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	A	T	G	C	Cg	cG	tCw	wGa	tCa	tGa	tCt	aGa	tC	Ga	tCh	dGa	cC	Gg	wrC	Gyw	Cc	gG	wA	Tw	tC_mutation	tC_mutation_to_G	tC_mutation_to_T	APOBEC_mutation	APOBEC_mutation_to_G	APOBEC_mutation_to_T	"CONTEXT(+/-20)"	a_counts	t_counts	g_counts	c_counts	cg_counts	tcw_counts	wga_counts	tca_counts	tga_counts	tct_counts	aga_counts	tc_counts	ga_counts	tch_counts	dga_counts	cc_counts	gg_counts	wrc_counts	gyw_counts	cc_counts	gg_counts	wa_counts	tw_counts	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	newbase	end	tum_allele1	tum_allele2	start	effect_idx	newbase_idx	pat_idx	is_coding	is_flank	is_indel	is_ins	is_del	is_missense	is_nonsense	is_splice	is_silent	gene_idx	context_and_effect	context65	categ_idx	trackpos	categ	gene	chr	pos	type	classification	ref_allele	patient	DistBetween_Mutations	Distance_to_LT_end	Distance_to_RT_end	Strain_Mutation_ID	Dataset_Mutation_ID	Complex_ID	Complex_Size	StrainCluster_ID	Dataset_Cluster_ID	Distance_Between_Clusters	Cluster_Size_Mutations	Cluster_Size_Complexes	Cluster_Length	Cluster_Coordination	Content_of_non_coordinated_cluster	Cluster_Pvalue
ATAD3B	83858	broad.mit.edu	37	chr1	1430871	1430871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctctcttcactaggccacgGcatatgcctccaaggacggg	8	9	10	14	2	3	0	1	0	2	0	5	1	4	1	3	4	1	1	3	4	3	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:1430871G>A	uc001afv.3	+	15	1722	c.1621G>A	c.(1621-1623)Gca>Aca	p.A541T	ATAD3B_uc021oeq.1_Intron|ATAD3B_uc001afx.3_Missense_Mutation_p.A495T	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	541							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTAGGCCACGGCATATGCCTC	0.632													A	1430871	G	A	1430871	3	1	1	1	0	0	0	0	1	0	0	0	1079	1203	42	2	1683	2	ATAD3B	1	1430871	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		1430871	247819750	1	1											
TPM3	7170	broad.mit.edu	37	chr1	154148652	154148652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagggcagtggccaggcGctcctgagcacggtccagct	6	7	15	13	2	0	1	0	1	0	0	2	1	2	1	3	4	3	5	3	4	0	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:154148652G>A	uc001fec.1	-	2	431	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	TPM3_uc010pei.1_Intron|TPM3_uc001fdy.1_Missense_Mutation_p.R69C|TPM3_uc001fdz.1_Missense_Mutation_p.R69C|TPM3_uc001fea.1_Missense_Mutation_p.R69C|TPM3_uc001feb.1_Missense_Mutation_p.R69C|TPM3_uc010pej.1_Intron|TPM3_uc001fed.1_Missense_Mutation_p.R69C	NM_152263	NP_689476	P06753	TPM3_HUMAN	Homo sapiens tropomyosin 3 (TPM3), transcript variant 1, mRNA.	105					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					GTGGCCAGGCGCTCCTGAGCA	0.527			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								A	154148652	G	A	154148652	3	1	1	1	0	0	0	0	1	0	0	0	16508	1087	38	1	824	1	TPM3	1	154148652	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	152717781	154148652	95101969	2	2											
NR1I3	9970	broad.mit.edu	37	chr1	161206281	161206281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagccctcacaagtcagCgcattaaagtggtagcctgt	10	10	10	11	1	2	0	2	0	0	0	2	0	2	0	2	1	4	3	2	1	4	3	rs140012276	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:161206281C>T	uc001fzx.3	-	1	278	c.75G>A	c.(73-75)gcG>gcA	p.A25A	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Silent_p.A25A|NR1I3_uc001fzm.3_Intron|NR1I3_uc001fzn.3_5'UTR|NR1I3_uc001fzf.3_Silent_p.A25A|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Silent_p.A25A|NR1I3_uc001fzq.3_Silent_p.A25A|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Silent_p.A25A|NR1I3_uc001fzw.3_Silent_p.A25A|NR1I3_uc001fzz.3_Silent_p.A25A|NR1I3_uc001fzh.3_Intron|NR1I3_uc001gab.3_Silent_p.A25A|NR1I3_uc001gac.3_Intron|NR1I3_uc001fzp.3_Silent_p.A25A|NR1I3_uc001fzg.3_Intron|NR1I3_uc001gaa.3_Silent_p.A25A|NR1I3_uc001fzj.3_Intron|NR1I3_uc001fzi.3_Intron|NR1I3_uc001fzl.3_Intron|NR1I3_uc001fzk.3_Intron|NR1I3_uc010pkm.2_Intron|NR1I3_uc010pkn.1_Silent_p.A25A	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	25					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.A25V(1)		endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CACAAGTCAGCGCATTAAAGT	0.532													T	161206281	C	T	161206281	2	4	1	1	0	0	0	0	0	0	0	1	10697	755	27	1		1	NR1I3	1	161206281	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	7057629	161206281	88044340	3	3											
AGT	183	broad.mit.edu	37	chr1	230846235	230846235	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgccccatagctcactgTgcatgccatatatacggaag	11	8	8	14	2	1	0	1	0	0	0	1	1	1	1	4	1	4	2	4	1	5	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr1:230846235T>A	uc001hty.4	-	1	870	c.362A>T	c.(361-363)cAc>cTc	p.H121L	AGT_uc009xff.3_Missense_Mutation_p.H93L	NM_000029	NP_000020	P01019	ANGT_HUMAN	Homo sapiens angiotensinogen (serpin peptidase inhibitor, clade A, member 8) (AGT), mRNA.	121					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TAGCTCACTGTGCATGCCATA	0.582													A	230846235	T	A	230846235	3	1	1	1	0	0	0	0	1	0	0	0	399	1696	59	5	1111	5	AGT	1	230846235	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	69639954	230846235	18404386	4	4											
C2orf63	130162	broad.mit.edu	37	chr2	55439915	55439915	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttgagattgaatcttCgaggaattactttcgataat	12	17	7	5	2	2	2	0	2	2	1	4	6	2	3	0	1	1	0	0	1	5	7			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:55439915C>A	uc002ryi.2	-	4	739	c.393G>T	c.(391-393)tcG>tcT	p.S131S	C2orf63_uc002ryh.2_Intron|C2orf63_uc002ryj.2_Silent_p.S9S	NM_152385	NP_001129070	Q8NHS4	CB063_HUMAN	Homo sapiens chromosome 2 open reading frame 63 (C2orf63), transcript variant 1, mRNA.	131							binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			LUSC - Lung squamous cell carcinoma(58;0.179)|Lung(47;0.189)			ATTGAATCTTCGAGGAATTAC	0.338													A	55439915	C	A	55439915	2	1	1	1	0	0	0	0	0	0	0	1	2203	871	31	4		4	C2orf63	2	55439915	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		55439915	187759458	5	5											
ALMS1	7840	broad.mit.edu	37	chr2	73680365	73680365	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtaataaataaaccagaAtctgcaggttttagagatgt	15	13	9	4	0	1	2	0	0	1	2	1	3	1	2	1	1	2	4	1	1	7	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:73680365A>G	uc002sje.1	+	7	6819	c.6708A>G	c.(6706-6708)gaA>gaG	p.E2236E	ALMS1_uc002sjf.1_Silent_p.E2194E|ALMS1_uc002sjg.3_Silent_p.E1624E|ALMS1_uc002sjh.1_Silent_p.E1624E	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2236					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ATAAACCAGAATCTGCAGGTT	0.363													G	73680365	A	G	73680365	2	3	1	1	0	0	0	0	0	0	0	1	535	98	4	3		3	ALMS1	2	73680365	Silent	SNP	A	TCGA-02-0003-01A-01D-1490-08	18240450	73680365	169519008	6	6											
PLCL1	5334	broad.mit.edu	37	chr2	198950756	198950756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgacatcatggagcacGtaaccctttttgtccacata	10	12	9	10	1	1	1	1	1	0	0	2	2	2	2	2	2	2	2	2	2	2	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:198950756G>A	uc010fsp.3	+	1	2913	c.2515G>A	c.(2515-2517)Gta>Ata	p.V839I	PLCL1_uc002uuv.4_Missense_Mutation_p.V760I	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	839					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.V839I(1)|p.V741I(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CATGGAGCACGTAACCCTTTT	0.453													A	198950756	G	A	198950756	3	1	1	1	0	0	0	0	1	0	0	0	12116	1145	40	1	2521	1	PLCL1	2	198950756	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	125270391	198950756	44248617	7	7											
SLC11A1	6556	broad.mit.edu	37	chr2	219255987	219255987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatgaacaacgccaccGtggccgtggacatttaccag	10	7	9	15	3	0	1	0	1	0	0	1	2	1	2	6	2	3	0	6	2	3	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:219255987G>A	uc002vhv.3	+	9	1361	c.1021G>A	c.(1021-1023)Gtg>Atg	p.V341M	SLC11A1_uc010fvp.1_Missense_Mutation_p.V341M|SLC11A1_uc010fvq.1_Missense_Mutation_p.V274M|SLC11A1_uc010zkc.1_Missense_Mutation_p.V274M|SLC11A1_uc002vhu.1_Missense_Mutation_p.V136M|SLC11A1_uc002vhw.3_Missense_Mutation_p.V223M|SLC11A1_uc010fvr.3_Missense_Mutation_p.V136M	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	341					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAACGCCACCGTGGCCGTGGA	0.627													A	219255987	G	A	219255987	3	1	1	1	0	0	0	0	1	0	0	0	14474	1145	40	1	1059	1	SLC11A1	2	219255987	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	20305231	219255987	23943386	8	8											
OBSL1	23363	broad.mit.edu	37	chr2	220422920	220422920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccaccagccaggatgacaTtgaaggtgatggcctcatgc	11	7	11	12	0	1	3	1	3	0	0	1	4	1	4	4	3	2	0	4	3	1	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr2:220422920T>C	uc010fwk.3	-	9	3802	c.3488A>G	c.(3487-3489)aAt>aGt	p.N1163S	OBSL1_uc002vmh.1_Missense_Mutation_p.N154S|OBSL1_uc010zli.1_Intron|OBSL1_uc010fwl.2_Missense_Mutation_p.N1163S	NM_015311	NP_056126	O75147	OBSL1_HUMAN	Homo sapiens obscurin-like 1 (OBSL1), transcript variant 1, mRNA.	1163	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		CAGGATGACATTGAAGGTGAT	0.657													C	220422920	T	C	220422920	3	2	1	1	0	0	0	0	1	0	0	0	10889	1493	52	3	2273	3	OBSL1	2	220422920	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	1166933	220422920	22776453	9	9											
CLEC3B	7123	broad.mit.edu	37	chr3	45077083	45077083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagacgaagaccttccaCgaggccagcgaggactgcat	12	4	11	14	3	0	2	0	0	0	2	1	6	1	3	4	2	2	1	4	2	1	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:45077083C>T	uc003cok.4	+	2	372	c.276C>T	c.(274-276)caC>caT	p.H92H		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	92	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACCTTCCACGAGGCCAGCG	0.627													T	45077083	C	T	45077083	2	4	1	1	0	0	0	0	0	0	0	1	3542	535	19	1		1	CLEC3B	3	45077083	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		45077083	152945347	10	10											
NPRL2	10641	broad.mit.edu	37	chr3	50387203	50387203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagaggagagcattgcGgctgtacttcttgtgttcga	8	13	14	6	2	1	3	0	1	1	2	2	5	1	3	0	2	3	5	0	2	2	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:50387203G>A	uc003daj.1	-	2	635	c.232C>T	c.(232-234)Cgc>Tgc	p.R78C	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	78	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGAGCATTGCGGCTGTACTTC	0.547													A	50387203	G	A	50387203	3	1	1	1	0	0	0	0	1	0	0	0	10673	1116	39	1	946	1	NPRL2	3	50387203	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	5310120	50387203	147635227	11	11											
DZIP1L	199221	broad.mit.edu	37	chr3	137796433	137796433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggggttacgcctcagagCtgccagcaccttgtgctgtt	6	11	13	11	1	1	1	1	0	0	1	1	1	1	1	3	2	5	5	3	2	1	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr3:137796433C>T	uc003erq.3	-	10	1693	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	DZIP1L_uc003err.1_Missense_Mutation_p.A444T	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	444						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CGCCTCAGAGCTGCCAGCACC	0.537													T	137796433	C	T	137796433	3	4	1	1	0	0	0	0	1	0	0	0	4903	797	28	2	1006	2	DZIP1L	3	137796433	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	87409230	137796433	60225997	12	12											
ANAPC4	29945	broad.mit.edu	37	chr4	25396471	25396471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgaaaaagcttggccaGtctatagagtcatcatactc	12	11	9	9	0	3	2	2	1	1	1	4	2	3	2	1	2	2	2	1	2	5	5			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:25396471G>T	uc003gro.3	+	13	1134	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	ANAPC4_uc003grp.3_Missense_Mutation_p.Q220H|ANAPC4_uc010ieu.1_Intron|ANAPC4_uc010iet.1_Missense_Mutation_p.Q115H	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	335					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				AGCTTGGCCAGTCTATAGAGT	0.313													T	25396471	G	T	25396471	3	4	1	1	0	0	0	0	1	0	0	0	604	1020	36	4	1055	4	ANAPC4	4	25396471	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		25396471	165757805	13	13											
UGT2B28	54490	broad.mit.edu	37	chr4	70156391	70156391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccatgggatccctatggTaggcattccattgttttggg	7	14	11	9	0	0	0	0	0	0	0	2	1	2	1	3	4	1	3	3	4	3	7			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr4:70156391T>C	uc003hej.3	+	4	1174	c.1172T>C	c.(1171-1173)gTa>gCa	p.V391A	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	391					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATCCCTATGGTAGGCATTCCA	0.448													C	70156391	T	C	70156391	3	2	1	1	0	0	0	0	1	0	0	0	17062	1638	57	3	1190	3	UGT2B28	4	70156391	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	44759920	70156391	120997885	14	14											
DNAH5	1767	broad.mit.edu	37	chr5	13727709	13727709	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcatttggaagaggttcCtcctccgggttttccttatc	6	15	10	10	1	0	1	0	0	0	1	5	2	4	2	4	4	0	3	4	4	3	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:13727709C>T	uc003jfd.2	-	69	11982	c.11940G>A	c.(11938-11940)gaG>gaA	p.E3980E	DNAH5_uc003jfc.2_Silent_p.E148E	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3980					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.E3980K(1)|p.E3979*(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GAAGAGGTTCCTCCTCCGGGT	0.413									Kartagener syndrome				T	13727709	C	T	13727709	2	4	1	1	0	0	0	0	0	0	0	1	4643	680	24	2		2	DNAH5	5	13727709	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		13727709	167187551	15	15											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	1	1	0	0	0	0	1	0	0	0	11995	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	53861429	67589138	113326122	16	16											
MTX3	345778	broad.mit.edu	37	chr5	79284349	79284349	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaggagaatcctattcAgtgctcccttagacattctt	9	14	8	10	0	3	2	2	0	1	2	5	3	5	2	2	2	1	1	2	2	3	5			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:79284349A>T	uc010jag.3	-	4	467	c.440T>A	c.(439-441)cTg>cAg	p.L147Q	MTX3_uc010jah.3_Missense_Mutation_p.L147Q|MTX3_uc003kge.4_Missense_Mutation_p.L86Q|MTX3_uc003kgf.1_5'Flank	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	147					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AATCCTATTCAGTGCTCCCTT	0.463													T	79284349	A	T	79284349	3	4	1	1	0	0	0	0	1	0	0	0	10045	188	7	5	518	5	MTX3	5	79284349	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	11695211	79284349	101630911	17	17											
HRH2	3274	broad.mit.edu	37	chr5	175110351	175110351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgctggcaatgtggtcGtctgtctggccgtgggcttg	2	13	16	10	3	2	0	0	0	2	0	3	0	2	0	2	4	1	4	2	4	1	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr5:175110351G>A	uc003mdc.4	+	1	759	c.115G>A	c.(115-117)Gtc>Atc	p.V39I	HRH2_uc003mdd.2_Missense_Mutation_p.V39I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	39					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CAATGTGGTCGTCTGTCTGGC	0.582													A	175110351	G	A	175110351	3	1	1	1	0	0	0	0	1	0	0	0	7411	1145	40	1	117	1	HRH2	5	175110351	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	95826002	175110351	5804909	18	18											
KIAA0319	9856	broad.mit.edu	37	chr6	24556864	24556864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctccatcccagatataaCgctgtataaggttctccatc	10	13	5	13	1	2	1	0	0	2	1	7	1	4	1	3	1	1	3	3	1	4	5	rs137950263		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:24556864C>T	uc011djo.2	-	17	3328	c.2828G>A	c.(2827-2829)cGt>cAt	p.R943H	KIAA0319_uc011djp.2_Missense_Mutation_p.R898H|KIAA0319_uc003neh.1_Missense_Mutation_p.R943H|KIAA0319_uc011djq.1_Missense_Mutation_p.R934H|KIAA0319_uc011djr.1_Missense_Mutation_p.R943H|KIAA0319_uc010jpt.1_Missense_Mutation_p.R354H	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	943					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.R943C(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCAGATATAACGCTGTATAAG	0.488													T	24556864	C	T	24556864	3	4	1	1	0	0	0	0	1	0	0	0	8226	536	19	1	406	1	KIAA0319	6	24556864	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		24556864	146558203	19	19											
SLC39A7	7922	broad.mit.edu	37	chr6	33170112	33170112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcttgtcgtggagaaatTtgtgagacatgtgaaaggag	11	13	13	4	1	1	3	0	2	1	2	2	6	1	4	0	2	0	0	0	2	2	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:33170112T>C	uc003odf.3	+	4	824	c.707T>C	c.(706-708)tTt>tCt	p.F236S	RXRB_uc003odb.3_5'Flank|RXRB_uc003odc.3_5'Flank|RXRB_uc011dqr.2_5'Flank|RXRB_uc011dqs.1_5'Flank|RXRB_uc011dqt.1_5'Flank|RXRB_uc011dqu.1_5'Flank|SLC39A7_uc003odg.3_Missense_Mutation_p.F236S|SLC39A7_uc011dqv.2_Missense_Mutation_p.F111S|HSD17B8_uc003odi.1_5'Flank	NM_001077516	NP_008910	Q92504	S39A7_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 7 (SLC39A7), transcript variant 2, mRNA.	236						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTGGAGAAATTTGTGAGACAT	0.507													C	33170112	T	C	33170112	3	2	1	1	0	0	0	0	1	0	0	0	14717	1841	64	3	721	3	SLC39A7	6	33170112	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	8613248	33170112	137944955	20	20											
EPHA7	2045	broad.mit.edu	37	chr6	94120845	94120845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggcacacctggtatgttCgtatcggggtatagttctca	7	14	11	9	2	1	0	1	0	1	0	4	0	1	0	1	4	0	6	1	4	4	7			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:94120845C>T	uc003poe.3	-	2	447	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	EPHA7_uc003pof.3_Missense_Mutation_p.R69Q|EPHA7_uc011eac.2_Missense_Mutation_p.R69Q|EPHA7_uc003pog.4_Missense_Mutation_p.R69Q	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	69						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R69Q(2)|p.R69*(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTGGTATGTTCGTATCGGGGT	0.393													T	94120845	C	T	94120845	3	4	1	1	0	0	0	0	1	0	0	0	5213	884	31	1	2850	1	EPHA7	6	94120845	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	60950733	94120845	76994222	21	21											
SHPRH	257218	broad.mit.edu	37	chr6	146269445	146269445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagtagagtttcagaccctCagatgtaacaatctctcgcc	12	11	7	11	1	3	3	2	0	1	3	5	3	3	3	2	0	1	3	2	0	4	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr6:146269445C>T	uc003qlf.3	-	4	1423	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SHPRH_uc003qle.3_Missense_Mutation_p.E342K|SHPRH_uc003qlg.1_5'UTR|SHPRH_uc003qlj.1_Missense_Mutation_p.E231K	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	342	Helicase ATP-binding; first part.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTCAGACCCTCAGATGTAACA	0.308													T	146269445	C	T	146269445	3	4	1	1	0	0	0	0	1	0	0	0	14385	835	29	2	4175	2	SHPRH	6	146269445	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	52148600	146269445	24845622	22	22											
ELMO1	9844	broad.mit.edu	37	chr7	37251095	37251095	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	agcatcaaaagcaattcttcGaagttcaaatatgatgtccc	15	11	6	9	1	3	1	2	1	1	0	5	2	4	1	1	0	2	3	1	0	6	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:37251095G>C	uc022abv.1	-	12	1692	c.982C>G	c.(982-984)Cga>Gga	p.R328G	ELMO1_uc011kbc.2_Missense_Mutation_p.R232G|ELMO1_uc003tfk.2_Missense_Mutation_p.R328G|ELMO1_uc010kxg.2_Missense_Mutation_p.R328G	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	328	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GCAATTCTTCGAAGTTCAAAT	0.428													C	37251095	G	C	37251095	3	2	1	1	0	0	0	0	1	0	0	0	5106	1066	37	4	1241	4	ELMO1	7	37251095	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		37251095	121887568	23	23											
EGFR	1956	broad.mit.edu	37	chr7	55233109	55233109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccatgtgtgccacctgtGccatccaaactgcacctacg	8	8	9	16	2	0	0	0	0	0	0	1	0	1	0	6	1	5	1	6	1	2	1	rs150899403		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:55233109G>A	uc003tqk.3	+	14	2105	c.1859G>A	c.(1858-1860)tGc>tAc	p.C620Y	EGFR_uc003tqi.3_Missense_Mutation_p.C620Y|EGFR_uc003tqj.3_Missense_Mutation_p.C620Y|EGFR_uc022adm.1_Missense_Mutation_p.C620Y|EGFR_uc010kzg.2_Missense_Mutation_p.C575Y|EGFR_uc022adn.1_Missense_Mutation_p.C575Y|EGFR_uc011kco.2_Missense_Mutation_p.C567Y|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	620					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620Y(2)|p.C620W(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCACCTGTGCCATCCAAAC	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55233109	G	A	55233109	3	1	1	1	0	0	0	0	1	0	0	0	5006	1319	46	2	1928	2	EGFR	7	55233109	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	17982014	55233109	103905554	24	24											
ZNF680	340252	broad.mit.edu	37	chr7	64004766	64004766	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaggcattgccactcCtccagagagaattctatggc	9	10	10	12	0	1	2	0	0	1	2	4	3	4	2	4	2	1	1	4	2	2	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:64004766C>T	uc003tta.2	-	1	248	c.75G>A	c.(73-75)gaG>gaA	p.E25E	ZNF680_uc003ttb.2_Silent_p.E25E	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	25	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E25D(2)		breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				ATTGCCACTCCTCCAGAGAGA	0.423													T	64004766	C	T	64004766	2	4	1	1	0	0	0	0	0	0	0	1	18188	680	24	2		2	ZNF680	7	64004766	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	8771657	64004766	95133897	25	25											
AUTS2	26053	broad.mit.edu	37	chr7	70255710	70255710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacacgcggctccactccGtgcaccccgcctccctcgac	6	5	8	22	5	0	0	0	0	0	0	4	1	3	0	6	1	2	3	6	1	0	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:70255710G>A	uc003tvw.4	+	18	4243	c.3508G>A	c.(3508-3510)Gtg>Atg	p.V1170M	AUTS2_uc003tvx.4_Missense_Mutation_p.V1146M|AUTS2_uc011keg.2_Missense_Mutation_p.V622M	NM_015570	NP_056385	Q8WXX7	AUTS2_HUMAN	Homo sapiens autism susceptibility candidate 2 (AUTS2), transcript variant 1, mRNA.	1170	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCTCCACTCCGTGCACCCCGC	0.697													A	70255710	G	A	70255710	3	1	1	1	0	0	0	0	1	0	0	0	1230	1145	40	1	3727	1	AUTS2	7	70255710	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	6250944	70255710	88882953	26	26											
MUC17	140453	broad.mit.edu	37	chr7	100677039	100677039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacacatatcaccacttCtactgaagccagttgctctc	12	10	5	14	0	3	1	1	1	2	0	4	1	3	1	2	0	4	3	2	0	4	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:100677039C>T	uc003uxp.1	+	2	2395	c.2342C>T	c.(2341-2343)tCt>tTt	p.S781F	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	781	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)					ATCACCACTTCTACTGAAGCC	0.458													T	100677039	C	T	100677039	3	4	1	1	0	0	0	0	1	0	0	0	10050	913	32	2	2352	2	MUC17	7	100677039	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	30421329	100677039	58461624	27	27											
SLC26A3	1811	broad.mit.edu	37	chr7	107431527	107431527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcactgtgactgatgccGccgccgccaccctcaccctc	8	6	8	19	3	1	2	1	2	0	0	2	2	1	2	6	0	2	1	6	0	1	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr7:107431527G>A	uc003ver.2	-	4	747	c.536C>T	c.(535-537)gCg>gTg	p.A179V	SLC26A3_uc003ves.2_Missense_Mutation_p.A144V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	179					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GACTGATGCCGCCGCCGCCAC	0.483													A	107431527	G	A	107431527	3	1	1	1	0	0	0	0	1	0	0	0	14612	1087	38	1	1826	1	SLC26A3	7	107431527	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	6754488	107431527	51707136	28	28											
POTEA	340441	broad.mit.edu	37	chr8	43147808	43147808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggagccaaggtatcacGtccgtcgagaagatctgggc	10	7	13	11	4	3	2	2	0	1	2	5	4	4	3	2	3	1	1	2	3	3	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:43147808G>A	uc003xpz.1	+	0	224	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	POTEA_uc003xqa.1_Missense_Mutation_p.V61I	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	61										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAGGTATCACGTCCGTCGAGA	0.602													A	43147808	G	A	43147808	3	1	1	1	0	0	0	0	1	0	0	0	12338	1145	40	1	183	1	POTEA	8	43147808	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		43147808	103216214	29	29											
UBR5	51366	broad.mit.edu	37	chr8	103282370	103282370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccttcagaggctggtCtaaagggcctagtgtcgatg	8	11	13	9	1	2	1	1	0	1	1	4	3	3	1	2	3	0	1	2	3	3	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr8:103282370C>A	uc003ykr.2	-	49	7582	c.7127G>T	c.(7126-7128)aGa>aTa	p.R2376I	UBR5_uc003yks.2_Missense_Mutation_p.R2376I|UBR5_uc003ykq.3_5'Flank	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2376					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)			AGAGGCTGGTCTAAAGGGCCT	0.438													A	103282370	C	A	103282370	3	1	1	1	0	0	0	0	1	0	0	0	17007	913	32	4	1312	4	UBR5	8	103282370	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	60134562	103282370	43081652	30	30											
KIAA0020	9933	broad.mit.edu	37	chr9	2811564	2811564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggagctcccgtctgcGgacctctgtatctttcttac	5	15	8	13	2	5	0	0	0	5	0	6	2	6	2	2	2	3	2	2	2	3	5			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:2811564G>A	uc003zhp.1	-	14	1528	c.1432C>T	c.(1432-1434)Cgc>Tgc	p.R478C	KIAA0020_uc003zhq.1_Missense_Mutation_p.R477C	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	478	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCCCGTCTGCGGACCTCTGTA	0.433													A	2811564	G	A	2811564	3	1	1	1	0	0	0	0	1	0	0	0	8210	1116	39	1	530	1	KIAA0020	9	2811564	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		2811564	138401867	31	31											
KIF27	55582	broad.mit.edu	37	chr9	86482718	86482718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcctctaattcttggcGttggttcagaactttctcta	7	16	7	11	1	4	1	1	0	3	1	6	1	5	1	1	2	2	3	1	2	3	7	rs3199677	by1000genomes	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr9:86482718G>A	uc004ana.3	-	12	2959	c.2815C>T	c.(2815-2817)Cgc>Tgc	p.R939C	KIF27_uc010mpw.3_Missense_Mutation_p.R873C|KIF27_uc010mpx.3_Intron	NM_017576	NP_060046	Q86VH2	KIF27_HUMAN	Homo sapiens kinesin family member 27 (KIF27), mRNA.	939					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R939C(2)		breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						AATTCTTGGCGTTGGTTCAGA	0.373													A	86482718	G	A	86482718	3	1	1	1	0	0	0	0	1	0	0	0	8354	1145	40	1	1414	1	KIF27	9	86482718	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	83671154	86482718	54730713	32	32											
TACC2	10579	broad.mit.edu	37	chr10	123810032	123810032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggaagcagcaggacaCgcccggaagccctgaccaca	16	1	11	13	2	0	1	0	1	0	0	0	4	0	4	3	3	3	2	3	3	4	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:123810032C>T	uc001lfv.3	+	2	473	c.113C>T	c.(112-114)aCg>aTg	p.T38M	TACC2_uc001lfw.3_Missense_Mutation_p.T38M|TACC2_uc009xzx.3_Missense_Mutation_p.T38M|TACC2_uc010qtv.2_Missense_Mutation_p.T38M	NM_206862	NP_996744	O95359	TACC2_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 2 (TACC2), transcript variant 1, mRNA.	38						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.T38M(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CAGCAGGACACGCCCGGAAGC	0.577													T	123810032	C	T	123810032	3	4	1	1	0	0	0	0	1	0	0	0	15599	536	19	1	119	1	TACC2	10	123810032	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		123810032	11724715	33	33											
JAKMIP3	282973	broad.mit.edu	37	chr10	133967449	133967449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaagggctacctggaCgaggagctggactaccggaa	13	4	15	9	2	0	1	0	0	0	1	0	6	0	5	2	5	4	3	2	5	5	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr10:133967449C>T	uc001lkx.4	+	17	2169	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	JAKMIP3_uc009yba.1_Silent_p.D160D	NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTACCTGGACGAGGAGCTGG	0.632													T	133967449	C	T	133967449	2	4	1	1	0	0	0	0	0	0	0	1	8000	535	19	1		1	JAKMIP3	10	133967449	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	10157417	133967449	1567298	34	34											
NAALAD2	10003	broad.mit.edu	37	chr11	89868837	89868837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaacatcaaatcatttcttCggtaagtttattttacgtat	14	17	4	6	2	3	0	2	0	1	0	4	0	3	0	0	1	2	3	0	1	7	8			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:89868837C>T	uc001pdf.4	+	2	303	c.194_splice	c.e2+1	p.R65_splice	NAALAD2_uc009yvx.3_Splice_Site_p.R65_splice|NAALAD2_uc009yvy.3_Splice_Site_p.R65_splice|NAALAD2_uc001pdd.2_Splice_Site_p.R65_splice|NAALAD2_uc001pde.3_Splice_Site_p.R65_splice	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	65					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ATCATTTCTTCGGTAAGTTTA	0.348													T	89868837	C	T	89868837	3	4	1	1	0	0	0	0	1	0	0	0	10204	898	31	1	199	1	NAALAD2	11	89868837	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		89868837	45137679	35	35											
FAT3	120114	broad.mit.edu	37	chr11	92570936	92570936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgaatgacaacagcccGgtgtttacacctgccaacta	12	9	9	11	1	0	2	0	2	0	0	0	3	0	2	3	1	5	1	3	1	5	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:92570936G>A	uc001pdj.4	+	15	10349	c.10332G>A	c.(10330-10332)ccG>ccA	p.P3444P	FAT3_uc001pdi.4_5'Flank	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3444	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACAACAGCCCGGTGTTTACAC	0.468										TCGA Ovarian(4;0.039)			A	92570936	G	A	92570936	2	1	1	1	0	0	0	0	0	0	0	1	5740	1103	39	1		1	FAT3	11	92570936	Silent	SNP	G	TCGA-02-0003-01A-01D-1490-08	2702099	92570936	42435580	36	36											
PANX3	116337	broad.mit.edu	37	chr11	124489539	124489539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctcacacggctatgtcGgtgggacaaacgacttttat	11	10	9	11	3	1	0	1	0	0	0	2	2	1	1	1	3	2	1	1	3	4	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr11:124489539G>A	uc001qah.3	+	3	887	c.887G>A	c.(886-888)cGg>cAg	p.R296Q		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	296					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity	p.R296Q(2)		NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		CGGCTATGTCGGTGGGACAAA	0.438													A	124489539	G	A	124489539	3	1	1	1	0	0	0	0	1	0	0	0	11498	1116	39	1	901	1	PANX3	11	124489539	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	31918603	124489539	10516977	37	37											
SLC2A14	144195	broad.mit.edu	37	chr12	7980269	7980269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggtgccccacaacCgctggaggactggtgaaaag	10	6	13	12	1	0	1	0	1	0	0	1	3	1	3	4	4	2	1	4	4	3	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:7980269C>T	uc010sgh.2	-	5	821	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	SLC2A14_uc001qtk.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qtl.3_Missense_Mutation_p.R229Q|SLC2A14_uc001qtm.3_Missense_Mutation_p.R229Q|SLC2A14_uc010sgg.2_Missense_Mutation_p.R143Q|SLC2A14_uc001qtn.3_Missense_Mutation_p.R252Q|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	252					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R252Q(1)		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)		GCCCCACAACCGCTGGAGGAC	0.502													T	7980269	C	T	7980269	3	4	1	1	0	0	0	0	1	0	0	0	14637	652	23	1	827	1	SLC2A14	12	7980269	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		7980269	125871626	38	38											
SLC2A3	6515	broad.mit.edu	37	chr12	8082458	8082458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggtgccccacaacCgctggaggactggtgaaaag	10	6	13	12	1	0	1	0	1	0	0	1	3	1	3	4	4	2	1	4	4	3	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:8082458C>T	uc001qtr.3	-	5	945	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	228					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity	p.R228Q(2)		central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GCCCCACAACCGCTGGAGGAC	0.493													T	8082458	C	T	8082458	3	4	1	1	0	0	0	0	1	0	0	0	14639	652	23	1	827	1	SLC2A3	12	8082458	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	102189	8082458	125769437	39	39											
MTERFD3	80298	broad.mit.edu	37	chr12	107371855	107371855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaataaatgggttttggcttAacaattttagtagccaaact	15	14	7	5	0	0	0	0	0	0	0	0	0	0	0	1	2	3	3	1	2	8	7			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:107371855A>G	uc001tme.1	-	1	2457	c.638T>C	c.(637-639)tTa>tCa	p.L213S	MTERFD3_uc001tmf.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmg.1_Missense_Mutation_p.L213S|MTERFD3_uc021rdh.1_Missense_Mutation_p.L213S|MTERFD3_uc001tmh.1_Missense_Mutation_p.L213S	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTTTTGGCTTAACAATTTTAG	0.383													G	107371855	A	G	107371855	3	3	1	1	0	0	0	0	1	0	0	0	9997	372	13	3	523	3	MTERFD3	12	107371855	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	99289397	107371855	26480040	40	40											
BTBD11	121551	broad.mit.edu	37	chr12	108012011	108012011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggaggagattctggccGaggggactgacctggcggag	7	6	18	10	2	1	2	0	1	1	1	1	7	1	5	3	7	0	0	3	7	0	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr12:108012011G>A	uc001tmk.1	+	9	2829	c.2308G>A	c.(2308-2310)Gag>Aag	p.E770K	BTBD11_uc009zut.1_Intron|BTBD11_uc001tmj.3_Missense_Mutation_p.E770K|BTBD11_uc001tml.1_Missense_Mutation_p.E307K	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	770						integral to membrane	DNA binding	p.A769T(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GATTCTGGCCGAGGGGACTGA	0.607													A	108012011	G	A	108012011	3	1	1	1	0	0	0	0	1	0	0	0	1548	1059	37	1	2451	1	BTBD11	12	108012011	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	640156	108012011	25839884	41	41											
MYH6	4624	broad.mit.edu	37	chr14	23858709	23858709	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttcctctagctgccGggccaactctcctggaggtg	4	12	10	15	1	2	0	0	0	2	0	5	1	4	1	5	3	3	1	5	3	2	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:23858709G>T	uc001wjv.3	-	27	3942	c.3871C>A	c.(3871-3873)Cgg>Agg	p.R1291R	MIR208A_uc010tnn.2_5'Flank	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1291					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCTAGCTGCCGGGCCAACTCT	0.582													T	23858709	G	T	23858709	2	4	1	1	0	0	0	0	0	0	0	1	10114	1115	39	4		4	MYH6	14	23858709	Silent	SNP	G	TCGA-02-0003-01A-01D-1490-08		23858709	83490831	42	42											
AKAP6	9472	broad.mit.edu	37	chr14	33290999	33290999	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaagagtctcagtaaagActcttcattttcatctacca	14	13	4	10	0	5	2	3	0	3	2	6	2	5	2	1	0	2	1	1	0	5	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:33290999A>G	uc001wrq.3	+	12	4150	c.3980A>G	c.(3979-3981)gAc>gGc	p.D1327G		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1327					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CTCAGTAAAGACTCTTCATTT	0.418													G	33290999	A	G	33290999	3	3	1	1	0	0	0	0	1	0	0	0	455	275	10	3	4026	3	AKAP6	14	33290999	Missense_Mutation	SNP	A	TCGA-02-0003-01A-01D-1490-08	9432290	33290999	74058541	43	43											
EML1	2009	broad.mit.edu	37	chr14	100363606	100363606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaactgcagaggcattacGctggccacaacgatgacgtg	12	6	12	11	3	0	2	0	1	0	1	0	3	0	2	1	2	5	4	1	2	3	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr14:100363606G>A	uc001ygr.3	+	7	928	c.859G>A	c.(859-861)Gct>Act	p.A287T	EML1_uc010avt.1_Missense_Mutation_p.A255T|EML1_uc010tww.2_Missense_Mutation_p.A256T|EML1_uc001ygq.3_Missense_Mutation_p.A287T|EML1_uc001ygs.3_Missense_Mutation_p.A268T	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	268						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				GAGGCATTACGCTGGCCACAA	0.542													A	100363606	G	A	100363606	3	1	1	1	0	0	0	0	1	0	0	0	5137	1087	38	1	889	1	EML1	14	100363606	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	67072607	100363606	6985934	44	44											
WDR72	256764	broad.mit.edu	37	chr15	53998200	53998200	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttcctgagacttctccAgagaaaagtaccttgtaaaa	14	12	6	9	0	2	2	0	1	2	2	4	4	3	2	3	0	1	2	3	0	5	6			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr15:53998200A>T	uc002acj.2	-	9	1068	c.1026T>A	c.(1024-1026)tcT>tcA	p.S342S	WDR72_uc010bfi.1_Silent_p.S342S	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	342								p.F341L(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGACTTCTCCAGAGAAAAGTA	0.403													T	53998200	A	T	53998200	2	4	1	1	0	0	0	0	0	0	0	1	17424	175	7	5		5	WDR72	15	53998200	Silent	SNP	A	TCGA-02-0003-01A-01D-1490-08		53998200	48533192	45	45											
GNPTG	84572	broad.mit.edu	37	chr16	1412529	1412529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggccgatgagctgatcacCccccaggtaagcgtgcgctc	7	7	12	15	3	1	2	1	2	0	0	2	3	1	2	4	2	3	3	4	2	1	1	rs146171435	byFrequency	TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1412529C>T	uc002clm.3	+	7	670	c.603C>T	c.(601-603)acC>acT	p.T201T		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	201						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGCTGATCACCCCCCAGGTAA	0.667													T	1412529	C	T	1412529	2	4	1	1	0	0	0	0	0	0	0	1	6602	610	22	2		2	GNPTG	16	1412529	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		1412529	88942224	46	46											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1815961	1815961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccgtccctctccccagCggccagcgacagcgactacc	6	4	11	20	5	1	0	0	0	1	0	3	2	2	0	6	2	4	0	6	2	1	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr16:1815961C>T	uc010uvl.2	+	21	2567	c.2447_splice	c.e21-1	p.A816_splice	MAPK8IP3_uc002cmk.3_Splice_Site_p.A815_splice|MAPK8IP3_uc002cml.3_Splice_Site_p.A805_splice|MAPK8IP3_uc021tah.1_Splice_Site_p.A809_splice	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	815					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CTCTCCCCAGCGGCCAGCGAC	0.687													T	1815961	C	T	1815961	3	4	1	1	0	0	0	0	1	0	0	0	9361	782	27	1	2542	1	MAPK8IP3	16	1815961	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	403432	1815961	88538792	47	47											
SPATA22	84690	broad.mit.edu	37	chr17	3366028	3366028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgttttcattacaggaGccaactctggattcacagct	10	12	7	12	0	3	0	2	0	1	0	3	2	3	2	2	2	4	2	2	2	2	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:3366028G>A	uc002fvm.3	-	3	444	c.206C>T	c.(205-207)gCt>gTt	p.A69V	SPATA22_uc010vrg.2_Missense_Mutation_p.A53V|SPATA22_uc010vrf.2_Missense_Mutation_p.A69V|SPATA22_uc002fvo.3_Missense_Mutation_p.A69V|SPATA22_uc002fvn.3_Missense_Mutation_p.A69V|SPATA22_uc002fvp.3_Missense_Mutation_p.A69V|SPATA22_uc010ckf.3_Missense_Mutation_p.A26V	NM_032598	NP_115987	Q8NHS9	SPT22_HUMAN	Homo sapiens spermatogenesis associated 22 (SPATA22), transcript variant 2, mRNA.	69										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CATTACAGGAGCCAACTCTGG	0.348													A	3366028	G	A	3366028	3	1	1	1	0	0	0	0	1	0	0	0	15104	971	34	2	909	2	SPATA22	17	3366028	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		3366028	77829182	48	48											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	1	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	4211066	7577094	73618116	49	49											
TP53	7157	broad.mit.edu	37	chr17	7578396	7578396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatctgagcagcgctcatgGtgggggcagcgcctcacaac	8	7	13	13	2	3	1	2	1	1	0	3	1	3	1	1	3	4	3	1	3	2	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:7578396G>T	uc002gim.2	-	4	728	c.534C>A	c.(532-534)caC>caA	p.H178Q	TP53_uc002gig.1_Missense_Mutation_p.H178Q|TP53_uc002gih.3_Missense_Mutation_p.H178Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H46Q|TP53_uc010cnf.1_Missense_Mutation_p.H46Q|TP53_uc002gii.1_Missense_Mutation_p.H46Q|TP53_uc010cni.1_Missense_Mutation_p.H178Q|TP53_uc010cnh.1_Missense_Mutation_p.H178Q|TP53_uc002gij.2_Missense_Mutation_p.H178Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H85Q|TP53_uc002gio.2_Missense_Mutation_p.H46Q|TP53_uc010vug.2_Missense_Mutation_p.H139Q	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	178	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> HPHP (in a Burkitt lymphoma).|H -> L (in a sporadic cancer; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|HH -> QS (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.P177L(17)|p.P177_C182delPHHERC(16)|p.P177R(16)|p.H178fs*69(15)|p.H178Q(10)|p.P177P(10)|p.H179Y(8)|p.H178Y(8)|p.0?(8)|p.P177S(8)|p.H178fs*3(7)|p.C176_R181delCPHHER(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178D(5)|p.P177fs*3(4)|p.H178_S183delHHERCS(4)|p.H178H(4)|p.R174fs*24(3)|p.P177H(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.R175_H178>X(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.H178del(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.H179del(1)|p.P177_C182del(1)|p.P177fs*4(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.P177I(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H178L(1)|p.R174fs*3(1)|p.P177T(1)|p.E171fs*61(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)		AGCGCTCATGGTGGGGGCAGC	0.642		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)			T	7578396	G	T	7578396	3	4	1	1	0	0	0	0	1	0	0	0	16482	1252	44	4	764	4	TP53	17	7578396	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	1302	7578396	73616814	50	50											
HOXB1	3211	broad.mit.edu	37	chr17	46607715	46607715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtgggtttctcttaacCttcatccagtcgaaggtccg	6	14	11	10	2	2	0	1	0	1	0	6	1	4	0	3	3	1	1	3	3	2	4			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr17:46607715C>A	uc002ink.1	-	0	558	c.552G>T	c.(550-552)aaG>aaT	p.K184N	HOXB1_uc021tzf.1_Missense_Mutation_p.K184N	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	184						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity	p.M183I(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTCTCTTAACCTTCATCCAGT	0.592													A	46607715	C	A	46607715	3	1	1	1	0	0	0	0	1	0	0	0	7354	680	24	4	361	4	HOXB1	17	46607715	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	39029319	46607715	34587495	51	51											
FUT5	2527	broad.mit.edu	37	chr19	5867712	5867712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggcgccacagccactgtgGcttggctgggcccaggggat	5	6	17	13	2	0	0	0	0	0	0	0	1	0	1	3	6	1	2	3	6	0	1			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:5867712G>T	uc002mdo.4	-	1	196	c.25C>A	c.(25-27)Cca>Aca	p.P9T	FUT5_uc010duo.3_Missense_Mutation_p.P9T|FUT5_uc021uno.1_Missense_Mutation_p.P9T	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	9					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGCCACTGTGGCTTGGCTGGG	0.607													T	5867712	G	T	5867712	3	4	1	1	0	0	0	0	1	0	0	0	6159	1203	42	4	1103	4	FUT5	19	5867712	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08		5867712	53261271	52	52											
ILF3	3609	broad.mit.edu	37	chr19	10789305	10789305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaaacgctatcagtcaaCgaccccccggacgttctgga	12	7	9	13	4	3	1	2	0	1	1	3	4	3	3	3	2	2	2	3	2	4	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:10789305C>T	uc002mpn.3	+	5	893	c.576C>T	c.(574-576)aaC>aaT	p.N192N	ILF3_uc010xli.1_Intron|ILF3_uc002mpm.2_Silent_p.N192N|ILF3_uc002mpl.2_Silent_p.N192N|ILF3_uc002mpk.2_Silent_p.N192N|ILF3_uc002mpo.3_Silent_p.N192N|ILF3_uc002mpp.3_Silent_p.N13N	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	192	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TATCAGTCAACGACCCCCCGG	0.502													T	10789305	C	T	10789305	2	4	1	1	0	0	0	0	0	0	0	1	7770	535	19	1		1	ILF3	19	10789305	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08	4921593	10789305	48339678	53	53											
PODNL1	79883	broad.mit.edu	37	chr19	14046616	14046616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccgcgacacggagggaccGgggcagaaactgaggggcca	11	2	17	11	4	0	2	0	1	0	1	1	5	1	4	3	6	1	1	3	6	1	0	rs142083249		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:14046616G>A	uc002mxr.3	-	4	707	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	PODNL1_uc010xni.2_Missense_Mutation_p.R63W|PODNL1_uc010xnj.2_Missense_Mutation_p.R143W|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	145	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			CGGAGGGACCGGGGCAGAAAC	0.657													A	14046616	G	A	14046616	3	1	1	1	0	0	0	0	1	0	0	0	12256	1115	39	1	1121	1	PODNL1	19	14046616	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	3257311	14046616	45082367	54	54											
NLRP5	126206	broad.mit.edu	37	chr19	56538455	56538455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcacggtggttctgcacGgaaagtcaggaattgggaaa	11	8	14	8	3	2	0	1	0	1	0	3	3	2	3	0	5	1	3	0	5	3	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56538455G>A	uc002qmj.3	+	6	856	c.856G>A	c.(856-858)Gga>Aga	p.G286R	NLRP5_uc002qmi.3_Missense_Mutation_p.G267R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	286	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGTTCTGCACGGAAAGTCAGG	0.547													A	56538455	G	A	56538455	3	1	1	1	0	0	0	0	1	0	0	0	10556	1117	39	1	882	1	NLRP5	19	56538455	Missense_Mutation	SNP	G	TCGA-02-0003-01A-01D-1490-08	42491839	56538455	2590528	55	55											
ZNF583	147949	broad.mit.edu	37	chr19	56934399	56934399	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagaagactgtcaaagTgaggactggtataagaacca	16	8	12	5	0	1	5	1	2	0	3	1	7	1	6	1	2	1	1	1	2	5	3			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr19:56934399T>G	uc010ygl.1	+	4	537	c.372T>G	c.(370-372)agT>agG	p.S124R	ZNF583_uc002qnc.2_Missense_Mutation_p.S124R|ZNF583_uc010ygm.1_Missense_Mutation_p.S124R	NM_001159860	NP_689691	Q96ND8	ZN583_HUMAN	Homo sapiens zinc finger protein 583 (ZNF583), transcript variant 2, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		ACTGTCAAAGTGAGGACTGGT	0.383													G	56934399	T	G	56934399	3	3	1	1	0	0	0	0	1	0	0	0	18116	1693	59	5	386	5	ZNF583	19	56934399	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08	395944	56934399	2194584	56	56											
TSHZ2	128553	broad.mit.edu	37	chr20	51872260	51872260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagccagcgtgtccaggCgctacctgtttgagaacagc	8	8	13	12	2	1	1	1	1	0	1	2	2	2	1	3	2	5	2	3	2	2	2			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr20:51872260C>T	uc002xwo.3	+	1	3150	c.2263C>T	c.(2263-2265)Cgc>Tgc	p.R755C	TSHZ2_uc021wex.1_Missense_Mutation_p.R752C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	755					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CGTGTCCAGGCGCTACCTGTT	0.512													T	51872260	C	T	51872260	3	4	1	1	0	0	0	0	1	0	0	0	16725	768	27	1	2269	1	TSHZ2	20	51872260	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08		51872260	11153260	57	57											
FAM83F	113828	broad.mit.edu	37	chr22	40417570	40417570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaacagcgggaggcgggCggcaacccggaggggcagga	9	0	21	11	5	0	0	0	0	0	0	0	3	0	3	1	9	3	3	1	9	2	0			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:40417570C>T	uc003ayk.1	+	3	1150	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G		NM_138435	NP_612444	Q8NEG4	FA83F_HUMAN	Homo sapiens family with sequence similarity 83, member F (FAM83F), mRNA.	352								p.A351T(1)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						GGGAGGCGGGCGGCAACCCGG	0.687													T	40417570	C	T	40417570	2	4	1	1	0	0	0	0	0	0	0	1	5688	755	27	1		1	FAM83F	22	40417570	Silent	SNP	C	TCGA-02-0003-01A-01D-1490-08		40417570	10886996	58	58											
PKDREJ	10343	broad.mit.edu	37	chr22	46656782	46656782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaagaatattagacaaaCtcattagtattccagtactc	15	15	4	7	0	1	2	1	0	0	2	3	2	2	2	1	0	2	2	1	0	8	8			TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chr22:46656782C>A	uc003bhh.3	-	0	2438	c.2438G>T	c.(2437-2439)aGt>aTt	p.S813I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	813	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATTAGACAAACTCATTAGTAT	0.348													A	46656782	C	A	46656782	3	1	1	1	0	0	0	0	1	0	0	0	12047	565	20	4	4327	4	PKDREJ	22	46656782	Missense_Mutation	SNP	C	TCGA-02-0003-01A-01D-1490-08	6239212	46656782	4647784	59	59											
KLHL13	90293	broad.mit.edu	37	chrX	117035907	117035907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtaacattctactgTggctgttaaaaaaaaaaaga	17	12	8	4	0	1	1	0	0	1	1	1	2	1	2	0	2	2	3	0	2	8	5	rs148032932		TCGA-02-0003-01A-01D-1490-08	TCGA-02-0003-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	458f13e0-34f3-4a92-b3b3-9a3c2ee3ef23	0b63ce82-23d2-48d4-be99-3959917d94ea	g.chrX:117035907T>C	uc011mtp.2	-	6	1511	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A	KLHL13_uc004eqk.3_Missense_Mutation_p.T406A|KLHL13_uc004eql.3_Missense_Mutation_p.T457A|KLHL13_uc011mtn.2_Missense_Mutation_p.T297A|KLHL13_uc011mto.2_Missense_Mutation_p.T451A|KLHL13_uc011mtq.2_Missense_Mutation_p.T441A|KLHL13_uc004eqm.3_Missense_Mutation_p.T415A|KLHL13_uc022cde.1_Missense_Mutation_p.T441A	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	457					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CATTCTACTGTGGCTGTTAAA	0.323													C	117035907	T	C	117035907	3	2	1	1	0	0	0	0	1	0	0	0	8427	1696	59	3	606	3	KLHL13	23	117035907	Missense_Mutation	SNP	T	TCGA-02-0003-01A-01D-1490-08		117035907	38234653	60	60											
CYR61	3491	broad.mit.edu	37	chr1	86047880	86047881	+	In_Frame_Ins	INS	-	-	TGG																															cggcctccttggcaaggagcINStgggattcgatgcctccgag																										TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:86047880_86047881insTGG	uc001dle.3	+	2	771_772	c.547_548insTGG	c.(547-549)ctg>cTGGtg	p.183_184insV	CYR61_uc021opf.1_In_Frame_Ins_p.116_117insV	NM_001554	NP_001545	O00622	CYR61_HUMAN	Homo sapiens cysteine-rich, angiogenic inducer, 61 (CYR61), mRNA.	183					cell proliferation|chemotaxis|positive regulation of BMP signaling pathway|positive regulation of cell migration|positive regulation of osteoblast differentiation|positive regulation of osteoblast proliferation|positive regulation of protein kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell growth|regulation of ERK1 and ERK2 cascade|wound healing, spreading of cells	extracellular region	heparin binding|insulin-like growth factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|prostate(1)	5				all cancers(265;0.0216)|Epithelial(280;0.0441)		TGGCAAGGAGCTGGGATTCGAT	0.559											OREG0013583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	TGG	86047881	-	TGG	86047880	7	5	2	1	0	1	1	0	0	0	0	0	4232	796	28	0	557	0	CYR61	1	86047880	In_Frame_Ins	INS	-	TCGA-02-0033-01A-01D-1490-08		86047880	163202741	1	61											
PIGR	5284	broad.mit.edu	37	chr1	207110686	207110686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcggcacagaaatttggCcacgtttgccacctcagggc	8	9	11	13	2	1	1	1	0	0	1	2	1	1	1	3	3	1	2	3	3	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:207110686C>T	uc001hez.3	-	3	983	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PIGR_uc009xbz.3_Missense_Mutation_p.A267T	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	267	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAAATTTGGCCACGTTTGCC	0.592													T	207110686	C	T	207110686	3	4	2	1	0	0	0	0	1	0	0	0	11974	739	26	2	1527	2	PIGR	1	207110686	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	121062806	207110686	42139935	2	62											
LIN9	286826	broad.mit.edu	37	chr1	226426780	226426780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaaattcaatgctgatGggcatggaatatgatttctg	11	13	11	6	1	2	3	1	3	1	0	2	4	2	4	0	2	1	3	0	2	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr1:226426780G>A	uc001hqa.2	-	11	1495	c.1185C>T	c.(1183-1185)ccC>ccT	p.P395P	LIN9_uc001hqb.2_Silent_p.P360P|LIN9_uc001hqc.3_Silent_p.P327P|LIN9_uc009xel.1_Silent_p.P360P	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	379					cell cycle|DNA replication	nucleoplasm		p.P395S(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CAATGCTGATGGGCATGGAAT	0.343													A	226426780	G	A	226426780	2	1	2	1	0	0	0	0	0	0	0	1	8874	1335	47	2		2	LIN9	1	226426780	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	19316094	226426780	22823841	3	63											
FAM126B	285172	broad.mit.edu	37	chr2	201857004	201857004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttaagataataacttacCaatagtggttgagaaaaaag	19	10	9	3	0	0	2	0	1	0	2	0	4	0	2	1	1	2	2	1	1	9	6			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:201857004C>T	uc002uws.4	-	10	1019	c.831_splice	c.e10+1	p.L277_splice	FAM126B_uc002uwu.3_Splice_Site_p.L195_splice|FAM126B_uc002uwv.3_Splice_Site_p.L277_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	277						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AATAACTTACCAATAGTGGTT	0.333													T	201857004	C	T	201857004	2	4	2	1	0	0	0	0	0	0	0	1	5475	608	21	2		2	FAM126B	2	201857004	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		201857004	41342369	4	64											
IRS1	3667	broad.mit.edu	37	chr2	227662172	227662172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactggagccatactcatccGaggagatgaaaccgccatcg	12	6	11	12	3	1	2	1	1	0	1	3	6	2	3	4	2	3	0	4	2	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr2:227662172G>A	uc021vxn.1	-	0	1283	c.1283C>T	c.(1282-1284)tCg>tTg	p.S428L	IRS1_uc002voh.4_Missense_Mutation_p.S428L	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	428	Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.S428L(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ATACTCATCCGAGGAGATGAA	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662172	G	A	227662172	3	1	2	1	0	0	0	0	1	0	0	0	7898	1059	37	1	2449	1	IRS1	2	227662172	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	25805168	227662172	15537201	5	65											
FLNB	2317	broad.mit.edu	37	chr3	58140654	58140654	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatattgcccaagagccTggtatgtattcagggttcac	9	14	9	9	0	3	1	2	0	1	1	3	1	3	1	2	2	2	3	2	2	5	7			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:58140654T>C	uc003djj.2	+	40	6937	c.6772_splice	c.e40+1	p.G2258_splice	FLNB_uc010hne.2_Splice_Site_p.G2289_splice|FLNB_uc003djk.2_Splice_Site_p.G2247_splice|FLNB_uc010hnf.2_Splice_Site_p.G2234_splice|FLNB_uc003djl.2_Splice_Site_p.G2078_splice|FLNB_uc003djm.2_Splice_Site_p.G2065_splice	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2258	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.G2258fs*36(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCAAGAGCCTGGTATGTATT	0.453													C	58140654	T	C	58140654	2	2	2	1	0	0	0	0	0	0	0	1	5983	1594	55	3		3	FLNB	3	58140654	Silent	SNP	T	TCGA-02-0033-01A-01D-1490-08		58140654	139881776	6	66											
HLTF	6596	broad.mit.edu	37	chr3	148804115	148804115	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccttcacctcttgaacatCcaggacatggcgctgagtgg	8	9	10	14	1	2	2	1	2	1	0	3	3	3	3	4	3	1	1	4	3	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:148804115C>T	uc003ewq.1	-	0	227	c.9G>A	c.(7-9)tgG>tgA	p.W3*	HLTF_uc003ewr.1_Nonsense_Mutation_p.W3*|HLTF_uc003ews.1_Nonsense_Mutation_p.W3*|HLTF_uc010hve.1_Nonsense_Mutation_p.W3*	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	3					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCTTGAACATCCAGGACATGG	0.652													T	148804115	C	T	148804115	4	4	2	1	0	0	0	0	0	1	0	0	7270	856	30	2	3120	2	HLTF	3	148804115	Nonsense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	90663461	148804115	49218315	7	67											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr3:178936082G>A	uc003fjk.3	+	9	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(1231)|p.E542Q(18)|p.E542V(8)|p.(542_545)E>K(4)|p.E542G(2)|p.E542A(2)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	2	1	0	0	0	0	1	0	0	0	11990	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	30131967	178936082	19086348	8	68											
LARP1B	55132	broad.mit.edu	37	chr4	129003366	129003366	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttagatgttgtaagatcAgagagtcaagaaagacctgg	15	9	11	6	0	2	5	2	0	0	5	2	6	2	5	1	1	0	2	1	1	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr4:129003366A>G	uc003iga.3	+	4	395	c.264A>G	c.(262-264)tcA>tcG	p.S88S	LARP1B_uc003ifw.1_Intron|LARP1B_uc003ifx.3_Silent_p.S88S|LARP1B_uc003ify.3_Silent_p.S88S|LARP1B_uc003ifz.1_Silent_p.S88S	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	88							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						TTGTAAGATCAGAGAGTCAAG	0.373													G	129003366	A	G	129003366	2	3	2	1	0	0	0	0	0	0	0	1	8688	175	7	3		3	LARP1B	4	129003366	Silent	SNP	A	TCGA-02-0033-01A-01D-1490-08		129003366	62150910	9	69											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167909	140167909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggccaggcgccaaaggcGtcttcgcgggcgtcggtggg	5	5	19	12	7	1	0	0	0	1	0	3	0	1	0	2	6	1	0	2	6	1	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:140167909G>A	uc003lhb.2	+	0	2034	c.2034G>A	c.(2032-2034)gcG>gcA	p.A678A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A678A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	687	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A678A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCAAAGGCGTCTTCGCGGG	0.662													A	140167909	G	A	140167909	2	1	2	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140167909	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		140167909	40747351	10	70											
HRH2	3274	broad.mit.edu	37	chr5	175110363	175110363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtcgtctgtctggccGtgggcttgaaccgccggctc	3	11	15	12	4	2	1	0	1	2	0	4	1	2	1	3	4	1	2	3	4	1	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr5:175110363G>A	uc003mdc.4	+	1	771	c.127G>A	c.(127-129)Gtg>Atg	p.V43M	HRH2_uc003mdd.2_Missense_Mutation_p.V43M	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	43					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CTGTCTGGCCGTGGGCTTGAA	0.587													A	175110363	G	A	175110363	3	1	2	1	0	0	0	0	1	0	0	0	7411	1145	40	1	129	1	HRH2	5	175110363	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	34942454	175110363	5804897	11	71											
SEMA3C	10512	broad.mit.edu	37	chr7	80546078	80546078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatactccaaccaacacgCaaattgtccggaatgccatt	15	9	5	12	2	0	0	0	0	0	0	2	1	2	1	4	1	4	1	4	1	7	4			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:80546078C>A	uc011kgw.2	-	1	153	c.74G>T	c.(73-75)tGc>tTc	p.C25F	SEMA3C_uc003uhj.3_Missense_Mutation_p.C7F|SEMA3C_uc011kgx.1_5'UTR	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	7					immune response|response to drug	membrane	receptor activity	p.P25H(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACCAACACGCAAATTGTCCG	0.353													A	80546078	C	A	80546078	3	1	2	1	0	0	0	0	1	0	0	0	14119	710	25	4	2303	4	SEMA3C	7	80546078	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		80546078	78592585	12	72											
PDIA4	9601	broad.mit.edu	37	chr7	148703125	148703125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcacgaagtccttgatGgccgagtcctgggtggagcc	7	9	14	11	2	1	1	1	1	0	0	3	4	3	2	4	3	2	1	4	3	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr7:148703125G>A	uc003wff.2	-	7	1434	c.1152C>T	c.(1150-1152)gcC>gcT	p.A384A		NM_004911	NP_004902	P13667	PDIA4_HUMAN	Homo sapiens protein disulfide isomerase family A, member 4 (PDIA4), mRNA.	384					cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGTCCTTGATGGCCGAGTCCT	0.592											OREG0018420	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	148703125	G	A	148703125	2	1	2	1	0	0	0	0	0	0	0	1	11746	1335	47	2		2	PDIA4	7	148703125	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	68157047	148703125	10435538	13	73											
ZDHHC2	51201	broad.mit.edu	37	chr8	17072848	17072848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagcataaacccaggaaaAtgcaaagctggtaagggtgt	16	6	12	7	0	0	0	0	0	0	0	0	1	0	1	1	3	5	5	1	3	6	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:17072848A>G	uc003wxe.3	+	10	1450	c.1053A>G	c.(1051-1053)aaA>aaG	p.K351K		NM_016353	NP_057437	Q9UIJ5	ZDHC2_HUMAN	Homo sapiens zinc finger, DHHC-type containing 2 (ZDHHC2), mRNA.	351						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|pancreas(1)|stomach(1)	8				Colorectal(111;0.0697)|COAD - Colon adenocarcinoma(73;0.244)		ACCCAGGAAAATGCAAAGCTG	0.403													G	17072848	A	G	17072848	2	3	2	1	0	0	0	0	0	0	0	1	17711	98	4	3		3	ZDHHC2	8	17072848	Silent	SNP	A	TCGA-02-0033-01A-01D-1490-08		17072848	129291174	14	74											
FBXO16	157574	broad.mit.edu	37	chr8	28321322	28321322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttctttgagagtctGtccatttgtcaaactggaaa	9	17	7	8	0	5	1	1	1	4	1	6	3	6	2	1	1	1	0	1	1	2	5			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr8:28321322G>T	uc003xgu.3	-	3	247	c.149C>A	c.(148-150)aCa>aAa	p.T50K	ZNF395_uc003xgt.3_5'UTR|FBXO16_uc003xgv.3_Missense_Mutation_p.T37K	NM_172366	NP_758954	Q8IX29	FBX16_HUMAN	Homo sapiens F-box protein 16 (FBXO16), mRNA.	50										large_intestine(2)|ovary(1)	3		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.121)|Kidney(114;0.144)|Colorectal(74;0.249)		TTGAGAGTCTGTCCATTTGTC	0.428													T	28321322	G	T	28321322	3	4	2	1	0	0	0	0	1	0	0	0	5778	1377	48	4	753	4	FBXO16	8	28321322	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	11248474	28321322	118042700	15	75											
KIAA0020	9933	broad.mit.edu	37	chr9	2829854	2829854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggctttgtcattgtatgCgtactccacgatggctgatg	8	14	11	8	2	1	1	1	1	0	0	2	2	2	1	1	2	2	4	1	2	3	4	rs62534389		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:2829854C>T	uc003zhp.1	-	7	868	c.772G>A	c.(772-774)Gca>Aca	p.A258T	KIAA0020_uc003zhq.1_Missense_Mutation_p.A257T	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	258	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TCATTGTATGCGTACTCCACG	0.458													T	2829854	C	T	2829854	3	4	2	1	0	0	0	0	1	0	0	0	8210	768	27	1	1218	1	KIAA0020	9	2829854	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		2829854	138383577	16	76											
FAM75C1	441452	broad.mit.edu	37	chr9	90537820	90537820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccgtcagaatgaaggcGtccagctactgccatcaaag	13	6	9	13	2	2	2	2	1	0	1	3	2	3	2	3	1	3	1	3	1	4	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:90537820G>A	uc010mqi.3	+	3	3027	c.2998G>A	c.(2998-3000)Gtc>Atc	p.V1000I	FAM75C1_uc004apq.4_Missense_Mutation_p.V983I|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GAATGAAGGCGTCCAGCTACT	0.408													A	90537820	G	A	90537820	3	1	2	1	0	0	0	0	1	0	0	0	5673	1145	40	1	3012	1	FAM75C1	9	90537820	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	87707966	90537820	50675611	17	77											
EGFL7	51162	broad.mit.edu	37	chr9	139564727	139564727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacagcctgtctgcagaCggtacactctgtgtgcccaa	8	8	12	13	1	2	1	0	0	2	1	2	1	2	1	2	2	4	3	2	2	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr9:139564727C>T	uc004cid.3	+	6	1427	c.516C>T	c.(514-516)gaC>gaT	p.D172D	EGFL7_uc010nbp.3_Silent_p.D172D|EGFL7_uc004cie.3_Silent_p.D172D|EGFL7_uc004cif.3_Silent_p.D172D|EGFL7_uc004cih.3_Silent_p.D172D|MIR126_uc022bps.1_5'Flank	NM_201446	NP_958854	Q9UHF1	EGFL7_HUMAN	Homo sapiens EGF-like-domain, multiple 7 (EGFL7), transcript variant 2, mRNA.	172	EGF-like 2; calcium-binding (Potential).				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		TGTCTGCAGACGGTACACTCT	0.677													T	139564727	C	T	139564727	2	4	2	1	0	0	0	0	0	0	0	1	5003	535	19	1		1	EGFL7	9	139564727	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	49026907	139564727	1648704	18	78											
ADARB2	105	broad.mit.edu	37	chr10	1405297	1405297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgaacagctcctgcagtgCggcctgcgcggcctgacccc	5	6	13	17	4	0	1	0	1	0	0	2	2	1	1	5	2	5	2	5	2	1	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:1405297C>T	uc009xhq.3	-	2	1329	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	335	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCCTGCAGTGCGGCCTGCGCG	0.746													T	1405297	C	T	1405297	3	4	2	1	0	0	0	0	1	0	0	0	283	768	27	1	1248	1	ADARB2	10	1405297	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		1405297	134129450	19	79											
FGFR2	2263	broad.mit.edu	37	chr10	123298220	123298220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataatgaggctccagtgctGgtttcgtacctgaaaagatc	11	11	10	9	1	0	3	0	2	0	1	3	3	1	3	2	2	2	4	2	2	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr10:123298220G>T	uc021pzz.1	-	5	1281	c.634C>A	c.(634-636)Cag>Aag	p.Q212K	FGFR2_uc021pzv.1_Missense_Mutation_p.Q212K|FGFR2_uc021pzw.1_Missense_Mutation_p.Q97K|FGFR2_uc021pzx.1_Missense_Mutation_p.Q123K|FGFR2_uc021pzy.1_Missense_Mutation_p.Q212K|FGFR2_uc010qtl.2_Missense_Mutation_p.Q212K|FGFR2_uc010qtm.2_Missense_Mutation_p.Q97K|FGFR2_uc021qaa.1_Missense_Mutation_p.Q212K|FGFR2_uc021qab.1_Missense_Mutation_p.Q123K|FGFR2_uc021qac.1_Missense_Mutation_p.Q142K|FGFR2_uc001lfn.4_Non-coding_Transcript|FGFR2_uc010qtn.2_Missense_Mutation_p.Q231K|FGFR2_uc010qto.2_Missense_Mutation_p.Q116K|FGFR2_uc001lfo.1_Missense_Mutation_p.Q231K|FGFR2_uc010qtp.2_Missense_Mutation_p.Q231K|FGFR2_uc010qtq.2_Missense_Mutation_p.Q231K	NM_000141	NP_000132	P21802	FGFR2_HUMAN	Homo sapiens fibroblast growth factor receptor 2 (FGFR2), transcript variant 1, mRNA.	212	Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	p.Q212K(2)|p.N211I(1)		breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CTCCAGTGCTGGTTTCGTACC	0.418		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				T	123298220	G	T	123298220	3	4	2	1	0	0	0	0	1	0	0	0	5915	1357	47	4	2139	4	FGFR2	10	123298220	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	121892923	123298220	12236527	20	80											
SLC22A9	114571	broad.mit.edu	37	chr11	63141216	63141216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcatttactgctcactaCgcttcttgtctgggattgct	5	17	7	12	1	4	0	2	0	2	0	5	1	5	1	1	1	4	3	1	1	2	6			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:63141216C>T	uc001nww.3	+	2	875	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	SLC22A9_uc001nwx.3_Intron	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	203					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGCTCACTACGCTTCTTGTC	0.458													T	63141216	C	T	63141216	3	4	2	1	0	0	0	0	1	0	0	0	14555	536	19	1	617	1	SLC22A9	11	63141216	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		63141216	71865300	21	81											
TSKU	25987	broad.mit.edu	37	chr11	76506917	76506917	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccgggctacacgacgtTggctggcctggatctcagcc	5	7	16	13	3	1	0	1	0	1	0	2	2	1	1	3	6	2	3	3	6	1	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr11:76506917T>G	uc021qno.1	+	0	257	c.257T>G	c.(256-258)tTg>tGg	p.L86W	TSKU_uc001oxt.3_Missense_Mutation_p.L86W	NM_015516	NP_056331	Q8WUA8	TSK_HUMAN	Homo sapiens tsukushi small leucine rich proteoglycan homolog (Xenopus laevis) (TSKU), mRNA.	86						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					TACACGACGTTGGCTGGCCTG	0.632													G	76506917	T	G	76506917	3	3	2	1	0	0	0	0	1	0	0	0	16728	1821	63	5	259	5	TSKU	11	76506917	Missense_Mutation	SNP	T	TCGA-02-0033-01A-01D-1490-08	13365701	76506917	58499599	22	82											
GPR19	2842	broad.mit.edu	37	chr12	12814147	12814155	+	In_Frame_Del	DEL	ATTTGGTGG	ATTTGGTGG	-																															atgagaacttagacaaaagtAtttggtggatttgagttaat																								rs61733942		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12814147_12814155delATTTGGTGG	uc001rar.3	-	1	1421_1429	c.1228_1236delCCACCAAAT	c.(1228-1236)ccaccaaatdel	p.PPN410del	GPR19_uc001raq.2_In_Frame_Del_p.PPN410del|GPR19_uc021qvj.1_In_Frame_Del_p.PPN410del	NM_006143	NP_006134	Q15760	GPR19_HUMAN	Homo sapiens G protein-coupled receptor 19 (GPR19), mRNA.	410						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(47;0.0802)		BRCA - Breast invasive adenocarcinoma(232;0.048)		AGACAAAAGTATTTGGTGGATTTGAGTTA	0.34													-	12814155	ATTTGGTGG	-	12814147	7	5	2	1	0	1	0	1	0	0	0	0	6733	446	16	0	15	0	GPR19	12	12814147	In_Frame_Del	DEL	ATTTGGTGG	TCGA-02-0033-01A-01D-1490-08		12814147	121037748	23	83											
CDKN1B	1027	broad.mit.edu	37	chr12	12871093	12871093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccggcgcaggagagccAggatgtcagcgggagccgcc	7	3	19	12	4	1	1	1	0	0	1	1	4	1	3	4	5	4	1	4	5	0	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:12871093A>G	uc001rat.2	+	0	792	c.320A>G	c.(319-321)cAg>cGg	p.Q107R		NM_004064	NP_004055	P46527	CDN1B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1B (p27, Kip1) (CDKN1B), mRNA.	107					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CAGGAGAGCCAGGATGTCAGC	0.642													G	12871093	A	G	12871093	3	3	2	1	0	0	0	0	1	0	0	0	3189	188	7	3	322	3	CDKN1B	12	12871093	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	56946	12871093	120980802	24	84											
ITGA7	3679	broad.mit.edu	37	chr12	56078847	56078847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacatgggaacctaggCggtgcctggccctggatgcc	6	7	16	12	1	0	0	0	0	0	0	0	3	0	3	4	6	3	0	4	6	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56078847C>T	uc001shh.3	-	24	3641	c.3421G>A	c.(3421-3423)Gcc>Acc	p.A1141T	ITGA7_uc001shg.3_Missense_Mutation_p.A1137T|ITGA7_uc010sps.2_Missense_Mutation_p.A1044T|ITGA7_uc001shf.3_3'UTR|ITGA7_uc009znw.3_Missense_Mutation_p.A384T|ITGA7_uc009znx.3_Missense_Mutation_p.A1018T	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	1181					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity	p.A1141T(1)|p.A1137T(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GGAACCTAGGCGGTGCCTGGC	0.697													T	56078847	C	T	56078847	3	4	2	1	0	0	0	0	1	0	0	0	7939	768	27	1	8	1	ITGA7	12	56078847	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	43207754	56078847	77773048	25	85											
ANKRD52	283373	broad.mit.edu	37	chr12	56639298	56639298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggccaggtgaatgggcGtgcggcccttaaagtctcgg	7	8	16	10	3	1	2	0	2	1	0	2	2	1	2	2	5	1	0	2	5	3	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:56639298G>A	uc001skm.4	-	20	2357	c.2267C>T	c.(2266-2268)aCg>aTg	p.T756M		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	756							protein binding	p.T756M(2)		endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						GTGAATGGGCGTGCGGCCCTT	0.627													A	56639298	G	A	56639298	3	1	2	1	0	0	0	0	1	0	0	0	678	1145	40	1	995	1	ANKRD52	12	56639298	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	560451	56639298	77212597	26	86											
ACADS	35	broad.mit.edu	37	chr12	121176680	121176680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggctgctgacctggcgcGctgccatgctgaaggataac	7	7	13	14	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:121176680G>A	uc001tza.4	+	7	1109	c.991G>A	c.(991-993)Gct>Act	p.A331T	ACADS_uc010szl.1_Missense_Mutation_p.A327T	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	331						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GACCTGGCGCGCTGCCATGCT	0.637													A	121176680	G	A	121176680	3	1	2	1	0	0	0	0	1	0	0	0	114	1087	38	1	1021	1	ACADS	12	121176680	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	64537382	121176680	12675215	27	87											
WDR66	144406	broad.mit.edu	37	chr12	122437781	122437781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagagctttgaggtgctcGgttataccaactccaaaggg	12	9	11	9	1	0	2	0	1	0	1	2	2	1	2	2	3	4	3	2	3	5	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr12:122437781G>A	uc009zxk.3	+	19	3325	c.3166G>A	c.(3166-3168)Ggt>Agt	p.G1056S		NM_144668	NP_653269	Q8TBY9	WDR66_HUMAN	Homo sapiens WD repeat domain 66 (WDR66), transcript variant 1, mRNA.	1056							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		TGAGGTGCTCGGTTATACCAA	0.448													A	122437781	G	A	122437781	3	1	2	1	0	0	0	0	1	0	0	0	17419	1116	39	1	3299	1	WDR66	12	122437781	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	1261101	122437781	11414114	28	88											
TNFSF11	8600	broad.mit.edu	37	chr13	43180986	43180986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcatcgaggtctccaacCcctccttactggatccggat	8	10	8	15	2	2	0	1	0	1	0	6	3	4	2	5	3	3	1	5	3	2	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:43180986C>T	uc001uyu.2	+	4	1035	c.886C>T	c.(886-888)Ccc>Tcc	p.P296S	TNFSF11_uc001uyt.2_Missense_Mutation_p.P223S	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	296					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		GGTCTCCAACCCCTCCTTACT	0.418													T	43180986	C	T	43180986	3	4	2	1	0	0	0	0	1	0	0	0	16402	623	22	2	904	2	TNFSF11	13	43180986	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		43180986	71988892	29	89											
RB1	5925	broad.mit.edu	37	chr13	49033967	49033967	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagacaggcatttggacCaagtaagaaaatcaagcact	17	7	10	7	0	1	3	1	1	0	2	1	5	1	4	1	2	1	3	1	2	5	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr13:49033967C>T	uc001vcb.3	+	19	2270	c.2104C>T	c.(2104-2106)Caa>Taa	p.Q702*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	702	Domain B.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.Q702*(4)|p.Q702K(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GCATTTGGACCAAGTAAGAAA	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49033967	C	T	49033967	4	4	2	1	0	0	0	0	0	1	0	0	13186	595	21	2	2182	2	RB1	13	49033967	Nonsense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08	5852981	49033967	66135911	30	90											
HCN4	10021	broad.mit.edu	37	chr15	73614906	73614906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagtcagagggggcccCccagaagaggtggctcttgc	8	5	15	13	0	2	3	1	0	1	3	2	3	2	3	4	4	2	2	4	4	1	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr15:73614906C>T	uc002avp.3	-	7	4522	c.3528G>A	c.(3526-3528)ggG>ggA	p.G1176G		NM_005477	NP_005468	Q9Y3Q4	HCN4_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 4 (HCN4), mRNA.	1176					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GAGGGGGCCCCCCAGAAGAGG	0.627													T	73614906	C	T	73614906	2	4	2	1	0	0	0	0	0	0	0	1	7054	610	22	2		2	HCN4	15	73614906	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		73614906	28916486	31	91											
ACSM5	54988	broad.mit.edu	37	chr16	20439127	20439127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagactctctccaaattcccGataaccaccctctgctgtgt	9	12	5	15	1	2	1	0	0	2	1	5	2	4	1	4	0	2	1	4	0	3	3	rs12922063		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:20439127G>A	uc002dhe.3	+	6	1086	c.939G>A	c.(937-939)ccG>ccA	p.P313P		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	313					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						CCAAATTCCCGATAACCACCC	0.473													A	20439127	G	A	20439127	2	1	2	1	0	0	0	0	0	0	0	1	187	1045	37	1		1	ACSM5	16	20439127	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		20439127	69915626	32	92											
ITGAD	3681	broad.mit.edu	37	chr16	31409190	31409190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctcctgctgggctcGcgctgggagatcatccagac	5	9	12	15	2	1	2	1	0	0	2	5	3	4	2	4	2	2	3	4	2	0	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:31409190G>A	uc010cap.1	+	4	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S	ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	129					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642													A	31409190	G	A	31409190	2	1	2	1	0	0	0	0	0	0	0	1	7942	1074	38	1		1	ITGAD	16	31409190	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08	10970063	31409190	58945563	33	93											
CETP	1071	broad.mit.edu	37	chr16	57007243	57007243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcgtcctggcttcctccagGgtcatttcatctacaagaat	9	12	8	12	1	3	1	2	0	1	1	6	1	6	1	3	2	2	1	3	2	3	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr16:57007243G>A	uc002eki.2	+	9	808	c.751_splice	c.e9-1	p.G251_splice	CETP_uc002ekj.2_Intron	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	251					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CTTCCTCCAGGGTCATTTCAT	0.597													A	57007243	G	A	57007243	3	1	2	1	0	0	0	0	1	0	0	0	3307	1246	43	2	785	2	CETP	16	57007243	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	25598053	57007243	33347510	34	94											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	2	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		7577538	73617672	35	95											
NF1	4763	broad.mit.edu	37	chr17	29586049	29586049	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaccctgttttattgtgtaGatacttcagagtattgccaa	11	16	7	7	0	1	2	1	0	0	2	1	2	1	2	2	0	3	3	2	0	6	9	rs149784315	by1000genomes	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:29586049G>A	uc002hgg.3	+	33	4716	c.4333_splice	c.e33-1	p.I1445_splice	NF1_uc002hgh.3_Splice_Site_p.I1424_splice|NF1_uc002hgi.1_Splice_Site_p.I457_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1445	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTATTGTGTAGATACTTCAGA	0.303			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29586049	G	A	29586049	5	1	2	1	0	0	0	0	0	0	1	0	10432	956	33	2	4523	2	NF1	17	29586049	Splice_Site	SNP	G	TCGA-02-0033-01A-01D-1490-08	22008511	29586049	51609161	36	96											
BZRAP1	9256	broad.mit.edu	37	chr17	56382781	56382781	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcgtccatgcccccaaaCacagtaatgacatcccctgc	11	8	5	17	1	1	1	1	1	0	0	4	1	3	1	5	0	3	1	5	0	2	1	rs149705380	byFrequency	TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:56382781C>A	uc002ivx.4	-	28	6271	c.5400G>T	c.(5398-5400)gtG>gtT	p.V1800V	BZRAP1_uc002ivv.3_5'Flank|BZRAP1_uc002ivw.3_Silent_p.V32V|BZRAP1_uc010dcs.3_Silent_p.V1740V|BZRAP1_uc010wnt.2_Silent_p.V1791V	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	1800	SH3 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGCCCCCAAACACAGTAATGA	0.587													A	56382781	C	A	56382781	2	1	2	1	0	0	0	0	0	0	0	1	1587	465	17	4		4	BZRAP1	17	56382781	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	26796732	56382781	24812429	37	97											
ITGB4	3691	broad.mit.edu	37	chr17	73729694	73729694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggcactgtgtgtgctaCggcgaaggccgctacgaggg	6	7	18	10	5	0	0	0	0	0	0	0	2	0	0	1	4	4	3	1	4	3	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr17:73729694C>T	uc002jpg.3	+	12	1765	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y	ITGB4_uc002jph.3_Silent_p.Y526Y|ITGB4_uc010dgo.3_Silent_p.Y526Y|ITGB4_uc002jpi.4_Silent_p.Y526Y|ITGB4_uc010dgp.1_Silent_p.Y526Y|ITGB4_uc002jpj.3_Silent_p.Y526Y|ITGB4_uc010wsh.1_Silent_p.Y81Y	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	526	Cysteine-rich tandem repeats.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGTGTGCTACGGCGAAGGCC	0.642													T	73729694	C	T	73729694	2	4	2	1	0	0	0	0	0	0	0	1	7955	547	19	1		1	ITGB4	17	73729694	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08	17346913	73729694	7465516	38	98											
PEX11G	92960	broad.mit.edu	37	chr19	7542216	7542217	+	Frame_Shift_Ins	INS	-	-	C																															gcccacagcacgccccggggINScagccagtgcacggcgttgg																										TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:7542216_7542217insC	uc002mgk.1	-	4	606_607	c.597_598insG	c.(595-600)ctgcccfs	p.L199fs	PEX11G_uc002mgl.1_Frame_Shift_Ins_p.L129fs	NM_080662	NP_542393	Q96HA9	PX11C_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 gamma (PEX11G), mRNA.	199						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						ACGCCCCGGGGCAGCCAGTGCA	0.713													C	7542217	-	C	7542216	7	5	2	1	0	1	1	0	0	0	0	0	11816	1203	42	0	131	0	PEX11G	19	7542216	Frame_Shift_Ins	INS	-	TCGA-02-0033-01A-01D-1490-08		7542216	51586767	39	99											
ZNF99	7652	broad.mit.edu	37	chr19	22940645	22940645	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttcctaagggctgagAaatggttaaaagccttgcca	12	12	10	7	0	0	1	0	1	0	1	1	2	1	1	3	2	2	3	3	2	5	5			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:22940645A>T	uc021urt.1	-	3	2221	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAGGGCTGAGAAATGGTTAAA	0.368													T	22940645	A	T	22940645	3	4	2	1	0	0	0	0	1	0	0	0	18303	246	9	5	1331	5	ZNF99	19	22940645	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	15398429	22940645	36188338	40	100											
KIAA0355	9710	broad.mit.edu	37	chr19	34819037	34819037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaatgagtcggccgccgAcaatctgaaacttaagacgg	12	9	10	10	4	1	3	0	2	1	1	2	4	1	3	2	2	1	0	2	2	4	3			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:34819037A>G	uc002nvd.4	+	5	1944	c.1085A>G	c.(1084-1086)gAc>gGc	p.D362G		NM_014686	NP_055501	O15063	K0355_HUMAN	Homo sapiens KIAA0355 (KIAA0355), mRNA.	362										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TCGGCCGCCGACAATCTGAAA	0.512													G	34819037	A	G	34819037	3	3	2	1	0	0	0	0	1	0	0	0	8228	275	10	3	1103	3	KIAA0355	19	34819037	Missense_Mutation	SNP	A	TCGA-02-0033-01A-01D-1490-08	11878392	34819037	24309946	41	101											
DPF1	8193	broad.mit.edu	37	chr19	38713080	38713080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacagcgggcggggtacGtgtaaatctgtcccggggcc	7	7	15	12	4	1	0	0	0	1	0	3	0	3	0	3	5	3	2	3	5	4	2			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr19:38713080G>A	uc021uty.1	-	2	323	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DPF1_uc002ohm.3_Missense_Mutation_p.T99M|DPF1_uc002ohl.3_Missense_Mutation_p.T99M|DPF1_uc002ohn.3_Missense_Mutation_p.T17M|DPF1_uc010xtw.1_Missense_Mutation_p.T73M	NM_001135155	NP_001128627	Q92782	DPF1_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 1 (DPF1), transcript variant 1, mRNA.	99					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GGCGGGGTACGTGTAAATCTG	0.697													A	38713080	G	A	38713080	3	1	2	1	0	0	0	0	1	0	0	0	4755	1145	40	1	1018	1	DPF1	19	38713080	Missense_Mutation	SNP	G	TCGA-02-0033-01A-01D-1490-08	3894043	38713080	20415903	42	102											
TAF4	6874	broad.mit.edu	37	chr20	60581775	60581775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctggatgaaggccgCggagtcgggggtcagctgtc	5	8	18	10	3	2	1	1	1	1	0	4	3	2	3	1	5	2	3	1	5	1	0			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr20:60581775C>T	uc002ybs.3	-	6	2014	c.2014G>A	c.(2014-2016)Gcg>Acg	p.A672T		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	672	TAFH.				interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGAAGGCCGCGGAGTCGGGG	0.662													T	60581775	C	T	60581775	3	4	2	1	0	0	0	0	1	0	0	0	15623	768	27	1	1279	1	TAF4	20	60581775	Missense_Mutation	SNP	C	TCGA-02-0033-01A-01D-1490-08		60581775	2443745	43	103											
KRTAP6-3	337968	broad.mit.edu	37	chr21	31964779	31964779	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggatgacctcaacaacCaacaccatgtgtggcagcta	14	6	8	13	0	1	1	1	1	0	0	1	2	1	2	4	2	4	2	4	2	5	1			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chr21:31964779C>A	uc002yom.3	+	0	21	c.15C>A	c.(13-15)acC>acA	p.T5T	KRTAP22-2_uc021wih.1_5'Flank	NM_181605	NP_853636			Homo sapiens keratin associated protein 6-3 (KRTAP6-3), mRNA.											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(7)	10						CCTCAACAACCAACACCATGT	0.522													A	31964779	C	A	31964779	2	1	2	1	0	0	0	0	0	0	0	1	8630	581	21	4		4	KRTAP6-3	21	31964779	Silent	SNP	C	TCGA-02-0033-01A-01D-1490-08		31964779	16165116	44	104											
ZNF280C	55609	broad.mit.edu	37	chrX	129370452	129370452	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatgtttaccttttgacaGcataacttgggaggatgtca	10	15	9	7	0	2	1	2	1	0	0	2	3	2	3	1	2	3	2	1	2	2	7			TCGA-02-0033-01A-01D-1490-08	TCGA-02-0033-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39d1f122-31d0-4e1c-95a7-0e65e75b1457	d456abad-4114-4c44-9d80-fe569abe7cda	g.chrX:129370452G>A	uc004evm.3	-	6	858	c.655C>T	c.(655-657)Ctg>Ttg	p.L219L	ZNF280C_uc010nrf.2_Silent_p.L219L	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	219	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CCTTTTGACAGCATAACTTGG	0.328													A	129370452	G	A	129370452	2	1	2	1	0	0	0	0	0	0	0	1	17917	962	34	2		2	ZNF280C	23	129370452	Silent	SNP	G	TCGA-02-0033-01A-01D-1490-08		129370452	25900108	45	105											
VPS13D	55187	broad.mit.edu	37	chr1	12418559	12418559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatccagaaggcatgcCgggctggtgtcagggcttct	7	10	14	10	1	3	1	2	0	1	1	4	2	4	1	2	4	1	3	2	4	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:12418559C>T	uc001atv.3	+	49	10184	c.10043C>T	c.(10042-10044)cCg>cTg	p.P3348L	VPS13D_uc001atw.3_Missense_Mutation_p.P3323L|VPS13D_uc001atx.3_Missense_Mutation_p.P2535L	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3347					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GAAGGCATGCCGGGCTGGTGT	0.512													T	12418559	C	T	12418559	3	4	3	1	0	0	0	0	1	0	0	0	17294	652	23	1	10237	1	VPS13D	1	12418559	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		12418559	236832062	1	106											
RPL11	6135	broad.mit.edu	37	chr1	24018320	24018320	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgctctccatcatggcgGtgagtagctgggacctggat	6	11	13	11	1	2	1	1	1	1	0	4	3	3	3	3	4	2	3	3	4	1	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:24018320G>C	uc001bhk.3	+	1	51	c.6_splice	c.e1+1	p.A2_splice	RPL11_uc001bhl.3_Splice_Site_p.A2_splice	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	2					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		CATCATGGCGGTGAGTAGCTG	0.607											OREG0013231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	24018320	G	C	24018320	5	2	3	1	0	0	0	0	0	0	1	0	13648	1275	44	4	9	4	RPL11	1	24018320	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	11599761	24018320	225232301	2	107											
LEPR	3953	broad.mit.edu	37	chr1	66083830	66083830	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taagaagtattatatccatgGtaagtttactatactttagt	14	17	6	4	0	0	1	0	0	0	1	1	1	1	1	1	1	2	3	1	1	10	11			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:66083830G>T	uc001dci.3	+	16	2784	c.2395_splice	c.e16+1	p.D799_splice	LEPR_uc001dcg.3_Splice_Site_p.D799_splice|LEPR_uc001dch.3_Splice_Site_p.D799_splice|LEPR_uc009waq.3_Intron|LEPR_uc021ool.1_Splice_Site_p.D799_splice|LEPR_uc001dcj.3_Splice_Site_p.D799_splice|LEPR_uc001dck.3_Splice_Site_p.D799_splice	NM_002303	NP_002294	P48357	LEPR_HUMAN	Homo sapiens leptin receptor (LEPR), transcript variant 1, mRNA.	799	Fibronectin type-III 4.				energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		TATATCCATGGTAAGTTTACT	0.259													T	66083830	G	T	66083830	5	4	3	1	0	0	0	0	0	0	1	0	8787	1275	44	4	2450	4	LEPR	1	66083830	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	42065510	66083830	183166791	3	108											
RPL5	6125	broad.mit.edu	37	chr1	93299218	93299218	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagagatatcatttgtcagGtaagttgtattctagacagt	13	14	9	5	0	3	2	2	0	1	2	3	3	3	2	0	1	0	3	0	1	4	7			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:93299218G>C	uc001doz.3	+	3	267	c.189_splice	c.e3+1	p.Q63_splice	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Splice_Site|RPL5_uc001dpb.3_Splice_Site_p.Q13_splice|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	63					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CATTTGTCAGGTAAGTTGTAT	0.393													C	93299218	G	C	93299218	5	2	3	1	0	0	0	0	0	0	1	0	13688	1275	44	4	200	4	RPL5	1	93299218	Splice_Site	SNP	G	TCGA-02-0047-01A-01D-1490-08	27215388	93299218	155951403	4	109											
CD101	9398	broad.mit.edu	37	chr1	117552817	117552817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaacactgatgagaaatActatggaagttacagtgcaa	18	8	8	7	0	0	2	0	2	0	1	0	4	0	3	1	1	4	2	1	1	7	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:117552817A>T	uc010oxb.1	+	1	447	c.389A>T	c.(388-390)tAc>tTc	p.Y130F	CD101_uc009whd.3_Missense_Mutation_p.Y130F|CD101_uc010oxc.1_Missense_Mutation_p.Y130F|CD101_uc010oxd.1_Missense_Mutation_p.Y130F	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	130	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATGAGAAATACTATGGAAGT	0.463													T	117552817	A	T	117552817	3	4	3	1	0	0	0	0	1	0	0	0	2992	391	14	5	395	5	CD101	1	117552817	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	24253599	117552817	131697804	5	110											
PTPRC	5788	broad.mit.edu	37	chr1	198721383	198721383	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcttttatctaggaaatCtgtgctcagtactggggaga	9	15	10	7	0	5	1	1	0	4	1	5	3	5	2	0	3	2	2	0	3	4	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:198721383C>T	uc001gur.1	+	29	3387	c.3207C>T	c.(3205-3207)atC>atT	p.I1069I	PTPRC_uc001gut.1_Silent_p.I908I	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	1069	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TCTAGGAAATCTGTGCTCAGT	0.388													T	198721383	C	T	198721383	2	4	3	1	0	0	0	0	0	0	0	1	12885	903	32	2		2	PTPRC	1	198721383	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	81168566	198721383	50529238	6	111											
NAV1	89796	broad.mit.edu	37	chr1	201750337	201750337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaactgaaaaagcccatCagcctgggccaccctggttc	11	6	11	13	0	1	2	1	1	0	1	2	3	1	2	4	3	3	1	4	3	3	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:201750337C>T	uc021phi.1	+	4	1910	c.1563C>T	c.(1561-1563)atC>atT	p.I521I	NAV1_uc001gwu.3_Silent_p.I521I|NAV1_uc001gwv.1_Silent_p.I29I|NAV1_uc001gww.2_Silent_p.I130I|NAV1_uc001gwx.3_Silent_p.I130I|NAV1_uc001gwy.1_5'Flank	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	521					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AAAAGCCCATCAGCCTGGGCC	0.577													T	201750337	C	T	201750337	2	4	3	1	0	0	0	0	0	0	0	1	10259	816	29	2		2	NAV1	1	201750337	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	3028954	201750337	47500284	7	112											
PCNXL2	80003	broad.mit.edu	37	chr1	233395011	233395011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcatgtgtgcttgagaCgcaggtaagctttccacttt	8	13	10	10	1	0	1	0	1	0	1	2	2	2	1	2	1	3	5	2	1	1	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:233395011C>T	uc001hvl.2	-	4	832	c.597G>A	c.(595-597)gcG>gcA	p.A199A	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	199						integral to membrane		p.A199G(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GTGCTTGAGACGCAGGTAAGC	0.448													T	233395011	C	T	233395011	2	4	3	1	0	0	0	0	0	0	0	1	11668	523	19	1		1	PCNXL2	1	233395011	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	31644674	233395011	15855610	8	113											
RYR2	6262	broad.mit.edu	37	chr1	237794836	237794836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtccttggaggtggagagTccaaggtaacgtctttgatt	9	12	13	7	2	1	2	0	1	1	1	3	4	3	3	2	4	1	1	2	4	2	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr1:237794836T>C	uc001hyl.1	+	41	6670	c.6550T>C	c.(6550-6552)Tcc>Ccc	p.S2184P		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2184	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGTGGAGAGTCCAAGGTAAC	0.393													C	237794836	T	C	237794836	3	2	3	1	0	0	0	0	1	0	0	0	13860	1667	58	3	6716	3	RYR2	1	237794836	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	4399825	237794836	11455785	9	114											
SPTBN1	6711	broad.mit.edu	37	chr2	54852086	54852086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgagcgaaaaccagcGtctggtgtctcaggttctgc	7	11	13	10	2	3	1	1	1	3	0	4	2	3	1	1	3	4	2	1	3	2	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:54852086G>A	uc002rxu.3	+	10	1577	c.1328G>A	c.(1327-1329)cGt>cAt	p.R443H	SPTBN1_uc002rxv.1_Missense_Mutation_p.R443H|SPTBN1_uc002rxx.3_Missense_Mutation_p.R430H	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	443					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAAACCAGCGTCTGGTGTCT	0.507													A	54852086	G	A	54852086	3	1	3	1	0	0	0	0	1	0	0	0	15215	1145	40	1	1479	1	SPTBN1	2	54852086	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		54852086	188347287	10	115											
BCL11A	53335	broad.mit.edu	37	chr2	60688379	60688379	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggcctcgctgaagtgCtgcatggagctgagcaccat	9	8	14	10	1	0	2	0	2	0	0	1	4	0	4	2	3	4	5	2	3	2	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:60688379C>G	uc002sae.1	-	3	1896	c.1668G>C	c.(1666-1668)caG>caC	p.Q556H	BCL11A_uc002sab.3_Missense_Mutation_p.Q556H|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.Q225H|BCL11A_uc010ypj.2_Missense_Mutation_p.Q522H|BCL11A_uc002sad.1_Missense_Mutation_p.Q404H|BCL11A_uc002saf.1_Missense_Mutation_p.Q522H	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	556					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CGCTGAAGTGCTGCATGGAGC	0.697			T	IGH@	B-CLL								G	60688379	C	G	60688379	3	3	3	1	0	0	0	0	1	0	0	0	1368	796	28	4	949	4	BCL11A	2	60688379	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	5836293	60688379	182510994	11	116											
SLC9A4	389015	broad.mit.edu	37	chr2	103095487	103095487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctacttcatgcccacccGgcccttctttgagaacatcg	7	10	8	16	3	2	1	1	1	1	1	3	2	2	1	3	2	3	1	3	2	2	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:103095487G>A	uc002tbz.4	+	1	903	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	149					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ATGCCCACCCGGCCCTTCTTT	0.597													A	103095487	G	A	103095487	3	1	3	1	0	0	0	0	1	0	0	0	14810	1116	39	1	452	1	SLC9A4	2	103095487	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	42407108	103095487	140103886	12	117											
IL1B	3553	broad.mit.edu	37	chr2	113588108	113588108	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttgttgaagacaaatcGcttttccatcttcttctttg	8	19	5	9	1	4	2	0	1	4	1	6	2	5	2	1	0	0	2	1	0	3	8			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:113588108G>A	uc002tii.1	-	6	727	c.640C>T	c.(640-642)Cga>Tga	p.R214*	IL1B_uc002tih.1_Nonsense_Mutation_p.R183*	NM_000576	NP_000567	P01584	IL1B_HUMAN	Homo sapiens interleukin 1, beta (IL1B), mRNA.	214					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	AAGACAAATCGCTTTTCCATC	0.423													A	113588108	G	A	113588108	4	1	3	1	0	0	0	0	0	1	0	0	7709	1095	38	1	173	1	IL1B	2	113588108	Nonsense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	10492621	113588108	129611265	13	118											
TUBA4A	7277	broad.mit.edu	37	chr2	220116339	220116339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatctccttgccaatggtaTagtgaccacgggcatagttg	9	12	11	9	1	1	2	0	2	1	0	2	2	1	2	3	2	1	3	3	2	4	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220116339T>C	uc002vkt.1	-	2	381	c.323A>G	c.(322-324)tAt>tGt	p.Y108C	TUBA4A_uc010zkz.1_Missense_Mutation_p.Y93C|TUBA4B_uc002vku.3_5'Flank|TUBA4B_uc002vkv.1_5'Flank	NM_006000	NP_005991	P68366	TBA4A_HUMAN	Homo sapiens tubulin, alpha 4a (TUBA4A), mRNA.	108					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAATGGTATAGTGACCACG	0.532													C	220116339	T	C	220116339	3	2	3	1	0	0	0	0	1	0	0	0	16851	1406	49	3	1031	3	TUBA4A	2	220116339	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	106528231	220116339	23083034	14	119											
DES	1674	broad.mit.edu	37	chr2	220286104	220286104	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgggaattggaggaccgaTttgccagtgaggccagtggc	8	8	17	8	2	0	1	0	1	0	0	0	5	0	4	3	5	2	0	3	5	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:220286104T>A	uc002vll.3	+	5	1152	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	356	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.F356I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		GGAGGACCGATTTGCCAGTGA	0.587													A	220286104	T	A	220286104	3	1	3	1	0	0	0	0	1	0	0	0	4488	1493	52	5	1088	5	DES	2	220286104	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	169765	220286104	22913269	15	120											
COL4A4	1286	broad.mit.edu	37	chr2	227886828	227886828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcctctcatgcctggCgccccaggaaggcctgggat	5	9	13	14	1	2	0	1	0	2	0	4	2	3	2	5	5	1	0	5	5	1	0	rs75398993	by1000genomes	TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr2:227886828C>T	uc021vxr.1	-	42	4253	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_uc021vxs.1_Silent_p.A1381A	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1384	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													T	227886828	C	T	227886828	2	4	3	1	0	0	0	0	0	0	0	1	3724	755	27	1		1	COL4A4	2	227886828	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	7600724	227886828	15312545	16	121											
ZNF385D	79750	broad.mit.edu	37	chr3	21462765	21462765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgggtccaggagctggccGcaggagtgccggaggaagcg	9	4	19	9	3	0	0	0	0	0	0	1	4	1	4	3	6	3	2	3	6	2	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:21462765G>A	uc003cce.3	-	7	1537	c.1129C>T	c.(1129-1131)Cgg>Tgg	p.R377W		NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	377						nucleus	nucleic acid binding|zinc ion binding	p.R377W(2)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GGAGCTGGCCGCAGGAGTGCC	0.532													A	21462765	G	A	21462765	3	1	3	1	0	0	0	0	1	0	0	0	17979	1086	38	1	62	1	ZNF385D	3	21462765	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		21462765	176559665	17	122											
PIK3CA	5290	broad.mit.edu	37	chr3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgcaacctacgtgaaTgtaaatattcgagacattga	13	13	8	7	2	0	3	0	2	0	1	1	4	0	3	1	0	3	2	1	0	6	6	rs121913284		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr3:178921553T>A	uc003fjk.3	+	4	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N345K(89)|p.V344G(5)|p.V344A(3)|p.N345I(3)|p.V344M(3)|p.N345D(2)|p.N345S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTACGTGAATGTAAATATTC	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921553	T	A	178921553	3	1	3	1	0	0	0	0	1	0	0	0	11990	1461	51	5	1049	5	PIK3CA	3	178921553	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	157458788	178921553	19100877	18	123											
PDGFRA	5156	broad.mit.edu	37	chr4	55152112	55152113	+	In_Frame_Ins	INS	-	-	TTT																															acatcatgcatgattcgaacINStatgtgtcgaaaggcagtgt																										TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:55152112_55152113insTTT	uc003han.4	+	17	2875_2876	c.2544_2545insTTT	c.(2542-2547)insTTT	p.848_849insF	PDGFRA_uc003haa.3_In_Frame_Ins_p.608_609insF	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	848	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.(814_854)?(57)|p.M844_S847del(9)|p.I843_S847>T(7)|p.Y849C(4)|p.H845_N848>P(3)|p.Y849D(2)|p.M844_S847>P(2)|p.Y849S(2)|p.N848K(2)|p.S847fs*1(1)|p.H845_N848del(1)|p.I843_S847>H(1)|p.D842_S847>EA(1)|p.I843_S847>L(1)|p.D842_S847>RV(1)|p.I843_S847>I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATGATTCGAACTATGTGTCGAA	0.495			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			TTT	55152113	-	TTT	55152112	7	5	3	1	0	1	1	0	0	0	0	0	11737	564	20	0	2610	0	PDGFRA	4	55152112	In_Frame_Ins	INS	-	TCGA-02-0047-01A-01D-1490-08		55152112	136002164	19	124											
EPHA5	2044	broad.mit.edu	37	chr4	66467624	66467624	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatgcaagcaccaacatcTtgaaaagcaagataaaatcc	19	6	6	10	0	1	2	0	1	1	1	2	2	2	2	2	0	4	4	2	0	8	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:66467624T>A	uc003hcy.3	-	2	838	c.645A>T	c.(643-645)caA>caT	p.Q215H	EPHA5_uc003hcx.3_Missense_Mutation_p.Q146H|EPHA5_uc003hcz.3_Missense_Mutation_p.Q215H|EPHA5_uc011cah.2_Missense_Mutation_p.Q215H|EPHA5_uc011cai.2_Missense_Mutation_p.Q215H|EPHA5_uc003hda.2_Missense_Mutation_p.Q215H	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	215					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACCAACATCTTGAAAAGCAA	0.428										TSP Lung(17;0.13)			A	66467624	T	A	66467624	3	1	3	1	0	0	0	0	1	0	0	0	5211	1606	56	5	2532	5	EPHA5	4	66467624	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	11315512	66467624	124686652	20	125											
FGA	2243	broad.mit.edu	37	chr4	155507575	155507575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttccagagctcccagAgttccagcttccagtacttc	8	11	7	15	0	0	2	0	0	0	2	6	2	5	2	5	0	3	5	5	0	1	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:155507575A>G	uc003iod.1	-	4	1064	c.1006T>C	c.(1006-1008)Tct>Cct	p.S336P	FGA_uc003ioe.1_Missense_Mutation_p.S336P|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	336					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GAGCTCCCAGAGTTCCAGCTT	0.567													G	155507575	A	G	155507575	3	3	3	1	0	0	0	0	1	0	0	0	5879	304	11	3	1646	3	FGA	4	155507575	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	89039951	155507575	35646701	21	126											
FBXO8	26269	broad.mit.edu	37	chr4	175180976	175180976	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaagtggatttgcacaaCctataaaatcagagaaaatg	17	8	7	9	0	1	1	1	0	0	1	1	3	1	2	3	1	2	1	3	1	7	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:175180976C>A	uc003itp.3	-	3	1180	c.330_splice	c.e3-1	p.G110_splice	FBXO8_uc003itq.3_Splice_Site_p.G69_splice	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	110	F-box.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		ATTTGCACAACCTATAAAATC	0.318													A	175180976	C	A	175180976	2	1	3	1	0	0	0	0	0	0	0	1	5810	521	18	4		4	FBXO8	4	175180976	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	19673401	175180976	15973300	22	127											
WWC2	80014	broad.mit.edu	37	chr4	184201980	184201980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagctgagttgttagctgtgGaacaagaattagcacaagaa	15	9	11	6	0	0	3	0	1	0	2	0	4	0	4	0	1	4	5	0	1	7	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr4:184201980G>C	uc010irx.3	+	16	2796	c.2614G>C	c.(2614-2616)Gaa>Caa	p.E872Q	WWC2_uc003ivk.4_Missense_Mutation_p.E667Q|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Missense_Mutation_p.E554Q|WWC2_uc003ivn.4_Missense_Mutation_p.E387Q|WWC2_uc010irz.3_Missense_Mutation_p.E189Q|WWC2_uc003ivo.4_5'Flank	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	872										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		GTTAGCTGTGgaacaagaatt	0.403													C	184201980	G	C	184201980	3	2	3	1	0	0	0	0	1	0	0	0	17514	1175	41	4	2680	4	WWC2	4	184201980	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	9021004	184201980	6952296	23	128											
GFM2	84340	broad.mit.edu	37	chr5	74028894	74028894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaaactgggatcttcacGctgaagacatttcaacgcat	12	12	7	10	2	4	2	3	1	1	1	4	3	4	3	0	1	2	2	0	1	3	3	rs139234343		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74028894G>A	uc010izj.1	-	16	1962	c.1636C>T	c.(1636-1638)Cgt>Tgt	p.R546C	GFM2_uc003kdh.1_Missense_Mutation_p.R514C|GFM2_uc003kdi.1_Missense_Mutation_p.R467C|GFM2_uc010izk.1_Non-coding_Transcript	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	514					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GGATCTTCACGCTGAAGACAT	0.348													A	74028894	G	A	74028894	3	1	3	1	0	0	0	0	1	0	0	0	6398	1087	38	1	823	1	GFM2	5	74028894	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		74028894	106886366	24	129											
GFM2	84340	broad.mit.edu	37	chr5	74041590	74041590	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggctttctctcaaagtcTtttccatcatttgaattgca	9	16	7	9	0	4	1	2	1	2	0	6	1	5	1	1	2	1	2	1	2	2	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:74041590T>C	uc010izj.1	-	10	1184	c.858A>G	c.(856-858)aaA>aaG	p.K286K	GFM2_uc003kdh.1_Silent_p.K254K|GFM2_uc003kdi.1_Silent_p.K254K|GFM2_uc010izk.1_Non-coding_Transcript|GFM2_uc003kdj.1_Silent_p.K254K|GFM2_uc010izl.1_Silent_p.K212K	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	254					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		TCTCAAAGTCTTTTCCATCAT	0.358													C	74041590	T	C	74041590	2	2	3	1	0	0	0	0	0	0	0	1	6398	1606	56	3		3	GFM2	5	74041590	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	12696	74041590	106873670	25	130											
PCDHGC5	9708	broad.mit.edu	37	chr5	140774103	140774103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacggttccactggcGtggagctggcgccccgctcc	5	6	13	17	4	0	1	0	0	0	1	2	2	2	2	5	4	1	3	5	4	0	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:140774103G>A	uc003lkd.2	+	0	2621	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V575M|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	577	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCACTGGCGTGGAGCTGGC	0.657													A	140774103	G	A	140774103	3	1	3	1	0	0	0	0	1	0	0	0	11647	1145	40	1		1	PCDHGC5	5	140774103	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	66732513	140774103	40141157	26	131											
ADAMTS2	9509	broad.mit.edu	37	chr5	178556976	178556976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcccatggtctgcagcGtctcccggccgtcctcgtct	2	9	14	16	4	3	0	0	0	3	0	6	0	4	0	4	4	2	1	4	4	0	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178556976G>A	uc003mjw.3	-	15	2516	c.2414C>T	c.(2413-2415)aCg>aTg	p.T805M		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	805	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTCTGCAGCGTCTCCCGGCC	0.607													A	178556976	G	A	178556976	3	1	3	1	0	0	0	0	1	0	0	0	265	1145	40	1	1249	1	ADAMTS2	5	178556976	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	37782873	178556976	2358284	27	132											
ADAMTS2	9509	broad.mit.edu	37	chr5	178585775	178585775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaggaagatggcgtgatCgtggtattcatcgtggcccg	7	11	16	7	4	1	3	1	2	0	1	3	4	1	4	1	4	0	1	1	4	2	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr5:178585775C>T	uc003mjw.3	-	5	1183	c.1081G>A	c.(1081-1083)Gat>Aat	p.D361N	ADAMTS2_uc011dgm.2_Missense_Mutation_p.D361N	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	361	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ATGGCGTGATCGTGGTATTCA	0.607													T	178585775	C	T	178585775	3	4	3	1	0	0	0	0	1	0	0	0	265	884	31	1	2697	1	ADAMTS2	5	178585775	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	28799	178585775	2329485	28	133											
TREML2	79865	broad.mit.edu	37	chr6	41162491	41162491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcatcagggcctgaggtagGggcttggccagttgtgacag	7	8	18	8	0	1	2	1	2	0	0	1	2	1	2	2	6	0	4	2	6	1	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:41162491G>A	uc010jxm.1	-	2	636	c.457C>T	c.(457-459)Cct>Tct	p.P153S		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	153					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTGAGGTAGGGGCTTGGCCA	0.542													A	41162491	G	A	41162491	3	1	3	1	0	0	0	0	1	0	0	0	16574	1232	43	2	520	2	TREML2	6	41162491	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		41162491	129952576	29	134											
DEFB110	245913	broad.mit.edu	37	chr6	49976918	49976918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcaacatcatcacaaaacGttttacatattcctctcact	14	13	1	13	1	4	0	4	0	1	0	6	0	5	0	1	0	3	1	1	0	5	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:49976918G>T	uc011dwr.2	-	1	168	c.122C>A	c.(121-123)aCg>aAg	p.T41K		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.	44					defense response to bacterium	extracellular region				endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					ATCACAAAACGTTTTACATAT	0.333													T	49976918	G	T	49976918	3	4	3	1	0	0	0	0	1	0	0	0	4438	1145	40	4	68	4	DEFB110	6	49976918	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	8814427	49976918	121138149	30	135											
FAM83B	222584	broad.mit.edu	37	chr6	54791195	54791195	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttagtgatggatatattTacagatgtggacattttcaa	12	16	9	4	0	1	2	1	1	0	1	1	4	1	4	0	2	1	1	0	2	5	8			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:54791195T>C	uc003pck.3	+	2	587	c.471T>C	c.(469-471)ttT>ttC	p.F157F		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	157										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGGATATATTTACAGATGTGG	0.299													C	54791195	T	C	54791195	2	2	3	1	0	0	0	0	0	0	0	1	5684	1751	61	3		3	FAM83B	6	54791195	Silent	SNP	T	TCGA-02-0047-01A-01D-1490-08	4814277	54791195	116323872	31	136											
LAMA2	3908	broad.mit.edu	37	chr6	129371087	129371087	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccctgctgtcctgaatcTtgcttctaatgctcttatca	7	17	5	12	0	4	1	1	1	3	0	6	1	6	1	2	0	3	3	2	0	3	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:129371087T>A	uc021zfb.1	+	1	242	c.137T>A	c.(136-138)cTt>cAt	p.L46H	LAMA2_uc003qbn.3_Missense_Mutation_p.L46H|LAMA2_uc003qbo.3_Missense_Mutation_p.L46H	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	46	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GTCCTGAATCTTGCTTCTAAT	0.403													A	129371087	T	A	129371087	3	1	3	1	0	0	0	0	1	0	0	0	8665	1609	56	5	143	5	LAMA2	6	129371087	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	74579892	129371087	41743980	32	137											
SASH1	23328	broad.mit.edu	37	chr6	148865365	148865365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatcgcagcctctggtcGcggcctgtcaccccctcagt	5	9	9	18	3	4	0	3	0	1	0	6	0	4	0	4	2	1	1	4	2	1	0	rs145411864		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:148865365G>A	uc003qme.1	+	17	3234	c.2759G>A	c.(2758-2760)cGc>cAc	p.R920H	SASH1_uc011eeb.1_Missense_Mutation_p.R681H|SASH1_uc003qmf.1_Missense_Mutation_p.R330H	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	920							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCCTCTGGTCGCGGCCTGTCA	0.517													A	148865365	G	A	148865365	3	1	3	1	0	0	0	0	1	0	0	0	13940	1087	38	1	2829	1	SASH1	6	148865365	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	19494278	148865365	22249702	33	138											
PLEKHG1	57480	broad.mit.edu	37	chr6	151152163	151152163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacagccccaaaacagaagGgcaggaggagatgactccct	15	3	12	11	0	0	3	0	1	0	2	1	6	1	4	3	3	3	1	3	3	4	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:151152163G>A	uc011eem.1	+	14	2181	c.2093G>A	c.(2092-2094)gGg>gAg	p.G698E	PLEKHG1_uc011eel.1_Missense_Mutation_p.G679E|PLEKHG1_uc003qny.1_Missense_Mutation_p.G639E|PLEKHG1_uc003qnz.2_Missense_Mutation_p.G639E	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	639					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		AAAACAGAAGGGCAGGAGGAG	0.478													A	151152163	G	A	151152163	3	1	3	1	0	0	0	0	1	0	0	0	12145	1232	43	2	1970	2	PLEKHG1	6	151152163	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	2286798	151152163	19962904	34	139											
PLG	5340	broad.mit.edu	37	chr6	161173177	161173177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctggccttctcaaggaagCccagctccctgtgattgaga	9	9	11	12	0	1	2	1	2	1	1	3	4	2	3	3	2	3	2	3	2	2	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr6:161173177C>T	uc003qtm.4	+	17	2268	c.2156C>T	c.(2155-2157)gCc>gTc	p.A719V		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	719	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTCAAGGAAGCCCAGCTCCCT	0.468													T	161173177	C	T	161173177	3	4	3	1	0	0	0	0	1	0	0	0	12163	739	26	2	2230	2	PLG	6	161173177	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	10021014	161173177	9941890	35	140											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758263	99758263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggattgagggtttgggctCgagggccagcaccagaaggc	8	7	18	8	1	0	2	0	1	0	1	1	4	0	3	2	5	1	3	2	5	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:99758263C>T	uc003utt.3	-	2	1766	c.749G>A	c.(748-750)cGa>cAa	p.R250Q	C7orf43_uc011kjj.2_5'Flank|C7orf43_uc003utr.3_5'Flank|C7orf43_uc003uts.3_5'Flank|GAL3ST4_uc022aii.1_Missense_Mutation_p.R188Q|GAL3ST4_uc003utu.3_Missense_Mutation_p.R250Q	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	250					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTTTGGGCTCGAGGGCCAGC	0.567													T	99758263	C	T	99758263	3	4	3	1	0	0	0	0	1	0	0	0	6254	884	31	1	715	1	GAL3ST4	7	99758263	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		99758263	59380400	36	141											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	3	1	0	0	0	0	1	0	0	0	1505	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08	40694873	140453136	18685527	37	142											
ASAH1	427	broad.mit.edu	37	chr8	17916969	17916969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctaccctgcttagcatCgagtctagatacaaaaggag	13	9	8	11	1	2	1	0	0	2	1	3	3	2	2	2	1	4	2	2	1	6	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:17916969C>T	uc003wyn.2	-	11	1167	c.970G>A	c.(970-972)Gat>Aat	p.D324N	ASAH1_uc003wyl.2_Missense_Mutation_p.D308N|ASAH1_uc003wym.2_Missense_Mutation_p.D283N|ASAH1_uc003wyo.2_Missense_Mutation_p.D302N	NM_004315	NP_004306	Q13510	ASAH1_HUMAN	Homo sapiens N-acylsphingosine amidohydrolase (acid ceramidase) 1 (ASAH1), transcript variant 2, mRNA.	308					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TGCTTAGCATCGAGTCTAGAT	0.398													T	17916969	C	T	17916969	3	4	3	1	0	0	0	0	1	0	0	0	1011	884	31	1	277	1	ASAH1	8	17916969	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		17916969	128447053	38	143											
DNAJC5B	85479	broad.mit.edu	37	chr8	66963845	66963845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacaggagaagctctataCgaaattcttggtctgcataa	15	10	8	8	1	3	1	0	0	3	1	3	3	3	1	0	2	4	2	0	2	6	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:66963845C>T	uc003xvs.1	+	2	354	c.63C>T	c.(61-63)taC>taT	p.Y21Y	DNAJC5B_uc003xvt.1_Non-coding_Transcript	NM_033105	NP_149096	Q9UF47	DNJ5B_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 5 beta (DNAJC5B), mRNA.	21	J.				protein folding	membrane	heat shock protein binding|unfolded protein binding			endometrium(3)|large_intestine(6)|liver(1)|lung(6)|prostate(1)|skin(3)	20		Lung NSC(129;0.114)|all_lung(136;0.188)	Epithelial(68;0.0213)|all cancers(69;0.0839)|BRCA - Breast invasive adenocarcinoma(89;0.0886)|OV - Ovarian serous cystadenocarcinoma(28;0.112)			AAGCTCTATACGAAATTCTTG	0.398													T	66963845	C	T	66963845	2	4	3	1	0	0	0	0	0	0	0	1	4690	547	19	1		1	DNAJC5B	8	66963845	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	49046876	66963845	79400177	39	144											
RNF19A	25897	broad.mit.edu	37	chr8	101273881	101273881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctcggatggctcctattCgatccatgtggcttccactt	5	15	9	12	2	1	0	0	0	1	0	6	2	4	1	3	3	0	2	3	3	1	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr8:101273881C>T	uc003yjj.1	-	8	1888	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q	RNF19A_uc003yjk.1_Missense_Mutation_p.R524Q	NM_015435	NP_904355	Q9NV58	RN19A_HUMAN	Homo sapiens ring finger protein 19A (RNF19A), transcript variant 2, mRNA.	524					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GGCTCCTATTCGATCCATGTG	0.532													T	101273881	C	T	101273881	3	4	3	1	0	0	0	0	1	0	0	0	13561	884	31	1	957	1	RNF19A	8	101273881	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	34310036	101273881	45090141	40	145											
GPR158	57512	broad.mit.edu	37	chr10	25886887	25886887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggacaaggagggcgccGaccatggcacagccaaaggc	14	1	15	11	2	0	1	0	0	0	1	0	4	0	3	3	5	1	1	3	5	3	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886887G>T	uc001isj.3	+	10	2392	c.2332G>T	c.(2332-2334)Gac>Tac	p.D778Y	GPR158_uc001isk.3_Missense_Mutation_p.D153Y	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	778						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GGAGGGCGCCGACCATGGCAC	0.567													T	25886887	G	T	25886887	3	4	3	1	0	0	0	0	1	0	0	0	6717	1058	37	4	2374	4	GPR158	10	25886887	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		25886887	109647860	41	146			1	1		2	2	19	G		4.709688e-05
GPR158	57512	broad.mit.edu	37	chr10	25886905	25886905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccatggcacagccaaaGgcactgccctcatcaggaag	12	4	10	15	1	2	0	2	0	0	0	2	2	2	1	4	3	2	2	4	3	2	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:25886905G>C	uc001isj.3	+	10	2410	c.2350G>C	c.(2350-2352)Ggc>Cgc	p.G784R	GPR158_uc001isk.3_Missense_Mutation_p.G159R	NM_020752	NP_065803	Q5T848	GP158_HUMAN	Homo sapiens G protein-coupled receptor 158 (GPR158), mRNA.	784						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CACAGCCAAAGGCACTGCCCT	0.547													C	25886905	G	C	25886905	3	2	3	1	0	0	0	0	1	0	0	0	6717	1000	35	4	2392	4	GPR158	10	25886905	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	18	25886905	109647842	42	147			1	1		2	2	19	G		4.709688e-05
MYO3A	53904	broad.mit.edu	37	chr10	26446423	26446423	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggattctcccatcggatacTttttgctaactttataaagc	11	15	6	9	1	1	0	0	0	1	0	3	2	1	2	1	2	4	1	1	2	5	8			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:26446423T>A	uc001isn.2	+	25	3338	c.2978T>A	c.(2977-2979)cTt>cAt	p.L993H	MYO3A_uc009xko.1_Missense_Mutation_p.L993H|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	993	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCGGATACTTTTTGCTAAC	0.333													A	26446423	T	A	26446423	3	1	3	1	0	0	0	0	1	0	0	0	10152	1609	56	5	3072	5	MYO3A	10	26446423	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	559518	26446423	109088324	43	148											
CXCL12	6387	broad.mit.edu	37	chr10	44876321	44876321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgtagctcaggctgacGggcttccctagaagaggtaa	10	9	12	10	1	2	3	1	1	1	2	3	3	3	3	1	3	1	5	1	3	4	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr10:44876321G>A	uc001jbf.3	-	1	161	c.69C>T	c.(67-69)ccC>ccT	p.P23P	CXCL12_uc001jbh.3_Silent_p.P23P|CXCL12_uc021ppm.1_Silent_p.P23P|CXCL12_uc001jbi.3_Silent_p.P23P	NM_000609	NP_000600	P48061	SDF1_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 12 (CXCL12), transcript variant 2, mRNA.	23					blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	p.P23P(4)		endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Dexamethasone(DB01234)	TCAGGCTGACGGGCTTCCCTA	0.507													A	44876321	G	A	44876321	2	1	3	1	0	0	0	0	0	0	0	1	4113	1103	39	1		1	CXCL12	10	44876321	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	18429898	44876321	90658426	44	149											
OR52I2	143502	broad.mit.edu	37	chr11	4609074	4609074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgatgcatgtcctctttgaCcattccaacctgggttcatg	7	14	8	12	0	2	2	1	2	1	0	4	2	4	2	4	1	2	2	4	1	1	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:4609074C>A	uc010qyh.2	+	0	1054	c.1032C>A	c.(1030-1032)gaC>gaA	p.D344E		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	344					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCTCTTTGACCATTCCAACC	0.453													A	4609074	C	A	4609074	3	1	3	1	0	0	0	0	1	0	0	0	11197	506	18	4	1034	4	OR52I2	11	4609074	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		4609074	130397442	45	150											
TEAD1	7003	broad.mit.edu	37	chr11	12946585	12946585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctttgggaagcaagtaGtagaaaaagtagaggtaagt	15	9	13	4	0	0	2	0	0	0	2	1	3	1	3	1	2	1	6	1	2	8	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:12946585G>A	uc021qdx.1	+	10	1620	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TEAD1_uc001mkk.4_Missense_Mutation_p.V238I|TEAD1_uc009ygl.3_Missense_Mutation_p.V155I	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	334	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GAAGCAAGTAGTAGAAAAAGT	0.438													A	12946585	G	A	12946585	3	1	3	1	0	0	0	0	1	0	0	0	15838	1029	36	2	1034	2	TEAD1	11	12946585	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	8337511	12946585	122059931	46	151											
OR5M3	219482	broad.mit.edu	37	chr11	56237516	56237516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgttgctgccagactcGtcagaaaaccataaatgtaa	16	10	7	8	1	1	2	1	0	0	2	2	2	1	2	2	0	3	3	2	0	6	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:56237516G>A	uc010rjk.2	-	0	499	c.458C>T	c.(457-459)aCg>aTg	p.T153M	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGCCAGACTCGTCAGAAAACC	0.413													A	56237516	G	A	56237516	3	1	3	1	0	0	0	0	1	0	0	0	11251	1145	40	1	467	1	OR5M3	11	56237516	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	43290931	56237516	78769000	47	152											
SCYL1	57410	broad.mit.edu	37	chr11	65303487	65303487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccgtttgcaccgtccCgggttgcgggtgtcctgggc	2	9	17	13	4	0	0	0	0	0	0	2	1	2	1	4	4	2	3	4	4	0	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:65303487C>T	uc001oea.1	+	10	1527	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	SCYL1_uc009yqk.3_Missense_Mutation_p.R484W|SCYL1_uc001oeb.1_Missense_Mutation_p.R484W|SCYL1_uc001oec.1_Missense_Mutation_p.R484W|SCYL1_uc001oee.1_Missense_Mutation_p.R128W	NM_020680	NP_065731	Q96KG9	NTKL_HUMAN	Homo sapiens SCY1-like 1 (S. cerevisiae) (SCYL1), transcript variant A, mRNA.	484					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TGCACCGTCCCGGGTTGCGGG	0.597													T	65303487	C	T	65303487	3	4	3	1	0	0	0	0	1	0	0	0	14040	643	23	1	1492	1	SCYL1	11	65303487	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	9065971	65303487	69703029	48	153											
FAT3	120114	broad.mit.edu	37	chr11	92568240	92568240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacgccttggtgggagactCtgtcattttggtaggtacct	7	13	13	8	1	2	2	1	0	1	2	2	3	2	2	2	4	1	2	2	4	2	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:92568240C>T	uc001pdj.4	+	13	10093	c.10076C>T	c.(10075-10077)tCt>tTt	p.S3359F		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3359	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GTGGGAGACTCTGTCATTTTG	0.468										TCGA Ovarian(4;0.039)			T	92568240	C	T	92568240	3	4	3	1	0	0	0	0	1	0	0	0	5740	913	32	2	10130	2	FAT3	11	92568240	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	27264753	92568240	42438276	49	154											
EXPH5	23086	broad.mit.edu	37	chr11	108380635	108380635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtttttgtcccgctgcGataagcccaactttcatttc	7	15	6	13	2	1	0	1	0	0	0	3	1	2	0	3	0	3	2	3	0	2	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:108380635G>A	uc001pkk.3	-	5	5710	c.5599C>T	c.(5599-5601)Cgc>Tgc	p.R1867C	EXPH5_uc010rvz.2_Missense_Mutation_p.R1711C|EXPH5_uc010rvy.2_Missense_Mutation_p.R1679C	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1867					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GTCCCGCTGCGATAAGCCCAA	0.428													A	108380635	G	A	108380635	3	1	3	1	0	0	0	0	1	0	0	0	5364	1058	37	1	374	1	EXPH5	11	108380635	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	15812395	108380635	26625881	50	155											
DDX6	1656	broad.mit.edu	37	chr11	118626197	118626197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacagcttgtatatcaataCctcgggtaaacagatcttaa	14	12	6	9	1	3	1	2	0	1	1	4	1	3	1	1	1	3	3	1	1	7	6			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr11:118626197C>T	uc001pub.2	-	11	1551	c.1190G>A	c.(1189-1191)gGt>gAt	p.G397D	DDX6_uc001pua.2_Missense_Mutation_p.G97D|DDX6_uc001puc.2_Missense_Mutation_p.G397D	NM_004397	NP_004388	P26196	DDX6_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 6 (DDX6), mRNA.	397	Helicase C-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity	p.G386V(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		TATATCAATACCTCGGGTAAA	0.323			T	IGH@	B-NHL								T	118626197	C	T	118626197	3	4	3	1	0	0	0	0	1	0	0	0	4411	507	18	2	269	2	DDX6	11	118626197	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	10245562	118626197	16380319	51	156											
B4GALNT3	283358	broad.mit.edu	37	chr12	662979	662979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtacctgtgtttgacccGgtagtaaactgggaccagac	10	10	11	10	2	0	2	0	1	0	1	0	3	0	3	3	2	3	4	3	2	5	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:662979G>A	uc001qii.1	+	13	1890	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	B4GALNT3_uc001qij.1_Silent_p.P533P|B4GALNT3_uc001qik.1_Silent_p.P179P	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	630						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGTTTGACCCGGTAGTAAACT	0.547													A	662979	G	A	662979	2	1	3	1	0	0	0	0	0	0	0	1	1273	1103	39	1		1	B4GALNT3	12	662979	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08		662979	133188916	52	157											
CLSTN3	9746	broad.mit.edu	37	chr12	7294683	7294683	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttatccccagaGgagaagaacaaagagaagga	15	12	9	5	0	0	4	0	0	0	4	1	7	1	5	2	2	1	0	2	2	5	6			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:7294683G>A	uc001qss.3	+	9	2061	c.1523_splice	c.e9-1	p.E508_splice	CLSTN3_uc001qsr.3_Splice_Site_p.E496_splice	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	496					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TATCCCCAGAGGAGAAGAACA	0.453											OREG0021650	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7294683	G	A	7294683	2	1	3	1	0	0	0	0	0	0	0	1	3594	1014	35	2		2	CLSTN3	12	7294683	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	6631704	7294683	126557212	53	158											
RIMKLB	57494	broad.mit.edu	37	chr12	8926145	8926162	+	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	CTGGCCGGCTCACCCGGC	-																															tgccgcctcccttctaccctCtggccggctcacccggcgta																								rs34259191		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:8926145_8926162delCTGGCCGGCTCACCCGGC	uc001qux.2	+	6	2188_2205	c.926_943delCTGGCCGGCTCACCCGGC	c.(925-945)tctggccggctcacccggcgt>tgt	p.309_315SGRLTRR>C	RIMKLB_uc009zgf.2_Intron|RIMKLB_uc010sgl.1_In_Frame_Del_p.309_315SGRLTRR>C|RIMKLB_uc001quw.2_Intron	NM_020734	NP_065785	Q9ULI2	RIMKB_HUMAN	Homo sapiens ribosomal modification protein rimK-like family member B (RIMKLB), mRNA.	309					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.R314W(2)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CTTCTACCCTCTGGCCGGCTCACCCGGCGTATGTCCCT	0.55													-	8926162	CTGGCCGGCTCACCCGGC	-	8926145	7	5	3	1	0	1	0	1	0	0	0	0	13457	913	32	0	944	0	RIMKLB	12	8926145	In_Frame_Del	DEL	CTGGCCGGCTCACCCGGC	TCGA-02-0047-01A-01D-1490-08	1631462	8926145	124925750	54	159											
BCL2L14	79370	broad.mit.edu	37	chr12	12247837	12247837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaagagaacttctcGccatggatccagcagcacgg	12	7	10	12	2	1	2	0	1	1	1	3	4	2	3	3	2	4	2	3	2	3	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12247837G>A	uc001rac.3	+	4	1119	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Intron|BCL2L14_uc001rad.3_Silent_p.S306S|BCL2L14_uc001rae.3_3'UTR	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	306					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding			large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		AGAACTTCTCGCCATGGATCC	0.448													A	12247837	G	A	12247837	2	1	3	1	0	0	0	0	0	0	0	1	1377	1074	38	1		1	BCL2L14	12	12247837	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	3321692	12247837	121604058	55	160											
LRP6	4040	broad.mit.edu	37	chr12	12274335	12274335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggggtgcaaagtgccGgtagctatatggcctgtagc	7	9	18	7	1	0	0	0	0	0	0	0	0	0	0	2	6	4	4	2	6	5	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr12:12274335G>A	uc001rah.4	-	22	4709	c.4567C>T	c.(4567-4569)Cgg>Tgg	p.R1523W	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.R1478W	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	1523					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GCAAAGTGCCGGTAGCTATAT	0.458													A	12274335	G	A	12274335	3	1	3	1	0	0	0	0	1	0	0	0	9032	1115	39	1	278	1	LRP6	12	12274335	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	26498	12274335	121577560	56	161											
TPTE2	93492	broad.mit.edu	37	chr13	20041405	20041405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaatgtcaaaaaaaatgtAaatgacatcaaccagcagag	20	8	6	7	0	2	2	2	1	0	1	2	2	2	2	1	0	2	2	1	0	8	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:20041405A>C	uc001umd.3	-	7	683	c.472T>G	c.(472-474)Tac>Gac	p.Y158D	TPTE2_uc009zzk.3_Intron|TPTE2_uc009zzl.3_Intron|TPTE2_uc001ume.3_Intron|TPTE2_uc009zzm.3_Intron|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	158						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAAAAAATGTAAATGACATCA	0.294													C	20041405	A	C	20041405	3	2	3	1	0	0	0	0	1	0	0	0	16532	362	13	5	1152	5	TPTE2	13	20041405	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		20041405	95128473	57	162											
PABPC3	5042	broad.mit.edu	37	chr13	25671552	25671552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggttacttcatgacaGctgtcccacagactcagaac	11	10	7	13	0	3	3	3	1	0	2	4	3	4	3	1	1	3	2	1	1	2	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:25671552G>A	uc001upy.3	+	0	1277	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	406					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTTCATGACAGCTGTCCCACA	0.532													A	25671552	G	A	25671552	3	1	3	1	0	0	0	0	1	0	0	0	11441	971	34	2	1218	2	PABPC3	13	25671552	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	5630147	25671552	89498326	58	163											
DIS3	22894	broad.mit.edu	37	chr13	73336102	73336102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtgtatattggagacgcTaagccatagtgatgaaaatc	13	12	11	5	1	0	3	0	2	0	1	1	4	0	3	1	1	1	2	1	1	6	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr13:73336102T>A	uc001vix.4	-	16	2675	c.2301A>T	c.(2299-2301)ttA>ttT	p.L767F	DIS3_uc001viy.4_Missense_Mutation_p.L737F|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	767					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		TTGGAGACGCTAAGCCATAGT	0.328										Multiple Myeloma(4;0.011)			A	73336102	T	A	73336102	3	1	3	1	0	0	0	0	1	0	0	0	4574	1519	53	5	595	5	DIS3	13	73336102	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	47664550	73336102	41833776	59	164											
GPR132	29933	broad.mit.edu	37	chr14	105518226	105518226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcgcagagtgccaggCagagcaggtagacggccagc	10	3	16	12	2	0	3	0	0	0	3	1	3	0	3	2	3	4	6	2	3	1	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr14:105518226C>T	uc001yqd.3	-	3	1147	c.248G>A	c.(247-249)tGc>tAc	p.C83Y	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.C74Y	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	83					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAGTGCCAGGCAGAGCAGGTA	0.662													T	105518226	C	T	105518226	3	4	3	1	0	0	0	0	1	0	0	0	6696	710	25	2	898	2	GPR132	14	105518226	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		105518226	1831314	60	165											
RYR3	6263	broad.mit.edu	37	chr15	34047281	34047281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggggtatgaaggatatGgagctggatgcctcctccat	9	10	14	8	1	0	1	0	1	0	0	2	4	2	4	3	5	2	3	3	5	4	3			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:34047281G>A	uc001zhi.3	+	57	8485	c.8415G>A	c.(8413-8415)atG>atA	p.M2805I	RYR3_uc010bar.3_Missense_Mutation_p.M2805I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2805	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGAAGGATATGGAGCTGGATG	0.458													A	34047281	G	A	34047281	3	1	3	1	0	0	0	0	1	0	0	0	13861	1348	47	2	8645	2	RYR3	15	34047281	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		34047281	68484111	61	166											
BUB1B	701	broad.mit.edu	37	chr15	40512942	40512942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaagttaactagtcctggGgctttgctctttcagtgagc	7	13	13	8	0	2	1	1	1	1	0	3	2	3	2	1	3	3	3	1	3	3	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:40512942G>A	uc001zkx.4	+	22	3347	c.3135G>A	c.(3133-3135)ggG>ggA	p.G1045G	PAK6_uc010bbl.3_Intron|PAK6_uc010bbm.3_Intron	NM_001211	NP_001202	O60566	BUB1B_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog beta (yeast) (BUB1B), mRNA.	1045	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		CTAGTCCTGGGGCTTTGCTCT	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				A	40512942	G	A	40512942	2	1	3	1	0	0	0	0	0	0	0	1	1581	1219	43	2		2	BUB1B	15	40512942	Silent	SNP	G	TCGA-02-0047-01A-01D-1490-08	6465661	40512942	62018450	62	167											
ZNF280D	54816	broad.mit.edu	37	chr15	56993158	56993158	+	Frame_Shift_Del	DEL	A	A	-																															gaaaaaggctgaacaataacAgaactatctgaagatctaga																										TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:56993158delA	uc002adu.3	-	5	571	c.354delT	c.(352-354)tctfs	p.S118fs	ZNF280D_uc002adv.3_Frame_Shift_Del_p.S105fs|ZNF280D_uc010bfq.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adw.1_Frame_Shift_Del_p.S146fs|ZNF280D_uc010bfr.1_Non-coding_Transcript|ZNF280D_uc002ady.3_Frame_Shift_Del_p.S118fs|ZNF280D_uc002adx.3_Frame_Shift_Del_p.S118fs	NM_017661	NP_001002843	Q6N043	Z280D_HUMAN	Homo sapiens zinc finger protein 280D (ZNF280D), transcript variant 1, mRNA.	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GAACAATAACAGAACTATCTG	0.393													-	56993158	A	-	56993158	7	5	3	1	0	1	0	1	0	0	0	0	17918	175	7	0	2749	0	ZNF280D	15	56993158	Frame_Shift_Del	DEL	A	TCGA-02-0047-01A-01D-1490-08	16480216	56993158	45538234	63	168											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059831	79059831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggtggctccagggcgcTctgctcatccagccccacgc	4	6	14	17	3	2	0	1	0	1	0	4	0	4	0	4	4	2	3	4	4	0	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr15:79059831T>G	uc002bej.4	-	17	2960	c.2749A>C	c.(2749-2751)Agc>Cgc	p.S917R	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	917	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGGGCGCTCTGCTCATCC	0.701													G	79059831	T	G	79059831	3	3	3	1	0	0	0	0	1	0	0	0	271	1551	54	5	2339	5	ADAMTS7	15	79059831	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	22066673	79059831	23471561	64	169											
C16orf91	283951	broad.mit.edu	37	chr16	1478504	1478504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatttcctgccgcccgCgcctttcaggacagaacaca	8	8	9	16	3	1	1	1	0	0	1	2	2	2	2	5	2	2	0	5	2	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:1478504C>T	uc010uvd.2	-	1	147	c.147G>A	c.(145-147)gcG>gcA	p.A49A		NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	0						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						CTGCCGCCCGCGCCTTTCAGG	0.677													T	1478504	C	T	1478504	2	4	3	1	0	0	0	0	0	0	0	1	1858	755	27	1		1	C16orf91	16	1478504	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08		1478504	88876249	65	170											
CREBBP	1387	broad.mit.edu	37	chr16	3843446	3843446	+	Frame_Shift_Del	DEL	C	C	-																															tcaaaacgtttttcatggttCgacaatgcgggagcgagcag																										TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr16:3843446delC	uc002cvv.3	-	3	1361	c.1157delG	c.(1156-1158)cgafs	p.R386fs	CREBBP_uc002cvw.3_Frame_Shift_Del_p.R386fs	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	386	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.T387fs*5(1)|p.R386*(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTTCATGGTTCGACAATGCGG	0.507			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						-	3843446	C	-	3843446	7	5	3	1	0	1	0	1	0	0	0	0	3892	884	31	0	6283	0	CREBBP	16	3843446	Frame_Shift_Del	DEL	C	TCGA-02-0047-01A-01D-1490-08	2364942	3843446	86511307	66	171											
ABR	29	broad.mit.edu	37	chr17	953842	953842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgctgacaaaatagcCgaaggaatccacctccaggg	12	7	11	11	1	0	1	0	1	0	0	2	3	2	2	4	3	2	2	4	3	5	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:953842C>T	uc002fsd.3	-	14	1704	c.1594G>A	c.(1594-1596)Ggc>Agc	p.G532S	ABR_uc002fse.3_Missense_Mutation_p.G486S|ABR_uc010vqg.2_Missense_Mutation_p.G314S|ABR_uc002fsg.3_Missense_Mutation_p.G495S|ABR_uc002fsh.1_Intron	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	532	C2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		ACAAAATAGCCGAAGGAATCC	0.617													T	953842	C	T	953842	3	4	3	1	0	0	0	0	1	0	0	0	99	652	23	1	1021	1	ABR	17	953842	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		953842	80241368	67	172											
SPACA3	124912	broad.mit.edu	37	chr17	31322643	31322643	+	Frame_Shift_Del	DEL	C	C	-																															gctcagctgcctgctaccctCcagtgaggccaagctctacg																										TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:31322643delC	uc002hhs.1	+	1	326	c.251delC	c.(250-252)tccfs	p.S84fs	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	84					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTGCTACCCTCCAGTGAGGCC	0.607													-	31322643	C	-	31322643	7	5	3	1	0	1	0	1	0	0	0	0	15067	855	30	0	257	0	SPACA3	17	31322643	Frame_Shift_Del	DEL	C	TCGA-02-0047-01A-01D-1490-08	30368801	31322643	49872567	68	173											
GSDMA	284110	broad.mit.edu	37	chr17	38122551	38122551	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttggctttaagaatatgCtggacacccgagtggaggga	11	11	13	6	1	0	1	0	0	0	1	0	5	0	4	1	4	1	2	1	4	3	5			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:38122551C>T	uc002htl.1	+	2	371	c.253C>T	c.(253-255)Ctg>Ttg	p.L85L	GSDMA_uc002htm.1_Silent_p.L85L	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	85					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						TAAGAATATGCTGGACACCCG	0.537													T	38122551	C	T	38122551	2	4	3	1	0	0	0	0	0	0	0	1	6871	796	28	2		2	GSDMA	17	38122551	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	6799908	38122551	43072659	69	174											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368		TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:39673185C>T	uc002hwy.3	-	2	804	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_uc002hwz.3_Missense_Mutation_p.V107I|KRT15_uc002hxa.3_Missense_Mutation_p.V40I|KRT15_uc002hxb.1_Missense_Mutation_p.V40I	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(6)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													T	39673185	C	T	39673185	3	4	3	1	0	0	0	0	1	0	0	0	8510	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	1550634	39673185	41522025	70	175											
ARSG	22901	broad.mit.edu	37	chr17	66391258	66391258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtagccctggcccaggccaGcttacctcaaggacggcgct	7	6	13	15	2	1	0	1	0	0	0	1	1	1	1	4	5	3	3	4	5	3	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr17:66391258G>A	uc002jhc.2	+	9	1932	c.1136G>A	c.(1135-1137)aGc>aAc	p.S379N	TRNA_Und_uc021uce.1_5'Flank	NM_014960	NP_055775	Q96EG1	ARSG_HUMAN	Homo sapiens arylsulfatase G (ARSG), mRNA.	379					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			GCCCAGGCCAGCTTACCTCAA	0.587													A	66391258	G	A	66391258	3	1	3	1	0	0	0	0	1	0	0	0	997	971	34	2	1170	2	ARSG	17	66391258	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	26718073	66391258	14803952	71	176											
NEDD4L	23327	broad.mit.edu	37	chr18	56010160	56010160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggactcacccgtacGtcgggctgtgaaagacaccc	10	6	11	14	3	1	2	1	1	0	1	2	3	1	3	3	2	2	2	3	2	3	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr18:56010160G>A	uc002lgy.3	+	15	1683	c.1400G>A	c.(1399-1401)cGt>cAt	p.R467H	NEDD4L_uc002lgz.3_Missense_Mutation_p.R403H|NEDD4L_uc002lgx.3_Missense_Mutation_p.R447H|NEDD4L_uc010xee.1_Missense_Mutation_p.R346H|NEDD4L_uc002lhc.2_Missense_Mutation_p.R459H|NEDD4L_uc002lhd.2_Missense_Mutation_p.R346H|NEDD4L_uc002lhb.2_Missense_Mutation_p.R326H|NEDD4L_uc002lhe.2_Missense_Mutation_p.R439H|NEDD4L_uc002lhf.3_Missense_Mutation_p.R326H|NEDD4L_uc002lhg.3_Missense_Mutation_p.R346H|NEDD4L_uc002lhh.2_Missense_Mutation_p.R242H|NEDD4L_uc010dpm.1_Intron	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	467					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TCACCCGTACGTCGGGCTGTG	0.488													A	56010160	G	A	56010160	3	1	3	1	0	0	0	0	1	0	0	0	10387	1145	40	1	1490	1	NEDD4L	18	56010160	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		56010160	22067088	72	177											
HMG20B	10362	broad.mit.edu	37	chr19	3578077	3578077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacgagaagctcatcGtccgcatcaaggaaatcctg	12	6	9	14	3	2	1	2	0	0	1	5	3	4	2	3	1	2	3	3	1	3	0			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:3578077G>A	uc002lya.3	+	8	975	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	HMG20B_uc002lyb.3_Missense_Mutation_p.V201I	NM_006339	NP_006330	Q9P0W2	HM20B_HUMAN	Homo sapiens high mobility group 20B (HMG20B), mRNA.	303					blood coagulation|cell cycle|chromatin modification	chromosome|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGCTCATCGTCCGCATCAA	0.701													A	3578077	G	A	3578077	3	1	3	1	0	0	0	0	1	0	0	0	7277	1145	40	1	937	1	HMG20B	19	3578077	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08		3578077	55550906	73	178											
SAFB	6294	broad.mit.edu	37	chr19	5668177	5668177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatttgttcctaggcgcGgcagctttgccccaggcggg	5	10	15	11	3	0	1	0	1	0	0	1	1	1	1	3	4	2	3	3	4	2	4			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr19:5668177G>A	uc002mcg.3	+	20	2800	c.2629G>A	c.(2629-2631)Ggc>Agc	p.G877S	SAFB_uc002mcf.3_Missense_Mutation_p.G875S|SAFB_uc002mce.4_Missense_Mutation_p.G876S|SAFB_uc010xis.2_Missense_Mutation_p.G808S|SAFB_uc010xit.2_Missense_Mutation_p.G719S|SAFB_uc010xir.2_Missense_Mutation_p.G874S|SAFB_uc010xiu.2_Missense_Mutation_p.G676S	NM_001201338	NP_001188267	Q15424	SAFB1_HUMAN	Homo sapiens scaffold attachment factor B (SAFB), transcript variant 1, mRNA.	875	Gly-rich.|Interaction with SAFB2.				chromatin organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		TCCTAGGCGCGGCAGCTTTGC	0.677													A	5668177	G	A	5668177	3	1	3	1	0	0	0	0	1	0	0	0	13897	1116	39	1	2705	1	SAFB	19	5668177	Missense_Mutation	SNP	G	TCGA-02-0047-01A-01D-1490-08	2090100	5668177	53460806	74	179											
BTBD3	22903	broad.mit.edu	37	chr20	11899075	11899075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccaccagtttgttatgAaataattaccttgaagacta	13	14	7	7	0	0	3	0	2	0	1	0	3	0	3	3	0	2	3	3	0	6	7			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:11899075A>G	uc002wnz.3	+	0	511	c.152A>G	c.(151-153)gAa>gGa	p.E51G	BTBD3_uc002wny.3_5'UTR|BTBD3_uc002woa.3_5'UTR|BTBD3_uc010zrf.2_5'UTR|BTBD3_uc010zrg.2_5'Flank|BTBD3_uc010zrh.2_5'Flank	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	51								p.E51K(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GTTTGTTATGAAATAATTACC	0.458													G	11899075	A	G	11899075	3	3	3	1	0	0	0	0	1	0	0	0	1554	246	9	3	154	3	BTBD3	20	11899075	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		11899075	51126445	75	180											
RPRD1B	58490	broad.mit.edu	37	chr20	36676850	36676850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacagcagctgaagctgTctatggaggactccaagagc	12	8	11	10	0	2	2	1	1	1	1	3	4	3	4	1	2	5	3	1	2	4	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr20:36676850T>C	uc002xho.4	+	2	784	c.382T>C	c.(382-384)Tct>Cct	p.S128P		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	128	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						GCTGAAGCTGTCTATGGAGGA	0.453													C	36676850	T	C	36676850	3	2	3	1	0	0	0	0	1	0	0	0	13707	1667	58	3	392	3	RPRD1B	20	36676850	Missense_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08	24777775	36676850	26348670	76	181											
DNAJC28	54943	broad.mit.edu	37	chr21	34860697	34860697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtatattttctgggctctgAcaatttctttctgagcatca	8	17	7	9	1	5	2	1	2	4	0	5	2	5	2	0	1	1	3	0	1	3	6			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr21:34860697A>G	uc021wim.1	-	0	1004	c.1004T>C	c.(1003-1005)gTc>gCc	p.V335A	DNAJC28_uc002yrv.3_Missense_Mutation_p.V335A|DNAJC28_uc002yrw.3_Missense_Mutation_p.V335A	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	335				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGGCTCTGACAATTTCTTT	0.343													G	34860697	A	G	34860697	3	3	3	1	0	0	0	0	1	0	0	0	4685	275	10	3	166	3	DNAJC28	21	34860697	Missense_Mutation	SNP	A	TCGA-02-0047-01A-01D-1490-08		34860697	13269198	77	182											
SOX10	6663	broad.mit.edu	37	chr22	38369502	38369502	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggcgacagggccccctTtagggccgggacagtgtcgt	5	8	17	11	3	0	0	0	0	0	0	1	2	0	1	3	5	0	0	3	5	1	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:38369502T>G	uc003aun.1	-	3	1679	c.1401A>C	c.(1399-1401)taA>taC	p.*467Y	AK098727_uc003aum.3_Intron|SOX10_uc003auo.1_Nonstop_Mutation_p.*467Y	NM_006941	NP_008872	P56693	SOX10_HUMAN	Homo sapiens SRY (sex determining region Y)-box 10 (SOX10), mRNA.	0						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					AGGGCCCCCTTTAGGGCCGGG	0.692													G	38369502	T	G	38369502	4	3	3	1	0	0	0	0	0	0	0	0	15035	1848	64	5	3	5	SOX10	22	38369502	Nonstop_Mutation	SNP	T	TCGA-02-0047-01A-01D-1490-08		38369502	12935064	78	183											
CELSR1	9620	broad.mit.edu	37	chr22	46807508	46807508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggatgctcacttcttggagCcggtctgagtgccctgggca	5	10	15	11	1	3	1	1	1	2	0	3	3	3	3	2	4	3	2	2	4	0	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:46807508C>T	uc003bhw.1	-	5	4760	c.4760G>A	c.(4759-4761)gGc>gAc	p.G1587D	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1587	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTTCTTGGAGCCGGTCTGAGT	0.632													T	46807508	C	T	46807508	3	4	3	1	0	0	0	0	1	0	0	0	3251	739	26	2	4404	2	CELSR1	22	46807508	Missense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08	8438006	46807508	4497058	79	184											
PLXNB2	23654	broad.mit.edu	37	chr22	50719359	50719359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcacggggatgccggcCtcgtgcacgtcgttggtctg	4	9	15	13	5	1	0	0	0	1	0	4	1	2	1	3	4	3	3	3	4	0	1			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chr22:50719359C>T	uc003bkv.4	-	23	3900	c.3807G>A	c.(3805-3807)gaG>gaA	p.E1269E	PLXNB2_uc003bkt.1_Silent_p.E61E|PLXNB2_uc003bku.1_Silent_p.E254E	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1269					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGATGCCGGCCTCGTGCACGT	0.652													T	50719359	C	T	50719359	2	4	3	1	0	0	0	0	0	0	0	1	12201	680	24	2		2	PLXNB2	22	50719359	Silent	SNP	C	TCGA-02-0047-01A-01D-1490-08	3911851	50719359	585207	80	185											
USP9X	8239	broad.mit.edu	37	chrX	41075440	41075440	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgctcgtacacagtggtCaagcgagtggggggcattat	8	10	16	7	2	1	0	1	0	0	0	2	1	1	0	0	4	3	3	0	4	3	2			TCGA-02-0047-01A-01D-1490-08	TCGA-02-0047-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce03026e-b756-43a2-972d-b3a4dcda5491	12cccbae-0ffc-43ee-8aa5-7ec47611b497	g.chrX:41075440C>T	uc004dfb.3	+	34	6253	c.5620C>T	c.(5620-5622)Caa>Taa	p.Q1874*	USP9X_uc004dfc.3_Nonsense_Mutation_p.Q1874*	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1874					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACACAGTGGTCAAGCGAGTGG	0.443													T	41075440	C	T	41075440	4	4	3	1	0	0	0	0	0	1	0	0	17192	827	29	2	5754	2	USP9X	23	41075440	Nonsense_Mutation	SNP	C	TCGA-02-0047-01A-01D-1490-08		41075440	114195120	81	186											
GJB3	2707	broad.mit.edu	37	chr1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcttcaatatgccgcGcctggtgcagtgtgccaacg	7	9	13	12	3	1	0	1	0	0	0	1	0	1	0	3	2	4	3	3	2	3	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:35250842G>A	uc001bxz.4	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	160					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R160H(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552													A	35250842	G	A	35250842	3	1	4	1	0	0	0	0	1	0	0	0	6465	1087	38	1	481	1	GJB3	1	35250842	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		35250842	213999779	1	187											
C8B	732	broad.mit.edu	37	chr1	57395177	57395177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgtcttgtcttacgtcttCcagagcatgaagaccaattt	9	16	7	9	1	3	3	0	1	3	2	4	3	4	3	2	0	2	1	2	0	3	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:57395177C>T	uc001cyp.3	-	11	1743	c.1676G>A	c.(1675-1677)gGa>gAa	p.G559E	C8B_uc010oon.2_Missense_Mutation_p.G497E|C8B_uc010ooo.2_Missense_Mutation_p.G507E	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	559	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CTTACGTCTTCCAGAGCATGA	0.448													T	57395177	C	T	57395177	3	4	4	1	0	0	0	0	1	0	0	0	2441	855	30	2	103	2	C8B	1	57395177	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	22144335	57395177	191855444	2	188											
HOOK1	51361	broad.mit.edu	37	chr1	60294482	60294482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttaacgaatcttggttAagccgaattaaagaggatgt	13	13	11	4	2	1	1	0	0	1	1	1	4	1	2	1	3	2	2	1	3	6	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:60294482A>T	uc009wad.3	+	3	282	c.180A>T	c.(178-180)ttA>ttT	p.L60F	HOOK1_uc001czo.3_Missense_Mutation_p.L60F|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.L18F	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	60	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATCTTGGTTAAGCCGAATTA	0.348													T	60294482	A	T	60294482	3	4	4	1	0	0	0	0	1	0	0	0	7337	359	13	5	190	5	HOOK1	1	60294482	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	2899305	60294482	188956139	3	189											
COL11A1	1301	broad.mit.edu	37	chr1	103453212	103453212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcctgcttgacctgaagGacctgggtctccagttgggc	5	12	12	12	0	2	2	0	2	2	0	4	3	2	3	4	3	1	2	4	3	1	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:103453212G>A	uc001dum.3	-	29	2833	c.2515C>T	c.(2515-2517)Cct>Tct	p.P839S	COL11A1_uc001duk.3_Silent_p.V17V|COL11A1_uc001dul.3_Missense_Mutation_p.P827S|COL11A1_uc001dun.3_Missense_Mutation_p.P788S|COL11A1_uc009weh.3_Missense_Mutation_p.P711S	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	827	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.P839S(2)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TGACCTGAAGGACCTGGGTCT	0.453													A	103453212	G	A	103453212	3	1	4	1	0	0	0	0	1	0	0	0	3698	1174	41	2	3093	2	COL11A1	1	103453212	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	43158730	103453212	145797409	4	190											
PYHIN1	149628	broad.mit.edu	37	chr1	158912123	158912123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagagcaaagaaaattccGaagatcaatattcttcacaa	20	8	6	7	1	3	4	2	0	1	4	4	5	4	4	1	0	1	1	1	0	8	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:158912123G>A	uc001ftb.3	+	4	1186	c.936G>A	c.(934-936)ccG>ccA	p.P312P	PYHIN1_uc001ftc.3_Silent_p.P303P|PYHIN1_uc001ftd.3_Silent_p.P312P|PYHIN1_uc001fte.3_Silent_p.P303P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	312	HIN-200.				cell cycle	nuclear speck		p.P312L(1)		breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGAAAATTCCGAAGATCAATA	0.378													A	158912123	G	A	158912123	2	1	4	1	0	0	0	0	0	0	0	1	12953	1045	37	1		1	PYHIN1	1	158912123	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	55458911	158912123	90338498	5	191											
RASAL2	9462	broad.mit.edu	37	chr1	178425898	178425898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccctcgtgttcttgctGatattaccaagtcattgact	7	16	6	12	1	3	2	1	2	2	0	5	2	3	2	2	0	2	2	2	0	3	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:178425898G>T	uc001glq.3	+	12	3018	c.2254G>T	c.(2254-2256)Gat>Tat	p.D752Y	RASAL2_uc001glr.3_Missense_Mutation_p.D611Y|RASAL2_uc009wxc.3_Missense_Mutation_p.D125Y	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	611					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGTTCTTGCTGATATTACCAA	0.468													T	178425898	G	T	178425898	3	4	4	1	0	0	0	0	1	0	0	0	13152	1290	45	4	2342	4	RASAL2	1	178425898	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	19513775	178425898	70824723	6	192											
STX6	10228	broad.mit.edu	37	chr1	180971810	180971810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagttgcatcaaggttaaAttttctaggatttgcttcaa	11	17	7	6	0	4	0	3	0	1	0	4	1	4	1	0	2	2	4	0	2	5	8			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:180971810A>G	uc021pfr.1	-	2	469	c.232T>C	c.(232-234)Ttt>Ctt	p.F78L	STX6_uc010pnr.2_Intron	NM_005819	NP_005810	O43752	STX6_HUMAN	Homo sapiens syntaxin 6 (STX6), mRNA.	78					Golgi vesicle transport|intracellular protein transport|vesicle fusion	clathrin-coated vesicle|early endosome|integral to membrane|perinuclear region of cytoplasm|plasma membrane|trans-Golgi network membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	10						TCAAGGTTAAATTTTCTAGGA	0.353													G	180971810	A	G	180971810	3	3	4	1	0	0	0	0	1	0	0	0	15445	101	4	3	559	3	STX6	1	180971810	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	2545912	180971810	68278811	7	193											
CENPF	1063	broad.mit.edu	37	chr1	214787153	214787153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctacaagagctcttcagaAaattcaagagcttgaaggac	15	8	9	9	0	3	4	2	1	1	3	3	5	3	5	1	1	3	2	1	1	6	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:214787153A>G	uc001hkm.3	+	1	230	c.56A>G	c.(55-57)aAa>aGa	p.K19R		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	19	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.K19R(2)|p.Q18*(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GCTCTTCAGAAAATTCAAGAG	0.428													G	214787153	A	G	214787153	3	3	4	1	0	0	0	0	1	0	0	0	3261	14	1	3	58	3	CENPF	1	214787153	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	33815343	214787153	34463468	8	194											
OBSCN	84033	broad.mit.edu	37	chr1	228504460	228504460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgcggcggtccgggccGgcgcacaggcatgcttcacc	8	4	14	15	6	1	0	1	0	0	0	2	0	2	0	3	5	2	3	3	5	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:228504460G>A	uc009xez.1	+	50	13380	c.13336G>A	c.(13336-13338)Ggc>Agc	p.G4446S	OBSCN_uc001hsn.3_Missense_Mutation_p.G4446S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4446	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCCGGGCCGGCGCACAGGC	0.672													A	228504460	G	A	228504460	3	1	4	1	0	0	0	0	1	0	0	0	10888	1116	39	1	13534	1	OBSCN	1	228504460	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	13717307	228504460	20746161	9	195											
OR2L13	284521	broad.mit.edu	37	chr1	248263034	248263034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgacctccatggcctaCgaccgttatttggccatctg	6	12	8	15	2	1	1	0	1	1	0	3	2	3	1	6	2	1	1	6	2	2	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr1:248263034C>T	uc001ids.3	+	2	694	c.357C>T	c.(355-357)taC>taT	p.Y119Y	OR2L13_uc021pmc.1_Silent_p.Y119Y	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.Y119Y(3)|p.A118E(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			CCATGGCCTACGACCGTTATT	0.512													T	248263034	C	T	248263034	2	4	4	1	0	0	0	0	0	0	0	1	11082	547	19	1		1	OR2L13	1	248263034	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	19758574	248263034	987587	10	196											
IL1RN	3557	broad.mit.edu	37	chr2	113890330	113890330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccaccagttttgagtctgCcgcctgccccggttggttcc	4	11	10	16	2	1	1	0	1	1	0	2	1	2	1	7	2	2	3	7	2	0	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:113890330C>A	uc002tjb.3	+	3	480	c.416C>A	c.(415-417)gCc>gAc	p.A139D	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.A142D|IL1RN_uc002tiy.3_Missense_Mutation_p.A105D|IL1RN_uc002tja.3_Missense_Mutation_p.A121D	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	139					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TTTGAGTCTGCCGCCTGCCCC	0.572									Lichen Sclerosis et Atrophicus, Familial Clustering of				A	113890330	C	A	113890330	3	1	4	1	0	0	0	0	1	0	0	0	7723	739	26	4	511	4	IL1RN	2	113890330	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		113890330	129309043	11	197											
PPIG	9360	broad.mit.edu	37	chr2	170494029	170494029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aacagatgaagacaaaagcgGatgagtgagttatataaact	19	8	10	4	1	0	5	0	3	0	2	0	6	0	6	0	1	3	1	0	1	8	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:170494029G>C	uc002uez.3	+	13	2481	c.2261G>C	c.(2260-2262)gGa>gCa	p.G754A	PPIG_uc010fpx.3_Missense_Mutation_p.G739A|PPIG_uc010fpy.3_Missense_Mutation_p.G747A|PPIG_uc002ufb.3_Missense_Mutation_p.G754A|PPIG_uc002ufd.3_Missense_Mutation_p.G751A	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	754					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	GACAAAAGCGGATGAGTGAGT	0.313													C	170494029	G	C	170494029	3	2	4	1	0	0	0	0	1	0	0	0	12406	1174	41	4	2307	4	PPIG	2	170494029	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	56603699	170494029	72705344	12	198											
TTN	7273	broad.mit.edu	37	chr2	179412263	179412263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttaatttgagtgcgctTgacactggaattgacaagct	11	13	10	7	1	0	3	0	3	0	0	0	5	0	4	0	1	2	2	0	1	3	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:179412263T>C	uc021vsy.1	-	287	86611	c.86386A>G	c.(86386-86388)Aag>Gag	p.K28796E	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K22491E|TTN_uc021vta.1_Missense_Mutation_p.K22424E|TTN_uc021vtb.1_Missense_Mutation_p.K22299E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29723	Fibronectin type-III 110.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGTGCGCTTGACACTGGAA	0.413													C	179412263	T	C	179412263	3	2	4	1	0	0	0	0	1	0	0	0	16837	1821	63	3	13985	3	TTN	2	179412263	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	8918234	179412263	63787110	13	199											
COL6A3	1293	broad.mit.edu	37	chr2	238275663	238275663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttacccgcaggtgctcaaGgcccaccttagtgttggcgt	6	11	12	12	2	1	0	1	0	0	0	1	0	1	0	3	3	2	4	3	3	3	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr2:238275663G>A	uc002vwl.2	-	10	5452	c.5167C>T	c.(5167-5169)Ctt>Ttt	p.L1723F	COL6A3_uc002vwo.2_Missense_Mutation_p.L1517F|COL6A3_uc010znj.1_Missense_Mutation_p.L1116F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1723	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.L1723I(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGGTGCTCAAGGCCCACCTTA	0.547													A	238275663	G	A	238275663	3	1	4	1	0	0	0	0	1	0	0	0	3732	1000	35	2	4502	2	COL6A3	2	238275663	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	58863400	238275663	4923710	14	200											
ITPR1	3708	broad.mit.edu	37	chr3	4816936	4816936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaattgcagaacttcctccGttgccaaaataacaagacca	15	8	5	13	1	0	2	0	0	0	2	2	2	2	2	5	0	4	2	5	0	6	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:4816936G>A	uc003bqc.3	+	45	6295	c.5945G>A	c.(5944-5946)cGt>cAt	p.R1982H	ITPR1_uc021wsi.1_Missense_Mutation_p.R1949H|ITPR1_uc021wsj.1_Missense_Mutation_p.R1934H|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	1997					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding	p.L1982L(1)		NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACTTCCTCCGTTGCCAAAAT	0.483													A	4816936	G	A	4816936	3	1	4	1	0	0	0	0	1	0	0	0	7978	1145	40	1	6168	1	ITPR1	3	4816936	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		4816936	193205494	15	201											
FGD5	152273	broad.mit.edu	37	chr3	14905722	14905722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagagcagagaagctcGgaggaggaggacagtgcttc	13	5	17	6	1	0	3	0	1	0	2	2	9	0	7	0	4	3	3	0	4	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr3:14905722G>A	uc003bzc.3	+	1	2723	c.2613G>A	c.(2611-2613)tcG>tcA	p.S871S	FGD5_uc011avk.2_Silent_p.S871S	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	871					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAGAAGCTCGGAGGAGGAGG	0.597													A	14905722	G	A	14905722	2	1	4	1	0	0	0	0	0	0	0	1	5885	1103	39	1		1	FGD5	3	14905722	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	10088786	14905722	183116708	16	202											
CTBP1	1487	broad.mit.edu	37	chr4	1209830	1209830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttgtgctcgttgaggccGcagtgcagggtcacgcagtc	5	10	16	10	3	1	1	1	1	0	0	3	1	1	1	1	3	2	6	1	3	0	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:1209830G>A	uc003gcw.3	-	4	876	c.711C>T	c.(709-711)tgC>tgT	p.C237C	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.C226C|CTBP1_uc003gcv.1_Silent_p.C237C	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	237					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CGTTGAGGCCGCAGTGCAGGG	0.637													A	1209830	G	A	1209830	2	1	4	1	0	0	0	0	0	0	0	1	4030	1079	38	1		1	CTBP1	4	1209830	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08		1209830	189944446	17	203											
HGFAC	3083	broad.mit.edu	37	chr4	3449235	3449235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccccccagggacagcGtctccgtggtgctgggccag	6	5	14	16	2	1	0	0	0	1	0	2	1	1	1	5	3	3	1	5	3	0	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3449235G>A	uc003ghc.3	+	10	1375	c.1372G>A	c.(1372-1374)Gtc>Atc	p.V458I	HGFAC_uc010icw.3_Missense_Mutation_p.V465I	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	458	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CAGGGACAGCGTCTCCGTGGT	0.667													A	3449235	G	A	3449235	3	1	4	1	0	0	0	0	1	0	0	0	7141	1145	40	1	1414	1	HGFAC	4	3449235	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	2239405	3449235	187705041	18	204											
ADRA2C	152	broad.mit.edu	37	chr4	3769412	3769412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagttcttcctgtcgcgccGgcgccgggcgcgcagcagcg	3	6	16	16	9	1	0	0	0	1	0	3	1	2	0	3	2	2	3	3	2	0	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:3769412G>A	uc003ghm.3	+	0	1117	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	360					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity	p.R360Q(2)|p.R360L(2)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CTGTCGCGCCGGCGCCGGGCG	0.746													A	3769412	G	A	3769412	3	1	4	1	0	0	0	0	1	0	0	0	339	1116	39	1	1081	1	ADRA2C	4	3769412	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	320177	3769412	187384864	19	205											
AFM	173	broad.mit.edu	37	chr4	74354406	74354406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaaggagcttatttctcTtgtagaagatgtttcttcca	10	18	7	6	0	2	2	0	0	2	2	4	3	3	3	1	1	1	3	1	1	4	8	rs139224995	byFrequency	TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:74354406T>C	uc003hhb.3	+	6	804	c.773T>C	c.(772-774)cTt>cCt	p.L258P		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	258	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTATTTCTCTTGTAGAAGAT	0.353													C	74354406	T	C	74354406	3	2	4	1	0	0	0	0	1	0	0	0	361	1609	56	3	799	3	AFM	4	74354406	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	70584994	74354406	116799870	20	206											
FAT4	79633	broad.mit.edu	37	chr4	126373451	126373451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgaagagaacaatagaacGtttcttttggcagctgtgaa	14	12	10	5	1	1	4	0	2	1	2	1	5	1	4	0	1	3	3	0	1	7	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:126373451G>A	uc003ifj.4	+	8	11280	c.11280G>A	c.(11278-11280)acG>acA	p.T3760T	FAT4_uc011cgp.2_Silent_p.T2058T|FAT4_uc003ifi.1_Silent_p.T1238T	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3760					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACAATAGAACGTTTCTTTTGG	0.453													A	126373451	G	A	126373451	2	1	4	1	0	0	0	0	0	0	0	1	5741	1132	40	1		1	FAT4	4	126373451	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	52019045	126373451	64780825	21	207											
ENPP6	133121	broad.mit.edu	37	chr4	185074883	185074883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggacttcacaatggCggcctatgtcaatgagaaca	12	10	10	9	1	3	2	2	2	1	1	3	4	3	3	1	3	1	0	1	3	4	2	rs142786439		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr4:185074883C>T	uc003iwc.3	-	1	387	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	82					lipid catabolic process	extracellular region|integral to membrane|plasma membrane		p.R82H(2)|p.R82C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		TTCACAATGGCGGCCTATGTC	0.453													T	185074883	C	T	185074883	3	4	4	1	0	0	0	0	1	0	0	0	5175	768	27	1	1105	1	ENPP6	4	185074883	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	58701432	185074883	6079393	22	208											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163558	163558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacagagaagaagctccCgctgtggcagcatgccagga	12	4	13	12	1	0	2	0	0	0	2	1	4	1	3	3	2	4	4	3	2	2	0	rs148435989		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:163558C>T	uc003jak.2	+	10	2353	c.2303C>T	c.(2302-2304)cCg>cTg	p.P768L		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAAGCTCCCGCTGTGGCAG	0.652													T	163558	C	T	163558	3	4	4	1	0	0	0	0	1	0	0	0	12149	652	23	1	2345	1	PLEKHG4B	5	163558	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		163558	180751702	23	209											
IPO11	51194	broad.mit.edu	37	chr5	61887491	61887491	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagatcctgaaacaggaacTtataaagagtaggtgcatta	17	9	10	5	0	0	3	0	1	0	2	1	5	1	4	1	2	3	2	1	2	8	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:61887491T>A	uc011cqr.2	+	27	2920	c.2790T>A	c.(2788-2790)acT>acA	p.T930T	IPO11_uc003jtc.3_Silent_p.T890T|IPO11_uc003jte.3_Silent_p.T9T	NM_001134779	NP_057422	Q9UI26	IPO11_HUMAN	Homo sapiens importin 11 (IPO11), transcript variant 1, mRNA.	890						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		AAACAGGAACTTATAAAGAGT	0.338													A	61887491	T	A	61887491	2	1	4	1	0	0	0	0	0	0	0	1	7851	1596	56	5		5	IPO11	5	61887491	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	61723933	61887491	119027769	24	210											
SLC27A6	28965	broad.mit.edu	37	chr5	128301930	128301930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggatgacttctggttcGtgttgaaggtggtgctcatt	5	17	14	5	1	2	2	1	2	1	0	3	3	2	3	0	4	1	3	0	4	1	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:128301930G>A	uc003kuy.3	+	1	496	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	SLC27A6_uc003kuz.3_Missense_Mutation_p.V34M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	34					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CTTCTGGTTCGTGTTGAAGGT	0.463													A	128301930	G	A	128301930	3	1	4	1	0	0	0	0	1	0	0	0	14624	1145	40	1	102	1	SLC27A6	5	128301930	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	66414439	128301930	52613330	25	211											
PCDHGC5	56114	broad.mit.edu	37	chr5	140712400	140712400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctggcgcacaggctgCggcgctggcacaagtcacgt	6	7	15	13	4	1	0	1	0	0	0	1	0	1	0	0	4	3	6	0	4	1	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:140712400C>T	uc003lji.2	+	0	2149	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R717W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	718					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C716*(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGGCTGCGGCGCTGGCA	0.657													T	140712400	C	T	140712400	3	4	4	1	0	0	0	0	1	0	0	0	11647	759	27	1		1	PCDHGC5	5	140712400	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	12410470	140712400	40202860	26	212											
FAM153C	653316	broad.mit.edu	37	chr5	177466410	177466410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttgggagttccacaacGtggtacgtattggggaaccc	9	10	12	10	2	0	0	0	0	0	0	2	2	2	2	3	4	3	3	3	4	4	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr5:177466410G>A	uc011dge.2	+	5	338	c.131G>A	c.(130-132)cGt>cAt	p.R44H						Homo sapiens family with sequence similarity 153, member C (FAM153C), non-coding RNA.											kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	all_cancers(89;0.00176)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTCCACAACGTGGTACGTAT	0.478													A	177466410	G	A	177466410	3	1	4	1	0	0	0	0	1	0	0	0	5507	1145	40	1	145	1	FAM153C	5	177466410	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	36754010	177466410	3448850	27	213											
ZC3H12D	340152	broad.mit.edu	37	chr6	149795611	149795611	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcgcccagcttgcccaaCacccggagcacatcctcccg	7	5	7	22	3	0	0	0	0	0	0	3	1	2	1	6	1	4	2	6	1	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr6:149795611C>A	uc010kid.3	-	1	339	c.69G>T	c.(67-69)gtG>gtT	p.V23V	ZC3H12D_uc003qmn.1_Silent_p.V23V	NM_207360	NP_997243	A2A288	ZC12D_HUMAN	Homo sapiens zinc finger CCCH-type containing 12D (ZC3H12D), mRNA.	23						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GCTTGCCCAACACCCGGAGCA	0.677													A	149795611	C	A	149795611	2	1	4	1	0	0	0	0	0	0	0	1	17665	465	17	4		4	ZC3H12D	6	149795611	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		149795611	21319456	28	214											
CYCS	54205	broad.mit.edu	37	chr7	25163649	25163649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagaccatggagatttggCccagtcttgtgcttgcctcc	8	11	11	11	0	1	2	0	0	1	2	2	4	2	2	4	2	2	1	4	2	1	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:25163649C>T	uc003sxl.3	-	1	260	c.90G>A	c.(88-90)ggG>ggA	p.G30G		NM_018947	NP_061820	P99999	CYC_HUMAN	Homo sapiens cytochrome c, somatic (CYCS), nuclear gene encoding mitochondrial protein, mRNA.	30					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	GGAGATTTGGCCCAGTCTTGT	0.443													T	25163649	C	T	25163649	2	4	4	1	0	0	0	0	0	0	0	1	4169	726	26	2		2	CYCS	7	25163649	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		25163649	133975014	29	215											
JHDM1D	80853	broad.mit.edu	37	chr7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaactccaagattcataaCgtgccaaattttcatctgtt	13	14	5	9	1	3	2	2	1	1	1	4	2	4	2	2	0	3	1	2	0	4	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:139824534C>T	uc003vvm.3	-	6	942	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	313	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358													T	139824534	C	T	139824534	3	4	4	1	0	0	0	0	1	0	0	0	8006	536	19	1	1943	1	JHDM1D	7	139824534	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	114660885	139824534	19314129	30	216											
OR2A2	442361	broad.mit.edu	37	chr7	143807248	143807248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggcctgtgctgacacCtgggttaaccaagtggtcat	9	10	12	10	0	1	1	1	1	0	0	1	1	1	1	3	3	3	3	3	3	3	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr7:143807248C>T	uc011ktz.2	+	0	573	c.573C>T	c.(571-573)acC>acT	p.T191T		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	191					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GTGCTGACACCTGGGTTAACC	0.512													T	143807248	C	T	143807248	2	4	4	1	0	0	0	0	0	0	0	1	11053	668	24	2		2	OR2A2	7	143807248	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	3982714	143807248	15331415	31	217											
PLAG1	5324	broad.mit.edu	37	chr8	57079222	57079222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgccaccttgtaactcCatcaggtaactctcaatttc	10	11	6	14	1	2	0	2	0	1	0	5	0	3	0	3	2	2	3	3	2	3	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:57079222C>T	uc003xsq.4	-	2	1534	c.1083G>A	c.(1081-1083)atG>atA	p.M361I	PLAG1_uc003xsr.4_Missense_Mutation_p.M361I|PLAG1_uc010lyi.3_Missense_Mutation_p.M361I|PLAG1_uc010lyj.3_Missense_Mutation_p.M279I|PLAG1_uc022aur.1_Missense_Mutation_p.M279I	NM_001114635	NP_001108107	Q6DJT9	PLAG1_HUMAN	Homo sapiens pleiomorphic adenoma gene 1 (PLAG1), transcript variant 3, mRNA.	361	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.M361I(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			CTTGTAACTCCATCAGGTAAC	0.438			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								T	57079222	C	T	57079222	3	4	4	1	0	0	0	0	1	0	0	0	12095	594	21	2	423	2	PLAG1	8	57079222	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		57079222	89284800	32	218											
MATN2	4147	broad.mit.edu	37	chr8	99044505	99044505	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatggaagacaggactcTccagcaggggaactgccaaa	13	5	12	11	1	1	1	0	0	1	1	3	5	2	4	3	4	3	1	3	4	3	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr8:99044505T>C	uc003yic.3	+	15	2772	c.2541T>C	c.(2539-2541)tcT>tcC	p.S847S	MATN2_uc010mbh.1_Silent_p.S806S|MATN2_uc003yid.3_Silent_p.S847S|MATN2_uc003yie.1_Silent_p.S847S|MATN2_uc010mbi.1_Silent_p.S680S|RPL30_uc010mbk.2_Intron	NM_002380	NP_002371	O00339	MATN2_HUMAN	Homo sapiens matrilin 2 (MATN2), transcript variant 1, mRNA.	847						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGGACTCTCCAGCAGGGG	0.473													C	99044505	T	C	99044505	2	2	4	1	0	0	0	0	0	0	0	1	9409	1538	54	3		3	MATN2	8	99044505	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	41965283	99044505	47319517	33	219											
ARMC3	219681	broad.mit.edu	37	chr10	23250972	23250972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatgctaagagacaatcaaGgattggaccatcttattaag	16	10	8	7	0	2	1	1	0	1	1	2	4	2	3	1	2	1	1	1	2	6	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:23250972G>A	uc001irm.4	+	6	780	c.697G>A	c.(697-699)Gga>Aga	p.G233R	ARMC3_uc010qcv.2_Missense_Mutation_p.G233R|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	233							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGACAATCAAGGATTGGACCA	0.358													A	23250972	G	A	23250972	3	1	4	1	0	0	0	0	1	0	0	0	957	1001	35	2	719	2	ARMC3	10	23250972	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		23250972	112283775	34	220											
ZNF248	57209	broad.mit.edu	37	chr10	38126948	38126948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctataattttccaggatcAcatctctgtatagaatcttc	11	16	5	9	0	3	1	1	0	2	1	6	2	4	2	1	1	1	2	1	1	5	7			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:38126948A>G	uc001izd.1	-	3	606	c.107T>C	c.(106-108)gTg>gCg	p.V36A	ZNF248_uc009xmc.2_Missense_Mutation_p.V36A|ZNF248_uc001izb.3_Non-coding_Transcript|ZNF248_uc001izc.3_Missense_Mutation_p.V36A|ZNF248_uc010qeu.1_Missense_Mutation_p.V36A	NM_021045	NP_066383	Q8NDW4	ZN248_HUMAN	Homo sapiens zinc finger protein 248 (ZNF248), mRNA.	36	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|urinary_tract(1)	20						TTCCAGGATCACATCTCTGTA	0.413													G	38126948	A	G	38126948	3	3	4	1	0	0	0	0	1	0	0	0	17894	159	6	3	1644	3	ZNF248	10	38126948	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	14875976	38126948	97407799	35	221											
PTEN	5728	broad.mit.edu	37	chr10	89692907	89692907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaagctggaaagggacgaActggtgtaatgatatgtgca	14	9	14	4	1	0	1	0	1	0	0	0	4	0	3	0	3	3	4	0	3	6	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr10:89692907A>G	uc001kfb.3	+	4	1423	c.391A>G	c.(391-393)Act>Gct	p.T131A	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	131	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(110)|p.R130*(72)|p.R130Q(68)|p.0?(37)|p.R130fs*4(15)|p.R130L(13)|p.R130P(7)|p.K128_R130del(7)|p.T131fs*3(6)|p.?(5)|p.R55fs*1(5)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.T131A(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.T131P(2)|p.T131I(1)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.R130?(1)|p.T131N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGGGACGAACTGGTGTAAT	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89692907	A	G	89692907	3	3	4	1	0	0	0	0	1	0	0	0	12823	43	2	3	409	3	PTEN	10	89692907	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	51565959	89692907	45841840	36	222											
PHRF1	57661	broad.mit.edu	37	chr11	608380	608380	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccccacccagcccggAcgtgctgcaggctgccaccc	7	3	12	19	2	0	0	0	0	0	0	0	2	0	2	6	3	5	3	6	3	1	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:608380A>T	uc001lqe.3	+	13	3055	c.2924A>T	c.(2923-2925)gAc>gTc	p.D975V	PHRF1_uc010qwc.2_Missense_Mutation_p.D974V|PHRF1_uc010qwd.2_Missense_Mutation_p.D973V|PHRF1_uc010qwe.2_Missense_Mutation_p.D971V|PHRF1_uc009ybz.1_Missense_Mutation_p.D765V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	975							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCCAGCCCGGACGTGCTGCAG	0.657													T	608380	A	T	608380	3	4	4	1	0	0	0	0	1	0	0	0	11938	275	10	5	2971	5	PHRF1	11	608380	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08		608380	134398136	37	223											
OR51D1	390038	broad.mit.edu	37	chr11	4661587	4661587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacatactgtcacacaCtccttctgtctgcaccaaga	13	9	4	15	0	3	1	1	0	2	1	4	1	4	1	2	0	3	1	2	0	3	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:4661587C>T	uc010qyk.2	+	0	643	c.567C>T	c.(565-567)caC>caT	p.H189H		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGTCACACACTCCTTCTGTC	0.483													T	4661587	C	T	4661587	2	4	4	1	0	0	0	0	0	0	0	1	11169	564	20	2		2	OR51D1	11	4661587	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	4053207	4661587	130344929	38	224											
PICALM	8301	broad.mit.edu	37	chr11	85733503	85733503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctaataaatgtagacAtgtcatatcctgtaaaaaaa	18	10	5	8	1	1	1	1	0	0	1	2	1	2	1	3	0	0	2	3	0	9	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr11:85733503A>T	uc001pbm.3	-	3	676	c.359T>A	c.(358-360)aTg>aAg	p.M120K	PICALM_uc001pbl.3_Missense_Mutation_p.M120K|PICALM_uc001pbn.3_Missense_Mutation_p.M120K|PICALM_uc010rtl.2_Missense_Mutation_p.M69K	NM_007166	NP_009097	Q13492	PICAL_HUMAN	Homo sapiens phosphatidylinositol binding clathrin assembly protein (PICALM), transcript variant 1, mRNA.	120	ENTH.				clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AAATGTAGACATGTCATATCC	0.303			T	"MLLT10, MLL"	"TALL, AML, "								T	85733503	A	T	85733503	3	4	4	1	0	0	0	0	1	0	0	0	11957	217	8	5	1695	5	PICALM	11	85733503	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	81071916	85733503	49273013	39	225											
ANO2	57101	broad.mit.edu	37	chr12	5842030	5842030	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatcacactgaaaaccaaAcctgggcacgttcctgggga	12	8	10	11	1	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	4	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:5842030A>G	uc001qnm.2	-	14	1506	c.1434_splice	c.e14+1	p.Q478_splice		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	483						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TGAAAACCAAACCTGGGCACG	0.483													G	5842030	A	G	5842030	5	3	4	1	0	0	0	0	0	0	1	0	697	57	2	3	1612	3	ANO2	12	5842030	Splice_Site	SNP	A	TCGA-02-0055-01A-01D-1490-08		5842030	128009865	40	226											
GPR162	10536	broad.mit.edu	37	chr12	6946911	6946911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaggagagcaagagcagcGcatggacctgagtcacccag	12	4	13	12	1	1	3	1	1	0	2	1	5	1	4	3	2	3	3	3	2	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:6946911G>A	uc001qra.1	+	12	1758	c.1724G>A	c.(1723-1725)cGc>cAc	p.R575H	GPR162_uc001qrb.1_Missense_Mutation_p.R383H|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CAAGAGCAGCGCATGGACCTG	0.652													A	6946911	G	A	6946911	3	1	4	1	0	0	0	0	1	0	0	0	6720	1087	38	1		1	GPR162	12	6946911	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	1104881	6946911	126904984	41	227											
NOS1	4842	broad.mit.edu	37	chr12	117768967	117768967	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccaggcttcaggctacaCggagagcaggagccggggtg	9	5	17	10	2	1	1	1	0	0	1	2	4	2	2	2	6	3	3	2	6	1	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:117768967C>T	uc001twn.2	-	1					NOS1_uc001twm.2_5'UTR	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.						multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCAGGCTACACGGAGAGCAGG	0.582													T	117768967	C	T	117768967	1	4	4	1	0	0	0	0	0	0	0	0	10617	551	19	1		1	NOS1	12	117768967	Translation_Start_Site	SNP	C	TCGA-02-0055-01A-01D-1490-08	110822056	117768967	16082928	42	228											
UBC	7316	broad.mit.edu	37	chr12	125397201	125397201	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctctgagacggagcaccaGgtgcaaggtggactctttct	9	9	12	11	1	3	1	0	1	3	1	3	4	3	3	2	4	2	2	2	4	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr12:125397201G>T	uc001ugs.4	-	1	1575	c.1117C>A	c.(1117-1119)Ctg>Atg	p.L373M	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.L373M|UBC_uc001ugu.1_Missense_Mutation_p.L373M|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.L373M	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	373	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CGGAGCACCAGGTGCAAGGTG	0.532													T	125397201	G	T	125397201	3	4	4	1	0	0	0	0	1	0	0	0	16944	991	35	4	944	4	UBC	12	125397201	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	7628234	125397201	8454694	43	229											
OCA2	4948	broad.mit.edu	37	chr15	28202861	28202861	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagtcaggcgccagaCgtgaatctcgtgcttcagtt	8	10	12	11	3	3	3	2	2	1	1	4	3	3	3	1	1	2	3	1	1	1	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:28202861C>G	uc001zbh.4	-	15	1767	c.1657G>C	c.(1657-1659)Gtc>Ctc	p.V553L	OCA2_uc010ayv.3_Missense_Mutation_p.V529L	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	553					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding	p.V553I(2)|p.H552H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGCGCCAGACGTGAATCTCG	0.617									Oculocutaneous Albinism				G	28202861	C	G	28202861	3	3	4	1	0	0	0	0	1	0	0	0	10891	536	19	4	895	4	OCA2	15	28202861	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		28202861	74328531	44	230											
TRPM1	4308	broad.mit.edu	37	chr15	31342763	31342763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggctttgctgtccgtcGggggtgccaggcttcccagg	2	10	16	13	3	0	0	0	0	0	0	3	0	2	0	4	5	2	3	4	5	0	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:31342763G>A	uc021sia.1	-	10	1651	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	TRPM1_uc010azy.3_Missense_Mutation_p.P314L|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.P429L|TRPM1_uc001zfm.3_Missense_Mutation_p.P407L	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	407					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCTGTCCGTCGGGGGTGCCAG	0.557													A	31342763	G	A	31342763	3	1	4	1	0	0	0	0	1	0	0	0	16686	1116	39	1	3659	1	TRPM1	15	31342763	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	3139902	31342763	71188629	45	231											
EXD1	161829	broad.mit.edu	37	chr15	41483752	41483752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttggaagatagccacccGtttccatggaaaactgaagt	13	10	10	8	1	0	2	0	1	0	1	1	4	1	4	3	2	2	2	3	2	5	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:41483752G>A	uc010ucv.2	-	9	1024	c.752C>T	c.(751-753)aCg>aTg	p.T251M	EXD1_uc001znj.3_5'Flank|EXD1_uc001znk.3_Missense_Mutation_p.T193M	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	193					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						ATAGCCACCCGTTTCCATGGA	0.383													A	41483752	G	A	41483752	3	1	4	1	0	0	0	0	1	0	0	0	5338	1145	40	1	978	1	EXD1	15	41483752	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	10140989	41483752	61047640	46	232											
SPG11	80208	broad.mit.edu	37	chr15	44876437	44876437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggctctgtttcctcctgaTttcttccaagagtgtgctgg	4	16	11	10	0	2	2	0	1	2	1	5	2	5	2	3	2	1	3	3	2	1	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:44876437T>C	uc001ztx.3	-	29	5472	c.5441A>G	c.(5440-5442)aAt>aGt	p.N1814S	SPG11_uc010bdw.3_Missense_Mutation_p.N103S|SPG11_uc010ueh.2_Missense_Mutation_p.N1814S|SPG11_uc010uei.2_Missense_Mutation_p.N1814S|SPG11_uc001zty.1_Missense_Mutation_p.N543S	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	1814					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TTCCTCCTGATTTCTTCCAAG	0.512													C	44876437	T	C	44876437	3	2	4	1	0	0	0	0	1	0	0	0	15137	1493	52	3	1934	3	SPG11	15	44876437	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	3392685	44876437	57654955	47	233											
SEMA6D	80031	broad.mit.edu	37	chr15	48056239	48056239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcatccccactgtggtcGgggtgtttaccacgcagctc	6	10	12	13	2	0	0	0	0	0	0	3	0	1	0	3	4	2	4	3	4	1	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:48056239G>A	uc010bek.3	+	9	1300	c.940G>A	c.(940-942)Ggg>Agg	p.G314R	SEMA6D_uc001zvw.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvx.1_Missense_Mutation_p.G314R|SEMA6D_uc001zvy.3_Missense_Mutation_p.G314R|SEMA6D_uc001zvz.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwa.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwb.3_Missense_Mutation_p.G314R|SEMA6D_uc001zwc.3_Missense_Mutation_p.G314R	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	314	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CACTGTGGTCGGGGTGTTTAC	0.483													A	48056239	G	A	48056239	3	1	4	1	0	0	0	0	1	0	0	0	14135	1116	39	1	974	1	SEMA6D	15	48056239	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	3179802	48056239	54475153	48	234											
ALDH1A2	8854	broad.mit.edu	37	chr15	58253017	58253017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaaaggggctctgggCatttaaggcattgtaacaat	11	10	10	10	0	1	0	0	0	1	0	2	0	2	0	2	4	1	4	2	4	4	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr15:58253017C>T	uc002aex.3	-	11	1708	c.1435G>A	c.(1435-1437)Gcc>Acc	p.A479T	ALDH1A2_uc010ugv.2_Missense_Mutation_p.A458T|ALDH1A2_uc002aey.3_Missense_Mutation_p.A441T|ALDH1A2_uc010ugw.2_Missense_Mutation_p.A450T|ALDH1A2_uc002aew.3_Missense_Mutation_p.A383T	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	479					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	GGGCTCTGGGCATTTAAGGCA	0.408													T	58253017	C	T	58253017	3	4	4	1	0	0	0	0	1	0	0	0	491	710	25	2	129	2	ALDH1A2	15	58253017	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	10196778	58253017	44278375	49	235											
CLDN6	9074	broad.mit.edu	37	chr16	3065604	3065604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccggatgatggcatgcGccgtccagcacacggggatt	8	7	14	12	4	0	1	0	1	0	0	2	3	2	3	3	4	2	2	3	4	0	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:3065604G>A	uc021tbb.1	-	0	419	c.419C>T	c.(418-420)gCg>gTg	p.A140V	CLDN6_uc002csu.4_Missense_Mutation_p.A140V	NM_021195	NP_067018	P56747	CLD6_HUMAN	Homo sapiens claudin 6 (CLDN6), mRNA.	140					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						GATGGCATGCGCCGTCCAGCA	0.622													A	3065604	G	A	3065604	3	1	4	1	0	0	0	0	1	0	0	0	3520	1087	38	1	247	1	CLDN6	16	3065604	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		3065604	87289149	50	236											
SCNN1B	6338	broad.mit.edu	37	chr16	23360038	23360038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacacccacggccccaagCgcatcatctgtgaggggccc	9	4	10	18	2	2	1	1	1	1	0	2	1	2	1	5	3	2	1	5	3	2	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:23360038C>T	uc002dln.3	+	1	294	c.118C>T	c.(118-120)Cgc>Tgc	p.R40C		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	40					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CGGCCCCAAGCGCATCATCTG	0.622													T	23360038	C	T	23360038	3	4	4	1	0	0	0	0	1	0	0	0	14021	768	27	1	120	1	SCNN1B	16	23360038	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	20294434	23360038	66994715	51	237											
ITGAD	3681	broad.mit.edu	37	chr16	31422517	31422517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagggggccaggtgtccGtgtgtcccttgcctaggggg	3	8	18	12	2	0	0	0	0	0	0	2	1	2	0	5	5	1	0	5	5	1	2	rs147338780		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:31422517G>A	uc010cap.1	+	12	1526	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	ITGAD_uc002ebv.1_Missense_Mutation_p.V493M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	493					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CCAGGTGTCCGTGTGTCCCTT	0.632													A	31422517	G	A	31422517	3	1	4	1	0	0	0	0	1	0	0	0	7942	1145	40	1	1527	1	ITGAD	16	31422517	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	8062479	31422517	58932236	52	238											
WDR59	79726	broad.mit.edu	37	chr16	74976699	74976699	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagttagcattttttttAttccatttgacctgggaggc	8	16	10	7	0	0	1	0	1	0	0	1	2	1	2	2	3	1	3	2	3	2	7			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:74976699A>T	uc002fdh.1	-	6	573	c.471T>A	c.(469-471)aaT>aaA	p.N157K	WDR59_uc002fdi.3_Missense_Mutation_p.N157K|WDR59_uc021tli.1_Missense_Mutation_p.N136K	NM_030581	NP_085058	Q6PJI9	WDR59_HUMAN	Homo sapiens WD repeat domain 59 (WDR59), mRNA.	157										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						CATTTTTTTTATTCCATTTGA	0.502													T	74976699	A	T	74976699	3	4	4	1	0	0	0	0	1	0	0	0	17410	446	16	5	2533	5	WDR59	16	74976699	Missense_Mutation	SNP	A	TCGA-02-0055-01A-01D-1490-08	43554182	74976699	15378054	53	239											
KCNG4	93107	broad.mit.edu	37	chr16	84270708	84270708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaccagcttcccggcCgccaggaagctcacgatcac	11	4	10	16	3	2	1	2	0	0	1	3	3	3	2	4	2	3	3	4	2	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr16:84270708C>T	uc010voc.2	-	1	505	c.384G>A	c.(382-384)gcG>gcA	p.A128A	KCNG4_uc002fhu.1_Silent_p.A128A	NM_172347	NP_758857	Q8TDN1	KCNG4_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 4 (KCNG4), mRNA.	128						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GCTTCCCGGCCGCCAGGAAGC	0.637													T	84270708	C	T	84270708	2	4	4	1	0	0	0	0	0	0	0	1	8088	639	23	1		1	KCNG4	16	84270708	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	9294009	84270708	6084045	54	240											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)			T	7578203	C	T	7578203	3	4	4	1	0	0	0	0	1	0	0	0	16482	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		7578203	73617007	55	241											
MGAT5B	146664	broad.mit.edu	37	chr17	74936837	74936837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccagcatccctacgcGgagaacttcatcggcaagcc	9	8	8	16	3	2	1	1	0	1	1	5	2	3	1	3	2	4	2	3	2	3	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr17:74936837G>A	uc002jti.3	+	12	1885	c.1782G>A	c.(1780-1782)gcG>gcA	p.A594A	MGAT5B_uc002jth.3_Silent_p.A583A	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	585						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATCCCTACGCGGAGAACTTCA	0.552													A	74936837	G	A	74936837	2	1	4	1	0	0	0	0	0	0	0	1	9624	1103	39	1		1	MGAT5B	17	74936837	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08	67358634	74936837	6258373	56	242											
PAPL	390928	broad.mit.edu	37	chr19	39597641	39597641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaggccctggagtgccGtgcgtgtgaaggagtacggg	6	7	18	10	4	0	1	0	1	0	0	1	4	1	3	3	4	3	1	3	4	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:39597641G>A	uc002oki.3	+	11	1442	c.1168G>A	c.(1168-1170)Gtg>Atg	p.V390M	PAPL_uc010egl.3_Intron	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	390						extracellular region	acid phosphatase activity|metal ion binding										CTGGAGTGCCGTGCGTGTGAA	0.652													A	39597641	G	A	39597641	3	1	4	1	0	0	0	0	1	0	0	0	11503	1145	40	1	1210	1	PAPL	19	39597641	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		39597641	19531342	57	243											
PSG3	5669	broad.mit.edu	37	chr19	43376198	43376198	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcttaggagtctccaCtgtgcagaaaacagggtgaa	12	7	15	7	0	1	2	0	1	1	1	2	4	1	4	1	4	2	2	1	4	4	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr19:43376198C>A	uc002ovd.1	-	3	569	c.431_splice	c.e3-1	p.L144_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Splice_Site_p.L144_splice|PSG3_uc002oun.3_Splice_Site|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Splice_Site_p.L144_splice|PSG3_uc002ovb.3_Splice_Site_p.L144_splice	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	144	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGAGTCTCCACTGTGCAGAAA	0.527													A	43376198	C	A	43376198	5	1	4	1	0	0	0	0	0	0	1	0	12741	579	20	4		4	PSG3	19	43376198	Splice_Site	SNP	C	TCGA-02-0055-01A-01D-1490-08	3778557	43376198	15752785	58	244											
BTBD3	22903	broad.mit.edu	37	chr20	11900455	11900455	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaatccgtataccagatgtCgaacctgctgcttttctcgc	9	12	8	12	3	1	1	0	0	1	1	4	3	2	1	3	0	4	3	3	0	4	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:11900455C>G	uc002wnz.3	+	2	866	c.507C>G	c.(505-507)gtC>gtG	p.V169V	BTBD3_uc002wny.3_Silent_p.V108V|BTBD3_uc002woa.3_Silent_p.V108V|BTBD3_uc010zrf.2_Silent_p.V18V|BTBD3_uc010zrg.2_Silent_p.V18V|BTBD3_uc010zrh.2_Silent_p.V18V	NM_014962	NP_852108	Q9Y2F9	BTBD3_HUMAN	Homo sapiens BTB (POZ) domain containing 3 (BTBD3), transcript variant 1, mRNA.	169	BTB.									breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						TACCAGATGTCGAACCTGCTG	0.418													G	11900455	C	G	11900455	2	3	4	1	0	0	0	0	0	0	0	1	1554	871	31	4		4	BTBD3	20	11900455	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08		11900455	51125065	59	245											
DEFB118	117285	broad.mit.edu	37	chr20	29960755	29960755	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatacatgcaaaaatcttCgagcttgctgcattccatcc	13	11	6	11	1	1	1	0	0	1	1	4	2	3	1	2	0	5	4	2	0	4	4	rs34328728		TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:29960755C>T	uc002wvr.3	+	1	187	c.154C>T	c.(154-156)Cga>Tga	p.R52*		NM_054112	NP_473453	Q96PH6	DB118_HUMAN	Homo sapiens defensin, beta 118 (DEFB118), mRNA.	52					cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CAAAAATCTTCGAGCTTGCTG	0.438													T	29960755	C	T	29960755	4	4	4	1	0	0	0	0	0	1	0	0	4444	876	31	1	160	1	DEFB118	20	29960755	Nonsense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	18060300	29960755	33064765	60	246											
ASXL1	171023	broad.mit.edu	37	chr20	31022345	31022345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccggggttggactggCgccaggaccctcgcagacat	6	7	14	14	3	0	1	0	0	0	1	2	3	1	3	4	5	1	2	4	5	0	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:31022345C>T	uc021wbw.1	+	12	2262	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"								T	31022345	C	T	31022345	2	4	4	1	0	0	0	0	0	0	0	1	1071	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	1061590	31022345	32003175	61	247											
DLGAP4	22839	broad.mit.edu	37	chr20	35075140	35075140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagtatgaggcggcctGcgagtcagcctgcagtgaag	9	7	15	10	2	1	3	1	3	0	0	1	4	1	3	3	2	3	2	3	2	2	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr20:35075140G>A	uc002xff.3	+	6	1883	c.1448G>A	c.(1447-1449)tGc>tAc	p.C483Y	DLGAP4_uc010zvp.2_Missense_Mutation_p.C483Y	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	483					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GAGGCGGCCTGCGAGTCAGCC	0.647													A	35075140	G	A	35075140	3	1	4	1	0	0	0	0	1	0	0	0	4601	1319	46	2	1466	2	DLGAP4	20	35075140	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	4052795	35075140	27950380	62	248											
KRTAP19-3	337970	broad.mit.edu	37	chr21	31864264	31864264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcctccatagtagctgccGtagtagctcatggtgtcagg	8	10	13	10	1	2	0	2	0	0	0	3	0	3	0	3	3	3	5	3	3	4	4			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr21:31864264G>A	uc002yog.1	-	0	12	c.12C>T	c.(10-12)taC>taT	p.Y4Y		NM_181609	NP_853640	Q7Z4W3	KR193_HUMAN	Homo sapiens keratin associated protein 19-3 (KRTAP19-3), mRNA.	4						intermediate filament				large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	9						AGTAGCTGCCGTAGTAGCTCA	0.547													A	31864264	G	A	31864264	2	1	4	1	0	0	0	0	0	0	0	1	8588	1140	40	1		1	KRTAP19-3	21	31864264	Silent	SNP	G	TCGA-02-0055-01A-01D-1490-08		31864264	16265631	63	249											
TPST2	8459	broad.mit.edu	37	chr22	26937269	26937269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacttggaccaggcctggcGcatggccagcacgcgcggga	8	4	16	13	4	0	1	0	0	0	1	0	3	0	3	3	5	1	2	3	5	0	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chr22:26937269G>A	uc003acw.3	-	2	669	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	TPST2_uc003acx.3_Missense_Mutation_p.R110C|TPST2_uc011akf.1_Missense_Mutation_p.R110C	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	110					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						CAGGCCTGGCGCATGGCCAGC	0.697													A	26937269	G	A	26937269	3	1	4	1	0	0	0	0	1	0	0	0	16529	1087	38	1	821	1	TPST2	22	26937269	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08		26937269	24367297	64	250											
P2RY8	286530	broad.mit.edu	37	chrX	1584470	1584470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcacggacgtggtcctggCggagaagaggctctcgcggc	6	5	18	12	6	1	2	0	0	1	2	3	4	2	3	1	6	0	2	1	6	1	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:1584470C>T	uc022brv.1	-	0	982	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.A328T	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTGGTCCTGGCGGAGAAGAGG	0.682			T	CRLF2	"B-ALL, Downs associated ALL"								T	1584470	C	T	1584470	3	4	4	1	0	0	0	0	1	0	0	0	11431	768	27	1	101	1	P2RY8	23	1584470	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08		1584470	153686090	65	251											
GEMIN8	54960	broad.mit.edu	37	chrX	14027285	14027285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccagctgctgctgcCgccctgagaacaaacacgaa	11	6	9	15	2	0	1	0	1	0	1	1	3	1	1	3	0	7	4	3	0	3	0			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:14027285C>T	uc004cwb.3	-	4	819	c.476G>A	c.(475-477)cGg>cAg	p.R159Q	GEMIN8_uc004cwc.3_Missense_Mutation_p.R159Q|GEMIN8_uc004cwd.3_Missense_Mutation_p.R159Q	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	159					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTGCTGCTGCCGCCCTGAGAA	0.582													T	14027285	C	T	14027285	3	4	4	1	0	0	0	0	1	0	0	0	6390	652	23	1	256	1	GEMIN8	23	14027285	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	12442815	14027285	141243275	66	252											
KLHL34	257240	broad.mit.edu	37	chrX	21674666	21674666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccagaagtgggcccgcGcttcccgcatggcgggcact	6	5	14	16	5	0	1	0	0	0	1	1	1	1	1	3	3	0	4	3	3	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:21674666G>A	uc004czz.1	-	0	1783	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	JA611288_uc022btu.1_5'Flank	NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	414										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						GTGGGCCCGCGCTTCCCGCAT	0.721													A	21674666	G	A	21674666	3	1	4	1	0	0	0	0	1	0	0	0	8445	1087	38	1	697	1	KLHL34	23	21674666	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	7647381	21674666	133595894	67	253											
USP11	8237	broad.mit.edu	37	chrX	47102906	47102906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactacaacaactcctactaCggcctgatgctttttggaca	11	11	7	12	1	0	1	0	1	0	0	1	3	1	2	2	2	6	1	2	2	5	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47102906C>T	uc004dhp.3	+	12	1824	c.1824C>T	c.(1822-1824)taC>taT	p.Y608Y	USP11_uc004dhq.3_Silent_p.Y335Y	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	608					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ACTCCTACTACGGCCTGATGC	0.592													T	47102906	C	T	47102906	2	4	4	1	0	0	0	0	0	0	0	1	17144	547	19	1		1	USP11	23	47102906	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	25428240	47102906	108167654	68	254											
ZNF81	347344	broad.mit.edu	37	chrX	47775654	47775654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgggaaggccttcaccGacaggtcaaatttcaataaa	15	9	9	8	1	3	0	3	0	0	0	3	2	3	1	2	3	0	0	2	3	6	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:47775654G>A	uc022bvq.1	+	4	1858	c.1609G>A	c.(1609-1611)Gac>Aac	p.D537N	ZNF81_uc010nhy.2_Missense_Mutation_p.D537N	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	537						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				GGCCTTCACCGACAGGTCAAA	0.443													A	47775654	G	A	47775654	3	1	4	1	0	0	0	0	1	0	0	0	18273	1058	37	1	1623	1	ZNF81	23	47775654	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	672748	47775654	107494906	69	255											
ERCC6L	54821	broad.mit.edu	37	chrX	71424939	71424939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcactttttatgtcaagCgctttaactaagcagtttag	10	16	7	8	1	2	0	1	0	1	0	2	0	2	0	0	0	4	4	0	0	5	8			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:71424939C>T	uc004eaq.1	-	1	3775	c.3678G>A	c.(3676-3678)gcG>gcA	p.A1226A	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Silent_p.A1103A	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	1226					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TTATGTCAAGCGCTTTAACTA	0.363													T	71424939	C	T	71424939	2	4	4	1	0	0	0	0	0	0	0	1	5259	755	27	1		1	ERCC6L	23	71424939	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	23649285	71424939	83845621	70	256											
TBX22	50945	broad.mit.edu	37	chrX	79286010	79286010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaggtggaagcagtggCtcatctccagtgacctctag	9	10	11	11	0	4	1	2	1	2	0	5	2	4	2	2	3	1	2	2	3	2	2			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:79286010C>T	uc010nmg.1	+	8	1097	c.963C>T	c.(961-963)ggC>ggT	p.G321G	TBX22_uc004edi.1_Silent_p.G201G|TBX22_uc004edj.1_Silent_p.G321G	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	321					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GAAGCAGTGGCTCATCTCCAG	0.433													T	79286010	C	T	79286010	2	4	4	1	0	0	0	0	0	0	0	1	15758	784	28	2		2	TBX22	23	79286010	Silent	SNP	C	TCGA-02-0055-01A-01D-1490-08	7861071	79286010	75984550	71	257											
H2BFWT	158983	broad.mit.edu	37	chrX	103267902	103267902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcggtccaatatgtcatGaaccaaagaatccatgacac	15	8	8	10	1	1	3	1	2	0	1	3	4	3	3	3	1	2	0	3	1	5	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:103267902G>A	uc004elr.3	-	0	355	c.331C>T	c.(331-333)Cat>Tat	p.H111Y		NM_001002916	NP_001002916	Q7Z2G1	H2BWT_HUMAN	Homo sapiens H2B histone family, member W, testis-specific (H2BFWT), mRNA.	111					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AATATGTCATGAACCAAAGAA	0.637													A	103267902	G	A	103267902	3	1	4	1	0	0	0	0	1	0	0	0	6987	1290	45	2	204	2	H2BFWT	23	103267902	Missense_Mutation	SNP	G	TCGA-02-0055-01A-01D-1490-08	23981892	103267902	52002658	72	258											
FAM70A	55026	broad.mit.edu	37	chrX	119394752	119394752	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggtggtggcttttcAaaaggtggatagtagggtgg	9	12	17	3	0	1	0	1	0	0	0	1	1	1	1	0	7	0	3	0	7	5	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:119394752A>G	uc004eso.4	-	9	1250	c.1023T>C	c.(1021-1023)ttT>ttC	p.F341F	FAM70A_uc004esp.4_Silent_p.F317F|FAM70A_uc010nqo.3_Silent_p.F233F	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	341	Pro-rich.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GTGGCTTTTCAAAAGGTGGAT	0.507													G	119394752	A	G	119394752	2	3	4	1	0	0	0	0	0	0	0	1	5655	127	5	3		3	FAM70A	23	119394752	Silent	SNP	A	TCGA-02-0055-01A-01D-1490-08	16126850	119394752	35875808	73	259											
FAM45A	55855	broad.mit.edu	37	chrX	129629140	129629140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcggcggaagatggctgCggccgagttggcggacactc	6	5	19	11	6	0	1	0	0	0	1	1	4	0	3	1	7	1	2	1	7	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:129629140C>T	uc010nrh.3	+	0	226	c.8C>T	c.(7-9)gCg>gTg	p.A3V	BC043223_uc004evu.3_Non-coding_Transcript	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	3								p.A3E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		AAGATGGCTGCGGCCGAGTTG	0.542													T	129629140	C	T	129629140	3	4	4	1	0	0	0	0	1	0	0	0	5615	783	27	1		1	FAM45A	23	129629140	Missense_Mutation	SNP	C	TCGA-02-0055-01A-01D-1490-08	10234388	129629140	25641420	74	260											
F9	2158	broad.mit.edu	37	chrX	138623341	138623341	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttgaaggaaagaactgTgaattaggtaagtaactatt	16	12	11	2	0	0	3	0	2	0	1	0	5	0	5	0	3	2	2	0	3	8	6			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:138623341T>G	uc004fas.1	+	3	413	c.384T>G	c.(382-384)tgT>tgG	p.C128W	F9_uc004fat.1_Intron	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	128	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GAAAGAACTGTGAATTAGGTA	0.348													G	138623341	T	G	138623341	3	3	4	1	0	0	0	0	1	0	0	0	5396	1702	59	5	398	5	F9	23	138623341	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	8994201	138623341	16647219	75	261											
GABRA3	2556	broad.mit.edu	37	chrX	151336828	151336828	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcaaccttgctgacacTgttgtaggtcttggtctcag	6	16	10	9	0	3	1	2	1	2	0	4	1	3	1	1	2	2	3	1	2	2	5			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:151336828T>A	uc010ntk.1	-	9	1591	c.1351A>T	c.(1351-1353)Agt>Tgt	p.S451C		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	451					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTGCTGACACTGTTGTAGGTC	0.527													A	151336828	T	A	151336828	3	1	4	1	0	0	0	0	1	0	0	0	6214	1580	55	5	131	5	GABRA3	23	151336828	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	12713487	151336828	3933732	76	262											
CTAG2	30848	broad.mit.edu	37	chrX	153880614	153880614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctgggctccctcgggTggcggcgggcctggtgtacc	1	9	16	15	3	1	0	0	0	1	0	4	0	2	0	4	6	1	2	4	6	1	1			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:153880614T>C	uc004fmi.2	-	1	625	c.561A>G	c.(559-561)ccA>ccG	p.P187P	CTAG2_uc004fmh.2_Intron	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	187	Poly-Pro.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTCCCTCGGGTGGCGGCGGGC	0.602													C	153880614	T	C	153880614	2	2	4	1	0	0	0	0	0	0	0	1	4024	1683	59	3		3	CTAG2	23	153880614	Silent	SNP	T	TCGA-02-0055-01A-01D-1490-08	2543786	153880614	1389946	77	263											
F8	2157	broad.mit.edu	37	chrX	154156957	154156957	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggggctctgatttTcatcctcatcataaatgtca	9	13	9	10	1	5	1	4	1	1	0	6	1	6	1	1	2	2	2	1	2	2	3			TCGA-02-0055-01A-01D-1490-08	TCGA-02-0055-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cd89af4-5118-4adb-aa1d-fbd03bf42a33	b1a5f80a-e21a-4d8c-9a2b-b7a3c47c28b7	g.chrX:154156957T>G	uc004fmt.3	-	13	5279	c.5108A>C	c.(5107-5109)gAa>gCa	p.E1703A		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	1703					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCTCTGATTTTCATCCTCATC	0.408													G	154156957	T	G	154156957	3	3	4	1	0	0	0	0	1	0	0	0	5392	1783	62	5	2027	5	F8	23	154156957	Missense_Mutation	SNP	T	TCGA-02-0055-01A-01D-1490-08	276343	154156957	1113603	78	264											
NKAIN1	79570	broad.mit.edu	37	chr1	31658176	31658176	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagccaggctgcatacTggggaaagcagaggtgggat	11	5	16	9	0	0	1	0	0	0	1	0	3	0	3	2	5	4	4	2	5	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:31658176T>C	uc010ogd.2	-	3	533	c.193_splice	c.e3-1	p.Y65_splice	NKAIN1_uc010ogc.2_Intron	NM_024522	NP_078798	Q4KMZ8	NKAI1_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 1 (NKAIN1), mRNA.	65						integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(1)|kidney(2)|ovary(1)|prostate(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|Breast(348;0.141)|all_neural(195;0.146)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0184)|READ - Rectum adenocarcinoma(331;0.148)		GGCTGCATACTGGGGAAAGCA	0.587													C	31658176	T	C	31658176	5	2	5	1	0	0	0	0	0	0	1	0	10511	1594	55	3	452	3	NKAIN1	1	31658176	Splice_Site	SNP	T	TCGA-02-2470-01A-01D-1494-08		31658176	217592445	1	265											
KCNA2	3737	broad.mit.edu	37	chr1	111146955	111146955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgggtattcaaagagaagCcacacttgtctctgaaactc	12	11	8	10	0	3	2	1	1	2	1	5	3	3	2	1	1	2	1	1	1	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:111146955C>A	uc021oro.1	-	0	450	c.450G>T	c.(448-450)tgG>tgT	p.W150C	KCNA2_uc009wfv.2_Missense_Mutation_p.W150C|KCNA2_uc009wfw.3_Missense_Mutation_p.W150C	NM_004974	NP_004965	P16389	KCNA2_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 2 (KCNA2), transcript variant 1, mRNA.	150						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CAAAGAGAAGCCACACTTGTC	0.473													A	111146955	C	A	111146955	3	1	5	1	0	0	0	0	1	0	0	0	8061	740	26	4	1053	4	KCNA2	1	111146955	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	79488779	111146955	138103666	2	266											
RYR2	6262	broad.mit.edu	37	chr1	237604722	237604722	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaacatgtagacacaggccTatggcttacttaccagtctg	12	10	8	11	0	1	1	0	0	1	1	1	1	1	1	2	2	3	2	2	2	5	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr1:237604722T>A	uc001hyl.1	+	12	1229	c.1109T>A	c.(1108-1110)cTa>cAa	p.L370Q		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	370	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACACAGGCCTATGGCTTACT	0.373													A	237604722	T	A	237604722	3	1	5	1	0	0	0	0	1	0	0	0	13860	1522	53	5	1159	5	RYR2	1	237604722	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	126457767	237604722	11645899	3	267											
TPO	7173	broad.mit.edu	37	chr2	1488428	1488428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccttccagcagtacGtgggtccctatgaaggctat	8	9	12	12	2	0	1	0	1	0	0	2	2	2	1	4	3	2	3	4	3	4	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:1488428G>A	uc002qwr.3	+	8	1485	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	TPO_uc010ewj.3_Non-coding_Transcript|TPO_uc002qww.3_Missense_Mutation_p.V467M|TPO_uc002qwx.3_Missense_Mutation_p.V467M|TPO_uc002qwu.3_Missense_Mutation_p.V467M|TPO_uc010yio.2_Missense_Mutation_p.V294M|TPO_uc010yip.2_Missense_Mutation_p.V467M|TPO_uc002qwy.1_5'UTR|TPO_uc002qwz.3_Non-coding_Transcript	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	467					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCAGCAGTACGTGGGTCCCTA	0.587													A	1488428	G	A	1488428	3	1	5	1	0	0	0	0	1	0	0	0	16511	1145	40	1	1429	1	TPO	2	1488428	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		1488428	241710945	4	268											
EMILIN1	11117	broad.mit.edu	37	chr2	27303034	27303034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaggaactggtgtgcctaCgtggtgacccggacagtgag	9	8	15	9	2	0	2	0	2	0	0	0	4	0	4	2	4	4	0	2	4	3	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:27303034C>T	uc002rii.4	+	1	685	c.186C>T	c.(184-186)taC>taT	p.Y62Y	EMILIN1_uc010eyq.2_Silent_p.Y62Y	NM_007046	NP_008977	Q9Y6C2	EMIL1_HUMAN	Homo sapiens elastin microfibril interfacer 1 (EMILIN1), mRNA.	62	EMI.				cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGTGTGCCTACGTGGTGACCC	0.592													T	27303034	C	T	27303034	2	4	5	1	0	0	0	0	0	0	0	1	5134	547	19	1		1	EMILIN1	2	27303034	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	25814606	27303034	215896339	5	269											
PSME4	23198	broad.mit.edu	37	chr2	54094006	54094006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctagcaccccagcatggcGtttgaccaactctgcaaaga	11	8	8	14	1	1	2	0	1	1	1	2	2	2	2	4	1	4	4	4	1	3	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:54094006G>A	uc002rxp.2	-	44	5331	c.5275C>T	c.(5275-5277)Cgc>Tgc	p.R1759C	PSME4_uc010yop.1_Missense_Mutation_p.R1649C|PSME4_uc010yoq.1_Non-coding_Transcript|PSME4_uc010fbu.1_Missense_Mutation_p.R1134C|PSME4_uc010fbv.1_Missense_Mutation_p.R903C|PSME4_uc010fbt.1_Missense_Mutation_p.R194C	NM_014614	NP_055429	Q14997	PSME4_HUMAN	Homo sapiens proteasome (prosome, macropain) activator subunit 4 (PSME4), mRNA.	1759					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			CCAGCATGGCGTTTGACCAAC	0.418													A	54094006	G	A	54094006	3	1	5	1	0	0	0	0	1	0	0	0	12794	1145	40	1	264	1	PSME4	2	54094006	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	26790972	54094006	189105367	6	270											
IL1R2	7850	broad.mit.edu	37	chr2	102638708	102638708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagaccatatcagcttctCtgggtaaggcccacaaggac	12	8	9	12	0	3	1	2	0	1	1	4	2	3	2	2	3	1	2	2	3	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:102638708C>T	uc002tbm.3	+	5	977	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	IL1R2_uc002tbn.3_Silent_p.L250L|IL1R2_uc002tbo.1_Silent_p.L250L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	250	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	p.S249Y(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	ATCAGCTTCTCTGGGTAAGGC	0.507													T	102638708	C	T	102638708	2	4	5	1	0	0	0	0	0	0	0	1	7717	912	32	2		2	IL1R2	2	102638708	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	48544702	102638708	140560665	7	271											
SLC5A7	60482	broad.mit.edu	37	chr2	108609520	108609520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaaaacgcatgggcggaCtcctgtttattcctgcactg	9	11	11	10	2	0	0	0	0	0	0	2	2	2	2	2	3	2	3	2	3	3	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:108609520C>A	uc002tdv.3	+	3	661	c.385C>A	c.(385-387)Ctc>Atc	p.L129I	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L129I|SLC5A7_uc010ywn.2_Missense_Mutation_p.L16I	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	129					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.L129L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATGGGCGGACTCCTGTTTAT	0.453													A	108609520	C	A	108609520	3	1	5	1	0	0	0	0	1	0	0	0	14764	565	20	4	395	4	SLC5A7	2	108609520	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	5970812	108609520	134589853	8	272											
STAM2	10254	broad.mit.edu	37	chr2	153003822	153003822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcacatactttaggatgtgCcttttaaggaaaaggaaagg	14	12	10	5	0	1	0	1	0	0	0	1	3	1	3	1	4	2	0	1	4	6	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:153003822C>T	uc002tyc.4	-	5	651	c.301_splice	c.e5-1	p.A101_splice	STAM2_uc010foa.1_Splice_Site_p.A101_splice|STAM2_uc002tyd.3_Splice_Site_p.A101_splice	NM_005843	NP_005834	O75886	STAM2_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 2 (STAM2), mRNA.	101	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		TTAGGATGTGCCTTTTAAGGA	0.299													T	153003822	C	T	153003822	3	4	5	1	0	0	0	0	1	0	0	0	15345	753	26	2	1316	2	STAM2	2	153003822	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	44394302	153003822	90195551	9	273											
NHEJ1	79840	broad.mit.edu	37	chr2	220012493	220012493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagactcatgcccatcaGaggacgaatcaaatgttggg	12	8	11	10	1	3	2	3	0	0	2	3	4	3	3	2	2	2	1	2	2	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr2:220012493G>A	uc002vjp.4	-	3	561	c.415C>T	c.(415-417)Ctg>Ttg	p.L139L	NHEJ1_uc002vjq.4_Non-coding_Transcript	NM_024782	NP_079058	Q9H9Q4	NHEJ1_HUMAN	Homo sapiens nonhomologous end-joining factor 1 (NHEJ1), mRNA.	139					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		ATGCCCATCAGAGGACGAATC	0.433								Non-homologous end-joining					A	220012493	G	A	220012493	2	1	5	1	0	0	0	0	0	0	0	1	10478	933	33	2		2	NHEJ1	2	220012493	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	67008671	220012493	23186880	10	274											
XYLB	9942	broad.mit.edu	37	chr3	38411555	38411555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccttcctcaggttctggaAtgaatttgttgcagatacag	9	15	9	8	0	2	2	1	1	1	1	4	3	4	3	2	2	2	3	2	2	3	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:38411555A>G	uc003cic.2	+	8	764	c.655A>G	c.(655-657)Atg>Gtg	p.M219V	XYLB_uc011ayp.1_Missense_Mutation_p.M82V|XYLB_uc003cid.1_Missense_Mutation_p.M141V	NM_005108	NP_005099	O75191	XYLB_HUMAN	Homo sapiens xylulokinase homolog (H. influenzae) (XYLB), mRNA.	219					D-xylose metabolic process|generation of precursor metabolites and energy|xylulose catabolic process		ATP binding|xylulokinase activity			endometrium(3)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(1)|prostate(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.00372)|Kidney(284;0.00405)		AGGTTCTGGAATGAATTTGTT	0.443													G	38411555	A	G	38411555	3	3	5	1	0	0	0	0	1	0	0	0	17564	101	4	3	689	3	XYLB	3	38411555	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08		38411555	159610875	11	275											
CD96	10225	broad.mit.edu	37	chr3	111264248	111264248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttctcattcagacacaCggtaagcataactggtagag	14	9	8	10	1	2	2	2	0	1	2	3	2	2	2	1	2	3	3	1	2	4	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr3:111264248C>T	uc003dxw.3	+	2	588	c.418_splice	c.e2+1	p.V140_splice	CD96_uc003dxv.3_Splice_Site_p.V140_splice|CD96_uc003dxx.3_Splice_Site_p.V140_splice|CD96_uc010hpy.1_Splice_Site_p.V140_splice	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	140					cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TTCAGACACACGGTAAGCATA	0.418									Opitz Trigonocephaly syndrome				T	111264248	C	T	111264248	2	4	5	1	0	0	0	0	0	0	0	1	3078	550	19	1		1	CD96	3	111264248	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	72852693	111264248	86758182	12	276											
DOK7	285489	broad.mit.edu	37	chr4	3478126	3478126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttggagagcggcccggctaCcctgcacctctgcaatgatg	7	8	13	13	2	1	2	0	1	1	1	1	3	1	2	3	3	4	4	3	3	2	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:3478126C>A	uc003ghd.3	+	3	459	c.389C>A	c.(388-390)aCc>aAc	p.T130N	DOK7_uc003ghe.3_Missense_Mutation_p.T130N	NM_173660	NP_775931	Q18PE1	DOK7_HUMAN	Homo sapiens docking protein 7 (DOK7), transcript variant 1, mRNA.	130	IRS-type PTB.				positive regulation of protein tyrosine kinase activity	cell junction|synapse	insulin receptor binding|protein kinase binding			kidney(1)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	5				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GGCCCGGCTACCCTGCACCTC	0.672													A	3478126	C	A	3478126	3	1	5	1	0	0	0	0	1	0	0	0	4741	507	18	4	403	4	DOK7	4	3478126	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		3478126	187676150	13	277											
GABRA4	2557	broad.mit.edu	37	chr4	46967126	46967126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaaactcgataagggccGaaaatacaaaagcaaagcag	20	3	9	9	2	0	0	0	0	0	0	1	2	0	0	1	1	5	3	1	1	8	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:46967126G>A	uc003gxg.3	-	7	1978	c.995C>T	c.(994-996)tCg>tTg	p.S332L	GABRA4_uc021xnz.1_Missense_Mutation_p.S313L|GABRA4_uc021xoa.1_Missense_Mutation_p.S262L	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	332					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATAAGGGCCGAAAATACAAA	0.458													A	46967126	G	A	46967126	3	1	5	1	0	0	0	0	1	0	0	0	6215	1059	37	1	677	1	GABRA4	4	46967126	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	43489000	46967126	144187150	14	278											
NUP54	53371	broad.mit.edu	37	chr4	77065621	77065621	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtcccaaatcctccaaAcccacctaattaaaaaagaa	17	9	3	12	0	0	1	0	0	0	1	3	1	3	1	5	0	1	1	5	0	7	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:77065621A>G	uc003hjs.3	-	1	201	c.73T>C	c.(73-75)Ttt>Ctt	p.F25L	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.F25L|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	25	9 X 2 AA repeats of F-G.|Gly-rich.			AGGF -> GWV (in Ref. 1; AAF67488).	carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						AATCCTCCAAACCCACCTAAT	0.333													G	77065621	A	G	77065621	3	3	5	1	0	0	0	0	1	0	0	0	10843	43	2	3	1494	3	NUP54	4	77065621	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	30098495	77065621	114088655	15	279											
ARHGAP24	83478	broad.mit.edu	37	chr4	86916597	86916597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttttggatgggccccCgcaggacgacctttcccacc	5	9	10	17	2	0	0	0	0	0	0	1	3	1	2	6	3	0	2	6	3	0	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:86916597C>A	uc003hpk.3	+	8	2239	c.1790C>A	c.(1789-1791)cCg>cAg	p.P597Q	ARHGAP24_uc003hpl.3_Missense_Mutation_p.P502Q|ARHGAP24_uc010ikf.3_Missense_Mutation_p.P512Q|ARHGAP24_uc003hpm.3_Missense_Mutation_p.P504Q	NM_001025616	NP_001036134	Q8N264	RHG24_HUMAN	Homo sapiens Rho GTPase activating protein 24 (ARHGAP24), transcript variant 1, mRNA.	597					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		GATGGGCCCCCGCAGGACGAC	0.557													A	86916597	C	A	86916597	3	1	5	1	0	0	0	0	1	0	0	0	876	652	23	4	1936	4	ARHGAP24	4	86916597	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	9850976	86916597	104237679	16	280											
PDHA2	5161	broad.mit.edu	37	chr4	96761886	96761886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactttatatggggatggCgctgcgaatcaggggcagat	9	11	15	6	2	1	2	1	1	0	1	1	4	1	3	0	5	1	2	0	5	3	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:96761886C>T	uc003htr.4	+	0	648	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	195					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.G195G(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGGGGATGGCGCTGCGAATC	0.473													T	96761886	C	T	96761886	2	4	5	1	0	0	0	0	0	0	0	1	11741	755	27	1		1	PDHA2	4	96761886	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	9845289	96761886	94392390	17	281											
ADH7	131	broad.mit.edu	37	chr4	100349053	100349053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaccactgtgtactcGgtaaatgtactggtgttcat	9	14	8	10	1	2	0	2	0	0	0	4	0	3	0	2	2	2	4	2	2	4	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:100349053G>A	uc003huv.2	-	4	718	c.477C>T	c.(475-477)acC>acT	p.T159T	ADH7_uc021xqj.1_Silent_p.T167T	NM_000673	NP_000664	P40394	ADH7_HUMAN	Homo sapiens alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide (ADH7), transcript variant 2, mRNA.	159					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	CTGTGTACTCGGTAAATGTAC	0.458													A	100349053	G	A	100349053	2	1	5	1	0	0	0	0	0	0	0	1	313	1103	39	1		1	ADH7	4	100349053	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	3587167	100349053	90805223	18	282											
DCHS2	54798	broad.mit.edu	37	chr4	155157377	155157377	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtgagaaaacagggtgaTacaatagaataggtcaattc	17	9	11	4	0	1	4	1	3	0	2	2	5	1	4	0	2	2	0	0	2	8	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:155157377T>C	uc003inw.2	-	24	7062	c.7062A>G	c.(7060-7062)gtA>gtG	p.V2354V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2354	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AACAGGGTGATACAATAGAAT	0.393													C	155157377	T	C	155157377	2	2	5	1	0	0	0	0	0	0	0	1	4322	1393	49	3		3	DCHS2	4	155157377	Silent	SNP	T	TCGA-02-2470-01A-01D-1494-08	54808324	155157377	35996899	19	283											
CCDC110	256309	broad.mit.edu	37	chr4	186381079	186381079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagtaattttggatttaTccagaattactgtatcagct	12	15	7	7	0	1	1	1	0	0	1	2	2	2	2	1	1	2	4	1	1	5	7			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr4:186381079T>C	uc003ixu.4	-	5	738	c.662A>G	c.(661-663)gAt>gGt	p.D221G	CCDC110_uc003ixv.4_Missense_Mutation_p.D184G|CCDC110_uc011ckt.1_Missense_Mutation_p.D221G	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	221						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGATTTATCCAGAATTAC	0.323													C	186381079	T	C	186381079	3	2	5	1	0	0	0	0	1	0	0	0	2773	1435	50	3	1847	3	CCDC110	4	186381079	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	31223702	186381079	4773197	20	284											
WDR70	55100	broad.mit.edu	37	chr5	37480065	37480065	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtataaaaggagaccagtaTattgtggacatggccaacac	15	9	10	7	0	0	1	0	0	0	1	0	3	0	2	2	3	1	2	2	3	6	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:37480065T>G	uc003jkv.3	+	7	874	c.816T>G	c.(814-816)taT>taG	p.Y272*	WDR70_uc010iva.1_Nonsense_Mutation_p.Y272*	NM_018034	NP_060504	Q9NW82	WDR70_HUMAN	Homo sapiens WD repeat domain 70 (WDR70), mRNA.	272										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GAGACCAGTATATTGTGGACA	0.348													G	37480065	T	G	37480065	4	3	5	1	0	0	0	0	0	1	0	0	17423	1413	49	5	846	5	WDR70	5	37480065	Nonsense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08		37480065	143435195	21	285											
C5orf34	375444	broad.mit.edu	37	chr5	43509299	43509299	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaattctttctggttgtTctaaaggatgtgctgaaaca	11	14	10	6	1	3	1	0	1	3	0	3	4	3	2	0	2	2	3	0	2	4	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:43509299T>G	uc003jnz.2	-	1	545	c.143A>C	c.(142-144)gAa>gCa	p.E48A	C5orf34_uc011cpx.2_Intron	NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	48										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTCTGGTTGTTCTAAAGGATG	0.358													G	43509299	T	G	43509299	3	3	5	1	0	0	0	0	1	0	0	0	2315	1783	62	5	1821	5	C5orf34	5	43509299	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	6029234	43509299	137405961	22	286											
ERGIC1	57222	broad.mit.edu	37	chr5	172336690	172336690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacgagctctatgtcgAtgacccagacaaggacagcg	12	7	12	10	3	1	3	0	2	1	1	2	6	1	4	1	1	3	1	1	1	3	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr5:172336690A>G	uc003mbw.4	+	3	370	c.176A>G	c.(175-177)gAt>gGt	p.D59G	ERGIC1_uc003mby.4_5'UTR|ERGIC1_uc011dfa.2_5'UTR|ERGIC1_uc003mbz.4_Missense_Mutation_p.D14G	NM_001031711	NP_001026881	Q969X5	ERGI1_HUMAN	Homo sapiens endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1 (ERGIC1), mRNA.	59					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CTCTATGTCGATGACCCAGAC	0.542													G	172336690	A	G	172336690	3	3	5	1	0	0	0	0	1	0	0	0	5264	333	12	3	190	3	ERGIC1	5	172336690	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	128827391	172336690	8578570	23	287											
KIF13A	63971	broad.mit.edu	37	chr6	17837205	17837205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcacaacagcatggttCacaatccttttggctcggtc	9	13	7	12	1	3	0	3	0	0	0	6	0	4	0	1	3	2	3	1	3	2	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:17837205C>T	uc003ncg.4	-	10	1219	c.1059G>A	c.(1057-1059)gtG>gtA	p.V353V	KIF13A_uc003ncf.3_Silent_p.V353V|KIF13A_uc003nch.4_Silent_p.V353V|KIF13A_uc003nci.4_Silent_p.V353V|KIF13A_uc003ncj.3_Silent_p.V29V	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	353					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CAGCATGGTTCACAATCCTTT	0.502													T	17837205	C	T	17837205	2	4	5	1	0	0	0	0	0	0	0	1	8332	813	29	2		2	KIF13A	6	17837205	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		17837205	153277862	24	288											
RFX6	222546	broad.mit.edu	37	chr6	117215161	117215161	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctctaggtatcattactAtgggattggcatcaaagaga	12	13	10	6	0	3	1	2	0	1	1	3	3	3	2	0	3	2	3	0	3	5	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:117215161A>C	uc003pxm.3	+	4	641	c.578A>C	c.(577-579)tAt>tCt	p.Y193S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	193					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TATCATTACTATGGGATTGGC	0.413													C	117215161	A	C	117215161	3	2	5	1	0	0	0	0	1	0	0	0	13355	449	16	5	596	5	RFX6	6	117215161	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	99377956	117215161	53899906	25	289											
SYNJ2	8871	broad.mit.edu	37	chr6	158483196	158483196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggagaacgtcagtccacGgtgaggctcgctgcgcactg	7	6	17	11	4	1	2	1	1	0	1	3	3	2	2	1	4	2	3	1	4	1	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr6:158483196G>A	uc003qqx.2	+	8	1233	c.1127_splice	c.e8+1	p.R376_splice	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Splice_Site_p.R376_splice|SYNJ2_uc003qqy.2_Splice_Site_p.R139_splice|SYNJ2_uc011efn.1_Splice_Site_p.R304_splice|SYNJ2_uc010kjo.1_Splice_Site_p.R325_splice|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	376	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GTCAGTCCACGGTGAGGCTCG	0.607													A	158483196	G	A	158483196	3	1	5	1	0	0	0	0	1	0	0	0	15550	1130	39	1	1157	1	SYNJ2	6	158483196	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	41268035	158483196	12631871	26	290											
IGFBP1	3484	broad.mit.edu	37	chr7	45932660	45932660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatcaggggagaccccaaCtgccagatatattttaatgt	13	10	10	8	0	1	3	1	0	0	3	1	5	1	3	3	2	2	0	3	2	4	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:45932660C>T	uc003tnp.3	+	3	1043	c.750C>T	c.(748-750)aaC>aaT	p.N250N		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	250	Thyroglobulin type-1.					extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						GAGACCCCAACTGCCAGATAT	0.433													T	45932660	C	T	45932660	2	4	5	1	0	0	0	0	0	0	0	1	7636	564	20	2		2	IGFBP1	7	45932660	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		45932660	113206003	27	291											
PARP12	64761	broad.mit.edu	37	chr7	139726106	139726106	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagctgccgctcgtcCacggccttccctccgttctg	4	10	10	17	4	1	0	0	0	1	0	5	1	4	1	5	2	3	3	5	2	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:139726106C>T	uc003vvl.1	-	10	2545	c.1671G>A	c.(1669-1671)gtG>gtA	p.V557V	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	557	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCGCTCGTCCACGGCCTTCC	0.572													T	139726106	C	T	139726106	2	4	5	1	0	0	0	0	0	0	0	1	11533	581	21	2		2	PARP12	7	139726106	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	93793446	139726106	19412557	28	292											
CNTNAP2	26047	broad.mit.edu	37	chr7	146818164	146818164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactctgtggtcattgagcGccaggggcggagcattaacc	8	8	14	11	2	2	1	1	1	1	0	2	2	2	2	2	4	3	2	2	4	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:146818164G>A	uc003weu.2	+	5	1364	c.848G>A	c.(847-849)cGc>cAc	p.R283H		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	283	Laminin G-like 1.		R -> C.		behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTCATTGAGCGCCAGGGGCGG	0.532										HNSCC(39;0.1)			A	146818164	G	A	146818164	3	1	5	1	0	0	0	0	1	0	0	0	3678	1087	38	1	870	1	CNTNAP2	7	146818164	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	7092058	146818164	12320499	29	293											
MLL3	58508	broad.mit.edu	37	chr7	151962124	151962124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaatgaaaacttactTgcagttctggcacactttgc	13	13	7	8	0	1	2	0	2	1	0	1	2	1	2	0	1	4	3	0	1	5	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr7:151962124T>C	uc003wla.3	-	8	1403	c.1184_splice	c.e8+1	p.K395_splice		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	395					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAAACTTACTTGCAGTTCTGG	0.403			N		medulloblastoma								C	151962124	T	C	151962124	3	2	5	1	0	0	0	0	1	0	0	0	9697	1826	63	3	13760	3	MLL3	7	151962124	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	5143960	151962124	7176539	30	294											
NEFM	4741	broad.mit.edu	37	chr8	24772112	24772112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagacatctcgacggCgctgaaggaaatccgctccc	12	5	11	13	4	1	3	0	1	1	2	4	6	3	4	2	2	0	2	2	2	3	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr8:24772112C>T	uc003xed.4	+	0	839	c.806C>T	c.(805-807)gCg>gTg	p.A269V	NEFM_uc011lac.1_Missense_Mutation_p.A269V|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	269	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton	p.A269V(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCTCGACGGCGCTGAAGGAA	0.592													T	24772112	C	T	24772112	3	4	5	1	0	0	0	0	1	0	0	0	10392	768	27	1	808	1	NEFM	8	24772112	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		24772112	121591910	31	295											
CA9	768	broad.mit.edu	37	chr9	35674152	35674152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgggcgaggaggatctgCccagtgaagaggattcaccc	10	6	14	11	1	2	2	1	1	1	1	2	6	2	5	2	4	1	0	2	4	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35674152C>T	uc003zxo.4	+	0	238	c.196C>T	c.(196-198)Ccc>Tcc	p.P66S	C9orf100_uc003zxl.3_Non-coding_Transcript|CA9_uc003zxn.1_Non-coding_Transcript	NM_001216	NP_001207	Q16790	CAH9_HUMAN	Homo sapiens carbonic anhydrase IX (CA9), mRNA.	66	Proteoglycan-like (PG).				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding	p.L65L(1)		kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGATCTGCCCAGTGAAGA	0.592													T	35674152	C	T	35674152	3	4	5	1	0	0	0	0	1	0	0	0	2550	739	26	2	198	2	CA9	9	35674152	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		35674152	105539279	32	296											
SPAG8	26206	broad.mit.edu	37	chr9	35810291	35810291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtctcaggttgctcctGgcggtagtcgtgaggctgtg	5	11	17	8	2	1	1	1	1	1	0	4	2	2	1	1	5	1	4	1	5	2	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:35810291G>T	uc003zye.3	-	5	1331	c.1216C>A	c.(1216-1218)Cag>Aag	p.Q406K	SPAG8_uc003zyg.3_Missense_Mutation_p.Q406K	NM_172312	NP_758516	Q99932	SPAG8_HUMAN	Homo sapiens sperm associated antigen 8 (SPAG8), transcript variant 2, mRNA.	406						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			GGTTGCTCCTGGCGGTAGTCG	0.607													T	35810291	G	T	35810291	3	4	5	1	0	0	0	0	1	0	0	0	15080	1357	47	4	500	4	SPAG8	9	35810291	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	136139	35810291	105403140	33	297											
MELK	9833	broad.mit.edu	37	chr9	36651764	36651764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagtatgatcacctcacgGctacctatcttctgcttcta	8	13	7	13	1	5	1	2	1	3	0	5	1	5	1	2	2	2	4	2	2	4	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:36651764G>T	uc003zzn.3	+	11	1081	c.943G>T	c.(943-945)Gct>Tct	p.A315S	MELK_uc011lpm.2_Missense_Mutation_p.A184S|MELK_uc011lpn.2_Missense_Mutation_p.A315S|MELK_uc011lpo.2_Missense_Mutation_p.A121S|MELK_uc010mll.3_Missense_Mutation_p.A283S|MELK_uc011lpp.2_Missense_Mutation_p.A267S|MELK_uc010mlm.3_Missense_Mutation_p.A244S|MELK_uc011lpr.2_Missense_Mutation_p.A244S|MELK_uc011lpq.2_Missense_Mutation_p.A121S|MELK_uc011lps.2_Missense_Mutation_p.A235S	NM_014791	NP_055606	Q14680	MELK_HUMAN	Homo sapiens maternal embryonic leucine zipper kinase (MELK), mRNA.	315						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			TCACCTCACGGCTACCTATCT	0.403													T	36651764	G	T	36651764	3	4	5	1	0	0	0	0	1	0	0	0	9545	1203	42	4	985	4	MELK	9	36651764	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	841473	36651764	104561667	34	298											
FAM75A2	642265	broad.mit.edu	37	chr9	39888189	39888189	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaactcgaaacagctGcccggacctcagaagttctc	12	6	11	12	2	2	2	1	0	1	2	4	6	2	4	2	2	4	2	2	2	3	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:39888189G>T	uc004abp.3	+	3	1205	c.1176G>T	c.(1174-1176)ctG>ctT	p.L392L		NM_001040065	NP_001035154	Q5RGS2	F75A2_HUMAN	Homo sapiens family with sequence similarity 75, member A2 (FAM75A2), mRNA.	392						integral to membrane				lung(4)|skin(1)|upper_aerodigestive_tract(1)	6				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGAAACAGCTGCCCGGACCTC	0.488													T	39888189	G	T	39888189	2	4	5	1	0	0	0	0	0	0	0	1	5670	1306	46	4		4	FAM75A2	9	39888189	Silent	SNP	G	TCGA-02-2470-01A-01D-1494-08	3236425	39888189	101325242	35	299											
SH2D3C	10044	broad.mit.edu	37	chr9	130502108	130502108	+	Frame_Shift_Del	DEL	C	C	-																															tggtggggccgagtcacactCcagcagggtgatgaggggca																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr9:130502108delC	uc004bsc.3	-	10	2402	c.2260delG	c.(2260-2262)gagfs	p.E754fs	SH2D3C_uc010mxo.3_Frame_Shift_Del_p.E594fs|SH2D3C_uc004bry.3_Frame_Shift_Del_p.E596fs|SH2D3C_uc004brz.4_Frame_Shift_Del_p.E400fs|SH2D3C_uc011mak.2_Frame_Shift_Del_p.E400fs|SH2D3C_uc004bsb.3_Frame_Shift_Del_p.E686fs|SH2D3C_uc004bsa.3_Frame_Shift_Del_p.E597fs	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	754	Ras-GEF.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GAGTCACACTCCAGCAGGGTG	0.657													-	130502108	C	-	130502108	7	5	5	1	0	1	0	1	0	0	0	0	14327	864	30	0	330	0	SH2D3C	9	130502108	Frame_Shift_Del	DEL	C	TCGA-02-2470-01A-01D-1494-08	90613919	130502108	10711323	36	300											
STAM	8027	broad.mit.edu	37	chr10	17735226	17735226	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttttttgttaggctgcAgaacaagcaaaagcaagccc	12	10	8	11	0	1	1	0	0	1	1	1	1	1	1	2	1	5	5	2	1	6	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:17735226A>G	uc001ipj.2	+	5	665	c.450A>G	c.(448-450)gcA>gcG	p.A150A	STAM_uc010qcf.2_Silent_p.A39A|STAM_uc009xjw.2_5'Flank	NM_003473	NP_003464	Q92783	STAM1_HUMAN	Homo sapiens signal transducing adaptor molecule (SH3 domain and ITAM motif) 1 (STAM), transcript variant 1, mRNA.	150					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						GTTAGGCTGCAGAACAAGCAA	0.408													G	17735226	A	G	17735226	2	3	5	1	0	0	0	0	0	0	0	1	15344	175	7	3		3	STAM	10	17735226	Silent	SNP	A	TCGA-02-2470-01A-01D-1494-08		17735226	117799521	37	301											
NEBL	10529	broad.mit.edu	37	chr10	21461321	21461321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatacttacgcattacaaTagggcttcttttcatagcct	12	14	5	10	1	2	0	1	0	1	0	2	0	2	0	1	1	4	2	1	1	7	8			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:21461321T>C	uc001iqk.3	-	1	509	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	NEBL_uc021pnu.1_Missense_Mutation_p.Y52C	NM_213569	NP_998734	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 2, mRNA.	714					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CGCATTACAATAGGGCTTCTT	0.438													C	21461321	T	C	21461321	3	2	5	1	0	0	0	0	1	0	0	0	10379	1406	49	3	3370	3	NEBL	10	21461321	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	3726095	21461321	114073426	38	302											
SVIL	6840	broad.mit.edu	37	chr10	29839574	29839574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaccaaaggaggggctcCgggaggctgcctgctgcagg	7	5	18	11	1	1	0	1	0	0	0	2	2	2	2	3	7	3	4	3	7	1	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:29839574C>T	uc001iut.1	-	5	1532	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	SVIL_uc001iuu.1_Missense_Mutation_p.R260Q|SVIL_uc009xld.1_Missense_Mutation_p.R260Q	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	260					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAGGGGCTCCGGGAGGCTGC	0.612													T	29839574	C	T	29839574	3	4	5	1	0	0	0	0	1	0	0	0	15517	652	23	1	5997	1	SVIL	10	29839574	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	8378253	29839574	105695173	39	303											
KIAA1462	57608	broad.mit.edu	37	chr10	30315760	30315760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggctggttctgtcccGctctccggatgcccggcagg	4	8	14	15	3	2	0	0	0	2	0	4	1	3	1	3	5	2	5	3	5	0	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:30315760G>A	uc009xle.2	-	2	3454	c.3317C>T	c.(3316-3318)gCg>gTg	p.A1106V	KIAA1462_uc001iux.3_Missense_Mutation_p.A1106V|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.A968V	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1106										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GTTCTGTCCCGCTCTCCGGAT	0.637													A	30315760	G	A	30315760	3	1	5	1	0	0	0	0	1	0	0	0	8292	1087	38	1	770	1	KIAA1462	10	30315760	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	476186	30315760	105218987	40	304											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	5	1	0	0	0	0	0	1	0	0	12823	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	59401912	89717672	45817075	41	305											
ANO3	63982	broad.mit.edu	37	chr11	26569054	26569054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaattgttggtttgtgcGttttcttctatggattattt	6	21	9	5	1	2	0	0	0	2	0	2	1	2	1	0	2	2	4	0	2	3	9			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:26569054G>A	uc001mqt.4	+	11	1391	c.1246G>A	c.(1246-1248)Gtt>Att	p.V416I	ANO3_uc010rdr.2_Missense_Mutation_p.V400I|ANO3_uc010rds.2_Missense_Mutation_p.V255I|ANO3_uc010rdt.2_Missense_Mutation_p.V270I	NM_031418	NP_113606	Q9BYT9	ANO3_HUMAN	Homo sapiens anoctamin 3 (ANO3), mRNA.	416						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGGTTTGTGCGTTTTCTTCTA	0.373													A	26569054	G	A	26569054	3	1	5	1	0	0	0	0	1	0	0	0	698	1145	40	1	1292	1	ANO3	11	26569054	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		26569054	108437462	42	306											
OR5D13	390142	broad.mit.edu	37	chr11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgatctgcaagtgggCgccagaaaactttctccacc	11	8	10	12	2	2	2	0	0	2	2	3	3	2	2	3	1	3	1	3	1	3	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:55541619C>T	uc010ril.2	+	0	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G235W(1)|p.R236H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408													T	55541619	C	T	55541619	3	4	5	1	0	0	0	0	1	0	0	0	11230	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	28972565	55541619	79464897	43	307											
OR10V1	390201	broad.mit.edu	37	chr11	59481032	59481032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgggtgccacatcccGtgatggaaacaggagttttg	10	10	12	9	1	1	1	0	1	1	0	2	3	2	3	2	3	2	1	2	3	1	2	rs144835634		TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:59481032G>A	uc001nof.1	-	0	287	c.287C>T	c.(286-288)aCg>aTg	p.T96M		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						GCCACATCCCGTGATGGAAAC	0.473													A	59481032	G	A	59481032	3	1	5	1	0	0	0	0	1	0	0	0	10996	1145	40	1	646	1	OR10V1	11	59481032	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	3939413	59481032	75525484	44	308											
CAPN1	823	broad.mit.edu	37	chr11	64953733	64953733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccgagtggtacgagttgcGcaaggctcccagtgacctct	8	9	12	12	3	1	1	0	1	1	0	2	3	2	1	3	2	3	4	3	2	3	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:64953733G>A	uc009yqd.2	+	5	880	c.683G>A	c.(682-684)cGc>cAc	p.R228H	CAPN1_uc001odf.2_Missense_Mutation_p.R228H|CAPN1_uc001odg.2_Missense_Mutation_p.R228H|CAPN1_uc010roa.2_5'UTR	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	228	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding	p.R228H(2)		breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TACGAGTTGCGCAAGGCTCCC	0.637													A	64953733	G	A	64953733	3	1	5	1	0	0	0	0	1	0	0	0	2648	1087	38	1	701	1	CAPN1	11	64953733	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	5472701	64953733	70052783	45	309											
TMEM123	114908	broad.mit.edu	37	chr11	102272678	102272678	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcagcagatgtcactgaActattgtgggttacggtcat	11	11	12	7	1	2	2	2	1	0	1	2	3	2	2	0	2	4	3	0	2	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr11:102272678A>G	uc001pha.3	-	2	838	c.417T>C	c.(415-417)agT>agC	p.S139S	TMEM123_uc009yxc.3_Silent_p.S120S	NM_052932	NP_443164	Q8N131	PORIM_HUMAN	Homo sapiens transmembrane protein 123 (TMEM123), mRNA.	139	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		ATGTCACTGAACTATTGTGGG	0.363													G	102272678	A	G	102272678	2	3	5	1	0	0	0	0	0	0	0	1	16136	40	2	3		3	TMEM123	11	102272678	Silent	SNP	A	TCGA-02-2470-01A-01D-1494-08	37318945	102272678	32733838	46	310											
RAPGEF3	10411	broad.mit.edu	37	chr12	48143197	48143197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatacggttgaagtcctgCttgtccacacgcaggaaatg	11	10	11	9	2	0	2	0	2	0	0	2	3	2	3	2	2	2	3	2	2	3	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:48143197C>A	uc001rpz.4	-	9	1567	c.1017G>T	c.(1015-1017)aaG>aaT	p.K339N	RAPGEF3_uc010sln.2_5'Flank|RAPGEF3_uc001rpy.3_5'Flank|RAPGEF3_uc009zkp.3_Missense_Mutation_p.K297N|RAPGEF3_uc009zkq.3_Missense_Mutation_p.K297N|RAPGEF3_uc001rqa.3_5'Flank|RAPGEF3_uc009zkr.2_Non-coding_Transcript|RAPGEF3_uc009zks.2_Missense_Mutation_p.K351N|RAPGEF3_uc001rqb.3_Missense_Mutation_p.K339N	NM_001098531	NP_006096	A8K2G5	A8K2G5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 3 (RAPGEF3), transcript variant 1, mRNA.	297					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		TGAAGTCCTGCTTGTCCACAC	0.562													A	48143197	C	A	48143197	3	1	5	1	0	0	0	0	1	0	0	0	13133	796	28	4	1830	4	RAPGEF3	12	48143197	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		48143197	85708698	47	311											
SRRM4	84530	broad.mit.edu	37	chr12	119588965	119588965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccagtcactcgtcccgatCcccaaatcccagggcttccc	7	8	6	20	2	1	0	1	0	0	0	7	1	6	0	6	1	0	1	6	1	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:119588965C>G	uc001txa.2	+	9	1608	c.1220C>G	c.(1219-1221)tCc>tGc	p.S407C		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	407	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						TCGTCCCGATCCCCAAATCCC	0.572													G	119588965	C	G	119588965	3	3	5	1	0	0	0	0	1	0	0	0	15267	855	30	4	1258	4	SRRM4	12	119588965	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	71445768	119588965	14262930	48	312											
RIMBP2	23504	broad.mit.edu	37	chr12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagaagtctggagaaaggCggtctcgcccgtaatcgtct	10	9	12	10	4	3	2	0	0	3	2	5	3	3	2	1	3	0	1	1	3	4	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr12:130898833C>T	uc001uil.2	-	13	2705	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	830						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572													T	130898833	C	T	130898833	3	4	5	1	0	0	0	0	1	0	0	0	13452	768	27	1	693	1	RIMBP2	12	130898833	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	11309868	130898833	2953062	49	313											
FGF14	2259	broad.mit.edu	37	chr13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtgcttttacttggcGtcaccccaggcttcgggacc	5	12	10	14	2	1	0	1	0	0	0	2	1	1	1	3	3	2	2	3	3	1	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr13:102375254G>A	uc001vpf.2	-	4	782	c.686C>T	c.(685-687)aCg>aTg	p.T229M	FGF14_uc001vpe.2_Missense_Mutation_p.T224M	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T229M(2)|p.T224M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473													A	102375254	G	A	102375254	3	1	5	1	0	0	0	0	1	0	0	0	5892	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		102375254	12794624	50	314											
C14orf39	317761	broad.mit.edu	37	chr14	60951623	60951623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattctttgaatcatctcttCtttagtacttatgtcttgct	8	21	4	8	0	5	1	1	1	4	0	6	1	5	1	0	0	2	2	0	0	5	8			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:60951623C>T	uc001xez.4	-	2	192	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	C14orf39_uc010apo.3_5'UTR	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	28										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATCATCTCTTCTTTAGTACTT	0.264													T	60951623	C	T	60951623	3	4	5	1	0	0	0	0	1	0	0	0	1785	922	32	2	1745	2	C14orf39	14	60951623	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		60951623	46397917	51	315											
DLK1	8788	broad.mit.edu	37	chr14	101201218	101201218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcagcaaggaggccggCgacgaggagatctaagcagc	12	4	14	11	3	2	1	1	0	1	1	2	5	2	2	2	4	3	2	2	4	2	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:101201218C>T	uc001yhs.4	+	4	1341	c.1137C>T	c.(1135-1137)ggC>ggT	p.G379G	DLK1_uc001yhu.4_Silent_p.G306G|DLK1_uc021sbs.1_Silent_p.G91G	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	379					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGAGGCCGGCGACGAGGAGA	0.552													T	101201218	C	T	101201218	2	4	5	1	0	0	0	0	0	0	0	1	4603	755	27	1		1	DLK1	14	101201218	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	40249595	101201218	6148322	52	316											
TDRD9	122402	broad.mit.edu	37	chr14	104508512	104508512	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcaagacattgcccgtcAgaagcttttagggtaagctg	10	11	11	9	1	2	2	2	0	0	2	2	2	2	2	1	1	3	4	1	1	4	5			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr14:104508512A>C	uc001yom.4	+	33	3992	c.3962A>C	c.(3961-3963)cAg>cCg	p.Q1321P	TDRD9_uc001yon.4_Missense_Mutation_p.Q868P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1321					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				ATTGCCCGTCAGAAGCTTTTA	0.478													C	104508512	A	C	104508512	3	2	5	1	0	0	0	0	1	0	0	0	15836	188	7	5	4096	5	TDRD9	14	104508512	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08	3307294	104508512	2841028	53	317											
TGM5	9333	broad.mit.edu	37	chr15	43552356	43552356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggtaccgacccacggcCgccgtgggaggagcgcacaa	11	2	15	13	5	0	1	0	0	0	1	0	4	0	3	4	4	2	2	4	4	3	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:43552356C>T	uc001zrd.2	-	2	338	c.330G>A	c.(328-330)gcG>gcA	p.A110A	TGM5_uc001zre.2_Intron	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	110					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.A110A(2)		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)	GACCCACGGCCGCCGTGGGAG	0.617													T	43552356	C	T	43552356	2	4	5	1	0	0	0	0	0	0	0	1	15933	639	23	1		1	TGM5	15	43552356	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		43552356	58979036	54	318											
DET1	55070	broad.mit.edu	37	chr15	89056199	89056199	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctacgtgcagcagtgtcGcatatggaagttgacaacat	12	9	10	10	2	0	1	0	1	0	0	1	2	0	2	1	1	4	4	1	1	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89056199G>A	uc002bmq.2	-	5	1858	c.1669C>T	c.(1669-1671)Cga>Tga	p.R557*	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Nonsense_Mutation_p.R546*|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	546						nucleus		p.R557Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CAGCAGTGTCGCATATGGAAG	0.498													A	89056199	G	A	89056199	4	1	5	1	0	0	0	0	0	1	0	0	4489	1095	38	1	20	1	DET1	15	89056199	Nonsense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	45503843	89056199	13475193	55	319											
DET1	55070	broad.mit.edu	37	chr15	89073948	89073948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagctgcattttccacattCgcagctgccgcagttggtca	8	11	10	12	2	1	0	1	0	0	0	3	1	2	0	2	1	4	6	2	1	1	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr15:89073948C>T	uc002bmq.2	-	2	1211	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.R330Q|DET1_uc010bnk.2_Non-coding_Transcript	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	330						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			TTTCCACATTCGCAGCTGCCG	0.493													T	89073948	C	T	89073948	3	4	5	1	0	0	0	0	1	0	0	0	4489	884	31	1	679	1	DET1	15	89073948	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	17749	89073948	13457444	56	320											
ITGAX	3687	broad.mit.edu	37	chr16	31368588	31368588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcctgcggccccacCgtgcaccacgagtgcgggag	6	3	14	18	4	0	0	0	0	0	0	0	2	0	1	7	3	3	1	7	3	0	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:31368588C>T	uc002ebt.3	+	4	400	c.333C>T	c.(331-333)acC>acT	p.T111T	ITGAX_uc010cao.1_3'UTR|ITGAX_uc002ebu.1_Silent_p.T111T	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	111					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GCGGCCCCACCGTGCACCACG	0.687													T	31368588	C	T	31368588	2	4	5	1	0	0	0	0	0	0	0	1	7947	639	23	1		1	ITGAX	16	31368588	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		31368588	58986165	57	321											
CCDC135	84229	broad.mit.edu	37	chr16	57760043	57760043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggacgtggcagagcgcGtgtttctggtcgcggaggag	7	7	20	7	5	1	1	0	0	1	1	2	5	1	5	0	6	1	2	0	6	0	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr16:57760043G>A	uc002emi.3	+	12	1911	c.1822G>A	c.(1822-1824)Gtg>Atg	p.V608M	CCDC135_uc002emj.3_Missense_Mutation_p.V608M|CCDC135_uc002emk.3_Missense_Mutation_p.V543M	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	608						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGCAGAGCGCGTGTTTCTGGT	0.627													A	57760043	G	A	57760043	3	1	5	1	0	0	0	0	1	0	0	0	2795	1145	40	1	1868	1	CCDC135	16	57760043	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	26391455	57760043	32594710	58	322											
DLG4	1742	broad.mit.edu	37	chr17	7121951	7121951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaggagccagagggctgaCctgggagctagtgagatgca	10	5	17	9	0	0	3	0	2	0	2	0	6	0	5	3	3	3	3	3	3	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:7121951C>G	uc002get.4	-	1	1228	c.27G>C	c.(25-27)agG>agC	p.R9S	DLG4_uc010cly.3_5'Flank|DLG4_uc010vto.2_Missense_Mutation_p.R9S|DLG4_uc002geu.3_5'Flank|ACADVL_uc010vtp.2_Intron|ACADVL_uc010vtq.1_5'Flank|ACADVL_uc002gev.3_5'Flank|ACADVL_uc002gew.3_5'Flank|ACADVL_uc002gex.3_5'Flank	NM_001365	NP_001356	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 1, mRNA.	0					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AGAGGGCTGACCTGGGAGCTA	0.592													G	7121951	C	G	7121951	3	3	5	1	0	0	0	0	1	0	0	0	4596	506	18	4	2394	4	DLG4	17	7121951	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08		7121951	74073259	59	323											
C17orf102	400591	broad.mit.edu	37	chr17	32905952	32905952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagcaacagaataaatagGtttcccacagctgcgccccg	12	6	8	15	2	0	1	0	0	0	1	1	1	1	1	4	1	4	3	4	1	5	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:32905952G>T	uc002hie.1	-	0	437	c.348C>A	c.(346-348)aaC>aaA	p.N116K	TMEM132E_uc002hif.3_5'Flank	NM_207454	NP_997337	A2RUQ5	CQ102_HUMAN	Homo sapiens chromosome 17 open reading frame 102 (C17orf102), mRNA.	116										central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(3)|ovary(1)	9						GAATAAATAGGTTTCCCACAG	0.607													T	32905952	G	T	32905952	3	4	5	1	0	0	0	0	1	0	0	0	1863	1252	44	4	163	4	C17orf102	17	32905952	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	25784001	32905952	48289258	60	324											
GGNBP2	79893	broad.mit.edu	37	chr17	34943625	34943625	+	Frame_Shift_Del	DEL	T	T	-																															ttgcagaacctacagaaacgTtgtttggtcccgattccgga																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr17:34943625delT	uc002hnb.3	+	12	2156	c.1840delT	c.(1840-1842)ttgfs	p.L614fs		NM_024835	NP_079111	Q9H3C7	GGNB2_HUMAN	Homo sapiens gametogenetin binding protein 2 (GGNBP2), mRNA.	614					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle		p.T613T(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		TACAGAAACGTTGTTTGGTCC	0.463													-	34943625	T	-	34943625	7	5	5	1	0	1	0	1	0	0	0	0	6415	1722	60	0	1886	0	GGNBP2	17	34943625	Frame_Shift_Del	DEL	T	TCGA-02-2470-01A-01D-1494-08	2037673	34943625	46251585	61	325											
CTAGE1	64693	broad.mit.edu	37	chr18	19995570	19995570	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggggaaaaatgcaggTcttgggggacggtaaggaag	11	6	20	4	1	1	0	0	0	1	0	1	3	1	3	0	8	1	3	0	8	4	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:19995570T>A	uc002ktv.1	-	0	2309	c.2205A>T	c.(2203-2205)agA>agT	p.R735S		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	735	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AAAATGCAGGTCTTGGGGGAC	0.483													A	19995570	T	A	19995570	3	1	5	1	0	0	0	0	1	0	0	0	4025	1664	58	5	36	5	CTAGE1	18	19995570	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08		19995570	58081678	62	326											
TCEB3B	51224	broad.mit.edu	37	chr18	44560403	44560403	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggattcgtttgctttcctTtgtttatctccaagtgcagt	5	20	8	8	1	1	0	0	0	1	0	4	1	2	1	2	1	2	4	2	1	2	7			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:44560403T>C	uc002lcr.1	-	0	1586	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_016427	NP_057511	Q8IYF1	ELOA2_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3B (elongin A2) (TCEB3B), mRNA.	411					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTGCTTTCCTTTGTTTATCTC	0.502													C	44560403	T	C	44560403	2	2	5	1	0	0	0	0	0	0	0	1	15782	1838	64	3		3	TCEB3B	18	44560403	Silent	SNP	T	TCGA-02-2470-01A-01D-1494-08	24564833	44560403	33516845	63	327											
MALT1	10892	broad.mit.edu	37	chr18	56400716	56400716	+	Frame_Shift_Del	DEL	A	A	-																															tccaaatccatataggtctgAaaattgtctgtgtgtacaaa																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:56400716delA	uc002lhm.1	+	10	1568	c.1310delA	c.(1309-1311)gaafs	p.E437fs	MALT1_uc002lhn.1_Frame_Shift_Del_p.E426fs	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	437	Caspase-like.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						TATAGGTCTGAAAATTGTCTG	0.348			T	BIRC3	MALT								-	56400716	A	-	56400716	7	5	5	1	0	1	0	1	0	0	0	0	9277	246	9	0	1352	0	MALT1	18	56400716	Frame_Shift_Del	DEL	A	TCGA-02-2470-01A-01D-1494-08	11840313	56400716	21676532	64	328											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60025550	60025550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgccttttcctccaCggacaaatgcagaccctgga	9	10	8	14	1	1	2	0	1	1	1	3	4	3	4	4	2	2	1	4	2	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr18:60025550C>T	uc002lin.3	+	4	535	c.497C>T	c.(496-498)aCg>aTg	p.T166M	TNFRSF11A_uc010dpv.3_Missense_Mutation_p.T166M	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	166					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTTCCTCCACGGACAAATGC	0.448													T	60025550	C	T	60025550	3	4	5	1	0	0	0	0	1	0	0	0	16384	536	19	1	515	1	TNFRSF11A	18	60025550	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	3624834	60025550	18051698	65	329											
TJP3	27134	broad.mit.edu	37	chr19	3730053	3730053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccacatcgtcatggtgaaCggggtttccatggagaatgc	10	9	13	9	2	1	2	1	1	0	1	3	4	2	2	2	4	2	1	2	4	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3730053C>T	uc010xhv.2	+	2	243	c.243C>T	c.(241-243)aaC>aaT	p.N81N	TJP3_uc010xhs.2_Silent_p.N62N|TJP3_uc010xht.2_Silent_p.N26N|TJP3_uc010xhu.2_Silent_p.N71N|TJP3_uc010xhw.2_Silent_p.N81N	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	62	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TCATGGTGAACGGGGTTTCCA	0.597													T	3730053	C	T	3730053	2	4	5	1	0	0	0	0	0	0	0	1	16031	535	19	1		1	TJP3	19	3730053	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08		3730053	55398930	66	330											
MATK	4145	broad.mit.edu	37	chr19	3783147	3783147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccagctcctcctcggccGacttggtcccgtgtttccgc	2	11	11	17	4	0	0	0	0	0	0	5	1	4	0	6	3	1	2	6	3	0	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:3783147G>A	uc002lyt.3	-	6	1053	c.653C>T	c.(652-654)tCg>tTg	p.S218L	MATK_uc002lyv.3_Missense_Mutation_p.S219L|MATK_uc002lyu.3_Missense_Mutation_p.S177L|MATK_uc010dtq.3_Missense_Mutation_p.S218L	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	218					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGGCCGACTTGGTCCC	0.657													A	3783147	G	A	3783147	3	1	5	1	0	0	0	0	1	0	0	0	9407	1059	37	1	902	1	MATK	19	3783147	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	53094	3783147	55345836	67	331											
NFIX	4784	broad.mit.edu	37	chr19	13192662	13192662	+	Frame_Shift_Del	DEL	C	C	-																															ggatggctcgggccaggccaCcggacaggtgagtccagagg																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:13192662delC	uc010xmx.2	+	7	1324	c.1271delC	c.(1270-1272)accfs	p.T424fs	NFIX_uc002mwd.3_Frame_Shift_Del_p.T416fs|NFIX_uc002mwe.3_Frame_Shift_Del_p.T408fs|NFIX_uc002mwf.3_Frame_Shift_Del_p.T378fs|NFIX_uc002mwg.2_Frame_Shift_Del_p.T415fs			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	416					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGCCAGGCCACCGGACAGGTG	0.612											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	13192662	C	-	13192662	7	5	5	1	0	1	0	1	0	0	0	0	10450	507	18	0	1277	0	NFIX	19	13192662	Frame_Shift_Del	DEL	C	TCGA-02-2470-01A-01D-1494-08	9409515	13192662	45936321	68	332											
NPHS1	4868	broad.mit.edu	37	chr19	36340038	36340038	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccacgctgtggacacCggctggccattctggagaca	7	7	13	14	2	1	1	0	0	1	1	1	3	1	2	4	4	1	2	4	4	0	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:36340038C>T	uc002oby.3	-	7	1008	c.852G>A	c.(850-852)ccG>ccA	p.P284P		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	284	Ig-like C2-type 3.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTGTGGACACCGGCTGGCCAT	0.677													T	36340038	C	T	36340038	2	4	5	1	0	0	0	0	0	0	0	1	10658	639	23	1		1	NPHS1	19	36340038	Silent	SNP	C	TCGA-02-2470-01A-01D-1494-08	23147376	36340038	22788945	69	333											
ZNF526	116115	broad.mit.edu	37	chr19	42730344	42730344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcagcgggtccatgccCgagctcggactttgacgcta	7	9	12	13	4	1	1	1	1	0	0	3	3	2	2	2	2	4	3	2	2	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:42730344C>G	uc002osz.1	+	2	1945	c.1789C>G	c.(1789-1791)Cga>Gga	p.R597G	ZNF526_uc021uvc.1_Missense_Mutation_p.R597G	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GGTCCATGCCCGAGCTCGGAC	0.612													G	42730344	C	G	42730344	3	3	5	1	0	0	0	0	1	0	0	0	18068	644	23	4	1791	4	ZNF526	19	42730344	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	6390306	42730344	16398639	70	334											
ZNF667	63934	broad.mit.edu	37	chr19	56953854	56953859	+	In_Frame_Del	DEL	CTTCTC	CTTCTC	-																															caattactgcattcaaaaggCttctctcctgtatgaatgtt																										TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:56953854_56953859delCTTCTC	uc002qne.3	-	6	1296_1301	c.505_510delGAGAAG	c.(505-510)gagaagdel	p.EK169del	ZNF667_uc010etl.3_5'UTR|ZNF667_uc002qnd.3_In_Frame_Del_p.EK169del|ZNF667_uc010etm.3_In_Frame_Del_p.EK112del	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		ATTCAAAAGGCTTCTCTCCTGTATGA	0.374													-	56953859	CTTCTC	-	56953854	7	5	5	1	0	1	0	1	0	0	0	0	18175	796	28	0	1326	0	ZNF667	19	56953854	In_Frame_Del	DEL	CTTCTC	TCGA-02-2470-01A-01D-1494-08	14223510	56953854	2175129	71	335											
ZNF606	80095	broad.mit.edu	37	chr19	58490980	58490980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgttccataaaggatgaGaaataaaagatattctcata	18	12	7	4	0	1	3	1	2	1	2	3	5	2	4	1	1	0	1	1	1	7	6			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr19:58490980G>C	uc002qqw.3	-	6	1686	c.1068C>G	c.(1066-1068)ttC>ttG	p.F356L	ZNF606_uc010yhp.2_Missense_Mutation_p.F266L	NM_025027	NP_079303	Q8WXB4	ZN606_HUMAN	Homo sapiens zinc finger protein 606 (ZNF606), mRNA.	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TAAAGGATGAGAAATAAAAGA	0.333													C	58490980	G	C	58490980	3	2	5	1	0	0	0	0	1	0	0	0	18133	933	33	4	1314	4	ZNF606	19	58490980	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	1537126	58490980	638003	72	336											
PLCB4	5332	broad.mit.edu	37	chr20	9417712	9417712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggaaaggccaacaccGccaaagcaaatgtgacccct	17	3	9	12	1	0	2	0	1	0	1	0	3	0	3	5	2	2	1	5	2	5	0			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:9417712G>A	uc021wam.1	+	25	2656	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	PLCB4_uc010gbw.1_Missense_Mutation_p.A881T|PLCB4_uc010gbx.3_Missense_Mutation_p.A893T|PLCB4_uc021wal.1_Missense_Mutation_p.A881T|PLCB4_uc002wnh.3_Missense_Mutation_p.A728T	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	881					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGCCAACACCGCCAAAGCAAA	0.512													A	9417712	G	A	9417712	3	1	5	1	0	0	0	0	1	0	0	0	12107	1087	38	1	2783	1	PLCB4	20	9417712	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		9417712	53607808	73	337											
KIF16B	55614	broad.mit.edu	37	chr20	16506810	16506810	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcataggtgaaggtcttgGtccgttctcttcctgagtcc	6	14	11	10	1	3	2	1	2	2	0	7	2	6	2	3	3	0	1	3	3	2	4			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:16506810G>C	uc002wpg.2	-	2	317	c.158C>G	c.(157-159)aCc>aGc	p.T53S	KIF16B_uc010gch.2_Missense_Mutation_p.T53S|KIF16B_uc010gci.2_Missense_Mutation_p.T53S|KIF16B_uc010gcj.2_Missense_Mutation_p.T53S	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	53	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.R52L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAAGGTCTTGGTCCGTTCTCT	0.353													C	16506810	G	C	16506810	3	2	5	1	0	0	0	0	1	0	0	0	8336	1261	44	4	3891	4	KIF16B	20	16506810	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08	7089098	16506810	46518710	74	338											
SSTR4	6754	broad.mit.edu	37	chr20	23016581	23016581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgcaccctctgcgcgCggcgacctaccggcggccca	4	5	14	18	7	1	0	0	0	1	0	1	1	1	0	4	4	3	1	4	4	1	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:23016581C>T	uc002wsr.2	+	0	525	c.461C>T	c.(460-462)gCg>gTg	p.A154V		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	154					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCTCTGCGCGCGGCGACCTAC	0.662													T	23016581	C	T	23016581	3	4	5	1	0	0	0	0	1	0	0	0	15296	768	27	1	463	1	SSTR4	20	23016581	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	6509771	23016581	40008939	75	339											
PPP1R16B	26051	broad.mit.edu	37	chr20	37534721	37534721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggagcccctgcatgcagCtgccttctggggacaggtag	6	8	15	12	0	1	0	0	0	1	0	1	2	1	2	3	4	5	4	3	4	1	2			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr20:37534721C>T	uc002xje.3	+	6	995	c.806C>T	c.(805-807)gCt>gTt	p.A269V	PPP1R16B_uc010ggc.3_Intron	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	269					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CTGCATGCAGCTGCCTTCTGG	0.607													T	37534721	C	T	37534721	3	4	5	1	0	0	0	0	1	0	0	0	12448	797	28	2	828	2	PPP1R16B	20	37534721	Missense_Mutation	SNP	C	TCGA-02-2470-01A-01D-1494-08	14518140	37534721	25490799	76	340											
MX2	4600	broad.mit.edu	37	chr21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagtatcgaggcaaggAgcttctgggatttgtcaact	12	10	12	7	1	2	0	1	0	1	0	3	3	2	2	0	3	3	4	0	3	4	3			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chr21:42773954A>G	uc002yzf.1	+	10	1576	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_uc002yzg.1_Missense_Mutation_p.E214G|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	491					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433													G	42773954	A	G	42773954	3	3	5	1	0	0	0	0	1	0	0	0	10074	304	11	3	1510	3	MX2	21	42773954	Missense_Mutation	SNP	A	TCGA-02-2470-01A-01D-1494-08		42773954	5355941	77	341											
MAGEB18	286514	broad.mit.edu	37	chrX	26157158	26157158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagaaacgccaccaggctcGttgtgagaatcaggatctgg	11	8	13	9	2	2	2	1	2	1	2	3	5	2	3	2	3	1	2	2	3	2	1			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:26157158G>A	uc022bub.1	+	0	56	c.56G>A	c.(55-57)cGt>cAt	p.R19H	MAGEB18_uc004dbq.2_Missense_Mutation_p.R19H	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	19							protein binding	p.R19H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						CACCAGGCTCGTTGTGAGAAT	0.532													A	26157158	G	A	26157158	3	1	5	1	0	0	0	0	1	0	0	0	9250	1145	40	1	58	1	MAGEB18	23	26157158	Missense_Mutation	SNP	G	TCGA-02-2470-01A-01D-1494-08		26157158	129113402	78	342											
CXorf48	54967	broad.mit.edu	37	chrX	134294392	134294392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaatataaatattatctTcatttatagaagtaacacat	18	16	2	5	0	2	1	1	0	1	1	2	1	2	1	0	0	2	1	0	0	11	11			TCGA-02-2470-01A-01D-1494-08	TCGA-02-2470-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0b35f2ff-2a08-4585-a1a9-cfc6a9f5b224	1ab37cba-6ad6-4825-98bb-b8e102f64ed2	g.chrX:134294392T>C	uc004eyk.1	-	2	1024	c.368A>G	c.(367-369)gAa>gGa	p.E123G	CXorf48_uc004eyl.1_Missense_Mutation_p.E123G	NM_001031705	NP_001026875	Q8WUE5	CX048_HUMAN	Homo sapiens chromosome X open reading frame 48 (CXorf48), transcript variant 1, mRNA.	123										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					AATATTATCTTCATTTATAGA	0.308													C	134294392	T	C	134294392	3	2	5	1	0	0	0	0	1	0	0	0	4144	1783	62	3	446	3	CXorf48	23	134294392	Missense_Mutation	SNP	T	TCGA-02-2470-01A-01D-1494-08	108137234	134294392	20976168	79	343											
PHACTR4	65979	broad.mit.edu	37	chr1	28800112	28800112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacattgttatcaaaaccGtccccacccttaccacctaa	12	10	4	15	1	1	0	1	0	0	0	2	0	2	0	6	1	3	2	6	1	6	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:28800112G>A	uc001bpy.3	+	5	1135	c.900G>A	c.(898-900)ccG>ccA	p.P300P	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Silent_p.P290P|PHACTR4_uc001bpx.3_Silent_p.P274P	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	290	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TATCAAAACCGTCCCCACCCT	0.463													A	28800112	G	A	28800112	2	1	6	1	0	0	0	0	0	0	0	1	11889	1132	40	1		1	PHACTR4	1	28800112	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		28800112	220450509	1	344											
C1orf141	400757	broad.mit.edu	37	chr1	67561965	67561965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaccttctaagagaccaAcagaatccaatggtttccta	14	11	5	11	0	2	2	1	0	1	2	4	3	4	2	4	1	1	1	4	1	6	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:67561965A>G	uc001ddl.1	-	4	497	c.386T>C	c.(385-387)gTt>gCt	p.V129A	C1orf141_uc001ddm.1_Missense_Mutation_p.V129A|C1orf141_uc001ddn.1_Non-coding_Transcript	NM_001013674	NP_001013696	Q5JVX7	CA141_HUMAN	Homo sapiens chromosome 1 open reading frame 141 (C1orf141), mRNA.	129										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|skin(1)	18						TAAGAGACCAACAGAATCCAA	0.259													G	67561965	A	G	67561965	3	3	6	1	0	0	0	0	1	0	0	0	2021	43	2	3	828	3	C1orf141	1	67561965	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	38761853	67561965	181688656	2	345											
WDR63	126820	broad.mit.edu	37	chr1	85551548	85551548	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcgaaaacgaagtgaatTtggtgcaccaattaagttca	14	12	8	7	2	2	1	1	1	1	0	3	3	2	1	1	1	2	2	1	1	6	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:85551548T>A	uc001dkt.3	+	6	766	c.575T>A	c.(574-576)tTt>tAt	p.F192Y	WDR63_uc009wcl.3_Missense_Mutation_p.F192Y	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	192										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		CGAAGTGAATTTGGTGCACCA	0.353													A	85551548	T	A	85551548	3	1	6	1	0	0	0	0	1	0	0	0	17416	1841	64	5	597	5	WDR63	1	85551548	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	17989583	85551548	163699073	3	346											
PGLYRP4	57115	broad.mit.edu	37	chr1	153313050	153313050	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaccgtgggacaacgccggGgcaagctgaggtggggcgag	9	3	20	9	4	0	2	0	1	0	1	0	4	0	3	2	6	2	2	2	6	2	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:153313050G>C	uc001fbo.3	-	6	696	c.631C>G	c.(631-633)Ccc>Gcc	p.P211A	PGLYRP4_uc001fbp.3_Missense_Mutation_p.P207A	NM_020393	NP_065126	Q96LB8	PGRP4_HUMAN	Homo sapiens peptidoglycan recognition protein 4 (PGLYRP4), mRNA.	211					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACAACGCCGGGGCAAGCTGAG	0.587													C	153313050	G	C	153313050	3	2	6	1	0	0	0	0	1	0	0	0	11873	1232	43	4	502	4	PGLYRP4	1	153313050	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	67761502	153313050	95937571	4	347											
KIFAP3	22920	broad.mit.edu	37	chr1	169951166	169951166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatttggctagcaatgcaGcacaagagtcatccatggat	13	9	10	9	0	1	2	1	0	0	2	2	3	2	3	1	2	3	4	1	2	3	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr1:169951166G>A	uc001ggv.3	-	14	2016	c.1745C>T	c.(1744-1746)gCt>gTt	p.A582V	KIFAP3_uc021pep.1_Missense_Mutation_p.A542V|KIFAP3_uc010ply.2_Missense_Mutation_p.A504V|KIFAP3_uc001ggw.2_Missense_Mutation_p.A538V|KIFAP3_uc010plx.2_Missense_Mutation_p.A284V	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	582					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.A582V(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAGCAATGCAGCACAAGAGTC	0.343													A	169951166	G	A	169951166	3	1	6	1	0	0	0	0	1	0	0	0	8369	971	34	2	657	2	KIFAP3	1	169951166	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	16638116	169951166	79299455	5	348											
APOB	338	broad.mit.edu	37	chr2	21230155	21230155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgctctgactgataaaCtcacaaagcacagccaaagg	15	8	8	10	0	2	3	1	3	1	0	2	3	2	3	1	1	4	2	1	1	4	2	rs141840973		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21230155C>G	uc002red.3	-	25	9713	c.9585G>C	c.(9583-9585)gaG>gaC	p.E3195D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3195	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.E3195Q(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACTGATAAACTCACAAAGCA	0.323													G	21230155	C	G	21230155	3	3	6	1	0	0	0	0	1	0	0	0	788	564	20	4	4122	4	APOB	2	21230155	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08		21230155	221969218	6	349											
APOB	338	broad.mit.edu	37	chr2	21246441	21246441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttggctccgggagcaaTgactccagatgaagatattt	11	10	11	9	1	0	4	0	2	0	2	2	5	2	5	3	2	2	2	3	2	3	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:21246441T>C	uc002red.3	-	16	2688	c.2560A>G	c.(2560-2562)Att>Gtt	p.I854V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	854					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCGGGAGCAATGACTCCAGAT	0.423													C	21246441	T	C	21246441	3	2	6	1	0	0	0	0	1	0	0	0	788	1464	51	3	11183	3	APOB	2	21246441	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	16286	21246441	221952932	7	350											
SPTBN1	6711	broad.mit.edu	37	chr2	54857158	54857158	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccagcaggacaaactCaacacaaggtgagcacgtgg	16	3	11	11	1	1	1	1	1	0	0	1	2	1	2	1	3	5	2	1	3	4	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:54857158C>A	uc002rxu.3	+	14	3048	c.2799C>A	c.(2797-2799)ctC>ctA	p.L933L	SPTBN1_uc002rxx.3_Silent_p.L920L	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	933					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGGACAAACTCAACACAAGGT	0.582													A	54857158	C	A	54857158	2	1	6	1	0	0	0	0	0	0	0	1	15215	813	29	4		4	SPTBN1	2	54857158	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	33610717	54857158	188342215	8	351											
WDR33	55339	broad.mit.edu	37	chr2	128471476	128471476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcctatcagggggaccccTgcagtcctggccaccccgga	7	5	12	17	2	1	0	1	0	0	0	2	2	2	2	7	4	1	1	7	4	1	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:128471476T>C	uc002tpg.2	-	17	3188	c.2989A>G	c.(2989-2991)Agg>Ggg	p.R997G		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	997					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)		GGGGGACCCCTGCAGTCCTGG	0.647													C	128471476	T	C	128471476	3	2	6	1	0	0	0	0	1	0	0	0	17389	1579	55	3	1041	3	WDR33	2	128471476	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	73614318	128471476	114727897	9	352											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	6	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	80641636	209113112	34086261	10	353											
CHL1	10752	broad.mit.edu	37	chr3	367748	367748	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaatccagaaccaacGtgagtattgtttcaaacgaa	18	8	8	7	2	1	2	1	1	0	1	2	4	2	3	2	1	3	2	2	1	7	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:367748G>A	uc003bot.3	+	4	839	c.197_splice	c.e4+1	p.T66_splice	CHL1_uc003bou.3_Splice_Site_p.T66_splice|CHL1_uc003bow.2_Splice_Site_p.T66_splice|CHL1_uc011asi.2_Splice_Site_p.T66_splice	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	66	Ig-like C2-type 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAGAACCAACGTGAGTATTGT	0.393													A	367748	G	A	367748	5	1	6	1	0	0	0	0	0	0	1	0	3379	1159	40	1	204	1	CHL1	3	367748	Splice_Site	SNP	G	TCGA-02-2483-01A-01D-1494-08		367748	197654682	11	354											
ATP2B2	491	broad.mit.edu	37	chr3	10491052	10491052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaggtgaggttttgaggCgccggcagatggcttcggtg	7	9	17	8	3	0	3	0	2	0	1	1	3	0	3	1	6	1	3	1	6	1	3	rs149328739		TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:10491052C>T	uc003bvt.3	-	1	615	c.176G>A	c.(175-177)cGc>cAc	p.R59H	ATP2B2_uc003bvv.3_Missense_Mutation_p.R59H|ATP2B2_uc003bvw.3_Missense_Mutation_p.R59H|ATP2B2_uc010hdp.2_Missense_Mutation_p.R59H	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	59					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.R59C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGTTTTGAGGCGCCGGCAGAT	0.562													T	10491052	C	T	10491052	3	4	6	1	0	0	0	0	1	0	0	0	1145	768	27	1	3643	1	ATP2B2	3	10491052	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	10123304	10491052	187531378	12	355											
ZNF385D	79750	broad.mit.edu	37	chr3	21706493	21706493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggacggacaagggccGggagagcaggactctggcat	9	5	18	9	2	1	1	0	0	1	1	1	5	1	4	1	7	1	2	1	7	1	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:21706493G>A	uc003cce.3	-	1	458	c.50C>T	c.(49-51)cCg>cTg	p.P17L	ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	17						nucleus	nucleic acid binding|zinc ion binding	p.L16I(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						GACAAGGGCCGGGAGAGCAGG	0.517													A	21706493	G	A	21706493	3	1	6	1	0	0	0	0	1	0	0	0	17979	1116	39	1	1165	1	ZNF385D	3	21706493	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	11215441	21706493	176315937	13	356											
TOMM70A	9868	broad.mit.edu	37	chr3	100105109	100105109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctcatgggcttttgcaCgtctaaagagagctttcaca	9	13	9	10	1	3	1	2	0	2	1	4	2	3	1	0	1	2	4	0	1	2	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:100105109C>T	uc003dtw.3	-	2	1027	c.578G>A	c.(577-579)cGt>cAt	p.R193H		NM_014820	NP_055635	O94826	TOM70_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae) (TOMM70A), nuclear gene encoding mitochondrial protein, mRNA.	193					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity	p.R193C(1)		endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GGCTTTTGCACGTCTAAAGAG	0.323													T	100105109	C	T	100105109	3	4	6	1	0	0	0	0	1	0	0	0	16463	536	19	1	1288	1	TOMM70A	3	100105109	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	78398616	100105109	97917321	14	357											
LRRC31	79782	broad.mit.edu	37	chr3	169572742	169572742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagatctaatttcctcaGctcacccaaatacctaaaag	16	9	5	11	0	3	1	2	0	1	1	4	2	4	2	3	1	2	1	3	1	6	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:169572742G>T	uc003fgc.1	-	5	915	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	LRRC31_uc010hwp.1_Missense_Mutation_p.L228M	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	284										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			AATTTCCTCAGCTCACCCAAA	0.458													T	169572742	G	T	169572742	3	4	6	1	0	0	0	0	1	0	0	0	9056	962	34	4	824	4	LRRC31	3	169572742	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	69467633	169572742	28449688	15	358											
PLD1	5337	broad.mit.edu	37	chr3	171426553	171426553	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatactaaccaccagtcTgtgataaaaatctcttcatt	16	12	3	10	0	3	1	1	1	2	0	4	1	3	1	2	0	2	0	2	0	6	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr3:171426553T>C	uc003fhs.3	-	10	1484	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	PLD1_uc003fht.3_Silent_p.T379T	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	379					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACCACCAGTCTGTGATAAAAA	0.348													C	171426553	T	C	171426553	2	2	6	1	0	0	0	0	0	0	0	1	12122	1567	55	3		3	PLD1	3	171426553	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08	1853811	171426553	26595877	16	359											
KCTD8	386617	broad.mit.edu	37	chr4	44176993	44176993	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgatgagggtctgaaaGagttcactgtttctgcgttt	7	16	12	6	1	3	4	1	3	2	1	3	4	3	4	0	1	2	4	0	1	1	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:44176993G>T	uc003gwu.3	-	1	1520	c.1236C>A	c.(1234-1236)ctC>ctA	p.L412L		NM_198353	NP_938167	Q6ZWB6	KCTD8_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 8 (KCTD8), mRNA.	412						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						GGGTCTGAAAGAGTTCACTGT	0.438										HNSCC(17;0.042)			T	44176993	G	T	44176993	2	4	6	1	0	0	0	0	0	0	0	1	8173	929	33	4		4	KCTD8	4	44176993	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		44176993	146977283	17	360											
ADAMTS3	9508	broad.mit.edu	37	chr4	73175150	73175150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtaaatgtccccttcaCggttcggcagtgggaattat	8	13	11	9	2	2	0	1	0	1	0	4	1	3	1	2	4	0	3	2	4	4	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr4:73175150C>T	uc003hgk.2	-	14	2180	c.2143G>A	c.(2143-2145)Gtg>Atg	p.V715M	ADAMTS3_uc003hgl.3_Missense_Mutation_p.V56M	NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	715	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.V715V(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTCCCCTTCACGGTTCGGCAG	0.433													T	73175150	C	T	73175150	3	4	6	1	0	0	0	0	1	0	0	0	267	536	19	1	1506	1	ADAMTS3	4	73175150	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	28998157	73175150	117979126	18	361											
UGT3A2	167127	broad.mit.edu	37	chr5	36048994	36048994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggttcacttacttgTggtactggtttaataggttt	7	17	12	5	0	1	1	1	1	0	0	1	1	1	1	0	4	2	5	0	4	4	8			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:36048994T>C	uc003jjz.2	-	3	972	c.840A>G	c.(838-840)ccA>ccG	p.P280P	UGT3A2_uc011cos.2_Silent_p.P246P|UGT3A2_uc011cot.2_Intron	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	280						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACTTACTTGTGGTACTGGTT	0.463													C	36048994	T	C	36048994	2	2	6	1	0	0	0	0	0	0	0	1	17066	1683	59	3		3	UGT3A2	5	36048994	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08		36048994	144866266	19	362											
NNT	23530	broad.mit.edu	37	chr5	43653189	43653189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacccagggaacagcaCgtcttggcaatgcactgggc	9	7	11	14	1	2	0	0	0	2	0	3	1	2	1	2	3	3	3	2	3	2	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr5:43653189C>A	uc003joe.3	+	13	2188	c.1933C>A	c.(1933-1935)Cgt>Agt	p.R645S	NNT_uc003jof.3_Missense_Mutation_p.R645S	NM_012343	NP_892022	Q13423	NNTM_HUMAN	Homo sapiens nicotinamide nucleotide transhydrogenase (NNT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	645					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGGAACAGCACGTCTTGGCAA	0.542													A	43653189	C	A	43653189	3	1	6	1	0	0	0	0	1	0	0	0	10586	536	19	4	1983	4	NNT	5	43653189	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	7604195	43653189	137262071	20	363											
GFRAL	389400	broad.mit.edu	37	chr6	55223736	55223736	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcagcgtgtgactagaaAgtgccatgaagatgagaatt	13	9	13	6	1	0	5	0	3	0	3	0	6	0	5	1	1	2	1	1	1	4	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr6:55223736A>T	uc003pcm.1	+	5	838	c.752A>T	c.(751-753)aAg>aTg	p.K251M		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	251						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTGACTAGAAAGTGCCATGAA	0.393													T	55223736	A	T	55223736	3	4	6	1	0	0	0	0	1	0	0	0	6407	72	3	5	774	5	GFRAL	6	55223736	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		55223736	115891331	21	364											
CCDC146	57639	broad.mit.edu	37	chr7	76883866	76883866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaaaagaatttgagaagAtaacaaagccaggagtaagt	20	8	10	3	0	0	3	0	1	0	3	0	5	0	4	1	1	2	2	1	1	8	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:76883866A>T	uc003uga.3	+	4	620	c.493A>T	c.(493-495)Ata>Tta	p.I165L		NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	165										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATTTGAGAAGATAACAAAGCC	0.279													T	76883866	A	T	76883866	3	4	6	1	0	0	0	0	1	0	0	0	2806	333	12	5	507	5	CCDC146	7	76883866	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		76883866	82254797	22	365											
SEMA3C	10512	broad.mit.edu	37	chr7	80387714	80387714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaataagggtcccgcgccaGgcagcagtcagcacaggctg	10	4	14	13	2	1	0	1	0	0	0	2	0	2	0	2	3	2	5	2	3	2	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:80387714G>C	uc011kgw.2	-	14	1709	c.1630C>G	c.(1630-1632)Ctg>Gtg	p.L544V	SEMA3C_uc003uhj.3_Missense_Mutation_p.L526V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	526					immune response|response to drug	membrane	receptor activity	p.P544T(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCCCGCGCCAGGCAGCAGTCA	0.522													C	80387714	G	C	80387714	3	2	6	1	0	0	0	0	1	0	0	0	14119	991	35	4	695	4	SEMA3C	7	80387714	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	3503848	80387714	78750949	23	366											
PCLO	27445	broad.mit.edu	37	chr7	82532013	82532013	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttatttttatccttgcGtgaggaaagatgtagtgcat	9	17	10	5	1	0	2	0	1	0	1	1	3	1	3	1	1	2	3	1	1	4	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:82532013G>A	uc003uhx.2	-	8	13771	c.13482C>T	c.(13480-13482)caC>caT	p.H4494H	PCLO_uc003uhv.2_Silent_p.H4494H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4425					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTATCCTTGCGTGAGGAAAGA	0.303													A	82532013	G	A	82532013	2	1	6	1	0	0	0	0	0	0	0	1	11659	1136	40	1		1	PCLO	7	82532013	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	2144299	82532013	76606650	24	367											
FIS1	51024	broad.mit.edu	37	chr7	100884131	100884131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagccggtagttccccaCggccaggtagaagacgtaat	10	8	12	11	3	0	3	0	1	0	2	1	3	1	3	4	3	1	4	4	3	4	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:100884131C>T	uc003uyj.4	-	2	321	c.235G>A	c.(235-237)Gtg>Atg	p.V79M	CLDN15_uc003uyg.2_5'Flank|CLDN15_uc003uyh.2_5'Flank|FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Non-coding_Transcript	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	79					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TAGTTCCCCACGGCCAGGTAG	0.602													T	100884131	C	T	100884131	3	4	6	1	0	0	0	0	1	0	0	0	5946	536	19	1	235	1	FIS1	7	100884131	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	18352118	100884131	58254532	25	368											
HIPK2	28996	broad.mit.edu	37	chr7	139281490	139281490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgtttctgttcctccTcctcgtccgtgtcactgctg	1	15	11	14	3	2	0	1	0	1	0	7	0	6	0	4	1	1	3	4	1	0	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:139281490T>C	uc003vvf.4	-	11	2961	c.2690A>G	c.(2689-2691)gAg>gGg	p.E897G	HIPK2_uc003vvd.4_Missense_Mutation_p.E870G	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	897	Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with TP53 and TP73.|Interaction with UBE2I (By similarity).|Required for localization to nuclear speckles (By similarity).|SUMO interaction motifs (SIM); required for nuclear localization and kinase activity.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					CTGTTCCTCCTCCTCGTCCGT	0.602													C	139281490	T	C	139281490	3	2	6	1	0	0	0	0	1	0	0	0	7172	1551	54	3	922	3	HIPK2	7	139281490	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	38397359	139281490	19857173	26	369											
TRPV6	55503	broad.mit.edu	37	chr7	142571454	142571454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggggtcctctgtctggAagatgatatagaaggctgct	8	11	13	9	1	2	3	0	1	2	2	4	4	3	4	2	4	1	2	2	4	4	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr7:142571454A>G	uc003wbx.2	-	12	1764	c.1535T>C	c.(1534-1536)tTc>tCc	p.F512S	TRPV6_uc003wbw.1_Missense_Mutation_p.F298S|TRPV6_uc010lou.1_Missense_Mutation_p.F383S	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	512					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTCTGTCTGGAAGATGATATA	0.597													G	142571454	A	G	142571454	3	3	6	1	0	0	0	0	1	0	0	0	16701	246	9	3	654	3	TRPV6	7	142571454	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	3289964	142571454	16567209	27	370											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594552	70594552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttgcagcttcctgtcagaTtcctatggggcatggtgaga	7	12	13	9	1	1	2	1	1	0	2	3	3	3	2	2	3	2	4	2	3	1	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:70594552T>C	uc003xyl.3	-	6	2356	c.1649A>G	c.(1648-1650)aAt>aGt	p.N550S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.N495S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.N550S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	550	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCCTGTCAGATTCCTATGGGG	0.403													C	70594552	T	C	70594552	3	2	6	1	0	0	0	0	1	0	0	0	14825	1493	52	3	913	3	SLCO5A1	8	70594552	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		70594552	75769470	28	371											
FBXO43	286151	broad.mit.edu	37	chr8	101153144	101153144	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttcatgaacagctcatgTaccaattgcaaggctggggt	10	12	10	9	0	2	1	2	1	0	0	2	1	2	1	1	3	4	4	1	3	4	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:101153144T>G	uc003yjd.3	-	1	2074	c.1338A>C	c.(1336-1338)gtA>gtC	p.V446V	FBXO43_uc003yje.3_Silent_p.V412V|FBXO43_uc010mbp.2_Silent_p.V446V	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	446					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			ACAGCTCATGTACCAATTGCA	0.433													G	101153144	T	G	101153144	2	3	6	1	0	0	0	0	0	0	0	1	5801	1625	57	5		5	FBXO43	8	101153144	Silent	SNP	T	TCGA-02-2483-01A-01D-1494-08	30558592	101153144	45210878	29	372											
FZD6	8323	broad.mit.edu	37	chr8	104337555	104337555	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacatgatggccggaaccaAgaaaaactaaagaaatttat	20	7	7	7	1	0	3	0	1	0	2	0	4	0	4	2	2	3	0	2	2	9	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:104337555A>G	uc003ylh.3	+	3	1511	c.1221A>G	c.(1219-1221)caA>caG	p.Q407Q	FZD6_uc011lhn.2_Silent_p.Q375Q|FZD6_uc003ylj.3_Silent_p.Q407Q|FZD6_uc011lho.2_Silent_p.Q102Q|FZD6_uc011lhp.2_Silent_p.Q352Q	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	407					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			GCCGGAACCAAGAAAAACTAA	0.408													G	104337555	A	G	104337555	2	3	6	1	0	0	0	0	0	0	0	1	6186	69	3	3		3	FZD6	8	104337555	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	3184411	104337555	42026467	30	373											
TTC35	9694	broad.mit.edu	37	chr8	109468130	109468130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctatacagctatatgatAggattttacaagaagatcca	16	12	7	6	0	0	3	0	1	0	2	1	4	1	4	1	1	4	2	1	1	8	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:109468130A>G	uc003ymw.1	+	4	369	c.334A>G	c.(334-336)Agg>Ggg	p.R112G		NM_014673	NP_055488	Q15006	TTC35_HUMAN	Homo sapiens tetratricopeptide repeat domain 35 (TTC35), mRNA.	112						endoplasmic reticulum|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(57;2.34e-10)			GCTATATGATAGGATTTTACA	0.234													G	109468130	A	G	109468130	3	3	6	1	0	0	0	0	1	0	0	0	16805	411	15	3	352	3	TTC35	8	109468130	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	5130575	109468130	36895892	31	374											
TAF2	6873	broad.mit.edu	37	chr8	120744252	120744252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccttttctttactgtcaTgcttatgcttgtgtttgtgc	3	22	8	8	0	2	0	1	0	1	0	3	0	3	0	1	0	4	3	1	0	2	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr8:120744252T>C	uc003you.3	-	25	3782	c.3512A>G	c.(3511-3513)cAt>cGt	p.H1171R		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	1171	His-rich.|Lys-rich.				G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTACTGTCATGCTTATGCTT	0.458													C	120744252	T	C	120744252	3	2	6	1	0	0	0	0	1	0	0	0	15621	1464	51	3	91	3	TAF2	8	120744252	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	11276122	120744252	25619770	32	375											
SLC35D2	11046	broad.mit.edu	37	chr9	99084300	99084300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatatttaaccctacaaaGtttaacaaagagaaaatgta	21	10	4	6	0	0	1	0	0	0	1	0	2	0	1	1	0	3	2	1	0	10	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:99084300G>A	uc004awc.3	-	10	970	c.894C>T	c.(892-894)aaC>aaT	p.N298N	SLC35D2_uc010msd.3_Non-coding_Transcript|SLC35D2_uc010msf.3_Silent_p.N210N	NM_007001	NP_008932	Q76EJ3	S35D2_HUMAN	Homo sapiens solute carrier family 35, member D2 (SLC35D2), mRNA.	298						Golgi membrane|integral to membrane	nucleotide-sugar transmembrane transporter activity			endometrium(3)|large_intestine(3)|lung(4)|skin(2)	12		Acute lymphoblastic leukemia(62;0.0167)				ACCCTACAAAGTTTAACAAAG	0.343													A	99084300	G	A	99084300	2	1	6	1	0	0	0	0	0	0	0	1	14676	1020	36	2		2	SLC35D2	9	99084300	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08		99084300	42129131	33	376											
RALGDS	5900	broad.mit.edu	37	chr9	135983521	135983521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctggagctggctccaGctctagagtttgtgagggag	6	11	17	7	0	1	2	0	1	1	1	2	4	2	4	1	4	3	5	1	4	1	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr9:135983521G>T	uc004cco.3	-	5	1071	c.1051C>A	c.(1051-1053)Ctg>Atg	p.L351M	RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.L339M|RALGDS_uc004ccr.3_Missense_Mutation_p.L350M|RALGDS_uc011mcv.2_Missense_Mutation_p.L322M|RALGDS_uc004ccs.3_Missense_Mutation_p.L296M|RALGDS_uc011mcw.2_Missense_Mutation_p.L422M|RALGDS_uc004ccv.1_Missense_Mutation_p.L120M|RALGDS_uc004ccu.1_Missense_Mutation_p.L120M	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	351					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		GCTGGCTCCAGCTCTAGAGTT	0.582			T	CIITA	"PMBL, Hodgkin Lymphona, "								T	135983521	G	T	135983521	3	4	6	1	0	0	0	0	1	0	0	0	13104	962	34	4	1745	4	RALGDS	9	135983521	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	36899221	135983521	5229910	34	377											
ANKRD26	22852	broad.mit.edu	37	chr10	27350076	27350076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattttttttccatacccaTgtgggctactggcatgccta	7	15	8	11	0	0	0	0	0	0	0	1	0	1	0	3	2	3	3	3	2	3	7			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:27350076T>C	uc009xku.1	-	12	1631	c.1459A>G	c.(1459-1461)Atg>Gtg	p.M487V	ANKRD26_uc001itg.2_Intron|ANKRD26_uc001ith.2_Missense_Mutation_p.M487V	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	487						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCATACCCATGTGGGCTACT	0.348													C	27350076	T	C	27350076	3	2	6	1	0	0	0	0	1	0	0	0	654	1464	51	3	3761	3	ANKRD26	10	27350076	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		27350076	108184671	35	378											
MPP7	143098	broad.mit.edu	37	chr10	28409253	28409254	+	Missense_Mutation	DNP	CA	CA	AG																															tccctttttgaaagaaagccCagcttccttacatggaattg																										TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:28409253_28409254CA>AG	uc001iua.1	-	11	1160_1161	c.756_757TG>CT	c.(754-759)gctggg>gcCTgg	p.G253W	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.G253W|MPP7_uc009xla.2_Missense_Mutation_p.G253W|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	253	SH3.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						AAAGAAAGCCCAGCTTCCTTAC	0.406													AG	28409254	CA	AG	28409253	3	1	6	1	0	0	0	0	1	0	0	0	9815	594	21	4	1005	4	MPP7	10	28409253	Missense_Mutation	DNP	CA	TCGA-02-2483-01A-01D-1494-08	1059177	28409253	107125494	36	379											
BMS1	9790	broad.mit.edu	37	chr10	43316067	43316067	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccactgtattatatcgaaGaccacaatggaagacaaagg	16	8	8	9	1	0	2	0	0	0	2	2	4	1	3	2	2	0	1	2	2	7	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:43316067G>C	uc001jaj.3	+	16	3239	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	961					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTATATCGAAGACCACAATGG	0.428													C	43316067	G	C	43316067	3	2	6	1	0	0	0	0	1	0	0	0	1478	942	33	4	2943	4	BMS1	10	43316067	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	14906814	43316067	92218680	37	380											
BICC1	80114	broad.mit.edu	37	chr10	60553292	60553292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgaaggaagaaattgaaGtagatccacaattcattgcg	17	10	9	5	1	1	4	1	2	0	2	2	5	2	5	1	1	1	1	1	1	7	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr10:60553292G>A	uc001jki.1	+	8	1096	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I	BICC1_uc001jkj.1_Missense_Mutation_p.V7I	NM_001080512	NP_001073981	Q9H694	BICC1_HUMAN	Homo sapiens bicaudal C homolog 1 (Drosophila) (BICC1), mRNA.	366					multicellular organismal development		RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	44						AGAAATTGAAGTAGATCCACA	0.368													A	60553292	G	A	60553292	3	1	6	1	0	0	0	0	1	0	0	0	1433	1029	36	2	1130	2	BICC1	10	60553292	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	17237225	60553292	74981455	38	381											
OR5L1	219437	broad.mit.edu	37	chr11	55579759	55579759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtggagatgctgacaaaGtggccaccgtgttctacaca	12	9	11	9	1	1	2	0	1	1	1	1	3	1	2	2	2	2	2	2	2	3	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:55579759G>T	uc001nhw.1	+	0	817	c.817G>T	c.(817-819)Gtg>Ttg	p.V273L		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TGCTGACAAAGTGGCCACCGT	0.473													T	55579759	G	T	55579759	3	4	6	1	0	0	0	0	1	0	0	0	11246	1029	36	4	819	4	OR5L1	11	55579759	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		55579759	79426757	39	382											
OR5B12	390191	broad.mit.edu	37	chr11	58207194	58207194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccacagatgtaggagcctAtggccaggcaagcacataca	15	5	10	11	0	0	1	0	0	0	1	0	2	0	2	3	3	4	3	3	3	5	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:58207194A>G	uc010rkh.2	-	0	453	c.431T>C	c.(430-432)aTa>aCa	p.I144T		NM_001004733	NP_001004733	Q96R08	OR5BC_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 12 (OR5B12), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GTAGGAGCCTATGGCCAGGCA	0.463													G	58207194	A	G	58207194	3	3	6	1	0	0	0	0	1	0	0	0	11224	449	16	3	517	3	OR5B12	11	58207194	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08	2627435	58207194	76799322	40	383											
IGHMBP2	3508	broad.mit.edu	37	chr11	68704092	68704092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagcccagcctcaacggagGcagcccagagggagtggaga	11	3	15	12	1	2	2	2	0	0	2	2	5	2	4	3	4	4	1	3	4	1	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:68704092G>A	uc001ook.1	+	12	2246	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D	IGHMBP2_uc001ool.1_Missense_Mutation_p.G339D|IGHMBP2_uc001oom.1_Missense_Mutation_p.G293D	NM_002180	NP_002171	P38935	SMBP2_HUMAN	Homo sapiens immunoglobulin mu binding protein 2 (IGHMBP2), mRNA.	715					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTCAACGGAGGCAGCCCAGAG	0.617													A	68704092	G	A	68704092	3	1	6	1	0	0	0	0	1	0	0	0	7649	1203	42	2	2194	2	IGHMBP2	11	68704092	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	10496898	68704092	66302424	41	384											
TMEM133	83935	broad.mit.edu	37	chr11	100863381	100863381	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccctgcttcaaaatgtGccagttccacttggtaataa	11	12	6	12	0	1	0	1	0	0	0	3	0	3	0	4	1	2	3	4	1	4	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr11:100863381G>T	uc001pgf.3	+	0	571	c.342G>T	c.(340-342)gtG>gtT	p.V114V		NM_032021	NP_114410	Q9H2Q1	TM133_HUMAN	Homo sapiens transmembrane protein 133 (TMEM133), mRNA.	114						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TTCAAAATGTGCCAGTTCCAC	0.373													T	100863381	G	T	100863381	2	4	6	1	0	0	0	0	0	0	0	1	16149	1306	46	4		4	TMEM133	11	100863381	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	32159289	100863381	34143135	42	385											
TAS2R9	50835	broad.mit.edu	37	chr12	10962585	10962585	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagccagtcaatgcagttAactagtacaatgaatccatt	14	12	7	8	0	1	2	1	2	0	0	2	2	2	2	2	0	4	3	2	0	6	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:10962585A>T	uc001qyx.3	-	0	183	c.90T>A	c.(88-90)gtT>gtA	p.V30V		NM_023917	NP_076406	Q9NYW1	TA2R9_HUMAN	Homo sapiens taste receptor, type 2, member 9 (TAS2R9), mRNA.	30					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAATGCAGTTAACTAGTACAA	0.388													T	10962585	A	T	10962585	2	4	6	1	0	0	0	0	0	0	0	1	15685	349	13	5		5	TAS2R9	12	10962585	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08		10962585	122889310	43	386											
BIN2	51411	broad.mit.edu	37	chr12	51685543	51685543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcccagtccccaaggaggcCctagggctggtgggtgaacc	7	6	15	13	0	0	1	0	1	0	0	2	2	2	2	5	5	1	1	5	5	3	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:51685543C>T	uc001ryg.3	-	9	1399	c.1347G>A	c.(1345-1347)agG>agA	p.R449R	BIN2_uc009zlz.3_Silent_p.R417R|BIN2_uc001ryh.3_Silent_p.R325R|BIN2_uc010sng.2_Silent_p.R423R	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	449	Pro-rich.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						CCAAGGAGGCCCTAGGGCTGG	0.612													T	51685543	C	T	51685543	2	4	6	1	0	0	0	0	0	0	0	1	1439	622	22	2		2	BIN2	12	51685543	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	40722958	51685543	82166352	44	387											
R3HDM2	22864	broad.mit.edu	37	chr12	57648757	57648757	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccactgttgtcccccccAccccctccaggcagcccctg	4	7	7	23	0	0	0	0	0	0	0	3	0	3	0	9	1	1	2	9	1	0	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:57648757A>C	uc009zpm.1	-	21	2765	c.2730T>G	c.(2728-2730)ggT>ggG	p.G910G	R3HDM2_uc010srn.1_Intron|R3HDM2_uc001snu.2_Silent_p.G605G|R3HDM2_uc001snr.2_Silent_p.G637G|R3HDM2_uc001sns.2_Silent_p.G910G|R3HDM2_uc001snt.2_Silent_p.G924G	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	910	Poly-Gly.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						TGTCCCCCCCACCCCCTCCAG	0.632													C	57648757	A	C	57648757	2	2	6	1	0	0	0	0	0	0	0	1	12976	146	6	5		5	R3HDM2	12	57648757	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	5963214	57648757	76203138	45	388											
IRAK3	11213	broad.mit.edu	37	chr12	66638935	66638935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattcatgtctctcatttCtagataagaaagtgcctccc	10	14	7	10	0	4	2	2	0	2	2	6	3	5	3	2	1	1	0	2	1	3	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr12:66638935C>A	uc001sth.3	+	10	1309	c.1207C>A	c.(1207-1209)Cta>Ata	p.L403I	IRAK3_uc010ssy.2_Missense_Mutation_p.L342I	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	403	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCTCTCATTTCTAGATAAGAA	0.478													A	66638935	C	A	66638935	3	1	6	1	0	0	0	0	1	0	0	0	7882	912	32	4	1249	4	IRAK3	12	66638935	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	8990178	66638935	67212960	46	389											
ATP11A	23250	broad.mit.edu	37	chr13	113510350	113510350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggaaatctgccggaGctgcagcgcggtgctctgct	5	10	13	13	3	2	0	0	0	2	0	3	2	3	2	2	3	6	4	2	3	1	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr13:113510350G>A	uc001vsj.4	+	19	2457	c.2369G>A	c.(2368-2370)aGc>aAc	p.S790N	ATP11A_uc001vsi.4_Missense_Mutation_p.S790N|ATP11A_uc001vsm.1_Missense_Mutation_p.S666N|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	790					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCTGCCGGAGCTGCAGCGCG	0.597													A	113510350	G	A	113510350	3	1	6	1	0	0	0	0	1	0	0	0	1124	971	34	2	2447	2	ATP11A	13	113510350	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		113510350	1659528	47	390											
DCAF11	80344	broad.mit.edu	37	chr14	24588926	24588926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttcgcctagattgagTcccatgaggatgatgtgaat	9	14	10	8	1	0	5	0	4	0	1	3	6	2	6	3	1	0	0	3	1	2	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr14:24588926T>C	uc001wlv.3	+	10	1193	c.913T>C	c.(913-915)Tcc>Ccc	p.S305P	DCAF11_uc001wlw.3_Missense_Mutation_p.S305P|DCAF11_uc001wlz.3_Missense_Mutation_p.S205P|DCAF11_uc001wly.3_Missense_Mutation_p.S261P|DCAF11_uc010tny.2_Missense_Mutation_p.S172P|DCAF11_uc001wmc.3_Missense_Mutation_p.S205P|DCAF11_uc001wmb.4_Missense_Mutation_p.S279P|DCAF11_uc001wma.4_Missense_Mutation_p.S305P	NM_001163484	NP_079506	Q8TEB1	DCA11_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 11 (DCAF11), transcript variant 3, mRNA.	305						CUL4 RING ubiquitin ligase complex	protein binding										CTAGATTGAGTCCCATGAGGA	0.483													C	24588926	T	C	24588926	3	2	6	1	0	0	0	0	1	0	0	0	4296	1667	58	3	951	3	DCAF11	14	24588926	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		24588926	82760614	48	391											
GRAMD2	196996	broad.mit.edu	37	chr15	72460907	72460907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtatttattcagtgttaTctgcaaacacacaggctgcg	10	14	9	8	1	2	0	1	0	1	0	2	0	2	0	0	1	3	5	0	1	4	6			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:72460907T>C	uc002atq.3	-	4	217	c.193_splice	c.e4-1	p.I65_splice	GRAMD2_uc010bis.2_Splice_Site_p.I65_splice	NM_001012642	NP_001012660	Q8IUY3	GRAM2_HUMAN	Homo sapiens GRAM domain containing 2 (GRAMD2), mRNA.	65						integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						TTCAGTGTTATCTGCAAACAC	0.542													C	72460907	T	C	72460907	3	2	6	1	0	0	0	0	1	0	0	0	6805	1449	50	3	907	3	GRAMD2	15	72460907	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		72460907	30070485	49	392											
IDH3A	3419	broad.mit.edu	37	chr15	78454015	78454015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgaatgtccgaccatgtGtctctatcgaaggctataaa	12	10	9	10	4	1	0	0	0	1	0	4	3	2	0	2	1	0	1	2	1	6	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr15:78454015G>T	uc002bdd.3	+	4	409	c.382G>T	c.(382-384)Gtc>Ttc	p.V128F	IDH3A_uc010umt.2_Intron|IDH3A_uc010umu.2_Missense_Mutation_p.V19F|IDH3A_uc002bdf.3_5'UTR|IDH3A_uc010umv.2_Missense_Mutation_p.V78F|IDH3A_uc021srf.1_Non-coding_Transcript|IDH3A_uc002bdg.3_Missense_Mutation_p.V41F	NM_005530	NP_005521	P50213	IDH3A_HUMAN	Homo sapiens isocitrate dehydrogenase 3 (NAD+) alpha (IDH3A), nuclear gene encoding mitochondrial protein, mRNA.	128					carbohydrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			endometrium(1)|large_intestine(5)|lung(5)|stomach(1)	12					NADH(DB00157)	CCGACCATGTGTCTCTATCGA	0.443													T	78454015	G	T	78454015	3	4	6	1	0	0	0	0	1	0	0	0	7554	1377	48	4	400	4	IDH3A	15	78454015	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	5993108	78454015	24077377	50	393											
PARN	5073	broad.mit.edu	37	chr16	14704541	14704541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgatcctcaggaatcgTgacaggacattttgaagtgt	10	14	10	7	1	1	3	1	3	0	0	3	5	2	5	1	2	0	0	1	2	2	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:14704541T>C	uc010uzd.2	-	6	660	c.514A>G	c.(514-516)Acg>Gcg	p.T172A	PARN_uc010uzc.2_Missense_Mutation_p.T111A|PARN_uc010uze.2_Missense_Mutation_p.T126A|PARN_uc010uzf.2_Intron|PARN_uc010uzg.2_Non-coding_Transcript	NM_002582	NP_001127949	O95453	PARN_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN), transcript variant 1, mRNA.	172					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TCAGGAATCGTGACAGGACAT	0.408													C	14704541	T	C	14704541	3	2	6	1	0	0	0	0	1	0	0	0	11529	1696	59	3	1477	3	PARN	16	14704541	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08		14704541	75650212	51	394											
ZNF646	9726	broad.mit.edu	37	chr16	31087887	31087887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcccctgtaccacctgtgGcaaggacttctccaatccca	8	11	6	16	0	1	0	0	0	1	0	4	1	3	1	6	2	1	2	6	2	3	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr16:31087887G>A	uc002eap.3	+	1	531	c.242G>A	c.(241-243)gGc>gAc	p.G81D	ZNF668_uc002eao.3_5'Flank|ZNF646_uc021tgu.1_Missense_Mutation_p.G81D	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ACCACCTGTGGCAAGGACTTC	0.627													A	31087887	G	A	31087887	3	1	6	1	0	0	0	0	1	0	0	0	18163	1203	42	2	244	2	ZNF646	16	31087887	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	16383346	31087887	59266866	52	395											
NXN	64359	broad.mit.edu	37	chr17	722696	722696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttggattccgtacagcCggttgaggcgcgaccgccgg	6	8	14	13	6	0	1	0	1	0	0	1	3	1	2	5	4	3	2	5	4	2	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:722696C>T	uc002fsa.3	-	4	883	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	NXN_uc002fsb.1_Missense_Mutation_p.R155Q|NXN_uc010vqd.2_Missense_Mutation_p.R19Q|NXN_uc010vqe.2_Missense_Mutation_p.R160Q	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	268	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		TCCGTACAGCCGGTTGAGGCG	0.607													T	722696	C	T	722696	3	4	6	1	0	0	0	0	1	0	0	0	10863	652	23	1	520	1	NXN	17	722696	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08		722696	80472514	53	396											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	6	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6854424	7577120	73618090	54	397											
KRT9	3857	broad.mit.edu	37	chr17	39727935	39727935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccagaactactatagcCtcctccagaagcaccaccaa	14	5	4	18	0	0	2	0	0	0	2	2	2	2	2	7	0	4	1	7	0	6	3			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:39727935C>T	uc002hxe.4	-	0	376	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	104	Head.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ctactatagcctcctccagaa	0.572													T	39727935	C	T	39727935	3	4	6	1	0	0	0	0	1	0	0	0	8559	681	24	2	1589	2	KRT9	17	39727935	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	32150815	39727935	41467275	55	398											
ABCA9	10350	broad.mit.edu	37	chr17	67012462	67012462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattccaagtagtccattgcTaatgacatccaggaggacag	14	9	9	9	0	0	1	0	1	0	0	3	3	3	3	3	2	1	2	3	2	4	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:67012462T>C	uc002jhu.3	-	21	3114	c.2971A>G	c.(2971-2973)Agc>Ggc	p.S991G	ABCA9_uc010dez.3_Missense_Mutation_p.S991G	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	991					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AGTCCATTGCTAATGACATCC	0.348													C	67012462	T	C	67012462	3	2	6	1	0	0	0	0	1	0	0	0	39	1522	53	3	1975	3	ABCA9	17	67012462	Missense_Mutation	SNP	T	TCGA-02-2483-01A-01D-1494-08	27284527	67012462	14182748	56	399											
RECQL5	9400	broad.mit.edu	37	chr17	73627684	73627684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggggttctggcagtggtCgcagcctttggcgcaggcag	4	9	18	10	3	1	0	0	0	1	0	2	0	1	0	1	6	1	5	1	6	0	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr17:73627684C>T	uc010dgl.3	-	8	1503	c.1294G>A	c.(1294-1296)Gac>Aac	p.D432N	RECQL5_uc010dgk.3_Missense_Mutation_p.D405N|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	432					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TGGCAGTGGTCGCAGCCTTTG	0.701								Other identified genes with known or suspected DNA repair function					T	73627684	C	T	73627684	3	4	6	1	0	0	0	0	1	0	0	0	13291	884	31	1	1729	1	RECQL5	17	73627684	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6615222	73627684	7567526	57	400											
NDUFV2	4729	broad.mit.edu	37	chr18	9124948	9124948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttaggggcctgtgtgaaCgcaccaatggttcaaataaa	12	11	11	7	1	1	1	1	1	0	0	1	1	1	1	2	3	1	3	2	3	6	4	rs143576401	byFrequency	TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr18:9124948C>T	uc002knu.3	+	5	660	c.546C>T	c.(544-546)aaC>aaT	p.N182N		NM_021074	NP_066552	P19404	NDUV2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa (NDUFV2), nuclear gene encoding mitochondrial protein, mRNA.	182					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	CCTGTGTGAACGCACCAATGG	0.313													T	9124948	C	T	9124948	2	4	6	1	0	0	0	0	0	0	0	1	10376	535	19	1		1	NDUFV2	18	9124948	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08		9124948	68952300	58	401											
GRIN3B	116444	broad.mit.edu	37	chr19	1004870	1004870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgactcggccaccctggAcgcactgttcgccgcgctgg	6	6	12	17	6	0	0	0	0	0	0	2	2	0	1	3	3	1	3	3	3	1	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:1004870A>G	uc002lqo.1	+	2	1370	c.1370A>G	c.(1369-1371)gAc>gGc	p.D457G		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	457					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GCCACCCTGGACGCACTGTTC	0.672													G	1004870	A	G	1004870	3	3	6	1	0	0	0	0	1	0	0	0	6839	275	10	3	1380	3	GRIN3B	19	1004870	Missense_Mutation	SNP	A	TCGA-02-2483-01A-01D-1494-08		1004870	58124113	59	402											
PTPRS	5802	broad.mit.edu	37	chr19	5211663	5211663	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacaccccggatgggttgCagacagacccgtgtgctctc	7	8	11	15	2	1	2	0	0	1	2	3	3	2	3	4	2	2	3	4	2	0	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:5211663C>T	uc002mbv.3	-	32	5406	c.5172G>A	c.(5170-5172)ctG>ctA	p.L1724L	PTPRS_uc002mbu.1_Silent_p.L1293L|PTPRS_uc010xin.2_Silent_p.L1266L|PTPRS_uc002mbw.3_Silent_p.L1686L|PTPRS_uc002mbx.3_Silent_p.L1281L|PTPRS_uc002mby.3_Silent_p.L1277L	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1724	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGATGGGTTGCAGACAGACCC	0.562													T	5211663	C	T	5211663	2	4	6	1	0	0	0	0	0	0	0	1	12899	697	25	2		2	PTPRS	19	5211663	Silent	SNP	C	TCGA-02-2483-01A-01D-1494-08	4206793	5211663	53917320	60	403											
C3	718	broad.mit.edu	37	chr19	6711035	6711035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttggcctcgtgggcgCggtccattcgcaggaggaag	6	8	17	10	4	1	0	0	0	1	0	4	3	2	3	2	6	0	1	2	6	1	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:6711035C>T	uc002mfm.3	-	11	1504	c.1442G>A	c.(1441-1443)cGc>cAc	p.R481H		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	481					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCGTGGGCGCGGTCCATTCG	0.607													T	6711035	C	T	6711035	3	4	6	1	0	0	0	0	1	0	0	0	2225	768	27	1	3669	1	C3	19	6711035	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	1499372	6711035	52417948	61	404											
PDE4C	5143	broad.mit.edu	37	chr19	18331288	18331288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcaccagtccagctcGtctagcgtctccaatgccag	8	8	9	16	2	2	0	0	0	2	0	6	0	4	0	5	1	3	2	5	1	2	1			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:18331288G>A	uc010xqc.2	-	5	1113	c.633C>T	c.(631-633)gaC>gaT	p.D211D	PDE4C_uc002nik.4_Silent_p.D211D|PDE4C_uc002nil.4_Silent_p.D211D|PDE4C_uc002nig.4_Intron|PDE4C_uc002nih.4_Intron|PDE4C_uc010ebk.3_Silent_p.D105D|PDE4C_uc002nii.4_Silent_p.D179D|PDE4C_uc002nif.4_5'UTR|PDE4C_uc010ebl.3_5'UTR|PDE4C_uc010ebm.1_Non-coding_Transcript|PDE4C_uc002nim.1_Nonsense_Mutation_p.R195*	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	211				D -> Y (in Ref. 2; AAD47053/AAD47054).	signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	AGTCCAGCTCGTCTAGCGTCT	0.672													A	18331288	G	A	18331288	2	1	6	1	0	0	0	0	0	0	0	1	11717	1136	40	1		1	PDE4C	19	18331288	Silent	SNP	G	TCGA-02-2483-01A-01D-1494-08	11620253	18331288	40797695	62	405											
SBSN	374897	broad.mit.edu	37	chr19	36017633	36017633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggcctggccagcagcatgGtgggcaccttggccaagctt	6	7	14	14	1	0	0	0	0	0	0	0	0	0	0	5	5	3	4	5	5	1	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:36017633G>T	uc002oad.2	-	0	1621	c.1551C>A	c.(1549-1551)caC>caA	p.H517Q	SBSN_uc002oae.2_Missense_Mutation_p.H174Q|SBSN_uc021usp.1_Intron	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	174						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CAGCAGCATGGTGGGCACCTT	0.582													T	36017633	G	T	36017633	3	4	6	1	0	0	0	0	1	0	0	0	13956	1252	44	4	237	4	SBSN	19	36017633	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	17686345	36017633	23111350	63	406											
ZNF569	148266	broad.mit.edu	37	chr19	37904719	37904719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaataagatttgatttctGgctgaaggacttctcacatt	12	15	7	7	0	3	3	2	2	2	1	4	4	3	4	0	2	0	1	0	2	3	5			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:37904719G>T	uc002ogj.3	-	8	1845	c.913C>A	c.(913-915)Cag>Aag	p.Q305K	ZNF569_uc002ogh.3_Missense_Mutation_p.Q122K|ZNF569_uc002ogi.3_Missense_Mutation_p.Q281K	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	281					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K305R(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTTCTGGCTGAAGGAC	0.358													T	37904719	G	T	37904719	3	4	6	1	0	0	0	0	1	0	0	0	18101	1357	47	4	1223	4	ZNF569	19	37904719	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	1887086	37904719	21224264	64	407											
ZNF155	7711	broad.mit.edu	37	chr19	44500816	44500816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcatgtgggaaggccttCattcatgattcccagcttaa	10	11	11	9	0	2	1	2	1	0	0	3	3	3	2	2	3	1	2	2	3	2	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:44500816C>A	uc010xwt.1	+	5	1024	c.840C>A	c.(838-840)ttC>ttA	p.F280L	ZNF155_uc002oxy.1_Missense_Mutation_p.F269L|ZNF155_uc002oxz.1_Missense_Mutation_p.F269L	NM_198089	NP_932355	Q12901	ZN155_HUMAN	Homo sapiens zinc finger protein 155 (ZNF155), transcript variant 2, mRNA.	269						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GGAAGGCCTTCATTCATGATT	0.398													A	44500816	C	A	44500816	3	1	6	1	0	0	0	0	1	0	0	0	17837	825	29	4	821	4	ZNF155	19	44500816	Missense_Mutation	SNP	C	TCGA-02-2483-01A-01D-1494-08	6596097	44500816	14628167	65	408											
PNMAL1	55228	broad.mit.edu	37	chr19	46973358	46973359	+	Missense_Mutation	DNP	CA	CA	AT																															gtggctctctgggacccttcCaggcacatttcgccatgggc																										TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr19:46973358_46973359CA>AT	uc002peq.4	-	1	1240_1241	c.934_935TG>AT	c.(934-936)tgg>ATg	p.W312M	PNMAL1_uc002per.4_Missense_Mutation_p.W312M	NM_018215	NP_060685	Q86V59	PNML1_HUMAN	Homo sapiens PNMA-like 1 (PNMAL1), transcript variant 1, mRNA.	312										cervix(1)|endometrium(2)|large_intestine(8)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000166)|all cancers(93;0.0014)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		GGGACCCTTCCAGGCACATTTC	0.584													AT	46973359	CA	AT	46973358	3	1	6	1	0	0	0	0	1	0	0	0	12234	595	21	4	414	4	PNMAL1	19	46973358	Missense_Mutation	DNP	CA	TCGA-02-2483-01A-01D-1494-08	2472542	46973358	12155625	66	409											
COL18A1	80781	broad.mit.edu	37	chr21	46925140	46925141	+	In_Frame_Ins	INS	-	-	GGCCCCCCA																															aggggcgccagggccctcccINSggccccccaggccccccagg																										TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr21:46925140_46925141insGGCCCCCCA	uc002zhi.3	+	33	3522_3523	c.3501_3502insGGCCCCCCA	c.(3499-3504)insGGCCCCCCA	p.1176_1177insGPP	COL18A1_uc002zhg.3_In_Frame_Ins_p.996_997insGPP|SLC19A1_uc010gpy.1_Intron|COL18A1_uc002zhj.3_5'UTR|COL18A1_uc002zhk.3_5'Flank	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	1411	Triple-helical region 5 (COL5).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGGGCCCTCCCGGCCCCCCAGG	0.733													GGCCCCCCA	46925141	-	GGCCCCCCA	46925140	7	5	6	1	0	1	1	0	0	0	0	0	3706	639	23	0	4449	0	COL18A1	21	46925140	In_Frame_Ins	INS	-	TCGA-02-2483-01A-01D-1494-08		46925140	1204755	67	410											
GAS2L1	10634	broad.mit.edu	37	chr22	29707873	29707873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccagactccccgtgcccGcagccctgcagcaccccggc	5	3	9	24	3	0	1	0	0	0	1	1	1	1	1	8	1	4	3	8	1	0	0			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:29707873G>A	uc003afa.1	+	6	1629	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	GAS2L1_uc010gvm.1_Intron|GAS2L1_uc003afb.1_3'UTR|GAS2L1_uc003afc.1_Missense_Mutation_p.R477H|GAS2L1_uc003afd.1_Missense_Mutation_p.A478T|GAS2L1_uc003afe.1_Missense_Mutation_p.A478T	NM_152236	NP_689422	Q99501	GA2L1_HUMAN	Homo sapiens growth arrest-specific 2 like 1 (GAS2L1), transcript variant 2, mRNA.	478					cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CCCCGTGCCCGCAGCCCTGCA	0.711													A	29707873	G	A	29707873	3	1	6	1	0	0	0	0	1	0	0	0	6300	1087	38	1	1454	1	GAS2L1	22	29707873	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08		29707873	21596693	68	411											
EP300	2033	broad.mit.edu	37	chr22	41564740	41564740	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataggtttgtggacagtggAgagatggcagaatcctttcc	10	12	13	6	0	0	2	0	0	0	2	2	5	2	4	2	4	0	2	2	4	3	4			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chr22:41564740A>G	uc003azl.4	+	24	4436	c.4041A>G	c.(4039-4041)ggA>ggG	p.G1347G		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1347					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGACAGTGGAGAGATGGCAG	0.433			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				G	41564740	A	G	41564740	2	3	6	1	0	0	0	0	0	0	0	1	5189	291	11	3		3	EP300	22	41564740	Silent	SNP	A	TCGA-02-2483-01A-01D-1494-08	11856867	41564740	9739826	69	412											
ATRX	546	broad.mit.edu	37	chrX	76849273	76849273	+	Frame_Shift_Del	DEL	C	C	-																															tctgtaacaaaatctttgtaCcagtctggagctgggctgct																										TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:76849273delC	uc004ecp.4	-	25	6235	c.6003delG	c.(6001-6003)tggfs	p.W2001fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.W1963fs|ATRX_uc004eco.4_Frame_Shift_Del_p.W1786fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2001					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)	AATCTTTGTACCAGTCTGGAG	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76849273	C	-	76849273	7	5	6	1	0	1	0	1	0	0	0	0	1213	508	18	0	1515	0	ATRX	23	76849273	Frame_Shift_Del	DEL	C	TCGA-02-2483-01A-01D-1494-08		76849273	78421287	70	413											
AFF2	2334	broad.mit.edu	37	chrX	147733555	147733555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagtgcacttaaaaaaaGggaatgggagcggaggaatc	15	6	14	6	2	0	0	0	0	0	0	1	4	0	4	1	4	2	2	1	4	7	2			TCGA-02-2483-01A-01D-1494-08	TCGA-02-2483-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d7f2c74-862b-4aad-98e1-fa831f14a905	f191bb9c-1937-40e5-8491-76dede722cdd	g.chrX:147733555G>T	uc004fcp.3	+	1	562	c.83G>T	c.(82-84)aGg>aTg	p.R28M	AFF2_uc004fco.3_Missense_Mutation_p.R28M|AFF2_uc004fcq.3_Missense_Mutation_p.R28M|AFF2_uc004fcr.3_Missense_Mutation_p.R28M|AFF2_uc011mxb.2_Missense_Mutation_p.R28M|AFF2_uc004fcs.3_Missense_Mutation_p.R28M	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	28					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAAAAAAAGGGAATGGGAG	0.363													T	147733555	G	T	147733555	3	4	6	1	0	0	0	0	1	0	0	0	357	1000	35	4	89	4	AFF2	23	147733555	Missense_Mutation	SNP	G	TCGA-02-2483-01A-01D-1494-08	70884282	147733555	7537005	71	414											
EPHB2	2048	broad.mit.edu	37	chr1	23110979	23110979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccagaacaactggctacGgaccaagtttatccggcgcc	12	6	10	13	3	0	1	0	0	0	1	1	2	1	2	4	3	4	2	4	3	6	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:23110979G>A	uc009vqj.1	+	2	366	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	EPHB2_uc001bge.3_Missense_Mutation_p.R74Q|EPHB2_uc001bgf.3_Missense_Mutation_p.R74Q|EPHB2_uc010odu.2_Missense_Mutation_p.R74Q	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	74					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AACTGGCTACGGACCAAGTTT	0.587													A	23110979	G	A	23110979	3	1	7	1	0	0	0	0	1	0	0	0	5216	1116	39	1	231	1	EPHB2	1	23110979	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		23110979	226139642	1	415											
WNT2B	7482	broad.mit.edu	37	chr1	113059824	113059825	+	Frame_Shift_Del	DEL	CT	CT	-																															tgcgcacctgctggcgtgcaCtctcagatttccgccgcaca																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:113059824_113059825delCT	uc001ecb.3	+	3	1278_1279	c.763_764delCT	c.(763-765)ctcfs	p.L255fs	WNT2B_uc001eca.3_Frame_Shift_Del_p.L236fs|WNT2B_uc009wgg.3_Frame_Shift_Del_p.L163fs	NM_024494	NP_078613	Q93097	WNT2B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 2B (WNT2B), transcript variant WNT-2B2, mRNA.	255					chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGCGTGCACTCTCAGATTTC	0.624													-	113059825	CT	-	113059824	7	5	7	1	0	1	0	1	0	0	0	0	17489	565	20	0	910	0	WNT2B	1	113059824	Frame_Shift_Del	DEL	CT	TCGA-02-2485-01A-01D-1494-08	89948845	113059824	136190797	2	416											
FLG	2312	broad.mit.edu	37	chr1	152279764	152279764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggaagcttcatggtgaCgcgaccctgagtgcctggag	9	7	16	9	2	1	3	1	2	0	1	1	7	1	5	2	3	2	1	2	3	1	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr1:152279764C>T	uc001ezu.1	-	2	7634	c.7598G>A	c.(7597-7599)cGt>cAt	p.R2533H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2533	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2532S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCATGGTGACGCGACCCTGA	0.592									Ichthyosis				T	152279764	C	T	152279764	3	4	7	1	0	0	0	0	1	0	0	0	5971	536	19	1	4591	1	FLG	1	152279764	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	39219940	152279764	96970857	3	417											
FNDC4	64838	broad.mit.edu	37	chr2	27716857	27716857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagttcggaagtgcacccGgggccctgggggactctctc	6	7	16	12	2	1	1	0	0	1	1	4	4	1	3	2	5	1	2	2	5	1	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:27716857G>A	uc002rkx.3	-	3	800	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	GCKR_uc002rky.3_5'Flank|GCKR_uc010ezd.3_5'Flank|GCKR_uc010ylu.2_5'Flank	NM_022823	NP_073734	Q9H6D8	FNDC4_HUMAN	Homo sapiens fibronectin type III domain containing 4 (FNDC4), mRNA.	132	Fibronectin type-III.					integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|prostate(1)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					AAGTGCACCCGGGGCCCTGGG	0.607													A	27716857	G	A	27716857	3	1	7	1	0	0	0	0	1	0	0	0	6020	1115	39	1	326	1	FNDC4	2	27716857	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		27716857	215482516	4	418											
SCN3A	6328	broad.mit.edu	37	chr2	166019327	166019327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcagggcccccacaaTggtctttaaacctgcagaga	11	8	10	12	0	2	1	1	0	1	1	2	3	2	2	3	3	2	1	3	3	3	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:166019327T>C	uc002ucx.3	-	7	1198	c.706A>G	c.(706-708)Att>Gtt	p.I236V	SCN3A_uc002ucy.3_Missense_Mutation_p.I236V|SCN3A_uc002ucz.3_Missense_Mutation_p.I236V|SCN3A_uc002uda.1_Missense_Mutation_p.I105V|SCN3A_uc002udb.1_Missense_Mutation_p.I105V	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	236						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GCCCCCACAATGGTCTTTAAA	0.453													C	166019327	T	C	166019327	3	2	7	1	0	0	0	0	1	0	0	0	14011	1464	51	3	5380	3	SCN3A	2	166019327	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08	138302470	166019327	77180046	5	419											
ZNF804A	91752	broad.mit.edu	37	chr2	185802513	185802513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaccagaagaatttttgaGgccaccaagtacttcagttg	12	13	8	8	0	1	3	1	1	0	2	1	3	1	3	3	1	2	2	3	1	5	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:185802513G>A	uc002uph.3	+	3	2984	c.2390G>A	c.(2389-2391)aGg>aAg	p.R797K		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	797						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						GAATTTTTGAGGCCACCAAGT	0.383													A	185802513	G	A	185802513	3	1	7	1	0	0	0	0	1	0	0	0	18269	1000	35	2	2404	2	ZNF804A	2	185802513	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	19783186	185802513	57396860	6	420											
ANKRD44	91526	broad.mit.edu	37	chr2	197863059	197863059	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattttaaattcatttacatActttactacaagccaaatgt	15	17	2	7	0	1	0	1	0	0	0	1	0	1	0	1	0	5	0	1	0	9	10			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:197863059A>G	uc021vuj.1	-	25	2941	c.2748_splice	c.e25+1	p.K916_splice	ANKRD44_uc002utz.4_Splice_Site_p.K623_splice|ANKRD44_uc021vuk.1_Splice_Site_p.K891_splice	NM_001195144	NP_001182073	Q8N8A2	ANR44_HUMAN	Homo sapiens ankyrin repeat domain 44 (ANKRD44), transcript variant A, mRNA.	916							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCATTTACATACTTTACTACA	0.333													G	197863059	A	G	197863059	5	3	7	1	0	0	0	0	0	0	1	0	672	405	14	3	92	3	ANKRD44	2	197863059	Splice_Site	SNP	A	TCGA-02-2485-01A-01D-1494-08	12060546	197863059	45336314	7	421											
COL6A3	1293	broad.mit.edu	37	chr2	238249201	238249201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtcgtttggctcactggcGaaggtgtatacctccttgat	7	13	11	10	3	1	1	1	1	0	0	3	2	2	1	2	3	1	3	2	3	3	4	rs113423040		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr2:238249201G>A	uc002vwl.2	-	37	8643	c.8358C>T	c.(8356-8358)ttC>ttT	p.F2786F	COL6A3_uc002vwo.2_Silent_p.F2580F|COL6A3_uc010znj.1_Silent_p.F2179F|COL6A3_uc002vwj.2_Silent_p.F167F	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2786	Nonhelical region.|VWFA 12.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCACTGGCGAAGGTGTATA	0.547													A	238249201	G	A	238249201	2	1	7	1	0	0	0	0	0	0	0	1	3732	1049	37	1		1	COL6A3	2	238249201	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	40386142	238249201	4950172	8	422											
CNTN4	152330	broad.mit.edu	37	chr3	3076350	3076350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgtgacaatagaCgaaatcacagataccactgc	15	6	9	11	1	1	4	1	1	0	3	1	5	1	4	2	1	2	1	2	1	4	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:3076350C>T	uc003bpc.3	+	16	2157	c.1818C>T	c.(1816-1818)gaC>gaT	p.D606D	CNTN4_uc003bpb.1_Silent_p.D277D|CNTN4_uc021wsg.1_Silent_p.D606D|CNTN4_uc003bpd.1_Silent_p.D606D|CNTN4_uc003bpe.3_Silent_p.D278D|CNTN4_uc003bpf.3_Silent_p.D277D	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	606	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGACAATAGACGAAATCACAG	0.537													T	3076350	C	T	3076350	2	4	7	1	0	0	0	0	0	0	0	1	3674	535	19	1		1	CNTN4	3	3076350	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		3076350	194946080	9	423											
COLQ	8292	broad.mit.edu	37	chr3	15512054	15512054	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccttacctgcttgcctcGttttcctggtcttcctgtgg	2	17	9	13	1	1	0	0	0	1	0	5	1	4	0	5	2	3	2	5	2	1	5			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:15512054G>A	uc003bzx.3	-	10	832	c.706C>T	c.(706-708)Cga>Tga	p.R236*	COLQ_uc003bzv.3_Nonsense_Mutation_p.R226*|COLQ_uc010heo.3_Nonsense_Mutation_p.R202*|COLQ_uc003cad.1_Non-coding_Transcript|COLQ_uc003cae.1_Nonsense_Mutation_p.R95*	NM_005677	NP_005668	Q9Y215	COLQ_HUMAN	Homo sapiens collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ), transcript variant I, mRNA.	236	Collagen-like 1.|Heparan sulfate proteoglycan binding (Potential).				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						TGCTTGCCTCGTTTTCCTGGT	0.552													A	15512054	G	A	15512054	4	1	7	1	0	0	0	0	0	1	0	0	3744	1153	40	1	689	1	COLQ	3	15512054	Nonsense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	12435704	15512054	182510376	10	424											
ROBO1	6091	broad.mit.edu	37	chr3	79639041	79639042	+	Frame_Shift_Del	DEL	AG	AG	-																															agtgatatcatgaccaaaaaAggaacatgtttccatttcat																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:79639041_79639042delAG	uc003dqe.2	-	1	228_229	c.20_21delCT	c.(19-21)cctfs	p.P7fs		NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	7					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.P7H(3)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGACCAAAAAAGGAACATGTTT	0.381													-	79639042	AG	-	79639041	7	5	7	1	0	1	0	1	0	0	0	0	13604	59	3	0	5126	0	ROBO1	3	79639041	Frame_Shift_Del	DEL	AG	TCGA-02-2485-01A-01D-1494-08	64126987	79639041	118383389	11	425											
PIK3CA	5290	broad.mit.edu	37	chr3	178916921	178916921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttttaaaagtaattgAaccagtaggcaaccgtgaag	15	10	8	8	1	0	2	0	2	0	0	0	2	0	2	3	1	2	3	3	1	7	6			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr3:178916921A>G	uc003fjk.3	+	1	465	c.308A>G	c.(307-309)gAa>gGa	p.E103G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	103	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAAGTAATTGAACCAGTAGGC	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916921	A	G	178916921	3	3	7	1	0	0	0	0	1	0	0	0	11990	246	9	3	310	3	PIK3CA	3	178916921	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	99277880	178916921	19105509	12	426											
HELT	391723	broad.mit.edu	37	chr4	185940979	185940979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactgcactccgctgattttCcccggggaagggaaaaaggt	10	8	12	11	2	0	1	0	1	0	0	2	3	2	3	3	4	1	2	3	4	3	2	rs147187823	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr4:185940979C>T	uc011ckq.2	+	2	466	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	HELT_uc011cko.2_Missense_Mutation_p.P71S|HELT_uc003ixa.3_Missense_Mutation_p.P71S|HELT_uc011ckp.1_Missense_Mutation_p.P15S	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	156							DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CGCTGATTTTCCCCGGGGAAG	0.632													T	185940979	C	T	185940979	3	4	7	1	0	0	0	0	1	0	0	0	7103	855	30	2	476	2	HELT	4	185940979	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		185940979	5213297	13	427											
SLCO6A1	133482	broad.mit.edu	37	chr5	101735262	101735262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaatatatacataccgcGtcatggccaagacgattggt	13	10	10	8	3	1	1	1	0	0	1	1	3	1	1	2	2	2	1	2	2	6	6	rs139495343	by1000genomes	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:101735262G>A	uc003knn.3	-	9	1983	c.1811C>T	c.(1810-1812)aCg>aTg	p.T604M	SLCO6A1_uc003kno.3_Missense_Mutation_p.T351M|SLCO6A1_uc003knp.3_Missense_Mutation_p.T604M|SLCO6A1_uc003knq.3_Missense_Mutation_p.T542M	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	604						integral to membrane|plasma membrane	transporter activity	p.M603I(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TACATACCGCGTCATGGCCAA	0.284													A	101735262	G	A	101735262	3	1	7	1	0	0	0	0	1	0	0	0	14826	1145	40	1	364	1	SLCO6A1	5	101735262	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		101735262	79179998	14	428											
REEP2	51308	broad.mit.edu	37	chr5	137781275	137781275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaacccatcaaaaaagcGcccaaagctgaggtgagggc	15	3	11	12	1	1	2	1	2	0	0	1	2	1	2	3	2	3	1	3	2	5	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:137781275G>A	uc003lda.3	+	6	806	c.684G>A	c.(682-684)gcG>gcA	p.A228A	REEP2_uc003lcz.3_Silent_p.A226A|REEP2_uc011cyt.2_Silent_p.A187A	NM_016606	NP_057690	Q9BRK0	REEP2_HUMAN	Homo sapiens receptor accessory protein 2 (REEP2), mRNA.	226						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCAAAAAAGCGCCCAAAGCTG	0.592													A	137781275	G	A	137781275	2	1	7	1	0	0	0	0	0	0	0	1	13293	1074	38	1		1	REEP2	5	137781275	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	36046013	137781275	43133985	15	429											
PCDHAC2	56137	broad.mit.edu	37	chr5	140257259	140257259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgagccggtgcgcgccGggcaagcccacgctggtgtg	5	5	17	14	6	0	1	0	1	0	0	0	1	0	1	4	3	3	2	4	3	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:140257259G>A	uc003lic.2	+	0	2329	c.2202G>A	c.(2200-2202)ccG>ccA	p.P734P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.P734P	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCCGGGCAAGCCCA	0.682													A	140257259	G	A	140257259	2	1	7	1	0	0	0	0	0	0	0	1	11609	1103	39	1		1	PCDHAC2	5	140257259	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08	2475984	140257259	40658001	16	430											
MAML1	9794	broad.mit.edu	37	chr5	179192466	179192466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgggagttgccatctcttCcaatggactgcctccagcct	6	12	9	14	0	2	0	0	0	2	0	5	2	4	2	5	2	3	1	5	2	1	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr5:179192466C>A	uc003mkm.3	+	1	718	c.455C>A	c.(454-456)tCc>tAc	p.S152Y	MAML1_uc003mkn.1_Missense_Mutation_p.S152Y	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	152					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCATCTCTTCCAATGGACTG	0.602													A	179192466	C	A	179192466	3	1	7	1	0	0	0	0	1	0	0	0	9280	855	30	4	461	4	MAML1	5	179192466	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	38935207	179192466	1722794	17	431											
DSP	1832	broad.mit.edu	37	chr6	7583891	7583891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcccagattgcttcaggGggtgtagtagaccctgtgaa	10	9	14	8	0	1	3	1	1	0	2	1	4	1	3	2	2	2	3	2	2	4	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:7583891G>A	uc003mxp.1	+	23	6675	c.6396G>A	c.(6394-6396)ggG>ggA	p.G2132G	DSP_uc003mxq.1_Silent_p.G1533G|DSP_uc021yle.1_Silent_p.G1689G	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2132	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTGCTTCAGGGGGTGTAGTAG	0.473													A	7583891	G	A	7583891	2	1	7	1	0	0	0	0	0	0	0	1	4820	1219	43	2		2	DSP	6	7583891	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		7583891	163531176	18	432											
JARID2	3720	broad.mit.edu	37	chr6	15520428	15520428	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagcgacagtggacgtgccCccctcccgtctgtcagcctc	6	7	11	17	3	2	1	1	0	1	1	4	3	3	2	5	1	3	0	5	1	0	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:15520428C>T	uc003nbj.3	+	17	3931	c.3687C>T	c.(3685-3687)ccC>ccT	p.P1229P	JARID2_uc011div.2_Silent_p.P1057P	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	1229					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TGGACGTGCCCCCCTCCCGTC	0.488													T	15520428	C	T	15520428	2	4	7	1	0	0	0	0	0	0	0	1	8003	610	22	2		2	JARID2	6	15520428	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	7936537	15520428	155594639	19	433											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199947	26199947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggtccaccccgacaccgGcatctcatccaaggccatgg	9	5	10	17	2	1	0	1	0	1	0	4	1	3	0	6	4	0	2	6	4	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:26199947G>A	uc003ngx.3	+	0	161	c.161G>A	c.(160-162)gGc>gAc	p.G54D	HIST1H3D_uc003ngv.3_5'Flank|HIST1H3D_uc021ymt.1_5'Flank|HIST1H2AD_uc003ngw.3_5'Flank	NM_003522	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2bf (HIST1H2BF), mRNA.	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				CCCGACACCGGCATCTCATCC	0.567													A	26199947	G	A	26199947	3	1	7	1	0	0	0	0	1	0	0	0	7200	1203	42	2	163	2	HIST1H2BF	6	26199947	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	10679519	26199947	144915120	20	434											
LGSN	51557	broad.mit.edu	37	chr6	64004847	64004847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatatccgtttctcccActtcagttgaacaaacatat	12	13	5	11	1	2	1	1	1	1	0	4	2	3	2	2	1	2	2	2	1	4	5			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:64004847A>C	uc003peh.3	-	1	168	c.134T>G	c.(133-135)gTg>gGg	p.V45G	LGSN_uc003pei.3_Missense_Mutation_p.V45G|LGSN_uc003pej.1_Missense_Mutation_p.V45G	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	45					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CGTTTCTCCCACTTCAGTTGA	0.393													C	64004847	A	C	64004847	3	2	7	1	0	0	0	0	1	0	0	0	8819	159	6	5	1407	5	LGSN	6	64004847	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	37804900	64004847	107110220	21	435											
HECA	51696	broad.mit.edu	37	chr6	139487771	139487771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaagaagtctggctccGagaagaacacagggaggcct	16	4	13	8	1	1	4	0	0	1	4	2	6	2	5	2	3	1	1	2	3	6	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr6:139487771G>A	uc003qin.3	+	1	907	c.622G>A	c.(622-624)Gag>Aag	p.E208K		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	208					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GTCTGGCTCCGAGAAGAACAC	0.592													A	139487771	G	A	139487771	3	1	7	1	0	0	0	0	1	0	0	0	7093	1059	37	1	628	1	HECA	6	139487771	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	75482924	139487771	31627296	22	436											
NOD1	10392	broad.mit.edu	37	chr7	30492358	30492358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaatttgacccctgcGtctagccggcccgtggccca	9	7	11	14	3	1	3	0	1	1	2	1	3	1	3	5	2	2	0	5	2	4	2	rs150842987		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:30492358G>A	uc003tav.3	-	5	1198	c.675C>T	c.(673-675)gaC>gaT	p.D225D	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	225	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGACCCCTGCGTCTAGCCGGC	0.577													A	30492358	G	A	30492358	2	1	7	1	0	0	0	0	0	0	0	1	10592	1136	40	1		1	NOD1	7	30492358	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		30492358	128646305	23	437											
VPS41	27072	broad.mit.edu	37	chr7	38835094	38835094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccccagccaataatcaGtgtcacattgtccttccagc	10	10	6	15	0	2	0	2	0	0	0	5	0	5	0	5	0	2	0	5	0	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:38835094G>C	uc003tgy.3	-	8	714	c.688C>G	c.(688-690)Ctg>Gtg	p.L230V	VPS41_uc003tgz.3_Missense_Mutation_p.L205V|VPS41_uc010kxn.3_Intron	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	230					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCAATAATCAGTGTCACATTG	0.468													C	38835094	G	C	38835094	3	2	7	1	0	0	0	0	1	0	0	0	17312	1020	36	4	1960	4	VPS41	7	38835094	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	8342736	38835094	120303569	24	438											
POM121L12	285877	broad.mit.edu	37	chr7	53103860	53103860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcaggccgccccgccGcccaggagctcctggacccc	4	2	12	23	4	0	0	0	0	0	0	1	2	1	2	10	3	1	2	10	3	0	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53103860G>A	uc003tpz.3	+	0	512	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	166								p.A165A(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ccgccccgccgcccAGGAGCT	0.721													A	53103860	G	A	53103860	3	1	7	1	0	0	0	0	1	0	0	0	12318	1087	38	1	498	1	POM121L12	7	53103860	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	14268766	53103860	106034803	25	439											
POM121L12	285877	broad.mit.edu	37	chr7	53104151	53104151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagcccgccccatccGccatctgggacttctgggag	5	8	12	16	2	2	0	0	0	2	0	4	2	4	2	6	3	1	0	6	3	0	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:53104151G>A	uc003tpz.3	+	0	803	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	263										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGCCCCATCCGCCATCTGGGA	0.662													A	53104151	G	A	53104151	3	1	7	1	0	0	0	0	1	0	0	0	12318	1087	38	1	789	1	POM121L12	7	53104151	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	291	53104151	106034512	26	440											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221822	C	A	55221822	3	1	7	1	0	0	0	0	1	0	0	0	5006	739	26	4	892	4	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	2117671	55221822	103916841	27	441											
LRWD1	222229	broad.mit.edu	37	chr7	102106371	102106371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacctggagacgctgcCggacaacctgggcctgtccc	8	5	11	17	2	0	1	0	0	0	1	1	3	1	2	6	3	3	1	6	3	2	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:102106371C>T	uc003uzn.3	+	1	326	c.188C>T	c.(187-189)cCg>cTg	p.P63L	ALKBH4_uc003uzl.3_5'Flank|ALKBH4_uc003uzm.3_5'Flank	NM_152892	NP_690852	Q9UFC0	LRWD1_HUMAN	Homo sapiens leucine-rich repeats and WD repeat domain containing 1 (LRWD1), mRNA.	63					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding	p.P63L(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						GAGACGCTGCCGGACAACCTG	0.622													T	102106371	C	T	102106371	3	4	7	1	0	0	0	0	1	0	0	0	9117	652	23	1	194	1	LRWD1	7	102106371	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	46884549	102106371	57032292	28	442											
CHRM2	1129	broad.mit.edu	37	chr7	136700738	136700738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagcagcctgcaaaaaagAagcctcctccttcccgggaa	13	6	8	14	1	0	1	0	0	0	1	3	2	3	2	5	1	4	2	5	1	6	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr7:136700738A>G	uc003vtf.1	+	3	1749	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	CHRM2_uc003vtg.1_Missense_Mutation_p.K376E|CHRM2_uc003vti.1_Missense_Mutation_p.K376E|CHRM2_uc003vtm.1_Missense_Mutation_p.K376E|CHRM2_uc003vtj.1_Missense_Mutation_p.K376E|CHRM2_uc003vtk.1_Missense_Mutation_p.K376E|CHRM2_uc003vtl.1_Missense_Mutation_p.K376E|CHRM2_uc003vtn.1_Missense_Mutation_p.K376E|CHRM2_uc003vto.1_Missense_Mutation_p.K376E|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.K376E	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	376					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TGCAAAAAAGAAGCCTCCTCC	0.478													G	136700738	A	G	136700738	3	3	7	1	0	0	0	0	1	0	0	0	3407	247	9	3	1128	3	CHRM2	7	136700738	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	34594367	136700738	22437925	29	443											
RP1	6101	broad.mit.edu	37	chr8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttggccccaggcccaaCgatggatgaactctcctctt	9	11	8	13	1	2	1	0	1	2	0	3	3	2	2	4	3	2	0	4	3	3	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr8:55541829C>T	uc003xsd.1	+	3	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1796					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T1796M(2)|p.T1796T(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448													T	55541829	C	T	55541829	3	4	7	1	0	0	0	0	1	0	0	0	13623	536	19	1	5397	1	RP1	8	55541829	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		55541829	90822193	30	444											
DOCK8	81704	broad.mit.edu	37	chr9	286571	286571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggggacttcactgatgaCgacttggacgtggtgttcac	7	11	13	10	3	2	2	2	2	0	0	3	5	2	4	0	4	0	1	0	4	0	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:286571C>T	uc003zgf.2	+	2	379	c.267C>T	c.(265-267)gaC>gaT	p.D89D	DOCK8_uc011lls.1_Silent_p.D89D|DOCK8_uc022bcu.1_Silent_p.D21D|DOCK8_uc010mgv.3_Silent_p.D21D|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Silent_p.D21D|DOCK8_uc003zgg.3_Silent_p.D21D|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	89					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCACTGATGACGACTTGGACG	0.507													T	286571	C	T	286571	2	4	7	1	0	0	0	0	0	0	0	1	4732	535	19	1		1	DOCK8	9	286571	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		286571	140926860	31	445											
TMEM215	401498	broad.mit.edu	37	chr9	32784414	32784414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagctgctgtgggtccGcaaattgccctgcttccgga	7	9	13	12	3	0	0	0	0	0	0	2	3	2	1	3	2	5	4	3	2	2	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:32784414G>A	uc022bfh.1	+	0	233	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM215_uc003zri.4_Missense_Mutation_p.R78H	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	78						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTGTGGGTCCGCAAATTGCCC	0.597													A	32784414	G	A	32784414	3	1	7	1	0	0	0	0	1	0	0	0	16238	1087	38	1	235	1	TMEM215	9	32784414	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	32497843	32784414	108429017	32	446											
TDRD7	23424	broad.mit.edu	37	chr9	100227272	100227272	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggaggacgcctggttaCgggcacaggtcatctcaaca	10	6	13	12	3	2	0	2	0	1	0	3	3	2	2	2	5	2	2	2	5	2	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:100227272C>A	uc004axj.3	+	7	1816	c.1591C>A	c.(1591-1593)Cgg>Agg	p.R531R	TDRD7_uc011lux.2_Silent_p.R457R	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	531	Tudor 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CGCCTGGTTACGGGCACAGGT	0.423													A	100227272	C	A	100227272	2	1	7	1	0	0	0	0	0	0	0	1	15835	527	19	4		4	TDRD7	9	100227272	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	67442858	100227272	40986159	33	447											
TGFBR1	7046	broad.mit.edu	37	chr9	101900167	101900167	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgcttgttcagagaacaAttgcgagaactattgtgtta	12	14	9	6	1	1	2	1	0	0	2	1	4	1	2	0	0	4	3	0	0	5	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr9:101900167A>G	uc004azc.3	+	3	677	c.601A>G	c.(601-603)Att>Gtt	p.I201V	TGFBR1_uc004azd.3_Missense_Mutation_p.I124V|TGFBR1_uc004aze.3_Missense_Mutation_p.I205V|TGFBR1_uc011lvc.2_Missense_Mutation_p.I132V	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	201	GS.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TCAGAGAACAATTGCGAGAAC	0.358													G	101900167	A	G	101900167	3	3	7	1	0	0	0	0	1	0	0	0	15921	101	4	3	615	3	TGFBR1	9	101900167	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	1672895	101900167	39313264	34	448											
NRP1	8829	broad.mit.edu	37	chr10	33545336	33545336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaaaccatggagagaatgCccgatgaggatcggattcga	16	6	12	7	3	0	2	0	1	0	1	2	8	0	5	2	3	2	0	2	3	4	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:33545336C>T	uc001iwx.4	-	4	1245	c.722G>A	c.(721-723)gGc>gAc	p.G241D	NRP1_uc001iwv.4_Missense_Mutation_p.G241D|NRP1_uc001iwy.4_Missense_Mutation_p.G241D|NRP1_uc009xlz.3_Missense_Mutation_p.G241D|NRP1_uc001iww.4_Missense_Mutation_p.G60D|NRP1_uc001iwz.2_Missense_Mutation_p.G241D|NRP1_uc001ixa.2_Missense_Mutation_p.G241D|NRP1_uc001ixb.2_Missense_Mutation_p.G241D|NRP1_uc001ixc.1_Missense_Mutation_p.G241D	NM_003873	NP_003864	O14786	NRP1_HUMAN	Homo sapiens neuropilin 1 (NRP1), transcript variant 1, mRNA.	241	CUB 2.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGAGAGAATGCCCGATGAGGA	0.483													T	33545336	C	T	33545336	3	4	7	1	0	0	0	0	1	0	0	0	10736	739	26	2	2112	2	NRP1	10	33545336	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		33545336	101989411	35	449											
BMS1	9790	broad.mit.edu	37	chr10	43312886	43312888	+	In_Frame_Del	DEL	GAA	GAA	-																															tgtttgatgcagaatatgatGaaggagaaagcacatatttt																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:43312886_43312888delGAA	uc001jaj.3	+	14	2882_2884	c.2524_2526delGAA	c.(2524-2526)gaadel	p.E842del		NM_014753	NP_055568	Q14692	BMS1_HUMAN	Homo sapiens BMS1 homolog, ribosome assembly protein (yeast) (BMS1), mRNA.	842					ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AGAATATGATGAAGGAGAAAGCA	0.384													-	43312888	GAA	-	43312886	7	5	7	1	0	1	0	1	0	0	0	0	1478	1291	45	0	2578	0	BMS1	10	43312886	In_Frame_Del	DEL	GAA	TCGA-02-2485-01A-01D-1494-08	9767550	43312886	92221861	36	450											
CYP2C8	1558	broad.mit.edu	37	chr10	96827051	96827051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccatcccaaaattcCgcaaggttgtgagggagaaa	12	9	9	11	1	1	2	0	1	1	1	4	3	4	2	4	2	0	2	4	2	4	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:96827051C>T	uc001kkb.3	-	2	490	c.395G>A	c.(394-396)cGg>cAg	p.R132Q	CYP2C8_uc010qoa.2_Missense_Mutation_p.R62Q|CYP2C8_uc010qoc.2_Missense_Mutation_p.R30Q|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.R46Q|CYP2C8_uc021pwl.1_Missense_Mutation_p.R62Q|CYP2C8_uc010qod.1_Missense_Mutation_p.R46Q	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	132					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CCCAAAATTCCGCAAGGTTGT	0.483													T	96827051	C	T	96827051	3	4	7	1	0	0	0	0	1	0	0	0	4200	652	23	1	1105	1	CYP2C8	10	96827051	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	53514165	96827051	38707696	37	451											
NEURL	9148	broad.mit.edu	37	chr10	105331407	105331407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaaggcgctgcctgaGgagtttgccaatgagggcaa	9	7	16	9	1	0	2	0	2	0	0	0	3	0	3	3	4	2	3	3	4	3	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr10:105331407G>T	uc001kxh.3	+	2	887	c.477G>T	c.(475-477)gaG>gaT	p.E159D	NEURL_uc021pxn.1_Missense_Mutation_p.E142D	NM_004210	NP_004201	O76050	NEU1A_HUMAN	Homo sapiens neuralized homolog (Drosophila) (NEURL), mRNA.	159	NHR 1.				nervous system development	perinuclear region of cytoplasm	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	17				Epithelial(162;2.12e-09)|all cancers(201;6.99e-08)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CGCTGCCTGAGGAGTTTGCCA	0.612													T	105331407	G	T	105331407	3	4	7	1	0	0	0	0	1	0	0	0	10421	991	35	4	487	4	NEURL	10	105331407	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	8504356	105331407	30203340	38	452											
MUC2	4583	broad.mit.edu	37	chr11	1080301	1080301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtatatgacgacatcGgggacagtggctgcgttcct	8	9	13	11	4	0	1	0	1	0	0	2	3	1	2	2	3	1	4	2	3	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:1080301G>A	uc001lsx.1	+	7	1048	c.1021G>A	c.(1021-1023)Ggg>Agg	p.G341R		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	341	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGACGACATCGGGGACAGTGG	0.642													A	1080301	G	A	1080301	3	1	7	1	0	0	0	0	1	0	0	0	10051	1116	39	1	1051	1	MUC2	11	1080301	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		1080301	133926215	39	453											
OR5M11	219487	broad.mit.edu	37	chr11	56310330	56310330	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgcaaactctcctggacGttttcacactgtagcgcaga	11	10	9	11	2	2	2	1	0	1	2	3	3	2	3	1	1	3	4	1	1	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:56310330G>C	uc010rjl.2	-	0	404	c.404C>G	c.(403-405)aCg>aGg	p.T135R	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						TCTCCTGGACGTTTTCACACT	0.498													C	56310330	G	C	56310330	3	2	7	1	0	0	0	0	1	0	0	0	11250	1145	40	4	516	4	OR5M11	11	56310330	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	55230029	56310330	78696186	40	454											
UVRAG	7405	broad.mit.edu	37	chr11	75590966	75590966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaattatgccagaccGtcttgatacatctgtgtctt	8	17	8	8	1	3	2	0	1	3	1	3	3	3	3	2	1	2	0	2	1	3	6			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr11:75590966G>A	uc001oxc.3	+	3	555	c.314G>A	c.(313-315)cGt>cAt	p.R105H	UVRAG_uc010rrw.2_Missense_Mutation_p.R4H	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	105	C2.				DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						ATGCCAGACCGTCTTGATACA	0.423													A	75590966	G	A	75590966	3	1	7	1	0	0	0	0	1	0	0	0	17210	1145	40	1	328	1	UVRAG	11	75590966	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	19280636	75590966	59415550	41	455											
NOP2	4839	broad.mit.edu	37	chr12	6675301	6675301	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcctcagagttggagTcagctccatagtcatctacc	9	11	7	14	0	5	1	4	0	1	1	7	2	7	2	4	1	2	2	4	1	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr12:6675301T>G	uc021qtw.1	-	4	608	c.428A>C	c.(427-429)gAc>gCc	p.D143A	NOP2_uc009zeq.2_5'Flank|NOP2_uc021qtx.1_Missense_Mutation_p.D143A|NOP2_uc021qty.1_Missense_Mutation_p.D147A|NOP2_uc021qtz.1_Missense_Mutation_p.D147A|NOP2_uc021qua.1_Missense_Mutation_p.D147A	NM_001033714	NP_006161	P46087	NOP2_HUMAN	Homo sapiens NOP2 nucleolar protein homolog (yeast) (NOP2), transcript variant 2, mRNA.	147					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						AGAGTTGGAGTCAGCTCCATA	0.488													G	6675301	T	G	6675301	3	3	7	1	0	0	0	0	1	0	0	0	10614	1667	58	5	2046	5	NOP2	12	6675301	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08		6675301	127176594	42	456											
ATP8A2	51761	broad.mit.edu	37	chr13	26349058	26349058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtgaccaagtgcatcttGtactgcttctataagaacgt	10	12	10	9	2	2	2	0	1	2	1	2	2	2	2	1	1	4	3	1	1	5	5			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr13:26349058G>T	uc001uqk.3	+	26	2782	c.2640G>T	c.(2638-2640)ttG>ttT	p.L880F	ATP8A2_uc010tdi.2_Missense_Mutation_p.L840F|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.L430F	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	840					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGTGCATCTTGTACTGCTTCT	0.388													T	26349058	G	T	26349058	3	4	7	1	0	0	0	0	1	0	0	0	1198	1368	48	4	2746	4	ATP8A2	13	26349058	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		26349058	88820820	43	457											
SIX4	51804	broad.mit.edu	37	chr14	61189964	61189964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggaggggttcctgtcgcGctgccggcggttcttgaacc	3	10	15	13	5	1	1	0	1	1	0	4	2	2	2	3	5	2	3	3	5	1	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:61189964G>A	uc001xfc.3	-	0	889	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	SIX4_uc010app.1_Missense_Mutation_p.R269C	NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	277						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TTCCTGTCGCGCTGCCGGCGG	0.637													A	61189964	G	A	61189964	3	1	7	1	0	0	0	0	1	0	0	0	14443	1087	38	1	1528	1	SIX4	14	61189964	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		61189964	46159576	44	458											
ACOT2	641371	broad.mit.edu	37	chr14	74008216	74008216	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgggccctttcctggCattgtggacatgttcggaac	7	11	12	11	1	0	0	0	0	0	0	2	3	1	2	3	4	2	2	3	4	2	3	rs142030871	by1000genomes	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr14:74008216C>G	uc001xol.1	+	1	675	c.477C>G	c.(475-477)ggC>ggG	p.G159G	HEATR4_uc021rwe.1_Intron|HEATR4_uc021rwf.1_Intron|ACOT2_uc010tuc.2_Silent_p.G159G	NM_001037161	NP_001032238	P49753	ACOT2_HUMAN	Homo sapiens acyl-CoA thioesterase 1 (ACOT1), mRNA.	221					acyl-CoA metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process	mitochondrion	carboxylesterase activity|palmitoyl-CoA hydrolase activity|protein binding	p.G159G(1)		breast(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.0033)|OV - Ovarian serous cystadenocarcinoma(108;0.0639)		CCTTTCCTGGCATTGTGGACA	0.463													G	74008216	C	G	74008216	2	3	7	1	0	0	0	0	0	0	0	1	152	697	25	4		4	ACOT2	14	74008216	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	12818252	74008216	33341324	45	459											
AGBL1	123624	broad.mit.edu	37	chr15	86838560	86838560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgttctctgccagacGctgggagggaatccgtgtcc	8	9	13	11	2	1	2	0	0	1	2	4	4	3	4	3	2	1	2	3	2	2	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr15:86838560G>A	uc002blz.1	+	15	2237	c.2157G>A	c.(2155-2157)acG>acA	p.T719T	AGBL1_uc002bma.1_Silent_p.T450T|AGBL1_uc002bmb.1_Silent_p.T413T	NM_152336	NP_689549	Q96MI9	CBPC4_HUMAN	Homo sapiens ATP/GTP binding protein-like 1 (AGBL1), mRNA.	719					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	p.T719M(1)		NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTGCCAGACGCTGGGAGGGA	0.507													A	86838560	G	A	86838560	2	1	7	1	0	0	0	0	0	0	0	1	375	1074	38	1		1	AGBL1	15	86838560	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		86838560	15692832	46	460											
ACSM2B	348158	broad.mit.edu	37	chr16	20548636	20548636	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctcgaagtttggttcGttgaattttccctgtgacag	6	17	10	8	2	1	2	0	2	1	0	4	3	2	2	1	1	0	3	1	1	2	6			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:20548636G>A	uc002dhj.4	-	14	1888	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	ACSM2B_uc002dhk.4_Nonsense_Mutation_p.R560*	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	560					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AGTTTGGTTCGTTGAATTTTC	0.473													A	20548636	G	A	20548636	4	1	7	1	0	0	0	0	0	1	0	0	184	1153	40	1	59	1	ACSM2B	16	20548636	Nonsense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		20548636	69806117	47	461											
CACNG3	10368	broad.mit.edu	37	chr16	24366257	24366257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaccgcagcagacacaaCgtcattctcagcgcgggcat	10	7	9	15	4	2	1	2	0	1	1	4	1	3	1	2	1	3	3	2	1	1	2	rs147734423		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:24366257C>T	uc002dmf.3	+	2	1601	c.399C>T	c.(397-399)aaC>aaT	p.N133N		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	133					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)		GCAGACACAACGTCATTCTCA	0.587													T	24366257	C	T	24366257	2	4	7	1	0	0	0	0	0	0	0	1	2584	535	19	1		1	CACNG3	16	24366257	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	3817621	24366257	65988496	48	462											
ITGAM	3684	broad.mit.edu	37	chr16	31286996	31286996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccattcagaaccagcttCgggagaagatctttgcgatc	12	9	10	10	2	2	4	1	0	1	4	4	6	2	4	2	1	3	1	2	1	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:31286996C>T	uc002ebr.3	+	8	1083	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	ITGAM_uc002ebq.3_Missense_Mutation_p.R329W|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	329					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAACCAGCTTCGGGAGAAGAT	0.542													T	31286996	C	T	31286996	3	4	7	1	0	0	0	0	1	0	0	0	7945	875	31	1	1019	1	ITGAM	16	31286996	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	6920739	31286996	59067757	49	463											
HYDIN	54768	broad.mit.edu	37	chr16	71004595	71004595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctctagaccttgcccaCgtgccaggagggtaagcttt	7	10	13	11	1	1	1	0	0	1	1	1	2	1	2	3	3	3	3	3	3	2	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr16:71004595C>T	uc002ezr.3	-	35	5595	c.5444G>A	c.(5443-5445)cGt>cAt	p.R1815H		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1816										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ACCTTGCCCACGTGCCAGGAG	0.507													T	71004595	C	T	71004595	3	4	7	1	0	0	0	0	1	0	0	0	7525	536	19	1	10122	1	HYDIN	16	71004595	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	39717599	71004595	19350158	50	464											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	7	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08		7577538	73617672	51	465											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:7578550G>T	uc002gim.2	-	4	574	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_uc002gig.1_Missense_Mutation_p.S127Y|TP53_uc002gih.3_Missense_Mutation_p.S127Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.S127Y|TP53_uc010cnh.1_Missense_Mutation_p.S127Y|TP53_uc002gij.2_Missense_Mutation_p.S127Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.S34Y|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.S88Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(44)|p.S127Y(16)|p.Y126_K132delYSPALNK(12)|p.S127C(10)|p.Y126*(10)|p.0?(8)|p.S127T(6)|p.Y126N(6)|p.Y126_N131delYSPALN(6)|p.Y126D(5)|p.S127P(4)|p.Y126C(4)|p.A129fs*20(3)|p.S127_Q136del10(2)|p.S127fs*42(2)|p.Y126fs*11(2)|p.P128fs*42(2)|p.S34C(2)|p.Y126fs*44(2)|p.Y126S(2)|p.Y126fs*18(2)|p.S127fs*36(2)|p.Y126Y(1)|p.S127S(1)|p.T125_Y126insX(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.S127fs*22(1)|p.Y126_S127insQPHH(1)|p.S34F(1)|p.?(1)|p.A36fs*20(1)|p.P13fs*18(1)|p.P128fs*18(1)|p.Y126fs*24(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)		GAGGGCAGGGGAGTACTGTAG	0.552		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)			T	7578550	G	T	7578550	3	4	7	1	0	0	0	0	1	0	0	0	16482	1174	41	4	918	4	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	1012	7578550	73616660	52	466											
WNT3	7473	broad.mit.edu	37	chr17	44851175	44851175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgatctcgatgtaatTgcggcagaagcgcagttgct	9	10	14	8	3	1	2	0	1	1	1	2	3	1	2	0	2	3	6	0	2	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:44851175T>C	uc002ikv.2	-	1	300	c.181A>G	c.(181-183)Aat>Gat	p.N61D		NM_030753	NP_110380	P56703	WNT3_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 3 (WNT3), mRNA.	61					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCGATGTAATTGCGGCAGAAG	0.657													C	44851175	T	C	44851175	3	2	7	1	0	0	0	0	1	0	0	0	17490	1812	63	3	898	3	WNT3	17	44851175	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08	37272625	44851175	36344035	53	467											
C17orf47	284083	broad.mit.edu	37	chr17	56621053	56621053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgattgtaagttattCttctggtcttgaaaactcaa	11	18	7	5	0	4	2	1	2	3	0	4	2	4	2	0	1	1	2	0	1	5	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:56621053C>A	uc002iwq.2	-	0	681	c.495G>T	c.(493-495)aaG>aaT	p.K165N	SEPT4_uc010wny.2_5'Flank|SEPT4_uc010wnx.2_5'Flank	NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	165										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTAAGTTATTCTTCTGGTCTT	0.478													A	56621053	C	A	56621053	3	1	7	1	0	0	0	0	1	0	0	0	1874	912	32	4	1225	4	C17orf47	17	56621053	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	11769878	56621053	24574157	54	468											
CD300A	11314	broad.mit.edu	37	chr17	72469900	72469900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacctcagcttcacagtgaCcctggagaatctcacagagg	13	7	9	12	0	3	3	3	1	1	2	4	4	3	3	2	2	2	1	2	2	2	1			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr17:72469900C>T	uc002jkv.3	+	1	587	c.266C>T	c.(265-267)aCc>aTc	p.T89I	CD300A_uc002jkw.3_Intron|CD300A_uc010dfr.3_Intron|CD300A_uc010dfs.3_Intron	NM_007261	NP_009192	Q9UGN4	CLM8_HUMAN	Homo sapiens CD300a molecule (CD300A), mRNA.	89	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						TTCACAGTGACCCTGGAGAAT	0.537													T	72469900	C	T	72469900	3	4	7	1	0	0	0	0	1	0	0	0	3026	507	18	2	272	2	CD300A	17	72469900	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	15848847	72469900	8725310	55	469											
THEG	51298	broad.mit.edu	37	chr19	375850	375850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcggggtctgtgacccGccggctctcgtacacagagc	5	8	14	14	5	2	2	0	1	2	1	4	2	2	2	2	3	2	3	2	3	1	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:375850G>A	uc002lol.3	-	0	164	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	THEG_uc002lom.3_Missense_Mutation_p.R41W	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	41					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TCTGTGACCCGCCGGCTCTCG	0.672													A	375850	G	A	375850	3	1	7	1	0	0	0	0	1	0	0	0	15957	1086	38	1	1050	1	THEG	19	375850	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08		375850	58753133	56	470											
EEF2	1938	broad.mit.edu	37	chr19	3980665	3980665	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttggcaccattttggaaAtatacatcataagagggcct	13	11	10	7	0	1	1	1	0	0	1	1	2	1	2	2	4	1	2	2	4	4	6			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:3980665A>C	uc002lze.3	-	8	1276	c.1193T>G	c.(1192-1194)aTt>aGt	p.I398S		NM_001961	NP_001952	P13639	EF2_HUMAN	Homo sapiens eukaryotic translation elongation factor 2 (EEF2), mRNA.	398						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATTTTGGAAATATACATCAT	0.527													C	3980665	A	C	3980665	3	2	7	1	0	0	0	0	1	0	0	0	4968	101	4	5	1411	5	EEF2	19	3980665	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	3604815	3980665	55148318	57	471											
MUC16	94025	broad.mit.edu	37	chr19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaattgtcccagaaaccGttgtgctggtttctgcagga	8	12	13	8	1	1	1	0	0	1	1	2	3	2	3	2	3	3	4	2	3	2	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9046871G>A	uc002mkp.3	-	4	34964	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11589	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						CCCAGAAACCGTTGTGCTGGT	0.522													A	9046871	G	A	9046871	3	1	7	1	0	0	0	0	1	0	0	0	10049	1145	40	1	9083	1	MUC16	19	9046871	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	5066206	9046871	50082112	58	472											
OR7E24	26648	broad.mit.edu	37	chr19	9361873	9361873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgggctgttcctgtccAtgtacctggtcacggtgctg	3	13	13	12	2	1	0	1	0	0	0	4	0	3	0	3	3	2	5	3	3	1	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:9361873A>G	uc002mlb.1	+	0	154	c.154A>G	c.(154-156)Atg>Gtg	p.M52V		NM_001079935	NP_001073404	Q6IFN5	O7E24_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily E, member 24 (OR7E24), mRNA.	52					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S51*(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						GTTCCTGTCCATGTACCTGGT	0.577													G	9361873	A	G	9361873	3	3	7	1	0	0	0	0	1	0	0	0	11297	217	8	3	156	3	OR7E24	19	9361873	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	315002	9361873	49767110	59	473											
ATP13A1	57130	broad.mit.edu	37	chr19	19756294	19756294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacgcggtcggccaggagCgccaggcagaagtccaggag	10	2	18	11	4	0	1	0	0	0	1	2	4	1	4	3	6	1	1	3	6	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:19756294C>T	uc002nnh.4	-	25	3580	c.3552G>A	c.(3550-3552)gcG>gcA	p.A1184A	GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Silent_p.A324A|ATP13A1_uc002nnf.4_Silent_p.A552A|ATP13A1_uc002nng.3_Silent_p.A1066A	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1184					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CGGCCAGGAGCGCCAGGCAGA	0.647													T	19756294	C	T	19756294	2	4	7	1	0	0	0	0	0	0	0	1	1128	755	27	1		1	ATP13A1	19	19756294	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08	10394421	19756294	39372689	60	474											
ZNF681	148213	broad.mit.edu	37	chr19	23927494	23927494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattaaaggctttgtcacaTtcttcacgtttgtagggatt	9	17	9	6	1	3	1	2	1	1	0	3	2	3	2	0	2	0	3	0	2	3	7			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:23927494T>C	uc002nrk.4	-	3	1000	c.858A>G	c.(856-858)gaA>gaG	p.E286E	ZNF681_uc002nrl.4_Silent_p.E217E|ZNF681_uc002nrj.4_Silent_p.E217E	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTTTGTCACATTCTTCACGTT	0.363													C	23927494	T	C	23927494	2	2	7	1	0	0	0	0	0	0	0	1	18189	1490	52	3		3	ZNF681	19	23927494	Silent	SNP	T	TCGA-02-2485-01A-01D-1494-08	4171200	23927494	35201489	61	475											
ZNF571	51276	broad.mit.edu	37	chr19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-																															cctgaatgaactctcaggtgGtaagtaagttgtgagccacg																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:38056190_38056193delGTAA	uc002ogs.1	-						LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs			Q7Z3V5	ZN571_HUMAN	Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377													-	38056193	GTAA	-	38056190	7	5	7	1	0	1	0	1	0	0	0	0	18104	1256	44	0	693	0	ZNF571	19	38056190	Frame_Shift_Del	DEL	GTAA	TCGA-02-2485-01A-01D-1494-08	14128696	38056190	21072793	62	476											
EXOSC5	56915	broad.mit.edu	37	chr19	41903139	41903139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagcaggttctgttcgcagGcaaagtgccggaggctgcag	9	7	15	10	2	1	0	0	0	1	0	2	1	1	1	1	4	3	7	1	4	1	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:41903139G>A	uc002oqo.3	-	0	118	c.95C>T	c.(94-96)gCc>gTc	p.A32V	BCKDHA_uc002oqm.4_Intron|BCKDHA_uc002oqp.2_5'Flank|BCKDHA_uc002oqr.3_5'Flank|BCKDHA_uc002oqq.3_5'Flank|BCKDHA_uc010xvz.2_5'Flank	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	32					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CTGTTCGCAGGCAAAGTGCCG	0.582													A	41903139	G	A	41903139	3	1	7	1	0	0	0	0	1	0	0	0	5359	1203	42	2	636	2	EXOSC5	19	41903139	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	3846949	41903139	17225844	63	477											
IRGC	56269	broad.mit.edu	37	chr19	44222975	44222975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgcggctctcacgggcGtcatggagaccacgatgcaa	8	6	14	13	5	2	1	2	0	1	1	3	3	2	1	1	4	1	2	1	4	1	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:44222975G>A	uc002oxh.3	+	1	412	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	IRGC_uc021uvh.1_Missense_Mutation_p.V89I	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	89						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.G88G(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				TCTCACGGGCGTCATGGAGAC	0.701													A	44222975	G	A	44222975	3	1	7	1	0	0	0	0	1	0	0	0	7896	1145	40	1	267	1	IRGC	19	44222975	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	2319836	44222975	14906008	64	478											
EXOC3L2	90332	broad.mit.edu	37	chr19	45728158	45728158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccccacccgggccaggcGctcggccagagctctgtggg	4	4	17	16	3	1	1	0	0	1	1	2	1	1	1	5	5	1	2	5	5	0	0			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:45728158G>A	uc002pay.1	-	5	459	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C		NM_138568	NP_612635	Q2M3D2	EX3L2_HUMAN	Homo sapiens exocyst complex component 3-like 2 (EXOC3L2), mRNA.	140										endometrium(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00883)		CGGGCCAGGCGCTCGGCCAGA	0.637													A	45728158	G	A	45728158	3	1	7	1	0	0	0	0	1	0	0	0	5346	1087	38	1	831	1	EXOC3L2	19	45728158	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	1505183	45728158	13400825	65	479											
LILRB2	10288	broad.mit.edu	37	chr19	54783691	54783691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagctcagaccaccgagCgcggctgtaatactgacagc	11	6	11	13	3	1	3	1	2	0	1	1	4	1	3	2	1	4	3	2	1	2	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:54783691C>T	uc002qfb.3	-	3	576	c.310G>A	c.(310-312)Gct>Act	p.A104T	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.A104T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.A104T|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	104	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.A104S(2)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACCACCGAGCGCGGCTGTAA	0.592													T	54783691	C	T	54783691	3	4	7	1	0	0	0	0	1	0	0	0	8851	768	27	1	1530	1	LILRB2	19	54783691	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	9055533	54783691	4345292	66	480											
KIR2DL1	3804	broad.mit.edu	37	chr19	55255258	55255260	+	In_Frame_Del	DEL	CTT	CTT	-																															tccaggtctatatgagaaacCttctctctcagcccagccgg																										TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr19:55255258_55255260delCTT	uc002qgx.3	+	3	423_425	c.386_388delCTT	c.(385-390)ccttct>cct	p.S130del	KIR2DL1_uc010erw.1_In_Frame_Del_p.S130del|KIR2DL1_uc002qgz.1_In_Frame_Del_p.S40del|KIR2DL1_uc002qha.1_Intron	NM_015868	NP_056952	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3 (KIR2DL3), mRNA.	130					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TATGAGAAACCTTCTCTCTCAGC	0.562													-	55255260	CTT	-	55255258	7	5	7	1	0	1	0	1	0	0	0	0	8374	681	24	0		0	KIR2DL1	19	55255258	In_Frame_Del	DEL	CTT	TCGA-02-2485-01A-01D-1494-08	471567	55255258	3873725	67	481											
SLCO4A1	28231	broad.mit.edu	37	chr20	61299253	61299253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacggagacgaatgtggaCggccagaaggtgagtggagc	11	4	18	8	3	0	3	0	1	0	2	0	7	0	5	2	5	1	0	2	5	2	0	rs138089582	byFrequency	TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr20:61299253C>T	uc002ydb.1	+	7	1834	c.1629C>T	c.(1627-1629)gaC>gaT	p.D543D	LOC100127888_uc002ydd.3_5'Flank|SLCO4A1_uc002yde.1_Missense_Mutation_p.T3M	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	543	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			CGAATGTGGACGGCCAGAAGG	0.647													T	61299253	C	T	61299253	2	4	7	1	0	0	0	0	0	0	0	1	14823	535	19	1		1	SLCO4A1	20	61299253	Silent	SNP	C	TCGA-02-2485-01A-01D-1494-08		61299253	1726267	68	482											
KIAA1644	85352	broad.mit.edu	37	chr22	44692617	44692617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgcctggaactccgtctcGttgcagcagtatttgaagac	9	10	10	12	3	1	2	0	1	1	1	3	3	2	3	3	1	3	4	3	1	3	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chr22:44692617G>A	uc003bet.2	-	2	349	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_001099294	NP_001092764	Q3SXP7	K1644_HUMAN	Homo sapiens KIAA1644 (KIAA1644), mRNA.	72						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9		all_neural(38;0.0762)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTCCGTCTCGTTGCAGCAGT	0.582													A	44692617	G	A	44692617	2	1	7	1	0	0	0	0	0	0	0	1	8308	1136	40	1		1	KIAA1644	22	44692617	Silent	SNP	G	TCGA-02-2485-01A-01D-1494-08		44692617	6611949	69	483											
PRPS2	5634	broad.mit.edu	37	chrX	12828240	12828240	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgtatcattgttTcacctgacgcagggggagcc	10	9	13	9	1	2	2	2	1	0	1	2	4	2	4	2	3	2	3	2	3	3	3			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:12828240T>A	uc004cva.3	+	3	657	c.514T>A	c.(514-516)Tca>Aca	p.S172T	PRPS2_uc004cvb.3_Missense_Mutation_p.S169T|PRPS2_uc010nec.3_Missense_Mutation_p.S105T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	169					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TATCATTGTTTCACCTGACGC	0.463													A	12828240	T	A	12828240	3	1	7	1	0	0	0	0	1	0	0	0	12666	1783	62	5	528	5	PRPS2	23	12828240	Missense_Mutation	SNP	T	TCGA-02-2485-01A-01D-1494-08		12828240	142442320	70	484											
MSN	4478	broad.mit.edu	37	chrX	64949532	64949532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacttcaataaggaagtgcAtaagtctggctacctggccg	11	9	11	10	2	2	0	1	0	1	0	2	2	2	1	2	3	2	2	2	3	5	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:64949532A>G	uc004dwf.3	+	3	623	c.425A>G	c.(424-426)cAt>cGt	p.H142R		NM_002444	NP_002435	P26038	MOES_HUMAN	Homo sapiens moesin (MSN), mRNA.	142	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						AAGGAAGTGCATAAGTCTGGC	0.562			T	ALK	ALCL								G	64949532	A	G	64949532	3	3	7	1	0	0	0	0	1	0	0	0	9961	217	8	3	439	3	MSN	23	64949532	Missense_Mutation	SNP	A	TCGA-02-2485-01A-01D-1494-08	52121292	64949532	90321028	71	485											
HEPH	9843	broad.mit.edu	37	chrX	65486458	65486458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacagagaaagctacgaCgcaataggaggtccatcctg	14	6	11	10	3	0	1	0	0	0	1	3	5	2	2	2	2	2	2	2	2	4	2			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:65486458C>T	uc011moz.2	+	20	3720	c.3583C>T	c.(3583-3585)Cgc>Tgc	p.R1195C	HEPH_uc004dwn.3_Missense_Mutation_p.R1143C|HEPH_uc004dwo.3_Missense_Mutation_p.R874C|HEPH_uc010nkr.3_Missense_Mutation_p.R952C|HEPH_uc011mpa.2_Missense_Mutation_p.R1144C	NM_138737	NP_055614	Q9BQS7	HEPH_HUMAN	Homo sapiens hephaestin (HEPH), transcript variant 1, mRNA.	1141					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAAGCTACGACGCAATAGGAG	0.498													T	65486458	C	T	65486458	3	4	7	1	0	0	0	0	1	0	0	0	7109	536	19	1	3665	1	HEPH	23	65486458	Missense_Mutation	SNP	C	TCGA-02-2485-01A-01D-1494-08	536926	65486458	89784102	72	486											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299891	125299891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccgtttcctgctacctGtttgctgctgggccatggtg	2	16	11	12	1	0	0	0	0	0	0	2	0	2	0	4	2	4	5	4	2	1	4			TCGA-02-2485-01A-01D-1494-08	TCGA-02-2485-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0332b017-17d5-4083-8fc4-9d6f8fdbbbde	8faa4b6d-6c64-4c03-bb3d-e2d33db491b0	g.chrX:125299891G>T	uc004euk.2	-	0	190	c.17C>A	c.(16-18)aCa>aAa	p.T6K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	6										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTGCTACCTGTTTGCTGCTG	0.776													T	125299891	G	T	125299891	3	4	7	1	0	0	0	0	1	0	0	0	4299	1377	48	4	1378	4	DCAF12L2	23	125299891	Missense_Mutation	SNP	G	TCGA-02-2485-01A-01D-1494-08	59813433	125299891	29970669	73	487											
LOC649330	649330	broad.mit.edu	37	chr1	12907709	12907709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgatagacgttgaCgtttcgagggcactacagcc	8	12	11	10	3	0	3	0	2	0	1	2	4	1	3	2	1	2	4	2	1	2	5	rs4026148		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907709C>T	uc010obf.2	-	1	660	c.434G>A	c.(433-435)cGt>cAt	p.R145H	LOC649330_uc009vno.2_Missense_Mutation_p.R145H	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	145							nucleic acid binding|nucleotide binding	p.R145H(1)									TAGACGTTGACGTTTCGAGGG	0.483													T	12907709	C	T	12907709	3	4	8	1	0	0	0	0	1	0	0	0	8953	536	19	1	451	1	LOC649330	1	12907709	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		12907709	236342912	1	488											
LOC649330	649330	broad.mit.edu	37	chr1	12907886	12907886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggttcacttttggctctGcagccaggttaatatctaca	8	14	8	11	1	3	0	1	0	2	0	4	0	3	0	1	3	3	4	1	3	3	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:12907886G>A	uc010obf.2	-	1	483	c.257C>T	c.(256-258)gCa>gTa	p.A86V	LOC649330_uc009vno.2_Missense_Mutation_p.A86V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	86							nucleic acid binding|nucleotide binding										TTTTGGCTCTGCAGCCAGGTT	0.488													A	12907886	G	A	12907886	3	1	8	1	0	0	0	0	1	0	0	0	8953	1319	46	2	628	2	LOC649330	1	12907886	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	177	12907886	236342735	2	489											
HSPG2	3339	broad.mit.edu	37	chr1	22216489	22216489	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgtgcccaggcgtcGgaactggaatccctggggag	7	7	14	13	2	1	0	1	0	0	0	3	3	2	3	3	5	2	0	3	5	2	0			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:22216489G>A	uc009vqd.3	-	5	599	c.559C>T	c.(559-561)Cga>Tga	p.R187*	HSPG2_uc001bfj.3_Nonsense_Mutation_p.R187*|HSPG2_uc009vqe.1_Silent_p.S85S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	187	SEA.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCAGGCGTCGGAACTGGAAT	0.612													A	22216489	G	A	22216489	4	1	8	1	0	0	0	0	0	1	0	0	7488	1124	39	1	12984	1	HSPG2	1	22216489	Nonsense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	9308603	22216489	227034132	3	490											
SLC2A1	6513	broad.mit.edu	37	chr1	43396355	43396355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtgcccagggccccaCgaagggctgtgggtgacact	7	5	17	12	1	0	1	0	1	0	0	0	2	0	1	3	4	1	2	3	4	1	0			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:43396355C>T	uc001cik.2	-	3	983	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	153			R -> C (in GLUT1DS1; 44% of wild-type glucose uptake activity).|R -> H (in GLUT1DS2).		carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CAGGGCCCCACGAAGGGCTGT	0.647													T	43396355	C	T	43396355	3	4	8	1	0	0	0	0	1	0	0	0	14632	536	19	1	1048	1	SLC2A1	1	43396355	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	21179866	43396355	205854266	4	491											
CDKN2C	1031	broad.mit.edu	37	chr1	51439609	51439610	+	Frame_Shift_Ins	INS	-	-	A																															ttgccaggagactgctacttINSagaggtgctaatcccgattt																										TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:51439609_51439610insA	uc001csf.3	+	2	2149_2150	c.174_175insA	c.(172-177)cttagafs	p.L58fs	CDKN2C_uc001csg.3_Frame_Shift_Ins_p.L58fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	58					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		GACTGCTACTTAGAGGTGCTAA	0.441			D		"glioma, MM"								A	51439610	-	A	51439609	7	5	8	1	0	1	1	0	0	0	0	0	3195	1741	61	0	180	0	CDKN2C	1	51439609	Frame_Shift_Ins	INS	-	TCGA-02-2486-01A-01D-1494-08	8043254	51439609	197811012	5	492											
GBA	2630	broad.mit.edu	37	chr1	155184421	155184421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgccactgcgtccgggtcGttcttctgactggcaaccag	6	10	12	13	3	2	1	0	1	2	0	4	1	3	1	3	2	3	2	3	2	1	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:155184421G>A	uc001fjd.3	-	9	1173	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	GBA_uc001fjf.4_Silent_p.N304N|GBA_uc001fje.4_Silent_p.N265N			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	481			Y -> C (in GD; type 2; 16% of normal activity; increases susceptibility to proteolytic degradation).		carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	CGTCCGGGTCGTTCTTCTGAC	0.582									Gaucher disease type I				A	155184421	G	A	155184421	2	1	8	1	0	0	0	0	0	0	0	1	6320	1160	40	1		1	GBA	1	155184421	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	103744812	155184421	94066200	6	493											
GPR52	9293	broad.mit.edu	37	chr1	174417940	174417940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacattttcaaaatttgcCgtcagcacaccaaagagata	15	10	5	11	1	2	1	2	0	0	1	3	2	3	1	3	0	2	1	3	0	4	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:174417940C>T	uc010pmu.1	-	0		c.395G>A			RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron|GPR52_uc001gka.1_Missense_Mutation_p.R231C			Q9Y2T5	GPR52_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022628 3' read GPR52 mRNA.							integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						CAAAATTTGCCGTCAGCACAC	0.463													T	174417940	C	T	174417940	3	4	8	1	0	0	0	0	1	0	0	0	6752	652	23	1	693	1	GPR52	1	174417940	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	19233519	174417940	74832681	7	494											
KIF21B	23046	broad.mit.edu	37	chr1	200974537	200974537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtgctggctgtggtgcGggacagggccccctgcttca	3	9	17	12	1	1	0	1	0	0	0	1	1	1	1	2	5	3	3	2	5	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:200974537G>A	uc001gvs.2	-	4	948	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	KIF21B_uc009wzl.2_Missense_Mutation_p.R211C|KIF21B_uc001gvr.2_Missense_Mutation_p.R211C|KIF21B_uc010ppn.2_Missense_Mutation_p.R211C|KIF21B_uc001gvt.1_5'UTR	NM_001252100	NP_001239029	O75037	KI21B_HUMAN	Homo sapiens kinesin family member 21B (KIF21B), transcript variant 1, mRNA.	211	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						GCTGTGGTGCGGGACAGGGCC	0.627													A	200974537	G	A	200974537	3	1	8	1	0	0	0	0	1	0	0	0	8347	1116	39	1	4363	1	KIF21B	1	200974537	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	26556597	200974537	48276084	8	495											
OR2T4	127074	broad.mit.edu	37	chr1	248525343	248525343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaccatggcctatgaccGctacgtggccatctgccatc	8	8	9	16	2	1	1	0	1	1	0	2	1	1	1	6	2	3	1	6	2	2	2	rs141022739		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr1:248525343G>A	uc001ieh.1	+	0	461	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCTATGACCGCTACGTGGCC	0.522													A	248525343	G	A	248525343	3	1	8	1	0	0	0	0	1	0	0	0	11103	1087	38	1	463	1	OR2T4	1	248525343	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	47550806	248525343	725278	9	496											
CAD	790	broad.mit.edu	37	chr2	27446562	27446562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggctcctctcttcaccaAcgccaatgatggttccaatg	8	11	8	14	1	2	1	1	1	1	0	5	1	4	1	4	2	1	2	4	2	3	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:27446562A>G	uc002rji.3	+	6	1103	c.941A>G	c.(940-942)aAc>aGc	p.N314S	CAD_uc010eyw.3_Missense_Mutation_p.N314S	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	314	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTCTTCACCAACGCCAATGAT	0.537													G	27446562	A	G	27446562	3	3	8	1	0	0	0	0	1	0	0	0	2591	43	2	3	967	3	CAD	2	27446562	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08		27446562	215752811	10	497											
RHOQ	23433	broad.mit.edu	37	chr2	46803312	46803312	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatccagcctcattTcaaaatgtgaaagaggagtg	14	10	11	6	0	2	2	2	1	0	1	3	3	3	3	2	2	1	1	2	2	5	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:46803312T>A	uc002rva.3	+	2	607	c.288T>A	c.(286-288)ttT>ttA	p.F96L	BC048424_uc002rvb.3_Intron	NM_012249	NP_036381	P17081	RHOQ_HUMAN	Homo sapiens ras homolog gene family, member Q (RHOQ), mRNA.	96					cortical actin cytoskeleton organization|insulin receptor signaling pathway|negative regulation of establishment of protein localization in plasma membrane|positive regulation of filopodium assembly|positive regulation of glucose import|positive regulation of transcription from RNA polymerase II promoter|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	actin filament|cytosol|plasma membrane	GBD domain binding|GTP binding|GTPase activity|profilin binding			skin(2)	2		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGCCTCATTTCAAAATGTGA	0.418													A	46803312	T	A	46803312	3	1	8	1	0	0	0	0	1	0	0	0	13431	1780	62	5	298	5	RHOQ	2	46803312	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	19356750	46803312	196396061	11	498											
LRP2	4036	broad.mit.edu	37	chr2	170060768	170060768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcccgtcagagtgctgcGttcaatcctctgcctaaaat	9	10	8	14	3	3	1	2	0	1	1	4	1	4	1	3	0	3	2	3	0	3	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr2:170060768G>A	uc002ues.3	-	41	7942	c.7729C>T	c.(7729-7731)Cgc>Tgc	p.R2577C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2577					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGAGTGCTGCGTTCAATCCTC	0.433													A	170060768	G	A	170060768	3	1	8	1	0	0	0	0	1	0	0	0	9026	1145	40	1	6390	1	LRP2	2	170060768	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	123257456	170060768	73138605	12	499											
SCN10A	6336	broad.mit.edu	37	chr3	38739171	38739171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgtcttcttgcttccatCggagagtggttgctattggt	7	16	11	7	1	2	1	0	0	2	1	4	2	3	1	1	3	2	3	1	3	2	6	rs148537653		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:38739171C>T	uc003ciq.3	-	26	5540	c.5540G>A	c.(5539-5541)cGa>cAa	p.R1847Q		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1847					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TTGCTTCCATCGGAGAGTGGT	0.473													T	38739171	C	T	38739171	3	4	8	1	0	0	0	0	1	0	0	0	14005	884	31	1	334	1	SCN10A	3	38739171	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		38739171	159283259	13	500											
CCBP2	1238	broad.mit.edu	37	chr3	42906816	42906816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccttgtttctgcatacGctgttggacctgcaagtatt	7	15	8	11	1	2	0	1	0	1	0	2	1	2	1	2	1	3	6	2	1	3	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:42906816G>A	uc003cme.3	+	2	1000	c.822G>A	c.(820-822)acG>acA	p.T274T	CCBP2_uc003cmf.3_Silent_p.T274T|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_Silent_p.T274T	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.	274					chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity	p.T274M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		TTCTGCATACGCTGTTGGACC	0.537													A	42906816	G	A	42906816	2	1	8	1	0	0	0	0	0	0	0	1	2760	1074	38	1		1	CCBP2	3	42906816	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	4167645	42906816	155115614	14	501											
PLXNB1	5364	broad.mit.edu	37	chr3	48463528	48463528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacctgccaaggagcacGcaccacccacagtatgggtc	10	6	10	15	1	1	1	0	1	1	0	2	2	1	2	4	2	2	3	4	2	2	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:48463528G>A	uc003csw.2	-	5	1776	c.1506C>T	c.(1504-1506)tgC>tgT	p.C502C	PLXNB1_uc003csu.2_Silent_p.C502C|PLXNB1_uc003csx.2_Silent_p.C502C|PLXNB1_uc010hjx.1_Non-coding_Transcript	NM_002673	NP_002664	O43157	PLXB1_HUMAN	Homo sapiens plexin B1 (PLXNB1), transcript variant 1, mRNA.	502					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAAGGAGCACGCACCACCCAC	0.557													A	48463528	G	A	48463528	2	1	8	1	0	0	0	0	0	0	0	1	12200	1079	38	1		1	PLXNB1	3	48463528	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	5556712	48463528	149558902	15	502											
SOX14	8403	broad.mit.edu	37	chr3	137484152	137484152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggctaccagaacggcGccttcggcagcctcagctgc	6	6	12	17	3	1	1	1	0	0	1	2	1	1	1	4	3	5	3	4	3	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:137484152G>A	uc003erm.2	+	0	1019	c.526G>A	c.(526-528)Gcc>Acc	p.A176T		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	176					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						CCAGAACGGCGCCTTCGGCAG	0.667													A	137484152	G	A	137484152	3	1	8	1	0	0	0	0	1	0	0	0	15039	1087	38	1	528	1	SOX14	3	137484152	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	89020624	137484152	60538278	16	503											
ATR	545	broad.mit.edu	37	chr3	142183989	142183989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaatcctttctcaggtCatcttttggcttacacatca	9	16	4	12	0	5	0	3	0	3	0	7	0	6	0	1	2	2	1	1	2	3	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr3:142183989C>A	uc003eux.4	-	40	7113	c.6991G>T	c.(6991-6993)Gac>Tac	p.D2331Y	ATR_uc003euy.1_Missense_Mutation_p.D217Y	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2331	PI3K/PI4K.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TTTCTCAGGTCATCTTTTGGC	0.299								Other conserved DNA damage response genes					A	142183989	C	A	142183989	3	1	8	1	0	0	0	0	1	0	0	0	1209	826	29	4	971	4	ATR	3	142183989	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	4699837	142183989	55838441	17	504											
NSUN7	79730	broad.mit.edu	37	chr4	40800851	40800851	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgttcagtttttccaGaagaaaatgaagctgttgtt	12	14	9	6	0	1	3	1	1	0	2	2	3	2	3	1	0	1	6	1	0	4	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:40800851G>T	uc003gvj.4	+	9	1825	c.1330G>T	c.(1330-1332)Gaa>Taa	p.E444*	NSUN7_uc003gvi.4_Nonsense_Mutation_p.E444*	NM_024677	NP_078953			Homo sapiens NOP2/Sun domain family, member 7 (NSUN7), mRNA.											NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						AGTTTTTCCAGAAGAAAATGA	0.343													T	40800851	G	T	40800851	4	4	8	1	0	0	0	0	0	1	0	0	10759	943	33	4	1364	4	NSUN7	4	40800851	Nonsense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		40800851	150353425	18	505											
NPY5R	4889	broad.mit.edu	37	chr4	164271493	164271493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaataatactgctgccactcGgaattctgatttcccagtct	10	13	7	11	1	2	1	0	1	2	0	4	3	3	2	2	1	3	1	2	1	4	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:164271493G>A	uc003iqn.3	+	3	250	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	NPY5R_uc021xtw.1_Missense_Mutation_p.R23Q	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	23					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane		p.R23L(2)		NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GCTGCCACTCGGAATTCTGAT	0.378													A	164271493	G	A	164271493	3	1	8	1	0	0	0	0	1	0	0	0	10686	1116	39	1	70	1	NPY5R	4	164271493	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	123470642	164271493	26882783	19	506											
ADAM29	11086	broad.mit.edu	37	chr4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgttgaaattgtagtcGtcattgataattatctgtac	11	17	9	4	1	2	2	1	2	1	0	3	3	2	3	0	1	1	3	0	1	5	8			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr4:175897289G>A	uc003iuc.3	+	4	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(4)|p.V204V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348													A	175897289	G	A	175897289	3	1	8	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	11625796	175897289	15256987	20	507											
IL31RA	133396	broad.mit.edu	37	chr5	55206410	55206410	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggcctggagtccctgaaaCgaaagacctcttacattgtt	11	10	9	11	2	1	2	0	1	1	1	2	4	2	3	3	2	2	1	3	2	3	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:55206410C>T	uc003jql.3	+	11	1744	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	IL31RA_uc003jqm.3_Nonsense_Mutation_p.R499*|IL31RA_uc003jqn.3_Nonsense_Mutation_p.R518*|IL31RA_uc010iwa.1_Nonsense_Mutation_p.R481*|IL31RA_uc021xyq.1_Nonsense_Mutation_p.R499*|IL31RA_uc003jqo.3_Nonsense_Mutation_p.R376*	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	486					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				GTCCCTGAAACGAAAGACCTC	0.458													T	55206410	C	T	55206410	4	4	8	1	0	0	0	0	0	1	0	0	7749	528	19	1	1598	1	IL31RA	5	55206410	Nonsense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		55206410	125708850	21	508											
GABRB2	2561	broad.mit.edu	37	chr5	160721153	160721153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccactgggaagaatatgcGggaccaccgatctatggcat	13	7	11	10	2	1	1	0	0	1	1	1	4	1	3	3	3	2	1	3	3	5	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:160721153G>A	uc003lys.1	-	10	1692	c.1474C>T	c.(1474-1476)Cgc>Tgc	p.R492C	GABRB2_uc011deh.1_Missense_Mutation_p.R293C|GABRB2_uc003lyr.1_Missense_Mutation_p.R454C|GABRB2_uc003lyt.1_Missense_Mutation_p.R454C	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	492					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAGAATATGCGGGACCACCGA	0.468													A	160721153	G	A	160721153	3	1	8	1	0	0	0	0	1	0	0	0	6219	1116	39	1	68	1	GABRB2	5	160721153	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	105514743	160721153	20194107	22	509											
GABRA6	2559	broad.mit.edu	37	chr5	161113291	161113291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttctactcagaaaacGtcagtcggatcctggacaac	13	8	8	12	2	3	1	2	0	1	1	5	3	4	3	1	2	4	1	1	2	5	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:161113291G>T	uc003lyu.2	+	1	432	c.94G>T	c.(94-96)Gtc>Ttc	p.V32F		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)			T	161113291	G	T	161113291	3	4	8	1	0	0	0	0	1	0	0	0	6217	1145	40	4	100	4	GABRA6	5	161113291	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	392138	161113291	19801969	23	510											
GABRP	2568	broad.mit.edu	37	chr5	170222299	170222299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcactctggatgccCgcctcgtggagttcctctgg	5	11	12	13	2	3	1	1	0	2	1	5	3	4	3	3	3	2	2	3	3	0	2	rs145233692		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:170222299C>T	uc003mau.3	+	4	526	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	GABRP_uc011dev.2_Missense_Mutation_p.R110C	NM_014211	NP_055026	O00591	GBRP_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, pi (GABRP), mRNA.	110						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R110S(2)|p.R110H(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCTGGATGCCCGCCTCGTGGA	0.562													T	170222299	C	T	170222299	3	4	8	1	0	0	0	0	1	0	0	0	6226	652	23	1	342	1	GABRP	5	170222299	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	9109008	170222299	10692961	24	511											
HRH2	3274	broad.mit.edu	37	chr5	175110333	175110333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtcctcatcctcatcaccGttgctggcaatgtggtcgtc	5	12	10	14	3	3	0	3	0	0	0	7	0	5	0	3	3	1	3	3	3	1	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr5:175110333G>A	uc003mdc.4	+	1	741	c.97G>A	c.(97-99)Gtt>Att	p.V33I	HRH2_uc003mdd.2_Missense_Mutation_p.V33I	NM_001131055	NP_001124527	P25021	HRH2_HUMAN	Homo sapiens histamine receptor H2 (HRH2), transcript variant 1, mRNA.	33					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	CCTCATCACCGTTGCTGGCAA	0.572													A	175110333	G	A	175110333	3	1	8	1	0	0	0	0	1	0	0	0	7411	1145	40	1	99	1	HRH2	5	175110333	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	4888034	175110333	5804927	25	512											
C6orf15	29113	broad.mit.edu	37	chr6	31079167	31079167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatcgtgctctagccccaCtgcaacctagggcttggagg	7	10	11	13	1	2	0	0	0	2	0	3	1	2	1	3	3	4	3	3	3	4	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:31079167C>A	uc003nsk.1	-	1	969	c.969G>T	c.(967-969)caG>caT	p.Q323H		NM_014070	NP_054789	Q6UXA7	CF015_HUMAN	Homo sapiens chromosome 6 open reading frame 15 (C6orf15), mRNA.	323										endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						TCTAGCCCCACTGCAACCTAG	0.562													A	31079167	C	A	31079167	3	1	8	1	0	0	0	0	1	0	0	0	2358	564	20	4	12	4	C6orf15	6	31079167	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		31079167	140035900	26	513											
KCNQ5	56479	broad.mit.edu	37	chr6	73787150	73787150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtttcctacagatcctccGcatggtgcgcatggaccgaa	8	9	10	14	4	0	1	0	0	0	1	3	3	3	2	5	2	2	3	5	2	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:73787150G>A	uc011dyh.2	+	3	1069	c.722G>A	c.(721-723)cGc>cAc	p.R241H	KCNQ5_uc003pgj.4_Missense_Mutation_p.R241H|KCNQ5_uc011dyi.2_Missense_Mutation_p.R241H|KCNQ5_uc010kat.3_Missense_Mutation_p.R241H|KCNQ5_uc003pgk.3_Missense_Mutation_p.R241H|KCNQ5_uc011dyj.2_Missense_Mutation_p.R241H|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	241					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.R241H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGATCCTCCGCATGGTGCGC	0.443													A	73787150	G	A	73787150	3	1	8	1	0	0	0	0	1	0	0	0	8144	1087	38	1	736	1	KCNQ5	6	73787150	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	42707983	73787150	97327917	27	514											
PRDM13	59336	broad.mit.edu	37	chr6	100062050	100062050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaagccccgccgagctgggGtcgctggccagcatcgaccg	6	5	14	16	5	0	0	0	0	0	0	2	2	0	0	5	3	3	3	5	3	1	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:100062050G>A	uc003pqg.1	+	3	1800	c.1539G>A	c.(1537-1539)ggG>ggA	p.G513G		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CCGAGCTGGGGTCGCTGGCCA	0.662													A	100062050	G	A	100062050	2	1	8	1	0	0	0	0	0	0	0	1	12540	1248	44	2		2	PRDM13	6	100062050	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	26274900	100062050	71053017	28	515											
BEND3	57673	broad.mit.edu	37	chr6	107391831	107391831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtagatgttggggtcGttgtcagtgcctgccccggt	6	11	16	8	2	1	1	1	0	0	1	2	2	1	2	3	4	2	3	3	4	2	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:107391831G>A	uc003prs.2	-	4	1214	c.564C>T	c.(562-564)aaC>aaT	p.N188N		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	188										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGTTGGGGTCGTTGTCAGTGC	0.577													A	107391831	G	A	107391831	2	1	8	1	0	0	0	0	0	0	0	1	1404	1136	40	1		1	BEND3	6	107391831	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	7329781	107391831	63723236	29	516											
SGK1	6446	broad.mit.edu	37	chr6	134492161	134492161	+	Frame_Shift_Del	DEL	G	G	-																															gacaggaaaacatcactcacGaagtcatccttggccccgag																										TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:134492161delG	uc003qen.4	-	10	1127	c.1038_splice	c.e10+1	p.F346_splice	SGK1_uc003qeo.4_Splice_Site_p.F441_splice|SGK1_uc011ect.2_Splice_Site_p.F336_splice|SGK1_uc011ecu.2_Splice_Site_p.F302_splice|SGK1_uc011ecv.2_Splice_Site_p.F360_splice|SGK1_uc011ecw.2_Splice_Site_p.F374_splice	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	346	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity	p.F346F(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		CATCACTCACGAAGTCATCCT	0.527													-	134492161	G	-	134492161	7	5	8	1	0	1	0	1	0	0	0	0	14300	1072	37	0	269	0	SGK1	6	134492161	Frame_Shift_Del	DEL	G	TCGA-02-2486-01A-01D-1494-08	27100330	134492161	36622906	30	517											
KIAA1244	57221	broad.mit.edu	37	chr6	138612912	138612912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagcacaaccacttcagCgatggtgcctcgcagccccc	8	6	10	17	2	1	0	1	0	0	0	2	2	1	1	4	2	5	2	4	2	1	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr6:138612912C>T	uc003qhu.3	+	18	3261	c.3090C>T	c.(3088-3090)agC>agT	p.S1030S		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1030					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCACTTCAGCGATGGTGCCT	0.647													T	138612912	C	T	138612912	2	4	8	1	0	0	0	0	0	0	0	1	8275	767	27	1		1	KIAA1244	6	138612912	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	4120751	138612912	32502155	31	518											
DNAH11	8701	broad.mit.edu	37	chr7	21583201	21583201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccgcctcggggcgccttgCggcttcccaggaggtaagag	5	6	16	14	5	0	1	0	0	0	1	2	2	1	2	4	5	1	2	4	5	1	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:21583201C>T	uc003svc.3	+	0	369	c.338C>T	c.(337-339)gCg>gTg	p.A113V		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	113	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGGCGCCTTGCGGCTTCCCAG	0.617									Kartagener syndrome				T	21583201	C	T	21583201	3	4	8	1	0	0	0	0	1	0	0	0	4638	768	27	1	340	1	DNAH11	7	21583201	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		21583201	137555462	32	519											
STK31	56164	broad.mit.edu	37	chr7	23802525	23802525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagtcatctcttaataaaCgcttaaaaacattgcaggtt	15	13	6	7	1	2	1	1	1	1	0	3	1	2	1	0	1	3	3	0	1	6	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:23802525C>T	uc003sws.4	+	10	1466	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	STK31_uc003swt.4_Missense_Mutation_p.R444C|STK31_uc011jze.2_Missense_Mutation_p.R467C|STK31_uc010kuq.3_Missense_Mutation_p.R444C	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	467							ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.R467C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTTAATAAACGCTTAAAAAC	0.289													T	23802525	C	T	23802525	3	4	8	1	0	0	0	0	1	0	0	0	15392	536	19	1	1441	1	STK31	7	23802525	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	2219324	23802525	135336138	33	520											
HECW1	23072	broad.mit.edu	37	chr7	43360248	43360248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatagatgaggtcttgtccGaaaactttctggactataaa	14	13	8	6	1	2	2	0	1	2	1	3	4	3	3	1	2	1	0	1	2	7	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:43360248G>A	uc003tid.1	+	4	972	c.367G>A	c.(367-369)Gaa>Aaa	p.E123K	HECW1_uc011kbi.1_Missense_Mutation_p.E123K|HECW1_uc003tie.1_Missense_Mutation_p.E155K	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	123					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GGTCTTGTCCGAAAACTTTCT	0.428													A	43360248	G	A	43360248	3	1	8	1	0	0	0	0	1	0	0	0	7097	1059	37	1	377	1	HECW1	7	43360248	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	19557723	43360248	115778415	34	521											
SRCRB4D	136853	broad.mit.edu	37	chr7	76019569	76019569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccacagcccagctggCggcacaggacaccggctgcc	7	3	13	18	2	0	0	0	0	0	0	0	1	0	1	5	5	3	3	5	5	0	0			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:76019569C>T	uc003ufb.3	-	10	1883	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	SRCRB4D_uc003ufa.3_Missense_Mutation_p.A14T	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	512	SRCR 4.					extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCCCAGCTGGCGGCACAGGAC	0.667													T	76019569	C	T	76019569	3	4	8	1	0	0	0	0	1	0	0	0	15233	768	27	1	196	1	SRCRB4D	7	76019569	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	32659321	76019569	83119094	35	522											
KIAA1324L	222223	broad.mit.edu	37	chr7	86521158	86521158	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgggagttcacacTcttttgagttagtcgtcatt	7	14	10	10	2	3	1	2	1	1	0	4	2	3	2	1	1	2	3	1	1	1	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:86521158T>A	uc011kha.2	-	20	3097	c.2912A>T	c.(2911-2913)gAg>gTg	p.E971V	KIAA1324L_uc003uie.3_Missense_Mutation_p.E804V|KIAA1324L_uc011kgz.2_Missense_Mutation_p.E857V|KIAA1324L_uc003uif.2_Missense_Mutation_p.E723V	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	971						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GAGTTCACACTCTTTTGAGTT	0.323													A	86521158	T	A	86521158	3	1	8	1	0	0	0	0	1	0	0	0	8282	1551	54	5	185	5	KIAA1324L	7	86521158	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	10501589	86521158	72617505	36	523											
MCM7	4176	broad.mit.edu	37	chr7	99693629	99693629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcgtggatggctgtgcGgtcggcctcagccatcttgt	4	11	14	12	3	2	0	1	0	1	0	4	2	2	1	3	4	2	1	3	4	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:99693629G>A	uc003usw.1	-	10	1873	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	MCM7_uc003usv.1_Missense_Mutation_p.R279C|MCM7_uc003usx.1_Missense_Mutation_p.R279C|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	455	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	ATGGCTGTGCGGTCGGCCTCA	0.612													A	99693629	G	A	99693629	3	1	8	1	0	0	0	0	1	0	0	0	9467	1116	39	1	816	1	MCM7	7	99693629	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	13172471	99693629	59445034	37	524											
CPA2	1358	broad.mit.edu	37	chr7	129909521	129909521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagcttgatttttggAaatcacccaccaccccaggg	9	11	7	14	0	2	1	2	1	0	0	2	2	2	2	5	2	1	1	5	2	1	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:129909521A>G	uc003vpq.3	+	2	185	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	CPA2_uc011kpc.1_Missense_Mutation_p.K56E	NM_001869	NP_001860	P48052	CBPA2_HUMAN	Homo sapiens carboxypeptidase A2 (pancreatic) (CPA2), mRNA.	56					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TGATTTTTGGAAATCACCCAC	0.493													G	129909521	A	G	129909521	3	3	8	1	0	0	0	0	1	0	0	0	3821	247	9	3	176	3	CPA2	7	129909521	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08	30215892	129909521	29229142	38	525											
NOS3	4846	broad.mit.edu	37	chr7	150699008	150699008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggccgggcccagagctaCgcacagcagctggggagact	9	3	15	14	3	0	2	0	0	0	2	0	3	0	2	3	4	4	4	3	4	1	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr7:150699008C>T	uc003wif.3	+	12	1898	c.1602C>T	c.(1600-1602)taC>taT	p.Y534Y	NOS3_uc011kuy.2_Silent_p.Y328Y|NOS3_uc011kva.2_Silent_p.Y534Y|NOS3_uc011kuz.2_Silent_p.Y534Y|NOS3_uc011kvb.2_Silent_p.Y534Y	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	534	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCCAGAGCTACGCACAGCAGC	0.637													T	150699008	C	T	150699008	2	4	8	1	0	0	0	0	0	0	0	1	10620	547	19	1		1	NOS3	7	150699008	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	20789487	150699008	8439655	39	526											
GFRA2	2675	broad.mit.edu	37	chr8	21608207	21608207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgccggcggcgctcagcGcacgcctggtcttggcagga	4	8	16	13	5	2	0	1	0	1	0	2	1	2	1	2	5	2	4	2	5	0	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:21608207G>A	uc003wzu.1	-	3	1362	c.687C>T	c.(685-687)tgC>tgT	p.C229C	GFRA2_uc003wzv.1_Silent_p.C124C|GFRA2_uc003wzw.1_Silent_p.C96C|DOK2_uc003wzx.1_Intron	NM_001495	NP_001486	O00451	GFRA2_HUMAN	Homo sapiens GDNF family receptor alpha 2 (GFRA2), transcript variant 1, mRNA.	229						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCGCTCAGCGCACGCCTGGT	0.657													A	21608207	G	A	21608207	2	1	8	1	0	0	0	0	0	0	0	1	6404	1079	38	1		1	GFRA2	8	21608207	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08		21608207	124755815	40	527											
FAM150A	389658	broad.mit.edu	37	chr8	53452429	53452429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggtattgtaatagagtCggtggaaatgtttgctgcat	9	14	12	6	1	0	1	0	0	0	1	1	2	0	2	1	3	2	5	1	3	4	5	rs145116532		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:53452429C>T	uc003xrd.3	-	2	492	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	FAM150A_uc011ldt.2_Missense_Mutation_p.R96Q	NM_207413	NP_997296	Q6UXT8	F150A_HUMAN	Homo sapiens family with sequence similarity 150, member A (FAM150A), mRNA.	96						extracellular region				lung(1)	1		Lung NSC(129;0.0919)|all_epithelial(80;0.125)|all_lung(136;0.17)				GTAATAGAGTCGGTGGAAATG	0.363													T	53452429	C	T	53452429	3	4	8	1	0	0	0	0	1	0	0	0	5501	884	31	1	110	1	FAM150A	8	53452429	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	31844222	53452429	92911593	41	528											
CSMD3	114788	broad.mit.edu	37	chr8	114326801	114326801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattcaaaacacactaaccTtgtcctaaagtttgtaggat	14	12	5	10	0	1	0	1	0	0	0	2	1	2	1	3	1	2	2	3	1	6	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr8:114326801T>A	uc003ynu.3	-	2	560	c.401_splice	c.e2+1	p.R134_splice	CSMD3_uc003ynt.3_Splice_Site_p.R94_splice|CSMD3_uc011lhx.2_Splice_Site_p.R134_splice|CSMD3_uc010mcx.1_Splice_Site_p.R134_splice|CSMD3_uc003ynx.4_Missense_Mutation_p.R134W	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	134	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACACTAACCTTGTCCTAAAG	0.303										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	114326801	T	A	114326801	3	1	8	1	0	0	0	0	1	0	0	0	3979	1623	56	5	11003	5	CSMD3	8	114326801	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	60874372	114326801	32037221	42	529											
PTPN3	5774	broad.mit.edu	37	chr9	112185070	112185070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccactgataaggatctcCgcatggctgggttccacacc	8	9	10	14	1	1	1	0	1	1	0	4	2	3	2	4	3	0	4	4	3	1	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112185070C>T	uc004bed.2	-	12	1176	c.1064G>A	c.(1063-1065)cGg>cAg	p.R355Q	PTPN3_uc004beb.2_Missense_Mutation_p.R224Q|PTPN3_uc004bec.2_Intron|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Intron|PTPN3_uc011lwh.1_Intron|PTPN3_uc011lwe.1_Missense_Mutation_p.R68Q|PTPN3_uc011lwf.1_Intron	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	355					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TAAGGATCTCCGCATGGCTGG	0.453													T	112185070	C	T	112185070	3	4	8	1	0	0	0	0	1	0	0	0	12877	652	23	1	1733	1	PTPN3	9	112185070	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		112185070	29028361	43	530											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900697	112900697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgattgaggaagagatccGagcagctcaggaaagggaag	15	5	15	6	1	1	3	1	2	0	1	2	8	2	6	1	3	2	2	1	3	3	1	rs139808664		TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr9:112900697G>A	uc004bei.2	+	8	3761	c.3569G>A	c.(3568-3570)cGa>cAa	p.R1190Q	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R958Q|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R768Q|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R816Q|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R776Q|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R727Q|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R727Q	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	727							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GAAGAGATCCGAGCAGCTCAG	0.552													A	112900697	G	A	112900697	3	1	8	1	0	0	0	0	1	0	0	0	11486	1058	37	1	2903	1	PALM2-AKAP2	9	112900697	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	715627	112900697	28312734	44	531											
CRTAC1	55118	broad.mit.edu	37	chr10	99683092	99683092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgggccacgttgacctcatCgctcaggatgtcttcccacc	7	9	9	16	3	3	1	2	1	1	0	5	2	4	2	4	2	0	2	4	2	0	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr10:99683092C>T	uc001kou.2	-	3	843	c.487G>A	c.(487-489)Gat>Aat	p.D163N	CRTAC1_uc001kov.3_Missense_Mutation_p.D163N|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	163						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTGACCTCATCGCTCAGGATG	0.612													T	99683092	C	T	99683092	3	4	8	1	0	0	0	0	1	0	0	0	3927	884	31	1	1546	1	CRTAC1	10	99683092	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		99683092	35851655	45	532											
DEAF1	10522	broad.mit.edu	37	chr11	688025	688025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccacctttttcttggcCgggagccagaggggttggag	6	11	15	9	1	1	1	0	0	1	1	2	3	2	3	4	5	1	2	4	5	0	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:688025C>T	uc001lqq.1	-	3	1243	c.550G>A	c.(550-552)Ggc>Agc	p.G184S	DEAF1_uc009ycf.1_Non-coding_Transcript|DEAF1_uc021qbn.1_Missense_Mutation_p.G184S	NM_021008	NP_066288	O75398	DEAF1_HUMAN	Homo sapiens deformed epidermal autoregulatory factor 1 (Drosophila) (DEAF1), mRNA.	184					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		TTTTCTTGGCCGGGAGCCAGA	0.547													T	688025	C	T	688025	3	4	8	1	0	0	0	0	1	0	0	0	4414	652	23	1	1183	1	DEAF1	11	688025	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		688025	134318491	46	533											
OR51E1	143503	broad.mit.edu	37	chr11	4674216	4674216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtggctgctgtggtgCggggggctgcactgatggca	3	11	20	7	1	0	1	0	1	0	0	0	1	0	1	0	7	3	5	0	7	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:4674216C>T	uc021qcq.1	+	0	460	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	OR51E1_uc001lzi.4_Missense_Mutation_p.R154W	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTGGTGCGGGGGGCTGC	0.557													T	4674216	C	T	4674216	3	4	8	1	0	0	0	0	1	0	0	0	11170	759	27	1	462	1	OR51E1	11	4674216	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	3986191	4674216	130332300	47	534											
OR2AG1	144125	broad.mit.edu	37	chr11	6807033	6807033	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgttctatggagctgcCacattcatgtatgtcttgcc	7	14	11	9	0	3	0	1	0	2	0	3	2	3	2	2	2	3	3	2	2	2	5			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:6807033C>G	uc001mer.2	+	0	786	c.765C>G	c.(763-765)gcC>gcG	p.A255A		NM_001004489	NP_001004489	Q9H205	O2AG1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AG, member 1 (OR2AG1), mRNA.	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ATGGAGCTGCCACATTCATGT	0.488													G	6807033	C	G	6807033	2	3	8	1	0	0	0	0	0	0	0	1	11060	581	21	4		4	OR2AG1	11	6807033	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	2132817	6807033	128199483	48	535											
OR4C12	283093	broad.mit.edu	37	chr11	50004010	50004010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaagacctattaaaatgaAttcagtcacattctttttct	13	17	4	7	0	4	2	2	1	2	1	4	2	4	2	1	0	0	1	1	0	5	7			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:50004010A>G	uc010ria.2	-	0	62	c.28T>C	c.(28-30)Ttc>Ctc	p.F10L		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E9K(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTAAAATGAATTCAGTCACA	0.338													G	50004010	A	G	50004010	3	3	8	1	0	0	0	0	1	0	0	0	11122	101	4	3	905	3	OR4C12	11	50004010	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08	43196977	50004010	85002506	49	536											
FIBP	9158	broad.mit.edu	37	chr11	65655866	65655866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagggtcgtgttccccacGaagatgtccagctcactggt	9	10	11	11	2	1	1	1	0	0	1	4	2	3	1	3	2	1	2	3	2	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:65655866G>A	uc001ogd.3	-	0	145	c.24C>T	c.(22-24)ttC>ttT	p.F8F	FIBP_uc001oge.3_Silent_p.F8F|FIBP_uc010roq.1_Silent_p.F8F|FIBP_uc010ror.1_Silent_p.F8F|CCDC85B_uc001ogf.3_5'Flank	NM_198897	NP_942600	O43427	FIBP_HUMAN	Homo sapiens fibroblast growth factor (acidic) intracellular binding protein (FIBP), transcript variant 1, mRNA.	8					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		TGTTCCCCACGAAGATGTCCA	0.682											OREG0021090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65655866	G	A	65655866	2	1	8	1	0	0	0	0	0	0	0	1	5935	1049	37	1		1	FIBP	11	65655866	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	15651856	65655866	69350650	50	537											
MMP1	4312	broad.mit.edu	37	chr11	102663439	102663439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaattgagctcaacttcCgggtagaagggatttgtgcg	11	11	13	6	2	1	3	1	2	0	1	2	4	2	4	1	2	3	2	1	2	4	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:102663439C>T	uc001phi.2	-	6	1073	c.930G>A	c.(928-930)ccG>ccA	p.P310P	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Silent_p.P244P	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	310	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GCTCAACTTCCGGGTAGAAGG	0.423													T	102663439	C	T	102663439	2	4	8	1	0	0	0	0	0	0	0	1	9723	639	23	1		1	MMP1	11	102663439	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	37007573	102663439	32343077	51	538											
OR8D4	338662	broad.mit.edu	37	chr11	123777647	123777647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actcaggttgtctttctgtgGatcaaacatcattaaacatt	12	15	6	8	0	5	0	3	0	2	0	5	1	5	1	0	2	2	1	0	2	3	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr11:123777647G>A	uc010saa.2	+	0	509	c.509G>A	c.(508-510)gGa>gAa	p.G170E		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TCTTTCTGTGGATCAAACATC	0.418													A	123777647	G	A	123777647	3	1	8	1	0	0	0	0	1	0	0	0	11309	1174	41	2	511	2	OR8D4	11	123777647	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	21114208	123777647	11228869	52	539											
KCNMB4	27345	broad.mit.edu	37	chr12	70793987	70793987	+	Splice_Site	DEL	A	A	-																															tttctgtattctattttgttAgtgctcctatatccctccct																										TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:70793987delA	uc001svx.3	+	2	790	c.337_splice	c.e2-2	p.C113_splice		NM_014505	NP_055320	Q86W47	KCMB4_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 4 (KCNMB4), mRNA.	113					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTATTTTGTTAGTGCTCCTAT	0.333													-	70793987	A	-	70793987	8	5	8	1	0	1	0	1	0	0	1	0	8135	434	15	0	341	0	KCNMB4	12	70793987	Splice_Site	DEL	A	TCGA-02-2486-01A-01D-1494-08		70793987	63057908	53	540											
ANKS1B	56899	broad.mit.edu	37	chr12	100166859	100166859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgataattctccagtgacGgtttcacctatgagaataat	12	15	7	7	1	2	3	1	3	1	1	3	4	2	3	2	1	0	1	2	1	4	6			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:100166859G>A	uc001tge.2	-	7	1386	c.969C>T	c.(967-969)acC>acT	p.T323T	ANKS1B_uc001tgf.2_Intron|ANKS1B_uc009ztt.1_Silent_p.T289T	NM_152788	NP_690001	Q7Z6G8	ANS1B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1B (ANKS1B), transcript variant 1, mRNA.	323						Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		CTCCAGTGACGGTTTCACCTA	0.323													A	100166859	G	A	100166859	2	1	8	1	0	0	0	0	0	0	0	1	689	1103	39	1		1	ANKS1B	12	100166859	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	29372872	100166859	33685036	54	541											
KDM2B	84678	broad.mit.edu	37	chr12	121880300	121880300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggggccgcttgggctcctCgccctcgctctcaggctccg	1	8	14	18	5	1	0	1	0	1	0	6	0	3	0	4	4	0	4	4	4	0	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr12:121880300C>T	uc001uat.3	-	18	3048	c.2944G>A	c.(2944-2946)Gag>Aag	p.E982K	KDM2B_uc010szy.2_Missense_Mutation_p.E422K|KDM2B_uc001uaq.3_Missense_Mutation_p.E422K|KDM2B_uc001uar.3_Missense_Mutation_p.E573K|KDM2B_uc001uas.3_Missense_Mutation_p.E913K|KDM2B_uc021rfd.1_Missense_Mutation_p.E913K|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.E982K|KDM2B_uc001uao.3_Missense_Mutation_p.E230K|KDM2B_uc010szx.2_Missense_Mutation_p.E230K|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	982					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TTGGGCTCCTCGCCCTCGCTC	0.687													T	121880300	C	T	121880300	3	4	8	1	0	0	0	0	1	0	0	0	8183	893	31	1	1138	1	KDM2B	12	121880300	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	21713441	121880300	11971595	55	542											
PAN3	255967	broad.mit.edu	37	chr13	28841518	28841518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccctaatgctgatgcctActtcaccaagagaaagtggg	12	9	10	10	0	1	3	1	2	0	1	1	4	1	3	3	1	3	1	3	1	4	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:28841518A>C	uc001urz.3	+	11	1924	c.1772A>C	c.(1771-1773)tAc>tCc	p.Y591S	PAN3_uc010tdo.1_Missense_Mutation_p.Y591S|PAN3_uc001ury.3_Missense_Mutation_p.Y279S|PAN3_uc001urx.3_Missense_Mutation_p.Y391S	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	591	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGATGCCTACTTCACCAAG	0.363													C	28841518	A	C	28841518	3	2	8	1	0	0	0	0	1	0	0	0	11491	391	14	5	1818	5	PAN3	13	28841518	Missense_Mutation	SNP	A	TCGA-02-2486-01A-01D-1494-08		28841518	86328360	56	543											
RXFP2	122042	broad.mit.edu	37	chr13	32360537	32360537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggatctgtctagcaataCgataacggaactatcacctc	13	9	8	11	2	3	0	1	0	2	0	4	3	3	2	1	2	4	1	1	2	6	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr13:32360537C>T	uc001utt.3	+	11	1018	c.947C>T	c.(946-948)aCg>aTg	p.T316M	RXFP2_uc010aba.3_Missense_Mutation_p.T292M	NM_130806	NP_570718	Q8WXD0	RXFP2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 2 (RXFP2), transcript variant 1, mRNA.	316						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TCTAGCAATACGATAACGGAA	0.358													T	32360537	C	T	32360537	3	4	8	1	0	0	0	0	1	0	0	0	13851	536	19	1	993	1	RXFP2	13	32360537	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08	3519019	32360537	82809341	57	544											
SLCO3A1	28232	broad.mit.edu	37	chr15	92663774	92663774	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgcatggagattgcAgtggtggctggcttcgctgc	4	10	16	11	2	0	1	0	0	0	1	1	2	0	1	2	4	3	5	2	4	0	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr15:92663774A>C	uc002bqx.2	+	4	1290	c.1089A>C	c.(1087-1089)gcA>gcC	p.A363A	SLCO3A1_uc002bqy.2_Silent_p.A363A|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.A305A	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	363					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			TGGAGATTGCAGTGGTGGCTG	0.567													C	92663774	A	C	92663774	2	2	8	1	0	0	0	0	0	0	0	1	14822	175	7	5		5	SLCO3A1	15	92663774	Silent	SNP	A	TCGA-02-2486-01A-01D-1494-08		92663774	9867618	58	545											
PDIA2	64714	broad.mit.edu	37	chr16	334899	334899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgcaggacgaggacgtgGccaccttcttggccttggcc	6	8	13	14	2	1	0	0	0	1	0	1	3	1	2	5	5	1	1	5	5	0	3	rs141542731	by1000genomes	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr16:334899G>A	uc002cgn.1	+	8	1670	c.562G>A	c.(562-564)Gcc>Acc	p.A188T	LUC7L_uc021szo.1_Intron|PDIA2_uc002cgo.1_Missense_Mutation_p.A188T|PDIA2_uc010bqt.1_Missense_Mutation_p.A33T	NM_006849	NP_006840	Q13087	PDIA2_HUMAN	Homo sapiens protein disulfide isomerase family A, member 2 (PDIA2), mRNA.	188					apoptosis|cell redox homeostasis|glycerol ether metabolic process|protein folding|protein retention in ER lumen|response to hypoxia	endoplasmic reticulum lumen	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity|steroid binding			breast(1)|central_nervous_system(4)|kidney(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	17		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CGAGGACGTGGCCACCTTCTT	0.672													A	334899	G	A	334899	3	1	8	1	0	0	0	0	1	0	0	0	11744	1203	42	2	576	2	PDIA2	16	334899	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		334899	90019854	59	546											
MYH13	8735	broad.mit.edu	37	chr17	10212612	10212612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgctctgacagcctgCgggtccgctccgtctgttcc	2	11	11	17	3	2	1	0	1	2	0	6	1	6	1	5	1	3	4	5	1	0	1	rs142532419	by1000genomes	TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:10212612C>T	uc002gmk.1	-	34	5198	c.5108G>A	c.(5107-5109)cGc>cAc	p.R1703H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1703					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1703S(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGACAGCCTGCGGGTCCGCTC	0.667													T	10212612	C	T	10212612	3	4	8	1	0	0	0	0	1	0	0	0	10108	768	27	1	736	1	MYH13	17	10212612	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		10212612	70982598	60	547											
STAT5A	6776	broad.mit.edu	37	chr17	40458321	40458321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtgtgaggcgctcaaCatgaaattcaaggccgaagt	12	8	12	9	2	2	2	2	2	0	0	2	3	2	2	1	2	2	2	1	2	4	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:40458321C>T	uc002hzj.2	+	13	2178	c.1536C>T	c.(1534-1536)aaC>aaT	p.N512N	STAT5A_uc010cya.2_Silent_p.N512N|STAT5A_uc010cyb.2_Silent_p.N481N|STAT5A_uc010cyc.2_Silent_p.N482N|STAT5A_uc010cyd.1_5'UTR|STAT5A_uc010cye.1_5'UTR	NM_003152	NP_003143	P42229	STA5A_HUMAN	Homo sapiens signal transducer and activator of transcription 5A (STAT5A), mRNA.	512					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		AGGCGCTCAACATGAAATTCA	0.572													T	40458321	C	T	40458321	2	4	8	1	0	0	0	0	0	0	0	1	15364	477	17	2		2	STAT5A	17	40458321	Silent	SNP	C	TCGA-02-2486-01A-01D-1494-08	30245709	40458321	40736889	61	548											
MPP3	4356	broad.mit.edu	37	chr17	41888484	41888484	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaagcaacgtacttgtTgtgatgtaagtcggcctcaa	11	11	9	10	2	2	1	2	1	0	0	3	1	2	1	2	1	3	4	2	1	5	4			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr17:41888484T>G	uc002ieh.3	-	14	1681	c.1420A>C	c.(1420-1422)Aac>Cac	p.N474H	MPP3_uc002iei.4_Missense_Mutation_p.N449H|MPP3_uc002iej.3_Non-coding_Transcript	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	449	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		ACGTACTTGTTGTGATGTAAG	0.483													G	41888484	T	G	41888484	3	3	8	1	0	0	0	0	1	0	0	0	9811	1812	63	5	428	5	MPP3	17	41888484	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	1430163	41888484	39306726	62	549											
ASXL3	80816	broad.mit.edu	37	chr18	31320334	31320334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgatcagtcaacccGgaacatatcatctagcagcc	15	7	8	11	1	4	3	3	1	1	2	4	4	4	4	2	1	4	1	2	1	5	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:31320334G>A	uc010dmg.1	+	10	3021	c.2966G>A	c.(2965-2967)cGg>cAg	p.R989Q	ASXL3_uc002kxq.2_Missense_Mutation_p.R696Q	NM_030632	NP_085135	Q9C0F0	ASXL3_HUMAN	Homo sapiens additional sex combs like 3 (Drosophila) (ASXL3), mRNA.	989					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CAGTCAACCCGGAACATATCA	0.433													A	31320334	G	A	31320334	3	1	8	1	0	0	0	0	1	0	0	0	1073	1116	39	1	3008	1	ASXL3	18	31320334	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		31320334	46756914	63	550											
ZNF516	9658	broad.mit.edu	37	chr18	74154420	74154420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcacttgaacggcttGtgcgcctggtgcacgtgcag	6	9	14	12	3	0	1	0	1	0	0	0	1	0	1	2	2	6	4	2	2	1	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr18:74154420G>T	uc021ulp.1	-	2	909	c.591C>A	c.(589-591)caC>caA	p.H197Q		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		TGAACGGCTTGTGCGCCTGGT	0.667													T	74154420	G	T	74154420	3	4	8	1	0	0	0	0	1	0	0	0	18061	1368	48	4	2921	4	ZNF516	18	74154420	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08	42834086	74154420	3922828	64	551											
CCDC105	126402	broad.mit.edu	37	chr19	15132195	15132195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctaaacgaagccaagcGgttgttggtcgagtccaagg	10	7	15	9	4	0	0	0	0	0	0	2	2	1	0	2	4	3	3	2	4	5	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:15132195G>A	uc002nae.2	+	3	1004	c.905G>A	c.(904-906)cGg>cAg	p.R302Q		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	302					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GAAGCCAAGCGGTTGTTGGTC	0.597													A	15132195	G	A	15132195	3	1	8	1	0	0	0	0	1	0	0	0	2766	1116	39	1	919	1	CCDC105	19	15132195	Missense_Mutation	SNP	G	TCGA-02-2486-01A-01D-1494-08		15132195	43996788	65	552											
TMEM161A	54929	broad.mit.edu	37	chr19	19232455	19232455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgccagtcccacgcggaTagccagcttggccacaggaa	10	5	11	15	2	0	0	0	0	0	0	1	2	1	2	4	3	3	1	4	3	2	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:19232455T>C	uc002nlg.3	-	7	709	c.679A>G	c.(679-681)Atc>Gtc	p.I227V	TMEM161A_uc002nli.3_Missense_Mutation_p.I124V	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	227					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		p.I227I(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCCACGCGGATAGCCAGCTTG	0.677													C	19232455	T	C	19232455	3	2	8	1	0	0	0	0	1	0	0	0	16176	1406	49	3	780	3	TMEM161A	19	19232455	Missense_Mutation	SNP	T	TCGA-02-2486-01A-01D-1494-08	4100260	19232455	39896528	66	553											
NUP62	23636	broad.mit.edu	37	chr19	50411934	50411934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcaccttctccacctcGcggtgcaggctggtgatctt	5	12	10	14	2	3	1	1	1	2	0	5	1	3	1	3	3	2	3	3	3	0	3			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr19:50411934G>A	uc002prb.3	-	1	1375	c.1131C>T	c.(1129-1131)cgC>cgT	p.R377R	IL4I1_uc021uxy.1_Intron|IL4I1_uc002pqu.2_Intron|IL4I1_uc010eno.2_Intron|IL4I1_uc002pqv.2_Intron|NUP62_uc002pqx.3_Silent_p.R377R|NUP62_uc002pqy.3_Silent_p.R377R|NUP62_uc002pra.3_Silent_p.R377R|NUP62_uc002pqz.3_Silent_p.R377R|NUP62_uc002prc.3_Silent_p.R301R|NUP62_uc021uya.1_Silent_p.R377R	NM_012346	NP_714941	P37198	NUP62_HUMAN	Homo sapiens nucleoporin 62kDa (NUP62), transcript variant 4, mRNA.	377					carbohydrate metabolic process|cell death|cell surface receptor linked signaling pathway|glucose transport|hormone-mediated signaling pathway|mRNA transport|negative regulation of apoptosis|negative regulation of cell proliferation|nucleocytoplasmic transport|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|protein transport|regulation of glucose transport|transcription, DNA-dependent|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleocytoplasmic shuttling complex|ribonucleoprotein complex|spindle pole	chromatin binding|protein serine/threonine kinase activity|receptor signaling complex scaffold activity|SH2 domain binding|structural constituent of nuclear pore|thyroid hormone receptor binding|ubiquitin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|stomach(1)|urinary_tract(2)	19		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00242)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TCTCCACCTCGCGGTGCAGGC	0.612													A	50411934	G	A	50411934	2	1	8	1	0	0	0	0	0	0	0	1	10844	1074	38	1		1	NUP62	19	50411934	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08	31179479	50411934	8717049	67	554											
ISM1	140862	broad.mit.edu	37	chr20	13279712	13279712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaggtggcctacagcaCggccgacatcttcgaccgca	9	6	11	15	4	1	1	0	1	1	0	2	3	1	1	3	3	2	2	3	3	1	2			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chr20:13279712C>T	uc010gce.1	+	5	1007	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	334	AMOP.					extracellular region		p.T334T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCCTACAGCACGGCCGACATC	0.582													T	13279712	C	T	13279712	3	4	8	1	0	0	0	0	1	0	0	0	7918	536	19	1	1023	1	ISM1	20	13279712	Missense_Mutation	SNP	C	TCGA-02-2486-01A-01D-1494-08		13279712	49745808	68	555											
GRPR	2925	broad.mit.edu	37	chrX	16142187	16142187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgatgactggtcccacccGgggatcctctatgtcatccc	8	9	9	15	2	2	1	1	1	1	0	5	3	5	2	4	3	1	0	4	3	2	1			TCGA-02-2486-01A-01D-1494-08	TCGA-02-2486-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3331813c-f538-4833-b5eb-a214b7d52334	334697ef-d664-4d24-9ddb-c4d7448fd00d	g.chrX:16142187G>A	uc004cxj.3	+	0	764	c.111G>A	c.(109-111)ccG>ccA	p.P37P		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	37					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGTCCCACCCGGGGATCCTCT	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16142187	G	A	16142187	2	1	8	1	0	0	0	0	0	0	0	1	6863	1103	39	1		1	GRPR	23	16142187	Silent	SNP	G	TCGA-02-2486-01A-01D-1494-08		16142187	139128373	69	556											
TTC22	55001	broad.mit.edu	37	chr1	55266546	55266546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcattgaggttgccCgggtgctcgtgggccacctc	4	8	15	14	2	0	1	0	1	0	0	2	1	0	1	4	4	2	3	4	4	0	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:55266546C>T	uc009vzt.1	-	0	396	c.291G>A	c.(289-291)ccG>ccA	p.P97P	TTC22_uc001cxz.4_Silent_p.P97P	NM_001114108	NP_001107580	Q5TAA0	TTC22_HUMAN	Homo sapiens tetratricopeptide repeat domain 22 (TTC22), transcript variant 1, mRNA.	97							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TGAGGTTGCCCGGGTGCTCGT	0.687													T	55266546	C	T	55266546	2	4	9	1	0	0	0	0	0	0	0	1	16791	639	23	1		1	TTC22	1	55266546	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08		55266546	193984075	1	557											
SPAG17	200162	broad.mit.edu	37	chr1	118624163	118624163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatctgacccacacatcatcCcagaaggtttcagtttccct	11	11	5	14	0	3	2	2	1	1	1	5	2	5	2	3	1	0	2	3	1	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:118624163C>G	uc001ehk.2	-	13	1933	c.1865G>C	c.(1864-1866)gGg>gCg	p.G622A	SPAG17_uc021oss.1_5'Flank	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	622						cilium|flagellar axoneme|microtubule		p.G622G(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ACACATCATCCCAGAAGGTTT	0.428													G	118624163	C	G	118624163	3	3	9	1	0	0	0	0	1	0	0	0	15075	623	22	4	4946	4	SPAG17	1	118624163	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	63357617	118624163	130626458	2	558											
ADAM30	11085	broad.mit.edu	37	chr1	120438344	120438344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcaaagagtaggatcaattCcaagtactttgggtgtttat	13	14	9	5	0	2	1	2	0	0	1	3	2	3	2	1	2	1	3	1	2	6	6			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:120438344C>G	uc001eij.3	-	0	804	c.616G>C	c.(616-618)Gaa>Caa	p.E206Q		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	206	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AGGATCAATTCCAAGTACTTT	0.403													G	120438344	C	G	120438344	3	3	9	1	0	0	0	0	1	0	0	0	248	864	30	4	1760	4	ADAM30	1	120438344	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1814181	120438344	128812277	3	559											
GPR52	9293	broad.mit.edu	37	chr1	174417320	174417320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgaatgtgtccgagcGtcactcctgcccacttggat	7	12	10	12	2	1	1	1	1	0	0	3	3	3	2	3	1	2	0	3	1	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:174417320G>A	uc001gka.1	+	0	109	c.71G>A	c.(70-72)cGt>cAt	p.R24H	RABGAP1L_uc001gjw.3_Intron|RABGAP1L_uc001gjx.3_Intron|RABGAP1L_uc001gjy.3_Intron|RABGAP1L_uc001gjz.3_Intron	NM_005684	NP_005675	Q9Y2T5	GPR52_HUMAN	Homo sapiens G protein-coupled receptor 52 (GPR52), mRNA.	24						integral to plasma membrane	G-protein coupled receptor activity	p.R24H(2)		breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						GTGTCCGAGCGTCACTCCTGC	0.483													A	174417320	G	A	174417320	3	1	9	1	0	0	0	0	1	0	0	0	6752	1145	40	1	73	1	GPR52	1	174417320	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	53978976	174417320	74833301	4	560											
HMCN1	83872	broad.mit.edu	37	chr1	186056355	186056355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatttacctacaggtggtcGaactctacagattattcggg	10	13	9	9	2	1	1	0	0	1	1	3	2	1	1	1	3	4	0	1	3	6	7			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:186056355G>A	uc001grq.1	+	58	9282	c.9053G>A	c.(9052-9054)cGa>cAa	p.R3018Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3018	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACAGGTGGTCGAACTCTACAG	0.383													A	186056355	G	A	186056355	3	1	9	1	0	0	0	0	1	0	0	0	7275	1058	37	1	9287	1	HMCN1	1	186056355	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	11639035	186056355	63194266	5	561											
COG2	22796	broad.mit.edu	37	chr1	230807312	230807312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaatggccttcaggtcatGtataataaactcctggagtt	11	12	8	10	0	2	0	2	0	0	0	3	1	3	1	3	3	1	2	3	3	5	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:230807312G>C	uc001htw.3	+	7	976	c.825G>C	c.(823-825)atG>atC	p.M275I	COG2_uc001htx.3_Missense_Mutation_p.M275I|COG2_uc010pwc.2_Missense_Mutation_p.M148I	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	275					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TTCAGGTCATGTATAATAAAC	0.393													C	230807312	G	C	230807312	3	2	9	1	0	0	0	0	1	0	0	0	3689	1377	48	4	855	4	COG2	1	230807312	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	44750957	230807312	18443309	6	562											
PCNXL2	80003	broad.mit.edu	37	chr1	233394169	233394169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatgaagaactgtgatccTtgatggcatttcccccctcc	8	12	9	12	0	0	5	0	4	0	1	3	5	3	5	5	1	1	1	5	1	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr1:233394169T>C	uc001hvl.2	-	4	1674	c.1439A>G	c.(1438-1440)aAg>aGg	p.K480R	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	480						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTGTGATCCTTGATGGCATT	0.542													C	233394169	T	C	233394169	3	2	9	1	0	0	0	0	1	0	0	0	11668	1609	56	3	5094	3	PCNXL2	1	233394169	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	2586857	233394169	15856452	7	563											
C2orf16	84226	broad.mit.edu	37	chr2	27801373	27801373	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcttcaagaactgatagTacctgcagaattaactccaa	16	10	5	10	0	2	3	1	1	1	2	3	3	3	3	2	0	4	2	2	0	7	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:27801373T>C	uc002rkz.4	+	0	1985	c.1934T>C	c.(1933-1935)gTa>gCa	p.V645A		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	645										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAACTGATAGTACCTGCAGAA	0.403													C	27801373	T	C	27801373	3	2	9	1	0	0	0	0	1	0	0	0	2178	1638	57	3	1936	3	C2orf16	2	27801373	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08		27801373	215398000	8	564											
SLC9A4	389015	broad.mit.edu	37	chr2	103149074	103149074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttggttgaggttcggtCgaggtggacagctgaccatg	6	12	15	8	2	1	2	0	2	1	0	3	4	1	3	1	5	1	3	1	5	0	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:103149074C>T	uc002tbz.4	+	11	2781	c.2324C>T	c.(2323-2325)tCg>tTg	p.S775L		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	775					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.R774W(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GAGGTTCGGTCGAGGTGGACA	0.517													T	103149074	C	T	103149074	3	4	9	1	0	0	0	0	1	0	0	0	14810	893	31	1	2370	1	SLC9A4	2	103149074	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	75347701	103149074	140050299	9	565											
LRP2	4036	broad.mit.edu	37	chr2	169985569	169985569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtagtttgtttagattttCgtttgaagagattccatttt	8	21	9	3	1	0	3	0	1	0	2	2	4	1	3	1	1	0	4	1	1	3	10			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:169985569C>T	uc002ues.3	-	77	13967	c.13754G>A	c.(13753-13755)cGa>cAa	p.R4585Q		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4585					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R4585*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTAGATTTTCGTTTGAAGAG	0.313													T	169985569	C	T	169985569	3	4	9	1	0	0	0	0	1	0	0	0	9026	884	31	1	221	1	LRP2	2	169985569	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	66836495	169985569	73213804	10	566											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:179463526C>T	uc021vsy.1	-	239	49432	c.49207G>A	c.(49207-49209)Gtg>Atg	p.V16403M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17330	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428													T	179463526	C	T	179463526	3	4	9	1	0	0	0	0	1	0	0	0	16837	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	9477957	179463526	63735847	11	567											
PID1	55022	broad.mit.edu	37	chr2	229890703	229890703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggatttccaggagggcaTtggccggaaagacatcctct	9	8	13	11	2	1	1	0	0	1	1	3	4	3	4	4	5	0	1	4	5	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:229890703T>C	uc002vpr.4	-	2	436	c.398A>G	c.(397-399)aAt>aGt	p.N133S	PID1_uc002vps.4_Missense_Mutation_p.N131S|PID1_uc002vpt.4_Missense_Mutation_p.N100S|PID1_uc002vpu.4_Missense_Mutation_p.N51S	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	133	PID.					cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CAGGAGGGCATTGGCCGGAAA	0.557													C	229890703	T	C	229890703	3	2	9	1	0	0	0	0	1	0	0	0	11959	1493	52	3	358	3	PID1	2	229890703	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	50427177	229890703	13308670	12	568											
COL6A3	1293	broad.mit.edu	37	chr2	238285526	238285526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaacgctggagacagcaCgatctgctctaactcagcag	13	7	10	11	2	3	1	1	0	2	1	3	4	3	1	0	1	5	4	0	1	3	2	rs140437593	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr2:238285526C>T	uc002vwl.2	-	6	3244	c.2959G>A	c.(2959-2961)Gtg>Atg	p.V987M	COL6A3_uc002vwo.2_Missense_Mutation_p.V781M|COL6A3_uc010znj.1_Missense_Mutation_p.V380M|COL6A3_uc002vwq.3_Missense_Mutation_p.V781M|COL6A3_uc002vwr.3_Missense_Mutation_p.V580M|COL6A3_uc010znk.1_Missense_Mutation_p.V787M	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	987	Nonhelical region.|VWFA 5.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAGACAGCACGATCTGCTCT	0.512													T	238285526	C	T	238285526	3	4	9	1	0	0	0	0	1	0	0	0	3732	536	19	1	6773	1	COL6A3	2	238285526	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	8394823	238285526	4913847	13	569											
CACNA1D	776	broad.mit.edu	37	chr3	53769408	53769408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttccctgcaggatccgcGtaggctgccacaagctcatc	7	10	9	15	2	1	0	1	0	0	0	4	1	3	1	3	2	3	4	3	2	2	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:53769408G>A	uc003dgv.4	+	19	2792	c.2629G>A	c.(2629-2631)Gta>Ata	p.V877I	CACNA1D_uc003dgu.4_Missense_Mutation_p.V897I|CACNA1D_uc003dgy.4_Missense_Mutation_p.V877I|CACNA1D_uc003dgw.4_Missense_Mutation_p.V544I|CACNA1D_uc003dgx.1_Missense_Mutation_p.V25I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	877					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CAGGATCCGCGTAGGCTGCCA	0.587													A	53769408	G	A	53769408	3	1	9	1	0	0	0	0	1	0	0	0	2567	1145	40	1	2879	1	CACNA1D	3	53769408	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		53769408	144253022	14	570											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	9	1	0	0	0	0	1	0	0	0	11990	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	125166683	178936091	19086339	15	571											
CSN2	1447	broad.mit.edu	37	chr4	70823297	70823297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatttgagggtcaaaaaaggGtatcgttggagatttaagga	14	11	14	2	1	1	2	1	1	0	1	2	5	1	3	0	4	0	2	0	4	5	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:70823297G>T	uc003hes.4	-	4	383	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CSN2_uc003het.4_Missense_Mutation_p.P123T	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	124					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						TCAAAAAAGGGTATCGTTGGA	0.483													T	70823297	G	T	70823297	3	4	9	1	0	0	0	0	1	0	0	0	3981	1261	44	4	318	4	CSN2	4	70823297	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		70823297	120330979	16	572											
KIAA1109	84162	broad.mit.edu	37	chr4	123200986	123200986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctacagtgcccaaagagGgctgaagacaaacaatgctg	14	6	10	11	0	1	3	0	1	1	2	1	3	1	3	2	1	4	2	2	1	5	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr4:123200986G>T	uc003ieh.3	+	48	8693	c.8648G>T	c.(8647-8649)gGg>gTg	p.G2883V	KIAA1109_uc003iel.1_Missense_Mutation_p.G818V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2883					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCCCAAAGAGGGCTGAAGACA	0.433													T	123200986	G	T	123200986	3	4	9	1	0	0	0	0	1	0	0	0	8266	1232	43	4	8842	4	KIAA1109	4	123200986	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	52377689	123200986	67953290	17	573											
ADAMTS16	170690	broad.mit.edu	37	chr5	5262847	5262847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcaatcccaagacaCgacctgtcacggggctggtg	8	8	11	14	2	2	1	1	0	1	1	3	2	3	1	3	3	1	2	3	3	2	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:5262847C>T	uc003jdl.3	+	17	2878	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ADAMTS16_uc003jdk.1_Nonsense_Mutation_p.R914*	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	914	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TCCCAAGACACGACCTGTCAC	0.512													T	5262847	C	T	5262847	4	4	9	1	0	0	0	0	0	1	0	0	261	528	19	1	2810	1	ADAMTS16	5	5262847	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		5262847	175652413	18	574											
PCDHB15	56121	broad.mit.edu	37	chr5	140627258	140627258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgctcttcctcttctcGgtgttcctgttcgtggcagt	1	18	9	13	3	4	0	0	0	4	0	9	0	6	0	2	2	0	4	2	2	0	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:140627258G>A	uc003lje.3	+	0	2112	c.2112G>A	c.(2110-2112)tcG>tcA	p.S704S		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	704					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTCTTCTCGGTGTTCCTGT	0.682													A	140627258	G	A	140627258	2	1	9	1	0	0	0	0	0	0	0	1	11616	1103	39	1		1	PCDHB15	5	140627258	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	135364411	140627258	40288002	19	575											
KCTD16	57528	broad.mit.edu	37	chr5	143586570	143586570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggtggtcctgcctgAtcactttccagaaaaaggaa	12	8	11	10	0	1	2	1	1	0	1	3	3	3	3	3	4	1	1	3	4	3	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr5:143586570A>T	uc003lnm.1	+	2	922	c.293A>T	c.(292-294)gAt>gTt	p.D98V	KCTD16_uc003lnn.1_Missense_Mutation_p.D98V	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	98	BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GTCCTGCCTGATCACTTTCCA	0.478													T	143586570	A	T	143586570	3	4	9	1	0	0	0	0	1	0	0	0	8161	333	12	5	295	5	KCTD16	5	143586570	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	2959312	143586570	37328690	20	576											
OR12D2	26529	broad.mit.edu	37	chr6	29364556	29364556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagccttttctcttcgTggttttcctcaccatctact	5	17	5	14	1	3	0	1	0	2	0	6	0	4	0	3	1	3	2	3	1	1	6			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29364556T>C	uc003nmf.4	+	0	141	c.80T>C	c.(79-81)gTg>gCg	p.V27A		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TTTCTCTTCGTGGTTTTCCTC	0.438													C	29364556	T	C	29364556	3	2	9	1	0	0	0	0	1	0	0	0	11007	1696	59	3	82	3	OR12D2	6	29364556	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08		29364556	141750511	21	577											
UBD	10537	broad.mit.edu	37	chr6	29523710	29523710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagttgccctttctgatgcCgtaatctgccatcatcttcc	7	15	6	13	1	4	1	1	1	3	0	5	1	5	1	4	0	3	2	4	0	2	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:29523710C>T	uc003nmo.3	-	1	669	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	GABBR1_uc003nmp.4_3'UTR	NM_006398	NP_006389	O15205	UBD_HUMAN	Homo sapiens ubiquitin D (UBD), mRNA.	149	Ubiquitin 2.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TTTCTGATGCCGTAATCTGCC	0.473													T	29523710	C	T	29523710	3	4	9	1	0	0	0	0	1	0	0	0	16945	652	23	1	56	1	UBD	6	29523710	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	159154	29523710	141591357	22	578											
COL12A1	1303	broad.mit.edu	37	chr6	75840567	75840567	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaggatttctgcctcaCgcgttcggccctgggcaggg	7	8	15	11	3	2	1	1	0	1	1	3	3	2	2	2	4	1	2	2	4	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:75840567C>T	uc021zbv.1	-	35	6102	c.6067_splice	c.e35+1	p.L2023_splice	COL12A1_uc021zbw.1_Splice_Site_p.L859_splice|COL12A1_uc003phs.3_Splice_Site_p.L2023_splice|COL12A1_uc003pht.3_Splice_Site_p.L859_splice	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	2023					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTGCCTCACGCGTTCGGCC	0.562													T	75840567	C	T	75840567	5	4	9	1	0	0	0	0	0	0	1	0	3700	550	19	1	3247	1	COL12A1	6	75840567	Splice_Site	SNP	C	TCGA-06-0119-01A-08D-1490-08	46316857	75840567	95274500	23	579											
THEMIS	387357	broad.mit.edu	37	chr6	128134889	128134889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttcccaggctgtaaaatGctttggggcaggtggtttcc	6	14	13	8	0	0	0	0	0	0	0	2	0	2	0	2	5	1	6	2	5	2	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:128134889G>A	uc011ebt.2	-	3	1046	c.897C>T	c.(895-897)agC>agT	p.S299S	THEMIS_uc010kfa.3_Silent_p.S202S|THEMIS_uc021zfa.1_Silent_p.S299S|THEMIS_uc010kfb.3_Silent_p.S264S	NM_001164685	NP_001158157	Q8N1K5	THMS1_HUMAN	Homo sapiens thymocyte selection associated (THEMIS), transcript variant 1, mRNA.	299	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						GCTGTAAAATGCTTTGGGGCA	0.393													A	128134889	G	A	128134889	2	1	9	1	0	0	0	0	0	0	0	1	15960	1310	46	2		2	THEMIS	6	128134889	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	52294322	128134889	42980178	24	580											
GPR126	57211	broad.mit.edu	37	chr6	142736934	142736934	+	Frame_Shift_Del	DEL	A	A	-																															tccttttttcattttttaggAaattgcgaagggattatccc																										TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr6:142736934delA	uc010khe.3	+	20	3081	c.2670_splice	c.e20-1	p.E890_splice	GPR126_uc010khc.3_Splice_Site_p.E890_splice|GPR126_uc010khd.3_Splice_Site_p.E862_splice|GPR126_uc010khf.3_Splice_Site_p.E862_splice	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	890					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		ATTTTTTAGGAAATTGCGAAG	0.398													-	142736934	A	-	142736934	7	5	9	1	0	1	0	1	0	0	0	0	6694	260	9	0	2749	0	GPR126	6	142736934	Frame_Shift_Del	DEL	A	TCGA-06-0119-01A-08D-1490-08	14602045	142736934	28378133	25	581											
SEMA3E	9723	broad.mit.edu	37	chr7	83016344	83016344	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctgcatttccatgtcGaacatcttgtctccggaaac	9	12	8	12	2	2	1	0	1	2	0	5	3	3	2	2	1	4	2	2	1	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:83016344G>A	uc003uhy.2	-	14	2311	c.1690C>T	c.(1690-1692)Cga>Tga	p.R564*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R504*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	564					axon guidance	extracellular space|membrane	receptor activity	p.R564Q(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTCCATGTCGAACATCTTGT	0.363													A	83016344	G	A	83016344	4	1	9	1	0	0	0	0	0	1	0	0	14121	1066	37	1	649	1	SEMA3E	7	83016344	Nonsense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		83016344	76122319	26	582											
COL1A2	1278	broad.mit.edu	37	chr7	94052404	94052404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggcttcgctggtgagaagGgtccctctggagaggctggt	5	10	17	9	1	1	2	0	1	1	2	3	4	2	2	1	6	0	3	1	6	1	1	rs72658196		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:94052404G>A	uc003ung.1	+	39	3010	c.2539G>A	c.(2539-2541)Ggt>Agt	p.G847S	COL1A2_uc011kib.1_Intron|COL1A2_uc010lfi.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	847			Missing (in OI2A).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G847S(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGAGAAGGGTCCCTCTGG	0.502										HNSCC(75;0.22)			A	94052404	G	A	94052404	3	1	9	1	0	0	0	0	1	0	0	0	3709	1232	43	2	2697	2	COL1A2	7	94052404	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	11036060	94052404	65086259	27	583											
TRIM4	89122	broad.mit.edu	37	chr7	99516919	99516919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcccagttgcggtgcaGgcagccgcggcagaagttgt	6	6	17	12	5	0	1	0	0	0	1	0	1	0	1	2	4	3	5	2	4	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:99516919G>T	uc003usd.3	-	0	305	c.106C>A	c.(106-108)Ctg>Atg	p.L36M	TRIM4_uc003use.3_Missense_Mutation_p.L36M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.L36M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	36					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TTGCGGTGCAGGCAGCCGCGG	0.701													T	99516919	G	T	99516919	3	4	9	1	0	0	0	0	1	0	0	0	16615	991	35	4	1424	4	TRIM4	7	99516919	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	5464515	99516919	59621744	28	584											
OR2A12	346525	broad.mit.edu	37	chr7	143792582	143792582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatgtggcaatctgtcacCccttgcaatacaccctcatt	9	12	7	13	0	3	0	2	0	1	0	3	0	3	0	3	2	2	3	3	2	4	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr7:143792582C>A	uc011kty.2	+	0	382	c.382C>A	c.(382-384)Ccc>Acc	p.P128T		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					AATCTGTCACCCCTTGCAATA	0.433													A	143792582	C	A	143792582	3	1	9	1	0	0	0	0	1	0	0	0	11051	623	22	4	384	4	OR2A12	7	143792582	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	44275663	143792582	15346081	29	585											
PTK2B	2185	broad.mit.edu	37	chr8	27301729	27301729	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctctctccagcccagcCgacctaagtacagaccccct	8	9	6	18	1	2	1	0	0	2	1	4	2	2	1	6	0	3	2	6	0	2	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:27301729C>T	uc003xfn.2	+	27	2963	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	PTK2B_uc022ate.1_Nonsense_Mutation_p.R719*|PTK2B_uc003xfp.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfq.2_Nonsense_Mutation_p.R719*|PTK2B_uc003xfr.1_Nonsense_Mutation_p.R465*	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	719	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		CCAGCCCAGCCGACCTAAGTA	0.542													T	27301729	C	T	27301729	4	4	9	1	0	0	0	0	0	1	0	0	12849	644	23	1	2241	1	PTK2B	8	27301729	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		27301729	119062293	30	586											
RAD54B	25788	broad.mit.edu	37	chr8	95403893	95403893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagttttttaagagctcctaTacatattagatggggactat	12	15	8	6	0	0	2	0	0	0	2	1	3	1	3	1	2	2	2	1	2	6	8			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:95403893T>A	uc003ygk.3	-	9	1884	c.1753A>T	c.(1753-1755)Ata>Tta	p.I585L	RAD54B_uc010may.2_Missense_Mutation_p.I401L|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAGCTCCTATACATATTAGA	0.408								Direct reversal of damage;Homologous recombination					A	95403893	T	A	95403893	3	1	9	1	0	0	0	0	1	0	0	0	13080	1406	49	5	1003	5	RAD54B	8	95403893	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	68102164	95403893	50960129	31	587											
PLEC	5339	broad.mit.edu	37	chr8	144990758	144990758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccgtgccgcgctgcagggCctcgtccaggggcacgcggc	4	4	16	17	6	0	0	0	0	0	0	2	0	1	0	4	4	2	3	4	4	0	0			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr8:144990758C>T	uc003zaf.1	-	31	13812	c.13642G>A	c.(13642-13644)Gcc>Acc	p.A4548T	PLEC_uc003zab.1_Missense_Mutation_p.A4411T|PLEC_uc003zac.1_Missense_Mutation_p.A4415T|PLEC_uc003zad.2_Missense_Mutation_p.A4411T|PLEC_uc003zae.1_Missense_Mutation_p.A4379T|PLEC_uc003zag.1_Missense_Mutation_p.A4389T|PLEC_uc003zah.2_Missense_Mutation_p.A4397T|PLEC_uc003zaj.2_Missense_Mutation_p.A4438T	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4548	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTGCAGGGCCTCGTCCAGG	0.682													T	144990758	C	T	144990758	3	4	9	1	0	0	0	0	1	0	0	0	12129	739	26	2	416	2	PLEC	8	144990758	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	49586865	144990758	1373264	32	588											
RMI1	80010	broad.mit.edu	37	chr9	86616796	86616796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaagaccaaaagaggaaCcatcaaacctatctatacat	18	7	4	12	0	2	2	1	0	1	2	3	3	3	3	4	1	3	0	4	1	8	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:86616796C>A	uc022bjb.1	+	0	895	c.895C>A	c.(895-897)Cca>Aca	p.P299T	RMI1_uc004anq.4_Missense_Mutation_p.P299T|RMI1_uc004anr.4_Missense_Mutation_p.P299T|RMI1_uc004anp.4_Missense_Mutation_p.P299T|RMI1_uc004ans.4_Missense_Mutation_p.P299T	NM_024945	NP_079221	Q9H9A7	RMI1_HUMAN	Homo sapiens RMI1, RecQ mediated genome instability 1, homolog (S. cerevisiae) (RMI1), mRNA.	299					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAAAGAGGAACCATCAAACCT	0.398													A	86616796	C	A	86616796	3	1	9	1	0	0	0	0	1	0	0	0	13486	507	18	4	897	4	RMI1	9	86616796	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		86616796	54596635	33	589											
LHX3	8022	broad.mit.edu	37	chr9	139092527	139092527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgagacacttgctgtgcCagtggcggtccagagccttg	7	10	13	11	1	0	2	0	1	0	2	1	3	1	2	3	2	3	1	3	2	0	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr9:139092527C>A	uc004cgz.3	-	1	286	c.167G>T	c.(166-168)tGg>tTg	p.W56L	LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Missense_Mutation_p.W51L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	51	LIM zinc-binding 1.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTTGCTGTGCCAGTGGCGGTC	0.607													A	139092527	C	A	139092527	3	1	9	1	0	0	0	0	1	0	0	0	8832	595	21	4	1061	4	LHX3	9	139092527	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	52475731	139092527	2120904	34	590											
OR56A4	120793	broad.mit.edu	37	chr11	6023660	6023660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcatcacaagagagtttgGacacagacaggttactgcag	13	9	11	8	0	2	2	2	0	0	2	2	4	2	3	0	2	2	3	0	2	2	2	rs116778909	by1000genomes	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:6023660G>A	uc010qzv.2	-	0	719	c.719C>T	c.(718-720)tCc>tTc	p.S240F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S240F(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAGAGTTTGGACACAGACAG	0.443													A	6023660	G	A	6023660	3	1	9	1	0	0	0	0	1	0	0	0	11211	1174	41	2	380	2	OR56A4	11	6023660	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		6023660	128982856	35	591											
NAT10	55226	broad.mit.edu	37	chr11	34129864	34129864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgttgtagttggggAtcgaggaaaagatcaggtat	10	14	13	4	1	2	1	1	0	1	1	4	4	2	3	0	4	0	4	0	4	4	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:34129864A>C	uc001mvk.3	+	1	336	c.92A>C	c.(91-93)gAt>gCt	p.D31A	NAT10_uc010ren.2_Intron	NM_024662	NP_078938	Q9H0A0	NAT10_HUMAN	Homo sapiens N-acetyltransferase 10 (GCN5-related) (NAT10), transcript variant 1, mRNA.	31						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GTAGTTGGGGATCGAGGAAAA	0.423													C	34129864	A	C	34129864	3	2	9	1	0	0	0	0	1	0	0	0	10250	333	12	5	94	5	NAT10	11	34129864	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	28106204	34129864	100876652	36	592											
OR8K3	219473	broad.mit.edu	37	chr11	56086106	56086106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctttcttgtgttcatTggtagtgaactttttattct	5	23	7	6	0	4	1	1	1	3	0	4	1	4	1	0	1	1	3	0	1	3	10			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:56086106T>G	uc010rjf.2	+	0	324	c.324T>G	c.(322-324)atT>atG	p.I108M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTGTGTTCATTGGTAGTGAAC	0.378													G	56086106	T	G	56086106	3	3	9	1	0	0	0	0	1	0	0	0	11320	1800	63	5	326	5	OR8K3	11	56086106	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	21956242	56086106	78920410	37	593											
TPCN2	219931	broad.mit.edu	37	chr11	68854047	68854047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgtctgtcatctgggtcaAcctgtttctggccctgattc	4	15	10	12	1	5	1	2	1	3	0	7	1	5	1	2	2	1	1	2	2	1	2	rs150476703		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr11:68854047A>G	uc001oos.2	+	22	2176	c.2060A>G	c.(2059-2061)aAc>aGc	p.N687S	TPCN2_uc010rqg.1_Intron|TPCN2_uc021qmo.1_Non-coding_Transcript	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	687					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ATCTGGGTCAACCTGTTTCTG	0.532													G	68854047	A	G	68854047	3	3	9	1	0	0	0	0	1	0	0	0	16497	43	2	3	2150	3	TPCN2	11	68854047	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	12767941	68854047	66152469	38	594											
SLCO1A2	6579	broad.mit.edu	37	chr12	21457447	21457447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtttcacccattccaCgtacaatattgcctactagg	10	12	8	11	1	1	0	1	0	0	0	2	1	2	1	3	2	3	2	3	2	5	7	rs148616059	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:21457447C>T	uc001rer.3	-	4	754	c.503G>A	c.(502-504)cGt>cAt	p.R168H	SLCO1A2_uc010siq.2_Missense_Mutation_p.R36H|SLCO1A2_uc001res.3_Missense_Mutation_p.R168H|SLCO1A2_uc010sio.2_Missense_Mutation_p.R36H|SLCO1A2_uc010sip.2_Missense_Mutation_p.R36H|SLCO1A2_uc001ret.3_Missense_Mutation_p.R166H|SLCO1A2_uc001reu.2_Missense_Mutation_p.R148H	NM_021094	NP_602307	P46721	SO1A2_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1A2 (SLCO1A2), transcript variant 2, mRNA.	168					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.R168C(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						ACCCATTCCACGTACAATATT	0.348													T	21457447	C	T	21457447	3	4	9	1	0	0	0	0	1	0	0	0	14816	536	19	1	1549	1	SLCO1A2	12	21457447	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		21457447	112394448	39	595											
DDX11	1663	broad.mit.edu	37	chr12	31255360	31255360	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctgggtttctcctacaGgcctgtggccaggagagagg	6	9	16	10	1	2	1	0	0	2	1	3	3	2	2	3	5	1	1	3	5	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:31255360G>T	uc001rjt.1	+	23	2523	c.2272_splice	c.e23-1	p.A758_splice	DDX11_uc001rjr.1_Splice_Site_p.A758_splice|DDX11_uc001rjs.1_Splice_Site_p.A708_splice|DDX11_uc001rju.1_Splice_Site_p.A430_splice|DDX11_uc001rjv.1_Splice_Site_p.A758_splice|DDX11_uc001rjw.1_Splice_Site_p.A732_splice|DDX11_uc009zjn.1_Splice_Site|DDX11_uc009zjo.1_5'Flank	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	758					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TTCTCCTACAGGCCTGTGGCC	0.577										Multiple Myeloma(12;0.14)			T	31255360	G	T	31255360	5	4	9	1	0	0	0	0	0	0	1	0	4377	1014	35	4	2357	4	DDX11	12	31255360	Splice_Site	SNP	G	TCGA-06-0119-01A-08D-1490-08	9797913	31255360	102596535	40	596											
NUP107	57122	broad.mit.edu	37	chr12	69124921	69124921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaacatacaaatcttaTagcattttatacctgtcatt	16	14	4	7	0	2	1	1	0	1	1	2	2	2	1	1	0	4	1	1	0	7	7			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:69124921T>C	uc001suf.3	+	20	1881	c.1766T>C	c.(1765-1767)aTa>aCa	p.I589T	NUP107_uc001sug.3_Intron|NUP107_uc010stj.2_Missense_Mutation_p.I560T	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	589					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			ACAAATCTTATAGCATTTTAT	0.303													C	69124921	T	C	69124921	3	2	9	1	0	0	0	0	1	0	0	0	10829	1406	49	3	1848	3	NUP107	12	69124921	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	37869561	69124921	64726974	41	597											
TRHDE	29953	broad.mit.edu	37	chr12	73014949	73014949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggtggccgaaaaataattTtaatggatctcttgttcaag	12	14	10	5	1	2	0	1	0	1	0	3	2	2	1	1	3	0	1	1	3	5	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr12:73014949T>A	uc001sxa.3	+	13	2426	c.2396T>A	c.(2395-2397)tTt>tAt	p.F799Y		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	799					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AAAAATAATTTTAATGGATCT	0.323													A	73014949	T	A	73014949	3	1	9	1	0	0	0	0	1	0	0	0	16580	1841	64	5	2450	5	TRHDE	12	73014949	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	3890028	73014949	60836946	42	598											
FLT3	2322	broad.mit.edu	37	chr13	28592705	28592705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacaagcacgttcctggCggccaggtctctgtgaacac	8	8	13	12	2	1	2	0	2	1	0	3	2	2	2	2	4	2	2	2	4	2	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr13:28592705C>T	uc001urw.3	-	19	2522	c.2440G>A	c.(2440-2442)Gcc>Acc	p.A814T	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	814	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACGTTCCTGGCGGCCAGGTCT	0.453			"Mis, O"		"AML, ALL"								T	28592705	C	T	28592705	3	4	9	1	0	0	0	0	1	0	0	0	5991	768	27	1	561	1	FLT3	13	28592705	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		28592705	86577173	43	599											
YLPM1	56252	broad.mit.edu	37	chr14	75264755	75264755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagtctcggaagggcccGtagagccctctaattgggac	9	8	14	10	2	2	2	0	1	2	1	3	4	2	4	2	3	1	1	2	3	4	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:75264755G>A	uc001xqj.4	+	4	2879	c.2755G>A	c.(2755-2757)Gta>Ata	p.V919I	YLPM1_uc001xql.4_Non-coding_Transcript	NM_019589	NP_062535	P49750	YLPM1_HUMAN	Homo sapiens YLP motif containing 1 (YLPM1), mRNA.	724	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GGAAGGGCCCGTAGAGCCCTC	0.483													A	75264755	G	A	75264755	3	1	9	1	0	0	0	0	1	0	0	0	17588	1145	40	1	2773	1	YLPM1	14	75264755	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		75264755	32084785	44	600											
SETD3	84193	broad.mit.edu	37	chr14	99866491	99866491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctatcttcaagaaatGtccaaagtttgacctcgttg	11	13	8	9	1	3	2	1	1	2	1	5	2	4	2	2	1	0	3	2	1	4	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr14:99866491G>A	uc001ygc.3	-	11	1453	c.1283C>T	c.(1282-1284)aCa>aTa	p.T428I		NM_032233	NP_115609	Q86TU7	SETD3_HUMAN	Homo sapiens SET domain containing 3 (SETD3), transcript variant 1, mRNA.	428					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity	p.W427*(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ttcaagaaatgtccaaagttt	0.373													A	99866491	G	A	99866491	3	1	9	1	0	0	0	0	1	0	0	0	14225	1377	48	2	509	2	SETD3	14	99866491	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	24601736	99866491	7483049	45	601											
HDC	3067	broad.mit.edu	37	chr15	50534686	50534686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcactggcacactgttgCaactgagggagcgcaccgtc	9	7	11	14	2	1	1	1	1	0	0	2	2	1	2	1	2	3	4	1	2	1	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr15:50534686C>A	uc001zxz.3	-	11	2102	c.1760G>T	c.(1759-1761)tGc>tTc	p.C587F	HDC_uc001zxy.3_Missense_Mutation_p.C330F|HDC_uc010uff.2_Missense_Mutation_p.C554F	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	587					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CACACTGTTGCAACTGAGGGA	0.542													A	50534686	C	A	50534686	3	1	9	1	0	0	0	0	1	0	0	0	7070	710	25	4	232	4	HDC	15	50534686	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		50534686	51996706	46	602											
NUFIP2	57532	broad.mit.edu	37	chr17	27613998	27613998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggaaaaactgggggtggTttaaatagggtccacgagtc	12	9	14	6	1	0	0	0	0	0	0	2	2	1	1	1	5	1	1	1	5	5	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:27613998T>C	uc002hdy.4	-	1	1103	c.1014A>G	c.(1012-1014)aaA>aaG	p.K338K	NUFIP2_uc002hdx.4_Intron	NM_020772	NP_065823	Q7Z417	NUFP2_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 2 (NUFIP2), mRNA.	338						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			CTGGGGGTGGTTTAAATAGGG	0.413													C	27613998	T	C	27613998	2	2	9	1	0	0	0	0	0	0	0	1	10825	1722	60	3		3	NUFIP2	17	27613998	Silent	SNP	T	TCGA-06-0119-01A-08D-1490-08		27613998	53581212	47	603											
NF1	4763	broad.mit.edu	37	chr17	29556163	29556163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaacatgactggcttcCtttgtgcccttgggggagtg	6	12	14	9	0	1	1	1	1	0	0	2	3	2	3	2	4	2	1	2	4	1	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:29556163C>T	uc002hgg.3	+	20	2913	c.2530C>T	c.(2530-2532)Ctt>Ttt	p.L844F	NF1_uc002hgh.3_Missense_Mutation_p.L844F|NF1_uc010csn.2_Missense_Mutation_p.L704F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGGCTTCCTTTGTGCCCT	0.517			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29556163	C	T	29556163	3	4	9	1	0	0	0	0	1	0	0	0	10432	681	24	2	2673	2	NF1	17	29556163	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1942165	29556163	51639047	48	604											
GAS2L2	246176	broad.mit.edu	37	chr17	34073181	34073181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgatatccctttggtggtGgcctcaatggctcggagtct	5	13	13	10	1	2	1	1	1	1	0	4	2	3	2	2	5	0	2	2	5	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:34073181G>A	uc002hjv.2	-	5	1363	c.1335C>T	c.(1333-1335)gcC>gcT	p.A445A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	445					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTTTGGTGGTGGCCTCAATGG	0.612													A	34073181	G	A	34073181	2	1	9	1	0	0	0	0	0	0	0	1	6301	1335	47	2		2	GAS2L2	17	34073181	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	4517018	34073181	47122029	49	605											
KRT28	162605	broad.mit.edu	37	chr17	38953242	38953242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggtgagctggctccgggCgaaagtggctgcgcctgagt	5	8	17	11	4	0	2	0	2	0	0	2	3	1	2	2	4	2	3	2	4	1	0	rs146193469	byFrequency	TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:38953242C>T	uc002hvh.1	-	4	970	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN	Homo sapiens keratin 28 (KRT28), mRNA.	302	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TGGCTCCGGGCGAAAGTGGCT	0.662													T	38953242	C	T	38953242	3	4	9	1	0	0	0	0	1	0	0	0	8523	768	27	1	506	1	KRT28	17	38953242	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	4880061	38953242	42241968	50	606											
MTMR4	9110	broad.mit.edu	37	chr17	56581411	56581411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagggctcagactcacCatgtctgagctgggtgtgta	10	9	14	8	0	3	2	2	1	1	1	3	3	3	3	1	3	1	3	1	3	3	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56581411C>A	uc002iwj.2	-	14	1766	c.1656_splice	c.e14+1	p.M552_splice		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	552	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCAGACTCACCATGTCTGAGC	0.483													A	56581411	C	A	56581411	3	1	9	1	0	0	0	0	1	0	0	0	10022	608	21	4	1955	4	MTMR4	17	56581411	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	17628169	56581411	24613799	51	607											
MTMR4	9110	broad.mit.edu	37	chr17	56585838	56585838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccctctcacttgtagttgCtgttgatgtgtgagactctc	7	15	9	10	0	2	2	1	2	2	1	4	3	2	2	1	0	2	4	1	0	2	4			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:56585838C>T	uc002iwj.2	-	6	652	c.542G>A	c.(541-543)aGc>aAc	p.S181N		NM_004687	NP_004678	Q9NYA4	MTMR4_HUMAN	Homo sapiens myotubularin related protein 4 (MTMR4), mRNA.	181	Myotubularin phosphatase.					cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTGTAGTTGCTGTTGATGTG	0.527													T	56585838	C	T	56585838	3	4	9	1	0	0	0	0	1	0	0	0	10022	797	28	2	3097	2	MTMR4	17	56585838	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	4427	56585838	24609372	52	608											
GH1	2688	broad.mit.edu	37	chr17	61995152	61995152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttggatgccttcctctaggtCctttaggaggtcatagacgt	7	14	11	9	1	2	1	1	0	1	1	4	3	4	3	3	4	1	0	3	4	3	6			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:61995152C>T	uc002jdj.3	-	3	486	c.424G>A	c.(424-426)Gac>Aac	p.D142N	GH1_uc002jdi.3_Missense_Mutation_p.D127N|GH1_uc002jdk.3_Missense_Mutation_p.D102N|GH1_uc002jdl.3_Intron|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Intron	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	142					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						TCCTCTAGGTCCTTTAGGAGG	0.587													T	61995152	C	T	61995152	3	4	9	1	0	0	0	0	1	0	0	0	6423	855	30	2	237	2	GH1	17	61995152	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	5409314	61995152	19200058	53	609											
ICAM2	3384	broad.mit.edu	37	chr17	62080238	62080238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgaacagggacagcaacaCcgacaccaccgtgactatga	15	3	9	14	3	0	2	0	2	0	0	0	5	0	3	3	1	3	1	3	1	3	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:62080238C>A	uc002jdu.4	-	3	929	c.697G>T	c.(697-699)Gtg>Ttg	p.V233L	C17orf72_uc002jdt.4_3'UTR|C17orf72_uc021ubo.1_3'UTR|C17orf72_uc010wpw.2_3'UTR|C17orf72_uc010wpu.2_3'UTR|C17orf72_uc010wpv.2_3'UTR|ICAM2_uc002jdw.4_Missense_Mutation_p.V233L|ICAM2_uc010ded.3_Missense_Mutation_p.V233L|ICAM2_uc002jdx.4_Missense_Mutation_p.V233L|ICAM2_uc002jdv.4_Missense_Mutation_p.V233L	NM_000873	NP_001093259	P13598	ICAM2_HUMAN	Homo sapiens intercellular adhesion molecule 2 (ICAM2), transcript variant 5, mRNA.	233					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GACAGCAACACCGACACCACC	0.612													A	62080238	C	A	62080238	3	1	9	1	0	0	0	0	1	0	0	0	7538	507	18	4	134	4	ICAM2	17	62080238	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	85086	62080238	19114972	54	610											
FADS6	283985	broad.mit.edu	37	chr17	72878745	72878745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggcaaggcagcctccaCgtgctggagtcccccaggcc	7	6	13	15	1	0	1	0	1	0	0	2	2	2	2	5	4	2	3	5	4	1	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:72878745C>T	uc002jmd.1	-	2	465	c.453G>A	c.(451-453)acG>acA	p.T151T	FADS6_uc010wrn.1_Missense_Mutation_p.R68H	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	157					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCCTCCACGTGCTGGAGT	0.602													T	72878745	C	T	72878745	2	4	9	1	0	0	0	0	0	0	0	1	5413	523	19	1		1	FADS6	17	72878745	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08	10798507	72878745	8316465	55	611											
SLC26A11	284129	broad.mit.edu	37	chr17	78195495	78195495	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcccagctactccctgCagtggctgaagatggatttc	7	10	12	12	0	0	2	0	1	0	1	2	3	1	3	2	3	4	4	2	3	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr17:78195495C>T	uc002jyb.2	+	2	442	c.136C>T	c.(136-138)Cag>Tag	p.Q46*	SGSH_uc002jxz.4_5'Flank|SGSH_uc002jya.4_5'Flank|SGSH_uc002jxy.2_5'Flank|SGSH_uc010wue.1_5'Flank|SLC26A11_uc002jyc.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc002jyd.2_Nonsense_Mutation_p.Q46*|SLC26A11_uc010dhv.2_Nonsense_Mutation_p.Q46*	NM_173626	NP_775897	Q86WA9	S2611_HUMAN	Homo sapiens solute carrier family 26, member 11 (SLC26A11), transcript variant 2, mRNA.	46						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTACTCCCTGCAGTGGCTGAA	0.687													T	78195495	C	T	78195495	4	4	9	1	0	0	0	0	0	1	0	0	14610	711	25	2	138	2	SLC26A11	17	78195495	Nonsense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	5316750	78195495	2999715	56	612											
REXO1	57455	broad.mit.edu	37	chr19	1828079	1828079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggccgagtagttggagaGagggtcatactccaggtctg	8	8	16	9	2	2	1	1	0	1	1	3	4	3	2	3	4	1	2	3	4	2	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:1828079G>A	uc002lua.4	-	1	804	c.709C>T	c.(709-711)Ctc>Ttc	p.L237F	REXO1_uc010dsr.1_Missense_Mutation_p.L191F	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	237						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TAGTTGGAGAGAGGGTCATAC	0.701													A	1828079	G	A	1828079	3	1	9	1	0	0	0	0	1	0	0	0	13329	942	33	2	3016	2	REXO1	19	1828079	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08		1828079	57300904	57	613											
ANO8	57719	broad.mit.edu	37	chr19	17436028	17436028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcagaggccttctcGgaggaggtggcagggtccag	6	7	18	10	1	1	1	0	0	1	1	3	3	2	3	3	7	0	2	3	7	0	2	rs144454643		TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:17436028G>A	uc002ngf.2	-	16	2988	c.2829C>T	c.(2827-2829)tcC>tcT	p.S943S	ANO8_uc010eap.2_Non-coding_Transcript	NM_020959	NP_066010	Q9HCE9	ANO8_HUMAN	Homo sapiens anoctamin 8 (ANO8), mRNA.	943						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AGGCCTTCTCGGAGGAGGTGG	0.692													A	17436028	G	A	17436028	2	1	9	1	0	0	0	0	0	0	0	1	703	1103	39	1		1	ANO8	19	17436028	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08	15607949	17436028	41692955	58	614											
CEACAM21	90273	broad.mit.edu	37	chr19	42083911	42083911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccatctccgtgtatacGgtgagtgattcctccgtgcc	6	12	9	14	3	2	2	1	2	1	0	5	2	4	2	5	1	2	1	5	1	2	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:42083911G>A	uc002ore.4	+	2	520	c.424_splice	c.e2+1	p.E142_splice	CEACAM21_uc002orc.1_Splice_Site|CEACAM21_uc002orf.2_Splice_Site|CEACAM21_uc002org.4_Splice_Site_p.E142_splice	NM_001098506	NP_001091976	Q3KPI0	CEA21_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 21 (CEACAM21), transcript variant 1, mRNA.	142						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						CCGTGTATACGGTGAGTGATT	0.522													A	42083911	G	A	42083911	3	1	9	1	0	0	0	0	1	0	0	0	3222	1130	39	1	430	1	CEACAM21	19	42083911	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	24647883	42083911	17045072	59	615											
NTF4	4909	broad.mit.edu	37	chr19	49564974	49564974	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgcatcgcacacagccAgctcaccccgacgactcgct	9	6	8	18	4	1	1	1	1	0	0	3	3	1	1	3	0	3	4	3	0	0	0			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:49564974A>C	uc002pmf.4	-	1	417	c.281T>G	c.(280-282)cTg>cGg	p.L94R	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.L94R	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	94					adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		GCACACAGCCAGCTCACCCCG	0.692													C	49564974	A	C	49564974	3	2	9	1	0	0	0	0	1	0	0	0	10773	188	7	5	355	5	NTF4	19	49564974	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08	7481063	49564974	9564009	60	616											
KLK6	5653	broad.mit.edu	37	chr19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctgggcgtgccaggCgcaacagcatgatgtcctgg	6	9	16	10	2	0	1	0	1	0	0	1	1	1	1	2	4	3	4	2	4	1	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:51466671C>T	uc002puh.3	-	2	424	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													T	51466671	C	T	51466671	3	4	9	1	0	0	0	0	1	0	0	0	8466	768	27	1	414	1	KLK6	19	51466671	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	1901697	51466671	7662312	61	617											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850588	58850588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgagcaccagaggatcCacacgggagagaagccttat	13	7	11	10	1	1	3	1	1	0	2	2	6	2	5	3	2	2	1	3	2	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr19:58850588C>T	uc002qsc.2	+	2	1519	c.1372C>T	c.(1372-1374)Cac>Tac	p.H458Y	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	458					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CCAGAGGATCCACACGGGAGA	0.542													T	58850588	C	T	58850588	3	4	9	1	0	0	0	0	1	0	0	0	18332	594	21	2	1378	2	ZSCAN22	19	58850588	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	7383917	58850588	278395	62	618											
SLC35C2	51006	broad.mit.edu	37	chr20	44979115	44979115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggagcagcagctccAggtcggggctggagcccagc	6	5	16	14	2	0	0	0	0	0	0	3	2	2	2	3	5	6	5	3	5	0	0			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:44979115A>G	uc010zxp.2	-	10	1196	c.1103T>C	c.(1102-1104)cTg>cCg	p.L368P	SLC35C2_uc002xro.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrp.3_Missense_Mutation_p.L318P|SLC35C2_uc002xrq.3_Missense_Mutation_p.L339P|SLC35C2_uc002xrr.3_Missense_Mutation_p.L339P|SLC35C2_uc010zxn.2_Missense_Mutation_p.L204P|SLC35C2_uc010zxo.2_Missense_Mutation_p.L225P	NM_173179	NP_775271	Q9NQQ7	S35C2_HUMAN	Homo sapiens solute carrier family 35, member C2 (SLC35C2), transcript variant 1, mRNA.	339					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CAGCAGCTCCAGGTCGGGGCT	0.617													G	44979115	A	G	44979115	3	3	9	1	0	0	0	0	1	0	0	0	14674	188	7	3	85	3	SLC35C2	20	44979115	Missense_Mutation	SNP	A	TCGA-06-0119-01A-08D-1490-08		44979115	18046405	63	619											
PTGIS	5740	broad.mit.edu	37	chr20	48129691	48129691	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggcggtcaccacgtcGcaggttgaattctcgcccgt	7	8	14	12	5	2	1	1	1	1	0	4	3	2	2	2	4	0	2	2	4	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr20:48129691G>A	uc002xut.3	-	7	1186	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PTGIS_uc010zyi.2_Nonsense_Mutation_p.R239*	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	378					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	TCACCACGTCGCAGGTTGAAT	0.612													A	48129691	G	A	48129691	4	1	9	1	0	0	0	0	0	1	0	0	12838	1095	38	1	382	1	PTGIS	20	48129691	Nonsense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	3150576	48129691	14895829	64	620											
PKDREJ	10343	broad.mit.edu	37	chr22	46657006	46657006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaagaaggaaagactgatcGatgaggtgttttcggagatt	13	10	15	3	2	0	5	0	2	0	3	2	9	0	7	0	4	0	1	0	4	3	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chr22:46657006G>A	uc003bhh.3	-	0	2214	c.2214C>T	c.(2212-2214)atC>atT	p.I738I		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	738	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		AAGACTGATCGATGAGGTGTT	0.408													A	46657006	G	A	46657006	2	1	9	1	0	0	0	0	0	0	0	1	12047	1048	37	1		1	PKDREJ	22	46657006	Silent	SNP	G	TCGA-06-0119-01A-08D-1490-08		46657006	4647560	65	621											
ARSE	415	broad.mit.edu	37	chrX	2867744	2867744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatcactggctgactcaCagttgagacccagatgccat	12	9	9	11	0	2	4	2	3	0	2	2	5	2	4	2	1	1	2	2	1	1	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:2867744C>G	uc011mhh.2	-	6	991	c.530G>C	c.(529-531)tGt>tCt	p.C177S	ARSE_uc011mhi.2_Missense_Mutation_p.C98S|ARSE_uc004crc.4_Missense_Mutation_p.C152S			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	152					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding	p.S176F(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCTGACTCACAGTTGAGACC	0.483													G	2867744	C	G	2867744	3	3	9	1	0	0	0	0	1	0	0	0	995	478	17	4	1338	4	ARSE	23	2867744	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08		2867744	152402816	66	622											
MXRA5	25878	broad.mit.edu	37	chrX	3235366	3235366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggccacgcactcatagCgcccgctgtccttgggcgcg	4	7	14	16	6	1	0	1	0	0	0	2	0	2	0	3	3	1	2	3	3	1	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:3235366C>T	uc004crg.4	-	5	6513	c.6356G>A	c.(6355-6357)cGc>cAc	p.R2119H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2119	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACTCATAGCGCCCGCTGTC	0.662													T	3235366	C	T	3235366	3	4	9	1	0	0	0	0	1	0	0	0	10079	768	27	1	2138	1	MXRA5	23	3235366	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	367622	3235366	152035194	67	623											
MAGEB1	4112	broad.mit.edu	37	chrX	30269233	30269233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctctcctgggtgtgaTcttcttaaagggcaactctg	7	13	11	10	0	4	1	0	1	4	0	5	2	4	1	2	2	2	1	2	2	3	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:30269233T>C	uc022buh.1	+	0	623	c.623T>C	c.(622-624)aTc>aCc	p.I208T	MAGEB1_uc004dcc.3_Missense_Mutation_p.I208T|MAGEB1_uc004dcd.3_Missense_Mutation_p.I208T|MAGEB1_uc004dce.3_Missense_Mutation_p.I208T	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	208	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CTGGGTGTGATCTTCTTAAAG	0.488													C	30269233	T	C	30269233	3	2	9	1	0	0	0	0	1	0	0	0	9247	1435	50	3	625	3	MAGEB1	23	30269233	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	27033867	30269233	125001327	68	624											
FAM47A	158724	broad.mit.edu	37	chrX	34148878	34148878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgagtcttgggaggctcCgagcggagactggacgtccg	7	6	17	11	6	1	1	0	0	1	1	3	7	3	3	2	4	1	1	2	4	0	1			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:34148878C>T	uc004ddg.3	-	0	1570	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	506			Missing.					p.R505H(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TGGGAGGCTCCGAGCGGAGAC	0.652													T	34148878	C	T	34148878	2	4	9	1	0	0	0	0	0	0	0	1	5620	639	23	1		1	FAM47A	23	34148878	Silent	SNP	C	TCGA-06-0119-01A-08D-1490-08	3879645	34148878	121121682	69	625											
PHF16	9767	broad.mit.edu	37	chrX	46884151	46884151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctgagaaggtaaaggacGttctgtttatccgaccccgg	10	10	12	9	3	1	1	0	1	1	1	2	4	2	2	3	3	1	4	3	3	5	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:46884151G>A	uc004dgx.3	+	4	361	c.310G>A	c.(310-312)Gtt>Att	p.V104I	PHF16_uc004dgy.3_Missense_Mutation_p.V104I	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	104					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						GGTAAAGGACGTTCTGTTTAT	0.448													A	46884151	G	A	46884151	3	1	9	1	0	0	0	0	1	0	0	0	11904	1145	40	1	324	1	PHF16	23	46884151	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	12735273	46884151	108386409	70	626											
RBM10	8241	broad.mit.edu	37	chrX	47041361	47041361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccctagctgttcccgacGtctctacctaccagtacgat	8	10	6	17	3	1	0	0	0	1	0	3	2	2	0	5	0	4	3	5	0	4	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:47041361G>A	uc004dhi.3	+	15	2129	c.1900G>A	c.(1900-1902)Gtc>Atc	p.V634I	RBM10_uc004dhf.3_Missense_Mutation_p.V569I|RBM10_uc004dhh.3_Missense_Mutation_p.V568I|RBM10_uc010nhq.3_Missense_Mutation_p.V492I|RBM10_uc004dhg.3_Missense_Mutation_p.V491I	NM_001204468	NP_001191397	P98175	RBM10_HUMAN	Homo sapiens RNA binding motif protein 10 (RBM10), transcript variant 5, mRNA.	569					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TGTTCCCGACGTCTCTACCTA	0.577													A	47041361	G	A	47041361	3	1	9	1	0	0	0	0	1	0	0	0	13199	1145	40	1	1763	1	RBM10	23	47041361	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	157210	47041361	108229199	71	627											
ARL13A	392509	broad.mit.edu	37	chrX	100240808	100240808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccatgggcttgttttcGtcctggattccagtgacata	7	13	11	10	1	0	1	0	1	0	0	3	2	2	2	3	3	0	2	3	3	1	5			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100240808G>A	uc004ego.3	+	3	399	c.283G>A	c.(283-285)Gtc>Atc	p.V95I	ARL13A_uc011mrf.2_Missense_Mutation_p.V95I|ARL13A_uc010nng.3_Missense_Mutation_p.V95I	NM_001012990	NP_001013008	Q5H913	AR13A_HUMAN	Homo sapiens ADP-ribosylation factor-like 13A (ARL13A), transcript variant 2, mRNA.	95							GTP binding			endometrium(1)|ovary(1)	2						GCTTGTTTTCGTCCTGGATTC	0.468													A	100240808	G	A	100240808	3	1	9	1	0	0	0	0	1	0	0	0	931	1145	40	1	293	1	ARL13A	23	100240808	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	53199447	100240808	55029752	72	628											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667805	100667805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtctgatcatagatacGgagatggtgggtccagtttc	10	12	13	6	1	2	3	1	1	1	2	4	5	3	3	1	3	1	1	1	3	3	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:100667805G>A	uc022cai.1	+	0	829	c.829G>A	c.(829-831)Gga>Aga	p.G277R	RPL36A-HNRNPH2_uc022cag.1_3'UTR|RPL36A-HNRNPH2_uc022cah.1_3'UTR|HNRNPH2_uc004ehm.3_Missense_Mutation_p.G277R|HNRNPH2_uc004ehn.3_Missense_Mutation_p.G277R	NM_019597	NP_062543	P55795	HNRH2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H2 (H') (HNRNPH2), transcript variant 1, mRNA.	277	2 X 16 AA Gly-rich approximate repeats.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						TCATAGATACGGAGATGGTGG	0.428													A	100667805	G	A	100667805	3	1	9	1	0	0	0	0	1	0	0	0	7322	1117	39	1	831	1	HNRNPH2	23	100667805	Missense_Mutation	SNP	G	TCGA-06-0119-01A-08D-1490-08	426997	100667805	54602755	73	629											
SLC6A14	11254	broad.mit.edu	37	chrX	115586616	115586616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttgctggtttgtaattaCgcctatccttttgattgtaa	8	18	8	7	1	0	1	0	1	0	0	1	1	1	1	2	1	3	5	2	1	4	9			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:115586616C>T	uc004eqi.3	+	11	1729	c.1598C>T	c.(1597-1599)aCg>aTg	p.T533M		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	533					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T533M(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTGTAATTACGCCTATCCTT	0.348													T	115586616	C	T	115586616	3	4	9	1	0	0	0	0	1	0	0	0	14771	536	19	1	1644	1	SLC6A14	23	115586616	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	14918811	115586616	39683944	74	630											
RHOXF1	158800	broad.mit.edu	37	chrX	119249400	119249400	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacatcagggtattgagTgtgtcggaaaacactttcca	11	10	12	8	1	1	1	1	1	0	0	3	2	2	2	1	3	1	2	1	3	3	3			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:119249400T>A	uc004esk.1	-	0	448	c.373A>T	c.(373-375)Act>Tct	p.T125S	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	125					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GGGTATTGAGTGTGTCGGAAA	0.577													A	119249400	T	A	119249400	3	1	9	1	0	0	0	0	1	0	0	0	13436	1696	59	5	193	5	RHOXF1	23	119249400	Missense_Mutation	SNP	T	TCGA-06-0119-01A-08D-1490-08	3662784	119249400	36021160	75	631											
IRAK1	3654	broad.mit.edu	37	chrX	153283486	153283486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacggtcctccagggagcCgttgggcaggaagccgtaca	9	5	16	11	3	0	1	0	0	0	1	2	4	2	3	4	4	3	3	4	4	2	2			TCGA-06-0119-01A-08D-1490-08	TCGA-06-0119-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cda6181-c62b-4ced-a543-d6138fd2e94a	8fc02285-7cee-43ed-8656-279e597967ba	g.chrX:153283486C>T	uc004fjs.1	-	6	959	c.880G>A	c.(880-882)Ggc>Agc	p.G294S	IRAK1_uc004fjr.1_Missense_Mutation_p.G294S|IRAK1_uc004fjt.1_Missense_Mutation_p.G294S|IRAK1_uc004fju.2_Missense_Mutation_p.G320S	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	294	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGGAGCCGTTGGGCAGG	0.612													T	153283486	C	T	153283486	3	4	9	1	0	0	0	0	1	0	0	0	7879	652	23	1	1290	1	IRAK1	23	153283486	Missense_Mutation	SNP	C	TCGA-06-0119-01A-08D-1490-08	34034086	153283486	1987074	76	632											
MTOR	2475	broad.mit.edu	37	chr1	11174395	11174395	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatcagcctccagttcAgcaaggggtcatagacaaag	12	8	10	11	0	3	1	3	0	0	1	5	1	5	1	3	2	2	2	3	2	3	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:11174395A>T	uc001asd.3	-	52	7401	c.7280T>A	c.(7279-7281)cTg>cAg	p.L2427Q	MTOR_uc001asc.3_Missense_Mutation_p.L632Q	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	2427	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCTCCAGTTCAGCAAGGGGTC	0.537													T	11174395	A	T	11174395	3	4	10	1	0	0	0	0	1	0	0	0	10030	188	7	5	393	5	MTOR	1	11174395	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		11174395	238076226	1	633											
UBR4	23352	broad.mit.edu	37	chr1	19492180	19492180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaactcctccatagctttaCgagcctggctactttccagc	10	11	6	14	1	0	0	0	0	0	0	3	1	3	0	4	1	6	2	4	1	5	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:19492180C>T	uc001bbi.3	-	29	4185	c.4181G>A	c.(4180-4182)cGt>cAt	p.R1394H	UBR4_uc001bbm.1_Missense_Mutation_p.R605H	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1394			R -> H (in a breast cancer sample; somatic mutation).		interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding	p.R1394H(4)|p.R1394C(1)		breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CATAGCTTTACGAGCCTGGCT	0.433													T	19492180	C	T	19492180	3	4	10	1	0	0	0	0	1	0	0	0	17006	536	19	1	11678	1	UBR4	1	19492180	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	8317785	19492180	229758441	2	634											
EYA3	2140	broad.mit.edu	37	chr1	28362074	28362074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaaggaggtagtccataCgtttgggttgcctgagggta	10	10	14	7	1	0	1	0	1	0	0	1	2	1	2	3	4	2	4	3	4	5	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:28362074C>T	uc001bpi.2	-	5	524	c.342G>A	c.(340-342)acG>acA	p.T114T	EYA3_uc010ofs.2_Silent_p.T61T|EYA3_uc010oft.2_Silent_p.T114T|EYA3_uc001bpj.3_Silent_p.T114T|EYA3_uc001bpk.2_Non-coding_Transcript|EYA3_uc010ofu.2_Non-coding_Transcript	NM_001990	NP_001981	Q99504	EYA3_HUMAN	Homo sapiens eyes absent homolog 3 (Drosophila) (EYA3), mRNA.	114					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		GTAGTCCATACGTTTGGGTTG	0.428													T	28362074	C	T	28362074	2	4	10	1	0	0	0	0	0	0	0	1	5372	523	19	1		1	EYA3	1	28362074	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	8869894	28362074	220888547	3	635											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960310	33960310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccagagaattcacaCgggggaaaagccctataaat	16	6	8	11	1	2	1	2	0	0	1	2	3	2	2	2	2	1	0	2	2	6	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:33960310C>T	uc001bxj.4	+	7	2533	c.2366C>T	c.(2365-2367)aCg>aTg	p.T789M	ZSCAN20_uc009vui.3_Missense_Mutation_p.T788M	NM_145238	NP_660281	P17040	ZSC20_HUMAN	Homo sapiens zinc finger and SCAN domain containing 20 (ZSCAN20), mRNA.	789					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				AGAATTCACACGGGGGAAAAG	0.438													T	33960310	C	T	33960310	3	4	10	1	0	0	0	0	1	0	0	0	18330	536	19	1	2392	1	ZSCAN20	1	33960310	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	5598236	33960310	215290311	4	636											
EPHA10	284656	broad.mit.edu	37	chr1	38227491	38227491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattttgcggggccggctgcCgcctaggcggggacgcccac	4	6	17	14	5	0	0	0	0	0	0	0	2	0	1	4	6	2	1	4	6	1	3	rs146430998		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:38227491C>T	uc009vvi.3	-	2	522	c.436G>A	c.(436-438)Ggc>Agc	p.G146S	EPHA10_uc001cbw.4_Missense_Mutation_p.G146S	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	146						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCCGGCTGCCGCCTAGGCGG	0.662													T	38227491	C	T	38227491	3	4	10	1	0	0	0	0	1	0	0	0	5207	652	23	1	2688	1	EPHA10	1	38227491	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	4267181	38227491	211023130	5	637											
SGIP1	84251	broad.mit.edu	37	chr1	67194966	67194966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatcgttaagattaccGgagaaatggtgttgtcattt	11	15	11	4	2	1	2	1	0	0	2	2	4	1	2	1	2	1	3	1	2	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:67194966G>A	uc001dcr.3	+	19	1979	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	SGIP1_uc010opd.2_Missense_Mutation_p.G188R|SGIP1_uc001dcs.3_Missense_Mutation_p.G188R|SGIP1_uc001dct.3_Missense_Mutation_p.G190R|SGIP1_uc009wat.3_Missense_Mutation_p.G382R|SGIP1_uc001dcu.3_Missense_Mutation_p.G93R	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	588					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						TAAGATTACCGGAGAAATGGT	0.423													A	67194966	G	A	67194966	3	1	10	1	0	0	0	0	1	0	0	0	14299	1117	39	1	1840	1	SGIP1	1	67194966	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	28967475	67194966	182055655	6	638											
SPAG17	200162	broad.mit.edu	37	chr1	118548038	118548038	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaaggtgcactttaccTgaaaagtgtttccctcagga	12	11	8	10	0	1	1	1	1	0	0	2	2	2	2	3	2	3	2	3	2	5	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:118548038T>G	uc001ehk.2	-	32	4844	c.4776_splice	c.e32+1	p.Q1592_splice	SPAG17_uc021osr.1_Splice_Site_p.Q102_splice	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1592						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GCACTTTACCTGAAAAGTGTT	0.448													G	118548038	T	G	118548038	3	3	10	1	0	0	0	0	1	0	0	0	15075	1594	55	5	1964	5	SPAG17	1	118548038	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08	51353072	118548038	130702583	7	639											
APH1A	51107	broad.mit.edu	37	chr1	150239482	150239482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccaactcaccagtcccGatgtcagtaggtgactccca	9	9	8	15	1	3	1	2	1	1	0	6	2	5	1	4	1	1	1	4	1	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:150239482G>A	uc001ety.2	-	4	1001	c.602C>T	c.(601-603)tCg>tTg	p.S201L	APH1A_uc001etz.2_Missense_Mutation_p.S201L|APH1A_uc010pbx.2_Missense_Mutation_p.S131L|APH1A_uc010pby.2_Missense_Mutation_p.S144L|APH1A_uc010pbz.2_Missense_Mutation_p.S85L	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	201					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAGTCCCGATGTCAGTAG	0.507													A	150239482	G	A	150239482	3	1	10	1	0	0	0	0	1	0	0	0	773	1059	37	1	218	1	APH1A	1	150239482	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	31691444	150239482	99011139	8	640											
FLG2	388698	broad.mit.edu	37	chr1	152325713	152325713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgagtgtgtcctgaatGtgtgtgcgagccccctgagt	5	11	15	10	2	0	3	0	3	0	0	1	4	1	3	4	0	2	0	4	0	1	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:152325713G>A	uc001ezw.4	-	2	4622	c.4549C>T	c.(4549-4551)Cat>Tat	p.H1517Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1517							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAATGTGTGTGCGAG	0.498													A	152325713	G	A	152325713	3	1	10	1	0	0	0	0	1	0	0	0	5972	1377	48	2	2630	2	FLG2	1	152325713	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	2086231	152325713	96924908	9	641											
PPOX	5498	broad.mit.edu	37	chr1	161138221	161138221	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcctagtctcacccttaaGgtggcgtctctagccatgga	8	11	10	12	1	2	0	1	0	2	0	5	1	3	1	3	3	1	0	3	3	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:161138221G>T	uc001fyj.2	+	6	762	c.472_splice	c.e6-1	p.V158_splice	PPOX_uc001fyg.2_Splice_Site_p.V158_splice|PPOX_uc010pkg.1_5'UTR|PPOX_uc001fyi.2_5'UTR|PPOX_uc010pkh.1_Intron	NM_001122764	NP_001116236	P50336	PPOX_HUMAN	Homo sapiens protoporphyrinogen oxidase (PPOX), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	158					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			TCACCCTTAAGGTGGCGTCTC	0.522													T	161138221	G	T	161138221	5	4	10	1	0	0	0	0	0	0	1	0	12430	1014	35	4	489	4	PPOX	1	161138221	Splice_Site	SNP	G	TCGA-06-0122-01A-01D-1490-08	8812508	161138221	88112400	10	642											
HMCN1	83872	broad.mit.edu	37	chr1	186092143	186092143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtggacaagcccatcaCgttatcctgtgaagcagatg	10	10	11	10	1	1	2	1	1	0	1	2	3	2	3	2	1	3	3	2	1	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:186092143C>T	uc001grq.1	+	80	12519	c.12290C>T	c.(12289-12291)aCg>aTg	p.T4097M	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4097	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.T4097M(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGCCCATCACGTTATCCTGT	0.433													T	186092143	C	T	186092143	3	4	10	1	0	0	0	0	1	0	0	0	7275	536	19	1	12612	1	HMCN1	1	186092143	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	24953922	186092143	63158478	11	643											
RYR2	6262	broad.mit.edu	37	chr1	237811774	237811774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggaacctgacatgtctgCggggttttgcccagatcaca	8	10	13	10	1	2	2	1	1	1	1	2	3	2	3	2	4	3	1	2	4	1	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr1:237811774C>T	uc001hyl.1	+	48	7493	c.7373C>T	c.(7372-7374)gCg>gTg	p.A2458V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2458	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G2457E(2)|p.A2456V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGTCTGCGGGGTTTTGC	0.458													T	237811774	C	T	237811774	3	4	10	1	0	0	0	0	1	0	0	0	13860	768	27	1	7567	1	RYR2	1	237811774	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	51719631	237811774	11438847	12	644											
PRKD3	23683	broad.mit.edu	37	chr2	37516578	37516578	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctggtaaagatacatttGacagacgtctctttcttact	10	15	7	9	1	2	3	0	1	2	2	4	3	3	3	1	1	2	1	1	1	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:37516578G>C	uc002rqd.3	-	3	1193	c.638C>G	c.(637-639)tCa>tGa	p.S213*	PRKD3_uc002rqf.1_Nonsense_Mutation_p.S213*	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	213					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				AGATACATTTGACAGACGTCT	0.413													C	37516578	G	C	37516578	4	2	10	1	0	0	0	0	0	1	0	0	12606	1294	45	4	2094	4	PRKD3	2	37516578	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		37516578	205682795	13	645											
PCDP1	200373	broad.mit.edu	37	chr2	120369295	120369295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagaagttagccataaaCgggttgttcgcaatcaagaa	17	8	9	7	2	1	2	1	0	0	2	2	2	1	2	1	1	3	4	1	1	8	4	rs149304410		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:120369295C>T	uc002tmb.3	+	13	1542	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	PCDP1_uc010yyq.2_Missense_Mutation_p.R274W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	430						cilium	calmodulin binding					Colorectal(110;0.196)					TAGCCATAAACGGGTTGTTCG	0.333													T	120369295	C	T	120369295	3	4	10	1	0	0	0	0	1	0	0	0	11648	527	19	1	448	1	PCDP1	2	120369295	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	82852717	120369295	122830078	14	646											
LRP1B	53353	broad.mit.edu	37	chr2	141072506	141072506	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacaatgaaatatttacctAgaactgatggtacgcaagtt	15	12	8	6	1	0	4	0	3	0	1	0	4	0	4	1	1	3	3	1	1	8	6			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:141072506A>G	uc002tvj.1	-	82	13775	c.12803T>C	c.(12802-12804)cTa>cCa	p.L4268P		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATATTTACCTAGAACTGATGG	0.353										TSP Lung(27;0.18)			G	141072506	A	G	141072506	3	3	10	1	0	0	0	0	1	0	0	0	9025	420	15	3	1032	3	LRP1B	2	141072506	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	20703211	141072506	102126867	15	647											
COBLL1	22837	broad.mit.edu	37	chr2	165578701	165578701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgggggcagtggagcccGcctcttcttgggtgcatccg	4	9	15	13	3	2	0	0	0	2	0	4	1	3	1	3	4	2	2	3	4	0	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:165578701G>A	uc002ucp.3	-	5	1102	c.880C>T	c.(880-882)Cgg>Tgg	p.R294W	COBLL1_uc002ucq.3_Missense_Mutation_p.R294W|COBLL1_uc010zcw.2_Missense_Mutation_p.R360W|COBLL1_uc010zcx.2_Missense_Mutation_p.R340W|COBLL1_uc002ucs.1_Non-coding_Transcript|COBLL1_uc002uco.3_Missense_Mutation_p.R63W	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	332								p.R294L(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGTGGAGCCCGCCTCTTCTTG	0.522													A	165578701	G	A	165578701	3	1	10	1	0	0	0	0	1	0	0	0	3685	1086	38	1	2656	1	COBLL1	2	165578701	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	24506195	165578701	77620672	16	648											
SCN1A	6323	broad.mit.edu	37	chr2	166850847	166850847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccatcattgtgaccatgTtaagacagatgagaatcatg	14	10	8	9	0	2	4	2	2	0	3	2	5	2	4	3	0	0	1	3	0	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:166850847T>C	uc002udo.4	-	26	4888	c.4661A>G	c.(4660-4662)aAc>aGc	p.N1554S	SCN1A_uc010fpk.3_Missense_Mutation_p.N1526S|SCN1A_uc021vsb.1_Missense_Mutation_p.N1543S	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1554						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TGTGACCATGTTAAGACAGAT	0.378													C	166850847	T	C	166850847	3	2	10	1	0	0	0	0	1	0	0	0	14007	1725	60	3	1376	3	SCN1A	2	166850847	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08	1272146	166850847	76348526	17	649											
TTN	7273	broad.mit.edu	37	chr2	179476875	179476875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccactgccagggcgtaggGtggtccaggagtggctgaaa	10	6	16	9	1	0	1	0	1	0	0	1	2	1	2	3	5	2	2	3	5	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179476875G>C	uc021vsy.1	-	215	42784	c.42559C>G	c.(42559-42561)Ccc>Gcc	p.P14187A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P7882A|TTN_uc021vta.1_Missense_Mutation_p.P7815A|TTN_uc021vtb.1_Missense_Mutation_p.P7690A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15114	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGGCGTAGGGTGGTCCAGGA	0.418													C	179476875	G	C	179476875	3	2	10	1	0	0	0	0	1	0	0	0	16837	1261	44	4	57814	4	TTN	2	179476875	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	12626028	179476875	63722498	18	650											
TTN	7273	broad.mit.edu	37	chr2	179597777	179597777	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcaattttgcagtccaGtctgcaggtaccattaacaa	11	11	8	11	0	1	0	0	0	1	0	2	0	2	0	3	1	5	4	3	1	4	4	rs72648936		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179597777G>A	uc021vsy.1	-	51	12619	c.12394C>T	c.(12394-12396)Ctg>Ttg	p.L4132L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.L793L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5059							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R4131I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCAGTCCAGTCTGCAGGTA	0.468													A	179597777	G	A	179597777	2	1	10	1	0	0	0	0	0	0	0	1	16837	1020	36	2		2	TTN	2	179597777	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	120902	179597777	63601596	19	651											
TTN	7273	broad.mit.edu	37	chr2	179599243	179599243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagctaatttcaaatGgtccagtgcctgagacttca	12	11	8	10	0	2	2	2	2	0	1	3	3	3	2	3	1	3	1	3	1	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:179599243G>A	uc021vsy.1	-	48	11801	c.11576C>T	c.(11575-11577)cCa>cTa	p.P3859L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P520L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4786							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTCAAATGGTCCAGTGCC	0.393													A	179599243	G	A	179599243	3	1	10	1	0	0	0	0	1	0	0	0	16837	1348	47	2	89465	2	TTN	2	179599243	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	1466	179599243	63600130	20	652											
IHH	3549	broad.mit.edu	37	chr2	219920562	219920562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccggcagggaagcagccGcccgtcttggctgcggccga	5	5	16	15	5	1	0	0	0	1	0	2	2	2	1	4	4	3	4	4	4	1	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:219920562G>A	uc002vjo.2	-	2	652	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	201					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAAGCAGCCGCCCGTCTTGG	0.672													A	219920562	G	A	219920562	2	1	10	1	0	0	0	0	0	0	0	1	7665	1074	38	1		1	IHH	2	219920562	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	40321319	219920562	23278811	21	653											
GIGYF2	26058	broad.mit.edu	37	chr2	233710565	233710565	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgtgaacagatgctTcatgcccttaatacggcaaa	12	10	10	9	1	1	2	1	1	0	1	1	2	1	2	1	2	4	2	1	2	4	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:233710565T>C	uc002vtj.4	+	27	3759	c.3492T>C	c.(3490-3492)ctT>ctC	p.L1164L	GIGYF2_uc002vti.4_Silent_p.L1143L|GIGYF2_uc002vtk.4_Silent_p.L1143L|GIGYF2_uc002vth.4_Silent_p.L1137L|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc002vtq.4_Silent_p.L476L	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	1143					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AACAGATGCTTCATGCCCTTA	0.453													C	233710565	T	C	233710565	2	2	10	1	0	0	0	0	0	0	0	1	6434	1770	62	3		3	GIGYF2	2	233710565	Silent	SNP	T	TCGA-06-0122-01A-01D-1490-08	13790003	233710565	9488808	22	654											
UGT1A1	54578	broad.mit.edu	37	chr2	234602272	234602272	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacatgactttttcccaaCgagtggccaacttccttgtt	9	13	6	13	1	0	1	0	1	0	0	2	2	2	1	4	1	2	1	4	1	2	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr2:234602272C>T	uc002vuv.4	+	0	761	c.622C>T	c.(622-624)Cga>Tga	p.R208*	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Nonsense_Mutation_p.R208*	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	209					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTTTTCCCAACGAGTGGCCAA	0.448													T	234602272	C	T	234602272	4	4	10	1	0	0	0	0	0	1	0	0	17046	528	19	1		1	UGT1A1	2	234602272	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	891707	234602272	8597101	23	655											
OR5K3	403277	broad.mit.edu	37	chr3	98109856	98109856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagactgctttcttctggCggcaatggcctatgactgct	7	13	10	11	1	2	2	0	1	2	1	2	2	2	2	1	3	3	3	1	3	3	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:98109856C>T	uc011bgw.2	+	0	347	c.347C>T	c.(346-348)gCg>gTg	p.A116V		NM_001005516	NP_001005516	A6NET4	OR5K3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 3 (OR5K3), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TTTCTTCTGGCGGCAATGGCC	0.453													T	98109856	C	T	98109856	3	4	10	1	0	0	0	0	1	0	0	0	11244	768	27	1	349	1	OR5K3	3	98109856	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		98109856	99912574	24	656											
RTP1	132112	broad.mit.edu	37	chr3	186917654	186917654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgaggcctgccaggaGggcatcgtgcactggaagcc	7	7	15	12	2	1	0	0	0	1	0	2	3	1	2	3	4	4	2	3	4	1	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr3:186917654G>A	uc003frg.3	+	1	618	c.588G>A	c.(586-588)gaG>gaA	p.E196E		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	196					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CCTGCCAGGAGGGCATCGTGC	0.692													A	186917654	G	A	186917654	2	1	10	1	0	0	0	0	0	0	0	1	13824	991	35	2		2	RTP1	3	186917654	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	88807798	186917654	11104776	25	657											
ADAMTS16	170690	broad.mit.edu	37	chr5	5262831	5262831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagtaaatatgtccttCtgcaatcccaagacacgacc	13	11	5	12	1	2	1	1	0	1	1	4	2	4	1	3	0	1	2	3	0	6	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:5262831C>A	uc003jdl.3	+	17	2862	c.2724C>A	c.(2722-2724)ttC>ttA	p.F908L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.F908L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	908	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATATGTCCTTCTGCAATCCCA	0.498													A	5262831	C	A	5262831	3	1	10	1	0	0	0	0	1	0	0	0	261	912	32	4	2794	4	ADAMTS16	5	5262831	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		5262831	175652429	26	658											
PAPD7	11044	broad.mit.edu	37	chr5	6737716	6737717	+	Frame_Shift_Del	DEL	TG	TG	-																															gtggtgaaacggatcgaaacTgtggtgaaagacctttggcc																										TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:6737716_6737717delTG	uc003jdx.1	+	1	189_190	c.60_61delTG	c.(58-63)actgtgfs	p.T20fs	PAPD7_uc011cmn.2_Frame_Shift_Del_p.T20fs	NM_006999	NP_001165277	Q5XG87	PAPD7_HUMAN	Homo sapiens PAP associated domain containing 7 (PAPD7), transcript variant 1, mRNA.	20					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding	p.E19K(1)		cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						GGATCGAAACTGTGGTGAAAGA	0.436													-	6737717	TG	-	6737716	7	5	10	1	0	1	0	1	0	0	0	0	11502	1567	55	0	62	0	PAPD7	5	6737716	Frame_Shift_Del	DEL	TG	TCGA-06-0122-01A-01D-1490-08	1474885	6737716	174177544	27	659											
NIPBL	25836	broad.mit.edu	37	chr5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-																															gaacctgctatgcggaacaaGgctgatcagcaacttgtgga																										TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:37051937delG	uc003jkl.4	+	40	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_uc003jkk.4_Frame_Shift_Del_p.K2337fs|NIPBL_uc003jkn.3_Frame_Shift_Del_p.K30fs	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2337					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318													-	37051937	G	-	37051937	7	5	10	1	0	1	0	1	0	0	0	0	10504	991	35	0	7169	0	NIPBL	5	37051937	Frame_Shift_Del	DEL	G	TCGA-06-0122-01A-01D-1490-08	30314221	37051937	143863323	28	660											
HCN1	348980	broad.mit.edu	37	chr5	45462085	45462085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctcaccactgcactggCgagatcatatgtcatgtgga	11	11	9	10	1	3	1	3	0	1	1	4	3	3	2	1	2	1	1	1	2	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:45462085C>G	uc003jok.3	-	2	899	c.874G>C	c.(874-876)Gcc>Ccc	p.A292P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	292						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A292A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACTGCACTGGCGAGATCATAT	0.378													G	45462085	C	G	45462085	3	3	10	1	0	0	0	0	1	0	0	0	7051	768	27	4	1822	4	HCN1	5	45462085	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	8410148	45462085	135453175	29	661											
PCDHB4	56131	broad.mit.edu	37	chr5	140502131	140502131	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattctcactcgaaatcAtagtgagggcaagaaatacc	15	9	7	10	1	3	2	3	1	1	1	5	3	3	2	1	1	1	1	1	1	5	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr5:140502131A>T	uc003lip.1	+	0	551	c.551A>T	c.(550-552)cAt>cTt	p.H184L		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	184	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTCGAAATCATAGTGAGGGC	0.478													T	140502131	A	T	140502131	3	4	10	1	0	0	0	0	1	0	0	0	11620	217	8	5	553	5	PCDHB4	5	140502131	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	95040046	140502131	40413129	30	662											
EZR	7430	broad.mit.edu	37	chr6	159206603	159206603	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggattctccttcctgacctCctgggcagacacctgcacga	7	9	10	15	1	1	2	0	1	1	1	4	4	3	3	5	2	1	2	5	2	0	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr6:159206603C>A	uc003qrt.4	-	3	420	c.205G>T	c.(205-207)Gag>Tag	p.E69*	EZR_uc011efs.2_Nonsense_Mutation_p.E37*|EZR_uc003qru.4_Nonsense_Mutation_p.E69*	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	69	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGACCTCCTGGGCAGAC	0.537			T	ROS1	NSCLC								A	159206603	C	A	159206603	4	1	10	1	0	0	0	0	0	1	0	0	5377	864	30	4	1595	4	EZR	6	159206603	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		159206603	11908464	31	663											
VOPP1	81552	broad.mit.edu	37	chr7	55588786	55588786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tataataggttggatagagtCcttcgaaataccagcaatgc	14	11	9	7	1	0	1	0	0	0	1	2	3	1	2	2	2	3	2	2	2	7	7			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:55588786C>T	uc003tqs.3	-	1	275	c.92G>A	c.(91-93)gGa>gAa	p.G31E	VOPP1_uc003tqq.3_Missense_Mutation_p.G22E|VOPP1_uc010kzh.3_Missense_Mutation_p.G28E|VOPP1_uc010kzi.3_Missense_Mutation_p.G14E|VOPP1_uc011kcr.2_5'UTR	NM_030796	NP_110423	Q96AW1	VOPP1_HUMAN	Homo sapiens vesicular, overexpressed in cancer, prosurvival protein 1 (VOPP1), mRNA.	31					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic vesicle membrane|endosome|integral to organelle membrane	signal transducer activity			endometrium(1)|lung(4)	5						TGGATAGAGTCCTTCGAAATA	0.408													T	55588786	C	T	55588786	3	4	10	1	0	0	0	0	1	0	0	0	17286	855	30	2	442	2	VOPP1	7	55588786	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		55588786	103549877	32	664											
PCLO	27445	broad.mit.edu	37	chr7	82390725	82390725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaatatttctgcattggAgaatttcaactattagttgt	12	18	7	4	0	2	1	1	0	1	1	2	2	2	1	0	1	2	3	0	1	6	8			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82390725A>G	uc003uhx.2	-	22	15381	c.15092T>C	c.(15091-15093)cTc>cCc	p.L5031P		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4954	C2 2.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGCATTGGAGAATTTCAAC	0.308													G	82390725	A	G	82390725	3	3	10	1	0	0	0	0	1	0	0	0	11659	304	11	3	348	3	PCLO	7	82390725	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	26801939	82390725	76747938	33	665											
PCLO	27445	broad.mit.edu	37	chr7	82586181	82586181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcggaagaatatcccGtgtcgctcagaccttggggg	8	10	12	11	3	1	2	1	0	0	2	5	3	3	3	3	3	0	1	3	3	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:82586181G>A	uc003uhx.2	-	4	4377	c.4088C>T	c.(4087-4089)aCg>aTg	p.T1363M	PCLO_uc003uhv.2_Missense_Mutation_p.T1363M	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1294					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T1363M(3)|p.T1294M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGAATATCCCGTGTCGCTCAG	0.428													A	82586181	G	A	82586181	3	1	10	1	0	0	0	0	1	0	0	0	11659	1145	40	1	11441	1	PCLO	7	82586181	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	195456	82586181	76552482	34	666											
TFEC	22797	broad.mit.edu	37	chr7	115614228	115614228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgaaagcacttactgttCtttgcattagcagaggagag	11	12	11	7	0	2	3	0	1	2	2	2	4	2	3	0	1	4	4	0	1	3	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:115614228C>T	uc003vhj.2	-	2	516	c.263G>A	c.(262-264)aGa>aAa	p.R88K	TFEC_uc003vhk.2_Intron|TFEC_uc003vhl.4_Intron|TFEC_uc011kmw.2_Missense_Mutation_p.R178K	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	88	Necessary for transcriptional transactivation.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTTACTGTTCTTTGCATTAG	0.358													T	115614228	C	T	115614228	3	4	10	1	0	0	0	0	1	0	0	0	15902	913	32	2	804	2	TFEC	7	115614228	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	33028047	115614228	43524435	35	667											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259316	147259316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctgatggcagcggacctCtggggcctctgaaagtttac	8	10	12	11	1	2	2	0	2	2	0	3	3	3	3	3	4	2	2	3	4	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr7:147259316C>T	uc003weu.2	+	11	2380	c.1864C>T	c.(1864-1866)Ctg>Ttg	p.L622L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	622	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGCGGACCTCTGGGGCCTCT	0.408										HNSCC(39;0.1)			T	147259316	C	T	147259316	2	4	10	1	0	0	0	0	0	0	0	1	3678	912	32	2		2	CNTNAP2	7	147259316	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	31645088	147259316	11879347	36	668											
DEFB135	613209	broad.mit.edu	37	chr8	11842018	11842018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggccaaaatgtctaaaaaaCgaacaatatcgtattttgtg	16	11	7	7	3	1	0	0	0	1	0	2	1	1	0	1	1	2	1	1	1	9	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:11842018C>G	uc003wuw.1	+	1	153	c.153C>G	c.(151-153)aaC>aaG	p.N51K		NM_001033017	NP_001028189	Q30KP9	DB135_HUMAN	Homo sapiens defensin, beta 135 (DEFB135), mRNA.	51					defense response to bacterium	extracellular region				endometrium(1)|large_intestine(2)|prostate(1)	4						GTCTAAAAAACGAACAATATC	0.383													G	11842018	C	G	11842018	3	3	10	1	0	0	0	0	1	0	0	0	4458	535	19	4	159	4	DEFB135	8	11842018	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		11842018	134522004	37	669											
SLCO5A1	81796	broad.mit.edu	37	chr8	70667821	70667821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcttttttgggaaagtaaAcattgggaatatcacaagaa	17	11	9	4	0	1	1	1	0	0	1	1	3	1	3	0	2	2	2	0	2	8	6			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:70667821A>T	uc003xyl.3	-	3	1803	c.1096T>A	c.(1096-1098)Ttt>Att	p.F366I	SLCO5A1_uc010lzb.3_Missense_Mutation_p.F366I|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.F366I|SLCO5A1_uc010lzc.2_Missense_Mutation_p.F366I	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	366						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGAAAGTAAACATTGGGAAT	0.353													T	70667821	A	T	70667821	3	4	10	1	0	0	0	0	1	0	0	0	14825	43	2	5	1478	5	SLCO5A1	8	70667821	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	58825803	70667821	75696201	38	670											
KCNB2	9312	broad.mit.edu	37	chr8	73848476	73848476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgctgcagttccaaaacGtgaggcgcgtggtccagatc	8	8	14	11	4	0	2	0	1	0	1	3	2	2	2	2	2	3	3	2	2	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:73848476G>A	uc003xzb.3	+	2	1474	c.886G>A	c.(886-888)Gtg>Atg	p.V296M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	296					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V296L(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GTTCCAAAACGTGAGGCGCGT	0.527													A	73848476	G	A	73848476	3	1	10	1	0	0	0	0	1	0	0	0	8071	1145	40	1	892	1	KCNB2	8	73848476	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	3180655	73848476	72515546	39	671											
COL22A1	169044	broad.mit.edu	37	chr8	139890128	139890128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcctcgcccacgcccaCggcaaagatgcggatgccag	9	4	13	15	4	0	1	0	0	0	1	1	3	0	2	4	2	3	1	4	2	1	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr8:139890128C>T	uc003yvd.3	-	2	970	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	175	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.V175M(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCACGCCCACGGCAAAGATG	0.667										HNSCC(7;0.00092)			T	139890128	C	T	139890128	3	4	10	1	0	0	0	0	1	0	0	0	3712	536	19	1	4609	1	COL22A1	8	139890128	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	66041652	139890128	6473894	40	672											
GPR123	84435	broad.mit.edu	37	chr10	134886514	134886514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacagtgttatttttacctCcgtcttgcaatcctctcacc	8	15	5	13	1	2	0	1	0	2	0	5	1	4	0	4	0	3	2	4	0	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr10:134886514C>T	uc001llw.3	+	2	548	c.548C>T	c.(547-549)tCc>tTc	p.S183F				Q86SQ6	GP123_HUMAN	Homo sapiens G protein-coupled receptor 123 (GPR123), mRNA.	0			A -> S (in dbSNP:rs34915504).			integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		ATTTTTACCTCCGTCTTGCAA	0.562													T	134886514	C	T	134886514	3	4	10	1	0	0	0	0	1	0	0	0	6691	870	30	2		2	GPR123	10	134886514	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		134886514	648233	41	673											
OR56A4	120793	broad.mit.edu	37	chr11	6023920	6023920	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcatgatgaacatctggagGaagcaggctgggaagctgat	12	9	14	6	0	2	3	1	3	1	0	2	6	2	6	0	4	3	3	0	4	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6023920G>A	uc010qzv.2	-	0	459	c.459C>T	c.(457-459)ttC>ttT	p.F153F		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACATCTGGAGGAAGCAGGCTG	0.532													A	6023920	G	A	6023920	2	1	10	1	0	0	0	0	0	0	0	1	11211	1165	41	2		2	OR56A4	11	6023920	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08		6023920	128982596	42	674											
TRIM3	10612	broad.mit.edu	37	chr11	6470286	6470286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagcgataggctttaaagCagtggttgccagcatcagcc	10	9	13	9	1	1	0	1	0	0	0	1	1	1	0	2	3	5	5	2	3	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:6470286C>T	uc001mdh.3	-	12	2603	c.2207G>A	c.(2206-2208)tGc>tAc	p.C736Y	TRIM3_uc001mdi.3_Missense_Mutation_p.C736Y|TRIM3_uc010raj.2_Missense_Mutation_p.C617Y|TRIM3_uc009yfd.3_Missense_Mutation_p.C736Y	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	736					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.C736Y(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTTAAAGCAGTGGTTGCC	0.562													T	6470286	C	T	6470286	3	4	10	1	0	0	0	0	1	0	0	0	16605	710	25	2	31	2	TRIM3	11	6470286	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	446366	6470286	128536230	43	675											
ANO5	203859	broad.mit.edu	37	chr11	22291917	22291917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactctgagaagctgtataGtcgatgggagcaggatcatg	13	9	13	6	1	2	1	1	1	1	1	3	5	2	3	0	2	3	3	0	2	4	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22291917G>T	uc001mqi.2	+	17	2275	c.1958G>T	c.(1957-1959)aGt>aTt	p.S653I	ANO5_uc001mqj.2_Missense_Mutation_p.S652I	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	653						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGCTGTATAGTCGATGGGAG	0.398													T	22291917	G	T	22291917	3	4	10	1	0	0	0	0	1	0	0	0	700	1029	36	4	2028	4	ANO5	11	22291917	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	15821631	22291917	112714599	44	676											
GAS2	2620	broad.mit.edu	37	chr11	22747846	22747846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatttttcagaatctaccGttgaagaagatcccatgcaa	13	14	6	8	1	2	4	1	1	1	3	3	4	3	4	2	0	2	2	2	0	6	6			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:22747846G>A	uc009yie.3	+	3	582	c.276G>A	c.(274-276)ccG>ccA	p.P92P	GAS2_uc001mqm.3_Silent_p.P92P|GAS2_uc001mqn.3_Non-coding_Transcript|GAS2_uc001mqo.3_Silent_p.P92P	NM_001143830	NP_808221	O43903	GAS2_HUMAN	Homo sapiens growth arrest-specific 2 (GAS2), transcript variant 3, mRNA.	92	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						AGAATCTACCGTTGAAGAAGA	0.393													A	22747846	G	A	22747846	2	1	10	1	0	0	0	0	0	0	0	1	6299	1132	40	1		1	GAS2	11	22747846	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	455929	22747846	112258670	45	677											
RAG1	5896	broad.mit.edu	37	chr11	36596452	36596452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgtgtcttccagcaCtgatgttggcattattgatg	10	14	11	6	0	1	3	0	2	1	1	2	4	2	3	1	1	1	3	1	1	3	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:36596452C>T	uc021qgb.1	+	0	1598	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.T533I	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	533					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TCTTCCAGCACTGATGTTGGC	0.493									Familial Hemophagocytic Lymphohistiocytosis				T	36596452	C	T	36596452	3	4	10	1	0	0	0	0	1	0	0	0	13091	565	20	2	1600	2	RAG1	11	36596452	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	13848606	36596452	98410064	46	678											
OR4X1	390113	broad.mit.edu	37	chr11	48286015	48286015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatcatcaccaatggCggctccatctccgtagtcag	8	10	9	14	2	4	1	3	1	1	0	6	1	5	1	3	2	1	3	3	2	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:48286015C>T	uc010rht.2	+	0	603	c.603C>T	c.(601-603)ggC>ggT	p.G201G		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCACCAATGGCGGCTCCATCT	0.557													T	48286015	C	T	48286015	2	4	10	1	0	0	0	0	0	0	0	1	11160	755	27	1		1	OR4X1	11	48286015	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	11689563	48286015	86720501	47	679											
OR5B17	219965	broad.mit.edu	37	chr11	58125932	58125932	+	Frame_Shift_Del	DEL	T	T	-																															caagaagtgcaaaaaagacaTtaaaacttgatataagaaca																										TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:58125932delT	uc010rke.2	-	0	611	c.611delA	c.(610-612)aatfs	p.N204fs		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				AAAAAAGACATTAAAACTTGA	0.368													-	58125932	T	-	58125932	7	5	10	1	0	1	0	1	0	0	0	0	11225	1493	52	0	335	0	OR5B17	11	58125932	Frame_Shift_Del	DEL	T	TCGA-06-0122-01A-01D-1490-08	9839917	58125932	76880584	48	680											
FADS3	3995	broad.mit.edu	37	chr11	61647583	61647583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggggctgtaggaacttgCgcacaaaattgagatcttga	13	9	12	7	1	1	2	0	2	1	1	1	4	1	3	0	3	2	3	0	3	4	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:61647583C>T	uc001nsm.3	-	1	407	c.254G>A	c.(253-255)cGc>cAc	p.R85H		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	85	Cytochrome b5 heme-binding.				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAGGAACTTGCGCACAAAATT	0.572													T	61647583	C	T	61647583	3	4	10	1	0	0	0	0	1	0	0	0	5412	768	27	1	1127	1	FADS3	11	61647583	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	3521651	61647583	73358933	49	681											
THRSP	7069	broad.mit.edu	37	chr11	77775138	77775138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggccatctgtgtggatgtgGaccatgggctgctgccgcgg	5	9	17	10	2	1	0	0	0	1	0	1	2	1	2	3	5	2	2	3	5	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:77775138G>C	uc021qnu.1	+	0	211	c.211G>C	c.(211-213)Gac>Cac	p.D71H	NDUFC2-KCTD14_uc021qnr.1_Intron|NDUFC2-KCTD14_uc021qns.1_Intron|NDUFC2-KCTD14_uc021qnt.1_Intron|THRSP_uc001oyx.3_Missense_Mutation_p.D71H	NM_003251	NP_003242	Q92748	THRSP_HUMAN	Homo sapiens thyroid hormone responsive (THRSP), mRNA.	71					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			TGTGGATGTGGACCATGGGCT	0.642													C	77775138	G	C	77775138	3	2	10	1	0	0	0	0	1	0	0	0	15976	1174	41	4	213	4	THRSP	11	77775138	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	16127555	77775138	57231378	50	682											
PRCP	5547	broad.mit.edu	37	chr11	82571019	82571019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgaatctgcacatacCgtgttattacaaaaccagat	14	13	5	9	1	2	2	1	1	1	1	2	2	2	2	2	0	4	2	2	0	6	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:82571019C>T	uc001ozs.3	-	2	422	c.309_splice	c.e2+1	p.T103_splice	PRCP_uc001ozr.3_Splice_Site_p.T124_splice	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	103					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CTGCACATACCGTGTTATTAC	0.348													T	82571019	C	T	82571019	2	4	10	1	0	0	0	0	0	0	0	1	12535	666	23	1		1	PRCP	11	82571019	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	4795881	82571019	52435497	51	683											
NFRKB	4798	broad.mit.edu	37	chr11	129751720	129751720	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagggagctggctggcgatGactgccaatccaaaactcgc	10	7	13	11	2	0	2	0	2	0	0	2	4	1	3	2	3	3	2	2	3	3	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr11:129751720G>C	uc001qfg.3	-	9	1416	c.1295C>G	c.(1294-1296)tCa>tGa	p.S432*	NFRKB_uc001qfi.3_Nonsense_Mutation_p.S407*|NFRKB_uc001qfh.3_Nonsense_Mutation_p.S430*|NFRKB_uc010sbw.1_Nonsense_Mutation_p.S419*	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	407					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GGCTGGCGATGACTGCCAATC	0.557											OREG0021512	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	129751720	G	C	129751720	4	2	10	1	0	0	0	0	0	1	0	0	10460	1294	45	4	2743	4	NFRKB	11	129751720	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	47180701	129751720	5254796	52	684											
ESPL1	9700	broad.mit.edu	37	chr12	53684176	53684176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtttgatgccatccagaagGcacagaaagagaacagcagc	16	5	11	9	0	0	4	0	1	0	3	1	5	1	4	2	1	4	3	2	1	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:53684176G>A	uc001sck.2	+	23	5378	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	ESPL1_uc001scj.2_Missense_Mutation_p.A1438T	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	1763					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCCAGAAGGCACAGAAAGA	0.557													A	53684176	G	A	53684176	3	1	10	1	0	0	0	0	1	0	0	0	5294	1203	42	2	5377	2	ESPL1	12	53684176	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		53684176	80167719	53	685											
LRP1	4035	broad.mit.edu	37	chr12	57598195	57598195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccccctggcaccagtgCggacctgccccctggacgag	5	5	13	18	2	0	0	0	0	0	0	1	3	1	2	6	4	2	2	6	4	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:57598195C>T	uc001snd.3	+	70	11420	c.10954C>T	c.(10954-10956)Cgg>Tgg	p.R3652W		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3652	LDL-receptor class A 29.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.R3652W(2)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCACCAGTGCGGACCTGCCC	0.622													T	57598195	C	T	57598195	3	4	10	1	0	0	0	0	1	0	0	0	9021	759	27	1	11236	1	LRP1	12	57598195	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	3914019	57598195	76253700	54	686											
ANO4	121601	broad.mit.edu	37	chr12	101336194	101336194	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcaaatggactttactttCgagatggaaagtgtcgaatt	14	13	9	5	2	1	1	1	0	0	1	3	5	1	3	0	2	1	0	0	2	5	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:101336194C>T	uc010svm.1	+	4	909	c.337C>T	c.(337-339)Cga>Tga	p.R113*	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Nonsense_Mutation_p.R78*|ANO4_uc001thx.2_Nonsense_Mutation_p.R113*	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	113						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						ACTTTACTTTCGAGATGGAAA	0.388										HNSCC(74;0.22)			T	101336194	C	T	101336194	4	4	10	1	0	0	0	0	0	1	0	0	699	876	31	1	242	1	ANO4	12	101336194	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	43737999	101336194	32515701	55	687											
GCN1L1	10985	broad.mit.edu	37	chr12	120599821	120599821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgggaggacccggtcCggcgacaggacggaaaggga	10	3	19	9	4	0	0	0	0	0	0	1	6	1	5	2	7	1	1	2	7	1	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr12:120599821C>T	uc001txo.3	-	20	2218	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	735					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGACCCGGTCCGGCGACAGGA	0.617													T	120599821	C	T	120599821	2	4	10	1	0	0	0	0	0	0	0	1	6353	639	23	1		1	GCN1L1	12	120599821	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	19263627	120599821	13252074	56	688											
POTEG	404785	broad.mit.edu	37	chr14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgaggtaccacgtccGtcgagaagatctggacaagc	11	5	14	11	4	1	2	0	0	1	2	3	6	2	4	3	3	3	1	3	3	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:19553823G>A	uc001vuz.1	+	0	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	136								p.R136H(2)|p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577													A	19553823	G	A	19553823	3	1	10	1	0	0	0	0	1	0	0	0	12343	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		19553823	87795717	57	689											
FOXA1	3169	broad.mit.edu	37	chr14	38061527	38061527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttggcgtcgccgccgccGcccgcgcggctgcggcccag	1	5	16	19	9	1	0	0	0	1	0	2	0	1	0	5	3	1	1	5	3	0	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:38061527G>A	uc001wuf.3	-	1	774	c.462C>T	c.(460-462)ggC>ggT	p.G154G	FOXA1_uc010tpz.2_Silent_p.G121G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	154					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		cgccgccgccgcccgcgcggc	0.706													A	38061527	G	A	38061527	2	1	10	1	0	0	0	0	0	0	0	1	6038	1074	38	1		1	FOXA1	14	38061527	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	18507704	38061527	69288013	58	690											
MDGA2	161357	broad.mit.edu	37	chr14	47426709	47426709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtcaaattgacccgtccGtaataatttattgcccaagc	13	11	7	10	2	1	2	1	1	0	1	2	2	2	2	3	0	2	1	3	0	5	6			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr14:47426709G>A	uc001wwj.4	-	8	2115	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	MDGA2_uc001wwi.4_Missense_Mutation_p.R355W|MDGA2_uc010ani.3_Missense_Mutation_p.R144W|SNORA25_uc021rsl.1_5'Flank	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	584					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGACCCGTCCGTAATAATTTA	0.443													A	47426709	G	A	47426709	3	1	10	1	0	0	0	0	1	0	0	0	9482	1144	40	1	1156	1	MDGA2	14	47426709	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	9365182	47426709	59922831	59	691											
BAHD1	22893	broad.mit.edu	37	chr15	40751616	40751616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacctgcccctgctgaTgggtggacaggcggctctga	5	8	13	15	1	2	2	1	2	1	0	2	3	2	3	4	4	2	2	4	4	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:40751616T>C	uc001zlu.2	+	1	1024	c.953T>C	c.(952-954)aTg>aCg	p.M318T	BAHD1_uc001zlt.2_Missense_Mutation_p.M318T|BAHD1_uc010bbp.1_Missense_Mutation_p.M318T|BAHD1_uc001zlv.2_Missense_Mutation_p.M318T	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	318	Pro-rich.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCCCTGCTGATGGGTGGACAG	0.652													C	40751616	T	C	40751616	3	2	10	1	0	0	0	0	1	0	0	0	1302	1464	51	3	955	3	BAHD1	15	40751616	Missense_Mutation	SNP	T	TCGA-06-0122-01A-01D-1490-08		40751616	61779776	60	692											
CYP19A1	1588	broad.mit.edu	37	chr15	51507426	51507426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcttgtcaggtcaccacGtttctgaacaattggaagat	10	13	8	10	1	4	2	2	1	2	1	5	3	4	3	1	2	1	1	1	2	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:51507426G>A	uc001zyz.4	-	8	1113	c.862C>T	c.(862-864)Cgt>Tgt	p.R288C	CYP19A1_uc001zza.4_Missense_Mutation_p.R288C|CYP19A1_uc001zzb.2_Missense_Mutation_p.R288C	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	288					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	AGGTCACCACGTTTCTGAACA	0.403													A	51507426	G	A	51507426	3	1	10	1	0	0	0	0	1	0	0	0	4181	1145	40	1	661	1	CYP19A1	15	51507426	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	10755810	51507426	51023966	61	693											
CILP	8483	broad.mit.edu	37	chr15	65490345	65490345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaagaacctctcactcCggtaggccctcaccttaaca	11	8	7	15	1	2	1	2	0	1	1	4	1	3	1	4	3	2	2	4	3	5	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr15:65490345C>T	uc002aon.2	-	8	2460	c.2279G>A	c.(2278-2280)cGg>cAg	p.R760Q		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	760					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CCTCTCACTCCGGTAGGCCCT	0.547													T	65490345	C	T	65490345	3	4	10	1	0	0	0	0	1	0	0	0	3459	652	23	1	1279	1	CILP	15	65490345	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	13982919	65490345	37041047	62	694											
ANKRD11	29123	broad.mit.edu	37	chr16	89351279	89351279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgacctctgaccaagcCggggaagaaatggttttcca	12	8	11	10	1	1	3	0	2	1	1	2	5	2	4	4	3	2	1	4	3	4	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr16:89351279C>T	uc002fmx.1	-	8	2132	c.1671G>A	c.(1669-1671)ccG>ccA	p.P557P	ANKRD11_uc002fmy.1_Silent_p.P557P|ANKRD11_uc002fnc.1_Silent_p.P557P|ANKRD11_uc002fnb.1_Silent_p.P514P	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	557	Ser-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGACCAAGCCGGGGAAGAAA	0.562													T	89351279	C	T	89351279	2	4	10	1	0	0	0	0	0	0	0	1	639	639	23	1		1	ANKRD11	16	89351279	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08		89351279	1003474	63	695											
COX10	1352	broad.mit.edu	37	chr17	14110273	14110273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccggcgcgtggcgctgCgccactgcctggccctgctc	1	8	15	17	5	0	0	0	0	0	0	1	0	0	0	4	3	4	2	4	3	0	0			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:14110273C>T	uc002gof.4	+	6	1279	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	COX10_uc010vvs.2_Missense_Mutation_p.R142C|COX10_uc010vvt.2_Missense_Mutation_p.R167C	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	359					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		CGTGGCGCTGCGCCACTGCCT	0.657													T	14110273	C	T	14110273	3	4	10	1	0	0	0	0	1	0	0	0	3793	768	27	1	1101	1	COX10	17	14110273	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08		14110273	67084937	64	696											
SYNRG	11276	broad.mit.edu	37	chr17	35928904	35928904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttctacctgtttccatgCtgggagttacttgtttttga	5	20	8	8	0	1	1	0	1	1	0	2	2	2	2	2	1	3	4	2	1	2	8			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:35928904C>G	uc002hoa.3	-	10	1553	c.1470G>C	c.(1468-1470)caG>caC	p.Q490H	SYNRG_uc010wde.2_Missense_Mutation_p.Q412H|SYNRG_uc010wdf.2_Missense_Mutation_p.Q412H|SYNRG_uc002hoc.3_Missense_Mutation_p.Q411H|SYNRG_uc002hoe.3_Missense_Mutation_p.Q412H|SYNRG_uc002hod.3_Missense_Mutation_p.Q412H|SYNRG_uc010wdg.2_Missense_Mutation_p.Q329H|SYNRG_uc002hob.3_Missense_Mutation_p.Q490H|SYNRG_uc002hof.3_Missense_Mutation_p.Q202H|SYNRG_uc010cvd.1_Missense_Mutation_p.Q290H|SYNRG_uc002hog.1_Missense_Mutation_p.Q624H	NM_007247	NP_009178	Q9UMZ2	SYNRG_HUMAN	Homo sapiens synergin, gamma (SYNRG), transcript variant 1, mRNA.	490					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGTTTCCATGCTGGGAGTTAC	0.363													G	35928904	C	G	35928904	3	3	10	1	0	0	0	0	1	0	0	0	15557	796	28	4	2595	4	SYNRG	17	35928904	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	21818631	35928904	45266306	65	697											
KRT34	3885	broad.mit.edu	37	chr17	39535345	39535345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagctgagactccacGttggtgatcaggctctgcac	7	10	11	13	1	3	2	1	2	2	1	4	3	4	2	2	2	3	4	2	2	0	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:39535345G>A	uc002hwm.3	-	5	1098	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617													A	39535345	G	A	39535345	2	1	10	1	0	0	0	0	0	0	0	1	8529	1136	40	1		1	KRT34	17	39535345	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	3606441	39535345	41659865	66	698											
ARMC7	79637	broad.mit.edu	37	chr17	73125017	73125017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctccggaacctggcaCagatcttcctggaggacttc	8	8	11	14	1	1	1	0	0	1	1	4	4	3	4	4	5	1	2	4	5	1	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr17:73125017C>T	uc002jmw.1	+	2	783	c.481C>T	c.(481-483)Cag>Tag	p.Q161*	ARMC7_uc010wru.1_3'UTR|ARMC7_uc010dga.1_Non-coding_Transcript	NM_024585	NP_078861	Q9H6L4	ARMC7_HUMAN	Homo sapiens armadillo repeat containing 7 (ARMC7), mRNA.	161							binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|pancreas(3)	9	all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GAACCTGGCACAGATCTTCCT	0.706													T	73125017	C	T	73125017	4	4	10	1	0	0	0	0	0	1	0	0	961	479	17	2	491	2	ARMC7	17	73125017	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	33589672	73125017	8070193	67	699											
ANKRD12	23253	broad.mit.edu	37	chr18	9280962	9280962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttttaatgaggcaacaAcatgaagctgcggctttaaa	13	12	9	7	1	1	2	0	2	1	0	1	2	1	2	0	2	4	3	0	2	6	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:9280962A>C	uc002knv.3	+	12	6291	c.6027A>C	c.(6025-6027)caA>caC	p.Q2009H	ANKRD12_uc002knw.3_Missense_Mutation_p.Q1986H|ANKRD12_uc002knx.3_Missense_Mutation_p.Q1986H	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	2009						nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						TGAGGCAACAACATGAAGCTG	0.363													C	9280962	A	C	9280962	3	2	10	1	0	0	0	0	1	0	0	0	640	40	2	5	6073	5	ANKRD12	18	9280962	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		9280962	68796286	68	700											
GALR1	2587	broad.mit.edu	37	chr18	74962646	74962646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatcttcgcgctgggtGtgctgggcaacagcctagtg	5	10	15	11	2	1	1	0	1	1	0	2	1	1	1	2	2	3	3	2	2	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr18:74962646G>A	uc002lms.4	+	0	639	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_001480	NP_001471	P47211	GALR1_HUMAN	Homo sapiens galanin receptor 1 (GALR1), mRNA.	48					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	p.G47V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		CGCGCTGGGTGTGCTGGGCAA	0.682													A	74962646	G	A	74962646	3	1	10	1	0	0	0	0	1	0	0	0	6281	1377	48	2	144	2	GALR1	18	74962646	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	65681684	74962646	3114602	69	701											
OR7G2	390882	broad.mit.edu	37	chr19	9213120	9213120	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgcagtcttcctaggtGagtcagtaaccacagaacta	12	9	8	12	0	2	2	1	1	1	1	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:9213120G>C	uc010xkk.2	-	0	863	c.863C>G	c.(862-864)tCa>tGa	p.S288*		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						CTTCCTAGGTGAGTCAGTAAC	0.463													C	9213120	G	C	9213120	4	2	10	1	0	0	0	0	0	1	0	0	11299	1294	45	4	176	4	OR7G2	19	9213120	Nonsense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		9213120	49915863	70	702											
C19orf44	84167	broad.mit.edu	37	chr19	16612069	16612069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttcccagaatcaagccCgtgaacttcctgtcaccgaa	13	8	6	14	2	2	2	2	1	0	1	4	3	4	2	4	0	3	0	4	0	5	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:16612069C>T	uc002neh.1	+	1	539	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	MED26_uc002nee.2_Intron|C19orf44_uc002nef.1_Missense_Mutation_p.R156C|C19orf44_uc002neg.3_Missense_Mutation_p.R156C|C19orf44_uc010eai.1_Non-coding_Transcript	NM_032207	NP_115583	Q9H6X5	CS044_HUMAN	Homo sapiens chromosome 19 open reading frame 44 (C19orf44), mRNA.	156										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GAATCAAGCCCGTGAACTTCC	0.498													T	16612069	C	T	16612069	3	4	10	1	0	0	0	0	1	0	0	0	1946	652	23	1	468	1	C19orf44	19	16612069	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	7398949	16612069	42516914	71	703											
KLHL26	55295	broad.mit.edu	37	chr19	18779533	18779533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcaatgagtggggctaCgcctgctcgctgaagcgccg	6	6	16	13	6	0	2	0	2	0	0	1	2	0	2	2	3	3	4	2	3	3	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:18779533C>T	uc002njz.1	+	2	1353	c.1326C>T	c.(1324-1326)taC>taT	p.Y442Y		NM_018316	NP_060786	Q53HC5	KLH26_HUMAN	Homo sapiens kelch-like 26 (Drosophila) (KLHL26), mRNA.	442										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						AGTGGGGCTACGCCTGCTCGC	0.701													T	18779533	C	T	18779533	2	4	10	1	0	0	0	0	0	0	0	1	8439	547	19	1		1	KLHL26	19	18779533	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	2167464	18779533	40349450	72	704											
APLP1	333	broad.mit.edu	37	chr19	36363501	36363501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggaggagcgtaggatgCgccagattaatgaggtgata	12	8	15	6	2	0	3	0	2	0	1	0	6	0	6	2	4	2	1	2	4	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:36363501C>T	uc002oce.3	+	6	1105	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	APLP1_uc010xsz.2_Missense_Mutation_p.R284C|APLP1_uc002ocf.3_Missense_Mutation_p.R323C|APLP1_uc002ocg.3_Missense_Mutation_p.R226C|APLP1_uc010xta.2_Missense_Mutation_p.R317C	NM_005166	NP_005157	P51693	APLP1_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 1 (APLP1), transcript variant 2, mRNA.	323	Heparin-binding (By similarity).				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGTAGGATGCGCCAGATTAA	0.537													T	36363501	C	T	36363501	3	4	10	1	0	0	0	0	1	0	0	0	781	768	27	1	993	1	APLP1	19	36363501	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	17583968	36363501	22765482	73	705											
PSG8	440533	broad.mit.edu	37	chr19	43269670	43269670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggttctctcctcacCtgtgagcaggagccccttcc	6	9	10	16	0	2	1	1	1	1	0	5	3	4	3	6	3	2	2	6	3	0	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:43269670C>A	uc002ouo.2	-	1	162	c.64_splice	c.e1+1	p.A22_splice	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Splice_Site_p.A22_splice|PSG8_uc010ein.3_Splice_Site_p.V22_splice|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	22						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				CTCTCCTCACCTGTGAGCAGG	0.567													A	43269670	C	A	43269670	3	1	10	1	0	0	0	0	1	0	0	0	12746	695	24	4	1257	4	PSG8	19	43269670	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	6906169	43269670	15859313	74	706											
ZNF229	7772	broad.mit.edu	37	chr19	44933156	44933156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacacacgtcacacacGtagggcctctctcccgtgtg	7	9	8	17	3	2	0	1	0	1	0	5	0	4	0	3	1	0	1	3	1	1	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:44933156G>A	uc002oze.1	-	5	2234	c.1800C>T	c.(1798-1800)taC>taT	p.Y600Y	ZNF229_uc010ejk.1_Silent_p.Y254Y|ZNF229_uc010ejl.1_Silent_p.Y594Y	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	600					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CGTCACACACGTAGGGCCTCT	0.542													A	44933156	G	A	44933156	2	1	10	1	0	0	0	0	0	0	0	1	17883	1140	40	1		1	ZNF229	19	44933156	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	1663486	44933156	14195827	75	707											
SPIB	6689	broad.mit.edu	37	chr19	50926144	50926144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgaagccttcgacccGgcagcagccgcttttagcca	8	8	9	16	3	0	1	0	1	0	0	1	2	0	1	5	1	4	3	5	1	3	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:50926144G>A	uc002psd.3	+	3	214	c.189G>A	c.(187-189)ccG>ccA	p.P63P	SPIB_uc021uyc.1_Missense_Mutation_p.R44Q|SPIB_uc002pse.3_Silent_p.P63P|SPIB_uc010ycc.2_Intron	NM_003121	NP_003112	Q01892	SPIB_HUMAN	Homo sapiens Spi-B transcription factor (Spi-1/PU.1 related) (SPIB), transcript variant 1, mRNA.	63					regulation of transcription from RNA polymerase II promoter	cytoplasm|microtubule cytoskeleton|nucleus	sequence-specific DNA binding	p.P63Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)	14		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		CCTTCGACCCGGCAGCAGCCG	0.662													A	50926144	G	A	50926144	2	1	10	1	0	0	0	0	0	0	0	1	15146	1103	39	1		1	SPIB	19	50926144	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	5992988	50926144	8202839	76	708											
SIGLEC9	27180	broad.mit.edu	37	chr19	51630497	51630497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcagctgaattcacctGcagagctcagaaccctctcg	10	8	10	13	1	3	3	2	1	1	2	4	4	3	4	2	1	5	4	2	1	2	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:51630497G>A	uc010yct.2	+	3	1054	c.959G>A	c.(958-960)tGc>tAc	p.C320Y	SIGLEC9_uc002pvu.3_Missense_Mutation_p.C320Y	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	320	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GAATTCACCTGCAGAGCTCAG	0.622													A	51630497	G	A	51630497	3	1	10	1	0	0	0	0	1	0	0	0	14409	1319	46	2	973	2	SIGLEC9	19	51630497	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	704353	51630497	7498486	77	709											
ZNF417	147687	broad.mit.edu	37	chr19	58423432	58423432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgagcaacttacccagCgaggatatgagagccaggtt	12	7	13	9	2	0	2	0	2	0	1	0	5	0	3	2	2	6	2	2	2	3	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr19:58423432C>T	uc002qqq.3	-	1	358	c.159G>A	c.(157-159)tcG>tcA	p.S53S	ZNF417_uc010yhm.2_Silent_p.S10S|ZNF417_uc002qqr.3_Silent_p.S52S	NM_152475	NP_689688	Q8TAU3	ZN417_HUMAN	Homo sapiens zinc finger protein 417 (ZNF417), mRNA.	53	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACTTACCCAGCGAGGATATGA	0.498													T	58423432	C	T	58423432	2	4	10	1	0	0	0	0	0	0	0	1	17995	755	27	1		1	ZNF417	19	58423432	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	6792935	58423432	705551	78	710											
XKR7	343702	broad.mit.edu	37	chr20	30584453	30584453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacctgttcagcattgcCgcccgcggcctggccttcgc	3	9	12	17	4	1	0	1	0	0	0	2	0	1	0	5	3	2	3	5	3	0	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:30584453C>T	uc002wxe.3	+	2	1107	c.933C>T	c.(931-933)gcC>gcT	p.A311A		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	311						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TCAGCATTGCCGCCCGCGGCC	0.637													T	30584453	C	T	30584453	2	4	10	1	0	0	0	0	0	0	0	1	17538	639	23	1		1	XKR7	20	30584453	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08		30584453	32441067	79	711											
KIAA1755	85449	broad.mit.edu	37	chr20	36869819	36869819	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgctcccatatgtcctGcccttacccttggccaaact	7	13	5	16	0	0	0	0	0	0	0	2	0	2	0	5	1	5	1	5	1	4	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:36869819G>C	uc002xhy.1	-	2	986	c.714C>G	c.(712-714)ggC>ggG	p.G238G	KIAA1755_uc002xhz.1_Silent_p.G238G	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	238										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CATATGTCCTGCCCTTACCCT	0.582													C	36869819	G	C	36869819	2	2	10	1	0	0	0	0	0	0	0	1	8315	1306	46	4		4	KIAA1755	20	36869819	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	6285366	36869819	26155701	80	712											
TOX2	84969	broad.mit.edu	37	chr20	42695486	42695486	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagtggggagtgtggcatCagcacctgcaggttagtcct	7	9	14	11	0	1	0	1	0	0	0	2	1	2	1	3	4	2	4	3	4	1	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:42695486C>G	uc010ggo.3	+	7	1513	c.1473C>G	c.(1471-1473)atC>atG	p.I491M	TOX2_uc002xle.4_Missense_Mutation_p.I449M|TOX2_uc010ggp.3_Missense_Mutation_p.I449M|TOX2_uc002xlf.4_Missense_Mutation_p.I473M|TOX2_uc010zwk.2_Missense_Mutation_p.I369M	NM_001098797	NP_116272	Q96NM4	TOX2_HUMAN	Homo sapiens TOX high mobility group box family member 2 (TOX2), transcript variant 1, mRNA.	473					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)	26		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.00189)			AGTGTGGCATCAGCACCTGCA	0.647													G	42695486	C	G	42695486	3	3	10	1	0	0	0	0	1	0	0	0	16479	816	29	4	1633	4	TOX2	20	42695486	Missense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	5825667	42695486	20330034	81	713											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506781	44506781	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtggacatggctggCtcttcagtggacgttcagct	6	11	13	11	1	3	0	2	0	1	0	3	2	3	2	1	5	1	4	1	5	0	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:44506781C>G	uc002xqd.3	+	1	1829	c.1584C>G	c.(1582-1584)ggC>ggG	p.G528G	ZSWIM3_uc010zxg.2_Silent_p.G522G	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	528							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ACATGGCTGGCTCTTCAGTGG	0.547													G	44506781	C	G	44506781	2	3	10	1	0	0	0	0	0	0	0	1	18339	784	28	4		4	ZSWIM3	20	44506781	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	1811295	44506781	18518739	82	714											
TSHZ2	128553	broad.mit.edu	37	chr20	51871857	51871857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaagaaagtccccaCgaagaggcctcatctttcag	12	8	11	10	1	3	2	2	0	1	2	4	4	4	3	3	2	0	0	3	2	3	1	rs143642849		TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr20:51871857C>T	uc002xwo.3	+	1	2747	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	TSHZ2_uc021wex.1_Silent_p.H617H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	620					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAAGTCCCCACGAAGAGGCCT	0.517													T	51871857	C	T	51871857	2	4	10	1	0	0	0	0	0	0	0	1	16725	535	19	1		1	TSHZ2	20	51871857	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	7365076	51871857	11153663	83	715											
TIMP3	7078	broad.mit.edu	37	chr22	33255261	33255261	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggttaccctggctaccAgtccaaacactacgcctgca	9	10	7	15	2	0	0	0	0	0	0	2	0	1	0	4	2	5	3	4	2	4	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:33255261A>C	uc003anb.3	+	4	1719	c.533A>C	c.(532-534)cAg>cCg	p.Q178P	SYN3_uc003amx.3_Intron|SYN3_uc003amy.3_Intron|SYN3_uc003amz.3_Intron	NM_000362	NP_000353	P35625	TIMP3_HUMAN	Homo sapiens TIMP metallopeptidase inhibitor 3 (TIMP3), mRNA.	178	Mediates interaction with EFEMP1.				negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCTGGCTACCAGTCCAAACAC	0.557													C	33255261	A	C	33255261	3	2	10	1	0	0	0	0	1	0	0	0	16019	188	7	5	551	5	TIMP3	22	33255261	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08		33255261	18049305	84	716											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	10	5	12	14	2	0	0	0	0	0	0	0	1	0	1	3	3	3	4	3	3	2	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chr22:42071074G>A	uc003bav.3	-	2	363	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN	Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577													A	42071074	G	A	42071074	3	1	10	1	0	0	0	0	1	0	0	0	10486	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08	8815813	42071074	9233492	85	717											
PRPS2	5634	broad.mit.edu	37	chrX	12817486	12817486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcccgtgtttcccatacGcccgacaagataaaaaggac	13	8	8	12	3	0	2	0	1	0	1	2	4	2	3	3	1	1	1	3	1	5	3			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:12817486G>A	uc004cva.3	+	1	426	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	PRPS2_uc004cvb.3_Missense_Mutation_p.A95T|PRPS2_uc010nec.3_Missense_Mutation_p.A28T	NM_001039091	NP_001034180	P11908	PRPS2_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 2 (PRPS2), transcript variant 1, mRNA.	95					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTTCCCATACGCCCGACAAGA	0.468													A	12817486	G	A	12817486	3	1	10	1	0	0	0	0	1	0	0	0	12666	1087	38	1	289	1	PRPS2	23	12817486	Missense_Mutation	SNP	G	TCGA-06-0122-01A-01D-1490-08		12817486	142453074	86	718											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142412	49142412	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaggattcccccctcCtcccctctctgtggcctggg	3	10	9	19	0	2	0	1	0	1	0	6	1	5	1	8	3	0	0	8	3	0	1			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:49142412C>G	uc004dnh.2	+	3	1287	c.1260C>G	c.(1258-1260)tcC>tcG	p.S420S	PPP1R3F_uc004dni.3_Silent_p.S74S|PPP1R3F_uc011mnd.2_Silent_p.S91S|PPP1R3F_uc004dnj.2_Silent_p.S74S	NM_033215	NP_149992	Q6ZSY5	PPR3F_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3F (PPP1R3F), transcript variant 1, mRNA.	420						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TTCCCCCCTCCTCCCCTCTCT	0.662													G	49142412	C	G	49142412	2	3	10	1	0	0	0	0	0	0	0	1	12457	668	24	4		4	PPP1R3F	23	49142412	Silent	SNP	C	TCGA-06-0122-01A-01D-1490-08	36324926	49142412	106128148	87	719											
AWAT2	158835	broad.mit.edu	37	chrX	69262197	69262197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgtgctgatcatagagGtccgtctccccaaaggcata	13	9	9	10	1	2	2	1	1	1	1	4	2	3	2	3	2	1	2	3	2	5	2			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:69262197G>A	uc004dxt.1	-	5	693	c.687C>T	c.(685-687)gaC>gaT	p.D229D		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	229						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						GATCATAGAGGTCCGTCTCCC	0.502													A	69262197	G	A	69262197	2	1	10	1	0	0	0	0	0	0	0	1	1240	1252	44	2		2	AWAT2	23	69262197	Silent	SNP	G	TCGA-06-0122-01A-01D-1490-08	20119785	69262197	86008363	88	720											
KLHL4	56062	broad.mit.edu	37	chrX	86873003	86873003	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgtcttctgcagctgactCaggtcattgatgtttgctcc	5	16	9	11	0	4	2	2	2	2	0	5	2	5	2	1	1	3	4	1	1	0	4			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:86873003C>T	uc004efa.2	+	3	978	c.796C>T	c.(796-798)Cag>Tag	p.Q266*	KLHL4_uc004efb.2_Nonsense_Mutation_p.Q266*	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	266						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						GCAGCTGACTCAGGTCATTGA	0.418													T	86873003	C	T	86873003	4	4	10	1	0	0	0	0	0	1	0	0	8449	827	29	2	810	2	KLHL4	23	86873003	Nonsense_Mutation	SNP	C	TCGA-06-0122-01A-01D-1490-08	17610806	86873003	68397557	89	721											
KLHL13	90293	broad.mit.edu	37	chrX	117033178	117033178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagtattcacagcttaggAcatcatcataatcacttgtt	14	14	5	8	0	4	0	4	0	0	0	4	1	4	1	0	1	1	3	0	1	5	7			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:117033178A>T	uc011mtp.2	-	7	1803	c.1670T>A	c.(1669-1671)gTc>gAc	p.V557D	KLHL13_uc004eqk.3_Missense_Mutation_p.V503D|KLHL13_uc004eql.3_Missense_Mutation_p.V554D|KLHL13_uc011mtn.2_Missense_Mutation_p.V394D|KLHL13_uc011mto.2_Missense_Mutation_p.V548D|KLHL13_uc011mtq.2_Missense_Mutation_p.V538D|KLHL13_uc004eqm.3_Missense_Mutation_p.V512D|KLHL13_uc022cde.1_Missense_Mutation_p.V538D	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	554					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						ACAGCTTAGGACATCATCATA	0.463													T	117033178	A	T	117033178	3	4	10	1	0	0	0	0	1	0	0	0	8427	275	10	5	310	5	KLHL13	23	117033178	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	30160175	117033178	38237382	90	722											
THOC2	57187	broad.mit.edu	37	chrX	122820484	122820484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattctaacaaagatataaAgaagtcatcgtgttctggcc	15	11	8	7	1	3	3	1	0	2	3	4	3	3	3	1	1	1	1	1	1	6	5			TCGA-06-0122-01A-01D-1490-08	TCGA-06-0122-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08c54819-32fa-455d-a443-fc71dfd3f03a	292c6490-aa26-452e-aeba-0a65c2f125c7	g.chrX:122820484A>G	uc004etu.3	-	7	714	c.682T>C	c.(682-684)Ttt>Ctt	p.F228L	THOC2_uc011muh.1_Missense_Mutation_p.F149L|THOC2_uc011mui.1_Missense_Mutation_p.F113L	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	228					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AAAGATATAAAGAAGTCATCG	0.368													G	122820484	A	G	122820484	3	3	10	1	0	0	0	0	1	0	0	0	15965	72	3	3	4223	3	THOC2	23	122820484	Missense_Mutation	SNP	A	TCGA-06-0122-01A-01D-1490-08	5787306	122820484	32450076	91	723											
CPSF3L	54973	broad.mit.edu	37	chr1	1248063	1248063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccgtctcgccattggccgGcatgtagcagttgacccctg	6	9	11	15	3	1	1	0	1	1	0	2	1	1	1	5	2	1	4	5	2	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:1248063G>A	uc001aef.1	-	14	1843	c.1330C>T	c.(1330-1332)Ccg>Tcg	p.P444S	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Missense_Mutation_p.P438S|CPSF3L_uc009vjz.1_Missense_Mutation_p.P416S|CPSF3L_uc010nyj.1_Missense_Mutation_p.P409S|CPSF3L_uc001aeg.1_Missense_Mutation_p.P314S|CPSF3L_uc001aeh.1_Missense_Mutation_p.P337S|CPSF3L_uc001aei.1_Missense_Mutation_p.P340S|CPSF3L_uc001aek.1_Missense_Mutation_p.P180S			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	438						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		CCATTGGCCGGCATGTAGCAG	0.716													A	1248063	G	A	1248063	3	1	11	1	0	0	0	0	1	0	0	0	3858	1203	42	2	510	2	CPSF3L	1	1248063	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		1248063	248002558	1	724											
KIF17	57576	broad.mit.edu	37	chr1	21014370	21014370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaggcgggtactcagcGctgctggcaaactcagccct	10	6	12	13	2	2	0	2	0	0	0	2	0	2	0	1	3	6	5	1	3	3	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:21014370G>A	uc001bdr.4	-	7	1567	c.1449C>T	c.(1447-1449)agC>agT	p.S483S	KIF17_uc001bdp.4_5'Flank|KIF17_uc009vpx.3_Intron|KIF17_uc001bds.4_Silent_p.S483S	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	483					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GGTACTCAGCGCTGCTGGCAA	0.532													A	21014370	G	A	21014370	2	1	11	1	0	0	0	0	0	0	0	1	8337	1078	38	1		1	KIF17	1	21014370	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	19766307	21014370	228236251	2	725											
FOXJ3	22887	broad.mit.edu	37	chr1	42744223	42744223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtcaaggagtgcattcttCttagaaattcctgttccatg	9	14	10	8	0	3	1	1	0	2	1	5	2	5	2	2	2	1	2	2	2	3	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:42744223C>T	uc001che.3	-	4	477	c.165G>A	c.(163-165)aaG>aaA	p.K55K	FOXJ3_uc001chf.3_Silent_p.K55K|FOXJ3_uc001chh.2_Silent_p.K55K|FOXJ3_uc001chg.3_Silent_p.K55K	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	55					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GTGCATTCTTCTTAGAAATTC	0.453													T	42744223	C	T	42744223	2	4	11	1	0	0	0	0	0	0	0	1	6064	912	32	2		2	FOXJ3	1	42744223	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	21729853	42744223	206506398	3	726											
VCAM1	7412	broad.mit.edu	37	chr1	101197065	101197066	+	Frame_Shift_Del	DEL	TA	TA	-																															ggcagagtacgcaaacacttTatgtcaatggtaagtacata																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:101197065_101197066delTA	uc001dti.3	+	5	1737_1738	c.1516_1517delTA	c.(1516-1518)tatfs	p.Y506fs	VCAM1_uc010ouj.2_Frame_Shift_Del_p.Y444fs|VCAM1_uc001dtj.3_Frame_Shift_Del_p.Y414fs	NM_001078	NP_001069	P19320	VCAM1_HUMAN	Homo sapiens vascular cell adhesion molecule 1 (VCAM1), transcript variant 1, mRNA.	506	Ig-like C2-type 5.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	GCAAACACTTTATGTCAATGGT	0.366													-	101197066	TA	-	101197065	7	5	11	1	0	1	0	1	0	0	0	0	17239	1754	61	0	1538	0	VCAM1	1	101197065	Frame_Shift_Del	DEL	TA	TCGA-06-0124-01A-01D-1490-08	58452842	101197065	148053556	4	727											
IGSF3	3321	broad.mit.edu	37	chr1	117159063	117159063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaacggtgacctgccgCtgtgctgacaccacacctac	8	8	9	16	2	0	3	0	3	0	0	1	3	1	3	5	1	4	2	5	1	2	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:117159063C>T	uc001egq.1	-	2	765	c.60G>A	c.(58-60)caG>caA	p.Q20Q	IGSF3_uc001egr.1_Silent_p.Q20Q	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	20	Ig-like C2-type 1.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		TGACCTGCCGCTGTGCTGACA	0.527													T	117159063	C	T	117159063	2	4	11	1	0	0	0	0	0	0	0	1	7659	796	28	2		2	IGSF3	1	117159063	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	15961998	117159063	132091558	5	728											
FLG	2312	broad.mit.edu	37	chr1	152275657	152275657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatcgcggtgagaggatccgGggtgtctggagccatctctt	6	11	15	9	3	2	1	0	1	2	1	5	4	3	3	2	5	1	0	2	5	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:152275657G>T	uc001ezu.1	-	2	11741	c.11705C>A	c.(11704-11706)cCc>cAc	p.P3902H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGGATCCGGGGTGTCTGGA	0.512									Ichthyosis				T	152275657	G	T	152275657	3	4	11	1	0	0	0	0	1	0	0	0	5971	1232	43	4	484	4	FLG	1	152275657	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	35116594	152275657	96974964	6	729											
SELE	6401	broad.mit.edu	37	chr1	169698774	169698774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttttggaaacattccacGaacccattggctggatttgt	9	13	11	8	1	0	0	0	0	0	0	1	3	1	2	2	4	2	2	2	4	2	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr1:169698774G>A	uc001ggm.4	-	5	913	c.756C>T	c.(754-756)ttC>ttT	p.F252F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	252	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.F252F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACATTCCACGAACCCATTGG	0.428													A	169698774	G	A	169698774	2	1	11	1	0	0	0	0	0	0	0	1	14106	1049	37	1		1	SELE	1	169698774	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	17423117	169698774	79551847	7	730											
APOB	338	broad.mit.edu	37	chr2	21239331	21239331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaggtggcccatgagggcGacctcagtaattttcttgtt	7	14	11	9	1	2	1	1	1	1	0	2	2	2	1	2	3	0	2	2	3	2	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:21239331G>A	uc002red.3	-	20	3440	c.3312C>T	c.(3310-3312)gtC>gtT	p.V1104V		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1104					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CCATGAGGGCGACCTCAGTAA	0.478													A	21239331	G	A	21239331	2	1	11	1	0	0	0	0	0	0	0	1	788	1045	37	1		1	APOB	2	21239331	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		21239331	221960042	8	731											
CD207	50489	broad.mit.edu	37	chr2	71058942	71058942	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccccccgctgttttataCagaaactcctgtaggaaaga	12	10	8	11	1	0	2	0	0	0	2	2	3	2	3	4	1	2	3	4	1	5	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:71058942C>G	uc002shg.3	-	4	773	c.726G>C	c.(724-726)ctG>ctC	p.L242L		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	242	C-type lectin.				defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGTTTTATACAGAAACTCCT	0.537													G	71058942	C	G	71058942	2	3	11	1	0	0	0	0	0	0	0	1	3013	465	17	4		4	CD207	2	71058942	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	49819611	71058942	172140431	9	732											
ZAP70	7535	broad.mit.edu	37	chr2	98351172	98351172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcgtgtaccgcatgcGcaagtatggccgcccctgcc	6	6	13	16	4	0	0	0	0	0	0	0	0	0	0	6	2	3	4	6	2	3	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:98351172G>A	uc002syd.1	+	8	1286	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.R250H|ZAP70_uc002syf.1_Missense_Mutation_p.R53H	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	360	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TACCGCATGCGCAAGTATGGC	0.637													A	98351172	G	A	98351172	3	1	11	1	0	0	0	0	1	0	0	0	17616	1087	38	1	1105	1	ZAP70	2	98351172	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	27292230	98351172	144848201	10	733											
MYO7B	4648	broad.mit.edu	37	chr2	128342397	128342399	+	In_Frame_Del	DEL	CAA	CAA	-																															aagctgaacagcgtccatgcCaacaacaaggccttcctaca																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr2:128342397_128342399delCAA	uc002top.3	+	13	1652_1654	c.1599_1601delCAA	c.(1597-1602)gccaac>gcc	p.N535del		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	535	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GCGTCCATGCCAACAACAAGGCC	0.571													-	128342399	CAA	-	128342397	7	5	11	1	0	1	0	1	0	0	0	0	10159	581	21	0	1649	0	MYO7B	2	128342397	In_Frame_Del	DEL	CAA	TCGA-06-0124-01A-01D-1490-08	29991225	128342397	114856976	11	734											
MORC1	27136	broad.mit.edu	37	chr3	108754309	108754309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaaacaatgttaaatttCtattatcttttaaaaaaaaa	20	15	2	4	0	2	0	0	0	2	0	2	0	2	0	0	0	2	2	0	0	12	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr3:108754309C>T	uc003dxl.3	-	14	1424	c.1337G>A	c.(1336-1338)aGa>aAa	p.R446K	MORC1_uc011bhn.2_Missense_Mutation_p.R446K	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	446					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTTAAATTTCTATTATCTTT	0.279													T	108754309	C	T	108754309	3	4	11	1	0	0	0	0	1	0	0	0	9777	913	32	2	1673	2	MORC1	3	108754309	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08		108754309	89268121	12	735											
SEPSECS	51091	broad.mit.edu	37	chr4	25125641	25125641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacatcttcagttttgtcaTaattgtcatcactctcttta	9	18	3	11	0	6	0	4	0	2	0	7	0	6	0	1	0	0	1	1	0	2	7			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25125641T>C	uc003grg.3	-	10	1631	c.1418A>G	c.(1417-1419)tAt>tGt	p.Y473C	SEPSECS_uc003gri.3_Missense_Mutation_p.Y472C|SEPSECS_uc003grh.3_Missense_Mutation_p.Y394C	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	473					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AGTTTTGTCATAATTGTCATC	0.378													C	25125641	T	C	25125641	3	2	11	1	0	0	0	0	1	0	0	0	14151	1406	49	3	91	3	SEPSECS	4	25125641	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08		25125641	166028635	13	736											
SLC34A2	10568	broad.mit.edu	37	chr4	25664233	25664236	+	Splice_Site	DEL	AAGT	AAGT	-																															aaaagcaaagagaccaacaaAagtaagtgtcgctcgtttgt																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:25664233_25664236delAAGT	uc003grr.3	+	2	193	c.112_splice	c.e2+1	p.T38_splice	SLC34A2_uc003grs.3_Splice_Site_p.N38_splice|SLC34A2_uc010iev.3_Splice_Site_p.N38_splice	NM_006424	NP_006415	O95436	NPT2B_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 2 (SLC34A2), transcript variant 1, mRNA.	38					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				AGACCAACAAAAGTAAGTGTCGCT	0.534			T	ROS1	NSCLC								-	25664236	AAGT	-	25664233	8	5	11	1	0	1	0	1	0	0	1	0	14662	28	1	0	113	0	SLC34A2	4	25664233	Splice_Site	DEL	AAGT	TCGA-06-0124-01A-01D-1490-08	538592	25664233	165490043	14	737											
RBM47	54502	broad.mit.edu	37	chr4	40440818	40440818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgccagcagtgctgcctcGttgggcgcgcccgccacgcc	4	5	14	18	6	0	0	0	0	0	0	1	0	0	0	5	1	4	3	5	1	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:40440818G>A	uc003gvc.2	-	3	803	c.93C>T	c.(91-93)aaC>aaT	p.N31N	RBM47_uc003gvd.2_Silent_p.N31N|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Intron|RBM47_uc003gvg.1_Silent_p.N31N	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	31						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTGCTGCCTCGTTGGGCGCGC	0.697													A	40440818	G	A	40440818	2	1	11	1	0	0	0	0	0	0	0	1	13229	1136	40	1		1	RBM47	4	40440818	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	14776585	40440818	150713458	15	738											
ADAM29	11086	broad.mit.edu	37	chr4	175896931	175896931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtgttcacctacacagaCcagggtgctatccttgagga	9	10	10	12	0	1	2	1	1	0	1	2	3	2	3	4	2	2	2	4	2	2	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr4:175896931C>T	uc003iuc.3	+	4	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D	ADAM29_uc003iud.3_Silent_p.D85D|ADAM29_uc010irr.3_Silent_p.D85D|ADAM29_uc011cki.2_Silent_p.D85D|ADAM29_uc021xuo.1_Silent_p.D85D	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	85					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.D85E(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CCTACACAGACCAGGGTGCTA	0.473													T	175896931	C	T	175896931	2	4	11	1	0	0	0	0	0	0	0	1	247	506	18	2		2	ADAM29	4	175896931	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	135456113	175896931	15257345	16	739											
SLC6A19	340024	broad.mit.edu	37	chr5	1208942	1208942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcgccatcgggcagcGgctgcggcggggcagcctgg	4	5	20	12	5	0	0	0	0	0	0	2	1	0	1	2	7	3	4	2	7	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:1208942G>A	uc003jbw.4	+	1	340	c.284G>A	c.(283-285)cGg>cAg	p.R95Q		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	95					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATCGGGCAGCGGCTGCGGCGG	0.677													A	1208942	G	A	1208942	3	1	11	1	0	0	0	0	1	0	0	0	14776	1116	39	1	290	1	SLC6A19	5	1208942	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		1208942	179706318	17	740											
BASP1	10409	broad.mit.edu	37	chr5	17275409	17275409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacaagaaggccgagggCgcggcgacggaagaggaggg	14	0	20	7	5	0	3	0	0	0	3	0	7	0	5	1	6	0	0	1	6	4	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:17275409C>T	uc003jfx.3	+	1	263	c.84C>T	c.(82-84)ggC>ggT	p.G28G	BASP1_uc021xws.1_Silent_p.G28G	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	28					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGGCCGAGGGCGCGGCGACGG	0.627													T	17275409	C	T	17275409	2	4	11	1	0	0	0	0	0	0	0	1	1322	755	27	1		1	BASP1	5	17275409	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	16066467	17275409	163639851	18	741											
HCN1	348980	broad.mit.edu	37	chr5	45262205	45262205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgggacagtgctcctgcCccctgcctgaaggcccgttc	4	8	12	17	2	0	1	0	1	0	0	2	2	1	2	5	2	4	2	5	2	1	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:45262205C>A	uc003jok.3	-	7	2516	c.2491G>T	c.(2491-2493)Ggc>Tgc	p.G831C		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	831						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTGCTCCTGCCCCCTGCCTGA	0.677													A	45262205	C	A	45262205	3	1	11	1	0	0	0	0	1	0	0	0	7051	623	22	4	185	4	HCN1	5	45262205	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	27986796	45262205	135653055	19	742											
VCAN	1462	broad.mit.edu	37	chr5	82808046	82808046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcatggaggaacggcttTgaccagtgcgattacgggtg	8	8	17	8	4	0	1	0	1	0	0	0	4	0	3	1	5	3	2	1	5	2	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:82808046T>A	uc003kii.3	+	5	1229	c.873T>A	c.(871-873)ttT>ttA	p.F291L	VCAN_uc003kij.3_Missense_Mutation_p.F291L|VCAN_uc010jau.2_Missense_Mutation_p.F291L|VCAN_uc003kik.3_Missense_Mutation_p.F291L|VCAN_uc003kih.4_Missense_Mutation_p.F291L	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	291	Link 2.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.G290S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GGAACGGCTTTGACCAGTGCG	0.602													A	82808046	T	A	82808046	3	1	11	1	0	0	0	0	1	0	0	0	17240	1809	63	5	891	5	VCAN	5	82808046	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	37545841	82808046	98107214	20	743											
RAPGEF6	96459	broad.mit.edu	37	chr5	131042146	131042146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacttgttgtttggctgCgtcgccaacgtcgctggtag	6	12	12	11	4	0	0	0	0	0	0	2	0	0	0	2	2	3	5	2	2	3	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:131042146C>T	uc003kvs.1	-	8	1014	c.872G>A	c.(871-873)cGc>cAc	p.R291H	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Missense_Mutation_p.R263H|RAPGEF6_uc010jdm.1_Missense_Mutation_p.R246H|RAPGEF6_uc003kvu.3_Missense_Mutation_p.R291H	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TGTTTGGCTGCGTCGCCAACG	0.438													T	131042146	C	T	131042146	3	4	11	1	0	0	0	0	1	0	0	0	13136	768	27	1		1	RAPGEF6	5	131042146	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	48234100	131042146	49873114	21	744											
PCDHAC2	56137	broad.mit.edu	37	chr5	140256419	140256419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgacaatgcgcctgcGttcgcgcagcccgagtacac	9	6	12	14	6	0	1	0	1	0	0	1	3	0	1	2	0	5	3	2	0	3	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:140256419G>A	uc003lic.2	+	0	1489	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A454A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCGCCTGCGTTCGCGCAGC	0.652													A	140256419	G	A	140256419	2	1	11	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140256419	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	9214273	140256419	40658841	22	745											
JAKMIP2	9832	broad.mit.edu	37	chr5	147040668	147040668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttggccgttttcaggtccGcaatttcctgtaagagctta	7	15	9	10	2	2	1	1	0	1	1	4	1	4	1	3	2	1	4	3	2	3	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:147040668G>A	uc010jgo.1	-	1	618	c.470C>T	c.(469-471)gCg>gTg	p.A157V	JAKMIP2_uc003loq.1_Missense_Mutation_p.A157V|JAKMIP2_uc011dbx.1_Missense_Mutation_p.A115V|JAKMIP2_uc003lor.1_Missense_Mutation_p.A157V|LOC153469_uc003lop.1_3'UTR	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	157						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTCAGGTCCGCAATTTCCTG	0.542													A	147040668	G	A	147040668	3	1	11	1	0	0	0	0	1	0	0	0	7999	1087	38	1	2038	1	JAKMIP2	5	147040668	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	6784249	147040668	33874592	23	746											
COL23A1	91522	broad.mit.edu	37	chr5	177690250	177690250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggccatctttcccagtgtCgccaggagggccccgggccc	4	6	15	16	2	1	0	0	0	1	0	3	1	2	1	6	5	0	0	6	5	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr5:177690250C>T	uc021yiz.1	-	8	956	c.598G>A	c.(598-600)Gac>Aac	p.D200N	COL23A1_uc021yiy.1_5'UTR|COL23A1_uc010jkt.2_Silent_p.A47A	NM_173465	NP_775736	Q86Y22	CONA1_HUMAN	Homo sapiens collagen, type XXIII, alpha 1 (COL23A1), mRNA.	200	Collagen-like 1.|Gly-rich.					collagen|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(89;0.00188)|Renal(175;0.000159)|Lung NSC(126;0.00814)|all_lung(126;0.0129)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.153)|all cancers(165;0.172)		TTCCCAGTGTCGCCAGGAGGG	0.637													T	177690250	C	T	177690250	3	4	11	1	0	0	0	0	1	0	0	0	3713	884	31	1	1108	1	COL23A1	5	177690250	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	30649582	177690250	3225010	24	747											
RNF8	9025	broad.mit.edu	37	chr6	37336605	37336605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaggggaaaggtgaagtgGccagtacaccctctgacaat	13	6	12	10	0	1	2	0	2	1	0	1	3	1	3	2	4	1	1	2	4	4	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:37336605G>A	uc003onq.4	+	2	779	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	RNF8_uc003onr.4_Missense_Mutation_p.A196T|RNF8_uc011dtx.2_Missense_Mutation_p.A128T	NM_003958	NP_003949	O76064	RNF8_HUMAN	Homo sapiens ring finger protein 8 (RNF8), transcript variant 1, mRNA.	196					cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						AGGTGAAGTGGCCAGTACACC	0.483													A	37336605	G	A	37336605	3	1	11	1	0	0	0	0	1	0	0	0	13591	1203	42	2	596	2	RNF8	6	37336605	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		37336605	133778462	25	748											
PEX6	5190	broad.mit.edu	37	chr6	42937419	42937419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcaccctggctggaggcGaggcttcaggacagcacaga	10	5	13	13	1	2	1	2	0	0	1	2	4	2	3	1	5	1	3	1	5	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:42937419G>A	uc003otf.3	-	4	1447	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	PEX6_uc010jya.3_Non-coding_Transcript	NM_000287	NP_000278	Q13608	PEX6_HUMAN	Homo sapiens peroxisomal biogenesis factor 6 (PEX6), mRNA.	452					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding	p.R452H(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			GGCTGGAGGCGAGGCTTCAGG	0.567													A	42937419	G	A	42937419	3	1	11	1	0	0	0	0	1	0	0	0	11827	1058	37	1	1640	1	PEX6	6	42937419	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	5600814	42937419	128177648	26	749											
RFX6	222546	broad.mit.edu	37	chr6	117243268	117243268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatgccactgtggaggCttttattgaatggttggata	11	13	13	4	0	0	2	0	1	0	1	0	5	0	4	1	4	1	2	1	4	5	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:117243268C>A	uc003pxm.3	+	12	1454	c.1391C>A	c.(1390-1392)gCt>gAt	p.A464D		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	464					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACTGTGGAGGCTTTTATTGAA	0.338													A	117243268	C	A	117243268	3	1	11	1	0	0	0	0	1	0	0	0	13355	797	28	4	1441	4	RFX6	6	117243268	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	74305849	117243268	53871799	27	750											
PTPRK	5796	broad.mit.edu	37	chr6	128388894	128388894	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctccggcttctctctTggttcggtgtgggtgcagtt	2	15	14	10	2	2	0	0	0	2	0	5	0	3	0	1	5	1	5	1	5	0	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr6:128388894T>C	uc003qbk.3	-	11	2294	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	PTPRK_uc010kfc.3_Missense_Mutation_p.K643E|PTPRK_uc003qbj.3_Missense_Mutation_p.K643E|PTPRK_uc011ebu.2_Missense_Mutation_p.K643E|PTPRK_uc003qbl.1_Missense_Mutation_p.K513E|PTPRK_uc011ebv.1_Missense_Mutation_p.K643E	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	643	Fibronectin type-III 4.	Cleavage (Probable).			cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCTTCTCTCTTGGTTCGGTGT	0.448													C	128388894	T	C	128388894	3	2	11	1	0	0	0	0	1	0	0	0	12893	1821	63	3	2493	3	PTPRK	6	128388894	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	11145626	128388894	42726173	28	751											
TYW1B	441250	broad.mit.edu	37	chr7	72093938	72093938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcctggagctcgtccacGttccatgctttcacgagcat	7	11	10	13	3	1	0	1	0	0	0	4	2	3	1	3	2	3	4	3	2	1	3	rs149299985	by1000genomes	TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:72093938G>A	uc011kej.2	-	13	1707	c.1548C>T	c.(1546-1548)aaC>aaT	p.N516N	TYW1B_uc011keh.1_Silent_p.N354N|TYW1B_uc011kei.2_Silent_p.N143N	NM_001145440	NP_001138912	Q6NUM6	TYW1B_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae) (TYW1B), transcript variant 1, mRNA.	517					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GCTCGTCCACGTTCCATGCTT	0.522													A	72093938	G	A	72093938	2	1	11	1	0	0	0	0	0	0	0	1	16921	1136	40	1		1	TYW1B	7	72093938	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		72093938	87044725	29	752											
ABCB4	5244	broad.mit.edu	37	chr7	87104766	87104766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggctgttccgttctttgCcgcctcaagatccatctcag	6	12	8	15	2	3	1	2	0	2	1	6	1	5	1	5	1	1	3	5	1	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:87104766C>T	uc003uiv.1	-	1	92	c.16G>A	c.(16-18)Gca>Aca	p.A6T	ABCB4_uc003uiw.1_Missense_Mutation_p.A6T|ABCB4_uc003uix.1_Missense_Mutation_p.A6T|ABCB4_uc003uiy.3_Missense_Mutation_p.A6T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	6					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCGTTCTTTGCCGCCTCAAGA	0.647													T	87104766	C	T	87104766	3	4	11	1	0	0	0	0	1	0	0	0	43	739	26	2	3952	2	ABCB4	7	87104766	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	15010828	87104766	72033897	30	753											
ZAN	7455	broad.mit.edu	37	chr7	100373053	100373053	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgtcctggtgaaagtgtgCcaccccgccatggccttgcc	5	10	11	15	1	0	1	0	1	0	0	1	1	1	1	7	2	2	0	7	2	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100373053C>T	uc003uwj.3	+	32	6045	c.5880C>T	c.(5878-5880)tgC>tgT	p.C1960C	ZAN_uc003uwk.3_Silent_p.C1960C|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.C48C	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1961	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGAAAGTGTGCCACCCCGCCA	0.547													T	100373053	C	T	100373053	2	4	11	1	0	0	0	0	0	0	0	1	17615	747	26	2		2	ZAN	7	100373053	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	13268287	100373053	58765610	31	754											
MUC17	140453	broad.mit.edu	37	chr7	100681607	100681607	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccctttcaacaactcctGttgactccaacactcctttc	9	12	3	17	0	1	1	1	1	0	0	5	1	4	1	4	0	3	2	4	0	3	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:100681607G>C	uc003uxp.1	+	2	6963	c.6910G>C	c.(6910-6912)Gtt>Ctt	p.V2304L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2304	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)					AACAACTCCTGTTGACTCCAA	0.473													C	100681607	G	C	100681607	3	2	11	1	0	0	0	0	1	0	0	0	10050	1377	48	4	6920	4	MUC17	7	100681607	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	308554	100681607	58457056	32	755											
RELN	5649	broad.mit.edu	37	chr7	103130205	103130205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccttggaagctctcgtcGcagatgcagatggcaccggt	9	8	13	11	3	1	3	0	0	1	3	3	4	1	4	2	3	2	4	2	3	1	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr7:103130205G>A	uc022ajr.1	-	59	9907	c.9747C>T	c.(9745-9747)tgC>tgT	p.C3249C	RELN_uc022ajq.1_Silent_p.C3249C|RELN_uc010liz.3_Silent_p.C3249C	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3249	EGF-like 8.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGCTCTCGTCGCAGATGCAGA	0.517													A	103130205	G	A	103130205	2	1	11	1	0	0	0	0	0	0	0	1	13308	1079	38	1		1	RELN	7	103130205	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	2448598	103130205	56008458	33	756											
ADAM7	8756	broad.mit.edu	37	chr8	24365011	24365012	+	Missense_Mutation	DNP	TC	TC	AA																															agaaacctgcaagtaaagatTcaagaggaatcgcagatccc																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:24365011_24365012TC>AA	uc003xeb.3	+	20	2340_2341	c.2227_2228TC>AA	c.(2227-2229)tca>AAa	p.S743K	ADAM7_uc003xec.3_Intron	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	743					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.D742Y(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAGTAAAGATTCAAGAGGAATC	0.396													AA	24365012	TC	AA	24365011	3	1	11	1	0	0	0	0	1	0	0	0	251	1783	62	5	2309	5	ADAM7	8	24365011	Missense_Mutation	DNP	TC	TCGA-06-0124-01A-01D-1490-08		24365011	121999011	34	757											
DOCK5	80005	broad.mit.edu	37	chr8	25158172	25158172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacctccaagcagtgtttaCagtaagtcctcccttctgtt	9	14	6	12	0	1	0	0	0	1	0	4	0	4	0	4	0	3	4	4	0	4	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25158172C>G	uc003xeg.3	+	9	983	c.846_splice	c.e9+1	p.T282_splice	DOCK5_uc010luf.1_Splice_Site|DOCK5_uc003xeh.1_Intron|DOCK5_uc003xef.3_Splice_Site_p.T282_splice	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	282						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCAGTGTTTACAGTAAGTCCT	0.363													G	25158172	C	G	25158172	3	3	11	1	0	0	0	0	1	0	0	0	4729	492	17	4	879	4	DOCK5	8	25158172	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	793161	25158172	121205850	35	758											
EBF2	64641	broad.mit.edu	37	chr8	25715990	25715990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggaagagtatccccgcGgagagatgctgcttgtgttg	8	10	15	8	2	0	2	0	0	0	2	1	5	1	4	2	2	3	5	2	2	2	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:25715990G>A	uc003xes.2	-	13	1638	c.1373C>T	c.(1372-1374)cCg>cTg	p.P458L	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	458	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.P458L(3)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		GTATCCCCGCGGAGAGATGCT	0.522													A	25715990	G	A	25715990	3	1	11	1	0	0	0	0	1	0	0	0	4920	1116	39	1	366	1	EBF2	8	25715990	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	557818	25715990	120648032	36	759											
TRPA1	8989	broad.mit.edu	37	chr8	72948651	72948651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcccgtcgtgtagataatCcattcaagaacattgcttat	12	13	7	9	2	1	2	1	0	0	2	3	2	2	2	2	0	3	2	2	0	5	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:72948651C>A	uc003xza.3	-	20	2602	c.2427G>T	c.(2425-2427)tgG>tgT	p.W809C	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	809						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGTAGATAATCCATTCAAGAA	0.363													A	72948651	C	A	72948651	3	1	11	1	0	0	0	0	1	0	0	0	16678	856	30	4	960	4	TRPA1	8	72948651	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	47232661	72948651	73415371	37	760											
RIMS2	9699	broad.mit.edu	37	chr8	104930679	104930679	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttcagagatataccgCgaatacctgatagcacacat	15	10	6	10	2	2	2	2	1	0	1	2	4	2	2	2	0	3	1	2	0	5	5			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:104930679C>T	uc003yls.3	+	6	1622	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R683*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R491*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R491*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R538*|RIMS2_uc003ylt.3_Nonsense_Mutation_p.R84*|RIMS2_uc003ylu.1_Nonsense_Mutation_p.R74*|RIMS2_uc003ylv.1_Nonsense_Mutation_p.R74*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	761					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AGATATACCGCGAATACCTGA	0.299										HNSCC(12;0.0054)			T	104930679	C	T	104930679	4	4	11	1	0	0	0	0	0	1	0	0	13459	760	27	1	2207	1	RIMS2	8	104930679	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	31982028	104930679	41433343	38	761											
RIMS2	9699	broad.mit.edu	37	chr8	105264036	105264036	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcaactggaccttcttaCtctcgttcatagcagctgta	9	14	7	11	1	4	0	2	0	2	0	5	1	4	1	1	1	4	5	1	1	4	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr8:105264036C>A	uc003yls.3	+	27	4333	c.4092C>A	c.(4090-4092)taC>taA	p.Y1364*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.Y1346*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.Y1160*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.Y1185*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1408					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GACCTTCTTACTCTCGTTCAT	0.423										HNSCC(12;0.0054)			A	105264036	C	A	105264036	4	1	11	1	0	0	0	0	0	1	0	0	13459	576	20	4	4328	4	RIMS2	8	105264036	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	333357	105264036	41099986	39	762											
SMARCA2	6595	broad.mit.edu	37	chr9	2039586	2039586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgggggccctcatcccagGtgatccgcaggccatgagcc	6	5	14	16	2	1	2	1	2	0	0	3	2	3	2	6	4	1	1	6	4	0	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:2039586G>A	uc003zhc.3	+	3	575	c.476G>A	c.(475-477)gGt>gAt	p.G159D	SMARCA2_uc003zhd.3_Missense_Mutation_p.G159D|SMARCA2_uc010mha.3_Missense_Mutation_p.G150D	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	159					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTCATCCCAGGTGATCCGCAG	0.582													A	2039586	G	A	2039586	3	1	11	1	0	0	0	0	1	0	0	0	14863	1261	44	2	486	2	SMARCA2	9	2039586	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		2039586	139173845	40	763											
VCP	7415	broad.mit.edu	37	chr9	35059646	35059647	+	Frame_Shift_Ins	INS	-	-	T																															tagcgccaatgatgaacacaINStttttttttgtggacatgcc																										TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:35059646_35059647insT	uc003zvy.2	-	13	2236_2237	c.1847_1848insA	c.(1846-1848)aatfs	p.N616fs	VCP_uc010mkh.1_Frame_Shift_Ins_p.N285fs|VCP_uc010mki.1_Frame_Shift_Ins_p.N571fs	NM_007126	NP_009057	P55072	TERA_HUMAN	Homo sapiens valosin containing protein (VCP), mRNA.	616					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding	p.N616fs*63(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGATGAACACATTTTTTTTTGT	0.515													T	35059647	-	T	35059646	7	5	11	1	0	1	1	0	0	0	0	0	17242	214	8	0	588	0	VCP	9	35059646	Frame_Shift_Ins	INS	-	TCGA-06-0124-01A-01D-1490-08	33020060	35059646	106153785	41	764											
DAB2IP	153090	broad.mit.edu	37	chr9	124535257	124535257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacctccgagggcgcgcCaggccggccccagctgttgg	5	4	16	16	4	0	0	0	0	0	0	1	1	1	0	6	5	1	3	6	5	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:124535257C>T	uc004bln.3	+	11	2435	c.2366C>T	c.(2365-2367)cCa>cTa	p.P789L	DAB2IP_uc004blo.3_Missense_Mutation_p.P693L|DAB2IP_uc004blp.3_Missense_Mutation_p.P222L	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	817					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GAGGGCGCGCCAGGCCGGCCC	0.726													T	124535257	C	T	124535257	3	4	11	1	0	0	0	0	1	0	0	0	4253	594	21	2	2412	2	DAB2IP	9	124535257	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	89475611	124535257	16678174	42	765											
RBM18	92400	broad.mit.edu	37	chr9	125004210	125004210	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatatggagtagtcctttTtttatctggtggcttaaagt	10	17	10	4	0	1	1	0	0	1	1	2	2	2	2	1	3	0	2	1	3	6	7			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004210T>A	uc004bma.2	-	5	692	c.526A>T	c.(526-528)Aaa>Taa	p.K176*	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	176							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						GTAGTCCTTTTTTTATCTGGT	0.398													A	125004210	T	A	125004210	4	1	11	1	0	0	0	0	0	1	0	0	13208	1850	64	5	50	5	RBM18	9	125004210	Nonsense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	468953	125004210	16209221	43	766			1	2		2	2	18	N	T_A	4.063653e-05
RBM18	92400	broad.mit.edu	37	chr9	125004227	125004227	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttatctggtggcttaAagtaggaataaacaggcgct	11	15	10	5	1	1	0	0	0	1	0	1	1	1	1	0	4	1	3	0	4	7	7	rs111532590		TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr9:125004227A>C	uc004bma.2	-	5	675	c.509T>G	c.(508-510)tTt>tGt	p.F170C	RBM18_uc004blz.2_Non-coding_Transcript|RBM18_uc010mvy.2_Non-coding_Transcript|RBM18_uc011lyp.1_Non-coding_Transcript	NM_033117	NP_149108	Q96H35	RBM18_HUMAN	Homo sapiens RNA binding motif protein 18 (RBM18), transcript variant 1, mRNA.	170							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)	7						TGGTGGCTTAAAGTAGGAATA	0.403													C	125004227	A	C	125004227	3	2	11	1	0	0	0	0	1	0	0	0	13208	14	1	5	67	5	RBM18	9	125004227	Missense_Mutation	SNP	A	TCGA-06-0124-01A-01D-1490-08	17	125004227	16209204	44	767			1	2		2	2	18	N	T_A	4.063653e-05
CCNY	219771	broad.mit.edu	37	chr10	35819172	35819172	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtgccatcgtcaccctgGtgagtgccctcaggatggcc	7	9	12	13	1	2	1	2	1	0	0	3	2	2	2	4	3	2	0	4	3	1	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:35819172G>A	uc001iyw.4	+	7	759	c.579_splice	c.e7+1	p.L193_splice	CCNY_uc001iyu.4_Splice_Site_p.L139_splice|CCNY_uc001iyv.4_Splice_Site_p.L139_splice|CCNY_uc001iyx.4_Splice_Site_p.L139_splice|CCNY_uc009xmb.3_Splice_Site_p.L168_splice|CCNY_uc010qet.2_Splice_Site_p.L60_splice	NM_145012	NP_859049	Q8ND76	CCNY_HUMAN	Homo sapiens cyclin Y (CCNY), transcript variant 1, mRNA.	193	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						CGTCACCCTGGTGAGTGCCCT	0.577													A	35819172	G	A	35819172	5	1	11	1	0	0	0	0	0	0	1	0	2966	1275	44	2	606	2	CCNY	10	35819172	Splice_Site	SNP	G	TCGA-06-0124-01A-01D-1490-08		35819172	99715575	45	768											
PTEN	5728	broad.mit.edu	37	chr10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcacttttgggtaaataCattcttcataccaggaccag	11	14	7	9	0	3	0	2	0	1	0	3	1	3	1	2	2	2	2	2	2	4	8			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:89720679C>T	uc001kfb.3	+	7	1862	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	277	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T277I(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277fs*13(1)|p.N276K(1)|p.T277A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGTAAATACATTCTTCATA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720679	C	T	89720679	3	4	11	1	0	0	0	0	1	0	0	0	12823	478	17	2	860	2	PTEN	10	89720679	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	53901507	89720679	45814068	46	769											
HPS6	79803	broad.mit.edu	37	chr10	103827534	103827534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggaccccagcactccacCcccgactccacctcgggacc	8	4	8	21	2	0	0	0	0	0	0	3	3	2	2	8	2	1	1	8	2	0	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr10:103827534C>T	uc001kuj.3	+	0	2411	c.2303C>T	c.(2302-2304)cCc>cTc	p.P768L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	768						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AGCACTCCACCCCCGACTCCA	0.592									Hermansky-Pudlak syndrome				T	103827534	C	T	103827534	3	4	11	1	0	0	0	0	1	0	0	0	7398	623	22	2	2305	2	HPS6	10	103827534	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	14106855	103827534	31707213	47	770											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643000	1643000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggagccacagcccccCttggagcccccacaggagcc	9	2	10	20	0	0	0	0	0	0	0	0	3	0	3	8	3	4	0	8	3	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:1643000C>T	uc009ycy.1	-	1	306	c.219G>A	c.(217-219)aaG>aaA	p.K73K	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	168	9 X 4 AA repeats of C-C-X-P.					keratin filament		p.S73S(1)		NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CACAGCCCCCCTTGGAGCCCC	0.682													T	1643000	C	T	1643000	2	4	11	1	0	0	0	0	0	0	0	1	8622	680	24	2		2	KRTAP5-4	11	1643000	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08		1643000	133363516	48	771											
NAP1L4	4676	broad.mit.edu	37	chr11	2975821	2975821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgggactatccgctcaCggaaaaagtgtccaatttca	11	8	9	13	4	2	0	2	0	0	0	4	2	4	2	3	2	0	1	3	2	4	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:2975821C>T	uc010qxm.2	-	12	1255	c.971G>A	c.(970-972)cGt>cAt	p.R324H	NAP1L4_uc001lxb.3_5'Flank|NAP1L4_uc001lxc.3_Missense_Mutation_p.R324H|NAP1L4_uc010qxn.2_Missense_Mutation_p.R324H	NM_005969	NP_005960	Q99733	NP1L4_HUMAN	Homo sapiens nucleosome assembly protein 1-like 4 (NAP1L4), mRNA.	324					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		TATCCGCTCACGGAAAAAGTG	0.473													T	2975821	C	T	2975821	3	4	11	1	0	0	0	0	1	0	0	0	10235	536	19	1	172	1	NAP1L4	11	2975821	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	1332821	2975821	132030695	49	772											
OR52K1	390036	broad.mit.edu	37	chr11	4510426	4510426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcaacttctttgcctGtctggtccagatgttcttcc	6	15	9	11	0	4	2	1	0	3	2	6	3	6	2	3	2	2	1	3	2	1	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:4510426G>C	uc001lza.2	+	0	318	c.296G>C	c.(295-297)tGt>tCt	p.C99S		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		TTCTTTGCCTGTCTGGTCCAG	0.502													C	4510426	G	C	4510426	3	2	11	1	0	0	0	0	1	0	0	0	11199	1377	48	4	298	4	OR52K1	11	4510426	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	1534605	4510426	130496090	50	773											
HTR3A	3359	broad.mit.edu	37	chr11	113856764	113856764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaacatctctttgtggcGcttgccagaaaaggtgaaat	12	11	9	9	1	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	4	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:113856764G>A	uc010rxb.2	+	5	823	c.590G>A	c.(589-591)cGc>cAc	p.R197H	HTR3A_uc010rxa.2_Missense_Mutation_p.R197H|HTR3A_uc009yyx.3_Intron|HTR3A_uc010rxc.2_Missense_Mutation_p.R176H	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191H(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCTTTGTGGCGCTTGCCAGAA	0.522													A	113856764	G	A	113856764	3	1	11	1	0	0	0	0	1	0	0	0	7502	1087	38	1	638	1	HTR3A	11	113856764	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	109346338	113856764	21149752	51	774											
AMICA1	120425	broad.mit.edu	37	chr11	118074267	118074267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagcatgatggaaccGtcattgcggaaaatgtcccc	11	9	10	11	2	1	2	1	2	0	0	2	4	2	4	4	2	3	1	4	2	4	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr11:118074267G>A	uc001psk.2	-	5	822	c.648C>T	c.(646-648)gaC>gaT	p.D216D	AMICA1_uc001psg.2_Silent_p.D26D|AMICA1_uc001psh.2_Silent_p.D177D|AMICA1_uc009yzw.1_Non-coding_Transcript|AMICA1_uc001psi.2_Silent_p.D206D|AMICA1_uc010rxw.1_Silent_p.D177D|AMICA1_uc010rxx.1_Silent_p.D216D|AMICA1_uc001psl.1_Silent_p.D172D	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.	216	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TGATGGAACCGTCATTGCGGA	0.512													A	118074267	G	A	118074267	2	1	11	1	0	0	0	0	0	0	0	1	574	1136	40	1		1	AMICA1	11	118074267	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08	4217503	118074267	16932249	52	775											
LPAR5	57121	broad.mit.edu	37	chr12	6729601	6729601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccgcgcacgcgatcgcGggcaggcacgctggccgcca	6	2	14	19	8	0	0	0	0	0	0	1	1	0	0	4	3	0	4	4	3	0	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:6729601G>A	uc009zer.2	-	1	1095	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	LPAR5_uc001qps.2_Missense_Mutation_p.R272C|LPAR5_uc010sff.1_Missense_Mutation_p.R272C|LPAR5_uc021qub.1_Missense_Mutation_p.R272C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	272						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						ACGCGATCGCGGGCAGGCACG	0.667													A	6729601	G	A	6729601	3	1	11	1	0	0	0	0	1	0	0	0	8978	1116	39	1	308	1	LPAR5	12	6729601	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		6729601	127122294	53	776											
PTPN6	5777	broad.mit.edu	37	chr12	7069104	7069104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagcgccggcatcggccGcacaggcaccatcattgtca	8	5	10	18	4	2	0	2	0	0	0	3	0	2	0	5	3	1	3	5	3	0	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:7069104G>A	uc001qsb.2	+	11	1618	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPN6_uc001qsa.1_Missense_Mutation_p.R461H|PTPN6_uc010sfr.1_Missense_Mutation_p.R420H|PTPN6_uc009zfl.1_Missense_Mutation_p.R459H|PTPN6_uc010sfs.1_Missense_Mutation_p.R447H	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	459	Substrate binding (By similarity).|Tyrosine-protein phosphatase.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						GGCATCGGCCGCACAGGCACC	0.672													A	7069104	G	A	7069104	3	1	11	1	0	0	0	0	1	0	0	0	12880	1087	38	1	1440	1	PTPN6	12	7069104	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	339503	7069104	126782791	54	777											
KLRC2	3823	broad.mit.edu	37	chr12	10573119	10573119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctgggccagactcaCttctgagaaggttcctcttt	6	13	11	11	0	3	2	1	1	2	2	5	3	5	2	3	3	0	1	3	3	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10573119C>A	uc001qyi.1	-	0	76	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_uc001qyf.3_Missense_Mutation_p.V11L|KLRC2_uc021qvc.1_Missense_Mutation_p.V11L|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.V11L	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	11					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GCCAGACTCACTTCTGAGAAG	0.423													A	10573119	C	A	10573119	3	1	11	1	0	0	0	0	1	0	0	0	8474	565	20	4		4	KLRC2	12	10573119	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	3504015	10573119	123278776	55	778											
KLRC2	3823	broad.mit.edu	37	chr12	10588555	10588555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctgggccagactcaCttctgagaaggttcctcttt	6	13	11	11	0	3	2	1	1	2	2	5	3	5	2	3	3	0	1	3	3	1	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:10588555C>A	uc001qyh.3	-	0	38	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	KLRC2_uc010she.1_Missense_Mutation_p.V11L|KLRC2_uc001qyk.2_Missense_Mutation_p.V11L	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	11					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						GCCAGACTCACTTCTGAGAAG	0.423													A	10588555	C	A	10588555	3	1	11	1	0	0	0	0	1	0	0	0	8474	565	20	4	688	4	KLRC2	12	10588555	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	15436	10588555	123263340	56	779											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944924	43944924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccgtaggcagtgaagcGatagtgggttcggaacggca	9	7	16	9	4	0	1	0	1	0	0	1	3	0	2	1	4	3	4	1	4	4	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr12:43944924G>A	uc010skx.2	-	1	241	c.241C>T	c.(241-243)Cgc>Tgc	p.R81C		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	81						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCAGTGAAGCGATAGTGGGTT	0.617													A	43944924	G	A	43944924	3	1	11	1	0	0	0	0	1	0	0	0	266	1058	37	1	5642	1	ADAMTS20	12	43944924	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	33356369	43944924	89906971	57	780											
TTC8	123016	broad.mit.edu	37	chr14	89336533	89336533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagaaatagctctccGgttttacaggtgcacttcac	10	11	8	12	1	3	1	2	0	1	1	4	1	3	1	2	2	4	3	2	2	3	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:89336533G>T	uc010ath.3	+	10	1222	c.1088G>T	c.(1087-1089)cGg>cTg	p.R363L	TTC8_uc001xxi.3_Missense_Mutation_p.R347L|TTC8_uc001xxj.3_Missense_Mutation_p.R337L|TTC8_uc001xxk.3_Missense_Mutation_p.R307L|TTC8_uc001xxl.3_Missense_Mutation_p.R108L|TTC8_uc010ati.3_Missense_Mutation_p.R149L|TTC8_uc010atj.3_Missense_Mutation_p.R82L	NM_198309	NP_938051	Q8TAM2	TTC8_HUMAN	Homo sapiens tetratricopeptide repeat domain 8 (TTC8), transcript variant 2, mRNA.	373					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						ATAGCTCTCCGGTTTTACAGG	0.358													T	89336533	G	T	89336533	3	4	11	1	0	0	0	0	1	0	0	0	16816	1116	39	4	1082	4	TTC8	14	89336533	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		89336533	18013007	58	781											
DIO3	1735	broad.mit.edu	37	chr14	102028704	102028704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcgcacttggttggaaCgctatgatgagcaactgcac	10	9	12	10	2	0	2	0	2	0	0	0	3	0	3	0	2	6	6	0	2	3	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr14:102028704C>T	uc021sdx.1	+	0	1017	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	265					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				TTGGTTGGAACGCTATGATGA	0.592													T	102028704	C	T	102028704	3	4	11	1	0	0	0	0	1	0	0	0	4565	536	19	1	873	1	DIO3	14	102028704	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	12692171	102028704	5320836	59	782											
SEPT12	124404	broad.mit.edu	37	chr16	4836007	4836007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgaatgcagctgcagcGtctggggtgtgggcaccccc	6	8	15	12	1	2	1	1	1	1	0	2	1	2	1	2	3	4	4	2	3	1	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:4836007G>A	uc002cxq.3	-	2	530	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SEPT12_uc002cxr.3_Missense_Mutation_p.T89M|SEPT12_uc010bty.3_Non-coding_Transcript|LOC440335_uc021tcl.1_5'Flank|LOC440335_uc002cxt.3_5'Flank	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	89					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CAGCTGCAGCGTCTGGGGTGT	0.637													A	4836007	G	A	4836007	3	1	11	1	0	0	0	0	1	0	0	0	14155	1145	40	1	842	1	SEPT12	16	4836007	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		4836007	85518746	60	783											
ZNF768	79724	broad.mit.edu	37	chr16	30535933	30535933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgcacttgtaaggccgctCgccactgtggacccggtgat	7	9	12	13	4	0	1	0	1	0	0	2	2	0	2	3	3	0	3	3	3	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr16:30535933C>T	uc002dyk.4	-	1	1704	c.1528G>A	c.(1528-1530)Gag>Aag	p.E510K	ZNF768_uc010vex.2_Missense_Mutation_p.E479K|ZNF768_uc010vew.2_Missense_Mutation_p.E479K	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	510					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TAAGGCCGCTCGCCACTGTGG	0.701													T	30535933	C	T	30535933	3	4	11	1	0	0	0	0	1	0	0	0	18241	893	31	1	98	1	ZNF768	16	30535933	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	25699926	30535933	59818820	61	784											
CAMKK1	84254	broad.mit.edu	37	chr17	3779601	3779601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgctggacagctgagcGtcgttcccctcaaactggtt	6	10	12	13	3	1	1	1	1	0	0	3	2	2	2	3	2	4	4	3	2	1	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:3779601G>A	uc002fwv.3	-	10	1174	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	CAMKK1_uc002fwt.3_Silent_p.D304D|CAMKK1_uc002fwu.3_Silent_p.D304D	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	304	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACAGCTGAGCGTCGTTCCCCT	0.612													A	3779601	G	A	3779601	2	1	11	1	0	0	0	0	0	0	0	1	2632	1136	40	1		1	CAMKK1	17	3779601	Silent	SNP	G	TCGA-06-0124-01A-01D-1490-08		3779601	77415609	62	785											
NF1	4763	broad.mit.edu	37	chr17	29662002	29662002	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgaccatcaatgaaaaaCagatgtacccatctattcaa	18	9	4	10	0	3	3	2	2	1	1	3	3	3	3	2	0	2	1	2	0	7	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29662002C>T	uc002hgg.3	+	39	6342	c.5959C>T	c.(5959-5961)Cag>Tag	p.Q1987*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1966*|NF1_uc010cso.3_Nonsense_Mutation_p.Q175*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1987					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1987*(2)|p.K1986fs*27(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAATGAAAAACAGATGTACCC	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29662002	C	T	29662002	4	4	11	1	0	0	0	0	0	1	0	0	10432	479	17	2	6178	2	NF1	17	29662002	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	25882401	29662002	51533208	63	786											
NF1	4763	broad.mit.edu	37	chr17	29667596	29667596	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggtcaacttgtattCagcaggtaccgcacttcttg	9	13	10	9	1	3	2	2	2	1	0	3	2	3	2	1	2	3	4	1	2	3	6			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:29667596C>A	uc002hgg.3	+	46	7378	c.6995C>A	c.(6994-6996)tCa>tAa	p.S2332*	NF1_uc002hgh.3_Nonsense_Mutation_p.S2311*|NF1_uc010cso.3_Nonsense_Mutation_p.S520*|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2332					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2332*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACTTGTATTCAGCAGGTACC	0.448			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29667596	C	A	29667596	4	1	11	1	0	0	0	0	0	1	0	0	10432	838	29	4	7242	4	NF1	17	29667596	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	5594	29667596	51527614	64	787											
KRT37	8688	broad.mit.edu	37	chr17	39578641	39578641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggctcaatgtccagctCgatccggaacttctccccca	7	9	10	15	2	2	0	1	0	1	0	6	2	4	1	4	3	2	2	4	3	2	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr17:39578641C>T	uc002hwp.1	-	3	825	c.778G>A	c.(778-780)Gag>Aag	p.E260K		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	260	Linker 12.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				ATGTCCAGCTCGATCCGGAAC	0.552													T	39578641	C	T	39578641	3	4	11	1	0	0	0	0	1	0	0	0	8532	893	31	1	587	1	KRT37	17	39578641	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	9911045	39578641	41616569	65	788											
CLEC4M	10332	broad.mit.edu	37	chr19	7831634	7831634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaactggcacgactccGtcaccgcctgccaggaagtg	9	5	13	14	4	1	0	1	0	0	0	2	3	2	2	4	3	3	1	4	3	2	0			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:7831634G>A	uc010dvt.3	+	4	995	c.877G>A	c.(877-879)Gtc>Atc	p.V293I	CLEC4M_uc010xjv.1_3'UTR|CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Missense_Mutation_p.V270I|CLEC4M_uc010xjw.2_Missense_Mutation_p.V226I|CLEC4M_uc010dvs.3_Missense_Mutation_p.V269I|CLEC4M_uc010xjx.2_Missense_Mutation_p.V242I|CLEC4M_uc002mhz.3_Missense_Mutation_p.V201I|CLEC4M_uc002mic.3_Missense_Mutation_p.V265I|CLEC4M_uc002mia.3_Missense_Mutation_p.V157I	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	293	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						GCACGACTCCGTCACCGCCTG	0.597													A	7831634	G	A	7831634	3	1	11	1	0	0	0	0	1	0	0	0	3549	1145	40	1	916	1	CLEC4M	19	7831634	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		7831634	51297349	66	789											
NCAN	1463	broad.mit.edu	37	chr19	19337603	19337603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctagcgacatgggggcaGgcactgcagcaagttcacac	10	5	13	13	1	1	0	1	0	0	0	1	1	1	0	1	3	3	5	1	3	2	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:19337603G>C	uc002nlz.3	+	6	1480	c.1381G>C	c.(1381-1383)Ggc>Cgc	p.G461R	NCAN_uc010ecc.1_Missense_Mutation_p.G25R	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	461					axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CATGGGGGCAGGCACTGCAGC	0.642													C	19337603	G	C	19337603	3	2	11	1	0	0	0	0	1	0	0	0	10280	1000	35	4	1403	4	NCAN	19	19337603	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08	11505969	19337603	39791380	67	790											
PAPL	390928	broad.mit.edu	37	chr19	39591969	39591969	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgagcactcgtatgaaCgactgtggccaatttacaac	12	10	8	11	2	1	2	1	2	0	0	2	3	1	2	1	1	4	2	1	1	5	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr19:39591969C>T	uc002oki.3	+	9	1289	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	PAPL_uc010egl.3_Silent_p.N297N	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	339						extracellular region	acid phosphatase activity|metal ion binding										CTCGTATGAACGACTGTGGCC	0.597													T	39591969	C	T	39591969	4	4	11	1	0	0	0	0	0	1	0	0	11503	528	19	1	1049	1	PAPL	19	39591969	Nonsense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	20254366	39591969	19537014	68	791											
RSPO4	343637	broad.mit.edu	37	chr20	947858	947858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggccaaagtgcccggcGggcaggtgggcagacacttc	7	5	18	11	2	0	1	0	0	0	1	1	1	0	1	2	6	1	2	2	6	1	1			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr20:947858G>A	uc002wej.3	-	2	468	c.368C>T	c.(367-369)cCg>cTg	p.P123L	RSPO4_uc002wek.3_Missense_Mutation_p.P123L	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	123					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						AGTGCCCGGCGGGCAGGTGGG	0.647													A	947858	G	A	947858	3	1	11	1	0	0	0	0	1	0	0	0	13803	1116	39	1	348	1	RSPO4	20	947858	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		947858	62077662	69	792											
POTED	317754	broad.mit.edu	37	chr21	14982928	14982928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagactacgaccacagcGccttcatggagccgaggtac	10	5	14	12	3	1	1	1	0	0	1	1	5	1	2	3	4	4	1	3	4	2	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:14982928G>A	uc002yjb.1	+	0	431	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_174981	NP_778146	Q86YR6	POTED_HUMAN	Homo sapiens POTE ankyrin domain family, member D (POTED), mRNA.	127						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						CGACCACAGCGCCTTCATGGA	0.597													A	14982928	G	A	14982928	3	1	11	1	0	0	0	0	1	0	0	0	12340	1087	38	1	381	1	POTED	21	14982928	Missense_Mutation	SNP	G	TCGA-06-0124-01A-01D-1490-08		14982928	33146967	70	793											
PRDM15	63977	broad.mit.edu	37	chr21	43291677	43291677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgtcggacacctcattcCctagagatgtttccaagagc	10	10	9	12	1	1	2	1	0	0	2	4	4	3	3	3	1	1	1	3	1	2	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr21:43291677C>T	uc002yzq.1	-	3	578	c.467G>A	c.(466-468)gGg>gAg	p.G156E	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CACCTCATTCCCTAGAGATGT	0.582													T	43291677	C	T	43291677	3	4	11	1	0	0	0	0	1	0	0	0	12542	623	22	2	4168	2	PRDM15	21	43291677	Missense_Mutation	SNP	C	TCGA-06-0124-01A-01D-1490-08	28308749	43291677	4838218	71	794											
MICAL3	57553	broad.mit.edu	37	chr22	18274039	18274039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgaaccactcctgcatCagcttggggtcgtccttctt	6	13	9	13	1	2	1	1	1	1	0	5	1	4	1	3	2	4	3	3	2	1	4			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:18274039C>A	uc002zng.4	-	29	6032	c.5679G>T	c.(5677-5679)ctG>ctT	p.L1893L	MICAL3_uc011agl.2_Silent_p.L1809L|MICAL3_uc010grd.2_Silent_p.L9L|MICAL3_uc010gre.2_Non-coding_Transcript	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1893						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		ACTCCTGCATCAGCTTGGGGT	0.632													A	18274039	C	A	18274039	2	1	11	1	0	0	0	0	0	0	0	1	9646	813	29	4		4	MICAL3	22	18274039	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08		18274039	33030527	72	795											
NAGA	4668	broad.mit.edu	37	chr22	42458930	42458930	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggcggagatggtacgCaggtctgtggacatcaagag	9	9	16	7	2	3	2	1	0	2	2	3	4	3	3	0	5	1	2	0	5	2	2			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:42458930C>G	uc003bbw.4	-	6	1403	c.858G>C	c.(856-858)ctG>ctC	p.L286L		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	286					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AGATGGTACGCAGGTCTGTGG	0.557													G	42458930	C	G	42458930	2	3	11	1	0	0	0	0	0	0	0	1	10217	697	25	4		4	NAGA	22	42458930	Silent	SNP	C	TCGA-06-0124-01A-01D-1490-08	24184891	42458930	8845636	73	796											
PKDREJ	10343	broad.mit.edu	37	chr22	46655208	46655208	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatgttctgtccaaagTggtatcaacagaaagccatt	14	11	9	7	0	2	2	1	1	1	1	3	2	3	2	2	1	2	2	2	1	5	3			TCGA-06-0124-01A-01D-1490-08	TCGA-06-0124-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ae82bf8-7076-43fb-a541-4c7db5d49280	618c927a-48c5-446e-9af1-6456f7cfad71	g.chr22:46655208T>G	uc003bhh.3	-	0	4012	c.4012A>C	c.(4012-4014)Act>Cct	p.T1338P		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1338	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CTGTCCAAAGTGGTATCAACA	0.398													G	46655208	T	G	46655208	3	3	11	1	0	0	0	0	1	0	0	0	12047	1696	59	5	2753	5	PKDREJ	22	46655208	Missense_Mutation	SNP	T	TCGA-06-0124-01A-01D-1490-08	4196278	46655208	4649358	74	797											
NPHP4	261734	broad.mit.edu	37	chr1	5969224	5969224	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttacccctggtcccacAggtgagttctgcggggcagc	6	8	14	13	1	1	1	0	1	1	0	2	2	2	2	3	5	3	2	3	5	1	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:5969224A>T	uc001alq.2	-	11	1759	c.1491T>A	c.(1489-1491)ccT>ccA	p.P497P	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	497					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGTCCCACAGGTGAGTTCT	0.597													T	5969224	A	T	5969224	2	4	12	1	0	0	0	0	0	0	0	1	10657	175	7	5		5	NPHP4	1	5969224	Silent	SNP	A	TCGA-06-0126-01A-01D-1490-08		5969224	243281397	1	798											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12253032	12253032	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccccagccagtgtccAcacgatcccaacacacgcag	12	5	6	18	2	0	0	0	0	0	0	2	1	2	0	5	0	3	1	5	0	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:12253032A>C	uc001att.3	+	5	753	c.664A>C	c.(664-666)Aca>Cca	p.T222P	TNFRSF1B_uc001atu.3_Missense_Mutation_p.T27P|TNFRSF1B_uc009vnk.3_Non-coding_Transcript	NM_001066	NP_001057	P20333	TNR1B_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1B (TNFRSF1B), mRNA.	222					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	p.T222P(2)		central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	GCCAGTGTCCACACGATCCCA	0.637													C	12253032	A	C	12253032	3	2	12	1	0	0	0	0	1	0	0	0	16394	159	6	5	686	5	TNFRSF1B	1	12253032	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	6283808	12253032	236997589	2	799											
THRAP3	9967	broad.mit.edu	37	chr1	36752347	36752347	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagccgagttgaatcttcTaagcgcaagtctgcaaagga	13	9	10	9	2	3	1	0	1	3	0	3	3	3	2	1	1	3	3	1	1	5	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:36752347T>C	uc001cae.4	+	3	740	c.516T>C	c.(514-516)tcT>tcC	p.S172S	THRAP3_uc001caf.4_Silent_p.S172S|THRAP3_uc001cag.1_Silent_p.S172S	NM_005119	NP_005110	Q9Y2W1	TR150_HUMAN	Homo sapiens thyroid hormone receptor associated protein 3 (THRAP3), mRNA.	172	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAATCTTCTAAGCGCAAGT	0.527			T	USP6	aneurysmal bone cysts								C	36752347	T	C	36752347	2	2	12	1	0	0	0	0	0	0	0	1	15974	1509	53	3		3	THRAP3	1	36752347	Silent	SNP	T	TCGA-06-0126-01A-01D-1490-08	24499315	36752347	212498274	3	800											
C8A	731	broad.mit.edu	37	chr1	57383364	57383364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggcctcgtgtccagggcGgaaagtacagacgcaggctt	9	6	16	10	3	0	1	0	0	0	1	2	2	1	2	2	5	1	3	2	5	2	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:57383364G>A	uc001cyo.2	+	10	1862	c.1730G>A	c.(1729-1731)cGg>cAg	p.R577Q		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	577	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGTCCAGGGCGGAAAGTACAG	0.557													A	57383364	G	A	57383364	3	1	12	1	0	0	0	0	1	0	0	0	2440	1116	39	1	1772	1	C8A	1	57383364	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	20631017	57383364	191867257	4	801											
LPAR3	23566	broad.mit.edu	37	chr1	85331129	85331142	+	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	ACTTGTATGCGGAG	-																															ctccggcggctgatggacccActtgtatgcggagacaagac																								rs140283678		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85331129_85331142delACTTGTATGCGGAG	uc001dkl.2	-	0	701_714	c.662_675delCTCCGCATACAAGT	c.(661-675)tctccgcatacaagtfs	p.S221fs	LPAR3_uc009wcj.1_Frame_Shift_Del_p.S221fs	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	221					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGATGGACCCACTTGTATGCGGAGACAAGACGTT	0.509													-	85331142	ACTTGTATGCGGAG	-	85331129	7	5	12	1	0	1	0	1	0	0	0	0	8976	156	6	0	394	0	LPAR3	1	85331129	Frame_Shift_Del	DEL	ACTTGTATGCGGAG	TCGA-06-0126-01A-01D-1490-08	27947765	85331129	163919492	5	802											
SYDE2	84144	broad.mit.edu	37	chr1	85648703	85648703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccttaacgcttagctttCggctaaattctggcaacttt	8	16	6	11	2	1	0	0	0	1	0	3	0	2	0	1	2	3	4	1	2	5	7			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:85648703C>T	uc009wcm.3	-	2	1671	c.1622G>A	c.(1621-1623)cGa>cAa	p.R541Q	SYDE2_uc001dku.4_Missense_Mutation_p.R541Q	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	541					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		GCTTAGCTTTCGGCTAAATTC	0.338													T	85648703	C	T	85648703	3	4	12	1	0	0	0	0	1	0	0	0	15533	884	31	1	1982	1	SYDE2	1	85648703	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	317574	85648703	163601918	6	803											
KCNA10	3744	broad.mit.edu	37	chr1	111060591	111060591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgcaggtagactccacCatgaagaaagggtcggtgaa	14	6	13	8	2	0	4	0	2	0	2	2	5	1	4	2	3	1	2	2	3	4	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:111060591C>A	uc001dzt.1	-	0	1207	c.819G>T	c.(817-819)atG>atT	p.M273I		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	273						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		TAGACTCCACCATGAAGAAAG	0.532													A	111060591	C	A	111060591	3	1	12	1	0	0	0	0	1	0	0	0	8060	594	21	4	720	4	KCNA10	1	111060591	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	25411888	111060591	138190030	7	804											
FLG2	388698	broad.mit.edu	37	chr1	152326339	152326339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtagttccttgtcttctgCgaactgtggatcctgacttt	6	16	10	9	1	2	1	0	1	2	0	4	4	4	2	2	1	2	2	2	1	2	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:152326339C>T	uc001ezw.4	-	2	3996	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1308							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGTCTTCTGCGAACTGTGGA	0.473													T	152326339	C	T	152326339	3	4	12	1	0	0	0	0	1	0	0	0	5972	768	27	1	3256	1	FLG2	1	152326339	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	41265748	152326339	96924282	8	805											
ETV3L	440695	broad.mit.edu	37	chr1	157068567	157068567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccccagcagcaagtggggGgatggcggcgcccgcacttc	6	4	16	15	3	0	0	0	0	0	0	1	1	0	1	3	5	2	3	3	5	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:157068567G>T	uc001fqq.2	-	2	702	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	139						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GCAAGTGGGGGGATGGCGGCG	0.602													T	157068567	G	T	157068567	2	4	12	1	0	0	0	0	0	0	0	1	5321	1219	43	4		4	ETV3L	1	157068567	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	4742228	157068567	92182054	9	806											
PVRL4	81607	broad.mit.edu	37	chr1	161043074	161043074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccctcggctctcagccCtacactctcctccggctgca	4	9	9	19	2	2	0	1	0	2	0	6	0	3	0	4	3	3	3	4	3	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:161043074C>T	uc001fxo.2	-	7	1548	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	PVRL4_uc010pjy.1_Intron|PVRL4_uc010pjz.1_Intron	NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	417					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GCTCTCAGCCCTACACTCTCC	0.652													T	161043074	C	T	161043074	3	4	12	1	0	0	0	0	1	0	0	0	12930	681	24	2	291	2	PVRL4	1	161043074	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	3974507	161043074	88207547	10	807											
RGS1	5996	broad.mit.edu	37	chr1	192547487	192547487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagaagagatatataaagCatttgtgcattcagatgctg	15	11	10	5	0	1	3	1	0	0	3	1	4	1	3	0	0	4	4	0	0	5	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr1:192547487C>G	uc001gsi.1	+	3	482	c.416C>G	c.(415-417)gCa>gGa	p.A139G	RGS1_uc010pou.1_Missense_Mutation_p.A139G	NM_002922	NP_002913	Q08116	RGS1_HUMAN	Homo sapiens regulator of G-protein signaling 1 (RGS1), mRNA.	139	RGS.				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				ATATATAAAGCATTTGTGCAT	0.343													G	192547487	C	G	192547487	3	3	12	1	0	0	0	0	1	0	0	0	13381	710	25	4	430	4	RGS1	1	192547487	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	31504413	192547487	56703134	11	808											
SRD5A2	6716	broad.mit.edu	37	chr2	31756490	31756490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttcctgagctggcgcaaTatatagtcactatgaatgtt	10	13	10	8	1	1	2	1	2	0	0	2	2	2	2	1	2	1	4	1	2	6	6			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:31756490T>C	uc002rnw.1	-	3	566	c.495A>G	c.(493-495)atA>atG	p.I165M		NM_000348	NP_000339	P31213	S5A2_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2) (SRD5A2), mRNA.	166					androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	GCTGGCGCAATATATAGTCAC	0.433													C	31756490	T	C	31756490	3	2	12	1	0	0	0	0	1	0	0	0	15235	1396	49	3	278	3	SRD5A2	2	31756490	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08		31756490	211442883	12	809											
TTN	7273	broad.mit.edu	37	chr2	179452825	179452825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgctatttttggtctCatttccacaacatatccaat	10	16	4	11	0	2	0	1	0	2	0	5	0	4	0	2	1	2	2	2	1	4	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr2:179452825C>A	uc021vsy.1	-	253	55830	c.55605G>T	c.(55603-55605)atG>atT	p.M18535I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M12230I|TTN_uc021vta.1_Missense_Mutation_p.M12163I|TTN_uc021vtb.1_Missense_Mutation_p.M12038I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19462	Fibronectin type-III 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G18534G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGTCTCATTTCCACAA	0.453													A	179452825	C	A	179452825	3	1	12	1	0	0	0	0	1	0	0	0	16837	826	29	4	44902	4	TTN	2	179452825	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	147696335	179452825	63746548	13	810											
CNTN4	152330	broad.mit.edu	37	chr3	3078881	3078881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtcccagaactcattgatgGgaagacattcacagcgaccg	13	7	10	11	2	2	3	2	1	0	2	3	5	3	4	2	1	2	0	2	1	2	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:3078881G>T	uc003bpc.3	+	17	2300	c.1961G>T	c.(1960-1962)gGg>gTg	p.G654V	CNTN4_uc003bpb.1_Missense_Mutation_p.G325V|CNTN4_uc021wsg.1_Missense_Mutation_p.G654V|CNTN4_uc003bpd.1_Missense_Mutation_p.G654V|CNTN4_uc003bpe.3_Missense_Mutation_p.G326V|CNTN4_uc003bpf.3_Missense_Mutation_p.G325V|CNTN4_uc003bpg.3_5'Flank	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	654	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CTCATTGATGGGAAGACATTC	0.483													T	3078881	G	T	3078881	3	4	12	1	0	0	0	0	1	0	0	0	3674	1232	43	4	2019	4	CNTN4	3	3078881	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		3078881	194943549	14	811											
ABCC5	10057	broad.mit.edu	37	chr3	183665250	183665250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccaccgcatcgcacaCgtaaacaaaaaaaaaggagc	18	2	8	13	3	0	0	0	0	0	0	1	1	0	1	3	1	3	3	3	1	6	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr3:183665250C>T	uc003fmg.3	-	22	3441	c.3276G>A	c.(3274-3276)acG>acA	p.T1092T	ABCC5_uc011bqt.2_Silent_p.T620T|ABCC5_uc010hxl.3_Silent_p.T1049T	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1092	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GCATCGCACACGTAAACAAAA	0.532													T	183665250	C	T	183665250	2	4	12	1	0	0	0	0	0	0	0	1	56	523	19	1		1	ABCC5	3	183665250	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	180586369	183665250	14357180	15	812											
ADRA2C	152	broad.mit.edu	37	chr4	3768581	3768581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaccagccgggcgctgcGcgcgccacagaacctcttcc	6	5	12	18	5	1	2	0	1	1	1	2	2	2	2	5	1	3	2	5	1	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:3768581G>A	uc003ghm.3	+	0	286	c.248G>A	c.(247-249)cGc>cAc	p.R83H		NM_000683	NP_000674	P18825	ADA2C_HUMAN	Homo sapiens adrenergic, alpha-2C-, receptor (ADRA2C), mRNA.	83					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CGGGCGCTGCGCGCGCCACAG	0.677													A	3768581	G	A	3768581	3	1	12	1	0	0	0	0	1	0	0	0	339	1087	38	1	250	1	ADRA2C	4	3768581	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		3768581	187385695	16	813											
UGT2B28	54490	broad.mit.edu	37	chr4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgccaaacccctacCtaaggtaaacatactttcgt	14	9	4	14	1	0	0	0	0	0	0	1	0	0	0	5	1	6	1	5	1	7	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:70148376C>A	uc003hej.3	+	1	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_uc010ihr.3_Missense_Mutation_p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	289					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAACCCCTACCTAAGGTAAAC	0.383													A	70148376	C	A	70148376	3	1	12	1	0	0	0	0	1	0	0	0	17062	681	24	4	872	4	UGT2B28	4	70148376	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	66379795	70148376	121005900	17	814											
FGB	2244	broad.mit.edu	37	chr4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggcatgttcttcagcaCgtatgacagagacaatgacg	13	8	10	10	3	2	3	1	2	1	1	2	4	2	3	0	1	2	4	0	1	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:155490927C>T	uc003ioa.4	+	6	1259	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_uc010ipv.3_Missense_Mutation_p.T348M	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423													T	155490927	C	T	155490927	3	4	12	1	0	0	0	0	1	0	0	0	5880	536	19	1	1246	1	FGB	4	155490927	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	85342551	155490927	35663349	18	815											
GRIA2	2891	broad.mit.edu	37	chr4	158234012	158234012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaagggataaagtaaaCgacattgtagaccaggtttg	15	10	12	4	1	0	2	0	1	0	1	0	4	0	3	1	2	1	3	1	2	6	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:158234012C>T	uc003ipm.4	+	3	1110	c.651C>T	c.(649-651)aaC>aaT	p.N217N	GRIA2_uc011cit.2_Silent_p.N170N|GRIA2_uc021xtr.1_Silent_p.N217N|GRIA2_uc003ipl.4_Silent_p.N217N|GRIA2_uc003ipk.4_Silent_p.N170N|GRIA2_uc010iqh.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	217					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.N217N(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ATAAAGTAAACGACATTGTAG	0.373													T	158234012	C	T	158234012	2	4	12	1	0	0	0	0	0	0	0	1	6823	535	19	1		1	GRIA2	4	158234012	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	2743085	158234012	32920264	19	816											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251077	160251077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaaagaacatgcaaaaagTtgaagaggaaggagagattg	21	5	13	2	0	0	5	0	1	0	4	0	8	0	7	0	2	2	2	0	2	7	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:160251077T>G	uc003iqg.4	+	5	1044	c.734T>G	c.(733-735)gTt>gGt	p.V245G		NM_014247	NP_055062	Q9Y4G8	RPGF2_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 2 (RAPGEF2), mRNA.	245					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		ATGCAAAAAGTTGAAGAGGAA	0.398													G	160251077	T	G	160251077	3	3	12	1	0	0	0	0	1	0	0	0	13132	1725	60	5	756	5	RAPGEF2	4	160251077	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	2017065	160251077	30903199	20	817											
SORBS2	8470	broad.mit.edu	37	chr4	186545050	186545050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaattcggagatgcgtgtGggcaccatgtcccggggcac	7	8	15	11	4	0	1	0	0	0	1	3	3	1	1	2	4	1	2	2	4	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr4:186545050G>A	uc003iyg.3	-	12	1895	c.1863C>T	c.(1861-1863)ccC>ccT	p.P621P	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Silent_p.P607P|SORBS2_uc003iyl.3_Silent_p.P507P|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Silent_p.P411P|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	507						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGATGCGTGTGGGCACCATGT	0.572													A	186545050	G	A	186545050	2	1	12	1	0	0	0	0	0	0	0	1	15022	1335	47	2		2	SORBS2	4	186545050	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	26293973	186545050	4609226	21	818											
DNAH5	1767	broad.mit.edu	37	chr5	13916467	13916467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacttacctttacaaacAgagatgtgatcttctcagag	13	12	7	9	0	2	3	1	1	2	2	3	4	2	3	1	0	4	1	1	0	3	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:13916467A>G	uc003jfd.2	-	8	1229	c.1187T>C	c.(1186-1188)cTg>cCg	p.L396P	DNAH5_uc003jfe.1_Non-coding_Transcript	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	396	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTTTACAAACAGAGATGTGAT	0.323									Kartagener syndrome				G	13916467	A	G	13916467	3	3	12	1	0	0	0	0	1	0	0	0	4643	188	7	3	12971	3	DNAH5	5	13916467	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		13916467	166998793	22	819											
HEATR7B2	133558	broad.mit.edu	37	chr5	41049516	41049516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgcaggtaccacaaaaGtcaggatccttggccatagc	12	9	9	11	0	2	0	1	0	1	0	3	1	3	1	3	3	3	2	3	3	4	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:41049516G>T	uc003jmj.4	-	13	1857	c.1367C>A	c.(1366-1368)aCt>aAt	p.T456N	HEATR7B2_uc003jmi.4_Missense_Mutation_p.T11N	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	456							binding	p.T456N(4)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TACCACAAAAGTCAGGATCCT	0.458													T	41049516	G	T	41049516	3	4	12	1	0	0	0	0	1	0	0	0	7090	1029	36	4	3506	4	HEATR7B2	5	41049516	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	27133049	41049516	139865744	23	820											
OR2Y1	134083	broad.mit.edu	37	chr5	180166818	180166818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgcaaaggttgatcaggaGctggggcacggtgctggtgg	7	7	18	9	2	1	1	1	1	0	0	1	2	1	2	1	7	2	5	1	7	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr5:180166818G>A	uc003mmf.1	-	0	241	c.241C>T	c.(241-243)Ctc>Ttc	p.L81F		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGATCAGGAGCTGGGGCACG	0.587													A	180166818	G	A	180166818	3	1	12	1	0	0	0	0	1	0	0	0	11111	971	34	2	698	2	OR2Y1	5	180166818	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	139117302	180166818	748442	24	821											
SNRNP48	154007	broad.mit.edu	37	chr6	7602909	7602909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctggcagaagtacgaGattataaaagaagacgccag	18	6	10	7	2	0	4	0	0	0	4	1	5	1	4	2	1	1	2	2	1	7	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:7602909G>T	uc003mxr.3	+	5	708	c.649G>T	c.(649-651)Gat>Tat	p.D217Y	SNRNP48_uc003mxs.3_Non-coding_Transcript|SNRNP48_uc003mxt.1_5'UTR	NM_152551	NP_689764	Q6IEG0	SNR48_HUMAN	Homo sapiens small nuclear ribonucleoprotein 48kDa (U11/U12) (SNRNP48), mRNA.	217					mRNA processing	cytoplasm|U12-type spliceosomal complex	metal ion binding			kidney(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						AGAAGTACGAGATTATAAAAG	0.308													T	7602909	G	T	7602909	3	4	12	1	0	0	0	0	1	0	0	0	14951	942	33	4	671	4	SNRNP48	6	7602909	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		7602909	163512158	25	822											
LGSN	51557	broad.mit.edu	37	chr6	63990671	63990671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttccatctgaccaggcCtggtagaggaggaaaaactc	13	8	11	9	0	1	3	0	1	1	2	3	5	2	5	3	4	1	1	3	4	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr6:63990671C>T	uc003peh.3	-	3	819	c.785G>A	c.(784-786)aGg>aAg	p.R262K	LGSN_uc003pei.3_Intron	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	262					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	CTGACCAGGCCTGGTAGAGGA	0.433													T	63990671	C	T	63990671	3	4	12	1	0	0	0	0	1	0	0	0	8819	681	24	2	748	2	LGSN	6	63990671	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	56387762	63990671	107124396	26	823											
KLHL7	55975	broad.mit.edu	37	chr7	23163411	23163411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagaaaacgttgtgtgacGtgatcctcatggtccaggaa	12	11	11	7	2	1	3	1	2	0	1	3	4	3	4	2	2	1	1	2	2	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:23163411G>A	uc003svs.4	+	1	429	c.136G>A	c.(136-138)Gtg>Atg	p.V46M	KLHL7_uc003svr.4_Missense_Mutation_p.V24M|KLHL7_uc011jys.2_Intron|KLHL7_uc011jyt.2_Intron|KLHL7_uc003svt.3_5'UTR|KLHL7_uc003svp.3_Missense_Mutation_p.V24M|KLHL7_uc003svq.3_Missense_Mutation_p.V46M|KLHL7_uc011jyu.2_Missense_Mutation_p.V24M	NM_001031710	NP_061334	Q8IXQ5	KLHL7_HUMAN	Homo sapiens kelch-like 7 (Drosophila) (KLHL7), transcript variant 1, mRNA.	46	BTB.					Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTGTGACGTGATCCTCAT	0.373													A	23163411	G	A	23163411	3	1	12	1	0	0	0	0	1	0	0	0	8452	1145	40	1	142	1	KLHL7	7	23163411	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		23163411	135975252	27	824											
MRPL32	64983	broad.mit.edu	37	chr7	42977165	42977165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcgaccatcctggttcaCccagaattgacaccaaagat	15	7	7	12	1	1	3	1	1	0	2	2	4	2	3	4	1	1	1	4	1	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:42977165C>T	uc003tia.3	+	2	604	c.557C>T	c.(556-558)aCc>aTc	p.T186I	MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	186					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome	p.F185F(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						TCCTGGTTCACCCAGAATTGA	0.418													T	42977165	C	T	42977165	3	4	12	1	0	0	0	0	1	0	0	0	9871	507	18	2	567	2	MRPL32	7	42977165	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	19813754	42977165	116161498	28	825											
WBSCR17	64409	broad.mit.edu	37	chr7	70886068	70886068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaagactggtgggacgcCggagacccttctctccccat	9	7	10	15	2	1	2	0	0	1	2	3	4	2	3	5	3	0	0	5	3	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:70886068C>T	uc003tvy.3	+	4	939	c.939C>T	c.(937-939)gcC>gcT	p.A313A	WBSCR17_uc003tvz.3_Silent_p.A12A	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	313						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.D312D(2)|p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGTGGGACGCCGGAGACCCTT	0.597													T	70886068	C	T	70886068	2	4	12	1	0	0	0	0	0	0	0	1	17366	639	23	1		1	WBSCR17	7	70886068	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	27908903	70886068	88252595	29	826											
GRM3	2913	broad.mit.edu	37	chr7	86468552	86468552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacatcaggtgggaagaCgcctgggccattggcccagt	9	7	14	11	1	1	1	1	0	0	1	1	3	1	2	3	4	1	0	3	4	2	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:86468552C>T	uc003uid.3	+	3	2821	c.1722C>T	c.(1720-1722)gaC>gaT	p.D574D	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.D446D|GRM3_uc010leh.3_Silent_p.D166D	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	574					synaptic transmission	integral to plasma membrane		p.E573K(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGTGGGAAGACGCCTGGGCCA	0.498													T	86468552	C	T	86468552	2	4	12	1	0	0	0	0	0	0	0	1	6853	535	19	1		1	GRM3	7	86468552	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	15582484	86468552	72670111	30	827											
COL1A2	1278	broad.mit.edu	37	chr7	94054953	94054953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgatggtcccccaggtcGcgatggtcaacccggacaca	10	5	12	14	4	1	0	1	0	0	0	3	4	2	1	3	4	2	0	3	4	2	0			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr7:94054953G>A	uc003ung.1	+	42	3284	c.2813G>A	c.(2812-2814)cGc>cAc	p.R938H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	938					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.R938H(4)|p.G937S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCCAGGTCGCGATGGTCAA	0.488										HNSCC(75;0.22)			A	94054953	G	A	94054953	3	1	12	1	0	0	0	0	1	0	0	0	3709	1087	38	1	2983	1	COL1A2	7	94054953	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	7586401	94054953	65083710	31	828											
FZD6	8323	broad.mit.edu	37	chr8	104342147	104342147	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgagagaggtgaaagcGgacggagctagcacccccag	13	4	14	10	2	1	3	1	2	0	1	1	6	1	5	2	3	3	2	2	3	3	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:104342147G>A	uc003ylh.3	+	5	2096	c.1806G>A	c.(1804-1806)gcG>gcA	p.A602A	FZD6_uc011lhn.2_Silent_p.A570A|FZD6_uc003ylj.3_Silent_p.A602A|FZD6_uc011lho.2_Silent_p.A297A|FZD6_uc011lhp.2_Silent_p.A547A	NM_001164615	NP_001158088	O60353	FZD6_HUMAN	Homo sapiens frizzled family receptor 6 (FZD6), transcript variant 2, mRNA.	602					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGGTGAAAGCGGACGGAGCTA	0.512													A	104342147	G	A	104342147	2	1	12	1	0	0	0	0	0	0	0	1	6186	1103	39	1		1	FZD6	8	104342147	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08		104342147	42021875	32	829											
C8orf76	84933	broad.mit.edu	37	chr8	124243741	124243743	+	In_Frame_Del	DEL	AAG	AAG	-																															agtcttttcctgagtgtggaAagaaggatttgatagttttg																										TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:124243741_124243743delAAG	uc003yqc.2	-	3	664_666	c.612_614delCTT	c.(610-615)ttcttt>ttt	p.204_205FF>F	C8orf76_uc003yqd.3_In_Frame_Del_p.172_173FF>F	NM_032847	NP_116236	Q96K31	CH076_HUMAN	Homo sapiens chromosome 8 open reading frame 76 (C8orf76), mRNA.	204							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGAGTGTGGAAAGAAGGATTTGA	0.433													-	124243743	AAG	-	124243741	7	5	12	1	0	1	0	1	0	0	0	0	2463	14	1	0	540	0	C8orf76	8	124243741	In_Frame_Del	DEL	AAG	TCGA-06-0126-01A-01D-1490-08	19901594	124243741	22120281	33	830											
EPPK1	83481	broad.mit.edu	37	chr8	144940328	144940328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcgtcgaagtagccgCgccggtaggccacgtccacg	6	7	12	16	7	1	0	0	0	1	0	5	1	2	0	5	2	1	2	5	2	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr8:144940328C>T	uc003zaa.1	-	0	7107	c.7094G>A	c.(7093-7095)cGc>cAc	p.R2365H		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2365						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R2364Q(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAAGTAGCCGCGCCGGTAGGC	0.692													T	144940328	C	T	144940328	3	4	12	1	0	0	0	0	1	0	0	0	5231	768	27	1	172	1	EPPK1	8	144940328	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	20696587	144940328	1423694	34	831											
TEK	7010	broad.mit.edu	37	chr9	27158007	27158007	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggaagttactcaagaTgtgaccagagaatgggctaa	13	8	12	8	1	1	3	1	1	0	2	1	5	1	4	2	2	1	3	2	2	5	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:27158007T>A	uc011lno.2	+	1	673	c.231T>A	c.(229-231)gaT>gaA	p.D77E	TEK_uc010mjc.1_Intron|TEK_uc011lnn.1_Missense_Mutation_p.D77E|TEK_uc003zqi.4_Missense_Mutation_p.D77E|TEK_uc011lnp.2_Intron|TEK_uc003zqj.1_Missense_Mutation_p.D54E	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	77	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.D77E(2)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTCAAGATGTGACCAGAG	0.493													A	27158007	T	A	27158007	3	1	12	1	0	0	0	0	1	0	0	0	15851	1461	51	5	237	5	TEK	9	27158007	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08		27158007	114055424	35	832											
TGFBR1	7046	broad.mit.edu	37	chr9	101908855	101908855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatctatgcaatgggcttaGtattctgggaaattgctcga	11	13	10	7	1	2	0	0	0	2	0	3	2	2	1	0	2	2	4	0	2	5	5	rs146549837		TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:101908855G>A	uc004azc.3	+	6	1295	c.1219G>A	c.(1219-1221)Gta>Ata	p.V407I	TGFBR1_uc004azd.3_Missense_Mutation_p.V330I|TGFBR1_uc004aze.3_Missense_Mutation_p.V411I|TGFBR1_uc011lvc.2_Missense_Mutation_p.V338I|5S_rRNA_uc022bkv.1_5'Flank	NM_004612	NP_004603	P36897	TGFR1_HUMAN	Homo sapiens transforming growth factor, beta receptor 1 (TGFBR1), transcript variant 1, mRNA.	407	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				AATGGGCTTAGTATTCTGGGA	0.398													A	101908855	G	A	101908855	3	1	12	1	0	0	0	0	1	0	0	0	15921	1029	36	2	1245	2	TGFBR1	9	101908855	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	74750848	101908855	39304576	36	833											
ORM1	5005	broad.mit.edu	37	chr9	117092750	117092750	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatcgcatcggcctttCgaaacgaggagtacaataag	13	11	9	8	4	0	0	0	0	0	0	3	3	0	1	1	2	2	2	1	2	6	6			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr9:117092750C>A	uc004bil.3	+	1	267	c.151C>A	c.(151-153)Cga>Aga	p.R51R	ORM1_uc011lxo.2_Intron	NM_000608	NP_000599	P02763	A1AG1_HUMAN	Homo sapiens orosomucoid 2 (ORM2), mRNA.	51					acute-phase response|regulation of immune system process|transport	extracellular space	protein binding			endometrium(2)|large_intestine(4)|lung(2)	8		Myeloproliferative disorder(63;0.163)			Acenocoumarol(DB01418)|Alfentanil(DB00802)|Aprindine(DB01429)|Disopyramide(DB00280)|Penbutolol(DB01359)|Phenprocoumon(DB00946)|Quinidine(DB00908)|Tamsulosin(DB00706)	ATCGGCCTTTCGAAACGAGGA	0.498													A	117092750	C	A	117092750	2	1	12	1	0	0	0	0	0	0	0	1	11343	876	31	4		4	ORM1	9	117092750	Silent	SNP	C	TCGA-06-0126-01A-01D-1490-08	15183895	117092750	24120681	37	834											
THNSL1	79896	broad.mit.edu	37	chr10	25313145	25313145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaaattgctcctgtcagGcacctttcaggcaaccagtt	11	11	7	12	0	3	0	3	0	0	0	4	0	4	0	3	2	2	4	3	2	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:25313145G>A	uc001isi.4	+	2	1322	c.993G>A	c.(991-993)agG>agA	p.R331R	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Silent_p.R331R	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	331					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	CTCCTGTCAGGCACCTTTCAG	0.433													A	25313145	G	A	25313145	2	1	12	1	0	0	0	0	0	0	0	1	15962	1194	42	2		2	THNSL1	10	25313145	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08		25313145	110221602	38	835											
CNNM2	54805	broad.mit.edu	37	chr10	104836896	104836896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaactgtgtgacgcacAgtaaggccaaccacagcctg	14	5	10	12	1	0	2	0	1	0	1	0	2	0	2	3	1	4	2	3	1	4	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:104836896A>T	uc001kwm.3	+	7	2750	c.2587A>T	c.(2587-2589)Agt>Tgt	p.S863C	CNNM2_uc001kwn.3_Missense_Mutation_p.S841C	NM_017649	NP_060119	Q9H8M5	CNNM2_HUMAN	Homo sapiens cyclin M2 (CNNM2), transcript variant 1, mRNA.	863					ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGTGACGCACAGTAAGGCCAA	0.617													T	104836896	A	T	104836896	3	4	12	1	0	0	0	0	1	0	0	0	3644	188	7	5	2659	5	CNNM2	10	104836896	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	79523751	104836896	30697851	39	836											
SMC3	9126	broad.mit.edu	37	chr10	112350834	112350834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatcttcctggagaggttActtttctgcctcttaacaag	9	15	8	9	0	3	2	0	1	3	1	4	3	4	2	2	2	3	1	2	2	4	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr10:112350834A>G	uc001kze.3	+	16	1882	c.1756A>G	c.(1756-1758)Act>Gct	p.T586A		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	586	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGGAGAGGTTACTTTTCTGCC	0.328													G	112350834	A	G	112350834	3	3	12	1	0	0	0	0	1	0	0	0	14878	391	14	3	1822	3	SMC3	10	112350834	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	7513938	112350834	23183913	40	837											
RAG2	5897	broad.mit.edu	37	chr11	36614899	36614899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaagctgatagccaccaaCaataacaaattcatcattgt	16	11	4	10	0	3	1	3	1	0	0	3	1	3	1	2	0	4	1	2	0	6	5			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:36614899C>A	uc021qge.1	-	0	820	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	RAG2_uc021qgc.1_Missense_Mutation_p.V274F|RAG2_uc021qgd.1_Missense_Mutation_p.V274F|RAG2_uc001mwv.4_Missense_Mutation_p.V274F|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	274					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				TAGCCACCAACAATAACAAAT	0.428									Familial Hemophagocytic Lymphohistiocytosis				A	36614899	C	A	36614899	3	1	12	1	0	0	0	0	1	0	0	0	13093	478	17	4	767	4	RAG2	11	36614899	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		36614899	98391617	41	838											
PPME1	51400	broad.mit.edu	37	chr11	73964552	73964552	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtgtgtttcctggctgTtagtgacctgctgtccaccc	5	13	10	13	0	0	1	0	1	0	0	2	1	2	1	4	1	1	4	4	1	1	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:73964552T>C	uc001ouw.3	+	13	1257	c.1158T>C	c.(1156-1158)tgT>tgC	p.C386C	PPME1_uc009yty.3_Silent_p.C270C|PPME1_uc001oux.3_Silent_p.C199C|P4HA3_uc001ouy.4_Intron|SNORA7_uc021qnf.1_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	386					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTCCTGGCTGTTAGTGACCTG	0.498													C	73964552	T	C	73964552	2	2	12	1	0	0	0	0	0	0	0	1	12429	1731	60	3		3	PPME1	11	73964552	Silent	SNP	T	TCGA-06-0126-01A-01D-1490-08	37349653	73964552	61041964	42	839											
HMBS	3145	broad.mit.edu	37	chr11	118962836	118962836	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgttccgcctccacagaTcctgcaccctgaggaatgca	8	8	8	17	1	0	2	0	1	0	1	3	3	3	3	6	1	2	3	6	1	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr11:118962836T>G	uc001puz.1	+	10	770	c.613_splice	c.e10-1	p.I205_splice	HMBS_uc009zao.2_Splice_Site_p.I150_splice|HMBS_uc001pva.1_Splice_Site_p.I205_splice|HMBS_uc001pve.1_Splice_Site_p.I188_splice|HMBS_uc001pvf.1_Splice_Site_p.I188_splice	NM_000190	NP_001019553	P08397	HEM3_HUMAN	Homo sapiens hydroxymethylbilane synthase (HMBS), transcript variant 1, mRNA.	205					peptidyl-pyrromethane cofactor linkage	cytosol	hydroxymethylbilane synthase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		CCTCCACAGATCCTGCACCCT	0.537													G	118962836	T	G	118962836	3	3	12	1	0	0	0	0	1	0	0	0	7274	1449	50	5	652	5	HMBS	11	118962836	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	44998284	118962836	16043680	43	840											
ANO2	57101	broad.mit.edu	37	chr12	5963280	5963280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacggggcgtgtatccGgacaaagatggatccctggc	8	7	14	12	3	0	1	0	0	0	1	2	3	2	3	3	5	1	1	3	5	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:5963280G>A	uc001qnm.2	-	3	622	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ANO2_uc021qtt.1_Missense_Mutation_p.R188W	NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	188						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GCGTGTATCCGGACAAAGATG	0.458													A	5963280	G	A	5963280	3	1	12	1	0	0	0	0	1	0	0	0	697	1115	39	1	2538	1	ANO2	12	5963280	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		5963280	127888615	44	841											
LUM	4060	broad.mit.edu	37	chr12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacttcgttagcaacacGtagacattcatacatatccg	13	11	7	10	3	1	2	1	1	0	1	3	2	2	2	1	0	3	3	1	0	5	6			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:91497971G>A	uc001tbm.3	-	2	1377	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	330					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383													A	91497971	G	A	91497971	3	1	12	1	0	0	0	0	1	0	0	0	9155	1145	40	1	32	1	LUM	12	91497971	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	85534691	91497971	42353924	45	842											
DAO	1610	broad.mit.edu	37	chr12	109288048	109288048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgctaccaggtggcaagaGaaggcgcagacgtgattgtc	10	8	15	8	2	0	3	0	1	0	2	1	4	0	3	1	3	2	4	1	3	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr12:109288048G>A	uc001tnr.4	+	6	1188	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	DAO_uc001tnq.4_Missense_Mutation_p.E107K|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	173					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGTGGCAAGAGAAGGCGCAGA	0.582													A	109288048	G	A	109288048	3	1	12	1	0	0	0	0	1	0	0	0	4265	943	33	2	539	2	DAO	12	109288048	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	17790077	109288048	24563847	46	843											
PCDH9	5101	broad.mit.edu	37	chr13	67800099	67800099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagatcacaacaatgaccAccatggcaccggcgatgatg	14	5	10	12	3	1	3	1	2	0	1	1	5	1	3	3	2	1	1	3	2	3	0			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr13:67800099A>T	uc001vik.3	-	1	3166	c.2474T>A	c.(2473-2475)gTg>gAg	p.V825E	PCDH9_uc001vil.3_Missense_Mutation_p.V825E|PCDH9_uc010thl.2_Missense_Mutation_p.V825E|PCDH9_uc001vin.3_Missense_Mutation_p.V825E	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	825					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AACAATGACCACCATGGCACC	0.517													T	67800099	A	T	67800099	3	4	12	1	0	0	0	0	1	0	0	0	11594	159	6	5	1255	5	PCDH9	13	67800099	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		67800099	47369779	47	844											
OR4N5	390437	broad.mit.edu	37	chr14	20612258	20612258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgtgatggcctttgacCgctacatcgccatctgccgg	5	12	11	13	4	1	2	0	2	1	0	3	2	1	2	4	2	2	2	4	2	1	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:20612258C>T	uc010tla.2	+	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GGCCTTTGACCGCTACATCGC	0.483													T	20612258	C	T	20612258	3	4	12	1	0	0	0	0	1	0	0	0	11155	652	23	1	366	1	OR4N5	14	20612258	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		20612258	86737282	48	845											
CDCA4	55038	broad.mit.edu	37	chr14	105477589	105477589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtccagctcgcccaggtcGgacttgcagctggagctagg	6	8	15	12	2	0	0	0	0	0	0	3	2	1	2	2	5	4	4	2	5	1	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr14:105477589G>A	uc021sep.1	-	0	678	c.678C>T	c.(676-678)tcC>tcT	p.S226S	CDCA4_uc001yqa.2_Silent_p.S226S|CDCA4_uc001yqb.2_Silent_p.S226S	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	226						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		CGCCCAGGTCGGACTTGCAGC	0.672													A	105477589	G	A	105477589	2	1	12	1	0	0	0	0	0	0	0	1	3118	1103	39	1		1	CDCA4	14	105477589	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	84865331	105477589	1871951	49	846											
RYR3	6263	broad.mit.edu	37	chr15	34130001	34130002	+	Frame_Shift_Ins	INS	-	-	A																															atggtaaaggaattatctccINSaaaaaagaattccagaaggc																										TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:34130001_34130002insA	uc001zhi.3	+	88	11890_11891	c.11820_11821insA	c.(11818-11823)tccaaafs	p.S3940fs	RYR3_uc010bar.3_Frame_Shift_Ins_p.S3935fs	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3940	EF-hand.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAATTATCTCCAAAAAAGAATT	0.391													A	34130002	-	A	34130001	7	5	12	1	0	1	1	0	0	0	0	0	13861	581	21	0	12174	0	RYR3	15	34130001	Frame_Shift_Ins	INS	-	TCGA-06-0126-01A-01D-1490-08		34130001	68401391	50	847											
EIF2AK4	440275	broad.mit.edu	37	chr15	40282488	40282488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacagggaatgattcaccgGgatttgaagcctgtcaacat	13	9	10	9	1	2	2	2	2	0	0	2	4	2	4	2	2	3	0	2	2	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:40282488G>A	uc001zkm.1	+	15	2591	c.2541G>A	c.(2539-2541)cgG>cgA	p.R847R	EIF2AK4_uc010bbj.1_Silent_p.R548R|EIF2AK4_uc001zkn.1_5'Flank	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	847	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		TGATTCACCGGGATTTGAAGC	0.378													A	40282488	G	A	40282488	2	1	12	1	0	0	0	0	0	0	0	1	5038	1219	43	2		2	EIF2AK4	15	40282488	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	6152487	40282488	62248904	51	848											
NEDD4	4734	broad.mit.edu	37	chr15	56208834	56208834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatctttcttgagactgaaCgttttcctttattaacggag	9	17	8	7	2	2	3	0	3	2	1	3	5	3	4	1	1	2	1	1	1	3	7			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr15:56208834C>T	uc002adj.3	-	0	496	c.196G>A	c.(196-198)Gtt>Att	p.V66I	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.V66I|NEDD4_uc010ugj.2_Missense_Mutation_p.V66I|NEDD4_uc010bfm.3_Missense_Mutation_p.V66I|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	66					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TGAGACTGAACGTTTTCCTTT	0.408													T	56208834	C	T	56208834	3	4	12	1	0	0	0	0	1	0	0	0	10386	536	19	1	3863	1	NEDD4	15	56208834	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	15926346	56208834	46322558	52	849											
SCNN1G	6340	broad.mit.edu	37	chr16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctatcattgcccgccGccagtggcagaaagccaagg	9	8	10	14	2	2	1	1	0	1	1	3	1	2	1	4	2	2	1	4	2	3	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:23226531G>A	uc002dlm.1	+	12	1830	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	564					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.R564H(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587													A	23226531	G	A	23226531	3	1	12	1	0	0	0	0	1	0	0	0	14023	1087	38	1	1737	1	SCNN1G	16	23226531	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08		23226531	67128222	53	850											
CHD9	80205	broad.mit.edu	37	chr16	53289572	53289572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaggtgcttatggtgctAttatggaggaagaagatgaa	14	10	15	2	0	0	4	0	1	0	3	0	7	0	6	0	4	2	2	0	4	7	3			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:53289572A>G	uc002ehb.3	+	17	4254	c.4090A>G	c.(4090-4092)Att>Gtt	p.I1364V	CHD9_uc002egy.3_Missense_Mutation_p.I1364V|CHD9_uc002ehc.3_Missense_Mutation_p.I1364V|CHD9_uc002ehf.3_Missense_Mutation_p.I478V|CHD9_uc002ehg.2_Missense_Mutation_p.I478V|CHD9_uc002ehd.2_Missense_Mutation_p.I890V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1364					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TTATGGTGCTATTATGGAGGA	0.348													G	53289572	A	G	53289572	3	3	12	1	0	0	0	0	1	0	0	0	3362	449	16	3	4160	3	CHD9	16	53289572	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	30063041	53289572	37065181	54	851											
CDH16	1014	broad.mit.edu	37	chr16	66946751	66946751	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtgggaattgggggagccGggggcatctgcatcctctgc	6	8	17	10	2	2	0	0	0	2	0	3	2	3	2	2	5	3	2	2	5	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:66946751G>T	uc002eql.3	-	9	1292	c.1098C>A	c.(1096-1098)ccC>ccA	p.P366P	CDH16_uc010cdy.3_Silent_p.P366P|CDH16_uc021tjx.1_Silent_p.P366P|CDH16_uc002eqm.3_Silent_p.P269P	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	366	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGGGGGAGCCGGGGGCATCTG	0.612													T	66946751	G	T	66946751	2	4	12	1	0	0	0	0	0	0	0	1	3131	1103	39	4		4	CDH16	16	66946751	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	13657179	66946751	23408002	55	852											
PLCG2	5336	broad.mit.edu	37	chr16	81968079	81968079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaccagtccatcgccatcGagctctctgacctggttgtc	8	10	9	14	2	1	2	0	1	1	1	6	3	2	2	4	1	2	2	4	1	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr16:81968079G>A	uc002fgt.3	+	25	2963	c.2785G>A	c.(2785-2787)Gag>Aag	p.E929K		NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	929					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.I928I(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CATCGCCATCGAGCTCTCTGA	0.478													A	81968079	G	A	81968079	3	1	12	1	0	0	0	0	1	0	0	0	12113	1059	37	1	2883	1	PLCG2	16	81968079	Missense_Mutation	SNP	G	TCGA-06-0126-01A-01D-1490-08	15021328	81968079	8386674	56	853											
HEXIM2	124790	broad.mit.edu	37	chr17	43246862	43246862	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtgatgggcggggcCgagcgcacggtgagttccag	7	5	20	9	4	0	2	0	2	0	0	1	4	1	3	2	5	1	2	2	5	0	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:43246862C>T	uc002iik.1	-	1		c.1358G>A			HEXIM2_uc002iih.1_Nonsense_Mutation_p.R183*|HEXIM2_uc010daf.1_Nonsense_Mutation_p.R205*|HEXIM2_uc002iii.1_Nonsense_Mutation_p.R183*|HEXIM2_uc002iij.1_Nonsense_Mutation_p.R183*			Q96MH2	HEXI2_HUMAN	Homo sapiens cDNA FLJ39466 fis, clone PROST2012353.						negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						TGGGCGGGGCCGAGCGCACGG	0.647													T	43246862	C	T	43246862	4	4	12	1	0	0	0	0	0	1	0	0	7132	644	23	1	553	1	HEXIM2	17	43246862	Nonsense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		43246862	37948348	57	854											
TEX2	55852	broad.mit.edu	37	chr17	62272375	62272375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtcttaaggttccaccCtcaagtcgaacaaagactga	15	8	8	10	1	2	2	1	1	1	1	4	4	3	2	2	1	1	1	2	1	5	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr17:62272375C>A	uc002jed.3	-	2	1876	c.1725G>T	c.(1723-1725)gaG>gaT	p.E575D	TEX2_uc002jec.3_Missense_Mutation_p.E575D|TEX2_uc002jee.3_Missense_Mutation_p.E575D	NM_018469	NP_060939	Q8IWB9	TEX2_HUMAN	Homo sapiens testis expressed 2 (TEX2), mRNA.	575					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGGTTCCACCCTCAAGTCGAA	0.423													A	62272375	C	A	62272375	3	1	12	1	0	0	0	0	1	0	0	0	15881	680	24	4	1719	4	TEX2	17	62272375	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	19025513	62272375	18922835	58	855											
MUC16	94025	broad.mit.edu	37	chr19	9085127	9085127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatctgatgctactgtggAcaagccaggtggacctgcgc	9	9	12	11	1	1	1	0	1	1	0	1	3	1	3	2	3	5	1	2	3	3	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9085127A>G	uc002mkp.3	-	0	6892	c.6688T>C	c.(6688-6690)Tcc>Ccc	p.S2230P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2230	Ser-rich.|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						GCTACTGTGGACAAGCCAGGT	0.488													G	9085127	A	G	9085127	3	3	12	1	0	0	0	0	1	0	0	0	10049	275	10	3	37171	3	MUC16	19	9085127	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08		9085127	50043856	59	856											
OR7G2	390882	broad.mit.edu	37	chr19	9213088	9213088	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgagggaacacagaatAcatcactgaagccactgcag	15	7	9	10	0	1	3	1	2	0	1	1	4	1	4	1	1	4	1	1	1	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:9213088A>T	uc010xkk.2	-	0	895	c.895T>A	c.(895-897)Tat>Aat	p.Y299N		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AACACAGAATACATCACTGAA	0.453													T	9213088	A	T	9213088	3	4	12	1	0	0	0	0	1	0	0	0	11299	391	14	5	144	5	OR7G2	19	9213088	Missense_Mutation	SNP	A	TCGA-06-0126-01A-01D-1490-08	127961	9213088	49915895	60	857											
PKN1	5585	broad.mit.edu	37	chr19	14574778	14574778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatccgaggcccggaccaCggggtaaggaaggagggccc	10	2	18	11	3	0	0	0	0	0	0	1	5	1	4	4	8	0	1	4	8	2	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:14574778C>T	uc002myp.3	+	10	1802	c.1634C>T	c.(1633-1635)aCg>aTg	p.T545M	PKN1_uc002myq.3_Missense_Mutation_p.T551M	NM_002741	NP_002732	Q16512	PKN1_HUMAN	Homo sapiens protein kinase N1 (PKN1), transcript variant 2, mRNA.	545					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCCCGGACCACGGGGTAAGGA	0.672													T	14574778	C	T	14574778	3	4	12	1	0	0	0	0	1	0	0	0	12056	536	19	1	1719	1	PKN1	19	14574778	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08	5361690	14574778	44554205	61	858											
TMEM59L	25789	broad.mit.edu	37	chr19	18731283	18731283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctgtacccgccgccGtcccacgcctgtgaggacag	5	6	12	18	4	0	1	0	1	0	0	1	2	1	2	7	2	1	1	7	2	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:18731283G>A	uc002njy.4	+	7	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	322						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						ACCCGCCGCCGTCCCACGCCT	0.642													A	18731283	G	A	18731283	2	1	12	1	0	0	0	0	0	0	0	1	16286	1132	40	1		1	TMEM59L	19	18731283	Silent	SNP	G	TCGA-06-0126-01A-01D-1490-08	4156505	18731283	40397700	62	859											
ZNF135	7694	broad.mit.edu	37	chr19	58579144	58579144	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaccgagcatcggaggaTtcacacaggagagaagccct	12	5	12	12	2	1	2	1	1	0	1	2	7	1	5	3	3	2	1	3	3	1	1			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr19:58579144T>G	uc002qrg.3	+	3	1367	c.1364T>G	c.(1363-1365)aTt>aGt	p.I455S	ZNF135_uc002qre.3_Missense_Mutation_p.I431S|ZNF135_uc002qrf.3_Missense_Mutation_p.I389S|ZNF135_uc010yhq.2_Missense_Mutation_p.I443S|ZNF135_uc010yhr.2_Missense_Mutation_p.I252S|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	443					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CATCGGAGGATTCACACAGGA	0.547													G	58579144	T	G	58579144	3	3	12	1	0	0	0	0	1	0	0	0	17826	1493	52	5	1495	5	ZNF135	19	58579144	Missense_Mutation	SNP	T	TCGA-06-0126-01A-01D-1490-08	39847861	58579144	549839	63	860											
ABCG1	9619	broad.mit.edu	37	chr21	43708133	43708133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacccttttctttggcacCggccctctgaagaggtaaag	9	11	10	11	1	2	3	0	2	2	1	2	3	2	3	3	3	1	2	3	3	4	4			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr21:43708133C>T	uc011aev.2	+	8	1215	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	ABCG1_uc002zam.3_Missense_Mutation_p.R348W|ABCG1_uc002zan.3_Missense_Mutation_p.R372W|ABCG1_uc002zao.3_Missense_Mutation_p.R367W|ABCG1_uc002zap.3_Missense_Mutation_p.R370W|ABCG1_uc002zaq.3_Missense_Mutation_p.R370W|ABCG1_uc002zar.3_Missense_Mutation_p.R381W|ABCG1_uc010gpb.2_5'UTR	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	370					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	TCTTTGGCACCGGCCCTCTGA	0.577													T	43708133	C	T	43708133	3	4	12	1	0	0	0	0	1	0	0	0	68	643	23	1	1310	1	ABCG1	21	43708133	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		43708133	4421762	64	861											
SREBF2	6721	broad.mit.edu	37	chr22	42276831	42276831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcctggaacgtgatcCgctacagcctgcagaagcta	9	8	10	14	2	1	2	0	1	1	1	3	3	2	3	4	1	5	3	4	1	4	2			TCGA-06-0126-01A-01D-1490-08	TCGA-06-0126-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3c3059d-e2fb-45ea-80b5-99fb040cba29	3f736ddc-4f66-45eb-98dc-0c8b68b790a0	g.chr22:42276831C>T	uc003bbi.3	+	9	2042	c.1873C>T	c.(1873-1875)Cgc>Tgc	p.R625C	bK250D10.C22.8_uc003bba.1_Intron|SREBF2_uc003bbj.3_Non-coding_Transcript	NM_004599	NP_004590	Q12772	SRBP2_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 2 (SREBF2), mRNA.	625					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GAACGTGATCCGCTACAGCCT	0.647													T	42276831	C	T	42276831	3	4	12	1	0	0	0	0	1	0	0	0	15238	652	23	1	1911	1	SREBF2	22	42276831	Missense_Mutation	SNP	C	TCGA-06-0126-01A-01D-1490-08		42276831	9027735	65	862											
SLC45A1	50651	broad.mit.edu	37	chr1	8403928	8403928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggggcccctgacctcggCcgtgggcagtgccaacgggg	4	5	17	15	3	0	1	0	1	0	0	1	1	0	1	6	6	2	1	6	6	1	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:8403928C>T	uc001apb.3	+	7	2102	c.2102C>T	c.(2101-2103)gCc>gTc	p.A701V	SLC45A1_uc001apc.3_Missense_Mutation_p.A399V	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	701					carbohydrate transport	integral to membrane	symporter activity	p.A701V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CTGACCTCGGCCGTGGGCAGT	0.617													T	8403928	C	T	8403928	3	4	13	1	0	0	0	0	1	0	0	0	14734	739	26	2	2132	2	SLC45A1	1	8403928	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		8403928	240846693	1	863											
ZNF644	84146	broad.mit.edu	37	chr1	91405171	91405171	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtaggtagctgattttttGgatgatcctactacagagtc	10	15	10	6	0	0	3	0	2	0	1	2	4	1	4	1	2	3	3	1	2	4	7			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:91405171G>C	uc001dnw.3	-	2	2023	c.1740C>G	c.(1738-1740)tcC>tcG	p.S580S	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Silent_p.S580S	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTGATTTTTTGGATGATCCTA	0.383													C	91405171	G	C	91405171	2	2	13	1	0	0	0	0	0	0	0	1	18161	1335	47	4		4	ZNF644	1	91405171	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	83001243	91405171	157845450	2	864											
ANKRD35	148741	broad.mit.edu	37	chr1	145558859	145558859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtacacccctgatgatcGcatcgctgggtgggcacgca	8	7	13	13	4	0	2	0	2	0	0	2	3	0	2	2	2	1	5	2	2	1	1	rs150752253	byFrequency	TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:145558859G>A	uc001eob.1	+	6	586	c.478G>A	c.(478-480)Gca>Aca	p.A160T	ANKRD35_uc010oyx.1_Missense_Mutation_p.A3T	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	160								p.A160T(2)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CCTGATGATCGCATCGCTGGG	0.577													A	145558859	G	A	145558859	3	1	13	1	0	0	0	0	1	0	0	0	664	1087	38	1	504	1	ANKRD35	1	145558859	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	54153688	145558859	103691762	3	865											
SLC45A3	85414	broad.mit.edu	37	chr1	205632669	205632669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgaagggccggcggcGgccatagcgtccacgccagt	8	4	15	14	5	0	2	0	1	0	1	1	2	1	2	5	4	1	0	5	4	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:205632669G>A	uc001hda.1	-	2	589	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_5'UTR|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	84					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGCCGGCGGCGGCCATAGCGT	0.637			T	"ETV1, ETV5, ELK4, ERG"	prostate								A	205632669	G	A	205632669	3	1	13	1	0	0	0	0	1	0	0	0	14736	1116	39	1	1423	1	SLC45A3	1	205632669	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	60073810	205632669	43617952	4	866											
FAM177B	400823	broad.mit.edu	37	chr1	222919976	222919976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggattatccattttgttgAcggagacatcatggaagaat	14	12	10	5	1	1	3	1	1	0	2	2	6	2	5	1	3	0	1	1	3	4	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:222919976A>G	uc001hnt.3	+	2	355	c.89A>G	c.(88-90)gAc>gGc	p.D30G	AK094916_uc001hnr.1_Intron|FAM177B_uc009xeb.3_Non-coding_Transcript	NM_207468	NP_997351	A6PVY3	F177B_HUMAN	Homo sapiens family with sequence similarity 177, member B (FAM177B), mRNA.	30										breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	8						CATTTTGTTGACGGAGACATC	0.408													G	222919976	A	G	222919976	3	3	13	1	0	0	0	0	1	0	0	0	5547	275	10	3	91	3	FAM177B	1	222919976	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	17287307	222919976	26330645	5	867											
EXO1	9156	broad.mit.edu	37	chr1	242048792	242048792	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactcaatgagctctggaaAaactttggatttaaaaagtg	17	11	8	5	0	2	1	1	1	1	0	2	3	2	3	0	2	3	1	0	2	7	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr1:242048792A>G	uc021plj.1	+	12	2702	c.2388A>G	c.(2386-2388)aaA>aaG	p.K796K	EXO1_uc001hzh.3_Silent_p.K796K|EXO1_uc009xgq.3_Silent_p.K795K|EXO1_uc021plk.1_Silent_p.K796K	NM_006027	NP_569082	Q9UQ84	EXO1_HUMAN	Homo sapiens exonuclease 1 (EXO1), transcript variant 1, mRNA.	796	Interaction with MLH1.|Interaction with MSH2.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			AGCTCTGGAAAAACTTTGGAT	0.418								Editing and processing nucleases					G	242048792	A	G	242048792	2	3	13	1	0	0	0	0	0	0	0	1	5341	11	1	3		3	EXO1	1	242048792	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	19128816	242048792	7201829	6	868											
WDR43	23160	broad.mit.edu	37	chr2	29158460	29158460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcatactattattcCgttgttacaagaggtaactg	10	13	8	10	1	0	1	0	0	0	1	1	1	1	1	3	1	4	4	3	1	6	7			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:29158460C>T	uc002rmo.2	+	11	1543	c.1511C>T	c.(1510-1512)cCg>cTg	p.P504L		NM_015131	NP_055946	Q15061	WDR43_HUMAN	Homo sapiens WD repeat domain 43 (WDR43), mRNA.	504						nucleolus				breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	20	Acute lymphoblastic leukemia(172;0.155)					ACTATTATTCCGTTGTTACAA	0.328													T	29158460	C	T	29158460	3	4	13	1	0	0	0	0	1	0	0	0	17397	652	23	1	1557	1	WDR43	2	29158460	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		29158460	214040913	7	869											
THADA	63892	broad.mit.edu	37	chr2	43804328	43804328	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctcctgcagctgctcatAaaccactcggggacactggt	9	8	11	13	1	1	0	1	0	0	0	3	1	2	1	2	4	4	4	2	4	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:43804328A>T	uc002rsw.4	-	9	1222	c.870T>A	c.(868-870)ttT>ttA	p.F290L	THADA_uc002rsx.4_Missense_Mutation_p.F290L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_5'Flank|THADA_uc002rsz.3_5'UTR|THADA_uc002rta.2_5'UTR|THADA_uc002rtb.1_Missense_Mutation_p.F290L|THADA_uc002rtc.4_Missense_Mutation_p.F290L|THADA_uc002rtd.3_Missense_Mutation_p.F290L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	290							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGCTGCTCATAAACCACTCGG	0.478											OREG0014580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	43804328	A	T	43804328	3	4	13	1	0	0	0	0	1	0	0	0	15940	359	13	5	5107	5	THADA	2	43804328	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	14645868	43804328	199395045	8	870											
SLC3A1	6519	broad.mit.edu	37	chr2	44528234	44528234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcttccggcagaccatGgaccaatacagcacggagcc	11	4	11	15	3	0	1	0	0	0	1	1	3	1	3	4	3	4	4	4	3	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:44528234G>C	uc002ruc.4	+	5	1182	c.1104G>C	c.(1102-1104)atG>atC	p.M368I	SLC3A1_uc002rty.3_Missense_Mutation_p.M368I|SLC3A1_uc002rtz.2_Missense_Mutation_p.M368I|SLC3A1_uc002rua.3_Missense_Mutation_p.M368I|SLC3A1_uc002rub.2_Missense_Mutation_p.M368I|SLC3A1_uc002rud.4_Missense_Mutation_p.M90I|SLC3A1_uc002rue.4_5'Flank	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	368					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGCAGACCATGGACCAATACA	0.532													C	44528234	G	C	44528234	3	2	13	1	0	0	0	0	1	0	0	0	14720	1348	47	4	1126	4	SLC3A1	2	44528234	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	723906	44528234	198671139	9	871											
ACVR1	90	broad.mit.edu	37	chr2	158626971	158626971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggagaagatcttcacGgcaacattctccccttgcca	10	8	10	13	2	3	2	1	0	2	2	4	4	3	3	3	3	2	1	3	3	2	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:158626971G>A	uc002tzn.3	-	6	1129	c.699C>T	c.(697-699)gcC>gcT	p.A233A	ACVR1_uc002tzm.3_Silent_p.A233A|ACVR1_uc010fog.2_Silent_p.A233A	NM_001105	NP_001104537	Q04771	ACVR1_HUMAN	Homo sapiens activin A receptor, type I (ACVR1), transcript variant 1, mRNA.	233	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AGATCTTCACGGCAACATTCT	0.463													A	158626971	G	A	158626971	2	1	13	1	0	0	0	0	0	0	0	1	220	1103	39	1		1	ACVR1	2	158626971	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	114098737	158626971	84572402	10	872											
TTN	7273	broad.mit.edu	37	chr2	179528601	179528601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagggcactttctcttcGcggataacctctttggaagc	8	11	10	12	2	2	0	0	0	2	0	4	2	2	2	2	3	2	1	2	3	3	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179528601G>A	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Silent_p.R277R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTTCTCTTCGCGGATAACCT	0.423													A	179528601	G	A	179528601	2	1	13	1	0	0	0	0	0	0	0	1	16837	1102	38	1		1	TTN	2	179528601	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	20901630	179528601	63670772	11	873											
TTN	7273	broad.mit.edu	37	chr2	179575886	179575886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccggtcagttttaaaaatAttgagtgtggctgtattgtc	9	16	10	6	1	1	1	1	1	0	0	3	1	2	1	1	2	0	3	1	2	5	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:179575886A>C	uc021vsy.1	-	93	24570	c.24345T>G	c.(24343-24345)aaT>aaG	p.N8115K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N4776K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9042	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTAAAAATATTGAGTGTGG	0.448													C	179575886	A	C	179575886	3	2	13	1	0	0	0	0	1	0	0	0	16837	446	16	5	76516	5	TTN	2	179575886	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	47285	179575886	63623487	12	874											
NCKAP1	10787	broad.mit.edu	37	chr2	183860521	183860521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtcagctgaaagattccTtcgaggatataccatttgaa	12	12	9	8	1	1	3	1	2	0	1	3	5	2	4	2	2	2	1	2	2	4	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:183860521T>C	uc002upc.3	-	6	1051	c.649A>G	c.(649-651)Agg>Ggg	p.R217G	NCKAP1_uc002upb.3_Missense_Mutation_p.R223G	NM_013436	NP_038464	Q9Y2A7	NCKP1_HUMAN	Homo sapiens NCK-associated protein 1 (NCKAP1), transcript variant 1, mRNA.	217					apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			GAAAGATTCCTTCGAGGATAT	0.373													C	183860521	T	C	183860521	3	2	13	1	0	0	0	0	1	0	0	0	10297	1608	56	3	2837	3	NCKAP1	2	183860521	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	4284635	183860521	59338852	13	875											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	13	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	25252591	209113112	34086261	14	876											
BCS1L	617	broad.mit.edu	37	chr2	219527689	219527689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcttccaccgaggccCgcatcgtgttcatgaccacc	6	9	11	15	3	1	1	1	1	0	0	3	2	2	1	5	2	0	3	5	2	0	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:219527689C>T	uc002vip.3	+	7	1319	c.973C>T	c.(973-975)Cgc>Tgc	p.R325C	BCS1L_uc002viq.3_Missense_Mutation_p.R325C|BCS1L_uc010fvu.3_Missense_Mutation_p.R325C|BCS1L_uc010fvv.3_Missense_Mutation_p.R325C|BCS1L_uc002vis.3_Missense_Mutation_p.R325C|BCS1L_uc021vwz.1_Missense_Mutation_p.R325C	NM_004328	NP_004319	Q9Y276	BCS1_HUMAN	Homo sapiens BCS1-like (S. cerevisiae) (BCS1L), transcript variant 1, mRNA.	325					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGAGGCCCGCATCGTGTT	0.577													T	219527689	C	T	219527689	3	4	13	1	0	0	0	0	1	0	0	0	1394	652	23	1	995	1	BCS1L	2	219527689	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	10414577	219527689	23671684	15	877											
ANO7	50636	broad.mit.edu	37	chr2	242147068	242147068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctggctgctctccagcGcctgtgccctggcccaggta	3	11	11	16	1	2	0	0	0	2	0	3	0	2	0	4	3	3	3	4	3	1	2	rs137878201		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr2:242147068G>A	uc002wax.2	+	10	1325	c.1222G>A	c.(1222-1224)Gcc>Acc	p.A408T		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	408						cell junction|chloride channel complex|cytosol	chloride channel activity	p.S407S(1)		NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCTCTCCAGCGCCTGTGCCCT	0.622													A	242147068	G	A	242147068	3	1	13	1	0	0	0	0	1	0	0	0	702	1087	38	1	1336	1	ANO7	2	242147068	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	22619379	242147068	1052305	16	878											
FGD5	152273	broad.mit.edu	37	chr3	14862089	14862089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaagaaaccggacctgAggcgggctcgtcagcccctg	8	5	13	15	3	1	3	1	2	0	1	2	4	1	4	5	3	2	1	5	3	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:14862089A>G	uc003bzc.3	+	0	1621	c.1511A>G	c.(1510-1512)gAg>gGg	p.E504G	FGD5_uc011avk.2_Missense_Mutation_p.E504G	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	504					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						ACCGGACCTGAGGCGGGCTCG	0.637													G	14862089	A	G	14862089	3	3	13	1	0	0	0	0	1	0	0	0	5885	304	11	3	1513	3	FGD5	3	14862089	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08		14862089	183160341	17	879											
KALRN	8997	broad.mit.edu	37	chr3	124438292	124438292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcaagagctacattgTcaaccgggtgaaccaaggga	14	7	11	9	1	2	2	2	1	0	1	2	3	2	3	2	2	4	1	2	2	6	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:124438292T>C	uc003ehg.3	+	59	9063	c.8936T>C	c.(8935-8937)gTc>gCc	p.V2979A	KALRN_uc003ehk.3_Missense_Mutation_p.V1282A	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	2978					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCTACATTGTCAACCGGGTG	0.502													C	124438292	T	C	124438292	3	2	13	1	0	0	0	0	1	0	0	0	8033	1667	58	3	9330	3	KALRN	3	124438292	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	109576203	124438292	73584138	18	880											
COL6A5	256076	broad.mit.edu	37	chr3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaccttttgtaaagaCggaagacaatggaagtgact	16	9	10	6	1	1	4	1	1	0	3	1	6	1	6	1	2	0	1	1	2	6	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:130174391C>T	uc010htj.1	+	36	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2224	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T	130174391	C	T	130174391	3	4	13	1	0	0	0	0	1	0	0	0	3733	536	19	1	6813	1	COL6A5	3	130174391	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	5736099	130174391	67848039	19	881											
ATR	545	broad.mit.edu	37	chr3	142188272	142188272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaacaaaaacttcatcGtgagaatgacaaattcgaga	20	7	7	7	2	1	4	1	2	0	3	3	6	1	4	0	0	2	0	0	0	6	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:142188272G>A	uc003eux.4	-	37	6581	c.6459C>T	c.(6457-6459)caC>caT	p.H2153H	ATR_uc003euy.1_Silent_p.H39H	NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	2153	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						AAACTTCATCGTGAGAATGAC	0.343								Other conserved DNA damage response genes					A	142188272	G	A	142188272	2	1	13	1	0	0	0	0	0	0	0	1	1209	1136	40	1		1	ATR	3	142188272	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	12013881	142188272	55834158	20	882											
ABCC5	10057	broad.mit.edu	37	chr3	183700632	183700632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgccatggttaggatggccCcccgcaagcggacaccggtt	8	7	13	13	3	0	0	0	0	0	0	0	2	0	2	5	5	2	3	5	5	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr3:183700632C>G	uc003fmg.3	-	5	920	c.755G>C	c.(754-756)gGg>gCg	p.G252A	ABCC5_uc011bqt.2_5'UTR|ABCC5_uc010hxl.3_Missense_Mutation_p.G252A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	252	ABC transmembrane type-1 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.R251L(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TAGGATGGCCCCCCGCAAGCG	0.507													G	183700632	C	G	183700632	3	3	13	1	0	0	0	0	1	0	0	0	56	623	22	4	3658	4	ABCC5	3	183700632	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	41512360	183700632	14321798	21	883											
FAM193A	8603	broad.mit.edu	37	chr4	2698176	2698176	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaggaaagaggagcaaccTaaaaaaatggaccagatctc	20	4	10	7	0	1	3	0	0	1	3	2	6	1	6	2	3	2	1	2	3	7	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:2698176T>C	uc010ick.3	+	16	3091	c.3090T>C	c.(3088-3090)ccT>ccC	p.P1030P	FAM193A_uc003gfd.3_Silent_p.P830P|FAM193A_uc011bvm.2_Silent_p.P852P|FAM193A_uc011bvn.2_Silent_p.P830P|FAM193A_uc010icl.3_Silent_p.P830P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.P684P	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	830										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						AGGAGCAACCTAAAAAAATGG	0.453													C	2698176	T	C	2698176	2	2	13	1	0	0	0	0	0	0	0	1	5571	1509	53	3		3	FAM193A	4	2698176	Silent	SNP	T	TCGA-06-0128-01A-01D-1490-08		2698176	188456100	22	884											
SLIT2	9353	broad.mit.edu	37	chr4	20547701	20547701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcccaaggaactctccaActacaaacatttaacactta	15	10	4	12	0	1	0	0	0	1	0	3	1	2	1	2	2	5	1	2	2	7	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:20547701A>G	uc003gpr.1	+	21	2528	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	SLIT2_uc003gps.1_Missense_Mutation_p.N767S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	775					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.N775S(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAACTCTCCAACTACAAACAT	0.358													G	20547701	A	G	20547701	3	3	13	1	0	0	0	0	1	0	0	0	14834	43	2	3	2410	3	SLIT2	4	20547701	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	17849525	20547701	170606575	23	885											
KDR	3791	broad.mit.edu	37	chr4	55958819	55958819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactccatgcccttagccaCttggaagctgtaacagatga	12	9	9	11	0	0	2	0	1	0	1	1	4	1	3	3	1	5	2	3	1	4	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:55958819C>T	uc003has.3	-	21	3336	c.3034G>A	c.(3034-3036)Gtg>Atg	p.V1012M	KDR_uc003hat.1_Missense_Mutation_p.V1012M	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1012	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTTAGCCACTTGGAAGCTG	0.463			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55958819	C	T	55958819	3	4	13	1	0	0	0	0	1	0	0	0	8197	565	20	2	1072	2	KDR	4	55958819	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	35411118	55958819	135195457	24	886											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68784796	68784796	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatgtcatccgaaaaggTgactctggaagagacctgca	12	8	12	9	2	2	2	1	1	1	1	3	5	3	3	2	2	1	2	2	2	4	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:68784796T>G	uc003hdr.1	-	7	977	c.856A>C	c.(856-858)Acc>Ccc	p.T286P	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Missense_Mutation_p.T283P	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	286	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						TCCGAAAAGGTGACTCTGGAA	0.433													G	68784796	T	G	68784796	3	3	13	1	0	0	0	0	1	0	0	0	16339	1696	59	5	421	5	TMPRSS11A	4	68784796	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	12825977	68784796	122369480	25	887											
UGT2B10	7365	broad.mit.edu	37	chr4	69874638	69874638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgacattgtgttgaagTccactctaacagctgttccc	9	13	7	12	1	1	1	0	1	1	0	4	2	3	1	2	0	3	3	2	0	3	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:69874638T>C	uc011cao.1	-	6	1238	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	UGT2B10_uc011can.1_Missense_Mutation_p.D287G			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	415					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGTGTTGAAGTCCACTCTAAC	0.403													C	69874638	T	C	69874638	3	2	13	1	0	0	0	0	1	0	0	0	17058	1667	58	3	1961	3	UGT2B10	4	69874638	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	1089842	69874638	121279638	26	888											
ADAM29	11086	broad.mit.edu	37	chr4	175897388	175897388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggattccattttggatGtcattggtgttaaggtgtta	8	18	12	3	0	1	0	1	0	0	0	2	2	2	2	1	4	0	2	1	4	3	7	rs148389603		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr4:175897388G>C	uc003iuc.3	+	4	1382	c.712G>C	c.(712-714)Gtc>Ctc	p.V238L	ADAM29_uc003iud.3_Missense_Mutation_p.V238L|ADAM29_uc010irr.3_Missense_Mutation_p.V238L|ADAM29_uc011cki.2_Missense_Mutation_p.V238L|ADAM29_uc021xuo.1_Missense_Mutation_p.V238L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	238	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CATTTTGGATGTCATTGGTGT	0.348													C	175897388	G	C	175897388	3	2	13	1	0	0	0	0	1	0	0	0	247	1377	48	4	714	4	ADAM29	4	175897388	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	106022750	175897388	15256888	27	889											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:67589138G>C	uc003jva.3	+	9	1706	c.1126G>C	c.(1126-1128)Gga>Cga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67589138	G	C	67589138	3	2	13	1	0	0	0	0	1	0	0	0	11995	1233	43	4	1290	4	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		67589138	113326122	28	890											
PCDHAC2	56140	broad.mit.edu	37	chr5	140222411	140222411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcggcgggtgggcgagcGctcgctgtcgagctacattt	5	8	18	10	6	0	0	0	0	0	0	2	3	0	1	0	4	4	3	0	4	1	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140222411G>A	uc003lhs.2	+	0	1505	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R502H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	516	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGCGAGCGCTCGCTGTCG	0.672													A	140222411	G	A	140222411	3	1	13	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140222411	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	72633273	140222411	40692849	29	891											
PCDHGC5	26025	broad.mit.edu	37	chr5	140810513	140810513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgggagctcgcggagcgcGgagtccgcatcatccccaga	7	4	14	16	6	1	1	1	0	0	1	4	4	3	4	4	3	2	2	4	3	0	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:140810513G>A	uc003lkt.2	+	0	356	c.187G>A	c.(187-189)Gga>Aga	p.G63R	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.G63R	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	63	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGCGCGGAGTCCGCAT	0.652													A	140810513	G	A	140810513	3	1	13	1	0	0	0	0	1	0	0	0	11647	1117	39	1		1	PCDHGC5	5	140810513	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	588102	140810513	40104747	30	892											
ODZ2	57451	broad.mit.edu	37	chr5	167553791	167553791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactgtggcactcacggcGtctgcatcgggggagcctgc	6	8	15	12	3	2	1	1	0	1	1	3	2	2	2	1	4	3	2	1	4	1	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr5:167553791G>A	uc010jjd.3	+	11	2242	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I	ODZ2_uc003lzr.4_Missense_Mutation_p.V516I|ODZ2_uc003lzt.4_Missense_Mutation_p.V112I|ODZ2_uc010jje.3_Missense_Mutation_p.V19I	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CACTCACGGCGTCTGCATCGG	0.587													A	167553791	G	A	167553791	3	1	13	1	0	0	0	0	1	0	0	0	10911	1145	40	1	2288	1	ODZ2	5	167553791	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	26743278	167553791	13361469	31	893											
PPIL6	285755	broad.mit.edu	37	chr6	109752491	109752491	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatgcatcacccagaaactGaccattaacaaaagaaatca	20	6	4	11	0	2	3	2	1	0	2	2	3	2	3	2	0	3	1	2	0	6	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr6:109752491G>A	uc010kdp.3	-	2	870	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	PPIL6_uc003ptg.4_Nonsense_Mutation_p.Q97*|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	97					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		CCCAGAAACTGACCATTAACA	0.403													A	109752491	G	A	109752491	4	1	13	1	0	0	0	0	0	1	0	0	12413	1299	45	2	752	2	PPIL6	6	109752491	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		109752491	61362576	32	894											
HOXA2	3199	broad.mit.edu	37	chr7	27142031	27142031	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaactttgaaatgtaTcagcgacagggggaaaagat	15	10	12	4	1	1	4	1	3	0	1	1	6	1	5	0	2	2	1	0	2	5	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:27142031T>A	uc003syh.3	-	0	364	c.89A>T	c.(88-90)gAt>gTt	p.D30V	HOXA2_uc022aaq.1_Missense_Mutation_p.D30V	NM_006735	NP_006726	O43364	HXA2_HUMAN	Homo sapiens homeobox A2 (HOXA2), mRNA.	30						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TTGAAATGTATCAGCGACAGG	0.493													A	27142031	T	A	27142031	3	1	13	1	0	0	0	0	1	0	0	0	7347	1435	50	5	1049	5	HOXA2	7	27142031	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		27142031	131996632	33	895											
GCK	2645	broad.mit.edu	37	chr7	44189583	44189583	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcacccctctccgtttgatAgcgtctcgcagaagccccac	7	9	7	18	3	3	2	1	1	2	1	5	2	3	2	5	0	2	2	5	0	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:44189583A>G	uc003tkl.2	-	4	1034	c.564T>C	c.(562-564)gcT>gcC	p.A188A	GCK_uc003tkj.1_Silent_p.A187A|GCK_uc003tkk.1_Silent_p.A189A	NM_000162	NP_000153	P35557	HXK4_HUMAN	Homo sapiens glucokinase (hexokinase 4) (GCK), transcript variant 1, mRNA.	188			A -> T (in MODY2; large increase in Km for glucose).		cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						TCCGTTTGATAGCGTCTCGCA	0.632													G	44189583	A	G	44189583	2	3	13	1	0	0	0	0	0	0	0	1	6347	407	15	3		3	GCK	7	44189583	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	17047552	44189583	114949080	34	896											
MAGI2	9863	broad.mit.edu	37	chr7	77797372	77797372	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagctcatctcctgggtgAaggcggccatctctgtcggc	7	9	12	13	2	3	1	1	1	2	0	6	1	3	1	2	4	1	1	2	4	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:77797372A>T	uc003ugx.3	-	14	2711	c.2457T>A	c.(2455-2457)ctT>ctA	p.L819L	MAGI2_uc003ugy.3_Silent_p.L805L|MAGI2_uc010ldx.1_Silent_p.L412L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	819	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				CTCCTGGGTGAAGGCGGCCAT	0.517													T	77797372	A	T	77797372	2	4	13	1	0	0	0	0	0	0	0	1	9266	233	9	5		5	MAGI2	7	77797372	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	33607789	77797372	81341291	35	897											
SAMD9L	219285	broad.mit.edu	37	chr7	92763379	92763379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagaagatccacgggcggGcaaaaaccttcttgatgacc	13	7	11	10	2	1	5	0	3	1	2	2	5	2	5	3	2	1	1	3	2	4	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:92763379G>A	uc003umh.1	-	4	3122	c.1906C>T	c.(1906-1908)Ccc>Tcc	p.P636S	SAMD9L_uc003umj.1_Missense_Mutation_p.P636S|SAMD9L_uc003umi.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfb.1_Missense_Mutation_p.P636S|SAMD9L_uc003umk.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfc.1_Missense_Mutation_p.P636S|SAMD9L_uc010lfd.1_Missense_Mutation_p.P636S|SAMD9L_uc022ahh.1_Missense_Mutation_p.P636S	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	636								p.P636P(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CCACGGGCGGGCAAAAACCTT	0.398													A	92763379	G	A	92763379	3	1	13	1	0	0	0	0	1	0	0	0	13918	1203	42	2	2852	2	SAMD9L	7	92763379	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	14966007	92763379	66375284	36	898											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519285	113519285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaaacatttccagttCttgatgaacaaacttgacca	14	12	4	11	0	2	3	1	3	1	0	4	3	4	3	3	0	3	1	3	0	4	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr7:113519285C>A	uc010ljy.1	-	3	1893	c.1862G>T	c.(1861-1863)aGa>aTa	p.R621I		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	621					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATTTCCAGTTCTTGATGAACA	0.383													A	113519285	C	A	113519285	3	1	13	1	0	0	0	0	1	0	0	0	12453	913	32	4	1510	4	PPP1R3A	7	113519285	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	20755906	113519285	45619378	37	899											
TUSC3	7991	broad.mit.edu	37	chr8	15519674	15519674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttttgcagattcgggttTtcagaccacccaactactct	9	14	6	12	1	2	2	1	0	1	2	3	2	2	2	2	1	3	2	2	1	2	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr8:15519674T>C	uc003wwt.3	+	4	921	c.577T>C	c.(577-579)Ttc>Ctc	p.F193L	TUSC3_uc003wwu.3_Missense_Mutation_p.F193L	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	193					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.F193L(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GATTCGGGTTTTCAGACCACC	0.353													C	15519674	T	C	15519674	3	2	13	1	0	0	0	0	1	0	0	0	16880	1841	64	3	595	3	TUSC3	8	15519674	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		15519674	130844348	38	900											
LINGO2	158038	broad.mit.edu	37	chr9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T																															ttcttttcacggattttgggINSttttttgcaggtaaagtaaa																										TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:27949442_27949443insT	uc003zqv.1	-	6	1877_1878	c.1227_1228insA	c.(1225-1230)aaacccfs	p.K409fs	LINGO2_uc010mjf.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc003zqu.1_Frame_Shift_Ins_p.K409fs|LINGO2_uc022bfc.1_Frame_Shift_Ins_p.K409fs	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	409	LRRCT.					integral to membrane		p.P410T(3)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49													T	27949443	-	T	27949442	7	5	13	1	0	1	1	0	0	0	0	0	8876	1261	44	0	596	0	LINGO2	9	27949442	Frame_Shift_Ins	INS	-	TCGA-06-0128-01A-01D-1490-08		27949442	113263989	39	901											
TRIM32	22954	broad.mit.edu	37	chr9	119461599	119461599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgatgctgagggcacCgtctacttcacccagggctt	7	10	11	13	1	2	2	1	2	1	0	2	2	2	2	3	2	2	3	3	2	1	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:119461599C>T	uc022bmo.1	+	0	1578	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	ASTN2_uc022bml.1_Intron|ASTN2_uc022bmm.1_Intron|ASTN2_uc004bjt.2_Intron|TRIM32_uc004bjw.2_Silent_p.T526T|TRIM32_uc004bjx.2_Silent_p.T526T	NM_012210	NP_036342	Q13049	TRI32_HUMAN	Homo sapiens tripartite motif containing 32 (TRIM32), transcript variant 1, mRNA.	526					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.T526T(2)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						CTGAGGGCACCGTCTACTTCA	0.542													T	119461599	C	T	119461599	2	4	13	1	0	0	0	0	0	0	0	1	16607	639	23	1		1	TRIM32	9	119461599	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08	91512157	119461599	21751832	40	902											
GARNL3	84253	broad.mit.edu	37	chr9	130155514	130155514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggctttctccgatgaagAcattatagacttgaagtaac	13	11	8	9	2	1	4	0	2	1	2	2	5	1	4	1	1	1	2	1	1	5	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr9:130155514A>G	uc011mae.2	+	27	3424	c.3023A>G	c.(3022-3024)gAc>gGc	p.D1008G	GARNL3_uc011mad.2_Missense_Mutation_p.D986G|GARNL3_uc010mxi.3_Missense_Mutation_p.D238G	NM_032293	NP_115669	Q5VVW2	GARL3_HUMAN	Homo sapiens GTPase activating Rap/RanGAP domain-like 3 (GARNL3), mRNA.	1008					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TCCGATGAAGACATTATAGAC	0.483													G	130155514	A	G	130155514	3	3	13	1	0	0	0	0	1	0	0	0	6295	275	10	3	3133	3	GARNL3	9	130155514	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	10693915	130155514	11057917	41	903											
RRP8	23378	broad.mit.edu	37	chr11	6622635	6622635	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgggaacaggagacacctCtgtcttctctgtgggggcct	6	10	13	12	0	3	1	0	0	3	1	4	3	3	2	3	4	1	0	3	4	1	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:6622635C>G	uc001med.3	-	2	809	c.661G>C	c.(661-663)Gag>Cag	p.E221Q	ILK_uc001mee.3_5'Flank|ILK_uc001mef.3_5'Flank|ILK_uc010rap.2_5'Flank|ILK_uc010raq.2_5'Flank|ILK_uc001meh.3_5'Flank	NM_015324	NP_056139	O43159	RRP8_HUMAN	Homo sapiens ribosomal RNA processing 8, methyltransferase, homolog (yeast) (RRP8), mRNA.	221					chromatin modification|chromatin silencing at rDNA|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	methylated histone residue binding|S-adenosylmethionine-dependent methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)	13						GGAGACACCTCTGTCTTCTCT	0.607													G	6622635	C	G	6622635	3	3	13	1	0	0	0	0	1	0	0	0	13781	922	32	4	729	4	RRP8	11	6622635	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		6622635	128383881	42	904											
OR8J3	81168	broad.mit.edu	37	chr11	55904564	55904564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatactagaactgtaatcaTggaaaaaaccaaatttgttg	18	11	7	5	0	1	2	1	0	0	2	1	3	1	3	1	1	3	2	1	1	8	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:55904564T>C	uc010riz.2	-	0	631	c.631A>G	c.(631-633)Atg>Gtg	p.M211V		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	211					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					ACTGTAATCATGGAAAAAACC	0.358													C	55904564	T	C	55904564	3	2	13	1	0	0	0	0	1	0	0	0	11318	1464	51	3	318	3	OR8J3	11	55904564	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	49281929	55904564	79101952	43	905											
MS4A14	84689	broad.mit.edu	37	chr11	60164186	60164186	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggagagccaagagtcttGggggtaagtcctctccagtc	10	8	14	9	0	2	2	0	0	2	2	5	3	3	2	3	3	1	1	3	3	3	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:60164186G>T	uc001npj.3	+	0	700	c.135G>T	c.(133-135)ttG>ttT	p.L45F	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.L45F|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	45						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						CAAGAGTCTTGGGGGTAAGTC	0.423													T	60164186	G	T	60164186	3	4	13	1	0	0	0	0	1	0	0	0	9934	1339	47	4	137	4	MS4A14	11	60164186	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	4259622	60164186	74842330	44	906											
TPCN2	219931	broad.mit.edu	37	chr11	68822263	68822263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattactcgaacgtatgccaAcggtgagaacgcacccatgt	12	9	9	11	4	0	1	0	1	0	1	1	3	0	1	2	1	5	2	2	1	6	3	rs142314553		TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:68822263A>G	uc001oos.2	+	2	365	c.249A>G	c.(247-249)caA>caG	p.Q83Q	TPCN2_uc009ysk.1_Non-coding_Transcript|TPCN2_uc001oor.2_Intron|TPCN2_uc010rqg.1_Silent_p.Q83Q|TPCN2_uc021qmo.1_5'Flank	NM_139075	NP_620714	Q8NHX9	TPC2_HUMAN	Homo sapiens two pore segment channel 2 (TPCN2), mRNA.	83					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGTATGCCAACGGTGAGAAC	0.602													G	68822263	A	G	68822263	2	3	13	1	0	0	0	0	0	0	0	1	16497	40	2	3		3	TPCN2	11	68822263	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	8658077	68822263	66184253	45	907											
C1QTNF5	83552	broad.mit.edu	37	chr11	119212361	119212361	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagactggcactggtgcTccgcttcctggcagacagag	7	7	14	13	1	0	3	0	0	0	3	2	3	2	3	3	4	1	4	3	4	0	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:119212361T>G	uc010rzg.1	-	9	1443	c.1283A>C	c.(1282-1284)gAg>gCg	p.E428A	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	546	LDL-receptor class A 2.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GCACTGGTGCTCCGCTTCCTG	0.647													G	119212361	T	G	119212361	3	3	13	1	0	0	0	0	1	0	0	0	1986	1551	54	5		5	C1QTNF5	11	119212361	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	50390098	119212361	15794155	46	908											
OR10S1	219873	broad.mit.edu	37	chr11	123847740	123847740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggcagcctgcagccAcgatgccaatgctggcaagc	10	5	14	12	1	0	1	0	1	0	0	0	3	0	2	3	3	6	4	3	3	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:123847740A>G	uc001pzm.1	-	0	659	c.659T>C	c.(658-660)gTg>gCg	p.V220A		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V220M(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCCTGCAGCCACGATGCCAAT	0.562													G	123847740	A	G	123847740	3	3	13	1	0	0	0	0	1	0	0	0	10994	159	6	3	340	3	OR10S1	11	123847740	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	4635379	123847740	11158776	47	909											
APLP2	334	broad.mit.edu	37	chr11	129999095	129999095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttgcagtctgacccGccacgggtgagtcctgcccc	4	8	12	17	2	1	2	0	2	1	0	2	2	2	2	6	1	3	2	6	1	0	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr11:129999095G>A	uc010sby.2	+	9	1606	c.1449G>A	c.(1447-1449)ccG>ccA	p.P483P	APLP2_uc001qfp.3_Silent_p.P483P|APLP2_uc001qfq.3_Silent_p.P427P|APLP2_uc010sbz.2_Silent_p.P271P|APLP2_uc001qfr.3_Silent_p.P249P|APLP2_uc001qfs.3_Silent_p.P254P|APLP2_uc021qsg.1_Silent_p.P493P|APLP2_uc001qfv.3_Silent_p.P374P	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	483					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		AGTCTGACCCGCCACGGGTGA	0.572													A	129999095	G	A	129999095	2	1	13	1	0	0	0	0	0	0	0	1	782	1074	38	1		1	APLP2	11	129999095	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	6151355	129999095	5007421	48	910											
ATN1	1822	broad.mit.edu	37	chr12	7045674	7045674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccactctttccctccccCaacaagcctctctgtctcca	6	10	2	23	0	3	0	0	0	3	0	7	0	5	0	7	0	2	0	7	0	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:7045674C>T	uc001qrw.1	+	4	1481	c.1244C>T	c.(1243-1245)cCa>cTa	p.P415L	ATN1_uc001qrx.1_Missense_Mutation_p.P415L|ATN1_uc001qry.1_Missense_Mutation_p.P414L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	415					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TTCCCTCCCCCAACAAGCCTC	0.607													T	7045674	C	T	7045674	3	4	13	1	0	0	0	0	1	0	0	0	1116	594	21	2	1258	2	ATN1	12	7045674	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		7045674	126806221	49	911											
PDE3A	5139	broad.mit.edu	37	chr12	20790147	20790147	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggaaaatataggaagAaaatgtggccgtattcttag	15	12	11	3	1	1	1	0	0	1	1	1	3	1	3	1	3	0	1	1	3	10	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr12:20790147A>G	uc001reh.2	+	8	2155	c.2115A>G	c.(2113-2115)agA>agG	p.R705R	PDE3A_uc021qwa.1_Silent_p.R383R	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	705					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATATAGGAAGAAAATGTGGCC	0.343													G	20790147	A	G	20790147	2	3	13	1	0	0	0	0	0	0	0	1	11713	243	9	3		3	PDE3A	12	20790147	Silent	SNP	A	TCGA-06-0128-01A-01D-1490-08	13744473	20790147	113061748	50	912											
SACS	26278	broad.mit.edu	37	chr13	23912431	23912431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatgtgtggtttcactgTccacttctggtcctggattt	5	17	9	10	0	2	0	1	0	1	0	5	1	5	1	3	3	0	1	3	3	1	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:23912431T>C	uc001uon.2	-	9	6173	c.5584A>G	c.(5584-5586)Aca>Gca	p.T1862A	SACS_uc001uoo.2_Missense_Mutation_p.T1715A|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1862					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGTTTCACTGTCCACTTCTGG	0.453													C	23912431	T	C	23912431	3	2	13	1	0	0	0	0	1	0	0	0	13895	1667	58	3	8159	3	SACS	13	23912431	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		23912431	91257447	51	913											
PAN3	255967	broad.mit.edu	37	chr13	28851372	28851372	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatttattctttcatgtcAgcaagcagatctgatatcat	12	17	5	7	0	5	2	3	1	2	1	5	2	5	2	0	0	2	2	0	0	5	7			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr13:28851372A>G	uc001urz.3	+	15	2202	c.2050_splice	c.e15-2	p.Q684_splice	PAN3_uc001ury.3_Splice_Site_p.Q372_splice|PAN3_uc001urx.3_Splice_Site_p.Q484_splice	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	684	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CTTTCATGTCAGCAAGCAGAT	0.343													G	28851372	A	G	28851372	5	3	13	1	0	0	0	0	0	0	1	0	11491	202	7	3	2106	3	PAN3	13	28851372	Splice_Site	SNP	A	TCGA-06-0128-01A-01D-1490-08	4938941	28851372	86318506	52	914											
G2E3	55632	broad.mit.edu	37	chr14	31081472	31081472	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataaatgaatgctataactaCcttgagttaattggatgtct	14	15	7	5	0	1	2	0	2	1	0	1	3	1	3	1	1	3	2	1	1	7	7			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:31081472C>G	uc001wqk.2	+	12	1714	c.1560C>G	c.(1558-1560)taC>taG	p.Y520*	G2E3_uc010tpf.1_Nonsense_Mutation_p.Y474*|G2E3_uc001wql.1_Nonsense_Mutation_p.Y32*	NM_017769	NP_060239	Q7L622	G2E3_HUMAN	Homo sapiens G2/M-phase specific E3 ubiquitin protein ligase (G2E3), mRNA.	520	HECT.				apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						GCTATAACTACCTTGAGTTAA	0.318													G	31081472	C	G	31081472	4	3	13	1	0	0	0	0	0	1	0	0	6192	518	18	4	1606	4	G2E3	14	31081472	Nonsense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		31081472	76268068	53	915											
WDHD1	11169	broad.mit.edu	37	chr14	55451511	55451511	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagggtcaccatgcaaaatTtgttttttctttttccccag	9	16	7	9	0	2	1	1	0	1	1	3	1	3	1	3	1	1	2	3	1	2	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr14:55451511T>G	uc001xbm.2	-	14	1926	c.1836A>C	c.(1834-1836)caA>caC	p.Q612H	WDHD1_uc010aom.2_Missense_Mutation_p.Q129H|WDHD1_uc001xbn.2_Missense_Mutation_p.Q489H	NM_007086	NP_009017	O75717	WDHD1_HUMAN	Homo sapiens WD repeat and HMG-box DNA binding protein 1 (WDHD1), transcript variant 1, mRNA.	612				Q -> K (in Ref. 2; AAH43349/AAH00622).		cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CATGCAAAATTTGTTTTTTCT	0.378													G	55451511	T	G	55451511	3	3	13	1	0	0	0	0	1	0	0	0	17373	1838	64	5	1601	5	WDHD1	14	55451511	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08	24370039	55451511	51898029	54	916											
TCF12	6938	broad.mit.edu	37	chr15	57554312	57554313	+	Frame_Shift_Del	DEL	CT	CT	-																															gttggaactcatcgggaagaCtctgtcagtctcaatggcaa																										TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57554312_57554313delCT	uc002aec.3	+	15	1700_1701	c.1416_1417delCT	c.(1414-1419)gactctfs	p.D472fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.D524fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.D492fs|TCF12_uc002aea.3_Frame_Shift_Del_p.D496fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.D496fs|TCF12_uc002aed.3_Frame_Shift_Del_p.D472fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.D236fs|TCF12_uc002aee.3_Frame_Shift_Del_p.D302fs|TCF12_uc010bft.3_Frame_Shift_Del_p.D326fs|TCF12_uc010ugp.2_Frame_Shift_Del_p.D130fs|TCF12_uc010ugq.2_Frame_Shift_Del_p.D106fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.D85fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	472					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATCGGGAAGACTCTGTCAGTCT	0.356			T	TEC	extraskeletal myxoid chondrosarcoma								-	57554313	CT	-	57554312	7	5	13	1	0	1	0	1	0	0	0	0	15787	564	20	0	1623	0	TCF12	15	57554312	Frame_Shift_Del	DEL	CT	TCGA-06-0128-01A-01D-1490-08		57554312	44977080	55	917											
TCF12	6938	broad.mit.edu	37	chr15	57555309	57555309	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttgcctctttgttaGgtggcttgcaaagtcagtct	5	18	9	9	0	3	0	1	0	2	0	4	0	4	0	2	2	2	3	2	2	2	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:57555309G>C	uc002aec.3	+	17	1795	c.1511_splice	c.e17-1	p.G504_splice	TCF12_uc010ugm.1_Splice_Site_p.G556_splice|TCF12_uc010ugn.1_Splice_Site_p.G524_splice|TCF12_uc002aea.3_Splice_Site_p.G528_splice|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Splice_Site_p.G528_splice|TCF12_uc002aed.3_Splice_Site_p.G504_splice|TCF12_uc010ugo.2_Splice_Site_p.G268_splice|TCF12_uc002aee.3_Splice_Site_p.G334_splice|TCF12_uc010bft.3_Splice_Site_p.G358_splice|TCF12_uc010ugp.2_Splice_Site_p.G162_splice|TCF12_uc010ugq.2_Splice_Site_p.G138_splice|TCF12_uc010ugr.1_Splice_Site_p.G117_splice	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	504					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.?(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CTCTTTGTTAGGTGGCTTGCA	0.358			T	TEC	extraskeletal myxoid chondrosarcoma								C	57555309	G	C	57555309	5	2	13	1	0	0	0	0	0	0	1	0	15787	1014	35	4	1721	4	TCF12	15	57555309	Splice_Site	SNP	G	TCGA-06-0128-01A-01D-1490-08	997	57555309	44976083	56	918											
TARSL2	123283	broad.mit.edu	37	chr15	102241320	102241320	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaagcgtattataaatgAaggctcctctgggaaggaaa	14	10	11	6	1	1	1	0	1	1	0	2	3	2	3	1	3	1	3	1	3	8	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr15:102241320A>G	uc002bxm.3	-	9	1344	c.1289T>C	c.(1288-1290)tTc>tCc	p.F430S	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	430					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATTATAAATGAAGGCTCCTCT	0.303													G	102241320	A	G	102241320	3	3	13	1	0	0	0	0	1	0	0	0	15658	246	9	3	1159	3	TARSL2	15	102241320	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	44686011	102241320	290072	57	919											
HBZ	3050	broad.mit.edu	37	chr16	202974	202974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagatctccacgcaggcCgacaccatcggcaccgagac	11	3	10	17	4	1	2	0	0	1	2	3	4	1	2	5	2	0	2	5	2	1	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:202974C>T	uc002cft.1	+	0	121	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_005332	NP_005323	P02008	HBAZ_HUMAN	Homo sapiens hemoglobin, zeta (HBZ), mRNA.	22						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCACGCAGGCCGACACCATCG	0.627													T	202974	C	T	202974	2	4	13	1	0	0	0	0	0	0	0	1	7044	639	23	1		1	HBZ	16	202974	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08		202974	90151779	58	920											
SSTR5	6755	broad.mit.edu	37	chr16	1129388	1129388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcatgtcgctgccgCtcctggtgttcgcggacgtg	2	12	14	13	5	1	0	0	0	1	0	4	1	2	1	2	2	2	4	2	2	0	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1129388C>A	uc021taf.1	+	1	591	c.520C>A	c.(520-522)Ctc>Atc	p.L174I	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Missense_Mutation_p.L174I	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	174					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTCGCTGCCGCTCCTGGTGTT	0.721													A	1129388	C	A	1129388	3	1	13	1	0	0	0	0	1	0	0	0	15297	797	28	4	522	4	SSTR5	16	1129388	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	926414	1129388	89225365	59	921											
C16orf91	283951	broad.mit.edu	37	chr16	1470457	1470457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccatggtatggcccacCgaccagcggtgagggttggc	6	9	14	12	2	0	1	0	1	0	0	1	2	1	1	4	5	1	2	4	5	1	3			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:1470457C>T	uc010uvd.2	-	3	660	c.660G>A	c.(658-660)tcG>tcA	p.S220S	C16orf91_uc002clr.3_Silent_p.S63S	NM_001010878	NP_001010878	Q4G0I0	CSMT1_HUMAN	Homo sapiens chromosome 16 open reading frame 91 (C16orf91), mRNA.	63						integral to membrane				breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11						TATGGCCCACCGACCAGCGGT	0.652													T	1470457	C	T	1470457	2	4	13	1	0	0	0	0	0	0	0	1	1858	639	23	1		1	C16orf91	16	1470457	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08	341069	1470457	88884296	60	922											
PDILT	204474	broad.mit.edu	37	chr16	20370764	20370764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcttccagcttggatacGtacttggtcatgttctccag	6	14	10	11	1	3	0	1	0	2	0	5	1	4	1	2	3	3	4	2	3	2	6			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:20370764G>A	uc002dhc.1	-	11	1855	c.1632C>T	c.(1630-1632)taC>taT	p.Y544Y		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	544					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.Y544Y(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCTTGGATACGTACTTGGTCA	0.512													A	20370764	G	A	20370764	2	1	13	1	0	0	0	0	0	0	0	1	11750	1140	40	1		1	PDILT	16	20370764	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	18900307	20370764	69983989	61	923											
ARMC5	79798	broad.mit.edu	37	chr16	31470871	31470871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgaagccaaccctcaCggactcgctctcgttctgcc	6	8	10	17	4	3	0	1	0	2	0	5	2	3	1	3	2	4	3	3	2	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr16:31470871C>A	uc010vfn.2	+	2	435	c.311C>A	c.(310-312)aCg>aAg	p.T104K	ARMC5_uc010vfo.2_Missense_Mutation_p.T41K|ARMC5_uc002ecc.3_Missense_Mutation_p.T9K|ARMC5_uc002eca.4_Missense_Mutation_p.T9K|ARMC5_uc002ecb.2_Missense_Mutation_p.T9K|ARMC5_uc010vfp.2_Missense_Mutation_p.T9K	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	9							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CCAACCCTCACGGACTCGCTC	0.687													A	31470871	C	A	31470871	3	1	13	1	0	0	0	0	1	0	0	0	959	536	19	4	28	4	ARMC5	16	31470871	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	11100107	31470871	58883882	62	924											
SPNS3	201305	broad.mit.edu	37	chr17	4337372	4337372	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcacgcccacctcctGgagcctgcccccgtggaggg	5	6	11	19	2	1	0	1	0	0	0	3	2	3	2	7	3	2	0	7	3	0	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:4337372G>A	uc002fxt.3	+	0	154	c.110G>A	c.(109-111)tGg>tAg	p.W37*	SPNS3_uc002fxu.3_5'UTR	NM_182538	NP_872344	Q6ZMD2	SPNS3_HUMAN	Homo sapiens spinster homolog 3 (Drosophila) (SPNS3), mRNA.	37					lipid transport|transmembrane transport	integral to membrane		p.W37F(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CCCACCTCCTGGAGCCTGCCC	0.657													A	4337372	G	A	4337372	4	1	13	1	0	0	0	0	0	1	0	0	15172	1357	47	2	112	2	SPNS3	17	4337372	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08		4337372	76857838	63	925											
TP53	7157	broad.mit.edu	37	chr17	7576910	7576910	+	Frame_Shift_Del	DEL	G	G	-																															tttggctggggagaggagctGgtgttgttgggcagtgctag																										TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:7576910delG	uc002gim.2	-	8	1130	c.936delC	c.(934-936)accfs	p.T312fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.T312fs|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_Frame_Shift_Del_p.T180fs|TP53_uc010cnf.1_Frame_Shift_Del_p.T180fs|TP53_uc002gii.1_Frame_Shift_Del_p.T180fs|TP53_uc010cni.1_Frame_Shift_Del_p.T312fs|TP53_uc010cnh.1_Frame_Shift_Del_p.T312fs|TP53_uc002gij.2_Frame_Shift_Del_p.T312fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	312	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		T -> I (in sporadic cancers; somatic mutation).|T -> S (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.0?(8)|p.T312S(4)|p.T312T(4)|p.?(2)|p.S313fs*24(2)|p.N311H(1)|p.N311K(1)|p.T312fs*25(1)|p.T312fs*33(1)|p.L308fs*15(1)|p.N311fs*34(1)|p.L308fs*31(1)|p.T312A(1)|p.S313fs*32(1)|p.T312I(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)		GAGAGGAGCTGGTGTTGTTGG	0.488		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)			-	7576910	G	-	7576910	7	5	13	1	0	1	0	1	0	0	0	0	16482	1335	47	0	346	0	TP53	17	7576910	Frame_Shift_Del	DEL	G	TCGA-06-0128-01A-01D-1490-08	3239538	7576910	73618300	64	926											
KRT34	3885	broad.mit.edu	37	chr17	39538605	39538605	+	Frame_Shift_Del	DEL	G	G	-																															ttataccattaattgtgggtGggggcttggcatacagcata																										TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:39538605delG	uc002hwm.3	-	0	32	c.20delC	c.(19-21)ccafs	p.P7fs		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	7	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				AATTGTGGGTGGGGGCTTGGC	0.458													-	39538605	G	-	39538605	7	5	13	1	0	1	0	1	0	0	0	0	8529	1348	47	0	1318	0	KRT34	17	39538605	Frame_Shift_Del	DEL	G	TCGA-06-0128-01A-01D-1490-08	31961695	39538605	41656605	65	927											
EVPL	2125	broad.mit.edu	37	chr17	74004095	74004095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagactcctccccacaggGccccgaggtggtgacctcct	7	6	10	18	1	0	2	0	1	0	1	3	3	3	2	7	3	0	0	7	3	0	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr17:74004095G>A	uc010wss.1	-	21	5485	c.5257C>T	c.(5257-5259)Ccc>Tcc	p.P1753S	EVPL_uc002jqi.2_Missense_Mutation_p.P1731S|EVPL_uc010wst.1_Missense_Mutation_p.P1201S	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1731	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TCCCCACAGGGCCCCGAGGTG	0.642													A	74004095	G	A	74004095	3	1	13	1	0	0	0	0	1	0	0	0	5333	1203	42	2	914	2	EVPL	17	74004095	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	34465490	74004095	7191115	66	928											
WDR7	23335	broad.mit.edu	37	chr18	54694330	54694330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccctgtgcagcccgcGtcccccggctcccacaatgc	4	6	10	21	3	0	0	0	0	0	0	2	0	2	0	6	1	4	2	6	1	1	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:54694330G>A	uc002lgk.1	+	27	4576	c.4365G>A	c.(4363-4365)gcG>gcA	p.A1455A	WDR7_uc002lgl.1_Silent_p.A1422A	NM_015285	NP_056100	Q9Y4E6	WDR7_HUMAN	Homo sapiens WD repeat domain 7 (WDR7), transcript variant 1, mRNA.	1455										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TGCAGCCCGCGTCCCCCGGCT	0.617													A	54694330	G	A	54694330	2	1	13	1	0	0	0	0	0	0	0	1	17422	1132	40	1		1	WDR7	18	54694330	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08		54694330	23382918	67	929											
ZNF407	55628	broad.mit.edu	37	chr18	72345426	72345426	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaagggcatgctggcGtctgaggaactgtcacagtc	9	9	14	9	1	2	2	1	2	1	1	3	4	2	3	0	3	2	2	0	3	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr18:72345426G>C	uc002llw.2	+	0	2504	c.2451G>C	c.(2449-2451)gcG>gcC	p.A817A	ZNF407_uc010xfc.2_Silent_p.A817A|ZNF407_uc010dqu.2_Silent_p.A817A|ZNF407_uc002llu.2_Silent_p.A816A	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GCATGCTGGCGTCTGAGGAAC	0.438													C	72345426	G	C	72345426	2	2	13	1	0	0	0	0	0	0	0	1	17988	1132	40	4		4	ZNF407	18	72345426	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	17651096	72345426	5731822	68	930											
C3	718	broad.mit.edu	37	chr19	6707242	6707242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatggggttctcccgcatgCcgtcctcgcagcacttgcgc	4	10	11	16	4	2	0	1	0	1	0	5	0	3	0	3	2	3	4	3	2	0	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:6707242C>T	uc002mfm.3	-	16	2152	c.2090G>A	c.(2089-2091)gGc>gAc	p.G697D		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	697	Anaphylatoxin-like.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCCCGCATGCCGTCCTCGCA	0.667													T	6707242	C	T	6707242	3	4	13	1	0	0	0	0	1	0	0	0	2225	739	26	2	3001	2	C3	19	6707242	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08		6707242	52421741	69	931											
ZNF440	126070	broad.mit.edu	37	chr19	11943173	11943173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggactcacactggagagaaAccctatgagtgtaagcaatg	15	7	11	8	0	1	2	1	1	0	1	1	5	1	4	1	2	2	2	1	2	4	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:11943173A>C	uc002msp.1	+	3	1338	c.1182A>C	c.(1180-1182)aaA>aaC	p.K394N	ZNF440_uc021upk.1_5'Flank	NM_152357	NP_689570	Q8IYI8	ZN440_HUMAN	Homo sapiens zinc finger protein 440 (ZNF440), mRNA.	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(9)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGAGAAACCCTATGAGT	0.463													C	11943173	A	C	11943173	3	2	13	1	0	0	0	0	1	0	0	0	18014	40	2	5	1196	5	ZNF440	19	11943173	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	5235931	11943173	47185810	70	932											
BCAM	4059	broad.mit.edu	37	chr19	45315773	45315773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcccccaacaaagggAcactgtctgtgatggaggac	11	7	12	11	0	2	1	0	1	2	0	3	4	2	4	2	4	1	0	2	4	2	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:45315773A>G	uc002ozu.3	+	3	516	c.472A>G	c.(472-474)Aca>Gca	p.T158A	BCAM_uc002ozt.1_Missense_Mutation_p.T158A	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	158	Ig-like V-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAACAAAGGGACACTGTCTGT	0.647													G	45315773	A	G	45315773	3	3	13	1	0	0	0	0	1	0	0	0	1349	275	10	3	486	3	BCAM	19	45315773	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	33372600	45315773	13813210	71	933											
ZNF649	65251	broad.mit.edu	37	chr19	52394411	52394411	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgcccttctgaatgaaGccttttccacattcactgca	10	13	6	12	0	2	3	1	2	1	1	3	3	3	3	3	0	3	1	3	0	2	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394411G>C	uc002pxy.3	-	4	1304	c.978C>G	c.(976-978)ggC>ggG	p.G326G	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTGAATGAAGCCTTTTCCAC	0.458													C	52394411	G	C	52394411	2	2	13	1	0	0	0	0	0	0	0	1	18165	958	34	4		4	ZNF649	19	52394411	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08	7078638	52394411	6734572	72	934			1	3		2	2	13	N	T_G	3.217342e-05
ZNF649	65251	broad.mit.edu	37	chr19	52394423	52394423	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatgaagccttttccacaTtcactgcatgtatgaggctt	10	14	8	9	0	1	3	1	3	0	0	2	3	2	3	2	1	2	3	2	1	3	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:52394423T>C	uc002pxy.3	-	4	1292	c.966A>G	c.(964-966)gaA>gaG	p.E322E	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CTTTTCCACATTCACTGCATG	0.458													C	52394423	T	C	52394423	2	2	13	1	0	0	0	0	0	0	0	1	18165	1490	52	3		3	ZNF649	19	52394423	Silent	SNP	T	TCGA-06-0128-01A-01D-1490-08	12	52394423	6734560	73	935			1	3		2	2	13	N	T_G	3.217342e-05
KIR2DL1	3802	broad.mit.edu	37	chr19	55284980	55284980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaacttctccatcagtcGcatgacgcaagacctggcag	10	7	10	14	2	2	2	1	1	1	1	4	2	2	2	3	2	1	3	3	2	2	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:55284980G>A	uc010erz.1	+	2	304	c.266G>A	c.(265-267)cGc>cAc	p.R89H	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.R89H	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	89	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity	p.R89H(2)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCCATCAGTCGCATGACGCAA	0.537													A	55284980	G	A	55284980	3	1	13	1	0	0	0	0	1	0	0	0	8374	1087	38	1	276	1	KIR2DL1	19	55284980	Missense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	2890557	55284980	3844003	74	936											
ZNF586	54807	broad.mit.edu	37	chr19	58290731	58290731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagagttcacacaggagAaaggccttatgaatgcgttg	12	10	12	7	1	1	3	1	2	0	2	1	5	1	3	1	2	1	2	1	2	3	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr19:58290731A>G	uc002qqd.3	+	2	967	c.776A>G	c.(775-777)gAa>gGa	p.E259G	ZNF587_uc002qqb.2_Intron|ZNF586_uc010euh.3_Missense_Mutation_p.E216G|ZNF586_uc002qqe.3_3'UTR|ZNF586_uc002qqf.2_Intron	NM_017652	NP_001191743	Q9NXT0	ZN586_HUMAN	Homo sapiens zinc finger protein 586 (ZNF586), transcript variant 1, mRNA.	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACACAGGAGAAAGGCCTTAT	0.443													G	58290731	A	G	58290731	3	3	13	1	0	0	0	0	1	0	0	0	18120	246	9	3	786	3	ZNF586	19	58290731	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	3005751	58290731	838252	75	937											
DNMT3B	1789	broad.mit.edu	37	chr20	31368258	31368258	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctggaggctatccgcacCccggagatcagaggtggctg	8	7	14	12	2	1	2	1	0	0	2	3	4	3	3	4	5	0	3	4	5	1	1			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:31368258C>T	uc002wyc.3	+	1	450	c.129C>T	c.(127-129)acC>acT	p.T43T	DNMT3B_uc010ztx.1_Non-coding_Transcript|DNMT3B_uc010zty.1_Non-coding_Transcript|DNMT3B_uc002wyd.3_Silent_p.T43T|DNMT3B_uc002wye.3_Silent_p.T43T|DNMT3B_uc010ztz.2_Silent_p.T43T|DNMT3B_uc010zua.2_Silent_p.T43T|DNMT3B_uc010gee.3_Non-coding_Transcript|DNMT3B_uc010gef.3_Non-coding_Transcript|DNMT3B_uc002wyf.3_Silent_p.T55T	NM_006892	NP_008823	Q9UBC3	DNM3B_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3 beta (DNMT3B), transcript variant 1, mRNA.	43	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTATCCGCACCCCGGAGATCA	0.652													T	31368258	C	T	31368258	2	4	13	1	0	0	0	0	0	0	0	1	4716	610	22	2		2	DNMT3B	20	31368258	Silent	SNP	C	TCGA-06-0128-01A-01D-1490-08		31368258	31657262	76	938											
SULF2	55959	broad.mit.edu	37	chr20	46307466	46307466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgaggatggatttccCgtccatatccgcaggtatgt	8	12	11	10	2	0	1	0	1	0	0	3	3	3	3	3	3	1	3	3	3	2	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr20:46307466C>T	uc002xto.3	-	7	1477	c.1147G>A	c.(1147-1149)Ggg>Agg	p.G383R	SULF2_uc002xtr.3_Missense_Mutation_p.G383R|SULF2_uc002xtq.3_Missense_Mutation_p.G383R	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	383					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						ATGGATTTCCCGTCCATATCC	0.617													T	46307466	C	T	46307466	3	4	13	1	0	0	0	0	1	0	0	0	15467	652	23	1	1521	1	SULF2	20	46307466	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	14939208	46307466	16718054	77	939											
CHODL	140578	broad.mit.edu	37	chr21	19638284	19638284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcagtaaaggaagaacaAaaactagtccaaaccagtct	18	9	6	8	0	2	1	1	0	1	1	3	2	3	2	2	1	3	1	2	1	8	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr21:19638284A>G	uc002ykv.3	+	5	1142	c.751A>G	c.(751-753)Aaa>Gaa	p.K251E	CHODL_uc002ykr.3_Missense_Mutation_p.K210E|CHODL_uc002yks.3_Missense_Mutation_p.K210E|CHODL_uc021whr.1_Missense_Mutation_p.K210E|CHODL_uc002ykt.3_Silent_p.Q175Q|CHODL_uc002yku.3_Silent_p.Q175Q|CHODL_uc021whs.1_Missense_Mutation_p.K232E	NM_024944	NP_001191105	Q9H9P2	CHODL_HUMAN	Homo sapiens chondrolectin (CHODL), transcript variant 1, mRNA.	251					muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		AGGAAGAACAAAAACTAGTCC	0.343													G	19638284	A	G	19638284	3	3	13	1	0	0	0	0	1	0	0	0	3394	15	1	3	773	3	CHODL	21	19638284	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08		19638284	28491611	78	940											
POTEH	23784	broad.mit.edu	37	chr22	16287511	16287511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtgtcttcatagcagaGtcgtcgtggtctccagaagt	8	12	12	9	2	3	3	1	1	2	2	6	3	3	3	1	1	1	1	1	1	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:16287511G>A	uc010gqp.2	-	0	427	c.375C>T	c.(373-375)gaC>gaT	p.D125D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_Intron	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	125										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCATAGCAGAGTCGTCGTGGT	0.612													A	16287511	G	A	16287511	2	1	13	1	0	0	0	0	0	0	0	1	12344	1020	36	2		2	POTEH	22	16287511	Silent	SNP	G	TCGA-06-0128-01A-01D-1490-08		16287511	35017055	79	941											
MYO18B	84700	broad.mit.edu	37	chr22	26291213	26291213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcgaggagaggctggactCggagctgacagccaggaaag	12	4	17	8	2	0	2	0	1	0	1	1	7	0	5	1	5	3	2	1	5	1	0			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:26291213C>T	uc003abz.1	+	27	4884	c.4634C>T	c.(4633-4635)tCg>tTg	p.S1545L	MYO18B_uc003aca.1_Missense_Mutation_p.S1426L|MYO18B_uc010guy.1_Missense_Mutation_p.S1427L|MYO18B_uc010guz.1_Missense_Mutation_p.S1425L|MYO18B_uc011aka.1_Missense_Mutation_p.S699L|MYO18B_uc011akb.1_Missense_Mutation_p.S1058L	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1545	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						AGGCTGGACTCGGAGCTGACA	0.552													T	26291213	C	T	26291213	3	4	13	1	0	0	0	0	1	0	0	0	10142	893	31	1	4740	1	MYO18B	22	26291213	Missense_Mutation	SNP	C	TCGA-06-0128-01A-01D-1490-08	10003702	26291213	25013353	80	942											
SF3A1	10291	broad.mit.edu	37	chr22	30738811	30738811	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatccaaaacttctcGggggttttcagcctctttct	7	15	7	12	1	4	1	1	1	3	0	6	1	5	1	3	2	3	1	3	2	3	5			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:30738811G>A	uc003ahl.3	-	4	841	c.709C>T	c.(709-711)Cga>Tga	p.R237*	SF3A1_uc021wnt.1_Nonsense_Mutation_p.R172*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	237					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						AAAACTTCTCGGGGGTTTTCA	0.408													A	30738811	G	A	30738811	4	1	13	1	0	0	0	0	0	1	0	0	14239	1124	39	1	1720	1	SF3A1	22	30738811	Nonsense_Mutation	SNP	G	TCGA-06-0128-01A-01D-1490-08	4447598	30738811	20565755	81	943											
GGA1	26088	broad.mit.edu	37	chr22	38016850	38016850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaccccaagcttccagAtgacactacctttccccttc	8	10	5	18	1	0	2	0	1	0	1	4	3	3	2	7	0	2	1	7	0	2	4			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chr22:38016850A>G	uc003atc.3	+	5	845	c.458A>G	c.(457-459)gAt>gGt	p.D153G	GGA1_uc003ate.3_Missense_Mutation_p.D153G|GGA1_uc003atd.3_Missense_Mutation_p.D153G|GGA1_uc003atf.3_Missense_Mutation_p.D80G	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	153	Interaction with ARF3.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					AAGCTTCCAGATGACACTACC	0.522													G	38016850	A	G	38016850	3	3	13	1	0	0	0	0	1	0	0	0	6408	333	12	3	546	3	GGA1	22	38016850	Missense_Mutation	SNP	A	TCGA-06-0128-01A-01D-1490-08	7278039	38016850	13287716	82	944											
FTSJ1	24140	broad.mit.edu	37	chrX	48337070	48337070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctccactaccaggtgtggTacagatccagggggacatca	10	7	13	11	0	1	1	1	0	0	1	3	2	3	2	3	5	2	2	3	5	2	2			TCGA-06-0128-01A-01D-1490-08	TCGA-06-0128-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5688535-bda4-4831-aaba-e0c19101d7b0	8e63435b-e780-4462-bb14-fccc528fe9f5	g.chrX:48337070T>C	uc004djo.1	+	3	580	c.257T>C	c.(256-258)gTa>gCa	p.V86A	FTSJ1_uc004djn.1_Missense_Mutation_p.V86A|FTSJ1_uc011mlw.1_Intron	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	86					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCAGGTGTGGTACAGATCCAG	0.592													C	48337070	T	C	48337070	3	2	13	1	0	0	0	0	1	0	0	0	6139	1638	57	3	267	3	FTSJ1	23	48337070	Missense_Mutation	SNP	T	TCGA-06-0128-01A-01D-1490-08		48337070	106933490	83	945											
AADACL4	343066	broad.mit.edu	37	chr1	12726313	12726313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattgacctctcctggcGtgacgccatcttgaacggca	7	9	11	14	3	2	3	0	3	2	0	3	3	2	3	4	3	1	1	4	3	1	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:12726313G>A	uc001auf.3	+	3	791	c.791G>A	c.(790-792)cGt>cAt	p.R264H		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	264						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CTCTCCTGGCGTGACGCCATC	0.498													A	12726313	G	A	12726313	3	1	14	1	0	0	0	0	1	0	0	0	13	1145	40	1	805	1	AADACL4	1	12726313	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		12726313	236524308	1	946											
MCL1	4170	broad.mit.edu	37	chr1	150550855	150550856	+	Frame_Shift_Del	DEL	GA	GA	-																															acaaaggcaccaaaagaaatGagagtcacaatcctgcccca																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:150550855_150550856delGA	uc001euz.3	-	1	1008_1009	c.800_801delTC	c.(799-801)ctcfs	p.L267fs	MCL1_uc010pch.2_Frame_Shift_Del_p.L157fs|MCL1_uc021oyf.1_Frame_Shift_Del_p.L114fs|MCL1_uc001eva.3_Intron	NM_021960	NP_068779	Q07820	MCL1_HUMAN	Homo sapiens myeloid cell leukemia sequence 1 (BCL2-related) (MCL1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	267					anti-apoptosis|apoptosis|cell fate determination|cellular homeostasis|multicellular organismal development|response to cytokine stimulus	integral to membrane|mitochondrial outer membrane|nucleoplasm	BH3 domain binding|protein binding|protein channel activity|protein heterodimerization activity			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)	8	all_cancers(9;1.69e-53)|all_epithelial(9;1.95e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CAAAAGAAATGAGAGTCACAAT	0.436													-	150550856	GA	-	150550855	7	5	14	1	0	1	0	1	0	0	0	0	9459	1277	45	0	270	0	MCL1	1	150550855	Frame_Shift_Del	DEL	GA	TCGA-06-0129-01A-01D-1490-08	137824542	150550855	98699766	2	947											
MDM4	4194	broad.mit.edu	37	chr1	204507404	204507404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgatatccccacactgcctaCctcagagcataaatgcatac	13	8	5	15	1	1	1	1	0	0	1	2	2	2	1	4	0	5	2	4	0	5	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:204507404C>G	uc001hba.3	+	6	645	c.479C>G	c.(478-480)aCc>aGc	p.T160S	MDM4_uc001hbd.2_Non-coding_Transcript|MDM4_uc010pqw.2_Non-coding_Transcript|MDM4_uc010pqx.2_Missense_Mutation_p.T33S|MDM4_uc001hay.2_Missense_Mutation_p.T160S|MDM4_uc021phx.1_Intron|MDM4_uc001hbb.3_Missense_Mutation_p.T33S|MDM4_uc010pqy.2_Intron|MDM4_uc001hbc.3_Non-coding_Transcript|MDM4_uc009xbe.1_Non-coding_Transcript	NM_002393	NP_002384	O15151	MDM4_HUMAN	Homo sapiens Mdm4 p53 binding protein homolog (mouse) (MDM4), transcript variant 1, mRNA.	160					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding	p.T160S(2)|p.T160T(1)		central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			ACACTGCCTACCTCAGAGCAT	0.393			A		"GBM, bladder, retinoblastoma"								G	204507404	C	G	204507404	3	3	14	1	0	0	0	0	1	0	0	0	9489	507	18	4	501	4	MDM4	1	204507404	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	53956549	204507404	44743217	3	948											
CR1L	1379	broad.mit.edu	37	chr1	207868047	207868047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggccctcccatgtgaaGtgccaggccctgaacaaatg	12	6	11	12	0	0	2	0	2	0	0	1	2	1	2	4	2	2	0	4	2	4	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:207868047G>T	uc001hga.4	+	4	934	c.813G>T	c.(811-813)aaG>aaT	p.K271N	CR1L_uc001hfz.2_Non-coding_Transcript|CR1L_uc001hgb.1_Non-coding_Transcript	NM_175710	NP_783641	Q2VPA4	CR1L_HUMAN	Homo sapiens complement component (3b/4b) receptor 1-like (CR1L), mRNA.	271	Sushi 4.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCATGTGAAGTGCCAGGCCC	0.507													T	207868047	G	T	207868047	3	4	14	1	0	0	0	0	1	0	0	0	3872	1020	36	4	831	4	CR1L	1	207868047	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	3360643	207868047	41382574	4	949											
USH2A	7399	broad.mit.edu	37	chr1	216052218	216052218	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtacggtggggtgagTggtaacataggtaggtaaac	11	9	17	4	1	0	2	0	2	0	0	0	2	0	2	0	7	3	4	0	7	6	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr1:216052218T>G	uc001hku.1	-	41	8833	c.8446A>C	c.(8446-8448)Act>Cct	p.T2816P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2816					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)		GTGGGGTGAGTGGTAACATAG	0.458										HNSCC(13;0.011)			G	216052218	T	G	216052218	3	3	14	1	0	0	0	0	1	0	0	0	17138	1696	59	5	7286	5	USH2A	1	216052218	Missense_Mutation	SNP	T	TCGA-06-0129-01A-01D-1490-08	8184171	216052218	33198403	5	950											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9547680	9547681	+	Frame_Shift_Del	DEL	AC	AC	-																															gcccccagaccgtcatcgtaAcacaccatccggattattaa																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:9547680_9547681delAC	uc002qzj.3	-	5	605_606	c.428_429delGT	c.(427-429)tgtfs	p.C143fs	ITGB1BP1_uc002qzm.3_Non-coding_Transcript|ITGB1BP1_uc002qzk.3_Intron|ITGB1BP1_uc002qzl.3_Intron|ITGB1BP1_uc010yiy.2_Frame_Shift_Del_p.C99fs|ITGB1BP1_uc002qzn.1_Frame_Shift_Del_p.C143fs	NM_004763	NP_004754	O14713	ITBP1_HUMAN	Homo sapiens integrin beta 1 binding protein 1 (ITGB1BP1), transcript variant 1, mRNA.	143	PID.				cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		CGTCATCGTAACACACCATCCG	0.48													-	9547681	AC	-	9547680	7	5	14	1	0	1	0	1	0	0	0	0	7949	41	2	0	181	0	ITGB1BP1	2	9547680	Frame_Shift_Del	DEL	AC	TCGA-06-0129-01A-01D-1490-08		9547680	233651693	6	951											
OLA1	29789	broad.mit.edu	37	chr2	174945887	174945887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatgaatcttaccctgatgGtccatgcacgcacttcatct	9	13	7	12	1	3	2	1	2	2	0	4	2	4	2	2	1	2	3	2	1	3	3			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:174945887G>C	uc002uih.3	-	8	1145	c.959C>G	c.(958-960)aCc>aGc	p.T320S	OLA1_uc002uii.3_Missense_Mutation_p.T162S|OLA1_uc010fqq.3_Missense_Mutation_p.T299S|OLA1_uc010fqr.3_Intron	NM_013341	NP_001011708	Q9NTK5	OLA1_HUMAN	Homo sapiens Obg-like ATPase 1 (OLA1), transcript variant 1, mRNA.	320					ATP catabolic process	cytoplasm	ATP binding|GTP binding|hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						TACCCTGATGGTCCATGCACG	0.418													C	174945887	G	C	174945887	3	2	14	1	0	0	0	0	1	0	0	0	10926	1261	44	4	243	4	OLA1	2	174945887	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	165398207	174945887	68253486	7	952											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	14	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	34167225	209113112	34086261	8	953											
PROS1	5627	broad.mit.edu	37	chr3	93611922	93611922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattctgcgtacagtatcAcgccttctgaatcatatgtc	10	14	7	10	2	4	2	2	1	2	1	5	2	4	2	1	0	2	2	1	0	5	6			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:93611922A>G	uc003drb.4	-	9	1351	c.1010T>C	c.(1009-1011)gTg>gCg	p.V337A	PROS1_uc010hoo.3_Missense_Mutation_p.V206A|PROS1_uc003dqz.4_Missense_Mutation_p.V206A	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	337	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.V337M(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	GTACAGTATCACGCCTTCTGA	0.398													G	93611922	A	G	93611922	3	3	14	1	0	0	0	0	1	0	0	0	12644	159	6	3	1044	3	PROS1	3	93611922	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08		93611922	104410508	9	954											
C3orf22	152065	broad.mit.edu	37	chr3	126268815	126268815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttgtctggggaagcggcGactcagcaacttgagttccc	8	9	14	10	2	2	1	1	1	1	0	3	4	3	2	1	3	3	3	1	3	2	3			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:126268815G>A	uc003ejb.3	-	3	651	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_152533	NP_689746	Q8N5N4	CC022_HUMAN	Homo sapiens chromosome 3 open reading frame 22 (C3orf22), mRNA.	108										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		GGGAAGCGGCGACTCAGCAAC	0.632													A	126268815	G	A	126268815	3	1	14	1	0	0	0	0	1	0	0	0	2236	1058	37	1	107	1	C3orf22	3	126268815	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	32656893	126268815	71753615	10	955											
CHST2	9435	broad.mit.edu	37	chr3	142841108	142841108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggccgccaatgcctggCggaccgccctcaccttccag	6	5	11	19	4	1	0	1	0	0	0	2	1	2	1	7	3	1	1	7	3	1	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr3:142841108C>T	uc003evm.3	+	1	2389	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W	CHST2_uc021xex.1_Missense_Mutation_p.R484W	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	484					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						CAATGCCTGGCGGACCGCCCT	0.607													T	142841108	C	T	142841108	3	4	14	1	0	0	0	0	1	0	0	0	3434	759	27	1	1452	1	CHST2	3	142841108	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	16572293	142841108	55181322	11	956											
FAM193A	8603	broad.mit.edu	37	chr4	2661629	2661629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacatccacattcaccagctCccacttcaagtggatcctgc	10	9	6	16	0	2	0	2	0	0	0	5	2	5	1	4	1	2	1	4	1	1	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:2661629C>T	uc010ick.3	+	8	1321	c.1320C>T	c.(1318-1320)ctC>ctT	p.L440L	FAM193A_uc003gfd.3_Silent_p.L240L|FAM193A_uc011bvm.2_Silent_p.L264L|FAM193A_uc011bvn.2_Silent_p.L240L|FAM193A_uc010icl.3_Silent_p.L240L|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Silent_p.L94L	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	240										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						TTCACCAGCTCCCACTTCAAG	0.562													T	2661629	C	T	2661629	2	4	14	1	0	0	0	0	0	0	0	1	5571	842	30	2		2	FAM193A	4	2661629	Silent	SNP	C	TCGA-06-0129-01A-01D-1490-08		2661629	188492647	12	957											
ZNF518B	85460	broad.mit.edu	37	chr4	10446518	10446518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaccttttaaggcaaCggaaggaaaagcagttctat	16	9	10	6	1	1	2	0	1	1	1	1	4	1	4	1	3	2	3	1	3	7	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:10446518C>T	uc003gmn.3	-	2	1922	c.1435G>A	c.(1435-1437)Gtt>Att	p.V479I	ZNF518B_uc021xme.1_Missense_Mutation_p.V479I	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	479					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTAAGGCAACGGAAGGAAAA	0.348													T	10446518	C	T	10446518	3	4	14	1	0	0	0	0	1	0	0	0	18064	536	19	1	1793	1	ZNF518B	4	10446518	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	7784889	10446518	180707758	13	958											
EXOC1	55763	broad.mit.edu	37	chr4	56750010	56750010	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attacatggattatttatccCgactatatgaaagagaaatc	16	13	6	6	1	0	2	0	1	0	1	2	5	1	3	1	1	1	0	1	1	7	6			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr4:56750010C>T	uc003hbe.1	+	9	1404	c.1246C>T	c.(1246-1248)Cga>Tga	p.R416*	EXOC1_uc003hbf.1_Nonsense_Mutation_p.R416*|EXOC1_uc003hbg.1_Nonsense_Mutation_p.R416*|U6_uc021xoo.1_5'Flank	NM_018261	NP_060731	Q9NV70	EXOC1_HUMAN	Homo sapiens exocyst complex component 1 (EXOC1), transcript variant 1, mRNA.	416					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					TTATTTATCCCGACTATATGA	0.299													T	56750010	C	T	56750010	4	4	14	1	0	0	0	0	0	1	0	0	5342	644	23	1	1280	1	EXOC1	4	56750010	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	46303492	56750010	134404266	14	959											
PIK3R1	5295	broad.mit.edu	37	chr5	67591126	67591127	+	Frame_Shift_Del	DEL	GA	GA	-																															aaaccagaccttatccagctGagaaagacgagagaccaata																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:67591126_67591127delGA	uc003jva.3	+	12	2299_2300	c.1719_1720delGA	c.(1717-1722)ctgagafs	p.L573fs	PIK3R1_uc003jvc.3_Frame_Shift_Del_p.L273fs|PIK3R1_uc003jvd.3_Frame_Shift_Del_p.L303fs|PIK3R1_uc003jve.3_Frame_Shift_Del_p.L252fs|PIK3R1_uc021xzn.1_Frame_Shift_Del_p.L210fs|PIK3R1_uc011crb.2_Frame_Shift_Del_p.L243fs	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	573					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R574_T576del(4)|p.L570_D578del(2)|p.L573P(2)|p.R574T(2)|p.R574fs*27(1)|p.0?(1)|p.?(1)|p.R574I(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTATCCAGCTGAGAAAGACGAG	0.381			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591127	GA	-	67591126	7	5	14	1	0	1	0	1	0	0	0	0	11995	1277	45	0	1895	0	PIK3R1	5	67591126	Frame_Shift_Del	DEL	GA	TCGA-06-0129-01A-01D-1490-08		67591126	113324134	15	960											
SLC12A2	6558	broad.mit.edu	37	chr5	127420118	127420118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctgaagacagcctgtcaGatgctgccggggtcggagtc	7	7	16	11	3	1	3	1	1	0	2	3	4	1	4	2	4	3	2	2	4	1	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:127420118G>C	uc003kus.3	+	0	636	c.472G>C	c.(472-474)Gat>Cat	p.D158H	FLJ33630_uc003kun.3_5'Flank|FLJ33630_uc003kuo.3_5'Flank|FLJ33630_uc003kuq.1_5'Flank|FLJ33630_uc003kur.3_5'Flank|SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.D158H	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	158					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGCCTGTCAGATGCTGCCGG	0.692													C	127420118	G	C	127420118	3	2	14	1	0	0	0	0	1	0	0	0	14477	942	33	4	474	4	SLC12A2	5	127420118	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	59828992	127420118	53495142	16	961											
MYOZ3	91977	broad.mit.edu	37	chr5	150050115	150050115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggagctgtcactacGcaacaacagagggtccctcc	11	6	12	12	1	1	1	1	0	0	1	3	4	3	3	2	3	4	2	2	3	3	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr5:150050115G>A	uc003lss.2	+	2	718	c.131G>A	c.(130-132)cGc>cAc	p.R44H	MYOZ3_uc003lsr.2_Missense_Mutation_p.R44H	NM_001122853	NP_588612	Q8TDC0	MYOZ3_HUMAN	Homo sapiens myozenin 3 (MYOZ3), transcript variant 1, mRNA.	44						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTCACTACGCAACAACAGA	0.612													A	150050115	G	A	150050115	3	1	14	1	0	0	0	0	1	0	0	0	10173	1087	38	1	137	1	MYOZ3	5	150050115	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	22629997	150050115	30865145	17	962											
PSMB8	5696	broad.mit.edu	37	chr6	32809494	32809494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtcccatgttcatccaCgtagtagagtccaggaccct	9	9	9	14	2	1	1	1	0	0	1	4	3	4	2	5	1	0	3	5	1	2	3	rs78945358	by1000genomes	TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:32809494C>T	uc003oce.3	-	4	599	c.556G>A	c.(556-558)Gtg>Atg	p.V186M	TAP2_uc011dqf.1_5'Flank|TAP2_uc003ocb.1_5'Flank|TAP2_uc003ocd.3_5'Flank|PSMB8_uc003ocf.3_Missense_Mutation_p.V182M|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TGTTCATCCACGTAGTAGAGT	0.463													T	32809494	C	T	32809494	3	4	14	1	0	0	0	0	1	0	0	0	12768	536	19	1	282	1	PSMB8	6	32809494	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		32809494	138305573	18	963											
CCND3	896	broad.mit.edu	37	chr6	41903737	41903738	+	Frame_Shift_Ins	INS	-	-	G																															tggctgggcccttggctgctINSggagccccggggggctttgg																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:41903737_41903738insG	uc003orn.3	-	4	984_985	c.819_820insC	c.(817-822)tccagcfs	p.S273fs	CCND3_uc003orp.3_Frame_Shift_Ins_p.S192fs|CCND3_uc011duk.2_Frame_Shift_Ins_p.S77fs|CCND3_uc003orm.3_Frame_Shift_Ins_p.S223fs|CCND3_uc003oro.3_Frame_Shift_Ins_p.S201fs	NM_001760	NP_001129489	P30281	CCND3_HUMAN	Homo sapiens cyclin D3 (CCND3), transcript variant 2, mRNA.	273					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(13)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	20	Colorectal(47;0.121)		Epithelial(12;0.000178)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTTGGCTGCTGGAGCCCCGGG	0.649			T	IGH@	MM								G	41903738	-	G	41903737	7	5	14	1	0	1	1	0	0	0	0	0	2948	1580	55	0	62	0	CCND3	6	41903737	Frame_Shift_Ins	INS	-	TCGA-06-0129-01A-01D-1490-08	9094243	41903737	129211330	19	964											
FABP7	2173	broad.mit.edu	37	chr6	123101455	123101455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgtgggctttgccactagGcaggtgggaaatgtgaccaa	9	8	16	8	1	0	1	0	1	0	0	0	2	0	2	2	5	1	2	2	5	3	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr6:123101455G>A	uc003pzf.3	+	1	387	c.93G>A	c.(91-93)agG>agA	p.R31R	FABP7_uc003pzd.3_Silent_p.R31R|FABP7_uc003pze.1_Silent_p.R31R	NM_001446	NP_001437	O15540	FABP7_HUMAN	Homo sapiens fatty acid binding protein 7, brain (FABP7), mRNA.	31					negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	TTGCCACTAGGCAGGTGGGAA	0.448													A	123101455	G	A	123101455	2	1	14	1	0	0	0	0	0	0	0	1	5407	1194	42	2		2	FABP7	6	123101455	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	81197718	123101455	48013612	20	965											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657586	95657586	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgggacaatcgcagtcatCgaaggactccagtgcagcgg	10	7	13	11	3	2	0	1	0	1	0	5	3	3	2	1	3	2	2	1	3	2	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr7:95657586C>T	uc003uoc.4	+	10	1397	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	DYNC1I1_uc003uod.4_Nonsense_Mutation_p.R357*|DYNC1I1_uc003uob.3_Nonsense_Mutation_p.R337*|DYNC1I1_uc003uoe.4_Nonsense_Mutation_p.R354*|DYNC1I1_uc010lfl.3_Nonsense_Mutation_p.R363*	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	374					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.H373L(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCGCAGTCATCGAAGGACTCC	0.547													T	95657586	C	T	95657586	4	4	14	1	0	0	0	0	0	1	0	0	4881	876	31	1	1158	1	DYNC1I1	7	95657586	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		95657586	63481077	21	966											
JPH1	56704	broad.mit.edu	37	chr8	75156952	75156952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaggaagactggctggAtccatcgccgtcctccacgt	7	9	12	13	3	0	2	0	1	0	1	4	4	3	4	4	3	1	2	4	3	1	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr8:75156952A>G	uc003yae.3	-	3	1757	c.1717T>C	c.(1717-1719)Tcc>Ccc	p.S573P	JPH1_uc003yaf.3_Missense_Mutation_p.S573P|JPH1_uc003yag.1_Missense_Mutation_p.S437P	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	573					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GACTGGCTGGATCCATCGCCG	0.552													G	75156952	A	G	75156952	3	3	14	1	0	0	0	0	1	0	0	0	8018	333	12	3	276	3	JPH1	8	75156952	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08		75156952	71207070	22	967											
CRTAC1	55118	broad.mit.edu	37	chr10	99696002	99696002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcgcaggctgtgacccCgatggcgttcccctgccggt	4	9	14	14	4	0	1	0	1	0	0	2	3	1	1	5	3	1	3	5	3	0	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:99696002C>T	uc001kou.2	-	2	702	c.346G>A	c.(346-348)Ggg>Agg	p.G116R	CRTAC1_uc001kov.3_Missense_Mutation_p.G116R|CRTAC1_uc001kot.2_5'UTR	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	116						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GCTGTGACCCCGATGGCGTTC	0.632													T	99696002	C	T	99696002	3	4	14	1	0	0	0	0	1	0	0	0	3927	652	23	1	1691	1	CRTAC1	10	99696002	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		99696002	35838745	23	968											
C10orf46	143384	broad.mit.edu	37	chr10	120513921	120513923	+	In_Frame_Del	DEL	GGA	GGA	-																															gactcacagaacttggaggtGgaggtgttgatgttgatggt																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr10:120513921_120513923delGGA	uc001lds.1	-	0	836_838	c.352_354delTCC	c.(352-354)tccdel	p.S118del	C10orf46_uc010qst.1_Non-coding_Transcript	NM_153810	NP_722517	Q86Y37	CJ046_HUMAN	Homo sapiens chromosome 10 open reading frame 46 (C10orf46), mRNA.	118					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0131)		ACTTGGAGGTGGAGGTGTTGATG	0.621													-	120513923	GGA	-	120513921	7	5	14	1	0	1	0	1	0	0	0	0	1615	1335	47	0	791	0	C10orf46	10	120513921	In_Frame_Del	DEL	GGA	TCGA-06-0129-01A-01D-1490-08	20817919	120513921	15020826	24	969											
LRRC56	115399	broad.mit.edu	37	chr11	544759	544759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccaactgaagctgaacgGcagccacctgggctccctga	10	5	12	14	1	0	3	0	3	0	0	1	4	1	4	4	3	4	3	4	3	3	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:544759G>A	uc010qvz.2	+	5	810	c.305G>A	c.(304-306)gGc>gAc	p.G102D		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	102										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGCTGAACGGCAGCCACCTG	0.701													A	544759	G	A	544759	3	1	14	1	0	0	0	0	1	0	0	0	9082	1203	42	2	315	2	LRRC56	11	544759	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		544759	134461757	25	970											
SLC22A25	387601	broad.mit.edu	37	chr11	62995959	62995959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatggccatataggttGcctcccaccatcattccagc	11	9	7	14	0	1	0	1	0	0	0	3	1	3	0	5	2	2	1	5	2	3	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:62995959G>A	uc001nwr.1	-	1	480	c.480C>T	c.(478-480)ggC>ggT	p.G160G	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Silent_p.G160G	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	160					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CATATAGGTTGCCTCCCACCA	0.408													A	62995959	G	A	62995959	2	1	14	1	0	0	0	0	0	0	0	1	14548	1306	46	2		2	SLC22A25	11	62995959	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	62451200	62995959	72010557	26	971											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:85375242_85375244delCTT	uc001pas.2	-	0	939_941	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(2)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	14	1	0	1	0	1	0	0	0	0	3894	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-06-0129-01A-01D-1490-08	22379283	85375242	49631274	27	972											
EXPH5	23086	broad.mit.edu	37	chr11	108382300	108382300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggacatctttagattttCacatgaaggtgttcctgact	10	14	9	8	1	2	3	1	2	1	1	3	5	3	4	1	2	0	1	1	2	2	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr11:108382300C>T	uc001pkk.3	-	5	4045	c.3934G>A	c.(3934-3936)Gaa>Aaa	p.E1312K	EXPH5_uc010rvz.2_Missense_Mutation_p.E1156K|EXPH5_uc010rvy.2_Missense_Mutation_p.E1124K	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1312					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTTAGATTTTCACATGAAGGT	0.413													T	108382300	C	T	108382300	3	4	14	1	0	0	0	0	1	0	0	0	5364	835	29	2	2039	2	EXPH5	11	108382300	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	23007058	108382300	26624216	28	973											
LRRK2	120892	broad.mit.edu	37	chr12	40668431	40668431	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtggattaaaagtaatttCttctattgtacattttcctg	11	19	6	5	0	2	0	0	0	2	0	3	1	3	1	1	1	1	2	1	1	5	9			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:40668431C>G	uc001rmg.4	+	14	1824	c.1703C>G	c.(1702-1704)tCt>tGt	p.S568C	LRRK2_uc001rmh.1_Missense_Mutation_p.S190C	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	568					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AAAGTAATTTCTTCTATTGTA	0.358													G	40668431	C	G	40668431	3	3	14	1	0	0	0	0	1	0	0	0	9103	913	32	4	1761	4	LRRK2	12	40668431	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		40668431	93183464	29	974											
ANKRD52	283373	broad.mit.edu	37	chr12	56638930	56638930	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtttccttccaggtacgAaaacgggctgtgttcaagta	9	11	13	8	2	1	0	1	0	0	0	3	1	3	0	2	4	2	5	2	4	5	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56638930A>G	uc001skm.4	-	21	2539	c.2449T>C	c.(2449-2451)Tcg>Ccg	p.S817P		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	817							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						TCCAGGTACGAAAACGGGCTG	0.522													G	56638930	A	G	56638930	3	3	14	1	0	0	0	0	1	0	0	0	678	246	9	3	809	3	ANKRD52	12	56638930	Missense_Mutation	SNP	A	TCGA-06-0129-01A-01D-1490-08	15970499	56638930	77212965	30	975											
ANKRD52	283373	broad.mit.edu	37	chr12	56639372	56639372	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcagtcctcacagccAgtcactgcctgtgagtaaca	10	7	10	14	0	2	1	2	1	0	0	3	1	3	1	4	1	3	2	4	1	1	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:56639372A>C	uc001skm.4	-	20	2283	c.2193T>G	c.(2191-2193)acT>acG	p.T731T		NM_173595	NP_775866	Q8NB46	ANR52_HUMAN	Homo sapiens ankyrin repeat domain 52 (ANKRD52), mRNA.	731							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						CCTCACAGCCAGTCACTGCCT	0.587													C	56639372	A	C	56639372	2	2	14	1	0	0	0	0	0	0	0	1	678	175	7	5		5	ANKRD52	12	56639372	Silent	SNP	A	TCGA-06-0129-01A-01D-1490-08	442	56639372	77212523	31	976											
IL22	50616	broad.mit.edu	37	chr12	68647046	68647046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattgagatgtatacctcCttagccagcatgaaggtgcg	11	10	12	8	1	0	2	0	2	0	1	1	4	1	3	3	2	4	2	3	2	4	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:68647046C>G	uc001sty.1	-	0	236	c.183G>C	c.(181-183)aaG>aaC	p.K61N	IL22_uc010stb.1_Missense_Mutation_p.K61N	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	61					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		TGTATACCTCCTTAGCCAGCA	0.483													G	68647046	C	G	68647046	3	3	14	1	0	0	0	0	1	0	0	0	7730	680	24	4	376	4	IL22	12	68647046	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	12007674	68647046	65204849	32	977											
RPLP0	6175	broad.mit.edu	37	chr12	120636422	120636422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggttgtagatgctgcCattgtcgaacacctgctgga	8	12	12	9	1	1	1	1	0	0	1	2	3	1	2	2	2	4	4	2	2	2	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:120636422C>T	uc001txp.3	-	5	823	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	RPLP0_uc001txr.3_Intron|RPLP0_uc001txq.3_Missense_Mutation_p.G196S|RPLP0_uc021ret.1_Non-coding_Transcript|LOC100506649_uc021reu.1_5'Flank	NM_053275	NP_444505	P05388	RLA0_HUMAN	Homo sapiens ribosomal protein, large, P0 (RPLP0), transcript variant 2, mRNA.	196					endocrine pancreas development|interspecies interaction between organisms|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleus	protein binding|RNA binding|structural constituent of ribosome			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	15	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGATGCTGCCATTGTCGAAC	0.532													T	120636422	C	T	120636422	3	4	14	1	0	0	0	0	1	0	0	0	13695	594	21	2	379	2	RPLP0	12	120636422	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	51989376	120636422	13215473	33	978											
HIP1R	9026	broad.mit.edu	37	chr12	123346052	123346052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgtggcccccagacaGgaccaccaggtgccgtctgc	7	4	12	18	2	1	1	0	0	1	1	1	2	1	2	6	3	3	0	6	3	0	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr12:123346052G>A	uc001udj.1	+	30	3209	c.3150G>A	c.(3148-3150)caG>caA	p.Q1050Q	HIP1R_uc001udk.1_Silent_p.Q315Q	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	1050					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CCCCCAGACAGGACCACCAGG	0.677													A	123346052	G	A	123346052	2	1	14	1	0	0	0	0	0	0	0	1	7170	991	35	2		2	HIP1R	12	123346052	Silent	SNP	G	TCGA-06-0129-01A-01D-1490-08	2709630	123346052	10505843	34	979											
NALCN	259232	broad.mit.edu	37	chr13	102047697	102047697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgatgatggcacagatgCgcagcaaagagtgaacccac	13	5	12	11	2	0	5	0	3	0	2	0	5	0	5	1	1	3	4	1	1	2	0			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr13:102047697C>T	uc001vox.1	-	2	317	c.128G>A	c.(127-129)cGc>cAc	p.R43H	NALCN_uc001voy.3_5'UTR|NALCN_uc001voz.2_Missense_Mutation_p.R43H|NALCN_uc001vpa.2_Missense_Mutation_p.R43H	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	43						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GGCACAGATGCGCAGCAAAGA	0.433													T	102047697	C	T	102047697	3	4	14	1	0	0	0	0	1	0	0	0	10224	768	27	1	5256	1	NALCN	13	102047697	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		102047697	13122181	35	980											
OR4N2	390429	broad.mit.edu	37	chr14	20295961	20295961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattactccttgttgtgatGgcctttgaccgctacatcgc	6	14	10	11	2	0	2	0	2	0	0	2	3	1	3	3	2	2	2	3	2	2	5			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:20295961G>A	uc010tkv.2	+	0	354	c.354G>A	c.(352-354)atG>atA	p.M118I		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	118					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGTTGTGATGGCCTTTGACC	0.517													A	20295961	G	A	20295961	3	1	14	1	0	0	0	0	1	0	0	0	11153	1348	47	2	356	2	OR4N2	14	20295961	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		20295961	87053579	36	981											
MIA2	117153	broad.mit.edu	37	chr14	39703346	39703348	+	In_Frame_Del	DEL	CTT	CTT	-																															aatttggcgttcacagaatcCttcttctggctatttctctg																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr14:39703346_39703348delCTT	uc001wux.3	+	0	222_224	c.28_30delCTT	c.(28-30)cttdel	p.L12del	MIA2_uc010amy.2_5'UTR	NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	12						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TCACAGAATCCTTCTTCTGGCTA	0.424													-	39703348	CTT	-	39703346	7	5	14	1	0	1	0	1	0	0	0	0	9639	681	24	0	30	0	MIA2	14	39703346	In_Frame_Del	DEL	CTT	TCGA-06-0129-01A-01D-1490-08	19407385	39703346	67646194	37	982											
DHX38	9785	broad.mit.edu	37	chr16	72130894	72130894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggatcgagactatgaccGcaagagggacagaggtaaac	14	4	15	8	3	0	4	0	1	0	3	1	7	0	6	1	3	1	2	1	3	4	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr16:72130894G>A	uc002fcb.3	+	2	852	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TXNL4B_uc010vmo.2_5'Flank|DHX38_uc010vmp.2_Intron|DHX38_uc010cgn.1_Non-coding_Transcript	NM_014003	NP_054722	Q92620	PRP16_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 38 (DHX38), mRNA.	166					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GACTATGACCGCAAGAGGGAC	0.488													A	72130894	G	A	72130894	3	1	14	1	0	0	0	0	1	0	0	0	4550	1087	38	1	503	1	DHX38	16	72130894	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		72130894	18223859	38	983											
OR3A1	4994	broad.mit.edu	37	chr17	3195464	3195464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggactgtctgactcatgCgggtgctgtaggtgaggggc	5	11	17	8	1	3	2	1	2	2	0	3	3	3	3	0	5	2	2	0	5	1	1	rs143631940		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:3195464C>T	uc002fvh.1	-	0	413	c.413G>A	c.(412-414)cGc>cAc	p.R138H		NM_002550	NP_002541	P47881	OR3A1_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 1 (OR3A1), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						CTGACTCATGCGGGTGCTGTA	0.582													T	3195464	C	T	3195464	3	4	14	1	0	0	0	0	1	0	0	0	11113	768	27	1	538	1	OR3A1	17	3195464	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		3195464	77999746	39	984											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	14	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	4382074	7577538	73617672	40	985											
CALR3	125972	broad.mit.edu	37	chr19	16593572	16593572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcttgctggtgctggCgtccagaaaatgcttctccc	5	12	11	13	1	2	1	0	0	2	1	4	1	3	1	2	2	4	5	2	2	2	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:16593572C>T	uc002ned.2	-	5	766	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	MED26_uc002nee.2_Non-coding_Transcript	NM_145046	NP_659483	Q96L12	CALR3_HUMAN	Homo sapiens calreticulin 3 (CALR3), mRNA.	235	4 X approximate repeats.|P-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CTGGTGCTGGCGTCCAGAAAA	0.498													T	16593572	C	T	16593572	3	4	14	1	0	0	0	0	1	0	0	0	2619	768	27	1	467	1	CALR3	19	16593572	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		16593572	42535411	41	986											
ZNF790	388536	broad.mit.edu	37	chr19	37310870	37310870	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttgaagtgtttgaaactGagtgttgccttcccagtcac	9	14	9	9	0	2	3	1	3	1	0	3	3	3	3	2	0	2	2	2	0	2	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:37310870G>A	uc021utk.1	-	4	805	c.376C>T	c.(376-378)Cag>Tag	p.Q126*	LOC284408_uc021utj.1_Intron|LOC284408_uc002oev.2_Intron|ZNF790_uc002oew.3_Nonsense_Mutation_p.Q126*|ZNF790_uc021utl.1_Nonsense_Mutation_p.Q126*|ZNF790_uc021utm.1_Nonsense_Mutation_p.Q126*	NM_001242802	NP_001229731	Q6PG37	ZN790_HUMAN	Homo sapiens zinc finger protein 790 (ZNF790), transcript variant 4, mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GTTTGAAACTGAGTGTTGCCT	0.383													A	37310870	G	A	37310870	4	1	14	1	0	0	0	0	0	1	0	0	18261	1299	45	2	1538	2	ZNF790	19	37310870	Nonsense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08	20717298	37310870	21818113	42	987											
SIGLEC6	946	broad.mit.edu	37	chr19	52033694	52033694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactggctggttcctacctgCgctgtttccttggaagatgc	5	13	12	11	1	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	2	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr19:52033694C>T	uc002pwy.3	-	3	959	c.751G>A	c.(751-753)Gca>Aca	p.A251T	SIGLEC6_uc002pwz.3_Intron|SIGLEC6_uc010ydb.2_Intron|SIGLEC6_uc010ydc.2_Missense_Mutation_p.A262T|SIGLEC6_uc002pxa.3_Missense_Mutation_p.A251T|SIGLEC6_uc010eoz.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epa.2_Missense_Mutation_p.A240T|SIGLEC6_uc010epb.2_Missense_Mutation_p.A204T	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	251	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		p.A251T(1)		endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TTCCTACCTGCGCTGTTTCCT	0.562													T	52033694	C	T	52033694	3	4	14	1	0	0	0	0	1	0	0	0	14406	768	27	1	630	1	SIGLEC6	19	52033694	Missense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08	14722824	52033694	7095289	43	988											
DEFB125	245938	broad.mit.edu	37	chr20	77035	77035	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agactatgccaccaccttctCagacagctcttactcataat	12	11	4	14	0	3	2	2	0	2	2	4	2	3	2	3	0	3	1	3	0	3	4			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:77035C>T	uc002wcw.3	+	1	448	c.448C>T	c.(448-450)Cag>Tag	p.Q150*		NM_153325	NP_697020	Q8N687	DB125_HUMAN	Homo sapiens defensin, beta 125 (DEFB125), mRNA.	150					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.156)			ACCACCTTCTCAGACAGCTCT	0.428													T	77035	C	T	77035	4	4	14	1	0	0	0	0	0	1	0	0	4449	827	29	2	454	2	DEFB125	20	77035	Nonsense_Mutation	SNP	C	TCGA-06-0129-01A-01D-1490-08		77035	62948485	44	989											
ZNF343	79175	broad.mit.edu	37	chr20	2464182	2464182	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaggagtgatttccgActaaagcctcggccacactc	12	7	10	12	2	0	1	0	1	0	0	3	4	1	3	3	3	1	0	3	3	3	2			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:2464182A>G	uc002wge.1	-	5	1913	c.1425T>C	c.(1423-1425)agT>agC	p.S475S	ZNF343_uc010gao.1_Silent_p.S475S|ZNF343_uc002wgd.1_Silent_p.S385S	NM_024325	NP_077301	Q6P1L6	ZN343_HUMAN	Homo sapiens zinc finger protein 343 (ZNF343), mRNA.	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S475S(4)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						GTGATTTCCGACTAAAGCCTC	0.527													G	2464182	A	G	2464182	2	3	14	1	0	0	0	0	0	0	0	1	17959	272	10	3		3	ZNF343	20	2464182	Silent	SNP	A	TCGA-06-0129-01A-01D-1490-08	2387147	2464182	60561338	45	990											
CEP250	11190	broad.mit.edu	37	chr20	34084435	34084436	+	Frame_Shift_Del	DEL	AG	AG	-																															gtcactgatggaaaaggaacAgagactccttgttttacaag																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr20:34084435_34084436delAG	uc021wco.1	+	24	3844_3845	c.3197_3198delAG	c.(3196-3198)cagfs	p.Q1066fs	CEP250_uc010zve.2_Frame_Shift_Del_p.Q434fs	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	1066	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAAAAGGAACAGAGACTCCTTG	0.48													-	34084436	AG	-	34084435	7	5	14	1	0	1	0	1	0	0	0	0	3282	188	7	0	3283	0	CEP250	20	34084435	Frame_Shift_Del	DEL	AG	TCGA-06-0129-01A-01D-1490-08	31620253	34084435	28941085	46	991											
HMOX1	3162	broad.mit.edu	37	chr22	35783113	35783113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccctggagatgactcccGcagtcaggcagagggtgata	10	7	13	11	1	1	4	1	2	0	2	3	5	3	4	2	3	0	2	2	3	1	1			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:35783113G>A	uc003ant.2	+	2	687	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_002133	NP_002124	P09601	HMOX1_HUMAN	Homo sapiens heme oxygenase (decycling) 1 (HMOX1), mRNA.	194					angiogenesis|anti-apoptosis|cell death|cellular iron ion homeostasis|endothelial cell proliferation|erythrocyte homeostasis|heme catabolic process|heme oxidation|intracellular protein kinase cascade|low-density lipoprotein particle clearance|negative regulation of leukocyte migration|negative regulation of smooth muscle cell proliferation|positive regulation of chemokine biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of smooth muscle cell proliferation|protein homooligomerization|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hydrogen peroxide|response to nicotine|smooth muscle hyperplasia|transmembrane transport|wound healing involved in inflammatory response	endoplasmic reticulum membrane|extracellular space|microsome	enzyme binding|heme binding|heme oxygenase (decyclizing) activity|protein homodimerization activity|signal transducer activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	16					NADH(DB00157)	GATGACTCCCGCAGTCAGGCA	0.622													A	35783113	G	A	35783113	3	1	14	1	0	0	0	0	1	0	0	0	7298	1087	38	1	590	1	HMOX1	22	35783113	Missense_Mutation	SNP	G	TCGA-06-0129-01A-01D-1490-08		35783113	15521453	47	992											
MYH9	4627	broad.mit.edu	37	chr22	36745230	36745232	+	In_Frame_Del	DEL	TGA	TGA	-																															ggcctgggccagcggattgtTgatgaagtttttatccacat																										TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chr22:36745230_36745232delTGA	uc003apg.3	-	1	281_283	c.50_52delTCA	c.(49-54)atcaac>aac	p.I17del	MYH9_uc003api.1_In_Frame_Del_p.I17del	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	17	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						AGCGGATTGTTGATGAAGTTTTT	0.542			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				-	36745232	TGA	-	36745230	7	5	14	1	0	1	0	1	0	0	0	0	10118	1812	63	0	5990	0	MYH9	22	36745230	In_Frame_Del	DEL	TGA	TCGA-06-0129-01A-01D-1490-08	962117	36745230	14559336	48	993											
P2RY8	286530	broad.mit.edu	37	chrX	1584564	1584564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctggaattcccgggaCgcaaagtaataaacaaacgg	15	5	11	10	4	0	0	0	0	0	0	1	2	1	2	1	3	3	4	1	3	6	3			TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:1584564C>T	uc022brv.1	-	0	888	c.888G>A	c.(886-888)gcG>gcA	p.A296A	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.A296A	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	296						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATTCCCGGGACGCAAAGTAAT	0.602			T	CRLF2	"B-ALL, Downs associated ALL"								T	1584564	C	T	1584564	2	4	14	1	0	0	0	0	0	0	0	1	11431	523	19	1		1	P2RY8	23	1584564	Silent	SNP	C	TCGA-06-0129-01A-01D-1490-08		1584564	153685996	49	994											
ATRX	546	broad.mit.edu	37	chrX	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gccttctgctgaagagaaagTctctctctcttgttttcttt																								rs141180098		TCGA-06-0129-01A-01D-1490-08	TCGA-06-0129-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	73e7aa35-91b4-4392-bbb9-9ec21f30250c	9b321fd2-a9f5-4cb0-9a18-2dc271056285	g.chrX:76938089_76938092delTCTC	uc004ecp.4	-	8	2888_2891	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.E886fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.E848fs|ATRX_uc004eco.4_Frame_Shift_Del_p.E671fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.E818fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.E857fs|ATRX_uc010nly.1_Frame_Shift_Del_p.E831fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	886					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.E886fs*18(2)|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)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938092	TCTC	-	76938089	7	5	14	1	0	1	0	1	0	0	0	0	1213	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-06-0129-01A-01D-1490-08	75353525	76938089	78332471	50	995											
CLCN6	1185	broad.mit.edu	37	chr1	11897130	11897130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcctacccatccagcgaGctacggaacatgtgtgatga	12	8	10	11	2	0	2	0	2	0	0	2	4	2	3	3	1	5	1	3	1	4	2	rs137976806		TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:11897130G>C	uc001ate.4	+	18	2168	c.2055G>C	c.(2053-2055)gaG>gaC	p.E685D	CLCN6_uc010oat.2_Missense_Mutation_p.E401D|CLCN6_uc010oau.2_Missense_Mutation_p.E663D	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	685					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCAGCGAGCTACGGAACA	0.622													C	11897130	G	C	11897130	3	2	15	1	0	0	0	0	1	0	0	0	3498	962	34	4	2139	4	CLCN6	1	11897130	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		11897130	237353491	1	996											
CSMD2	114784	broad.mit.edu	37	chr1	34035009	34035009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagccactccagagcccaTtggccatgcactcacgcacc	10	5	8	18	1	1	2	1	0	0	2	2	2	2	2	5	1	3	2	5	1	0	1	rs143469891	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:34035009T>C	uc001bxm.1	-	51	8273	c.8096A>G	c.(8095-8097)aAt>aGt	p.N2699S	CSMD2_uc001bxn.1_Missense_Mutation_p.N2701S	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2701	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CCAGAGCCCATTGGCCATGCA	0.547													C	34035009	T	C	34035009	3	2	15	1	0	0	0	0	1	0	0	0	3978	1493	52	3	2429	3	CSMD2	1	34035009	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	22137879	34035009	215215612	2	997											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948728	37948728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaggattgcctggactcggGcattggctccctggagagcc	6	8	14	13	1	0	1	0	0	0	1	2	4	1	3	4	5	2	2	4	5	0	2			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:37948728G>A	uc001cbb.4	+	5	1466	c.1316G>A	c.(1315-1317)gGc>gAc	p.G439D	ZC3H12A_uc001cbc.1_Missense_Mutation_p.G234D	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	439					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGACTCGGGCATTGGCTCC	0.662													A	37948728	G	A	37948728	3	1	15	1	0	0	0	0	1	0	0	0	17662	1203	42	2	1334	2	ZC3H12A	1	37948728	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	3913719	37948728	211301893	3	998											
CACNA1E	777	broad.mit.edu	37	chr1	181700365	181700365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggagccacgcagcagccaCctgtatgtgtgtaccagttt	8	10	12	11	1	0	0	0	0	0	0	0	1	0	1	4	1	4	5	4	1	2	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr1:181700365C>A	uc009wxt.3	+	18	2490	c.2295C>A	c.(2293-2295)caC>caA	p.H765Q	CACNA1E_uc001gow.3_Missense_Mutation_p.H765Q|CACNA1E_uc009wxs.3_Intron|CACNA1E_uc001gox.1_5'Flank	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	765					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GCAGCAGCCACCTGTATGTGT	0.522													A	181700365	C	A	181700365	3	1	15	1	0	0	0	0	1	0	0	0	2568	506	18	4	2369	4	CACNA1E	1	181700365	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	143751637	181700365	67550256	4	999											
TTN	7273	broad.mit.edu	37	chr2	179458768	179458768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatttgccggaatctgaaCgtttggccttgatcttctct	7	16	9	9	2	3	2	0	2	3	0	4	3	3	3	2	2	2	2	2	2	3	5			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:179458768C>T	uc021vsy.1	-	245	50873	c.50648G>A	c.(50647-50649)cGt>cAt	p.R16883H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578H|TTN_uc021vta.1_Missense_Mutation_p.R10511H|TTN_uc021vtb.1_Missense_Mutation_p.R10386H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17810	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAATCTGAACGTTTGGCCTT	0.418													T	179458768	C	T	179458768	3	4	15	1	0	0	0	0	1	0	0	0	16837	536	19	1	49891	1	TTN	2	179458768	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		179458768	63740605	5	1000											
SF3B1	23451	broad.mit.edu	37	chr2	198267698	198267698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaattagaaatgatctctCggccttccactctagcatag	12	11	6	12	1	2	2	0	1	2	1	5	2	3	2	3	1	1	1	3	1	5	4			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr2:198267698C>T	uc002uue.3	-	12	1829	c.1781G>A	c.(1780-1782)cGa>cAa	p.R594Q		NM_012433	NP_036565	O75533	SF3B1_HUMAN	Homo sapiens splicing factor 3b, subunit 1, 155kDa (SF3B1), transcript variant 1, mRNA.	594				R -> L (in Ref. 1; AAC97189).	nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AATGATCTCTCGGCCTTCCAC	0.338			Mis		myelodysplastic syndrome								T	198267698	C	T	198267698	3	4	15	1	0	0	0	0	1	0	0	0	14242	884	31	1	2185	1	SF3B1	2	198267698	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	18808930	198267698	44931675	6	1001											
PLCD1	5333	broad.mit.edu	37	chr3	38052749	38052749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgagggagagggccagcGcaggccctgccgcctcctcc	7	4	14	16	2	0	2	0	1	0	1	2	3	2	2	6	3	2	1	6	3	1	0			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:38052749G>A	uc003chm.3	-	4	1163	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PLCD1_uc003chn.3_Missense_Mutation_p.A249V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	249					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		GAGGGCCAGCGCAGGCCCTGC	0.687													A	38052749	G	A	38052749	3	1	15	1	0	0	0	0	1	0	0	0	12108	1087	38	1	1568	1	PLCD1	3	38052749	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		38052749	159969681	7	1002											
CX3CR1	1524	broad.mit.edu	37	chr3	39307436	39307436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccacattgcggagcaCgggccagatttcctggagga	8	10	13	10	2	0	1	0	0	0	1	2	4	2	4	3	4	2	2	3	4	0	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:39307436C>T	uc021wwc.1	-	1	701	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	CX3CR1_uc021wwa.1_Missense_Mutation_p.V189M|CX3CR1_uc021wwb.1_Missense_Mutation_p.V189M|CX3CR1_uc003cjl.3_Missense_Mutation_p.V189M|CX3CR1_uc021wwd.1_Missense_Mutation_p.V189M	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	189					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		TTGCGGAGCACGGGCCAGATT	0.483													T	39307436	C	T	39307436	3	4	15	1	0	0	0	0	1	0	0	0	4108	536	19	1	506	1	CX3CR1	3	39307436	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	1254687	39307436	158714994	8	1003											
CLEC3B	7123	broad.mit.edu	37	chr3	45077251	45077251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctgggtggacatgacCggcgcccgcatcgcctacaa	8	5	13	15	4	0	1	0	1	0	0	1	2	0	2	4	4	1	2	4	4	2	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:45077251C>T	uc003cok.4	+	2	540	c.444C>T	c.(442-444)acC>acT	p.T148T		NM_003278	NP_003269	P05452	TETN_HUMAN	Homo sapiens C-type lectin domain family 3, member B (CLEC3B), mRNA.	148	C-type lectin.				skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGACATGACCGGCGCCCGCA	0.667													T	45077251	C	T	45077251	2	4	15	1	0	0	0	0	0	0	0	1	3542	639	23	1		1	CLEC3B	3	45077251	Silent	SNP	C	TCGA-06-0130-01A-01D-1490-08	5769815	45077251	152945179	9	1004											
ARMC8	25852	broad.mit.edu	37	chr3	137991889	137991889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacagctattccggttattAtcagattcagatttgaatgt	12	15	8	6	1	2	3	2	1	0	2	3	4	3	3	1	1	2	2	1	1	5	6			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr3:137991889A>G	uc003esa.1	+	17	1885	c.1518A>G	c.(1516-1518)ttA>ttG	p.L506L	NME9_uc003esd.1_Intron|NME9_uc010huf.1_Intron|NME9_uc003ese.1_Intron|ARMC8_uc011bmf.1_Silent_p.L489L|ARMC8_uc011bmg.1_Silent_p.L453L|ARMC8_uc011bmh.1_Silent_p.L447L|ARMC8_uc003esb.1_Silent_p.L478L|ARMC8_uc003esc.1_Silent_p.L278L|ARMC8_uc003esf.1_Silent_p.L89L	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	520							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TCCGGTTATTATCAGATTCAG	0.368													G	137991889	A	G	137991889	2	3	15	1	0	0	0	0	0	0	0	1	962	446	16	3		3	ARMC8	3	137991889	Silent	SNP	A	TCGA-06-0130-01A-01D-1490-08	92914638	137991889	60030541	10	1005											
TEC	7006	broad.mit.edu	37	chr4	48140944	48140944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaccagacatctgatttgCtgctgaagcggctgtaatta	11	12	10	8	1	1	4	0	3	1	1	1	4	1	4	1	1	3	4	1	1	3	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:48140944C>T	uc003gxz.3	-	15	1722	c.1631G>A	c.(1630-1632)aGc>aAc	p.S544N		NM_003215	NP_003206	P42680	TEC_HUMAN	Homo sapiens tec protein tyrosine kinase (TEC), mRNA.	544	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						ATCTGATTTGCTGCTGAAGCG	0.438													T	48140944	C	T	48140944	3	4	15	1	0	0	0	0	1	0	0	0	15842	797	28	2	276	2	TEC	4	48140944	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		48140944	143013332	11	1006											
KIAA0922	23240	broad.mit.edu	37	chr4	154517485	154517485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaatgaaaagggttggcGtagttttcacacctgctgac	11	11	12	7	1	1	2	1	2	0	0	1	3	1	3	1	3	1	4	1	3	4	4			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr4:154517485G>A	uc010ipp.3	+	19	2123	c.2071G>A	c.(2071-2073)Gta>Ata	p.V691I	KIAA0922_uc003inm.4_Missense_Mutation_p.V690I|KIAA0922_uc010ipq.3_Missense_Mutation_p.V459I	NM_001131007	NP_001124479	A2VDJ0	T131L_HUMAN	Homo sapiens KIAA0922 (KIAA0922), transcript variant 1, mRNA.	690						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AAGGGTTGGCGTAGTTTTCAC	0.423													A	154517485	G	A	154517485	3	1	15	1	0	0	0	0	1	0	0	0	8259	1145	40	1	2149	1	KIAA0922	4	154517485	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	106376541	154517485	36636791	12	1007											
CYP21A2	1589	broad.mit.edu	37	chr6	32006249	32006249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgctggctggcgcccGcctgctgtggaactggtgga	3	8	16	14	2	0	0	0	0	0	0	0	2	0	2	4	5	3	3	4	5	1	0			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:32006249G>A	uc003nze.2	+	0	157	c.50G>A	c.(49-51)cGc>cAc	p.R17H	CYP21A2_uc003nzf.2_Missense_Mutation_p.R17H	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	16					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						GCTGGCGCCCGCCTGCTGTGG	0.677													A	32006249	G	A	32006249	3	1	15	1	0	0	0	0	1	0	0	0	4186	1087	38	1	1573	1	CYP21A2	6	32006249	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		32006249	139108818	13	1008											
COL12A1	1303	broad.mit.edu	37	chr6	75797410	75797410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acggccaggggggccaggggGacctcttgaacctgtggacc	7	5	17	12	1	1	1	0	1	1	0	1	3	1	3	5	7	1	0	5	7	1	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr6:75797410G>A	uc021zbv.1	-	63	9099	c.9064C>T	c.(9064-9066)Ccc>Tcc	p.P3022S	COL12A1_uc021zbw.1_Missense_Mutation_p.P1858S|COL12A1_uc003phs.3_Missense_Mutation_p.P3022S|COL12A1_uc003pht.3_Missense_Mutation_p.P1858S	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	3022	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.P3022T(2)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GGGCCAGGGGGACCTCTTGAA	0.522													A	75797410	G	A	75797410	3	1	15	1	0	0	0	0	1	0	0	0	3700	1174	41	2	135	2	COL12A1	6	75797410	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	43791161	75797410	95317657	14	1009											
MEST	4232	broad.mit.edu	37	chr7	130139717	130139717	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agataagtctcttctacaggTatctttcctgagactcaccg	10	13	7	11	1	4	2	1	1	3	2	6	3	5	2	2	1	1	1	2	1	3	5			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:130139717T>A	uc003vqg.3	+	7	792	c.536_splice	c.e7-1	p.G179_splice	MEST_uc003vqc.3_Splice_Site_p.G170_splice|MEST_uc003vqd.3_Splice_Site_p.G170_splice|MEST_uc022alp.1_Splice_Site_p.G170_splice|MEST_uc003vqf.3_Splice_Site_p.G170_splice|MEST_uc011kph.2_Splice_Site_p.G165_splice	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	179					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					CTTCTACAGGTATCTTTCCTG	0.413													A	130139717	T	A	130139717	2	1	15	1	0	0	0	0	0	0	0	1	9559	1652	57	5		5	MEST	7	130139717	Silent	SNP	T	TCGA-06-0130-01A-01D-1490-08		130139717	28998946	15	1010											
OR2F2	135948	broad.mit.edu	37	chr7	143632696	143632696	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctatgaccgccatgTggctgtgtctgaccgcctgc	5	10	13	13	2	1	2	0	2	1	0	1	3	1	2	5	2	1	1	5	2	1	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr7:143632696T>G	uc011ktv.2	+	0	371	c.371T>G	c.(370-372)gTg>gGg	p.V124G		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H123Y(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GACCGCCATGTGGCTGTGTCT	0.562													G	143632696	T	G	143632696	3	3	15	1	0	0	0	0	1	0	0	0	11073	1696	59	5	373	5	OR2F2	7	143632696	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	13492979	143632696	15505967	16	1011											
FBXO32	114907	broad.mit.edu	37	chr8	124518764	124518764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcagcctctgcatgatgttCagttgtaggcacaaaggcag	10	10	11	10	0	3	1	2	1	1	0	3	1	3	1	1	2	2	6	1	2	2	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr8:124518764C>T	uc003yqr.3	-	6	941	c.702G>A	c.(700-702)ctG>ctA	p.L234L	FBXO32_uc003yqp.2_Silent_p.L89L|FBXO32_uc010mdk.3_Silent_p.L141L	NM_058229	NP_680482	Q969P5	FBX32_HUMAN	Homo sapiens F-box protein 32 (FBXO32), transcript variant 1, mRNA.	234	F-box.									autonomic_ganglia(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)|stomach(1)	21	Lung NSC(37;1.13e-13)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			GCATGATGTTCAGTTGTAGGC	0.622													T	124518764	C	T	124518764	2	4	15	1	0	0	0	0	0	0	0	1	5791	813	29	2		2	FBXO32	8	124518764	Silent	SNP	C	TCGA-06-0130-01A-01D-1490-08		124518764	21845258	17	1012											
TEK	7010	broad.mit.edu	37	chr9	27206739	27206739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccaagttcttaaggcgCgcatcaagaaggatgggtta	11	10	13	7	2	2	1	1	0	1	1	2	2	2	2	1	4	0	3	1	4	5	4	rs147231791	by1000genomes	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr9:27206739C>T	uc011lno.2	+	13	2837	c.2395C>T	c.(2395-2397)Cgc>Tgc	p.R799C	TEK_uc003zqi.4_Missense_Mutation_p.R842C|TEK_uc011lnp.2_Missense_Mutation_p.R694C|TEK_uc003zqj.1_Missense_Mutation_p.R776C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	842					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTAAGGCGCGCATCAAGAA	0.453													T	27206739	C	T	27206739	3	4	15	1	0	0	0	0	1	0	0	0	15851	768	27	1	2582	1	TEK	9	27206739	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		27206739	114006692	18	1013											
OR4C6	219432	broad.mit.edu	37	chr11	55433335	55433335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttacagctctaaagggcgGcacaaagccctctctacctg	10	9	8	14	1	3	0	0	0	3	0	4	0	3	0	2	2	4	2	2	2	5	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr11:55433335G>A	uc010rik.2	+	0	693	c.693G>A	c.(691-693)cgG>cgA	p.R231R		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R231R(2)|p.R231W(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTAAAGGGCGGCACAAAGCCC	0.507													A	55433335	G	A	55433335	2	1	15	1	0	0	0	0	0	0	0	1	11128	1190	42	2		2	OR4C6	11	55433335	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08		55433335	79573181	19	1014											
HELB	92797	broad.mit.edu	37	chr12	66725048	66725048	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtgtatgtgattgcagagGagtctcagctccggaatgcc	9	10	14	8	1	1	2	1	1	1	1	3	5	2	4	2	2	3	3	2	2	2	2			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr12:66725048G>T	uc001sti.2	+	11	2813	c.2785G>T	c.(2785-2787)Gag>Tag	p.E929*	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	929					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GATTGCAGAGGAGTCTCAGCT	0.532													T	66725048	G	T	66725048	4	4	15	1	0	0	0	0	0	1	0	0	7100	1175	41	4	2831	4	HELB	12	66725048	Nonsense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		66725048	67126847	20	1015											
RB1	5925	broad.mit.edu	37	chr13	49039505	49039505	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgactccaagatcaagGtgtgtgttttctctttaggg	11	14	10	6	0	2	2	1	1	1	1	4	2	3	2	1	2	0	1	1	2	5	4			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr13:49039505G>T	uc001vcb.3	+	23	2655	c.2489_splice	c.e23+1	p.R830_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	830	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAAGATCAAGGTGTGTGTTTT	0.358		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49039505	G	T	49039505	5	4	15	1	0	0	0	0	0	0	1	0	13186	1275	44	4	2580	4	RB1	13	49039505	Splice_Site	SNP	G	TCGA-06-0130-01A-01D-1490-08		49039505	66130373	21	1016											
C14orf37	145407	broad.mit.edu	37	chr14	58605421	58605421	+	Frame_Shift_Del	DEL	T	T	-																															caaatttctcagtctttggaTtggtggttagcatttcctta																										TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr14:58605421delT	uc010tro.2	-	2	968	c.770delA	c.(769-771)aatfs	p.N257fs	C14orf37_uc001xdc.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xdd.3_Frame_Shift_Del_p.N219fs|C14orf37_uc001xde.3_Frame_Shift_Del_p.N219fs	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	219						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						AGTCTTTGGATTGGTGGTTAG	0.448													-	58605421	T	-	58605421	7	5	15	1	0	1	0	1	0	0	0	0	1784	1493	52	0	1696	0	C14orf37	14	58605421	Frame_Shift_Del	DEL	T	TCGA-06-0130-01A-01D-1490-08		58605421	48744119	22	1017											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658653	43658653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacactgttccagggtccGgaggaagccatattccctga	9	8	11	13	2	0	1	0	1	0	0	3	4	3	3	5	3	1	1	5	3	2	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:43658653G>A	uc001zrk.1	-	2	1024	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	ZSCAN29_uc001zrj.1_Missense_Mutation_p.R173W|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R292W|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R292W	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	293					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TCCAGGGTCCGGAGGAAGCCA	0.542													A	43658653	G	A	43658653	3	1	15	1	0	0	0	0	1	0	0	0	18333	1115	39	1	1693	1	ZSCAN29	15	43658653	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		43658653	58872739	23	1018											
FANCI	55215	broad.mit.edu	37	chr15	89859689	89859689	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagaagaaaaggaaaaaatAaatgaaatgcctgagttaat	23	7	8	3	0	0	4	0	2	0	2	0	5	0	5	1	1	1	1	1	1	11	2			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr15:89859689A>C	uc010bnp.1	+	37	4076	c.3986A>C	c.(3985-3987)tAa>tCa	p.*1329S	FANCI_uc002bnm.1_Nonstop_Mutation_p.*1269S|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Nonstop_Mutation_p.*1089S|FANCI_uc002bnq.1_Nonstop_Mutation_p.*742S|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	0					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					AGGAAAAAATAAATGAAATGC	0.438								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C	89859689	A	C	89859689	4	2	15	1	0	0	0	0	0	0	0	0	5718	369	13	5	4132	5	FANCI	15	89859689	Nonstop_Mutation	SNP	A	TCGA-06-0130-01A-01D-1490-08	46201036	89859689	12671703	24	1019											
CHST5	23563	broad.mit.edu	37	chr16	75563927	75563927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgcacaaaaagatagagCgcatcaggtcgcgcacggcc	12	5	12	12	5	1	2	1	0	0	2	3	2	1	2	1	2	1	3	1	2	3	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75563927C>T	uc002fej.1	-	4	695	c.374G>A	c.(373-375)cGc>cAc	p.R125H	CHST5_uc002fei.3_Missense_Mutation_p.R119H|CHST5_uc021tlk.1_Missense_Mutation_p.R119H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	119					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AAAGATAGAGCGCATCAGGTC	0.617													T	75563927	C	T	75563927	3	4	15	1	0	0	0	0	1	0	0	0	3437	768	27	1	883	1	CHST5	16	75563927	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		75563927	14790826	25	1020											
KARS	3735	broad.mit.edu	37	chr16	75670442	75670442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcttttggcatggatcCtacctagaaaaagaagagca	15	9	9	8	0	1	3	0	0	1	3	2	4	2	4	2	2	3	3	2	2	6	4			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr16:75670442C>G	uc002feq.3	-	3	440	c.392G>C	c.(391-393)aGg>aCg	p.R131T	KARS_uc002fer.3_Missense_Mutation_p.R159T|KARS_uc010cgz.3_5'UTR	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	131					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	GGCATGGATCCTACCTAGAAA	0.408													G	75670442	C	G	75670442	3	3	15	1	0	0	0	0	1	0	0	0	8038	681	24	4	1445	4	KARS	16	75670442	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08	106515	75670442	14684311	26	1021											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			T	7578457	C	T	7578457	3	4	15	1	0	0	0	0	1	0	0	0	16482	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		7578457	73616753	27	1022											
CYP4F2	8529	broad.mit.edu	37	chr19	15989675	15989675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtggtcaggcaggacgCggaagcgcagcagcgtgagc	8	4	19	10	5	1	1	1	1	0	0	1	3	1	3	0	5	4	3	0	5	1	0	rs143677430	byFrequency	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:15989675C>T	uc002nbs.1	-	12	1519	c.1469G>A	c.(1468-1470)cGc>cAc	p.R490H	CYP4F2_uc010xot.1_Missense_Mutation_p.R341H	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	490					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AGGCAGGACGCGGAAGCGCAG	0.672													T	15989675	C	T	15989675	3	4	15	1	0	0	0	0	1	0	0	0	4221	768	27	1	97	1	CYP4F2	19	15989675	Missense_Mutation	SNP	C	TCGA-06-0130-01A-01D-1490-08		15989675	43139308	28	1023											
ZNF578	147660	broad.mit.edu	37	chr19	53014344	53014344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccaatgtaatgagactgGcgaagcctttaattgtagct	11	14	9	7	1	0	1	0	1	0	1	1	3	1	1	2	1	2	3	2	1	5	6			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:53014344G>T	uc002pzp.4	+	5	954	c.710G>T	c.(709-711)gGc>gTc	p.G237V		NM_001099694	NP_001093164	Q96N58	ZN578_HUMAN	Homo sapiens zinc finger protein 578 (ZNF578), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		AATGAGACTGGCGAAGCCTTT	0.313													T	53014344	G	T	53014344	3	4	15	1	0	0	0	0	1	0	0	0	18111	1203	42	4	720	4	ZNF578	19	53014344	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08	37024669	53014344	6114639	29	1024											
LAIR1	3903	broad.mit.edu	37	chr19	54875933	54875933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatggtctgggccaggcaGagcactggaagagaagcccc	10	5	16	10	0	1	2	0	0	1	2	1	5	1	4	3	5	2	2	3	5	2	0			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr19:54875933G>A	uc002qfk.1	-	1	349	c.39C>T	c.(37-39)ctC>ctT	p.L13L	LAIR1_uc002qfl.1_Silent_p.L13L|LAIR1_uc002qfm.1_Silent_p.L13L|LAIR1_uc002qfn.1_Silent_p.L13L|LAIR1_uc010yex.2_Silent_p.L7L|LAIR1_uc002qfo.3_Intron	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	13						integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		GGGCCAGGCAGAGCACTGGAA	0.617													A	54875933	G	A	54875933	2	1	15	1	0	0	0	0	0	0	0	1	8661	929	33	2		2	LAIR1	19	54875933	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08	1861589	54875933	4253050	30	1025											
PTPRA	5786	broad.mit.edu	37	chr20	3003414	3003414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagaacggaaggtggacGtgtatggctttgtgagccgg	10	9	16	6	3	0	2	0	1	0	1	0	4	0	4	1	5	3	2	1	5	4	3	rs117251752	by1000genomes	TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:3003414G>A	uc010zqd.2	+	14	1758	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	PTPRA_uc002whj.3_Missense_Mutation_p.V470M|PTPRA_uc002whk.3_Missense_Mutation_p.V461M|PTPRA_uc002whl.3_Missense_Mutation_p.V461M|PTPRA_uc002whm.3_Missense_Mutation_p.V237M|PTPRA_uc002whn.3_Missense_Mutation_p.V461M|PTPRA_uc002who.3_Missense_Mutation_p.V133M	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	470	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAAGGTGGACGTGTATGGCTT	0.577													A	3003414	G	A	3003414	3	1	15	1	0	0	0	0	1	0	0	0	12883	1145	40	1	1458	1	PTPRA	20	3003414	Missense_Mutation	SNP	G	TCGA-06-0130-01A-01D-1490-08		3003414	60022106	31	1026											
KIF16B	55614	broad.mit.edu	37	chr20	16496298	16496298	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcacgacatctgtgccgagGgttttgaaaacctgaaagcc	11	10	10	10	2	2	2	1	2	1	0	2	4	2	2	3	1	3	1	3	1	3	3			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:16496298G>A	uc002wpg.2	-	3	402	c.243C>T	c.(241-243)acC>acT	p.T81T	KIF16B_uc010gch.2_Silent_p.T81T|KIF16B_uc010gci.2_Silent_p.T81T|KIF16B_uc010gcj.2_Silent_p.T81T	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	81	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGTGCCGAGGGTTTTGAAAA	0.373													A	16496298	G	A	16496298	2	1	15	1	0	0	0	0	0	0	0	1	8336	1219	43	2		2	KIF16B	20	16496298	Silent	SNP	G	TCGA-06-0130-01A-01D-1490-08	13492884	16496298	46529222	32	1027											
WFDC8	90199	broad.mit.edu	37	chr20	44181787	44181787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttacctgtccaggcccTggcacaaacaaagccacacc	12	6	6	17	0	0	0	0	0	0	0	2	0	2	0	6	2	3	1	6	2	3	1			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr20:44181787T>C	uc002xow.3	-	4	653	c.574A>G	c.(574-576)Agg>Ggg	p.R192G	WFDC8_uc002xox.3_Missense_Mutation_p.R192G	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	192	WAP 2.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				GTCCAGGCCCTGGCACAAACA	0.502													C	44181787	T	C	44181787	3	2	15	1	0	0	0	0	1	0	0	0	17458	1579	55	3	159	3	WFDC8	20	44181787	Missense_Mutation	SNP	T	TCGA-06-0130-01A-01D-1490-08	27685489	44181787	18843733	33	1028											
TPTE	7179	broad.mit.edu	37	chr21	10951271	10951271	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataatcaaacttacctttcTacaaatactcgaagaagaac	19	10	3	9	1	2	2	1	0	1	2	3	3	2	2	1	0	5	0	1	0	10	5			TCGA-06-0130-01A-01D-1490-08	TCGA-06-0130-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c09f0ebd-d604-49a3-9738-0c65fd47fbf9	86e74392-3823-43f8-b803-bf8757390521	g.chr21:10951271T>A	uc002yip.1	-	9	809	c.441A>T	c.(439-441)gtA>gtT	p.V147V	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.V129V|TPTE_uc002yir.1_Silent_p.V109V|TPTE_uc010gkv.1_Silent_p.V9V	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	147					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTACCTTTCTACAAATACTC	0.358													A	10951271	T	A	10951271	2	1	15	1	0	0	0	0	0	0	0	1	16531	1509	53	5		5	TPTE	21	10951271	Silent	SNP	T	TCGA-06-0130-01A-01D-1490-08		10951271	37178624	34	1029											
RNF207	388591	broad.mit.edu	37	chr1	6271141	6271141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccactgctgctgctggggCcacgtcgggtggcagctgct	4	8	16	13	2	0	0	0	0	0	0	1	0	0	0	2	4	6	6	2	4	0	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:6271141C>T	uc001amg.3	+	11	1246	c.1072C>T	c.(1072-1074)Cca>Tca	p.P358S	RNF207_uc010nzp.1_Non-coding_Transcript	NM_207396	NP_997279	Q6ZRF8	RN207_HUMAN	Homo sapiens ring finger protein 207 (RNF207), mRNA.	358						intracellular	zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(2)	16	Ovarian(185;0.0634)	all_cancers(23;1.22e-38)|all_epithelial(116;4.25e-22)|all_lung(118;7.95e-08)|Lung NSC(185;1.6e-06)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;4.84e-38)|GBM - Glioblastoma multiforme(13;5.77e-32)|OV - Ovarian serous cystadenocarcinoma(86;2.88e-19)|Colorectal(212;6.9e-08)|COAD - Colon adenocarcinoma(227;8.13e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.00311)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCTGCTGGGGCCACGTCGGGT	0.667													T	6271141	C	T	6271141	3	4	16	1	0	0	0	0	1	0	0	0	13565	739	26	2	1114	2	RNF207	1	6271141	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		6271141	242979480	1	1030											
CAMTA1	23261	broad.mit.edu	37	chr1	7723936	7723936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggccacaagttcgcCtttcccaccacgggcagctc	7	9	9	16	2	1	1	0	1	1	0	4	1	2	1	4	2	1	3	4	2	1	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723936C>T	uc001aoi.3	+	8	1536	c.1329C>T	c.(1327-1329)gcC>gcT	p.A443A		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	443					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		ACAAGTTCGCCTTTCCCACCA	0.652			T	WWTR1	epitheliod hemangioendothelioma								T	7723936	C	T	7723936	2	4	16	1	0	0	0	0	0	0	0	1	2639	668	24	2		2	CAMTA1	1	7723936	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	1452795	7723936	241526685	2	1031			1	4		2	2	62	C		7.29055e-05
CAMTA1	23261	broad.mit.edu	37	chr1	7723997	7723997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaacgtgtccgaagagCtggtcctctccaccaccctc	8	7	7	19	2	1	1	0	0	1	1	5	2	3	1	7	1	2	1	7	1	2	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:7723997C>T	uc001aoi.3	+	8	1597	c.1390C>T	c.(1390-1392)Ctg>Ttg	p.L464L		NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GTCCGAAGAGCTGGTCCTCTC	0.597			T	WWTR1	epitheliod hemangioendothelioma								T	7723997	C	T	7723997	2	4	16	1	0	0	0	0	0	0	0	1	2639	796	28	2		2	CAMTA1	1	7723997	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	61	7723997	241526624	3	1032			1	4		2	2	62	C		7.29055e-05
FHL3	2275	broad.mit.edu	37	chr1	38463709	38463709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagtgagcacccttgtcggGcacaaaagaacgggagccca	12	5	13	11	2	0	2	0	1	0	1	1	3	0	3	2	2	3	3	2	2	4	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:38463709G>A	uc001cck.3	-	3	606	c.427C>T	c.(427-429)Ccc>Tcc	p.P143S	FHL3_uc001ccm.3_Missense_Mutation_p.P35S|FHL3_uc009vvl.2_Missense_Mutation_p.P143S	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	143	LIM zinc-binding 2.				muscle organ development		zinc ion binding	p.P143S(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CCCTTGTCGGGCACAAAAGAA	0.622													A	38463709	G	A	38463709	3	1	16	1	0	0	0	0	1	0	0	0	5929	1203	42	2	427	2	FHL3	1	38463709	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	30739712	38463709	210786912	4	1033											
PSMA5	5686	broad.mit.edu	37	chr1	109964523	109964523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacttgaaataatcttcCttcgggagaaaaagtattca	14	13	6	8	1	2	2	1	1	1	1	5	3	4	2	2	1	0	1	2	1	5	7			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:109964523C>T	uc001dxn.3	-	1	173	c.55G>A	c.(55-57)Gga>Aga	p.G19R	PSMA5_uc010ovj.2_Intron|PSMA5_uc021ord.1_5'UTR|PSMA5_uc021ore.1_5'UTR	NM_002790	NP_001186703	P28066	PSA5_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 5 (PSMA5), transcript variant 1, mRNA.	19					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)	5		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.045)|Colorectal(144;0.116)|Epithelial(280;0.187)|all cancers(265;0.196)|LUSC - Lung squamous cell carcinoma(189;0.235)		AATAATCTTCCTTCGGGAGAA	0.348													T	109964523	C	T	109964523	3	4	16	1	0	0	0	0	1	0	0	0	12755	690	24	2	702	2	PSMA5	1	109964523	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	71500814	109964523	139286098	5	1034											
SPAG17	200162	broad.mit.edu	37	chr1	118640437	118640437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaagttttaagctctttTatggcattttctttcttcaa	10	19	5	7	0	4	1	1	0	3	1	4	1	4	1	0	1	1	3	0	1	4	8			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:118640437T>C	uc001ehk.2	-	6	935	c.867A>G	c.(865-867)atA>atG	p.I289M		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	289						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TAAGCTCTTTTATGGCATTTT	0.333													C	118640437	T	C	118640437	3	2	16	1	0	0	0	0	1	0	0	0	15075	1744	61	3	5972	3	SPAG17	1	118640437	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	8675914	118640437	130610184	6	1035											
FCRLA	84824	broad.mit.edu	37	chr1	161682911	161682911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctcccacattgaatcCagctcctcagaaatcagctg	11	9	6	15	0	2	2	2	1	0	1	5	2	5	2	4	0	3	3	4	0	2	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:161682911C>T	uc001gbe.3	+	5	1132	c.890C>T	c.(889-891)cCa>cTa	p.P297L	FCRLA_uc001gbg.3_Missense_Mutation_p.P151L|FCRLA_uc009wup.3_Missense_Mutation_p.P107L|FCRLA_uc009wuq.3_Missense_Mutation_p.P56L|FCRLA_uc001gbd.3_Missense_Mutation_p.P291L|FCRLA_uc001gbf.3_Missense_Mutation_p.P202L|FCRLA_uc009wuo.3_Missense_Mutation_p.P157L	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	274	Pro-rich.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			ACATTGAATCCAGCTCCTCAG	0.582													T	161682911	C	T	161682911	3	4	16	1	0	0	0	0	1	0	0	0	5849	594	21	2	912	2	FCRLA	1	161682911	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	43042474	161682911	87567710	7	1036											
CACNA1S	779	broad.mit.edu	37	chr1	201012596	201012596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctctgattggccatgaCggggggcagggagttggtcc	5	9	19	8	1	1	2	0	2	1	0	3	3	2	3	2	7	0	2	2	7	0	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr1:201012596C>T	uc001gvv.3	-	39	5088	c.4861G>A	c.(4861-4863)Gtc>Atc	p.V1621I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1621					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	TTGGCCATGACGGGGGGCAGG	0.567											OREG0014067	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	201012596	C	T	201012596	3	4	16	1	0	0	0	0	1	0	0	0	2573	536	19	1	780	1	CACNA1S	1	201012596	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	39329685	201012596	48238025	8	1037											
YIPF4	84272	broad.mit.edu	37	chr2	32530586	32530586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttgggctgcctacaGtgctgcttcattgttagtgg	4	17	13	7	0	1	0	1	0	0	0	1	0	1	0	1	2	4	5	1	2	2	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:32530586G>A	uc002rok.3	+	5	893	c.626G>A	c.(625-627)aGt>aAt	p.S209N		NM_032312	NP_115688	Q9BSR8	YIPF4_HUMAN	Homo sapiens Yip1 domain family, member 4 (YIPF4), mRNA.	209						endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					GCTGCCTACAGTGCTGCTTCA	0.323													A	32530586	G	A	32530586	3	1	16	1	0	0	0	0	1	0	0	0	17582	1029	36	2	648	2	YIPF4	2	32530586	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08		32530586	210668787	9	1038											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315741	73315741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctcccattgacacagagCgaagagcgggaggcagcatc	11	5	14	11	2	0	3	0	1	0	2	2	5	1	4	1	3	3	3	1	3	1	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:73315741C>T	uc002siu.4	-	2	1246	c.1005G>A	c.(1003-1005)tcG>tcA	p.S335S	RAB11FIP5_uc002sit.4_Silent_p.S257S	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	335					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.S334F(1)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TGACACAGAGCGAAGAGCGGG	0.622													T	73315741	C	T	73315741	2	4	16	1	0	0	0	0	0	0	0	1	12985	755	27	1		1	RAB11FIP5	2	73315741	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	40785155	73315741	169883632	10	1039											
LCT	3938	broad.mit.edu	37	chr2	136566075	136566075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcagtatcctccgtgttcGgattggtcagccccactccg	6	12	9	14	3	2	0	2	0	0	0	6	1	5	1	5	2	1	2	5	2	2	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:136566075G>A	uc002tuu.1	-	7	3853	c.3842C>T	c.(3841-3843)cCg>cTg	p.P1281L		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1281	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTCCGTGTTCGGATTGGTCAG	0.493													A	136566075	G	A	136566075	3	1	16	1	0	0	0	0	1	0	0	0	8752	1116	39	1	1981	1	LCT	2	136566075	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	63250334	136566075	106633298	11	1040											
MBD5	55777	broad.mit.edu	37	chr2	149248058	149248058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggacgttcaatgttggCgacttggtctggggccaaat	9	10	13	9	2	2	0	1	0	1	0	2	2	2	1	2	5	0	2	2	5	3	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:149248058C>T	uc002twm.4	+	11	5155	c.4158C>T	c.(4156-4158)ggC>ggT	p.G1386G	MBD5_uc010zbs.2_Intron|MBD5_uc002two.3_Silent_p.G644G|MBD5_uc002twp.3_Silent_p.G436G	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	1386	PWWP.					chromosome|nucleus	chromatin binding|DNA binding	p.G1386G(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		TCAATGTTGGCGACTTGGTCT	0.448													T	149248058	C	T	149248058	2	4	16	1	0	0	0	0	0	0	0	1	9422	755	27	1		1	MBD5	2	149248058	Silent	SNP	C	TCGA-06-0132-01A-02D-1491-08	12681983	149248058	93951315	12	1041											
SCN3A	6328	broad.mit.edu	37	chr2	166019113	166019113	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatgtgctcattgttacaTtaacaaatgtcccatttgaa	14	15	5	7	0	1	1	1	1	0	0	2	1	2	1	1	0	3	2	1	0	6	5			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:166019113T>A	uc002ucx.3	-	7	1412	c.920A>T	c.(919-921)aAt>aTt	p.N307I	SCN3A_uc002ucy.3_Missense_Mutation_p.N307I|SCN3A_uc002ucz.3_Missense_Mutation_p.N307I|SCN3A_uc002uda.1_Missense_Mutation_p.N176I|SCN3A_uc002udb.1_Missense_Mutation_p.N176I	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	307						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CATTGTTACATTAACAAATGT	0.363													A	166019113	T	A	166019113	3	1	16	1	0	0	0	0	1	0	0	0	14011	1493	52	5	5166	5	SCN3A	2	166019113	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	16771055	166019113	77180260	13	1042											
SCN9A	6335	broad.mit.edu	37	chr2	167055670	167055670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accactaaccatgggcagatCcatggcaatgagctggactt	12	8	10	11	0	0	2	0	1	0	1	1	3	1	3	3	3	2	3	3	3	2	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:167055670C>A	uc010fpl.3	-	26	5787	c.5446G>T	c.(5446-5448)Gat>Tat	p.D1816Y	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1827						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATGGGCAGATCCATGGCAATG	0.463													A	167055670	C	A	167055670	3	1	16	1	0	0	0	0	1	0	0	0	14018	855	30	4	491	4	SCN9A	2	167055670	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	1036557	167055670	76143703	14	1043											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693302	187693302	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaggtaaaattccaagTctattttgttttaagactaa	14	16	6	5	0	1	1	0	0	1	1	2	1	2	1	1	1	1	3	1	1	7	9			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:187693302T>C	uc002upu.1	-	8	1351	c.1311A>G	c.(1309-1311)agA>agG	p.R437R		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	437					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AAATTCCAAGTCTATTTTGTT	0.328													C	187693302	T	C	187693302	2	2	16	1	0	0	0	0	0	0	0	1	18338	1664	58	3		3	ZSWIM2	2	187693302	Silent	SNP	T	TCGA-06-0132-01A-02D-1491-08	20637632	187693302	55506071	15	1044											
ANO7	50636	broad.mit.edu	37	chr2	242151595	242151595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttctactcctcacccGtctacattgccttcttcaag	8	14	3	16	1	6	0	3	0	3	0	7	0	7	0	3	0	4	0	3	0	4	6	rs111600763	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr2:242151595G>A	uc002wax.2	+	15	1913	c.1810G>A	c.(1810-1812)Gtc>Atc	p.V604I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	604						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CTCCTCACCCGTCTACATTGC	0.562													A	242151595	G	A	242151595	3	1	16	1	0	0	0	0	1	0	0	0	702	1145	40	1	1944	1	ANO7	2	242151595	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	54458293	242151595	1047778	16	1045											
CHL1	10752	broad.mit.edu	37	chr3	383663	383663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctatacttcgcaaacGtggaagaaaaggacagtcgc	15	7	11	8	3	1	2	0	0	1	2	3	5	1	4	0	2	2	1	0	2	6	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:383663G>A	uc003bot.3	+	6	1219	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	CHL1_uc003bou.3_Missense_Mutation_p.V193M|CHL1_uc003bow.2_Missense_Mutation_p.V193M|CHL1_uc011asi.2_Missense_Mutation_p.V193M	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	193	Ig-like C2-type 2.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CTTCGCAAACGTGGAAGAAAA	0.383													A	383663	G	A	383663	3	1	16	1	0	0	0	0	1	0	0	0	3379	1145	40	1	595	1	CHL1	3	383663	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08		383663	197638767	17	1046											
ZBTB20	26137	broad.mit.edu	37	chr3	114069362	114069362	+	Frame_Shift_Del	DEL	G	G	-																															aggctgaagaggaaaggcttGgggccactgcccgcgggctg																										TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr3:114069362delG	uc003ebi.3	-	3	1743	c.1563delC	c.(1561-1563)cccfs	p.P521fs	ZBTB20_uc003ebj.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc010hqp.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebk.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebl.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebm.3_Frame_Shift_Del_p.P448fs|ZBTB20_uc003ebn.3_Frame_Shift_Del_p.P448fs|ZBTB20-AS1_uc003ebo.2_5'Flank	NM_001164342	NP_056457	Q9HC78	ZBT20_HUMAN	Homo sapiens zinc finger and BTB domain containing 20 (ZBTB20), transcript variant 1, mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAAAGGCTTGGGGCCACTGC	0.627													-	114069362	G	-	114069362	7	5	16	1	0	1	0	1	0	0	0	0	17630	1335	47	0	670	0	ZBTB20	3	114069362	Frame_Shift_Del	DEL	G	TCGA-06-0132-01A-02D-1491-08	113685699	114069362	83953068	18	1047											
SPOCK3	50859	broad.mit.edu	37	chr4	167656159	167656159	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcatcttcatcattcatAatatcgtcttcatcatcctc	10	18	1	12	1	8	0	6	0	2	0	11	0	9	0	1	0	0	0	1	0	2	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr4:167656159A>G	uc011cjq.1	-	9	1308	c.1251T>C	c.(1249-1251)atT>atC	p.I417I	SPOCK3_uc021xuf.1_Silent_p.I408I|SPOCK3_uc011cjr.1_Silent_p.I288I|SPOCK3_uc003iri.1_Silent_p.I408I|SPOCK3_uc011cjs.1_Silent_p.I357I|SPOCK3_uc003irj.1_Silent_p.I405I|SPOCK3_uc011cjt.1_Silent_p.I316I|SPOCK3_uc011cjp.2_Silent_p.I365I|SPOCK3_uc011cju.1_Silent_p.I312I|SPOCK3_uc011cjv.1_Silent_p.I310I	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	408	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		catcattcataatatcgtctt	0.363													G	167656159	A	G	167656159	2	3	16	1	0	0	0	0	0	0	0	1	15177	358	13	3		3	SPOCK3	4	167656159	Silent	SNP	A	TCGA-06-0132-01A-02D-1491-08		167656159	23498117	19	1048											
FSTL4	23105	broad.mit.edu	37	chr5	132556518	132556518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggatgacgatgataccGtcgtcggagaagacatagaa	14	7	14	6	4	0	5	0	2	0	3	2	9	0	7	1	3	1	0	1	3	4	2	rs141735817	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:132556518G>A	uc003kyn.1	-	11	1598	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	FSTL4_uc003kym.1_Silent_p.D109D	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	460						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATGATACCGTCGTCGGAGA	0.547													A	132556518	G	A	132556518	2	1	16	1	0	0	0	0	0	0	0	1	6131	1136	40	1		1	FSTL4	5	132556518	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		132556518	48358742	20	1049											
PCDHAC2	9752	broad.mit.edu	37	chr5	140229589	140229589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcggttgggcgagcgctcGctgtcgagctacgtgtcagt	4	9	17	11	7	1	0	1	0	0	0	3	2	1	0	0	3	3	4	0	3	1	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr5:140229589G>A	uc003lhu.2	+	0	2233	c.1509G>A	c.(1507-1509)tcG>tcA	p.S503S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S503S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S503S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAGCGCTCGCTGTCGAGCT	0.672													A	140229589	G	A	140229589	2	1	16	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140229589	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08	7673071	140229589	40685671	21	1050											
LAMB1	3912	broad.mit.edu	37	chr7	107591684	107591684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcacctcggcactccacGtcggggtctccccagaagag	9	6	10	16	3	2	2	1	0	1	2	6	2	3	2	4	3	1	1	4	3	2	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr7:107591684G>A	uc003vev.2	-	21	3611	c.3450C>T	c.(3448-3450)gaC>gaT	p.D1150D	LAMB1_uc003vew.2_Silent_p.D1126D	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1126	Laminin EGF-like 13.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCACTCCACGTCGGGGTCTC	0.572													A	107591684	G	A	107591684	2	1	16	1	0	0	0	0	0	0	0	1	8669	1136	40	1		1	LAMB1	7	107591684	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		107591684	51546979	22	1051											
SGK223	157285	broad.mit.edu	37	chr8	8175745	8175745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagacgccaggtactggcaGcaaagccagtcctccagctc	10	5	11	15	1	0	1	0	0	0	1	3	1	2	1	4	2	4	5	4	2	2	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr8:8175745G>A	uc003wsh.4	-	4	4140	c.4140C>T	c.(4138-4140)tgC>tgT	p.C1380C		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	1380							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGTACTGGCAGCAAAGCCAGT	0.642													A	8175745	G	A	8175745	2	1	16	1	0	0	0	0	0	0	0	1	14303	963	34	2		2	SGK223	8	8175745	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		8175745	138188277	23	1052											
PIP5K1B	8395	broad.mit.edu	37	chr9	71555697	71555697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacgacaggcctacactctAttcaaacaggtaatacttag	15	9	6	11	1	2	0	1	0	1	0	2	1	2	0	1	2	3	1	1	2	6	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:71555697A>C	uc004agu.3	+	13	1798	c.1493A>C	c.(1492-1494)tAt>tCt	p.Y498S	PIP5K1B_uc011lrq.2_Missense_Mutation_p.Y498S|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	498						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CCTACACTCTATTCAAACAGG	0.443													C	71555697	A	C	71555697	3	2	16	1	0	0	0	0	1	0	0	0	12017	449	16	5	1535	5	PIP5K1B	9	71555697	Missense_Mutation	SNP	A	TCGA-06-0132-01A-02D-1491-08		71555697	69657734	24	1053											
SUSD1	64420	broad.mit.edu	37	chr9	114840947	114840947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggctgctgctactgatatTaaaggtcatttcctgggcaa	9	13	10	9	1	1	1	1	1	0	0	3	1	2	1	1	3	3	4	1	3	5	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr9:114840947T>C	uc010mui.3	-	11	1665	c.1624A>G	c.(1624-1626)Aat>Gat	p.N542D	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.N542D|SUSD1_uc010muj.3_Missense_Mutation_p.N542D			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	542						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						CTACTGATATTAAAGGTCATT	0.488													C	114840947	T	C	114840947	3	2	16	1	0	0	0	0	1	0	0	0	15503	1754	61	3	643	3	SUSD1	9	114840947	Missense_Mutation	SNP	T	TCGA-06-0132-01A-02D-1491-08	43285250	114840947	26372484	25	1054											
ABCG4	64137	broad.mit.edu	37	chr11	119031668	119031668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttagaggaacgctgccCgttccgggagccacagagca	10	7	13	11	3	0	2	0	0	0	2	1	4	1	4	3	2	4	4	3	2	2	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr11:119031668C>T	uc001pvs.3	+	14	2129	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	ABCG4_uc009zar.3_Missense_Mutation_p.P598L	NM_022169	NP_071452	Q9H172	ABCG4_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 4 (ABCG4), transcript variant 1, mRNA.	598	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GAACGCTGCCCGTTCCGGGAG	0.567													T	119031668	C	T	119031668	3	4	16	1	0	0	0	0	1	0	0	0	70	652	23	1	1847	1	ABCG4	11	119031668	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		119031668	15974848	26	1055											
TSPAN9	10867	broad.mit.edu	37	chr12	3387673	3387673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcccccagcttcccttcGttgtctgcagccaacctggt	4	13	7	17	1	2	0	0	0	2	0	5	0	3	0	5	1	4	3	5	1	1	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:3387673G>A	uc001qlp.3	+	3	333	c.150G>A	c.(148-150)tcG>tcA	p.S50S	TSPAN9_uc021qtd.1_Silent_p.S50S	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	50						integral to plasma membrane|membrane fraction		p.P49H(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GCTTCCCTTCGTTGTCTGCAG	0.597													A	3387673	G	A	3387673	2	1	16	1	0	0	0	0	0	0	0	1	16755	1132	40	1		1	TSPAN9	12	3387673	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		3387673	130464222	27	1056											
OR9K2	441639	broad.mit.edu	37	chr12	55524385	55524385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agttgtgagtgtgctgtatgGtgctgtcttttttatgtatc	5	20	12	4	0	1	1	0	1	1	0	2	1	1	1	0	1	2	5	0	1	3	6			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:55524385G>A	uc010spe.2	+	0	833	c.833G>A	c.(832-834)gGt>gAt	p.G278D		NM_001005243	NP_001005243	Q8NGE7	OR9K2_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily K, member 2 (OR9K2), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						GTGCTGTATGGTGCTGTCTTT	0.443													A	55524385	G	A	55524385	3	1	16	1	0	0	0	0	1	0	0	0	11330	1261	44	2	835	2	OR9K2	12	55524385	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	52136712	55524385	78327510	28	1057											
APOF	319	broad.mit.edu	37	chr12	56755194	56755194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggctgagagatgtttgCgtctttctgatcttggtaat	6	16	11	8	2	3	3	0	2	3	1	4	4	4	3	1	2	1	3	1	2	1	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:56755194C>T	uc001sle.1	-	1	850	c.796G>A	c.(796-798)Gca>Aca	p.A266T		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	266					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GAGATGTTTGCGTCTTTCTGA	0.493													T	56755194	C	T	56755194	3	4	16	1	0	0	0	0	1	0	0	0	806	768	27	1	188	1	APOF	12	56755194	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	1230809	56755194	77096701	29	1058											
FOXN4	121643	broad.mit.edu	37	chr12	109719238	109719238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgaagtccatgatgctcGggtcgagggcatccacctca	9	7	13	12	3	1	1	1	1	0	0	5	4	3	1	3	2	2	2	3	2	1	0			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr12:109719238G>A	uc001toe.4	-	8	1373	c.1268C>T	c.(1267-1269)cCg>cTg	p.P423L	FOXN4_uc009zvg.3_Missense_Mutation_p.P220L|FOXN4_uc001tof.4_Missense_Mutation_p.P243L	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	423					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CATGATGCTCGGGTCGAGGGC	0.627													A	109719238	G	A	109719238	3	1	16	1	0	0	0	0	1	0	0	0	6073	1116	39	1	293	1	FOXN4	12	109719238	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	52964044	109719238	24132657	30	1059											
SERPINA12	145264	broad.mit.edu	37	chr14	94953819	94953819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcatccatcttcagctcagCcttgtgcacagcctacggaa	9	10	7	15	1	4	0	3	0	1	0	5	1	5	1	3	1	5	2	3	1	2	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr14:94953819C>T	uc001ydj.3	-	5	1862	c.1066G>A	c.(1066-1068)Gct>Act	p.A356T		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	356					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		TTCAGCTCAGCCTTGTGCACA	0.597													T	94953819	C	T	94953819	3	4	16	1	0	0	0	0	1	0	0	0	14182	739	26	2	182	2	SERPINA12	14	94953819	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		94953819	12395721	31	1060											
PEPD	5184	broad.mit.edu	37	chr19	33892682	33892682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcactgcctcatagacGgccttctggtctgcagtgaa	8	9	11	13	2	3	2	1	1	2	1	3	2	3	2	2	2	3	3	2	2	2	2			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:33892682G>A	uc002nur.4	-	11	1045	c.912C>T	c.(910-912)gcC>gcT	p.A304A	PEPD_uc010xrs.2_Silent_p.A240A|PEPD_uc010xrr.2_Silent_p.A263A	NM_000285	NP_000276	P12955	PEPD_HUMAN	Homo sapiens peptidase D (PEPD), transcript variant 1, mRNA.	304					cellular amino acid metabolic process|collagen catabolic process|proteolysis		aminopeptidase activity|dipeptidase activity|manganese ion binding|metallocarboxypeptidase activity			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	17	Esophageal squamous(110;0.137)					CCTCATAGACGGCCTTCTGGT	0.627													A	33892682	G	A	33892682	2	1	16	1	0	0	0	0	0	0	0	1	11804	1103	39	1		1	PEPD	19	33892682	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		33892682	25236301	32	1061											
NLRP12	91662	broad.mit.edu	37	chr19	54313742	54313742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggctcgttgtccctcaCgtaattgaagacttggcccg	8	10	12	11	3	1	3	1	1	0	2	3	4	2	3	2	2	0	3	2	2	2	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr19:54313742C>T	uc002qcj.4	-	2	1391	c.1171G>A	c.(1171-1173)Gtg>Atg	p.V391M	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.V391M|NLRP12_uc002qci.4_Missense_Mutation_p.V391M|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.V391M	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	391	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTGTCCCTCACGTAATTGAAG	0.562													T	54313742	C	T	54313742	3	4	16	1	0	0	0	0	1	0	0	0	10550	536	19	1	2142	1	NLRP12	19	54313742	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	20421060	54313742	4815241	33	1062											
SLC5A4	6527	broad.mit.edu	37	chr22	32627012	32627012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtagttggtgcagccaacatCaacgccacagtgtttcacgc	10	9	10	12	2	2	0	2	0	0	0	2	0	2	0	2	1	4	4	2	1	3	3			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chr22:32627012C>G	uc003ami.3	-	9	1074	c.1072G>C	c.(1072-1074)Gat>Cat	p.D358H		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	358					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCCAACATCAACGCCACAG	0.522													G	32627012	C	G	32627012	3	3	16	1	0	0	0	0	1	0	0	0	14761	826	29	4	931	4	SLC5A4	22	32627012	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08		32627012	18677554	34	1063											
CXorf59	286464	broad.mit.edu	37	chrX	36103467	36103467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctactcatcaacctcGccaccccaaaagttttccag	12	10	3	16	1	3	0	2	0	1	0	5	0	4	0	5	0	2	1	5	0	5	4			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:36103467G>A	uc004ddk.1	+	4	639	c.453G>A	c.(451-453)tcG>tcA	p.S151S		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	151						integral to membrane		p.S151S(2)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CATCAACCTCGCCACCCCAAA	0.333													A	36103467	G	A	36103467	2	1	16	1	0	0	0	0	0	0	0	1	4148	1074	38	1		1	CXorf59	23	36103467	Silent	SNP	G	TCGA-06-0132-01A-02D-1491-08		36103467	119167093	35	1064											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299499	125299499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccggcctccttgtcccGcatgagggggatgcgcgtga	5	7	15	14	4	0	2	0	2	0	0	2	3	2	3	4	3	2	1	4	3	0	1			TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:125299499G>A	uc004euk.2	-	0	582	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	137										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCCTTGTCCCGCATGAGGGGG	0.642													A	125299499	G	A	125299499	3	1	16	1	0	0	0	0	1	0	0	0	4299	1086	38	1	986	1	DCAF12L2	23	125299499	Missense_Mutation	SNP	G	TCGA-06-0132-01A-02D-1491-08	89196032	125299499	29971061	36	1065											
OR13H1	347468	broad.mit.edu	37	chrX	130678349	130678349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccgatgtttggctcaaaCgagtgtctccttggctttgg	5	14	11	11	2	2	0	1	0	1	0	4	2	3	0	3	3	1	3	3	3	1	3	rs149527425	byFrequency	TCGA-06-0132-01A-02D-1491-08	TCGA-06-0132-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c2e159-5774-499f-b0d1-e04fa3faf5c3	740f8d17-3563-4a13-8089-509a5989c33d	g.chrX:130678349C>T	uc011muw.2	+	0	302	c.302C>T	c.(301-303)aCg>aTg	p.T101M	IGSF1_uc004ewf.2_Intron	NM_001004486	NP_001004486	Q8NG92	O13H1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily H, member 1 (OR13H1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15	Acute lymphoblastic leukemia(192;0.000636)					TTGGCTCAAACGAGTGTCTCC	0.517													T	130678349	C	T	130678349	3	4	16	1	0	0	0	0	1	0	0	0	11019	536	19	1	304	1	OR13H1	23	130678349	Missense_Mutation	SNP	C	TCGA-06-0132-01A-02D-1491-08	5378850	130678349	24592211	37	1066											
RPS6KA1	6195	broad.mit.edu	37	chr1	26885365	26885365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagcttcgtggccacCggcctgatggaagacgacgg	7	7	15	12	4	1	2	1	1	0	1	2	4	1	3	3	5	1	2	3	5	1	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:26885365C>T	uc001bmr.1	+	13	1315	c.1152C>T	c.(1150-1152)acC>acT	p.T384T	RPS6KA1_uc010ofe.1_Silent_p.T292T|RPS6KA1_uc010off.1_Silent_p.T368T|RPS6KA1_uc001bms.1_Silent_p.T393T|RPS6KA1_uc009vsl.1_Silent_p.T227T	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	384	AGC-kinase C-terminal.				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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		TCGTGGCCACCGGCCTGATGG	0.647													T	26885365	C	T	26885365	2	4	17	1	0	0	0	0	0	0	0	1	13741	639	23	1		1	RPS6KA1	1	26885365	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		26885365	222365256	1	1067											
MACF1	23499	broad.mit.edu	37	chr1	39549978	39549978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgatcttacaggagcgagCggtcggggagcctgtctccc	7	7	15	12	4	2	0	0	0	2	0	4	4	2	2	2	4	5	0	2	4	1	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:39549978C>T	uc010oir.2	+	1	267	c.75C>T	c.(73-75)agC>agT	p.S25S	MACF1_uc021ols.1_Missense_Mutation_p.R30W|MACF1_uc001cdc.2_Missense_Mutation_p.R30W|MACF1_uc021olt.1_Missense_Mutation_p.R30W			Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	0	Actin-binding.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.I25V(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGGAGCGAGCGGTCGGGGAG	0.612													T	39549978	C	T	39549978	3	4	17	1	0	0	0	0	1	0	0	0	9215	759	27	1	90	1	MACF1	1	39549978	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12664613	39549978	209700643	2	1068											
PDE4DIP	9659	broad.mit.edu	37	chr1	144873981	144873981	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagatgcactggttgatGatggtttagaagacaacaca	13	10	11	7	0	0	5	0	3	0	3	0	6	0	5	1	2	2	3	1	2	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:144873981G>T	uc021ouh.1	-	30	5278	c.4976C>A	c.(4975-4977)tCa>tAa	p.S1659*	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Nonsense_Mutation_p.S1659*|PDE4DIP_uc001elx.4_Nonsense_Mutation_p.S1615*|PDE4DIP_uc001elv.4_Nonsense_Mutation_p.S666*	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1659					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		ACTGGTTGATGATGGTTTAGA	0.473			T	PDGFRB	MPD								T	144873981	G	T	144873981	4	4	17	1	0	0	0	0	0	1	0	0	11719	1294	45	4	2120	4	PDE4DIP	1	144873981	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	105324003	144873981	104376640	3	1069											
MTMR11	10903	broad.mit.edu	37	chr1	149901596	149901596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggcagcagcagcccTggaggtaaagggcaagctcc	11	4	13	13	0	0	0	0	0	0	0	1	1	1	1	3	4	5	6	3	4	4	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:149901596T>C	uc001etl.4	-	15	2111	c.1860A>G	c.(1858-1860)ccA>ccG	p.P620P	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Silent_p.P548P	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	620	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GCAGCAGCCCTGGAGGTAAAG	0.587													C	149901596	T	C	149901596	2	2	17	1	0	0	0	0	0	0	0	1	10016	1567	55	3		3	MTMR11	1	149901596	Silent	SNP	T	TCGA-06-0137-01A-01D-1490-08	5027615	149901596	99349025	4	1070											
NTRK1	4914	broad.mit.edu	37	chr1	156836717	156836717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaatctctccttcaaCgctctggagtctctctcctg	6	12	8	15	2	5	0	1	0	4	0	9	2	6	2	2	2	1	2	2	2	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:156836717C>T	uc001fqh.1	+	3	431	c.375C>T	c.(373-375)aaC>aaT	p.N125N	NTRK1_uc001fqf.1_Silent_p.N95N|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.N125N|NTRK1_uc009wsk.1_Silent_p.N125N	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	125					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCTCCTTCAACGCTCTGGAGT	0.587			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			T	156836717	C	T	156836717	2	4	17	1	0	0	0	0	0	0	0	1	10782	535	19	1		1	NTRK1	1	156836717	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	6935121	156836717	92413904	5	1071											
FCRL2	79368	broad.mit.edu	37	chr1	157739709	157739709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgatcctgtgagtcaccGtttctgccttgcaccagtaa	7	14	8	12	1	3	2	1	2	2	0	4	2	4	2	4	0	2	3	4	0	1	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:157739709G>A	uc001fre.2	-	3	601	c.542C>T	c.(541-543)aCg>aTg	p.T181M	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Missense_Mutation_p.T181M|FCRL2_uc009wsp.2_Intron|FCRL2_uc010pia.1_Missense_Mutation_p.T181M	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	181	Ig-like C2-type 2.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GTGAGTCACCGTTTCTGCCTT	0.527													A	157739709	G	A	157739709	3	1	17	1	0	0	0	0	1	0	0	0	5844	1145	40	1	1020	1	FCRL2	1	157739709	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	902992	157739709	91510912	6	1072											
FCAMR	83953	broad.mit.edu	37	chr1	207135779	207135779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcttgggggccccagaCggcaccagtacttcctctgg	6	9	11	15	1	2	1	0	0	2	1	4	1	4	1	5	4	1	2	5	4	1	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:207135779C>T	uc001hfa.4	-	4	931	c.431G>A	c.(430-432)cGt>cAt	p.R144H	FCAMR_uc001hfb.3_Missense_Mutation_p.R144H|FCAMR_uc009xca.2_Missense_Mutation_p.R144H|FCAMR_uc021pig.1_Missense_Mutation_p.R59H	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	99	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						GGGCCCCAGACGGCACCAGTA	0.582													T	207135779	C	T	207135779	3	4	17	1	0	0	0	0	1	0	0	0	5821	536	19	1	1318	1	FCAMR	1	207135779	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	49396070	207135779	42114842	7	1073											
PCNXL2	80003	broad.mit.edu	37	chr1	233231513	233231513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggatacgaggaatggcaaAgagctgagcaaacacgtgaa	18	4	13	6	2	0	3	0	2	0	1	0	6	0	5	0	3	4	3	0	3	6	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:233231513A>G	uc001hvl.2	-	21	4169	c.3934T>C	c.(3934-3936)Ttt>Ctt	p.F1312L	PCNXL2_uc001hvm.1_Non-coding_Transcript|PCNXL2_uc009xfu.3_Intron|PCNXL2_uc001hvp.1_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	1312						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGAATGGCAAAGAGCTGAGCA	0.473													G	233231513	A	G	233231513	3	3	17	1	0	0	0	0	1	0	0	0	11668	72	3	3	2531	3	PCNXL2	1	233231513	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08	26095734	233231513	16019108	8	1074											
C1orf100	200159	broad.mit.edu	37	chr1	244528021	244528021	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgactgccatccgactaCgagaatttattgagcgtcgc	10	11	9	11	4	1	3	1	2	0	1	3	5	2	3	2	0	3	0	2	0	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:244528021C>T	uc001iah.3	+	1	132	c.19C>T	c.(19-21)Cga>Tga	p.R7*	C1orf100_uc001iai.3_Nonsense_Mutation_p.R7*	NM_001012970	NP_001012988	Q5SVJ3	CA100_HUMAN	Homo sapiens chromosome 1 open reading frame 100 (C1orf100), mRNA.	7										endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)	7	all_cancers(71;3.94e-05)|all_epithelial(71;0.000138)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|all_lung(81;0.0736)|Ovarian(71;0.0761)|Lung NSC(105;0.103)		all cancers(7;8.19e-08)|GBM - Glioblastoma multiforme(7;2.05e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.000984)			CATCCGACTACGAGAATTTAT	0.468													T	244528021	C	T	244528021	4	4	17	1	0	0	0	0	0	1	0	0	1995	528	19	1	21	1	C1orf100	1	244528021	Nonsense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	11296508	244528021	4722600	9	1075											
OR2T10	127069	broad.mit.edu	37	chr1	248756435	248756435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagacactgaaatgaccGtcacaggtatcaggagcatg	15	7	11	8	1	2	3	2	2	0	1	2	4	2	4	1	2	1	3	1	2	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr1:248756435G>A	uc010pzn.2	-	0	635	c.635C>T	c.(634-636)aCg>aTg	p.T212M		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAATGACCGTCACAGGTAT	0.458													A	248756435	G	A	248756435	3	1	17	1	0	0	0	0	1	0	0	0	11093	1145	40	1	306	1	OR2T10	1	248756435	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	4228414	248756435	494186	10	1076											
ABCG8	64241	broad.mit.edu	37	chr2	44078770	44078770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcactggccgaggtcacGgcggcaagatcaagtcaggc	10	6	14	11	3	4	2	4	1	0	1	4	3	4	2	1	5	0	1	1	5	2	0	rs143276716		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:44078770G>A	uc002rtq.3	+	3	460	c.370G>A	c.(370-372)Ggc>Agc	p.G124S	ABCG8_uc010yoa.2_Missense_Mutation_p.G124S	NM_022437	NP_071882	Q9H221	ABCG8_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 8 (ABCG8), mRNA.	124	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CCGAGGTCACGGCGGCAAGAT	0.617													A	44078770	G	A	44078770	3	1	17	1	0	0	0	0	1	0	0	0	72	1116	39	1	384	1	ABCG8	2	44078770	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		44078770	199120603	11	1077											
CFC1B	653275	broad.mit.edu	37	chr2	131356244	131356244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcccgggagtaggggagcGgctcctccggcccccagccc	6	3	15	17	3	0	0	0	0	0	0	2	2	2	2	6	5	3	2	6	5	2	1	rs139623987		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:131356244G>A	uc002tro.1	-	2	609	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_001079530	NP_115934	P0CG36	CFC1B_HUMAN	Homo sapiens cripto, FRL-1, cryptic family 1B (CFC1B), mRNA.	73					gastrulation	extracellular region						Colorectal(110;0.1)					GTAGGGGAGCGGCTCCTCCGG	0.622													A	131356244	G	A	131356244	3	1	17	1	0	0	0	0	1	0	0	0	3310	1116	39	1	1165	1	CFC1B	2	131356244	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	87277474	131356244	111843129	12	1078											
TTN	7273	broad.mit.edu	37	chr2	179497473	179497473	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttagcctcatctttctcGaagactttaacatcactgag	12	13	5	11	1	4	2	2	1	2	1	5	3	4	2	1	0	3	0	1	0	4	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:179497473G>A	uc021vsy.1	-	183	35781	c.35556C>T	c.(35554-35556)ttC>ttT	p.F11852F	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.F5547F|TTN_uc021vta.1_Silent_p.F5480F|TTN_uc021vtb.1_Silent_p.F5355F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12779	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCTTTCTCGAAGACTTTAA	0.428													A	179497473	G	A	179497473	2	1	17	1	0	0	0	0	0	0	0	1	16837	1049	37	1		1	TTN	2	179497473	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	48141229	179497473	63701900	13	1079											
ITGA4	3676	broad.mit.edu	37	chr2	182358131	182358131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgcagatgggatctcGtcaaccttctcacaggtaag	9	9	12	11	2	3	1	2	0	2	1	5	2	3	2	2	3	2	2	2	3	2	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:182358131G>A	uc002unu.3	+	10	1996	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	411					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGGGATCTCGTCAACCTTCT	0.368													A	182358131	G	A	182358131	2	1	17	1	0	0	0	0	0	0	0	1	7936	1132	40	1		1	ITGA4	2	182358131	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	2860658	182358131	60841242	14	1080											
SERPINE2	5270	broad.mit.edu	37	chr2	224866465	224866465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcccatggggagagatcacGatgttgtcatgaggcctcga	10	9	13	9	2	2	2	2	1	0	1	4	6	3	3	2	3	0	1	2	3	0	1	rs3795875		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:224866465G>A	uc010zlr.1	-	1	326	c.189C>T	c.(187-189)atC>atT	p.I63I	SERPINE2_uc002vnu.2_Silent_p.I51I|SERPINE2_uc002vnv.2_Silent_p.I51I	NM_001136530	NP_001130000	P07093	GDN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 2 (SERPINE2), transcript variant 4, mRNA.	51					negative regulation of blood coagulation|negative regulation of plasminogen activation|negative regulation of platelet aggregation|positive regulation of astrocyte differentiation|regulation of cell migration	cytosol|extracellular matrix|extracellular space|extrinsic to external side of plasma membrane|neuromuscular junction|platelet alpha granule	heparin binding|receptor binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	17		Renal(207;0.025)|all_lung(227;0.0586)|Lung NSC(271;0.0682)|all_hematologic(139;0.0797)		Epithelial(121;5.68e-10)|all cancers(144;1.9e-07)|Lung(261;0.0088)|LUSC - Lung squamous cell carcinoma(224;0.00902)		GAGAGATCACGATGTTGTCAT	0.567													A	224866465	G	A	224866465	2	1	17	1	0	0	0	0	0	0	0	1	14205	1048	37	1		1	SERPINE2	2	224866465	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	42508334	224866465	18332908	15	1081											
B3GNT7	93010	broad.mit.edu	37	chr2	232262645	232262645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatgtggctgcgcccaCgcccatggcctctcaggggc	7	6	14	14	2	1	1	1	0	1	1	2	2	1	1	3	4	1	1	3	4	1	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr2:232262645C>T	uc002vrs.3	+	1	395	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_145236	NP_660279	Q8NFL0	B3GN7_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7 (B3GNT7), mRNA.	72					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GCTGCGCCCACGCCCATGGCC	0.617													T	232262645	C	T	232262645	3	4	17	1	0	0	0	0	1	0	0	0	1267	536	19	1	221	1	B3GNT7	2	232262645	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	7396180	232262645	10936728	16	1082											
SCN5A	6331	broad.mit.edu	37	chr3	38592883	38592883	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgaggaagagcagcagcccGatgttgaagagggcaggcag	13	3	17	8	2	0	3	0	1	0	2	0	6	0	4	1	3	3	5	1	3	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38592883G>A	uc021wvo.1	-	26	5032	c.4980C>T	c.(4978-4980)atC>atT	p.I1660I	SCN5A_uc021wvk.1_Silent_p.I1627I|SCN5A_uc021wvl.1_Silent_p.I1606I|SCN5A_uc021wvm.1_Silent_p.I1642I|SCN5A_uc021wvn.1_Silent_p.I1659I|SCN5A_uc021wvp.1_Silent_p.I1660I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1472I|SCN5A_uc021wvi.1_Silent_p.I1526I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1660			I -> V (in BRS1; detected in a compound heterozygote also carrying L-336; the presence of both mutations is necessary for the phenotypic expression of the disease; complete loss of sodium currents due to defective channel trafficking to the plasma membrane).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.I1660I(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCAGCAGCCCGATGTTGAAGA	0.567													A	38592883	G	A	38592883	2	1	17	1	0	0	0	0	0	0	0	1	14015	1048	37	1		1	SCN5A	3	38592883	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		38592883	159429547	17	1083											
SCN10A	6336	broad.mit.edu	37	chr3	38765036	38765036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagaggagcttgtgtcGtccactccctgcaggggaga	7	8	13	13	1	1	2	1	0	0	2	4	4	3	3	3	3	2	2	3	3	0	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38765036G>A	uc003ciq.3	-	17	3237	c.3237C>T	c.(3235-3237)gaC>gaT	p.D1079D		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1079					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCTTGTGTCGTCCACTCCCT	0.597													A	38765036	G	A	38765036	2	1	17	1	0	0	0	0	0	0	0	1	14005	1136	40	1		1	SCN10A	3	38765036	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	172153	38765036	159257394	18	1084											
SCN10A	6336	broad.mit.edu	37	chr3	38770224	38770224	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcggagatattttttcGgttgttacggtagttttccc	5	16	13	7	4	0	1	0	0	0	1	2	2	1	1	1	4	1	4	1	4	3	9			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:38770224G>A	uc003ciq.3	-	14	2449	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	817					sensory perception	voltage-gated sodium channel complex		p.R817*(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATATTTTTTCGGTTGTTACGG	0.532													A	38770224	G	A	38770224	4	1	17	1	0	0	0	0	0	1	0	0	14005	1124	39	1	3473	1	SCN10A	3	38770224	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5188	38770224	159252206	19	1085											
EPHA6	285220	broad.mit.edu	37	chr3	96706525	96706525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaactcaacactgaaattCgtgaggtggggcctatagaa	14	9	10	8	1	2	3	2	2	0	1	3	3	2	3	1	3	2	0	1	3	6	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:96706525C>T	uc010how.1	+	2	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	EPHA6_uc003drp.1_Missense_Mutation_p.R268C	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	173						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R174C(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						CACTGAAATTCGTGAGGTGGG	0.443													T	96706525	C	T	96706525	3	4	17	1	0	0	0	0	1	0	0	0	5212	884	31	1	812	1	EPHA6	3	96706525	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	57936301	96706525	101315905	20	1086											
TMPRSS7	344805	broad.mit.edu	37	chr3	111782428	111782428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtgtccctcaggcccagCgttgtgatggagtaaatgac	9	11	12	9	1	1	2	1	2	0	0	2	3	2	3	2	2	1	2	2	2	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:111782428C>T	uc010hqb.2	+	9	1296	c.1126C>T	c.(1126-1128)Cgt>Tgt	p.R376C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R231C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	502	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCAGGCCCAGCGTTGTGATGG	0.383													T	111782428	C	T	111782428	3	4	17	1	0	0	0	0	1	0	0	0	16352	768	27	1	1160	1	TMPRSS7	3	111782428	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	15075903	111782428	86240002	21	1087											
POLQ	10721	broad.mit.edu	37	chr3	121212455	121212455	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatttagtaaggatacccGaaccaggtcacacagctccc	13	7	8	13	1	1	0	1	0	0	0	2	2	2	1	3	2	4	3	3	2	4	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:121212455G>T	uc003eee.4	-	14	2521	c.2392C>A	c.(2392-2394)Cgg>Agg	p.R798R	POLQ_uc003eed.3_5'Flank	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	798					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AAGGATACCCGAACCAGGTCA	0.488								DNA polymerases (catalytic subunits)					T	121212455	G	T	121212455	2	4	17	1	0	0	0	0	0	0	0	1	12285	1057	37	4		4	POLQ	3	121212455	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	9430027	121212455	76809975	22	1088											
AGTR1	185	broad.mit.edu	37	chr3	148459240	148459240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagtcccgccttcgaCgcacaatgcttgtagccaaa	12	8	8	13	3	0	1	0	1	0	0	2	2	1	1	3	0	2	3	3	0	5	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:148459240C>T	uc003ewg.3	+	3	864	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	AGTR1_uc003ewh.3_Missense_Mutation_p.R140C|AGTR1_uc003ewi.3_Missense_Mutation_p.R140C|AGTR1_uc003ewj.3_Missense_Mutation_p.R140C|AGTR1_uc003ewk.3_Missense_Mutation_p.R140C|AGTR1_uc021xfj.1_Missense_Mutation_p.R140C	NM_031850	NP_114438	P30556	AGTR1_HUMAN	Homo sapiens angiotensin II receptor, type 1 (AGTR1), transcript variant 4, mRNA.	140					calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	p.R140C(2)|p.R140H(1)|p.R139*(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CCGCCTTCGACGCACAATGCT	0.473													T	148459240	C	T	148459240	3	4	17	1	0	0	0	0	1	0	0	0	401	536	19	1	420	1	AGTR1	3	148459240	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	27246785	148459240	49563190	23	1089											
RTP2	344892	broad.mit.edu	37	chr3	187416724	187416724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagcccgcccgctgggcGcggtccaggaacatgtggaa	8	4	15	14	5	0	0	0	0	0	0	1	3	1	2	4	4	2	1	4	4	2	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr3:187416724G>A	uc003fro.1	-	1	669	c.240C>T	c.(238-240)cgC>cgT	p.R80R		NM_001004312	NP_001004312	Q5QGT7	RTP2_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 2 (RTP2), mRNA.	80					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		CCCGCTGGGCGCGGTCCAGGA	0.657													A	187416724	G	A	187416724	2	1	17	1	0	0	0	0	0	0	0	1	13825	1074	38	1		1	RTP2	3	187416724	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	38957484	187416724	10605706	24	1090											
TLR6	10333	broad.mit.edu	37	chr4	38830432	38830432	+	Frame_Shift_Del	DEL	C	C	-																															atattagtcagttgtaagcaCcctaaagtattaactgatat																								rs146892714		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:38830432delC	uc010ifg.2	-	1	784	c.663delG	c.(661-663)gggfs	p.G221fs	TLR6_uc003gtm.3_Frame_Shift_Del_p.G221fs	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	221					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GTTGTAAGCACCCTAAAGTAT	0.323													-	38830432	C	-	38830432	7	5	17	1	0	1	0	1	0	0	0	0	16055	494	18	0	1731	0	TLR6	4	38830432	Frame_Shift_Del	DEL	C	TCGA-06-0137-01A-01D-1490-08		38830432	152323844	25	1091											
TMEM156	80008	broad.mit.edu	37	chr4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtcctggtgaagttacGaaaattggagggatttagaa	14	10	13	4	1	0	2	0	1	0	1	1	5	1	4	1	3	1	2	1	3	7	4	rs13118782		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr4:39000377G>A	uc003gto.3	-	1	349	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368													A	39000377	G	A	39000377	3	1	17	1	0	0	0	0	1	0	0	0	16173	1058	37	1	669	1	TMEM156	4	39000377	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	169945	39000377	152153899	26	1092											
RAI14	26064	broad.mit.edu	37	chr5	34823835	34823835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgatgaagctgaggacAtgaaagaagccatgaatagg	16	6	13	6	0	0	6	0	5	0	1	0	7	0	7	2	2	2	1	2	2	5	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:34823835A>G	uc003jis.3	+	16	2436	c.1897A>G	c.(1897-1899)Atg>Gtg	p.M633V	RAI14_uc003jir.3_Missense_Mutation_p.M630V|RAI14_uc010iur.3_Missense_Mutation_p.M601V|RAI14_uc011coj.2_Missense_Mutation_p.M630V|RAI14_uc003jit.3_Missense_Mutation_p.M630V|RAI14_uc011cok.2_Missense_Mutation_p.M622V	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	630						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGCTGAGGACATGAAAGAAGC	0.418													G	34823835	A	G	34823835	3	3	17	1	0	0	0	0	1	0	0	0	13096	217	8	3	2007	3	RAI14	5	34823835	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08		34823835	146091425	27	1093											
UGT3A2	167127	broad.mit.edu	37	chr5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatagggcttgaggtgcGtcgcgccccctgtctggagg	6	8	16	11	3	1	2	0	1	1	1	2	3	1	3	2	4	1	1	2	4	1	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:36035966G>A	uc003jjz.2	-	6	1538	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_uc011cos.2_Missense_Mutation_p.T435M|UGT3A2_uc011cot.2_Missense_Mutation_p.T167M	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	469						integral to membrane	glucuronosyltransferase activity	p.A468T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627													A	36035966	G	A	36035966	3	1	17	1	0	0	0	0	1	0	0	0	17066	1145	40	1	169	1	UGT3A2	5	36035966	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	1212131	36035966	144879294	28	1094											
HEATR7B2	133558	broad.mit.edu	37	chr5	41067251	41067251	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcataataaatcaatcGttggacaattgcatcatcca	17	10	6	8	1	2	1	2	0	0	1	4	2	3	2	1	1	2	3	1	1	6	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:41067251G>A	uc003jmj.4	-	2	650	c.160C>T	c.(160-162)Cga>Tga	p.R54*	HEATR7B2_uc021xxt.1_Nonsense_Mutation_p.R54*	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	54							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TAAATCAATCGTTGGACAATT	0.373													A	41067251	G	A	41067251	4	1	17	1	0	0	0	0	0	1	0	0	7090	1153	40	1	4757	1	HEATR7B2	5	41067251	Nonsense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5031285	41067251	139848009	29	1095											
SLC27A6	28965	broad.mit.edu	37	chr5	128302221	128302221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgccaagctgggctgcGtggtggcctttctcaacacc	5	9	12	15	2	1	0	1	0	1	0	3	0	1	0	4	3	3	2	4	3	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:128302221G>A	uc003kuy.3	+	1	787	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	SLC27A6_uc003kuz.3_Missense_Mutation_p.V131M	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	131					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GCTGGGCTGCGTGGTGGCCTT	0.592													A	128302221	G	A	128302221	3	1	17	1	0	0	0	0	1	0	0	0	14624	1145	40	1	393	1	SLC27A6	5	128302221	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	87234970	128302221	52613039	30	1096											
ABLIM3	22885	broad.mit.edu	37	chr5	148637854	148637854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgccctgcctccttcagCgccacctgtcccaggaagag	6	7	10	18	1	1	1	1	0	0	1	3	2	3	2	7	1	3	0	7	1	1	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:148637854C>T	uc003lpy.2	+	24	2190	c.1939_splice	c.e24-1	p.R647_splice	ABLIM3_uc003lpz.1_Splice_Site_p.R647_splice|ABLIM3_uc003lqa.1_Splice_Site_p.R544_splice|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Splice_Site_p.R614_splice|ABLIM3_uc003lqd.1_Splice_Site_p.R552_splice|ABLIM3_uc003lqe.1_Splice_Site_p.R536_splice|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	647	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCCTTCAGCGCCACCTGTC	0.582													T	148637854	C	T	148637854	3	4	17	1	0	0	0	0	1	0	0	0	96	782	27	1	2029	1	ABLIM3	5	148637854	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	20335633	148637854	32277406	31	1097											
DOCK2	1794	broad.mit.edu	37	chr5	169108785	169108785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattgtcagagatgaagacGgaaatatcttggaccctgat	13	11	11	6	1	2	5	1	3	1	2	2	8	2	7	1	2	0	0	1	2	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr5:169108785G>A	uc003maf.3	+	6	588	c.508G>A	c.(508-510)Gga>Aga	p.G170R	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	170					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	p.G170R(6)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGATGAAGACGGAAATATCTT	0.413													A	169108785	G	A	169108785	3	1	17	1	0	0	0	0	1	0	0	0	4726	1117	39	1	534	1	DOCK2	5	169108785	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	20470931	169108785	11806475	32	1098											
HCRTR2	3062	broad.mit.edu	37	chr6	55120034	55120034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttaagagcacagcaaagcGggcccgtaacagcattgtca	13	7	11	10	2	1	1	1	0	0	1	1	1	1	1	1	1	5	5	1	1	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:55120034G>A	uc003pcl.3	+	2	818	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Missense_Mutation_p.R103Q	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	168					feeding behavior	integral to plasma membrane	neuropeptide receptor activity	p.R168W(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGCAAAGCGGGCCCGTAAC	0.517													A	55120034	G	A	55120034	3	1	17	1	0	0	0	0	1	0	0	0	7057	1116	39	1	513	1	HCRTR2	6	55120034	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		55120034	115995033	33	1099											
COL19A1	1310	broad.mit.edu	37	chr6	70840111	70840111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaggcctgaaaggagAcaaggtaatcagattttttt	13	11	12	5	0	1	3	1	1	0	2	1	5	1	4	1	4	1	2	1	4	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:70840111A>G	uc003pfc.1	+	17	1496	c.1379A>G	c.(1378-1380)gAc>gGc	p.D460G	COL19A1_uc010kam.2_Missense_Mutation_p.D356G	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	460	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTGAAAGGAGACAAGGTAATC	0.403													G	70840111	A	G	70840111	3	3	17	1	0	0	0	0	1	0	0	0	3707	275	10	3	1445	3	COL19A1	6	70840111	Missense_Mutation	SNP	A	TCGA-06-0137-01A-01D-1490-08	15720077	70840111	100274956	34	1100											
ZNF292	23036	broad.mit.edu	37	chr6	87967291	87967291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctaaaggggggtaatgGtgaaaatgcagtttttcctt	10	15	11	5	0	1	1	0	1	1	0	2	1	2	1	1	4	1	3	1	4	5	6			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr6:87967291G>C	uc003plm.4	+	7	3985	c.3944G>C	c.(3943-3945)gGt>gCt	p.G1315A		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	1315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GGGGGTAATGGTGAAAATGCA	0.383													C	87967291	G	C	87967291	3	2	17	1	0	0	0	0	1	0	0	0	17927	1261	44	4	3974	4	ZNF292	6	87967291	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	17127180	87967291	83147776	35	1101											
IQCE	23288	broad.mit.edu	37	chr7	2611946	2611946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaggccacatctcaggcGctctgccagcaacggtgagc	10	5	13	13	2	2	2	1	1	2	1	3	3	2	2	2	3	4	2	2	3	2	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:2611946G>A	uc003sml.1	+	4	564	c.380G>A	c.(379-381)cGc>cAc	p.R127H	IQCE_uc010ksm.1_Missense_Mutation_p.R127H|IQCE_uc011jvy.1_Missense_Mutation_p.R111H|IQCE_uc011jvz.1_Missense_Mutation_p.R62H|IQCE_uc003smo.4_Missense_Mutation_p.R127H|IQCE_uc003smk.4_Missense_Mutation_p.R111H|IQCE_uc003smn.4_Missense_Mutation_p.R62H	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	127										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)		CATCTCAGGCGCTCTGCCAGC	0.617													A	2611946	G	A	2611946	3	1	17	1	0	0	0	0	1	0	0	0	7864	1087	38	1	398	1	IQCE	7	2611946	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		2611946	156526717	36	1102											
OGDH	4967	broad.mit.edu	37	chr7	44736643	44736643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcggctgagcggccaggaCgtggagcggggcacattcag	8	6	17	10	4	1	1	1	1	0	0	2	3	1	3	1	6	2	2	1	6	0	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:44736643C>T	uc003tln.3	+	14	2190	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	OGDH_uc011kbx.2_Silent_p.D673D|OGDH_uc011kby.2_Silent_p.D527D|OGDH_uc003tlp.3_Silent_p.D688D|OGDH_uc011kbz.2_Silent_p.D472D|OGDH_uc003tlo.1_Silent_p.D510D	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	677					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGGCCAGGACGTGGAGCGGG	0.552													T	44736643	C	T	44736643	2	4	17	1	0	0	0	0	0	0	0	1	10915	535	19	1		1	OGDH	7	44736643	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	42124697	44736643	114402020	37	1103											
EGFR	1956	broad.mit.edu	37	chr7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtcaagacctgccCggcaggagtcatgggagaaa	11	5	13	12	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:55233037C>T	uc003tqk.3	+	14	2033	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233037	C	T	55233037	3	4	17	1	0	0	0	0	1	0	0	0	5006	652	23	1	1856	1	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	10496394	55233037	103905626	38	1104											
ZNF716	441234	broad.mit.edu	37	chr7	57529294	57529294	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcataagaggattcatactgGagagaaaccctacacttgtg	14	10	9	8	0	2	2	2	0	0	2	2	5	2	4	1	2	3	0	1	2	4	5			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:57529294G>T	uc011kdi.1	+	3	1239	c.1127G>T	c.(1126-1128)gGa>gTa	p.G376V		NM_001159279	NP_001152751			Homo sapiens zinc finger protein 716 (ZNF716), mRNA.											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATTCATACTGGAGAGAAACCC	0.413													T	57529294	G	T	57529294	3	4	17	1	0	0	0	0	1	0	0	0	18220	1174	41	4	1141	4	ZNF716	7	57529294	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	2296257	57529294	101609369	39	1105											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74234528	74234528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatactatggatctctcCgcatctgttaccatcccagg	8	12	9	12	1	2	1	0	1	2	0	5	2	4	2	3	3	2	2	3	3	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:74234528C>T	uc003ubd.1	-	6	781	c.597G>A	c.(595-597)gcG>gcA	p.A199A	GTF2IRD2_uc011kfi.2_Silent_p.A199A|GTF2IRD2_uc003ube.1_5'Flank|GTF2IRD2_uc003ubf.1_Silent_p.A199A	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						TGGATCTCTCCGCATCTGTTA	0.443													T	74234528	C	T	74234528	2	4	17	1	0	0	0	0	0	0	0	1	6924	639	23	1		1	GTF2IRD2	7	74234528	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	16705234	74234528	84904135	40	1106											
PCLO	27445	broad.mit.edu	37	chr7	82763627	82763627	+	Frame_Shift_Del	DEL	G	G	-																															acacttgattcttgcattcaGtgcaagtattgaagttagga																										TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:82763627delG	uc003uhx.2	-	2	3528	c.3239delC	c.(3238-3240)actfs	p.T1080fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.T1080fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1026					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTGCATTCAGTGCAAGTATT	0.353													-	82763627	G	-	82763627	7	5	17	1	0	1	0	1	0	0	0	0	11659	1029	36	0	12298	0	PCLO	7	82763627	Frame_Shift_Del	DEL	G	TCGA-06-0137-01A-01D-1490-08	8529099	82763627	76375036	41	1107											
PTN	5764	broad.mit.edu	37	chr7	136938378	136938378	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtcagacttcttcactTttttttctgaatgaaaggag	11	15	7	8	0	4	3	2	2	2	1	4	4	4	4	0	1	0	0	0	1	2	6			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:136938378T>A	uc003vtq.2	-	2	485	c.122A>T	c.(121-123)aAa>aTa	p.K41I		NM_002825	NP_002816	P21246	PTN_HUMAN	Homo sapiens pleiotrophin (PTN), mRNA.	41					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity	p.K40I(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						CTTCTTCACTTTTTTTTCTGA	0.473													A	136938378	T	A	136938378	3	1	17	1	0	0	0	0	1	0	0	0	12854	1841	64	5	396	5	PTN	7	136938378	Missense_Mutation	SNP	T	TCGA-06-0137-01A-01D-1490-08	54174751	136938378	22200285	42	1108											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138440463	138440463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttccagcctcacattgaCgctctccaacatctctctgc	8	12	4	17	1	5	1	1	1	4	0	8	1	6	1	3	0	3	1	3	0	1	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr7:138440463C>T	uc003vuf.3	-	8	1025	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	ATP6V0A4_uc003vug.3_Missense_Mutation_p.V263I|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.V263I	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	263					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CTCACATTGACGCTCTCCAAC	0.522													T	138440463	C	T	138440463	3	4	17	1	0	0	0	0	1	0	0	0	1175	536	19	1	1787	1	ATP6V0A4	7	138440463	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	1502085	138440463	20698200	43	1109											
DLGAP2	9228	broad.mit.edu	37	chr8	1497705	1497705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttggcgctgacgcccgaCgccaagtacctgaagcgcag	8	5	15	13	5	0	2	0	2	0	0	0	3	0	2	3	2	2	4	3	2	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:1497705C>T	uc003wpl.3	+	1	943	c.846C>T	c.(844-846)gaC>gaT	p.D282D	DLGAP2_uc003wpm.3_Silent_p.D282D	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	361					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TGACGCCCGACGCCAAGTACC	0.647													T	1497705	C	T	1497705	2	4	17	1	0	0	0	0	0	0	0	1	4599	535	19	1		1	DLGAP2	8	1497705	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		1497705	144866317	44	1110											
KCNV1	27012	broad.mit.edu	37	chr8	110984522	110984522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctttagcatgcgcagaGccctgagcagcctcaacacc	10	6	9	16	1	1	2	1	1	0	1	1	2	1	2	4	0	7	4	4	0	2	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:110984522G>T	uc003ynr.4	-	1	1760	c.956C>A	c.(955-957)gCt>gAt	p.A319D	KCNV1_uc010mcw.3_Missense_Mutation_p.A319D	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	319						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CATGCGCAGAGCCCTGAGCAG	0.502													T	110984522	G	T	110984522	3	4	17	1	0	0	0	0	1	0	0	0	8152	971	34	4	554	4	KCNV1	8	110984522	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	109486817	110984522	35379500	45	1111											
CSMD3	114788	broad.mit.edu	37	chr8	113988211	113988211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacctgaatttctgagactCgtaacttgcactcgctgttc	9	13	8	11	2	1	3	0	2	1	2	4	4	1	3	1	0	2	4	1	0	2	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr8:113988211C>T	uc003ynu.3	-	6	1356	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	CSMD3_uc003ynt.3_Silent_p.T359T|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	399						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGAGACTCGTAACTTGCA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113988211	C	T	113988211	2	4	17	1	0	0	0	0	0	0	0	1	3979	871	31	1		1	CSMD3	8	113988211	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	3003689	113988211	32375811	46	1112											
GABBR2	9568	broad.mit.edu	37	chr9	101235479	101235479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggctcgaaatccacGccaatgtagccctccatggc	9	7	10	15	2	1	0	1	0	0	0	4	1	3	0	4	3	1	2	4	3	3	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:101235479G>A	uc004ays.3	-	5	1408	c.948C>T	c.(946-948)ggC>ggT	p.G316G		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	316					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	CGAAATCCACGCCAATGTAGC	0.572													A	101235479	G	A	101235479	2	1	17	1	0	0	0	0	0	0	0	1	6208	1074	38	1		1	GABBR2	9	101235479	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		101235479	39977952	47	1113											
TSC1	7248	broad.mit.edu	37	chr9	135804224	135804224	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcatgggggagtccagcatGgcaagaagctccccgacatt	11	6	13	11	1	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:135804224G>T	uc004cca.2	-	2	270	c.36C>A	c.(34-36)gcC>gcA	p.A12A	TSC1_uc004ccb.3_Silent_p.A12A|TSC1_uc011mcq.1_Silent_p.A12A|TSC1_uc011mcr.2_Intron|TSC1_uc011mcs.1_5'UTR|TSC1_uc004ccc.1_Silent_p.A12A|TSC1_uc004cce.1_Silent_p.A12A	NM_000368	NP_000359	Q92574	TSC1_HUMAN	Homo sapiens tuberous sclerosis 1 (TSC1), transcript variant 1, mRNA.	12					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.A12A(2)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		AGTCCAGCATGGCAAGAAGCT	0.502			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				T	135804224	G	T	135804224	2	4	17	1	0	0	0	0	0	0	0	1	16706	1335	47	4		4	TSC1	9	135804224	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	34568745	135804224	5409207	48	1114											
LCN1	3933	broad.mit.edu	37	chr9	138415812	138415812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggcgagctgcacgggaagCcggtccgaggggtgaagctc	8	4	19	10	4	0	1	0	1	0	0	2	4	1	2	2	5	4	3	2	5	2	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr9:138415812C>T	uc022bpk.1	+	3	439	c.379C>T	c.(379-381)Ccg>Tcg	p.P127S	LCN1_uc022bpj.1_Missense_Mutation_p.P127S|LCN1_uc004cfz.2_Missense_Mutation_p.P127S|LCN1_uc004cga.2_Missense_Mutation_p.P127S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	127					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		GCACGGGAAGCCGGTCCGAGG	0.632													T	138415812	C	T	138415812	3	4	17	1	0	0	0	0	1	0	0	0	8739	739	26	2	393	2	LCN1	9	138415812	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	2611588	138415812	2797619	49	1115											
OR52K1	390036	broad.mit.edu	37	chr11	4511035	4511035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagaccaagcagattcGtgagtatgtgctcagtctat	12	11	10	8	1	3	3	2	1	1	2	4	3	3	3	1	0	2	3	1	0	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4511035G>A	uc001lza.2	+	0	927	c.905G>A	c.(904-906)cGt>cAt	p.R302H		NM_001005171	NP_001005171	Q8NGK4	O52K1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily K, member 1 (OR52K1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		AAGCAGATTCGTGAGTATGTG	0.433													A	4511035	G	A	4511035	3	1	17	1	0	0	0	0	1	0	0	0	11199	1145	40	1	907	1	OR52K1	11	4511035	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		4511035	130495481	50	1116											
OR51F1	256892	broad.mit.edu	37	chr11	4790947	4790947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagatcagtggctgatagCctgaagaggaaataatacat	15	8	10	8	0	1	4	1	2	0	2	1	5	1	5	2	2	2	1	2	2	5	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:4790947C>A	uc010qyl.2	-	0	201	c.201G>T	c.(199-201)agG>agT	p.R67S		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	67						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		TGGCTGATAGCCTGAAGAGGA	0.443													A	4790947	C	A	4790947	3	1	17	1	0	0	0	0	1	0	0	0	11172	738	26	4	740	4	OR51F1	11	4790947	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	279912	4790947	130215569	51	1117											
RBMXL2	27288	broad.mit.edu	37	chr11	7111041	7111041	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactaccgcgaaccccggggTtttgccccctcgcccggaga	6	6	12	17	5	0	1	0	0	0	1	1	4	0	1	6	3	3	1	6	3	2	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:7111041T>G	uc001mfc.2	+	0	877	c.690T>G	c.(688-690)ggT>ggG	p.G230G		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	230	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding	p.R229Q(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AACCCCGGGGTTTTGCCCCCT	0.692													G	7111041	T	G	7111041	2	3	17	1	0	0	0	0	0	0	0	1	13242	1712	60	5		5	RBMXL2	11	7111041	Silent	SNP	T	TCGA-06-0137-01A-01D-1490-08	2320094	7111041	127895475	52	1118											
PLEKHA7	144100	broad.mit.edu	37	chr11	16838834	16838834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggacagggattggccaGgaccctggcgaggaagcgtc	10	4	18	9	2	0	0	0	0	0	0	1	6	0	5	2	7	1	0	2	7	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:16838834G>A	uc010rcu.1	-	10	1394	c.1379C>T	c.(1378-1380)cCt>cTt	p.P460L	PLEKHA7_uc001mmo.3_Missense_Mutation_p.P460L|PLEKHA7_uc010rcv.2_Missense_Mutation_p.P34L|PLEKHA7_uc001mmn.3_Missense_Mutation_p.P168L	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	460					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	p.G459S(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGATTGGCCAGGACCCTGGCG	0.602													A	16838834	G	A	16838834	3	1	17	1	0	0	0	0	1	0	0	0	12138	1000	35	2	2038	2	PLEKHA7	11	16838834	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	9727793	16838834	118167682	53	1119											
CD44	960	broad.mit.edu	37	chr11	35227763	35227763	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctcacaccccatgggaCgaggtcatcaagcaggaaga	14	5	10	12	1	3	1	3	0	1	1	4	4	3	3	2	3	1	1	2	3	3	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:35227763C>T	uc001mvu.3	+	10	1821	c.1387C>T	c.(1387-1389)Cga>Tga	p.R463*	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.R420*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Nonsense_Mutation_p.R27*|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	463	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	CCCCATGGGACGAGGTCATCA	0.443													T	35227763	C	T	35227763	4	4	17	1	0	0	0	0	0	1	0	0	3047	528	19	1	1429	1	CD44	11	35227763	Nonsense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	18388929	35227763	99778753	54	1120											
OR4C16	219428	broad.mit.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	3	7			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:55339695G>A	uc010rih.2	+	0	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(4)|p.R31L(2)		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)				ATTTTTTTGCGTCTCTACTTG	0.368													A	55339695	G	A	55339695	3	1	17	1	0	0	0	0	1	0	0	0	11125	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	20111932	55339695	79666821	55	1121											
FOLR1	2348	broad.mit.edu	37	chr11	71906672	71906672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggtggatcagagctggcGcaaagagcgggtactgaacg	11	5	16	9	3	1	3	1	1	0	2	1	4	1	4	1	4	4	3	1	4	3	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr11:71906672G>A	uc001orz.2	+	4	650	c.374G>A	c.(373-375)cGc>cAc	p.R125H	FOLR1_uc001osa.2_Missense_Mutation_p.R125H|FOLR1_uc001osb.2_Missense_Mutation_p.R125H|FOLR1_uc001osd.2_Missense_Mutation_p.R125H	NM_016724	NP_057941	P15328	FOLR1_HUMAN	Homo sapiens folate receptor 1 (adult) (FOLR1), transcript variant 7, mRNA.	125					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity	p.R125C(1)		cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						CAGAGCTGGCGCAAAGAGCGG	0.537													A	71906672	G	A	71906672	3	1	17	1	0	0	0	0	1	0	0	0	6030	1087	38	1	384	1	FOLR1	11	71906672	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	16566977	71906672	63099844	56	1122											
PIK3C2G	5288	broad.mit.edu	37	chr12	18576934	18576934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaacttctactccaccGctccttgcagagcatccagg	9	9	8	15	1	1	1	0	0	1	1	4	1	4	1	4	1	5	4	4	1	2	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:18576934G>A	uc001rdt.3	+	16	2458	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R822H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R600H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	781					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R781H(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTACTCCACCGCTCCTTGCAG	0.428													A	18576934	G	A	18576934	3	1	17	1	0	0	0	0	1	0	0	0	11988	1087	38	1	2404	1	PIK3C2G	12	18576934	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		18576934	115274961	57	1123											
ABCD2	225	broad.mit.edu	37	chr12	40012537	40012538	+	Frame_Shift_Ins	INS	-	-	A																															tataattctcgagtgcacatINSaccgcaaatagccttttcta																										TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:40012537_40012538insA	uc001rmb.2	-	0	1306_1307	c.880_881insT	c.(880-882)tatfs	p.Y294fs		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	294	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						CGAGTGCACATACCGCAAATAG	0.406													A	40012538	-	A	40012537	7	5	17	1	0	1	1	0	0	0	0	0	61	1406	49	0	1381	0	ABCD2	12	40012537	Frame_Shift_Ins	INS	-	TCGA-06-0137-01A-01D-1490-08	21435603	40012537	93839358	58	1124											
AMDHD1	144193	broad.mit.edu	37	chr12	96354263	96354263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaatggggaaatacaCgtggacaatatagacgtatt	16	8	12	5	2	0	2	0	0	0	2	0	4	0	4	0	4	1	2	0	4	7	5			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:96354263C>T	uc001tel.2	+	4	781	c.675C>T	c.(673-675)caC>caT	p.H225H	AMDHD1_uc009zth.2_Silent_p.H116H	NM_152435	NP_689648	Q96NU7	HUTI_HUMAN	Homo sapiens amidohydrolase domain containing 1 (AMDHD1), mRNA.	225					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						GGGAAATACACGTGGACAATA	0.413													T	96354263	C	T	96354263	2	4	17	1	0	0	0	0	0	0	0	1	567	535	19	1		1	AMDHD1	12	96354263	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	56341726	96354263	37497632	59	1125											
DAO	1610	broad.mit.edu	37	chr12	109293195	109293195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactggcttccggccagtaCgcccccagattcggctagaa	9	7	11	14	3	0	2	0	0	0	2	2	3	1	2	4	3	2	3	4	3	4	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:109293195C>T	uc001tnr.4	+	9	1527	c.856C>T	c.(856-858)Cgc>Tgc	p.R286C	DAO_uc001tnq.4_Missense_Mutation_p.R220C|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	286					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity	p.R286H(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						CCGGCCAGTACGCCCCCAGAT	0.468													T	109293195	C	T	109293195	3	4	17	1	0	0	0	0	1	0	0	0	4265	536	19	1	890	1	DAO	12	109293195	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12938932	109293195	24558700	60	1126											
NOS1	4842	broad.mit.edu	37	chr12	117768667	117768667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggtccaccaagggccGgccgttgaccgcaagaatga	10	5	13	13	3	1	3	1	2	0	1	2	3	2	3	5	3	0	3	5	3	3	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr12:117768667G>A	uc001twn.2	-	1	919	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	NOS1_uc001twm.2_Missense_Mutation_p.R70W	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	70	Interaction with NOSIP (By similarity).|PDZ.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R70Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ACCAAGGGCCGGCCGTTGACC	0.612													A	117768667	G	A	117768667	3	1	17	1	0	0	0	0	1	0	0	0	10617	1115	39	1	4208	1	NOS1	12	117768667	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	8475472	117768667	16083228	61	1127											
OR4N5	390437	broad.mit.edu	37	chr14	20612259	20612259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttgtgatggcctttgaccGctacatcgccatctgccggc	5	11	11	14	4	1	2	0	2	1	0	2	2	1	2	4	2	2	2	4	2	1	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:20612259G>A	uc010tla.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001004724	NP_001004724	Q8IXE1	OR4N5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 5 (OR4N5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		GCCTTTGACCGCTACATCGCC	0.478													A	20612259	G	A	20612259	3	1	17	1	0	0	0	0	1	0	0	0	11155	1087	38	1	367	1	OR4N5	14	20612259	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		20612259	86737281	62	1128											
MYH6	4624	broad.mit.edu	37	chr14	23855760	23855760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctctgccagcttccgctCgatctctgccttgatctggt	3	15	8	15	2	3	1	0	1	3	0	7	2	4	1	3	1	3	2	3	1	0	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:23855760C>T	uc001wjv.3	-	32	4794	c.4723G>A	c.(4723-4725)Gag>Aag	p.E1575K		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1575					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCTTCCGCTCGATCTCTGCC	0.647													T	23855760	C	T	23855760	3	4	17	1	0	0	0	0	1	0	0	0	10114	893	31	1	1124	1	MYH6	14	23855760	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	3243501	23855760	83493780	63	1129											
ATL1	51062	broad.mit.edu	37	chr14	51080061	51080061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccaaattcttggaaaaaCgcctcaaggtttgttagata	13	12	9	7	1	2	1	1	0	1	1	2	2	2	2	2	2	2	2	2	2	6	5	rs119476046		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:51080061C>T	uc021rsw.1	+	6	956	c.715C>T	c.(715-717)Cgc>Tgc	p.R239C	ATL1_uc001wyd.4_Missense_Mutation_p.R239C|ATL1_uc001wyf.4_Missense_Mutation_p.R239C|ATL1_uc001wye.4_Missense_Mutation_p.R239C|ATL1_uc021rsx.1_Missense_Mutation_p.R239C	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	239			R -> C (in SPG3; affects endoplasmic reticulum and Golgi morphology).		axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTTGGAAAAACGCCTCAAGGT	0.353													T	51080061	C	T	51080061	3	4	17	1	0	0	0	0	1	0	0	0	1111	536	19	1	741	1	ATL1	14	51080061	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	27224301	51080061	56269479	64	1130											
CLMN	79789	broad.mit.edu	37	chr14	95677055	95677055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagcctggggatgtgcaggGcatcctgtgcgatgctgaaa	8	8	17	8	1	0	1	0	1	0	0	1	4	1	3	2	4	4	3	2	4	1	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr14:95677055G>A	uc001yef.2	-	6	886	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	257	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GATGTGCAGGGCATCCTGTGC	0.483													A	95677055	G	A	95677055	3	1	17	1	0	0	0	0	1	0	0	0	3573	1203	42	2	2266	2	CLMN	14	95677055	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	44596994	95677055	11672485	65	1131											
RYR3	6263	broad.mit.edu	37	chr15	33895522	33895522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaatggtgttggtgaCgacctgtactcctatggctt	7	12	14	8	1	0	1	0	1	0	0	1	3	1	2	2	5	1	4	2	5	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:33895522C>T	uc001zhi.3	+	17	2191	c.2121C>T	c.(2119-2121)gaC>gaT	p.D707D	RYR3_uc010bar.3_Silent_p.D707D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	707	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D707D(2)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTGTTGGTGACGACCTGTACT	0.537													T	33895522	C	T	33895522	2	4	17	1	0	0	0	0	0	0	0	1	13861	535	19	1		1	RYR3	15	33895522	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		33895522	68635870	66	1132											
PLCB2	5330	broad.mit.edu	37	chr15	40583828	40583828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagcttctttcatagcctCttccctggccccggccctgg	3	11	9	18	2	3	0	1	0	2	0	4	0	4	0	5	3	2	2	5	3	1	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr15:40583828C>T	uc001zld.3	-	24	2927	c.2626G>A	c.(2626-2628)Gag>Aag	p.E876K	PLCB2_uc001zlc.3_5'Flank|PLCB2_uc010bbo.3_Missense_Mutation_p.E872K|PLCB2_uc010ucm.2_Intron	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	876					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TTCATAGCCTCTTCCCTGGCC	0.706													T	40583828	C	T	40583828	3	4	17	1	0	0	0	0	1	0	0	0	12105	922	32	2	963	2	PLCB2	15	40583828	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	6688306	40583828	61947564	67	1133											
ACSM3	6296	broad.mit.edu	37	chr16	20787173	20787173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctcaggctggaaagaaaCcttcaaatccagccttctgg	11	10	8	12	0	3	1	2	0	1	1	5	2	5	2	4	3	2	1	4	3	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:20787173C>A	uc010vba.2	+	1	283	c.208C>A	c.(208-210)Cct>Act	p.P70T	ACSM3_uc002dhq.3_Missense_Mutation_p.P78T|ACSM3_uc002dhr.3_Missense_Mutation_p.P78T	NM_005622	NP_005613	Q53FZ2	ACSM3_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 3 (ACSM3), transcript variant 1, mRNA.	78					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TGGAAAGAAACCTTCAAATCC	0.403													A	20787173	C	A	20787173	3	1	17	1	0	0	0	0	1	0	0	0	185	507	18	4	238	4	ACSM3	16	20787173	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08		20787173	69567580	68	1134											
ITGAM	3684	broad.mit.edu	37	chr16	31338227	31338227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaggcttcccttggaaaCaaactgctcctcaaggccaa	12	9	7	13	0	2	0	1	0	1	0	4	1	4	1	3	3	3	2	3	3	5	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:31338227C>A	uc002ebr.3	+	21	2780	c.2682C>A	c.(2680-2682)aaC>aaA	p.N894K	ITGAM_uc002ebq.3_Missense_Mutation_p.N893K|ITGAM_uc010can.3_Missense_Mutation_p.N299K|ITGAM_uc002ebs.1_Missense_Mutation_p.N299K	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	893					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCCTTGGAAACAAACTGCTCC	0.512													A	31338227	C	A	31338227	3	1	17	1	0	0	0	0	1	0	0	0	7945	477	17	4	2768	4	ITGAM	16	31338227	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	10551054	31338227	59016526	69	1135											
RRAD	6236	broad.mit.edu	37	chr16	66957764	66957764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacctgctcccaaatgtcGtagaccatgagtgatgcctc	9	10	8	14	1	0	3	0	2	0	1	3	3	1	3	5	0	3	2	5	0	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:66957764G>A	uc002eqn.2	-	2	581	c.429C>T	c.(427-429)taC>taT	p.Y143Y	RRAD_uc002eqo.2_Silent_p.Y143Y	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	143					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		CCCAAATGTCGTAGACCATGA	0.582													A	66957764	G	A	66957764	2	1	17	1	0	0	0	0	0	0	0	1	13762	1140	40	1		1	RRAD	16	66957764	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	35619537	66957764	23396989	70	1136											
CHST5	23563	broad.mit.edu	37	chr16	75564091	75564091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaggacagcaccagcacGtgcacacgatcctcgccgcc	10	3	10	18	5	0	0	0	0	0	0	2	3	1	1	4	1	3	3	4	1	0	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr16:75564091G>A	uc002fej.1	-	4	531	c.210C>T	c.(208-210)caC>caT	p.H70H	CHST5_uc002fei.3_Silent_p.H64H|CHST5_uc021tlk.1_Silent_p.H64H	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	64					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GCACCAGCACGTGCACACGAT	0.657													A	75564091	G	A	75564091	2	1	17	1	0	0	0	0	0	0	0	1	3437	1136	40	1		1	CHST5	16	75564091	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	8606327	75564091	14790662	71	1137											
KIF2B	84643	broad.mit.edu	37	chr17	51900728	51900728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagggaccagcgtaccGccacgaaatgggttgcgatg	10	6	13	12	4	1	0	1	0	0	0	1	3	1	1	4	2	3	2	4	2	2	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:51900728G>A	uc002iua.2	+	0	490	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	112			A -> V (in dbSNP:rs3803824).		blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CCAGCGTACCGCCACGAAATG	0.602													A	51900728	G	A	51900728	3	1	17	1	0	0	0	0	1	0	0	0	8356	1087	38	1	336	1	KIF2B	17	51900728	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		51900728	29294482	72	1138											
UTS2R	2837	broad.mit.edu	37	chr17	80332605	80332605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttcctgaccatgcaCgccagcatcttcacgctgac	8	9	8	16	2	2	2	1	2	1	0	3	3	3	3	3	1	2	3	3	1	0	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr17:80332605C>T	uc010wvl.2	+	0	405	c.405C>T	c.(403-405)caC>caT	p.H135H		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	135						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			TGACCATGCACGCCAGCATCT	0.662													T	80332605	C	T	80332605	2	4	17	1	0	0	0	0	0	0	0	1	17208	535	19	1		1	UTS2R	17	80332605	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	28431877	80332605	862605	73	1139											
POTEC	388468	broad.mit.edu	37	chr18	14537857	14537857	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgctttggccattaatttAtcttcattgtggacagcata	10	16	8	7	0	2	0	1	0	1	0	2	1	2	1	1	2	2	2	1	2	3	7			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:14537857A>G	uc010dln.3	-	2	1207	c.753T>C	c.(751-753)gaT>gaC	p.D251D	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	251										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CCATTAATTTATCTTCATTGT	0.343													G	14537857	A	G	14537857	2	3	17	1	0	0	0	0	0	0	0	1	12339	446	16	3		3	POTEC	18	14537857	Silent	SNP	A	TCGA-06-0137-01A-01D-1490-08		14537857	63539391	74	1140											
CDH20	28316	broad.mit.edu	37	chr18	59158011	59158011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagagtacactgggacCgaccctttgtatgtcggcaa	10	9	12	10	2	0	1	0	0	0	1	1	4	0	3	2	3	1	3	2	3	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:59158011C>T	uc010dps.1	+	0	377	c.225C>T	c.(223-225)acC>acT	p.T75T	CDH20_uc002lif.2_Silent_p.T69T	NM_031891	NP_114097	Q9HBT6	CAD20_HUMAN	Homo sapiens cadherin 20, type 2 (CDH20), mRNA.	75	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				ACACTGGGACCGACCCTTTGT	0.448													T	59158011	C	T	59158011	2	4	17	1	0	0	0	0	0	0	0	1	3136	639	23	1		1	CDH20	18	59158011	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	44620154	59158011	18919237	75	1141											
FBXO15	201456	broad.mit.edu	37	chr18	71790685	71790685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatggagttggtagccGtgcagtccatactcggggct	8	10	13	10	2	1	0	1	0	0	0	3	1	2	1	2	4	4	4	2	4	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr18:71790685G>A	uc002llf.2	-	7	1136	c.1056C>T	c.(1054-1056)caC>caT	p.H352H	FBXO15_uc002lle.2_Silent_p.H276H	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	276								p.V352I(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		GTTGGTAGCCGTGCAGTCCAT	0.443													A	71790685	G	A	71790685	2	1	17	1	0	0	0	0	0	0	0	1	5777	1136	40	1		1	FBXO15	18	71790685	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	12632674	71790685	6286563	76	1142											
RFX2	5990	broad.mit.edu	37	chr19	5997146	5997146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtagaacatgtactcGtcgtagagcaggcggatgag	12	7	14	8	3	0	3	0	1	0	2	2	4	0	4	1	3	3	4	1	3	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:5997146G>A	uc002meb.3	-	15	2207	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	RFX2_uc002mec.3_Silent_p.D621D	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	646					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						ACATGTACTCGTCGTAGAGCA	0.662													A	5997146	G	A	5997146	2	1	17	1	0	0	0	0	0	0	0	1	13351	1136	40	1		1	RFX2	19	5997146	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08		5997146	53131837	77	1143											
PRKCSH	5589	broad.mit.edu	37	chr19	11559740	11559740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacagatacgtctaccGcctctgccccttcaagcttg	7	10	6	18	2	3	1	1	0	2	1	4	1	4	1	6	0	4	1	6	0	3	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11559740G>A	uc010xlz.2	+	14	1634	c.1298G>A	c.(1297-1299)cGc>cAc	p.R433H	PRKCSH_uc002mrt.3_Missense_Mutation_p.R426H|PRKCSH_uc002mru.3_Missense_Mutation_p.R423H|PRKCSH_uc010dyb.3_Missense_Mutation_p.R423H	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	426	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TACGTCTACCGCCTCTGCCCC	0.647													A	11559740	G	A	11559740	3	1	17	1	0	0	0	0	1	0	0	0	12602	1087	38	1	1352	1	PRKCSH	19	11559740	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	5562594	11559740	47569243	78	1144											
ZNF491	126069	broad.mit.edu	37	chr19	11917007	11917007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatataaacataaacaacGtaggaaagccttgagccata	18	7	7	9	1	0	1	0	1	0	0	0	2	0	2	3	1	5	1	3	1	9	6			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:11917007G>A	uc002mso.1	+	2	524	c.239G>A	c.(238-240)cGt>cAt	p.R80H	ZNF491_uc021upj.1_Missense_Mutation_p.R80H	NM_152356	NP_689569	Q8N8L2	ZN491_HUMAN	Homo sapiens zinc finger protein 491 (ZNF491), mRNA.	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						CATAAACAACGTAGGAAAGCC	0.378													A	11917007	G	A	11917007	3	1	17	1	0	0	0	0	1	0	0	0	18043	1145	40	1	241	1	ZNF491	19	11917007	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	357267	11917007	47211976	79	1145											
HSH2D	84941	broad.mit.edu	37	chr19	16259656	16259656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccaagacggggtcccCgagtggttccatggtgcaat	7	8	14	12	2	0	1	0	0	0	1	2	2	2	1	4	5	1	2	4	5	2	1	rs77723805		TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:16259656C>T	uc002ndp.4	+	3	627	c.96C>T	c.(94-96)ccC>ccT	p.P32P	HSH2D_uc002ndr.3_5'UTR|HSH2D_uc010ead.3_Non-coding_Transcript	NM_032855	NP_116244	Q96JZ2	HSH2D_HUMAN	Homo sapiens hematopoietic SH2 domain containing (HSH2D), mRNA.	32						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						ACGGGGTCCCCGAGTGGTTCC	0.637													T	16259656	C	T	16259656	2	4	17	1	0	0	0	0	0	0	0	1	7457	639	23	1		1	HSH2D	19	16259656	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	4342649	16259656	42869327	80	1146											
LYPD4	147719	broad.mit.edu	37	chr19	42341249	42341249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaacaggaggcctaagaCgacaccccaagcaggatctt	14	4	11	12	1	1	1	0	0	1	1	1	4	1	3	3	4	2	2	3	4	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:42341249C>T	uc002orp.1	-	4	1693	c.709G>A	c.(709-711)Gtc>Atc	p.V237I	LYPD4_uc002orq.1_Missense_Mutation_p.V202I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	237						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						AGGCCTAAGACGACACCCCAA	0.483													T	42341249	C	T	42341249	3	4	17	1	0	0	0	0	1	0	0	0	9183	536	19	1	35	1	LYPD4	19	42341249	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	26081593	42341249	16787734	81	1147											
PSG7	5676	broad.mit.edu	37	chr19	43430081	43430081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaattgtccaagaatactGtgccggtgggttagagtccg	10	12	12	7	2	0	2	0	0	0	2	2	2	2	2	3	2	2	1	3	2	5	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:43430081G>C	uc002ovl.4	-	5	1186	c.1084C>G	c.(1084-1086)Cag>Gag	p.Q362E	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.Q241E	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	363	Ig-like C2-type 3.				female pregnancy	extracellular region							Prostate(69;0.00682)				CAAGAATACTGTGCCGGTGGG	0.458													C	43430081	G	C	43430081	3	2	17	1	0	0	0	0	1	0	0	0	12745	1386	48	4	180	4	PSG7	19	43430081	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	1088832	43430081	15698902	82	1148											
LILRB1	10859	broad.mit.edu	37	chr19	55143564	55143564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccgtgggtcgtcccgCgccatcttctccgtgggccc	2	9	12	18	5	2	0	0	0	2	0	5	0	3	0	5	2	1	0	5	2	0	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr19:55143564C>T	uc002qgj.3	+	5	877	c.537C>T	c.(535-537)cgC>cgT	p.R179R	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Silent_p.R179R|LILRB1_uc002qgk.3_Silent_p.R179R|LILRB1_uc002qgm.3_Silent_p.R179R|LILRB1_uc010erq.3_Silent_p.R179R|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	179	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GGTCGTCCCGCGCCATCTTCT	0.577										HNSCC(37;0.09)			T	55143564	C	T	55143564	2	4	17	1	0	0	0	0	0	0	0	1	8850	755	27	1		1	LILRB1	19	55143564	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08	11713483	55143564	3985419	83	1149											
C20orf152	140894	broad.mit.edu	37	chr20	34571988	34571988	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcacagttgcaataacCaaggacgaggatggcagcag	13	5	14	9	1	0	0	0	0	0	0	0	3	0	2	1	4	3	5	1	4	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:34571988C>A	uc002xer.1	+	4	648	c.492C>A	c.(490-492)acC>acA	p.T164T	C20orf152_uc002xes.1_Silent_p.T164T|C20orf152_uc010gfp.1_Intron	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	164										breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					TTGCAATAACCAAGGACGAGG	0.532													A	34571988	C	A	34571988	2	1	17	1	0	0	0	0	0	0	0	1	2113	581	21	4		4	C20orf152	20	34571988	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		34571988	28453532	84	1150											
KCNG1	3755	broad.mit.edu	37	chr20	49620775	49620775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaggccatgagcaggatgCcgctcaggatgctgctcagg	9	6	16	10	1	2	1	2	1	0	0	2	4	2	4	2	5	4	4	2	5	1	0			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:49620775C>T	uc002xwa.4	-	2	1638	c.1343G>A	c.(1342-1344)gGc>gAc	p.G448D		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	448						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G448D(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GAGCAGGATGCCGCTCAGGAT	0.622													T	49620775	C	T	49620775	3	4	17	1	0	0	0	0	1	0	0	0	8085	739	26	2	202	2	KCNG1	20	49620775	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	15048787	49620775	13404745	85	1151											
LAMA5	3911	broad.mit.edu	37	chr20	60887326	60887326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgccacgttcgagagcGccaggcgaaggaagccgtgg	8	4	18	11	6	0	1	0	0	0	1	1	4	0	2	3	4	3	1	3	4	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr20:60887326G>A	uc002ycq.3	-	68	9474	c.9407C>T	c.(9406-9408)gCg>gTg	p.A3136V	LAMA5_uc021wfw.1_Missense_Mutation_p.A3136V	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	3136	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTCGAGAGCGCCAGGCGAAG	0.682													A	60887326	G	A	60887326	3	1	17	1	0	0	0	0	1	0	0	0	8668	1087	38	1	1728	1	LAMA5	20	60887326	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	11266551	60887326	2138194	86	1152											
LRRC3	81543	broad.mit.edu	37	chr21	45877207	45877207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtcgtgtactatgtgcGccacaaccaggaggatgccc	9	8	11	13	3	0	0	0	0	0	0	1	2	0	2	3	2	5	1	3	2	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:45877207G>A	uc021wjs.1	+	0	680	c.680G>A	c.(679-681)cGc>cAc	p.R227H	LRRC3_uc002zfa.3_Missense_Mutation_p.R227H	NM_030891	NP_112153	Q9BY71	LRRC3_HUMAN	Homo sapiens leucine rich repeat containing 3 (LRRC3), mRNA.	227						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TACTATGTGCGCCACAACCAG	0.662													A	45877207	G	A	45877207	3	1	17	1	0	0	0	0	1	0	0	0	9054	1087	38	1	682	1	LRRC3	21	45877207	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		45877207	2252688	87	1153											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcttgctgcaccGcctcctgctgcagaccctcc	4	8	9	20	1	0	1	0	0	0	1	2	1	2	1	7	0	6	5	7	0	0	1	rs147625145	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr21:46057875G>A	uc002zfq.3	+	0	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_181688	NP_859016	P60014	KR10A_HUMAN	Homo sapiens keratin associated protein 10-10 (KRTAP10-10), mRNA.	181	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642													A	46057875	G	A	46057875	3	1	17	1	0	0	0	0	1	0	0	0	8564	1087	38	1	543	1	KRTAP10-10	21	46057875	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	180668	46057875	2072020	88	1154											
SGSM1	129049	broad.mit.edu	37	chr22	25263061	25263061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccgtccgcttccagcGtctactgggactatgccatg	6	10	9	16	3	1	0	0	0	1	0	4	1	4	1	5	1	3	1	5	1	2	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:25263061G>A	uc003abg.2	+	10	1084	c.927_splice	c.e10-1	p.S309_splice	SGSM1_uc010guu.1_Splice_Site_p.S309_splice|SGSM1_uc003abh.2_Splice_Site_p.S309_splice|SGSM1_uc003abj.2_Splice_Site_p.S309_splice|SGSM1_uc003abi.1_Splice_Site_p.S284_splice	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	309	Required for interaction with RAP family members.					Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CGCTTCCAGCGTCTACTGGGA	0.617													A	25263061	G	A	25263061	3	1	17	1	0	0	0	0	1	0	0	0	14315	1159	40	1	966	1	SGSM1	22	25263061	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08		25263061	26041505	89	1155											
SYN3	8224	broad.mit.edu	37	chr22	32924868	32924868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagggtcttacccaaggtCtgaggggggagggcgctgtg	6	8	20	7	1	2	2	0	2	2	0	2	3	2	3	1	6	1	1	1	6	2	1			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:32924868C>T	uc003amx.3	-	9	1385	c.1223G>A	c.(1222-1224)aGa>aAa	p.R408K	SYN3_uc003amy.3_Missense_Mutation_p.R408K|SYN3_uc003amz.3_Missense_Mutation_p.R407K|SYN3_uc011amc.1_Missense_Mutation_p.R42K	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	408	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TACCCAAGGTCTGAGGGGGGA	0.572											OREG0026488	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	32924868	C	T	32924868	3	4	17	1	0	0	0	0	1	0	0	0	15539	913	32	2	535	2	SYN3	22	32924868	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	7661807	32924868	18379698	90	1156											
CELSR1	9620	broad.mit.edu	37	chr22	46860064	46860064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgttgaagacgaagacGtcgtccttggtggtggacag	9	9	16	7	4	0	3	0	1	0	2	2	6	1	5	1	4	0	1	1	4	2	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chr22:46860064G>A	uc003bhw.1	-	1	3723	c.3723C>T	c.(3721-3723)gaC>gaT	p.D1241D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1241					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGACGAAGACGTCGTCCTTGG	0.642													A	46860064	G	A	46860064	2	1	17	1	0	0	0	0	0	0	0	1	3251	1136	40	1		1	CELSR1	22	46860064	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	13935196	46860064	4444502	91	1157											
CDKL5	6792	broad.mit.edu	37	chrX	18664128	18664128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccccactaactagaCggtggatgtgatggcagaag	10	10	12	9	1	1	3	0	1	1	2	2	4	1	4	2	3	1	2	2	3	3	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:18664128C>T	uc004cym.3	+	19	2967	c.2714_splice	c.e19-1	p.D905_splice	CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	905					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													T	18664128	C	T	18664128	2	4	17	1	0	0	0	0	0	0	0	1	3187	550	19	1		1	CDKL5	23	18664128	Silent	SNP	C	TCGA-06-0137-01A-01D-1490-08		18664128	136606432	92	1158											
KIF4A	24137	broad.mit.edu	37	chrX	69510643	69510643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtagcgccactcataaaaGgtgtatttaaaggtaaggcg	14	9	11	7	2	1	0	1	0	0	0	1	0	1	0	1	3	1	3	1	3	7	6			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:69510643G>T	uc004dyg.3	+	2	366	c.223G>T	c.(223-225)Ggt>Tgt	p.G75C	KIF4A_uc010nkw.3_Missense_Mutation_p.G75C|PDZD11_uc004dyd.1_5'Flank|PDZD11_uc004dye.1_5'Flank|KIF4A_uc004dyf.2_Missense_Mutation_p.G75C	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	75	Kinesin-motor.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACTCATAAAAGGTGTATTTAA	0.408													T	69510643	G	T	69510643	3	4	17	1	0	0	0	0	1	0	0	0	8361	1000	35	4	229	4	KIF4A	23	69510643	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	50846515	69510643	85759917	93	1159											
DIAPH2	1730	broad.mit.edu	37	chrX	96684727	96684727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcagagaccgtcgaaagcGgattccaaggaatccaggta	14	7	11	9	3	1	1	1	0	0	1	4	5	3	3	3	3	1	1	3	3	4	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:96684727G>A	uc004efu.4	+	25	3620	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	DIAPH2_uc004eft.4_Missense_Mutation_p.R1075Q	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	1075	Arg/Lys-rich (basic).|DAD.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding	p.R1075W(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CGTCGAAAGCGGATTCCAAGG	0.408													A	96684727	G	A	96684727	3	1	17	1	0	0	0	0	1	0	0	0	4558	1116	39	1	3326	1	DIAPH2	23	96684727	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	27174084	96684727	58585833	94	1160											
ALG13	79868	broad.mit.edu	37	chrX	110925413	110925413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaattggtagaggaacGgtggtacctgaacccttcag	11	9	12	9	1	1	2	1	1	0	1	1	3	1	3	2	4	4	3	2	4	5	4			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:110925413G>A	uc011msy.2	+	1	236	c.135G>A	c.(133-135)acG>acA	p.T45T	ALG13_uc022ccl.1_Silent_p.T45T|ALG13_uc022ccm.1_Intron|ALG13_uc022ccn.1_Silent_p.T45T|ALG13_uc004epi.2_Silent_p.T45T|ALG13_uc011msw.2_5'UTR|ALG13_uc011msx.2_Intron|ALG13_uc022ccp.1_Intron|ALG13_uc022cco.1_Non-coding_Transcript|ALG13_uc011msz.2_5'UTR|ALG13_uc011mta.2_Intron|ALG13_uc011mtb.2_5'UTR|ALG13_uc022ccq.1_Non-coding_Transcript	NM_001099922	NP_001093392	Q9NP73	ALG13_HUMAN	Homo sapiens asparagine-linked glycosylation 13 homolog (S. cerevisiae) (ALG13), transcript variant 1, mRNA.	45					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GTAGAGGAACGGTGGTACCTG	0.413													A	110925413	G	A	110925413	2	1	17	1	0	0	0	0	0	0	0	1	515	1103	39	1		1	ALG13	23	110925413	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	14240686	110925413	44345147	95	1161											
ODZ1	10178	broad.mit.edu	37	chrX	123554390	123554390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgctgctggtaatcgCgcccaagtcaccttcagaat	9	10	9	13	2	2	1	2	0	0	1	3	1	2	1	3	1	2	3	3	1	3	3	rs148440423	byFrequency	TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:123554390C>T	uc010nqy.3	-	24	4817	c.4753G>A	c.(4753-4755)Gcg>Acg	p.A1585T	ODZ1_uc011muj.2_Missense_Mutation_p.A1584T|ODZ1_uc004euj.3_Missense_Mutation_p.A1578T	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1578					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding	p.N1585N(1)		NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CTGGTAATCGCGCCCAAGTCA	0.498													T	123554390	C	T	123554390	3	4	17	1	0	0	0	0	1	0	0	0	10910	768	27	1	3477	1	ODZ1	23	123554390	Missense_Mutation	SNP	C	TCGA-06-0137-01A-01D-1490-08	12628977	123554390	31716170	96	1162											
SPANXN2	494119	broad.mit.edu	37	chrX	142795381	142795381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgagtccaggtcttcGtcctcctgtgaagatccttc	7	13	9	12	1	2	4	1	2	1	2	8	4	6	4	4	1	0	0	4	1	1	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:142795381G>A	uc004fbz.3	-	1	1051	c.297C>T	c.(295-297)gaC>gaT	p.D99D		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	99										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCTTCGTCCTCCTGTG	0.527													A	142795381	G	A	142795381	2	1	17	1	0	0	0	0	0	0	0	1	15087	1136	40	1		1	SPANXN2	23	142795381	Silent	SNP	G	TCGA-06-0137-01A-01D-1490-08	19240991	142795381	12475179	97	1163											
MAGEA1	4100	broad.mit.edu	37	chrX	152482500	152482500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacctaggcaggtgacaaGgacataggagtggccggtgg	11	5	18	7	1	0	2	0	1	0	1	0	5	0	4	2	7	0	1	2	7	3	2			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:152482500G>A	uc022chs.1	-	0	511	c.511C>T	c.(511-513)Ctt>Ttt	p.L171F	MAGEA1_uc004fhf.2_Missense_Mutation_p.L171F	NM_004988	NP_004979	P43355	MAGA1_HUMAN	Homo sapiens melanoma antigen family A, 1 (directs expression of antigen MZ2-E) (MAGEA1), mRNA.	171	MAGE.					cytoplasm|plasma membrane		p.L171F(2)		breast(1)|central_nervous_system(7)|kidney(2)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGTGACAAGGACATAGGAG	0.517													A	152482500	G	A	152482500	3	1	17	1	0	0	0	0	1	0	0	0	9234	1000	35	2	422	2	MAGEA1	23	152482500	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	9687119	152482500	2788060	98	1164											
RPL10	6134	broad.mit.edu	37	chrX	153631649	153631649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacctccagaaacacatcGtagagggcgttcagctcctt	11	8	10	12	2	1	3	1	0	0	3	4	4	3	3	3	1	2	3	3	1	2	3			TCGA-06-0137-01A-01D-1490-08	TCGA-06-0137-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37c11dfc-c37c-4cb6-bd81-9e0a7789b0f1	6d9e2e37-9db9-471e-a35d-4269e8dc7746	g.chrX:153631649G>A	uc004fkr.1	+	2	348	c.313G>A	c.(313-315)Gta>Ata	p.V105I	RPL10_uc004fkq.1_Non-coding_Transcript|DNASE1L1_uc004fks.1_Silent_p.Y162Y|DNASE1L1_uc004fkt.1_Silent_p.Y162Y|DNASE1L1_uc004fku.1_Silent_p.Y162Y|DNASE1L1_uc004fkv.1_Silent_p.Y162Y|DNASE1L1_uc004fkw.1_Silent_p.Y162Y	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	0					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAAACACATCGTAGAGGGCGT	0.622													A	153631649	G	A	153631649	3	1	17	1	0	0	0	0	1	0	0	0	13645	1140	40	1		1	RPL10	23	153631649	Missense_Mutation	SNP	G	TCGA-06-0137-01A-01D-1490-08	1149149	153631649	1638911	99	1165											
WDR65	149465	broad.mit.edu	37	chr1	43651007	43651007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaaaaggatttttacCgtgagagcagagaaatcagg	16	8	13	4	1	1	3	1	1	0	3	1	7	1	5	1	3	2	1	1	3	5	3			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr1:43651007C>A	uc021omk.1	+	4	1095	c.949C>A	c.(949-951)Cgt>Agt	p.R317S	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R306S|WDR65_uc001ciq.2_Missense_Mutation_p.R317S|WDR65_uc001cip.2_Missense_Mutation_p.R317S	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	317										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGATTTTTACCGTGAGAGCAG	0.473													A	43651007	C	A	43651007	3	1	18	1	0	0	0	0	1	0	0	0	17418	652	23	4	963	4	WDR65	1	43651007	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08		43651007	205599614	1	1166											
PCDHB3	56132	broad.mit.edu	37	chr5	140480851	140480851	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatcgggaggagcagccGgaactcagcttaacgctcac	10	6	12	13	4	2	0	2	0	0	0	4	4	2	3	1	3	5	3	1	3	2	1			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140480851G>A	uc003lio.3	+	0	618	c.618G>A	c.(616-618)ccG>ccA	p.P206P	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	206	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.Q205Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGAGCAGCCGGAACTCAGCT	0.567													A	140480851	G	A	140480851	2	1	18	1	0	0	0	0	0	0	0	1	11619	1103	39	1		1	PCDHB3	5	140480851	Silent	SNP	G	TCGA-06-0139-01A-01D-1490-08		140480851	40434409	2	1167											
DIAPH1	1729	broad.mit.edu	37	chr5	140960406	140960406	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccatggctctgaccagCagtaggattccttcttctgt	7	13	10	11	0	3	1	0	1	3	0	5	3	5	3	3	3	1	3	3	3	1	4			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr5:140960406C>A	uc003llb.4	-	7	870	c.729G>T	c.(727-729)ctG>ctT	p.L243L	DIAPH1_uc003llc.4_Silent_p.L234L|DIAPH1_uc021yep.1_Silent_p.L243L|DIAPH1_uc021yeq.1_Silent_p.L234L	NM_005219	NP_005210	O60610	DIAP1_HUMAN	Homo sapiens diaphanous homolog 1 (Drosophila) (DIAPH1), transcript variant 1, mRNA.	243	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGACCAGCAGTAGGATTC	0.473													A	140960406	C	A	140960406	2	1	18	1	0	0	0	0	0	0	0	1	4557	697	25	4		4	DIAPH1	5	140960406	Silent	SNP	C	TCGA-06-0139-01A-01D-1490-08	479555	140960406	39954854	3	1168											
PRSS55	203074	broad.mit.edu	37	chr8	10387101	10387101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaggtgggtgagtttcCgtggcaggtgagtattcagg	6	10	20	5	2	1	2	1	2	0	0	2	3	2	3	1	7	0	3	1	7	1	3			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:10387101C>T	uc003wta.3	+	1	279	c.239C>T	c.(238-240)cCg>cTg	p.P80L	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.P80L|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	80	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGTGAGTTTCCGTGGCAGGTG	0.512													T	10387101	C	T	10387101	3	4	18	1	0	0	0	0	1	0	0	0	12719	652	23	1	245	1	PRSS55	8	10387101	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08		10387101	135976921	4	1169											
CYP7A1	1581	broad.mit.edu	37	chr8	59409488	59409488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctttctgtgtgtcccGccttgtaagatctctgccaa	6	15	9	11	1	2	1	0	0	2	1	4	1	3	1	3	0	2	2	3	0	2	3			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr8:59409488G>A	uc003xtm.4	-	2	646	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	195					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding	p.R195L(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGTGTGTCCCGCCTTGTAAGA	0.453									Neonatal Giant Cell Hepatitis				A	59409488	G	A	59409488	3	1	18	1	0	0	0	0	1	0	0	0	4229	1086	38	1	947	1	CYP7A1	8	59409488	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08	49022387	59409488	86954534	5	1170											
PSAT1	29968	broad.mit.edu	37	chr9	80921319	80921319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtgcatggtgtggagtttGactttatacccgatgtcaag	8	13	13	7	2	1	1	1	1	0	0	1	3	1	2	1	3	2	2	1	3	3	4			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921319G>A	uc004ala.3	+	4	555	c.487G>A	c.(487-489)Gac>Aac	p.D163N	PSAT1_uc004alb.3_Missense_Mutation_p.D163N	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	163					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGTGGAGTTTGACTTTATACC	0.463													A	80921319	G	A	80921319	3	1	18	1	0	0	0	0	1	0	0	0	12729	1290	45	2	505	2	PSAT1	9	80921319	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		80921319	60292112	6	1171			1	5		2	2	25	G		7.752717e-06
PSAT1	29968	broad.mit.edu	37	chr9	80921343	80921343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatacccgatgtcaagggaGcagtactggtttgtgacatg	10	12	12	7	1	1	1	1	1	0	0	1	3	1	2	1	2	3	3	1	2	4	4	rs115263053	by1000genomes	TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr9:80921343G>A	uc004ala.3	+	4	579	c.511G>A	c.(511-513)Gca>Aca	p.A171T	PSAT1_uc004alb.3_Missense_Mutation_p.A171T	NM_058179	NP_478059	Q9Y617	SERC_HUMAN	Homo sapiens phosphoserine aminotransferase 1 (PSAT1), transcript variant 1, mRNA.	171					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.G170*(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TGTCAAGGGAGCAGTACTGGT	0.498													A	80921343	G	A	80921343	3	1	18	1	0	0	0	0	1	0	0	0	12729	971	34	2	529	2	PSAT1	9	80921343	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08	24	80921343	60292088	7	1172			1	5		2	2	25	G		7.752717e-06
OR4F6	390648	broad.mit.edu	37	chr15	102346736	102346736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcttgataaattccttGccatctttgatgcagttatc	10	16	5	10	0	2	2	0	2	2	0	4	2	3	2	2	0	2	2	2	0	3	6			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr15:102346736G>A	uc010utr.2	+	0	814	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TAAATTCCTTGCCATCTTTGA	0.378													A	102346736	G	A	102346736	3	1	18	1	0	0	0	0	1	0	0	0	11142	1319	46	2	816	2	OR4F6	15	102346736	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		102346736	184656	8	1173											
TANC2	26115	broad.mit.edu	37	chr17	61391934	61391934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgggaaacattggattcGgcaaaactgccatcatctcc	11	11	9	10	1	2	0	1	0	1	0	4	2	2	2	2	3	3	1	2	3	3	3			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:61391934G>A	uc002jal.4	+	7	1146	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S	TANC2_uc010wpe.2_Missense_Mutation_p.G285S	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	375							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CATTGGATTCGGCAAAACTGC	0.507													A	61391934	G	A	61391934	3	1	18	1	0	0	0	0	1	0	0	0	15642	1116	39	1	1153	1	TANC2	17	61391934	Missense_Mutation	SNP	G	TCGA-06-0139-01A-01D-1490-08		61391934	19803276	9	1174											
EXOC7	23265	broad.mit.edu	37	chr17	74094004	74094004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaccactgatcagatcCaagatgagcacgggcgagac	12	6	11	12	3	2	5	2	2	0	3	4	6	3	5	2	1	1	1	2	1	1	0			TCGA-06-0139-01A-01D-1490-08	TCGA-06-0139-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c84ff17d-436d-49c1-aef2-b998ffe4a693	c739fdc7-b0df-4096-a7dd-50f519c9160f	g.chr17:74094004C>A	uc002jqs.3	-	4	608	c.513G>T	c.(511-513)ttG>ttT	p.L171F	EXOC7_uc010dgv.2_Missense_Mutation_p.L118F|EXOC7_uc010wsv.2_Missense_Mutation_p.L130F|EXOC7_uc010wsw.2_Missense_Mutation_p.L171F|EXOC7_uc002jqq.3_Missense_Mutation_p.L171F|EXOC7_uc010wsx.2_Missense_Mutation_p.L171F|EXOC7_uc002jqr.3_Missense_Mutation_p.L171F|EXOC7_uc002jqu.2_Missense_Mutation_p.L171F	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	171					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGATCAGATCCAAGATGAGCA	0.602													A	74094004	C	A	74094004	3	1	18	1	0	0	0	0	1	0	0	0	5351	593	21	4	1758	4	EXOC7	17	74094004	Missense_Mutation	SNP	C	TCGA-06-0139-01A-01D-1490-08	12702070	74094004	7101206	10	1175											
ABCA4	24	broad.mit.edu	37	chr1	94463458	94463458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgagtactcctcgatgaGcaggctgtccttgtgggaga	8	10	14	9	1	0	3	0	2	0	1	3	6	2	3	2	2	2	3	2	2	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:94463458G>A	uc001dqh.3	-	47	6792	c.6688C>T	c.(6688-6690)Ctc>Ttc	p.L2230F		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2230					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCCTCGATGAGCAGGCTGTCC	0.592													A	94463458	G	A	94463458	3	1	19	1	0	0	0	0	1	0	0	0	34	971	34	2	145	2	ABCA4	1	94463458	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		94463458	154787163	1	1176											
OPTC	26254	broad.mit.edu	37	chr1	203472741	203472741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggagcacaaacacaccCgcaggcagctggaagacatc	14	2	11	14	2	0	1	0	0	0	1	1	4	0	3	2	3	3	4	2	3	2	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:203472741C>T	uc001gzu.1	+	6	1008	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	298						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CAAACACACCCGCAGGCAGCT	0.587													T	203472741	C	T	203472741	3	4	19	1	0	0	0	0	1	0	0	0	10964	652	23	1	914	1	OPTC	1	203472741	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	109009283	203472741	45777880	2	1177											
PIGR	5284	broad.mit.edu	37	chr1	207109154	207109154	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtggggctgcggggaAtcgtggactctggaagcaca	9	6	16	10	2	1	0	0	0	1	0	2	3	1	3	1	6	2	2	1	6	2	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr1:207109154A>T	uc001hez.3	-	4	1239	c.1055T>A	c.(1054-1056)aTt>aAt	p.I352N	PIGR_uc009xbz.3_Missense_Mutation_p.I352N	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	352	Ig-like V-type 3.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGCGGGGAATCGTGGACTC	0.602											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	207109154	A	T	207109154	3	4	19	1	0	0	0	0	1	0	0	0	11974	101	4	5	1267	5	PIGR	1	207109154	Missense_Mutation	SNP	A	TCGA-06-0140-01A-01D-1490-08	3636413	207109154	42141467	3	1178											
NBAS	51594	broad.mit.edu	37	chr2	15493765	15493765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagccatgagctcttgaCgagtggccaagtcctggtaa	12	8	11	10	1	1	2	0	2	1	0	2	3	2	2	3	2	2	2	3	2	4	2	rs140188229		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:15493765C>T	uc002rcc.1	-	33	4027	c.4001G>A	c.(4000-4002)cGt>cAt	p.R1334H	NBAS_uc010exl.1_Missense_Mutation_p.R406H|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1334										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAGCTCTTGACGAGTGGCCAA	0.453													T	15493765	C	T	15493765	3	4	19	1	0	0	0	0	1	0	0	0	10262	536	19	1	3190	1	NBAS	2	15493765	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		15493765	227705608	4	1179											
CYP26B1	56603	broad.mit.edu	37	chr2	72360330	72360330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcccgcagctcatccCgcagcttctccagcacagtg	8	7	9	17	2	2	1	1	1	1	0	4	1	3	1	3	0	4	5	3	0	0	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:72360330C>T	uc002sih.1	-	4	968	c.968G>A	c.(967-969)cGg>cAg	p.R323Q	CYP26B1_uc010yra.1_Missense_Mutation_p.R306Q|CYP26B1_uc010yrb.1_Missense_Mutation_p.R248Q	NM_019885	NP_063938	Q9NR63	CP26B_HUMAN	Homo sapiens cytochrome P450, family 26, subfamily B, polypeptide 1 (CYP26B1), mRNA.	323					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGCTCATCCCGCAGCTTCTC	0.657													T	72360330	C	T	72360330	3	4	19	1	0	0	0	0	1	0	0	0	4189	652	23	1	578	1	CYP26B1	2	72360330	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	56866565	72360330	170839043	5	1180											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460088	107460088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actttgagattttctccccaCctgggatgaaaaaaactctt	12	13	6	10	0	2	2	0	2	2	1	3	4	2	3	3	1	1	0	3	1	3	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:107460088C>T	uc002tdq.3	-	1	465	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ST6GAL2_uc002tdr.3_Missense_Mutation_p.V116M|ST6GAL2_uc002tds.3_Missense_Mutation_p.V116M	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	116					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTTCTCCCCACCTGGGATGAA	0.547													T	107460088	C	T	107460088	3	4	19	1	0	0	0	0	1	0	0	0	15318	507	18	2	1350	2	ST6GAL2	2	107460088	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	35099758	107460088	135739285	6	1181											
ACTR3	10096	broad.mit.edu	37	chr2	114691915	114691915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagaacggacgttgacCggtacggtaatagacagtgg	12	7	16	6	4	0	3	0	1	0	2	0	5	0	4	1	5	2	4	1	5	5	5			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:114691915C>T	uc002tkx.1	+	5	812	c.492C>T	c.(490-492)acC>acT	p.T164T	ACTR3_uc010yyc.1_Silent_p.T102T|ACTR3_uc010yyd.1_Silent_p.T113T	NM_005721	NP_005712	P61158	ARP3_HUMAN	Homo sapiens ARP3 actin-related protein 3 homolog (yeast) (ACTR3), mRNA.	164					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						GGACGTTGACCGGTACGGTAA	0.418													T	114691915	C	T	114691915	2	4	19	1	0	0	0	0	0	0	0	1	212	639	23	1		1	ACTR3	2	114691915	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	7231827	114691915	128507458	7	1182											
PRPF40A	55660	broad.mit.edu	37	chr2	153515685	153515685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctttgaatggctatcatCatcatctgaatctgacccct	9	16	5	11	0	6	3	3	3	3	0	6	3	6	3	2	1	0	1	2	1	3	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:153515685C>T	uc002tyh.4	-	22	2450	c.2428G>A	c.(2428-2430)Gat>Aat	p.D810N	PRPF40A_uc002tyg.4_Missense_Mutation_p.D266N|PRPF40A_uc010zcd.1_Missense_Mutation_p.D761N	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	837					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TGGCTATCATCATCATCTGAA	0.343													T	153515685	C	T	153515685	3	4	19	1	0	0	0	0	1	0	0	0	12657	826	29	2	380	2	PRPF40A	2	153515685	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	38823770	153515685	89683688	8	1183											
STK11IP	114790	broad.mit.edu	37	chr2	220476376	220476376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccacgtggttctcctcGctgtgtctcggggaaccccc	4	10	12	15	3	2	1	0	1	2	0	5	2	2	2	4	3	1	2	4	3	1	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:220476376G>A	uc002vml.3	+	17	2231	c.2188G>A	c.(2188-2190)Gct>Act	p.A730T		NM_052902	NP_443134	Q8N1F8	S11IP_HUMAN	Homo sapiens serine/threonine kinase 11 interacting protein (STK11IP), mRNA.	730					protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTTCTCCTCGCTGTGTCTCG	0.627													A	220476376	G	A	220476376	3	1	19	1	0	0	0	0	1	0	0	0	15384	1087	38	1	2258	1	STK11IP	2	220476376	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	66960691	220476376	22722997	9	1184											
SCG2	7857	broad.mit.edu	37	chr2	224462380	224462380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatggcctgctcaatttgttCctcttcctgcaggtcatctt	5	16	8	12	0	4	0	2	0	2	0	6	1	6	0	3	2	2	3	3	2	1	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:224462380C>T	uc021vxk.1	-	0	1621	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	SCG2_uc002vnm.3_Missense_Mutation_p.E541K	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	541					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCAATTTGTTCCTCTTCCTGC	0.507													T	224462380	C	T	224462380	3	4	19	1	0	0	0	0	1	0	0	0	13983	864	30	2	236	2	SCG2	2	224462380	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	3986004	224462380	18736993	10	1185											
MLPH	79083	broad.mit.edu	37	chr2	238449110	238449110	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtccgaggaggaggaagcCaaggacgaaaaggcagagcc	14	2	16	9	3	0	1	0	0	0	1	2	7	1	5	3	5	2	1	3	5	4	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr2:238449110C>A	uc002vwt.3	+	9	1451	c.1224C>A	c.(1222-1224)gcC>gcA	p.A408A	MLPH_uc002vws.3_Silent_p.A265A|MLPH_uc010fyt.1_Silent_p.A380A|MLPH_uc002vwu.3_Silent_p.A380A|MLPH_uc002vwv.3_Silent_p.A340A|MLPH_uc002vww.3_Silent_p.A356A|MLPH_uc002vwx.3_Silent_p.A264A	NM_024101	NP_077006	Q9BV36	MELPH_HUMAN	Homo sapiens melanophilin (MLPH), transcript variant 1, mRNA.	408							metal ion binding	p.E407E(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		AGGAGGAAGCCAAGGACGAAA	0.627													A	238449110	C	A	238449110	2	1	19	1	0	0	0	0	0	0	0	1	9708	581	21	4		4	MLPH	2	238449110	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	13986730	238449110	4750263	11	1186											
PLA1A	51365	broad.mit.edu	37	chr3	119316815	119316815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggcctcattttgtggCtcagcgttggaagttcaggt	5	13	16	7	1	3	0	3	0	0	0	3	1	3	1	1	6	1	3	1	6	1	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:119316815C>G	uc003ecu.3	+	0	121	c.55C>G	c.(55-57)Ctc>Gtc	p.L19V	PLA1A_uc003ecv.3_Missense_Mutation_p.L19V|PLA1A_uc011bjc.2_5'UTR|PLA1A_uc003ecw.3_Non-coding_Transcript	NM_015900	NP_001193890	Q53H76	PLA1A_HUMAN	Homo sapiens phospholipase A1 member A (PLA1A), transcript variant 1, mRNA.	19					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CATTTTGTGGCTCAGCGTTGG	0.507													G	119316815	C	G	119316815	3	3	19	1	0	0	0	0	1	0	0	0	12065	797	28	4	57	4	PLA1A	3	119316815	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		119316815	78705615	12	1187											
MRPL3	11222	broad.mit.edu	37	chr3	131190114	131190114	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatgacaccttgaaaaccTttaccaatactgaacaaaac	17	10	3	11	0	1	3	1	3	0	0	1	3	1	3	3	0	5	0	3	0	8	5			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr3:131190114T>C	uc011blp.2	-	7	915	c.720A>G	c.(718-720)aaA>aaG	p.K240K	MRPL3_uc011blo.2_Silent_p.K108K|MRPL3_uc003eoh.3_Silent_p.K213K	NM_007208	NP_009139	P09001	RM03_HUMAN	Homo sapiens mitochondrial ribosomal protein L3 (MRPL3), nuclear gene encoding mitochondrial protein, mRNA.	213					translation	mitochondrial large ribosomal subunit	RNA binding|structural constituent of ribosome			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	10						CTTGAAAACCTTTACCAATAC	0.408													C	131190114	T	C	131190114	2	2	19	1	0	0	0	0	0	0	0	1	9869	1606	56	3		3	MRPL3	3	131190114	Silent	SNP	T	TCGA-06-0140-01A-01D-1490-08	11873299	131190114	66832316	13	1188											
RASSF6	166824	broad.mit.edu	37	chr4	74442417	74442417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaggagcctctgcagtagCggaatgtctgtcttctttag	7	14	12	8	1	4	0	0	0	4	0	4	2	4	2	1	2	3	3	1	2	4	5	rs147932445	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:74442417C>T	uc003hhd.1	-	8	972	c.849G>A	c.(847-849)ccG>ccA	p.P283P	RASSF6_uc003hhc.1_Silent_p.P251P|RASSF6_uc010iik.1_Silent_p.P217P|RASSF6_uc010iil.1_Silent_p.P239P	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	283	Ras-associating.				apoptosis|signal transduction		protein binding	p.P283Q(1)|p.I282I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TCTGCAGTAGCGGAATGTCTG	0.403													T	74442417	C	T	74442417	2	4	19	1	0	0	0	0	0	0	0	1	13178	755	27	1		1	RASSF6	4	74442417	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08		74442417	116711859	14	1189											
DSPP	1834	broad.mit.edu	37	chr4	88534401	88534401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatagagaaagcaaacgcGtagaaaatagaatcaccaaa	22	4	7	8	2	1	3	1	0	0	3	1	4	1	3	2	0	2	2	2	0	9	3	rs61738515	by1000genomes	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:88534401G>A	uc003hqu.3	+	3	1183	c.1063G>A	c.(1063-1065)Gta>Ata	p.V355I		NM_014208	NP_055023	Q9NZW4	DSPP_HUMAN	Homo sapiens dentin sialophosphoprotein (DSPP), mRNA.	355					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent	p.R354H(1)		breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		AAGCAAACGCGTAGAAAATAG	0.418													A	88534401	G	A	88534401	3	1	19	1	0	0	0	0	1	0	0	0	4821	1145	40	1	1073	1	DSPP	4	88534401	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	14091984	88534401	102619875	15	1190											
GYPE	2996	broad.mit.edu	37	chr4	144826671	144826671	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatacatcctgagatcaCgagctggctcctgaagttag	10	11	9	11	1	1	2	1	2	0	1	4	4	4	2	3	1	2	3	3	1	3	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:144826671C>T	uc003ijj.3	-	0					GYPE_uc003ijk.4_5'UTR	NM_198682	NP_941391	P15421	GLPE_HUMAN	Homo sapiens glycophorin E (MNS blood group) (GYPE), transcript variant 2, mRNA.							integral to plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_hematologic(180;0.158)					CCTGAGATCACGAGCTGGCTC	0.398													T	144826671	C	T	144826671	1	4	19	1	0	0	0	0	0	0	0	0	6966	551	19	1		1	GYPE	4	144826671	Translation_Start_Site	SNP	C	TCGA-06-0140-01A-01D-1490-08	56292270	144826671	46327605	16	1191											
TRIM2	23321	broad.mit.edu	37	chr4	154215581	154215581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccagaagactttaaatGtgcgcaagagtgtgctgctt	11	11	11	8	1	0	3	0	0	0	3	1	3	1	3	1	0	4	4	1	0	4	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr4:154215581G>A	uc003inh.2	+	4	815	c.730G>A	c.(730-732)Gtg>Atg	p.V244M	TRIM2_uc003ing.2_Missense_Mutation_p.V217M	NM_015271	NP_056086	Q9C040	TRIM2_HUMAN	Homo sapiens tripartite motif containing 2 (TRIM2), transcript variant 1, mRNA.	217						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		GACTTTAAATGTGCGCAAGAG	0.418													A	154215581	G	A	154215581	3	1	19	1	0	0	0	0	1	0	0	0	16595	1377	48	2	748	2	TRIM2	4	154215581	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	9388910	154215581	36938695	17	1192											
IL7R	3575	broad.mit.edu	37	chr5	35876389	35876389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctagactgcagggagagtgGcaagaatgggcctcatgtgt	10	8	15	8	0	1	3	1	0	0	3	1	4	1	3	2	3	1	2	2	3	3	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:35876389G>A	uc003jjs.3	+	7	1270	c.1181G>A	c.(1180-1182)gGc>gAc	p.G394D	IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	394					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			AGGGAGAGTGGCAAGAATGGG	0.537			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						A	35876389	G	A	35876389	3	1	19	1	0	0	0	0	1	0	0	0	7763	1203	42	2	1211	2	IL7R	5	35876389	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		35876389	145038871	18	1193											
UTP15	84135	broad.mit.edu	37	chr5	72864347	72864347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagatggtagattgcttGtggctggcagtgaagatggt	10	11	16	4	0	0	4	0	1	0	3	0	5	0	4	0	4	1	4	0	4	3	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:72864347G>A	uc003kcw.1	+	3	509	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	UTP15_uc011cso.1_Missense_Mutation_p.V77M|UTP15_uc011csp.1_5'UTR|UTP15_uc010ize.1_Missense_Mutation_p.V96M|ANKRA2_uc003kcu.2_5'Flank	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	96					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		TAGATTGCTTGTGGCTGGCAG	0.428													A	72864347	G	A	72864347	3	1	19	1	0	0	0	0	1	0	0	0	17199	1377	48	2	296	2	UTP15	5	72864347	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	36987958	72864347	108050913	19	1194											
GRIA1	2890	broad.mit.edu	37	chr5	153190767	153190767	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagttcagggatgcccttGggagccacgggattgtaact	9	9	13	10	1	1	0	1	0	0	0	1	3	1	3	2	3	3	2	2	3	1	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr5:153190767G>A	uc011dcy.2	+	15	2760	c.2733G>A	c.(2731-2733)ttG>ttA	p.L911L	GRIA1_uc003lva.4_Silent_p.L901L|GRIA1_uc003luy.4_Silent_p.L901L|GRIA1_uc003luz.4_Silent_p.L806L|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.L821L|GRIA1_uc011dcx.2_Silent_p.L832L|GRIA1_uc011dcz.2_Silent_p.L911L	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	901					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGATGCCCTTGGGAGCCACGG	0.592													A	153190767	G	A	153190767	2	1	19	1	0	0	0	0	0	0	0	1	6822	1339	47	2		2	GRIA1	5	153190767	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08	80326420	153190767	27724493	20	1195											
IRF4	3662	broad.mit.edu	37	chr6	398928	398928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtctgccgaagccttggcGttctcaggtgagtgcagggt	6	10	16	9	2	2	1	1	1	2	0	3	2	2	1	2	4	3	2	2	4	1	2	rs144395675		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:398928G>A	uc003msz.4	+	5	864	c.738G>A	c.(736-738)gcG>gcA	p.A246A	IRF4_uc010jne.2_Silent_p.A246A|IRF4_uc003mtb.4_Silent_p.A245A|IRF4_uc021ykl.1_Silent_p.A92A|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Silent_p.A76A	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	246					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGCCTTGGCGTTCTCAGGTG	0.592			T	IGH@	MM								A	398928	G	A	398928	2	1	19	1	0	0	0	0	0	0	0	1	7890	1132	40	1		1	IRF4	6	398928	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		398928	170716139	21	1196											
ECT2L	345930	broad.mit.edu	37	chr6	139208055	139208055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagaatcatctggggatGccctgtatgtattcttagga	11	12	11	7	0	3	1	1	0	2	1	3	4	3	3	1	3	1	2	1	3	4	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr6:139208055G>A	uc003qif.2	+	18	2646	c.2321G>A	c.(2320-2322)tGc>tAc	p.C774Y	ECT2L_uc021zfx.1_Missense_Mutation_p.C774Y|ECT2L_uc011edq.1_Missense_Mutation_p.C628Y	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	774					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATCTGGGGATGCCCTGTATGT	0.393			"N, Splice, Mis"		ETP ALL								A	139208055	G	A	139208055	3	1	19	1	0	0	0	0	1	0	0	0	4941	1319	46	2	2387	2	ECT2L	6	139208055	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	138809127	139208055	31907012	22	1197											
MAD1L1	8379	broad.mit.edu	37	chr7	1855850	1855850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagctgcatcttggaaccCgaggggctggtggcctgcgg	6	8	17	10	2	1	0	0	0	1	0	1	2	1	1	2	6	4	4	2	6	2	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:1855850C>T	uc003slh.1	-	18	2279	c.2013G>A	c.(2011-2013)tcG>tcA	p.S671S	MAD1L1_uc003sle.1_Silent_p.S400S|MAD1L1_uc003slf.1_Silent_p.S671S|MAD1L1_uc003slg.1_Silent_p.S671S|MAD1L1_uc010ksh.1_Silent_p.S671S|MAD1L1_uc003sli.1_Silent_p.S579S|MAD1L1_uc003sld.1_Silent_p.S127S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	671					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCTTGGAACCCGAGGGGCTGG	0.642													T	1855850	C	T	1855850	2	4	19	1	0	0	0	0	0	0	0	1	9218	639	23	1		1	MAD1L1	7	1855850	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08		1855850	157282813	23	1198											
ELN	2006	broad.mit.edu	37	chr7	73457353	73457353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaggagttggtggcttagGagtgtctgcaggtacgatgg	7	10	17	7	1	1	0	0	0	1	0	1	3	1	2	1	6	2	4	1	6	2	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73457353G>A	uc003tzw.3	+	6	456	c.365G>A	c.(364-366)gGa>gAa	p.G122E	ELN_uc003tzm.1_Intron|ELN_uc003tzn.3_Missense_Mutation_p.G122E|ELN_uc003tzy.3_Missense_Mutation_p.G112E|ELN_uc003tzz.3_Missense_Mutation_p.G110E|ELN_uc003tzo.3_Missense_Mutation_p.G122E|ELN_uc003tzp.3_Missense_Mutation_p.G112E|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Non-coding_Transcript|ELN_uc003tzs.3_Missense_Mutation_p.G122E|ELN_uc003tzt.3_Missense_Mutation_p.G122E|ELN_uc003tzu.3_Missense_Mutation_p.G122E|ELN_uc003tzv.3_Missense_Mutation_p.G112E|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.G112E|ELN_uc011kff.2_Missense_Mutation_p.G122E	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	122					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GGTGGCTTAGGAGTGTCTGCA	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						A	73457353	G	A	73457353	3	1	19	1	0	0	0	0	1	0	0	0	5112	1174	41	2	391	2	ELN	7	73457353	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	71601503	73457353	85681310	24	1199											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73922465	73922465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacggctgcggacccgacCgctggaactccgcgttcacc	7	5	11	18	6	1	0	1	0	0	0	2	3	2	2	5	3	3	3	5	3	2	1	rs139144176		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:73922465C>T	uc003uaq.3	+	1	448	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	GTF2IRD1_uc010lbq.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uap.3_Missense_Mutation_p.R19C|GTF2IRD1_uc003uar.1_Missense_Mutation_p.R19C	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	19						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CGGACCCGACCGCTGGAACTC	0.642													T	73922465	C	T	73922465	3	4	19	1	0	0	0	0	1	0	0	0	6923	652	23	1	57	1	GTF2IRD1	7	73922465	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	465112	73922465	85216198	25	1200											
NPTX2	4885	broad.mit.edu	37	chr7	98257925	98257925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagacgtgtgaggagcGtctccttgacttgtagccgc	6	10	15	10	4	1	3	0	2	1	1	2	5	1	4	2	2	2	1	2	2	1	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:98257925G>A	uc003upl.2	+	4	1457	c.1280G>A	c.(1279-1281)cGt>cAt	p.R427H		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	427	Pentaxin.			R -> A (in Ref. 1; AAA68980/AAA92296).	synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGTGAGGAGCGTCTCCTTGAC	0.582													A	98257925	G	A	98257925	3	1	19	1	0	0	0	0	1	0	0	0	10679	1145	40	1	1298	1	NPTX2	7	98257925	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	24335460	98257925	60880738	26	1201											
AZGP1	563	broad.mit.edu	37	chr7	99564820	99564820	+	Frame_Shift_Del	DEL	T	T	-																															ccgagtccagtgcacatcaaTtttccctgggtagaagtcgt																										TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:99564820delT	uc003ush.3	-	3	795	c.703delA	c.(703-705)attfs	p.I235fs		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	235	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TGCACATCAATTTTCCCTGGG	0.567													-	99564820	T	-	99564820	7	5	19	1	0	1	0	1	0	0	0	0	1244	1493	52	0	197	0	AZGP1	7	99564820	Frame_Shift_Del	DEL	T	TCGA-06-0140-01A-01D-1490-08	1306895	99564820	59573843	27	1202											
REPIN1	29803	broad.mit.edu	37	chr7	150068350	150068350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgctggaacgtcgttgcaGgggccccctggccatgggcc	5	7	16	13	2	0	0	0	0	0	0	1	2	0	1	4	5	3	3	4	5	1	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr7:150068350G>A	uc010lpr.1	+	2	384	c.191G>A	c.(190-192)aGg>aAg	p.R64K	REPIN1_uc003whd.2_5'UTR|REPIN1_uc010lpq.1_Missense_Mutation_p.R7K|REPIN1_uc003whc.2_Missense_Mutation_p.R7K|REPIN1_uc003whe.2_Missense_Mutation_p.R7K	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	7					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CGTCGTTGCAGGGGCCCCCTG	0.647													A	150068350	G	A	150068350	3	1	19	1	0	0	0	0	1	0	0	0	13315	1000	35	2	197	2	REPIN1	7	150068350	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	50503530	150068350	9070313	28	1203											
C9orf96	169436	broad.mit.edu	37	chr9	136260823	136260823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagcagatcccggatGtggaaaccttcaggaatctt	13	8	12	8	1	2	2	1	0	1	2	3	6	3	5	2	4	2	1	2	4	3	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr9:136260823G>T	uc004cdk.3	+	8	860	c.799G>T	c.(799-801)Gtg>Ttg	p.V267L	C9orf96_uc004cdl.3_Non-coding_Transcript	NM_153710	NP_714921	Q8NE28	SGK71_HUMAN	Homo sapiens chromosome 9 open reading frame 96 (C9orf96), mRNA.	267	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GATCCCGGATGTGGAAACCTT	0.552													T	136260823	G	T	136260823	3	4	19	1	0	0	0	0	1	0	0	0	2534	1377	48	4	833	4	C9orf96	9	136260823	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		136260823	4952608	29	1204											
SLC18A2	6571	broad.mit.edu	37	chr10	119003545	119003545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctacagaaatccagaCggccaggccagtgcacactg	13	5	11	12	1	0	2	0	0	0	2	1	3	1	2	3	2	3	2	3	2	3	1	rs140529367		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:119003545C>T	uc001ldd.2	+	2	348	c.185C>T	c.(184-186)aCg>aTg	p.T62M	SLC18A2_uc009xyy.2_5'UTR	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	62					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GAAATCCAGACGGCCAGGCCA	0.493													T	119003545	C	T	119003545	3	4	19	1	0	0	0	0	1	0	0	0	14520	536	19	1	191	1	SLC18A2	10	119003545	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		119003545	16531202	30	1205											
CLRN3	119467	broad.mit.edu	37	chr10	129682096	129682096	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaacaggatagtcacCgaatgcagagttttttggga	13	9	12	7	1	1	1	1	0	0	1	1	5	1	4	2	3	2	2	2	3	3	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr10:129682096C>T	uc001lka.1	-	1	436	c.273G>A	c.(271-273)tcG>tcA	p.S91S	CLRN3_uc001ljz.1_Silent_p.S23S	NM_152311	NP_689524	Q8NCR9	CLRN3_HUMAN	Homo sapiens clarin 3 (CLRN3), mRNA.	91						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				GGATAGTCACCGAATGCAGAG	0.448													T	129682096	C	T	129682096	2	4	19	1	0	0	0	0	0	0	0	1	3590	639	23	1		1	CLRN3	10	129682096	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	10678551	129682096	5852651	31	1206											
OR51G1	79324	broad.mit.edu	37	chr11	4945520	4945520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctagaccttggaagcccGtcaggaagaaagtggctctt	10	10	11	10	1	3	2	1	0	2	2	3	4	3	4	2	3	1	1	2	3	4	4			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4945520G>A	uc010qyr.2	-	0	50	c.50C>T	c.(49-51)aCg>aTg	p.T17M		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGAAGCCCGTCAGGAAGAA	0.458													A	4945520	G	A	4945520	3	1	19	1	0	0	0	0	1	0	0	0	11174	1145	40	1	917	1	OR51G1	11	4945520	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		4945520	130060996	32	1207											
OR51A2	401667	broad.mit.edu	37	chr11	4976936	4976936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacatatgatgtgttgataAtggacatgattcattcatag	14	14	8	5	0	2	3	2	3	0	0	2	4	2	4	0	1	1	1	0	1	4	6			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:4976936A>G	uc010qyt.2	-	0	8	c.8T>C	c.(7-9)aTt>aCt	p.I3T		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	3					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTGTTGATAATGGACATGAT	0.428													G	4976936	A	G	4976936	3	3	19	1	0	0	0	0	1	0	0	0	11162	101	4	3	935	3	OR51A2	11	4976936	Missense_Mutation	SNP	A	TCGA-06-0140-01A-01D-1490-08	31416	4976936	130029580	33	1208											
MS4A7	58475	broad.mit.edu	37	chr11	60161321	60161321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaaaaagagttcttcacGgtcttggatataagtaactc	13	12	9	7	1	4	1	2	0	2	1	5	2	4	2	0	3	1	2	0	3	5	6			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:60161321G>A	uc001npe.3	+	6	855	c.710G>A	c.(709-711)cGg>cAg	p.R237Q	MS4A7_uc001npf.3_Missense_Mutation_p.R237Q|MS4A7_uc001npg.3_Missense_Mutation_p.R192Q|MS4A7_uc001nph.3_Missense_Mutation_p.R192Q|MS4A14_uc001npi.3_Intron	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	237						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						AGTTCTTCACGGTCTTGGATA	0.373													A	60161321	G	A	60161321	3	1	19	1	0	0	0	0	1	0	0	0	9942	1116	39	1	732	1	MS4A7	11	60161321	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	55184385	60161321	74845195	34	1209											
VWCE	220001	broad.mit.edu	37	chr11	61032003	61032003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaagcagggcagggtcgGcacaggcccgctggcaggga	9	2	19	11	2	0	0	0	0	0	0	1	2	0	2	1	7	1	5	1	7	1	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:61032003G>A	uc001nra.3	-	18	2465	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	729	VWFC 6.					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GGCAGGGTCGGCACAGGCCCG	0.592													A	61032003	G	A	61032003	3	1	19	1	0	0	0	0	1	0	0	0	17347	1203	42	2	689	2	VWCE	11	61032003	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	870682	61032003	73974513	35	1210											
HTR3A	3359	broad.mit.edu	37	chr11	113857684	113857684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggttctggagagaatcGcctggctactttgcctgagg	7	11	13	10	1	1	2	0	1	1	1	2	4	1	3	3	4	2	2	3	4	2	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr11:113857684G>A	uc010rxb.2	+	6	1401	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	HTR3A_uc010rxa.2_Missense_Mutation_p.A358T|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.A337T	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	352					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.A384T(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GGAGAGAATCGCCTGGCTACT	0.587													A	113857684	G	A	113857684	3	1	19	1	0	0	0	0	1	0	0	0	7502	1087	38	1	1220	1	HTR3A	11	113857684	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	52825681	113857684	21148832	36	1211											
C12orf51	283450	broad.mit.edu	37	chr12	112721040	112721040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaatgcttttggcagattCgccctcttttctcattagaa	9	17	6	9	1	2	2	1	0	2	2	4	2	2	2	1	1	1	2	1	1	3	7			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr12:112721040C>T	uc021reb.1	-	7	1366	c.970G>A	c.(970-972)Gaa>Aaa	p.E324K		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TTGGCAGATTCGCCCTCTTTT	0.433													T	112721040	C	T	112721040	3	4	19	1	0	0	0	0	1	0	0	0	1709	893	31	1	12042	1	C12orf51	12	112721040	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		112721040	21130855	37	1212											
RB1	5925	broad.mit.edu	37	chr13	48951144	48951144	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgctaaagctgtgggaCagggttgtgtcgaaattgga	11	12	14	4	1	0	0	0	0	0	0	1	3	0	2	0	3	2	3	0	3	4	4	rs4151534		TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr13:48951144C>T	uc001vcb.3	+	12	1472	c.1306C>T	c.(1306-1308)Cag>Tag	p.Q436*	RB1_uc010act.1_Nonsense_Mutation_p.Q137*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	436	Domain A.|Pocket; binds T and E1A.		Q -> K (in dbSNP:rs4151534).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.G435*(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCTGTGGGACAGGGTTGTGT	0.353		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48951144	C	T	48951144	4	4	19	1	0	0	0	0	0	1	0	0	13186	479	17	2	1356	2	RB1	13	48951144	Nonsense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		48951144	66218734	38	1213											
ATP10A	57194	broad.mit.edu	37	chr15	25925003	25925003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgagtccttcgggaggcGtccctgagcaaaggtctctt	6	10	12	13	3	1	1	0	1	1	0	6	3	4	2	3	3	1	1	3	3	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:25925003G>A	uc010ayu.3	-	20	4091	c.3985C>T	c.(3985-3987)Cgc>Tgc	p.R1329C		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1329					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTCGGGAGGCGTCCCTGAGCA	0.607													A	25925003	G	A	25925003	3	1	19	1	0	0	0	0	1	0	0	0	1121	1145	40	1	518	1	ATP10A	15	25925003	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		25925003	76606389	39	1214											
RASGRP1	10125	broad.mit.edu	37	chr15	38818585	38818585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcaacagttggttacttcGacacaggtttccatctgcat	9	14	8	10	1	1	0	0	0	1	0	3	1	2	0	1	2	4	5	1	2	2	5			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr15:38818585G>A	uc001zke.4	-	2	419	c.241C>T	c.(241-243)Cga>Tga	p.R81*	RASGRP1_uc001zkd.4_Nonsense_Mutation_p.R81*	NM_005739	NP_005730	O95267	GRP1_HUMAN	Homo sapiens RAS guanyl releasing protein 1 (calcium and DAG-regulated) (RASGRP1), transcript variant 1, mRNA.	81	N-terminal Ras-GEF.|Ras exchanger motif region; required for transforming activity (By similarity).				cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TGGTTACTTCGACACAGGTTT	0.458													A	38818585	G	A	38818585	4	1	19	1	0	0	0	0	0	1	0	0	13162	1066	37	1	2212	1	RASGRP1	15	38818585	Nonsense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	12893582	38818585	63712807	40	1215											
FAM86A	196483	broad.mit.edu	37	chr16	5143514	5143514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttctgagagaaagcaccGggcatatttgacggacggcg	11	7	15	8	4	1	3	0	2	1	1	1	6	1	4	1	3	1	3	1	3	2	3			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:5143514G>A	uc002cyo.2	-	2	260	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	FAM86A_uc002cyp.2_Missense_Mutation_p.R71W	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	71								p.A70P(1)		endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						AGAAAGCACCGGGCATATTTG	0.562													A	5143514	G	A	5143514	3	1	19	1	0	0	0	0	1	0	0	0	5693	1115	39	1	805	1	FAM86A	16	5143514	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		5143514	85211239	41	1216											
DNAH3	55567	broad.mit.edu	37	chr16	20976074	20976074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttatgggatcccctaaCgtgtggctgagactgaagtc	9	13	11	8	1	0	2	0	2	0	1	2	4	1	3	2	2	1	1	2	2	3	4	rs149630157	byFrequency	TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:20976074C>T	uc010vbe.2	-	52	9132	c.9132G>A	c.(9130-9132)acG>acA	p.T3044T	DNAH3_uc010vbd.2_Silent_p.T479T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3044					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GATCCCCTAACGTGTGGCTGA	0.498													T	20976074	C	T	20976074	2	4	19	1	0	0	0	0	0	0	0	1	4642	523	19	1		1	DNAH3	16	20976074	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	15832560	20976074	69378679	42	1217											
KIFC3	3801	broad.mit.edu	37	chr16	57794781	57794781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgacagcgacttgttgaTgtgctgcgcctcccgcaggc	6	8	13	14	4	0	1	0	1	0	0	1	3	1	1	3	1	4	3	3	1	0	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:57794781T>C	uc002emq.3	-	15	2286	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	KIFC3_uc010vhw.2_Missense_Mutation_p.I595V|KIFC3_uc002emn.3_Non-coding_Transcript|KIFC3_uc002emm.3_Missense_Mutation_p.I558V|KIFC3_uc010vhx.2_Missense_Mutation_p.I555V|KIFC3_uc010cdf.3_Missense_Mutation_p.I558V|KIFC3_uc002emo.4_Missense_Mutation_p.I558V|KIFC3_uc010vhy.2_Missense_Mutation_p.I639V|KIFC3_uc002emp.3_Missense_Mutation_p.I697V|KIFC3_uc010vhz.2_Missense_Mutation_p.I719V	NM_001130100	NP_001123571	Q9BVG8	KIFC3_HUMAN	Homo sapiens kinesin family member C3 (KIFC3), transcript variant 2, mRNA.	697	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GACTTGTTGATGTGCTGCGCC	0.682													C	57794781	T	C	57794781	3	2	19	1	0	0	0	0	1	0	0	0	8372	1464	51	3	437	3	KIFC3	16	57794781	Missense_Mutation	SNP	T	TCGA-06-0140-01A-01D-1490-08	36818707	57794781	32559972	43	1218											
CHST6	4166	broad.mit.edu	37	chr16	75513386	75513386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtcggacaggttgcggCgccaaggcagataggcatca	11	5	16	9	3	1	2	1	0	0	2	2	3	1	3	1	6	1	3	1	6	2	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:75513386C>T	uc021tlj.1	-	0	341	c.341G>A	c.(340-342)cGc>cAc	p.R114H	CHST6_uc002fef.3_Missense_Mutation_p.R114H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R114H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	114					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGGTTGCGGCGCCAAGGCAG	0.672													T	75513386	C	T	75513386	3	4	19	1	0	0	0	0	1	0	0	0	3438	768	27	1	850	1	CHST6	16	75513386	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	17718605	75513386	14841367	44	1219											
ADAMTS18	170692	broad.mit.edu	37	chr16	77355016	77355016	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtacaggcctttataaaaCttgcaagttgaattatcacc	14	12	7	8	0	1	1	1	1	0	0	1	1	1	1	2	2	3	3	2	2	7	7			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr16:77355016C>G	uc002ffc.4	-	14	2666	c.2247G>C	c.(2245-2247)aaG>aaC	p.K749N	ADAMTS18_uc010chc.1_Missense_Mutation_p.K337N|ADAMTS18_uc002ffe.1_Missense_Mutation_p.K445N	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	749	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						CTTTATAAAACTTGCAAGTTG	0.383													G	77355016	C	G	77355016	3	3	19	1	0	0	0	0	1	0	0	0	263	564	20	4	1454	4	ADAMTS18	16	77355016	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08	1841630	77355016	12999737	45	1220											
KRT16	3868	broad.mit.edu	37	chr17	39767345	39767345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggaaccaggtctcagcGtctctgcggtttttctctgc	5	13	10	13	2	4	0	2	0	3	0	7	1	4	1	1	3	4	1	1	3	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr17:39767345G>A	uc002hxg.4	-	3	1048	c.909C>T	c.(907-909)gaC>gaT	p.D303D	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	303	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				AGGTCTCAGCGTCTCTGCGGT	0.607													A	39767345	G	A	39767345	2	1	19	1	0	0	0	0	0	0	0	1	8511	1136	40	1		1	KRT16	17	39767345	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		39767345	41427865	46	1221											
CILP2	148113	broad.mit.edu	37	chr19	19656153	19656153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcctggtggcccaacccGcaggagttccgggcctgctt	4	8	14	15	2	0	0	0	0	0	0	1	1	1	1	5	5	2	3	5	5	1	2			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:19656153G>A	uc002nmw.4	+	7	2902	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	CILP2_uc002nmv.4_Silent_p.P933P	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	933						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCCCAACCCGCAGGAGTTCC	0.662													A	19656153	G	A	19656153	2	1	19	1	0	0	0	0	0	0	0	1	3460	1074	38	1		1	CILP2	19	19656153	Silent	SNP	G	TCGA-06-0140-01A-01D-1490-08		19656153	39472830	47	1222											
LMTK3	114783	broad.mit.edu	37	chr19	49013377	49013377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggaggaggtctcctcCgcagggggagtgtactcccc	6	8	16	11	1	1	1	0	1	1	0	4	4	3	4	4	5	1	2	4	5	1	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:49013377C>T	uc002pjk.3	-	3	351	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_001080434	NP_001073903			Homo sapiens lemur tyrosine kinase 3 (LMTK3), mRNA.											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		AGGTCTCCTCCGCAGGGGGAG	0.622													T	49013377	C	T	49013377	2	4	19	1	0	0	0	0	0	0	0	1	8921	639	23	1		1	LMTK3	19	49013377	Silent	SNP	C	TCGA-06-0140-01A-01D-1490-08	29357224	49013377	10115606	48	1223											
ZNF71	58491	broad.mit.edu	37	chr19	57133286	57133286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagcgcacgcacacgggcGagaagccgtatgtgtgcgac	10	4	14	13	6	0	1	0	0	0	1	0	3	0	1	2	1	3	3	2	1	2	1			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr19:57133286G>A	uc002qnm.4	+	2	869	c.631G>A	c.(631-633)Gag>Aag	p.E211K	ZNF71_uc021vcg.1_Missense_Mutation_p.E211K	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	211						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GCACACGGGCGAGAAGCCGTA	0.657													A	57133286	G	A	57133286	3	1	19	1	0	0	0	0	1	0	0	0	18215	1059	37	1	633	1	ZNF71	19	57133286	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	8119909	57133286	1995697	49	1224											
PTPRT	11122	broad.mit.edu	37	chr20	41101086	41101086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacatactggtactgcaCggtgaggttgtagctatggc	10	10	13	8	1	0	1	0	1	0	0	0	2	0	1	0	4	5	5	0	4	5	5			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr20:41101086C>T	uc002xkg.3	-	7	1454	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	PTPRT_uc010ggj.3_Missense_Mutation_p.V424M	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	424	Fibronectin type-III 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGGTACTGCACGGTGAGGTTG	0.607													T	41101086	C	T	41101086	3	4	19	1	0	0	0	0	1	0	0	0	12900	536	19	1	3212	1	PTPRT	20	41101086	Missense_Mutation	SNP	C	TCGA-06-0140-01A-01D-1490-08		41101086	21924434	50	1225											
ADM2	79924	broad.mit.edu	37	chr22	50921222	50921222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcgagtgggctgtgtgctgGgcacctgccaggtgcagaat	6	9	17	9	1	0	1	0	0	0	1	0	2	0	1	2	3	4	4	2	3	1	0			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chr22:50921222G>A	uc003blj.3	+	1	629	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	ADM2_uc011ary.2_Missense_Mutation_p.G113S	NM_024866	NP_079142	Q7Z4H4	ADM2_HUMAN	Homo sapiens adrenomedullin 2 (ADM2), transcript variant 1, mRNA.	113					positive regulation of angiogenesis	extracellular region	hormone activity			breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTGTGCTGGGCACCTGCCA	0.701													A	50921222	G	A	50921222	3	1	19	1	0	0	0	0	1	0	0	0	322	1232	43	2	343	2	ADM2	22	50921222	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08		50921222	383344	51	1226											
BCOR	54880	broad.mit.edu	37	chrX	39932184	39932185	+	Frame_Shift_Ins	INS	-	-	CAGAC																															cttctcggagaaggtctacgINStagacaagcttgtcgctttt																										TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:39932184_39932185insCAGAC	uc004den.4	-	3	2706_2707	c.2414_2415insGTCTG	c.(2413-2415)tacfs	p.Y805fs	BCOR_uc004dep.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deo.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004dem.4_Frame_Shift_Ins_p.Y805fs|BCOR_uc004deq.4_Frame_Shift_Ins_p.Y805fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	805					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAAGGTCTACGTAGACAAGCTT	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						CAGAC	39932185	-	CAGAC	39932184	7	5	19	1	0	1	1	0	0	0	0	0	1391	1140	40	0	2900	0	BCOR	23	39932184	Frame_Shift_Ins	INS	-	TCGA-06-0140-01A-01D-1490-08		39932184	115338376	52	1227											
AKAP4	8852	broad.mit.edu	37	chrX	49957245	49957245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttagccatgataaggcagaGcttcatcacagattctacta	13	11	7	10	0	3	3	2	1	1	2	3	3	3	3	1	1	3	2	1	1	4	6			TCGA-06-0140-01A-01D-1490-08	TCGA-06-0140-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18c94086-d2cc-45cd-9bad-f8968a042d5e	f8eb6b04-153e-4953-8582-c207a5a7cf30	g.chrX:49957245G>A	uc004dow.1	-	4	2243	c.2119C>T	c.(2119-2121)Ctc>Ttc	p.L707F	AKAP4_uc004dou.1_Missense_Mutation_p.L698F|AKAP4_uc004dov.1_Missense_Mutation_p.L324F|AKAP4_uc010njp.1_Missense_Mutation_p.L529F	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	707					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATAAGGCAGAGCTTCATCACA	0.478													A	49957245	G	A	49957245	3	1	19	1	0	0	0	0	1	0	0	0	453	971	34	2	453	2	AKAP4	23	49957245	Missense_Mutation	SNP	G	TCGA-06-0140-01A-01D-1490-08	10025061	49957245	105313315	53	1228											
CATSPER4	378807	broad.mit.edu	37	chr1	26524882	26524882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgcatcacccaggacGgctgggtggacatctacagt	9	9	11	12	1	4	0	2	0	2	0	4	2	4	2	1	4	2	2	1	4	1	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr1:26524882G>A	uc010oez.2	+	5	784	c.784G>A	c.(784-786)Ggc>Agc	p.G262S	CATSPER4_uc010oey.1_Missense_Mutation_p.G84S|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	262					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CACCCAGGACGGCTGGGTGGA	0.557													A	26524882	G	A	26524882	3	1	20	1	0	0	0	0	1	0	0	0	2716	1116	39	1	806	1	CATSPER4	1	26524882	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		26524882	222725739	1	1229											
GFPT1	2673	broad.mit.edu	37	chr2	69583664	69583664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccgggaaaatgaacacttTtaaacacaagtgcaaaagca	18	6	8	9	1	0	1	0	1	0	0	0	2	0	2	1	1	4	2	1	1	8	2			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:69583664T>C	uc002sfi.2	-	6	752	c.569A>G	c.(568-570)aAa>aGa	p.K190R	GFPT1_uc002sfh.3_Missense_Mutation_p.K190R	NM_001244710	NP_001231639	Q06210	GFPT1_HUMAN	Homo sapiens glutamine--fructose-6-phosphate transaminase 1 (GFPT1), transcript variant 1, mRNA.	190	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						ATGAACACTTTTAAACACAAG	0.358													C	69583664	T	C	69583664	3	2	20	1	0	0	0	0	1	0	0	0	6401	1841	64	3	1528	3	GFPT1	2	69583664	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		69583664	173615709	2	1230											
SCRN3	79634	broad.mit.edu	37	chr2	175287615	175287615	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaattatttctctaggaAatataacttttgaaacaatg	18	15	4	4	0	1	1	0	1	1	0	2	2	1	2	0	1	2	0	0	1	10	8			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr2:175287615A>G	uc002uiq.3	+	5	855	c.757A>G	c.(757-759)Aat>Gat	p.N253D	SCRN3_uc010zen.2_Missense_Mutation_p.N246D|SCRN3_uc010zeo.2_Missense_Mutation_p.N51D|SCRN3_uc002uis.3_5'UTR	NM_024583	NP_078859	Q0VDG4	SCRN3_HUMAN	Homo sapiens secernin 3 (SCRN3), transcript variant 1, mRNA.	253					proteolysis		dipeptidase activity	p.G252R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|urinary_tract(3)	13			OV - Ovarian serous cystadenocarcinoma(117;0.229)			TTCTCTAGGAAATATAACTTT	0.318													G	175287615	A	G	175287615	3	3	20	1	0	0	0	0	1	0	0	0	14033	14	1	3	775	3	SCRN3	2	175287615	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	105703951	175287615	67911758	3	1231											
QRICH1	54870	broad.mit.edu	37	chr3	49094721	49094721	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtccaggtttctcctgtAgggctagtaatggtcccagt	7	13	12	9	0	1	0	0	0	1	0	4	0	3	0	3	4	0	4	3	4	3	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr3:49094721A>G	uc010hkq.3	-	3	1208	c.912T>C	c.(910-912)ccT>ccC	p.P304P	QRICH1_uc003cvu.3_Silent_p.P304P|QRICH1_uc003cvv.3_Silent_p.P304P|QRICH1_uc021wxr.1_Silent_p.P241P	NM_198880	NP_942581	Q2TAL8	QRIC1_HUMAN	Homo sapiens glutamine-rich 1 (QRICH1), transcript variant 2, mRNA.	304	Gln-rich.									breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TTTCTCCTGTAGGGCTAGTAA	0.557													G	49094721	A	G	49094721	2	3	20	1	0	0	0	0	0	0	0	1	12967	407	15	3		3	QRICH1	3	49094721	Silent	SNP	A	TCGA-06-0141-01A-01D-1490-08		49094721	148927709	4	1232											
N4BP2	55728	broad.mit.edu	37	chr4	40122570	40122570	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgggtagctccaatctaGgaagttctgaaatgctgctc	10	12	10	9	0	2	1	0	1	2	0	4	2	3	2	1	2	3	5	1	2	5	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:40122570G>T	uc003guy.4	+	8	3177	c.2839G>T	c.(2839-2841)Gga>Tga	p.G947*	N4BP2_uc010ifq.3_Nonsense_Mutation_p.G867*|N4BP2_uc010ifr.3_Nonsense_Mutation_p.G867*	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	947						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTCCAATCTAGGAAGTTCTGA	0.408													T	40122570	G	T	40122570	4	4	20	1	0	0	0	0	0	1	0	0	10186	1001	35	4	2865	4	N4BP2	4	40122570	Nonsense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		40122570	151031706	5	1233											
LRRC66	339977	broad.mit.edu	37	chr4	52883712	52883712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgctttttcttgatgcaTttgtcattattccagtaaaa	10	20	5	6	0	2	1	1	1	1	0	3	1	3	1	1	0	2	3	1	0	4	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:52883712T>C	uc003gzi.3	-	0	75	c.68A>G	c.(67-69)aAt>aGt	p.N23S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	23						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						TCTTGATGCATTTGTCATTAT	0.299													C	52883712	T	C	52883712	3	2	20	1	0	0	0	0	1	0	0	0	9088	1493	52	3	2590	3	LRRC66	4	52883712	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	12761142	52883712	138270564	6	1234											
ENOPH1	58478	broad.mit.edu	37	chr4	83372300	83372300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccgtggtagataatgtGtgctggcagatgtccctgga	8	10	15	8	1	0	2	0	0	0	2	1	3	1	3	2	4	1	3	2	4	2	2	rs143039236	by1000genomes	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:83372300G>A	uc003hmv.3	+	2	548	c.291G>A	c.(289-291)gtG>gtA	p.V97V	ENOPH1_uc003hmx.3_Intron	NM_021204	NP_067027	Q9UHY7	ENOPH_HUMAN	Homo sapiens enolase-phosphatase 1 (ENOPH1), mRNA.	97					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus	2,3-diketo-5-methylthiopentyl-1-phosphate enolase activity|2-hydroxy-3-keto-5-methylthiopentenyl-1-phosphate phosphatase activity|acireductone synthase activity|magnesium ion binding|phosphoglycolate phosphatase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|skin(1)	13						TAGATAATGTGTGCTGGCAGA	0.562													A	83372300	G	A	83372300	2	1	20	1	0	0	0	0	0	0	0	1	5165	1364	48	2		2	ENOPH1	4	83372300	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	30488588	83372300	107781976	7	1235											
ABCG2	9429	broad.mit.edu	37	chr4	89053011	89053011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgcggtgctccatttaTcagaacatctccagataatc	11	11	8	11	2	2	2	1	0	1	2	6	2	3	2	2	2	2	1	2	2	3	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr4:89053011T>C	uc003hrg.3	-	3	815	c.322A>G	c.(322-324)Ata>Gta	p.I108V	ABCG2_uc003hrh.3_Missense_Mutation_p.I108V|ABCG2_uc003hrf.3_5'UTR|ABCG2_uc003hri.1_Missense_Mutation_p.I108V|ABCG2_uc003hrj.1_Missense_Mutation_p.I108V|ABCG2_uc003hrk.1_Missense_Mutation_p.I108V	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	108	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	GCTCCATTTATCAGAACATCT	0.378													C	89053011	T	C	89053011	3	2	20	1	0	0	0	0	1	0	0	0	69	1435	50	3	1697	3	ABCG2	4	89053011	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	5680711	89053011	102101265	8	1236											
PCDHAC2	56136	broad.mit.edu	37	chr5	140263677	140263677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacaatgcgtggctttcGtatgaattgcagctggcggc	7	11	14	9	3	0	1	0	1	0	0	1	1	0	1	0	4	4	5	0	4	4	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140263677G>A	uc003lif.2	+	0	1824	c.1824G>A	c.(1822-1824)tcG>tcA	p.S608S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.S608S|PCDHAC2_uc003lid.3_Silent_p.S608S	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	621	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGGCTTTCGTATGAATTGC	0.682													A	140263677	G	A	140263677	2	1	20	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140263677	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08		140263677	40651583	9	1237											
PCDHB14	56122	broad.mit.edu	37	chr5	140604583	140604583	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcacctgcccctcgcctcCttggtctccatcaacgcgga	5	8	9	19	4	2	0	1	0	1	0	5	1	3	1	6	3	2	1	6	3	1	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr5:140604583C>A	uc003ljb.3	+	0	1506	c.1506C>A	c.(1504-1506)tcC>tcA	p.S502S		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTCGCCTCCTTGGTCTCCA	0.647													A	140604583	C	A	140604583	2	1	20	1	0	0	0	0	0	0	0	1	11615	668	24	4		4	PCDHB14	5	140604583	Silent	SNP	C	TCGA-06-0141-01A-01D-1490-08	340906	140604583	40310677	10	1238											
CFB	717	broad.mit.edu	37	chr6	31901955	31901955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccagaaagcctgggccGtaaaatccaaatccagcgct	12	8	8	13	2	1	1	0	0	1	1	4	1	3	1	5	1	2	2	5	1	4	2			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr6:31901955G>A	uc003nyf.3	+	5	992	c.728G>A	c.(727-729)cGt>cAt	p.R243H	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R243H|CFB_uc010jtk.3_Missense_Mutation_p.R111H|CFB_uc011doq.2_Missense_Mutation_p.R214H|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	259					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AGCCTGGGCCGTAAAATCCAA	0.547													A	31901955	G	A	31901955	3	1	20	1	0	0	0	0	1	0	0	0	3308	1145	40	1		1	CFB	6	31901955	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		31901955	139213112	11	1239											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr7:72398976A>G	uc003twk.2	+	3	1076	c.1076A>G	c.(1075-1077)aAt>aGt	p.N359S	POM121_uc003twj.3_Missense_Mutation_p.N94S|POM121_uc010lam.1_Missense_Mutation_p.N94S	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	359	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													G	72398976	A	G	72398976	3	3	20	1	0	0	0	0	1	0	0	0	12316	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		72398976	86739687	12	1240											
ZFAT	57623	broad.mit.edu	37	chr8	135533235	135533235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagctgcaaacaggacacTtcaaaccacctgaaagcaca	18	4	6	13	0	1	1	1	1	0	0	1	2	1	2	2	1	5	3	2	1	4	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr8:135533235T>G	uc003yup.3	-	12	3311	c.3125A>C	c.(3124-3126)aAg>aCg	p.K1042T	ZFAT_uc011ljj.2_Missense_Mutation_p.K161T|ZFAT_uc003yun.3_Missense_Mutation_p.K1030T|ZFAT_uc003yuo.3_Missense_Mutation_p.K1030T|ZFAT_uc010meh.3_Missense_Mutation_p.K1030T|ZFAT_uc010mej.3_Missense_Mutation_p.K980T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.K1030T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	1042					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AACAGGACACTTCAAACCACC	0.408													G	135533235	T	G	135533235	3	3	20	1	0	0	0	0	1	0	0	0	17733	1609	56	5	622	5	ZFAT	8	135533235	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		135533235	10830787	13	1241											
IARS	3376	broad.mit.edu	37	chr9	95004467	95004467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttgaataaggactttatccGatggagaaactggatatggt	13	12	11	5	1	0	2	0	1	0	1	1	6	1	4	1	4	1	0	1	4	5	5			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr9:95004467G>C	uc004art.1	-	28	3403	c.3146C>G	c.(3145-3147)tCg>tGg	p.S1049W	IARS_uc004ars.1_Missense_Mutation_p.S894W|IARS_uc004aru.3_Missense_Mutation_p.S1049W|IARS_uc010mqr.2_Missense_Mutation_p.S939W|IARS_uc010mqt.2_Missense_Mutation_p.S272W	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	1049					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	GACTTTATCCGATGGAGAAAC	0.388													C	95004467	G	C	95004467	3	2	20	1	0	0	0	0	1	0	0	0	7531	1059	37	4	666	4	IARS	9	95004467	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		95004467	46208964	14	1242											
RSU1	6251	broad.mit.edu	37	chr10	16794981	16794981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaatcgttgtcacttagaTagagtgcacgcagggtggct	11	10	12	8	2	1	2	1	0	0	2	2	2	1	2	0	2	1	4	0	2	4	3	rs149666298	byFrequency	TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:16794981T>C	uc001iok.3	-	4	721	c.419A>G	c.(418-420)tAt>tGt	p.Y140C	RSU1_uc001iol.3_Missense_Mutation_p.Y140C|RSU1_uc001iom.3_Missense_Mutation_p.Y87C|RSU1_uc001ion.3_Missense_Mutation_p.Y140C	NM_152724	NP_689937	Q15404	RSU1_HUMAN	Homo sapiens Ras suppressor protein 1 (RSU1), transcript variant 2, mRNA.	140					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)		GTCACTTAGATAGAGTGCACG	0.398													C	16794981	T	C	16794981	3	2	20	1	0	0	0	0	1	0	0	0	13807	1406	49	3	430	3	RSU1	10	16794981	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		16794981	118739766	15	1243											
MAP3K8	1326	broad.mit.edu	37	chr10	30739369	30739369	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaccaatgagagaatttgaAattatttgggtgacaaagca	16	10	11	4	0	0	4	0	3	0	1	0	6	0	5	1	2	1	1	1	2	5	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:30739369A>G	uc001ivi.2	+	4	1299	c.687A>G	c.(685-687)gaA>gaG	p.E229E	MAP3K8_uc009xlf.2_Silent_p.E229E|MAP3K8_uc001ivj.2_Silent_p.E229E	NM_005204	NP_005195	P41279	M3K8_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 8 (MAP3K8), transcript variant 1, mRNA.	229	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GAGAATTTGAAATTATTTGGG	0.418													G	30739369	A	G	30739369	2	3	20	1	0	0	0	0	0	0	0	1	9331	11	1	3		3	MAP3K8	10	30739369	Silent	SNP	A	TCGA-06-0141-01A-01D-1490-08	13944388	30739369	104795378	16	1244											
ZNF37A	7587	broad.mit.edu	37	chr10	38407378	38407378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaacatctaagaactcaCacaggtgagaaaccttatga	18	8	6	9	0	2	3	1	2	1	2	2	4	2	3	1	1	3	0	1	1	6	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:38407378C>A	uc001izk.3	+	7	2129	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	ZNF37A_uc001izl.3_Missense_Mutation_p.H433Q|ZNF37A_uc001izm.3_Missense_Mutation_p.H433Q	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	433						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TAAGAACTCACACAGGTGAGA	0.383													A	38407378	C	A	38407378	3	1	20	1	0	0	0	0	1	0	0	0	17973	477	17	4	1313	4	ZNF37A	10	38407378	Missense_Mutation	SNP	C	TCGA-06-0141-01A-01D-1490-08	7668009	38407378	97127369	17	1245											
ANK3	288	broad.mit.edu	37	chr10	61831909	61831909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatttctgagagagagccGtttgttaacaatttgcgttc	10	16	9	6	2	1	2	0	1	1	2	2	4	1	2	1	0	3	3	1	0	3	6			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr10:61831909G>A	uc001jky.3	-	36	9068	c.8730C>T	c.(8728-8730)aaC>aaT	p.N2910N	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	2910					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AGAGAGAGCCGTTTGTTAACA	0.378													A	61831909	G	A	61831909	2	1	20	1	0	0	0	0	0	0	0	1	622	1136	40	1		1	ANK3	10	61831909	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	23424531	61831909	73702838	18	1246											
OR4C15	81309	broad.mit.edu	37	chr11	55322828	55322828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaataaggaagtaaaacAggccatgaggagaatatgga	19	5	13	4	0	0	2	0	1	0	1	0	6	0	5	1	5	1	1	1	5	7	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:55322828A>T	uc010rig.2	+	0	1046	c.1046A>T	c.(1045-1047)cAg>cTg	p.Q349L		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAAGTAAAACAGGCCATGAGG	0.328										HNSCC(20;0.049)			T	55322828	A	T	55322828	3	4	20	1	0	0	0	0	1	0	0	0	11124	188	7	5	1048	5	OR4C15	11	55322828	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		55322828	79683688	19	1247											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71277242	71277242	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccagtgtaagatctgAggctctgaacccagaccttc	9	10	10	12	0	2	4	0	2	2	2	3	4	2	4	3	1	3	3	3	1	2	2			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:71277242A>G	uc001oqt.1	+	0	634	c.609A>G	c.(607-609)tgA>tgG	p.*203W		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	0						keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GTAAGATCTGAGGCTCTGAAC	0.547													G	71277242	A	G	71277242	4	3	20	1	0	0	0	0	0	0	0	0	8618	317	11	3	611	3	KRTAP5-10	11	71277242	Nonstop_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	15954414	71277242	63729274	20	1248											
BIRC2	329	broad.mit.edu	37	chr11	102220791	102220791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaaaggagtcttgctcGtgctggtttttattatactg	8	16	10	7	1	2	1	1	0	1	1	3	2	2	2	0	2	3	3	0	2	4	6			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr11:102220791G>T	uc001pgy.3	+	1	1605	c.206G>T	c.(205-207)cGt>cTt	p.R69L	BIRC2_uc010ruq.2_Missense_Mutation_p.R20L|BIRC2_uc010rur.2_Missense_Mutation_p.R69L	NM_001166	NP_001157	Q13490	BIRC2_HUMAN	Homo sapiens baculoviral IAP repeat containing 2 (BIRC2), mRNA.	69					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGTCTTGCTCGTGCTGGTTTT	0.423													T	102220791	G	T	102220791	3	4	20	1	0	0	0	0	1	0	0	0	1441	1145	40	4	208	4	BIRC2	11	102220791	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08	30943549	102220791	32785725	21	1249											
KLRC2	3823	broad.mit.edu	37	chr12	10573038	10573038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttaattctacttggaataTttcctgttcggttcctgaaa	9	18	7	7	1	1	1	0	1	1	0	4	2	3	2	2	2	1	3	2	2	5	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10573038T>C	uc001qyi.1	-	0	157	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_uc001qyf.3_Missense_Mutation_p.I38V|KLRC2_uc021qvc.1_Missense_Mutation_p.I38V|KLRC2_uc001qyh.3_Intron|KLRC2_uc021qvd.1_Missense_Mutation_p.I38V	NM_007333	NP_031359	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 2, mRNA.	38					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTGGAATATTTCCTGTTCG	0.378													C	10573038	T	C	10573038	3	2	20	1	0	0	0	0	1	0	0	0	8474	1493	52	3		3	KLRC2	12	10573038	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		10573038	123278857	22	1250											
KLRC2	3823	broad.mit.edu	37	chr12	10588474	10588474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaattctacttggaataTttcctgttcggttcctgaaa	10	18	6	7	1	1	1	0	1	1	0	4	2	3	2	2	2	1	2	2	2	5	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:10588474T>C	uc001qyh.3	-	0	119	c.112A>G	c.(112-114)Ata>Gta	p.I38V	KLRC2_uc010she.1_Missense_Mutation_p.I38V|KLRC2_uc001qyk.2_Missense_Mutation_p.I38V	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	38					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						ACTTGGAATATTTCCTGTTCG	0.383													C	10588474	T	C	10588474	3	2	20	1	0	0	0	0	1	0	0	0	8474	1493	52	3	607	3	KLRC2	12	10588474	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08	15436	10588474	123263421	23	1251											
TMCC3	57458	broad.mit.edu	37	chr12	94975965	94975965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggctccattctgctcgAtctctctgagctttcgatga	7	14	9	11	2	3	3	0	2	3	1	7	5	4	3	1	1	2	3	1	1	1	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr12:94975965A>G	uc001tdj.2	-	1	546	c.428T>C	c.(427-429)aTc>aCc	p.I143T	TMCC3_uc001tdi.2_Missense_Mutation_p.I112T	NM_020698	NP_065749	Q9ULS5	TMCC3_HUMAN	Homo sapiens transmembrane and coiled-coil domain family 3 (TMCC3), mRNA.	143						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ATTCTGCTCGATCTCTCTGAG	0.458													G	94975965	A	G	94975965	3	3	20	1	0	0	0	0	1	0	0	0	16094	333	12	3	1017	3	TMCC3	12	94975965	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08	84387491	94975965	38875930	24	1252											
SACS	26278	broad.mit.edu	37	chr13	23928995	23928995	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgagcacagtttttgtgtAttctaaattttcatcaagtt	10	19	7	5	0	3	1	2	1	1	0	3	1	3	1	0	0	1	5	0	0	4	9			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr13:23928995A>G	uc001uon.2	-	7	2345	c.1756T>C	c.(1756-1758)Tac>Cac	p.Y586H	SACS_uc001uoo.2_Missense_Mutation_p.Y439H|SACS_uc001uop.1_Missense_Mutation_p.Y373H|SACS_uc001uoq.1_Missense_Mutation_p.Y439H	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	586					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTTTGTGTATTCTAAATTT	0.468													G	23928995	A	G	23928995	3	3	20	1	0	0	0	0	1	0	0	0	13895	449	16	3	11995	3	SACS	13	23928995	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		23928995	91240883	25	1253											
UBE3A	7337	broad.mit.edu	37	chr15	25616938	25616938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatttcatataccttcTcttctgttaagtaagtcaca	13	15	4	9	0	4	1	2	0	2	1	5	1	4	1	1	0	1	2	1	0	6	7			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr15:25616938T>C	uc001zaq.3	-	6	1152	c.392A>G	c.(391-393)gAg>gGg	p.E131G	SNRPN_uc001zae.3_Intron|UBE3A_uc001zar.3_Missense_Mutation_p.E108G|UBE3A_uc001zas.3_Missense_Mutation_p.E128G|UBE3A_uc001zat.3_Missense_Mutation_p.E108G	NM_000462	NP_570853	Q05086	UBE3A_HUMAN	Homo sapiens ubiquitin protein ligase E3A (UBE3A), transcript variant 2, mRNA.	131					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		ATATACCTTCTCTTCTGTTAA	0.308													C	25616938	T	C	25616938	3	2	20	1	0	0	0	0	1	0	0	0	16981	1551	54	3	2267	3	UBE3A	15	25616938	Missense_Mutation	SNP	T	TCGA-06-0141-01A-01D-1490-08		25616938	76914454	26	1254											
MIS12	79003	broad.mit.edu	37	chr17	5392643	5392643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaggccaaactcaaacAgacgttgactttctttgatg	11	13	8	9	1	3	3	2	2	1	1	3	3	3	3	1	1	2	2	1	1	2	4			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:5392643A>G	uc002gce.3	+	2	1014	c.461A>G	c.(460-462)cAg>cGg	p.Q154R	MIS12_uc002gcd.3_Missense_Mutation_p.Q154R|MIS12_uc021tom.1_Missense_Mutation_p.Q154R	NM_024039	NP_076944	Q9H081	MIS12_HUMAN	Homo sapiens MIS12, MIND kinetochore complex component, homolog (S. pombe) (MIS12), mRNA.	154					cell division|chromosome segregation|kinetochore assembly|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(2)	12						AAACTCAAACAGACGTTGACT	0.393													G	5392643	A	G	5392643	3	3	20	1	0	0	0	0	1	0	0	0	9669	188	7	3	463	3	MIS12	17	5392643	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		5392643	75802567	27	1255											
MYH2	4620	broad.mit.edu	37	chr17	10430104	10430104	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagggcatgcgccagggcGttcttggcctatggaggcag	6	8	17	10	2	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	1	3			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr17:10430104G>A	uc010coi.3	-	29	4127	c.3999C>T	c.(3997-3999)aaC>aaT	p.N1333N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N1333N|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1333					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.N1333N(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GCGCCAGGGCGTTCTTGGCCT	0.498													A	10430104	G	A	10430104	2	1	20	1	0	0	0	0	0	0	0	1	10111	1136	40	1		1	MYH2	17	10430104	Silent	SNP	G	TCGA-06-0141-01A-01D-1490-08	5037461	10430104	70765106	28	1256											
MALT1	10892	broad.mit.edu	37	chr18	56378165	56378165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaggaagaacagatgAggcagtggagtgcactgaag	17	4	15	5	0	0	4	0	2	0	2	0	7	0	6	0	3	3	2	0	3	5	0			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr18:56378165A>G	uc002lhm.1	+	6	1196	c.938A>G	c.(937-939)gAg>gGg	p.E313G	MALT1_uc002lhn.1_Intron	NM_006785	NP_006776	Q9UDY8	MALT1_HUMAN	Homo sapiens mucosa associated lymphoid tissue lymphoma translocation gene 1 (MALT1), transcript variant 1, mRNA.	313					activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGAACAGATGAGGCAGTGGAG	0.388			T	BIRC3	MALT								G	56378165	A	G	56378165	3	3	20	1	0	0	0	0	1	0	0	0	9277	304	11	3	964	3	MALT1	18	56378165	Missense_Mutation	SNP	A	TCGA-06-0141-01A-01D-1490-08		56378165	21699083	29	1257											
ZNF28	7576	broad.mit.edu	37	chr19	53303147	53303147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagcctatgatggtataCgagggatgacatctgactga	13	10	12	6	1	1	5	0	5	1	0	1	7	1	6	1	2	2	1	1	2	4	3	rs146037495		TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chr19:53303147C>T	uc002qad.3	-	3	2108	c.1951G>A	c.(1951-1953)Gta>Ata	p.V651I	ZNF28_uc002qac.3_Missense_Mutation_p.V597I|ZNF28_uc010eqe.3_Missense_Mutation_p.V597I|ZNF28_uc021uza.1_Missense_Mutation_p.V598I	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGATGGTATACGAGGGATGAC	0.423													T	53303147	C	T	53303147	3	4	20	1	0	0	0	0	1	0	0	0	17914	536	19	1	209	1	ZNF28	19	53303147	Missense_Mutation	SNP	C	TCGA-06-0141-01A-01D-1490-08		53303147	5825836	30	1258											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298905	125298905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttctgctggcgctggcGcggatccaggaaggagacgt	7	8	17	9	4	1	1	0	0	1	1	2	5	2	3	1	5	1	3	1	5	1	1			TCGA-06-0141-01A-01D-1490-08	TCGA-06-0141-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5af251d5-e76b-480c-8142-6d6fbfce0b2a	c6f91567-fa3d-4920-80e6-bc04a5c0c9b1	g.chrX:125298905G>A	uc004euk.2	-	0	1176	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	335								p.R335C(3)|p.R335H(1)|p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TGGCGCTGGCGCGGATCCAGG	0.627													A	125298905	G	A	125298905	3	1	20	1	0	0	0	0	1	0	0	0	4299	1087	38	1	392	1	DCAF12L2	23	125298905	Missense_Mutation	SNP	G	TCGA-06-0141-01A-01D-1490-08		125298905	29971655	31	1259											
EPHB2	2048	broad.mit.edu	37	chr1	23208926	23208926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctgtcgtggtcccagccgGaccagcccaatggcgtgatc	6	7	12	16	3	0	1	0	1	0	0	3	2	1	2	5	3	2	0	5	3	1	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:23208926G>A	uc009vqj.1	+	5	1523	c.1378G>A	c.(1378-1380)Gac>Aac	p.D460N	EPHB2_uc001bge.3_Missense_Mutation_p.D460N|EPHB2_uc001bgf.3_Missense_Mutation_p.D460N|EPHB2_uc010odu.2_Missense_Mutation_p.D460N	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	460	Fibronectin type-III 2.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTCCCAGCCGGACCAGCCCAA	0.607													A	23208926	G	A	23208926	3	1	21	1	0	0	0	0	1	0	0	0	5216	1174	41	2	1400	2	EPHB2	1	23208926	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		23208926	226041695	1	1260											
AMPD2	271	broad.mit.edu	37	chr1	110171969	110171969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatggttttgacagcgtGgatgatgagtccaagcctga	9	11	15	6	1	0	4	0	4	0	0	1	6	1	6	2	3	2	1	2	3	1	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:110171969G>A	uc009wfh.1	+	14	2423	c.1881G>A	c.(1879-1881)gtG>gtA	p.V627V	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Silent_p.V546V|AMPD2_uc001dyc.1_Silent_p.V627V|AMPD2_uc010ovr.1_Silent_p.V552V|AMPD2_uc001dyd.1_Silent_p.V508V|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	627					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTGACAGCGTGGATGATGAGT	0.587													A	110171969	G	A	110171969	2	1	21	1	0	0	0	0	0	0	0	1	586	1335	47	2		2	AMPD2	1	110171969	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	86963043	110171969	139078652	2	1261											
COPA	1314	broad.mit.edu	37	chr1	160268961	160268961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatcaatggtgagtacccgGggacgacactccctgtctag	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	2	4	1	1	2	4	3	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:160268961G>A	uc001fvv.4	-	17	2182	c.1788C>T	c.(1786-1788)ccC>ccT	p.P596P	COPA_uc009wti.3_Silent_p.P587P	NM_001098398	NP_001091868	P53621	COPA_HUMAN	Homo sapiens coatomer protein complex, subunit alpha (COPA), transcript variant 1, mRNA.	587					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TGAGTACCCGGGGACGACACT	0.463													A	160268961	G	A	160268961	2	1	21	1	0	0	0	0	0	0	0	1	3758	1219	43	2		2	COPA	1	160268961	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	50096992	160268961	88981660	3	1262											
EPHX1	2052	broad.mit.edu	37	chr1	226027691	226027691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtattctacagcctgatgaGggagagcggctacatgcaca	11	8	13	9	1	1	3	0	2	1	1	1	4	1	3	1	3	5	3	1	3	3	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr1:226027691G>A	uc001hpk.3	+	5	964	c.884G>A	c.(883-885)aGg>aAg	p.R295K	EPHX1_uc001hpl.3_Missense_Mutation_p.R295K	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	295					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					AGCCTGATGAGGGAGAGCGGC	0.607													A	226027691	G	A	226027691	3	1	21	1	0	0	0	0	1	0	0	0	5220	1000	35	2	902	2	EPHX1	1	226027691	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	65758730	226027691	23222930	4	1263											
BIRC6	57448	broad.mit.edu	37	chr2	32740406	32740406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcttcttgtgaggagtctgGctagtttctgctttagccac	5	16	10	10	0	4	1	0	1	4	0	4	2	4	2	1	2	2	3	1	2	2	6	rs112352145		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:32740406G>A	uc010ezu.3	+	54	11052	c.10918G>A	c.(10918-10920)Gct>Act	p.A3640T		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3640					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	p.A3612S(1)|p.A3640S(1)		NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GAGGAGTCTGGCTAGTTTCTG	0.438													A	32740406	G	A	32740406	3	1	21	1	0	0	0	0	1	0	0	0	1444	1203	42	2	11136	2	BIRC6	2	32740406	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		32740406	210458967	5	1264											
RGPD4	285190	broad.mit.edu	37	chr2	108476261	108476261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaacatggccttcaacCtgctctgcttgtacattggg	10	11	10	10	0	2	0	1	0	1	0	2	1	2	1	2	3	5	3	2	3	4	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:108476261C>T	uc010ywk.2	+	11	1800	c.1718C>T	c.(1717-1719)cCt>cTt	p.P573L	RGPD4_uc002tdu.3_5'UTR|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	573					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GGCCTTCAACCTGCTCTGCTT	0.328													T	108476261	C	T	108476261	3	4	21	1	0	0	0	0	1	0	0	0	13376	681	24	2	1764	2	RGPD4	2	108476261	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	75735855	108476261	134723112	6	1265											
GCC2	9648	broad.mit.edu	37	chr2	109103046	109103046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaacagcaccagcgtaCgctaagtgcataccagcaga	13	5	11	12	3	0	1	0	0	0	1	0	2	0	2	2	1	8	5	2	1	4	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:109103046C>T	uc002tec.3	+	15	4026	c.3872C>T	c.(3871-3873)aCg>aTg	p.T1291M	GCC2_uc002ted.3_Missense_Mutation_p.T1190M	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						CACCAGCGTACGCTAAGTGCA	0.502													T	109103046	C	T	109103046	3	4	21	1	0	0	0	0	1	0	0	0	6340	536	19	1	3934	1	GCC2	2	109103046	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	626785	109103046	134096327	7	1266											
ITGA4	3676	broad.mit.edu	37	chr2	182386969	182386969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagtatgaagacattgatGttgaatgtgtccttgtttaa	11	15	12	3	0	0	4	0	3	0	1	1	5	1	5	1	1	0	3	1	1	4	6			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:182386969G>A	uc002unu.3	+	17	2737	c.1974G>A	c.(1972-1974)atG>atA	p.M658I	ITGA4_uc010frj.1_Missense_Mutation_p.M140I|ITGA4_uc002unv.3_5'UTR	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	658					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AGACATTGATGTTGAATGTGT	0.333													A	182386969	G	A	182386969	3	1	21	1	0	0	0	0	1	0	0	0	7936	1377	48	2	2044	2	ITGA4	2	182386969	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	73283923	182386969	60812404	8	1267											
VIL1	7429	broad.mit.edu	37	chr2	219301876	219301876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattgggaaacatgccaaCgaggaggagaagaaggccgc	14	4	16	7	2	0	2	0	0	0	2	0	7	0	5	2	5	3	0	2	5	4	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:219301876C>T	uc002vib.3	+	15	2023	c.2001C>T	c.(1999-2001)aaC>aaT	p.N667N	VIL1_uc010zke.2_Silent_p.N356N|VIL1_uc002via.3_Silent_p.N667N	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	667	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AACATGCCAACGAGGAGGAGA	0.572													T	219301876	C	T	219301876	2	4	21	1	0	0	0	0	0	0	0	1	17266	535	19	1		1	VIL1	2	219301876	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08	36914907	219301876	23897497	9	1268											
PAX3	5077	broad.mit.edu	37	chr2	223084911	223084911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatggggttggagggccccGacggaggcacaaagctgtct	8	7	16	10	2	2	0	1	0	1	0	2	3	2	2	2	6	1	3	2	6	1	1	rs45607236		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:223084911G>A	uc010fwo.3	-	6	1502	c.1121C>T	c.(1120-1122)tCg>tTg	p.S374L	PAX3_uc002vmt.2_Missense_Mutation_p.S374L|PAX3_uc002vmy.2_Missense_Mutation_p.S373L|PAX3_uc002vmv.2_Missense_Mutation_p.S374L|PAX3_uc002vmw.2_Missense_Mutation_p.S374L|PAX3_uc002vmx.2_Missense_Mutation_p.S374L	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	374					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S374S(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGGCCCCGACGGAGGCAC	0.552			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223084911	G	A	223084911	3	1	21	1	0	0	0	0	1	0	0	0	11556	1059	37	1	440	1	PAX3	2	223084911	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	3783035	223084911	20114462	10	1269											
C2orf57	165100	broad.mit.edu	37	chr2	232457869	232457869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatctggagacaaagaCaagagtgcagttgttccaga	15	8	10	8	0	2	4	1	0	1	4	3	5	3	4	1	1	2	3	1	1	3	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr2:232457869C>T	uc002vrz.3	+	0	295	c.207C>T	c.(205-207)gaC>gaT	p.D69D		NM_152614	NP_689827	Q53QW1	CB057_HUMAN	Homo sapiens chromosome 2 open reading frame 57 (C2orf57), mRNA.	69										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GAGACAAAGACAAGAGTGCAG	0.532													T	232457869	C	T	232457869	2	4	21	1	0	0	0	0	0	0	0	1	2199	477	17	2		2	C2orf57	2	232457869	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08	9372958	232457869	10741504	11	1270											
CCR8	1237	broad.mit.edu	37	chr3	39374277	39374277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgatcaggatgggcacaaCgctgtgcctggcagtatggc	9	7	15	10	2	1	0	1	0	0	0	1	3	1	1	1	4	2	4	1	4	2	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:39374277C>T	uc010hhr.2	+	1	593	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CCR8_uc003cjm.2_Missense_Mutation_p.T69M|CCR8_uc021wwe.1_Missense_Mutation_p.T152M	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	152					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGGCACAACGCTGTGCCTG	0.502													T	39374277	C	T	39374277	3	4	21	1	0	0	0	0	1	0	0	0	2977	536	19	1	457	1	CCR8	3	39374277	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		39374277	158648153	12	1271											
CAMKV	79012	broad.mit.edu	37	chr3	49898275	49898275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcatagaaaggtggatTgcctgaaagcctgcatgggg	10	9	13	9	0	1	2	1	1	0	1	2	3	2	3	3	4	3	1	3	4	3	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:49898275T>C	uc003cxt.1	-	7	842	c.649A>G	c.(649-651)Aat>Gat	p.N217D	CAMKV_uc011bcy.1_Missense_Mutation_p.N142D|CAMKV_uc003cxv.1_Missense_Mutation_p.N189D|CAMKV_uc003cxw.1_Missense_Mutation_p.N49D|CAMKV_uc003cxx.1_Missense_Mutation_p.N49D|CAMKV_uc003cxu.2_Missense_Mutation_p.N217D|CAMKV_uc011bcz.1_Missense_Mutation_p.N180D|CAMKV_uc011bda.1_Missense_Mutation_p.N174D|CAMKV_uc011bdb.1_Non-coding_Transcript	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	217	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AAAGGTGGATTGCCTGAAAGC	0.512													C	49898275	T	C	49898275	3	2	21	1	0	0	0	0	1	0	0	0	2634	1812	63	3	872	3	CAMKV	3	49898275	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08	10523998	49898275	148124155	13	1272											
NSUN3	63899	broad.mit.edu	37	chr3	93813043	93813043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtggctaaggcagacgttgGaatctttcatcccacagcct	9	10	11	11	1	2	1	1	0	1	1	3	2	3	2	2	4	1	3	2	4	2	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr3:93813043G>C	uc003drl.1	+	3	642	c.526G>C	c.(526-528)Gaa>Caa	p.E176Q		NM_022072	NP_071355	Q9H649	NSUN3_HUMAN	Homo sapiens NOP2/Sun domain family, member 3 (NSUN3), mRNA.	176							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	18						GCAGACGTTGGAATCTTTCAT	0.368													C	93813043	G	C	93813043	3	2	21	1	0	0	0	0	1	0	0	0	10755	1175	41	4	540	4	NSUN3	3	93813043	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	43914768	93813043	104209387	14	1273											
RBM47	54502	broad.mit.edu	37	chr4	40440502	40440502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcaggcggcccgggcGgatctcgtagttgttgagct	5	8	17	11	5	1	1	0	1	1	0	2	3	1	2	2	4	2	5	2	4	1	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:40440502G>A	uc003gvc.2	-	3	1119	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	RBM47_uc003gvd.2_Missense_Mutation_p.R137C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R99C|RBM47_uc003gvg.1_Missense_Mutation_p.R137C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	137	RRM 1.					nucleus	nucleotide binding|RNA binding	p.R137C(4)|p.I136I(1)		breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CGGCCCGGGCGGATCTCGTAG	0.622													A	40440502	G	A	40440502	3	1	21	1	0	0	0	0	1	0	0	0	13229	1116	39	1	1388	1	RBM47	4	40440502	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		40440502	150713774	15	1274											
KDR	3791	broad.mit.edu	37	chr4	55955885	55955885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatttcccacagcaaaaCaccaaaagaccagacgtcac	19	5	4	13	1	1	2	1	0	0	2	2	2	2	2	3	0	2	1	3	0	6	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:55955885C>T	uc003has.3	-	23	3579	c.3277G>A	c.(3277-3279)Gtt>Att	p.V1093I	KDR_uc003hat.1_Missense_Mutation_p.V1093I	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1093	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACAGCAAAACACCAAAAGAC	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55955885	C	T	55955885	3	4	21	1	0	0	0	0	1	0	0	0	8197	478	17	2	821	2	KDR	4	55955885	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	15515383	55955885	135198391	16	1275											
BMP2K	55589	broad.mit.edu	37	chr4	79772148	79772148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagtcaggttgctatctGtgatggcaacttcaccatcc	9	12	10	10	0	3	2	2	2	1	1	4	3	4	2	2	2	2	3	2	2	2	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:79772148G>A	uc003hlk.3	+	6	987	c.821G>A	c.(820-822)tGt>tAt	p.C274Y	BMP2K_uc010ijl.1_Non-coding_Transcript|BMP2K_uc003hlj.3_Missense_Mutation_p.C274Y	NM_198892	NP_942595	Q9NSY1	BMP2K_HUMAN	Homo sapiens BMP2 inducible kinase (BMP2K), transcript variant 1, mRNA.	274	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						GTTGCTATCTGTGATGGCAAC	0.363													A	79772148	G	A	79772148	3	1	21	1	0	0	0	0	1	0	0	0	1466	1377	48	2	847	2	BMP2K	4	79772148	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	23816263	79772148	111382128	17	1276											
ENPEP	2028	broad.mit.edu	37	chr4	111397732	111397732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcgggccgggcactgcGccagctccttcccacctgcc	4	5	13	19	4	0	0	0	0	0	0	2	1	2	0	6	3	3	2	6	3	0	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:111397732G>A	uc003iab.4	+	0	504	c.162G>A	c.(160-162)gcG>gcA	p.A54A		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	54					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding	p.A54A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGGGCACTGCGCCAGCTCCTT	0.647													A	111397732	G	A	111397732	2	1	21	1	0	0	0	0	0	0	0	1	5169	1074	38	1		1	ENPEP	4	111397732	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	31625584	111397732	79756544	18	1277											
C4orf46	201725	broad.mit.edu	37	chr4	159590866	159590866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaggcaagttcttccaCttgagctgatactgcagatg	10	13	10	8	0	1	4	0	3	1	1	2	4	2	4	1	1	3	4	1	1	3	5			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr4:159590866C>T	uc003iqa.2	-	1	490	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	C4orf46_uc010iqp.1_Non-coding_Transcript|ETFDH_uc010iqq.3_5'Flank|ETFDH_uc003iqb.3_5'Flank|ETFDH_uc011cjg.2_5'Flank|ETFDH_uc010iqr.3_5'Flank	NM_001008393	NP_001008394	Q504U0	CD046_HUMAN	Homo sapiens chromosome 4 open reading frame 46 (C4orf46), mRNA.	81										kidney(1)|lung(3)|skin(1)	5						AGTTCTTCCACTTGAGCTGAT	0.363													T	159590866	C	T	159590866	3	4	21	1	0	0	0	0	1	0	0	0	2296	565	20	2	104	2	C4orf46	4	159590866	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	48193134	159590866	31563410	19	1278											
HCN1	348980	broad.mit.edu	37	chr5	45695840	45695840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgctccttttccaccGccttctggctcccaaacatg	5	14	5	17	1	1	0	0	0	1	0	5	0	5	0	6	1	2	2	6	1	1	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:45695840G>A	uc003jok.3	-	0	381	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	119	Involved in subunit assembly (By similarity).					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTTTCCACCGCCTTCTGGCT	0.602													A	45695840	G	A	45695840	3	1	21	1	0	0	0	0	1	0	0	0	7051	1087	38	1	2348	1	HCN1	5	45695840	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		45695840	135219420	20	1279											
TMEM161B	153396	broad.mit.edu	37	chr5	87516531	87516531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtattctggaaagtaatGcaatgctggaaagaaaaaaa	18	9	10	4	0	1	1	0	0	1	1	1	3	1	3	0	3	2	4	0	3	8	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:87516531G>C	uc003kjc.3	-	4	420	c.295C>G	c.(295-297)Cat>Gat	p.H99D	TMEM161B_uc011cty.2_Missense_Mutation_p.H88D|TMEM161B_uc010jax.3_Non-coding_Transcript|TMEM161B_uc011ctz.1_5'UTR|TMEM161B_uc011ctx.2_5'UTR	NM_153354	NP_699185	Q8NDZ6	T161B_HUMAN	Homo sapiens transmembrane protein 161B (TMEM161B), mRNA.	99						integral to membrane		p.H99Y(2)		endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GGAAAGTAATGCAATGCTGGa	0.299													C	87516531	G	C	87516531	3	2	21	1	0	0	0	0	1	0	0	0	16177	1319	46	4	1200	4	TMEM161B	5	87516531	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	41820691	87516531	93398729	21	1280											
BRD8	10902	broad.mit.edu	37	chr5	137485483	137485483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggattcttgctgagcctCcccctaggaatgccaggaaa	9	11	10	11	0	1	1	0	1	1	0	2	4	2	4	4	3	3	1	4	3	3	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:137485483C>T	uc003lcf.1	-	22	3179	c.3124G>A	c.(3124-3126)Gag>Aag	p.E1042K		NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1042					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGCTGAGCCTCCCCCTAGGAA	0.458													T	137485483	C	T	137485483	3	4	21	1	0	0	0	0	1	0	0	0	1515	864	30	2	603	2	BRD8	5	137485483	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	49968952	137485483	43429777	22	1281											
PCDHB14	56122	broad.mit.edu	37	chr5	140605384	140605384	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttcaaatttctgaagccGattatccccaattttcaagt	12	14	6	9	1	3	1	2	1	1	0	4	3	4	1	3	0	1	1	3	0	5	5	rs147177582		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:140605384G>A	uc003ljb.3	+	0	2307	c.2307G>A	c.(2305-2307)ccG>ccA	p.P769P		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	769					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTGAAGCCGATTATCCCCA	0.448													A	140605384	G	A	140605384	2	1	21	1	0	0	0	0	0	0	0	1	11615	1045	37	1		1	PCDHB14	5	140605384	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	3119901	140605384	40309876	23	1282											
ARAP3	64411	broad.mit.edu	37	chr5	141035273	141035273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtgccaaacttctgacggGcaaggtcagaggaggaatgg	12	7	15	7	1	2	2	1	1	1	1	2	4	2	4	1	5	2	1	1	5	4	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr5:141035273G>A	uc003llm.3	-	30	4103	c.4025C>T	c.(4024-4026)gCc>gTc	p.A1342V	ARAP3_uc003lll.3_Missense_Mutation_p.A293V|ARAP3_uc011dbe.2_Missense_Mutation_p.A1004V|ARAP3_uc003lln.3_Missense_Mutation_p.A1173V	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1342					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTCTGACGGGCAAGGTCAGA	0.592													A	141035273	G	A	141035273	3	1	21	1	0	0	0	0	1	0	0	0	843	1203	42	2	621	2	ARAP3	5	141035273	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	429889	141035273	39879987	24	1283											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	21	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		55221822	103916841	25	1284											
TG	7038	broad.mit.edu	37	chr8	134144071	134144071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctggagctgctggcGgatgttcagtttgccttggg	4	12	15	10	1	2	0	2	0	0	0	2	2	2	2	2	4	4	4	2	4	0	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr8:134144071G>A	uc003ytw.3	+	45	7919	c.7878G>A	c.(7876-7878)gcG>gcA	p.A2626A	TG_uc010mdw.3_Silent_p.A1385A|TG_uc011ljb.2_Silent_p.A995A|TG_uc011ljc.2_Silent_p.A759A	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2626					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCTGCTGGCGGATGTTCAGT	0.458													A	134144071	G	A	134144071	2	1	21	1	0	0	0	0	0	0	0	1	15913	1103	39	1		1	TG	8	134144071	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08		134144071	12219951	26	1285											
DNAI1	27019	broad.mit.edu	37	chr9	34489407	34489407	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccccaaagactcagaTgaaggacggcggcagcatta	13	6	11	11	2	1	4	1	2	0	2	2	5	2	5	2	3	1	2	2	3	3	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:34489407T>A	uc003zum.3	+	4	541	c.348T>A	c.(346-348)gaT>gaA	p.D116E		NM_012144	NP_036276	Q9UI46	DNAI1_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 1 (DNAI1), mRNA.	116					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AAGACTCAGATGAAGGACGGC	0.527									Kartagener syndrome				A	34489407	T	A	34489407	3	1	21	1	0	0	0	0	1	0	0	0	4648	1461	51	5	366	5	DNAI1	9	34489407	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08		34489407	106724024	27	1286											
ZNF462	58499	broad.mit.edu	37	chr9	109688130	109688130	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattggaaaatgagacagAcagccacccctcttccagca	14	6	7	14	0	1	2	0	1	1	2	2	4	2	3	5	1	2	1	5	1	2	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr9:109688130A>C	uc004bcz.3	+	2	2226	c.1937A>C	c.(1936-1938)gAc>gCc	p.D646A	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.D494A|ZNF462_uc004bda.3_Missense_Mutation_p.D494A	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	646					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AATGAGACAGACAGCCACCCC	0.463													C	109688130	A	C	109688130	3	2	21	1	0	0	0	0	1	0	0	0	18027	275	10	5	1943	5	ZNF462	9	109688130	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08	75198723	109688130	31525301	28	1287											
LRRC18	474354	broad.mit.edu	37	chr10	50121549	50121549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattctattcaggttgtcccGggcgttttggcattttctca	5	17	10	9	2	3	0	2	0	2	0	5	1	4	0	1	3	0	3	1	3	1	8			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr10:50121549G>A	uc001jhd.3	-	0	732	c.652C>T	c.(652-654)Cgg>Tgg	p.R218W	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.R218W	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	218						cytoplasm		p.A217T(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AGGTTGTCCCGGGCGTTTTGG	0.498													A	50121549	G	A	50121549	3	1	21	1	0	0	0	0	1	0	0	0	9044	1115	39	1	141	1	LRRC18	10	50121549	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		50121549	85413198	29	1288											
OR56B1	387748	broad.mit.edu	37	chr11	5758585	5758585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagatgaaggctactttgaTtccagttctacttaatgtgt	11	15	9	6	0	1	3	0	2	1	1	2	4	2	3	1	1	2	2	1	1	4	6			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:5758585T>C	uc001mbt.2	+	0	908	c.839T>C	c.(838-840)aTt>aCt	p.I280T	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005180	NP_001005180	Q8NGI3	O56B1_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 1 (OR56B1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GCTACTTTGATTCCAGTTCTA	0.428													C	5758585	T	C	5758585	3	2	21	1	0	0	0	0	1	0	0	0	11213	1493	52	3	841	3	OR56B1	11	5758585	Missense_Mutation	SNP	T	TCGA-06-0142-01A-01D-1490-08		5758585	129247931	30	1289											
TRPC6	7225	broad.mit.edu	37	chr11	101323720	101323720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctcttgatttggttccatgGataatttctctccaagttct	7	18	6	10	0	3	1	0	1	3	0	6	2	5	2	3	2	0	2	3	2	2	6			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr11:101323720G>A	uc001pgk.4	-	12	3187	c.2762C>T	c.(2761-2763)tCc>tTc	p.S921F	TRPC6_uc009ywy.3_Missense_Mutation_p.S805F	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	921					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TGGTTCCATGGATAATTTCTC	0.348													A	101323720	G	A	101323720	3	1	21	1	0	0	0	0	1	0	0	0	16684	1174	41	2	37	2	TRPC6	11	101323720	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	95565135	101323720	33682796	31	1290											
ITGA5	3678	broad.mit.edu	37	chr12	54793512	54793512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggcccgagctcacagcGcagcctgaaacactcagcct	10	4	11	16	2	2	1	2	1	0	0	2	2	2	1	3	2	5	2	3	2	1	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr12:54793512G>A	uc001sga.3	-	26	2826	c.2758C>T	c.(2758-2760)Cgc>Tgc	p.R920C		NM_002205	NP_002196	P08648	ITA5_HUMAN	Homo sapiens integrin, alpha 5 (fibronectin receptor, alpha polypeptide) (ITGA5), mRNA.	920					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding	p.L919L(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						AGCTCACAGCGCAGCCTGAAA	0.552											OREG0021897	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	54793512	G	A	54793512	3	1	21	1	0	0	0	0	1	0	0	0	7937	1087	38	1	407	1	ITGA5	12	54793512	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		54793512	79058383	32	1291											
OR4K13	390433	broad.mit.edu	37	chr14	20502539	20502539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtaatggaggggtttgcAtatggcaacatacctgtcta	11	12	11	7	0	1	0	0	0	1	0	1	1	1	1	1	4	3	4	1	4	5	5			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:20502539A>G	uc010tkz.2	-	0	379	c.379T>C	c.(379-381)Tgc>Cgc	p.C127R		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGGGGTTTGCATATGGCAACA	0.478													G	20502539	A	G	20502539	3	3	21	1	0	0	0	0	1	0	0	0	11144	217	8	3	537	3	OR4K13	14	20502539	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08		20502539	86847001	33	1292											
NID2	22795	broad.mit.edu	37	chr14	52535489	52535489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggctgaacttacgtagAggttgctgaatcgggcttcg	8	10	16	7	3	0	3	0	2	0	1	2	3	0	3	0	4	3	5	0	4	4	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:52535489A>G	uc001wzo.3	-	0	458	c.224T>C	c.(223-225)cTc>cCc	p.L75P	NID2_uc010tqs.2_Missense_Mutation_p.L75P|NID2_uc010tqt.1_Missense_Mutation_p.L75P|NID2_uc001wzp.3_Missense_Mutation_p.L75P	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	75						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					ACTTACGTAGAGGTTGCTGAA	0.612													G	52535489	A	G	52535489	3	3	21	1	0	0	0	0	1	0	0	0	10491	304	11	3	3991	3	NID2	14	52535489	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08	32032950	52535489	54814051	34	1293											
OTX2	5015	broad.mit.edu	37	chr14	57269073	57269073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcgattcttaaaccataCcttggaagggaaagaaaatt	15	12	7	7	1	2	1	0	0	2	1	3	4	2	3	2	2	2	0	2	2	7	6			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:57269073C>T	uc001xcq.3	-	5	548	c.274_splice	c.e5-1	p.V92_splice	OTX2_uc001xcp.3_Splice_Site_p.V84_splice|OTX2_uc021rtm.1_Splice_Site|OTX2_uc010aou.3_Splice_Site_p.V84_splice	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	84					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					TTAAACCATACCTTGGAAGGG	0.418													T	57269073	C	T	57269073	3	4	21	1	0	0	0	0	1	0	0	0	11397	521	18	2	623	2	OTX2	14	57269073	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	4733584	57269073	50080467	35	1294											
TMEM229B	161145	broad.mit.edu	37	chr14	67940183	67940183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagggctagggcgccgctgGgctccccgggctcagcgtcc	3	5	16	17	4	1	0	1	0	0	0	3	0	3	0	5	4	1	4	5	4	1	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:67940183G>A	uc001xjk.3	-	2	868	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.P153L	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	153						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GGCGCCGCTGGGCTCCCCGGG	0.647													A	67940183	G	A	67940183	3	1	21	1	0	0	0	0	1	0	0	0	16248	1232	43	2	49	2	TMEM229B	14	67940183	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	10671110	67940183	39409357	36	1295											
KLC1	3831	broad.mit.edu	37	chr14	104135871	104135871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaataaatacaaagatgCagctaacctactgaatgatg	18	9	7	7	0	1	4	1	2	0	2	1	4	1	4	1	0	5	2	1	0	8	4			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr14:104135871C>A	uc001yno.3	+	5	1129	c.821C>A	c.(820-822)gCa>gAa	p.A274E	KLC1_uc010tyd.1_Missense_Mutation_p.A433E|KLC1_uc010tye.1_Missense_Mutation_p.A270E|KLC1_uc001ynm.1_Missense_Mutation_p.A274E|KLC1_uc010tyf.2_Missense_Mutation_p.A274E	NM_182923	NP_891553	Q07866	KLC1_HUMAN	Homo sapiens kinesin light chain 1 (KLC1), transcript variant 2, mRNA.	274					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				TACAAAGATGCAGCTAACCTA	0.328													A	104135871	C	A	104135871	3	1	21	1	0	0	0	0	1	0	0	0	8391	710	25	4	839	4	KLC1	14	104135871	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	36195688	104135871	3213669	37	1296											
HDC	3067	broad.mit.edu	37	chr15	50534668	50534668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagtggcttctgagcaCtcactggcacactgttgcaa	8	10	12	11	0	2	1	1	1	1	0	2	1	2	1	0	3	2	6	0	3	1	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:50534668C>A	uc001zxz.3	-	11	2120	c.1778G>T	c.(1777-1779)aGt>aTt	p.S593I	HDC_uc001zxy.3_Missense_Mutation_p.S336I|HDC_uc010uff.2_Missense_Mutation_p.S560I	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	593					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CTTCTGAGCACTCACTGGCAC	0.532													A	50534668	C	A	50534668	3	1	21	1	0	0	0	0	1	0	0	0	7070	565	20	4	214	4	HDC	15	50534668	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		50534668	51996724	38	1297											
MESP2	145873	broad.mit.edu	37	chr15	90321328	90321328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccagagccctgtctgtcGctgggagctccatctctcct	4	12	9	16	1	3	1	0	0	3	1	8	2	5	2	4	1	2	2	4	1	0	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr15:90321328G>A	uc002bon.3	+	1	957	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MESP2_uc010uqa.2_Silent_p.S21S	NM_001039958	NP_001035047	Q0VG99	MESP2_HUMAN	Homo sapiens mesoderm posterior 2 homolog (mouse) (MESP2), mRNA.	319					Notch signaling pathway	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			CCTGTCTGTCGCTGGGAGCTC	0.597													A	90321328	G	A	90321328	2	1	21	1	0	0	0	0	0	0	0	1	9558	1074	38	1		1	MESP2	15	90321328	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	39786660	90321328	12210064	39	1298											
PLCG2	5336	broad.mit.edu	37	chr16	81944227	81944227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttcagcagcatctatgcCctcatccagcactaccgcga	10	8	6	17	2	3	0	2	0	1	0	4	1	4	0	4	0	5	3	4	0	2	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr16:81944227C>T	uc002fgt.3	+	17	2014	c.1836C>T	c.(1834-1836)gcC>gcT	p.A612A	PLCG2_uc010chg.1_Silent_p.A612A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	612	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GCATCTATGCCCTCATCCAGC	0.642													T	81944227	C	T	81944227	2	4	21	1	0	0	0	0	0	0	0	1	12113	610	22	2		2	PLCG2	16	81944227	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08		81944227	8410526	40	1299											
DNAH2	146754	broad.mit.edu	37	chr17	7668816	7668816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggagaaattcaagacaggCctgatccactcggcagatga	15	6	11	9	1	1	5	1	2	0	3	3	6	2	5	2	3	0	1	2	3	3	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:7668816C>T	uc002giu.1	+	19	3458	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1148	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TCAAGACAGGCCTGATCCACT	0.463													T	7668816	C	T	7668816	2	4	21	1	0	0	0	0	0	0	0	1	4641	726	26	2		2	DNAH2	17	7668816	Silent	SNP	C	TCGA-06-0142-01A-01D-1490-08		7668816	73526394	41	1300											
MYH4	4622	broad.mit.edu	37	chr17	10352234	10352234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcaggcagcattagatcGttccacatcaatcatgaggt	12	11	9	9	1	2	2	2	1	0	1	4	2	3	2	1	2	2	4	1	2	3	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:10352234G>A	uc002gmn.3	-	30	4423	c.4312C>T	c.(4312-4314)Cga>Tga	p.R1438*	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1438					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCATTAGATCGTTCCACATCA	0.438													A	10352234	G	A	10352234	4	1	21	1	0	0	0	0	0	1	0	0	10113	1153	40	1	1547	1	MYH4	17	10352234	Nonsense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	2683418	10352234	70842976	42	1301											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								-	62500102	ACAG	-	62500099	8	5	21	1	0	1	0	1	0	0	1	0	4401	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-06-0142-01A-01D-1490-08	52147865	62500099	18695111	43	1302											
CPAMD8	27151	broad.mit.edu	37	chr19	17122460	17122460	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaatacagaagcgccccgGccgtccacggtcaccgaggt	10	5	12	14	5	1	2	1	1	0	1	2	3	2	2	5	3	2	0	5	3	3	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:17122460G>T	uc002nfb.3	-	3	548	c.516C>A	c.(514-516)ggC>ggA	p.G172G		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	125						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGCGCCCCGGCCGTCCACGG	0.672													T	17122460	G	T	17122460	2	4	21	1	0	0	0	0	0	0	0	1	3826	1190	42	4		4	CPAMD8	19	17122460	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08		17122460	42006523	44	1303											
ZNF626	199777	broad.mit.edu	37	chr19	20807475	20807475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagtacttaaaagctttgCcacattcttcacatttgtag	12	14	7	8	0	2	0	1	0	1	0	2	1	2	1	1	1	3	3	1	1	4	7			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:20807475C>G	uc002npb.1	-	3	1358	c.1208G>C	c.(1207-1209)gGc>gCc	p.G403A	ZNF626_uc002npc.1_Missense_Mutation_p.G327A	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AAAAGCTTTGCCACATTCTTC	0.398													G	20807475	C	G	20807475	3	3	21	1	0	0	0	0	1	0	0	0	18151	739	26	4	382	4	ZNF626	19	20807475	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	3685015	20807475	38321508	45	1304											
PRODH2	58510	broad.mit.edu	37	chr19	36303630	36303630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaaggtggaaggccccGccatcaaagctcagggactg	10	6	12	13	1	2	0	2	0	0	0	2	2	2	2	4	4	1	1	4	4	3	1			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:36303630G>A	uc002obx.1	-	1	324	c.306C>T	c.(304-306)ggC>ggT	p.G102G		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	102					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGAAGGCCCCGCCATCAAAGC	0.652													A	36303630	G	A	36303630	2	1	21	1	0	0	0	0	0	0	0	1	12635	1074	38	1		1	PRODH2	19	36303630	Silent	SNP	G	TCGA-06-0142-01A-01D-1490-08	15496155	36303630	22825353	46	1305											
PSG3	5669	broad.mit.edu	37	chr19	43376102	43376102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catccaccacaggtagcttgCgtctggagtctcagggtcac	8	9	11	13	1	3	0	2	0	2	0	5	1	4	1	2	3	2	2	2	3	1	2			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:43376102C>T	uc002ovd.1	-	2	664	c.526G>A	c.(526-528)Gca>Aca	p.A176T	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.A176T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Intron|PSG3_uc002ova.2_Intron|PSG3_uc002ouz.2_Missense_Mutation_p.A176T|PSG3_uc002ovb.3_Missense_Mutation_p.A176T	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	176	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region		p.A176T(1)|p.D175D(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AGGTAGCTTGCGTCTGGAGTC	0.527													T	43376102	C	T	43376102	3	4	21	1	0	0	0	0	1	0	0	0	12741	768	27	1		1	PSG3	19	43376102	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	7072472	43376102	15752881	47	1306											
ZNF8	7554	broad.mit.edu	37	chr19	58806753	58806753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaagagctctgcaggcGgagcaaaggcagggcagccg	12	2	16	11	2	1	2	0	0	1	2	1	3	1	3	2	4	4	5	2	4	2	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr19:58806753G>A	uc002qry.1	+	3	1709	c.1579G>A	c.(1579-1581)Gga>Aga	p.G527R	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		CTCTGCAGGCGGAGCAAAGGC	0.557													A	58806753	G	A	58806753	3	1	21	1	0	0	0	0	1	0	0	0	18266	1117	39	1	1593	1	ZNF8	19	58806753	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08	15430651	58806753	322230	48	1307											
GTSF1L	149699	broad.mit.edu	37	chr20	42355070	42355070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagacctgctgggtgtcatCgttctgctctgaactaggag	7	12	13	9	1	3	2	1	2	2	1	4	4	3	3	1	2	3	3	1	2	2	2	rs143516837	byFrequency	TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr20:42355070C>T	uc002xld.3	-	0	573	c.265G>A	c.(265-267)Gat>Aat	p.D89N	GTSF1L_uc002xlc.3_Missense_Mutation_p.D89N	NM_176791	NP_789761	Q9H1H1	GTSFL_HUMAN	Homo sapiens gametocyte specific factor 1-like (GTSF1L), transcript variant 1, mRNA.	89							metal ion binding	p.D89G(1)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TGGGTGTCATCGTTCTGCTCT	0.517													T	42355070	C	T	42355070	3	4	21	1	0	0	0	0	1	0	0	0	6942	884	31	1	185	1	GTSF1L	20	42355070	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		42355070	20670450	49	1308											
COL6A2	1292	broad.mit.edu	37	chr21	47537831	47537831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagggagtccaggggagcGaggagaccaaggcggcaagg	12	1	20	8	2	0	1	0	0	0	1	1	5	1	3	2	7	2	2	2	7	2	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr21:47537831G>A	uc002zia.1	+	11	1179	c.1097G>A	c.(1096-1098)cGa>cAa	p.R366Q	COL6A2_uc002zhz.1_Missense_Mutation_p.R366Q|COL6A2_uc002zhy.1_Missense_Mutation_p.R366Q	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	366	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCAGGGGAGCGAGGAGACCAA	0.682													A	47537831	G	A	47537831	3	1	21	1	0	0	0	0	1	0	0	0	3731	1058	37	1	1139	1	COL6A2	21	47537831	Missense_Mutation	SNP	G	TCGA-06-0142-01A-01D-1490-08		47537831	592064	50	1309											
EMID1	129080	broad.mit.edu	37	chr22	29621149	29621149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctctgcctccttggagcCcatgtggtcgggcagtacca	5	11	11	14	1	1	0	0	0	1	0	4	1	3	1	5	3	3	2	5	3	1	3			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:29621149C>T	uc003aem.3	+	3	422	c.347C>T	c.(346-348)cCc>cTc	p.P116L	EMID1_uc003aen.3_Missense_Mutation_p.P114L	NM_133455	NP_597712	Q96A84	EMID1_HUMAN	Homo sapiens EMI domain containing 1 (EMID1), mRNA.	114						collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						TCCTTGGAGCCCATGTGGTCG	0.637													T	29621149	C	T	29621149	3	4	21	1	0	0	0	0	1	0	0	0	5132	623	22	2	361	2	EMID1	22	29621149	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08		29621149	21683417	51	1310											
SFI1	9814	broad.mit.edu	37	chr22	31985517	31985517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacagactctggcgatggCgccaccaggaaaatgtcctc	11	6	12	12	2	1	1	0	0	1	1	3	4	2	3	3	4	1	0	3	4	3	0			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chr22:31985517C>T	uc003ale.3	+	14	1891	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	SFI1_uc003ald.1_Missense_Mutation_p.R476C|SFI1_uc003alf.3_Missense_Mutation_p.R469C|SFI1_uc003alg.3_Missense_Mutation_p.R418C|SFI1_uc011alp.2_Missense_Mutation_p.R418C|SFI1_uc011alq.2_Missense_Mutation_p.R445C|SFI1_uc003alh.3_Non-coding_Transcript|SFI1_uc010gwi.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	500					G2/M transition of mitotic cell cycle	centriole|cytosol		p.R500H(1)		NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGGCGATGGCGCCACCAGGA	0.532													T	31985517	C	T	31985517	3	4	21	1	0	0	0	0	1	0	0	0	14249	768	27	1	1552	1	SFI1	22	31985517	Missense_Mutation	SNP	C	TCGA-06-0142-01A-01D-1490-08	2364368	31985517	19319049	52	1311											
MTMR8	55613	broad.mit.edu	37	chrX	63569901	63569901	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttccaaccaccgttcccAaggtaacagatttaggaacc	14	8	6	13	1	0	1	0	0	0	1	2	2	2	2	5	2	4	2	5	2	6	5			TCGA-06-0142-01A-01D-1490-08	TCGA-06-0142-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4bce79ce-c59c-4d86-b25f-28c8edda1651	6fe9d3fc-aebc-4e05-8eb2-c5fd4f2bc0c2	g.chrX:63569901A>C	uc004dvs.3	-	4	608	c.518T>G	c.(517-519)tTg>tGg	p.L173W	MTMR8_uc011mou.2_Missense_Mutation_p.L173W	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	173	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						CACCGTTCCCAAGGTAACAGA	0.348													C	63569901	A	C	63569901	3	2	21	1	0	0	0	0	1	0	0	0	10025	131	5	5	1636	5	MTMR8	23	63569901	Missense_Mutation	SNP	A	TCGA-06-0142-01A-01D-1490-08		63569901	91700659	53	1312											
CAMTA1	23261	broad.mit.edu	37	chr1	7798426	7798426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcacaggtgcgtccaCgggaaccaatgagtgtcctg	9	8	11	13	2	1	1	1	1	0	0	3	2	3	2	4	2	2	0	4	2	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:7798426C>T	uc001aoi.3	+	15	4273	c.4066C>T	c.(4066-4068)Cgg>Tgg	p.R1356W	CAMTA1_uc010nzv.1_Missense_Mutation_p.R443W|CAMTA1_uc001aok.4_Missense_Mutation_p.R399W|CAMTA1_uc001aoj.3_Missense_Mutation_p.R312W	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GGTGCGTCCACGGGAACCAAT	0.512			T	WWTR1	epitheliod hemangioendothelioma								T	7798426	C	T	7798426	3	4	22	1	0	0	0	0	1	0	0	0	2639	527	19	1	4128	1	CAMTA1	1	7798426	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		7798426	241452195	1	1313											
PADI3	51702	broad.mit.edu	37	chr1	17575699	17575699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggtgtgtgtggctggcGtggagaccctcgtggacatt	4	10	18	9	4	0	1	0	0	0	1	1	3	0	2	1	5	0	1	1	5	0	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:17575699G>A	uc001bai.3	+	0	107	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	23					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	TGTGGCTGGCGTGGAGACCCT	0.617													A	17575699	G	A	17575699	3	1	22	1	0	0	0	0	1	0	0	0	11455	1145	40	1	69	1	PADI3	1	17575699	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9777273	17575699	231674922	2	1314											
GRHL3	57822	broad.mit.edu	37	chr1	24663202	24663202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggacagctacctgttacCcaccactgatatgtatgata	11	12	8	10	0	0	2	0	2	0	0	0	3	0	3	3	1	3	3	3	1	5	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:24663202C>T	uc021oiw.1	+	3	727	c.497C>T	c.(496-498)cCc>cTc	p.P166L	GRHL3_uc001bix.3_Missense_Mutation_p.P166L|GRHL3_uc021oix.1_Missense_Mutation_p.P120L|GRHL3_uc001biy.3_Missense_Mutation_p.P171L|GRHL3_uc001biz.3_Missense_Mutation_p.P73L	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	166					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TACCTGTTACCCACCACTGAT	0.602													T	24663202	C	T	24663202	3	4	22	1	0	0	0	0	1	0	0	0	6820	623	22	2	547	2	GRHL3	1	24663202	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	7087503	24663202	224587419	3	1315											
MCOLN3	55283	broad.mit.edu	37	chr1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcataagcatgattcccaaCggagacattgtatagctgca	13	10	8	10	1	1	2	1	1	0	1	2	3	2	2	1	1	4	4	1	1	4	5	rs144793042	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:85499910C>T	uc001dkp.3	-	3	568	c.421G>A	c.(421-423)Gtt>Att	p.V141I	MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	141						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													T	85499910	C	T	85499910	3	4	22	1	0	0	0	0	1	0	0	0	9472	536	19	1	1280	1	MCOLN3	1	85499910	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	60836708	85499910	163750711	4	1316											
RGL1	23179	broad.mit.edu	37	chr1	183895313	183895313	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgacttcattttgcgcAaaaagaactccatggaagaa	15	11	7	8	1	1	3	1	1	0	2	2	4	2	4	1	1	2	1	1	1	5	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:183895313A>T	uc001gqm.3	+	18	2760	c.2299A>T	c.(2299-2301)Aaa>Taa	p.K767*	RGL1_uc010pog.2_Nonsense_Mutation_p.K730*|RGL1_uc010poh.2_Nonsense_Mutation_p.K730*|RGL1_uc001gqo.3_Nonsense_Mutation_p.K732*|RGL1_uc010poi.2_Nonsense_Mutation_p.K703*	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	732					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.R766H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CATTTTGCGCAAAAAGAACTC	0.443													T	183895313	A	T	183895313	4	4	22	1	0	0	0	0	0	1	0	0	13364	131	5	5	2369	5	RGL1	1	183895313	Nonsense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	98395403	183895313	65355308	5	1317											
DISP1	84976	broad.mit.edu	37	chr1	223116326	223116326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaaaagtgagtccaaatgGatgcctgcaacttaatggca	16	8	9	8	0	0	1	0	1	0	0	1	2	1	2	2	2	4	2	2	2	6	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:223116326G>A	uc001hnu.2	+	3	487	c.161G>A	c.(160-162)gGa>gAa	p.G54E		NM_032890	NP_116279	Q96F81	DISP1_HUMAN	Homo sapiens dispatched homolog 1 (Drosophila) (DISP1), mRNA.	54					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AGTCCAAATGGATGCCTGCAA	0.507													A	223116326	G	A	223116326	3	1	22	1	0	0	0	0	1	0	0	0	4578	1174	41	2	163	2	DISP1	1	223116326	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	39221013	223116326	26134295	6	1318											
RYR2	6262	broad.mit.edu	37	chr1	237780709	237780709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtttccgatacaacgaaGtcatgcaagccttaaacatg	15	9	7	10	3	1	0	1	0	0	0	2	2	2	0	2	0	6	2	2	0	7	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237780709G>C	uc001hyl.1	+	37	5959	c.5839G>C	c.(5839-5841)Gtc>Ctc	p.V1947L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1947	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATACAACGAAGTCATGCAAGC	0.448													C	237780709	G	C	237780709	3	2	22	1	0	0	0	0	1	0	0	0	13860	1029	36	4	5989	4	RYR2	1	237780709	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	14664383	237780709	11469912	7	1319											
RYR2	6262	broad.mit.edu	37	chr1	237863752	237863752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattggccagcatcagttcGgagaagacctaatatgtatg	13	11	10	7	1	1	2	1	0	0	2	2	3	1	2	2	2	1	3	2	2	5	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr1:237863752G>A	uc001hyl.1	+	64	9472	c.9352G>A	c.(9352-9354)Gga>Aga	p.G3118R	RYR2_uc010pxz.1_Missense_Mutation_p.G73R	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3118					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATCAGTTCGGAGAAGACCT	0.373													A	237863752	G	A	237863752	3	1	22	1	0	0	0	0	1	0	0	0	13860	1117	39	1	9610	1	RYR2	1	237863752	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	83043	237863752	11386869	8	1320											
C2orf78	388960	broad.mit.edu	37	chr2	74040759	74040759	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctacagccatcagccTctggcacctccttccagcca	8	8	7	18	0	2	0	1	0	1	0	4	0	4	0	6	2	4	2	6	2	1	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:74040759T>A	uc002sjr.1	+	1	374	c.253T>A	c.(253-255)Tct>Act	p.S85T		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	85	Ser-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						GCCATCAGCCTCTGGCACCTC	0.527													A	74040759	T	A	74040759	3	1	22	1	0	0	0	0	1	0	0	0	2216	1551	54	5	259	5	C2orf78	2	74040759	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		74040759	169158614	9	1321											
EDAR	10913	broad.mit.edu	37	chr2	109526984	109526984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcggagaacatcaccacGttgtctgcagggaaatgggg	10	9	13	9	2	3	1	1	0	2	1	4	3	3	2	1	4	2	2	1	4	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:109526984G>A	uc010fjn.3	-	8	1378	c.831C>T	c.(829-831)aaC>aaT	p.N277N	EDAR_uc010yws.2_Silent_p.N277N|EDAR_uc002teq.4_Silent_p.N245N	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	245					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ACATCACCACGTTGTCTGCAG	0.552													A	109526984	G	A	109526984	2	1	22	1	0	0	0	0	0	0	0	1	4944	1136	40	1		1	EDAR	2	109526984	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	35486225	109526984	133672389	10	1322											
PCDP1	200373	broad.mit.edu	37	chr2	120385326	120385326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtgctgcccttcgctttCccagactgcagcccacccca	6	8	9	18	1	0	1	0	0	0	1	2	2	1	1	5	1	4	3	5	1	0	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:120385326C>T	uc002tmb.3	+	16	1868	c.756C>T	c.(754-756)ttC>ttT	p.F252F	PCDP1_uc010yyq.2_Silent_p.F382F	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	538						cilium	calmodulin binding					Colorectal(110;0.196)					CCTTCGCTTTCCCAGACTGCA	0.557													T	120385326	C	T	120385326	2	4	22	1	0	0	0	0	0	0	0	1	11648	854	30	2		2	PCDP1	2	120385326	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	10858342	120385326	122814047	11	1323											
POTEE	445582	broad.mit.edu	37	chr2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcagggacactgacGtgaacaagaaggacaagcaa	16	5	11	9	1	2	3	2	2	0	1	2	5	2	5	0	2	3	2	0	2	5	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:131976471G>A	uc002tsn.2	+	0	548	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	166							ATP binding										GGACACTGACGTGAACAAGAA	0.592													A	131976471	G	A	131976471	3	1	22	1	0	0	0	0	1	0	0	0	12341	1145	40	1	498	1	POTEE	2	131976471	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	11591145	131976471	111222902	12	1324											
THSD7B	80731	broad.mit.edu	37	chr2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgcttgttccttacgctCgcggtgaagtcaagcctcgg	5	12	13	11	4	1	1	1	1	0	0	4	1	2	1	2	2	3	3	2	2	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:137814211C>T	uc002tva.1	+	1	268	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542													T	137814211	C	T	137814211	3	4	22	1	0	0	0	0	1	0	0	0	15980	884	31	1	274	1	THSD7B	2	137814211	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	5837740	137814211	105385162	13	1325											
XIRP2	129446	broad.mit.edu	37	chr2	168101563	168101563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttcagaggaagttttgAaaaagatcaaaaccttaaaa	19	10	7	5	0	2	3	2	1	0	2	2	4	2	4	1	1	1	2	1	1	8	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:168101563A>G	uc002udx.3	+	8	3750	c.3661A>G	c.(3661-3663)Aaa>Gaa	p.K1221E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K1046E|XIRP2_uc010fpq.3_Missense_Mutation_p.K999E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1046					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAAGTTTTGAAAAAGATCAA	0.308													G	168101563	A	G	168101563	3	3	22	1	0	0	0	0	1	0	0	0	17532	247	9	3	3691	3	XIRP2	2	168101563	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	30287352	168101563	75097810	14	1326											
TTN	7273	broad.mit.edu	37	chr2	179469622	179469622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcttggtggggatgggCggtctggaaaggaatcaaca	10	10	16	5	1	3	0	1	0	2	0	3	4	3	3	0	7	1	0	0	7	3	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:179469622C>T	uc021vsy.1	-	229	46715	c.46490G>A	c.(46489-46491)cGc>cAc	p.R15497H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9192H|TTN_uc021vta.1_Missense_Mutation_p.R9125H|TTN_uc021vtb.1_Missense_Mutation_p.R9000H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16424	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S15496T(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGATGGGCGGTCTGGAAA	0.418													T	179469622	C	T	179469622	3	4	22	1	0	0	0	0	1	0	0	0	16837	768	27	1	53827	1	TTN	2	179469622	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	11368059	179469622	63729751	15	1327											
UGT1A1	54579	broad.mit.edu	37	chr2	234621856	234621856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtacatcaaagaagagaaCtttttcaccctgacaacgta	16	10	6	9	1	2	3	2	1	0	2	2	4	2	3	1	0	3	2	1	0	6	4	rs17874940		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr2:234621856C>T	uc002vuw.3	+	0	219	c.219C>T	c.(217-219)aaC>aaT	p.N73N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Silent_p.N73N	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	72					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AAGAAGAGAACTTTTTCACCC	0.512													T	234621856	C	T	234621856	2	4	22	1	0	0	0	0	0	0	0	1	17046	564	20	2		2	UGT1A1	2	234621856	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	55152234	234621856	8577517	16	1328											
GRM7	2917	broad.mit.edu	37	chr3	6903093	6903093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatggtccagctgaggaaGctgctccgcgtcctgacttt	7	10	12	12	2	0	2	0	2	0	0	3	3	3	3	3	2	4	4	3	2	1	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:6903093G>T	uc003bqm.2	+	0	292	c.18G>T	c.(16-18)aaG>aaT	p.K6N	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.K6N|GRM7_uc003bql.2_Missense_Mutation_p.K6N	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	6					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	AGCTGAGGAAGCTGCTCCGCG	0.721													T	6903093	G	T	6903093	3	4	22	1	0	0	0	0	1	0	0	0	6857	962	34	4	20	4	GRM7	3	6903093	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		6903093	191119337	17	1329											
PRKCD	5580	broad.mit.edu	37	chr3	53213676	53213676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccacatctatgaggggCgcgtcatccagattgtgcta	9	10	11	11	2	2	2	1	1	1	1	3	2	3	2	2	2	2	1	2	2	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:53213676C>T	uc003dgl.3	+	3	552	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	PRKCD_uc003dgm.3_Missense_Mutation_p.R67C|PRKCD_uc003dgn.2_Missense_Mutation_p.R67C	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	67	C2.	Interaction with phosphotyrosine- containing peptide.			activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding	p.R67C(2)		breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		CTATGAGGGGCGCGTCATCCA	0.582													T	53213676	C	T	53213676	3	4	22	1	0	0	0	0	1	0	0	0	12595	768	27	1	205	1	PRKCD	3	53213676	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	46310583	53213676	144808754	18	1330											
ST6GAL1	6480	broad.mit.edu	37	chr3	186791960	186791960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtggtaccagaatcCggattataatttctttaaca	12	16	6	7	1	2	1	1	0	1	1	3	2	3	2	2	2	2	1	2	2	5	8			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr3:186791960C>T	uc003frb.3	+	6	1451	c.818C>T	c.(817-819)cCg>cTg	p.P273L	ST6GAL1_uc003frc.3_Missense_Mutation_p.P42L|ST6GAL1_uc003frd.3_Missense_Mutation_p.P273L	NM_173216	NP_775323	P15907	SIAT1_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 1 (ST6GAL1), transcript variant 1, mRNA.	273					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.P273L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		TACCAGAATCCGGATTATAAT	0.488													T	186791960	C	T	186791960	3	4	22	1	0	0	0	0	1	0	0	0	15317	652	23	1	832	1	ST6GAL1	3	186791960	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	133578284	186791960	11230470	19	1331											
UGT2A1	10941	broad.mit.edu	37	chr4	70455275	70455275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttggctcctttgtggcGcatgacaaactcgatccaga	8	11	11	11	2	0	2	0	1	0	1	3	3	2	2	2	2	2	3	2	2	1	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:70455275G>A	uc011caq.2	-	6	2013	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	UGT2A1_uc010ihu.3_Missense_Mutation_p.R467C|UGT2A1_uc003hem.4_Missense_Mutation_p.R467C|UGT2A1_uc010ihs.3_Missense_Mutation_p.R476C|UGT2A1_uc021xox.1_Missense_Mutation_p.R432C|UGT2A1_uc010iht.3_Missense_Mutation_p.R423C	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	467					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CCTTTGTGGCGCATGACAAAC	0.478													A	70455275	G	A	70455275	3	1	22	1	0	0	0	0	1	0	0	0	17055	1087	38	1	188	1	UGT2A1	4	70455275	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		70455275	120699001	20	1332											
FRAS1	80144	broad.mit.edu	37	chr4	79362349	79362349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcaccactctcatttCaccatttttttgctactgat	9	15	6	11	0	2	2	2	1	1	1	3	3	2	2	2	1	3	2	2	1	1	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:79362349C>A	uc003hlb.2	+	40	6003	c.5563C>A	c.(5563-5565)Cac>Aac	p.H1855N	FRAS1_uc003hkw.3_Missense_Mutation_p.H1855N|FRAS1_uc010ijj.2_Missense_Mutation_p.H275N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1854					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACTCTCATTTCACCATTTTTT	0.418													A	79362349	C	A	79362349	3	1	22	1	0	0	0	0	1	0	0	0	6093	826	29	4	5725	4	FRAS1	4	79362349	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	8907074	79362349	111791927	21	1333											
OSTC	58505	broad.mit.edu	37	chr4	109571929	109571929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgctctggtggtggtgTcttacttcctcatcaccgga	5	15	11	10	1	4	0	2	0	2	0	5	1	5	1	2	4	2	2	2	4	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:109571929T>C	uc003hzb.1	+	0	189	c.118T>C	c.(118-120)Tct>Cct	p.S40P		NM_021227	NP_067050	Q9NRP0	OSTC_HUMAN	Homo sapiens oligosaccharyltransferase complex subunit (OSTC), mRNA.	40						integral to membrane|oligosaccharyltransferase complex				breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GGTGGTGGTGTCTTACTTCCT	0.612													C	109571929	T	C	109571929	3	2	22	1	0	0	0	0	1	0	0	0	11372	1667	58	3	120	3	OSTC	4	109571929	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	30209580	109571929	81582347	22	1334											
DCHS2	54798	broad.mit.edu	37	chr4	155226289	155226289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatttctctgtcaagtatGgtggttgtcactacctctcc	7	16	8	10	0	4	1	2	1	2	0	6	1	4	1	2	2	1	2	2	2	4	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:155226289G>A	uc003inw.2	-	15	3990	c.3990C>T	c.(3988-3990)acC>acT	p.T1330T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1330	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T1329K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGTCAAGTATGGTGGTTGTCA	0.343													A	155226289	G	A	155226289	2	1	22	1	0	0	0	0	0	0	0	1	4322	1335	47	2		2	DCHS2	4	155226289	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	45654360	155226289	35927987	23	1335											
TKTL2	84076	broad.mit.edu	37	chr4	164393803	164393803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatacactctatgaaacGctcagggtgttctttcctga	12	13	7	9	1	3	2	1	2	2	0	4	2	4	2	1	1	2	2	1	1	5	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:164393803G>A	uc003iqp.4	-	0	1245	c.1084C>T	c.(1084-1086)Cgt>Tgt	p.R362C		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	362						cytoplasm	metal ion binding|transketolase activity	p.R362H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TCTATGAAACGCTCAGGGTGT	0.453													A	164393803	G	A	164393803	3	1	22	1	0	0	0	0	1	0	0	0	16036	1087	38	1	800	1	TKTL2	4	164393803	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9167514	164393803	26760473	24	1336											
IRF2	3660	broad.mit.edu	37	chr4	185329382	185329382	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcatactcaggagaaagAtcacttactccattactaag	15	9	6	11	1	2	2	2	0	0	2	3	3	3	2	2	1	3	1	2	1	5	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr4:185329382A>G	uc003iwf.4	-	5	659	c.459T>C	c.(457-459)gaT>gaC	p.D153D		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	153					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CAGGAGAAAGATCACTTACTC	0.388													G	185329382	A	G	185329382	2	3	22	1	0	0	0	0	0	0	0	1	7886	330	12	3		3	IRF2	4	185329382	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	20935579	185329382	5824894	25	1337											
TERT	7015	broad.mit.edu	37	chr5	1280302	1280302	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcggaacgttctggctcCcacgacgtagtccatgttca	7	11	10	13	4	3	0	1	0	2	0	5	2	5	1	2	2	2	4	2	2	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1280302C>A	uc003jcb.1	-	3	1979	c.1921G>T	c.(1921-1923)Gga>Tga	p.G641*	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Nonsense_Mutation_p.G641*|TERT_uc003jca.1_Nonsense_Mutation_p.G641*|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Nonsense_Mutation_p.G93*	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	641	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTTCTGGCTCCCACGACGTAG	0.557									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				A	1280302	C	A	1280302	4	1	22	1	0	0	0	0	0	1	0	0	15864	632	22	4	1529	4	TERT	5	1280302	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		1280302	179634958	26	1338											
SLC6A3	6531	broad.mit.edu	37	chr5	1422128	1422128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggtgcagcacgccacGtctgcagaggggagtcagcg	8	5	18	10	3	2	1	1	0	1	1	2	3	2	3	1	4	4	3	1	4	0	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:1422128G>A	uc003jck.3	-	5	780	c.654_splice	c.e5-1	p.E218_splice		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	218					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCACGCCACGTCTGCAGAGG	0.667													A	1422128	G	A	1422128	3	1	22	1	0	0	0	0	1	0	0	0	14779	1159	40	1	1251	1	SLC6A3	5	1422128	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	141826	1422128	179493132	27	1339											
PCDHAC2	56147	broad.mit.edu	37	chr5	140166017	140166017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcaccttcgttggccgcGttgctcaggacctgggactg	5	9	14	13	4	1	0	1	0	0	0	2	2	1	2	3	4	1	4	3	4	0	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:140166017G>A	uc003lhb.2	+	0	142	c.142G>A	c.(142-144)Gtt>Att	p.V48I	PCDHAC2_uc003lha.2_Missense_Mutation_p.V48I|PCDHAC2_uc003lgz.3_Missense_Mutation_p.V48I	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	61	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.V48I(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTTGGCCGCGTTGCTCAGGA	0.627													A	140166017	G	A	140166017	3	1	22	1	0	0	0	0	1	0	0	0	11609	1145	40	1		1	PCDHAC2	5	140166017	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	138743889	140166017	40749243	28	1340											
FAT2	2196	broad.mit.edu	37	chr5	150924338	150924338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccaagataggggtcaattCggaaatatgtgtaatcttct	12	12	9	8	1	3	1	1	0	2	1	4	2	3	2	2	3	0	1	2	3	6	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:150924338C>T	uc003lue.4	-	8	6363	c.6350G>A	c.(6349-6351)cGa>cAa	p.R2117Q		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGTCAATTCGGAAATATGT	0.433													T	150924338	C	T	150924338	3	4	22	1	0	0	0	0	1	0	0	0	5739	884	31	1	6759	1	FAT2	5	150924338	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	10758321	150924338	29990922	29	1341											
GABRA1	2554	broad.mit.edu	37	chr5	161318009	161318009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtgattctctcacaagTctccttctggctcaacagag	10	11	8	12	0	5	2	2	1	3	1	7	3	5	2	1	1	1	1	1	1	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr5:161318009T>C	uc010jiw.3	+	8	1277	c.809T>C	c.(808-810)gTc>gCc	p.V270A	GABRA1_uc010jix.3_Missense_Mutation_p.V270A|GABRA1_uc010jiy.3_Missense_Mutation_p.V270A|GABRA1_uc003lyx.4_Missense_Mutation_p.V270A|GABRA1_uc010jiz.3_Missense_Mutation_p.V270A|GABRA1_uc010jja.3_Missense_Mutation_p.V270A|GABRA1_uc010jjb.3_Missense_Mutation_p.V270A	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	270					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CTCTCACAAGTCTCCTTCTGG	0.408													C	161318009	T	C	161318009	3	2	22	1	0	0	0	0	1	0	0	0	6212	1667	58	3	835	3	GABRA1	5	161318009	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	10393671	161318009	19597251	30	1342											
TAP1	6890	broad.mit.edu	37	chr6	32815851	32815851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgtcacctcgccagggcGtagggtgaatgtcagcccct	6	7	13	15	4	2	1	2	1	0	0	3	1	2	1	5	2	1	1	5	2	2	1	rs149070070	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:32815851G>A	uc003ocg.3	-	7	1920	c.1765C>T	c.(1765-1767)Cgc>Tgc	p.R589C	TAP1_uc011dqi.2_Missense_Mutation_p.R328C	NM_000593	NP_000584	Q03518	TAP1_HUMAN	Homo sapiens transporter 1, ATP-binding cassette, sub-family B (MDR/TAP) (TAP1), mRNA.	589	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						TCGCCAGGGCGTAGGGTGAAT	0.582													A	32815851	G	A	32815851	3	1	22	1	0	0	0	0	1	0	0	0	15647	1145	40	1	677	1	TAP1	6	32815851	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		32815851	138299216	31	1343											
RUNX2	860	broad.mit.edu	37	chr6	45514681	45514681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacctttacttacacccCgccagtcacctcaggcatgt	9	9	6	17	1	2	0	2	0	0	0	2	0	2	0	6	1	3	1	6	1	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:45514681C>T	uc011dvx.2	+	8	1415	c.1205C>T	c.(1204-1206)cCg>cTg	p.P402L	RUNX2_uc011dvy.2_Missense_Mutation_p.P380L|RUNX2_uc003oxt.3_Missense_Mutation_p.P388L	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	402	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						ACTTACACCCCGCCAGTCACC	0.577													T	45514681	C	T	45514681	3	4	22	1	0	0	0	0	1	0	0	0	13839	652	23	1	1251	1	RUNX2	6	45514681	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	12698830	45514681	125600386	32	1344											
ZNF292	23036	broad.mit.edu	37	chr6	87969728	87969728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctttgctgcctttacgatAcagcaaaacttgattctcca	10	14	6	11	1	1	1	0	1	1	0	2	2	1	1	2	0	7	3	2	0	4	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:87969728A>G	uc003plm.4	+	7	6422	c.6381A>G	c.(6379-6381)atA>atG	p.I2127M		NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	2127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCTTTACGATACAGCAAAACT	0.438													G	87969728	A	G	87969728	3	3	22	1	0	0	0	0	1	0	0	0	17927	381	14	3	6411	3	ZNF292	6	87969728	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	42455047	87969728	83145339	33	1345											
LAMA2	3908	broad.mit.edu	37	chr6	129371228	129371228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaaaacagcagcaatcCaaaccgtatgtattttagtg	16	10	6	9	1	1	0	1	0	0	0	2	0	2	0	2	0	4	4	2	0	8	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:129371228C>T	uc021zfb.1	+	1	383	c.278C>T	c.(277-279)cCa>cTa	p.P93L	LAMA2_uc003qbn.3_Missense_Mutation_p.P93L|LAMA2_uc003qbo.3_Missense_Mutation_p.P93L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	93	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.P93T(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AGCAGCAATCCAAACCGTATG	0.438													T	129371228	C	T	129371228	3	4	22	1	0	0	0	0	1	0	0	0	8665	594	21	2	284	2	LAMA2	6	129371228	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	41401500	129371228	41743839	34	1346											
GRM1	2911	broad.mit.edu	37	chr6	146720521	146720521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgtgcccgccaacttcaaCgaggccaaatatatcgcgtt	12	8	8	13	5	1	0	1	0	0	0	2	1	1	0	3	1	4	1	3	1	6	4	rs145874853	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146720521C>T	uc010khw.1	+	7	2816	c.2346C>T	c.(2344-2346)aaC>aaT	p.N782N	GRM1_uc010khv.1_Silent_p.N782N|GRM1_uc003qll.2_Silent_p.N782N|GRM1_uc011edz.1_Silent_p.N782N|GRM1_uc011eea.1_Silent_p.N782N	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	782					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.N782I(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCAACTTCAACGAGGCCAAAT	0.502													T	146720521	C	T	146720521	2	4	22	1	0	0	0	0	0	0	0	1	6851	535	19	1		1	GRM1	6	146720521	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	17349293	146720521	24394546	35	1347											
GRM1	2911	broad.mit.edu	37	chr6	146755247	146755247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatgcccagccgattcGctttagcccgcctggtagcc	6	8	13	14	3	0	0	0	0	0	0	1	3	0	2	5	3	4	2	5	3	2	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:146755247G>A	uc010khw.1	+	8	3370	c.2900G>A	c.(2899-2901)cGc>cAc	p.R967H	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	967					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R967H(2)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CAGCCGATTCGCTTTAGCCCG	0.602													A	146755247	G	A	146755247	3	1	22	1	0	0	0	0	1	0	0	0	6851	1087	38	1	2995	1	GRM1	6	146755247	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	34726	146755247	24359820	36	1348											
C6orf211	79624	broad.mit.edu	37	chr6	151789616	151789616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaacatctttggtcattgCttagcaattgcaagaaaaca	14	12	8	7	0	2	1	1	0	1	1	2	2	2	2	0	2	5	3	0	2	6	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:151789616C>G	uc003qok.1	+	4	956	c.697C>G	c.(697-699)Ctt>Gtt	p.L233V	C6orf211_uc011ees.1_Missense_Mutation_p.L114V	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	233							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		TTGGTCATTGCTTAGCAATTG	0.328													G	151789616	C	G	151789616	3	3	22	1	0	0	0	0	1	0	0	0	2376	797	28	4	715	4	C6orf211	6	151789616	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	5034369	151789616	19325451	37	1349											
MYCT1	80177	broad.mit.edu	37	chr6	153043291	153043291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcccacagtctgagccGtcctgactactggtccagta	8	10	8	15	1	1	2	0	2	1	0	4	2	4	2	4	1	2	1	4	1	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr6:153043291G>A	uc003qpc.4	+	1	619	c.611G>A	c.(610-612)cGt>cAt	p.R204H		NM_025107	NP_079383	Q8N699	MYCT1_HUMAN	Homo sapiens myc target 1 (MYCT1), mRNA.	204						nucleus		p.R204H(2)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	20		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;1.33e-10)|BRCA - Breast invasive adenocarcinoma(81;0.143)		AGTCTGAGCCGTCCTGACTAC	0.532													A	153043291	G	A	153043291	3	1	22	1	0	0	0	0	1	0	0	0	10098	1145	40	1	617	1	MYCT1	6	153043291	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	1253675	153043291	18071776	38	1350											
HDAC9	9734	broad.mit.edu	37	chr7	18788727	18788727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatacagagtatctggtcacGactgcaagaaactgggctgc	13	8	11	9	1	2	2	1	0	1	2	2	3	2	2	0	2	4	3	0	2	5	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:18788727G>A	uc003sui.3	+	12	2050	c.2009G>A	c.(2008-2010)cGa>cAa	p.R670Q	HDAC9_uc003sue.3_Missense_Mutation_p.R667Q|HDAC9_uc011jyd.2_Missense_Mutation_p.R667Q|HDAC9_uc003suh.3_Missense_Mutation_p.R667Q|HDAC9_uc003suj.3_Missense_Mutation_p.R626Q|HDAC9_uc003sua.1_Missense_Mutation_p.R645Q|HDAC9_uc010kue.1_Missense_Mutation_p.R322Q	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	667	Histone deacetylase.				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity	p.R670L(3)		breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	ATCTGGTCACGACTGCAAGAA	0.438													A	18788727	G	A	18788727	3	1	22	1	0	0	0	0	1	0	0	0	7069	1058	37	1	2110	1	HDAC9	7	18788727	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		18788727	140349936	39	1351											
ZPBP	11055	broad.mit.edu	37	chr7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatattttagttgaagacGtttaacaatttcttccacag	13	15	6	7	1	1	2	0	1	1	1	2	2	2	2	1	0	2	3	1	0	5	8			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:50097612G>A	uc003tou.3	-	3	530	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	154					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													A	50097612	G	A	50097612	3	1	22	1	0	0	0	0	1	0	0	0	18318	1145	40	1	615	1	ZPBP	7	50097612	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	31308885	50097612	109041051	40	1352											
POM121L12	285877	broad.mit.edu	37	chr7	53103630	53103630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaggaccccgccaagcCgcagcgggtggtctccgagg	7	3	14	17	4	1	0	0	0	1	0	2	2	1	1	6	4	2	1	6	4	1	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:53103630C>T	uc003tpz.3	+	0	282	c.266C>T	c.(265-267)cCg>cTg	p.P89L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	89								p.P89P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCCGCCAAGCCGCAGCGGGTG	0.692													T	53103630	C	T	53103630	3	4	22	1	0	0	0	0	1	0	0	0	12318	652	23	1	268	1	POM121L12	7	53103630	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	3006018	53103630	106035033	41	1353											
SEMA3C	10512	broad.mit.edu	37	chr7	80387693	80387693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaatggccatcccaggCgcaataagggtcccgcgcca	11	4	12	14	3	0	0	0	0	0	0	2	1	2	1	4	4	0	1	4	4	3	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:80387693C>T	uc011kgw.2	-	14	1730	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	SEMA3C_uc003uhj.3_Missense_Mutation_p.A533T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	533					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATCCCAGGCGCAATAAGGG	0.537													T	80387693	C	T	80387693	3	4	22	1	0	0	0	0	1	0	0	0	14119	768	27	1	674	1	SEMA3C	7	80387693	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	27284063	80387693	78750970	42	1354											
PDK4	5166	broad.mit.edu	37	chr7	95216404	95216404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtactttgcatacagaCgagaaattggcaagccgtaa	16	8	10	7	2	0	2	0	0	0	2	0	4	0	2	1	1	4	4	1	1	6	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:95216404C>T	uc003uoa.3	-	9	1333	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	PDK4_uc003unz.3_Missense_Mutation_p.R126H	NM_002612	NP_002603	Q16654	PDK4_HUMAN	Homo sapiens pyruvate dehydrogenase kinase, isozyme 4 (PDK4), nuclear gene encoding mitochondrial protein, mRNA.	338	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			TGCATACAGACGAGAAATTGG	0.378													T	95216404	C	T	95216404	3	4	22	1	0	0	0	0	1	0	0	0	11754	536	19	1	230	1	PDK4	7	95216404	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	14828711	95216404	63922259	43	1355											
KEL	3792	broad.mit.edu	37	chr7	142650962	142650962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattccacgtcatggaccaCgagggactgagaagggctca	12	7	12	10	2	2	1	2	1	0	1	3	5	3	3	2	3	0	1	2	3	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr7:142650962C>T	uc003wcb.3	-	8	1216	c.1006G>A	c.(1006-1008)Gtg>Atg	p.V336M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	336					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCATGGACCACGAGGGACTGA	0.537													T	142650962	C	T	142650962	3	4	22	1	0	0	0	0	1	0	0	0	8200	536	19	1	1236	1	KEL	7	142650962	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	47434558	142650962	16487701	44	1356											
TRPA1	8989	broad.mit.edu	37	chr8	72938268	72938268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccactttgcgtagaaacCaaagtggcagcttcttctct	10	12	8	11	1	2	1	0	0	2	1	4	2	3	1	2	1	3	3	2	1	3	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr8:72938268C>A	uc003xza.3	-	24	3153	c.2978G>T	c.(2977-2979)tGg>tTg	p.W993L	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	993						integral to plasma membrane		p.W993S(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GCGTAGAAACCAAAGTGGCAG	0.363													A	72938268	C	A	72938268	3	1	22	1	0	0	0	0	1	0	0	0	16678	595	21	4	393	4	TRPA1	8	72938268	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		72938268	73425754	45	1357											
DOCK8	81704	broad.mit.edu	37	chr9	286581	286581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgatgacgacttggacGtggtgttcacgccaaaggaa	11	9	12	9	3	2	2	2	2	0	0	2	5	2	4	1	3	0	1	1	3	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:286581G>A	uc003zgf.2	+	2	389	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	DOCK8_uc011lls.1_Missense_Mutation_p.V93M|DOCK8_uc022bcu.1_Missense_Mutation_p.V25M|DOCK8_uc010mgv.3_Missense_Mutation_p.V25M|DOCK8_uc010mgu.3_5'UTR|DOCK8_uc010mgt.3_Missense_Mutation_p.V25M|DOCK8_uc003zgg.3_Missense_Mutation_p.V25M|DOCK8_uc022bct.1_Non-coding_Transcript	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	93					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.V25M(1)|p.V25L(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CGACTTGGACGTGGTGTTCAC	0.498													A	286581	G	A	286581	3	1	22	1	0	0	0	0	1	0	0	0	4732	1145	40	1	287	1	DOCK8	9	286581	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		286581	140926850	46	1358											
GLIS3	169792	broad.mit.edu	37	chr9	4286000	4286000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgggggagaaaaaaatcGtttccatttttaaaaggttc	14	12	11	4	1	0	1	0	0	0	1	3	3	1	2	1	4	0	2	1	4	5	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr9:4286000G>A	uc003zhx.1	-						GLIS3_uc003zic.1_Intron|GLIS3_uc003zie.1_Intron|GLIS3_uc010mhh.1_Intron|GLIS3_uc003zid.1_Intron|GLIS3_uc010mhi.1_Intron|GLIS3_uc003zif.1_Intron|GLIS3_uc003zih.1_Intron|GLIS3_uc003zig.1_Intron|GLIS3_uc003zii.1_Silent_p.N142N	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.						negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GAAAAAAATCGTTTCCATTTT	0.393													A	4286000	G	A	4286000	2	1	22	1	0	0	0	0	0	0	0	1	6503	1160	40	1		1	GLIS3	9	4286000	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	3999419	4286000	136927431	47	1359											
PCDH15	65217	broad.mit.edu	37	chr10	55755492	55755492	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatccctttgtatattcGtttactaaagacaggaggat	12	13	7	9	1	0	1	0	0	0	1	2	3	1	3	2	2	1	2	2	2	5	7			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:55755492G>A	uc010qhy.1	-	21	3195	c.2800C>T	c.(2800-2802)Cga>Tga	p.R934*	PCDH15_uc010qhq.2_Nonsense_Mutation_p.R934*|PCDH15_uc010qhr.2_Nonsense_Mutation_p.R929*|PCDH15_uc021pqv.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqw.1_Nonsense_Mutation_p.R941*|PCDH15_uc010qht.2_Nonsense_Mutation_p.R936*|PCDH15_uc021pqx.1_Nonsense_Mutation_p.R929*|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Nonsense_Mutation_p.R929*|PCDH15_uc021pqz.1_Nonsense_Mutation_p.R907*|PCDH15_uc010qhv.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qhw.1_Nonsense_Mutation_p.R892*|PCDH15_uc010qhx.1_Nonsense_Mutation_p.R858*|PCDH15_uc010qhz.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qia.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jju.1_Nonsense_Mutation_p.R929*|PCDH15_uc010qib.1_Nonsense_Mutation_p.R907*|PCDH15_uc001jjw.3_Nonsense_Mutation_p.R929*	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	929	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.G933G(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTGTATATTCGTTTACTAAAG	0.408										HNSCC(58;0.16)			A	55755492	G	A	55755492	4	1	22	1	0	0	0	0	0	1	0	0	11587	1153	40	1	4753	1	PCDH15	10	55755492	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		55755492	79779255	48	1360											
STAMBPL1	57559	broad.mit.edu	37	chr10	90665247	90665247	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgtttccctaagcccAgaagagcgagtccgtgccct	10	8	10	13	2	0	3	0	0	0	3	2	4	2	3	4	0	3	1	4	0	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr10:90665247A>T	uc001kfk.3	+	2	501	c.78A>T	c.(76-78)ccA>ccT	p.P26P	STAMBPL1_uc010qmx.1_Silent_p.P26P|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Silent_p.P26P|STAMBPL1_uc001kfm.3_5'Flank	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	26							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		CCCTAAGCCCAGAAGAGCGAG	0.418													T	90665247	A	T	90665247	2	4	22	1	0	0	0	0	0	0	0	1	15347	175	7	5		5	STAMBPL1	10	90665247	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	34909755	90665247	44869500	49	1361											
OR51S1	119692	broad.mit.edu	37	chr11	4870156	4870156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacagtgtgagcaccagCaagggcgatgcccagcagtg	11	4	16	10	1	0	1	0	1	0	0	0	3	0	2	2	2	4	3	2	2	1	0	rs143553379		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:4870156C>T	uc010qyo.2	-	0	283	c.283G>A	c.(283-285)Gct>Act	p.A95T		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAGCACCAGCAAGGGCGATG	0.537													T	4870156	C	T	4870156	3	4	22	1	0	0	0	0	1	0	0	0	11181	710	25	2	691	2	OR51S1	11	4870156	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		4870156	130136360	50	1362											
C11orf16	56673	broad.mit.edu	37	chr11	8953775	8953775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaggtggagcagcaccGtcccagccaggggccttcag	8	5	13	15	1	1	0	1	0	0	0	3	1	3	1	5	4	3	2	5	4	1	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:8953775G>A	uc001mhb.4	-	1	205	c.81C>T	c.(79-81)gaC>gaT	p.D27D	C11orf16_uc001mhc.4_Silent_p.D27D	NM_020643	NP_065694	Q9NQ32	CK016_HUMAN	Homo sapiens chromosome 11 open reading frame 16 (C11orf16), mRNA.	27										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GAGCAGCACCGTCCCAGCCAG	0.622													A	8953775	G	A	8953775	2	1	22	1	0	0	0	0	0	0	0	1	1642	1136	40	1		1	C11orf16	11	8953775	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	4083619	8953775	126052741	51	1363											
FOLH1	2346	broad.mit.edu	37	chr11	49175930	49175930	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaacaccatccctcctcGaacctgggccacagtgaggt	10	7	8	16	1	1	1	1	1	0	0	4	2	3	1	5	2	2	0	5	2	2	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:49175930G>A	uc001ngy.3	-	15	1999	c.1738C>T	c.(1738-1740)Cga>Tga	p.R580*	FOLH1_uc001ngx.3_Nonsense_Mutation_p.R12*|FOLH1_uc009yly.3_Nonsense_Mutation_p.R565*|FOLH1_uc009ylz.3_Nonsense_Mutation_p.R565*|FOLH1_uc001ngz.3_Nonsense_Mutation_p.R580*|FOLH1_uc009yma.3_Nonsense_Mutation_p.R272*	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	580	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	ATCCCTCCTCGAACCTGGGCC	0.413													A	49175930	G	A	49175930	4	1	22	1	0	0	0	0	0	1	0	0	6028	1066	37	1	530	1	FOLH1	11	49175930	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	40222155	49175930	85830586	52	1364											
OR5D18	219438	broad.mit.edu	37	chr11	55587854	55587854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccacctgactgccatcaCcatcttccatggcaccatcc	8	9	4	20	0	2	1	1	1	1	0	5	1	5	1	7	1	1	1	7	1	0	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:55587854C>A	uc010rin.2	+	0	749	c.749C>A	c.(748-750)aCc>aAc	p.T250N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I249I(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				ACTGCCATCACCATCTTCCAT	0.517													A	55587854	C	A	55587854	3	1	22	1	0	0	0	0	1	0	0	0	11233	507	18	4	751	4	OR5D18	11	55587854	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	6411924	55587854	79418662	53	1365											
MS4A7	58475	broad.mit.edu	37	chr11	60150731	60150731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaagattacctgcagaaCgggctgccaacagaaaccac	16	4	9	12	2	0	3	0	0	0	3	0	4	0	3	3	1	7	2	3	1	6	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:60150731C>T	uc001npe.3	+	1	262	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	39						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438													T	60150731	C	T	60150731	2	4	22	1	0	0	0	0	0	0	0	1	9942	535	19	1		1	MS4A7	11	60150731	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	4562877	60150731	74855785	54	1366											
FAU	2197	broad.mit.edu	37	chr11	64889007	64889007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacttccagggtagtcAgggcctccaccccgcactgg	6	8	11	16	1	1	0	1	0	0	0	3	0	3	0	5	3	2	3	5	3	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:64889007A>G	uc001ocx.3	-	2	304	c.185T>C	c.(184-186)cTg>cCg	p.L62P	MRPL49_uc021qle.1_5'Flank|MRPL49_uc001oda.2_5'Flank|MRPL49_uc021qlf.1_5'Flank	NM_001997	NP_001988	P35544	UBIM_HUMAN	Homo sapiens Finkel-Biskis-Reilly murine sarcoma virus (FBR-MuSV) ubiquitously expressed (FAU), mRNA.	62										NS(3)|kidney(1)|large_intestine(2)	6						CAGGGTAGTCAGGGCCTCCAC	0.612													G	64889007	A	G	64889007	3	3	22	1	0	0	0	0	1	0	0	0	5743	188	7	3	228	3	FAU	11	64889007	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	4738276	64889007	70117509	55	1367											
FOLH1B	219595	broad.mit.edu	37	chr11	89424164	89424164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcactgtggcccaggttCgaggagggatggtgtttgag	7	10	16	8	1	1	1	1	1	0	0	2	4	1	3	2	5	0	2	2	5	0	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:89424164C>T	uc001pda.3	+	10	1340	c.814C>T	c.(814-816)Cga>Tga	p.R272*		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	272					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.V271F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GGCCCAGGTTCGAGGAGGGAT	0.408													T	89424164	C	T	89424164	4	4	22	1	0	0	0	0	0	1	0	0	6029	876	31	1	848	1	FOLH1B	11	89424164	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	24535157	89424164	45582352	56	1368											
MPZL2	10205	broad.mit.edu	37	chr11	118130818	118130818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcggcccatcgctttttccGgtaatgctggaagaggacca	8	11	11	11	3	0	1	0	0	0	1	3	3	1	3	3	4	1	3	3	4	2	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:118130818G>A	uc001psn.3	-	3	918	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	MPZL2_uc001pso.3_Missense_Mutation_p.R179W	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	179					anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CGCTTTTTCCGGTAATGCTGG	0.478													A	118130818	G	A	118130818	3	1	22	1	0	0	0	0	1	0	0	0	9826	1115	39	1	120	1	MPZL2	11	118130818	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	28706654	118130818	16875698	57	1369											
CHEK1	1111	broad.mit.edu	37	chr11	125503112	125503112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttcggtataataatcGtgagcgtttgttgaacaaga	13	14	10	4	3	0	3	0	2	0	1	2	3	0	3	0	1	2	4	0	1	6	7			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr11:125503112G>A	uc009zbo.3	+	5	1376	c.479G>A	c.(478-480)cGt>cAt	p.R160H	CHEK1_uc010sbi.2_Missense_Mutation_p.R160H|CHEK1_uc010sbh.2_Missense_Mutation_p.R176H|CHEK1_uc001qcf.4_Missense_Mutation_p.R160H|CHEK1_uc009zbp.3_Missense_Mutation_p.R160H|CHEK1_uc001qcg.4_Missense_Mutation_p.R160H	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.R160H(2)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TATAATAATCGTGAGCGTTTG	0.363								Other conserved DNA damage response genes					A	125503112	G	A	125503112	3	1	22	1	0	0	0	0	1	0	0	0	3364	1145	40	1	497	1	CHEK1	11	125503112	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	7372294	125503112	9503404	58	1370											
TEAD4	7004	broad.mit.edu	37	chr12	3128315	3128315	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcaaacctatgctgtcCagcctccgctgcctctgcca	7	9	7	18	1	2	0	1	0	1	0	4	0	4	0	6	0	6	3	6	0	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:3128315C>T	uc010sej.2	+	7	854	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	TEAD4_uc010sek.2_Nonsense_Mutation_p.Q145*|TEAD4_uc001qln.3_Nonsense_Mutation_p.Q59*	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	188					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			CTATGCTGTCCAGCCTCCGCT	0.677													T	3128315	C	T	3128315	4	4	22	1	0	0	0	0	0	1	0	0	15841	595	21	2	584	2	TEAD4	12	3128315	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		3128315	130723580	59	1371											
TAS2R30	259293	broad.mit.edu	37	chr12	11286159	11286159	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaggaggtcacagtttGcaaagcttttatgtggacct	13	11	11	6	0	1	1	1	0	0	1	1	3	1	3	1	3	2	3	1	3	4	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:11286159G>A	uc009zhs.1	-	0	685	c.685C>T	c.(685-687)Caa>Taa	p.Q229*	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						GTCACAGTTTGCAAAGCTTTT	0.418													A	11286159	G	A	11286159	4	1	22	1	0	0	0	0	0	1	0	0	15670	1328	46	2	278	2	TAS2R30	12	11286159	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8157844	11286159	122565736	60	1372											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658236	18658236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgaattaggccttgaggaActttttctactcctgtgctg	9	15	9	8	0	1	2	0	2	1	0	2	3	2	3	2	2	3	1	2	2	5	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:18658236A>G	uc001rdt.3	+	22	3157	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N1055S|PIK3C2G_uc010sic.2_Missense_Mutation_p.N833S	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1014	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.N1014S(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GCCTTGAGGAACTTTTTCTAC	0.378													G	18658236	A	G	18658236	3	3	22	1	0	0	0	0	1	0	0	0	11988	43	2	3	3127	3	PIK3C2G	12	18658236	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	7372077	18658236	115193659	61	1373											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccatagaataccatcGccccatcagaagttcagaag	13	9	7	12	1	2	3	2	0	0	3	4	3	3	3	4	0	1	2	4	0	5	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:27841240G>A	uc001ric.2	+	24	2775	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A631T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A794T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A769T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A647T|PPFIBP1_uc001rif.2_Missense_Mutation_p.A307T|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468													A	27841240	G	A	27841240	3	1	22	1	0	0	0	0	1	0	0	0	12390	1087	38	1	2516	1	PPFIBP1	12	27841240	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9183004	27841240	106010655	62	1374											
SCN8A	6334	broad.mit.edu	37	chr12	52200784	52200784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggatctgccaatggtgagCggggatcgcatccactgctt	8	10	13	10	2	1	1	0	1	1	0	3	3	2	3	2	4	3	2	2	4	1	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:52200784C>T	uc001ryw.3	+	26	5692	c.5514C>T	c.(5512-5514)agC>agT	p.S1838S	SCN8A_uc010snl.2_Silent_p.S1797S	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1838					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CAATGGTGAGCGGGGATCGCA	0.562													T	52200784	C	T	52200784	2	4	22	1	0	0	0	0	0	0	0	1	14017	767	27	1		1	SCN8A	12	52200784	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	24359544	52200784	81651111	63	1375											
LUM	4060	broad.mit.edu	37	chr12	91502375	91502375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccacagactctgtcaGgttgttgtggtttatatgca	7	14	12	8	0	2	1	1	0	1	1	2	1	2	1	1	3	1	4	1	3	2	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:91502375G>T	uc001tbm.3	-	1	771	c.382C>A	c.(382-384)Ctg>Atg	p.L128M		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	128					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.L128M(2)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GACTCTGTCAGGTTGTTGTGG	0.418													T	91502375	G	T	91502375	3	4	22	1	0	0	0	0	1	0	0	0	9155	991	35	4	642	4	LUM	12	91502375	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	39301591	91502375	42349520	64	1376											
SDS	10993	broad.mit.edu	37	chr12	113835119	113835119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacagcaggcccccgccGcccactgacagcgcgatggc	8	2	11	20	4	0	1	0	1	0	0	0	2	0	1	5	2	2	1	5	2	0	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr12:113835119G>A	uc001tvg.3	-	5	626	c.504C>T	c.(502-504)ggC>ggT	p.G168G	SDS_uc001tvh.1_Silent_p.G168G	NM_006843	NP_006834	P20132	SDHL_HUMAN	Homo sapiens serine dehydratase (SDS), mRNA.	168					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding	p.G168G(2)		large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GGCCCCCGCCGCCCACTGACA	0.662													A	113835119	G	A	113835119	2	1	22	1	0	0	0	0	0	0	0	1	14068	1074	38	1		1	SDS	12	113835119	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	22332744	113835119	20016776	65	1377											
FAM123A	219287	broad.mit.edu	37	chr13	25745233	25745233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacaggctctcccttgccGttttccgagcgcccgttctt	3	13	8	17	4	2	0	0	0	2	0	5	1	4	0	5	1	2	3	5	1	0	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:25745233G>A	uc001uqb.3	-	0	625	c.525C>T	c.(523-525)aaC>aaT	p.N175N	FAM123A_uc001uqa.3_Silent_p.N175N|FAM123A_uc001uqc.3_Silent_p.N175N	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN	Homo sapiens family with sequence similarity 123A (FAM123A), transcript variant 1, mRNA.	175										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CTCCCTTGCCGTTTTCCGAGC	0.677													A	25745233	G	A	25745233	2	1	22	1	0	0	0	0	0	0	0	1	5467	1136	40	1		1	FAM123A	13	25745233	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08		25745233	89424645	66	1378											
PAN3	255967	broad.mit.edu	37	chr13	28840979	28840979	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaagctgtaaacagcaaAgatgatctgccatattgcct	15	10	7	9	0	1	2	0	1	1	1	1	2	1	2	2	0	6	3	2	0	6	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:28840979A>T	uc001urz.3	+	9	1691	c.1539A>T	c.(1537-1539)aaA>aaT	p.K513N	PAN3_uc010tdo.1_Missense_Mutation_p.K513N|PAN3_uc001ury.3_Missense_Mutation_p.K201N|PAN3_uc001urx.3_Missense_Mutation_p.K313N	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	513	Interaction with PAN2.|Protein kinase.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		TAAACAGCAAAGATGATCTGC	0.373													T	28840979	A	T	28840979	3	4	22	1	0	0	0	0	1	0	0	0	11491	69	3	5	1577	5	PAN3	13	28840979	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	3095746	28840979	86328899	67	1379											
STARD13	90627	broad.mit.edu	37	chr13	33704189	33704189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactggcccggctggctgcGactgtcgctgcctccactgc	3	8	13	17	3	0	0	0	0	0	0	2	1	1	0	3	3	3	4	3	3	0	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr13:33704189G>A	uc001uuw.3	-	4	751	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	STARD13_uc001uuu.3_Missense_Mutation_p.R201C|STARD13_uc001uuv.3_Missense_Mutation_p.R91C|STARD13_uc001uux.3_Missense_Mutation_p.R174C|STARD13_uc010abh.1_Missense_Mutation_p.R194C|STARD13_uc021rhz.1_Missense_Mutation_p.R201C|STARD13_uc021ria.1_Missense_Mutation_p.R91C	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	209					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGCTGGCTGCGACTGTCGCTG	0.627													A	33704189	G	A	33704189	3	1	22	1	0	0	0	0	1	0	0	0	15352	1058	37	1	2756	1	STARD13	13	33704189	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	4863210	33704189	81465689	68	1380											
LRFN5	145581	broad.mit.edu	37	chr14	42356674	42356674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattcctgaagaagagttTttgtgtgagcctcctctcat	9	15	8	9	0	2	4	2	2	1	2	5	4	4	4	3	0	1	1	3	0	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:42356674T>A	uc001wvm.3	+	2	2044	c.846T>A	c.(844-846)ttT>ttA	p.F282L	LRFN5_uc010ana.3_Missense_Mutation_p.F282L	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	282	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AAGAAGAGTTTTTGTGTGAGC	0.502										HNSCC(30;0.082)			A	42356674	T	A	42356674	3	1	22	1	0	0	0	0	1	0	0	0	9011	1838	64	5	848	5	LRFN5	14	42356674	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		42356674	64992866	69	1381											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858710	63858710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttctgtgagtgaaggatCtttctccagaaactgtacta	10	14	10	7	0	3	3	0	2	3	1	4	4	3	4	1	2	2	2	1	2	4	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:63858710C>A	uc001xgd.1	-	8	1473	c.883G>T	c.(883-885)Gat>Tat	p.D295Y	PPP2R5E_uc010tsf.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsg.1_Missense_Mutation_p.D219Y|PPP2R5E_uc010tsh.1_Missense_Mutation_p.D295Y|PPP2R5E_uc001xge.2_Missense_Mutation_p.D295Y|PPP2R5E_uc001xgf.1_Non-coding_Transcript	NM_006246	NP_006237	Q16537	2A5E_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', epsilon isoform (PPP2R5E), mRNA.	295					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		AGTGAAGGATCTTTCTCCAGA	0.294													A	63858710	C	A	63858710	3	1	22	1	0	0	0	0	1	0	0	0	12478	913	32	4	544	4	PPP2R5E	14	63858710	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	21502036	63858710	43490830	70	1382											
PAPLN	89932	broad.mit.edu	37	chr14	73717702	73717702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcacgacctgctaccccGtcgcaggcacctttgacgct	7	7	10	17	5	0	1	0	1	0	0	1	2	0	1	4	2	2	5	4	2	1	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:73717702G>A	uc010ttx.2	+	5	716	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	PAPLN_uc001xnw.4_Missense_Mutation_p.V185I|PAPLN_uc010arl.3_Non-coding_Transcript|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Missense_Mutation_p.V185I	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	185						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTGCTACCCCGTCGCAGGCAC	0.632													A	73717702	G	A	73717702	3	1	22	1	0	0	0	0	1	0	0	0	11504	1145	40	1	575	1	PAPLN	14	73717702	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	9858992	73717702	33631838	71	1383											
CRIP1	1396	broad.mit.edu	37	chr14	105954816	105954816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctgcaggctttgggCggggcggagccgagagccac	5	7	16	13	3	1	1	0	0	1	1	2	3	1	2	3	5	3	2	3	5	0	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr14:105954816C>T	uc001yri.4	+	4	316	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	C14orf80_uc001yrj.3_5'Flank|C14orf80_uc001yrk.3_5'Flank|C14orf80_uc001yrn.3_5'Flank|C14orf80_uc001yro.3_5'Flank|C14orf80_uc001yrm.3_5'Flank	NM_001311	NP_001302	P50238	CRIP1_HUMAN	Homo sapiens cysteine-rich protein 1 (intestinal) (CRIP1), mRNA.	68	Gly-rich.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		AGGCTTTGGGCGGGGCGGAGC	0.632													T	105954816	C	T	105954816	3	4	22	1	0	0	0	0	1	0	0	0	3905	759	27	1	216	1	CRIP1	14	105954816	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	32237114	105954816	1394724	72	1384											
HDC	3067	broad.mit.edu	37	chr15	50549631	50549631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggaggtacctgcaggacGcctccgccctggctgctggg	6	6	16	13	2	0	0	0	0	0	0	1	2	1	2	4	5	3	4	4	5	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr15:50549631G>A	uc001zxz.3	-	3	774	c.432C>T	c.(430-432)ggC>ggT	p.G144G	HDC_uc010uff.2_Silent_p.G144G|HDC_uc010bet.2_Intron|HDC_uc010beu.2_Silent_p.G144G	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	144					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CCTGCAGGACGCCTCCGCCCT	0.562													A	50549631	G	A	50549631	2	1	22	1	0	0	0	0	0	0	0	1	7070	1074	38	1		1	HDC	15	50549631	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08		50549631	51981761	73	1385											
ADCY9	115	broad.mit.edu	37	chr16	4033425	4033425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gactagcaaacgtcttcacgGgggagttctttatgacctgt	9	12	11	9	2	3	1	1	1	2	0	3	3	3	2	1	2	2	2	1	2	3	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:4033425G>A	uc002cvx.3	-	6	2866	c.2327C>T	c.(2326-2328)cCc>cTc	p.P776L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	776					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGTCTTCACGGGGGAGTTCTT	0.562													A	4033425	G	A	4033425	3	1	22	1	0	0	0	0	1	0	0	0	301	1232	43	2	1754	2	ADCY9	16	4033425	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		4033425	86321328	74	1386											
MYH11	4629	broad.mit.edu	37	chr16	15844112	15844112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactgtgcggaacatgccCttcttggtcttggaggcgct	5	11	12	13	2	2	0	0	0	2	0	2	2	2	2	2	4	3	1	2	4	1	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:15844112C>T	uc002ddx.3	-	16	2069	c.1962G>A	c.(1960-1962)aaG>aaA	p.K654K	MYH11_uc002ddv.3_Silent_p.K654K|MYH11_uc002ddw.3_Silent_p.K647K|MYH11_uc002ddy.3_Silent_p.K647K|MYH11_uc010bvg.3_Silent_p.K479K|MYH11_uc002dea.1_Silent_p.K353K	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	647	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GGAACATGCCCTTCTTGGTCT	0.627			T	CBFB	AML								T	15844112	C	T	15844112	2	4	22	1	0	0	0	0	0	0	0	1	10107	680	24	2		2	MYH11	16	15844112	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	11810687	15844112	74510641	75	1387											
CD2BP2	10421	broad.mit.edu	37	chr16	30364599	30364599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccagaccatctccccgcGactctgcttctaaaataaca	12	8	4	17	2	3	1	0	0	3	1	4	2	3	1	5	0	2	1	5	0	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:30364599G>A	uc002dxr.3	-	4	1071	c.818C>T	c.(817-819)tCg>tTg	p.S273L	CD2BP2_uc002dxs.3_Missense_Mutation_p.S273L	NM_001243646	NP_001230575	O95400	CD2B2_HUMAN	Homo sapiens CD2 (cytoplasmic tail) binding protein 2 (CD2BP2), transcript variant 2, mRNA.	273					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding	p.S273S(1)		breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						ATCTCCCCGCGACTCTGCTTC	0.572													A	30364599	G	A	30364599	3	1	22	1	0	0	0	0	1	0	0	0	3025	1059	37	1	215	1	CD2BP2	16	30364599	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	14520487	30364599	59990154	76	1388											
HYDIN	54768	broad.mit.edu	37	chr16	70867931	70867931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctaaggaggaagagggggCgcaggagccccatgcattcc	10	4	16	11	2	0	1	0	0	0	1	1	4	1	4	3	5	2	3	3	5	2	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:70867931C>T	uc002ezr.3	-	78	13686	c.13535G>A	c.(13534-13536)cGc>cAc	p.R4512H	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4513								p.R4464H(1)|p.R4512H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GAAGAGGGGGCGCAGGAGCCC	0.557													T	70867931	C	T	70867931	3	4	22	1	0	0	0	0	1	0	0	0	7525	768	27	1	1859	1	HYDIN	16	70867931	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	40503332	70867931	19486822	77	1389											
HYDIN	54768	broad.mit.edu	37	chr16	71026070	71026070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggatggactccatctGggacactggggcactgtagg	7	9	16	9	0	1	0	0	0	1	0	2	3	2	3	1	6	1	3	1	6	1	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr16:71026070G>T	uc002ezr.3	-	23	3839	c.3688C>A	c.(3688-3690)Cag>Aag	p.Q1230K		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	1230										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GACTCCATCTGGGACACTGGG	0.498													T	71026070	G	T	71026070	3	4	22	1	0	0	0	0	1	0	0	0	7525	1357	47	4	11926	4	HYDIN	16	71026070	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	158139	71026070	19328683	78	1390											
YWHAE	7531	broad.mit.edu	37	chr17	1257637	1257637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatcaaaagctgcttttgCcaacctaaaggtatttcaat	14	13	5	9	0	3	0	3	0	0	0	3	0	3	0	2	1	4	3	2	1	7	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:1257637C>T	uc002fsj.3	-	4	735	c.583G>A	c.(583-585)Gca>Aca	p.A195T	YWHAE_uc002fsk.3_Missense_Mutation_p.A173T|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	195					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding	p.A195T(3)		kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		GCTGCTTTTGCCAACCTAAAG	0.348			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						T	1257637	C	T	1257637	3	4	22	1	0	0	0	0	1	0	0	0	17604	739	26	2	192	2	YWHAE	17	1257637	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		1257637	79937573	79	1391											
SLFN12L	342615	broad.mit.edu	37	chr17	33806205	33806205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaactctgttatctttcaCgtgccaggaatcaggctttt	8	16	7	10	1	4	0	2	0	2	0	4	1	4	1	1	2	2	2	1	2	3	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:33806205C>T	uc002hjn.3	-	2	1825	c.1111G>A	c.(1111-1113)Gtg>Atg	p.V371M	SLFN12L_uc021tuy.1_Missense_Mutation_p.V342M	NM_001195790	NP_001182719	Q6IEE8	SN12L_HUMAN	Homo sapiens schlafen family member 12-like (SLFN12L), mRNA.	374						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TTATCTTTCACGTGCCAGGAA	0.448													T	33806205	C	T	33806205	3	4	22	1	0	0	0	0	1	0	0	0	14829	536	19	1	754	1	SLFN12L	17	33806205	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	32548568	33806205	47389005	80	1392											
KRT13	3860	broad.mit.edu	37	chr17	39659272	39659272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctctgccagcacgcGggtcaggtcaatgcctgggg	6	8	13	14	2	4	0	3	0	1	0	5	0	4	0	3	4	3	1	3	4	1	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:39659272G>A	uc002hwu.1	-	3	877	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	KRT13_uc002hwv.1_Missense_Mutation_p.R272C|KRT13_uc010wfr.2_Missense_Mutation_p.R165C|KRT13_uc010cxo.3_Missense_Mutation_p.R272C|KRT13_uc021txk.1_Missense_Mutation_p.R165C	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	272	Linker 12.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R272S(2)|p.R272R(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				GCCAGCACGCGGGTCAGGTCA	0.602													A	39659272	G	A	39659272	3	1	22	1	0	0	0	0	1	0	0	0	8508	1116	39	1	582	1	KRT13	17	39659272	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	5853067	39659272	41535938	81	1393											
DHX58	79132	broad.mit.edu	37	chr17	40259776	40259776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtagcgcctcaggtgaagCgcatacacccgttgctcctg	7	10	11	13	3	1	1	1	1	0	0	2	1	2	1	3	1	4	4	3	1	3	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:40259776C>T	uc002hyw.3	-	7	1066	c.843G>A	c.(841-843)gcG>gcA	p.A281A	DHX58_uc002hyv.3_Non-coding_Transcript|DHX58_uc010wgf.1_Silent_p.A274A	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	281					innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TCAGGTGAAGCGCATACACCC	0.657													T	40259776	C	T	40259776	2	4	22	1	0	0	0	0	0	0	0	1	4553	755	27	1		1	DHX58	17	40259776	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	600504	40259776	40935434	82	1394											
B4GALNT2	124872	broad.mit.edu	37	chr17	47246247	47246247	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgatccccgcctgcaaCgagtggctcactcaggtggg	6	9	13	13	2	2	1	2	1	0	0	3	2	3	1	3	3	2	3	3	3	1	1	rs112740954	byFrequency	TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:47246247C>T	uc002ion.2	+	9	1539	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*	B4GALNT2_uc010wlt.1_Nonsense_Mutation_p.R408*|B4GALNT2_uc010wlu.1_Nonsense_Mutation_p.R434*	NM_153446	NP_001152860	Q8NHY0	B4GN2_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 2 (B4GALNT2), transcript variant 1, mRNA.	494					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CCGCCTGCAACGAGTGGCTCA	0.592													T	47246247	C	T	47246247	4	4	22	1	0	0	0	0	0	1	0	0	1272	528	19	1	1536	1	B4GALNT2	17	47246247	Nonsense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	6986471	47246247	33948963	83	1395											
FASN	2194	broad.mit.edu	37	chr17	80045208	80045208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggggctaccttgggcCttgtcctgcagtgtgtacag	4	10	17	10	1	0	0	0	0	0	0	1	0	1	0	3	5	3	3	3	5	2	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr17:80045208C>T	uc002kdu.3	-	19	3333	c.3216G>A	c.(3214-3216)aaG>aaA	p.K1072K	FASN_uc002kdw.1_Silent_p.K288K	NM_004104	NP_004095	P49327	FAS_HUMAN	Homo sapiens fatty acid synthase (FASN), mRNA.	1072					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TACCTTGGGCCTTGTCCTGCA	0.672													T	80045208	C	T	80045208	2	4	22	1	0	0	0	0	0	0	0	1	5732	680	24	2		2	FASN	17	80045208	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	32798961	80045208	1150002	84	1396											
ZNF521	25925	broad.mit.edu	37	chr18	22902139	22902139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtcttgtcttcaagtTtacagttggggtctgaaaaa	10	15	9	7	0	5	1	2	1	3	0	5	1	5	1	0	2	1	2	0	2	4	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:22902139T>C	uc002kvk.2	-	2	300	c.53A>G	c.(52-54)aAa>aGa	p.K18R	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Missense_Mutation_p.K18R|ZNF521_uc002kvl.2_5'UTR	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	18					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GTCTTCAAGTTTACAGTTGGG	0.423			T	PAX5	ALL								C	22902139	T	C	22902139	3	2	22	1	0	0	0	0	1	0	0	0	18066	1841	64	3	3906	3	ZNF521	18	22902139	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08		22902139	55175109	85	1397											
SS18	6760	broad.mit.edu	37	chr18	23618584	23618584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatgactgtattggtccCcgtaatagtcttcctggcct	7	13	8	13	1	1	1	0	1	1	0	3	1	3	1	5	2	0	2	5	2	3	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr18:23618584C>T	uc002kvm.3	-	6	893	c.815G>A	c.(814-816)gGg>gAg	p.G272E	SS18_uc002kvn.3_Missense_Mutation_p.G272E|SS18_uc010xbf.2_Missense_Mutation_p.G190E|SS18_uc010xbg.2_Missense_Mutation_p.G220E|SS18_uc010xbh.2_Missense_Mutation_p.G220E|SS18_uc010xbi.2_Missense_Mutation_p.G249E|SS18_uc010dlz.1_Missense_Mutation_p.G220E	NM_001007559	NP_001007560	Q15532	SSXT_HUMAN	Homo sapiens synovial sarcoma translocation, chromosome 18 (SS18), transcript variant 1, mRNA.	272	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding	p.G272W(1)	SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTATTGGTCCCCGTAATAGTC	0.438			T	"SSX1,  SSX2"	synovial sarcoma								T	23618584	C	T	23618584	3	4	22	1	0	0	0	0	1	0	0	0	15271	623	22	2	461	2	SS18	18	23618584	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	716445	23618584	54458664	86	1398											
TJP3	27134	broad.mit.edu	37	chr19	3746600	3746600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccggccctcaaggcactgCgccagtggctggcgcctgcc	4	5	15	17	3	1	0	1	0	0	0	1	0	1	0	5	5	2	2	5	5	1	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:3746600C>T	uc010xhv.2	+	15	2227	c.2227C>T	c.(2227-2229)Cgc>Tgc	p.R743C	TJP3_uc010xhs.2_Missense_Mutation_p.R710C|TJP3_uc010xht.2_Missense_Mutation_p.R674C|TJP3_uc010xhu.2_Missense_Mutation_p.R719C|TJP3_uc010xhw.2_Missense_Mutation_p.R729C	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	724	Guanylate kinase-like.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CAAGGCACTGCGCCAGTGGCT	0.647													T	3746600	C	T	3746600	3	4	22	1	0	0	0	0	1	0	0	0	16031	768	27	1	2289	1	TJP3	19	3746600	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08		3746600	55382383	87	1399											
CPAMD8	27151	broad.mit.edu	37	chr19	17007075	17007075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtcctgctgtaaaggccCcggggccacagaagccaggt	9	5	13	14	2	0	1	0	0	0	1	1	1	1	1	5	4	2	2	5	4	3	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17007075C>T	uc002nfb.3	-	40	5511	c.5479G>A	c.(5479-5481)Ggg>Agg	p.G1827R	CPAMD8_uc010xpj.1_5'UTR|CPAMD8_uc002nfd.1_Missense_Mutation_p.G292R	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1780						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGTAAAGGCCCCGGGGCCACA	0.677													T	17007075	C	T	17007075	3	4	22	1	0	0	0	0	1	0	0	0	3826	623	22	2	327	2	CPAMD8	19	17007075	Missense_Mutation	SNP	C	TCGA-06-0145-01A-01W-0224-08	13260475	17007075	42121908	88	1400											
CPAMD8	27151	broad.mit.edu	37	chr19	17025572	17025572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagctcccgggggtccacGaagataaagctgcgagcctg	9	5	14	13	3	0	1	0	0	0	1	2	3	2	1	4	2	4	2	4	2	3	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:17025572G>A	uc002nfb.3	-	27	3854	c.3822C>T	c.(3820-3822)ttC>ttT	p.F1274F		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1227						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGGGTCCACGAAGATAAAGC	0.617													A	17025572	G	A	17025572	2	1	22	1	0	0	0	0	0	0	0	1	3826	1049	37	1		1	CPAMD8	19	17025572	Silent	SNP	G	TCGA-06-0145-01A-01W-0224-08	18497	17025572	42103411	89	1401											
PSG4	5672	broad.mit.edu	37	chr19	43702421	43702421	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatggagggcttgggaGtctccactgtgcagaaaaca	11	8	15	7	0	1	2	0	0	1	2	2	5	1	4	1	4	2	2	1	4	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:43702421G>C	uc002ovy.3	-	2	539	c.437C>G	c.(436-438)aCt>aGt	p.T146S	PSG4_uc010xwk.1_5'UTR|PSG4_uc002ovz.3_Missense_Mutation_p.T146S|PSG4_uc002owb.3_Intron	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	146					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGCTTGGGAGTCTCCACTGT	0.517													C	43702421	G	C	43702421	3	2	22	1	0	0	0	0	1	0	0	0	12742	1029	36	4	838	4	PSG4	19	43702421	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	26676849	43702421	15426562	90	1402											
ZNF234	10780	broad.mit.edu	37	chr19	44661986	44661986	+	Frame_Shift_Del	DEL	G	G	-																															ggagtgtgggaagcacttcaGtcaggcctcaagtctccaac																										TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:44661986delG	uc002oym.3	+	5	2124	c.1817delG	c.(1816-1818)agtfs	p.S606fs	ZNF234_uc002oyl.4_Frame_Shift_Del_p.S606fs	NM_006630	NP_006621	Q14588	ZN234_HUMAN	Homo sapiens zinc finger protein 234 (ZNF234), transcript variant 1, mRNA.	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCACTTCAGTCAGGCCTCA	0.468													-	44661986	G	-	44661986	7	5	22	1	0	1	0	1	0	0	0	0	17888	1029	36	0	1831	0	ZNF234	19	44661986	Frame_Shift_Del	DEL	G	TCGA-06-0145-01A-01W-0224-08	959565	44661986	14466997	91	1403											
NLRP2	55655	broad.mit.edu	37	chr19	55505643	55505643	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgatttctaggctttgGaactgcgacataactagcga	10	13	11	7	2	1	1	0	1	1	0	1	4	1	2	0	3	4	2	0	3	4	6			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:55505643G>A	uc021vbq.1	+	10	2826	c.2715G>A	c.(2713-2715)tgG>tgA	p.W905*	NLRP2_uc010yfp.2_Nonsense_Mutation_p.W882*|NLRP2_uc002qij.3_Nonsense_Mutation_p.W905*|NLRP2_uc010esp.3_Nonsense_Mutation_p.W883*|NLRP2_uc010esn.3_Nonsense_Mutation_p.W881*|NLRP2_uc010eso.3_Nonsense_Mutation_p.W902*	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	905					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTAGGCTTTGGAACTGCGACA	0.483													A	55505643	G	A	55505643	4	1	22	1	0	0	0	0	0	1	0	0	10553	1183	41	2	2753	2	NLRP2	19	55505643	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	10843657	55505643	3623340	92	1404											
NLRP8	126205	broad.mit.edu	37	chr19	56459556	56459556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtttccctggacgacgCgcttgggatgtgacttcgaa	7	10	14	10	5	0	1	0	1	0	0	2	6	1	3	1	2	1	2	1	2	1	3	rs146471073		TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr19:56459556C>T	uc002qmh.3	+	0	359	c.288C>T	c.(286-288)cgC>cgT	p.R96R	NLRP8_uc010etg.3_Silent_p.R96R	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	96	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTGGACGACGCGCTTGGGATG	0.507													T	56459556	C	T	56459556	2	4	22	1	0	0	0	0	0	0	0	1	10559	755	27	1		1	NLRP8	19	56459556	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	953913	56459556	2669427	93	1405											
SLC32A1	140679	broad.mit.edu	37	chr20	37356997	37356997	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgggcgcctgaagtcctgGgggctgacgctgcgctgcgc	4	6	18	13	5	0	2	0	2	0	0	1	3	1	2	2	3	2	3	2	3	1	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:37356997G>A	uc002xjc.3	+	1	1556	c.1293G>A	c.(1291-1293)tgG>tgA	p.W431*		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	431					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	TGAAGTCCTGGGGGCTGACGC	0.662													A	37356997	G	A	37356997	4	1	22	1	0	0	0	0	0	1	0	0	14659	1241	43	2	1299	2	SLC32A1	20	37356997	Nonsense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08		37356997	25668523	94	1406											
EYA2	2139	broad.mit.edu	37	chr20	45811961	45811961	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaggagagctgcttcgagagGataatgcagagattcggcag	13	7	15	6	2	0	3	0	0	0	3	2	7	0	4	0	3	3	4	0	3	2	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chr20:45811961G>C	uc002xsm.3	+	14	1832	c.1458G>C	c.(1456-1458)agG>agC	p.R486S	EYA2_uc010ghp.3_Missense_Mutation_p.R407S|EYA2_uc002xsq.3_Missense_Mutation_p.R456S	NM_005244	NP_005235	O00167	EYA2_HUMAN	Homo sapiens eyes absent homolog 2 (Drosophila) (EYA2), transcript variant 1, mRNA.	486					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GCTTCGAGAGGATAATGCAGA	0.517													C	45811961	G	C	45811961	3	2	22	1	0	0	0	0	1	0	0	0	5371	1165	41	4	1512	4	EYA2	20	45811961	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8454964	45811961	17213559	95	1407											
GPR143	4935	broad.mit.edu	37	chrX	9711643	9711643	+	Frame_Shift_Del	DEL	C	C	-																															atgattttgaaaaatcggatCttgatcacggctcccatcct																										TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:9711643delC	uc004cst.2	-	5	877	c.729delG	c.(727-729)aagfs	p.K243fs		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	243					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				AAAATCGGATCTTGATCACGG	0.393													-	9711643	C	-	9711643	7	5	22	1	0	1	0	1	0	0	0	0	6705	912	32	0	501	0	GPR143	23	9711643	Frame_Shift_Del	DEL	C	TCGA-06-0145-01A-01W-0224-08		9711643	145558917	96	1408											
SCML2	10389	broad.mit.edu	37	chrX	18260650	18260650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccacagaccaggttgaaGggtccttagagaagccttgt	11	9	11	10	0	0	3	0	1	0	2	2	4	2	3	4	2	1	1	4	2	3	3			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:18260650G>T	uc004cyl.2	-	13	2040	c.1883C>A	c.(1882-1884)cCt>cAt	p.P628H	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Intron|SCML2_uc011miz.1_Intron|SCML2_uc010nfc.2_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	628					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CCAGGTTGAAGGGTCCTTAGA	0.453													T	18260650	G	T	18260650	3	4	22	1	0	0	0	0	1	0	0	0	14003	1000	35	4	227	4	SCML2	23	18260650	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	8549007	18260650	137009910	97	1409											
CNKSR2	22866	broad.mit.edu	37	chrX	21670464	21670464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattatcgataaagtcctagAcaatccagacttgacatcta	15	11	5	10	1	1	3	0	1	1	2	4	4	3	3	2	0	0	0	2	0	6	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:21670464A>G	uc004czx.2	+	21	3410	c.2930A>G	c.(2929-2931)gAc>gGc	p.D977G	CNKSR2_uc011mjo.2_Missense_Mutation_p.D947G	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	977					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAAGTCCTAGACAATCCAGAC	0.378													G	21670464	A	G	21670464	3	3	22	1	0	0	0	0	1	0	0	0	3638	275	10	3	3025	3	CNKSR2	23	21670464	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	3409814	21670464	133600096	98	1410											
DMD	1756	broad.mit.edu	37	chrX	31986588	31986588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccagttgcattcaatGttctgacaacagtttgccgc	8	13	7	13	1	2	1	1	1	1	0	3	1	3	1	3	0	3	4	3	0	2	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:31986588G>A	uc004dda.1	-	44	6726	c.6482C>T	c.(6481-6483)aCa>aTa	p.T2161I	DMD_uc004dcr.1_5'UTR|DMD_uc004dcs.1_5'UTR|DMD_uc004dct.1_5'UTR|DMD_uc004dcu.1_5'UTR|DMD_uc004dcv.1_5'UTR|DMD_uc004dcw.2_Missense_Mutation_p.T817I|DMD_uc004dcx.2_Missense_Mutation_p.T820I|DMD_uc004dcz.2_Missense_Mutation_p.T2038I|DMD_uc004dcy.1_Missense_Mutation_p.T2157I|DMD_uc004ddb.1_Missense_Mutation_p.T2153I|DMD_uc010ngo.1_Missense_Mutation_p.T70I|DMD_uc010ngn.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2161					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGCATTCAATGTTCTGACAAC	0.428													A	31986588	G	A	31986588	3	1	22	1	0	0	0	0	1	0	0	0	4619	1377	48	2	4863	2	DMD	23	31986588	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	10316124	31986588	123283972	99	1411											
PIM2	11040	broad.mit.edu	37	chrX	48771498	48771498	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtttgcatccaggggtcCagcaggatctcttccagtga	7	11	13	10	0	1	1	0	1	1	0	5	2	4	2	3	4	2	3	3	4	0	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:48771498C>A	uc004dls.3	-	5	1148	c.846G>T	c.(844-846)ctG>ctT	p.L282L	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	282	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCCAGGGGTCCAGCAGGATCT	0.617													A	48771498	C	A	48771498	2	1	22	1	0	0	0	0	0	0	0	1	12005	581	21	4		4	PIM2	23	48771498	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	16784910	48771498	106499062	100	1412											
P2RY4	5030	broad.mit.edu	37	chrX	69478786	69478786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgtgcagagcctggcaagGgctgatacaggcgacgagcc	10	5	15	11	2	0	2	0	1	0	1	0	4	0	2	2	3	4	3	2	3	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69478786G>T	uc004dxz.1	-	0	869	c.689C>A	c.(688-690)cCc>cAc	p.P230H		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	230					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GCCTGGCAAGGGCTGATACAG	0.582													T	69478786	G	T	69478786	3	4	22	1	0	0	0	0	1	0	0	0	11429	1232	43	4	412	4	P2RY4	23	69478786	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	20707288	69478786	85791774	101	1413											
KIF4A	24137	broad.mit.edu	37	chrX	69626855	69626855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatggtgatggtgatgAtgatgagggggatgacgagg	10	9	21	1	1	0	7	0	7	0	0	0	10	0	9	0	6	0	0	0	6	0	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:69626855A>G	uc004dyg.3	+	27	3328	c.3185A>G	c.(3184-3186)gAt>gGt	p.D1062G	KIF4A_uc010nkw.3_Missense_Mutation_p.D1062G	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	1062	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						gatggtgatgatgatgagggg	0.433													G	69626855	A	G	69626855	3	3	22	1	0	0	0	0	1	0	0	0	8361	333	12	3	3291	3	KIF4A	23	69626855	Missense_Mutation	SNP	A	TCGA-06-0145-01A-01W-0224-08	148069	69626855	85643705	102	1414											
MED12	9968	broad.mit.edu	37	chrX	70351950	70351950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccctcttggagaacatcGccaaggccacaatcgaggtt	11	8	9	13	2	1	1	0	0	1	1	4	3	2	1	3	3	1	1	3	3	3	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:70351950G>A	uc004dyy.3	+	29	4346	c.4147G>A	c.(4147-4149)Gcc>Acc	p.A1383T	MED12_uc011mpq.1_Missense_Mutation_p.A1383T|MED12_uc004dyz.3_Missense_Mutation_p.A1383T|MED12_uc004dza.3_Missense_Mutation_p.A1230T|MED12_uc010nla.3_Missense_Mutation_p.A9T	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1383					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAGAACATCGCCAAGGCCAC	0.507			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70351950	G	A	70351950	3	1	22	1	0	0	0	0	1	0	0	0	9503	1087	38	1	4265	1	MED12	23	70351950	Missense_Mutation	SNP	G	TCGA-06-0145-01A-01W-0224-08	725095	70351950	84918610	103	1415											
DIAPH2	1730	broad.mit.edu	37	chrX	96171460	96171460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattacaaaggattctaggAgatgaaagaagtcttttact	15	12	10	4	0	2	3	0	1	2	2	2	6	2	5	0	3	2	0	0	3	6	5			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:96171460A>G	uc004efu.4	+	7	1152	c.756A>G	c.(754-756)ggA>ggG	p.G252G	DIAPH2_uc004eft.4_Silent_p.G252G|DIAPH2_uc004efs.2_Silent_p.G259G	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	252	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGATTCTAGGAGATGAAAGAA	0.299													G	96171460	A	G	96171460	2	3	22	1	0	0	0	0	0	0	0	1	4558	291	11	3		3	DIAPH2	23	96171460	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	25819510	96171460	59099100	104	1416											
RGAG1	57529	broad.mit.edu	37	chrX	109694565	109694565	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attacagatgaagacaccgaAgcaatgtccaaagtgctaat	17	8	8	8	1	0	3	0	1	0	2	1	4	1	3	2	0	3	2	2	0	6	2			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:109694565A>G	uc004eor.2	+	2	966	c.720A>G	c.(718-720)gaA>gaG	p.E240E	RGAG1_uc011msr.1_Silent_p.E240E	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	240								p.T239S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAGACACCGAAGCAATGTCCA	0.468													G	109694565	A	G	109694565	2	3	22	1	0	0	0	0	0	0	0	1	13362	69	3	3		3	RGAG1	23	109694565	Silent	SNP	A	TCGA-06-0145-01A-01W-0224-08	13523105	109694565	45575995	105	1417											
ODZ1	10178	broad.mit.edu	37	chrX	123637433	123637433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggattcaaaatgtgaTgcttattcaaagaccagcct	13	13	8	7	0	2	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	4	4			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:123637433T>C	uc010nqy.3	-	18	3486	c.3422A>G	c.(3421-3423)cAt>cGt	p.H1141R	ODZ1_uc011muj.2_Missense_Mutation_p.H1140R|ODZ1_uc004euj.3_Missense_Mutation_p.H1141R	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	1141					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAAAATGTGATGCTTATTCAA	0.358													C	123637433	T	C	123637433	3	2	22	1	0	0	0	0	1	0	0	0	10910	1464	51	3	4832	3	ODZ1	23	123637433	Missense_Mutation	SNP	T	TCGA-06-0145-01A-01W-0224-08	13942868	123637433	31633127	106	1418											
GABRE	2564	broad.mit.edu	37	chrX	151129839	151129839	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcatcaatggtcatccTggaagggagaaaggagcctc	11	7	13	10	1	2	1	2	0	0	1	5	4	4	3	3	5	1	1	3	5	3	0			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:151129839T>A	uc004ffi.3	-	5	618	c.564_splice	c.e5-1	p.R188_splice	GABRE_uc011myd.2_Splice_Site|GABRE_uc011mye.1_Intron|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	188					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					ATGGTCATCCTGGAAGGGAGA	0.493													A	151129839	T	A	151129839	5	1	22	1	0	0	0	0	0	0	1	0	6222	1594	55	5	978	5	GABRE	23	151129839	Splice_Site	SNP	T	TCGA-06-0145-01A-01W-0224-08	27492406	151129839	4140721	107	1419											
ATP2B3	492	broad.mit.edu	37	chrX	152801876	152801876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctacggggatgtcagCgggctctgccggaggctgaa	7	6	18	10	3	2	1	1	1	1	0	2	4	2	3	2	6	3	2	2	6	2	1			TCGA-06-0145-01A-01W-0224-08	TCGA-06-0145-10A-01W-0224-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f904068-2967-4b38-8813-3ad0a99e4af8	bd8a3db7-c259-4894-8104-9c0aab126a49	g.chrX:152801876C>T	uc004fht.1	+	0	297	c.171C>T	c.(169-171)agC>agT	p.S57S	ATP2B3_uc004fhs.1_Silent_p.S57S	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	57					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGATGTCAGCGGGCTCTGCC	0.667													T	152801876	C	T	152801876	2	4	22	1	0	0	0	0	0	0	0	1	1146	767	27	1		1	ATP2B3	23	152801876	Silent	SNP	C	TCGA-06-0145-01A-01W-0224-08	1672037	152801876	2468684	108	1420											
PI4KB	5298	broad.mit.edu	37	chr1	151265387	151265387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttggtggtgatagaccGcatactgccatccaccatct	9	11	10	11	1	1	2	0	1	1	1	2	3	2	2	4	2	2	2	4	2	2	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:151265387G>A	uc001exr.3	-	12	3067	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	PI4KB_uc001exs.3_Missense_Mutation_p.R783W|PI4KB_uc001exu.3_Missense_Mutation_p.R783W|PI4KB_uc010pcw.2_Missense_Mutation_p.R466W|PI4KB_uc001ext.3_Missense_Mutation_p.R798W	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	798					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GTGATAGACCGCATACTGCCA	0.577													A	151265387	G	A	151265387	3	1	23	1	0	0	0	0	1	0	0	0	11951	1086	38	1	62	1	PI4KB	1	151265387	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		151265387	97985234	1	1421											
DUSP27	92235	broad.mit.edu	37	chr1	167097496	167097496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagccctacttcttccGccggaccccagagtcctcag	7	7	8	19	2	2	2	1	0	1	2	4	3	4	3	7	1	2	0	7	1	1	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:167097496G>A	uc001geb.1	+	4	3144	c.3128G>A	c.(3127-3129)cGc>cAc	p.R1043H		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1043					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.R1043S(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACTTCTTCCGCCGGACCCCA	0.587													A	167097496	G	A	167097496	3	1	23	1	0	0	0	0	1	0	0	0	4863	1087	38	1	3146	1	DUSP27	1	167097496	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	15832109	167097496	82153125	2	1422											
TNN	63923	broad.mit.edu	37	chr1	175097757	175097757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgtttcccacacccttcgGactgcagtcaggttcagcag	7	9	9	16	2	2	0	2	0	0	0	4	1	3	1	3	2	2	4	3	2	0	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:175097757G>A	uc001gkl.1	+	14	3318	c.3205G>A	c.(3205-3207)Gac>Aac	p.D1069N		NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	1069	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		ACACCCTTCGGACTGCAGTCA	0.547													A	175097757	G	A	175097757	3	1	23	1	0	0	0	0	1	0	0	0	16423	1174	41	2	3259	2	TNN	1	175097757	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	8000261	175097757	74152864	3	1423											
CFHR5	81494	broad.mit.edu	37	chr1	196964976	196964976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttataataaacgggcCtaagaaaatacaatgtgtgg	17	12	8	4	1	0	1	0	0	0	1	0	1	0	1	1	2	2	0	1	2	10	7			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:196964976C>G	uc001gts.4	+	4	865	c.737C>G	c.(736-738)cCt>cGt	p.P246R		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	246	Sushi 4.				complement activation, alternative pathway	extracellular region		p.G245R(1)		NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						ATAAACGGGCCTAAGAAAATA	0.333													G	196964976	C	G	196964976	3	3	23	1	0	0	0	0	1	0	0	0	3318	681	24	4	755	4	CFHR5	1	196964976	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	21867219	196964976	52285645	4	1424											
DDX59	83479	broad.mit.edu	37	chr1	200635187	200635187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcatctgcatttgaatggGagttggcacctcatagcctg	10	12	10	9	0	3	1	2	1	1	0	3	2	3	2	2	2	2	3	2	2	3	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr1:200635187G>A	uc009wzk.3	-	1	925	c.682C>T	c.(682-684)Ccc>Tcc	p.P228S	DDX59_uc010ppl.1_Missense_Mutation_p.P228S	NM_001031725	NP_001026895	Q5T1V6	DDX59_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 59 (DDX59), mRNA.	228						intracellular	ATP binding|ATP-dependent helicase activity|metal ion binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(1)|lung(9)|ovary(3)	21						ATTTGAATGGGAGTTGGCACC	0.458													A	200635187	G	A	200635187	3	1	23	1	0	0	0	0	1	0	0	0	4410	1174	41	2	1205	2	DDX59	1	200635187	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	3670211	200635187	48615434	5	1425											
ZRANB3	84083	broad.mit.edu	37	chr2	135965224	135965224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaccgtgaatcccaaGagttcgctttacatgcttgc	12	10	8	11	2	0	2	0	1	0	1	2	2	1	2	2	0	5	4	2	0	5	4			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:135965224G>T	uc002tum.3	-	18	2906	c.2789C>A	c.(2788-2790)tCt>tAt	p.S930Y	ZRANB3_uc002tuk.3_Missense_Mutation_p.S473Y|ZRANB3_uc002tul.3_Missense_Mutation_p.S928Y	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	930						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		TGAATCCCAAGAGTTCGCTTT	0.428													T	135965224	G	T	135965224	3	4	23	1	0	0	0	0	1	0	0	0	18323	942	33	4	462	4	ZRANB3	2	135965224	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		135965224	107234149	6	1426											
PRKRA	8575	broad.mit.edu	37	chr2	179296970	179296970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgatattgtccattggCgctcagttcatctgtaatga	10	15	8	8	1	3	2	2	2	1	0	4	2	4	2	1	1	0	3	1	1	2	6	rs148050153		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr2:179296970C>T	uc002umf.3	-	7	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	MIR548N_uc021vsx.1_Intron|PRKRA_uc002umc.3_Missense_Mutation_p.A98T|PRKRA_uc002umd.3_Missense_Mutation_p.A241T|PRKRA_uc002ume.3_Missense_Mutation_p.A255T|PRKRA_uc002umg.3_Missense_Mutation_p.A153T|BX538254_uc002umb.1_Intron|PRKRA_uc002umh.1_Non-coding_Transcript	NM_003690	NP_001132990	O75569	PRKRA_HUMAN	Homo sapiens protein kinase, interferon-inducible double stranded RNA dependent activator (PRKRA), transcript variant 1, mRNA.	266	DRBM 3.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCCATTGGCGCTCAGTTCA	0.418													T	179296970	C	T	179296970	3	4	23	1	0	0	0	0	1	0	0	0	12610	768	27	1	149	1	PRKRA	2	179296970	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	43331746	179296970	63902403	7	1427											
RAD54L2	23132	broad.mit.edu	37	chr3	51690054	51690054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcagtccacccccatcCccatgatgccccggcatgtc	6	8	8	19	1	0	1	0	1	0	0	3	1	2	1	7	1	2	2	7	1	0	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:51690054C>T	uc011bdt.2	+	18	3219	c.3094C>T	c.(3094-3096)Ccc>Tcc	p.P1032S	RAD54L2_uc003dbh.3_Missense_Mutation_p.P621S|RAD54L2_uc011bdu.2_Missense_Mutation_p.P726S|RAD54L2_uc003dbj.3_Missense_Mutation_p.P358S	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1032						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		CACCCCCATCCCCATGATGCC	0.522													T	51690054	C	T	51690054	3	4	23	1	0	0	0	0	1	0	0	0	13082	623	22	2	3164	2	RAD54L2	3	51690054	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08		51690054	146332376	8	1428											
RAP2B	5912	broad.mit.edu	37	chr3	152880771	152880771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggacatcaagcccatgCgggaccagatcatccgcgtg	10	6	11	14	3	2	1	2	0	0	1	4	3	4	3	4	2	2	0	4	2	1	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:152880771C>T	uc003ezr.3	+	0	743	c.289C>T	c.(289-291)Cgg>Tgg	p.R97W		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	97					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CAAGCCCATGCGGGACCAGAT	0.617													T	152880771	C	T	152880771	3	4	23	1	0	0	0	0	1	0	0	0	13129	759	27	1	291	1	RAP2B	3	152880771	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	101190717	152880771	45141659	9	1429											
NLGN1	22871	broad.mit.edu	37	chr3	173998531	173998531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaactgacatcactttcaGacctacgagaaaaaattctg	16	10	5	10	1	4	3	3	1	1	2	4	4	4	3	1	0	2	0	1	0	5	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr3:173998531G>C	uc021xhm.1	+	6	2350	c.2030G>C	c.(2029-2031)aGa>aCa	p.R677T	NLGN1_uc003fio.1_Missense_Mutation_p.R637T|NLGN1_uc003fip.1_Missense_Mutation_p.R637T	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	654					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			ATCACTTTCAGACCTACGAGA	0.433													C	173998531	G	C	173998531	3	2	23	1	0	0	0	0	1	0	0	0	10537	942	33	4	1928	4	NLGN1	3	173998531	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	21117760	173998531	24023899	10	1430											
ALB	213	broad.mit.edu	37	chr4	74274453	74274453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaacccaaacctcccccGattggtgagaccagaggttg	11	7	10	13	1	0	3	0	2	0	2	1	5	1	3	5	2	2	1	5	2	2	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr4:74274453G>A	uc003hgs.4	+	3	486	c.413G>A	c.(412-414)cGa>cAa	p.R138Q	ALB_uc011cbe.2_Intron|ALB_uc003hgw.4_Intron|ALB_uc011cbf.2_Missense_Mutation_p.R28Q	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	138	Albumin 1.		R -> G (in Yanomama-2).		bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AACCTCCCCCGATTGGTGAGA	0.398													A	74274453	G	A	74274453	3	1	23	1	0	0	0	0	1	0	0	0	486	1058	37	1	427	1	ALB	4	74274453	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		74274453	116879823	11	1431											
PCDHB5	26167	broad.mit.edu	37	chr5	140516934	140516934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcggccaagcacaggctgGtggtgctggtcaaggacaat	10	6	15	10	2	1	0	1	0	0	0	1	1	1	1	1	6	2	3	1	6	3	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr5:140516934G>A	uc003liq.3	+	0	2135	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	640	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCACAGGCTGGTGGTGCTGGT	0.706													A	140516934	G	A	140516934	3	1	23	1	0	0	0	0	1	0	0	0	11621	1261	44	2	1920	2	PCDHB5	5	140516934	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		140516934	40398326	12	1432											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	23	1	0	0	0	0	1	0	0	0	1505	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-0151-01A-01D-1491-08		140453136	18685527	13	1433											
NFIB	4781	broad.mit.edu	37	chr9	14150145	14150145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccttctttcagtaccTgcttggtggagaagacagag	9	10	12	10	0	2	3	1	0	1	3	2	4	2	3	2	2	3	3	2	2	2	4			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:14150145T>C	uc022bdo.1	-	5	1341	c.806_splice	c.e5+1	p.S269_splice	NFIB_uc003zld.3_Splice_Site_p.S17_splice|NFIB_uc003zlf.3_Splice_Site_p.S269_splice|NFIB_uc003zle.3_Splice_Site_p.S269_splice|NFIB_uc022bdp.1_Splice_Site_p.S295_splice|NFIB_uc011lmo.2_Splice_Site_p.S269_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	269					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		TTTCAGTACCTGCTTGGTGGA	0.458			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								C	14150145	T	C	14150145	3	2	23	1	0	0	0	0	1	0	0	0	10447	1594	55	3	477	3	NFIB	9	14150145	Missense_Mutation	SNP	T	TCGA-06-0151-01A-01D-1491-08		14150145	127063286	14	1434											
TNC	3371	broad.mit.edu	37	chr9	117844148	117844148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggagctagaccagtttgCcggtaagaggtctctggcct	8	9	13	11	1	1	2	0	0	1	2	2	3	1	3	4	4	2	3	4	4	2	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr9:117844148C>T	uc004bjj.4	-	5	2719	c.2307G>A	c.(2305-2307)cgG>cgA	p.R769R	TNC_uc010mvf.3_Silent_p.R769R|TNC_uc022bmj.1_Silent_p.R769R	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	769	Fibronectin type-III 2.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCAGTTTGCCGGTAAGAGG	0.522													T	117844148	C	T	117844148	2	4	23	1	0	0	0	0	0	0	0	1	16370	726	26	2		2	TNC	9	117844148	Silent	SNP	C	TCGA-06-0151-01A-01D-1491-08	103694003	117844148	23369283	15	1435											
PRKCQ	5588	broad.mit.edu	37	chr10	6470257	6470257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttgatcagtgctctgtcgGcaaatgacagccggggcttc	7	11	13	10	2	2	2	1	2	1	0	4	2	2	2	1	3	2	4	1	3	1	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr10:6470257G>A	uc001iji.1	-	16	2216	c.2132C>T	c.(2131-2133)gCc>gTc	p.A711V	PRKCQ_uc001ijj.2_Missense_Mutation_p.A678V|PRKCQ_uc009xim.2_Missense_Mutation_p.A615V|PRKCQ_uc009xin.2_Missense_Mutation_p.A642V|PRKCQ_uc010qax.2_Missense_Mutation_p.A553V	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	678					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TGCTCTGTCGGCAAATGACAG	0.458													A	6470257	G	A	6470257	3	1	23	1	0	0	0	0	1	0	0	0	12601	1203	42	2	91	2	PRKCQ	10	6470257	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		6470257	129064490	16	1436											
SF1	7536	broad.mit.edu	37	chr11	64537812	64537812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcttccagctttttgCgggtgcggaactctcgggtg	3	13	13	12	3	2	0	0	0	2	0	5	1	4	1	2	3	4	2	2	3	1	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr11:64537812C>T	uc001obb.2	-	3	757	c.305G>A	c.(304-306)cGc>cAc	p.R102H	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Missense_Mutation_p.R76H|SF1_uc001oaz.2_Missense_Mutation_p.R227H|SF1_uc001oba.2_Missense_Mutation_p.R102H|SF1_uc001obd.2_Missense_Mutation_p.R102H|SF1_uc001obc.2_Missense_Mutation_p.R102H|SF1_uc001obe.2_5'UTR|SF1_uc010rno.2_5'UTR	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	102					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding	p.R102H(4)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CAGCTTTTTGCGGGTGCGGAA	0.547													T	64537812	C	T	64537812	3	4	23	1	0	0	0	0	1	0	0	0	14238	768	27	1	1792	1	SF1	11	64537812	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08		64537812	70468704	17	1437											
KRT7	3855	broad.mit.edu	37	chr12	52639222	52639222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttggaggccgccattgcCgaggctgaggagcgtgggga	8	6	19	8	3	0	1	0	1	0	0	0	5	0	4	3	6	2	2	3	6	1	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:52639222C>T	uc001saa.1	+	6	1138	c.1011C>T	c.(1009-1011)gcC>gcT	p.A337A		NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	337	Coil 2.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CCGCCATTGCCGAGGCTGAGG	0.662													T	52639222	C	T	52639222	2	4	23	1	0	0	0	0	0	0	0	1	8541	639	23	1		1	KRT7	12	52639222	Silent	SNP	C	TCGA-06-0151-01A-01D-1491-08		52639222	81212673	18	1438											
HOXC11	3227	broad.mit.edu	37	chr12	54367422	54367422	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accccagcgccccgcacgcaAcccccgccggcttctactcc	6	4	7	24	5	1	0	0	0	1	0	2	0	2	0	8	1	3	3	8	1	2	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:54367422A>C	uc001sem.3	+	0	513	c.397A>C	c.(397-399)Acc>Ccc	p.T133P		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	133					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						CCCGCACGCAACCCCCGCCGG	0.642			T	NUP98	AML								C	54367422	A	C	54367422	3	2	23	1	0	0	0	0	1	0	0	0	7365	43	2	5	399	5	HOXC11	12	54367422	Missense_Mutation	SNP	A	TCGA-06-0151-01A-01D-1491-08	1728200	54367422	79484473	19	1439											
MYO1A	4640	broad.mit.edu	37	chr12	57431824	57431824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctgaagagaactgacctCgctgctgatgctcattgggc	8	10	13	10	1	2	4	1	3	1	1	3	5	2	4	1	2	3	3	1	2	2	1			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:57431824C>T	uc001smw.4	-	17	2030	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	MYO1A_uc010sqz.2_Missense_Mutation_p.R435Q|MYO1A_uc009zpd.3_Missense_Mutation_p.R597Q	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	597	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GAACTGACCTCGCTGCTGATG	0.592													T	57431824	C	T	57431824	3	4	23	1	0	0	0	0	1	0	0	0	10144	884	31	1	1385	1	MYO1A	12	57431824	Missense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	3064402	57431824	76420071	20	1440											
SELPLG	6404	broad.mit.edu	37	chr12	109017957	109017957	+	Frame_Shift_Del	DEL	C	C	-																															taggtactcatattcggtggCctgtctccggtcccgggcaa																										TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr12:109017957delC	uc010sxe.2	-	1	352	c.175delG	c.(175-177)gccfs	p.A59fs	SELPLG_uc001tni.3_Frame_Shift_Del_p.A43fs|SELPLG_uc021rdm.1_Frame_Shift_Del_p.A43fs|SELPLG_uc001tnh.3_Frame_Shift_Del_p.A43fs	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	43					blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TATTCGGTGGCCTGTCTCCGG	0.582													-	109017957	C	-	109017957	7	5	23	1	0	1	0	1	0	0	0	0	14113	739	26	0	1089	0	SELPLG	12	109017957	Frame_Shift_Del	DEL	C	TCGA-06-0151-01A-01D-1491-08	51586133	109017957	24833938	21	1441											
FOXG1	2290	broad.mit.edu	37	chr14	29236962	29236988	+	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	GGGCGAGGGCGGCAAGGACGGGGAGGG	-																															ggggaggagaagaagggggcGggcgagggcggcaaggacgg																								rs148157138	byFrequency	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr14:29236962_29236988delGGGCGAGGGCGGCAAGGACGGGGAGGG	uc001wqe.3	+	0	676_702	c.477_503delGGGCGAGGGCGGCAAGGACGGGGAGGG	c.(475-504)gcgggcgagggcggcaaggacggggagggg>gcg	p.GEGGKDGEG160del		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	160	Gly-rich.				axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G166G(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		agaagggggcgggcgagggcggcaaggacggggaggggggcaaggag	0.727													-	29236988	GGGCGAGGGCGGCAAGGACGGGGAGGG	-	29236962	7	5	23	1	0	1	0	1	0	0	0	0	6058	1103	39	0	479	0	FOXG1	14	29236962	In_Frame_Del	DEL	GGGCGAGGGCGGCAAGGACGGGGAGGG	TCGA-06-0151-01A-01D-1491-08		29236962	78112578	22	1442											
KRT222	125113	broad.mit.edu	37	chr17	38812794	38812794	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctaaatgaagatcaaatcGaagagaaacagactttttcc	17	10	7	7	1	1	4	1	1	0	3	3	6	2	4	1	0	2	1	1	0	6	3			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr17:38812794G>A	uc002hvc.2	-	5	813	c.748C>T	c.(748-750)Cga>Tga	p.R250*	KRT222_uc002hvb.2_Nonsense_Mutation_p.R210*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	250						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGATCAAATCGAAGAGAAACA	0.368													A	38812794	G	A	38812794	4	1	23	1	0	0	0	0	0	1	0	0	8517	1066	37	1	143	1	KRT222	17	38812794	Nonsense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		38812794	42382416	23	1443											
ACPT	93650	broad.mit.edu	37	chr19	51295399	51295399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaggccaccgaggccgccGagtaccaggaggccctggag	8	2	18	13	3	0	0	0	0	0	0	0	5	0	3	6	6	1	1	6	6	1	1			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:51295399G>A	uc002pta.1	+	4	520	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	174						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CGAGGCCGCCGAGTACCAGGA	0.706													A	51295399	G	A	51295399	3	1	23	1	0	0	0	0	1	0	0	0	168	1059	37	1	538	1	ACPT	19	51295399	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		51295399	7833584	24	1444											
ZNF470	388566	broad.mit.edu	37	chr19	57089037	57089037	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatcacataggacttattCagcataagagaactcatact	15	11	6	9	0	3	2	3	1	0	1	3	4	3	3	0	1	3	1	0	1	5	5			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr19:57089037C>T	uc002qnl.4	+	5	1916	c.1240C>T	c.(1240-1242)Cag>Tag	p.Q414*	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I413F(2)		endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AGGACTTATTCAGCATAAGAG	0.413													T	57089037	C	T	57089037	4	4	23	1	0	0	0	0	0	1	0	0	18030	827	29	2	1254	2	ZNF470	19	57089037	Nonsense_Mutation	SNP	C	TCGA-06-0151-01A-01D-1491-08	5793638	57089037	2039946	25	1445											
UMODL1	89766	broad.mit.edu	37	chr21	43519223	43519223	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctggaggctggagtgctGtacagggtgaagaccagcta	9	7	18	7	0	0	2	0	1	0	1	0	4	0	4	1	5	3	5	1	5	3	2			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:43519223G>A	uc002zag.1	+	6	1119	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	UMODL1_uc002zad.1_Silent_p.L301L|UMODL1_uc002zae.1_Silent_p.L301L|UMODL1_uc002zaf.1_Silent_p.L373L|UMODL1_uc010gow.1_Silent_p.L165L|UMODL1_uc002zai.1_Silent_p.L24L|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Silent_p.L24L|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Silent_p.L118L	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	373	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGTGCTGTACAGGGTGA	0.612													A	43519223	G	A	43519223	2	1	23	1	0	0	0	0	0	0	0	1	17082	1364	48	2		2	UMODL1	21	43519223	Silent	SNP	G	TCGA-06-0151-01A-01D-1491-08		43519223	4610672	26	1446											
ITGB2	3689	broad.mit.edu	37	chr21	46330269	46330269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgaccttgaacttcGtgcactcctgagagaggact	9	10	11	11	1	0	4	0	3	0	1	2	6	1	5	2	1	4	3	2	1	1	2	rs148038936	by1000genomes	TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr21:46330269G>A	uc002zgd.2	-	1	121	c.77C>T	c.(76-78)aCg>aTg	p.T26M	ITGB2_uc002zgf.3_Missense_Mutation_p.T26M|ITGB2_uc011afl.1_5'UTR|ITGB2_uc010gpw.2_Missense_Mutation_p.T26M|ITGB2_uc002zgg.2_Missense_Mutation_p.T26M	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	26					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.T26T(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CTTGAACTTCGTGCACTCCTG	0.657													A	46330269	G	A	46330269	3	1	23	1	0	0	0	0	1	0	0	0	7952	1145	40	1	2288	1	ITGB2	21	46330269	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08	2811046	46330269	1799626	27	1447											
SLC35E4	339665	broad.mit.edu	37	chr22	31042730	31042730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctggcgactctcgcctctgGgcctgcatcctgctcagctg	3	10	12	16	2	3	0	1	0	2	0	5	1	4	0	3	2	3	4	3	2	0	0			TCGA-06-0151-01A-01D-1491-08	TCGA-06-0151-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fea9ebc-8c1b-4078-af87-79c7f5b5470b	5d8879d4-295c-4a2a-a3fb-d402e2f1f8f5	g.chr22:31042730G>T	uc003ais.1	+	1	1410	c.765G>T	c.(763-765)tgG>tgT	p.W255C	SLC35E4_uc003ait.3_Intron	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	255	Leu-rich.					integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCGCCTCTGGGCCTGCATCC	0.677													T	31042730	G	T	31042730	3	4	23	1	0	0	0	0	1	0	0	0	14681	1241	43	4	771	4	SLC35E4	22	31042730	Missense_Mutation	SNP	G	TCGA-06-0151-01A-01D-1491-08		31042730	20261836	28	1448											
DNAJC16	23341	broad.mit.edu	37	chr1	15888817	15888817	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgtttcaagggaaatcAgcggtaagccacagagtctc	12	7	13	9	2	3	1	2	0	1	1	4	3	3	2	1	3	2	2	1	3	3	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:15888817A>C	uc001aws.3	+	8	1455	c.1335A>C	c.(1333-1335)tcA>tcC	p.S445S	DNAJC16_uc001awr.1_Silent_p.S445S|DNAJC16_uc001awt.3_Silent_p.S133S|DNAJC16_uc001awu.3_Non-coding_Transcript	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	445					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AAGGGAAATCAGCGGTAAGCC	0.473													C	15888817	A	C	15888817	2	2	24	1	0	0	0	0	0	0	0	1	4674	175	7	5		5	DNAJC16	1	15888817	Silent	SNP	A	TCGA-06-0152-01A-02W-0323-08		15888817	233361804	1	1449											
DOCK7	85440	broad.mit.edu	37	chr1	62993826	62993826	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggattgtttttaccgttGacgtgaggaggaaactgcca	10	11	14	6	2	0	2	0	2	0	0	0	6	0	6	2	4	3	2	2	4	2	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:62993826G>C	uc001daq.3	-	30	3966	c.3932C>G	c.(3931-3933)tCa>tGa	p.S1311*	DOCK7_uc001dan.3_Nonsense_Mutation_p.S1172*|DOCK7_uc001dao.3_Nonsense_Mutation_p.S1172*|DOCK7_uc001dap.3_Nonsense_Mutation_p.S1280*|DOCK7_uc001dam.3_Nonsense_Mutation_p.S491*|DOCK7_uc010oov.1_Intron	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1311					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TTTTACCGTTGACGTGAGGAG	0.423													C	62993826	G	C	62993826	4	2	24	1	0	0	0	0	0	1	0	0	4731	1294	45	4	2570	4	DOCK7	1	62993826	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	47105009	62993826	186256795	2	1450											
OR10J1	26476	broad.mit.edu	37	chr1	159410403	159410403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacatgaccagctgatctcGgtgacctacactgtcatcac	11	9	8	13	1	3	3	2	3	1	0	4	4	3	3	2	1	3	1	2	1	2	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:159410403G>A	uc010piv.2	+	0	892	c.855G>A	c.(853-855)tcG>tcA	p.S285S	BC038194_uc001fts.4_Intron	NM_012351	NP_036483	P30954	O10J1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 1 (OR10J1), mRNA.	285					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					AGCTGATCTCGGTGACCTACA	0.517													A	159410403	G	A	159410403	2	1	24	1	0	0	0	0	0	0	0	1	10986	1103	39	1		1	OR10J1	1	159410403	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	96416577	159410403	89840218	3	1451											
ATP1A4	480	broad.mit.edu	37	chr1	160144388	160144388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccgttgtggccgtgaCaggtgacggggtgaacgact	7	7	19	8	4	0	3	0	3	0	0	0	5	0	4	2	5	2	1	2	5	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:160144388C>A	uc001fve.4	+	14	2641	c.2162C>A	c.(2161-2163)aCa>aAa	p.T721K	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_Missense_Mutation_p.T224K|ATP1A4_uc001fvh.3_5'Flank	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	721					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.T721I(2)|p.V720L(1)|p.V720M(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTGGCCGTGACAGGTGACGGG	0.542													A	160144388	C	A	160144388	3	1	24	1	0	0	0	0	1	0	0	0	1136	478	17	4	2220	4	ATP1A4	1	160144388	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	733985	160144388	89106233	4	1452											
HMCN1	83872	broad.mit.edu	37	chr1	186017944	186017945	+	Frame_Shift_Ins	INS	-	-	A																															aaatgttgctggaaaaactgINSaaaaaaactacaatgtcaac																										TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:186017944_186017945insA	uc001grq.1	+	41	6779_6780	c.6550_6551insA	c.(6550-6552)gaafs	p.E2184fs		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2184	Ig-like C2-type 19.			E -> EK (in Ref. 1).	response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGAAAAACTGAAAAAAACTAC	0.361													A	186017945	-	A	186017944	7	5	24	1	0	1	1	0	0	0	0	0	7275	1291	45	0	6716	0	HMCN1	1	186017944	Frame_Shift_Ins	INS	-	TCGA-06-0152-01A-02W-0323-08	25873556	186017944	63232677	5	1453											
AIDA	64853	broad.mit.edu	37	chr1	222860999	222860999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatgtaagaatattctttagGactagaataagaagataaag	19	12	8	2	0	1	4	0	0	1	4	1	5	1	5	0	1	0	1	0	1	11	9			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr1:222860999G>C	uc001hnn.3	-	5	495	c.290_splice	c.e5-1	p.I97_splice	AIDA_uc001hno.3_Splice_Site|AIDA_uc010pus.2_Splice_Site_p.I73_splice	NM_022831	NP_073742	Q96BJ3	AIDA_HUMAN	Homo sapiens axin interactor, dorsalization associated (AIDA), mRNA.	97					dorsal/ventral pattern formation|negative regulation of JNK cascade|negative regulation of JUN kinase activity|regulation of protein homodimerization activity					kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						TATTCTTTAGGACTAGAATAA	0.224													C	222860999	G	C	222860999	3	2	24	1	0	0	0	0	1	0	0	0	423	1188	41	4	653	4	AIDA	1	222860999	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	36843055	222860999	26389622	6	1454											
FEZ2	9637	broad.mit.edu	37	chr2	36810520	36810520	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccgtgaagaggggttcAtcattaacacaggagacgat	12	9	12	8	2	3	3	2	1	1	2	3	5	3	3	1	3	2	1	1	3	2	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:36810520A>C	uc002rpg.2	-	2	515	c.468T>G	c.(466-468)gaT>gaG	p.D156E	FEZ2_uc002rpf.2_5'UTR|FEZ2_uc002rph.2_Missense_Mutation_p.D156E|FEZ2_uc002rpj.2_Missense_Mutation_p.D156E	NM_001042548	NP_001036013	Q9UHY8	FEZ2_HUMAN	Homo sapiens fasciculation and elongation protein zeta 2 (zygin II) (FEZ2), transcript variant 2, mRNA.	156					axon guidance|signal transduction		protein binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	7		all_hematologic(82;0.21)				AGAGGGGTTCATCATTAACAC	0.438													C	36810520	A	C	36810520	3	2	24	1	0	0	0	0	1	0	0	0	5873	214	8	5	702	5	FEZ2	2	36810520	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08		36810520	206388853	7	1455											
CD8A	925	broad.mit.edu	37	chr2	87013056	87013056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggttagacgtatctcGccgaaaggctgggcttgtct	8	10	13	10	3	2	1	0	0	2	1	3	2	2	1	1	3	0	4	1	3	3	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:87013056G>A	uc002srt.3	-	5	1584	c.695C>T	c.(694-696)gCg>gTg	p.A232V	RMND5A_uc002srs.4_Intron|CD8A_uc002srv.3_Missense_Mutation_p.A232V|CD8A_uc010ytn.2_Missense_Mutation_p.A273V|CD8A_uc002sru.3_Missense_Mutation_p.A195V	NM_001768	NP_001759	P01732	CD8A_HUMAN	Homo sapiens CD8a molecule (CD8A), transcript variant 1, mRNA.	232					antigen processing and presentation|regulation of immune response|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	8						GACGTATCTCGCCGAAAGGCT	0.507													A	87013056	G	A	87013056	3	1	24	1	0	0	0	0	1	0	0	0	3074	1087	38	1	16	1	CD8A	2	87013056	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	50202536	87013056	156186317	8	1456											
TRIM43	129868	broad.mit.edu	37	chr2	96262159	96262159	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaatggaaatgtgtcataaAccagatgtggagctgctcca	13	10	10	8	0	1	1	1	0	0	1	2	3	2	3	2	2	3	2	2	2	4	2	rs149986492		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:96262159A>T	uc002suv.3	+	3	853	c.717A>T	c.(715-717)aaA>aaT	p.K239N		NM_138800	NP_620155	Q96BQ3	TRI43_HUMAN	Homo sapiens tripartite motif containing 43 (TRIM43), mRNA.	239						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGTGTCATAAACCAGATGTGG	0.413													T	96262159	A	T	96262159	3	4	24	1	0	0	0	0	1	0	0	0	16619	40	2	5	727	5	TRIM43	2	96262159	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08	9249103	96262159	146937214	9	1457											
GPR148	344561	broad.mit.edu	37	chr2	131486773	131486773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcactacagcttggccgGccctgatccagctcatcagc	7	8	11	15	1	2	1	2	1	0	0	3	1	3	1	3	3	4	3	3	3	1	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr2:131486773G>A	uc002trv.2	+	0	131	c.49G>A	c.(49-51)Gcc>Acc	p.A17T		NM_207364	NP_997247	Q8TDV2	GP148_HUMAN	Homo sapiens G protein-coupled receptor 148 (GPR148), mRNA.	17						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(15)|skin(3)|upper_aerodigestive_tract(1)	27	Colorectal(110;0.1)					AGCTTGGCCGGCCCTGATCCA	0.612													A	131486773	G	A	131486773	3	1	24	1	0	0	0	0	1	0	0	0	6707	1203	42	2	51	2	GPR148	2	131486773	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	35224614	131486773	111712600	10	1458											
DLEC1	9940	broad.mit.edu	37	chr3	38104257	38104257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccaaagaagccagcaccGataggagaattccagagtac	15	5	9	12	1	0	3	0	0	0	3	2	5	2	3	5	1	3	2	5	1	5	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:38104257G>A	uc003chp.1	+	4	1080	c.1059G>A	c.(1057-1059)ccG>ccA	p.P353P	DLEC1_uc003cho.1_Silent_p.P353P|DLEC1_uc010hgv.1_Silent_p.P353P|DLEC1_uc010hgw.1_Silent_p.P52P|DLEC1_uc003chq.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	353					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		AGCCAGCACCGATAGGAGAAT	0.463													A	38104257	G	A	38104257	2	1	24	1	0	0	0	0	0	0	0	1	4591	1045	37	1		1	DLEC1	3	38104257	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		38104257	159918173	11	1459											
ULK4	54986	broad.mit.edu	37	chr3	41953077	41953077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaccactcttgtgccctTttgcttgtctactctgagag	5	16	9	11	0	3	2	0	2	3	1	3	3	3	2	2	0	3	2	2	0	1	6			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr3:41953077T>G	uc003ckv.4	-	9	1172	c.971A>C	c.(970-972)aAa>aCa	p.K324T	ULK4_uc003ckw.2_Missense_Mutation_p.K324T|ULK4_uc003ckx.1_Missense_Mutation_p.K324T	NM_017886	NP_060356	Q96C45	ULK4_HUMAN	Homo sapiens unc-51-like kinase 4 (C. elegans) (ULK4), mRNA.	324							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTTGTGCCCTTTTGCTTGTCT	0.413													G	41953077	T	G	41953077	3	3	24	1	0	0	0	0	1	0	0	0	17080	1841	64	5	2968	5	ULK4	3	41953077	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	3848820	41953077	156069353	12	1460											
LRBA	987	broad.mit.edu	37	chr4	151788860	151788860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtgtctacccatacaCgccagccaccccactcatat	13	8	4	16	1	2	0	1	0	1	0	2	0	2	0	5	0	3	0	5	0	5	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr4:151788860C>T	uc010ipj.3	-	21	2973	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	LRBA_uc003ilu.4_Missense_Mutation_p.R910H	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	910						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TACCCATACACGCCAGCCACC	0.343													T	151788860	C	T	151788860	3	4	24	1	0	0	0	0	1	0	0	0	9001	536	19	1	6010	1	LRBA	4	151788860	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		151788860	39365416	13	1461											
PCDHGC5	56102	broad.mit.edu	37	chr5	140752102	140752102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctggcaatctccctgcGcctgcgatgctcctccagac	6	10	9	16	2	2	1	0	0	2	1	5	3	4	1	4	1	3	2	4	1	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:140752102G>A	uc003ljw.2	+	0	2141	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R714H|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	716					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCTCCCTGCGCCTGCGATGC	0.582													A	140752102	G	A	140752102	3	1	24	1	0	0	0	0	1	0	0	0	11647	1087	38	1		1	PCDHGC5	5	140752102	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		140752102	40163158	14	1462											
FLT4	2324	broad.mit.edu	37	chr5	180048197	180048197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgcatctccagcgagtcGctcacgttcaccaggaggtc	8	8	10	15	3	3	0	2	0	1	0	6	2	3	1	2	2	2	3	2	2	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr5:180048197G>A	uc003mlz.4	-	13	2155	c.2076C>T	c.(2074-2076)agC>agT	p.S692S	FLT4_uc003mma.4_Silent_p.S692S|FLT4_uc003mmb.1_Silent_p.S225S|FLT4_uc011dgy.2_Silent_p.S692S	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	692	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCAGCGAGTCGCTCACGTTCA	0.632													A	180048197	G	A	180048197	2	1	24	1	0	0	0	0	0	0	0	1	5993	1078	38	1		1	FLT4	5	180048197	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	39296095	180048197	867063	15	1463											
GRM4	2914	broad.mit.edu	37	chr6	34004373	34004373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccccggccagtgcatcCgctctatctggcaatgacag	7	8	10	16	3	2	1	0	1	2	0	4	1	4	1	4	2	1	4	4	2	2	1	rs142049660	by1000genomes	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:34004373C>T	uc003oir.4	-	7	1877	c.1514G>A	c.(1513-1515)cGg>cAg	p.R505Q	GRM4_uc011dsn.2_Missense_Mutation_p.R458Q|GRM4_uc010jvh.3_Missense_Mutation_p.R505Q|GRM4_uc010jvi.3_Missense_Mutation_p.R197Q|GRM4_uc003oio.3_Missense_Mutation_p.R197Q|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R365Q|GRM4_uc003oiq.3_Missense_Mutation_p.R372Q|GRM4_uc011dsm.2_Missense_Mutation_p.R336Q	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	505					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CCAGTGCATCCGCTCTATCTG	0.647													T	34004373	C	T	34004373	3	4	24	1	0	0	0	0	1	0	0	0	6854	652	23	1	1236	1	GRM4	6	34004373	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		34004373	137110694	16	1464											
DNAH8	1769	broad.mit.edu	37	chr6	38957817	38957817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaagatgtttgaaccGtcattctgcttttatactgg	10	15	10	6	1	2	3	1	2	1	2	2	4	2	3	1	1	3	2	1	1	4	5	rs143472136	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:38957817G>A	uc021yzh.1	+	87	13192	c.13083G>A	c.(13081-13083)ccG>ccA	p.P4361P	DNAH8_uc003ooe.2_Silent_p.P4144P	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTGAACCGTCATTCTGCT	0.368													A	38957817	G	A	38957817	2	1	24	1	0	0	0	0	0	0	0	1	4646	1132	40	1		1	DNAH8	6	38957817	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	4953444	38957817	132157250	17	1465											
OPN5	221391	broad.mit.edu	37	chr6	47763200	47763200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgatcgtgttctcctaCgtaaagatcattgccaaggt	9	13	10	9	2	2	2	1	1	1	1	4	2	2	2	2	1	2	3	2	1	4	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:47763200C>T	uc003ozc.3	+	3	685	c.657C>T	c.(655-657)taC>taT	p.Y219Y	OPN5_uc003ozd.3_Silent_p.Y54Y	NM_181744	NP_859528	Q6U736	OPN5_HUMAN	Homo sapiens opsin 5 (OPN5), transcript variant 1, mRNA.	219					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						TGTTCTCCTACGTAAAGATCA	0.512													T	47763200	C	T	47763200	2	4	24	1	0	0	0	0	0	0	0	1	10959	547	19	1		1	OPN5	6	47763200	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	8805383	47763200	123351867	18	1466											
PKHD1	5314	broad.mit.edu	37	chr6	51889738	51889738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgggaacaatgcaccGgatgagctcagcaccgatgt	10	7	12	12	2	1	1	1	1	0	0	1	4	1	3	3	2	4	3	3	2	2	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:51889738G>A	uc003pah.1	-	31	5146	c.4870C>T	c.(4870-4872)Cgg>Tgg	p.R1624W	PKHD1_uc003pai.3_Missense_Mutation_p.R1624W	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1624	IPT/TIG 11.		R -> W (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R1624W(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAATGCACCGGATGAGCTCA	0.507													A	51889738	G	A	51889738	3	1	24	1	0	0	0	0	1	0	0	0	12048	1115	39	1	7537	1	PKHD1	6	51889738	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	4126538	51889738	119225329	19	1467											
OOEP	441161	broad.mit.edu	37	chr6	74079390	74079390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctctcagttcctgcacCggaaaccaccagggccggat	8	7	12	14	2	2	0	1	0	1	0	4	2	3	2	5	4	2	2	5	4	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:74079390C>T	uc003pgu.4	-	0	126	c.126G>A	c.(124-126)ccG>ccA	p.P42P	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	42						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						GTTCCTGCACCGGAAACCACC	0.622													T	74079390	C	T	74079390	2	4	24	1	0	0	0	0	0	0	0	1	10946	639	23	1		1	OOEP	6	74079390	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	22189652	74079390	97035677	20	1468											
FILIP1	27145	broad.mit.edu	37	chr6	76024625	76024625	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctcttgagaaaacctcGaagccttgtgttcaaagtcc	11	11	8	11	1	2	1	1	1	1	1	4	3	3	1	3	0	3	2	3	0	4	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:76024625G>T	uc010kbe.3	-	5	1462	c.932C>A	c.(931-933)tCg>tAg	p.S311*	FILIP1_uc003phy.1_Nonsense_Mutation_p.S308*|FILIP1_uc003phz.3_Nonsense_Mutation_p.S209*|FILIP1_uc003pia.3_Nonsense_Mutation_p.S308*|FILIP1_uc003pib.1_Nonsense_Mutation_p.S60*	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGAAAACCTCGAAGCCTTGTG	0.423													T	76024625	G	T	76024625	4	4	24	1	0	0	0	0	0	1	0	0	5943	1059	37	4	2726	4	FILIP1	6	76024625	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1945235	76024625	95090442	21	1469											
SEC63	11231	broad.mit.edu	37	chr6	108225906	108225906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtagggcaggacacttTtttagcatgaattgctgatc	11	13	11	6	0	0	3	0	3	0	0	1	4	0	4	0	2	2	4	0	2	4	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:108225906T>G	uc003psc.4	-	10	1250	c.981A>C	c.(979-981)aaA>aaC	p.K327N	SEC63_uc003psb.4_Missense_Mutation_p.K187N	NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	327	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CAGGACACTTTTTTAGCATGA	0.348													G	108225906	T	G	108225906	3	3	24	1	0	0	0	0	1	0	0	0	14098	1838	64	5	1345	5	SEC63	6	108225906	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	32201281	108225906	62889161	22	1470											
GPR126	57211	broad.mit.edu	37	chr6	142736937	142736937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttcattttttaggaaaTtgcgaagggattatccctcc	9	18	7	7	1	1	0	1	0	0	0	3	3	3	2	2	2	1	0	2	2	4	8			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr6:142736937T>C	uc010khe.3	+	19	3085	c.2674T>C	c.(2674-2676)Ttg>Ctg	p.L892L	GPR126_uc010khc.3_Silent_p.L892L|GPR126_uc010khd.3_Silent_p.L864L|GPR126_uc010khf.3_Silent_p.L864L	NM_198569	NP_940971	Q86SQ4	GP126_HUMAN	Homo sapiens G protein-coupled receptor 126 (GPR126), transcript variant b1, mRNA.	892					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(10)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36	Breast(32;0.176)			OV - Ovarian serous cystadenocarcinoma(155;9.33e-06)|GBM - Glioblastoma multiforme(68;0.00121)		TTTTAGGAAATTGCGAAGGGA	0.403													C	142736937	T	C	142736937	2	2	24	1	0	0	0	0	0	0	0	1	6694	1490	52	3		3	GPR126	6	142736937	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	34511031	142736937	28378130	23	1471											
RUNDC3B	154661	broad.mit.edu	37	chr7	87258211	87258211	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaggcggcaagaaaagcctGagcgcccgcaatgctgcggt	10	4	16	11	4	0	2	0	1	0	1	0	3	0	3	2	4	4	3	2	4	4	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:87258211G>C	uc003ujb.3	+	0	483	c.72G>C	c.(70-72)ctG>ctC	p.L24L	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Silent_p.L24L|RUNDC3B_uc011khe.2_Silent_p.L24L|RUNDC3B_uc003ujc.3_Silent_p.L24L	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	24										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					AGAAAAGCCTGAGCGCCCGCA	0.716													C	87258211	G	C	87258211	2	2	24	1	0	0	0	0	0	0	0	1	13836	1277	45	4		4	RUNDC3B	7	87258211	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		87258211	71880452	24	1472											
RELN	5649	broad.mit.edu	37	chr7	103338350	103338350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgcctgtgtccactgggtCgagactatcttctaaaacga	9	12	10	10	2	2	1	0	0	2	1	4	3	3	1	2	1	2	1	2	1	3	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:103338350C>T	uc022ajr.1	-	9	1253	c.1093G>A	c.(1093-1095)Gac>Aac	p.D365N	RELN_uc022ajq.1_Missense_Mutation_p.D365N|RELN_uc010liz.3_Missense_Mutation_p.D365N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	365					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.L364I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCACTGGGTCGAGACTATCT	0.423													T	103338350	C	T	103338350	3	4	24	1	0	0	0	0	1	0	0	0	13308	884	31	1	9513	1	RELN	7	103338350	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	16080139	103338350	55800313	25	1473											
CHCHD3	54927	broad.mit.edu	37	chr7	132754903	132754903	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaattcagcaataccTgaggcaccataagcaccaga	18	7	6	10	0	1	2	1	1	0	1	1	2	1	2	3	1	3	3	3	1	6	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:132754903T>C	uc022alw.1	-	2	300	c.169_splice	c.e2+1	p.V57_splice	CHCHD3_uc003vre.3_Splice_Site_p.V57_splice|CHCHD3_uc010lmi.3_Splice_Site|CHCHD3_uc011kpn.1_Splice_Site_p.V57_splice	NM_017812	NP_060282	Q9NX63	CHCH3_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 3 (CHCHD3), mRNA.	57					inner mitochondrial membrane organization|mitochondrial fusion	mitochondrial inner membrane	protein complex scaffold			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	7						CAGCAATACCTGAGGCACCAT	0.378													C	132754903	T	C	132754903	2	2	24	1	0	0	0	0	0	0	0	1	3347	1594	55	3		3	CHCHD3	7	132754903	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	29416553	132754903	26383760	26	1474											
KEL	3792	broad.mit.edu	37	chr7	142655026	142655026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgttcggttaaagtttaagGaagtccatttaccagagatg	12	12	11	6	2	0	1	0	0	0	1	2	3	1	2	2	2	1	3	2	2	5	6			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:142655026G>T	uc003wcb.3	-	5	770	c.560C>A	c.(559-561)tCc>tAc	p.S187Y		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	187					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AAAGTTTAAGGAAGTCCATTT	0.517													T	142655026	G	T	142655026	3	4	24	1	0	0	0	0	1	0	0	0	8200	1174	41	4	1694	4	KEL	7	142655026	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	9900123	142655026	16483637	27	1475											
CLCN1	1180	broad.mit.edu	37	chr7	143036401	143036401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcggaggcttcatgcCtgtgtttgtgctaggtaagt	6	13	13	9	1	1	0	1	0	0	0	1	1	1	1	2	3	3	4	2	3	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr7:143036401C>G	uc003wcr.1	+	12	1544	c.1457C>G	c.(1456-1458)cCt>cGt	p.P486R	CLCN1_uc011ktc.1_Missense_Mutation_p.P98R	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	486					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GGCTTCATGCCTGTGTTTGTG	0.517													G	143036401	C	G	143036401	3	3	24	1	0	0	0	0	1	0	0	0	3493	681	24	4	1507	4	CLCN1	7	143036401	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	381375	143036401	16102262	28	1476											
ARHGEF10	9639	broad.mit.edu	37	chr8	1806268	1806268	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctggagccagtgaagcCcctgcacccacaggtgagtt	8	7	14	12	0	0	2	0	2	0	0	0	3	0	3	4	3	4	3	4	3	1	1	rs111294316	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:1806268C>A	uc003wpr.3	+	2	358	c.180C>A	c.(178-180)gcC>gcA	p.A60A	ARHGEF10_uc003wpq.1_Silent_p.A84A|ARHGEF10_uc003wps.3_Silent_p.A60A|ARHGEF10_uc003wpt.3_5'Flank|ARHGEF10_uc010lrd.2_5'Flank|ARHGEF10_uc003wpu.3_5'Flank	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	84					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		CCAGTGAAGCCCCTGCACCCA	0.617													A	1806268	C	A	1806268	2	1	24	1	0	0	0	0	0	0	0	1	897	610	22	4		4	ARHGEF10	8	1806268	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		1806268	144557754	29	1477											
TRIM55	84675	broad.mit.edu	37	chr8	67062093	67062093	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttatggatgagccaGaaatggcagtgtttctgcag	10	13	12	6	0	2	2	1	1	1	1	2	3	2	3	1	2	2	4	1	2	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr8:67062093G>T	uc003xvv.3	+	4	1043	c.817G>T	c.(817-819)Gaa>Taa	p.E273*	TRIM55_uc003xvu.3_Nonsense_Mutation_p.E273*|TRIM55_uc003xvw.3_Nonsense_Mutation_p.E273*|TRIM55_uc003xvx.3_Intron	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	273	COS.					cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GGATGAGCCAGAAATGGCAGT	0.378													T	67062093	G	T	67062093	4	4	24	1	0	0	0	0	0	1	0	0	16630	943	33	4	835	4	TRIM55	8	67062093	Nonsense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	65255825	67062093	79301929	30	1478											
DENND4C	55667	broad.mit.edu	37	chr9	19346294	19346294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagcacagatcatctcCggtgccagagatgcttgagg	9	9	12	11	1	2	4	1	2	1	2	4	5	3	4	3	2	3	2	3	2	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:19346294C>T	uc003znq.3	+	17	2752	c.2672C>T	c.(2671-2673)cCg>cTg	p.P891L	DENND4C_uc011lnc.2_Missense_Mutation_p.P221L|DENND4C_uc011lnd.2_Missense_Mutation_p.P179L|DENND4C_uc003znr.3_Missense_Mutation_p.P179L|DENND4C_uc003zns.3_Missense_Mutation_p.P73L|DENND4C_uc003znt.3_Missense_Mutation_p.P73L	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	891						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGATCATCTCCGGTGCCAGAG	0.443													T	19346294	C	T	19346294	3	4	24	1	0	0	0	0	1	0	0	0	4474	652	23	1	2742	1	DENND4C	9	19346294	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		19346294	121867137	31	1479											
PGM5	5239	broad.mit.edu	37	chr9	71080089	71080089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatctgatggactcaggacGttgcaatctgtgtggggaag	11	10	14	6	1	3	1	1	1	2	0	3	4	3	4	0	4	1	2	0	4	3	1	rs141668530		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:71080089G>A	uc004agr.3	+	6	1353	c.1124G>A	c.(1123-1125)cGt>cAt	p.R375H		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	375					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GACTCAGGACGTTGCAATCTG	0.473													A	71080089	G	A	71080089	3	1	24	1	0	0	0	0	1	0	0	0	11878	1145	40	1	1150	1	PGM5	9	71080089	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	51733795	71080089	70133342	32	1480											
APBA1	320	broad.mit.edu	37	chr9	72130983	72130983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggggctaatgtcctggcGcatgacccagatgggctctt	6	10	15	10	1	1	2	0	1	1	1	2	2	2	2	2	5	0	3	2	5	1	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:72130983G>A	uc004ahh.2	-	1	1420	c.1144C>T	c.(1144-1146)Cgc>Tgc	p.R382C		NM_001163	NP_001154	Q02410	APBA1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 1 (APBA1), mRNA.	382	LIN-2/CASK binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ATGTCCTGGCGCATGACCCAG	0.622													A	72130983	G	A	72130983	3	1	24	1	0	0	0	0	1	0	0	0	758	1087	38	1	1417	1	APBA1	9	72130983	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1050894	72130983	69082448	33	1481											
GOLGA2	2801	broad.mit.edu	37	chr9	131020819	131020821	+	In_Frame_Del	DEL	TCC	TCC	-																															cctcctcctcctcctcctcaTcctcctcctcctcccggtcc																										TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:131020819_131020821delTCC	uc011maw.2	-	20	2134_2136	c.2121_2123delGGA	c.(2119-2124)gaggat>gat	p.E707del	GOLGA2_uc010mxw.3_Intron|GOLGA2_uc004buh.3_In_Frame_Del_p.E180del|JA429730_uc022bod.1_5'Flank|DQ583692_uc022bog.1_5'Flank	NM_004486	NP_004477	Q08379	GOGA2_HUMAN	Homo sapiens golgin A2 (GOLGA2), mRNA.	707	Poly-Glu.					Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						ctcctcctcatcctcctcctcct	0.65													-	131020821	TCC	-	131020819	7	5	24	1	0	1	0	1	0	0	0	0	6608	1435	50	0	909	0	GOLGA2	9	131020819	In_Frame_Del	DEL	TCC	TCGA-06-0152-01A-02W-0323-08	58889836	131020819	10192612	34	1482											
SOHLH1	402381	broad.mit.edu	37	chr9	138586907	138586907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactcacccggcctcctgCgccagcatggggtcctcctt	4	8	11	18	2	1	0	1	0	0	0	4	0	4	0	6	4	2	2	6	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr9:138586907C>T	uc010nbe.3	-	5	925	c.864G>A	c.(862-864)gcG>gcA	p.A288A	SOHLH1_uc004cgl.3_Silent_p.A288A	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	288					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.A288A(3)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		CGGCCTCCTGCGCCAGCATGG	0.697													T	138586907	C	T	138586907	2	4	24	1	0	0	0	0	0	0	0	1	15017	755	27	1		1	SOHLH1	9	138586907	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	7566088	138586907	2626524	35	1483											
KIAA1217	56243	broad.mit.edu	37	chr10	24762771	24762771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgatagacatgcaCgctcactataatgcccacgg	12	8	10	11	2	1	3	1	2	0	1	1	4	1	4	1	2	2	2	1	2	3	3	rs143282203	byFrequency	TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:24762771C>T	uc001iru.4	+	5	1864	c.1461C>T	c.(1459-1461)caC>caT	p.H487H	KIAA1217_uc001irs.3_Silent_p.H407H|KIAA1217_uc001irt.4_Silent_p.H487H|KIAA1217_uc010qcy.2_Silent_p.H487H|KIAA1217_uc010qcz.2_Silent_p.H487H|KIAA1217_uc001irv.1_Silent_p.H337H|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Silent_p.H205H|KIAA1217_uc001irz.3_Silent_p.H205H|KIAA1217_uc001irx.3_Silent_p.H205H|KIAA1217_uc001iry.3_Silent_p.H205H	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	487					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAGACATGCACGCTCACTATA	0.557													T	24762771	C	T	24762771	2	4	24	1	0	0	0	0	0	0	0	1	8274	535	19	1		1	KIAA1217	10	24762771	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		24762771	110771976	36	1484											
KIAA1462	57608	broad.mit.edu	37	chr10	30315407	30315407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagagcctgccacacttgGggttctttctacaaaatgga	10	12	9	10	0	3	1	1	0	2	1	3	2	3	2	2	3	3	1	2	3	3	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:30315407G>C	uc009xle.2	-	2	3807	c.3670C>G	c.(3670-3672)Cca>Gca	p.P1224A	KIAA1462_uc001iux.3_Missense_Mutation_p.P1224A|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.P1086A	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1224										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCCACACTTGGGGTTCTTTCT	0.488													C	30315407	G	C	30315407	3	2	24	1	0	0	0	0	1	0	0	0	8292	1232	43	4	417	4	KIAA1462	10	30315407	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	5552636	30315407	105219340	37	1485											
DOCK1	1793	broad.mit.edu	37	chr10	129231688	129231688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttccagaccaggctccGacgggtgagtcaagctcaca	9	6	10	16	2	2	2	2	1	0	1	4	3	4	2	5	2	1	2	5	2	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr10:129231688G>T	uc010qun.2	+	47	5120	c.5056G>T	c.(5056-5058)Gac>Tac	p.D1686Y	DOCK1_uc001ljt.3_Missense_Mutation_p.D1665Y|DOCK1_uc009yaq.3_Missense_Mutation_p.D660Y	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	1665					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.D1665Y(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACCAGGCTCCGACGGGTGAGT	0.597													T	129231688	G	T	129231688	3	4	24	1	0	0	0	0	1	0	0	0	4723	1058	37	4	5183	4	DOCK1	10	129231688	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	98916281	129231688	6303059	38	1486											
NELL1	4745	broad.mit.edu	37	chr11	20949959	20949959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgaaggatgtcctgtcccCctctcaattgctccccagac	7	9	8	17	1	1	1	1	0	1	1	5	3	4	2	6	1	1	1	6	1	2	1	rs150066751		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:20949959C>T	uc009yid.3	+	9	1168	c.1015C>T	c.(1015-1017)Cct>Tct	p.P339S	NELL1_uc010rdp.2_Missense_Mutation_p.P71S|NELL1_uc001mqe.3_Missense_Mutation_p.P311S|NELL1_uc001mqf.3_Missense_Mutation_p.P311S|NELL1_uc010rdo.2_Missense_Mutation_p.P254S	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	311	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GTCCTGTCCCCCTCTCAATTG	0.537													T	20949959	C	T	20949959	3	4	24	1	0	0	0	0	1	0	0	0	10409	623	22	2	965	2	NELL1	11	20949959	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		20949959	114056557	39	1487											
PACS1	55690	broad.mit.edu	37	chr11	65988123	65988123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctttgggctggagcatGtgtcccgcgagcagatccgg	5	9	17	10	3	0	1	0	0	0	1	2	3	2	2	2	4	2	4	2	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr11:65988123G>A	uc001oha.2	+	8	1194	c.1060G>A	c.(1060-1062)Gtg>Atg	p.V354M		NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	354					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						GCTGGAGCATGTGTCCCGCGA	0.517													A	65988123	G	A	65988123	3	1	24	1	0	0	0	0	1	0	0	0	11448	1377	48	2	1094	2	PACS1	11	65988123	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	45038164	65988123	69018393	40	1488											
PRMT8	56341	broad.mit.edu	37	chr12	3649947	3649947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgactcctatgcccactttgGgatccacgaggtaaagtgtc	9	10	10	12	2	0	0	0	0	0	0	3	3	2	1	3	2	1	1	3	2	3	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:3649947G>T	uc001qmf.3	+	1	618	c.251G>T	c.(250-252)gGg>gTg	p.G84V	PRMT8_uc009zed.3_Missense_Mutation_p.G75V|PRMT8_uc009zee.1_Non-coding_Transcript	NM_019854	NP_062828	Q9NR22	ANM8_HUMAN	Homo sapiens protein arginine methyltransferase 8 (PRMT8), mRNA.	84					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCCCACTTTGGGATCCACGAG	0.532													T	3649947	G	T	3649947	3	4	24	1	0	0	0	0	1	0	0	0	12628	1232	43	4	257	4	PRMT8	12	3649947	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		3649947	130201948	41	1489											
TMEM132D	121256	broad.mit.edu	37	chr12	129694197	129694197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaggatggctgtgttcagGatttctgcctcctggaagac	7	12	14	8	0	2	2	1	1	1	1	3	5	3	5	2	4	1	2	2	4	1	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr12:129694197G>A	uc009zyl.1	-	4	1639	c.1311C>T	c.(1309-1311)atC>atT	p.I437I		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	437						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTGTGTTCAGGATTTCTGCCT	0.617													A	129694197	G	A	129694197	2	1	24	1	0	0	0	0	0	0	0	1	16147	1164	41	2		2	TMEM132D	12	129694197	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	126044250	129694197	4157698	42	1490											
MTUS2	23281	broad.mit.edu	37	chr13	29599308	29599308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaaattccccggcatgTtcccaaggataaactggcaa	12	9	9	11	1	0	1	0	1	0	0	2	2	2	2	3	3	2	4	3	3	5	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:29599308T>C	uc001usl.4	+	0	561	c.503T>C	c.(502-504)gTt>gCt	p.V168A		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	158						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.R168W(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CCCCGGCATGTTCCCAAGGAT	0.507													C	29599308	T	C	29599308	3	2	24	1	0	0	0	0	1	0	0	0	10042	1725	60	3	505	3	MTUS2	13	29599308	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08		29599308	85570570	43	1491											
SLITRK6	84189	broad.mit.edu	37	chr13	86370526	86370526	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattagcattgtgccatcttTttcctcacaattgcaaagag	11	15	6	9	0	2	1	1	0	1	1	3	1	3	1	2	0	3	2	2	0	4	6			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr13:86370526T>G	uc001vll.1	-	1	577	c.118A>C	c.(118-120)Aaa>Caa	p.K40Q	SLITRK6_uc021rla.1_Missense_Mutation_p.K40Q	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	40	LRRNT 1.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GTGCCATCTTTTTCCTCACAA	0.388													G	86370526	T	G	86370526	3	3	24	1	0	0	0	0	1	0	0	0	14841	1850	64	5	2411	5	SLITRK6	13	86370526	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	56771218	86370526	28799352	44	1492											
FOXA1	3169	broad.mit.edu	37	chr14	38060897	38060897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagaggccagcgccccGggcccggagcttatgggggg	6	3	19	13	3	0	1	0	0	0	1	0	2	0	2	4	7	2	2	4	7	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:38060897G>A	uc001wuf.3	-	1	1404	c.1092C>T	c.(1090-1092)ccC>ccT	p.P364P	FOXA1_uc010tpz.2_Silent_p.P331P	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	364					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCAGCGCCCCGGGCCCGGAGC	0.697													A	38060897	G	A	38060897	2	1	24	1	0	0	0	0	0	0	0	1	6038	1103	39	1		1	FOXA1	14	38060897	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		38060897	69288643	45	1493											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055586	72055586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccaaagtgctttgccCactatgatgtccagagtata	11	12	8	10	0	0	2	0	1	0	1	2	2	2	2	3	0	2	2	3	0	4	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:72055586C>T	uc001xms.3	+	1	1358	c.997C>T	c.(997-999)Cac>Tac	p.H333Y	SIPA1L1_uc001xmt.3_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmu.3_Missense_Mutation_p.H333Y|SIPA1L1_uc001xmv.3_Missense_Mutation_p.H333Y	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	333					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GTGCTTTGCCCACTATGATGT	0.448													T	72055586	C	T	72055586	3	4	24	1	0	0	0	0	1	0	0	0	14423	594	21	2	999	2	SIPA1L1	14	72055586	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	33994689	72055586	35293954	46	1494											
FAM181A	90050	broad.mit.edu	37	chr14	94394688	94394688	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtgaacctggcgtccagCgacatcaaggcagccctgga	9	7	12	13	3	1	1	1	1	0	0	3	3	2	2	3	3	3	1	3	3	2	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94394688C>T	uc001ybz.2	+	2	568	c.243C>T	c.(241-243)agC>agT	p.S81S	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.S19S|FAM181A_uc021saz.1_Silent_p.S19S|FAM181A_uc010aus.2_Silent_p.S19S|FAM181A_uc001yca.2_Silent_p.S19S	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	81										cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGGCGTCCAGCGACATCAAGG	0.587													T	94394688	C	T	94394688	2	4	24	1	0	0	0	0	0	0	0	1	5554	767	27	1		1	FAM181A	14	94394688	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	22339102	94394688	12954852	47	1495											
SERPINA11	256394	broad.mit.edu	37	chr14	94914503	94914503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattggcaagaaccatgaaCgtgtcctggctgaactccgg	11	9	11	10	2	0	3	0	2	0	1	2	3	2	3	3	3	3	2	3	3	5	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr14:94914503C>T	uc001ydd.1	-	1	669	c.609G>A	c.(607-609)acG>acA	p.T203T		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	203					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAACCATGAACGTGTCCTGGC	0.473													T	94914503	C	T	94914503	2	4	24	1	0	0	0	0	0	0	0	1	14181	523	19	1		1	SERPINA11	14	94914503	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	519815	94914503	12435037	48	1496											
RYR3	6263	broad.mit.edu	37	chr15	34077951	34077951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcaacgacctggccgaGtcaggggcccggtacacaga	12	4	13	12	3	2	1	2	0	0	1	2	4	2	1	3	4	2	1	3	4	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:34077951G>T	uc001zhi.3	+	65	9427	c.9357G>T	c.(9355-9357)gaG>gaT	p.E3119D	RYR3_uc010bar.3_Missense_Mutation_p.E3119D	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3119					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACCTGGCCGAGTCAGGGGCCC	0.567													T	34077951	G	T	34077951	3	4	24	1	0	0	0	0	1	0	0	0	13861	1020	36	4	9619	4	RYR3	15	34077951	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		34077951	68453441	49	1497											
TYRO3	7301	broad.mit.edu	37	chr15	41860451	41860451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaacctccatgccatccGcacagattcaggcctcatct	11	8	5	17	1	3	1	2	0	1	1	5	1	5	1	6	1	2	1	6	1	2	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:41860451G>A	uc001zof.2	+	7	1234	c.998G>A	c.(997-999)cGc>cAc	p.R333H		NM_006293	NP_006284	Q06418	TYRO3_HUMAN	Homo sapiens TYRO3 protein tyrosine kinase (TYRO3), mRNA.	333	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CATGCCATCCGCACAGATTCA	0.562													A	41860451	G	A	41860451	3	1	24	1	0	0	0	0	1	0	0	0	16916	1087	38	1	1028	1	TYRO3	15	41860451	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	7782500	41860451	60670941	50	1498											
CCDC33	80125	broad.mit.edu	37	chr15	74554903	74554903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagatccaagctgaggatgCagggcaagaaggtaagcagg	14	4	17	6	0	0	3	0	1	0	2	1	5	1	4	1	5	3	5	1	5	4	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:74554903C>T	uc002axo.3	+	2	702	c.308C>T	c.(307-309)gCa>gTa	p.A103V		NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	306							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTGAGGATGCAGGGCAAGAA	0.587													T	74554903	C	T	74554903	3	4	24	1	0	0	0	0	1	0	0	0	2833	710	25	2	318	2	CCDC33	15	74554903	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	32694452	74554903	27976489	51	1499											
BCL2A1	597	broad.mit.edu	37	chr15	80263133	80263133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttataggtatccacatccGgggcaatttgctgtcgtaga	9	12	10	10	2	0	1	0	0	0	1	3	1	2	1	3	3	1	4	3	3	5	5	rs143571009		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:80263133G>A	uc002bfc.4	-	0	511	c.329C>T	c.(328-330)cCg>cTg	p.P110L	BCL2A1_uc002bfd.4_Missense_Mutation_p.P110L	NM_004049	NP_004040	Q16548	B2LA1_HUMAN	Homo sapiens BCL2-related protein A1 (BCL2A1), transcript variant 1, mRNA.	110					anti-apoptosis|apoptosis	cytoplasm	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATCCACATCCGGGGCAATTTG	0.403													A	80263133	G	A	80263133	3	1	24	1	0	0	0	0	1	0	0	0	1371	1116	39	1	266	1	BCL2A1	15	80263133	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	5708230	80263133	22268259	52	1500											
ALPK3	57538	broad.mit.edu	37	chr15	85400203	85400203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaactcccacctacagCgggtcctagagctcctctga	9	7	7	18	1	1	2	0	1	1	1	4	2	4	2	6	1	4	1	6	1	3	2	rs142677464		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:85400203C>A	uc002ble.3	+	5	3007	c.2840C>A	c.(2839-2841)gCg>gAg	p.A947E		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	947					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCACCTACAGCGGGTCCTAGA	0.562													A	85400203	C	A	85400203	3	1	24	1	0	0	0	0	1	0	0	0	546	768	27	4	2862	4	ALPK3	15	85400203	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	5137070	85400203	17131189	53	1501											
PEX11A	8800	broad.mit.edu	37	chr15	90226684	90226684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggacacaagacctccaagtCcaatgatgccaggattggat	14	7	10	10	0	0	2	0	1	0	1	2	5	2	5	4	3	1	0	4	3	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr15:90226684C>T	uc002boi.3	-	2	763	c.668G>A	c.(667-669)gGa>gAa	p.G223E	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	223					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCTCCAAGTCCAATGATGCC	0.483													T	90226684	C	T	90226684	3	4	24	1	0	0	0	0	1	0	0	0	11814	855	30	2	79	2	PEX11A	15	90226684	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	4826481	90226684	12304708	54	1502											
ALG1	56052	broad.mit.edu	37	chr16	5128838	5128838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctggtgacgcgtctccGtgagcggccagccctgctgg	3	7	17	14	5	1	2	0	2	1	0	2	2	1	2	3	4	3	2	3	4	0	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr16:5128838G>A	uc002cym.3	+	6	862	c.821G>A	c.(820-822)cGt>cAt	p.R274H	ALG1_uc002cyj.3_Missense_Mutation_p.R163H|ALG1_uc010bue.3_Missense_Mutation_p.R163H	NM_019109	NP_061982	Q9BT22	ALG1_HUMAN	Homo sapiens asparagine-linked glycosylation 1, beta-1,4-mannosyltransferase homolog (S. cerevisiae) (ALG1), mRNA.	274					dolichol-linked oligosaccharide biosynthetic process|lipopolysaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	chitobiosyldiphosphodolichol beta-mannosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(90;0.0164)				ACGCGTCTCCGTGAGCGGCCA	0.652													A	5128838	G	A	5128838	3	1	24	1	0	0	0	0	1	0	0	0	510	1145	40	1	847	1	ALG1	16	5128838	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08		5128838	85225915	55	1503											
TAX1BP3	30851	broad.mit.edu	37	chr17	3567085	3567085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccttctgcagcgactgcCgcgtcaccagcagacgcacc	7	5	11	18	5	2	1	1	0	1	1	2	2	2	1	4	1	4	3	4	1	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:3567085C>T	uc002fwc.3	-	3	485	c.332G>A	c.(331-333)cGg>cAg	p.R111Q	TAX1BP3_uc021tnt.1_Missense_Mutation_p.R85Q|P2RX5_uc002fwd.3_Non-coding_Transcript|TAX1BP3_uc002fwe.1_3'UTR	NM_014604	NP_055419	O14907	TX1B3_HUMAN	Homo sapiens Tax1 (human T-cell leukemia virus type I) binding protein 3 (TAX1BP3), transcript variant 1, mRNA.	111	PDZ.				activation of Cdc42 GTPase activity|negative regulation of protein localization at cell surface|negative regulation of Wnt receptor signaling pathway|Rho protein signal transduction|Wnt receptor signaling pathway	cytoplasm|nucleus	protein C-terminus binding			endometrium(1)	1				COAD - Colon adenocarcinoma(5;0.0761)		CAGCGACTGCCGCGTCACCAG	0.647													T	3567085	C	T	3567085	3	4	24	1	0	0	0	0	1	0	0	0	15692	652	23	1	46	1	TAX1BP3	17	3567085	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08		3567085	77628125	56	1504											
ENO3	2027	broad.mit.edu	37	chr17	4860277	4860277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcctgcattctaggatcGaggaggctcttggggacaag	8	10	14	9	1	2	0	0	0	2	0	3	4	2	3	1	5	2	2	1	5	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:4860277G>A	uc010vst.2	+	7	903	c.721G>A	c.(721-723)Gag>Aag	p.E241K	ENO3_uc002gab.4_Missense_Mutation_p.E414K|ENO3_uc002gac.4_Missense_Mutation_p.E414K|ENO3_uc010vss.2_Missense_Mutation_p.E371K	NM_001193503	NP_001180432	P13929	ENOB_HUMAN	Homo sapiens enolase 3 (beta, muscle) (ENO3), transcript variant 3, mRNA.	414					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TTCTAGGATCGAGGAGGCTCT	0.577											OREG0024110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4860277	G	A	4860277	3	1	24	1	0	0	0	0	1	0	0	0	5164	1059	37	1	1282	1	ENO3	17	4860277	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	1293192	4860277	76334933	57	1505											
ALOX12B	242	broad.mit.edu	37	chr17	7984477	7984477	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtgctccaggaggacGgggagcgagtcatctgctgt	6	11	15	9	2	3	0	1	0	2	0	4	4	4	3	1	4	3	2	1	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:7984477G>A	uc002gjy.1	-	2	642	c.381C>T	c.(379-381)ccC>ccT	p.P127P	BC046191_uc010cnq.2_Non-coding_Transcript	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	127	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CCAGGAGGACGGGGAGCGAGT	0.617										Multiple Myeloma(8;0.094)			A	7984477	G	A	7984477	2	1	24	1	0	0	0	0	0	0	0	1	537	1103	39	1		1	ALOX12B	17	7984477	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	3124200	7984477	73210733	58	1506											
USH1G	124590	broad.mit.edu	37	chr17	72916074	72916074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggctcggccgccagcgtgGcacgggagacgctgtcctcg	5	5	16	15	6	0	1	0	0	0	1	3	2	1	1	3	4	1	3	3	4	0	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:72916074G>A	uc002jme.1	-	1	1040	c.857C>T	c.(856-858)gCc>gTc	p.A286V	USH1G_uc010wro.1_Missense_Mutation_p.A183V	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	286					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CGCCAGCGTGGCACGGGAGAC	0.687													A	72916074	G	A	72916074	3	1	24	1	0	0	0	0	1	0	0	0	17137	1203	42	2	536	2	USH1G	17	72916074	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	64931597	72916074	8279136	59	1507											
FOXJ1	2302	broad.mit.edu	37	chr17	74136123	74136123	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtagggaggcttcacgtgCggattggtggcgtagtccac	7	9	17	8	3	1	0	1	0	0	0	2	3	2	2	1	5	1	3	1	5	2	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr17:74136123C>A	uc002jqx.3	-	1	709	c.354G>T	c.(352-354)ccG>ccT	p.P118P	LOC100507218_uc002jqy.2_5'Flank	NM_001454	NP_001445	Q92949	FOXJ1_HUMAN	Homo sapiens forkhead box J1 (FOXJ1), mRNA.	118					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GCTTCACGTGCGGATTGGTGG	0.667													A	74136123	C	A	74136123	2	1	24	1	0	0	0	0	0	0	0	1	6062	755	27	4		4	FOXJ1	17	74136123	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08	1220049	74136123	7059087	60	1508											
FAM59A	64762	broad.mit.edu	37	chr18	29890192	29890192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcctccatgacgtacacGcgttcaggaaatgccttagc	11	10	8	12	3	1	1	1	1	0	0	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:29890192G>A	uc002kxl.3	-	2	413	c.357C>T	c.(355-357)cgC>cgT	p.R119R	FAM59A_uc002kxk.2_Silent_p.R119R	NM_001242409	NP_001229338	Q9H706	FA59A_HUMAN	Homo sapiens family with sequence similarity 59, member A (FAM59A), transcript variant 1, mRNA.	119	CABIT.							p.R119C(1)		endometrium(9)|kidney(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	36						TGACGTACACGCGTTCAGGAA	0.413													A	29890192	G	A	29890192	2	1	24	1	0	0	0	0	0	0	0	1	5642	1074	38	1		1	FAM59A	18	29890192	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08		29890192	48187056	61	1509											
SERPINB5	5268	broad.mit.edu	37	chr18	61156656	61156656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagataaattggaagaaaCgaaaggtcagatcaacaact	21	6	8	6	1	2	3	2	0	0	3	2	5	2	4	0	2	3	0	0	2	8	2	rs145559318		TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr18:61156656C>T	uc002liz.4	+	3	525	c.383C>T	c.(382-384)aCg>aTg	p.T128M	SERPINB5_uc002liy.2_Missense_Mutation_p.T128M	NM_002639	NP_002630	P36952	SPB5_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 5 (SERPINB5), mRNA.	128					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						TTGGAAGAAACGAAAGGTCAG	0.388													T	61156656	C	T	61156656	3	4	24	1	0	0	0	0	1	0	0	0	14197	536	19	1	393	1	SERPINB5	18	61156656	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	31266464	61156656	16920592	62	1510											
MUC16	94025	broad.mit.edu	37	chr19	9067989	9067989	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctactcgtaagagtggacAaatctaattgtgaaaatcca	15	11	7	8	1	2	2	0	1	2	1	4	3	3	3	1	1	1	1	1	1	6	4			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:9067989A>G	uc002mkp.3	-	2	19661	c.19457T>C	c.(19456-19458)tTg>tCg	p.L6486S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6488	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						AAGAGTGGACAAATCTAATTG	0.488													G	9067989	A	G	9067989	3	3	24	1	0	0	0	0	1	0	0	0	10049	131	5	3	24394	3	MUC16	19	9067989	Missense_Mutation	SNP	A	TCGA-06-0152-01A-02W-0323-08		9067989	50060994	63	1511											
SLC44A2	57153	broad.mit.edu	37	chr19	10742381	10742381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacgacctatgaggatggGcatggctcccggaaaaacat	13	6	13	9	2	0	2	0	1	0	1	1	6	1	4	2	4	1	2	2	4	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:10742381G>A	uc002mpf.3	+	7	721	c.582G>A	c.(580-582)ggG>ggA	p.G194G	SLC44A2_uc002mpe.4_Silent_p.G192G	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	194					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	ATGAGGATGGGCATGGCTCCC	0.602													A	10742381	G	A	10742381	2	1	24	1	0	0	0	0	0	0	0	1	14730	1190	42	2		2	SLC44A2	19	10742381	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	1674392	10742381	48386602	64	1512											
PSG7	5676	broad.mit.edu	37	chr19	43429925	43429925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctgggatccacttacCagagactctgactgtcacgg	9	9	12	11	1	2	2	1	1	1	1	3	5	3	4	2	3	2	1	2	3	1	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:43429925C>A	uc002ovl.4	-	6	1342	c.1240_splice	c.e6+1	p.D414_splice	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Splice_Site_p.D293_splice	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	415					female pregnancy	extracellular region							Prostate(69;0.00682)				ATCCACTTACCAGAGACTCTG	0.483													A	43429925	C	A	43429925	3	1	24	1	0	0	0	0	1	0	0	0	12745	608	21	4	24	4	PSG7	19	43429925	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	32687544	43429925	15699058	65	1513											
ZNF45	7596	broad.mit.edu	37	chr19	44417709	44417709	+	Frame_Shift_Del	DEL	G	G	-																															aactctttgatgggcttgaaGgtatgagctccagctgaaga																										TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:44417709delG	uc002oxu.2	-	3	1978	c.1879delC	c.(1879-1881)cttfs	p.L627fs	ZNF45_uc002oxw.2_Frame_Shift_Del_p.L627fs	NM_003425	NP_003416	Q02386	ZNF45_HUMAN	Homo sapiens zinc finger protein 45 (ZNF45), mRNA.	627					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						TGGGCTTGAAGGTATGAGCTC	0.488													-	44417709	G	-	44417709	7	5	24	1	0	1	0	1	0	0	0	0	18022	1000	35	0	173	0	ZNF45	19	44417709	Frame_Shift_Del	DEL	G	TCGA-06-0152-01A-02W-0323-08	987784	44417709	14711274	66	1514											
CEACAM20	125931	broad.mit.edu	37	chr19	45029207	45029207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacatcctcactttgggtGgcatcaagtgggttggcatt	9	12	11	9	0	2	0	2	0	0	0	3	0	3	0	1	4	1	3	1	4	2	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:45029207G>A	uc010ejn.1	-	1	139	c.123C>T	c.(121-123)gcC>gcT	p.A41A	CEACAM20_uc010ejo.1_Silent_p.A41A|CEACAM20_uc010ejp.1_Silent_p.A41A|CEACAM20_uc010ejq.1_Silent_p.A41A	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	41			A -> V (in dbSNP:rs10408247).			integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				CACTTTGGGTGGCATCAAGTG	0.562													A	45029207	G	A	45029207	2	1	24	1	0	0	0	0	0	0	0	1	3221	1335	47	2		2	CEACAM20	19	45029207	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	611498	45029207	14099776	67	1515											
ZNF83	55769	broad.mit.edu	37	chr19	53116375	53116375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgaaatgtttctcTccagtgtggatcgcatgatg	9	16	9	7	1	1	2	0	2	1	0	4	3	2	3	1	1	1	2	1	1	2	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:53116375T>C	uc002pzu.4	-	1	2687	c.1443A>G	c.(1441-1443)ggA>ggG	p.G481G	ZNF83_uc002pzv.4_Silent_p.G481G|ZNF83_uc010eps.3_Silent_p.G453G|ZNF83_uc010ept.3_Silent_p.G481G|ZNF83_uc010epu.3_Silent_p.G481G|ZNF83_uc010epw.3_Silent_p.G481G|ZNF83_uc010epv.3_Silent_p.G481G|ZNF83_uc010epx.3_Silent_p.G453G|ZNF83_uc010epy.3_Silent_p.G481G|ZNF83_uc010epz.3_Silent_p.G453G|ZNF83_uc010eqb.2_Silent_p.G453G|ZNF83_uc021uyx.1_Silent_p.G481G	NM_018300	NP_060770	P51522	ZNF83_HUMAN	Homo sapiens zinc finger protein 83 (ZNF83), transcript variant 5, mRNA.	481						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		AATGTTTCTCTCCAGTGTGGA	0.388													C	53116375	T	C	53116375	2	2	24	1	0	0	0	0	0	0	0	1	18282	1538	54	3		3	ZNF83	19	53116375	Silent	SNP	T	TCGA-06-0152-01A-02W-0323-08	8087168	53116375	6012608	68	1516											
TMC4	147798	broad.mit.edu	37	chr19	54669199	54669199	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagccgcacgtggacgTccccgcagagaccgaagtcc	8	3	14	16	6	0	1	0	0	0	1	2	4	2	2	5	2	1	3	5	2	1	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:54669199T>G	uc010erf.3	-	5	1049	c.917A>C	c.(916-918)gAc>gCc	p.D306A	TMC4_uc002qdn.3_5'Flank|TMC4_uc002qdo.3_Missense_Mutation_p.D300A	NM_001145303	NP_001138775	Q7Z404	TMC4_HUMAN	Homo sapiens transmembrane channel-like 4 (TMC4), transcript variant 1, mRNA.	306						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACGTGGACGTCCCCGCAGAG	0.632													G	54669199	T	G	54669199	3	3	24	1	0	0	0	0	1	0	0	0	16087	1667	58	5	1261	5	TMC4	19	54669199	Missense_Mutation	SNP	T	TCGA-06-0152-01A-02W-0323-08	1552824	54669199	4459784	69	1517											
NLRP9	338321	broad.mit.edu	37	chr19	56244390	56244390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaatgcaataaggagagaGgattctggaagcatcttttt	13	12	10	6	0	2	1	0	0	2	1	2	5	2	4	1	3	2	2	1	3	4	5			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr19:56244390G>A	uc002qly.3	-	1	835	c.807C>T	c.(805-807)tcC>tcT	p.S269S		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	269	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TAAGGAGAGAGGATTCTGGAA	0.408													A	56244390	G	A	56244390	2	1	24	1	0	0	0	0	0	0	0	1	10560	987	35	2		2	NLRP9	19	56244390	Silent	SNP	G	TCGA-06-0152-01A-02W-0323-08	1575191	56244390	2884593	70	1518											
PLCB1	23236	broad.mit.edu	37	chr20	8352082	8352082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccagatgtgggagacaCgccaaagctcccaaggtagg	12	5	14	10	1	0	2	0	0	0	2	1	4	1	2	3	3	2	2	3	3	3	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:8352082C>T	uc002wnb.3	+	2	234	c.231C>T	c.(229-231)caC>caT	p.H77H	PLCB1_uc010zrb.1_5'UTR|PLCB1_uc010gbv.1_Silent_p.H77H|PLCB1_uc002wmz.1_Silent_p.H77H|PLCB1_uc002wna.3_Silent_p.H77H	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	77					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						GTGGGAGACACGCCAAAGCTC	0.468													T	8352082	C	T	8352082	2	4	24	1	0	0	0	0	0	0	0	1	12104	535	19	1		1	PLCB1	20	8352082	Silent	SNP	C	TCGA-06-0152-01A-02W-0323-08		8352082	54673438	71	1519											
SSTR4	6754	broad.mit.edu	37	chr20	23016952	23016952	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggatgcctttctacgtgGtgcagctgctgaacctcttc	5	13	11	12	1	2	1	0	1	2	0	3	2	2	2	2	2	6	4	2	2	2	3			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:23016952G>T	uc002wsr.2	+	0	896	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	278					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TTTCTACGTGGTGCAGCTGCT	0.577													T	23016952	G	T	23016952	3	4	24	1	0	0	0	0	1	0	0	0	15296	1261	44	4	834	4	SSTR4	20	23016952	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	14664870	23016952	40008568	72	1520											
PREX1	57580	broad.mit.edu	37	chr20	47244458	47244458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcaacccgtggctccGtgccaagatggccgcctgct	6	6	14	15	3	0	1	0	0	0	1	1	1	1	1	5	3	4	4	5	3	2	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:47244458G>A	uc002xtw.1	-	37	4833	c.4810C>T	c.(4810-4812)Cgg>Tgg	p.R1604W	PREX1_uc021wer.1_5'Flank|PREX1_uc002xtv.1_Missense_Mutation_p.R901W	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1604					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R1604W(2)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGTGGCTCCGTGCCAAGATG	0.692													A	47244458	G	A	47244458	3	1	24	1	0	0	0	0	1	0	0	0	12562	1144	40	1	181	1	PREX1	20	47244458	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	24227506	47244458	15781062	73	1521											
KCNG1	3755	broad.mit.edu	37	chr20	49621144	49621144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcgccgggcttgcgaCggcctgcggcggcgccgtcc	1	5	17	18	9	0	0	0	0	0	0	1	1	1	0	5	4	3	1	5	4	0	1			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr20:49621144C>T	uc002xwa.4	-	2	1269	c.974G>A	c.(973-975)cGt>cAt	p.R325H		NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	325						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGGCTTGCGACGGCCTGCGGC	0.701													T	49621144	C	T	49621144	3	4	24	1	0	0	0	0	1	0	0	0	8085	536	19	1	571	1	KCNG1	20	49621144	Missense_Mutation	SNP	C	TCGA-06-0152-01A-02W-0323-08	2376686	49621144	13404376	74	1522											
SCARF2	91179	broad.mit.edu	37	chr22	20784714	20784714	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggtcccggggcactcActggggcccgtggacgccag	4	5	15	17	4	1	0	1	0	0	0	3	1	3	1	4	6	0	1	4	6	0	0			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:20784714A>C	uc002zsj.2	-	6	1307	c.1202_splice	c.e6+1	p.H401_splice	SCARF2_uc002zsk.2_Splice_Site_p.H401_splice	NM_153334	NP_699165	Q96GP6	SREC2_HUMAN	Homo sapiens scavenger receptor class F, member 2 (SCARF2), transcript variant 1, mRNA.	401	EGF-like 7.				cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CGGGGCACTCACTGGGGCCCG	0.711													C	20784714	A	C	20784714	5	2	24	1	0	0	0	0	0	0	1	0	13976	173	6	5	1432	5	SCARF2	22	20784714	Splice_Site	SNP	A	TCGA-06-0152-01A-02W-0323-08		20784714	30519852	75	1523											
CACNA1I	8911	broad.mit.edu	37	chr22	40078576	40078576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttgtcctctacggccGtctcgccggatccagagaac	6	9	9	17	4	2	1	0	0	2	1	6	3	5	2	6	2	2	0	6	2	2	2			TCGA-06-0152-01A-02W-0323-08	TCGA-06-0152-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79062efd-2b09-4798-a504-0a18ca30ef2d	eb4aaeef-72d7-4da6-96d9-7504521a99f1	g.chr22:40078576G>A	uc003ayc.3	+	34	5740	c.5740G>A	c.(5740-5742)Gtc>Atc	p.V1914I	CACNA1I_uc003ayd.3_Missense_Mutation_p.V1879I|CACNA1I_uc003aye.3_Missense_Mutation_p.V1829I|CACNA1I_uc003ayf.3_Missense_Mutation_p.V1794I	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1914					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CTCTACGGCCGTCTCGCCGGA	0.592													A	40078576	G	A	40078576	3	1	24	1	0	0	0	0	1	0	0	0	2572	1145	40	1	5878	1	CACNA1I	22	40078576	Missense_Mutation	SNP	G	TCGA-06-0152-01A-02W-0323-08	19293862	40078576	11225990	76	1524											
CLCNKA	1187	broad.mit.edu	37	chr1	16355293	16355293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggccaccttgcttctcGcctccatcacctacccgcct	4	11	5	21	2	3	0	1	0	2	0	5	0	4	0	7	1	2	1	7	1	1	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:16355293G>A	uc001axu.3	+	10	1086	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CLCNKA_uc001axt.3_Non-coding_Transcript|CLCNKA_uc010obw.2_Missense_Mutation_p.A293T|CLCNKA_uc001axv.3_Missense_Mutation_p.A336T|CLCNKA_uc010obx.1_5'UTR|CLCNKA_uc010oby.1_Missense_Mutation_p.R65H|CLCNKA_uc021ogl.1_5'Flank	NM_004070	NP_004061	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Ka (CLCNKA), transcript variant 1, mRNA.	336					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTTGCTTCTCGCCTCCATCAC	0.632													A	16355293	G	A	16355293	3	1	25	1	0	0	0	0	1	0	0	0	3500	1087	38	1	1044	1	CLCNKA	1	16355293	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		16355293	232895328	1	1525											
LRRC7	57554	broad.mit.edu	37	chr1	70503971	70503971	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggtttgttgctgaggaaAccacagccgagaatgccaac	12	7	12	10	1	0	2	0	1	0	1	0	4	0	3	3	2	5	3	3	2	3	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:70503971A>G	uc001dep.3	+	18	2380	c.2350A>G	c.(2350-2352)Acc>Gcc	p.T784A	LRRC7_uc009wbg.3_Missense_Mutation_p.T68A|LRRC7_uc001deq.3_Missense_Mutation_p.T25A	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	784						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGCTGAGGAAACCACAGCCGA	0.488													G	70503971	A	G	70503971	3	3	25	1	0	0	0	0	1	0	0	0	9090	43	2	3	2424	3	LRRC7	1	70503971	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08	54148678	70503971	178746650	2	1526											
MCOLN3	55283	broad.mit.edu	37	chr1	85499910	85499910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcataagcatgattcccaaCggagacattgtatagctgca	13	10	8	10	1	1	2	1	1	0	1	2	3	2	2	1	1	4	4	1	1	4	5	rs144793042	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:85499910C>T	uc001dkp.3	-	3	568	c.421G>A	c.(421-423)Gtt>Att	p.V141I	MCOLN3_uc001dkq.3_Missense_Mutation_p.V85I|MCOLN3_uc001dkr.3_Missense_Mutation_p.V141I|MCOLN3_uc001dks.4_5'UTR	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	141						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGATTCCCAACGGAGACATTG	0.468													T	85499910	C	T	85499910	3	4	25	1	0	0	0	0	1	0	0	0	9472	536	19	1	1280	1	MCOLN3	1	85499910	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	14995939	85499910	163750711	3	1527											
RPL5	6125	broad.mit.edu	37	chr1	93301746	93301746	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacattggtttcttgaataGcttctcaataggtttggcat	9	18	8	6	0	2	1	1	1	2	0	3	1	2	1	0	3	2	4	0	3	5	8			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:93301746G>C	uc001doz.3	+	5	403	c.325_splice	c.e5-1	p.L109_splice	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Intron|RPL5_uc001dpb.3_Splice_Site_p.L59_splice|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	109					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTCTTGAATAGCTTCTCAATA	0.398													C	93301746	G	C	93301746	5	2	25	1	0	0	0	0	0	0	1	0	13688	985	34	4	342	4	RPL5	1	93301746	Splice_Site	SNP	G	TCGA-06-0154-01A-03D-1491-08	7801836	93301746	155948875	4	1528											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530514	150530514	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggaatttggggggggTggctcctcggtgcccccgga	4	7	19	11	3	0	0	0	0	0	0	2	2	1	2	3	9	1	2	3	9	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:150530514T>G	uc009wlw.3	+	13	2498	c.2340T>G	c.(2338-2340)ggT>ggG	p.G780G	ADAMTSL4_uc001euw.3_Silent_p.G757G|ADAMTSL4_uc001eux.3_Silent_p.G757G|ADAMTSL4_uc010pcg.2_Silent_p.G718G|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	757	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TTGGGGGGGGTGGCTCCTCGG	0.692													G	150530514	T	G	150530514	2	3	25	1	0	0	0	0	0	0	0	1	277	1683	59	5		5	ADAMTSL4	1	150530514	Silent	SNP	T	TCGA-06-0154-01A-03D-1491-08	57228768	150530514	98720107	5	1529											
FLG	2312	broad.mit.edu	37	chr1	152283083	152283083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccctgactggccacgtgCggactctttgtggctctgct	3	13	11	14	2	2	1	0	1	2	0	3	2	3	2	3	3	2	2	3	3	0	2	rs148844389	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:152283083C>T	uc001ezu.1	-	2	4315	c.4279G>A	c.(4279-4281)Gca>Aca	p.A1427T	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1427	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCACGTGCGGACTCTTTG	0.557									Ichthyosis				T	152283083	C	T	152283083	3	4	25	1	0	0	0	0	1	0	0	0	5971	768	27	1	7910	1	FLG	1	152283083	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	1752569	152283083	96967538	6	1530											
F5	2153	broad.mit.edu	37	chr1	169510563	169510563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttctggagagaggtttgtCtggctgaggtctaaagaaag	11	11	15	4	0	3	3	0	1	3	2	3	5	3	4	0	4	0	3	0	4	3	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:169510563C>G	uc001ggg.1	-	12	3910	c.3765G>C	c.(3763-3765)caG>caC	p.Q1255H		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1255	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGAGGTTTGTCTGGCTGAGGT	0.522													G	169510563	C	G	169510563	3	3	25	1	0	0	0	0	1	0	0	0	5390	912	32	4	2961	4	F5	1	169510563	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	17227480	169510563	79740058	7	1531											
OBSCN	84033	broad.mit.edu	37	chr1	228467603	228467603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtcctgcgacttccGgccagcccccaaggctgtgc	4	8	12	17	2	0	0	0	0	0	0	3	1	3	0	6	3	3	1	6	3	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:228467603G>A	uc009xez.1	+	27	7522	c.7478G>A	c.(7477-7479)cGg>cAg	p.R2493Q	OBSCN_uc001hsn.3_Missense_Mutation_p.R2493Q|OBSCN_uc001hsp.1_Missense_Mutation_p.R192Q|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2493	Ig-like 24.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R2493L(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGACTTCCGGCCAGCCCCC	0.622													A	228467603	G	A	228467603	3	1	25	1	0	0	0	0	1	0	0	0	10888	1116	39	1	7584	1	OBSCN	1	228467603	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	58957040	228467603	20783018	8	1532											
RYR2	6262	broad.mit.edu	37	chr1	237924281	237924281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctaaatgcatttgagcGacaaaacaaagctgaaggtc	16	8	9	8	1	0	3	0	3	0	0	1	4	0	3	1	1	4	2	1	1	6	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr1:237924281G>A	uc001hyl.1	+	83	11549	c.11429G>A	c.(11428-11430)cGa>cAa	p.R3810Q	RYR2_uc010pya.2_Missense_Mutation_p.R225Q	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3810					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCATTTGAGCGACAAAACAAA	0.393													A	237924281	G	A	237924281	3	1	25	1	0	0	0	0	1	0	0	0	13860	1058	37	1	11763	1	RYR2	1	237924281	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	9456678	237924281	11326340	9	1533											
SCN7A	6332	broad.mit.edu	37	chr2	167327191	167327191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaagcgttggaatgaagtCcagaggtgagtatcttataa	13	12	12	4	1	1	4	0	3	1	1	2	5	2	5	1	2	1	2	1	2	6	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr2:167327191C>A	uc002udu.2	-	5	728	c.598G>T	c.(598-600)Gac>Tac	p.D200Y	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	200					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						GGAATGAAGTCCAGAGGTGAG	0.294													A	167327191	C	A	167327191	3	1	25	1	0	0	0	0	1	0	0	0	14016	855	30	4	4530	4	SCN7A	2	167327191	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		167327191	75872182	10	1534											
RBMS3	27303	broad.mit.edu	37	chr3	29938905	29938905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacagtattgcaaccaaccGcatgattccacagacatcta	14	9	6	12	1	1	2	0	1	1	1	2	2	2	2	3	0	4	4	3	0	5	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:29938905G>A	uc003cel.3	+	8	1197	c.827G>A	c.(826-828)cGc>cAc	p.R276H	RBMS3_uc010hfq.3_Missense_Mutation_p.R289H|RBMS3_uc003cek.3_Missense_Mutation_p.R276H|RBMS3_uc010hfr.3_Missense_Mutation_p.R276H|RBMS3_uc003cem.3_Missense_Mutation_p.R275H	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	276						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCAACCAACCGCATGATTCCA	0.433													A	29938905	G	A	29938905	3	1	25	1	0	0	0	0	1	0	0	0	13238	1087	38	1	904	1	RBMS3	3	29938905	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		29938905	168083525	11	1535											
DNAH1	25981	broad.mit.edu	37	chr3	52422625	52422625	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgggccgagctggcaaGgtgcgcaccctcctcctgca	5	6	14	16	3	0	0	0	0	0	0	2	1	2	0	4	4	3	5	4	4	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:52422625G>A	uc011bef.2	+	58	9624	c.9363_splice	c.e58+1	p.K3121_splice	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3121					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)		GAGCTGGCAAGGTGCGCACCC	0.657													A	52422625	G	A	52422625	2	1	25	1	0	0	0	0	0	0	0	1	4636	1014	35	2		2	DNAH1	3	52422625	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	22483720	52422625	145599805	12	1536											
FETUB	26998	broad.mit.edu	37	chr3	186362610	186362610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccactgactcttccaatcaCcaagtgctggaggctgccac	9	8	8	16	0	2	1	1	1	1	0	3	2	3	2	4	2	2	2	4	2	2	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr3:186362610C>A	uc010hyq.3	+	4	756	c.495C>A	c.(493-495)caC>caA	p.H165Q	FETUB_uc011brz.2_Missense_Mutation_p.H17Q|FETUB_uc003fqn.3_Missense_Mutation_p.H165Q|FETUB_uc010hyr.3_Missense_Mutation_p.H128Q|FETUB_uc010hys.3_Missense_Mutation_p.H17Q|FETUB_uc003fqp.4_Missense_Mutation_p.H100Q	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	165	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		CTTCCAATCACCAAGTGCTGG	0.443													A	186362610	C	A	186362610	3	1	25	1	0	0	0	0	1	0	0	0	5870	506	18	4	509	4	FETUB	3	186362610	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	133939985	186362610	11659820	13	1537											
GABRA4	2557	broad.mit.edu	37	chr4	46973176	46973176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcactgtcataatgcaCggaatataggtctgaatcat	15	11	8	7	1	4	2	3	1	1	1	4	3	4	3	0	2	1	1	0	2	6	3	rs147092196		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:46973176C>T	uc003gxg.3	-	6	1781	c.798G>A	c.(796-798)ccG>ccA	p.P266P	GABRA4_uc021xnz.1_Silent_p.P247P|GABRA4_uc021xoa.1_Intron	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	266					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATAATGCACGGAATATAGG	0.368													T	46973176	C	T	46973176	2	4	25	1	0	0	0	0	0	0	0	1	6215	523	19	1		1	GABRA4	4	46973176	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08		46973176	144181100	14	1538											
UGT2B7	7364	broad.mit.edu	37	chr4	69962448	69962448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatcccaacaactcatcCgctcttaaaattgaaattta	14	14	3	10	1	2	2	1	2	1	0	4	2	4	2	2	0	2	1	2	0	6	5	rs151180306		TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:69962448C>T	uc003heg.4	+	0	256	c.210C>T	c.(208-210)tcC>tcT	p.S70S	UGT2B7_uc010ihq.3_Silent_p.S70S	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	70					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S70S(2)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACAACTCATCCGCTCTTAAAA	0.373													T	69962448	C	T	69962448	2	4	25	1	0	0	0	0	0	0	0	1	17064	639	23	1		1	UGT2B7	4	69962448	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	22989272	69962448	121191828	15	1539											
GLRA3	8001	broad.mit.edu	37	chr4	175598335	175598335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccatgttgatccagaatGaaacccaggatagaataaca	17	8	7	9	0	0	4	0	2	0	2	2	5	2	5	3	1	2	1	3	1	5	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr4:175598335G>A	uc003ity.1	-	6	1324	c.821C>T	c.(820-822)tCa>tTa	p.S274L	GLRA3_uc003itz.1_Missense_Mutation_p.S274L	NM_006529	NP_006520	O75311	GLRA3_HUMAN	Homo sapiens glycine receptor, alpha 3 (GLRA3), transcript variant 1, mRNA.	274					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GATCCAGAATGAAACCCAGGA	0.478													A	175598335	G	A	175598335	3	1	25	1	0	0	0	0	1	0	0	0	6512	1294	45	2	589	2	GLRA3	4	175598335	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	105635887	175598335	15555941	16	1540											
PRDM9	56979	broad.mit.edu	37	chr5	23526914	23526914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcattcaccagaggAtacacacaggggagaagccc	13	5	9	14	0	2	2	2	0	0	2	3	4	3	3	4	3	2	0	4	3	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:23526914A>T	uc003jgo.3	+	10	1899	c.1717A>T	c.(1717-1719)Ata>Tta	p.I573L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	573					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCACCAGAGGATACACACAGG	0.562										HNSCC(3;0.000094)			T	23526914	A	T	23526914	3	4	25	1	0	0	0	0	1	0	0	0	12549	333	12	5	1755	5	PRDM9	5	23526914	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		23526914	157388346	17	1541											
AP3S1	1176	broad.mit.edu	37	chr5	115249179	115249179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgccaaacctgccctctTttaaataaaaatgtaaaaag	18	10	5	8	0	1	0	0	0	1	0	1	0	1	0	3	0	3	1	3	0	10	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:115249179T>C	uc003krl.3	+	5	690	c.574T>C	c.(574-576)Ttt>Ctt	p.F192L	AP3S1_uc003krk.3_Missense_Mutation_p.F170L	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	192					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		CCTGCCCTCTTTTAAATAAAA	0.393													C	115249179	T	C	115249179	3	2	25	1	0	0	0	0	1	0	0	0	751	1841	64	3	596	3	AP3S1	5	115249179	Missense_Mutation	SNP	T	TCGA-06-0154-01A-03D-1491-08	91722265	115249179	65666081	18	1542											
PCDHAC2	56136	broad.mit.edu	37	chr5	140263908	140263908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagggcgtcggcaggCgctgtgggtccagaagcggc	5	6	19	11	6	0	1	0	0	0	1	4	2	1	1	1	5	1	2	1	5	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140263908C>T	uc003lif.2	+	0	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	698	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632													T	140263908	C	T	140263908	2	4	25	1	0	0	0	0	0	0	0	1	11609	755	27	1		1	PCDHAC2	5	140263908	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	25014729	140263908	40651352	19	1543											
PCDHB12	56124	broad.mit.edu	37	chr5	140590224	140590224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccctgggcggccgagcCgggctacctggtgaccaagg	5	5	18	13	3	0	1	0	1	0	0	0	2	0	1	5	6	3	1	5	6	2	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140590224C>T	uc003liz.3	+	0	1934	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L	PCDHB12_uc011dak.2_Missense_Mutation_p.P245L	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	582	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGGCCGAGCCGGGCTACCTG	0.692													T	140590224	C	T	140590224	3	4	25	1	0	0	0	0	1	0	0	0	11613	652	23	1	1747	1	PCDHB12	5	140590224	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	326316	140590224	40325036	20	1544											
PCDHGC5	56110	broad.mit.edu	37	chr5	140745008	140745008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatcgcgctgtttagcGtacatgatggtgattctgga	8	14	12	7	3	1	2	0	2	1	0	2	3	1	3	0	2	2	4	0	2	3	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:140745008G>A	uc003lju.2	+	0	1111	c.1111G>A	c.(1111-1113)Gta>Ata	p.V371I	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc011das.2_Missense_Mutation_p.V371I	NM_018918	NP_061741	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 5 (PCDHGA5), transcript variant 1, mRNA.	374	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGTTTAGCGTACATGATGG	0.443													A	140745008	G	A	140745008	3	1	25	1	0	0	0	0	1	0	0	0	11647	1145	40	1		1	PCDHGC5	5	140745008	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	154784	140745008	40170252	21	1545											
DOCK2	1794	broad.mit.edu	37	chr5	169503081	169503081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaaggagtacggtgtccGagagatggtatgggtggttc	9	9	19	4	2	0	2	0	0	0	2	2	6	1	3	1	6	1	3	1	6	3	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr5:169503081G>A	uc003maf.3	+	46	4939	c.4859G>A	c.(4858-4860)cGa>cAa	p.R1620Q	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.R1112Q|DOCK2_uc003mah.3_Missense_Mutation_p.R176Q	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1620	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACGGTGTCCGAGAGATGGTA	0.532													A	169503081	G	A	169503081	3	1	25	1	0	0	0	0	1	0	0	0	4726	1058	37	1	5045	1	DOCK2	5	169503081	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	28758073	169503081	11412179	22	1546											
AGPAT1	10554	broad.mit.edu	37	chr6	32138354	32138354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaatgggcacacagcGgcctggcagtacctccatca	9	7	11	14	1	1	0	1	0	0	0	2	0	2	0	3	4	2	4	3	4	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:32138354G>A	uc003oae.3	-	3	693	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Missense_Mutation_p.R84C|AGPAT1_uc003oag.3_Intron|AGPAT1_uc003oah.3_Missense_Mutation_p.R120C|AGPAT1_uc003oai.1_Missense_Mutation_p.R120C|AGPAT1_uc011dpl.2_Missense_Mutation_p.R8C	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	120					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						GGCACACAGCGGCCTGGCAGT	0.652													A	32138354	G	A	32138354	3	1	25	1	0	0	0	0	1	0	0	0	386	1116	39	1	509	1	AGPAT1	6	32138354	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		32138354	138976713	23	1547											
SPDEF	25803	broad.mit.edu	37	chr6	34508955	34508955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctggggctccagtccatgGgatctgggcaagaggcatcc	7	8	15	11	0	1	1	0	0	1	1	4	2	4	2	3	5	1	4	3	5	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:34508955G>C	uc003ojq.2	-	2	874	c.440C>G	c.(439-441)cCc>cGc	p.P147R	SPDEF_uc011dsq.2_Missense_Mutation_p.P147R	NM_012391	NP_036523	O95238	SPDEF_HUMAN	Homo sapiens SAM pointed domain containing ets transcription factor (SPDEF), transcript variant 1, mRNA.	147	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P147R(2)		central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CCAGTCCATGGGATCTGGGCA	0.647													C	34508955	G	C	34508955	3	2	25	1	0	0	0	0	1	0	0	0	15122	1232	43	4	583	4	SPDEF	6	34508955	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	2370601	34508955	136606112	24	1548											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604709	62604709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacacctcgtccaggtggtGggggaggaggaatggcaccc	9	5	17	10	1	0	0	0	0	0	0	2	4	1	3	3	7	1	1	3	7	2	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:62604709G>A	uc003peg.2	-	5	888	c.641C>T	c.(640-642)cCa>cTa	p.P214L		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	214	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TCCAGGTGGTGGGGGAGGAGG	0.557													A	62604709	G	A	62604709	3	1	25	1	0	0	0	0	1	0	0	0	8205	1348	47	2	424	2	KHDRBS2	6	62604709	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	28095754	62604709	108510358	25	1549											
ANKRD6	22881	broad.mit.edu	37	chr6	90337365	90337365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggacggagtgcctgaacCgcctgcaacagcactcagac	12	4	12	13	2	1	3	1	1	0	2	1	5	1	5	3	2	5	2	3	2	2	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:90337365C>T	uc003pni.4	+	13	1776	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	ANKRD6_uc003pne.4_Missense_Mutation_p.R479C|ANKRD6_uc003pnf.4_Missense_Mutation_p.R444C|ANKRD6_uc011dzy.2_Missense_Mutation_p.R479C|ANKRD6_uc010kcd.3_Missense_Mutation_p.R420C|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_Missense_Mutation_p.R75C	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	479							protein binding	p.R479C(4)		NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GTGCCTGAACCGCCTGCAACA	0.512													T	90337365	C	T	90337365	3	4	25	1	0	0	0	0	1	0	0	0	685	652	23	1	1485	1	ANKRD6	6	90337365	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	27732656	90337365	80777702	26	1550											
KIAA1244	57221	broad.mit.edu	37	chr6	138531166	138531166	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacgaggacctgcaggtGgaagtgatgaaggttggttt	10	10	15	6	1	1	2	1	2	0	0	1	5	1	4	1	5	2	3	1	5	3	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138531166G>T	uc003qhu.3	+	3	510	c.339G>T	c.(337-339)gtG>gtT	p.V113V		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	113					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		ACCTGCAGGTGGAAGTGATGA	0.502													T	138531166	G	T	138531166	2	4	25	1	0	0	0	0	0	0	0	1	8275	1335	47	4		4	KIAA1244	6	138531166	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	48193801	138531166	32583901	27	1551											
KIAA1244	57221	broad.mit.edu	37	chr6	138657552	138657552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgacctgtcacgtgaccGacatcagagttcgccaggct	9	8	11	13	3	2	3	2	2	0	1	3	4	2	3	3	1	1	3	3	1	0	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:138657552G>A	uc003qhu.3	+	33	6634	c.6463G>A	c.(6463-6465)Gac>Aac	p.D2155N		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	2155					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TCACGTGACCGACATCAGAGT	0.562													A	138657552	G	A	138657552	3	1	25	1	0	0	0	0	1	0	0	0	8275	1058	37	1	6597	1	KIAA1244	6	138657552	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	126386	138657552	32457515	28	1552											
PLG	5340	broad.mit.edu	37	chr6	161139731	161139731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttctttttcagaaatttGgatgaaaactactgccgcaa	13	13	6	9	1	2	2	1	1	1	1	2	3	2	3	1	1	3	1	1	1	5	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr6:161139731G>A	uc003qtm.4	+	8	1069	c.957G>A	c.(955-957)ttG>ttA	p.L319L		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	319	Kringle 3.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCAGAAATTTGGATGAAAACT	0.453													A	161139731	G	A	161139731	2	1	25	1	0	0	0	0	0	0	0	1	12163	1339	47	2		2	PLG	6	161139731	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	22482179	161139731	9975336	29	1553											
GHRHR	2692	broad.mit.edu	37	chr7	31016046	31016046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtctttcctgcaggcGtctctccaagtcgacacttt	6	15	8	12	2	2	0	0	0	2	0	6	2	4	0	2	1	1	1	2	1	1	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:31016046G>A	uc003tbx.3	+	10	1025	c.977G>A	c.(976-978)cGt>cAt	p.R326H	GHRHR_uc003tby.3_Missense_Mutation_p.R262H|GHRHR_uc003tbz.3_Silent_p.A92A	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	326					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCCTGCAGGCGTCTCTCCAAG	0.512													A	31016046	G	A	31016046	3	1	25	1	0	0	0	0	1	0	0	0	6429	1145	40	1	1059	1	GHRHR	7	31016046	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		31016046	128122617	30	1554											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	25	1	0	0	0	0	1	0	0	0	5006	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	24204228	55220274	103918389	31	1555											
WBSCR28	135886	broad.mit.edu	37	chr7	73280082	73280082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcacacgacccagctggCcgaggcccaggaggttgaac	10	4	14	13	2	0	2	0	2	0	0	0	5	0	3	3	4	3	3	3	4	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:73280082C>T	uc003tzk.2	+	2	713	c.677C>T	c.(676-678)gCc>gTc	p.A226V	WBSCR28_uc003tzl.2_Missense_Mutation_p.A125V	NM_182504	NP_872310	Q6UE05	WBS28_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 28 (WBSCR28), mRNA.	226						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				ACCCAGCTGGCCGAGGCCCAG	0.627													T	73280082	C	T	73280082	3	4	25	1	0	0	0	0	1	0	0	0	17369	739	26	2	687	2	WBSCR28	7	73280082	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	18059808	73280082	85858581	32	1556											
ASNS	440	broad.mit.edu	37	chr7	97484694	97484694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatatgtaaccctgcgtaaGttcatctgatccttctccag	10	14	6	11	1	3	1	1	1	2	0	5	1	4	1	3	0	2	3	3	0	4	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:97484694G>A	uc003uot.4	-	8	1614	c.1108C>T	c.(1108-1110)Ctt>Ttt	p.L370F	ASNS_uc011kin.2_Missense_Mutation_p.L287F|ASNS_uc011kio.2_Missense_Mutation_p.L349F|ASNS_uc003uou.4_Missense_Mutation_p.L370F|ASNS_uc003uov.4_Missense_Mutation_p.L370F|ASNS_uc003uox.4_Missense_Mutation_p.L287F	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	370	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCCTGCGTAAGTTCATCTGAT	0.338													A	97484694	G	A	97484694	3	1	25	1	0	0	0	0	1	0	0	0	1053	1029	36	2	597	2	ASNS	7	97484694	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	24204612	97484694	61653969	33	1557											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997332	146997332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgaagcatcagcagttcGaactaatagtccccttcaag	14	9	8	10	1	2	2	2	1	0	1	4	3	3	2	2	0	3	3	2	0	5	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr7:146997332G>A	uc003weu.2	+	8	1964	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	483	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCAGCAGTTCGAACTAATAGT	0.423										HNSCC(39;0.1)			A	146997332	G	A	146997332	3	1	25	1	0	0	0	0	1	0	0	0	3678	1058	37	1	1482	1	CNTNAP2	7	146997332	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	49512638	146997332	12141331	34	1558											
PTPRD	5789	broad.mit.edu	37	chr9	8633320	8633320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacttgagcacttaccccGcaaaactgtgagtctggtgg	9	11	10	11	1	2	2	1	2	1	0	2	2	2	2	2	2	3	2	2	2	3	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:8633320G>A	uc003zkk.3	-	13	1092	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PTPRD_uc003zkp.3_Missense_Mutation_p.R117W|PTPRD_uc003zkq.3_Missense_Mutation_p.R117W|PTPRD_uc003zkr.3_Missense_Mutation_p.R117W|PTPRD_uc003zks.3_Missense_Mutation_p.R117W|PTPRD_uc022bdj.1_Missense_Mutation_p.R117W|PTPRD_uc003zkt.1_Missense_Mutation_p.R117W	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	117					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CACTTACCCCGCAAAACTGTG	0.418										TSP Lung(15;0.13)			A	8633320	G	A	8633320	3	1	25	1	0	0	0	0	1	0	0	0	12887	1086	38	1	5589	1	PTPRD	9	8633320	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		8633320	132580111	35	1559											
NXNL2	158046	broad.mit.edu	37	chr9	91150637	91150637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcgctgcccttccaCgacccctaccggcagtgagt	5	8	12	16	3	0	1	0	1	0	0	1	2	1	1	5	3	2	3	5	3	1	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:91150637C>T	uc011ltj.2	+	0	622	c.288C>T	c.(286-288)caC>caT	p.H96H	NXNL2_uc004aqa.3_Silent_p.H96H	NM_001161625	NP_001155097	Q5VZ03	NXNL2_HUMAN	Homo sapiens nucleoredoxin-like 2 (NXNL2), transcript variant 1, mRNA.	96	Thioredoxin.									lung(3)	3						TGCCCTTCCACGACCCCTACC	0.711													T	91150637	C	T	91150637	2	4	25	1	0	0	0	0	0	0	0	1	10865	535	19	1		1	NXNL2	9	91150637	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	82517317	91150637	50062794	36	1560											
CERCAM	51148	broad.mit.edu	37	chr9	131185156	131185156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccccaggtgtgccacGgaccacaatgtggacaacac	10	5	10	16	2	0	0	0	0	0	0	1	2	1	2	5	3	2	0	5	3	2	0	rs147490658	by1000genomes	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr9:131185156G>A	uc004buz.4	+	1	605	c.207G>A	c.(205-207)acG>acA	p.T69T	CERCAM_uc004buy.1_5'UTR|CERCAM_uc010mxz.3_5'UTR|CERCAM_uc010mya.1_5'Flank	NM_016174	NP_057258	Q5T4B2	GT253_HUMAN	Homo sapiens cerebral endothelial cell adhesion molecule (CERCAM), mRNA.	69					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GGTGTGCCACGGACCACAATG	0.602													A	131185156	G	A	131185156	2	1	25	1	0	0	0	0	0	0	0	1	3296	1103	39	1		1	CERCAM	9	131185156	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	40034519	131185156	10028275	37	1561											
ARHGAP21	57584	broad.mit.edu	37	chr10	24889768	24889768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcctcagacggagtcGtctgctctcttttatctttg	4	17	8	12	2	5	1	1	0	4	1	8	2	6	2	1	1	1	2	1	1	1	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:24889768G>C	uc001isb.2	-	13	3426	c.2939C>G	c.(2938-2940)aCg>aGg	p.T980R	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.T980R|ARHGAP21_uc010qdc.1_Missense_Mutation_p.T815R	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	979	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						AGACGGAGTCGTCTGCTCTCT	0.453													C	24889768	G	C	24889768	3	2	25	1	0	0	0	0	1	0	0	0	874	1145	40	4	2989	4	ARHGAP21	10	24889768	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		24889768	110644979	38	1562											
APBB1IP	54518	broad.mit.edu	37	chr10	26825105	26825105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcgctattttcttttaCgggcttctggaatttattat	9	18	8	6	2	2	0	0	0	2	0	2	1	2	1	0	3	1	2	0	3	6	9			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:26825105C>T	uc001iss.3	+	9	1324	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	APBB1IP_uc009xks.1_Missense_Mutation_p.R335W	NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	335	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium		p.R335W(2)|p.R335L(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTTCTTTTACGGGCTTCTGG	0.338													T	26825105	C	T	26825105	3	4	25	1	0	0	0	0	1	0	0	0	762	527	19	1	1033	1	APBB1IP	10	26825105	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	1935337	26825105	108709642	39	1563											
ANK3	288	broad.mit.edu	37	chr10	61829891	61829891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttggcgttctggctggcGttgtatcaggggttgttgct	3	15	16	7	2	2	0	1	0	1	0	2	0	2	0	0	5	1	8	0	5	1	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr10:61829891G>A	uc001jky.3	-	36	11086	c.10748C>T	c.(10747-10749)aCg>aTg	p.T3583M	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	3583					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	p.T3583M(2)|p.T3583T(1)		NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCTGGCTGGCGTTGTATCAGG	0.488													A	61829891	G	A	61829891	3	1	25	1	0	0	0	0	1	0	0	0	622	1145	40	1	2726	1	ANK3	10	61829891	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	35004786	61829891	73704856	40	1564											
OR5M3	219482	broad.mit.edu	37	chr11	56237372	56237372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatatgtgaagttaatgccgGcaagtatgatcattgtatat	14	14	9	4	1	1	2	1	2	0	0	1	2	1	2	1	1	1	4	1	1	8	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56237372G>A	uc010rjk.2	-	0	643	c.602C>T	c.(601-603)gCc>gTc	p.A201V	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	201					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					GTTAATGCCGGCAAGTATGAT	0.413													A	56237372	G	A	56237372	3	1	25	1	0	0	0	0	1	0	0	0	11251	1203	42	2	323	2	OR5M3	11	56237372	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		56237372	78769144	41	1565											
OR9G4	283189	broad.mit.edu	37	chr11	56510792	56510792	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggcattcaaaaatcctcCtatgtaggagccagcaacaa	15	9	7	10	0	1	0	1	0	0	0	3	1	3	1	3	2	3	3	3	2	7	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:56510792C>A	uc010rjo.2	-	0	496	c.496G>T	c.(496-498)Gga>Tga	p.G166*		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I165T(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AAAAATCCTCCTATGTAGGAG	0.453													A	56510792	C	A	56510792	4	1	25	1	0	0	0	0	0	1	0	0	11327	690	24	4	490	4	OR9G4	11	56510792	Nonsense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	273420	56510792	78495724	42	1566											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62490074	62490074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactttcaggagcacttacaGcaaagcagccaataacatca	17	7	6	11	0	2	0	2	0	0	0	2	1	2	1	1	1	7	3	1	1	5	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:62490074G>A	uc001nuw.3	-	6	1324	c.1095_splice	c.e6+1	p.A365_splice	HNRNPUL2_uc001nuu.2_Splice_Site	NM_001079559	NP_001073027	Q1KMD3	HNRL2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U-like 2 (HNRNPUL2), mRNA.	365	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGCACTTACAGCAAAGCAGCC	0.458													A	62490074	G	A	62490074	3	1	25	1	0	0	0	0	1	0	0	0	7330	985	34	2	1185	2	HNRNPUL2	11	62490074	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	5979282	62490074	72516442	43	1567											
KLC2	64837	broad.mit.edu	37	chr11	66033175	66033175	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggccctataccggcgcCagggcaagctggaagccgcg	7	4	17	13	4	0	0	0	0	0	0	0	1	0	1	4	5	3	2	4	5	4	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:66033175C>T	uc010rov.1	+	11	1627	c.1384C>T	c.(1384-1386)Cag>Tag	p.Q462*	KLC2_uc010row.1_Nonsense_Mutation_p.Q462*|KLC2_uc001ohb.2_Nonsense_Mutation_p.Q462*|KLC2_uc010rox.1_Nonsense_Mutation_p.Q385*|KLC2_uc001ohc.2_Nonsense_Mutation_p.Q462*|KLC2_uc001ohd.2_Nonsense_Mutation_p.Q385*|KLC2_uc001ohe.1_Nonsense_Mutation_p.Q323*|RAB1B_uc001ohf.3_5'Flank	NM_001134775	NP_073733	Q9H0B6	KLC2_HUMAN	Homo sapiens kinesin light chain 2 (KLC2), transcript variant 3, mRNA.	462					blood coagulation	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ATACCGGCGCCAGGGCAAGCT	0.647													T	66033175	C	T	66033175	4	4	25	1	0	0	0	0	0	1	0	0	8392	595	21	2	1426	2	KLC2	11	66033175	Nonsense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	3543101	66033175	68973341	44	1568											
CHORDC1	26973	broad.mit.edu	37	chr11	89951306	89951306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatatagttcctaccttTaatgcatcgtgaaagaccgg	14	11	8	8	2	0	2	0	1	0	1	2	3	1	2	3	1	2	2	3	1	7	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr11:89951306T>C	uc001pdg.2	-	1	521	c.111A>G	c.(109-111)ttA>ttG	p.L37L	CHORDC1_uc009yvz.2_Silent_p.L37L	NM_012124	NP_036256	Q9UHD1	CHRD1_HUMAN	Homo sapiens cysteine and histidine-rich domain (CHORD) containing 1 (CHORDC1), transcript variant 1, mRNA.	37	CHORD 1.|Interaction with PPP5C (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				TTCCTACCTTTAATGCATCGT	0.313													C	89951306	T	C	89951306	2	2	25	1	0	0	0	0	0	0	0	1	3395	1751	61	3		3	CHORDC1	11	89951306	Silent	SNP	T	TCGA-06-0154-01A-03D-1491-08	23918131	89951306	45055210	45	1569											
KLRK1	22914	broad.mit.edu	37	chr12	10525755	10525755	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtacgtatttggagttgaAcagttttctatatagccttt	10	18	8	5	1	1	1	0	1	1	0	1	2	1	2	1	1	3	4	1	1	6	10			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:10525755A>G	uc009zhj.3	-	7	786	c.609T>C	c.(607-609)tgT>tgC	p.C203C	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Silent_p.C203C|KLRK1_uc009zhk.3_Silent_p.C203C|KLRK1_uc001qyd.3_Silent_p.C203C	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	203	C-type lectin.				natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTGGAGTTGAACAGTTTTCTA	0.388													G	10525755	A	G	10525755	2	3	25	1	0	0	0	0	0	0	0	1	8481	41	2	3		3	KLRK1	12	10525755	Silent	SNP	A	TCGA-06-0154-01A-03D-1491-08		10525755	123326140	46	1570											
PIK3C2G	5288	broad.mit.edu	37	chr12	18552608	18552608	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagactctctgaagaaaaGaaaagatatttatggtttta	16	14	7	4	0	2	5	1	1	1	4	3	5	2	5	0	1	0	1	0	1	8	6			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:18552608G>C	uc001rdt.3	+	14	2135	c.2019G>C	c.(2017-2019)aaG>aaC	p.K673N	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.K714N|PIK3C2G_uc010sic.2_Missense_Mutation_p.K492N	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	673					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CTGAAGAAAAGAAAAGATATT	0.378													C	18552608	G	C	18552608	3	2	25	1	0	0	0	0	1	0	0	0	11988	933	33	4	2073	4	PIK3C2G	12	18552608	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	8026853	18552608	115299287	47	1571											
OR6C74	254783	broad.mit.edu	37	chr12	55641790	55641790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaagcattttctacatgttCttcccacatggtggtcgtgt	9	15	8	9	1	2	0	0	0	2	0	4	0	3	0	1	2	2	2	1	2	3	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:55641790C>T	uc010spg.2	+	0	719	c.719C>T	c.(718-720)tCt>tTt	p.S240F		NM_001005490	NP_001005490	A6NCV1	O6C74_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 74 (OR6C74), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						TCTACATGTTCTTCCCACATG	0.373													T	55641790	C	T	55641790	3	4	25	1	0	0	0	0	1	0	0	0	11274	913	32	2	721	2	OR6C74	12	55641790	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	37089182	55641790	78210105	48	1572											
LRP1	4035	broad.mit.edu	37	chr12	57569290	57569290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagccacaactgctcagtgGcacctggcgaaggcattgtg	9	7	13	12	1	1	0	1	0	0	0	1	1	1	0	2	3	3	4	2	3	2	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:57569290G>C	uc001snd.3	+	22	4061	c.3595G>C	c.(3595-3597)Gca>Cca	p.A1199P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1199	EGF-like 5.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGCTCAGTGGCACCTGGCGA	0.602											OREG0021937	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	57569290	G	C	57569290	3	2	25	1	0	0	0	0	1	0	0	0	9021	1203	42	4	3685	4	LRP1	12	57569290	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	1927500	57569290	76282605	49	1573											
GALNT9	50614	broad.mit.edu	37	chr12	132682414	132682414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcatgcggcccgtgcCgtcatccaccagacacttgg	6	7	14	14	3	1	1	1	0	0	1	2	1	2	1	4	4	2	1	4	4	0	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr12:132682414C>T	uc001ukc.4	-	9	1704	c.1588G>A	c.(1588-1590)Ggc>Agc	p.G530S	GALNT9_uc009zyr.3_Missense_Mutation_p.G304S|GALNT9_uc001ukb.3_Missense_Mutation_p.G387S|GALNT9_uc001uka.3_Missense_Mutation_p.G164S	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	530	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CGGCCCGTGCCGTCATCCACC	0.657													T	132682414	C	T	132682414	3	4	25	1	0	0	0	0	1	0	0	0	6274	652	23	1	231	1	GALNT9	12	132682414	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	75113124	132682414	1169481	50	1574											
SYNE2	23224	broad.mit.edu	37	chr14	64457171	64457171	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttgatgagcttatggcaAgaagtgaagatatgttacaa	14	13	11	3	0	0	5	0	3	0	2	0	5	0	5	0	1	2	4	0	1	7	4			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr14:64457171A>G	uc001xgl.3	+	19	2586	c.2356A>G	c.(2356-2358)Aga>Gga	p.R786G	SYNE2_uc001xgm.3_Missense_Mutation_p.R786G|SYNE2_uc021ruh.1_Missense_Mutation_p.R786G	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	786					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GCTTATGGCAAGAAGTGAAGA	0.343													G	64457171	A	G	64457171	3	3	25	1	0	0	0	0	1	0	0	0	15543	64	3	3	2430	3	SYNE2	14	64457171	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		64457171	42892369	51	1575											
GABRA5	2558	broad.mit.edu	37	chr15	27182399	27182399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcggtggtggtggcGgaagatggctccagactgaa	10	7	16	8	2	0	3	0	1	0	2	2	4	1	4	2	6	0	1	2	6	3	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:27182399G>A	uc001zbd.2	+	7	1180	c.648G>A	c.(646-648)gcG>gcA	p.A216A	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Silent_p.A216A	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	216					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGTGGTGGCGGAAGATGGCT	0.577													A	27182399	G	A	27182399	2	1	25	1	0	0	0	0	0	0	0	1	6216	1103	39	1		1	GABRA5	15	27182399	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08		27182399	75348993	52	1576											
BAHD1	22893	broad.mit.edu	37	chr15	40751044	40751044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccctcaatgctgaagctctCaataacctgctgctggagcg	9	10	9	13	1	2	1	2	1	1	0	4	2	3	2	2	1	6	4	2	1	4	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr15:40751044C>T	uc001zlu.2	+	1	452	c.381C>T	c.(379-381)ctC>ctT	p.L127L	BAHD1_uc001zlt.2_Silent_p.L127L|BAHD1_uc010bbp.1_Silent_p.L127L|BAHD1_uc001zlv.2_Silent_p.L127L	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	127					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CTGAAGCTCTCAATAACCTGC	0.682													T	40751044	C	T	40751044	2	4	25	1	0	0	0	0	0	0	0	1	1302	813	29	2		2	BAHD1	15	40751044	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	13568645	40751044	61780348	53	1577											
CREBBP	1387	broad.mit.edu	37	chr16	3807844	3807844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatccaagggactgcatgAcagggtcaatttcctgctca	12	10	9	10	0	2	1	2	1	0	0	4	2	4	2	2	2	2	2	2	2	4	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:3807844A>G	uc002cvv.3	-	17	3779	c.3575T>C	c.(3574-3576)gTc>gCc	p.V1192A	CREBBP_uc002cvw.3_Missense_Mutation_p.V1154A	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1192					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GGACTGCATGACAGGGTCAAT	0.443			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						G	3807844	A	G	3807844	3	3	25	1	0	0	0	0	1	0	0	0	3892	275	10	3	3809	3	CREBBP	16	3807844	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08		3807844	86546909	54	1578											
XYLT1	64131	broad.mit.edu	37	chr16	17228564	17228564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccacggcttcaaacttgCgggcaaagaaggtaggccgg	11	6	13	11	3	2	1	2	0	0	1	2	1	2	1	2	5	2	3	2	5	4	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:17228564C>T	uc002dfa.3	-	8	1878	c.1793G>A	c.(1792-1794)cGc>cAc	p.R598H		NM_022166	NP_071449	Q86Y38	XYLT1_HUMAN	Homo sapiens xylosyltransferase I (XYLT1), mRNA.	598					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.R598H(4)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCAAACTTGCGGGCAAAGAA	0.552													T	17228564	C	T	17228564	3	4	25	1	0	0	0	0	1	0	0	0	17565	768	27	1	1102	1	XYLT1	16	17228564	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13420720	17228564	73126189	55	1579											
RLTPR	146206	broad.mit.edu	37	chr16	67683162	67683162	+	Frame_Shift_Del	DEL	C	C	-																															ggcccctgcccacagggagaCcctggacgacgtcctgcacc																										TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:67683162delC	uc002etn.3	+	18	1814	c.1694delC	c.(1693-1695)accfs	p.T565fs	RLTPR_uc010cel.1_Frame_Shift_Del_p.T558fs|RLTPR_uc010vjr.2_Frame_Shift_Del_p.T529fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	565										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CACAGGGAGACCCTGGACGAC	0.637													-	67683162	C	-	67683162	7	5	25	1	0	1	0	1	0	0	0	0	13485	507	18	0	1768	0	RLTPR	16	67683162	Frame_Shift_Del	DEL	C	TCGA-06-0154-01A-03D-1491-08	50454598	67683162	22671591	56	1580											
ZNF23	7571	broad.mit.edu	37	chr16	71482423	71482423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attccttacattgatagggcTtttctccagtatggattcgg	8	16	9	8	1	1	1	0	1	1	0	4	2	2	2	2	3	1	2	2	3	3	8			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr16:71482423T>C	uc002faf.3	-	5	2319	c.1505A>G	c.(1504-1506)aAg>aGg	p.K502R	ZNF23_uc002fah.3_Missense_Mutation_p.K502R|ZNF23_uc002fad.3_Missense_Mutation_p.K444R|ZNF23_uc010vmf.2_Missense_Mutation_p.K444R|ZNF23_uc002fag.3_Missense_Mutation_p.K444R|ZNF23_uc002fai.3_Missense_Mutation_p.K541R	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		TTGATAGGGCTTTTCTCCAGT	0.403													C	71482423	T	C	71482423	3	2	25	1	0	0	0	0	1	0	0	0	17884	1609	56	3	430	3	ZNF23	16	71482423	Missense_Mutation	SNP	T	TCGA-06-0154-01A-03D-1491-08	3799261	71482423	18872330	57	1581											
MYH2	4620	broad.mit.edu	37	chr17	10428788	10428788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtaagtttttgttctctCgcttcagggtttctagctga	5	18	10	8	1	3	1	1	1	2	0	5	1	3	1	0	1	1	7	0	1	2	7			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10428788C>T	uc010coi.3	-	31	4645	c.4517G>A	c.(4516-4518)cGa>cAa	p.R1506Q	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1506Q|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1506					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1506Q(2)|p.R1506*(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTTGTTCTCTCGCTTCAGGGT	0.428													T	10428788	C	T	10428788	3	4	25	1	0	0	0	0	1	0	0	0	10111	884	31	1	1344	1	MYH2	17	10428788	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		10428788	70766422	58	1582											
MYH2	4620	broad.mit.edu	37	chr17	10442604	10442604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccagctgctggttgatgCgggcaaccatccacaggaac	9	8	12	12	1	0	1	0	1	0	0	2	2	2	2	3	3	5	4	3	3	2	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:10442604C>T	uc010coi.3	-	13	1462	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R445H|MYH2_uc010coj.3_Missense_Mutation_p.R445H	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	445	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R445H(6)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTGGTTGATGCGGGCAACCAT	0.473													T	10442604	C	T	10442604	3	4	25	1	0	0	0	0	1	0	0	0	10111	768	27	1	4599	1	MYH2	17	10442604	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13816	10442604	70752606	59	1583											
GAS2L2	246176	broad.mit.edu	37	chr17	34074267	34074267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggccgggggcttcaGgaagctgcctggcttgtgtg	3	10	20	8	1	1	0	1	0	0	0	1	1	1	1	2	7	2	3	2	7	1	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:34074267G>A	uc002hjv.2	-	4	881	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	285					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGGGCTTCAGGAAGCTGCCT	0.597													A	34074267	G	A	34074267	2	1	25	1	0	0	0	0	0	0	0	1	6301	991	35	2		2	GAS2L2	17	34074267	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08	23631663	34074267	47120943	60	1584											
KRT33B	3884	broad.mit.edu	37	chr17	39522870	39522870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgcagggactgctccGtctggtacctgcacacacag	7	7	12	15	2	1	0	0	0	1	0	2	1	2	1	3	2	4	5	3	2	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39522870G>A	uc002hwl.3	-	2	485	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_002279	NP_002270	Q14525	KT33B_HUMAN	Homo sapiens keratin 33B (KRT33B), mRNA.	147	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GGACTGCTCCGTCTGGTACCT	0.517													A	39522870	G	A	39522870	3	1	25	1	0	0	0	0	1	0	0	0	8528	1145	40	1	794	1	KRT33B	17	39522870	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	5448603	39522870	41672340	61	1585											
KRT34	3885	broad.mit.edu	37	chr17	39535941	39535941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagtgtccacctccaCgttgaggcggtctccaagct	6	8	14	13	2	1	1	0	1	1	0	4	1	3	1	4	4	1	3	4	4	1	1	rs140296098	byFrequency	TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:39535941C>T	uc002hwm.3	-	3	769	c.757G>A	c.(757-759)Gtg>Atg	p.V253M		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	253	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.552													T	39535941	C	T	39535941	3	4	25	1	0	0	0	0	1	0	0	0	8529	536	19	1	569	1	KRT34	17	39535941	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	13071	39535941	41659269	62	1586											
OTOP3	347741	broad.mit.edu	37	chr17	72937902	72937902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggggcccctctgggtgcGgggtgagtgtcaggttgctg	2	9	20	10	3	2	1	1	1	1	0	2	1	2	1	2	6	2	2	2	6	0	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr17:72937902G>A	uc010wrr.2	+	1	488	c.488G>A	c.(487-489)cGg>cAg	p.R163Q	OTOP3_uc010wrq.2_Missense_Mutation_p.R145Q	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	163						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					CTCTGGGTGCGGGGTGAGTGT	0.687													A	72937902	G	A	72937902	3	1	25	1	0	0	0	0	1	0	0	0	11383	1116	39	1	494	1	OTOP3	17	72937902	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	33401961	72937902	8257308	63	1587											
ZFR2	23217	broad.mit.edu	37	chr19	3825291	3825291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgctcgaggcacacaCgctggggccagtgggggacg	6	5	18	12	3	0	0	0	0	0	0	1	2	0	1	2	6	1	3	2	6	0	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:3825291C>T	uc002lyw.2	-	6	1162	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	ZFR2_uc010xhx.1_Intron	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	384						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		GAGGCACACACGCTGGGGCCA	0.672													T	3825291	C	T	3825291	3	4	25	1	0	0	0	0	1	0	0	0	17761	536	19	1	1721	1	ZFR2	19	3825291	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08		3825291	55303692	64	1588											
OR7D2	162998	broad.mit.edu	37	chr19	9297245	9297245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggtccacttcacttctgCggtgactcactcttcccaga	6	12	9	14	1	4	2	2	1	2	1	6	2	6	2	2	3	1	0	2	3	0	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:9297245C>T	uc002mkz.1	+	0	976	c.788C>T	c.(787-789)gCg>gTg	p.A263V		NM_175883	NP_787079	Q96RA2	OR7D2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily D, member 2 (OR7D2), mRNA.	263					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A263V(2)		breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTCACTTCTGCGGTGACTCAC	0.507													T	9297245	C	T	9297245	3	4	25	1	0	0	0	0	1	0	0	0	11295	768	27	1	790	1	OR7D2	19	9297245	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	5471954	9297245	49831738	65	1589											
TRMT1	55621	broad.mit.edu	37	chr19	13218442	13218442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctctgatagtcgctccCgtttcaccggacattccttc	6	14	7	14	3	2	1	1	1	1	0	7	2	4	2	3	1	0	2	3	1	2	5			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:13218442C>T	uc002mwj.2	-	12	1779	c.1529G>A	c.(1528-1530)cGg>cAg	p.R510Q	TRMT1_uc010xmy.1_Missense_Mutation_p.R114Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R481Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R510Q|TRMT1_uc010xmz.1_Missense_Mutation_p.R296Q	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	510							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		TAGTCGCTCCCGTTTCACCGG	0.617													T	13218442	C	T	13218442	3	4	25	1	0	0	0	0	1	0	0	0	16662	652	23	1	466	1	TRMT1	19	13218442	Missense_Mutation	SNP	C	TCGA-06-0154-01A-03D-1491-08	3921197	13218442	45910541	66	1590											
NLRP2	55655	broad.mit.edu	37	chr19	55494686	55494686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtacagaagctgctttcCggagtagaaagactcaggaa	14	7	12	8	2	1	3	1	0	0	3	2	6	2	5	1	2	3	4	1	2	5	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr19:55494686C>T	uc021vbq.1	+	5	1731	c.1620C>T	c.(1618-1620)tcC>tcT	p.S540S	NLRP2_uc010yfp.2_Silent_p.S517S|NLRP2_uc002qij.3_Silent_p.S540S|NLRP2_uc010esp.3_Silent_p.S518S|NLRP2_uc010esn.3_Silent_p.S516S|NLRP2_uc010eso.3_Silent_p.S537S	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	540					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AGCTGCTTTCCGGAGTAGAAA	0.552													T	55494686	C	T	55494686	2	4	25	1	0	0	0	0	0	0	0	1	10553	639	23	1		1	NLRP2	19	55494686	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	42276244	55494686	3634297	67	1591											
PDYN	5173	broad.mit.edu	37	chr20	1961100	1961100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttgggacgaatgcgccGcaagaagcccccatagcgtt	10	6	13	12	4	0	1	0	0	0	1	0	4	0	2	3	1	4	3	3	1	4	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:1961100G>A	uc010gaj.3	-	2	876	c.634C>T	c.(634-636)Cgg>Tgg	p.R212W	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.R212W|PDYN_uc021vzt.1_Missense_Mutation_p.R212W|PDYN_uc021vzu.1_Missense_Mutation_p.R212W|PDYN_uc002wfv.3_Missense_Mutation_p.R212W	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	212			R -> W (in SCA23; the mutant PDYN protein is produced, but processing to opioid peptides is dramatically affected, with increased levels of dynorphin A compared to dynorphin B; mutant dynorphin A is neurotoxic to cultured striatal neurons, suggesting a dominant-negative effect).		cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CGAATGCGCCGCAAGAAGCCC	0.587													A	1961100	G	A	1961100	3	1	25	1	0	0	0	0	1	0	0	0	11775	1086	38	1	134	1	PDYN	20	1961100	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		1961100	61064420	68	1592											
SPAG4	6676	broad.mit.edu	37	chr20	34206631	34206631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtccactgttcgggcaGccaacagcgaggtgagcccc	8	6	14	13	2	0	1	0	1	0	0	2	2	1	1	4	3	4	2	4	3	1	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:34206631G>A	uc002xdb.1	+	6	823	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	SPAG4_uc010zvi.1_Missense_Mutation_p.A159T	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	236					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			TGTTCGGGCAGCCAACAGCGA	0.642													A	34206631	G	A	34206631	3	1	25	1	0	0	0	0	1	0	0	0	15076	971	34	2	732	2	SPAG4	20	34206631	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	32245531	34206631	28818889	69	1593											
PCIF1	63935	broad.mit.edu	37	chr20	44571848	44571848	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagtcgtgtcaccttcCatgtttcgtgaaatcatgaa	11	12	8	10	2	2	2	2	2	0	0	5	3	3	2	3	0	1	1	3	0	3	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr20:44571848C>T	uc002xqs.3	+	7	1100	c.786C>T	c.(784-786)tcC>tcT	p.S262S	PCIF1_uc002xqt.3_5'Flank	NM_022104	NP_071387	Q9H4Z3	PCIF1_HUMAN	Homo sapiens PDX1 C-terminal inhibiting factor 1 (PCIF1), mRNA.	262						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						TGTCACCTTCCATGTTTCGTG	0.527													T	44571848	C	T	44571848	2	4	25	1	0	0	0	0	0	0	0	1	11656	581	21	2		2	PCIF1	20	44571848	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08	10365217	44571848	18453672	70	1594											
RIPK4	54101	broad.mit.edu	37	chr21	43161994	43161994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcagcagccacttggcGcactcctcttgcccggcctc	5	9	10	17	2	1	1	0	1	1	0	3	1	2	1	4	2	4	3	4	2	0	3			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr21:43161994G>A	uc002yzn.1	-	7	1407	c.1359C>T	c.(1357-1359)tgC>tgT	p.C453C		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	453						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.C453C(2)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657													A	43161994	G	A	43161994	2	1	25	1	0	0	0	0	0	0	0	1	13474	1079	38	1		1	RIPK4	21	43161994	Silent	SNP	G	TCGA-06-0154-01A-03D-1491-08		43161994	4967901	71	1595											
SLC5A4	6527	broad.mit.edu	37	chr22	32650199	32650199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggttggtcttcagcatcGcctgagcagaagggaagaca	10	8	13	10	2	2	3	1	1	1	2	4	4	2	4	1	3	2	3	1	3	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:32650199G>A	uc003ami.3	-	2	138	c.136_splice	c.e2-1	p.A46_splice		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	46			A -> T (in dbSNP:rs2235171).		carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTCAGCATCGCCTGAGCAGA	0.572													A	32650199	G	A	32650199	3	1	25	1	0	0	0	0	1	0	0	0	14761	1101	38	1	1898	1	SLC5A4	22	32650199	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08		32650199	18654367	72	1596											
ISX	91464	broad.mit.edu	37	chr22	35480407	35480407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagcgagccaagtggcGgaagcaggagaagattggca	14	4	16	7	2	1	2	1	0	0	2	1	6	1	3	1	4	3	2	1	4	4	1			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:35480407G>A	uc003anj.3	+	2	1364	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_001008494	NP_001008494	Q2M1V0	ISX_HUMAN	Homo sapiens intestine-specific homeobox (ISX), mRNA.	138						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(12)|ovary(3)|prostate(1)|skin(4)	26						GCCAAGTGGCGGAAGCAGGAG	0.537													A	35480407	G	A	35480407	3	1	25	1	0	0	0	0	1	0	0	0	7923	1116	39	1	423	1	ISX	22	35480407	Missense_Mutation	SNP	G	TCGA-06-0154-01A-03D-1491-08	2830208	35480407	15824159	73	1597											
SGSM3	27352	broad.mit.edu	37	chr22	40803235	40803235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggaggcactcaaggccaAgaacatcaagcagacggaac	15	3	11	12	1	2	2	2	0	0	2	2	4	2	4	2	4	3	2	2	4	5	0			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chr22:40803235A>G	uc003ayu.1	+	11	1480	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	SGSM3_uc011aos.1_Missense_Mutation_p.K357R|SGSM3_uc011aot.1_Missense_Mutation_p.K361R	NM_015705	NP_056520	Q96HU1	SGSM3_HUMAN	Homo sapiens small G protein signaling modulator 3 (SGSM3), mRNA.	424					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CTCAAGGCCAAGAACATCAAG	0.627													G	40803235	A	G	40803235	3	3	25	1	0	0	0	0	1	0	0	0	14317	72	3	3	1313	3	SGSM3	22	40803235	Missense_Mutation	SNP	A	TCGA-06-0154-01A-03D-1491-08	5322828	40803235	10501331	74	1598											
ELF4	2000	broad.mit.edu	37	chrX	129200915	129200915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctggttgcccagaaggctCggattgtgggaacccctgga	7	9	15	10	1	1	1	0	0	1	1	2	4	1	4	3	5	2	2	3	5	2	2			TCGA-06-0154-01A-03D-1491-08	TCGA-06-0154-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f5045707-3ddd-4ade-959a-b368437752fb	bfc36431-e6a1-4c02-98c1-6bcca13ea93b	g.chrX:129200915C>T	uc004evd.4	-	8	2158	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	ELF4_uc004eve.4_Silent_p.P591P	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	591					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCAGAAGGCTCGGATTGTGGG	0.607			T	ERG	AML								T	129200915	C	T	129200915	2	4	25	1	0	0	0	0	0	0	0	1	5097	871	31	1		1	ELF4	23	129200915	Silent	SNP	C	TCGA-06-0154-01A-03D-1491-08		129200915	26069645	75	1599											
CLCNKA	1188	broad.mit.edu	37	chr1	16378751	16378751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacggcgctgctggccttCgaggtgaccggccagatagt	6	8	14	13	4	0	2	0	1	0	1	2	3	1	2	4	4	1	2	4	4	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:16378751C>T	uc001axx.4	+	14	1603	c.1467C>T	c.(1465-1467)ttC>ttT	p.F489F	CLCNKA_uc021ogl.1_Silent_p.F136F|CLCNKA_uc021ogm.1_Silent_p.F320F|CLCNKA_uc001axy.4_Silent_p.F320F	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	489					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TGCTGGCCTTCGAGGTGACCG	0.657													T	16378751	C	T	16378751	2	4	26	1	0	0	0	0	0	0	0	1	3500	883	31	1		1	CLCNKA	1	16378751	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		16378751	232871870	1	1600											
KLF17	128209	broad.mit.edu	37	chr1	44595217	44595217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggccacagttcagtatgCcactgcctgagcgtggtatg	7	9	15	10	1	1	1	1	1	0	0	1	1	1	1	3	3	3	3	3	3	2	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:44595217C>T	uc001clp.3	+	1	332	c.274C>T	c.(274-276)Cca>Tca	p.P92S	KLF17_uc009vxf.1_Missense_Mutation_p.P55S	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	92					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					GTTCAGTATGCCACTGCCTGA	0.567													T	44595217	C	T	44595217	3	4	26	1	0	0	0	0	1	0	0	0	8403	739	26	2	280	2	KLF17	1	44595217	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	28216466	44595217	204655404	2	1601											
TESK2	10420	broad.mit.edu	37	chr1	45923297	45923297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgaaatcatccaaacgcGtcagtctggaaaaggcactt	14	8	10	9	2	3	1	2	1	1	0	4	2	4	2	1	3	1	1	1	3	4	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:45923297G>A	uc001cns.1	-	1	564	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TESK2_uc009vxr.1_Missense_Mutation_p.T54M|TESK2_uc010olo.1_Intron|TESK2_uc009vxs.1_5'UTR|TESK2_uc010olp.1_Missense_Mutation_p.T54M	NM_007170	NP_009101	Q96S53	TESK2_HUMAN	Homo sapiens testis-specific kinase 2 (TESK2), mRNA.	54					actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					ATCCAAACGCGTCAGTCTGGA	0.453													A	45923297	G	A	45923297	3	1	26	1	0	0	0	0	1	0	0	0	15868	1145	40	1	1594	1	TESK2	1	45923297	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	1328080	45923297	203327324	3	1602											
AP4B1	10717	broad.mit.edu	37	chr1	114438528	114438528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcacaggtctttctgccGgatcctccaaaagtccaaga	11	11	7	12	1	3	1	1	0	2	1	6	2	6	2	4	2	1	0	4	2	4	3	rs149723440		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:114438528G>A	uc001eeb.3	-	8	1829	c.1643C>T	c.(1642-1644)cCg>cTg	p.P548L	LOC100287722_uc001edv.1_Intron|AP4B1_uc001eec.3_Missense_Mutation_p.P380L|AP4B1_uc010owp.2_Missense_Mutation_p.P449L|AP4B1_uc001eed.3_Missense_Mutation_p.P548L|AP4B1_uc001eea.1_3'UTR|AP4B1_uc001eee.1_Missense_Mutation_p.P75L	NM_001253852	NP_001240781	Q9Y6B7	AP4B1_HUMAN	Homo sapiens adaptor-related protein complex 4, beta 1 subunit (AP4B1), transcript variant 2, mRNA.	548					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	p.P548P(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTTTCTGCCGGATCCTCCAA	0.498													A	114438528	G	A	114438528	3	1	26	1	0	0	0	0	1	0	0	0	753	1116	39	1	584	1	AP4B1	1	114438528	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	68515231	114438528	134812093	4	1603											
SPTA1	6708	broad.mit.edu	37	chr1	158653172	158653172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tacatataccttcgtttcttCgtgggcagaatgacccatgg	9	13	9	10	2	1	2	0	1	1	1	3	2	1	2	2	2	2	2	2	2	4	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:158653172C>G	uc001fst.1	-	2	578	c.379G>C	c.(379-381)Gaa>Caa	p.E127Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	127				Missing (in Ref. 3; AAA60575).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TTCGTTTCTTCGTGGGCAGAA	0.388													G	158653172	C	G	158653172	3	3	26	1	0	0	0	0	1	0	0	0	15212	893	31	4	7080	4	SPTA1	1	158653172	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	44214644	158653172	90597449	5	1604											
ANGPTL1	9068	broad.mit.edu	37	chr1	178834371	178834371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacaagatcagtcaaggAagcgtatttcacctctagtt	13	12	8	8	1	4	2	3	1	1	1	4	3	4	3	1	1	1	2	1	1	5	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:178834371A>G	uc001gma.3	-	2	1017	c.541T>C	c.(541-543)Tcc>Ccc	p.S181P	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S181P|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S103P	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	181						extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TCAGTCAAGGAAGCGTATTTC	0.423													G	178834371	A	G	178834371	3	3	26	1	0	0	0	0	1	0	0	0	613	246	9	3	950	3	ANGPTL1	1	178834371	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	20181199	178834371	70416250	6	1605											
OBSCN	84033	broad.mit.edu	37	chr1	228431145	228431145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagagggtctccttccGcctgcacatcacaggtgggt	6	8	14	13	1	2	1	1	0	1	1	4	1	3	1	4	4	1	1	4	4	0	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228431145G>T	uc009xez.1	+	9	3235	c.3191G>T	c.(3190-3192)cGc>cTc	p.R1064L	OBSCN_uc001hsn.3_Missense_Mutation_p.R1064L	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1064	Ig-like 10.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTCTCCTTCCGCCTGCACATC	0.552													T	228431145	G	T	228431145	3	4	26	1	0	0	0	0	1	0	0	0	10888	1087	38	4	3225	4	OBSCN	1	228431145	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	49596774	228431145	20819476	7	1606											
OBSCN	84033	broad.mit.edu	37	chr1	228557713	228557713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtcctggaggggcgcGtgtcatggagcagccccatg	7	7	16	11	3	1	1	1	1	0	0	2	3	2	3	3	4	3	1	3	4	1	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:228557713G>A	uc009xez.1	+	90	20082	c.20038G>A	c.(20038-20040)Gtg>Atg	p.V6680M	OBSCN_uc001hsr.1_Missense_Mutation_p.V1309M	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6680	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGGGCGCGTGTCATGGAG	0.642													A	228557713	G	A	228557713	3	1	26	1	0	0	0	0	1	0	0	0	10888	1145	40	1	21606	1	OBSCN	1	228557713	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	126568	228557713	20692908	8	1607											
CHRM3	1131	broad.mit.edu	37	chr1	240072235	240072235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggcccagaccctcagtgCgatcttgcttgccttcatca	7	10	9	15	2	4	1	3	0	1	1	4	2	4	1	3	1	4	1	3	1	0	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:240072235C>T	uc021plc.1	+	0	1484	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	CHRM3_uc001hyp.3_Missense_Mutation_p.A495V	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	495					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	ACCCTCAGTGCGATCTTGCTT	0.493													T	240072235	C	T	240072235	3	4	26	1	0	0	0	0	1	0	0	0	3408	768	27	1	1486	1	CHRM3	1	240072235	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	11514522	240072235	9178386	9	1608											
HNRNPU	3192	broad.mit.edu	37	chr1	245022048	245022050	+	In_Frame_Del	DEL	CAT	CAT	-																															tacagcaaaacatgtaatcaCatcattttcatcaaactttt																										TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr1:245022048_245022050delCAT	uc001iaz.1	-	5	1429_1431	c.1211_1213delATG	c.(1210-1215)gatgtg>gtg	p.D404del	HNRNPU_uc001iay.1_In_Frame_Del_p.D128del|HNRNPU_uc001iba.1_In_Frame_Del_p.D385del	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	404	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CATGTAATCACATCATTTTCATC	0.31													-	245022050	CAT	-	245022048	7	5	26	1	0	1	0	1	0	0	0	0	7328	478	17	0	1300	0	HNRNPU	1	245022048	In_Frame_Del	DEL	CAT	TCGA-06-0155-01B-01D-1492-08	4949813	245022048	4228573	10	1609											
CAPN13	92291	broad.mit.edu	37	chr2	30966369	30966369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatggtgaagttgcggCggaatttattatttgagctt	10	15	12	4	2	1	2	1	2	0	0	1	3	1	3	0	3	2	2	0	3	5	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:30966369C>T	uc021vfn.1	-	11	1357	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.R438H|CAPN13_uc002rno.3_5'UTR	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	442					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					GAAGTTGCGGCGGAATTTATT	0.463													T	30966369	C	T	30966369	3	4	26	1	0	0	0	0	1	0	0	0	2652	768	27	1	724	1	CAPN13	2	30966369	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		30966369	212233004	11	1610											
LHCGR	3973	broad.mit.edu	37	chr2	48915170	48915170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttgaaggcagctgagatgGcaaaaaaagagataggtgcc	15	7	13	6	0	0	3	0	2	0	2	0	5	0	3	1	3	2	3	1	3	5	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:48915170G>A	uc002rwu.4	-	10	1836	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	589					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	AGCTGAGATGGCAAAAAAAGA	0.383													A	48915170	G	A	48915170	3	1	26	1	0	0	0	0	1	0	0	0	8822	1203	42	2	337	2	LHCGR	2	48915170	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	17948801	48915170	194284203	12	1611											
DYSF	8291	broad.mit.edu	37	chr2	71871111	71871111	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggaagagttcatcgAttggtggagcaaattctttg	11	12	13	5	1	3	1	2	0	1	1	4	5	3	4	0	4	1	2	0	4	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:71871111A>C	uc010fen.3	+	41	4685	c.4544A>C	c.(4543-4545)gAt>gCt	p.D1515A	DYSF_uc010fei.3_Missense_Mutation_p.D1493A|DYSF_uc010feh.3_Missense_Mutation_p.D1483A|DYSF_uc002sig.4_Missense_Mutation_p.D1462A|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.D1507A|DYSF_uc010fee.3_Missense_Mutation_p.D1497A|DYSF_uc010fef.3_Missense_Mutation_p.D1514A|DYSF_uc002sie.3_Missense_Mutation_p.D1476A|DYSF_uc010feo.3_Missense_Mutation_p.D1508A|DYSF_uc010fej.3_Missense_Mutation_p.D1484A|DYSF_uc010fel.3_Missense_Mutation_p.D1463A|DYSF_uc010fem.3_Missense_Mutation_p.D1498A|DYSF_uc002sif.3_Missense_Mutation_p.D1477A|DYSF_uc010fek.3_Missense_Mutation_p.D1494A|DYSF_uc010yqy.2_Missense_Mutation_p.D357A|DYSF_uc010yqz.2_Missense_Mutation_p.D237A	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1476						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGTTCATCGATTGGTGGAGC	0.502													C	71871111	A	C	71871111	3	2	26	1	0	0	0	0	1	0	0	0	4898	333	12	5	4848	5	DYSF	2	71871111	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	22955941	71871111	171328262	13	1612											
SCN9A	6335	broad.mit.edu	37	chr2	167085353	167085353	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtgacccatctgtggtgtTaatacactcatagaacttgc	10	12	8	11	1	2	2	1	1	1	1	2	2	2	2	2	1	3	1	2	1	4	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:167085353T>A	uc010fpl.3	-	21	4362	c.4021A>T	c.(4021-4023)Aac>Tac	p.N1341Y	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1352						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTGTGGTGTTAATACACTCA	0.403													A	167085353	T	A	167085353	3	1	26	1	0	0	0	0	1	0	0	0	14018	1754	61	5	1936	5	SCN9A	2	167085353	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	95214242	167085353	76114020	14	1613											
TTN	7273	broad.mit.edu	37	chr2	179437058	179437058	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagcaggcagcccaaTgccatattcattttctgcga	9	12	9	11	1	3	0	2	0	1	0	3	1	3	0	2	2	4	3	2	2	2	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr2:179437058T>C	uc021vsy.1	-	274	66322	c.66097A>G	c.(66097-66099)Att>Gtt	p.I22033V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I15728V|TTN_uc021vta.1_Missense_Mutation_p.I15661V|TTN_uc021vtb.1_Missense_Mutation_p.I15536V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22960	Ig-like 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCAGCCCAATGCCATATTCA	0.448													C	179437058	T	C	179437058	3	2	26	1	0	0	0	0	1	0	0	0	16837	1464	51	3	34326	3	TTN	2	179437058	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	12351705	179437058	63762315	15	1614											
CDHR4	389118	broad.mit.edu	37	chr3	49836331	49836331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtgactgtctctggCacctgaatcatttccccagc	7	11	9	14	0	2	2	1	2	1	0	4	2	3	2	4	2	1	1	4	2	1	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:49836331C>T	uc010hkz.3	-	3	432	c.423G>A	c.(421-423)gtG>gtA	p.V141V	CDHR4_uc003cxp.2_Missense_Mutation_p.A167T|CDHR4_uc011bcw.2_Silent_p.V141V	NM_001007540	NP_001007541	A6H8M9	CDHR4_HUMAN	Homo sapiens cadherin-related family member 4 (CDHR4), mRNA.	141					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CTGTCTCTGGCACCTGAATCA	0.652													T	49836331	C	T	49836331	2	4	26	1	0	0	0	0	0	0	0	1	3151	697	25	2		2	CDHR4	3	49836331	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		49836331	148186099	16	1615											
STAB1	23166	broad.mit.edu	37	chr3	52554842	52554842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccctgaggcctgctggcGcttctacccgaagttctgga	6	9	12	14	2	2	1	0	1	2	0	2	3	2	2	3	3	3	3	3	3	2	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:52554842G>A	uc003dej.3	+	54	5803	c.5729G>A	c.(5728-5730)cGc>cAc	p.R1910H	STAB1_uc003dek.1_5'UTR|STAB1_uc003del.3_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1910					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCTGCTGGCGCTTCTACCCG	0.662													A	52554842	G	A	52554842	3	1	26	1	0	0	0	0	1	0	0	0	15333	1087	38	1	5947	1	STAB1	3	52554842	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	2718511	52554842	145467588	17	1616											
PROS1	5627	broad.mit.edu	37	chr3	93603713	93603713	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatcaaattccagcttcGtatacatccatctagacgag	12	12	5	12	2	3	1	2	0	1	1	6	2	5	1	2	0	2	2	2	0	4	6	rs5017717		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:93603713G>A	uc003drb.4	-	11	1692	c.1351C>T	c.(1351-1353)Cga>Tga	p.R451*	PROS1_uc010hoo.3_Nonsense_Mutation_p.R320*|PROS1_uc003dqz.4_Nonsense_Mutation_p.R320*	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	451	Laminin G-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTCCAGCTTCGTATACATCCA	0.358													A	93603713	G	A	93603713	4	1	26	1	0	0	0	0	0	1	0	0	12644	1153	40	1	695	1	PROS1	3	93603713	Nonsense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	41048871	93603713	104418717	18	1617											
ZIC1	7545	broad.mit.edu	37	chr3	147130368	147130368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgctaacagcagcgaccGcaagaagcacatgcacgtgc	12	5	10	14	4	0	1	0	0	0	1	1	2	0	1	1	0	6	5	1	0	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr3:147130368G>A	uc003ewe.3	+	1	1765	c.1046G>A	c.(1045-1047)cGc>cAc	p.R349H		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	349					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D348N(2)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						AGCAGCGACCGCAAGAAGCAC	0.542													A	147130368	G	A	147130368	3	1	26	1	0	0	0	0	1	0	0	0	17779	1087	38	1	1052	1	ZIC1	3	147130368	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	53526655	147130368	50892062	19	1618											
SULT1B1	27284	broad.mit.edu	37	chr4	70596339	70596339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatgatcctatccaagaTctcatcattcaggttcttct	10	15	6	10	0	5	2	3	1	3	1	8	3	7	3	2	2	0	1	2	2	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:70596339T>G	uc003hen.3	-	6	956	c.658A>C	c.(658-660)Atc>Ctc	p.I220L		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	220					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CTATCCAAGATCTCATCATTC	0.363													G	70596339	T	G	70596339	3	3	26	1	0	0	0	0	1	0	0	0	15472	1435	50	5	240	5	SULT1B1	4	70596339	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		70596339	120557937	20	1619											
BMP3	651	broad.mit.edu	37	chr4	81967402	81967402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccaaatgggatagccAcatcagagctgccctttcca	10	10	8	13	0	1	1	1	0	0	1	3	2	3	2	4	1	3	2	4	1	2	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:81967402A>G	uc003hmg.4	+	1	1147	c.827A>G	c.(826-828)cAc>cGc	p.H276R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	276					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TGGGATAGCCACATCAGAGCT	0.517													G	81967402	A	G	81967402	3	3	26	1	0	0	0	0	1	0	0	0	1467	159	6	3	833	3	BMP3	4	81967402	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	11371063	81967402	109186874	21	1620											
QRFPR	84109	broad.mit.edu	37	chr4	122254151	122254151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagatcttctggtgcacagGgctggtccactcttctaagc	7	12	11	11	0	4	1	0	0	4	1	5	1	5	1	1	3	2	3	1	3	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr4:122254151G>A	uc010inj.1	-	3	1001	c.622C>T	c.(622-624)Cct>Tct	p.P208S	QRFPR_uc010ink.1_Non-coding_Transcript|QRFPR_uc003ids.2_Missense_Mutation_p.P208S	NM_198179	NP_937822	Q96P65	QRFPR_HUMAN	Homo sapiens pyroglutamylated RFamide peptide receptor (QRFPR), mRNA.	208						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGGTGCACAGGGCTGGTCCAC	0.388													A	122254151	G	A	122254151	3	1	26	1	0	0	0	0	1	0	0	0	12966	1232	43	2	685	2	QRFPR	4	122254151	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	40286749	122254151	68900125	22	1621											
CARD6	84674	broad.mit.edu	37	chr5	40853779	40853779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccagggccgaggtaaaaGttttggtattcaatccttcc	9	11	11	10	1	1	0	1	0	0	0	3	1	3	0	4	4	0	3	4	4	4	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:40853779G>A	uc003jmg.3	+	2	2420	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	782					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CGAGGTAAAAGTTTTGGTATT	0.488													A	40853779	G	A	40853779	3	1	26	1	0	0	0	0	1	0	0	0	2676	1029	36	2	2355	2	CARD6	5	40853779	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		40853779	140061481	23	1622											
ADAMTS6	11174	broad.mit.edu	37	chr5	64766854	64766854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatcaatagggtccatactCcgtcttctccttgagtgttt	7	15	9	10	1	3	1	1	1	2	0	6	2	5	2	3	2	1	1	3	2	3	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:64766854C>T	uc003jtp.3	-	2	1027	c.213G>A	c.(211-213)cgG>cgA	p.R71R	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_5'UTR	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	71					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		GGTCCATACTCCGTCTTCTCC	0.383													T	64766854	C	T	64766854	2	4	26	1	0	0	0	0	0	0	0	1	270	842	30	2		2	ADAMTS6	5	64766854	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	23913075	64766854	116148406	24	1623											
MAP1B	4131	broad.mit.edu	37	chr5	71494069	71494069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctcccctaaaactgcAaagtccaggacacccgttca	12	9	6	14	1	2	0	1	0	1	0	4	2	3	1	4	1	2	2	4	1	3	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:71494069A>G	uc003kbw.4	+	4	5128	c.4887A>G	c.(4885-4887)gcA>gcG	p.A1629A	MAP1B_uc010iyw.1_Silent_p.A1646A|MAP1B_uc010iyx.1_Silent_p.A1503A|MAP1B_uc010iyy.1_Silent_p.A1503A	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1629						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTAAAACTGCAAAGTCCAGGA	0.438													G	71494069	A	G	71494069	2	3	26	1	0	0	0	0	0	0	0	1	9303	117	5	3		3	MAP1B	5	71494069	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08	6727215	71494069	109421191	25	1624											
PCDHGC5	5098	broad.mit.edu	37	chr5	140857767	140857770	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															aaatctcaccttttatctacTtctttctctaatcctggttt																										TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:140857767_140857770delTTCT	uc003lkv.2	+	0	2199_2202	c.2084_2087delTTCT	c.(2083-2088)cttcttfs	p.L695fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Frame_Shift_Del_p.L695fs|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	695					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTATCTACTTCTTTCTCTAATC	0.49											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	140857770	TTCT	-	140857767	7	5	26	1	0	1	0	1	0	0	0	0	11647	1609	56	0		0	PCDHGC5	5	140857767	Frame_Shift_Del	DEL	TTCT	TCGA-06-0155-01B-01D-1492-08	69363698	140857767	40057493	26	1625											
SGCD	6444	broad.mit.edu	37	chr5	155935645	155935645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgaggatcacagaaaaagGtctaaagctagaaggagact	17	6	11	7	0	2	4	1	1	1	3	2	6	2	5	1	3	1	1	1	3	6	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:155935645G>T	uc003lwc.4	+	3	746	c.227G>T	c.(226-228)gGt>gTt	p.G76V	SGCD_uc003lwa.1_Missense_Mutation_p.G76V|SGCD_uc003lwb.3_Missense_Mutation_p.G76V|SGCD_uc003lwd.4_Missense_Mutation_p.G75V	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	75					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACAGAAAAAGGTCTAAAGCTA	0.418													T	155935645	G	T	155935645	3	4	26	1	0	0	0	0	1	0	0	0	14294	1261	44	4	237	4	SGCD	5	155935645	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	15077878	155935645	24979615	27	1626											
FLT4	2324	broad.mit.edu	37	chr5	180048669	180048669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgagcgtggcgtggcgCgccccaggtgccacctcctc	4	6	15	16	4	0	1	0	1	0	0	2	1	1	1	5	4	2	1	5	4	0	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr5:180048669C>T	uc003mlz.4	-	12	1972	c.1893G>A	c.(1891-1893)gcG>gcA	p.A631A	FLT4_uc003mma.4_Silent_p.A631A|FLT4_uc003mmb.1_Silent_p.A164A|FLT4_uc011dgy.2_Silent_p.A631A	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	631	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGCGTGGCGCGCCCCAGGTG	0.672													T	180048669	C	T	180048669	2	4	26	1	0	0	0	0	0	0	0	1	5993	755	27	1		1	FLT4	5	180048669	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	24113024	180048669	866591	28	1627											
ITPR3	3710	broad.mit.edu	37	chr6	33653882	33653882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaacttggtatgcgagaCgctgcagttcctggacatca	10	10	10	11	2	1	1	1	0	0	1	2	3	2	2	1	2	4	4	1	2	3	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:33653882C>T	uc021ywr.1	+	41	5944	c.5720C>T	c.(5719-5721)aCg>aTg	p.T1907M		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1907					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTATGCGAGACGCTGCAGTTC	0.592													T	33653882	C	T	33653882	3	4	26	1	0	0	0	0	1	0	0	0	7980	536	19	1	5886	1	ITPR3	6	33653882	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		33653882	137461185	29	1628											
GLP1R	2740	broad.mit.edu	37	chr6	39024212	39024212	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagacggtgcagaaatggCgagaataccgacgccagtgc	12	4	16	9	4	0	3	0	0	0	3	0	6	0	3	2	3	3	1	2	3	3	1	rs141990898		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:39024212C>T	uc003ooj.4	+	1	178	c.118C>T	c.(118-120)Cga>Tga	p.R40*	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	40					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled	p.R40*(2)		breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	GCAGAAATGGCGAGAATACCG	0.632													T	39024212	C	T	39024212	4	4	26	1	0	0	0	0	0	1	0	0	6508	760	27	1	124	1	GLP1R	6	39024212	Nonsense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	5370330	39024212	132090855	30	1629											
DST	667	broad.mit.edu	37	chr6	56505355	56505355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcctttgctgtacacagaAgaacattcgttccttaaggc	10	12	8	11	2	0	2	0	0	0	2	3	2	2	2	2	1	3	3	2	1	4	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:56505355A>G	uc003pcy.4	-	3	573	c.465T>C	c.(463-465)tcT>tcC	p.S155S	DST_uc021zay.1_Silent_p.S521S|DST_uc011dxl.1_Silent_p.S510S|DST_uc021zax.1_Silent_p.S155S|DST_uc003pdc.4_Silent_p.S155S|DST_uc003pdd.4_Silent_p.S155S|DST_uc003pde.2_Silent_p.S597S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	481	Actin-binding.|CH 2.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.S155P(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGTACACAGAAGAACATTCGT	0.393													G	56505355	A	G	56505355	2	3	26	1	0	0	0	0	0	0	0	1	4822	59	3	3		3	DST	6	56505355	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08	17481143	56505355	114609712	31	1630											
HSF2	3298	broad.mit.edu	37	chr6	122744040	122744040	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctcatccagtctgacCtcagaagatccagtgaccat	12	9	8	12	0	3	4	2	2	1	2	5	4	5	4	4	1	0	1	4	1	2	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:122744040C>A	uc003pyu.2	+	8	1195	c.1008C>A	c.(1006-1008)acC>acA	p.T336T	HSF2_uc003pyv.2_Silent_p.T336T	NM_004506	NP_004497	Q03933	HSF2_HUMAN	Homo sapiens heat shock transcription factor 2 (HSF2), transcript variant 1, mRNA.	336					response to stress|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			large_intestine(4)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(136;0.00371)|all cancers(137;0.0299)|GBM - Glioblastoma multiforme(226;0.0586)		CCAGTCTGACCTCAGAAGATC	0.433													A	122744040	C	A	122744040	2	1	26	1	0	0	0	0	0	0	0	1	7451	668	24	4		4	HSF2	6	122744040	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	66238685	122744040	48371027	32	1631											
QKI	9444	broad.mit.edu	37	chr6	163899861	163899861	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggacttacagccaaacAacttgaagcagaaaccggat	17	6	9	9	1	0	3	0	1	0	2	0	5	0	5	2	2	6	1	2	2	6	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr6:163899861A>C	uc003qui.3	+	2	886	c.335A>C	c.(334-336)cAa>cCa	p.Q112P	QKI_uc003quj.3_Missense_Mutation_p.Q112P|QKI_uc003quh.3_Missense_Mutation_p.Q112P|QKI_uc003que.3_Missense_Mutation_p.Q112P|QKI_uc003quf.3_Missense_Mutation_p.Q112P|QKI_uc003qug.3_Missense_Mutation_p.Q112P	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	112	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		ACAGCCAAACAACTTGAAGCA	0.368													C	163899861	A	C	163899861	3	2	26	1	0	0	0	0	1	0	0	0	12961	130	5	5	345	5	QKI	6	163899861	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	41155821	163899861	7215206	33	1632											
HNRNPA2B1	3181	broad.mit.edu	37	chr7	26236176	26236178	+	Splice_Site	DEL	CCT	CCT	-																															aagaaacagaattaaaattaCctcctcttccactcctagaa																										TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:26236176_26236178delCCT	uc003sxr.4	-	6	829	c.613_splice	c.e6+1	p.G205_splice	HNRNPA2B1_uc003sxs.4_Splice_Site_p.G193_splice	NM_031243	NP_112533	P22626	ROA2_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein A2/B1 (HNRNPA2B1), transcript variant B1, mRNA.	205	Gly-rich.			G -> S (in Ref. 4; BAF82118).	RNA transport	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|RNA binding|single-stranded telomeric DNA binding		HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						ATTAAAATTACCTCCTCTTCCAC	0.379			T	ETV1	prostate								-	26236178	CCT	-	26236176	8	5	26	1	0	1	0	1	0	0	1	0	7314	521	18	0	471	0	HNRNPA2B1	7	26236176	Splice_Site	DEL	CCT	TCGA-06-0155-01B-01D-1492-08		26236176	132902487	34	1633											
EGFR	1956	broad.mit.edu	37	chr7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattatgtggtgacagatCacggctcgtgcgtccgagcc	8	10	13	10	4	1	2	1	1	0	1	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223543	C	T	55223543	3	4	26	1	0	0	0	0	1	0	0	0	5006	826	29	2	940	2	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	28987367	55223543	103915120	35	1634											
TPST1	8460	broad.mit.edu	37	chr7	65751542	65751542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcaagccagtcaatgtagGagctctatcaaaatgggttg	14	10	10	7	0	4	0	3	0	1	0	4	1	4	1	1	2	2	3	1	2	7	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:65751542G>A	uc003tuw.3	+	2	1242	c.890G>A	c.(889-891)gGa>gAa	p.G297E	TPST1_uc010kzy.2_Non-coding_Transcript	NM_003596	NP_003587	O60507	TPST1_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 1 (TPST1), mRNA.	297					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GTCAATGTAGGAGCTCTATCA	0.373													A	65751542	G	A	65751542	3	1	26	1	0	0	0	0	1	0	0	0	16528	1174	41	2	896	2	TPST1	7	65751542	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	10527999	65751542	93387121	36	1635											
SRPK2	6733	broad.mit.edu	37	chr7	104782641	104782641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcgggaattttatgtcGtccatttggcaattcaccat	9	15	8	9	2	1	1	1	1	0	0	4	2	2	2	2	2	0	1	2	2	3	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:104782641G>A	uc003vct.3	-	9	1511	c.1324C>T	c.(1324-1326)Cga>Tga	p.R442*	SRPK2_uc003vcu.3_Nonsense_Mutation_p.R442*|SRPK2_uc003vcv.3_Nonsense_Mutation_p.R453*|SRPK2_uc003vcw.1_Nonsense_Mutation_p.R442*	NM_182691	NP_872633	P78362	SRPK2_HUMAN	Homo sapiens SRSF protein kinase 2 (SRPK2), transcript variant 2, mRNA.	442	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						ATTTTATGTCGTCCATTTGGC	0.448													A	104782641	G	A	104782641	4	1	26	1	0	0	0	0	0	1	0	0	15256	1153	40	1	766	1	SRPK2	7	104782641	Nonsense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	39031099	104782641	54356022	37	1636											
GPR37	2861	broad.mit.edu	37	chr7	124404927	124404927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccccagacaagtttcgtttCtggacgcaggggcgaccccg	7	7	12	15	4	1	1	0	0	1	1	2	3	1	2	4	3	0	3	4	3	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr7:124404927C>G	uc003vli.3	-	0	755	c.104G>C	c.(103-105)aGa>aCa	p.R35T		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	35						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGTTTCGTTTCTGGACGCAGG	0.647													G	124404927	C	G	124404927	3	3	26	1	0	0	0	0	1	0	0	0	6745	913	32	4	1745	4	GPR37	7	124404927	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	19622286	124404927	34733736	38	1637											
FGL1	2267	broad.mit.edu	37	chr8	17726189	17726189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggatgaaaattccccGcaagggaatctccagctgtt	11	9	9	12	1	2	1	1	1	1	0	4	3	3	3	4	2	1	3	4	2	4	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:17726189G>A	uc003wye.3	-	8	1463	c.797C>T	c.(796-798)gCg>gTg	p.A266V	FGL1_uc003wxx.3_Missense_Mutation_p.A216V|FGL1_uc003wxy.3_Missense_Mutation_p.A216V|FGL1_uc003wya.3_Missense_Mutation_p.A216V|FGL1_uc003wyb.3_Missense_Mutation_p.A216V	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	216	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.L266L(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		AAAATTCCCCGCAAGGGAATC	0.453													A	17726189	G	A	17726189	3	1	26	1	0	0	0	0	1	0	0	0	5921	1087	38	1	299	1	FGL1	8	17726189	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		17726189	128637833	39	1638											
DOCK5	80005	broad.mit.edu	37	chr8	25222153	25222153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgcagggtttttctccGtgctataaatcagtttgctg	6	16	9	10	2	2	0	1	0	1	0	4	0	3	0	2	1	2	5	2	1	3	6	rs148483229	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:25222153G>A	uc003xeg.3	+	29	3193	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R733H|DOCK5_uc003xei.3_Missense_Mutation_p.R589H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1019						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GTTTTTCTCCGTGCTATAAAT	0.413													A	25222153	G	A	25222153	3	1	26	1	0	0	0	0	1	0	0	0	4729	1145	40	1	3174	1	DOCK5	8	25222153	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	7495964	25222153	121141869	40	1639											
PCMTD1	115294	broad.mit.edu	37	chr8	52733157	52733157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttaactctctttcttttCcttttgggtggagccctttg	3	21	8	9	0	2	0	0	0	2	0	4	1	3	1	2	2	2	1	2	2	1	8			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:52733157C>A	uc003xqx.4	-	5	1169	c.828G>T	c.(826-828)agG>agT	p.R276S	PCMTD1_uc011ldm.2_Missense_Mutation_p.R146S|PCMTD1_uc011ldn.2_Missense_Mutation_p.R88S|PCMTD1_uc010lya.3_Missense_Mutation_p.R200S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	276						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				TCTTTCTTTTCCTTTTGGGTG	0.408													A	52733157	C	A	52733157	3	1	26	1	0	0	0	0	1	0	0	0	11662	854	30	4	249	4	PCMTD1	8	52733157	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	27511004	52733157	93630865	41	1640											
STK3	6788	broad.mit.edu	37	chr8	99718703	99718703	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	taattttcttaccctcattgGatgtatatcagcataaggag	12	15	7	7	0	3	0	2	0	1	0	3	2	3	2	1	2	2	2	1	2	5	8			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:99718703G>C	uc003yio.3	-	7	1234	c.760C>G	c.(760-762)Cca>Gca	p.P254A	STK3_uc003yip.3_Missense_Mutation_p.P226A|STK3_uc010mbm.1_Intron	NM_006281	NP_006272	Q13188	STK3_HUMAN	Homo sapiens serine/threonine kinase 3 (STK3), transcript variant 1, mRNA.	226	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		ACCCTCATTGGATGTATATCA	0.348													C	99718703	G	C	99718703	3	2	26	1	0	0	0	0	1	0	0	0	15391	1174	41	4	823	4	STK3	8	99718703	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	46985546	99718703	46645319	42	1641											
ATAD2	29028	broad.mit.edu	37	chr8	124358469	124358469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcctggttctcctactaTcaatattcttggtcgaaaag	12	14	6	9	1	3	0	1	0	2	0	6	1	4	0	2	2	1	1	2	2	7	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:124358469T>C	uc003yqh.4	-	17	2497	c.2389A>G	c.(2389-2391)Ata>Gta	p.I797V	ATAD2_uc011lii.2_Missense_Mutation_p.I588V|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.I797V	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	797					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TCTCCTACTATCAATATTCTT	0.353													C	124358469	T	C	124358469	3	2	26	1	0	0	0	0	1	0	0	0	1076	1435	50	3	1827	3	ATAD2	8	124358469	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	24639766	124358469	22005553	43	1642											
SPATC1	375686	broad.mit.edu	37	chr8	145095497	145095497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactgagcccccccagtcGacccaggacccagagcctct	8	5	8	20	1	1	2	0	1	1	1	3	4	2	3	7	1	2	0	7	1	0	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr8:145095497G>A	uc011lkw.2	+	2	897	c.795G>A	c.(793-795)tcG>tcA	p.S265S	SPATC1_uc011lkx.2_Silent_p.S265S	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	265										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCCAGTCGACCCAGGACC	0.617													A	145095497	G	A	145095497	2	1	26	1	0	0	0	0	0	0	0	1	15113	1045	37	1		1	SPATC1	8	145095497	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	20737028	145095497	1268525	44	1643											
PRKCQ	5588	broad.mit.edu	37	chr10	6553040	6553040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagagatgaggtccaCgtttttgcctttcacaatga	9	14	10	8	1	2	3	2	2	0	1	3	4	3	3	2	2	1	2	2	2	1	4	rs148376969		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:6553040C>T	uc001iji.1	-	1	418	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	PRKCQ_uc001ijj.2_Missense_Mutation_p.V79M|PRKCQ_uc009xim.2_Missense_Mutation_p.V79M|PRKCQ_uc009xin.2_Missense_Mutation_p.V43M|PRKCQ_uc010qax.2_5'UTR	NM_006257	NP_006248	Q04759	KPCT_HUMAN	Homo sapiens protein kinase C, theta (PRKCQ), transcript variant 1, mRNA.	79	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity	p.Q112E(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATGAGGTCCACGTTTTTGCCT	0.478													T	6553040	C	T	6553040	3	4	26	1	0	0	0	0	1	0	0	0	12601	536	19	1	1949	1	PRKCQ	10	6553040	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		6553040	128981707	45	1644											
USP6NL	9712	broad.mit.edu	37	chr10	11505268	11505268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagctccgggcctggcacGttgtcgtactgcgatgcagt	5	10	13	13	4	0	0	0	0	0	0	3	1	2	0	3	2	4	5	3	2	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:11505268G>A	uc001iks.1	-	13	1753	c.1710C>T	c.(1708-1710)aaC>aaT	p.N570N	USP6NL_uc001ikt.3_Silent_p.N553N	NM_001080491	NP_001073960	Q92738	US6NL_HUMAN	Homo sapiens USP6 N-terminal like (USP6NL), transcript variant 2, mRNA.	553						intracellular	Rab GTPase activator activity	p.N570N(2)		endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						GGCCTGGCACGTTGTCGTACT	0.662													A	11505268	G	A	11505268	2	1	26	1	0	0	0	0	0	0	0	1	17189	1136	40	1		1	USP6NL	10	11505268	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	4952228	11505268	124029479	46	1645											
PPP3CB	5532	broad.mit.edu	37	chr10	75204531	75204531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacactccactaggcaacaTccctgtgggagtcaggccct	10	8	9	14	0	1	0	1	0	0	0	3	1	3	1	3	3	2	1	3	3	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:75204531T>A	uc001juf.3	-	11	1456	c.1321A>T	c.(1321-1323)Atg>Ttg	p.M441L	PPP3CB_uc001jue.3_Missense_Mutation_p.M440L|PPP3CB_uc001jug.3_Missense_Mutation_p.M441L|PPP3CB_uc001juh.2_Missense_Mutation_p.M355L|PPP3CB_uc001jui.2_Missense_Mutation_p.M458L|PPP3CB_uc010qkj.2_Missense_Mutation_p.M68L	NM_001142353	NP_001135825	P16298	PP2BB_HUMAN	Homo sapiens protein phosphatase 3, catalytic subunit, beta isozyme (PPP3CB), transcript variant 1, mRNA.	440										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					CTAGGCAACATCCCTGTGGGA	0.483													A	75204531	T	A	75204531	3	1	26	1	0	0	0	0	1	0	0	0	12480	1435	50	5	268	5	PPP3CB	10	75204531	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	63699263	75204531	60330216	47	1646											
PTEN	5728	broad.mit.edu	37	chr10	89692922	89692922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaactggtgtaatgataTgtgcatatttattacatcgg	12	14	10	5	2	0	1	0	1	0	0	1	3	0	1	0	2	3	2	0	2	6	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:89692922T>C	uc001kfb.3	+	4	1438	c.406T>C	c.(406-408)Tgt>Cgt	p.C136R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136R(9)|p.C136Y(8)|p.I135fs*44(6)|p.C136F(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTAATGATATGTGCATATTT	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692922	T	C	89692922	3	2	26	1	0	0	0	0	1	0	0	0	12823	1464	51	3	424	3	PTEN	10	89692922	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08	14488391	89692922	45841825	48	1647											
MMP21	118856	broad.mit.edu	37	chr10	127456157	127456157	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggtcataaaacgccgtgtCtaggggacttgggatgccag	9	9	14	9	3	2	0	1	0	1	0	3	2	2	2	2	4	2	0	2	4	3	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr10:127456157C>G	uc001liu.3	-	5	1354	c.1354G>C	c.(1354-1356)Gac>Cac	p.D452H		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	452	Hemopexin-like 3.				proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACGCCGTGTCTAGGGGACTT	0.443													G	127456157	C	G	127456157	3	3	26	1	0	0	0	0	1	0	0	0	9735	913	32	4	363	4	MMP21	10	127456157	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	37763235	127456157	8078590	49	1648											
OR52E6	390078	broad.mit.edu	37	chr11	5862602	5862602	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagtaagtatgagggaTgatacgatgtccacagaagg	14	8	12	7	1	1	3	1	2	0	1	2	5	2	4	1	2	1	2	1	2	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:5862602T>G	uc010qzq.2	-	0	526	c.526A>C	c.(526-528)Atc>Ctc	p.I176L	TRIM5_uc001mbq.1_Intron	NM_001005167	NP_001005167	Q96RD3	O52E6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 6 (OR52E6), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTATGAGGGATGATACGATGT	0.483													G	5862602	T	G	5862602	3	3	26	1	0	0	0	0	1	0	0	0	11193	1464	51	5	417	5	OR52E6	11	5862602	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		5862602	129143914	50	1649											
CD44	960	broad.mit.edu	37	chr11	35232846	35232846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatcattctgaaggctcaActactttactggaaggttat	13	13	7	8	0	3	1	2	1	1	0	3	2	3	2	0	3	3	2	0	3	7	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:35232846A>G	uc001mvu.3	+	13	2094	c.1660A>G	c.(1660-1662)Act>Gct	p.T554A	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Missense_Mutation_p.T511A|CD44_uc001mvw.3_Missense_Mutation_p.T305A|CD44_uc001mwc.4_Missense_Mutation_p.T241A|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Missense_Mutation_p.T82A|CD44_uc010res.2_Missense_Mutation_p.T118A|CD44_uc010ret.2_Non-coding_Transcript	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	554	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TGAAGGCTCAACTACTTTACT	0.463													G	35232846	A	G	35232846	3	3	26	1	0	0	0	0	1	0	0	0	3047	43	2	3	1714	3	CD44	11	35232846	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	29370244	35232846	99773670	51	1650											
SLC22A9	114571	broad.mit.edu	37	chr11	63149746	63149746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctccctcctgtcctttaCgaggtaagcttcatgcagtg	7	13	9	12	1	2	0	1	0	1	0	5	2	4	0	3	1	3	3	3	1	2	4	rs141060614		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:63149746C>T	uc001nww.3	+	5	1338	c.1070C>T	c.(1069-1071)aCg>aTg	p.T357M	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	357					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CTGTCCTTTACGAGGTAAGCT	0.403													T	63149746	C	T	63149746	3	4	26	1	0	0	0	0	1	0	0	0	14555	536	19	1	1092	1	SLC22A9	11	63149746	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	27916900	63149746	71856770	52	1651											
HTR3A	3359	broad.mit.edu	37	chr11	113853886	113853886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcccgtacgtgtatattcGgcatcaaggcgaagttcaga	11	11	10	9	4	2	1	2	0	0	1	4	2	3	1	1	2	1	4	1	2	6	6	rs149715642		TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr11:113853886G>A	uc010rxb.2	+	4	670	c.437G>A	c.(436-438)cGg>cAg	p.R146Q	HTR3A_uc010rxa.2_Missense_Mutation_p.R146Q|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Missense_Mutation_p.R125Q	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	140					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GTGTATATTCGGCATCAAGGC	0.542													A	113853886	G	A	113853886	3	1	26	1	0	0	0	0	1	0	0	0	7502	1116	39	1	481	1	HTR3A	11	113853886	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	50704140	113853886	21152630	53	1652											
CACNA1C	775	broad.mit.edu	37	chr12	2566754	2566754	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttttagtgcaattttagaAcaagcaaccaaagcagatgg	15	11	8	7	0	0	2	0	0	0	2	0	2	0	2	1	1	5	3	1	1	7	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:2566754A>G	uc009zdu.1	+	4	952	c.639A>G	c.(637-639)gaA>gaG	p.E213E	CACNA1C_uc001qkc.2_Silent_p.E213E|CACNA1C_uc001qjz.2_Silent_p.E213E|CACNA1C_uc001qkd.2_Silent_p.E213E|CACNA1C_uc001qke.2_Silent_p.E213E|CACNA1C_uc001qkf.2_Silent_p.E213E|CACNA1C_uc009zdw.1_Silent_p.E213E|CACNA1C_uc001qkg.2_Silent_p.E213E|CACNA1C_uc001qkh.2_Silent_p.E213E|CACNA1C_uc001qkl.2_Silent_p.E213E|CACNA1C_uc001qkj.2_Silent_p.E213E|CACNA1C_uc001qkk.2_Silent_p.E213E|CACNA1C_uc001qkn.2_Silent_p.E213E|CACNA1C_uc001qkm.2_Silent_p.E213E|CACNA1C_uc001qko.2_Silent_p.E213E|CACNA1C_uc001qkp.2_Silent_p.E213E|CACNA1C_uc001qkq.2_Silent_p.E213E|CACNA1C_uc001qku.2_Silent_p.E213E|CACNA1C_uc001qkr.2_Silent_p.E213E|CACNA1C_uc001qks.2_Silent_p.E213E|CACNA1C_uc001qkt.2_Silent_p.E213E|CACNA1C_uc009zdv.1_Silent_p.E213E|CACNA1C_uc001qkb.2_Silent_p.E213E|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_5'UTR	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	213					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAATTTTAGAACAAGCAACCA	0.557													G	2566754	A	G	2566754	2	3	26	1	0	0	0	0	0	0	0	1	2566	40	2	3		3	CACNA1C	12	2566754	Silent	SNP	A	TCGA-06-0155-01B-01D-1492-08		2566754	131285141	54	1653											
PPFIBP1	8496	broad.mit.edu	37	chr12	27809558	27809558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtaacttgtaggatgaactgGcatctttaaaagaacaacta	16	11	8	6	0	1	2	0	1	1	1	1	3	1	3	0	2	4	3	0	2	8	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:27809558G>A	uc001ric.2	+	9	1176	c.799G>A	c.(799-801)Gca>Aca	p.A267T	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A95T|PPFIBP1_uc001rib.2_Missense_Mutation_p.A236T|PPFIBP1_uc001ria.3_Missense_Mutation_p.A236T|PPFIBP1_uc001rid.2_Missense_Mutation_p.A114T|PPFIBP1_uc001rie.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	267					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GGATGAACTGGCATCTTTAAA	0.323													A	27809558	G	A	27809558	3	1	26	1	0	0	0	0	1	0	0	0	12390	1203	42	2	774	2	PPFIBP1	12	27809558	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	25242804	27809558	106042337	55	1654											
MDM2	4193	broad.mit.edu	37	chr12	69210697	69210697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggagatttgtttggcGtgccaagcttctctgtgaaa	8	15	11	7	1	2	2	0	1	2	1	3	3	2	2	1	2	2	2	1	2	3	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:69210697G>A	uc021rad.1	+						MDM2_uc001sui.3_Missense_Mutation_p.V94M|MDM2_uc009zqx.3_Missense_Mutation_p.V94M|MDM2_uc009zqy.1_Missense_Mutation_p.V83M|MDM2_uc021rae.1_Missense_Mutation_p.V83M|MDM2_uc001sun.4_Intron|MDM2_uc009zra.3_Intron|MDM2_uc009zrb.1_Non-coding_Transcript|MDM2_uc021raf.1_Intron|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Intron|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Intron|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Intron|MDM2_uc021rag.1_Non-coding_Transcript|MDM2_uc021rah.1_Missense_Mutation_p.V58M|MDM2_uc021rai.1_Intron|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.						cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTTGTTTGGCGTGCCAAGCTT	0.363			A		"sarcoma, glioma, colorectal, other"								A	69210697	G	A	69210697	3	1	26	1	0	0	0	0	1	0	0	0	9488	1145	40	1	294	1	MDM2	12	69210697	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	41401139	69210697	64641198	56	1655											
TPH2	121278	broad.mit.edu	37	chr12	72366329	72366329	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccagggtggagtatacTgaagaagaaactaaaacttg	16	9	10	6	0	0	3	0	1	0	2	1	4	1	4	1	2	3	1	1	2	7	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:72366329T>A	uc009zrw.1	+	5	780	c.639T>A	c.(637-639)acT>acA	p.T213T	TPH2_uc001swy.2_Silent_p.T123T	NM_173353	NP_775489	Q8IWU9	TPH2_HUMAN	Homo sapiens tryptophan hydroxylase 2 (TPH2), mRNA.	213					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TGGAGTATACTGAAGAAGAAA	0.428													A	72366329	T	A	72366329	2	1	26	1	0	0	0	0	0	0	0	1	16503	1567	55	5		5	TPH2	12	72366329	Silent	SNP	T	TCGA-06-0155-01B-01D-1492-08	3155632	72366329	61485566	57	1656											
MYF5	4617	broad.mit.edu	37	chr12	81111228	81111228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcctcaggaatgccatccGctacatcgagagcctgcagg	10	7	11	13	2	1	1	1	0	0	1	4	4	3	2	4	2	4	2	4	2	2	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:81111228G>A	uc001szg.2	+	0	521	c.386G>A	c.(385-387)cGc>cAc	p.R129H		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R129S(1)|p.R129C(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AATGCCATCCGCTACATCGAG	0.587													A	81111228	G	A	81111228	3	1	26	1	0	0	0	0	1	0	0	0	10103	1087	38	1	388	1	MYF5	12	81111228	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	8744899	81111228	52740667	58	1657											
STAB2	55576	broad.mit.edu	37	chr12	104089589	104089589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacaacaatgccatcgaGaattacatcagggagaagaa	19	5	8	9	1	1	3	1	0	0	3	2	5	1	3	2	1	4	0	2	1	7	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:104089589G>T	uc001tjw.3	+	32	3735	c.3549G>T	c.(3547-3549)gaG>gaT	p.E1183D		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1183	FAS1 4.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGCCATCGAGAATTACATCA	0.403													T	104089589	G	T	104089589	3	4	26	1	0	0	0	0	1	0	0	0	15334	933	33	4	3679	4	STAB2	12	104089589	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	22978361	104089589	29762306	59	1658											
LHX5	64211	broad.mit.edu	37	chr12	113905175	113905175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctccgggcgcctagggCgctcagctgtttcatccggc	3	9	14	15	4	2	0	2	0	0	0	4	0	4	0	4	3	2	3	4	3	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:113905175C>T	uc001tvj.1	-	3	1301	c.727G>A	c.(727-729)Gcc>Acc	p.A243T		NM_022363	NP_071758	Q9H2C1	LHX5_HUMAN	Homo sapiens LIM homeobox 5 (LHX5), mRNA.	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						GCGCCTAGGGCGCTCAGCTGT	0.652													T	113905175	C	T	113905175	3	4	26	1	0	0	0	0	1	0	0	0	8834	768	27	1	489	1	LHX5	12	113905175	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	9815586	113905175	19946720	60	1659											
RIMBP2	23504	broad.mit.edu	37	chr12	130927111	130927111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagttctgatcctgctcGttccccagcgtgcttgccaa	7	12	9	13	2	1	2	0	2	1	0	4	2	3	2	4	0	4	4	4	0	2	3	rs142303116	byFrequency	TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr12:130927111G>A	uc001uil.2	-	7	951	c.735C>T	c.(733-735)aaC>aaT	p.N245N	RIMBP2_uc001uim.3_Silent_p.N153N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	245						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GATCCTGCTCGTTCCCCAGCG	0.602													A	130927111	G	A	130927111	2	1	26	1	0	0	0	0	0	0	0	1	13452	1136	40	1		1	RIMBP2	12	130927111	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	17021936	130927111	2924784	61	1660											
COG6	57511	broad.mit.edu	37	chr13	40293942	40293942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaattcactgacagacGtctggaaatgctacagtttc	12	13	8	8	1	2	3	1	2	1	1	3	4	2	4	0	1	2	2	0	1	3	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr13:40293942G>A	uc001uxh.2	+	14	1662	c.1562G>A	c.(1561-1563)cGt>cAt	p.R521H	COG6_uc001uxi.2_Missense_Mutation_p.R469H|COG6_uc010acb.2_Missense_Mutation_p.R521H	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	521					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		ACTGACAGACGTCTGGAAATG	0.343													A	40293942	G	A	40293942	3	1	26	1	0	0	0	0	1	0	0	0	3693	1145	40	1	1620	1	COG6	13	40293942	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		40293942	74875936	62	1661											
FANCM	57697	broad.mit.edu	37	chr14	45657010	45657010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagagctatttacatgAaatctttgcgtagtccaatg	14	13	8	6	1	1	2	0	2	1	1	2	3	2	2	1	0	3	2	1	0	6	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:45657010A>G	uc001wwd.4	+	18	4798	c.4699A>G	c.(4699-4701)Aaa>Gaa	p.K1567E	FANCM_uc010anf.3_Missense_Mutation_p.K1541E|FANCM_uc001wwe.4_Missense_Mutation_p.K1103E|FANCM_uc010ang.3_Missense_Mutation_p.K781E	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1567					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTTACATGAAATCTTTGCG	0.254								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	45657010	A	G	45657010	3	3	26	1	0	0	0	0	1	0	0	0	5720	247	9	3	4773	3	FANCM	14	45657010	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		45657010	61692530	63	1662											
TBPL2	387332	broad.mit.edu	37	chr14	55907173	55907173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctgctccatggaccGtaatcccactgttgggggtg	5	11	11	14	1	0	0	0	0	0	0	4	1	4	1	5	3	1	3	5	3	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr14:55907173G>A	uc001xby.3	-	0	91	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W		NM_199047	NP_950248	Q6SJ96	TBPL2_HUMAN	Homo sapiens TATA box binding protein like 2 (TBPL2), mRNA.	31			R -> P (in dbSNP:rs8019270).		multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						TCCATGGACCGTAATCCCACT	0.657													A	55907173	G	A	55907173	3	1	26	1	0	0	0	0	1	0	0	0	15746	1144	40	1	1064	1	TBPL2	14	55907173	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	10250163	55907173	51442367	64	1663											
EHD4	30844	broad.mit.edu	37	chr15	42193062	42193062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatctccttcttggcGttgacacctgatatcttgcc	6	14	7	14	1	4	2	1	2	3	0	5	2	4	2	4	1	1	1	4	1	1	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592													A	42193062	G	A	42193062	2	1	26	1	0	0	0	0	0	0	0	1	5019	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08		42193062	60338330	65	1664											
RAB11FIP3	9727	broad.mit.edu	37	chr16	553082	553082	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggagggcccagaggaGgacattgctgacaaggtagg	11	6	16	8	0	1	2	1	1	0	1	1	5	1	5	1	6	1	2	1	6	2	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:553082G>A	uc002chf.3	+	6	1719	c.1380G>A	c.(1378-1380)gaG>gaA	p.E460E	RAB11FIP3_uc010uuf.2_Silent_p.E164E|RAB11FIP3_uc010uug.2_Silent_p.E195E	NM_014700	NP_055515	O75154	RFIP3_HUMAN	Homo sapiens RAB11 family interacting protein 3 (class II) (RAB11FIP3), transcript variant 1, mRNA.	460					cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCCCAGAGGAGGACATTGCTG	0.622													A	553082	G	A	553082	2	1	26	1	0	0	0	0	0	0	0	1	12983	991	35	2		2	RAB11FIP3	16	553082	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08		553082	89801671	66	1665											
SCNN1G	6340	broad.mit.edu	37	chr16	23226531	23226531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctatcattgcccgccGccagtggcagaaagccaagg	9	8	10	14	2	2	1	1	0	1	1	3	1	2	1	4	2	2	1	4	2	3	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:23226531G>A	uc002dlm.1	+	12	1830	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	564					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding	p.R564H(2)		NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	ATTGCCCGCCGCCAGTGGCAG	0.587													A	23226531	G	A	23226531	3	1	26	1	0	0	0	0	1	0	0	0	14023	1087	38	1	1737	1	SCNN1G	16	23226531	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	22673449	23226531	67128222	67	1666											
CES1	1066	broad.mit.edu	37	chr16	55853460	55853460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctaccattttcaatgtcGtctccaagagctcctcttcc	9	13	4	15	1	3	1	1	0	2	1	7	1	5	1	5	0	3	1	5	0	4	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr16:55853460G>A	uc002eim.3	-	6	998	c.890C>T	c.(889-891)aCg>aTg	p.T297M	CES1_uc002eil.3_Missense_Mutation_p.T298M|CES1_uc002ein.3_Missense_Mutation_p.T297M	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	297					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTTCAATGTCGTCTCCAAGAG	0.507													A	55853460	G	A	55853460	3	1	26	1	0	0	0	0	1	0	0	0	3299	1145	40	1	845	1	CES1	16	55853460	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08	32626929	55853460	34501293	68	1667											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:38240101G>A	uc021twy.1	+	4	792	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_uc010cwp.1_Missense_Mutation_p.R79H|THRA_uc002htv.3_Missense_Mutation_p.R79H|THRA_uc002htw.3_Missense_Mutation_p.R79H|THRA_uc002htx.3_Missense_Mutation_p.R79H	NM_001190919	NP_003241	P10827	THA_HUMAN	Homo sapiens thyroid hormone receptor, alpha (THRA), transcript variant 4, mRNA.	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(3)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													A	38240101	G	A	38240101	3	1	26	1	0	0	0	0	1	0	0	0	15973	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		38240101	42955109	69	1668											
ASPSCR1	79058	broad.mit.edu	37	chr17	79953896	79953896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgccctgcggggcaCgacgctgcagtcgctgggcc	5	6	16	14	4	0	1	0	1	0	0	1	2	0	1	2	3	4	5	2	3	1	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr17:79953896C>T	uc002kcy.3	+	5	558	c.461C>T	c.(460-462)aCg>aTg	p.T154M	ASPSCR1_uc002kcx.3_Missense_Mutation_p.T154M|ASPSCR1_uc021ufj.1_Missense_Mutation_p.T77M|ASPSCR1_uc002kda.3_Missense_Mutation_p.T77M|ASPSCR1_uc002kdb.1_Missense_Mutation_p.T77M	NM_001251888	NP_001238817	Q9BZE9	ASPC1_HUMAN	Homo sapiens alveolar soft part sarcoma chromosome region, candidate 1 (ASPSCR1), transcript variant 2, mRNA.	154							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGCGGGGCACGACGCTGCAG	0.657			T	TFE3	alveolar soft part sarcoma								T	79953896	C	T	79953896	3	4	26	1	0	0	0	0	1	0	0	0	1064	536	19	1	483	1	ASPSCR1	17	79953896	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	41713795	79953896	1241314	70	1669											
MIB1	57534	broad.mit.edu	37	chr18	19345780	19345780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacctgccgccagcaaccaAtcattggcattcgatggaag	12	8	9	12	2	1	0	1	0	0	0	2	2	1	1	4	2	4	2	4	2	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:19345780A>G	uc002ktq.3	+	1	277	c.277A>G	c.(277-279)Atc>Gtc	p.I93V	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	93					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CCAGCAACCAATCATTGGCAT	0.378													G	19345780	A	G	19345780	3	3	26	1	0	0	0	0	1	0	0	0	9641	101	4	3	283	3	MIB1	18	19345780	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		19345780	58731468	71	1670											
LMAN1	3998	broad.mit.edu	37	chr18	57022801	57022801	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcaacttcccagttctCaaaggccgcttttgtctttg	7	14	6	14	1	3	0	2	0	2	0	5	0	4	0	3	1	1	2	3	1	2	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr18:57022801C>A	uc002lhz.3	-	1	336	c.304G>T	c.(304-306)Gag>Tag	p.E102*	LMAN1_uc010xek.1_Nonsense_Mutation_p.E102*	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	102	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCCCAGTTCTCAAAGGCCGCT	0.413													A	57022801	C	A	57022801	4	1	26	1	0	0	0	0	0	1	0	0	8897	835	29	4	1276	4	LMAN1	18	57022801	Nonsense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	37677021	57022801	21054447	72	1671											
MUM1	84939	broad.mit.edu	37	chr19	1357015	1357015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttaaatgtaggttttggCccgaaccgcgacttcaacaa	11	12	9	9	3	1	0	1	0	0	0	1	2	1	0	2	2	2	3	2	2	6	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:1357015C>T	uc002lrz.2	+	2	178	c.68C>T	c.(67-69)gCc>gTc	p.A23V	MUM1_uc010dsi.2_5'UTR|MUM1_uc002lsb.2_5'UTR|MUM1_uc010xgm.1_Missense_Mutation_p.A22V|MUM1_uc002lsc.1_5'Flank	NM_032853	NP_116242	Q2TAK8	MUM1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1 (MUM1), transcript variant 1, mRNA.	22					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		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;0.000172)|Hepatocellular(1079;0.137)		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)		TAGGTTTTGGCCCGAACCGCG	0.368													T	1357015	C	T	1357015	3	4	26	1	0	0	0	0	1	0	0	0	10061	739	26	2	74	2	MUM1	19	1357015	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08		1357015	57771968	73	1672											
CD209	30835	broad.mit.edu	37	chr19	7807928	7807928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggggtgaagttctgctaCgcaggaggggggtttggggt	7	9	21	4	1	1	1	0	1	1	0	1	2	1	2	0	8	2	4	0	8	3	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:7807928C>T	uc002mht.2	-	6	1279	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A	CD209_uc010xju.1_Silent_p.A243A|CD209_uc010dvp.2_3'UTR|CD209_uc002mhr.2_Silent_p.A380A|CD209_uc002mhs.2_Silent_p.A334A|CD209_uc002mhu.2_Silent_p.A312A|CD209_uc010dvq.2_Silent_p.A398A|CD209_uc002mhq.2_Silent_p.A404A|CD209_uc002mhv.2_Silent_p.A380A|CD209_uc002mhx.2_Silent_p.A360A|CD209_uc002mhw.2_Silent_p.A268A|CD209_uc010dvr.2_Silent_p.A168A	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	404					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A404A(3)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGTTCTGCTACGCAGGAGGGG	0.502													T	7807928	C	T	7807928	2	4	26	1	0	0	0	0	0	0	0	1	3014	523	19	1		1	CD209	19	7807928	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08	6450913	7807928	51321055	74	1673											
AKAP8	10270	broad.mit.edu	37	chr19	15484143	15484143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactcgaacggctggaagCggaaggagctgcaacagaag	14	3	16	8	3	0	1	0	0	0	1	1	6	0	5	0	5	5	3	0	5	5	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:15484143C>T	uc002nav.3	-	4	450	c.380G>A	c.(379-381)cGc>cAc	p.R127H	AKAP8_uc010dzy.3_5'UTR|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_5'UTR	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	127					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGGCTGGAAGCGGAAGGAGCT	0.607													T	15484143	C	T	15484143	3	4	26	1	0	0	0	0	1	0	0	0	457	768	27	1	1738	1	AKAP8	19	15484143	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	7676215	15484143	43644840	75	1674											
OR10H4	126541	broad.mit.edu	37	chr19	16060302	16060302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggggatgatggtgacaaCgatagttttccacctcactt	10	12	10	9	1	1	2	1	2	0	0	2	4	2	3	2	3	1	1	2	3	2	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:16060302C>T	uc010xov.2	+	0	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001004465	NP_001004465	Q8NGA5	O10H4_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 4 (OR10H4), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T162T(1)		breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						ATGGTGACAACGATAGTTTTC	0.502													T	16060302	C	T	16060302	3	4	26	1	0	0	0	0	1	0	0	0	10984	536	19	1	487	1	OR10H4	19	16060302	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	576159	16060302	43068681	76	1675											
RCN3	57333	broad.mit.edu	37	chr19	50042431	50042431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtccaggtggaggagtAcatcggtgagtgggccccaa	9	8	15	9	1	0	1	0	1	0	0	2	3	1	3	3	5	1	1	3	5	3	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50042431A>G	uc002poj.3	+	4	1121	c.674A>G	c.(673-675)tAc>tGc	p.Y225C		NM_020650	NP_065701	Q96D15	RCN3_HUMAN	Homo sapiens reticulocalbin 3, EF-hand calcium binding domain (RCN3), mRNA.	225	EF-hand 4.					endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		GTGGAGGAGTACATCGGTGAG	0.587													G	50042431	A	G	50042431	3	3	26	1	0	0	0	0	1	0	0	0	13269	391	14	3	688	3	RCN3	19	50042431	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08	33982129	50042431	9086552	77	1676											
SIGLEC11	114132	broad.mit.edu	37	chr19	50453362	50453362	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtccgcaggctcccaGagcctcaggccctggaagct	6	7	12	16	1	1	1	1	0	0	1	4	2	4	2	5	4	2	3	5	4	1	0			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr19:50453362G>T	uc010ybh.2	-	10	2053	c.1962C>A	c.(1960-1962)ctC>ctA	p.L654L	SIGLEC11_uc010ybi.2_Silent_p.L558L	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	654					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CAGGCTCCCAGAGCCTCAGGC	0.662													T	50453362	G	T	50453362	2	4	26	1	0	0	0	0	0	0	0	1	14401	929	33	4		4	SIGLEC11	19	50453362	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	410931	50453362	8675621	78	1677											
RBL1	5933	broad.mit.edu	37	chr20	35663716	35663716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccattgttagaagagttTgaccaggtaaaattgataca	14	12	10	5	0	0	4	0	2	0	2	0	4	0	4	2	2	1	3	2	2	5	6			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr20:35663716T>A	uc002xgi.3	-	14	2178	c.2099A>T	c.(2098-2100)cAa>cTa	p.Q700L	RBL1_uc002xgj.1_Missense_Mutation_p.Q700L	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	700	Pocket; binds T and E1A.|Spacer.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAGAAGAGTTTGACCAGGTAA	0.363													A	35663716	T	A	35663716	3	1	26	1	0	0	0	0	1	0	0	0	13197	1812	63	5	1148	5	RBL1	20	35663716	Missense_Mutation	SNP	T	TCGA-06-0155-01B-01D-1492-08		35663716	27361804	79	1678											
DSCAM	1826	broad.mit.edu	37	chr21	41514514	41514514	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttggcccagtaaatgActctgaacccctggagaatt	11	10	11	9	0	1	4	0	3	1	1	1	5	1	4	3	3	1	2	3	3	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:41514514A>T	uc002yyq.1	-	17	3829	c.3377T>A	c.(3376-3378)gTc>gAc	p.V1126D	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1126	Fibronectin type-III 3.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CCAGTAAATGACTCTGAACCC	0.468													T	41514514	A	T	41514514	3	4	26	1	0	0	0	0	1	0	0	0	4807	275	10	5	2725	5	DSCAM	21	41514514	Missense_Mutation	SNP	A	TCGA-06-0155-01B-01D-1492-08		41514514	6615381	80	1679											
PRDM15	63977	broad.mit.edu	37	chr21	43230603	43230603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgcctccaccttgtcGtgtgtgagctgaacgtgctt	4	13	11	13	3	1	2	0	2	1	0	3	2	2	2	3	0	4	2	3	0	1	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr21:43230603G>A	uc002yzq.1	-	27	3768	c.3657C>T	c.(3655-3657)caC>caT	p.H1219H	PRDM15_uc002yzo.3_Silent_p.H890H|PRDM15_uc002yzp.3_Silent_p.H910H|PRDM15_uc002yzr.1_Silent_p.H910H	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCACCTTGTCGTGTGTGAGCT	0.612													A	43230603	G	A	43230603	2	1	26	1	0	0	0	0	0	0	0	1	12542	1136	40	1		1	PRDM15	21	43230603	Silent	SNP	G	TCGA-06-0155-01B-01D-1492-08	1716089	43230603	4899292	81	1680											
IL2RB	3560	broad.mit.edu	37	chr22	37524874	37524874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgatgaggggaagggCgaagagagccacttctggtg	12	5	18	6	2	1	2	0	1	1	1	1	7	1	4	1	5	1	0	1	5	3	1			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chr22:37524874C>T	uc003aqv.1	-	9	1049	c.918G>A	c.(916-918)tcG>tcA	p.S306S		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	306					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	AGGGGAAGGGCGAAGAGAGCC	0.622													T	37524874	C	T	37524874	2	4	26	1	0	0	0	0	0	0	0	1	7745	755	27	1		1	IL2RB	22	37524874	Silent	SNP	C	TCGA-06-0155-01B-01D-1492-08		37524874	13779692	82	1681											
KDM6A	7403	broad.mit.edu	37	chrX	44922695	44922695	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aacaggagttgcacaggtacGatctactggaattcctaatg	13	10	10	8	1	1	0	0	0	1	0	2	3	2	2	1	3	4	3	1	3	5	5			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:44922695G>C	uc011mkz.2	+	16	2087	c.1712G>C	c.(1711-1713)cGa>cCa	p.R571P	KDM6A_uc022bvi.1_Missense_Mutation_p.R189P|KDM6A_uc010nhk.2_Missense_Mutation_p.R485P|KDM6A_uc004dge.4_Missense_Mutation_p.R519P|KDM6A_uc011mla.2_Missense_Mutation_p.R474P|KDM6A_uc011mlb.2_Missense_Mutation_p.R526P|KDM6A_uc011mlc.2_Missense_Mutation_p.R223P|KDM6A_uc022bvj.1_Missense_Mutation_p.R440P|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.R158P	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	519					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GCACAGGTACGATCTACTGGA	0.463			"D, N, F, S"		"renal, oesophageal SCC, MM"								C	44922695	G	C	44922695	3	2	26	1	0	0	0	0	1	0	0	0	8195	1058	37	4	1618	4	KDM6A	23	44922695	Missense_Mutation	SNP	G	TCGA-06-0155-01B-01D-1492-08		44922695	110347865	83	1682											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299171	125299171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccacatccctcggaCggatgtgggcatatactggg	7	9	13	12	2	0	0	0	0	0	0	3	2	2	2	3	5	1	1	3	5	2	2			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:125299171C>T	uc004euk.2	-	0	910	c.737G>A	c.(736-738)cGt>cAt	p.R246H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647													T	125299171	C	T	125299171	3	4	26	1	0	0	0	0	1	0	0	0	4299	536	19	1	658	1	DCAF12L2	23	125299171	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	80376476	125299171	29971389	84	1683											
SLITRK4	139065	broad.mit.edu	37	chrX	142718314	142718314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgcaattcaacgacaCggccaatgtgttccagaacc	12	8	8	13	2	1	1	1	0	0	1	2	2	2	1	4	1	3	3	4	1	4	3			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142718314C>T	uc022cfm.1	-	0	611	c.611G>A	c.(610-612)cGt>cAt	p.R204H	SLITRK4_uc022cfl.1_Missense_Mutation_p.R204H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R204H|SLITRK4_uc004fby.3_Missense_Mutation_p.R204H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	204						integral to membrane		p.R204H(2)|p.R204C(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAACGACACGGCCAATGTG	0.428													T	142718314	C	T	142718314	3	4	26	1	0	0	0	0	1	0	0	0	14839	536	19	1	1906	1	SLITRK4	23	142718314	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	17419143	142718314	12552246	85	1684											
SPANXN2	494119	broad.mit.edu	37	chrX	142795437	142795437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcctcctcctcttggaCgggattgatggagttctctc	4	15	10	12	2	2	1	0	1	2	0	8	4	5	4	3	3	0	1	3	3	0	4			TCGA-06-0155-01B-01D-1492-08	TCGA-06-0155-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc59e9b-3a60-4178-9fa0-81cf5171622d	b28ec581-f388-4a90-8ec5-63d737a051b8	g.chrX:142795437C>T	uc004fbz.3	-	1	995	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615	NP_001009615	Q5MJ10	SPXN2_HUMAN	Homo sapiens SPANX family, member N2 (SPANXN2), mRNA.	81								p.V81F(2)|p.R90R(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453													T	142795437	C	T	142795437	3	4	26	1	0	0	0	0	1	0	0	0	15087	536	19	1	305	1	SPANXN2	23	142795437	Missense_Mutation	SNP	C	TCGA-06-0155-01B-01D-1492-08	77123	142795437	12475123	86	1685											
SPTA1	6708	broad.mit.edu	37	chr1	158585171	158585171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttagttgacgcttcatcGcctggatctccttctgtttt	4	18	9	10	2	3	1	1	1	2	0	5	2	3	2	2	2	0	4	2	2	1	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:158585171G>A	uc001fst.1	-	47	6822	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2208					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ACGCTTCATCGCCTGGATCTC	0.468													A	158585171	G	A	158585171	3	1	27	1	0	0	0	0	1	0	0	0	15212	1087	38	1	656	1	SPTA1	1	158585171	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		158585171	90665450	1	1686											
SERPINC1	462	broad.mit.edu	37	chr1	173878724	173878724	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcagggctgaacagatcGacaaggcccatgtcttgcag	10	10	11	10	1	2	2	1	1	1	1	3	3	2	2	1	2	2	2	1	2	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:173878724G>A	uc001gjt.3	-	4	1238	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	373					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	TGAACAGATCGACAAGGCCCA	0.527													A	173878724	G	A	173878724	2	1	27	1	0	0	0	0	0	0	0	1	14202	1045	37	1		1	SERPINC1	1	173878724	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	15293553	173878724	75371897	2	1687											
SYT2	127833	broad.mit.edu	37	chr1	202566072	202566072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttgtcatagtccagcacgGtgaccactacctggactttc	8	11	9	13	1	1	1	1	1	0	0	3	2	2	2	3	2	2	2	3	2	2	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:202566072G>A	uc001gye.3	-	8	1266	c.1073C>T	c.(1072-1074)aCc>aTc	p.T358I	SYT2_uc010pqb.2_Missense_Mutation_p.T358I|SYT2_uc009xaf.3_Missense_Mutation_p.T188I	NM_001136504	NP_796376	Q8N9I0	SYT2_HUMAN	Homo sapiens synaptotagmin II (SYT2), transcript variant 2, mRNA.	358	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.T358T(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GTCCAGCACGGTGACCACTAC	0.547													A	202566072	G	A	202566072	3	1	27	1	0	0	0	0	1	0	0	0	15571	1261	44	2	190	2	SYT2	1	202566072	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	28687348	202566072	46684549	3	1688											
HSD11B1	3290	broad.mit.edu	37	chr1	209907741	209907741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaaagggggagctctgCgccaagaagaagtgtattat	13	9	12	7	1	3	2	2	0	1	2	3	3	3	3	1	2	2	2	1	2	6	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:209907741C>T	uc001hhj.3	+	6	886	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	HSD11B1_uc021pin.1_Missense_Mutation_p.R252C|HSD11B1_uc001hhk.3_Missense_Mutation_p.R252C	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	252					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GGGAGCTCTGCGCCAAGAAGA	0.463													T	209907741	C	T	209907741	3	4	27	1	0	0	0	0	1	0	0	0	7430	768	27	1	776	1	HSD11B1	1	209907741	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	7341669	209907741	39342880	4	1689											
RYR2	6262	broad.mit.edu	37	chr1	237777626	237777626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccccatgacggaggagaCgaagagcatcaccctgttcc	10	7	11	13	2	1	3	1	1	0	2	3	6	3	4	4	2	1	2	4	2	1	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr1:237777626C>T	uc001hyl.1	+	36	5318	c.5198C>T	c.(5197-5199)aCg>aTg	p.T1733M		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1733	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGGAGGAGACGAAGAGCATC	0.557													T	237777626	C	T	237777626	3	4	27	1	0	0	0	0	1	0	0	0	13860	536	19	1	5344	1	RYR2	1	237777626	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	27869885	237777626	11472995	5	1690											
C2orf16	84226	broad.mit.edu	37	chr2	27803330	27803330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagaatcaccaagcgactTagaaaacacagaaagttcta	20	6	7	8	1	2	3	1	0	1	3	2	5	2	3	1	0	2	1	1	0	8	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:27803330T>C	uc002rkz.4	+	0	3942	c.3891T>C	c.(3889-3891)ctT>ctC	p.L1297L	ZNF512_uc010ylw.2_5'Flank|ZNF512_uc002rlb.3_5'Flank|ZNF512_uc010ylx.2_5'Flank|ZNF512_uc002rlc.3_5'Flank|ZNF512_uc002rla.3_5'Flank|ZNF512_uc010ylv.2_5'Flank|ZNF512_uc010yly.1_5'Flank|ZNF512_uc010ylz.2_5'Flank	NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	1297										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CCAAGCGACTTAGAAAACACA	0.403													C	27803330	T	C	27803330	2	2	27	1	0	0	0	0	0	0	0	1	2178	1741	61	3		3	C2orf16	2	27803330	Silent	SNP	T	TCGA-06-0157-01A-01D-1491-08		27803330	215396043	6	1691											
SNRNP200	23020	broad.mit.edu	37	chr2	96964138	96964138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttcactttgtgcactggCcagcaaggtacagtataaaa	13	10	9	9	0	1	0	1	0	0	0	1	0	1	0	1	2	4	5	1	2	5	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:96964138C>T	uc002svu.3	-	8	1135	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	335						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TGTGCACTGGCCAGCAAGGTA	0.433													T	96964138	C	T	96964138	3	4	27	1	0	0	0	0	1	0	0	0	14946	739	26	2	5555	2	SNRNP200	2	96964138	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	69160808	96964138	146235235	7	1692											
TBR1	10716	broad.mit.edu	37	chr2	162280004	162280004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaccagttcgtgagcAactacgccaaggcccgcttc	9	7	11	14	3	0	1	0	1	0	0	2	2	0	2	3	2	4	4	3	2	3	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:162280004A>G	uc002ubw.1	+	5	1617	c.1315A>G	c.(1315-1317)Aac>Gac	p.N439D	TBR1_uc010foy.2_Missense_Mutation_p.N152D	NM_006593	NP_006584	Q16650	TBR1_HUMAN	Homo sapiens T-box, brain, 1 (TBR1), mRNA.	439						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						GTTCGTGAGCAACTACGCCAA	0.746													G	162280004	A	G	162280004	3	3	27	1	0	0	0	0	1	0	0	0	15747	130	5	3	1337	3	TBR1	2	162280004	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	65315866	162280004	80919369	8	1693											
TTN	7273	broad.mit.edu	37	chr2	179542633	179542633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaactggaactggttcacGtttctttggcactttaaaga	11	13	10	7	1	2	1	1	0	1	1	2	3	2	3	0	4	2	3	0	4	4	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:179542633G>A	uc021vsy.1	-	142	30499	c.30274C>T	c.(30274-30276)Cgt>Tgt	p.R10092C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R6753C|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11019	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGTTCACGTTTCTTTGGC	0.363													A	179542633	G	A	179542633	3	1	27	1	0	0	0	0	1	0	0	0	16837	1145	40	1	70391	1	TTN	2	179542633	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	17262629	179542633	63656740	9	1694											
PDE1A	5136	broad.mit.edu	37	chr2	183053766	183053766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggggaaaatggaagccCtaattcagcttctttatctc	12	12	9	8	0	3	0	1	0	2	0	4	2	3	2	1	3	2	1	1	3	6	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr2:183053766C>T	uc002uos.3	-	11	1279	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	PDE1A_uc010zfp.1_Missense_Mutation_p.G295R|PDE1A_uc002uoq.1_Missense_Mutation_p.G399R|PDE1A_uc010zfq.1_Missense_Mutation_p.G399R|PDE1A_uc002uor.3_Missense_Mutation_p.G383R|PDE1A_uc002uou.3_Missense_Mutation_p.G365R	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	399	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AATGGAAGCCCTAATTCAGCT	0.413													T	183053766	C	T	183053766	3	4	27	1	0	0	0	0	1	0	0	0	11709	681	24	2	506	2	PDE1A	2	183053766	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	3511133	183053766	60145607	10	1695											
STXBP5L	9515	broad.mit.edu	37	chr3	121126274	121126274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaaataggagatcatcaGtatacaataatctgctcaga	18	9	7	7	0	4	3	3	0	1	3	4	4	4	3	0	1	2	2	0	1	7	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:121126274G>C	uc003eec.4	+	23	2984	c.2844G>C	c.(2842-2844)caG>caC	p.Q948H	STXBP5L_uc011bji.2_Missense_Mutation_p.Q924H	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	948					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAGATCATCAGTATACAATAA	0.378													C	121126274	G	C	121126274	3	2	27	1	0	0	0	0	1	0	0	0	15453	1020	36	4	2934	4	STXBP5L	3	121126274	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		121126274	76896156	11	1696											
DNAJB11	51726	broad.mit.edu	37	chr3	186302367	186302367	+	Frame_Shift_Del	DEL	A	A	-																															aaaagaacagttaacagaggAagcgagagaaggtatggcat																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr3:186302367delA	uc003fqi.3	+	8	1736	c.1001delA	c.(1000-1002)gaafs	p.E334fs		NM_016306	NP_057390	Q9UBS4	DJB11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 11 (DNAJB11), mRNA.	334					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTAACAGAGGAAGCGAGAGAA	0.413													-	186302367	A	-	186302367	7	5	27	1	0	1	0	1	0	0	0	0	4655	246	9	0	1035	0	DNAJB11	3	186302367	Frame_Shift_Del	DEL	A	TCGA-06-0157-01A-01D-1491-08	65176093	186302367	11720063	12	1697											
UGT2B4	7363	broad.mit.edu	37	chr4	70361103	70361103	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttaagtaactcggccagCagctcaccaaaggggaaaac	15	7	9	10	1	1	0	1	0	0	0	2	1	1	1	2	3	4	3	2	3	5	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr4:70361103C>G	uc003hek.4	-	0	524	c.477G>C	c.(475-477)ctG>ctC	p.L159L	UGT2B4_uc011cap.2_Silent_p.L23L|UGT2B4_uc003hel.4_Silent_p.L159L	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	159					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						ACTCGGCCAGCAGCTCACCAA	0.428													G	70361103	C	G	70361103	2	3	27	1	0	0	0	0	0	0	0	1	17063	697	25	4		4	UGT2B4	4	70361103	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08		70361103	120793173	13	1698											
IRX1	79192	broad.mit.edu	37	chr5	3601124	3601124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcaggagggaacgccGcggatcctagcagccctccc	7	3	13	18	4	0	0	0	0	0	0	2	3	2	3	6	3	3	2	6	3	2	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:3601124G>A	uc003jde.3	+	3	1465	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	471						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P471R(1)		biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGGGAACGCCGCGGATCCTAG	0.652													A	3601124	G	A	3601124	2	1	27	1	0	0	0	0	0	0	0	1	7901	1074	38	1		1	IRX1	5	3601124	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		3601124	177314136	14	1699											
TARS	6897	broad.mit.edu	37	chr5	33461376	33461376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaaaaattccttggagatatCgaagtatgggatcaagctga	15	10	11	5	1	1	2	1	1	0	1	3	6	2	3	1	2	1	2	1	2	6	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr5:33461376C>G	uc003jhy.3	+	12	1822	c.1527C>G	c.(1525-1527)atC>atG	p.I509M	TARS_uc010iup.1_Missense_Mutation_p.I450M|TARS_uc011coc.2_Missense_Mutation_p.I530M|TARS_uc003jhz.3_Missense_Mutation_p.I405M|TARS_uc011cod.2_Missense_Mutation_p.I388M	NM_152295	NP_689508	P26639	SYTC_HUMAN	Homo sapiens threonyl-tRNA synthetase (TARS), mRNA.	509					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	TTGGAGATATCGAAGTATGGG	0.373													G	33461376	C	G	33461376	3	3	27	1	0	0	0	0	1	0	0	0	15656	874	31	4	1577	4	TARS	5	33461376	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	29860252	33461376	147453884	15	1700											
RPS12	6206	broad.mit.edu	37	chr6	133137703	133137703	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accaaatcaacctaattaagGtaaggctgctaaggattgtg	15	10	9	7	0	1	0	1	0	0	0	1	1	1	1	2	3	2	3	2	3	6	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr6:133137703G>T	uc003qdx.3	+	4	316	c.234_splice	c.e4+1	p.K78_splice	SNORA33_uc003qdy.1_3'UTR	NM_001016	NP_001007	P25398	RS12_HUMAN	Homo sapiens ribosomal protein S12 (RPS12), mRNA.	78					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		CCTAATTAAGGTAAGGCTGCT	0.438													T	133137703	G	T	133137703	5	4	27	1	0	0	0	0	0	0	1	0	13713	1275	44	4	245	4	RPS12	6	133137703	Splice_Site	SNP	G	TCGA-06-0157-01A-01D-1491-08		133137703	37977364	16	1701											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	27	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		55221822	103916841	17	1702											
PCLO	27445	broad.mit.edu	37	chr7	82784773	82784773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtctttccaactccaGgaggctgagctaaagccttt	9	11	10	11	0	1	1	0	1	1	0	3	3	3	3	3	3	3	2	3	3	3	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr7:82784773G>A	uc003uhx.2	-	1	1473	c.1184C>T	c.(1183-1185)cCt>cTt	p.P395L	PCLO_uc003uhv.2_Missense_Mutation_p.P395L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	346	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCCAACTCCAGGAGGCTGAGC	0.592													A	82784773	G	A	82784773	3	1	27	1	0	0	0	0	1	0	0	0	11659	1000	35	2	14357	2	PCLO	7	82784773	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	27562951	82784773	76353890	18	1703											
GATA4	2626	broad.mit.edu	37	chr8	11607632	11607632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcagtccgcctcccgcCgagtgggcctctcctgtgcc	2	10	11	18	3	2	0	0	0	2	0	5	1	4	0	7	1	2	1	7	1	0	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:11607632C>T	uc011kxc.1	+	2	1256	c.799C>T	c.(799-801)Cga>Tga	p.R267*	GATA4_uc003wub.1_Nonsense_Mutation_p.R60*|GATA4_uc003wuc.2_Nonsense_Mutation_p.R266*	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	266					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CGCCTCCCGCCGAGTGGGCCT	0.632													T	11607632	C	T	11607632	4	4	27	1	0	0	0	0	0	1	0	0	6310	644	23	1	806	1	GATA4	8	11607632	Nonsense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		11607632	134756390	19	1704											
SLC18A1	6570	broad.mit.edu	37	chr8	20022464	20022464	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccacccccatgttggcaaAgcagatggaccctggggaga	10	5	14	12	0	0	2	0	0	0	2	0	4	0	3	4	5	1	3	4	5	1	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:20022464A>T	uc011kyq.2	-	10	1402	c.931T>A	c.(931-933)Ttt>Att	p.F311I	SLC18A1_uc003wzm.3_Missense_Mutation_p.F311I|SLC18A1_uc011kyr.2_Missense_Mutation_p.F311I|SLC18A1_uc003wzn.3_Intron|SLC18A1_uc010ltf.3_Non-coding_Transcript	NM_001135691	NP_003044	P54219	VMAT1_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 1 (SLC18A1), transcript variant 1, mRNA.	311					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		ATGTTGGCAAAGCAGATGGAC	0.612													T	20022464	A	T	20022464	3	4	27	1	0	0	0	0	1	0	0	0	14519	72	3	5	674	5	SLC18A1	8	20022464	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	8414832	20022464	126341558	20	1705											
MRPL13	28998	broad.mit.edu	37	chr8	121432169	121432170	+	Frame_Shift_Ins	INS	-	-	T																															agcatgccataaatagctagINSttttacaatctgaaagatat																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr8:121432169_121432170insT	uc003ypa.3	-	4	628_629	c.315_316insA	c.(313-318)aaactafs	p.K105fs	MRPL13_uc010mdf.3_Non-coding_Transcript	NM_014078	NP_054797	Q9BYD1	RM13_HUMAN	Homo sapiens mitochondrial ribosomal protein L13 (MRPL13), nuclear gene encoding mitochondrial protein, mRNA.	105					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	6	Lung NSC(37;1.69e-07)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAAATAGCTAGTTTTACAATCT	0.356													T	121432170	-	T	121432169	7	5	27	1	0	1	1	0	0	0	0	0	9854	1020	36	0	232	0	MRPL13	8	121432169	Frame_Shift_Ins	INS	-	TCGA-06-0157-01A-01D-1491-08	101409705	121432169	24931853	21	1706											
AQP7	364	broad.mit.edu	37	chr9	33385701	33385701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgcgggggggcaggTcccgggacgggttgatggca	7	6	21	7	3	0	3	0	2	0	1	1	4	1	4	1	7	1	3	1	7	1	1	rs34690144		TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr9:33385701T>C	uc003zst.3	-	6	861	c.689A>G	c.(688-690)gAc>gGc	p.D230G	AQP7_uc003zsu.1_Missense_Mutation_p.D173G|AQP7_uc010mjs.2_Missense_Mutation_p.D138G|AQP7_uc010mjt.2_Missense_Mutation_p.D138G|AQP7_uc011lny.1_Missense_Mutation_p.D229G|AQP7_uc003zss.3_Missense_Mutation_p.D138G|AQP7_uc011lnz.1_Missense_Mutation_p.D138G|AQP7_uc011loa.1_Silent_p.G98G|AQP7_uc011lnx.1_Missense_Mutation_p.D230G	NM_001170	NP_001161	O14520	AQP7_HUMAN	Homo sapiens aquaporin 7 (AQP7), mRNA.	230					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GGGGGGCAGGTCCCGGGACGG	0.587													C	33385701	T	C	33385701	3	2	27	1	0	0	0	0	1	0	0	0	834	1667	58	3	347	3	AQP7	9	33385701	Missense_Mutation	SNP	T	TCGA-06-0157-01A-01D-1491-08		33385701	107827730	22	1707											
PTEN	5728	broad.mit.edu	37	chr10	89690819	89690820	+	Frame_Shift_Del	DEL	TA	TA	-																															ttagttgtgctgaaagacatTatgacaccgccaaatttaat																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:89690819_89690820delTA	uc001kfb.3	+	3	1258_1259	c.226_227delTA	c.(226-228)tatfs	p.Y76fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	76	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y76fs*1(24)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.Y76del(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.H75_T78del(2)|p.Y27_N212>Y(2)|p.Y76Y(1)|p.Y76*(1)|p.H75N(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAAGACATTATGACACCGCC	0.302		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89690820	TA	-	89690819	7	5	27	1	0	1	0	1	0	0	0	0	12823	1754	61	0	240	0	PTEN	10	89690819	Frame_Shift_Del	DEL	TA	TCGA-06-0157-01A-01D-1491-08		89690819	45843928	23	1708											
HSPA12A	259217	broad.mit.edu	37	chr10	118439024	118439024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaactcacttgcttttccGcaaggcgtgctccacactgt	7	11	7	16	2	1	0	1	0	0	0	3	0	3	0	3	1	3	3	3	1	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:118439024G>A	uc001lct.3	-	9	1381	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	HSPA12A_uc001lcu.3_Missense_Mutation_p.R343W	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	426							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TTGCTTTTCCGCAAGGCGTGC	0.572													A	118439024	G	A	118439024	3	1	27	1	0	0	0	0	1	0	0	0	7461	1086	38	1	763	1	HSPA12A	10	118439024	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	28748205	118439024	17095723	24	1709											
JAKMIP3	282973	broad.mit.edu	37	chr10	133949482	133949482	+	Frame_Shift_Del	DEL	A	A	-																															agtacaagcctctgctggatAaaaacaagcgcctcagtcgg																										TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr10:133949482delA	uc001lkx.4	+	4	1018	c.1018delA	c.(1018-1020)aaafs	p.K340fs		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TCTGCTGGATAAAAACAAGCG	0.443													-	133949482	A	-	133949482	7	5	27	1	0	1	0	1	0	0	0	0	8000	363	13	0	1036	0	JAKMIP3	10	133949482	Frame_Shift_Del	DEL	A	TCGA-06-0157-01A-01D-1491-08	15510458	133949482	1585265	25	1710											
KCNQ1	3784	broad.mit.edu	37	chr11	2466624	2466624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacagcacgcgccgccCggtgttggcgcgcacccacg	6	5	12	18	7	1	0	0	0	1	0	1	0	1	0	3	2	2	3	3	2	1	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:2466624C>T	uc001lwn.3	+	0	404	c.296C>T	c.(295-297)cCg>cTg	p.P99L	KCNQ1_uc009ydo.1_Missense_Mutation_p.P99L	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	99				TRRPVLARTHV -> METRGSRLTGG (in Ref. 6; AAC51781).	blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	ACGCGCCGCCCGGTGTTGGCG	0.706													T	2466624	C	T	2466624	3	4	27	1	0	0	0	0	1	0	0	0	8140	652	23	1	298	1	KCNQ1	11	2466624	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		2466624	132539892	26	1711											
OR5M8	219484	broad.mit.edu	37	chr11	56258561	56258561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtaacactgcacaagacAggcaggataggaaatgcttt	16	7	11	7	0	0	1	0	0	0	1	0	3	0	3	0	4	3	4	0	4	5	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr11:56258561A>G	uc001nix.1	-	0	286	c.286T>C	c.(286-288)Tgt>Cgt	p.C96R	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TGCACAAGACAGGCAGGATAG	0.473													G	56258561	A	G	56258561	3	3	27	1	0	0	0	0	1	0	0	0	11252	188	7	3	653	3	OR5M8	11	56258561	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	53791937	56258561	78747955	27	1712											
VWF	7450	broad.mit.edu	37	chr12	6122757	6122757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggcctgccaagatcCgtagctgggctgcatcgtag	6	9	14	12	2	0	1	0	0	0	1	2	1	1	1	3	2	4	6	3	2	3	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:6122757C>T	uc001qnn.1	-	31	5760	c.5510G>A	c.(5509-5511)cGg>cAg	p.R1837Q	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1837	VWFA 3; main binding site for collagens type I and III.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGCCAAGATCCGTAGCTGGGC	0.532													T	6122757	C	T	6122757	3	4	27	1	0	0	0	0	1	0	0	0	17348	652	23	1	3015	1	VWF	12	6122757	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		6122757	127729138	28	1713											
TAS2R13	50838	broad.mit.edu	37	chr12	11061487	11061487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaataagaagaccaaGgttcctagcagtatcatcag	17	10	7	7	0	2	2	2	0	0	2	3	2	3	2	2	1	1	3	2	1	8	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:11061487G>A	uc001qzg.1	-	0	675	c.411C>T	c.(409-411)acC>acT	p.T137T	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron	NM_023920	NP_076409	Q9NYV9	T2R13_HUMAN	Homo sapiens taste receptor, type 2, member 13 (TAS2R13), mRNA.	137					sensory perception of taste	integral to membrane	taste receptor activity	p.T137T(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGAAGACCAAGGTTCCTAGCA	0.353													A	11061487	G	A	11061487	2	1	27	1	0	0	0	0	0	0	0	1	15664	987	35	2		2	TAS2R13	12	11061487	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	4938730	11061487	122790408	29	1714											
TRPV4	59341	broad.mit.edu	37	chr12	110236432	110236432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccccaatcttgcccGtcttggcagccatcatgagg	8	9	8	16	1	4	1	2	1	2	0	4	1	4	1	4	2	2	1	4	2	1	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:110236432G>A	uc001tpj.2	-	4	1234	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M	TRPV4_uc001tpg.2_Missense_Mutation_p.T346M|TRPV4_uc021rdp.1_Missense_Mutation_p.T380M|TRPV4_uc001tph.2_Missense_Mutation_p.T333M|TRPV4_uc001tpi.2_Missense_Mutation_p.T333M|TRPV4_uc001tpk.2_Missense_Mutation_p.T380M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	380					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						AATCTTGCCCGTCTTGGCAGC	0.612													A	110236432	G	A	110236432	3	1	27	1	0	0	0	0	1	0	0	0	16699	1145	40	1	1520	1	TRPV4	12	110236432	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	99174945	110236432	23615463	30	1715											
HPD	3242	broad.mit.edu	37	chr12	122292681	122292681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccgcatgattttggcGccccgttcccgtgctttctg	2	13	11	15	4	1	1	0	1	1	0	3	1	3	1	4	2	1	4	4	2	0	4	rs61742674	byFrequency	TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr12:122292681G>A	uc001ubj.3	-	6	382	c.342C>T	c.(340-342)ggC>ggT	p.G114G	HPD_uc001ubk.3_Silent_p.G75G	NM_002150	NP_001165464	P32754	HPPD_HUMAN	Homo sapiens 4-hydroxyphenylpyruvate dioxygenase (HPD), transcript variant 1, mRNA.	114					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding	p.R113L(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TGATTTTGGCGCCCCGTTCCC	0.597													A	122292681	G	A	122292681	2	1	27	1	0	0	0	0	0	0	0	1	7387	1074	38	1		1	HPD	12	122292681	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08	12056249	122292681	11559214	31	1716											
COL4A1	1282	broad.mit.edu	37	chr13	110895031	110895031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaactcaccttttgtccCttcactccatggcagtcaca	8	11	6	16	1	3	0	3	0	0	0	5	0	5	0	3	2	1	2	3	2	1	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr13:110895031C>T	uc001vqw.4	-	1	257	c.135G>A	c.(133-135)aaG>aaA	p.K45K		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	45					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTTTTGTCCCTTCACTCCAT	0.408													T	110895031	C	T	110895031	2	4	27	1	0	0	0	0	0	0	0	1	3720	680	24	2		2	COL4A1	13	110895031	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08		110895031	4274847	32	1717											
KCNH5	27133	broad.mit.edu	37	chr14	63316465	63316465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggacctgatagagttttAggaagtcccgtacattattc	10	14	10	7	1	0	2	0	1	0	1	2	4	1	4	2	2	1	2	2	2	5	7			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr14:63316465A>T	uc001xfx.3	-	7	1526	c.1475T>A	c.(1474-1476)cTa>cAa	p.L492Q	KCNH5_uc001xfy.3_Missense_Mutation_p.L492Q|KCNH5_uc001xfz.1_Missense_Mutation_p.L434Q	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	492					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ATAGAGTTTTAGGAAGTCCCG	0.393													T	63316465	A	T	63316465	3	4	27	1	0	0	0	0	1	0	0	0	8093	420	15	5	1541	5	KCNH5	14	63316465	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08		63316465	44033075	33	1718											
IGF1R	3480	broad.mit.edu	37	chr15	99250943	99250943	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcacggtcattaccGagtacttgctgctgttccga	8	11	9	13	3	2	0	2	0	0	0	3	2	3	0	3	1	5	5	3	1	3	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr15:99250943G>T	uc002bul.3	+	1	297	c.247G>T	c.(247-249)Gag>Tag	p.E83*	IGF1R_uc010urq.2_Nonsense_Mutation_p.E83*|IGF1R_uc010bon.3_Nonsense_Mutation_p.E83*	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	83					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGTCATTACCGAGTACTTGCT	0.597													T	99250943	G	T	99250943	4	4	27	1	0	0	0	0	0	1	0	0	7629	1059	37	4	253	4	IGF1R	15	99250943	Nonsense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		99250943	3280449	34	1719											
WDR90	197335	broad.mit.edu	37	chr16	701986	701986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctgccggcacccacGtgttgactcacgagtcggct	5	8	13	15	5	1	1	1	1	0	0	2	2	1	1	2	3	2	5	2	3	0	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:701986G>A	uc002cii.1	+	8	1054	c.1000G>A	c.(1000-1002)Gtg>Atg	p.V334M	WDR90_uc002cig.1_Missense_Mutation_p.V334M|WDR90_uc002cih.1_Missense_Mutation_p.V335M|WDR90_uc002cij.1_Non-coding_Transcript	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	334								p.H333N(1)		endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGGCACCCACGTGTTGACTCA	0.687													A	701986	G	A	701986	3	1	27	1	0	0	0	0	1	0	0	0	17439	1145	40	1	1034	1	WDR90	16	701986	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08		701986	89652767	35	1720											
RHBDL1	9028	broad.mit.edu	37	chr16	727080	727080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgggcaccgtgcccGcgcctggcgcttcctcacct	3	6	10	22	5	1	0	1	0	0	0	2	0	2	0	8	2	1	2	8	2	0	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:727080G>A	uc002cis.1	+	2	758	c.731G>A	c.(730-732)cGc>cAc	p.R244H	RHBDL1_uc002cir.1_Missense_Mutation_p.R179H|RHBDL1_uc010uun.1_Missense_Mutation_p.R179H	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	244					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CACCGTGCCCGCGCCTGGCGC	0.617													A	727080	G	A	727080	3	1	27	1	0	0	0	0	1	0	0	0	13410	1087	38	1	741	1	RHBDL1	16	727080	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	25094	727080	89627673	36	1721											
SLC12A4	6560	broad.mit.edu	37	chr16	67984224	67984224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcagaggggctcacccGgaggaaggggatgatgttgt	9	7	19	6	1	1	2	1	1	0	1	1	6	1	5	1	6	1	3	1	6	1	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:67984224G>A	uc010vkj.1	-	10	1673	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	SLC12A4_uc010ceu.2_Missense_Mutation_p.R537W|SLC12A4_uc010vkh.1_Missense_Mutation_p.R512W|SLC12A4_uc002euz.2_Missense_Mutation_p.R543W|SLC12A4_uc010vki.1_Missense_Mutation_p.R543W|SLC12A4_uc002eva.2_Missense_Mutation_p.R543W|SLC12A4_uc010cev.1_5'Flank|SLC12A4_uc002evb.2_Non-coding_Transcript	NM_001145962	NP_001139434	Q9UP95	S12A4_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 4 (SLC12A4), transcript variant 3, mRNA.	543					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGGCTCACCCGGAGGAAGGGG	0.642													A	67984224	G	A	67984224	3	1	27	1	0	0	0	0	1	0	0	0	14479	1115	39	1	1682	1	SLC12A4	16	67984224	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	67257144	67984224	22370529	37	1722											
CDH15	1013	broad.mit.edu	37	chr16	89261311	89261311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccccagtgtgccgccttaCgacacagccctcatctatga	9	8	8	16	2	2	1	1	1	1	0	2	3	2	1	5	0	3	0	5	0	2	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr16:89261311C>T	uc002fmt.3	+	13	2270	c.2193C>T	c.(2191-2193)taC>taT	p.Y731Y		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	731					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		TGCCGCCTTACGACACAGCCC	0.637													T	89261311	C	T	89261311	2	4	27	1	0	0	0	0	0	0	0	1	3130	547	19	1		1	CDH15	16	89261311	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	21277087	89261311	1093442	38	1723											
DNAH9	1770	broad.mit.edu	37	chr17	11648135	11648135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcactacgactggggcctaCgggccatcaagtccgtgctg	8	8	12	13	3	2	0	2	0	0	0	3	1	3	0	3	3	3	1	3	3	3	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:11648135C>T	uc002gne.3	+	30	6201	c.6133C>T	c.(6133-6135)Cgg>Tgg	p.R2045W	DNAH9_uc010coo.3_Missense_Mutation_p.R1339W	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2045	AAA 1 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2045R(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTGGGGCCTACGGGCCATCAA	0.557													T	11648135	C	T	11648135	3	4	27	1	0	0	0	0	1	0	0	0	4647	527	19	1	6255	1	DNAH9	17	11648135	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		11648135	69547075	39	1724											
SNX11	29916	broad.mit.edu	37	chr17	46198838	46198838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatgctgtgcctttggacCctggtcagttagaaacagtt	9	13	10	9	0	2	1	2	0	0	1	2	2	2	2	2	2	3	3	2	2	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:46198838C>A	uc002inf.1	+	7	1135	c.781C>A	c.(781-783)Cct>Act	p.P261T	SNX11_uc010wlg.1_Missense_Mutation_p.P253T|SNX11_uc002ing.1_Missense_Mutation_p.P261T|SNX11_uc010wlh.1_Missense_Mutation_p.P253T|SNX11_uc010wli.1_Missense_Mutation_p.P200T|SNX11_uc010wlj.1_Missense_Mutation_p.P117T|SNX11_uc002inh.1_Missense_Mutation_p.P261T	NM_152244	NP_689450	Q9Y5W9	SNX11_HUMAN	Homo sapiens sorting nexin 11 (SNX11), transcript variant 1, mRNA.	261					cell communication|protein transport	membrane	phosphatidylinositol binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	14						GCCTTTGGACCCTGGTCAGTT	0.522													A	46198838	C	A	46198838	3	1	27	1	0	0	0	0	1	0	0	0	14976	623	22	4	803	4	SNX11	17	46198838	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	34550703	46198838	34996372	40	1725											
TNRC6C	57690	broad.mit.edu	37	chr17	76089149	76089149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccccatagctggtcacGtgccaaatctgacagtgata	10	11	9	11	1	2	2	1	2	1	0	3	2	3	2	3	1	2	2	3	1	3	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:76089149G>A	uc002jud.2	+	15	4706	c.4106G>A	c.(4105-4107)cGt>cAt	p.R1369H	TNRC6C_uc002juf.2_Missense_Mutation_p.R1366H	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1369					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGCTGGTCACGTGCCAAATCT	0.502													A	76089149	G	A	76089149	3	1	27	1	0	0	0	0	1	0	0	0	16442	1145	40	1	4156	1	TNRC6C	17	76089149	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	29890311	76089149	5106061	41	1726											
UTS2R	2837	broad.mit.edu	37	chr17	80332216	80332216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagatggcgctgacccccGagtccccgagcagcttccct	7	6	11	17	3	0	2	0	1	0	1	2	5	2	2	5	1	2	3	5	1	0	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr17:80332216G>A	uc010wvl.2	+	0	16	c.16G>A	c.(16-18)Gag>Aag	p.E6K		NM_018949	NP_061822	Q9UKP6	UR2R_HUMAN	Homo sapiens urotensin 2 receptor (UTS2R), mRNA.	6						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GCTGACCCCCGAGTCCCCGAG	0.721													A	80332216	G	A	80332216	3	1	27	1	0	0	0	0	1	0	0	0	17208	1059	37	1	18	1	UTS2R	17	80332216	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	4243067	80332216	862994	42	1727											
LAMA1	284217	broad.mit.edu	37	chr18	7023335	7023335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagggaacacaagattcGccaggcactgttgggtttcc	10	9	11	11	1	1	1	1	0	0	1	3	2	2	2	2	3	1	3	2	3	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr18:7023335G>A	uc002knm.3	-	18	2623	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G	LAMA1_uc010wzj.2_Silent_p.G319G	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	843	Laminin EGF-like 7.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G843V(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACAAGATTCGCCAGGCACTG	0.527													A	7023335	G	A	7023335	2	1	27	1	0	0	0	0	0	0	0	1	8664	1074	38	1		1	LAMA1	18	7023335	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		7023335	71053913	43	1728											
MUC16	94025	broad.mit.edu	37	chr19	9063659	9063659	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgagtgtgtcattgtcaaAgaggttgtgcttgacgtgtc	7	15	14	5	1	2	3	2	2	0	1	3	3	2	3	0	1	1	3	0	1	1	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:9063659A>T	uc002mkp.3	-	2	23991	c.23787T>A	c.(23785-23787)tcT>tcA	p.S7929S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	7931	Ser-rich.|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						TCATTGTCAAAGAGGTTGTGC	0.458													T	9063659	A	T	9063659	2	4	27	1	0	0	0	0	0	0	0	1	10049	59	3	5		5	MUC16	19	9063659	Silent	SNP	A	TCGA-06-0157-01A-01D-1491-08		9063659	50065324	44	1729											
FFAR1	2864	broad.mit.edu	37	chr19	35842837	35842837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcctggggggtgtgcgCggccatctgggccctcgtcc	2	10	15	14	3	1	0	0	0	1	0	4	0	3	0	4	5	1	0	4	5	1	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:35842837C>T	uc002nzc.2	+	0	393	c.383C>T	c.(382-384)gCg>gTg	p.A128V		NM_005303	NP_005294	O14842	FFAR1_HUMAN	Homo sapiens free fatty acid receptor 1 (FFAR1), mRNA.	128					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	GGGGTGTGCGCGGCCATCTGG	0.667													T	35842837	C	T	35842837	3	4	27	1	0	0	0	0	1	0	0	0	5876	768	27	1	385	1	FFAR1	19	35842837	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	26779178	35842837	23286146	45	1730											
ZFP82	284406	broad.mit.edu	37	chr19	36884449	36884449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagtaagttgtcctcgtaCcctaaaagccttcccacatt	11	11	6	13	1	0	1	0	0	0	1	3	1	2	1	4	0	2	3	4	0	4	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:36884449C>T	uc002ody.1	-	4	1028	c.793G>A	c.(793-795)Gta>Ata	p.V265I		NM_133466	NP_597723	Q8N141	ZFP82_HUMAN	Homo sapiens zinc finger protein 82 homolog (mouse) (ZFP82), mRNA.	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V265L(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TGTCCTCGTACCCTAAAAGCC	0.433													T	36884449	C	T	36884449	3	4	27	1	0	0	0	0	1	0	0	0	17754	507	18	2	809	2	ZFP82	19	36884449	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	1041612	36884449	22244534	46	1731											
MEIS3	56917	broad.mit.edu	37	chr19	47910342	47910342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccctgtacctgtgcGgttggattgatcgatcatag	6	13	10	12	2	1	1	1	1	0	0	3	3	2	2	4	2	2	2	4	2	2	5			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:47910342G>A	uc002pgq.3	-	9	1297	c.1231C>T	c.(1231-1233)Cgc>Tgc	p.R411C	MEIS3_uc002pgo.3_Missense_Mutation_p.R129C|MEIS3_uc002pgp.3_Missense_Mutation_p.R162C|MEIS3_uc002pgr.3_Missense_Mutation_p.R198C|MEIS3_uc002pgs.3_Missense_Mutation_p.R376C|MEIS3_uc002pgt.3_Missense_Mutation_p.R313C|MEIS3_uc010eld.3_Missense_Mutation_p.R376C	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	330						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		GTACCTGTGCGGTTGGATTGA	0.612													A	47910342	G	A	47910342	3	1	27	1	0	0	0	0	1	0	0	0	9544	1116	39	1	151	1	MEIS3	19	47910342	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	11025893	47910342	11218641	47	1732											
SIGLEC5	8778	broad.mit.edu	37	chr19	52129355	52129355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagctgcttgcttcctgCgggctttcactctaaggaaa	7	12	9	13	1	2	0	1	0	1	0	4	1	4	1	2	2	4	4	2	2	2	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:52129355C>T	uc002pxe.3	-	7	1533	c.1394G>A	c.(1393-1395)cGc>cAc	p.R465H		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	465					cell adhesion	integral to membrane	sugar binding	p.A464A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TTGCTTCCTGCGGGCTTTCAC	0.527													T	52129355	C	T	52129355	3	4	27	1	0	0	0	0	1	0	0	0	14405	768	27	1	269	1	SIGLEC5	19	52129355	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	4219013	52129355	6999628	48	1733											
ZNF419	79744	broad.mit.edu	37	chr19	58004984	58004984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtggaaaattctatagCcacaagtccaaccttatcaa	16	10	6	9	0	2	0	1	0	1	0	3	2	3	1	3	1	2	0	3	1	9	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58004984C>T	uc010ety.1	+	4	1302	c.1062C>T	c.(1060-1062)agC>agT	p.S354S	ZNF419_uc002qov.2_Silent_p.S353S|ZNF419_uc010etz.1_Silent_p.S341S|ZNF419_uc002qow.2_Silent_p.S321S|ZNF419_uc010eua.1_Silent_p.S340S|ZNF419_uc010eub.1_Silent_p.S308S|ZNF419_uc010euc.1_Silent_p.S307S	NM_001098491	NP_001091961	Q96HQ0	ZN419_HUMAN	Homo sapiens zinc finger protein 419 (ZNF419), transcript variant 1, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0252)|Lung(386;0.171)		AATTCTATAGCCACAAGTCCA	0.413													T	58004984	C	T	58004984	2	4	27	1	0	0	0	0	0	0	0	1	17997	738	26	2		2	ZNF419	19	58004984	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	5875629	58004984	1123999	49	1734											
ZNF773	374928	broad.mit.edu	37	chr19	58018486	58018486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatgtggaaaattctatagCcacaagtccagccttatcaa	15	10	7	9	0	2	0	1	0	1	0	3	2	3	1	3	1	2	0	3	1	8	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr19:58018486C>T	uc002qox.3	+	3	1163	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	ZNF773_uc002qoy.3_Silent_p.S340S|ZNF773_uc021vcl.1_Intron	NM_198542	NP_940944	Q6PK81	ZN773_HUMAN	Homo sapiens zinc finger protein 773 (ZNF773), mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AATTCTATAGCCACAAGTCCA	0.418													T	58018486	C	T	58018486	2	4	27	1	0	0	0	0	0	0	0	1	18245	738	26	2		2	ZNF773	19	58018486	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	13502	58018486	1110497	50	1735											
C20orf27	54976	broad.mit.edu	37	chr20	3735070	3735070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcctgcaccgtcacgCgcacacaggtgccagtgcca	7	4	13	17	5	1	0	1	0	0	0	1	0	1	0	4	2	3	2	4	2	0	0			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:3735070C>T	uc002wjh.1	-	4	702	c.473G>A	c.(472-474)cGc>cAc	p.R158H	C20orf27_uc002wjf.1_3'UTR|C20orf27_uc002wji.1_Missense_Mutation_p.R133H	NM_001039140	NP_001034229	Q9GZN8	CT027_HUMAN	Homo sapiens chromosome 20 open reading frame 27 (C20orf27), mRNA.	133										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						CACCGTCACGCGCACACAGGT	0.602													T	3735070	C	T	3735070	3	4	27	1	0	0	0	0	1	0	0	0	2128	768	27	1	134	1	C20orf27	20	3735070	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08		3735070	59290450	51	1736											
HAO1	54363	broad.mit.edu	37	chr20	7864254	7864254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactgtcagatcttggaaaCggccaaaggatttttcctca	11	11	9	10	1	3	1	2	0	1	1	4	3	4	3	2	3	1	1	2	3	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:7864254C>T	uc002wmw.1	-	7	1123	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I		NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	367					cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.V367F(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ATCTTGGAAACGGCCAAAGGA	0.373													T	7864254	C	T	7864254	3	4	27	1	0	0	0	0	1	0	0	0	7006	536	19	1	17	1	HAO1	20	7864254	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	4129184	7864254	55161266	52	1737											
PTK6	5753	broad.mit.edu	37	chr20	62168644	62168644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacatacttggggcccagGtgagcctggtcccgggacac	7	6	13	15	1	0	1	0	1	0	0	1	2	1	2	4	5	2	0	4	5	1	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr20:62168644G>T	uc002yfg.3	-	0	64	c.24C>A	c.(22-24)caC>caA	p.H8Q	PTK6_uc011aay.2_5'UTR|PTK6_uc011aba.2_Missense_Mutation_p.H8Q	NM_005975	NP_005966	Q13882	PTK6_HUMAN	Homo sapiens PTK6 protein tyrosine kinase 6 (PTK6), transcript variant 1, mRNA.	8						cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGGGGCCCAGGTGAGCCTGGT	0.716													T	62168644	G	T	62168644	3	4	27	1	0	0	0	0	1	0	0	0	12850	1252	44	4	1363	4	PTK6	20	62168644	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	54304390	62168644	856876	53	1738											
KRTAP13-2	337959	broad.mit.edu	37	chr21	31744289	31744289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaaggaggttctggggcgGtagcaggaggtctggcaggg	8	6	21	6	1	2	0	0	0	2	0	2	2	2	2	0	9	2	5	0	9	2	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:31744289G>A	uc002ynz.4	-	0	269	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_181621	NP_853652	Q52LG2	KR132_HUMAN	Homo sapiens keratin associated protein 13-2 (KRTAP13-2), nuclear gene encoding mitochondrial protein, mRNA.	81	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(1)|lung(14)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	21						TTCTGGGGCGGTAGCAGGAGG	0.602													A	31744289	G	A	31744289	2	1	27	1	0	0	0	0	0	0	0	1	8581	1256	44	2		2	KRTAP13-2	21	31744289	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		31744289	16385606	54	1739											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117748	46117748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcccgccgcgtgcccgTcccctcctgctgtgtcccca	2	7	9	23	5	0	0	0	0	0	0	3	0	3	0	9	0	2	1	9	0	0	0			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chr21:46117748T>C	uc002zfw.1	+	0	662	c.632T>C	c.(631-633)gTc>gCc	p.V211A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	211	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CGCGTGCCCGTCCCCTCCTGC	0.726													C	46117748	T	C	46117748	3	2	27	1	0	0	0	0	1	0	0	0	8566	1667	58	3	634	3	KRTAP10-12	21	46117748	Missense_Mutation	SNP	T	TCGA-06-0157-01A-01D-1491-08	14373459	46117748	2012147	55	1740											
EGFL6	25975	broad.mit.edu	37	chrX	13637337	13637337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctggtccaaaggaaagcGctaacttccaaactggaaca	15	8	8	10	1	1	0	0	0	1	0	3	2	3	2	2	3	4	1	2	3	5	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:13637337G>A	uc004cvj.3	+	8	1445	c.1158G>A	c.(1156-1158)gcG>gcA	p.A386A	EGFL6_uc004cvi.3_Silent_p.A386A|EGFL6_uc011mik.1_Silent_p.A287A	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	386					cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						AAAGGAAAGCGCTAACTTCCA	0.388													A	13637337	G	A	13637337	2	1	27	1	0	0	0	0	0	0	0	1	5002	1074	38	1		1	EGFL6	23	13637337	Silent	SNP	G	TCGA-06-0157-01A-01D-1491-08		13637337	141633223	56	1741											
RPS6KA3	6197	broad.mit.edu	37	chrX	20193367	20193367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaactaaacccccgaaaaAgctgatgtgcattagcacta	17	7	6	11	1	0	1	0	1	0	0	0	2	0	1	2	0	5	3	2	0	8	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:20193367A>T	uc004czu.3	-	13	1142	c.1142T>A	c.(1141-1143)cTt>cAt	p.L381H	RPS6KA3_uc011mjk.2_Missense_Mutation_p.L352H|RPS6KA3_uc004czv.3_Missense_Mutation_p.L369H|RPS6KA3_uc011mjl.2_Missense_Mutation_p.L353H|RPS6KA3_uc011mjm.2_Missense_Mutation_p.L353H	NM_004586	NP_004577	P51812	KS6A3_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 3 (RPS6KA3), mRNA.	381	AGC-kinase C-terminal.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.L381H(2)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						CCCCCGAAAAAGCTGATGTGC	0.393													T	20193367	A	T	20193367	3	4	27	1	0	0	0	0	1	0	0	0	13743	72	3	5	1116	5	RPS6KA3	23	20193367	Missense_Mutation	SNP	A	TCGA-06-0157-01A-01D-1491-08	6556030	20193367	135077193	57	1742											
XK	7504	broad.mit.edu	37	chrX	37553630	37553630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaaatgccaaaaaatGgcctctcagaggagattgag	16	6	12	7	0	1	4	1	1	1	3	2	5	1	4	2	3	1	1	2	3	4	1			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:37553630G>T	uc004ddq.3	+	1	419	c.337G>T	c.(337-339)Ggc>Tgc	p.G113C		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	113					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GCCAAAAAATGGCCTCTCAGA	0.488													T	37553630	G	T	37553630	3	4	27	1	0	0	0	0	1	0	0	0	17533	1348	47	4	343	4	XK	23	37553630	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	17360263	37553630	117716930	58	1743											
SYP	6855	broad.mit.edu	37	chrX	49048172	49048172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtctccttaaacaCgaaccacaggttgccgaccc	10	7	7	17	2	1	0	0	0	1	0	2	2	1	0	6	1	4	1	6	1	3	2			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:49048172C>T	uc004dmz.1	-	5	680	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	SYP_uc011mmz.1_Missense_Mutation_p.V104M	NM_003179	NP_003170	P08247	SYPH_HUMAN	Homo sapiens synaptophysin (SYP), mRNA.	222	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity	p.V222M(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				TCCTTAAACACGAACCACAGG	0.682													T	49048172	C	T	49048172	3	4	27	1	0	0	0	0	1	0	0	0	15558	536	19	1	281	1	SYP	23	49048172	Missense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	11494542	49048172	106222388	59	1744											
AWAT1	158833	broad.mit.edu	37	chrX	69455983	69455983	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcagggactatttcccCattacggtaagtatctcttc	10	13	6	12	1	2	0	1	0	1	0	5	1	3	1	2	2	1	2	2	2	4	6			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:69455983C>A	uc004dxy.3	+	2	290	c.249C>A	c.(247-249)ccC>ccA	p.P83P		NM_001013579	NP_001013597	Q58HT5	AWAT1_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 1 (AWAT1), mRNA.	83					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						ACTATTTCCCCATTACGGTAA	0.483													A	69455983	C	A	69455983	2	1	27	1	0	0	0	0	0	0	0	1	1239	581	21	4		4	AWAT1	23	69455983	Silent	SNP	C	TCGA-06-0157-01A-01D-1491-08	20407811	69455983	85814577	60	1745											
NONO	4841	broad.mit.edu	37	chrX	70516705	70516705	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccttgcctatagggaaCgagagcagccacccagattt	12	7	11	11	1	0	2	0	0	0	2	0	5	0	4	4	2	5	1	4	2	4	4			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:70516705C>T	uc004dzo.3	+	7	1461	c.751C>T	c.(751-753)Cga>Tga	p.R251*	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Nonsense_Mutation_p.R251*|NONO_uc004dzp.3_Nonsense_Mutation_p.R251*|NONO_uc011mpv.2_Nonsense_Mutation_p.R162*|NONO_uc004dzq.3_Nonsense_Mutation_p.R120*	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	251	DBHS.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTATAGGGAACGAGAGCAGCC	0.493			T	TFE3	papillary renal cancer								T	70516705	C	T	70516705	4	4	27	1	0	0	0	0	0	1	0	0	10610	528	19	1	769	1	NONO	23	70516705	Nonsense_Mutation	SNP	C	TCGA-06-0157-01A-01D-1491-08	1060722	70516705	84753855	61	1746											
GPR101	83550	broad.mit.edu	37	chrX	136113395	136113395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagaggagcaggtaaccgcGgcgctgggtcatcttggacg	9	7	16	9	4	2	1	1	0	1	1	2	3	2	3	1	5	2	3	1	5	2	3			TCGA-06-0157-01A-01D-1491-08	TCGA-06-0157-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b1e62d8e-24d2-4118-8cd0-3142acebdd5b	e3c99625-890c-48a0-8926-713cc7bfddf2	g.chrX:136113395G>A	uc011mwh.2	-	0	439	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	147						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R146H(1)		autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					AGGTAACCGCGGCGCTGGGTC	0.597													A	136113395	G	A	136113395	3	1	27	1	0	0	0	0	1	0	0	0	6676	1116	39	1	1090	1	GPR101	23	136113395	Missense_Mutation	SNP	G	TCGA-06-0157-01A-01D-1491-08	65596690	136113395	19157165	62	1747											
TDRD10	126668	broad.mit.edu	37	chr1	154516937	154516937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctccaccgttatgcgCgggactcgctgtctggcaga	6	8	15	12	4	1	1	0	0	1	1	3	3	2	2	2	3	1	4	2	3	1	1	rs151222618	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:154516937C>T	uc009wow.3	+	9	1579	c.741C>T	c.(739-741)cgC>cgT	p.R247R	TDRD10_uc001ffd.3_Silent_p.R247R|TDRD10_uc001ffe.3_Silent_p.R168R	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	247	Tudor.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCGTTATGCGCGGGACTCGCT	0.632													T	154516937	C	T	154516937	2	4	28	1	0	0	0	0	0	0	0	1	15831	755	27	1		1	TDRD10	1	154516937	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		154516937	94733684	1	1748											
LY9	4063	broad.mit.edu	37	chr1	160784327	160784327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagaaggttgtctggtTgtttaacacatccatcatta	12	13	8	8	0	2	1	1	0	1	1	3	2	3	1	1	2	1	3	1	2	3	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:160784327T>G	uc001fwu.3	+	3	898	c.848T>G	c.(847-849)tTg>tGg	p.L283W	LY9_uc010pjs.1_Missense_Mutation_p.L283W|LY9_uc001fwv.3_Missense_Mutation_p.L283W|LY9_uc001fww.3_Missense_Mutation_p.L283W|LY9_uc001fwy.1_Missense_Mutation_p.L185W|LY9_uc001fwz.3_5'UTR	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	283	Ig-like V-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTTGTCTGGTTGTTTAACACA	0.547													G	160784327	T	G	160784327	3	3	28	1	0	0	0	0	1	0	0	0	9172	1821	63	5	994	5	LY9	1	160784327	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	6267390	160784327	88466294	2	1749											
CR2	1380	broad.mit.edu	37	chr1	207647215	207647215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtgtggagctagttaataCgtcctgccaagatgggtgag	10	10	14	7	2	0	2	0	1	0	1	1	3	1	3	2	2	3	2	2	2	4	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:207647215C>T	uc001hfw.3	+	10	2167	c.2048C>T	c.(2047-2049)aCg>aTg	p.T683M	CR2_uc001hfv.3_Missense_Mutation_p.T742M|CR2_uc009xch.3_Missense_Mutation_p.T683M	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	683	Sushi 11.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAGTTAATACGTCCTGCCAA	0.438													T	207647215	C	T	207647215	3	4	28	1	0	0	0	0	1	0	0	0	3873	536	19	1	2271	1	CR2	1	207647215	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	46862888	207647215	41603406	3	1750											
ACBD3	64746	broad.mit.edu	37	chr1	226347010	226347010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactgttgggctgcatactGctggaactgcacggcagtct	8	11	12	10	1	1	0	0	0	1	0	1	1	1	1	0	3	6	6	0	3	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:226347010G>C	uc001hpy.3	-	4	825	c.778C>G	c.(778-780)Cag>Gag	p.Q260E		NM_022735	NP_073572	Q9H3P7	GCP60_HUMAN	Homo sapiens acyl-CoA binding domain containing 3 (ACBD3), mRNA.	260	Gln-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		GCTGCATACTGCTGGAACTGC	0.448													C	226347010	G	C	226347010	3	2	28	1	0	0	0	0	1	0	0	0	123	1328	46	4	824	4	ACBD3	1	226347010	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	18699795	226347010	22903611	4	1751											
NUP133	55746	broad.mit.edu	37	chr1	229577744	229577744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccaagctgatccgcttgTagcaggtctttcacctccgg	6	12	9	14	2	2	1	1	1	1	0	5	1	5	1	4	2	2	4	4	2	2	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:229577744T>C	uc001htn.3	-	25	3470	c.3378A>G	c.(3376-3378)ctA>ctG	p.L1126L		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	1126					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GATCCGCTTGTAGCAGGTCTT	0.343													C	229577744	T	C	229577744	2	2	28	1	0	0	0	0	0	0	0	1	10830	1625	57	3		3	NUP133	1	229577744	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08	3230734	229577744	19672877	5	1752											
OR13G1	441933	broad.mit.edu	37	chr1	247836129	247836129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcttcggtatgatgcttGttgtgcagatgatgtccaca	8	14	11	8	1	1	3	0	2	1	1	3	3	2	3	1	1	2	5	1	1	1	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:247836129G>T	uc001idi.1	-	0	215	c.215C>A	c.(214-216)aCa>aAa	p.T72K		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TATGATGCTTGTTGTGCAGAT	0.443													T	247836129	G	T	247836129	3	4	28	1	0	0	0	0	1	0	0	0	11018	1377	48	4	712	4	OR13G1	1	247836129	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	18258385	247836129	1414492	6	1753											
OR2L8	391190	broad.mit.edu	37	chr1	248112665	248112665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccatattccttattgccGatccagggccatcaatcatt	10	13	5	13	1	2	0	2	0	0	0	5	1	5	0	5	1	1	0	5	1	3	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr1:248112665G>A	uc001idt.1	+	0	506	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			CCTTATTGCCGATCCAGGGCC	0.478													A	248112665	G	A	248112665	3	1	28	1	0	0	0	0	1	0	0	0	11085	1058	37	1	508	1	OR2L8	1	248112665	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	276536	248112665	1137956	7	1754											
SLC3A1	6519	broad.mit.edu	37	chr2	44527119	44527119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctttaggaaattttaCggttctggctcacaaagggt	10	15	9	7	1	4	0	2	0	2	0	4	1	4	1	0	4	1	2	0	4	4	6			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:44527119C>T	uc002ruc.4	+	4	979	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	SLC3A1_uc002rty.3_Missense_Mutation_p.R301W|SLC3A1_uc002rtz.2_Missense_Mutation_p.R301W|SLC3A1_uc002rua.3_Missense_Mutation_p.R301W|SLC3A1_uc002rub.2_Missense_Mutation_p.R301W|SLC3A1_uc002rud.4_Missense_Mutation_p.R23W	NM_000341	NP_000332	Q07837	SLC31_HUMAN	Homo sapiens solute carrier family 3 (cystine, dibasic and neutral amino acid transporters, activator of cystine, dibasic and neutral amino acid transport), member 1 (SLC3A1), mRNA.	301					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGAAATTTTACGGTTCTGGCT	0.363													T	44527119	C	T	44527119	3	4	28	1	0	0	0	0	1	0	0	0	14720	527	19	1	919	1	SLC3A1	2	44527119	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		44527119	198672254	8	1755											
TSPYL6	388951	broad.mit.edu	37	chr2	54483145	54483145	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccggggcggtgggaaCacgattggctccaagcggcc	8	4	18	11	4	0	0	0	0	0	0	1	3	1	2	3	7	3	1	3	7	3	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:54483145C>G	uc002rxr.2	-	0	265	c.144G>C	c.(142-144)gtG>gtC	p.V48V	ACYP2_uc002rxq.4_Intron	NM_001003937	NP_001003937	Q8N831	TSYL6_HUMAN	Homo sapiens TSPY-like 6 (TSPYL6), mRNA.	48					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						GCGGTGGGAACACGATTGGCT	0.607													G	54483145	C	G	54483145	2	3	28	1	0	0	0	0	0	0	0	1	16764	465	17	4		4	TSPYL6	2	54483145	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	9956026	54483145	188716228	9	1756											
C2orf62	375307	broad.mit.edu	37	chr2	219222293	219222293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgttcttctctgagaCgctggccatggtctcagaca	7	12	11	11	1	3	2	1	1	3	2	5	4	3	2	1	2	1	3	1	2	0	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:219222293C>T	uc002vhr.3	+	2	184	c.155C>T	c.(154-156)aCg>aTg	p.T52M		NM_198559	NP_940961	Q7Z7H3	CB062_HUMAN	Homo sapiens chromosome 2 open reading frame 62 (C2orf62), mRNA.	52										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTCTCTGAGACGCTGGCCATG	0.577													T	219222293	C	T	219222293	3	4	28	1	0	0	0	0	1	0	0	0	2202	536	19	1	165	1	C2orf62	2	219222293	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	164739148	219222293	23977080	10	1757											
DES	1674	broad.mit.edu	37	chr2	220290674	220290674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcttcctccccaggtcGtcagtgaggccacacagcag	7	9	9	16	1	2	1	1	1	1	0	6	1	4	1	4	2	1	1	4	2	0	2	rs73991549	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr2:220290674G>A	uc002vll.3	+	8	1461	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	459	Tail.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	p.V459I(2)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCCCCAGGTCGTCAGTGAGGC	0.607													A	220290674	G	A	220290674	3	1	28	1	0	0	0	0	1	0	0	0	4488	1145	40	1	1409	1	DES	2	220290674	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	1068381	220290674	22908699	11	1758											
KCNH8	131096	broad.mit.edu	37	chr3	19575121	19575121	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagcacaactttgtagcAgtaatatcacctcagacatt	14	10	5	12	0	2	1	2	0	0	1	2	1	2	1	2	0	3	4	2	0	5	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:19575121A>T	uc003cbk.1	+	15	3049	c.2854A>T	c.(2854-2856)Agt>Tgt	p.S952C	KCNH8_uc010hex.1_Missense_Mutation_p.S413C	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	952	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ACTTTGTAGCAGTAATATCAC	0.532													T	19575121	A	T	19575121	3	4	28	1	0	0	0	0	1	0	0	0	8096	188	7	5	2916	5	KCNH8	3	19575121	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		19575121	178447309	12	1759											
CCR8	1237	broad.mit.edu	37	chr3	39374303	39374303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcagtatggctaaccGccattatggctaccatccca	9	9	9	14	1	0	0	0	0	0	0	1	0	1	0	5	3	2	4	5	3	4	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:39374303G>A	uc010hhr.2	+	1	619	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	CCR8_uc003cjm.2_Missense_Mutation_p.A78T|CCR8_uc021wwe.1_Missense_Mutation_p.A161T	NM_005201	NP_005192	P51685	CCR8_HUMAN	Homo sapiens chemokine (C-C motif) receptor 8 (CCR8), mRNA.	161					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		ATGGCTAACCGCCATTATGGC	0.488													A	39374303	G	A	39374303	3	1	28	1	0	0	0	0	1	0	0	0	2977	1087	38	1	483	1	CCR8	3	39374303	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	19799182	39374303	158648127	13	1760											
MST1	4485	broad.mit.edu	37	chr3	49724141	49724144	+	Frame_Shift_Del	DEL	CTCG	CTCG	-																															gcgggggaggtcacagaactCtcgctcgatctgcggatccg																										TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:49724141_49724144delCTCG	uc003cxg.3	-	6	892_895	c.820_823delCGAG	c.(820-825)cgagagfs	p.R274fs	MST1_uc011bcs.1_Frame_Shift_Del_p.S272fs|MST1_uc010hkx.2_Frame_Shift_Del_p.R195fs|MST1_uc011bct.1_Frame_Shift_Del_p.R274fs|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	260					proteolysis	extracellular region	serine-type endopeptidase activity	p.R275H(1)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCACAGAACTCTCGCTCGATCTGC	0.662													-	49724144	CTCG	-	49724141	7	5	28	1	0	1	0	1	0	0	0	0	9966	922	32	0	1402	0	MST1	3	49724141	Frame_Shift_Del	DEL	CTCG	TCGA-06-0158-01A-01D-1491-08	10349838	49724141	148298289	14	1761											
COL6A6	131873	broad.mit.edu	37	chr3	130284156	130284156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcacggaatggcagtcGgaagaatcagggggtgcccc	10	6	16	9	2	1	1	1	0	0	1	2	3	1	3	2	5	2	2	2	5	4	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr3:130284156G>A	uc010htl.3	+	2	1011	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	327	Nonhelical region.|VWFA 2.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AATGGCAGTCGGAAGAATCAG	0.532													A	130284156	G	A	130284156	3	1	28	1	0	0	0	0	1	0	0	0	3734	1116	39	1	990	1	COL6A6	3	130284156	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	80560015	130284156	67738274	15	1762											
AMBN	258	broad.mit.edu	37	chr4	71467259	71467259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaccaggccacagcacTgaaagaagcacttcagcctc	14	4	7	16	0	1	2	1	1	0	1	2	2	1	2	4	1	4	2	4	1	3	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:71467259T>A	uc003hfl.3	+	5	520	c.419T>A	c.(418-420)cTg>cAg	p.L140Q		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	140					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			GCCACAGCACTGAAAGAAGCA	0.557											OREG0016218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71467259	T	A	71467259	3	1	28	1	0	0	0	0	1	0	0	0	563	1580	55	5	441	5	AMBN	4	71467259	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08		71467259	119687017	16	1763											
ADAM29	11086	broad.mit.edu	37	chr4	175896768	175896768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaatatcacagccctcCggatgtggtgattcctgtga	8	10	9	14	1	1	2	1	2	0	0	3	3	3	3	5	2	1	0	5	2	2	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr4:175896768C>T	uc003iuc.3	+	4	762	c.92C>T	c.(91-93)cCg>cTg	p.P31L	ADAM29_uc003iud.3_Missense_Mutation_p.P31L|ADAM29_uc010irr.3_Missense_Mutation_p.P31L|ADAM29_uc011cki.2_Missense_Mutation_p.P31L|ADAM29_uc021xuo.1_Missense_Mutation_p.P31L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	31			P -> L (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.P31L(4)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CACAGCCCTCCGGATGTGGTG	0.517													T	175896768	C	T	175896768	3	4	28	1	0	0	0	0	1	0	0	0	247	652	23	1	94	1	ADAM29	4	175896768	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	104429509	175896768	15257508	17	1764											
ZDHHC11	79844	broad.mit.edu	37	chr5	837585	837585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatactcaaaggtggtcatCttcttggcctctggaaaggg	10	11	12	8	0	5	1	2	0	3	1	5	2	5	2	1	5	1	0	1	5	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:837585C>T	uc011cma.1	-	5	1179	c.795G>A	c.(793-795)aaG>aaA	p.K265K	ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	265						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			AGGTGGTCATCTTCTTGGCCT	0.502													T	837585	C	T	837585	2	4	28	1	0	0	0	0	0	0	0	1	17702	912	32	2		2	ZDHHC11	5	837585	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		837585	180077675	18	1765											
EDIL3	10085	broad.mit.edu	37	chr5	83433171	83433171	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttcgcattcatttatGtctaagaaaaacagaaagga	17	11	6	7	1	3	2	2	0	1	2	4	3	3	3	0	1	2	1	0	1	6	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:83433171G>A	uc003kio.1	-	5	775	c.356_splice	c.e5-1	p.N119_splice	EDIL3_uc003kip.1_Splice_Site_p.N109_splice	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	119	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		ATTCATTTATGTCTAAGAAAA	0.338													A	83433171	G	A	83433171	2	1	28	1	0	0	0	0	0	0	0	1	4954	1391	48	2		2	EDIL3	5	83433171	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	82595586	83433171	97482089	19	1766											
PCDHGC5	56106	broad.mit.edu	37	chr5	140794507	140794507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccccgctccgcagagcccGgctacctggtgaccaaggtg	6	5	13	17	4	0	2	0	1	0	1	1	2	1	2	6	3	2	3	6	3	2	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr5:140794507G>A	uc003lkl.2	+	0	1765	c.1765G>A	c.(1765-1767)Ggc>Agc	p.G589S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc011day.2_Missense_Mutation_p.G589S|PCDHGC5_uc003lkm.3_5'Flank|PCDHGC5_uc003lkn.2_5'Flank	NM_018913	NP_061736	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 10 (PCDHGA10), transcript variant 1, mRNA.	586	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677													A	140794507	G	A	140794507	3	1	28	1	0	0	0	0	1	0	0	0	11647	1116	39	1		1	PCDHGC5	5	140794507	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	57361336	140794507	40120753	20	1767											
TRIM38	10475	broad.mit.edu	37	chr6	25966964	25966964	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcatatggatagcctcCgacccaacaagcagctggga	12	8	9	12	1	1	0	1	0	0	0	2	3	2	2	3	2	4	2	3	2	4	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:25966964C>T	uc003nfm.3	+	2	649	c.214C>T	c.(214-216)Cga>Tga	p.R72*		NM_006355	NP_006346	O00635	TRI38_HUMAN	Homo sapiens tripartite motif containing 38 (TRIM38), mRNA.	72					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						GGATAGCCTCCGACCCAACAA	0.498													T	25966964	C	T	25966964	4	4	28	1	0	0	0	0	0	1	0	0	16613	644	23	1	216	1	TRIM38	6	25966964	Nonsense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		25966964	145148103	21	1768											
HLA-F	3134	broad.mit.edu	37	chr6	29694676	29694676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcctactcagtggtcagCggaaacttgatgataacatg	13	9	10	9	1	2	2	2	2	0	0	2	3	2	3	1	2	5	0	1	2	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:29694676C>T	uc003nno.4	+	6	1177	c.1053C>T	c.(1051-1053)agC>agT	p.S351S	HLA-F_uc011dlx.1_Silent_p.S351S|HLA-F_uc011dly.1_Non-coding_Transcript|HLA-F-AS1_uc003nnp.2_Non-coding_Transcript|HLA-F-AS1_uc011dlz.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	0					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CAGTGGTCAGCGGAAACTTGA	0.493													T	29694676	C	T	29694676	2	4	28	1	0	0	0	0	0	0	0	1	7266	767	27	1		1	HLA-F	6	29694676	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	3727712	29694676	141420391	22	1769											
CRISP3	10321	broad.mit.edu	37	chr6	49704218	49704218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagcagtaaaagcgggAtcctaagggaaaataaaatt	21	6	9	5	1	0	0	0	0	0	0	1	2	1	2	1	2	3	2	1	2	9	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr6:49704218A>G	uc021zai.1	-	2	232	c.144T>C	c.(142-144)gaT>gaC	p.D48D	CRISP3_uc003ozs.3_Silent_p.D38D	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	25					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TAAAAGCGGGATCCTAAGGGA	0.363													G	49704218	A	G	49704218	2	3	28	1	0	0	0	0	0	0	0	1	3912	330	12	3		3	CRISP3	6	49704218	Silent	SNP	A	TCGA-06-0158-01A-01D-1491-08	20009542	49704218	121410849	23	1770											
POM121L12	285877	broad.mit.edu	37	chr7	53103391	53103391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctccggccgagtcCgcagacctcgggaacttctg	6	7	13	15	4	1	1	0	0	1	1	4	3	3	2	4	2	3	4	4	2	1	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:53103391C>T	uc003tpz.3	+	0	43	c.27C>T	c.(25-27)tcC>tcT	p.S9S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	9										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGCCGAGTCCGCAGACCTCG	0.697													T	53103391	C	T	53103391	2	4	28	1	0	0	0	0	0	0	0	1	12318	639	23	1		1	POM121L12	7	53103391	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08		53103391	106035272	24	1771											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	28	1	0	0	0	0	1	0	0	0	5006	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	2107689	55211080	103927583	25	1772											
EGFR	1956	broad.mit.edu	37	chr7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T																															cccactgcgtcaagacctgcCcggcaggagtcatgggagaa																										TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233036C>T	uc003tqk.3	+	14	2032	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233036	C	T	55233036	3	4	28	1	0	0	0	0	1	0	0	0	5006	623	22	2	1855	2	EGFR	7	55233036	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	21956	55233036	103905627	26	1773	1	2									
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C																															cgtcaagacctgcccggcagGagtcatgggagaaaacaaca																								rs139236063		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:55233043G>C	uc003tqk.3	+	14	2039	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55233043	G	C	55233043	3	2	28	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	7	55233043	103905620	27	1774	1	2									
PCLO	27445	broad.mit.edu	37	chr7	82764904	82764904	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgggctggggtgatgaCggaactggagccagatcccc	8	8	16	9	1	0	3	0	2	0	1	1	5	1	5	3	5	2	2	3	5	1	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:82764904C>T	uc003uhx.2	-	2	2251	c.1962G>A	c.(1960-1962)ccG>ccA	p.P654P	PCLO_uc003uhv.2_Silent_p.P654P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	600	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P654P(3)|p.P600P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGGGTGATGACGGAACTGGAG	0.478													T	82764904	C	T	82764904	2	4	28	1	0	0	0	0	0	0	0	1	11659	523	19	1		1	PCLO	7	82764904	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	27531861	82764904	76373759	28	1775											
NPTX2	4885	broad.mit.edu	37	chr7	98254472	98254472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcgagctgctcatcaaCgacaaggtgaggcccgcctg	9	6	11	15	3	2	1	2	1	0	0	3	3	2	1	3	2	3	2	3	2	2	0	rs149672697		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:98254472C>T	uc003upl.2	+	2	1059	c.882C>T	c.(880-882)aaC>aaT	p.N294N		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	294	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.N294N(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTCATCAACGACAAGGTGA	0.667													T	98254472	C	T	98254472	2	4	28	1	0	0	0	0	0	0	0	1	10679	535	19	1		1	NPTX2	7	98254472	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	15489568	98254472	60884191	29	1776											
LAMB1	3912	broad.mit.edu	37	chr7	107600136	107600136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcttttgaggaacctacGtttgcatccactggggccaa	10	11	10	10	1	0	1	0	1	0	0	1	2	1	2	3	3	4	3	3	3	4	4	rs140619520		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:107600136G>A	uc003vev.2	-	17	2691	c.2530_splice	c.e17+1	p.P844_splice	LAMB1_uc003vew.2_Splice_Site_p.P820_splice|LAMB1_uc003vex.3_Missense_Mutation_p.R820C	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	820	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent	p.P820S(1)		NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGGAACCTACGTTTGCATCCA	0.527													A	107600136	G	A	107600136	3	1	28	1	0	0	0	0	1	0	0	0	8669	1159	40	1	2966	1	LAMB1	7	107600136	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	9345664	107600136	51538527	30	1777											
ASB15	142685	broad.mit.edu	37	chr7	123276864	123276864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcccgatttcttttagaGaatccttgttcattgaagca	9	18	6	8	1	2	2	1	1	1	1	4	4	4	2	2	0	1	2	2	0	3	8			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:123276864G>A	uc003vku.1	+	12	1887	c.1595_splice	c.e12-1	p.E532_splice	ASB15_uc003vkw.1_Splice_Site_p.E532_splice	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	532	SOCS box.				intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TTCTTTTAGAGAATCCTTGTT	0.383													A	123276864	G	A	123276864	2	1	28	1	0	0	0	0	0	0	0	1	1024	956	33	2		2	ASB15	7	123276864	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	15676728	123276864	35861799	31	1778											
NUP205	23165	broad.mit.edu	37	chr7	135300745	135300745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtaacctctctgaatcGtcagcggtcacatacccaga	12	8	9	12	2	3	2	2	1	1	1	5	2	3	2	2	2	3	1	2	2	4	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr7:135300745G>A	uc003vsw.3	+	23	3423	c.3392G>A	c.(3391-3393)cGt>cAt	p.R1131H		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1131					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TCTCTGAATCGTCAGCGGTCA	0.403													A	135300745	G	A	135300745	3	1	28	1	0	0	0	0	1	0	0	0	10835	1145	40	1	3486	1	NUP205	7	135300745	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	12023881	135300745	23837918	32	1779											
TRPA1	8989	broad.mit.edu	37	chr8	72948640	72948640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaaaatgatgcccgtcGtgtagataatccattcaaga	15	9	8	9	2	1	3	1	1	0	2	3	3	2	3	2	0	1	2	2	0	5	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr8:72948640G>A	uc003xza.3	-	20	2613	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	813						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GATGCCCGTCGTGTAGATAAT	0.363													A	72948640	G	A	72948640	3	1	28	1	0	0	0	0	1	0	0	0	16678	1145	40	1	949	1	TRPA1	8	72948640	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		72948640	73415382	33	1780											
SPTAN1	6709	broad.mit.edu	37	chr9	131395212	131395212	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagggaaagccttacgTgaccaaggaggagctctacc	12	6	12	11	1	2	2	1	1	1	1	2	5	2	5	3	3	4	1	3	3	4	2	rs148173166		TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:131395212T>A	uc004bvl.4	+	54	7413	c.7271T>A	c.(7270-7272)gTg>gAg	p.V2424E	SPTAN1_uc004bvm.4_Missense_Mutation_p.V2429E|SPTAN1_uc004bvn.4_Missense_Mutation_p.V2404E|SPTAN1_uc004bvo.4_Missense_Mutation_p.V191E	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	2424	EF-hand 3.				actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						AAGCCTTACGTGACCAAGGAG	0.547													A	131395212	T	A	131395212	3	1	28	1	0	0	0	0	1	0	0	0	15213	1696	59	5	7504	5	SPTAN1	9	131395212	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08		131395212	9818219	34	1781											
C9orf171	389799	broad.mit.edu	37	chr9	135374872	135374872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccggcctggtgactgcccggGagaacttgctctaccgtcag	6	8	13	14	3	2	2	1	1	1	1	2	3	2	2	4	3	4	1	4	3	2	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr9:135374872G>C	uc004cbn.3	+	3	565	c.517G>C	c.(517-519)Gag>Cag	p.E173Q	C9orf171_uc004cbo.3_Missense_Mutation_p.E137Q	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	173								p.R172W(1)		large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						GACTGCCCGGGAGAACTTGCT	0.592													C	135374872	G	C	135374872	3	2	28	1	0	0	0	0	1	0	0	0	2496	1175	41	4	531	4	C9orf171	9	135374872	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	3979660	135374872	5838559	35	1782											
ANXA8L1	653145	broad.mit.edu	37	chr10	47158869	47158869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccaggctcagcagggCgttcttgtagtcgccgctgg	5	8	14	14	3	2	0	1	0	1	0	3	0	2	0	3	3	1	5	3	3	1	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr10:47158869C>T	uc010qfr.2	-	11	1270	c.1264G>A	c.(1264-1266)Gcc>Acc	p.A422T	ANXA8L1_uc001jed.4_Intron|ANXA8L1_uc001jeh.3_Missense_Mutation_p.A318T|ANXA8L1_uc010qfs.2_Missense_Mutation_p.A322T|ANXA8L1_uc010qft.2_Non-coding_Transcript|ANXA8L1_uc010qfu.1_Missense_Mutation_p.A139T	NM_001098845	NP_001092315	Q5T2P8	AXA81_HUMAN	Homo sapiens annexin A8-like 1 (ANXA8L1), mRNA.	318							calcium ion binding|calcium-dependent phospholipid binding			large_intestine(1)|lung(1)	2						CTCAGCAGGGCGTTCTTGTAG	0.597													T	47158869	C	T	47158869	3	4	28	1	0	0	0	0	1	0	0	0	725	768	27	1	35	1	ANXA8L1	10	47158869	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		47158869	88375878	36	1783											
ANO5	203859	broad.mit.edu	37	chr11	22291884	22291884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgaattggtggagacgccGaaaagctcggacaaactctg	12	9	12	8	3	1	2	0	1	1	1	2	5	1	3	1	3	2	1	1	3	4	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:22291884G>A	uc001mqi.2	+	17	2242	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ANO5_uc001mqj.2_Missense_Mutation_p.R641Q	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	642						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGGAGACGCCGAAAAGCTCGG	0.413													A	22291884	G	A	22291884	3	1	28	1	0	0	0	0	1	0	0	0	700	1058	37	1	1995	1	ANO5	11	22291884	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		22291884	112714632	37	1784											
GDPD4	220032	broad.mit.edu	37	chr11	76956338	76956338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacttaccagatgttgctcGattttagaggcaaggatcac	12	11	10	8	1	1	3	1	0	0	3	2	5	1	4	1	2	2	3	1	2	3	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:76956338G>A	uc001oyf.3	-	10	1325	c.1074C>T	c.(1072-1074)atC>atT	p.I358I		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	358	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						GATGTTGCTCGATTTTAGAGG	0.438													A	76956338	G	A	76956338	2	1	28	1	0	0	0	0	0	0	0	1	6382	1048	37	1		1	GDPD4	11	76956338	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	54664454	76956338	58050178	38	1785											
GRM5	2915	broad.mit.edu	37	chr11	88338071	88338071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccataggccatcgaatagatGgcgttgatcacaaatcccat	13	9	8	11	2	1	2	1	1	0	1	3	3	2	2	3	2	0	1	3	2	4	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:88338071G>A	uc001pcq.3	-	3	1409	c.1209C>T	c.(1207-1209)gcC>gcT	p.A403A	GRM5_uc009yvm.3_Silent_p.A403A	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	403					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCGAATAGATGGCGTTGATCA	0.458													A	88338071	G	A	88338071	2	1	28	1	0	0	0	0	0	0	0	1	6855	1335	47	2		2	GRM5	11	88338071	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	11381733	88338071	46668445	39	1786											
NAALAD2	10003	broad.mit.edu	37	chr11	89902152	89902152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatatcaactcggattcatCtatagaaggtaaattttatt	14	17	5	5	1	3	1	2	0	1	1	4	2	3	2	0	2	1	1	0	2	9	9			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr11:89902152C>G	uc001pdf.4	+	11	1443	c.1334C>G	c.(1333-1335)tCt>tGt	p.S445C	NAALAD2_uc009yvx.3_Missense_Mutation_p.S412C|NAALAD2_uc009yvy.3_Intron	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	445	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TCGGATTCATCTATAGAAGGT	0.294													G	89902152	C	G	89902152	3	3	28	1	0	0	0	0	1	0	0	0	10204	913	32	4	1380	4	NAALAD2	11	89902152	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	1564081	89902152	45104364	40	1787											
APOF	319	broad.mit.edu	37	chr12	56755752	56755752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagaacttgggtagaggggCcatgtggctgaaaccaggca	12	6	15	8	0	0	3	0	1	0	2	0	3	0	3	2	5	2	3	2	5	4	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:56755752C>G	uc001sle.1	-	1	292	c.238G>C	c.(238-240)Gcc>Ccc	p.A80P		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	80					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GGTAGAGGGGCCATGTGGCTG	0.547													G	56755752	C	G	56755752	3	3	28	1	0	0	0	0	1	0	0	0	806	739	26	4	746	4	APOF	12	56755752	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		56755752	77096143	41	1788											
MDM1	56890	broad.mit.edu	37	chr12	68716856	68716856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taaaagttgatgaataccttCctttcaggagacactgtttc	12	14	7	8	0	1	3	1	2	0	1	3	4	2	3	2	1	1	2	2	1	4	6			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr12:68716856C>T	uc001stz.2	-	4	934	c.798G>A	c.(796-798)agG>agA	p.R266R	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Silent_p.R221R	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	266						nucleus		p.R266G(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TGAATACCTTCCTTTCAGGAG	0.328													T	68716856	C	T	68716856	2	4	28	1	0	0	0	0	0	0	0	1	9487	854	30	2		2	MDM1	12	68716856	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	11961104	68716856	65135039	42	1789											
RALGAPA1	253959	broad.mit.edu	37	chr14	36211763	36211763	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcttcacaaattggtaaTaaaaatgcctagggaaaaaa	18	9	8	6	0	1	0	1	0	0	0	1	1	1	1	1	2	2	3	1	2	9	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr14:36211763T>C	uc001wtj.3	-	10	1651	c.1260A>G	c.(1258-1260)ttA>ttG	p.L420L	RALGAPA1_uc001wti.3_Silent_p.L420L|RALGAPA1_uc010tpv.2_Silent_p.L420L|RALGAPA1_uc010tpw.1_Silent_p.L420L|RALGAPA1_uc001wtk.1_Silent_p.L271L	NM_194301	NP_919277	Q6GYQ0	RGPA1_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 1 (catalytic) (RALGAPA1), transcript variant 2, mRNA.	420					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAATTGGTAATAAAAATGCCT	0.353													C	36211763	T	C	36211763	2	2	28	1	0	0	0	0	0	0	0	1	13101	1403	49	3		3	RALGAPA1	14	36211763	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08		36211763	71137777	43	1790											
RFX7	64864	broad.mit.edu	37	chr15	56435018	56435018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggcagtgaagtctccGgatgttcctctagggtattc	6	14	13	8	1	2	1	0	1	2	0	5	2	3	2	2	3	0	4	2	3	3	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr15:56435018G>A	uc010bfn.3	-	3	359	c.359C>T	c.(358-360)cCg>cTg	p.P120L		NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	23					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGAAGTCTCCGGATGTTCCTC	0.388													A	56435018	G	A	56435018	3	1	28	1	0	0	0	0	1	0	0	0	13356	1116	39	1	4047	1	RFX7	15	56435018	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		56435018	46096374	44	1791											
WDR90	197335	broad.mit.edu	37	chr16	703568	703568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagctcactattggcctCggcccaggcaagggccccta	8	6	11	16	1	1	0	1	0	0	0	2	0	1	0	4	4	2	3	4	4	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr16:703568C>T	uc002cii.1	+	11	1331	c.1277C>T	c.(1276-1278)tCg>tTg	p.S426L	WDR90_uc002cig.1_Missense_Mutation_p.S426L|WDR90_uc002cih.1_Missense_Mutation_p.S427L|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	426										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CTATTGGCCTCGGCCCAGGCA	0.657													T	703568	C	T	703568	3	4	28	1	0	0	0	0	1	0	0	0	17439	893	31	1	1323	1	WDR90	16	703568	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		703568	89651185	45	1792											
SLC25A11	8402	broad.mit.edu	37	chr17	4842250	4842250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggtgtaggtggcctgaCgcagcaggccagccgacagc	8	6	16	11	2	0	1	0	1	0	0	0	2	0	1	3	4	3	3	3	4	2	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:4842250C>T	uc002fzo.2	-	2	526	c.269G>A	c.(268-270)cGt>cAt	p.R90H	SLC25A11_uc002fzp.2_Missense_Mutation_p.R86H|SLC25A11_uc021tod.1_Missense_Mutation_p.R79H|SLC25A11_uc021toe.1_Missense_Mutation_p.R39H|RNF167_uc002fzs.3_5'Flank|RNF167_uc002fzw.2_5'Flank|RNF167_uc002fzu.3_5'Flank	NM_003562	NP_003553	Q02978	M2OM_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11 (SLC25A11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	90					gluconeogenesis	integral to plasma membrane|mitochondrial inner membrane	oxoglutarate:malate antiporter activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GGTGGCCTGACGCAGCAGGCC	0.612													T	4842250	C	T	4842250	3	4	28	1	0	0	0	0	1	0	0	0	14567	536	19	1	699	1	SLC25A11	17	4842250	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		4842250	76352960	46	1793											
TMEM102	284114	broad.mit.edu	37	chr17	7340213	7340213	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaccaccgtcctcctggcTacccctgagccccctcgccg	4	8	7	22	3	1	1	1	1	0	0	4	1	3	1	9	1	2	1	9	1	1	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:7340213T>A	uc002ggx.1	+	2	1188	c.915T>A	c.(913-915)gcT>gcA	p.A305A	SPEM1_uc010vtw.1_Intron|TMEM102_uc002ggy.2_Silent_p.A305A|FGF11_uc010cmh.1_5'Flank|FGF11_uc010cmi.3_5'Flank|FGF11_uc002ggz.3_5'Flank	NM_178518	NP_848613	Q8N9M5	TM102_HUMAN	Homo sapiens transmembrane protein 102 (TMEM102), mRNA.	305					regulation of apoptosis|response to cytokine stimulus|signal transduction	cell surface|integral to membrane|intracellular	protein binding			kidney(1)|lung(3)|skin(1)	5		Prostate(122;0.173)				TCCTCCTGGCTACCCCTGAGC	0.721													A	7340213	T	A	7340213	2	1	28	1	0	0	0	0	0	0	0	1	16117	1509	53	5		5	TMEM102	17	7340213	Silent	SNP	T	TCGA-06-0158-01A-01D-1491-08	2497963	7340213	73854997	47	1794											
KRBA2	124751	broad.mit.edu	37	chr17	8274702	8274702	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagccttctaaataatTccaatctttggtcatatttt	11	18	5	7	0	3	1	1	1	2	1	4	2	4	1	2	1	1	0	2	1	5	9			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:8274702T>G	uc002glf.1	-	0	157	c.151A>C	c.(151-153)Aat>Cat	p.N51H	KRBA2_uc002glg.1_Intron	NM_213597	NP_998762	Q6ZNG9	KRBA2_HUMAN	Homo sapiens KRAB-A domain containing 2 (KRBA2), mRNA.	51	KRAB.				DNA integration|regulation of transcription, DNA-dependent	intracellular	DNA binding	p.N51K(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(5)|stomach(1)|urinary_tract(1)	18						TCTAAATAATTCCAATCTTTG	0.453													G	8274702	T	G	8274702	3	3	28	1	0	0	0	0	1	0	0	0	8498	1783	62	5	1335	5	KRBA2	17	8274702	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	934489	8274702	72920508	48	1795											
UNC45B	146862	broad.mit.edu	37	chr17	33497185	33497185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgacgctgggcagtggagGgcctggcctacctcacgctg	5	6	15	15	3	1	0	1	0	0	0	1	2	1	1	4	4	1	3	4	4	1	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:33497185G>A	uc002hja.3	+	11	1697	c.1600G>A	c.(1600-1602)Ggc>Agc	p.G534S	UNC45B_uc002hjb.3_Missense_Mutation_p.G534S|UNC45B_uc002hjc.3_Missense_Mutation_p.G534S|UNC45B_uc010cto.3_Intron	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	534					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGCAGTGGAGGGCCTGGCCTA	0.627													A	33497185	G	A	33497185	3	1	28	1	0	0	0	0	1	0	0	0	17091	1232	43	2	1642	2	UNC45B	17	33497185	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	25222483	33497185	47698025	49	1796											
TMC6	11322	broad.mit.edu	37	chr17	76120076	76120076	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggcattacctgtacAccagggtgatgcaggtgata	10	9	15	7	0	0	2	0	2	0	0	0	3	0	3	2	5	3	3	2	5	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76120076A>C	uc002juj.1	-	7	1202	c.1076T>G	c.(1075-1077)gTg>gGg	p.V359G	TMC6_uc002jui.1_5'Flank|TMC6_uc010dhf.1_Missense_Mutation_p.V192G|TMC6_uc002juk.2_Missense_Mutation_p.V359G|TMC6_uc010dhg.1_Missense_Mutation_p.V359G|TMC6_uc002jul.1_Missense_Mutation_p.V359G|TMC6_uc002jum.4_Missense_Mutation_p.V150G|TMC6_uc002jun.4_Missense_Mutation_p.V359G|TMC6_uc002juo.2_Missense_Mutation_p.V132G	NM_007267	NP_009198	Q7Z403	TMC6_HUMAN	Homo sapiens transmembrane channel-like 6 (TMC6), transcript variant 2, mRNA.	359						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TTACCTGTACACCAGGGTGAT	0.552													C	76120076	A	C	76120076	3	2	28	1	0	0	0	0	1	0	0	0	16089	159	6	5	1389	5	TMC6	17	76120076	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08	42622891	76120076	5075134	50	1797											
CANT1	124583	broad.mit.edu	37	chr17	76989644	76989644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gttttgagttaaatgaactcGatgccttcgtatttcacgct	9	16	8	8	3	1	2	1	2	0	0	3	3	1	2	1	0	2	4	1	0	4	6			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:76989644G>C	uc002jwj.3	-	3	1689	c.1194C>G	c.(1192-1194)atC>atG	p.I398M	CANT1_uc002jwn.3_Missense_Mutation_p.I398M|CANT1_uc002jwk.3_Missense_Mutation_p.I398M|CANT1_uc002jwl.2_Intron	NM_138793	NP_620148	Q8WVQ1	CANT1_HUMAN	Homo sapiens calcium activated nucleotidase 1 (CANT1), transcript variant 1, mRNA.	398					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AAATGAACTCGATGCCTTCGT	0.478			T	ETV4	prostate						OREG0024788	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	76989644	G	C	76989644	3	2	28	1	0	0	0	0	1	0	0	0	2643	1048	37	4	15	4	CANT1	17	76989644	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	869568	76989644	4205566	51	1798											
RPTOR	57521	broad.mit.edu	37	chr17	78797000	78797000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcagcccgcgtctgccGcccacgtacatgcacgccat	7	6	10	18	5	2	0	1	0	1	0	2	0	2	0	4	0	5	3	4	0	1	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr17:78797000G>A	uc002jyt.1	+	8	1918	c.1113G>A	c.(1111-1113)ccG>ccA	p.P371P	RPTOR_uc002jys.3_Silent_p.P371P|RPTOR_uc010wuf.1_Silent_p.P186P|RPTOR_uc010wug.1_Silent_p.P371P	NM_020761	NP_065812	Q8N122	RPTOR_HUMAN	Homo sapiens regulatory associated protein of MTOR, complex 1 (RPTOR), transcript variant 1, mRNA.	371					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CGCGTCTGCCGCCCACGTACA	0.562													A	78797000	G	A	78797000	2	1	28	1	0	0	0	0	0	0	0	1	13756	1074	38	1		1	RPTOR	17	78797000	Silent	SNP	G	TCGA-06-0158-01A-01D-1491-08	1807356	78797000	2398210	52	1799											
TMX3	54495	broad.mit.edu	37	chr18	66377374	66377374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaatggccacaccatggcGcataaaacttgttttaaaaa	16	10	6	9	1	0	0	0	0	0	0	0	0	0	0	2	2	2	2	2	2	7	5			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:66377374G>A	uc002lkf.3	-	3	284	c.149C>T	c.(148-150)gCg>gTg	p.A50V	TMX3_uc010xez.2_5'UTR|TMX3_uc010xfa.1_Missense_Mutation_p.A50V|TMX3_uc002lkg.4_Missense_Mutation_p.A50V	NM_019022	NP_061895	Q96JJ7	TMX3_HUMAN	Homo sapiens thioredoxin-related transmembrane protein 3 (TMX3), mRNA.	50	Thioredoxin.				cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						ACACCATGGCGCATAAAACTT	0.323													A	66377374	G	A	66377374	3	1	28	1	0	0	0	0	1	0	0	0	16368	1087	38	1	1267	1	TMX3	18	66377374	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08		66377374	11699874	53	1800											
RTTN	25914	broad.mit.edu	37	chr18	67718690	67718690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagggccacggtaacaaaCgggagtgtgatggcaccagc	11	4	15	11	2	0	1	0	1	0	0	0	2	0	2	3	4	3	2	3	4	2	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr18:67718690C>T	uc002lkp.2	-	38	5348	c.5280G>A	c.(5278-5280)ccG>ccA	p.P1760P	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.P848P|RTTN_uc010dqp.2_Silent_p.P12P	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1760							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CGGTAACAAACGGGAGTGTGA	0.428													T	67718690	C	T	67718690	2	4	28	1	0	0	0	0	0	0	0	1	13828	523	19	1		1	RTTN	18	67718690	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	1341316	67718690	10358558	54	1801											
ODF3L2	284451	broad.mit.edu	37	chr19	463966	463966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccctggctttgttcaCggtgacctgctctgggcagt	4	12	14	11	1	2	1	1	1	1	0	2	2	2	2	2	4	2	4	2	4	0	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:463966C>T	uc002lor.3	-	3	984	c.748G>A	c.(748-750)Gtg>Atg	p.V250M	SHC2_uc002loq.4_5'Flank|ODF3L2_uc010drp.3_Missense_Mutation_p.V214M	NM_182577	NP_872383	Q3SX64	OD3L2_HUMAN	Homo sapiens outer dense fiber of sperm tails 3-like 2 (ODF3L2), mRNA.	250										large_intestine(1)|lung(2)	3						GCTTTGTTCACGGTGACCTGC	0.731													T	463966	C	T	463966	3	4	28	1	0	0	0	0	1	0	0	0	10908	536	19	1	125	1	ODF3L2	19	463966	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		463966	58665017	55	1802											
PIAS4	51588	broad.mit.edu	37	chr19	4012940	4012940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacatggtgatgagttttcGagtctccgaccttcagatgc	9	12	11	9	2	2	3	1	2	1	1	4	6	2	3	2	1	2	1	2	1	1	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:4012940G>A	uc002lzg.3	+	1	57	c.47G>A	c.(46-48)cGa>cAa	p.R16Q		NM_015897	NP_056981	Q8N2W9	PIAS4_HUMAN	Homo sapiens protein inhibitor of activated STAT, 4 (PIAS4), mRNA.	16	SAP.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding	p.R16L(2)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		ATGAGTTTTCGAGTCTCCGAC	0.597													A	4012940	G	A	4012940	3	1	28	1	0	0	0	0	1	0	0	0	11955	1058	37	1	53	1	PIAS4	19	4012940	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	3548974	4012940	55116043	56	1803											
ICAM4	3386	broad.mit.edu	37	chr19	10398368	10398368	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaagcctggagcgcttcaCcggcctggatctggccaacg	8	6	13	14	4	2	0	1	0	1	0	2	3	2	2	4	4	3	1	4	4	2	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:10398368C>G	uc002mnr.2	+	1	520	c.474C>G	c.(472-474)caC>caG	p.H158Q	ICAM4_uc002mns.2_Missense_Mutation_p.T184S|ICAM4_uc002mnt.2_Missense_Mutation_p.T184S|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GAGCGCTTCACCGGCCTGGAT	0.627													G	10398368	C	G	10398368	3	3	28	1	0	0	0	0	1	0	0	0	7540	507	18	4	557	4	ICAM4	19	10398368	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	6385428	10398368	48730615	57	1804											
RGL3	57139	broad.mit.edu	37	chr19	11526629	11526629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtccacacctgaggCggctcctcttcctgctctcg	4	11	8	18	2	3	1	1	1	2	0	7	1	6	1	5	2	1	2	5	2	0	1			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:11526629C>T	uc002mro.2	-	4	685	c.621G>A	c.(619-621)ccG>ccA	p.P207P	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Silent_p.P207P	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	207					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						ACACCTGAGGCGGCTCCTCTT	0.567													T	11526629	C	T	11526629	2	4	28	1	0	0	0	0	0	0	0	1	13366	755	27	1		1	RGL3	19	11526629	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	1128261	11526629	47602354	58	1805											
ZNF91	7644	broad.mit.edu	37	chr19	23545038	23545038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtaagggttgagagctgcTtaaaagctttgccacattct	11	13	10	7	0	1	1	0	1	1	1	1	2	1	1	1	1	4	5	1	1	4	6			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:23545038T>C	uc002nre.3	-	3	856	c.743A>G	c.(742-744)aAg>aGg	p.K248R	ZNF91_uc010xrj.2_Missense_Mutation_p.K216R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGAGAGCTGCTTAAAAGCTTT	0.363													C	23545038	T	C	23545038	3	2	28	1	0	0	0	0	1	0	0	0	18299	1609	56	3	2836	3	ZNF91	19	23545038	Missense_Mutation	SNP	T	TCGA-06-0158-01A-01D-1491-08	12018409	23545038	35583945	59	1806											
HIPK4	147746	broad.mit.edu	37	chr19	40886782	40886782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcccctccacttgcagCgagaggcggtagctgcgcag	6	7	14	14	3	0	1	0	0	0	1	2	2	2	1	3	3	4	5	3	3	1	3	rs148513270	byFrequency	TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:40886782C>T	uc002onp.3	-	2	1401	c.1116G>A	c.(1114-1116)tcG>tcA	p.S372S		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	372						cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCACTTGCAGCGAGAGGCGGT	0.667													T	40886782	C	T	40886782	2	4	28	1	0	0	0	0	0	0	0	1	7174	755	27	1		1	HIPK4	19	40886782	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	17341744	40886782	18242201	60	1807											
NLRP11	204801	broad.mit.edu	37	chr19	56320789	56320789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccagcaaacacagaCgttttaggagacctaggtga	13	7	11	10	1	0	3	0	1	0	2	0	4	0	3	2	2	4	3	2	2	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr19:56320789C>T	uc010ygf.2	-	4	1898	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP11_uc002qlz.3_Missense_Mutation_p.R297H|NLRP11_uc002qmb.3_Missense_Mutation_p.R297H|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	396	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAACACAGACGTTTTAGGAG	0.493													T	56320789	C	T	56320789	3	4	28	1	0	0	0	0	1	0	0	0	10549	536	19	1	1946	1	NLRP11	19	56320789	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08	15434007	56320789	2808194	61	1808											
SEMG2	6406	broad.mit.edu	37	chr20	43836290	43836290	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaggcagagaccatgatAaatcaaaaggtcattttcac	18	8	8	7	0	3	3	3	1	0	2	3	4	3	3	1	2	0	1	1	2	6	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:43836290A>G	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.K118E|SEMG2_uc002xnj.2_Missense_Mutation_p.K118E	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AGACCATGATAAATCAAAAGG	0.408													G	43836290	A	G	43836290	3	3	28	1	0	0	0	0	1	0	0	0	14138	363	13	3		3	SEMG2	20	43836290	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		43836290	19189230	62	1809											
MC3R	4159	broad.mit.edu	37	chr20	54824329	54824329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgccgtcgacaggtacGtcaccatcttttacgcgctc	7	10	8	16	6	2	0	1	0	1	0	5	1	2	0	3	1	2	2	3	1	2	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr20:54824329G>A	uc002xxb.2	+	0	542	c.430G>A	c.(430-432)Gtc>Atc	p.V144I		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	181					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGACAGGTACGTCACCATCTT	0.582													A	54824329	G	A	54824329	3	1	28	1	0	0	0	0	1	0	0	0	9440	1145	40	1	432	1	MC3R	20	54824329	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	10988039	54824329	8201191	63	1810											
ITGB2	3689	broad.mit.edu	37	chr21	46320234	46320234	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctggggtggggacttaCgaattcgttgctcctcttgt	4	14	14	9	2	1	0	0	0	1	0	3	2	2	1	2	4	3	2	2	4	2	4			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr21:46320234C>T	uc002zgd.2	-	6	941	c.897_splice	c.e6+1	p.F299_splice	ITGB2_uc002zgf.3_Splice_Site_p.F299_splice|ITGB2_uc011afl.1_Splice_Site_p.F221_splice|ITGB2_uc010gpw.2_Splice_Site_p.F242_splice|ITGB2_uc002zgg.2_Splice_Site_p.F299_splice	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	299	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.?(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGGGGACTTACGAATTCGTTG	0.632													T	46320234	C	T	46320234	5	4	28	1	0	0	0	0	0	0	1	0	7952	550	19	1	1451	1	ITGB2	21	46320234	Splice_Site	SNP	C	TCGA-06-0158-01A-01D-1491-08		46320234	1809661	64	1811											
SGSM1	129049	broad.mit.edu	37	chr22	25315903	25315903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctggtggaagtctacCgtgacatcattttggagaac	9	12	12	8	1	3	2	1	1	2	1	3	4	3	3	1	4	2	1	1	4	3	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:25315903C>T	uc003abg.2	+	24	3458	c.3301C>T	c.(3301-3303)Cgt>Tgt	p.R1101C	SGSM1_uc010guu.1_Missense_Mutation_p.R1046C|SGSM1_uc003abh.2_Missense_Mutation_p.R1040C|SGSM1_uc003abj.2_Missense_Mutation_p.R985C|SGSM1_uc003abi.1_Missense_Mutation_p.R1021C	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN	Homo sapiens small G protein signaling modulator 1 (SGSM1), transcript variant 1, mRNA.	1101						Golgi apparatus	Rab GTPase activator activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGAAGTCTACCGTGACATCAT	0.507													T	25315903	C	T	25315903	3	4	28	1	0	0	0	0	1	0	0	0	14315	652	23	1	3399	1	SGSM1	22	25315903	Missense_Mutation	SNP	C	TCGA-06-0158-01A-01D-1491-08		25315903	25988663	65	1812											
THOC5	8563	broad.mit.edu	37	chr22	29913061	29913061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtagtagagattggtgtcCccagccagtcccgcatccac	9	9	10	13	1	0	1	0	0	0	1	3	2	3	1	5	1	1	3	5	1	2	3			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chr22:29913061C>T	uc003afr.3	-	17	1973	c.1638G>A	c.(1636-1638)ggG>ggA	p.G546G	THOC5_uc003afq.3_Silent_p.G207G|THOC5_uc003afs.3_Silent_p.G546G|THOC5_uc003aft.3_Silent_p.G546G|THOC5_uc003afu.3_Silent_p.G546G	NM_001002878	NP_003669	Q13769	THOC5_HUMAN	Homo sapiens THO complex 5 (THOC5), transcript variant 1, mRNA.	546					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GATTGGTGTCCCCAGCCAGTC	0.527													T	29913061	C	T	29913061	2	4	28	1	0	0	0	0	0	0	0	1	15968	610	22	2		2	THOC5	22	29913061	Silent	SNP	C	TCGA-06-0158-01A-01D-1491-08	4597158	29913061	21391505	66	1813											
FAM46D	169966	broad.mit.edu	37	chrX	79699116	79699116	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtactttgcagctgaggcaAggtaccctatttatgtaata	11	13	9	8	1	0	1	0	1	0	0	0	1	0	1	1	2	4	6	1	2	7	8			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:79699116A>T	uc022bzm.1	+	0	1078	c.1078A>T	c.(1078-1080)Agg>Tgg	p.R360W	FAM46D_uc004edl.1_Missense_Mutation_p.R360W|FAM46D_uc004edm.2_Missense_Mutation_p.R360W	NM_152630	NP_689843	Q8NEK8	FA46D_HUMAN	Homo sapiens family with sequence similarity 46, member D (FAM46D), transcript variant 2, mRNA.	360										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AGCTGAGGCAAGGTACCCTAT	0.428													T	79699116	A	T	79699116	3	4	28	1	0	0	0	0	1	0	0	0	5619	63	3	5	1080	5	FAM46D	23	79699116	Missense_Mutation	SNP	A	TCGA-06-0158-01A-01D-1491-08		79699116	75571444	67	1814											
SPRY3	10251	broad.mit.edu	37	chrX	155004303	155004303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggctatgatagcctccggcGaccaggctgccgctgcaaga	8	6	14	13	3	0	2	0	1	0	1	1	3	1	2	4	3	3	4	4	3	3	2			TCGA-06-0158-01A-01D-1491-08	TCGA-06-0158-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14580533-4a0c-47ca-bb51-c233700de35c	afd6f8db-e121-4613-ab8d-154b04e013bf	g.chrX:155004303G>A	uc022cio.1	+	0	770	c.770G>A	c.(769-771)cGa>cAa	p.R257Q	SPRY3_uc004fnq.1_Missense_Mutation_p.R257Q	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	257	Cys-rich.|SPR.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCCTCCGGCGACCAGGCTGC	0.582													A	155004303	G	A	155004303	3	1	28	1	0	0	0	0	1	0	0	0	15203	1058	37	1	772	1	SPRY3	23	155004303	Missense_Mutation	SNP	G	TCGA-06-0158-01A-01D-1491-08	75305187	155004303	266257	68	1815											
DVL3	1857	broad.mit.edu	37	chr3	183884692	183884692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcaccttccctgcatacgGcatgagcccctccctgagca	7	7	9	18	2	0	2	0	2	0	0	2	2	2	2	5	2	4	4	5	2	1	2			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr3:183884692G>A	uc003fms.3	+	10	1267	c.1127G>A	c.(1126-1128)gGc>gAc	p.G376D	DVL3_uc011bqw.2_Missense_Mutation_p.G359D|DVL3_uc003fmt.3_Missense_Mutation_p.G47D|DVL3_uc003fmu.3_Missense_Mutation_p.G208D	NM_004423	NP_004414	Q92997	DVL3_HUMAN	Homo sapiens dishevelled, dsh homolog 3 (Drosophila) (DVL3), mRNA.	376					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CCTGCATACGGCATGAGCCCC	0.647													A	183884692	G	A	183884692	3	1	29	1	0	0	0	0	1	0	0	0	4876	1203	42	2	1169	2	DVL3	3	183884692	Missense_Mutation	SNP	G	TCGA-06-0165-01A-01D-1491-08		183884692	14137738	1	1816											
FAT4	79633	broad.mit.edu	37	chr4	126372195	126372195	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttgatttttggtaatagtCgaaagaagggtttccagatc	12	15	10	4	1	0	3	0	1	0	2	3	4	1	3	1	2	0	2	1	2	4	6			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:126372195C>T	uc003ifj.4	+	8	10024	c.10024C>T	c.(10024-10026)Cga>Tga	p.R3342*	FAT4_uc011cgp.2_Nonsense_Mutation_p.R1640*|FAT4_uc003ifi.1_Nonsense_Mutation_p.R820*	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3342	Cadherin 32.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R3342Q(1)		NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGGTAATAGTCGAAAGAAGGG	0.408													T	126372195	C	T	126372195	4	4	29	1	0	0	0	0	0	1	0	0	5741	876	31	1	10058	1	FAT4	4	126372195	Nonsense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		126372195	64782081	2	1817											
CCDC110	256309	broad.mit.edu	37	chr4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaaatctgtaatatttttgCcagtgatgggaatttcttta	11	19	7	4	0	2	1	0	1	2	0	2	2	2	2	1	1	1	1	1	1	6	8			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr4:186380647C>T	uc003ixu.4	-	5	1170	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_uc003ixv.4_Missense_Mutation_p.G328D|CCDC110_uc011ckt.1_Missense_Mutation_p.G365D	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	365						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323													T	186380647	C	T	186380647	3	4	29	1	0	0	0	0	1	0	0	0	2773	739	26	2	1415	2	CCDC110	4	186380647	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08	60008452	186380647	4773629	3	1818											
POM121C	100101267	broad.mit.edu	37	chr7	75051383	75051383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtaagggctggcttggCggcccccggtggctgcccct	2	7	19	13	2	0	0	0	0	0	0	0	0	0	0	4	8	1	4	4	8	1	2			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr7:75051383C>T	uc003udk.4	-	12	3037	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	960	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GCTGGCTTGGCGGCCCCCGGT	0.662													T	75051383	C	T	75051383	3	4	29	1	0	0	0	0	1	0	0	0	12317	768	27	1	823	1	POM121C	7	75051383	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		75051383	84087280	4	1819											
PAX5	5079	broad.mit.edu	37	chr9	37020696	37020696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagatgtcgcagggcCtgacaccttgatgagcaagt	9	8	14	10	1	0	4	0	3	0	1	1	5	0	4	3	2	1	2	3	2	1	1			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr9:37020696C>A	uc003zzo.1	-	1	597	c.149G>T	c.(148-150)aGg>aTg	p.R50M	PAX5_uc011lqc.1_Missense_Mutation_p.R50M|PAX5_uc010mlr.1_Missense_Mutation_p.R50M|PAX5_uc011lpw.1_Missense_Mutation_p.R50M|PAX5_uc011lpx.1_Missense_Mutation_p.R50M|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R50M|PAX5_uc011lpz.1_Missense_Mutation_p.R50M|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R50M|PAX5_uc010mlp.1_Missense_Mutation_p.R50M|PAX5_uc011lqd.1_Missense_Mutation_p.R49M|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	50	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GTCGCAGGGCCTGACACCTTG	0.542			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								A	37020696	C	A	37020696	3	1	29	1	0	0	0	0	1	0	0	0	11558	681	24	4	1062	4	PAX5	9	37020696	Missense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		37020696	104192735	5	1820											
CEP152	22995	broad.mit.edu	37	chr15	49054838	49054838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcttagactgccactccTtttcaagctgttgaatgagt	9	13	8	11	0	1	3	1	2	0	1	2	3	2	3	3	0	3	3	3	0	3	4			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr15:49054838T>C	uc001zwz.3	-	17	2505	c.2312A>G	c.(2311-2313)aAg>aGg	p.K771R	CEP152_uc001zwy.3_Missense_Mutation_p.K771R|CEP152_uc001zxa.2_Missense_Mutation_p.K678R	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	771					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTGCCACTCCTTTTCAAGCTG	0.338													C	49054838	T	C	49054838	3	2	29	1	0	0	0	0	1	0	0	0	3278	1609	56	3	2688	3	CEP152	15	49054838	Missense_Mutation	SNP	T	TCGA-06-0165-01A-01D-1491-08		49054838	53476554	6	1821											
ABCC1	4363	broad.mit.edu	37	chr16	16101808	16101808	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatctctcccgacatgacCgaggctacattcagatgaca	11	10	7	13	2	3	3	1	2	2	1	5	5	4	3	2	1	1	1	2	1	2	3			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr16:16101808C>T	uc010bvi.3	+	1	359	c.184C>T	c.(184-186)Cga>Tga	p.R62*	ABCC1_uc010bvj.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvk.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvl.3_Nonsense_Mutation_p.R62*|ABCC1_uc010bvm.3_Nonsense_Mutation_p.R62*|ABCC1_uc002del.4_5'Flank	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	62					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CCGACATGACCGAGGCTACAT	0.537													T	16101808	C	T	16101808	4	4	29	1	0	0	0	0	0	1	0	0	49	644	23	1	190	1	ABCC1	16	16101808	Nonsense_Mutation	SNP	C	TCGA-06-0165-01A-01D-1491-08		16101808	74252945	7	1822											
B4GALT6	9331	broad.mit.edu	37	chr18	29225320	29225320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaatttacctcacctTccatctgggtttacagtctt	11	14	6	10	0	3	1	1	0	2	1	4	2	4	1	3	1	2	1	3	1	5	6			TCGA-06-0165-01A-01D-1491-08	TCGA-06-0165-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1728988e-0877-4194-92c5-92c1ee6c5f5b	e27b2def-4e82-4c29-bbf1-51d4fffda600	g.chr18:29225320T>C	uc002kwz.4	-	3	766	c.469A>G	c.(469-471)Aag>Gag	p.K157E	B4GALT6_uc010dma.3_Missense_Mutation_p.K118E|B4GALT6_uc010dmb.3_Missense_Mutation_p.K157E	NM_004775	NP_004766	Q9UBX8	B4GT6_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6 (B4GALT6), mRNA.	157					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding	p.K157E(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			TACCTCACCTTCCATCTGGGT	0.378													C	29225320	T	C	29225320	3	2	29	1	0	0	0	0	1	0	0	0	1280	1792	62	3	703	3	B4GALT6	18	29225320	Missense_Mutation	SNP	T	TCGA-06-0165-01A-01D-1491-08		29225320	48851928	8	1823											
TNFRSF25	8718	broad.mit.edu	37	chr1	6522120	6522120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcgcctcctgggtctCggggtagccaggggtccagc	5	6	17	13	2	1	1	0	0	1	1	4	1	3	1	4	5	3	2	4	5	1	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:6522120C>A	uc001anh.3	-	8	974	c.886G>T	c.(886-888)Gag>Tag	p.E296*	TNFRSF25_uc001ana.3_Nonsense_Mutation_p.E104*|TNFRSF25_uc001anb.3_Non-coding_Transcript|TNFRSF25_uc001anc.3_Non-coding_Transcript|TNFRSF25_uc001and.3_Nonsense_Mutation_p.E60*|TNFRSF25_uc009vlz.3_Non-coding_Transcript|TNFRSF25_uc001ane.3_Nonsense_Mutation_p.E287*|TNFRSF25_uc001anf.3_Nonsense_Mutation_p.E250*|TNFRSF25_uc001ang.3_Nonsense_Mutation_p.E242*	NM_148965	NP_683866	Q93038	TNR25_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 25 (TNFRSF25), transcript variant 1, mRNA.	287					apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGGTCTCGGGGTAGCCA	0.627													A	6522120	C	A	6522120	4	1	30	1	0	0	0	0	0	1	0	0	16396	893	31	4	402	4	TNFRSF25	1	6522120	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		6522120	242728501	1	1824											
LPHN2	23266	broad.mit.edu	37	chr1	82456163	82456163	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagctactcgctgcacaaGggtgactataatgacagcgt	13	8	10	10	2	0	2	0	2	0	0	1	2	0	2	0	1	5	3	0	1	5	3			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:82456163G>C	uc001dit.4	+	20	3727	c.3546G>C	c.(3544-3546)aaG>aaC	p.K1182N	LPHN2_uc001dis.3_Missense_Mutation_p.K162N|LPHN2_uc001diu.3_Missense_Mutation_p.K1182N|LPHN2_uc001div.3_3'UTR|LPHN2_uc009wcd.3_3'UTR|LPHN2_uc001diw.3_Missense_Mutation_p.K809N	NM_012302	NP_036434	O95490	LPHN2_HUMAN	Homo sapiens latrophilin 2 (LPHN2), mRNA.	1238					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CGCTGCACAAGGGTGACTATA	0.413													C	82456163	G	C	82456163	3	2	30	1	0	0	0	0	1	0	0	0	8986	991	35	4	3620	4	LPHN2	1	82456163	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	75934043	82456163	166794458	2	1825											
DCAF8	5824	broad.mit.edu	37	chr1	160254853	160254853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgggctcttactttccagaAgctcctccaattccctgtcc	7	13	6	15	0	1	1	0	0	1	1	6	1	6	1	5	1	2	2	5	1	3	3			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:160254853A>G	uc001fvs.2	-	0	89	c.62T>C	c.(61-63)cTt>cCt	p.L21P	DCAF8_uc010pjc.1_5'UTR|DCAF8_uc021pbq.1_Missense_Mutation_p.L21P|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_5'UTR	NM_002857	NP_002848	Q5TAQ9	DCAF8_HUMAN	Homo sapiens peroxisomal biogenesis factor 19 (PEX19), transcript variant 1, mRNA.	0						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						ACTTTCCAGAAGCTCCTCCAA	0.597													G	160254853	A	G	160254853	3	3	30	1	0	0	0	0	1	0	0	0	4310	72	3	3		3	DCAF8	1	160254853	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	77798690	160254853	88995768	3	1826											
ARID4B	51742	broad.mit.edu	37	chr1	235345301	235345301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagttctacactgggtgaaCaactctcctcttcagccaca	10	11	6	14	0	4	1	1	1	3	0	5	1	4	1	2	1	4	1	2	1	4	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:235345301C>T	uc021pks.1	-	19	3310	c.2933G>A	c.(2932-2934)tGt>tAt	p.C978Y	ARID4B_uc001hwq.3_Missense_Mutation_p.C978Y|ARID4B_uc001hwr.3_Missense_Mutation_p.C892Y|ARID4B_uc001hws.4_Missense_Mutation_p.C892Y|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.C659Y	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	978					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ACTGGGTGAACAACTCTCCTC	0.493													T	235345301	C	T	235345301	3	4	30	1	0	0	0	0	1	0	0	0	923	478	17	2	1025	2	ARID4B	1	235345301	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	75090448	235345301	13905320	4	1827											
OR6F1	343169	broad.mit.edu	37	chr1	247875180	247875180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctcttacttccttattaCgaagcgtatagatgaagggg	10	14	9	8	2	2	2	0	1	2	1	4	3	3	2	1	2	3	1	1	2	7	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr1:247875180C>T	uc001idj.1	-	0	878	c.878G>A	c.(877-879)cGt>cAt	p.R293H		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R293L(2)|p.R293H(2)		breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			TTCCTTATTACGAAGCGTATA	0.438													T	247875180	C	T	247875180	3	4	30	1	0	0	0	0	1	0	0	0	11277	536	19	1	52	1	OR6F1	1	247875180	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12529879	247875180	1375441	5	1828											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44023908	44023908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagacacttcgatttgttGcacattattatggagcatca	12	13	8	8	1	1	1	1	0	0	1	2	3	1	2	0	1	2	4	0	1	3	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:44023908G>A	uc002rtl.3	+	7	731	c.631G>A	c.(631-633)Gca>Aca	p.A211T	DYNC2LI1_uc002rtk.3_Missense_Mutation_p.A210T|DYNC2LI1_uc010ynz.2_Missense_Mutation_p.A84T|DYNC2LI1_uc021vgq.1_Missense_Mutation_p.A84T	NM_001193464	NP_001180393	Q8TCX1	DC2L1_HUMAN	Homo sapiens dynein, cytoplasmic 2, light intermediate chain 1 (DYNC2LI1), transcript variant 4, mRNA.	210						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCGATTTGTTGCACATTATTA	0.343													A	44023908	G	A	44023908	3	1	30	1	0	0	0	0	1	0	0	0	4886	1319	46	2	757	2	DYNC2LI1	2	44023908	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		44023908	199175465	6	1829											
ZRANB3	84083	broad.mit.edu	37	chr2	135960424	135960424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtgacagactgtgcagAgagtctgcaggttgtccagg	8	11	14	8	0	1	3	0	1	1	2	2	4	2	3	1	2	2	3	1	2	0	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr2:135960424A>G	uc002tum.3	-	19	3236	c.3119T>C	c.(3118-3120)cTc>cCc	p.L1040P	ZRANB3_uc002tuk.3_Missense_Mutation_p.L583P|ZRANB3_uc002tul.3_Missense_Mutation_p.L1038P	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1040						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GACTGTGCAGAGAGTCTGCAG	0.478													G	135960424	A	G	135960424	3	3	30	1	0	0	0	0	1	0	0	0	18323	304	11	3	128	3	ZRANB3	2	135960424	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	91936516	135960424	107238949	7	1830											
NUP210	23225	broad.mit.edu	37	chr3	13379344	13379344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggtcccctcacctgggtgCccgtcctcatccgcatgatg	5	9	11	16	2	2	1	2	1	0	0	5	2	5	1	6	2	1	1	6	2	0	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:13379344C>T	uc003bxv.1	-	25	3628	c.3545G>A	c.(3544-3546)gGc>gAc	p.G1182D		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	1182					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACCTGGGTGCCCGTCCTCAT	0.627													T	13379344	C	T	13379344	3	4	30	1	0	0	0	0	1	0	0	0	10836	739	26	2	2178	2	NUP210	3	13379344	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		13379344	184643086	8	1831											
XCR1	2829	broad.mit.edu	37	chr3	46063343	46063343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtataggacagtggtggCgagggtagcaaagacccagg	12	5	17	7	1	0	1	0	0	0	1	0	3	0	2	1	5	1	4	1	5	4	3	rs140218706		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:46063343C>T	uc003cpe.3	-	2	321	c.97G>A	c.(97-99)Gcc>Acc	p.A33T	AX747832_uc003cpd.1_5'Flank|XCR1_uc003cpf.3_Missense_Mutation_p.A33T|XCR1_uc021wwx.1_Missense_Mutation_p.A33T	NM_005283	NP_005274	P46094	XCR1_HUMAN	Homo sapiens chemokine (C motif) receptor 1 (XCR1), transcript variant 1, mRNA.	33					chemotaxis|G-protein signaling, coupled to cyclic nucleotide second messenger|inflammatory response	integral to plasma membrane	chemokine receptor activity			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		ACAGTGGTGGCGAGGGTAGCA	0.567													T	46063343	C	T	46063343	3	4	30	1	0	0	0	0	1	0	0	0	17527	768	27	1	908	1	XCR1	3	46063343	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	32683999	46063343	151959087	9	1832											
CP	1356	broad.mit.edu	37	chr3	148895735	148895735	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacgtgcattgtgaggccTtgtaggtttccaaacattct	8	13	9	11	1	1	1	0	1	1	0	2	1	2	1	3	2	2	3	3	2	2	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:148895735T>G	uc003ewy.4	-	16	3163	c.2910A>C	c.(2908-2910)caA>caC	p.Q970H	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003eww.4_Missense_Mutation_p.Q122H|CP_uc003ewx.4_Missense_Mutation_p.Q751H|CP_uc003ewz.3_Missense_Mutation_p.Q970H	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	970	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGTGAGGCCTTGTAGGTTTC	0.378													G	148895735	T	G	148895735	3	3	30	1	0	0	0	0	1	0	0	0	3818	1606	56	5	299	5	CP	3	148895735	Missense_Mutation	SNP	T	TCGA-06-0166-01A-01D-1491-08	102832392	148895735	49126695	10	1833											
MECOM	2122	broad.mit.edu	37	chr3	169099085	169099085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatattcctagtcctgcccCaggcatatttgactctcgaa	9	12	6	14	1	1	1	0	1	1	0	4	2	3	1	5	1	1	1	5	1	4	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:169099085C>A	uc011bpj.1	-	1	668	c.265G>T	c.(265-267)Ggg>Tgg	p.G89W	MECOM_uc003ffl.2_Missense_Mutation_p.G61W|MECOM_uc011bpk.1_Intron|MECOM_uc010hwn.2_Missense_Mutation_p.G89W|MECOM_uc011bpl.1_Missense_Mutation_p.G89W	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	89							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTCCTGCCCCAGGCATATTT	0.473													A	169099085	C	A	169099085	3	1	30	1	0	0	0	0	1	0	0	0	9497	594	21	4	3528	4	MECOM	3	169099085	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	20203350	169099085	28923345	11	1834											
PIK3CA	5290	broad.mit.edu	37	chr3	178916641	178916661	+	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	CTGTGGGGCATCCACTTGATG	-																															cacgaccatcatcaggtgaaCtgtggggcatccacttgatg																										TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr3:178916641_178916661delCTGTGGGGCATCCACTTGATG	uc003fjk.3	+	1	185_205	c.28_48delCTGTGGGGCATCCACTTGATG	c.(28-48)ctgtggggcatccacttgatgdel	p.LWGIHLM10del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	10					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G12D(4)|p.W11L(3)|p.I13_R19del(2)|p.E9_R19del(2)|p.L15_V22>PM(2)|p.L10_M16del(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCAGGTGAACTGTGGGGCATCCACTTGATGCCCCCAAGAA	0.394		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916661	CTGTGGGGCATCCACTTGATG	-	178916641	7	5	30	1	0	1	0	1	0	0	0	0	11990	564	20	0	30	0	PIK3CA	3	178916641	In_Frame_Del	DEL	CTGTGGGGCATCCACTTGATG	TCGA-06-0166-01A-01D-1491-08	9817556	178916641	19105789	12	1835											
LIMCH1	22998	broad.mit.edu	37	chr4	41652554	41652554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagtgcacgggtctccactgGagctgaaacaagacaacggt	12	6	13	10	2	1	2	0	1	1	1	2	4	1	3	1	3	4	2	1	3	3	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:41652554G>A	uc003gvz.4	+	17	3382	c.2965G>A	c.(2965-2967)Gag>Aag	p.E989K	LIMCH1_uc003gwe.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvu.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvv.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvw.4_Missense_Mutation_p.E604K|LIMCH1_uc003gvx.4_Missense_Mutation_p.E592K|LIMCH1_uc003gvy.4_Missense_Mutation_p.E433K|LIMCH1_uc003gwa.4_Missense_Mutation_p.E445K|LIMCH1_uc011byu.2_Missense_Mutation_p.E438K|LIMCH1_uc003gwc.4_Missense_Mutation_p.E450K|LIMCH1_uc003gwd.4_Missense_Mutation_p.E438K|LIMCH1_uc011byv.2_Missense_Mutation_p.E355K	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	604					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GTCTCCACTGGAGCTGAAACA	0.527													A	41652554	G	A	41652554	3	1	30	1	0	0	0	0	1	0	0	0	8857	1175	41	2	1888	2	LIMCH1	4	41652554	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		41652554	149501722	13	1836											
NPY2R	4887	broad.mit.edu	37	chr4	156135822	156135822	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctacactcgcatttggaGtaaattgaagaaccatgtca	13	12	7	9	1	1	2	1	1	0	1	3	3	2	3	2	1	2	2	2	1	5	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr4:156135822G>C	uc003ioq.3	+	1	1220	c.731G>C	c.(730-732)aGt>aCt	p.S244T	NPY2R_uc003ior.3_Missense_Mutation_p.S244T|NPY2R_uc021xtm.1_Missense_Mutation_p.S244T	NM_000910	NP_000901	P49146	NPY2R_HUMAN	Homo sapiens neuropeptide Y receptor Y2 (NPY2R), mRNA.	244					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CGCATTTGGAGTAAATTGAAG	0.433													C	156135822	G	C	156135822	3	2	30	1	0	0	0	0	1	0	0	0	10685	1029	36	4	733	4	NPY2R	4	156135822	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	114483268	156135822	35018454	14	1837											
FTMT	94033	broad.mit.edu	37	chr5	121187974	121187974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacttctcccgggatgacGtggccttgaacaacttctcc	8	12	8	13	2	2	2	0	2	2	0	4	3	2	3	3	2	3	0	3	2	3	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:121187974G>A	uc003kss.3	+	0	325	c.316G>A	c.(316-318)Gtg>Atg	p.V106M		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	106	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCGGGATGACGTGGCCTTGAA	0.592													A	121187974	G	A	121187974	3	1	30	1	0	0	0	0	1	0	0	0	6137	1145	40	1	318	1	FTMT	5	121187974	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		121187974	59727286	15	1838											
FCHSD1	89848	broad.mit.edu	37	chr5	141029038	141029038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcggtcagacgcctggagtCgggtttggcccccagccacg	6	7	14	14	4	1	1	1	0	0	1	3	2	1	2	4	4	1	1	4	4	0	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr5:141029038C>T	uc003llk.3	-	4	350	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	FCHSD1_uc010jgg.3_5'Flank|FCHSD1_uc003llj.3_Non-coding_Transcript	NM_033449	NP_258260	Q86WN1	FCSD1_HUMAN	Homo sapiens FCH and double SH3 domains 1 (FCHSD1), mRNA.	100									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTGGAGTCGGGTTTGGCC	0.637													T	141029038	C	T	141029038	3	4	30	1	0	0	0	0	1	0	0	0	5838	884	31	1	1837	1	FCHSD1	5	141029038	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	19841064	141029038	39886222	16	1839											
PCLO	27445	broad.mit.edu	37	chr7	82595090	82595090	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaaatttaacttactgtTttttctttcccaggttccac	10	18	4	9	0	1	0	0	0	1	0	3	0	3	0	2	1	2	3	2	1	4	9			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:82595090T>A	uc003uhx.2	-	3	4303	c.4014A>T	c.(4012-4014)aaA>aaT	p.K1338N	PCLO_uc003uhv.2_Missense_Mutation_p.K1338N	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACTTACTGTTTTTTCTTTCC	0.338													A	82595090	T	A	82595090	3	1	30	1	0	0	0	0	1	0	0	0	11659	1838	64	5	11519	5	PCLO	7	82595090	Missense_Mutation	SNP	T	TCGA-06-0166-01A-01D-1491-08		82595090	76543573	17	1840											
DYNC1I1	1780	broad.mit.edu	37	chr7	95457400	95457400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacacagacccctcagtgCtccagctgcagtcagactca	10	6	10	15	0	3	2	3	0	0	2	4	3	4	3	3	1	3	3	3	1	0	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr7:95457400C>T	uc003uoc.4	+	4	674	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F	DYNC1I1_uc003uod.4_Missense_Mutation_p.L116F|DYNC1I1_uc003uob.3_Intron|DYNC1I1_uc003uoe.4_Intron|DYNC1I1_uc010lfl.3_Missense_Mutation_p.L122F	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	133					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CCCCTCAGTGCTCCAGCTGCA	0.443													T	95457400	C	T	95457400	3	4	30	1	0	0	0	0	1	0	0	0	4881	797	28	2	411	2	DYNC1I1	7	95457400	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12862310	95457400	63681263	18	1841											
AP3M2	10947	broad.mit.edu	37	chr8	42024775	42024776	+	Frame_Shift_Ins	INS	-	-	GT																															taacggtgggacccaagcagINSacgatggggaagaccattga																										TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:42024775_42024776insGT	uc003xop.3	+	7	1188_1189	c.897_898insGT	c.(895-900)cagacgfs	p.Q299fs	AP3M2_uc003xoo.3_Frame_Shift_Ins_p.Q299fs|AP3M2_uc010lxe.3_Intron	NM_001134296	NP_006794	P53677	AP3M2_HUMAN	Homo sapiens adaptor-related protein complex 3, mu 2 subunit (AP3M2), transcript variant 1, mRNA.	299	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus				endometrium(3)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)|stomach(1)	17	all_cancers(6;8.14e-25)|all_epithelial(6;2.41e-27)|all_lung(13;5.09e-13)|Lung NSC(13;8.38e-12)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0221)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Esophageal squamous(32;0.0954)|Renal(179;0.0983)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|Colorectal(10;0.00165)|OV - Ovarian serous cystadenocarcinoma(14;0.00346)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)			GACCCAAGCAGACGATGGGGAA	0.515													GT	42024776	-	GT	42024775	7	5	30	1	0	1	1	0	0	0	0	0	750	933	33	0	919	0	AP3M2	8	42024775	Frame_Shift_Ins	INS	-	TCGA-06-0166-01A-01D-1491-08		42024775	104339247	19	1842											
ST18	9705	broad.mit.edu	37	chr8	53073986	53073986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtttgtatgagagggcGtttaccgaaaacttgggcat	10	12	12	7	2	0	1	0	1	0	1	0	3	0	1	1	2	2	4	1	2	4	5	rs2303460	byFrequency	TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:53073986G>A	uc003xqz.2	-	8	1699	c.1543C>T	c.(1543-1545)Cgc>Tgc	p.R515C	ST18_uc011ldq.1_Missense_Mutation_p.R162C|ST18_uc011ldr.1_Missense_Mutation_p.R480C|ST18_uc011lds.1_Missense_Mutation_p.R420C|ST18_uc003xra.2_Missense_Mutation_p.R515C|ST18_uc003xrb.2_Missense_Mutation_p.R515C	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	515			R -> C (in dbSNP:rs2303460).			nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				ATGAGAGGGCGTTTACCGAAA	0.433													A	53073986	G	A	53073986	3	1	30	1	0	0	0	0	1	0	0	0	15308	1145	40	1	1652	1	ST18	8	53073986	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	11049211	53073986	93290036	20	1843											
DCAF13	25879	broad.mit.edu	37	chr8	104427337	104427338	+	Frame_Shift_Ins	INS	-	-	G																															gccggagactctagtactgaINSgggggcaagaacggggcaca																										TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:104427337_104427338insG	uc003yln.3	+	0	396_397	c.119_120insG	c.(118-120)gagfs	p.E40fs	SLC25A32_uc003yll.3_5'UTR|SLC25A32_uc011lhr.2_5'UTR|DCAF13_uc003ylm.1_5'UTR	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	0					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						TCTAGTACTGAGGGGGCAAGAA	0.663													G	104427338	-	G	104427337	7	5	30	1	0	1	1	0	0	0	0	0	4300	304	11	0	121	0	DCAF13	8	104427337	Frame_Shift_Ins	INS	-	TCGA-06-0166-01A-01D-1491-08	51353351	104427337	41936685	21	1844											
ASAP1	50807	broad.mit.edu	37	chr8	131124496	131124496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctggcagtgccagcttgtCctggggggagatgctggagg	5	9	18	9	0	0	1	0	0	0	1	2	3	2	2	3	6	3	3	3	6	0	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr8:131124496C>G	uc003yta.2	-	23	2473	c.2245G>C	c.(2245-2247)Gac>Cac	p.D749H	ASAP1_uc003ysz.2_Missense_Mutation_p.D560H|ASAP1_uc011liw.2_Missense_Mutation_p.D742H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	749					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GCCAGCTTGTCCTGGGGGGAG	0.542													G	131124496	C	G	131124496	3	3	30	1	0	0	0	0	1	0	0	0	1015	855	30	4	1172	4	ASAP1	8	131124496	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	26697159	131124496	15239526	22	1845											
FAM75C1	441452	broad.mit.edu	37	chr9	90537612	90537612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtgacctcatgtcagcCagaaggagtaacatggggca	12	8	12	9	0	2	2	2	1	0	1	2	3	2	3	2	3	2	2	2	3	3	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:90537612C>T	uc010mqi.3	+	3	2819	c.2790C>T	c.(2788-2790)gcC>gcT	p.A930A	FAM75C1_uc004apq.4_Silent_p.A913A|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		TCATGTCAGCCAGAAGGAGTA	0.547													T	90537612	C	T	90537612	2	4	30	1	0	0	0	0	0	0	0	1	5673	581	21	2		2	FAM75C1	9	90537612	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08		90537612	50675819	23	1846											
ZNF618	114991	broad.mit.edu	37	chr9	116750662	116750662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagagccagtgccagccGaggcctcgctgagtgccgag	7	4	15	15	3	0	2	0	1	0	1	1	4	0	2	6	1	4	1	6	1	0	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:116750662G>A	uc004bid.3	+	2	238	c.139G>A	c.(139-141)Gag>Aag	p.E47K	ZNF618_uc004bib.1_Missense_Mutation_p.E47K|ZNF618_uc004bic.3_Missense_Mutation_p.E47K|ZNF618_uc011lxi.2_Missense_Mutation_p.E47K|ZNF618_uc011lxj.2_Missense_Mutation_p.E47K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGTGCCAGCCGAGGCCTCGCT	0.602													A	116750662	G	A	116750662	3	1	30	1	0	0	0	0	1	0	0	0	18143	1059	37	1	149	1	ZNF618	9	116750662	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	26213050	116750662	24462769	24	1847											
OR5C1	392391	broad.mit.edu	37	chr9	125551633	125551633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctatacaacagctatgtCgcagcgtctatgcctggcct	8	12	8	13	2	2	0	0	0	2	0	4	0	2	0	2	1	5	2	2	1	5	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr9:125551633C>T	uc011lzd.2	+	0	422	c.422C>T	c.(421-423)tCg>tTg	p.S141L		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACAGCTATGTCGCAGCGTCTA	0.572													T	125551633	C	T	125551633	3	4	30	1	0	0	0	0	1	0	0	0	11229	893	31	1	424	1	OR5C1	9	125551633	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	8800971	125551633	15661798	25	1848											
C10orf71	118461	broad.mit.edu	37	chr10	50531485	50531485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacagctggaaccgtcccaGaaagcaaagctcccaagcac	15	3	8	15	1	0	1	0	0	0	1	2	2	2	2	3	1	5	4	3	1	4	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:50531485G>A	uc021pqb.1	+	0	895	c.895G>A	c.(895-897)Gaa>Aaa	p.E299K	C10orf71_uc021pqa.1_Missense_Mutation_p.E298K|C10orf71_uc021pqc.1_Missense_Mutation_p.E299K	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	299										endometrium(1)	1						AACCGTCCCAGAAAGCAAAGC	0.542													A	50531485	G	A	50531485	3	1	30	1	0	0	0	0	1	0	0	0	1625	943	33	2	897	2	C10orf71	10	50531485	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		50531485	85003262	26	1849											
PTEN	5728	broad.mit.edu	37	chr10	89711882	89711882	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtccaccagggagtaaCtattcccagtcagaggcgct	9	10	10	12	1	2	1	1	0	1	1	4	2	4	2	3	2	1	2	3	2	2	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:89711882C>G	uc001kfb.3	+	5	1532	c.500C>G	c.(499-501)aCt>aGt	p.T167S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	167	Phosphatase tensin-type.		T -> P (in breast cancer; severely reduced protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.V166fs*17(6)|p.T167A(5)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.T167I(2)|p.V166fs*10(2)|p.Y27fs*1(2)|p.T167S(2)|p.Y27_N212>Y(2)|p.G165_*404del(1)|p.K163_V166>NKGE(1)|p.V166I(1)|p.V166L(1)|p.G165_K342del(1)|p.T167P(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGGGAGTAACTATTCCCAGT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89711882	C	G	89711882	3	3	30	1	0	0	0	0	1	0	0	0	12823	565	20	4	522	4	PTEN	10	89711882	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	39180397	89711882	45822865	27	1850											
KNDC1	85442	broad.mit.edu	37	chr10	135012314	135012314	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccaccccaggccccagcaAaccagccagagggggcctca	10	2	10	19	0	1	1	1	0	0	1	2	1	2	1	8	3	3	1	8	3	1	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr10:135012314A>C	uc001llz.1	+	13	2303	c.2302A>C	c.(2302-2304)Aac>Cac	p.N768H	KNDC1_uc001lma.1_Missense_Mutation_p.N703H|KNDC1_uc001lmb.1_Missense_Mutation_p.N180H	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	768	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		GGCCCCAGCAAACCAGCCAGA	0.731													C	135012314	A	C	135012314	3	2	30	1	0	0	0	0	1	0	0	0	8484	14	1	5	2356	5	KNDC1	10	135012314	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08	45300432	135012314	522433	28	1851											
MYOD1	4654	broad.mit.edu	37	chr11	17741852	17741852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgccgcgccccctggcgccGcagccgccttctatgcgccg	3	5	12	21	8	1	0	0	0	1	0	1	0	1	0	7	1	2	1	7	1	1	2	rs143600911		TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr11:17741852G>T	uc001mni.3	+	0	743	c.523G>T	c.(523-525)Gca>Tca	p.A175S		NM_002478	NP_002469	P15172	MYOD1_HUMAN	Homo sapiens myogenic differentiation 1 (MYOD1), mRNA.	175					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|skeletal muscle tissue development	nuclear chromatin|transcription factor complex	E-box binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	17						CCCTGGCGCCGCAGCCGCCTT	0.741													T	17741852	G	T	17741852	3	4	30	1	0	0	0	0	1	0	0	0	10164	1087	38	4	525	4	MYOD1	11	17741852	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		17741852	117264664	29	1852											
TMEM132D	121256	broad.mit.edu	37	chr12	129558863	129558863	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatcccttcctgctcctCgaagggaacctgtttgtgtc	6	13	8	14	1	1	0	1	0	0	0	6	2	4	1	4	1	2	2	4	1	2	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr12:129558863C>A	uc009zyl.1	-	8	3185	c.2857G>T	c.(2857-2859)Gag>Tag	p.E953*	TMEM132D_uc001uia.2_Nonsense_Mutation_p.E491*	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	953						integral to membrane		p.E953*(2)|p.F952L(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCCTGCTCCTCGAAGGGAACC	0.458													A	129558863	C	A	129558863	4	1	30	1	0	0	0	0	0	1	0	0	16147	893	31	4	446	4	TMEM132D	12	129558863	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		129558863	4293032	30	1853											
NALCN	259232	broad.mit.edu	37	chr13	101795440	101795440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatcttactttttggtcGatgtatttgttgtcctcaat	7	19	8	7	1	2	1	1	0	1	1	4	2	3	1	1	1	1	3	1	1	3	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr13:101795440G>A	uc001vox.1	-	16	2298	c.2109C>T	c.(2107-2109)atC>atT	p.I703I	NALCN_uc001voy.3_Silent_p.I418I	NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	703						integral to membrane	sodium channel activity|voltage-gated ion channel activity	p.I703I(4)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTTTTTGGTCGATGTATTTGT	0.468													A	101795440	G	A	101795440	2	1	30	1	0	0	0	0	0	0	0	1	10224	1048	37	1		1	NALCN	13	101795440	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08		101795440	13374438	31	1854											
CDKL1	8814	broad.mit.edu	37	chr14	50862534	50862534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgtttctacatttgaaaAcaactccataggatccttct	11	14	4	12	0	2	1	0	1	2	0	4	2	4	2	3	1	3	1	3	1	5	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:50862534A>G	uc010anu.2	-	4	623	c.623T>C	c.(622-624)gTt>gCt	p.V208A	CDKL1_uc001wxz.3_Missense_Mutation_p.V19A	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	18	Protein kinase.					cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACATTTGAAAACAACTCCATA	0.398													G	50862534	A	G	50862534	3	3	30	1	0	0	0	0	1	0	0	0	3183	43	2	3	1056	3	CDKL1	14	50862534	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08		50862534	56487006	32	1855											
KCNH5	27133	broad.mit.edu	37	chr14	63447847	63447847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attataaggaaccataatggCggtgtagaaggtaagaatta	17	10	11	3	1	0	2	0	0	0	2	0	3	0	3	1	4	1	2	1	4	9	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr14:63447847C>T	uc001xfx.3	-	5	736	c.685G>A	c.(685-687)Gcc>Acc	p.A229T	KCNH5_uc001xfy.3_Missense_Mutation_p.A229T|KCNH5_uc001xfz.1_Missense_Mutation_p.A171T|KCNH5_uc001xga.3_Missense_Mutation_p.A171T	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	229					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.A229T(2)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		ACCATAATGGCGGTGTAGAAG	0.383													T	63447847	C	T	63447847	3	4	30	1	0	0	0	0	1	0	0	0	8093	768	27	1	2339	1	KCNH5	14	63447847	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	12585313	63447847	43901693	33	1856											
HERC2	8924	broad.mit.edu	37	chr15	28460793	28460793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcagcgaggtggcagtgaAgggtgcgtgcccttccacga	7	7	16	11	3	0	1	0	1	0	0	1	3	1	1	2	3	4	2	2	3	1	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:28460793A>G	uc001zbj.3	-	38	6290	c.6184T>C	c.(6184-6186)Ttc>Ctc	p.F2062L		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	2062					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GTGGCAGTGAAGGGTGCGTGC	0.607													G	28460793	A	G	28460793	3	3	30	1	0	0	0	0	1	0	0	0	7113	72	3	3	8540	3	HERC2	15	28460793	Missense_Mutation	SNP	A	TCGA-06-0166-01A-01D-1491-08		28460793	74070599	34	1857											
FRMD5	84978	broad.mit.edu	37	chr15	44181021	44181021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacctctttctgacttaCgtataaatagaaagtctttc	12	15	4	10	1	4	2	1	1	3	1	5	2	4	2	1	0	1	1	1	0	6	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:44181021C>T	uc001ztl.3	-	8	955	c.778G>A	c.(778-780)Gta>Ata	p.V260I	FRMD5_uc001ztj.1_5'UTR|FRMD5_uc001ztk.1_Splice_Site_p.Y170_splice|FRMD5_uc001ztm.3_5'UTR|FRMD5_uc001ztn.3_Missense_Mutation_p.V26I	NM_032892	NP_116281	Q7Z6J6	FRMD5_HUMAN	Homo sapiens FERM domain containing 5 (FRMD5), transcript variant 2, mRNA.	260	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(109;2.29e-15)|all_epithelial(112;9.98e-13)|Lung NSC(122;4.89e-08)|all_lung(180;5.08e-07)|Melanoma(134;0.0275)		all cancers(107;8.63e-20)|GBM - Glioblastoma multiforme(94;3.63e-06)		TTCTGACTTACGTATAAATAG	0.498													T	44181021	C	T	44181021	3	4	30	1	0	0	0	0	1	0	0	0	6105	536	19	1	958	1	FRMD5	15	44181021	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	15720228	44181021	58350371	35	1858											
SLTM	79811	broad.mit.edu	37	chr15	59186379	59186379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcatttctttcttagagGgatcaccttttacctgaaag	9	17	6	9	0	5	2	2	1	3	1	5	3	5	3	2	1	1	0	2	1	3	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59186379G>A	uc002afp.3	-	10	1479	c.1391C>T	c.(1390-1392)cCc>cTc	p.P464L	SLTM_uc002afn.3_Missense_Mutation_p.P33L|SLTM_uc002afo.3_Missense_Mutation_p.P446L|SLTM_uc002afq.3_Missense_Mutation_p.P33L|SLTM_uc010bgd.3_Missense_Mutation_p.P33L	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	464					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTTCTTAGAGGGATCACCTTT	0.318													A	59186379	G	A	59186379	3	1	30	1	0	0	0	0	1	0	0	0	14848	1232	43	2	1757	2	SLTM	15	59186379	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	15005358	59186379	43345013	36	1859											
GCNT3	9245	broad.mit.edu	37	chr15	59911701	59911701	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtagatgataatgctcttCagtgcttagaagaataccta	14	12	9	6	0	2	4	1	1	1	3	2	4	2	4	1	1	3	3	1	1	7	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:59911701C>T	uc002age.3	+	2	1713	c.1264C>T	c.(1264-1266)Cag>Tag	p.Q422*	GCNT3_uc002agd.3_Nonsense_Mutation_p.Q422*|GCNT3_uc021smz.1_Nonsense_Mutation_p.Q422*	NM_004751	NP_004742	O95395	GCNT3_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 3, mucin type (GCNT3), mRNA.	422					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAATGCTCTTCAGTGCTTAGA	0.458													T	59911701	C	T	59911701	4	4	30	1	0	0	0	0	0	1	0	0	6356	827	29	2	1266	2	GCNT3	15	59911701	Nonsense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	725322	59911701	42619691	37	1860											
RASGRF1	5923	broad.mit.edu	37	chr15	79320175	79320175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttttccggatgttctccGtctcacttacttcatcgtgc	4	17	8	12	3	3	0	2	0	2	0	7	1	4	1	2	2	2	2	2	2	1	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr15:79320175G>A	uc002beq.3	-	8	1664	c.1289C>T	c.(1288-1290)aCg>aTg	p.T430M	RASGRF1_uc002bep.3_Missense_Mutation_p.T430M|RASGRF1_uc010blm.1_Missense_Mutation_p.T352M|RASGRF1_uc002ber.4_Missense_Mutation_p.T430M	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	430					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GATGTTCTCCGTCTCACTTAC	0.547													A	79320175	G	A	79320175	3	1	30	1	0	0	0	0	1	0	0	0	13160	1145	40	1	2612	1	RASGRF1	15	79320175	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	19408474	79320175	23211217	38	1861											
RPL3L	6123	broad.mit.edu	37	chr16	2002950	2002950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgaagctccggagacctCgaggggtggccacgtagccc	7	7	14	13	3	1	2	0	1	1	1	3	4	2	2	4	4	2	2	4	4	2	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:2002950C>T	uc002cnh.3	-	2	337	c.290G>A	c.(289-291)cGa>cAa	p.R97Q	TCRBV20S1_uc021tak.1_Intron	NM_005061	NP_005052	Q92901	RL3L_HUMAN	Homo sapiens ribosomal protein L3-like (RPL3L), mRNA.	97					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGAGACCTCGAGGGGTGGC	0.607													T	2002950	C	T	2002950	3	4	30	1	0	0	0	0	1	0	0	0	13685	884	31	1	965	1	RPL3L	16	2002950	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		2002950	88351803	39	1862											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524503	10524503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccagatagaagtaaacGgaagatattaaaagccaaaa	22	6	8	5	1	0	3	0	0	0	3	1	4	1	4	2	1	2	1	2	1	11	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:10524503G>A	uc002czw.3	+	1	185	c.26G>A	c.(25-27)cGg>cAg	p.R9Q	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R9Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.R9Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AGAAGTAAACGGAAGATATTA	0.348													A	10524503	G	A	10524503	3	1	30	1	0	0	0	0	1	0	0	0	1093	1116	39	1	28	1	ATF7IP2	16	10524503	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	8521553	10524503	79830250	40	1863											
ABCC1	4363	broad.mit.edu	37	chr16	16218658	16218658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcaggtggctggccgtGcggctggagtgtgtgggcaa	4	8	21	8	3	0	0	0	0	0	0	0	1	0	1	1	7	1	4	1	7	1	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:16218658G>A	uc010bvi.3	+	24	3778	c.3603G>A	c.(3601-3603)gtG>gtA	p.V1201V	ABCC1_uc010bvj.3_Silent_p.V1142V|ABCC1_uc010bvk.3_Silent_p.V1145V|ABCC1_uc010bvl.3_Silent_p.V1201V|ABCC1_uc010bvm.3_Silent_p.V1086V|ABCC1_uc002del.4_Silent_p.V1095V|ABCC1_uc021tds.1_Intron|ABCC1_uc021tdt.1_Intron	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1201	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCTGGCCGTGCGGCTGGAGT	0.592													A	16218658	G	A	16218658	2	1	30	1	0	0	0	0	0	0	0	1	49	1306	46	2		2	ABCC1	16	16218658	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08	5694155	16218658	74136095	41	1864											
CLEC3A	10143	broad.mit.edu	37	chr16	78064579	78064579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagtttgttgacgtcaaCggaatcgctatctccttcct	8	13	9	11	3	2	1	1	1	1	0	5	2	3	2	2	2	1	4	2	2	4	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr16:78064579C>T	uc002ffh.4	+	2	516	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CLEC3A_uc021tlr.1_Silent_p.N93N	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	145	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						TTGACGTCAACGGAATCGCTA	0.527													T	78064579	C	T	78064579	2	4	30	1	0	0	0	0	0	0	0	1	3541	535	19	1		1	CLEC3A	16	78064579	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08	61845921	78064579	12290174	42	1865											
MYH1	4619	broad.mit.edu	37	chr17	10415407	10415407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacctgctgcacagtttgaCctttggtgacatactcattg	8	15	8	10	0	1	2	1	2	0	0	1	2	1	2	2	1	4	3	2	1	2	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:10415407C>A	uc002gmo.3	-	12	1344	c.1250G>T	c.(1249-1251)gGt>gTt	p.G417V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	417	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CACAGTTTGACCTTTGGTGAC	0.463													A	10415407	C	A	10415407	3	1	30	1	0	0	0	0	1	0	0	0	10105	507	18	4	4681	4	MYH1	17	10415407	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		10415407	70779803	43	1866											
MYO19	80179	broad.mit.edu	37	chr17	34864958	34864958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgctgttgatcactgataCcagccagtcaaacaacctgt	11	10	8	12	0	2	2	2	2	0	0	2	2	2	2	3	0	5	3	3	0	3	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:34864958C>T	uc010wcy.2	-	14	2166	c.1174G>A	c.(1174-1176)Gta>Ata	p.V392I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.V392I|MYO19_uc010wcz.1_Non-coding_Transcript	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	392	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity	p.V392V(1)		endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		ATCACTGATACCAGCCAGTCA	0.537													T	34864958	C	T	34864958	3	4	30	1	0	0	0	0	1	0	0	0	10143	507	18	2	1790	2	MYO19	17	34864958	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	24449551	34864958	46330252	44	1867											
MPP3	4356	broad.mit.edu	37	chr17	41898381	41898381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctcctggcaagggatggCccggtcctcccgagggttgt	4	8	15	14	3	0	0	0	0	0	0	3	2	3	1	5	5	0	2	5	5	1	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr17:41898381C>T	uc002ieh.3	-	8	1066	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	MPP3_uc002iei.4_Missense_Mutation_p.A244T|MPP3_uc002iej.3_Non-coding_Transcript|MPP3_uc010czi.2_Missense_Mutation_p.A244T|MPP3_uc010wik.2_Missense_Mutation_p.A269T	NM_001932	NP_001923	Q13368	MPP3_HUMAN	Homo sapiens membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3) (MPP3), transcript variant 1, mRNA.	244	SH3.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CAAGGGATGGCCCGGTCCTCC	0.677													T	41898381	C	T	41898381	3	4	30	1	0	0	0	0	1	0	0	0	9811	739	26	2	1067	2	MPP3	17	41898381	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	7033423	41898381	39296829	45	1868											
SPIRE1	56907	broad.mit.edu	37	chr18	12496095	12496095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccgagggggaatatcacCattcacctaaaaggagacaa	17	6	9	9	1	2	1	2	0	0	1	2	4	2	2	3	3	1	0	3	3	6	4			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr18:12496095C>A	uc002kre.3	-	6	1026	c.979G>T	c.(979-981)Ggt>Tgt	p.G327C	SPIRE1_uc002krc.3_Non-coding_Transcript|SPIRE1_uc010wzw.2_Missense_Mutation_p.G207C|SPIRE1_uc010wzx.2_Missense_Mutation_p.G130C|SPIRE1_uc010wzy.2_Missense_Mutation_p.G327C	NM_001128626	NP_001122098	Q08AE8	SPIR1_HUMAN	Homo sapiens spire homolog 1 (Drosophila) (SPIRE1), transcript variant 1, mRNA.	327						cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						GGAATATCACCATTCACCTAA	0.358													A	12496095	C	A	12496095	3	1	30	1	0	0	0	0	1	0	0	0	15167	594	21	4	1335	4	SPIRE1	18	12496095	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08		12496095	65581153	46	1869											
ILF3	3609	broad.mit.edu	37	chr19	10798360	10798360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggggcgggggcggatccGactacaactacgagagcaaa	11	3	16	11	5	0	1	0	0	0	1	1	4	1	2	2	5	4	1	2	5	4	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:10798360G>A	uc002mpn.3	+	17	2715	c.2398G>A	c.(2398-2400)Gac>Aac	p.D800N	ILF3_uc002mpo.3_Missense_Mutation_p.D804N|ILF3_uc002mpq.3_Silent_p.P102P	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	800	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCGGATCCGACTACAACTA	0.617													A	10798360	G	A	10798360	3	1	30	1	0	0	0	0	1	0	0	0	7770	1058	37	1	2548	1	ILF3	19	10798360	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		10798360	48330623	47	1870											
LDLR	3949	broad.mit.edu	37	chr19	11233883	11233883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggccacccaggagacatCcaccgtcaggctaaaggtca	12	5	11	13	1	2	1	2	0	0	1	3	2	3	1	4	4	0	1	4	4	2	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:11233883C>A	uc002mqk.4	+	14	2361	c.2174C>A	c.(2173-2175)tCc>tAc	p.S725Y	LDLR_uc010xlk.2_Missense_Mutation_p.S725Y|LDLR_uc010xll.2_Missense_Mutation_p.S684Y|LDLR_uc021upc.1_Missense_Mutation_p.S604Y|LDLR_uc010xln.2_Missense_Mutation_p.S547Y|LDLR_uc010xlo.2_Missense_Mutation_p.S557Y|LDLR_uc010xlm.2_Missense_Mutation_p.S578Y|LDLR_uc021upd.1_Missense_Mutation_p.S462Y	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	725	Clustered O-linked oligosaccharides.				cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity			breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CAGGAGACATCCACCGTCAGG	0.607													A	11233883	C	A	11233883	3	1	30	1	0	0	0	0	1	0	0	0	8763	855	30	4	2232	4	LDLR	19	11233883	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	435523	11233883	47895100	48	1871											
FBL	2091	broad.mit.edu	37	chr19	40328442	40328442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaagttaatgaggtcacgGccagagcggtgggagaactc	11	6	15	9	2	1	3	1	1	0	2	2	4	1	3	2	4	2	1	2	4	3	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:40328442G>A	uc002omn.3	-	5	705	c.591C>T	c.(589-591)ggC>ggT	p.G197G	FBL_uc002omm.1_Silent_p.G111G|FBL_uc002omo.2_Silent_p.G196G	NM_001436	NP_001427	P22087	FBRL_HUMAN	Homo sapiens fibrillarin (FBL), mRNA.	197					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TGAGGTCACGGCCAGAGCGGT	0.473													A	40328442	G	A	40328442	2	1	30	1	0	0	0	0	0	0	0	1	5745	1190	42	2		2	FBL	19	40328442	Silent	SNP	G	TCGA-06-0166-01A-01D-1491-08	29094559	40328442	18800541	49	1872											
ZNF180	7733	broad.mit.edu	37	chr19	44981674	44981674	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattatttctcatgttttGagtaagggaggaactatgag	13	14	11	3	0	1	3	1	2	1	1	2	5	1	5	0	2	1	2	0	2	5	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:44981674G>A	uc002ozf.4	-	4	1306	c.1024C>T	c.(1024-1026)Caa>Taa	p.Q342*	ZNF180_uc002ozh.4_5'UTR|ZNF180_uc002ozi.4_Nonsense_Mutation_p.Q315*|ZNF180_uc002ozg.4_Nonsense_Mutation_p.Q341*|ZNF180_uc010ejm.3_Nonsense_Mutation_p.Q317*	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CTCATGTTTTGAGTAAGGGAG	0.378													A	44981674	G	A	44981674	4	1	30	1	0	0	0	0	0	1	0	0	17849	1299	45	2	1058	2	ZNF180	19	44981674	Nonsense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	4653232	44981674	14147309	50	1873											
FPR3	2359	broad.mit.edu	37	chr19	52327921	52327921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctacgtctttatgggtcGtaacttccaagaaagactga	11	13	8	9	2	2	3	0	1	2	2	5	3	3	3	1	1	2	1	1	1	5	5			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr19:52327921G>A	uc002pxt.1	+	1	1104	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FPR3_uc021uyq.1_Missense_Mutation_p.R307H	NM_002030	NP_002021	P25089	FPR3_HUMAN	Homo sapiens formyl peptide receptor 3 (FPR3), mRNA.	307					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTTATGGGTCGTAACTTCCAA	0.473													A	52327921	G	A	52327921	3	1	30	1	0	0	0	0	1	0	0	0	6091	1145	40	1	922	1	FPR3	19	52327921	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	7346247	52327921	6801062	51	1874											
MMP24	10893	broad.mit.edu	37	chr20	33851598	33851598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acactcctctccacagggaaCgacctcttcctggtggctgt	7	10	9	15	1	2	0	0	0	2	0	5	2	4	1	4	3	1	1	4	3	1	1			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chr20:33851598C>T	uc002xbu.2	+	4	825	c.822C>T	c.(820-822)aaC>aaT	p.N274N	EDEM2_uc010zuv.1_Intron	NM_006690	NP_006681	Q9Y5R2	MMP24_HUMAN	Homo sapiens matrix metallopeptidase 24 (membrane-inserted) (MMP24), mRNA.	274					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCACAGGGAACGACCTCTTCC	0.627													T	33851598	C	T	33851598	2	4	30	1	0	0	0	0	0	0	0	1	9737	535	19	1		1	MMP24	20	33851598	Silent	SNP	C	TCGA-06-0166-01A-01D-1491-08		33851598	29173922	52	1875											
BCOR	54880	broad.mit.edu	37	chrX	39932171	39932171	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagcatctggttcttctcGgagaaggtctacgtagacaa	10	13	10	8	2	4	2	0	0	4	2	5	3	4	2	0	3	2	3	0	3	5	6			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:39932171G>A	uc004den.4	-	3	2720	c.2428C>T	c.(2428-2430)Cga>Tga	p.R810*	BCOR_uc004dep.4_Nonsense_Mutation_p.R810*|BCOR_uc004deo.4_Nonsense_Mutation_p.R810*|BCOR_uc004dem.4_Nonsense_Mutation_p.R810*|BCOR_uc004deq.4_Nonsense_Mutation_p.R810*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	810					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGTTCTTCTCGGAGAAGGTCT	0.522			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39932171	G	A	39932171	4	1	30	1	0	0	0	0	0	1	0	0	1391	1124	39	1	2887	1	BCOR	23	39932171	Nonsense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08		39932171	115338389	53	1876											
OTUD5	55593	broad.mit.edu	37	chrX	48814319	48814319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgttgtagcctgcgcCgacctcctcacgctcgggac	5	9	10	17	4	2	0	2	0	0	0	4	2	3	1	4	1	2	3	4	1	1	2			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:48814319C>T	uc004dlu.3	-	0	575	c.514G>A	c.(514-516)Ggc>Agc	p.G172S	OTUD5_uc004dlt.4_Missense_Mutation_p.G172S|OTUD5_uc004dlv.3_Missense_Mutation_p.G172S|OTUD5_uc011mmp.2_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	172	Gly-rich.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						TAGCCTGCGCCGACCTCCTCA	0.687													T	48814319	C	T	48814319	3	4	30	1	0	0	0	0	1	0	0	0	11391	652	23	1	1237	1	OTUD5	23	48814319	Missense_Mutation	SNP	C	TCGA-06-0166-01A-01D-1491-08	8882148	48814319	106456241	54	1877											
MED12	9968	broad.mit.edu	37	chrX	70349202	70349202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccgctcctcctgcgaccGccacctgctggctgcctccc	4	8	8	21	3	0	0	0	0	0	0	4	1	4	0	8	1	3	3	8	1	1	0			TCGA-06-0166-01A-01D-1491-08	TCGA-06-0166-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	70157018-a3c5-4ef8-9314-f8715a3438a4	57898bbf-fde2-4dc4-9b2b-a9f8cd402cb0	g.chrX:70349202G>A	uc004dyy.3	+	25	3813	c.3614G>A	c.(3613-3615)cGc>cAc	p.R1205H	MED12_uc011mpq.1_Missense_Mutation_p.R1205H|MED12_uc004dyz.3_Missense_Mutation_p.R1205H|MED12_uc004dza.3_Missense_Mutation_p.R1052H|MED12_uc010nla.3_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	1205					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TCCTGCGACCGCCACCTGCTG	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70349202	G	A	70349202	3	1	30	1	0	0	0	0	1	0	0	0	9503	1087	38	1	3716	1	MED12	23	70349202	Missense_Mutation	SNP	G	TCGA-06-0166-01A-01D-1491-08	21534883	70349202	84921358	55	1878											
NPNT	255743	broad.mit.edu	37	chr4	106888371	106888371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatctgacagtgtcggcaGccaaagccccagggggaaaa	14	5	12	10	1	1	1	0	1	1	0	2	2	1	2	3	3	2	1	3	3	5	1	rs146652028		TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr4:106888371G>A	uc011cfd.2	+	11	1675	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	NPNT_uc011cfc.2_Missense_Mutation_p.A475T|NPNT_uc011cfe.2_Missense_Mutation_p.A459T|NPNT_uc003hya.3_Missense_Mutation_p.A458T|NPNT_uc011cff.2_Missense_Mutation_p.A429T	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	458	MAM.				cell differentiation	membrane	calcium ion binding	p.A458T(1)		kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		AGTGTCGGCAGCCAAAGCCCC	0.552													A	106888371	G	A	106888371	3	1	31	1	0	0	0	0	1	0	0	0	10666	971	34	2	1563	2	NPNT	4	106888371	Missense_Mutation	SNP	G	TCGA-06-0167-01A-01D-1491-08		106888371	84265905	1	1879											
SEC24B	10427	broad.mit.edu	37	chr4	110437770	110437770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatatttgacaattttgtgCcagtcactcctagaaaatct	12	14	7	8	0	2	2	1	1	1	1	3	3	3	3	2	1	1	0	2	1	5	5			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr4:110437770C>T	uc003hzk.3	+	10	2155	c.2100C>T	c.(2098-2100)tgC>tgT	p.C700C	SEC24B_uc003hzl.3_Silent_p.C665C|SEC24B_uc011cfp.2_Silent_p.C730C|SEC24B_uc011cfq.2_Silent_p.C699C|SEC24B_uc011cfr.2_Silent_p.C664C	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	700					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318													T	110437770	C	T	110437770	2	4	31	1	0	0	0	0	0	0	0	1	14088	747	26	2		2	SEC24B	4	110437770	Silent	SNP	C	TCGA-06-0167-01A-01D-1491-08	3549399	110437770	80716506	2	1880											
C6orf203	51250	broad.mit.edu	37	chr6	107372330	107372330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaacagagacagttatgCggattctcttgaaaaaagtg	15	9	11	6	1	1	2	0	1	1	1	2	5	1	4	0	2	2	1	0	2	5	3			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr6:107372330C>T	uc011eaj.2	+	4	1303	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	C6orf203_uc003prq.3_Missense_Mutation_p.R205W|C6orf203_uc010kde.3_Missense_Mutation_p.R205W	NM_001142470	NP_057571	Q9P0P8	CF203_HUMAN	Homo sapiens chromosome 6 open reading frame 203 (C6orf203), transcript variant 3, mRNA.	205										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383													T	107372330	C	T	107372330	3	4	31	1	0	0	0	0	1	0	0	0	2374	759	27	1	642	1	C6orf203	6	107372330	Missense_Mutation	SNP	C	TCGA-06-0167-01A-01D-1491-08		107372330	63742737	3	1881											
RTF1	23168	broad.mit.edu	37	chr15	41763442	41763442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcgggttcgattatcacgGcataagctagaacgctggtg	11	10	12	8	4	1	1	1	0	0	1	3	2	1	1	0	3	2	4	0	3	5	4			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr15:41763442G>A	uc001zny.3	+	7	1110	c.1098G>A	c.(1096-1098)cgG>cgA	p.R366R		NM_015138	NP_055953	Q92541	RTF1_HUMAN	Homo sapiens Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (RTF1), mRNA.	366	Plus3.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding	p.R241R(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GATTATCACGGCATAAGCTAG	0.458													A	41763442	G	A	41763442	2	1	31	1	0	0	0	0	0	0	0	1	13812	1190	42	2		2	RTF1	15	41763442	Silent	SNP	G	TCGA-06-0167-01A-01D-1491-08		41763442	60767950	4	1882											
MRPL10	124995	broad.mit.edu	37	chr17	45905957	45905957	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcacagccatcagcttctgCcgctgaaagtgcatcacacg	10	8	9	14	2	4	1	3	1	1	0	4	1	4	1	2	0	4	3	2	0	1	1			TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chr17:45905957C>T	uc002ily.3	-	2	260	c.162G>A	c.(160-162)cgG>cgA	p.R54R	MRPL10_uc002ilz.3_Silent_p.R44R|MRPL10_uc010wky.2_Silent_p.R5R	NM_148887	NP_683685	Q7Z7H8	RM10_HUMAN	Homo sapiens mitochondrial ribosomal protein L10 (MRPL10), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	44					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						TCAGCTTCTGCCGCTGAAAGT	0.597													T	45905957	C	T	45905957	2	4	31	1	0	0	0	0	0	0	0	1	9851	726	26	2		2	MRPL10	17	45905957	Silent	SNP	C	TCGA-06-0167-01A-01D-1491-08		45905957	35289253	5	1883											
MSL3	10943	broad.mit.edu	37	chrX	11790350	11790350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccctcttacatttatgggGcacaacatttgctgcgattg	9	13	8	11	1	1	0	0	0	1	0	1	1	1	0	1	2	4	2	1	2	3	5	rs140880282		TCGA-06-0167-01A-01D-1491-08	TCGA-06-0167-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d530c696-235d-4a41-944d-e7f7ae21aa17	74292da7-2a53-455d-8d33-438db411fa67	g.chrX:11790350G>A	uc004cuw.3	+	10	1462	c.1357G>A	c.(1357-1359)Gca>Aca	p.A453T	MSL3_uc011mig.2_Missense_Mutation_p.A304T|MSL3_uc011mih.2_Missense_Mutation_p.A441T|MSL3_uc004cuy.3_Missense_Mutation_p.A287T	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	453					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						CATTTATGGGGCACAACATTT	0.463													A	11790350	G	A	11790350	3	1	31	1	0	0	0	0	1	0	0	0	9955	1203	42	2	1479	2	MSL3	23	11790350	Missense_Mutation	SNP	G	TCGA-06-0167-01A-01D-1491-08		11790350	143480210	6	1884											
RBBP4	5928	broad.mit.edu	37	chr1	33134833	33134833	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttttttcactgaagtTgggatactcgttcaaacaat	10	18	7	6	1	2	1	2	1	0	0	3	2	2	2	0	1	2	3	0	1	4	7			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:33134833T>G	uc001bvr.3	+	7	921	c.762_splice	c.e7-1	p.I254_splice	RBBP4_uc001bvs.3_Splice_Site_p.I253_splice|RBBP4_uc010ohj.2_Splice_Site_p.I2_splice|RBBP4_uc010ohk.2_Splice_Site_p.I219_splice	NM_005610	NP_001128728	Q09028	RBBP4_HUMAN	Homo sapiens retinoblastoma binding protein 4 (RBBP4), transcript variant 1, mRNA.	254					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TCACTGAAGTTGGGATACTCG	0.353													G	33134833	T	G	33134833	3	3	32	1	0	0	0	0	1	0	0	0	13189	1826	63	5	789	5	RBBP4	1	33134833	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08		33134833	216115788	1	1885											
CYP4A11	1579	broad.mit.edu	37	chr1	47399686	47399686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgccaatgcctggcaccGgtgggtagagcctcagtgcc	6	8	13	14	1	2	1	1	0	1	1	2	1	2	1	5	3	4	2	5	3	2	1	rs66477740		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:47399686G>A	uc001cqp.4	-	8	1205	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L	CYP4A11_uc001cqq.2_Missense_Mutation_p.P385L|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	385					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCTGGCACCGGTGGGTAGAG	0.567													A	47399686	G	A	47399686	3	1	32	1	0	0	0	0	1	0	0	0	4216	1116	39	1	421	1	CYP4A11	1	47399686	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	14264853	47399686	201850935	2	1886											
LRP8	7804	broad.mit.edu	37	chr1	53732253	53732253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggcgtgaatagttcCgcttcaccaggtcgatcctc	8	10	12	11	3	1	2	1	2	0	0	5	4	3	3	3	3	0	2	3	3	2	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:53732253C>T	uc001cvi.2	-	8	1556	c.1319G>A	c.(1318-1320)cGg>cAg	p.R440Q	LRP8_uc001cvh.2_5'UTR|LRP8_uc001cvj.2_Missense_Mutation_p.R440Q|LRP8_uc001cvk.2_Missense_Mutation_p.R270Q|LRP8_uc001cvl.2_Missense_Mutation_p.R311Q|LRP8_uc001cvm.1_Missense_Mutation_p.R25Q	NM_004631	NP_004622	Q14114	LRP8_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 8, apolipoprotein e receptor (LRP8), transcript variant 1, mRNA.	440					cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						TGAATAGTTCCGCTTCACCAG	0.537													T	53732253	C	T	53732253	3	4	32	1	0	0	0	0	1	0	0	0	9033	652	23	1	1616	1	LRP8	1	53732253	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	6332567	53732253	195518368	3	1887											
FLG	2312	broad.mit.edu	37	chr1	152285273	152285273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttgatcttgcctgttcatGggatgacgcagcctgtccac	7	12	10	12	1	2	2	1	2	1	0	3	3	3	3	3	1	2	2	3	1	0	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152285273G>T	uc001ezu.1	-	2	2125	c.2089C>A	c.(2089-2091)Cat>Aat	p.H697N	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	697	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGTTCATGGGATGACGCA	0.557									Ichthyosis				T	152285273	G	T	152285273	3	4	32	1	0	0	0	0	1	0	0	0	5971	1348	47	4	10100	4	FLG	1	152285273	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	98553020	152285273	96965348	4	1888											
LCE1F	353137	broad.mit.edu	37	chr1	152748961	152748961	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgtccccctaagtgcccTcctgtctcttcctgctgcag	5	12	8	16	0	1	0	0	0	1	0	5	0	4	0	5	0	3	2	5	0	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:152748961T>C	uc010pdv.2	+	0	114	c.114T>C	c.(112-114)ccT>ccC	p.P38P		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	38	Pro-rich.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctaagtgccctccTGTCTCTT	0.672													C	152748961	T	C	152748961	2	2	32	1	0	0	0	0	0	0	0	1	8723	1538	54	3		3	LCE1F	1	152748961	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08	463688	152748961	96501660	5	1889											
USH2A	7399	broad.mit.edu	37	chr1	215814045	215814045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacagacaaattgctGtccaccgaaaatggggctcg	13	6	9	13	2	0	1	0	0	0	1	2	2	1	1	3	2	1	2	3	2	3	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:215814045G>A	uc001hku.1	-	67	15210	c.14823C>T	c.(14821-14823)gaC>gaT	p.D4941D		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4941	Fibronectin type-III 35.				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)		ACAAATTGCTGTCCACCGAAA	0.507										HNSCC(13;0.011)			A	215814045	G	A	215814045	2	1	32	1	0	0	0	0	0	0	0	1	17138	1368	48	2		2	USH2A	1	215814045	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	63065084	215814045	33436576	6	1890											
LYST	1130	broad.mit.edu	37	chr1	235969724	235969724	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttacgcataaaaaagcCacacagaggaataggtttat	17	10	7	7	1	0	1	0	0	0	1	0	2	0	2	1	2	3	2	1	2	8	6			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr1:235969724C>T	uc001hxj.2	-	5	2887	c.2712G>A	c.(2710-2712)gtG>gtA	p.V904V	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.V904V	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	904					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATAAAAAAGCCACACAGAGGA	0.428													T	235969724	C	T	235969724	2	4	32	1	0	0	0	0	0	0	0	1	9199	581	21	2		2	LYST	1	235969724	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	20155679	235969724	13280897	7	1891											
MTA3	57504	broad.mit.edu	37	chr2	42883411	42883411	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatagcccacttacggatCgacagattgaccagttttta	13	11	7	10	2	0	2	0	1	0	1	1	4	0	3	2	1	2	1	2	1	4	6			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:42883411C>T	uc002rso.1	+	7	1073	c.403C>T	c.(403-405)Cga>Tga	p.R135*	MTA3_uc002rsp.1_Nonsense_Mutation_p.R135*|MTA3_uc002rsq.3_Nonsense_Mutation_p.R191*	NM_020744	NP_065795	Q9BTC8	MTA3_HUMAN	Homo sapiens metastasis associated 1 family, member 3 (MTA3), mRNA.	191	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V135V(1)		endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ACTTACGGATCGACAGATTGA	0.328													T	42883411	C	T	42883411	4	4	32	1	0	0	0	0	0	1	0	0	9986	876	31	1	597	1	MTA3	2	42883411	Nonsense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		42883411	200315962	8	1892											
REV1	51455	broad.mit.edu	37	chr2	100024503	100024507	+	Frame_Shift_Del	DEL	TGATA	TGATA	-																															atacttacccctctcatatcTgatatatttagtttcattgt																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:100024503_100024507delTGATA	uc002tad.3	-	14	2644_2648	c.2432_2436delTATCA	c.(2431-2436)atatcafs	p.I811fs	REV1_uc002tac.3_Frame_Shift_Del_p.I810fs	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	811					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding	p.I811M(2)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCATATCTGATATATTTAGTTT	0.346								Direct reversal of damage					-	100024507	TGATA	-	100024503	7	5	32	1	0	1	0	1	0	0	0	0	13327	1567	55	0	1355	0	REV1	2	100024503	Frame_Shift_Del	DEL	TGATA	TCGA-06-0168-01A-01D-1491-08	57141092	100024503	143174870	9	1893											
SEPT10	151011	broad.mit.edu	37	chr2	110303622	110303625	+	Splice_Site	DEL	CTTA	CTTA	-																															cagggagggtggctgggcctCttacttcttacggtccttgt																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:110303622_110303625delCTTA	uc002tey.3	-	10	1728	c.1349_splice	c.e10+1	p.K450_splice	SEPT10_uc010ywu.1_Stop_Codon_Del|SEPT10_uc002tew.3_Splice_Site_p.N450_splice|SEPT10_uc002tex.3_Splice_Site_p.N427_splice|SEPT10_uc010ywv.2_Splice_Site_p.N316_splice|SEPT10_uc002tev.1_Stop_Codon_Del|SEPT10_uc010fjo.3_Splice_Site	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	0					cell cycle|cell division	septin complex	GTP binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						GGCTGGGCCTCTTACTTCTTACGG	0.505											OREG0014878	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	110303625	CTTA	-	110303622	8	5	32	1	0	1	0	1	0	0	1	0	14153	928	32	0		0	SEPT10	2	110303622	Splice_Site	DEL	CTTA	TCGA-06-0168-01A-01D-1491-08	10279119	110303622	132895751	10	1894											
POTEF	728378	broad.mit.edu	37	chr2	130877828	130877828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcttcatagcagagtcGtcgtggtctccagaagcgcc	8	10	12	11	3	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:130877828G>T	uc010fmh.2	-	2	661	c.261C>A	c.(259-261)gaC>gaA	p.D87E		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TAGCAGAGTCGTCGTGGTCTC	0.612													T	130877828	G	T	130877828	3	4	32	1	0	0	0	0	1	0	0	0	12342	1136	40	4	3026	4	POTEF	2	130877828	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	20574206	130877828	112321545	11	1895											
ITGAV	3685	broad.mit.edu	37	chr2	187506166	187506166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catggatcgtggctctgatgGcaaactccaagaggtggggc	9	8	15	9	1	1	2	0	1	1	1	3	3	2	3	1	6	1	2	1	6	2	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:187506166G>A	uc002upq.3	+	11	1286	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	ITGAV_uc010frs.3_Missense_Mutation_p.G301D|ITGAV_uc010zfv.2_Missense_Mutation_p.G291D	NM_002210	NP_002201	P06756	ITAV_HUMAN	Homo sapiens integrin, alpha V (vitronectin receptor, alpha polypeptide, antigen CD51) (ITGAV), transcript variant 1, mRNA.	337					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		GGCTCTGATGGCAAACTCCAA	0.458													A	187506166	G	A	187506166	3	1	32	1	0	0	0	0	1	0	0	0	7946	1203	42	2	1107	2	ITGAV	2	187506166	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	56628338	187506166	55693207	12	1896											
SGOL2	151246	broad.mit.edu	37	chr2	201437521	201437521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtatgtcaaaagtcagaaAtaattcctgaaaccaaccaa	19	9	5	8	0	2	2	2	1	0	1	3	2	3	2	3	0	2	1	3	0	8	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr2:201437521A>G	uc002uvw.2	+	6	2565	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V	SGOL2_uc010zhd.1_Missense_Mutation_p.I818V|SGOL2_uc010zhe.1_Missense_Mutation_p.I818V	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	818					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTCAGAAATAATTCCTGA	0.348													G	201437521	A	G	201437521	3	3	32	1	0	0	0	0	1	0	0	0	14310	101	4	3	2474	3	SGOL2	2	201437521	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08	13931355	201437521	41761852	13	1897											
FGFR3	2261	broad.mit.edu	37	chr4	1807889	1807889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacctcgactactacaagAagacgaccaacgtgagcccg	15	4	8	14	4	0	3	0	1	0	2	1	5	0	3	3	0	5	0	3	0	6	2	rs78311289		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:1807889A>G	uc003gdr.3	+	13	2204	c.1948A>G	c.(1948-1950)Aag>Gag	p.K650E	FGFR3_uc003gdu.2_Missense_Mutation_p.K652E|FGFR3_uc003gds.3_Missense_Mutation_p.K538E|FGFR3_uc003gdq.3_Missense_Mutation_p.K651E	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	650	Protein kinase.		K -> E (in KERSEB, TD2 and bladder cancer samples; bladder transitional cell carcinoma; somatic mutation).|K -> M (in KERSEB, ACH and TD1).|K -> Q (in hypochondroplasia and bladder cancer; in hypochondroplasia the form is milder than that seen in individuals with the K-540 or M-650 mutations).		bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.K650E(121)|p.K650M(81)|p.K650Q(10)|p.K650T(5)|p.K650N(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CTACTACAAGAAGACGACCAA	0.667		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				G	1807889	A	G	1807889	3	3	32	1	0	0	0	0	1	0	0	0	5916	247	9	3	2153	3	FGFR3	4	1807889	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08		1807889	189346387	14	1898											
BANK1	55024	broad.mit.edu	37	chr4	102984233	102984233	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtttccacattaaggAgaaattacgacaactacgag	14	11	9	7	2	0	1	0	0	0	1	1	4	1	1	1	2	3	2	1	2	5	5			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:102984233A>C	uc003hvy.4	+	13	2423	c.2149_splice	c.e13-1	p.E717_splice	BANK1_uc003hvx.4_Splice_Site_p.E702_splice|BANK1_uc010ill.3_Splice_Site_p.E584_splice|BANK1_uc003hvz.4_Splice_Site_p.E687_splice	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	717					B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		CACATTAAGGAGAAATTACGA	0.333													C	102984233	A	C	102984233	3	2	32	1	0	0	0	0	1	0	0	0	1314	318	11	5	2200	5	BANK1	4	102984233	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08	101176344	102984233	88170043	15	1899											
NDST4	64579	broad.mit.edu	37	chr4	115792048	115792048	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttgaccaagttcacaaagGtatataaccctaggcggtca	14	9	9	9	1	2	1	2	1	0	0	2	1	2	1	2	3	1	3	2	3	6	6			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:115792048G>C	uc003ibu.3	-	6	2274	c.1595C>G	c.(1594-1596)aCc>aGc	p.T532S	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	532	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTTCACAAAGGTATATAACCC	0.403													C	115792048	G	C	115792048	3	2	32	1	0	0	0	0	1	0	0	0	10334	1261	44	4	1055	4	NDST4	4	115792048	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	12807815	115792048	75362228	16	1900											
NDST3	9348	broad.mit.edu	37	chr4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattctccattgattcGtgtgaccaaatcttccaagc	9	14	5	13	1	3	2	1	2	2	0	7	2	5	2	4	0	1	0	4	0	2	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:118975673G>A	uc003ibx.3	+	1	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_uc011cgf.1_Missense_Mutation_p.R203H|NDST3_uc003ibw.3_Missense_Mutation_p.R203H	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	203	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358													A	118975673	G	A	118975673	3	1	32	1	0	0	0	0	1	0	0	0	10333	1145	40	1	610	1	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	3183625	118975673	72178603	17	1901											
ASB5	140458	broad.mit.edu	37	chr4	177190191	177190191	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcttaaaacagaacagCgaaagtattgtaaagtagac	21	7	8	5	1	0	2	0	0	0	2	0	3	0	2	0	0	4	4	0	0	10	5			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr4:177190191C>T	uc003iuq.2	-	0	183	c.69G>A	c.(67-69)tcG>tcA	p.S23S		NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	23					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AACAGAACAGCGAAAGTATTG	0.433													T	177190191	C	T	177190191	2	4	32	1	0	0	0	0	0	0	0	1	1031	755	27	1		1	ASB5	4	177190191	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	58214518	177190191	13964085	18	1902											
PCDHAC2	56145	broad.mit.edu	37	chr5	140182149	140182149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgacaatgcgccggcattctCgcagtccgagtacacggtgt	8	8	12	13	6	1	0	0	0	1	0	3	2	2	0	2	2	2	3	2	2	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140182149C>T	uc003lhf.2	+	0	1367	c.1367C>T	c.(1366-1368)tCg>tTg	p.S456L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S456L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S456L(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCATTCTCGCAGTCCGAG	0.672													T	140182149	C	T	140182149	3	4	32	1	0	0	0	0	1	0	0	0	11609	893	31	1		1	PCDHAC2	5	140182149	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		140182149	40733111	19	1903											
PCDHB13	56123	broad.mit.edu	37	chr5	140595338	140595338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcgaggcgctggtgcGcgtggtggtgctggacgcca	5	6	20	10	5	0	0	0	0	0	0	0	3	0	1	1	5	4	3	1	5	0	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr5:140595338G>A	uc003lja.1	+	0	1830	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	548	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGCTGGTGCGCGTGGTGGTG	0.716													A	140595338	G	A	140595338	3	1	32	1	0	0	0	0	1	0	0	0	11614	1087	38	1	1645	1	PCDHB13	5	140595338	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	413189	140595338	40319922	20	1904											
PRPF4B	8899	broad.mit.edu	37	chr6	4042762	4042762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagaagatgaagaagcccTaatagaacagagaagaatcc	20	4	11	6	0	0	7	0	1	0	6	1	9	1	8	2	1	2	0	2	1	9	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:4042762T>C	uc003mvv.3	+	4	1701	c.1610T>C	c.(1609-1611)cTa>cCa	p.L537P	PRPF4B_uc003mvw.3_Non-coding_Transcript|PRPF4B_uc011dhv.1_Non-coding_Transcript	NM_003913	NP_003904	Q13523	PRP4B_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog B (yeast) (PRPF4B), mRNA.	537						catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GAAGAAGCCCTAATAGAACAG	0.313													C	4042762	T	C	4042762	3	2	32	1	0	0	0	0	1	0	0	0	12659	1522	53	3	1628	3	PRPF4B	6	4042762	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08		4042762	167072305	21	1905											
OR2H1	26716	broad.mit.edu	37	chr6	29430141	29430141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaaatccagttggctGtgtccagtgtcatcttcgtg	9	13	10	9	1	2	1	1	1	1	0	5	1	4	1	2	1	0	2	2	1	2	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:29430141G>C	uc003nmi.3	+	2	1038	c.595G>C	c.(595-597)Gtg>Ctg	p.V199L	OR2H1_uc003nmj.1_Missense_Mutation_p.V199L|OR2H1_uc010jri.2_Missense_Mutation_p.V121L|OR2H1_uc021ytr.1_Missense_Mutation_p.V199L	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						CCAGTTGGCTGTGTCCAGTGT	0.512													C	29430141	G	C	29430141	3	2	32	1	0	0	0	0	1	0	0	0	11077	1377	48	4	597	4	OR2H1	6	29430141	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	25387379	29430141	141684926	22	1906											
DST	667	broad.mit.edu	37	chr6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacatcatacctggcGtcttttcaaatagtcaagtg	13	13	6	9	1	5	0	4	0	1	0	5	0	5	0	1	1	2	0	1	1	6	5			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E146K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343													A	56566691	G	A	56566691	3	1	32	1	0	0	0	0	1	0	0	0	4822	1160	40	1		1	DST	6	56566691	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	27136550	56566691	114548376	23	1907											
SASH1	23328	broad.mit.edu	37	chr6	148854037	148854037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccgaggcccgttctgcGggcgtgccagggtgcacacc	5	7	14	15	4	1	0	0	0	1	0	1	1	1	0	4	3	4	2	4	3	1	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr6:148854037G>A	uc003qme.1	+	13	2144	c.1669G>A	c.(1669-1671)Ggg>Agg	p.G557R	SASH1_uc011eeb.1_Missense_Mutation_p.G318R|SASH1_uc003qmf.1_5'UTR	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	557	SH3.						protein binding	p.G557R(2)		breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CCCGTTCTGCGGGCGTGCCAG	0.582													A	148854037	G	A	148854037	3	1	32	1	0	0	0	0	1	0	0	0	13940	1116	39	1	1723	1	SASH1	6	148854037	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	92287346	148854037	22261030	24	1908											
GRM3	2913	broad.mit.edu	37	chr7	86415679	86415679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattactttgccaggaccGtgccccccgacttctaccag	8	10	8	15	2	1	1	0	1	1	0	1	3	1	2	6	1	4	0	6	1	2	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:86415679G>A	uc003uid.3	+	2	1670	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	GRM3_uc010lef.3_Missense_Mutation_p.V189M|GRM3_uc010leg.3_Missense_Mutation_p.V63M|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	191					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCCAGGACCGTGCCCCCCGA	0.567													A	86415679	G	A	86415679	3	1	32	1	0	0	0	0	1	0	0	0	6853	1145	40	1	577	1	GRM3	7	86415679	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08		86415679	72722984	25	1909											
MUC17	140453	broad.mit.edu	37	chr7	100678176	100678176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcccagtgaaggaaccaCtccgttagcaagtatgcctg	11	8	9	13	1	0	1	0	1	0	0	2	2	2	2	5	1	3	3	5	1	5	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:100678176C>G	uc003uxp.1	+	2	3532	c.3479C>G	c.(3478-3480)aCt>aGt	p.T1160S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1160	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)					GAAGGAACCACTCCGTTAGCA	0.522													G	100678176	C	G	100678176	3	3	32	1	0	0	0	0	1	0	0	0	10050	565	20	4	3489	4	MUC17	7	100678176	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	14262497	100678176	58460487	26	1910											
PTPRZ1	5803	broad.mit.edu	37	chr7	121636615	121636615	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgacagatggctatcaaGacttggtaactatatgatca	13	14	8	6	0	2	4	2	2	0	2	2	4	2	4	0	2	1	2	0	2	5	7			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:121636615G>C	uc003vjy.3	+	8	1503	c.1108G>C	c.(1108-1110)Gac>Cac	p.D370H	PTPRZ1_uc011knt.2_Missense_Mutation_p.D370H|PTPRZ1_uc003vjz.3_Missense_Mutation_p.D370H	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	370	Fibronectin type-III.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TGGCTATCAAGACTTGGTAAC	0.338													C	121636615	G	C	121636615	3	2	32	1	0	0	0	0	1	0	0	0	12902	942	33	4	1142	4	PTPRZ1	7	121636615	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	20958439	121636615	37502048	27	1911											
EPHB6	2051	broad.mit.edu	37	chr7	142562429	142562430	+	Missense_Mutation	DNP	AA	AA	CC																															tgcactgcaacggggagggcAagtggatggtagctgtcggg																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr7:142562429_142562430AA>CC	uc011kst.2	+	6	1658_1659	c.871_872AA>CC	c.(871-873)aag>CCg	p.K291P	EPHB6_uc011ksu.2_Missense_Mutation_p.K291P|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR|EPHB6_uc003wbv.3_5'Flank	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	291	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CGGGGAGGGCAAGTGGATGGTA	0.653													CC	142562430	AA	CC	142562429	3	2	32	1	0	0	0	0	1	0	0	0	5219	131	5	5	881	5	EPHB6	7	142562429	Missense_Mutation	DNP	AA	TCGA-06-0168-01A-01D-1491-08	20925814	142562429	16576234	28	1912											
SLCO5A1	81796	broad.mit.edu	37	chr8	70594493	70594493	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattccatctgatccacAgactggctcatactcgtgta	10	13	7	11	1	2	2	1	1	1	1	5	2	4	2	2	1	1	3	2	1	3	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr8:70594493A>T	uc003xyl.3	-	6	2415	c.1708T>A	c.(1708-1710)Tgt>Agt	p.C570S	SLCO5A1_uc010lzb.3_Missense_Mutation_p.C515S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Missense_Mutation_p.C570S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	570	Kazal-like.					integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TCTGATCCACAGACTGGCTCA	0.428													T	70594493	A	T	70594493	3	4	32	1	0	0	0	0	1	0	0	0	14825	188	7	5	854	5	SLCO5A1	8	70594493	Missense_Mutation	SNP	A	TCGA-06-0168-01A-01D-1491-08		70594493	75769529	29	1913											
C9orf66	157983	broad.mit.edu	37	chr9	214614	214614	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggcagatggagcttccgGcctgcgcgcagtggtcgcct	4	8	16	13	5	0	1	0	0	0	1	3	2	1	2	3	4	2	3	3	4	0	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:214614G>T	uc003zge.4	-	0	1280	c.783C>A	c.(781-783)ggC>ggA	p.G261G	DOCK8_uc011lls.1_5'Flank|DOCK8_uc003zgf.2_5'Flank	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	261	Arg-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGAGCTTCCGGCCTGCGCGCA	0.711													T	214614	G	T	214614	2	4	32	1	0	0	0	0	0	0	0	1	2516	1190	42	4		4	C9orf66	9	214614	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		214614	140998817	30	1914											
SVEP1	79987	broad.mit.edu	37	chr9	113169426	113169426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcatcccagtttttGtcatcctggcatgttctcct	5	17	5	14	0	4	0	3	0	1	0	8	0	7	0	4	1	0	3	4	1	0	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr9:113169426G>C	uc010mtz.3	-	37	8791	c.8454C>G	c.(8452-8454)gaC>gaG	p.D2818E	SVEP1_uc010mty.3_Missense_Mutation_p.D744E	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2818	Sushi 23.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CCCAGTTTTTGTCATCCTGGC	0.512													C	113169426	G	C	113169426	3	2	32	1	0	0	0	0	1	0	0	0	15516	1368	48	4	2305	4	SVEP1	9	113169426	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	112954812	113169426	28044005	31	1915											
RTKN2	219790	broad.mit.edu	37	chr10	63957964	63957964	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttaagctgaatggaagTttatcagaaggaggaagggg	14	10	15	2	0	1	2	1	1	0	1	1	6	1	5	0	5	1	2	0	5	6	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:63957964T>C	uc001jlw.3	-	11	1630	c.1533A>G	c.(1531-1533)aaA>aaG	p.K511K	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.K165K	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	511					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					TGAATGGAAGTTTATCAGAAG	0.398													C	63957964	T	C	63957964	2	2	32	1	0	0	0	0	0	0	0	1	13814	1722	60	3		3	RTKN2	10	63957964	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08		63957964	71576783	32	1916											
PTEN	5728	broad.mit.edu	37	chr10	89720827	89720831	+	Frame_Shift_Del	DEL	CAAAG	CAAAG	-																															ttaacaaaaaatgatcttgaCaaagcaaataaagacaaagc																										TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr10:89720827_89720831delCAAAG	uc001kfb.3	+	7	2010_2014	c.978_982delCAAAG	c.(976-984)gacaaagcafs	p.D326fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	326	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.D326G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D326fs*4(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)|p.L325H(1)|p.L325V(1)|p.L325P(1)|p.L325R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGATCTTGACAAAGCAAATAAAGA	0.337		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720831	CAAAG	-	89720827	7	5	32	1	0	1	0	1	0	0	0	0	12823	477	17	0	1008	0	PTEN	10	89720827	Frame_Shift_Del	DEL	CAAAG	TCGA-06-0168-01A-01D-1491-08	25762863	89720827	45813920	33	1917											
OR10A3	26496	broad.mit.edu	37	chr11	7960190	7960190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcttcatctcactgtttCgtaagctatagatgagcgga	9	14	8	10	2	3	2	2	1	2	1	6	3	4	3	1	1	2	3	1	1	3	5	rs146552050		TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:7960190C>T	uc010rbi.2	-	0	878	c.878G>A	c.(877-879)cGa>cAa	p.R293Q		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CTCACTGTTTCGTAAGCTATA	0.418													T	7960190	C	T	7960190	3	4	32	1	0	0	0	0	1	0	0	0	10967	884	31	1	69	1	OR10A3	11	7960190	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		7960190	127046326	34	1918											
OR8J3	81168	broad.mit.edu	37	chr11	55904831	55904831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttacaaatggccacatagcGgtcataggccatcacagcca	13	7	9	12	1	2	0	2	0	0	0	2	0	2	0	3	3	3	1	3	3	4	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:55904831G>A	uc010riz.2	-	0	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D121Y(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GCCACATAGCGGTCATAGGCC	0.502													A	55904831	G	A	55904831	3	1	32	1	0	0	0	0	1	0	0	0	11318	1116	39	1	585	1	OR8J3	11	55904831	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	47944641	55904831	79101685	35	1919											
OR5A1	219982	broad.mit.edu	37	chr11	59210873	59210873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgacatctgctactctTctgctgtggctcccaatatg	7	15	7	12	0	4	1	1	1	3	0	5	1	5	1	1	1	3	3	1	1	3	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:59210873T>C	uc001nnx.1	+	0	232	c.232T>C	c.(232-234)Tct>Cct	p.S78P		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTGCTACTCTTCTGCTGTGGC	0.468													C	59210873	T	C	59210873	3	2	32	1	0	0	0	0	1	0	0	0	11215	1783	62	3	234	3	OR5A1	11	59210873	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08	3306042	59210873	75795643	36	1920											
CDC42BPG	55561	broad.mit.edu	37	chr11	64607007	64607007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagccaggcgaatgtgcccGttcacatccagcaggacgtt	9	8	11	13	3	2	0	2	0	0	0	3	2	3	1	3	2	3	3	3	2	1	2	rs141134240	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:64607007G>A	uc001obs.4	-	5	618	c.618C>T	c.(616-618)aaC>aaT	p.N206N		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	206	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GAATGTGCCCGTTCACATCCA	0.607													A	64607007	G	A	64607007	2	1	32	1	0	0	0	0	0	0	0	1	3104	1136	40	1		1	CDC42BPG	11	64607007	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	5396134	64607007	70399509	37	1921											
UVRAG	7405	broad.mit.edu	37	chr11	75718654	75718654	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagctttcctacatttacCctattgatttggtaagtttc	8	18	6	9	0	0	2	0	2	0	0	2	2	1	2	2	1	3	3	2	1	4	9			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr11:75718654C>G	uc001oxc.3	+	9	1229	c.988C>G	c.(988-990)Cct>Gct	p.P330A	UVRAG_uc010rrw.2_Missense_Mutation_p.P229A|UVRAG_uc001oxd.3_5'UTR|UVRAG_uc010rrx.2_5'UTR|UVRAG_uc009yuh.1_Non-coding_Transcript	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	330					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTACATTTACCCTATTGATTT	0.318													G	75718654	C	G	75718654	3	3	32	1	0	0	0	0	1	0	0	0	17210	623	22	4	1026	4	UVRAG	11	75718654	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	11111647	75718654	59287862	38	1922											
SMAGP	57228	broad.mit.edu	37	chr12	51663060	51663060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagtagtcaggaggctggtCattgtcactagtggttgagt	8	12	16	5	0	3	1	3	1	0	0	3	3	3	3	0	5	0	3	0	5	2	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr12:51663060C>G	uc001ryd.1	-	1	193	c.3G>C	c.(1-3)atG>atC	p.M1I	SMAGP_uc001rye.1_Missense_Mutation_p.M1I|SMAGP_uc001ryf.1_Non-coding_Transcript	NM_001033873	NP_001029045	Q0VAQ4	SMAGP_HUMAN	Homo sapiens small cell adhesion glycoprotein (SMAGP), transcript variant 2, mRNA.	1						cytoplasmic vesicle membrane|integral to membrane|plasma membrane											GGAGGCTGGTCATTGTCACTA	0.512													G	51663060	C	G	51663060	3	3	32	1	0	0	0	0	1	0	0	0	14859	826	29	4	302	4	SMAGP	12	51663060	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		51663060	82188835	39	1923											
RNF17	56163	broad.mit.edu	37	chr13	25367336	25367336	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacctcctttgcaaccTgagacaaatgatgtacattt	12	11	5	13	0	0	2	0	2	0	1	1	3	1	2	5	0	3	2	5	0	3	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:25367336T>C	uc001upr.3	+	9	1133	c.1092T>C	c.(1090-1092)ccT>ccC	p.P364P	RNF17_uc010tdd.1_Silent_p.P223P|RNF17_uc010tde.2_Silent_p.P364P|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Silent_p.P303P|RNF17_uc001upq.1_Silent_p.P364P	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	364					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CTTTGCAACCTGAGACAAATG	0.428													C	25367336	T	C	25367336	2	2	32	1	0	0	0	0	0	0	0	1	13552	1567	55	3		3	RNF17	13	25367336	Silent	SNP	T	TCGA-06-0168-01A-01D-1491-08		25367336	89802542	40	1924											
TRPC4	7223	broad.mit.edu	37	chr13	38237609	38237609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttgcaggttaaccctttCgtttcttcataatagaagta	10	16	6	9	1	2	1	1	0	1	1	3	1	2	1	2	1	2	4	2	1	5	8			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:38237609C>T	uc010abx.3	-	5	1867	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	TRPC4_uc010abv.3_Silent_p.T124T|TRPC4_uc001uwt.3_Silent_p.T544T|TRPC4_uc001uws.3_Silent_p.T544T|TRPC4_uc010tey.2_Silent_p.T544T|TRPC4_uc010abw.3_Silent_p.T371T|TRPC4_uc010aby.3_Silent_p.T544T	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	544					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTAACCCTTTCGTTTCTTCAT	0.348													T	38237609	C	T	38237609	2	4	32	1	0	0	0	0	0	0	0	1	16681	871	31	1		1	TRPC4	13	38237609	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	12870273	38237609	76932269	41	1925											
COL4A1	1282	broad.mit.edu	37	chr13	110855947	110855947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaggacctgcttcacccTtttctccctacaaaagaaaa	13	9	6	13	0	2	1	1	0	1	1	3	3	2	3	3	2	2	1	3	2	5	4			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr13:110855947T>C	uc001vqw.4	-	17	1087	c.965A>G	c.(964-966)aAg>aGg	p.K322R		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	322	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TGCTTCACCCTTTTCTCCCTA	0.453													C	110855947	T	C	110855947	3	2	32	1	0	0	0	0	1	0	0	0	3720	1609	56	3	4184	3	COL4A1	13	110855947	Missense_Mutation	SNP	T	TCGA-06-0168-01A-01D-1491-08	72618338	110855947	4313931	42	1926											
MAP3K9	4293	broad.mit.edu	37	chr14	71209191	71209191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatgatgttgagctcccGttccaggatgtcaatctccc	8	12	10	11	1	2	3	1	3	1	0	5	5	4	4	3	1	1	3	3	1	1	2			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr14:71209191G>A	uc001xmm.3	-	5	1444	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W	MAP3K9_uc010ttk.2_Missense_Mutation_p.R219W|MAP3K9_uc001xmk.3_Missense_Mutation_p.R176W|MAP3K9_uc001xml.3_Missense_Mutation_p.R482W	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	482	Leucine-zipper 2.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TTGAGCTCCCGTTCCAGGATG	0.617													A	71209191	G	A	71209191	3	1	32	1	0	0	0	0	1	0	0	0	9332	1144	40	1	1944	1	MAP3K9	14	71209191	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08		71209191	36140349	43	1927											
EPB42	2038	broad.mit.edu	37	chr15	43499445	43499445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctcgcagcggtcactgcCcacacccttggtgctgatgt	5	10	11	15	2	1	1	1	1	0	0	3	1	2	1	3	2	3	2	3	2	0	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:43499445C>A	uc001zrb.4	-	8	1660	c.1360G>T	c.(1360-1362)Ggc>Tgc	p.G454C	EPB42_uc001zqz.4_Missense_Mutation_p.G91C|EPB42_uc001zra.4_Missense_Mutation_p.G424C|EPB42_uc010udm.2_Missense_Mutation_p.G346C	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	424					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CGGTCACTGCCCACACCCTTG	0.552													A	43499445	C	A	43499445	3	1	32	1	0	0	0	0	1	0	0	0	5199	623	22	4	825	4	EPB42	15	43499445	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08		43499445	59031947	44	1928											
SMAD3	4088	broad.mit.edu	37	chr15	67457245	67457245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcaggtccctggatggCcggttgcaggtgtcccatcg	4	9	15	13	2	0	0	0	0	0	0	3	1	2	1	4	6	1	3	4	6	0	1			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr15:67457245C>T	uc002aqj.3	+	1	517	c.219C>T	c.(217-219)ggC>ggT	p.G73G	SMAD3_uc010ujr.2_5'UTR|SMAD3_uc010ujs.2_Silent_p.G29G|SMAD3_uc010ujt.2_5'Flank	NM_005902	NP_001138576	P84022	SMAD3_HUMAN	Homo sapiens SMAD family member 3 (SMAD3), transcript variant 1, mRNA.	73	MH1.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CCCTGGATGGCCGGTTGCAGG	0.612													T	67457245	C	T	67457245	2	4	32	1	0	0	0	0	0	0	0	1	14853	726	26	2		2	SMAD3	15	67457245	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	23957800	67457245	35074147	45	1929											
CACNA1G	8913	broad.mit.edu	37	chr17	48697121	48697121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgatggacgagctGgcaggcccagggggccagcc	8	4	17	12	1	0	2	0	2	0	0	0	4	0	3	3	5	3	3	3	5	1	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr17:48697121G>A	uc002irk.1	+	33	6231	c.5859G>A	c.(5857-5859)ctG>ctA	p.L1953L	CACNA1G_uc002irj.1_Intron|CACNA1G_uc002irl.1_Intron|CACNA1G_uc002irm.1_Silent_p.L1919L|CACNA1G_uc002irn.1_Intron|CACNA1G_uc002iro.1_Intron|CACNA1G_uc002irp.1_Silent_p.L1953L|CACNA1G_uc002irq.1_Silent_p.L1930L|CACNA1G_uc002irr.1_Intron|CACNA1G_uc002irs.1_Silent_p.L1942L|CACNA1G_uc002irt.1_Intron|CACNA1G_uc002iru.1_Silent_p.L1919L|CACNA1G_uc002irv.1_Intron|CACNA1G_uc002irw.1_Intron|CACNA1G_uc002irx.1_Intron|CACNA1G_uc002iry.1_Intron|CACNA1G_uc002isg.1_Intron|CACNA1G_uc002ish.1_Intron|CACNA1G_uc002isi.1_Intron|CACNA1G_uc002irz.1_Intron|CACNA1G_uc002isa.1_Intron|CACNA1G_uc002isd.1_Intron|CACNA1G_uc002isb.1_Intron|CACNA1G_uc002isc.1_Silent_p.L1855L|CACNA1G_uc002ise.1_Silent_p.L1821L|CACNA1G_uc002isf.1_Silent_p.L1848L	NM_018896	NP_061496	O43497	CAC1G_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1G subunit (CACNA1G), transcript variant 1, mRNA.	1953					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGGACGAGCTGGCAGGCCCAG	0.667													A	48697121	G	A	48697121	2	1	32	1	0	0	0	0	0	0	0	1	2570	1335	47	2		2	CACNA1G	17	48697121	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		48697121	32498089	46	1930											
DNMT1	1786	broad.mit.edu	37	chr19	10254528	10254528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaagatctctttgatccgGccaattcggtagggctcagg	9	10	12	10	2	2	3	1	1	1	2	5	3	3	3	2	4	0	2	2	4	3	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:10254528G>A	uc002mng.3	-	27	3162	c.2982C>T	c.(2980-2982)ggC>ggT	p.G994G	DNMT1_uc002mnf.3_5'UTR|DNMT1_uc010xlc.2_Silent_p.G1010G|DNMT1_uc002mnh.3_Silent_p.G889G|DNMT1_uc010xld.2_Silent_p.G994G	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	994	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CTTTGATCCGGCCAATTCGGT	0.542													A	10254528	G	A	10254528	2	1	32	1	0	0	0	0	0	0	0	1	4714	1190	42	2		2	DNMT1	19	10254528	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08		10254528	48874455	47	1931											
CRLF1	9244	broad.mit.edu	37	chr19	18710416	18710416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaggatgctgccgtcaCgggcgtggcacacgaggttg	7	6	16	12	4	1	0	1	0	0	0	1	2	1	1	2	4	3	3	2	4	0	1	rs146027258	byFrequency	TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:18710416C>T	uc010ebt.2	-	1	550	c.356G>A	c.(355-357)cGt>cAt	p.R119H		NM_004750	NP_004741	O75462	CRLF1_HUMAN	Homo sapiens cytokine receptor-like factor 1 (CRLF1), mRNA.	119	Ig-like C2-type.				negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity	p.R119H(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						GCTGCCGTCACGGGCGTGGCA	0.652													T	18710416	C	T	18710416	3	4	32	1	0	0	0	0	1	0	0	0	3917	536	19	1	944	1	CRLF1	19	18710416	Missense_Mutation	SNP	C	TCGA-06-0168-01A-01D-1491-08	8455888	18710416	40418567	48	1932											
FOSB	2354	broad.mit.edu	37	chr19	45973902	45973902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggagtgcgccggtctcGgggaaatgcccggttccttc	5	9	15	12	5	1	0	0	0	1	0	4	2	2	2	3	5	2	2	3	5	2	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:45973902G>A	uc002pbx.4	+	1	734	c.142G>A	c.(142-144)Ggg>Agg	p.G48R	ERCC1_uc002pbu.2_Intron|FOSB_uc002pbw.3_Missense_Mutation_p.G48R|FOSB_uc010eka.1_Intron|FOSB_uc010ekb.1_Missense_Mutation_p.G48R|FOSB_uc010ekc.1_Intron|FOSB_uc010ekd.1_Missense_Mutation_p.G48R|FOSB_uc010eke.3_Intron|FOSB_uc002pby.4_Missense_Mutation_p.G48R|FOSB_uc010ekf.3_Intron|FOSB_uc010ekg.3_Intron|FOSB_uc002pca.4_5'UTR	NM_006732	NP_006723	P53539	FOSB_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog B (FOSB), transcript variant 1, mRNA.	48					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		CGCCGGTCTCGGGGAAATGCC	0.582													A	45973902	G	A	45973902	3	1	32	1	0	0	0	0	1	0	0	0	6035	1116	39	1	148	1	FOSB	19	45973902	Missense_Mutation	SNP	G	TCGA-06-0168-01A-01D-1491-08	27263486	45973902	13155081	49	1933											
PNMAL2	57469	broad.mit.edu	37	chr19	46997949	46997949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcgatttgtcggtgacGgtgaccagagccaagaactc	9	11	11	10	3	1	4	0	2	1	2	4	5	1	4	2	2	2	0	2	2	2	3			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:46997949G>A	uc002pes.2	-	0	1221	c.774C>T	c.(772-774)acC>acT	p.T258T	LOC100506012_uc021uwg.1_Intron|BC132841_uc002peu.1_Silent_p.T20T	NM_020709	NP_065760	Q9ULN7	PNML2_HUMAN	Homo sapiens PNMA-like 2 (PNMAL2), mRNA.	258										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		TGTCGGTGACGGTGACCAGAG	0.602													A	46997949	G	A	46997949	2	1	32	1	0	0	0	0	0	0	0	1	12235	1103	39	1		1	PNMAL2	19	46997949	Silent	SNP	G	TCGA-06-0168-01A-01D-1491-08	1024047	46997949	12131034	50	1934											
DHX34	9704	broad.mit.edu	37	chr19	47883014	47883014	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaccaatggtgactgctcCcgcctggtggccgatggctg	6	8	14	13	2	0	1	0	1	0	0	1	3	1	1	4	4	1	2	4	4	1	0			TCGA-06-0168-01A-01D-1491-08	TCGA-06-0168-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2b3bab1e-dddd-4c2c-b5ec-7bb6e700e070	5901ecf0-7e6a-410c-b491-ae958d77f1f3	g.chr19:47883014C>T	uc010xyn.2	+	13	3103	c.2754C>T	c.(2752-2754)tcC>tcT	p.S918S	DHX34_uc010xyo.1_Silent_p.S47S	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	918						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GTGACTGCTCCCGCCTGGTGG	0.627													T	47883014	C	T	47883014	2	4	32	1	0	0	0	0	0	0	0	1	4546	610	22	2		2	DHX34	19	47883014	Silent	SNP	C	TCGA-06-0168-01A-01D-1491-08	885065	47883014	11245969	51	1935											
PRAMEF12	390999	broad.mit.edu	37	chr1	12836029	12836029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccaggaggtggaagtgTgctgcccgtgggagctgtcc	6	9	17	9	1	0	0	0	0	0	0	2	3	2	3	3	4	3	3	3	4	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:12836029T>C	uc001aui.3	+	1	658	c.631T>C	c.(631-633)Tgc>Cgc	p.C211R		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGGAAGTGTGCTGCCCGTG	0.517													C	12836029	T	C	12836029	3	2	33	1	0	0	0	0	1	0	0	0	12510	1696	59	3	637	3	PRAMEF12	1	12836029	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		12836029	236414592	1	1936											
SGIP1	84251	broad.mit.edu	37	chr1	67133216	67133216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgctgatcacagaggCgcagcccggtaagaactctc	9	10	10	12	2	2	3	1	1	1	2	3	3	2	3	1	2	3	3	1	2	2	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:67133216C>T	uc001dcr.3	+	8	692	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SGIP1_uc010opd.2_5'UTR|SGIP1_uc001dcs.3_Intron|SGIP1_uc001dct.3_Intron|AK298300_uc010ope.1_Intron	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	159					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						ATCACAGAGGCGCAGCCCGGT	0.418													T	67133216	C	T	67133216	3	4	33	1	0	0	0	0	1	0	0	0	14299	768	27	1	509	1	SGIP1	1	67133216	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	54297187	67133216	182117405	2	1937											
GBP1	2633	broad.mit.edu	37	chr1	89521850	89521850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagtaaagctgagcaaCgatctgatgatgcttcctga	12	10	10	9	1	1	5	0	5	1	0	2	6	2	5	2	0	4	4	2	0	4	2	rs140785577		TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:89521850C>T	uc001dmx.2	-	7	1437	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	406					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		AGCTGAGCAACGATCTGATGA	0.408													T	89521850	C	T	89521850	3	4	33	1	0	0	0	0	1	0	0	0	6327	536	19	1	577	1	GBP1	1	89521850	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	22388634	89521850	159728771	3	1938											
HRNR	388697	broad.mit.edu	37	chr1	152188002	152188002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggaagactgacctgagcTagctccatgttggccacagc	9	8	12	12	0	0	3	0	2	0	1	1	4	1	4	3	2	3	4	3	2	2	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:152188002T>C	uc001ezt.1	-	2	6179	c.6103A>G	c.(6103-6105)Agc>Ggc	p.S2035G		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2035					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCTGAGCTAGCTCCATGT	0.567													C	152188002	T	C	152188002	3	2	33	1	0	0	0	0	1	0	0	0	7414	1522	53	3	2453	3	HRNR	1	152188002	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	62666152	152188002	97062619	4	1939											
BCAN	63827	broad.mit.edu	37	chr1	156617796	156617796	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccatccagaccccacgAgaggcctgttacggagacat	11	7	9	14	2	0	3	0	0	0	3	2	5	2	3	5	2	1	1	5	2	2	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:156617796A>G	uc001fpp.3	+	4	999	c.663A>G	c.(661-663)cgA>cgG	p.R221R	BCAN_uc001fpo.3_Silent_p.R221R	NM_021948	NP_068767	Q96GW7	PGCB_HUMAN	Homo sapiens brevican (BCAN), transcript variant 1, mRNA.	221	Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGACCCCACGAGAGGCCTGTT	0.532													G	156617796	A	G	156617796	2	3	33	1	0	0	0	0	0	0	0	1	1350	291	11	3		3	BCAN	1	156617796	Silent	SNP	A	TCGA-06-0169-01A-01D-1490-08	4429794	156617796	92632825	5	1940											
PYHIN1	149628	broad.mit.edu	37	chr1	158914718	158914718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaggagcatggcactaccCcaggaacagagtcagcatcc	12	5	10	14	0	1	1	1	0	0	1	3	3	3	3	4	3	4	3	4	3	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:158914718C>A	uc001ftb.3	+	6	1495	c.1245C>A	c.(1243-1245)ccC>ccA	p.P415P	PYHIN1_uc001ftc.3_Silent_p.P406P|PYHIN1_uc001ftd.3_Silent_p.P415P|PYHIN1_uc001fte.3_Silent_p.P406P	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	415					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					TGGCACTACCCCAGGAACAGA	0.433													A	158914718	C	A	158914718	2	1	33	1	0	0	0	0	0	0	0	1	12953	610	22	4		4	PYHIN1	1	158914718	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	2296922	158914718	90335903	6	1941											
OR2T6	254879	broad.mit.edu	37	chr1	248551593	248551593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcacagtgcatcagatGacatcggctgaagggaggaa	13	7	12	9	1	3	3	3	2	0	1	4	5	3	5	0	3	1	2	0	3	2	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr1:248551593G>T	uc001iei.1	+	0	684	c.684G>T	c.(682-684)atG>atT	p.M228I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M228I(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCATCAGATGACATCGGCTG	0.502													T	248551593	G	T	248551593	3	4	33	1	0	0	0	0	1	0	0	0	11105	1290	45	4	686	4	OR2T6	1	248551593	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	89636875	248551593	699028	7	1942											
ANKRD53	79998	broad.mit.edu	37	chr2	71209104	71209104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgcccctgcacctggcagCccgtgacggcttgctggact	5	7	12	17	3	0	1	0	1	0	0	0	2	0	2	4	3	3	4	4	3	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71209104C>T	uc002shl.4	+	3	857	c.656C>T	c.(655-657)gCc>gTc	p.A219V	ANKRD53_uc002shk.4_Missense_Mutation_p.A219V	NM_001115116	NP_001108588	Q8N9V6	ANR53_HUMAN	Homo sapiens ankyrin repeat domain 53 (ANKRD53), transcript variant 1, mRNA.	219										endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	11						CACCTGGCAGCCCGTGACGGC	0.577													T	71209104	C	T	71209104	3	4	33	1	0	0	0	0	1	0	0	0	679	739	26	2	670	2	ANKRD53	2	71209104	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		71209104	171990269	8	1943											
DYSF	8291	broad.mit.edu	37	chr2	71871138	71871138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcaaattctttgcctccaTaggggagagggaaaagtgcg	12	8	14	7	1	1	1	0	0	1	1	2	4	2	2	2	3	3	1	2	3	4	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:71871138T>C	uc010fen.3	+	41	4712	c.4571T>C	c.(4570-4572)aTa>aCa	p.I1524T	DYSF_uc010fei.3_Missense_Mutation_p.I1502T|DYSF_uc010feh.3_Missense_Mutation_p.I1492T|DYSF_uc002sig.4_Missense_Mutation_p.I1471T|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.I1516T|DYSF_uc010fee.3_Missense_Mutation_p.I1506T|DYSF_uc010fef.3_Missense_Mutation_p.I1523T|DYSF_uc002sie.3_Missense_Mutation_p.I1485T|DYSF_uc010feo.3_Missense_Mutation_p.I1517T|DYSF_uc010fej.3_Missense_Mutation_p.I1493T|DYSF_uc010fel.3_Missense_Mutation_p.I1472T|DYSF_uc010fem.3_Missense_Mutation_p.I1507T|DYSF_uc002sif.3_Missense_Mutation_p.I1486T|DYSF_uc010fek.3_Missense_Mutation_p.I1503T|DYSF_uc010yqy.2_Missense_Mutation_p.I366T|DYSF_uc010yqz.2_Missense_Mutation_p.I246T	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1485						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTTGCCTCCATAGGGGAGAGG	0.502													C	71871138	T	C	71871138	3	2	33	1	0	0	0	0	1	0	0	0	4898	1406	49	3	4875	3	DYSF	2	71871138	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	662034	71871138	171328235	9	1944											
FAM123C	205147	broad.mit.edu	37	chr2	131521578	131521578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccctgctcccagaaggagCctgggccaccaggggtcctg	6	5	15	15	0	0	1	0	0	0	1	2	2	2	2	6	5	2	1	6	5	1	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:131521578C>T	uc021voy.1	+	0	1933	c.1933C>T	c.(1933-1935)Cct>Tct	p.P645S	FAM123C_uc002trw.2_Missense_Mutation_p.P645S|FAM123C_uc010fmv.2_Missense_Mutation_p.P645S|FAM123C_uc010fms.1_Missense_Mutation_p.P645S|FAM123C_uc010fmt.1_Missense_Mutation_p.P645S|FAM123C_uc010fmu.1_Missense_Mutation_p.P645S	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	645										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGAAGGAGCCTGGGCCACC	0.602													T	131521578	C	T	131521578	3	4	33	1	0	0	0	0	1	0	0	0	5469	739	26	2	1935	2	FAM123C	2	131521578	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	59650440	131521578	111677795	10	1945											
SCN9A	6335	broad.mit.edu	37	chr2	167085307	167085307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggcaaaacattcggaaCgatttggaacttgacttgca	14	10	10	7	2	0	1	0	1	0	0	1	4	0	3	0	3	4	2	0	3	5	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:167085307C>T	uc010fpl.3	-	21	4408	c.4067G>A	c.(4066-4068)cGt>cAt	p.R1356H	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1367						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1356H(2)|p.R1356L(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACATTCGGAACGATTTGGAAC	0.398													T	167085307	C	T	167085307	3	4	33	1	0	0	0	0	1	0	0	0	14018	536	19	1	1890	1	SCN9A	2	167085307	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	35563729	167085307	76114066	11	1946											
HDLBP	3069	broad.mit.edu	37	chr2	242173290	242173290	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtcatgctccaaccggAtttgggtaattactgccccc	8	11	8	14	2	2	0	2	0	0	0	3	1	3	1	4	2	4	2	4	2	3	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr2:242173290A>G	uc002waz.3	-	23	3406	c.3233T>C	c.(3232-3234)aTc>aCc	p.I1078T	HDLBP_uc002wba.3_Missense_Mutation_p.I1078T|HDLBP_uc021vzg.1_Missense_Mutation_p.I1045T	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	1078	KH 13.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CTCCAACCGGATTTGGGTAAT	0.498													G	242173290	A	G	242173290	3	3	33	1	0	0	0	0	1	0	0	0	7080	333	12	3	593	3	HDLBP	2	242173290	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	75087983	242173290	1026083	12	1947											
CCK	885	broad.mit.edu	37	chr3	42305011	42305011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagctgcctacggggcgcctCctctgcccgctgcagcccgg	3	6	13	19	4	1	0	0	0	1	0	2	0	2	0	5	3	6	3	5	3	1	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:42305011C>T	uc021wwk.1	-	1	239	c.112G>A	c.(112-114)Gag>Aag	p.E38K	CCK_uc003cld.1_Missense_Mutation_p.E38K|CCK_uc011azk.1_Missense_Mutation_p.E38K	NM_001174138	NP_001167609	P06307	CCKN_HUMAN	Homo sapiens cholecystokinin (CCK), transcript variant 2, mRNA.	38					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity	p.E38K(2)		central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CGGGGCGCCTCCTCTGCCCGC	0.711													T	42305011	C	T	42305011	3	4	33	1	0	0	0	0	1	0	0	0	2907	864	30	2	243	2	CCK	3	42305011	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		42305011	155717419	13	1948											
MANF	7873	broad.mit.edu	37	chr3	51425306	51425306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagatatgtgagcttaagTatggtgagtatgcctagtcc	10	12	12	7	0	0	3	0	2	0	1	1	3	1	3	3	1	2	3	3	1	5	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr3:51425306T>C	uc003dbc.3	+	2	443	c.361T>C	c.(361-363)Tat>Cat	p.Y121H		NM_006010	NP_006001	P55145	MANF_HUMAN	Homo sapiens mesencephalic astrocyte-derived neurotrophic factor (MANF), mRNA.	121					response to unfolded protein	extracellular region	growth factor activity			lung(1)|ovary(1)	2						TGAGCTTAAGTATGGTGAGTA	0.458													C	51425306	T	C	51425306	3	2	33	1	0	0	0	0	1	0	0	0	9298	1638	57	3	380	3	MANF	3	51425306	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	9120295	51425306	146597124	14	1949											
DKK2	27123	broad.mit.edu	37	chr4	107847047	107847047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgcaggccgatgatccttgGtggggactgtggcaatacct	8	10	14	9	1	0	1	0	1	0	0	1	3	1	2	3	5	2	2	3	5	2	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:107847047G>T	uc003hyi.3	-	1	987	c.282C>A	c.(280-282)caC>caA	p.H94Q	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.H94Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	94	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		ATGATCCTTGGTGGGGACTGT	0.502													T	107847047	G	T	107847047	3	4	33	1	0	0	0	0	1	0	0	0	4584	1252	44	4	509	4	DKK2	4	107847047	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		107847047	83307229	15	1950											
DCHS2	54798	broad.mit.edu	37	chr4	155305544	155305544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttccttcactggttttgcGttctcttcctggcttctgaa	3	19	8	11	1	3	1	1	1	2	0	6	1	5	1	2	2	1	4	2	2	1	7			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:155305544G>A	uc003inw.2	-	1	210	c.210C>T	c.(208-210)aaC>aaT	p.N70N	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	70	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ctggttttgcgttctcttcct	0.507													A	155305544	G	A	155305544	2	1	33	1	0	0	0	0	0	0	0	1	4322	1136	40	1		1	DCHS2	4	155305544	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	47458497	155305544	35848732	16	1951											
ODZ3	55714	broad.mit.edu	37	chr4	183713527	183713527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccagtgtggctcgccacaCcatgcagaccatccgatcca	9	6	9	17	2	0	1	0	0	0	1	3	2	2	1	6	1	1	2	6	1	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr4:183713527C>T	uc003ivd.1	+	24	5777	c.5702C>T	c.(5701-5703)aCc>aTc	p.T1901I		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1901					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		GCTCGCCACACCATGCAGACC	0.547													T	183713527	C	T	183713527	3	4	33	1	0	0	0	0	1	0	0	0	10912	507	18	2	5800	2	ODZ3	4	183713527	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	28407983	183713527	7440749	17	1952											
GPR98	84059	broad.mit.edu	37	chr5	89969926	89969926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttaatgagtatttccGtgtgacattggtttctgcaa	10	16	9	6	1	1	3	0	3	1	0	2	3	2	3	1	1	2	3	1	1	4	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:89969926G>A	uc003kju.3	+	22	5081	c.4985G>A	c.(4984-4986)cGt>cAt	p.R1662H	GPR98_uc003kjt.3_5'UTR|GPR98_uc010jba.2_Non-coding_Transcript	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1662	Calx-beta 11.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.R1662H(2)		NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGTATTTCCGTGTGACATTG	0.393													A	89969926	G	A	89969926	3	1	33	1	0	0	0	0	1	0	0	0	6776	1145	40	1	5075	1	GPR98	5	89969926	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		89969926	90945334	18	1953											
PCDHB9	56127	broad.mit.edu	37	chr5	140568233	140568233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgacgtcaatgacaacGcccccgccttcacccaaacc	10	6	5	20	4	3	1	2	1	1	0	4	2	3	1	6	0	2	0	6	0	3	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:140568233G>A	uc003liw.1	+	1	1339	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T		NM_019119	NP_061992	Q9Y5E1	PCDB9_HUMAN	Homo sapiens protocadherin beta 9 (PCDHB9), mRNA.	448	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding							KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAATGACAACGCCCCCGCCTT	0.592													A	140568233	G	A	140568233	3	1	33	1	0	0	0	0	1	0	0	0	11625	1074	38	1	1343	1	PCDHB9	5	140568233	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	50598307	140568233	40347027	19	1954											
FAT2	2196	broad.mit.edu	37	chr5	150923883	150923883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caattgggaaaaagtgggagGgttatcattgacatcctcca	13	10	11	7	0	1	1	1	1	0	0	3	3	3	3	2	3	0	1	2	3	4	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:150923883G>T	uc003lue.4	-	8	6818	c.6805C>A	c.(6805-6807)Cct>Act	p.P2269T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2269	Cadherin 19.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGTGGGAGGGTTATCATTG	0.502													T	150923883	G	T	150923883	3	4	33	1	0	0	0	0	1	0	0	0	5739	1232	43	4	6304	4	FAT2	5	150923883	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	10355650	150923883	29991377	20	1955											
FAM71B	153745	broad.mit.edu	37	chr5	156592924	156592924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgggccagaaccatgaCgtcaggcagtgggaggatgg	9	7	18	7	1	1	2	1	1	0	1	1	4	1	4	2	6	1	2	2	6	1	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr5:156592924C>T	uc003lwn.3	-	0	356	c.256G>A	c.(256-258)Gtc>Atc	p.V86I		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	86						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAACCATGACGTCAGGCAGT	0.542													T	156592924	C	T	156592924	3	4	33	1	0	0	0	0	1	0	0	0	5658	536	19	1	1569	1	FAM71B	5	156592924	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	5669041	156592924	24322336	21	1956											
HLA-C	3106	broad.mit.edu	37	chr6	31322411	31322411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacccccaccacttacaCgcagcctgagagtagctccc	9	6	6	20	1	0	1	0	1	0	1	2	2	2	1	6	0	3	3	6	0	2	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:31322411C>T	uc003nth.2	-	6	1099	c.1045_splice	c.e6+1	p.C349_splice	HLA-C_uc003ntf.2_Intron|HLA-C_uc003ntg.1_Splice_Site_p.C228_splice|HLA-C_uc003nti.1_Splice_Site	NM_005514	NP_005505	Q9TNN7	1C05_HUMAN	Homo sapiens major histocompatibility complex, class I, B (HLA-B), mRNA.	350					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						ACCACTTACACGCAGCCTGAG	0.572													T	31322411	C	T	31322411	2	4	33	1	0	0	0	0	0	0	0	1	7252	550	19	1		1	HLA-C	6	31322411	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08		31322411	139792656	22	1957											
TRAM2	9697	broad.mit.edu	37	chr6	52370483	52370483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagccaatggccagcacGgcaagggtgaggatgaagag	14	3	15	9	1	0	3	0	2	0	1	0	4	0	4	3	4	2	2	3	4	4	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:52370483G>A	uc003paq.3	-	8	938	c.789C>T	c.(787-789)gcC>gcT	p.A263A	EFHC1_uc011dwv.1_Intron|TRAM2_uc003par.1_Non-coding_Transcript	NM_012288	NP_036420	Q15035	TRAM2_HUMAN	Homo sapiens translocation associated membrane protein 2 (TRAM2), mRNA.	263	TLC.				collagen biosynthetic process|protein transport|transmembrane transport	integral to membrane	protein binding			endometrium(3)|large_intestine(1)|lung(7)|prostate(1)|skin(1)	13	Lung NSC(77;0.109)					TGGCCAGCACGGCAAGGGTGA	0.542													A	52370483	G	A	52370483	2	1	33	1	0	0	0	0	0	0	0	1	16554	1103	39	1		1	TRAM2	6	52370483	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	21048072	52370483	118744584	23	1958											
TCP10	6953	broad.mit.edu	37	chr6	167790118	167790118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtcttgacgtctcccGggaggacttttctctctatc	4	16	8	13	2	5	1	0	1	5	0	8	3	5	3	1	2	0	0	1	2	1	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr6:167790118G>A	uc003qvv.1	-	4	704	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TCP10_uc003qvu.3_Silent_p.P164P|TCP10_uc003qvw.3_Silent_p.P140P	NM_004610	NP_004601	Q12799	TCP10_HUMAN	Homo sapiens t-complex 10 homolog (mouse) (TCP10), mRNA.	191						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		GACGTCTCCCGGGAGGACTTT	0.493													A	167790118	G	A	167790118	2	1	33	1	0	0	0	0	0	0	0	1	15810	1103	39	1		1	TCP10	6	167790118	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	115419635	167790118	3324949	24	1959											
NXPH1	30010	broad.mit.edu	37	chr7	8791118	8791118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcgtggaatttgacttgGcacaacaaaccgtgattgat	14	11	9	7	2	0	3	0	3	0	0	1	4	0	4	1	2	2	1	1	2	4	3	rs145299363	by1000genomes	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:8791118G>C	uc003srv.3	+	2	1446	c.535G>C	c.(535-537)Gca>Cca	p.A179P	NXPH1_uc011jxh.2_Missense_Mutation_p.A62P	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	179	IV (linker domain).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ATTTGACTTGGCACAACAAAC	0.398													C	8791118	G	C	8791118	3	2	33	1	0	0	0	0	1	0	0	0	10866	1203	42	4	541	4	NXPH1	7	8791118	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		8791118	150347545	25	1960											
THSD7A	221981	broad.mit.edu	37	chr7	11422186	11422186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctttgacaccacactGttcgggaagagcccttccaa	10	9	8	14	1	0	3	0	2	0	1	2	4	1	4	4	1	1	1	4	1	2	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:11422186G>A	uc021zzo.1	-	23	4721	c.4469C>T	c.(4468-4470)aCa>aTa	p.T1490I	THSD7A_uc021zzn.1_Missense_Mutation_p.T1488I|BC040327_uc003ssb.3_Intron|THSD7A_uc003ssd.4_5'Flank	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	1490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		ACACCACACTGTTCGGGAAGA	0.418										HNSCC(18;0.044)			A	11422186	G	A	11422186	3	1	33	1	0	0	0	0	1	0	0	0	15979	1377	48	2	524	2	THSD7A	7	11422186	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	2631068	11422186	147716477	26	1961											
DNAH11	8701	broad.mit.edu	37	chr7	21599234	21599234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtaggccaccgtcaaacGaaaggataatacttcatgca	14	10	8	9	2	2	0	2	0	0	0	2	2	2	1	2	2	3	2	2	2	5	5			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:21599234G>A	uc003svc.3	+	3	737	c.706G>A	c.(706-708)Gaa>Aaa	p.E236K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	236	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACCGTCAAACGAAAGGATAAT	0.313									Kartagener syndrome				A	21599234	G	A	21599234	3	1	33	1	0	0	0	0	1	0	0	0	4638	1059	37	1	720	1	DNAH11	7	21599234	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	10177048	21599234	137539429	27	1962											
GRB10	2887	broad.mit.edu	37	chr7	50742172	50742172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgggagcgctgcaccCtctgcctcggggacacctgt	5	7	14	15	2	1	0	0	0	1	0	2	2	1	2	3	4	3	3	3	4	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:50742172C>G	uc003tpi.2	-	2	369	c.323G>C	c.(322-324)aGg>aCg	p.R108T	GRB10_uc003tph.3_Missense_Mutation_p.R50T|GRB10_uc003tpj.2_Missense_Mutation_p.R108T|GRB10_uc003tpk.2_Missense_Mutation_p.R108T|GRB10_uc010kzb.2_Missense_Mutation_p.R50T|GRB10_uc003tpl.2_Missense_Mutation_p.R102T|GRB10_uc003tpm.2_Missense_Mutation_p.R50T	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	108					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCGCTGCACCCTCTGCCTCGG	0.657									Russell-Silver syndrome				G	50742172	C	G	50742172	3	3	33	1	0	0	0	0	1	0	0	0	6811	681	24	4	1517	4	GRB10	7	50742172	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	29142938	50742172	108396491	28	1963											
PCLO	27445	broad.mit.edu	37	chr7	82763793	82763793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaataggtggtggcttttTttctgtttctgttcttttta	4	24	8	5	0	3	0	0	0	3	0	3	0	3	0	0	3	0	3	0	3	3	10			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:82763793T>C	uc003uhx.2	-	2	3362	c.3073A>G	c.(3073-3075)Aaa>Gaa	p.K1025E	PCLO_uc003uhv.2_Missense_Mutation_p.K1025E	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	971					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTGGCTTTTTTTCTGTTTCT	0.408													C	82763793	T	C	82763793	3	2	33	1	0	0	0	0	1	0	0	0	11659	1850	64	3	12464	3	PCLO	7	82763793	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	32021621	82763793	76374870	29	1964											
RELN	5649	broad.mit.edu	37	chr7	103270455	103270455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccagagactgagtgacCtccacaagattggtaaagtc	14	8	9	10	0	0	4	0	2	0	2	3	5	2	4	3	1	0	1	3	1	4	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:103270455C>T	uc022ajr.1	-	19	2794	c.2634G>A	c.(2632-2634)gaG>gaA	p.E878E	RELN_uc022ajq.1_Silent_p.E878E|RELN_uc010liz.3_Silent_p.E878E	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	878					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGAGTGACCTCCACAAGAT	0.408													T	103270455	C	T	103270455	2	4	33	1	0	0	0	0	0	0	0	1	13308	680	24	2		2	RELN	7	103270455	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	20506662	103270455	55868208	30	1965											
TAS2R39	259285	broad.mit.edu	37	chr7	142881262	142881262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatgccacagggtccaacGaccccagcatggaggctcac	11	4	11	15	1	1	0	1	0	0	0	2	2	2	1	4	3	3	3	4	3	2	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:142881262G>A	uc011ksw.2	+	0	751	c.751G>A	c.(751-753)Gac>Aac	p.D251N		NM_176881	NP_795362	P59534	T2R39_HUMAN	Homo sapiens taste receptor, type 2, member 39 (TAS2R39), mRNA.	251					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	Melanoma(164;0.059)					AGGGTCCAACGACCCCAGCAT	0.498													A	142881262	G	A	142881262	3	1	33	1	0	0	0	0	1	0	0	0	15673	1058	37	1	753	1	TAS2R39	7	142881262	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	39610807	142881262	16257401	31	1966											
OR2A5	393046	broad.mit.edu	37	chr7	143748162	143748162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctactcgcgcatcctggCggccatcttgaggatccagt	6	10	10	15	3	1	1	0	1	1	0	5	2	4	2	4	3	1	1	4	3	1	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr7:143748162C>T	uc011ktw.2	+	0	668	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A223V(2)		cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CGCATCCTGGCGGCCATCTTG	0.607													T	143748162	C	T	143748162	3	4	33	1	0	0	0	0	1	0	0	0	11057	768	27	1	670	1	OR2A5	7	143748162	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	866900	143748162	15390501	32	1967											
TEX15	56154	broad.mit.edu	37	chr8	30695500	30695500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatttcaaccttttttggcGttaaatgatttcttttcaga	9	19	6	7	1	3	2	2	1	1	1	3	2	3	2	1	1	1	2	1	1	3	8			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:30695500G>A	uc003xil.3	-	2	7151	c.7151C>T	c.(7150-7152)aCg>aTg	p.T2384M		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2384										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CTTTTTTGGCGTTAAATGATT	0.388													A	30695500	G	A	30695500	3	1	33	1	0	0	0	0	1	0	0	0	15879	1145	40	1	1226	1	TEX15	8	30695500	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08		30695500	115668522	33	1968											
ADAM18	8749	broad.mit.edu	37	chr8	39502901	39502901	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcggttattatagcTcaactgcttggccttaatgt	8	17	9	7	1	1	0	1	0	0	0	2	1	1	1	1	3	3	3	1	3	5	7			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:39502901T>C	uc003xni.3	+	10	1009	c.954T>C	c.(952-954)gcT>gcC	p.A318A	ADAM18_uc010lww.3_Non-coding_Transcript|ADAM18_uc010lwx.3_Silent_p.A294A	NM_014237	NP_055052	Q9Y3Q7	ADA18_HUMAN	Homo sapiens ADAM metallopeptidase domain 18 (ADAM18), transcript variant 1, mRNA.	318	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TTATTATAGCTCAACTGCTTG	0.333													C	39502901	T	C	39502901	2	2	33	1	0	0	0	0	0	0	0	1	239	1538	54	3		3	ADAM18	8	39502901	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08	8807401	39502901	106861121	34	1969											
IL7	3574	broad.mit.edu	37	chr8	79710323	79710323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataccaataattgatcgatgCtgaccattagaacactctca	15	11	5	10	1	1	3	1	2	1	1	3	4	1	3	2	0	3	1	2	0	5	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:79710323C>T	uc003ybg.3	-	1	732	c.131G>A	c.(130-132)aGc>aAc	p.S44N	IL7_uc022awh.1_Missense_Mutation_p.S44N|IL7_uc022awi.1_Missense_Mutation_p.S44N|IL7_uc022awj.1_Missense_Mutation_p.S44N|IL7_uc003ybh.3_Intron|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	44					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TTGATCGATGCTGACCATTAG	0.353													T	79710323	C	T	79710323	3	4	33	1	0	0	0	0	1	0	0	0	7762	797	28	2	422	2	IL7	8	79710323	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	40207422	79710323	66653699	35	1970											
GPR20	2843	broad.mit.edu	37	chr8	142366995	142366995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagggcgtgagggccGgcactgaggatgtgatgacg	7	7	21	6	3	0	5	0	5	0	0	0	6	0	6	1	5	0	1	1	5	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr8:142366995G>A	uc022bby.1	-	0	1029	c.1029C>T	c.(1027-1029)gcC>gcT	p.A343A	GPR20_uc003ywf.3_Silent_p.A343A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	343						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGTGAGGGCCGGCACTGAGGA	0.667													A	142366995	G	A	142366995	2	1	33	1	0	0	0	0	0	0	0	1	6734	1103	39	1		1	GPR20	8	142366995	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	62656672	142366995	3997027	36	1971											
C9orf131	138724	broad.mit.edu	37	chr9	35045456	35045456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcctcatcctcagccaaaAagagagagcaccctaggaaa	16	4	8	13	0	2	2	2	0	0	2	3	4	3	3	4	1	3	1	4	1	4	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:35045456A>G	uc003zvw.3	+	1	2859	c.2830A>G	c.(2830-2832)Aag>Gag	p.K944E	C9orf131_uc003zvu.3_Missense_Mutation_p.K896E|C9orf131_uc003zvv.3_Missense_Mutation_p.K871E|C9orf131_uc003zvx.3_Missense_Mutation_p.K909E	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	944										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTCAGCCAAAAAGAGAGAGCA	0.532													G	35045456	A	G	35045456	3	3	33	1	0	0	0	0	1	0	0	0	2483	15	1	3	2852	3	C9orf131	9	35045456	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08		35045456	106167975	37	1972											
COL15A1	1306	broad.mit.edu	37	chr9	101797331	101797331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttacctggacccccGgggaaaaagggacaagctgg	12	4	15	10	1	0	1	0	0	0	1	0	4	0	4	3	6	2	2	3	6	4	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr9:101797331G>A	uc004azb.1	+	17	2321	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	705	Triple-helical region 2 (COL2).		P -> L (in dbSNP:rs41308900).		angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CTGGACCCCCGGGGAAAAAGG	0.612													A	101797331	G	A	101797331	2	1	33	1	0	0	0	0	0	0	0	1	3703	1103	39	1		1	COL15A1	9	101797331	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	66751875	101797331	39416100	38	1973											
ANO9	338440	broad.mit.edu	37	chr11	420522	420522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaccatcttgatggcgTccaggcggatctccacgagg	9	7	12	13	3	2	2	0	1	2	1	4	4	3	3	4	4	0	0	4	4	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:420522T>C	uc001lpi.2	-	18	1812	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	ANO9_uc001lph.2_Missense_Mutation_p.D269G|ANO9_uc010qvv.1_Missense_Mutation_p.D432G	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	576						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTTGATGGCGTCCAGGCGGAT	0.687													C	420522	T	C	420522	3	2	33	1	0	0	0	0	1	0	0	0	704	1667	58	3	641	3	ANO9	11	420522	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		420522	134585994	39	1974											
OR51L1	119682	broad.mit.edu	37	chr11	5020398	5020398	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctccatcagcccatgtaTtactttatttccatcttagc	8	17	3	13	0	3	0	1	0	2	0	6	0	5	0	3	0	3	1	3	0	4	6			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:5020398T>C	uc010qyu.2	+	0	186	c.186T>C	c.(184-186)taT>taC	p.Y62Y		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCCATGTATTACTTTATTT	0.448													C	5020398	T	C	5020398	2	2	33	1	0	0	0	0	0	0	0	1	11178	1500	52	3		3	OR51L1	11	5020398	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08	4599876	5020398	129986118	40	1975											
LYVE1	10894	broad.mit.edu	37	chr11	10580685	10580685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttccaggcatcgcacGgtagttttgcttggactctt	6	14	10	11	2	2	0	1	0	1	0	4	1	3	1	1	3	2	6	1	3	1	6			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:10580685G>A	uc001miv.2	-	5	1228	c.942C>T	c.(940-942)acC>acT	p.T314T	MRVI1-AS1_uc001miu.3_Intron|MRVI1-AS1_uc021qds.1_Intron|LYVE1_uc010rca.1_Silent_p.T210T	NM_006691	NP_006682	Q9Y5Y7	LYVE1_HUMAN	Homo sapiens lymphatic vessel endothelial hyaluronan receptor 1 (LYVE1), mRNA.	314					anatomical structure morphogenesis|cell-matrix adhesion|cellular component movement|response to wounding|transport	integral to plasma membrane|membrane fraction		p.T314T(2)|p.T313S(1)		central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8				all cancers(16;7.22e-08)|Epithelial(150;1.03e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0609)		GGCATCGCACGGTAGTTTTGC	0.463													A	10580685	G	A	10580685	2	1	33	1	0	0	0	0	0	0	0	1	9200	1103	39	1		1	LYVE1	11	10580685	Silent	SNP	G	TCGA-06-0169-01A-01D-1490-08	5560287	10580685	124425831	41	1976											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955854	18955854	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgaacaggaagccacataAcatccactccaggatgctcc	14	6	7	14	0	0	1	0	1	0	0	3	3	3	3	4	2	4	1	4	2	3	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:18955854A>C	uc001mpg.3	-	0	696	c.478T>G	c.(478-480)Tta>Gta	p.L160V		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	160					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGCCACATAACATCCACTCC	0.557													C	18955854	A	C	18955854	3	2	33	1	0	0	0	0	1	0	0	0	9842	40	2	5	494	5	MRGPRX1	11	18955854	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	8375169	18955854	116050662	42	1977											
ATG2A	23130	broad.mit.edu	37	chr11	64663974	64663974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgctgagttccagggcgGcagaggctgtggatgagcca	7	8	18	8	1	0	3	0	2	0	1	1	4	1	4	2	5	2	5	2	5	0	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:64663974G>A	uc001obx.3	-	38	5502	c.5387C>T	c.(5386-5388)gCc>gTc	p.A1796V	ATG2A_uc001obw.3_Missense_Mutation_p.A561V	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1796							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TTCCAGGGCGGCAGAGGCTGT	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64663974	G	A	64663974	3	1	33	1	0	0	0	0	1	0	0	0	1098	1203	42	2	441	2	ATG2A	11	64663974	Missense_Mutation	SNP	G	TCGA-06-0169-01A-01D-1490-08	45708120	64663974	70342542	43	1978											
DSCAML1	57453	broad.mit.edu	37	chr11	117306485	117306485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcacatcatccccttcaCcttgagcagacttgatgggt	8	13	7	13	0	4	3	3	2	1	1	5	3	5	3	3	1	1	1	3	1	0	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:117306485C>T	uc001prh.1	-	26	4933	c.4931G>A	c.(4930-4932)gGt>gAt	p.G1644D		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1584					axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		ATCCCCTTCACCTTGAGCAGA	0.522													T	117306485	C	T	117306485	3	4	33	1	0	0	0	0	1	0	0	0	4808	507	18	2	1438	2	DSCAML1	11	117306485	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	52642511	117306485	17700031	44	1979											
VPS11	55823	broad.mit.edu	37	chr11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaactggattggcctttCgccaagcaggaaagaccact	11	9	10	11	1	0	1	0	0	0	1	1	3	0	3	3	3	2	2	3	3	3	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:118941054C>T	uc010ryx.2	+	4	619	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	VPS11_uc010ryy.2_Missense_Mutation_p.R41C	NM_021729	NP_068375	Q9H270	VPS11_HUMAN	Homo sapiens vacuolar protein sorting 11 homolog (S. cerevisiae) (VPS11), mRNA.	195					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517													T	118941054	C	T	118941054	3	4	33	1	0	0	0	0	1	0	0	0	17290	884	31	1	596	1	VPS11	11	118941054	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	1634569	118941054	16065462	45	1980											
ROBO4	54538	broad.mit.edu	37	chr11	124765757	124765757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtgtcacattttccAgctgaattcgcacagccaga	11	10	8	12	1	2	2	2	1	0	1	4	2	3	2	2	0	3	3	2	0	1	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr11:124765757A>C	uc001qbg.3	-	4	871	c.731T>G	c.(730-732)cTg>cGg	p.L244R	ROBO4_uc010sas.2_Missense_Mutation_p.L99R|ROBO4_uc001qbh.2_Missense_Mutation_p.L134R|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'Flank	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	244					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		CACATTTTCCAGCTGAATTCG	0.602													C	124765757	A	C	124765757	3	2	33	1	0	0	0	0	1	0	0	0	13607	188	7	5	2348	5	ROBO4	11	124765757	Missense_Mutation	SNP	A	TCGA-06-0169-01A-01D-1490-08	5824703	124765757	10240759	46	1981											
PTPN6	5777	broad.mit.edu	37	chr12	7069548	7069548	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacgggaacatcacctaTcccccagccatgaagaatgc	13	6	9	13	1	1	2	1	1	0	1	2	4	2	3	4	1	4	1	4	1	5	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr12:7069548T>C	uc001qsb.2	+	13	1865	c.1623T>C	c.(1621-1623)taT>taC	p.Y541Y	PTPN6_uc001qsa.1_Silent_p.Y543Y|PTPN6_uc010sfr.1_Silent_p.Y502Y|PTPN6_uc009zfl.1_Silent_p.Y541Y|PTPN6_uc010sfs.1_Silent_p.Y529Y	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	541					apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						ACATCACCTATCCCCCAGCCA	0.647													C	7069548	T	C	7069548	2	2	33	1	0	0	0	0	0	0	0	1	12880	1442	50	3		3	PTPN6	12	7069548	Silent	SNP	T	TCGA-06-0169-01A-01D-1490-08		7069548	126782347	47	1982											
ZC3H13	23091	broad.mit.edu	37	chr13	46559437	46559437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaaaccttaccctttTcaggtaactcaggaaccctc	13	10	5	13	0	3	0	3	0	0	0	4	1	3	1	3	2	4	1	3	2	5	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr13:46559437T>C	uc010tfw.1	-	8	1721	c.1715A>G	c.(1714-1716)gAa>gGa	p.E572G	ZC3H13_uc001vas.1_Missense_Mutation_p.E572G|ZC3H13_uc001vat.1_Missense_Mutation_p.E572G	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	572	Arg/Ser-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CTTACCCTTTTCAGGTAACTC	0.358													C	46559437	T	C	46559437	3	2	33	1	0	0	0	0	1	0	0	0	17666	1783	62	3	3011	3	ZC3H13	13	46559437	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08		46559437	68610441	48	1983											
OR4K13	390433	broad.mit.edu	37	chr14	20502502	20502502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagcccagtgagcaccCgtgggctcatgatggtcatg	9	8	13	11	1	2	2	2	2	0	0	2	2	2	2	2	2	2	3	2	2	1	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr14:20502502C>T	uc010tkz.2	-	0	416	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AGTGAGCACCCGTGGGCTCAT	0.488													T	20502502	C	T	20502502	3	4	33	1	0	0	0	0	1	0	0	0	11144	652	23	1	500	1	OR4K13	14	20502502	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		20502502	86847038	49	1984											
NIPA2	81614	broad.mit.edu	37	chr15	23006662	23006662	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatccaagccaggggatgCcgcagcacaggcttccctgc	10	5	12	14	1	0	1	0	0	0	1	2	2	2	2	4	3	4	3	4	3	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23006662C>T	uc001yvb.3	-	9	1499	c.642G>A	c.(640-642)cgG>cgA	p.R214R	NIPA2_uc001yux.3_Silent_p.R214R|NIPA2_uc001yuy.3_Silent_p.R214R|NIPA2_uc001yuz.3_Silent_p.R214R|NIPA2_uc010ayb.3_Silent_p.R195R|NIPA2_uc001yva.3_Silent_p.R195R	NM_001184889	NP_112184	Q8N8Q9	NIPA2_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 2 (NIPA2), transcript variant 5, mRNA.	214						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		CCAGGGGATGCCGCAGCACAG	0.502													T	23006662	C	T	23006662	2	4	33	1	0	0	0	0	0	0	0	1	10499	726	26	2		2	NIPA2	15	23006662	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08		23006662	79524730	50	1985											
MKRN3	7681	broad.mit.edu	37	chr15	23811322	23811322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggccactgagggtggCgtttcgccgcctggggcctc	5	8	16	12	3	0	2	0	1	0	1	2	2	0	2	4	5	0	1	4	5	1	1	rs36072495	byFrequency	TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr15:23811322C>T	uc001ywh.4	+	0	869	c.393C>T	c.(391-393)ggC>ggT	p.G131G	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.G131G	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	131						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGAGGGTGGCGTTTCGCCGC	0.622													T	23811322	C	T	23811322	2	4	33	1	0	0	0	0	0	0	0	1	9683	755	27	1		1	MKRN3	15	23811322	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	804660	23811322	78720070	51	1986											
CLCN7	1186	broad.mit.edu	37	chr16	1507700	1507700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcactttgttacctttcCcacggccaggcccccgacca	6	10	8	17	2	0	0	0	0	0	0	1	1	1	0	6	2	2	2	6	2	1	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:1507700C>T	uc002clv.2	-	7	843	c.733G>A	c.(733-735)Gga>Aga	p.G245R	CLCN7_uc002clw.2_Missense_Mutation_p.G221R	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	245						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GTTACCTTTCCCACGGCCAGG	0.632													T	1507700	C	T	1507700	3	4	33	1	0	0	0	0	1	0	0	0	3499	632	22	2	1756	2	CLCN7	16	1507700	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		1507700	88847053	52	1987											
PKD1	5310	broad.mit.edu	37	chr16	2147417	2147417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcctggccccgtgccagCtgccgcagattgctacccac	5	6	10	20	3	0	1	0	0	0	1	0	1	0	1	7	1	5	3	7	1	1	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:2147417C>T	uc002cos.1	-	32	10517	c.10308G>A	c.(10306-10308)caG>caA	p.Q3436Q	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Q3435Q|PKD1_uc010bse.1_Non-coding_Transcript	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	3436					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CCCGTGCCAGCTGCCGCAGAT	0.677													T	2147417	C	T	2147417	2	4	33	1	0	0	0	0	0	0	0	1	12040	796	28	2		2	PKD1	16	2147417	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	639717	2147417	88207336	53	1988											
GPR139	124274	broad.mit.edu	37	chr16	20043354	20043354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagcggttctggatgggCgccccatagaggtggtaaag	9	7	16	9	2	1	1	0	0	1	1	1	2	1	2	3	5	2	2	3	5	3	3			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr16:20043354C>T	uc002dgu.1	-	1	927	c.765G>A	c.(763-765)gcG>gcA	p.A255A	GPR139_uc010vaw.1_Silent_p.A162A	NM_001002911	NP_001002911	Q6DWJ6	GP139_HUMAN	Homo sapiens G protein-coupled receptor 139 (GPR139), mRNA.	255						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TCTGGATGGGCGCCCCATAGA	0.532													T	20043354	C	T	20043354	2	4	33	1	0	0	0	0	0	0	0	1	6702	755	27	1		1	GPR139	16	20043354	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	17895937	20043354	70311399	54	1989											
KRT13	3860	broad.mit.edu	37	chr17	39659672	39659672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggcctccacgctctggCgcagggccagctcattctca	5	9	11	16	3	3	0	2	0	2	0	6	0	4	0	3	3	1	3	3	3	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39659672C>T	uc002hwu.1	-	2	665	c.602G>A	c.(601-603)cGc>cAc	p.R201H	KRT13_uc002hwv.1_Missense_Mutation_p.R201H|KRT13_uc010wfr.2_Missense_Mutation_p.R94H|KRT13_uc010cxo.3_Missense_Mutation_p.R201H|KRT13_uc021txk.1_Missense_Mutation_p.R94H	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R201H(2)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CACGCTCTGGCGCAGGGCCAG	0.478													T	39659672	C	T	39659672	3	4	33	1	0	0	0	0	1	0	0	0	8508	768	27	1	798	1	KRT13	17	39659672	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		39659672	41535538	55	1990											
KRT14	3861	broad.mit.edu	37	chr17	39741254	39741254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcatccgcggccagaCgggcattgtcaatctgcaga	10	7	13	11	3	3	2	2	0	1	2	4	3	4	3	2	3	1	2	2	3	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:39741254C>T	uc002hxf.2	-	1	642	c.581G>A	c.(580-582)cGt>cAt	p.R194H	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	194	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				CGCGGCCAGACGGGCATTGTC	0.502													T	39741254	C	T	39741254	3	4	33	1	0	0	0	0	1	0	0	0	8509	536	19	1	865	1	KRT14	17	39741254	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	81582	39741254	41453956	56	1991											
MED13	9969	broad.mit.edu	37	chr17	60060308	60060308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagctccacgaggagtcCgaggagtccttggagtcctt	8	8	12	13	2	0	0	0	0	0	0	4	5	4	3	5	3	1	1	5	3	0	2			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr17:60060308C>T	uc002izo.3	-	15	3133	c.3056G>A	c.(3055-3057)cGg>cAg	p.R1019Q		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	1019					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ACGAGGAGTCCGAGGAGTCCT	0.512													T	60060308	C	T	60060308	3	4	33	1	0	0	0	0	1	0	0	0	9505	652	23	1	3528	1	MED13	17	60060308	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	20319054	60060308	21134902	57	1992											
MUC16	94025	broad.mit.edu	37	chr19	9067788	9067788	+	Frame_Shift_Del	DEL	G	G	-																															ccacagatgccagcatatctGtggtcttcactaggccagag																										TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:9067788delG	uc002mkp.3	-	2	19862	c.19658delC	c.(19657-19659)acafs	p.T6553fs		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6555	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T6552A(1)		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						CAGCATATCTGTGGTCTTCAC	0.473													-	9067788	G	-	9067788	7	5	33	1	0	1	0	1	0	0	0	0	10049	1377	48	0	24193	0	MUC16	19	9067788	Frame_Shift_Del	DEL	G	TCGA-06-0169-01A-01D-1490-08		9067788	50061195	58	1993											
PAPL	390928	broad.mit.edu	37	chr19	39591660	39591660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccatgtactgctccaaCgcagatctggacgactgcac	9	7	10	15	3	1	1	0	0	1	1	2	3	2	2	2	2	4	4	2	2	2	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:39591660C>T	uc002oki.3	+	7	1153	c.879C>T	c.(877-879)aaC>aaT	p.N293N	PAPL_uc010egl.3_Missense_Mutation_p.T252M	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	293						extracellular region	acid phosphatase activity|metal ion binding										ACTGCTCCAACGCAGATCTGG	0.612													T	39591660	C	T	39591660	2	4	33	1	0	0	0	0	0	0	0	1	11503	535	19	1		1	PAPL	19	39591660	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	30523872	39591660	19537323	59	1994											
KDELR1	10945	broad.mit.edu	37	chr19	48887570	48887570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcgatgaggtcgaagaagCcctcgaaatggtagcgccag	11	6	15	9	4	0	2	0	1	0	1	2	5	0	2	2	3	2	1	2	3	4	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:48887570C>T	uc002pjb.1	-	3	716	c.521G>A	c.(520-522)gGc>gAc	p.G174D	KDELR1_uc002pja.1_Missense_Mutation_p.G112D	NM_006801	NP_006792	P24390	ERD21_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1 (KDELR1), mRNA.	174					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		GTCGAAGAAGCCCTCGAAATG	0.542													T	48887570	C	T	48887570	3	4	33	1	0	0	0	0	1	0	0	0	8177	739	26	2	125	2	KDELR1	19	48887570	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08	9295910	48887570	10241413	60	1995											
TRPM4	54795	broad.mit.edu	37	chr19	49705399	49705400	+	Splice_Site	INS	-	-	T																															tgctcattgccatgttcaggINStgaggcctgactgctctctg																										TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr19:49705399_49705400insT	uc002pmw.3	+	20	3239	c.3131_splice	c.e20+1	p.S1044_splice	TRPM4_uc010emu.3_Splice_Site_p.S899_splice|TRPM4_uc010yak.2_Splice_Site_p.S508_splice|TRPM4_uc002pmx.3_Splice_Site_p.S870_splice|TRPM4_uc010emv.3_Splice_Site_p.S929_splice|TRPM4_uc010yal.2_Splice_Site_p.S690_splice|TRPM4_uc002pmy.3_Splice_Site_p.S386_splice	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	1044					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CCATGTTCAGGTGAGGCCTGAC	0.55													T	49705400	-	T	49705399	8	5	33	1	0	1	1	0	0	0	1	0	16689	1275	44	0	3210	0	TRPM4	19	49705399	Splice_Site	INS	-	TCGA-06-0169-01A-01D-1490-08	817829	49705399	9423584	61	1996											
SLC24A3	57419	broad.mit.edu	37	chr20	19677519	19677519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggctgctgggaccagcgtgCctgactgcatggccagcctc	5	8	14	14	1	0	1	0	1	0	0	1	2	0	2	4	3	5	3	4	3	0	0			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:19677519C>T	uc002wrl.3	+	13	1767	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S		NM_020689	NP_065740	Q9HC58	NCKX3_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 3 (SLC24A3), mRNA.	524						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GACCAGCGTGCCTGACTGCAT	0.592													T	19677519	C	T	19677519	3	4	33	1	0	0	0	0	1	0	0	0	14561	739	26	2	1624	2	SLC24A3	20	19677519	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		19677519	43348001	62	1997											
ZSWIM1	90204	broad.mit.edu	37	chr20	44512381	44512381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccctgccagctgcagcTgctactttaaccaggccttc	7	9	8	17	0	0	0	0	0	0	0	1	0	0	0	5	1	8	4	5	1	2	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:44512381T>C	uc021wem.1	+	0	1150	c.1150T>C	c.(1150-1152)Tgc>Cgc	p.C384R	ZSWIM1_uc010ghi.3_Missense_Mutation_p.C384R	NM_080603	NP_542170	Q9BR11	ZSWM1_HUMAN	Homo sapiens zinc finger, SWIM-type containing 1 (ZSWIM1), mRNA.	384							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				CAGCTGCAGCTGCTACTTTAA	0.597													C	44512381	T	C	44512381	3	2	33	1	0	0	0	0	1	0	0	0	18337	1580	55	3	1152	3	ZSWIM1	20	44512381	Missense_Mutation	SNP	T	TCGA-06-0169-01A-01D-1490-08	24834862	44512381	18513139	63	1998											
COL20A1	57642	broad.mit.edu	37	chr20	61938888	61938888	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgtgcctgctgacatggtCttcctggtggacgggtcctg	3	11	14	13	2	1	1	0	1	1	0	3	2	3	2	4	4	2	1	4	4	0	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr20:61938888C>G	uc011aau.2	+	5	643	c.543C>G	c.(541-543)gtC>gtG	p.V181V	COL20A1_uc011aav.2_Silent_p.V2V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	181	VWFA.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CTGACATGGTCTTCCTGGTGG	0.652													G	61938888	C	G	61938888	2	3	33	1	0	0	0	0	0	0	0	1	3710	900	32	4		4	COL20A1	20	61938888	Silent	SNP	C	TCGA-06-0169-01A-01D-1490-08	17426507	61938888	1086632	64	1999											
TMPRSS2	7113	broad.mit.edu	37	chr21	42842599	42842599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggtggccccccaccCggaaatccagcagagctgtt	7	7	10	17	2	0	1	0	0	0	1	3	2	2	2	6	3	2	3	6	3	1	1			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr21:42842599C>T	uc010gor.3	-	10	1319	c.1258G>A	c.(1258-1260)Ggg>Agg	p.G420R	TMPRSS2_uc002yzj.3_Missense_Mutation_p.G383R|TMPRSS2_uc010gos.1_Missense_Mutation_p.G383R	NM_001135099	NP_005647	O15393	TMPS2_HUMAN	Homo sapiens transmembrane protease, serine 2 (TMPRSS2), transcript variant 1, mRNA.	383	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GCCCCCCACCCGGAAATCCAG	0.582			T	"ERG, ETV1, ETV4, ETV5"	prostate								T	42842599	C	T	42842599	3	4	33	1	0	0	0	0	1	0	0	0	16347	652	23	1	347	1	TMPRSS2	21	42842599	Missense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		42842599	5287296	65	2000											
FBXO7	25793	broad.mit.edu	37	chr22	32887162	32887162	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcttctggcttttaccCgacaaggtaagagatgaaat	12	12	8	9	1	2	2	0	1	2	1	3	4	3	2	2	2	1	2	2	2	4	4			TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chr22:32887162C>T	uc003amq.3	+	5	1244	c.961C>T	c.(961-963)Cga>Tga	p.R321*	FBXO7_uc003amp.1_3'UTR|FBXO7_uc003amt.3_Nonsense_Mutation_p.R242*|FBXO7_uc003amu.3_Nonsense_Mutation_p.R207*|FBXO7_uc003amv.3_5'Flank	NM_012179	NP_036311	Q9Y3I1	FBX7_HUMAN	Homo sapiens F-box protein 7 (FBXO7), transcript variant 1, mRNA.	321					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGCTTTTACCCGACAAGGTAA	0.368													T	32887162	C	T	32887162	4	4	33	1	0	0	0	0	0	1	0	0	5809	644	23	1	1024	1	FBXO7	22	32887162	Nonsense_Mutation	SNP	C	TCGA-06-0169-01A-01D-1490-08		32887162	18417404	66	2001											
EIF2S3	1968	broad.mit.edu	37	chrX	24094874	24094877	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															tcagataagaagaggagtgaCaatcaagccaacagtagatg																										TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:24094874_24094877delCAAT	uc004dbc.3	+	11	1412_1415	c.1391_1394delCAAT	c.(1390-1395)acaatcfs	p.T464fs		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	464						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						AGAGGAGTGACAATCAAGCCAACA	0.348													-	24094877	CAAT	-	24094874	7	5	33	1	0	1	0	1	0	0	0	0	5050	478	17	0	1437	0	EIF2S3	23	24094874	Frame_Shift_Del	DEL	CAAT	TCGA-06-0169-01A-01D-1490-08		24094874	131175686	67	2002											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-06-0169-01A-01D-1490-08	TCGA-06-0169-10A-01D-1490-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06053a14-2d9a-4df0-a79b-81bda36bf3c3	461cc736-47e8-46bc-90ca-7f5f8f1411a2	g.chrX:72433664_72433666delTCC	uc004ebi.3	-	0	1045_1047	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													-	72433666	TCC	-	72433664	7	5	33	1	0	1	0	1	0	0	0	0	10233	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-06-0169-01A-01D-1490-08	48338790	72433664	82836896	68	2003											
TMCO4	255104	broad.mit.edu	37	chr1	20107156	20107156	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggttggcctcagtcagctcCcggcccgtgggcaggtgtgg	3	8	17	13	3	2	0	2	0	0	0	3	0	3	0	3	6	1	3	3	6	0	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:20107156C>T	uc001bcn.3	-	3	338	c.96G>A	c.(94-96)cgG>cgA	p.R32R	TMCO4_uc001bco.1_Silent_p.R32R|TMCO4_uc001bcp.1_Silent_p.R32R|TMCO4_uc009vpn.1_Silent_p.R32R|TMCO4_uc001bcq.1_Silent_p.R32R	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	32						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CAGTCAGCTCCCGGCCCGTGG	0.612													T	20107156	C	T	20107156	2	4	34	1	0	0	0	0	0	0	0	1	16098	610	22	2		2	TMCO4	1	20107156	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08		20107156	229143465	1	2004											
ARID1A	8289	broad.mit.edu	37	chr1	27101098	27101098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatttccattccagtttggCcgagaccgtgtctctgcacc	7	12	8	14	2	1	1	0	0	1	1	4	2	3	1	5	1	1	2	5	1	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:27101098C>T	uc001bmv.1	+	17	4753	c.4380C>T	c.(4378-4380)ggC>ggT	p.G1460G	ARID1A_uc001bmt.1_Silent_p.G1459G|ARID1A_uc001bmu.1_Intron|ARID1A_uc001bmw.1_Silent_p.G1077G|ARID1A_uc001bmx.1_Silent_p.G306G|ARID1A_uc009vsm.1_Intron|ARID1A_uc009vsn.1_5'UTR	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1460					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCAGTTTGGCCGAGACCGTG	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27101098	C	T	27101098	2	4	34	1	0	0	0	0	0	0	0	1	916	726	26	2		2	ARID1A	1	27101098	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	6993942	27101098	222149523	2	2005											
GNL2	29889	broad.mit.edu	37	chr1	38049466	38049466	+	Splice_Site	DEL	A	A	-																															ggagagaatttaggagtcttAccttgtagagctcaccccat																										TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:38049466delA	uc001cbk.3	-	6	799	c.636_splice	c.e6+1	p.K212_splice	GNL2_uc010oif.1_Splice_Site_p.K53_splice|GNL2_uc009vve.2_3'UTR	NM_013285	NP_037417	Q13823	NOG2_HUMAN	Homo sapiens guanine nucleotide binding protein-like 2 (nucleolar) (GNL2), mRNA.	212					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				TAGGAGTCTTACCTTGTAGAG	0.383													-	38049466	A	-	38049466	8	5	34	1	0	1	0	1	0	0	1	0	6592	405	14	0	1601	0	GNL2	1	38049466	Splice_Site	DEL	A	TCGA-06-0173-01A-01D-1491-08	10948368	38049466	211201155	3	2006											
ISG20L2	81875	broad.mit.edu	37	chr1	156697400	156697400	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccttctaatgcctttttGggaggaggttccccaaaatc	8	15	8	10	0	1	0	0	0	1	0	4	2	3	2	4	3	1	1	4	3	3	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:156697400G>C	uc001fps.1	-	0	306	c.45C>G	c.(43-45)ccC>ccG	p.P15P	ISG20L2_uc001fpt.1_Silent_p.P15P|RRNAD1_uc001fpu.3_5'Flank|RRNAD1_uc001fpv.3_5'Flank	NM_030980	NP_112242	Q9H9L3	I20L2_HUMAN	Homo sapiens interferon stimulated exonuclease gene 20kDa-like 2 (ISG20L2), mRNA.	15					ribosome biogenesis	nucleolus	exonuclease activity|nucleic acid binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					ATGCCTTTTTGGGAGGAGGTT	0.458													C	156697400	G	C	156697400	2	2	34	1	0	0	0	0	0	0	0	1	7913	1335	47	4		4	ISG20L2	1	156697400	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	118647934	156697400	92553221	4	2007											
NFASC	23114	broad.mit.edu	37	chr1	204943900	204943900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatctacacctgtgtcGccaccaacatcctgggcaaa	11	7	9	14	1	1	0	0	0	1	0	3	0	2	0	4	2	2	2	4	2	3	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:204943900G>A	uc010prc.2	+	12	1737	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	NFASC_uc001hbh.3_Missense_Mutation_p.A503T|NFASC_uc010pqz.2_Missense_Mutation_p.A497T|NFASC_uc001hbj.3_Missense_Mutation_p.A503T|NFASC_uc010pra.2_Missense_Mutation_p.A514T|NFASC_uc001hbi.3_Missense_Mutation_p.A514T|NFASC_uc010prb.2_Missense_Mutation_p.A514T|NFASC_uc001hbk.1_Missense_Mutation_p.A324T			O94856	NFASC_HUMAN	Homo sapiens neurofascin (NFASC), transcript variant 2, mRNA.	503	Ig-like C2-type 1.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	p.A503T(2)|p.A514T(1)|p.W69*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACCTGTGTCGCCACCAACAT	0.532													A	204943900	G	A	204943900	3	1	34	1	0	0	0	0	1	0	0	0	10435	1087	38	1	1608	1	NFASC	1	204943900	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	48246500	204943900	44306721	5	2008											
OBSCN	84033	broad.mit.edu	37	chr1	228520994	228520994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggcccctggcacaCgcctggccaagttccagctc	6	7	11	17	1	0	0	0	0	0	0	3	0	2	0	6	4	1	3	6	4	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:228520994C>T	uc009xez.1	+	57	15870	c.15826C>T	c.(15826-15828)Cgc>Tgc	p.R5276C	OBSCN_uc001hsn.3_Missense_Mutation_p.R5276C|OBSCN_uc001hsr.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5276	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCTGGCACACGCCTGGCCAA	0.637													T	228520994	C	T	228520994	3	4	34	1	0	0	0	0	1	0	0	0	10888	536	19	1	16052	1	OBSCN	1	228520994	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	23577094	228520994	20729627	6	2009											
OR2W5	441932	broad.mit.edu	37	chr1	247654765	247654765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgggctccaccgagtgCgtcctcctggttgtcatgtc	4	12	12	13	2	1	0	1	0	0	0	5	1	4	0	4	2	2	3	4	2	0	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr1:247654765C>T	uc001icz.2	+	0	396	c.336C>T	c.(334-336)tgC>tgT	p.C112C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CCACCGAGTGCGTCCTCCTGG	0.602													T	247654765	C	T	247654765	2	4	34	1	0	0	0	0	0	0	0	1	11110	776	27	1		1	OR2W5	1	247654765	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	19133771	247654765	1595856	7	2010											
APOB	338	broad.mit.edu	37	chr2	21235218	21235218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagccggccagtgttaggatCcctctgacaagacaggccat	10	7	12	12	1	1	2	0	1	1	1	2	4	2	3	4	3	1	1	4	3	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:21235218C>T	uc002red.3	-	25	4650	c.4522G>A	c.(4522-4524)Gat>Aat	p.D1508N		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1508					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGTTAGGATCCCTCTGACAA	0.458													T	21235218	C	T	21235218	3	4	34	1	0	0	0	0	1	0	0	0	788	855	30	2	9185	2	APOB	2	21235218	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		21235218	221964155	8	2011											
GPR113	165082	broad.mit.edu	37	chr2	26533656	26533656	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggtgaggccaaagatGggtgtaagaatgagcagggc	12	5	16	8	0	0	4	0	2	0	2	0	4	0	4	3	4	1	2	3	4	3	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:26533656G>T	uc002rhe.4	-	10	2940	c.2940C>A	c.(2938-2940)ccC>ccA	p.P980P	GPR113_uc010yky.1_Silent_p.P911P|GPR113_uc002rhb.1_Silent_p.P583P|GPR113_uc010eyk.1_Silent_p.P781P|GPR113_uc002rhc.1_Silent_p.P583P|GPR113_uc002rhd.1_Non-coding_Transcript	NM_001145168	NP_001138640	Q8IZF5	GP113_HUMAN	Homo sapiens G protein-coupled receptor 113 (GPR113), transcript variant 1, mRNA.	980					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCAAAGATGGGTGTAAGAA	0.572													T	26533656	G	T	26533656	2	4	34	1	0	0	0	0	0	0	0	1	6684	1335	47	4		4	GPR113	2	26533656	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	5298438	26533656	216665717	9	2012											
NBEAL1	65065	broad.mit.edu	37	chr2	204002914	204002914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgttagaatgggcaaTctcagaaaacagagaagcaa	20	6	10	5	0	1	4	1	0	1	4	2	5	1	4	0	1	2	3	0	1	8	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:204002914T>C	uc002uzt.3	+	28	4841	c.4508T>C	c.(4507-4509)aTc>aCc	p.I1503T	NBEAL1_uc021vvj.1_Missense_Mutation_p.I206T	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1503							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAATGGGCAATCTCAGAAAAC	0.373													C	204002914	T	C	204002914	3	2	34	1	0	0	0	0	1	0	0	0	10264	1435	50	3	4618	3	NBEAL1	2	204002914	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	177469258	204002914	39196459	10	2013											
MARCH4	57574	broad.mit.edu	37	chr2	217234886	217234886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaggagaccctggtggCgcaacatctggggggctggg	7	7	18	9	1	1	2	0	1	1	1	1	3	1	2	1	7	1	2	1	7	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:217234886C>T	uc002vgb.3	-	0	1865	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	33						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		ACCCTGGTGGCGCAACATCTG	0.632													T	217234886	C	T	217234886	3	4	34	1	0	0	0	0	1	0	0	0	9378	768	27	1	1150	1	MARCH4	2	217234886	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	13231972	217234886	25964487	11	2014											
SPP2	6694	broad.mit.edu	37	chr2	234959451	234959451	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatttccagaatggagaaGatgacgatgatgatgaagat	16	10	12	3	1	0	9	0	5	0	4	1	11	1	9	1	1	0	0	1	1	3	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr2:234959451G>A	uc002vvk.1	+	0	106	c.21G>A	c.(19-21)aaG>aaA	p.K7K	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	7					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGGAGAAGATGACGATGA	0.423													A	234959451	G	A	234959451	2	1	34	1	0	0	0	0	0	0	0	1	15183	933	33	2		2	SPP2	2	234959451	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	17724565	234959451	8239922	12	2015											
TTLL3	26140	broad.mit.edu	37	chr3	9839460	9839463	+	Splice_Site	DEL	AGGT	AGGT	-																															acaagccggaagtggaagtcAggtagggaaggacaagtcaa																										TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:9839460_9839463delAGGT	uc003btd.4	+	2	696	c.122_splice	c.e2+1	p.R41_splice	TTLL3_uc003btb.2_Splice_Site|TTLL3_uc003bta.2_Splice_Site|TTLL3_uc003bsz.2_Splice_Site_p.R41_splice|TTLL3_uc003btc.2_Splice_Site|TTLL3_uc021wsu.1_Splice_Site_p.R60_splice	NM_001198793	NP_001185722	Q9Y4R7	TTLL3_HUMAN	Homo sapiens ARPC4-TTLL3 readthrough (ARPC4-TTLL3), mRNA.	0					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGTGGAAGTCAGGTAGGGAAGGAC	0.564													-	9839463	AGGT	-	9839460	8	5	34	1	0	1	0	1	0	0	1	0	16830	202	7	0		0	TTLL3	3	9839460	Splice_Site	DEL	AGGT	TCGA-06-0173-01A-01D-1491-08		9839460	188182970	13	2016											
GUCA1C	9626	broad.mit.edu	37	chr3	108627021	108627021	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggagatcctgatcttttgCcatgccattgataaattctt	10	15	7	9	0	2	3	0	2	2	1	3	4	3	3	3	1	2	0	3	1	2	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:108627021C>A	uc003dxj.2	-	3	546	c.478G>T	c.(478-480)Gca>Tca	p.A160S	GUCA1C_uc003dxk.2_Missense_Mutation_p.G173V	NM_005459	NP_005450	O95843	GUC1C_HUMAN	Homo sapiens guanylate cyclase activator 1C (GUCA1C), mRNA.	160	EF-hand 4.				signal transduction|visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(2)|large_intestine(1)|liver(1)|lung(8)|pancreas(1)|skin(1)	14						TGATCTTTTGCCATGCCATTG	0.398													A	108627021	C	A	108627021	3	1	34	1	0	0	0	0	1	0	0	0	6945	739	26	4	155	4	GUCA1C	3	108627021	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	98787561	108627021	89395409	14	2017											
ABHD10	55347	broad.mit.edu	37	chr3	111697949	111697949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggcggcctgggtacCttgtcggagctggggctggg	3	9	20	9	2	0	0	0	0	0	0	1	1	0	1	2	7	3	4	2	7	1	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr3:111697949C>T	uc003dyk.4	+	0	122	c.41C>T	c.(40-42)cCt>cTt	p.P14L	ABHD10_uc011bhq.2_5'UTR	NM_018394	NP_060864	Q9NUJ1	ABHDA_HUMAN	Homo sapiens abhydrolase domain containing 10 (ABHD10), mRNA.	14						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GCCTGGGTACCTTGTCGGAGC	0.682													T	111697949	C	T	111697949	3	4	34	1	0	0	0	0	1	0	0	0	74	681	24	2	43	2	ABHD10	3	111697949	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	3070928	111697949	86324481	15	2018											
AFAP1	60312	broad.mit.edu	37	chr4	7802222	7802222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccggaacgtcagaggatGtttagaatccaaacccggga	13	6	12	10	3	1	2	1	0	0	2	2	5	2	5	3	3	3	1	3	3	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:7802222G>A	uc011bwk.1	-	9	1486	c.1213C>T	c.(1213-1215)Cat>Tat	p.H405Y	AFAP1_uc003gkg.1_Missense_Mutation_p.H405Y	NM_001134647	NP_001128119	Q8N556	AFAP1_HUMAN	Homo sapiens actin filament associated protein 1 (AFAP1), transcript variant a, mRNA.	405	PH 2.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						GTCAGAGGATGTTTAGAATCC	0.547													A	7802222	G	A	7802222	3	1	34	1	0	0	0	0	1	0	0	0	353	1377	48	2	1267	2	AFAP1	4	7802222	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		7802222	183352054	16	2019											
C4orf21	55345	broad.mit.edu	37	chr4	113510967	113510968	+	Frame_Shift_Del	DEL	TT	TT	-																															taccatgaagtcttcatctcTtgagttcaaagaaaaggtag																										TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:113510967_113510968delTT	uc003iau.3	-	10	3250_3251	c.3039_3040delAA	c.(3037-3042)tcaagafs	p.S1013fs	C4orf21_uc003iav.3_5'Flank|C4orf21_uc003iaw.3_Frame_Shift_Del_p.S1013fs	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	1013										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TCTTCATCTCTTGAGTTCAAAG	0.391													-	113510968	TT	-	113510967	7	5	34	1	0	1	0	1	0	0	0	0	2276	1617	56	0	3346	0	C4orf21	4	113510967	Frame_Shift_Del	DEL	TT	TCGA-06-0173-01A-01D-1491-08	105708745	113510967	77643309	17	2020											
LRAT	9227	broad.mit.edu	37	chr4	155670163	155670163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactgtgaagataattattCgtgatcagagaagtgttctt	13	14	10	4	1	2	5	1	2	1	3	3	6	2	5	0	0	0	1	0	0	4	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:155670163C>T	uc003iom.1	+	1	895	c.568C>T	c.(568-570)Cgt>Tgt	p.R190C	LRAT_uc003ion.1_Missense_Mutation_p.R190C	NM_004744	NP_004735	O95237	LRAT_HUMAN	Homo sapiens lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase) (LRAT), mRNA.	190					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GATAATTATTCGTGATCAGAG	0.373													T	155670163	C	T	155670163	3	4	34	1	0	0	0	0	1	0	0	0	9000	884	31	1	574	1	LRAT	4	155670163	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	42159196	155670163	35484113	18	2021											
ANP32C	23520	broad.mit.edu	37	chr4	165118645	165118645	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatacttccaggcccccTgagactcttagttcaagctt	9	11	7	14	0	2	1	1	1	1	1	3	2	3	1	4	1	2	2	4	1	4	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:165118645T>A	uc011cjk.2	-	0	219	c.219A>T	c.(217-219)tcA>tcT	p.S73S	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	73										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		CCAGGCCCCCTGAGACTCTTA	0.403													A	165118645	T	A	165118645	2	1	34	1	0	0	0	0	0	0	0	1	707	1567	55	5		5	ANP32C	4	165118645	Silent	SNP	T	TCGA-06-0173-01A-01D-1491-08	9448482	165118645	26035631	19	2022											
TRIML1	339976	broad.mit.edu	37	chr4	189068289	189068289	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagatgattacagcctctgGgtctcgtcacctttgaaagg	9	11	12	9	1	3	3	1	2	2	1	4	4	3	3	2	3	2	0	2	3	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr4:189068289G>T	uc003izm.1	+	5	1285	c.1170G>T	c.(1168-1170)tgG>tgT	p.W390C	TRIML1_uc003izn.1_Missense_Mutation_p.W114C	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	390	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ACAGCCTCTGGGTCTCGTCAC	0.488													T	189068289	G	T	189068289	3	4	34	1	0	0	0	0	1	0	0	0	16651	1241	43	4	1192	4	TRIML1	4	189068289	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	23949644	189068289	2085987	20	2023											
CDH9	1007	broad.mit.edu	37	chr5	26902711	26902711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggaggctcatctataTcttccacagatattttgacc	12	12	6	11	0	3	2	1	1	2	1	4	3	4	3	2	2	0	1	2	2	3	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:26902711T>A	uc003jgs.1	-	6	1296	c.1127A>T	c.(1126-1128)gAt>gTt	p.D376V		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E375E(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTCATCTATATCTTCCACAGA	0.408													A	26902711	T	A	26902711	3	1	34	1	0	0	0	0	1	0	0	0	3147	1435	50	5	1266	5	CDH9	5	26902711	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08		26902711	154012549	21	2024											
LHFPL2	10184	broad.mit.edu	37	chr5	77805969	77805969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatgaaggcaatgagctcgGcaaaagccaccacaatactc	15	6	8	12	1	1	2	1	2	0	0	3	2	1	2	2	2	3	3	2	2	6	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:77805969G>A	uc003kfo.3	-	3	744	c.68C>T	c.(67-69)gCc>gTc	p.A23V		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	23						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		AATGAGCTCGGCAAAAGCCAC	0.617													A	77805969	G	A	77805969	3	1	34	1	0	0	0	0	1	0	0	0	8825	1203	42	2	626	2	LHFPL2	5	77805969	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	50903258	77805969	103109291	22	2025											
CCDC112	153733	broad.mit.edu	37	chr5	114607281	114607281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctttaacttgaaaatttCctcccttttttgctgctttt	6	22	3	10	0	0	1	0	1	0	0	3	1	3	1	3	0	3	2	3	0	3	10			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:114607281C>T	uc003kqz.2	-	6	1179	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	CCDC112_uc003kqy.2_Missense_Mutation_p.E238K|CCDC112_uc003kra.2_Missense_Mutation_p.E321K	NM_001040440	NP_689762	Q8NEF3	CC112_HUMAN	Homo sapiens coiled-coil domain containing 112 (CCDC112), transcript variant 1, mRNA.	238										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		TTGAAAATTTCCTCCCTTTTT	0.289													T	114607281	C	T	114607281	3	4	34	1	0	0	0	0	1	0	0	0	2775	864	30	2	644	2	CCDC112	5	114607281	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	36801312	114607281	66307979	23	2026											
ODZ2	57451	broad.mit.edu	37	chr5	167674863	167674863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctatgatggcgtaggaCggcgggcttcctacaagacc	9	7	13	12	4	0	2	0	1	0	1	1	3	1	3	3	4	1	3	3	4	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr5:167674863C>T	uc010jjd.3	+	26	6892	c.6892C>T	c.(6892-6894)Cgg>Tgg	p.R2298W	ODZ2_uc003lzr.4_Missense_Mutation_p.R2068W|ODZ2_uc003lzt.4_Missense_Mutation_p.R1671W|ODZ2_uc010jje.3_Missense_Mutation_p.R1562W	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TGGCGTAGGACGGCGGGCTTC	0.552													T	167674863	C	T	167674863	3	4	34	1	0	0	0	0	1	0	0	0	10911	527	19	1	6998	1	ODZ2	5	167674863	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	53067582	167674863	13240397	24	2027											
OR10C1	442194	broad.mit.edu	37	chr6	29408233	29408233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagctagctgggtcggcGtgggcctgtggggtgctggt	3	10	19	9	2	0	0	0	0	0	0	1	0	0	0	1	6	4	3	1	6	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:29408233G>A	uc011dlp.2	+	0	518	c.441G>A	c.(439-441)gcG>gcA	p.A147A	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S146L(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGGTCGGCGTGGGCCTGTG	0.622													A	29408233	G	A	29408233	2	1	34	1	0	0	0	0	0	0	0	1	10974	1132	40	1		1	OR10C1	6	29408233	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08		29408233	141706834	25	2028											
GRM4	2914	broad.mit.edu	37	chr6	34101001	34101001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggcagcaggtccgggtcGttgttgatgcgatccagggc	6	10	16	9	3	0	1	0	1	0	0	3	2	2	1	2	4	2	4	2	4	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:34101001G>A	uc003oir.4	-	0	636	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GRM4_uc011dsn.2_Silent_p.N91N|GRM4_uc010jvh.3_Silent_p.N91N|GRM4_uc010jvi.3_5'UTR|GRM4_uc010jvk.1_Silent_p.N10N	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	91					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGTCCGGGTCGTTGTTGATGC	0.622													A	34101001	G	A	34101001	2	1	34	1	0	0	0	0	0	0	0	1	6854	1136	40	1		1	GRM4	6	34101001	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	4692768	34101001	137014066	26	2029											
DNAH8	1769	broad.mit.edu	37	chr6	38704936	38704936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaccagctgttcttgcaAcaaacaactggggtgcttta	10	13	8	10	0	2	0	0	0	2	0	2	0	2	0	1	2	7	4	1	2	5	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:38704936A>G	uc021yzh.1	+	5	965	c.856A>G	c.(856-858)Aca>Gca	p.T286A	DNAH8_uc003ooe.2_Missense_Mutation_p.T69A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTCTTGCAACAAACAACTG	0.383													G	38704936	A	G	38704936	3	3	34	1	0	0	0	0	1	0	0	0	4646	43	2	3	211	3	DNAH8	6	38704936	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	4603935	38704936	132410131	27	2030											
AIM1	202	broad.mit.edu	37	chr6	106967934	106967934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaagtgagtgtccaTccagagtcctcgtccaggtc	7	10	13	11	1	0	2	0	1	0	1	6	3	4	3	4	2	0	0	4	2	1	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:106967934T>C	uc003prh.3	+	1	2539	c.1627T>C	c.(1627-1629)Tcc>Ccc	p.S543P		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	543							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGAGTGTCCATCCAGAGTCCT	0.527													C	106967934	T	C	106967934	3	2	34	1	0	0	0	0	1	0	0	0	430	1435	50	3	1633	3	AIM1	6	106967934	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	68262998	106967934	64147133	28	2031											
C6orf170	221322	broad.mit.edu	37	chr6	121642861	121642861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgattccgatcagatgTgcatttttccatttcttctt	7	18	5	11	1	3	2	1	1	2	1	5	3	5	2	3	0	1	1	3	0	0	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:121642861T>C	uc003pyo.1	-	1	303	c.235A>G	c.(235-237)Aca>Gca	p.T79A	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	79					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		CGATCAGATGTGCATTTTTCC	0.368													C	121642861	T	C	121642861	3	2	34	1	0	0	0	0	1	0	0	0	2366	1696	59	3	3662	3	C6orf170	6	121642861	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	14674927	121642861	49472206	29	2032											
FNDC1	84624	broad.mit.edu	37	chr6	159653416	159653416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcctgcccaccacgcGtccacccagggcacctctca	6	6	7	22	2	2	0	1	0	2	0	5	0	3	0	7	1	1	1	7	1	0	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:159653416G>A	uc010kjv.3	+	10	2072	c.1872G>A	c.(1870-1872)gcG>gcA	p.A624A	FNDC1_uc010kjw.1_Silent_p.A509A	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	624						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CCCACCACGCGTCCACCCAGG	0.667													A	159653416	G	A	159653416	2	1	34	1	0	0	0	0	0	0	0	1	6017	1132	40	1		1	FNDC1	6	159653416	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	38010555	159653416	11461651	30	2033											
SLC22A2	6582	broad.mit.edu	37	chr6	160679423	160679423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtacacccagccgtcccGgcaggggcccagtggcaggc	6	4	14	17	3	0	0	0	0	0	0	2	0	1	0	4	5	2	3	4	5	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr6:160679423G>A	uc003qtf.3	-	0	541	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	SLC22A2_uc003qth.2_Missense_Mutation_p.R123W	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	123					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGCCGTCCCGGCAGGGGCCC	0.627													A	160679423	G	A	160679423	3	1	34	1	0	0	0	0	1	0	0	0	14545	1115	39	1	1344	1	SLC22A2	6	160679423	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	1026007	160679423	10435644	31	2034											
HECW1	23072	broad.mit.edu	37	chr7	43519279	43519279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccctcttcagaacggtcGtcttcccaatcatctaactc	10	12	4	15	2	5	1	2	0	3	1	9	1	7	1	2	1	2	0	2	1	4	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:43519279G>A	uc003tid.1	+	16	3775	c.3170G>A	c.(3169-3171)cGt>cAt	p.R1057H	HECW1_uc011kbi.1_Missense_Mutation_p.R1023H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	1057					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CAGAACGGTCGTCTTCCCAAT	0.542													A	43519279	G	A	43519279	3	1	34	1	0	0	0	0	1	0	0	0	7097	1145	40	1	3228	1	HECW1	7	43519279	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		43519279	115619384	32	2035											
BAZ1B	9031	broad.mit.edu	37	chr7	72892641	72892641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggccttttttaggaaTgtgaaagttagtgtgcagct	9	14	14	4	0	0	1	0	1	0	0	0	2	0	2	1	3	2	3	1	3	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:72892641T>A	uc003tyc.3	-	6	1502	c.1150A>T	c.(1150-1152)Att>Ttt	p.I384F		NM_032408	NP_115784	Q9UIG0	BAZ1B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1B (BAZ1B), mRNA.	384	Lys-rich.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTTTTAGGAATGTGAAAGTTA	0.433													A	72892641	T	A	72892641	3	1	34	1	0	0	0	0	1	0	0	0	1335	1464	51	5	3353	5	BAZ1B	7	72892641	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	29373362	72892641	86246022	33	2036											
PIK3CG	5294	broad.mit.edu	37	chr7	106524646	106524646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcctgtgcaggctactGtgtggcaacctttgttcttg	5	17	10	9	0	1	0	0	0	1	0	2	0	2	0	2	2	3	4	2	2	3	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:106524646G>C	uc003vdv.4	+	8	2892	c.2807G>C	c.(2806-2808)tGt>tCt	p.C936S	PIK3CG_uc003vdu.3_Missense_Mutation_p.C936S|PIK3CG_uc003vdw.3_Missense_Mutation_p.C936S	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	936	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.C936S(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GCAGGCTACTGTGTGGCAACC	0.363													C	106524646	G	C	106524646	3	2	34	1	0	0	0	0	1	0	0	0	11993	1377	48	4	2837	4	PIK3CG	7	106524646	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	33632005	106524646	52614017	34	2037											
IMPDH1	3614	broad.mit.edu	37	chr7	128038490	128038490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactatgacgtcgacgcccGcctgggtgagcaggtccaga	9	6	14	12	4	0	4	0	2	0	2	2	5	1	4	3	2	1	1	3	2	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:128038490G>A	uc011kol.1	-	6	903	c.797C>T	c.(796-798)gCg>gTg	p.A266V	IMPDH1_uc011kom.1_Missense_Mutation_p.A261V|IMPDH1_uc003vmt.2_Missense_Mutation_p.A241V|IMPDH1_uc003vmu.2_Missense_Mutation_p.A351V|IMPDH1_uc003vmx.2_Missense_Mutation_p.A274V|IMPDH1_uc003vmy.2_Missense_Mutation_p.A282V|IMPDH1_uc003vmw.2_Missense_Mutation_p.A341V|IMPDH1_uc011kon.1_Missense_Mutation_p.A318V|IMPDH1_uc003vmv.2_Missense_Mutation_p.A315V	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	266					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GTCGACGCCCGCCTGGGTGAG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	128038490	G	A	128038490	3	1	34	1	0	0	0	0	1	0	0	0	7784	1087	38	1	779	1	IMPDH1	7	128038490	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	21513844	128038490	31100173	35	2038											
CLCN1	1180	broad.mit.edu	37	chr7	143029823	143029823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcctctcccagttgatgCcccgcgaagccatcagtact	7	11	7	16	2	3	1	1	1	2	0	5	2	4	1	5	0	3	2	5	0	2	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143029823C>T	uc003wcr.1	+	11	1345	c.1258C>T	c.(1258-1260)Ccc>Tcc	p.P420S	CLCN1_uc011ktc.1_Intron	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	420					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.P420P(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCAGTTGATGCCCCGCGAAGC	0.522													T	143029823	C	T	143029823	3	4	34	1	0	0	0	0	1	0	0	0	3493	739	26	2	1304	2	CLCN1	7	143029823	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	14991333	143029823	16108840	36	2039											
OR2F2	135948	broad.mit.edu	37	chr7	143632969	143632969	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctttctgcctggttcTgttgtcctacatccggatca	6	14	8	13	1	3	0	1	0	2	0	5	2	5	1	4	2	2	2	4	2	1	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:143632969T>A	uc011ktv.2	+	0	644	c.644T>A	c.(643-645)cTg>cAg	p.L215Q		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					TGCCTGGTTCTGTTGTCCTAC	0.517													A	143632969	T	A	143632969	3	1	34	1	0	0	0	0	1	0	0	0	11073	1580	55	5	646	5	OR2F2	7	143632969	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	603146	143632969	15505694	37	2040											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914464	147914464	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagagactccagcagcaGagtagacaacgctcccgacc	12	4	10	15	2	0	3	0	0	0	3	2	5	2	3	4	0	4	4	4	0	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:147914464G>T	uc003weu.2	+	18	3611	c.3095G>T	c.(3094-3096)aGa>aTa	p.R1032I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1032					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TCCAGCAGCAGAGTAGACAAC	0.532										HNSCC(39;0.1)			T	147914464	G	T	147914464	3	4	34	1	0	0	0	0	1	0	0	0	3678	942	33	4	3169	4	CNTNAP2	7	147914464	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	4281495	147914464	11224199	38	2041											
UBE3C	9690	broad.mit.edu	37	chr7	156976584	156976584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaggggccctctctgAggaagggctgctggtgtatt	7	11	15	8	0	1	1	0	1	1	0	2	2	1	2	1	5	2	4	1	5	3	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr7:156976584A>T	uc010lqs.3	+	8	1316	c.1004A>T	c.(1003-1005)gAg>gTg	p.E335V	UBE3C_uc003wnf.2_Missense_Mutation_p.E292V|UBE3C_uc003wng.2_Missense_Mutation_p.E335V	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	335					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCCTCTCTGAGGAAGGGCTG	0.473													T	156976584	A	T	156976584	3	4	34	1	0	0	0	0	1	0	0	0	16983	304	11	5	1038	5	UBE3C	7	156976584	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	9062120	156976584	2162079	39	2042											
SCARA5	286133	broad.mit.edu	37	chr8	27737142	27737142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgcggaagccgagcatgCggcacaccacgtctccgtcc	8	4	11	18	6	1	0	0	0	1	0	3	2	2	1	5	2	3	2	5	2	1	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:27737142C>T	uc003xgj.3	-	7	1906	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	SCARA5_uc010luz.3_Missense_Mutation_p.R207H	NM_173833	NP_776194	Q6ZMJ2	SCAR5_HUMAN	Homo sapiens scavenger receptor class A, member 5 (putative) (SCARA5), mRNA.	432	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCGAGCATGCGGCACACCAC	0.642													T	27737142	C	T	27737142	3	4	34	1	0	0	0	0	1	0	0	0	13972	768	27	1	200	1	SCARA5	8	27737142	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		27737142	118626880	40	2043											
NRG1	3084	broad.mit.edu	37	chr8	31497984	31497984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaggaggcgccctatctgGtgaaggtgcaccaggtgtgg	7	7	19	8	1	1	1	0	1	1	0	1	3	1	3	2	7	1	1	2	7	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:31497984G>C	uc003xip.3	+	0	717	c.484G>C	c.(484-486)Gtg>Ctg	p.V162L	NRG1_uc022ats.1_Intron	NM_013962	NP_039256	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant GGF2, mRNA.	0					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GCCCTATCTGGTGAAGGTGCA	0.741													C	31497984	G	C	31497984	3	2	34	1	0	0	0	0	1	0	0	0	10723	1261	44	4	486	4	NRG1	8	31497984	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	3760842	31497984	114866038	41	2044											
SULF1	23213	broad.mit.edu	37	chr8	70515453	70515453	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatcgttctcaacattgActtggcccccacgatcctgg	9	10	8	14	2	1	2	1	1	1	1	4	3	2	2	3	2	1	1	3	2	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:70515453A>T	uc003xyg.2	+	9	1649	c.1088A>T	c.(1087-1089)gAc>gTc	p.D363V	SULF1_uc010lza.1_Missense_Mutation_p.D363V|SULF1_uc003xyd.2_Missense_Mutation_p.D363V|SULF1_uc003xye.2_Missense_Mutation_p.D363V|SULF1_uc003xyf.2_Missense_Mutation_p.D363V|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	363					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			CTCAACATTGACTTGGCCCCC	0.537													T	70515453	A	T	70515453	3	4	34	1	0	0	0	0	1	0	0	0	15466	275	10	5	1114	5	SULF1	8	70515453	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	39017469	70515453	75848569	42	2045											
RIMS2	9699	broad.mit.edu	37	chr8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatcttgttgttttagtcGgaatgtggaacaggggcttc	8	15	13	5	1	1	1	0	0	1	1	3	3	1	3	0	4	1	3	0	4	4	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:105001535G>A	uc003yls.3	+	14	2505	c.2264G>A	c.(2263-2265)cGg>cAg	p.R755Q	RIMS2_uc003ylp.3_Missense_Mutation_p.R977Q|RIMS2_uc003ylw.2_Missense_Mutation_p.R769Q|RIMS2_uc003ylq.3_Missense_Mutation_p.R769Q|RIMS2_uc003ylr.3_Missense_Mutation_p.R816Q	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R755S(1)|p.G754R(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			A	105001535	G	A	105001535	3	1	34	1	0	0	0	0	1	0	0	0	13459	1116	39	1	3122	1	RIMS2	8	105001535	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	34486082	105001535	41362487	43	2046											
EPPK1	83481	broad.mit.edu	37	chr8	144947336	144947336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgtgccggctcccagcGtggctgccatggctctgggt	2	8	18	13	3	1	0	0	0	1	0	2	0	2	0	3	6	3	3	3	6	0	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr8:144947336G>A	uc003zaa.1	-	0	99	c.86C>T	c.(85-87)aCg>aTg	p.T29M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	29						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTCCCAGCGTGGCTGCCAT	0.672													A	144947336	G	A	144947336	3	1	34	1	0	0	0	0	1	0	0	0	5231	1145	40	1	7180	1	EPPK1	8	144947336	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	39945801	144947336	1416686	44	2047											
C9orf66	157983	broad.mit.edu	37	chr9	214916	214916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcggctactctgcggcGcgccaggcccccgctttccg	2	8	12	19	7	1	0	0	0	1	0	3	0	3	0	5	3	2	2	5	3	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:214916G>A	uc003zge.4	-	0	978	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	DOCK8_uc011lls.1_5'UTR|DOCK8_uc003zgf.2_5'UTR	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	161								p.R161C(2)		central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		ACTCTGCGGCGCGCCAGGCCC	0.687													A	214916	G	A	214916	3	1	34	1	0	0	0	0	1	0	0	0	2516	1087	38	1	410	1	C9orf66	9	214916	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		214916	140998515	45	2048											
SUSD1	64420	broad.mit.edu	37	chr9	114874102	114874102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattccatagggtccaaccGttgtccttttatggatatct	8	16	8	9	1	1	1	0	1	1	0	4	2	4	2	4	2	1	1	4	2	4	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:114874102G>A	uc010mui.3	-	7	1044	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.R335W|SUSD1_uc010muj.3_Missense_Mutation_p.R335W			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	335						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTCCAACCGTTGTCCTTTT	0.498													A	114874102	G	A	114874102	3	1	34	1	0	0	0	0	1	0	0	0	15503	1144	40	1	1280	1	SUSD1	9	114874102	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	114659186	114874102	26339329	46	2049											
LAMC3	10319	broad.mit.edu	37	chr9	133927946	133927946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttccgggtgccccccGgggactccccactccctgta	4	8	10	19	2	0	1	0	1	0	0	3	2	3	2	8	3	1	1	8	3	1	2	rs142796007	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr9:133927946G>A	uc004caa.1	+	9	1797	c.1699G>A	c.(1699-1701)Ggg>Agg	p.G567R		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	567	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GGTGCCCCCCGGGGACTCCCC	0.622											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	133927946	G	A	133927946	3	1	34	1	0	0	0	0	1	0	0	0	8675	1116	39	1	1737	1	LAMC3	9	133927946	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	19053844	133927946	7285485	47	2050											
ACTA2	59	broad.mit.edu	37	chr10	90699345	90699345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttgcccatcaggcaactCgtaactcttctcaagggagg	10	9	9	13	1	3	0	2	0	2	0	5	1	3	1	1	3	3	2	1	3	3	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr10:90699345C>T	uc001kfp.3	-	6	843	c.727G>A	c.(727-729)Gag>Aag	p.E243K	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Missense_Mutation_p.E198K|ACTA2_uc001kfq.3_Missense_Mutation_p.E243K|AX748062_uc001kfo.1_Non-coding_Transcript	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	243					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TCAGGCAACTCGTAACTCTTC	0.512													T	90699345	C	T	90699345	3	4	34	1	0	0	0	0	1	0	0	0	192	893	31	1	418	1	ACTA2	10	90699345	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		90699345	44835402	48	2051											
OR51E2	81285	broad.mit.edu	37	chr11	4703067	4703067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatctgtttggttttggcaCcatagatgatgggattgatg	8	16	13	4	0	1	4	0	3	1	1	1	5	1	5	1	3	0	3	1	3	1	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:4703067C>G	uc001lzk.2	-	1	1119	c.875G>C	c.(874-876)gGt>gCt	p.G292A	OR51E2_uc021qcr.1_Missense_Mutation_p.G292A	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGTTTTGGCACCATAGATGAT	0.507													G	4703067	C	G	4703067	3	3	34	1	0	0	0	0	1	0	0	0	11171	507	18	4	91	4	OR51E2	11	4703067	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		4703067	130303449	49	2052											
OR5I1	10798	broad.mit.edu	37	chr11	55703533	55703533	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatggcggccaggatgAaggattctgtatctgcaaaa	12	8	13	8	1	2	1	0	1	2	0	2	3	2	3	2	5	1	2	2	5	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:55703533A>T	uc010ris.2	-	0	344	c.344T>A	c.(343-345)tTc>tAc	p.F115Y		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GGCCAGGATGAAGGATTCTGT	0.433													T	55703533	A	T	55703533	3	4	34	1	0	0	0	0	1	0	0	0	11240	246	9	5	603	5	OR5I1	11	55703533	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	51000466	55703533	79302983	50	2053											
AHNAK	79026	broad.mit.edu	37	chr11	62285595	62285595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacctggccccttcagttCgccagaaacctgtggcccct	7	8	8	18	1	1	1	1	0	0	1	2	1	1	1	7	2	1	1	7	2	1	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:62285595C>T	uc001ntl.3	-	4	16594	c.16294G>A	c.(16294-16296)Gaa>Aaa	p.E5432K	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5432					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCCTTCAGTTCGCCAGAAACC	0.527													T	62285595	C	T	62285595	3	4	34	1	0	0	0	0	1	0	0	0	414	893	31	1	1498	1	AHNAK	11	62285595	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	6582062	62285595	72720921	51	2054											
SLC22A9	114571	broad.mit.edu	37	chr11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaaatacatgaaccgtcGagcaagccagatgcttctca	14	8	8	11	2	1	3	1	2	1	1	3	4	1	3	2	0	5	2	2	0	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:63174115G>A	uc001nww.3	+	6	1488	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483													A	63174115	G	A	63174115	3	1	34	1	0	0	0	0	1	0	0	0	14555	1058	37	1	1246	1	SLC22A9	11	63174115	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	888520	63174115	71832401	52	2055											
KIAA1377	57562	broad.mit.edu	37	chr11	101815013	101815013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagagcttttgaggagaaacGaaaagaacaggaagaaaaag	21	5	12	3	1	0	5	0	1	0	4	0	8	0	6	0	2	3	1	0	2	8	3	rs145886481		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:101815013G>A	uc001pgm.3	+	2	536	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R45Q|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	89							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		GAGGAGAAACGAAAAGAACAG	0.313													A	101815013	G	A	101815013	3	1	34	1	0	0	0	0	1	0	0	0	8285	1058	37	1	276	1	KIAA1377	11	101815013	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	38640898	101815013	33191503	53	2056											
UBASH3B	84959	broad.mit.edu	37	chr11	122653798	122653798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataagaagcagctacatgtGaccctggcttaccacttcca	12	9	7	13	0	0	2	0	1	0	1	1	2	1	2	3	1	4	3	3	1	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:122653798G>A	uc001pyi.4	+	4	999	c.639G>A	c.(637-639)gtG>gtA	p.V213V		NM_032873	NP_116262	Q8TF42	UBS3B_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing B (UBASH3B), mRNA.	213						cytoplasm|nucleus	protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		AGCTACATGTGACCCTGGCTT	0.473													A	122653798	G	A	122653798	2	1	34	1	0	0	0	0	0	0	0	1	16942	1277	45	2		2	UBASH3B	11	122653798	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	20838785	122653798	12352718	54	2057											
APLP2	334	broad.mit.edu	37	chr11	130005535	130005535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacccctgtggacgtccggGtgagctctgaggagagtgag	8	7	17	9	2	1	5	0	3	1	2	2	7	2	6	3	3	1	1	3	3	0	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr11:130005535G>A	uc010sby.2	+	12	1919	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	APLP2_uc001qfp.3_Missense_Mutation_p.V588M|APLP2_uc001qfq.3_Missense_Mutation_p.V532M|APLP2_uc010sbz.2_Missense_Mutation_p.V376M|APLP2_uc001qfr.3_Missense_Mutation_p.V354M|APLP2_uc001qfs.3_Missense_Mutation_p.V359M|APLP2_uc021qsg.1_Missense_Mutation_p.V598M|APLP2_uc001qfv.3_Missense_Mutation_p.V479M|DQ600312_uc021qsh.1_5'Flank	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	588					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GGACGTCCGGGTGAGCTCTGA	0.592													A	130005535	G	A	130005535	3	1	34	1	0	0	0	0	1	0	0	0	782	1261	44	2	1812	2	APLP2	11	130005535	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	7351737	130005535	5000981	55	2058											
CAPRIN2	65981	broad.mit.edu	37	chr12	30888067	30888067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaacttgaagtatagttCgaagctttttcttctcagcc	10	15	7	9	1	2	2	1	2	2	0	4	3	2	2	1	0	3	3	1	0	5	7	rs139487645	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:30888067C>T	uc001rji.1	-	3	1395	c.644G>A	c.(643-645)cGa>cAa	p.R215Q	CAPRIN2_uc001rjf.1_Missense_Mutation_p.R12Q|CAPRIN2_uc001rjg.1_5'UTR|CAPRIN2_uc001rjh.1_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjk.4_Missense_Mutation_p.R215Q|CAPRIN2_uc001rjj.1_5'UTR|CAPRIN2_uc001rjl.4_Missense_Mutation_p.R215Q	NM_001002259	NP_001002259	Q6IMN6	CAPR2_HUMAN	Homo sapiens caprin family member 2 (CAPRIN2), transcript variant 1, mRNA.	215					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding	p.R215Q(2)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AAGTATAGTTCGAAGCTTTTT	0.413													T	30888067	C	T	30888067	3	4	34	1	0	0	0	0	1	0	0	0	2662	884	31	1	2799	1	CAPRIN2	12	30888067	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		30888067	102963828	56	2059											
OR6C3	254786	broad.mit.edu	37	chr12	55725701	55725701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaatctcatttacaaccGtatgcatccccagatttctg	12	13	5	11	1	2	2	1	0	2	2	4	2	3	2	3	0	3	2	3	0	5	5	rs139430640		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:55725701G>A	uc010spj.2	+	0	217	c.217G>A	c.(217-219)Gta>Ata	p.V73I		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ATTTACAACCGTATGCATCCC	0.428													A	55725701	G	A	55725701	3	1	34	1	0	0	0	0	1	0	0	0	11268	1145	40	1	219	1	OR6C3	12	55725701	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	24837634	55725701	78126194	57	2060											
PPFIA2	8499	broad.mit.edu	37	chr12	81747072	81747072	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggtggctgcttagtactCcaatctgttgagttctattc	8	15	10	8	0	2	1	0	1	2	0	4	1	3	1	1	2	2	5	1	2	5	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:81747072C>A	uc001szo.2	-	16	1981	c.1820G>T	c.(1819-1821)gGa>gTa	p.G607V	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Missense_Mutation_p.G533V|PPFIA2_uc021rbh.1_Missense_Mutation_p.G508V|PPFIA2_uc021rbi.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbj.1_Missense_Mutation_p.G607V|PPFIA2_uc021rbk.1_Missense_Mutation_p.G589V|PPFIA2_uc021rbl.1_Missense_Mutation_p.G607V|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Missense_Mutation_p.G174V|PPFIA2_uc021rbf.1_5'UTR	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	533								p.G607G(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						GCTTAGTACTCCAATCTGTTG	0.368													A	81747072	C	A	81747072	3	1	34	1	0	0	0	0	1	0	0	0	12387	855	30	4	2017	4	PPFIA2	12	81747072	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	26021371	81747072	52104823	58	2061											
ANO4	121601	broad.mit.edu	37	chr12	101520783	101520783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgaagcagaactggaaCgtctccagaaggaacgaaag	16	6	12	7	2	1	3	0	1	1	2	2	6	1	5	1	2	4	2	1	2	7	1	rs139827573		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:101520783C>T	uc010svm.1	+	26	3375	c.2803C>T	c.(2803-2805)Cgt>Tgt	p.R935C	ANO4_uc001thw.2_Missense_Mutation_p.R900C|ANO4_uc001thx.2_Missense_Mutation_p.R935C|ANO4_uc001thy.2_Missense_Mutation_p.R455C	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	935						chloride channel complex	chloride channel activity	p.R900S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						AGAACTGGAACGTCTCCAGAA	0.483										HNSCC(74;0.22)			T	101520783	C	T	101520783	3	4	34	1	0	0	0	0	1	0	0	0	699	536	19	1	2796	1	ANO4	12	101520783	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	19773711	101520783	32331112	59	2062											
TMEM132D	121256	broad.mit.edu	37	chr12	130184923	130184923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtagactttgtcccgcaGgatgtgggcttttagtttcc	6	14	12	9	1	0	1	0	0	0	1	2	2	2	2	2	3	0	4	2	3	2	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr12:130184923G>C	uc009zyl.1	-	1	728	c.400C>G	c.(400-402)Ctg>Gtg	p.L134V		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	134						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGTCCCGCAGGATGTGGGCT	0.537													C	130184923	G	C	130184923	3	2	34	1	0	0	0	0	1	0	0	0	16147	991	35	4	2931	4	TMEM132D	12	130184923	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	28664140	130184923	3666972	60	2063											
FLT1	2321	broad.mit.edu	37	chr13	28931760	28931760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgcagtgatagacacCttcatcctcttctgtgactc	7	14	8	12	0	3	3	1	2	2	1	5	3	4	3	2	1	1	2	2	1	1	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:28931760C>A	uc001usb.3	-	14	2464	c.2179G>T	c.(2179-2181)Ggt>Tgt	p.G727C		NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	727	Ig-like C2-type 7.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.G727C(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TGATAGACACCTTCATCCTCT	0.448													A	28931760	C	A	28931760	3	1	34	1	0	0	0	0	1	0	0	0	5990	681	24	4	1901	4	FLT1	13	28931760	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		28931760	86238118	61	2064											
ANKRD10	55608	broad.mit.edu	37	chr13	111532388	111532388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgagcggggtcgtggaggGgaagtccaaatgtccattga	10	8	16	7	2	0	2	0	2	0	0	3	4	2	4	2	5	1	0	2	5	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr13:111532388G>A	uc001vrn.3	-	5	994	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	ANKRD10_uc001vrm.3_Missense_Mutation_p.P24S|ANKRD10_uc001vrl.3_Non-coding_Transcript	NM_017664	NP_060134	Q9NXR5	ANR10_HUMAN	Homo sapiens ankyrin repeat domain 10 (ANKRD10), mRNA.	287										central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)	9	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		all cancers(43;0.0882)|BRCA - Breast invasive adenocarcinoma(86;0.188)|Lung(89;0.208)			GTCGTGGAGGGGAAGTCCAAA	0.473													A	111532388	G	A	111532388	3	1	34	1	0	0	0	0	1	0	0	0	638	1232	43	2	407	2	ANKRD10	13	111532388	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	82600628	111532388	3637490	62	2065											
TGM5	9333	broad.mit.edu	37	chr15	43552685	43552685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgaaggcctggccccGgcgaacaagcaggtggtcca	9	5	16	11	2	0	1	0	1	0	0	1	3	1	1	4	6	2	2	4	6	3	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:43552685G>A	uc001zrd.2	-	1	111	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	TGM5_uc001zre.2_Missense_Mutation_p.R35W	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	35					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)	GCCTGGCCCCGGCGAACAAGC	0.572													A	43552685	G	A	43552685	3	1	34	1	0	0	0	0	1	0	0	0	15933	1115	39	1	2107	1	TGM5	15	43552685	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08		43552685	58978707	63	2066											
PML	5371	broad.mit.edu	37	chr15	74315385	74315385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggccgcgcgcgtgcCgagaccgaggagctgatccg	6	4	17	14	7	0	2	0	1	0	1	1	5	1	3	4	2	3	2	4	2	0	0	rs112627818		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr15:74315385C>T	uc002awv.3	+	2	959	c.819C>T	c.(817-819)gcC>gcT	p.A273A	PML_uc002awj.1_Silent_p.A273A|PML_uc002awm.3_Silent_p.A273A|PML_uc002awl.3_Silent_p.A273A|PML_uc002awk.3_Silent_p.A273A|PML_uc002awn.3_Silent_p.A273A|PML_uc002awo.3_Silent_p.A273A|PML_uc002awp.3_Silent_p.A273A|PML_uc002awq.3_Silent_p.A273A|PML_uc002awr.3_Silent_p.A273A|PML_uc002aws.3_Silent_p.A273A|PML_uc002awt.3_Silent_p.A273A|PML_uc002awu.3_Silent_p.A273A|PML_uc010ule.2_Intron|PML_uc002aww.1_Silent_p.A188A|PML_uc002awx.3_Silent_p.A31A|PML_uc002awy.3_5'Flank	NM_033238	NP_150241	P29590	PML_HUMAN	Homo sapiens promyelocytic leukemia (PML), transcript variant 1, mRNA.	273					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	p.A273A(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GCGCGCGTGCCGAGACCGAGG	0.716			T	"RARA, PAX5"	"APL, ALL"								T	74315385	C	T	74315385	2	4	34	1	0	0	0	0	0	0	0	1	12212	639	23	1		1	PML	15	74315385	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	30762700	74315385	28216007	64	2067											
ZNF597	146434	broad.mit.edu	37	chr16	3490932	3490932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcctcaaagagtattggtCcctgaaacacaagagcctgt	13	9	9	10	0	1	3	1	1	0	2	3	4	3	3	3	1	2	1	3	1	4	2	rs139189056	byFrequency	TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:3490932C>A	uc002cvd.3	-	3	218	c.34_splice	c.e3-1	p.G12_splice	NAA60_uc002cvh.4_5'Flank|NAA60_uc010uxb.1_5'Flank	NM_152457	NP_689670	Q96LX8	ZN597_HUMAN	Homo sapiens zinc finger protein 597 (ZNF597), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTATTGGTCCCTGAAACAC	0.507													A	3490932	C	A	3490932	3	1	34	1	0	0	0	0	1	0	0	0	18128	869	30	4	1247	4	ZNF597	16	3490932	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		3490932	86863821	65	2068											
ACSM1	116285	broad.mit.edu	37	chr16	20702408	20702408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccatcttggggctccaaAttctgataaagaccggcagc	11	10	9	11	1	2	2	0	1	2	1	4	2	4	2	3	3	1	2	3	3	3	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:20702408A>G	uc002dhm.1	-	0	171	c.103T>C	c.(103-105)Ttt>Ctt	p.F35L	ACSM1_uc002dhn.1_Non-coding_Transcript|ACSM1_uc010bwg.1_Missense_Mutation_p.F35L	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	35					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGGGCTCCAAATTCTGATAAA	0.498													G	20702408	A	G	20702408	3	3	34	1	0	0	0	0	1	0	0	0	182	101	4	3	1682	3	ACSM1	16	20702408	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	17211476	20702408	69652345	66	2069											
VWA3A	146177	broad.mit.edu	37	chr16	22142922	22142922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtgggccctgaacctgCggtgtcggggcagcaggaac	7	5	18	11	2	0	1	0	1	0	0	1	2	0	2	2	6	4	3	2	6	2	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:22142922C>T	uc010vbq.2	+	18	1840	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R590W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	582	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCTGAACCTGCGGTGTCGGGG	0.577													T	22142922	C	T	22142922	3	4	34	1	0	0	0	0	1	0	0	0	17342	759	27	1	1818	1	VWA3A	16	22142922	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	1440514	22142922	68211831	67	2070											
CD19	930	broad.mit.edu	37	chr16	28948983	28948983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggatgaagagctgacccagCcggtcgccaggacaatgggt	11	5	15	10	2	0	3	0	2	0	1	1	5	0	5	3	4	2	1	3	4	2	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr16:28948983C>T	uc010byo.2	+	10	1473	c.1411C>T	c.(1411-1413)Ccg>Tcg	p.P471S	NPIPL1_uc010vct.2_Intron|CD19_uc002drs.3_Missense_Mutation_p.P471S	NM_001178098	NP_001171569	P15391	CD19_HUMAN	Homo sapiens CD19 molecule (CD19), transcript variant 1, mRNA.	471					cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						GCTGACCCAGCCGGTCGCCAG	0.577													T	28948983	C	T	28948983	3	4	34	1	0	0	0	0	1	0	0	0	3003	739	26	2	1453	2	CD19	16	28948983	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	6806061	28948983	61405770	68	2071											
MYBBP1A	10514	broad.mit.edu	37	chr17	4455265	4455265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcagcaggggcagggcCgcgcccagcaggcggaaaca	9	3	17	12	3	1	0	1	0	0	0	1	1	1	1	2	6	3	3	2	6	1	1	rs149464957		TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:4455265C>T	uc002fxz.4	-	7	995	c.933G>A	c.(931-933)gcG>gcA	p.A311A	MYBBP1A_uc002fyb.4_Silent_p.A311A	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	311	Interaction with MYB (By similarity).				nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGGGCAGGGCCGCGCCCAGCA	0.632													T	4455265	C	T	4455265	2	4	34	1	0	0	0	0	0	0	0	1	10084	639	23	1		1	MYBBP1A	17	4455265	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08		4455265	76739945	69	2072											
DVL2	1856	broad.mit.edu	37	chr17	7132476	7132476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagcatgtcccctggcTcaatgcgcccgtcggccgcc	7	6	11	17	4	1	0	1	0	0	0	3	0	2	0	5	2	2	3	5	2	3	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7132476T>C	uc002gez.1	-	7	1217	c.935A>G	c.(934-936)gAg>gGg	p.E312G	DVL2_uc010vtr.1_Missense_Mutation_p.E306G|DVL2_uc010vts.1_3'UTR	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	312	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						GTCCCCTGGCTCAATGCGCCC	0.637													C	7132476	T	C	7132476	3	2	34	1	0	0	0	0	1	0	0	0	4875	1551	54	3	1307	3	DVL2	17	7132476	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	2677211	7132476	74062734	70	2073											
DNAH2	146754	broad.mit.edu	37	chr17	7674216	7674216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaggttattgagatgAttctcacagtgcagcgtcag	9	14	12	6	1	2	2	2	2	1	1	3	4	2	3	0	2	2	2	0	2	1	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:7674216A>T	uc002giu.1	+	25	4341	c.4327A>T	c.(4327-4329)Att>Ttt	p.I1443F		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1443	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATTGAGATGATTCTCACAGT	0.493													T	7674216	A	T	7674216	3	4	34	1	0	0	0	0	1	0	0	0	4641	333	12	5	4429	5	DNAH2	17	7674216	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	541740	7674216	73520994	71	2074											
DNAH9	1770	broad.mit.edu	37	chr17	11523026	11523026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaaccaggaagtcaaGgaatgggatttccagtcttc	15	8	11	7	0	2	1	1	0	1	1	4	5	3	4	2	3	1	0	2	3	5	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:11523026G>T	uc002gne.3	+	5	1346	c.1278G>T	c.(1276-1278)aaG>aaT	p.K426N		NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	426	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGGAAGTCAAGGAATGGGATT	0.502													T	11523026	G	T	11523026	3	4	34	1	0	0	0	0	1	0	0	0	4647	991	35	4	1300	4	DNAH9	17	11523026	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	3848810	11523026	69672184	72	2075											
FOXN1	8456	broad.mit.edu	37	chr17	26861357	26861357	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccggcagacagcaccCgatggctggaagaattctgt	9	9	12	11	2	1	2	0	0	1	2	2	4	2	3	2	3	1	4	2	3	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:26861357C>T	uc010crm.3	+	6	1134	c.936C>T	c.(934-936)ccC>ccT	p.P312P	FOXN1_uc002hbj.3_Silent_p.P312P	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	312					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGACAGCACCCGATGGCTGGA	0.552													T	26861357	C	T	26861357	2	4	34	1	0	0	0	0	0	0	0	1	6070	639	23	1		1	FOXN1	17	26861357	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	15338331	26861357	54333853	73	2076											
SLFN13	146857	broad.mit.edu	37	chr17	33768202	33768202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactggtctgaaagtagtcCagaaagatccagagaactcc	14	8	10	9	0	1	5	0	2	1	3	4	6	4	5	3	1	1	1	3	1	4	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr17:33768202C>T	uc002hjk.1	-	3	2436	c.2106G>A	c.(2104-2106)ctG>ctA	p.L702L	SLFN13_uc010wch.1_Silent_p.L702L|SLFN13_uc002hjl.2_Silent_p.L702L|SLFN13_uc002hjm.2_Silent_p.L371L|SLFN13_uc010ctt.2_Silent_p.L384L	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	702						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAAAGTAGTCCAGAAAGATCC	0.483													T	33768202	C	T	33768202	2	4	34	1	0	0	0	0	0	0	0	1	14830	581	21	2		2	SLFN13	17	33768202	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	6906845	33768202	47427008	74	2077											
MYOM1	8736	broad.mit.edu	37	chr18	3067533	3067533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcgggtctccccacacGttgcaagtgagattaagggc	9	7	15	10	2	1	1	0	1	1	1	2	3	1	2	2	4	1	2	2	4	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:3067533G>A	uc002klp.3	-	37	5119	c.4785C>T	c.(4783-4785)aaC>aaT	p.N1595N	MYOM1_uc002klq.3_Silent_p.N1499N	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	1595	Ig-like C2-type 5.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTCCCCACACGTTGCAAGTGA	0.537													A	3067533	G	A	3067533	2	1	34	1	0	0	0	0	0	0	0	1	10167	1136	40	1		1	MYOM1	18	3067533	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08		3067533	75009715	75	2078											
ROCK1	6093	broad.mit.edu	37	chr18	18533573	18533573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttttgaccactttccGgaaagactgatttgcagtgg	9	15	10	7	1	0	3	0	2	0	1	1	4	1	4	2	2	1	2	2	2	2	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:18533573G>A	uc002kte.3	-	31	4968	c.4027C>T	c.(4027-4029)Cgg>Tgg	p.R1343W		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1343	Auto-inhibitory.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ACCACTTTCCGGAAAGACTGA	0.358													A	18533573	G	A	18533573	3	1	34	1	0	0	0	0	1	0	0	0	13608	1115	39	1	45	1	ROCK1	18	18533573	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	15466040	18533573	59543675	76	2079											
DSC3	1825	broad.mit.edu	37	chr18	28598687	28598687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctgttactgttatgataCaagttgatgtgcctatcaat	12	16	7	6	0	2	2	1	2	1	0	2	2	2	2	1	0	3	3	1	0	7	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:28598687C>A	uc002kwj.4	-	7	1177	c.1022G>T	c.(1021-1023)tGt>tTt	p.C341F	DSC3_uc002kwi.4_Missense_Mutation_p.C341F	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	341	Cadherin 2.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTTATGATACAAGTTGATGT	0.338													A	28598687	C	A	28598687	3	1	34	1	0	0	0	0	1	0	0	0	4806	478	17	4	1735	4	DSC3	18	28598687	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	10065114	28598687	49478561	77	2080											
NETO1	81832	broad.mit.edu	37	chr18	70417298	70417298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctattgatactgaccGctggacggctttatcgtgtc	10	13	9	9	3	1	2	0	2	1	0	3	3	1	3	1	2	1	2	1	2	5	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr18:70417298G>A	uc002lkw.3	-	9	1825	c.1541_splice	c.e9+1	p.R514_splice	NETO1_uc002lky.2_Splice_Site_p.R514_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	514					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GATACTGACCGCTGGACGGCT	0.433													A	70417298	G	A	70417298	3	1	34	1	0	0	0	0	1	0	0	0	10415	1101	38	1	69	1	NETO1	18	70417298	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	41818611	70417298	7659950	78	2081											
CHAF1A	10036	broad.mit.edu	37	chr19	4433232	4433232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccacccccagcgaggatgCcgccatcccctctaagtccc	7	5	7	22	2	1	0	0	0	1	0	3	2	3	1	9	1	2	0	9	1	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:4433232C>T	uc002mal.3	+	12	2469	c.2369C>T	c.(2368-2370)gCc>gTc	p.A790V		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	790	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCGAGGATGCCGCCATCCCC	0.652								Chromatin Structure					T	4433232	C	T	4433232	3	4	34	1	0	0	0	0	1	0	0	0	3341	739	26	2	2419	2	CHAF1A	19	4433232	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		4433232	54695751	79	2082											
MUC16	94025	broad.mit.edu	37	chr19	9069201	9069201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcatcaccagggcggtgCtgtcctctttcagttcagga	7	12	11	11	1	5	0	4	0	1	0	6	1	6	1	2	3	1	3	2	3	0	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:9069201C>T	uc002mkp.3	-	2	18449	c.18245G>A	c.(18244-18246)aGc>aAc	p.S6082N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6084	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						CAGGGCGGTGCTGTCCTCTTT	0.498													T	9069201	C	T	9069201	3	4	34	1	0	0	0	0	1	0	0	0	10049	797	28	2	25606	2	MUC16	19	9069201	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	4635969	9069201	50059782	80	2083											
CALR	811	broad.mit.edu	37	chr19	13051173	13051173	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacgattgggacttcctGccacccaagaagataaagga	15	6	11	9	1	0	3	0	0	0	3	1	7	1	5	3	2	1	0	3	2	5	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13051173G>T	uc002mvu.2	+	4	689	c.609G>T	c.(607-609)ctG>ctT	p.L203L		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	203	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACTTCCTGCCACCCAAGA	0.532													T	13051173	G	T	13051173	2	4	34	1	0	0	0	0	0	0	0	1	2618	1306	46	4		4	CALR	19	13051173	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	3981972	13051173	46077810	81	2084											
CACNA1A	773	broad.mit.edu	37	chr19	13340971	13340971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccaggatggaggagtctCgggtgaggtactcaaagttg	9	8	17	7	1	2	1	1	1	1	0	3	4	2	4	1	6	1	2	1	6	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:13340971C>T	uc002mwy.3	-	35	5689	c.5453G>A	c.(5452-5454)cGa>cAa	p.R1818Q	CACNA1A_uc002mwx.3_Missense_Mutation_p.R524Q|CACNA1A_uc010dzc.2_Missense_Mutation_p.R1344Q|CACNA1A_uc010xnd.2_Missense_Mutation_p.R1821Q|CACNA1A_uc021ups.1_Missense_Mutation_p.R1818Q|CACNA1A_uc010xne.2_Missense_Mutation_p.R1821Q|CACNA1A_uc010dze.2_Missense_Mutation_p.R1818Q|CACNA1A_uc021upt.1_Missense_Mutation_p.R1819Q|CACNA1A_uc002mwv.3_Missense_Mutation_p.R335Q	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1819					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	p.L1817V(1)		breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGGAGTCTCGGGTGAGGTA	0.597													T	13340971	C	T	13340971	3	4	34	1	0	0	0	0	1	0	0	0	2564	884	31	1	2216	1	CACNA1A	19	13340971	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	289798	13340971	45788012	82	2085											
ZNF681	148213	broad.mit.edu	37	chr19	23927348	23927348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacatttgtagggtttcTctccagtatgaattatctta	9	18	6	8	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	5	7			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:23927348T>C	uc002nrk.4	-	3	1146	c.1004A>G	c.(1003-1005)gAg>gGg	p.E335G	ZNF681_uc002nrl.4_Missense_Mutation_p.E266G|ZNF681_uc002nrj.4_Missense_Mutation_p.E266G	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTAGGGTTTCTCTCCAGTATG	0.393													C	23927348	T	C	23927348	3	2	34	1	0	0	0	0	1	0	0	0	18189	1551	54	3	937	3	ZNF681	19	23927348	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	10586377	23927348	35201635	83	2086											
CAPNS1	826	broad.mit.edu	37	chr19	36633602	36633602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccaacgagagtgaggagGtccggcagttccggagactc	10	5	16	10	3	0	3	0	1	0	2	3	6	2	4	3	5	1	2	3	5	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:36633602G>T	uc002odi.1	+	3	449	c.292G>T	c.(292-294)Gtc>Ttc	p.V98F	CAPNS1_uc002odk.3_Missense_Mutation_p.V98F|CAPNS1_uc002odj.3_Missense_Mutation_p.V98F|CAPNS1_uc002odl.3_Missense_Mutation_p.V98F	NM_001749	NP_001740	P04632	CPNS1_HUMAN	Homo sapiens calpain, small subunit 1 (CAPNS1), transcript variant 1, mRNA.	98	EF-hand 1; atypical.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GAGTGAGGAGGTCCGGCAGTT	0.622													T	36633602	G	T	36633602	3	4	34	1	0	0	0	0	1	0	0	0	2659	1261	44	4	302	4	CAPNS1	19	36633602	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	12706254	36633602	22495381	84	2087											
CEACAM4	1089	broad.mit.edu	37	chr19	42132051	42132051	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagggtgtaggatcctgcGtcctccagggtgatgttttg	5	13	15	8	2	0	1	0	1	0	0	3	2	3	2	3	3	1	3	3	3	2	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:42132051G>A	uc010xwd.1	-	1	459	c.348C>T	c.(346-348)gaC>gaT	p.D116D	CEACAM4_uc002orh.1_Silent_p.D116D	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	116	Ig-like V-type.					integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						AGGATCCTGCGTCCTCCAGGG	0.522													A	42132051	G	A	42132051	2	1	34	1	0	0	0	0	0	0	0	1	3224	1136	40	1		1	CEACAM4	19	42132051	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	5498449	42132051	16996932	85	2088											
ZNF229	7772	broad.mit.edu	37	chr19	44933285	44933285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatggatgtggaggtcGgagctccggccaaagctctt	7	10	14	10	2	2	1	0	1	2	0	4	4	3	4	2	5	2	2	2	5	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:44933285G>A	uc002oze.1	-	5	2105	c.1671C>T	c.(1669-1671)tcC>tcT	p.S557S	ZNF229_uc010ejk.1_Silent_p.S211S|ZNF229_uc010ejl.1_Silent_p.S551S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	557					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TGTGGAGGTCGGAGCTCCGGC	0.542													A	44933285	G	A	44933285	2	1	34	1	0	0	0	0	0	0	0	1	17883	1103	39	1		1	ZNF229	19	44933285	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	2801234	44933285	14195698	86	2089											
CEACAM20	125931	broad.mit.edu	37	chr19	45021184	45021184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagcacctggcttggactCggcccaacactgcagggtca	8	7	11	15	1	2	0	2	0	0	0	3	1	2	1	2	4	3	3	2	4	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:45021184C>T	uc010ejn.1	-	5	1148	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	CEACAM20_uc010ejo.1_Missense_Mutation_p.E378K|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	378	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGCTTGGACTCGGCCCAACAC	0.582													T	45021184	C	T	45021184	3	4	34	1	0	0	0	0	1	0	0	0	3221	893	31	1	687	1	CEACAM20	19	45021184	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	87899	45021184	14107799	87	2090											
LIG1	3978	broad.mit.edu	37	chr19	48668866	48668866	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccagcacttttcttcGtctgtcagctgctcctggaa	5	14	8	14	1	3	0	1	0	2	0	6	1	5	1	3	1	3	3	3	1	1	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:48668866G>A	uc002pia.1	-	1					LIG1_uc002phz.1_Non-coding_Transcript|LIG1_uc002pib.1_Non-coding_Transcript|LIG1_uc010xzf.1_5'UTR|LIG1_uc010xzg.1_5'UTR|LIG1_uc010xzh.1_Non-coding_Transcript	NM_000234	NP_000225	P18858	DNLI1_HUMAN	Homo sapiens ligase I, DNA, ATP-dependent (LIG1), mRNA.						anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	ACTTTTCTTCGTCTGTCAGCT	0.463								Nucleotide excision repair (NER)					A	48668866	G	A	48668866	1	1	34	1	0	0	0	0	0	0	0	0	8841	1160	40	1		1	LIG1	19	48668866	Translation_Start_Site	SNP	G	TCGA-06-0173-01A-01D-1491-08	3647682	48668866	10460117	88	2091											
LILRB5	10990	broad.mit.edu	37	chr19	54756388	54756388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggctctggccccgcaGcccctgcaggacggtagaaa	7	6	13	15	2	1	1	0	0	1	1	1	2	1	2	5	4	2	4	5	4	2	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54756388G>T	uc010yer.1	-	9	1583	c.1472C>A	c.(1471-1473)gCt>gAt	p.A491D	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Missense_Mutation_p.A500D|LILRB5_uc002qez.3_Missense_Mutation_p.A400D|LILRB5_uc002qex.3_Missense_Mutation_p.A499D|LILRB5_uc002qfa.1_3'UTR			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	499					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity	p.A499V(1)|p.A491V(1)|p.S490T(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGCCCCGCAGCCCCTGCAGG	0.607													T	54756388	G	T	54756388	3	4	34	1	0	0	0	0	1	0	0	0	8854	971	34	4	292	4	LILRB5	19	54756388	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	6087522	54756388	4372595	89	2092											
LENG8	114823	broad.mit.edu	37	chr19	54967619	54967619	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccatatggatcggggcCgaggcagggcgcagcgtggg	6	4	21	10	4	0	0	0	0	0	0	1	2	0	1	2	7	1	2	2	7	1	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:54967619C>A	uc002qfv.1	+	8	1453	c.1309C>A	c.(1309-1311)Cga>Aga	p.R437R	LENG8_uc002qfw.2_Silent_p.R474R			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	437							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		GGATCGGGGCCGAGGCAGGGC	0.682													A	54967619	C	A	54967619	2	1	34	1	0	0	0	0	0	0	0	1	8783	644	23	4		4	LENG8	19	54967619	Silent	SNP	C	TCGA-06-0173-01A-01D-1491-08	211231	54967619	4161364	90	2093											
LILRB1	10859	broad.mit.edu	37	chr19	55146733	55146733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagctgccgatgcccAggaagaaaacctctgtgagt	11	6	11	13	1	1	2	0	1	1	1	1	4	1	3	4	1	5	1	4	1	3	0			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:55146733A>G	uc002qgj.3	+	12	1923	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	LILRB1_uc010erp.1_Missense_Mutation_p.Q143R|LILRB1_uc002qgl.3_Missense_Mutation_p.Q528R|LILRB1_uc002qgk.3_Missense_Mutation_p.Q529R|LILRB1_uc002qgm.3_Missense_Mutation_p.Q529R|LILRB1_uc010erq.3_Missense_Mutation_p.Q512R|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	528					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GCCGATGCCCAGGAAGAAAAC	0.612										HNSCC(37;0.09)			G	55146733	A	G	55146733	3	3	34	1	0	0	0	0	1	0	0	0	8850	188	7	3	1628	3	LILRB1	19	55146733	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	179114	55146733	3982250	91	2094											
GALP	85569	broad.mit.edu	37	chr19	56691958	56691958	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctctatccagggaCgaggaggctggaccctcaat	9	9	11	12	1	3	0	1	0	2	0	5	4	4	3	2	4	1	2	2	4	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr19:56691958C>T	uc002qmo.1	+	2	173	c.91C>T	c.(91-93)Cga>Tga	p.R31*	GALP_uc010eti.2_Intron	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN	Homo sapiens galanin-like peptide (GALP), transcript variant 1, mRNA.	31					neuropeptide signaling pathway	extracellular region	hormone activity			lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		TATCCAGGGACGAGGAGGCTG	0.602													T	56691958	C	T	56691958	4	4	34	1	0	0	0	0	0	1	0	0	6280	528	19	1	97	1	GALP	19	56691958	Nonsense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	1545225	56691958	2437025	92	2095											
SDC4	6385	broad.mit.edu	37	chr20	43977015	43977016	+	Frame_Shift_Ins	INS	-	-	G																															agcagcgcgaacagacgggcINSgggggccatggcaccgcgga																										TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:43977015_43977016insG	uc002xnu.3	-	0	49_50	c.9_10insC	c.(7-12)cccgccfs	p.P3fs	SDC4_uc010zws.2_5'UTR	NM_002999	NP_002990	P31431	SDC4_HUMAN	Homo sapiens syndecan 4 (SDC4), mRNA.	3						extracellular region|integral to plasma membrane	cytoskeletal protein binding|thrombospondin receptor activity		SDC4/ROS1(7)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)	5		Myeloproliferative disorder(115;0.0122)				AACAGACGGGCGGGGGCCATGG	0.752			T	ROS1	NSCLC								G	43977016	-	G	43977015	7	5	34	1	0	1	1	0	0	0	0	0	14047	768	27	0	606	0	SDC4	20	43977015	Frame_Shift_Ins	INS	-	TCGA-06-0173-01A-01D-1491-08		43977015	19048505	93	2096											
PARD6B	84612	broad.mit.edu	37	chr20	49366649	49366649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcataacagtgagacCggcaaaccagaggaataatg	16	6	9	10	1	2	2	2	1	0	2	2	4	2	3	3	2	2	1	3	2	4	2			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:49366649C>T	uc002xvo.3	+	2	986	c.743C>T	c.(742-744)cCg>cTg	p.P248L		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	248	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ACAGTGAGACCGGCAAACCAG	0.443													T	49366649	C	T	49366649	3	4	34	1	0	0	0	0	1	0	0	0	11522	652	23	1	753	1	PARD6B	20	49366649	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08	5389634	49366649	13658871	94	2097											
RTEL1	51750	broad.mit.edu	37	chr20	62316891	62316891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcagattgtgttcagtgtgGacccctccgagggcagccct	6	11	12	12	1	2	1	2	0	0	1	3	3	3	2	4	2	1	2	4	2	0	3			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr20:62316891G>A	uc021wge.1	+	13	1377	c.1207G>A	c.(1207-1209)Gac>Aac	p.D403N	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.D403N|RTEL1_uc011abd.2_Missense_Mutation_p.D427N|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.D180N	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	403					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GTTCAGTGTGGACCCCTCCGA	0.627													A	62316891	G	A	62316891	3	1	34	1	0	0	0	0	1	0	0	0	13811	1174	41	2	1261	2	RTEL1	20	62316891	Missense_Mutation	SNP	G	TCGA-06-0173-01A-01D-1491-08	12950242	62316891	708629	95	2098											
TXNRD2	10587	broad.mit.edu	37	chr22	19870868	19870868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccacgtcaccaatggCgtagatgtggggcacagagg	10	6	13	12	2	1	2	1	0	0	2	2	2	2	2	3	4	0	2	3	4	2	1			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chr22:19870868C>T	uc021wlj.1	-	11	1099	c.1066G>A	c.(1066-1068)Gcc>Acc	p.A356T	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.A355T|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_5'Flank	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	356					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCACCAATGGCGTAGATGTGG	0.647													T	19870868	C	T	19870868	3	4	34	1	0	0	0	0	1	0	0	0	16910	768	27	1	532	1	TXNRD2	22	19870868	Missense_Mutation	SNP	C	TCGA-06-0173-01A-01D-1491-08		19870868	31433698	96	2099											
NDUFB11	54539	broad.mit.edu	37	chrX	47001797	47001797	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggccattggcctctcggtaTttcacaagcctctcagcttc	7	12	8	14	1	3	0	2	0	2	0	6	0	3	0	3	3	2	2	3	3	2	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:47001797T>C	uc004dhc.3	-	2	942	c.411A>G	c.(409-411)aaA>aaG	p.K137K	NDUFB11_uc004dhd.3_Silent_p.K127K|RBM10_uc004dhe.2_5'Flank|RBM10_uc004dhf.3_5'Flank|RBM10_uc004dhi.3_5'Flank|RBM10_uc004dhh.3_5'Flank|RBM10_uc010nhq.3_5'Flank|RBM10_uc004dhg.3_5'Flank	NM_019056	NP_061929	Q9NX14	NDUBB_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa (NDUFB11), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						CCTCTCGGTATTTCACAAGCC	0.552													C	47001797	T	C	47001797	2	2	34	1	0	0	0	0	0	0	0	1	10356	1490	52	3		3	NDUFB11	23	47001797	Silent	SNP	T	TCGA-06-0173-01A-01D-1491-08		47001797	108268763	97	2100											
GATA1	2623	broad.mit.edu	37	chrX	48652346	48652346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctttatggtggtggctggGggcagcggtagcgggaattg	5	10	21	5	2	0	0	0	0	0	0	0	1	0	1	0	8	2	4	0	8	3	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:48652346G>A	uc004dkq.4	+	5	1108	c.1017G>A	c.(1015-1017)ggG>ggA	p.G339G		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	339					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						TGGTGGCTGGGGGCAGCGGTA	0.627			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								A	48652346	G	A	48652346	2	1	34	1	0	0	0	0	0	0	0	1	6307	1219	43	2		2	GATA1	23	48652346	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	1650549	48652346	106618214	98	2101											
YIPF6	286451	broad.mit.edu	37	chrX	67742719	67742719	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgtaaacttcatggttcgGctttttgtggtgattgtgat	6	18	11	6	1	1	2	1	2	0	0	2	2	1	2	1	3	1	3	1	3	2	6			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:67742719G>T	uc004dwz.3	+	5	837	c.552G>T	c.(550-552)cgG>cgT	p.R184R	YIPF6_uc011mph.2_Silent_p.R141R	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	184						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						TCATGGTTCGGCTTTTTGTGG	0.408													T	67742719	G	T	67742719	2	4	34	1	0	0	0	0	0	0	0	1	17584	1190	42	4		4	YIPF6	23	67742719	Silent	SNP	G	TCGA-06-0173-01A-01D-1491-08	19090373	67742719	87527841	99	2102											
CDX4	1046	broad.mit.edu	37	chrX	72667262	72667262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactatatggggtatcctcAtatgcccagcatggatcctc	9	11	9	12	0	1	0	1	0	0	0	4	1	3	1	3	3	2	3	3	3	4	4			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:72667262A>G	uc011mqk.2	+	0	173	c.173A>G	c.(172-174)cAt>cGt	p.H58R		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	58						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGGTATCCTCATATGCCCAGC	0.632													G	72667262	A	G	72667262	3	3	34	1	0	0	0	0	1	0	0	0	3214	217	8	3	175	3	CDX4	23	72667262	Missense_Mutation	SNP	A	TCGA-06-0173-01A-01D-1491-08	4924543	72667262	82603298	100	2103											
CPXCR1	53336	broad.mit.edu	37	chrX	88009244	88009244	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaataatggttggaaatacTtttgtcccatctgtggaagg	11	13	10	7	0	1	0	0	0	1	0	2	2	2	2	2	4	1	1	2	4	5	5			TCGA-06-0173-01A-01D-1491-08	TCGA-06-0173-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0908aac1-d3b7-4eec-96f2-a28c3738388c	ef93fb90-a2ac-473c-aa3d-66ccd0a4f147	g.chrX:88009244T>C	uc022bzq.1	+	0	829	c.829T>C	c.(829-831)Ttt>Ctt	p.F277L	CPXCR1_uc004efd.4_Missense_Mutation_p.F277L|CPXCR1_uc004efc.4_Missense_Mutation_p.F277L	NM_033048	NP_149037	Q8N123	CPXCR_HUMAN	Homo sapiens CPX chromosome region, candidate 1 (CPXCR1), transcript variant 1, mRNA.	277						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTGGAAATACTTTTGTCCCAT	0.299													C	88009244	T	C	88009244	3	2	34	1	0	0	0	0	1	0	0	0	3867	1609	56	3	831	3	CPXCR1	23	88009244	Missense_Mutation	SNP	T	TCGA-06-0173-01A-01D-1491-08	15341982	88009244	67261316	101	2104											
TNFRSF4	7293	broad.mit.edu	37	chr1	1149465	1149465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggcccaggaggagcagagCcgcacacggcccgcggccca	9	0	15	17	4	0	1	0	0	0	1	0	3	0	3	4	5	2	2	4	5	0	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:1149465C>T	uc001adf.3	-	0					TNFRSF4_uc001ade.3_Missense_Mutation_p.A15T			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.						immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGGAGCAGAGCCGCACACGGC	0.692													T	1149465	C	T	1149465	3	4	35	1	0	0	0	0	1	0	0	0	16397	739	26	2	818	2	TNFRSF4	1	1149465	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		1149465	248101156	1	2105											
SLC25A34	284723	broad.mit.edu	37	chr1	16065774	16065775	+	Frame_Shift_Ins	INS	-	-	C																															aagatctggcggcaggagggINSccccctggcactctacaagg																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:16065774_16065775insC	uc001axb.1	+	4	960_961	c.788_789insC	c.(787-789)ggcfs	p.G263fs		NM_207348	NP_997231	Q6PIV7	S2534_HUMAN	Homo sapiens solute carrier family 25, member 34 (SLC25A34), mRNA.	263					transport	integral to membrane|mitochondrial inner membrane				NS(1)|breast(1)|endometrium(3)|large_intestine(1)|lung(2)|skin(1)	9		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGGAGGGCCCCCTGGCAC	0.649													C	16065775	-	C	16065774	7	5	35	1	0	1	1	0	0	0	0	0	14592	1203	42	0	806	0	SLC25A34	1	16065774	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08	14916309	16065774	233184847	2	2106											
C1orf201	90529	broad.mit.edu	37	chr1	24710467	24710467	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgactggtgaataacattGtagaacccaggtcctgggat	11	10	13	7	0	0	3	0	2	0	1	1	4	1	4	2	4	2	1	2	4	4	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:24710467G>T	uc001bjc.3	-	3	383	c.216C>A	c.(214-216)taC>taA	p.Y72*	C1orf201_uc001bjb.3_5'UTR|C1orf201_uc001bja.3_Nonsense_Mutation_p.Y25*|C1orf201_uc001bjd.3_Nonsense_Mutation_p.Y72*|C1orf201_uc001bjf.3_5'UTR	NM_001199013	NP_001185942	Q5TH74	CA201_HUMAN	Homo sapiens chromosome 1 open reading frame 201 (C1orf201), transcript variant 1, mRNA.	72										breast(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	15		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0191)|all_lung(284;0.0251)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.056)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.48e-25)|Colorectal(126;7.29e-08)|COAD - Colon adenocarcinoma(152;3.85e-06)|GBM - Glioblastoma multiforme(114;0.000399)|BRCA - Breast invasive adenocarcinoma(304;0.00107)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00393)|READ - Rectum adenocarcinoma(331;0.0672)|Lung(427;0.145)		GAATAACATTGTAGAACCCAG	0.438													T	24710467	G	T	24710467	4	4	35	1	0	0	0	0	0	1	0	0	2047	1372	48	4	812	4	C1orf201	1	24710467	Nonsense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	8644693	24710467	224540154	3	2107											
LEPRE1	64175	broad.mit.edu	37	chr1	43213879	43213879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcactcacctgtagtcGcggaaggtgtaggctggggg	6	7	16	12	3	1	0	1	0	0	0	2	1	1	1	3	5	0	4	3	5	3	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:43213879G>A	uc001chx.4	-	11	1943	c.1830C>T	c.(1828-1830)cgC>cgT	p.R610R	LEPRE1_uc001chw.2_Silent_p.R610R|LEPRE1_uc001chv.2_Silent_p.R610R	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	610	Fe2OG dioxygenase.				negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCTGTAGTCGCGGAAGGTGT	0.602													A	43213879	G	A	43213879	2	1	35	1	0	0	0	0	0	0	0	1	8788	1074	38	1		1	LEPRE1	1	43213879	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	18503412	43213879	206036742	4	2108											
TOE1	114034	broad.mit.edu	37	chr1	45808763	45808764	+	Frame_Shift_Ins	INS	-	-	G																															ccacccctaggcttatggctINSggtgccccctgggaccacag																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:45808763_45808764insG	uc009vxq.3	+	7	1505_1506	c.922_923insG	c.(922-924)tggfs	p.W308fs	MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Frame_Shift_Ins_p.W228fs|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	308						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GGCTTATGGCTGGTGCCCCCTG	0.569													G	45808764	-	G	45808763	7	5	35	1	0	1	1	0	0	0	0	0	16449	1580	55	0	952	0	TOE1	1	45808763	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08	2594884	45808763	203441858	5	2109											
GIPC2	54810	broad.mit.edu	37	chr1	78560730	78560730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatattgttgggtggcGtcactatgatgttgctaaga	12	13	12	4	1	1	3	1	1	0	2	1	3	1	3	0	2	1	3	0	2	5	6	rs143579527		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:78560730G>A	uc001dik.3	+	2	711	c.521G>A	c.(520-522)cGt>cAt	p.R174H	5S_rRNA_uc021oov.1_5'Flank	NM_017655	NP_060125	Q8TF65	GIPC2_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 2 (GIPC2), mRNA.	174	PDZ.					cytoplasm				endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)	20						GTTGGGTGGCGTCACTATGAT	0.348													A	78560730	G	A	78560730	3	1	35	1	0	0	0	0	1	0	0	0	6449	1145	40	1	531	1	GIPC2	1	78560730	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	32751967	78560730	170689891	6	2110											
POLR3C	10623	broad.mit.edu	37	chr1	145594170	145594170	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggcttctaccctctgAgatttttctagtagacgcct	8	15	8	10	1	3	3	0	2	3	2	3	4	3	3	2	1	1	2	2	1	3	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:145594170A>T	uc001eog.3	-	13	1474	c.1431T>A	c.(1429-1431)tcT>tcA	p.S477S	POLR3C_uc001eoh.3_Silent_p.S464S|POLR3C_uc009wix.3_Intron	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	464					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			CTACCCTCTGAGATTTTTCTA	0.478													T	145594170	A	T	145594170	2	4	35	1	0	0	0	0	0	0	0	1	12307	291	11	5		5	POLR3C	1	145594170	Silent	SNP	A	TCGA-06-0174-01A-01D-1491-08	67033440	145594170	103656451	7	2111											
VPS72	6944	broad.mit.edu	37	chr1	151162515	151162515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagtcgtctggtagaacTcatcttcctcctctgcctcc	7	13	6	15	1	4	1	1	0	3	1	8	1	7	1	4	1	2	1	4	1	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:151162515T>C	uc001exe.1	-	0	126	c.83A>G	c.(82-84)gAg>gGg	p.E28G	VPS72_uc001exf.1_Missense_Mutation_p.E28G	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	28	Asp/Glu-rich (acidic).				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGGTAGAACTCATCTTCCTC	0.612													C	151162515	T	C	151162515	3	2	35	1	0	0	0	0	1	0	0	0	17319	1551	54	3	1035	3	VPS72	1	151162515	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	5568345	151162515	98088106	8	2112											
LRRC52	440699	broad.mit.edu	37	chr1	165532851	165532851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcacctggaccacaaagaCtacatcttcctgctgctcat	11	9	6	15	1	2	1	1	0	1	1	3	2	3	2	3	1	3	3	3	1	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:165532851C>A	uc001gde.2	+	1	788	c.732C>A	c.(730-732)gaC>gaA	p.D244E	LOC400794_uc001gdc.2_Intron|LOC400794_uc001gdd.2_Intron|LOC400794_uc009wvd.3_Intron	NM_001005214	NP_001005214	Q8N7C0	LRC52_HUMAN	Homo sapiens leucine rich repeat containing 52 (LRRC52), mRNA.	244						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					ACCACAAAGACTACATCTTCC	0.602													A	165532851	C	A	165532851	3	1	35	1	0	0	0	0	1	0	0	0	9080	564	20	4	738	4	LRRC52	1	165532851	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	14370336	165532851	83717770	9	2113											
SELE	6401	broad.mit.edu	37	chr1	169698757	169698757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgggaagcttccagggTtttggaaacattccacgaac	11	10	10	10	1	0	0	0	0	0	0	3	3	3	2	3	3	3	2	3	3	3	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr1:169698757T>C	uc001ggm.4	-	5	930	c.773A>G	c.(772-774)aAc>aGc	p.N258S	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	258	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCTTCCAGGGTTTTGGAAACA	0.438													C	169698757	T	C	169698757	3	2	35	1	0	0	0	0	1	0	0	0	14106	1725	60	3	1091	3	SELE	1	169698757	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	4165906	169698757	79551864	10	2114											
XDH	7498	broad.mit.edu	37	chr2	31595165	31595165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtagcgaggaatgtcGtcacagtacacggcctcacc	9	9	10	13	4	3	0	2	0	1	0	5	2	3	1	2	2	2	2	2	2	3	3	rs140066757		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:31595165G>A	uc002rnv.1	-	16	1864	c.1785C>T	c.(1783-1785)gaC>gaT	p.D595D		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	595					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAGGAATGTCGTCACAGTACA	0.647													A	31595165	G	A	31595165	2	1	35	1	0	0	0	0	0	0	0	1	17528	1136	40	1		1	XDH	2	31595165	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08		31595165	211604208	11	2115											
STRN	6801	broad.mit.edu	37	chr2	37121134	37121153	+	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	CTCGATCTTCACCGCTGTCA	-																															ctttagagcttcttttgtatCtcgatcttcaccgctgtcag																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:37121134_37121153delCTCGATCTTCACCGCTGTCA	uc002rpn.3	-	6	828_847	c.819_838delTGACAGCGGTGAAGATCGAG	c.(817-840)cctgacagcggtgaagatcgagatfs	p.P273fs	STRN_uc010ezx.3_Frame_Shift_Del_p.P273fs	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	273					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding	p.D274E(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TCTTTTGTATCTCGATCTTCACCGCTGTCAGGCAATGCTT	0.368													-	37121153	CTCGATCTTCACCGCTGTCA	-	37121134	7	5	35	1	0	1	0	1	0	0	0	0	15425	913	32	0	1552	0	STRN	2	37121134	Frame_Shift_Del	DEL	CTCGATCTTCACCGCTGTCA	TCGA-06-0174-01A-01D-1491-08	5525969	37121134	206078239	12	2116											
SLC9A4	389015	broad.mit.edu	37	chr2	103149061	103149061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagggcaaggcctctttgGttgaggttcggtcgaggtgg	5	11	19	6	2	1	2	0	2	1	0	3	3	1	2	1	7	0	3	1	7	1	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:103149061G>T	uc002tbz.4	+	11	2768	c.2311G>T	c.(2311-2313)Gtt>Ttt	p.V771F		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	771					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GGCCTCTTTGGTTGAGGTTCG	0.537													T	103149061	G	T	103149061	3	4	35	1	0	0	0	0	1	0	0	0	14810	1261	44	4	2357	4	SLC9A4	2	103149061	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	66027927	103149061	140050312	13	2117											
PKP4	8502	broad.mit.edu	37	chr2	159519424	159519424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagacggtggagaactgcGtgtgcaccctgaggaacctg	9	8	14	10	2	1	3	1	1	0	2	1	5	1	4	2	3	4	1	2	3	2	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:159519424G>A	uc002tzv.3	+	13	2487	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PKP4_uc002tzt.1_Missense_Mutation_p.V595M|PKP4_uc002tzu.3_Missense_Mutation_p.V743M|PKP4_uc002tzw.3_Missense_Mutation_p.V743M|PKP4_uc002tzx.3_Missense_Mutation_p.V400M|PKP4_uc002tzy.1_Missense_Mutation_p.V401M|PKP4_uc002uaa.3_Missense_Mutation_p.V595M|AK126351_uc002uab.1_Intron|PKP4_uc002uac.3_5'UTR	NM_003628	NP_003619	Q99569	PKP4_HUMAN	Homo sapiens plakophilin 4 (PKP4), transcript variant 1, mRNA.	743					cell adhesion	desmosome	protein binding	p.V743M(2)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GGAGAACTGCGTGTGCACCCT	0.498										HNSCC(62;0.18)			A	159519424	G	A	159519424	3	1	35	1	0	0	0	0	1	0	0	0	12064	1145	40	1	2277	1	PKP4	2	159519424	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	56370363	159519424	83679949	14	2118											
ASNSD1	54529	broad.mit.edu	37	chr2	190531945	190531945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagctgaagaaaagaccAtgccaactacctttaacaga	17	8	6	10	0	1	4	1	1	0	3	1	4	1	4	3	0	5	1	3	0	7	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr2:190531945A>G	uc002uqt.3	+	3	1521	c.1087A>G	c.(1087-1089)Atg>Gtg	p.M363V		NM_019048	NP_061921	Q9NWL6	ASND1_HUMAN	Homo sapiens asparagine synthetase domain containing 1 (ASNSD1), mRNA.	363	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			AGAAAAGACCATGCCAACTAC	0.378													G	190531945	A	G	190531945	3	3	35	1	0	0	0	0	1	0	0	0	1054	217	8	3	1089	3	ASNSD1	2	190531945	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	31012521	190531945	52667428	15	2119											
CNTN4	152330	broad.mit.edu	37	chr3	2861249	2861249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgctactgtgtggcccGccaccccattctggaggtac	6	10	12	13	1	1	0	0	0	1	0	1	1	1	1	4	4	3	2	4	4	2	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:2861249G>A	uc003bpc.3	+	6	777	c.438G>A	c.(436-438)ccG>ccA	p.P146P	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Silent_p.P146P|CNTN4_uc003bpd.1_Silent_p.P146P	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	146	Ig-like C2-type 2.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TGTGTGGCCCGCCACCCCATT	0.453													A	2861249	G	A	2861249	2	1	35	1	0	0	0	0	0	0	0	1	3674	1074	38	1		1	CNTN4	3	2861249	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08		2861249	195161181	16	2120											
TRIM71	131405	broad.mit.edu	37	chr3	32933041	32933041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgactgccagtcggcacGctttctgggctcggagggca	5	7	14	15	4	1	0	0	0	1	0	3	2	1	1	3	4	1	4	3	4	0	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr3:32933041G>A	uc003cff.3	+	3	2408	c.2345G>A	c.(2344-2346)cGc>cAc	p.R782H		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	782					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CAGTCGGCACGCTTTCTGGGC	0.617													A	32933041	G	A	32933041	3	1	35	1	0	0	0	0	1	0	0	0	16645	1087	38	1	2359	1	TRIM71	3	32933041	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	30071792	32933041	165089389	17	2121											
CNGA1	1259	broad.mit.edu	37	chr4	47939480	47939480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacgtattttctagccaaaCggccaaattcaggatcatta	14	12	6	9	2	3	0	2	0	1	0	3	1	3	1	2	2	3	1	2	2	6	7	rs150374036	by1000genomes	TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:47939480C>T	uc003gxu.3	-	9	1379	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.R344H	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	344					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TCTAGCCAAACGGCCAAATTC	0.413													T	47939480	C	T	47939480	3	4	35	1	0	0	0	0	1	0	0	0	3627	536	19	1	1045	1	CNGA1	4	47939480	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		47939480	143214796	18	2122											
PDGFRA	5156	broad.mit.edu	37	chr4	55133834	55133834	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacctcccaggatatcctgGctgaaaaacaatctgactct	12	9	6	14	0	2	2	0	2	2	0	4	3	4	3	4	2	1	1	4	2	4	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:55133834G>C	uc003han.4	+	6	1378	c.1047G>C	c.(1045-1047)tgG>tgC	p.W349C	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W243C|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	349	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.W349C(2)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGATATCCTGGCTGAAAAACA	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55133834	G	C	55133834	3	2	35	1	0	0	0	0	1	0	0	0	11737	1212	42	4	1069	4	PDGFRA	4	55133834	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	7194354	55133834	136020442	19	2123											
UFSP2	55325	broad.mit.edu	37	chr4	186334930	186334930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagtatgtggatttctaaTgtaaccatctttgtatggct	10	17	9	5	0	2	0	0	0	2	0	2	1	2	1	1	2	1	5	1	2	5	7			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr4:186334930T>C	uc003ixo.2	-	6	898	c.781A>G	c.(781-783)Att>Gtt	p.I261V	UFSP2_uc003ixq.2_Missense_Mutation_p.I151V	NM_018359	NP_060829	Q9NUQ7	UFSP2_HUMAN	Homo sapiens UFM1-specific peptidase 2 (UFSP2), transcript variant 1, mRNA.	261						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		GGATTTCTAATGTAACCATCT	0.363													C	186334930	T	C	186334930	3	2	35	1	0	0	0	0	1	0	0	0	17040	1464	51	3	652	3	UFSP2	4	186334930	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	131201096	186334930	4819346	20	2124											
CCT5	22948	broad.mit.edu	37	chr5	10262653	10262653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatccggaacctcatcCgcgataatcgtgtggtgtat	8	12	11	10	4	2	0	2	0	0	0	5	2	4	1	3	2	1	1	3	2	3	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:10262653C>A	uc003jeq.3	+	8	1411	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	CCT5_uc011cmr.2_Missense_Mutation_p.R359S|CCT5_uc011cms.2_Missense_Mutation_p.R376S|CCT5_uc011cmt.2_Missense_Mutation_p.R321S	NM_012073	NP_036205	P48643	TCPE_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 5 (epsilon) (CCT5), mRNA.	414					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding	p.I413I(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						GAACCTCATCCGCGATAATCG	0.493													A	10262653	C	A	10262653	3	1	35	1	0	0	0	0	1	0	0	0	2986	652	23	4	1274	4	CCT5	5	10262653	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		10262653	170652607	21	2125											
SNX18	112574	broad.mit.edu	37	chr5	53815264	53815264	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgaaccaggctatcgcCttcaccggagatgcctatga	9	8	11	13	2	1	3	1	2	0	1	2	4	1	3	5	3	2	1	5	3	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:53815264C>G	uc003jpj.4	+	0	1672	c.1482C>G	c.(1480-1482)gcC>gcG	p.A494A	SNX18_uc011cqg.2_Silent_p.A494A|SNX18_uc003jpi.4_Silent_p.A494A	NM_052870	NP_443102	Q96RF0	SNX18_HUMAN	Homo sapiens sorting nexin 18 (SNX18), transcript variant 2, mRNA.	494	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGGCTATCGCCTTCACCGGAG	0.617													G	53815264	C	G	53815264	2	3	35	1	0	0	0	0	0	0	0	1	14983	668	24	4		4	SNX18	5	53815264	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	43552611	53815264	127099996	22	2126											
PCDHAC2	56138	broad.mit.edu	37	chr5	140250296	140250296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagttccaggtgagcgcGcgcgatgcgggcgtgccgcc	5	6	16	14	7	0	1	0	1	0	0	1	2	1	1	3	2	4	1	3	2	1	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140250296G>A	uc003lia.2	+	0	2466	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Silent_p.A536A	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGATGCGG	0.667													A	140250296	G	A	140250296	2	1	35	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140250296	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	86435032	140250296	40664964	23	2127											
PCDHGC5	56101	broad.mit.edu	37	chr5	140779096	140779096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcctggggcctccatcGcgcaagtctgcgcctcggac	5	7	11	18	4	1	0	0	0	1	0	5	1	3	1	5	3	1	1	5	3	1	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:140779096G>A	uc003lkf.2	+	0	1402	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Missense_Mutation_p.A468T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCTCCATCGCGCAAGTCTG	0.567													A	140779096	G	A	140779096	3	1	35	1	0	0	0	0	1	0	0	0	11647	1087	38	1		1	PCDHGC5	5	140779096	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	528800	140779096	40136164	24	2128											
RANBP17	64901	broad.mit.edu	37	chr5	170351426	170351426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttggagcagttgtgcaCggtcagcagatgtgaatatg	10	10	15	6	1	1	2	1	1	0	1	1	3	1	3	0	2	3	6	0	2	2	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr5:170351426C>T	uc003mba.3	+	11	1482	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M	RANBP17_uc003max.2_Non-coding_Transcript|RANBP17_uc003may.2_Non-coding_Transcript|RANBP17_uc003maz.2_Non-coding_Transcript|RANBP17_uc010jjr.2_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	447					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity	p.T447M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAGTTGTGCACGGTCAGCAGA	0.413			T	TRD@	ALL								T	170351426	C	T	170351426	3	4	35	1	0	0	0	0	1	0	0	0	13115	536	19	1	1386	1	RANBP17	5	170351426	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	29572330	170351426	10563834	25	2129											
PKHD1	5314	broad.mit.edu	37	chr6	51890717	51890717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactactggtgttgctgcCgcttcatacatgaaggtgaa	9	12	12	8	1	1	3	1	3	0	0	1	3	1	3	1	2	4	3	1	2	4	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:51890717C>T	uc003pah.1	-	31	4167	c.3891G>A	c.(3889-3891)gcG>gcA	p.A1297A	PKHD1_uc003pai.3_Silent_p.A1297A	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1297					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A1297V(1)|p.A1297T(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGTTGCTGCCGCTTCATACA	0.547													T	51890717	C	T	51890717	2	4	35	1	0	0	0	0	0	0	0	1	12048	639	23	1		1	PKHD1	6	51890717	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		51890717	119224350	26	2130											
ENPP1	5167	broad.mit.edu	37	chr6	132203516	132203516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggaagacttctccaactGtctgtaccaggactttagaa	12	11	8	10	1	2	2	0	0	2	2	3	4	2	4	2	2	3	1	2	2	6	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr6:132203516G>C	uc011ecf.2	+	20	2152	c.2132G>C	c.(2131-2133)tGt>tCt	p.C711S		NM_006208	NP_006199	P22413	ENPP1_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 1 (ENPP1), mRNA.	711	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTCTCCAACTGTCTGTACCAG	0.383													C	132203516	G	C	132203516	3	2	35	1	0	0	0	0	1	0	0	0	5170	1377	48	4	2214	4	ENPP1	6	132203516	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	80312799	132203516	38911551	27	2131											
BBS9	27241	broad.mit.edu	37	chr7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttattttaggcattccgCgagttatccaatgtaaattt	10	18	6	7	2	0	0	0	0	0	0	2	1	2	0	2	1	0	3	2	1	6	8			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:33397475C>T	uc003tdn.1	+	15	2074	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	521			R -> Q (in dbSNP:rs34218557).		fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R521Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome				T	33397475	C	T	33397475	4	4	35	1	0	0	0	0	0	1	0	0	1347	760	27	1	1619	1	BBS9	7	33397475	Nonsense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		33397475	125741188	28	2132											
AOAH	313	broad.mit.edu	37	chr7	36571797	36571797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttggaagacatccagcCgtggcaggggctgacctgag	8	8	15	10	1	0	3	0	2	0	1	1	4	1	4	3	4	1	3	3	4	1	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:36571797C>T	uc022abu.1	-	17	1782	c.1381G>A	c.(1381-1383)Ggc>Agc	p.G461S	AOAH_uc003tfh.4_Missense_Mutation_p.G461S|AOAH_uc011kba.2_Missense_Mutation_p.G429S	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	461					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(2)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GACATCCAGCCGTGGCAGGGG	0.512													T	36571797	C	T	36571797	3	4	35	1	0	0	0	0	1	0	0	0	728	652	23	1	703	1	AOAH	7	36571797	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	3174322	36571797	122566866	29	2133											
EPDR1	54749	broad.mit.edu	37	chr7	37989842	37989842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacagtcaaggattgctaTcctgtccaggaaacctttac	12	12	7	10	0	1	0	1	0	0	0	3	2	3	2	3	2	4	1	3	2	6	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:37989842T>C	uc003tfp.3	+	2	898	c.879T>C	c.(877-879)taT>taC	p.Y293Y	EPDR1_uc003tfq.3_3'UTR|EPDR1_uc010kxh.3_Silent_p.Y112Y	NM_017549	NP_060019	Q9UM22	EPDR1_HUMAN	Homo sapiens ependymin related protein 1 (zebrafish) (EPDR1), transcript variant 1, mRNA.	173					cell-matrix adhesion	extracellular region	calcium ion binding	p.Y293C(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGGATTGCTATCCTGTCCAGG	0.388													C	37989842	T	C	37989842	2	2	35	1	0	0	0	0	0	0	0	1	5204	1442	50	3		3	EPDR1	7	37989842	Silent	SNP	T	TCGA-06-0174-01A-01D-1491-08	1418045	37989842	121148821	30	2134											
VSTM2A	222008	broad.mit.edu	37	chr7	54612435	54612435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccaatggtggttcctgcGggggccggaggacctggatc	6	8	17	10	2	0	0	0	0	0	0	3	4	2	3	4	7	1	1	4	7	1	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:54612435G>A	uc022adk.1	+	1	605	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	VSTM2A_uc010kzf.3_Missense_Mutation_p.R67Q	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	67	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TGGTTCCTGCGGGGGCCGGAG	0.716													A	54612435	G	A	54612435	3	1	35	1	0	0	0	0	1	0	0	0	17331	1116	39	1	206	1	VSTM2A	7	54612435	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	16622593	54612435	104526228	31	2135											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	35	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	620608	55233043	103905620	32	2136											
EGFR	1956	broad.mit.edu	37	chr7	55233091	55233091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggaagtacgcagacgccgGccatgtgtgccacctgtgcc	7	7	13	14	3	0	1	0	0	0	1	0	2	0	2	5	2	3	2	5	2	2	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:55233091G>A	uc003tqk.3	+	14	2087	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D	EGFR_uc003tqi.3_Missense_Mutation_p.G614D|EGFR_uc003tqj.3_Missense_Mutation_p.G614D|EGFR_uc022adm.1_Missense_Mutation_p.G614D|EGFR_uc010kzg.2_Missense_Mutation_p.G569D|EGFR_uc022adn.1_Missense_Mutation_p.G569D|EGFR_uc011kco.2_Missense_Mutation_p.G561D|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	614					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAGACGCCGGCCATGTGTGC	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55233091	G	A	55233091	3	1	35	1	0	0	0	0	1	0	0	0	5006	1203	42	2	1910	2	EGFR	7	55233091	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	48	55233091	103905572	33	2137											
KIAA1324L	222223	broad.mit.edu	37	chr7	86548556	86548556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatcctgggatatgcaaGtttaagatcaggtaatcatt	14	14	8	5	0	2	1	2	0	0	1	3	2	3	2	1	2	1	3	1	2	6	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:86548556G>T	uc011kha.2	-	10	1655	c.1470C>A	c.(1468-1470)aaC>aaA	p.N490K	KIAA1324L_uc003uie.3_Missense_Mutation_p.N323K|KIAA1324L_uc011kgz.2_Missense_Mutation_p.N376K|KIAA1324L_uc003uif.2_Missense_Mutation_p.N242K	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	490						integral to membrane		p.L489L(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					GGATATGCAAGTTTAAGATCA	0.373													T	86548556	G	T	86548556	3	4	35	1	0	0	0	0	1	0	0	0	8282	1020	36	4	1667	4	KIAA1324L	7	86548556	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	31315465	86548556	72590107	34	2138											
FAM200A	221786	broad.mit.edu	37	chr7	99145995	99145995	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctgggtaccccctggAgacaaatctgtagtatccct	9	11	8	13	0	2	1	0	0	2	1	4	2	3	1	4	2	1	3	4	2	4	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:99145995A>C	uc003ura.3	-	1	416	c.36T>G	c.(34-36)tcT>tcG	p.S12S	FAM200A_uc003urb.3_Silent_p.S12S|FAM200A_uc022aia.1_Silent_p.S12S	NM_145111	NP_659802	Q8TCP9	F200A_HUMAN	Homo sapiens family with sequence similarity 200, member A (FAM200A), mRNA.	12						integral to membrane	nucleic acid binding			endometrium(1)|kidney(5)|large_intestine(2)|ovary(2)|skin(1)	11						TACCCCCTGGAGACAAATCTG	0.453													C	99145995	A	C	99145995	2	2	35	1	0	0	0	0	0	0	0	1	5583	291	11	5		5	FAM200A	7	99145995	Silent	SNP	A	TCGA-06-0174-01A-01D-1491-08	12597439	99145995	59992668	35	2139											
FBXO24	26261	broad.mit.edu	37	chr7	100197689	100197689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccatcaccctgtggtgCggcctcaaccactccctggt	5	8	10	18	2	2	0	2	0	0	0	3	0	3	0	5	4	2	0	5	4	1	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:100197689C>T	uc011kjz.1	+	8	1424	c.1356C>T	c.(1354-1356)tgC>tgT	p.C452C	FBXO24_uc003uvm.1_Silent_p.C414C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Silent_p.C402C|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	414						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCTGTGGTGCGGCCTCAACC	0.692													T	100197689	C	T	100197689	2	4	35	1	0	0	0	0	0	0	0	1	5784	776	27	1		1	FBXO24	7	100197689	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	1051694	100197689	58940974	36	2140											
SVOPL	136306	broad.mit.edu	37	chr7	138314843	138314843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatatttagcatccaataGgtctgcaaatcttcctcttt	12	16	4	9	0	3	0	0	0	3	0	5	0	5	0	2	1	2	2	2	1	7	7			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:138314843G>T	uc011kqh.2	-	8	814	c.814C>A	c.(814-816)Cta>Ata	p.L272I	SVOPL_uc003vue.3_Missense_Mutation_p.L120I	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	272						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						GCATCCAATAGGTCTGCAAAT	0.393													T	138314843	G	T	138314843	3	4	35	1	0	0	0	0	1	0	0	0	15520	991	35	4	692	4	SVOPL	7	138314843	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	38117154	138314843	20823820	37	2141											
NOS3	4846	broad.mit.edu	37	chr7	150699051	150699051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaaggcttttgatcccCgggtagggctgagcccaggg	6	8	16	11	2	0	2	0	2	0	0	2	3	2	3	4	5	1	3	4	5	2	3	rs142781987		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr7:150699051C>T	uc003wif.3	+	12	1941	c.1645C>T	c.(1645-1647)Cgg>Tgg	p.R549W	NOS3_uc011kuy.2_Missense_Mutation_p.R343W|NOS3_uc011kva.2_Missense_Mutation_p.R549W|NOS3_uc011kuz.2_Missense_Mutation_p.R549W|NOS3_uc011kvb.2_Missense_Mutation_p.R549W	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	549	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	TTTTGATCCCCGGGTAGGGCT	0.612													T	150699051	C	T	150699051	3	4	35	1	0	0	0	0	1	0	0	0	10620	643	23	1	1691	1	NOS3	7	150699051	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	12384208	150699051	8439612	38	2142											
NEIL2	252969	broad.mit.edu	37	chr8	11643604	11643604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtacagcctggctgcaggGcaagttccaaggcagaccgc	10	5	13	13	1	0	1	0	0	0	1	1	1	1	1	3	3	3	6	3	3	3	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:11643604G>A	uc003wug.2	+	4	1496	c.821G>A	c.(820-822)gGc>gAc	p.G274D	NEIL2_uc003wue.2_Missense_Mutation_p.G274D|NEIL2_uc003wuf.2_Missense_Mutation_p.G213D|NEIL2_uc011kxd.1_Missense_Mutation_p.G158D	NM_145043	NP_001129219	Q969S2	NEIL2_HUMAN	Homo sapiens nei endonuclease VIII-like 2 (E. coli) (NEIL2), transcript variant 1, mRNA.	274					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TGGCTGCAGGGCAAGTTCCAA	0.607								Base excision repair (BER), DNA glycosylases					A	11643604	G	A	11643604	3	1	35	1	0	0	0	0	1	0	0	0	10395	1203	42	2	840	2	NEIL2	8	11643604	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		11643604	134720418	39	2143											
DOCK5	80005	broad.mit.edu	37	chr8	25191663	25191663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttccagcattttaatcctGtacttgaaacctacatttac	12	15	4	10	0	0	1	0	1	0	0	2	1	2	1	3	0	5	3	3	0	5	8			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:25191663G>A	uc003xeg.3	+	20	2280	c.2143G>A	c.(2143-2145)Gta>Ata	p.V715I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.V429I|DOCK5_uc003xei.3_Missense_Mutation_p.V285I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	715						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTTTAATCCTGTACTTGAAAC	0.368													A	25191663	G	A	25191663	3	1	35	1	0	0	0	0	1	0	0	0	4729	1377	48	2	2225	2	DOCK5	8	25191663	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	13548059	25191663	121172359	40	2144											
TEX15	56154	broad.mit.edu	37	chr8	30700748	30700748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtatcatatatcttcTgcaacttagaaaaggcacat	17	11	5	8	0	3	1	1	0	2	1	3	1	3	1	0	1	2	3	0	1	8	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:30700748T>C	uc003xil.3	-	0	5786	c.5786A>G	c.(5785-5787)cAg>cGg	p.Q1929R		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1929										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ATATATCTTCTGCAACTTAGA	0.358													C	30700748	T	C	30700748	3	2	35	1	0	0	0	0	1	0	0	0	15879	1580	55	3	2599	3	TEX15	8	30700748	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	5509085	30700748	115663274	41	2145											
ST18	9705	broad.mit.edu	37	chr8	53025895	53025895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaattctgctcactgatagGtccctaaatggagacaaaac	16	9	7	9	0	2	2	1	1	1	1	3	3	3	2	1	2	2	1	1	2	7	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:53025895G>A	uc003xqz.2	-	20	3163	c.3007C>T	c.(3007-3009)Cct>Tct	p.P1003S	ST18_uc011ldq.1_Missense_Mutation_p.P650S|ST18_uc011ldr.1_Missense_Mutation_p.P968S|ST18_uc011lds.1_Missense_Mutation_p.P908S|ST18_uc003xra.2_Missense_Mutation_p.P1003S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	1003						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TCACTGATAGGTCCCTAAATG	0.463													A	53025895	G	A	53025895	3	1	35	1	0	0	0	0	1	0	0	0	15308	1261	44	2	140	2	ST18	8	53025895	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	22325147	53025895	93338127	42	2146											
CPA6	57094	broad.mit.edu	37	chr8	68334862	68334862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatccagtgtcacgtagttcGaaagcaaatgcataaggtat	14	11	9	7	2	1	0	1	0	0	0	3	1	2	0	1	1	2	5	1	1	6	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:68334862G>A	uc003xxq.4	-	10	1447	c.1191C>T	c.(1189-1191)ttC>ttT	p.F397F	CPA6_uc003xxr.4_Silent_p.F153F	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	397					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			CACGTAGTTCGAAAGCAAATG	0.383													A	68334862	G	A	68334862	2	1	35	1	0	0	0	0	0	0	0	1	3825	1049	37	1		1	CPA6	8	68334862	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	15308967	68334862	78029160	43	2147											
JPH1	56704	broad.mit.edu	37	chr8	75171694	75171694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggcgagcggccagcGcggcctggtcggcggcatcg	4	5	17	15	7	0	0	0	0	0	0	3	1	1	0	3	6	2	1	3	6	0	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:75171694G>A	uc003yae.3	-	2	1224	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	JPH1_uc003yaf.3_Missense_Mutation_p.A395V|JPH1_uc003yag.1_Missense_Mutation_p.A259V	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AGCGGCCAGCGCGGCCTGGTC	0.597													A	75171694	G	A	75171694	3	1	35	1	0	0	0	0	1	0	0	0	8018	1087	38	1	813	1	JPH1	8	75171694	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	6836832	75171694	71192328	44	2148											
RAD54B	25788	broad.mit.edu	37	chr8	95412584	95412584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctttattactggcttgCctccatagggtccctgacac	6	15	7	13	0	2	1	0	1	2	0	4	1	4	1	3	2	2	1	3	2	3	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:95412584C>T	uc003ygk.3	-	6	1183	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	RAD54B_uc010may.2_Missense_Mutation_p.G167D|RAD54B_uc003ygl.2_Non-coding_Transcript	NM_012415	NP_001192192	O95073	FSBP_HUMAN	Homo sapiens RAD54 homolog B (S. cerevisiae) (RAD54B), transcript variant 1, mRNA.	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			TACTGGCTTGCCTCCATAGGG	0.433								Direct reversal of damage;Homologous recombination					T	95412584	C	T	95412584	3	4	35	1	0	0	0	0	1	0	0	0	13080	739	26	2	1716	2	RAD54B	8	95412584	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	20240890	95412584	50951438	45	2149											
TRPS1	7227	broad.mit.edu	37	chr8	116616647	116616647	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccttctttttagcccCactcgagctcttgtctgtct	5	16	7	13	1	4	0	0	0	4	0	6	2	5	0	3	0	2	1	3	0	2	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr8:116616647C>G	uc003yny.3	-	3	2127	c.1549G>C	c.(1549-1551)Ggg>Cgg	p.G517R	TRPS1_uc011lhy.2_Missense_Mutation_p.G508R|TRPS1_uc003ynz.3_Missense_Mutation_p.G504R|TRPS1_uc010mcy.3_Missense_Mutation_p.G504R	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	504					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			TTTTTAGCCCCACTCGAGCTC	0.438									Langer-Giedion syndrome				G	116616647	C	G	116616647	3	3	35	1	0	0	0	0	1	0	0	0	16694	594	21	4	2351	4	TRPS1	8	116616647	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	21204063	116616647	29747375	46	2150											
DMRTA1	63951	broad.mit.edu	37	chr9	22447335	22447336	+	Frame_Shift_Ins	INS	-	-	A																															aggcgcggtgggctgcggctINSacccgcggacgcccaagtgc																								rs111465355		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:22447335_22447336insA	uc003zpp.1	+	0	496_497	c.271_272insA	c.(271-273)tacfs	p.Y91fs		NM_022160	NP_071443	Q5VZB9	DMRTA_HUMAN	Homo sapiens DMRT-like family A1 (DMRTA1), mRNA.	91					cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GGGCTGCGGCTACCCGCGGACG	0.762													A	22447336	-	A	22447335	7	5	35	1	0	1	1	0	0	0	0	0	4627	1522	53	0	273	0	DMRTA1	9	22447335	Frame_Shift_Ins	INS	-	TCGA-06-0174-01A-01D-1491-08		22447335	118766096	47	2151											
VAV2	7410	broad.mit.edu	37	chr9	136653541	136653541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaacagcagctcgatgatctCcttgagctcgtagctgtagc	9	10	11	11	2	1	2	0	2	1	0	4	4	1	2	1	0	6	6	1	0	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr9:136653541C>T	uc004ces.3	-	14	1388	c.1342G>A	c.(1342-1344)Gag>Aag	p.E448K	VAV2_uc004cer.3_Missense_Mutation_p.E443K|VAV2_uc004cet.1_5'UTR	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	448	PH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		TCGATGATCTCCTTGAGCTCG	0.592													T	136653541	C	T	136653541	3	4	35	1	0	0	0	0	1	0	0	0	17234	864	30	2	1358	2	VAV2	9	136653541	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	114206206	136653541	4559890	48	2152											
KIAA1217	56243	broad.mit.edu	37	chr10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtgctctggagtccaCggtgcctcccagccagcctc	5	8	11	17	1	2	0	1	0	1	0	5	1	4	1	5	2	4	2	5	2	0	0	rs141937477		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:24790356C>T	uc001iru.4	+	8	2286	c.1883C>T	c.(1882-1884)aCg>aTg	p.T628M	KIAA1217_uc001irs.3_Missense_Mutation_p.T548M|KIAA1217_uc001irt.4_Missense_Mutation_p.T593M|KIAA1217_uc010qcy.2_Missense_Mutation_p.T593M|KIAA1217_uc010qcz.2_Missense_Mutation_p.T593M|KIAA1217_uc001irv.1_Missense_Mutation_p.T443M|KIAA1217_uc010qda.1_Non-coding_Transcript|KIAA1217_uc001irw.3_Missense_Mutation_p.T311M|KIAA1217_uc001irz.3_Missense_Mutation_p.T311M|KIAA1217_uc001irx.3_Missense_Mutation_p.T311M|KIAA1217_uc001iry.3_Missense_Mutation_p.T311M	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	628					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582													T	24790356	C	T	24790356	3	4	35	1	0	0	0	0	1	0	0	0	8274	536	19	1	1917	1	KIAA1217	10	24790356	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		24790356	110744391	49	2153											
ARMC4	55130	broad.mit.edu	37	chr10	28229528	28229528	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgtccccaccactggAattagcatgttttcatgaga	11	12	8	10	0	1	1	1	1	0	1	2	3	2	2	3	1	2	3	3	1	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:28229528A>C	uc009xky.3	-	12	2048	c.1950T>G	c.(1948-1950)atT>atG	p.I650M	ARMC4_uc010qds.2_Missense_Mutation_p.I175M|ARMC4_uc010qdt.2_Missense_Mutation_p.I342M|ARMC4_uc001itz.3_Missense_Mutation_p.I650M|ARMC4_uc010qdu.1_Missense_Mutation_p.I342M	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	650							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CCACCACTGGAATTAGCATGT	0.473													C	28229528	A	C	28229528	3	2	35	1	0	0	0	0	1	0	0	0	958	242	9	5	1216	5	ARMC4	10	28229528	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	3439172	28229528	107305219	50	2154											
OR13A1	79290	broad.mit.edu	37	chr10	45799324	45799324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccacagaaatccaagcGcagcatcagccccgtgtgga	11	4	13	13	2	1	1	1	0	0	1	2	2	2	2	4	3	3	2	4	3	2	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:45799324G>A	uc001jcc.1	-	3	856	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	OR13A1_uc001jcd.1_Missense_Mutation_p.R179C|OR13A1_uc021ppq.1_Missense_Mutation_p.R183C	NM_001004297	NP_001004297	Q8NGR1	O13A1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily A, member 1 (OR13A1), mRNA.	183					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAATCCAAGCGCAGCATCAGC	0.587													A	45799324	G	A	45799324	3	1	35	1	0	0	0	0	1	0	0	0	11009	1087	38	1	443	1	OR13A1	10	45799324	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	17569796	45799324	89735423	51	2155											
DNTT	1791	broad.mit.edu	37	chr10	98079146	98079146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtaaccagatattcaCggtaacgggactttacatca	14	10	7	10	2	2	1	2	0	0	1	2	2	2	2	1	2	4	2	1	2	5	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:98079146C>T	uc001kmf.3	+	3	677	c.507_splice	c.e3+1	p.T169_splice	DNTT_uc001kmg.3_Splice_Site_p.T169_splice	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	169	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CAGATATTCACGGTAACGGGA	0.448													T	98079146	C	T	98079146	3	4	35	1	0	0	0	0	1	0	0	0	4719	550	19	1	516	1	DNTT	10	98079146	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	52279822	98079146	37455601	52	2156											
PAX2	5076	broad.mit.edu	37	chr10	102510548	102510548	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagattgctgaatacaaaCgacagaacccgactatgttc	16	8	7	10	2	0	3	0	1	0	2	1	5	0	3	1	0	4	2	1	0	6	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr10:102510548C>T	uc001krk.4	+	2	860	c.310C>T	c.(310-312)Cga>Tga	p.R104*	PAX2_uc001krm.4_Nonsense_Mutation_p.R104*|PAX2_uc001krn.4_Nonsense_Mutation_p.R104*|PAX2_uc001kro.4_Nonsense_Mutation_p.R104*|PAX2_uc010qps.2_Nonsense_Mutation_p.R103*|PAX2_uc001krl.4_Nonsense_Mutation_p.R104*|PAX2_uc001krp.1_Nonsense_Mutation_p.R108*	NM_003990	NP_003981	Q02962	PAX2_HUMAN	Homo sapiens paired box 2 (PAX2), transcript variant e, mRNA.	104	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAATACAAACGACAGAACCC	0.572													T	102510548	C	T	102510548	4	4	35	1	0	0	0	0	0	1	0	0	11555	528	19	1	320	1	PAX2	10	102510548	Nonsense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	4431402	102510548	33024199	53	2157											
OR4C6	219432	broad.mit.edu	37	chr11	55433358	55433358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagccctctctacctgcaGctcccacctcacggtggttg	7	9	8	17	1	2	0	1	0	1	0	4	0	3	0	4	2	4	3	4	2	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr11:55433358G>T	uc010rik.2	+	0	716	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TCTACCTGCAGCTCCCACCTC	0.502													T	55433358	G	T	55433358	3	4	35	1	0	0	0	0	1	0	0	0	11128	971	34	4	718	4	OR4C6	11	55433358	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		55433358	79573158	54	2158											
CD4	920	broad.mit.edu	37	chr12	6923329	6923329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccaagctgaatgatcGcgctgactcaagaagaagcc	13	7	9	12	2	1	5	1	3	0	2	4	5	3	5	3	0	2	2	3	0	5	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:6923329G>A	uc001qqv.2	+	3	494	c.236G>A	c.(235-237)cGc>cAc	p.R79H	CD4_uc009zfa.2_Non-coding_Transcript|CD4_uc009zez.2_Missense_Mutation_p.R24H|CD4_uc009zfb.2_Non-coding_Transcript|CD4_uc010sfj.2_5'UTR|CD4_uc009zfc.2_5'UTR|CD4_uc010sfl.2_5'UTR|CD4_uc010sfk.2_5'UTR|CD4_uc010sfm.1_5'UTR	NM_000616	NP_000607	P01730	CD4_HUMAN	Homo sapiens CD4 molecule (CD4), transcript variant 1, mRNA.	79	Ig-like V-type.				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CTGAATGATCGCGCTGACTCA	0.522													A	6923329	G	A	6923329	3	1	35	1	0	0	0	0	1	0	0	0	3044	1087	38	1	246	1	CD4	12	6923329	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		6923329	126928566	55	2159											
PHC1	1911	broad.mit.edu	37	chr12	9087006	9087006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacccccacaggccatcGtgaagccccagattctcacc	12	5	6	18	1	1	2	1	1	1	1	3	2	1	2	6	1	2	0	6	1	3	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:9087006G>A	uc001qvd.3	+	9	2341	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PHC1_uc001qve.3_Missense_Mutation_p.V729M	NM_004426	NP_004417	P78364	PHC1_HUMAN	Homo sapiens polyhomeotic homolog 1 (Drosophila) (PHC1), mRNA.	729					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ACAGGCCATCGTGAAGCCCCA	0.542													A	9087006	G	A	9087006	3	1	35	1	0	0	0	0	1	0	0	0	11893	1145	40	1	2219	1	PHC1	12	9087006	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	2163677	9087006	124764889	56	2160											
BICD1	636	broad.mit.edu	37	chr12	32491868	32491868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgaattcatccaaGggcaccggctcagcaaggaa	13	6	11	11	1	2	2	2	2	0	0	3	3	3	3	3	3	1	3	3	3	4	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:32491868G>C	uc001rku.3	+	7	2800	c.2719G>C	c.(2719-2721)Ggg>Cgg	p.G907R	BICD1_uc001rkv.3_Intron|BICD1_uc010skd.2_Non-coding_Transcript	NM_001714	NP_001705	Q96G01	BICD1_HUMAN	Homo sapiens bicaudal D homolog 1 (Drosophila) (BICD1), transcript variant 1, mRNA.	907					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			ATTCATCCAAGGGCACCGGCT	0.463													C	32491868	G	C	32491868	3	2	35	1	0	0	0	0	1	0	0	0	1434	1000	35	4	2749	4	BICD1	12	32491868	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	23404862	32491868	101360027	57	2161											
BCDIN3D	144233	broad.mit.edu	37	chr12	50232500	50232500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccaggaactcccataggCcatggtctccatgattcaga	10	8	11	12	0	2	2	1	1	1	1	4	3	3	3	4	4	1	0	4	4	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:50232500C>T	uc001rvh.3	-	1	575	c.533G>A	c.(532-534)gGc>gAc	p.G178D	LOC100286844_uc010smm.2_Intron|LOC100286844_uc001rvg.3_Non-coding_Transcript|LOC100286844_uc010smn.2_Non-coding_Transcript	NM_181708	NP_859059	Q7Z5W3	BN3D2_HUMAN	Homo sapiens BCDIN3 domain containing (BCDIN3D), mRNA.	178	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTCCCATAGGCCATGGTCTCC	0.512											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50232500	C	T	50232500	3	4	35	1	0	0	0	0	1	0	0	0	1362	739	26	2	349	2	BCDIN3D	12	50232500	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	17740632	50232500	83619395	58	2162											
ATF7	11016	broad.mit.edu	37	chr12	53928392	53928392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaggcagggagccaggacGtacaatggtgggtgtggggg	9	5	22	5	1	0	1	0	0	0	1	0	4	0	3	1	7	2	2	1	7	2	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:53928392G>A	uc001sdy.3	-	4	508	c.487C>T	c.(487-489)Cgt>Tgt	p.R163C	ATF7_uc010sok.1_Non-coding_Transcript|ATF7_uc001sdz.3_Missense_Mutation_p.R152C|ATF7_uc010sol.2_Missense_Mutation_p.R131C	NM_001130059	NP_001123531	P17544	ATF7_HUMAN	Homo sapiens activating transcription factor 7 (ATF7), transcript variant 1, mRNA.	163	Transactivation domain.				interspecies interaction between organisms	cytoplasm|nuclear periphery|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9						GAGCCAGGACGTACAATGGTG	0.512													A	53928392	G	A	53928392	3	1	35	1	0	0	0	0	1	0	0	0	1091	1145	40	1	1025	1	ATF7	12	53928392	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	3695892	53928392	79923503	59	2163											
AVIL	10677	broad.mit.edu	37	chr12	58207190	58207190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtcctgggataggagaCtggccactctccgggtctgg	6	9	16	10	1	2	1	0	0	2	1	4	4	3	3	3	6	0	0	3	6	1	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:58207190C>T	uc001sqj.2	-	2	187	c.158G>A	c.(157-159)aGt>aAt	p.S53N	AVIL_uc009zqe.2_Missense_Mutation_p.S46N|AVIL_uc001sql.4_Missense_Mutation_p.S30N	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	53	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GGATAGGAGACTGGCCACTCT	0.582													T	58207190	C	T	58207190	3	4	35	1	0	0	0	0	1	0	0	0	1232	565	20	2	2369	2	AVIL	12	58207190	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	4278798	58207190	75644705	60	2164											
CPSF6	11052	broad.mit.edu	37	chr12	69653833	69653833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccctcacaggtgattatgGgagtgctattgagacactgg	9	12	12	8	0	1	2	1	2	0	1	2	4	2	3	1	3	1	1	1	3	2	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:69653833G>T	uc001sut.4	+	7	1435	c.1325G>T	c.(1324-1326)gGg>gTg	p.G442V	CPSF6_uc001suu.4_Missense_Mutation_p.G479V|CPSF6_uc010stk.2_Missense_Mutation_p.G73V	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	442					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GGTGATTATGGGAGTGCTATT	0.353													T	69653833	G	T	69653833	3	4	35	1	0	0	0	0	1	0	0	0	3860	1232	43	4	1355	4	CPSF6	12	69653833	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	11446643	69653833	64198062	61	2165											
NOS1	4842	broad.mit.edu	37	chr12	117718572	117718572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccccagggtggagccGtcaggctgcttgtagccagc	5	7	16	13	1	1	0	1	0	0	0	2	1	2	1	4	4	4	3	4	4	1	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:117718572G>A	uc001twn.2	-	7	2193	c.1482C>T	c.(1480-1482)gaC>gaT	p.D494D	NOS1_uc021ren.1_Silent_p.D158D|NOS1_uc021reo.1_Silent_p.D158D|NOS1_uc001twm.2_Silent_p.D494D	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	494					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.D494D(4)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GGGTGGAGCCGTCAGGCTGCT	0.617													A	117718572	G	A	117718572	2	1	35	1	0	0	0	0	0	0	0	1	10617	1136	40	1		1	NOS1	12	117718572	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	48064739	117718572	16133323	62	2166											
TMEM132B	114795	broad.mit.edu	37	chr12	126004117	126004117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccatgagtgagctggtcgtCtccgagatcttcgtcagcca	7	11	11	12	3	3	3	1	2	2	1	7	4	4	3	3	1	2	1	3	1	0	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:126004117C>T	uc001uhe.1	+	3	1232	c.1224C>T	c.(1222-1224)gtC>gtT	p.V408V	TMEM132B_uc021rgl.1_Silent_p.V298V	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	408						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCTGGTCGTCTCCGAGATCT	0.532													T	126004117	C	T	126004117	2	4	35	1	0	0	0	0	0	0	0	1	16146	900	32	2		2	TMEM132B	12	126004117	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	8285545	126004117	7847778	63	2167											
GLT1D1	144423	broad.mit.edu	37	chr12	129360558	129360558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatcttggctgagaactgCgaggctgccctggctcttca	6	11	11	13	1	4	1	2	1	2	1	4	3	4	1	1	3	3	3	1	3	1	2	rs144231014		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr12:129360558C>T	uc010tbh.1	+	1	144	c.135C>T	c.(133-135)tgC>tgT	p.C45C	GLT1D1_uc001uhx.1_Silent_p.C56C|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	56					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTGAGAACTGCGAGGCTGCCC	0.483													T	129360558	C	T	129360558	2	4	35	1	0	0	0	0	0	0	0	1	6521	776	27	1		1	GLT1D1	12	129360558	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	3356441	129360558	4491337	64	2168											
ZMYM5	9205	broad.mit.edu	37	chr13	20409775	20409775	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctgtacttattaaagcAatggttactgcacagtttat	13	15	6	7	0	1	0	0	0	1	0	1	0	1	0	0	1	4	5	0	1	8	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:20409775A>G	uc010tcn.1	-	6	1358	c.1093T>C	c.(1093-1095)Tgc>Cgc	p.C365R	ZMYM5_uc001umm.1_Missense_Mutation_p.C189R	NM_001142684	NP_001136156	Q9UJ78	ZMYM5_HUMAN	Homo sapiens zinc finger, MYM-type 5 (ZMYM5), transcript variant 3, mRNA.	365						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TTATTAAAGCAATGGTTACTG	0.363													G	20409775	A	G	20409775	3	3	35	1	0	0	0	0	1	0	0	0	17804	130	5	3	924	3	ZMYM5	13	20409775	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08		20409775	94760103	65	2169											
NBEA	26960	broad.mit.edu	37	chr13	35730325	35730325	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgataaaacttttcagtaAcagccgtgaaaatagaaggt	17	11	8	5	1	1	3	1	2	0	1	1	3	1	3	1	1	3	1	1	1	8	6			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:35730325A>C	uc021rid.1	+	19	3167	c.2633A>C	c.(2632-2634)aAc>aCc	p.N878T	NBEA_uc021ric.1_Missense_Mutation_p.N878T	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	878						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		CTTTTCAGTAACAGCCGTGAA	0.313													C	35730325	A	C	35730325	3	2	35	1	0	0	0	0	1	0	0	0	10263	43	2	5	2711	5	NBEA	13	35730325	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	15320550	35730325	79439553	66	2170											
SCEL	8796	broad.mit.edu	37	chr13	78176839	78176839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgccaggatgaataaaaCgagcagaaggtgagaactga	18	5	13	5	1	0	4	0	3	0	2	0	8	0	5	1	2	4	1	1	2	6	1	rs144213801		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr13:78176839C>T	uc001vki.3	+	16	1198	c.1028C>T	c.(1027-1029)aCg>aTg	p.T343M	SCEL_uc010thx.2_Missense_Mutation_p.T321M|SCEL_uc001vkj.3_Missense_Mutation_p.T323M	NM_144777	NP_659001	O95171	SCEL_HUMAN	Homo sapiens sciellin (SCEL), transcript variant 1, mRNA.	343	16 X approximate tandem repeats.				embryo development|keratinocyte differentiation	cornified envelope|cytoplasm|membrane	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(18)|ovary(5)|prostate(1)|stomach(1)|urinary_tract(1)	40		Acute lymphoblastic leukemia(28;0.0282)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0233)		ATGAATAAAACGAGCAGAAGG	0.348													T	78176839	C	T	78176839	3	4	35	1	0	0	0	0	1	0	0	0	13980	536	19	1	1090	1	SCEL	13	78176839	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	42446514	78176839	36993039	67	2171											
HECTD1	25831	broad.mit.edu	37	chr14	31582555	31582555	+	Frame_Shift_Del	DEL	C	C	-																															cagaagctgaaggacatcttCtactccacaagagttctgtc																										TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:31582555delC	uc001wrc.1	-	32	6481	c.5992delG	c.(5992-5994)gaafs	p.E1998fs	HECTD1_uc001wra.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrb.1_Frame_Shift_Del_p.E124fs|HECTD1_uc001wrd.1_Frame_Shift_Del_p.E1466fs	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	1998					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGGACATCTTCTACTCCACAA	0.403													-	31582555	C	-	31582555	7	5	35	1	0	1	0	1	0	0	0	0	7094	922	32	0	1884	0	HECTD1	14	31582555	Frame_Shift_Del	DEL	C	TCGA-06-0174-01A-01D-1491-08		31582555	75766985	68	2172											
RPL10L	140801	broad.mit.edu	37	chr14	47120929	47120929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtaacagcgagctggaCggcgccccatggcgacacag	10	3	14	14	5	0	0	0	0	0	0	0	3	0	1	3	4	3	2	3	4	1	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:47120929C>T	uc001wwg.3	-	0	100	c.11G>A	c.(10-12)cGt>cAt	p.R4H		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	4					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R4S(2)|p.R3R(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						GCGAGCTGGACGGCGCCCCAT	0.557													T	47120929	C	T	47120929	3	4	35	1	0	0	0	0	1	0	0	0	13647	536	19	1	637	1	RPL10L	14	47120929	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	15538374	47120929	60228611	69	2173											
ACYP1	97	broad.mit.edu	37	chr14	75520272	75520272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattcctgcatatgacgcaCcttggagatgggaccttgca	9	10	10	12	1	0	2	0	1	0	1	1	4	1	3	4	2	2	3	4	2	1	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:75520272C>T	uc001xrg.3	-	2	263	c.175G>A	c.(175-177)Gtg>Atg	p.V59M	MLH3_uc001xrd.1_5'Flank|MLH3_uc001xre.1_5'Flank|ACYP1_uc001xrf.3_3'UTR	NM_001107	NP_001098	P07311	ACYP1_HUMAN	Homo sapiens acylphosphatase 1, erythrocyte (common) type (ACYP1), transcript variant 1, mRNA.	59	Acylphosphatase-like.				phosphate metabolic process		acylphosphatase activity			large_intestine(2)	2				BRCA - Breast invasive adenocarcinoma(234;0.00646)		ATATGACGCACCTTGGAGATG	0.478													T	75520272	C	T	75520272	3	4	35	1	0	0	0	0	1	0	0	0	228	507	18	2	128	2	ACYP1	14	75520272	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	28399343	75520272	31829268	70	2174											
AHNAK2	113146	broad.mit.edu	37	chr14	105412495	105412495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctccacgtcgggggccGtcacgtccgtcttcgggcct	4	8	12	17	6	2	0	1	0	1	0	6	0	4	0	5	3	0	0	5	3	0	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr14:105412495G>A	uc010axc.1	-	6	9413	c.9293C>T	c.(9292-9294)aCg>aTg	p.T3098M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.T2998M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3098						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGGGGCCGTCACGTCCGT	0.627													A	105412495	G	A	105412495	3	1	35	1	0	0	0	0	1	0	0	0	415	1145	40	1	8098	1	AHNAK2	14	105412495	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	29892223	105412495	1937045	71	2175											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111153	42111153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagggcttctggacccaaCcggtgagaacagaatgtggg	12	6	14	9	1	1	2	0	1	1	2	1	4	1	3	2	4	2	1	2	4	4	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:42111153C>T	uc001zok.4	+	20	2593	c.2307C>T	c.(2305-2307)aaC>aaT	p.N769N	MAPKBP1_uc010bci.3_Silent_p.N763N|MAPKBP1_uc010udb.2_Silent_p.N602N|MAPKBP1_uc001zoj.4_Silent_p.N763N|MAPKBP1_uc010bcj.3_Silent_p.N270N|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Silent_p.N270N	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	769								p.N763N(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGACCCAACCGGTGAGAAC	0.607													T	42111153	C	T	42111153	2	4	35	1	0	0	0	0	0	0	0	1	9367	506	18	2		2	MAPKBP1	15	42111153	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		42111153	60420239	72	2176											
ZSCAN29	146050	broad.mit.edu	37	chr15	43653907	43653907	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcccaagcaaggtctctgTtgacttaggacttcacttaa	10	13	7	11	0	3	1	1	1	2	0	5	2	3	2	1	2	1	2	1	2	4	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr15:43653907T>G	uc001zrk.1	-	4	2070	c.1923A>C	c.(1921-1923)caA>caC	p.Q641H	ZSCAN29_uc001zrj.1_Missense_Mutation_p.Q521H|ZSCAN29_uc010bdg.1_Missense_Mutation_p.Q251H|ZSCAN29_uc010bdf.1_3'UTR|ZSCAN29_uc001zrl.1_Non-coding_Transcript	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	641					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAGGTCTCTGTTGACTTAGGA	0.473													G	43653907	T	G	43653907	3	3	35	1	0	0	0	0	1	0	0	0	18333	1722	60	5	639	5	ZSCAN29	15	43653907	Missense_Mutation	SNP	T	TCGA-06-0174-01A-01D-1491-08	1542754	43653907	58877485	73	2177											
SSTR5	6755	broad.mit.edu	37	chr16	1129417	1129417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcggacgtgcaggagggCggtacctgcaacgccagctg	7	6	16	12	5	0	0	0	0	0	0	1	2	0	2	2	4	5	4	2	4	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:1129417C>T	uc021taf.1	+	1	620	c.549C>T	c.(547-549)ggC>ggT	p.G183G	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.G183G	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	183					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	TGCAGGAGGGCGGTACCTGCA	0.716													T	1129417	C	T	1129417	2	4	35	1	0	0	0	0	0	0	0	1	15297	755	27	1		1	SSTR5	16	1129417	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		1129417	89225336	74	2178											
TMC5	79838	broad.mit.edu	37	chr16	19451842	19451842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttggctccttagaacCggactaccctggagctcaga	9	11	9	12	1	2	2	2	0	0	2	3	4	3	4	3	3	3	2	3	3	3	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:19451842C>T	uc002dgc.4	+	2	1231	c.482C>T	c.(481-483)cCg>cTg	p.P161L	TMC5_uc010vaq.2_Missense_Mutation_p.P161L|TMC5_uc002dgb.4_Missense_Mutation_p.P161L|TMC5_uc010var.2_Missense_Mutation_p.P161L	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	161						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTTAGAACCGGACTACCCT	0.478													T	19451842	C	T	19451842	3	4	35	1	0	0	0	0	1	0	0	0	16088	652	23	1	484	1	TMC5	16	19451842	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	18322425	19451842	70902911	75	2179											
OTOA	146183	broad.mit.edu	37	chr16	21689852	21689852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgtctcaggaacctaCgacatactcccttttcctat	11	12	6	12	1	1	1	1	0	1	1	4	4	3	2	3	1	3	0	3	1	5	5	rs144912852		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:21689852C>T	uc002djh.3	+	0	18	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LOC23117_uc021tel.1_Intron	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	6					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CAGGAACCTACGACATACTCC	0.373													T	21689852	C	T	21689852	3	4	35	1	0	0	0	0	1	0	0	0	11378	536	19	1	19	1	OTOA	16	21689852	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	2238010	21689852	68664901	76	2180											
GTF3C1	2975	broad.mit.edu	37	chr16	27518426	27518426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctctcctctgcaaacaCgcaggaaatgtacttggtgg	9	10	11	11	2	2	0	0	0	2	0	4	1	2	1	1	3	3	4	1	3	3	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr16:27518426C>T	uc002dov.2	-	8	1334	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	GTF3C1_uc002dou.3_Missense_Mutation_p.V432M	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	432						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TCTGCAAACACGCAGGAAATG	0.552													T	27518426	C	T	27518426	3	4	35	1	0	0	0	0	1	0	0	0	6927	536	19	1	5151	1	GTF3C1	16	27518426	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	5828574	27518426	62836327	77	2181											
MFSD6L	162387	broad.mit.edu	37	chr17	8701786	8701786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattggctggattcccgggcCctttccccccaggaagcaag	8	8	11	14	1	0	0	0	0	0	0	2	2	2	2	5	4	1	2	5	4	3	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:8701786C>A	uc002glp.2	-	0	882	c.653G>T	c.(652-654)gGg>gTg	p.G218V		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	218						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						ATTCCCGGGCCCTTTCCCCCC	0.577													A	8701786	C	A	8701786	3	1	35	1	0	0	0	0	1	0	0	0	9611	623	22	4	1111	4	MFSD6L	17	8701786	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		8701786	72493424	78	2182											
UNC45B	146862	broad.mit.edu	37	chr17	33504108	33504108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacgctctagcaaagatcGctgctgtctccaatccggac	9	8	8	16	3	2	1	0	0	2	1	5	2	3	2	3	1	2	4	3	1	3	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:33504108G>A	uc002hja.3	+	15	2201	c.2104G>A	c.(2104-2106)Gct>Act	p.A702T	UNC45B_uc002hjb.3_Missense_Mutation_p.A700T|UNC45B_uc002hjc.3_Missense_Mutation_p.A700T|UNC45B_uc010cto.3_Missense_Mutation_p.A621T	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	702					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGCAAAGATCGCTGCTGTCTC	0.572													A	33504108	G	A	33504108	3	1	35	1	0	0	0	0	1	0	0	0	17091	1087	38	1	2162	1	UNC45B	17	33504108	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	24802322	33504108	47691102	79	2183											
SCN4A	6329	broad.mit.edu	37	chr17	62025418	62025418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcaatgtagatgtcctcGaaggcctgggggcaccagca	9	8	13	11	1	1	1	1	0	0	1	3	2	2	1	3	3	2	4	3	3	3	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:62025418G>A	uc002jds.1	-	16	3227	c.3150C>T	c.(3148-3150)ttC>ttT	p.F1050F		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1050					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGATGTCCTCGAAGGCCTGGG	0.602													A	62025418	G	A	62025418	2	1	35	1	0	0	0	0	0	0	0	1	14013	1049	37	1		1	SCN4A	17	62025418	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	28521310	62025418	19169792	80	2184											
AZI1	22994	broad.mit.edu	37	chr17	79170626	79170626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgaggtctcgctgctgcgCctgcagggtgtgggcagagg	4	8	19	10	3	1	2	0	1	1	1	2	2	1	2	1	4	3	4	1	4	0	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr17:79170626C>T	uc002jzp.1	-	15	1983	c.1783_splice	c.e15-1	p.A595_splice	AZI1_uc002jzm.1_Splice_Site_p.A22_splice|AZI1_uc002jzn.1_Splice_Site_p.A592_splice|AZI1_uc002jzo.1_Splice_Site_p.A592_splice|AZI1_uc010wum.1_Splice_Site_p.A595_splice|AZI1_uc002jzq.3_5'Flank	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	595					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGCTGCTGCGCCTGCAGGGTG	0.687													T	79170626	C	T	79170626	3	4	35	1	0	0	0	0	1	0	0	0	1245	753	26	2	1516	2	AZI1	17	79170626	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	17145208	79170626	2024584	81	2185											
FBN3	84467	broad.mit.edu	37	chr19	8162272	8162272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccattggcacagatggCggggatctccccacactcat	9	8	11	13	1	2	1	1	0	1	1	3	3	2	2	3	4	1	1	3	4	0	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:8162272C>T	uc002mjf.3	-	40	5205	c.5188G>A	c.(5188-5190)Gcc>Acc	p.A1730T		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1730	EGF-like 26; 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						GCACAGATGGCGGGGATCTCC	0.597													T	8162272	C	T	8162272	3	4	35	1	0	0	0	0	1	0	0	0	5753	768	27	1	3333	1	FBN3	19	8162272	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		8162272	50966711	82	2186											
UNC13A	23025	broad.mit.edu	37	chr19	17769035	17769035	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgttgctcgtttcactgcgGtagtcactgtcacgatcatc	6	14	9	12	3	4	0	4	0	0	0	6	1	4	0	0	1	2	4	0	1	1	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:17769035G>T	uc021uqk.1	-	8	645	c.603C>A	c.(601-603)taC>taA	p.Y201*		NM_001080421	NP_001073890	Q9UPW8	UN13A_HUMAN	Homo sapiens unc-13 homolog A (C. elegans) (UNC13A), mRNA.	201					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	p.Y289*(1)|p.Y201*(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TTTCACTGCGGTAGTCACTGT	0.562													T	17769035	G	T	17769035	4	4	35	1	0	0	0	0	0	1	0	0	17086	1256	44	4	4644	4	UNC13A	19	17769035	Nonsense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	9606763	17769035	41359948	83	2187											
MAG	4099	broad.mit.edu	37	chr19	35793483	35793483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagcagatcctgtccaCggtcatctacgagagcgagc	11	6	13	11	3	2	3	1	0	1	3	4	6	4	3	2	2	4	1	2	2	2	1	rs144554089		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:35793483C>T	uc002nyy.2	+	6	1301	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M	MAG_uc002nyx.2_Missense_Mutation_p.T368M|MAG_uc010eds.2_Missense_Mutation_p.T343M|MAG_uc002nyz.2_Missense_Mutation_p.T368M	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	368	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.T368M(2)|p.T368T(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCCTGTCCACGGTCATCTAC	0.582													T	35793483	C	T	35793483	3	4	35	1	0	0	0	0	1	0	0	0	9233	536	19	1	1121	1	MAG	19	35793483	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	18024448	35793483	23335500	84	2188											
RYR1	6261	broad.mit.edu	37	chr19	38958338	38958338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcggccgctggtacttCgagtttgaagcagtcaccac	9	8	12	12	3	1	2	1	1	0	1	2	3	1	2	2	2	3	4	2	2	2	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:38958338C>T	uc002oit.3	+	24	3397	c.3267C>T	c.(3265-3267)ttC>ttT	p.F1089F	RYR1_uc002oiu.3_Silent_p.F1089F	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	1089	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGTACTTCGAGTTTGAAG	0.592													T	38958338	C	T	38958338	2	4	35	1	0	0	0	0	0	0	0	1	13859	883	31	1		1	RYR1	19	38958338	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08	3164855	38958338	20170645	85	2189											
CYP2S1	29785	broad.mit.edu	37	chr19	41700569	41700569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggctgaggagttcagcGgccggggaaccgtagcgatg	8	6	18	9	4	2	1	2	1	0	0	2	4	2	3	2	5	3	3	2	5	2	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:41700569G>A	uc002opw.3	+	1	353	c.298G>A	c.(298-300)Ggc>Agc	p.G100S	CYP2S1_uc010xvx.2_5'UTR	NM_030622	NP_085125	Q96SQ9	CP2S1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily S, polypeptide 1 (CYP2S1), mRNA.	100					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity	p.G100S(2)|p.S99G(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						GGAGTTCAGCGGCCGGGGAAC	0.637													A	41700569	G	A	41700569	3	1	35	1	0	0	0	0	1	0	0	0	4207	1116	39	1	304	1	CYP2S1	19	41700569	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	2742231	41700569	17428414	86	2190											
SCAF1	58506	broad.mit.edu	37	chr19	50157645	50157645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggaagaagccaacctggCgagccgagcgaaggcccagg	12	2	16	11	3	0	1	0	0	0	1	0	6	0	2	4	4	4	0	4	4	4	0			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:50157645C>T	uc002poq.3	+	7	3480	c.3356C>T	c.(3355-3357)gCg>gTg	p.A1119V		NM_021228	NP_067051	Q9H7N4	SFR19_HUMAN	Homo sapiens SR-related CTD-associated factor 1 (SCAF1), mRNA.	1119					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		GCCAACCTGGCGAGCCGAGCG	0.607													T	50157645	C	T	50157645	3	4	35	1	0	0	0	0	1	0	0	0	13960	768	27	1	3382	1	SCAF1	19	50157645	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	8457076	50157645	8971338	87	2191											
NLRP13	126204	broad.mit.edu	37	chr19	56424553	56424553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcagttcctcatgttcGtcctttgatgtattacggat	6	16	9	10	3	1	1	1	1	0	0	4	2	3	2	2	1	2	5	2	1	2	5			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr19:56424553G>A	uc010ygg.2	-	4	655	c.630C>T	c.(628-630)gaC>gaT	p.D210D		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	210							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CCTCATGTTCGTCCTTTGATG	0.498													A	56424553	G	A	56424553	2	1	35	1	0	0	0	0	0	0	0	1	10551	1136	40	1		1	NLRP13	19	56424553	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	6266908	56424553	2704430	88	2192											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506102	44506102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatctttcctgctgcccGcatcctcctttccatctacc	5	13	6	17	1	2	1	0	0	2	1	6	2	6	1	6	1	3	2	6	1	1	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr20:44506102G>A	uc002xqd.3	+	1	1150	c.905G>A	c.(904-906)cGc>cAc	p.R302H	ZSWIM3_uc010zxg.2_Missense_Mutation_p.R296H	NM_080752	NP_542790	Q96MP5	ZSWM3_HUMAN	Homo sapiens zinc finger, SWIM-type containing 3 (ZSWIM3), transcript variant 1, mRNA.	302							zinc ion binding	p.A301A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				CCTGCTGCCCGCATCCTCCTT	0.502													A	44506102	G	A	44506102	3	1	35	1	0	0	0	0	1	0	0	0	18339	1087	38	1	911	1	ZSWIM3	20	44506102	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		44506102	18519418	89	2193											
KRTAP15-1	254950	broad.mit.edu	37	chr21	31812738	31812738	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttataatttgttctacccCagcaatgccatctattctcc	10	15	3	13	0	3	0	0	0	3	0	4	0	3	0	4	0	3	2	4	0	5	7			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr21:31812738C>A	uc002yod.3	+	0	93	c.93C>A	c.(91-93)ccC>ccA	p.P31P		NM_181623	NP_853654	Q3LI76	KR151_HUMAN	Homo sapiens keratin associated protein 15-1 (KRTAP15-1), mRNA.	31						intermediate filament				kidney(1)|large_intestine(3)|lung(6)|skin(1)	11						TGTTCTACCCCAGCAATGCCA	0.478													A	31812738	C	A	31812738	2	1	35	1	0	0	0	0	0	0	0	1	8584	581	21	4		4	KRTAP15-1	21	31812738	Silent	SNP	C	TCGA-06-0174-01A-01D-1491-08		31812738	16317157	90	2194											
DERL3	91319	broad.mit.edu	37	chr22	24179323	24179323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcctccaggaagtagtagAtatggcccaccgcaatccct	10	8	9	14	2	0	1	0	0	0	1	3	2	3	2	5	2	0	3	5	2	5	3			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:24179323A>G	uc002zyk.4	-	5	567	c.542T>C	c.(541-543)aTc>aCc	p.I181T	DERL3_uc002zyh.3_Missense_Mutation_p.I181T|DERL3_uc002zyi.3_Missense_Mutation_p.I181T|DERL3_uc002zyj.3_Silent_p.Y137Y|DERL3_uc021wmv.1_5'Flank	NM_001135751	NP_001129223	Q96Q80	DERL3_HUMAN	Homo sapiens Der1-like domain family, member 3 (DERL3), transcript variant 1, mRNA.	181					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						GAAGTAGTAGATATGGCCCAC	0.632													G	24179323	A	G	24179323	3	3	35	1	0	0	0	0	1	0	0	0	4487	333	12	3	287	3	DERL3	22	24179323	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08		24179323	27125243	91	2195											
SYN3	8224	broad.mit.edu	37	chr22	32909719	32909719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaagacttcctcaggttgCggatggtttcagccttggcc	8	11	11	11	1	2	1	2	0	0	1	3	2	3	2	3	4	2	2	3	4	2	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:32909719C>T	uc003amx.3	-	12	1865	c.1703G>A	c.(1702-1704)cGc>cAc	p.R568H	SYN3_uc003amy.3_3'UTR|SYN3_uc003amz.3_Missense_Mutation_p.R567H	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	568	E.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity	p.R568H(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CCTCAGGTTGCGGATGGTTTC	0.572													T	32909719	C	T	32909719	3	4	35	1	0	0	0	0	1	0	0	0	15539	768	27	1	43	1	SYN3	22	32909719	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	8730396	32909719	18394847	92	2196											
NAGA	4668	broad.mit.edu	37	chr22	42458918	42458918	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtccatgttctgggcGgagatggtacgcaggtctgt	8	11	15	7	2	2	2	0	0	2	2	3	3	3	2	1	4	1	3	1	4	2	2	rs144984228		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chr22:42458918G>A	uc003bbw.4	-	6	1415	c.870C>T	c.(868-870)tcC>tcT	p.S290S		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	290					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGTTCTGGGCGGAGATGGTAC	0.557													A	42458918	G	A	42458918	2	1	35	1	0	0	0	0	0	0	0	1	10217	1103	39	1		1	NAGA	22	42458918	Silent	SNP	G	TCGA-06-0174-01A-01D-1491-08	9549199	42458918	8845648	93	2197											
AMELX	265	broad.mit.edu	37	chrX	11316747	11316747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcccaacagcacccccCgactcacaccctgcagcctc	8	5	6	22	1	1	0	1	0	0	0	3	1	2	0	6	0	4	3	6	0	1	0	rs148259441		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:11316747C>T	uc004cus.3	+	5	334	c.266C>T	c.(265-267)cCg>cTg	p.P89L	ARHGAP6_uc004cup.1_Intron|ARHGAP6_uc004cuo.1_Intron|ARHGAP6_uc004cur.1_Intron|ARHGAP6_uc004cun.1_Intron|ARHGAP6_uc011mif.1_Intron|AMELX_uc004cut.3_Missense_Mutation_p.P75L|AMELX_uc004cuu.3_Missense_Mutation_p.P59L	NM_182680	NP_872621	Q99217	AMELX_HUMAN	Homo sapiens amelogenin, X-linked (AMELX), transcript variant 3, mRNA.	75					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel	p.P89T(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAGCACCCCCCGACTCACACC	0.602													T	11316747	C	T	11316747	3	4	35	1	0	0	0	0	1	0	0	0	569	652	23	1	284	1	AMELX	23	11316747	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08		11316747	143953813	94	2198											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698312	111698312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catatctgggcctgacaagaGtaccttactgaagcaatatg	13	10	9	9	0	1	3	0	2	1	1	1	3	1	3	2	1	3	2	2	1	7	4	rs149089921		TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:111698312G>C	uc022cct.1	+	0	356	c.356G>C	c.(355-357)aGt>aCt	p.S119T	ZCCHC16_uc004epo.1_Missense_Mutation_p.S119T	NM_001004308	NP_001004308	Q6ZR62	ZCH16_HUMAN	Homo sapiens zinc finger, CCHC domain containing 16 (ZCCHC16), mRNA.	119							nucleic acid binding|zinc ion binding	p.S119T(2)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCTGACAAGAGTACCTTACTG	0.383													C	111698312	G	C	111698312	3	2	35	1	0	0	0	0	1	0	0	0	17685	1029	36	4	358	4	ZCCHC16	23	111698312	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08	100381565	111698312	43572248	95	2199											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299765	125299765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgcaccagcctgcgaCgcgtcgccggccgcttctgc	5	7	13	16	6	1	0	0	0	1	0	2	2	1	0	4	1	4	2	4	1	1	2			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:125299765C>T	uc004euk.2	-	0	316	c.143G>A	c.(142-144)cGt>cAt	p.R48H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	48										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTGCGACGCGTCGCCGG	0.731													T	125299765	C	T	125299765	3	4	35	1	0	0	0	0	1	0	0	0	4299	536	19	1	1252	1	DCAF12L2	23	125299765	Missense_Mutation	SNP	C	TCGA-06-0174-01A-01D-1491-08	13601453	125299765	29970795	96	2200											
AFF2	2334	broad.mit.edu	37	chrX	147967460	147967460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagtgatgaagatgAccttgagcctgtgaagacct	11	9	13	8	0	0	8	0	6	0	2	0	8	0	8	3	0	2	2	3	0	2	1			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrX:147967460A>G	uc004fcp.3	+	7	1783	c.1304A>G	c.(1303-1305)gAc>gGc	p.D435G	AFF2_uc004fco.3_Missense_Mutation_p.D396G|AFF2_uc004fcq.3_Missense_Mutation_p.D425G|AFF2_uc004fcr.3_Missense_Mutation_p.D396G|AFF2_uc011mxb.2_Missense_Mutation_p.D400G|AFF2_uc004fcs.3_Missense_Mutation_p.D402G|AFF2_uc011mxc.2_Missense_Mutation_p.D76G	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	435					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GATGAAGATGACCTTGAGCCT	0.483													G	147967460	A	G	147967460	3	3	35	1	0	0	0	0	1	0	0	0	357	275	10	3	1389	3	AFF2	23	147967460	Missense_Mutation	SNP	A	TCGA-06-0174-01A-01D-1491-08	22667695	147967460	7303100	97	2201											
TGIF2LY	90655	broad.mit.edu	37	chrY	3447632	3447632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggatatgcttcaacagcGtagaaacgaccccatcattg	12	8	8	13	3	2	1	2	0	0	1	2	3	2	2	3	1	4	2	3	1	4	4			TCGA-06-0174-01A-01D-1491-08	TCGA-06-0174-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	017c9167-0354-41e4-ad50-fb38fcb5668c	aa54fbd5-8afc-454e-a9af-9f0d59e12853	g.chrY:3447632G>A	uc004fqk.3	+	1	411	c.347G>A	c.(346-348)cGt>cAt	p.R116H	TGIF2LY_uc022ciw.1_Missense_Mutation_p.R116H	NM_139214	NP_631960	Q8IUE0	TF2LY_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, Y-linked (TGIF2LY), mRNA.	116						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						CTTCAACAGCGTAGAAACGAC	0.527													A	3447632	G	A	3447632	3	1	35	1	0	0	0	0	1	0	0	0	15928	1145	40	1	349	1	TGIF2LY	24	3447632	Missense_Mutation	SNP	G	TCGA-06-0174-01A-01D-1491-08		3447632	55925934	98	2202											
SFT2D1	113402	broad.mit.edu	37	chr6	166739646	166739646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcacacagggtaaataTgaaacacaactacaggggaa	19	4	10	8	0	0	1	0	1	0	0	0	2	0	2	0	3	5	3	0	3	7	3	rs11551053	byFrequency	TCGA-06-0178-01A-01D-1491-08	TCGA-06-0178-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4fa779b-d116-4696-b170-60f3e215e9fb	c9f63961-b124-468a-bff1-62c1aedd1805	g.chr6:166739646T>C	uc003qux.3	-	4	347	c.325A>G	c.(325-327)Ata>Gta	p.I109V		NM_145169	NP_660152	Q8WV19	SFT2A_HUMAN	Homo sapiens SFT2 domain containing 1 (SFT2D1), mRNA.	109			I -> V (in dbSNP:rs11551053).		protein transport|vesicle-mediated transport	integral to membrane		p.I109V(2)		NS(1)|central_nervous_system(1)|large_intestine(3)|upper_aerodigestive_tract(1)	6		Breast(66;0.000148)|Prostate(117;0.109)|Ovarian(120;0.199)		OV - Ovarian serous cystadenocarcinoma(33;2.63e-19)|BRCA - Breast invasive adenocarcinoma(81;4.92e-06)|GBM - Glioblastoma multiforme(31;4.58e-05)		AGGGTAAATATGAAACACAAC	0.413													C	166739646	T	C	166739646	3	2	36	1	0	0	0	0	1	0	0	0	14278	1464	51	3	170	3	SFT2D1	6	166739646	Missense_Mutation	SNP	T	TCGA-06-0178-01A-01D-1491-08		166739646	4375421	1	2203											
MYO1D	4642	broad.mit.edu	37	chr17	31203857	31203857	+	Frame_Shift_Del	DEL	C	C	-																															gtccatcagcacgaagtctgCcttgccgaattccaggctct																										TCGA-06-0178-01A-01D-1491-08	TCGA-06-0178-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4fa779b-d116-4696-b170-60f3e215e9fb	c9f63961-b124-468a-bff1-62c1aedd1805	g.chr17:31203857delC	uc002hho.1	-	0	46	c.34delG	c.(34-36)gcafs	p.A12fs	MYO1D_uc002hhp.1_Frame_Shift_Del_p.A12fs|MYO1D_uc010wcb.2_Frame_Shift_Del_p.A12fs	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	12	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACGAAGTCTGCCTTGCCGAAT	0.726													-	31203857	C	-	31203857	7	5	36	1	0	1	0	1	0	0	0	0	10147	739	26	0	3074	0	MYO1D	17	31203857	Frame_Shift_Del	DEL	C	TCGA-06-0178-01A-01D-1491-08		31203857	49991353	2	2204											
SPSB1	80176	broad.mit.edu	37	chr1	9416221	9416221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgctatcaggggcaaaGtcgggtatacccgtgggctg	8	7	16	10	4	1	0	1	0	0	0	2	1	1	1	1	5	1	4	1	5	4	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:9416221G>A	uc010oae.2	+	1	610	c.271G>A	c.(271-273)Gtc>Atc	p.V91I	SPSB1_uc001apv.3_Missense_Mutation_p.V91I	NM_025106	NP_079382	Q96BD6	SPSB1_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 1 (SPSB1), mRNA.	91	B30.2/SPRY.				intracellular signal transduction	cytoplasm				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		CAGGGGCAAAGTCGGGTATAC	0.632													A	9416221	G	A	9416221	3	1	37	1	0	0	0	0	1	0	0	0	15208	1029	36	2	273	2	SPSB1	1	9416221	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		9416221	239834400	1	2205											
CYP4B1	1580	broad.mit.edu	37	chr1	47279693	47279693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctcaccccacatggcCgccgcttcctgcgggcctgc	4	7	11	19	3	1	0	1	0	0	0	2	0	2	0	6	3	2	2	6	3	0	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:47279693C>T	uc001cqn.4	+	5	817	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	CYP4B1_uc009vyl.1_Missense_Mutation_p.R81C|CYP4B1_uc001cqm.4_Missense_Mutation_p.R244C|CYP4B1_uc009vym.3_Missense_Mutation_p.R230C|CYP4B1_uc010omk.2_Missense_Mutation_p.R81C|CYP4B1_uc010oml.1_Missense_Mutation_p.R82C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	244					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.R244L(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCCACATGGCCGCCGCTTCCT	0.592													T	47279693	C	T	47279693	3	4	37	1	0	0	0	0	1	0	0	0	4218	652	23	1	755	1	CYP4B1	1	47279693	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	37863472	47279693	201970928	2	2206											
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-																															tctcccagtcccgcaaaggcTtttccccctccgctgcctcc																										TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:158151257delT	uc001frr.3	+	2	573	c.74delT	c.(73-75)cttfs	p.L25fs	CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592													-	158151257	T	-	158151257	7	5	37	1	0	1	0	1	0	0	0	0	3007	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-06-0184-01A-01D-1491-08	110871564	158151257	91099364	3	2207											
GPR161	23432	broad.mit.edu	37	chr1	168065791	168065791	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctggaagtcctctgtcGttgcacaaatggttcccgat	8	11	11	11	2	1	0	0	0	1	0	4	3	3	1	3	2	2	3	3	2	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:168065791G>A	uc010pln.2	-	3	1648	c.1114C>T	c.(1114-1116)Cga>Tga	p.R372*	GPR161_uc001gfb.3_Nonsense_Mutation_p.R220*|GPR161_uc001gfc.3_Nonsense_Mutation_p.R352*|GPR161_uc010pll.2_Nonsense_Mutation_p.R262*|GPR161_uc010plm.2_Nonsense_Mutation_p.R238*|GPR161_uc009wvo.3_Nonsense_Mutation_p.R369*|GPR161_uc001gfd.3_Nonsense_Mutation_p.R352*|GPR161_uc001gfe.1_Nonsense_Mutation_p.R352*	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	352					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GTCCTCTGTCGTTGCACAAAT	0.512													A	168065791	G	A	168065791	4	1	37	1	0	0	0	0	0	1	0	0	6719	1153	40	1	551	1	GPR161	1	168065791	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	9914534	168065791	81184830	4	2208											
HMCN1	83872	broad.mit.edu	37	chr1	186008959	186008959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattcctgccccaagtcTgacctggttgaaagatggga	10	10	12	9	0	1	3	0	2	1	1	2	4	2	4	4	3	1	2	4	3	3	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:186008959T>C	uc001grq.1	+	38	6357	c.6128T>C	c.(6127-6129)cTg>cCg	p.L2043P		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2043	Ig-like C2-type 18.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCCCCAAGTCTGACCTGGTTG	0.443													C	186008959	T	C	186008959	3	2	37	1	0	0	0	0	1	0	0	0	7275	1580	55	3	6282	3	HMCN1	1	186008959	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08	17943168	186008959	63241662	5	2209											
DSTYK	25778	broad.mit.edu	37	chr1	205129369	205129369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccacaccatactggccccGgcccagttcctgtcccagtt	7	9	7	18	1	0	0	0	0	0	0	2	0	2	0	7	2	2	2	7	2	2	4			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:205129369G>A	uc001hbw.3	-	7	2042	c.1978C>T	c.(1978-1980)Cgg>Tgg	p.R660W	DSTYK_uc001hbx.3_Missense_Mutation_p.R660W|DSTYK_uc001hby.1_Missense_Mutation_p.R121W	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	660	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TACTGGCCCCGGCCCAGTTCC	0.502													A	205129369	G	A	205129369	3	1	37	1	0	0	0	0	1	0	0	0	4824	1115	39	1	835	1	DSTYK	1	205129369	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	19120410	205129369	44121252	6	2210											
TRIM58	25893	broad.mit.edu	37	chr1	248023987	248023987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttgactcaggaggccaaCgtggggaaaaagactgtcat	12	7	13	9	1	2	2	2	1	0	1	2	4	2	4	2	4	1	0	2	4	3	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr1:248023987C>T	uc001ido.3	+	1	537	c.489C>T	c.(487-489)aaC>aaT	p.N163N		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	163						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGAGGCCAACGTGGGGAAAA	0.483													T	248023987	C	T	248023987	2	4	37	1	0	0	0	0	0	0	0	1	16632	535	19	1		1	TRIM58	1	248023987	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	42894618	248023987	1226634	7	2211											
GPR45	11250	broad.mit.edu	37	chr2	105859310	105859310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaatcaaaaaattccGcgaggcctgcatagagttgc	13	8	11	9	2	1	2	1	0	0	2	2	4	2	2	2	2	2	2	2	2	5	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:105859310G>A	uc002tco.1	+	0	1111	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	332						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	p.R332H(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						AAAAAATTCCGCGAGGCCTGC	0.557													A	105859310	G	A	105859310	3	1	37	1	0	0	0	0	1	0	0	0	6750	1087	38	1	997	1	GPR45	2	105859310	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		105859310	137340063	8	2212											
ITGA4	3676	broad.mit.edu	37	chr2	182360642	182360642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtttctcatataagggCaaggaagttccaggttacat	11	14	9	7	0	1	0	1	0	1	0	3	1	2	1	1	3	1	4	1	3	5	6			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:182360642C>T	uc002unu.3	+	13	2281	c.1518C>T	c.(1516-1518)ggC>ggT	p.G506G	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	506					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CATATAAGGGCAAGGAAGTTC	0.428													T	182360642	C	T	182360642	2	4	37	1	0	0	0	0	0	0	0	1	7936	697	25	2		2	ITGA4	2	182360642	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	76501332	182360642	60838731	9	2213											
ZDBF2	57683	broad.mit.edu	37	chr2	207175047	207175047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctaagcaaaaggggcGtgtggcttctcaatgccaga	10	8	12	11	1	1	1	1	0	1	1	3	1	2	1	3	3	2	2	3	3	4	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr2:207175047G>A	uc002vbp.2	+	4	6045	c.5795G>A	c.(5794-5796)cGt>cAt	p.R1932H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1932							nucleic acid binding|zinc ion binding	p.R1932L(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAAGGGGCGTGTGGCTTCT	0.433													A	207175047	G	A	207175047	3	1	37	1	0	0	0	0	1	0	0	0	17700	1145	40	1	5805	1	ZDBF2	2	207175047	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	24814405	207175047	36024326	10	2214											
THRB	7068	broad.mit.edu	37	chr3	24231704	24231704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgactgttcatttttcaaCgtgctgcgcctctctgaatg	7	14	9	11	3	3	1	2	1	1	0	4	3	3	1	1	0	3	2	1	0	2	3	rs138865141		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:24231704C>T	uc003ccz.4	-	5	664	c.144G>A	c.(142-144)acG>acA	p.T48T	THRB_uc010hfe.3_Silent_p.T48T|THRB_uc003ccy.4_Silent_p.T48T|THRB_uc003ccx.4_Silent_p.T48T|THRB_uc003cdc.3_Silent_p.T43T|THRB_uc003cdd.3_Silent_p.T43T|THRB_uc003cde.1_Silent_p.T43T|THRB_uc021wuc.1_Silent_p.T43T	NM_001252634	NP_001239563	P10828	THB_HUMAN	Homo sapiens thyroid hormone receptor, beta (THRB), transcript variant 4, mRNA.	48	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding	p.T48T(2)|p.T48M(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CATTTTTCAACGTGCTGCGCC	0.493													T	24231704	C	T	24231704	2	4	37	1	0	0	0	0	0	0	0	1	15975	523	19	1		1	THRB	3	24231704	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		24231704	173790726	11	2215											
BSN	8927	broad.mit.edu	37	chr3	49691996	49691996	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcagtggtagacctccgTacagctgtcaagcccactcc	9	8	9	15	1	1	1	1	0	0	1	3	1	3	1	4	1	4	4	4	1	3	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49691996T>C	uc003cxe.4	+	4	5121	c.5007T>C	c.(5005-5007)cgT>cgC	p.R1669R		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	1669					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TAGACCTCCGTACAGCTGTCA	0.597													C	49691996	T	C	49691996	2	2	37	1	0	0	0	0	0	0	0	1	1539	1625	57	3		3	BSN	3	49691996	Silent	SNP	T	TCGA-06-0184-01A-01D-1491-08	25460292	49691996	148330434	12	2216											
BSN	8927	broad.mit.edu	37	chr3	49693009	49693009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatcgggcagctcttccaggGtcctggacgagactcggcta	7	8	14	12	3	1	1	0	0	1	1	5	4	3	2	2	4	1	3	2	4	1	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:49693009G>A	uc003cxe.4	+	4	6134	c.6020G>A	c.(6019-6021)gGt>gAt	p.G2007D		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2007					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCTTCCAGGGTCCTGGACGA	0.597													A	49693009	G	A	49693009	3	1	37	1	0	0	0	0	1	0	0	0	1539	1261	44	2	6038	2	BSN	3	49693009	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	1013	49693009	148329421	13	2217											
CCDC66	285331	broad.mit.edu	37	chr3	56651395	56651395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaaatatcctaaaaGgcctgattggaatataaata	19	10	7	5	0	0	3	0	2	0	1	1	4	1	4	2	2	0	0	2	2	10	6			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:56651395G>A	uc003dhz.3	+	13	2186	c.2099G>A	c.(2098-2100)aGg>aAg	p.R700K	CCDC66_uc003dhy.3_Missense_Mutation_p.R336K|CCDC66_uc003dhu.3_Missense_Mutation_p.R666K|CCDC66_uc003dhx.3_Non-coding_Transcript|CCDC66_uc003dia.3_Missense_Mutation_p.R68K	NM_001141947	NP_001135419	A2RUB6	CCD66_HUMAN	Homo sapiens coiled-coil domain containing 66 (CCDC66), transcript variant 1, mRNA.	700										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		TATCCTAAAAGGCCTGATTGG	0.353													A	56651395	G	A	56651395	3	1	37	1	0	0	0	0	1	0	0	0	2866	1000	35	2	2153	2	CCDC66	3	56651395	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	6958386	56651395	141371035	14	2218											
CADPS	8618	broad.mit.edu	37	chr3	62860671	62860671	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcctcctccacgatctcatCcgattcttcttcgctggacg	5	13	6	17	4	3	0	1	0	3	0	9	3	7	1	4	1	0	1	4	1	0	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:62860671C>G	uc003dll.2	-	0	394	c.34G>C	c.(34-36)Gat>Cat	p.D12H	CADPS_uc003dlm.2_Missense_Mutation_p.D12H|CADPS_uc003dln.2_Missense_Mutation_p.D12H|CADPS_uc021wzv.1_Missense_Mutation_p.D12H	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	12					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACGATCTCATCCGATTCTTCT	0.697													G	62860671	C	G	62860671	3	3	37	1	0	0	0	0	1	0	0	0	2596	855	30	4	4220	4	CADPS	3	62860671	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	6209276	62860671	135161759	15	2219											
PDZRN3	23024	broad.mit.edu	37	chr3	73673955	73673955	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggtccacgtcgccgtcgaAgcggtccagctcgaagccca	7	5	13	16	7	0	0	0	0	0	0	5	2	2	0	4	2	3	1	4	2	2	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:73673955A>G	uc003dpl.1	-	0	118	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L		NM_015009	NP_055824	Q9UPQ7	PZRN3_HUMAN	Homo sapiens PDZ domain containing ring finger 3 (PDZRN3), mRNA.	8							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TCGCCGTCGAAGCGGTCCAGC	0.766													G	73673955	A	G	73673955	3	3	37	1	0	0	0	0	1	0	0	0	11785	72	3	3	3218	3	PDZRN3	3	73673955	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	10813284	73673955	124348475	16	2220											
CNTN3	5067	broad.mit.edu	37	chr3	74535739	74535739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctccattcaacttataacGatgttccatactcatatcaa	13	14	2	12	1	3	0	3	0	0	0	6	1	6	0	3	0	3	1	3	0	6	6			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:74535739G>A	uc003dpm.1	-	2	306	c.226C>T	c.(226-228)Cgt>Tgt	p.R76C		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	76	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AACTTATAACGATGTTCCATA	0.353													A	74535739	G	A	74535739	3	1	37	1	0	0	0	0	1	0	0	0	3673	1058	37	1	2940	1	CNTN3	3	74535739	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	861784	74535739	123486691	17	2221											
MCM2	4171	broad.mit.edu	37	chr3	127318380	127318380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagctcattggagatGgcatggaaaggtaatttcat	13	10	14	4	0	2	2	2	0	0	2	2	6	2	4	0	5	1	3	0	5	2	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr3:127318380G>A	uc003ejp.3	+	1	283	c.226G>A	c.(226-228)Ggc>Agc	p.G76S	MCM2_uc011bkm.2_5'UTR|MCM2_uc010hsl.3_Non-coding_Transcript	NM_004526	NP_004517	P49736	MCM2_HUMAN	Homo sapiens minichromosome maintenance complex component 2 (MCM2), mRNA.	76	Interaction with MYST2 (By similarity).				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						CATTGGAGATGGCATGGAAAG	0.567													A	127318380	G	A	127318380	3	1	37	1	0	0	0	0	1	0	0	0	9461	1348	47	2	232	2	MCM2	3	127318380	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	52782641	127318380	70704050	18	2222											
RUFY3	22902	broad.mit.edu	37	chr4	71644115	71644115	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaaccttcaggcaaaagTagatgcattagaaaaatcca	20	7	6	8	0	1	2	1	0	0	2	2	2	2	2	2	1	3	3	2	1	8	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:71644115T>A	uc003hfr.3	+	7	1449	c.854T>A	c.(853-855)gTa>gAa	p.V285E	RUFY3_uc003hfp.4_Missense_Mutation_p.V345E|RUFY3_uc003hfq.3_Missense_Mutation_p.V285E|RUFY3_uc011cax.2_Missense_Mutation_p.V303E|RUFY3_uc011cay.2_Missense_Mutation_p.V221E	NM_001037442	NP_001032519	Q7L099	RUFY3_HUMAN	Homo sapiens RUN and FYVE domain containing 3 (RUFY3), transcript variant 1, mRNA.	285					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			CAGGCAAAAGTAGATGCATTA	0.313													A	71644115	T	A	71644115	3	1	37	1	0	0	0	0	1	0	0	0	13831	1638	57	5	1246	5	RUFY3	4	71644115	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		71644115	119510161	19	2223											
LARP1B	55132	broad.mit.edu	37	chr4	128999066	128999066	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaaattaaatggtcctGgtgaaaacgtcagtgaggat	17	9	10	5	1	1	2	1	2	0	0	2	3	2	3	1	3	2	0	1	3	7	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:128999066G>C	uc003iga.3	+	3	297	c.166G>C	c.(166-168)Ggt>Cgt	p.G56R	LARP1B_uc003ifw.1_Missense_Mutation_p.G56R|LARP1B_uc003ifx.3_Missense_Mutation_p.G56R|LARP1B_uc003ify.3_Missense_Mutation_p.G56R|LARP1B_uc003ifz.1_Missense_Mutation_p.G56R	NM_018078	NP_060548	Q659C4	LAR1B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1B (LARP1B), transcript variant 1, mRNA.	56							RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						AAATGGTCCTGGTGAAAACGT	0.343													C	128999066	G	C	128999066	3	2	37	1	0	0	0	0	1	0	0	0	8688	1348	47	4	172	4	LARP1B	4	128999066	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	57354951	128999066	62155210	20	2224											
PHF17	79960	broad.mit.edu	37	chr4	129770219	129770219	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcctcccgagttgggCtatgtggacatccggacgct	6	10	13	12	3	1	1	0	1	1	0	3	4	3	3	3	3	1	3	3	3	1	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:129770219C>G	uc011cgy.2	+	4	695	c.381C>G	c.(379-381)ggC>ggG	p.G127G	PHF17_uc003igj.3_Silent_p.G127G|PHF17_uc003igk.3_Silent_p.G127G|PHF17_uc003igl.3_Silent_p.G115G|PHF17_uc003igm.3_Silent_p.G127G	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	127					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						CCGAGTTGGGCTATGTGGACA	0.488													G	129770219	C	G	129770219	2	3	37	1	0	0	0	0	0	0	0	1	11905	784	28	4		4	PHF17	4	129770219	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	771153	129770219	61384057	21	2225											
PCDH18	54510	broad.mit.edu	37	chr4	138442740	138442740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgttgggaattcttcccCtggaatgaacatgttactcc	8	14	9	10	1	1	1	0	1	1	0	3	3	3	3	3	2	3	2	3	2	4	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr4:138442740C>G	uc003ihe.4	-	3	3238	c.2851G>C	c.(2851-2853)Ggg>Cgg	p.G951R	PCDH18_uc003ihf.4_Missense_Mutation_p.G943R|PCDH18_uc011cgz.2_Missense_Mutation_p.G162R|PCDH18_uc003ihg.4_Missense_Mutation_p.G730R|PCDH18_uc011cha.2_Missense_Mutation_p.G131R	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	951	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.G951E(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					AATTCTTCCCCTGGAATGAAC	0.532													G	138442740	C	G	138442740	3	3	37	1	0	0	0	0	1	0	0	0	11589	681	24	4	560	4	PCDH18	4	138442740	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	8672521	138442740	52711536	22	2226											
CDH18	1016	broad.mit.edu	37	chr5	19747261	19747261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggatatcacccgtggtatCgtcaatgataaatatagtcc	12	12	9	8	2	2	1	2	1	0	0	4	2	3	2	2	2	0	1	2	2	7	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:19747261C>T	uc003jgd.3	-	3	847	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CDH18_uc011cnm.2_Missense_Mutation_p.D105N|CDH18_uc003jgc.3_Missense_Mutation_p.D105N|CDH18_uc021xwu.1_Missense_Mutation_p.D105N	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	105	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D104_D105>EY(3)|p.D105Y(3)|p.D104E(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CCCGTGGTATCGTCAATGATA	0.438													T	19747261	C	T	19747261	3	4	37	1	0	0	0	0	1	0	0	0	3133	884	31	1	2099	1	CDH18	5	19747261	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		19747261	161167999	23	2227											
ADAMTS12	81792	broad.mit.edu	37	chr5	33683134	33683134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgttacctcttcttcttCgagtagaatgagccgaacca	12	12	7	10	2	3	2	0	1	3	1	4	4	3	2	3	0	3	2	3	0	5	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:33683134C>T	uc003jia.1	-	4	1067	c.904G>A	c.(904-906)Gaa>Aaa	p.E302K	ADAMTS12_uc010iuq.1_Missense_Mutation_p.E302K	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	302	Peptidase M12B.|Poly-Glu.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTCTTCTTCGAGTAGAATG	0.423										HNSCC(64;0.19)			T	33683134	C	T	33683134	3	4	37	1	0	0	0	0	1	0	0	0	257	893	31	1	3960	1	ADAMTS12	5	33683134	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	13935873	33683134	147232126	24	2228											
MATR3	9782	broad.mit.edu	37	chr5	138657666	138657666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaagccctttggtttcaggGgagatgtgtgaaggttgacc	10	11	14	6	0	1	3	1	2	0	1	1	4	1	3	2	4	1	2	2	4	3	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:138657666G>A	uc003ldw.3	+	10	2085	c.1682G>A	c.(1681-1683)gGg>gAg	p.G561E	MATR3_uc003ldt.3_Missense_Mutation_p.G223E|MATR3_uc003ldu.3_Missense_Mutation_p.G561E|MATR3_uc010jfb.3_Missense_Mutation_p.G561E|MATR3_uc003ldx.3_Missense_Mutation_p.G561E|MATR3_uc003ldy.3_Missense_Mutation_p.G238E|MATR3_uc003ldz.3_Missense_Mutation_p.G561E|MATR3_uc011czb.2_Missense_Mutation_p.G273E|MATR3_uc003leb.3_Missense_Mutation_p.G223E|MATR3_uc003lec.3_Missense_Mutation_p.G238E	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	561	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGGTTTCAGGGGAGATGTGTG	0.348													A	138657666	G	A	138657666	3	1	37	1	0	0	0	0	1	0	0	0	9412	1232	43	2	1716	2	MATR3	5	138657666	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	104974532	138657666	42257594	25	2229											
PCDHGC5	5098	broad.mit.edu	37	chr5	140856716	140856716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggtggaggttgtggatGtgaatgacaacgccccggag	8	10	17	6	2	0	2	0	2	0	0	0	5	0	5	2	5	1	2	2	5	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:140856716G>A	uc003lkv.2	+	0	1148	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc003lkt.2_Intron|PCDHGC5_uc003lku.1_Missense_Mutation_p.V345M|PCDHGC5_uc003lkw.2_Intron	NM_002588	NP_002579	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily C, 3 (PCDHGC3), transcript variant 1, mRNA.	343	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTTGTGGATGTGAATGACAA	0.547													A	140856716	G	A	140856716	3	1	37	1	0	0	0	0	1	0	0	0	11647	1377	48	2		2	PCDHGC5	5	140856716	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	2199050	140856716	40058544	26	2230											
EBF1	1879	broad.mit.edu	37	chr5	158140057	158140057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgcccatcatccctgcGtggaccgaggtgttagcaag	8	9	11	13	3	2	0	2	0	0	0	3	2	3	1	3	2	2	2	3	2	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr5:158140057G>A	uc010jip.3	-	12	1592	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_uc011ddw.2_Silent_p.H298H|EBF1_uc011ddx.2_Silent_p.H431H|EBF1_uc003lxl.4_Silent_p.H399H	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	430					multicellular organismal development	nucleus	DNA binding|metal ion binding	p.H430Y(1)	HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								A	158140057	G	A	158140057	2	1	37	1	0	0	0	0	0	0	0	1	4919	1136	40	1		1	EBF1	5	158140057	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	17283341	158140057	22775203	27	2231											
FGD2	221472	broad.mit.edu	37	chr6	36993651	36993651	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtctgcctccactgctaCgcattcctcactggaaatgt	8	11	8	14	2	2	0	1	0	1	0	4	2	4	1	3	1	3	2	3	1	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:36993651C>T	uc010jwp.1	+	13	1713	c.1542C>T	c.(1540-1542)taC>taT	p.Y514Y	FGD2_uc003ong.2_Silent_p.Y236Y|FGD2_uc011dtv.1_Silent_p.Y142Y|FGD2_uc003onj.1_Silent_p.Y91Y	NM_173558	NP_775829	Q7Z6J4	FGD2_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 2 (FGD2), mRNA.	514					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						TCCACTGCTACGCATTCCTCA	0.612													T	36993651	C	T	36993651	2	4	37	1	0	0	0	0	0	0	0	1	5882	547	19	1		1	FGD2	6	36993651	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		36993651	134121416	28	2232											
REV3L	5980	broad.mit.edu	37	chr6	111696862	111696862	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctaacgttccatctccaAagtgacagtctataaaacca	14	12	4	11	1	3	1	0	1	3	0	5	1	4	1	3	0	2	1	3	0	5	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr6:111696862A>T	uc003puy.4	-	12	3037	c.2696T>A	c.(2695-2697)tTt>tAt	p.F899Y	REV3L_uc003pux.4_Missense_Mutation_p.F821Y|REV3L_uc003puz.4_Missense_Mutation_p.F821Y	NM_002912	NP_002903	O60673	DPOLZ_HUMAN	Homo sapiens REV3-like, catalytic subunit of DNA polymerase zeta (yeast) (REV3L), mRNA.	899					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCCATCTCCAAAGTGACAGTC	0.378								DNA polymerases (catalytic subunits)					T	111696862	A	T	111696862	3	4	37	1	0	0	0	0	1	0	0	0	13328	14	1	5	6776	5	REV3L	6	111696862	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	74703211	111696862	59418205	29	2233											
DNAH11	8701	broad.mit.edu	37	chr7	21698496	21698496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaagccatagtggcctaCgaggaaaaacctagggaact	16	5	11	9	1	0	1	0	0	0	1	0	4	0	3	3	3	4	0	3	3	7	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:21698496C>T	uc003svc.3	+	29	5221	c.5190C>T	c.(5188-5190)taC>taT	p.Y1730Y		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1730	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TAGTGGCCTACGAGGAAAAAC	0.443									Kartagener syndrome				T	21698496	C	T	21698496	2	4	37	1	0	0	0	0	0	0	0	1	4638	547	19	1		1	DNAH11	7	21698496	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		21698496	137440167	30	2234											
GNAT3	346562	broad.mit.edu	37	chr7	80088110	80088110	+	Frame_Shift_Del	DEL	T	T	-																															gaataaatttccttatcttcTttttttaaattcaggtctag																										TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:80088110delT	uc011kgu.2	-	7	942	c.942delA	c.(940-942)aaafs	p.K314fs	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	314					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCTTATCTTCTTTTTTTAAAT	0.328													-	80088110	T	-	80088110	7	5	37	1	0	1	0	1	0	0	0	0	6569	1606	56	0	124	0	GNAT3	7	80088110	Frame_Shift_Del	DEL	T	TCGA-06-0184-01A-01D-1491-08	58389614	80088110	79050553	31	2235											
ZAN	7455	broad.mit.edu	37	chr7	100364655	100364655	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccacctgcacagcctcGggtgacccccactacctgac	7	5	9	20	2	0	2	0	2	0	0	1	2	0	2	7	1	3	1	7	1	1	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:100364655G>T	uc003uwj.3	+	24	4800	c.4635G>T	c.(4633-4635)tcG>tcT	p.S1545S	ZAN_uc003uwk.3_Silent_p.S1545S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Silent_p.S122S	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1545	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GCACAGCCTCGGGTGACCCCC	0.607													T	100364655	G	T	100364655	2	4	37	1	0	0	0	0	0	0	0	1	17615	1103	39	4		4	ZAN	7	100364655	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	20276545	100364655	58774008	32	2236											
CUL1	8454	broad.mit.edu	37	chr7	148457457	148457457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgaagatgatgcatttGcaaagggccctacgttaaca	14	10	10	7	1	0	4	0	3	0	1	0	4	0	4	1	1	4	3	1	1	5	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr7:148457457G>A	uc010lpg.3	+	6	1184	c.658G>A	c.(658-660)Gca>Aca	p.A220T	CUL1_uc003wey.3_Missense_Mutation_p.A220T|CUL1_uc003wez.3_Missense_Mutation_p.A110T	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	220					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TGATGCATTTGCAAAGGGCCC	0.338													A	148457457	G	A	148457457	3	1	37	1	0	0	0	0	1	0	0	0	4087	1319	46	2	680	2	CUL1	7	148457457	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	48092802	148457457	10681206	33	2237											
CNTLN	54875	broad.mit.edu	37	chr9	17135249	17135249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgggtgggtgaagaaggGtcagggggccggcgagggcc	7	5	22	7	2	2	2	1	1	1	1	2	3	2	2	2	7	0	0	2	7	2	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:17135249G>A	uc003zmz.2	+	0	212	c.186G>A	c.(184-186)ggG>ggA	p.G62G	CNTLN_uc003zmx.4_Silent_p.G62G|CNTLN_uc003zmy.3_Silent_p.G62G|CNTLN_uc003zmw.2_Silent_p.G62G	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	62						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTGAAGAAGGGTCAGGGGGCC	0.672													A	17135249	G	A	17135249	2	1	37	1	0	0	0	0	0	0	0	1	3670	1248	44	2		2	CNTLN	9	17135249	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08		17135249	124078182	34	2238											
TEK	7010	broad.mit.edu	37	chr9	27229172	27229172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctacgtgaataccaCgctttatgagaagtttactt	12	12	7	10	2	0	3	0	2	0	2	0	4	0	3	3	0	3	2	3	0	6	7			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:27229172C>T	uc011lno.2	+	21	3630	c.3188C>T	c.(3187-3189)aCg>aTg	p.T1063M	TEK_uc003zqi.4_Missense_Mutation_p.T1106M|TEK_uc011lnp.2_Missense_Mutation_p.T958M	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1106	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.T1106M(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GTGAATACCACGCTTTATGAG	0.453													T	27229172	C	T	27229172	3	4	37	1	0	0	0	0	1	0	0	0	15851	536	19	1	3407	1	TEK	9	27229172	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	10093923	27229172	113984259	35	2239											
NFX1	4799	broad.mit.edu	37	chr9	33294757	33294757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagagtcaagaaagcacAgagtcttgctgagcagacct	14	8	10	9	0	3	5	2	1	1	4	3	5	3	5	1	0	3	3	1	0	3	2	rs147195056		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr9:33294757A>C	uc003zsr.3	+	1	518	c.365A>C	c.(364-366)cAg>cCg	p.Q122P	NFX1_uc011lnw.2_Missense_Mutation_p.Q122P|NFX1_uc003zso.3_Missense_Mutation_p.Q122P|NFX1_uc003zsp.2_Missense_Mutation_p.Q122P|NFX1_uc010mjr.2_Missense_Mutation_p.Q122P|NFX1_uc003zsq.3_Missense_Mutation_p.Q122P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	122					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAGAAAGCACAGAGTCTTGCT	0.483													C	33294757	A	C	33294757	3	2	37	1	0	0	0	0	1	0	0	0	10463	188	7	5	371	5	NFX1	9	33294757	Missense_Mutation	SNP	A	TCGA-06-0184-01A-01D-1491-08	6065585	33294757	107918674	36	2240											
ZNF33B	7582	broad.mit.edu	37	chr10	43088980	43088980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaaggatttcccacacTcaagacattcaaaaggtttc	16	9	6	10	0	2	1	2	0	0	1	4	3	3	2	1	2	0	1	1	2	5	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:43088980T>C	uc001jaf.1	-	4	1533	c.1418A>G	c.(1417-1419)gAg>gGg	p.E473G	ZNF33B_uc009xmg.1_Intron|ZNF33B_uc001jae.1_Intron|ZNF33B_uc001jag.1_Missense_Mutation_p.E361G|ZNF33B_uc001jad.3_Intron	NM_006955	NP_008886	Q06732	ZN33B_HUMAN	Homo sapiens zinc finger protein 33B (ZNF33B), mRNA.	473						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E473*(1)|p.E473Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTTCCCACACTCAAGACATTC	0.383													C	43088980	T	C	43088980	3	2	37	1	0	0	0	0	1	0	0	0	17956	1551	54	3	922	3	ZNF33B	10	43088980	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		43088980	92445767	37	2241											
PTEN	5728	broad.mit.edu	37	chr10	89653809	89653809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaaacattattgctatggGatttcctgcagaaagacttg	12	13	8	8	0	0	2	0	0	0	2	2	3	2	3	2	1	3	2	2	1	4	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr10:89653809G>A	uc001kfb.3	+	1	1139	c.107G>A	c.(106-108)gGa>gAa	p.G36E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	36	Phosphatase tensin-type.		G -> E (in glioma).|G -> R (in endometrial hyperplasia).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.G36E(8)|p.?(8)|p.G36R(4)|p.G36V(4)|p.G36fs*18(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36*(1)|p.M35R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATTGCTATGGGATTTCCTGCA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89653809	G	A	89653809	3	1	37	1	0	0	0	0	1	0	0	0	12823	1174	41	2	113	2	PTEN	10	89653809	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	46564829	89653809	45880938	38	2242											
MUC2	4583	broad.mit.edu	37	chr11	1101144	1101144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacggaggtcaaccctgccGacacctgctgcaacattacc	10	6	8	17	2	1	0	1	0	0	0	1	2	1	1	5	2	6	2	5	2	3	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:1101144G>A	uc001lsx.1	+	42	7558	c.7531G>A	c.(7531-7533)Gac>Aac	p.D2511N		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4877						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAACCCTGCCGACACCTGCTG	0.622													A	1101144	G	A	1101144	3	1	37	1	0	0	0	0	1	0	0	0	10051	1058	37	1	7697	1	MUC2	11	1101144	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		1101144	133905372	39	2243											
OR51T1	401665	broad.mit.edu	37	chr11	4903141	4903141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaaccatggcaatattCaataacaccacttcgtcttc	14	10	3	14	1	2	0	1	0	1	0	4	0	2	0	3	1	3	1	3	1	6	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:4903141C>A	uc010qyp.2	+	0	93	c.93C>A	c.(91-93)ttC>ttA	p.F31L		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCAATATTCAATAACACCA	0.368													A	4903141	C	A	4903141	3	1	37	1	0	0	0	0	1	0	0	0	11182	825	29	4	95	4	OR51T1	11	4903141	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	3801997	4903141	130103375	40	2244											
OR10A6	390093	broad.mit.edu	37	chr11	7949484	7949484	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagatgtgaggtgagcGgcacaggtggaaaaggcctt	11	7	16	7	1	1	3	1	2	0	1	1	4	1	4	1	5	1	1	1	5	2	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:7949484G>A	uc010rbh.2	-	0	726	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGTGAGCGGCACAGGTGG	0.453													A	7949484	G	A	7949484	2	1	37	1	0	0	0	0	0	0	0	1	10970	1103	39	1		1	OR10A6	11	7949484	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	3046343	7949484	127057032	41	2245											
MADD	8567	broad.mit.edu	37	chr11	47345856	47345856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggacagcatggagcGcgctgccgcccgacagcaaa	11	4	14	12	4	0	1	0	1	0	0	0	4	0	3	2	2	4	3	2	2	2	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:47345856G>A	uc001ner.1	+	31	4774	c.4583G>A	c.(4582-4584)cGc>cAc	p.R1528H	MADD_uc001neq.2_Missense_Mutation_p.R1469H|MADD_uc001nev.1_Missense_Mutation_p.R1426H|MADD_uc001nes.1_Missense_Mutation_p.R1446H|MADD_uc001net.1_Missense_Mutation_p.R1489H|MADD_uc009yln.1_Missense_Mutation_p.R1422H|MADD_uc001neu.1_Missense_Mutation_p.R1426H|MADD_uc001nez.2_Missense_Mutation_p.R1425H|MADD_uc001new.2_Missense_Mutation_p.R1468H|MADD_uc001nex.2_Missense_Mutation_p.R1528H|MADD_uc009ylo.3_Missense_Mutation_p.R442H	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	1528					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGCATGGAGCGCGCTGCCGCC	0.592													A	47345856	G	A	47345856	3	1	37	1	0	0	0	0	1	0	0	0	9223	1087	38	1	4705	1	MADD	11	47345856	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	39396372	47345856	87660660	42	2246											
MS4A7	58475	broad.mit.edu	37	chr11	60150731	60150731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaagattacctgcagaaCgggctgccaacagaaaccac	16	4	9	12	2	0	3	0	0	0	3	0	4	0	3	3	1	7	2	3	1	6	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:60150731C>T	uc001npe.3	+	1	262	c.117C>T	c.(115-117)aaC>aaT	p.N39N	MS4A7_uc001npf.3_Silent_p.N39N|MS4A7_uc001npg.3_Silent_p.N39N|MS4A7_uc001nph.3_Silent_p.N39N|MS4A14_uc001npi.3_Intron|MS4A7_uc009ymx.1_Silent_p.N39N	NM_206939	NP_996822	Q9GZW8	MS4A7_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 7 (MS4A7), transcript variant 3, mRNA.	39						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						ACCTGCAGAACGGGCTGCCAA	0.438													T	60150731	C	T	60150731	2	4	37	1	0	0	0	0	0	0	0	1	9942	535	19	1		1	MS4A7	11	60150731	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	12804875	60150731	74855785	43	2247											
NADSYN1	55191	broad.mit.edu	37	chr11	71191823	71191823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagggcgagcccctaccCcagagtgaaggtggactttg	9	6	14	12	1	0	2	0	1	0	1	0	4	0	3	4	3	3	1	4	3	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:71191823C>T	uc001oqn.3	+	10	1022	c.896C>T	c.(895-897)cCc>cTc	p.P299L	NADSYN1_uc001oqo.3_Missense_Mutation_p.P39L|NADSYN1_uc001oqp.3_5'UTR	NM_018161	NP_060631	Q6IA69	NADE_HUMAN	Homo sapiens NAD synthetase 1 (NADSYN1), mRNA.	299	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGCCCCTACCCCAGAGTGAAG	0.587													T	71191823	C	T	71191823	3	4	37	1	0	0	0	0	1	0	0	0	10214	623	22	2	938	2	NADSYN1	11	71191823	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	11041092	71191823	63814693	44	2248											
SPATA19	219938	broad.mit.edu	37	chr11	133714446	133714446	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctggccatgggtgggaggGgagtcagtggacatcttctc	6	10	16	9	0	3	0	1	0	2	0	5	3	4	3	2	6	0	0	2	6	0	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr11:133714446G>A	uc001qgv.1	-	2	276	c.225C>T	c.(223-225)tcC>tcT	p.S75S		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	75					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GGGTGGGAGGGGAGTCAGTGG	0.552													A	133714446	G	A	133714446	2	1	37	1	0	0	0	0	0	0	0	1	15100	1219	43	2		2	SPATA19	11	133714446	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08	62522623	133714446	1292070	45	2249											
C12orf50	160419	broad.mit.edu	37	chr12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaaggtgcattcaacGcgacagtcctgacagcatct	10	8	12	11	3	2	1	1	1	1	0	3	3	3	2	1	2	4	2	1	2	2	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr12:88379716G>A	uc001tam.1	-	10	1205	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_uc001tan.3_Missense_Mutation_p.A361V	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478													A	88379716	G	A	88379716	3	1	37	1	0	0	0	0	1	0	0	0	1708	1087	38	1	219	1	C12orf50	12	88379716	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		88379716	45472179	46	2250											
TPTE2	93492	broad.mit.edu	37	chr13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataataagtcgtagaagtcGaactaaatgtgtccatctaa	17	11	7	6	2	1	1	0	0	1	1	4	2	2	1	1	0	1	1	1	0	9	5			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													A	20039688	G	A	20039688	4	1	37	1	0	0	0	0	0	1	0	0	16532	1066	37	1	1091	1	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		20039688	95130190	47	2251											
ZC3H13	23091	broad.mit.edu	37	chr13	46544544	46544544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtccggagaatgttcaCgccggcgcttcggggactgt	6	9	14	12	5	1	1	1	0	0	1	3	3	2	2	2	4	0	2	2	4	1	2	rs144621814		TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:46544544C>T	uc010tfw.1	-	11	2531	c.2525G>A	c.(2524-2526)cGt>cAt	p.R842H	ZC3H13_uc001vaq.2_5'Flank|ZC3H13_uc001vas.1_Missense_Mutation_p.R842H|ZC3H13_uc001vat.1_Missense_Mutation_p.R842H	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	842	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGAATGTTCACGCCGGCGCTT	0.438													T	46544544	C	T	46544544	3	4	37	1	0	0	0	0	1	0	0	0	17666	536	19	1	2189	1	ZC3H13	13	46544544	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	26504856	46544544	68625334	48	2252											
RB1	5925	broad.mit.edu	37	chr13	49033823	49033823	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttttcttattcccacaGtgtatcggctagcctatctc	8	17	5	11	1	2	0	0	0	2	0	5	0	3	0	2	1	1	2	2	1	5	8			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr13:49033823G>T	uc001vcb.3	+	20	2127	c.1961_splice	c.e20-1	p.V654_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(16)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TATTCCCACAGTGTATCGGCT	0.363		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49033823	G	T	49033823	5	4	37	1	0	0	0	0	0	0	1	0	13186	1043	36	4	2038	4	RB1	13	49033823	Splice_Site	SNP	G	TCGA-06-0184-01A-01D-1491-08	2489279	49033823	66136055	49	2253											
SYNE2	23224	broad.mit.edu	37	chr14	64496750	64496750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgtggatcaaatagcGgttgaggaaaaattgcagaa	16	8	12	5	1	1	2	1	1	0	1	1	4	1	4	1	3	3	2	1	3	6	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:64496750G>A	uc001xgl.3	+	43	7082	c.6852G>A	c.(6850-6852)gcG>gcA	p.A2284A	SYNE2_uc001xgm.3_Silent_p.A2284A|SYNE2_uc021ruh.1_Silent_p.A2284A	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2284			A -> V (in dbSNP:rs4027402).		centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATCAAATAGCGGTTGAGGAAA	0.363													A	64496750	G	A	64496750	2	1	37	1	0	0	0	0	0	0	0	1	15543	1103	39	1		1	SYNE2	14	64496750	Silent	SNP	G	TCGA-06-0184-01A-01D-1491-08		64496750	42852790	50	2254											
PROX2	283571	broad.mit.edu	37	chr14	75329430	75329430	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaggaggggtgcctctGggaagatgagtcctggggag	7	8	19	7	0	2	3	0	2	2	1	3	6	3	6	2	6	1	0	2	6	1	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:75329430G>A	uc021rwo.1	-	0	1108	c.1108C>T	c.(1108-1110)Cag>Tag	p.Q370*	PROX2_uc001xqp.2_Nonsense_Mutation_p.Q370*|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	370					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGTGCCTCTGGGAAGATGAG	0.542													A	75329430	G	A	75329430	4	1	37	1	0	0	0	0	0	1	0	0	12647	1357	47	2	686	2	PROX2	14	75329430	Nonsense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	10832680	75329430	32020110	51	2255											
KCNK10	54207	broad.mit.edu	37	chr14	88729810	88729810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggaaatggacaggcgCggagttggagtcggagccgg	9	4	21	7	5	0	0	0	0	0	0	1	6	0	6	1	8	1	1	1	8	1	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr14:88729810C>T	uc001xwm.3	-	1	260	c.138G>A	c.(136-138)ccG>ccA	p.P46P	KCNK10_uc001xwn.3_Silent_p.P46P|KCNK10_uc001xwo.3_Silent_p.P41P	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	41					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.S46F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TGGACAGGCGCGGAGTTGGAG	0.652													T	88729810	C	T	88729810	2	4	37	1	0	0	0	0	0	0	0	1	8117	755	27	1		1	KCNK10	14	88729810	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	13400380	88729810	18619730	52	2256											
ISLR	3671	broad.mit.edu	37	chr15	74467595	74467595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctcaagatggacagcaaCgagctgaccttcatcccccg	10	8	9	14	2	2	2	2	1	0	1	3	4	3	3	3	1	4	3	3	1	2	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr15:74467595C>T	uc002axg.1	+	1	678	c.396C>T	c.(394-396)aaC>aaT	p.N132N	ISLR_uc002axh.1_Silent_p.N132N|ISLR_uc021sqf.1_Silent_p.N132N	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	132					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGGACAGCAACGAGCTGACCT	0.592													T	74467595	C	T	74467595	2	4	37	1	0	0	0	0	0	0	0	1	7916	535	19	1		1	ISLR	15	74467595	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		74467595	28063797	53	2257											
CHP2	63928	broad.mit.edu	37	chr16	23767768	23767768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaggcatgagatgctgCaggttggcagaaagcgagag	11	7	15	8	1	1	3	0	1	1	3	2	5	1	3	1	3	3	5	1	3	1	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:23767768C>T	uc002dmb.1	+	4	835	c.412C>T	c.(412-414)Cag>Tag	p.Q138*		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	138	EF-hand 3.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		TGAGATGCTGCAGGTTGGCAG	0.537													T	23767768	C	T	23767768	4	4	37	1	0	0	0	0	0	1	0	0	3397	711	25	2	430	2	CHP2	16	23767768	Nonsense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		23767768	66586985	54	2258											
CES1	1066	broad.mit.edu	37	chr16	55855414	55855414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgaccccagttcccccGgctgtgttcatcccctgtgc	4	10	10	17	1	1	1	1	1	0	0	3	1	3	1	6	2	1	3	6	2	0	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr16:55855414G>A	uc002eim.3	-	4	664	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	CES1_uc002eil.3_Missense_Mutation_p.R187W|CES1_uc002ein.3_Missense_Mutation_p.R186W	NM_001025194	NP_001020365	P23141	EST1_HUMAN	Homo sapiens carboxylesterase 1 (CES1), transcript variant 2, mRNA.	186				R -> G (in Ref. 18; CAA37147).	response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	CAGTTCCCCCGGCTGTGTTCA	0.602													A	55855414	G	A	55855414	3	1	37	1	0	0	0	0	1	0	0	0	3299	1115	39	1	1187	1	CES1	16	55855414	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	32087646	55855414	34499339	55	2259											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			T	7578457	C	T	7578457	3	4	37	1	0	0	0	0	1	0	0	0	16482	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		7578457	73616753	56	2260											
NF1	4763	broad.mit.edu	37	chr17	29665808	29665808	+	Frame_Shift_Del	DEL	G	G	-																															atagcactaaccaaattacaGccacttcttaataaggtaat																										TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:29665808delG	uc002hgg.3	+	45	7289	c.6906delG	c.(6904-6906)cagfs	p.Q2302fs	NF1_uc002hgh.3_Frame_Shift_Del_p.Q2281fs|NF1_uc010cso.3_Frame_Shift_Del_p.Q490fs|NF1_uc010wbt.1_Intron|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2302					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q2302fs*17(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAATTACAGCCACTTCTTA	0.333			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29665808	G	-	29665808	7	5	37	1	0	1	0	1	0	0	0	0	10432	962	34	0	7149	0	NF1	17	29665808	Frame_Shift_Del	DEL	G	TCGA-06-0184-01A-01D-1491-08	22087351	29665808	51529402	57	2261											
SLC25A39	51629	broad.mit.edu	37	chr17	42400868	42400868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagagaggtaaccacagcCccggtgcctgaggccaccat	12	4	12	13	1	0	3	0	1	0	2	0	4	0	3	6	3	3	1	6	3	2	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:42400868C>T	uc002ign.2	-	1	217	c.63G>A	c.(61-63)ggG>ggA	p.G21G	SLC25A39_uc002igm.2_Silent_p.G21G|SLC25A39_uc010wiw.1_Silent_p.G21G|SLC25A39_uc010wix.1_Silent_p.G21G|SLC25A39_uc010wiy.1_Silent_p.G21G	NM_001143780	NP_001137252	Q9BZJ4	S2539_HUMAN	Homo sapiens solute carrier family 25, member 39 (SLC25A39), transcript variant 1, mRNA.	21					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TAACCACAGCCCCGGTGCCTG	0.617													T	42400868	C	T	42400868	2	4	37	1	0	0	0	0	0	0	0	1	14597	610	22	2		2	SLC25A39	17	42400868	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	12735060	42400868	38794342	58	2262											
UNC13D	201294	broad.mit.edu	37	chr17	73827417	73827417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagtgtgtgggtccagagCagggtcaggaggctggggcg	6	7	22	6	1	1	2	1	1	0	1	2	3	2	3	1	6	1	2	1	6	0	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr17:73827417C>T	uc002jpp.3	-	25	2840	c.2460G>A	c.(2458-2460)ctG>ctA	p.L820L	UNC13D_uc010wsk.1_Silent_p.L820L|UNC13D_uc002jpq.1_3'UTR	NM_199242	NP_954712	Q70J99	UN13D_HUMAN	Homo sapiens unc-13 homolog D (C. elegans) (UNC13D), mRNA.	820	MHD2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGTCCAGAGCAGGGTCAGGA	0.667									Familial Hemophagocytic Lymphohistiocytosis				T	73827417	C	T	73827417	2	4	37	1	0	0	0	0	0	0	0	1	17089	697	25	2		2	UNC13D	17	73827417	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08	31426549	73827417	7367793	59	2263											
SEMA6B	10501	broad.mit.edu	37	chr19	4555533	4555533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggtcgtacgggcagcggGccataccgctgatgttgtct	5	10	16	10	4	1	1	0	1	1	0	2	1	1	1	2	4	3	4	2	4	2	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:4555533G>C	uc010dud.2	-	6	777	c.515C>G	c.(514-516)gCc>gGc	p.A172G	SEMA6B_uc010xih.1_Missense_Mutation_p.A172G	NM_032108	NP_115484	Q9H3T3	SEM6B_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B (SEMA6B), mRNA.	172	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CGGGCAGCGGGCCATACCGCT	0.622													C	4555533	G	C	4555533	3	2	37	1	0	0	0	0	1	0	0	0	14133	1203	42	4	2195	4	SEMA6B	19	4555533	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08		4555533	54573450	60	2264											
ILF3	3609	broad.mit.edu	37	chr19	10799315	10799315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacacgggggctacggcGgaggttctgggggcggctcc	4	6	20	11	4	2	0	1	0	1	0	3	1	3	1	1	9	1	3	1	9	1	2			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr19:10799315G>A	uc002mpn.3	+	18	2829	c.2512G>A	c.(2512-2514)Gga>Aga	p.G838R	ILF3_uc002mpo.3_Missense_Mutation_p.G842R|ILF3_uc002mpq.3_Silent_p.A140A	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	838	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GGGCTACGGCGGAGGTTCTGG	0.667													A	10799315	G	A	10799315	3	1	37	1	0	0	0	0	1	0	0	0	7770	1117	39	1	2666	1	ILF3	19	10799315	Missense_Mutation	SNP	G	TCGA-06-0184-01A-01D-1491-08	6243782	10799315	48329668	61	2265											
ANGPT4	51378	broad.mit.edu	37	chr20	858921	858921	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttctggtgagctggTgcaccacttcattgcccagc	5	11	10	15	0	2	1	1	1	1	0	2	1	2	1	3	2	5	2	3	2	0	3			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:858921T>A	uc002wei.3	-	6	1206	c.1103A>T	c.(1102-1104)cAc>cTc	p.H368L	ANGPT4_uc010zpn.2_Missense_Mutation_p.H362L	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	368	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGTGAGCTGGTGCACCACTTC	0.612													A	858921	T	A	858921	3	1	37	1	0	0	0	0	1	0	0	0	612	1696	59	5	420	5	ANGPT4	20	858921	Missense_Mutation	SNP	T	TCGA-06-0184-01A-01D-1491-08		858921	62166599	62	2266											
CHGB	1114	broad.mit.edu	37	chr20	5903619	5903619	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctctgaggtggacaaaCgacgcacgaggcccagacac	12	3	11	15	3	1	2	0	1	1	1	1	5	1	3	3	3	1	1	3	3	1	0			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr20:5903619C>T	uc002wmg.3	+	3	1135	c.829C>T	c.(829-831)Cga>Tga	p.R277*	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	277						extracellular region	hormone activity	p.R277*(2)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGTGGACAAACGACGCACGAG	0.607													T	5903619	C	T	5903619	4	4	37	1	0	0	0	0	0	1	0	0	3369	528	19	1	843	1	CHGB	20	5903619	Nonsense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08	5044698	5903619	57121901	63	2267											
EIF3L	51386	broad.mit.edu	37	chr22	38274115	38274115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaacctcgtgtggaccagCggtatctcagccctggatgg	9	8	13	11	2	1	1	1	0	1	1	3	3	1	3	3	4	3	1	3	4	3	1			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chr22:38274115C>T	uc003auf.3	+	10	1590	c.1512C>T	c.(1510-1512)agC>agT	p.S504S	EIF3L_uc011ann.2_Silent_p.S456S|EIF3L_uc003aug.3_Silent_p.S396S	NM_016091	NP_057175	Q9Y262	EIF3L_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit L (EIF3L), transcript variant 1, mRNA.	504						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TGTGGACCAGCGGTATCTCAG	0.522													T	38274115	C	T	38274115	2	4	37	1	0	0	0	0	0	0	0	1	5063	767	27	1		1	EIF3L	22	38274115	Silent	SNP	C	TCGA-06-0184-01A-01D-1491-08		38274115	13030451	64	2268											
BTK	695	broad.mit.edu	37	chrX	100611084	100611084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactccaggtattccatggCttcacagacatccttgcaca	10	11	7	13	0	1	2	1	1	0	1	4	2	4	2	3	2	1	3	3	2	1	4			TCGA-06-0184-01A-01D-1491-08	TCGA-06-0184-10B-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5a2e50f-dc7e-44cc-bffe-b675a707bf53	8f733c6d-f060-4e6b-8695-89f2b7174419	g.chrX:100611084C>T	uc010nno.2	-	14	1857	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BTK_uc004ehf.2_Missense_Mutation_p.A8T|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Missense_Mutation_p.A78T|BTK_uc004ehg.2_Missense_Mutation_p.A508T|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Missense_Mutation_p.A508T	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	508	Protein kinase.		L -> P (in XLA; growth hormone deficiency).		calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding	p.A508T(1)		breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TATTCCATGGCTTCACAGACA	0.547									Agammaglobulinemia, X-linked				T	100611084	C	T	100611084	3	4	37	1	0	0	0	0	1	0	0	0	1567	797	28	2	477	2	BTK	23	100611084	Missense_Mutation	SNP	C	TCGA-06-0184-01A-01D-1491-08		100611084	54659476	65	2269											
ACAP3	116983	broad.mit.edu	37	chr1	1229200	1229201	+	Splice_Site	DEL	CA	CA	-																															cccgagggcccggccgcgctCacagtgtcacgatgtcagcg																										TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:1229200_1229201delCA	uc001aeb.2	-	23	2434	c.2360_splice	c.e23+1	p.L787_splice	ACAP3_uc001ady.2_Splice_Site_p.L517_splice|ACAP3_uc001aea.2_Splice_Site_p.L712_splice	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	787					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CGGCCGCGCTCACAGTGTCACG	0.752													-	1229201	CA	-	1229200	8	5	38	1	0	1	0	1	0	0	1	0	120	841	29	0		0	ACAP3	1	1229200	Splice_Site	DEL	CA	TCGA-06-0185-01A-01W-0254-08		1229200	248021421	1	2270											
TMCO4	255104	broad.mit.edu	37	chr1	20027271	20027271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacagacctgcagtagcCgttgatgatcctcccggaca	9	9	11	12	2	0	3	0	2	0	1	2	5	2	5	4	2	2	3	4	2	1	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:20027271C>T	uc001bcn.3	-	13	1614	c.1372G>A	c.(1372-1374)Ggc>Agc	p.G458S	TMCO4_uc001bco.1_Missense_Mutation_p.G458S|TMCO4_uc001bcp.1_Missense_Mutation_p.G418S	NM_181719	NP_859070	Q5TGY1	TMCO4_HUMAN	Homo sapiens transmembrane and coiled-coil domains 4 (TMCO4), mRNA.	458						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGCAGTAGCCGTTGATGATC	0.567													T	20027271	C	T	20027271	3	4	38	1	0	0	0	0	1	0	0	0	16098	652	23	1	544	1	TMCO4	1	20027271	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	18798071	20027271	229223350	2	2271											
HOOK1	51361	broad.mit.edu	37	chr1	60299185	60299185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcttattttaggttgtGcgatcaactgtgaaaagaag	12	13	10	6	1	1	2	1	1	0	1	2	3	2	2	1	1	3	2	1	1	6	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:60299185G>A	uc009wad.3	+	5	484	c.382G>A	c.(382-384)Gcg>Acg	p.A128T	HOOK1_uc001czo.3_Missense_Mutation_p.A128T|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.A86T	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	128	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTTAGGTTGTGCGATCAACTG	0.373													A	60299185	G	A	60299185	3	1	38	1	0	0	0	0	1	0	0	0	7337	1319	46	2	400	2	HOOK1	1	60299185	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	40271914	60299185	188951436	3	2272											
RBMXL1	494115	broad.mit.edu	37	chr1	89448530	89448530	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcacttcggctgcttgagTaactgtctcgacttccacca	8	12	8	13	2	2	1	1	1	1	0	5	3	3	1	2	1	2	3	2	1	1	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:89448530T>A	uc021opo.1	-	0	980	c.980A>T	c.(979-981)tAc>tTc	p.Y327F	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.Y327F|RBMXL1_uc001dms.3_Missense_Mutation_p.Y327F	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	327	Ser-rich.						nucleotide binding|RNA binding										GCTGCTTGAGTAACTGTCTCG	0.517													A	89448530	T	A	89448530	3	1	38	1	0	0	0	0	1	0	0	0	13241	1638	57	5	196	5	RBMXL1	1	89448530	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	29149345	89448530	159802091	4	2273											
SPTA1	6708	broad.mit.edu	37	chr1	158622276	158622276	+	Frame_Shift_Del	DEL	T	T	-																															ccttttggaactcatcaaacTttttctgcagctcccaaaca																										TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:158622276delT	uc001fst.1	-	22	3555	c.3356delA	c.(3355-3357)aagfs	p.K1119fs		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1119					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATCAAACTTTTTCTGCAG	0.398													-	158622276	T	-	158622276	7	5	38	1	0	1	0	1	0	0	0	0	15212	1609	56	0	4023	0	SPTA1	1	158622276	Frame_Shift_Del	DEL	T	TCGA-06-0185-01A-01W-0254-08	69173746	158622276	90628345	5	2274											
DDR2	4921	broad.mit.edu	37	chr1	162749912	162749912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccaaagacttacctccCtcaaccagccatttgtcctg	9	11	5	16	0	1	1	1	0	0	1	4	1	4	1	6	0	3	1	6	0	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:162749912C>T	uc001gcf.3	+	18	2909	c.2444C>T	c.(2443-2445)cCt>cTt	p.P815L	DDR2_uc001gcg.3_Missense_Mutation_p.P815L|AF268386_uc001gch.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	815	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P815L(2)		central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTTACCTCCCTCAACCAGCC	0.438													T	162749912	C	T	162749912	3	4	38	1	0	0	0	0	1	0	0	0	4371	681	24	2	2506	2	DDR2	1	162749912	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	4127636	162749912	86500709	6	2275											
SMG7	9887	broad.mit.edu	37	chr1	183511445	183511445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttaccttcaaagaaaaCattaagacacgagaagtgaa	18	8	9	6	1	1	4	1	1	0	3	1	5	1	4	1	1	2	1	1	1	7	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:183511445C>T	uc001gqg.3	+	13	1900	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	SMG7_uc010pob.2_Silent_p.N579N|SMG7_uc021pga.1_Silent_p.N508N|SMG7_uc001gqf.3_Silent_p.N550N|SMG7_uc001gqh.3_Silent_p.N550N|SMG7_uc010poc.2_Silent_p.N508N	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	550					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						TCAAAGAAAACATTAAGACAC	0.428													T	183511445	C	T	183511445	2	4	38	1	0	0	0	0	0	0	0	1	14892	477	17	2		2	SMG7	1	183511445	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	20761533	183511445	65739176	7	2276											
HMCN1	83872	broad.mit.edu	37	chr1	185972975	185972975	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattggttcaaagatggcAagtgagtatcttttctgtat	10	17	9	5	0	4	2	2	1	2	1	4	2	4	2	0	2	0	4	0	2	4	7			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:185972975A>T	uc001grq.1	+	29	4704	c.4475_splice	c.e29+1	p.K1492_splice		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1492	Ig-like C2-type 12.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAAGATGGCAAGTGAGTATC	0.388													T	185972975	A	T	185972975	4	4	38	1	0	0	0	0	0	1	0	0	7275	144	5	5	4588	5	HMCN1	1	185972975	Nonsense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	2461530	185972975	63277646	8	2277											
USH2A	7399	broad.mit.edu	37	chr1	216373084	216373084	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggtcactgtaatgggCaagctgtgtaaacagccccc	9	9	12	11	0	1	0	1	0	0	0	1	0	1	0	2	2	3	5	2	2	4	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:216373084C>T	uc001hku.1	-	16	4083	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	USH2A_uc001hkv.3_Silent_p.L1232L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1232	Fibronectin type-III 2.				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)		CTGTAATGGGCAAGCTGTGTA	0.483										HNSCC(13;0.011)			T	216373084	C	T	216373084	2	4	38	1	0	0	0	0	0	0	0	1	17138	709	25	2		2	USH2A	1	216373084	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	30400109	216373084	32877537	9	2278											
ZP4	57829	broad.mit.edu	37	chr1	238053434	238053434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcttatccaggtgccaCagtcggagtcattctgcagc	7	13	9	12	1	3	0	1	0	2	0	5	1	4	1	2	2	3	1	2	2	1	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:238053434C>G	uc001hym.3	-	1	505	c.218G>C	c.(217-219)tGt>tCt	p.C73S	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	73					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCAGGTGCCACAGTCGGAGTC	0.562													G	238053434	C	G	238053434	3	3	38	1	0	0	0	0	1	0	0	0	18317	478	17	4	1448	4	ZP4	1	238053434	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	21680350	238053434	11197187	10	2279											
OR2W5	441932	broad.mit.edu	37	chr1	247654759	247654759	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgatgctgggctccacCgagtgcgtcctcctggttgt	5	12	12	12	2	0	1	0	1	0	0	3	2	3	1	4	2	3	3	4	2	1	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr1:247654759C>T	uc001icz.2	+	0	390	c.330C>T	c.(328-330)acC>acT	p.T110T		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T110T(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGGCTCCACCGAGTGCGTCC	0.607													T	247654759	C	T	247654759	2	4	38	1	0	0	0	0	0	0	0	1	11110	639	23	1		1	OR2W5	1	247654759	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	9601325	247654759	1595862	11	2280											
TCF23	150921	broad.mit.edu	37	chr2	27373157	27373157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacatagcccacctcacccGcacactcggccacgagttgc	9	6	7	19	3	1	0	1	0	0	0	2	1	1	0	4	1	3	2	4	1	2	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:27373157G>A	uc010ylg.2	+	1	446	c.389G>A	c.(388-390)cGc>cAc	p.R130H		NM_175769	NP_786951	Q7RTU1	TCF23_HUMAN	Homo sapiens transcription factor 23 (TCF23), mRNA.	130	Helix-loop-helix motif.				cell differentiation|muscle organ development|regulation of transcription, DNA-dependent	nucleus				large_intestine(2)|lung(11)|prostate(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTCACCCGCACACTCGGC	0.652													A	27373157	G	A	27373157	3	1	38	1	0	0	0	0	1	0	0	0	15792	1087	38	1	395	1	TCF23	2	27373157	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		27373157	215826216	12	2281											
PLB1	151056	broad.mit.edu	37	chr2	28764631	28764631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcaggagtccttcaccGtggttttccagcctttcttc	5	14	10	12	1	2	1	1	1	1	0	5	2	4	2	4	2	2	2	4	2	0	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:28764631G>A	uc002rmb.2	+	12	876	c.832G>A	c.(832-834)Gtg>Atg	p.V278M	PLB1_uc010ezj.2_Missense_Mutation_p.V289M	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	278	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity	p.T277T(2)|p.V278M(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTCCTTCACCGTGGTTTTCCA	0.592													A	28764631	G	A	28764631	3	1	38	1	0	0	0	0	1	0	0	0	12101	1145	40	1	915	1	PLB1	2	28764631	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	1391474	28764631	214434742	13	2282											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315522	73315544	+	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	AGCACTCAGCTCCTCCTGTCCAA	-																															ggggccaggactttagcctgAgcactcagctcctcctgtcc																								rs138135562		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:73315522_73315544delAGCACTCAGCTCCTCCTGTCCAA	uc002siu.4	-	2	1443_1465	c.1202_1224delTTGGACAGGAGGAGCTGAGTGCT	c.(1201-1224)cttggacaggaggagctgagtgctfs	p.L401fs	RAB11FIP5_uc002sit.4_Frame_Shift_Del_p.L323fs	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	401					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding	p.L406L(2)		biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTTTAGCCTGAGCACTCAGCTCCTCCTGTCCAAGCACTGCCTC	0.637													-	73315544	AGCACTCAGCTCCTCCTGTCCAA	-	73315522	7	5	38	1	0	1	0	1	0	0	0	0	12985	291	11	0	749	0	RAB11FIP5	2	73315522	Frame_Shift_Del	DEL	AGCACTCAGCTCCTCCTGTCCAA	TCGA-06-0185-01A-01W-0254-08	44550891	73315522	169883851	14	2283											
TTN	7273	broad.mit.edu	37	chr2	179455353	179455353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtttgatgggccGgcaagcttttattggatcag	7	13	14	7	1	1	1	1	1	0	0	2	2	2	2	2	5	1	3	2	5	2	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:179455353G>A	uc021vsy.1	-	252	53620	c.53395C>T	c.(53395-53397)Cgg>Tgg	p.R17799W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R11494W|TTN_uc021vta.1_Missense_Mutation_p.R11427W|TTN_uc021vtb.1_Missense_Mutation_p.R11302W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18726	Ig-like 104.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATGGGCCGGCAAGCTTTT	0.433													A	179455353	G	A	179455353	3	1	38	1	0	0	0	0	1	0	0	0	16837	1115	39	1	47116	1	TTN	2	179455353	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	106139831	179455353	63744020	15	2284											
STAT1	6772	broad.mit.edu	37	chr2	191862974	191862974	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcaagcattaaatacatcTtcttgagtaacagctgttct	12	15	6	8	0	4	1	1	1	3	0	4	1	4	1	0	0	4	4	0	0	5	6			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:191862974T>A	uc010fse.2	-	6	1034	c.602A>T	c.(601-603)aAg>aTg	p.K201M	STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Missense_Mutation_p.K201M|STAT1_uc002usk.2_Missense_Mutation_p.K201M|STAT1_uc002usl.2_Missense_Mutation_p.K203M|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	201					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity	p.K201M(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	TAAATACATCTTCTTGAGTAA	0.338													A	191862974	T	A	191862974	3	1	38	1	0	0	0	0	1	0	0	0	15360	1609	56	5	1726	5	STAT1	2	191862974	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	12407621	191862974	51336399	16	2285											
COL6A3	1293	broad.mit.edu	37	chr2	238283533	238283533	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgtactgcaccacggcCacgcggacccggtcctggcc	5	6	12	18	5	0	0	0	0	0	0	2	1	1	1	5	4	2	3	5	4	1	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr2:238283533C>T	uc002vwl.2	-	7	3486	c.3201G>A	c.(3199-3201)gtG>gtA	p.V1067V	COL6A3_uc002vwo.2_Silent_p.V861V|COL6A3_uc010znj.1_Silent_p.V460V|COL6A3_uc002vwq.3_Silent_p.V861V|COL6A3_uc002vwr.3_Silent_p.V660V	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1067	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCACCACGGCCACGCGGACCC	0.602													T	238283533	C	T	238283533	2	4	38	1	0	0	0	0	0	0	0	1	3732	581	21	2		2	COL6A3	2	238283533	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	46420559	238283533	4915840	17	2286											
FBLN2	2199	broad.mit.edu	37	chr3	13679197	13679197	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcattggccccgcgccagcCttcacgggggacaccatcgc	6	5	12	18	5	1	0	1	0	0	0	2	1	1	1	5	3	1	1	5	3	0	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:13679197C>A	uc011avc.2	+	17	3856	c.3474C>A	c.(3472-3474)gcC>gcA	p.A1158A	FBLN2_uc011auz.2_Silent_p.A1137A|FBLN2_uc011avb.2_Silent_p.A1111A|FBLN2_uc011ava.2_Silent_p.A1158A	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1111	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCGCGCCAGCCTTCACGGGGG	0.622													A	13679197	C	A	13679197	2	1	38	1	0	0	0	0	0	0	0	1	5748	668	24	4		4	FBLN2	3	13679197	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		13679197	184343233	18	2287											
C3orf67	200844	broad.mit.edu	37	chr3	58849423	58849423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttccatgaggtgctgatCgtggtcttgatgaaaaagtg	9	14	12	6	1	2	4	0	4	2	0	4	4	3	4	1	2	1	1	1	2	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:58849423C>T	uc003dkt.1	-	11	1488	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	C3orf67_uc003dks.1_Missense_Mutation_p.R175Q|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.R175Q|C3orf67_uc003dkw.3_Missense_Mutation_p.R255Q	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	360										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGTGCTGATCGTGGTCTTGA	0.473													T	58849423	C	T	58849423	3	4	38	1	0	0	0	0	1	0	0	0	2262	884	31	1	632	1	C3orf67	3	58849423	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	45170226	58849423	139173007	19	2288											
IQCB1	9657	broad.mit.edu	37	chr3	121489274	121489274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacatcaatctcatctccaGattcttctccaagcttcttc	10	14	3	14	0	6	1	2	0	5	1	10	2	6	1	2	0	2	1	2	0	3	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:121489274G>A	uc010hre.1	-	14	1930	c.1715C>T	c.(1714-1716)tCt>tTt	p.S572F	IQCB1_uc010hrf.1_Non-coding_Transcript|IQCB1_uc003eek.2_Missense_Mutation_p.S439F	NM_001023570	NP_001018864	Q15051	IQCB1_HUMAN	Homo sapiens IQ motif containing B1 (IQCB1), transcript variant 1, mRNA.	572					cilium assembly|maintenance of organ identity|photoreceptor cell maintenance	centrosome|photoreceptor connecting cilium	calmodulin binding			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		CTCATCTCCAGATTCTTCTCC	0.448													A	121489274	G	A	121489274	3	1	38	1	0	0	0	0	1	0	0	0	7861	942	33	2	85	2	IQCB1	3	121489274	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	62639851	121489274	76533156	20	2289											
AMOTL2	51421	broad.mit.edu	37	chr3	134080563	134080563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcctgctccagcagctCggcacgccgccgctggtcct	5	6	12	18	4	0	1	0	0	0	1	3	1	2	1	5	2	4	5	5	2	0	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134080563C>T	uc003eqf.2	-	5	1657	c.1540G>A	c.(1540-1542)Gag>Aag	p.E514K	AMOTL2_uc003eqg.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqh.1_Missense_Mutation_p.E456K|AMOTL2_uc003eqe.1_Missense_Mutation_p.E81K	NM_016201	NP_057285	Q9Y2J4	AMOL2_HUMAN	Homo sapiens angiomotin like 2 (AMOTL2), mRNA.	456										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						TCCAGCAGCTCGGCACGCCGC	0.652													T	134080563	C	T	134080563	3	4	38	1	0	0	0	0	1	0	0	0	584	893	31	1	996	1	AMOTL2	3	134080563	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12591289	134080563	63941867	21	2290											
EPHB1	2047	broad.mit.edu	37	chr3	134920443	134920443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctaggaacattctggtcaAcagtaacctggtgtgcaagg	11	10	12	8	0	2	0	1	0	1	0	2	1	2	1	1	4	5	3	1	4	5	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:134920443A>G	uc003eqt.3	+	11	2633	c.2258A>G	c.(2257-2259)aAc>aGc	p.N753S	EPHB1_uc003equ.3_Missense_Mutation_p.N314S	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	753	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.N753S(2)|p.N753N(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						ATTCTGGTCAACAGTAACCTG	0.552													G	134920443	A	G	134920443	3	3	38	1	0	0	0	0	1	0	0	0	5215	43	2	3	2304	3	EPHB1	3	134920443	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	839880	134920443	63101987	22	2291											
TRIM59	286827	broad.mit.edu	37	chr3	160156161	160156161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcaacgggttgaacctCaggaagtggtctttgtttca	10	14	10	7	1	4	1	3	1	1	0	4	2	4	2	1	3	2	2	1	3	4	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr3:160156161C>T	uc003fdm.3	-	2	1006	c.811G>A	c.(811-813)Gag>Aag	p.E271K	IFT80_uc003fda.3_Non-coding_Transcript|TRIM59_uc021xgt.1_Missense_Mutation_p.E271K	NM_173084	NP_775107	Q8IWR1	TRI59_HUMAN	Homo sapiens tripartite motif containing 59 (TRIM59), mRNA.	271						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GGTTGAACCTCAGGAAGTGGT	0.363													T	160156161	C	T	160156161	3	4	38	1	0	0	0	0	1	0	0	0	16633	835	29	2	404	2	TRIM59	3	160156161	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	25235718	160156161	37866269	23	2292											
SPATA5	166378	broad.mit.edu	37	chr4	123868606	123868606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaatagtgctcatggataCgttggagcagacttgaaagt	13	10	12	6	1	1	2	1	1	0	1	1	4	1	4	0	2	3	4	0	2	4	4	rs139834687	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:123868606C>T	uc003iez.4	+	8	1750	c.1677C>T	c.(1675-1677)taC>taT	p.Y559Y	SPATA5_uc003iey.3_Silent_p.Y558Y	NM_145207	NP_660208	Q8NB90	SPAT5_HUMAN	Homo sapiens spermatogenesis associated 5 (SPATA5), mRNA.	559					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity	p.Y559Y(2)		endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						CTCATGGATACGTTGGAGCAG	0.468													T	123868606	C	T	123868606	2	4	38	1	0	0	0	0	0	0	0	1	15107	547	19	1		1	SPATA5	4	123868606	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		123868606	67285670	24	2293											
PHF17	79960	broad.mit.edu	37	chr4	129770286	129770286	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgacatggatgctgcaTggctggaactgaccaatgaa	13	9	11	8	0	1	3	1	3	0	0	1	5	1	5	1	3	3	3	1	3	4	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:129770286T>A	uc011cgy.2	+	4	762	c.448T>A	c.(448-450)Tgg>Agg	p.W150R	PHF17_uc003igj.3_Missense_Mutation_p.W150R|PHF17_uc003igk.3_Missense_Mutation_p.W150R|PHF17_uc003igl.3_Missense_Mutation_p.W138R|PHF17_uc003igm.3_Missense_Mutation_p.W150R	NM_199320	NP_955352	Q6IE81	JADE1_HUMAN	Homo sapiens PHD finger protein 17 (PHF17), transcript variant L, mRNA.	150					apoptosis|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell growth|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	histone acetyltransferase complex|mitochondrion	protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGATGCTGCATGGCTGGAACT	0.468													A	129770286	T	A	129770286	3	1	38	1	0	0	0	0	1	0	0	0	11905	1464	51	5	462	5	PHF17	4	129770286	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	5901680	129770286	61383990	25	2294											
FNIP2	57600	broad.mit.edu	37	chr4	159789510	159789510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcattacggtgaggaaCgagcccgctcttgtaccccc	7	9	12	13	3	2	1	1	1	1	0	2	3	2	2	3	3	4	2	3	3	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr4:159789510C>T	uc003iqe.4	+	12	1905	c.1722C>T	c.(1720-1722)aaC>aaT	p.N574N		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	574	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		CGGTGAGGAACGAGCCCGCTC	0.537													T	159789510	C	T	159789510	2	4	38	1	0	0	0	0	0	0	0	1	6025	535	19	1		1	FNIP2	4	159789510	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	30019224	159789510	31364766	26	2295											
HEATR7B2	133558	broad.mit.edu	37	chr5	41052628	41052628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaatggccatccttccCgagcttcaatataggacttt	11	12	6	12	1	2	0	2	0	0	0	4	2	4	1	3	2	1	1	3	2	5	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:41052628C>T	uc003jmj.4	-	11	1659	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	HEATR7B2_uc003jmi.4_Intron	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	390							binding	p.R390L(2)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCATCCTTCCCGAGCTTCAAT	0.393													T	41052628	C	T	41052628	3	4	38	1	0	0	0	0	1	0	0	0	7090	652	23	1	3712	1	HEATR7B2	5	41052628	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		41052628	139862632	27	2296											
TRPC7	57113	broad.mit.edu	37	chr5	135692669	135692669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggctgagcgtcaggCgctggccctgcgcgaaggcc	5	4	17	15	5	1	1	1	1	0	0	1	2	1	1	3	4	3	2	3	4	1	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:135692669C>T	uc003lbn.2	-	1	629	c.407G>A	c.(406-408)cGc>cAc	p.R136H	TRPC7_uc010jef.2_Missense_Mutation_p.R127H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R136H|TRPC7_uc010jei.2_Missense_Mutation_p.R136H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	136					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGCGTCAGGCGCTGGCCCTG	0.672													T	135692669	C	T	135692669	3	4	38	1	0	0	0	0	1	0	0	0	16685	768	27	1	2225	1	TRPC7	5	135692669	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	94640041	135692669	45222591	28	2297											
UNC5A	90249	broad.mit.edu	37	chr5	176304269	176304269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctcacgctgcacaagccGgaagacgtgaggtgtggccg	9	6	14	12	4	1	2	1	1	0	1	1	3	1	3	3	3	3	2	3	3	3	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr5:176304269G>A	uc003mey.3	+	8	1647	c.1455G>A	c.(1453-1455)ccG>ccA	p.P485P		NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	485	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACAAGCCGGAAGACGTGA	0.652													A	176304269	G	A	176304269	2	1	38	1	0	0	0	0	0	0	0	1	17093	1103	39	1		1	UNC5A	5	176304269	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	40611600	176304269	4610991	29	2298											
ATXN1	6310	broad.mit.edu	37	chr6	16306892	16306892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagtgcttcagcaggaCgctggcgggatccacgggct	6	9	15	11	3	1	1	1	1	0	0	2	3	2	3	1	4	2	4	1	4	0	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:16306892C>T	uc003nbt.3	-	8	3087	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	ATXN1_uc010jpi.3_Missense_Mutation_p.V706I|ATXN1_uc010jpj.1_Non-coding_Transcript	NM_000332	NP_001121636	P54253	ATX1_HUMAN	Homo sapiens ataxin 1 (ATXN1), transcript variant 1, mRNA.	706	Interaction with USP7.|RNA-binding.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TTCAGCAGGACGCTGGCGGGA	0.582													T	16306892	C	T	16306892	3	4	38	1	0	0	0	0	1	0	0	0	1214	536	19	1	335	1	ATXN1	6	16306892	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		16306892	154808175	30	2299											
MICB	4277	broad.mit.edu	37	chr6	31474865	31474865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccgtgacatgcagggCttccagcttctatccccgga	8	9	9	15	2	2	1	1	1	1	0	4	2	4	2	4	2	2	3	4	2	1	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:31474865C>T	uc003ntn.4	+	3	796	c.680C>T	c.(679-681)gCt>gTt	p.A227V	MICB_uc011dnm.2_Missense_Mutation_p.A195V|MICB_uc021yuq.1_Missense_Mutation_p.A195V|MICB_uc003nto.4_Missense_Mutation_p.A184V	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	227	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACATGCAGGGCTTCCAGCTTC	0.587													T	31474865	C	T	31474865	3	4	38	1	0	0	0	0	1	0	0	0	9650	797	28	2	694	2	MICB	6	31474865	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	15167973	31474865	139640202	31	2300											
KATNA1	11104	broad.mit.edu	37	chr6	149918283	149918283	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcatcagccaattccAactcacgtagacttattcgt	13	11	4	13	2	3	1	3	0	0	1	5	1	4	1	2	0	3	1	2	0	5	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:149918283A>C	uc003qmr.2	-	8	1238	c.1193T>G	c.(1192-1194)tTg>tGg	p.L398W	KATNA1_uc003qms.3_Missense_Mutation_p.L398W|KATNA1_uc003qmt.3_Intron	NM_007044	NP_008975	O75449	KTNA1_HUMAN	Homo sapiens katanin p60 (ATPase containing) subunit A 1 (KATNA1), transcript variant 1, mRNA.	398					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCCAATTCCAACTCACGTAG	0.388													C	149918283	A	C	149918283	3	2	38	1	0	0	0	0	1	0	0	0	8042	131	5	5	290	5	KATNA1	6	149918283	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	118443418	149918283	21196784	32	2301											
SYTL3	94120	broad.mit.edu	37	chr6	159178400	159178400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtccttccgctggcatcCgctccgggccaaggtgatgt	6	9	12	14	3	0	1	0	1	0	0	4	1	4	1	5	3	0	3	5	3	1	1	rs147104644		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:159178400C>T	uc003qrp.3	+	14	1694	c.1295C>T	c.(1294-1296)cCg>cTg	p.P432L	SYTL3_uc003qrr.3_Missense_Mutation_p.P432L|SYTL3_uc003qro.3_Missense_Mutation_p.P364L|SYTL3_uc003qrs.3_Missense_Mutation_p.P364L|SYTL3_uc011efq.2_Missense_Mutation_p.P158L	NM_001242384	NP_001229313	Q4VX76	SYTL3_HUMAN	Homo sapiens synaptotagmin-like 3 (SYTL3), transcript variant 1, mRNA.	432					intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGCTGGCATCCGCTCCGGGCC	0.527													T	159178400	C	T	159178400	3	4	38	1	0	0	0	0	1	0	0	0	15581	652	23	1	1125	1	SYTL3	6	159178400	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	9260117	159178400	11936667	33	2302											
MLLT4	4301	broad.mit.edu	37	chr6	168363130	168363130	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tagttgcaggacgaggagcgGaggcggcagcagcagttaga	11	5	18	7	3	0	1	0	0	0	1	0	5	0	4	0	5	4	6	0	5	2	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363130G>C	uc021zik.1	+	29	5020	c.4701G>C	c.(4699-4701)cgG>cgC	p.R1567R	MLLT4_uc003qwc.2_Silent_p.R1608R|MLLT4_uc021zij.1_Silent_p.R1593R|MLLT4_uc021zim.1_Silent_p.R1167R|MLLT4_uc003qwg.1_Silent_p.R919R|MLLT4_uc021zin.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1610					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		ACGAGGAGCGGAGGCGGCAGC	0.547			T	MLL	AL								C	168363130	G	C	168363130	2	2	38	1	0	0	0	0	0	0	0	1	9704	1161	41	4		4	MLLT4	6	168363130	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	9184730	168363130	2751937	34	2303											
MLLT4	4301	broad.mit.edu	37	chr6	168363191	168363191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggaagaccgagcgaggcaaGaggaagagcgccggcggcag	12	0	19	10	6	0	3	0	0	0	3	0	7	0	5	2	5	2	2	2	5	3	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr6:168363191G>C	uc021zik.1	+	29	5081	c.4762G>C	c.(4762-4764)Gag>Cag	p.E1588Q	MLLT4_uc003qwc.2_Missense_Mutation_p.E1629Q|MLLT4_uc021zij.1_Missense_Mutation_p.E1614Q|MLLT4_uc021zim.1_Missense_Mutation_p.E1188Q|MLLT4_uc003qwg.1_Missense_Mutation_p.E940Q|MLLT4_uc021zin.1_Non-coding_Transcript	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1631	Asp/Glu-rich (acidic).				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGCGAGGCAAGAGGAAGAGCG	0.542			T	MLL	AL								C	168363191	G	C	168363191	3	2	38	1	0	0	0	0	1	0	0	0	9704	943	33	4	5121	4	MLLT4	6	168363191	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	61	168363191	2751876	35	2304											
ABCB5	340273	broad.mit.edu	37	chr7	20689724	20689724	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatggcagtgggaagagtaCggtagtccagcttctgcaga	11	8	14	8	1	1	2	0	0	1	2	2	3	2	3	1	3	3	5	1	3	4	3	rs144527025	by1000genomes	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:20689724C>T	uc010kuh.3	+	11	1523	c.1286C>T	c.(1285-1287)aCg>aTg	p.T429M	ABCB5_uc003suw.4_5'UTR|ABCB5_uc003suv.4_5'UTR|ABCB5_uc011jyi.1_5'UTR	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	613	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGGAAGAGTACGGTAGTCCAG	0.468													T	20689724	C	T	20689724	1	4	38	1	0	0	0	0	0	0	0	0	44	536	19	1		1	ABCB5	7	20689724	Translation_Start_Site	SNP	C	TCGA-06-0185-01A-01W-0254-08		20689724	138448939	36	2305											
EGFR	1956	broad.mit.edu	37	chr7	55240707	55240707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtccatcgccactgggatgGtgggggccctcctcttgctg	3	10	14	14	2	1	0	0	0	1	0	4	1	3	1	4	4	1	1	4	4	0	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55240707G>A	uc003tqk.3	+	16	2197	c.1951G>A	c.(1951-1953)Gtg>Atg	p.V651M	EGFR_uc022adm.1_Missense_Mutation_p.V651M|EGFR_uc010kzg.2_Missense_Mutation_p.V606M|EGFR_uc022adn.1_Missense_Mutation_p.V606M|EGFR_uc011kco.2_Missense_Mutation_p.V598M	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	651					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V651M(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACTGGGATGGTGGGGGCCCT	0.622		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55240707	G	A	55240707	3	1	38	1	0	0	0	0	1	0	0	0	5006	1261	44	2	2281	2	EGFR	7	55240707	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	34550983	55240707	103897956	37	2306											
SEPT14	346288	broad.mit.edu	37	chr7	55874788	55874788	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttttactcacctaacTggctggttgtttggacccac	9	15	7	10	0	1	0	1	0	0	0	1	1	1	1	2	3	2	3	2	3	4	7			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:55874788T>A	uc003tqz.2	-	7	1098	c.981A>T	c.(979-981)ccA>ccT	p.P327P		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	327					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCACCTAACTGGCTGGTTGT	0.348													A	55874788	T	A	55874788	2	1	38	1	0	0	0	0	0	0	0	1	14156	1567	55	5		5	SEPT14	7	55874788	Silent	SNP	T	TCGA-06-0185-01A-01W-0254-08	634081	55874788	103263875	38	2307											
DYNC1I1	1780	broad.mit.edu	37	chr7	95499217	95499217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactgcataaactgggcGtgtcaaaggtcacccaagtg	13	7	12	9	1	2	1	2	0	0	1	2	2	2	1	1	2	2	1	1	2	5	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:95499217G>A	uc003uoc.4	+	5	725	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	DYNC1I1_uc003uod.4_Missense_Mutation_p.V133M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V113M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V130M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V139M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	150					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TAAACTGGGCGTGTCAAAGGT	0.453													A	95499217	G	A	95499217	3	1	38	1	0	0	0	0	1	0	0	0	4881	1145	40	1	466	1	DYNC1I1	7	95499217	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	39624429	95499217	63639446	39	2308											
RABL5	64792	broad.mit.edu	37	chr7	100959700	100959700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgtgtcctgtaaggaCggctgttggacaaagcagga	10	9	14	8	1	0	0	0	0	0	0	1	3	1	3	1	4	1	4	1	4	2	2	rs145991606	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:100959700C>T	uc003uyl.3	-	3	433	c.330G>A	c.(328-330)ccG>ccA	p.P110P	RABL5_uc011kkk.2_Silent_p.P33P|RABL5_uc011kkl.2_Silent_p.P33P|RABL5_uc003uym.3_Silent_p.P80P|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Silent_p.P110P	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	110							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CCTGTAAGGACGGCTGTTGGA	0.473													T	100959700	C	T	100959700	2	4	38	1	0	0	0	0	0	0	0	1	13061	523	19	1		1	RABL5	7	100959700	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	5460483	100959700	58178963	40	2309											
LAMB4	22798	broad.mit.edu	37	chr7	107671256	107671256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagaactaatgaccttctCaagactcccagcctggtgtt	10	11	9	11	0	1	3	1	1	1	2	3	3	2	3	3	2	2	2	3	2	4	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:107671256C>T	uc010ljo.1	-	31	5071	c.4987G>A	c.(4987-4989)Gag>Aag	p.E1663K	LAMB4_uc003vey.2_Missense_Mutation_p.E1663K|LAMB4_uc010ljp.1_Missense_Mutation_p.E632K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1663	Domain I.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATGACCTTCTCAAGACTCCCA	0.473													T	107671256	C	T	107671256	3	4	38	1	0	0	0	0	1	0	0	0	8672	835	29	2	310	2	LAMB4	7	107671256	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	6711556	107671256	51467407	41	2310											
BRAF	673	broad.mit.edu	37	chr7	140453148	140453148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagatttcactgtagctagaCcaaaatcacctatttttact	13	14	5	9	0	2	2	2	0	0	2	2	3	2	2	2	0	2	2	2	0	6	7			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr7:140453148C>T	uc003vwc.4	-	14	1848	c.1787G>A	c.(1786-1788)gGt>gAt	p.G596D		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	596	Protein kinase.		G -> R (in a colorectal adenocarcinoma sample; somatic mutation).|G -> V (in CFC syndrome).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.F595L(8)|p.G596R(6)|p.G596D(4)|p.F595S(3)|p.G596fs*2(1)|p.D594_T599del(1)|p.G596S(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TGTAGCTAGACCAAAATCACC	0.388		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453148	C	T	140453148	3	4	38	1	0	0	0	0	1	0	0	0	1505	507	18	2	529	2	BRAF	7	140453148	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	32781892	140453148	18685515	42	2311											
ADAM9	8754	broad.mit.edu	37	chr8	38873654	38873654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagaatcattgtcattatcgGggctatgtggagggagttca	10	13	13	5	1	3	1	3	0	0	1	4	3	3	3	0	4	0	2	0	4	4	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:38873654G>A	uc003xmr.3	+	4	429	c.351G>A	c.(349-351)cgG>cgA	p.R117R	ADAM9_uc010lwr.3_Non-coding_Transcript|ADAM9_uc011lcf.2_Non-coding_Transcript|ADAM9_uc011lcg.2_Non-coding_Transcript	NM_003816	NP_003807	Q13443	ADAM9_HUMAN	Homo sapiens ADAM metallopeptidase domain 9 (ADAM9), transcript variant 1, mRNA.	117				Missing (in Ref. 2; no nucleotide entry).|R -> Q (in Ref. 4; BAA03499).	activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding	p.R117L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTCATTATCGGGGCTATGTGG	0.338													A	38873654	G	A	38873654	2	1	38	1	0	0	0	0	0	0	0	1	253	1219	43	2		2	ADAM9	8	38873654	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08		38873654	107490368	43	2312											
RP1	6101	broad.mit.edu	37	chr8	55539225	55539225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacataaatccatatccaaCtttaaagcctataaaatcag	19	10	3	9	0	1	0	1	0	0	0	3	1	3	0	3	0	3	0	3	0	10	6			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:55539225C>A	uc003xsd.1	+	3	2931	c.2783C>A	c.(2782-2784)aCt>aAt	p.T928N	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	928					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATATCCAACTTTAAAGCCT	0.328													A	55539225	C	A	55539225	3	1	38	1	0	0	0	0	1	0	0	0	13623	565	20	4	2793	4	RP1	8	55539225	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	16665571	55539225	90824797	44	2313											
RALYL	138046	broad.mit.edu	37	chr8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaattccgctgaagcGtcccagagtggcagtcacaa	11	8	11	11	2	1	2	1	1	0	1	3	2	3	2	2	1	2	4	2	1	3	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:85774590G>A	uc003yct.4	+	5	646	c.512G>A	c.(511-513)cGt>cAt	p.R171H	RALYL_uc003ycq.4_Missense_Mutation_p.R158H|RALYL_uc003ycr.4_Missense_Mutation_p.R158H|RALYL_uc003ycs.4_Missense_Mutation_p.R158H|RALYL_uc010lzy.3_Missense_Mutation_p.R147H|RALYL_uc003ycu.4_Missense_Mutation_p.R85H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	158							identical protein binding|nucleotide binding|RNA binding	p.G171*(1)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													A	85774590	G	A	85774590	3	1	38	1	0	0	0	0	1	0	0	0	13108	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	30235365	85774590	60589432	45	2314											
COL22A1	169044	broad.mit.edu	37	chr8	139856384	139856384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgatctccttctacacgaaCgctaggacagagcacatctg	11	8	9	13	3	3	1	0	0	3	1	4	4	3	2	1	1	3	2	1	1	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr8:139856384C>T	uc003yvd.3	-	3	1123	c.676G>A	c.(676-678)Gtt>Att	p.V226I		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	226					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCTACACGAACGCTAGGACAG	0.463										HNSCC(7;0.00092)			T	139856384	C	T	139856384	3	4	38	1	0	0	0	0	1	0	0	0	3712	536	19	1	4452	1	COL22A1	8	139856384	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	54081794	139856384	6507638	46	2315											
C9orf131	138724	broad.mit.edu	37	chr9	35043416	35043416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatactatggaagatctaGaagggatggcccccgatcct	11	8	10	12	1	1	2	0	0	1	2	2	5	2	4	4	3	1	0	4	3	5	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043416G>A	uc003zvw.3	+	1	819	c.790G>A	c.(790-792)Gaa>Aaa	p.E264K	C9orf131_uc003zvu.3_Missense_Mutation_p.E216K|C9orf131_uc003zvv.3_Missense_Mutation_p.E191K|C9orf131_uc003zvx.3_Missense_Mutation_p.E229K	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	264										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGAAGATCTAGAAGGGATGGC	0.547													A	35043416	G	A	35043416	3	1	38	1	0	0	0	0	1	0	0	0	2483	943	33	2	812	2	C9orf131	9	35043416	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		35043416	106170015	47	2316											
C9orf131	138724	broad.mit.edu	37	chr9	35043985	35043985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagcatctgagacaccatgGaagggcatgcaaagtagaga	15	5	12	9	0	1	2	0	1	1	2	1	5	1	3	2	2	2	4	2	2	3	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35043985G>C	uc003zvw.3	+	1	1388	c.1359G>C	c.(1357-1359)tgG>tgC	p.W453C	C9orf131_uc003zvu.3_Missense_Mutation_p.W405C|C9orf131_uc003zvv.3_Missense_Mutation_p.W380C|C9orf131_uc003zvx.3_Missense_Mutation_p.W418C	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	453										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGACACCATGGAAGGGCATGC	0.542													C	35043985	G	C	35043985	3	2	38	1	0	0	0	0	1	0	0	0	2483	1183	41	4	1381	4	C9orf131	9	35043985	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	569	35043985	106169446	48	2317											
RUSC2	9853	broad.mit.edu	37	chr9	35548294	35548294	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactggatgagggcacttgCtgtagccatagcctgccacc	8	8	11	14	0	0	1	0	1	0	0	0	2	0	2	5	2	4	3	5	2	2	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:35548294C>A	uc003zww.3	+	1	2031	c.1776C>A	c.(1774-1776)tgC>tgA	p.C592*	RUSC2_uc010mkq.3_Intron|RUSC2_uc003zwx.4_Nonsense_Mutation_p.C592*	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	592						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGGGCACTTGCTGTAGCCATA	0.637													A	35548294	C	A	35548294	4	1	38	1	0	0	0	0	0	1	0	0	13842	805	28	4	1778	4	RUSC2	9	35548294	Nonsense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	504309	35548294	105665137	49	2318											
EXOSC3	51010	broad.mit.edu	37	chr9	37785036	37785036	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgacagacgcaggttcGgccatcgcgggctccaccaa	8	4	13	16	6	0	1	0	0	0	1	3	2	1	1	4	3	0	3	4	3	1	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:37785036G>T	uc004aal.2	-	0	32	c.6C>A	c.(4-6)gcC>gcA	p.A2A	EXOSC3_uc010mly.1_Silent_p.A2A|EXOSC3_uc004aam.2_Silent_p.A2A	NM_016042	NP_057126	Q9NQT5	EXOS3_HUMAN	Homo sapiens exosome component 3 (EXOSC3), transcript variant 1, mRNA.	2					CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		ACGCAGGTTCGGCCATCGCGG	0.662													T	37785036	G	T	37785036	2	4	38	1	0	0	0	0	0	0	0	1	5357	1103	39	4		4	EXOSC3	9	37785036	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08	2236742	37785036	103428395	50	2319											
OR13F1	138805	broad.mit.edu	37	chr9	107266629	107266629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcaggtcatcatatttgCggtgtgcttgctgatgtacc	7	15	11	8	1	3	1	3	1	0	0	3	1	3	1	1	2	4	4	1	2	2	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr9:107266629C>T	uc011lvm.2	+	0	86	c.86C>T	c.(85-87)gCg>gTg	p.A29V		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A29A(1)		endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATCATATTTGCGGTGTGCTTG	0.418													T	107266629	C	T	107266629	3	4	38	1	0	0	0	0	1	0	0	0	11017	768	27	1	88	1	OR13F1	9	107266629	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	69481593	107266629	33946802	51	2320											
MUC5B	727897	broad.mit.edu	37	chr11	1267649	1267649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggtgcccaccggatccaCggccaccgcctcctccaccc	6	4	9	22	4	0	0	0	0	0	0	3	2	3	1	9	3	1	0	9	3	0	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:1267649C>T	uc001lta.3	+	30	9598	c.9539C>T	c.(9538-9540)aCg>aTg	p.T3180M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3180	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGGATCCACGGCCACCGCC	0.687													T	1267649	C	T	1267649	3	4	38	1	0	0	0	0	1	0	0	0	10055	536	19	1	9670	1	MUC5B	11	1267649	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		1267649	133738867	52	2321											
LRRC55	219527	broad.mit.edu	37	chr11	56949722	56949722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagcctggcccacaacCgcatcacagcagtgccgcct	9	5	8	19	2	2	0	2	0	0	0	2	0	2	0	6	1	4	2	6	1	1	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:56949722C>T	uc001njl.2	+	0	502	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	89						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GGCCCACAACCGCATCACAGC	0.597													T	56949722	C	T	56949722	3	4	38	1	0	0	0	0	1	0	0	0	9081	652	23	1	357	1	LRRC55	11	56949722	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	55682073	56949722	78056794	53	2322											
AHNAK	79026	broad.mit.edu	37	chr11	62301253	62301253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcggagaggctgccccCgagcccgagggcagtctgat	6	6	15	14	3	1	2	0	1	1	1	2	5	1	2	4	3	2	2	4	3	0	0	rs141489091	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:62301253C>T	uc001ntl.3	-	4	936	c.636G>A	c.(634-636)tcG>tcA	p.S212S	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	212					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGCTGCCCCCGAGCCCGAGG	0.562													T	62301253	C	T	62301253	2	4	38	1	0	0	0	0	0	0	0	1	414	639	23	1		1	AHNAK	11	62301253	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	5351531	62301253	72705263	54	2323											
SNX15	29907	broad.mit.edu	37	chr11	64800008	64800008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttccctgctttccccCgggcccaggtgtttggtgag	4	11	14	12	1	0	1	0	1	0	0	2	2	2	2	4	4	1	3	4	4	0	3	rs142024969	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:64800008C>T	uc001oci.4	+	5	895	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	SNX15_uc001ock.3_Missense_Mutation_p.R81W	NM_013306	NP_037438	Q9NRS6	SNX15_HUMAN	Homo sapiens sorting nexin 15 (SNX15), transcript variant A, mRNA.	81	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCTTTCCCCCGGGCCCAGGT	0.627													T	64800008	C	T	64800008	3	4	38	1	0	0	0	0	1	0	0	0	14980	643	23	1	251	1	SNX15	11	64800008	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	2498755	64800008	70206508	55	2324											
HSPB2	3316	broad.mit.edu	37	chr11	111784541	111784541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgacatttggacacagaggtCaatgaggtctacatctccct	11	10	9	11	1	3	2	1	1	2	1	4	4	3	3	1	3	1	0	1	3	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:111784541C>T	uc001pmg.2	+	1	565	c.471C>T	c.(469-471)gtC>gtT	p.V157V	CRYAB_uc001pmf.1_5'Flank|CRYAB_uc010rwp.1_5'Flank|HSPB2_uc009yyj.2_Non-coding_Transcript|C11orf52_uc001pmh.3_Intron	NM_001541	NP_001532	Q16082	HSPB2_HUMAN	Homo sapiens heat shock 27kDa protein 2 (HSPB2), mRNA.	157					response to heat|response to unfolded protein	cytosol|nucleus	enzyme activator activity|protein binding			large_intestine(2)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(61;3.75e-11)|all_epithelial(67;2.33e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		ACACAGAGGTCAATGAGGTCT	0.592													T	111784541	C	T	111784541	2	4	38	1	0	0	0	0	0	0	0	1	7477	813	29	2		2	HSPB2	11	111784541	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08	46984533	111784541	23221975	56	2325											
PDZD3	79849	broad.mit.edu	37	chr11	119059718	119059718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacaacaccaggtgaCtccaggaggctcagctgccc	9	4	10	18	0	1	1	1	1	0	0	2	2	2	2	5	3	3	2	5	3	1	0			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:119059718C>T	uc001pwb.3	+	7	2014	c.1490C>T	c.(1489-1491)aCt>aTt	p.T497I	PDZD3_uc001pvz.3_Missense_Mutation_p.T431I|PDZD3_uc010rzd.2_Missense_Mutation_p.T418I|PDZD3_uc001pvy.3_Missense_Mutation_p.T417I|PDZD3_uc001pwa.3_Missense_Mutation_p.T127I			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	497	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CACCAGGTGACTCCAGGAGGC	0.602													T	119059718	C	T	119059718	3	4	38	1	0	0	0	0	1	0	0	0	11778	565	20	2	1330	2	PDZD3	11	119059718	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	7275177	119059718	15946798	57	2326											
VSIG2	23584	broad.mit.edu	37	chr11	124620786	124620786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgacttagaaccagttGgatacagatggccattggtg	10	12	12	7	0	0	3	0	1	0	2	0	4	0	4	2	3	2	2	2	3	3	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr11:124620786G>A	uc001qas.3	-	2	327	c.251C>T	c.(250-252)cCa>cTa	p.P84L	VSIG2_uc001qat.3_Missense_Mutation_p.P84L	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	84	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGAACCAGTTGGATACAGATG	0.537													A	124620786	G	A	124620786	3	1	38	1	0	0	0	0	1	0	0	0	17326	1348	47	2	752	2	VSIG2	11	124620786	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	5561068	124620786	10385730	58	2327											
SLC6A13	6540	broad.mit.edu	37	chr12	333649	333649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcagcatcaccacagccCgcgggtaagcgatgaaagcc	12	3	13	13	3	1	1	1	1	0	0	1	2	1	1	3	2	4	3	3	2	2	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:333649C>T	uc001qic.2	-	9	1181	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	SLC6A13_uc009zdj.2_Missense_Mutation_p.R354Q|SLC6A13_uc010sdl.2_Missense_Mutation_p.R272Q	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	364					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			CACCACAGCCCGCGGGTAAGC	0.617													T	333649	C	T	333649	3	4	38	1	0	0	0	0	1	0	0	0	14770	652	23	1	741	1	SLC6A13	12	333649	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		333649	133518246	59	2328											
TMTC1	83857	broad.mit.edu	37	chr12	29786150	29786150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagatggtggctaagttcCgcatgtcccatatggtctct	9	12	11	9	1	1	1	0	0	1	1	4	2	3	1	2	3	0	3	2	3	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:29786150C>T	uc021qwi.1	-	5	1117	c.1058G>A	c.(1057-1059)cGg>cAg	p.R353Q	TMTC1_uc001riz.3_Missense_Mutation_p.R2Q|TMTC1_uc001rja.3_Missense_Mutation_p.R89Q|TMTC1_uc001rjb.3_Missense_Mutation_p.R245Q|TMTC1_uc001rjc.1_Missense_Mutation_p.R307Q	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	353						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GGCTAAGTTCCGCATGTCCCA	0.498													T	29786150	C	T	29786150	3	4	38	1	0	0	0	0	1	0	0	0	16360	652	23	1	1642	1	TMTC1	12	29786150	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	29452501	29786150	104065745	60	2329											
ARHGAP9	64333	broad.mit.edu	37	chr12	57872982	57872982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgggtcgagaggtggaggGagcttctaggcgtcttgcca	7	9	18	7	2	2	1	0	0	2	1	3	5	2	3	1	5	2	1	1	5	1	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:57872982G>A	uc001sod.3	-	4	614	c.421C>T	c.(421-423)Ccc>Tcc	p.P141S	ARHGAP9_uc001snz.3_5'Flank|ARHGAP9_uc001soa.3_5'Flank|ARHGAP9_uc001sob.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soc.3_Missense_Mutation_p.P70S|ARHGAP9_uc001soe.1_Missense_Mutation_p.P149S|ARHGAP9_uc010sro.1_Missense_Mutation_p.P70S	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	70					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GAGGTGGAGGGAGCTTCTAGG	0.567													A	57872982	G	A	57872982	3	1	38	1	0	0	0	0	1	0	0	0	892	1174	41	2	2055	2	ARHGAP9	12	57872982	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	28086832	57872982	75978913	61	2330											
NTN4	59277	broad.mit.edu	37	chr12	96180812	96180812	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaaatgtagcggagcAgttagtcgcaaagtacttat	13	9	11	8	2	0	0	0	0	0	0	1	1	0	1	1	2	3	5	1	2	6	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:96180812A>G	uc001tei.3	-	1	939	c.490T>C	c.(490-492)Tgc>Cgc	p.C164R	NTN4_uc009ztf.3_Missense_Mutation_p.C164R|NTN4_uc009ztg.3_Missense_Mutation_p.C127R	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	164	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTAGCGGAGCAGTTAGTCGCA	0.493													G	96180812	A	G	96180812	3	3	38	1	0	0	0	0	1	0	0	0	10778	188	7	3	1432	3	NTN4	12	96180812	Missense_Mutation	SNP	A	TCGA-06-0185-01A-01W-0254-08	38307830	96180812	37671083	62	2331											
UNC119B	84747	broad.mit.edu	37	chr12	121154526	121154526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcatttctccgcctcCggacagtcggggctacgtga	6	8	12	15	5	1	1	0	1	1	0	4	2	2	2	4	4	1	2	4	4	1	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr12:121154526C>T	uc001tyz.3	+	2	901	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W		NM_001080533	NP_001074002	A6NIH7	U119B_HUMAN	Homo sapiens unc-119 homolog B (C. elegans) (UNC119B), mRNA.	152										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCTCCGCCTCCGGACAGTCGG	0.532													T	121154526	C	T	121154526	3	4	38	1	0	0	0	0	1	0	0	0	17085	643	23	1	464	1	UNC119B	12	121154526	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	24973714	121154526	12697369	63	2332											
KBTBD6	89890	broad.mit.edu	37	chr13	41705381	41705381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccatgccctcacgacacaGcaagcgatctgcaagttgct	11	8	8	14	2	2	0	1	0	1	0	3	2	3	0	2	0	5	4	2	0	2	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr13:41705381G>A	uc001uxu.1	-	0	1556	c.1267C>T	c.(1267-1269)Ctg>Ttg	p.L423L	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	423							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		TCACGACACAGCAAGCGATCT	0.493													A	41705381	G	A	41705381	2	1	38	1	0	0	0	0	0	0	0	1	8055	962	34	2		2	KBTBD6	13	41705381	Silent	SNP	G	TCGA-06-0185-01A-01W-0254-08		41705381	73464497	64	2333											
C15orf52	388115	broad.mit.edu	37	chr15	40630791	40630791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggggcttcgggtcacaCgccctccaggtgacccctct	4	8	14	15	2	2	1	1	1	1	0	4	1	3	1	4	5	0	1	4	5	0	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:40630791C>T	uc001zlh.4	-	4	606	c.590G>A	c.(589-591)cGt>cAt	p.R197H	C15orf52_uc001zli.1_Missense_Mutation_p.R129H|C15orf52_uc010ucn.2_5'Flank	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	197										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCGGGTCACACGCCCTCCAGG	0.577											OREG0023060	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40630791	C	T	40630791	3	4	38	1	0	0	0	0	1	0	0	0	1813	536	19	1	1042	1	C15orf52	15	40630791	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		40630791	61900601	65	2334											
TP53BP1	7158	broad.mit.edu	37	chr15	43773221	43773221	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacattcccagaacaCtacacagcagaaggatataa	17	6	6	12	0	0	3	0	1	0	2	1	4	1	4	2	1	3	1	2	1	5	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:43773221C>G	uc001zrs.3	-	5	505	c.357_splice	c.e5-1	p.S119_splice	TP53BP1_uc010udp.2_Splice_Site_p.S119_splice|TP53BP1_uc001zrq.4_Splice_Site_p.S124_splice|TP53BP1_uc001zrr.4_Splice_Site_p.S124_splice|TP53BP1_uc010udq.1_Splice_Site_p.S124_splice	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	119					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		TCCCAGAACACTACACAGCAG	0.458								Other conserved DNA damage response genes					G	43773221	C	G	43773221	5	3	38	1	0	0	0	0	0	0	1	0	16484	579	20	4	5658	4	TP53BP1	15	43773221	Splice_Site	SNP	C	TCGA-06-0185-01A-01W-0254-08	3142430	43773221	58758171	66	2335											
GCOM1	145781	broad.mit.edu	37	chr15	58006757	58006757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagcaaagctcgcagcGcaaaaattagctgaaagact	17	6	9	9	2	0	2	0	1	0	1	1	2	0	2	0	0	5	6	0	0	6	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr15:58006757G>A	uc002aeo.3	+	12	1459	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	GCOM1_uc002aem.3_Silent_p.A511A|GCOM1_uc002aep.3_Non-coding_Transcript|GCOM1_uc010bfx.3_Non-coding_Transcript|GCOM1_uc002aeq.3_Non-coding_Transcript|GCOM1_uc002aen.3_Non-coding_Transcript|GCOM1_uc010bfy.3_Non-coding_Transcript|GCOM1_uc002aes.3_Silent_p.A98A|GCOM1_uc010ugu.2_Non-coding_Transcript|GCOM1_uc002aet.4_Silent_p.A329A|GCOM1_uc002aeu.4_Silent_p.A172A	NM_001018091	NP_001018101	P0CAP1	GCOM1_HUMAN	Homo sapiens GRINL1A complex locus 1 (GCOM1), transcript variant 2, mRNA.	51					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band		p.A329A(1)|p.A511A(1)		endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						AGCTCGCAGCGCAAAAATTAG	0.398													A	58006757	G	A	58006757	3	1	38	1	0	0	0	0	1	0	0	0	6359	1087	38	1	1688	1	GCOM1	15	58006757	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	14233536	58006757	44524635	67	2336											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140535	3140535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgggcgcaaggctctccCggcaccccaggactatctgc	7	6	12	16	2	2	0	0	0	2	0	3	2	2	1	3	4	1	3	3	4	2	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:3140535C>T	uc002ctv.1	-	4	823	c.735G>A	c.(733-735)ccG>ccA	p.P245P	ZSCAN10_uc002cty.1_5'UTR|ZSCAN10_uc002ctw.1_Silent_p.P163P|ZSCAN10_uc002ctx.1_Silent_p.P173P	NM_032805	NP_116194	Q96SZ4	ZSC10_HUMAN	Homo sapiens zinc finger and SCAN domain containing 10 (ZSCAN10), mRNA.	245					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AAGGCTCTCCCGGCACCCCAG	0.602													T	3140535	C	T	3140535	2	4	38	1	0	0	0	0	0	0	0	1	18326	639	23	1		1	ZSCAN10	16	3140535	Silent	SNP	C	TCGA-06-0185-01A-01W-0254-08		3140535	87214218	68	2337											
MYH11	4629	broad.mit.edu	37	chr16	15818586	15818586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtcttgcaggctgttcCgctcctcctccagctggcgc	2	11	12	16	2	1	0	0	0	1	0	5	0	5	0	4	3	2	6	4	3	0	2	rs150883363		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:15818586C>T	uc002ddx.3	-	30	4162	c.4055G>A	c.(4054-4056)cGg>cAg	p.R1352Q	MYH11_uc002ddv.3_Missense_Mutation_p.R1352Q|MYH11_uc002ddw.3_Missense_Mutation_p.R1345Q|MYH11_uc002ddy.3_Missense_Mutation_p.R1345Q|MYH11_uc010bvg.3_Missense_Mutation_p.R1177Q|NDE1_uc010uzy.2_3'UTR|NDE1_uc002dds.3_3'UTR|MYH11_uc010bvh.3_Missense_Mutation_p.R51Q|NDE1_uc002ddz.1_Non-coding_Transcript	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1345					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CAGGCTGTTCCGCTCCTCCTC	0.597			T	CBFB	AML								T	15818586	C	T	15818586	3	4	38	1	0	0	0	0	1	0	0	0	10107	652	23	1	1967	1	MYH11	16	15818586	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12678051	15818586	74536167	69	2338											
PRKCB	5579	broad.mit.edu	37	chr16	24231309	24231309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagagacacctccaacttcGacaaagagttcaccagacag	16	5	8	12	1	1	4	1	0	0	4	3	6	2	4	3	0	1	1	3	0	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:24231309G>A	uc002dmd.3	+	16	2088	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	PRKCB_uc002dme.3_3'UTR	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	631	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTCCAACTTCGACAAAGAGTT	0.433													A	24231309	G	A	24231309	3	1	38	1	0	0	0	0	1	0	0	0	12594	1058	37	1	2120	1	PRKCB	16	24231309	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	8412723	24231309	66123444	70	2339											
CHD9	80205	broad.mit.edu	37	chr16	53337775	53337775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacgcttgaagctttgccatCcaaatccagatttaccagtc	12	11	6	12	1	0	2	0	1	0	1	3	2	2	2	4	0	4	2	4	0	4	4			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr16:53337775C>T	uc002ehb.3	+	29	6021	c.5857C>T	c.(5857-5859)Cca>Tca	p.P1953S	CHD9_uc002egy.3_Missense_Mutation_p.P1953S|CHD9_uc002ehc.3_Missense_Mutation_p.P1953S|CHD9_uc002ehf.3_Missense_Mutation_p.P1067S|CHD9_uc002ehg.2_Missense_Mutation_p.P1067S|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1953					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCTTTGCCATCCAAATCCAGA	0.478													T	53337775	C	T	53337775	3	4	38	1	0	0	0	0	1	0	0	0	3362	855	30	2	5975	2	CHD9	16	53337775	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	29106466	53337775	37016978	71	2340											
ASGR2	433	broad.mit.edu	37	chr17	7005462	7005462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttccaagagccatcactGtccgtgagacctatccaggt	10	10	8	13	1	1	2	1	1	0	2	4	3	4	2	5	1	1	0	5	1	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:7005462G>T	uc002gep.3	-	7	984	c.717C>A	c.(715-717)gaC>gaA	p.D239E	ASGR2_uc002gen.1_Missense_Mutation_p.D220E|ASGR2_uc002geo.2_Missense_Mutation_p.D234E|ASGR2_uc002geq.3_Missense_Mutation_p.D215E|ASGR2_uc002ger.3_Missense_Mutation_p.D239E	NM_001181	NP_550434	P07307	ASGR2_HUMAN	Homo sapiens asialoglycoprotein receptor 2 (ASGR2), transcript variant 1, mRNA.	239	C-type lectin.				cell surface receptor linked signaling pathway|endocytosis	focal adhesion|integral to membrane|nucleolus	asialoglycoprotein receptor activity|protein binding|sugar binding	p.T238>?(1)|p.T238T(1)|p.T238A(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|skin(3)|stomach(4)	18					Antihemophilic Factor(DB00025)	AGCCATCACTGTCCGTGAGAC	0.458													T	7005462	G	T	7005462	3	4	38	1	0	0	0	0	1	0	0	0	1045	1368	48	4	226	4	ASGR2	17	7005462	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		7005462	74189748	72	2341											
KIF19	124602	broad.mit.edu	37	chr17	72346919	72346919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagtgctacgctaaggacGacagcgagaaggactcagac	14	4	14	9	3	1	2	1	0	0	2	1	7	1	5	0	3	3	2	0	3	3	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr17:72346919G>A	uc002jkm.4	+	11	1600	c.1462G>A	c.(1462-1464)Gac>Aac	p.D488N	KIF19_uc002jkj.2_Missense_Mutation_p.D488N|KIF19_uc002jkk.2_Missense_Mutation_p.D446N|KIF19_uc002jkl.2_Missense_Mutation_p.D446N	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	488					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CGCTAAGGACGACAGCGAGAA	0.637													A	72346919	G	A	72346919	3	1	38	1	0	0	0	0	1	0	0	0	8340	1058	37	1	1508	1	KIF19	17	72346919	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	65341457	72346919	8848291	73	2342											
DSG3	1830	broad.mit.edu	37	chr18	29056162	29056162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaacctagctggcccaaCgcagctacgagggtcacata	11	6	11	13	2	1	0	1	0	0	0	1	1	1	0	2	3	5	4	2	3	5	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:29056162C>T	uc002kws.3	+	15	3048	c.2939C>T	c.(2938-2940)aCg>aTg	p.T980M	DSG3_uc002kwt.3_Missense_Mutation_p.T262M	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	980					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GCTGGCCCAACGCAGCTACGA	0.488													T	29056162	C	T	29056162	3	4	38	1	0	0	0	0	1	0	0	0	4817	536	19	1	3001	1	DSG3	18	29056162	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		29056162	49021086	74	2343											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567452	45567452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggggaagggaatgccAatgagctcatcaatgtcatt	11	11	13	6	0	3	1	3	1	0	0	3	3	3	3	1	4	2	2	1	4	4	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr18:45567452A>G	uc010dnv.3	-	2	529	c.93T>C	c.(91-93)atT>atC	p.I31I	ZBTB7C_uc002ldb.3_Silent_p.I9I|ZBTB7C_uc010dnu.3_Silent_p.I18I|ZBTB7C_uc010dnw.3_Silent_p.I9I|ZBTB7C_uc010dnx.1_Silent_p.I9I|ZBTB7C_uc010dny.1_Silent_p.I9I|ZBTB7C_uc010dnz.1_Silent_p.I31I|ZBTB7C_uc010doi.1_Silent_p.I9I|ZBTB7C_uc010doj.1_Silent_p.I18I|ZBTB7C_uc010dok.1_Silent_p.I58I|ZBTB7C_uc010dol.1_Silent_p.I18I|ZBTB7C_uc010doa.1_Silent_p.I31I|ZBTB7C_uc010dob.1_Silent_p.I9I|ZBTB7C_uc010doc.1_Silent_p.I18I|ZBTB7C_uc010dod.1_Silent_p.I31I|ZBTB7C_uc010doe.1_Silent_p.I9I|ZBTB7C_uc010dof.1_Silent_p.I9I|ZBTB7C_uc010dog.1_Silent_p.I9I|ZBTB7C_uc010doh.1_Silent_p.I18I|ZBTB7C_uc010dom.1_Silent_p.I18I|ZBTB7C_uc010don.1_Silent_p.I17I|ZBTB7C_uc010dop.1_Silent_p.I9I|ZBTB7C_uc010doq.1_Silent_p.I18I|ZBTB7C_uc010dor.1_Silent_p.I31I|ZBTB7C_uc010dos.1_Silent_p.I9I|ZBTB7C_uc010dot.1_Silent_p.I9I|ZBTB7C_uc010doo.1_Silent_p.I9I|ZBTB7C_uc010dou.1_Silent_p.I18I	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	9						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGGAATGCCAATGAGCTCAT	0.582													G	45567452	A	G	45567452	2	3	38	1	0	0	0	0	0	0	0	1	17656	126	5	3		3	ZBTB7C	18	45567452	Silent	SNP	A	TCGA-06-0185-01A-01W-0254-08	16511290	45567452	32509796	75	2344											
CHAF1A	10036	broad.mit.edu	37	chr19	4409752	4409752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccacctccacgcccctccGcagagtgagtatctcccatg	7	7	7	20	2	1	2	0	1	1	1	4	2	3	2	8	0	0	2	8	0	1	1	rs112018734		TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:4409752G>A	uc002mal.3	+	2	1056	c.956G>A	c.(955-957)cGc>cAc	p.R319H		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	319					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		ACGCCCCTCCGCAGAGTGAGT	0.627								Chromatin Structure					A	4409752	G	A	4409752	3	1	38	1	0	0	0	0	1	0	0	0	3341	1087	38	1	966	1	CHAF1A	19	4409752	Missense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08		4409752	54719231	76	2345											
PAPL	390928	broad.mit.edu	37	chr19	39589268	39589268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatacaccgagtcacgCttcgcaagctgctgccaggg	9	8	10	14	3	2	0	1	0	1	0	3	1	2	0	2	1	5	4	2	1	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:39589268C>T	uc002oki.3	+	2	566	c.292C>T	c.(292-294)Ctt>Ttt	p.L98F	PAPL_uc010egl.3_Missense_Mutation_p.L98F	NM_001004318	NP_001004318	Q6ZNF0	PAPL_HUMAN	Homo sapiens iron/zinc purple acid phosphatase-like protein (PAPL), mRNA.	98						extracellular region	acid phosphatase activity|metal ion binding										CCGAGTCACGCTTCGCAAGCT	0.647													T	39589268	C	T	39589268	3	4	38	1	0	0	0	0	1	0	0	0	11503	797	28	2	298	2	PAPL	19	39589268	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	35179516	39589268	19539715	77	2346											
PSG9	5678	broad.mit.edu	37	chr19	43766068	43766068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcactgggttccgtattTcacattcatagggtcctgca	8	13	8	12	1	3	0	3	0	0	0	5	0	5	0	2	2	1	3	2	2	2	5			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:43766068T>C	uc002owd.4	-	2	752	c.653A>G	c.(652-654)gAa>gGa	p.E218G	PSG9_uc002owe.4_Missense_Mutation_p.E218G|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Missense_Mutation_p.E218G	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	218	Ig-like C2-type 1.				female pregnancy	extracellular region		p.E218K(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GTTCCGTATTTCACATTCATA	0.512													C	43766068	T	C	43766068	3	2	38	1	0	0	0	0	1	0	0	0	12747	1783	62	3	643	3	PSG9	19	43766068	Missense_Mutation	SNP	T	TCGA-06-0185-01A-01W-0254-08	4176800	43766068	15362915	78	2347											
NLRP5	126206	broad.mit.edu	37	chr19	56539799	56539799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcactgtccgtatttgCggaaaattcgggtggatgtc	8	12	12	9	3	0	0	0	0	0	0	4	2	2	2	2	3	2	2	2	3	3	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr19:56539799C>T	uc002qmj.3	+	6	2200	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W	NLRP5_uc002qmi.3_Missense_Mutation_p.R715W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	734						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCGTATTTGCGGAAAATTCG	0.502													T	56539799	C	T	56539799	3	4	38	1	0	0	0	0	1	0	0	0	10556	759	27	1	2226	1	NLRP5	19	56539799	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	12773731	56539799	2589184	79	2348											
LBP	3929	broad.mit.edu	37	chr20	36989406	36989406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccgatctacagccttatCtccaaactctgccaggtagg	9	10	7	15	1	3	0	0	0	3	0	5	1	4	0	5	2	4	1	5	2	4	3			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:36989406C>T	uc002xic.1	+	5	672	c.637C>T	c.(637-639)Ctc>Ttc	p.L213F		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	213					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	p.L213I(2)		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)				ACAGCCTTATCTCCAAACTCT	0.418													T	36989406	C	T	36989406	3	4	38	1	0	0	0	0	1	0	0	0	8710	913	32	2	659	2	LBP	20	36989406	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		36989406	26036114	80	2349											
SEMG2	6406	broad.mit.edu	37	chr20	43836503	43836503	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggtagaaaacaaggcGgatcccaaagcagttatgtt	18	7	10	6	1	0	1	0	0	0	1	1	2	1	2	1	3	2	4	1	3	8	3	rs113377758	byFrequency	TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:43836503G>T	uc010ggz.3	+						SEMG2_uc002xni.2_Nonsense_Mutation_p.G189*|SEMG2_uc002xnj.2_Nonsense_Mutation_p.G189*	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				AAAACAAGGCGGATCCCAAAG	0.388													T	43836503	G	T	43836503	4	4	38	1	0	0	0	0	0	1	0	0	14138	1117	39	4		4	SEMG2	20	43836503	Nonsense_Mutation	SNP	G	TCGA-06-0185-01A-01W-0254-08	6847097	43836503	19189017	81	2350											
ZNF831	128611	broad.mit.edu	37	chr20	57769723	57769723	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcctggtagcagcctcCgagatgagggtcccaatggc	8	9	12	12	1	0	2	0	1	0	1	3	3	3	2	4	3	2	2	4	3	2	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr20:57769723C>T	uc002yan.3	+	0	3649	c.3649C>T	c.(3649-3651)Cga>Tga	p.R1217*		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1217						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TAGCAGCCTCCGAGATGAGGG	0.627													T	57769723	C	T	57769723	4	4	38	1	0	0	0	0	0	1	0	0	18284	644	23	1	3651	1	ZNF831	20	57769723	Nonsense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	13933220	57769723	5255797	82	2351											
PKNOX1	5316	broad.mit.edu	37	chr21	44437070	44437070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggaattgtggtgcCggcgtccgcgctgcagcagg	5	7	16	13	4	1	0	1	0	0	0	2	1	2	1	3	4	3	3	3	4	1	1			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:44437070C>T	uc002zcq.1	+	5	763	c.575C>T	c.(574-576)cCg>cTg	p.P192L	PKNOX1_uc002zcp.1_Missense_Mutation_p.P192L|PKNOX1_uc011aex.1_Missense_Mutation_p.P75L|PKNOX1_uc002zcr.3_Missense_Mutation_p.P192L	NM_004571	NP_004562	P55347	PKNX1_HUMAN	Homo sapiens PBX/knotted 1 homeobox 1 (PKNOX1), mRNA.	192							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ATTGTGGTGCCGGCGTCCGCG	0.502													T	44437070	C	T	44437070	3	4	38	1	0	0	0	0	1	0	0	0	12059	652	23	1	593	1	PKNOX1	21	44437070	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08		44437070	3692825	83	2352											
C21orf56	84221	broad.mit.edu	37	chr21	47588353	47588353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgagtcttgcaaggggCtcaggagcggggacagcttc	8	7	16	10	1	2	1	1	1	1	0	3	3	2	3	1	5	3	3	1	5	1	2			TCGA-06-0185-01A-01W-0254-08	TCGA-06-0185-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc62d57d-b536-41ab-a344-e765fd3f7439	7ffaca28-e3d7-4ef6-953f-4c7cb1e4d8b5	g.chr21:47588353C>T	uc011afu.2	-	2	1475	c.413G>A	c.(412-414)aGc>aAc	p.S138N	C21orf56_uc002zii.3_5'UTR	NM_001142854	NP_115637	Q9H0A9	CU056_HUMAN	Homo sapiens chromosome 21 open reading frame 56 (C21orf56), transcript variant 1, mRNA.	138							protein binding			kidney(1)|skin(1)	2	Breast(49;0.214)			Colorectal(79;0.241)		TTGCAAGGGGCTCAGGAGCGG	0.652													T	47588353	C	T	47588353	3	4	38	1	0	0	0	0	1	0	0	0	2148	797	28	2	621	2	C21orf56	21	47588353	Missense_Mutation	SNP	C	TCGA-06-0185-01A-01W-0254-08	3151283	47588353	541542	84	2353											
SLC45A1	50651	broad.mit.edu	37	chr1	8390537	8390537	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggcgacagcctcccgtcGcacacggccaccaacttctc	7	6	8	20	4	1	0	0	0	1	0	4	1	2	0	5	2	2	1	5	2	1	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:8390537G>A	uc001apb.3	+	3	984	c.984G>A	c.(982-984)tcG>tcA	p.S328S	SLC45A1_uc001apc.3_Silent_p.S26S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	328					carbohydrate transport	integral to membrane	symporter activity	p.P327P(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTCCCGTCGCACACGGCCA	0.697													A	8390537	G	A	8390537	2	1	39	1	0	0	0	0	0	0	0	1	14734	1074	38	1		1	SLC45A1	1	8390537	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08		8390537	240860084	1	2354											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809465	18809465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgggccggccccaccgggGgcagcaaggaccgcacggcc	6	1	18	16	4	0	0	0	0	0	0	0	1	0	1	6	7	1	3	6	7	1	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:18809465G>A	uc001bax.3	+	0	2042	c.1990G>A	c.(1990-1992)Ggc>Agc	p.G664S	KLHDC7A_uc009vpg.3_Missense_Mutation_p.G446S	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	664						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACCGGGGGCAGCAAGGA	0.682													A	18809465	G	A	18809465	3	1	39	1	0	0	0	0	1	0	0	0	8418	1232	43	2	1992	2	KLHDC7A	1	18809465	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	10418928	18809465	230441156	2	2355											
FAM54B	56181	broad.mit.edu	37	chr1	26156090	26156090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcctcattccactctaCaacttcctttgtcattagtg	8	16	5	12	0	3	0	2	0	1	0	6	1	6	1	3	1	2	0	3	1	3	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:26156090C>T	uc010oet.2	+	5	775	c.641C>T	c.(640-642)aCa>aTa	p.T214I	FAM54B_uc001bkq.4_Missense_Mutation_p.T181I|FAM54B_uc001bkr.4_Intron|FAM54B_uc009vrz.3_Missense_Mutation_p.T166I|FAM54B_uc001bks.4_Missense_Mutation_p.T181I|FAM54B_uc001bkt.4_Missense_Mutation_p.T181I|FAM54B_uc001bku.4_Intron|FAM54B_uc001bkv.4_Missense_Mutation_p.T84I			Q9H019	FA54B_HUMAN	Homo sapiens family with sequence similarity 54, member B (FAM54B), transcript variant 2, mRNA.	181										endometrium(2)|kidney(2)|large_intestine(2)|pancreas(1)|prostate(1)	8		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.96e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.00095)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0649)		TTCCACTCTACAACTTCCTTT	0.478													T	26156090	C	T	26156090	3	4	39	1	0	0	0	0	1	0	0	0	5634	478	17	2	560	2	FAM54B	1	26156090	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	7346625	26156090	223094531	3	2356											
CYB5RL	606495	broad.mit.edu	37	chr1	54653374	54653374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttggcagggctgatgggcGtataggctctctgaatttct	6	13	14	8	2	2	2	0	2	2	0	3	2	2	2	0	4	0	5	0	4	3	4			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:54653374G>A	uc009vzo.3	-	4	706	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CYB5RL_uc001cww.3_5'UTR|CYB5RL_uc001cwy.4_5'UTR|CYB5RL_uc001cwx.4_Non-coding_Transcript	NM_001031672	NP_001026842	Q6IPT4	NB5R5_HUMAN	Homo sapiens cytochrome b5 reductase-like (CYB5RL), mRNA.	129	FAD-binding FR-type.						cytochrome-b5 reductase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|urinary_tract(1)	8						GCTGATGGGCGTATAGGCTCT	0.483													A	54653374	G	A	54653374	3	1	39	1	0	0	0	0	1	0	0	0	4163	1145	40	1	577	1	CYB5RL	1	54653374	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	28497284	54653374	194597247	4	2357											
RYR2	6262	broad.mit.edu	37	chr1	237608770	237608770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccagcatgaagaatcaCgcacagcccgagttatccgg	12	6	10	13	3	1	2	1	1	0	1	3	4	3	2	3	1	2	3	3	1	3	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr1:237608770C>T	uc001hyl.1	+	13	1360	c.1240C>T	c.(1240-1242)Cgc>Tgc	p.R414C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	414			R -> L (in CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGAAGAATCACGCACAGCCCG	0.393													T	237608770	C	T	237608770	3	4	39	1	0	0	0	0	1	0	0	0	13860	536	19	1	1294	1	RYR2	1	237608770	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	182955396	237608770	11641851	5	2358											
SLC5A7	60482	broad.mit.edu	37	chr2	108626770	108626770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccatggccttgctgaCgaaaactgtgtatgggctct	10	10	11	10	1	1	1	0	1	1	0	1	2	1	1	2	2	4	3	2	2	4	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:108626770C>T	uc002tdv.3	+	8	1472	c.1196C>T	c.(1195-1197)aCg>aTg	p.T399M	SLC5A7_uc010ywm.2_Missense_Mutation_p.T152M|SLC5A7_uc010fjj.3_Missense_Mutation_p.T399M|SLC5A7_uc010ywn.2_Missense_Mutation_p.T286M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	399					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GCCTTGCTGACGAAAACTGTG	0.463													T	108626770	C	T	108626770	3	4	39	1	0	0	0	0	1	0	0	0	14764	536	19	1	1226	1	SLC5A7	2	108626770	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		108626770	134572603	6	2359											
LRP2	4036	broad.mit.edu	37	chr2	170007505	170007505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtttagccacctcaatgcGtttattcttgacatctgacc	10	14	6	11	1	3	2	1	2	2	0	3	2	3	2	3	0	2	2	3	0	4	6			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:170007505G>A	uc002ues.3	-	67	12706	c.12493C>T	c.(12493-12495)Cgc>Tgc	p.R4165C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4165					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R4165C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACCTCAATGCGTTTATTCTTG	0.428													A	170007505	G	A	170007505	3	1	39	1	0	0	0	0	1	0	0	0	9026	1145	40	1	1522	1	LRP2	2	170007505	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	61380735	170007505	73191868	7	2360											
TTN	7273	broad.mit.edu	37	chr2	179498764	179498764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagttgctgtttcaccttcTtttactgtttgatcttcaag	8	19	6	8	0	4	1	2	1	2	0	4	1	4	1	1	0	2	4	1	0	3	7			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:179498764T>C	uc021vsy.1	-	179	34983	c.34758A>G	c.(34756-34758)aaA>aaG	p.K11586K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5281K|TTN_uc021vta.1_Silent_p.K5214K|TTN_uc021vtb.1_Silent_p.K5089K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12513	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACCTTCTTTTACTGTTT	0.358													C	179498764	T	C	179498764	2	2	39	1	0	0	0	0	0	0	0	1	16837	1606	56	3		3	TTN	2	179498764	Silent	SNP	T	TCGA-06-0188-01A-01W-0254-08	9491259	179498764	63700609	8	2361											
DNAJC10	54431	broad.mit.edu	37	chr2	183584858	183584858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgaggataatcaaggtgGccagtatgaaagctggaact	14	9	12	6	0	1	2	1	2	0	0	1	4	1	4	1	4	2	2	1	4	5	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:183584858G>A	uc002uow.1	+	3	744	c.329G>A	c.(328-330)gGc>gAc	p.G110D	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Missense_Mutation_p.G110D|DNAJC10_uc010fro.1_Non-coding_Transcript	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	110					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATCAAGGTGGCCAGTATGAA	0.308													A	183584858	G	A	183584858	3	1	39	1	0	0	0	0	1	0	0	0	4668	1203	42	2	335	2	DNAJC10	2	183584858	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	4086094	183584858	59614515	9	2362											
TNS1	7145	broad.mit.edu	37	chr2	218712554	218712554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggttcccaacgaatGcccactggggatatagccag	10	7	12	12	1	1	0	1	0	0	0	2	2	2	1	3	4	3	1	3	4	4	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:218712554G>A	uc002vgt.2	-	16	2709	c.2311C>T	c.(2311-2313)Cat>Tat	p.H771Y	TNS1_uc002vgr.2_Missense_Mutation_p.H771Y|TNS1_uc002vgs.2_Missense_Mutation_p.H771Y|TNS1_uc010zjv.1_Missense_Mutation_p.H771Y|TNS1_uc010fvj.1_Missense_Mutation_p.H839Y|TNS1_uc010fvk.1_Missense_Mutation_p.H896Y|TNS1_uc010fvi.1_Missense_Mutation_p.H458Y	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	771						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CCCAACGAATGCCCACTGGGG	0.607													A	218712554	G	A	218712554	3	1	39	1	0	0	0	0	1	0	0	0	16443	1319	46	2	2964	2	TNS1	2	218712554	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	35127696	218712554	24486819	10	2363											
ABCB6	10058	broad.mit.edu	37	chr2	220080773	220080773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgatccgcagcacctccCctgtgcggcgccccaggtgc	4	5	12	20	5	0	0	0	0	0	0	2	1	2	0	7	2	3	2	7	2	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr2:220080773C>T	uc002vkc.2	-	4	2879	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	ABCB6_uc010fwe.2_Missense_Mutation_p.G321E|ABCB6_uc010zku.1_Intron	NM_005689	NP_005680	Q9NP58	ABCB6_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 6 (ABCB6), nuclear gene encoding mitochondrial protein, mRNA.	367	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCTCCCCTGTGCGGCG	0.672													T	220080773	C	T	220080773	3	4	39	1	0	0	0	0	1	0	0	0	45	623	22	2	1488	2	ABCB6	2	220080773	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	1368219	220080773	23118600	11	2364											
KDR	3791	broad.mit.edu	37	chr4	55976857	55976857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtaaccaaggtacttcGcagggattctgacacgctcc	9	9	12	11	2	1	1	0	1	1	0	3	2	2	2	2	3	2	4	2	3	3	4	rs151317075	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:55976857G>A	uc003has.3	-	7	1357	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	KDR_uc003hat.1_Missense_Mutation_p.A352V|KDR_uc011bzx.2_Missense_Mutation_p.A352V	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	352	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.A352V(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AAGGTACTTCGCAGGGATTCT	0.413			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55976857	G	A	55976857	3	1	39	1	0	0	0	0	1	0	0	0	8197	1087	38	1	3107	1	KDR	4	55976857	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08		55976857	135177419	12	2365											
TMPRSS11A	339967	broad.mit.edu	37	chr4	68784698	68784698	+	Frame_Shift_Del	DEL	G	G	-																															ctgagatacccaccaccataGtaaagtgctccaaatcctgt																										TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:68784698delG	uc003hdr.1	-	7	1075	c.954delC	c.(952-954)tacfs	p.Y318fs	LOC550112_uc003hdl.4_Intron|TMPRSS11A_uc003hds.1_Frame_Shift_Del_p.Y315fs	NM_182606	NP_872412	Q6ZMR5	TM11A_HUMAN	Homo sapiens transmembrane protease, serine 11A (TMPRSS11A), transcript variant 1, mRNA.	318	Peptidase S1.				cell cycle|proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	29						CACCACCATAGTAAAGTGCTC	0.453													-	68784698	G	-	68784698	7	5	39	1	0	1	0	1	0	0	0	0	16339	1024	36	0	323	0	TMPRSS11A	4	68784698	Frame_Shift_Del	DEL	G	TCGA-06-0188-01A-01W-0254-08	12807841	68784698	122369578	13	2366											
UGT2B11	10720	broad.mit.edu	37	chr4	70079996	70079996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaaaacagcatctgcaaAaacgatgtcaaatcttgact	17	8	8	8	1	3	1	1	1	2	0	3	3	3	2	0	1	4	2	0	1	5	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70079996A>G	uc003heh.3	-	0	454	c.445T>C	c.(445-447)Ttt>Ctt	p.F149L	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	149					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GCATCTGCAAAAACGATGTCA	0.383													G	70079996	A	G	70079996	3	3	39	1	0	0	0	0	1	0	0	0	17059	14	1	3	1168	3	UGT2B11	4	70079996	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	1295298	70079996	121074280	14	2367											
UGT2B28	54490	broad.mit.edu	37	chr4	70156481	70156481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggacttccacacaatgtCgagtacagacctgctgaatg	12	9	9	11	1	0	2	0	1	0	1	2	4	1	3	2	1	2	2	2	1	3	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:70156481C>T	uc003hej.3	+	4	1264	c.1262C>T	c.(1261-1263)tCg>tTg	p.S421L	UGT2B28_uc010ihr.3_Intron	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	421					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.S421L(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CACACAATGTCGAGTACAGAC	0.423													T	70156481	C	T	70156481	3	4	39	1	0	0	0	0	1	0	0	0	17062	893	31	1	1280	1	UGT2B28	4	70156481	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	76485	70156481	120997795	15	2368											
TACR3	6870	broad.mit.edu	37	chr4	104511030	104511030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggactccattctggtcaCggtgtacatactgctttgcc	7	13	9	12	1	2	0	1	0	1	0	3	1	3	1	2	3	4	2	2	3	2	4			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr4:104511030C>T	uc003hxe.1	-	4	1348	c.1207G>A	c.(1207-1209)Gtg>Atg	p.V403M		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	403						integral to plasma membrane	tachykinin receptor activity	p.V403M(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCTGGTCACGGTGTACATA	0.498													T	104511030	C	T	104511030	3	4	39	1	0	0	0	0	1	0	0	0	15604	536	19	1	194	1	TACR3	4	104511030	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	34354549	104511030	86643246	16	2369											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037232	129037232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccgcctctgcccagCgctgtgagggccaggactgc	6	5	13	17	2	1	1	0	1	1	0	1	2	1	2	5	2	4	1	5	2	1	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:129037232C>T	uc003kvb.1	+	19	3088	c.3088C>T	c.(3088-3090)Cgc>Tgc	p.R1030C	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	1030	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R1030H(1)		NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTCTGCCCAGCGCTGTGAGGG	0.592													T	129037232	C	T	129037232	3	4	39	1	0	0	0	0	1	0	0	0	264	768	27	1	3166	1	ADAMTS19	5	129037232	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		129037232	51878028	17	2370											
SLC22A5	6584	broad.mit.edu	37	chr5	131728210	131728210	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctacgtgtacacagcCgagctgtatcccacagtggt	9	10	11	11	2	1	0	0	0	1	0	2	1	2	0	2	2	4	3	2	2	3	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr5:131728210C>T	uc003kwx.4	+	8	1689	c.1425C>T	c.(1423-1425)gcC>gcT	p.A475A	SLC22A5_uc003kww.4_Silent_p.A451A|SLC22A5_uc010jdr.1_Silent_p.A71A	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	451					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TGTACACAGCCGAGCTGTATC	0.532													T	131728210	C	T	131728210	2	4	39	1	0	0	0	0	0	0	0	1	14551	639	23	1		1	SLC22A5	5	131728210	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	2690978	131728210	49187050	18	2371											
ZNF76	7629	broad.mit.edu	37	chr6	35255444	35255444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctatgaccccagcacccTggaagccgtccaactggaag	11	5	11	14	1	0	1	0	1	0	0	1	3	1	3	5	3	3	2	5	3	4	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:35255444T>C	uc003oki.1	+	4	459	c.254T>C	c.(253-255)cTg>cCg	p.L85P	ZNF76_uc011dsy.1_Missense_Mutation_p.L85P|ZNF76_uc011dsz.1_Missense_Mutation_p.L85P|ZNF76_uc003okj.1_Missense_Mutation_p.L85P|ZNF76_uc011dsx.2_Missense_Mutation_p.L85P	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	85	3 X 12 AA approximate repeats.				regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CCCAGCACCCTGGAAGCCGTC	0.577													C	35255444	T	C	35255444	3	2	39	1	0	0	0	0	1	0	0	0	18235	1580	55	3	268	3	ZNF76	6	35255444	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		35255444	135859623	19	2372											
DAAM2	23500	broad.mit.edu	37	chr6	39864627	39864627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggtccgcagcaagcGtcttagacagatgctagagg	10	7	15	9	2	1	3	0	0	1	3	2	4	2	4	1	3	4	4	1	3	3	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:39864627G>A	uc003oow.3	+	19	2520	c.2381G>A	c.(2380-2382)cGt>cAt	p.R794H	DAAM2_uc003oox.3_Missense_Mutation_p.R794H	NM_001201427	NP_001188356	Q86T65	DAAM2_HUMAN	Homo sapiens dishevelled associated activator of morphogenesis 2 (DAAM2), transcript variant 1, mRNA.	794	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CGCAGCAAGCGTCTTAGACAG	0.612													A	39864627	G	A	39864627	3	1	39	1	0	0	0	0	1	0	0	0	4250	1145	40	1	2455	1	DAAM2	6	39864627	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	4609183	39864627	131250440	20	2373											
PRPH2	5961	broad.mit.edu	37	chr6	42672106	42672106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcccagggcctacctcGaagagccaaatgaggagcgt	10	5	14	12	2	0	2	0	1	0	1	1	4	0	3	4	3	3	1	4	3	3	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:42672106G>A	uc003osk.3	-	1	1111	c.825C>T	c.(823-825)ttC>ttT	p.F275F		NM_000322	NP_000313	P23942	PRPH2_HUMAN	Homo sapiens peripherin 2 (retinal degeneration, slow) (PRPH2), mRNA.	275					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GGCCTACCTCGAAGAGCCAAA	0.627													A	42672106	G	A	42672106	2	1	39	1	0	0	0	0	0	0	0	1	12663	1049	37	1		1	PRPH2	6	42672106	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	2807479	42672106	128442961	21	2374											
KHDRBS2	202559	broad.mit.edu	37	chr6	62995779	62995779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttctgccaaaaggcgCgacgcatgcacaaaagatgg	13	6	10	12	3	1	1	0	0	1	1	1	2	1	1	2	2	3	2	2	2	5	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:62995779C>T	uc003peg.2	-	0	322	c.75G>A	c.(73-75)tcG>tcA	p.S25S		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.A24V(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCAAAAGGCGCGACGCATGCA	0.567													T	62995779	C	T	62995779	2	4	39	1	0	0	0	0	0	0	0	1	8205	755	27	1		1	KHDRBS2	6	62995779	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	20323673	62995779	108119288	22	2375											
SASH1	23328	broad.mit.edu	37	chr6	148840740	148840740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgaacggtccgccctctActctggcgtgcacaagaagc	9	7	12	13	3	2	2	0	1	2	1	3	3	3	3	2	3	4	1	2	3	4	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr6:148840740A>G	uc003qme.1	+	9	1395	c.920A>G	c.(919-921)tAc>tGc	p.Y307C	SASH1_uc011eeb.1_Missense_Mutation_p.Y68C	NM_015278	NP_056093	O94885	SASH1_HUMAN	Homo sapiens SAM and SH3 domain containing 1 (SASH1), mRNA.	307							protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCGCCCTCTACTCTGGCGTG	0.552													G	148840740	A	G	148840740	3	3	39	1	0	0	0	0	1	0	0	0	13940	391	14	3	958	3	SASH1	6	148840740	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	85844961	148840740	22274327	23	2376											
PKD1L1	168507	broad.mit.edu	37	chr7	47835588	47835588	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatctcacagcttacgTgattctcaaccatctcagcc	11	10	5	15	1	3	2	3	1	3	1	6	2	3	2	3	0	4	1	3	0	3	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:47835588T>C	uc003tny.2	-	55	8389	c.8355_splice	c.e55+1	p.H2785_splice	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2785					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCTTACGTGATTCTCAAC	0.413													C	47835588	T	C	47835588	3	2	39	1	0	0	0	0	1	0	0	0	12041	1710	59	3	207	3	PKD1L1	7	47835588	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		47835588	111303075	24	2377											
MLL3	58508	broad.mit.edu	37	chr7	151960173	151960173	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatgataccctttgtcAcacgtatcacacactagcat	14	11	5	11	1	2	1	2	1	0	0	2	1	2	1	1	0	2	3	1	0	5	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr7:151960173A>G	uc003wla.3	-	8	1446	c.1227T>C	c.(1225-1227)tgT>tgC	p.C409C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	409					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.T408M(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCTTTGTCACACGTATCAC	0.308			N		medulloblastoma								G	151960173	A	G	151960173	2	3	39	1	0	0	0	0	0	0	0	1	9697	157	6	3		3	MLL3	7	151960173	Silent	SNP	A	TCGA-06-0188-01A-01W-0254-08	104124585	151960173	7178490	25	2378											
RIMS2	9699	broad.mit.edu	37	chr8	105026843	105026843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagggaacgttggatagaAgtaagttttatttctaattg	14	14	10	3	1	1	1	0	0	1	1	1	3	1	3	0	2	1	3	0	2	7	8			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105026843A>G	uc003yls.3	+	17	2795	c.2554_splice	c.e17+1	p.N852_splice	RIMS2_uc003ylp.3_Splice_Site_p.K1112_splice|RIMS2_uc003ylw.2_Splice_Site_p.N926_splice|RIMS2_uc003ylq.3_Splice_Site_p.K926_splice|RIMS2_uc003ylr.3_Splice_Site_p.K951_splice	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1174	C2 1.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTTGGATAGAAGTAAGTTTTA	0.418										HNSCC(12;0.0054)			G	105026843	A	G	105026843	3	3	39	1	0	0	0	0	1	0	0	0	13459	86	3	3	3604	3	RIMS2	8	105026843	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08		105026843	41337179	26	2379											
DPYS	1807	broad.mit.edu	37	chr8	105456494	105456494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctctccttgcatccgCtatcaccttagctgcagact	8	12	5	16	1	2	1	1	0	1	1	5	1	4	1	4	0	3	4	4	0	2	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:105456494C>A	uc003yly.4	-	3	904	c.775G>T	c.(775-777)Gcg>Tcg	p.A259S		NM_001385	NP_001376	Q14117	DPYS_HUMAN	Homo sapiens dihydropyrimidinase (DPYS), mRNA.	259					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CTTGCATCCGCTATCACCTTA	0.493													A	105456494	C	A	105456494	3	1	39	1	0	0	0	0	1	0	0	0	4785	797	28	4	808	4	DPYS	8	105456494	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	429651	105456494	40907528	27	2380											
COL14A1	7373	broad.mit.edu	37	chr8	121259908	121259908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaatggtataaccggttgCgcattacgtgggacccccca	10	8	12	11	3	0	0	0	0	0	0	0	2	0	2	4	4	3	3	4	4	4	4			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:121259908C>T	uc003yox.3	+	20	2801	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	COL14A1_uc003yoy.3_Missense_Mutation_p.R524C	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	846	Fibronectin type-III 7.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.R846S(2)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TAACCGGTTGCGCATTACGTG	0.458													T	121259908	C	T	121259908	3	4	39	1	0	0	0	0	1	0	0	0	3702	768	27	1	2614	1	COL14A1	8	121259908	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	15803414	121259908	25104114	28	2381											
TG	7038	broad.mit.edu	37	chr8	133879299	133879299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccatctgctgggtgtcGgccaatatcttcggtaagtt	6	13	11	11	2	2	0	0	0	2	0	5	0	3	0	3	3	1	3	3	3	3	4	rs145163419	byFrequency	TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr8:133879299G>A	uc003ytw.3	+	0	95	c.54G>A	c.(52-54)tcG>tcA	p.S18S		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	18					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GCTGGGTGTCGGCCAATATCT	0.617													A	133879299	G	A	133879299	2	1	39	1	0	0	0	0	0	0	0	1	15913	1103	39	1		1	TG	8	133879299	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	12619391	133879299	12484723	29	2382											
PRUNE2	158471	broad.mit.edu	37	chr9	79469120	79469120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctccaagcgtttgcttCgattctgaaacaaattcaaa	12	13	5	11	2	3	1	1	1	2	0	5	2	3	1	2	0	3	2	2	0	4	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:79469120C>T	uc010mpk.3	-	1	165	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	PRUNE2_uc022bih.1_5'UTR|PRUNE2_uc004akn.3_Missense_Mutation_p.R14Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	14					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GCGTTTGCTTCGATTCTGAAA	0.328													T	79469120	C	T	79469120	3	4	39	1	0	0	0	0	1	0	0	0	12726	884	31	1	9297	1	PRUNE2	9	79469120	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		79469120	61744311	30	2383											
AKNA	80709	broad.mit.edu	37	chr9	117129898	117129898	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactggtcctcagagatgtcCcggttctccggaagccaccc	7	8	11	15	2	2	1	1	0	1	1	5	4	4	2	5	3	1	1	5	3	1	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117129898C>T	uc004biq.3	-	4	1788	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	AKNA_uc004bio.3_Silent_p.R11R|AKNA_uc004bip.3_Silent_p.R470R|AKNA_uc004bir.3_Silent_p.R551R|AKNA_uc004bis.3_Silent_p.R551R|AKNA_uc010mve.2_Silent_p.R432R|AKNA_uc004biu.1_Silent_p.R292R|AKNA_uc004biv.1_Silent_p.R551R	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	551					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CAGAGATGTCCCGGTTCTCCG	0.617													T	117129898	C	T	117129898	2	4	39	1	0	0	0	0	0	0	0	1	463	610	22	2		2	AKNA	9	117129898	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	37660778	117129898	24083533	31	2384											
TNC	3371	broad.mit.edu	37	chr9	117797581	117797581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtttccgactgaacctCagtagcagtcaagtctcttg	9	11	10	11	1	3	1	2	1	1	0	5	2	4	1	2	1	2	4	2	1	3	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:117797581C>T	uc004bjj.4	-	21	6101	c.5689G>A	c.(5689-5691)Gag>Aag	p.E1897K	TNC_uc010mvf.3_Missense_Mutation_p.E1624K|TNC_uc022bmj.1_Missense_Mutation_p.E1534K	NM_002160	NP_002151	P24821	TENA_HUMAN	Homo sapiens tenascin C (TNC), mRNA.	1897	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.E1897K(2)|p.E1897D(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACTGAACCTCAGTAGCAGTC	0.517													T	117797581	C	T	117797581	3	4	39	1	0	0	0	0	1	0	0	0	16370	835	29	2	944	2	TNC	9	117797581	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	667683	117797581	23415850	32	2385											
OR5C1	392391	broad.mit.edu	37	chr9	125551260	125551260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgcccctgctgaattcGtcctcctgggcatcacaaat	7	11	9	14	2	1	1	1	1	0	0	4	1	3	1	4	2	2	3	4	2	2	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr9:125551260G>A	uc011lzd.2	+	0	49	c.49G>A	c.(49-51)Gtc>Atc	p.V17I		NM_001001923	NP_001001923	Q8NGR4	OR5C1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily C, member 1 (OR5C1), mRNA.	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						TGCTGAATTCGTCCTCCTGGG	0.587													A	125551260	G	A	125551260	3	1	39	1	0	0	0	0	1	0	0	0	11229	1145	40	1	51	1	OR5C1	9	125551260	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	7753679	125551260	15662171	33	2386											
PTEN	5728	broad.mit.edu	37	chr10	89720812	89720812	+	Frame_Shift_Del	DEL	A	A	-																															tatctagtacttactttaacAaaaaatgatcttgacaaagc																								rs121913291		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr10:89720812delA	uc001kfb.3	+	7	1995	c.963delA	c.(961-963)acafs	p.T321fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	321	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*23(19)|p.T321fs*3(15)|p.R55fs*1(5)|p.L320*(3)|p.T319_K332del(2)|p.T321fs*22(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.N323fs*2(2)|p.G165_*404del(1)|p.L320V(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.T321fs*4(1)|p.T321fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACTTTAACAAAAAATGATC	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720812	A	-	89720812	7	5	39	1	0	1	0	1	0	0	0	0	12823	117	5	0	993	0	PTEN	10	89720812	Frame_Shift_Del	DEL	A	TCGA-06-0188-01A-01W-0254-08		89720812	45813935	34	2387											
MMP26	56547	broad.mit.edu	37	chr11	5013297	5013297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccacttactggtatcaCgaccctagaaccttccagct	10	10	5	16	1	1	1	1	0	0	1	2	2	2	1	5	1	4	2	5	1	5	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:5013297C>T	uc001lzv.3	+	4	717	c.699C>T	c.(697-699)caC>caT	p.H233H		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	233					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACTGGTATCACGACCCTAGAA	0.488													T	5013297	C	T	5013297	2	4	39	1	0	0	0	0	0	0	0	1	9739	535	19	1		1	MMP26	11	5013297	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08		5013297	129993219	35	2388											
OR52L1	338751	broad.mit.edu	37	chr11	6007615	6007615	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcagaagataagtttTcccaacaaaatggggaaggg	14	8	13	6	0	0	2	0	0	0	2	1	3	1	3	1	4	1	3	1	4	6	4			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:6007615T>C	uc001mcd.2	-	0	601	c.546A>G	c.(544-546)ggA>ggG	p.G182G		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATAAGTTTTCCCAACAAAA	0.488													C	6007615	T	C	6007615	2	2	39	1	0	0	0	0	0	0	0	1	11201	1770	62	3		3	OR52L1	11	6007615	Silent	SNP	T	TCGA-06-0188-01A-01W-0254-08	994318	6007615	128998901	36	2389											
MAP4K2	5871	broad.mit.edu	37	chr11	64568434	64568434	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaatggcagtgatgccCagggcccagacgtcacatag	11	6	12	12	1	2	2	2	1	0	1	2	2	2	2	2	2	2	2	2	2	2	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr11:64568434C>G	uc001obh.3	-	8	692	c.600G>C	c.(598-600)ctG>ctC	p.L200L	MAP4K2_uc001obi.3_Silent_p.L200L	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	200	Protein kinase.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CAGTGATGCCCAGGGCCCAGA	0.622													G	64568434	C	G	64568434	2	3	39	1	0	0	0	0	0	0	0	1	9335	581	21	4		4	MAP4K2	11	64568434	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08	58560819	64568434	70438082	37	2390											
PTPRB	5787	broad.mit.edu	37	chr12	70986066	70986066	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccaagactcacatgtTctgcccactgccatcttctg	8	10	8	15	0	4	1	1	0	3	1	4	2	4	2	3	1	3	1	3	1	1	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:70986066T>G	uc001swb.4	-	4	1152	c.1122A>C	c.(1120-1122)agA>agC	p.R374S	PTPRB_uc010sto.2_Missense_Mutation_p.R374S|PTPRB_uc010stp.2_Missense_Mutation_p.R374S|PTPRB_uc001swc.4_Missense_Mutation_p.R592S|PTPRB_uc001swa.4_Missense_Mutation_p.R592S|PTPRB_uc001swd.4_Missense_Mutation_p.R591S|PTPRB_uc009zrr.2_Missense_Mutation_p.R471S|PTPRB_uc001swe.3_Missense_Mutation_p.R592S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	374	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACTCACATGTTCTGCCCACTG	0.448													G	70986066	T	G	70986066	3	3	39	1	0	0	0	0	1	0	0	0	12884	1780	62	5	4983	5	PTPRB	12	70986066	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		70986066	62865829	38	2391											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr12:121176678G>A	uc001tza.4	+	7	1107	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_uc010szl.1_Missense_Mutation_p.R326H	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(4)|p.R330C(1)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642													A	121176678	G	A	121176678	3	1	39	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	50190612	121176678	12675217	39	2392											
RB1	5925	broad.mit.edu	37	chr13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgtttgtttgtagCgatacaaacttggagttcgc	7	19	9	6	2	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	9	rs3092891		TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48953730	C	T	48953730	4	4	39	1	0	0	0	0	0	1	0	0	13186	782	27	1	1387	1	RB1	13	48953730	Nonsense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		48953730	66216148	40	2393											
OR4K5	79317	broad.mit.edu	37	chr14	20389501	20389501	+	Frame_Shift_Del	DEL	G	G	-																															cgctggcttcccatattgcaGtagtaatattattctttgga																										TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr14:20389501delG	uc010tkw.2	+	0	736	c.736delG	c.(736-738)gtafs	p.V246fs		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A245A(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCATATTGCAGTAGTAATATT	0.398													-	20389501	G	-	20389501	7	5	39	1	0	1	0	1	0	0	0	0	11149	1029	36	0	738	0	OR4K5	14	20389501	Frame_Shift_Del	DEL	G	TCGA-06-0188-01A-01W-0254-08		20389501	86960039	41	2394											
DECR2	26063	broad.mit.edu	37	chr16	455001	455001	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcggctctgggattgggttCcggattgctgagattttcat	5	14	15	7	2	2	1	1	1	1	1	3	4	3	3	1	5	1	3	1	5	0	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:455001C>G	uc002chb.3	+	1	232	c.126C>G	c.(124-126)ttC>ttG	p.F42L	DECR2_uc021szq.1_Missense_Mutation_p.F42L|DECR2_uc002chc.3_5'UTR|DECR2_uc002chd.3_5'UTR|DECR2_uc002che.1_5'Flank	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	42						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				GGATTGGGTTCCGGATTGCTG	0.582													G	455001	C	G	455001	3	3	39	1	0	0	0	0	1	0	0	0	4417	854	30	4	132	4	DECR2	16	455001	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		455001	89899752	42	2395											
ITGAM	3684	broad.mit.edu	37	chr16	31284722	31284722	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaccaacggagcccgaaaGaatgcctttaagatcctagt	14	8	8	11	2	1	2	1	0	0	2	2	4	2	3	4	1	3	0	4	1	5	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31284722G>A	uc002ebr.3	+	7	839	c.741G>A	c.(739-741)aaG>aaA	p.K247K	ITGAM_uc002ebq.3_Silent_p.K247K|ITGAM_uc010cam.1_5'Flank	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	247	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GAGCCCGAAAGAATGCCTTTA	0.453													A	31284722	G	A	31284722	2	1	39	1	0	0	0	0	0	0	0	1	7945	933	33	2		2	ITGAM	16	31284722	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	30829721	31284722	59070031	43	2396											
ITGAM	3684	broad.mit.edu	37	chr16	31286937	31286937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcatccaagccgcctcGtgatcacgtgttccaggtga	8	9	10	14	4	1	2	1	2	0	0	5	2	3	2	4	1	1	2	4	1	1	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr16:31286937G>A	uc002ebr.3	+	8	1024	c.926G>A	c.(925-927)cGt>cAt	p.R309H	ITGAM_uc002ebq.3_Missense_Mutation_p.R309H|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	309	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						AAGCCGCCTCGTGATCACGTG	0.512													A	31286937	G	A	31286937	3	1	39	1	0	0	0	0	1	0	0	0	7945	1145	40	1	960	1	ITGAM	16	31286937	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	2215	31286937	59067816	44	2397											
ATP2A3	489	broad.mit.edu	37	chr17	3850757	3850757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgactgaggtgcagcccagGgtctccacggacggcaggct	8	6	15	12	2	1	2	0	2	1	0	2	3	1	3	2	5	2	3	2	5	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:3850757G>T	uc002fwy.2	-	7	1196	c.1023C>A	c.(1021-1023)acC>acA	p.T341T	ATP2A3_uc002fwz.2_Silent_p.T341T|ATP2A3_uc002fxa.2_Silent_p.T341T|ATP2A3_uc002fxb.2_Silent_p.T341T|ATP2A3_uc002fxc.2_Silent_p.T341T|ATP2A3_uc002fxd.2_Silent_p.T341T|ATP2A3_uc002fwx.2_Silent_p.T341T	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	341					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TGCAGCCCAGGGTCTCCACGG	0.647													T	3850757	G	T	3850757	2	4	39	1	0	0	0	0	0	0	0	1	1143	1219	43	4		4	ATP2A3	17	3850757	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08		3850757	77344453	45	2398											
TP53	7157	broad.mit.edu	37	chr17	7576926	7576927	+	Splice_Site	DNP	GC	GC	AT																															agctggtgttgttgggcagtGctaggaaagaggcaaggaaa																										TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:7576926_7576927GC>AT	uc002gim.2	-	9	1114	c.920_splice	c.e9-1	p.A307_splice	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Splice_Site_p.A307_splice|TP53_uc010cne.1_Splice_Site|TP53_uc010cng.1_Splice_Site_p.A175_splice|TP53_uc010cnf.1_Splice_Site_p.A175_splice|TP53_uc002gii.1_Splice_Site_p.A175_splice|TP53_uc010cni.1_Splice_Site_p.A307_splice|TP53_uc010cnh.1_Splice_Site_p.A307_splice|TP53_uc002gij.2_Splice_Site_p.A307_splice|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> 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.?(20)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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)		GTTGGGCAGTGCTAGGAAAGAG	0.49		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)			AT	7576927	GC	AT	7576926	5	1	39	1	0	0	0	0	0	0	1	0	16482	1333	46	2	362	2	TP53	17	7576926	Splice_Site	DNP	GC	TCGA-06-0188-01A-01W-0254-08	3726169	7576926	73618284	46	2399											
MYH8	4626	broad.mit.edu	37	chr17	10315706	10315706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaaagatttcaaagccaGcaatgtccaagaccccgatg	15	7	7	12	1	2	2	2	0	0	2	3	3	3	2	4	0	2	1	4	0	4	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:10315706G>A	uc002gmm.2	-	13	1492	c.1397C>T	c.(1396-1398)gCt>gTt	p.A466V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	466	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTCAAAGCCAGCAATGTCCAA	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10315706	G	A	10315706	3	1	39	1	0	0	0	0	1	0	0	0	10117	971	34	2	4524	2	MYH8	17	10315706	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	2738780	10315706	70879504	47	2400											
ACSF2	80221	broad.mit.edu	37	chr17	48540562	48540562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctctcccactacaacAttgtcaacaactccaacatt	13	9	1	18	0	2	0	1	0	1	0	4	0	3	0	4	0	5	0	4	0	5	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr17:48540562A>G	uc010wmm.1	+	7	1017	c.913A>G	c.(913-915)Att>Gtt	p.I305V	ACSF2_uc002iqu.2_Missense_Mutation_p.I280V|ACSF2_uc010wml.1_Missense_Mutation_p.I237V|ACSF2_uc010wmn.1_Missense_Mutation_p.I267V|ACSF2_uc010wmo.1_Missense_Mutation_p.I120V	NM_025149	NP_079425	Q96CM8	ACSF2_HUMAN	Homo sapiens acyl-CoA synthetase family member 2 (ACSF2), mRNA.	280					fatty acid metabolic process	mitochondrion	ATP binding|ligase activity			endometrium(7)|kidney(3)|large_intestine(1)|lung(1)|stomach(1)	13	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CCACTACAACATTGTCAACAA	0.597													G	48540562	A	G	48540562	3	3	39	1	0	0	0	0	1	0	0	0	175	217	8	3	864	3	ACSF2	17	48540562	Missense_Mutation	SNP	A	TCGA-06-0188-01A-01W-0254-08	38224856	48540562	32654648	48	2401											
RAVER1	125950	broad.mit.edu	37	chr19	10434237	10434237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcccatcctggccgcaCgccagctgccggaggaaggc	7	4	14	16	3	0	0	0	0	0	0	1	2	1	2	5	4	4	3	5	4	1	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr19:10434237C>T	uc002moa.3	-	3	893	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	254	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CCTGGCCGCACGCCAGCTGCC	0.652													T	10434237	C	T	10434237	2	4	39	1	0	0	0	0	0	0	0	1	13182	523	19	1		1	RAVER1	19	10434237	Silent	SNP	C	TCGA-06-0188-01A-01W-0254-08		10434237	48694746	49	2402											
ITSN1	6453	broad.mit.edu	37	chr21	35230998	35230998	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcatctgtagatttttcaAaaacccctgatggagtctga	11	13	8	9	0	3	3	1	2	2	1	3	4	3	4	2	1	2	2	2	1	3	3			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:35230998A>G	uc002yta.1	+	30	4060	c.3792A>G	c.(3790-3792)caA>caG	p.Q1264Q	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Silent_p.Q1259Q|ITSN1_uc002ytj.2_Silent_p.Q1259Q|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1264	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.Q1264K(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGATTTTTCAAAAACCCCTGA	0.428													G	35230998	A	G	35230998	2	3	39	1	0	0	0	0	0	0	0	1	7984	11	1	3		3	ITSN1	21	35230998	Silent	SNP	A	TCGA-06-0188-01A-01W-0254-08		35230998	12898897	50	2403											
UMODL1	89766	broad.mit.edu	37	chr21	43524017	43524017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgtctgacttgtacCgaagtgggaagctgagaatg	10	10	15	6	1	1	2	0	2	1	1	1	5	1	3	1	2	2	2	1	2	4	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:43524017C>T	uc002zag.1	+	8	1339	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*	UMODL1_uc002zad.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zae.1_Nonsense_Mutation_p.R375*|UMODL1_uc002zaf.1_Nonsense_Mutation_p.R447*|UMODL1_uc010gow.1_Nonsense_Mutation_p.R239*|UMODL1_uc002zai.1_Nonsense_Mutation_p.R98*|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Nonsense_Mutation_p.R98*|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Nonsense_Mutation_p.R192*|C21orf128_uc002zak.2_Silent_p.S72S	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	447	SEA 1.		R -> Q.			cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TGACTTGTACCGAAGTGGGAA	0.562													T	43524017	C	T	43524017	4	4	39	1	0	0	0	0	0	1	0	0	17082	644	23	1	1373	1	UMODL1	21	43524017	Nonsense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08	8293019	43524017	4605878	51	2404											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978434	45978434	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggccgcctggcagcagggGctggacacacagctcactgg	8	4	15	14	1	1	0	1	0	0	0	1	1	1	1	2	6	2	4	2	6	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr21:45978434G>A	uc002zfj.1	-	0	210	c.165C>T	c.(163-165)agC>agT	p.S55S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	55	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGCAGCAGGGGCTGGACACAC	0.711													A	45978434	G	A	45978434	2	1	39	1	0	0	0	0	0	0	0	1	8568	1194	42	2		2	KRTAP10-3	21	45978434	Silent	SNP	G	TCGA-06-0188-01A-01W-0254-08	2454417	45978434	2151461	52	2405											
LZTR1	8216	broad.mit.edu	37	chr22	21351542	21351542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaagttgcccaccctgCggtcgctgagccagcagctg	6	8	11	16	2	1	1	0	1	1	0	3	1	1	1	4	1	5	4	4	1	1	1			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chr22:21351542C>T	uc002zto.3	+	20	2531	c.2428C>T	c.(2428-2430)Cgg>Tgg	p.R810W	LZTR1_uc002ztn.3_Missense_Mutation_p.R769W|LZTR1_uc011ahy.2_Missense_Mutation_p.R791W	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	810					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.R810W(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCCCACCCTGCGGTCGCTGAG	0.642													T	21351542	C	T	21351542	3	4	39	1	0	0	0	0	1	0	0	0	9208	759	27	1	2510	1	LZTR1	22	21351542	Missense_Mutation	SNP	C	TCGA-06-0188-01A-01W-0254-08		21351542	29953024	53	2406											
ZNF41	7592	broad.mit.edu	37	chrX	47308259	47308259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggggaagactttgttgcTtttgtcacattcacgggact	7	14	12	8	1	2	1	2	0	0	1	2	3	2	3	0	3	1	2	0	3	1	5			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:47308259T>C	uc004dhs.4	-	3	1103	c.1036A>G	c.(1036-1038)Agc>Ggc	p.S346G	ZNF41_uc004dhu.4_Missense_Mutation_p.S338G|ZNF41_uc004dht.4_Missense_Mutation_p.S218G|ZNF41_uc004dhv.4_Missense_Mutation_p.S314G|ZNF41_uc004dhw.4_Missense_Mutation_p.S306G|ZNF41_uc004dhy.4_Missense_Mutation_p.S304G|ZNF41_uc004dhx.4_Missense_Mutation_p.S304G|ZNF41_uc011mlm.2_Missense_Mutation_p.S218G	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	346						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACTTTGTTGCTTTTGTCACAT	0.418													C	47308259	T	C	47308259	3	2	39	1	0	0	0	0	1	0	0	0	17990	1609	56	3	1433	3	ZNF41	23	47308259	Missense_Mutation	SNP	T	TCGA-06-0188-01A-01W-0254-08		47308259	107962301	54	2407											
BCORL1	63035	broad.mit.edu	37	chrX	129190028	129190028	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccccccaggctcctctGagactgtggagctggtgcgg	5	8	14	14	1	1	1	0	1	1	1	3	4	3	2	4	4	2	2	4	4	0	0			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:129190028G>T	uc022cdu.1	+	11	5097	c.5053G>T	c.(5053-5055)Gag>Tag	p.E1685*	BCORL1_uc004evc.2_Nonsense_Mutation_p.E521*	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1685					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGGCTCCTCTGAGACTGTGGA	0.627													T	129190028	G	T	129190028	4	4	39	1	0	0	0	0	0	1	0	0	1392	1291	45	4	5325	4	BCORL1	23	129190028	Nonsense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	81881769	129190028	26080532	55	2408											
PASD1	139135	broad.mit.edu	37	chrX	150770028	150770028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtcactgaataatgaatGaagatgagaggggaaaagag	18	7	13	3	1	1	6	1	4	0	3	1	8	1	7	0	2	1	0	0	2	7	2			TCGA-06-0188-01A-01W-0254-08	TCGA-06-0188-10B-01W-0254-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc0c78e7-1d76-45e6-b043-dc209bb9a32a	bb4d23a6-f348-4f55-b06f-0c47175c8836	g.chrX:150770028G>T	uc004fev.4	+	1	335	c.3G>T	c.(1-3)atG>atT	p.M1I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	1						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAATGAAGATGAGAG	0.408													T	150770028	G	T	150770028	3	4	39	1	0	0	0	0	1	0	0	0	11547	1290	45	4	5	4	PASD1	23	150770028	Missense_Mutation	SNP	G	TCGA-06-0188-01A-01W-0254-08	21580000	150770028	4500532	56	2409											
HMCN1	83872	broad.mit.edu	37	chr1	185815175	185815175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaattggcccagtgacaAttaccacagatcccaagaaa	17	6	7	11	0	0	4	0	1	0	3	1	4	1	4	3	1	1	0	3	1	5	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr1:185815175A>T	uc001grq.1	+	1	515	c.286A>T	c.(286-288)Att>Ttt	p.I96F		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	96	VWFA.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCCAGTGACAATTACCACAGA	0.358													T	185815175	A	T	185815175	3	4	40	1	0	0	0	0	1	0	0	0	7275	101	4	5	292	5	HMCN1	1	185815175	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		185815175	63435446	1	2410											
UXS1	80146	broad.mit.edu	37	chr2	106761696	106761696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaatcaactcgaagttcTcatgtccgatccagtgctcc	9	12	8	12	2	2	0	2	0	1	0	7	2	5	0	3	1	2	3	3	1	3	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:106761696T>C	uc002tdm.3	-	5	505	c.407A>G	c.(406-408)gAg>gGg	p.E136G	UXS1_uc002tdn.3_Missense_Mutation_p.E141G|UXS1_uc002tdo.3_Missense_Mutation_p.E79G|UXS1_uc010ywh.2_Intron	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	136					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity	p.E135Q(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CTCGAAGTTCTCATGTCCGAT	0.512													C	106761696	T	C	106761696	3	2	40	1	0	0	0	0	1	0	0	0	17211	1551	54	3	895	3	UXS1	2	106761696	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		106761696	136437677	2	2411											
NCKAP5	344148	broad.mit.edu	37	chr2	133541813	133541813	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatctgatcgtaattcAaagaggggccctgagctctc	9	11	12	9	1	3	3	1	2	2	1	5	4	3	4	1	3	1	2	1	3	2	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr2:133541813A>C	uc002ttp.3	-	13	2945	c.2571T>G	c.(2569-2571)ttT>ttG	p.F857L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	857							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						ATCGTAATTCAAAGAGGGGCC	0.532													C	133541813	A	C	133541813	3	2	40	1	0	0	0	0	1	0	0	0	10299	127	5	5	3186	5	NCKAP5	2	133541813	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	26780117	133541813	109657560	3	2412											
TM4SF19	116211	broad.mit.edu	37	chr3	196051173	196051173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctttgaatgggtaaccatAtttccaagcttgtgtctgat	9	16	9	7	0	2	2	0	2	2	0	3	2	3	2	2	1	2	2	2	1	4	5			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr3:196051173A>G	uc010iad.2	-	3	576	c.418T>C	c.(418-420)Tat>Cat	p.Y140H	TM4SF19_uc003fwj.3_Non-coding_Transcript|AK124973_uc003fwk.1_3'UTR|TM4SF19_uc003fwl.2_Missense_Mutation_p.Y140H|TM4SF19_uc021xjs.1_Missense_Mutation_p.Y140H|TM4SF19_uc011btv.2_Missense_Mutation_p.Y114H	NM_001204897	NP_001191826	Q96DZ7	T4S19_HUMAN	Homo sapiens transmembrane 4 L six family member 19 (TM4SF19), transcript variant 2, mRNA.	140						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GGGTAACCATATTTCCAAGCT	0.438													G	196051173	A	G	196051173	3	3	40	1	0	0	0	0	1	0	0	0	16068	449	16	3	219	3	TM4SF19	3	196051173	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		196051173	1971257	4	2413											
UGT2B4	7363	broad.mit.edu	37	chr4	70359506	70359506	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaaaatcccagtagtttcGaataagccatatgtcagctt	13	13	7	8	1	1	1	1	1	0	0	3	2	2	1	2	0	2	3	2	0	6	6			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr4:70359506G>A	uc003hek.4	-	1	822	c.775C>T	c.(775-777)Cga>Tga	p.R259*	UGT2B4_uc011cap.2_Nonsense_Mutation_p.R123*|UGT2B4_uc003hel.4_Nonsense_Mutation_p.R259*	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	259					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGTAGTTTCGAATAAGCCAT	0.413													A	70359506	G	A	70359506	4	1	40	1	0	0	0	0	0	1	0	0	17063	1066	37	1	831	1	UGT2B4	4	70359506	Nonsense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		70359506	120794770	5	2414											
STK10	6793	broad.mit.edu	37	chr5	171520876	171520876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagactggctgggtgccagcGgggtggaaggtgactcctcg	6	7	19	9	2	0	2	0	1	0	1	2	4	1	3	2	6	2	1	2	6	1	0			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr5:171520876G>A	uc003mbo.1	-	8	1394	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	365							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGGTGCCAGCGGGGTGGAAGG	0.587													A	171520876	G	A	171520876	3	1	40	1	0	0	0	0	1	0	0	0	15382	1116	39	1	1856	1	STK10	5	171520876	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		171520876	9394384	6	2415											
RUNX2	860	broad.mit.edu	37	chr6	45514682	45514682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctttacttacaccccGccagtcacctcaggcatgtc	8	9	6	18	1	2	0	2	0	0	0	3	0	2	0	6	1	2	1	6	1	2	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr6:45514682G>A	uc011dvx.2	+	8	1416	c.1206G>A	c.(1204-1206)ccG>ccA	p.P402P	RUNX2_uc011dvy.2_Silent_p.P380P|RUNX2_uc003oxt.3_Silent_p.P388P	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	402	Interaction with MYST3 (By similarity).|Interaction with MYST4.|Pro/Ser/Thr-rich.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CTTACACCCCGCCAGTCACCT	0.577													A	45514682	G	A	45514682	2	1	40	1	0	0	0	0	0	0	0	1	13839	1074	38	1		1	RUNX2	6	45514682	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08		45514682	125600385	7	2416											
WBSCR27	155368	broad.mit.edu	37	chr7	73249094	73249094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttcctcaacctgggtcgCcttccactttcggtacaggt	6	12	8	15	2	1	0	1	0	0	0	5	0	3	0	4	3	2	1	4	3	2	4			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:73249094C>T	uc003tzj.2	-	5	757	c.717G>A	c.(715-717)agG>agA	p.R239R		NM_152559	NP_689772	Q8N6F8	WBS27_HUMAN	Homo sapiens Williams Beuren syndrome chromosome region 27 (WBSCR27), mRNA.	239										NS(1)|central_nervous_system(1)|lung(2)|prostate(1)	5		Lung NSC(55;0.159)				ACCTGGGTCGCCTTCCACTTT	0.632													T	73249094	C	T	73249094	2	4	40	1	0	0	0	0	0	0	0	1	17368	738	26	2		2	WBSCR27	7	73249094	Silent	SNP	C	TCGA-06-0189-01A-01D-1491-08		73249094	85889569	8	2417											
CUX1	1523	broad.mit.edu	37	chr7	101847816	101847816	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgttctacccgtccAgggccagcagcaagggccag	8	5	14	14	1	1	0	0	0	1	0	2	0	2	0	5	3	3	3	5	3	2	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:101847816A>G	uc003uys.4	+	18	3213	c.3086A>G	c.(3085-3087)cAg>cGg	p.Q1029R	CUX1_uc003uyw.3_Intron|CUX1_uc003uyv.3_Intron|CUX1_uc003uyt.3_Intron|CUX1_uc003uyu.3_Intron|CUX1_uc011kkn.2_Intron|CUX1_uc003uyx.4_Missense_Mutation_p.Q1018R	NM_001202543	NP_001189472	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 4, mRNA.	1018					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CTACCCGTCCAGGGCCAGCAG	0.647													G	101847816	A	G	101847816	3	3	40	1	0	0	0	0	1	0	0	0	4097	188	7	3	3194	3	CUX1	7	101847816	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	28598722	101847816	57290847	9	2418											
AASS	10157	broad.mit.edu	37	chr7	121756793	121756793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgacgacttaacaccGtcccatacacttttctgagg	11	11	8	11	2	1	3	0	3	1	0	2	5	2	3	2	1	2	0	2	1	2	4			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:121756793G>A	uc003vka.3	-	6	884	c.788C>T	c.(787-789)aCg>aTg	p.T263M	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Missense_Mutation_p.T263M|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	263	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity	p.T263T(2)|p.T263M(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACTTAACACCGTCCCATACAC	0.353													A	121756793	G	A	121756793	3	1	40	1	0	0	0	0	1	0	0	0	24	1145	40	1	2060	1	AASS	7	121756793	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	19908977	121756793	37381870	10	2419											
GRM8	2918	broad.mit.edu	37	chr7	126882805	126882805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggagcttgctgcagcacCtatgacgccagaaatcttgt	10	9	10	12	2	1	2	0	1	1	1	1	3	1	3	2	1	4	4	2	1	2	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr7:126882805C>G	uc003vlr.2	-	0	765	c.454G>C	c.(454-456)Ggt>Cgt	p.G152R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G152R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	152					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GCTGCAGCACCTATGACGCCA	0.433										HNSCC(24;0.065)			G	126882805	C	G	126882805	3	3	40	1	0	0	0	0	1	0	0	0	6858	681	24	4	2362	4	GRM8	7	126882805	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08	5126012	126882805	32255858	11	2420											
PHF20L1	51105	broad.mit.edu	37	chr8	133829196	133829196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggagaagaagatctcAgcgtttagccaccttaccca	12	8	10	11	2	1	4	1	1	1	3	2	5	1	4	3	1	4	1	3	1	4	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr8:133829196A>C	uc003ytt.3	+	10	1572	c.1247A>C	c.(1246-1248)cAg>cCg	p.Q416P	PHF20L1_uc003yts.3_Missense_Mutation_p.Q416P|PHF20L1_uc011lja.2_Missense_Mutation_p.Q390P|PHF20L1_uc003ytu.1_Intron	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	416							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AGAAGATCTCAGCGTTTAGCC	0.453													C	133829196	A	C	133829196	3	2	40	1	0	0	0	0	1	0	0	0	11909	188	7	5	1291	5	PHF20L1	8	133829196	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08		133829196	12534826	12	2421											
OR5D13	390142	broad.mit.edu	37	chr11	55541191	55541191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttggttgtggaatacagaaCcatctctttctctggttgca	8	15	9	9	0	2	1	0	0	2	1	4	2	2	2	1	3	3	3	1	3	3	5			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr11:55541191C>A	uc010ril.2	+	0	278	c.278C>A	c.(277-279)aCc>aAc	p.T93N		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GAATACAGAACCATCTCTTTC	0.398													A	55541191	C	A	55541191	3	1	40	1	0	0	0	0	1	0	0	0	11230	507	18	4	280	4	OR5D13	11	55541191	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		55541191	79465325	13	2422											
ABCC9	10060	broad.mit.edu	37	chr12	22069980	22069980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccaagccagactgacagTacttaaccaattttattgtt	12	14	6	9	0	0	2	0	1	0	1	1	2	1	2	3	0	3	2	3	0	5	6			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:22069980T>C	uc001rfh.3	-	3	484	c.464A>G	c.(463-465)tAc>tGc	p.Y155C	ABCC9_uc001rfi.1_Missense_Mutation_p.Y155C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	155					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGACTGACAGTACTTAACCAA	0.388													C	22069980	T	C	22069980	3	2	40	1	0	0	0	0	1	0	0	0	59	1638	57	3	4467	3	ABCC9	12	22069980	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		22069980	111781915	14	2423											
PKP2	5318	broad.mit.edu	37	chr12	33030958	33030958	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgccaggaggacctggAagccctgttctgagtgacgg	8	8	15	10	1	1	3	0	3	1	0	1	6	1	6	3	4	2	1	3	4	1	1			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:33030958A>C	uc001rlj.4	-	2	971	c.856T>G	c.(856-858)Tcc>Gcc	p.S286A	PKP2_uc001rlk.4_Missense_Mutation_p.S286A|PKP2_uc010skj.2_Missense_Mutation_p.S286A	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	286					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAGGACCTGGAAGCCCTGTTC	0.652													C	33030958	A	C	33030958	3	2	40	1	0	0	0	0	1	0	0	0	12062	246	9	5	1837	5	PKP2	12	33030958	Missense_Mutation	SNP	A	TCGA-06-0189-01A-01D-1491-08	10960978	33030958	100820937	15	2424											
MFSD5	84975	broad.mit.edu	37	chr12	53647741	53647741	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatccctgagacagagcaGgctggtgtactcaactggtt	9	10	13	9	0	1	3	1	2	0	2	2	4	2	3	1	3	3	4	1	3	2	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:53647741G>A	uc001sch.2	+	1	1590	c.1443G>A	c.(1441-1443)caG>caA	p.Q481Q	MFSD5_uc001sci.2_Silent_p.Q374Q|MFSD5_uc021qye.1_Silent_p.Q374Q	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	374					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						AGACAGAGCAGGCTGGTGTAC	0.502													A	53647741	G	A	53647741	2	1	40	1	0	0	0	0	0	0	0	1	9609	991	35	2		2	MFSD5	12	53647741	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08	20616783	53647741	80204154	16	2425											
GLT1D1	144423	broad.mit.edu	37	chr12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagggcacgtgtgcGttttgaaggatgcctttgac	7	11	15	8	2	0	2	0	2	0	0	0	3	0	3	1	3	3	4	1	3	1	3	rs146263464	byFrequency	TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr12:129360490G>A	uc010tbh.1	+	1	76	c.67G>A	c.(67-69)Gtt>Att	p.V23I	GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	34					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													A	129360490	G	A	129360490	3	1	40	1	0	0	0	0	1	0	0	0	6521	1145	40	1	106	1	GLT1D1	12	129360490	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	75712749	129360490	4491405	17	2426											
PLA2G4E	123745	broad.mit.edu	37	chr15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacactcaactctagcaCgttctaggggagaaggaagg	14	6	12	9	1	3	2	1	0	2	2	3	4	3	3	0	4	2	2	0	4	5	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:42298316C>T	uc021sjp.1	-	3	397	c.397G>A	c.(397-399)Gtg>Atg	p.V133M		NM_001206670	NP_001193599	Q3MJ16	PA24E_HUMAN	Homo sapiens phospholipase A2, group IVE (PLA2G4E), mRNA.	115	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507													T	42298316	C	T	42298316	3	4	40	1	0	0	0	0	1	0	0	0	12082	536	19	1	2277	1	PLA2G4E	15	42298316	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		42298316	60233076	18	2427											
DET1	55070	broad.mit.edu	37	chr15	89070986	89070986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagcaatcacctctgtcGtcaccatattgtacaccaca	13	9	4	15	1	3	0	2	0	1	0	4	0	3	0	3	0	2	2	3	0	3	3			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr15:89070986G>A	uc002bmq.2	-	3	1337	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M	DET1_uc002bmp.4_Non-coding_Transcript|DET1_uc002bmr.2_Missense_Mutation_p.T372M|DET1_uc010bnk.2_Intron	NM_017996	NP_001137546	Q7L5Y6	DET1_HUMAN	Homo sapiens de-etiolated homolog 1 (Arabidopsis) (DET1), transcript variant 1, mRNA.	372						nucleus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			CACCTCTGTCGTCACCATATT	0.433													A	89070986	G	A	89070986	3	1	40	1	0	0	0	0	1	0	0	0	4489	1145	40	1	549	1	DET1	15	89070986	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	46772670	89070986	13460406	19	2428											
CACNA1H	8912	broad.mit.edu	37	chr16	1257299	1257299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccaggaggactggaacGtggtcctgtacaacggcatg	10	7	14	10	2	0	1	0	1	0	0	1	4	1	4	2	5	3	2	2	5	3	1			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr16:1257299G>A	uc002cks.3	+	13	3180	c.2932G>A	c.(2932-2934)Gtg>Atg	p.V978M	CACNA1H_uc002ckt.3_Missense_Mutation_p.V978M|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	978					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GGACTGGAACGTGGTCCTGTA	0.632													A	1257299	G	A	1257299	3	1	40	1	0	0	0	0	1	0	0	0	2571	1145	40	1	2982	1	CACNA1H	16	1257299	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		1257299	89097454	20	2429											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	40	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		7578406	73616804	21	2430											
ATP6V0A1	535	broad.mit.edu	37	chr17	40646356	40646356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggtttcttcatagctccGtatactattatcacgttccc	7	18	5	11	2	3	0	2	0	1	0	5	0	5	0	2	1	2	4	2	1	5	9	rs142629560		TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr17:40646356G>A	uc002hzs.3	+	11	1367	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	ATP6V0A1_uc002hzr.3_Silent_p.P393P|ATP6V0A1_uc002hzq.3_Silent_p.P393P|ATP6V0A1_uc010wgj.2_Silent_p.P350P|ATP6V0A1_uc010wgk.2_Silent_p.P350P|ATP6V0A1_uc010cyg.3_Silent_p.P39P|ATP6V0A1_uc010wgl.2_Silent_p.P252P	NM_001130020	NP_001123492	Q93050	VPP1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a1 (ATP6V0A1), transcript variant 1, mRNA.	393					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytoplasmic vesicle membrane|endosome membrane|Golgi apparatus|integral to membrane|melanosome|nucleus|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|urinary_tract(3)	26		all_cancers(22;1.18e-05)|Breast(137;0.000105)|all_epithelial(22;0.000254)		BRCA - Breast invasive adenocarcinoma(366;0.137)		TCATAGCTCCGTATACTATTA	0.368													A	40646356	G	A	40646356	2	1	40	1	0	0	0	0	0	0	0	1	1173	1132	40	1		1	ATP6V0A1	17	40646356	Silent	SNP	G	TCGA-06-0189-01A-01D-1491-08	33067950	40646356	40548854	22	2431											
STXBP2	6813	broad.mit.edu	37	chr19	7711219	7711219	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctggaccccggtcatcaagGatgtaatggaggtactgggt	9	9	15	8	1	2	0	2	0	0	0	2	3	2	3	2	6	1	3	2	6	3	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:7711219G>C	uc010xjr.2	+	15	1519	c.1474G>C	c.(1474-1476)Gat>Cat	p.D492H	STXBP2_uc002mha.4_Missense_Mutation_p.D481H|STXBP2_uc002mhb.4_Missense_Mutation_p.D478H|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_Missense_Mutation_p.D109H	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	481					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GGTCATCAAGGATGTAATGGA	0.677													C	7711219	G	C	7711219	3	2	40	1	0	0	0	0	1	0	0	0	15449	1174	41	4	1503	4	STXBP2	19	7711219	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08		7711219	51417764	23	2432											
MUC16	94025	broad.mit.edu	37	chr19	9045842	9045842	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctggaaaattctgggggtCcaactgaagttacagatggt	11	11	12	7	0	1	2	0	1	1	1	3	3	3	3	2	4	2	1	2	4	5	2			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr19:9045842C>G	uc002mkp.3	-	4	35993	c.35789G>C	c.(35788-35790)gGa>gCa	p.G11930A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11932	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						TTCTGGGGGTCCAACTGAAGT	0.493													G	9045842	C	G	9045842	3	3	40	1	0	0	0	0	1	0	0	0	10049	855	30	4	8054	4	MUC16	19	9045842	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08	1334623	9045842	50083141	24	2433											
CST9	128822	broad.mit.edu	37	chr20	23586397	23586397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actattttattattaccaccCatttcctcttcagaacacca	12	15	1	13	0	2	1	1	0	1	1	3	1	3	1	4	0	2	0	4	0	5	7			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:23586397C>T	uc002wtl.3	-	0	214	c.105G>A	c.(103-105)atG>atA	p.M35I		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	35						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TATTACCACCCATTTCCTCTT	0.517													T	23586397	C	T	23586397	3	4	40	1	0	0	0	0	1	0	0	0	4012	594	21	2	382	2	CST9	20	23586397	Missense_Mutation	SNP	C	TCGA-06-0189-01A-01D-1491-08		23586397	39439123	25	2434											
NPBWR2	2832	broad.mit.edu	37	chr20	62738130	62738130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgttggcacccatcgtggGgagggagaaggagcccctgc	8	5	17	11	2	0	1	0	0	0	1	1	5	0	3	3	5	2	2	3	5	1	1			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chr20:62738130G>A	uc011abt.2	-	0	55	c.55C>T	c.(55-57)Ccc>Tcc	p.P19S		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	19						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CCCATCGTGGGGAGGGAGAAG	0.637													A	62738130	G	A	62738130	3	1	40	1	0	0	0	0	1	0	0	0	10645	1232	43	2	949	2	NPBWR2	20	62738130	Missense_Mutation	SNP	G	TCGA-06-0189-01A-01D-1491-08	39151733	62738130	287390	26	2435											
CXorf23	256643	broad.mit.edu	37	chrX	19968977	19968977	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatttggatctattatttTgatcagagtctgaggaattt	10	18	9	4	0	4	3	2	2	2	1	4	5	4	5	0	2	0	0	0	2	3	6			TCGA-06-0189-01A-01D-1491-08	TCGA-06-0189-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25c64c53-746c-4e92-976a-8bd947fb9c7f	3782bae7-658a-4167-9d2b-8e8cdcffc69f	g.chrX:19968977T>G	uc004czp.3	-	6	1639	c.1639A>C	c.(1639-1641)Aaa>Caa	p.K547Q	CXorf23_uc011mjg.2_Missense_Mutation_p.K112Q|CXorf23_uc004czo.3_Missense_Mutation_p.K497Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	547						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCTATTATTTTGATCAGAGTC	0.363													G	19968977	T	G	19968977	3	3	40	1	0	0	0	0	1	0	0	0	4136	1821	63	5	429	5	CXorf23	23	19968977	Missense_Mutation	SNP	T	TCGA-06-0189-01A-01D-1491-08		19968977	135301583	27	2436											
MECR	51102	broad.mit.edu	37	chr1	29557372	29557372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcagcccccgccacTgccgggcgggggttcgcacc	4	4	16	17	4	0	0	0	0	0	0	1	1	0	1	5	4	3	3	5	4	0	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:29557372T>G	uc001brq.1	-	0	83	c.47A>C	c.(46-48)cAg>cCg	p.Q16P	MECR_uc001brp.1_5'UTR|MECR_uc001brt.1_5'UTR|MECR_uc010ofz.1_Missense_Mutation_p.Q16P	NM_016011	NP_001019903	Q9BV79	MECR_HUMAN	Homo sapiens mitochondrial trans-2-enoyl-CoA reductase (MECR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	16					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		CCCCCGCCACTGCCGGGCGGG	0.692													G	29557372	T	G	29557372	3	3	41	1	0	0	0	0	1	0	0	0	9499	1580	55	5	1114	5	MECR	1	29557372	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		29557372	219693249	1	2437											
FOXJ3	22887	broad.mit.edu	37	chr1	42657151	42657151	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaacgctgcggatgctGcggtaaaccatgcggtcgat	8	8	16	9	5	0	0	0	0	0	0	1	3	0	2	1	5	6	3	1	5	3	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:42657151G>A	uc001che.3	-	10	1486	c.1174C>T	c.(1174-1176)Cag>Tag	p.Q392*	FOXJ3_uc001chf.3_Nonsense_Mutation_p.Q392*|FOXJ3_uc001chh.2_Nonsense_Mutation_p.Q358*|FOXJ3_uc001chg.3_Nonsense_Mutation_p.Q392*	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	392					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGCGGATGCTGCGGTAAACCA	0.592													A	42657151	G	A	42657151	4	1	41	1	0	0	0	0	0	1	0	0	6064	1328	46	2	714	2	FOXJ3	1	42657151	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	13099779	42657151	206593470	2	2438											
ELTD1	64123	broad.mit.edu	37	chr1	79403509	79403509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctatatccgttgaatttGtatcaaactctgtggtcttt	9	18	6	8	1	3	1	1	1	2	0	4	1	4	1	2	1	2	2	2	1	6	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:79403509G>T	uc001diq.4	-	5	899	c.743C>A	c.(742-744)aCa>aAa	p.T248K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	248					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		CGTTGAATTTGTATCAAACTC	0.378													T	79403509	G	T	79403509	3	4	41	1	0	0	0	0	1	0	0	0	5125	1377	48	4	1369	4	ELTD1	1	79403509	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	36746358	79403509	169847112	3	2439											
LCE1F	353137	broad.mit.edu	37	chr1	152749095	152749095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagccaccacagacggcGtaggtcccaccgccacagac	10	3	10	18	3	0	3	0	1	0	2	1	3	1	3	6	2	1	1	6	2	1	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:152749095G>A	uc010pdv.2	+	0	248	c.248G>A	c.(247-249)cGt>cAt	p.R83H		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACAGACGGCGTAGGTCCCAC	0.706													A	152749095	G	A	152749095	3	1	41	1	0	0	0	0	1	0	0	0	8723	1145	40	1	250	1	LCE1F	1	152749095	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	73345586	152749095	96501526	4	2440											
TOMM40L	84134	broad.mit.edu	37	chr1	161198259	161198259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgtgggatcaggcgggGcccatgcaagttactaccac	10	8	13	10	1	1	1	1	1	0	0	1	2	1	2	2	4	3	2	2	4	4	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:161198259G>A	uc001fzd.3	+	7	878	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	TOMM40L_uc010pkl.1_Missense_Mutation_p.A183T|TOMM40L_uc009wue.3_Missense_Mutation_p.A99T|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.A217T	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	217					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			ATCAGGCGGGGCCCATGCAAG	0.488													A	161198259	G	A	161198259	3	1	41	1	0	0	0	0	1	0	0	0	16459	1203	42	2	675	2	TOMM40L	1	161198259	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8449164	161198259	88052362	5	2441											
FMOD	2331	broad.mit.edu	37	chr1	203316988	203316988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggtgatctggttgccGtggagagcaatccagagcag	9	9	14	9	1	2	3	1	1	1	2	3	4	3	3	2	3	3	3	2	3	1	1	rs141206727		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:203316988G>A	uc001gzr.3	-	1	547	c.411C>T	c.(409-411)caC>caT	p.H137H		NM_002023	NP_002014	Q06828	FMOD_HUMAN	Homo sapiens fibromodulin (FMOD), mRNA.	137					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557													A	203316988	G	A	203316988	2	1	41	1	0	0	0	0	0	0	0	1	6008	1136	40	1		1	FMOD	1	203316988	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	42118729	203316988	45933633	6	2442											
CHRM3	1131	broad.mit.edu	37	chr1	240071276	240071276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcacgaggccgctcacGtaccgagccaaacgaacaac	13	4	8	16	5	2	0	2	0	0	0	3	3	3	0	4	1	5	2	4	1	4	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:240071276G>A	uc021plc.1	+	0	525	c.525G>A	c.(523-525)acG>acA	p.T175T	CHRM3_uc001hyp.3_Silent_p.T175T	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	175					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T175M(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	GGCCGCTCACGTACCGAGCCA	0.507													A	240071276	G	A	240071276	2	1	41	1	0	0	0	0	0	0	0	1	3408	1132	40	1		1	CHRM3	1	240071276	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	36754288	240071276	9179345	7	2443											
OR2T3	343173	broad.mit.edu	37	chr1	248637245	248637245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcctgctctgacgtctcCctctataagacgctcatgta	7	13	6	15	2	5	2	1	1	4	1	7	2	5	2	2	0	1	3	2	0	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr1:248637245C>T	uc001iel.1	+	0	594	c.594C>T	c.(592-594)tcC>tcT	p.S198S		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGACGTCTCCCTCTATAAGA	0.522													T	248637245	C	T	248637245	2	4	41	1	0	0	0	0	0	0	0	1	11099	610	22	2		2	OR2T3	1	248637245	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	8565969	248637245	613376	8	2444											
HPCAL1	3241	broad.mit.edu	37	chr2	10560060	10560060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacttcttcccctacggCgacgcttccaagttcgccga	7	9	8	17	5	1	0	0	0	1	0	4	2	3	0	5	1	2	2	5	1	3	5	rs142524922		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:10560060C>T	uc002raj.3	+	2	551	c.177C>T	c.(175-177)ggC>ggT	p.G59G	HPCAL1_uc002ral.3_Silent_p.G59G|HPCAL1_uc010exe.3_Non-coding_Transcript|HPCAL1_uc010exf.3_Silent_p.G59G	NM_002149	NP_602293	P37235	HPCL1_HUMAN	Homo sapiens hippocalcin-like 1 (HPCAL1), transcript variant 1, mRNA.	59							calcium ion binding	p.G59S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		TCCCCTACGGCGACGCTTCCA	0.602													T	10560060	C	T	10560060	2	4	41	1	0	0	0	0	0	0	0	1	7385	755	27	1		1	HPCAL1	2	10560060	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08		10560060	232639313	9	2445											
IWS1	55677	broad.mit.edu	37	chr2	128262546	128262547	+	Frame_Shift_Ins	INS	-	-	G																															cagtttctgagtcactggcaINSggccccttctgaggcccctc																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:128262546_128262547insG	uc002ton.2	-	2	1235_1236	c.932_933insC	c.(931-933)cctfs	p.P311fs	IWS1_uc010yzl.1_Non-coding_Transcript|BC022892_uc002too.1_5'Flank|IWS1_uc010fma.2_Non-coding_Transcript	NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	311	Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCAGGCCCCTTCTG	0.54													G	128262547	-	G	128262546	7	5	41	1	0	1	1	0	0	0	0	0	7989	175	7	0	1574	0	IWS1	2	128262546	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08	117702486	128262546	114936827	10	2446											
FAM123C	205147	broad.mit.edu	37	chr2	131521170	131521170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatcaccatgggcatcGtcagctggctgcgccgaggc	6	7	13	15	4	2	0	2	0	0	0	4	1	2	0	3	3	2	3	3	3	0	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:131521170G>A	uc021voy.1	+	0	1525	c.1525G>A	c.(1525-1527)Gtc>Atc	p.V509I	FAM123C_uc002trw.2_Missense_Mutation_p.V509I|FAM123C_uc010fmv.2_Missense_Mutation_p.V509I|FAM123C_uc010fms.1_Missense_Mutation_p.V509I|FAM123C_uc010fmt.1_Missense_Mutation_p.V509I|FAM123C_uc010fmu.1_Missense_Mutation_p.V509I	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	509										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CATGGGCATCGTCAGCTGGCT	0.677													A	131521170	G	A	131521170	3	1	41	1	0	0	0	0	1	0	0	0	5469	1145	40	1	1527	1	FAM123C	2	131521170	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	3258624	131521170	111678203	11	2447											
HECW2	57520	broad.mit.edu	37	chr2	197183877	197183877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaagtccctgtgtctgcGccacttgtgggctgatctac	5	12	12	12	2	2	1	0	1	2	0	4	2	3	2	2	2	2	1	2	2	2	2	rs111271189	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:197183877G>A	uc002utm.1	-	8	1920	c.1737C>T	c.(1735-1737)ggC>ggT	p.G579G	HECW2_uc002utl.1_Silent_p.G223G	NM_020760	NP_065811	Q9P2P5	HECW2_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2 (HECW2), mRNA.	579					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTGTCTGCGCCACTTGTGG	0.607													A	197183877	G	A	197183877	2	1	41	1	0	0	0	0	0	0	0	1	7098	1074	38	1		1	HECW2	2	197183877	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	65662707	197183877	46015496	12	2448											
ALS2CR12	130540	broad.mit.edu	37	chr2	202154207	202154207	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgttctcttccgtcaggAtctgtatggtgtgcttatac	7	16	10	8	1	3	0	1	0	2	0	5	2	4	1	1	2	2	3	1	2	4	5			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:202154207A>C	uc010ftg.3	-	13	1628	c.1184T>G	c.(1183-1185)aTc>aGc	p.I395S	ALS2CR12_uc002uya.4_Missense_Mutation_p.I372S|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	395					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TTCCGTCAGGATCTGTATGGT	0.413													C	202154207	A	C	202154207	3	2	41	1	0	0	0	0	1	0	0	0	553	333	12	5	161	5	ALS2CR12	2	202154207	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4970330	202154207	41045166	13	2449											
TRPM8	79054	broad.mit.edu	37	chr2	234869620	234869620	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataatgatgccctcctCacgtttgtctggaaactggt	8	14	8	11	1	2	1	1	1	1	0	4	2	4	2	3	2	2	1	3	2	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr2:234869620C>A	uc002vvh.3	+	11	1603	c.1563C>A	c.(1561-1563)ctC>ctA	p.L521L	TRPM8_uc010fyj.3_Silent_p.L209L	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	521						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGCCCTCCTCACGTTTGTCT	0.507													A	234869620	C	A	234869620	2	1	41	1	0	0	0	0	0	0	0	1	16693	813	29	4		4	TRPM8	2	234869620	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	32715413	234869620	8329753	14	2450											
GOLGA4	2803	broad.mit.edu	37	chr3	37369037	37369037	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgaaaaattacaggcttTacaacagatggatggaagaa	19	9	9	4	0	0	3	0	1	0	2	0	5	0	5	0	3	3	1	0	3	8	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:37369037T>G	uc003cgv.3	+	13	6020	c.5660T>G	c.(5659-5661)tTa>tGa	p.L1887*	GOLGA4_uc010hgr.2_Nonsense_Mutation_p.L1448*|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.L1909*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.L1768*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1887	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TTACAGGCTTTACAACAGATG	0.353													G	37369037	T	G	37369037	4	3	41	1	0	0	0	0	0	1	0	0	6611	1764	61	5	5784	5	GOLGA4	3	37369037	Nonsense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		37369037	160653393	15	2451											
ATP13A4	84239	broad.mit.edu	37	chr3	193160209	193160209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatacataatgtgtttcttCtcttctactaacgtccaaga	11	15	4	11	1	3	1	0	0	3	1	5	1	4	1	2	0	3	1	2	0	5	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr3:193160209C>T	uc003ftd.3	-	18	2397	c.2289G>A	c.(2287-2289)gaG>gaA	p.E763E	ATP13A4_uc003fte.1_Silent_p.E763E|ATP13A4_uc011bsr.1_Silent_p.E234E|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	763					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TGTGTTTCTTCTCTTCTACTA	0.433													T	193160209	C	T	193160209	2	4	41	1	0	0	0	0	0	0	0	1	1131	912	32	2		2	ATP13A4	3	193160209	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	155791172	193160209	4862221	16	2452											
TMEM174	134288	broad.mit.edu	37	chr5	72469988	72469988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaatatactctctccctcGctagaggctattctgatata	12	13	6	10	1	2	3	0	1	2	2	5	3	3	3	1	1	1	2	1	1	7	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:72469988G>A	uc010izc.3	+	1	776	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	243						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TCTCTCCCTCGCTAGAGGCTA	0.478													A	72469988	G	A	72469988	3	1	41	1	0	0	0	0	1	0	0	0	16190	1087	38	1	734	1	TMEM174	5	72469988	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		72469988	108445272	17	2453											
PCDHGC5	8641	broad.mit.edu	37	chr5	140768990	140768990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggagagcggggtggtgttCgcgcagcgcgccttcgacca	5	6	18	12	7	0	1	0	0	0	1	2	3	0	1	2	4	2	2	2	4	0	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:140768990C>T	uc003lkc.2	+	0	1539	c.1539C>T	c.(1537-1539)ttC>ttT	p.F513F	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGTGTTCGCGCAGCGCG	0.667													T	140768990	C	T	140768990	2	4	41	1	0	0	0	0	0	0	0	1	11647	883	31	1		1	PCDHGC5	5	140768990	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	68299002	140768990	40146270	18	2454											
WWC1	23286	broad.mit.edu	37	chr5	167868746	167868746	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggagaggtcgactcgctgGtacaaccttctcagctacaa	10	8	12	11	2	1	1	1	0	1	1	4	3	1	1	1	4	4	3	1	4	4	3	rs148699341		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr5:167868746G>A	uc003lzu.3	+	15	2433	c.2340G>A	c.(2338-2340)tgG>tgA	p.W780*	WWC1_uc003lzv.3_Nonsense_Mutation_p.W780*|WWC1_uc011den.2_Nonsense_Mutation_p.W780*|WWC1_uc003lzw.3_Nonsense_Mutation_p.W579*|WWC1_uc010jjf.1_Nonsense_Mutation_p.W47*	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	780	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity	p.W780*(1)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		CGACTCGCTGGTACAACCTTC	0.602													A	167868746	G	A	167868746	4	1	41	1	0	0	0	0	0	1	0	0	17513	1270	44	2	2402	2	WWC1	5	167868746	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	27099756	167868746	13046514	19	2455											
OR2B2	81697	broad.mit.edu	37	chr6	27879956	27879956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaatccacatgtgacaCaagaattattgtcagattgc	14	13	7	7	0	1	4	1	2	0	2	2	4	2	4	1	0	1	0	1	0	4	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:27879956C>T	uc011dkw.2	-	0	219	c.142G>A	c.(142-144)Gtg>Atg	p.V48M		NM_033057	NP_149046	Q9GZK3	OR2B2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 2 (OR2B2), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V48E(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ACATGTGACACAAGAATTATT	0.388													T	27879956	C	T	27879956	3	4	41	1	0	0	0	0	1	0	0	0	11065	478	17	2	935	2	OR2B2	6	27879956	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		27879956	143235111	20	2456											
MAS1L	116511	broad.mit.edu	37	chr6	29455605	29455605	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagacaaaggctacatgaGagagatatctgtgactcagc	14	8	12	7	0	2	4	1	2	1	3	2	7	2	4	0	2	2	1	0	2	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29455605G>C	uc011dlq.2	-	0	75	c.75C>G	c.(73-75)ctC>ctG	p.L25L		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	25						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						GGCTACATGAGAGAGATATCT	0.522													C	29455605	G	C	29455605	2	2	41	1	0	0	0	0	0	0	0	1	9396	929	33	4		4	MAS1L	6	29455605	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	1575649	29455605	141659462	21	2457											
HLA-F	3134	broad.mit.edu	37	chr6	29691648	29691648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgccaaggccaacgcacAgactgaccgagtggccctga	11	4	12	14	3	0	3	0	2	0	1	0	4	0	3	4	2	2	2	4	2	3	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:29691648A>G	uc003nno.4	+	1	402	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	HLA-F_uc010jrl.3_Missense_Mutation_p.Q93R|HLA-F_uc003nnm.4_Missense_Mutation_p.Q93R|HLA-F_uc011dlx.1_Missense_Mutation_p.Q93R|HLA-F_uc011dly.1_Non-coding_Transcript	NM_001098479	NP_001091949	P30511	HLAF_HUMAN	Homo sapiens major histocompatibility complex, class I, F (HLA-F), transcript variant 1, mRNA.	93	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GCCAACGCACAGACTGACCGA	0.682													G	29691648	A	G	29691648	3	3	41	1	0	0	0	0	1	0	0	0	7266	188	7	3	284	3	HLA-F	6	29691648	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	236043	29691648	141423419	22	2458											
AGPAT1	10554	broad.mit.edu	37	chr6	32139093	32139093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgttctcgacgttgcGtcctcgcacggcacacacag	7	10	9	15	5	2	0	1	0	1	0	5	1	3	0	1	1	1	4	1	1	0	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:32139093G>A	uc003oae.3	-	1	516	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C	EGFL8_uc003nzy.2_Non-coding_Transcript|AGPAT1_uc011dpk.2_Missense_Mutation_p.T54M|AGPAT1_uc003oag.3_Missense_Mutation_p.T54M|AGPAT1_uc003oah.3_Missense_Mutation_p.R61C|AGPAT1_uc003oai.1_Missense_Mutation_p.R61C|AGPAT1_uc011dpl.2_5'UTR	NM_006411	NP_116130	Q99943	PLCA_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 1 (lysophosphatidic acid acyltransferase, alpha) (AGPAT1), transcript variant 1, mRNA.	61					energy reserve metabolic process|phosphatidic acid biosynthetic process|positive regulation of cellular metabolic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			central_nervous_system(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCGACGTTGCGTCCTCGCACG	0.567													A	32139093	G	A	32139093	3	1	41	1	0	0	0	0	1	0	0	0	386	1145	40	1	694	1	AGPAT1	6	32139093	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	2447445	32139093	138975974	23	2459											
MAPK13	5603	broad.mit.edu	37	chr6	36099124	36099124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagtccgagatcttcGccaagcgcgcctaccgggag	7	8	11	15	5	2	1	1	0	1	1	4	3	3	2	5	1	2	0	5	1	2	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:36099124G>A	uc003ols.3	+	1	294	c.196G>A	c.(196-198)Gcc>Acc	p.A66T	MAPK13_uc003olt.3_Non-coding_Transcript	NM_002754	NP_002745	O15264	MK13_HUMAN	Homo sapiens mitogen-activated protein kinase 13 (MAPK13), mRNA.	66	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						CGAGATCTTCGCCAAGCGCGC	0.662													A	36099124	G	A	36099124	3	1	41	1	0	0	0	0	1	0	0	0	9350	1087	38	1	202	1	MAPK13	6	36099124	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	3960031	36099124	135015943	24	2460											
TDRD6	221400	broad.mit.edu	37	chr6	46659003	46659003	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgccaagtatactgaTggaaactggtataggggcat	11	11	12	7	0	0	1	0	1	0	0	0	2	0	2	2	4	4	3	2	4	6	5			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:46659003T>A	uc003oyj.3	+	0	3392	c.3138T>A	c.(3136-3138)gaT>gaA	p.D1046E	TDRD6_uc010jze.3_Missense_Mutation_p.D1046E	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	1046	Tudor 5.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AGTATACTGATGGAAACTGGT	0.358													A	46659003	T	A	46659003	3	1	41	1	0	0	0	0	1	0	0	0	15834	1461	51	5	3140	5	TDRD6	6	46659003	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	10559879	46659003	124456064	25	2461											
TAAR1	134864	broad.mit.edu	37	chr6	132966960	132966960	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtggccatggaatgaatGagccaatttgttggggtatg	11	11	14	5	0	0	2	0	2	0	0	0	3	0	3	2	4	1	2	2	4	4	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:132966960G>C	uc003qdm.1	-	0	183	c.183C>G	c.(181-183)ctC>ctG	p.L61L		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	61						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	TGGAATGAATGAGCCAATTTG	0.423													C	132966960	G	C	132966960	2	2	41	1	0	0	0	0	0	0	0	1	15586	1277	45	4		4	TAAR1	6	132966960	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	86307957	132966960	38148107	26	2462											
GRM1	2911	broad.mit.edu	37	chr6	146350618	146350618	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgggaccagcgtgggaaCgcggctggcaggctgtggac	7	4	19	11	4	0	0	0	0	0	0	0	3	0	3	1	6	3	3	1	6	1	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:146350618C>T	uc010khw.1	+	1					GRM1_uc010khu.1_5'UTR|GRM1_uc010khv.1_5'UTR|GRM1_uc003qll.2_5'UTR|GRM1_uc011edz.1_5'UTR|GRM1_uc011eea.1_5'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.						synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AGCGTGGGAACGCGGCTGGCA	0.647													T	146350618	C	T	146350618	1	4	41	1	0	0	0	0	0	0	0	0	6851	551	19	1		1	GRM1	6	146350618	Translation_Start_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	13383658	146350618	24764449	27	2463											
SNX9	51429	broad.mit.edu	37	chr6	158331016	158331016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctggttaagtttgggtCagccattccaatcccttctc	6	15	7	13	0	3	0	1	0	2	0	7	0	5	0	4	2	1	2	4	2	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr6:158331016C>T	uc003qqv.1	+	8	1081	c.908C>T	c.(907-909)tCa>tTa	p.S303L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	303	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGTTTGGGTCAGCCATTCCA	0.408													T	158331016	C	T	158331016	3	4	41	1	0	0	0	0	1	0	0	0	15003	838	29	2	942	2	SNX9	6	158331016	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	11980398	158331016	12784051	28	2464											
GPR141	353345	broad.mit.edu	37	chr7	37780793	37780793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaggttgcattttataaCgaaatcttcttgagtgtaac	13	14	8	6	1	2	1	0	1	2	0	2	2	2	1	0	1	4	4	0	1	5	7	rs146749644	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:37780793C>T	uc003tfm.1	+	0	798	c.798C>T	c.(796-798)aaC>aaT	p.N266N	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	266						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.N266K(2)|p.Y265C(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CATTTTATAACGAAATCTTCT	0.383													T	37780793	C	T	37780793	2	4	41	1	0	0	0	0	0	0	0	1	6703	535	19	1		1	GPR141	7	37780793	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08		37780793	121357870	29	2465											
ABCB1	5243	broad.mit.edu	37	chr7	87190658	87190658	+	Frame_Shift_Del	DEL	C	C	-																															ctcttcagctactgctccagCttttgcatacgctaagagtt																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:87190658delC	uc003uiz.2	-	8	1241	c.748delG	c.(748-750)gctfs	p.A250fs	ABCB1_uc011khc.2_Frame_Shift_Del_p.A186fs	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	250	ABC transmembrane type-1 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	p.A250T(2)|p.K249E(1)		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)	ACTGCTCCAGCTTTTGCATAC	0.318													-	87190658	C	-	87190658	7	5	41	1	0	1	0	1	0	0	0	0	40	797	28	0	3178	0	ABCB1	7	87190658	Frame_Shift_Del	DEL	C	TCGA-06-0192-01B-01W-0348-08	49409865	87190658	71948005	30	2466											
HIPK2	28996	broad.mit.edu	37	chr7	139316027	139316027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgtttgtgaaatataccGaatctgcaagaaaagataag	16	11	9	5	1	1	3	0	1	1	2	1	4	1	3	1	0	2	2	1	0	8	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:139316027G>A	uc003vvf.4	-	3	1502	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	HIPK2_uc003vvd.4_Missense_Mutation_p.R411W	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	411	Interaction with DAXX.|Protein kinase.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	p.R411Q(1)		breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GAAATATACCGAATCTGCAAG	0.408													A	139316027	G	A	139316027	3	1	41	1	0	0	0	0	1	0	0	0	7172	1057	37	1	2413	1	HIPK2	7	139316027	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	52125369	139316027	19822636	31	2467											
KEL	3792	broad.mit.edu	37	chr7	142658446	142658446	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctgggatcttgcttaCgagggccacagttctggaag	7	10	16	8	1	3	0	0	0	3	0	3	3	3	2	1	5	2	2	1	5	2	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr7:142658446C>T	uc003wcb.3	-	3	433	c.223_splice	c.e3+1	p.R75_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	75					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTTGCTTACGAGGGCCACA	0.602													T	142658446	C	T	142658446	5	4	41	1	0	0	0	0	0	0	1	0	8200	550	19	1	2042	1	KEL	7	142658446	Splice_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	3342419	142658446	16480217	32	2468											
PCM1	5108	broad.mit.edu	37	chr8	17872225	17872226	+	Frame_Shift_Ins	INS	-	-	A																															cagcctaaccctttgccgttINSacgtttacctgaaatggaac																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr8:17872225_17872226insA	uc022asj.1	+	34	5856_5857	c.5834_5835insA	c.(5833-5835)ttafs	p.L1945fs	PCM1_uc003wyi.4_Frame_Shift_Ins_p.L1906fs|PCM1_uc011kyh.2_Frame_Shift_Ins_p.L1898fs|PCM1_uc003wyj.4_Intron|PCM1_uc011kyi.2_Frame_Shift_Ins_p.L705fs|PCM1_uc011kyj.2_Frame_Shift_Ins_p.L662fs|PCM1_uc003wyk.4_Frame_Shift_Ins_p.L588fs|PCM1_uc011kyk.2_Frame_Shift_Ins_p.L522fs	NM_006197	NP_006188	Q15154	PCM1_HUMAN	Homo sapiens pericentriolar material 1 (PCM1), mRNA.	1906	Interaction with BBS4.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		CCTTTGCCGTTACGTTTACCTG	0.436			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								A	17872226	-	A	17872225	7	5	41	1	0	1	1	0	0	0	0	0	11660	1764	61	0	5851	0	PCM1	8	17872225	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08		17872225	128491797	33	2469											
PRUNE2	158471	broad.mit.edu	37	chr9	79322930	79322930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgcaggttatctgcGgacatccctgtttgcacatc	6	14	10	11	1	1	0	0	0	1	0	3	1	2	1	1	3	3	5	1	3	1	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr9:79322930G>A	uc010mpk.3	-	7	4384	c.4260C>T	c.(4258-4260)tcC>tcT	p.S1420S	PRUNE2_uc022bih.1_Silent_p.S1242S	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1420					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity	p.S1420S(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGTTATCTGCGGACATCCCTG	0.443													A	79322930	G	A	79322930	2	1	41	1	0	0	0	0	0	0	0	1	12726	1103	39	1		1	PRUNE2	9	79322930	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08		79322930	61890501	34	2470											
KLF6	1316	broad.mit.edu	37	chr10	3827115	3827115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgtttacctgttgccagTactcctccagagacggcagc	7	10	10	14	2	0	1	0	0	0	1	2	2	2	1	4	1	5	4	4	1	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:3827115T>C	uc001iha.3	-	0	359	c.92A>G	c.(91-93)tAc>tGc	p.Y31C	KLF6_uc010qaj.2_Missense_Mutation_p.Y31C|KLF6_uc010qak.2_Non-coding_Transcript|KLF6_uc010qal.2_Missense_Mutation_p.Y31C|KLF6_uc001ihb.2_Missense_Mutation_p.Y31C	NM_001300	NP_001291	Q99612	KLF6_HUMAN	Homo sapiens Kruppel-like factor 6 (KLF6), transcript variant A, mRNA.	31					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		CTGTTGCCAGTACTCCTCCAG	0.687													C	3827115	T	C	3827115	3	2	41	1	0	0	0	0	1	0	0	0	8408	1638	57	3	775	3	KLF6	10	3827115	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		3827115	131707632	35	2471											
FAM21C	253725	broad.mit.edu	37	chr10	46265058	46265058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatctttttgccattgcCaaggacaggtgagatagtca	11	12	11	7	0	2	2	1	2	1	1	2	5	2	3	2	2	2	0	2	2	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:46265058C>T	uc001jcu.3	+	19	2149	c.2031C>T	c.(2029-2031)gcC>gcT	p.A677A	FAM21C_uc001jcs.2_Silent_p.A620A|FAM21C_uc010qfk.2_Silent_p.A677A|FAM21C_uc010qfi.2_Silent_p.A653A|FAM21C_uc010qfj.2_5'UTR	NM_015262	NP_056077	A8K5W5	A8K5W5_HUMAN	Homo sapiens family with sequence similarity 21, member C (FAM21C), transcript variant 1, mRNA.	677										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGCCATTGCCAAGGACAGGT	0.478													T	46265058	C	T	46265058	2	4	41	1	0	0	0	0	0	0	0	1	5589	581	21	2		2	FAM21C	10	46265058	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	42437943	46265058	89269689	36	2472											
PTEN	5728	broad.mit.edu	37	chr10	89720794	89720794	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagataatgacaaggaataTctagtacttactttaacaaa	18	11	6	6	0	1	2	0	1	1	1	1	3	1	3	0	1	3	2	0	1	9	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr10:89720794T>A	uc001kfb.3	+	7	1977	c.945T>A	c.(943-945)taT>taA	p.Y315*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	315	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.E314fs*3(3)|p.Y315fs*9(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.E314*(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.E314K(1)|p.L316fs*2(1)|p.E314fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACAAGGAATATCTAGTACTTA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720794	T	A	89720794	4	1	41	1	0	0	0	0	0	1	0	0	12823	1442	50	5	975	5	PTEN	10	89720794	Nonsense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	43455736	89720794	45813953	37	2473											
TPP1	1200	broad.mit.edu	37	chr11	6637552	6637552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggaggtcacctgaggCgaagagcagggtgagacccc	10	4	18	9	1	1	3	1	2	0	2	1	6	1	4	3	5	1	2	3	5	2	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:6637552C>T	uc001mel.1	-	7	1130	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	TPP1_uc001mek.1_Missense_Mutation_p.A114T	NM_000391	NP_000382	O14773	TPP1_HUMAN	Homo sapiens tripeptidyl peptidase I (TPP1), mRNA.	357					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		TCACCTGAGGCGAAGAGCAGG	0.567													T	6637552	C	T	6637552	3	4	41	1	0	0	0	0	1	0	0	0	16512	768	27	1	646	1	TPP1	11	6637552	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		6637552	128368964	38	2474											
CTR9	9646	broad.mit.edu	37	chr11	10774300	10774300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacacacacaactgcacAtatggattgctttggcggtc	12	9	10	10	1	0	0	0	0	0	0	1	2	0	2	0	4	4	2	0	4	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:10774300A>G	uc001mja.3	+	1	276	c.127A>G	c.(127-129)Ata>Gta	p.I43V		NM_014633	NP_055448	Q6PD62	CTR9_HUMAN	Homo sapiens Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CTR9), mRNA.	43					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		ACAACTGCACATATGGATTGC	0.363													G	10774300	A	G	10774300	3	3	41	1	0	0	0	0	1	0	0	0	4057	217	8	3	133	3	CTR9	11	10774300	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4136748	10774300	124232216	39	2475											
LUZP2	338645	broad.mit.edu	37	chr11	24936063	24936063	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgaaggagcttcgttatggGaagaaggatttattatttaa	13	14	11	3	1	0	2	0	1	0	1	1	5	0	5	0	3	1	2	0	3	7	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:24936063G>C	uc001mqs.3	+	6	775	c.501G>C	c.(499-501)ggG>ggC	p.G167G	LUZP2_uc009yif.3_Silent_p.G81G|LUZP2_uc009yig.3_Intron	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	167	Leucine-zipper.					extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						TTCGTTATGGGAAGAAGGATT	0.318													C	24936063	G	C	24936063	2	2	41	1	0	0	0	0	0	0	0	1	9157	1161	41	4		4	LUZP2	11	24936063	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	14161763	24936063	110070453	40	2476											
LRP4	4038	broad.mit.edu	37	chr11	46880714	46880714	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctggatggacaccgtGtctgtcttcatgcatacatg	7	12	11	11	1	3	0	1	0	2	0	3	2	3	2	2	3	2	1	2	3	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:46880714G>A	uc001ndn.4	-	37	5781	c.5538C>T	c.(5536-5538)gaC>gaT	p.D1846D	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Silent_p.D88D	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1846					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGGACACCGTGTCTGTCTTCA	0.582													A	46880714	G	A	46880714	2	1	41	1	0	0	0	0	0	0	0	1	9029	1368	48	2		2	LRP4	11	46880714	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	21944651	46880714	88125802	41	2477											
OR5F1	338674	broad.mit.edu	37	chr11	55761167	55761167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccaaacaatcacagaaagGaagaggtccttttcctgcta	15	8	8	10	0	1	2	1	0	0	2	3	3	3	3	3	2	3	1	3	2	5	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:55761167G>A	uc010riv.2	-	0	935	c.935C>T	c.(934-936)tCc>tTc	p.S312F		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	312					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					TCACAGAAAGGAAGAGGTCCT	0.338													A	55761167	G	A	55761167	3	1	41	1	0	0	0	0	1	0	0	0	11234	1174	41	2	12	2	OR5F1	11	55761167	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8880453	55761167	79245349	42	2478											
OR9G9	504191	broad.mit.edu	37	chr11	56468297	56468297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgtgcattgctggtagCagtctcatattgtggtggct	5	15	14	7	0	1	0	1	0	1	0	2	0	1	0	0	3	3	6	0	3	2	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:56468297C>A	uc010rjn.2	+	0	434	c.434C>A	c.(433-435)gCa>gAa	p.A145E	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TTGCTGGTAGCAGTCTCATAT	0.463													A	56468297	C	A	56468297	3	1	41	1	0	0	0	0	1	0	0	0	11328	710	25	4	436	4	OR9G9	11	56468297	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	707130	56468297	78538219	43	2479											
DPF2	5977	broad.mit.edu	37	chr11	65107936	65107936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctgagcgcagcgtgcGcctgcctttcttggactcac	4	11	12	14	3	2	1	1	1	1	0	2	2	2	2	2	1	5	2	2	1	0	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:65107936G>A	uc001odm.3	+	1	246	c.113G>A	c.(112-114)cGc>cAc	p.R38H	DPF2_uc010roe.2_Missense_Mutation_p.R38H	NM_006268	NP_006259	Q92785	REQU_HUMAN	Homo sapiens D4, zinc and double PHD fingers family 2 (DPF2), mRNA.	38					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						CGCAGCGTGCGCCTGCCTTTC	0.552													A	65107936	G	A	65107936	3	1	41	1	0	0	0	0	1	0	0	0	4756	1087	38	1	119	1	DPF2	11	65107936	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	8639639	65107936	69898580	44	2480											
PGR	5241	broad.mit.edu	37	chr11	100999454	100999454	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagggcgccaacagagtGtccaagacactgtccagcag	11	5	12	13	1	0	3	0	1	0	2	2	3	2	3	4	1	2	1	4	1	2	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:100999454G>C	uc001pgh.2	-	0	1091	c.348C>G	c.(346-348)gaC>gaG	p.D116E	PGR_uc001pgi.2_Missense_Mutation_p.D116E|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	116	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCAACAGAGTGTCCAAGACAC	0.622													C	100999454	G	C	100999454	3	2	41	1	0	0	0	0	1	0	0	0	11882	1368	48	4	2485	4	PGR	11	100999454	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	35891518	100999454	34007062	45	2481											
DDI1	414301	broad.mit.edu	37	chr11	103908056	103908056	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaccctcccttggcggAagccctgctcagcggaagcc	8	5	11	17	3	1	0	1	0	0	0	2	2	2	2	4	3	5	2	4	3	3	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:103908056A>C	uc001phr.2	+	0	749	c.506A>C	c.(505-507)gAa>gCa	p.E169A	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	169					proteolysis		aspartic-type endopeptidase activity	p.E169D(1)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCCTTGGCGGAAGCCCTGCTC	0.602													C	103908056	A	C	103908056	3	2	41	1	0	0	0	0	1	0	0	0	4362	246	9	5	508	5	DDI1	11	103908056	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	2908602	103908056	31098460	46	2482											
SPATA19	219938	broad.mit.edu	37	chr11	133711992	133711992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgagacatctgtaagaCgggatatgctgcaggggaca	12	7	15	7	1	1	2	0	1	1	2	1	6	1	4	0	3	3	4	0	3	2	2	rs140608295		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr11:133711992C>T	uc001qgv.1	-	5	497	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_174927	NP_777587	Q7Z5L4	SPT19_HUMAN	Homo sapiens spermatogenesis associated 19 (SPATA19), mRNA.	149					cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		ATCTGTAAGACGGGATATGCT	0.602													T	133711992	C	T	133711992	3	4	41	1	0	0	0	0	1	0	0	0	15100	536	19	1	61	1	SPATA19	11	133711992	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	29803936	133711992	1294524	47	2483											
CLEC1A	51267	broad.mit.edu	37	chr12	10241786	10241786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaagtcagcagggtcagggCcactggtcgccacgttgaag	10	6	14	11	2	2	1	2	1	0	0	3	1	2	1	2	3	1	2	2	3	2	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:10241786C>T	uc001qxb.3	-	1	235	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CLEC1A_uc001qxd.3_Intron|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	51					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AGGGTCAGGGCCACTGGTCGC	0.547													T	10241786	C	T	10241786	3	4	41	1	0	0	0	0	1	0	0	0	3536	739	26	2	711	2	CLEC1A	12	10241786	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		10241786	123610109	48	2484											
SLCO1B3	338821	broad.mit.edu	37	chr12	21168708	21168708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaattgatggaagcttcGaaataggtagctttttattt	11	18	9	3	1	0	1	0	1	0	0	1	3	0	2	0	2	2	4	0	2	6	10			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:21168708G>A	uc010sil.2	+						SLCO1B3_uc010sim.2_Intron|SLCO1B3_uc010sin.2_Missense_Mutation_p.E27K			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	p.E27K(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGAAGCTTCGAAATAGGTAG	0.308													A	21168708	G	A	21168708	3	1	41	1	0	0	0	0	1	0	0	0	14818	1059	37	1		1	SLCO1B3	12	21168708	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	10926922	21168708	112683187	49	2485											
ABCC9	10060	broad.mit.edu	37	chr12	22005399	22005399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcccctcctgcattaaaTgatcactcaagtgaatgtcc	13	11	5	12	0	2	2	2	2	0	0	5	2	5	2	4	0	1	1	4	0	5	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:22005399T>C	uc001rfh.3	-	20	2566	c.2546A>G	c.(2545-2547)cAt>cGt	p.H849R	ABCC9_uc001rfi.1_Missense_Mutation_p.H849R	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	849	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGCATTAAATGATCACTCAA	0.403													C	22005399	T	C	22005399	3	2	41	1	0	0	0	0	1	0	0	0	59	1464	51	3	2317	3	ABCC9	12	22005399	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	836691	22005399	111846496	50	2486											
ARNTL2	56938	broad.mit.edu	37	chr12	27521311	27521311	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatgacagagtttccaCgaaaacgcaaaggaagtgat	17	6	9	9	2	0	3	0	2	0	1	1	5	1	4	1	1	1	2	1	1	4	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:27521311C>T	uc001rht.2	+	1	367	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ARNTL2_uc001rhu.2_Nonsense_Mutation_p.R50*|ARNTL2_uc001rhv.2_Nonsense_Mutation_p.R50*|ARNTL2_uc001rhw.3_Nonsense_Mutation_p.R61*|ARNTL2_uc010sjp.2_Nonsense_Mutation_p.R61*|ARNTL2_uc009zji.2_Nonsense_Mutation_p.R50*	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	50					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.R50*(2)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					AGAGTTTCCACGAAAACGCAA	0.483													T	27521311	C	T	27521311	4	4	41	1	0	0	0	0	0	1	0	0	973	528	19	1	154	1	ARNTL2	12	27521311	Nonsense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	5515912	27521311	106330584	51	2487											
ASB8	140461	broad.mit.edu	37	chr12	48543629	48543629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcacacactcagcattGttcttaaaggctgcccagtg	9	9	9	14	1	2	0	1	0	1	0	2	0	2	0	2	1	2	4	2	1	2	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:48543629G>T	uc001rrh.3	-	3	556	c.387C>A	c.(385-387)aaC>aaA	p.N129K	ASB8_uc010slr.2_Missense_Mutation_p.N129K	NM_024095	NP_077000	Q9H765	ASB8_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 8 (ASB8), mRNA.	129					intracellular signal transduction	cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(5)|soft_tissue(1)	11						ACTCAGCATTGTTCTTAAAGG	0.527													T	48543629	G	T	48543629	3	4	41	1	0	0	0	0	1	0	0	0	1034	1368	48	4	483	4	ASB8	12	48543629	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	21022318	48543629	85308266	52	2488											
SMARCC2	6601	broad.mit.edu	37	chr12	56563342	56563342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcggcggcggccagggCggcggcagcagcggtggaga	6	2	21	12	6	0	1	0	0	0	1	0	2	0	1	1	8	3	2	1	8	0	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:56563342C>T	uc001skb.3	-	23	2699	c.2593G>A	c.(2593-2595)Gcc>Acc	p.A865T	SMARCC2_uc001skd.3_Missense_Mutation_p.A896T|SMARCC2_uc001ska.3_Missense_Mutation_p.A896T|SMARCC2_uc001skc.3_Missense_Mutation_p.A895T|SMARCC2_uc010sqf.2_Missense_Mutation_p.A785T	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	865	Poly-Ala.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			gcggccagggcggcggcagca	0.572													T	56563342	C	T	56563342	3	4	41	1	0	0	0	0	1	0	0	0	14870	768	27	1	1071	1	SMARCC2	12	56563342	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	8019713	56563342	77288553	53	2489											
FGD6	55785	broad.mit.edu	37	chr12	95603382	95603382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggcttttctgaagcccGtttaggcatatcaaaggagg	10	11	11	9	1	2	1	1	1	1	0	2	2	2	2	1	4	1	3	1	4	4	5	rs149076340	byFrequency	TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:95603382G>A	uc001tdp.4	-	1	1902	c.1678C>T	c.(1678-1680)Cgg>Tgg	p.R560W	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	560					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TCTGAAGCCCGTTTAGGCATA	0.423													A	95603382	G	A	95603382	3	1	41	1	0	0	0	0	1	0	0	0	5886	1144	40	1	2694	1	FGD6	12	95603382	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	39040040	95603382	38248513	54	2490											
CDK17	5128	broad.mit.edu	37	chr12	96688901	96688901	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatttggtacagaaacagCtacagaaacaaataaataaa	23	7	6	5	0	0	3	0	0	0	3	0	3	0	3	0	1	5	2	0	1	10	5			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr12:96688901C>G	uc001tep.2	-	10	1506	c.874_splice	c.e10-1	p.L292_splice	CDK17_uc009ztk.3_Splice_Site_p.L292_splice|CDK17_uc010svb.2_Splice_Site_p.L239_splice	NM_002595	NP_002586	Q00537	CDK17_HUMAN	Homo sapiens cyclin-dependent kinase 17 (CDK17), transcript variant 1, mRNA.	292	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						ACAGAAACAGCTACAGAAACA	0.358													G	96688901	C	G	96688901	5	3	41	1	0	0	0	0	0	0	1	0	3163	811	28	4	768	4	CDK17	12	96688901	Splice_Site	SNP	C	TCGA-06-0192-01B-01W-0348-08	1085519	96688901	37162994	55	2491											
ZIC2	7546	broad.mit.edu	37	chr13	100634942	100634942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgacccctactcggcggcGcaactccacaaccagtacgg	10	4	9	18	5	0	0	0	0	0	0	2	1	1	0	5	3	4	2	5	3	4	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr13:100634942G>A	uc001von.3	+	0	917	c.624G>A	c.(622-624)gcG>gcA	p.A208A		NM_007129	NP_009060	O95409	ZIC2_HUMAN	Homo sapiens Zic family member 2 (ZIC2), mRNA.	208	Necessary for interaction with MDFIC and transcriptional activation or repression (By similarity).				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					ACTCGGCGGCGCAACTCCACA	0.677													A	100634942	G	A	100634942	2	1	41	1	0	0	0	0	0	0	0	1	17780	1074	38	1		1	ZIC2	13	100634942	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08		100634942	14534936	56	2492											
MDGA2	161357	broad.mit.edu	37	chr14	47530541	47530541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacgtcccaaaatccGtgaattttaaatcaatgatg	14	13	7	7	2	1	2	1	2	0	0	3	2	3	2	2	0	1	1	2	0	7	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr14:47530541G>A	uc001wwj.4	-	6	1594	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M	MDGA2_uc001wwi.4_Missense_Mutation_p.T181M|MDGA2_uc010ani.3_5'UTR	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	410	Ig-like 5.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane		p.T181K(4)|p.T479K(2)		breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAAAATCCGTGAATTTTAA	0.428													A	47530541	G	A	47530541	3	1	41	1	0	0	0	0	1	0	0	0	9482	1145	40	1	1685	1	MDGA2	14	47530541	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		47530541	59818999	57	2493											
OR4N4	283694	broad.mit.edu	37	chr15	22382513	22382513	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtgacagaatttatccTccttggtctgactcagtctc	9	14	8	10	0	3	3	1	2	2	1	6	3	5	3	2	1	0	1	2	1	3	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:22382513T>A	uc001yuc.1	+	6	1022	c.41T>A	c.(40-42)cTc>cAc	p.L14H	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Non-coding_Transcript|OR4N4_uc010tzv.2_Missense_Mutation_p.L14H	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I13I(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GAATTTATCCTCCTTGGTCTG	0.343													A	22382513	T	A	22382513	3	1	41	1	0	0	0	0	1	0	0	0	11154	1551	54	5	43	5	OR4N4	15	22382513	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		22382513	80148879	58	2494											
GABRB3	2562	broad.mit.edu	37	chr15	26812854	26812854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgttcctcttcaaccgaaAgctcagtgacagtcgaggat	12	10	9	10	2	3	1	2	1	1	0	5	4	4	2	2	1	2	2	2	1	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:26812854A>G	uc001zbb.3	-	7	980	c.877T>C	c.(877-879)Ttt>Ctt	p.F293L	GABRB3_uc021sgg.1_Missense_Mutation_p.F166L|GABRB3_uc021sgh.1_Missense_Mutation_p.F152L|GABRB3_uc001zaz.3_Missense_Mutation_p.F237L|GABRB3_uc001zba.3_Missense_Mutation_p.F237L	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	237					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.H292Q(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTCAACCGAAAGCTCAGTGAC	0.418													G	26812854	A	G	26812854	3	3	41	1	0	0	0	0	1	0	0	0	6220	72	3	3	724	3	GABRB3	15	26812854	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	4430341	26812854	75718538	59	2495											
TTBK2	146057	broad.mit.edu	37	chr15	43038437	43038437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggagttactactccctagGactttatatctgcgtagcct	8	14	8	11	2	1	0	0	0	1	0	3	2	2	2	2	2	4	2	2	2	6	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:43038437G>A	uc001zqo.2	-	14	3730	c.3291C>T	c.(3289-3291)gtC>gtT	p.V1097V	TTBK2_uc010bcy.2_Silent_p.V1028V|DQ586540_uc001zqn.2_5'Flank	NM_173500	NP_775771	Q6IQ55	TTBK2_HUMAN	Homo sapiens tau tubulin kinase 2 (TTBK2), mRNA.	1097			V -> A (in dbSNP:rs55796513).		cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TACTCCCTAGGACTTTATATC	0.393													A	43038437	G	A	43038437	2	1	41	1	0	0	0	0	0	0	0	1	16779	1161	41	2		2	TTBK2	15	43038437	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	16225583	43038437	59492955	60	2496											
USP50	373509	broad.mit.edu	37	chr15	50838708	50838708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatctgcagggagagaCggctgagaagtcattttaat	13	10	12	6	1	3	2	2	1	1	2	3	5	3	3	0	2	1	2	0	2	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr15:50838708C>T	uc021sky.1	-	0	195	c.15G>A	c.(13-15)ccG>ccA	p.P5P	USP50_uc021skx.1_5'Flank	NM_203494	NP_987090	E9PP86	E9PP86_HUMAN	Homo sapiens ubiquitin specific peptidase 50 (USP50), mRNA.	5					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(5)	13				all cancers(107;0.000519)|GBM - Glioblastoma multiforme(94;0.00288)		CAGGGAGAGACGGCTGAGAAG	0.453													T	50838708	C	T	50838708	2	4	41	1	0	0	0	0	0	0	0	1	17184	523	19	1		1	USP50	15	50838708	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	7800271	50838708	51692684	61	2497											
GRIN2A	2903	broad.mit.edu	37	chr16	9858210	9858210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgtggcccgatttgacGtttctgaaatgtcagagtgg	8	11	14	8	3	2	3	1	2	1	1	2	4	2	3	1	3	0	2	1	3	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:9858210G>A	uc010uym.2	-	13	3501	c.3191C>T	c.(3190-3192)aCg>aTg	p.T1064M	GRIN2A_uc002czo.4_Missense_Mutation_p.T1064M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T907M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1064M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1064					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1064T(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCGATTTGACGTTTCTGAAAT	0.507													A	9858210	G	A	9858210	3	1	41	1	0	0	0	0	1	0	0	0	6834	1145	40	1	1207	1	GRIN2A	16	9858210	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		9858210	80496543	62	2498											
HERPUD1	9709	broad.mit.edu	37	chr16	56973164	56973164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataggcctgaagctgcccaGcaggcattccaaggcctggg	9	7	13	12	0	0	1	0	1	0	0	1	1	1	1	4	4	3	3	4	4	4	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:56973164G>A	uc002eke.1	+	4	856	c.447G>A	c.(445-447)caG>caA	p.Q149Q	HERPUD1_uc002ekf.1_Silent_p.Q148Q|HERPUD1_uc002ekg.1_Silent_p.Q124Q|HERPUD1_uc010cco.1_Silent_p.Q210Q|HERPUD1_uc010ccp.1_Intron|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	149						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AAGCTGCCCAGCAGGCATTCC	0.423			T	ERG	prostate								A	56973164	G	A	56973164	2	1	41	1	0	0	0	0	0	0	0	1	7118	962	34	2		2	HERPUD1	16	56973164	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	47114954	56973164	33381589	63	2499											
TAT	6898	broad.mit.edu	37	chr16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatagccccagaagggCggactggccggagtccaggg	9	4	17	11	2	0	1	0	0	0	1	1	3	1	3	4	6	2	1	4	6	3	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr16:71603782C>T	uc002fap.2	-	9	1199	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	367					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCCAGAAGGGCGGACTGGCCG	0.512													T	71603782	C	T	71603782	3	4	41	1	0	0	0	0	1	0	0	0	15687	768	27	1	276	1	TAT	16	71603782	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	14630618	71603782	18750971	64	2500											
NF1	4763	broad.mit.edu	37	chr17	29677208	29677209	+	Frame_Shift_Ins	INS	-	-	A																															ttttccttttagctttacttINSacagtgtctgaagaagttcg																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:29677208_29677209insA	uc002hgg.3	+	49	7712_7713	c.7329_7330insA	c.(7327-7332)cttacafs	p.L2443fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.L2422fs|NF1_uc010cso.3_Frame_Shift_Ins_p.L631fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2443					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGCTTTACTTACAGTGTCTGA	0.356			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29677209	-	A	29677208	7	5	41	1	0	1	1	0	0	0	0	0	10432	1741	61	0	7588	0	NF1	17	29677208	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08		29677208	51518002	65	2501											
MYO1D	4642	broad.mit.edu	37	chr17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtacttactggcttccGttttaccagctccactttcc	7	16	5	13	1	0	0	0	0	0	0	3	0	3	0	4	1	4	4	4	1	4	7			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:31105570G>A	uc002hho.1	-	2	338	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	109	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393													A	31105570	G	A	31105570	3	1	41	1	0	0	0	0	1	0	0	0	10147	1145	40	1	2774	1	MYO1D	17	31105570	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	1428362	31105570	50089640	66	2502											
HOXB13	10481	broad.mit.edu	37	chr17	46804366	46804366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtttcttgcggccgcgaCgaaaggcgcaggcgtcagga	7	7	16	11	7	2	0	1	0	1	0	2	3	2	1	1	4	2	2	1	4	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr17:46804366C>T	uc002ioa.3	-	1	797	c.641G>A	c.(640-642)cGt>cAt	p.R214H	MIR3185_uc021tzl.1_5'Flank	NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	214					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GCGGCCGCGACGAAAGGCGCA	0.622													T	46804366	C	T	46804366	3	4	41	1	0	0	0	0	1	0	0	0	7355	536	19	1	217	1	HOXB13	17	46804366	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	15698796	46804366	34390844	67	2503											
ANKRD30B	374860	broad.mit.edu	37	chr18	14851607	14851607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagtagccacactgaaaCatcaacaccaggtgaaggaa	17	5	10	9	0	1	2	1	2	0	0	1	4	1	4	2	3	3	1	2	3	6	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:14851607C>T	uc010dlo.2	+	35	3487	c.3307C>T	c.(3307-3309)Cat>Tat	p.H1103Y	ANKRD30B_uc021uhy.1_Missense_Mutation_p.H1103Y|ANKRD30B_uc010xal.1_Missense_Mutation_p.H245Y	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	1188										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CACACTGAAACATCAACACCA	0.343													T	14851607	C	T	14851607	3	4	41	1	0	0	0	0	1	0	0	0	659	478	17	2	3449	2	ANKRD30B	18	14851607	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		14851607	63225641	68	2504											
DSG3	1830	broad.mit.edu	37	chr18	29052301	29052301	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggttctactgggggagTgacaggtggttttatcccag	7	11	16	7	0	1	1	0	1	1	0	2	2	2	2	1	6	1	3	1	6	2	4	rs113457225		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr18:29052301T>A	uc002kws.3	+	12	2061	c.1952T>A	c.(1951-1953)gTg>gAg	p.V651E	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	651					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.G650V(2)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ACTGGGGGAGTGACAGGTGGT	0.478													A	29052301	T	A	29052301	3	1	41	1	0	0	0	0	1	0	0	0	4817	1696	59	5	2002	5	DSG3	18	29052301	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08	14200694	29052301	49024947	69	2505											
LPHN1	22859	broad.mit.edu	37	chr19	14261968	14261968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcatagagggagtccCggccaggaggggaggagagg	9	3	21	8	2	0	2	0	0	0	2	1	6	1	5	2	8	0	2	2	8	1	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:14261968C>T	uc010xnn.2	-	23	4438	c.4142G>A	c.(4141-4143)cGg>cAg	p.R1381Q	LPHN1_uc010xno.2_Missense_Mutation_p.R1376Q|LOC100507373_uc002myf.3_Intron	NM_001008701	NP_001008701	O94910	LPHN1_HUMAN	Homo sapiens latrophilin 1 (LPHN1), transcript variant 1, mRNA.	1381					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GAGGGAGTCCCGGCCAGGAGG	0.731													T	14261968	C	T	14261968	3	4	41	1	0	0	0	0	1	0	0	0	8985	652	23	1	286	1	LPHN1	19	14261968	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08		14261968	44867015	70	2506											
CYP4F3	4051	broad.mit.edu	37	chr19	15770048	15770048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaactgcatcgggcaggcGttcgcgatggcggagatgaa	10	6	17	8	5	0	2	0	1	0	1	2	5	0	3	0	5	2	3	0	5	2	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15770048G>A	uc010xok.2	+	12	1466	c.1416G>A	c.(1414-1416)gcG>gcA	p.A472A	CYP4F3_uc010xol.2_Silent_p.A472A|CYP4F3_uc002nbj.3_Silent_p.A472A|CYP4F3_uc010xom.2_Silent_p.A323A|CYP4F3_uc002nbk.3_Silent_p.A472A|CYP4F3_uc010xon.2_Silent_p.A182A	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	472					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						TCGGGCAGGCGTTCGCGATGG	0.672													A	15770048	G	A	15770048	2	1	41	1	0	0	0	0	0	0	0	1	4223	1132	40	1		1	CYP4F3	19	15770048	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	1508080	15770048	43358935	71	2507											
CYP4F2	8529	broad.mit.edu	37	chr19	15989728	15989728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatctccgccatcgcgaaCgtctgcccgatgcagttcct	6	11	8	16	5	3	0	1	0	2	0	6	2	4	0	4	0	3	2	4	0	1	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:15989728C>T	uc002nbs.1	-	12	1466	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	CYP4F2_uc010xot.1_Silent_p.T323T	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	472					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.T472A(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CCATCGCGAACGTCTGCCCGA	0.672													T	15989728	C	T	15989728	2	4	41	1	0	0	0	0	0	0	0	1	4221	523	19	1		1	CYP4F2	19	15989728	Silent	SNP	C	TCGA-06-0192-01B-01W-0348-08	219680	15989728	43139255	72	2508											
ZNF430	80264	broad.mit.edu	37	chr19	21239692	21239692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttataaattttcaaatccaaAtatacaaaagataagacata	22	12	2	5	0	1	2	1	0	0	2	2	2	2	2	1	0	1	0	1	0	11	8			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:21239692A>G	uc002npj.3	+	4	759	c.578A>G	c.(577-579)aAt>aGt	p.N193S	ZNF430_uc002npk.3_Missense_Mutation_p.N192S	NM_025189	NP_079465	Q9H8G1	ZN430_HUMAN	Homo sapiens zinc finger protein 430 (ZNF430), transcript variant 1, mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TCAAATCCAAATATACAAAAG	0.279													G	21239692	A	G	21239692	3	3	41	1	0	0	0	0	1	0	0	0	18005	101	4	3	596	3	ZNF430	19	21239692	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08	5249964	21239692	37889291	73	2509											
IRGC	56269	broad.mit.edu	37	chr19	44223553	44223553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcatccaggccctgccGgtcccagggctggcggccgc	3	5	16	17	4	1	0	1	0	0	0	3	0	3	0	5	6	1	1	5	6	0	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:44223553G>A	uc002oxh.3	+	1	990	c.843G>A	c.(841-843)ccG>ccA	p.P281P	IRGC_uc021uvh.1_Silent_p.P281P	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	281						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGGCCCTGCCGGTCCCAGGGC	0.632													A	44223553	G	A	44223553	2	1	41	1	0	0	0	0	0	0	0	1	7896	1103	39	1		1	IRGC	19	44223553	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	22983861	44223553	14905430	74	2510											
ZNF296	162979	broad.mit.edu	37	chr19	45575604	45575605	+	Frame_Shift_Ins	INS	-	-	G																															aggacaggtggggctccgccINSgggtgaggccgctgccactt																										TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr19:45575604_45575605insG	uc002pao.3	-	2	739_740	c.682_683insC	c.(682-684)cggfs	p.R228fs		NM_145288	NP_660331	Q8WUU4	ZN296_HUMAN	Homo sapiens zinc finger protein 296 (ZNF296), mRNA.	228					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|lung(3)|prostate(1)|urinary_tract(2)	7						GGGGCTCCGCCGGGTGAGGCCG	0.678													G	45575605	-	G	45575604	7	5	41	1	0	1	1	0	0	0	0	0	17929	652	23	0	748	0	ZNF296	19	45575604	Frame_Shift_Ins	INS	-	TCGA-06-0192-01B-01W-0348-08	1352051	45575604	13553379	75	2511											
PLCG1	5335	broad.mit.edu	37	chr20	39801169	39801169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagttccttcagtacaatcGactgcagctctcccgcatct	9	11	7	14	2	3	0	1	0	2	0	6	2	4	0	2	0	3	5	2	0	3	3			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr20:39801169G>A	uc002xjp.1	+	25	3135	c.3014G>A	c.(3013-3015)cGa>cAa	p.R1005Q	PLCG1_uc002xjo.1_Missense_Mutation_p.R1005Q|PLCG1_uc010zwe.1_Missense_Mutation_p.R631Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1005	PI-PLC Y-box.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAGTACAATCGACTGCAGCTC	0.542													A	39801169	G	A	39801169	3	1	41	1	0	0	0	0	1	0	0	0	12112	1058	37	1	3116	1	PLCG1	20	39801169	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		39801169	23224351	76	2512											
TMPRSS15	5651	broad.mit.edu	37	chr21	19647560	19647560	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catagcctgcacatatcataTtttcagtaatgttatattct	12	17	4	8	0	3	0	2	0	1	0	3	0	3	0	1	0	2	3	1	0	6	9			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:19647560T>A	uc002ykw.3	-	23	2889	c.2858A>T	c.(2857-2859)aAt>aTt	p.N953I		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	953	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ACATATCATATTTTCAGTAAT	0.383													A	19647560	T	A	19647560	3	1	41	1	0	0	0	0	1	0	0	0	16346	1493	52	5	209	5	TMPRSS15	21	19647560	Missense_Mutation	SNP	T	TCGA-06-0192-01B-01W-0348-08		19647560	28482335	77	2513											
MX2	4600	broad.mit.edu	37	chr21	42778692	42778692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgattgaagacataaaaGtgaaacacacagcaaaggca	20	4	9	8	1	0	3	0	2	0	1	0	4	0	3	0	1	2	3	0	1	5	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:42778692G>A	uc002yzf.1	+	12	1776	c.1672G>A	c.(1672-1674)Gtg>Atg	p.V558M	MX2_uc002yzg.1_Missense_Mutation_p.V281M|MX2_uc010gop.1_Missense_Mutation_p.V40M	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	558					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				AGACATAAAAGTGAAACACAC	0.343													A	42778692	G	A	42778692	3	1	41	1	0	0	0	0	1	0	0	0	10074	1029	36	2	1718	2	MX2	21	42778692	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	23131132	42778692	5351203	78	2514											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978487	45978487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcagggggccggggCgcagcagctggtggcgcagc	5	3	22	11	3	1	0	1	0	0	0	1	0	1	0	1	8	3	5	1	8	0	0			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr21:45978487C>T	uc002zfj.1	-	0	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	38	18 X 5 AA repeats of C-C-X(3).					keratin filament		p.A38S(2)		kidney(1)|lung(4)|prostate(1)|skin(1)	7						GGGGCCGGGGCGCAGCAGCTG	0.697													T	45978487	C	T	45978487	3	4	41	1	0	0	0	0	1	0	0	0	8568	768	27	1	557	1	KRTAP10-3	21	45978487	Missense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	3199795	45978487	2151408	79	2515											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951019	30951019	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtccatcaggtactggAtctcgggcgtgagcatgcgc	7	8	15	11	4	2	1	1	1	1	0	4	3	3	2	1	4	3	2	1	4	1	1			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chr22:30951019A>C	uc003aig.1	-	3	1333	c.1193T>G	c.(1192-1194)aTc>aGc	p.I398S	GAL3ST1_uc003aih.1_Missense_Mutation_p.I398S|GAL3ST1_uc003aii.1_Missense_Mutation_p.I398S|GAL3ST1_uc010gvz.1_Missense_Mutation_p.I398S	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	398					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity	p.E397*(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CAGGTACTGGATCTCGGGCGT	0.642													C	30951019	A	C	30951019	3	2	41	1	0	0	0	0	1	0	0	0	6251	333	12	5	82	5	GAL3ST1	22	30951019	Missense_Mutation	SNP	A	TCGA-06-0192-01B-01W-0348-08		30951019	20353547	80	2516											
CYBB	1536	broad.mit.edu	37	chrX	37663372	37663372	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggagtttcaagatgcgtgGaaactacctaagtgagtaaa	15	9	11	6	1	1	2	1	1	0	1	1	4	1	4	1	2	3	2	1	2	6	4			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:37663372G>A	uc004ddr.2	+	8	1201	c.1140G>A	c.(1138-1140)tgG>tgA	p.W380*	CYBB_uc011mke.1_Non-coding_Transcript|CYBB_uc011mkf.1_Nonsense_Mutation_p.W348*|CYBB_uc011mkg.1_Nonsense_Mutation_p.W113*	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	380	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						AAGATGCGTGGAAACTACCTA	0.423													A	37663372	G	A	37663372	4	1	41	1	0	0	0	0	0	1	0	0	4166	1183	41	2	1174	2	CYBB	23	37663372	Nonsense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08		37663372	117607188	81	2517											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913863	77913863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactgcacttgagcctgccGaatttcattctccaatttca	9	13	5	14	1	3	1	2	1	1	0	4	2	3	1	4	0	3	1	4	0	2	4	rs148985625		TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:77913863G>A	uc022bzi.1	-	0	55	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	ZCCHC5_uc004edc.1_Missense_Mutation_p.R19W	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	19							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAGCCTGCCGAATTTCATTC	0.463													A	77913863	G	A	77913863	3	1	41	1	0	0	0	0	1	0	0	0	17692	1057	37	1	1376	1	ZCCHC5	23	77913863	Missense_Mutation	SNP	G	TCGA-06-0192-01B-01W-0348-08	40250491	77913863	77356697	82	2518											
GPR174	84636	broad.mit.edu	37	chrX	78426556	78426556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggagacaatacagattttCgatactttatttatgcagtg	13	15	8	5	1	0	2	0	0	0	2	1	4	0	2	0	1	3	1	0	1	5	8			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:78426556C>T	uc004edg.1	+	0	88	c.52C>T	c.(52-54)Cga>Tga	p.R18*		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	18						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R18*(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TACAGATTTTCGATACTTTAT	0.383										HNSCC(63;0.18)			T	78426556	C	T	78426556	4	4	41	1	0	0	0	0	0	1	0	0	6726	876	31	1	54	1	GPR174	23	78426556	Nonsense_Mutation	SNP	C	TCGA-06-0192-01B-01W-0348-08	512693	78426556	76844004	83	2519											
NKAP	79576	broad.mit.edu	37	chrX	119077554	119077554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatccgggctgcgtgagccGgacaccggagccatggctac	7	6	14	14	4	0	1	0	1	0	0	1	3	1	3	4	4	4	2	4	4	2	2			TCGA-06-0192-01B-01W-0348-08	TCGA-06-0192-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43d7bc6f-be9b-4d5e-bcec-4fb30b0d9b65	e41ffe0e-8035-42d4-b889-a3e81b62bf00	g.chrX:119077554G>A	uc004esh.3	-	0	182	c.15C>T	c.(13-15)tcC>tcT	p.S5S		NM_024528	NP_078804	Q8N5F7	NKAP_HUMAN	Homo sapiens NFKB activating protein (NKAP), mRNA.	5	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGCGTGAGCCGGACACCGGAG	0.692													A	119077554	G	A	119077554	2	1	41	1	0	0	0	0	0	0	0	1	10515	1103	39	1		1	NKAP	23	119077554	Silent	SNP	G	TCGA-06-0192-01B-01W-0348-08	40650998	119077554	36193006	84	2520											
GJB5	2709	broad.mit.edu	37	chr1	35223555	35223555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggagctcatctacctGgtgagcaagagatgccacga	10	8	12	11	2	2	2	1	1	1	1	3	5	2	3	2	2	4	2	2	2	2	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:35223555G>A	uc001bxu.3	+	1	724	c.624G>A	c.(622-624)ctG>ctA	p.L208L	GJB5_uc021okz.1_Silent_p.L208L|GJB4_uc001bxv.1_5'Flank	NM_005268	NP_005259	O95377	CXB5_HUMAN	Homo sapiens gap junction protein, beta 5, 31.1kDa (GJB5), mRNA.	208					cell communication|epidermis development	connexon complex|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)	10		Myeloproliferative disorder(586;0.0393)				TCATCTACCTGGTGAGCAAGA	0.552													A	35223555	G	A	35223555	2	1	42	1	0	0	0	0	0	0	0	1	6467	1335	47	2		2	GJB5	1	35223555	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		35223555	214027066	1	2521											
DMAP1	55929	broad.mit.edu	37	chr1	44684377	44684377	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttgatgctgggcacgaaCgacggcggaaggaacagctt	11	8	14	8	4	0	1	0	1	0	0	0	5	0	3	0	4	4	3	0	4	4	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:44684377C>T	uc001clq.1	+	5	750	c.670C>T	c.(670-672)Cga>Tga	p.R224*	DMAP1_uc010okt.1_3'UTR|DMAP1_uc001clr.1_Nonsense_Mutation_p.R224*|DMAP1_uc001cls.1_Nonsense_Mutation_p.R224*|DMAP1_uc010oku.1_Nonsense_Mutation_p.R214*	NM_001034024	NP_061973	Q9NPF5	DMAP1_HUMAN	Homo sapiens DNA methyltransferase 1 associated protein 1 (DMAP1), transcript variant 3, mRNA.	224					DNA methylation|histone H2A acetylation|histone H4 acetylation|negative regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(166;0.155)					TGGGCACGAACGACGGCGGAA	0.572											OREG0013437	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44684377	C	T	44684377	4	4	42	1	0	0	0	0	0	1	0	0	4615	528	19	1	688	1	DMAP1	1	44684377	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	9460822	44684377	204566244	2	2522											
FLG	2312	broad.mit.edu	37	chr1	152286042	152286042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcagcccagcctttccGtggcctgacactgattgtgt	5	13	10	13	1	1	2	1	2	1	0	3	2	2	2	4	1	2	0	4	1	0	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:152286042G>A	uc001ezu.1	-	2	1356	c.1320C>T	c.(1318-1320)caC>caT	p.H440H	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTTTCCGTGGCCTGACA	0.592									Ichthyosis				A	152286042	G	A	152286042	2	1	42	1	0	0	0	0	0	0	0	1	5971	1136	40	1		1	FLG	1	152286042	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	107601665	152286042	96964579	3	2523											
NES	10763	broad.mit.edu	37	chr1	156640774	156640774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccctggggccacatcaTcttccaccaggggctctatc	7	8	8	18	0	3	0	1	0	2	0	5	0	4	0	5	4	0	1	5	4	1	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:156640774T>A	uc001fpq.3	-	3	3339	c.3206A>T	c.(3205-3207)gAt>gTt	p.D1069V	NES_uc021pbh.1_5'Flank	NM_006617	NP_006608	P48681	NEST_HUMAN	Homo sapiens nestin (NES), mRNA.	1069	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GGCCACATCATCTTCCACCAG	0.682													A	156640774	T	A	156640774	3	1	42	1	0	0	0	0	1	0	0	0	10413	1435	50	5	1663	5	NES	1	156640774	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	4354732	156640774	92609847	4	2524											
C1orf129	80133	broad.mit.edu	37	chr1	170961421	170961421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatggaggacaccgtaaCggaagggaaacgtttctctc	13	7	13	8	3	1	0	0	0	1	0	3	5	1	5	1	5	2	2	1	5	4	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:170961421C>T	uc010plz.2	+	11	1299	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M	C1orf129_uc001ghg.3_Missense_Mutation_p.T382M|C1orf129_uc009wvy.3_Missense_Mutation_p.T189M	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	382							binding	p.V381I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GACACCGTAACGGAAGGGAAA	0.468													T	170961421	C	T	170961421	3	4	42	1	0	0	0	0	1	0	0	0	2016	536	19	1	1187	1	C1orf129	1	170961421	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	14320647	170961421	78289200	5	2525											
LHX9	56956	broad.mit.edu	37	chr1	197896816	197896816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaacctctttcaagcatCaccagctccggaccatgaaa	12	8	7	14	2	3	1	2	1	1	0	4	3	4	2	4	1	4	2	4	1	3	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:197896816C>A	uc001guk.1	+	3	1266	c.829C>A	c.(829-831)Cac>Aac	p.H277N	LHX9_uc001gui.1_Missense_Mutation_p.H268N|LHX9_uc021pgw.1_Non-coding_Transcript	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	277					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TTTCAAGCATCACCAGCTCCG	0.527													A	197896816	C	A	197896816	3	1	42	1	0	0	0	0	1	0	0	0	8837	826	29	4	875	4	LHX9	1	197896816	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	26935395	197896816	51353805	6	2526											
PCNXL2	80003	broad.mit.edu	37	chr1	233394108	233394108	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccttagactcggagccTgtatcaggtgtaagccggga	9	8	12	12	2	1	1	1	0	0	1	2	3	1	3	4	3	2	2	4	3	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr1:233394108T>C	uc001hvl.2	-	4	1735	c.1500A>G	c.(1498-1500)acA>acG	p.T500T	PCNXL2_uc009xfu.3_Non-coding_Transcript|PCNXL2_uc009xfv.1_Non-coding_Transcript	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN	Homo sapiens pecanex-like 2 (Drosophila) (PCNXL2), transcript variant 1, mRNA.	500						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTCGGAGCCTGTATCAGGTG	0.562													C	233394108	T	C	233394108	2	2	42	1	0	0	0	0	0	0	0	1	11668	1567	55	3		3	PCNXL2	1	233394108	Silent	SNP	T	TCGA-06-0195-01B-01D-1491-08	35497292	233394108	15856513	7	2527											
GPR75	10936	broad.mit.edu	37	chr2	54080319	54080320	+	In_Frame_Ins	INS	-	-	TGCACTAAG																															ctgaagtgctgtcatattccINStgcactaagtcattagtggt																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:54080319_54080320insTGCACTAAG	uc021vhn.1	-	0	1574_1575	c.1574_1575insCTTAGTGCA	c.(1573-1575)cag>caCTTAGTGCAg	p.524_525insHLV	GPR75-ASB3_uc002rxi.4_Intron|GPR75_uc002rxo.3_In_Frame_Ins_p.524_525insHLV	NM_006794	NP_006785	O95800	GPR75_HUMAN	Homo sapiens G protein-coupled receptor 75 (GPR75), mRNA.	524						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTCATATTCCTGCACTAAGTC	0.411													TGCACTAAG	54080320	-	TGCACTAAG	54080319	7	5	42	1	0	1	1	0	0	0	0	0	6762	680	24	0	51	0	GPR75	2	54080319	In_Frame_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		54080319	189119054	8	2528											
CEP68	23177	broad.mit.edu	37	chr2	65309696	65309696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatgtccttgggaggatcGcaaagcagtctggtgagctg	9	9	16	7	1	1	1	0	1	1	0	3	4	2	4	1	4	2	3	1	4	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:65309696G>A	uc002sdl.4	+	5	2345	c.2131G>A	c.(2131-2133)Gca>Aca	p.A711T	CEP68_uc010yqb.1_3'UTR|CEP68_uc002sdk.4_Missense_Mutation_p.A574T|CEP68_uc010yqc.2_Missense_Mutation_p.A711T	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	711					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGGGAGGATCGCAAAGCAGTC	0.463													A	65309696	G	A	65309696	3	1	42	1	0	0	0	0	1	0	0	0	3288	1087	38	1	2149	1	CEP68	2	65309696	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	11229377	65309696	177889677	9	2529											
TTN	7273	broad.mit.edu	37	chr2	179589211	179589211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttacactccagagtgcacGtttctcctacagtcaccgtc	8	11	6	16	2	2	1	1	0	1	1	5	1	3	1	4	0	3	2	4	0	2	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179589211G>A	uc021vsy.1	-	68	17384	c.17159C>T	c.(17158-17160)aCg>aTg	p.T5720M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T2381M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	6647	Ig-like 38.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAGTGCACGTTTCTCCTAC	0.478													A	179589211	G	A	179589211	3	1	42	1	0	0	0	0	1	0	0	0	16837	1145	40	1	83802	1	TTN	2	179589211	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	114279515	179589211	63610162	10	2530											
TTN	7273	broad.mit.edu	37	chr2	179637967	179637967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaattttatatttagaaCtgggcttgatttccttgtcc	8	19	6	8	0	1	2	1	1	0	1	3	2	3	2	2	1	1	1	2	1	5	9			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179637967C>A	uc021vsy.1	-	32	7949	c.7724G>T	c.(7723-7725)aGt>aTt	p.S2575I	TTN_uc021vsz.1_Missense_Mutation_p.S2529I|TTN_uc021vta.1_Missense_Mutation_p.S2529I|TTN_uc021vtb.1_Missense_Mutation_p.S2529I|TTN_uc002unb.2_Missense_Mutation_p.S2575I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2575							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATTTAGAACTGGGCTTGAT	0.353													A	179637967	C	A	179637967	3	1	42	1	0	0	0	0	1	0	0	0	16837	565	20	4	103584	4	TTN	2	179637967	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	48756	179637967	63561406	11	2531											
CCDC141	285025	broad.mit.edu	37	chr2	179701794	179701794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctcgaggaaccatttgCctctgatagcccctgctggt	6	13	9	13	1	3	1	0	1	3	0	4	3	3	2	4	2	4	1	4	2	2	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:179701794C>T	uc002une.2	-	22	4270	c.4152G>A	c.(4150-4152)agG>agA	p.R1384R	CCDC141_uc002unf.1_Silent_p.R863R	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	809							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAACCATTTGCCTCTGATAGC	0.493													T	179701794	C	T	179701794	2	4	42	1	0	0	0	0	0	0	0	1	2801	738	26	2		2	CCDC141	2	179701794	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	63827	179701794	63497579	12	2532											
MPP4	58538	broad.mit.edu	37	chr2	202557686	202557686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcgtacaagagacacactCcattcacatctctgccgtag	12	9	7	13	2	2	1	1	0	1	1	5	3	3	1	2	0	2	2	2	0	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:202557686C>A	uc002uyk.4	-	2	354	c.146G>T	c.(145-147)gGa>gTa	p.G49V	MPP4_uc010ftj.3_Missense_Mutation_p.G49V|MPP4_uc010zhq.2_Missense_Mutation_p.G49V|MPP4_uc010zht.2_Missense_Mutation_p.G49V|MPP4_uc010zhr.2_Missense_Mutation_p.G49V|MPP4_uc010zhs.2_Missense_Mutation_p.G49V|MPP4_uc002uyj.4_Missense_Mutation_p.G49V|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.G49V|MPP4_uc002uym.1_Missense_Mutation_p.G62V|MPP4_uc002uyn.3_Missense_Mutation_p.G49V	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	49	L27 1.					cytoplasm	protein binding			kidney(1)|lung(11)	12						GAGACACACTCCATTCACATC	0.547													A	202557686	C	A	202557686	3	1	42	1	0	0	0	0	1	0	0	0	9812	855	30	4	1847	4	MPP4	2	202557686	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	22855892	202557686	40641687	13	2533											
DIS3L2	129563	broad.mit.edu	37	chr2	233028324	233028324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattccaccagaggagttcaGcaagagaagggatttaaggt	15	8	12	6	0	1	2	1	0	0	2	2	5	2	4	2	3	1	2	2	3	4	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233028324G>T	uc010fxz.3	+	8	1382	c.1106G>T	c.(1105-1107)aGc>aTc	p.S369I	DIS3L2_uc002vsm.4_Non-coding_Transcript|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	369							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAGGAGTTCAGCAAGAGAAGG	0.433													T	233028324	G	T	233028324	3	4	42	1	0	0	0	0	1	0	0	0	4576	971	34	4	1136	4	DIS3L2	2	233028324	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	30470638	233028324	10171049	14	2534											
NEU2	4759	broad.mit.edu	37	chr2	233897493	233897493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtccctgctggccttcGcggaacagcgggcaagcaag	9	5	14	13	3	0	0	0	0	0	0	2	1	1	1	2	3	5	4	2	3	3	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:233897493G>A	uc010zmn.2	+	0	112	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	38							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCTGGCCTTCGCGGAACAGCG	0.622													A	233897493	G	A	233897493	3	1	42	1	0	0	0	0	1	0	0	0	10418	1087	38	1	114	1	NEU2	2	233897493	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	869169	233897493	9301880	15	2535											
DGKD	8527	broad.mit.edu	37	chr2	234358633	234358633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctccttgcacagctgtcGatgagcagaatgcccagacc	10	8	9	14	1	1	3	0	1	1	2	3	4	1	3	3	0	4	3	3	0	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr2:234358633G>A	uc002vui.1	+	15	1906	c.1894G>A	c.(1894-1896)Gat>Aat	p.D632N	DGKD_uc002vuj.1_Missense_Mutation_p.D588N|DGKD_uc010fyh.1_Missense_Mutation_p.D499N|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	632					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	CACAGCTGTCGATGAGCAGAA	0.642													A	234358633	G	A	234358633	3	1	42	1	0	0	0	0	1	0	0	0	4506	1058	37	1	1980	1	DGKD	2	234358633	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	461140	234358633	8840740	16	2536											
TRIM71	131405	broad.mit.edu	37	chr3	32859692	32859692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcgcagacgtccacGtcgtcggggggcggcggcgg	3	6	17	15	8	0	1	0	0	0	1	6	1	3	1	3	6	0	1	3	6	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:32859692G>A	uc003cff.3	+	0	183	c.120G>A	c.(118-120)acG>acA	p.T40T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	40	Ser-rich.				multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGACGTCCACGTCGTcggggg	0.736													A	32859692	G	A	32859692	2	1	42	1	0	0	0	0	0	0	0	1	16645	1132	40	1		1	TRIM71	3	32859692	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		32859692	165162738	17	2537											
SCAP	22937	broad.mit.edu	37	chr3	47460316	47460316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagcgtgactgggatgacgGgcagcaggctgatgtacctg	8	7	18	8	2	0	3	0	3	0	0	0	5	0	5	1	4	3	4	1	4	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:47460316G>A	uc003crh.1	-	13	2213	c.1958C>T	c.(1957-1959)cCc>cTc	p.P653L	SCAP_uc011baz.1_Missense_Mutation_p.P398L|SCAP_uc003crg.2_Missense_Mutation_p.P261L	NM_012235	NP_036367	Q12770	SCAP_HUMAN	Homo sapiens SREBF chaperone (SCAP), mRNA.	653					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		TGGGATGACGGGCAGCAGGCT	0.706													A	47460316	G	A	47460316	3	1	42	1	0	0	0	0	1	0	0	0	13969	1232	43	2	1921	2	SCAP	3	47460316	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	14600624	47460316	150562114	18	2538											
FAM116A	201627	broad.mit.edu	37	chr3	57627463	57627463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggttggttactcctaatAtaactgagggcctataaaaa	15	11	9	6	0	0	1	0	1	0	0	1	1	1	1	2	3	2	2	2	3	9	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:57627463A>G	uc003dja.3	-	11	1120	c.1049T>C	c.(1048-1050)aTa>aCa	p.I350T		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	350										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		TACTCCTAATATAACTGAGGG	0.328													G	57627463	A	G	57627463	3	3	42	1	0	0	0	0	1	0	0	0	5452	449	16	3	813	3	FAM116A	3	57627463	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	10167147	57627463	140394967	19	2539											
RUVBL1	8607	broad.mit.edu	37	chr3	127784027	127784027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaggcagcaggtttccaGatgagctggacaagcatgtt	11	10	13	7	0	0	3	0	2	0	1	1	4	1	4	1	3	3	6	1	3	2	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:127784027G>C	uc003ekf.3	-	9					SEC61A1_uc003ekb.3_Intron|SEC61A1_uc003ekc.3_Intron|SEC61A1_uc003ekd.3_Intron|SEC61A1_uc003ekg.3_5'UTR	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.						cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CAGGTTTCCAGATGAGCTGGA	0.448													C	127784027	G	C	127784027	3	2	42	1	0	0	0	0	1	0	0	0	13843	957	33	4		4	RUVBL1	3	127784027	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	70156564	127784027	70238403	20	2540											
TM4SF18	116441	broad.mit.edu	37	chr3	149051122	149051122	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attatactccaaagtgcaagCggaatcagcaaacaacttag	17	8	7	9	1	1	0	1	0	0	0	2	1	2	1	1	1	6	2	1	1	8	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:149051122C>A	uc021xfl.1	-	0	138	c.48G>T	c.(46-48)ccG>ccT	p.P16P	TM4SF18_uc003exa.3_Silent_p.P16P	NM_001184723	NP_620141	Q96CE8	T4S18_HUMAN	Homo sapiens transmembrane 4 L six family member 18 (TM4SF18), transcript variant 2, mRNA.	16						integral to membrane				lung(1)|ovary(1)|prostate(1)	3			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			AAAGTGCAAGCGGAATCAGCA	0.443													A	149051122	C	A	149051122	2	1	42	1	0	0	0	0	0	0	0	1	16067	755	27	4		4	TM4SF18	3	149051122	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	21267095	149051122	48971308	21	2541											
AADAC	13	broad.mit.edu	37	chr3	151532029	151532029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacgcctctcccagataacGttgaggagccatggagaatg	12	8	11	10	2	1	3	0	1	1	2	2	5	1	4	3	2	3	1	3	2	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:151532029G>A	uc003eze.3	+	0	169	c.79G>A	c.(79-81)Gtt>Att	p.V27I	MIR548H2_uc021xgb.1_Intron	NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	27					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CCCAGATAACGTTGAGGAGCC	0.408													A	151532029	G	A	151532029	3	1	42	1	0	0	0	0	1	0	0	0	10	1145	40	1	81	1	AADAC	3	151532029	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	2480907	151532029	46490401	22	2542											
HTR3E	285242	broad.mit.edu	37	chr3	183822631	183822631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgtaagtaatgaaggtcGcatcaggtataagaaaccca	17	9	9	6	1	1	2	1	1	0	1	2	2	1	2	1	2	1	4	1	2	7	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:183822631G>A	uc010hxr.3	+	2	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	HTR3E_uc010hxq.3_Missense_Mutation_p.R149H|HTR3E_uc003fml.4_Missense_Mutation_p.R134H|HTR3E_uc003fmm.3_Missense_Mutation_p.R164H|HTR3E_uc003fmn.3_Missense_Mutation_p.R149H	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	149						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AATGAAGGTCGCATCAGGTAT	0.488													A	183822631	G	A	183822631	3	1	42	1	0	0	0	0	1	0	0	0	7506	1087	38	1	505	1	HTR3E	3	183822631	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	32290602	183822631	14199799	23	2543											
ATP13A4	84239	broad.mit.edu	37	chr3	193158372	193158372	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttctgaaattcttccaccaGactggacttctgcccaggag	9	12	8	12	0	3	2	0	1	3	1	4	4	4	4	3	2	1	0	3	2	1	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr3:193158372G>A	uc003ftd.3	-	20	2602	c.2494C>T	c.(2494-2496)Ctg>Ttg	p.L832L	ATP13A4_uc003fte.1_Silent_p.L832L|ATP13A4_uc011bsr.1_Silent_p.L303L|ATP13A4_uc010hzi.3_Non-coding_Transcript	NM_032279	NP_115655	Q4VNC1	AT134_HUMAN	Homo sapiens ATPase type 13A4 (ATP13A4), mRNA.	832					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		TCTTCCACCAGACTGGACTTC	0.458													A	193158372	G	A	193158372	2	1	42	1	0	0	0	0	0	0	0	1	1131	933	33	2		2	ATP13A4	3	193158372	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	9335741	193158372	4864058	24	2544											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306576	2306576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctcagccgtctctgcGtcatccgcacccacctccca	7	9	5	20	3	4	0	3	0	2	0	8	0	6	0	5	0	2	1	5	0	0	0	rs146596546	by1000genomes	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:2306576G>A	uc003gex.2	-	7	1811	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	ZFYVE28_uc011bvk.2_Silent_p.D427D|ZFYVE28_uc011bvl.2_Silent_p.D467D|ZFYVE28_uc003gew.2_Silent_p.D383D	NM_020972	NP_001166130	Q9HCC9	LST2_HUMAN	Homo sapiens zinc finger, FYVE domain containing 28 (ZFYVE28), transcript variant 2, mRNA.	497					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						CCGTCTCTGCGTCATCCGCAC	0.672													A	2306576	G	A	2306576	2	1	42	1	0	0	0	0	0	0	0	1	17771	1136	40	1		1	ZFYVE28	4	2306576	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		2306576	188847700	25	2545											
SH3TC1	54436	broad.mit.edu	37	chr4	8230213	8230213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacctcctggaggccgtgcGgctgttctcgaggctgcccc	3	9	13	16	3	1	0	0	0	1	0	3	2	2	1	5	4	3	3	5	4	1	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:8230213G>A	uc003gkv.4	+	11	2893	c.2792G>A	c.(2791-2793)cGg>cAg	p.R931Q	SH3TC1_uc003gkw.4_Missense_Mutation_p.R855Q|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	931							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						GAGGCCGTGCGGCTGTTCTCG	0.701													A	8230213	G	A	8230213	3	1	42	1	0	0	0	0	1	0	0	0	14355	1116	39	1	2834	1	SH3TC1	4	8230213	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	5923637	8230213	182924063	26	2546											
RBM47	54502	broad.mit.edu	37	chr4	40440789	40440789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccatgctgtagcccgtgCgctccatcagcgccagcagt	7	7	11	16	3	1	0	1	0	0	0	2	0	2	0	4	0	5	5	4	0	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:40440789C>T	uc003gvc.2	-	3	832	c.122G>A	c.(121-123)cGc>cAc	p.R41H	RBM47_uc003gvd.2_Missense_Mutation_p.R41H|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R3H|RBM47_uc003gvg.1_Missense_Mutation_p.R41H	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	41						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTAGCCCGTGCGCTCCATCAG	0.731													T	40440789	C	T	40440789	3	4	42	1	0	0	0	0	1	0	0	0	13229	768	27	1	1675	1	RBM47	4	40440789	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	32210576	40440789	150713487	27	2547											
CSN3	1448	broad.mit.edu	37	chr4	71115169	71115169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgcagttactccacctaCggcataaaaacaccaaggaa	16	7	7	11	1	0	0	0	0	0	0	1	1	1	1	3	2	4	4	3	2	7	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr4:71115169C>T	uc003hfe.4	+	3	600	c.542C>T	c.(541-543)aCg>aTg	p.T181M		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	181				TPPT -> PTTS (in Ref. 5; AA sequence and 6; AA sequence).		extracellular region	protein binding	p.T181M(2)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ACTCCACCTACGGCATAAAAA	0.413													T	71115169	C	T	71115169	3	4	42	1	0	0	0	0	1	0	0	0	3982	536	19	1	552	1	CSN3	4	71115169	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	30674380	71115169	120039107	28	2548											
ADAMTS16	170690	broad.mit.edu	37	chr5	5232628	5232628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcctctgcaccaaccccAagtaagtatgccttgacctc	9	9	7	16	1	1	1	0	1	1	0	3	1	1	1	6	0	3	3	6	0	4	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:5232628A>G	uc003jdl.3	+	12	1988	c.1850_splice	c.e12+1	p.K617_splice	ADAMTS16_uc003jdk.1_Splice_Site_p.K617_splice|ADAMTS16_uc010itk.1_5'Flank	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	617	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CACCAACCCCAAGTAAGTATG	0.527													G	5232628	A	G	5232628	3	3	42	1	0	0	0	0	1	0	0	0	261	144	5	3	1895	3	ADAMTS16	5	5232628	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08		5232628	175682632	29	2549											
TRPC7	57113	broad.mit.edu	37	chr5	135587388	135587388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagacattgtgcagcgtgtCgtcctgcacgtgctggtcca	6	10	13	12	4	0	1	0	0	0	1	3	2	2	1	2	1	4	3	2	1	0	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:135587388C>T	uc003lbn.2	-	5	1750	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	TRPC7_uc010jef.2_Missense_Mutation_p.D446N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Missense_Mutation_p.D61N|TRPC7_uc010jeh.2_Missense_Mutation_p.D449N|TRPC7_uc010jei.2_Missense_Mutation_p.D394N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	510					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAGCGTGTCGTCCTGCACG	0.602													T	135587388	C	T	135587388	3	4	42	1	0	0	0	0	1	0	0	0	16685	884	31	1	1088	1	TRPC7	5	135587388	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	130354760	135587388	45327872	30	2550											
KIAA0141	9812	broad.mit.edu	37	chr5	141316857	141316857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgagatgttaccagcagtCagccgctctgggaaatgagg	10	9	13	9	1	2	2	1	2	1	1	2	4	2	3	2	2	3	3	2	2	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:141316857C>T	uc003lls.3	+	10	1366	c.1244C>T	c.(1243-1245)tCa>tTa	p.S415L	KIAA0141_uc003llt.3_Missense_Mutation_p.S415L	NM_001142603	NP_055588	Q14154	DELE_HUMAN	Homo sapiens KIAA0141 (KIAA0141), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	415					apoptosis|regulation of caspase activity	mitochondrion	protein binding			endometrium(3)|large_intestine(4)|lung(5)|skin(1)|urinary_tract(3)	16		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCAGCAGTCAGCCGCTCTG	0.562													T	141316857	C	T	141316857	3	4	42	1	0	0	0	0	1	0	0	0	8214	838	29	2	1286	2	KIAA0141	5	141316857	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	5729469	141316857	39598403	31	2551											
SOX30	11063	broad.mit.edu	37	chr5	157078323	157078323	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatcctaaggtcttgcTggtgcggcccaaaggcaccg	9	7	14	11	2	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr5:157078323T>G	uc003lxb.1	-	0	1106	c.764A>C	c.(763-765)cAg>cCg	p.Q255P	SOX30_uc003lxc.1_Missense_Mutation_p.Q255P|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	255					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGGTCTTGCTGGTGCGGCCC	0.642													G	157078323	T	G	157078323	3	3	42	1	0	0	0	0	1	0	0	0	15046	1580	55	5	1517	5	SOX30	5	157078323	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	15761466	157078323	23836937	32	2552											
DNAH8	1769	broad.mit.edu	37	chr6	38709656	38709656	+	Frame_Shift_Del	DEL	T	T	-																															aaatgttgcacactccaaacTgctaaaggtaaaaggctttt																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:38709656delT	uc021yzh.1	+	7	1395	c.1286delT	c.(1285-1287)ctgfs	p.L429fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.L212fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.D428N(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CACTCCAAACTGCTAAAGGTA	0.343													-	38709656	T	-	38709656	7	5	42	1	0	1	0	1	0	0	0	0	4646	1580	55	0	649	0	DNAH8	6	38709656	Frame_Shift_Del	DEL	T	TCGA-06-0195-01B-01D-1491-08		38709656	132405411	33	2553											
FILIP1	27145	broad.mit.edu	37	chr6	76023600	76023600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttcatcaaatccccttCgaccacttccaattgttgga	9	14	5	13	1	3	0	2	0	1	0	6	2	5	1	4	1	0	1	4	1	2	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:76023600C>T	uc010kbe.3	-	5	2487	c.1957G>A	c.(1957-1959)Gaa>Aaa	p.E653K	FILIP1_uc003phy.1_Missense_Mutation_p.E650K|FILIP1_uc003phz.3_Missense_Mutation_p.E551K|FILIP1_uc003pia.3_Missense_Mutation_p.E650K|FILIP1_uc003pib.1_Missense_Mutation_p.E402K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	650										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AAATCCCCTTCGACCACTTCC	0.418													T	76023600	C	T	76023600	3	4	42	1	0	0	0	0	1	0	0	0	5943	893	31	1	1701	1	FILIP1	6	76023600	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	37313944	76023600	95091467	34	2554											
HTR1B	3351	broad.mit.edu	37	chr6	78172165	78172165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacaataaaggctcccaaaAtgatccctagggtcttggtg	13	9	9	10	0	1	1	0	1	1	0	3	1	3	1	2	3	0	1	2	3	6	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:78172165A>C	uc003pil.1	-	0	956	c.956T>G	c.(955-957)aTt>aGt	p.I319S		NM_000863	NP_000854	P28222	5HT1B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1B (HTR1B), mRNA.	319					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	GGCTCCCAAAATGATCCCTAG	0.507													C	78172165	A	C	78172165	3	2	42	1	0	0	0	0	1	0	0	0	7495	101	4	5	220	5	HTR1B	6	78172165	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	2148565	78172165	92942902	35	2555											
HDAC2	3066	broad.mit.edu	37	chr6	114266601	114266601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgcagtttgaagtctggtCcaaaatactcaaagtaatca	15	12	7	7	0	3	1	2	1	1	0	4	1	4	1	1	1	2	3	1	1	7	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:114266601C>T	uc003pwd.2	-	9	1303	c.1016G>A	c.(1015-1017)gGa>gAa	p.G339E	HDAC2_uc003pwc.2_Missense_Mutation_p.G309E|HDAC2_uc003pwe.2_Missense_Mutation_p.G309E	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	339					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GAAGTCTGGTCCAAAATACTC	0.299													T	114266601	C	T	114266601	3	4	42	1	0	0	0	0	1	0	0	0	7062	855	30	2	470	2	HDAC2	6	114266601	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	36094436	114266601	56848466	36	2556											
SYNE1	23345	broad.mit.edu	37	chr6	152644693	152644693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttggggcggctccatcctgGagcatgctcagggtttgctg	4	11	16	10	1	1	0	1	0	0	0	3	1	3	1	2	5	3	6	2	5	0	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:152644693G>A	uc021zhb.1	-	79	16060	c.15837C>T	c.(15835-15837)ctC>ctT	p.L5279L	SYNE1_uc003qot.4_Silent_p.L5208L|SYNE1_uc003qou.4_Silent_p.L5279L|SYNE1_uc010kiz.3_Silent_p.L1034L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	5279					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)		CTCCATCCTGGAGCATGCTCA	0.567										HNSCC(10;0.0054)			A	152644693	G	A	152644693	2	1	42	1	0	0	0	0	0	0	0	1	15542	1161	41	2		2	SYNE1	6	152644693	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	38378092	152644693	18470374	37	2557											
TIAM2	26230	broad.mit.edu	37	chr6	155571053	155571053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagatctatgaggattatGggaccgtgtttgaccagcta	12	11	12	6	1	1	4	0	2	1	2	1	6	1	6	2	2	1	2	2	2	4	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr6:155571053G>A	uc003qqb.3	+	22	5174	c.3901G>A	c.(3901-3903)Ggg>Agg	p.G1301R	TIAM2_uc003qqe.3_Missense_Mutation_p.G1301R|TIAM2_uc010kjj.3_Missense_Mutation_p.G834R|TIAM2_uc003qqf.3_Missense_Mutation_p.G677R|TIAM2_uc011efl.1_Missense_Mutation_p.G637R|TIAM2_uc003qqg.3_Missense_Mutation_p.G613R|TIAM2_uc003qqh.3_Missense_Mutation_p.G226R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1301					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGAGGATTATGGGACCGTGTT	0.473													A	155571053	G	A	155571053	3	1	42	1	0	0	0	0	1	0	0	0	15991	1348	47	2	3971	2	TIAM2	6	155571053	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	2926360	155571053	15544014	38	2558											
AMZ1	155185	broad.mit.edu	37	chr7	2740173	2740174	+	Frame_Shift_Ins	INS	-	-	A																															cactgacgcagccctgcagcINSagctgtatgtgtccgccttc																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:2740173_2740174insA	uc003smr.1	+	1	449_450	c.88_89insA	c.(88-90)cagfs	p.Q30fs	AMZ1_uc003sms.1_Frame_Shift_Ins_p.Q30fs|AMZ1_uc011jwa.1_5'Flank	NM_133463	NP_597720	Q400G9	AMZ1_HUMAN	Homo sapiens archaelysin family metallopeptidase 1 (AMZ1), mRNA.	30							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		AGCCCTGCAGCAGCTGTATGTG	0.668													A	2740174	-	A	2740173	7	5	42	1	0	1	1	0	0	0	0	0	596	711	25	0	90	0	AMZ1	7	2740173	Frame_Shift_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		2740173	156398490	39	2559											
ABCB4	5244	broad.mit.edu	37	chr7	87060779	87060779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagttcgctgtggcttcCttgctccacaattactccat	7	14	6	14	1	1	0	1	0	0	0	5	0	4	0	3	1	2	4	3	1	2	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87060779C>T	uc003uiv.1	-	14	1910	c.1834G>A	c.(1834-1836)Gga>Aga	p.G612R	ABCB4_uc003uiw.1_Missense_Mutation_p.G612R|ABCB4_uc003uix.1_Missense_Mutation_p.G612R	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	612	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGTGGCTTCCTTGCTCCACA	0.478													T	87060779	C	T	87060779	3	4	42	1	0	0	0	0	1	0	0	0	43	690	24	2	2082	2	ABCB4	7	87060779	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	84320606	87060779	72077884	40	2560											
DBF4	10926	broad.mit.edu	37	chr7	87525787	87525787	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcactatatatttttttttAgggcaaaagagttggtagtg	11	18	9	3	0	1	1	1	0	0	1	1	1	1	1	0	2	0	3	0	2	7	11			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:87525787A>T	uc003ujf.1	+	7	1102	c.598_splice	c.e7-2	p.G200_splice	DBF4_uc003ujh.1_Splice_Site|DBF4_uc003ujg.1_Splice_Site|DBF4_uc011khf.1_Splice_Site_p.G2_splice	NM_006716	NP_006707	Q9UBU7	DBF4A_HUMAN	Homo sapiens DBF4 homolog (S. cerevisiae) (DBF4), mRNA.	200					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				ATTTTTTTTTAGGGCAAAAGA	0.299													T	87525787	A	T	87525787	5	4	42	1	0	0	0	0	0	0	1	0	4282	434	15	5	622	5	DBF4	7	87525787	Splice_Site	SNP	A	TCGA-06-0195-01B-01D-1491-08	465008	87525787	71612876	41	2561											
NPTX2	4885	broad.mit.edu	37	chr7	98256538	98256538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatctgtgtcacctggaCgacacgggatggcatgtggg	8	8	14	11	2	2	0	1	0	1	0	2	3	2	2	2	4	0	1	2	4	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:98256538C>T	uc003upl.2	+	3	1127	c.950C>T	c.(949-951)aCg>aTg	p.T317M		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	317	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GTCACCTGGACGACACGGGAT	0.642													T	98256538	C	T	98256538	3	4	42	1	0	0	0	0	1	0	0	0	10679	536	19	1	964	1	NPTX2	7	98256538	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	10730751	98256538	60882125	42	2562											
FBXO24	26261	broad.mit.edu	37	chr7	100187923	100187923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcgcagactcagtccgCgcctccaagatcagggttct	7	10	10	14	3	4	2	2	0	2	2	7	2	6	2	3	1	0	2	3	1	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:100187923C>T	uc011kjz.1	+	2	447	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	FBXO24_uc010lha.1_Non-coding_Transcript|FBXO24_uc003uvl.1_Missense_Mutation_p.R89C|FBXO24_uc003uvm.1_Missense_Mutation_p.R89C|FBXO24_uc003uvn.1_Intron|LOC100129845_uc011kjy.2_Non-coding_Transcript|FBXO24_uc011kka.1_Missense_Mutation_p.R77C	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	89						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACTCAGTCCGCGCCTCCAAGA	0.602													T	100187923	C	T	100187923	3	4	42	1	0	0	0	0	1	0	0	0	5784	768	27	1	432	1	FBXO24	7	100187923	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1931385	100187923	58950740	43	2563											
DLD	1738	broad.mit.edu	37	chr7	107545876	107545876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctacgaaagctgatggcgGcactcaggttattgatacaa	12	10	11	8	2	1	2	1	2	0	0	1	3	1	2	0	3	4	4	0	3	5	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:107545876G>A	uc003vet.3	+	6	619	c.509G>A	c.(508-510)gGc>gAc	p.G170D	DLD_uc010ljm.1_Non-coding_Transcript|DLD_uc011kmg.2_Intron|DLD_uc011kmh.2_Missense_Mutation_p.G147D|DLD_uc011kmi.2_Missense_Mutation_p.G71D	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	170					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	GCTGATGGCGGCACTCAGGTT	0.358													A	107545876	G	A	107545876	3	1	42	1	0	0	0	0	1	0	0	0	4590	1203	42	2	535	2	DLD	7	107545876	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	7357953	107545876	51592787	44	2564											
SSPO	23145	broad.mit.edu	37	chr7	149508065	149508065	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcacctctaccccccGggcagcactgtggttcgtcc	5	7	13	16	2	1	0	0	0	1	0	3	1	2	0	5	4	2	4	5	4	1	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr7:149508065G>C	uc010lpk.3	+	65	9450	c.9450G>C	c.(9448-9450)ccG>ccC	p.P3150P		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3153					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCTACCCCCCGGGCAGCACTG	0.602													C	149508065	G	C	149508065	2	2	42	1	0	0	0	0	0	0	0	1	15285	1103	39	4		4	SSPO	7	149508065	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	41962189	149508065	9630598	45	2565											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476765	110476765	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgggtcaccaacccgaaCaataccatacgacacaatgc	14	8	6	13	2	1	0	1	0	0	0	1	2	1	0	3	1	5	0	3	1	6	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr8:110476765C>A	uc003yne.3	+	48	7808	c.7704C>A	c.(7702-7704)aaC>aaA	p.N2568K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2568					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CCAACCCGAACAATACCATAC	0.468										HNSCC(38;0.096)			A	110476765	C	A	110476765	3	1	42	1	0	0	0	0	1	0	0	0	12049	477	17	4	7898	4	PKHD1L1	8	110476765	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		110476765	35887257	46	2566											
INSL6	11172	broad.mit.edu	37	chr9	5185586	5185586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagccacagcagggacaagCggaggagccgcggcatccct	11	2	14	14	3	0	0	0	0	0	0	1	3	1	3	3	4	4	2	3	4	2	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:5185586C>T	uc003zix.3	-	0	33	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	6						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		CAGGGACAAGCGGAGGAGCCG	0.642													T	5185586	C	T	5185586	3	4	42	1	0	0	0	0	1	0	0	0	7828	768	27	1	632	1	INSL6	9	5185586	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		5185586	136027845	47	2567											
PLIN2	123	broad.mit.edu	37	chr9	19116616	19116616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgctgagtcaggttgCgggcaattgcaagagtacgt	9	9	16	7	2	1	2	1	1	0	1	1	3	1	3	0	3	5	6	0	3	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:19116616C>T	uc003zno.3	-	7	1154	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLIN2_uc011lna.2_Missense_Mutation_p.R287H	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	315					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AGTCAGGTTGCGGGCAATTGC	0.463													T	19116616	C	T	19116616	3	4	42	1	0	0	0	0	1	0	0	0	12167	768	27	1	373	1	PLIN2	9	19116616	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	13931030	19116616	122096815	48	2568											
FAM75C1	441452	broad.mit.edu	37	chr9	90537694	90537694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaaagcccaatgtttcccCctactcacaagagggagaac	13	6	8	14	0	1	2	1	0	0	2	2	3	2	2	4	1	3	1	4	1	5	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:90537694C>T	uc010mqi.3	+	3	2901	c.2872C>T	c.(2872-2874)Cct>Tct	p.P958S	FAM75C1_uc004apq.4_Missense_Mutation_p.P941S|DQ578031_uc022bjg.1_5'Flank	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AATGTTTCCCCCTACTCACAA	0.483													T	90537694	C	T	90537694	3	4	42	1	0	0	0	0	1	0	0	0	5673	623	22	2	2886	2	FAM75C1	9	90537694	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	71421078	90537694	50675737	49	2569											
FBP1	2203	broad.mit.edu	37	chr9	97380089	97380089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggttccaacggacacaagGcaatcgatgttggaagatcc	13	8	11	9	2	0	1	0	0	0	1	3	4	2	3	2	4	1	3	2	4	4	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr9:97380089G>A	uc004auw.4	-	2	718	c.387C>T	c.(385-387)tgC>tgT	p.C129C	FBP1_uc010mrl.3_Silent_p.C129C	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	129					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CGGACACAAGGCAATCGATGT	0.388													A	97380089	G	A	97380089	2	1	42	1	0	0	0	0	0	0	0	1	5754	1195	42	2		2	FBP1	9	97380089	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	6842395	97380089	43833342	50	2570											
GDF2	2658	broad.mit.edu	37	chr10	48413762	48413762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatagcgtgtttcgtcggcGtcacatcgtcagccaagggg	7	9	14	11	6	2	0	2	0	0	0	5	1	2	0	1	3	2	1	1	3	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:48413762G>A	uc001jfa.1	-	1	1266	c.1106C>T	c.(1105-1107)aCg>aTg	p.T369M		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	369					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						TTTCGTCGGCGTCACATCGTC	0.582													A	48413762	G	A	48413762	3	1	42	1	0	0	0	0	1	0	0	0	6370	1145	40	1	187	1	GDF2	10	48413762	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		48413762	87120985	51	2571											
PTEN	5728	broad.mit.edu	37	chr10	89692992	89692992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatttctatggggaagtaaGgaccagagacaaaaaggtaa	18	7	12	4	0	1	2	0	0	1	2	1	5	1	4	1	4	0	2	1	4	6	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr10:89692992G>A	uc001kfb.3	+	4	1508	c.476G>A	c.(475-477)aGg>aAg	p.R159K	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	159	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R159K(10)|p.R159S(7)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGGAAGTAAGGACCAGAGAC	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692992	G	A	89692992	3	1	42	1	0	0	0	0	1	0	0	0	12823	1000	35	2	494	2	PTEN	10	89692992	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	41279230	89692992	45841755	52	2572											
PRDM11	56981	broad.mit.edu	37	chr11	45117447	45117447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcttcctttaccagagaGagaaagtaagttgtttaagc	12	13	8	8	0	1	2	0	0	1	2	3	4	2	2	2	0	2	3	2	0	4	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:45117447G>A	uc001myo.3	+	1	340	c.91G>A	c.(91-93)Gag>Aag	p.E31K		NM_020229	NP_064614	Q9NQV5	PRD11_HUMAN	Homo sapiens PR domain containing 11 (PRDM11), mRNA.	31										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						ttaccagagagagaaagtaag	0.488													A	45117447	G	A	45117447	3	1	42	1	0	0	0	0	1	0	0	0	12538	943	33	2	93	2	PRDM11	11	45117447	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		45117447	89889069	53	2573											
BCL9L	283149	broad.mit.edu	37	chr11	118773532	118773532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgggggtggcggcggcGgcagtggaggtggctgggac	3	4	26	8	4	0	0	0	0	0	0	0	2	0	2	1	11	0	2	1	11	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:118773532G>A	uc001pug.3	-	5	1885	c.920C>T	c.(919-921)cCg>cTg	p.P307L	BCL9L_uc009zal.3_Missense_Mutation_p.P302L	NM_182557	NP_872363	Q86UU0	BCL9L_HUMAN	Homo sapiens B-cell CLL/lymphoma 9-like (BCL9L), mRNA.	307	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		TGGCGGCGGCGGCAGTGGAGG	0.716													A	118773532	G	A	118773532	3	1	42	1	0	0	0	0	1	0	0	0	1387	1116	39	1	3591	1	BCL9L	11	118773532	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	73656085	118773532	16232984	54	2574											
TRIM29	23650	broad.mit.edu	37	chr11	120008709	120008709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttctgggctcgaccCgttgctcctggaggcatctg	3	11	13	14	2	2	0	0	0	2	0	4	2	3	1	3	4	1	5	3	4	0	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr11:120008709C>T	uc001pwz.3	-	0	155	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	TRIM29_uc001pxa.3_Non-coding_Transcript	NM_012101	NP_036233	Q14134	TRI29_HUMAN	Homo sapiens tripartite motif containing 29 (TRIM29), mRNA.	11					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		GGGCTCGACCCGTTGCTCCTG	0.632													T	120008709	C	T	120008709	3	4	42	1	0	0	0	0	1	0	0	0	16604	652	23	1	1771	1	TRIM29	11	120008709	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1235177	120008709	14997807	55	2575											
LRTM2	654429	broad.mit.edu	37	chr12	1943505	1943505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcggatggtccccaTggagatgttcaactactgct	9	10	12	10	1	1	1	1	0	0	1	2	4	2	3	2	4	4	2	2	4	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:1943505T>G	uc001qjt.2	+	4	1537	c.731T>G	c.(730-732)aTg>aGg	p.M244R	CACNA2D4_uc021qsx.1_Intron|CACNA2D4_uc009zds.2_Intron|CACNA2D4_uc009zdt.1_Intron|CACNA2D4_uc009zdr.2_Intron|LRTM2_uc001qju.2_Missense_Mutation_p.M244R|LRTM2_uc010sdx.1_Missense_Mutation_p.M244R|LRTM2_uc001qjv.2_Missense_Mutation_p.M6R	NM_001039029	NP_001157398	Q8N967	LRTM2_HUMAN	Homo sapiens leucine-rich repeats and transmembrane domains 2 (LRTM2), transcript variant 1, mRNA.	244	LRRCT.					integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			ATGGTCCCCATGGAGATGTTC	0.597													G	1943505	T	G	1943505	3	3	42	1	0	0	0	0	1	0	0	0	9115	1464	51	5	741	5	LRTM2	12	1943505	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08		1943505	131908390	56	2576											
CD163L1	283316	broad.mit.edu	37	chr12	7527093	7527093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtgctgcccccagccGcgggaagggcactgccacaa	8	4	13	16	3	0	0	0	0	0	0	1	1	0	1	4	2	4	2	4	2	2	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:7527093G>A	uc010sge.2	-	12	3410	c.3384C>T	c.(3382-3384)cgC>cgT	p.R1128R	CD163L1_uc001qsy.3_Silent_p.R1118R	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1118	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCCCCAGCCGCGGGAAGGGC	0.617													A	7527093	G	A	7527093	2	1	42	1	0	0	0	0	0	0	0	1	2998	1074	38	1		1	CD163L1	12	7527093	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	5583588	7527093	126324802	57	2577											
OVCH1	341350	broad.mit.edu	37	chr12	29628035	29628035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccttgaagccttgtaaaCgatttttaccatcactttta	10	16	6	9	1	1	1	1	1	0	0	1	2	1	1	3	1	3	1	3	1	5	8			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:29628035C>T	uc001rix.1	-	13	1559	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	520	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.R520H(2)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCCTTGTAAACGATTTTTACC	0.338													T	29628035	C	T	29628035	3	4	42	1	0	0	0	0	1	0	0	0	11399	536	19	1	1905	1	OVCH1	12	29628035	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	22100942	29628035	104223860	58	2578											
KRT79	338785	broad.mit.edu	37	chr12	53217720	53217720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcctctggatagtgcggGtgagctcagcaatctcgttc	7	10	13	11	2	3	1	1	1	2	0	5	2	3	2	1	2	4	4	1	2	2	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53217720G>A	uc001sbb.3	-	5	1130	c.1097C>T	c.(1096-1098)aCc>aTc	p.T366I	KRT79_uc001sba.3_Missense_Mutation_p.T137I	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	366	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GATAGTGCGGGTGAGCTCAGC	0.612													A	53217720	G	A	53217720	3	1	42	1	0	0	0	0	1	0	0	0	8550	1261	44	2	526	2	KRT79	12	53217720	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	23589685	53217720	80634175	59	2579											
EIF4B	1975	broad.mit.edu	37	chr12	53421578	53421578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctctagagtatcgagatcGttatgattcagaccggtatc	10	13	9	9	3	2	4	1	1	1	3	6	5	3	4	2	1	0	3	2	1	4	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:53421578G>A	uc001sbh.4	+	6	886	c.680G>A	c.(679-681)cGt>cAt	p.R227H	EIF4B_uc009zmp.1_Non-coding_Transcript|EIF4B_uc010snu.2_Missense_Mutation_p.R227H|EIF4B_uc010snv.2_Missense_Mutation_p.R188H	NM_001417	NP_001408	P23588	IF4B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4B (EIF4B), mRNA.	227	Arg-rich.|Asp-rich.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	p.R227C(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TATCGAGATCGTTATGATTCA	0.483													A	53421578	G	A	53421578	3	1	42	1	0	0	0	0	1	0	0	0	5068	1145	40	1	706	1	EIF4B	12	53421578	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	203858	53421578	80430317	60	2580											
CPSF6	11052	broad.mit.edu	37	chr12	69646899	69646899	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatattttggagataaaAttttttgaaaatcgggcaaa	17	14	8	2	1	0	3	0	2	0	1	1	4	0	3	0	2	0	1	0	2	7	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:69646899A>C	uc001sut.4	+	2	449	c.339A>C	c.(337-339)aaA>aaC	p.K113N	CPSF6_uc001suu.4_Missense_Mutation_p.K113N	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	113	Necessary for interaction with NUDT21/CPSF5.|RRM.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGGAGATAAAATTTTTTGAAA	0.323													C	69646899	A	C	69646899	3	2	42	1	0	0	0	0	1	0	0	0	3860	98	4	5	349	5	CPSF6	12	69646899	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	16225321	69646899	64204996	61	2581											
HAL	3034	broad.mit.edu	37	chr12	96389631	96389631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccacagtgagctgcgCgtcctggcagggcactgcca	7	5	13	16	2	0	1	0	1	0	0	1	1	1	1	4	2	4	3	4	2	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:96389631C>T	uc001tem.1	-	1	355	c.58G>A	c.(58-60)Gcg>Acg	p.A20T	HAL_uc010sux.1_Missense_Mutation_p.A20T|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	20					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	GTGAGCTGCGCGTCCTGGCAG	0.642													T	96389631	C	T	96389631	3	4	42	1	0	0	0	0	1	0	0	0	7002	768	27	1	1995	1	HAL	12	96389631	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	26742732	96389631	37462264	62	2582											
STAB2	55576	broad.mit.edu	37	chr12	104126949	104126949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgaagtttcatgtgataCgagatgccaaggtatttagt	12	15	10	4	1	1	3	1	2	0	1	1	4	1	3	1	1	2	2	1	1	5	6			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104126949C>T	uc001tjw.3	+	50	5635	c.5449C>T	c.(5449-5451)Cga>Tga	p.R1817*	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1817	FAS1 6.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCATGTGATACGAGATGCCAA	0.463													T	104126949	C	T	104126949	4	4	42	1	0	0	0	0	0	1	0	0	15334	528	19	1	5651	1	STAB2	12	104126949	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	7737318	104126949	29724946	63	2583											
NFYB	4801	broad.mit.edu	37	chr12	104517017	104517017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttacctctctgaatttcTgaaggtataatttcagaggt	11	17	7	6	0	3	3	1	2	2	1	4	3	3	3	1	2	1	1	1	2	6	7			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:104517017T>C	uc001tkl.1	-	4	617	c.416A>G	c.(415-417)cAg>cGg	p.Q139R		NM_006166	NP_006157	P25208	NFYB_HUMAN	Homo sapiens nuclear transcription factor Y, beta (NFYB), mRNA.	139	B domain.					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						TCTGAATTTCTGAAGGTATAA	0.363													C	104517017	T	C	104517017	3	2	42	1	0	0	0	0	1	0	0	0	10466	1580	55	3	223	3	NFYB	12	104517017	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	390068	104517017	29334878	64	2584											
TPCN1	53373	broad.mit.edu	37	chr12	113724880	113724880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctatttcatcgtggtcctgCgccccctccagctgctgagg	4	12	10	15	2	2	1	1	1	1	0	5	1	4	1	4	2	3	2	4	2	1	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113724880C>T	uc001tux.3	+	19	2005	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	TPCN1_uc001tuw.3_Missense_Mutation_p.R539C|TPCN1_uc010syt.1_Missense_Mutation_p.R471C	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	539						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CGTGGTCCTGCGCCCCCTCCA	0.617													T	113724880	C	T	113724880	3	4	42	1	0	0	0	0	1	0	0	0	16496	768	27	1	1905	1	TPCN1	12	113724880	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	9207863	113724880	20127015	65	2585											
SDSL	113675	broad.mit.edu	37	chr12	113873227	113873227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggggtgggggtctcctGgccggggtggtggctggcct	0	10	23	8	1	1	0	0	0	1	0	2	0	1	0	3	10	0	2	3	10	0	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:113873227G>A	uc001tvi.3	+	6	744	c.537G>A	c.(535-537)ctG>ctA	p.L179L	SDSL_uc009zwh.3_Silent_p.L179L	NM_138432	NP_612441	Q96GA7	SDSL_HUMAN	Homo sapiens serine dehydratase-like (SDSL), mRNA.	179					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	GGGGTCTCCTGGCCGGGGTGG	0.657													A	113873227	G	A	113873227	2	1	42	1	0	0	0	0	0	0	0	1	14069	1335	47	2		2	SDSL	12	113873227	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	148347	113873227	19978668	66	2586											
SCARB1	949	broad.mit.edu	37	chr12	125292425	125292425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccacgaagcgataggtGgggatgccttcaaacacccc	11	5	13	12	2	1	0	1	0	0	0	1	4	1	2	4	4	4	0	4	4	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr12:125292425G>A	uc001ugp.3	-	6	1144	c.891C>T	c.(889-891)ccC>ccT	p.P297P	SCARB1_uc001ugm.4_Silent_p.P297P|SCARB1_uc001ugn.4_Silent_p.P297P|SCARB1_uc010tbd.2_Silent_p.P297P|SCARB1_uc001ugo.4_Silent_p.P297P	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	297			P -> S (mutation carriers have increased HDL cholesterol levels and a reduction in cholesterol efflux from macrophages).		adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGCGATAGGTGGGGATGCCTT	0.582													A	125292425	G	A	125292425	2	1	42	1	0	0	0	0	0	0	0	1	13973	1335	47	2		2	SCARB1	12	125292425	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08	11419198	125292425	8559470	67	2587											
RB1	5925	broad.mit.edu	37	chr13	48947596	48947596	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttaaattcagcaagtgatCaaccttcagaaaatctgatt	15	14	5	7	0	4	3	3	2	1	1	4	3	4	3	1	0	2	1	1	0	6	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr13:48947596C>T	uc001vcb.3	+	11	1349	c.1183C>T	c.(1183-1185)Caa>Taa	p.Q395*	RB1_uc010act.1_Nonsense_Mutation_p.Q96*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	395	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.Q395*(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCAAGTGATCAACCTTCAGA	0.294		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48947596	C	T	48947596	4	4	42	1	0	0	0	0	0	1	0	0	13186	827	29	2	1229	2	RB1	13	48947596	Nonsense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		48947596	66222282	68	2588											
OR4K5	79317	broad.mit.edu	37	chr14	20389151	20389151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtatgtagccatatgcaaacCcttatactatgtggtcatca	12	13	7	9	0	2	0	2	0	0	0	2	0	2	0	2	1	4	3	2	1	7	6			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr14:20389151C>A	uc010tkw.2	+	0	386	c.386C>A	c.(385-387)cCc>cAc	p.P129H		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P129S(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATATGCAAACCCTTATACTAT	0.448													A	20389151	C	A	20389151	3	1	42	1	0	0	0	0	1	0	0	0	11149	623	22	4	388	4	OR4K5	14	20389151	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08		20389151	86960389	69	2589											
RNF151	146310	broad.mit.edu	37	chr16	2018613	2018614	+	Frame_Shift_Ins	INS	-	-	C																															caagggtcccagcagcgctgINSccccctgggctgcggggcca																										TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:2018613_2018614insC	uc002cnt.1	+	3	433_434	c.425_426insC	c.(424-426)tgcfs	p.C142fs	TCRBV20S1_uc021tak.1_Intron	NM_174903	NP_777563	Q2KHN1	RN151_HUMAN	Homo sapiens ring finger protein 151 (RNF151), mRNA.	142					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						CAGCAGCGCTGCCCCCTGGGCT	0.728													C	2018614	-	C	2018613	7	5	42	1	0	1	1	0	0	0	0	0	13543	1319	46	0	439	0	RNF151	16	2018613	Frame_Shift_Ins	INS	-	TCGA-06-0195-01B-01D-1491-08		2018613	88336140	70	2590											
ITGAX	3687	broad.mit.edu	37	chr16	31392315	31392315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctggcactcatcacagCggtactgtacaaagtgagtg	10	9	12	10	1	2	1	2	1	0	0	2	1	2	1	0	2	4	5	0	2	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr16:31392315C>T	uc002ebt.3	+	28	3441	c.3374C>T	c.(3373-3375)gCg>gTg	p.A1125V	ITGAX_uc002ebu.1_Missense_Mutation_p.A1125V	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	1125					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTCATCACAGCGGTACTGTAC	0.542													T	31392315	C	T	31392315	3	4	42	1	0	0	0	0	1	0	0	0	7947	768	27	1	3488	1	ITGAX	16	31392315	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	29373702	31392315	58962438	71	2591											
SLC16A13	201232	broad.mit.edu	37	chr17	6941650	6941650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagggggtccctgctgctgGtgtctgccctctccctccac	2	10	13	16	0	2	0	0	0	2	0	5	1	4	1	4	4	3	2	4	4	0	0	rs139041380		TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:6941650G>A	uc002geh.3	+	2	831	c.523G>A	c.(523-525)Gtg>Atg	p.V175M		NM_201566	NP_963860	Q7RTY0	MOT13_HUMAN	Homo sapiens solute carrier family 16, member 13 (monocarboxylic acid transporter 13) (SLC16A13), mRNA.	175						integral to membrane|plasma membrane	symporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						CCTGCTGCTGGTGTCTGCCCT	0.667													A	6941650	G	A	6941650	3	1	42	1	0	0	0	0	1	0	0	0	14500	1261	44	2	533	2	SLC16A13	17	6941650	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		6941650	74253560	72	2592											
DVL2	1856	broad.mit.edu	37	chr17	7130543	7130543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcctcccgccgctcaGgaaagccctccacgtgatgg	6	6	13	16	4	1	1	1	1	0	0	3	2	3	2	5	3	2	1	5	3	1	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7130543G>A	uc002gez.1	-	12	1691	c.1409C>T	c.(1408-1410)cCt>cTt	p.P470L	DVL2_uc010vtr.1_Missense_Mutation_p.P464L	NM_004422	NP_004413	O14641	DVL2_HUMAN	Homo sapiens dishevelled, dsh homolog 2 (Drosophila) (DVL2), mRNA.	470	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						CCGCCGCTCAGGAAAGCCCTC	0.577													A	7130543	G	A	7130543	3	1	42	1	0	0	0	0	1	0	0	0	4875	1000	35	2	813	2	DVL2	17	7130543	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	188893	7130543	74064667	73	2593											
TP53	7157	broad.mit.edu	37	chr17	7577096	7577096	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcctctgtgcgccggTctctcccaggacaggcacaa	6	10	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577096T>G	uc002gim.2	-	7	1036	c.842A>C	c.(841-843)gAc>gCc	p.D281A	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281A|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149A|TP53_uc010cnf.1_Missense_Mutation_p.D149A|TP53_uc002gii.1_Missense_Mutation_p.D149A|TP53_uc010cni.1_Missense_Mutation_p.D281A|TP53_uc010cnh.1_Missense_Mutation_p.D281A|TP53_uc002gij.2_Missense_Mutation_p.D281A|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.R280K(47)|p.D281E(28)|p.D281N(26)|p.D281G(20)|p.R280G(19)|p.D281H(19)|p.R280S(15)|p.R280I(14)|p.D281Y(11)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		TGTGCGCCGGTCTCTCCCAGG	0.552		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)			G	7577096	T	G	7577096	3	3	42	1	0	0	0	0	1	0	0	0	16482	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	446553	7577096	73618114	74	2594											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	11	10	5	15	1	2	1	2	0	0	1	4	1	4	1	4	0	3	3	4	0	4	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:7577142C>T	uc002gim.2	-	7	990	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134R|TP53_uc010cnf.1_Missense_Mutation_p.G134R|TP53_uc002gii.1_Missense_Mutation_p.G134R|TP53_uc010cni.1_Missense_Mutation_p.G266R|TP53_uc010cnh.1_Missense_Mutation_p.G266R|TP53_uc002gij.2_Missense_Mutation_p.G266R|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(91)|p.G266E(49)|p.G266V(36)|p.G266*(27)|p.L265P(15)|p.0?(8)|p.G266fs*79(7)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.L265R(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.G266_E271delGRNSFE(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.G266fs*9(2)|p.G266A(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.L265del(2)|p.E258fs*71(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.G266fs*4(1)|p.N263fs*5(1)|p.L265Q(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			T	7577142	C	T	7577142	3	4	42	1	0	0	0	0	1	0	0	0	16482	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	46	7577142	73618068	75	2595											
CCDC42	146849	broad.mit.edu	37	chr17	8638499	8638499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctggaagaggttcagcGtggccatcttaatggtgcca	9	10	13	9	2	3	1	1	0	2	1	3	3	3	2	2	4	2	1	2	4	2	2	rs141089641	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:8638499G>A	uc002gln.3	-	5	1015	c.788C>T	c.(787-789)aCg>aTg	p.T263M	CCDC42_uc002glo.3_Missense_Mutation_p.T189M	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	263										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GAGGTTCAGCGTGGCCATCTT	0.587													A	8638499	G	A	8638499	3	1	42	1	0	0	0	0	1	0	0	0	2841	1145	40	1	170	1	CCDC42	17	8638499	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	1061357	8638499	72556711	76	2596											
SLFN5	162394	broad.mit.edu	37	chr17	33591324	33591324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcaaggaatattgattTtttctcaaagctgggctgtg	9	16	9	7	0	3	1	2	1	2	0	5	2	3	2	0	2	1	2	0	2	4	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:33591324T>C	uc002hjf.4	+	3	1378	c.1261T>C	c.(1261-1263)Ttt>Ctt	p.F421L	SLFN5_uc010wcg.2_Intron	NM_144975	NP_659412	Q08AF3	SLFN5_HUMAN	Homo sapiens schlafen family member 5 (SLFN5), mRNA.	421					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AATATTGATTTTTTCTCAAAG	0.418													C	33591324	T	C	33591324	3	2	42	1	0	0	0	0	1	0	0	0	14831	1841	64	3	1271	3	SLFN5	17	33591324	Missense_Mutation	SNP	T	TCGA-06-0195-01B-01D-1491-08	24952825	33591324	47603886	77	2597											
FAM117A	81558	broad.mit.edu	37	chr17	47788746	47788746	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggcctggggctggcCgggggaaggggagatcccgg	4	5	24	8	2	0	1	0	0	0	1	1	3	1	2	3	11	0	1	3	11	1	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:47788746C>T	uc002ipk.3	-	7	1302	c.1233G>A	c.(1231-1233)ccG>ccA	p.P411P	FAM117A_uc010wlz.2_Silent_p.P139P	NM_030802	NP_110429	Q9C073	F117A_HUMAN	Homo sapiens family with sequence similarity 117, member A (FAM117A), mRNA.	411	Pro-rich.							p.P411L(1)		haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						TGGGGCTGGCCGGGGGAAGGG	0.652													T	47788746	C	T	47788746	2	4	42	1	0	0	0	0	0	0	0	1	5454	639	23	1		1	FAM117A	17	47788746	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	14197422	47788746	33406464	78	2598											
KCTD2	23510	broad.mit.edu	37	chr17	73049201	73049201	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagaacagaacttcacaaGtaatgtatttggaactgtta	16	12	8	5	0	1	2	1	1	0	2	1	4	1	3	0	1	3	3	0	1	7	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr17:73049201G>A	uc002jmp.3	+	3	607	c.540_splice	c.e3+1	p.Q180_splice	KCTD2_uc010dfz.3_Splice_Site|KCTD2_uc002jmq.3_Splice_Site	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	180						voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					AACTTCACAAGTAATGTATTT	0.478													A	73049201	G	A	73049201	5	1	42	1	0	0	0	0	0	0	1	0	8165	1043	36	2	551	2	KCTD2	17	73049201	Splice_Site	SNP	G	TCGA-06-0195-01B-01D-1491-08	25260455	73049201	8146009	79	2599											
NFIX	4784	broad.mit.edu	37	chr19	13184252	13184252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcacttaagtttccaGgactgttttgtgacttccgg	7	14	11	9	1	1	1	1	1	0	0	3	2	3	2	2	3	0	3	2	3	1	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:13184252G>A	uc010xmx.2	+	3	716	c.663G>A	c.(661-663)caG>caA	p.Q221Q	NFIX_uc002mwd.3_Silent_p.Q213Q|NFIX_uc002mwe.3_Silent_p.Q205Q|NFIX_uc002mwf.3_Silent_p.Q216Q|NFIX_uc002mwg.2_Silent_p.Q212Q			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	213					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			TAAGTTTCCAGGACTGTTTTG	0.522													A	13184252	G	A	13184252	2	1	42	1	0	0	0	0	0	0	0	1	10450	991	35	2		2	NFIX	19	13184252	Silent	SNP	G	TCGA-06-0195-01B-01D-1491-08		13184252	45944731	80	2600											
CYP4F3	4051	broad.mit.edu	37	chr19	15758051	15758051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaaagtggagccgccacCgtcggatgctgacgcctgcc	8	6	14	13	4	0	2	0	2	0	0	1	4	0	4	5	2	3	1	5	2	2	0	rs149124841	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:15758051C>T	uc010xok.2	+	4	492	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	CYP4F3_uc010xol.2_Missense_Mutation_p.R148C|CYP4F3_uc002nbj.3_Missense_Mutation_p.R148C|CYP4F3_uc010xom.2_5'UTR|CYP4F3_uc002nbk.3_Missense_Mutation_p.R148C|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	148					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GAGCCGCCACCGTCGGATGCT	0.567													T	15758051	C	T	15758051	3	4	42	1	0	0	0	0	1	0	0	0	4223	652	23	1	456	1	CYP4F3	19	15758051	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	2573799	15758051	43370932	81	2601											
MYO9B	4650	broad.mit.edu	37	chr19	17309077	17309077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcgacgcatcctccctcCcagacgcagggctgtccccg	6	5	11	19	4	0	1	0	0	0	1	4	2	4	1	5	2	0	3	5	2	0	0			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:17309077C>T	uc010eak.3	+	23	4350	c.4198C>T	c.(4198-4200)Cca>Tca	p.P1400S	MYO9B_uc002nfi.3_Missense_Mutation_p.P1400S|MYO9B_uc002nfj.1_Missense_Mutation_p.P1400S|MYO9B_uc002nfl.1_5'UTR	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1400	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						ATCCTCCCTCCCAGACGCAGG	0.622													T	17309077	C	T	17309077	3	4	42	1	0	0	0	0	1	0	0	0	10161	623	22	2	4288	2	MYO9B	19	17309077	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	1551026	17309077	41819906	82	2602											
ZNF492	57615	broad.mit.edu	37	chr19	22847727	22847727	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataattcatactggagagaAaccctacaaatgtgaagaat	18	9	8	6	0	1	3	1	1	0	2	1	6	1	4	1	1	3	0	1	1	7	4			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22847727A>C	uc002nqw.3	+	3	1500	c.1256A>C	c.(1255-1257)aAa>aCa	p.K419T		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				ACTGGAGAGAAACCCTACAAA	0.368													C	22847727	A	C	22847727	3	2	42	1	0	0	0	0	1	0	0	0	18044	14	1	5	1266	5	ZNF492	19	22847727	Missense_Mutation	SNP	A	TCGA-06-0195-01B-01D-1491-08	5538650	22847727	36281256	83	2603											
ZNF99	7652	broad.mit.edu	37	chr19	22941405	22941405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctaagggctgagaaacGcttaaaagctttgccacatt	12	13	8	8	1	1	1	0	1	1	1	1	2	1	1	1	1	3	3	1	1	4	6			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:22941405G>A	uc021urt.1	-	3	1461	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.H436Q(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAACGCTTAAAAGCT	0.373													A	22941405	G	A	22941405	3	1	42	1	0	0	0	0	1	0	0	0	18303	1087	38	1	2091	1	ZNF99	19	22941405	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	93678	22941405	36187578	84	2604											
TEAD2	8463	broad.mit.edu	37	chr19	49852054	49852054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcctgccaggctgggggcGatggggtaggtgggggcagg	5	5	24	7	1	0	0	0	0	0	0	0	2	0	0	2	9	2	3	2	9	1	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:49852054G>A	uc002pnh.3	-	8	759	c.653C>T	c.(652-654)tCg>tTg	p.S218L	TEAD2_uc002png.3_Missense_Mutation_p.S217L|TEAD2_uc002pni.3_Missense_Mutation_p.S217L|TEAD2_uc002pnj.3_Missense_Mutation_p.S214L|TEAD2_uc010yao.2_Missense_Mutation_p.S86L|TEAD2_uc010emw.3_Missense_Mutation_p.S217L	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	214	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		GGCTGGGGGCGATGGGGTAGG	0.572													A	49852054	G	A	49852054	3	1	42	1	0	0	0	0	1	0	0	0	15839	1059	37	1	722	1	TEAD2	19	49852054	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	26910649	49852054	9276929	85	2605											
SHANK1	50944	broad.mit.edu	37	chr19	51205802	51205802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagccatgaaggagcGtccgggtaccgctgagtaga	10	7	13	11	3	1	3	1	2	0	1	2	4	2	4	3	2	3	3	3	2	3	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr19:51205802G>A	uc002psx.1	-	10	1688	c.1669C>T	c.(1669-1671)Cgc>Tgc	p.R557C		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	557	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		ATGAAGGAGCGTCCGGGTACC	0.701													A	51205802	G	A	51205802	3	1	42	1	0	0	0	0	1	0	0	0	14358	1145	40	1	4868	1	SHANK1	19	51205802	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	1353748	51205802	7923181	86	2606											
FOXS1	2307	broad.mit.edu	37	chr20	30432906	30432906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcactgcctgccggtcGtggcgttggggactcctggg	4	9	17	11	3	0	1	0	1	0	0	2	2	1	2	3	5	3	2	3	5	0	1			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:30432906G>A	uc002wwt.1	-	0	515	c.440C>T	c.(439-441)aCg>aTg	p.T147M		NM_004118	NP_004109	O43638	FOXS1_HUMAN	Homo sapiens forkhead box S1 (FOXS1), mRNA.	147					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CCTGCCGGTCGTGGCGTTGGG	0.687													A	30432906	G	A	30432906	3	1	42	1	0	0	0	0	1	0	0	0	6086	1145	40	1	556	1	FOXS1	20	30432906	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		30432906	32592614	87	2607											
PLCG1	5335	broad.mit.edu	37	chr20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcgcttcgtggtgtatGaggaagacatgtttagtgac	8	14	13	6	2	1	3	0	2	1	1	2	4	1	4	0	2	1	3	0	2	3	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:39802384G>A	uc002xjp.1	+	28	3608	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_uc002xjo.1_Missense_Mutation_p.E1163K|PLCG1_uc010zwe.1_Missense_Mutation_p.E828K	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39802384	G	A	39802384	3	1	42	1	0	0	0	0	1	0	0	0	12112	1291	45	2	3601	2	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08	9369478	39802384	23223136	88	2608											
SEMG2	6406	broad.mit.edu	37	chr20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaatgccctacataagaCgacaaaatcacaacgacatc	17	8	5	11	2	1	2	1	1	0	1	2	4	1	2	1	0	3	0	1	0	6	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr20:43836216C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.T93M|SEMG2_uc002xnj.2_Missense_Mutation_p.T93M	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378													T	43836216	C	T	43836216	3	4	42	1	0	0	0	0	1	0	0	0	14138	536	19	1		1	SEMG2	20	43836216	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	4033832	43836216	19189304	89	2609											
COL6A2	1292	broad.mit.edu	37	chr21	47539015	47539015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcgggcctgggccccgCggacccaaaggcgagccggt	7	2	18	14	5	0	0	0	0	0	0	0	2	0	1	5	6	1	0	5	6	2	0	rs61735827	byFrequency	TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chr21:47539015C>T	uc002zia.1	+	13	1333	c.1251C>T	c.(1249-1251)cgC>cgT	p.R417R	COL6A2_uc002zhz.1_Silent_p.R417R|COL6A2_uc002zhy.1_Silent_p.R417R	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	417	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.R417R(2)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CTGGGCCCCGCGGACCCAAAG	0.662													T	47539015	C	T	47539015	2	4	42	1	0	0	0	0	0	0	0	1	3731	755	27	1		1	COL6A2	21	47539015	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08		47539015	590880	90	2610											
BCOR	54880	broad.mit.edu	37	chrX	39931847	39931847	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatggtttgggatcctcttGggttttaccaaaagttacag	11	14	10	6	0	1	0	0	0	1	0	2	1	2	1	2	3	2	3	2	3	5	5			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:39931847G>A	uc004den.4	-	3	3044	c.2752C>T	c.(2752-2754)Caa>Taa	p.Q918*	BCOR_uc004dep.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deo.4_Nonsense_Mutation_p.Q918*|BCOR_uc004dem.4_Nonsense_Mutation_p.Q918*|BCOR_uc004deq.4_Nonsense_Mutation_p.Q918*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	918					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGATCCTCTTGGGTTTTACCA	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39931847	G	A	39931847	4	1	42	1	0	0	0	0	0	1	0	0	1391	1357	47	2	2563	2	BCOR	23	39931847	Nonsense_Mutation	SNP	G	TCGA-06-0195-01B-01D-1491-08		39931847	115338713	91	2611											
DGKK	139189	broad.mit.edu	37	chrX	50114831	50114831	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcatcctcagcacttctCagctggtacagacaggaaaa	12	9	8	12	0	3	1	3	0	2	1	6	2	4	2	1	2	3	3	1	2	3	2			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:50114831C>T	uc010njr.2	-	26	3527	c.3483G>A	c.(3481-3483)ctG>ctA	p.L1161L		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	1168					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CAGCACTTCTCAGCTGGTACA	0.468													T	50114831	C	T	50114831	2	4	42	1	0	0	0	0	0	0	0	1	4511	813	29	2		2	DGKK	23	50114831	Silent	SNP	C	TCGA-06-0195-01B-01D-1491-08	10182984	50114831	105155729	92	2612											
GLUD2	2747	broad.mit.edu	37	chrX	120183088	120183088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatacacaatggagcgttCtgccaggcaaattatgcaca	13	8	10	10	1	1	0	0	0	1	0	1	1	1	1	1	3	4	4	1	3	4	3			TCGA-06-0195-01B-01D-1491-08	TCGA-06-0195-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2fac52-44aa-41f7-ae27-de6b7eba8ff1	42bb2316-23da-407e-9ba0-058a781d0eb4	g.chrX:120183088C>A	uc004eto.3	+	0	1627	c.1550C>A	c.(1549-1551)tCt>tAt	p.S517Y		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	517					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATGGAGCGTTCTGCCAGGCAA	0.463													A	120183088	C	A	120183088	3	1	42	1	0	0	0	0	1	0	0	0	6533	913	32	4	1552	4	GLUD2	23	120183088	Missense_Mutation	SNP	C	TCGA-06-0195-01B-01D-1491-08	70068257	120183088	35087472	93	2613											
CYP4A11	1579	broad.mit.edu	37	chr1	47400170	47400170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatccaaatgcctcttcctCttgatcttctccagctcccc	8	13	3	17	0	4	1	0	1	4	0	8	1	7	1	6	0	2	1	6	0	2	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:47400170C>G	uc001cqp.4	-	6	903	c.852G>C	c.(850-852)aaG>aaC	p.K284N	CYP4A11_uc001cqq.2_Missense_Mutation_p.K284N|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	284					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCTCTTCCTCTTGATCTTCT	0.498													G	47400170	C	G	47400170	3	3	43	1	0	0	0	0	1	0	0	0	4216	912	32	4	731	4	CYP4A11	1	47400170	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		47400170	201850451	1	2614											
CSDE1	7812	broad.mit.edu	37	chr1	115269683	115269683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtttcaccccacagtcaTcataagcaataatgccatcc	13	10	4	14	0	4	0	4	0	0	0	5	0	5	0	4	0	2	2	4	0	3	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:115269683T>C	uc001efi.3	-	13	2045	c.1523A>G	c.(1522-1524)gAt>gGt	p.D508G	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.D462G|CSDE1_uc001efm.3_Missense_Mutation_p.D477G|CSDE1_uc009wgv.3_Missense_Mutation_p.D462G|CSDE1_uc001efl.3_Missense_Mutation_p.D431G|CSDE1_uc001efn.3_Missense_Mutation_p.D431G	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	462					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding	p.R508*(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCCACAGTCATCATAAGCAAT	0.373													C	115269683	T	C	115269683	3	2	43	1	0	0	0	0	1	0	0	0	3962	1435	50	3	1043	3	CSDE1	1	115269683	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	67869513	115269683	133980938	2	2615											
TCHH	7062	broad.mit.edu	37	chr1	152084091	152084091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgtcttagttgttgctcGctcctcaaccgctgctggag	4	13	11	13	4	2	0	1	0	1	0	5	1	3	1	2	1	3	6	2	1	2	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:152084091G>A	uc009wne.1	-	2	1874	c.1602C>T	c.(1600-1602)agC>agT	p.S534S	TCHH_uc001ezp.2_Silent_p.S534S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	534	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTGTTGCTCGCTCCTCAACC	0.652													A	152084091	G	A	152084091	2	1	43	1	0	0	0	0	0	0	0	1	15800	1078	38	1		1	TCHH	1	152084091	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	36814408	152084091	97166530	3	2616											
OR10Z1	128368	broad.mit.edu	37	chr1	158577031	158577032	+	Frame_Shift_Del	DEL	TT	TT	-																															gcccaaagccagctactctcTtgagagagatcagcttattg																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:158577031_158577032delTT	uc010pio.2	+	0	803_804	c.803_804delTT	c.(802-804)cttfs	p.L268fs		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					AGCTACTCTCTTGAGAGAGATC	0.47													-	158577032	TT	-	158577031	7	5	43	1	0	1	0	1	0	0	0	0	10999	1609	56	0	805	0	OR10Z1	1	158577031	Frame_Shift_Del	DEL	TT	TCGA-06-0209-01A-01D-1491-08	6492940	158577031	90673590	4	2617											
LGR6	59352	broad.mit.edu	37	chr1	202287327	202287327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggtcagttctctgagtaCggagcccgctgggagacggg	6	10	16	9	3	2	2	1	1	1	1	3	4	2	3	1	4	2	3	1	4	1	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:202287327C>T	uc001gxu.3	+	17	1896	c.1896C>T	c.(1894-1896)taC>taT	p.Y632Y	LGR6_uc001gxv.3_Silent_p.Y580Y|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.Y493Y	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	632						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						TCTCTGAGTACGGAGCCCGCT	0.622													T	202287327	C	T	202287327	2	4	43	1	0	0	0	0	0	0	0	1	8818	547	19	1		1	LGR6	1	202287327	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	43710296	202287327	46963294	5	2618											
OR1C1	26188	broad.mit.edu	37	chr1	247921487	247921487	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggactgtagtcgaCgtaaagcagatgtcaacaaa	14	9	12	6	2	1	1	1	0	0	1	2	3	1	2	0	2	2	3	0	2	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr1:247921487C>T	uc010pza.2	-	0	222	c.222G>A	c.(220-222)acG>acA	p.T74T		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGTAGTCGACGTAAAGCAGA	0.463													T	247921487	C	T	247921487	2	4	43	1	0	0	0	0	0	0	0	1	11028	523	19	1		1	OR1C1	1	247921487	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	45634160	247921487	1329134	6	2619											
APOB	338	broad.mit.edu	37	chr2	21255225	21255225	+	Splice_Site	DEL	C	C	-																															aaatacagtgtggaaactcaCttgttgaccgcgtggctcag																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:21255225delC	uc002red.3	-	10	1480	c.1352_splice	c.e10+1	p.N451_splice		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	451	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGGAAACTCACTTGTTGACCG	0.537													-	21255225	C	-	21255225	8	5	43	1	0	1	0	1	0	0	1	0	788	579	20	0	12418	0	APOB	2	21255225	Splice_Site	DEL	C	TCGA-06-0209-01A-01D-1491-08		21255225	221944148	7	2620											
GLI2	2736	broad.mit.edu	37	chr2	121747197	121747197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaggcagccagtgtcctgGcatgactaccactatgagcc	9	7	12	13	0	0	2	0	2	0	0	1	2	1	2	4	3	3	3	4	3	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:121747197G>A	uc010flp.3	+	12	3737	c.3707G>A	c.(3706-3708)gGc>gAc	p.G1236D	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G908D|GLI2_uc002tmu.4_Missense_Mutation_p.G891D	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1236					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGTCCTGGCATGACTACC	0.652													A	121747197	G	A	121747197	3	1	43	1	0	0	0	0	1	0	0	0	6494	1203	42	2	3757	2	GLI2	2	121747197	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	100491972	121747197	121452176	8	2621											
POTEF	728378	broad.mit.edu	37	chr2	130877687	130877687	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcttctccacggacGtggtacctgggctccatgaa	8	10	10	13	2	2	2	0	1	2	1	5	3	4	3	4	3	1	2	4	3	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:130877687G>C	uc010fmh.2	-	2	802	c.402C>G	c.(400-402)caC>caG	p.H134Q		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	134						cell cortex	ATP binding	p.H134D(1)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCACGGACGTGGTACCTGG	0.592													C	130877687	G	C	130877687	3	2	43	1	0	0	0	0	1	0	0	0	12342	1136	40	4	2885	4	POTEF	2	130877687	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	9130490	130877687	112321686	9	2622											
FAM123C	205147	broad.mit.edu	37	chr2	131522112	131522112	+	Frame_Shift_Del	DEL	G	G	-																															ctttgaacagccagcaggaaGggggggtctctgcaagtgcc																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:131522112delG	uc021voy.1	+	0	2467	c.2467delG	c.(2467-2469)gggfs	p.G823fs	FAM123C_uc002trw.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmv.2_Frame_Shift_Del_p.G823fs|FAM123C_uc010fms.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmt.1_Frame_Shift_Del_p.G823fs|FAM123C_uc010fmu.1_Frame_Shift_Del_p.G823fs	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	823								p.V825fs*16(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAGCAGGAAGGGGGGGTCTC	0.677													-	131522112	G	-	131522112	7	5	43	1	0	1	0	1	0	0	0	0	5469	1000	35	0	2469	0	FAM123C	2	131522112	Frame_Shift_Del	DEL	G	TCGA-06-0209-01A-01D-1491-08	644425	131522112	111677261	10	2623											
KCNJ3	3760	broad.mit.edu	37	chr2	155711294	155711294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagttctttggggtcaTcgtttttttcctgtaatttc	6	20	9	6	1	2	1	1	1	1	0	5	2	3	1	1	2	0	3	1	2	2	7			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:155711294T>C	uc002tyv.1	+	2	1170	c.975T>C	c.(973-975)caT>caC	p.H325H	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	325					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TTTGGGGTCATCGTTTTTTTC	0.383													C	155711294	T	C	155711294	2	2	43	1	0	0	0	0	0	0	0	1	8110	1432	50	3		3	KCNJ3	2	155711294	Silent	SNP	T	TCGA-06-0209-01A-01D-1491-08	24189182	155711294	87488079	11	2624											
UPP2	151531	broad.mit.edu	37	chr2	158971751	158971751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatactgtatgtacaaaaccGggcctgtgctcgccatcagt	10	10	10	11	2	1	0	1	0	0	0	2	1	1	0	3	1	4	3	3	1	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:158971751G>A	uc002tzo.3	+	4	510	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	UPP2_uc002tzp.3_Missense_Mutation_p.G107R	NM_001135098	NP_775491	O95045	UPP2_HUMAN	Homo sapiens uridine phosphorylase 2 (UPP2), transcript variant 2, mRNA.	107					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						GTACAAAACCGGGCCTGTGCT	0.438													A	158971751	G	A	158971751	3	1	43	1	0	0	0	0	1	0	0	0	17115	1116	39	1	508	1	UPP2	2	158971751	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3260457	158971751	84227622	12	2625											
ITGB6	3694	broad.mit.edu	37	chr2	160964323	160964323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccagggaaacccctaacAtgatcatgggaatgtttgga	13	9	11	8	0	1	1	1	1	0	0	1	4	1	4	3	3	3	1	3	3	4	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:160964323A>G	uc002ubh.2	-	13	2150	c.2135T>C	c.(2134-2136)aTg>aCg	p.M712T	ITGB6_uc010fou.2_Missense_Mutation_p.M712T|ITGB6_uc010zcq.1_Missense_Mutation_p.M670T|ITGB6_uc010fov.1_Missense_Mutation_p.M712T	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	712					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AACCCCTAACATGATCATGGG	0.403													G	160964323	A	G	160964323	3	3	43	1	0	0	0	0	1	0	0	0	7957	217	8	3	239	3	ITGB6	2	160964323	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	1992572	160964323	82235050	13	2626											
TTN	7273	broad.mit.edu	37	chr2	179431071	179431071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaattccttttcttaattcGgagtcaaggtcaagttcagg	11	14	8	8	1	4	0	3	0	1	0	6	1	5	1	1	3	0	1	1	3	4	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:179431071G>A	uc021vsy.1	-	274	72309	c.72084C>T	c.(72082-72084)tcC>tcT	p.S24028S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.S17723S|TTN_uc021vta.1_Silent_p.S17656S|TTN_uc021vtb.1_Silent_p.S17531S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24955	Fibronectin type-III 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTAATTCGGAGTCAAGGT	0.453													A	179431071	G	A	179431071	2	1	43	1	0	0	0	0	0	0	0	1	16837	1103	39	1		1	TTN	2	179431071	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	18466748	179431071	63768302	14	2627											
UGT1A1	54658	broad.mit.edu	37	chr2	234669059	234669059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggcagccactggctgagCatgcttggggccatccagca	8	7	14	12	0	0	1	0	1	0	0	1	2	1	1	3	4	4	5	3	4	0	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr2:234669059C>T	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.S42S|UGT1A1_uc002vvb.3_Silent_p.S42S	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACTGGCTGAGCATGCTTGGGG	0.577													T	234669059	C	T	234669059	2	4	43	1	0	0	0	0	0	0	0	1	17046	709	25	2		2	UGT1A1	2	234669059	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	55237988	234669059	8530314	15	2628											
COL7A1	1294	broad.mit.edu	37	chr3	48629808	48629808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacccgccatgtcacacGgtagccagtggcacctggca	9	5	13	14	2	1	0	1	0	0	0	1	2	1	1	4	4	1	3	4	4	1	1	rs146041612		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:48629808G>A	uc003ctz.2	-	7	1070	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	357	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATGTCACACGGTAGCCAGTG	0.637													A	48629808	G	A	48629808	3	1	43	1	0	0	0	0	1	0	0	0	3735	1116	39	1	8209	1	COL7A1	3	48629808	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		48629808	149392622	16	2629											
IFT57	55081	broad.mit.edu	37	chr3	107938379	107938379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaagagtacaaaacatgtAgaactgttcgccagggttgg	14	8	12	7	1	0	2	0	0	0	2	1	2	0	2	1	2	4	5	1	2	6	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:107938379A>T	uc021xcc.1	-	1	399	c.346T>A	c.(346-348)Tac>Aac	p.Y116N	IFT57_uc003dwx.4_Missense_Mutation_p.Y85N	NM_018010	NP_060480	Q9NWB7	IFT57_HUMAN	Homo sapiens intraflagellar transport 57 homolog (Chlamydomonas) (IFT57), mRNA.	85					activation of caspase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cilium|microtubule basal body	DNA binding|protein binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			CAAAACATGTAGAACTGTTCG	0.408													T	107938379	A	T	107938379	3	4	43	1	0	0	0	0	1	0	0	0	7620	420	15	5	1076	5	IFT57	3	107938379	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	59308571	107938379	90084051	17	2630											
COL6A6	131873	broad.mit.edu	37	chr3	130354555	130354555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtatttagggtgagattgggGaccctggtggtccaggagag	8	10	18	5	0	0	2	0	1	0	2	1	5	1	3	2	6	0	1	2	6	2	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr3:130354555G>A	uc010htl.3	+	26	5072	c.5041G>A	c.(5041-5043)Gac>Aac	p.D1681N	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1681	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TGAGATTGGGGACCCTGGTGG	0.373													A	130354555	G	A	130354555	3	1	43	1	0	0	0	0	1	0	0	0	3734	1174	41	2	5147	2	COL6A6	3	130354555	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	22416176	130354555	67667875	18	2631											
FRAS1	80144	broad.mit.edu	37	chr4	79399128	79399128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtcattatcaacgataccGaggatgaacccacattagag	15	8	9	9	2	2	2	2	1	0	1	2	5	2	3	2	2	3	0	2	2	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:79399128G>A	uc003hlb.2	+	54	8451	c.8011G>A	c.(8011-8013)Gag>Aag	p.E2671K		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2666	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAACGATACCGAGGATGAACC	0.458													A	79399128	G	A	79399128	3	1	43	1	0	0	0	0	1	0	0	0	6093	1059	37	1	8304	1	FRAS1	4	79399128	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		79399128	111755148	19	2632											
NR3C2	4306	broad.mit.edu	37	chr4	149073647	149073647	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agactaggtctggtgcaaaaTagagaaattggctgttcgta	13	11	12	5	1	1	2	0	0	1	2	2	3	1	2	0	3	1	4	0	3	6	5			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:149073647T>C	uc003ilj.4	-	5	2846	c.2483A>G	c.(2482-2484)tAt>tGt	p.Y828C	NR3C2_uc003ilk.4_Missense_Mutation_p.Y711C|NR3C2_uc010iph.3_Intron	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	828	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TGGTGCAAAATAGAGAAATTG	0.358													C	149073647	T	C	149073647	3	2	43	1	0	0	0	0	1	0	0	0	10707	1406	49	3	487	3	NR3C2	4	149073647	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	69674519	149073647	42080629	20	2633											
ADAM29	11086	broad.mit.edu	37	chr4	175897719	175897719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgatgaggatacatgtcGttgttcacaacctagatgca	12	11	9	9	1	1	3	1	2	0	1	2	4	1	4	2	1	3	3	2	1	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr4:175897719G>A	uc003iuc.3	+	4	1713	c.1043G>A	c.(1042-1044)cGt>cAt	p.R348H	ADAM29_uc003iud.3_Missense_Mutation_p.R348H|ADAM29_uc010irr.3_Missense_Mutation_p.R348H|ADAM29_uc011cki.2_Missense_Mutation_p.R348H|ADAM29_uc021xuo.1_Missense_Mutation_p.R348H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	348	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		GATACATGTCGTTGTTCACAA	0.373													A	175897719	G	A	175897719	3	1	43	1	0	0	0	0	1	0	0	0	247	1145	40	1	1045	1	ADAM29	4	175897719	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	26824072	175897719	15256557	21	2634											
KIF3A	11127	broad.mit.edu	37	chr5	132038627	132038627	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcttttcctcctttCttccagttccatgttagatt	4	20	4	13	0	3	1	0	0	3	1	7	1	7	1	4	0	1	3	4	0	1	7			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:132038627C>A	uc011cxf.2	-	12	1751	c.1597G>T	c.(1597-1599)Gaa>Taa	p.E533*	KIF3A_uc003kxm.3_Nonsense_Mutation_p.E88*|KIF3A_uc003kxn.3_Nonsense_Mutation_p.E491*|KIF3A_uc003kxo.3_Nonsense_Mutation_p.E506*|KIF3A_uc003kxp.3_Nonsense_Mutation_p.E509*	NM_007054	NP_008985	Q9Y496	KIF3A_HUMAN	Homo sapiens kinesin family member 3A (KIF3A), mRNA.	506					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTCCTCCTTTCTTCCAGTTCC	0.408													A	132038627	C	A	132038627	4	1	43	1	0	0	0	0	0	1	0	0	8358	922	32	4	611	4	KIF3A	5	132038627	Nonsense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		132038627	48876633	22	2635											
SPOCK1	6695	broad.mit.edu	37	chr5	136324273	136324273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtcatagttcatgtccaActtgttgaacatccagccca	11	11	8	11	0	2	1	2	1	0	0	4	2	4	1	3	1	3	2	3	1	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:136324273A>G	uc003lbo.3	-	6	957	c.766T>C	c.(766-768)Ttg>Ctg	p.L256L	SPOCK1_uc003lbp.3_Silent_p.L256L	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	256					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCATGTCCAACTTGTTGAAC	0.498													G	136324273	A	G	136324273	2	3	43	1	0	0	0	0	0	0	0	1	15175	40	2	3		3	SPOCK1	5	136324273	Silent	SNP	A	TCGA-06-0209-01A-01D-1491-08	4285646	136324273	44590987	23	2636											
ETF1	2107	broad.mit.edu	37	chr5	137848498	137848498	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcagttttaaagtcagcGgatccagctaaaactagacc	14	10	8	9	1	2	1	2	0	0	1	3	2	3	2	2	1	3	3	2	1	5	5	rs145474099	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:137848498G>T	uc003ldc.4	-	5	852	c.687C>A	c.(685-687)tcC>tcA	p.S229S	ETF1_uc011cyv.2_Silent_p.S215S|ETF1_uc010jex.3_Non-coding_Transcript|ETF1_uc003ldd.4_Silent_p.S196S|ETF1_uc010jey.1_Silent_p.S35S	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	229					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAAAGTCAGCGGATCCAGCTA	0.403													T	137848498	G	T	137848498	2	4	43	1	0	0	0	0	0	0	0	1	5309	1103	39	4		4	ETF1	5	137848498	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	1524225	137848498	43066762	24	2637											
PCDHAC2	56146	broad.mit.edu	37	chr5	140176802	140176802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggagctggtcttactcGcagcagaggcggcagagggt	7	7	19	8	2	1	2	0	0	1	2	2	3	1	3	0	6	3	4	0	6	1	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:140176802G>A	uc003lhd.2	+	0	2359	c.2253G>A	c.(2251-2253)tcG>tcA	p.S751S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S751S|PCDHAC2_uc011czy.2_Silent_p.S751S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	788					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCTTACTCGCAGCAGAGGC	0.672													A	140176802	G	A	140176802	2	1	43	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140176802	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	2328304	140176802	40738458	25	2638											
ARAP3	64411	broad.mit.edu	37	chr5	141041288	141041288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggccagtgtgcggcGgttgacccgcggcaggcagc	5	5	20	11	4	0	1	0	1	0	0	0	2	0	1	2	6	2	3	2	6	0	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr5:141041288G>A	uc003llm.3	-	20	3160	c.3082C>T	c.(3082-3084)Cgc>Tgc	p.R1028C	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.R690C|ARAP3_uc003lln.3_Missense_Mutation_p.R859C	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1028	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AGTGTGCGGCGGTTGACCCGC	0.557													A	141041288	G	A	141041288	3	1	43	1	0	0	0	0	1	0	0	0	843	1116	39	1	1604	1	ARAP3	5	141041288	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	864486	141041288	39873972	26	2639											
ZNF165	7718	broad.mit.edu	37	chr6	28053436	28053436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttctgctaccaggatTctcctggacctcgcgaggca	7	9	12	13	2	2	0	0	0	2	0	4	3	2	2	3	4	2	4	3	4	1	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:28053436T>C	uc021yro.1	+	1	1005	c.178T>C	c.(178-180)Tct>Cct	p.S60P	ZNF165_uc003nkh.3_Missense_Mutation_p.S60P|ZNF165_uc003nki.4_Missense_Mutation_p.S60P	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	60					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTACCAGGATTCTCCTGGACC	0.537													C	28053436	T	C	28053436	3	2	43	1	0	0	0	0	1	0	0	0	17841	1783	62	3	180	3	ZNF165	6	28053436	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08		28053436	143061631	27	2640											
ITPR3	3710	broad.mit.edu	37	chr6	33653482	33653482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgctgggccccagcctgCgccgggggcacgaggtgagc	5	4	17	15	4	0	1	0	1	0	0	1	2	0	1	4	4	3	2	4	4	0	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:33653482C>T	uc021ywr.1	+	40	5769	c.5545C>T	c.(5545-5547)Cgc>Tgc	p.R1849C		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1849					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.R1849C(2)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCCCAGCCTGCGCCGGGGGCA	0.662													T	33653482	C	T	33653482	3	4	43	1	0	0	0	0	1	0	0	0	7980	768	27	1	5707	1	ITPR3	6	33653482	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	5600046	33653482	137461585	28	2641											
SNAP91	9892	broad.mit.edu	37	chr6	84292053	84292053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactggagatggggaaggCgccatgaaagaacccccaaa	14	4	13	10	1	1	3	1	1	0	2	1	5	1	4	3	4	1	0	3	4	4	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:84292053C>T	uc021zcf.1	-	21	2067	c.2037G>A	c.(2035-2037)gcG>gcA	p.A679A	SNAP91_uc011dzd.2_Silent_p.A182A|SNAP91_uc003pka.3_Silent_p.A677A|SNAP91_uc011dze.2_Silent_p.A677A|SNAP91_uc003pkc.3_Silent_p.A649A|SNAP91_uc003pkd.3_Silent_p.A372A|SNAP91_uc003pkb.3_Silent_p.A588A	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	679					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ATGGGGAAGGCGCCATGAAAG	0.433													T	84292053	C	T	84292053	2	4	43	1	0	0	0	0	0	0	0	1	14927	755	27	1		1	SNAP91	6	84292053	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	50638571	84292053	86823014	29	2642											
PM20D2	135293	broad.mit.edu	37	chr6	89868090	89868090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattacaatgttcttcccaAtaagagcctatggaaagcct	13	13	6	9	0	1	1	0	0	1	1	2	2	2	2	3	1	3	1	3	1	7	6	rs141826904	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:89868090A>G	uc003pmz.3	+	4	1054	c.959A>G	c.(958-960)aAt>aGt	p.N320S		NM_001010853	NP_001010853	Q8IYS1	P20D2_HUMAN	Homo sapiens peptidase M20 domain containing 2 (PM20D2), mRNA.	320							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		GTTCTTCCCAATAAGAGCCTA	0.318													G	89868090	A	G	89868090	3	3	43	1	0	0	0	0	1	0	0	0	12206	101	4	3	977	3	PM20D2	6	89868090	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	5576037	89868090	81246977	30	2643											
SIM1	6492	broad.mit.edu	37	chr6	100841583	100841583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcctcgagtggtcaagCgcaaagccatagcagagaga	14	4	12	11	2	1	2	1	0	0	2	2	4	1	2	3	1	4	2	3	1	3	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:100841583C>T	uc003pqj.4	-	9	1817	c.1350G>A	c.(1348-1350)gcG>gcA	p.A450A	SIM1_uc021zdg.1_Silent_p.A450A|SIM1_uc010kcu.3_Silent_p.A450A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	450	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGTGGTCAAGCGCAAAGCCAT	0.622													T	100841583	C	T	100841583	2	4	43	1	0	0	0	0	0	0	0	1	14417	755	27	1		1	SIM1	6	100841583	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	10973493	100841583	70273484	31	2644											
BCLAF1	9774	broad.mit.edu	37	chr6	136599630	136599630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagatctatatgaccggCgagatctgcttctggatctt	10	13	10	8	2	4	4	0	1	4	3	4	6	4	5	1	2	1	1	1	2	4	5	rs147614051		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:136599630C>T	uc003qgx.1	-	3	642	c.389G>A	c.(388-390)cGc>cAc	p.R130H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R128H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R128H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R130H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	130					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATATGACCGGCGAGATCTGCT	0.458													T	136599630	C	T	136599630	3	4	43	1	0	0	0	0	1	0	0	0	1388	768	27	1	2413	1	BCLAF1	6	136599630	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	35758047	136599630	34515437	32	2645											
OPRM1	4988	broad.mit.edu	37	chr6	154412347	154412347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcccattcacatttacGtcatcattaaagccttggtt	10	14	6	11	1	3	0	3	0	0	0	4	1	4	1	2	2	2	1	2	2	3	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr6:154412347G>A	uc011efe.2	+	4	1706	c.1183G>A	c.(1183-1185)Gtc>Atc	p.V395I	OPRM1_uc011efd.2_Missense_Mutation_p.V202I|OPRM1_uc011efc.1_Missense_Mutation_p.V221I|OPRM1_uc003qpn.2_Missense_Mutation_p.V302I|OPRM1_uc003qpo.1_Missense_Mutation_p.V302I|OPRM1_uc011eff.1_Missense_Mutation_p.V302I|OPRM1_uc011efg.1_Missense_Mutation_p.V302I|OPRM1_uc011efi.2_Missense_Mutation_p.V302I|OPRM1_uc011efh.1_Missense_Mutation_p.V302I|OPRM1_uc003qpq.1_Missense_Mutation_p.V302I|OPRM1_uc003qpr.2_Missense_Mutation_p.V302I|OPRM1_uc003qpt.1_Missense_Mutation_p.V302I|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.V202I|OPRM1_uc003qpu.2_Missense_Mutation_p.V202I	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	302					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TCACATTTACGTCATCATTAA	0.483													A	154412347	G	A	154412347	3	1	43	1	0	0	0	0	1	0	0	0	10963	1145	40	1	1248	1	OPRM1	6	154412347	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	17812717	154412347	16702720	33	2646											
SDK1	221935	broad.mit.edu	37	chr7	4011107	4011107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttttttcagatcggacgtCcatcgtccaccctcctgagg	6	13	9	13	3	1	2	1	1	0	1	6	3	4	3	4	2	0	1	4	2	0	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:4011107C>A	uc003smx.3	+	11	1863	c.1724C>A	c.(1723-1725)tCc>tAc	p.S575Y		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	575	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATCGGACGTCCATCGTCCAC	0.552													A	4011107	C	A	4011107	3	1	43	1	0	0	0	0	1	0	0	0	14061	855	30	4	1770	4	SDK1	7	4011107	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		4011107	155127556	34	2647											
IKZF1	10320	broad.mit.edu	37	chr7	50468038	50468038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccgcacgcgcgcaacGggctgtcgctcaaggaggag	7	4	15	15	7	1	0	1	0	0	0	3	2	1	2	2	3	1	4	2	3	2	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:50468038G>A	uc003tow.4	+	7	1428	c.1273G>A	c.(1273-1275)Ggg>Agg	p.G425R	IKZF1_uc022acq.1_Missense_Mutation_p.G282R|IKZF1_uc003tpa.4_Missense_Mutation_p.G190R|IKZF1_uc022acr.1_Missense_Mutation_p.G200R|IKZF1_uc022acs.1_Missense_Mutation_p.G155R|IKZF1_uc022act.1_Missense_Mutation_p.G328R|IKZF1_uc022acu.1_Missense_Mutation_p.G338R|IKZF1_uc003tox.4_Missense_Mutation_p.G383R|IKZF1_uc022acv.1_Missense_Mutation_p.G286R|IKZF1_uc022acw.1_Missense_Mutation_p.G296R|IKZF1_uc022acx.1_Missense_Mutation_p.G338R|IKZF1_uc022acy.1_Missense_Mutation_p.G232R|IKZF1_uc022acz.1_Missense_Mutation_p.G242R|IKZF1_uc011kck.2_Missense_Mutation_p.G338R|IKZF1_uc003toy.4_Missense_Mutation_p.G383R|IKZF1_uc003toz.4_Missense_Mutation_p.G395R|IKZF1_uc010kyx.3_Missense_Mutation_p.G165R	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	425				PHARNGL -> RRAQRV (in Ref. 2; AAB50683).	cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CGCGCGCAACGGGCTGTCGCT	0.677			"D,T"	BCL6	"ALL, DLBCL"								A	50468038	G	A	50468038	3	1	43	1	0	0	0	0	1	0	0	0	7672	1116	39	1	1299	1	IKZF1	7	50468038	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	46456931	50468038	108670625	35	2648											
VSTM2A	222008	broad.mit.edu	37	chr7	54636702	54636702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttataacttcttccgcagGtgcgaggatagctacaagcc	10	11	9	11	2	2	0	0	0	2	0	3	2	3	1	2	2	5	2	2	2	5	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:54636702G>C	uc010kzf.3	+	5	1040	c.635_splice	c.e5-1	p.G212_splice	AB074160_uc022adl.1_Intron|AB074160_uc003tqd.3_5'Flank	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	212						extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			TCTTCCGCAGGTGCGAGGATA	0.383													C	54636702	G	C	54636702	3	2	43	1	0	0	0	0	1	0	0	0	17331	1275	44	4	653	4	VSTM2A	7	54636702	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4168664	54636702	104501961	36	2649											
CALCR	799	broad.mit.edu	37	chr7	93106887	93106887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatggatcaaaatccGgaaaataatctgggcagaac	16	8	9	8	1	2	2	1	1	1	1	3	4	3	4	2	3	2	1	2	3	7	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:93106887G>A	uc003umv.2	-	5	653	c.353C>T	c.(352-354)cCg>cTg	p.P118L	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.P100L|CALCR_uc003umw.2_Missense_Mutation_p.P100L	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	100					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATCAAAATCCGGAAAATAATC	0.413													A	93106887	G	A	93106887	3	1	43	1	0	0	0	0	1	0	0	0	2605	1116	39	1	1217	1	CALCR	7	93106887	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	38470185	93106887	66031776	37	2650											
ZAN	7455	broad.mit.edu	37	chr7	100357434	100357434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtgaccctgcccgagaGcaccgtcaccctgcttaagg	8	7	10	16	3	1	2	1	1	0	1	1	3	1	2	4	1	4	2	4	1	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:100357434G>A	uc003uwj.3	+	17	3827	c.3662G>A	c.(3661-3663)aGc>aAc	p.S1221N	ZAN_uc003uwk.3_Missense_Mutation_p.S1221N|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_5'Flank	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1221	VWFD 1.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTGCCCGAGAGCACCGTCACC	0.602													A	100357434	G	A	100357434	3	1	43	1	0	0	0	0	1	0	0	0	17615	971	34	2	3728	2	ZAN	7	100357434	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	7250547	100357434	58781229	38	2651											
C7orf58	79974	broad.mit.edu	37	chr7	120655897	120655897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggccggggctactagAacaaggtcagaatagtgaga	13	6	14	8	1	1	3	1	1	0	3	1	4	1	3	2	4	2	1	2	4	7	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:120655897A>G	uc003vjq.4	+	2	875	c.428A>G	c.(427-429)gAa>gGa	p.E143G	C7orf58_uc003vjr.1_Missense_Mutation_p.E143G|C7orf58_uc003vjs.4_Missense_Mutation_p.E143G	NM_024913	NP_079189	A4D0V7	CG058_HUMAN	Homo sapiens chromosome 7 open reading frame 58 (C7orf58), transcript variant 1, mRNA.	143						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	66	all_neural(327;0.117)					GGGCTACTAGAACAAGGTCAG	0.423													G	120655897	A	G	120655897	3	3	43	1	0	0	0	0	1	0	0	0	2429	246	9	3	434	3	C7orf58	7	120655897	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	20298463	120655897	38482766	39	2652											
JHDM1D	80853	broad.mit.edu	37	chr7	139826573	139826573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggccaataattttccAcccaggaaagttttttggct	10	14	7	10	0	1	0	0	0	1	0	2	1	2	1	3	3	0	2	3	3	3	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:139826573A>T	uc003vvm.3	-	5	756	c.752T>A	c.(751-753)gTg>gAg	p.V251E		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	251	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ATAATTTTCCACCCAGGAAAG	0.378													T	139826573	A	T	139826573	3	4	43	1	0	0	0	0	1	0	0	0	8006	159	6	5	2133	5	JHDM1D	7	139826573	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	19170676	139826573	19312090	40	2653											
GSTK1	373156	broad.mit.edu	37	chr7	142964771	142964771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttctggaaaagatcgcaaCgccaaaggtgaagaaccagc	16	5	10	10	2	1	3	0	1	1	2	2	4	1	4	2	2	3	1	2	2	6	1	rs41275042	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:142964771C>T	uc003wci.3	+	5	567	c.482C>T	c.(481-483)aCg>aTg	p.T161M	GSTK1_uc011ksy.2_Missense_Mutation_p.T118M|GSTK1_uc003wcj.3_Missense_Mutation_p.T217M|GSTK1_uc011ksz.2_Missense_Mutation_p.T149M	NM_015917	NP_057001	Q9Y2Q3	GSTK1_HUMAN	Homo sapiens glutathione S-transferase kappa 1 (GSTK1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	AAGATCGCAACGCCAAAGGTG	0.512													T	142964771	C	T	142964771	3	4	43	1	0	0	0	0	1	0	0	0	6891	536	19	1	668	1	GSTK1	7	142964771	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	3138198	142964771	16173892	41	2654											
NOBOX	135935	broad.mit.edu	37	chr7	144098495	144098495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgtggggagccctggagCgggggggcgggcacagtctc	4	7	20	10	2	1	0	0	0	1	0	2	2	1	2	1	7	2	1	1	7	0	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:144098495C>T	uc022aoj.1	-	3	488	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	163					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGCCCTGGAGCGGGGGGGCGG	0.627													T	144098495	C	T	144098495	3	4	43	1	0	0	0	0	1	0	0	0	10588	768	27	1	1519	1	NOBOX	7	144098495	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	1133724	144098495	15040168	42	2655											
AGAP3	116988	broad.mit.edu	37	chr7	150840441	150840441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcagagaggagaaggaaCgctggatacgggccaagtat	13	6	16	6	2	0	2	0	0	0	2	0	6	0	4	1	4	3	4	1	4	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:150840441C>T	uc003wjg.1	+	16	2290	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	AGAP3_uc003wje.1_Missense_Mutation_p.R432C|AGAP3_uc003wjj.1_Missense_Mutation_p.R262C|AGAP3_uc003wjk.1_Missense_Mutation_p.R181C	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	727					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding	p.R763C(2)		central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						GGAGAAGGAACGCTGGATACG	0.617													T	150840441	C	T	150840441	3	4	43	1	0	0	0	0	1	0	0	0	369	536	19	1	2420	1	AGAP3	7	150840441	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	6741946	150840441	8298222	43	2656											
RBM33	155435	broad.mit.edu	37	chr7	155538204	155538204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggacacaaagcctggcGtgaaaaggactgtcacgcac	13	4	11	13	2	1	1	1	1	0	0	1	3	1	3	2	3	1	1	2	3	3	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr7:155538204G>T	uc010lqk.1	+	13	3255	c.2887G>T	c.(2887-2889)Gtg>Ttg	p.V963L	RBM33_uc011kvv.1_Missense_Mutation_p.V772L|RBM33_uc003wmg.2_5'Flank	NM_053043	NP_444271	Q96EV2	RBM33_HUMAN	Homo sapiens RNA binding motif protein 33 (RBM33), mRNA.	963							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		AAAGCCTGGCGTGAAAAGGAC	0.602													T	155538204	G	T	155538204	3	4	43	1	0	0	0	0	1	0	0	0	13218	1145	40	4	2941	4	RBM33	7	155538204	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4697763	155538204	3600459	44	2657											
RB1CC1	9821	broad.mit.edu	37	chr8	53571454	53571454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggaatggctgaacttccGaaggacaaaatgattgcaga	15	8	12	6	1	0	4	0	3	0	1	1	7	1	6	1	3	2	2	1	3	5	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr8:53571454G>A	uc003xre.4	-	12	2330	c.1772C>T	c.(1771-1773)tCg>tTg	p.S591L	RB1CC1_uc003xrf.4_Missense_Mutation_p.S591L	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	591					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTGAACTTCCGAAGGACAAAA	0.323													A	53571454	G	A	53571454	3	1	43	1	0	0	0	0	1	0	0	0	13187	1059	37	1	3060	1	RB1CC1	8	53571454	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		53571454	92792568	45	2658											
C10orf2	56652	broad.mit.edu	37	chr10	102749558	102749558	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggggcggctggaagatcaActggacaaatatgatcactg	13	7	14	7	1	2	2	2	1	0	1	2	5	2	4	0	5	1	1	0	5	4	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr10:102749558A>G	uc001ksf.2	+	1	2076	c.1401A>G	c.(1399-1401)caA>caG	p.Q467Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Silent_p.Q13Q|C10orf2_uc001ksg.2_Silent_p.Q467Q|C10orf2_uc001ksi.2_Silent_p.Q13Q|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	467	SF4 helicase.				cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		TGGAAGATCAACTGGACAAAT	0.542													G	102749558	A	G	102749558	2	3	43	1	0	0	0	0	0	0	0	1	1608	40	2	3		3	C10orf2	10	102749558	Silent	SNP	A	TCGA-06-0209-01A-01D-1491-08		102749558	32785189	46	2659											
OR56A4	120793	broad.mit.edu	37	chr11	6024337	6024337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtttccactgaggccCtgtatctgtcccaataaagt	8	13	10	10	0	1	1	0	1	1	0	3	1	3	1	3	2	0	2	3	2	4	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:6024337C>T	uc010qzv.2	-	0	42	c.42G>A	c.(40-42)caG>caA	p.Q14Q		NM_001005179	NP_001005179	Q8NGH8	O56A4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 4 (OR56A4), mRNA.	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGAGGCCCTGTATCTGTC	0.368													T	6024337	C	T	6024337	2	4	43	1	0	0	0	0	0	0	0	1	11211	680	24	2		2	OR56A4	11	6024337	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		6024337	128982179	47	2660											
OR4P4	81300	broad.mit.edu	37	chr11	55406071	55406071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtgacccccaaattaAtggttgacttactggcagaa	13	9	8	11	0	0	3	0	2	0	1	0	3	0	3	3	2	1	2	3	2	4	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:55406071A>G	uc010rij.2	+	0	238	c.238A>G	c.(238-240)Atg>Gtg	p.M80V		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CCCCAAATTAATGGTTGACTT	0.413													G	55406071	A	G	55406071	3	3	43	1	0	0	0	0	1	0	0	0	11156	101	4	3	240	3	OR4P4	11	55406071	Missense_Mutation	SNP	A	TCGA-06-0209-01A-01D-1491-08	49381734	55406071	79600445	48	2661											
GLYATL1	92292	broad.mit.edu	37	chr11	58723260	58723260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtctcatgggtaaccatGgacccttcttgtgaagtagg	8	11	12	10	1	2	1	1	1	2	0	3	2	2	2	3	4	1	2	3	4	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:58723260G>A	uc001nnh.2	+	6	812	c.762G>A	c.(760-762)atG>atA	p.M254I	GLYATL1_uc001nnf.3_Missense_Mutation_p.M223I|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.M223I|GLYATL1_uc001nnj.2_Missense_Mutation_p.M223I	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	223						mitochondrion	glycine N-acyltransferase activity	p.M254I(2)|p.M223I(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GGGTAACCATGGACCCTTCTT	0.522													A	58723260	G	A	58723260	3	1	43	1	0	0	0	0	1	0	0	0	6536	1348	47	2	788	2	GLYATL1	11	58723260	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3317189	58723260	76283256	49	2662											
TRPC6	7225	broad.mit.edu	37	chr11	101347101	101347101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcaaagtatcatttgcgtCaatgatgctctgggctttgg	8	15	10	8	1	4	1	3	1	1	0	4	1	4	1	0	2	2	3	0	2	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:101347101C>T	uc001pgk.4	-	5	2100	c.1675G>A	c.(1675-1677)Gac>Aac	p.D559N	TRPC6_uc009ywy.3_Missense_Mutation_p.D443N|TRPC6_uc009ywz.1_Missense_Mutation_p.D504N	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	559					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TCATTTGCGTCAATGATGCTC	0.378													T	101347101	C	T	101347101	3	4	43	1	0	0	0	0	1	0	0	0	16684	826	29	2	1152	2	TRPC6	11	101347101	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	42623841	101347101	33659415	50	2663											
USP28	57646	broad.mit.edu	37	chr11	113677209	113677209	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaattttaaaaacagagatAccttaatcagccctgcttca	16	11	5	9	0	2	2	2	0	0	2	2	3	2	2	2	0	4	1	2	0	6	5			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr11:113677209A>G	uc001poh.3	-	19	2433	c.2400_splice	c.e19+1	p.K800_splice	USP28_uc001pog.3_Intron|USP28_uc010rwy.2_Intron|USP28_uc001poi.3_Intron	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	800					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		AAACAGAGATACCTTAATCAG	0.438													G	113677209	A	G	113677209	5	3	43	1	0	0	0	0	0	0	1	0	17160	405	14	3	859	3	USP28	11	113677209	Splice_Site	SNP	A	TCGA-06-0209-01A-01D-1491-08	12330108	113677209	21329307	51	2664											
LRP6	4040	broad.mit.edu	37	chr12	12311913	12311913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgagatgagtgaaagaCgaggatgtccatcacataat	14	9	11	7	2	1	4	1	2	0	2	3	7	2	5	1	1	0	0	1	1	2	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:12311913C>T	uc001rah.4	-	11	2783	c.2641G>A	c.(2641-2643)Gtc>Atc	p.V881I	BCL2L14_uc001raf.1_Intron|LRP6_uc010shl.1_Missense_Mutation_p.V881I	NM_002336	NP_002327	O75581	LRP6_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 6 (LRP6), mRNA.	881	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding	p.V881L(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GAGTGAAAGACGAGGATGTCC	0.537													T	12311913	C	T	12311913	3	4	43	1	0	0	0	0	1	0	0	0	9032	536	19	1	2248	1	LRP6	12	12311913	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		12311913	121539982	52	2665											
OVCH1	341350	broad.mit.edu	37	chr12	29628100	29628100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaatattgaagtgatGgtcaacattccacaaagttt	15	12	8	6	0	1	3	1	3	0	0	2	4	2	3	1	1	2	1	1	1	6	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:29628100G>A	uc001rix.1	-	13	1494	c.1494C>T	c.(1492-1494)acC>acT	p.T498T		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	498	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TTGAAGTGATGGTCAACATTC	0.299													A	29628100	G	A	29628100	2	1	43	1	0	0	0	0	0	0	0	1	11399	1335	47	2		2	OVCH1	12	29628100	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	17316187	29628100	104223795	53	2666											
LRP1	4035	broad.mit.edu	37	chr12	57600507	57600507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accggcgacagattgaccggGgtgtcacccacctcaacgtg	9	6	12	14	4	2	2	2	1	0	1	2	3	2	2	4	3	1	0	4	3	1	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:57600507G>T	uc001snd.3	+	75	12308	c.11842G>T	c.(11842-11844)Ggt>Tgt	p.G3948C		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	3948					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GATTGACCGGGGTGTCACCCA	0.607													T	57600507	G	T	57600507	3	4	43	1	0	0	0	0	1	0	0	0	9021	1232	43	4	12144	4	LRP1	12	57600507	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	27972407	57600507	76251388	54	2667											
GRIP1	23426	broad.mit.edu	37	chr12	66911726	66911726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgttatcacaactggaCgagatttatttctatcatca	13	14	5	9	1	4	1	3	0	1	1	4	3	4	2	0	1	1	1	0	1	4	5			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr12:66911726C>T	uc001stk.3	-	5	774	c.533G>A	c.(532-534)cGt>cAt	p.R178H	GRIP1_uc010sta.1_Missense_Mutation_p.R122H|GRIP1_uc001stm.3_Missense_Mutation_p.R178H|GRIP1_uc001stl.1_Missense_Mutation_p.R122H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	178	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACAACTGGACGAGATTTATT	0.388													T	66911726	C	T	66911726	3	4	43	1	0	0	0	0	1	0	0	0	6842	536	19	1	2773	1	GRIP1	12	66911726	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	9311219	66911726	66940169	55	2668											
GNG2	54331	broad.mit.edu	37	chr14	52433353	52433353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcctgacccctgttcCggcttcagaaaacccgttta	7	10	6	18	2	1	2	1	1	0	1	3	2	3	2	7	1	1	3	7	1	3	4	rs139067662	by1000genomes	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:52433353C>T	uc001wzi.3	+	3	721	c.164C>T	c.(163-165)cCg>cTg	p.P55L	GNG2_uc001wzh.3_Non-coding_Transcript|GNG2_uc010aoc.2_Non-coding_Transcript|GNG2_uc021rte.1_Missense_Mutation_p.P55L|GNG2_uc001wzj.3_Missense_Mutation_p.P55L|GNG2_uc001wzk.3_Missense_Mutation_p.P55L	NM_053064	NP_444292	P59768	GBG2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 2 (GNG2), transcript variant 1, mRNA.	55					cellular response to glucagon stimulus|energy reserve metabolic process|platelet activation|synaptic transmission	heterotrimeric G-protein complex	protein binding|signal transducer activity	p.P55L(4)		lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	all_epithelial(31;0.0659)|Breast(41;0.0684)				Halothane(DB01159)	ACCCCTGTTCCGGCTTCAGAA	0.527													T	52433353	C	T	52433353	3	4	43	1	0	0	0	0	1	0	0	0	6583	652	23	1	170	1	GNG2	14	52433353	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		52433353	54916187	56	2669											
LTBP2	4053	broad.mit.edu	37	chr14	74970199	74970199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtgctgttcatgcagcGctgctggctgaggtccaggg	4	10	17	10	1	1	1	1	1	0	0	2	1	2	1	1	4	4	7	1	4	0	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:74970199G>A	uc001xqa.3	-	31	5080	c.4693C>T	c.(4693-4695)Cgc>Tgc	p.R1565C		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1565	EGF-like 18; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTCATGCAGCGCTGCTGGCTG	0.672													A	74970199	G	A	74970199	3	1	43	1	0	0	0	0	1	0	0	0	9144	1087	38	1	792	1	LTBP2	14	74970199	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	22536846	74970199	32379341	57	2670											
PSMC1	5700	broad.mit.edu	37	chr14	90736610	90736610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagcgcatctttcagattCacacaagcaggatgacgctg	13	8	10	10	2	3	3	2	1	1	2	3	4	3	4	0	1	2	3	0	1	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:90736610C>T	uc001xyf.3	+	9	1150	c.1102C>T	c.(1102-1104)Cac>Tac	p.H368Y	PSMC1_uc001xyg.3_Missense_Mutation_p.H295Y|PSMC1_uc001xyh.3_Missense_Mutation_p.H295Y	NM_002802	NP_002793	P62191	PRS4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 1 (PSMC1), mRNA.	368					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CTTTCAGATTCACACAAGCAG	0.502													T	90736610	C	T	90736610	3	4	43	1	0	0	0	0	1	0	0	0	12770	826	29	2	1140	2	PSMC1	14	90736610	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	15766411	90736610	16612930	58	2671											
SERPINA3	12	broad.mit.edu	37	chr14	95080911	95080911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagaccgagggacacacGtggacctcggattagcctcc	11	5	11	14	3	0	1	0	0	0	1	2	5	1	4	5	3	1	0	5	3	2	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:95080911G>A	uc001ydp.3	+	1	292	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	SERPINA3_uc001ydo.4_Missense_Mutation_p.V70M|SERPINA3_uc010avf.1_Non-coding_Transcript|SERPINA3_uc001ydr.3_Non-coding_Transcript|SERPINA3_uc021sbb.1_Non-coding_Transcript|SERPINA3_uc010avg.3_Missense_Mutation_p.V45M|SERPINA3_uc001yds.3_Missense_Mutation_p.V45M	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	45					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.V45M(2)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		AGGGACACACGTGGACCTCGG	0.572													A	95080911	G	A	95080911	3	1	43	1	0	0	0	0	1	0	0	0	14183	1145	40	1	135	1	SERPINA3	14	95080911	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4344301	95080911	12268629	59	2672											
BCL11B	64919	broad.mit.edu	37	chr14	99642475	99642475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgcagcaggaaccacGcgctgttgaagggctgcttg	7	8	15	11	3	0	1	0	1	0	0	0	2	0	2	1	2	5	7	1	2	2	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr14:99642475G>A	uc001yga.3	-	3	965	c.698C>T	c.(697-699)gCg>gTg	p.A233V	BCL11B_uc001ygb.3_Missense_Mutation_p.A162V	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	233						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CAGGAACCACGCGCTGTTGAA	0.617			T	TLX3	T-ALL								A	99642475	G	A	99642475	3	1	43	1	0	0	0	0	1	0	0	0	1369	1087	38	1	1990	1	BCL11B	14	99642475	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	4561564	99642475	7707065	60	2673											
HDC	3067	broad.mit.edu	37	chr15	50535347	50535347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggtattacctttagaCgaaaaaccaccaggccaagg	16	7	9	9	1	0	2	0	0	0	2	0	3	0	2	4	3	2	1	4	3	7	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr15:50535347C>T	uc001zxz.3	-	10	1577	c.1235G>A	c.(1234-1236)cGt>cAt	p.R412H	HDC_uc001zxy.3_Missense_Mutation_p.R155H|HDC_uc010uff.2_Missense_Mutation_p.R379H	NM_002112	NP_002103	P19113	DCHS_HUMAN	Homo sapiens histidine decarboxylase (HDC), mRNA.	412					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	TACCTTTAGACGAAAAACCAC	0.483													T	50535347	C	T	50535347	3	4	43	1	0	0	0	0	1	0	0	0	7070	536	19	1	761	1	HDC	15	50535347	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		50535347	51996045	61	2674											
CACNG3	10368	broad.mit.edu	37	chr16	24358110	24358110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgaagatgctgactaCgaacaggacacagccgaata	14	7	9	11	2	0	3	0	2	0	1	1	6	1	4	2	1	4	1	2	1	5	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:24358110C>T	uc002dmf.3	+	1	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	89					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	p.Y89*(2)|p.D88Y(1)		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)		ATGCTGACTACGAACAGGACA	0.562													T	24358110	C	T	24358110	2	4	43	1	0	0	0	0	0	0	0	1	2584	547	19	1		1	CACNG3	16	24358110	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		24358110	65996643	62	2675											
OGFOD1	55239	broad.mit.edu	37	chr16	56510097	56510097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggtttctgggactttTcattcatctattatgaatga	11	16	8	6	0	4	2	2	2	2	0	4	4	4	3	0	2	1	1	0	2	4	6			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr16:56510097T>C	uc002ejb.3	+	12	1710	c.1609T>C	c.(1609-1611)Tca>Cca	p.S537P	OGFOD1_uc002ejc.3_Missense_Mutation_p.S397P	NM_018233	NP_060703	Q8N543	OGFD1_HUMAN	Homo sapiens 2-oxoglutarate and iron-dependent oxygenase domain containing 1 (OGFOD1), mRNA.	537							iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8					Vitamin C(DB00126)	CTGGGACTTTTCATTCATCTA	0.418													C	56510097	T	C	56510097	3	2	43	1	0	0	0	0	1	0	0	0	10917	1783	62	3	1659	3	OGFOD1	16	56510097	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	32151987	56510097	33844656	63	2676											
MYH2	4620	broad.mit.edu	37	chr17	10428349	10428349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaactcaagctggatgcGcaggatctttccctcttcat	8	13	8	12	1	5	0	3	0	2	0	6	2	6	2	1	2	3	3	1	2	2	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:10428349G>A	uc010coi.3	-	33	4824	c.4696C>T	c.(4696-4698)Cgc>Tgc	p.R1566C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1566C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1566					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGCTGGATGCGCAGGATCTTT	0.408													A	10428349	G	A	10428349	3	1	43	1	0	0	0	0	1	0	0	0	10111	1087	38	1	1157	1	MYH2	17	10428349	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		10428349	70766861	64	2677											
XYLT2	64132	broad.mit.edu	37	chr17	48433460	48433460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtccttcttccacacGgtgctggagaacagcctggc	7	10	11	13	1	1	1	0	0	1	1	3	2	3	1	3	3	4	2	3	3	1	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:48433460G>A	uc002iqo.3	+	6	1429	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	440					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTTCCACACGGTGCTGGAGA	0.617													A	48433460	G	A	48433460	2	1	43	1	0	0	0	0	0	0	0	1	17566	1103	39	1		1	XYLT2	17	48433460	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08	38005111	48433460	32761750	65	2678											
VEZF1	7716	broad.mit.edu	37	chr17	56060219	56060219	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgggagagcttgtgtcgaTtgagatggtacacatctcgg	10	11	14	6	2	1	2	0	1	1	2	3	5	1	2	0	3	2	2	0	3	2	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:56060219T>C	uc002ivf.1	-	1	712	c.569A>G	c.(568-570)aAt>aGt	p.N190S	VEZF1_uc010dcn.1_Missense_Mutation_p.N34S	NM_007146	NP_009077	Q14119	VEZF1_HUMAN	Homo sapiens vascular endothelial zinc finger 1 (VEZF1), mRNA.	190					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						CTTGTGTCGATTGAGATGGTA	0.483													C	56060219	T	C	56060219	3	2	43	1	0	0	0	0	1	0	0	0	17257	1493	52	3	1016	3	VEZF1	17	56060219	Missense_Mutation	SNP	T	TCGA-06-0209-01A-01D-1491-08	7626759	56060219	25134991	66	2679											
QRICH2	84074	broad.mit.edu	37	chr17	74276228	74276228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgggtccagctccaggCggtccagctgtggcggggaa	6	7	16	12	2	1	0	1	0	0	0	4	1	4	1	3	6	2	2	3	6	1	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr17:74276228C>T	uc002jrd.1	-	11	4316	c.4136G>A	c.(4135-4137)cGc>cAc	p.R1379H	QRICH2_uc010dgw.1_Missense_Mutation_p.R223H	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1379							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CAGCTCCAGGCGGTCCAGCTG	0.657													T	74276228	C	T	74276228	3	4	43	1	0	0	0	0	1	0	0	0	12968	768	27	1	887	1	QRICH2	17	74276228	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	18216009	74276228	6918982	67	2680											
DSG3	1830	broad.mit.edu	37	chr18	29038537	29038537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaacataacagctatagtcGaccgggaggaaactccaagc	15	7	9	10	2	0	0	0	0	0	0	2	3	1	2	2	2	5	1	2	2	6	4	rs137884016	byFrequency	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:29038537G>A	uc002kws.3	+	3	455	c.346G>A	c.(346-348)Gac>Aac	p.D116N		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	116	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGCTATAGTCGACCGGGAGGA	0.443													A	29038537	G	A	29038537	3	1	43	1	0	0	0	0	1	0	0	0	4817	1058	37	1	360	1	DSG3	18	29038537	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08		29038537	49038711	68	2681											
ALPK2	115701	broad.mit.edu	37	chr18	56203942	56203942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcttgtgcagcagatgtCgtaggcaaactttgttggaa	9	13	11	8	1	1	1	0	0	1	1	3	2	2	2	1	2	3	5	1	2	3	4			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr18:56203942C>T	uc002lhj.4	-	4	3691	c.3477G>A	c.(3475-3477)acG>acA	p.T1159T	ALPK2_uc002lhk.1_Silent_p.T490T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1159							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCAGATGTCGTAGGCAAAC	0.567													T	56203942	C	T	56203942	2	4	43	1	0	0	0	0	0	0	0	1	545	871	31	1		1	ALPK2	18	56203942	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08	27165405	56203942	21873306	69	2682											
MAP2K7	5609	broad.mit.edu	37	chr19	7975352	7975352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagcaaatgcggcgctcCgggaacaaggaggagaacaa	14	3	15	9	3	0	1	0	0	0	1	1	4	1	3	1	4	5	3	1	4	5	0			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:7975352C>T	uc002mit.3	+	4	527	c.462C>T	c.(460-462)tcC>tcT	p.S154S	MAP2K7_uc002miv.2_Silent_p.S154S|MAP2K7_uc010xka.1_Non-coding_Transcript|MAP2K7_uc010dvv.3_Silent_p.S29S|MAP2K7_uc010xkb.2_Silent_p.S154S	NM_145185	NP_660186	O14733	MP2K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 7 (MAP2K7), mRNA.	154	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGCGGCGCTCCGGGAACAAGG	0.632													T	7975352	C	T	7975352	2	4	43	1	0	0	0	0	0	0	0	1	9317	639	23	1		1	MAP2K7	19	7975352	Silent	SNP	C	TCGA-06-0209-01A-01D-1491-08		7975352	51153631	70	2683											
MUC16	94025	broad.mit.edu	37	chr19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggtgagatagttgtcGttgaaacagctgaactggct	11	12	12	6	1	1	3	1	3	0	1	2	4	1	3	0	2	3	4	0	2	4	4	rs111231164		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:9047027G>A	uc002mkp.3	-	4	34808	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7168M(1)|p.T11535M(1)		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						GATAGTTGTCGTTGAAACAGC	0.512													A	9047027	G	A	9047027	3	1	43	1	0	0	0	0	1	0	0	0	10049	1145	40	1	9239	1	MUC16	19	9047027	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	1071675	9047027	50081956	71	2684											
MRPS12	6183	broad.mit.edu	37	chr19	39423173	39423173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgcaagtgctgtcgagtgCggctcagcactggccgcgag	7	7	15	12	5	1	0	1	0	0	0	3	2	1	0	1	2	3	4	1	2	1	0	rs140018981	by1000genomes	TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:39423173C>T	uc002okc.3	+	2	560	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	SARS2_uc002ojz.2_5'Flank|SARS2_uc010xup.1_5'Flank|SARS2_uc002oka.2_5'Flank|SARS2_uc010xuq.1_Intron|SARS2_uc010xur.1_5'Flank|SARS2_uc010xus.1_5'Flank|MRPS12_uc002okd.3_Missense_Mutation_p.R84W|MRPS12_uc002oke.3_Missense_Mutation_p.R84W	NM_033362	NP_203527	O15235	RT12_HUMAN	Homo sapiens mitochondrial ribosomal protein S12 (MRPS12), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	84					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CTGTCGAGTGCGGCTCAGCAC	0.662													T	39423173	C	T	39423173	3	4	43	1	0	0	0	0	1	0	0	0	9899	759	27	1	256	1	MRPS12	19	39423173	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	30376146	39423173	19705810	72	2685											
ZNF546	339327	broad.mit.edu	37	chr19	40520966	40520969	+	Frame_Shift_Del	DEL	ACTC	ACTC	-																															ttagtcgtcgctataatcttActcaacattttaaaattcat																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:40520966_40520969delACTC	uc002oms.2	+	6	2045_2048	c.1789_1792delACTC	c.(1789-1794)actcaafs	p.T597fs	ZNF546_uc002omt.2_Frame_Shift_Del_p.T571fs	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTATAATCTTACTCAACATTTTAA	0.353													-	40520969	ACTC	-	40520966	7	5	43	1	0	1	0	1	0	0	0	0	18079	391	14	0	1807	0	ZNF546	19	40520966	Frame_Shift_Del	DEL	ACTC	TCGA-06-0209-01A-01D-1491-08	1097793	40520966	18608017	73	2686											
PSG5	5673	broad.mit.edu	37	chr19	43689122	43689122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaccgtctactacatatGatgtaatgtaatggtagagg	12	14	10	5	1	1	3	0	2	1	1	1	3	1	3	1	2	2	3	1	2	6	7			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:43689122G>A	uc002ovu.3	-	1	373	c.242C>T	c.(241-243)tCa>tTa	p.S81L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.S81L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	81	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				TACTACATATGATGTAATGTA	0.433													A	43689122	G	A	43689122	3	1	43	1	0	0	0	0	1	0	0	0	12743	1294	45	2	781	2	PSG5	19	43689122	Missense_Mutation	SNP	G	TCGA-06-0209-01A-01D-1491-08	3168156	43689122	15439861	74	2687											
XRCC1	7515	broad.mit.edu	37	chr19	44055781	44055781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacccactccttacgcaCgatgcggcctcccaggccta	8	6	8	19	3	0	0	0	0	0	0	2	1	2	0	5	2	3	2	5	2	2	2	rs2271980		TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr19:44055781C>T	uc002owt.2	-	9	1261	c.1141G>A	c.(1141-1143)Gtg>Atg	p.V381M	XRCC1_uc010xwp.1_Missense_Mutation_p.V350M	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	381	BRCT 1.				base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TCCTTACGCACGATGCGGCCT	0.622								Other BER factors					T	44055781	C	T	44055781	3	4	43	1	0	0	0	0	1	0	0	0	17554	536	19	1	792	1	XRCC1	19	44055781	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	366659	44055781	15073202	75	2688											
PIGU	128869	broad.mit.edu	37	chr20	33169458	33169460	+	In_Frame_Del	DEL	GAA	GAA	-																															acagcgatctggataaacatGaagaagatggggtgctccct																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:33169458_33169460delGAA	uc002xas.3	-	9	1143_1145	c.943_945delTTC	c.(943-945)ttcdel	p.F315del	PIGU_uc010zul.2_In_Frame_Del_p.F315del|PIGU_uc002xat.3_In_Frame_Del_p.F295del	NM_080476	NP_536724	Q9H490	PIGU_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class U (PIGU), mRNA.	315					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						GGATAAACATGAAGAAGATGGGG	0.562													-	33169460	GAA	-	33169458	7	5	43	1	0	1	0	1	0	0	0	0	11977	1281	45	0	374	0	PIGU	20	33169458	In_Frame_Del	DEL	GAA	TCGA-06-0209-01A-01D-1491-08		33169458	29856062	76	2689											
RBM38	55544	broad.mit.edu	37	chr20	55968365	55968365	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggtgcagcagctgcaccCcaccttgatccagcggactt	7	8	12	14	1	0	1	0	1	0	0	1	2	1	2	4	3	5	4	4	3	0	2			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr20:55968365C>G	uc010zzj.2	+	2	576	c.392C>G	c.(391-393)cCc>cGc	p.P131R	MIR5095_uc021wfc.1_Intron|RBM38_uc010zzk.2_Intron	NM_017495	NP_059965	Q9H0Z9	RBM38_HUMAN	Homo sapiens RNA binding motif protein 38 (RBM38), transcript variant 1, mRNA.	131					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CAGCTGCACCCCACCTTGATC	0.597													G	55968365	C	G	55968365	3	3	43	1	0	0	0	0	1	0	0	0	13220	623	22	4	161	4	RBM38	20	55968365	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	22798907	55968365	7057155	77	2690											
KRTAP19-4	337971	broad.mit.edu	37	chr21	31869311	31869311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccgttgcctccaaagcCacagccataacccagtctgc	11	8	6	16	1	1	0	0	0	1	0	3	0	3	0	6	0	5	1	6	0	3	3			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chr21:31869311C>T	uc011acz.2	-	0	118	c.118G>A	c.(118-120)Ggc>Agc	p.G40S		NM_181610	NP_853641	Q3LI73	KR194_HUMAN	Homo sapiens keratin associated protein 19-4 (KRTAP19-4), mRNA.	40						intermediate filament				central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCTCCAAAGCCACAGCCATAA	0.527													T	31869311	C	T	31869311	3	4	43	1	0	0	0	0	1	0	0	0	8589	594	21	2	139	2	KRTAP19-4	21	31869311	Missense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08		31869311	16260584	78	2691											
KIAA2022	340533	broad.mit.edu	37	chrX	73963609	73963609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttcactaataaaagtctcGaagtaaccccaatcctgatt	14	12	4	11	1	2	1	1	1	1	0	4	2	3	1	3	0	1	1	3	0	6	5			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:73963609G>A	uc004eby.3	-	2	1400	c.783C>T	c.(781-783)ttC>ttT	p.F261F		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	261					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TAAAAGTCTCGAAGTAACCCC	0.393													A	73963609	G	A	73963609	2	1	43	1	0	0	0	0	0	0	0	1	8327	1049	37	1		1	KIAA2022	23	73963609	Silent	SNP	G	TCGA-06-0209-01A-01D-1491-08		73963609	81306951	79	2692											
NRK	203447	broad.mit.edu	37	chrX	105152945	105152945	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggctcaggcacctcaaCgactacaaggggcagctcgg	10	4	14	13	2	2	0	2	0	0	0	3	1	2	0	1	6	3	5	1	6	3	1			TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:105152945C>T	uc004emd.3	+	12	1615	c.1312C>T	c.(1312-1314)Cga>Tga	p.R438*	NRK_uc010npc.1_Nonsense_Mutation_p.R106*	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	438	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTCAACGACTACAAGG	0.557										HNSCC(51;0.14)			T	105152945	C	T	105152945	4	4	43	1	0	0	0	0	0	1	0	0	10731	528	19	1	1362	1	NRK	23	105152945	Nonsense_Mutation	SNP	C	TCGA-06-0209-01A-01D-1491-08	31189336	105152945	50117615	80	2693											
SH2D1A	4068	broad.mit.edu	37	chrX	123504148	123504149	+	Frame_Shift_Ins	INS	-	-	A																															ttgagaagaagtcctcagctINSagaagtacacaaggtactac																										TCGA-06-0209-01A-01D-1491-08	TCGA-06-0209-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a7de67-14b6-4b8c-abbe-9eaa990d905e	dc506a4e-4b70-49ce-a3f8-beb81638a762	g.chrX:123504148_123504149insA	uc004euf.4	+	2	685_686	c.324_325insA	c.(322-327)gctagafs	p.A108fs	SH2D1A_uc004euh.4_Frame_Shift_Ins_p.A108fs|SH2D1A_uc004eug.4_Non-coding_Transcript|SH2D1A_uc010nqw.3_Non-coding_Transcript|SH2D1A_uc004eui.4_Non-coding_Transcript|SH2D1A_uc010nqx.3_Non-coding_Transcript	NM_002351	NP_002342	O60880	SH21A_HUMAN	Homo sapiens SH2 domain containing 1A (SH2D1A), transcript variant 1, mRNA.	108					cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AGTCCTCAGCTAGAAGTACACA	0.371													A	123504149	-	A	123504148	7	5	43	1	0	1	1	0	0	0	0	0	14323	1509	53	0	334	0	SH2D1A	23	123504148	Frame_Shift_Ins	INS	-	TCGA-06-0209-01A-01D-1491-08	18351203	123504148	31766412	81	2694											
COL8A2	1296	broad.mit.edu	37	chr1	36565672	36565672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggtactggcctttgccctCacggaagggcggtcccacag	7	7	13	14	2	1	0	1	0	0	0	2	1	2	1	3	5	2	1	3	5	2	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:36565672C>T	uc001bzv.2	-	0	179	c.172G>A	c.(172-174)Gag>Aag	p.E58K	COL8A2_uc001bzw.2_Intron	NM_005202	NP_005193	P25067	CO8A2_HUMAN	Homo sapiens collagen, type VIII, alpha 2 (COL8A2), mRNA.	58	Nonhelical region (NC2).				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCTTTGCCCTCACGGAAGGGC	0.662											OREG0013361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	36565672	C	T	36565672	3	4	44	1	0	0	0	0	1	0	0	0	3737	835	29	2	1947	2	COL8A2	1	36565672	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		36565672	212684949	1	2695											
CYP4A11	1579	broad.mit.edu	37	chr1	47406941	47406941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgaagagccagtgggaGggagggcacgggaactgctg	9	4	19	9	2	0	1	0	0	0	1	0	5	0	4	2	4	4	2	2	4	2	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:47406941G>A	uc001cqp.4	-	0	216	c.165C>T	c.(163-165)ccC>ccT	p.P55P	CYP4A11_uc001cqq.2_Silent_p.P55P|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	55					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GCCAGTGGGAGGGAGGGCACG	0.597													A	47406941	G	A	47406941	2	1	44	1	0	0	0	0	0	0	0	1	4216	987	35	2		2	CYP4A11	1	47406941	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	10841269	47406941	201843680	2	2696											
LHX8	431707	broad.mit.edu	37	chr1	75614357	75614357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacaggcttgagcagacGtgtgatacaggtgattactt	12	10	13	6	1	0	4	0	3	0	1	0	5	0	5	0	3	3	2	0	3	3	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:75614357G>A	uc001dgo.3	+	7	1464	c.800G>A	c.(799-801)cGt>cAt	p.R267H	LHX8_uc001dgq.3_Missense_Mutation_p.R206H	NM_001001933	NP_001001933	Q68G74	LHX8_HUMAN	Homo sapiens LIM homeobox 8 (LHX8), transcript variant 1, mRNA.	267						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						TTGAGCAGACGTGTGATACAG	0.383													A	75614357	G	A	75614357	3	1	44	1	0	0	0	0	1	0	0	0	8836	1145	40	1	826	1	LHX8	1	75614357	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	28207416	75614357	173636264	3	2697											
MCOLN2	255231	broad.mit.edu	37	chr1	85422200	85422200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcttacagacttttaagCcaattctattgtcttcattt	9	18	5	9	0	3	1	1	0	2	1	3	1	3	1	1	0	3	2	1	0	4	8			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:85422200C>T	uc001dkm.3	-	3	720	c.479G>A	c.(478-480)gGc>gAc	p.G160D	MCOLN2_uc001dkn.3_Non-coding_Transcript	NM_153259	NP_694991	Q8IZK6	MCLN2_HUMAN	Homo sapiens mucolipin 2 (MCOLN2), mRNA.	160						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		GACTTTTAAGCCAATTCTATT	0.373													T	85422200	C	T	85422200	3	4	44	1	0	0	0	0	1	0	0	0	9471	739	26	2	1265	2	MCOLN2	1	85422200	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	9807843	85422200	163828421	4	2698											
COL24A1	255631	broad.mit.edu	37	chr1	86289377	86289379	+	In_Frame_Del	DEL	TTG	TTG	-																															tcaaaacatactgggggtccTtgttgtccagtggcacctct																										TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:86289377_86289379delTTG	uc001dlj.3	-	43	3799_3801	c.3724_3726delCAA	c.(3724-3726)caadel	p.Q1242del	COL24A1_uc001dli.3_In_Frame_Del_p.Q378del|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_In_Frame_Del_p.Q542del|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1242	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTGGGGGTCCTTGTTGTCCAGTG	0.34													-	86289379	TTG	-	86289377	7	5	44	1	0	1	0	1	0	0	0	0	3714	1606	56	0	1486	0	COL24A1	1	86289377	In_Frame_Del	DEL	TTG	TCGA-06-0213-01A-01D-1491-08	867177	86289377	162961244	5	2699											
ACP6	51205	broad.mit.edu	37	chr1	147131584	147131584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcttcctcagtctctctcCcaaggcaaacatttgctgca	8	13	6	14	0	4	0	1	0	3	0	7	0	5	0	2	1	3	4	2	1	2	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:147131584C>T	uc001epr.2	-	2	870	c.406G>A	c.(406-408)Gga>Aga	p.G136R	ACP6_uc009wjj.1_Missense_Mutation_p.G93R	NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	136					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					AGTCTCTCTCCCAAGGCAAAC	0.483													T	147131584	C	T	147131584	3	4	44	1	0	0	0	0	1	0	0	0	165	632	22	2	912	2	ACP6	1	147131584	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	60842207	147131584	102119037	6	2700											
FLG	2312	broad.mit.edu	37	chr1	152275520	152275520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actagaactgtgaggactgcCacgtgactgtattcctgagt	10	11	11	9	1	0	4	0	3	0	1	1	5	1	5	2	1	2	1	2	1	3	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:152275520C>A	uc001ezu.1	-	2	11878	c.11842G>T	c.(11842-11844)Ggc>Tgc	p.G3948C		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3948	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGGACTGCCACGTGACTGT	0.438									Ichthyosis				A	152275520	C	A	152275520	3	1	44	1	0	0	0	0	1	0	0	0	5971	594	21	4	347	4	FLG	1	152275520	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5143936	152275520	96975101	7	2701											
SH2D1B	117157	broad.mit.edu	37	chr1	162368720	162368720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagagattttaccacaaatGtttccaactctaatttcaat	14	15	4	8	0	2	2	1	1	1	1	3	3	3	2	2	0	2	1	2	0	5	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:162368720G>A	uc001gbz.1	-	2	478	c.356C>T	c.(355-357)aCa>aTa	p.T119I	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	119								p.T119T(1)		kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TACCACAAATGTTTCCAACTC	0.393													A	162368720	G	A	162368720	3	1	44	1	0	0	0	0	1	0	0	0	14324	1377	48	2	50	2	SH2D1B	1	162368720	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	10093200	162368720	86881901	8	2702											
MYOC	4653	broad.mit.edu	37	chr1	171621317	171621317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaactgacttgtctcggagGaggttgctgtaggcagtctc	8	11	14	8	1	2	2	0	1	2	1	4	4	2	4	0	4	2	4	0	4	2	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:171621317G>T	uc001ghu.3	-	0	457	c.435C>A	c.(433-435)ctC>ctA	p.L145L	MYOC_uc010pmk.2_Silent_p.L87L	NM_000261	NP_000252	Q99972	MYOC_HUMAN	Homo sapiens myocilin, trabecular meshwork inducible glucocorticoid response (MYOC), mRNA.	145					anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGTCTCGGAGGAGGTTGCTGT	0.577													T	171621317	G	T	171621317	2	4	44	1	0	0	0	0	0	0	0	1	10162	1161	41	4		4	MYOC	1	171621317	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	9252597	171621317	77629304	9	2703											
RBBP5	5929	broad.mit.edu	37	chr1	205065948	205065948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggtttggactgcatccgGtggggggccgtaaggatttt	6	11	18	6	2	0	0	0	0	0	0	1	3	1	3	2	8	1	3	2	8	1	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:205065948G>A	uc010prd.2	-	10	1644	c.1363C>T	c.(1363-1365)Ccg>Tcg	p.P455S	RBBP5_uc010pre.2_Missense_Mutation_p.P293S|RBBP5_uc001hbu.2_Missense_Mutation_p.P420S|RBBP5_uc001hbv.2_Missense_Mutation_p.P420S	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	420					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			ACTGCATCCGGTGGGGGGCCG	0.498													A	205065948	G	A	205065948	3	1	44	1	0	0	0	0	1	0	0	0	13190	1261	44	2	370	2	RBBP5	1	205065948	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	33444631	205065948	44184673	10	2704											
SYT14	255928	broad.mit.edu	37	chr1	210267700	210267700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgagaagaacaccccCgctggatgaattgcagccac	14	5	11	11	1	0	4	0	2	0	3	0	7	0	5	3	1	3	2	3	1	4	1	rs77686387	by1000genomes	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr1:210267700C>T	uc001hhs.4	+	5	669	c.611C>T	c.(610-612)cCg>cTg	p.P204L	SYT14_uc001hht.4_Missense_Mutation_p.P159L|SYT14_uc010psn.2_Missense_Mutation_p.P204L|SYT14_uc001hhu.4_Non-coding_Transcript|SYT14_uc010pso.2_Missense_Mutation_p.P121L|SYT14_uc009xcv.3_Missense_Mutation_p.P159L	NM_001146261	NP_001139733	Q8NB59	SYT14_HUMAN	Homo sapiens synaptotagmin XIV (SYT14), transcript variant 1, mRNA.	159						integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		AGAACACCCCCGCTGGATGAA	0.428													T	210267700	C	T	210267700	3	4	44	1	0	0	0	0	1	0	0	0	15567	652	23	1	633	1	SYT14	1	210267700	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5201752	210267700	38982921	11	2705											
GREB1	9687	broad.mit.edu	37	chr2	11706613	11706613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacccctcctagggttttgCcaggccgggaaggacctgcg	6	7	13	15	2	0	0	0	0	0	0	1	2	1	2	7	4	2	1	7	4	2	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:11706613C>T	uc002rbk.1	+	3	585	c.285C>T	c.(283-285)tgC>tgT	p.C95C	GREB1_uc002rbl.3_Silent_p.C95C|GREB1_uc002rbm.3_5'UTR|GREB1_uc002rbn.1_Silent_p.C95C	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	95						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TAGGGTTTTGCCAGGCCGGGA	0.642													T	11706613	C	T	11706613	2	4	44	1	0	0	0	0	0	0	0	1	6815	747	26	2		2	GREB1	2	11706613	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		11706613	231492760	12	2706											
BUB1	699	broad.mit.edu	37	chr2	111408233	111408233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcagtgtctgtgagtctgCaagcctcaacgcccaactct	8	10	9	14	2	5	1	2	1	3	0	5	1	5	1	2	0	4	1	2	0	3	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:111408233C>T	uc002tgc.3	-	17	2205	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	BUB1_uc010yxh.2_Missense_Mutation_p.C678Y|BUB1_uc010fkb.3_Missense_Mutation_p.C698Y	NM_004336	NP_004327	O43683	BUB1_HUMAN	Homo sapiens budding uninhibited by benzimidazoles 1 homolog (yeast) (BUB1), mRNA.	698					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGTGAGTCTGCAAGCCTCAAC	0.532													T	111408233	C	T	111408233	3	4	44	1	0	0	0	0	1	0	0	0	1580	710	25	2	1196	2	BUB1	2	111408233	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	99701620	111408233	131791140	13	2707											
SCN9A	6335	broad.mit.edu	37	chr2	167055444	167055444	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttgccttaagcggtaaCgtctataagcacgctgaatg	11	12	9	9	3	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	5	6			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:167055444C>G	uc010fpl.3	-	26	6013	c.5672G>C	c.(5671-5673)cGt>cCt	p.R1891P	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1902	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAGCGGTAACGTCTATAAGC	0.363													G	167055444	C	G	167055444	3	3	44	1	0	0	0	0	1	0	0	0	14018	536	19	4	265	4	SCN9A	2	167055444	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	55647211	167055444	76143929	14	2708											
COL3A1	1281	broad.mit.edu	37	chr2	189868848	189868848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccaggagagaagggatcGcctggtgcccagggcccacc	10	3	14	14	1	0	1	0	0	0	1	1	4	0	3	5	4	2	0	5	4	2	0	rs113870310		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:189868848G>A	uc002uqj.1	+	38	2919	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	934	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	p.S934S(2)		NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGAAGGGATCGCCTGGTGCCC	0.488													A	189868848	G	A	189868848	2	1	44	1	0	0	0	0	0	0	0	1	3719	1074	38	1		1	COL3A1	2	189868848	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	22813404	189868848	53330525	15	2709											
NBEAL1	65065	broad.mit.edu	37	chr2	204037528	204037528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatttcgagatctttccaAaccaattggggtagttaatg	11	15	9	6	1	1	1	0	0	1	1	3	2	2	1	2	2	1	3	2	2	5	6			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr2:204037528A>G	uc002uzt.3	+	39	6521	c.6188A>G	c.(6187-6189)aAa>aGa	p.K2063R	NBEAL1_uc021vvj.1_Missense_Mutation_p.K766R	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	2063	BEACH.						binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GATCTTTCCAAACCAATTGGG	0.328													G	204037528	A	G	204037528	3	3	44	1	0	0	0	0	1	0	0	0	10264	14	1	3	6342	3	NBEAL1	2	204037528	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	14168680	204037528	39161845	16	2710											
FGD5	152273	broad.mit.edu	37	chr3	14960268	14960268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggttttccaggtcagccGccctgtgatggagaaagtgc	7	11	14	9	1	1	2	1	1	0	1	2	3	2	2	3	3	2	2	3	3	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:14960268G>A	uc003bzc.3	+	12	3607	c.3497G>A	c.(3496-3498)cGc>cAc	p.R1166H	FGD5_uc011avk.2_Missense_Mutation_p.R1166H|FGD5_uc003bzd.3_Missense_Mutation_p.R244H	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1166	PH 1.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGTCAGCCGCCCTGTGATG	0.602													A	14960268	G	A	14960268	3	1	44	1	0	0	0	0	1	0	0	0	5885	1087	38	1	3547	1	FGD5	3	14960268	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		14960268	183062162	17	2711											
OR5AC2	81050	broad.mit.edu	37	chr3	97806681	97806681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcataatctcttatactcGtgtgctctttgatattctga	9	19	5	8	1	4	2	1	2	3	0	6	2	4	2	0	0	2	1	0	0	5	7			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:97806681G>A	uc011bgs.2	+	0	665	c.665G>A	c.(664-666)cGt>cAt	p.R222H		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TCTTATACTCGTGTGCTCTTT	0.373													A	97806681	G	A	97806681	3	1	44	1	0	0	0	0	1	0	0	0	11217	1145	40	1	667	1	OR5AC2	3	97806681	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	82846413	97806681	100215749	18	2712											
DTX3L	151636	broad.mit.edu	37	chr3	122289489	122289489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggaatgatattcaccAcaaaacatcccggtttggag	13	10	8	10	1	1	1	1	1	0	0	2	3	2	3	2	3	1	1	2	3	4	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr3:122289489A>G	uc003efk.3	+	3	2212	c.2123A>G	c.(2122-2124)cAc>cGc	p.H708R	DTX3L_uc010hrj.3_Missense_Mutation_p.H196R|DTX3L_uc021xdb.1_3'UTR	NM_138287	NP_612144	Q8TDB6	DTX3L_HUMAN	Homo sapiens deltex 3-like (Drosophila) (DTX3L), mRNA.	708					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GATATTCACCACAAAACATCC	0.423													G	122289489	A	G	122289489	3	3	44	1	0	0	0	0	1	0	0	0	4835	159	6	3	2137	3	DTX3L	3	122289489	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	24482808	122289489	75732941	19	2713											
PDGFRA	5156	broad.mit.edu	37	chr4	55156661	55156661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagtggctacatcattcCtctgcctgacattgaccctg	8	12	8	13	0	2	3	1	3	1	0	3	3	3	3	3	1	2	1	3	1	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:55156661C>T	uc003han.4	+	21	3393	c.3062C>T	c.(3061-3063)cCt>cTt	p.P1021L	PDGFRA_uc003haa.3_Missense_Mutation_p.P781L	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	1021					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TACATCATTCCTCTGCCTGAC	0.562			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55156661	C	T	55156661	3	4	44	1	0	0	0	0	1	0	0	0	11737	681	24	2	3144	2	PDGFRA	4	55156661	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		55156661	135997615	20	2714											
FSTL5	56884	broad.mit.edu	37	chr4	162697175	162697175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatttttgattttgtaaaTctaatagcatatttttcatc	12	22	3	4	0	2	1	1	1	1	0	3	1	2	1	0	0	1	2	0	0	7	12			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr4:162697175T>C	uc003iqh.3	-	4	897	c.461A>G	c.(460-462)gAt>gGt	p.D154G	FSTL5_uc003iqi.3_Missense_Mutation_p.D153G|FSTL5_uc010iqv.3_Missense_Mutation_p.D153G	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	154						extracellular region	calcium ion binding	p.L153S(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		ATTTTGTAAATCTAATAGCAT	0.279													C	162697175	T	C	162697175	3	2	44	1	0	0	0	0	1	0	0	0	6132	1435	50	3	2130	3	FSTL5	4	162697175	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08	107540514	162697175	28457101	21	2715											
CHSY3	337876	broad.mit.edu	37	chr5	129243856	129243856	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggggaatattgaagagCttggaaagctgggactggag	11	8	17	5	0	0	2	0	1	0	1	0	6	0	6	1	5	2	2	1	5	4	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:129243856C>G	uc003kvd.3	+	1	889	c.889C>G	c.(889-891)Ctt>Gtt	p.L297V		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	297						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TATTGAAGAGCTTGGAAAGCT	0.473													G	129243856	C	G	129243856	3	3	44	1	0	0	0	0	1	0	0	0	3443	797	28	4	895	4	CHSY3	5	129243856	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		129243856	51671404	22	2716											
SLIT3	6586	broad.mit.edu	37	chr5	168175347	168175347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcctctggggagggcgcGgagccccttgttgctgcatc	4	9	15	13	2	1	0	0	0	1	0	2	2	1	2	3	4	4	3	3	4	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr5:168175347G>A	uc010jjg.3	-	19	2650	c.2230C>T	c.(2230-2232)Cgc>Tgc	p.R744C	SLIT3_uc003mab.3_Missense_Mutation_p.R744C	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	744	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R744S(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGAGGGCGCGGAGCCCCTTG	0.632													A	168175347	G	A	168175347	3	1	44	1	0	0	0	0	1	0	0	0	14835	1116	39	1	2409	1	SLIT3	5	168175347	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	38931491	168175347	12739913	23	2717											
PSORS1C1	170679	broad.mit.edu	37	chr6	31106528	31106528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttaatcctgaccgacttTgccacatggagccagcaaac	12	8	8	13	2	0	1	0	1	0	0	1	3	1	2	4	1	4	2	4	1	2	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:31106528T>C	uc003nsl.2	+	4	428	c.139T>C	c.(139-141)Tgc>Cgc	p.C47R	PSORS1C1_uc010jsj.2_Intron|PSORS1C1_uc003nsn.2_Intron|PSORS1C2_uc003nso.4_Intron	NM_014068	NP_054787	Q9UIG5	PS1C1_HUMAN	Homo sapiens psoriasis susceptibility 1 candidate 1 (PSORS1C1), mRNA.	47										kidney(1)|ovary(2)|prostate(1)|skin(1)	5						TGACCGACTTTGCCACATGGA	0.557													C	31106528	T	C	31106528	3	2	44	1	0	0	0	0	1	0	0	0	12799	1812	63	3	149	3	PSORS1C1	6	31106528	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08		31106528	140008539	24	2718											
MRAP2	112609	broad.mit.edu	37	chr6	84799086	84799086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtttgacatccccaaCtttgtgaacacagaccagaa	15	9	7	10	0	0	5	0	3	0	2	1	5	1	5	3	0	2	1	3	0	4	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:84799086C>A	uc003pkg.4	+	3	694	c.504C>A	c.(502-504)aaC>aaA	p.N168K	MRAP2_uc010kbo.3_Missense_Mutation_p.N82K	NM_138409	NP_612418	Q96G30	MRAP2_HUMAN	Homo sapiens melanocortin 2 receptor accessory protein 2 (MRAP2), mRNA.	168					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						ACATCCCCAACTTTGTGAACA	0.502													A	84799086	C	A	84799086	3	1	44	1	0	0	0	0	1	0	0	0	9830	564	20	4	514	4	MRAP2	6	84799086	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	53692558	84799086	86315981	25	2719											
ULBP1	80329	broad.mit.edu	37	chr6	150291168	150291168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagaaccaccctctctggcCccaggcacaacccaacccaa	12	4	5	20	0	2	1	1	0	1	1	3	1	2	1	6	2	3	1	6	2	4	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:150291168C>T	uc003qnp.3	+	3	685	c.642C>T	c.(640-642)gcC>gcT	p.A214A		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	214					antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	p.A214A(2)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		CCTCTCTGGCCCCAGGCACAA	0.562													T	150291168	C	T	150291168	2	4	44	1	0	0	0	0	0	0	0	1	17074	610	22	2		2	ULBP1	6	150291168	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	65492082	150291168	20823899	26	2720											
PACRG	135138	broad.mit.edu	37	chr6	163235289	163235289	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgcccttgagcatgattcGaaaggaaacaaaatcgcctg	14	9	9	9	2	0	2	0	2	0	0	2	4	0	3	2	1	3	1	2	1	4	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr6:163235289G>A	uc003qua.3	+	2	491	c.267G>A	c.(265-267)tcG>tcA	p.S89S	PACRG_uc003qub.3_Silent_p.S89S|PACRG_uc003quc.3_Silent_p.S89S	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	89										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AGCATGATTCGAAAGGAAACA	0.517													A	163235289	G	A	163235289	2	1	44	1	0	0	0	0	0	0	0	1	11446	1045	37	1		1	PACRG	6	163235289	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	12944121	163235289	7879778	27	2721											
NPSR1	387129	broad.mit.edu	37	chr7	34698051	34698051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaacttcacagagggcagCttcgattccagtgggaccgg	9	7	13	12	2	1	1	1	0	0	1	3	3	2	2	3	3	2	2	3	3	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:34698051C>A	uc003teh.1	+	0	155	c.27C>A	c.(25-27)agC>agA	p.S9R	NPSR1-AS1_uc010kwo.2_Intron|NPSR1-AS1_uc010kwp.2_Intron|NPSR1-AS1_uc003tdz.3_Intron|NPSR1-AS1_uc010kwq.2_Intron|NPSR1-AS1_uc003teb.1_Intron|NPSR1-AS1_uc011kaq.1_Intron|NPSR1_uc003teg.1_Missense_Mutation_p.S9R|NPSR1_uc010kwt.1_5'UTR|NPSR1_uc010kwu.1_5'UTR|NPSR1_uc010kwv.1_Missense_Mutation_p.S9R|NPSR1_uc003tei.1_Missense_Mutation_p.S9R|NPSR1_uc010kww.1_Missense_Mutation_p.S9R|NPSR1_uc011kar.1_Missense_Mutation_p.S9R	NM_207173	NP_997056	Q6W5P4	NPSR1_HUMAN	Homo sapiens neuropeptide S receptor 1 (NPSR1), transcript variant 2, mRNA.	9						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAGAGGGCAGCTTCGATTCCA	0.572													A	34698051	C	A	34698051	3	1	44	1	0	0	0	0	1	0	0	0	10676	796	28	4	29	4	NPSR1	7	34698051	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		34698051	124440612	28	2722											
WBSCR17	64409	broad.mit.edu	37	chr7	70597924	70597924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgagatccggccgcgcGccgaggtggccaacctcagc	7	4	13	17	6	1	1	1	0	0	1	3	3	3	1	6	3	2	0	6	3	1	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:70597924G>A	uc003tvy.3	+	0	136	c.136G>A	c.(136-138)Gcc>Acc	p.A46T		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	46						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R45H(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCGCGCGCCGAGGTGGC	0.677													A	70597924	G	A	70597924	3	1	44	1	0	0	0	0	1	0	0	0	17366	1087	38	1	138	1	WBSCR17	7	70597924	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	35899873	70597924	88540739	29	2723											
SRCRB4D	136853	broad.mit.edu	37	chr7	76033702	76033702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatctcccaacctccaccCccagcgcttctcatccagct	7	8	3	23	1	2	0	1	0	2	0	6	0	4	0	7	0	3	2	7	0	1	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:76033702C>T	uc003ufb.3	-	1	403	c.55G>A	c.(55-57)Ggg>Agg	p.G19R	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	19						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AACCTCCACCCCCAGCGCTTC	0.597													T	76033702	C	T	76033702	3	4	44	1	0	0	0	0	1	0	0	0	15233	623	22	2	1712	2	SRCRB4D	7	76033702	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	5435778	76033702	83104961	30	2724											
RELN	5649	broad.mit.edu	37	chr7	103417022	103417022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctccttgttcacacaactGctgggctaaagcatctttga	10	12	7	12	0	2	1	1	1	1	0	3	1	3	1	2	1	3	4	2	1	3	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:103417022G>A	uc022ajr.1	-	3	686	c.526C>T	c.(526-528)Cag>Tag	p.Q176*	RELN_uc022ajq.1_Nonsense_Mutation_p.Q176*|RELN_uc010liz.3_Nonsense_Mutation_p.Q176*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	176	Reelin.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCACACAACTGCTGGGCTAAA	0.403													A	103417022	G	A	103417022	4	1	44	1	0	0	0	0	0	1	0	0	13308	1328	46	2	10104	2	RELN	7	103417022	Nonsense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	27383320	103417022	55721641	31	2725											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432019	117432019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctatgcctggtgtttGagcggtgggaggggcagcgt	6	9	20	6	2	0	1	0	1	0	0	0	3	0	3	1	6	4	3	1	6	1	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr7:117432019G>T	uc003vjf.3	-	3	1323	c.1231C>A	c.(1231-1233)Caa>Aaa	p.Q411K		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	411	Pro-rich.									breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CCTGGTGTTTGAGCGGTGGGA	0.522													T	117432019	G	T	117432019	3	4	44	1	0	0	0	0	1	0	0	0	4078	1299	45	4	3840	4	CTTNBP2	7	117432019	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	14014997	117432019	41706644	32	2726											
GALT	2592	broad.mit.edu	37	chr9	34648454	34648454	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggagctactcaggaagGtgggagagagccaagccctg	11	4	16	10	0	1	1	1	0	0	1	1	5	1	4	3	4	4	1	3	4	3	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:34648454G>A	uc003zve.3	+	7	754	c.687_splice	c.e7+1	p.K229_splice	GALT_uc003zvf.3_Splice_Site_p.K120_splice|GALT_uc011lop.1_Splice_Site_p.K181_splice|IL11RA_uc003zvi.3_5'Flank	NM_000155	NP_000146	P07902	GALT_HUMAN	Homo sapiens galactose-1-phosphate uridylyltransferase (GALT), mRNA.	229			K -> N (in GALCT).		galactose catabolic process	cytosol	UDP-glucose:hexose-1-phosphate uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|liver(2)|lung(5)|upper_aerodigestive_tract(1)	16	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		ACTCAGGAAGGTGGGAGAGAG	0.532									Galactosemia				A	34648454	G	A	34648454	5	1	44	1	0	0	0	0	0	0	1	0	6284	1275	44	2	714	2	GALT	9	34648454	Splice_Site	SNP	G	TCGA-06-0213-01A-01D-1491-08		34648454	106564977	33	2727											
TDRD7	23424	broad.mit.edu	37	chr9	100245441	100245441	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccacctcctgtccacttatCaaagccaggggaacacatgg	11	7	9	14	0	1	0	1	0	0	0	3	1	3	1	5	3	2	0	5	3	3	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:100245441C>G	uc004axj.3	+	14	2948	c.2723C>G	c.(2722-2724)tCa>tGa	p.S908*	TDRD7_uc011lux.2_Nonsense_Mutation_p.S834*|TDRD7_uc010msp.1_Nonsense_Mutation_p.S160*|TDRD7_uc011luy.2_Nonsense_Mutation_p.S228*	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	908	Interacts with CABLES1 (By similarity).|Interacts with CDK17 (By similarity).				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				GTCCACTTATCAAAGCCAGGG	0.498													G	100245441	C	G	100245441	4	3	44	1	0	0	0	0	0	1	0	0	15835	838	29	4	2777	4	TDRD7	9	100245441	Nonsense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	65596987	100245441	40967990	34	2728											
TNFSF15	9966	broad.mit.edu	37	chr9	117552981	117552981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagtctggcttgtttggtcgGcctgcttgtctgatttcact	3	17	12	9	1	3	1	1	1	2	0	4	2	3	1	1	3	1	3	1	3	0	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr9:117552981G>A	uc004bjh.3	-	3	623	c.507C>T	c.(505-507)ggC>ggT	p.G169G	TNFSF15_uc004bjg.3_Silent_p.G110G	NM_005118	NP_005109	O95150	TNF15_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 15 (TNFSF15), transcript variant 1, mRNA.	169					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTTTGGTCGGCCTGCTTGTC	0.527													A	117552981	G	A	117552981	2	1	44	1	0	0	0	0	0	0	0	1	16408	1190	42	2		2	TNFSF15	9	117552981	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	17307540	117552981	23660450	35	2729											
MPP7	143098	broad.mit.edu	37	chr10	28420514	28420514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctctatttttgaccagaCggattatttttactgagtct	8	19	7	7	1	2	3	0	2	2	1	3	4	2	4	1	1	1	1	1	1	3	8			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:28420514C>T	uc001iua.1	-	7	826	c.422G>A	c.(421-423)cGt>cAt	p.R141H	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Missense_Mutation_p.R141H|MPP7_uc009xla.2_Missense_Mutation_p.R141H|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	141	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R141H(2)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTTGACCAGACGGATTATTTT	0.423													T	28420514	C	T	28420514	3	4	44	1	0	0	0	0	1	0	0	0	9815	536	19	1	1356	1	MPP7	10	28420514	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		28420514	107114233	36	2730											
ZNF239	8187	broad.mit.edu	37	chr10	44052995	44052995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagttattatggtcacagGgtttctcctctgtatgagct	8	15	9	9	0	3	1	1	1	2	0	4	1	3	1	1	2	1	4	1	2	3	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:44052995G>T	uc001jaw.4	-	1	1186	c.533C>A	c.(532-534)cCc>cAc	p.P178H	ZNF239_uc001jax.4_Missense_Mutation_p.P178H|ZNF239_uc009xmj.3_Missense_Mutation_p.P178H|ZNF239_uc009xmk.3_Missense_Mutation_p.P178H|ZNF239_uc021pph.1_Missense_Mutation_p.P178H	NM_005674	NP_005665	Q16600	ZN239_HUMAN	Homo sapiens zinc finger protein 239 (ZNF239), transcript variant 1, mRNA.	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|RNA binding|zinc ion binding			endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATGGTCACAGGGTTTCTCCTC	0.428													T	44052995	G	T	44052995	3	4	44	1	0	0	0	0	1	0	0	0	17892	1232	43	4	847	4	ZNF239	10	44052995	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	15632481	44052995	91481752	37	2731											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720852	C	T	89720852	4	4	44	1	0	0	0	0	0	1	0	0	12823	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	45667857	89720852	45813895	38	2732											
KNDC1	85442	broad.mit.edu	37	chr10	135038289	135038289	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcggtgccgacatttcCacactcgccgcagatagcag	9	8	10	14	4	1	1	1	0	0	1	3	2	2	1	3	1	3	2	3	1	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr10:135038289C>G	uc001llz.1	+	29	5146	c.5145C>G	c.(5143-5145)tcC>tcG	p.S1715S		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1715	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCGACATTTCCACACTCGCCG	0.582													G	135038289	C	G	135038289	2	3	44	1	0	0	0	0	0	0	0	1	8484	581	21	4		4	KNDC1	10	135038289	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	45317437	135038289	496458	39	2733											
OR5L2	26338	broad.mit.edu	37	chr11	55594994	55594994	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctagggtgcatggtgcaAttctacttgttttgcacatg	7	16	10	8	0	1	0	0	0	1	0	2	0	2	0	1	2	4	4	1	2	3	7			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:55594994A>G	uc001nhy.1	+	0	300	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100R(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCATGGTGCAATTCTACTTGT	0.473										HNSCC(27;0.073)			G	55594994	A	G	55594994	2	3	44	1	0	0	0	0	0	0	0	1	11247	98	4	3		3	OR5L2	11	55594994	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08		55594994	79411522	40	2734											
GLYATL1	92292	broad.mit.edu	37	chr11	58723492	58723492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctacccacagaatctagttCcattttagacaatgaagctg	13	11	7	10	0	1	3	0	1	1	2	2	3	2	3	2	0	2	3	2	0	6	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:58723492C>T	uc001nnh.2	+	6	1044	c.994C>T	c.(994-996)Cca>Tca	p.P332S	GLYATL1_uc001nnf.3_Missense_Mutation_p.P301S|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Missense_Mutation_p.P301S|GLYATL1_uc001nnj.2_Missense_Mutation_p.P301S	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	301						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	GAATCTAGTTCCATTTTAGAC	0.418													T	58723492	C	T	58723492	3	4	44	1	0	0	0	0	1	0	0	0	6536	855	30	2	1020	2	GLYATL1	11	58723492	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	3128498	58723492	76283024	41	2735											
FAT3	120114	broad.mit.edu	37	chr11	92532317	92532317	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccctttgaccgtgaagaAcaagagttatatgagctggt	11	11	11	8	1	0	5	0	3	0	2	1	5	1	5	3	1	2	2	3	1	5	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:92532317A>G	uc001pdj.4	+	8	6155	c.6138A>G	c.(6136-6138)gaA>gaG	p.E2046E		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2046	Cadherin 18.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ACCGTGAAGAACAAGAGTTAT	0.463										TCGA Ovarian(4;0.039)			G	92532317	A	G	92532317	2	3	44	1	0	0	0	0	0	0	0	1	5740	40	2	3		3	FAT3	11	92532317	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08	33808825	92532317	42474199	42	2736											
TTC12	54970	broad.mit.edu	37	chr11	113233171	113233171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcctctctgaaaattGttgaggaggccttgcgagca	8	14	10	9	1	2	2	0	2	2	0	4	4	3	3	2	2	2	2	2	2	2	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:113233171G>A	uc001pnv.3	+	18	1786	c.1681G>A	c.(1681-1683)Gtt>Att	p.V561I	TTC12_uc001pnu.3_Missense_Mutation_p.V555I|TTC12_uc001pnw.3_Non-coding_Transcript|TTC12_uc001pnx.3_Missense_Mutation_p.V405I	NM_017868	NP_060338	Q9H892	TTC12_HUMAN	Homo sapiens tetratricopeptide repeat domain 12 (TTC12), mRNA.	555							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TCTGAAAATTGTTGAGGAGGC	0.428													A	113233171	G	A	113233171	3	1	44	1	0	0	0	0	1	0	0	0	16781	1377	48	2	1733	2	TTC12	11	113233171	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	20700854	113233171	21773345	43	2737											
SRPR	6734	broad.mit.edu	37	chr11	126137085	126137085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgccttccttcttggcccCcttttttttgctattctttg	1	22	5	13	0	2	0	0	0	2	0	3	0	3	0	4	1	2	1	4	1	1	11			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:126137085C>G	uc001qdh.3	-	3	689	c.511G>C	c.(511-513)Ggg>Cgg	p.G171R	SRPR_uc010sbm.2_Missense_Mutation_p.G143R|FOXRED1_uc001qdi.3_5'Flank|FOXRED1_uc010sbn.2_5'Flank|FOXRED1_uc010sbq.2_5'Flank|FOXRED1_uc010sbo.2_5'Flank|FOXRED1_uc010sbp.2_5'Flank|FOXRED1_uc010sbr.2_5'Flank	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	171					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	p.K170fs*33(2)|p.K170K(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TTCTTGGCCCCCTTTTTTTTG	0.438													G	126137085	C	G	126137085	3	3	44	1	0	0	0	0	1	0	0	0	15258	623	22	4	1449	4	SRPR	11	126137085	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	12903914	126137085	8869431	44	2738											
ACAD8	27034	broad.mit.edu	37	chr11	134129623	134129623	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacccctggcctcagctttgGcaagaaggagaaaaaggtga	13	6	13	9	0	1	3	1	1	0	2	1	5	1	3	3	4	1	2	3	4	4	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr11:134129623G>T	uc001qhk.3	+	5	750	c.689G>T	c.(688-690)gGc>gTc	p.G230V	ACAD8_uc009zdc.3_3'UTR|ACAD8_uc010sco.1_Missense_Mutation_p.G132V|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.G153V|ACAD8_uc001qhl.3_Missense_Mutation_p.G103V|ACAD8_uc010scr.1_Missense_Mutation_p.G192V|ACAD8_uc009zde.1_Missense_Mutation_p.G103V	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	230					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CTCAGCTTTGGCAAGAAGGAG	0.517													T	134129623	G	T	134129623	3	4	44	1	0	0	0	0	1	0	0	0	110	1203	42	4	711	4	ACAD8	11	134129623	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	7992538	134129623	876893	45	2739											
CD163L1	283316	broad.mit.edu	37	chr12	7586265	7586265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaccgtctccattgacCagcctcaactccaaatctgt	10	9	7	15	1	3	1	1	1	2	0	5	2	4	2	5	1	2	0	5	1	2	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:7586265C>T	uc010sge.2	-	2	176	c.150G>A	c.(148-150)ctG>ctA	p.L50L	CD163L1_uc001qsy.3_Silent_p.L50L	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	50	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CTCCATTGACCAGCCTCAACT	0.473													T	7586265	C	T	7586265	2	4	44	1	0	0	0	0	0	0	0	1	2998	581	21	2		2	CD163L1	12	7586265	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		7586265	126265630	46	2740											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435035	18435035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggcatattcttggcaaaCggatccaaatcctaatgaat	15	11	7	8	1	1	1	0	1	1	0	3	2	3	2	2	3	1	2	2	3	6	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:18435035C>T	uc001rdt.3	+	1	136	c.20C>T	c.(19-21)aCg>aTg	p.T7M	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.T7M|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	7					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.T7M(2)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				TCTTGGCAAACGGATCCAAAT	0.353													T	18435035	C	T	18435035	3	4	44	1	0	0	0	0	1	0	0	0	11988	536	19	1	22	1	PIK3C2G	12	18435035	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	10848770	18435035	115416860	47	2741											
KRT7	3855	broad.mit.edu	37	chr12	52642505	52642505	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctgaaggcttattccatCcggaccgcatccgccagtcg	7	9	9	16	4	0	1	0	1	0	0	5	2	4	2	6	2	0	2	6	2	2	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:52642505C>A	uc001saa.1	+	8	1498	c.1371C>A	c.(1369-1371)atC>atA	p.I457I	KRT86_uc010snq.2_5'Flank	NM_005556	NP_005547	P08729	K2C7_HUMAN	Homo sapiens keratin 7 (KRT7), mRNA.	457	Tail.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity	p.I457M(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		CTTATTCCATCCGGACCGCAT	0.647													A	52642505	C	A	52642505	2	1	44	1	0	0	0	0	0	0	0	1	8541	845	30	4		4	KRT7	12	52642505	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	34207470	52642505	81209390	48	2742											
KRT2	3849	broad.mit.edu	37	chr12	53039092	53039092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctctggagccagactgtCggcctccagagccataactg	8	7	11	15	2	1	2	0	0	1	2	3	3	2	3	5	2	3	0	5	2	1	1	rs142557360		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:53039092C>T	uc001sat.3	-	8	1664	c.1631G>A	c.(1630-1632)cGa>cAa	p.R544Q		NM_000423	NP_000414	P35908	K22E_HUMAN	Homo sapiens keratin 2 (KRT2), mRNA.	544	Tail.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		GCCAGACTGTCGGCCTCCAGA	0.572													T	53039092	C	T	53039092	3	4	44	1	0	0	0	0	1	0	0	0	8515	884	31	1	292	1	KRT2	12	53039092	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	396587	53039092	80812803	49	2743											
DCN	1634	broad.mit.edu	37	chr12	91552214	91552214	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcttggacagataaagtcGttccaacttcaccaaaggtg	13	11	8	9	1	2	1	1	0	1	1	4	2	3	2	2	2	1	1	2	2	4	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:91552214G>A	uc001tbt.3	-	3	651	c.397C>T	c.(397-399)Cga>Tga	p.R133*	DCN_uc001tbo.3_Intron|DCN_uc001tbp.3_Intron|DCN_uc001tbq.3_Intron|DCN_uc001tbr.3_Intron|DCN_uc001tbu.3_Nonsense_Mutation_p.R133*	NM_133503	NP_598010	P07585	PGS2_HUMAN	Homo sapiens decorin (DCN), transcript variant A2, mRNA.	133					organ morphogenesis	extracellular space		p.R133*(2)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGATAAAGTCGTTCCAACTTC	0.408													A	91552214	G	A	91552214	4	1	44	1	0	0	0	0	0	1	0	0	4331	1153	40	1	702	1	DCN	12	91552214	Nonsense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	38513122	91552214	42299681	50	2744											
POLR3B	55703	broad.mit.edu	37	chr12	106824234	106824234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggaatgctgtgtccttcgGacactcctgaaggagaggta	9	9	15	8	1	0	2	0	1	0	1	3	5	2	4	2	5	1	2	2	5	3	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:106824234G>A	uc001tlp.3	+	13	1669	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	POLR3B_uc001tlq.3_Missense_Mutation_p.D425N	NM_018082	NP_001154180	Q9NW08	RPC2_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide B (POLR3B), transcript variant 1, mRNA.	483					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						GTGTCCTTCGGACACTCCTGA	0.522													A	106824234	G	A	106824234	3	1	44	1	0	0	0	0	1	0	0	0	12306	1174	41	2	1501	2	POLR3B	12	106824234	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	15272020	106824234	27027661	51	2745											
RIMBP2	23504	broad.mit.edu	37	chr12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttccggggcccacgggcGgctccagcatgtgcccatgc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	4	3	2	5	4	0	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr12:130921520G>A	uc001uil.2	-	9	2138	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_uc001uim.3_Missense_Mutation_p.P549L	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	641	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711													A	130921520	G	A	130921520	3	1	44	1	0	0	0	0	1	0	0	0	13452	1116	39	1	1276	1	RIMBP2	12	130921520	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	24097286	130921520	2930375	52	2746											
PARP4	143	broad.mit.edu	37	chr13	25016086	25016086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacttttggaatatcaggAaaaggcgactcattctcatc	14	11	8	8	1	3	0	3	0	1	0	5	4	3	2	0	3	1	0	0	3	5	4	rs113538547		TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:25016086A>G	uc001upl.3	-	29	3670	c.3564T>C	c.(3562-3564)ttT>ttC	p.F1188F		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1188					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.F1188F(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GAATATCAGGAAAAGGCGACT	0.413													G	25016086	A	G	25016086	2	3	44	1	0	0	0	0	0	0	0	1	11539	243	9	3		3	PARP4	13	25016086	Silent	SNP	A	TCGA-06-0213-01A-01D-1491-08		25016086	90153792	53	2747											
RB1	5925	broad.mit.edu	37	chr13	49030485	49030485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgttttataaaaaaGgttagtagatgattattttc	13	19	6	3	0	1	2	1	1	0	1	2	2	1	2	0	1	0	3	0	1	7	9			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr13:49030485G>C	uc001vcb.3	+	19	2126	c.1960_splice	c.e19+1	p.V654_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	654	Domain B.|Pocket; binds T and E1A.		V -> E (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)|p.V654M(3)|p.V654fs*4(1)|p.V654L(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTATAAAAAAGGTTAGTAGAT	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C	49030485	G	C	49030485	3	2	44	1	0	0	0	0	1	0	0	0	13186	1014	35	4	2034	4	RB1	13	49030485	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	24014399	49030485	66139393	54	2748											
RIN3	79890	broad.mit.edu	37	chr14	93118565	93118565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccctcccagacgccgcGtttccgagagggtgtcctta	5	9	11	16	4	0	2	0	0	0	2	3	3	3	2	6	1	1	1	6	1	1	2	rs145578489	byFrequency	TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:93118565G>A	uc001yap.3	+	5	1323	c.1171G>A	c.(1171-1173)Gtt>Att	p.V391I	RIN3_uc010auk.3_Missense_Mutation_p.V53I|RIN3_uc001yaq.3_Missense_Mutation_p.V316I|RIN3_uc001yar.1_Missense_Mutation_p.V53I|RIN3_uc001yas.1_Missense_Mutation_p.V53I	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	391	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				CAGACGCCGCGTTTCCGAGAG	0.667													A	93118565	G	A	93118565	3	1	44	1	0	0	0	0	1	0	0	0	13464	1145	40	1	1193	1	RIN3	14	93118565	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		93118565	14230975	55	2749											
RCOR1	23186	broad.mit.edu	37	chr14	103174815	103174815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtttagcttccagataaatCtatagcaagtctggtgaaat	13	14	8	6	0	2	2	0	1	2	1	3	2	3	2	1	1	2	3	1	1	7	6			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:103174815C>G	uc001ymb.3	+	5	902	c.665C>G	c.(664-666)tCt>tGt	p.S222C		NM_015156	NP_055971	Q9UKL0	RCOR1_HUMAN	Homo sapiens REST corepressor 1 (RCOR1), mRNA.	222	Interaction with HDAC1.|SANT 1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CCAGATAAATCTATAGCAAGT	0.393													G	103174815	C	G	103174815	3	3	44	1	0	0	0	0	1	0	0	0	13270	913	32	4	687	4	RCOR1	14	103174815	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08	10056250	103174815	4174725	56	2750											
JAG2	3714	broad.mit.edu	37	chr14	105617967	105617967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtgcagacactcaccaagGgcacaggtgggcccgctcca	10	4	12	15	2	1	1	1	0	0	1	2	1	2	1	3	3	1	3	3	3	1	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr14:105617967G>A	uc001yqg.3	-	7	1553	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Silent_p.A383A	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	383	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAAGGGCACAGGTGG	0.652													A	105617967	G	A	105617967	2	1	44	1	0	0	0	0	0	0	0	1	7993	1219	43	2		2	JAG2	14	105617967	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	2443152	105617967	1731573	57	2751											
TMC3	342125	broad.mit.edu	37	chr15	81624852	81624852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctggcccacggacctcgGgaacctgccctggctgtggg	4	6	17	14	2	0	0	0	0	0	0	1	2	0	2	4	6	2	2	4	6	1	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr15:81624852G>A	uc021ssk.1	-	21	3211	c.3211C>T	c.(3211-3213)Ccg>Tcg	p.P1071S	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	1071						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ACGGACCTCGGGAACCTGCCC	0.612													A	81624852	G	A	81624852	3	1	44	1	0	0	0	0	1	0	0	0	16086	1232	43	2	95	2	TMC3	15	81624852	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		81624852	20906540	58	2752											
NPRL3	8131	broad.mit.edu	37	chr16	167362	167362	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccctcttcggggaaggatCtgttttggagatctgtaaaa	9	14	11	7	1	3	1	0	0	3	1	5	4	4	3	1	4	0	2	1	4	3	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:167362C>G	uc002cfr.3	-	4	455	c.331G>C	c.(331-333)Gat>Cat	p.D111H	NPRL3_uc010uua.1_Intron|NPRL3_uc002cfp.2_Non-coding_Transcript|NPRL3_uc021szl.1_Missense_Mutation_p.D33H|NPRL3_uc021szm.1_Intron|NPRL3_uc021szn.1_Intron|NPRL3_uc002cfq.3_Intron	NM_001077350	NP_001070818	Q12980	NPRL3_HUMAN	Homo sapiens nitrogen permease regulator-like 3 (S. cerevisiae) (NPRL3), transcript variant 1, mRNA.	111							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						GGGGAAGGATCTGTTTTGGAG	0.393													G	167362	C	G	167362	3	3	44	1	0	0	0	0	1	0	0	0	10674	913	32	4	1417	4	NPRL3	16	167362	Missense_Mutation	SNP	C	TCGA-06-0213-01A-01D-1491-08		167362	90187391	59	2753											
CX3CL1	6376	broad.mit.edu	37	chr16	57416501	57416501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccagcgtgtgtggggtcagGgacagagccccaggccagag	8	4	18	11	1	1	2	1	0	0	2	1	3	1	3	4	4	2	0	4	4	0	0			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr16:57416501G>A	uc002eli.3	+	2	818	c.751G>A	c.(751-753)Gga>Aga	p.G251R		NM_002996	NP_002987	P78423	X3CL1_HUMAN	Homo sapiens chemokine (C-X3-C motif) ligand 1 (CX3CL1), mRNA.	251	Mucin-like stalk.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						GTGGGGTCAGGGACAGAGCCC	0.692													A	57416501	G	A	57416501	3	1	44	1	0	0	0	0	1	0	0	0	4107	1233	43	2	761	2	CX3CL1	16	57416501	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	57249139	57416501	32938252	60	2754											
SCN4A	6329	broad.mit.edu	37	chr17	62018566	62018566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttgagggcgtccatttcCccagagtcacccaggacctc	7	9	10	15	1	1	2	1	1	0	1	4	3	3	3	5	2	1	1	5	2	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:62018566C>T	uc002jds.1	-	23	5153	c.5076G>A	c.(5074-5076)ggG>ggA	p.G1692G		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1692					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGTCCATTTCCCCAGAGTCAC	0.577													T	62018566	C	T	62018566	2	4	44	1	0	0	0	0	0	0	0	1	14013	610	22	2		2	SCN4A	17	62018566	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08		62018566	19176644	61	2755											
ITGB4	3691	broad.mit.edu	37	chr17	73745120	73745120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaccaccatcatcatcaggGacccaggtaggcagagcctg	11	5	10	15	0	3	1	3	0	0	1	3	2	3	2	5	3	1	2	5	3	1	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr17:73745120G>A	uc002jpg.3	+	26	3497	c.3310G>A	c.(3310-3312)Gac>Aac	p.D1104N	ITGB4_uc002jph.3_Missense_Mutation_p.D1104N|ITGB4_uc002jpi.4_Missense_Mutation_p.D1104N|ITGB4_uc002jpj.3_Missense_Mutation_p.D1104N	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	1104					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CATCATCAGGGACCCAGGTAG	0.617													A	73745120	G	A	73745120	3	1	44	1	0	0	0	0	1	0	0	0	7955	1174	41	2	3412	2	ITGB4	17	73745120	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	11726554	73745120	7450090	62	2756											
PRKCSH	5589	broad.mit.edu	37	chr19	11559895	11559895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtctctcacagcaccTggggctcatggattggcccc	5	10	11	15	0	3	0	2	0	1	0	4	1	3	1	4	4	1	2	4	4	0	1			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:11559895T>C	uc010xlz.2	+	15	1702	c.1366T>C	c.(1366-1368)Tgg>Cgg	p.W456R	PRKCSH_uc002mrt.3_Missense_Mutation_p.W449R|PRKCSH_uc002mru.3_Missense_Mutation_p.W446R|PRKCSH_uc010dyb.3_Missense_Mutation_p.W446R	NM_002743	NP_002734	P14314	GLU2B_HUMAN	Homo sapiens protein kinase C substrate 80K-H (PRKCSH), transcript variant 1, mRNA.	449	PRKCSH.				innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						TCACAGCACCTGGGGCTCATG	0.662													C	11559895	T	C	11559895	3	2	44	1	0	0	0	0	1	0	0	0	12602	1580	55	3	1424	3	PRKCSH	19	11559895	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08		11559895	47569088	63	2757											
B3GNT8	374907	broad.mit.edu	37	chr19	41932546	41932546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctcagggttggctggCgtggggcttggcggggtgcc	1	9	23	8	2	1	0	1	0	0	0	1	0	1	0	1	9	1	4	1	9	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr19:41932546C>T	uc002oqs.3	-	2	592	c.138G>A	c.(136-138)acG>acA	p.T46T	B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Silent_p.T46T	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.	46					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						GGTTGGCTGGCGTGGGGCTTG	0.662													T	41932546	C	T	41932546	2	4	44	1	0	0	0	0	0	0	0	1	1268	755	27	1		1	B3GNT8	19	41932546	Silent	SNP	C	TCGA-06-0213-01A-01D-1491-08	30372651	41932546	17196437	64	2758											
SIRPA	140885	broad.mit.edu	37	chr20	1895993	1895993	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttttccatccgcatcggtAacatcaccccagcagatgcc	10	9	6	16	2	1	1	1	0	0	1	4	1	3	1	5	1	3	3	5	1	1	3			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chr20:1895993A>G	uc002wfq.3	+	2	688	c.328A>G	c.(328-330)Aac>Gac	p.N110D	SIRPA_uc010zps.2_Missense_Mutation_p.N90D|SIRPA_uc002wfr.3_Missense_Mutation_p.N110D|SIRPA_uc002wfs.3_Missense_Mutation_p.N110D|SIRPA_uc002wft.3_Missense_Mutation_p.N110D	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	110	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CCGCATCGGTAACATCACCCC	0.502													G	1895993	A	G	1895993	3	3	44	1	0	0	0	0	1	0	0	0	14426	362	13	3	334	3	SIRPA	20	1895993	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08		1895993	61129527	65	2759											
CACNA1F	778	broad.mit.edu	37	chrX	49077514	49077514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggccttcattctcctgtgGgagatccttctcattgctct	5	15	8	13	0	4	1	2	0	3	1	7	2	5	1	3	2	1	1	3	2	0	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:49077514G>T	uc004dnb.3	-	17	2409	c.2347C>A	c.(2347-2349)Cca>Aca	p.P783T	CACNA1F_uc010nip.3_Missense_Mutation_p.P772T	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	783					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TTCTCCTGTGGGAGATCCTTC	0.502													T	49077514	G	T	49077514	3	4	44	1	0	0	0	0	1	0	0	0	2569	1232	43	4	3710	4	CACNA1F	23	49077514	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08		49077514	106193046	66	2760											
TAF1	6872	broad.mit.edu	37	chrX	70587386	70587386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaggcttgggggctttggGgctgggcagcctgatcactg	4	9	19	9	0	1	1	1	1	0	0	1	1	1	1	1	7	1	5	1	7	0	2			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:70587386G>A	uc004dzu.4	+	1	269	c.218G>A	c.(217-219)gGg>gAg	p.G73E	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.G73E	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	73	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.G73E(2)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGGCTTTGGGGCTGGGCAGC	0.522													A	70587386	G	A	70587386	3	1	44	1	0	0	0	0	1	0	0	0	15610	1232	43	2	224	2	TAF1	23	70587386	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	21509872	70587386	84683174	67	2761											
ATRX	546	broad.mit.edu	37	chrX	76872167	76872167	+	Frame_Shift_Del	DEL	A	A	-																															catattcgtgttttggaggcAagaattttgttaatgctgta																										TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:76872167delA	uc004ecp.4	-	21	5712	c.5480delT	c.(5479-5481)ttgfs	p.L1827fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.L1789fs|ATRX_uc004eco.4_Frame_Shift_Del_p.L1612fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1827					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.L1827L(1)|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)	TTTTGGAGGCAAGAATTTTGT	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76872167	A	-	76872167	7	5	44	1	0	1	0	1	0	0	0	0	1213	131	5	0	2054	0	ATRX	23	76872167	Frame_Shift_Del	DEL	A	TCGA-06-0213-01A-01D-1491-08	6284781	76872167	78398393	68	2762											
ARMCX2	9823	broad.mit.edu	37	chrX	100910782	100910782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagatgtagtgcataagTaaaaaagggaacctttattg	15	11	9	6	0	0	1	0	0	0	1	1	2	1	2	2	1	2	3	2	1	7	6			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:100910782T>G	uc010nnt.2	-	4	2602	c.1793A>C	c.(1792-1794)tAc>tCc	p.Y598S	ARMCX2_uc004eid.2_Missense_Mutation_p.Y598S|ARMCX2_uc004eie.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eif.3_Missense_Mutation_p.Y598S|ARMCX2_uc004eig.3_Missense_Mutation_p.Y598S|ARMCX2_uc022caq.1_Missense_Mutation_p.Y598S	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	598						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGTGCATAAGTAAAAAAGGGA	0.328													G	100910782	T	G	100910782	3	3	44	1	0	0	0	0	1	0	0	0	965	1638	57	5	109	5	ARMCX2	23	100910782	Missense_Mutation	SNP	T	TCGA-06-0213-01A-01D-1491-08	24038615	100910782	54359778	69	2763											
RNF128	79589	broad.mit.edu	37	chrX	106038858	106038858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaattctgtggcagtggAtgttattcctcatgttgaca	10	14	10	7	0	2	1	1	1	1	0	3	2	3	2	1	2	1	4	1	2	2	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:106038858A>G	uc004eml.3	+	6	1452	c.1202A>G	c.(1201-1203)gAt>gGt	p.D401G	RNF128_uc004emk.3_Missense_Mutation_p.D375G	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	401						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GTGGCAGTGGATGTTATTCCT	0.358													G	106038858	A	G	106038858	3	3	44	1	0	0	0	0	1	0	0	0	13527	333	12	3	1638	3	RNF128	23	106038858	Missense_Mutation	SNP	A	TCGA-06-0213-01A-01D-1491-08	5128076	106038858	49231702	70	2764											
LAMP2	3920	broad.mit.edu	37	chrX	119580241	119580241	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacggcagctgcctgtGgagtgagttgtattggggtt	7	12	17	5	1	0	2	0	2	0	1	0	4	0	3	1	4	3	5	1	4	2	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:119580241G>T	uc004ess.4	-	5	963	c.783C>A	c.(781-783)tcC>tcA	p.S261S	LAMP2_uc004est.4_Silent_p.S261S|LAMP2_uc011mtz.2_Silent_p.S150S|LAMP2_uc011mua.1_Silent_p.S214S|LAMP2_uc010nqp.1_Silent_p.S261S	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	261	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						AGCTGCCTGTGGAGTGAGTTG	0.423													T	119580241	G	T	119580241	2	4	44	1	0	0	0	0	0	0	0	1	8677	1335	47	4		4	LAMP2	23	119580241	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	13541383	119580241	35690319	71	2765											
GRIA3	2892	broad.mit.edu	37	chrX	122528885	122528885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattacaggtttccagattGtcaacaatgaaaaccctatg	15	11	6	9	0	1	2	1	1	0	1	2	2	2	2	2	1	3	1	2	1	6	4			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122528885G>A	uc004etq.4	+	5	1109	c.817G>A	c.(817-819)Gtc>Atc	p.V273I	GRIA3_uc004etr.4_Missense_Mutation_p.V273I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V257I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	273					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTTCCAGATTGTCAACAATGA	0.438													A	122528885	G	A	122528885	3	1	44	1	0	0	0	0	1	0	0	0	6824	1377	48	2	839	2	GRIA3	23	122528885	Missense_Mutation	SNP	G	TCGA-06-0213-01A-01D-1491-08	2948644	122528885	32741675	72	2766											
THOC2	57187	broad.mit.edu	37	chrX	122761607	122761607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgacttctcgttcataGctggtgtgtggaactgcaag	8	15	11	7	1	2	1	1	1	1	0	3	2	2	2	0	2	3	3	0	2	4	5			TCGA-06-0213-01A-01D-1491-08	TCGA-06-0213-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	885f9df7-fc27-43c2-9acc-833c410b2db1	0206ce3d-4c48-4f58-8eeb-07a34adc9fcd	g.chrX:122761607G>A	uc004etu.3	-	22	2726	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	THOC2_uc011muh.1_Silent_p.S823S|Mir_584_uc022cdq.1_5'Flank	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	898					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTCGTTCATAGCTGGTGTGTG	0.388													A	122761607	G	A	122761607	2	1	44	1	0	0	0	0	0	0	0	1	15965	962	34	2		2	THOC2	23	122761607	Silent	SNP	G	TCGA-06-0213-01A-01D-1491-08	232722	122761607	32508953	73	2767											
CROCC	9696	broad.mit.edu	37	chr1	17266398	17266398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccccaggacatgcgtGggcgctatgaggcaagccag	10	4	13	14	2	0	1	0	1	0	0	0	2	0	2	4	3	2	2	4	3	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:17266398G>A	uc001azt.2	+	12	1687	c.1618G>A	c.(1618-1620)Ggg>Agg	p.G540R	CROCC_uc009voy.1_Missense_Mutation_p.G243R|CROCC_uc009voz.1_Missense_Mutation_p.G303R|CROCC_uc001azu.2_5'UTR	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	540					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GGACATGCGTGGGCGCTATGA	0.647													A	17266398	G	A	17266398	3	1	45	1	0	0	0	0	1	0	0	0	3924	1348	47	2	1668	2	CROCC	1	17266398	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		17266398	231984223	1	2768											
CLIC4	25932	broad.mit.edu	37	chr1	25124266	25124266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaaagcataggaaactgcCccttttcccagaggctcttc	10	10	9	12	0	1	2	0	1	1	1	3	3	2	3	3	2	3	2	3	2	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:25124266C>T	uc001bjo.2	+	1	391	c.106C>T	c.(106-108)Ccc>Tcc	p.P36S	CLIC4_uc001bjp.1_Intron	NM_013943	NP_039234	Q9Y696	CLIC4_HUMAN	Homo sapiens chloride intracellular channel 4 (CLIC4), nuclear gene encoding mitochondrial protein, mRNA.	36	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		AGGAAACTGCCCCTTTTCCCA	0.403													T	25124266	C	T	25124266	3	4	45	1	0	0	0	0	1	0	0	0	3559	623	22	2	112	2	CLIC4	1	25124266	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	7857868	25124266	224126355	2	2769											
BSDC1	55108	broad.mit.edu	37	chr1	32843632	32843632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcccgctgcttcagggcGtccctccgggcctgctcctg	1	9	12	19	4	1	0	1	0	0	0	5	0	5	0	6	2	2	3	6	2	0	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:32843632G>A	uc001bvi.3	-	7	713	c.666C>T	c.(664-666)gaC>gaT	p.D222D	BSDC1_uc001bvh.4_Silent_p.D205D|BSDC1_uc010ohg.2_Silent_p.D222D|BSDC1_uc010ohh.2_Silent_p.D149D|BSDC1_uc010ohi.2_Silent_p.D110D|BSDC1_uc001bvg.4_Non-coding_Transcript|BSDC1_uc001bvj.3_Silent_p.D101D			Q9NW68	BSDC1_HUMAN	Homo sapiens BSD domain containing 1 (BSDC1), transcript variant 1, mRNA.	205							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTTCAGGGCGTCCCTCCGGG	0.622													A	32843632	G	A	32843632	2	1	45	1	0	0	0	0	0	0	0	1	1537	1136	40	1		1	BSDC1	1	32843632	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	7719366	32843632	216406989	3	2770											
IL12RB2	3595	broad.mit.edu	37	chr1	67787302	67787302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgcgtgcaagagaggcGatgtgactgtgaagccttcc	10	8	14	9	2	0	4	0	2	0	2	1	6	1	4	2	1	3	1	2	1	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:67787302G>A	uc001ddu.3	+	2	734	c.94G>A	c.(94-96)Gat>Aat	p.D32N	IL12RB2_uc010oqi.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqj.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqm.2_Missense_Mutation_p.D32N|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	32					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CAAGAGAGGCGATGTGACTGT	0.393													A	67787302	G	A	67787302	3	1	45	1	0	0	0	0	1	0	0	0	7685	1058	37	1	100	1	IL12RB2	1	67787302	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	34943670	67787302	181463319	4	2771											
SYDE2	84144	broad.mit.edu	37	chr1	85624652	85624652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttgctataattttctccGatttttctatcttctgaagg	8	21	5	7	1	4	1	0	1	4	0	5	2	4	1	1	1	1	1	1	1	4	10			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:85624652G>A	uc009wcm.3	-	6	3415	c.3366C>T	c.(3364-3366)atC>atT	p.I1122I		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1122					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		AATTTTCTCCGATTTTTCTAT	0.363													A	85624652	G	A	85624652	2	1	45	1	0	0	0	0	0	0	0	1	15533	1048	37	1		1	SYDE2	1	85624652	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	17837350	85624652	163625969	5	2772											
GBP3	2635	broad.mit.edu	37	chr1	89481028	89481028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaaggtgtgttctggctttTtggggtgaggcacacaccac	7	12	13	9	0	1	1	0	1	1	0	1	1	1	1	1	5	0	3	1	5	1	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:89481028T>C	uc001dmt.3	-	2	465	c.260A>G	c.(259-261)aAa>aGa	p.K87R	GBP3_uc010oss.2_Missense_Mutation_p.K8R|GBP3_uc001dmu.3_5'UTR|GBP3_uc001dmv.3_Non-coding_Transcript|GBP3_uc021opp.1_Missense_Mutation_p.K87R	NM_018284	NP_060754	Q9H0R5	GBP3_HUMAN	Homo sapiens guanylate binding protein 3 (GBP3), mRNA.	87						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		TTCTGGCTTTTTGGGGTGAGG	0.483													C	89481028	T	C	89481028	3	2	45	1	0	0	0	0	1	0	0	0	6329	1841	64	3	1563	3	GBP3	1	89481028	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	3856376	89481028	159769593	6	2773											
FAM46C	54855	broad.mit.edu	37	chr1	118166248	118166248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcaaccttcttgtgcGggacttcaggcccacagacc	9	8	10	14	1	2	1	1	0	1	1	2	2	2	2	3	2	4	2	3	2	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:118166248G>A	uc021osq.1	+	0	758	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	FAM46C_uc001ehe.3_Missense_Mutation_p.R253Q	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	253								p.R253L(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CTTCTTGTGCGGGACTTCAGG	0.517			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			A	118166248	G	A	118166248	3	1	45	1	0	0	0	0	1	0	0	0	5618	1116	39	1	760	1	FAM46C	1	118166248	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	28685220	118166248	131084373	7	2774											
HRNR	388697	broad.mit.edu	37	chr1	152192393	152192393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagactcatatgggccaCggcttgaagacctccctgag	10	7	11	13	1	1	4	1	2	0	2	2	4	2	4	4	2	1	1	4	2	2	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:152192393C>T	uc001ezt.1	-	2	1788	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	571					keratinization		calcium ion binding|protein binding	p.R571H(2)|p.S570S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATATGGGCCACGGCTTGAAGA	0.592													T	152192393	C	T	152192393	3	4	45	1	0	0	0	0	1	0	0	0	7414	536	19	1	6844	1	HRNR	1	152192393	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	34026145	152192393	97058228	8	2775											
SPTA1	6708	broad.mit.edu	37	chr1	158639308	158639308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactccttcagcaatctacGtctagtggcagccttttcac	8	13	7	13	1	4	1	2	1	2	0	5	1	5	1	2	1	3	2	2	1	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:158639308G>A	uc001fst.1	-	13	1922	c.1723C>T	c.(1723-1725)Cgt>Tgt	p.R575C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	575					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R575H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCAATCTACGTCTAGTGGCA	0.448													A	158639308	G	A	158639308	3	1	45	1	0	0	0	0	1	0	0	0	15212	1145	40	1	5692	1	SPTA1	1	158639308	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	6446915	158639308	90611313	9	2776											
CCDC19	25790	broad.mit.edu	37	chr1	159846467	159846467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtttccatcttcttccGcgcattttccttttcctttc	2	21	3	15	2	3	0	0	0	3	0	8	0	7	0	4	0	0	2	4	0	0	8	rs141229765		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:159846467G>A	uc001fui.3	-	9	1249	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	CCDC19_uc009wtb.3_Non-coding_Transcript|CCDC19_uc001fuk.3_Missense_Mutation_p.R326W|CCDC19_uc001fuj.3_Non-coding_Transcript|CCDC19_uc009wtc.1_Missense_Mutation_p.A410V	NM_012337	NP_036469	Q9UL16	CCD19_HUMAN	Homo sapiens coiled-coil domain containing 19 (CCDC19), mRNA.	411						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ATCTTCTTCCGCGCATTTTCC	0.577													A	159846467	G	A	159846467	3	1	45	1	0	0	0	0	1	0	0	0	2822	1086	38	1	436	1	CCDC19	1	159846467	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	1207159	159846467	89404154	10	2777											
ANGEL2	90806	broad.mit.edu	37	chr1	213178541	213178541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagcattgccaattgcGtcagcttaatatcacctcgc	10	11	7	13	2	2	0	2	0	0	0	3	0	2	0	3	0	4	3	3	0	4	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:213178541G>A	uc001hjz.3	-	4	1123	c.968C>T	c.(967-969)aCg>aTg	p.T323M	ANGEL2_uc010pto.2_Missense_Mutation_p.T197M|ANGEL2_uc010ptp.2_Missense_Mutation_p.T197M|ANGEL2_uc001hka.3_Missense_Mutation_p.T154M|ANGEL2_uc010ptq.2_Non-coding_Transcript	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	323								p.T323T(1)		central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		TGCCAATTGCGTCAGCTTAAT	0.453													A	213178541	G	A	213178541	3	1	45	1	0	0	0	0	1	0	0	0	609	1145	40	1	686	1	ANGEL2	1	213178541	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	53332074	213178541	36072080	11	2778											
USH2A	7399	broad.mit.edu	37	chr1	216143995	216143995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcacaacctttggccGtgcatgcttggactctgaag	9	9	11	12	1	1	2	0	1	1	1	1	3	1	3	3	2	4	3	3	2	2	2	rs151057466	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:216143995G>A	uc001hku.1	-	35	7316	c.6929C>T	c.(6928-6930)aCg>aTg	p.T2310M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2310	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.T2310M(2)|p.T2310T(1)		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)		ACCTTTGGCCGTGCATGCTTG	0.408										HNSCC(13;0.011)			A	216143995	G	A	216143995	3	1	45	1	0	0	0	0	1	0	0	0	17138	1145	40	1	8827	1	USH2A	1	216143995	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	2965454	216143995	33106626	12	2779											
LYST	1130	broad.mit.edu	37	chr1	235940405	235940405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagttccaccaatttcGtgcagaatgccttgaatagt	11	12	8	10	1	0	2	0	1	0	1	2	2	1	2	4	0	3	2	4	0	4	4	rs146990900		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr1:235940405G>A	uc001hxj.2	-	16	5593	c.5418C>T	c.(5416-5418)caC>caT	p.H1806H	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	1806					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CACCAATTTCGTGCAGAATGC	0.348													A	235940405	G	A	235940405	2	1	45	1	0	0	0	0	0	0	0	1	9199	1136	40	1		1	LYST	1	235940405	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	19796410	235940405	13310216	13	2780											
APOB	338	broad.mit.edu	37	chr2	21249770	21249770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctttgttgacactgtctgGgaaaaatccttgcttcccaa	10	13	8	10	0	1	1	0	1	1	0	3	2	3	2	2	1	2	3	2	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:21249770G>A	uc002red.3	-	14	2262	c.2134C>T	c.(2134-2136)Cca>Tca	p.P712S		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	712					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F711L(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACACTGTCTGGGAAAAATCCT	0.413													A	21249770	G	A	21249770	3	1	45	1	0	0	0	0	1	0	0	0	788	1232	43	2	11617	2	APOB	2	21249770	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		21249770	221949603	14	2781											
MSH6	2956	broad.mit.edu	37	chr2	48026476	48026476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactggggctggtattcAtgaaaggcaactgggcccat	10	9	14	8	0	1	2	1	2	0	0	1	2	1	2	1	5	2	3	1	5	4	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:48026476A>G	uc002rwd.4	+	3	1506	c.1354A>G	c.(1354-1356)Atg>Gtg	p.M452V	MSH6_uc002rwc.2_Missense_Mutation_p.M452V|MSH6_uc010fbj.3_Missense_Mutation_p.M150V|MSH6_uc010yoj.2_Missense_Mutation_p.M150V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	452					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCTGGTATTCATGAAAGGCAA	0.453			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G	48026476	A	G	48026476	3	3	45	1	0	0	0	0	1	0	0	0	9950	217	8	3	1368	3	MSH6	2	48026476	Missense_Mutation	SNP	A	TCGA-06-0214-01A-02D-1491-08	26776706	48026476	195172897	15	2782											
SEMA4F	10505	broad.mit.edu	37	chr2	74900889	74900889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctacttcttctttacGgagacttcccgagcatttga	10	14	7	10	2	3	2	0	1	3	1	4	5	4	2	1	1	3	1	1	1	3	7			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:74900889G>A	uc002sna.1	+	6	867	c.756G>A	c.(754-756)acG>acA	p.T252T	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.T252T|SEMA4F_uc010ffq.1_Silent_p.T219T|SEMA4F_uc010ffr.1_Intron|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	252	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCTTCTTTACGGAGACTTCCC	0.567													A	74900889	G	A	74900889	2	1	45	1	0	0	0	0	0	0	0	1	14128	1103	39	1		1	SEMA4F	2	74900889	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	26874413	74900889	168298484	16	2783											
SDPR	8436	broad.mit.edu	37	chr2	192711627	192711627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagggtgctggaacttttCggcctgtgcagcgtcctctc	4	11	12	14	2	1	0	0	0	1	0	4	1	2	1	3	3	4	2	3	3	1	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr2:192711627C>T	uc002utb.3	-	0	380	c.25G>A	c.(25-27)Gaa>Aaa	p.E9K		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	9						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TGGAACTTTTCGGCCTGTGCA	0.612													T	192711627	C	T	192711627	3	4	45	1	0	0	0	0	1	0	0	0	14063	893	31	1	1260	1	SDPR	2	192711627	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	117810738	192711627	50487746	17	2784											
ACAA1	30	broad.mit.edu	37	chr3	38175476	38175476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgattcgggccatgattgccCcggccccaggctgcagcaca	7	6	12	16	3	0	1	0	1	0	0	1	2	0	1	5	3	3	3	5	3	0	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:38175476C>T	uc003cht.3	-	2	497	c.290G>A	c.(289-291)gGg>gAg	p.G97E	ACAA1_uc003chu.3_Missense_Mutation_p.G97E	NM_001607	NP_001598	P09110	THIK_HUMAN	Homo sapiens acetyl-CoA acyltransferase 1 (ACAA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	97					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CATGATTGCCCCGGCCCCAGG	0.522													T	38175476	C	T	38175476	3	4	45	1	0	0	0	0	1	0	0	0	104	623	22	2	1024	2	ACAA1	3	38175476	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		38175476	159846954	18	2785											
C3orf67	200844	broad.mit.edu	37	chr3	58870384	58870384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcattagttgacagcttCgtggtataatatctgtaggc	9	15	10	7	1	2	1	1	1	1	0	3	1	2	1	0	2	1	4	0	2	5	7			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:58870384C>T	uc003dkt.1	-	6	636	c.227G>A	c.(226-228)cGa>cAa	p.R76Q	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_5'UTR	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	76								p.R76Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTGACAGCTTCGTGGTATAAT	0.393													T	58870384	C	T	58870384	3	4	45	1	0	0	0	0	1	0	0	0	2262	884	31	1	1504	1	C3orf67	3	58870384	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	20694908	58870384	139152046	19	2786											
C3orf17	25871	broad.mit.edu	37	chr3	112738408	112738408	+	Silent	SNP	C	C	T																															ccaagggccgcgccggggttCtgcactgtcactgcgctgcg																										TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738408C>T	uc003dzr.3	-	0	148	c.87G>A	c.(85-87)caG>caA	p.Q29Q	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.Q28Q|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	29						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGCCGGGGTTCTGCACTGTCA	0.731													T	112738408	C	T	112738408	2	4	45	1	0	0	0	0	0	0	0	1	2231	912	32	2		2	C3orf17	3	112738408	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	53868024	112738408	85284022	20	2787	2	2									
C3orf17	25871	broad.mit.edu	37	chr3	112738411	112738411	+	Silent	SNP	C	C	T																															agggccgcgccggggttctgCactgtcactgcgctgcggtt																								rs144842364	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738411C>T	uc003dzr.3	-	0	145	c.84G>A	c.(82-84)gtG>gtA	p.V28V	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Silent_p.V27V|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	28						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						CGGGGTTCTGCACTGTCACTG	0.726													T	112738411	C	T	112738411	2	4	45	1	0	0	0	0	0	0	0	1	2231	697	25	2		2	C3orf17	3	112738411	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	3	112738411	85284019	21	2788	2	2									
C3orf17	25871	broad.mit.edu	37	chr3	112738459	112738459	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttagggattctcacacggttCcacggctccaggcccggcgg	6	8	13	14	4	1	0	1	0	1	0	4	1	3	1	3	6	0	2	3	6	1	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:112738459C>T	uc003dzr.3	-	0	97	c.36G>A	c.(34-36)tgG>tgA	p.W12*	C3orf17_uc011bia.2_5'UTR|C3orf17_uc003dzu.3_Nonsense_Mutation_p.W11*|C3orf17_uc011bib.2_5'UTR|C3orf17_uc011bic.2_5'UTR|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_5'UTR|C3orf17_uc003dzt.3_5'UTR|C3orf17_uc003dzs.3_5'UTR|C3orf17_uc010hqg.3_5'UTR	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	12						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						TCACACGGTTCCACGGCTCCA	0.701													T	112738459	C	T	112738459	4	4	45	1	0	0	0	0	0	1	0	0	2231	856	30	2	1703	2	C3orf17	3	112738459	Nonsense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	48	112738459	85283971	22	2789											
IFT80	57560	broad.mit.edu	37	chr3	160075296	160075296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttatatttacagtcttcaCcagcagataaaataagatca	16	12	4	9	0	3	2	2	0	1	2	3	2	3	2	2	0	2	1	2	0	6	7			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr3:160075296C>T	uc021xgr.1	-	5	666	c.620G>A	c.(619-621)gGt>gAt	p.G207D	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Missense_Mutation_p.G70D|IFT80_uc021xgq.1_Missense_Mutation_p.G205D|IFT80_uc003fde.2_Missense_Mutation_p.G70D|IFT80_uc003fdd.2_5'UTR	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	207						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACAGTCTTCACCAGCAGATAA	0.264													T	160075296	C	T	160075296	3	4	45	1	0	0	0	0	1	0	0	0	7622	507	18	2	1769	2	IFT80	3	160075296	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	47336837	160075296	37947134	23	2790											
GPR125	166647	broad.mit.edu	37	chr4	22414939	22414939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatcccaccgggctgcaaCagcatctgctccatgtgcaa	11	7	9	14	1	1	0	0	0	1	0	3	1	3	0	3	1	5	5	3	1	3	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:22414939C>T	uc003gqm.1	-	13	2363	c.2098G>A	c.(2098-2100)Gtt>Att	p.V700I	GPR125_uc010ieo.1_Missense_Mutation_p.V556I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN	Homo sapiens G protein-coupled receptor 125 (GPR125), mRNA.	700	GPS.				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CGGGCTGCAACAGCATCTGCT	0.443													T	22414939	C	T	22414939	3	4	45	1	0	0	0	0	1	0	0	0	6693	478	17	2	1891	2	GPR125	4	22414939	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		22414939	168739337	24	2791											
PHOX2B	8929	broad.mit.edu	37	chr4	41748308	41748308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgcgctcctgcttgCgaaacttggcgcggcggttc	3	9	14	15	7	0	0	0	0	0	0	2	1	1	0	2	3	4	4	2	3	1	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:41748308C>T	uc003gwf.4	-	2	821	c.461G>A	c.(460-462)cGc>cAc	p.R154H		NM_003924	NP_003915	Q99453	PHX2B_HUMAN	Homo sapiens paired-like homeobox 2b (PHOX2B), mRNA.	154					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						CTCCTGCTTGCGAAACTTGGC	0.617			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	41748308	C	T	41748308	3	4	45	1	0	0	0	0	1	0	0	0	11936	768	27	1	487	1	PHOX2B	4	41748308	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	19333369	41748308	149405968	25	2792											
PDGFRA	5156	broad.mit.edu	37	chr4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccgtgtataagtcagggGaaacgattgtggtcacctgt	12	10	12	7	2	2	0	2	0	0	0	2	2	2	1	2	3	2	1	2	3	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:55131142G>A	uc003han.4	+	4	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55131142	G	A	55131142	3	1	45	1	0	0	0	0	1	0	0	0	11737	1175	41	2	699	2	PDGFRA	4	55131142	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	13382834	55131142	136023134	26	2793											
SGMS2	166929	broad.mit.edu	37	chr4	108820833	108820833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtgcctggaatgcatttCcagtgtgctccaaaggtcag	8	11	11	11	0	1	0	1	0	0	0	3	1	3	1	4	2	3	2	4	2	2	1	rs150340532		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:108820833C>T	uc003hyo.3	+	2	1197	c.558C>T	c.(556-558)ttC>ttT	p.F186F	SGMS2_uc003hyl.4_Silent_p.F186F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Silent_p.F186F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	186					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	GAATGCATTTCCAGTGTGCTC	0.398													T	108820833	C	T	108820833	2	4	45	1	0	0	0	0	0	0	0	1	14308	854	30	2		2	SGMS2	4	108820833	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	53689691	108820833	82333443	27	2794											
AP1AR	55435	broad.mit.edu	37	chr4	113189433	113189433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattccaatgggctggaGtgggaaaatgattttgttag	11	13	14	3	0	0	2	0	2	0	0	1	5	1	4	1	3	0	2	1	3	4	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr4:113189433G>A	uc003iaj.4	+	9	1130	c.777G>A	c.(775-777)gaG>gaA	p.E259E	AP1AR_uc003iak.4_Silent_p.E226E	NM_018569	NP_061039	Q63HQ0	AP1AR_HUMAN	Homo sapiens adaptor-related protein complex 1 associated regulatory protein (AP1AR), transcript variant 1, mRNA.	259					protein transport	early endosome|Golgi apparatus|late endosome|transport vesicle				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	9						ATGGGCTGGAGTGGGAAAATG	0.403													A	113189433	G	A	113189433	2	1	45	1	0	0	0	0	0	0	0	1	732	1020	36	2		2	AP1AR	4	113189433	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	4368600	113189433	77964843	28	2795											
MAP3K1	4214	broad.mit.edu	37	chr5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgcagcagatagggcCtaactctttcctgattggag	9	12	10	10	0	1	2	0	1	1	1	2	3	2	3	2	2	4	2	2	2	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468													T	56160697	C	T	56160697	3	4	45	1	0	0	0	0	1	0	0	0	9318	681	24	2	985	2	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		56160697	124754563	29	2796											
PAM	5066	broad.mit.edu	37	chr5	102284128	102284128	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgatgtctgttgacactGttatcccagcaggagaaaaa	13	12	9	7	0	1	3	0	2	1	1	2	4	2	3	1	1	1	3	1	1	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:102284128G>C	uc003knt.3	+	7	995	c.622G>C	c.(622-624)Gtt>Ctt	p.V208L	PAM_uc003knw.3_Missense_Mutation_p.V208L|PAM_uc003kns.3_Missense_Mutation_p.V208L|PAM_uc003knu.3_Missense_Mutation_p.V208L|PAM_uc011cuz.2_Missense_Mutation_p.V111L|PAM_uc003knv.3_Missense_Mutation_p.V208L	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	208	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGTTGACACTGTTATCCCAGC	0.303													C	102284128	G	C	102284128	3	2	45	1	0	0	0	0	1	0	0	0	11488	1377	48	4	652	4	PAM	5	102284128	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	46123431	102284128	78631132	30	2797											
KIF4B	285643	broad.mit.edu	37	chr5	154396823	154396823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgggcactgttgaacagaCccaggattccgaaggctcct	9	9	11	12	1	0	2	0	1	0	1	2	4	2	3	3	3	1	3	3	3	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:154396823C>A	uc010jih.1	+	0	3564	c.3404C>A	c.(3403-3405)aCc>aAc	p.T1135N		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1135	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GTTGAACAGACCCAGGATTCC	0.537													A	154396823	C	A	154396823	3	1	45	1	0	0	0	0	1	0	0	0	8362	507	18	4	3406	4	KIF4B	5	154396823	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	52112695	154396823	26518437	31	2798											
GRM6	2916	broad.mit.edu	37	chr5	178416095	178416095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcacaaactgcaccttgcCctcctgctcgtaggtggagt	9	10	9	13	1	1	0	1	0	0	0	3	1	2	1	3	2	4	3	3	2	3	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr5:178416095C>T	uc003mjr.3	-	5	1374	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	GRM6_uc010jla.1_Intron|GRM6_uc003mjs.1_Missense_Mutation_p.G19S	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	399					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TGCACCTTGCCCTCCTGCTCG	0.667													T	178416095	C	T	178416095	3	4	45	1	0	0	0	0	1	0	0	0	6856	623	22	2	1458	2	GRM6	5	178416095	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	24019272	178416095	2499165	32	2799											
DSP	1832	broad.mit.edu	37	chr6	7581804	7581804	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaagcaggctttagaggTattcacaaatacttgatcac	15	10	7	9	0	2	2	2	1	0	1	2	2	2	2	1	2	2	3	1	2	6	6			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:7581804T>A	uc003mxp.1	+	23	5658	c.5379_splice	c.e23+2	p.E1793_splice	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1793	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCTTTAGAGGTATTCACAAAT	0.373													A	7581804	T	A	7581804	5	1	45	1	0	0	0	0	0	0	1	0	4820	1652	57	5	5471	5	DSP	6	7581804	Splice_Site	SNP	T	TCGA-06-0214-01A-02D-1491-08		7581804	163533263	33	2800											
BTBD9	114781	broad.mit.edu	37	chr6	38224188	38224188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagacacaacttacttgCaggagactttagttctgtca	14	11	8	8	0	2	2	1	0	1	2	2	4	2	2	0	1	3	2	0	1	5	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr6:38224188C>A	uc003ooa.4	-	9	2135	c.1559G>T	c.(1558-1560)tGc>tTc	p.C520F	BTBD9_uc010jwv.3_Missense_Mutation_p.C490F|BTBD9_uc003ony.4_Missense_Mutation_p.C452F|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Missense_Mutation_p.C520F	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	520					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						AACTTACTTGCAGGAGACTTT	0.408													A	38224188	C	A	38224188	3	1	45	1	0	0	0	0	1	0	0	0	1558	710	25	4	291	4	BTBD9	6	38224188	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	30642384	38224188	132890879	34	2801											
ABCA13	154664	broad.mit.edu	37	chr7	48312026	48312026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagctctgaacacagtctaCgctatcaggaatgcatctga	13	9	9	10	1	4	2	1	2	3	0	4	4	4	3	0	1	4	3	0	1	5	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:48312026C>T	uc003toq.2	+	16	2787	c.2763C>T	c.(2761-2763)taC>taT	p.Y921Y	ABCA13_uc010kyr.2_Silent_p.Y424Y|ABCA13_uc022acp.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	921					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACACAGTCTACGCTATCAGGA	0.378													T	48312026	C	T	48312026	2	4	45	1	0	0	0	0	0	0	0	1	31	547	19	1		1	ABCA13	7	48312026	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		48312026	110826637	35	2802											
WBSCR17	64409	broad.mit.edu	37	chr7	70880884	70880884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatttgcagaggagctgaAggtccccctagaggagtatg	10	9	14	8	0	1	3	1	1	0	2	2	5	2	5	2	3	2	3	2	3	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:70880884A>G	uc003tvy.3	+	3	599	c.599A>G	c.(598-600)aAg>aGg	p.K200R	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	200	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.L199L(1)|p.K200N(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGAGCTGAAGGTCCCCCTA	0.498													G	70880884	A	G	70880884	3	3	45	1	0	0	0	0	1	0	0	0	17366	72	3	3	613	3	WBSCR17	7	70880884	Missense_Mutation	SNP	A	TCGA-06-0214-01A-02D-1491-08	22568858	70880884	88257779	36	2803											
PCLO	27445	broad.mit.edu	37	chr7	82581587	82581587	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatccactacttccccAtcagtgattccctgggatac	9	11	7	14	0	1	2	1	2	0	1	4	4	4	3	4	1	2	0	4	1	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:82581587A>G	uc003uhx.2	-	4	8971	c.8682T>C	c.(8680-8682)gaT>gaC	p.D2894D	PCLO_uc003uhv.2_Silent_p.D2894D|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2825					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTACTTCCCCATCAGTGATTC	0.438													G	82581587	A	G	82581587	2	3	45	1	0	0	0	0	0	0	0	1	11659	214	8	3		3	PCLO	7	82581587	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	11700703	82581587	76557076	37	2804											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017491	100017491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcaaagattctctttGgtccctttccacattctgaa	8	14	9	10	0	2	2	0	1	2	1	5	2	4	2	2	3	0	1	2	3	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:100017491G>C	uc003uut.3	-	3	292	c.44C>G	c.(43-45)cCa>cGa	p.P15R	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.P14R|ZCWPW1_uc003uuu.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kjt.1_Missense_Mutation_p.P14R|ZCWPW1_uc011kju.1_Missense_Mutation_p.P14R	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	15							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATTCTCTTTGGTCCCTTTCC	0.448													C	100017491	G	C	100017491	3	2	45	1	0	0	0	0	1	0	0	0	17698	1348	47	4	1962	4	ZCWPW1	7	100017491	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	17435904	100017491	59121172	38	2805											
FOXP2	93986	broad.mit.edu	37	chr7	114304409	114304409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggcctactgcaggccGtccacgaagacctcaatggt	9	7	11	14	2	1	1	1	0	0	1	2	2	2	1	5	3	2	1	5	3	3	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:114304409G>A	uc003vhb.3	+	15	2295	c.1921G>A	c.(1921-1923)Gtc>Atc	p.V641I	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.V666I|FOXP2_uc003vha.3_Missense_Mutation_p.V549I|FOXP2_uc011kmv.2_Missense_Mutation_p.V640I|FOXP2_uc011kmu.2_Missense_Mutation_p.V658I|FOXP2_uc010ljz.2_Missense_Mutation_p.V456I	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	641					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						ACTGCAGGCCGTCCACGAAGA	0.483													A	114304409	G	A	114304409	3	1	45	1	0	0	0	0	1	0	0	0	6078	1145	40	1	2146	1	FOXP2	7	114304409	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	14286918	114304409	44834254	39	2806											
TES	26136	broad.mit.edu	37	chr7	115889085	115889085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattatagaaaaatatgtcGtaactgcaagtgtggccaag	17	10	9	5	1	0	1	0	0	0	1	1	1	0	1	1	1	2	2	1	1	9	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:115889085G>A	uc003vho.3	+	2	340	c.125G>A	c.(124-126)cGt>cAt	p.R42H	TES_uc011kmx.2_Missense_Mutation_p.R42H|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.R33H|TES_uc003vhp.3_Missense_Mutation_p.R33H|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	42	Cys-rich.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			AAAATATGTCGTAACTGCAAG	0.313													A	115889085	G	A	115889085	3	1	45	1	0	0	0	0	1	0	0	0	15865	1145	40	1	135	1	TES	7	115889085	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	1584676	115889085	43249578	40	2807											
WDR91	29062	broad.mit.edu	37	chr7	134878049	134878049	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggttcatgcccttgctGccgatgtctggtgctgagaa	6	12	12	11	1	2	1	1	1	1	1	2	3	2	1	3	2	4	3	3	2	1	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:134878049G>T	uc003vsp.2	-	10	1655	c.1593C>A	c.(1591-1593)ggC>ggA	p.G531G	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Silent_p.G120G	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	531										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						TGCCCTTGCTGCCGATGTCTG	0.622													T	134878049	G	T	134878049	2	4	45	1	0	0	0	0	0	0	0	1	17440	1306	46	4		4	WDR91	7	134878049	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	18988964	134878049	24260614	41	2808											
HTR5A	3361	broad.mit.edu	37	chr7	154863097	154863097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccaacgtcatgatcgCgctcacctgggcactctccg	6	9	9	17	5	4	1	2	1	2	0	7	1	4	1	3	1	1	2	3	1	1	0	rs150537072	byFrequency	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr7:154863097C>T	uc003wlu.1	+	0	552	c.488C>T	c.(487-489)gCg>gTg	p.A163V	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTCATGATCGCGCTCACCTGG	0.627													T	154863097	C	T	154863097	3	4	45	1	0	0	0	0	1	0	0	0	7508	768	27	1	490	1	HTR5A	7	154863097	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	19985048	154863097	4275566	42	2809											
PTK2B	2185	broad.mit.edu	37	chr8	27310672	27310672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcccccgaggctgggcGcacaggtatgtgttggctct	7	8	15	11	2	1	1	0	0	1	1	1	2	1	1	2	4	1	5	2	4	2	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:27310672G>A	uc003xfn.2	+	32	3398	c.2590G>A	c.(2590-2592)Gca>Aca	p.A864T	PTK2B_uc022ate.1_Missense_Mutation_p.A864T|PTK2B_uc003xfp.2_Missense_Mutation_p.A864T|PTK2B_uc003xfq.2_Missense_Mutation_p.A822T	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	864	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGGCTGGGCGCACAGGTATG	0.517													A	27310672	G	A	27310672	3	1	45	1	0	0	0	0	1	0	0	0	12849	1087	38	1	2696	1	PTK2B	8	27310672	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		27310672	119053350	43	2810											
TEX15	56154	broad.mit.edu	37	chr8	30705979	30705979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgtataagcattaccGgactcctgttgggctctctg	6	16	9	10	1	2	0	0	0	2	0	4	1	3	1	2	2	2	4	2	2	3	6			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr8:30705979G>A	uc003xil.3	-	0	555	c.555C>T	c.(553-555)tcC>tcT	p.S185S		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	185								p.S185S(2)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AAGCATTACCGGACTCCTGTT	0.413													A	30705979	G	A	30705979	2	1	45	1	0	0	0	0	0	0	0	1	15879	1103	39	1		1	TEX15	8	30705979	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	3395307	30705979	115658043	44	2811											
RRAGA	10670	broad.mit.edu	37	chr9	19050150	19050150	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttcgaacgtccatcTgggatgagacgctctacaaa	10	12	9	10	3	2	1	0	1	2	1	4	4	3	2	1	1	2	2	1	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:19050150T>A	uc003znj.3	+	0	779	c.493T>A	c.(493-495)Tgg>Agg	p.W165R		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	165					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						AACGTCCATCTGGGATGAGAC	0.522													A	19050150	T	A	19050150	3	1	45	1	0	0	0	0	1	0	0	0	13763	1580	55	5	495	5	RRAGA	9	19050150	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08		19050150	122163281	45	2812											
CCL19	6363	broad.mit.edu	37	chr9	34690006	34690006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacagagctggcggcccCtcagtgtggtgaacctgggg	6	7	17	11	1	1	2	1	1	0	1	1	2	1	2	3	5	3	2	3	5	1	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:34690006C>T	uc003zvn.3	-	2	335	c.197G>A	c.(196-198)aGg>aAg	p.R66K	CCL19_uc010mkf.3_Intron	NM_006274	NP_006265	Q99731	CCL19_HUMAN	Homo sapiens chemokine (C-C motif) ligand 19 (CCL19), mRNA.	66					activation of JUN kinase activity|cell communication|cell maturation|establishment of T cell polarity|immune response|immunological synapse formation|inflammatory response|interleukin-12 secretion|myeloid dendritic cell chemotaxis|negative regulation of leukocyte apoptosis|positive regulation of Cdc42 GTPase activity|positive regulation of dendritic cell antigen processing and presentation|positive regulation of ERK1 and ERK2 cascade|positive regulation of glycoprotein biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of neutrophil chemotaxis|positive regulation of NF-kappaB import into nucleus|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of receptor-mediated endocytosis|positive regulation of T cell proliferation|positive regulation of T-helper 1 cell differentiation|positive regulation of tumor necrosis factor production|regulation of cell projection assembly|release of sequestered calcium ion into cytosol|response to nitric oxide|response to prostaglandin E stimulus|response to virus|T cell costimulation	extracellular space	CCR10 chemokine receptor binding|CCR7 chemokine receptor binding|chemokine activity					all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		CTGGCGGCCCCTCAGTGTGGT	0.622													T	34690006	C	T	34690006	3	4	45	1	0	0	0	0	1	0	0	0	2918	681	24	2	107	2	CCL19	9	34690006	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	15639856	34690006	106523425	46	2813											
PAX5	5079	broad.mit.edu	37	chr9	36846902	36846902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaatactgagggtggctgTagggactcccggaaaactca	12	7	14	8	1	1	1	1	1	0	0	2	4	2	4	1	5	2	2	1	5	5	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:36846902T>C	uc003zzo.1	-	8	1485	c.1037A>G	c.(1036-1038)tAc>tGc	p.Y346C	PAX5_uc011lpt.1_Missense_Mutation_p.Y142C|PAX5_uc011lpu.1_Non-coding_Transcript|PAX5_uc011lpv.1_Intron|PAX5_uc011lqc.1_Intron|PAX5_uc010mlr.1_Missense_Mutation_p.T269A|PAX5_uc011lpw.1_Intron|PAX5_uc011lpx.1_Missense_Mutation_p.Y246C|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Intron|PAX5_uc011lpz.1_Missense_Mutation_p.Y303C|PAX5_uc011lqa.1_Missense_Mutation_p.Y238C|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.Y312C|PAX5_uc010mlp.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	346					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(11)|p.Y346C(2)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGGGTGGCTGTAGGGACTCCC	0.597			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								C	36846902	T	C	36846902	3	2	45	1	0	0	0	0	1	0	0	0	11558	1638	57	3	146	3	PAX5	9	36846902	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	2156896	36846902	104366529	47	2814											
RAD23B	5887	broad.mit.edu	37	chr9	110084309	110084309	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctgtggttgacccccctCaagcagctagtactggggct	7	9	13	12	0	1	1	1	1	0	0	1	1	1	1	3	4	3	6	3	4	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:110084309C>T	uc004bde.3	+	6	1121	c.727C>T	c.(727-729)Caa>Taa	p.Q243*	RAD23B_uc011lwa.2_Nonsense_Mutation_p.Q243*|RAD23B_uc022blj.1_Nonsense_Mutation_p.Q171*|RAD23B_uc011lwb.2_Nonsense_Mutation_p.Q222*	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	243					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TGACCCCCCTCAAGCAGCTAG	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					T	110084309	C	T	110084309	4	4	45	1	0	0	0	0	0	1	0	0	13071	827	29	2	753	2	RAD23B	9	110084309	Nonsense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	73237407	110084309	31129122	48	2815											
C9orf91	203197	broad.mit.edu	37	chr9	117396107	117396107	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagccctcctgagacaccgGgtgctgctgggggtgacaga	7	6	17	11	1	0	3	0	2	0	2	1	5	1	4	3	4	3	2	3	4	0	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:117396107G>A	uc004bjd.4	+	5	751	c.534G>A	c.(532-534)cgG>cgA	p.R178R	C9orf91_uc004bje.4_Silent_p.R157R|C9orf91_uc004bjf.4_Silent_p.R77R	NM_153045	NP_694590	Q5VZI3	CI091_HUMAN	Homo sapiens chromosome 9 open reading frame 91 (C9orf91), mRNA.	178						integral to membrane				endometrium(2)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	13						TGAGACACCGGGTGCTGCTGG	0.567													A	117396107	G	A	117396107	2	1	45	1	0	0	0	0	0	0	0	1	2531	1219	43	2		2	C9orf91	9	117396107	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	7311798	117396107	23817324	49	2816											
SEC16A	9919	broad.mit.edu	37	chr9	139358176	139358176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcctcctgctcagacGtgtgctgcagcaaggcctac	7	9	10	15	1	2	1	1	0	1	1	4	1	3	1	3	1	5	5	3	1	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr9:139358176G>A	uc004chx.3	-	9	4772	c.4463C>T	c.(4462-4464)aCg>aTg	p.T1488M	SEC16A_uc004chv.4_Missense_Mutation_p.T878M|SEC16A_uc004chw.3_Missense_Mutation_p.T1488M|SEC16A_uc010nbn.3_Missense_Mutation_p.T1488M	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1310					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTGCTCAGACGTGTGCTGCAG	0.647													A	139358176	G	A	139358176	3	1	45	1	0	0	0	0	1	0	0	0	14079	1145	40	1	2702	1	SEC16A	9	139358176	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	21962069	139358176	1855255	50	2817											
PLXDC2	84898	broad.mit.edu	37	chr10	20466312	20466312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcagattggcttcaaCtgcagttggtgtagtaaact	9	15	9	8	0	3	1	2	0	2	1	4	1	3	1	0	2	3	5	0	2	4	6			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr10:20466312C>G	uc001iqg.1	+	8	1672	c.1035C>G	c.(1033-1035)aaC>aaG	p.N345K	PLXDC2_uc001iqh.1_Missense_Mutation_p.N296K|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	345	PSI.					integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TTGGCTTCAACTGCAGTTGGT	0.313													G	20466312	C	G	20466312	3	3	45	1	0	0	0	0	1	0	0	0	12195	564	20	4	1069	4	PLXDC2	10	20466312	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		20466312	115068435	51	2818											
OR4X2	119764	broad.mit.edu	37	chr11	48266683	48266683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatttttctggtacttTctcccaaccaggaggtgcag	9	14	8	10	0	3	0	1	0	2	0	4	1	3	1	2	3	3	2	2	3	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:48266683T>C	uc001ngs.1	+	0	28	c.28T>C	c.(28-30)Tct>Cct	p.S10P		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCTGGTACTTTCTCCCAACCA	0.423													C	48266683	T	C	48266683	3	2	45	1	0	0	0	0	1	0	0	0	11161	1783	62	3	30	3	OR4X2	11	48266683	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08		48266683	86739833	52	2819											
LRRC55	219527	broad.mit.edu	37	chr11	56950158	56950158	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatccagcgctgtacagcagGtaatagaggggcagaacggg	12	5	16	8	2	0	2	0	0	0	2	1	3	1	2	1	4	4	5	1	4	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:56950158G>A	uc001njl.2	+	1	937	c.790_splice	c.e1+1	p.D264_splice		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	234	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGTACAGCAGGTAATAGAGGG	0.587													A	56950158	G	A	56950158	5	1	45	1	0	0	0	0	0	0	1	0	9081	1275	44	2	793	2	LRRC55	11	56950158	Splice_Site	SNP	G	TCGA-06-0214-01A-02D-1491-08	8683475	56950158	78056358	53	2820											
APLNR	187	broad.mit.edu	37	chr11	57003536	57003536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaggcctggcggaagcGggggtcgaaaaaggcataga	11	4	19	7	3	0	1	0	0	0	1	1	3	0	2	1	7	2	2	1	7	4	1	rs137997556		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57003536G>A	uc001njo.3	-	0	1392	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	APLNR_uc001njn.4_Non-coding_Transcript	NM_005161	NP_005152	P35414	APJ_HUMAN	Homo sapiens apelin receptor (APLNR), transcript variant 1, mRNA.	315						integral to plasma membrane	G-protein coupled receptor activity	p.R315C(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGCGGAAGCGGGGGTCGAAA	0.587													A	57003536	G	A	57003536	3	1	45	1	0	0	0	0	1	0	0	0	780	1116	39	1	203	1	APLNR	11	57003536	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	53378	57003536	78002980	54	2821											
SMTNL1	219537	broad.mit.edu	37	chr11	57310651	57310651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctctcaggaggagaCaggccagaggaaagagtgca	14	3	15	9	0	1	3	1	0	1	3	2	7	1	5	2	4	2	1	2	4	1	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:57310651C>T	uc021qjh.1	+	0	538	c.536C>T	c.(535-537)aCa>aTa	p.T179I		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	179										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						CAGGAGGAGACAGGCCAGAGG	0.547													T	57310651	C	T	57310651	3	4	45	1	0	0	0	0	1	0	0	0	14909	478	17	2	596	2	SMTNL1	11	57310651	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	307115	57310651	77695865	55	2822											
CD248	57124	broad.mit.edu	37	chr11	66082764	66082764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gataatgggaagctgggtggCctgggttctgaggacaaggg	9	8	19	5	0	1	1	0	1	1	0	1	4	1	3	1	6	1	2	1	6	3	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr11:66082764C>T	uc001ohm.1	-	0	1752	c.1735G>A	c.(1735-1737)Gcc>Acc	p.A579T		NM_020404	NP_065137	Q9HCU0	CD248_HUMAN	Homo sapiens CD248 molecule, endosialin (CD248), mRNA.	579	Pro-rich.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	AGCTGGGTGGCCTGGGTTCTG	0.612													T	66082764	C	T	66082764	3	4	45	1	0	0	0	0	1	0	0	0	3019	739	26	2	542	2	CD248	11	66082764	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	8772113	66082764	68923752	56	2823											
C12orf57	113246	broad.mit.edu	37	chr12	7054965	7054965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcgcttggtcaagtcCtacgaagcccaggatcctga	8	11	10	12	2	1	1	1	1	0	0	4	3	3	2	3	2	3	2	3	2	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7054965C>T	uc001qrz.3	+	2	343	c.261C>T	c.(259-261)tcC>tcT	p.S87S	PTPN6_uc001qsa.1_5'Flank|PTPN6_uc010sfr.1_5'Flank	NM_138425	NP_612434	Q99622	C10_HUMAN	Homo sapiens chromosome 12 open reading frame 57 (C12orf57), mRNA.	87										kidney(1)|large_intestine(1)	2						TGGTCAAGTCCTACGAAGCCC	0.602													T	7054965	C	T	7054965	2	4	45	1	0	0	0	0	0	0	0	1	1714	668	24	2		2	C12orf57	12	7054965	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		7054965	126796930	57	2824											
ACSM4	341392	broad.mit.edu	37	chr12	7469737	7469737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccatattttgcagattcGcctctgaagagcacagctgt	9	12	10	10	1	1	3	0	1	1	2	3	3	2	3	2	1	3	3	2	1	2	4	rs139422294	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:7469737G>A	uc001qsx.1	+	3	625	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	209					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.F208F(1)		endometrium(6)|kidney(1)|lung(14)	21						TTGCAGATTCGCCTCTGAAGA	0.483													A	7469737	G	A	7469737	3	1	45	1	0	0	0	0	1	0	0	0	186	1087	38	1	639	1	ACSM4	12	7469737	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	414772	7469737	126382158	58	2825											
TM7SF3	51768	broad.mit.edu	37	chr12	27127064	27127064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttccataacttgtatGggtggggagggaagaacggt	9	11	15	6	1	0	1	0	0	0	1	1	3	1	3	1	5	3	2	1	5	4	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:27127064G>A	uc010sjl.2	-	11	1785	c.1547C>T	c.(1546-1548)cCa>cTa	p.P516L		NM_016551	NP_057635	Q9NS93	TM7S3_HUMAN	Homo sapiens transmembrane 7 superfamily member 3 (TM7SF3), mRNA.	516						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	18	Colorectal(261;0.0847)					TAACTTGTATGGGTGGGGAGG	0.493													A	27127064	G	A	27127064	3	1	45	1	0	0	0	0	1	0	0	0	16075	1348	47	2	169	2	TM7SF3	12	27127064	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	19657327	27127064	106724831	59	2826											
DIP2B	57609	broad.mit.edu	37	chr12	51122397	51122397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgagttgtactcttctCggcagatcgccatctgcctt	6	14	10	11	2	3	2	0	1	3	1	5	2	3	2	2	1	2	3	2	1	1	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:51122397C>T	uc001rwv.3	+	29	3733	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	DIP2B_uc009zlt.3_Missense_Mutation_p.R623W	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	1193						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						GTACTCTTCTCGGCAGATCGC	0.532													T	51122397	C	T	51122397	3	4	45	1	0	0	0	0	1	0	0	0	4567	875	31	1	3695	1	DIP2B	12	51122397	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	23995333	51122397	82729498	60	2827											
ACACB	32	broad.mit.edu	37	chr12	109680275	109680275	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcggcaacaagcaagggCcccagcacgggatgctgatc	10	5	12	14	2	0	1	0	1	0	0	2	2	0	2	3	3	4	4	3	3	3	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:109680275C>G	uc001tob.3	+	36	5175	c.5056C>G	c.(5056-5058)Ccc>Gcc	p.P1686A	ACACB_uc001toc.3_Missense_Mutation_p.P1686A|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.P352A	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1686					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CAAGCAAGGGCCCCAGCACGG	0.522													G	109680275	C	G	109680275	3	3	45	1	0	0	0	0	1	0	0	0	107	739	26	4	5198	4	ACACB	12	109680275	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	58557878	109680275	24171620	61	2828											
KSR2	283455	broad.mit.edu	37	chr12	118298128	118298128	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgcacatcgacgattcGgaaccagtgccgtagctggg	8	8	13	12	5	0	0	0	0	0	0	2	3	0	1	2	2	4	3	2	2	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr12:118298128G>A	uc001two.2	-	1	257	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	97					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCGACGATTCGGAACCAGTGC	0.627													A	118298128	G	A	118298128	4	1	45	1	0	0	0	0	0	1	0	0	8641	1124	39	1	2639	1	KSR2	12	118298128	Nonsense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	8617853	118298128	15553767	62	2829											
RBM25	58517	broad.mit.edu	37	chr14	73569957	73569957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaggaaattgagaaagaaCggagagaaagagagagggag	20	2	17	2	1	0	5	0	1	0	5	0	12	0	8	0	3	1	0	0	3	4	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr14:73569957C>T	uc010ttu.2	+	10	1201	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RBM25_uc001xno.3_Missense_Mutation_p.R309W|RBM25_uc001xnp.3_Missense_Mutation_p.R104W	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	309	Arg-rich.|Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		tgagaaagaacggagagaaag	0.428													T	73569957	C	T	73569957	3	4	45	1	0	0	0	0	1	0	0	0	13213	527	19	1	959	1	RBM25	14	73569957	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08		73569957	33779583	63	2830											
MKRN3	7681	broad.mit.edu	37	chr15	23811493	23811493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgagagagacaatgcagaCcgtggagctgctggaggagc	11	4	17	9	2	0	3	0	0	0	3	0	8	0	6	2	3	4	3	2	3	1	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:23811493C>T	uc001ywh.4	+	0	1040	c.564C>T	c.(562-564)gaC>gaT	p.D188D	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.D188D	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	188						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.A187A(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		ACAATGCAGACCGTGGAGCTG	0.617													T	23811493	C	T	23811493	2	4	45	1	0	0	0	0	0	0	0	1	9683	506	18	2		2	MKRN3	15	23811493	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		23811493	78719899	64	2831											
GABRA5	2558	broad.mit.edu	37	chr15	27193227	27193227	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaccctctgaagagaagacTtctgaaagcaaaaagactta	19	7	7	8	0	2	5	0	2	2	3	2	6	2	5	1	0	2	1	1	0	7	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:27193227T>A	uc001zbd.2	+	10	1768	c.1236T>A	c.(1234-1236)acT>acA	p.T412T	GABRA5_uc021sgi.1_Silent_p.T412T|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	412					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGAGAAGACTTCTGAAAGCA	0.453													A	27193227	T	A	27193227	2	1	45	1	0	0	0	0	0	0	0	1	6216	1596	56	5		5	GABRA5	15	27193227	Silent	SNP	T	TCGA-06-0214-01A-02D-1491-08	3381734	27193227	75338165	65	2832											
DNAJA4	55466	broad.mit.edu	37	chr15	78567950	78567950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggatcatagtgtctttCagagacgaggccatgacttg	12	10	12	7	1	3	3	2	1	1	2	3	6	3	4	1	2	0	0	1	2	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:78567950C>G	uc002bdi.3	+	5	1013	c.844C>G	c.(844-846)Cag>Gag	p.Q282E	DNAJA4_uc002bdj.2_Missense_Mutation_p.Q253E|DNAJA4_uc002bdk.3_Missense_Mutation_p.Q226E|DNAJA4_uc002bdm.2_Missense_Mutation_p.Q37E	NM_018602	NP_001123654	Q8WW22	DNJA4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily A, member 4 (DNAJA4), transcript variant 1, mRNA.	253					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						TAGTGTCTTTCAGAGACGAGG	0.413													G	78567950	C	G	78567950	3	3	45	1	0	0	0	0	1	0	0	0	4653	827	29	4	921	4	DNAJA4	15	78567950	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	51374723	78567950	23963442	66	2833											
LRRC28	123355	broad.mit.edu	37	chr15	99901711	99901711	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctaccacagcttgcTgaaaggtacgtgggacttct	10	11	9	11	1	2	1	1	1	1	0	2	2	2	2	2	2	5	3	2	2	4	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr15:99901711T>A	uc002bva.1	+	7	1021	c.866T>A	c.(865-867)cTg>cAg	p.L289Q	LRRC28_uc010urs.1_Non-coding_Transcript|LRRC28_uc002bvb.1_Missense_Mutation_p.L135Q|LRRC28_uc010urt.1_Missense_Mutation_p.L103Q|LRRC28_uc002bvc.1_Missense_Mutation_p.L289Q|LRRC28_uc010uru.1_Missense_Mutation_p.L220Q|LRRC28_uc002bvd.1_Intron	NM_144598	NP_653199	Q86X40	LRC28_HUMAN	Homo sapiens leucine rich repeat containing 28 (LRRC28), mRNA.	289										endometrium(2)|large_intestine(3)|lung(6)|prostate(1)	12	Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00106)			CACAGCTTGCTGAAAGGTACG	0.458											OREG0023509	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	99901711	T	A	99901711	3	1	45	1	0	0	0	0	1	0	0	0	9052	1580	55	5	892	5	LRRC28	15	99901711	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	21333761	99901711	2629681	67	2834											
RBBP6	5930	broad.mit.edu	37	chr16	24583037	24583037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcacaaagccacttatgaTactaaacggccaaatgaaga	18	7	7	9	1	1	3	1	2	0	1	1	4	1	3	2	1	3	0	2	1	7	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr16:24583037T>C	uc002dmh.3	+	17	5690	c.4650T>C	c.(4648-4650)gaT>gaC	p.D1550D	RBBP6_uc002dmi.3_Silent_p.D1516D|RBBP6_uc010bxr.3_Silent_p.D710D|RBBP6_uc002dmk.3_Silent_p.D1383D	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1550					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CCACTTATGATACTAAACGGC	0.363													C	24583037	T	C	24583037	2	2	45	1	0	0	0	0	0	0	0	1	13191	1403	49	3		3	RBBP6	16	24583037	Silent	SNP	T	TCGA-06-0214-01A-02D-1491-08		24583037	65771716	68	2835											
PITPNA	5306	broad.mit.edu	37	chr17	1456417	1456417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttttactggcctcagcCacagaatacagctgccccac	10	10	6	15	0	2	1	2	0	0	1	2	1	2	1	4	1	5	1	4	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:1456417C>T	uc021tng.1	-	2	334	c.78G>A	c.(76-78)gtG>gtA	p.V26V	PITPNA_uc021tnf.1_5'UTR|PITPNA_uc010cjt.3_5'UTR|PITPNA_uc010vqn.1_Non-coding_Transcript	NM_006224	NP_006215	Q00169	PIPNA_HUMAN	Homo sapiens phosphatidylinositol transfer protein, alpha (PITPNA), mRNA.	26					axon guidance|lipid metabolic process|visual perception	cytoplasm	phosphatidylcholine transmembrane transporter activity|phosphatidylinositol transporter activity|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.0845)		TGGCCTCAGCCACAGAATACA	0.512													T	1456417	C	T	1456417	2	4	45	1	0	0	0	0	0	0	0	1	12024	581	21	2		2	PITPNA	17	1456417	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08		1456417	79738793	69	2836											
SLC47A1	55244	broad.mit.edu	37	chr17	19459334	19459334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcatggtggagctgggcGctcagtccatcgtgtatgaa	7	10	15	9	3	1	1	1	1	0	0	4	2	2	2	1	4	1	4	1	4	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:19459334G>A	uc002gvx.3	+	9	966	c.880G>A	c.(880-882)Gct>Act	p.A294T	SLC47A1_uc010vyy.1_Non-coding_Transcript|SLC47A1_uc002gvy.1_Missense_Mutation_p.A294T|SLC47A1_uc010vyz.1_Missense_Mutation_p.A271T|SLC47A1_uc010cqp.1_Intron|SLC47A1_uc010cqq.1_Missense_Mutation_p.A99T|SLC47A1_uc010vza.1_Missense_Mutation_p.A6T|SLC47A1_uc010vzb.1_Missense_Mutation_p.A28T|SLC47A1_uc010vzc.1_5'UTR|SNORA59B_uc002gvz.1_5'Flank	NM_018242	NP_060712	Q96FL8	S47A1_HUMAN	Homo sapiens solute carrier family 47, member 1 (SLC47A1), mRNA.	294						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					GGAGCTGGGCGCTCAGTCCAT	0.582													A	19459334	G	A	19459334	3	1	45	1	0	0	0	0	1	0	0	0	14741	1087	38	1	918	1	SLC47A1	17	19459334	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	18002917	19459334	61735876	70	2837											
KSR1	8844	broad.mit.edu	37	chr17	25909866	25909866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgcccgcctcagactccCccacccccagcttcagtgag	6	7	7	21	1	3	2	2	1	1	1	4	2	4	2	6	0	2	1	6	0	0	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:25909866C>T	uc010crg.3	+	4	749	c.304C>T	c.(304-306)Ccc>Tcc	p.P102S	KSR1_uc002gzj.1_Intron	NM_014238	NP_055053	Q8IVT5	KSR1_HUMAN	Homo sapiens kinase suppressor of ras 1 (KSR1), mRNA.	237					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CTCAGACTCCCCCACCCCCAG	0.706													T	25909866	C	T	25909866	3	4	45	1	0	0	0	0	1	0	0	0	8640	623	22	2	310	2	KSR1	17	25909866	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	6450532	25909866	55285344	71	2838											
NF1	4763	broad.mit.edu	37	chr17	29654793	29654793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccaagattcggccaaaaGatgtccctgggacactgctc	12	7	9	13	1	0	2	0	0	0	2	3	3	1	3	3	2	1	1	3	2	3	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:29654793G>A	uc002hgg.3	+	37	5928	c.5545G>A	c.(5545-5547)Gat>Aat	p.D1849N	NF1_uc002hgh.3_Missense_Mutation_p.D1828N|NF1_uc002hgi.1_Missense_Mutation_p.D861N|NF1_uc010cso.3_Missense_Mutation_p.D37N	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1849					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.D1849N(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCGGCCAAAAGATGTCCCTGG	0.468			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29654793	G	A	29654793	3	1	45	1	0	0	0	0	1	0	0	0	10432	942	33	2	5756	2	NF1	17	29654793	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	3744927	29654793	51540417	72	2839											
CALCOCO2	10241	broad.mit.edu	37	chr17	46937756	46937756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtatcaagtacctacttcAgatgaaggaggcgcaagaca	14	7	10	10	2	2	3	2	1	0	2	2	4	2	4	2	2	2	3	2	2	6	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:46937756A>G	uc010wlr.2	+	11	1240	c.1161A>G	c.(1159-1161)tcA>tcG	p.S387S	CALCOCO2_uc010wlq.2_Silent_p.S291S|CALCOCO2_uc010wls.2_Silent_p.S321S|CALCOCO2_uc002iof.3_Silent_p.S363S|CALCOCO2_uc010wlp.2_Silent_p.S384S	NM_005831	NP_005822	Q13137	CACO2_HUMAN	Homo sapiens calcium binding and coiled-coil domain 2 (CALCOCO2), mRNA.	363					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						TACCTACTTCAGATGAAGGAG	0.438													G	46937756	A	G	46937756	2	3	45	1	0	0	0	0	0	0	0	1	2604	175	7	3		3	CALCOCO2	17	46937756	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	17282963	46937756	34257454	73	2840											
ACE	1636	broad.mit.edu	37	chr17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggtctttagtgggcGtacccccccttcccgctaca	4	10	12	15	2	1	0	0	0	1	0	2	0	2	0	4	4	2	2	4	4	3	5			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:61560492G>A	uc002jau.2	+	8	1479	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R299H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	482	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552													A	61560492	G	A	61560492	3	1	45	1	0	0	0	0	1	0	0	0	136	1145	40	1	1479	1	ACE	17	61560492	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	14622736	61560492	19634718	74	2841											
SLC38A10	124565	broad.mit.edu	37	chr17	79220094	79220094	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgcccagggaattcctctgcGaggcgctcctctgggccccc	4	8	12	17	2	2	0	0	0	2	0	4	2	4	1	5	3	2	1	5	3	1	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr17:79220094G>C	uc002jzz.1	-	15	2997	c.2622C>G	c.(2620-2622)ctC>ctG	p.L874L	SLC38A10_uc002jzy.1_Silent_p.L792L|SLC38A10_uc021uey.1_5'UTR	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	874					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ATTCCTCTGCGAGGCGCTCCT	0.657													C	79220094	G	C	79220094	2	2	45	1	0	0	0	0	0	0	0	1	14696	1045	37	4		4	SLC38A10	17	79220094	Silent	SNP	G	TCGA-06-0214-01A-02D-1491-08	17659602	79220094	1975116	75	2842											
DLGAP1	9229	broad.mit.edu	37	chr18	3534543	3534543	+	Frame_Shift_Del	DEL	G	G	-																															agattccagagaattttccaGattatcatggaagtccaggt																										TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:3534543delG	uc002kmf.3	-	9	2655	c.2128delC	c.(2128-2130)ctgfs	p.L710fs	DLGAP1_uc010wyz.2_Frame_Shift_Del_p.L710fs|DLGAP1_uc010dkn.3_Frame_Shift_Del_p.L418fs|DLGAP1_uc002kme.2_Frame_Shift_Del_p.L408fs|DLGAP1_uc010wyw.2_Frame_Shift_Del_p.L416fs|DLGAP1_uc010wyx.2_Frame_Shift_Del_p.L432fs|DLGAP1_uc010wyy.2_Frame_Shift_Del_p.L394fs|DLGAP1_uc002kmg.3_Frame_Shift_Del_p.L408fs	NM_004746	NP_004737	O14490	DLGP1_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 1 (DLGAP1), transcript variant 1, mRNA.	710					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GAATTTTCCAGATTATCATGG	0.498													-	3534543	G	-	3534543	7	5	45	1	0	1	0	1	0	0	0	0	4598	933	33	0	821	0	DLGAP1	18	3534543	Frame_Shift_Del	DEL	G	TCGA-06-0214-01A-02D-1491-08		3534543	74542705	76	2843											
NAPG	8774	broad.mit.edu	37	chr18	10548993	10548993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaatggcagtgaagactGtgctgccctggaacagcttc	9	10	12	10	0	1	2	1	1	0	1	2	3	1	3	1	2	4	4	1	2	3	2			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr18:10548993G>A	uc002kon.3	+	10	922	c.695G>A	c.(694-696)tGt>tAt	p.C232Y	NAPG_uc010wzr.2_Missense_Mutation_p.C150Y|NAPG_uc002kop.3_Missense_Mutation_p.C145Y	NM_003826	NP_003817	Q99747	SNAG_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, gamma (NAPG), mRNA.	232					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGTGAAGACTGTGCTGCCCTG	0.473													A	10548993	G	A	10548993	3	1	45	1	0	0	0	0	1	0	0	0	10240	1377	48	2	737	2	NAPG	18	10548993	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	7014450	10548993	67528255	77	2844											
MUC16	94025	broad.mit.edu	37	chr19	9048365	9048365	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgataccccaggtgaaacaGttggagttggaacagctgag	12	8	13	8	0	0	3	0	3	0	0	0	5	0	5	2	3	4	3	2	3	3	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:9048365G>T	uc002mkp.3	-	4	33470	c.33266C>A	c.(33265-33267)aCt>aAt	p.T11089N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11091	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						AGGTGAAACAGTTGGAGTTGG	0.488													T	9048365	G	T	9048365	3	4	45	1	0	0	0	0	1	0	0	0	10049	1029	36	4	10577	4	MUC16	19	9048365	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		9048365	50080618	78	2845											
NFIX	4784	broad.mit.edu	37	chr19	13201118	13201118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctccccacagcattcGcaacgacaggcgcctcctct	7	7	7	20	3	1	0	0	0	1	0	4	1	3	0	5	1	3	3	5	1	1	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:13201118G>A	uc010xmx.2	+	9	1485	c.1432G>A	c.(1432-1434)Gca>Aca	p.A478T	NFIX_uc002mwd.3_Silent_p.S420S|NFIX_uc002mwe.3_Silent_p.S412S|NFIX_uc002mwf.3_Silent_p.S382S|NFIX_uc002mwg.2_Silent_p.S419S			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	470					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CACAGCATTCGCAACGACAGG	0.642													A	13201118	G	A	13201118	3	1	45	1	0	0	0	0	1	0	0	0	10450	1074	38	1	1294	1	NFIX	19	13201118	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08	4152753	13201118	45927865	79	2846											
CCDC105	126402	broad.mit.edu	37	chr19	15132653	15132653	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcacctggagaccgcagaAaagctggacagacccctggt	11	6	12	12	1	1	3	1	0	0	3	1	5	1	4	4	3	1	3	4	3	2	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:15132653A>G	uc002nae.2	+	5	1272	c.1173A>G	c.(1171-1173)gaA>gaG	p.E391E		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	391					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AGACCGCAGAAAAGCTGGACA	0.647													G	15132653	A	G	15132653	2	3	45	1	0	0	0	0	0	0	0	1	2766	11	1	3		3	CCDC105	19	15132653	Silent	SNP	A	TCGA-06-0214-01A-02D-1491-08	1931535	15132653	43996330	80	2847											
CLPTM1	1209	broad.mit.edu	37	chr19	45494188	45494188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtatatcgagtcctcgacCaaagtgtatgatgatgtgag	12	11	11	7	3	0	3	0	3	0	0	3	5	1	3	2	0	0	2	2	0	4	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45494188C>T	uc002pai.3	+	10	1458	c.1404C>T	c.(1402-1404)acC>acT	p.T468T	CLPTM1_uc010xxf.2_Silent_p.T366T|CLPTM1_uc010xxg.2_Silent_p.T454T|CLPTM1_uc021uvo.1_5'Flank	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	468					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGTCCTCGACCAAAGTGTATG	0.607													T	45494188	C	T	45494188	2	4	45	1	0	0	0	0	0	0	0	1	3585	581	21	2		2	CLPTM1	19	45494188	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	30361535	45494188	13634795	81	2848											
ERCC1	2067	broad.mit.edu	37	chr19	45923654	45923654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccaaattcccagggcacaTtgcgcacgaacttcagtacg	11	7	9	14	4	1	0	1	0	0	0	2	1	2	0	2	1	3	3	2	1	3	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:45923654T>C	uc002pbs.2	-	3	499	c.353A>G	c.(352-354)aAt>aGt	p.N118S	ERCC1_uc002pbt.2_Missense_Mutation_p.N118S|ERCC1_uc002pbu.2_Missense_Mutation_p.N46S|ERCC1_uc002pbv.3_Missense_Mutation_p.N118S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	118					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CCAGGGCACATTGCGCACGAA	0.597								Nucleotide excision repair (NER)					C	45923654	T	C	45923654	3	2	45	1	0	0	0	0	1	0	0	0	5253	1493	52	3	697	3	ERCC1	19	45923654	Missense_Mutation	SNP	T	TCGA-06-0214-01A-02D-1491-08	429466	45923654	13205329	82	2849											
PRR12	57479	broad.mit.edu	37	chr19	50099367	50099367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggcaaatacctgagctCagtcttggcctcagcgcctt	7	10	9	15	1	3	1	2	1	1	0	3	1	3	1	4	2	3	2	4	2	2	3			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:50099367C>T	uc002poo.4	+	3	1775	c.1775C>T	c.(1774-1776)tCa>tTa	p.S592L		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	356	Pro-rich.						DNA binding	p.G592V(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TACCTGAGCTCAGTCTTGGCC	0.657													T	50099367	C	T	50099367	3	4	45	1	0	0	0	0	1	0	0	0	12670	838	29	2	1789	2	PRR12	19	50099367	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	4175713	50099367	9029616	83	2850											
LENG8	114823	broad.mit.edu	37	chr19	54968952	54968952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtcgctgtgcatggtCaagtgccactggaaagagaa	15	7	12	7	1	1	1	1	0	0	1	2	3	1	2	1	2	2	2	1	2	5	0	rs142424676	by1000genomes	TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:54968952C>A	uc002qfv.1	+	10	1791	c.1647C>A	c.(1645-1647)gtC>gtA	p.V549V	LENG8_uc002qfw.2_Silent_p.V586V			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	549							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGTGCATGGTCAAGTGCCACT	0.537													A	54968952	C	A	54968952	2	1	45	1	0	0	0	0	0	0	0	1	8783	813	29	4		4	LENG8	19	54968952	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	4869585	54968952	4160031	84	2851											
ZNF552	79818	broad.mit.edu	37	chr19	58319417	58319417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgcactcataagccCtttcttttgtgaactctctg	8	15	5	13	0	4	1	2	1	2	0	5	1	4	1	1	0	3	1	1	0	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr19:58319417C>T	uc002qqg.3	-	2	1385	c.1215G>A	c.(1213-1215)aaG>aaA	p.K405K	ZNF587_uc002qqb.2_Intron|ZNF552_uc010yhg.2_Silent_p.K401K	NM_024762	NP_079038	Q9H707	ZN552_HUMAN	Homo sapiens zinc finger protein 552 (ZNF552), mRNA.	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		CTCATAAGCCCTTTCTTTTGT	0.398													T	58319417	C	T	58319417	2	4	45	1	0	0	0	0	0	0	0	1	18085	680	24	2		2	ZNF552	19	58319417	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	3350465	58319417	809566	85	2852											
SIRPG	55423	broad.mit.edu	37	chr20	1615912	1615912	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaattttgagtaacctcaCcaggggtagcatctgagctc	13	10	9	9	0	2	2	1	2	1	0	3	2	2	2	2	2	3	4	2	2	4	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:1615912C>T	uc002wfm.1	-	4	1146	c.1081_splice	c.e4+1	p.G361_splice	SIRPG_uc002wfn.1_Intron|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	361					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						AGTAACCTCACCAGGGGTAGC	0.428													T	1615912	C	T	1615912	5	4	45	1	0	0	0	0	0	0	1	0	14430	521	18	2	89	2	SIRPG	20	1615912	Splice_Site	SNP	C	TCGA-06-0214-01A-02D-1491-08		1615912	61409608	86	2853											
TSHZ2	128553	broad.mit.edu	37	chr20	51872367	51872367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccccacctcagaagcaCgctctgtctgacatcgccga	9	8	8	16	3	3	2	1	1	2	1	5	3	4	2	4	0	1	2	4	0	1	0	rs138612067		TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:51872367C>T	uc002xwo.3	+	1	3257	c.2370C>T	c.(2368-2370)caC>caT	p.H790H	TSHZ2_uc021wex.1_Silent_p.H787H	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	790					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.H790H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGAAGCACGCTCTGTCTG	0.557													T	51872367	C	T	51872367	2	4	45	1	0	0	0	0	0	0	0	1	16725	535	19	1		1	TSHZ2	20	51872367	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	50256455	51872367	11153153	87	2854											
ADRM1	11047	broad.mit.edu	37	chr20	60882680	60882680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagtcggcagcggtcaccCcgtcatccaccacctcttcc	6	7	8	20	3	3	0	2	0	1	0	6	0	5	0	7	2	1	1	7	2	0	1			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr20:60882680C>T	uc002ycn.3	+	6	732	c.652C>T	c.(652-654)Ccg>Tcg	p.P218S	ADRM1_uc002yco.3_Missense_Mutation_p.P218S	NM_007002	NP_783163	Q16186	ADRM1_HUMAN	Homo sapiens adhesion regulating molecule 1 (ADRM1), transcript variant 1, mRNA.	218	Ser-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AGCGGTCACCCCGTCATCCAC	0.701													T	60882680	C	T	60882680	3	4	45	1	0	0	0	0	1	0	0	0	345	623	22	2	674	2	ADRM1	20	60882680	Missense_Mutation	SNP	C	TCGA-06-0214-01A-02D-1491-08	9010313	60882680	2142840	88	2855											
OSBP2	23762	broad.mit.edu	37	chr22	31137177	31137177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatggcccacacgtgccGtggaaccatcaacctgtcca	11	7	9	14	2	1	1	1	1	0	0	2	2	2	2	5	2	3	0	5	2	3	0			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:31137177G>A	uc003aiy.1	+	1	778	c.674G>A	c.(673-675)cGt>cAt	p.R225H	OSBP2_uc011ala.1_Missense_Mutation_p.R60H|OSBP2_uc010gwc.1_Missense_Mutation_p.R52H|OSBP2_uc003aix.1_Missense_Mutation_p.R225H|OSBP2_uc011alb.1_Missense_Mutation_p.R225H|OSBP2_uc003aiz.1_Missense_Mutation_p.R225H	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	225	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CACACGTGCCGTGGAACCATC	0.542													A	31137177	G	A	31137177	3	1	45	1	0	0	0	0	1	0	0	0	11350	1145	40	1	680	1	OSBP2	22	31137177	Missense_Mutation	SNP	G	TCGA-06-0214-01A-02D-1491-08		31137177	20167389	89	2856											
EP300	2033	broad.mit.edu	37	chr22	41564810	41564810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaattgatggtgttgacCtgtgcttctttggcatgcat	9	15	11	6	0	1	3	0	2	1	1	1	3	1	3	1	2	2	4	1	2	2	4			TCGA-06-0214-01A-02D-1491-08	TCGA-06-0214-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08ac57ec-0036-4134-a9bb-f22eaa27ab0d	fc3f70c0-3e8f-4146-a308-8a71cb1031a0	g.chr22:41564810C>T	uc003azl.4	+	24	4506	c.4111C>T	c.(4111-4113)Ctg>Ttg	p.L1371L		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1371					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TGGTGTTGACCTGTGCTTCTT	0.478			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				T	41564810	C	T	41564810	2	4	45	1	0	0	0	0	0	0	0	1	5189	680	24	2		2	EP300	22	41564810	Silent	SNP	C	TCGA-06-0214-01A-02D-1491-08	10427633	41564810	9739756	90	2857											
RSPO1	284654	broad.mit.edu	37	chr1	38082340	38082340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggcctggctcccctcGgcactgactgcaaaggtgga	8	6	13	14	1	0	1	0	1	0	0	2	2	1	2	3	5	1	4	3	5	1	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:38082340G>A	uc001cbl.2	-	4	994	c.102C>T	c.(100-102)gcC>gcT	p.A34A	RSPO1_uc009vvf.2_Silent_p.A7A|RSPO1_uc001cbm.2_Silent_p.A34A|RSPO1_uc009vvg.2_Silent_p.A34A	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	34					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTCGGCACTGACTG	0.557													A	38082340	G	A	38082340	2	1	46	1	0	0	0	0	0	0	0	1	13800	1103	39	1		1	RSPO1	1	38082340	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08		38082340	211168281	1	2858											
RPL5	6125	broad.mit.edu	37	chr1	93301897	93301898	+	Frame_Shift_Ins	INS	-	-	T																															aactaccactggcaataaagINStttttggtgccctgaaggga																										TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:93301897_93301898insT	uc001doz.3	+	4	553_554	c.475_476insT	c.(475-477)gttfs	p.V159fs	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Frame_Shift_Ins_p.V109fs|RPL5_uc001dpd.3_5'UTR|SNORD21_uc001dpe.2_5'Flank|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	159					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TGGCAATAAAGTTTTTGGTGCC	0.495													T	93301898	-	T	93301897	7	5	46	1	0	1	1	0	0	0	0	0	13688	1029	36	0	493	0	RPL5	1	93301897	Frame_Shift_Ins	INS	-	TCGA-06-0216-01B-01D-1492-08	55219557	93301897	155948724	2	2859											
HIPK1	204851	broad.mit.edu	37	chr1	114515777	114515777	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcagcccgctacactcGacagggcacccacaccttgc	9	5	9	18	2	0	0	0	0	0	0	1	1	0	0	3	2	3	3	3	2	1	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:114515777G>T	uc001eem.3	+	15	3437	c.3276G>T	c.(3274-3276)tcG>tcT	p.S1092S	HIPK1_uc001een.3_Silent_p.S1092S|HIPK1_uc001eeo.3_Silent_p.S718S|HIPK1_uc001eep.3_Silent_p.S698S|HIPK1_uc001eeq.3_Silent_p.S384S	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	1092	Interaction with TP53.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGCTACACTCGACAGGGCACC	0.647													T	114515777	G	T	114515777	2	4	46	1	0	0	0	0	0	0	0	1	7171	1045	37	4		4	HIPK1	1	114515777	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	21213880	114515777	134734844	3	2860											
CD2	914	broad.mit.edu	37	chr1	117311264	117311264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctggacaccgtgttcaGcaccagcctcagaagaggcc	9	6	10	16	1	2	2	2	0	0	2	3	3	3	3	6	2	2	2	6	2	1	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:117311264G>A	uc001egu.4	+	4	944	c.915G>A	c.(913-915)caG>caA	p.Q305Q		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	305	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	ACCGTGTTCAGCACCAGCCTC	0.622													A	117311264	G	A	117311264	2	1	46	1	0	0	0	0	0	0	0	1	3009	962	34	2		2	CD2	1	117311264	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	2795487	117311264	131939357	4	2861											
TCHH	7062	broad.mit.edu	37	chr1	152084995	152084995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaacactctgtcttgcCgctctcgcctttgctgctgt	3	14	9	15	2	3	0	0	0	3	0	4	1	3	1	3	1	4	3	3	1	1	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:152084995C>T	uc009wne.1	-	2	970	c.698G>A	c.(697-699)cGg>cAg	p.R233Q	TCHH_uc001ezp.2_Missense_Mutation_p.R233Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	233					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGTCTTGCCGCTCTCGCCT	0.577													T	152084995	C	T	152084995	3	4	46	1	0	0	0	0	1	0	0	0	15800	652	23	1	5137	1	TCHH	1	152084995	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	34773731	152084995	97165626	5	2862											
PAPPA2	60676	broad.mit.edu	37	chr1	176526161	176526161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacacagggtcaaaaagagtCcaccggaggaaagcaaccaa	19	2	10	10	1	1	1	1	0	0	1	2	3	2	3	3	3	3	1	3	3	6	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:176526161C>A	uc001gkz.3	+	1	1867	c.703C>A	c.(703-705)Cca>Aca	p.P235T	PAPPA2_uc001gky.1_Missense_Mutation_p.P235T|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	235					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						CAAAAAGAGTCCACCGGAGGA	0.527													A	176526161	C	A	176526161	3	1	46	1	0	0	0	0	1	0	0	0	11509	855	30	4	705	4	PAPPA2	1	176526161	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	24441166	176526161	72724460	6	2863											
OR11L1	391189	broad.mit.edu	37	chr1	248004304	248004304	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacctttctaacagcttCtttgaagtctttgttcctca	8	17	5	11	0	4	2	1	2	3	0	5	2	5	2	2	0	2	2	2	0	2	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr1:248004304C>A	uc001idn.1	-	0	895	c.895G>T	c.(895-897)Gaa>Taa	p.E299*		NM_001001959	NP_001001959	Q8NGX0	O11L1_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily L, member 1 (OR11L1), mRNA.	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E299V(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTAACAGCTTCTTTGAAGTCT	0.393													A	248004304	C	A	248004304	4	1	46	1	0	0	0	0	0	1	0	0	11006	922	32	4	77	4	OR11L1	1	248004304	Nonsense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	71478143	248004304	1246317	7	2864											
SMEK2	57223	broad.mit.edu	37	chr2	55791468	55791468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttttagtctccataaaCttttcataattatctggaaa	12	18	3	8	0	3	0	1	0	2	0	4	1	3	1	2	1	1	0	2	1	6	8	rs145292231		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:55791468C>T	uc002rzc.3	-	14	2933	c.2241G>A	c.(2239-2241)aaG>aaA	p.K747K	SMEK2_uc002rzb.3_Silent_p.K662K|SMEK2_uc002rzd.3_Silent_p.K715K|SMEK2_uc002ryz.3_Silent_p.K174K|SMEK2_uc002rza.3_Silent_p.K531K	NM_001122964	NP_001116436	Q5MIZ7	P4R3B_HUMAN	Homo sapiens SMEK homolog 2, suppressor of mek1 (Dictyostelium) (SMEK2), transcript variant 1, mRNA.	747						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCTCCATAAACTTTTCATAAT	0.333													T	55791468	C	T	55791468	2	4	46	1	0	0	0	0	0	0	0	1	14888	564	20	2		2	SMEK2	2	55791468	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		55791468	187407905	8	2865											
TTN	7273	broad.mit.edu	37	chr2	179594120	179594120	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacttggttatatggaggtTaaacacagacactctgtcgg	12	11	10	8	1	1	1	0	0	1	1	2	2	1	2	0	4	1	2	0	4	4	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:179594120T>A	uc021vsy.1	-	60	15256	c.15031A>T	c.(15031-15033)Aac>Tac	p.N5011Y	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.N1672Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5938	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATATGGAGGTTAAACACAGAC	0.463													A	179594120	T	A	179594120	3	1	46	1	0	0	0	0	1	0	0	0	16837	1754	61	5	85962	5	TTN	2	179594120	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	123802652	179594120	63605253	9	2866											
INPP5D	3635	broad.mit.edu	37	chr2	233944058	233944058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcaggtatcggaattgcGtttacacttacagaattctg	11	15	8	7	2	2	1	1	0	1	1	3	2	2	2	0	2	3	2	0	2	5	7			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr2:233944058G>A	uc010zmo.2	+	1	301	c.148G>A	c.(148-150)Gtt>Att	p.V50I	INPP5D_uc010zmp.2_Missense_Mutation_p.V50I	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	50	SH2.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCGGAATTGCGTTTACACTTA	0.403													A	233944058	G	A	233944058	3	1	46	1	0	0	0	0	1	0	0	0	7814	1145	40	1	154	1	INPP5D	2	233944058	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	54349938	233944058	9255315	10	2867											
LRRC3B	116135	broad.mit.edu	37	chr3	26751911	26751911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagcaggcagaagaaagcaGatgaacctgatgatattagc	17	6	11	7	0	0	6	0	3	0	3	0	6	0	6	1	1	4	3	1	1	6	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:26751911G>A	uc003cdp.3	+	1	1337	c.748G>A	c.(748-750)Gat>Aat	p.D250N	LRRC3B_uc003cdq.3_Missense_Mutation_p.D250N|LRRC3B_uc021wuj.1_Missense_Mutation_p.D250N	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	250						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						GAAGAAAGCAGATGAACCTGA	0.418													A	26751911	G	A	26751911	3	1	46	1	0	0	0	0	1	0	0	0	9066	942	33	2	750	2	LRRC3B	3	26751911	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		26751911	171270519	11	2868											
AZI2	64343	broad.mit.edu	37	chr3	28381958	28381958	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctctgaatccttaagtcGttttttgatgtcttcatatg	7	21	6	7	1	3	2	1	2	2	0	6	2	4	2	1	0	0	1	1	0	3	7			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:28381958G>A	uc003ceb.3	-	1	683	c.151C>T	c.(151-153)Cga>Tga	p.R51*	AZI2_uc003cec.3_5'UTR|AZI2_uc003cee.4_Nonsense_Mutation_p.R51*|AZI2_uc011axd.1_Nonsense_Mutation_p.R51*|AZI2_uc003ceg.2_Nonsense_Mutation_p.R51*	NM_022461	NP_071906	Q9H6S1	AZI2_HUMAN	Homo sapiens 5-azacytidine induced 2 (AZI2), transcript variant 1, mRNA.	51						mitochondrion|plasma membrane		p.K50K(2)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TCCTTAAGTCGTTTTTTGATG	0.338													A	28381958	G	A	28381958	4	1	46	1	0	0	0	0	0	1	0	0	1246	1153	40	1	1144	1	AZI2	3	28381958	Nonsense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1630047	28381958	169640472	12	2869											
IMPG2	50939	broad.mit.edu	37	chr3	100951684	100951684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcattcaagcagaagtcAggctgtaggtcacagagact	13	8	10	10	0	4	2	4	0	0	2	4	3	4	2	1	2	1	3	1	2	3	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:100951684A>G	uc003duq.2	-	14	3377	c.3174T>C	c.(3172-3174)ccT>ccC	p.P1058P	IMPG2_uc011bhe.2_Silent_p.P921P|IMPG2_uc010hpj.1_Non-coding_Transcript	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	1058	EGF-like 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						AGCAGAAGTCAGGCTGTAGGT	0.488													G	100951684	A	G	100951684	2	3	46	1	0	0	0	0	0	0	0	1	7787	175	7	3		3	IMPG2	3	100951684	Silent	SNP	A	TCGA-06-0216-01B-01D-1492-08	72569726	100951684	97070746	13	2870											
DZIP3	9666	broad.mit.edu	37	chr3	108353719	108353719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacttttatttttttccaggGattttttcagttaatgtgca	8	22	6	5	0	1	0	1	0	0	0	2	1	2	1	1	1	2	2	1	1	3	10			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:108353719G>T	uc003dxd.3	+	10	1239	c.817_splice	c.e10-1	p.G273_splice	DZIP3_uc003dxf.1_Splice_Site_p.G273_splice|DZIP3_uc011bhm.2_Intron|DZIP3_uc003dxe.1_Splice_Site_p.G273_splice|DZIP3_uc003dxg.1_Splice_Site	NM_014648	NP_055463	Q86Y13	DZIP3_HUMAN	Homo sapiens DAZ interacting protein 3, zinc finger (DZIP3), mRNA.	273					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TTTTTCCAGGGATTTTTTCAG	0.254													T	108353719	G	T	108353719	3	4	46	1	0	0	0	0	1	0	0	0	4904	1188	41	4	852	4	DZIP3	3	108353719	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	7402035	108353719	89668711	14	2871											
COL6A5	256076	broad.mit.edu	37	chr3	130159044	130159044	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgcttgcattcgagaggcTttcttacctgaagattcata	11	14	8	8	1	2	3	1	1	1	2	3	4	2	3	1	1	3	3	1	1	4	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:130159044T>C	uc010htj.1	+	34	6356	c.5862T>C	c.(5860-5862)gcT>gcC	p.A1954A	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_5'UTR|COL6A5_uc010htk.1_5'UTR	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	1954	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTCGAGAGGCTTTCTTACCTG	0.403													C	130159044	T	C	130159044	2	2	46	1	0	0	0	0	0	0	0	1	3733	1596	56	3		3	COL6A5	3	130159044	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08	21805325	130159044	67863386	15	2872											
CEP70	80321	broad.mit.edu	37	chr3	138289888	138289888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcacctaagctgttgaTtagtttctataagctcctgt	8	18	6	9	0	2	1	1	1	2	0	4	1	3	1	2	0	2	4	2	0	4	7			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:138289888T>C	uc003esl.3	-	4	470	c.272A>G	c.(271-273)aAt>aGt	p.N91S	CEP70_uc011bmk.2_Missense_Mutation_p.N71S|CEP70_uc011bml.2_Missense_Mutation_p.N73S|CEP70_uc011bmm.2_Intron|CEP70_uc003esm.3_Missense_Mutation_p.N91S|CEP70_uc003esn.3_Missense_Mutation_p.N91S	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	91					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						AAGCTGTTGATTAGTTTCTAT	0.318													C	138289888	T	C	138289888	3	2	46	1	0	0	0	0	1	0	0	0	3289	1493	52	3	1577	3	CEP70	3	138289888	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	8130844	138289888	59732542	16	2873											
PHC3	80012	broad.mit.edu	37	chr3	169840418	169840418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcaaatcttctcctctccCcactgttatagctgctggag	8	13	7	13	0	4	0	1	0	3	0	6	1	4	1	3	1	2	3	3	1	3	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:169840418C>T	uc003fgl.2	-	8	1937	c.1903G>A	c.(1903-1905)Ggg>Agg	p.G635R	PHC3_uc010hws.1_Missense_Mutation_p.G623R|PHC3_uc011bpq.1_Missense_Mutation_p.G582R	NM_024947	NP_079223	Q8NDX5	PHC3_HUMAN	Homo sapiens polyhomeotic homolog 3 (Drosophila) (PHC3), mRNA.	623	Pro-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TCTCCTCTCCCCACTGTTATA	0.393													T	169840418	C	T	169840418	3	4	46	1	0	0	0	0	1	0	0	0	11895	623	22	2	1112	2	PHC3	3	169840418	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	31550530	169840418	28182012	17	2874											
FNDC3B	64778	broad.mit.edu	37	chr3	172096143	172096143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctactccttcagaatccAggcagcaagcgaggctggag	11	7	12	11	1	1	1	1	0	0	1	3	3	3	2	2	3	4	4	2	3	3	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr3:172096143A>G	uc003fhy.3	+	23	3264	c.3092A>G	c.(3091-3093)cAg>cGg	p.Q1031R	FNDC3B_uc003fhz.4_Missense_Mutation_p.Q1031R	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1031	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane		p.Q1031H(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		TTCAGAATCCAGGCAGCAAGC	0.493													G	172096143	A	G	172096143	3	3	46	1	0	0	0	0	1	0	0	0	6019	188	7	3	3182	3	FNDC3B	3	172096143	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	2255725	172096143	25926287	18	2875											
SH3TC1	54436	broad.mit.edu	37	chr4	8229589	8229589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacagccgcaagtgcctgcCccacctggtgctgagctgtg	6	8	12	15	1	0	1	0	1	0	0	0	1	0	1	5	1	6	3	5	1	2	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:8229589C>T	uc003gkv.4	+	11	2269	c.2168C>T	c.(2167-2169)cCc>cTc	p.P723L	SH3TC1_uc003gkw.4_Missense_Mutation_p.P647L|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_5'Flank	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	723							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AAGTGCCTGCCCCACCTGGTG	0.657													T	8229589	C	T	8229589	3	4	46	1	0	0	0	0	1	0	0	0	14355	623	22	2	2210	2	SH3TC1	4	8229589	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		8229589	182924687	19	2876											
KIAA1211	57482	broad.mit.edu	37	chr4	57181748	57181748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggaccagttgaggcccGgtgatgagtccactcccagg	9	6	15	11	1	0	4	0	3	0	1	2	5	2	5	4	4	0	1	4	4	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:57181748G>A	uc003hbk.2	+	7	2471	c.2080G>A	c.(2080-2082)Ggt>Agt	p.G694S	KIAA1211_uc010iha.2_Missense_Mutation_p.G687S|KIAA1211_uc011bzz.1_Missense_Mutation_p.G604S|KIAA1211_uc003hbm.1_Missense_Mutation_p.G580S	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	694										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GTTGAGGCCCGGTGATGAGTC	0.602													A	57181748	G	A	57181748	3	1	46	1	0	0	0	0	1	0	0	0	8273	1116	39	1	2098	1	KIAA1211	4	57181748	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	48952159	57181748	133972528	20	2877											
OTUD4	54726	broad.mit.edu	37	chr4	146077118	146077118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaaggtttaaatccattCacatcagcagcagcagcagc	15	7	8	11	0	2	0	2	0	0	0	3	1	3	0	1	1	5	5	1	1	3	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr4:146077118C>T	uc003ika.4	-	7	603	c.465G>A	c.(463-465)gtG>gtA	p.V155V		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	220	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TAAATCCATTCACATCAGCAG	0.328													T	146077118	C	T	146077118	2	4	46	1	0	0	0	0	0	0	0	1	11390	813	29	2		2	OTUD4	4	146077118	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	88895370	146077118	45077158	21	2878											
EFNA5	1946	broad.mit.edu	37	chr5	106762936	106762936	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagatgtagaaatattctcGgcctggcctgaattcaaatc	13	11	8	9	1	2	3	1	1	1	2	4	3	2	3	2	2	0	1	2	2	5	4	rs142282920		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:106762936G>A	uc003kol.3	-	1	682	c.400C>T	c.(400-402)Cga>Tga	p.R134*	EFNA5_uc010jbr.1_Nonsense_Mutation_p.R134*	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	134					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		AAATATTCTCGGCCTGGCCTG	0.428													A	106762936	G	A	106762936	4	1	46	1	0	0	0	0	0	1	0	0	4993	1124	39	1	302	1	EFNA5	5	106762936	Nonsense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		106762936	74152324	22	2879											
TBC1D9B	23061	broad.mit.edu	37	chr5	179315134	179315134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacaacactggctttcCtgctcccgatactgcctggc	6	10	9	16	1	0	0	0	0	0	0	3	1	3	0	4	3	4	2	4	3	2	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr5:179315134C>T	uc003mlh.3	-	6	1258	c.1223G>A	c.(1222-1224)aGg>aAg	p.R408K	TBC1D9B_uc003mli.3_Missense_Mutation_p.R408K|TBC1D9B_uc003mlj.3_Missense_Mutation_p.R408K	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	408						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACTGGCTTTCCTGCTCCCGAT	0.567													T	179315134	C	T	179315134	3	4	46	1	0	0	0	0	1	0	0	0	15728	681	24	2	2593	2	TBC1D9B	5	179315134	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	72552198	179315134	1600126	23	2880											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604633	62604633	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggtagggacacctctTgctacaggtggcactggaag	9	7	16	9	1	1	0	0	0	1	0	1	3	1	2	1	6	2	3	1	6	3	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr6:62604633T>A	uc003peg.2	-	5	964	c.717A>T	c.(715-717)gcA>gcT	p.A239A		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	239	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GGACACCTCTTGCTACAGGTG	0.607													A	62604633	T	A	62604633	2	1	46	1	0	0	0	0	0	0	0	1	8205	1799	63	5		5	KHDRBS2	6	62604633	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08		62604633	108510434	24	2881											
GPR85	54329	broad.mit.edu	37	chr7	112724285	112724288	+	Frame_Shift_Del	DEL	TGAG	TGAG	-																															tgatcttcctccctaatgaaTgagtaagtgcccacgtctaa																										TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:112724285_112724288delTGAG	uc010ljv.2	-	1	1006_1009	c.489_492delCTCA	c.(487-492)tactcafs	p.Y163fs	GPR85_uc003vgp.1_Frame_Shift_Del_p.Y163fs|GPR85_uc003vgq.2_Frame_Shift_Del_p.Y163fs|GPR85_uc010ljw.1_Frame_Shift_Del_p.Y163fs|GPR85_uc022akd.1_Frame_Shift_Del_p.Y163fs	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	163						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTAATGAATGAGTAAGTGCCCA	0.5													-	112724288	TGAG	-	112724285	7	5	46	1	0	1	0	1	0	0	0	0	6769	1451	51	0	624	0	GPR85	7	112724285	Frame_Shift_Del	DEL	TGAG	TCGA-06-0216-01B-01D-1492-08		112724285	46414378	25	2882											
GIMAP6	474344	broad.mit.edu	37	chr7	150325381	150325381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacctctggcgagacctggGgggacagaatgttgggtgtg	7	8	17	9	1	1	2	0	0	1	2	1	4	1	3	3	5	0	1	3	5	1	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150325381G>A	uc022apv.1	-	2	995	c.515C>T	c.(514-516)cCc>cTc	p.P172L	GIMAP6_uc003whn.3_Missense_Mutation_p.P102L|GIMAP6_uc003whm.3_Intron	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	102							GTP binding	p.G171S(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGACCTGGGGGGACAGAAT	0.622													A	150325381	G	A	150325381	3	1	46	1	0	0	0	0	1	0	0	0	6439	1232	43	2	577	2	GIMAP6	7	150325381	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	37601096	150325381	8813282	26	2883											
ABP1	26	broad.mit.edu	37	chr7	150554420	150554420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctcccacaagcccCgcggggacttccccagcccc	5	7	7	22	2	2	0	0	0	2	0	5	1	4	1	8	2	2	0	8	2	1	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr7:150554420C>T	uc003why.1	+	2	5080	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	ABP1_uc003whz.1_Missense_Mutation_p.R288C|ABP1_uc003wia.1_Missense_Mutation_p.R288C	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	288					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CCACAAGCCCCGCGGGGACTT	0.697													T	150554420	C	T	150554420	3	4	46	1	0	0	0	0	1	0	0	0	98	652	23	1	864	1	ABP1	7	150554420	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	229039	150554420	8584243	27	2884											
CPA6	57094	broad.mit.edu	37	chr8	68419124	68419124	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcgtgatcgtctgcccagCtgaaaacaagagcattcaca	13	8	9	11	2	2	3	1	2	1	1	4	3	2	3	1	0	4	2	1	0	3	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:68419124C>G	uc003xxq.4	-	6	791	c.535_splice	c.e6-1	p.L179_splice	CPA6_uc003xxr.4_Splice_Site_p.L31_splice|CPA6_uc003xxs.2_Splice_Site_p.L179_splice	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	179					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GTCTGCCCAGCTGAAAACAAG	0.408													G	68419124	C	G	68419124	5	3	46	1	0	0	0	0	0	0	1	0	3825	811	28	4	803	4	CPA6	8	68419124	Splice_Site	SNP	C	TCGA-06-0216-01B-01D-1492-08		68419124	77944898	28	2885											
CDH17	1015	broad.mit.edu	37	chr8	95189845	95189845	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtagatcttgtttccctGtccaaggctctgttgtaata	8	16	9	8	0	2	2	0	1	2	1	4	2	4	2	2	1	0	5	2	1	4	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr8:95189845G>A	uc003ygh.2	-	3	380	c.255C>T	c.(253-255)gaC>gaT	p.D85D	CDH17_uc011lgo.1_Silent_p.D85D|CDH17_uc011lgp.1_Silent_p.D85D	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	85	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TTGTTTCCCTGTCCAAGGCTC	0.458													A	95189845	G	A	95189845	2	1	46	1	0	0	0	0	0	0	0	1	3132	1368	48	2		2	CDH17	8	95189845	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	26770721	95189845	51174177	29	2886											
NFIB	4781	broad.mit.edu	37	chr9	14307244	14307244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattggataagacacagcaCgggtgcttcttgccagtcac	10	9	12	10	1	2	1	1	0	1	1	2	3	2	3	1	3	3	2	1	3	1	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:14307244C>T	uc022bdo.1	-	1	841	c.306G>A	c.(304-306)ccG>ccA	p.P102P	NFIB_uc003zlf.3_Silent_p.P102P|NFIB_uc003zle.3_Silent_p.P102P|NFIB_uc022bdp.1_Silent_p.P128P|NFIB_uc011lmo.2_Silent_p.P102P	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	102					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGACACAGCACGGGTGCTTCT	0.527			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								T	14307244	C	T	14307244	2	4	46	1	0	0	0	0	0	0	0	1	10447	523	19	1		1	NFIB	9	14307244	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		14307244	126906187	30	2887											
SHB	6461	broad.mit.edu	37	chr9	37948668	37948668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgcttgctggtctggCtgttccggacaaggtagcta	7	12	13	9	1	2	0	1	0	1	0	3	1	3	1	1	4	3	6	1	4	3	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:37948668C>T	uc004aax.3	-	4	1878	c.1310G>A	c.(1309-1311)aGc>aAc	p.S437N		NM_003028	NP_003019	Q15464	SHB_HUMAN	Homo sapiens Src homology 2 domain containing adaptor protein B (SHB), mRNA.	437	SH2.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		GCTGGTCTGGCTGTTCCGGAC	0.647													T	37948668	C	T	37948668	3	4	46	1	0	0	0	0	1	0	0	0	14362	797	28	2	227	2	SHB	9	37948668	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	23641424	37948668	103264763	31	2888											
ALDOB	229	broad.mit.edu	37	chr9	104187273	104187273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaggttgatagcattgAggttgagagtggcatcctct	10	11	14	6	0	1	3	0	3	1	1	2	4	2	3	1	4	1	5	1	4	2	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:104187273A>T	uc004bbk.2	-	7	933	c.851T>A	c.(850-852)cTc>cAc	p.L284H		NM_000035	NP_000026	P05062	ALDOB_HUMAN	Homo sapiens aldolase B, fructose-bisphosphate (ALDOB), mRNA.	284			L -> P (in HFI).		fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				GATAGCATTGAGGTTGAGAGT	0.517													T	104187273	A	T	104187273	3	4	46	1	0	0	0	0	1	0	0	0	508	304	11	5	251	5	ALDOB	9	104187273	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	66238605	104187273	37026158	32	2889											
PTGS1	5742	broad.mit.edu	37	chr9	125146014	125146014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagcagcttttccagaCgacccgcctcatcctcatag	9	9	8	15	3	2	2	2	1	0	1	4	4	4	2	4	0	2	2	4	0	1	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:125146014C>T	uc004bmg.1	+	7	1124	c.989C>T	c.(988-990)aCg>aTg	p.T330M	PTGS1_uc011lys.1_Missense_Mutation_p.T305M|PTGS1_uc010mwb.1_Missense_Mutation_p.T221M|PTGS1_uc004bmf.1_Missense_Mutation_p.T330M|PTGS1_uc004bmh.1_Missense_Mutation_p.T221M|PTGS1_uc011lyt.1_Missense_Mutation_p.T221M	NM_000962	NP_000953	P23219	PGH1_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase) (PTGS1), transcript variant 1, mRNA.	330					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	CTTTTCCAGACGACCCGCCTC	0.607													T	125146014	C	T	125146014	3	4	46	1	0	0	0	0	1	0	0	0	12841	536	19	1	1019	1	PTGS1	9	125146014	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	20958741	125146014	16067417	33	2890											
COQ4	51117	broad.mit.edu	37	chr9	131088069	131088069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctttcagggagcgtccccGgatttcgacatccaccctcg	6	9	10	16	4	1	0	1	0	0	0	5	3	3	2	5	2	1	0	5	2	0	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr9:131088069G>A	uc004bur.4	+	3	658	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	COQ4_uc011max.1_Missense_Mutation_p.R104Q|COQ4_uc010mxy.3_Missense_Mutation_p.R80Q	NM_016035	NP_057119	Q9Y3A0	COQ4_HUMAN	Homo sapiens coenzyme Q4 homolog (S. cerevisiae) (COQ4), nuclear gene encoding mitochondrial protein, mRNA.	104					ubiquinone biosynthetic process	mitochondrial inner membrane				endometrium(4)|large_intestine(1)|lung(4)	9						GAGCGTCCCCGGATTTCGACA	0.587													A	131088069	G	A	131088069	3	1	46	1	0	0	0	0	1	0	0	0	3778	1116	39	1	325	1	COQ4	9	131088069	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	5942055	131088069	10125362	34	2891											
AGAP6	414189	broad.mit.edu	37	chr10	51768724	51768724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacaccatcgggagcggtaGagccatccccattaaacagg	12	6	11	12	2	0	2	0	1	0	1	2	3	1	3	4	3	3	1	4	3	3	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:51768724G>C	uc001jix.4	+	7	1237	c.839G>C	c.(838-840)aGa>aCa	p.R280T		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	280					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.G279C(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GGGAGCGGTAGAGCCATCCCC	0.507													C	51768724	G	C	51768724	3	2	46	1	0	0	0	0	1	0	0	0	372	942	33	4	869	4	AGAP6	10	51768724	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		51768724	83766023	35	2892											
PTEN	5728	broad.mit.edu	37	chr10	89692835	89692835	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatcaaacccttttgtgaaGatcttgaccaatggctaagt	12	14	7	8	0	2	3	1	2	1	1	2	3	2	3	2	1	1	1	2	1	5	5	rs57374291		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:89692835G>C	uc001kfb.3	+	4	1351	c.319G>C	c.(319-321)Gat>Cat	p.D107H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692835	G	C	89692835	3	2	46	1	0	0	0	0	1	0	0	0	12823	942	33	4	337	4	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	37924111	89692835	45841912	36	2893											
BNIP3	664	broad.mit.edu	37	chr10	133787377	133787377	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttttccatgtctccattAtaaatagaaaccgaggctgg	12	14	7	8	1	1	1	0	0	1	1	3	2	2	1	3	2	1	1	3	2	5	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr10:133787377A>T	uc001lkv.1	-	1	242	c.117T>A	c.(115-117)taT>taA	p.Y39*	BNIP3_uc010qut.1_Nonsense_Mutation_p.Y39*	NM_004052	NP_004043	Q12983	BNIP3_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 3 (BNIP3), nuclear gene encoding mitochondrial protein, mRNA.	39					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGTCTCCATTATAAATAGAAA	0.517													T	133787377	A	T	133787377	4	4	46	1	0	0	0	0	0	1	0	0	1484	456	16	5	487	5	BNIP3	10	133787377	Nonsense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	44094542	133787377	1747370	37	2894											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195500	18195500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcggcctgcccttcGgcattctgggggccctaatt	3	12	11	15	2	2	0	0	0	2	0	4	0	3	0	4	4	2	1	4	4	1	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:18195500G>A	uc001mnv.1	+	0	1117	c.697G>A	c.(697-699)Ggc>Agc	p.G233S		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	233						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G233S(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCTGCCCTTCGGCATTCTGGG	0.527													A	18195500	G	A	18195500	3	1	46	1	0	0	0	0	1	0	0	0	9845	1116	39	1	699	1	MRGPRX4	11	18195500	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		18195500	116811016	38	2895											
LRRC4C	57689	broad.mit.edu	37	chr11	40137192	40137192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcatctagttttatgagCggtgtgaggttagggatttc	8	15	13	5	1	2	2	1	2	1	0	3	3	2	3	0	3	2	3	0	3	3	5			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:40137192C>T	uc021qgf.1	-	0	651	c.651G>A	c.(649-651)ccG>ccA	p.P217P	LRRC4C_uc001mxc.1_Silent_p.P213P|LRRC4C_uc001mxd.1_Silent_p.P213P|LRRC4C_uc001mxa.1_Silent_p.P217P|LRRC4C_uc001mxb.1_Silent_p.P213P	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	217					regulation of axonogenesis	integral to membrane	protein binding	p.P217P(4)		NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GTTTTATGAGCGGTGTGAGGT	0.458													T	40137192	C	T	40137192	2	4	46	1	0	0	0	0	0	0	0	1	9078	755	27	1		1	LRRC4C	11	40137192	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	21941692	40137192	94869324	39	2896											
LRRC55	219527	broad.mit.edu	37	chr11	56950084	56950084	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcagatcggtggcaaTccctgggtgtgtggctgcac	6	9	14	12	1	0	1	0	0	0	1	2	1	1	1	2	4	2	4	2	4	1	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:56950084T>A	uc001njl.2	+	0	864	c.717T>A	c.(715-717)aaT>aaA	p.N239K		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	209	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TCGGTGGCAATCCCTGGGTGT	0.632													A	56950084	T	A	56950084	3	1	46	1	0	0	0	0	1	0	0	0	9081	1432	50	5	719	5	LRRC55	11	56950084	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08	16812892	56950084	78056432	40	2897											
DAGLA	747	broad.mit.edu	37	chr11	61511858	61511858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgacgcccacgggcctcaGtagccaggaatgcctggcgg	7	5	14	15	3	1	1	1	1	0	0	1	2	1	2	5	4	2	1	5	4	2	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:61511858G>A	uc001nsa.3	+	19	3142	c.3026G>A	c.(3025-3027)aGt>aAt	p.S1009N		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	1009					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACGGGCCTCAGTAGCCAGGAA	0.657													A	61511858	G	A	61511858	3	1	46	1	0	0	0	0	1	0	0	0	4260	1029	36	2	3100	2	DAGLA	11	61511858	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	4561774	61511858	73494658	41	2898											
STX5	6811	broad.mit.edu	37	chr11	62593006	62593006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgtttgttgaggctattGatgtcctggtaaaagagtcc	9	16	11	5	0	0	3	0	2	0	1	2	3	2	3	2	2	0	4	2	2	3	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:62593006G>C	uc001nvh.3	-	5	586	c.429C>G	c.(427-429)atC>atG	p.I143M	STX5_uc010rmj.2_Missense_Mutation_p.I143M|STX5_uc010rmi.2_Missense_Mutation_p.I47M	NM_003164	NP_003155	Q13190	STX5_HUMAN	Homo sapiens syntaxin 5 (STX5), transcript variant 1, mRNA.	143					intracellular protein transport|retrograde transport, endosome to Golgi|vesicle targeting	ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|nucleus|SNARE complex	protein N-terminus binding|SNAP receptor activity			breast(2)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	18						TGAGGCTATTGATGTCCTGGT	0.507													C	62593006	G	C	62593006	3	2	46	1	0	0	0	0	1	0	0	0	15444	1280	45	4	662	4	STX5	11	62593006	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1081148	62593006	72413510	42	2899											
NUMA1	4926	broad.mit.edu	37	chr11	71717271	71717271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccgcgtgctgtagaaCgatgagttggcgctgtctgg	7	9	16	9	4	1	3	0	1	1	2	1	4	1	3	1	2	2	5	1	2	2	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:71717271C>T	uc001orl.1	-	21	5674	c.5502G>A	c.(5500-5502)tcG>tcA	p.S1834S	NUMA1_uc001orj.2_Silent_p.S16S|NUMA1_uc009ysw.1_Silent_p.S1401S|NUMA1_uc001ork.1_Silent_p.S698S|NUMA1_uc001orm.1_Silent_p.S1820S	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1834					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGTAGAACGATGAGTTGG	0.552			T	RARA	APL								T	71717271	C	T	71717271	2	4	46	1	0	0	0	0	0	0	0	1	10826	523	19	1		1	NUMA1	11	71717271	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	9124265	71717271	63289245	43	2900											
FOLR4	390243	broad.mit.edu	37	chr11	94040846	94040846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgctccctgttcctgccGttcctttcctgagagccctt	2	15	8	16	1	1	1	0	1	1	1	5	2	5	1	6	0	3	3	6	0	0	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr11:94040846G>A	uc021qou.1	+	3	741	c.741G>A	c.(739-741)ccG>ccA	p.P247P		NM_001199206	NP_001186135	A6ND01	FOLR4_HUMAN	Homo sapiens folate receptor 4 (delta) homolog (mouse) (FOLR4), mRNA.	247						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TGTTCCTGCCGTTCCTTTCCT	0.617													A	94040846	G	A	94040846	2	1	46	1	0	0	0	0	0	0	0	1	6033	1132	40	1		1	FOLR4	11	94040846	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	22323575	94040846	40965670	44	2901											
BCAT1	586	broad.mit.edu	37	chr12	25047326	25047326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgtcagcatatgatcCgtgaacacagttccaaaaac	14	8	6	13	2	1	2	1	2	0	0	4	2	4	2	4	0	3	2	4	0	4	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:25047326C>T	uc001rgd.4	-	2	689	c.162G>A	c.(160-162)acG>acA	p.T54T	BCAT1_uc001rgc.3_Silent_p.T53T|BCAT1_uc010six.2_Silent_p.T66T|BCAT1_uc010siy.2_Silent_p.T54T|BCAT1_uc001rge.4_Silent_p.T30T	NM_005504	NP_005495	P54687	BCAT1_HUMAN	Homo sapiens branched chain amino-acid transaminase 1, cytosolic (BCAT1), transcript variant 1, mRNA.	54					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	GCATATGATCCGTGAACACAG	0.453													T	25047326	C	T	25047326	2	4	46	1	0	0	0	0	0	0	0	1	1359	639	23	1		1	BCAT1	12	25047326	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08		25047326	108804569	45	2902											
CIT	11113	broad.mit.edu	37	chr12	120142198	120142198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtatttgctgaggttttcGttgtagcggagaatgacgac	9	13	13	6	3	0	3	0	2	0	1	1	5	0	3	0	2	2	5	0	2	3	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:120142198G>A	uc001txj.2	-	40	5330	c.5274C>T	c.(5272-5274)aaC>aaT	p.N1758N	CIT_uc001txh.2_Silent_p.N1235N|CIT_uc001txi.2_Silent_p.N1716N	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1716	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TGAGGTTTTCGTTGTAGCGGA	0.512													A	120142198	G	A	120142198	2	1	46	1	0	0	0	0	0	0	0	1	3469	1136	40	1		1	CIT	12	120142198	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	95094872	120142198	13709697	46	2903											
AACS	65985	broad.mit.edu	37	chr12	125621257	125621257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtcccccagtataaCaagtacagggaggagagggt	11	8	14	8	0	0	1	0	0	0	1	1	3	1	2	2	3	2	2	2	3	4	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:125621257C>T	uc001uhc.3	+	16	1934	c.1728C>T	c.(1726-1728)aaC>aaT	p.N576N	AACS_uc001uhd.3_Intron|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_Silent_p.N174N	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	576					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		CCCAGTATAACAAGTACAGGG	0.597													T	125621257	C	T	125621257	2	4	46	1	0	0	0	0	0	0	0	1	9	477	17	2		2	AACS	12	125621257	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	5479059	125621257	8230638	47	2904											
GALNT9	50614	broad.mit.edu	37	chr12	132688129	132688129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggcgcgcagggcgttgCgcttggcatagtagtcaatg	6	8	17	10	6	1	0	1	0	0	0	1	0	1	0	0	4	1	5	0	4	3	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr12:132688129C>T	uc001ukc.4	-	6	1300	c.1184G>A	c.(1183-1185)cGc>cAc	p.R395H	GALNT9_uc009zyr.3_Missense_Mutation_p.R169H|GALNT9_uc001ukb.3_Missense_Mutation_p.R252H|GALNT9_uc001uka.3_Missense_Mutation_p.R29H	NM_001122636	NP_001116108	Q9HCQ5	GALT9_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9) (GALNT9), transcript variant A, mRNA.	395					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CAGGGCGTTGCGCTTGGCATA	0.637													T	132688129	C	T	132688129	3	4	46	1	0	0	0	0	1	0	0	0	6274	768	27	1	647	1	GALNT9	12	132688129	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	7066872	132688129	1163766	48	2905											
HTR2A	3356	broad.mit.edu	37	chr13	47466570	47466570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttcagaaatgccttagTtctggagttgaagcggctgt	9	14	12	6	1	2	2	1	1	1	1	2	4	2	3	1	2	2	3	1	2	3	5			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:47466570T>C	uc010acr.3	-	2	1257	c.568A>G	c.(568-570)Act>Gct	p.T190A	HTR2A_uc001vbr.3_Missense_Mutation_p.T106A	NM_000621	NP_000612	P28223	5HT2A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2A (HTR2A), transcript variant 1, mRNA.	190					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	AATGCCTTAGTTCTGGAGTTG	0.493													C	47466570	T	C	47466570	3	2	46	1	0	0	0	0	1	0	0	0	7499	1725	60	3	855	3	HTR2A	13	47466570	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		47466570	67703308	49	2906											
DIS3	22894	broad.mit.edu	37	chr13	73355005	73355005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggtgctcattagtgaaaGtatagaaatgcttctcttgg	11	15	10	5	0	2	2	1	1	1	1	3	2	2	2	0	2	2	3	0	2	6	6			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr13:73355005G>A	uc001vix.4	-	1	739	c.365C>T	c.(364-366)aCt>aTt	p.T122I	PIBF1_uc010aeo.1_5'Flank|PIBF1_uc001vjb.3_5'Flank|PIBF1_uc001vjc.3_5'Flank|PIBF1_uc010aep.3_5'Flank|DIS3_uc001viy.4_Intron|DIS3_uc001viz.3_Non-coding_Transcript	NM_014953	NP_055768	Q9Y2L1	RRP44_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae) (DIS3), transcript variant 1, mRNA.	122	PINc.				CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATTAGTGAAAGTATAGAAATG	0.388										Multiple Myeloma(4;0.011)			A	73355005	G	A	73355005	3	1	46	1	0	0	0	0	1	0	0	0	4574	1029	36	2	2591	2	DIS3	13	73355005	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	25888435	73355005	41814873	50	2907											
KIAA0430	9665	broad.mit.edu	37	chr16	15692768	15692768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagattggaggataaCggggtctggtctcagctgag	10	9	15	7	1	3	2	2	1	2	1	4	4	3	4	0	5	3	2	0	5	1	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:15692768C>T	uc002ddr.3	-	25	5134	c.4927G>A	c.(4927-4929)Gtt>Att	p.V1643I	KIAA0430_uc002ddq.3_Missense_Mutation_p.V1477I|KIAA0430_uc010uzv.2_Missense_Mutation_p.V1640I|KIAA0430_uc010uzw.2_Missense_Mutation_p.V1643I	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1642						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						TGGAGGATAACGGGGTCTGGT	0.592													T	15692768	C	T	15692768	3	4	46	1	0	0	0	0	1	0	0	0	8235	536	19	1	309	1	KIAA0430	16	15692768	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		15692768	74661985	51	2908											
VPS35	55737	broad.mit.edu	37	chr16	46694426	46694426	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcccctcggattctggTgattcccgccgcaagcgcaa	7	9	11	14	4	1	1	0	1	1	0	3	2	2	2	4	3	1	2	4	3	2	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:46694426T>G	uc002eef.4	-	16	2448	c.2349A>C	c.(2347-2349)tcA>tcC	p.S783S	VPS35_uc002eed.3_3'UTR|VPS35_uc002eee.3_Silent_p.S744S	NM_018206	NP_060676	Q96QK1	VPS35_HUMAN	Homo sapiens vacuolar protein sorting 35 homolog (S. cerevisiae) (VPS35), mRNA.	783					protein transport|retrograde transport, endosome to Golgi	cytosol|endosome|membrane	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|pancreas(1)|prostate(1)|urinary_tract(1)	23		all_cancers(37;7.65e-05)|all_epithelial(9;0.000154)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CGGATTCTGGTGATTCCCGCC	0.438													G	46694426	T	G	46694426	2	3	46	1	0	0	0	0	0	0	0	1	17305	1683	59	5		5	VPS35	16	46694426	Silent	SNP	T	TCGA-06-0216-01B-01D-1492-08	31001658	46694426	43660327	52	2909											
ABCC11	85320	broad.mit.edu	37	chr16	48247385	48247385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgcagacttggaattcGtgagacctttgactgcaata	11	12	9	9	1	1	3	1	2	0	2	2	5	1	4	1	1	2	2	1	1	3	4	rs148839428		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:48247385G>A	uc002eff.1	-	8	1675	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	ABCC11_uc002efg.1_Missense_Mutation_p.T442M|ABCC11_uc002efh.1_Missense_Mutation_p.T442M|ABCC11_uc010vgk.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	442	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTTGGAATTCGTGAGACCTTT	0.552													A	48247385	G	A	48247385	3	1	46	1	0	0	0	0	1	0	0	0	51	1145	40	1	2907	1	ABCC11	16	48247385	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	1552959	48247385	42107368	53	2910											
CNGB1	1258	broad.mit.edu	37	chr16	57993926	57993926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagggagggggtctcccgGgcctgcagcttgggccccat	4	6	18	13	1	1	0	0	0	1	0	2	1	1	1	4	6	2	3	4	6	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr16:57993926G>A	uc002emt.2	-	9	692	c.627C>T	c.(625-627)gcC>gcT	p.A209A	CNGB1_uc010cdh.2_Silent_p.A203A|CNGB1_uc002emu.2_Silent_p.A209A	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	209	Pro-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GGGTCTCCCGGGCCTGCAGCT	0.687													A	57993926	G	A	57993926	2	1	46	1	0	0	0	0	0	0	0	1	3631	1219	43	2		2	CNGB1	16	57993926	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	9746541	57993926	32360827	54	2911											
SMTNL2	342527	broad.mit.edu	37	chr17	4496362	4496362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtctctgacaggttctctgGggagacctcagctgcggctc	6	10	13	12	1	3	2	1	1	2	1	6	3	3	2	1	4	2	3	1	4	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:4496362G>A	uc002fyf.1	+	2	693	c.626G>A	c.(625-627)gGg>gAg	p.G209E	SMTNL2_uc002fye.2_Missense_Mutation_p.G65E	NM_001114974	NP_940903	Q2TAL5	SMTL2_HUMAN	Homo sapiens smoothelin-like 2 (SMTNL2), transcript variant 1, mRNA.	209										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGGTTCTCTGGGGAGACCTCA	0.657													A	4496362	G	A	4496362	3	1	46	1	0	0	0	0	1	0	0	0	14910	1232	43	2	636	2	SMTNL2	17	4496362	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08		4496362	76698848	55	2912											
TMEM220	388335	broad.mit.edu	37	chr17	10628403	10628403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaagccaacagcccacaccGtacaaaagagtatgtgtatt	15	7	7	12	1	0	1	0	0	0	1	0	1	0	1	4	0	4	3	4	0	7	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:10628403G>A	uc002gmx.3	-	3	690	c.212C>T	c.(211-213)aCg>aTg	p.T71M	TMEM220_uc002gmy.3_Missense_Mutation_p.T61M	NM_001004313	NP_001004313	Q6QAJ8	TM220_HUMAN	Homo sapiens transmembrane protein 220 (TMEM220), mRNA.	71						integral to membrane		p.T71M(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						AGCCCACACCGTACAAAAGAG	0.448													A	10628403	G	A	10628403	3	1	46	1	0	0	0	0	1	0	0	0	16244	1145	40	1	282	1	TMEM220	17	10628403	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	6132041	10628403	70566807	56	2913											
HAP1	9001	broad.mit.edu	37	chr17	39884047	39884047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctggatttccttctcCgaagccagctgcttctgcaa	7	13	8	13	1	3	0	0	0	3	0	5	2	4	1	3	1	5	4	3	1	2	3			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr17:39884047C>T	uc002hxm.1	-	7	1254	c.1242G>A	c.(1240-1242)tcG>tcA	p.S414S	JUP_uc010wfs.2_Intron|HAP1_uc002hxn.1_Silent_p.S414S|HAP1_uc002hxo.1_Intron|HAP1_uc002hxp.1_Intron	NM_177977	NP_817084	P54257	HAP1_HUMAN	Homo sapiens huntingtin-associated protein 1 (HAP1), transcript variant 2, mRNA.	414	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTTCCTTCTCCGAAGCCAGCT	0.622													T	39884047	C	T	39884047	2	4	46	1	0	0	0	0	0	0	0	1	7008	639	23	1		1	HAP1	17	39884047	Silent	SNP	C	TCGA-06-0216-01B-01D-1492-08	29255644	39884047	41311163	57	2914											
MUC16	94025	broad.mit.edu	37	chr19	9071728	9071728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaggtggcactgtggactTatcatggtctggggtggaaa	8	11	16	6	0	3	0	2	0	1	0	3	2	3	2	0	7	0	1	0	7	2	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:9071728T>C	uc002mkp.3	-	2	15922	c.15718A>G	c.(15718-15720)Aag>Gag	p.K5240E		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5242	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D5239N(1)		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						ACTGTGGACTTATCATGGTCT	0.478													C	9071728	T	C	9071728	3	2	46	1	0	0	0	0	1	0	0	0	10049	1763	61	3	28133	3	MUC16	19	9071728	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		9071728	50057255	58	2915											
CD22	933	broad.mit.edu	37	chr19	35832284	35832285	+	Frame_Shift_Ins	INS	-	-	T																															ggtccggaaaatcaagccccINStttccgagattcactctgga																										TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:35832284_35832285insT	uc010edt.3	+	7	1630_1631	c.1546_1547insT	c.(1546-1548)cttfs	p.L516fs	CD22_uc010edu.3_Frame_Shift_Ins_p.L428fs|CD22_uc010edv.3_Frame_Shift_Ins_p.L516fs|CD22_uc002nzb.4_Frame_Shift_Ins_p.L339fs|CD22_uc010xst.2_Frame_Shift_Ins_p.L344fs|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	516	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AATCAAGCCCCTTTCCGAGATT	0.574													T	35832285	-	T	35832284	7	5	46	1	0	1	1	0	0	0	0	0	3015	681	24	0	1572	0	CD22	19	35832284	Frame_Shift_Ins	INS	-	TCGA-06-0216-01B-01D-1492-08	26760556	35832284	23296699	59	2916											
GLTSCR2	29997	broad.mit.edu	37	chr19	48259848	48259848	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggaatatgatcgagcctCgagagagagccaagtaaggg	14	5	16	6	2	0	3	0	1	0	2	2	8	0	5	2	3	2	1	2	3	4	2	rs141718194		TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:48259848C>T	uc002phm.2	+	10	1384	c.1360C>T	c.(1360-1362)Cga>Tga	p.R454*	GLTSCR2_uc010elk.1_Non-coding_Transcript	NM_015710	NP_056525	Q9NZM5	GSCR2_HUMAN	Homo sapiens glioma tumor suppressor candidate region gene 2 (GLTSCR2), mRNA.	454				EGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAFR EIQL -> RGQHSFETGSRAFRGGI (in Ref. 3; AAG30413).|PEGNILRDRFKSFQRRNMIEPRERAKFKRKYKVKLVEKRAF REIQ -> VLTVSCRGAPCPVMTPSLLPVPPRGYGRHHGCP WAGPVGPMPRG (in Ref. 5).		nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GATCGAGCCTCGAGAGAGAGC	0.632													T	48259848	C	T	48259848	4	4	46	1	0	0	0	0	0	1	0	0	6531	876	31	1	1402	1	GLTSCR2	19	48259848	Nonsense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	12427564	48259848	10869135	60	2917											
NLRP12	91662	broad.mit.edu	37	chr19	54304629	54304629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctcgtcacaggcagcagCagtgaggcggcagatcttca	10	6	13	12	2	3	2	2	1	1	1	4	2	3	2	0	3	3	5	0	3	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr19:54304629C>T	uc002qcj.4	-	6	2831	c.2611G>A	c.(2611-2613)Gct>Act	p.A871T	NLRP12_uc010eqw.3_Missense_Mutation_p.A153T|NLRP12_uc002qch.4_Missense_Mutation_p.A870T|NLRP12_uc002qci.4_Missense_Mutation_p.A870T|NLRP12_uc002qck.4_Intron|NLRP12_uc010eqx.3_Intron	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	870					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CAGGCAGCAGCAGTGAGGCGG	0.493													T	54304629	C	T	54304629	3	4	46	1	0	0	0	0	1	0	0	0	10550	710	25	2	593	2	NLRP12	19	54304629	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	6044781	54304629	4824354	61	2918											
WFDC13	164237	broad.mit.edu	37	chr20	44334525	44334525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacaagggctcagaagTcatcatgcctgccaactgag	14	6	9	12	0	3	2	3	1	0	1	3	2	3	2	2	1	4	1	2	1	4	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chr20:44334525T>C	uc002xpd.3	+	2	371	c.263T>C	c.(262-264)gTc>gCc	p.V88A	WFDC10B_uc002xpb.3_5'Flank|WFDC10B_uc002xpc.3_5'Flank	NM_172005	NP_742002	Q8IUB5	WFD13_HUMAN	Homo sapiens WAP four-disulfide core domain 13 (WFDC13), mRNA.	88						extracellular region	peptidase inhibitor activity			skin(1)|upper_aerodigestive_tract(1)	2		Myeloproliferative disorder(115;0.0122)				GGCTCAGAAGTCATCATGCCT	0.353													C	44334525	T	C	44334525	3	2	46	1	0	0	0	0	1	0	0	0	17453	1667	58	3	273	3	WFDC13	20	44334525	Missense_Mutation	SNP	T	TCGA-06-0216-01B-01D-1492-08		44334525	18690995	62	2919											
KLHL15	80311	broad.mit.edu	37	chrX	24006559	24006559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatgaggtgattccacCggtgataaacaatttgttat	13	12	11	5	1	0	4	0	3	0	1	1	5	1	5	2	3	1	1	2	3	5	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:24006559C>T	uc004dba.4	-	3	1550	c.1294G>A	c.(1294-1296)Ggt>Agt	p.G432S		NM_030624	NP_085127	Q96M94	KLH15_HUMAN	Homo sapiens kelch-like 15 (Drosophila) (KLHL15), mRNA.	432										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GTGATTCCACCGGTGATAAAC	0.443													T	24006559	C	T	24006559	3	4	46	1	0	0	0	0	1	0	0	0	8429	652	23	1	524	1	KLHL15	23	24006559	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08		24006559	131264001	63	2920											
FGD1	2245	broad.mit.edu	37	chrX	54496521	54496521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcctcctcctcgtcGtcctcctcctccaggtcact	2	14	4	21	2	2	0	1	0	1	0	12	0	10	0	8	1	0	0	8	1	0	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:54496521G>A	uc004dtg.3	-	3	1763	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	FGD1_uc011moi.1_Silent_p.D101D	NM_004463	NP_004454	P98174	FGD1_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 1 (FGD1), mRNA.	343					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						cctcctcgtcgtcctcctcct	0.627													A	54496521	G	A	54496521	2	1	46	1	0	0	0	0	0	0	0	1	5881	1136	40	1		1	FGD1	23	54496521	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	30489962	54496521	100774039	64	2921											
ZMYM3	9203	broad.mit.edu	37	chrX	70467290	70467290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctggttgcagaaatgaCggatctgcccacgccagtgg	9	8	13	11	2	1	2	0	1	1	1	1	3	1	3	2	3	3	3	2	3	1	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:70467290C>T	uc004dzh.2	-	12	2398	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.R740H|ZMYM3_uc004dzj.2_Missense_Mutation_p.R740H	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	740					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCAGAAATGACGGATCTGCCC	0.582													T	70467290	C	T	70467290	3	4	46	1	0	0	0	0	1	0	0	0	17802	536	19	1	1945	1	ZMYM3	23	70467290	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	15970769	70467290	84803270	65	2922											
CAPN6	827	broad.mit.edu	37	chrX	110494147	110494147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtaattgactcaaacctGgggattctgcaggaaggtat	14	10	11	6	0	2	1	1	1	1	0	2	3	2	3	1	4	2	3	1	4	5	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:110494147G>T	uc004epc.2	-	7	1347	c.1156C>A	c.(1156-1158)Cag>Aag	p.Q386K	CAPN6_uc011msu.2_Missense_Mutation_p.Q131K	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	386	Domain III.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.Q386K(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACTCAAACCTGGGGATTCTGC	0.453													T	110494147	G	T	110494147	3	4	46	1	0	0	0	0	1	0	0	0	2656	1357	47	4	793	4	CAPN6	23	110494147	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	40026857	110494147	44776413	66	2923											
DDX26B	203522	broad.mit.edu	37	chrX	134714081	134714081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaagttcgaaagtttGgtcgaagtaagtagtgaaag	15	10	14	2	2	0	2	0	2	0	0	2	5	0	3	0	2	0	4	0	2	7	4			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:134714081G>C	uc004eyw.4	+	14	2740	c.2377G>C	c.(2377-2379)Ggt>Cgt	p.G793R	DDX26B_uc004eyx.4_Missense_Mutation_p.G394R	NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	793										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCGAAAGTTTGGTCGAAGTAA	0.373													C	134714081	G	C	134714081	3	2	46	1	0	0	0	0	1	0	0	0	4387	1348	47	4	2435	4	DDX26B	23	134714081	Missense_Mutation	SNP	G	TCGA-06-0216-01B-01D-1492-08	24219934	134714081	20556479	67	2924											
GPR101	83550	broad.mit.edu	37	chrX	136113330	136113330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcagcctggccccagccGtagagtggaggagtgctctg	8	6	16	11	1	1	1	0	0	1	1	1	3	1	3	4	4	3	3	4	4	2	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:136113330G>A	uc011mwh.2	-	0	504	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_054021	NP_473362	Q96P66	GP101_HUMAN	Homo sapiens G protein-coupled receptor 101 (GPR101), mRNA.	168						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGCCCCAGCCGTAGAGTGGAG	0.607													A	136113330	G	A	136113330	2	1	46	1	0	0	0	0	0	0	0	1	6676	1140	40	1		1	GPR101	23	136113330	Silent	SNP	G	TCGA-06-0216-01B-01D-1492-08	1399249	136113330	19157230	68	2925											
SOX3	6658	broad.mit.edu	37	chrX	139587063	139587063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcgctcccggggctggagCggccacggtgaaaaggccct	7	4	17	13	4	0	1	0	1	0	0	1	2	1	2	3	7	1	2	3	7	2	0			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:139587063C>T	uc004fbd.1	-	0	163	c.163G>A	c.(163-165)Gct>Act	p.A55T		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	55					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGGCTGGAGCGGCCACGGTG	0.667													T	139587063	C	T	139587063	3	4	46	1	0	0	0	0	1	0	0	0	15045	768	27	1	1181	1	SOX3	23	139587063	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	3473733	139587063	15683497	69	2926											
SLITRK2	84631	broad.mit.edu	37	chrX	144906039	144906039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtcagatgtgccaaaaccCcatctacatgcagaaggaag	14	6	11	10	0	2	2	1	0	1	2	2	3	2	3	3	2	4	1	3	2	5	1			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:144906039C>T	uc022cfn.1	+	0	2096	c.2096C>T	c.(2095-2097)cCc>cTc	p.P699L	SLITRK2_uc004fcd.3_Missense_Mutation_p.P699L|SLITRK2_uc010nsp.3_Missense_Mutation_p.P699L|SLITRK2_uc010nso.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwq.2_Missense_Mutation_p.P699L|SLITRK2_uc011mwr.2_Missense_Mutation_p.P699L|SLITRK2_uc011mws.2_Missense_Mutation_p.P699L|SLITRK2_uc004fcg.3_Missense_Mutation_p.P699L|SLITRK2_uc011mwt.2_Missense_Mutation_p.P699L|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	699						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAAAACCCCATCTACATG	0.478													T	144906039	C	T	144906039	3	4	46	1	0	0	0	0	1	0	0	0	14837	623	22	2	2098	2	SLITRK2	23	144906039	Missense_Mutation	SNP	C	TCGA-06-0216-01B-01D-1492-08	5318976	144906039	10364521	70	2927											
GPR50	9248	broad.mit.edu	37	chrX	150348278	150348278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtctctctgtggccgatAtgctggtggccatctaccca	6	12	10	13	1	4	0	1	0	3	0	5	1	4	0	3	3	2	1	3	3	2	2			TCGA-06-0216-01B-01D-1492-08	TCGA-06-0216-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eac73a02-b2e0-4601-9bd6-aceb07594fe8	1e3c9b2d-1a94-4b4b-a3e9-967c77c6498d	g.chrX:150348278A>G	uc010ntg.2	+	1	361	c.223A>G	c.(223-225)Atg>Gtg	p.M75V	GPR50_uc011myc.2_Missense_Mutation_p.M75V	NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	75					cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					TGTGGCCGATATGCTGGTGGC	0.507													G	150348278	A	G	150348278	3	3	46	1	0	0	0	0	1	0	0	0	6751	449	16	3	229	3	GPR50	23	150348278	Missense_Mutation	SNP	A	TCGA-06-0216-01B-01D-1492-08	5442239	150348278	4922282	71	2928											
OR2M4	26245	broad.mit.edu	37	chr1	248402311	248402311	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcccacccacaccttcctTttttctctggtcctgggcat	5	14	6	16	0	1	0	0	0	1	0	5	0	4	0	5	2	0	1	5	2	0	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:248402311T>C	uc010pzh.2	+	0	81	c.81T>C	c.(79-81)ctT>ctC	p.L27L		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACACCTTCCTTTTTTCTCTGG	0.463													C	248402311	T	C	248402311	2	2	47	1	0	0	0	0	0	0	0	1	11088	1828	64	3		3	OR2M4	1	248402311	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		248402311	848310	1	2929											
ZNF672	79894	broad.mit.edu	37	chr1	249142450	249142450	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcgaccgctcggaccTcaccaagcaccggcgcacgc	8	4	10	19	6	2	0	2	0	0	0	3	2	2	1	4	2	2	3	4	2	1	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249142450T>G	uc001iex.3	+	3	1672	c.977T>G	c.(976-978)cTc>cGc	p.L326R	ZNF672_uc021pme.1_Missense_Mutation_p.L326R	NM_024836	NP_079112	Q499Z4	ZN672_HUMAN	Homo sapiens zinc finger protein 672 (ZNF672), mRNA.	326					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)	5	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGCTCGGACCTCACCAAGCAC	0.697													G	249142450	T	G	249142450	3	3	47	1	0	0	0	0	1	0	0	0	18180	1551	54	5	979	5	ZNF672	1	249142450	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	740139	249142450	108171	2	2930											
ZNF692	55657	broad.mit.edu	37	chr1	249151478	249151478	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaacaccaacttctccGagtagtatgtggaagggagg	11	8	13	9	2	1	0	0	0	1	0	3	4	1	3	2	4	2	2	2	4	5	3	rs141085159	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr1:249151478G>T	uc001ifc.2	-	3	641	c.430C>A	c.(430-432)Cgg>Agg	p.R144R	ZNF692_uc001iez.2_5'Flank|ZNF692_uc001ifb.2_5'UTR|ZNF692_uc010pzr.2_Silent_p.R149R|ZNF692_uc001iff.2_Silent_p.R144R	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CAACTTCTCCGAGTAGTATGT	0.547													T	249151478	G	T	249151478	2	4	47	1	0	0	0	0	0	0	0	1	18198	1057	37	4		4	ZNF692	1	249151478	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	9028	249151478	99143	3	2931											
HS1BP3	64342	broad.mit.edu	37	chr2	20840922	20840922	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaaaactcctcaatctCgctgtactttttggagacct	9	14	7	11	1	2	1	1	0	1	1	4	2	3	1	2	2	2	3	2	2	4	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:20840922C>A	uc002rdw.1	-	2	258	c.217G>T	c.(217-219)Gag>Tag	p.E73*	HS1BP3_uc002rdx.3_Nonsense_Mutation_p.E73*|HS1BP3_uc002rdy.3_Nonsense_Mutation_p.E73*	NM_022460	NP_071905	Q53T59	H1BP3_HUMAN	Homo sapiens HCLS1 binding protein 3 (HS1BP3), mRNA.	73	PX.				cell communication		phosphatidylinositol binding			endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	15	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTCAATCTCGCTGTACTTT	0.547													A	20840922	C	A	20840922	4	1	47	1	0	0	0	0	0	1	0	0	7416	893	31	4	981	4	HS1BP3	2	20840922	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		20840922	222358451	4	2932											
SLC4A10	57282	broad.mit.edu	37	chr2	162804208	162804208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcagccaccctgaagcagTtcaagactagcagatatttt	12	11	8	10	0	2	3	2	1	0	2	2	3	2	3	2	0	3	3	2	0	4	5			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr2:162804208T>C	uc002ubx.4	+	16	2420	c.2236T>C	c.(2236-2238)Ttc>Ctc	p.F746L	SLC4A10_uc010zcs.2_Missense_Mutation_p.F727L|SLC4A10_uc002uby.4_Missense_Mutation_p.F716L	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	746					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CCTGAAGCAGTTCAAGACTAG	0.383													C	162804208	T	C	162804208	3	2	47	1	0	0	0	0	1	0	0	0	14745	1725	60	3	2387	3	SLC4A10	2	162804208	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	141963286	162804208	80395165	5	2933											
FGD5	152273	broad.mit.edu	37	chr3	14942566	14942566	+	Frame_Shift_Del	DEL	G	G	-																															ccaacgacagcatggagcaaGgggtgagtgcggcctggcgg																										TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:14942566delG	uc003bzc.3	+	8	3372	c.3262delG	c.(3262-3264)gggfs	p.G1088fs	FGD5_uc011avk.2_Frame_Shift_Del_p.G1088fs|FGD5_uc003bzd.3_Frame_Shift_Del_p.G166fs	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	1088					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CATGGAGCAAGGGGTGAGTGC	0.642													-	14942566	G	-	14942566	7	5	47	1	0	1	0	1	0	0	0	0	5885	1000	35	0	3296	0	FGD5	3	14942566	Frame_Shift_Del	DEL	G	TCGA-06-0219-01A-01D-1491-08		14942566	183079864	6	2934											
RPL15	6138	broad.mit.edu	37	chr3	23959481	23959481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggctccccgccccacccGgcctgataaagcgcgccgac	7	3	11	20	5	0	1	0	1	0	0	1	2	1	1	7	2	1	1	7	2	2	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:23959481G>A	uc003ccr.3	+	1	524	c.131G>A	c.(130-132)cGg>cAg	p.R44Q	NKIRAS1_uc003cck.3_Intron|NKIRAS1_uc003ccj.3_5'Flank|RPL15_uc011awi.2_Missense_Mutation_p.R44Q|RPL15_uc011awj.2_Missense_Mutation_p.R44Q|RPL15_uc003ccn.3_Missense_Mutation_p.R44Q|RPL15_uc003cco.3_Missense_Mutation_p.R44Q|RPL15_uc003ccp.3_Missense_Mutation_p.R44Q|RPL15_uc003ccq.3_Missense_Mutation_p.R44Q|RPL15_uc021wub.1_Missense_Mutation_p.R44Q	NM_001253379	NP_001240308	P61313	RL15_HUMAN	Homo sapiens ribosomal protein L15 (RPL15), transcript variant 2, mRNA.	44					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						CGCCCCACCCGGCCTGATAAA	0.557													A	23959481	G	A	23959481	3	1	47	1	0	0	0	0	1	0	0	0	13653	1116	39	1	133	1	RPL15	3	23959481	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	9016915	23959481	174062949	7	2935											
TRAT1	50852	broad.mit.edu	37	chr3	108568057	108568057	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaatgaaagcccgaccaGagaaatctgtaaataagatg	20	6	8	7	1	1	3	0	1	1	2	1	5	1	3	2	0	2	1	2	0	7	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:108568057G>T	uc003dxi.1	+	4	403	c.259G>T	c.(259-261)Gag>Tag	p.E87*	TRAT1_uc010hpx.1_Nonsense_Mutation_p.E50*	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	87					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.P86R(1)|p.E87D(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGCCCGACCAGAGAAATCTGT	0.353													T	108568057	G	T	108568057	4	4	47	1	0	0	0	0	0	1	0	0	16567	943	33	4	277	4	TRAT1	3	108568057	Nonsense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	84608576	108568057	89454373	8	2936											
UROC1	131669	broad.mit.edu	37	chr3	126236443	126236443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccactgcttacctgtttCtccacagggctgaggctggg	5	10	13	13	0	1	1	0	1	1	0	2	1	1	1	3	4	2	4	3	4	1	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:126236443C>T	uc010hsi.2	-	0	174	c.120G>A	c.(118-120)gaG>gaA	p.E40E	UROC1_uc003eiz.2_Silent_p.E40E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	40					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		TTACCTGTTTCTCCACAGGGC	0.677													T	126236443	C	T	126236443	2	4	47	1	0	0	0	0	0	0	0	1	17130	912	32	2		2	UROC1	3	126236443	Silent	SNP	C	TCGA-06-0219-01A-01D-1491-08	17668386	126236443	71785987	9	2937											
CLCN2	1181	broad.mit.edu	37	chr3	184071135	184071135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatgtgctgccgccggCgggctgggctcagctgggcc	2	7	17	15	3	1	0	1	0	0	0	1	0	1	0	4	4	4	5	4	4	0	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:184071135C>T	uc003foi.3	-	16	2055	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	CLCN2_uc003foh.3_Missense_Mutation_p.R168H|CLCN2_uc010hya.2_Missense_Mutation_p.R627H|CLCN2_uc011brl.2_Missense_Mutation_p.R644H|CLCN2_uc011brm.2_Missense_Mutation_p.R600H	NM_004366	NP_004357	P51788	CLCN2_HUMAN	Homo sapiens chloride channel 2 (CLCN2), transcript variant 1, mRNA.	644			R -> C (no effect).			chloride channel complex	voltage-gated chloride channel activity	p.A643>?(4)		breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	CTGCCGCCGGCGGGCTGGGCT	0.627													T	184071135	C	T	184071135	3	4	47	1	0	0	0	0	1	0	0	0	3494	768	27	1	797	1	CLCN2	3	184071135	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	57834692	184071135	13951295	10	2938											
LPP	4026	broad.mit.edu	37	chr3	188327129	188327129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacactcaaaccccagcctCagccagtcccagcctcctac	11	5	5	20	0	2	0	2	0	0	0	4	1	4	0	7	0	6	0	7	0	3	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr3:188327129C>T	uc003frs.2	+	5	856	c.610C>T	c.(610-612)Cag>Tag	p.Q204*	LPP_uc011bsg.2_Nonsense_Mutation_p.Q204*|LPP_uc011bsi.2_Nonsense_Mutation_p.Q204*|LPP_uc003frt.3_Nonsense_Mutation_p.Q204*|LPP_uc011bsj.2_Nonsense_Mutation_p.Q41*	NM_005578	NP_005569	Q93052	LPP_HUMAN	Homo sapiens LIM domain containing preferred translocation partner in lipoma (LPP), transcript variant 1, mRNA.	204	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCCCAGCCTCAGCCAGTCCC	0.567			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								T	188327129	C	T	188327129	4	4	47	1	0	0	0	0	0	1	0	0	8993	827	29	2	624	2	LPP	3	188327129	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	4255994	188327129	9695301	11	2939											
ZNF518B	85460	broad.mit.edu	37	chr4	10445311	10445311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacttatagaaagacttctgGaaagcagtctcccttgctta	12	13	7	9	0	2	2	0	0	2	2	3	3	2	3	1	1	3	2	1	1	6	6			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr4:10445311G>T	uc003gmn.3	-	2	3129	c.2642C>A	c.(2641-2643)tCc>tAc	p.S881Y	ZNF518B_uc021xme.1_Missense_Mutation_p.S881Y	NM_053042	NP_444270	Q9C0D4	Z518B_HUMAN	Homo sapiens zinc finger protein 518B (ZNF518B), mRNA.	881					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						AAGACTTCTGGAAAGCAGTCT	0.403													T	10445311	G	T	10445311	3	4	47	1	0	0	0	0	1	0	0	0	18064	1174	41	4	586	4	ZNF518B	4	10445311	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		10445311	180708965	12	2940											
PRDM9	56979	broad.mit.edu	37	chr5	23527628	23527628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcagggagtgtgggCggggctttagcaataagtca	9	10	16	6	1	2	0	1	0	1	0	2	1	2	1	0	4	2	3	0	4	3	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:23527628C>T	uc003jgo.3	+	10	2613	c.2431C>T	c.(2431-2433)Cgg>Tgg	p.R811W		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	811					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.572										HNSCC(3;0.000094)			T	23527628	C	T	23527628	3	4	47	1	0	0	0	0	1	0	0	0	12549	759	27	1	2469	1	PRDM9	5	23527628	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		23527628	157387632	13	2941											
TRIM23	373	broad.mit.edu	37	chr5	64887666	64887666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccttcatacagtcccAtaccacttcgagcatcacag	12	8	4	17	1	2	0	2	0	0	0	4	1	3	0	4	0	4	1	4	0	3	4	rs150920611		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:64887666A>G	uc003jty.3	-	10	1741	c.1655T>C	c.(1654-1656)aTg>aCg	p.M552T	TRIM23_uc003jtw.3_Intron|TRIM23_uc003jtx.3_Intron	NM_001656	NP_001647	P36406	TRI23_HUMAN	Homo sapiens tripartite motif containing 23 (TRIM23), transcript variant alpha, mRNA.	552	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		ATACAGTCCCATACCACTTCG	0.458													G	64887666	A	G	64887666	3	3	47	1	0	0	0	0	1	0	0	0	16598	217	8	3	140	3	TRIM23	5	64887666	Missense_Mutation	SNP	A	TCGA-06-0219-01A-01D-1491-08	41360038	64887666	116027594	14	2942											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834438	101834438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgaggacttcggggtTcccttggccctcctgtcctt	2	13	12	14	2	0	0	0	0	0	0	5	2	3	1	4	5	0	2	4	5	0	5			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:101834438T>C	uc003knn.3	-	0	283	c.111A>G	c.(109-111)ggA>ggG	p.G37G	SLCO6A1_uc003kno.3_Silent_p.G37G|SLCO6A1_uc003knp.3_Silent_p.G37G|SLCO6A1_uc003knq.3_Silent_p.G37G	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	37						integral to membrane|plasma membrane	transporter activity	p.G37R(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		ACTTCGGGGTTCCCTTGGCCC	0.602													C	101834438	T	C	101834438	2	2	47	1	0	0	0	0	0	0	0	1	14826	1770	62	3		3	SLCO6A1	5	101834438	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08	36946772	101834438	79080822	15	2943											
PCDHGC5	56113	broad.mit.edu	37	chr5	140719925	140719925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctactccacctacattcccGaaaacaaccccagaggagcc	13	5	5	18	1	0	1	0	0	0	1	2	3	2	2	7	1	5	0	7	1	5	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr5:140719925G>A	uc003ljk.2	+	0	1572	c.1387G>A	c.(1387-1389)Gaa>Aaa	p.E463K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.E463K	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	465	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACATTCCCGAAAACAACCC	0.562													A	140719925	G	A	140719925	3	1	47	1	0	0	0	0	1	0	0	0	11647	1059	37	1		1	PCDHGC5	5	140719925	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	38885487	140719925	40195335	16	2944											
COL11A2	1302	broad.mit.edu	37	chr6	33152017	33152017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtgtaatcgtagggccCttcaggggggtctgtgccac	7	10	15	9	1	2	0	1	0	1	0	3	0	2	0	2	5	1	2	2	5	3	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr6:33152017C>A	uc003ocx.1	-	7	1252	c.1024G>T	c.(1024-1026)Ggg>Tgg	p.G342W	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	342	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCGTAGGGCCCTTCAGGGGGG	0.612													A	33152017	C	A	33152017	3	1	47	1	0	0	0	0	1	0	0	0	3699	681	24	4	4422	4	COL11A2	6	33152017	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		33152017	137963050	17	2945											
RSBN1L	222194	broad.mit.edu	37	chr7	77408002	77408002	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgtatgcagtttagcatgGcatattcggctcaaattata	11	14	9	7	1	1	0	1	0	0	0	2	0	1	0	0	2	2	7	0	2	6	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:77408002G>A	uc010ldt.1	+	7	2102	c.2058G>A	c.(2056-2058)tgG>tgA	p.W686*		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	686						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTTTAGCATGGCATATTCGGC	0.388													A	77408002	G	A	77408002	4	1	47	1	0	0	0	0	0	1	0	0	13788	1212	42	2	2088	2	RSBN1L	7	77408002	Nonsense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		77408002	81730661	18	2946											
TSGA13	114960	broad.mit.edu	37	chr7	130365809	130365809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatggactgtgtaatgcCgaaggttctctagaacaaat	12	12	11	6	1	1	1	0	0	1	1	2	4	1	3	1	3	2	2	1	3	5	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:130365809C>T	uc003vqi.3	-	3	606	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	TSGA13_uc003vqj.3_Missense_Mutation_p.R50Q	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	50										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGTGTAATGCCGAAGGTTCTC	0.433													T	130365809	C	T	130365809	3	4	47	1	0	0	0	0	1	0	0	0	16720	652	23	1	698	1	TSGA13	7	130365809	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	52957807	130365809	28772854	19	2947											
MLL3	58508	broad.mit.edu	37	chr7	151962220	151962220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccatgatagtgctgacCacaagtagtacaaaagaact	16	9	7	9	0	0	3	0	2	0	1	1	3	1	3	2	0	3	3	2	0	7	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr7:151962220C>A	uc003wla.3	-	7	1306	c.1087G>T	c.(1087-1089)Ggt>Tgt	p.G363C		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	363					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.C362*(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TAGTGCTGACCACAAGTAGTA	0.448			N		medulloblastoma								A	151962220	C	A	151962220	3	1	47	1	0	0	0	0	1	0	0	0	9697	594	21	4	13856	4	MLL3	7	151962220	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	21596411	151962220	7176443	20	2948											
ADAM7	8756	broad.mit.edu	37	chr8	24339684	24339684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttaaacatccatgtgacGttggttggcattgaaatatg	12	13	9	7	1	0	2	0	2	0	0	1	2	1	2	2	2	1	3	2	2	4	5	rs147649440		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:24339684G>A	uc003xeb.3	+	8	848	c.735G>A	c.(733-735)acG>acA	p.T245T	ADAM7_uc003xec.3_Silent_p.T17T	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	245	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TCCATGTGACGTTGGTTGGCA	0.303													A	24339684	G	A	24339684	2	1	47	1	0	0	0	0	0	0	0	1	251	1132	40	1		1	ADAM7	8	24339684	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08		24339684	122024338	21	2949											
OPRK1	4986	broad.mit.edu	37	chr8	54163341	54163341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgtccccgcgctcacCggatgatcacgaacatgacc	8	7	10	16	5	2	2	2	2	0	0	3	4	3	3	4	1	2	2	4	1	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:54163341C>T	uc003xrh.1	-	1	632	c.257_splice	c.e1+1	p.R86_splice	OPRK1_uc022aup.1_Splice_Site|OPRK1_uc003xri.1_Splice_Site_p.R86_splice|OPRK1_uc010lyc.1_Splice_Site	NM_000912	NP_000903	P41145	OPRK_HUMAN	Homo sapiens opioid receptor, kappa 1 (OPRK1), mRNA.	86					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	CCGCGCTCACCGGATGATCAC	0.682													T	54163341	C	T	54163341	3	4	47	1	0	0	0	0	1	0	0	0	10961	666	23	1	897	1	OPRK1	8	54163341	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	29823657	54163341	92200681	22	2950											
KCNS2	3788	broad.mit.edu	37	chr8	99441436	99441436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccatcaccttgatctTcaataagttctcccactttt	8	15	3	15	0	4	1	2	1	2	0	5	1	4	1	4	0	1	1	4	0	2	6			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:99441436T>C	uc003yin.3	+	1	1579	c.1229T>C	c.(1228-1230)tTc>tCc	p.F410S	KCNS2_uc022azb.1_Missense_Mutation_p.F410S	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	410						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			ACCTTGATCTTCAATAAGTTC	0.552													C	99441436	T	C	99441436	3	2	47	1	0	0	0	0	1	0	0	0	8147	1783	62	3	1231	3	KCNS2	8	99441436	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08	45278095	99441436	46922586	23	2951											
CSMD3	114788	broad.mit.edu	37	chr8	113256758	113256758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggaaggtccatccctaCgacatttgcatgagcaggag	12	8	12	9	1	0	2	0	1	0	1	2	5	2	4	2	3	3	2	2	3	2	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:113256758C>T	uc003ynu.3	-	64	10426	c.10267G>A	c.(10267-10269)Gta>Ata	p.V3423I	CSMD3_uc003yns.3_Missense_Mutation_p.V2625I|CSMD3_uc003ynt.3_Missense_Mutation_p.V3383I|CSMD3_uc011lhx.2_Missense_Mutation_p.V3254I	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3423	Sushi 28.					integral to membrane|plasma membrane		p.V3423I(2)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCATCCCTACGACATTTGCA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113256758	C	T	113256758	3	4	47	1	0	0	0	0	1	0	0	0	3979	536	19	1	884	1	CSMD3	8	113256758	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	13815322	113256758	33107264	24	2952											
FER1L6	654463	broad.mit.edu	37	chr8	125047530	125047530	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagcctcctgggaaaCgaccggctggttggtctgtg	5	11	13	12	2	2	0	0	0	2	0	4	2	3	1	4	4	2	2	4	4	1	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:125047530C>T	uc003yqw.3	+	18	2505	c.2299C>T	c.(2299-2301)Cga>Tga	p.R767*	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	767						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCCTGGGAAACGACCGGCTGG	0.493													T	125047530	C	T	125047530	4	4	47	1	0	0	0	0	0	1	0	0	5864	528	19	1	2369	1	FER1L6	8	125047530	Nonsense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	11790772	125047530	21316492	25	2953											
EPPK1	83481	broad.mit.edu	37	chr8	144940504	144940504	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcggtgtagccggtgacGgcgcgctcggccgacagcag	5	5	19	12	7	0	1	0	1	0	0	2	2	0	1	2	5	2	3	2	5	1	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr8:144940504G>A	uc003zaa.1	-	0	6931	c.6918C>T	c.(6916-6918)gcC>gcT	p.A2306A		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2306						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGCCGGTGACGGCGCGCTCGG	0.701													A	144940504	G	A	144940504	2	1	47	1	0	0	0	0	0	0	0	1	5231	1103	39	1		1	EPPK1	8	144940504	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	19892974	144940504	1423518	26	2954											
FRMD3	257019	broad.mit.edu	37	chr9	85924522	85924522	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgaagtatggaaTgccaacatggcttttttcta	9	15	11	6	0	1	1	0	1	1	0	1	2	1	2	1	3	2	4	1	3	5	6			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:85924522T>C	uc004ams.2	-	9	1057	c.855A>G	c.(853-855)gcA>gcG	p.A285A	FRMD3_uc004amr.1_Silent_p.A285A|FRMD3_uc022bja.1_Silent_p.A241A|FRMD3_uc022biz.1_Silent_p.A91A	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	285	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						AAGTATGGAATGCCAACATGG	0.333													C	85924522	T	C	85924522	2	2	47	1	0	0	0	0	0	0	0	1	6102	1451	51	3		3	FRMD3	9	85924522	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		85924522	55288909	27	2955											
CYLC2	1539	broad.mit.edu	37	chr9	105767700	105767700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgaaggatgccaagaaaGatgcaaaggagattaaaaaa	22	5	10	4	1	0	3	0	0	0	3	1	6	0	4	1	2	2	1	1	2	8	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr9:105767700G>T	uc004bbs.2	+	4	857	c.787G>T	c.(787-789)Gat>Tat	p.D263Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	263	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.D263D(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TGCCAAGAAAGATGCAAAGGA	0.383													T	105767700	G	T	105767700	3	4	47	1	0	0	0	0	1	0	0	0	4175	942	33	4	805	4	CYLC2	9	105767700	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	19843178	105767700	35445731	28	2956											
LIPK	643414	broad.mit.edu	37	chr10	90497505	90497505	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaacttcctatttacTctgagtggatttgatccgca	9	14	8	10	1	1	2	0	2	1	0	3	3	3	3	2	1	4	3	2	1	3	5			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr10:90497505T>C	uc010qmv.2	+	5	783	c.783T>C	c.(781-783)acT>acC	p.T261T		NM_001080518	NP_001073987	Q5VXJ0	LIPK_HUMAN	Homo sapiens lipase, family member K (LIPK), mRNA.	261					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		TCCTATTTACTCTGAGTGGAT	0.383													C	90497505	T	C	90497505	2	2	47	1	0	0	0	0	0	0	0	1	8888	1538	54	3		3	LIPK	10	90497505	Silent	SNP	T	TCGA-06-0219-01A-01D-1491-08		90497505	45037242	29	2957											
MUC5B	727897	broad.mit.edu	37	chr11	1272821	1272821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccgtggggaccacccGcacccctgcagtgctcccca	6	5	10	20	2	0	0	0	0	0	0	2	1	2	1	8	2	2	3	8	2	0	0	rs56353324		TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:1272821G>A	uc001lta.3	+	30	14770	c.14711G>A	c.(14710-14712)cGc>cAc	p.R4904H		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4904	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACCACCCGCACCCCTGCA	0.652													A	1272821	G	A	1272821	3	1	47	1	0	0	0	0	1	0	0	0	10055	1087	38	1	14842	1	MUC5B	11	1272821	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		1272821	133733695	30	2958											
OR51D1	390038	broad.mit.edu	37	chr11	4661423	4661423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccatggcttttgacCgctttgtggccatttgccac	4	14	11	12	1	0	1	0	1	0	0	0	1	0	1	4	3	2	3	4	3	0	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:4661423C>T	uc010qyk.2	+	0	479	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCTTTTGACCGCTTTGTGGC	0.542													T	4661423	C	T	4661423	3	4	47	1	0	0	0	0	1	0	0	0	11169	652	23	1	405	1	OR51D1	11	4661423	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	3388602	4661423	130345093	31	2959											
RBMXL2	27288	broad.mit.edu	37	chr11	7110545	7110545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgcagacgccaaggccgCcgccagagacatgaacggca	11	1	12	17	5	0	3	0	1	0	2	0	4	0	3	6	2	1	2	6	2	2	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:7110545C>T	uc001mfc.2	+	0	381	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	65	RRM.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAAGGCCGCCGCCAGAGAC	0.647													T	7110545	C	T	7110545	3	4	47	1	0	0	0	0	1	0	0	0	13242	739	26	2	196	2	RBMXL2	11	7110545	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	2449122	7110545	127895971	32	2960											
SLC17A6	57084	broad.mit.edu	37	chr11	22391734	22391734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggatttgaaattagcaaGgtatgtaaaatgtattctta	14	17	8	2	0	1	1	0	1	1	0	1	2	1	2	0	2	1	4	0	2	8	8			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:22391734G>C	uc001mqk.3	+	8	1454	c.1041_splice	c.e8+1	p.K347_splice		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	347					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						AAATTAGCAAGGTATGTAAAA	0.279													C	22391734	G	C	22391734	3	2	47	1	0	0	0	0	1	0	0	0	14515	1014	35	4	1071	4	SLC17A6	11	22391734	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	15281189	22391734	112614782	33	2961											
MPEG1	219972	broad.mit.edu	37	chr11	58978613	58978613	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcccggatttgacgcaatAggacacttggcatccatcgc	10	8	11	12	3	0	1	0	1	0	0	2	4	1	3	2	3	1	2	2	3	2	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr11:58978613A>G	uc001nnu.4	-	0	1882	c.1726T>C	c.(1726-1728)Tat>Cat	p.Y576H		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	576						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTGACGCAATAGGACACTTGG	0.602													G	58978613	A	G	58978613	3	3	47	1	0	0	0	0	1	0	0	0	9799	420	15	3	428	3	MPEG1	11	58978613	Missense_Mutation	SNP	A	TCGA-06-0219-01A-01D-1491-08	36586879	58978613	76027903	34	2962											
KCNJ8	3764	broad.mit.edu	37	chr12	21918727	21918727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtaccatgagggaagaaTtgttccttcggatagaattg	11	13	12	5	1	0	3	0	1	0	2	2	5	1	5	2	3	1	2	2	3	5	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:21918727T>C	uc001rff.3	-	2	1543	c.1205A>G	c.(1204-1206)aAt>aGt	p.N402S		NM_004982	NP_004973	Q15842	IRK8_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 8 (KCNJ8), mRNA.	402						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	GAGGGAAGAATTGTTCCTTCG	0.408													C	21918727	T	C	21918727	3	2	47	1	0	0	0	0	1	0	0	0	8114	1493	52	3	73	3	KCNJ8	12	21918727	Missense_Mutation	SNP	T	TCGA-06-0219-01A-01D-1491-08		21918727	111933168	35	2963											
NTN4	59277	broad.mit.edu	37	chr12	96052972	96052972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcctgttcttatatcctCatgtcctgctacaaggtatt	7	18	6	10	0	2	0	1	0	1	0	4	0	4	0	3	1	3	3	3	1	5	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:96052972C>T	uc001tei.3	-	9	2226	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	NTN4_uc009ztf.3_Missense_Mutation_p.E570K|NTN4_uc009ztg.3_Missense_Mutation_p.E556K	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	593	NTR.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						CTTATATCCTCATGTCCTGCT	0.368													T	96052972	C	T	96052972	3	4	47	1	0	0	0	0	1	0	0	0	10778	835	29	2	113	2	NTN4	12	96052972	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	74134245	96052972	37798923	36	2964											
GLT8D2	83468	broad.mit.edu	37	chr12	104390581	104390581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgagaaagccgccgCgtggcccagggccaaggtgg	8	5	16	12	3	2	1	1	1	1	1	2	2	2	1	4	4	1	0	4	4	2	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:104390581C>T	uc001tkh.1	-	7	1089	c.532G>A	c.(532-534)Gcg>Acg	p.A178T	GLT8D2_uc001tki.1_Missense_Mutation_p.A178T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	178						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAAGCCGCCGCGTGGCCCAGG	0.478													T	104390581	C	T	104390581	3	4	47	1	0	0	0	0	1	0	0	0	6526	768	27	1	533	1	GLT8D2	12	104390581	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	8337609	104390581	29461314	37	2965											
ACACB	32	broad.mit.edu	37	chr12	109696853	109696853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtcaaggacttcaacCgggagaagttgcccctgatg	10	7	13	11	2	2	2	2	1	0	1	2	4	2	3	4	3	2	1	4	3	3	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:109696853C>T	uc001tob.3	+	46	6555	c.6436C>T	c.(6436-6438)Cgg>Tgg	p.R2146W	ACACB_uc001toc.3_Missense_Mutation_p.R2146W|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.R812W	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2146	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGACTTCAACCGGGAGAAGTT	0.572													T	109696853	C	T	109696853	3	4	47	1	0	0	0	0	1	0	0	0	107	643	23	1	6618	1	ACACB	12	109696853	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	5306272	109696853	24155042	38	2966											
ACAD10	80724	broad.mit.edu	37	chr12	112182642	112182642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcagcaggagttataGctccgttccagaagcttccc	10	8	10	13	1	0	1	0	0	0	1	3	2	3	2	3	2	3	6	3	2	3	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr12:112182642G>C	uc009zvx.3	+	13	2203	c.2003G>C	c.(2002-2004)aGc>aCc	p.S668T	ACAD10_uc001tsp.3_Missense_Mutation_p.S637T|ACAD10_uc001tsq.3_Missense_Mutation_p.S637T|ACAD10_uc001tss.1_Non-coding_Transcript	NM_001136538	NP_001130010	Q6JQN1	ACD10_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 10 (ACAD10), transcript variant 1, mRNA.	637							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups	p.Y667F(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGGAGTTATAGCTCCGTTCCA	0.562													C	112182642	G	C	112182642	3	2	47	1	0	0	0	0	1	0	0	0	108	971	34	4	2053	4	ACAD10	12	112182642	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08	2485789	112182642	21669253	39	2967											
NUFIP1	26747	broad.mit.edu	37	chr13	45554922	45554922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaaccacgatcacaggtatCacaaaaaaagtgaaaaactg	22	5	6	8	1	2	1	2	1	0	0	2	2	2	1	1	1	2	1	1	1	8	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr13:45554922C>T	uc001uzp.2	-	2	571	c.529G>A	c.(529-531)Gat>Aat	p.D177N		NM_012345	NP_036477	Q9UHK0	NUFP1_HUMAN	Homo sapiens nuclear fragile X mental retardation protein interacting protein 1 (NUFIP1), mRNA.	177					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TCACAGGTATCACAAAAAAAG	0.313													T	45554922	C	T	45554922	3	4	47	1	0	0	0	0	1	0	0	0	10824	826	29	2	990	2	NUFIP1	13	45554922	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		45554922	69614956	40	2968											
ESRRB	2103	broad.mit.edu	37	chr14	76905790	76905790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcatcgatgccctcagcCaccacagccccagtggctcg	7	5	11	18	3	1	0	1	0	0	0	3	1	1	0	5	2	3	2	5	2	0	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr14:76905790C>T	uc001xsr.3	+	3	465	c.94C>T	c.(94-96)Cac>Tac	p.H32Y	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.H32Y	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	32						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGCCCTCAGCCACCACAGCCC	0.682													T	76905790	C	T	76905790	3	4	47	1	0	0	0	0	1	0	0	0	5302	594	21	2	96	2	ESRRB	14	76905790	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		76905790	30443750	41	2969											
RYR3	6263	broad.mit.edu	37	chr15	34130561	34130561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttacgtgttagaaattgCgggtgaagaggaagaagacg	13	10	14	4	3	1	5	0	1	1	4	1	6	1	6	0	2	2	1	0	2	6	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr15:34130561C>T	uc001zhi.3	+	88	12450	c.12380C>T	c.(12379-12381)gCg>gTg	p.A4127V	RYR3_uc010bar.3_Missense_Mutation_p.A4122V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4127					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTAGAAATTGCGGGTGAAGAG	0.483													T	34130561	C	T	34130561	3	4	47	1	0	0	0	0	1	0	0	0	13861	768	27	1	12734	1	RYR3	15	34130561	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		34130561	68400831	42	2970											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282053	71282053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgcttcagcccgtacgtgGccttgggcacgacaggcaga	8	7	13	13	3	1	1	1	0	0	1	1	2	1	1	2	3	3	4	2	3	1	3			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr17:71282053G>A	uc002jjn.3	-	1	734	c.587C>T	c.(586-588)gCc>gTc	p.A196V	CDC42EP4_uc002jjo.3_Missense_Mutation_p.A196V|CDC42EP4_uc002jjp.1_Missense_Mutation_p.A126V|CDC42EP4_uc021ucn.1_Missense_Mutation_p.A196V	NM_012121	NP_036253	Q9H3Q1	BORG4_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 4 (CDC42EP4), mRNA.	196					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			CCCGTACGTGGCCTTGGGCAC	0.632													A	71282053	G	A	71282053	3	1	47	1	0	0	0	0	1	0	0	0	3108	1203	42	2	487	2	CDC42EP4	17	71282053	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		71282053	9913157	43	2971											
EPB41L3	23136	broad.mit.edu	37	chr18	5428421	5428421	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcgcgatatatcaacagaCcacttgcacaaactcctaac	14	8	6	13	2	1	1	1	0	0	1	3	2	2	1	2	1	4	1	2	1	5	4			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr18:5428421C>G	uc002kmt.1	-	8	1042	c.956G>C	c.(955-957)gGt>gCt	p.G319A	EPB41L3_uc010wzh.1_Missense_Mutation_p.G319A|EPB41L3_uc002kmu.1_Missense_Mutation_p.G319A|EPB41L3_uc010dkq.1_Missense_Mutation_p.G210A|EPB41L3_uc010dks.1_Missense_Mutation_p.G341A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	319	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TATCAACAGACCACTTGCACA	0.393													G	5428421	C	G	5428421	3	3	47	1	0	0	0	0	1	0	0	0	5195	507	18	4	2363	4	EPB41L3	18	5428421	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		5428421	72648827	44	2972											
ATCAY	85300	broad.mit.edu	37	chr19	3907818	3907818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggaggacggcagcgccGccaacgggcgcctgtggcgg	6	2	19	14	8	0	0	0	0	0	0	0	3	0	2	3	6	2	1	3	6	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:3907818G>A	uc010xhz.2	+	5	946	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	ATCAY_uc002lyy.4_Missense_Mutation_p.A149T|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	149					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGCAGCGCCGCCAACGGGCG	0.642													A	3907818	G	A	3907818	3	1	47	1	0	0	0	0	1	0	0	0	1082	1087	38	1	459	1	ATCAY	19	3907818	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		3907818	55221165	45	2973											
ZNF536	9745	broad.mit.edu	37	chr19	30935903	30935903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatctccagcatggcccaCggcgtcccggagggggacaa	8	4	13	16	3	1	0	0	0	1	0	3	2	2	2	4	5	1	1	4	5	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:30935903C>G	uc002nsu.1	+	1	1572	c.1434C>G	c.(1432-1434)caC>caG	p.H478Q	ZNF536_uc010edd.1_Missense_Mutation_p.H478Q	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	478					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCATGGCCCACGGCGTCCCGG	0.662													G	30935903	C	G	30935903	3	3	47	1	0	0	0	0	1	0	0	0	18075	535	19	4	1436	4	ZNF536	19	30935903	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	27028085	30935903	28193080	46	2974											
MLL2	9757	broad.mit.edu	37	chr19	36214780	36214780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggcccgaggagcaggactCcctcctgcagcgcaagtcag	9	4	14	14	2	1	0	1	0	0	0	3	3	3	2	3	3	3	3	3	3	1	0			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:36214780C>G	uc021usv.1	+	7	3206	c.3206C>G	c.(3205-3207)tCc>tGc	p.S1069C	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	831	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.S1071F(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGCAGGACTCCCTCCTGCAG	0.716			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	36214780	C	G	36214780	3	3	47	1	0	0	0	0	1	0	0	0	9696	855	30	4		4	MLL2	19	36214780	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08	5278877	36214780	22914203	47	2975											
MARK4	57787	broad.mit.edu	37	chr19	45774954	45774954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctccctgcccttcgacggGcacaacctcaaggtaccgag	8	6	11	16	3	1	0	1	0	0	0	3	2	2	0	4	3	3	3	4	3	3	2			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:45774954G>A	uc002pbb.2	+	7	1105	c.774G>A	c.(772-774)ggG>ggA	p.G258G	MARK4_uc002paz.2_Missense_Mutation_p.G69D|MARK4_uc002pba.2_Silent_p.G258G|MARK4_uc002pbc.1_Silent_p.G124G	NM_001199867	NP_001186796	Q96L34	MARK4_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 4 (MARK4), transcript variant 1, mRNA.	258	Protein kinase.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCTTCGACGGGCACAACCTCA	0.657													A	45774954	G	A	45774954	2	1	47	1	0	0	0	0	0	0	0	1	9390	1190	42	2		2	MARK4	19	45774954	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	9560174	45774954	13354029	48	2976											
SIGLEC6	946	broad.mit.edu	37	chr19	52034451	52034451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttggaagatgtataaccGtatttcatccatttggactt	11	15	8	7	1	1	1	1	0	0	1	2	3	2	3	2	2	2	3	2	2	4	7			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr19:52034451G>A	uc002pwy.3	-	1	598	c.390C>T	c.(388-390)taC>taT	p.Y130Y	SIGLEC6_uc002pwz.3_Silent_p.Y130Y|SIGLEC6_uc010ydb.2_Silent_p.Y94Y|SIGLEC6_uc010ydc.2_Silent_p.Y130Y|SIGLEC6_uc002pxa.3_Silent_p.Y130Y|SIGLEC6_uc010eoz.2_Silent_p.Y130Y|SIGLEC6_uc010epa.2_Silent_p.Y119Y|SIGLEC6_uc010epb.2_Silent_p.Y83Y	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	130					cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		ATGTATAACCGTATTTCATCC	0.547													A	52034451	G	A	52034451	2	1	47	1	0	0	0	0	0	0	0	1	14406	1140	40	1		1	SIGLEC6	19	52034451	Silent	SNP	G	TCGA-06-0219-01A-01D-1491-08	6259497	52034451	7094532	49	2977											
C20orf152	140894	broad.mit.edu	37	chr20	34572591	34572591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaggaggtccaccatcGtctgtatggaagaaacggag	12	7	14	8	2	1	2	0	1	1	1	3	5	2	5	2	4	1	1	2	4	3	1			TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chr20:34572591G>A	uc002xer.1	+	5	763	c.607G>A	c.(607-609)Gtc>Atc	p.V203I	C20orf152_uc002xes.1_Missense_Mutation_p.V203I|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	203								p.V203I(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					GTCCACCATCGTCTGTATGGA	0.527													A	34572591	G	A	34572591	3	1	47	1	0	0	0	0	1	0	0	0	2113	1145	40	1	629	1	C20orf152	20	34572591	Missense_Mutation	SNP	G	TCGA-06-0219-01A-01D-1491-08		34572591	28452929	50	2978											
MXRA5	25878	broad.mit.edu	37	chrX	3235658	3235658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccacgcacttatagaCgcctctgtctgagaaggacg	9	8	12	12	3	2	2	0	1	2	2	2	4	2	3	2	2	0	2	2	2	3	2	rs140532419	byFrequency	TCGA-06-0219-01A-01D-1491-08	TCGA-06-0219-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c6c454-058f-41ec-93c3-3cff44bed149	83f3feb7-bc3d-4ee4-bcee-4babe9446508	g.chrX:3235658C>T	uc004crg.4	-	5	6221	c.6064G>A	c.(6064-6066)Gtc>Atc	p.V2022I		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2022	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CACTTATAGACGCCTCTGTCT	0.642													T	3235658	C	T	3235658	3	4	47	1	0	0	0	0	1	0	0	0	10079	536	19	1	2430	1	MXRA5	23	3235658	Missense_Mutation	SNP	C	TCGA-06-0219-01A-01D-1491-08		3235658	152034902	51	2979											
AGRN	375790	broad.mit.edu	37	chr1	978952	978952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctttggagccctgtgCgaggccgagaccgggcgctg	4	7	17	13	5	0	1	0	0	0	1	0	4	0	2	4	3	3	2	4	3	0	1	rs142440782		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:978952C>T	uc001ack.2	+	8	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	546	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692													T	978952	C	T	978952	2	4	48	1	0	0	0	0	0	0	0	1	397	776	27	1		1	AGRN	1	978952	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		978952	248271669	1	2980											
GALE	2582	broad.mit.edu	37	chr1	24125491	24125491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgttaccagcaccttctCtgccatggcacctggcccag	7	9	8	17	0	1	0	0	0	1	0	2	0	1	0	6	2	3	3	6	2	1	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:24125491C>G	uc009vqo.1	-	1	217	c.7G>C	c.(7-9)Gag>Cag	p.E3Q	GALE_uc001bhv.1_Missense_Mutation_p.E3Q|GALE_uc001bhx.1_Missense_Mutation_p.E3Q|GALE_uc001bhz.1_Intron|GALE_uc009vqq.1_Missense_Mutation_p.E3Q	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	3					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		AGCACCTTCTCTGCCATGGCA	0.592													G	24125491	C	G	24125491	3	3	48	1	0	0	0	0	1	0	0	0	6256	922	32	4	1079	4	GALE	1	24125491	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	23146539	24125491	225125130	2	2981											
USH2A	7399	broad.mit.edu	37	chr1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcaagtttccattaCgactcaattgatattgagaa	16	11	8	6	1	1	2	1	2	0	1	2	5	2	3	1	1	2	2	1	1	7	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:215933077C>T	uc001hku.1	-	56	11543	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3719	Fibronectin type-III 22.				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)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)			T	215933077	C	T	215933077	3	4	48	1	0	0	0	0	1	0	0	0	17138	536	19	1	4516	1	USH2A	1	215933077	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	191807586	215933077	33317544	3	2982											
OBSCN	84033	broad.mit.edu	37	chr1	228494689	228494689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcgagctgagccgggCgggtgcgagcgtggagtggc	5	6	21	9	5	0	1	0	1	0	0	0	4	0	2	1	4	6	2	1	4	0	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:228494689C>T	uc009xez.1	+	44	12058	c.12014C>T	c.(12013-12015)gCg>gTg	p.A4005V	OBSCN_uc001hsn.3_Missense_Mutation_p.A4005V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4005	Ig-like 41.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGAGCCGGGCGGGTGCGAGC	0.657													T	228494689	C	T	228494689	3	4	48	1	0	0	0	0	1	0	0	0	10888	768	27	1	12188	1	OBSCN	1	228494689	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	12561612	228494689	20755932	4	2983											
RYR2	6262	broad.mit.edu	37	chr1	237813234	237813234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggtacctttgcacagccGtcttgccattgttaacaaga	10	12	8	11	2	1	1	0	0	1	1	2	1	1	1	3	1	5	3	3	1	3	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr1:237813234G>A	uc001hyl.1	+	49	7690	c.7570G>A	c.(7570-7572)Gtc>Atc	p.V2524I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2524	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCACAGCCGTCTTGCCATT	0.463													A	237813234	G	A	237813234	3	1	48	1	0	0	0	0	1	0	0	0	13860	1145	40	1	7768	1	RYR2	1	237813234	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	9318545	237813234	11437387	5	2984											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257073	114257073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgagggcggcggcccgagCgacccctcagagtttggcac	7	5	15	14	5	1	1	1	0	0	1	2	4	1	1	3	4	1	2	3	4	0	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr2:114257073C>T	uc002tjw.4	+	0	413	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_012184	NP_036316	Q9NU39	FX4L1_HUMAN	Homo sapiens forkhead box D4-like 1 (FOXD4L1), mRNA.	80					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						GCGGCCCGAGCGACCCCTCAG	0.697													T	114257073	C	T	114257073	2	4	48	1	0	0	0	0	0	0	0	1	6049	767	27	1		1	FOXD4L1	2	114257073	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		114257073	128942300	6	2985											
FANCD2	2177	broad.mit.edu	37	chr3	10084272	10084272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgatggataagttgtcGtctattagattggaggattt	9	17	13	2	1	1	2	0	1	1	1	2	5	1	5	0	4	0	1	0	4	3	7			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:10084272G>A	uc003buw.3	+	10	891	c.813G>A	c.(811-813)tcG>tcA	p.S271S	FANCD2_uc003bux.1_Silent_p.S271S|FANCD2_uc003buy.1_Silent_p.S271S	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	271	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S271S(3)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATAAGTTGTCGTCTATTAGAT	0.373			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10084272	G	A	10084272	2	1	48	1	0	0	0	0	0	0	0	1	5714	1132	40	1		1	FANCD2	3	10084272	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		10084272	187938158	7	2986											
PLS1	5357	broad.mit.edu	37	chr3	142405148	142405148	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagagcctattttcatcTgcttaatcagattgccccta	9	14	6	12	1	3	2	2	0	1	2	4	3	3	2	3	0	3	1	3	0	3	6			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:142405148T>G	uc010huv.3	+	8	1070	c.911T>G	c.(910-912)cTg>cGg	p.L304R	PLS1_uc003euz.3_Missense_Mutation_p.L304R|PLS1_uc003eva.3_Missense_Mutation_p.L304R	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	304	Actin-binding 1.|CH 2.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						TATTTTCATCTGCTTAATCAG	0.348													G	142405148	T	G	142405148	3	3	48	1	0	0	0	0	1	0	0	0	12184	1580	55	5	941	5	PLS1	3	142405148	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	132320876	142405148	55617282	8	2987											
CRYGS	1427	broad.mit.edu	37	chr3	186256595	186256595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcctgccacggtagttggGtagctcatagaaaatccaga	11	9	11	10	1	1	2	1	0	0	2	2	2	2	2	3	2	3	4	3	2	5	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr3:186256595G>T	uc003fqe.3	-	2	479	c.427C>A	c.(427-429)Ccc>Acc	p.P143T		NM_017541	NP_060011	P22914	CRBS_HUMAN	Homo sapiens crystallin, gamma S (CRYGS), mRNA.	143	Beta/gamma crystallin 'Greek key' 4.						structural constituent of eye lens			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	11	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.5e-22)	GBM - Glioblastoma multiforme(93;0.0906)		CGGTAGTTGGGTAGCTCATAG	0.547													T	186256595	G	T	186256595	3	4	48	1	0	0	0	0	1	0	0	0	3950	1261	44	4	113	4	CRYGS	3	186256595	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	43851447	186256595	11765835	9	2988											
CCDC158	339965	broad.mit.edu	37	chr4	77252544	77252544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcagtggagtccctcaaCgagttgttgcttctgttggt	5	15	11	10	1	3	0	2	0	1	0	4	2	4	1	2	2	2	4	2	2	1	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:77252544C>T	uc003hkb.4	-	19	3036	c.2883G>A	c.(2881-2883)tcG>tcA	p.S961S		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	961	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						AGTCCCTCAACGAGTTGTTGC	0.363													T	77252544	C	T	77252544	2	4	48	1	0	0	0	0	0	0	0	1	2817	523	19	1		1	CCDC158	4	77252544	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		77252544	113901732	10	2989											
HPSE	10855	broad.mit.edu	37	chr4	84223361	84223361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctttgaaccttgcaCgcttgccattaacaccttgg	7	14	6	14	1	1	1	0	1	1	0	2	1	1	1	4	1	4	2	4	1	2	6	rs138550346		TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:84223361C>T	uc003hoj.4	-	9	1366	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	HPSE_uc003hoi.3_Missense_Mutation_p.V365M|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.V166M|HPSE_uc003hok.4_Missense_Mutation_p.V423M|HPSE_uc011cct.2_Missense_Mutation_p.V349M	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	423					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GAACCTTGCACGCTTGCCATT	0.408													T	84223361	C	T	84223361	3	4	48	1	0	0	0	0	1	0	0	0	7399	536	19	1	376	1	HPSE	4	84223361	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	6970817	84223361	106930915	11	2990											
ASB5	140458	broad.mit.edu	37	chr4	177136841	177136841	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcctatgtagcttcggatAcagagtcggcaaagttggta	10	13	11	7	2	0	1	0	0	0	1	3	2	1	2	1	3	2	5	1	3	5	7			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr4:177136841A>G	uc003iuq.2	-	6	1014	c.900T>C	c.(898-900)tgT>tgC	p.C300C	ASB5_uc003iup.2_Silent_p.C247C	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	300	SOCS box.				intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		AGCTTCGGATACAGAGTCGGC	0.363													G	177136841	A	G	177136841	2	3	48	1	0	0	0	0	0	0	0	1	1031	389	14	3		3	ASB5	4	177136841	Silent	SNP	A	TCGA-06-0237-01A-02D-1491-08	92913480	177136841	14017435	12	2991											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182428	182428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgctgagccgcacacGccaggcctgatgactgtcag	7	8	13	13	2	1	3	1	3	0	0	1	3	1	3	3	1	3	3	3	1	0	0	rs111247576	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:182428G>A	uc003jak.2	+	17	3856	c.3806G>A	c.(3805-3807)cGc>cAc	p.R1269H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1269					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGCCGCACACGCCAGGCCTGA	0.632													A	182428	G	A	182428	3	1	48	1	0	0	0	0	1	0	0	0	12149	1087	38	1	3876	1	PLEKHG4B	5	182428	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		182428	180732832	13	2992											
IL31RA	133396	broad.mit.edu	37	chr5	55204208	55204208	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctgcaactacaccatCttttaccaagctgaaggtgg	12	11	7	11	0	3	1	1	1	2	0	3	1	3	1	2	2	5	2	2	2	5	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:55204208C>A	uc003jql.3	+	10	1662	c.1470C>A	c.(1468-1470)atC>atA	p.I490I	IL31RA_uc003jqk.3_Silent_p.I490I|IL31RA_uc011cqj.2_Silent_p.I348I|IL31RA_uc003jqm.3_Silent_p.I471I|IL31RA_uc003jqn.3_Silent_p.I490I|IL31RA_uc010iwa.1_Silent_p.I458I|IL31RA_uc021xyq.1_Silent_p.I471I|IL31RA_uc003jqo.3_Silent_p.I348I	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	458	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTACACCATCTTTTACCAAG	0.473													A	55204208	C	A	55204208	2	1	48	1	0	0	0	0	0	0	0	1	7749	903	32	4		4	IL31RA	5	55204208	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	55021780	55204208	125711052	14	2993											
HSD17B4	3295	broad.mit.edu	37	chr5	118810095	118810095	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaaattttcctttccctcaGattcagtggaagaaggagag	13	11	9	8	0	2	3	2	0	0	3	4	5	4	4	2	2	0	0	2	2	3	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:118810095G>C	uc003ksj.3	+	4	354	c.221_splice	c.e4-1	p.D74_splice	HSD17B4_uc011cwh.2_Splice_Site_p.D56_splice|HSD17B4_uc011cwg.2_Splice_Site_p.D50_splice|HSD17B4_uc011cwi.2_Splice_Site_p.D99_splice|HSD17B4_uc003ksk.4_Splice_Site|HSD17B4_uc011cwj.2_5'Flank|HSD17B4_uc010jcn.2_5'Flank	NM_000414	NP_000405	P51659	DHB4_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 4 (HSD17B4), transcript variant 2, mRNA.	74	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	CTTTCCCTCAGATTCAGTGGA	0.428													C	118810095	G	C	118810095	5	2	48	1	0	0	0	0	0	0	1	0	7441	956	33	4	234	4	HSD17B4	5	118810095	Splice_Site	SNP	G	TCGA-06-0237-01A-02D-1491-08	63605887	118810095	62105165	15	2994											
ADAMTS19	171019	broad.mit.edu	37	chr5	128796140	128796140	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgctgctgcctcctttAccagctggggttcctgtcga	3	13	11	14	1	0	0	0	0	0	0	3	1	2	0	4	2	6	5	4	2	1	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:128796140A>C	uc003kvb.1	+	0	38	c.38A>C	c.(37-39)tAc>tCc	p.Y13S	ADAMTS19_uc003kvc.1_5'Flank	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	13					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGCCTCCTTTACCAGCTGGGG	0.622													C	128796140	A	C	128796140	3	2	48	1	0	0	0	0	1	0	0	0	264	391	14	5	40	5	ADAMTS19	5	128796140	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08	9986045	128796140	52119120	16	2995											
PCDHAC2	56139	broad.mit.edu	37	chr5	140237348	140237348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtctcccgctggcagcgCgggcggtgcagtcagtgagc	4	6	18	13	5	2	1	1	1	1	0	3	1	2	1	1	4	3	3	1	4	0	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140237348C>T	uc003lhx.2	+	0	1715	c.1715C>T	c.(1714-1716)gCg>gTg	p.A572V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Missense_Mutation_p.A572V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	586	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGCAGCGCGGGCGGTGCA	0.682													T	140237348	C	T	140237348	3	4	48	1	0	0	0	0	1	0	0	0	11609	768	27	1		1	PCDHAC2	5	140237348	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	11441208	140237348	40677912	17	2996											
PCDHAC2	56135	broad.mit.edu	37	chr5	140307832	140307832	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcaaccccagcaggaacTtttcgttgctgaaaacaatg	12	10	7	12	1	1	1	1	1	0	0	3	2	2	2	3	1	5	3	3	1	5	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:140307832T>C	uc003lih.2	+	0	1531	c.1355T>C	c.(1354-1356)cTt>cCt	p.L452P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Missense_Mutation_p.L452P	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	476	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGGAACTTTTCGTTGCT	0.527													C	140307832	T	C	140307832	3	2	48	1	0	0	0	0	1	0	0	0	11609	1609	56	3		3	PCDHAC2	5	140307832	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	70484	140307832	40607428	18	2997											
KIF4B	285643	broad.mit.edu	37	chr5	154395374	154395374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgggtacagttaatgcGtcaaatgaaagaggatgctg	13	8	13	7	2	1	2	1	1	0	1	1	3	1	3	1	2	4	3	1	2	4	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:154395374G>A	uc010jih.1	+	0	2115	c.1955G>A	c.(1954-1956)cGt>cAt	p.R652H		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	652					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R652H(3)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CAGTTAATGCGTCAAATGAAA	0.408													A	154395374	G	A	154395374	3	1	48	1	0	0	0	0	1	0	0	0	8362	1145	40	1	1957	1	KIF4B	5	154395374	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	14087542	154395374	26519886	19	2998											
TRIM52	84851	broad.mit.edu	37	chr5	180687305	180687305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggcaaggaaggaggcggGtggatgtcaggatacagctc	11	5	19	6	1	1	0	1	0	0	0	2	4	1	4	0	8	2	2	0	8	3	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr5:180687305G>A	uc003mnp.3	-	0	815	c.510C>T	c.(508-510)caC>caT	p.H170H	BC016291_uc003mnq.3_5'Flank	NM_032765	NP_116154	Q96A61	TRI52_HUMAN	Homo sapiens tripartite motif containing 52 (TRIM52), mRNA.	170						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		AAGGAGGCGGGTGGATGTCAG	0.537													A	180687305	G	A	180687305	2	1	48	1	0	0	0	0	0	0	0	1	16628	1252	44	2		2	TRIM52	5	180687305	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	26291931	180687305	227955	20	2999											
DNAH8	1769	broad.mit.edu	37	chr6	38885721	38885721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgatgagtgcaacaggattCctgtggagccttcagcagtt	9	12	12	8	0	1	2	1	2	0	0	2	4	2	4	2	2	4	3	2	2	1	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:38885721C>A	uc021yzh.1	+	69	10438	c.10329C>A	c.(10327-10329)ttC>ttA	p.F3443L	DNAH8_uc003ooe.2_Missense_Mutation_p.F3226L|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAACAGGATTCCTGTGGAGCC	0.333													A	38885721	C	A	38885721	3	1	48	1	0	0	0	0	1	0	0	0	4646	854	30	4	9940	4	DNAH8	6	38885721	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08		38885721	132229346	21	3000											
RSPO3	84870	broad.mit.edu	37	chr6	127469869	127469869	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggatgtttgtcatgtaaGcccagactattttttgctct	9	17	8	7	0	2	1	1	0	1	1	2	2	2	2	1	1	2	3	1	1	3	6			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:127469869G>C	uc003qas.1	+	1	464	c.174G>C	c.(172-174)aaG>aaC	p.K58N	RSPO3_uc003qar.3_Missense_Mutation_p.K58N	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	58						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TGTCATGTAAGCCCAGACTAT	0.423													C	127469869	G	C	127469869	3	2	48	1	0	0	0	0	1	0	0	0	13802	962	34	4	180	4	RSPO3	6	127469869	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	88584148	127469869	43645198	22	3001											
QKI	9444	broad.mit.edu	37	chr6	163984752	163984755	+	Splice_Site	DEL	GTAA	GTAA	-																															tgaacctagtggtgtattagGtaagttcttctccccatggg																										TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr6:163984752_163984755delGTAA	uc003qui.3	+	6	1485	c.934_splice	c.e6+1	p.G312_splice	QKI_uc003quj.3_Splice_Site_p.G304_splice|QKI_uc003quh.3_Splice_Site_p.E304_splice|QKI_uc003que.3_Frame_Shift_Del_p.G312fs|QKI_uc003quf.3_Splice_Site_p.E312_splice|QKI_uc003qug.3_Splice_Site_p.G312_splice	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	312					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GGTGTATTAGGTAAGTTCTTCTCC	0.387													-	163984755	GTAA	-	163984752	8	5	48	1	0	1	0	1	0	0	1	0	12961	1275	44	0	957	0	QKI	6	163984752	Splice_Site	DEL	GTAA	TCGA-06-0237-01A-02D-1491-08	36514883	163984752	7130315	23	3002											
DNAH11	8701	broad.mit.edu	37	chr7	21639469	21639469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatttatgtagaattcaTtgacgacattgtggtggaag	14	13	11	3	1	1	2	1	1	0	1	1	5	1	3	0	2	0	1	0	2	6	6			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:21639469T>C	uc003svc.3	+	14	2763	c.2732T>C	c.(2731-2733)aTt>aCt	p.I911T		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	911	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GTAGAATTCATTGACGACATT	0.373									Kartagener syndrome				C	21639469	T	C	21639469	3	2	48	1	0	0	0	0	1	0	0	0	4638	1493	52	3	2790	3	DNAH11	7	21639469	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08		21639469	137499194	24	3003											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:55210075T>G	uc003tqk.3	+	1	431	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.L62R(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55210075	T	G	55210075	3	3	48	1	0	0	0	0	1	0	0	0	5006	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	33570606	55210075	103928588	25	3004											
JHDM1D	80853	broad.mit.edu	37	chr7	139790907	139790907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctctgtcacacaaagaaaCgtgcatggccatttctgttc	11	11	8	11	1	3	1	1	0	2	1	4	1	3	1	1	1	3	3	1	1	2	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:139790907C>T	uc003vvm.3	-	19	2817	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H	JHDM1D_uc010lng.3_Non-coding_Transcript	NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	938					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					CACAAAGAAACGTGCATGGCC	0.502													T	139790907	C	T	139790907	3	4	48	1	0	0	0	0	1	0	0	0	8006	536	19	1	16	1	JHDM1D	7	139790907	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	84580832	139790907	19347756	26	3005											
MLL3	58508	broad.mit.edu	37	chr7	151849845	151849845	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagccggtaagagctcacTaatctgggagggtttgcaga	10	10	13	8	1	3	2	2	0	1	2	3	3	3	3	1	3	3	4	1	3	2	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr7:151849845T>C	uc003wla.3	-	48	12690	c.12471A>G	c.(12469-12471)ttA>ttG	p.L4157L	MLL3_uc003wkz.3_Silent_p.L3275L|MLL3_uc003wkx.3_Silent_p.L315L|MLL3_uc003wky.3_Silent_p.L1721L	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	4157					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		AAGAGCTCACTAATCTGGGAG	0.498			N		medulloblastoma								C	151849845	T	C	151849845	2	2	48	1	0	0	0	0	0	0	0	1	9697	1519	53	3		3	MLL3	7	151849845	Silent	SNP	T	TCGA-06-0237-01A-02D-1491-08	12058938	151849845	7288818	27	3006											
RP1L1	94137	broad.mit.edu	37	chr8	10469370	10469370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactccagaaacaaaatcCgagtggactgcaggggtgac	14	5	13	9	1	0	3	0	1	0	2	2	6	2	4	2	3	2	1	2	3	3	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:10469370C>T	uc003wtc.3	-	3	2467	c.2238G>A	c.(2236-2238)tcG>tcA	p.S746S		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	746					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AAACAAAATCCGAGTGGACTG	0.652													T	10469370	C	T	10469370	2	4	48	1	0	0	0	0	0	0	0	1	13624	639	23	1		1	RP1L1	8	10469370	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08		10469370	135894652	28	3007											
NOV	4856	broad.mit.edu	37	chr8	120435276	120435276	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtcaagaagccagtgatGgtcattgggacctgcacctg	11	9	12	9	0	2	2	2	1	0	1	2	3	2	3	3	2	2	1	3	2	3	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr8:120435276G>T	uc003yoq.2	+	4	1199	c.978G>T	c.(976-978)atG>atT	p.M326I		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	326	CTCK.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGCCAGTGATGGTCATTGGGA	0.537													T	120435276	G	T	120435276	3	4	48	1	0	0	0	0	1	0	0	0	10629	1348	47	4	996	4	NOV	8	120435276	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	109965906	120435276	25928746	29	3008											
RAG1	5896	broad.mit.edu	37	chr11	36596275	36596275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttgcttggccatccGtgtcaacaccttcctcagct	6	13	8	14	1	2	0	2	0	0	0	4	0	4	0	4	1	4	4	4	1	1	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:36596275G>A	uc021qgb.1	+	0	1421	c.1421G>A	c.(1420-1422)cGt>cAt	p.R474H	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R474H	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	474			R -> H (in OS/T(-)B(-)NK(+) SCID; atypical).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				TTGGCCATCCGTGTCAACACC	0.557									Familial Hemophagocytic Lymphohistiocytosis				A	36596275	G	A	36596275	3	1	48	1	0	0	0	0	1	0	0	0	13091	1145	40	1	1423	1	RAG1	11	36596275	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		36596275	98410241	30	3009											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	3	9	23	6	1	0	1	0	1	0	0	1	2	0	2	0	9	1	3	0	9	1	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:77937662T>G	uc001ozh.3	-	3	1158	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_uc001ozg.3_Silent_p.P314P	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													G	77937662	T	G	77937662	2	3	48	1	0	0	0	0	0	0	0	1	6201	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-06-0237-01A-02D-1491-08	41341387	77937662	57068854	31	3010											
KCNJ5	3762	broad.mit.edu	37	chr11	128781583	128781583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcagtggcttcgtgtccGctttcctgttctccattgag	4	15	9	13	2	2	1	1	1	1	0	6	1	4	1	4	1	0	3	4	1	0	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr11:128781583G>A	uc001qet.3	+	1	729	c.415G>A	c.(415-417)Gct>Act	p.A139T	KCNJ5_uc009zck.3_Missense_Mutation_p.A139T|KCNJ5_uc001qew.3_Missense_Mutation_p.A139T	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	139					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CTTCGTGTCCGCTTTCCTGTT	0.507													A	128781583	G	A	128781583	3	1	48	1	0	0	0	0	1	0	0	0	8112	1087	38	1	417	1	KCNJ5	11	128781583	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	50843921	128781583	6224933	32	3011											
NBEA	26960	broad.mit.edu	37	chr13	36202290	36202290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttggctataagcagcgaGgaccagaagcagttcgtgct	11	10	12	8	2	0	1	0	0	0	1	1	3	0	2	1	2	4	5	1	2	4	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr13:36202290G>A	uc021rid.1	+	48	8056	c.7522G>A	c.(7522-7524)Gga>Aga	p.G2508R	NBEA_uc021ric.1_Missense_Mutation_p.G2505R|NBEA_uc010abi.3_Missense_Mutation_p.G1164R|NBEA_uc010tee.1_Missense_Mutation_p.G301R|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.G301R|NBEA_uc010teg.1_Missense_Mutation_p.G301R|NBEA_uc001uvd.3_Missense_Mutation_p.G65R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2508	BEACH.					cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TAAGCAGCGAGGACCAGAAGC	0.438													A	36202290	G	A	36202290	3	1	48	1	0	0	0	0	1	0	0	0	10263	1001	35	2	7716	2	NBEA	13	36202290	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		36202290	78967588	33	3012											
INF2	64423	broad.mit.edu	37	chr14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G																															atgggtccccagccatcggcINSgggtgaacccacccacactg																										TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr14:105174270_105174271insG	uc001ypb.2	+	7	1809_1810	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_uc001ypc.2_Frame_Shift_Ins_p.R556fs|INF2_uc010awz.1_Non-coding_Transcript	NM_022489	NP_071934	Q27J81	INF2_HUMAN	Homo sapiens inverted formin, FH2 and WH2 domain containing (INF2), transcript variant 1, mRNA.	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													G	105174271	-	G	105174270	7	5	48	1	0	1	1	0	0	0	0	0	7792	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-06-0237-01A-02D-1491-08		105174270	2175270	34	3013											
ZWILCH	55055	broad.mit.edu	37	chr15	66806421	66806421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattcatagtggaaaaagtGgtaagtactggtttgacttt	12	15	11	3	0	1	1	1	1	0	0	1	2	1	2	0	3	1	4	0	3	6	7			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr15:66806421G>A	uc002aqb.3	+	3	447	c.201_splice	c.e3+1	p.V67_splice	RPL4_uc002apx.3_Intron|ZWILCH_uc010bhu.1_Intron|ZWILCH_uc002aqa.3_Splice_Site|ZWILCH_uc010bhv.3_Splice_Site	NM_017975	NP_060445	Q9H900	ZWILC_HUMAN	Homo sapiens Zwilch, kinetochore associated, homolog (Drosophila) (ZWILCH), transcript variant 1, mRNA.	67					cell division|mitotic cell cycle checkpoint|mitotic prometaphase	condensed chromosome kinetochore|cytosol	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(1)|lung(6)|ovary(1)	18						TGGAAAAAGTGGTAAGTACTG	0.358													A	66806421	G	A	66806421	2	1	48	1	0	0	0	0	0	0	0	1	18345	1362	47	2		2	ZWILCH	15	66806421	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		66806421	35724971	35	3014											
YPEL3	83719	broad.mit.edu	37	chr16	30106203	30106203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccgctcctcggctggcccGcagcccacgttcaccctgtg	4	7	10	20	4	1	0	1	0	0	0	3	0	2	0	5	2	1	4	5	2	0	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:30106203G>A	uc002dwl.3	-	2	1009	c.291C>T	c.(289-291)tgC>tgT	p.C97C	BOLA2_uc010bzb.1_Intron|TBX6_uc010veh.2_5'Flank|TBX6_uc002dwk.1_5'Flank|YPEL3_uc002dwm.3_Silent_p.C59C|YPEL3_uc002dwn.1_Silent_p.C97C|AK097453_uc002dwo.2_5'Flank	NM_031477	NP_001138996	P61236	YPEL3_HUMAN	Homo sapiens yippee-like 3 (Drosophila) (YPEL3), transcript variant 1, mRNA.	59						nucleolus				endometrium(1)|lung(2)	3						CGGCTGGCCCGCAGCCCACGT	0.632													A	30106203	G	A	30106203	2	1	48	1	0	0	0	0	0	0	0	1	17593	1079	38	1		1	YPEL3	16	30106203	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		30106203	60248550	36	3015											
GPR114	221188	broad.mit.edu	37	chr16	57597817	57597817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccccgccgagctgaccCgggacgcctgcaagacccgc	7	4	12	18	5	0	2	0	1	0	1	1	4	1	3	6	1	2	3	6	1	1	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr16:57597817C>T	uc002ely.3	+	4	878	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	GPR114_uc002elx.4_Missense_Mutation_p.R119W|GPR114_uc010vhr.2_Missense_Mutation_p.R119W	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						CGAGCTGACCCGGGACGCCTG	0.632													T	57597817	C	T	57597817	3	4	48	1	0	0	0	0	1	0	0	0	6685	643	23	1	369	1	GPR114	16	57597817	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	27491614	57597817	32756936	37	3016											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:7578265A>G	uc002gim.2	-	5	778	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_uc002gig.1_Missense_Mutation_p.I195T|TP53_uc002gih.3_Missense_Mutation_p.I195T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63T|TP53_uc010cnf.1_Missense_Mutation_p.I63T|TP53_uc002gii.1_Missense_Mutation_p.I63T|TP53_uc010cni.1_Missense_Mutation_p.I195T|TP53_uc010cnh.1_Missense_Mutation_p.I195T|TP53_uc002gij.2_Missense_Mutation_p.I195T|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102T|TP53_uc002gio.2_Missense_Mutation_p.I63T|TP53_uc010vug.2_Missense_Mutation_p.I156T|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			G	7578265	A	G	7578265	3	3	48	1	0	0	0	0	1	0	0	0	16482	333	12	3	710	3	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08		7578265	73616945	38	3017											
LIG3	3980	broad.mit.edu	37	chr17	33323604	33323604	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccttacagaaagcagccttCcaggatgctaatgtctgcct	10	10	8	13	0	1	1	0	0	1	1	2	2	2	2	4	1	5	2	4	1	3	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:33323604C>T	uc002hik.2	+	10	1884	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	LIG3_uc002hij.3_Silent_p.F585F	NM_013975	NP_039269	P49916	DNLI3_HUMAN	Homo sapiens ligase III, DNA, ATP-dependent (LIG3), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	585					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	AAGCAGCCTTCCAGGATGCTA	0.428								Other BER factors					T	33323604	C	T	33323604	2	4	48	1	0	0	0	0	0	0	0	1	8842	854	30	2		2	LIG3	17	33323604	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	25745339	33323604	47871606	39	3018											
XYLT2	64132	broad.mit.edu	37	chr17	48437602	48437602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggagctctctgtcccccGaccccaaatcagagctgggg	7	7	12	15	1	2	1	1	0	1	1	4	3	3	2	4	3	2	3	4	3	1	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:48437602G>A	uc002iqo.3	+	10	2657	c.2548G>A	c.(2548-2550)Gac>Aac	p.D850N	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	850					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					TCTGTCCCCCGACCCCAAATC	0.647													A	48437602	G	A	48437602	3	1	48	1	0	0	0	0	1	0	0	0	17566	1058	37	1	2590	1	XYLT2	17	48437602	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	15113998	48437602	32757608	40	3019											
NOL11	25926	broad.mit.edu	37	chr17	65733682	65733682	+	Frame_Shift_Del	DEL	C	C	-																															atttttggctctgaagcagaCacctgactttcatactgtca																										TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr17:65733682delC	uc002jgd.1	+	11	1280	c.1277delC	c.(1276-1278)acafs	p.T426fs	NOL11_uc010wql.1_Frame_Shift_Del_p.T244fs|NOL11_uc010deu.1_Frame_Shift_Del_p.T21fs	NM_015462	NP_056277	Q9H8H0	NOL11_HUMAN	Homo sapiens nucleolar protein 11 (NOL11), mRNA.	426						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTGAAGCAGACACCTGACTTT	0.408													-	65733682	C	-	65733682	7	5	48	1	0	1	0	1	0	0	0	0	10597	478	17	0	1323	0	NOL11	17	65733682	Frame_Shift_Del	DEL	C	TCGA-06-0237-01A-02D-1491-08	17296080	65733682	15461528	41	3020											
CTAGE1	64693	broad.mit.edu	37	chr18	19997860	19997860	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttagccctaggctcctccGtagcgccaaggctgctctgg	5	9	13	14	2	1	0	0	0	1	0	3	0	3	0	4	4	3	5	4	4	4	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:19997860G>A	uc002ktv.1	-	0						NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587													A	19997860	G	A	19997860	1	1	48	1	0	0	0	0	0	0	0	0	4025	1160	40	1		1	CTAGE1	18	19997860	Translation_Start_Site	SNP	G	TCGA-06-0237-01A-02D-1491-08		19997860	58079388	42	3021											
DCC	1630	broad.mit.edu	37	chr18	50734089	50734089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttataaactggaaggccTgaaaaaattcaccgaatata	18	10	6	7	1	2	1	1	1	1	0	2	3	2	2	2	2	1	0	2	2	10	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:50734089T>C	uc002lfe.2	+	10	2379	c.1763T>C	c.(1762-1764)cTg>cCg	p.L588P	DCC_uc010xdr.1_Missense_Mutation_p.L436P|DCC_uc010dpf.2_Missense_Mutation_p.L243P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	588	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTGGAAGGCCTGAAAAAATTC	0.383													C	50734089	T	C	50734089	3	2	48	1	0	0	0	0	1	0	0	0	4316	1580	55	3	1805	3	DCC	18	50734089	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	30736229	50734089	27343159	43	3022											
SALL3	27164	broad.mit.edu	37	chr18	76753975	76753975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcaaacgtcggaaaccTcgaagctgcagcagctggtg	11	6	13	11	4	0	0	0	0	0	0	2	3	0	1	1	2	7	5	1	2	3	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr18:76753975T>G	uc002lmt.3	+	1	1984	c.1984T>G	c.(1984-1986)Tcg>Gcg	p.S662A	SALL3_uc010dra.3_Missense_Mutation_p.S269A	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	662					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGAAACCTCGAAGCTGCA	0.637													G	76753975	T	G	76753975	3	3	48	1	0	0	0	0	1	0	0	0	13903	1551	54	5	1990	5	SALL3	18	76753975	Missense_Mutation	SNP	T	TCGA-06-0237-01A-02D-1491-08	26019886	76753975	1323273	44	3023											
CCDC94	55702	broad.mit.edu	37	chr19	4268683	4268683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacagtgacgacagcaacgGcagcaactgagccctcccag	12	3	12	14	2	0	2	0	2	0	0	1	4	1	3	2	2	5	3	2	2	2	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:4268683G>A	uc002lzv.4	+	7	995	c.962G>A	c.(961-963)gGc>gAc	p.G321D		NM_018074	NP_060544	Q9BW85	CCD94_HUMAN	Homo sapiens coiled-coil domain containing 94 (CCDC94), mRNA.	321										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		GACAGCAACGGCAGCAACTGA	0.642													A	4268683	G	A	4268683	3	1	48	1	0	0	0	0	1	0	0	0	2901	1203	42	2	992	2	CCDC94	19	4268683	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		4268683	54860300	45	3024											
CYP4F2	8529	broad.mit.edu	37	chr19	15989717	15989717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaccaccttcatctccGccatcgcgaacgtctgcccg	7	7	8	19	5	3	0	1	0	2	0	5	2	3	1	6	1	2	0	6	1	1	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:15989717G>A	uc002nbs.1	-	12	1477	c.1427C>T	c.(1426-1428)gCg>gTg	p.A476V	CYP4F2_uc010xot.1_Missense_Mutation_p.A327V	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	476					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.A476V(2)|p.A476A(1)|p.M475K(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTCATCTCCGCCATCGCGAA	0.672													A	15989717	G	A	15989717	3	1	48	1	0	0	0	0	1	0	0	0	4221	1087	38	1	139	1	CYP4F2	19	15989717	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	11721034	15989717	43139266	46	3025											
FFAR3	2865	broad.mit.edu	37	chr19	35850542	35850542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccatgtcgtgggctatatCtgcggtgaaagcccggcgtg	6	10	14	11	4	1	1	0	1	1	0	3	1	2	1	2	3	2	1	2	3	3	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:35850542C>T	uc002nzd.3	+	1	825	c.750C>T	c.(748-750)atC>atT	p.I250I	FFAR3_uc021usm.1_Silent_p.I250I	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	250						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TGGGCTATATCTGCGGTGAAA	0.612													T	35850542	C	T	35850542	2	4	48	1	0	0	0	0	0	0	0	1	5878	903	32	2		2	FFAR3	19	35850542	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	19860825	35850542	23278441	47	3026											
CYP2B6	1555	broad.mit.edu	37	chr19	41515926	41515926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgcacacagtgaattcAgccaccagaacctcaacctc	14	5	5	17	1	2	2	2	1	0	1	3	2	2	2	5	0	4	1	5	0	4	1			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr19:41515926A>T	uc002opr.1	+	5	857	c.850A>T	c.(850-852)Agc>Tgc	p.S284C	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	284					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAGTGAATTCAGCCACCAGAA	0.562													T	41515926	A	T	41515926	3	4	48	1	0	0	0	0	1	0	0	0	4197	188	7	5	872	5	CYP2B6	19	41515926	Missense_Mutation	SNP	A	TCGA-06-0237-01A-02D-1491-08	5665384	41515926	17613057	48	3027											
SLC17A9	63910	broad.mit.edu	37	chr20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttggcctctccagcGtctttgctctgtgcctgggc	1	13	13	14	1	3	0	0	0	3	0	4	0	3	0	4	3	3	1	4	3	0	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:61596986G>A	uc002yea.4	+	9	1154	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	324					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.V324I(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652													A	61596986	G	A	61596986	3	1	48	1	0	0	0	0	1	0	0	0	14518	1145	40	1	1008	1	SLC17A9	20	61596986	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		61596986	1428534	49	3028											
EEF1A2	1917	broad.mit.edu	37	chr20	62122078	62122078	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccggcccacgggcacCgtgccaatgcctgcagaggg	7	4	13	17	3	0	1	0	0	0	1	1	1	1	1	6	3	3	2	6	3	1	0			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr20:62122078C>T	uc002yfe.1	-	5	949	c.783G>A	c.(781-783)acG>acA	p.T261T		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	261						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			CCACGGGCACCGTGCCAATGC	0.647													T	62122078	C	T	62122078	2	4	48	1	0	0	0	0	0	0	0	1	4963	639	23	1		1	EEF1A2	20	62122078	Silent	SNP	C	TCGA-06-0237-01A-02D-1491-08	525092	62122078	903442	50	3029											
DSCR6	53820	broad.mit.edu	37	chr21	38380466	38380466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgttccagccccgcgccGtggcgaccttggatccagac	5	7	12	17	5	0	1	0	0	0	1	2	3	2	2	7	2	2	1	7	2	0	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:38380466G>A	uc002yvv.3	+	1	324	c.114G>A	c.(112-114)ccG>ccA	p.P38P	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	38						nucleus		p.P38>?(1)		NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				GCCCCGCGCCGTGGCGACCTT	0.577													A	38380466	G	A	38380466	2	1	48	1	0	0	0	0	0	0	0	1	4812	1132	40	1		1	DSCR6	21	38380466	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08		38380466	9749429	51	3030											
SIK1	150094	broad.mit.edu	37	chr21	44841555	44841555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgttgccatccagcaggagGttctcggtcttgaggtcccg	6	11	13	11	2	2	1	0	1	2	0	5	2	4	2	3	4	2	3	3	4	0	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chr21:44841555G>T	uc002zdf.2	-	4	589	c.462C>A	c.(460-462)aaC>aaA	p.N154K		NM_173354	NP_775490	P57059	SIK1_HUMAN	Homo sapiens salt-inducible kinase 1 (SIK1), mRNA.	154	Protein kinase.				anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity	p.E153K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						CCAGCAGGAGGTTCTCGGTCT	0.617													T	44841555	G	T	44841555	3	4	48	1	0	0	0	0	1	0	0	0	14411	1252	44	4	1929	4	SIK1	21	44841555	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	6461089	44841555	3288340	52	3031											
DCAF8L2	347442	broad.mit.edu	37	chrX	27766165	27766165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atacctaccaatttgcagtgGgtggacaagatcagtttgta	12	12	10	7	0	1	1	1	0	0	1	1	2	1	2	2	2	3	3	2	2	5	5			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:27766165G>T	uc011mjy.2	+	0	1240	c.1153G>T	c.(1153-1155)Ggt>Tgt	p.G385C		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.									p.V384F(1)		central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						ATTTGCAGTGGGTGGACAAGA	0.398													T	27766165	G	T	27766165	3	4	48	1	0	0	0	0	1	0	0	0	4312	1232	43	4	1155	4	DCAF8L2	23	27766165	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08		27766165	127504395	53	3032											
SYTL5	94122	broad.mit.edu	37	chrX	37931389	37931389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcggcactgatgttgtccGacagtccattttaagaagaa	11	12	9	9	2	1	3	0	1	1	2	4	4	3	3	2	1	0	2	2	1	3	3	rs151098113	byFrequency	TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:37931389G>A	uc004ddx.3	+	2	775	c.419G>A	c.(418-420)cGa>cAa	p.R140Q	SYTL5_uc004ddu.3_Missense_Mutation_p.R140Q|SYTL5_uc004ddv.3_Missense_Mutation_p.R140Q	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	140					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						GATGTTGTCCGACAGTCCATT	0.378													A	37931389	G	A	37931389	3	1	48	1	0	0	0	0	1	0	0	0	15583	1058	37	1	429	1	SYTL5	23	37931389	Missense_Mutation	SNP	G	TCGA-06-0237-01A-02D-1491-08	10165224	37931389	117339171	54	3033											
MAOA	4128	broad.mit.edu	37	chrX	43571152	43571152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catttcggggcgcctttccaCcagtatggaatcccattgca	8	11	9	13	2	0	0	0	0	0	0	3	1	2	1	4	3	1	2	4	3	2	4			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:43571152C>A	uc004dfy.3	+	3	521	c.340C>A	c.(340-342)Cca>Aca	p.P114T	MAOA_uc011mkw.2_5'UTR	NM_000240	NP_000231	P21397	AOFA_HUMAN	Homo sapiens monoamine oxidase A (MAOA), nuclear gene encoding mitochondrial protein, mRNA.	114					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	CGCCTTTCCACCAGTATGGAA	0.368													A	43571152	C	A	43571152	3	1	48	1	0	0	0	0	1	0	0	0	9300	507	18	4	354	4	MAOA	23	43571152	Missense_Mutation	SNP	C	TCGA-06-0237-01A-02D-1491-08	5639763	43571152	111699408	55	3034											
SLC38A5	92745	broad.mit.edu	37	chrX	48317931	48317931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgcttacctggatcttGggccaggataagaaaggctc	11	9	13	8	0	1	1	0	0	1	1	2	4	1	4	2	5	2	2	2	5	4	3			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:48317931G>A	uc010nid.3	-	15	1486	c.1308C>T	c.(1306-1308)ccC>ccT	p.P436P	SLC38A5_uc004djk.4_Silent_p.P385P	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	436					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						CCTGGATCTTGGGCCAGGATA	0.582													A	48317931	G	A	48317931	2	1	48	1	0	0	0	0	0	0	0	1	14701	1335	47	2		2	SLC38A5	23	48317931	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	4746779	48317931	106952629	56	3035											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177186	89177186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagacacctcaatcatgtcGagaaataacgcagatacagg	17	6	8	10	2	2	3	2	0	0	3	3	4	2	3	1	1	2	1	1	1	5	2			TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:89177186G>A	uc022bzr.1	+	0	102	c.102G>A	c.(100-102)tcG>tcA	p.S34S	TGIF2LX_uc004efe.3_Silent_p.S34S	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	34						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CAATCATGTCGAGAAATAACG	0.577													A	89177186	G	A	89177186	2	1	48	1	0	0	0	0	0	0	0	1	15927	1045	37	1		1	TGIF2LX	23	89177186	Silent	SNP	G	TCGA-06-0237-01A-02D-1491-08	40859255	89177186	66093374	57	3036											
MAMLD1	10046	broad.mit.edu	37	chrX	149639325	149639327	+	In_Frame_Del	DEL	CAG	CAG	-																															gtaatcttctaagccagcaaCagcagcagcagcagcagcag																										TCGA-06-0237-01A-02D-1491-08	TCGA-06-0237-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a50b5271-484a-436e-ac6f-6074071015fd	604eef51-a3a7-405a-aff9-1db235384819	g.chrX:149639325_149639327delCAG	uc011mxu.2	+	2	1715_1717	c.1405_1407delCAG	c.(1405-1407)cagdel	p.Q477del	MAMLD1_uc011mxt.1_In_Frame_Del_p.Q464del|MAMLD1_uc004fee.2_In_Frame_Del_p.Q502del|MAMLD1_uc011mxv.2_In_Frame_Del_p.Q477del|MAMLD1_uc011mxw.2_In_Frame_Del_p.Q429del	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	502					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCcagcaacagcagcagcagc	0.532													-	149639327	CAG	-	149639325	7	5	48	1	0	1	0	1	0	0	0	0	9283	479	17	0	1490	0	MAMLD1	23	149639325	In_Frame_Del	DEL	CAG	TCGA-06-0237-01A-02D-1491-08	60462139	149639325	5631235	58	3037											
ACAP3	116983	broad.mit.edu	37	chr1	1229020	1229020	+	Frame_Shift_Del	DEL	A	A	-																															gctccgtggggctgcccgccAgggcgcccgggggaccaggg																										TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:1229020delA	uc001aeb.2	-	23	2503	c.2429delT	c.(2428-2430)ctgfs	p.L810fs	ACAP3_uc001ady.2_Frame_Shift_Del_p.L540fs|ACAP3_uc001aea.2_Frame_Shift_Del_p.L735fs	NM_030649	NP_085152	Q96P50	ACAP3_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 (ACAP3), mRNA.	810					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GCTGCCCGCCAGGGCGCCCGG	0.721													-	1229020	A	-	1229020	7	5	49	1	0	1	0	1	0	0	0	0	120	188	7	0	79	0	ACAP3	1	1229020	Frame_Shift_Del	DEL	A	TCGA-06-0238-01A-02D-1492-08		1229020	248021601	1	3038											
KPRP	448834	broad.mit.edu	37	chr1	152732806	152732806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttcactgaacagcacCgctctcggagcaccagcaga	11	5	11	14	2	2	2	1	1	1	1	3	4	2	4	2	2	5	5	2	2	1	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:152732806C>T	uc001fal.1	+	1	800	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	KPRP_uc021ozf.1_Missense_Mutation_p.R248C	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	248						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAACAGCACCGCTCTCGGAG	0.612													T	152732806	C	T	152732806	3	4	49	1	0	0	0	0	1	0	0	0	8494	652	23	1	744	1	KPRP	1	152732806	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	151503786	152732806	96517815	2	3039											
OR10Z1	128368	broad.mit.edu	37	chr1	158577000	158577000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatggctgtgcttccttcGtgtacctgaggcccaaagcc	7	12	10	12	1	0	1	0	1	0	0	2	1	1	1	4	2	3	3	4	2	3	4			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158577000G>A	uc010pio.2	+	0	772	c.772G>A	c.(772-774)Gtg>Atg	p.V258M		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TGCTTCCTTCGTGTACCTGAG	0.493													A	158577000	G	A	158577000	3	1	49	1	0	0	0	0	1	0	0	0	10999	1145	40	1	774	1	OR10Z1	1	158577000	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	5844194	158577000	90673621	3	3040											
SPTA1	6708	broad.mit.edu	37	chr1	158650498	158650498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcccagtcttcacctagctCcactgatgtcgctatagcct	7	12	6	16	1	2	1	1	1	1	0	5	1	4	1	4	0	2	2	4	0	3	4			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:158650498C>G	uc001fst.1	-	4	752	c.553G>C	c.(553-555)Gag>Cag	p.E185Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	185					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCACCTAGCTCCACTGATGTC	0.448													G	158650498	C	G	158650498	3	3	49	1	0	0	0	0	1	0	0	0	15212	864	30	4	6898	4	SPTA1	1	158650498	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	73498	158650498	90600123	4	3041											
ZNF496	84838	broad.mit.edu	37	chr1	247464286	247464286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccgagcactcgtgcggCttctcctgctccctgcggct	4	9	10	18	4	1	0	0	0	1	0	4	1	2	0	3	2	4	4	3	2	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:247464286C>T	uc009xgv.3	-	7	1444	c.1407G>A	c.(1405-1407)aaG>aaA	p.K469K	ZNF496_uc001ico.3_Silent_p.K433K	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	433					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTCGTGCGGCTTCTCCTGCT	0.617													T	247464286	C	T	247464286	2	4	49	1	0	0	0	0	0	0	0	1	18046	796	28	2		2	ZNF496	1	247464286	Silent	SNP	C	TCGA-06-0238-01A-02D-1492-08	88813788	247464286	1786335	5	3042											
OR2T34	127068	broad.mit.edu	37	chr1	248737752	248737752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagaacatctggatccCacagcctgacggggaaatgg	12	6	14	9	1	1	2	0	1	1	1	2	5	2	5	2	5	2	0	2	5	3	0			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr1:248737752C>A	uc001iep.1	-	0	307	c.307G>T	c.(307-309)Ggg>Tgg	p.G103W		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G103G(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCTGGATCCCACAGCCTGAC	0.562													A	248737752	C	A	248737752	3	1	49	1	0	0	0	0	1	0	0	0	11101	594	21	4	653	4	OR2T34	1	248737752	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	1273466	248737752	512869	6	3043											
TEKT4	150483	broad.mit.edu	37	chr2	95537569	95537569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccaggcgctggcgcagcGcacgcagcaagactccacgc	9	2	13	17	5	0	1	0	0	0	1	1	2	1	1	2	2	2	5	2	2	1	0	rs66467545		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:95537569G>A	uc002stw.1	+	0	338	c.245G>A	c.(244-246)cGc>cAc	p.R82H	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	82					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CTGGCGCAGCGCACGCAGCAA	0.692													A	95537569	G	A	95537569	3	1	49	1	0	0	0	0	1	0	0	0	15855	1087	38	1	247	1	TEKT4	2	95537569	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		95537569	147661804	7	3044											
IWS1	55677	broad.mit.edu	37	chr2	128238721	128238721	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcatctgtttatccagtcGactgatacccttcttggagg	7	15	8	11	1	3	1	1	1	3	0	6	3	4	2	2	2	1	1	2	2	2	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr2:128238721G>A	uc002ton.2	-	13	2662	c.2359C>T	c.(2359-2361)Cga>Tga	p.R787*		NM_017969	NP_060439	Q96ST2	IWS1_HUMAN	Homo sapiens IWS1 homolog (S. cerevisiae) (IWS1), mRNA.	787					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		TTATCCAGTCGACTGATACCC	0.388													A	128238721	G	A	128238721	4	1	49	1	0	0	0	0	0	1	0	0	7989	1066	37	1	104	1	IWS1	2	128238721	Nonsense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	32701152	128238721	114960652	8	3045											
PCDH7	5099	broad.mit.edu	37	chr4	30725870	30725870	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggacaagaaaaacaaaaaAtctaagcagcctctctacag	21	5	6	9	0	2	1	0	0	2	1	3	2	2	2	1	1	4	1	1	1	9	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr4:30725870A>G	uc003gsk.1	+	0	3834	c.2826A>G	c.(2824-2826)aaA>aaG	p.K942K	PCDH7_uc011bxx.2_Silent_p.K942K|PCDH7_uc021xnd.1_Silent_p.K942K|PCDH7_uc021xnc.1_Silent_p.K942K	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	942					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AAAACAAAAAATCTAAGCAGC	0.413													G	30725870	A	G	30725870	2	3	49	1	0	0	0	0	0	0	0	1	11592	98	4	3		3	PCDH7	4	30725870	Silent	SNP	A	TCGA-06-0238-01A-02D-1492-08		30725870	160428406	9	3046											
PTCD2	79810	broad.mit.edu	37	chr5	71627105	71627105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaccatgcagagaacaaaaAtttcactttgggggagtata	15	10	10	6	0	1	1	1	0	0	1	1	3	1	2	1	2	3	3	1	2	6	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:71627105A>G	uc003kcb.3	+	3	381	c.371A>G	c.(370-372)aAt>aGt	p.N124S	PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_Intron|PTCD2_uc011csh.2_Intron|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	124										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GAGAACAAAAATTTCACTTTG	0.438													G	71627105	A	G	71627105	3	3	49	1	0	0	0	0	1	0	0	0	12813	101	4	3	385	3	PTCD2	5	71627105	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		71627105	109288155	10	3047											
SV2C	22987	broad.mit.edu	37	chr5	75428120	75428120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacccagtgctgagacagAcctctgcatcccaaattcag	11	9	8	13	0	2	2	1	1	1	2	3	3	3	2	3	0	3	3	3	0	2	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:75428120A>G	uc003kei.1	+	1	679	c.545A>G	c.(544-546)gAc>gGc	p.D182G		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	182					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GCTGAGACAGACCTCTGCATC	0.502													G	75428120	A	G	75428120	3	3	49	1	0	0	0	0	1	0	0	0	15515	275	10	3	547	3	SV2C	5	75428120	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	3801015	75428120	105487140	11	3048											
UQCRQ	27089	broad.mit.edu	37	chr5	132202700	132202701	+	Frame_Shift_Ins	INS	-	-	G																															caatgttctgcgccgcattcINSgggagtctttctttcgcgtg																										TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:132202700_132202701insG	uc003kya.1	+	1	201_202	c.127_128insG	c.(127-129)cggfs	p.R43fs	GDF9_uc003kxz.1_5'Flank|GDF9_uc011cxj.1_5'Flank	NM_014402	NP_055217	O14949	QCR8_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa (UQCRQ), nuclear gene encoding mitochondrial protein, mRNA.	43					respiratory electron transport chain	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			lung(3)	3		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCGCCGCATTCGGGAGTCTTTC	0.634													G	132202701	-	G	132202700	7	5	49	1	0	1	1	0	0	0	0	0	17126	875	31	0	129	0	UQCRQ	5	132202700	Frame_Shift_Ins	INS	-	TCGA-06-0238-01A-02D-1492-08	56774580	132202700	48712560	12	3049											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167621	140167621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcagtgagctggtgccGcgattggtgggtgcgggtca	5	9	19	8	3	2	1	2	1	0	0	2	2	2	1	1	4	3	2	1	4	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140167621G>A	uc003lhb.2	+	0	1746	c.1746G>A	c.(1744-1746)ccG>ccA	p.P582P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.P582P	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	595					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCTGGTGCCGCGATTGGTGG	0.657													A	140167621	G	A	140167621	2	1	49	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140167621	Silent	SNP	G	TCGA-06-0238-01A-02D-1492-08	7964921	140167621	40747639	13	3050											
PCDHGC5	56113	broad.mit.edu	37	chr5	140720885	140720885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggacacgctcatcagccagGagagctgtgagaaaaaggat	14	5	13	9	2	2	2	2	1	0	2	2	6	2	4	1	3	2	2	1	3	2	0			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:140720885G>A	uc003ljk.2	+	0	2532	c.2347G>A	c.(2347-2349)Gag>Aag	p.E783K	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.E783K|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	793					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCAGCCAGGAGAGCTGTGA	0.488													A	140720885	G	A	140720885	3	1	49	1	0	0	0	0	1	0	0	0	11647	1175	41	2		2	PCDHGC5	5	140720885	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	553264	140720885	40194375	14	3051											
ODZ2	57451	broad.mit.edu	37	chr5	167627098	167627098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgggacaagacagatgCgtatggccaaagggtgtatg	12	8	14	7	1	1	2	0	0	1	2	1	3	1	3	1	3	1	2	1	3	4	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr5:167627098C>G	uc010jjd.3	+	16	3365	c.3365C>G	c.(3364-3366)gCg>gGg	p.A1122G	ODZ2_uc003lzr.4_Missense_Mutation_p.A899G|ODZ2_uc003lzt.4_Missense_Mutation_p.A495G|ODZ2_uc010jje.3_Missense_Mutation_p.A393G	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		AAGACAGATGCGTATGGCCAA	0.478													G	167627098	C	G	167627098	3	3	49	1	0	0	0	0	1	0	0	0	10911	768	27	4	3431	4	ODZ2	5	167627098	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	26906213	167627098	13288162	15	3052											
DAXX	1616	broad.mit.edu	37	chr6	33287338	33287338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgcttcctggaagaggAaatgtccgtctccacagagg	10	10	12	9	1	1	3	0	1	1	2	4	5	3	5	3	3	1	1	3	3	2	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr6:33287338A>G	uc003oec.3	-	5	1963	c.1759T>C	c.(1759-1761)Tcc>Ccc	p.S587P	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Missense_Mutation_p.S587P|DAXX_uc021ywo.1_Missense_Mutation_p.S587P|DAXX_uc011dre.2_Missense_Mutation_p.S599P|DAXX_uc003oed.3_Missense_Mutation_p.S587P|DAXX_uc011drd.2_Missense_Mutation_p.S512P	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	587	Interaction with MAP3K5.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						CTGGAAGAGGAAATGTCCGTC	0.527			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								G	33287338	A	G	33287338	3	3	49	1	0	0	0	0	1	0	0	0	4277	246	9	3	475	3	DAXX	6	33287338	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		33287338	137827729	16	3053											
TFPI2	7980	broad.mit.edu	37	chr7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaccttttgcacatgcacGtttgcaatcctccctgctaa	9	13	5	14	1	0	0	0	0	0	0	2	0	2	0	3	0	5	5	3	0	3	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:93516588G>A	uc003umy.1	-	3	691	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	206	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323													A	93516588	G	A	93516588	3	1	49	1	0	0	0	0	1	0	0	0	15909	1145	40	1	99	1	TFPI2	7	93516588	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		93516588	65622075	17	3054											
ASZ1	136991	broad.mit.edu	37	chr7	117024817	117024817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcaatctcacttggcAtctttccatctttggtttgt	5	21	6	9	0	3	0	1	0	3	0	5	0	4	0	1	2	1	3	1	2	1	6			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:117024817A>G	uc003vjb.2	-	5	713	c.650T>C	c.(649-651)aTg>aCg	p.M217T	ASZ1_uc011kno.1_Missense_Mutation_p.M217T|ASZ1_uc011knp.1_Missense_Mutation_p.M9T	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	217					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CTCACTTGGCATCTTTCCATC	0.353													G	117024817	A	G	117024817	3	3	49	1	0	0	0	0	1	0	0	0	1074	217	8	3	809	3	ASZ1	7	117024817	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	23508229	117024817	42113846	18	3055											
KEL	3792	broad.mit.edu	37	chr7	142658531	142658531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatagctgtcagcacccGcctggccactgcccatggcc	7	6	11	17	1	1	0	1	0	0	0	1	1	1	1	5	3	3	2	5	3	1	1	rs150577967		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:142658531G>A	uc003wcb.3	-	2	349	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	47					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCAGCACCCGCCTGGCCACT	0.547													A	142658531	G	A	142658531	3	1	49	1	0	0	0	0	1	0	0	0	8200	1086	38	1	2127	1	KEL	7	142658531	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	25633714	142658531	16480132	19	3056											
MLL3	58508	broad.mit.edu	37	chr7	151927093	151927093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctccttggccaaaactgCcacaaactacacacatatcc	13	8	4	16	0	0	0	0	0	0	0	2	0	2	0	4	1	5	1	4	1	5	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr7:151927093C>A	uc003wla.3	-	17	3110	c.2891G>T	c.(2890-2892)gGc>gTc	p.G964V	MLL3_uc003wkz.3_Missense_Mutation_p.G25V	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	964					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GCCAAAACTGCCACAAACTAC	0.348			N		medulloblastoma								A	151927093	C	A	151927093	3	1	49	1	0	0	0	0	1	0	0	0	9697	739	26	4	12012	4	MLL3	7	151927093	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	9268562	151927093	7211570	20	3057											
TLE4	7091	broad.mit.edu	37	chr9	82324566	82324566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccacaccatcacatgcGtgtgccagcaatacctccaa	12	8	6	15	1	1	1	1	1	0	0	3	1	3	1	5	0	4	1	5	0	3	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:82324566G>A	uc004ald.3	+	14	2216	c.1367G>A	c.(1366-1368)cGt>cAt	p.R456H	TLE4_uc004alc.3_Missense_Mutation_p.R431H|TLE4_uc010mpr.3_Missense_Mutation_p.R310H|TLE4_uc004ale.3_Missense_Mutation_p.R68H|TLE4_uc011lsq.2_Missense_Mutation_p.R399H|TLE4_uc010mps.3_Missense_Mutation_p.R355H|TLE4_uc004alf.3_Missense_Mutation_p.R370H	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CATCACATGCGTGTGCCAGCA	0.438													A	82324566	G	A	82324566	3	1	49	1	0	0	0	0	1	0	0	0	16041	1145	40	1	1346	1	TLE4	9	82324566	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		82324566	58888865	21	3058											
ZNF618	114991	broad.mit.edu	37	chr9	116779034	116779034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtactacactccctacCaggagcatgtggccttacac	12	8	7	14	0	0	0	0	0	0	0	1	1	1	1	3	2	5	2	3	2	5	4			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr9:116779034C>A	uc004bid.3	+	9	913	c.814C>A	c.(814-816)Cag>Aag	p.Q272K	ZNF618_uc004bib.1_Missense_Mutation_p.Q240K|ZNF618_uc004bic.3_Missense_Mutation_p.Q260K|ZNF618_uc011lxi.2_Missense_Mutation_p.Q240K|ZNF618_uc011lxj.2_Missense_Mutation_p.Q240K	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CACTCCCTACCAGGAGCATGT	0.572													A	116779034	C	A	116779034	3	1	49	1	0	0	0	0	1	0	0	0	18143	595	21	4	816	4	ZNF618	9	116779034	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	34454468	116779034	24434397	22	3059											
OR5P2	120065	broad.mit.edu	37	chr11	7818165	7818165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcagccagaaggaCgcattcgactgttgcaaaga	12	6	13	10	2	0	2	0	0	0	2	1	4	0	3	2	3	2	4	2	3	2	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:7818165C>T	uc001mfp.1	-	0	325	c.325G>A	c.(325-327)Gtc>Atc	p.V109I		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V109I(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GCCAGAAGGACGCATTCGACT	0.483													T	7818165	C	T	7818165	3	4	49	1	0	0	0	0	1	0	0	0	11254	536	19	1	647	1	OR5P2	11	7818165	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08		7818165	127188351	23	3060											
TMEM41B	440026	broad.mit.edu	37	chr11	9305021	9305021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggctggcagaatagAaagaacagccaagatcatca	18	5	11	7	0	2	5	2	0	0	5	2	6	2	5	1	2	2	2	1	2	6	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:9305021A>G	uc001mhm.3	-	6	1153	c.826T>C	c.(826-828)Tct>Cct	p.S276P	TMEM41B_uc001mhn.2_Missense_Mutation_p.S276P	NM_015012	NP_055827	Q5BJD5	TM41B_HUMAN	Homo sapiens transmembrane protein 41B (TMEM41B), transcript variant 1, mRNA.	276						integral to membrane				kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(2)	7				all cancers(16;9.96e-08)|Epithelial(150;4.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0972)		GGCAGAATAGAAAGAACAGCC	0.358													G	9305021	A	G	9305021	3	3	49	1	0	0	0	0	1	0	0	0	16265	246	9	3	53	3	TMEM41B	11	9305021	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08	1486856	9305021	125701495	24	3061											
CASP1	834	broad.mit.edu	37	chr11	104900443	104900443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtttgtccttcaaacttgGgcagttcttggtattcaaca	8	15	9	9	1	3	0	2	0	1	0	4	0	4	0	1	3	2	4	1	3	3	7			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr11:104900443G>A	uc001pim.4	-	5	811	c.811C>T	c.(811-813)Cca>Tca	p.P271S	CASP1_uc001pig.3_Missense_Mutation_p.P178S|CASP1_uc021qpq.1_Missense_Mutation_p.P250S|CASP1_uc021qpr.1_Missense_Mutation_p.P178S|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Missense_Mutation_p.P271S|CASP1_uc021qpt.1_Missense_Mutation_p.P178S|CASP1_uc010rve.2_Missense_Mutation_p.P271S|CASP1_uc010rvf.2_Missense_Mutation_p.P178S|CASP1_uc010rvg.2_Missense_Mutation_p.P250S|CASP1_uc010rvh.2_Missense_Mutation_p.P178S|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Missense_Mutation_p.P250S|CASP1_uc021qpu.1_Missense_Mutation_p.P178S|CASP1_uc021qpv.1_Missense_Mutation_p.P250S|CASP1_uc021qpw.1_Missense_Mutation_p.P178S|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Missense_Mutation_p.P271S|CASP1_uc009yxj.3_Missense_Mutation_p.P116S|CASP1_uc010rvk.2_Missense_Mutation_p.P232S	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	271					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TTCAAACTTGGGCAGTTCTTG	0.448													A	104900443	G	A	104900443	3	1	49	1	0	0	0	0	1	0	0	0	2694	1232	43	2	419	2	CASP1	11	104900443	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	95595422	104900443	30106073	25	3062											
MARS	4141	broad.mit.edu	37	chr12	57910320	57910320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaacagttggctgtagctGaggggaaaccccctgaagcc	12	6	13	10	0	0	3	0	2	0	1	0	4	0	4	3	3	4	4	3	3	4	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57910320G>A	uc001sog.3	+	20	2813	c.2659G>A	c.(2659-2661)Gag>Aag	p.E887K	MARS_uc001sof.1_Non-coding_Transcript|MARS_uc001soh.1_3'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	887	WHEP-TRS.				methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGCTGTAGCTGAGGGGAAACC	0.433													A	57910320	G	A	57910320	3	1	49	1	0	0	0	0	1	0	0	0	9391	1291	45	2	2741	2	MARS	12	57910320	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		57910320	75941575	26	3063											
DDIT3	1649	broad.mit.edu	37	chr12	57911096	57911096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtacccccattttcatCtgaagacaggacctcttgca	11	11	7	12	0	3	2	1	1	2	1	3	3	3	3	3	2	2	2	3	2	3	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57911096C>A	uc009zpt.3	-	2	431	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	MARS_uc001sof.1_Non-coding_Transcript|DDIT3_uc001soi.3_Missense_Mutation_p.D32Y|DDIT3_uc021qzj.1_Missense_Mutation_p.D32Y|DDIT3_uc021qzk.1_Missense_Mutation_p.D55Y|DDIT3_uc021qzl.1_Missense_Mutation_p.D55Y|DDIT3_uc009zps.3_Missense_Mutation_p.D55Y	NM_001195053	NP_001181982	P35638	DDIT3_HUMAN	Homo sapiens DNA-damage-inducible transcript 3 (DDIT3), transcript variant 1, mRNA.	32					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding	p.D32Y(1)	EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						CCATTTTCATCTGAAGACAGG	0.493			T	FUS	liposarcoma								A	57911096	C	A	57911096	3	1	49	1	0	0	0	0	1	0	0	0	4364	913	32	4	423	4	DDIT3	12	57911096	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	776	57911096	75940799	27	3064											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994645	57994645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgctaggcatccacGacatcattcggggctctgaa	8	10	10	13	2	3	1	1	1	2	0	5	2	4	1	2	3	1	3	2	3	2	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994645G>T	uc001sou.3	+	7	996	c.865G>T	c.(865-867)Gac>Tac	p.D289Y	PIP4K2C_uc001sot.3_Missense_Mutation_p.D289Y|PIP4K2C_uc010srs.2_Missense_Mutation_p.D271Y|PIP4K2C_uc010srt.2_Missense_Mutation_p.D241Y	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	289	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGCATCCACGACATCATTCG	0.552													T	57994645	G	T	57994645	3	4	49	1	0	0	0	0	1	0	0	0	12015	1058	37	4	895	4	PIP4K2C	12	57994645	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	83549	57994645	75857250	28	3065											
PIP4K2C	79837	broad.mit.edu	37	chr12	57994848	57994848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttcattgatgtctatgccatCcggagtgctgaaggtgagag	9	12	13	7	1	2	3	1	3	1	1	3	5	3	4	2	2	2	1	2	2	2	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:57994848C>G	uc001sou.3	+	7	1199	c.1068C>G	c.(1066-1068)atC>atG	p.I356M	PIP4K2C_uc001sot.3_Missense_Mutation_p.I356M|PIP4K2C_uc010srs.2_Missense_Mutation_p.I338M|PIP4K2C_uc010srt.2_Missense_Mutation_p.I308M	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	356	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					TCTATGCCATCCGGAGTGCTG	0.562													G	57994848	C	G	57994848	3	3	49	1	0	0	0	0	1	0	0	0	12015	845	30	4	1098	4	PIP4K2C	12	57994848	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	203	57994848	75857047	29	3066											
TSPAN31	6302	broad.mit.edu	37	chr12	58140433	58140433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcgggatgaactggaaaGaagttttgattgttgtggct	10	13	14	4	1	0	3	0	2	0	1	1	6	0	5	0	3	1	3	0	3	3	4			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr12:58140433G>A	uc001spt.3	+	3	528	c.374G>A	c.(373-375)aGa>aAa	p.R125K	TSPAN31_uc009zqb.3_Intron|TSPAN31_uc010ssa.2_Missense_Mutation_p.R47K	NM_005981	NP_005972	Q12999	TSN31_HUMAN	Homo sapiens tetraspanin 31 (TSPAN31), mRNA.	125					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GAACTGGAAAGAAGTTTTGAT	0.448													A	58140433	G	A	58140433	3	1	49	1	0	0	0	0	1	0	0	0	16747	942	33	2	388	2	TSPAN31	12	58140433	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08	145585	58140433	75711462	30	3067											
TPTE2	93492	broad.mit.edu	37	chr13	20066995	20066995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatttataactcaccttttActgataggtgacaccagggc	11	13	8	9	0	1	2	1	2	0	0	1	2	1	2	2	2	2	1	2	2	5	7			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr13:20066995A>T	uc001umd.3	-	3	325	c.114T>A	c.(112-114)agT>agA	p.S38R	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.S38R|TPTE2_uc001ume.3_Missense_Mutation_p.S38R|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	38						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTCACCTTTTACTGATAGGTG	0.388													T	20066995	A	T	20066995	3	4	49	1	0	0	0	0	1	0	0	0	16532	388	14	5	1526	5	TPTE2	13	20066995	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		20066995	95102883	31	3068											
PCNX	22990	broad.mit.edu	37	chr14	71495452	71495452	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagcactttacagttttAtctgtagcattgttgcagta	9	17	8	7	0	1	0	0	0	1	0	1	0	1	0	0	0	5	8	0	0	4	9			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr14:71495452A>C	uc001xmo.2	+	15	3948	c.3502A>C	c.(3502-3504)Atc>Ctc	p.I1168L	PCNX_uc010are.1_Missense_Mutation_p.I1057L|PCNX_uc010arf.1_Missense_Mutation_p.I28L	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1168						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTACAGTTTTATCTGTAGCAT	0.313													C	71495452	A	C	71495452	3	2	49	1	0	0	0	0	1	0	0	0	11667	449	16	5	3564	5	PCNX	14	71495452	Missense_Mutation	SNP	A	TCGA-06-0238-01A-02D-1492-08		71495452	35854088	32	3069											
TJP1	7082	broad.mit.edu	37	chr15	30003151	30003151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtggcctggatgggttcaTagcgtttctcgccaaatgat	8	12	13	8	2	2	1	1	1	1	0	3	3	2	2	2	3	1	2	2	3	2	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:30003151T>C	uc001zcr.3	-	23	4731	c.4256A>G	c.(4255-4257)tAt>tGt	p.Y1419C	TJP1_uc010azl.3_Missense_Mutation_p.Y1407C|TJP1_uc001zcq.3_Missense_Mutation_p.Y1343C|TJP1_uc001zcs.3_Missense_Mutation_p.Y1339C	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1419					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GATGGGTTCATAGCGTTTCTC	0.512													C	30003151	T	C	30003151	3	2	49	1	0	0	0	0	1	0	0	0	16029	1406	49	3	1010	3	TJP1	15	30003151	Missense_Mutation	SNP	T	TCGA-06-0238-01A-02D-1492-08		30003151	72528241	33	3070											
ARNT2	9915	broad.mit.edu	37	chr15	80883952	80883952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaagggcggccctcGgaagtctggtcgcagtggca	7	7	15	12	3	1	0	0	0	1	0	4	1	2	1	2	5	0	3	2	5	2	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr15:80883952G>A	uc002bfr.3	+	17	2128	c.1962G>A	c.(1960-1962)tcG>tcA	p.S654S	ARNT2_uc010unm.2_Silent_p.S643S|ARNT2_uc002bfs.3_Silent_p.S643S	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	654					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GGCGGCCCTCGGAAGTCTGGT	0.567													A	80883952	G	A	80883952	2	1	49	1	0	0	0	0	0	0	0	1	971	1103	39	1		1	ARNT2	15	80883952	Silent	SNP	G	TCGA-06-0238-01A-02D-1492-08	50880801	80883952	21647440	34	3071											
RSL1D1	26156	broad.mit.edu	37	chr16	11931690	11931690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttgggccattttttggggGtgtgggaagcttttctcaca	5	17	13	6	0	1	0	1	0	1	0	2	1	1	1	1	4	1	1	1	4	1	7			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:11931690G>T	uc002dbp.1	-	8	1500	c.1427C>A	c.(1426-1428)aCc>aAc	p.T476N	RSL1D1_uc010buv.1_Missense_Mutation_p.T475N|RSL1D1_uc010uyw.1_Missense_Mutation_p.T256N	NM_015659	NP_056474	O76021	RL1D1_HUMAN	Homo sapiens ribosomal L1 domain containing 1 (RSL1D1), mRNA.	476					regulation of protein localization|translation	large ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	15						TTTTTTGGGGGTGTGGGAAGC	0.468													T	11931690	G	T	11931690	3	4	49	1	0	0	0	0	1	0	0	0	13791	1261	44	4	49	4	RSL1D1	16	11931690	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		11931690	78423063	35	3072											
SMG1	23049	broad.mit.edu	37	chr16	18875133	18875133	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatttataacctcaggggaAgagtcagtcggtttggacag	12	11	12	6	1	2	1	2	0	0	1	3	3	2	3	1	4	1	1	1	4	4	5			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr16:18875133A>T	uc002dfm.3	-	24	3897	c.3534T>A	c.(3532-3534)tcT>tcA	p.S1178S	SMG1_uc010bwb.3_Silent_p.S1038S	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1178	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CCTCAGGGGAAGAGTCAGTCG	0.388													T	18875133	A	T	18875133	2	4	49	1	0	0	0	0	0	0	0	1	14889	59	3	5		5	SMG1	16	18875133	Silent	SNP	A	TCGA-06-0238-01A-02D-1492-08	6943443	18875133	71479620	36	3073											
TP53	7157	broad.mit.edu	37	chr17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-																															cggttcatgccgcccatgcaGgaactgttacacatgtagtt																								rs28934573		TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr17:7577558_7577566delGGAACTGTT	uc002gim.2	-	6	909_917	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_uc002gig.1_In_Frame_Del_p.NSS239del|TP53_uc002gih.3_In_Frame_Del_p.NSS239del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.NSS107del|TP53_uc010cnf.1_In_Frame_Del_p.NSS107del|TP53_uc002gii.1_In_Frame_Del_p.NSS107del|TP53_uc010cni.1_In_Frame_Del_p.NSS239del|TP53_uc010cnh.1_In_Frame_Del_p.NSS239del|TP53_uc002gij.2_In_Frame_Del_p.NSS239del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.NSS146del|TP53_uc002gio.2_In_Frame_Del_p.NSS107del|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.S241F(163)|p.N239D(66)|p.C238Y(57)|p.N239S(50)|p.S241C(50)|p.C238F(36)|p.S240G(28)|p.N239fs*25(27)|p.C238S(19)|p.S241fs*6(18)|p.S241A(17)|p.S240R(17)|p.S241Y(16)|p.C242fs*5(15)|p.N239K(14)|p.C238R(14)|p.S241T(14)|p.N239Y(12)|p.S240I(12)|p.S241del(10)|p.N239fs*1(8)|p.N239T(8)|p.0?(8)|p.N239_C242delNSSC(6)|p.M237_N239delMCN(6)|p.S240C(6)|p.S241S(6)|p.S241P(6)|p.?(5)|p.N239_S240insX(4)|p.S148F(4)|p.N239fs*8(4)|p.S240S(4)|p.S240T(4)|p.S240fs*7(4)|p.C238*(4)|p.N239_S240delNS(4)|p.S241fs*22(4)|p.N146S(3)|p.N239fs*26(2)|p.Y236_M243delYMCNSSCM(2)|p.N239fs*6(2)|p.N239fs*4(2)|p.S240>CSC(2)|p.C238_M246delCNSSCMGGM(2)|p.S240P(2)|p.S241_C242insX(2)|p.S240fs*23(2)|p.C238del(2)|p.C238G(2)|p.C238fs*21(2)|p.C238W(2)|p.N239I(2)|p.N239N(2)|p.S241fs*7(2)|p.S240fs*26(2)|p.N239*(2)|p.H233_C242del10(2)|p.N239_C242>S(2)|p.S241fs*23(2)|p.S241_G245delSCMGG(2)|p.N239_S240insN(2)|p.C238_N239insX(2)|p.N239_C242del(2)|p.S148T(1)|p.C238fs*2(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.V225fs*23(1)|p.S148C(1)|p.N239fs*?(1)|p.C238fs*9(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.N239fs*>48(1)|p.H233fs*6(1)|p.N146fs*>10(1)|p.N146fs*1(1)|p.M237_C238insX(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)		CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)			-	7577566	GGAACTGTT	-	7577558	7	5	49	1	0	1	0	1	0	0	0	0	16482	987	35	0	567	0	TP53	17	7577558	In_Frame_Del	DEL	GGAACTGTT	TCGA-06-0238-01A-02D-1492-08		7577558	73617652	37	3074											
ZNF317	57693	broad.mit.edu	37	chr19	9271619	9271619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccgaaaccagtccatccTtaagactcacatgaactctc	12	10	4	15	1	2	2	1	1	1	1	6	3	5	2	4	0	2	0	4	0	3	2			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:9271619T>A	uc002mku.3	+	6	1603	c.1298T>A	c.(1297-1299)cTt>cAt	p.L433H	ZNF317_uc002mkv.3_Missense_Mutation_p.L292H|ZNF317_uc002mkw.3_Missense_Mutation_p.L401H|ZNF317_uc002mkx.3_Missense_Mutation_p.L348H|ZNF317_uc002mky.3_Missense_Mutation_p.L316H	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	433					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CAGTCCATCCTTAAGACTCAC	0.537													A	9271619	T	A	9271619	3	1	49	1	0	0	0	0	1	0	0	0	17936	1609	56	5	1320	5	ZNF317	19	9271619	Missense_Mutation	SNP	T	TCGA-06-0238-01A-02D-1492-08		9271619	49857364	38	3075											
NOTCH3	4854	broad.mit.edu	37	chr19	15298114	15298114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgggtcaggggagcagtCgtccacgttgcgatcacaca	9	7	14	11	3	2	0	2	0	0	0	4	2	3	1	1	3	2	3	1	3	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:15298114C>T	uc002nan.3	-	10	1718	c.1642G>A	c.(1642-1644)Gac>Aac	p.D548N	NOTCH3_uc002nao.1_Missense_Mutation_p.D548N	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	548	EGF-like 14; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGCAGTCGTCCACGTTG	0.657													T	15298114	C	T	15298114	3	4	49	1	0	0	0	0	1	0	0	0	10626	884	31	1	5415	1	NOTCH3	19	15298114	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	6026495	15298114	43830869	39	3076											
FCGBP	8857	broad.mit.edu	37	chr19	40419695	40419695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacacagtggcccagactggCctggcagcaggcagcggtca	9	4	14	14	1	1	1	1	0	0	1	1	1	1	1	2	5	2	3	2	5	0	0			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:40419695C>T	uc002omp.4	-	5	3307	c.3299G>A	c.(3298-3300)gGc>gAc	p.G1100D		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1100						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCAGACTGGCCTGGCAGCAG	0.647													T	40419695	C	T	40419695	3	4	49	1	0	0	0	0	1	0	0	0	5827	739	26	2	13042	2	FCGBP	19	40419695	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	25121581	40419695	18709288	40	3077											
NLRP2	55655	broad.mit.edu	37	chr19	55494507	55494507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcaggagtccgacctcCgtctgttcctggacggagac	6	8	15	12	3	1	1	0	0	1	1	4	5	4	3	4	4	1	2	4	4	0	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr19:55494507C>T	uc021vbq.1	+	5	1552	c.1441C>T	c.(1441-1443)Cgt>Tgt	p.R481C	NLRP2_uc010yfp.2_Missense_Mutation_p.R458C|NLRP2_uc002qij.3_Missense_Mutation_p.R481C|NLRP2_uc010esp.3_Missense_Mutation_p.R459C|NLRP2_uc010esn.3_Missense_Mutation_p.R457C|NLRP2_uc010eso.3_Missense_Mutation_p.R478C	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	481	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GTCCGACCTCCGTCTGTTCCT	0.632													T	55494507	C	T	55494507	3	4	49	1	0	0	0	0	1	0	0	0	10553	652	23	1	1459	1	NLRP2	19	55494507	Missense_Mutation	SNP	C	TCGA-06-0238-01A-02D-1492-08	15074812	55494507	3634476	41	3078											
GGT1	2678	broad.mit.edu	37	chr22	25023517	25023517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacacgccggatgacggggGcactgctcacctgtctgtcg	6	8	13	14	4	2	1	1	1	1	0	3	2	2	2	2	3	2	2	2	3	1	1			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chr22:25023517G>A	uc003aan.1	+	11	1626	c.1139G>A	c.(1138-1140)gGc>gAc	p.G380D	GGT1_uc003aas.1_Missense_Mutation_p.G380D|GGT1_uc003aat.1_Missense_Mutation_p.G380D|GGT1_uc003aau.2_Missense_Mutation_p.G380D|GGT1_uc003aav.2_Missense_Mutation_p.G380D|GGT1_uc003aaw.2_Missense_Mutation_p.G380D|GGT1_uc003aax.2_Missense_Mutation_p.G380D|GGT1_uc003aay.1_Missense_Mutation_p.G36D	NM_013430	NP_038347	P19440	GGT1_HUMAN	Homo sapiens gamma-glutamyltransferase 1 (GGT1), transcript variant 3, mRNA.	380					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	GATGACGGGGGCACTGCTCAC	0.632													A	25023517	G	A	25023517	3	1	49	1	0	0	0	0	1	0	0	0	6417	1203	42	2	1169	2	GGT1	22	25023517	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		25023517	26281049	42	3079											
MAP3K15	389840	broad.mit.edu	37	chrX	19431486	19431486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccttaccatttctgtggGtgagacatgccataaagaaa	12	11	8	10	0	1	2	0	1	1	2	2	3	2	2	4	1	2	0	4	1	4	3			TCGA-06-0238-01A-02D-1492-08	TCGA-06-0238-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e8c6b9f-0fec-49ea-9ecb-c9ba1fb4cb74	df9e1eb8-ba5f-4621-9b61-5283e3375482	g.chrX:19431486G>T	uc022btq.1	-	10	1687	c.1687C>A	c.(1687-1689)Ccc>Acc	p.P563T	MAP3K15_uc004czj.2_5'UTR|MAP3K15_uc004czk.2_Missense_Mutation_p.T5N	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	563							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATTTCTGTGGGTGAGACATGC	0.398													T	19431486	G	T	19431486	3	4	49	1	0	0	0	0	1	0	0	0	9324	1261	44	4	2330	4	MAP3K15	23	19431486	Missense_Mutation	SNP	G	TCGA-06-0238-01A-02D-1492-08		19431486	135839074	43	3080											
CCDC37	348807	broad.mit.edu	37	chr3	126133023	126133023	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaataaggctctctccGtgagtatccaggacagacgc	11	7	12	11	3	1	2	0	1	1	1	4	4	3	4	2	3	1	2	2	3	3	2	rs150312379	byFrequency	TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr3:126133023G>A	uc010hsg.1	+	3	284	c.225_splice	c.e3+1	p.S75_splice	CCDC37_uc003eiu.1_Splice_Site_p.S75_splice	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	75										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCTCTCTCCGTGAGTATCCA	0.557													A	126133023	G	A	126133023	5	1	50	1	0	0	0	0	0	0	1	0	2836	1159	40	1	236	1	CCDC37	3	126133023	Splice_Site	SNP	G	TCGA-06-0240-01A-03D-1491-08		126133023	71889407	1	3081											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167216	140167216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtggaggtggccgaCgtgaatgacaacgcgcctgc	7	7	16	11	5	0	2	0	2	0	0	1	4	1	3	3	3	2	0	3	3	2	0			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr5:140167216C>T	uc003lhb.2	+	0	1341	c.1341C>T	c.(1339-1341)gaC>gaT	p.D447D	PCDHAC2_uc003lha.2_Silent_p.D447D|PCDHAC2_uc003lgz.3_Silent_p.D447D	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	461	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.I446M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGCCGACGTGAATGACA	0.667													T	140167216	C	T	140167216	2	4	50	1	0	0	0	0	0	0	0	1	11609	535	19	1		1	PCDHAC2	5	140167216	Silent	SNP	C	TCGA-06-0240-01A-03D-1491-08		140167216	40748044	2	3082											
PPARGC1B	133522	broad.mit.edu	37	chr5	149210432	149210432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcagatctaaaagtcaaCggccttgtgttaaggtattt	11	13	9	8	1	3	1	2	0	1	1	3	1	3	1	2	2	1	2	2	2	5	5			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr5:149210432C>T	uc003lrc.3	+	3	659	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	PPARGC1B_uc003lrb.2_Missense_Mutation_p.R190W|PPARGC1B_uc003lrd.3_Intron|PPARGC1B_uc021yfr.1_Intron|PPARGC1B_uc003lre.1_Missense_Mutation_p.R169W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R169W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	190					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TAAAAGTCAACGGCCTTGTGT	0.562													T	149210432	C	T	149210432	3	4	50	1	0	0	0	0	1	0	0	0	12378	527	19	1	589	1	PPARGC1B	5	149210432	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08	9043216	149210432	31704828	3	3083											
TDRD6	221400	broad.mit.edu	37	chr6	46658843	46658843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaattagtttatataaCgcatattgatgacccttgga	14	14	8	5	1	0	4	0	3	0	1	0	5	0	5	1	1	1	2	1	1	7	8			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr6:46658843C>T	uc003oyj.3	+	0	3232	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	TDRD6_uc010jze.3_Missense_Mutation_p.T993M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	993					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTTTATATAACGCATATTGAT	0.333													T	46658843	C	T	46658843	3	4	50	1	0	0	0	0	1	0	0	0	15834	536	19	1	2980	1	TDRD6	6	46658843	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		46658843	124456224	4	3084											
RAMP3	10268	broad.mit.edu	37	chr7	45222997	45222997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggcgcagcaaacgcaccGacacgctgctgtgagggtcc	8	6	14	13	4	0	1	0	1	0	0	1	2	1	1	2	2	3	5	2	2	1	0			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr7:45222997G>A	uc003tnb.3	+	2	494	c.433G>A	c.(433-435)Gac>Aac	p.D145N		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	145					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity	p.D145N(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CAAACGCACCGACACGCTGCT	0.627													A	45222997	G	A	45222997	3	1	50	1	0	0	0	0	1	0	0	0	13111	1058	37	1	443	1	RAMP3	7	45222997	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08		45222997	113915666	5	3085											
TLR4	7099	broad.mit.edu	37	chr9	120466768	120466768	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggatgatgtctgcctcgcgCctggctgggactctgatccc	5	10	13	13	2	2	2	0	2	2	0	4	4	3	4	3	3	1	1	3	3	0	0			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr9:120466768C>G	uc004bjz.3	+	0	309	c.18C>G	c.(16-18)cgC>cgG	p.R6R	TLR4_uc004bkb.3_5'UTR|TLR4_uc004bka.3_5'UTR	NM_138554	NP_612564	O00206	TLR4_HUMAN	Homo sapiens toll-like receptor 4 (TLR4), transcript variant 1, mRNA.	6					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGCCTCGCGCCTGGCTGGGA	0.602													G	120466768	C	G	120466768	2	3	50	1	0	0	0	0	0	0	0	1	16053	726	26	4		4	TLR4	9	120466768	Silent	SNP	C	TCGA-06-0240-01A-03D-1491-08		120466768	20746663	6	3086											
MS4A8B	83661	broad.mit.edu	37	chr11	60470906	60470906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctccatcatggcgaCggttctcgtaggggaatacc	7	9	12	13	4	2	0	1	0	1	0	5	2	3	1	3	5	1	3	3	5	3	3			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr11:60470906C>T	uc001npv.3	+	2	478	c.275C>T	c.(274-276)aCg>aTg	p.T92M	MS4A8B_uc009yne.1_Missense_Mutation_p.T92M	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	92						integral to membrane	receptor activity	p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						ATCATGGCGACGGTTCTCGTA	0.552													T	60470906	C	T	60470906	3	4	50	1	0	0	0	0	1	0	0	0	9943	536	19	1	281	1	MS4A8B	11	60470906	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		60470906	74535610	7	3087											
RYR3	6263	broad.mit.edu	37	chr15	34105755	34105755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtggcctgtttcaggAtggcccctctctacaacctg	6	11	11	13	0	2	0	1	0	1	0	3	1	2	1	4	4	2	1	4	4	2	2			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:34105755A>G	uc001zhi.3	+	73	10547	c.10477A>G	c.(10477-10479)Atg>Gtg	p.M3493V	RYR3_uc010bar.3_Missense_Mutation_p.M3488V	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3493					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGTTTCAGGATGGCCCCTCT	0.527													G	34105755	A	G	34105755	3	3	50	1	0	0	0	0	1	0	0	0	13861	333	12	3	10771	3	RYR3	15	34105755	Missense_Mutation	SNP	A	TCGA-06-0240-01A-03D-1491-08		34105755	68425637	8	3088											
THBS1	7057	broad.mit.edu	37	chr15	39874573	39874573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacctggtggatgctgtgCgggcagaaaagggtttcctc	9	9	15	8	1	0	2	0	0	0	2	2	3	1	3	2	4	2	3	2	4	3	1			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:39874573C>T	uc001zkh.3	+	2	426	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	83	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GGATGCTGTGCGGGCAGAAAA	0.617													T	39874573	C	T	39874573	3	4	50	1	0	0	0	0	1	0	0	0	15953	759	27	1	253	1	THBS1	15	39874573	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08	5768818	39874573	62656819	9	3089											
PAQR5	54852	broad.mit.edu	37	chr15	69652448	69652448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaagctccccaggctgtTtagcatagaccagatacccc	10	8	8	15	0	0	3	0	1	0	2	1	3	1	3	6	1	3	4	6	1	4	4			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr15:69652448T>C	uc002arz.2	+	2	407	c.29T>C	c.(28-30)tTt>tCt	p.F10S	PAQR5_uc002asa.2_Missense_Mutation_p.F10S	NM_017705	NP_060175	Q9NXK6	MPRG_HUMAN	Homo sapiens progestin and adipoQ receptor family member V (PAQR5), transcript variant 2, mRNA.	10					cell differentiation|multicellular organismal development|oogenesis	integral to membrane	receptor activity|steroid binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|skin(1)	11						CCCAGGCTGTTTAGCATAGAC	0.542													C	69652448	T	C	69652448	3	2	50	1	0	0	0	0	1	0	0	0	11514	1841	64	3	31	3	PAQR5	15	69652448	Missense_Mutation	SNP	T	TCGA-06-0240-01A-03D-1491-08	29777875	69652448	32878944	10	3090											
CLEC3A	10143	broad.mit.edu	37	chr16	78064695	78064695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagtgatgaggcctgtcGcagcagcaagagatacatat	12	8	14	7	1	0	3	0	2	0	1	1	5	0	4	1	2	3	3	1	2	3	2			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr16:78064695G>A	uc002ffh.4	+	2	632	c.551G>A	c.(550-552)cGc>cAc	p.R184H	CLEC3A_uc021tlr.1_Missense_Mutation_p.R132H	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	184	C-type lectin.				skeletal system development	extracellular region	sugar binding	p.C183R(1)		NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						GAGGCCTGTCGCAGCAGCAAG	0.493													A	78064695	G	A	78064695	3	1	50	1	0	0	0	0	1	0	0	0	3541	1087	38	1	561	1	CLEC3A	16	78064695	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08		78064695	12290058	11	3091											
HOXB5	3215	broad.mit.edu	37	chr17	46670992	46670992	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatttagcaactgatagTccgggccatttggataacgc	12	11	9	9	2	0	1	0	1	0	0	1	2	1	2	2	2	3	1	2	2	5	6			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr17:46670992T>C	uc002inr.3	-	0	112	c.53A>G	c.(52-54)gAc>gGc	p.D18G	HOXB-AS3_uc021tzg.1_Intron|HOXB-AS3_uc021tzh.1_Intron|HOXB-AS3_uc021tzi.1_Intron|HOXB-AS3_uc021tzj.1_Intron|HOXB-AS3_uc021tzk.1_5'Flank	NM_002147	NP_002138	P09067	HXB5_HUMAN	Homo sapiens homeobox B5 (HOXB5), mRNA.	18						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CAACTGATAGTCCGGGCCATT	0.507													C	46670992	T	C	46670992	3	2	50	1	0	0	0	0	1	0	0	0	7359	1667	58	3	764	3	HOXB5	17	46670992	Missense_Mutation	SNP	T	TCGA-06-0240-01A-03D-1491-08		46670992	34524218	12	3092											
FUT3	2525	broad.mit.edu	37	chr19	5844280	5844280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccgcccaggccaccagctCggtcttggccgagaggttga	7	6	13	15	3	1	2	0	1	1	1	2	3	1	2	5	4	1	2	5	4	0	2			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr19:5844280C>T	uc002mdk.2	-	1	668	c.571G>A	c.(571-573)Gag>Aag	p.E191K	FUT3_uc002mdm.2_Missense_Mutation_p.E191K|FUT3_uc002mdj.2_Missense_Mutation_p.E191K|FUT3_uc002mdl.2_Missense_Mutation_p.E191K|FUT3_uc021unn.1_Missense_Mutation_p.E191K	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	191					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GCCACCAGCTCGGTCTTGGCC	0.667													T	5844280	C	T	5844280	3	4	50	1	0	0	0	0	1	0	0	0	6157	893	31	1	518	1	FUT3	19	5844280	Missense_Mutation	SNP	C	TCGA-06-0240-01A-03D-1491-08		5844280	53284703	13	3093											
MUC16	94025	broad.mit.edu	37	chr19	9003616	9003616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacttcctggagccagggcGacgcatgtcctcctcatact	8	9	10	14	2	1	0	1	0	0	0	4	3	4	1	4	2	3	1	4	2	2	2			TCGA-06-0240-01A-03D-1491-08	TCGA-06-0240-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	20f74001-1cb8-451d-8173-5795fa93432b	276d21da-719b-4970-8733-aa745d09281a	g.chr19:9003616G>A	uc002mkp.3	-	48	40228	c.40024C>T	c.(40024-40026)Cgc>Tgc	p.R13342C	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.R159C|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13344	SEA 9.				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						GAGCCAGGGCGACGCATGTCC	0.552													A	9003616	G	A	9003616	3	1	50	1	0	0	0	0	1	0	0	0	10049	1058	37	1	3643	1	MUC16	19	9003616	Missense_Mutation	SNP	G	TCGA-06-0240-01A-03D-1491-08	3159336	9003616	50125367	14	3094											
MEGF6	1953	broad.mit.edu	37	chr1	3407152	3407152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggcgggcagtgtgccCgctggggaaaaggagaaaag	11	4	19	7	2	0	1	0	0	0	1	0	4	0	3	1	6	1	2	1	6	4	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:3407152C>T	uc001akl.3	-	37	4792	c.4565_splice	c.e37-1	p.A1522_splice	MEGF6_uc001akk.3_Splice_Site_p.A1210_splice	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1522						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCAGTGTGCCCGCTGGGGAAA	0.672													T	3407152	C	T	3407152	2	4	51	1	0	0	0	0	0	0	0	1	9537	666	23	1		1	MEGF6	1	3407152	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		3407152	245843469	1	3095											
PER3	8863	broad.mit.edu	37	chr1	7845640	7845640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccgctgtgtccacagcGttcaaggtaaacaagccgga	10	8	10	13	3	2	0	1	0	1	0	4	1	3	1	3	2	3	3	3	2	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:7845640G>A	uc001aop.3	+	1	492	c.268G>A	c.(268-270)Gtt>Att	p.V90I	PER3_uc009vmg.1_Missense_Mutation_p.V90I|PER3_uc009vmh.1_Missense_Mutation_p.V90I|PER3_uc001aoo.3_Missense_Mutation_p.V90I|PER3_uc010nzw.2_5'UTR|PER3_uc001aon.3_Missense_Mutation_p.V90I	NM_016831	NP_058515	P56645	PER3_HUMAN	Homo sapiens period homolog 3 (Drosophila) (PER3), mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACAGCGTTCAAGGTAA	0.483													A	7845640	G	A	7845640	3	1	51	1	0	0	0	0	1	0	0	0	11807	1145	40	1	274	1	PER3	1	7845640	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	4438488	7845640	241404981	2	3096											
SLC2A7	155184	broad.mit.edu	37	chr1	9064868	9064868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccagtgcactgccccGtccaccatgaaagctgcccg	8	6	11	16	2	0	2	0	2	0	0	1	2	1	2	6	0	5	2	6	0	1	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:9064868G>A	uc009vmo.1	-	10	1263	c.1263C>T	c.(1261-1263)gaC>gaT	p.D421D		NM_207420	NP_997303	Q6PXP3	GTR7_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 7 (SLC2A7), mRNA.	421						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.D421D(2)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCACTGCCCCGTCCACCATGA	0.652													A	9064868	G	A	9064868	2	1	51	1	0	0	0	0	0	0	0	1	14644	1136	40	1		1	SLC2A7	1	9064868	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	1219228	9064868	240185753	3	3097											
CSF3R	1441	broad.mit.edu	37	chr1	36932400	36932400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttggtgatgggtggcGtgccaaggccgggcagctgg	5	8	20	8	2	0	2	0	2	0	0	0	2	0	2	2	6	3	3	2	6	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:36932400G>A	uc001caw.2	-	16	2653	c.2069C>T	c.(2068-2070)aCg>aTg	p.T690M	MRPS15_uc001cas.2_5'Flank|CSF3R_uc001cav.2_Missense_Mutation_p.T690M|CSF3R_uc001cax.2_Missense_Mutation_p.T717M	NM_000760	NP_000751	Q99062	CSF3R_HUMAN	Homo sapiens colony stimulating factor 3 receptor (granulocyte) (CSF3R), transcript variant 1, mRNA.	690					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity	p.T717M(1)		central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	GATGGGTGGCGTGCCAAGGCC	0.612													A	36932400	G	A	36932400	3	1	51	1	0	0	0	0	1	0	0	0	3970	1145	40	1	554	1	CSF3R	1	36932400	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	27867532	36932400	212318221	4	3098											
DNALI1	7802	broad.mit.edu	37	chr1	38027710	38027710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggagacggaaaagagagAcctggagaggcaagtgaacg	16	4	16	5	2	0	5	0	1	0	4	0	9	0	6	1	4	1	1	1	4	4	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:38027710A>G	uc001cbj.3	+	4	681	c.671A>G	c.(670-672)gAc>gGc	p.D224G	DNALI1_uc010oie.2_Non-coding_Transcript	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	202					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GAAAAGAGAGACCTGGAGAGG	0.557											OREG0013380	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	38027710	A	G	38027710	3	3	51	1	0	0	0	0	1	0	0	0	4698	275	10	3	689	3	DNALI1	1	38027710	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	1095310	38027710	211222911	5	3099											
FAM46C	54855	broad.mit.edu	37	chr1	118165644	118165644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataactctgaaggacatcGtccagaccgtccgcagtcgg	11	7	11	12	4	1	3	0	1	1	2	5	4	3	4	3	2	1	1	3	2	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:118165644G>A	uc021osq.1	+	0	154	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	FAM46C_uc001ehe.3_Missense_Mutation_p.V52I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	52								p.V52I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GAAGGACATCGTCCAGACCGT	0.567			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			A	118165644	G	A	118165644	3	1	51	1	0	0	0	0	1	0	0	0	5618	1145	40	1	156	1	FAM46C	1	118165644	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	80137934	118165644	131084977	6	3100											
ZNF697	90874	broad.mit.edu	37	chr1	120165750	120165750	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacatgtagggcttctCgcccgtgtgcacgcgctggt	5	9	15	12	4	1	0	0	0	1	0	2	1	1	1	1	3	2	5	1	3	1	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:120165750C>A	uc001ehy.1	-	2	1330	c.1216G>T	c.(1216-1218)Gag>Tag	p.E406*		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TAGGGCTTCTCGCCCGTGTGC	0.672													A	120165750	C	A	120165750	4	1	51	1	0	0	0	0	0	1	0	0	18201	893	31	4	425	4	ZNF697	1	120165750	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	2000106	120165750	129084871	7	3101											
AQP10	89872	broad.mit.edu	37	chr1	154294529	154294529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctacgtgggtggtaacGtctcaggtgaggagggtggg	7	9	18	7	2	2	1	1	1	2	0	3	2	2	2	1	6	2	1	1	6	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:154294529G>A	uc001feu.3	+	1	266	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	76					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GGGTGGTAACGTCTCAGGTGA	0.547													A	154294529	G	A	154294529	3	1	51	1	0	0	0	0	1	0	0	0	825	1145	40	1	232	1	AQP10	1	154294529	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	34128779	154294529	94956092	8	3102											
TMEM79	84283	broad.mit.edu	37	chr1	156255048	156255048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggagaccctggccctactgGaagtgaagaggtctgattcc	10	8	13	10	0	1	4	0	2	1	2	2	6	2	5	3	4	1	0	3	4	3	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr1:156255048G>A	uc010phi.2	+	1	227	c.31G>A	c.(31-33)Gaa>Aaa	p.E11K	SMG5_uc001foc.4_5'Flank|TMEM79_uc001fod.3_5'UTR|TMEM79_uc009wrw.3_Missense_Mutation_p.E11K	NM_032323	NP_115699	Q9BSE2	TMM79_HUMAN	Homo sapiens transmembrane protein 79 (TMEM79), transcript variant 1, mRNA.	11						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					GGCCCTACTGGAAGTGAAGAG	0.597													A	156255048	G	A	156255048	3	1	51	1	0	0	0	0	1	0	0	0	16303	1175	41	2	33	2	TMEM79	1	156255048	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	1960519	156255048	92995573	9	3103											
CD207	50489	broad.mit.edu	37	chr2	71060827	71060827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctgccctggagtgccCggatctttgtatttaaagca	9	11	10	11	1	1	0	0	0	1	0	1	2	1	2	3	2	4	3	3	2	4	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:71060827C>T	uc002shg.3	-	2	562	c.515G>A	c.(514-516)cGg>cAg	p.R172Q		NM_015717	NP_056532	Q9UJ71	CLC4K_HUMAN	Homo sapiens CD207 molecule, langerin (CD207), mRNA.	172					defense response to virus	endocytic vesicle|integral to membrane	mannose binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|stomach(1)	20						CTGGAGTGCCCGGATCTTTGT	0.428													T	71060827	C	T	71060827	3	4	51	1	0	0	0	0	1	0	0	0	3013	652	23	1	487	1	CD207	2	71060827	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		71060827	172138546	10	3104											
TBC1D8	11138	broad.mit.edu	37	chr2	101655055	101655055	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggccaccttgcttctGatactgacaatgatgggatg	10	11	12	8	0	1	3	0	3	1	0	1	5	1	5	2	3	2	1	2	3	3	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:101655055G>T	uc010fiv.3	-	6	1229	c.1098C>A	c.(1096-1098)atC>atA	p.I366I	TBC1D8_uc010yvw.2_Silent_p.I381I|TBC1D8_uc002tau.4_Silent_p.I123I	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	366					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCTTGCTTCTGATACTGACAA	0.612													T	101655055	G	T	101655055	2	4	51	1	0	0	0	0	0	0	0	1	15725	1280	45	4		4	TBC1D8	2	101655055	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	30594228	101655055	141544318	11	3105											
LRP1B	53353	broad.mit.edu	37	chr2	141597647	141597647	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtttccatcggtccagtAgagttttcttaattcaaaag	10	16	8	7	1	2	1	1	0	1	1	5	1	4	1	2	1	0	3	2	1	4	6			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr2:141597647A>T	uc002tvj.1	-	30	6094	c.5122T>A	c.(5122-5124)Tac>Aac	p.Y1708N		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	1708					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCGGTCCAGTAGAGTTTTCTT	0.318										TSP Lung(27;0.18)			T	141597647	A	T	141597647	3	4	51	1	0	0	0	0	1	0	0	0	9025	420	15	5	8921	5	LRP1B	2	141597647	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	39942592	141597647	101601726	12	3106											
ARL8B	55207	broad.mit.edu	37	chr3	5214343	5214343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaagttacatgatagAtgctgcagatcgtgaaaaga	14	14	9	4	1	0	5	0	2	0	3	1	5	0	5	0	0	3	3	0	0	5	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:5214343A>G	uc003bqg.3	+	3	511	c.290A>G	c.(289-291)gAt>gGt	p.D97G	ARL8B_uc011asx.2_Missense_Mutation_p.D88G|ARL8B_uc011asy.2_Missense_Mutation_p.D97G	NM_018184	NP_060654	Q9NVJ2	ARL8B_HUMAN	Homo sapiens ADP-ribosylation factor-like 8B (ARL8B), mRNA.	97					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		TACATGATAGATGCTGCAGAT	0.323													G	5214343	A	G	5214343	3	3	51	1	0	0	0	0	1	0	0	0	952	333	12	3	304	3	ARL8B	3	5214343	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		5214343	192808087	13	3107											
ITGA9	3680	broad.mit.edu	37	chr3	37547525	37547525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccacttctctcacccGtccaccattgatgtggtagg	6	11	10	14	1	2	1	1	1	1	0	4	1	3	1	4	3	0	2	4	3	1	3	rs145062473		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:37547525G>A	uc003chd.3	+	6	830	c.777G>A	c.(775-777)ccG>ccA	p.P259P	ITGA9_uc003chc.3_Silent_p.P259P	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	259					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity	p.P259P(2)		breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TCTCTCACCCGTCCACCATTG	0.537													A	37547525	G	A	37547525	2	1	51	1	0	0	0	0	0	0	0	1	7941	1132	40	1		1	ITGA9	3	37547525	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	32333182	37547525	160474905	14	3108											
CELSR3	1951	broad.mit.edu	37	chr3	48679336	48679336	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgctcggcagagtggccgTtggaagcgcccccgcgtccg	4	6	16	15	6	0	1	0	0	0	1	2	2	1	2	4	3	2	4	4	3	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:48679336T>G	uc003cuf.1	-	33	9066	c.9066A>C	c.(9064-9066)caA>caC	p.Q3022H	CELSR3_uc010hkf.3_Missense_Mutation_p.Q214H|CELSR3_uc010hkg.3_Missense_Mutation_p.Q907H|CELSR3_uc003cul.3_Missense_Mutation_p.Q2924H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2924					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		AGAGTGGCCGTTGGAAGCGCC	0.622													G	48679336	T	G	48679336	3	3	51	1	0	0	0	0	1	0	0	0	3253	1722	60	5	1182	5	CELSR3	3	48679336	Missense_Mutation	SNP	T	TCGA-06-0241-01A-02D-1491-08	11131811	48679336	149343094	15	3109											
MAGI1	9223	broad.mit.edu	37	chr3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagattttaaaaggatctgGttttttctggccagagctgt	9	15	10	7	0	2	2	0	0	2	2	2	3	2	3	2	3	1	2	2	3	2	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:65376868G>T	uc003dmn.3	-	13	2891	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_uc003dmm.3_Missense_Mutation_p.P789T|MAGI1_uc003dmo.3_Missense_Mutation_p.P789T|MAGI1_uc003dmp.3_Missense_Mutation_p.P789T|MAGI1_uc010hnx.1_Missense_Mutation_p.P72T	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(3)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567													T	65376868	G	T	65376868	3	4	51	1	0	0	0	0	1	0	0	0	9265	1261	44	4	2297	4	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	16697532	65376868	132645562	16	3110											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459902	122459902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggattctctgcagttttcAgggcacacacaagcatacgg	10	10	11	10	1	2	0	1	0	1	0	3	1	2	1	0	3	3	4	0	3	2	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:122459902A>G	uc003efu.2	-	6	1023	c.884T>C	c.(883-885)cTg>cCg	p.L295P	HSPBAP1_uc003eft.2_Missense_Mutation_p.L6P	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	295						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TGCAGTTTTCAGGGCACACAC	0.458													G	122459902	A	G	122459902	3	3	51	1	0	0	0	0	1	0	0	0	7483	188	7	3	590	3	HSPBAP1	3	122459902	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	57083034	122459902	75562528	17	3111											
YEATS2	55689	broad.mit.edu	37	chr3	183454552	183454552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggggtgagtttcccGtcagagttcaagttcatttt	7	14	13	7	1	3	2	3	1	0	1	4	3	4	2	1	3	0	4	1	3	1	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr3:183454552G>A	uc003fly.2	+	7	1054	c.859G>A	c.(859-861)Gtc>Atc	p.V287I		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	287	YEATS.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding	p.P286P(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGAGTTTCCCGTCAGAGTTCA	0.418													A	183454552	G	A	183454552	3	1	51	1	0	0	0	0	1	0	0	0	17574	1145	40	1	885	1	YEATS2	3	183454552	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	60994650	183454552	14567878	18	3112											
PDGFRA	5156	broad.mit.edu	37	chr4	55133562	55133562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacagtggagattacgAatgtgctgcccgccaggcta	12	7	13	9	2	0	2	0	0	0	2	0	5	0	2	2	2	3	2	2	2	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55133562A>G	uc003han.4	+	5	1197	c.866A>G	c.(865-867)gAa>gGa	p.E289G	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E183G|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	289	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.E289K(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGAGATTACGAATGTGCTGCC	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G	55133562	A	G	55133562	3	3	51	1	0	0	0	0	1	0	0	0	11737	246	9	3	884	3	PDGFRA	4	55133562	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		55133562	136020714	19	3113											
KDR	3791	broad.mit.edu	37	chr4	55955634	55955634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttaccccaggatatggaGaagcacctagaataaaacag	16	8	8	9	0	1	2	0	0	1	2	1	4	1	3	3	2	3	1	3	2	7	5	rs138424770		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:55955634G>A	uc003has.3	-	24	3613	c.3311C>T	c.(3310-3312)tCt>tTt	p.S1104F	KDR_uc003hat.1_Missense_Mutation_p.S1104F	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1104	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATGGAGAAGCACCTAG	0.393			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55955634	G	A	55955634	3	1	51	1	0	0	0	0	1	0	0	0	8197	942	33	2	783	2	KDR	4	55955634	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	822072	55955634	135198642	20	3114											
KIAA1109	84162	broad.mit.edu	37	chr4	123107257	123107257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcatgtctataatcgctCggatctttatggacgccttc	8	16	7	10	3	3	0	1	0	2	0	6	2	3	2	1	2	0	1	1	2	3	6			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:123107257C>T	uc003ieh.3	+	4	470	c.425C>T	c.(424-426)tCg>tTg	p.S142L	KIAA1109_uc003iei.1_5'UTR	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	142					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TATAATCGCTCGGATCTTTAT	0.358													T	123107257	C	T	123107257	3	4	51	1	0	0	0	0	1	0	0	0	8266	893	31	1	443	1	KIAA1109	4	123107257	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	67151623	123107257	68047019	21	3115											
ANKRD50	57182	broad.mit.edu	37	chr4	125593092	125593092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgtgcttccaatggtgttAaattcttggcttgacaggta	8	16	10	7	0	1	1	0	1	1	0	2	1	2	1	1	3	1	4	1	3	4	7			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:125593092A>G	uc010inw.3	-	3	2378	c.1340T>C	c.(1339-1341)tTa>tCa	p.L447S	ANKRD50_uc011cgo.2_Missense_Mutation_p.L268S	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	447										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CAATGGTGTTAAATTCTTGGC	0.388													G	125593092	A	G	125593092	3	3	51	1	0	0	0	0	1	0	0	0	677	372	13	3	2953	3	ANKRD50	4	125593092	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	2485835	125593092	65561184	22	3116											
SH3D19	152503	broad.mit.edu	37	chr4	152096196	152096196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtataaggccagggtttGgtttctttggcaattcaggt	7	16	12	6	1	2	0	1	0	1	0	3	0	2	0	1	5	0	4	1	5	3	7			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr4:152096196G>C	uc010ipl.1	-	6	1410	c.320C>G	c.(319-321)cCa>cGa	p.P107R	SH3D19_uc003imc.2_Missense_Mutation_p.P107R|SH3D19_uc003ime.2_Missense_Mutation_p.P107R|SH3D19_uc010ipm.2_Missense_Mutation_p.P107R	NM_001009555	NP_001009555	Q5HYK7	SH319_HUMAN	Homo sapiens SH3 domain containing 19 (SH3D19), transcript variant 1, mRNA.	107	Pro-rich.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGGGTTTGGTTTCTTTGG	0.537													C	152096196	G	C	152096196	3	2	51	1	0	0	0	0	1	0	0	0	14342	1348	47	4	2112	4	SH3D19	4	152096196	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	26503104	152096196	39058080	23	3117											
PCDHAC2	56146	broad.mit.edu	37	chr5	140176220	140176220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	8	6	15	12	6	0	1	0	0	0	1	1	4	0	2	1	3	4	3	1	3	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:140176220C>T	uc003lhd.2	+	0	1777	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.D557D|PCDHAC2_uc011czy.2_Silent_p.D557D	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	571	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.687													T	140176220	C	T	140176220	2	4	51	1	0	0	0	0	0	0	0	1	11609	535	19	1		1	PCDHAC2	5	140176220	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		140176220	40739040	24	3118											
RBM27	54439	broad.mit.edu	37	chr5	145598558	145598558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctaactagatgtgatgctGatccttcagccttagccaac	10	12	8	11	0	2	3	1	2	1	1	3	3	3	3	3	0	5	1	3	0	4	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:145598558G>A	uc003lnz.4	+	1	236	c.70G>A	c.(70-72)Gat>Aat	p.D24N	RBM27_uc003lny.2_Missense_Mutation_p.D24N	NM_018989	NP_061862	Q9P2N5	RBM27_HUMAN	Homo sapiens RNA binding motif protein 27 (RBM27), mRNA.	24					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGTGATGCTGATCCTTCAGC	0.333													A	145598558	G	A	145598558	3	1	51	1	0	0	0	0	1	0	0	0	13215	1290	45	2	76	2	RBM27	5	145598558	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	5422338	145598558	35316702	25	3119											
NDST1	3340	broad.mit.edu	37	chr5	149922522	149922522	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggccacaactatcacaaAggcatcgactggtgagttgg	13	8	11	9	1	1	1	1	1	0	0	2	2	1	1	1	4	1	2	1	4	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr5:149922522A>G	uc003lsk.4	+	9	2461	c.1959A>G	c.(1957-1959)aaA>aaG	p.K653K	NDST1_uc011dcj.2_Silent_p.K653K	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	653	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTATCACAAAGGCATCGACT	0.567													G	149922522	A	G	149922522	2	3	51	1	0	0	0	0	0	0	0	1	10331	69	3	3		3	NDST1	5	149922522	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	4323964	149922522	30992738	26	3120											
POU5F1	5460	broad.mit.edu	37	chr6	31133413	31133413	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagggccgcagcttacAcatgttcttgaagctaagct	11	9	10	11	1	1	1	0	1	1	0	1	1	1	1	1	1	5	6	1	1	4	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31133413A>G	uc003nsv.3	-	2	646	c.592T>C	c.(592-594)Tgt>Cgt	p.C198R	POU5F1_uc003nsu.3_Missense_Mutation_p.C27R|POU5F1_uc021yuj.1_Missense_Mutation_p.C27R|POU5F1_uc011dnf.1_5'Flank	NM_002701	NP_002692	Q01860	PO5F1_HUMAN	Homo sapiens POU class 5 homeobox 1 (POU5F1), transcript variant 1, mRNA.	198	POU-specific.				anatomical structure morphogenesis|blastocyst development|BMP signaling pathway involved in heart induction|cardiac cell fate determination|cell fate commitment involved in formation of primary germ layers|mRNA transcription from RNA polymerase II promoter|negative regulation of gene silencing by miRNA|positive regulation of catenin import into nucleus|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|regulation of asymmetric cell division|regulation of heart induction by regulation of canonical Wnt receptor signaling pathway|regulation of methylation-dependent chromatin silencing|response to wounding|somatic stem cell maintenance	cytosol|nucleoplasm|transcription factor complex	miRNA binding|sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding		EWSR1/POU5F1(10)	breast(1)|large_intestine(2)|lung(3)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	13						CGCAGCTTACACATGTTCTTG	0.547			T	EWSR1	sarcoma								G	31133413	A	G	31133413	3	3	51	1	0	0	0	0	1	0	0	0	12358	159	6	3	502	3	POU5F1	6	31133413	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08		31133413	139981654	27	3121											
NEU1	4758	broad.mit.edu	37	chr6	31829050	31829050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgctccaggaaacaccaTcatccttgctccataccaac	11	9	6	15	0	1	0	1	0	0	0	4	1	4	1	5	1	5	2	5	1	3	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:31829050T>C	uc003nxq.4	-	2	686	c.530A>G	c.(529-531)gAt>gGt	p.D177G		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	177						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GGAAACACCATCATCCTTGCT	0.532													C	31829050	T	C	31829050	3	2	51	1	0	0	0	0	1	0	0	0	10417	1435	50	3	733	3	NEU1	6	31829050	Missense_Mutation	SNP	T	TCGA-06-0241-01A-02D-1491-08	695637	31829050	139286017	28	3122											
HIVEP2	3097	broad.mit.edu	37	chr6	143074691	143074691	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccgaggagaggagggAgtgctaggtggaccagatga	13	4	18	6	1	0	3	0	1	0	2	0	8	0	6	2	5	3	1	2	5	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:143074691A>G	uc003qjd.3	-	9	7637	c.6894T>C	c.(6892-6894)acT>acC	p.T2298T		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	2298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAGAGGAGGGAGTGCTAGGTG	0.527													G	143074691	A	G	143074691	2	3	51	1	0	0	0	0	0	0	0	1	7242	291	11	3		3	HIVEP2	6	143074691	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	111245641	143074691	28040376	29	3123											
T	6862	broad.mit.edu	37	chr6	166571992	166571992	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggagccccggaagaactgGgcccccagcccgttggacac	8	3	15	15	2	0	1	0	0	0	1	0	4	0	4	5	5	3	1	5	5	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr6:166571992G>T	uc003qut.1	-	7	1408	c.1122C>A	c.(1120-1122)gcC>gcA	p.A374A	T_uc003quu.1_Silent_p.A373A|T_uc003quv.1_Silent_p.A315A	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	373					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GGAAGAACTGGGCCCCCAGCC	0.692									Chordoma, Familial Clustering of				T	166571992	G	T	166571992	2	4	51	1	0	0	0	0	0	0	0	1	15585	1219	43	4		4	T	6	166571992	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	23497301	166571992	4543075	30	3124											
MAGI2	9863	broad.mit.edu	37	chr7	77973153	77973153	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatcacacttttcacctgCagaaactcatcaggctcgtc	11	10	7	13	1	4	1	4	0	0	1	6	2	4	2	1	2	2	2	1	2	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:77973153C>T	uc003ugx.3	-	8	1604	c.1350G>A	c.(1348-1350)ctG>ctA	p.L450L	MAGI2_uc003ugy.3_Silent_p.L450L|MAGI2_uc010ldx.1_Silent_p.L59L|MAGI2_uc010ldy.1_Silent_p.L59L|MAGI2_uc011kgr.1_Silent_p.L282L|MAGI2_uc011kgs.1_Silent_p.L287L	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	450	PDZ 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTCACCTGCAGAAACTCAT	0.453													T	77973153	C	T	77973153	2	4	51	1	0	0	0	0	0	0	0	1	9266	697	25	2		2	MAGI2	7	77973153	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		77973153	81165510	31	3125											
DNAJC2	27000	broad.mit.edu	37	chr7	102953526	102953526	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgttcttctgttgtccaAggggtgaagtctgtatatgg	6	17	12	6	0	4	1	0	1	4	0	5	1	5	1	1	3	0	3	1	3	4	6			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:102953526A>G	uc003vbo.3	-	15	1910	c.1659T>C	c.(1657-1659)ccT>ccC	p.P553P	PMPCB_uc003vbl.3_3'UTR|PMPCB_uc011kll.1_Intron|DNAJC2_uc003vbn.3_Silent_p.P178P|DNAJC2_uc010lix.3_Silent_p.P500P|DNAJC2_uc003vbp.3_Silent_p.P178P	NM_014377	NP_055192	Q99543	DNJC2_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 2 (DNAJC2), transcript variant 1, mRNA.	553	SANT 2.				'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTGTTGTCCAAGGGGTGAAGT	0.393													G	102953526	A	G	102953526	2	3	51	1	0	0	0	0	0	0	0	1	4678	59	3	3		3	DNAJC2	7	102953526	Silent	SNP	A	TCGA-06-0241-01A-02D-1491-08	24980373	102953526	56185137	32	3126											
RELN	5649	broad.mit.edu	37	chr7	103281043	103281043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaatttgagacatgaCgggccaatataaactgtggg	15	8	12	6	1	0	3	0	2	0	2	0	5	0	3	1	2	2	0	1	2	6	3	rs146749232		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:103281043C>T	uc022ajr.1	-	16	2176	c.2016G>A	c.(2014-2016)ccG>ccA	p.P672P	RELN_uc022ajq.1_Silent_p.P672P|RELN_uc010liz.3_Silent_p.P672P	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	672	EGF-like 1.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAGACATGACGGGCCAATAT	0.368													T	103281043	C	T	103281043	2	4	51	1	0	0	0	0	0	0	0	1	13308	523	19	1		1	RELN	7	103281043	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	327517	103281043	55857620	33	3127											
CNOT4	4850	broad.mit.edu	37	chr7	135047676	135047676	+	Frame_Shift_Del	DEL	G	G	-																															gaactctgtagtaaatctgtGggggttttgctggggggtct																										TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047676delG	uc011kpy.2	-	11	2434	c.2103delC	c.(2101-2103)cccfs	p.P701fs	CNOT4_uc011kpz.2_Frame_Shift_Del_p.P698fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.P630fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.P627fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	370					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						GTAAATCTGTGGGGGTTTTGC	0.527													-	135047676	G	-	135047676	7	5	51	1	0	1	0	1	0	0	0	0	3652	1335	47	0	42	0	CNOT4	7	135047676	Frame_Shift_Del	DEL	G	TCGA-06-0241-01A-02D-1491-08	31766633	135047676	24090987	34	3128	3	2									
CNOT4	4850	broad.mit.edu	37	chr7	135047681	135047681	+	Frame_Shift_Del	DEL	T	T	-																															ctgtagtaaatctgtgggggTtttgctggggggtctgaagg																										TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr7:135047681delT	uc011kpy.2	-	11	2429	c.2098delA	c.(2098-2100)accfs	p.T700fs	CNOT4_uc011kpz.2_Frame_Shift_Del_p.T697fs|CNOT4_uc003vst.3_Frame_Shift_Del_p.T629fs|CNOT4_uc003vss.3_Frame_Shift_Del_p.T626fs	NM_001190850	NP_001177779	O95628	CNOT4_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 4 (CNOT4), transcript variant 6, mRNA.	369					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGTGGGGGTTTTGCTGGGG	0.527													-	135047681	T	-	135047681	7	5	51	1	0	1	0	1	0	0	0	0	3652	1725	60	0	47	0	CNOT4	7	135047681	Frame_Shift_Del	DEL	T	TCGA-06-0241-01A-02D-1491-08	5	135047681	24090982	35	3129	3	2									
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	11	12	8	10	1	2	1	0	1	2	0	5	2	3	2	2	2	2	2	2	2	5	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:41456786G>A	uc003xnz.2	+	1	1067	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819	NP_848934	Q86UL3	GPAT4_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 6 (lysophosphatidic acid acyltransferase, zeta) (AGPAT6), mRNA.	43					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.R43H(4)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433													A	41456786	G	A	41456786	3	1	51	1	0	0	0	0	1	0	0	0	391	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		41456786	104907236	36	3130											
FAM83H	286077	broad.mit.edu	37	chr8	144808129	144808129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccaggatcttgggcaCgaacttgcccaccttgctgt	6	10	11	14	2	1	0	0	0	1	0	1	2	1	1	3	2	4	2	3	2	1	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr8:144808129C>T	uc003yzk.3	-	4	3571	c.3502G>A	c.(3502-3504)Gtg>Atg	p.V1168M		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1168					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ATCTTGGGCACGAACTTGCCC	0.647													T	144808129	C	T	144808129	3	4	51	1	0	0	0	0	1	0	0	0	5690	536	19	1	41	1	FAM83H	8	144808129	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	103351343	144808129	1555893	37	3131											
KIAA1432	57589	broad.mit.edu	37	chr9	5765489	5765489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactagaacaaggcaagtggGacctttgtcgacacatgatt	13	9	10	9	1	0	2	0	1	0	1	1	4	0	3	1	2	1	1	1	2	4	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:5765489G>A	uc003zjl.4	+	18	2997	c.2806G>A	c.(2806-2808)Gac>Aac	p.D936N	KIAA1432_uc003zjh.3_Missense_Mutation_p.D894N|KIAA1432_uc003zji.3_Missense_Mutation_p.D894N|KIAA1432_uc003zjj.1_Missense_Mutation_p.D436N	NM_001206557	NP_001193486	Q4ADV7	RIC1_HUMAN	Homo sapiens KIAA1432 (KIAA1432), transcript variant 3, mRNA.	973						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		AGGCAAGTGGGACCTTTGTCG	0.448													A	5765489	G	A	5765489	3	1	51	1	0	0	0	0	1	0	0	0	8291	1174	41	2	2754	2	KIAA1432	9	5765489	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		5765489	135447942	38	3132											
TESK1	7016	broad.mit.edu	37	chr9	35608190	35608190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgcctgctttccgaactCtggtgggggatgactgccca	6	11	13	11	1	1	1	0	1	1	0	2	3	2	2	3	3	4	1	3	3	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:35608190C>G	uc003zxa.3	+	7	1165	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	TESK1_uc010mks.3_Missense_Mutation_p.L117V	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	277	Protein kinase.				cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTTCCGAACTCTGGTGGGGGA	0.597													G	35608190	C	G	35608190	3	3	51	1	0	0	0	0	1	0	0	0	15867	912	32	4	859	4	TESK1	9	35608190	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	29842701	35608190	105605241	39	3133											
OR13C8	138802	broad.mit.edu	37	chr9	107332367	107332367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggatgtaaaggctgctGtcaaaaacatactgtgtagg	15	9	11	6	0	1	0	1	0	0	0	1	1	1	1	0	3	3	4	0	3	7	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:107332367G>T	uc011lvo.2	+	0	919	c.919G>T	c.(919-921)Gtc>Ttc	p.V307F		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	307					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						AAAGGCTGCTGTCAAAAACAT	0.373													T	107332367	G	T	107332367	3	4	51	1	0	0	0	0	1	0	0	0	11014	1377	48	4	921	4	OR13C8	9	107332367	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	71724177	107332367	33881064	40	3134											
ASS1	445	broad.mit.edu	37	chr9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatggaccgggaagtgcGcaaaatcaaacaaggcctgg	14	4	12	11	2	1	0	1	0	0	0	1	2	1	2	3	4	2	1	3	4	5	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr9:133364801G>A	uc010mza.3	+	12	1656	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ASS1_uc004bzm.3_Missense_Mutation_p.R307H|ASS1_uc004bzn.3_Missense_Mutation_p.R307H	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	307					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													A	133364801	G	A	133364801	3	1	51	1	0	0	0	0	1	0	0	0	1066	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	26032434	133364801	7848630	41	3135											
SVIL	6840	broad.mit.edu	37	chr10	29839816	29839816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtccttggattcaccGgcacaggtcctgagccccat	8	9	10	14	1	1	1	1	1	0	0	3	2	3	2	5	3	1	2	5	3	1	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr10:29839816G>A	uc001iut.1	-	5	1290	c.537C>T	c.(535-537)gcC>gcT	p.A179A	SVIL_uc001iuu.1_Silent_p.A179A|SVIL_uc009xld.1_Silent_p.A179A	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	179					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				TGGATTCACCGGCACAGGTCC	0.557													A	29839816	G	A	29839816	2	1	51	1	0	0	0	0	0	0	0	1	15517	1103	39	1		1	SVIL	10	29839816	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08		29839816	105694931	42	3136											
MUC5B	727897	broad.mit.edu	37	chr11	1251288	1251288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccgtgccctggcacctGctctgtgcagggcggggccc	2	7	15	17	2	1	0	0	0	1	0	1	0	1	0	5	4	4	3	5	4	0	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:1251288G>A	uc001lta.3	+	10	1333	c.1274G>A	c.(1273-1275)tGc>tAc	p.C425Y	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Missense_Mutation_p.C425Y	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	425	VWFD 2.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTGGCACCTGCTCTGTGCAG	0.652													A	1251288	G	A	1251288	3	1	51	1	0	0	0	0	1	0	0	0	10055	1319	46	2	1325	2	MUC5B	11	1251288	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		1251288	133755228	43	3137											
NAV2	89797	broad.mit.edu	37	chr11	20099593	20099593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgctaaagaaacagaacGcagctgcccaggctgccatt	13	6	10	12	1	0	2	0	0	0	2	0	2	0	2	2	1	7	5	2	1	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:20099593G>A	uc010rdm.2	+	25	5651	c.5290G>A	c.(5290-5292)Gca>Aca	p.A1764T	NAV2_uc001mpp.3_Missense_Mutation_p.A1644T|NAV2_uc001mpr.4_Missense_Mutation_p.A1708T|NAV2_uc021qew.1_Missense_Mutation_p.A1708T|NAV2_uc001mpt.2_Missense_Mutation_p.A757T|NAV2_uc009yhx.3_Missense_Mutation_p.A772T|NAV2_uc009yhy.1_Missense_Mutation_p.A670T|NAV2_uc009yhz.3_Missense_Mutation_p.A353T|NAV2_uc001mpu.3_Missense_Mutation_p.A146T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1764						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAACAGAACGCAGCTGCCCA	0.433													A	20099593	G	A	20099593	3	1	51	1	0	0	0	0	1	0	0	0	10260	1087	38	1	5325	1	NAV2	11	20099593	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	18848305	20099593	114906923	44	3138											
NOX4	50507	broad.mit.edu	37	chr11	89073272	89073272	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatctgcaaaccaacggaAggactggatatctctgcata	15	9	8	9	1	2	0	0	0	2	0	3	3	2	3	1	3	4	2	1	3	7	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr11:89073272A>C	uc001pct.3	-	14	1644	c.1405T>G	c.(1405-1407)Ttc>Gtc	p.F469V	NOX4_uc009yvr.3_Missense_Mutation_p.F444V|NOX4_uc001pcu.3_Missense_Mutation_p.F395V|NOX4_uc001pcw.3_Missense_Mutation_p.F162V|NOX4_uc001pcx.3_Missense_Mutation_p.F122V|NOX4_uc001pcv.3_Missense_Mutation_p.F429V|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Missense_Mutation_p.F233V|NOX4_uc010rtv.2_Missense_Mutation_p.F405V|NOX4_uc009yvq.3_Missense_Mutation_p.F445V	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	469	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACCAACGGAAGGACTGGATA	0.328													C	89073272	A	C	89073272	3	2	51	1	0	0	0	0	1	0	0	0	10634	72	3	5	347	5	NOX4	11	89073272	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	68973679	89073272	45933244	45	3139											
LRP1	4035	broad.mit.edu	37	chr12	57581183	57581183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttcgagcgtgagaccgtCatcactatgtctggagatga	9	10	12	10	3	3	3	2	2	1	2	4	6	3	3	2	1	1	0	2	1	1	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr12:57581183C>T	uc001snd.3	+	41	7441	c.6975C>T	c.(6973-6975)gtC>gtT	p.V2325V		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2325					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTGAGACCGTCATCACTATGT	0.612													T	57581183	C	T	57581183	2	4	51	1	0	0	0	0	0	0	0	1	9021	813	29	2		2	LRP1	12	57581183	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		57581183	76270712	46	3140											
PCDH17	27253	broad.mit.edu	37	chr13	58207302	58207303	+	Frame_Shift_Ins	INS	-	-	A																															ggaccgcgagcaacagaatcINSaccatacgctcgtgctgact																										TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr13:58207302_58207303insA	uc001vhq.1	+	0	1514_1515	c.622_623insA	c.(622-624)cacfs	p.H208fs	PCDH17_uc010aec.1_Frame_Shift_Ins_p.H208fs	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	208	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		GCAACAGAATCACCATACGCTC	0.599													A	58207303	-	A	58207302	7	5	51	1	0	1	1	0	0	0	0	0	11588	826	29	0	624	0	PCDH17	13	58207302	Frame_Shift_Ins	INS	-	TCGA-06-0241-01A-02D-1491-08		58207302	56962576	47	3141											
MBIP	51562	broad.mit.edu	37	chr14	36789728	36789728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctctcgggagaggttggGtctgcatcttcgctccaggt	5	11	13	12	2	3	1	0	0	3	1	6	2	4	1	2	4	1	3	2	4	0	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr14:36789728G>T	uc001wtm.2	-	0	155	c.67C>A	c.(67-69)Ccc>Acc	p.P23T	MBIP_uc001wto.2_Missense_Mutation_p.P23T|MBIP_uc010tpy.1_5'UTR|MBIP_uc001wtn.2_Missense_Mutation_p.P23T	NM_016586	NP_057670	Q9NS73	MBIP1_HUMAN	Homo sapiens MAP3K12 binding inhibitory protein 1 (MBIP), transcript variant 1, mRNA.	23					histone H3 acetylation|inactivation of MAPK activity involved in osmosensory signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm|nucleolus	identical protein binding|protein kinase inhibitor activity			breast(2)|large_intestine(1)|lung(5)	8	all_cancers(3;1.55e-52)|all_epithelial(1;2.69e-62)|Breast(36;0.0505)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.28e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.0303)|all cancers(34;0.0781)	GBM - Glioblastoma multiforme(112;0.0191)		GAGAGGTTGGGTCTGCATCTT	0.587													T	36789728	G	T	36789728	3	4	51	1	0	0	0	0	1	0	0	0	9424	1261	44	4	1003	4	MBIP	14	36789728	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		36789728	70559812	48	3142											
FBN1	2200	broad.mit.edu	37	chr15	48787734	48787734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaataaaagagcctgggCtgttcttgcagactccatta	13	10	8	10	0	1	2	0	0	1	2	2	2	2	2	2	1	2	3	2	1	4	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:48787734C>T	uc001zwx.2	-	20	2866	c.2471G>A	c.(2470-2472)aGc>aAc	p.S824N		NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	824	EGF-like 13; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGAGCCTGGGCTGTTCTTGCA	0.368													T	48787734	C	T	48787734	3	4	51	1	0	0	0	0	1	0	0	0	5751	797	28	2	6328	2	FBN1	15	48787734	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		48787734	53743658	49	3143											
AKAP13	11214	broad.mit.edu	37	chr15	86123972	86123972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaaggggaacactgaCtcttccctgcaaagtgtggg	12	9	11	9	0	2	1	1	1	1	0	3	2	3	2	1	3	2	1	1	3	5	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:86123972C>T	uc002blv.1	+	6	2843	c.2673C>T	c.(2671-2673)gaC>gaT	p.D891D	AKAP13_uc002blt.1_Silent_p.D891D|AKAP13_uc002blu.1_Silent_p.D891D|AKAP13_uc010bne.1_5'Flank	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	891					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAACACTGACTCTTCCCTGC	0.512													T	86123972	C	T	86123972	2	4	51	1	0	0	0	0	0	0	0	1	449	564	20	2		2	AKAP13	15	86123972	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	37336238	86123972	16407420	50	3144											
FANCI	55215	broad.mit.edu	37	chr15	89859631	89859631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttccccttctagggcActgcatcagagcatggggga	8	11	11	11	0	3	1	1	0	2	1	4	2	4	2	2	3	2	3	2	3	1	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr15:89859631A>G	uc010bnp.1	+	37	4018	c.3928A>G	c.(3928-3930)Act>Gct	p.T1310A	FANCI_uc002bnm.1_Missense_Mutation_p.T1250A|FANCI_uc002bnn.1_Non-coding_Transcript|FANCI_uc002bnp.1_Missense_Mutation_p.T1070A|FANCI_uc002bnq.1_Missense_Mutation_p.T723A|POLG_uc002bns.4_3'UTR|POLG_uc002bnr.4_3'UTR	NM_001113378	NP_001106849	Q9NVI1	FANCI_HUMAN	Homo sapiens Fanconi anemia, complementation group I (FANCI), transcript variant 1, mRNA.	1310					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CTTCTAGGGCACTGCATCAGA	0.398								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	89859631	A	G	89859631	3	3	51	1	0	0	0	0	1	0	0	0	5718	159	6	3	4074	3	FANCI	15	89859631	Missense_Mutation	SNP	A	TCGA-06-0241-01A-02D-1491-08	3735659	89859631	12671761	51	3145											
ITGAM	3684	broad.mit.edu	37	chr16	31308885	31308885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgtggacgtggacagcaaCggcagcaccgacctggtcct	8	6	13	14	4	0	0	0	0	0	0	2	3	2	2	4	4	3	3	4	4	1	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:31308885C>T	uc002ebr.3	+	12	1505	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	ITGAM_uc002ebq.3_Silent_p.N469N|ITGAM_uc010cam.1_Missense_Mutation_p.R73W|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	469					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TGGACAGCAACGGCAGCACCG	0.637													T	31308885	C	T	31308885	2	4	51	1	0	0	0	0	0	0	0	1	7945	535	19	1		1	ITGAM	16	31308885	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		31308885	59045868	52	3146											
NOL3	8996	broad.mit.edu	37	chr16	67208778	67208778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgaggctgaagcagaaccaGagccggaactggagccagaa	14	2	14	11	2	0	4	0	1	0	3	0	7	0	6	4	3	5	2	4	3	4	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67208778G>A	uc010vjd.2	+	2	733	c.540G>A	c.(538-540)caG>caA	p.Q180Q	NOL3_uc010vjc.2_Missense_Mutation_p.E184K|NOL3_uc002erp.3_Missense_Mutation_p.E184K	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	180					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcagaaccagagccggaact	0.642													A	67208778	G	A	67208778	2	1	51	1	0	0	0	0	0	0	0	1	10599	943	33	2		2	NOL3	16	67208778	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	35899893	67208778	23145975	53	3147											
KCTD19	146212	broad.mit.edu	37	chr16	67337179	67337179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaagcagtagtgcacCtcctcttctgtgtctaacag	9	10	11	11	0	3	0	0	0	3	0	4	1	4	1	2	2	3	4	2	2	3	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr16:67337179C>T	uc002esu.2	-	3	564	c.513G>A	c.(511-513)gaG>gaA	p.E171E	KCTD19_uc002est.2_5'UTR|KCTD19_uc010vjj.1_5'UTR	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	171						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		AGTAGTGCACCTCCTCTTCTG	0.567													T	67337179	C	T	67337179	2	4	51	1	0	0	0	0	0	0	0	1	8164	680	24	2		2	KCTD19	16	67337179	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	128401	67337179	23017574	54	3148											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	51	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		7577538	73617672	55	3149											
THEG	51298	broad.mit.edu	37	chr19	367156	367156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagggtggctggggccttCggctttgacaactggaggat	8	9	17	7	1	0	2	0	1	0	1	1	4	0	4	1	7	1	2	1	7	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:367156C>T	uc002lol.3	-	6	865	c.822G>A	c.(820-822)ccG>ccA	p.P274P	THEG_uc002lom.3_Silent_p.P250P	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	274					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding	p.K273T(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CTGGGGCCTTCGGCTTTGACA	0.572													T	367156	C	T	367156	2	4	51	1	0	0	0	0	0	0	0	1	15957	871	31	1		1	THEG	19	367156	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08		367156	58761827	56	3150											
ELSPBP1	64100	broad.mit.edu	37	chr19	48511941	48511941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagatgacccgatggtccaGttacctgttgggatggacaa	11	9	12	9	1	0	2	0	1	0	1	1	5	1	4	3	3	1	2	3	3	3	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:48511941G>C	uc002pht.3	+	1	195	c.17G>C	c.(16-18)aGt>aCt	p.S6T		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	6					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		CGATGGTCCAGTTACCTGTTG	0.468													C	48511941	G	C	48511941	3	2	51	1	0	0	0	0	1	0	0	0	5124	1029	36	4	19	4	ELSPBP1	19	48511941	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	48144785	48511941	10617042	57	3151											
TNNT1	7138	broad.mit.edu	37	chr19	55648471	55648471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccccacagcacctacCggagctgttcctcccccatg	7	6	8	20	1	0	0	0	0	0	0	2	2	2	1	8	1	4	3	8	1	1	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:55648471C>T	uc002qjb.4	-	11	700	c.611_splice	c.e11+1	p.R204_splice	TNNT1_uc002qjc.4_Splice_Site_p.R204_splice|TNNT1_uc002qje.4_Splice_Site_p.R193_splice|TNNT1_uc002qjd.4_Splice_Site_p.R193_splice	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	204					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CAGCACCTACCGGAGCTGTTC	0.622													T	55648471	C	T	55648471	3	4	51	1	0	0	0	0	1	0	0	0	16430	666	23	1	241	1	TNNT1	19	55648471	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	7136530	55648471	3480512	58	3152											
PEG3	5178	broad.mit.edu	37	chr19	57327999	57327999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctaaaggtttccccgCgctcacgttcacgttcacgt	6	11	10	14	5	3	0	3	0	0	0	4	0	4	0	3	2	0	4	3	2	2	4			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr19:57327999C>T	uc002qnu.2	-	6	2162	c.1811G>A	c.(1810-1812)cGc>cAc	p.R604H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.R575H|PEG3_uc002qnv.2_Missense_Mutation_p.R604H|PEG3_uc002qnw.2_Missense_Mutation_p.R480H|PEG3_uc002qnx.2_Missense_Mutation_p.R478H|PEG3_uc010etr.2_Missense_Mutation_p.R604H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	604					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R604H(2)|p.R604C(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GGTTTCCCCGCGCtcacgttc	0.458													T	57327999	C	T	57327999	3	4	51	1	0	0	0	0	1	0	0	0	11796	768	27	1	2959	1	PEG3	19	57327999	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	1679528	57327999	1800984	59	3153											
CHD6	84181	broad.mit.edu	37	chr20	40045338	40045338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggttaataccggggtggGcagtgtgcctgagggctcat	6	10	17	8	1	1	1	1	1	0	0	1	1	1	1	2	5	2	4	2	5	2	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:40045338G>A	uc002xka.1	-	32	6554	c.6376C>T	c.(6376-6378)Ccc>Tcc	p.P2126S	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2126					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				ACCGGGGTGGGCAGTGTGCCT	0.572													A	40045338	G	A	40045338	3	1	51	1	0	0	0	0	1	0	0	0	3359	1203	42	2	1791	2	CHD6	20	40045338	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08		40045338	22980182	60	3154											
RTEL1	51750	broad.mit.edu	37	chr20	62326129	62326129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacagtgggggtctggaGtgcccagagcagggaagcag	11	4	17	9	0	1	1	0	0	1	1	1	3	1	3	2	4	4	2	2	4	2	0			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chr20:62326129G>T	uc021wge.1	+	30	3315	c.3145G>T	c.(3145-3147)Gtg>Ttg	p.V1049L	RTEL1_uc011abc.2_Non-coding_Transcript|RTEL1_uc002yfu.2_Missense_Mutation_p.V1049L|RTEL1_uc011abd.2_Missense_Mutation_p.V1073L|RTEL1_uc002yfw.3_Non-coding_Transcript|RTEL1_uc011abe.1_Missense_Mutation_p.V826L|RTEL1_uc002yfx.1_Missense_Mutation_p.V294L|TNFRSF6B_uc002yfy.3_5'UTR|TNFRSF6B_uc002yfz.3_5'Flank	NM_016434	NP_057518	Q9NZ71	RTEL1_HUMAN	Homo sapiens regulator of telomere elongation helicase 1 (RTEL1), transcript variant 1, mRNA.	1049					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GGGGTCTGGAGTGCCCAGAGC	0.687													T	62326129	G	T	62326129	3	4	51	1	0	0	0	0	1	0	0	0	13811	1029	36	4	3267	4	RTEL1	20	62326129	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	22280791	62326129	699391	61	3155											
MAGEB4	4115	broad.mit.edu	37	chrX	30260976	30260976	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttatctttggggaacccCgaaagctcatcacccaagat	12	9	7	13	1	3	1	2	0	1	1	3	3	3	2	4	2	2	1	4	2	4	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30260976C>T	uc004dcb.3	+	0	920	c.724C>T	c.(724-726)Cga>Tga	p.R242*	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	242	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGGGGAACCCCGAAAGCTCAT	0.488													T	30260976	C	T	30260976	4	4	51	1	0	0	0	0	0	1	0	0	9253	644	23	1	726	1	MAGEB4	23	30260976	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08		30260976	125009584	62	3156											
TAB3	257397	broad.mit.edu	37	chrX	30872355	30872355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggttctggtgctgcagagCgctcttcttggtccactaaa	7	13	11	10	1	3	1	0	0	3	1	4	1	4	1	1	3	3	4	1	3	3	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:30872355C>T	uc004dcj.3	-	5	2090	c.1427G>A	c.(1426-1428)cGc>cAc	p.R476H	TAB3_uc004dck.3_Missense_Mutation_p.R476H|TAB3_uc010ngl.3_Missense_Mutation_p.R476H	NM_152787	NP_690000	Q8N5C8	TAB3_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 3 (TAB3), mRNA.	476					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						TGCTGCAGAGCGCTCTTCTTG	0.443													T	30872355	C	T	30872355	3	4	51	1	0	0	0	0	1	0	0	0	15594	768	27	1	735	1	TAB3	23	30872355	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	611379	30872355	124398205	63	3157											
RGN	9104	broad.mit.edu	37	chrX	46951551	46951551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaaatgtatgtgacctgCgcccgggatgggatggaccc	8	9	14	10	2	1	2	0	2	1	0	1	5	1	5	3	3	1	1	3	3	2	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:46951551C>G	uc004dgz.1	+	6	1755	c.786C>G	c.(784-786)tgC>tgG	p.C262W	RGN_uc004dha.1_Missense_Mutation_p.C262W|RGN_uc010nho.1_Missense_Mutation_p.C209W|RGN_uc010nhp.1_Missense_Mutation_p.C190W	NM_152869	NP_690608	Q15493	RGN_HUMAN	Homo sapiens regucalcin (senescence marker protein-30) (RGN), transcript variant 2, mRNA.	262					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						ATGTGACCTGCGCCCGGGATG	0.468													G	46951551	C	G	46951551	3	3	51	1	0	0	0	0	1	0	0	0	13370	776	27	4	804	4	RGN	23	46951551	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	16079196	46951551	108319009	64	3158											
USP11	8237	broad.mit.edu	37	chrX	47098522	47098522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcatacgtgcagggagGggaccaggactccagcacct	10	4	16	11	1	0	0	0	0	0	0	1	4	1	4	3	6	3	3	3	6	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:47098522G>A	uc004dhp.3	+	1	359	c.359G>A	c.(358-360)gGg>gAg	p.G120E	USP11_uc004dhq.3_5'UTR	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	120	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GTGCAGGGAGGGGACCAGGAC	0.557													A	47098522	G	A	47098522	3	1	51	1	0	0	0	0	1	0	0	0	17144	1232	43	2	365	2	USP11	23	47098522	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	146971	47098522	108172038	65	3159											
KLF8	11279	broad.mit.edu	37	chrX	56291902	56291902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacccttgtggtgtccaCgtcaacatctgacatgagca	10	9	9	13	1	2	3	1	2	1	1	3	3	3	3	3	1	2	1	3	1	1	1	rs143280924		TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56291902C>A	uc004dur.3	+	2	1317	c.371C>A	c.(370-372)aCg>aAg	p.T124K	KLF8_uc010nkg.2_Missense_Mutation_p.T119K|KLF8_uc011mop.2_Missense_Mutation_p.T124K|KLF8_uc010nkh.3_Non-coding_Transcript	NM_007250	NP_009181	O95600	KLF8_HUMAN	Homo sapiens Kruppel-like factor 8 (KLF8), transcript variant 1, mRNA.	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T124T(1)		kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						GTGGTGTCCACGTCAACATCT	0.542													A	56291902	C	A	56291902	3	1	51	1	0	0	0	0	1	0	0	0	8410	536	19	4	381	4	KLF8	23	56291902	Missense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	9193380	56291902	98978658	66	3160											
UBQLN2	29978	broad.mit.edu	37	chrX	56592046	56592046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctgccgaatccagaagtCagatttcagcaacaactgga	14	7	9	11	1	2	2	2	0	0	2	3	4	3	3	2	1	5	2	2	1	4	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:56592046C>T	uc004dus.3	+	0	2021	c.1740C>T	c.(1738-1740)gtC>gtT	p.V580V	UBQLN2_uc011moq.1_Silent_p.V468V	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	580						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						ATCCAGAAGTCAGATTTCAGC	0.512													T	56592046	C	T	56592046	2	4	51	1	0	0	0	0	0	0	0	1	16999	813	29	2		2	UBQLN2	23	56592046	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	300144	56592046	98678514	67	3161											
MTMR8	55613	broad.mit.edu	37	chrX	63445208	63445208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcagtgaaaagtggcGtctgtgccttgacatccaag	11	9	12	9	1	1	3	0	3	1	0	2	3	2	3	2	1	2	1	2	1	3	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:63445208G>A	uc011mou.2	-	9	1538	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	MTMR8_uc004dvq.2_Missense_Mutation_p.T99M|MTMR8_uc004dvr.2_Missense_Mutation_p.T108M	NM_017677	NP_060147	Q96EF0	MTMR8_HUMAN	Homo sapiens myotubularin related protein 8 (MTMR8), mRNA.	0	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GAAAAGTGGCGTCTGTGCCTT	0.517													A	63445208	G	A	63445208	3	1	51	1	0	0	0	0	1	0	0	0	10025	1145	40	1		1	MTMR8	23	63445208	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	6853162	63445208	91825352	68	3162											
KIF4A	24137	broad.mit.edu	37	chrX	69595167	69595167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaaaggaatccacagagcGtactgtctccaaactgaacc	15	7	7	12	1	1	2	0	1	1	1	3	3	2	3	3	1	4	1	3	1	6	2			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:69595167G>A	uc004dyg.3	+	16	2035	c.1892G>A	c.(1891-1893)cGt>cAt	p.R631H	KIF4A_uc010nkw.3_Missense_Mutation_p.R631H|KIF4A_uc004dyf.2_Missense_Mutation_p.R631H	NM_012310	NP_036442	O95239	KIF4A_HUMAN	Homo sapiens kinesin family member 4A (KIF4A), mRNA.	631					anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						TCCACAGAGCGTACTGTCTCC	0.423													A	69595167	G	A	69595167	3	1	51	1	0	0	0	0	1	0	0	0	8361	1145	40	1	1954	1	KIF4A	23	69595167	Missense_Mutation	SNP	G	TCGA-06-0241-01A-02D-1491-08	6149959	69595167	85675393	69	3163											
ATRX	546	broad.mit.edu	37	chrX	76937238	76937238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttttagatgaagttctTtgcttcttctttttattatc	6	25	4	6	0	4	2	0	1	4	1	5	2	4	2	0	0	1	2	0	0	4	12			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:76937238T>C	uc004ecp.4	-	8	3742	c.3510A>G	c.(3508-3510)caA>caG	p.Q1170Q	ATRX_uc004ecq.4_Silent_p.Q1132Q|ATRX_uc004eco.4_Silent_p.Q955Q|ATRX_uc004ecr.2_Silent_p.Q1102Q|ATRX_uc010nlx.1_Silent_p.Q1141Q|ATRX_uc010nly.1_Silent_p.Q1115Q	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1170					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)	ATGAAGTTCTTTGCTTCTTCT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76937238	T	C	76937238	2	2	51	1	0	0	0	0	0	0	0	1	1213	1838	64	3		3	ATRX	23	76937238	Silent	SNP	T	TCGA-06-0241-01A-02D-1491-08	7342071	76937238	78333322	70	3164											
GPR174	84636	broad.mit.edu	37	chrX	78427380	78427380	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttgacccagtcatataCtacttttccactaatgagtt	10	16	5	10	0	2	2	1	2	1	0	3	2	3	2	2	0	2	1	2	0	4	8			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:78427380C>T	uc004edg.1	+	0	912	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	292						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CAGTCATATACTACTTTTCCA	0.398										HNSCC(63;0.18)			T	78427380	C	T	78427380	2	4	51	1	0	0	0	0	0	0	0	1	6726	576	20	2		2	GPR174	23	78427380	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	1490142	78427380	76843180	71	3165											
COL4A6	1288	broad.mit.edu	37	chrX	107412771	107412771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggcttccctggagctccGatgccaattcctggatatcc	6	10	9	16	2	0	0	0	0	0	0	4	3	4	2	6	3	2	2	6	3	2	3			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:107412771G>A	uc004enw.4	-	36	3751	c.3648C>T	c.(3646-3648)atC>atT	p.I1216I	COL4A6_uc004env.4_Silent_p.I1215I|COL4A6_uc011msn.2_Silent_p.I1191I|COL4A6_uc010npk.3_Silent_p.I1191I	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1216	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CTGGAGCTCCGATGCCAATTC	0.577									Alport syndrome with Diffuse Leiomyomatosis				A	107412771	G	A	107412771	2	1	51	1	0	0	0	0	0	0	0	1	3726	1048	37	1		1	COL4A6	23	107412771	Silent	SNP	G	TCGA-06-0241-01A-02D-1491-08	28985391	107412771	47857789	72	3166											
SLC9A6	10479	broad.mit.edu	37	chrX	135081058	135081058	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgatgaaggtaacgggaCaacttgcaggagatttttac	12	10	12	7	2	0	3	0	2	0	1	0	5	0	4	0	3	4	3	0	3	4	5			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:135081058C>T	uc004ezk.3	+	4	800	c.724C>T	c.(724-726)Caa>Taa	p.Q242*	SLC9A6_uc011mvx.2_Nonsense_Mutation_p.Q190*|SLC9A6_uc004ezj.3_Nonsense_Mutation_p.Q210*	NM_001042537	NP_001036002	Q92581	SL9A6_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 6 (SLC9A6), transcript variant 1, mRNA.	210					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity	p.E241*(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					GGTAACGGGACAACTTGCAGG	0.353													T	135081058	C	T	135081058	4	4	51	1	0	0	0	0	0	1	0	0	14812	479	17	2	742	2	SLC9A6	23	135081058	Nonsense_Mutation	SNP	C	TCGA-06-0241-01A-02D-1491-08	27668287	135081058	20189502	73	3167											
PLXNB3	5365	broad.mit.edu	37	chrX	153033730	153033730	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagtcgtacccctgtggCgacgagcacacccccagccc	7	4	10	20	4	0	0	0	0	0	0	1	3	0	0	6	1	3	2	6	1	1	1			TCGA-06-0241-01A-02D-1491-08	TCGA-06-0241-10A-01D-1491-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dd4035a-c800-41b0-85c9-02531d2910ed	4b352295-bcb7-457a-80a0-6369bb7f8ff9	g.chrX:153033730C>T	uc010nuk.2	+	4	1453	c.1182C>T	c.(1180-1182)ggC>ggT	p.G394G	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.G53G|PLXNB3_uc004fii.2_Silent_p.G371G|PLXNB3_uc011mzd.1_Silent_p.G10G	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	371	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCCCTGTGGCGACGAGCACA	0.687													T	153033730	C	T	153033730	2	4	51	1	0	0	0	0	0	0	0	1	12202	755	27	1		1	PLXNB3	23	153033730	Silent	SNP	C	TCGA-06-0241-01A-02D-1491-08	17952672	153033730	2236830	74	3168											
UBE4B	10277	broad.mit.edu	37	chr1	10192468	10192468	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtattttgttaaatggCgaaacccgtgaggctgctct	10	13	10	8	2	1	1	0	1	1	0	1	2	1	1	1	2	2	4	1	2	5	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:10192468C>G	uc021ogc.1	+	15	2794	c.2106C>G	c.(2104-2106)ggC>ggG	p.G702G	UBE4B_uc001aqs.4_Silent_p.G651G|UBE4B_uc001aqr.4_Silent_p.G522G|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Silent_p.G106G	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	651					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		TGTTAAATGGCGAAACCCGTG	0.373													G	10192468	C	G	10192468	2	3	52	1	0	0	0	0	0	0	0	1	16985	755	27	4		4	UBE4B	1	10192468	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		10192468	239058153	1	3169											
GRIK3	2899	broad.mit.edu	37	chr1	37307528	37307528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgatttccgaaacatgaCgaagggctcctcctgcagag	10	9	11	11	2	1	3	0	2	1	1	4	5	4	3	3	1	2	2	3	1	2	1	rs114307108	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:37307528C>T	uc001caz.2	-	9	1474	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I	GRIK3_uc001cba.1_Missense_Mutation_p.V447I	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	447					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGAAACATGACGAAGGGCTCC	0.577													T	37307528	C	T	37307528	3	4	52	1	0	0	0	0	1	0	0	0	6830	536	19	1	1448	1	GRIK3	1	37307528	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	27115060	37307528	211943093	2	3170											
COL24A1	255631	broad.mit.edu	37	chr1	86340334	86340334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaagggggcactcacccGtaaacctggttccccagttc	8	10	9	14	1	2	0	2	0	0	0	4	0	3	0	4	3	1	4	4	3	3	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:86340334G>A	uc001dlj.3	-	34	3211	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	COL24A1_uc001dli.3_Missense_Mutation_p.R182W|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.R346W|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1046	Collagen-like 9.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCACTCACCCGTAAACCTGGT	0.408													A	86340334	G	A	86340334	3	1	52	1	0	0	0	0	1	0	0	0	3714	1144	40	1	2112	1	COL24A1	1	86340334	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	49032806	86340334	162910287	3	3171											
CFH	10877	broad.mit.edu	37	chr1	196884116	196884116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgtgggcctcctccacCtattagcaatggtgatacca	11	10	9	11	0	0	1	0	1	0	0	2	1	2	1	5	2	2	1	5	2	5	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:196884116C>A	uc001gtp.3	+	8	1525	c.1388C>A	c.(1387-1389)cCt>cAt	p.P463H	CFH_uc021pgt.1_Missense_Mutation_p.P86H|CFH_uc009wyy.3_Missense_Mutation_p.P462H|CFH_uc001gto.3_Missense_Mutation_p.P216H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	816	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CCTCCTCCACCTATTAGCAAT	0.378													A	196884116	C	A	196884116	3	1	52	1	0	0	0	0	1	0	0	0	3313	681	24	4		4	CFH	1	196884116	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	110543782	196884116	52366505	4	3172											
CENPF	1063	broad.mit.edu	37	chr1	214815836	214815836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctttggctccattggaCgagagtaattcctacgagca	9	12	11	9	2	1	1	0	0	1	1	3	4	3	2	2	2	2	3	2	2	2	5	rs139914723	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr1:214815836C>T	uc001hkm.3	+	11	4329	c.4155C>T	c.(4153-4155)gaC>gaT	p.D1385D		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1482					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CTCCATTGGACGAGAGTAATT	0.423													T	214815836	C	T	214815836	2	4	52	1	0	0	0	0	0	0	0	1	3261	535	19	1		1	CENPF	1	214815836	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	17931720	214815836	34434785	5	3173											
GKN1	56287	broad.mit.edu	37	chr2	69207121	69207121	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaacaaagtcgatgaccTgagcaagttcggaaaaaaca	18	5	8	10	2	0	2	0	2	0	0	2	4	0	3	2	1	3	2	2	1	6	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:69207121T>A	uc002sfc.3	+	4	497	c.434T>A	c.(433-435)cTg>cAg	p.L145Q		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	145	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GTCGATGACCTGAGCAAGTTC	0.502													A	69207121	T	A	69207121	3	1	52	1	0	0	0	0	1	0	0	0	6480	1580	55	5	452	5	GKN1	2	69207121	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		69207121	173992252	6	3174											
FAM123C	205147	broad.mit.edu	37	chr2	131520943	131520943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaccccagcgagggtcCtcttggccccagcccagatg	7	5	11	18	2	1	1	0	0	1	1	2	3	2	1	7	2	2	0	7	2	0	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr2:131520943C>A	uc021voy.1	+	0	1298	c.1298C>A	c.(1297-1299)cCt>cAt	p.P433H	FAM123C_uc002trw.2_Missense_Mutation_p.P433H|FAM123C_uc010fmv.2_Missense_Mutation_p.P433H|FAM123C_uc010fms.1_Missense_Mutation_p.P433H|FAM123C_uc010fmt.1_Missense_Mutation_p.P433H|FAM123C_uc010fmu.1_Missense_Mutation_p.P433H	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	433										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		AGCGAGGGTCCTCTTGGCCCC	0.657													A	131520943	C	A	131520943	3	1	52	1	0	0	0	0	1	0	0	0	5469	681	24	4	1300	4	FAM123C	2	131520943	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	62313822	131520943	111678430	7	3175											
LRIG1	26018	broad.mit.edu	37	chr3	66449417	66449417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccaggccttccagcccCgagaatgctctcttagccac	7	9	8	17	1	1	1	0	0	1	1	4	2	3	1	6	1	4	2	6	1	2	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr3:66449417C>T	uc003dmx.3	-	9	1223	c.1209G>A	c.(1207-1209)tcG>tcA	p.S403S	LRIG1_uc011bfu.2_Silent_p.S23S|LRIG1_uc003dmw.3_Silent_p.S69S|LRIG1_uc010hnz.3_Intron|LRIG1_uc010hoa.3_Silent_p.S427S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	403						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CTTCCAGCCCCGAGAATGCTC	0.522													T	66449417	C	T	66449417	2	4	52	1	0	0	0	0	0	0	0	1	9014	639	23	1		1	LRIG1	3	66449417	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		66449417	131573013	8	3176											
FGFR3	2261	broad.mit.edu	37	chr4	1808950	1808951	+	Frame_Shift_Ins	INS	-	-	C																															tgtttgcccacgacctgctgINScccccggccccacccagcag																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:1808950_1808951insC	uc003gdr.3	+	17	2638_2639	c.2382_2383insC	c.(2380-2385)ctgcccfs	p.L794fs	FGFR3_uc003gdu.2_Frame_Shift_Ins_p.L796fs|FGFR3_uc003gds.3_Frame_Shift_Ins_p.L682fs|FGFR3_uc003gdq.3_Frame_Shift_Ins_p.A772fs	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	794					bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.P795fs*139(2)|p.L794fs*23(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	ACGACCTGCTGCCCCCGGCCCC	0.688		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				C	1808951	-	C	1808950	7	5	52	1	0	1	1	0	0	0	0	0	5916	1306	46	0	2603	0	FGFR3	4	1808950	Frame_Shift_Ins	INS	-	TCGA-06-0644-01A-02D-1492-08		1808950	189345326	9	3177											
DRD5	1816	broad.mit.edu	37	chr4	9784011	9784011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgacgtctgggtggccttcGacatcatgtgctccactgcc	5	10	12	14	3	2	0	1	0	1	0	4	2	3	0	3	2	2	1	3	2	0	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:9784011G>A	uc003gmb.4	+	0	754	c.358G>A	c.(358-360)Gac>Aac	p.D120N		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	120					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGTGGCCTTCGACATCATGTG	0.617													A	9784011	G	A	9784011	3	1	52	1	0	0	0	0	1	0	0	0	4799	1058	37	1	360	1	DRD5	4	9784011	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	7975061	9784011	181370265	10	3178											
KIT	3815	broad.mit.edu	37	chr4	55561758	55561758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagacttaatagtccgcGtgggcgacgagattaggctg	11	9	13	8	4	1	2	1	0	0	2	2	4	2	2	1	2	0	1	1	2	4	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:55561758G>A	uc010igr.3	+	1	235	c.148G>A	c.(148-150)Gtg>Atg	p.V50M	KIT_uc010igs.3_Missense_Mutation_p.V50M	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	50	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.V50M(4)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AATAGTCCGCGTGGGCGACGA	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55561758	G	A	55561758	3	1	52	1	0	0	0	0	1	0	0	0	8387	1145	40	1	154	1	KIT	4	55561758	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	45777747	55561758	135592518	11	3179											
SLC4A4	8671	broad.mit.edu	37	chr4	72338689	72338689	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgccacctgacccaggTgagggcattacgctttgtgt	6	12	13	10	1	0	2	0	2	0	0	0	2	0	2	3	2	2	2	3	2	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:72338689T>C	uc010iic.3	+	14	2020	c.1903_splice	c.e14+2	p.A635_splice	SLC4A4_uc003hfy.3_Splice_Site_p.A635_splice|SLC4A4_uc010iib.3_Splice_Site_p.A635_splice|SLC4A4_uc003hfz.3_Splice_Site_p.A635_splice|SLC4A4_uc003hgc.4_Splice_Site_p.A591_splice|SLC4A4_uc010iid.3_Intron|SLC4A4_uc003hga.2_Silent_p.G513G|SLC4A4_uc003hgb.3_Silent_p.G591G	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	635						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGACCCAGGTGAGGGCATTA	0.463													C	72338689	T	C	72338689	5	2	52	1	0	0	0	0	0	0	1	0	14750	1710	59	3	2076	3	SLC4A4	4	72338689	Splice_Site	SNP	T	TCGA-06-0644-01A-02D-1492-08	16776931	72338689	118815587	12	3180											
NUDT9	53343	broad.mit.edu	37	chr4	88362984	88362984	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttgtttttccagaaaTcctgcaggacggactggact	8	16	9	8	1	0	1	0	0	0	1	2	4	2	4	2	3	1	2	2	3	1	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr4:88362984T>C	uc003hqq.3	+	3	777	c.447T>C	c.(445-447)aaT>aaC	p.N149N	NUDT9_uc010ikl.3_Silent_p.N117N|NUDT9_uc003hqr.3_Silent_p.N99N	NM_024047	NP_076952	Q9BW91	NUDT9_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 9 (NUDT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	149						mitochondrion	ADP-ribose diphosphatase activity			endometrium(1)|large_intestine(4)|lung(6)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000937)		TTTCCAGAAATCCTGCAGGAC	0.418													C	88362984	T	C	88362984	2	2	52	1	0	0	0	0	0	0	0	1	10822	1432	50	3		3	NUDT9	4	88362984	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08	16024295	88362984	102791292	13	3181											
PRDM9	56979	broad.mit.edu	37	chr5	23524499	23524499	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggccttccagtaccAcaggcagatcttctatagaa	10	10	9	12	0	2	2	0	0	2	2	3	2	3	2	4	3	1	2	4	3	4	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:23524499A>T	uc003jgo.3	+	9	1189	c.1007A>T	c.(1006-1008)cAc>cTc	p.H336L		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	336	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TTCCAGTACCACAGGCAGATC	0.537										HNSCC(3;0.000094)			T	23524499	A	T	23524499	3	4	52	1	0	0	0	0	1	0	0	0	12549	159	6	5	1041	5	PRDM9	5	23524499	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08		23524499	157390761	14	3182											
CDH9	1007	broad.mit.edu	37	chr5	26906907	26906907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactatttccatagttggcGtcatctgcatctgttgcagt	7	15	9	10	1	3	0	1	0	2	0	4	0	4	0	1	1	2	5	1	1	2	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:26906907G>A	uc003jgs.1	-	3	733	c.564C>T	c.(562-564)gaC>gaT	p.D188D	CDH9_uc010iug.3_Silent_p.D188D	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	188	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATAGTTGGCGTCATCTGCAT	0.403													A	26906907	G	A	26906907	2	1	52	1	0	0	0	0	0	0	0	1	3147	1136	40	1		1	CDH9	5	26906907	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	3382408	26906907	154008353	15	3183											
FBN2	2201	broad.mit.edu	37	chr5	127712445	127712445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtacagtaacgcccatttgGagccaagacaaatcctggtt	13	9	9	10	1	0	1	0	0	0	1	1	2	1	2	3	2	3	3	3	2	4	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:127712445G>C	uc003kuu.3	-	13	2390	c.1951C>G	c.(1951-1953)Cca>Gca	p.P651A	FBN2_uc003kuv.2_Missense_Mutation_p.P618A	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	651	EGF-like 9; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CGCCCATTTGGAGCCAAGACA	0.398													C	127712445	G	C	127712445	3	2	52	1	0	0	0	0	1	0	0	0	5752	1174	41	4	6995	4	FBN2	5	127712445	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	100805538	127712445	53202815	16	3184											
PCDHB11	56125	broad.mit.edu	37	chr5	140580521	140580521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggaagacctcccattcGtgctaaaatcttcagttgag	10	12	8	11	2	2	2	1	1	1	1	5	3	4	3	3	1	1	2	3	1	3	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr5:140580521G>A	uc003liy.3	+	0	1174	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M		NM_018931	NP_061754	Q9Y5F2	PCDBB_HUMAN	Homo sapiens protocadherin beta 11 (PCDHB11), mRNA.	392	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.V392M(2)		NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCCATTCGTGCTAAAATC	0.453													A	140580521	G	A	140580521	3	1	52	1	0	0	0	0	1	0	0	0	11612	1145	40	1	1176	1	PCDHB11	5	140580521	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	12868076	140580521	40334739	17	3185											
PRSS16	10279	broad.mit.edu	37	chr6	27219612	27219612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagcagcattgcggacGgagctgagcgcttgcgggcc	7	6	16	12	4	1	1	1	1	0	0	1	3	1	3	1	3	6	5	1	3	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:27219612G>A	uc003nja.3	+	7	816	c.801G>A	c.(799-801)acG>acA	p.T267T	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Intron|PRSS16_uc010jqq.1_Intron|PRSS16_uc010jqr.1_Intron|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	267					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CATTGCGGACGGAGCTGAGCG	0.697													A	27219612	G	A	27219612	2	1	52	1	0	0	0	0	0	0	0	1	12701	1103	39	1		1	PRSS16	6	27219612	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		27219612	143895455	18	3186											
PIM1	5292	broad.mit.edu	37	chr6	37138555	37138557	+	In_Frame_Del	DEL	AGA	AGA	-																															tccccctttcctaggcaaggAgaaggagcccctggagtcgc																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:37138555_37138557delAGA	uc003onk.3	+	1	519_521	c.89_91delAGA	c.(88-93)gagaag>gag	p.K31del	PIM1_uc011dtw.2_5'Flank	NM_002648	NP_002639	P11309	PIM1_HUMAN	Homo sapiens pim-1 oncogene (PIM1), transcript variant 1, mRNA.	122					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	CTAGGCAAGGAGAAGGAGCCCCT	0.714			T	BCL6	NHL								-	37138557	AGA	-	37138555	7	5	52	1	0	1	0	1	0	0	0	0	12004	304	11	0	95	0	PIM1	6	37138555	In_Frame_Del	DEL	AGA	TCGA-06-0644-01A-02D-1492-08	9918943	37138555	133976512	19	3187											
KCNK5	8645	broad.mit.edu	37	chr6	39162433	39162433	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtcccccgaagaacttGcccagggcactgatccacgt	9	6	10	16	3	0	2	0	1	0	1	2	3	2	2	4	1	2	2	4	1	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:39162433G>T	uc003oon.3	-	2	766	c.402C>A	c.(400-402)ggC>ggA	p.G134G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	134					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						CGAAGAACTTGCCCAGGGCAC	0.597													T	39162433	G	T	39162433	2	4	52	1	0	0	0	0	0	0	0	1	8127	1306	46	4		4	KCNK5	6	39162433	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	2023878	39162433	131952634	20	3188											
HTR1E	3354	broad.mit.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	6	13	7	15	3	2	2	0	2	2	0	5	3	3	3	5	1	1	1	5	1	1	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:87725488G>A	uc003pli.3	+	1	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	HTR1E_uc021zcg.1_Missense_Mutation_p.V146I	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	146					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.V146I(4)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582													A	87725488	G	A	87725488	3	1	52	1	0	0	0	0	1	0	0	0	7497	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	48563055	87725488	83389579	21	3189											
PTPRK	5796	broad.mit.edu	37	chr6	128319982	128319982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtctggtaaggggattccgtCccctcacagaggtagcgagg	8	8	15	10	2	2	1	1	0	1	1	4	3	4	2	3	5	1	2	3	5	2	3	rs141454620	by1000genomes	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr6:128319982C>T	uc003qbk.3	-	15	2926	c.2559G>A	c.(2557-2559)ggG>ggA	p.G853G	PTPRK_uc010kfc.3_Silent_p.G854G|PTPRK_uc003qbj.3_Silent_p.G854G|PTPRK_uc011ebu.2_Silent_p.G870G|PTPRK_uc010kfd.1_Silent_p.G79G	NM_002844	NP_002835	Q15262	PTPRK_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, K (PTPRK), transcript variant 2, mRNA.	853					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GGGATTCCGTCCCCTCACAGA	0.478													T	128319982	C	T	128319982	2	4	52	1	0	0	0	0	0	0	0	1	12893	842	30	2		2	PTPRK	6	128319982	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	40594494	128319982	42795085	22	3190											
SKAP2	8935	broad.mit.edu	37	chr7	26766511	26766511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactacaacctgatatataCgtttatcaggagcagagatt	16	11	7	7	1	1	2	1	1	0	1	1	4	1	3	1	1	5	2	1	1	7	7			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:26766511C>T	uc003syc.3	-	6	877	c.584G>A	c.(583-585)cGt>cAt	p.R195H	SKAP2_uc011jzi.2_Missense_Mutation_p.R23H|SKAP2_uc011jzj.2_Missense_Mutation_p.R180H	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	195	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.R195H(2)|p.R195G(1)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CTGATATATACGTTTATCAGG	0.303													T	26766511	C	T	26766511	3	4	52	1	0	0	0	0	1	0	0	0	14450	536	19	1	519	1	SKAP2	7	26766511	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		26766511	132372152	23	3191											
GRB10	2887	broad.mit.edu	37	chr7	50660761	50660761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttggtgttcccgtcaTctaggctgaagaacgtctgc	9	12	11	9	2	3	3	1	1	2	2	4	3	4	3	1	2	2	2	1	2	4	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:50660761T>C	uc003tpi.2	-	15	1719	c.1673A>G	c.(1672-1674)gAt>gGt	p.D558G	GRB10_uc003tph.3_Missense_Mutation_p.D500G|GRB10_uc003tpj.2_Missense_Mutation_p.D512G|GRB10_uc003tpk.2_Missense_Mutation_p.D558G|GRB10_uc010kzb.2_Missense_Mutation_p.D500G|GRB10_uc003tpl.2_Missense_Mutation_p.D552G|GRB10_uc003tpm.2_Missense_Mutation_p.D500G	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	558	SH2.		D -> H (in dbSNP:rs11768472).		insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GTTCCCGTCATCTAGGCTGAA	0.547									Russell-Silver syndrome				C	50660761	T	C	50660761	3	2	52	1	0	0	0	0	1	0	0	0	6811	1435	50	3	115	3	GRB10	7	50660761	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08	23894250	50660761	108477902	24	3192											
PCLO	27445	broad.mit.edu	37	chr7	82544904	82544904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaagctctctgtccctctaCgaaattcctgtttaatctga	9	15	5	12	1	3	1	0	1	3	0	6	2	5	1	2	0	2	2	2	0	4	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:82544904C>T	uc003uhx.2	-	6	12687	c.12398G>A	c.(12397-12399)cGt>cAt	p.R4133H	PCLO_uc003uhv.2_Missense_Mutation_p.R4133H|PCLO_uc010lec.3_Missense_Mutation_p.R1098H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTCCCTCTACGAAATTCCTG	0.408													T	82544904	C	T	82544904	3	4	52	1	0	0	0	0	1	0	0	0	11659	536	19	1	3123	1	PCLO	7	82544904	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	31884143	82544904	76593759	25	3193											
ABCB4	5244	broad.mit.edu	37	chr7	87083895	87083895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctggatttagcagcgaCaaggaaaagttcactaaatt	14	11	9	7	1	1	0	1	0	0	0	1	3	1	2	1	2	3	2	1	2	6	6			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:87083895C>T	uc003uiv.1	-	4	376	c.300G>A	c.(298-300)ttG>ttA	p.L100L	ABCB4_uc003uiw.1_Silent_p.L100L|ABCB4_uc003uix.1_Silent_p.L100L|ABCB4_uc003uiy.3_Silent_p.L100L	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	100	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TTAGCAGCGACAAGGAAAAGT	0.259													T	87083895	C	T	87083895	2	4	52	1	0	0	0	0	0	0	0	1	43	477	17	2		2	ABCB4	7	87083895	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	4538991	87083895	72054768	26	3194											
RELN	5649	broad.mit.edu	37	chr7	103137114	103137114	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctgccaccagcgaagtcGagttgtgttggtgagggcat	8	9	16	8	2	0	1	0	1	0	0	1	3	0	1	2	3	2	4	2	3	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:103137114G>A	uc022ajr.1	-	55	9212	c.9052C>T	c.(9052-9054)Cga>Tga	p.R3018*	RELN_uc022ajq.1_Nonsense_Mutation_p.R3018*|RELN_uc010liz.3_Nonsense_Mutation_p.R3018*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3018					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAGCGAAGTCGAGTTGTGTTG	0.478													A	103137114	G	A	103137114	4	1	52	1	0	0	0	0	0	1	0	0	13308	1066	37	1	1370	1	RELN	7	103137114	Nonsense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	16053219	103137114	56001549	27	3195											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	52	1	0	0	0	0	1	0	0	0	1505	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08	37316022	140453136	18685527	28	3196											
WDR86	349136	broad.mit.edu	37	chr7	151093239	151093239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccagacccgagctgtccGgtcataggagctgctgaaga	10	7	12	12	2	1	3	1	1	0	2	3	5	3	4	3	2	3	3	3	2	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr7:151093239G>A	uc011kvk.1	-	2	798	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	WDR86_uc003wka.2_Missense_Mutation_p.R75W|WDR86_uc003wkb.2_Missense_Mutation_p.R117W|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	117										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGAGCTGTCCGGTCATAGGAG	0.627													A	151093239	G	A	151093239	3	1	52	1	0	0	0	0	1	0	0	0	17436	1115	39	1	797	1	WDR86	7	151093239	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	10640103	151093239	8045424	29	3197											
RIMS2	9699	broad.mit.edu	37	chr8	104709403	104709403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaacagaagggtgatgCgccaacctgtggtatctgcc	11	7	13	10	1	1	3	0	1	1	2	1	3	1	3	3	2	4	2	3	2	5	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr8:104709403C>T	uc003ylp.3	+	1	405	c.266C>T	c.(265-267)gCg>gTg	p.A89V		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	120	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			AAGGGTGATGCGCCAACCTGT	0.438										HNSCC(12;0.0054)			T	104709403	C	T	104709403	3	4	52	1	0	0	0	0	1	0	0	0	13459	768	27	1	272	1	RIMS2	8	104709403	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		104709403	41654619	30	3198											
PRSS3	5646	broad.mit.edu	37	chr9	33798043	33798043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagctgctggcactgagtgCctcatctccggctggggcaa	6	8	13	14	1	2	1	1	1	1	0	3	1	2	1	3	4	3	5	3	4	1	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:33798043C>T	uc003ztj.4	+	2	639	c.588C>T	c.(586-588)tgC>tgT	p.C196C	PRSS3_uc003zti.4_Silent_p.C153C|PRSS3_uc022bfu.1_Silent_p.C132C|PRSS3_uc003ztl.4_Silent_p.C139C	NM_007343	NP_031369	P35030	TRY3_HUMAN	Homo sapiens protease, serine, 3 (PRSS3), transcript variant 1, mRNA.	196	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			GCACTGAGTGCCTCATCTCCG	0.567													T	33798043	C	T	33798043	2	4	52	1	0	0	0	0	0	0	0	1	12707	747	26	2		2	PRSS3	9	33798043	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08		33798043	107415388	31	3199											
WNK2	65268	broad.mit.edu	37	chr9	96080166	96080166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccagatggcgccctcGgaaccgcccggagaaaccag	9	4	12	16	4	0	2	0	0	0	2	1	4	0	3	6	3	3	0	6	3	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:96080166G>A	uc004ati.1	+	29	6751	c.6751G>A	c.(6751-6753)Gga>Aga	p.G2251R	WNK2_uc011lud.1_Intron|WNK2_uc004atj.3_Intron|WNK2_uc004atk.3_3'UTR	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2251					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGCCCTCGGAACCGCCCG	0.687													A	96080166	G	A	96080166	3	1	52	1	0	0	0	0	1	0	0	0	17480	1131	39	1		1	WNK2	9	96080166	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	62282123	96080166	45133265	32	3200											
SLC46A2	57864	broad.mit.edu	37	chr9	115652489	115652489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcccagcgatcccagcGccatgaccccggaccagaag	11	2	12	16	3	0	2	0	1	0	1	1	5	1	4	6	2	3	0	6	2	1	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:115652489G>A	uc004bgk.3	-	0	705	c.473C>T	c.(472-474)gCg>gTg	p.A158V		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	158						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGATCCCAGCGCCATGACCCC	0.682													A	115652489	G	A	115652489	3	1	52	1	0	0	0	0	1	0	0	0	14739	1087	38	1	970	1	SLC46A2	9	115652489	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	19572323	115652489	25560942	33	3201											
OR1N2	138882	broad.mit.edu	37	chr9	125316158	125316158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcgtcttctcctatgtccGcattttctgggctgtgtttg	3	18	10	10	2	3	0	0	0	3	0	6	1	4	0	2	1	0	3	2	1	1	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:125316158G>A	uc011lyx.2	+	0	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001004457	NP_001004457	Q8NGR9	OR1N2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 2 (OR1N2), mRNA.	237			R -> C (in dbSNP:rs41316976).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TCCTATGTCCGCATTTTCTGG	0.517													A	125316158	G	A	125316158	3	1	52	1	0	0	0	0	1	0	0	0	11046	1087	38	1	712	1	OR1N2	9	125316158	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	9663669	125316158	15897273	34	3202											
COL5A1	1289	broad.mit.edu	37	chr9	137622156	137622156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgggaaggaagaggacgtCggcatcggggactatgacta	11	6	17	7	3	0	2	0	1	0	1	2	6	0	6	0	6	0	2	0	6	4	2	rs138702819	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr9:137622156C>T	uc004cfe.3	+	6	1381	c.999C>T	c.(997-999)gtC>gtT	p.V333V		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	333	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AAGAGGACGTCGGCATCGGGG	0.622													T	137622156	C	T	137622156	2	4	52	1	0	0	0	0	0	0	0	1	3727	871	31	1		1	COL5A1	9	137622156	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	12305998	137622156	3591275	35	3203											
RBP3	5949	broad.mit.edu	37	chr10	48389546	48389546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcgtcagcaaaactatcGaagcgcaggtagcccacatt	13	6	11	11	3	1	0	1	0	0	0	2	2	1	0	1	2	4	3	1	2	5	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:48389546G>A	uc001jez.3	-	0	1446	c.1332C>T	c.(1330-1332)ttC>ttT	p.F444F		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	444	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.F444F(2)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CAAAACTATCGAAGCGCAGGT	0.617													A	48389546	G	A	48389546	2	1	52	1	0	0	0	0	0	0	0	1	13245	1049	37	1		1	RBP3	10	48389546	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		48389546	87145201	36	3204											
PTEN	5728	broad.mit.edu	37	chr10	89711988	89711989	+	Frame_Shift_Del	DEL	TA	TA	-																															cacaagatgatgtttgaaacTattccaatgttcagtggcgg																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:89711988_89711989delTA	uc001kfb.3	+	5	1638_1639	c.606_607delTA	c.(604-609)actattfs	p.T202fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	202	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.I203fs*39(2)|p.Y27fs*1(2)|p.I203fs*18(2)|p.Y27_N212>Y(2)|p.T202I(1)|p.T202fs*19(1)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTTTGAAACTATTCCAATGTT	0.371		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89711989	TA	-	89711988	7	5	52	1	0	1	0	1	0	0	0	0	12823	1509	53	0	628	0	PTEN	10	89711988	Frame_Shift_Del	DEL	TA	TCGA-06-0644-01A-02D-1492-08	41322442	89711988	45822759	37	3205											
CTBP2	1488	broad.mit.edu	37	chr10	126691658	126691658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacatcatggcgcccaCggcttcgtttagaacctgcg	7	10	12	12	4	1	1	1	0	0	1	2	1	1	1	2	3	3	3	2	3	3	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr10:126691658C>T	uc009yak.3	-	4	516	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	CTBP2_uc009yal.3_Missense_Mutation_p.V77M|CTBP2_uc001lif.4_Missense_Mutation_p.V77M|CTBP2_uc001lih.4_Missense_Mutation_p.V77M|CTBP2_uc001lid.4_Missense_Mutation_p.V145M|CTBP2_uc001lie.4_Missense_Mutation_p.V617M	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	77					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		ATGGCGCCCACGGCTTCGTTT	0.627													T	126691658	C	T	126691658	3	4	52	1	0	0	0	0	1	0	0	0	4031	536	19	1	1136	1	CTBP2	10	126691658	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	36979670	126691658	8843089	38	3206											
OR5M9	390162	broad.mit.edu	37	chr11	56230656	56230656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcattttgggggtaacGttggaggagaagcacacgtc	10	9	14	8	2	0	1	0	0	0	1	2	3	1	2	1	4	3	4	1	4	2	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr11:56230656G>A	uc010rjj.2	-	0	222	c.222C>T	c.(220-222)aaC>aaT	p.N74N	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGGGGGTAACGTTGGAGGAGA	0.438													A	56230656	G	A	56230656	2	1	52	1	0	0	0	0	0	0	0	1	11253	1136	40	1		1	OR5M9	11	56230656	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		56230656	78775860	39	3207											
B4GALNT3	283358	broad.mit.edu	37	chr12	657400	657400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctcctcttccagtggCgacggaacgaccctggagcc	6	9	10	16	3	3	0	0	0	3	0	6	4	4	2	4	3	2	0	4	3	1	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:657400C>T	uc001qii.1	+	8	790	c.790C>T	c.(790-792)Cga>Tga	p.R264*	B4GALNT3_uc001qij.1_Nonsense_Mutation_p.R166*	NM_173593	NP_775864	Q6L9W6	B4GN3_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 3 (B4GALNT3), mRNA.	264						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CTTCCAGTGGCGACGGAACGA	0.582													T	657400	C	T	657400	4	4	52	1	0	0	0	0	0	1	0	0	1273	760	27	1	824	1	B4GALNT3	12	657400	Nonsense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		657400	133194495	40	3208											
PIK3C2G	5288	broad.mit.edu	37	chr12	18716419	18716419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagcagtttgcatcaCtgactctcccagagtaaggc	11	10	9	11	0	3	3	2	1	1	2	4	3	3	3	1	1	2	4	1	1	2	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:18716419C>T	uc001rdt.3	+	26	3882	c.3766C>T	c.(3766-3768)Ctg>Ttg	p.L1256L	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.L1297L|PIK3C2G_uc010sic.2_Silent_p.L1075L	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1256	PX.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTTTGCATCACTGACTCTCCC	0.398													T	18716419	C	T	18716419	2	4	52	1	0	0	0	0	0	0	0	1	11988	564	20	2		2	PIK3C2G	12	18716419	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	18059019	18716419	115135476	41	3209											
PDE3A	5139	broad.mit.edu	37	chr12	20522696	20522696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggggtgcgcctgcctctgGctgtcgcgctgctggccgcc	0	8	16	17	5	1	0	0	0	1	0	2	0	1	0	5	4	3	3	5	4	0	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:20522696G>A	uc001reh.2	+	0	518	c.478G>A	c.(478-480)Gct>Act	p.A160T		NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	160					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	CCTGCCTCTGGCTGTCGCGCT	0.701													A	20522696	G	A	20522696	3	1	52	1	0	0	0	0	1	0	0	0	11713	1203	42	2	480	2	PDE3A	12	20522696	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	1806277	20522696	113329199	42	3210											
C12orf12	196477	broad.mit.edu	37	chr12	91348191	91348191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgcaggccatacaccCgaaacacttgcaccgggcag	11	4	13	13	2	0	0	0	0	0	0	0	2	0	0	3	3	4	3	3	3	2	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:91348191C>T	uc001tbj.3	-	0	763	c.329G>A	c.(328-330)cGg>cAg	p.R110Q		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	110										NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						GCCATACACCCGAAACACTTG	0.647													T	91348191	C	T	91348191	3	4	52	1	0	0	0	0	1	0	0	0	1689	652	23	1	895	1	C12orf12	12	91348191	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	70825495	91348191	42503704	43	3211											
BTBD11	121551	broad.mit.edu	37	chr12	108013833	108013833	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcaccgcaggcctctCatccagtgcttgttaaagga	10	8	10	13	1	1	0	1	0	1	0	3	1	2	1	3	2	3	5	3	2	2	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr12:108013833C>A	uc001tmk.1	+	10	3044	c.2523C>A	c.(2521-2523)ctC>ctA	p.L841L	BTBD11_uc009zut.1_Silent_p.L722L|BTBD11_uc001tmj.3_Silent_p.L841L|BTBD11_uc001tml.1_Silent_p.L378L	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	841						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						GCAGGCCTCTCATCCAGTGCT	0.582													A	108013833	C	A	108013833	2	1	52	1	0	0	0	0	0	0	0	1	1548	813	29	4		4	BTBD11	12	108013833	Silent	SNP	C	TCGA-06-0644-01A-02D-1492-08	16665642	108013833	25838062	44	3212											
FAM48A	55578	broad.mit.edu	37	chr13	37607599	37607599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caattaccgtttcattgggcGagtgttcatcttttgcttgt	6	18	9	8	2	3	0	2	0	1	0	3	1	3	0	1	1	2	3	1	1	2	7			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr13:37607599G>A	uc001uwk.3	-	9	942	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C	FAM48A_uc010abt.3_Missense_Mutation_p.R233C|FAM48A_uc001uwg.3_Missense_Mutation_p.R232C|FAM48A_uc001uwh.3_Missense_Mutation_p.R233C|FAM48A_uc001uwi.3_Missense_Mutation_p.R232C|FAM48A_uc001uwj.3_Missense_Mutation_p.R233C|FAM48A_uc010tes.1_Missense_Mutation_p.R220C|FAM48A_uc001uwl.1_Missense_Mutation_p.R232C	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	232					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		TTCATTGGGCGAGTGTTCATC	0.428													A	37607599	G	A	37607599	3	1	52	1	0	0	0	0	1	0	0	0	5623	1058	37	1	1713	1	FAM48A	13	37607599	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08		37607599	77562279	45	3213											
RBM25	58517	broad.mit.edu	37	chr14	73578261	73578261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaatagtcctggtcagccTaattctgtgaagagaaagaa	14	10	9	8	0	2	3	1	1	1	2	4	4	4	3	3	1	1	0	3	1	6	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:73578261T>C	uc010ttu.2	+	16	2319	c.2043T>C	c.(2041-2043)ccT>ccC	p.P681P	RBM25_uc001xno.3_Silent_p.P681P|RBM25_uc001xnp.3_Silent_p.P476P	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	681					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGGTCAGCCTAATTCTGTGA	0.388													C	73578261	T	C	73578261	2	2	52	1	0	0	0	0	0	0	0	1	13213	1509	53	3		3	RBM25	14	73578261	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08		73578261	33771279	46	3214											
EML5	161436	broad.mit.edu	37	chr14	89084607	89084607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtaattctgtcaatagcGgcatgatccataagatgttt	13	13	8	7	1	2	2	1	1	1	1	3	2	3	2	1	1	1	3	1	1	5	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:89084607G>A	uc021ryf.1	-	39	5856	c.5607C>T	c.(5605-5607)gcC>gcT	p.A1869A	EML5_uc001xxf.3_Silent_p.A656A|EML5_uc021ryg.1_Silent_p.A1869A|EML5_uc001xxd.3_Silent_p.A34A|EML5_uc001xxe.3_Silent_p.A218A	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1861						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TGTCAATAGCGGCATGATCCA	0.378													A	89084607	G	A	89084607	2	1	52	1	0	0	0	0	0	0	0	1	5141	1103	39	1		1	EML5	14	89084607	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	15506346	89084607	18264933	47	3215											
SERPINA1	5265	broad.mit.edu	37	chr14	94847444	94847444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggaagtcctcttcctcGgtgtccttgacttcaaaggg	7	12	11	11	2	2	1	1	1	1	0	6	2	5	2	3	3	0	0	3	3	2	3			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:94847444G>A	uc001ycy.4	-	4	1235	c.681C>T	c.(679-681)acC>acT	p.T227T	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.T227T|SERPINA1_uc010auy.3_Silent_p.T227T|SERPINA1_uc001ycz.4_Silent_p.T227T|SERPINA1_uc010auz.3_Silent_p.T227T|SERPINA1_uc010ava.3_Silent_p.T227T|SERPINA1_uc001ydb.4_Silent_p.T227T|SERPINA1_uc010avb.3_Silent_p.T227T|SERPINA1_uc001ydc.4_Silent_p.T227T|SERPINA1_uc010auw.3_Silent_p.T227T|SERPINA1_uc010aux.3_Silent_p.T227T|SERPINA1_uc001yda.1_Silent_p.T227T	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	227					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	CCTCTTCCTCGGTGTCCTTGA	0.517													A	94847444	G	A	94847444	2	1	52	1	0	0	0	0	0	0	0	1	14179	1103	39	1		1	SERPINA1	14	94847444	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	5762837	94847444	12502096	48	3216											
HHIPL1	84439	broad.mit.edu	37	chr14	100118715	100118715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaccaggagctctgggCgctggagggcaaccttgcca	9	6	14	12	1	1	1	0	1	1	0	1	3	1	3	3	4	4	3	3	4	2	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr14:100118715C>T	uc010avs.3	+	1	475	c.410C>T	c.(409-411)gCg>gTg	p.A137V	HHIPL1_uc001ygl.1_Missense_Mutation_p.A137V	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	137					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GAGCTCTGGGCGCTGGAGGGC	0.602													T	100118715	C	T	100118715	3	4	52	1	0	0	0	0	1	0	0	0	7148	768	27	1	416	1	HHIPL1	14	100118715	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	5271271	100118715	7230825	49	3217											
EIF2AK4	440275	broad.mit.edu	37	chr15	40247830	40247830	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgttctaggaacgtttgGaaattgctagtttgtcaaac	10	16	9	6	1	3	0	1	0	2	0	3	2	3	2	0	2	3	4	0	2	5	7			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:40247830G>T	uc001zkm.1	+	5	654	c.604G>T	c.(604-606)Gaa>Taa	p.E202*	EIF2AK4_uc001zkl.3_Nonsense_Mutation_p.E202*|EIF2AK4_uc010bbj.1_5'UTR	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	202					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GGAACGTTTGGAAATTGCTAG	0.378													T	40247830	G	T	40247830	4	4	52	1	0	0	0	0	0	1	0	0	5038	1175	41	4	626	4	EIF2AK4	15	40247830	Nonsense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08		40247830	62283562	50	3218											
SPTBN5	51332	broad.mit.edu	37	chr15	42167085	42167085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggatggccggggaggcgGccatgccatgggccatggag	7	4	19	11	2	0	0	0	0	0	0	0	3	0	3	5	8	1	0	5	8	0	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:42167085G>A	uc001zos.3	-	22	4685	c.4352C>T	c.(4351-4353)gCc>gTc	p.A1451V		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1486					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGGGGAGGCGGCCATGCCATG	0.632													A	42167085	G	A	42167085	3	1	52	1	0	0	0	0	1	0	0	0	15218	1203	42	2	6751	2	SPTBN5	15	42167085	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	1919255	42167085	60364307	51	3219											
PIAS1	8554	broad.mit.edu	37	chr15	68468841	68468841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccacattggagcatcagGtagcgtctcaccaccagtcc	9	8	9	15	1	2	0	2	0	1	0	5	1	4	1	4	2	2	3	4	2	1	2			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr15:68468841G>T	uc002aqz.3	+	10	1423	c.1330G>T	c.(1330-1332)Gta>Tta	p.V444L		NM_016166	NP_057250	O75925	PIAS1_HUMAN	Homo sapiens protein inhibitor of activated STAT, 1 (PIAS1), mRNA.	444					androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						GGAGCATCAGGTAGCGTCTCA	0.423													T	68468841	G	T	68468841	3	4	52	1	0	0	0	0	1	0	0	0	11952	1261	44	4	1372	4	PIAS1	15	68468841	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	26301756	68468841	34062551	52	3220											
CDYL2	124359	broad.mit.edu	37	chr16	80718568	80718568	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatccttctcagagccGgcgtccccattttccatccc	5	12	5	19	2	2	1	2	0	2	1	8	1	6	1	6	1	1	0	6	1	0	3	rs149557557		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr16:80718568G>A	uc002ffs.3	-	1	588	c.483C>T	c.(481-483)gcC>gcT	p.A161A		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	161						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TCTCAGAGCCGGCGTCCCCAT	0.512													A	80718568	G	A	80718568	2	1	52	1	0	0	0	0	0	0	0	1	3216	1103	39	1		1	CDYL2	16	80718568	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		80718568	9636185	53	3221											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(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	0.557		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)			C	7578190	T	C	7578190	3	2	52	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		7578190	73617020	54	3222											
ABCA10	10349	broad.mit.edu	37	chr17	67148603	67148603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccctctccttgtttttaaCggtagcctgaagtatctgcc	6	14	8	13	1	2	1	0	1	2	0	3	1	2	1	5	1	3	3	5	1	4	6			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr17:67148603C>T	uc010dfa.1	-	35	5035	c.4156G>A	c.(4156-4158)Gtt>Att	p.V1386I	ABCA10_uc002jhz.3_5'Flank|ABCA10_uc010wqs.1_Missense_Mutation_p.V378I|ABCA10_uc010wqt.1_Non-coding_Transcript	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	1386	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TTGTTTTTAACGGTAGCCTGA	0.423													T	67148603	C	T	67148603	3	4	52	1	0	0	0	0	1	0	0	0	29	536	19	1	495	1	ABCA10	17	67148603	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	59570413	67148603	14046607	55	3223											
MYOM1	8736	broad.mit.edu	37	chr18	3134669	3134669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagcccttcacggggttgTtgttacagggctcccacttg	5	12	13	11	1	1	1	1	1	0	0	2	1	2	1	2	3	2	4	2	3	1	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:3134669T>C	uc002klp.3	-	15	2697	c.2363A>G	c.(2362-2364)aAc>aGc	p.N788S	MYOM1_uc002klq.3_Missense_Mutation_p.N788S	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	788	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACGGGGTTGTTGTTACAGGG	0.577													C	3134669	T	C	3134669	3	2	52	1	0	0	0	0	1	0	0	0	10167	1725	60	3	2786	3	MYOM1	18	3134669	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		3134669	74942579	56	3224											
CDH7	1005	broad.mit.edu	37	chr18	63477003	63477003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgtcaggcgaaggggcaAgttccattttcattattgat	9	15	10	7	1	3	1	2	1	1	0	4	2	4	1	1	3	0	2	1	3	3	6			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr18:63477003A>G	uc002lkb.3	+	2	700	c.274A>G	c.(274-276)Agt>Ggt	p.S92G	CDH7_uc002ljz.3_Missense_Mutation_p.S92G|CDH7_uc002lka.3_Missense_Mutation_p.S92G	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	92	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CGAAGGGGCAAGTTCCATTTT	0.448													G	63477003	A	G	63477003	3	3	52	1	0	0	0	0	1	0	0	0	3145	72	3	3	280	3	CDH7	18	63477003	Missense_Mutation	SNP	A	TCGA-06-0644-01A-02D-1492-08	60342334	63477003	14600245	57	3225											
REXO1	57455	broad.mit.edu	37	chr19	1816329	1816329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacagacgtgtccaccaCggtgctgtggatgacctgtg	8	8	14	11	2	0	2	0	1	0	1	1	4	1	3	3	2	2	2	3	2	0	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:1816329C>T	uc002lua.4	-	14	3567	c.3472G>A	c.(3472-3474)Gtg>Atg	p.V1158M	REXO1_uc010dsq.3_Missense_Mutation_p.V467M|REXO1_uc010xgs.1_Missense_Mutation_p.V144M|REXO1_uc021umm.1_5'Flank	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	1158	Exonuclease.					nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		GTGTCCACCACGGTGCTGTGG	0.682													T	1816329	C	T	1816329	3	4	52	1	0	0	0	0	1	0	0	0	13329	536	19	1	201	1	REXO1	19	1816329	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08		1816329	57312654	58	3226											
OR2Z1	284383	broad.mit.edu	37	chr19	8841802	8841802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcctgtacttatgagaCgccaggtatgtctgctgatg	9	13	11	8	1	1	2	0	2	1	1	2	3	2	2	2	1	2	4	2	1	4	4	rs58741481	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:8841802C>T	uc010xkg.2	+	0	412	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	138			R -> C (in dbSNP:rs58741481).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTATGAGACGCCAGGTATG	0.557													T	8841802	C	T	8841802	3	4	52	1	0	0	0	0	1	0	0	0	11112	536	19	1	414	1	OR2Z1	19	8841802	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	7025473	8841802	50287181	59	3227											
SARS2	54938	broad.mit.edu	37	chr19	39408375	39408375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacaccggaagtgcaaGcccagctctgtcaagatctc	10	8	8	15	1	4	1	1	0	3	1	6	2	4	2	3	1	3	2	3	1	3	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:39408375G>A	uc010xup.1	-	12	1315	c.1155C>T	c.(1153-1155)ggC>ggT	p.G385G	SARS2_uc002ojz.2_Silent_p.G193G|SARS2_uc002oka.2_Silent_p.G383G|SARS2_uc010xuq.1_Silent_p.G383G|SARS2_uc010xur.1_Non-coding_Transcript	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	383					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GGAAGTGCAAGCCCAGCTCTG	0.627													A	39408375	G	A	39408375	2	1	52	1	0	0	0	0	0	0	0	1	13937	958	34	2		2	SARS2	19	39408375	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	30566573	39408375	19720608	60	3228											
IL4I1	259307	broad.mit.edu	37	chr19	50397588	50397588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcctggggacgcaaggcGtagcccagcttctcgggcac	6	9	13	13	3	1	0	0	0	1	0	3	1	2	1	2	4	2	4	2	4	2	4	rs145616852	byFrequency	TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:50397588G>A	uc002pqv.2	-	7	1360	c.531C>T	c.(529-531)taC>taT	p.Y177Y	IL4I1_uc002pqt.1_Silent_p.Y168Y|IL4I1_uc021uxy.1_Silent_p.Y190Y|IL4I1_uc002pqu.2_Silent_p.Y190Y|IL4I1_uc010eno.2_Silent_p.Y176Y	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	168						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GACGCAAGGCGTAGCCCAGCT	0.602													A	50397588	G	A	50397588	2	1	52	1	0	0	0	0	0	0	0	1	7755	1140	40	1		1	IL4I1	19	50397588	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	10989213	50397588	8731395	61	3229											
ZNF667	63934	broad.mit.edu	37	chr19	56953533	56953533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatttatgtgttttcttTccattgtgaattttcttatg	7	25	5	4	0	2	1	0	1	2	0	3	1	3	1	1	0	0	1	1	0	5	11			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:56953533T>C	uc002qne.3	-	6	1622	c.831A>G	c.(829-831)ggA>ggG	p.G277G	ZNF667_uc010etl.3_Silent_p.G59G|ZNF667_uc002qnd.3_Silent_p.G277G|ZNF667_uc010etm.3_Silent_p.G220G	NM_022103	NP_071386	Q5HYK9	ZN667_HUMAN	Homo sapiens zinc finger protein 667 (ZNF667), transcript variant 1, mRNA.	277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GTGTTTTCTTTCCATTGTGAA	0.348													C	56953533	T	C	56953533	2	2	52	1	0	0	0	0	0	0	0	1	18175	1770	62	3		3	ZNF667	19	56953533	Silent	SNP	T	TCGA-06-0644-01A-02D-1492-08	6555945	56953533	2175450	62	3230											
ZNF134	7693	broad.mit.edu	37	chr19	58131796	58131796	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtgttacagtatagaGcaacccttaagaagggataa	17	8	10	6	0	0	3	0	0	0	3	0	4	0	4	1	1	3	3	1	1	8	5			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr19:58131796G>A	uc002qpn.2	+	2	408	c.309G>A	c.(307-309)gaG>gaA	p.E103E	ZNF134_uc002qpo.2_5'UTR|ZNF211_uc010yhb.1_5'UTR	NM_003435	NP_003426	P52741	ZN134_HUMAN	Homo sapiens zinc finger protein 134 (ZNF134), mRNA.	103						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACAGTATAGAGCAACCCTTAA	0.458													A	58131796	G	A	58131796	2	1	52	1	0	0	0	0	0	0	0	1	17825	962	34	2		2	ZNF134	19	58131796	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	1178263	58131796	997187	63	3231											
PTPRT	11122	broad.mit.edu	37	chr20	41306674	41306674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacgtgcctgtggtggTgcgatattccacttccttca	5	13	10	13	2	1	0	1	0	0	0	3	1	3	0	4	2	3	0	4	2	1	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr20:41306674T>C	uc002xkg.3	-	6	1169	c.985A>G	c.(985-987)Acc>Gcc	p.T329A	PTPRT_uc010ggj.3_Missense_Mutation_p.T329A	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	329	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R328C(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CCTGTGGTGGTGCGATATTCC	0.557													C	41306674	T	C	41306674	3	2	52	1	0	0	0	0	1	0	0	0	12900	1696	59	3	3501	3	PTPRT	20	41306674	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		41306674	21718846	64	3232											
OLIG2	10215	broad.mit.edu	37	chr21	34399532	34399532	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcgagcgcaagcgcaTgcacgacctcaacatcgcca	11	3	10	17	6	1	0	1	0	0	0	2	2	1	0	3	0	5	3	3	0	2	0			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:34399532T>A	uc002yqx.2	+	1	543	c.362T>A	c.(361-363)aTg>aAg	p.M121K	OLIG2_uc021wil.1_Missense_Mutation_p.M121K	NM_005806	NP_005797	Q13516	OLIG2_HUMAN	Homo sapiens oligodendrocyte lineage transcription factor 2 (OLIG2), mRNA.	121	Helix-loop-helix motif.					cytoplasm|nucleus|plasma membrane	DNA binding			breast(1)|central_nervous_system(2)	3						CGCAAGCGCATGCACGACCTC	0.622			T	TRA@	T-ALL								A	34399532	T	A	34399532	3	1	52	1	0	0	0	0	1	0	0	0	10937	1464	51	5	364	5	OLIG2	21	34399532	Missense_Mutation	SNP	T	TCGA-06-0644-01A-02D-1492-08		34399532	13730363	65	3233											
COL6A2	1292	broad.mit.edu	37	chr21	47544566	47544566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttgttccttctcaggCggatcctggtccccctggtg	2	15	11	13	1	2	0	1	0	2	0	6	1	5	1	4	4	0	2	4	4	0	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr21:47544566C>T	uc002zia.1	+	22	1754	c.1672_splice	c.e22-1	p.A558_splice	COL6A2_uc002zhz.1_Splice_Site_p.A558_splice|COL6A2_uc002zhy.1_Splice_Site_p.A558_splice	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	558	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.A558V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTTCTCAGGCGGATCCTGGT	0.672													T	47544566	C	T	47544566	3	4	52	1	0	0	0	0	1	0	0	0	3731	782	27	1	1755	1	COL6A2	21	47544566	Missense_Mutation	SNP	C	TCGA-06-0644-01A-02D-1492-08	13145034	47544566	585329	66	3234											
RIMBP3B	150221	broad.mit.edu	37	chr22	21742628	21742629	+	Frame_Shift_Ins	INS	-	-	C																															agagtgtggggctctcaggaINScacccatgatttctacctca																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chr22:21742628_21742629insC	uc002zuq.4	+	0	4966_4967	c.4481_4482insC	c.(4480-4482)gacfs	p.D1494fs	RN7SK_uc021wmf.1_5'Flank	NM_001128635	NP_001122107			Homo sapiens RIMS binding protein 3B (RIMBP3B), mRNA.																		GGCTCTCAGGACACCCATGATT	0.559													C	21742629	-	C	21742628	7	5	52	1	0	1	1	0	0	0	0	0	13454	275	10	0	4483	0	RIMBP3B	22	21742628	Frame_Shift_Ins	INS	-	TCGA-06-0644-01A-02D-1492-08		21742628	29561938	67	3235											
MXRA5	25878	broad.mit.edu	37	chrX	3229308	3229308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccctcatccccacttcGttaaagtagagtgtcccatt	8	13	5	15	1	1	1	1	0	0	1	6	1	5	1	5	0	0	2	5	0	3	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:3229308G>A	uc004crg.4	-	6	7093	c.6936C>T	c.(6934-6936)aaC>aaT	p.N2312N		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2312	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCCCACTTCGTTAAAGTAGA	0.547													A	3229308	G	A	3229308	2	1	52	1	0	0	0	0	0	0	0	1	10079	1136	40	1		1	MXRA5	23	3229308	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08		3229308	152041252	68	3236											
TLR8	51311	broad.mit.edu	37	chrX	12939911	12939911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacgttctcctttgtctaGaggagagggattgggatccg	10	11	13	7	2	2	2	0	0	2	2	4	5	3	4	2	3	1	1	2	3	3	4			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:12939911G>A	uc004cvd.3	+	2	2976	c.2806G>A	c.(2806-2808)Gag>Aag	p.E936K	TLR8-AS1_uc022btb.1_Intron|TLR8_uc004cve.3_Missense_Mutation_p.E918K	NM_138636	NP_619542	Q9NR97	TLR8_HUMAN	Homo sapiens toll-like receptor 8 (TLR8), mRNA.	918	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCTTTGTCTAGAGGAGAGGGA	0.443													A	12939911	G	A	12939911	3	1	52	1	0	0	0	0	1	0	0	0	16057	943	33	2	2758	2	TLR8	23	12939911	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	9710603	12939911	142330649	69	3237											
OTUD6A	139562	broad.mit.edu	37	chrX	69282717	69282717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggagagcatcttccagGctgagatgtcggagcacctg	9	7	14	11	1	1	2	0	1	1	2	3	5	2	3	3	3	2	3	3	3	0	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:69282717G>C	uc004dxu.1	+	0	377	c.343G>C	c.(343-345)Gct>Cct	p.A115P		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	115										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CATCTTCCAGGCTGAGATGTC	0.617													C	69282717	G	C	69282717	3	2	52	1	0	0	0	0	1	0	0	0	11392	1203	42	4	345	4	OTUD6A	23	69282717	Missense_Mutation	SNP	G	TCGA-06-0644-01A-02D-1492-08	56342806	69282717	85987843	70	3238											
CXorf57	55086	broad.mit.edu	37	chrX	105855511	105855511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccccctcggaggtggtGcctgtaactgtgctggccgt	4	10	14	13	2	1	0	1	0	0	0	2	1	1	1	4	4	3	2	4	4	1	1			TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrX:105855511G>A	uc004emi.4	+	0	352	c.201G>A	c.(199-201)gtG>gtA	p.V67V	CXorf57_uc004emj.4_Silent_p.V67V|CXorf57_uc004emh.2_Silent_p.V67V	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	67										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CGGAGGTGGTGCCTGTAACTG	0.572													A	105855511	G	A	105855511	2	1	52	1	0	0	0	0	0	0	0	1	4146	1306	46	2		2	CXorf57	23	105855511	Silent	SNP	G	TCGA-06-0644-01A-02D-1492-08	36572794	105855511	49415049	71	3239											
PCDH11Y	83259	broad.mit.edu	37	chrY	4967730	4967730	+	Frame_Shift_Del	DEL	T	T	-																															tgtcaatgacaacaaaccagTtttcattgtccctccttaca																										TCGA-06-0644-01A-02D-1492-08	TCGA-06-0644-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2553c4d2-5f6a-4eba-84b6-04c4761ebf5c	1d3f3beb-1389-4062-99f3-811b08c4f174	g.chrY:4967730delT	uc004fqo.3	+	1	2845	c.2111delT	c.(2110-2112)gttfs	p.V704fs	PCDH11Y_uc010nwg.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fql.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqm.1_Frame_Shift_Del_p.V693fs|PCDH11Y_uc004fqn.1_Frame_Shift_Del_p.V704fs|PCDH11Y_uc004fqp.1_Frame_Shift_Del_p.V475fs	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	704	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AACAAACCAGTTTTCATTGTC	0.403													-	4967730	T	-	4967730	7	5	52	1	0	1	0	1	0	0	0	0	11585	1725	60	0	2153	0	PCDH11Y	24	4967730	Frame_Shift_Del	DEL	T	TCGA-06-0644-01A-02D-1492-08		4967730	54405836	72	3240											
KIAA1751	85452	broad.mit.edu	37	chr1	1888126	1888126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcaggaacttgaaagtcGtgcccaagcccccaacgttg	10	7	11	13	2	0	1	0	1	0	0	1	2	0	2	3	2	4	2	3	2	4	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:1888126G>A	uc001aim.1	-	16	2105	c.1949C>T	c.(1948-1950)aCg>aTg	p.T650M	KIAA1751_uc009vkz.1_Missense_Mutation_p.T650M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	650								p.T650S(1)		breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CTTGAAAGTCGTGCCCAAGCC	0.582													A	1888126	G	A	1888126	3	1	53	1	0	0	0	0	1	0	0	0	8314	1145	40	1	347	1	KIAA1751	1	1888126	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		1888126	247362495	1	3241											
TAS1R2	80834	broad.mit.edu	37	chr1	19166593	19166593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgtagggcccctggtagcGgacccagtagctgtaggcgc	7	6	16	12	3	0	0	0	0	0	0	0	2	0	1	3	4	2	5	3	4	4	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:19166593G>A	uc001bba.1	-	5	2021	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	674					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCCTGGTAGCGGACCCAGTAG	0.572													A	19166593	G	A	19166593	3	1	53	1	0	0	0	0	1	0	0	0	15660	1116	39	1	503	1	TAS1R2	1	19166593	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	17278467	19166593	230084028	2	3242											
GRHL3	57822	broad.mit.edu	37	chr1	24657929	24657929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcagtttcaggtctgtgCggctgctaaagaacgaccca	10	10	10	11	2	3	1	2	0	1	1	3	2	3	1	1	2	3	3	1	2	3	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:24657929C>T	uc021oiw.1	+	1	261	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	GRHL3_uc001bix.3_Missense_Mutation_p.R11W|GRHL3_uc021oix.1_5'UTR|GRHL3_uc001biy.3_Missense_Mutation_p.R16W|GRHL3_uc001biz.3_Intron	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	11					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CAGGTCTGTGCGGCTGCTAAA	0.512													T	24657929	C	T	24657929	3	4	53	1	0	0	0	0	1	0	0	0	6820	759	27	1	73	1	GRHL3	1	24657929	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	5491336	24657929	224592692	3	3243											
KPRP	448834	broad.mit.edu	37	chr1	152732729	152732729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtttccctcagtatcGgtcccggacttcatttagtc	6	14	8	13	2	2	0	2	0	0	0	6	1	4	1	2	2	1	3	2	2	2	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:152732729G>A	uc001fal.1	+	1	723	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	KPRP_uc021ozf.1_Missense_Mutation_p.R222Q	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	222						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCAGTATCGGTCCCGGACT	0.582													A	152732729	G	A	152732729	3	1	53	1	0	0	0	0	1	0	0	0	8494	1116	39	1	667	1	KPRP	1	152732729	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	128074800	152732729	96517892	4	3244											
OR2L8	391190	broad.mit.edu	37	chr1	248112496	248112496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaggtgcagaagcactaCttttggcatctatggcctat	10	12	11	8	0	1	1	0	0	1	1	1	2	1	2	1	4	3	3	1	4	5	6			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr1:248112496C>A	uc001idt.1	+	0	337	c.337C>A	c.(337-339)Ctt>Att	p.L113I	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAAGCACTACTTTTGGCATC	0.443													A	248112496	C	A	248112496	3	1	53	1	0	0	0	0	1	0	0	0	11085	565	20	4	339	4	OR2L8	1	248112496	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	95379767	248112496	1138125	5	3245											
EHD3	30845	broad.mit.edu	37	chr2	31483602	31483602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtggtccttggggaagatCgtgaacaccccagaggtgat	10	9	14	8	1	0	4	0	2	0	2	2	5	1	5	3	4	1	0	3	4	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:31483602C>T	uc002rnu.3	+	3	1337	c.729C>T	c.(727-729)atC>atT	p.I243I	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	243					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					TGGGGAAGATCGTGAACACCC	0.592													T	31483602	C	T	31483602	2	4	53	1	0	0	0	0	0	0	0	1	5018	874	31	1		1	EHD3	2	31483602	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		31483602	211715771	6	3246											
SLC35F5	80255	broad.mit.edu	37	chr2	114489225	114489225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagtacaacgcctccaatGctatgagaataacagtcatt	15	9	6	11	1	1	1	1	1	0	1	2	2	2	1	3	0	4	2	3	0	6	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:114489225G>T	uc002tku.1	-	10	1335	c.921_splice	c.e10-1	p.S307_splice	SLC35F5_uc002tkt.3_Splice_Site	NM_025181	NP_079457	Q8WV83	S35F5_HUMAN	Homo sapiens solute carrier family 35, member F5 (SLC35F5), mRNA.	307	DUF6.				transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CGCCTCCAATGCTATGAGAAT	0.373													T	114489225	G	T	114489225	3	4	53	1	0	0	0	0	1	0	0	0	14686	1333	46	4	674	4	SLC35F5	2	114489225	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	83005623	114489225	128710148	7	3247											
GCA	25801	broad.mit.edu	37	chr2	163204201	163204201	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcatattcagacacttaTtcctcagctggtgactccgt	9	12	7	13	1	2	2	2	1	0	1	4	2	4	2	3	1	2	2	3	1	2	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:163204201T>C	uc002ucg.3	+	1	317	c.141T>C	c.(139-141)taT>taC	p.Y47Y		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	47					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CAGACACTTATTCCTCAGCTG	0.443													C	163204201	T	C	163204201	2	2	53	1	0	0	0	0	0	0	0	1	6337	1500	52	3		3	GCA	2	163204201	Silent	SNP	T	TCGA-06-0645-01A-01D-1492-08	48714976	163204201	79995172	8	3248											
ITGA4	3676	broad.mit.edu	37	chr2	182374515	182374515	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcagcagaagaaagaaaAagacataatgaaaaaaacag	24	5	7	5	0	2	5	1	1	1	4	2	5	2	5	0	0	2	1	0	0	8	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:182374515A>C	uc002unu.3	+	15	2589	c.1826A>C	c.(1825-1827)aAa>aCa	p.K609T	ITGA4_uc010frj.1_Missense_Mutation_p.K91T	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	609					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	AAGAAAGAAAAAGACATAATG	0.333													C	182374515	A	C	182374515	3	2	53	1	0	0	0	0	1	0	0	0	7936	14	1	5	1888	5	ITGA4	2	182374515	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	19170314	182374515	60824858	9	3249											
COL4A4	1286	broad.mit.edu	37	chr2	227924195	227924195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagacccctctttcccGggggtcccaggtgaccaaat	9	8	10	14	1	1	3	0	2	1	1	3	3	3	3	5	3	0	0	5	3	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr2:227924195G>A	uc021vxr.1	-	26	2410	c.2309C>T	c.(2308-2310)cCg>cTg	p.P770L	COL4A4_uc021vxs.1_Missense_Mutation_p.P770L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	770	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTCTTTCCCGGGGGTCCCAG	0.612													A	227924195	G	A	227924195	3	1	53	1	0	0	0	0	1	0	0	0	3724	1116	39	1	2847	1	COL4A4	2	227924195	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	45549680	227924195	15275178	10	3250											
LTF	4057	broad.mit.edu	37	chr3	46490484	46490484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccacacgacccgcgcaCgccgggcagccacttcctcc	8	3	8	22	5	0	0	0	0	0	0	2	1	2	0	6	1	1	2	6	1	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:46490484C>T	uc003cpq.3	-	8	1323	c.1082G>A	c.(1081-1083)cGt>cAt	p.R361H	LTF_uc003fzr.3_Missense_Mutation_p.R317H|LTF_uc010hjh.3_Missense_Mutation_p.R361H|LTF_uc003cpr.3_Missense_Mutation_p.R348H	NM_002343	NP_001186078	P02788	TRFL_HUMAN	Homo sapiens lactotransferrin (LTF), transcript variant 1, mRNA.	361					cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	GACCCGCGCACGCCGGGCAGC	0.667													T	46490484	C	T	46490484	3	4	53	1	0	0	0	0	1	0	0	0	9149	536	19	1	1086	1	LTF	3	46490484	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		46490484	151531946	11	3251											
DHX30	22907	broad.mit.edu	37	chr3	47890010	47890010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtccaaacatcaaggcagtgGacgaggctgtgatcttgctc	10	9	12	10	1	2	1	1	1	1	0	4	3	3	2	1	3	2	3	1	3	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:47890010G>A	uc003cru.3	+	15	2971	c.2545G>A	c.(2545-2547)Gac>Aac	p.D849N	DHX30_uc003crt.3_Missense_Mutation_p.D810N|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	849						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CAAGGCAGTGGACGAGGCTGT	0.622													A	47890010	G	A	47890010	3	1	53	1	0	0	0	0	1	0	0	0	4543	1174	41	2	2610	2	DHX30	3	47890010	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	1399526	47890010	150132420	12	3252											
IFRD2	7866	broad.mit.edu	37	chr3	50327467	50327467	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagggcccagctgcaCgcagagcaggcctagcacag	10	3	14	14	1	0	1	0	0	0	1	1	1	1	1	3	3	4	5	3	3	1	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:50327467C>G	uc003czb.3	-	7	937	c.937G>C	c.(937-939)Gtg>Ctg	p.V313L	IFRD2_uc011bdp.2_Missense_Mutation_p.V211L	NM_006764	NP_006755	Q12894	IFRD2_HUMAN	Homo sapiens interferon-related developmental regulator 2 (IFRD2), mRNA.	211							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CCCAGCTGCACGCAGAGCAGG	0.637													G	50327467	C	G	50327467	3	3	53	1	0	0	0	0	1	0	0	0	7612	536	19	4	921	4	IFRD2	3	50327467	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	2437457	50327467	147694963	13	3253											
GPR15	2838	broad.mit.edu	37	chr3	98251667	98251667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaatactttcaagttcctgGccattgtctctgggttgcgg	6	15	10	10	1	3	0	2	0	1	0	5	0	4	0	2	3	2	2	2	3	3	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:98251667G>A	uc011bgy.2	+	0	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	264						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAAGTTCCTGGCCATTGTCTC	0.453													A	98251667	G	A	98251667	3	1	53	1	0	0	0	0	1	0	0	0	6709	1203	42	2	792	2	GPR15	3	98251667	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	47924200	98251667	99770763	14	3254											
TRPC1	7220	broad.mit.edu	37	chr3	142524983	142524983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggaaaatctaaacgAactgcgccaagatctgtcaa	16	8	8	9	2	3	1	1	0	2	1	3	3	3	2	1	1	4	0	1	1	8	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr3:142524983A>G	uc003evc.3	+	12	2424	c.2288A>G	c.(2287-2289)gAa>gGa	p.E763G	TRPC1_uc003evb.3_Missense_Mutation_p.E729G	NM_001251845	NP_001238774	P48995	TRPC1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 1 (TRPC1), transcript variant 1, mRNA.	763					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						AATCTAAACGAACTGCGCCAA	0.373													G	142524983	A	G	142524983	3	3	53	1	0	0	0	0	1	0	0	0	16679	246	9	3	2232	3	TRPC1	3	142524983	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	44273316	142524983	55497447	15	3255											
CPZ	8532	broad.mit.edu	37	chr4	8605806	8605806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgtgctgaggcggacGgcctcccgctgcgcccacgt	3	7	16	15	6	0	1	0	1	0	0	1	2	1	2	3	3	3	2	3	3	0	0			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:8605806G>A	uc003glm.3	+	3	774	c.600G>A	c.(598-600)acG>acA	p.T200T	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.T189T|CPZ_uc003gln.3_Silent_p.T63T	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	200				T -> M (in Ref. 4; BC006393).	proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGAGGCGGACGGCCTCCCGCT	0.701													A	8605806	G	A	8605806	2	1	53	1	0	0	0	0	0	0	0	1	3870	1103	39	1		1	CPZ	4	8605806	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		8605806	182548470	16	3256											
FRAS1	80144	broad.mit.edu	37	chr4	79366682	79366682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgttgatgcaggtgatcGttttggccctgaaactgcca	8	13	12	8	1	0	4	0	4	0	0	1	4	0	4	2	2	3	3	2	2	1	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:79366682G>A	uc003hlb.2	+	41	6112	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	FRAS1_uc003hkw.3_Missense_Mutation_p.R1891H|FRAS1_uc010ijj.2_Missense_Mutation_p.R311H	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1890					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCAGGTGATCGTTTTGGCCCT	0.393													A	79366682	G	A	79366682	3	1	53	1	0	0	0	0	1	0	0	0	6093	1145	40	1	5838	1	FRAS1	4	79366682	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	70760876	79366682	111787594	17	3257											
ALPK1	80216	broad.mit.edu	37	chr4	113351620	113351620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagaatatccgtggcacgtGtttattgtcctacagtagtt	9	14	9	9	2	0	1	0	0	0	1	2	1	2	1	3	1	1	4	3	1	5	7			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:113351620G>T	uc003ian.4	+	10	1144	c.917G>T	c.(916-918)tGt>tTt	p.C306F	ALPK1_uc003iap.4_Missense_Mutation_p.C306F|ALPK1_uc011cfx.2_Missense_Mutation_p.C228F|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.C134F	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	306							ATP binding|protein serine/threonine kinase activity	p.T305T(1)		NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CGTGGCACGTGTTTATTGTCC	0.398													T	113351620	G	T	113351620	3	4	53	1	0	0	0	0	1	0	0	0	544	1377	48	4	951	4	ALPK1	4	113351620	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	33984938	113351620	77802656	18	3258											
PRSS48	345062	broad.mit.edu	37	chr4	152203364	152203364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaggtgactcaaggaaaCgtgtgaagtactacgtgtcc	12	9	12	8	2	1	2	1	2	0	0	2	3	2	3	1	2	3	2	1	2	6	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr4:152203364C>T	uc011cif.2	+	2	280	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PRSS48_uc011cig.2_Intron	NM_183375	NP_899231	Q7RTY5	PRS48_HUMAN	Homo sapiens protease, serine, 48 (PRSS48), mRNA.	94	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						CTCAAGGAAACGTGTGAAGTA	0.473													T	152203364	C	T	152203364	3	4	53	1	0	0	0	0	1	0	0	0	12715	536	19	1	290	1	PRSS48	4	152203364	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	38851744	152203364	38950912	19	3259											
CDH18	1016	broad.mit.edu	37	chr5	19520782	19520782	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacctggccaggcttagaaTtttcacatacaataatatca	14	13	5	9	0	2	1	2	0	0	1	2	1	2	1	2	2	2	1	2	2	7	7			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:19520782T>A	uc003jgd.3	-	9	2030	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	CDH18_uc011cnm.2_Missense_Mutation_p.N499I|CDH18_uc003jgc.3_Missense_Mutation_p.N499I|CDH18_uc021xwu.1_Missense_Mutation_p.N499I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	499	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AGGCTTAGAATTTTCACATAC	0.393													A	19520782	T	A	19520782	3	1	53	1	0	0	0	0	1	0	0	0	3133	1493	52	5	892	5	CDH18	5	19520782	Missense_Mutation	SNP	T	TCGA-06-0645-01A-01D-1492-08		19520782	161394478	20	3260											
PLCXD3	345557	broad.mit.edu	37	chr5	41382221	41382221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaacttcctgggcaaaaatCgctgggcacattttatttcc	10	13	7	11	1	0	0	0	0	0	0	3	0	2	0	2	2	1	3	2	2	4	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:41382221C>T	uc003jmm.1	-	1	621	c.519G>A	c.(517-519)gcG>gcA	p.A173A		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	173	PI-PLC X-box.				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						GGGCAAAAATCGCTGGGCACA	0.428													T	41382221	C	T	41382221	2	4	53	1	0	0	0	0	0	0	0	1	12120	871	31	1		1	PLCXD3	5	41382221	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	21861439	41382221	139533039	21	3261											
FGF18	8817	broad.mit.edu	37	chr5	170883763	170883763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttcaagtacacgaCggtgaccaagaggtcccgtc	11	6	11	13	3	1	2	1	1	0	1	3	4	2	2	3	2	2	1	3	2	4	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr5:170883763C>T	uc003mbk.3	+	4	1115	c.578C>T	c.(577-579)aCg>aTg	p.T193M		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	193					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AAGTACACGACGGTGACCAAG	0.657													T	170883763	C	T	170883763	3	4	53	1	0	0	0	0	1	0	0	0	5895	536	19	1	596	1	FGF18	5	170883763	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	129501542	170883763	10031497	22	3262											
BCLAF1	9774	broad.mit.edu	37	chr6	136600997	136600997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtgatctagaattggagCgacccatttcttttctccta	10	15	7	9	1	3	2	0	1	3	1	4	4	3	3	2	1	1	0	2	1	4	6	rs148729378	byFrequency	TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:136600997C>T	uc003qgx.1	-	2	261	c.8G>A	c.(7-9)cGc>cAc	p.R3H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R3H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R3H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R3H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	3					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R3H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AGAATTGGAGCGACCCATTTC	0.308													T	136600997	C	T	136600997	3	4	53	1	0	0	0	0	1	0	0	0	1388	768	27	1	2798	1	BCLAF1	6	136600997	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		136600997	34514070	23	3263											
ESR1	2099	broad.mit.edu	37	chr6	152265483	152265483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttgtccctgacggcCgaccagatggtcagtgcctt	5	10	12	14	2	1	2	1	1	0	1	2	3	2	2	5	3	1	0	5	3	0	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152265483C>T	uc010kio.3	+	4	1160	c.942C>T	c.(940-942)gcC>gcT	p.A314A	ESR1_uc003qom.4_Silent_p.A312A|ESR1_uc010kin.3_Silent_p.A312A|ESR1_uc010kip.3_Silent_p.A311A|ESR1_uc003qon.4_Silent_p.A312A|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Silent_p.A312A|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Intron|ESR1_uc011eeu.2_Intron|ESR1_uc011eev.2_Intron|ESR1_uc011eew.2_Intron|ESR1_uc011eet.2_Intron|ESR1_uc010kis.3_Intron|ESR1_uc021zha.1_Intron|ESR1_uc011eex.2_Silent_p.A93A|ESR1_uc010kit.1_Silent_p.A49A|ESR1_uc011eey.2_Silent_p.A49A	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	312	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding	p.A312A(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CCCTGACGGCCGACCAGATGG	0.547													T	152265483	C	T	152265483	2	4	53	1	0	0	0	0	0	0	0	1	5297	639	23	1		1	ESR1	6	152265483	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	15664486	152265483	18849584	24	3264											
SYNE1	23345	broad.mit.edu	37	chr6	152461284	152461284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctggagaagctcccatCggtcaatcacacctggcaag	10	6	12	13	1	2	1	2	0	0	1	4	2	3	1	3	4	1	2	3	4	3	0			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr6:152461284C>T	uc021zhb.1	-	137	25482	c.25259G>A	c.(25258-25260)cGa>cAa	p.R8420Q	SYNE1_uc003qos.4_Missense_Mutation_p.R2944Q|SYNE1_uc003qot.4_Missense_Mutation_p.R8372Q|SYNE1_uc003qou.4_Missense_Mutation_p.R8420Q|SYNE1_uc011eez.2_Missense_Mutation_p.R622Q|SYNE1_uc003qoq.4_Missense_Mutation_p.R622Q|SYNE1_uc003qor.4_Missense_Mutation_p.R1343Q	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8420					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)		AAGCTCCCATCGGTCAATCAC	0.458										HNSCC(10;0.0054)			T	152461284	C	T	152461284	3	4	53	1	0	0	0	0	1	0	0	0	15542	884	31	1	1162	1	SYNE1	6	152461284	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	195801	152461284	18653783	25	3265											
ADAM22	53616	broad.mit.edu	37	chr7	87795154	87795154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggatctcaggtttgcaGtaatgagctgaagtgtgtgt	8	16	13	4	0	1	2	1	2	1	0	2	3	1	3	0	2	2	4	0	2	2	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:87795154G>A	uc003ujn.3	+	23	2299	c.2084G>A	c.(2083-2085)aGt>aAt	p.S695N	ADAM22_uc003ujk.2_Missense_Mutation_p.S695N|ADAM22_uc003ujl.2_Missense_Mutation_p.S695N|ADAM22_uc003ujm.3_Missense_Mutation_p.S695N|ADAM22_uc003ujo.3_Missense_Mutation_p.S695N|ADAM22_uc003ujp.1_Missense_Mutation_p.S747N	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	695	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTTTGCAGTAATGAGCTG	0.368													A	87795154	G	A	87795154	3	1	53	1	0	0	0	0	1	0	0	0	244	1029	36	2	2178	2	ADAM22	7	87795154	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		87795154	71343509	26	3266											
ZNF3	7551	broad.mit.edu	37	chr7	99672770	99672770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttacccagtgagaacaCattcccgtaattctccagca	11	10	5	15	1	1	1	0	1	1	1	4	2	3	1	4	0	3	2	4	0	3	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:99672770C>G	uc003uss.3	-	1	598	c.280G>C	c.(280-282)Gtg>Ctg	p.V94L	ZNF3_uc003usp.3_Missense_Mutation_p.V87L|ZNF3_uc003usq.3_Missense_Mutation_p.V87L|ZNF3_uc010lgj.3_Missense_Mutation_p.V51L|ZNF3_uc003usr.3_Missense_Mutation_p.V87L|ZNF3_uc003ust.4_Missense_Mutation_p.V87L			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	87	KRAB.				cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			AGTGAGAACACATTCCCGTAA	0.458													G	99672770	C	G	99672770	3	3	53	1	0	0	0	0	1	0	0	0	17930	478	17	4	1218	4	ZNF3	7	99672770	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	11877616	99672770	59465893	27	3267											
MUC17	140453	broad.mit.edu	37	chr7	100674888	100674888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatcttaaacaggttctgCggcaaacaccgccacaggta	12	9	9	11	2	2	0	0	0	2	0	2	0	2	0	2	3	3	4	2	3	5	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:100674888C>T	uc003uxp.1	+	2	244	c.191C>T	c.(190-192)gCg>gTg	p.A64V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	64						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)					ACAGGTTCTGCGGCAAACACC	0.418													T	100674888	C	T	100674888	3	4	53	1	0	0	0	0	1	0	0	0	10050	768	27	1	201	1	MUC17	7	100674888	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	1002118	100674888	58463775	28	3268											
CCDC136	64753	broad.mit.edu	37	chr7	128434467	128434469	+	In_Frame_Del	DEL	GAA	GAA	-																															aagaggaggaagaagaggtgGaagaagaagaagaacaagtg																										TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:128434467_128434469delGAA	uc003vnv.2	+	1	498_500	c.82_84delGAA	c.(82-84)gaadel	p.E32del	CCDC136_uc003vnu.2_In_Frame_Del_p.E82del	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	32	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						agaagaggtggaagaagaagaag	0.552													-	128434469	GAA	-	128434467	7	5	53	1	0	1	0	1	0	0	0	0	2796	1175	41	0	88	0	CCDC136	7	128434467	In_Frame_Del	DEL	GAA	TCGA-06-0645-01A-01D-1492-08	27759579	128434467	30704196	29	3269											
TAS2R41	259287	broad.mit.edu	37	chr7	143174982	143174982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagcagcactgaCggccttcttcgtgttgctct	8	11	10	12	2	2	2	0	1	2	1	3	2	2	2	1	1	4	5	1	1	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143174982C>T	uc003wdc.1	+	0	17	c.17C>T	c.(16-18)aCg>aTg	p.T6M	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCAGCACTGACGGCCTTCTTC	0.572													T	143174982	C	T	143174982	3	4	53	1	0	0	0	0	1	0	0	0	15676	536	19	1	19	1	TAS2R41	7	143174982	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	14740515	143174982	15963681	30	3270											
TAS2R41	259287	broad.mit.edu	37	chr7	143175836	143175836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcagcaacctcaagcttCgaagcgtgttctcgcagctc	8	11	8	14	3	4	0	2	0	2	0	7	1	4	0	1	0	5	5	1	0	3	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr7:143175836C>T	uc003wdc.1	+	0	871	c.871C>T	c.(871-873)Cga>Tga	p.R291*	LOC285965_uc003wda.3_Intron	NM_176883	NP_795364	P59536	T2R41_HUMAN	Homo sapiens taste receptor, type 2, member 41 (TAS2R41), mRNA.	291					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CCTCAAGCTTCGAAGCGTGTT	0.502													T	143175836	C	T	143175836	4	4	53	1	0	0	0	0	0	1	0	0	15676	876	31	1	873	1	TAS2R41	7	143175836	Nonsense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	854	143175836	15962827	31	3271											
KCNB2	9312	broad.mit.edu	37	chr8	73849053	73849053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgacgataatcacctgtCgccaagccggtggaagtggg	9	6	14	12	5	1	0	1	0	0	0	2	3	1	1	4	3	1	0	4	3	3	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:73849053C>T	uc003xzb.3	+	2	2051	c.1463C>T	c.(1462-1464)tCg>tTg	p.S488L		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	488					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AATCACCTGTCGCCAAGCCGG	0.527													T	73849053	C	T	73849053	3	4	53	1	0	0	0	0	1	0	0	0	8071	893	31	1	1469	1	KCNB2	8	73849053	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		73849053	72514969	32	3272											
KIAA1429	25962	broad.mit.edu	37	chr8	95547143	95547143	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggtggagagtcTctgtcatgacttatcactct	6	14	14	7	0	4	2	2	1	2	1	5	3	4	2	0	5	0	0	0	5	1	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:95547143T>C	uc003ygo.2	-	4	479	c.408A>G	c.(406-408)agA>agG	p.R136R	KIAA1429_uc003ygp.3_Silent_p.R136R	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	136					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			gtggAGAGTCTCTGTCATGAC	0.448													C	95547143	T	C	95547143	2	2	53	1	0	0	0	0	0	0	0	1	8289	1548	54	3		3	KIAA1429	8	95547143	Silent	SNP	T	TCGA-06-0645-01A-01D-1492-08	21698090	95547143	50816879	33	3273											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476724	110476724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtaccagtcttctgaatGatgatgtgaccccggctgca	11	10	10	10	1	2	4	0	4	2	0	2	4	2	4	3	1	2	3	3	1	3	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:110476724G>A	uc003yne.3	+	48	7767	c.7663G>A	c.(7663-7665)Gat>Aat	p.D2555N		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2555					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2557N(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCTTCTGAATGATGATGTGAC	0.443										HNSCC(38;0.096)			A	110476724	G	A	110476724	3	1	53	1	0	0	0	0	1	0	0	0	12049	1290	45	2	7857	2	PKHD1L1	8	110476724	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	14929581	110476724	35887298	34	3274											
SLC45A4	57210	broad.mit.edu	37	chr8	142229845	142229845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccctcggtggcatcggCgctgaagtccaggaccacca	7	5	14	15	3	0	1	0	1	0	0	3	2	1	2	5	5	0	2	5	5	1	0			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr8:142229845C>T	uc003ywd.1	-	2	669	c.361G>A	c.(361-363)Gcc>Acc	p.A121T	SLC45A4_uc003ywc.1_Missense_Mutation_p.A121T|SLC45A4_uc010meq.1_Missense_Mutation_p.A119T	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	172					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GTGGCATCGGCGCTGAAGTCC	0.657													T	142229845	C	T	142229845	3	4	53	1	0	0	0	0	1	0	0	0	14737	768	27	1	2059	1	SLC45A4	8	142229845	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	31753121	142229845	4134177	35	3275											
CYLC2	1539	broad.mit.edu	37	chr9	105767804	105767804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtctaagaaggacgccacGaaagatgccaagaaagttgc	16	5	12	8	2	1	3	0	0	1	3	1	6	1	4	2	1	2	1	2	1	5	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr9:105767804G>A	uc004bbs.2	+	4	961	c.891G>A	c.(889-891)acG>acA	p.T297T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	297	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton	p.T297T(4)|p.A296A(1)|p.T297M(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				aggacgccacgaaagatgcca	0.388													A	105767804	G	A	105767804	2	1	53	1	0	0	0	0	0	0	0	1	4175	1045	37	1		1	CYLC2	9	105767804	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		105767804	35445627	36	3276											
SMC3	9126	broad.mit.edu	37	chr10	112328741	112328741	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagatcaaacaattgtaGatcccttcagttcaaaacat	17	10	5	9	0	3	2	3	0	0	2	4	3	4	2	1	0	2	2	1	0	5	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112328741G>C	uc001kze.3	+	1	187	c.61G>C	c.(61-63)Gat>Cat	p.D21H		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	21					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACAATTGTAGATCCCTTCAG	0.308													C	112328741	G	C	112328741	3	2	53	1	0	0	0	0	1	0	0	0	14878	942	33	4	67	4	SMC3	10	112328741	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08		112328741	23206006	37	3277											
SMC3	9126	broad.mit.edu	37	chr10	112341821	112341821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaatataccatttacaatCaggaacttaacgagactcgt	15	11	7	8	2	1	1	1	0	0	1	2	4	1	3	1	2	4	0	1	2	7	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:112341821C>G	uc001kze.3	+	8	814	c.688C>G	c.(688-690)Cag>Gag	p.Q230E		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	230					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		CATTTACAATCAGGAACTTAA	0.343													G	112341821	C	G	112341821	3	3	53	1	0	0	0	0	1	0	0	0	14878	827	29	4	722	4	SMC3	10	112341821	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	13080	112341821	23192926	38	3278											
NHLRC2	374354	broad.mit.edu	37	chr10	115668096	115668096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatagagaacatttccaGtcaaccaacaatttcactac	17	10	4	10	0	2	2	2	0	0	2	3	3	3	2	2	0	4	0	2	0	7	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr10:115668096G>A	uc001lax.2	+	10	2223	c.1982G>A	c.(1981-1983)aGt>aAt	p.S661N	NHLRC2_uc001lay.2_Non-coding_Transcript	NM_198514	NP_940916	Q8NBF2	NHLC2_HUMAN	Homo sapiens NHL repeat containing 2 (NHLRC2), mRNA.	661					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AACATTTCCAGTCAACCAACA	0.348													A	115668096	G	A	115668096	3	1	53	1	0	0	0	0	1	0	0	0	10482	1029	36	2	2024	2	NHLRC2	10	115668096	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	3326275	115668096	19866651	39	3279											
DAGLA	747	broad.mit.edu	37	chr11	61490356	61490356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgatcgagttcatctaCgccatcgtgggcatcgtctg	6	12	12	11	4	3	1	1	1	2	0	6	2	3	1	1	2	1	2	1	2	1	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:61490356C>T	uc001nsa.3	+	3	449	c.333C>T	c.(331-333)taC>taT	p.Y111Y		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	111					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		AGTTCATCTACGCCATCGTGG	0.607													T	61490356	C	T	61490356	2	4	53	1	0	0	0	0	0	0	0	1	4260	547	19	1		1	DAGLA	11	61490356	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		61490356	73516160	40	3280											
CPT1A	1374	broad.mit.edu	37	chr11	68579934	68579934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtccgattgatttttgcAattattcctaacgaggggtc	10	14	10	7	2	0	2	0	1	0	1	3	4	2	2	2	2	2	1	2	2	3	6			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:68579934A>G	uc001oog.4	-	2	422	c.252T>C	c.(250-252)atT>atC	p.I84I	CPT1A_uc001oof.4_Silent_p.I84I	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	84					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	TGATTTTTGCAATTATTCCTA	0.473													G	68579934	A	G	68579934	2	3	53	1	0	0	0	0	0	0	0	1	3862	126	5	3		3	CPT1A	11	68579934	Silent	SNP	A	TCGA-06-0645-01A-01D-1492-08	7089578	68579934	66426582	41	3281											
P2RY2	5029	broad.mit.edu	37	chr11	72945705	72945705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcctgccaggccccCgtgctctactttgtcaccac	4	10	10	17	1	2	0	1	0	1	0	2	0	2	0	5	2	4	2	5	2	1	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:72945705C>T	uc021qna.1	+	0	501	c.501C>T	c.(499-501)ccC>ccT	p.P167P	P2RY2_uc001otk.3_Silent_p.P167P|P2RY2_uc001otj.3_Silent_p.P167P|P2RY2_uc001otl.3_Silent_p.P167P	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	167					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCAGGCCCCCGTGCTCTACT	0.721													T	72945705	C	T	72945705	2	4	53	1	0	0	0	0	0	0	0	1	11428	639	23	1		1	P2RY2	11	72945705	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	4365771	72945705	62060811	42	3282											
ST14	6768	broad.mit.edu	37	chr11	130069961	130069961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccagggccacatctgCggtgcttccctcatctctcc	4	10	10	17	1	3	0	1	0	2	0	6	0	5	0	4	3	2	1	4	3	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr11:130069961C>T	uc001qfw.3	+	15	2116	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	641	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GCCACATCTGCGGTGCTTCCC	0.627													T	130069961	C	T	130069961	2	4	53	1	0	0	0	0	0	0	0	1	15307	776	27	1		1	ST14	11	130069961	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	57124256	130069961	4936555	43	3283											
SLC38A2	54407	broad.mit.edu	37	chr12	46757576	46757576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatagcaaaaaatgaaatCttggacacattcatcattct	18	11	4	8	0	4	1	2	1	2	0	4	2	4	2	0	1	2	1	0	1	6	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:46757576C>T	uc001rpg.3	-	11	1427	c.987G>A	c.(985-987)aaG>aaA	p.K329K	SLC38A2_uc010sli.2_Silent_p.K167K|SLC38A2_uc001rph.3_Silent_p.K229K	NM_018976	NP_061849	Q96QD8	S38A2_HUMAN	Homo sapiens solute carrier family 38, member 2 (SLC38A2), mRNA.	329					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		AAAATGAAATCTTGGACACAT	0.353													T	46757576	C	T	46757576	2	4	53	1	0	0	0	0	0	0	0	1	14698	912	32	2		2	SLC38A2	12	46757576	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08		46757576	87094319	44	3284											
BAZ2A	11176	broad.mit.edu	37	chr12	57005685	57005685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctggggaagttacgggaGaggcttttggggatgtcact	7	11	17	6	1	1	1	1	0	0	1	1	4	1	3	0	6	2	3	0	6	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:57005685G>A	uc001slq.1	-	5	1681	c.1487C>T	c.(1486-1488)tCt>tTt	p.S496F	BAZ2A_uc001slp.1_Missense_Mutation_p.S494F|BAZ2A_uc009zow.1_Missense_Mutation_p.S464F	NM_013449	NP_038477	Q9UIF9	BAZ2A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2A (BAZ2A), mRNA.	496					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						AGTTACGGGAGAGGCTTTTGG	0.542													A	57005685	G	A	57005685	3	1	53	1	0	0	0	0	1	0	0	0	1336	942	33	2	4326	2	BAZ2A	12	57005685	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	10248109	57005685	76846210	45	3285											
ALDH1L2	160428	broad.mit.edu	37	chr12	105455479	105455479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccgttgaaaagtactGagaggcagggatcatttttc	11	11	10	9	1	2	2	2	2	0	1	3	4	2	3	1	2	1	3	1	2	3	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:105455479G>T	uc001tlc.3	-	7	1100	c.973C>A	c.(973-975)Cag>Aag	p.Q325K	ALDH1L2_uc009zuo.3_5'UTR|ALDH1L2_uc009zup.3_Non-coding_Transcript	NM_001034173	NP_001029345	Q3SY69	AL1L2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member L2 (ALDH1L2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GAAAAGTACTGAGAGGCAGGG	0.408													T	105455479	G	T	105455479	3	4	53	1	0	0	0	0	1	0	0	0	495	1299	45	4	1862	4	ALDH1L2	12	105455479	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	48449794	105455479	28396416	46	3286											
TRPV4	59341	broad.mit.edu	37	chr12	110230485	110230485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatgctataggtccccGtcagcttcagcccacgggtg	7	10	11	13	2	3	1	3	1	0	0	4	1	4	1	3	2	3	2	3	2	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:110230485G>A	uc001tpj.2	-	9	1891	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	TRPV4_uc001tpg.2_Missense_Mutation_p.T565M|TRPV4_uc021rdp.1_Missense_Mutation_p.T539M|TRPV4_uc001tph.2_Missense_Mutation_p.T552M|TRPV4_uc001tpi.2_Missense_Mutation_p.T492M|TRPV4_uc001tpk.2_Missense_Mutation_p.T599M	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	599					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.T599T(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						ATAGGTCCCCGTCAGCTTCAG	0.582													A	110230485	G	A	110230485	3	1	53	1	0	0	0	0	1	0	0	0	16699	1145	40	1	843	1	TRPV4	12	110230485	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	4775006	110230485	23621410	47	3287											
DNAH10	196385	broad.mit.edu	37	chr12	124330629	124330629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacctttggctacggctaCgagtacatgggcctgaacgg	9	8	14	10	3	0	1	0	1	0	0	0	3	0	2	2	5	5	3	2	5	5	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr12:124330629C>T	uc001uft.4	+	30	5413	c.5388C>T	c.(5386-5388)taC>taT	p.Y1796Y		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1796	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GCTACGGCTACGAGTACATGG	0.587													T	124330629	C	T	124330629	2	4	53	1	0	0	0	0	0	0	0	1	4637	547	19	1		1	DNAH10	12	124330629	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	14100144	124330629	9521266	48	3288											
NYNRIN	57523	broad.mit.edu	37	chr14	24878300	24878300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaagcccagctggtagaCcagatggggggctgggagga	11	4	18	8	0	0	3	0	0	0	3	0	5	0	5	2	6	2	3	2	6	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:24878300C>A	uc001wpf.4	+	3	1618	c.1300C>A	c.(1300-1302)Cca>Aca	p.P434T		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	434					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGCTGGTAGACCAGATGGGGG	0.552													A	24878300	C	A	24878300	3	1	53	1	0	0	0	0	1	0	0	0	10872	507	18	4	1310	4	NYNRIN	14	24878300	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		24878300	82471240	49	3289											
PLEK2	26499	broad.mit.edu	37	chr14	67864439	67864439	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccatccaggaggatccgGcccttgggaggggtcactct	7	7	14	13	1	2	0	1	0	1	0	4	3	4	3	4	6	1	0	4	6	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr14:67864439G>T	uc001xjh.1	-	1	199	c.147C>A	c.(145-147)ggC>ggA	p.G49G		NM_016445	NP_057529	Q9NYT0	PLEK2_HUMAN	Homo sapiens pleckstrin 2 (PLEK2), mRNA.	49	PH 1.				actin cytoskeleton organization|intracellular signal transduction	cytoplasm|cytoskeleton|lamellipodium membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	15				all cancers(60;0.000728)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.00953)		GGAGGATCCGGCCCTTGGGAG	0.592													T	67864439	G	T	67864439	2	4	53	1	0	0	0	0	0	0	0	1	12131	1190	42	4		4	PLEK2	14	67864439	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	42986139	67864439	39485101	50	3290											
CHRNB4	1143	broad.mit.edu	37	chr15	78921872	78921872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcatcttctcgccgcagtCggatggcaggtagaagacga	9	9	13	10	4	3	2	1	0	2	2	5	4	3	3	1	3	0	3	1	3	2	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:78921872C>T	uc002bed.1	-	4	887	c.775G>A	c.(775-777)Gac>Aac	p.D259N	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Missense_Mutation_p.D77N	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	259					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCGCCGCAGTCGGATGGCAGG	0.557													T	78921872	C	T	78921872	3	4	53	1	0	0	0	0	1	0	0	0	3423	884	31	1	729	1	CHRNB4	15	78921872	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		78921872	23609520	51	3291											
RASGRF1	5923	broad.mit.edu	37	chr15	79292172	79292172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatggcaaaggcagaggCggccgacaaggcactgcggt	10	5	16	10	3	0	1	0	0	0	1	0	2	0	1	1	6	2	4	1	6	3	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:79292172C>T	uc002beq.3	-	17	3082	c.2707G>A	c.(2707-2709)Gcc>Acc	p.A903T	RASGRF1_uc002bep.3_Missense_Mutation_p.A887T|RASGRF1_uc010blm.1_Missense_Mutation_p.A812T|RASGRF1_uc002ber.4_Missense_Mutation_p.A887T|RASGRF1_uc010unh.1_Missense_Mutation_p.A298T|RASGRF1_uc002beo.3_Missense_Mutation_p.A119T	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	905					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.A903T(2)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGGCAGAGGCGGCCGACAAG	0.562													T	79292172	C	T	79292172	3	4	53	1	0	0	0	0	1	0	0	0	13160	768	27	1	1158	1	RASGRF1	15	79292172	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	370300	79292172	23239220	52	3292											
NTRK3	4916	broad.mit.edu	37	chr15	88576210	88576210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgacgagggcgtggtgAtgccgtggttgatgtggtgc	5	10	19	7	3	0	3	0	3	0	0	0	4	0	3	2	4	2	1	2	4	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr15:88576210A>G	uc002bme.2	-	13	1769	c.1463T>C	c.(1462-1464)aTc>aCc	p.I488T	NTRK3_uc002bmh.2_Missense_Mutation_p.I480T|NTRK3_uc002bmf.2_Missense_Mutation_p.I488T|NTRK3_uc021sua.1_Missense_Mutation_p.I480T|NTRK3_uc010upl.1_Missense_Mutation_p.I390T|NTRK3_uc010bnh.1_Missense_Mutation_p.I480T|NTRK3_uc002bmg.3_Missense_Mutation_p.I488T|NTRK3_uc010bni.2_Non-coding_Transcript	NM_001012338	NP_001012338	Q16288	NTRK3_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 3 (NTRK3), transcript variant 1, mRNA.	488					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.I488T(2)|p.I488I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGGCGTGGTGATGCCGTGGTT	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			G	88576210	A	G	88576210	3	3	53	1	0	0	0	0	1	0	0	0	10784	333	12	3	1346	3	NTRK3	15	88576210	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	9284038	88576210	13955182	53	3293											
SEPT12	124404	broad.mit.edu	37	chr16	4834042	4834042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtactgctcgtattgctcGttgatgtagcccaggatggg	7	12	14	8	2	0	1	0	1	0	0	2	2	0	2	1	3	4	6	1	3	3	5			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:4834042G>A	uc002cxq.3	-	4	666	c.402C>T	c.(400-402)aaC>aaT	p.N134N	SEPT12_uc002cxr.3_Intron|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	134					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						CGTATTGCTCGTTGATGTAGC	0.627													A	4834042	G	A	4834042	2	1	53	1	0	0	0	0	0	0	0	1	14155	1136	40	1		1	SEPT12	16	4834042	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		4834042	85520711	54	3294											
IQCK	124152	broad.mit.edu	37	chr16	19729642	19729642	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccatggcggcaccgcGgcaaatccccagccacatag	9	3	12	17	5	0	0	0	0	0	0	1	0	1	0	5	4	1	2	5	4	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr16:19729642G>C	uc002dgr.3	+	1	713	c.14G>C	c.(13-15)cGg>cCg	p.R5P	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.R5P|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	5										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						GCGGCACCGCGGCAAATCCCC	0.692													C	19729642	G	C	19729642	3	2	53	1	0	0	0	0	1	0	0	0	7871	1116	39	4	16	4	IQCK	16	19729642	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	14895600	19729642	70625111	55	3295											
ODF4	146852	broad.mit.edu	37	chr17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacaggtccttgggccagCgccagaactctccgctgccc	7	7	11	16	2	1	1	0	0	1	1	3	1	2	1	5	2	4	2	5	2	2	2	rs147153349		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:8243550C>T	uc002gle.1	+	0	363	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592													T	8243550	C	T	8243550	3	4	53	1	0	0	0	0	1	0	0	0	10909	768	27	1	183	1	ODF4	17	8243550	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		8243550	72951660	56	3296											
RHBDL3	162494	broad.mit.edu	37	chr17	30632431	30632431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggggtgtatgctctcGtctctgcccatctggccaac	5	11	12	13	1	3	0	0	0	3	0	5	1	3	1	2	4	3	2	2	4	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr17:30632431G>A	uc010csx.1	+						RHBDL3_uc002hhe.1_Missense_Mutation_p.V285I|RHBDL3_uc010csw.1_Missense_Mutation_p.V277I|RHBDL3_uc010csy.1_Missense_Mutation_p.V187I|RHBDL3_uc002hhf.1_Missense_Mutation_p.V187I			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.						proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				GTATGCTCTCGTCTCTGCCCA	0.542													A	30632431	G	A	30632431	3	1	53	1	0	0	0	0	1	0	0	0	13412	1145	40	1	879	1	RHBDL3	17	30632431	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	22388881	30632431	50562779	57	3297											
POLRMT	5442	broad.mit.edu	37	chr19	622950	622950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcccggcacagtgctttCtcccattggtcccgcagggt	5	9	12	15	3	1	0	0	0	1	0	3	0	2	0	3	3	2	3	3	3	0	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:622950C>A	uc002lpf.1	-	6	1382	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	442					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|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)		ACAGTGCTTTCTCCCATTGGT	0.672													A	622950	C	A	622950	3	1	53	1	0	0	0	0	1	0	0	0	12315	912	32	4	2426	4	POLRMT	19	622950	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08		622950	58506033	58	3298											
PODNL1	79883	broad.mit.edu	37	chr19	14046600	14046600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggttggcagccagatccGcgacacggagggaccggggc	7	5	17	12	4	0	1	0	0	0	1	1	4	1	3	3	6	1	2	3	6	0	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14046600G>A	uc002mxr.3	-	4	723	c.449C>T	c.(448-450)gCg>gTg	p.A150V	PODNL1_uc010xni.2_Missense_Mutation_p.A68V|PODNL1_uc010xnj.2_Missense_Mutation_p.A148V|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	150	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			AGCCAGATCCGCGACACGGAG	0.667													A	14046600	G	A	14046600	3	1	53	1	0	0	0	0	1	0	0	0	12256	1087	38	1	1105	1	PODNL1	19	14046600	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	13423650	14046600	45082383	59	3299											
EMR2	30817	broad.mit.edu	37	chr19	14857101	14857101	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagagtctgtttttcaaaAtccagagagtcaccagaaag	15	9	10	7	0	3	3	2	0	1	3	4	5	4	3	2	1	0	1	2	1	3	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:14857101A>C	uc002mzp.1	-	17	2582	c.2126T>G	c.(2125-2127)aTt>aGt	p.I709S	EMR2_uc010dzs.1_Missense_Mutation_p.I168S|EMR2_uc010xnw.1_Missense_Mutation_p.I651S|EMR2_uc002mzo.1_Missense_Mutation_p.I698S|EMR2_uc002mzq.1_Missense_Mutation_p.I649S|EMR2_uc002mzr.1_Missense_Mutation_p.I660S|EMR2_uc002mzs.1_Missense_Mutation_p.I567S|EMR2_uc002mzt.1_Missense_Mutation_p.I605S|EMR2_uc002mzu.1_Missense_Mutation_p.I616S|EMR2_uc010xnx.1_Non-coding_Transcript	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	709					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GTTTTTCAAAATCCAGAGAGT	0.388													C	14857101	A	C	14857101	3	2	53	1	0	0	0	0	1	0	0	0	5146	101	4	5	361	5	EMR2	19	14857101	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08	810501	14857101	44271882	60	3300											
CPAMD8	27151	broad.mit.edu	37	chr19	17086872	17086872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactcttatcaactgcggcGacgcacacacagctgcccct	10	7	7	17	3	2	0	1	0	1	0	2	1	2	0	2	1	4	2	2	1	2	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:17086872G>A	uc002nfb.3	-	15	2021	c.1989C>T	c.(1987-1989)gtC>gtT	p.V663V		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	616						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CAACTGCGGCGACGCACACAC	0.597													A	17086872	G	A	17086872	2	1	53	1	0	0	0	0	0	0	0	1	3826	1045	37	1		1	CPAMD8	19	17086872	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	2229771	17086872	42042111	61	3301											
ZFP30	22835	broad.mit.edu	37	chr19	38126468	38126468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacactccttacattcatagGgtttttctccagtatgaagt	10	15	6	10	0	2	1	1	1	1	0	4	1	3	1	2	1	1	2	2	1	4	6			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:38126468G>A	uc002ogv.1	-	5	1490	c.974C>T	c.(973-975)cCc>cTc	p.P325L	ZFP30_uc002ogw.1_Missense_Mutation_p.P325L|ZFP30_uc002ogx.1_Missense_Mutation_p.P325L|ZFP30_uc010xtt.1_Missense_Mutation_p.P324L	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACATTCATAGGGTTTTTCTCC	0.438													A	38126468	G	A	38126468	3	1	53	1	0	0	0	0	1	0	0	0	17745	1232	43	2	589	2	ZFP30	19	38126468	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	21039596	38126468	21002515	62	3302											
MAP4K1	11184	broad.mit.edu	37	chr19	39086283	39086283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccctgcacagacccaCggcctccaccgcttcggtca	6	6	8	21	4	1	1	1	0	0	1	4	1	3	1	6	2	1	2	6	2	0	1			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:39086283C>T	uc002oix.1	-	27	2374	c.2266G>A	c.(2266-2268)Gtg>Atg	p.V756M	MAP4K1_uc002oiy.1_Missense_Mutation_p.V756M	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	756	CNH.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CACAGACCCACGGCCTCCACC	0.622													T	39086283	C	T	39086283	3	4	53	1	0	0	0	0	1	0	0	0	9334	536	19	1	317	1	MAP4K1	19	39086283	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	959815	39086283	20042700	63	3303											
LILRA1	11024	broad.mit.edu	37	chr19	55107682	55107682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcagacccttcatctcGgtgcatccgggccccacggt	5	8	12	16	4	2	1	1	0	1	1	4	1	3	1	4	4	1	2	4	4	0	1	rs138767008		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:55107682G>A	uc002qgh.1	+	6	1169	c.987G>A	c.(985-987)tcG>tcA	p.S329S	LILRA1_uc010yfg.1_Silent_p.S327S|LILRA1_uc010yfh.2_Silent_p.S329S	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	329	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTTCATCTCGGTGCATCCGG	0.612													A	55107682	G	A	55107682	2	1	53	1	0	0	0	0	0	0	0	1	8844	1103	39	1		1	LILRA1	19	55107682	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	16021399	55107682	4021301	64	3304											
NLRP8	126205	broad.mit.edu	37	chr19	56466478	56466478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaaatgtccctctctcGtaacccttccggggtttaat	7	14	8	12	2	1	1	0	1	1	0	5	1	3	1	3	2	2	3	3	2	3	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr19:56466478G>A	uc002qmh.3	+	2	1125	c.1054G>A	c.(1054-1056)Gta>Ata	p.V352I	NLRP8_uc010etg.3_Missense_Mutation_p.V352I	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	352	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TCCCTCTCTCGTAACCCTTCC	0.458													A	56466478	G	A	56466478	3	1	53	1	0	0	0	0	1	0	0	0	10559	1145	40	1	1064	1	NLRP8	19	56466478	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	1358796	56466478	2662505	65	3305											
CASS4	57091	broad.mit.edu	37	chr20	55027872	55027872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattggcctctggaagttcTtgtgactgacagtgtccaga	9	12	11	9	0	2	3	0	2	2	1	3	4	3	4	2	2	0	1	2	2	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr20:55027872T>C	uc002xxp.2	+	5	1865	c.1640T>C	c.(1639-1641)cTt>cCt	p.L547P	CASS4_uc002xxq.4_Missense_Mutation_p.L547P|CASS4_uc010zze.1_Missense_Mutation_p.L493P|CASS4_uc002xxr.2_Missense_Mutation_p.L547P|CASS4_uc010gio.2_Intron	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	547					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						CTGGAAGTTCTTGTGACTGAC	0.493													C	55027872	T	C	55027872	3	2	53	1	0	0	0	0	1	0	0	0	2709	1609	56	3	1658	3	CASS4	20	55027872	Missense_Mutation	SNP	T	TCGA-06-0645-01A-01D-1492-08		55027872	7997648	66	3306											
TMPRSS15	5651	broad.mit.edu	37	chr21	19744570	19744570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttctccatcacaaaataAatcagcttttatacacgtta	15	14	2	10	1	3	0	2	0	1	0	4	0	3	0	1	0	3	2	1	0	8	7			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:19744570A>T	uc002ykw.3	-	5	635	c.604T>A	c.(604-606)Tta>Ata	p.L202I		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	202	LDL-receptor class A 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCACAAAATAAATCAGCTTTT	0.383													T	19744570	A	T	19744570	3	4	53	1	0	0	0	0	1	0	0	0	16346	11	1	5	2535	5	TMPRSS15	21	19744570	Missense_Mutation	SNP	A	TCGA-06-0645-01A-01D-1492-08		19744570	28385325	67	3307											
ICOSLG	23308	broad.mit.edu	37	chr21	45655287	45655287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcatgttcaagaagaCggtgtcattctgcagagcct	9	9	11	12	2	3	3	2	0	1	3	3	3	3	3	3	1	2	3	3	1	2	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chr21:45655287C>T	uc010gpp.1	-	3	699	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	ICOSLG_uc002zef.3_Missense_Mutation_p.V72I|ICOSLG_uc002zee.3_Missense_Mutation_p.V189I|ICOSLG_uc011afc.2_Missense_Mutation_p.V99I	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	189	Ig-like C2-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TTCAAGAAGACGGTGTCATTC	0.552													T	45655287	C	T	45655287	3	4	53	1	0	0	0	0	1	0	0	0	7545	536	19	1	359	1	ICOSLG	21	45655287	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	25910717	45655287	2474608	68	3308											
MAGEB6	158809	broad.mit.edu	37	chrX	26212572	26212572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaggcgtgcacgttggcGcaattcctgcagaagaagtt	12	8	13	8	3	0	3	0	0	0	3	1	3	1	3	1	2	2	5	1	2	5	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:26212572G>A	uc022buc.1	+	0	609	c.609G>A	c.(607-609)gcG>gcA	p.A203A	MAGEB6_uc004dbr.3_Silent_p.A203A	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	203	MAGE.							p.A203A(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GCACGTTGGCGCAATTCCTGC	0.478													A	26212572	G	A	26212572	2	1	53	1	0	0	0	0	0	0	0	1	9254	1074	38	1		1	MAGEB6	23	26212572	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08		26212572	129057988	69	3309											
FAM70A	55026	broad.mit.edu	37	chrX	119410833	119410833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaccagagcaggtggtaGaggtggatgatatcttggca	11	8	16	6	0	1	4	0	1	1	3	1	5	1	5	1	5	1	4	1	5	2	3			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:119410833G>A	uc004eso.4	-	7	881	c.654C>T	c.(652-654)ctC>ctT	p.L218L	FAM70A_uc004esp.4_Silent_p.L194L|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	218						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						GCAGGTGGTAGAGGTGGATGA	0.542													A	119410833	G	A	119410833	2	1	53	1	0	0	0	0	0	0	0	1	5655	929	33	2		2	FAM70A	23	119410833	Silent	SNP	G	TCGA-06-0645-01A-01D-1492-08	93198261	119410833	35859727	70	3310											
SAGE1	55511	broad.mit.edu	37	chrX	134986679	134986679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaagagaggataaataaCggccaaccagtagctgataa	17	7	11	6	1	0	3	0	2	0	1	0	5	0	4	2	2	3	2	2	2	7	4			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:134986679C>T	uc004ezh.3	+	3	431	c.264C>T	c.(262-264)aaC>aaT	p.N88N	SAGE1_uc010nry.1_Intron|SAGE1_uc011mvv.2_Silent_p.N88N	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	88										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GGATAAATAACGGCCAACCAG	0.443													T	134986679	C	T	134986679	2	4	53	1	0	0	0	0	0	0	0	1	13900	535	19	1		1	SAGE1	23	134986679	Silent	SNP	C	TCGA-06-0645-01A-01D-1492-08	15575846	134986679	20283881	71	3311											
GPR112	139378	broad.mit.edu	37	chrX	135430793	135430793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccaggatcacacctaCgacctttctctctccaacag	10	10	4	17	1	3	0	1	0	2	0	6	2	4	1	5	1	2	0	5	1	2	3	rs146283448		TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:135430793C>T	uc004ezu.1	+	5	5219	c.4928C>T	c.(4927-4929)aCg>aTg	p.T1643M	GPR112_uc010nsb.1_Missense_Mutation_p.T1438M|GPR112_uc010nsc.1_Missense_Mutation_p.T1410M	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1643					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P1642H(1)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCACACCTACGACCTTTCTC	0.468													T	135430793	C	T	135430793	3	4	53	1	0	0	0	0	1	0	0	0	6683	536	19	1	4938	1	GPR112	23	135430793	Missense_Mutation	SNP	C	TCGA-06-0645-01A-01D-1492-08	444114	135430793	19839767	72	3312											
DNASE1L1	1774	broad.mit.edu	37	chrX	153633852	153633852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcattgaaggcgcagatgcGaaaggcctgggccccattgg	9	6	16	10	2	0	2	0	1	0	1	0	3	0	2	3	5	1	2	3	5	2	2			TCGA-06-0645-01A-01D-1492-08	TCGA-06-0645-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3f458a3c-baac-427d-b3d6-6f15104a8886	c917b2bc-abdd-480f-b6fe-b442abfd1b43	g.chrX:153633852G>A	uc004fks.1	-	1	249	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C	DNASE1L1_uc004fkt.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fku.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkv.1_Missense_Mutation_p.R20C|DNASE1L1_uc004fkw.1_Missense_Mutation_p.R20C	NM_006730	NP_006721	P49184	DNSL1_HUMAN	Homo sapiens deoxyribonuclease I-like 1 (DNASE1L1), transcript variant 1, mRNA.	20					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCGCAGATGCGAAAGGCCTGG	0.607													A	153633852	G	A	153633852	3	1	53	1	0	0	0	0	1	0	0	0	4700	1058	37	1	878	1	DNASE1L1	23	153633852	Missense_Mutation	SNP	G	TCGA-06-0645-01A-01D-1492-08	18203059	153633852	1636708	73	3313											
LCK	3932	broad.mit.edu	37	chr1	32740011	32740011	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaactgccattatcccatAgtcccactggatggcaaggg	11	8	11	11	0	0	1	0	0	0	1	2	3	2	2	3	3	2	1	3	3	4	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:32740011A>T	uc001bux.3	+	1	219	c.81A>T	c.(79-81)atA>atT	p.I27I	LCK_uc001buy.3_Silent_p.I27I|LCK_uc001buz.3_Silent_p.I27I|LCK_uc010ohc.1_Silent_p.I71I|LCK_uc001bva.3_Silent_p.I27I	NM_005356	NP_005347	P06239	LCK_HUMAN	Homo sapiens lymphocyte-specific protein tyrosine kinase (LCK), transcript variant 2, mRNA.	27	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	ATTATCCCATAGTCCCACTGG	0.547			T	TRB@	T-ALL								T	32740011	A	T	32740011	2	4	54	1	0	0	0	0	0	0	0	1	8735	410	15	5		5	LCK	1	32740011	Silent	SNP	A	TCGA-06-0646-01A-01D-1492-08		32740011	216510610	1	3314											
AKR1A1	10327	broad.mit.edu	37	chr1	46027470	46027470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgtttcagggggcaatgGcggcttcctgtgttctactg	4	14	14	9	1	2	0	1	0	1	0	3	0	3	0	1	4	1	4	1	4	2	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46027470G>A	uc021omx.1	+	3	422	c.4G>A	c.(4-6)Gcg>Acg	p.A2T	AKR1A1_uc009vxw.3_Missense_Mutation_p.A2T|AKR1A1_uc021omy.1_Missense_Mutation_p.A2T|AKR1A1_uc001cod.3_Missense_Mutation_p.A2T|AKR1A1_uc001coe.3_Missense_Mutation_p.A2T	NM_001202414	NP_001189343	P14550	AK1A1_HUMAN	Homo sapiens aldo-keto reductase family 1, member A1 (aldehyde reductase) (AKR1A1), transcript variant 3, mRNA.	2					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GGGGGCAATGGCGGCTTCCTG	0.522													A	46027470	G	A	46027470	3	1	54	1	0	0	0	0	1	0	0	0	465	1203	42	2	6	2	AKR1A1	1	46027470	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	13287459	46027470	203223151	2	3315											
CCDC17	149483	broad.mit.edu	37	chr1	46086575	46086575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcgcaccacactcacCtgaggaatcccattcagctg	9	8	7	17	1	2	1	2	1	0	0	4	2	4	2	4	1	2	2	4	1	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:46086575C>T	uc010olt.2	-	11	1749	c.1599_splice	c.e11+1	p.Q533_splice	CCDC17_uc010ols.2_Splice_Site_p.Q524_splice|CCDC17_uc001com.4_Splice_Site_p.Q354_splice|CCDC17_uc001con.4_Splice_Site|CCDC17_uc009vxz.3_Intron	NM_001114938	NP_001108410	Q96LX7	CCD17_HUMAN	Homo sapiens coiled-coil domain containing 17 (CCDC17), transcript variant 1, mRNA.	533										kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					CCACACTCACCTGAGGAATCC	0.592													T	46086575	C	T	46086575	2	4	54	1	0	0	0	0	0	0	0	1	2820	695	24	2		2	CCDC17	1	46086575	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08	59105	46086575	203164046	3	3316											
CDKN2C	1031	broad.mit.edu	37	chr1	51436083	51436083	+	Frame_Shift_Del	DEL	A	A	-																															agttggcgtccgcagctgccAggggggacctagagcaactt																								rs66765738		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:51436083delA	uc001csf.3	+	1	2018	c.43delA	c.(43-45)aggfs	p.R15fs	CDKN2C_uc001csg.3_Frame_Shift_Del_p.R15fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	15					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.R15fs*4(2)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGCAGCTGCCAGGGGGGACCT	0.468			D		"glioma, MM"								-	51436083	A	-	51436083	7	5	54	1	0	1	0	1	0	0	0	0	3195	179	7	0	45	0	CDKN2C	1	51436083	Frame_Shift_Del	DEL	A	TCGA-06-0646-01A-01D-1492-08	5349508	51436083	197814538	4	3317											
FCRL4	83417	broad.mit.edu	37	chr1	157556156	157556156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtatcccctgtgccttcagCcacggagcagacaaggacca	10	6	11	14	1	1	1	1	0	0	1	2	3	2	3	5	3	3	2	5	3	2	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157556156C>T	uc001fqw.3	-	5	1073	c.937G>A	c.(937-939)Gct>Act	p.A313T	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	313	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity	p.V312M(2)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GTGCCTTCAGCCACGGAGCAG	0.597													T	157556156	C	T	157556156	3	4	54	1	0	0	0	0	1	0	0	0	5846	739	26	2	638	2	FCRL4	1	157556156	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	106120073	157556156	91694465	5	3318											
FCRL2	79368	broad.mit.edu	37	chr1	157718679	157718679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcaccattgacatacactGgctgcagctcctccatgtct	9	11	6	15	0	2	1	1	1	1	0	4	1	4	1	3	1	3	3	3	1	1	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:157718679G>T	uc001fre.2	-	8	1438	c.1379C>A	c.(1378-1380)cCa>cAa	p.P460Q	FCRL2_uc001frd.2_Missense_Mutation_p.P207Q|FCRL2_uc010phz.1_Intron|FCRL2_uc009wsp.2_Missense_Mutation_p.P176Q	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	460					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GACATACACTGGCTGCAGCTC	0.502													T	157718679	G	T	157718679	3	4	54	1	0	0	0	0	1	0	0	0	5844	1348	47	4	163	4	FCRL2	1	157718679	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	162523	157718679	91531942	6	3319											
CEP350	9857	broad.mit.edu	37	chr1	179965731	179965731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttcagttccagccatctgGaatcaaagcacgtatactgt	12	12	7	10	1	3	0	2	0	1	0	4	1	4	1	2	1	3	3	2	1	4	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:179965731G>A	uc001gnt.3	+	5	822	c.439G>A	c.(439-441)Gaa>Aaa	p.E147K	CEP350_uc001gnr.1_Missense_Mutation_p.E121K|CEP350_uc009wxl.2_Missense_Mutation_p.E146K|CEP350_uc001gnu.3_5'UTR	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	147						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						CAGCCATCTGGAATCAAAGCA	0.378													A	179965731	G	A	179965731	3	1	54	1	0	0	0	0	1	0	0	0	3284	1175	41	2	457	2	CEP350	1	179965731	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	22247052	179965731	69284890	7	3320											
RYR2	6262	broad.mit.edu	37	chr1	237802446	237802446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagccatcaaaatcGccgaggatccttcccgagat	13	7	10	11	3	1	2	1	0	0	2	4	6	3	4	4	2	1	0	4	2	4	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr1:237802446G>A	uc001hyl.1	+	45	7180	c.7060G>A	c.(7060-7062)Gcc>Acc	p.A2354T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2354	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CATCAAAATCGCCGAGGATCC	0.493													A	237802446	G	A	237802446	3	1	54	1	0	0	0	0	1	0	0	0	13860	1087	38	1	7242	1	RYR2	1	237802446	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	57836715	237802446	11448175	8	3321											
CCDC150	284992	broad.mit.edu	37	chr2	197540931	197540931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgctggatgcagcccatgCcagtatcacaaatgaactac	13	9	8	11	0	1	1	1	1	0	0	1	2	1	2	2	1	6	3	2	1	4	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr2:197540931C>T	uc002utp.1	+	10	1337	c.1202C>T	c.(1201-1203)gCc>gTc	p.A401V	CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Non-coding_Transcript|CCDC150_uc010zgs.1_Missense_Mutation_p.A69V	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	401										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GCAGCCCATGCCAGTATCACA	0.388													T	197540931	C	T	197540931	3	4	54	1	0	0	0	0	1	0	0	0	2811	739	26	2	1244	2	CCDC150	2	197540931	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		197540931	45658442	9	3322											
APPL1	26060	broad.mit.edu	37	chr3	57302493	57302493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcaacagaaagaactcaAtaaacaaaaacagattgaaa	25	4	6	6	0	1	4	1	1	0	3	1	5	1	4	0	0	5	1	0	0	10	2	rs144769112		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:57302493A>G	uc003dio.3	+	20	2108	c.1961A>G	c.(1960-1962)aAt>aGt	p.N654S	APPL1_uc011bey.1_Missense_Mutation_p.N637S|ASB14_uc003dip.1_3'UTR|ASB14_uc003diq.3_3'UTR	NM_012096	NP_036228	Q9UKG1	DP13A_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1 (APPL1), mRNA.	654	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		aaagaactcaataaacaaaaa	0.308													G	57302493	A	G	57302493	3	3	54	1	0	0	0	0	1	0	0	0	820	101	4	3	2043	3	APPL1	3	57302493	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		57302493	140719937	10	3323											
MAGI1	9223	broad.mit.edu	37	chr3	65342645	65342645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatactctctgctgcctttcGgatcccttgcgtgtgcccgc	3	14	9	15	3	1	0	0	0	1	0	4	1	2	1	3	1	5	1	3	1	2	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:65342645G>A	uc003dmn.3	-	22	4323	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L	MAGI1_uc003dmm.3_3'UTR	NM_001033057	NP_001028229	Q96QZ7	MAGI1_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 1 (MAGI1), transcript variant 3, mRNA.	1295					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		GCTGCCTTTCGGATCCCTTGC	0.592													A	65342645	G	A	65342645	3	1	54	1	0	0	0	0	1	0	0	0	9265	1116	39	1	595	1	MAGI1	3	65342645	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	8040152	65342645	132679785	11	3324											
TMPRSS7	344805	broad.mit.edu	37	chr3	111794198	111794198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttcctccgcccttcaccGcatcatcggaggcacagaca	9	7	9	16	3	2	1	2	0	0	1	5	3	4	2	4	2	0	3	4	2	0	2	rs142998665	by1000genomes	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:111794198G>A	uc010hqb.2	+	12	1606	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	TMPRSS7_uc011bhr.1_Missense_Mutation_p.R334H	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	605	CUB 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCCCTTCACCGCATCATCGGA	0.537													A	111794198	G	A	111794198	3	1	54	1	0	0	0	0	1	0	0	0	16352	1087	38	1	1482	1	TMPRSS7	3	111794198	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	46451553	111794198	86228232	12	3325											
ABCF3	55324	broad.mit.edu	37	chr3	183906608	183906608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaactggaggagattgAggctgacaaggcacctgcca	12	6	13	10	0	0	3	0	2	0	1	0	5	0	4	3	4	3	2	3	4	2	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr3:183906608A>G	uc003fmz.2	+	7	1029	c.896A>G	c.(895-897)gAg>gGg	p.E299G	ABCF3_uc003fna.2_Missense_Mutation_p.E293G|ABCF3_uc003fnb.2_5'UTR	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	299	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GAGGAGATTGAGGCTGACAAG	0.532													G	183906608	A	G	183906608	3	3	54	1	0	0	0	0	1	0	0	0	67	304	11	3	926	3	ABCF3	3	183906608	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08	72112410	183906608	14115822	13	3326											
SORCS2	57537	broad.mit.edu	37	chr4	7719828	7719828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccctcacgccgccccGgggcctgcaggtcagcattc	4	6	12	19	3	2	0	2	0	0	0	3	0	2	0	6	3	3	2	6	3	0	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:7719828G>A	uc003gkb.4	+	17	2342	c.2342G>A	c.(2341-2343)cGg>cAg	p.R781Q	SORCS2_uc011bwi.2_Missense_Mutation_p.R609Q	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	781						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ACGCCGCCCCGGGGCCTGCAG	0.652													A	7719828	G	A	7719828	3	1	54	1	0	0	0	0	1	0	0	0	15025	1116	39	1	2412	1	SORCS2	4	7719828	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		7719828	183434448	14	3327											
CLOCK	9575	broad.mit.edu	37	chr4	56348941	56348941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattttactacagcttacGgtaaacaacataacatacta	16	12	3	10	1	1	0	1	0	0	0	1	0	1	0	0	1	8	2	0	1	9	8	rs149959118		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:56348941G>A	uc003haz.1	-	4	938	c.12C>T	c.(10-12)acC>acT	p.T4T	CLOCK_uc003hba.1_Silent_p.T4T	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	4					circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			TACAGCTTACGGTAAACAACA	0.274													A	56348941	G	A	56348941	2	1	54	1	0	0	0	0	0	0	0	1	3580	1103	39	1		1	CLOCK	4	56348941	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	48629113	56348941	134805335	15	3328											
USP38	84640	broad.mit.edu	37	chr4	144141519	144141519	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatttcggcccaatggAtttgatgacaacgacccacc	10	11	8	12	2	1	2	1	2	0	0	2	4	1	3	3	2	1	1	3	2	2	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr4:144141519A>T	uc003ijb.3	+	9	3573	c.3039A>T	c.(3037-3039)ggA>ggT	p.G1013G	USP38_uc003ijc.3_Non-coding_Transcript	NM_032557	NP_115946	Q8NB14	UBP38_HUMAN	Homo sapiens ubiquitin specific peptidase 38 (USP38), mRNA.	1013					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	33	all_hematologic(180;0.158)					GGCCCAATGGATTTGATGACA	0.458													T	144141519	A	T	144141519	2	4	54	1	0	0	0	0	0	0	0	1	17171	320	12	5		5	USP38	4	144141519	Silent	SNP	A	TCGA-06-0646-01A-01D-1492-08	87792578	144141519	47012757	16	3329											
PCDHB6	56130	broad.mit.edu	37	chr5	140532029	140532029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggtgcccgagggtccctttCcagggcatctggtggatgtg	4	10	16	11	2	1	0	0	0	1	0	3	2	3	1	3	5	1	1	3	5	0	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr5:140532029C>G	uc003lir.3	+	0	2191	c.2191C>G	c.(2191-2193)Cca>Gca	p.P731A		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	731					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGTCCCTTTCCAGGGCATCT	0.612													G	140532029	C	G	140532029	3	3	54	1	0	0	0	0	1	0	0	0	11622	855	30	4	2193	4	PCDHB6	5	140532029	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		140532029	40383231	17	3330											
FILIP1	27145	broad.mit.edu	37	chr6	76063397	76063397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctctagcatgcgccGgtaggtttctttctgttttt	4	17	10	10	2	3	0	0	0	3	0	3	0	3	0	1	2	4	6	1	2	2	6			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:76063397G>A	uc010kbe.3	-	4	1026	c.496C>T	c.(496-498)Cgg>Tgg	p.R166W	FILIP1_uc003phy.1_Missense_Mutation_p.R163W|FILIP1_uc003phz.3_Missense_Mutation_p.R64W|FILIP1_uc003pia.3_Missense_Mutation_p.R163W	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	163										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGCATGCGCCGGTAGGTTTCT	0.428													A	76063397	G	A	76063397	3	1	54	1	0	0	0	0	1	0	0	0	5943	1115	39	1	3166	1	FILIP1	6	76063397	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		76063397	95051670	18	3331											
SGK1	6446	broad.mit.edu	37	chr6	134493370	134493370	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggatgttgtgctgttgtgTtcaatgttctccttgcagag	5	17	13	6	0	2	1	1	0	1	1	3	2	2	2	1	1	2	6	1	1	1	5			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:134493370T>C	uc003qen.4	-	7	836	c.747A>G	c.(745-747)gaA>gaG	p.E249E	SGK1_uc003qeo.4_Silent_p.E344E|SGK1_uc011ect.2_Silent_p.E239E|SGK1_uc011ecu.2_Silent_p.E205E|SGK1_uc011ecv.2_Silent_p.E263E|SGK1_uc011ecw.2_Silent_p.E277E	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	249	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCTGTTGTGTTCAATGTTCT	0.468													C	134493370	T	C	134493370	2	2	54	1	0	0	0	0	0	0	0	1	14300	1722	60	3		3	SGK1	6	134493370	Silent	SNP	T	TCGA-06-0646-01A-01D-1492-08	58429973	134493370	36621697	19	3332											
LRP11	84918	broad.mit.edu	37	chr6	150174287	150174287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccttgctaagtggaggcGcatccttttctgagaaagaa	11	10	11	9	1	1	2	0	1	1	2	2	4	2	3	2	2	2	2	2	2	3	4	rs150922217	byFrequency	TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr6:150174287G>A	uc003qng.2	-	1	947	c.623C>T	c.(622-624)gCg>gTg	p.A208V	LRP11_uc003qnh.1_Missense_Mutation_p.A208V	NM_032832	NP_116221	Q86VZ4	LRP11_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 11 (LRP11), mRNA.	208						integral to membrane	receptor activity			cervix(1)|kidney(5)|large_intestine(1)|lung(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;4.56e-12)|GBM - Glioblastoma multiforme(68;0.225)		AAGTGGAGGCGCATCCTTTTC	0.438													A	150174287	G	A	150174287	3	1	54	1	0	0	0	0	1	0	0	0	9023	1087	38	1	903	1	LRP11	6	150174287	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	15680917	150174287	20940780	20	3333											
SEMA3C	10512	broad.mit.edu	37	chr7	80433493	80433493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagtcagtttttctttgaAgaagaagtacaccttagcat	12	14	8	7	0	3	3	2	1	1	2	3	3	3	3	1	0	2	3	1	0	5	5			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:80433493A>G	uc011kgw.2	-	7	863	c.784T>C	c.(784-786)Ttc>Ctc	p.F262L	SEMA3C_uc003uhj.3_Missense_Mutation_p.F244L|SEMA3C_uc011kgx.1_Missense_Mutation_p.F96L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	244	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTTTCTTTGAAGAAGAAGTAC	0.368													G	80433493	A	G	80433493	3	3	54	1	0	0	0	0	1	0	0	0	14119	72	3	3	1569	3	SEMA3C	7	80433493	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		80433493	78705170	21	3334											
COL1A2	1278	broad.mit.edu	37	chr7	94037543	94037543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgtgttggtgcccctggcCcagctgtaagtgcttccatt	5	12	12	12	1	0	0	0	0	0	0	1	1	1	0	4	2	3	4	4	2	1	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:94037543C>T	uc003ung.1	+	13	1159	c.688C>T	c.(688-690)Cca>Tca	p.P230S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	230					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P230S(2)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGCCCCTGGCCCAGCTGTAAG	0.398										HNSCC(75;0.22)			T	94037543	C	T	94037543	3	4	54	1	0	0	0	0	1	0	0	0	3709	623	22	2	742	2	COL1A2	7	94037543	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	13604050	94037543	65101120	22	3335											
TRRAP	8295	broad.mit.edu	37	chr7	98552870	98552870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaagatcattgtggaggaGgggcacaccgtcccgcagct	9	6	15	11	3	1	1	1	0	0	1	2	4	2	4	2	5	1	3	2	5	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:98552870G>A	uc003upp.3	+	39	6068	c.5859G>A	c.(5857-5859)gaG>gaA	p.E1953E	TRRAP_uc011kis.2_Silent_p.E1935E|TRRAP_uc003upr.3_Silent_p.E1652E	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1953					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.E1935E(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTGTGGAGGAGGGGCACACCG	0.642													A	98552870	G	A	98552870	2	1	54	1	0	0	0	0	0	0	0	1	16702	991	35	2		2	TRRAP	7	98552870	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	4515327	98552870	60585793	23	3336											
RELN	5649	broad.mit.edu	37	chr7	103191709	103191709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagtctcactggatccGcggatgagctatcagtcgaa	10	10	10	11	3	2	1	2	1	1	0	6	4	4	3	2	2	1	1	2	2	2	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:103191709G>A	uc022ajr.1	-	40	6267	c.6107C>T	c.(6106-6108)gCg>gTg	p.A2036V	RELN_uc022ajq.1_Missense_Mutation_p.A2036V|RELN_uc010liz.3_Missense_Mutation_p.A2036V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2036					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CACTGGATCCGCGGATGAGCT	0.502													A	103191709	G	A	103191709	3	1	54	1	0	0	0	0	1	0	0	0	13308	1087	38	1	4375	1	RELN	7	103191709	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	4638839	103191709	55946954	24	3337											
KEL	3792	broad.mit.edu	37	chr7	142639989	142639989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatggctagccccccaacGtctgcagcattctctaagaa	10	8	9	14	2	2	1	0	0	2	1	3	2	2	1	3	1	4	3	3	1	4	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr7:142639989G>A	uc003wcb.3	-	16	2124	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	638					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCCCCCAACGTCTGCAGCAT	0.502													A	142639989	G	A	142639989	2	1	54	1	0	0	0	0	0	0	0	1	8200	1136	40	1		1	KEL	7	142639989	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	39448280	142639989	16498674	25	3338											
COL22A1	169044	broad.mit.edu	37	chr8	139606337	139606337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccccatggggccggccCggcctggaagcccatctttt	4	8	12	17	2	1	0	0	0	1	0	2	1	2	1	6	5	1	1	6	5	1	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr8:139606337C>T	uc003yvd.3	-	62	4985	c.4538G>A	c.(4537-4539)cGg>cAg	p.R1513Q	COL22A1_uc011ljo.2_Missense_Mutation_p.R793Q	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1513	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R1513Q(2)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGGGCCGGCCCGGCCTGGAAG	0.662										HNSCC(7;0.00092)			T	139606337	C	T	139606337	3	4	54	1	0	0	0	0	1	0	0	0	3712	652	23	1	354	1	COL22A1	8	139606337	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		139606337	6757685	26	3339											
C5	727	broad.mit.edu	37	chr9	123745005	123745005	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattgataattctcaactagCcacaataaagaattacaaat	20	11	3	7	0	1	2	1	1	1	1	2	2	1	2	1	0	3	0	1	0	10	6			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr9:123745005C>T	uc004bkv.3	-	25	3348	c.3318G>A	c.(3316-3318)tgG>tgA	p.W1106*		NM_001735	NP_001726	P01031	CO5_HUMAN	Homo sapiens complement component 5 (C5), mRNA.	1106					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCTCAACTAGCCACAATAAAG	0.299													T	123745005	C	T	123745005	4	4	54	1	0	0	0	0	0	1	0	0	2302	740	26	2	1776	2	C5	9	123745005	Nonsense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		123745005	17468426	27	3340											
PAOX	196743	broad.mit.edu	37	chr10	135203245	135203245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgcagacggcgccggCgcccaggtatgtggcgtgcc	4	6	15	16	5	0	1	0	0	0	1	1	1	1	1	4	4	2	2	4	4	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr10:135203245C>T	uc001lmv.3	+	5	1466	c.1386C>T	c.(1384-1386)ggC>ggT	p.G462G	PAOX_uc001lmx.3_Intron|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Non-coding_Transcript|PAOX_uc001lnc.3_Non-coding_Transcript|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	600					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity	p.G462V(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		ACGGCGCCGGCGCCCAGGTAT	0.741													T	135203245	C	T	135203245	2	4	54	1	0	0	0	0	0	0	0	1	11499	755	27	1		1	PAOX	10	135203245	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		135203245	331502	28	3341											
POU2AF1	5450	broad.mit.edu	37	chr11	111225126	111225126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggactggctctgggatagAgatggggagctggacaaact	12	7	16	6	0	1	1	0	0	1	1	1	6	1	5	0	6	2	2	0	6	3	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:111225126A>G	uc001plg.4	-	4	886	c.631T>C	c.(631-633)Tct>Cct	p.S211P		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	211					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TCTGGGATAGAGATGGGGAGC	0.622			T	BCL6	NHL								G	111225126	A	G	111225126	3	3	54	1	0	0	0	0	1	0	0	0	12347	304	11	3	143	3	POU2AF1	11	111225126	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08		111225126	23781390	29	3342											
HYOU1	10525	broad.mit.edu	37	chr11	118919049	118919049	+	Frame_Shift_Del	DEL	A	A	-																															ctcacgctgctcctctgtggAcacttcctggtactcgggct																										TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:118919049delA	uc001puu.2	-	19	2480	c.2287delT	c.(2287-2289)tccfs	p.S763fs	HYOU1_uc001put.2_Frame_Shift_Del_p.S728fs|HYOU1_uc010ryu.1_Frame_Shift_Del_p.S721fs|HYOU1_uc010ryv.1_Frame_Shift_Del_p.S652fs|HYOU1_uc001pux.3_Frame_Shift_Del_p.S763fs|HYOU1_uc010ryw.2_Non-coding_Transcript	NM_006389	NP_006380	Q9Y4L1	HYOU1_HUMAN	Homo sapiens hypoxia up-regulated 1 (HYOU1), transcript variant 1, mRNA.	763						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		TCCTCTGTGGACACTTCCTGG	0.617													-	118919049	A	-	118919049	7	5	54	1	0	1	0	1	0	0	0	0	7528	275	10	0	740	0	HYOU1	11	118919049	Frame_Shift_Del	DEL	A	TCGA-06-0646-01A-01D-1492-08	7693923	118919049	16087467	30	3343											
CHEK1	1111	broad.mit.edu	37	chr11	125505406	125505406	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatacctcaacccttggaaAaaaatcgattctgctcctct	13	11	4	13	1	3	0	1	0	2	0	5	2	4	1	3	1	3	1	3	1	5	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr11:125505406A>T	uc009zbo.3	+	6	1593	c.696A>T	c.(694-696)aaA>aaT	p.K232N	CHEK1_uc010sbi.2_Missense_Mutation_p.K232N|CHEK1_uc010sbh.2_Missense_Mutation_p.K248N|CHEK1_uc001qcf.4_Missense_Mutation_p.K232N|CHEK1_uc009zbp.3_Missense_Mutation_p.K232N|CHEK1_uc001qcg.4_Missense_Mutation_p.K232N	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	232	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		ACCCTTGGAAAAAAATCGATT	0.373								Other conserved DNA damage response genes					T	125505406	A	T	125505406	3	4	54	1	0	0	0	0	1	0	0	0	3364	11	1	5	718	5	CHEK1	11	125505406	Missense_Mutation	SNP	A	TCGA-06-0646-01A-01D-1492-08	6586357	125505406	9501110	31	3344											
ETNK1	55500	broad.mit.edu	37	chr12	22778163	22778163	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccgagagcgggccgggctCagttcagctgctgtccagac	6	7	14	14	3	2	2	2	0	0	2	4	3	4	2	3	2	3	4	3	2	0	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:22778163C>G	uc001rft.3	+	0	88	c.66C>G	c.(64-66)ctC>ctG	p.L22L	ETNK1_uc009ziz.3_Silent_p.L22L|ETNK1_uc001rfs.3_Silent_p.L22L	NM_018638	NP_061108	Q9HBU6	EKI1_HUMAN	Homo sapiens ethanolamine kinase 1 (ETNK1), transcript variant 1, mRNA.	22					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGGCCGGGCTCAGTTCAGCTG	0.726													G	22778163	C	G	22778163	2	3	54	1	0	0	0	0	0	0	0	1	5314	813	29	4		4	ETNK1	12	22778163	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		22778163	111073732	32	3345											
TMTC1	83857	broad.mit.edu	37	chr12	29757135	29757135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtaaaggactctctccGccaccacaaaacccaccctg	12	6	6	17	1	1	0	0	0	1	0	3	1	2	1	5	1	1	2	5	1	4	1	rs144467040		TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr12:29757135G>A	uc021qwi.1	-	6	1285	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	TMTC1_uc001riz.3_Missense_Mutation_p.A58V|TMTC1_uc001rja.3_Missense_Mutation_p.A145V|TMTC1_uc001rjb.3_Missense_Mutation_p.A301V|TMTC1_uc001rjc.1_Missense_Mutation_p.A363V	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	409						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GACTCTCTCCGCCACCACAAA	0.507													A	29757135	G	A	29757135	3	1	54	1	0	0	0	0	1	0	0	0	16360	1087	38	1	1470	1	TMTC1	12	29757135	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	6978972	29757135	104094760	33	3346											
MAPK1IP1L	93487	broad.mit.edu	37	chr14	55529424	55529424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctcctcaaggctggccagGctccaacccttggaataatc	10	8	8	15	0	1	0	1	0	0	0	4	1	3	1	5	4	1	2	5	4	4	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr14:55529424G>T	uc001xbq.1	+	2	271	c.107G>T	c.(106-108)gGc>gTc	p.G36V		NM_144578	NP_653179	Q8NDC0	MISSL_HUMAN	Homo sapiens mitogen-activated protein kinase 1 interacting protein 1-like (MAPK1IP1L), mRNA.	36	Pro-rich.									endometrium(2)|large_intestine(1)|lung(3)	6						GGCTGGCCAGGCTCCAACCCT	0.537													T	55529424	G	T	55529424	3	4	54	1	0	0	0	0	1	0	0	0	9353	1203	42	4	113	4	MAPK1IP1L	14	55529424	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		55529424	51820116	34	3347											
ZNF174	7727	broad.mit.edu	37	chr16	3458844	3458844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagagaagccataccaGtgtggccagtgtgggaaaag	13	6	15	7	0	0	1	0	0	0	1	0	4	0	3	3	3	2	0	3	3	4	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:3458844G>A	uc002cvc.3	+	2	1964	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	383					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						AGCCATACCAGTGTGGCCAGT	0.542													A	3458844	G	A	3458844	2	1	54	1	0	0	0	0	0	0	0	1	17845	1020	36	2		2	ZNF174	16	3458844	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08		3458844	86895909	35	3348											
FUS	2521	broad.mit.edu	37	chr16	31202308	31202308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactacggggatgatcgtcGtggtggcagaggaggctatg	9	9	17	6	3	0	2	0	1	0	1	2	4	0	4	0	6	2	2	0	6	3	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:31202308G>A	uc002ebf.3	+	13	1523	c.1418G>A	c.(1417-1419)cGt>cAt	p.R473H	FUS_uc002ebe.2_Missense_Mutation_p.R469H|FUS_uc002ebg.3_Missense_Mutation_p.R268H|FUS_uc002ebh.3_Missense_Mutation_p.R472H	NM_004960	NP_004951	P35637	FUS_HUMAN	Homo sapiens fused in sarcoma (FUS), transcript variant 1, mRNA.	473	Arg/Gly-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATGATCGTCGTGGTGGCAGA	0.602			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								A	31202308	G	A	31202308	3	1	54	1	0	0	0	0	1	0	0	0	6152	1145	40	1	1472	1	FUS	16	31202308	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	27743464	31202308	59152445	36	3349											
PDPR	55066	broad.mit.edu	37	chr16	70190589	70190589	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgccacgtttgcctgggctTtgtgcacaatttttctgagg	5	14	12	10	2	1	1	0	1	1	0	1	1	1	1	2	2	2	3	2	2	1	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:70190589T>G	uc002eyf.1	+	18	3404	c.2447T>G	c.(2446-2448)tTt>tGt	p.F816C	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Missense_Mutation_p.F716C|PDPR_uc002eyg.1_Missense_Mutation_p.F483C|PDPR_uc002eyh.2_Missense_Mutation_p.F161C|PDPR_uc010vls.1_Missense_Mutation_p.F161C|PDPR_uc021tkj.1_5'Flank	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	816					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		TGCCTGGGCTTTGTGCACAAT	0.552													G	70190589	T	G	70190589	3	3	54	1	0	0	0	0	1	0	0	0	11765	1841	64	5	2513	5	PDPR	16	70190589	Missense_Mutation	SNP	T	TCGA-06-0646-01A-01D-1492-08	38988281	70190589	20164164	37	3350											
MON1B	22879	broad.mit.edu	37	chr16	77229553	77229553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgcctcatttaccacgtgGctgagaaggagacactactg	10	9	11	11	2	1	2	1	1	0	2	1	4	1	2	2	2	3	1	2	2	3	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr16:77229553G>A	uc002fez.3	+	4	1747	c.1417G>A	c.(1417-1419)Gct>Act	p.A473T	MON1B_uc010vnf.2_Missense_Mutation_p.A364T|MON1B_uc010vng.2_Missense_Mutation_p.A327T|MON1B_uc002ffa.3_Missense_Mutation_p.A353T	NM_014940	NP_055755	Q7L1V2	MON1B_HUMAN	Homo sapiens MON1 homolog B (yeast) (MON1B), mRNA.	473							protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	17						TTACCACGTGGCTGAGAAGGA	0.587													A	77229553	G	A	77229553	3	1	54	1	0	0	0	0	1	0	0	0	9775	1203	42	2	1431	2	MON1B	16	77229553	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	7038964	77229553	13125200	38	3351											
USP6	9098	broad.mit.edu	37	chr17	5042663	5042663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccaccagcccagttccagCggcccatttgctcagcttcc	6	8	8	19	1	1	0	1	0	0	0	3	0	3	0	6	1	4	3	6	1	0	3			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:5042663C>T	uc002gau.1	+	21	3422	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	USP6_uc002gav.1_Missense_Mutation_p.R398W|USP6_uc010ckz.1_Missense_Mutation_p.R81W|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	398					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAGTTCCAGCGGCCCATTTG	0.657			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5042663	C	T	5042663	3	4	54	1	0	0	0	0	1	0	0	0	17188	759	27	1	1242	1	USP6	17	5042663	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08		5042663	76152547	39	3352											
MKS1	54903	broad.mit.edu	37	chr17	56288050	56288050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattctacaaagaagtggaCgtagagattgtcatactcat	15	11	8	7	1	3	2	2	0	1	2	3	4	3	3	0	1	2	1	0	1	6	5			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:56288050C>T	uc002ivr.2	-	10	1069	c.994G>A	c.(994-996)Gtc>Atc	p.V332I	MKS1_uc010wnq.2_Missense_Mutation_p.V129I|MKS1_uc021uam.1_Missense_Mutation_p.V322I	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	332	B9.				cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAAGTGGACGTAGAGATTG	0.423													T	56288050	C	T	56288050	3	4	54	1	0	0	0	0	1	0	0	0	9684	536	19	1	717	1	MKS1	17	56288050	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	51245387	56288050	24907160	40	3353											
LLGL2	3993	broad.mit.edu	37	chr17	73555474	73555474	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccggaccatcagctcGgacgcggtgctgcagcggtg	7	5	17	12	5	1	0	1	0	0	0	2	4	1	3	2	5	4	3	2	5	0	0			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:73555474G>C	uc002joh.3	+	5	667	c.513G>C	c.(511-513)tcG>tcC	p.S171S	LLGL2_uc002jog.1_Silent_p.S171S|LLGL2_uc010dgf.1_Silent_p.S171S|LLGL2_uc002joi.3_Silent_p.S171S|LLGL2_uc010dgg.2_Silent_p.S171S|LLGL2_uc002joj.3_Silent_p.S160S	NM_001031803	NP_001026973	Q6P1M3	L2GL2_HUMAN	Homo sapiens lethal giant larvae homolog 2 (Drosophila) (LLGL2), transcript variant 3, mRNA.	171					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCATCAGCTCGGACGCGGTGC	0.617													C	73555474	G	C	73555474	2	2	54	1	0	0	0	0	0	0	0	1	8895	1103	39	4		4	LLGL2	17	73555474	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	17267424	73555474	7639736	41	3354											
RNF213	57674	broad.mit.edu	37	chr17	78355436	78355436	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacctggagcagttggccaaGatgctgggacacagtgccga	10	6	15	10	1	0	1	0	0	0	1	0	5	0	3	3	3	3	3	3	3	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr17:78355436G>A	uc002jyh.2	+	57	14177	c.14034G>A	c.(14032-14034)aaG>aaA	p.K4678K	RNF213_uc021uen.1_Silent_p.K4629K|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGTTGGCCAAGATGCTGGGAC	0.567													A	78355436	G	A	78355436	2	1	54	1	0	0	0	0	0	0	0	1	13568	933	33	2		2	RNF213	17	78355436	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	4799962	78355436	2839774	42	3355											
DSC3	1825	broad.mit.edu	37	chr18	28584256	28584256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgttgcagcttggccggcCctgtcttttacagtaatagg	6	15	11	9	1	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	3	7			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr18:28584256C>T	uc002kwj.4	-	12	2120	c.1965G>A	c.(1963-1965)agG>agA	p.R655R	DSC3_uc002kwi.4_Silent_p.R655R	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	655	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CTTGGCCGGCCCTGTCTTTTA	0.383													T	28584256	C	T	28584256	2	4	54	1	0	0	0	0	0	0	0	1	4806	622	22	2		2	DSC3	18	28584256	Silent	SNP	C	TCGA-06-0646-01A-01D-1492-08		28584256	49492992	43	3356											
MUC16	94025	broad.mit.edu	37	chr19	9090417	9090417	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagatggacttctgatcttGctgtcaagagttgtaaaacc	11	13	10	7	0	3	3	1	2	2	2	3	5	3	4	1	1	2	3	1	1	3	4			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:9090417G>C	uc002mkp.3	-	0	1602	c.1398C>G	c.(1396-1398)agC>agG	p.S466R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	466	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S466R(3)		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						TTCTGATCTTGCTGTCAAGAG	0.522													C	9090417	G	C	9090417	3	2	54	1	0	0	0	0	1	0	0	0	10049	1310	46	4	42461	4	MUC16	19	9090417	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		9090417	50038566	44	3357											
ZNF571	51276	broad.mit.edu	37	chr19	38056190	38056193	+	Frame_Shift_Del	DEL	GTAA	GTAA	-																															cctgaatgaactctcaggtgGtaagtaagttgtgagccacg																										TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr19:38056190_38056193delGTAA	uc002ogs.1	-						LOC100507433_uc002ogm.3_Intron|LOC100507433_uc002ogn.3_Intron|LOC100507433_uc002ogo.3_Intron|LOC100507433_uc002ogp.3_Intron|LOC100507433_uc002ogq.3_Intron|ZNF571_uc002ogr.1_Intron|ZNF571_uc002ogt.3_Frame_Shift_Del_p.T379fs|ZNF571_uc010efp.3_Frame_Shift_Del_p.T379fs			Q7Z3V5	ZN571_HUMAN	Homo sapiens zinc finger protein 571, mRNA (cDNA clone MGC:138690 IMAGE:40036719), complete cds.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTCTCAGGTGGTAAGTAAGTTGTG	0.377													-	38056193	GTAA	-	38056190	7	5	54	1	0	1	0	1	0	0	0	0	18104	1256	44	0	693	0	ZNF571	19	38056190	Frame_Shift_Del	DEL	GTAA	TCGA-06-0646-01A-01D-1492-08	28965773	38056190	21072793	45	3358											
REM1	28954	broad.mit.edu	37	chr20	30072181	30072181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcccgcagcgcacgccGccgggcactcaaggcccgct	7	2	13	19	6	1	0	1	0	0	0	1	1	1	0	4	2	2	4	4	2	1	0			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30072181G>A	uc002wwa.3	+	4	1129	c.845G>A	c.(844-846)cGc>cAc	p.R282H	LINC00028_uc010ztn.1_5'Flank	NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	282	Arg-rich.|Calmodulin-binding (By similarity).				small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			AGCGCACGCCGCCGGGCACTC	0.701													A	30072181	G	A	30072181	3	1	54	1	0	0	0	0	1	0	0	0	13310	1087	38	1	859	1	REM1	20	30072181	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08		30072181	32953339	46	3359											
HCK	3055	broad.mit.edu	37	chr20	30689234	30689234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctggaaaaaccgtcCggaggagcggccgaccttcg	8	5	15	13	6	0	0	0	0	0	0	2	4	1	3	4	4	3	2	4	4	2	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:30689234C>T	uc002wxh.3	+	12	1730	c.1493C>T	c.(1492-1494)cCg>cTg	p.P498L	HCK_uc010gdy.3_Missense_Mutation_p.P478L|HCK_uc021wbv.1_Missense_Mutation_p.P477L|HCK_uc002wxi.3_Missense_Mutation_p.P476L	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	498	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P477L(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AAAAACCGTCCGGAGGAGCGG	0.572													T	30689234	C	T	30689234	3	4	54	1	0	0	0	0	1	0	0	0	7049	652	23	1	1549	1	HCK	20	30689234	Missense_Mutation	SNP	C	TCGA-06-0646-01A-01D-1492-08	617053	30689234	32336286	47	3360											
ELMO2	63916	broad.mit.edu	37	chr20	45023078	45023078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgggcgttagcacctGgccactcaatggccactttg	7	9	13	12	1	1	0	1	0	0	0	1	1	1	1	3	4	2	3	3	4	2	2			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chr20:45023078G>A	uc010zxr.1	-	2	254	c.44C>T	c.(43-45)cCa>cTa	p.P15L	ELMO2_uc002xrt.1_Missense_Mutation_p.P15L|ELMO2_uc002xru.1_Missense_Mutation_p.P15L|ELMO2_uc010zxs.1_5'UTR|ELMO2_uc002xrx.1_Missense_Mutation_p.P15L	NM_182764	NP_877496	Q96JJ3	ELMO2_HUMAN	Homo sapiens engulfment and cell motility 2 (ELMO2), transcript variant 2, mRNA.	15					apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				GTTAGCACCTGGCCACTCAAT	0.547													A	45023078	G	A	45023078	3	1	54	1	0	0	0	0	1	0	0	0	5107	1348	47	2	2198	2	ELMO2	20	45023078	Missense_Mutation	SNP	G	TCGA-06-0646-01A-01D-1492-08	14333844	45023078	18002442	48	3361											
ACRC	93953	broad.mit.edu	37	chrX	70823913	70823913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagcagtgatgattcGgaagctcccgacgacagcag	12	5	13	11	4	0	2	0	2	0	0	2	7	1	3	1	1	3	3	1	1	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823913G>A	uc004eae.2	+	7	1287	c.786G>A	c.(784-786)tcG>tcA	p.S262S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	262	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.552													A	70823913	G	A	70823913	2	1	54	1	0	0	0	0	0	0	0	1	171	1103	39	1		1	ACRC	23	70823913	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08		70823913	84446647	49	3362			1	6		2	2	31	G		4.845353e-05
ACRC	93953	broad.mit.edu	37	chrX	70823943	70823943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagcagtgatgattcGgaagctcccgacgacagcag	12	5	13	11	4	0	2	0	2	0	0	2	7	1	3	1	1	3	3	1	1	1	1			TCGA-06-0646-01A-01D-1492-08	TCGA-06-0646-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89742b5d-0256-48c7-8d8f-41b6e5e5b561	3d9ff278-deb8-47a5-b14d-7be8db09d4d7	g.chrX:70823943G>A	uc004eae.2	+	7	1317	c.816G>A	c.(814-816)tcG>tcA	p.S272S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	272	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GTGATGATTCGGAAGCTCCCG	0.557													A	70823943	G	A	70823943	2	1	54	1	0	0	0	0	0	0	0	1	171	1103	39	1		1	ACRC	23	70823943	Silent	SNP	G	TCGA-06-0646-01A-01D-1492-08	30	70823943	84446617	50	3363			1	6		2	2	31	G		4.845353e-05
DBT	1629	broad.mit.edu	37	chr1	100706430	100706430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccacatgtttgaaaatagCgaacacaaatctacagatga	18	9	6	8	1	1	3	0	2	1	1	1	4	1	3	1	0	4	1	1	0	7	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:100706430C>T	uc001dta.3	-	1	95	c.62G>A	c.(61-63)cGc>cAc	p.R21H	DBT_uc010oug.2_5'UTR|DBT_uc021oqo.1_Missense_Mutation_p.R21H	NM_001918	NP_001909	P11182	ODB2_HUMAN	Homo sapiens dihydrolipoamide branched chain transacylase E2 (DBT), nuclear gene encoding mitochondrial protein, mRNA.	21					branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTGAAAATAGCGAACACAAAT	0.313													T	100706430	C	T	100706430	3	4	55	1	0	0	0	0	1	0	0	0	4292	768	27	1	1426	1	DBT	1	100706430	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		100706430	148544191	1	3364											
ANP32E	81611	broad.mit.edu	37	chr1	150202934	150202934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactgtactgagatcttttAttttgtttccactcagattg	8	19	6	8	0	2	2	1	1	1	2	3	3	3	2	1	0	2	2	1	0	3	8			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:150202934A>G	uc001etw.3	-	2	669	c.299T>C	c.(298-300)aTa>aCa	p.I100T	ANP32E_uc010pbu.2_Missense_Mutation_p.I52T|ANP32E_uc010pbv.2_Intron|ANP32E_uc001etv.4_Missense_Mutation_p.I100T|ANP32E_uc010pbw.1_Missense_Mutation_p.I100T	NM_030920	NP_001129951	Q9BTT0	AN32E_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member E (ANP32E), transcript variant 1, mRNA.	100						cytoplasmic membrane-bounded vesicle|nucleus	phosphatase inhibitor activity			breast(3)|endometrium(3)|lung(7)|skin(1)|urinary_tract(1)	15	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGATCTTTTATTTTGTTTCC	0.363													G	150202934	A	G	150202934	3	3	55	1	0	0	0	0	1	0	0	0	709	449	16	3	527	3	ANP32E	1	150202934	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	49496504	150202934	99047687	2	3365											
HMCN1	83872	broad.mit.edu	37	chr1	186084452	186084452	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagtaaatgttcaaactactCtggcttgtgaggctactggg	10	13	11	7	0	2	1	1	1	1	0	2	1	2	1	0	3	3	4	0	3	6	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:186084452C>T	uc001grq.1	+	74	11696	c.11467C>T	c.(11467-11469)Ctg>Ttg	p.L3823L	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3823	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAACTACTCTGGCTTGTGA	0.398													T	186084452	C	T	186084452	2	4	55	1	0	0	0	0	0	0	0	1	7275	912	32	2		2	HMCN1	1	186084452	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	35881518	186084452	63166169	3	3366											
SMYD2	56950	broad.mit.edu	37	chr1	214505455	214505455	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacatgttgcacatgatgtaCcaggccatgggtgtctgctt	8	13	11	9	0	1	1	0	1	1	0	1	1	1	1	2	2	4	4	2	2	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr1:214505455C>A	uc021pix.1	+	9	1065	c.1032C>A	c.(1030-1032)taC>taA	p.Y344*	SMYD2_uc009xdl.1_Intron	NM_020197	NP_064582	Q9NRG4	SMYD2_HUMAN	Homo sapiens SET and MYND domain containing 2 (SMYD2), mRNA.	344					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	cytosol|nucleus	histone methyltransferase activity (H3-K36 specific)|p53 binding|RNA polymerase II core binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(81;0.0122)|all cancers(67;0.0209)|GBM - Glioblastoma multiforme(131;0.106)|Epithelial(68;0.144)		ACATGATGTACCAGGCCATGG	0.517											OREG0012979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	214505455	C	A	214505455	4	1	55	1	0	0	0	0	0	1	0	0	14916	518	18	4	1070	4	SMYD2	1	214505455	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	28421003	214505455	34745166	4	3367											
CCDC88A	55704	broad.mit.edu	37	chr2	55561635	55561635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggatttttttattgctGttctctaaagttttttgcag	6	22	8	5	0	1	0	0	0	1	0	2	1	1	1	0	1	3	5	0	1	3	10			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:55561635G>C	uc002ryv.2	-	14	3164	c.2322C>G	c.(2320-2322)aaC>aaG	p.N774K	CCDC88A_uc010ypa.1_Missense_Mutation_p.N774K|CCDC88A_uc010yoz.1_Missense_Mutation_p.N774K|CCDC88A_uc010ypb.1_Missense_Mutation_p.N676K|CCDC88A_uc002ryu.2_Missense_Mutation_p.N57K|CCDC88A_uc002ryw.3_Missense_Mutation_p.N57K	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	774					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTTTATTGCTGTTCTCTAAAG	0.338													C	55561635	G	C	55561635	3	2	55	1	0	0	0	0	1	0	0	0	2891	1368	48	4	3365	4	CCDC88A	2	55561635	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		55561635	187637738	5	3368											
RMND5A	64795	broad.mit.edu	37	chr2	86992995	86992995	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttagacattcaggttttGatgggaagccttgtgtacct	8	17	10	6	0	1	2	1	1	0	1	1	3	1	3	2	2	2	2	2	2	3	8			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:86992995G>A	uc002srr.2	+	5	1079	c.702G>A	c.(700-702)ttG>ttA	p.L234L	RMND5A_uc002srs.4_Intron	NM_022780	NP_073617	Q9H871	RMD5A_HUMAN	Homo sapiens required for meiotic nuclear division 5 homolog A (S. cerevisiae) (RMND5A), mRNA.	234										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TTCAGGTTTTGATGGGAAGCC	0.428													A	86992995	G	A	86992995	2	1	55	1	0	0	0	0	0	0	0	1	13488	1281	45	2		2	RMND5A	2	86992995	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	31431360	86992995	156206378	6	3369											
DDX18	8886	broad.mit.edu	37	chr2	118587005	118587005	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgcctcaggttgctctGtcatttggtttcaaggtgcc	6	16	10	9	0	4	0	3	0	1	0	4	0	4	0	2	3	3	3	2	3	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:118587005G>T	uc002tlh.1	+	12	1932	c.1833G>T	c.(1831-1833)ctG>ctT	p.L611L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	611							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGGTTGCTCTGTCATTTGGTT	0.403													T	118587005	G	T	118587005	2	4	55	1	0	0	0	0	0	0	0	1	4379	1364	48	4		4	DDX18	2	118587005	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	31594010	118587005	124612368	7	3370											
TTN	7273	broad.mit.edu	37	chr2	179556814	179556814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctggcacgggtttcttgGgaacctcaggaactttaaag	9	11	11	10	1	3	0	1	0	2	0	3	2	3	2	2	4	2	2	2	4	4	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179556814G>T	uc021vsy.1	-	117	28184	c.27959C>A	c.(27958-27960)cCc>cAc	p.P9320H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P5981H|TTN_uc010fre.1_Missense_Mutation_p.P431H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10247	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTTCTTGGGAACCTCAGG	0.433													T	179556814	G	T	179556814	3	4	55	1	0	0	0	0	1	0	0	0	16837	1232	43	4	72806	4	TTN	2	179556814	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	60969809	179556814	63642559	8	3371											
TTN	7273	broad.mit.edu	37	chr2	179569962	179569962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatgcttgaagaagacctCggaagtcagtgattccatac	14	9	9	9	1	1	4	1	2	0	2	3	5	2	5	2	1	2	1	2	1	5	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr2:179569962C>T	uc021vsy.1	-	99	26036	c.25811G>A	c.(25810-25812)cGa>cAa	p.R8604Q	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5265Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9531							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGAAGACCTCGGAAGTCAGT	0.383													T	179569962	C	T	179569962	3	4	55	1	0	0	0	0	1	0	0	0	16837	884	31	1	75026	1	TTN	2	179569962	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	13148	179569962	63629411	9	3372											
FGD5	152273	broad.mit.edu	37	chr3	14862435	14862435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgacatcccacctcctttCgacctggcctgcatcaccaa	8	9	6	18	2	1	0	1	0	0	0	5	2	3	0	6	1	1	1	6	1	1	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:14862435C>T	uc003bzc.3	+	0	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_uc011avk.2_Silent_p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	619					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557													T	14862435	C	T	14862435	2	4	55	1	0	0	0	0	0	0	0	1	5885	883	31	1		1	FGD5	3	14862435	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08		14862435	183159995	10	3373											
GCET2	257144	broad.mit.edu	37	chr3	111842437	111842437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatgcctggggtctgtagaAggcatatgtagaagtgaata	12	10	14	5	0	1	3	0	1	1	2	1	3	1	3	1	3	1	4	1	3	7	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:111842437A>G	uc021xcl.1	-	5	593	c.408T>C	c.(406-408)ccT>ccC	p.P136P	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Silent_p.P134P|GCET2_uc021xcm.1_Silent_p.P119P	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	134						mitochondrion		p.S135S(1)		endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GGTCTGTAGAAGGCATATGTA	0.483													G	111842437	A	G	111842437	2	3	55	1	0	0	0	0	0	0	0	1	6342	59	3	3		3	GCET2	3	111842437	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	96980002	111842437	86179993	11	3374											
ABCF3	55324	broad.mit.edu	37	chr3	183907351	183907351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgacccctcagacgtggCcctccaccatcctagtcgtc	6	9	8	18	2	1	2	1	1	0	1	5	2	3	2	6	1	0	0	6	1	1	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr3:183907351C>A	uc003fmz.2	+	12	1253	c.1120C>A	c.(1120-1122)Ccc>Acc	p.P374T	ABCF3_uc003fna.2_Missense_Mutation_p.P368T|ABCF3_uc003fnb.2_Missense_Mutation_p.P55T	NM_018358	NP_060828	Q9NUQ8	ABCF3_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 3 (ABCF3), mRNA.	374	ABC transporter 1.						ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCAGACGTGGCCCTCCACCAT	0.617													A	183907351	C	A	183907351	3	1	55	1	0	0	0	0	1	0	0	0	67	739	26	4	1170	4	ABCF3	3	183907351	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	72064914	183907351	14115079	12	3375											
EVC2	132884	broad.mit.edu	37	chr4	5630350	5630350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaaggccctgcacacGggtctctgatgactggaggt	8	8	14	11	1	2	3	1	2	1	1	3	4	2	4	1	4	1	2	1	4	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:5630350G>A	uc003gij.3	-	11	1876	c.1822C>T	c.(1822-1824)Cgt>Tgt	p.R608C	EVC2_uc003gik.3_Missense_Mutation_p.R528C|EVC2_uc011bwb.2_Missense_Mutation_p.R48C	NM_147127	NP_667338	Q86UK5	LBN_HUMAN	Homo sapiens Ellis van Creveld syndrome 2 (EVC2), transcript variant 1, mRNA.	608						integral to membrane		p.R608H(2)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CCCTGCACACGGGTCTCTGAT	0.507													A	5630350	G	A	5630350	3	1	55	1	0	0	0	0	1	0	0	0	5327	1116	39	1	2148	1	EVC2	4	5630350	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		5630350	185523926	13	3376											
SLC2A9	56606	broad.mit.edu	37	chr4	9889261	9889261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggggacccagggggcGtggtcctgggagagaacagg	9	4	21	7	1	0	1	0	0	0	1	1	4	1	3	2	8	1	1	2	8	2	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:9889261G>A	uc003gmc.3	-	9	1282	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	SLC2A9_uc003gmd.3_Silent_p.H378H	NM_020041	NP_064425	Q9NRM0	GTR9_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 9 (SLC2A9), transcript variant 1, mRNA.	407					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCCAGGGGGCGTGGTCCTGGG	0.632													A	9889261	G	A	9889261	2	1	55	1	0	0	0	0	0	0	0	1	14646	1136	40	1		1	SLC2A9	4	9889261	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	4258911	9889261	181265015	14	3377											
PCDH7	5099	broad.mit.edu	37	chr4	30724267	30724267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttaacatcaaagacgAgaacgacaacgtgccgtcca	14	6	9	12	4	1	2	1	0	0	2	3	4	3	2	3	1	4	0	3	1	4	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:30724267A>G	uc003gsk.1	+	0	2231	c.1223A>G	c.(1222-1224)gAg>gGg	p.E408G	PCDH7_uc011bxx.2_Missense_Mutation_p.E408G|PCDH7_uc021xnd.1_Missense_Mutation_p.E408G|PCDH7_uc021xnc.1_Missense_Mutation_p.E408G	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	408	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATCAAAGACGAGAACGACAAC	0.642													G	30724267	A	G	30724267	3	3	55	1	0	0	0	0	1	0	0	0	11592	304	11	3	1225	3	PCDH7	4	30724267	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	20835006	30724267	160430009	15	3378											
CXCL6	6372	broad.mit.edu	37	chr4	74702791	74702791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttccccgcaggcccgCagtgctccaaggtggaagtg	7	7	15	12	2	0	0	0	0	0	0	2	1	2	1	4	4	1	4	4	4	2	1	rs149811429		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:74702791C>A	uc003hhf.3	+	1	415	c.220C>A	c.(220-222)Cag>Aag	p.Q74K		NM_002993	NP_002984	P80162	CXCL6_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 6 (granulocyte chemotactic protein 2) (CXCL6), mRNA.	74					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding	p.P73P(1)		large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCAGGCCCGCAGTGCTCCAA	0.542													A	74702791	C	A	74702791	3	1	55	1	0	0	0	0	1	0	0	0	4121	711	25	4	226	4	CXCL6	4	74702791	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	43978524	74702791	116451485	16	3379											
NPNT	255743	broad.mit.edu	37	chr4	106863540	106863540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccattttaaagggtgaCacaggaaataataattggat	16	11	10	4	0	0	1	0	1	0	0	0	3	0	3	1	4	1	1	1	4	6	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:106863540C>A	uc011cfd.2	+	8	1143	c.930C>A	c.(928-930)gaC>gaA	p.D310E	NPNT_uc011cfc.2_Missense_Mutation_p.D297E|NPNT_uc011cfe.2_Missense_Mutation_p.D310E|NPNT_uc003hya.3_Missense_Mutation_p.D280E|NPNT_uc011cff.2_Missense_Mutation_p.D280E	NM_001184691	NP_001171620	Q6UXI9	NPNT_HUMAN	Homo sapiens nephronectin (NPNT), transcript variant 3, mRNA.	280	Pro-rich.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TAAAGGGTGACACAGGAAATA	0.393													A	106863540	C	A	106863540	3	1	55	1	0	0	0	0	1	0	0	0	10666	477	17	4	1019	4	NPNT	4	106863540	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	32160749	106863540	84290736	17	3380											
TLL1	7092	broad.mit.edu	37	chr4	166960565	166960565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactatattgaagtaagagaCgggtactggagaaaatcacc	16	8	11	6	1	1	3	1	1	0	2	1	6	1	3	1	2	1	2	1	2	7	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:166960565C>T	uc003irh.2	+	9	1880	c.1233C>T	c.(1231-1233)gaC>gaT	p.D411D	TLL1_uc011cjn.2_Silent_p.D411D|TLL1_uc011cjo.2_Silent_p.D235D	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	411	CUB 1.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAGTAAGAGACGGGTACTGGA	0.388													T	166960565	C	T	166960565	2	4	55	1	0	0	0	0	0	0	0	1	16045	535	19	1		1	TLL1	4	166960565	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	60097025	166960565	24193711	18	3381											
ODZ3	55714	broad.mit.edu	37	chr4	183594220	183594220	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagaacttgatattggcCgaagagcaattcaagagatt	14	9	11	7	2	1	4	1	1	0	3	1	7	1	4	2	2	2	1	2	2	5	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594220C>T	uc003ivd.1	+	5	1249	c.1174C>T	c.(1174-1176)Cga>Tga	p.R392*		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	392					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TGATATTGGCCGAAGAGCAAT	0.388													T	183594220	C	T	183594220	4	4	55	1	0	0	0	0	0	1	0	0	10912	644	23	1	1196	1	ODZ3	4	183594220	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	16633655	183594220	7560056	19	3382											
ODZ3	55714	broad.mit.edu	37	chr4	183594343	183594343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgattggagtatatggcCggaaaggcttaccgccttcc	9	11	11	10	2	0	1	0	1	0	0	1	3	1	3	4	4	1	2	4	4	4	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:183594343C>T	uc003ivd.1	+	5	1372	c.1297C>T	c.(1297-1299)Cgg>Tgg	p.R433W		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	433					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGTATATGGCCGGAAAGGCTT	0.388													T	183594343	C	T	183594343	3	4	55	1	0	0	0	0	1	0	0	0	10912	643	23	1	1319	1	ODZ3	4	183594343	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	123	183594343	7559933	20	3383											
FAT1	2195	broad.mit.edu	37	chr4	187557880	187557880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggccctcatccttgtcGgtggctatgacgtgatagag	6	12	14	9	2	1	3	1	2	0	1	3	3	2	3	2	4	0	1	2	4	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr4:187557880G>A	uc003izf.3	-	4	4019	c.3831C>T	c.(3829-3831)acC>acT	p.T1277T		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	1277	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATCCTTGTCGGTGGCTATGA	0.493										HNSCC(5;0.00058)			A	187557880	G	A	187557880	2	1	55	1	0	0	0	0	0	0	0	1	5738	1103	39	1		1	FAT1	4	187557880	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	3963537	187557880	3596396	21	3384											
TTC37	9652	broad.mit.edu	37	chr5	94856458	94856458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttttctatgtagtctacGgcttttccatcaagataatc	9	17	6	9	1	3	1	1	0	2	1	5	1	4	1	1	1	1	3	1	1	5	8			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:94856458G>A	uc003klb.3	-	19	2373	c.2076C>T	c.(2074-2076)gcC>gcT	p.A692A		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	692							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TGTAGTCTACGGCTTTTCCAT	0.299													A	94856458	G	A	94856458	2	1	55	1	0	0	0	0	0	0	0	1	16807	1103	39	1		1	TTC37	5	94856458	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		94856458	86058802	22	3385											
DMXL1	1657	broad.mit.edu	37	chr5	118503534	118503534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgctctggaaacattaatAaagcaacctatcagagagaa	17	8	9	7	0	2	2	1	0	1	2	2	4	2	3	1	2	4	2	1	2	7	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:118503534A>G	uc010jcl.1	+	22	5554	c.5373A>G	c.(5371-5373)atA>atG	p.I1791M	DMXL1_uc003ksd.2_Missense_Mutation_p.I1791M|DMXL1_uc021ycw.1_Missense_Mutation_p.I1618M	NM_005509	NP_005500	Q9Y485	DMXL1_HUMAN	Homo sapiens Dmx-like 1 (DMXL1), mRNA.	1791										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAACATTAATAAAGCAACCTA	0.343													G	118503534	A	G	118503534	3	3	55	1	0	0	0	0	1	0	0	0	4633	352	13	3	5463	3	DMXL1	5	118503534	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	23647076	118503534	62411726	23	3386											
ABLIM3	22885	broad.mit.edu	37	chr5	148620291	148620291	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagttagatgtgaggtcCtccactccaacctcttacca	10	10	7	14	0	1	2	0	1	1	1	4	2	4	2	6	1	3	1	6	1	3	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:148620291C>G	uc003lpy.2	+	13	1508	c.1257C>G	c.(1255-1257)tcC>tcG	p.S419S	ABLIM3_uc003lpz.1_Silent_p.S419S|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Intron|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	419					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGTGAGGTCCTCCACTCCAA	0.572													G	148620291	C	G	148620291	2	3	55	1	0	0	0	0	0	0	0	1	96	668	24	4		4	ABLIM3	5	148620291	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	30116757	148620291	32294969	24	3387											
SLIT3	6586	broad.mit.edu	37	chr5	168112727	168112727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggggtcggaccttggCggaggccagttccacgtagg	5	7	18	11	3	0	0	0	0	0	0	2	2	1	2	4	8	0	2	4	8	1	3	rs150873620	by1000genomes	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:168112727C>T	uc010jjg.3	-	30	3961	c.3541G>A	c.(3541-3543)Gcc>Acc	p.A1181T	SLIT3_uc003mab.3_Missense_Mutation_p.A1174T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1174	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.A1174T(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGGACCTTGGCGGAGGCCAGT	0.627													T	168112727	C	T	168112727	3	4	55	1	0	0	0	0	1	0	0	0	14835	768	27	1	1075	1	SLIT3	5	168112727	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	19492436	168112727	12802533	25	3388											
STK10	6793	broad.mit.edu	37	chr5	171479966	171479966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcttgtcccgccattcCttcaggttctggttatggct	5	14	10	12	2	2	0	1	0	1	0	4	1	4	0	3	3	1	4	3	3	2	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:171479966C>T	uc003mbo.1	-	17	3033	c.2733G>A	c.(2731-2733)aaG>aaA	p.K911K		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	911							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CCCGCCATTCCTTCAGGTTCT	0.567													T	171479966	C	T	171479966	2	4	55	1	0	0	0	0	0	0	0	1	15382	680	24	2		2	STK10	5	171479966	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	3367239	171479966	9435294	26	3389											
LMAN2	10960	broad.mit.edu	37	chr5	176765541	176765541	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgatgccgtctccatggagGttcttcttccctgtgccgtg	3	13	12	13	3	3	0	0	0	3	0	5	2	4	1	4	2	2	1	4	2	0	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:176765541G>A	uc003mge.3	-	2	618	c.381C>T	c.(379-381)aaC>aaT	p.N127N		NM_006816	NP_006807	Q12907	LMAN2_HUMAN	Homo sapiens lectin, mannose-binding 2 (LMAN2), mRNA.	127	L-type lectin-like.				protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	metal ion binding|sugar binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCCATGGAGGTTCTTCTTCC	0.632													A	176765541	G	A	176765541	2	1	55	1	0	0	0	0	0	0	0	1	8899	1252	44	2		2	LMAN2	5	176765541	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	5285575	176765541	4149719	27	3390											
CANX	821	broad.mit.edu	37	chr5	179132740	179132740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaactgctattgttgagGctcatgatggacatgatgat	10	14	12	5	0	1	4	1	4	0	0	1	6	1	6	0	3	2	3	0	3	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr5:179132740G>A	uc011dgp.2	+	1	238	c.163G>A	c.(163-165)Gct>Act	p.A55T	CANX_uc010jlb.1_Missense_Mutation_p.A20T|CANX_uc003mkk.3_Missense_Mutation_p.A20T|CANX_uc003mkl.3_Missense_Mutation_p.A20T|CANX_uc011dgq.2_5'UTR	NM_001746	NP_001737	P27824	CALX_HUMAN	Homo sapiens calnexin (CANX), transcript variant 1, mRNA.	20					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	tattgttgaggctcatgatgg	0.423													A	179132740	G	A	179132740	3	1	55	1	0	0	0	0	1	0	0	0	2644	1203	42	2	60	2	CANX	5	179132740	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	2367199	179132740	1782520	28	3391											
ABCF1	23	broad.mit.edu	37	chr6	30552069	30552069	+	Frame_Shift_Del	DEL	G	G	-																															cggcggcttcagggacagctGgaacaaggggatgacacagc																										TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:30552069delG	uc003nql.3	+	12	1298	c.1203delG	c.(1201-1203)ctgfs	p.L401fs	ABCF1_uc003nqk.2_Frame_Shift_Del_p.L402fs|ABCF1_uc003nqm.3_Frame_Shift_Del_p.L363fs|MIR877_uc021yud.1_5'Flank	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	401	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AGGGACAGCTGGAACAAGGGG	0.592													-	30552069	G	-	30552069	7	5	55	1	0	1	0	1	0	0	0	0	65	1335	47	0	1253	0	ABCF1	6	30552069	Frame_Shift_Del	DEL	G	TCGA-06-0648-01A-01W-0323-08		30552069	140562998	29	3392											
LRFN2	57497	broad.mit.edu	37	chr6	40359856	40359856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgacccctcccgccgcCgcagcagcaaagtcccccat	8	3	9	21	4	0	0	0	0	0	0	2	1	2	0	7	1	2	4	7	1	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40359856C>T	uc003oph.1	-	2	2661	c.2196G>A	c.(2194-2196)gcG>gcA	p.A732A		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	732						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCCGCCGCCGCAGCAGCAA	0.682													T	40359856	C	T	40359856	2	4	55	1	0	0	0	0	0	0	0	1	9008	639	23	1		1	LRFN2	6	40359856	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	9807787	40359856	130755211	30	3393											
UNC5CL	222643	broad.mit.edu	37	chr6	40996138	40996138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctcgtccagctccaggcCctggttatcccgggcgcccc	3	9	10	19	3	1	0	0	0	1	0	5	0	4	0	6	3	1	2	6	3	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:40996138C>T	uc003opi.3	-	8	1630	c.1531G>A	c.(1531-1533)Ggc>Agc	p.G511S		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	511					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCTCCAGGCCCTGGTTATCC	0.687											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40996138	C	T	40996138	3	4	55	1	0	0	0	0	1	0	0	0	17096	623	22	2	29	2	UNC5CL	6	40996138	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	636282	40996138	130118929	31	3394											
SMPD2	6610	broad.mit.edu	37	chr6	109764877	109764877	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtcctggcggctggAggaggggccggggaagctgc	4	7	21	9	2	0	0	0	0	0	0	1	3	1	3	2	8	2	2	2	8	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:109764877A>G	uc003pti.3	+	9	1435	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	PPIL6_uc010kdp.3_5'Flank|PPIL6_uc003ptg.4_5'Flank|PPIL6_uc021zdq.1_5'Flank|PPIL6_uc003pth.1_5'Flank	NM_003080	NP_003071	O60906	NSMA_HUMAN	Homo sapiens sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase) (SMPD2), mRNA.	347					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TGGCGGCTGGAGGAGGGGCCG	0.632													G	109764877	A	G	109764877	2	3	55	1	0	0	0	0	0	0	0	1	14899	291	11	3		3	SMPD2	6	109764877	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	68768739	109764877	61350190	32	3395											
UTRN	7402	broad.mit.edu	37	chr6	144809879	144809879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaccagatgcttcaagTcttgcaagagagcttggggg	11	9	13	8	0	2	3	1	1	1	2	2	4	2	3	1	2	4	3	1	2	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr6:144809879T>A	uc003qkt.3	+	28	4135	c.4043T>A	c.(4042-4044)gTc>gAc	p.V1348D		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	1348	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGCTTCAAGTCTTGCAAGAG	0.483													A	144809879	T	A	144809879	3	1	55	1	0	0	0	0	1	0	0	0	17205	1667	58	5	4157	5	UTRN	6	144809879	Missense_Mutation	SNP	T	TCGA-06-0648-01A-01W-0323-08	35045002	144809879	26305188	33	3396											
SLC29A4	222962	broad.mit.edu	37	chr7	5330480	5330480	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggacgtggactacctgcAtcacaagtacccaggtgggt	10	7	12	12	2	1	0	1	0	0	0	1	2	1	2	2	4	3	2	2	4	3	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:5330480A>G	uc003sod.3	+	2	448	c.287A>G	c.(286-288)cAt>cGt	p.H96R	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.H96R|SLC29A4_uc003soe.3_Missense_Mutation_p.H96R	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	96					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GACTACCTGCATCACAAGTAC	0.627													G	5330480	A	G	5330480	3	3	55	1	0	0	0	0	1	0	0	0	14631	217	8	3	293	3	SLC29A4	7	5330480	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08		5330480	153808183	34	3397											
STK31	56164	broad.mit.edu	37	chr7	23830449	23830449	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgtttttgcagagtcagCgagcctcggtgaacatgatg	9	13	12	7	2	1	3	1	2	0	1	2	4	1	3	1	1	4	2	1	1	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:23830449C>T	uc003sws.4	+	21	2711	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	STK31_uc003swt.4_Nonsense_Mutation_p.R859*|STK31_uc011jze.2_Nonsense_Mutation_p.R882*|STK31_uc010kuq.3_Nonsense_Mutation_p.R859*|STK31_uc003swv.1_Nonsense_Mutation_p.R48*	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	882	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GCAGAGTCAGCGAGCCTCGGT	0.378													T	23830449	C	T	23830449	4	4	55	1	0	0	0	0	0	1	0	0	15392	760	27	1	2730	1	STK31	7	23830449	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	18499969	23830449	135308214	35	3398											
EGFR	1956	broad.mit.edu	37	chr7	55233035	55233035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccactgcgtcaagacctgCccggcaggagtcatgggaga	9	5	13	14	2	2	2	2	0	0	2	2	4	2	3	4	3	2	1	4	3	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr7:55233035C>T	uc003tqk.3	+	14	2031	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	EGFR_uc003tqi.3_Silent_p.C595C|EGFR_uc003tqj.3_Silent_p.C595C|EGFR_uc022adm.1_Silent_p.C595C|EGFR_uc010kzg.2_Silent_p.C550C|EGFR_uc022adn.1_Silent_p.C550C|EGFR_uc011kco.2_Silent_p.C542C|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	595					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCAAGACCTGCCCGGCAGGAG	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233035	C	T	55233035	2	4	55	1	0	0	0	0	0	0	0	1	5006	747	26	2		2	EGFR	7	55233035	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	31402586	55233035	103905628	36	3399											
MCM4	4173	broad.mit.edu	37	chr8	48889249	48889249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctcttccccacaggcaAttactaaagatatgtttgaa	12	14	5	10	0	1	2	0	1	1	1	3	2	2	2	2	1	1	2	2	1	6	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr8:48889249A>G	uc003xqk.2	+	16	3329	c.2503A>G	c.(2503-2505)Att>Gtt	p.I835V	MCM4_uc003xql.2_Missense_Mutation_p.I835V|MCM4_uc011ldi.2_Missense_Mutation_p.I822V	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	835					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding	p.A834T(1)		biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCCACAGGCAATTACTAAAGA	0.423													G	48889249	A	G	48889249	3	3	55	1	0	0	0	0	1	0	0	0	9464	101	4	3	2565	3	MCM4	8	48889249	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08		48889249	97474773	37	3400											
TTC39B	158219	broad.mit.edu	37	chr9	15185345	15185345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgccgagccttcctcacaGcaaacttctcagtagggata	12	8	8	13	2	2	0	2	0	1	0	4	2	3	1	3	1	4	2	3	1	4	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:15185345G>A	uc003zlr.2	-	15	1584	c.1547C>T	c.(1546-1548)gCt>gTt	p.A516V	TTC39B_uc003zlq.2_Missense_Mutation_p.A419V|TTC39B_uc011lmp.2_Missense_Mutation_p.A351V|TTC39B_uc010mie.2_Missense_Mutation_p.A514V|TTC39B_uc011lmr.2_Missense_Mutation_p.A447V|TTC39B_uc011lmq.2_Missense_Mutation_p.A503V|TTC39B_uc003zlp.2_Missense_Mutation_p.A33V	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	450							binding	p.D516Y(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CTTCCTCACAGCAAACTTCTC	0.507													A	15185345	G	A	15185345	3	1	55	1	0	0	0	0	1	0	0	0	16810	971	34	2	521	2	TTC39B	9	15185345	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		15185345	126028086	38	3401											
SMC2	10592	broad.mit.edu	37	chr9	106885401	106885401	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgtaaggtatcgccaactAaaacagcagtgggagatgaa	15	9	11	6	1	0	2	0	1	0	1	1	3	0	2	1	2	3	3	1	2	6	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:106885401A>G	uc004bbv.3	+	16	2433	c.2145A>G	c.(2143-2145)ctA>ctG	p.L715L	SMC2_uc004bbu.1_Silent_p.L715L|SMC2_uc004bbw.3_Silent_p.L715L|SMC2_uc011lvl.2_Silent_p.L715L|SMC2_uc004bbx.3_Silent_p.L715L	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	715					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						ATCGCCAACTAAAACAGCAGT	0.348													G	106885401	A	G	106885401	2	3	55	1	0	0	0	0	0	0	0	1	14877	349	13	3		3	SMC2	9	106885401	Silent	SNP	A	TCGA-06-0648-01A-01W-0323-08	91700056	106885401	34328030	39	3402											
COL27A1	85301	broad.mit.edu	37	chr9	117071558	117071558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcgagtttgccatcagcCgggtccagatgaatttcctg	8	11	12	10	2	1	2	1	1	0	1	4	3	3	2	4	2	2	1	4	2	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117071558C>T	uc011lxl.2	+	59	5236	c.5236C>T	c.(5236-5238)Cgg>Tgg	p.R1746W	COL27A1_uc004bii.3_Non-coding_Transcript|COL27A1_uc011lxn.2_Missense_Mutation_p.R61W	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1746	Fibrillar collagen NC1.				cell adhesion		extracellular matrix structural constituent	p.R1746L(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCCATCAGCCGGGTCCAGAT	0.607													T	117071558	C	T	117071558	3	4	55	1	0	0	0	0	1	0	0	0	3716	643	23	1	5474	1	COL27A1	9	117071558	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	10186157	117071558	24141873	40	3403											
ATP6V1G1	9550	broad.mit.edu	37	chr9	117359986	117359986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttgtctgtgacattcGgccagaaatccatgaaaact	11	12	9	9	1	1	3	0	2	1	1	3	3	2	3	2	2	1	1	2	2	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:117359986G>A	uc004bjc.3	+	2	445	c.320G>A	c.(319-321)cGg>cAg	p.R107Q		NM_004888	NP_004879	O75348	VATG1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G1 (ATP6V1G1), mRNA.	107					cellular iron ion homeostasis|insulin receptor signaling pathway|proton transport|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding|hydrolase activity, acting on acid anhydrides, catalyzing transmembrane movement of substances	p.R107R(1)		endometrium(1)|lung(2)|prostate(1)|skin(1)	5						TGTGACATTCGGCCAGAAATC	0.478													A	117359986	G	A	117359986	3	1	55	1	0	0	0	0	1	0	0	0	1191	1116	39	1	330	1	ATP6V1G1	9	117359986	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	288428	117359986	23853445	41	3404											
NELF	26012	broad.mit.edu	37	chr9	140351900	140351900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcctctccagcttcttgCggcgaccggaggtctcaggc	6	9	11	15	3	3	0	1	0	3	0	6	2	4	1	3	4	2	1	3	4	0	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr9:140351900C>T	uc004cna.3	-	2	819	c.587G>A	c.(586-588)cGc>cAc	p.R196H	NELF_uc011mex.2_5'Flank|NELF_uc010nci.3_5'Flank|NELF_uc011mey.2_Non-coding_Transcript|NELF_uc004cnb.3_Missense_Mutation_p.R196H|NELF_uc004cmz.3_Missense_Mutation_p.R196H|NELF_uc011mez.2_Missense_Mutation_p.R196H|NELF_uc004cnc.3_Missense_Mutation_p.R196H|NELF_uc022bqi.1_Missense_Mutation_p.R196H	NM_001130969	NP_001124441	Q6X4W1	NELF_HUMAN	Homo sapiens nasal embryonic LHRH factor (NELF), transcript variant 1, mRNA.	196						nucleus|plasma membrane				cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	10	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000222)|Epithelial(140;0.000888)		CAGCTTCTTGCGGCGACCGGA	0.652													T	140351900	C	T	140351900	3	4	55	1	0	0	0	0	1	0	0	0	10408	768	27	1	1071	1	NELF	9	140351900	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	22991914	140351900	861531	42	3405											
SLC39A12	221074	broad.mit.edu	37	chr10	18270258	18270258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagacctgcttctctgctagGcagctggtggagatatttct	7	13	11	10	0	2	2	0	0	2	2	3	3	2	2	1	3	3	4	1	3	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:18270258G>A	uc001ipo.2	+	5	1215	c.942G>A	c.(940-942)agG>agA	p.R314R	SLC39A12_uc001ipn.2_Silent_p.R314R|SLC39A12_uc001ipp.2_Silent_p.R314R|SLC39A12_uc010qck.1_Silent_p.R180R	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	314					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCTCTGCTAGGCAGCTGGTGG	0.448													A	18270258	G	A	18270258	2	1	55	1	0	0	0	0	0	0	0	1	14709	1194	42	2		2	SLC39A12	10	18270258	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		18270258	117264489	43	3406											
FAM196A	642938	broad.mit.edu	37	chr10	128973691	128973691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcggggtgtgagtctgCgacggctgctcactacattc	5	9	14	13	4	2	1	1	1	1	0	3	2	2	1	1	4	3	2	1	4	1	2	rs139302074	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr10:128973691C>T	uc001lju.1	-	0	1010	c.969G>A	c.(967-969)tcG>tcA	p.S323S	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Silent_p.S323S|FAM196A_uc001ljv.1_Silent_p.S323S|FAM196A_uc009yap.1_Silent_p.S323S	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	323										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TGTGAGTCTGCGACGGCTGCT	0.642													T	128973691	C	T	128973691	2	4	55	1	0	0	0	0	0	0	0	1	5575	755	27	1		1	FAM196A	10	128973691	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	110703433	128973691	6561056	44	3407											
MRPL23	6150	broad.mit.edu	37	chr11	1973439	1973439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcggacacgggtgcagcatGgtgagtgcccatgggaggtt	7	8	18	8	2	0	1	0	1	0	0	0	3	0	3	1	5	4	3	1	5	0	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:1973439G>C	uc001lux.3	+	3	314	c.223_splice	c.e3+1	p.G75_splice		NM_021134	NP_066957	Q16540	RM23_HUMAN	Homo sapiens mitochondrial ribosomal protein L23 (MRPL23), nuclear gene encoding mitochondrial protein, mRNA.	75					translation	mitochondrial large ribosomal subunit	nucleotide binding|RNA binding|structural constituent of ribosome			large_intestine(2)|lung(1)|ovary(1)	4		all_epithelial(84;6.24e-05)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.0026)|Lung(200;0.0171)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGTGCAGCATGGTGAGTGCCC	0.602													C	1973439	G	C	1973439	3	2	55	1	0	0	0	0	1	0	0	0	9865	1362	47	4	233	4	MRPL23	11	1973439	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		1973439	133033077	45	3408											
ANO5	203859	broad.mit.edu	37	chr11	22239813	22239813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcaaagcgattcaatttgTtcctgaggcggcggcttatg	8	12	12	9	3	1	1	1	1	0	0	2	2	2	1	1	3	2	3	1	3	3	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:22239813T>G	uc001mqi.2	+	3	477	c.160T>G	c.(160-162)Ttc>Gtc	p.F54V	ANO5_uc001mqj.2_Missense_Mutation_p.F53V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	54						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.L53F(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATTCAATTTGTTCCTGAGGCG	0.403													G	22239813	T	G	22239813	3	3	55	1	0	0	0	0	1	0	0	0	700	1725	60	5	174	5	ANO5	11	22239813	Missense_Mutation	SNP	T	TCGA-06-0648-01A-01W-0323-08	20266374	22239813	112766703	46	3409											
OR5D16	390144	broad.mit.edu	37	chr11	55606889	55606889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcattctgacatcttatgCattcatcattgtcaccacct	10	15	3	13	0	6	1	4	1	2	0	6	1	6	1	2	0	1	1	2	0	1	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606889C>A	uc010rio.2	+	0	662	c.662C>A	c.(661-663)gCa>gAa	p.A221E		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACATCTTATGCATTCATCATT	0.468													A	55606889	C	A	55606889	3	1	55	1	0	0	0	0	1	0	0	0	11232	710	25	4	664	4	OR5D16	11	55606889	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	33367076	55606889	79399627	47	3410											
OR5D16	390144	broad.mit.edu	37	chr11	55606937	55606937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttcagccagtgggcaccGcaaagtcttctccacctgtg	7	9	10	15	1	3	0	1	0	2	0	4	0	3	0	5	1	1	2	5	1	1	2	rs148616685		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:55606937G>A	uc010rio.2	+	0	710	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AGTGGGCACCGCAAAGTCTTC	0.488													A	55606937	G	A	55606937	3	1	55	1	0	0	0	0	1	0	0	0	11232	1087	38	1	712	1	OR5D16	11	55606937	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	48	55606937	79399579	48	3411											
OR5M3	219482	broad.mit.edu	37	chr11	56237927	56237927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccattctcgacggctcGttagccccaaaagaatgaac	11	9	8	13	3	1	2	0	1	1	1	3	3	1	2	3	1	3	2	3	1	5	3	rs147367874	byFrequency	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:56237927G>A	uc010rjk.2	-	0	88	c.47C>T	c.(46-48)aCg>aTg	p.T16M	OR8U8_uc001nit.2_Intron	NM_001004742	NP_001004742	Q8NGP4	OR5M3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 3 (OR5M3), mRNA.	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TCGACGGCTCGTTAGCCCCAA	0.383													A	56237927	G	A	56237927	3	1	55	1	0	0	0	0	1	0	0	0	11251	1145	40	1	878	1	OR5M3	11	56237927	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	630990	56237927	78768589	49	3412											
ANO1	55107	broad.mit.edu	37	chr11	69949227	69949227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccctggaacgtgctgtGcagagaggccgagtttctga	7	9	14	11	2	1	2	0	1	1	1	1	5	1	3	3	2	4	3	3	2	1	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:69949227G>A	uc001opj.3	+	2	802	c.497G>A	c.(496-498)tGc>tAc	p.C166Y	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.C138Y	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	166					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AACGTGCTGTGCAGAGAGGCC	0.532													A	69949227	G	A	69949227	3	1	55	1	0	0	0	0	1	0	0	0	695	1319	46	2	507	2	ANO1	11	69949227	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	13711300	69949227	65057289	50	3413											
PAAF1	80227	broad.mit.edu	37	chr11	73627614	73627614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctctttattggctcagacGctttcaactgctgtactttt	6	18	6	11	1	3	1	2	0	1	1	4	1	4	1	1	1	3	4	1	1	3	7			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:73627614G>A	uc001ouk.1	+	8	878	c.844G>A	c.(844-846)Gct>Act	p.A282T	PAAF1_uc001oul.1_Missense_Mutation_p.A265T|PAAF1_uc001oum.1_Missense_Mutation_p.A265T	NM_025155	NP_079431	Q9BRP4	PAAF1_HUMAN	Homo sapiens proteasomal ATPase-associated factor 1 (PAAF1), mRNA.	282					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					TGGCTCAGACGCTTTCAACTG	0.423													A	73627614	G	A	73627614	3	1	55	1	0	0	0	0	1	0	0	0	11438	1087	38	1	878	1	PAAF1	11	73627614	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	3678387	73627614	61378902	51	3414											
XRRA1	143570	broad.mit.edu	37	chr11	74559419	74559419	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcctctggctctagcAtatcctttgagggagacttg	6	13	11	11	0	3	2	0	1	3	1	4	3	4	2	2	2	2	3	2	2	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:74559419A>G	uc009yub.3	-	14	1777	c.1445T>C	c.(1444-1446)aTg>aCg	p.M482T	XRRA1_uc001ovm.2_Non-coding_Transcript|XRRA1_uc001ovn.3_Missense_Mutation_p.M105T|XRRA1_uc001ovo.3_Missense_Mutation_p.M90T|XRRA1_uc001ovp.4_Missense_Mutation_p.M207T|XRRA1_uc001ovq.4_Missense_Mutation_p.M395T|XRRA1_uc001ovr.2_Missense_Mutation_p.M105T|XRRA1_uc001ovs.1_Missense_Mutation_p.M84T	NM_182969	NP_892014	Q6P2D8	XRRA1_HUMAN	Homo sapiens X-ray radiation resistance associated 1 (XRRA1), mRNA.	482					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						TGGCTCTAGCATATCCTTTGA	0.552													G	74559419	A	G	74559419	3	3	55	1	0	0	0	0	1	0	0	0	17563	217	8	3	953	3	XRRA1	11	74559419	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	931805	74559419	60447097	52	3415											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcctccatctgccaCgggctgcaacatacaatggc	9	7	9	16	1	1	0	0	0	1	0	2	0	2	0	4	2	6	2	4	2	3	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr11:130281492C>T	uc001qgg.4	-	5	1928	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													T	130281492	C	T	130281492	3	4	55	1	0	0	0	0	1	0	0	0	272	536	19	1	1115	1	ADAMTS8	11	130281492	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	55722073	130281492	4725024	53	3416											
KRT4	3851	broad.mit.edu	37	chr12	53208029	53208029	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccatccttcccgcacccGttgagcatgtcactaaacac	10	8	6	17	2	1	1	1	1	0	0	3	1	3	1	4	0	3	3	4	0	2	3	rs143824965	by1000genomes	TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:53208029G>A	uc001saz.3	-	0	36	c.36C>T	c.(34-36)aaC>aaT	p.N12N		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	0						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						TCCCGCACCCGTTGAGCATGT	0.542													A	53208029	G	A	53208029	2	1	55	1	0	0	0	0	0	0	0	1	8535	1136	40	1		1	KRT4	12	53208029	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		53208029	80643866	54	3417											
MYO1A	4640	broad.mit.edu	37	chr12	57432332	57432332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacaaggaccgaaggaGggggtgctgggccttccaca	12	4	16	9	1	0	0	0	0	0	0	1	4	1	3	3	6	2	1	3	6	3	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:57432332G>A	uc001smw.4	-	16	1864	c.1624C>T	c.(1624-1626)Ctc>Ttc	p.L542F	MYO1A_uc010sqz.2_Missense_Mutation_p.L380F|MYO1A_uc009zpd.3_Missense_Mutation_p.L542F	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	542	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GACCGAAGGAGGGGGTGCTGG	0.537													A	57432332	G	A	57432332	3	1	55	1	0	0	0	0	1	0	0	0	10144	1000	35	2	1555	2	MYO1A	12	57432332	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	4224303	57432332	76419563	55	3418											
C12orf66	144577	broad.mit.edu	37	chr12	64588399	64588399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggacgtcaacttccagctgGaaactgctttccaaaggact	12	9	9	11	1	1	0	1	0	0	0	3	3	3	3	2	3	4	2	2	3	3	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:64588399G>A	uc001srw.4	-	2	620	c.561C>T	c.(559-561)ttC>ttT	p.F187F		NM_152440	NP_689653	Q96MD2	CL066_HUMAN	Homo sapiens chromosome 12 open reading frame 66 (C12orf66), mRNA.	187										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						CTTCCAGCTGGAAACTGCTTT	0.478													A	64588399	G	A	64588399	2	1	55	1	0	0	0	0	0	0	0	1	1722	1165	41	2		2	C12orf66	12	64588399	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08	7156067	64588399	69263496	56	3419											
KSR2	283455	broad.mit.edu	37	chr12	118016952	118016952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacacttgaggccaaaaaGcatccctttcccacagactg	12	10	6	13	0	0	2	0	1	0	1	2	2	2	2	3	1	2	1	3	1	3	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:118016952G>A	uc001two.2	-	6	1265	c.1210C>T	c.(1210-1212)Ctt>Ttt	p.L404F		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	433					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.L465F(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGCCAAAAAGCATCCCTTTC	0.478													A	118016952	G	A	118016952	3	1	55	1	0	0	0	0	1	0	0	0	8641	971	34	2	1611	2	KSR2	12	118016952	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	53428553	118016952	15834943	57	3420											
CCDC60	160777	broad.mit.edu	37	chr12	119866567	119866567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaccttatacgaagccGgtgagtgagcccagcaggga	13	5	14	9	2	0	2	0	2	0	0	0	5	0	4	3	3	4	1	3	3	4	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:119866567G>A	uc001txe.3	+	2	635	c.170_splice	c.e2+1	p.R57_splice	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	57										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		ATACGAAGCCGGTGAGTGAGC	0.502													A	119866567	G	A	119866567	3	1	55	1	0	0	0	0	1	0	0	0	2859	1130	39	1	176	1	CCDC60	12	119866567	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	1849615	119866567	13985328	58	3421											
GPR133	283383	broad.mit.edu	37	chr12	131487816	131487816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacggcagcacgccccaGgtcaccgtggagggctcctc	6	5	13	17	3	1	0	1	0	0	0	3	1	2	1	4	4	2	4	4	4	0	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr12:131487816G>T	uc010tbm.2	+	10	1768	c.1209G>T	c.(1207-1209)caG>caT	p.Q403H	GPR133_uc001uit.4_Missense_Mutation_p.Q371H	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	371					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCACGCCCCAGGTCACCGTGG	0.617													T	131487816	G	T	131487816	3	4	55	1	0	0	0	0	1	0	0	0	6697	991	35	4	1151	4	GPR133	12	131487816	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	11621249	131487816	2364079	59	3422											
DCLK1	9201	broad.mit.edu	37	chr13	36428681	36428681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgggtgatgggcttggCgacttgcctgagcgcggagt	4	10	19	8	3	0	2	0	2	0	0	0	4	0	3	1	5	2	1	1	5	0	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:36428681C>T	uc001uvf.3	-	5	1273	c.990G>A	c.(988-990)tcG>tcA	p.S330S	MAB21L1_uc001uvc.3_Intron|DCLK1_uc001uve.4_Silent_p.S23S|DCLK1_uc010teh.2_Silent_p.S23S|DCLK1_uc010abk.3_Silent_p.S23S|DCLK1_uc001uvh.4_Silent_p.S23S	NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	330	Pro/Ser-rich.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity	p.S330S(3)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ATGGGCTTGGCGACTTGCCTG	0.493													T	36428681	C	T	36428681	2	4	55	1	0	0	0	0	0	0	0	1	4325	755	27	1		1	DCLK1	13	36428681	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08		36428681	78741197	60	3423											
GRK1	6011	broad.mit.edu	37	chr13	114321752	114321752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaactctgccttcatcgcCgcccgaggcagctttgacgg	6	8	11	16	4	2	1	1	1	1	0	3	2	2	1	4	2	3	2	4	2	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr13:114321752C>T	uc010tkf.2	+	0	156	c.51C>T	c.(49-51)gcC>gcT	p.A17A		NM_002929	NP_002920	Q15835	RK_HUMAN	Homo sapiens G protein-coupled receptor kinase 1 (GRK1), mRNA.	17	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CCTTCATCGCCGCCCGAGGCA	0.647													T	114321752	C	T	114321752	2	4	55	1	0	0	0	0	0	0	0	1	6845	639	23	1		1	GRK1	13	114321752	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	77893071	114321752	848126	61	3424											
SCFD1	23256	broad.mit.edu	37	chr14	31139520	31139520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagtggaaaactctccagCtggtgctagaccaaagagaa	15	6	12	8	0	1	2	0	0	1	2	2	5	1	4	2	3	3	2	2	3	5	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:31139520C>G	uc001wqm.1	+	10	938	c.914C>G	c.(913-915)gCt>gGt	p.A305G	SCFD1_uc001wqn.1_Missense_Mutation_p.A238G|SCFD1_uc010tpg.1_Missense_Mutation_p.A246G|SCFD1_uc010tph.1_Missense_Mutation_p.A120G|SCFD1_uc010amf.1_Missense_Mutation_p.A120G|SCFD1_uc010tpi.1_Missense_Mutation_p.A213G|SCFD1_uc010amd.1_Missense_Mutation_p.A137G	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	305					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		AACTCTCCAGCTGGTGCTAGA	0.328													G	31139520	C	G	31139520	3	3	55	1	0	0	0	0	1	0	0	0	13981	797	28	4	956	4	SCFD1	14	31139520	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		31139520	76210020	62	3425											
FANCM	57697	broad.mit.edu	37	chr14	45665510	45665510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtattcttgtaggtggtcatGaaatcacttctggattagaa	11	15	10	5	0	4	2	2	1	2	1	4	3	4	3	0	3	0	2	0	3	5	6			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:45665510G>A	uc001wwd.4	+	20	5575	c.5476G>A	c.(5476-5478)Gaa>Aaa	p.E1826K	FANCM_uc010anf.3_Missense_Mutation_p.E1800K|FANCM_uc001wwe.4_Missense_Mutation_p.E1362K|FANCM_uc010ang.3_Missense_Mutation_p.E1075K	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	1826	Interaction with FAAP24 and EME1.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AGGTGGTCATGAAATCACTTC	0.418								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45665510	G	A	45665510	3	1	55	1	0	0	0	0	1	0	0	0	5720	1291	45	2	5558	2	FANCM	14	45665510	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	14525990	45665510	61684030	63	3426											
ESR2	2100	broad.mit.edu	37	chr14	64727172	64727172	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagaaagccctaccgggaAtcttcttggcccagctgatc	9	8	10	14	1	2	2	0	1	2	1	3	3	2	3	4	2	3	1	4	2	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:64727172A>T	uc001xha.1	-	4	1415	c.947T>A	c.(946-948)aTt>aAt	p.I316N	ESR2_uc001xgy.2_Missense_Mutation_p.I316N|ESR2_uc001xgu.3_Missense_Mutation_p.I316N|ESR2_uc001xgv.3_Missense_Mutation_p.I316N|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.I316N|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.I316N|ESR2_uc001xgz.2_Missense_Mutation_p.I316N|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	316	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	CCTACCGGGAATCTTCTTGGC	0.532													T	64727172	A	T	64727172	3	4	55	1	0	0	0	0	1	0	0	0	5298	101	4	5	751	5	ESR2	14	64727172	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	19061662	64727172	42622368	64	3427											
SERPINA6	866	broad.mit.edu	37	chr14	94780400	94780400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatatagttgaccaggaCgaggatggctgggctatcca	12	8	14	7	1	0	2	0	1	0	1	1	6	1	4	2	4	0	3	2	4	4	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:94780400C>T	uc001ycv.3	-	1	690	c.586G>A	c.(586-588)Gtc>Atc	p.V196I	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	196					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TTGACCAGGACGAGGATGGCT	0.502													T	94780400	C	T	94780400	3	4	55	1	0	0	0	0	1	0	0	0	14186	536	19	1	647	1	SERPINA6	14	94780400	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	30053228	94780400	12569140	65	3428											
AHNAK2	113146	broad.mit.edu	37	chr14	105410846	105410846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctggggccgataccctgaAtgacggcatcttgaatttgg	8	10	12	11	2	1	3	0	3	1	0	1	4	1	3	3	4	1	1	3	4	3	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105410846A>G	uc010axc.1	-	6	11062	c.10942T>C	c.(10942-10944)Ttc>Ctc	p.F3648L	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.F3548L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3648						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GATACCCTGAATGACGGCATC	0.592													G	105410846	A	G	105410846	3	3	55	1	0	0	0	0	1	0	0	0	415	101	4	3	6449	3	AHNAK2	14	105410846	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	10630446	105410846	1938694	66	3429											
AHNAK2	113146	broad.mit.edu	37	chr14	105417866	105417866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtccccgtccagctgtgCgccatccaacttggctcccg	5	8	10	18	3	0	0	0	0	0	0	4	0	4	0	6	2	3	2	6	2	1	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr14:105417866C>T	uc010axc.1	-	6	4042	c.3922G>A	c.(3922-3924)Gca>Aca	p.A1308T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1208T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1308						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGCTGTGCGCCATCCAAC	0.597													T	105417866	C	T	105417866	3	4	55	1	0	0	0	0	1	0	0	0	415	768	27	1	13469	1	AHNAK2	14	105417866	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	7020	105417866	1931674	67	3430											
DUOX2	50506	broad.mit.edu	37	chr15	45392270	45392270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcacgatctgcaaacacGccaacacagatggccgagaa	16	4	9	12	3	1	2	0	0	1	2	1	4	1	2	2	1	4	2	2	1	4	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:45392270G>A	uc001zun.3	-	23	3365	c.3162C>T	c.(3160-3162)ggC>ggT	p.G1054G	DUOX2_uc010bea.3_Silent_p.G1054G	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1054	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGCAAACACGCCAACACAGA	0.562													A	45392270	G	A	45392270	2	1	55	1	0	0	0	0	0	0	0	1	4840	1074	38	1		1	DUOX2	15	45392270	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		45392270	57139122	68	3431											
FBXO22	26263	broad.mit.edu	37	chr15	76205599	76205599	+	Frame_Shift_Del	DEL	T	T	-																															ggctgattcagaaactttcaTtagtctggaagagtgtcgtg																										TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:76205599delT	uc002bbk.3	+	2	440	c.335delT	c.(334-336)attfs	p.I112fs	FBXO22_uc002bbj.2_Frame_Shift_Del_p.I112fs|FBXO22_uc002bbl.3_Frame_Shift_Del_p.I8fs	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	112					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GAAACTTTCATTAGTCTGGAA	0.358													-	76205599	T	-	76205599	7	5	55	1	0	1	0	1	0	0	0	0	5783	1493	52	0	345	0	FBXO22	15	76205599	Frame_Shift_Del	DEL	T	TCGA-06-0648-01A-01W-0323-08	30813329	76205599	26325793	69	3432											
SYNM	23336	broad.mit.edu	37	chr15	99670079	99670079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacagaagtgaaagccaCgagggagcaagaaagaaaca	22	1	12	6	1	0	4	0	1	0	3	0	7	0	5	1	1	4	1	1	1	7	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:99670079C>T	uc002bup.3	+	4	1631	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	SYNM_uc002buo.3_Missense_Mutation_p.T504M|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	505	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						GTGAAAGCCACGAGGGAGCAA	0.488													T	99670079	C	T	99670079	3	4	55	1	0	0	0	0	1	0	0	0	15552	536	19	1	1527	1	SYNM	15	99670079	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	23464480	99670079	2861313	70	3433											
LRRK1	79705	broad.mit.edu	37	chr15	101586198	101586198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtttcagctacctcctgccCcatctccttccatctaaacc	7	13	3	18	0	3	0	1	0	2	0	6	0	5	0	7	0	4	2	7	0	3	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr15:101586198C>T	uc002bwr.3	+	20	3295	c.2976C>T	c.(2974-2976)ccC>ccT	p.P992P	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	992					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACCTCCTGCCCCATCTCCTTC	0.592													T	101586198	C	T	101586198	2	4	55	1	0	0	0	0	0	0	0	1	9102	610	22	2		2	LRRK1	15	101586198	Silent	SNP	C	TCGA-06-0648-01A-01W-0323-08	1916119	101586198	945194	71	3434											
SPIRE2	84501	broad.mit.edu	37	chr16	89916966	89916966	+	Frame_Shift_Del	DEL	C	C	-																															tgcgcggcgcggctgaccgaCccccggggcgcacaggcgca																										TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr16:89916966delC	uc002foz.1	+	2	595	c.543delC	c.(541-543)gacfs	p.D181fs	SPIRE2_uc010civ.1_Frame_Shift_Del_p.D96fs|SPIRE2_uc010ciw.1_Frame_Shift_Del_p.D181fs|SPIRE2_uc002fpa.1_Frame_Shift_Del_p.D133fs|SPIRE2_uc010cix.1_Frame_Shift_Del_p.D50fs	NM_032451	NP_115827	Q8WWL2	SPIR2_HUMAN	Homo sapiens spire homolog 2 (Drosophila) (SPIRE2), mRNA.	181	KIND.				transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GGCTGACCGACCCCCGGGGCG	0.751													-	89916966	C	-	89916966	7	5	55	1	0	1	0	1	0	0	0	0	15168	506	18	0	553	0	SPIRE2	16	89916966	Frame_Shift_Del	DEL	C	TCGA-06-0648-01A-01W-0323-08		89916966	437787	72	3435											
OR3A2	4995	broad.mit.edu	37	chr17	3181738	3181738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagtgtgggtcagtgcGttggtgaaggcacaagccaa	10	7	15	9	1	1	1	1	1	0	0	1	1	1	1	2	3	2	2	2	3	3	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:3181738G>A	uc002fvg.3	-	0	531	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	164					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGGTCAGTGCGTTGGTGAAGG	0.582													A	3181738	G	A	3181738	2	1	55	1	0	0	0	0	0	0	0	1	11114	1136	40	1		1	OR3A2	17	3181738	Silent	SNP	G	TCGA-06-0648-01A-01W-0323-08		3181738	78013472	73	3436											
DNAH2	146754	broad.mit.edu	37	chr17	7736507	7736507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcccacgatccacttccGgcctgcagagagccgcaaga	10	5	10	16	3	0	2	0	0	0	2	2	4	2	2	5	1	3	2	5	1	1	1	rs145226741		TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:7736507G>A	uc002giu.1	+	83	13111	c.13097G>A	c.(13096-13098)cGg>cAg	p.R4366Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	4366					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATCCACTTCCGGCCTGCAGAG	0.622													A	7736507	G	A	7736507	3	1	55	1	0	0	0	0	1	0	0	0	4641	1116	39	1	13431	1	DNAH2	17	7736507	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	4554769	7736507	73458703	74	3437											
MLLT6	4302	broad.mit.edu	37	chr17	36873166	36873166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccggcctgggaggtctgtCctcccgaacctttgggcctt	3	11	12	15	2	1	0	0	0	1	0	4	2	4	1	6	4	1	0	6	4	1	2			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:36873166C>T	uc002hqi.4	+	9	1596	c.1583C>T	c.(1582-1584)tCc>tTc	p.S528F	MLLT6_uc002hqj.3_Intron|MLLT6_uc002hqk.4_5'Flank|MIR4726_uc021twg.1_5'Flank	NM_005937	NP_005928	P55198	AF17_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6 (MLLT6), mRNA.	528					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GGAGGTCTGTCCTCCCGAACC	0.637			T	MLL	AL								T	36873166	C	T	36873166	3	4	55	1	0	0	0	0	1	0	0	0	9705	855	30	2	1621	2	MLLT6	17	36873166	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	29136659	36873166	44322044	75	3438											
OR4D2	124538	broad.mit.edu	37	chr17	56247707	56247707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctgaggtcacatccagggGaggcaagaaggaaggcagct	12	5	16	8	0	1	2	1	1	0	1	2	4	2	4	1	6	2	4	1	6	3	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr17:56247707G>A	uc010wnp.2	+	0	691	c.691G>A	c.(691-693)Gag>Aag	p.E231K		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						ACATCCAGGGGAGGCAAGAAG	0.537													A	56247707	G	A	56247707	3	1	55	1	0	0	0	0	1	0	0	0	11132	1175	41	2	693	2	OR4D2	17	56247707	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	19374541	56247707	24947503	76	3439											
LGALS13	29124	broad.mit.edu	37	chr19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatattgccttccgtttcCgagtgcactttggcaatcat	8	14	8	11	2	1	1	1	0	0	1	3	2	3	1	3	1	2	3	3	1	2	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:40095888C>T	uc002omb.3	+	2	203	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	55	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding	p.F54F(1)		lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													T	40095888	C	T	40095888	4	4	55	1	0	0	0	0	0	1	0	0	8799	644	23	1	173	1	LGALS13	19	40095888	Nonsense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		40095888	19033095	77	3440											
CEACAM7	1087	broad.mit.edu	37	chr19	42187746	42187746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtcactgcGgctggcacccactgggttct	5	9	15	12	1	2	1	1	1	1	0	2	1	2	1	1	5	1	3	1	5	0	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:42187746G>A	uc002ori.1	-	2	678	c.676C>T	c.(676-678)Cgc>Tgc	p.R226C	CEACAM7_uc010ehx.2_Missense_Mutation_p.R226C|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	226	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGGTCACTGCGGCTGGCACCC	0.552													A	42187746	G	A	42187746	3	1	55	1	0	0	0	0	1	0	0	0	3227	1116	39	1	129	1	CEACAM7	19	42187746	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	2091858	42187746	16941237	78	3441											
BCAM	4059	broad.mit.edu	37	chr19	45322967	45322967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgctgccgccagcggCgggagaagggggctccgtga	5	4	18	14	4	0	2	0	1	0	1	1	3	1	2	5	4	3	2	5	4	1	0			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:45322967C>T	uc002ozu.3	+	12	1791	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	BCAM_uc002ozt.1_Missense_Mutation_p.R583W	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	583					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CCGCCAGCGGCGGGAGAAGGG	0.642													T	45322967	C	T	45322967	3	4	55	1	0	0	0	0	1	0	0	0	1349	759	27	1	1797	1	BCAM	19	45322967	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08	3135221	45322967	13806016	79	3442											
FPR2	2358	broad.mit.edu	37	chr19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggtggctggattccGgatgacacgcacagtcacca	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	2	4	0	2	2	4	0	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr19:52272072G>A	uc002pxr.3	+	1	206	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	54					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													A	52272072	G	A	52272072	3	1	55	1	0	0	0	0	1	0	0	0	6090	1116	39	1	163	1	FPR2	19	52272072	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08	6949105	52272072	6856911	80	3443											
SPTLC3	55304	broad.mit.edu	37	chr20	13029756	13029756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagaaaaatgcaacgcagCtgtggaaagaaaagaacaaa	23	4	9	5	1	0	3	0	0	0	3	0	4	0	4	0	1	4	3	0	1	10	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:13029756C>A	uc002wod.1	+	1	570	c.281C>A	c.(280-282)gCt>gAt	p.A94D	SPTLC3_uc002woc.3_Missense_Mutation_p.A94D	NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	94					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TGCAACGCAGCTGTGGAAAGA	0.423													A	13029756	C	A	13029756	3	1	55	1	0	0	0	0	1	0	0	0	15221	797	28	4	287	4	SPTLC3	20	13029756	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		13029756	49995764	81	3444											
PLCG1	5335	broad.mit.edu	37	chr20	39788360	39788360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattgctttgtcattctctAtggaatggaatttcgcctga	9	16	8	8	1	2	1	1	1	1	0	4	3	2	3	1	2	1	1	1	2	3	5			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr20:39788360A>G	uc002xjp.1	+	1	453	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	PLCG1_uc002xjo.1_Missense_Mutation_p.Y111C	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	111	PH 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GTCATTCTCTATGGAATGGAA	0.537													G	39788360	A	G	39788360	3	3	55	1	0	0	0	0	1	0	0	0	12112	449	16	3	338	3	PLCG1	20	39788360	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	26758604	39788360	23237160	82	3445											
RRP1B	23076	broad.mit.edu	37	chr21	45107441	45107441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaggacagtgaaagcagtCttcaaaagagaagaaggaag	20	4	13	4	0	2	4	1	1	1	3	2	7	2	6	0	2	1	1	0	2	7	1			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr21:45107441C>T	uc002zdk.3	+	12	1300	c.1186C>T	c.(1186-1188)Ctt>Ttt	p.L396F	RRP1B_uc002zdl.3_5'UTR	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	396					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		TGAAAGCAGTCTTCAAAAGAG	0.532													T	45107441	C	T	45107441	3	4	55	1	0	0	0	0	1	0	0	0	13779	913	32	2	1236	2	RRP1B	21	45107441	Missense_Mutation	SNP	C	TCGA-06-0648-01A-01W-0323-08		45107441	3022454	83	3446											
CABIN1	23523	broad.mit.edu	37	chr22	24487684	24487684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcagccacccaccGtttacttgctgcactacagg	10	7	9	15	1	0	0	0	0	0	0	0	0	0	0	3	1	8	6	3	1	2	4			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chr22:24487684G>A	uc002zzi.1	+	23	3800	c.3673G>A	c.(3673-3675)Gtt>Att	p.V1225I	CABIN1_uc021wnc.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1175I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1225I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1225					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCCACCCACCGTTTACTTGCT	0.612													A	24487684	G	A	24487684	3	1	55	1	0	0	0	0	1	0	0	0	2554	1145	40	1	3763	1	CABIN1	22	24487684	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		24487684	26816882	84	3447											
SHOX	6473	broad.mit.edu	37	chrX	591909	591909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgcgagagtggcagaaGgtaagttcctttgcgctccg	8	8	14	11	4	0	2	0	0	0	2	2	3	2	2	3	2	1	5	3	2	2	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:591909G>A	uc004cph.1	+	2	968	c.277_splice	c.e2+1	p.G93_splice	SHOX_uc004cpi.3_Splice_Site_p.G93_splice	NM_000451	NP_000442	O15266	SHOX_HUMAN	Homo sapiens short stature homeobox (SHOX), transcript variant 1, mRNA.	93					skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(9)|prostate(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGTGGCAGAAGGTAAGTTCCT	0.647													A	591909	G	A	591909	3	1	55	1	0	0	0	0	1	0	0	0	14382	1014	35	2	279	2	SHOX	23	591909	Missense_Mutation	SNP	G	TCGA-06-0648-01A-01W-0323-08		591909	154678651	85	3448											
FOXR2	139628	broad.mit.edu	37	chrX	55650926	55650926	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagccttaaggatgaagAtaatgcaagacctcgctctt	14	9	9	9	1	1	4	0	1	1	3	2	5	1	5	2	1	2	2	2	1	4	3			TCGA-06-0648-01A-01W-0323-08	TCGA-06-0648-10A-01W-0323-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33f8304e-11c3-4a9d-ad21-ffea555309dc	7a88c445-24c5-4dfd-9064-de5dc2a47b41	g.chrX:55650926A>C	uc004duo.3	+	0	1094	c.782A>C	c.(781-783)gAt>gCt	p.D261A		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	261					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AAGGATGAAGATAATGCAAGA	0.517													C	55650926	A	C	55650926	3	2	55	1	0	0	0	0	1	0	0	0	6083	333	12	5	784	5	FOXR2	23	55650926	Missense_Mutation	SNP	A	TCGA-06-0648-01A-01W-0323-08	55059017	55650926	99619634	86	3449											
TMEM52	339456	broad.mit.edu	37	chr1	1849551	1849551	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccaggtccagctcccCaaagggcaggggcaaccgca	10	3	14	14	1	0	0	0	0	0	0	3	1	3	1	5	5	2	4	5	5	2	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:1849551C>A	uc001aij.2	-	4	436	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	TMEM52_uc001aii.2_Missense_Mutation_p.G119W	NM_178545	NP_848640	Q8NDY8	TMM52_HUMAN	Homo sapiens transmembrane protein 52 (TMEM52), mRNA.	134						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TCCAGCTCCCCAAAGGGCAGG	0.637													A	1849551	C	A	1849551	3	1	56	1	0	0	0	0	1	0	0	0	16278	594	21	4	233	4	TMEM52	1	1849551	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		1849551	247401070	1	3450											
ESPN	83715	broad.mit.edu	37	chr1	6517297	6517297	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgcctggaggcgggacctCctgcggaagaagctggaaga	9	4	16	12	3	0	2	0	0	0	2	1	6	1	6	4	5	2	1	4	5	3	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:6517297C>T	uc001amy.3	+	10	2547	c.2379C>T	c.(2377-2379)ctC>ctT	p.L793L	ESPN_uc001amz.3_Silent_p.L227L	NM_031475	NP_113663	B1AK53	ESPN_HUMAN	Homo sapiens espin (ESPN), mRNA.	793	Glu-rich.				sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		GGCGGGACCTCCTGCGGAAGA	0.642													T	6517297	C	T	6517297	2	4	56	1	0	0	0	0	0	0	0	1	5295	842	30	2		2	ESPN	1	6517297	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	4667746	6517297	242733324	2	3451											
PRAMEF6	343068	broad.mit.edu	37	chr1	13366388	13366388	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagctttctatgaactctGtttctttcctcgaaggccac	10	14	6	11	1	3	1	0	1	3	0	5	2	4	1	2	1	2	2	2	1	5	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:13366388G>C	uc001auu.1	+	2	932	c.832G>C	c.(832-834)Gtt>Ctt	p.V278L		NM_001010889	NP_001013425	Q5VXH4	PRAM6_HUMAN	Homo sapiens PRAME family member 6 (PRAMEF6), mRNA.	278										NS(1)|kidney(1)|lung(5)|urinary_tract(2)	9	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TATGAACTCTGTTTCTTTCCT	0.522													C	13366388	G	C	13366388	3	2	56	1	0	0	0	0	1	0	0	0	12523	1377	48	4	2281	4	PRAMEF6	1	13366388	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	6849091	13366388	235884233	3	3452											
ZNF683	257101	broad.mit.edu	37	chr1	26691247	26691247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaggcagagcttggcCagaggcttggaaggcccctg	8	6	17	10	0	0	2	0	0	0	2	0	4	0	4	3	6	1	3	3	6	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:26691247C>T	uc001bmg.1	-	3	908	c.790G>A	c.(790-792)Ggc>Agc	p.G264S	ZNF683_uc001bmh.1_Missense_Mutation_p.G264S|ZNF683_uc009vsj.1_Missense_Mutation_p.G264S	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		AGAGCTTGGCCAGAGGCTTGG	0.647													T	26691247	C	T	26691247	3	4	56	1	0	0	0	0	1	0	0	0	18191	594	21	2	736	2	ZNF683	1	26691247	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	13324859	26691247	222559374	4	3453											
KPNA6	23633	broad.mit.edu	37	chr1	32620313	32620317	+	Frame_Shift_Del	DEL	AGAGC	AGAGC	-																															cagctccggaagcagaagcgAgagcaacaagtgagttaatg																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:32620313_32620317delAGAGC	uc010ogy.2	+	1	171_175	c.144_148delAGAGC	c.(142-150)cgagagcaafs	p.R48fs	KPNA6_uc001bug.3_Frame_Shift_Del_p.R43fs|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Frame_Shift_Del_p.R40fs	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	43	IBB.				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AGCAGAAGCGAGAGCAACAAGTGAG	0.454													-	32620317	AGAGC	-	32620313	7	5	56	1	0	1	0	1	0	0	0	0	8492	291	11	0	135	0	KPNA6	1	32620313	Frame_Shift_Del	DEL	AGAGC	TCGA-06-0649-01B-01W-0348-08	5929066	32620313	216630308	5	3454											
CSMD2	114784	broad.mit.edu	37	chr1	34209005	34209005	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaaggtgcccaggacGggcgcctcggcggtggcccc	5	4	17	15	4	0	1	0	1	0	1	1	3	0	2	5	6	1	0	5	6	1	0	rs141295499		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:34209005G>A	uc001bxm.1	-	13	2226	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	CSMD2_uc001bxn.1_Silent_p.P643P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	643	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCCCAGGACGGGCGCCTCGG	0.612													A	34209005	G	A	34209005	2	1	56	1	0	0	0	0	0	0	0	1	3978	1103	39	1		1	CSMD2	1	34209005	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	1588692	34209005	215041616	6	3455											
PTCH2	8643	broad.mit.edu	37	chr1	45307671	45307671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcaggccctggaagtaaGcacgaagccagagtggagcc	13	3	15	10	1	0	2	0	0	0	2	0	5	0	4	3	3	4	3	3	3	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:45307671G>C	uc010olf.2	-	1	125	c.113C>G	c.(112-114)gCt>gGt	p.A38G	PTCH2_uc021omv.1_Missense_Mutation_p.A38G|PTCH2_uc010olg.2_5'UTR	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	38					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CTGGAAGTAAGCACGAAGCCA	0.552									Basal Cell Nevus syndrome				C	45307671	G	C	45307671	3	2	56	1	0	0	0	0	1	0	0	0	12816	971	34	4	3602	4	PTCH2	1	45307671	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	11098666	45307671	203942950	7	3456											
TCHH	7062	broad.mit.edu	37	chr1	152081057	152081057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgacgccgctgttgccCgcgctcctggcggcgcagct	2	8	14	17	6	0	1	0	1	0	0	2	1	2	1	4	2	2	5	4	2	0	1	rs71585886		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:152081057C>T	uc009wne.1	-	2	4908	c.4636G>A	c.(4636-4638)Ggg>Agg	p.G1546R	TCHH_uc001ezp.2_Missense_Mutation_p.G1546R	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1546	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGCTGTTGCCCGCGCTCCTGG	0.617													T	152081057	C	T	152081057	3	4	56	1	0	0	0	0	1	0	0	0	15800	652	23	1	1199	1	TCHH	1	152081057	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	106773386	152081057	97169564	8	3457											
SLAMF8	56833	broad.mit.edu	37	chr1	159802791	159802791	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaataacctatagctggCgacgggagacaaccatggac	14	5	12	10	3	0	1	0	0	0	1	0	5	0	2	2	3	3	1	2	3	5	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:159802791C>T	uc001fue.4	+	2	703	c.493C>T	c.(493-495)Cga>Tga	p.R165*		NM_020125	NP_064510	Q9P0V8	SLAF8_HUMAN	Homo sapiens SLAM family member 8 (SLAMF8), mRNA.	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					CTATAGCTGGCGACGGGAGAC	0.537													T	159802791	C	T	159802791	4	4	56	1	0	0	0	0	0	1	0	0	14464	760	27	1	503	1	SLAMF8	1	159802791	Nonsense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	7721734	159802791	89447830	9	3458											
SOAT1	6646	broad.mit.edu	37	chr1	179310266	179310266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacattttcagttccctatTttctgtttcaacattgggcc	7	18	5	11	0	3	0	2	0	1	0	4	0	4	0	2	1	2	2	2	1	3	9			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:179310266T>G	uc001gml.3	+	6	832	c.601T>G	c.(601-603)Ttt>Gtt	p.F201V	SOAT1_uc010pni.2_Missense_Mutation_p.F136V|SOAT1_uc001gmm.3_Missense_Mutation_p.F143V|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.F136V	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	201					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	AGTTCCCTATTTTCTGTTTCA	0.448													G	179310266	T	G	179310266	3	3	56	1	0	0	0	0	1	0	0	0	15004	1841	64	5	623	5	SOAT1	1	179310266	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	19507475	179310266	69940355	10	3459											
HMCN1	83872	broad.mit.edu	37	chr1	186088926	186088926	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactacacgtcattctgaaCaatcctattttattaccatg	13	14	4	10	1	2	1	1	1	1	0	3	2	3	1	2	0	4	0	2	0	7	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:186088926C>T	uc001grq.1	+	78	12235	c.12006C>T	c.(12004-12006)aaC>aaT	p.N4002N	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4002	Ig-like C2-type 39.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCATTCTGAACAATCCTATTT	0.388													T	186088926	C	T	186088926	2	4	56	1	0	0	0	0	0	0	0	1	7275	477	17	2		2	HMCN1	1	186088926	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	6778660	186088926	63161695	11	3460											
LBR	3930	broad.mit.edu	37	chr1	225598033	225598033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacatagagaagctggaaaCtattaactaaaatcatggcc	17	8	7	9	0	1	1	1	0	0	1	1	3	1	2	2	2	3	1	2	2	7	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr1:225598033C>T	uc001hoy.3	-	9	1448	c.1274G>A	c.(1273-1275)aGt>aAt	p.S425N	LBR_uc001hoz.3_Missense_Mutation_p.S425N	NM_002296	NP_919424	Q14739	LBR_HUMAN	Homo sapiens lamin B receptor (LBR), transcript variant 1, mRNA.	425					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		AAGCTGGAAACTATTAACTAA	0.443													T	225598033	C	T	225598033	3	4	56	1	0	0	0	0	1	0	0	0	8711	565	20	2	593	2	LBR	1	225598033	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	39509107	225598033	23652588	12	3461											
CRIM1	51232	broad.mit.edu	37	chr2	36740894	36740894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaccctggacagtgctGcccatcatgtgcaggtaaaa	11	9	9	12	0	2	0	2	0	0	0	2	1	2	1	2	2	3	3	2	2	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:36740894G>A	uc002rpd.3	+	10	2042	c.1976G>A	c.(1975-1977)tGc>tAc	p.C659Y		NM_016441	NP_057525	Q9NZV1	CRIM1_HUMAN	Homo sapiens cysteine rich transmembrane BMP regulator 1 (chordin-like) (CRIM1), mRNA.	659	VWFC 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GGACAGTGCTGCCCATCATGT	0.562													A	36740894	G	A	36740894	3	1	56	1	0	0	0	0	1	0	0	0	3904	1319	46	2	2018	2	CRIM1	2	36740894	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		36740894	206458479	13	3462											
ZNF638	27332	broad.mit.edu	37	chr2	71592818	71592818	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggtgtctgataaagcTgtttctctccagcgaaaggt	12	11	10	8	1	2	1	0	1	2	0	4	2	3	1	1	2	3	2	1	2	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:71592818T>G	uc002shx.3	+	5	2300	c.1977T>G	c.(1975-1977)gcT>gcG	p.A659A	ZNF638_uc010fec.2_Silent_p.A765A|ZNF638_uc010yqw.1_Silent_p.A238A|ZNF638_uc002shw.3_Silent_p.A659A|ZNF638_uc002shz.3_Silent_p.A659A|ZNF638_uc002shy.3_Silent_p.A659A|ZNF638_uc002sia.3_Silent_p.A659A|ZNF638_uc002sib.1_Silent_p.A659A	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	659					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CTGATAAAGCTGTTTCTCTCC	0.363													G	71592818	T	G	71592818	2	3	56	1	0	0	0	0	0	0	0	1	18156	1567	55	5		5	ZNF638	2	71592818	Silent	SNP	T	TCGA-06-0649-01B-01W-0348-08	34851924	71592818	171606555	14	3463											
SLC9A2	6549	broad.mit.edu	37	chr2	103324656	103324656	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagccaggcgcttcttgcCagaacagttctccaagaaat	12	8	9	12	1	2	3	0	0	2	3	3	3	2	3	3	1	3	2	3	1	3	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:103324656C>A	uc002tca.3	+	11	2289	c.2147C>A	c.(2146-2148)cCa>cAa	p.P716Q		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	716						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CGCTTCTTGCCAGAACAGTTC	0.527													A	103324656	C	A	103324656	3	1	56	1	0	0	0	0	1	0	0	0	14806	594	21	4	2193	4	SLC9A2	2	103324656	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	31731838	103324656	139874717	15	3464											
UGGT1	56886	broad.mit.edu	37	chr2	128867271	128867271	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtgcatggaaagaagActtgtgaatctgataccctt	12	13	9	7	0	2	4	1	2	1	2	2	5	2	5	1	1	2	1	1	1	4	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:128867271A>G	uc002tps.3	+	4	650	c.472A>G	c.(472-474)Act>Gct	p.T158A	UGGT1_uc010fme.1_Missense_Mutation_p.T33A|UGGT1_uc002tpr.3_Missense_Mutation_p.T134A	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	158					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TGGAAAGAAGACTTGTGAATC	0.388													G	128867271	A	G	128867271	3	3	56	1	0	0	0	0	1	0	0	0	17043	275	10	3	490	3	UGGT1	2	128867271	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	25542615	128867271	114332102	16	3465											
TTN	7273	broad.mit.edu	37	chr2	179641950	179641950	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagggttggggttaccCgtagctctgactttcatttc	6	15	11	9	1	3	1	2	1	1	0	4	1	3	1	1	3	2	4	1	3	2	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:179641950C>A	uc021vsy.1	-	26	4965	c.4740G>T	c.(4738-4740)acG>acT	p.T1580T	TTN_uc021vsz.1_Silent_p.T1534T|TTN_uc021vta.1_Silent_p.T1534T|TTN_uc021vtb.1_Silent_p.T1534T|TTN_uc002unb.2_Silent_p.T1580T|AK123298_uc002unc.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1580	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T1580T(3)|p.T1534T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGGTTACCCGTAGCTCTGA	0.373													A	179641950	C	A	179641950	2	1	56	1	0	0	0	0	0	0	0	1	16837	639	23	4		4	TTN	2	179641950	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	50774679	179641950	63557423	17	3466											
PTH2R	5746	broad.mit.edu	37	chr2	209308179	209308179	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtagtccatgctcacataGgagtaaaggagctggagtcc	12	8	13	8	0	1	0	1	0	0	0	3	4	3	3	2	3	2	4	2	3	4	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:209308179G>C	uc010zjb.2	+	5	935	c.649G>C	c.(649-651)Gga>Cga	p.G217R	PTH2R_uc002vdb.3_Missense_Mutation_p.G206R	NM_005048	NP_005039	P49190	PTH2R_HUMAN	Homo sapiens parathyroid hormone 2 receptor (PTH2R), mRNA.	206						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		TGCTCACATAGGAGTAAAGGA	0.413													C	209308179	G	C	209308179	3	2	56	1	0	0	0	0	1	0	0	0	12846	1001	35	4	638	4	PTH2R	2	209308179	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	29666229	209308179	33891194	18	3467											
TRPM8	79054	broad.mit.edu	37	chr2	234869493	234869493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtccgcctctttctggAgaatggcttgaacctacgga	7	13	11	10	2	2	2	0	1	2	1	3	4	3	3	3	3	2	2	3	3	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:234869493A>G	uc002vvh.3	+	11	1476	c.1436A>G	c.(1435-1437)gAg>gGg	p.E479G	TRPM8_uc010fyj.3_Missense_Mutation_p.E167G	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	479						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CTCTTTCTGGAGAATGGCTTG	0.483													G	234869493	A	G	234869493	3	3	56	1	0	0	0	0	1	0	0	0	16693	304	11	3	1478	3	TRPM8	2	234869493	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	25561314	234869493	8329880	19	3468											
COL6A3	1293	broad.mit.edu	37	chr2	238283454	238283454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggtcagctggcggacagCgttgacgacgtcctgcttgt	6	9	15	11	4	1	1	1	1	0	0	2	3	2	2	1	3	3	3	1	3	0	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr2:238283454C>T	uc002vwl.2	-	7	3565	c.3280G>A	c.(3280-3282)Gct>Act	p.A1094T	COL6A3_uc002vwo.2_Missense_Mutation_p.A888T|COL6A3_uc010znj.1_Missense_Mutation_p.A487T|COL6A3_uc002vwq.3_Missense_Mutation_p.A888T|COL6A3_uc002vwr.3_Missense_Mutation_p.A687T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1094	Nonhelical region.|VWFA 6.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGGCGGACAGCGTTGACGACG	0.652													T	238283454	C	T	238283454	3	4	56	1	0	0	0	0	1	0	0	0	3732	768	27	1	6448	1	COL6A3	2	238283454	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	3413961	238283454	4915919	20	3469											
TGFBR2	7048	broad.mit.edu	37	chr3	30691812	30691812	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacagtttgccatgaccccaAgctcccctaccatgacttta	10	10	6	15	0	0	2	0	2	0	0	1	3	1	2	6	0	3	2	6	0	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:30691812A>T	uc003ceo.3	+	2	696	c.314A>T	c.(313-315)aAg>aTg	p.K105M	TGFBR2_uc021wut.1_5'UTR|TGFBR2_uc003cen.3_Missense_Mutation_p.K130M	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	105					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						CATGACCCCAAGCTCCCCTAC	0.443													T	30691812	A	T	30691812	3	4	56	1	0	0	0	0	1	0	0	0	15922	72	3	5	403	5	TGFBR2	3	30691812	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08		30691812	167330618	21	3470											
KBTBD5	131377	broad.mit.edu	37	chr3	42729720	42729720	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagaagctctcaactcCatctacgtggtcggtggcag	8	9	13	11	2	2	1	1	0	2	1	5	2	3	1	1	4	3	2	1	4	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:42729720C>T	uc003clv.1	+	1	1339	c.1239C>T	c.(1237-1239)tcC>tcT	p.S413S		NM_152393	NP_689606	Q2TBA0	KBTB5_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 5 (KBTBD5), mRNA.	413										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				KIRC - Kidney renal clear cell carcinoma(284;0.214)		CTCTCAACTCCATCTACGTGG	0.637													T	42729720	C	T	42729720	2	4	56	1	0	0	0	0	0	0	0	1	8054	581	21	2		2	KBTBD5	3	42729720	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	12037908	42729720	155292710	22	3471											
MORC1	27136	broad.mit.edu	37	chr3	108819325	108819325	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagccgttttttggatcGtccaaagtaaatgatgtctg	10	14	10	7	2	1	2	0	2	1	0	3	3	2	3	2	1	1	2	2	1	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:108819325G>T	uc003dxl.3	-	4	340	c.253C>A	c.(253-255)Cga>Aga	p.R85R	MORC1_uc011bhn.2_Silent_p.R85R	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	85					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTTTTGGATCGTCCAAAGTAA	0.408													T	108819325	G	T	108819325	2	4	56	1	0	0	0	0	0	0	0	1	9777	1153	40	4		4	MORC1	3	108819325	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	66089605	108819325	89203105	23	3472											
RFC4	5984	broad.mit.edu	37	chr3	186508171	186508173	+	In_Frame_Del	DEL	CAT	CAT	-																															ctgacaggcagcaaatactcCatcaattttctcagctggta																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr3:186508171_186508173delCAT	uc003fqz.3	-	8	1047_1049	c.824_826delATG	c.(823-828)gatgga>gga	p.D275del	RFC4_uc011bsc.2_In_Frame_Del_p.D275del	NM_002916	NP_853551	P35249	RFC4_HUMAN	Homo sapiens replication factor C (activator 1) 4, 37kDa (RFC4), transcript variant 1, mRNA.	275					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.D275G(2)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		GCAAATACTCCATCAATTTTCTC	0.424													-	186508173	CAT	-	186508171	7	5	56	1	0	1	0	1	0	0	0	0	13335	603	21	0	277	0	RFC4	3	186508171	In_Frame_Del	DEL	CAT	TCGA-06-0649-01B-01W-0348-08	77688846	186508171	11514259	24	3473											
FBXL5	26234	broad.mit.edu	37	chr4	15632339	15632339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatgaaaagcacgacttTcatctttcctatttttcacc	11	15	3	12	1	4	1	3	1	1	0	5	2	5	1	2	0	1	1	2	0	3	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:15632339T>G	uc003goc.2	-	5	967	c.842A>C	c.(841-843)gAa>gCa	p.E281A	FBXL5_uc010idw.2_Missense_Mutation_p.E194A|FBXL5_uc003gob.2_Missense_Mutation_p.E143A|FBXL5_uc010idx.2_Missense_Mutation_p.E280A|FBXL5_uc003god.2_Missense_Mutation_p.E264A|FBXL5_uc010idy.2_Missense_Mutation_p.E281A	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	281					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AGCACGACTTTCATCTTTCCT	0.343													G	15632339	T	G	15632339	3	3	56	1	0	0	0	0	1	0	0	0	5771	1783	62	5	1257	5	FBXL5	4	15632339	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		15632339	175521937	25	3474											
CLOCK	9575	broad.mit.edu	37	chr4	56336906	56336906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaatgttcaagtaatgaaGttacactctcagacacatat	16	12	6	7	0	2	2	2	1	1	1	3	2	2	2	0	0	1	4	0	0	7	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:56336906G>T	uc003haz.1	-	8	1342	c.416C>A	c.(415-417)aCt>aAt	p.T139N	CLOCK_uc003hba.1_Missense_Mutation_p.T139N	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	139	PAS 1.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			AAGTAATGAAGTTACACTCTC	0.299													T	56336906	G	T	56336906	3	4	56	1	0	0	0	0	1	0	0	0	3580	1029	36	4	2188	4	CLOCK	4	56336906	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	40704567	56336906	134817370	26	3475											
UGT2B7	7364	broad.mit.edu	37	chr4	69962642	69962642	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtagtttcaaataagaAatttatgaaaaaagtacaag	21	11	7	2	0	1	3	1	1	0	2	1	3	1	3	0	0	1	3	0	0	10	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:69962642A>T	uc003heg.4	+	0	450	c.404A>T	c.(403-405)aAa>aTa	p.K135I	UGT2B7_uc010ihq.3_Missense_Mutation_p.K135I	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	135					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCAAATAAGAAATTTATGAAA	0.313													T	69962642	A	T	69962642	3	4	56	1	0	0	0	0	1	0	0	0	17064	14	1	5	406	5	UGT2B7	4	69962642	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	13625736	69962642	121191634	27	3476											
UGT2B4	7363	broad.mit.edu	37	chr4	70351106	70351106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcctcatagatgccattgGctccaccatgagttataaaa	12	12	7	10	0	1	2	1	1	0	1	2	2	2	2	4	1	2	2	4	1	4	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:70351106G>T	uc003hek.4	-	4	1177	c.1130C>A	c.(1129-1131)gCc>gAc	p.A377D	UGT2B4_uc011cap.2_Missense_Mutation_p.A241D|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	377					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						GATGCCATTGGCTCCACCATG	0.413													T	70351106	G	T	70351106	3	4	56	1	0	0	0	0	1	0	0	0	17063	1203	42	4	464	4	UGT2B4	4	70351106	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	388464	70351106	120803170	28	3477											
ANK2	287	broad.mit.edu	37	chr4	114274747	114274747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagagcagctgcagacagTtcaagataaggcagggaaga	17	4	13	7	0	1	4	1	0	0	4	1	5	1	5	0	2	3	5	0	2	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr4:114274747T>C	uc003ibe.4	+	37	5073	c.4973T>C	c.(4972-4974)gTt>gCt	p.V1658A	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.V1673A	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1625					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGCAGACAGTTCAAGATAAG	0.473													C	114274747	T	C	114274747	3	2	56	1	0	0	0	0	1	0	0	0	621	1725	60	3	5188	3	ANK2	4	114274747	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	43923641	114274747	76879529	29	3478											
CTNND2	1501	broad.mit.edu	37	chr5	11236806	11236806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaaggagcactgacctcGgctttaattttgttgtctcc	8	14	8	11	1	1	1	0	1	1	0	4	2	2	2	3	2	1	3	3	2	2	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:11236806G>A	uc003jfa.1	-	9	1903	c.1758C>T	c.(1756-1758)gcC>gcT	p.A586A	CTNND2_uc010itt.2_Silent_p.A495A|CTNND2_uc011cmy.1_Silent_p.A249A|CTNND2_uc011cmz.1_Silent_p.A153A|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Silent_p.A153A	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	586					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	p.A586T(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CACTGACCTCGGCTTTAATTT	0.443													A	11236806	G	A	11236806	2	1	56	1	0	0	0	0	0	0	0	1	4053	1103	39	1		1	CTNND2	5	11236806	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08		11236806	169678454	30	3479											
SLIT3	6586	broad.mit.edu	37	chr5	168098222	168098222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgtggccgaggcaggggtCccgggcctcctgatcgcaga	5	6	16	14	3	0	2	0	1	0	1	3	3	2	2	5	5	0	2	5	5	0	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr5:168098222C>T	uc010jjg.3	-	33	4549	c.4129G>A	c.(4129-4131)Gac>Aac	p.D1377N	SLIT3_uc003mab.3_Missense_Mutation_p.D1370N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1370	EGF-like 8.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGCAGGGGTCCCGGGCCTCC	0.672													T	168098222	C	T	168098222	3	4	56	1	0	0	0	0	1	0	0	0	14835	855	30	2	475	2	SLIT3	5	168098222	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	156861416	168098222	12817038	31	3480											
KIF13A	63971	broad.mit.edu	37	chr6	17826293	17826293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagtgattatttccccatAggattcggtcaccatgccac	12	11	7	11	1	1	1	1	1	0	0	3	2	2	2	4	2	1	0	4	2	4	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:17826293A>G	uc003ncg.4	-	14	1755	c.1595T>C	c.(1594-1596)cTa>cCa	p.L532P	KIF13A_uc003ncf.3_Missense_Mutation_p.L532P|KIF13A_uc003nch.4_Missense_Mutation_p.L532P|KIF13A_uc003nci.4_Missense_Mutation_p.L532P|KIF13A_uc003ncj.3_Missense_Mutation_p.L208P	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	532					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ATTTCCCCATAGGATTCGGTC	0.398													G	17826293	A	G	17826293	3	3	56	1	0	0	0	0	1	0	0	0	8332	420	15	3	3947	3	KIF13A	6	17826293	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08		17826293	153288774	32	3481											
OR2B3	442184	broad.mit.edu	37	chr6	29054831	29054831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatctaagatggagagAttagtgagaaagaaatacat	19	8	11	3	0	1	5	0	1	1	5	1	9	1	6	0	1	1	0	0	1	5	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:29054831A>T	uc003nlx.3	-	0	260	c.195T>A	c.(193-195)aaT>aaA	p.N65K		NM_001005226	NP_001005226			Homo sapiens olfactory receptor, family 2, subfamily B, member 3 (OR2B3), mRNA.											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						AGATGGAGAGATTAGTGAGAA	0.398													T	29054831	A	T	29054831	3	4	56	1	0	0	0	0	1	0	0	0	11066	330	12	5	750	5	OR2B3	6	29054831	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	11228538	29054831	142060236	33	3482											
BTNL2	56244	broad.mit.edu	37	chr6	32372722	32372722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagatattcacctgctaCtttgagcagcaagcttgttt	9	13	7	12	0	1	2	1	1	0	1	1	2	1	2	3	0	5	5	3	0	3	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:32372722C>T	uc003obg.1	-	1	421	c.421G>A	c.(421-423)Gta>Ata	p.V141I	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	141						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						TCACCTGCTACTTTGAGCAGC	0.448													T	32372722	C	T	32372722	3	4	56	1	0	0	0	0	1	0	0	0	1575	565	20	2	966	2	BTNL2	6	32372722	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	3317891	32372722	138742345	34	3483											
CGA	1081	broad.mit.edu	37	chr6	87796012	87796012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtggactctgaggtgaCgttcttttggaccaacatcg	9	11	12	9	2	2	2	0	2	2	0	3	4	2	4	1	3	1	2	1	3	2	3	rs145503313		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:87796012C>T	uc003plj.2	-	2	371	c.229G>A	c.(229-231)Gtc>Atc	p.V77I	CGA_uc021zci.1_Missense_Mutation_p.V108I	NM_000735	NP_000726	P01215	GLHA_HUMAN	Homo sapiens glycoprotein hormones, alpha polypeptide (CGA), transcript variant 2, mRNA.	77					hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity	p.V77I(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)	15		all_cancers(76;5.98e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;5.29e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.000102)		BRCA - Breast invasive adenocarcinoma(108;0.0484)		TCTGAGGTGACGTTCTTTTGG	0.483													T	87796012	C	T	87796012	3	4	56	1	0	0	0	0	1	0	0	0	3325	536	19	1	129	1	CGA	6	87796012	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	55423290	87796012	83319055	35	3484											
LAMA2	3908	broad.mit.edu	37	chr6	129813614	129813614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctttcctacgcccaccCcagttctgacacatgtaagt	9	10	6	16	1	1	1	0	1	1	0	2	1	2	1	5	0	2	2	5	0	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:129813614C>T	uc021zfb.1	+	57	8335	c.8230C>T	c.(8230-8232)Cca>Tca	p.P2744S	LAMA2_uc003qbn.3_Missense_Mutation_p.P2742S|LAMA2_uc003qbo.3_Missense_Mutation_p.P2738S|BC035400_uc003qbq.3_Intron	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2744					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACGCCCACCCCAGTTCTGAC	0.443													T	129813614	C	T	129813614	3	4	56	1	0	0	0	0	1	0	0	0	8665	623	22	2	8460	2	LAMA2	6	129813614	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	42017602	129813614	41301453	36	3485											
PLG	5340	broad.mit.edu	37	chr6	161127532	161127532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcaggaagtatagaagAatgtgcagcaaaatgtgagg	16	6	16	3	0	0	3	0	1	0	2	0	5	0	5	0	3	3	4	0	3	7	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr6:161127532A>G	uc003qtm.4	+	1	255	c.143A>G	c.(142-144)gAa>gGa	p.E48G	PLG_uc021zhr.1_Missense_Mutation_p.E48G	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	48	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity	p.E47K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGTATAGAAGAATGTGCAGCA	0.468													G	161127532	A	G	161127532	3	3	56	1	0	0	0	0	1	0	0	0	12163	246	9	3	149	3	PLG	6	161127532	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	31313918	161127532	9987535	37	3486											
C7orf41	222166	broad.mit.edu	37	chr7	30174862	30174862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggatttctacgccgaccCcggcgtctccttctatgtgc	5	12	10	14	4	3	0	0	0	3	0	4	3	3	1	4	2	2	0	4	2	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:30174862C>T	uc011kab.1	+	0	311	c.110C>T	c.(109-111)cCc>cTc	p.P37L	C7orf41_uc003tar.1_Missense_Mutation_p.P37L	NM_152793	NP_690006	Q8N3F0	CG041_HUMAN	Homo sapiens chromosome 7 open reading frame 41 (C7orf41), mRNA.	37										NS(1)|large_intestine(2)	3						TACGCCGACCCCGGCGTCTCC	0.642													T	30174862	C	T	30174862	3	4	56	1	0	0	0	0	1	0	0	0	2415	623	22	2	112	2	C7orf41	7	30174862	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		30174862	128963801	38	3487											
PDE1C	5137	broad.mit.edu	37	chr7	31855588	31855588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctttggagtttttcccaCgagggttgtcacttttgttt	4	18	11	8	2	1	0	1	0	0	0	2	2	2	1	1	3	0	4	1	3	0	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:31855588C>T	uc003tcm.2	-	14	2224	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	PDE1C_uc003tcn.1_Missense_Mutation_p.R588H|PDE1C_uc003tco.2_Missense_Mutation_p.R648H|PDE1C_uc003tcr.3_Missense_Mutation_p.R588H|PDE1C_uc003tcs.3_Missense_Mutation_p.R588H	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	588					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GTTTTTCCCACGAGGGTTGTC	0.468													T	31855588	C	T	31855588	3	4	56	1	0	0	0	0	1	0	0	0	11711	536	19	1	153	1	PDE1C	7	31855588	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1680726	31855588	127283075	39	3488											
C7orf10	79783	broad.mit.edu	37	chr7	40228112	40228112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagctggtgatgatacacGaacttgggggccaccttttg	9	10	14	8	1	0	2	0	2	0	0	0	4	0	3	2	4	3	1	2	4	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:40228112G>A	uc022acd.1	+	3	290	c.266G>A	c.(265-267)cGa>cAa	p.R89Q	C7orf10_uc003thn.2_Missense_Mutation_p.R89Q|C7orf10_uc003tho.2_Missense_Mutation_p.R89Q	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	89							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GATGATACACGAACTTGGGGG	0.338													A	40228112	G	A	40228112	3	1	56	1	0	0	0	0	1	0	0	0	2400	1058	37	1	280	1	C7orf10	7	40228112	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	8372524	40228112	118910551	40	3489											
EGFR	1956	broad.mit.edu	37	chr7	55223624	55223624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgtaagaagtgcgaaGggccttgccgcaaaggtagg	12	6	16	7	2	0	1	0	0	0	1	0	2	0	1	2	3	2	4	2	3	6	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:55223624G>A	uc003tqk.3	+	7	1237	c.991G>A	c.(991-993)Ggg>Agg	p.G331R	EGFR_uc003tqh.3_Missense_Mutation_p.G331R|EGFR_uc003tqi.3_Missense_Mutation_p.G331R|EGFR_uc003tqj.3_Missense_Mutation_p.G331R|EGFR_uc022adm.1_Missense_Mutation_p.G331R|EGFR_uc010kzg.2_Missense_Mutation_p.G286R|EGFR_uc022adn.1_Missense_Mutation_p.G286R|EGFR_uc011kco.2_Missense_Mutation_p.G278R|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	331					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G331G(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAAGTGCGAAGGGCCTTGCCG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55223624	G	A	55223624	3	1	56	1	0	0	0	0	1	0	0	0	5006	1000	35	2	1021	2	EGFR	7	55223624	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	14995512	55223624	103915039	41	3490											
WBSCR17	64409	broad.mit.edu	37	chr7	71130459	71130459	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcccacattgagcggAagaagaagccatataatagc	14	6	13	8	1	0	3	0	1	0	2	0	4	0	4	2	3	3	0	2	3	6	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:71130459A>T	uc003tvy.3	+	6	1144	c.1144A>T	c.(1144-1146)Aag>Tag	p.K382*	WBSCR17_uc003tvz.3_Nonsense_Mutation_p.K81*	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	382						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CATTGAGCGGAAGAAGAAGCC	0.488													T	71130459	A	T	71130459	4	4	56	1	0	0	0	0	0	1	0	0	17366	247	9	5	1170	5	WBSCR17	7	71130459	Nonsense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	15906835	71130459	88008204	42	3491											
MLXIPL	51085	broad.mit.edu	37	chr7	73011056	73011056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggcctggaggtggccGgggcggtgtaggggccgggg	2	4	26	9	4	0	0	0	0	0	0	0	1	0	1	4	12	0	1	4	12	1	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:73011056G>A	uc003tyn.1	-	10	1783	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.R579W|MLXIPL_uc003tym.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyl.1_Missense_Mutation_p.R579W|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.R485W|MLXIPL_uc003tyq.1_Missense_Mutation_p.R346W	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	579					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGAGGTGGCCGGGGCGGTGTA	0.692													A	73011056	G	A	73011056	3	1	56	1	0	0	0	0	1	0	0	0	9712	1115	39	1	851	1	MLXIPL	7	73011056	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	1880597	73011056	86127607	43	3492											
SEMA3C	10512	broad.mit.edu	37	chr7	80390932	80390932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatagcttagtttttacCtttttagatgaaattttcat	13	20	4	4	0	1	2	1	1	0	1	1	2	1	2	1	0	2	2	1	0	7	11			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:80390932C>A	uc011kgw.2	-	14	1618	c.1539_splice	c.e14+1	p.K513_splice	SEMA3C_uc003uhj.3_Splice_Site_p.K495_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	495					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAGTTTTTACCTTTTTAGATG	0.229													A	80390932	C	A	80390932	3	1	56	1	0	0	0	0	1	0	0	0	14119	695	24	4	790	4	SEMA3C	7	80390932	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	7379876	80390932	78747731	44	3493											
PCLO	27445	broad.mit.edu	37	chr7	82581469	82581469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacacagctcttctccctgCggttaaatcaacgggttttt	8	13	8	12	2	3	0	1	0	2	0	4	0	3	0	1	2	3	4	1	2	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:82581469C>T	uc003uhx.2	-	4	9089	c.8800G>A	c.(8800-8802)Gca>Aca	p.A2934T	PCLO_uc003uhv.2_Missense_Mutation_p.A2934T|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2865					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTTCTCCCTGCGGTTAAATCA	0.433													T	82581469	C	T	82581469	3	4	56	1	0	0	0	0	1	0	0	0	11659	768	27	1	6729	1	PCLO	7	82581469	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	2190537	82581469	76557194	45	3494											
SAMD9L	219285	broad.mit.edu	37	chr7	92761300	92761300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttctagctttttccTgcaattctcctcctggagta	7	15	7	12	0	2	1	0	0	2	1	5	2	4	2	3	1	3	4	3	1	3	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92761300T>C	uc003umh.1	-	4	5201	c.3985A>G	c.(3985-3987)Agg>Ggg	p.R1329G	SAMD9L_uc003umj.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umi.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfb.1_Missense_Mutation_p.R1329G|SAMD9L_uc003umk.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfc.1_Missense_Mutation_p.R1329G|SAMD9L_uc010lfd.1_Missense_Mutation_p.R1329G|SAMD9L_uc022ahh.1_Missense_Mutation_p.R1329G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1329										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGCTTTTTCCTGCAATTCTCC	0.388													C	92761300	T	C	92761300	3	2	56	1	0	0	0	0	1	0	0	0	13918	1579	55	3	773	3	SAMD9L	7	92761300	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	10179831	92761300	66377363	46	3495											
HEPACAM2	253012	broad.mit.edu	37	chr7	92848596	92848596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaccacagacttattcacaGagcccagtaagtatttgggc	13	9	9	10	0	1	2	1	0	0	2	1	3	1	2	2	1	2	2	2	1	4	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:92848596G>A	uc011khy.2	-	2	340	c.317C>T	c.(316-318)tCt>tTt	p.S106F	HEPACAM2_uc003uml.3_Missense_Mutation_p.S71F|HEPACAM2_uc010lff.3_Missense_Mutation_p.S71F|HEPACAM2_uc003umm.3_Missense_Mutation_p.S83F	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	83						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTATTCACAGAGCCCAGTAA	0.478													A	92848596	G	A	92848596	3	1	56	1	0	0	0	0	1	0	0	0	7108	942	33	2	1176	2	HEPACAM2	7	92848596	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	87296	92848596	66290067	47	3496											
NPTX2	4885	broad.mit.edu	37	chr7	98254367	98254367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgtggctgcggtccagCgcctcaccaggcattggcac	5	8	13	15	2	1	0	1	0	0	0	2	0	2	0	4	4	3	3	4	4	0	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:98254367C>T	uc003upl.2	+	2	954	c.777C>T	c.(775-777)agC>agT	p.S259S		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	259	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TGCGGTCCAGCGCCTCACCAG	0.607													T	98254367	C	T	98254367	2	4	56	1	0	0	0	0	0	0	0	1	10679	767	27	1		1	NPTX2	7	98254367	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	5405771	98254367	60884296	48	3497											
LAMB4	22798	broad.mit.edu	37	chr7	107720190	107720190	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggaactggctctcctaaAacaacgtgaacagcaggact	14	6	9	12	1	1	1	0	1	1	0	2	3	1	3	2	3	5	2	2	3	5	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:107720190A>C	uc010ljo.1	-	14	1827	c.1743T>G	c.(1741-1743)gtT>gtG	p.V581V	LAMB4_uc003vey.2_Silent_p.V581V	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	581	Laminin IV type B.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GCTCTCCTAAAACAACGTGAA	0.502													C	107720190	A	C	107720190	2	2	56	1	0	0	0	0	0	0	0	1	8672	1	1	5		5	LAMB4	7	107720190	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08	9465823	107720190	51418473	49	3498											
EPHA1	2041	broad.mit.edu	37	chr7	143095767	143095767	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccctgacactccattttgGgcttccacattaaaggtgta	10	12	8	11	0	0	1	0	1	0	0	2	1	2	1	3	2	1	2	3	2	3	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:143095767G>C	uc003wcz.3	-	5	1350	c.1263C>G	c.(1261-1263)gcC>gcG	p.A421A		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	421	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CTCCATTTTGGGCTTCCACAT	0.607													C	143095767	G	C	143095767	2	2	56	1	0	0	0	0	0	0	0	1	5206	1219	43	4		4	EPHA1	7	143095767	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	35375577	143095767	16042896	50	3499											
GIMAP4	55303	broad.mit.edu	37	chr7	150269791	150269791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgggcctgatccagcgCgtggtgagggagaacaagga	9	7	17	8	2	0	3	0	2	0	1	1	5	1	4	2	4	3	1	2	4	2	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr7:150269791C>T	uc003whl.3	+	2	715	c.633C>T	c.(631-633)cgC>cgT	p.R211R	GIMAP4_uc011kuu.2_Silent_p.R72R|GIMAP4_uc011kuv.2_Silent_p.R225R	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGATCCAGCGCGTGGTGAGGG	0.542													T	150269791	C	T	150269791	2	4	56	1	0	0	0	0	0	0	0	1	6437	755	27	1		1	GIMAP4	7	150269791	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	7174024	150269791	8868872	51	3500											
KCNU1	157855	broad.mit.edu	37	chr8	36693858	36693858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctaccaccagaatcatcaTacagatactgcaatcccata	15	10	3	13	0	3	2	2	0	1	2	4	2	4	2	3	0	4	1	3	0	6	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:36693858T>A	uc010lvw.3	+	12	1427	c.1340T>A	c.(1339-1341)aTa>aAa	p.I447K	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	447	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGAATCATCATACAGATACTG	0.358													A	36693858	T	A	36693858	3	1	56	1	0	0	0	0	1	0	0	0	8151	1406	49	5	1390	5	KCNU1	8	36693858	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		36693858	109670164	52	3501											
TMEM70	54968	broad.mit.edu	37	chr8	74893724	74893724	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattttatgctaaaacaaaAtcactgttagttaatccagt	16	14	4	7	0	1	0	1	0	0	0	2	0	2	0	1	0	2	3	1	0	7	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:74893724A>C	uc003yab.3	+	2	791	c.651A>C	c.(649-651)aaA>aaC	p.K217N	TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_3'UTR	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane		p.T216I(1)		breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CTAAAACAAAATCACTGTTAG	0.343													C	74893724	A	C	74893724	3	2	56	1	0	0	0	0	1	0	0	0	16299	98	4	5	669	5	TMEM70	8	74893724	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	38199866	74893724	71470298	53	3502											
KIAA0196	9897	broad.mit.edu	37	chr8	126056120	126056120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtgttttggcaatggCggaaaaataaattttatttg	11	17	9	4	1	1	0	0	0	1	0	1	1	1	1	0	3	0	2	0	3	6	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:126056120C>T	uc003yrt.3	-	22	3126	c.2797G>A	c.(2797-2799)Gcc>Acc	p.A933T	KIAA0196_uc011lir.2_Missense_Mutation_p.A785T	NM_014846	NP_055661	Q12768	STRUM_HUMAN	Homo sapiens KIAA0196 (KIAA0196), mRNA.	933					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTGGCAATGGCGGAAAAATAA	0.353													T	126056120	C	T	126056120	3	4	56	1	0	0	0	0	1	0	0	0	8219	768	27	1	710	1	KIAA0196	8	126056120	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	51162396	126056120	20307902	54	3503											
GPR20	2843	broad.mit.edu	37	chr8	142367229	142367229	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggcatgtcgggccacagCgccacggccacttggcgggc	5	6	16	14	4	0	0	0	0	0	0	1	0	0	0	3	5	1	1	3	5	0	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr8:142367229C>A	uc022bby.1	-	0	795	c.795G>T	c.(793-795)gcG>gcT	p.A265A	GPR20_uc003ywf.3_Silent_p.A265A	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	265						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CGGGCCACAGCGCCACGGCCA	0.657													A	142367229	C	A	142367229	2	1	56	1	0	0	0	0	0	0	0	1	6734	755	27	4		4	GPR20	8	142367229	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	16311109	142367229	3996793	55	3504											
SMARCA2	6595	broad.mit.edu	37	chr9	2104169	2104169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttacctacgccttgatGgtaagtgcataaggcattag	10	13	9	9	1	0	1	0	1	0	0	1	1	1	1	3	2	3	3	3	2	5	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:2104169G>A	uc003zhc.3	+	23	3391	c.3292_splice	c.e23+1	p.G1098_splice	SMARCA2_uc003zhd.3_Splice_Site_p.G1098_splice|SMARCA2_uc010mha.3_Splice_Site_p.G1031_splice	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	1098	Helicase C-terminal.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		ACGCCTTGATGGTAAGTGCAT	0.438													A	2104169	G	A	2104169	3	1	56	1	0	0	0	0	1	0	0	0	14863	1362	47	2	3378	2	SMARCA2	9	2104169	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2104169	139109262	56	3505											
KIAA2026	158358	broad.mit.edu	37	chr9	5944873	5944874	+	Frame_Shift_Ins	INS	-	-	T																															tttggatcaacacctaccgaINStttttttctactgttttcca																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:5944873_5944874insT	uc003zjq.4	-	4	2595_2596	c.2379_2380insA	c.(2377-2382)aaatcgfs	p.K793fs	KIAA2026_uc010mht.3_Intron	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	793										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		ACACCTACCGATTTTTTTCTAC	0.307													T	5944874	-	T	5944873	7	5	56	1	0	1	1	0	0	0	0	0	8328	333	12	0	3947	0	KIAA2026	9	5944873	Frame_Shift_Ins	INS	-	TCGA-06-0649-01B-01W-0348-08	3840704	5944873	135268558	57	3506											
TRPM3	80036	broad.mit.edu	37	chr9	73152156	73152156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtcctcgagcggattttGttggactcggcccgctccag	5	10	14	12	4	0	0	0	0	0	0	4	4	2	2	3	4	1	2	3	4	0	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:73152156G>T	uc004aid.3	-	24	4081	c.3837C>A	c.(3835-3837)aaC>aaA	p.N1279K	TRPM3_uc004ahu.3_Missense_Mutation_p.N1121K|TRPM3_uc004ahv.3_Missense_Mutation_p.N1081K|TRPM3_uc004ahw.3_Missense_Mutation_p.N1151K|TRPM3_uc004ahx.3_Missense_Mutation_p.N1138K|TRPM3_uc004ahy.3_Missense_Mutation_p.N1141K|TRPM3_uc004ahz.3_Missense_Mutation_p.N1128K|TRPM3_uc004aia.3_Missense_Mutation_p.N1126K|TRPM3_uc004aib.3_Missense_Mutation_p.N1116K|TRPM3_uc004aic.3_Missense_Mutation_p.N1279K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1304						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						AGCGGATTTTGTTGGACTCGG	0.627													T	73152156	G	T	73152156	3	4	56	1	0	0	0	0	1	0	0	0	16688	1368	48	4	1290	4	TRPM3	9	73152156	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	67207283	73152156	68061275	58	3507											
TRPM6	140803	broad.mit.edu	37	chr9	77377948	77377948	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagtcagggcagagagAtcctgcaggtgtcccacctg	9	7	12	13	0	1	2	1	0	0	2	4	3	4	2	4	2	1	2	4	2	0	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:77377948A>G	uc004ajl.1	-	25	3877	c.3639T>C	c.(3637-3639)gaT>gaC	p.D1213D	TRPM6_uc004ajk.1_Silent_p.D1208D|TRPM6_uc022bib.1_Silent_p.D1208D|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Intron|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron|TRPM6_uc004ajj.1_Silent_p.D169D	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	1213					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity	p.Q1212*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GGGCAGAGAGATCCTGCAGGT	0.463													G	77377948	A	G	77377948	2	3	56	1	0	0	0	0	0	0	0	1	16691	330	12	3		3	TRPM6	9	77377948	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08	4225792	77377948	63835483	59	3508											
PCSK5	5125	broad.mit.edu	37	chr9	78969093	78969093	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgctgcaacacctctgatCcccccagtgcccaggagtgc	8	7	9	17	0	1	1	0	1	1	0	2	2	2	2	5	1	5	2	5	1	1	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:78969093C>A	uc004akc.2	+	35	5669	c.5131C>A	c.(5131-5133)Ccc>Acc	p.P1711T		NM_001190482	NP_001177411	Q92824	PCSK5_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 5 (PCSK5), transcript variant 1, mRNA.	776					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CACCTCTGATCCCCCCAGTGC	0.612													A	78969093	C	A	78969093	3	1	56	1	0	0	0	0	1	0	0	0	11679	870	30	4		4	PCSK5	9	78969093	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1591145	78969093	62244338	60	3509											
TTC16	158248	broad.mit.edu	37	chr9	130489287	130489287	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctcttcccgggcatgtcGgtggaggaggtgcttagcac	7	9	14	11	2	1	0	0	0	1	0	3	2	2	2	2	5	3	3	2	5	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:130489287G>T	uc004brq.1	+	10	1531	c.1464G>T	c.(1462-1464)tcG>tcT	p.S488S	PTRH1_uc011mah.2_5'Flank|TTC16_uc011mai.1_Silent_p.S475S|TTC16_uc004brr.1_Intron|TTC16_uc010mxn.1_Silent_p.S84S	NM_144965	NP_659402	Q8NEE8	TTC16_HUMAN	Homo sapiens tetratricopeptide repeat domain 16 (TTC16), mRNA.	488							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						CGGGCATGTCGGTGGAGGAGG	0.642													T	130489287	G	T	130489287	2	4	56	1	0	0	0	0	0	0	0	1	16785	1103	39	4		4	TTC16	9	130489287	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	51520194	130489287	10724144	61	3510											
RXRA	6256	broad.mit.edu	37	chr9	137309139	137309139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcccaagaccgagacctAcgtggaggcaaacatggggc	12	3	15	11	2	0	2	0	0	0	2	0	5	0	4	3	5	3	1	3	5	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr9:137309139A>T	uc004cfb.2	+	4	908	c.746A>T	c.(745-747)tAc>tTc	p.Y249F	RXRA_uc004cfc.1_Missense_Mutation_p.Y152F|RXRA_uc004cfd.1_Missense_Mutation_p.Y20F	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	249	Ligand-binding.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding	p.T248T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACCGAGACCTACGTGGAGGCA	0.622													T	137309139	A	T	137309139	3	4	56	1	0	0	0	0	1	0	0	0	13854	391	14	5	764	5	RXRA	9	137309139	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	6819852	137309139	3904292	62	3511											
ERCC6	2074	broad.mit.edu	37	chr10	50667268	50667268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcttttccctccttttTcatgatgccatcctataaaa	10	18	2	11	0	2	1	1	1	1	0	5	1	5	1	4	0	1	0	4	0	4	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:50667268T>C	uc001jhs.4	-	20	4229	c.4075A>G	c.(4075-4077)Aaa>Gaa	p.K1359E	ERCC6_uc009xod.3_Missense_Mutation_p.K519E|ERCC6_uc010qgr.2_Missense_Mutation_p.K729E|ERCC6_uc001jhr.4_Missense_Mutation_p.K727E	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	1359					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CCCTCCTTTTTCATGATGCCA	0.443								Direct reversal of damage;Nucleotide excision repair (NER)					C	50667268	T	C	50667268	3	2	56	1	0	0	0	0	1	0	0	0	5258	1792	62	3	410	3	ERCC6	10	50667268	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		50667268	84867479	63	3512											
PCDH15	65217	broad.mit.edu	37	chr10	55582616	55582616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttcagttgtaagcaatgGattgctgctacctcttttgt	7	17	8	9	0	3	0	1	0	2	0	3	1	3	1	1	1	4	5	1	1	3	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:55582616G>A	uc010qhy.1	-	34	5286	c.4891C>T	c.(4891-4893)Cca>Tca	p.P1631S	PCDH15_uc010qhq.2_Intron|PCDH15_uc010qhr.2_Intron|PCDH15_uc021pqv.1_Intron|PCDH15_uc021pqw.1_Intron|PCDH15_uc010qht.2_Intron|PCDH15_uc021pqx.1_Intron|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Missense_Mutation_p.P1626S|PCDH15_uc021pqz.1_Missense_Mutation_p.P1601S|PCDH15_uc010qhv.1_Missense_Mutation_p.P1621S|PCDH15_uc010qhw.1_Missense_Mutation_p.P1584S|PCDH15_uc010qhx.1_Missense_Mutation_p.P1555S|PCDH15_uc010qhz.1_Missense_Mutation_p.P1626S|PCDH15_uc010qia.1_Missense_Mutation_p.P1604S|PCDH15_uc001jju.1_Missense_Mutation_p.P1624S|PCDH15_uc010qib.1_Missense_Mutation_p.P1601S	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1624					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.A1631V(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GTAAGCAATGGATTGCTGCTA	0.418										HNSCC(58;0.16)			A	55582616	G	A	55582616	3	1	56	1	0	0	0	0	1	0	0	0	11587	1174	41	2	2607	2	PCDH15	10	55582616	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	4915348	55582616	79952131	64	3513											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:89692904C>G	uc001kfb.3	+	4	1420	c.388C>G	c.(388-390)Cga>Gga	p.R130G	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89692904	C	G	89692904	3	3	56	1	0	0	0	0	1	0	0	0	12823	528	19	4	406	4	PTEN	10	89692904	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	34110288	89692904	45841843	65	3514											
HTR7	3363	broad.mit.edu	37	chr10	92509172	92509172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcggtagagtaaatcGtatagccaaagtcctggctg	11	9	11	10	2	0	1	0	0	0	1	2	1	1	1	3	2	2	4	3	2	6	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:92509172G>A	uc001kha.3	-	1	962	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HTR7_uc001kgz.3_Missense_Mutation_p.T240M|HTR7_uc001khb.3_Missense_Mutation_p.T240M	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	240					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGAGTAAATCGTATAGCCAAA	0.473													A	92509172	G	A	92509172	3	1	56	1	0	0	0	0	1	0	0	0	7510	1145	40	1	736	1	HTR7	10	92509172	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	2816268	92509172	43025575	66	3515											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060363	116060363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccatgcagaaaggacttGacaggtgtgaggtccaggta	11	7	16	7	0	0	3	0	2	0	1	1	4	1	4	2	5	1	2	2	5	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:116060363G>A	uc001lbn.3	-	13	1930	c.1629C>T	c.(1627-1629)gtC>gtT	p.V543V	AFAP1L2_uc001lbo.3_Silent_p.V543V|AFAP1L2_uc010qse.2_Silent_p.V596V|AFAP1L2_uc001lbp.3_Silent_p.V571V|AFAP1L2_uc001lbr.1_Silent_p.V543V|AFAP1L2_uc001lbm.3_Intron|AFAP1L2_uc010qsd.2_Silent_p.V109V|AFAP1L2_uc001lbq.1_Silent_p.V65V	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	543					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAAAGGACTTGACAGGTGTGA	0.602													A	116060363	G	A	116060363	2	1	56	1	0	0	0	0	0	0	0	1	355	1277	45	2		2	AFAP1L2	10	116060363	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	23551191	116060363	19474384	67	3516											
ATRNL1	26033	broad.mit.edu	37	chr10	117607492	117607492	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaggtgcccctcccccTgggcagtcaggtatgataaa	9	9	10	13	0	3	1	3	1	0	0	4	1	4	1	4	3	1	2	4	3	3	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:117607492T>G	uc001lcg.3	+	27	4394	c.4008T>G	c.(4006-4008)ccT>ccG	p.P1336P	ATRNL1_uc010qsm.2_Silent_p.P465P|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	1336						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CCCCTCCCCCTGGGCAGTCAG	0.468													G	117607492	T	G	117607492	2	3	56	1	0	0	0	0	0	0	0	1	1212	1567	55	5		5	ATRNL1	10	117607492	Silent	SNP	T	TCGA-06-0649-01B-01W-0348-08	1547129	117607492	17927255	68	3517											
MKI67	4288	broad.mit.edu	37	chr10	129913850	129913850	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaaaccatcagcactttcTttctctgttgcgtaatcagt	9	16	6	10	1	4	0	2	0	2	0	5	0	4	0	1	0	3	4	1	0	3	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr10:129913850T>A	uc001lke.3	-	6	1017	c.822A>T	c.(820-822)aaA>aaT	p.K274N	MKI67_uc001lkf.3_Intron|MKI67_uc009yav.1_Intron|MKI67_uc009yaw.1_Intron	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	274					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGCACTTTCTTTCTCTGTTG	0.443													A	129913850	T	A	129913850	3	1	56	1	0	0	0	0	1	0	0	0	9673	1606	56	5	8984	5	MKI67	10	129913850	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08	12306358	129913850	5620897	69	3518											
CHRNA10	57053	broad.mit.edu	37	chr11	3687530	3687530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctggcggcacagacatCgtggctcgtggcaagggccc	6	7	14	14	3	0	1	0	0	0	1	3	1	1	1	2	5	0	3	2	5	1	1	rs148252978		TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:3687530C>T	uc001lyf.3	-	4	1232	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	CHRNA10_uc010qxt.2_Missense_Mutation_p.R181Q|CHRNA10_uc010qxu.2_Missense_Mutation_p.R181Q	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	387					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	GCACAGACATCGTGGCTCGTG	0.667													T	3687530	C	T	3687530	3	4	56	1	0	0	0	0	1	0	0	0	3412	884	31	1	196	1	CHRNA10	11	3687530	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		3687530	131318986	70	3519											
OR5I1	10798	broad.mit.edu	37	chr11	55703265	55703265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatttccactgagctgccGtatgtggagaggagccactc	9	10	12	10	1	0	3	0	2	0	1	2	5	1	4	3	2	3	2	3	2	1	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:55703265G>A	uc010ris.2	-	0	612	c.612C>T	c.(610-612)taC>taT	p.Y204Y		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CTGAGCTGCCGTATGTGGAGA	0.403													A	55703265	G	A	55703265	2	1	56	1	0	0	0	0	0	0	0	1	11240	1140	40	1		1	OR5I1	11	55703265	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	52015735	55703265	79303251	71	3520											
TCN1	6947	broad.mit.edu	37	chr11	59630104	59630104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttctagcttgtcgatcagGtggtaatcatatattaagtt	10	18	8	5	1	3	0	2	0	1	0	4	1	3	0	0	2	1	3	0	2	5	9			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:59630104G>T	uc001noj.2	-	2	449	c.351C>A	c.(349-351)caC>caA	p.H117Q		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	117					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCGATCAGGTGGTAATCAT	0.383													T	59630104	G	T	59630104	3	4	56	1	0	0	0	0	1	0	0	0	15806	1252	44	4	978	4	TCN1	11	59630104	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	3926839	59630104	75376412	72	3521											
FAT3	120114	broad.mit.edu	37	chr11	92624150	92624150	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggcacctcatcctcGgatgtgtctgccaactgcgg	7	9	11	14	2	2	1	1	0	1	1	5	2	4	2	4	3	3	1	4	3	1	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:92624150G>C	uc001pdj.4	+	24	13562	c.13545G>C	c.(13543-13545)tcG>tcC	p.S4515S	FAT3_uc001pdi.4_Silent_p.S987S	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	4547					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCTCATCCTCGGATGTGTCTG	0.557										TCGA Ovarian(4;0.039)			C	92624150	G	C	92624150	2	2	56	1	0	0	0	0	0	0	0	1	5740	1103	39	4		4	FAT3	11	92624150	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	32994046	92624150	42382366	73	3522											
MMP20	9313	broad.mit.edu	37	chr11	102477401	102477401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccccaggaatactttcCgaggtcctaggattcaaaat	11	11	8	11	1	1	0	1	0	0	0	4	3	4	2	4	3	1	1	4	3	5	5	rs141875245	byFrequency	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:102477401C>T	uc001phc.3	-	5	831	c.818G>A	c.(817-819)cGg>cAg	p.R273Q		NM_004771	NP_004762	O60882	MMP20_HUMAN	Homo sapiens matrix metallopeptidase 20 (MMP20), mRNA.	273					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		GAATACTTTCCGAGGTCCTAG	0.522													T	102477401	C	T	102477401	3	4	56	1	0	0	0	0	1	0	0	0	9734	652	23	1	653	1	MMP20	11	102477401	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	9853251	102477401	32529115	74	3523											
ARHGAP32	9743	broad.mit.edu	37	chr11	128994764	128994764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagagtaagatctccaggaAtctctggaacatctgcgcct	12	10	9	10	1	3	2	0	0	3	2	5	4	3	4	2	2	2	1	2	2	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr11:128994764A>G	uc009zcp.3	-	2	251	c.251T>C	c.(250-252)aTt>aCt	p.I84T	ARHGAP32_uc009zcq.2_Missense_Mutation_p.I44T	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	84					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ATCTCCAGGAATCTCTGGAAC	0.328													G	128994764	A	G	128994764	3	3	56	1	0	0	0	0	1	0	0	0	884	101	4	3	6092	3	ARHGAP32	11	128994764	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	26517363	128994764	6011752	75	3524											
CACNA1C	775	broad.mit.edu	37	chr12	2786282	2786282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaggtcaccgttggcaaGttctacgccacgttcctgat	8	11	11	11	3	2	2	1	2	1	0	3	3	3	2	3	2	1	4	3	2	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:2786282G>T	uc009zdu.1	+	41	5308	c.4995G>T	c.(4993-4995)aaG>aaT	p.K1665N	CACNA1C_uc001qkc.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qjz.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkd.2_Missense_Mutation_p.K1636N|CACNA1C_uc001qke.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qkf.2_Missense_Mutation_p.K1625N|CACNA1C_uc009zdw.1_Missense_Mutation_p.K1658N|CACNA1C_uc001qkg.2_Missense_Mutation_p.K1623N|CACNA1C_uc001qkh.2_Missense_Mutation_p.K1625N|CACNA1C_uc001qkl.2_Missense_Mutation_p.K1665N|CACNA1C_uc001qkj.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkk.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkn.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkm.2_Missense_Mutation_p.K1606N|CACNA1C_uc001qko.2_Missense_Mutation_p.K1637N|CACNA1C_uc001qkp.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkq.2_Missense_Mutation_p.K1645N|CACNA1C_uc001qku.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkr.2_Missense_Mutation_p.K1634N|CACNA1C_uc001qks.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qkt.2_Missense_Mutation_p.K1636N|CACNA1C_uc009zdv.1_Missense_Mutation_p.K1614N|CACNA1C_uc001qkb.2_Missense_Mutation_p.K1617N|CACNA1C_uc001qki.1_Missense_Mutation_p.K1353N|CACNA1C_uc010sea.1_Missense_Mutation_p.K308N|AK093746_uc001qkx.1_Non-coding_Transcript|CACNA1C_uc001qky.1_5'Flank	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1665					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CCGTTGGCAAGTTCTACGCCA	0.527													T	2786282	G	T	2786282	3	4	56	1	0	0	0	0	1	0	0	0	2566	1020	36	4	5392	4	CACNA1C	12	2786282	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2786282	131065613	76	3525											
KLRG1	10219	broad.mit.edu	37	chr12	9144889	9144889	+	Frame_Shift_Del	DEL	A	A	-																															tctgagtgtgctgctataccAgtggatcctgtgccagggta																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9144889delA	uc001qvh.3	+	1	181	c.170delA	c.(169-171)cagfs	p.Q57fs	KLRG1_uc001qvg.3_Frame_Shift_Del_p.Q57fs	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	57					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						CTGCTATACCAGTGGATCCTG	0.398													-	9144889	A	-	9144889	7	5	56	1	0	1	0	1	0	0	0	0	8479	188	7	0	176	0	KLRG1	12	9144889	Frame_Shift_Del	DEL	A	TCGA-06-0649-01B-01W-0348-08	6358607	9144889	124707006	77	3526											
PZP	5858	broad.mit.edu	37	chr12	9345129	9345129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaatggaaactgagctcCgataactctcccatggcctg	11	9	10	11	1	1	1	0	1	1	0	3	3	2	2	3	3	3	2	3	3	3	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:9345129C>T	uc001qvl.3	-	11	1490	c.1461G>A	c.(1459-1461)tcG>tcA	p.S487S	PZP_uc009zgl.3_Silent_p.S356S	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AACTGAGCTCCGATAACTCTC	0.483													T	9345129	C	T	9345129	2	4	56	1	0	0	0	0	0	0	0	1	12957	639	23	1		1	PZP	12	9345129	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	200240	9345129	124506766	78	3527											
GUCY2C	2984	broad.mit.edu	37	chr12	14827688	14827688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggcaagagcaaagtctcGttttgtctaaataaaaaagg	17	10	9	5	1	2	1	0	0	2	1	3	1	2	1	0	2	1	3	0	2	8	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:14827688G>A	uc001rcd.3	-	7	1092	c.955C>T	c.(955-957)Cga>Tga	p.R319*	GUCY2C_uc009zhz.2_Nonsense_Mutation_p.R319*	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	319					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						GCAAAGTCTCGTTTTGTCTAA	0.363													A	14827688	G	A	14827688	4	1	56	1	0	0	0	0	0	1	0	0	6951	1153	40	1	2346	1	GUCY2C	12	14827688	Nonsense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	5482559	14827688	119024207	79	3528											
ARHGAP9	64333	broad.mit.edu	37	chr12	57868660	57868660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctctgagaaaatgacctCttttatccacagcagcaatg	12	11	8	10	0	2	2	0	2	2	1	4	3	3	2	2	1	2	2	2	1	4	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr12:57868660C>T	uc001sod.3	-	15	2112	c.1919G>A	c.(1918-1920)aGa>aAa	p.R640K	ARHGAP9_uc001sny.3_Non-coding_Transcript|ARHGAP9_uc001snz.3_Missense_Mutation_p.R366K|ARHGAP9_uc001soa.3_Missense_Mutation_p.R239K|ARHGAP9_uc001sob.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soc.3_Missense_Mutation_p.R550K|ARHGAP9_uc001soe.1_Missense_Mutation_p.R629K	NM_032496	NP_115885	Q9BRR9	RHG09_HUMAN	Homo sapiens Rho GTPase activating protein 9 (ARHGAP9), transcript variant 1, mRNA.	569	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	p.R569I(1)|p.R639R(1)		endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAAATGACCTCTTTTATCCAC	0.527													T	57868660	C	T	57868660	3	4	56	1	0	0	0	0	1	0	0	0	892	913	32	2	570	2	ARHGAP9	12	57868660	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	43040972	57868660	75983235	80	3529											
EBPL	84650	broad.mit.edu	37	chr13	50243922	50243922	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattacttacataaagaagCaatcaagccatcggaatttg	17	11	6	7	1	1	1	1	0	0	1	2	2	1	2	1	1	4	1	1	1	9	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr13:50243922C>A	uc001vdg.3	-	1	295	c.232G>T	c.(232-234)Gct>Tct	p.A78S	EBPL_uc001vdh.3_Non-coding_Transcript|EBPL_uc001vdi.3_Missense_Mutation_p.A78S	NM_032565	NP_115954	Q9BY08	EBPL_HUMAN	Homo sapiens emopamil binding protein-like (EBPL), mRNA.	78					sterol metabolic process	endoplasmic reticulum membrane|integral to membrane	cholestenol delta-isomerase activity			endometrium(8)|kidney(6)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Lung NSC(96;0.000468)|Breast(56;0.0011)|Prostate(109;0.00243)|Hepatocellular(98;0.0556)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.06e-09)		CATAAAGAAGCAATCAAGCCA	0.378											OREG0022412	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50243922	C	A	50243922	3	1	56	1	0	0	0	0	1	0	0	0	4926	710	25	4	400	4	EBPL	13	50243922	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		50243922	64925956	81	3530											
TINF2	26277	broad.mit.edu	37	chr14	24709082	24709082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagggggtaggtattcaCagagagtgggtatcaaggtg	12	8	17	4	0	2	2	2	0	0	2	2	3	2	2	0	5	0	3	0	5	5	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:24709082C>T	uc001woa.4	-	8	1619	c.1277G>A	c.(1276-1278)tGt>tAt	p.C426Y	TINF2_uc010alm.3_3'UTR|TINF2_uc001wob.4_3'UTR|TINF2_uc010tof.2_Missense_Mutation_p.C391Y|TINF2_uc001woc.4_3'UTR	NM_001099274	NP_001092744	Q9BSI4	TINF2_HUMAN	Homo sapiens TERF1 (TRF1)-interacting nuclear factor 2 (TINF2), transcript variant 1, mRNA.	426					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		TAGGTATTCACAGAGAGTGGG	0.463									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				T	24709082	C	T	24709082	3	4	56	1	0	0	0	0	1	0	0	0	16023	478	17	2	82	2	TINF2	14	24709082	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08		24709082	82640458	82	3531											
ZBTB25	7597	broad.mit.edu	37	chr14	64953897	64953897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttatgaccacagatggtaCagctcatttttcttttcctt	9	18	5	9	0	2	2	1	1	1	1	3	2	3	2	2	1	2	2	2	1	2	8			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:64953897C>T	uc001xhf.3	-	2	1235	c.1052G>A	c.(1051-1053)tGt>tAt	p.C351Y	ZBTB25_uc001xhc.3_Intron|ZBTB25_uc001xhg.3_Missense_Mutation_p.C351Y	NM_006977	NP_008908	P24278	ZBT25_HUMAN	Homo sapiens zinc finger and BTB domain containing 25 (ZBTB25), mRNA.	351						cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	10				all cancers(60;0.00865)|OV - Ovarian serous cystadenocarcinoma(108;0.0102)|BRCA - Breast invasive adenocarcinoma(234;0.0469)		ACAGATGGTACAGCTCATTTT	0.368													T	64953897	C	T	64953897	3	4	56	1	0	0	0	0	1	0	0	0	17633	478	17	2	259	2	ZBTB25	14	64953897	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	40244815	64953897	42395643	83	3532											
LTBP2	4053	broad.mit.edu	37	chr14	75017917	75017917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggcaggcagccagggCgggggtctggtctccacgct	4	6	19	12	2	2	0	0	0	2	0	3	0	2	0	2	7	1	4	2	7	0	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:75017917C>T	uc001xqa.3	-	6	1923	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.P512P(2)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCAGCCAGGGCGGGGGTCTGG	0.701													T	75017917	C	T	75017917	2	4	56	1	0	0	0	0	0	0	0	1	9144	755	27	1		1	LTBP2	14	75017917	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	10064020	75017917	32331623	84	3533											
SERPINA3	12	broad.mit.edu	37	chr14	95085658	95085658	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataccttacttccgggacgAggagctgtcctgcaccgtgg	7	10	12	12	3	0	0	0	0	0	0	2	3	2	2	4	3	4	2	4	3	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:95085658A>T	uc001ydp.3	+	2	929	c.770A>T	c.(769-771)gAg>gTg	p.E257V	SERPINA3_uc001ydo.4_Missense_Mutation_p.E282V|SERPINA3_uc001ydr.3_Intron|SERPINA3_uc021sbb.1_Intron|SERPINA3_uc010avg.3_Missense_Mutation_p.E257V|SERPINA3_uc001yds.3_Missense_Mutation_p.E257V	NM_001085	NP_001076	P01011	AACT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3 (SERPINA3), mRNA.	257					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity	p.E257K(1)		NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		TTCCGGGACGAGGAGCTGTCC	0.502													T	95085658	A	T	95085658	3	4	56	1	0	0	0	0	1	0	0	0	14183	304	11	5	776	5	SERPINA3	14	95085658	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	20067741	95085658	12263882	85	3534											
AHNAK2	113146	broad.mit.edu	37	chr14	105420083	105420083	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttccctgcccttgtcctGttcctcagtgatccttgtcc	2	16	7	16	0	2	1	1	1	1	0	7	1	7	1	6	0	1	1	6	0	0	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr14:105420083G>C	uc010axc.1	-	6	1825	c.1705C>G	c.(1705-1707)Cag>Gag	p.Q569E	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.Q469E	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	569						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGTCCTGTTCCTCAGTG	0.542													C	105420083	G	C	105420083	3	2	56	1	0	0	0	0	1	0	0	0	415	1386	48	4	15686	4	AHNAK2	14	105420083	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	10334425	105420083	1929457	86	3535											
ATP8B4	79895	broad.mit.edu	37	chr15	50226374	50226374	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgagaaatccacaggctcTttttcctgtaggagaacaac	13	10	8	10	0	1	2	0	1	1	2	3	4	3	2	2	2	2	2	2	2	4	3	rs114705901	by1000genomes	TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:50226374T>G	uc001zxu.3	-	14	1435	c.1293A>C	c.(1291-1293)aaA>aaC	p.K431N	ATP8B4_uc010ber.3_Missense_Mutation_p.K304N|ATP8B4_uc010ufd.2_Missense_Mutation_p.K304N|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	431					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CCACAGGCTCTTTTTCCTGTA	0.348													G	50226374	T	G	50226374	3	3	56	1	0	0	0	0	1	0	0	0	1202	1606	56	5	2341	5	ATP8B4	15	50226374	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		50226374	52305018	87	3536											
OR4F6	390648	broad.mit.edu	37	chr15	102346502	102346502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgcatagagacctacAcattgggattcatggttact	10	13	10	8	0	1	1	1	0	0	1	1	3	1	2	1	3	3	3	1	3	3	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr15:102346502A>G	uc010utr.2	+	0	580	c.580A>G	c.(580-582)Aca>Gca	p.T194A		NM_001005326	NP_001005326	Q8NGB9	OR4F6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 6 (OR4F6), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			AGAGACCTACACATTGGGATT	0.368													G	102346502	A	G	102346502	3	3	56	1	0	0	0	0	1	0	0	0	11142	159	6	3	582	3	OR4F6	15	102346502	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	52120128	102346502	184890	88	3537											
CYLD	1540	broad.mit.edu	37	chr16	50783900	50783900	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagataaatgaaaagttcacAgagttacttttggcaattac	16	12	8	5	0	1	3	1	1	0	2	1	4	1	3	0	1	2	3	0	1	7	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr16:50783900A>G	uc021tib.1	+	0	414	c.291A>G	c.(289-291)acA>acG	p.T97T	CYLD_uc002egn.1_Silent_p.T97T|CYLD_uc002ego.3_Silent_p.T97T|CYLD_uc010cbs.1_Silent_p.T97T|CYLD_uc002egp.1_Silent_p.T97T|CYLD_uc002egq.1_Silent_p.T97T|CYLD_uc002egr.1_Silent_p.T97T|CYLD_uc002egs.1_Silent_p.T97T	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	97					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAAAGTTCACAGAGTTACTTT	0.378			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				G	50783900	A	G	50783900	2	3	56	1	0	0	0	0	0	0	0	1	4176	175	7	3		3	CYLD	16	50783900	Silent	SNP	A	TCGA-06-0649-01B-01W-0348-08		50783900	39570853	89	3538											
CDK12	51755	broad.mit.edu	37	chr17	37687203	37687203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagaatccttggtccagacCctggtgaagaacaggacctt	12	8	10	11	0	0	4	0	1	0	3	2	5	2	5	4	3	1	0	4	3	3	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:37687203C>T	uc010cvv.3	+	13	4693	c.4107C>T	c.(4105-4107)acC>acT	p.T1369T	CDK12_uc002hrw.4_Silent_p.T1360T	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	1369					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TGGTCCAGACCCTGGTGAAGA	0.552			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			T	37687203	C	T	37687203	2	4	56	1	0	0	0	0	0	0	0	1	3158	610	22	2		2	CDK12	17	37687203	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08		37687203	43508007	90	3539											
KRT222	125113	broad.mit.edu	37	chr17	38812778	38812778	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccttcatcagtggctgctAaatgaagatcaaatcgaaga	15	9	8	9	1	3	3	3	1	0	2	4	4	3	3	1	1	1	2	1	1	5	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:38812778A>C	uc002hvc.2	-	5	829	c.764T>G	c.(763-765)tTa>tGa	p.L255*	KRT222_uc002hvb.2_Nonsense_Mutation_p.L215*	NM_152349	NP_689562	Q8N1A0	KT222_HUMAN	Homo sapiens keratin 222 (KRT222), mRNA.	255						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						AGTGGCTGCTAAATGAAGATC	0.378													C	38812778	A	C	38812778	4	2	56	1	0	0	0	0	0	1	0	0	8517	372	13	5	127	5	KRT222	17	38812778	Nonsense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	1125575	38812778	42382432	91	3540											
BRCA1	672	broad.mit.edu	37	chr17	41244603	41244603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacttgatgggaaaaagtGgtggtatacgatatgggttt	12	13	14	2	1	0	2	0	2	0	0	0	4	0	3	0	4	1	2	0	4	5	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:41244603G>A	uc002icq.3	-	9	3177	c.2945C>T	c.(2944-2946)cCa>cTa	p.P982L	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.P911L|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.P935L|BRCA1_uc002ict.3_Missense_Mutation_p.P982L|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.P982L|BRCA1_uc002ide.1_Missense_Mutation_p.P813L|BRCA1_uc010cyy.1_Missense_Mutation_p.P982L|BRCA1_uc010whs.1_Missense_Mutation_p.P982L|BRCA1_uc010cyz.2_Missense_Mutation_p.P935L|BRCA1_uc010cza.2_Missense_Mutation_p.P956L|BRCA1_uc010wht.1_Missense_Mutation_p.P686L	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	982					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGGAAAAAGTGGTGGTATACG	0.368			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			A	41244603	G	A	41244603	3	1	56	1	0	0	0	0	1	0	0	0	1507	1348	47	2	2772	2	BRCA1	17	41244603	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	2431825	41244603	39950607	92	3541											
DCAF7	10238	broad.mit.edu	37	chr17	61657190	61657190	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggttgtttgcaggtacCtcaagcattgatacgacatg	10	12	10	9	1	1	1	1	1	0	0	1	2	1	1	1	2	4	5	1	2	3	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:61657190C>A	uc002jbc.3	+	3	631	c.414C>A	c.(412-414)acC>acA	p.T138T	DCAF7_uc002jbb.3_Non-coding_Transcript|DCAF7_uc010wpn.2_Intron	NM_005828	NP_005819	P61962	DCAF7_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 7 (DCAF7), mRNA.	138					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						TTGCAGGTACCTCAAGCATTG	0.562													A	61657190	C	A	61657190	2	1	56	1	0	0	0	0	0	0	0	1	4309	668	24	4		4	DCAF7	17	61657190	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	20412587	61657190	19538020	93	3542											
KPNA2	3838	broad.mit.edu	37	chr17	66033587	66033587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgatgctacttctccGctgcaggaaaaccgcaacaa	12	8	8	13	2	1	2	0	2	1	0	2	3	1	3	3	1	5	4	3	1	5	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:66033587G>A	uc002jgk.3	+	2	321	c.189G>A	c.(187-189)ccG>ccA	p.P63P	KPNA2_uc002jgl.3_Silent_p.P63P	NM_002266	NP_002257	P52292	IMA2_HUMAN	Homo sapiens karyopherin alpha 2 (RAG cohort 1, importin alpha 1) (KPNA2), mRNA.	63					DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CTACTTCTCCGCTGCAGGAAA	0.398													A	66033587	G	A	66033587	2	1	56	1	0	0	0	0	0	0	0	1	8488	1074	38	1		1	KPNA2	17	66033587	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	4376397	66033587	15161623	94	3543											
MGAT5B	146664	broad.mit.edu	37	chr17	74900424	74900424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcatctacctcagtgagGtcgagtggttctgccccccg	5	11	10	15	2	4	1	2	1	2	0	6	2	5	1	5	2	2	1	5	2	1	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:74900424G>A	uc002jti.3	+	4	746	c.643G>A	c.(643-645)Gtc>Atc	p.V215I	MGAT5B_uc002jth.3_Missense_Mutation_p.V204I	NM_198955	NP_945193	Q3V5L5	MGT5B_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B (MGAT5B), transcript variant 2, mRNA.	204						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTCAGTGAGGTCGAGTGGTT	0.662													A	74900424	G	A	74900424	3	1	56	1	0	0	0	0	1	0	0	0	9624	1261	44	2	733	2	MGAT5B	17	74900424	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	8866837	74900424	6294786	95	3544											
ENGASE	64772	broad.mit.edu	37	chr17	77081816	77081816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggcttggagagatccaGgtgatgcttcccagaggggc	7	9	16	9	1	0	3	0	1	0	2	3	5	2	4	2	5	1	2	2	5	0	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr17:77081816G>A	uc002jwv.3	+	13	1823	c.1815_splice	c.e13+1	p.Q605_splice	ENGASE_uc002jww.3_Splice_Site_p.Q310_splice	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	605						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGAGATCCAGGTGATGCTTC	0.677													A	77081816	G	A	77081816	2	1	56	1	0	0	0	0	0	0	0	1	5159	1014	35	2		2	ENGASE	17	77081816	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	2181392	77081816	4113394	96	3545											
SMCHD1	23347	broad.mit.edu	37	chr18	2705783	2705783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagaagtatatgctacagGaggagaggttcaaattgcaa	15	9	13	4	0	1	2	1	0	0	2	1	5	1	3	0	4	3	4	0	4	6	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:2705783G>T	uc002klm.4	+	13	2123	c.1934G>T	c.(1933-1935)gGa>gTa	p.G645V	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	645					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATGCTACAGGAGGAGAGGTT	0.333													T	2705783	G	T	2705783	3	4	56	1	0	0	0	0	1	0	0	0	14882	1174	41	4	1988	4	SMCHD1	18	2705783	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		2705783	75371465	97	3546											
DSC1	1823	broad.mit.edu	37	chr18	28710546	28710546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctagaaactccagtccCtcttcttcctgccgatcgct	7	13	6	15	2	3	2	0	1	3	1	7	3	6	2	4	0	2	1	4	0	2	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:28710546C>T	uc002kwn.3	-	15	2878	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E	DSC1_uc002kwm.3_3'UTR|BC042382_uc002kwo.1_5'Flank	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	872					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACTCCAGTCCCTCTTCTTCCT	0.423													T	28710546	C	T	28710546	2	4	56	1	0	0	0	0	0	0	0	1	4804	680	24	2		2	DSC1	18	28710546	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	26004763	28710546	49366702	98	3547											
DOK6	220164	broad.mit.edu	37	chr18	67345078	67345078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggccgcaggagtgcagcGggaacagaatggtaggtgtg	9	7	18	7	2	1	1	0	0	1	1	1	3	1	3	1	5	3	3	1	5	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr18:67345078G>A	uc002lkl.3	+	3	595	c.398G>A	c.(397-399)cGg>cAg	p.R133Q		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	133	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GGAGTGCAGCGGGAACAGAAT	0.517													A	67345078	G	A	67345078	3	1	56	1	0	0	0	0	1	0	0	0	4740	1116	39	1	412	1	DOK6	18	67345078	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	38634532	67345078	10732170	99	3548											
C3	718	broad.mit.edu	37	chr19	6677935	6677935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgctctcggtgaaggcGccgaggtcctggcattgttt	6	11	13	11	3	1	1	0	1	1	0	3	2	2	1	3	4	1	3	3	4	1	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:6677935G>A	uc002mfm.3	-	40	5012	c.4950C>T	c.(4948-4950)ggC>ggT	p.G1650G		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1650	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.G1650C(1)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CGGTGAAGGCGCCGAGGTCCT	0.562													A	6677935	G	A	6677935	2	1	56	1	0	0	0	0	0	0	0	1	2225	1074	38	1		1	C3	19	6677935	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08		6677935	52451048	100	3549											
ZNF358	140467	broad.mit.edu	37	chr19	7584719	7584719	+	Frame_Shift_Del	DEL	C	C	-																															ggtgccaccctggctcagcaCcgtggcatccacactggggc																										TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:7584719delC	uc002mgn.2	+	1	761	c.591delC	c.(589-591)cacfs	p.H197fs	ZNF358_uc021unu.1_Frame_Shift_Del_p.H197fs|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	197					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TGGCTCAGCACCGTGGCATCC	0.711													-	7584719	C	-	7584719	7	5	56	1	0	1	0	1	0	0	0	0	17968	506	18	0	593	0	ZNF358	19	7584719	Frame_Shift_Del	DEL	C	TCGA-06-0649-01B-01W-0348-08	906784	7584719	51544264	101	3550											
MRI1	84245	broad.mit.edu	37	chr19	13876915	13876915	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtaacactggtgctctGgccaccgctggctatggtac	7	10	11	13	1	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	3	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:13876915G>C	uc002mxe.3	+	2	585	c.519G>C	c.(517-519)ctG>ctC	p.L173L	MRI1_uc002mxf.3_Intron	NM_001031727	NP_001026897	Q9BV20	MTNA_HUMAN	Homo sapiens methylthioribose-1-phosphate isomerase homolog (S. cerevisiae) (MRI1), transcript variant 1, mRNA.	173					L-methionine salvage from methylthioadenosine	cell projection|cytoplasm|nucleus	identical protein binding|S-methyl-5-thioribose-1-phosphate isomerase activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						CTGGTGCTCTGGCCACCGCTG	0.602													C	13876915	G	C	13876915	2	2	56	1	0	0	0	0	0	0	0	1	9846	1335	47	4		4	MRI1	19	13876915	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	6292196	13876915	45252068	102	3551											
ZNF461	92283	broad.mit.edu	37	chr19	37129609	37129609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacctgactggcttctcGccagtatgaagagtctgatg	10	10	12	9	1	2	4	0	3	2	1	3	5	2	5	2	2	1	2	2	2	3	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:37129609G>A	uc002oem.3	-	5	1866	c.1638C>T	c.(1636-1638)ggC>ggT	p.G546G	ZNF461_uc002oen.3_Silent_p.G515G|ZNF461_uc010xtj.2_Silent_p.G523G	NM_153257	NP_694989	Q8TAF7	ZN461_HUMAN	Homo sapiens zinc finger protein 461 (ZNF461), mRNA.	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(17)|prostate(1)|urinary_tract(2)	29	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			CTGGCTTCTCGCCAGTATGAA	0.388													A	37129609	G	A	37129609	2	1	56	1	0	0	0	0	0	0	0	1	18026	1074	38	1		1	ZNF461	19	37129609	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	23252694	37129609	21999374	103	3552											
CATSPERG	57828	broad.mit.edu	37	chr19	38861189	38861189	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagctagcgtgtttgtgggCctggtgatcttctacatcgc	5	14	12	10	2	3	1	1	1	2	0	4	1	3	1	1	2	3	2	1	2	2	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:38861189C>T	uc002oih.4	+	28	3324	c.3237C>T	c.(3235-3237)ggC>ggT	p.G1079G	CATSPERG_uc002oig.4_Silent_p.G1039G|CATSPERG_uc002oif.4_Silent_p.G719G|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	1079					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TGTTTGTGGGCCTGGTGATCT	0.522													T	38861189	C	T	38861189	2	4	56	1	0	0	0	0	0	0	0	1	2718	726	26	2		2	CATSPERG	19	38861189	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	1731580	38861189	20267794	104	3553											
ZNF28	7576	broad.mit.edu	37	chr19	53303202	53303202	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcattacacttgtaaggtttCtctccagtatgaagcctacg	10	14	7	10	1	2	1	1	1	1	0	4	1	3	1	2	1	3	3	2	1	5	6			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53303202C>G	uc002qad.3	-	3	2053	c.1896G>C	c.(1894-1896)gaG>gaC	p.E632D	ZNF28_uc002qac.3_Missense_Mutation_p.E578D|ZNF28_uc010eqe.3_Missense_Mutation_p.E578D|ZNF28_uc021uza.1_Missense_Mutation_p.E579D	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	632					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TGTAAGGTTTCTCTCCAGTAT	0.433													G	53303202	C	G	53303202	3	3	56	1	0	0	0	0	1	0	0	0	17914	912	32	4	264	4	ZNF28	19	53303202	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	14442013	53303202	5825781	105	3554			1	7		3	3	1098	C		9.617218e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304215	53304215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattcataaggtttgtctgCagtatgaagcgccttgtgaa	11	13	10	7	1	2	2	1	2	1	0	2	2	2	2	1	1	2	3	1	1	4	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304215C>T	uc002qad.3	-	3	1040	c.883G>A	c.(883-885)Gca>Aca	p.A295T	ZNF28_uc002qac.3_Missense_Mutation_p.A241T|ZNF28_uc010eqe.3_Missense_Mutation_p.A241T|ZNF28_uc021uza.1_Missense_Mutation_p.A242T	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTGTCTGCAGTATGAAGC	0.388													T	53304215	C	T	53304215	3	4	56	1	0	0	0	0	1	0	0	0	17914	710	25	2	1277	2	ZNF28	19	53304215	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1013	53304215	5824768	106	3555			1	7		3	3	1098	C		9.617218e-06
ZNF28	7576	broad.mit.edu	37	chr19	53304299	53304299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacttgtaaggtttctcatCaatgtgagatctacgatggc	11	13	9	8	1	3	1	2	1	2	1	4	3	3	1	0	2	1	2	0	2	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:53304299C>G	uc002qad.3	-	3	956	c.799G>C	c.(799-801)Gat>Cat	p.D267H	ZNF28_uc002qac.3_Missense_Mutation_p.D213H|ZNF28_uc010eqe.3_Missense_Mutation_p.D213H|ZNF28_uc021uza.1_Missense_Mutation_p.D214H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	267					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GGTTTCTCATCAATGTGAGAT	0.398													G	53304299	C	G	53304299	3	3	56	1	0	0	0	0	1	0	0	0	17914	826	29	4	1361	4	ZNF28	19	53304299	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	84	53304299	5824684	107	3556			1	7		3	3	1098	C		9.617218e-06
LILRB3	11025	broad.mit.edu	37	chr19	54746595	54746595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggctgtgagggcgggCgtcatggcgtctccttccgg	4	8	18	11	4	2	1	1	1	1	0	4	1	3	1	2	5	1	2	2	5	0	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:54746595C>T	uc010erh.1	-	0	130	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRB3_uc002qew.2_Intron|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Silent_p.T2T|LILRB3_uc002qeh.1_Silent_p.T2T|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Silent_p.T2T|LILRB3_uc002qek.1_Silent_p.T2T|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Silent_p.T2T|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Silent_p.T2T|LILRB3_uc002qep.1_Silent_p.T2T|LILRB3_uc002qeq.1_Silent_p.T2T|LILRB3_uc010yep.1_Silent_p.T2T|LILRB3_uc010yeq.1_Silent_p.T2T|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Silent_p.T2T|LILRB3_uc002qev.1_5'Flank	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	2					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647													T	54746595	C	T	54746595	2	4	56	1	0	0	0	0	0	0	0	1	8852	755	27	1		1	LILRB3	19	54746595	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	1442296	54746595	4382388	108	3557											
NLRP7	199713	broad.mit.edu	37	chr19	55449588	55449588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcctgccgagcccagttCggaatggttaggtaagtgca	10	9	13	9	2	0	1	0	0	0	1	2	3	1	2	3	3	3	4	3	3	3	3			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:55449588C>T	uc002qih.4	-	4	2029	c.1953G>A	c.(1951-1953)ccG>ccA	p.P651P	NLRP7_uc010esk.3_Silent_p.P651P|NLRP7_uc002qig.4_Intron|NLRP7_uc002qii.4_Silent_p.P651P|NLRP7_uc010esl.3_Silent_p.P679P	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	651			P -> S (in HYDM).				ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGCCCAGTTCGGAATGGTTA	0.488													T	55449588	C	T	55449588	2	4	56	1	0	0	0	0	0	0	0	1	10558	871	31	1		1	NLRP7	19	55449588	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	702993	55449588	3679395	109	3558											
PEG3	5178	broad.mit.edu	37	chr19	57335864	57335864	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcccaacaaattccacatAgattaggttccgaaacctct	14	9	6	12	1	1	1	0	0	1	1	3	2	3	1	4	2	2	1	4	2	5	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr19:57335864A>T	uc002qnu.2	-	0	511	c.160T>A	c.(160-162)Tat>Aat	p.Y54N	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_5'UTR|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.Y54N|PEG3_uc002qnv.2_Missense_Mutation_p.Y54N|PEG3_uc002qnw.2_Intron|PEG3_uc002qnx.2_Intron|PEG3_uc010etr.2_Missense_Mutation_p.Y54N	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	54	SCAN box.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AATTCCACATAGATTAGGTTC	0.498													T	57335864	A	T	57335864	3	4	56	1	0	0	0	0	1	0	0	0	11796	420	15	5		5	PEG3	19	57335864	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	1886276	57335864	1793119	110	3559											
UMODL1	89766	broad.mit.edu	37	chr21	43519135	43519135	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaccacactttccatgTccgggtttaccggggtatgg	9	10	11	11	2	0	1	0	0	0	1	2	1	2	1	4	4	2	2	4	4	3	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr21:43519135T>G	uc002zag.1	+	6	1031	c.1031T>G	c.(1030-1032)gTc>gGc	p.V344G	UMODL1_uc002zad.1_Missense_Mutation_p.V272G|UMODL1_uc002zae.1_Missense_Mutation_p.V272G|UMODL1_uc002zaf.1_Missense_Mutation_p.V344G|UMODL1_uc010gow.1_Missense_Mutation_p.V136G|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.V89G	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	344	Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						ACTTTCCATGTCCGGGTTTAC	0.547													G	43519135	T	G	43519135	3	3	56	1	0	0	0	0	1	0	0	0	17082	1667	58	5	1057	5	UMODL1	21	43519135	Missense_Mutation	SNP	T	TCGA-06-0649-01B-01W-0348-08		43519135	4610760	111	3560											
DGCR2	9993	broad.mit.edu	37	chr22	19044577	19044577	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcgtggtgccgcagggtggGgaaatggaagcactgaagct	9	7	18	7	2	0	1	0	1	0	0	1	3	0	3	1	5	3	3	1	5	3	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:19044577G>C	uc002zoq.1	-	5	972	c.724C>G	c.(724-726)Ccc>Gcc	p.P242A	DGCR2_uc021wkx.1_Missense_Mutation_p.P239A|DGCR2_uc021wky.1_Missense_Mutation_p.P201A|DGCR2_uc021wkz.1_Missense_Mutation_p.P18A|DGCR2_uc011agr.1_Missense_Mutation_p.P198A|DGCR2_uc002zor.1_Missense_Mutation_p.P18A	NM_005137	NP_005128	P98153	IDD_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 2 (DGCR2), transcript variant 1, mRNA.	242					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CGCAGGGTGGGGAAATGGAAG	0.572													C	19044577	G	C	19044577	3	2	56	1	0	0	0	0	1	0	0	0	4500	1232	43	4	948	4	DGCR2	22	19044577	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		19044577	32259989	112	3561											
CACNA1I	8911	broad.mit.edu	37	chr22	39966921	39966921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccacacccagacctggCgcctattgccttcttctgcc	5	11	7	18	1	2	1	0	0	2	1	3	1	3	1	6	1	2	0	6	1	1	4			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chr22:39966921C>T	uc003ayc.3	+	0	164	c.164C>T	c.(163-165)gCg>gTg	p.A55V	CACNA1I_uc003ayd.3_Missense_Mutation_p.A55V	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	55					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCAGACCTGGCGCCTATTGCC	0.657													T	39966921	C	T	39966921	3	4	56	1	0	0	0	0	1	0	0	0	2572	768	27	1	166	1	CACNA1I	22	39966921	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	20922344	39966921	11337645	113	3562											
DDX53	168400	broad.mit.edu	37	chrX	23019452	23019452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatttgaaagatcctatGattgtttatgttggtaatct	10	20	7	4	0	2	3	0	2	2	1	3	3	3	3	1	1	0	3	1	1	5	8			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:23019452G>T	uc004daj.3	+	0	1375	c.1278G>T	c.(1276-1278)atG>atT	p.M426I		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	426	Helicase ATP-binding.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						AAGATCCTATGATTGTTTATG	0.373													T	23019452	G	T	23019452	3	4	56	1	0	0	0	0	1	0	0	0	4405	1290	45	4	1280	4	DDX53	23	23019452	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08		23019452	132251108	114	3563											
PIM2	11040	broad.mit.edu	37	chrX	48775821	48775821	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgacggatacctggagtcGatctgtgaggcggtgtcctg	7	10	15	9	3	1	2	0	2	1	0	3	5	2	4	2	4	1	0	2	4	1	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:48775821G>A	uc004dls.3	-	1	465	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	55	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						ACCTGGAGTCGATCTGTGAGG	0.652													A	48775821	G	A	48775821	4	1	56	1	0	0	0	0	0	1	0	0	12005	1066	37	1	792	1	PIM2	23	48775821	Nonsense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	25756369	48775821	106494739	115	3564											
CSTF2	1478	broad.mit.edu	37	chrX	100075410	100075410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactcaacagagctatggCgggtttgactgtgagagacc	10	8	13	10	2	1	4	1	2	0	2	1	6	1	4	2	2	2	2	2	2	2	2			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:100075410C>T	uc004egh.3	+	0	63	c.5C>T	c.(4-6)gCg>gTg	p.A2V	CSTF2_uc010nnd.3_Missense_Mutation_p.A2V|CSTF2_uc004egi.3_Missense_Mutation_p.A2V	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	2					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGCTATGGCGGGTTTGACT	0.597													T	100075410	C	T	100075410	3	4	56	1	0	0	0	0	1	0	0	0	4017	768	27	1	7	1	CSTF2	23	100075410	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	51299589	100075410	55195150	116	3565											
BCORL1	63035	broad.mit.edu	37	chrX	129155121	129155121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacgagccgacagccacgaGgaaggtaggccccgcggccc	11	1	14	15	5	0	0	0	0	0	0	0	4	0	1	5	4	3	1	5	4	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129155121G>A	uc022cdu.1	+	3	3647	c.3603G>A	c.(3601-3603)gaG>gaA	p.E1201E	BCORL1_uc010nrd.1_Silent_p.E1103E	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1201					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACAGCCACGAGGAAGGTAGGC	0.637													A	129155121	G	A	129155121	2	1	56	1	0	0	0	0	0	0	0	1	1392	991	35	2		2	BCORL1	23	129155121	Silent	SNP	G	TCGA-06-0649-01B-01W-0348-08	29079711	129155121	26115439	117	3566											
SLC25A14	9016	broad.mit.edu	37	chrX	129506901	129506901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttttattacatacgagCagctaaagaggcttcaaatc	14	13	7	7	1	1	1	1	0	0	1	2	2	1	1	0	1	4	4	0	1	6	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:129506901C>A	uc004evr.1	+	10	1211	c.1039C>A	c.(1039-1041)Cag>Aag	p.Q347K	SLC25A14_uc004evp.1_Missense_Mutation_p.Q319K|SLC25A14_uc004evq.1_Missense_Mutation_p.Q316K	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	319					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TACATACGAGCAGCTAAAGAG	0.398													A	129506901	C	A	129506901	3	1	56	1	0	0	0	0	1	0	0	0	14570	711	25	4	993	4	SLC25A14	23	129506901	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	351780	129506901	25763659	118	3567											
FRMD7	90167	broad.mit.edu	37	chrX	131214270	131214270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttttctcccatattcCaaaagttgcctttgggttcg	6	16	6	13	1	1	0	0	0	1	0	5	0	3	0	4	1	1	2	4	1	3	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:131214270C>A	uc004ewn.3	-	9	1108	c.930G>T	c.(928-930)ttG>ttT	p.L310F	FRMD7_uc022cdy.1_Missense_Mutation_p.L190F|FRMD7_uc011muy.2_Missense_Mutation_p.L295F	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	310					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TCCCATATTCCAAAAGTTGCC	0.373													A	131214270	C	A	131214270	3	1	56	1	0	0	0	0	1	0	0	0	6107	593	21	4	1226	4	FRMD7	23	131214270	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	1707369	131214270	24056290	119	3568											
SPANXN3	139067	broad.mit.edu	37	chrX	142596854	142596854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggagttctcttgggaCtgttcattctccagttgatt	6	18	10	7	0	3	2	1	2	2	0	5	4	3	4	1	2	0	3	1	2	0	7			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142596854C>T	uc004fbw.3	-	1	304	c.216G>A	c.(214-216)caG>caA	p.Q72Q		NM_001009609	NP_001009609	Q5MJ09	SPXN3_HUMAN	Homo sapiens SPANX family, member N3 (SPANXN3), mRNA.	72										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCTTGGGACTGTTCATTCT	0.388													T	142596854	C	T	142596854	2	4	56	1	0	0	0	0	0	0	0	1	15088	564	20	2		2	SPANXN3	23	142596854	Silent	SNP	C	TCGA-06-0649-01B-01W-0348-08	11382584	142596854	12673706	120	3569											
UBE2NL	389898	broad.mit.edu	37	chrX	142967366	142967366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggagggacttttaaacGtgaactattacttgcagaag	13	11	12	5	1	0	3	0	2	0	1	0	5	0	5	0	2	4	1	0	2	6	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967366G>A	uc004fca.3	+	0	194	c.164G>A	c.(163-165)cGt>cAt	p.R55H		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	55							acid-amino acid ligase activity	p.R55H(2)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTTAAACGTGAACTATTA	0.418													A	142967366	G	A	142967366	3	1	56	1	0	0	0	0	1	0	0	0	16969	1145	40	1	166	1	UBE2NL	23	142967366	Missense_Mutation	SNP	G	TCGA-06-0649-01B-01W-0348-08	370512	142967366	12303194	121	3570											
UBE2NL	389898	broad.mit.edu	37	chrX	142967428	142967428	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtacgtttcatgaccaaaAtttatcatccaaatgtagac	16	12	5	8	1	2	2	2	1	0	1	3	2	3	2	2	0	1	3	2	0	7	5			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:142967428A>G	uc004fca.3	+	0	256	c.226A>G	c.(226-228)Att>Gtt	p.I76V		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	76							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CATGACCAAAATTTATCATCC	0.408													G	142967428	A	G	142967428	3	3	56	1	0	0	0	0	1	0	0	0	16969	101	4	3	228	3	UBE2NL	23	142967428	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	62	142967428	12303132	122	3571											
IRAK1	3654	broad.mit.edu	37	chrX	153278845	153278845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgaatgcccgggcacccCcgccaccactgcctgcagct	6	5	9	21	3	0	0	0	0	0	0	1	1	1	0	7	1	4	3	7	1	1	0			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:153278845C>T	uc004fjs.1	-	11	1658	c.1579G>A	c.(1579-1581)Ggg>Agg	p.G527R	IRAK1_uc004fjr.1_Intron|IRAK1_uc004fjt.1_Missense_Mutation_p.G448R	NM_001569	NP_001560	P51617	IRAK1_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 1 (IRAK1), transcript variant 1, mRNA.	527					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGCACCCCCGCCACCACT	0.667													T	153278845	C	T	153278845	3	4	56	1	0	0	0	0	1	0	0	0	7879	623	22	2	571	2	IRAK1	23	153278845	Missense_Mutation	SNP	C	TCGA-06-0649-01B-01W-0348-08	10311417	153278845	1991715	123	3572											
F8	2157	broad.mit.edu	37	chrX	154225292	154225292	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaacagcatgaagactgAcaggatgggaagccatgttc	14	6	11	10	0	0	3	0	2	0	1	1	5	0	5	2	2	3	2	2	2	3	1			TCGA-06-0649-01B-01W-0348-08	TCGA-06-0649-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27af6a5f-993d-41f0-a9af-65e5a8cc41d4	626b3d9d-1fa3-4117-a1f9-e4e7d7182617	g.chrX:154225292A>T	uc004fmt.3	-	2	515	c.344T>A	c.(343-345)gTc>gAc	p.V115D	F8_uc011mzx.1_Missense_Mutation_p.V80D	NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	115	F5/8 type A 1.|Plastocyanin-like 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ATGAAGACTGACAGGATGGGA	0.448													T	154225292	A	T	154225292	3	4	56	1	0	0	0	0	1	0	0	0	5392	275	10	5	6835	5	F8	23	154225292	Missense_Mutation	SNP	A	TCGA-06-0649-01B-01W-0348-08	946447	154225292	1045268	124	3573											
CPSF3L	54973	broad.mit.edu	37	chr1	1249704	1249704	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtctccaggaggatgcaGagctcctgggcgcggcccag	8	5	16	12	2	1	1	0	0	1	1	3	3	2	3	3	5	2	2	3	5	1	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:1249704G>C	uc001aef.1	-	9	1275	c.762C>G	c.(760-762)ctC>ctG	p.L254L	CPSF3L_uc009vjy.1_Non-coding_Transcript|CPSF3L_uc001aee.1_Silent_p.L248L|CPSF3L_uc009vjz.1_Silent_p.L226L|CPSF3L_uc010nyj.1_Silent_p.L219L|CPSF3L_uc001aeg.1_Silent_p.L124L|CPSF3L_uc001aeh.1_Silent_p.L147L|CPSF3L_uc001aei.1_Silent_p.L150L|CPSF3L_uc001aek.1_5'UTR			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	248						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		GGAGGATGCAGAGCTCCTGGG	0.667													C	1249704	G	C	1249704	2	2	57	1	0	0	0	0	0	0	0	1	3858	929	33	4		4	CPSF3L	1	1249704	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08		1249704	248000917	1	3574											
THEM5	284486	broad.mit.edu	37	chr1	151820732	151820732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttttagaaaaggtctcGtccatcatggctgccaggga	10	10	12	9	1	2	1	1	0	1	1	4	2	3	2	2	3	1	3	2	3	3	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr1:151820732G>A	uc021oyw.1	-	3	633	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	167							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587													A	151820732	G	A	151820732	2	1	57	1	0	0	0	0	0	0	0	1	15959	1136	40	1		1	THEM5	1	151820732	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	150571028	151820732	97429889	2	3575											
HNRPLL	92906	broad.mit.edu	37	chr2	38812883	38812883	+	Frame_Shift_Del	DEL	C	C	-																															ctggccgagtgatccttttgCttgtagaatagttgaaaaaa																										TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:38812883delC	uc021vgc.1	-	2	859	c.449delG	c.(448-450)agcfs	p.S150fs	HNRPLL_uc021vgb.1_Frame_Shift_Del_p.S145fs	NM_138394	NP_612403	Q8WVV9	HNRLL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein L-like (HNRPLL), transcript variant 1, mRNA.	150	RRM 1.				mRNA processing|positive regulation of RNA splicing	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(2)	10		all_hematologic(82;0.248)				GATCCTTTTGCTTGTAGAATA	0.408													-	38812883	C	-	38812883	7	5	57	1	0	1	0	1	0	0	0	0	7332	797	28	0	1223	0	HNRPLL	2	38812883	Frame_Shift_Del	DEL	C	TCGA-06-0650-01A-02D-1696-08		38812883	204386490	3	3576											
C2orf89	129293	broad.mit.edu	37	chr2	85051124	85051124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaattgccggagtcgcggCctccgctgtgaccgcctccg	4	8	13	16	6	0	2	0	2	0	0	3	3	2	3	6	2	1	1	6	2	1	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr2:85051124C>A	uc010ysl.2	-	5	1376	c.1287G>T	c.(1285-1287)agG>agT	p.R429S	C2orf89_uc002sou.4_Missense_Mutation_p.R380S	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	429						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						GGAGTCGCGGCCTCCGCTGTG	0.652													A	85051124	C	A	85051124	3	1	57	1	0	0	0	0	1	0	0	0	2224	738	26	4	238	4	C2orf89	2	85051124	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	46238241	85051124	158148249	4	3577											
CASR	846	broad.mit.edu	37	chr3	121976021	121976021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcccaacttgacgctGggatacaggatatttgacac	10	12	8	11	1	1	2	0	2	1	0	2	4	2	4	1	2	2	1	1	2	3	6			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr3:121976021G>A	uc003eew.4	+	2	717	c.279G>A	c.(277-279)ctG>ctA	p.L93L	CASR_uc003eev.4_Silent_p.L93L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	93					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.T92M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	ACTTGACGCTGGGATACAGGA	0.448													A	121976021	G	A	121976021	2	1	57	1	0	0	0	0	0	0	0	1	2708	1335	47	2		2	CASR	3	121976021	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08		121976021	76046409	5	3578											
RBM47	54502	broad.mit.edu	37	chr4	40440364	40440364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccgcgctggcgtagaCgatcacgtccagcacgccct	6	6	13	16	7	1	1	1	0	0	1	3	2	2	1	3	2	1	3	3	2	1	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:40440364C>T	uc003gvc.2	-	3	1257	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	RBM47_uc003gvd.2_Missense_Mutation_p.V183I|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V145I|RBM47_uc003gvg.1_Missense_Mutation_p.V183I	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	183	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGGCGTAGACGATCACGTCC	0.637													T	40440364	C	T	40440364	3	4	57	1	0	0	0	0	1	0	0	0	13229	536	19	1	1250	1	RBM47	4	40440364	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		40440364	150713912	6	3579											
CSN1S1	1446	broad.mit.edu	37	chr4	70810660	70810660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctttcccaccgttttcCgacatctccaatcccactgc	6	13	4	18	2	1	0	0	0	1	0	6	1	5	0	6	0	1	2	6	0	1	4			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:70810660C>T	uc003hep.1	+	14	544	c.495C>T	c.(493-495)tcC>tcT	p.S165S	CSN1S1_uc003heq.1_Silent_p.S156S|CSN1S1_uc003her.1_Silent_p.S157S	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	165						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						CACCGTTTTCCGACATCTCCA	0.423													T	70810660	C	T	70810660	2	4	57	1	0	0	0	0	0	0	0	1	3980	639	23	1		1	CSN1S1	4	70810660	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08	30370296	70810660	120343616	7	3580											
FRAS1	80144	broad.mit.edu	37	chr4	79396642	79396642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcacggtgcagaggaCtgggaacctgaaccaatatg	12	7	13	9	1	1	2	1	1	0	1	1	4	1	4	2	3	3	1	2	3	4	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr4:79396642C>T	uc003hlb.2	+	53	8173	c.7733C>T	c.(7732-7734)aCt>aTt	p.T2578I		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2577	Calx-beta 1.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R2578K(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGCAGAGGACTGGGAACCTG	0.542													T	79396642	C	T	79396642	3	4	57	1	0	0	0	0	1	0	0	0	6093	565	20	2	8022	2	FRAS1	4	79396642	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	8585982	79396642	111757634	8	3581											
ABLIM3	22885	broad.mit.edu	37	chr5	148637907	148637907	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcatgaccatctctgaGtttgaccggctggccctctg	5	13	11	12	1	2	3	0	3	2	0	3	3	2	3	3	3	0	3	3	3	0	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr5:148637907G>C	uc003lpy.2	+	23	2243	c.1992G>C	c.(1990-1992)gaG>gaC	p.E664D	ABLIM3_uc003lpz.1_Missense_Mutation_p.E664D|ABLIM3_uc003lqa.1_Missense_Mutation_p.E561D|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Missense_Mutation_p.E631D|ABLIM3_uc003lqd.1_Missense_Mutation_p.E569D|ABLIM3_uc003lqe.1_Missense_Mutation_p.E553D|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	664	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATCTCTGAGTTTGACCGGC	0.517													C	148637907	G	C	148637907	3	2	57	1	0	0	0	0	1	0	0	0	96	1020	36	4	2082	4	ABLIM3	5	148637907	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		148637907	32277353	9	3582											
LY6G6F	259215	broad.mit.edu	37	chr6	31675363	31675363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggctccttcaccaccCtggtagcccaagtccaagtg	9	7	9	16	0	1	0	1	0	0	0	3	0	3	0	5	2	2	3	5	2	3	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:31675363C>A	uc003nwb.1	+	1	181	c.181C>A	c.(181-183)Ctg>Atg	p.L61M	ABHD16A_uc011dnz.2_Intron|LY6G6F_uc003nwa.1_Missense_Mutation_p.L61M	NM_001003693	NP_001003693	Q5SQ64	LY66F_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6F (LY6G6F), mRNA.	61	Ig-like V-type.					integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	12						CTTCACCACCCTGGTAGCCCA	0.592													A	31675363	C	A	31675363	3	1	57	1	0	0	0	0	1	0	0	0	9167	680	24	4	187	4	LY6G6F	6	31675363	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		31675363	139439704	10	3583											
TBX18	9096	broad.mit.edu	37	chr6	85446758	85446758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagctggggggacattcccGaaatctgcatggataagctg	10	8	15	8	1	1	0	0	0	1	0	2	4	2	3	1	5	3	3	1	5	2	2			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:85446758G>A	uc003pkl.1	-	7	1469	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	490					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.S490S(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GGACATTCCCGAAATCTGCAT	0.527													A	85446758	G	A	85446758	3	1	57	1	0	0	0	0	1	0	0	0	15753	1059	37	1	358	1	TBX18	6	85446758	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	53771395	85446758	85668309	11	3584											
ASCC3	10973	broad.mit.edu	37	chr6	101037629	101037629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcggccataagttagaggttCaatgctgcgattatcctatt	10	14	9	8	2	1	1	1	0	0	1	3	2	2	1	2	2	2	3	2	2	5	6			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:101037629C>T	uc003pqk.3	-	35	5760	c.5431G>A	c.(5431-5433)Gaa>Aaa	p.E1811K		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTTAGAGGTTCAATGCTGCGA	0.343													T	101037629	C	T	101037629	3	4	57	1	0	0	0	0	1	0	0	0	1038	835	29	2	1205	2	ASCC3	6	101037629	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	15590871	101037629	70077438	12	3585											
PNLDC1	154197	broad.mit.edu	37	chr6	160240368	160240368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaggcactccccaaacGtcaactgcctgctccagtaa	11	7	8	15	1	1	0	1	0	0	0	3	1	3	1	4	2	4	3	4	2	3	1	rs138386704		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:160240368G>A	uc003qsy.1	+	17	1555	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	PNLDC1_uc003qsx.1_Missense_Mutation_p.V495I	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	495						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CTCCCCAAACGTCAACTGCCT	0.617													A	160240368	G	A	160240368	3	1	57	1	0	0	0	0	1	0	0	0	12225	1145	40	1	1549	1	PNLDC1	6	160240368	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	59202739	160240368	10874699	13	3586											
QKI	9444	broad.mit.edu	37	chr6	163956153	163956153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagaaattattggtacCtgcagtaagtaataatttcc	15	13	8	5	0	0	2	0	1	0	1	1	2	1	2	2	1	2	4	2	1	7	7			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr6:163956153C>G	uc003qui.3	+	3	1093	c.542C>G	c.(541-543)cCt>cGt	p.P181R	QKI_uc003quj.3_Missense_Mutation_p.P181R|QKI_uc003quh.3_Missense_Mutation_p.P181R|QKI_uc003que.3_Missense_Mutation_p.P181R|QKI_uc003quf.3_Missense_Mutation_p.P181R|QKI_uc003qug.3_Missense_Mutation_p.P181R	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	181					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TTATTGGTACCTGCAGTAAGT	0.333													G	163956153	C	G	163956153	3	3	57	1	0	0	0	0	1	0	0	0	12961	681	24	4	556	4	QKI	6	163956153	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	3715785	163956153	7158914	14	3587											
EGFR	1956	broad.mit.edu	37	chr7	55223531	55223533	+	In_Frame_Del	DEL	GTG	GTG	-																															tctcttccccaggtaattatGtggtgacagatcacggctcg																										TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55223531_55223533delGTG	uc003tqk.3	+	7	1144_1146	c.898_900delGTG	c.(898-900)gtgdel	p.V301del	EGFR_uc003tqh.3_In_Frame_Del_p.V301del|EGFR_uc003tqi.3_In_Frame_Del_p.V301del|EGFR_uc003tqj.3_In_Frame_Del_p.V301del|EGFR_uc022adm.1_In_Frame_Del_p.V301del|EGFR_uc010kzg.2_In_Frame_Del_p.V256del|EGFR_uc022adn.1_In_Frame_Del_p.V256del|EGFR_uc011kco.2_In_Frame_Del_p.V248del|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	301					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V301V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGGTAATTATGTGGTGACAGATC	0.601		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			-	55223533	GTG	-	55223531	7	5	57	1	0	1	0	1	0	0	0	0	5006	1377	48	0	928	0	EGFR	7	55223531	In_Frame_Del	DEL	GTG	TCGA-06-0650-01A-02D-1696-08		55223531	103915132	15	3588											
EGFR	1956	broad.mit.edu	37	chr7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcttgaggatcttgaagGaaactgaattcaaaaagatc	15	11	8	7	0	3	4	1	3	2	1	5	6	3	6	0	2	1	0	0	2	5	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241677G>A	uc003tqk.3	+	17	2371	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241677	G	A	55241677	3	1	57	1	0	0	0	0	1	0	0	0	5006	1175	41	2	2459	2	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	18146	55241677	103896986	16	3589			1	8		2	2	32	G		4.205779e-05
EGFR	1956	broad.mit.edu	37	chr7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaaagatcaaagtgctggGctccggtgcgttcggcacgg	10	7	14	10	4	1	1	1	0	0	1	3	1	2	1	1	4	2	4	1	4	3	1	rs121913428		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:55241708G>A	uc003tqk.3	+	17	2402	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_uc022adm.1_Missense_Mutation_p.G719D|EGFR_uc010kzg.2_Missense_Mutation_p.G674D|EGFR_uc022adn.1_Missense_Mutation_p.G674D|EGFR_uc011kco.2_Missense_Mutation_p.G666D	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719A(102)|p.G719S(74)|p.G719C(41)|p.G719?(25)|p.G719D(12)|p.L718P(3)|p.G719fs*29(2)|p.L718L(1)|p.G719V(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241708	G	A	55241708	3	1	57	1	0	0	0	0	1	0	0	0	5006	1203	42	2	2490	2	EGFR	7	55241708	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	31	55241708	103896955	17	3590			1	8		2	2	32	G		4.205779e-05
MUC17	140453	broad.mit.edu	37	chr7	100678917	100678917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacctgtcagcaccacgcCggtagtcagttctgaggcta	9	10	10	12	2	3	1	2	1	1	0	3	1	3	1	3	2	2	4	3	2	4	5			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:100678917C>T	uc003uxp.1	+	2	4273	c.4220C>T	c.(4219-4221)cCg>cTg	p.P1407L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1407	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)					AGCACCACGCCGGTAGTCAGT	0.512													T	100678917	C	T	100678917	3	4	57	1	0	0	0	0	1	0	0	0	10050	652	23	1	4230	1	MUC17	7	100678917	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	45437209	100678917	58459746	18	3591											
KCND2	3751	broad.mit.edu	37	chr7	120386073	120386073	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggagagaacacctctGtctaacaggtacctgagatt	11	11	11	8	0	2	2	0	1	2	2	2	5	2	3	2	2	3	1	2	2	3	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr7:120386073G>T	uc003vjj.1	+	4	2672	c.1707G>T	c.(1705-1707)ctG>ctT	p.L569L		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	569					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GAACACCTCTGTCTAACAGGT	0.443													T	120386073	G	T	120386073	2	4	57	1	0	0	0	0	0	0	0	1	8077	1364	48	4		4	KCND2	7	120386073	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	19707156	120386073	38752590	19	3592											
KCNB2	9312	broad.mit.edu	37	chr8	73848725	73848725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgggccaccatcaccAtgaccactgttggctatggt	7	12	11	11	0	1	1	1	1	0	0	1	1	1	1	4	4	0	2	4	4	1	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr8:73848725A>G	uc003xzb.3	+	2	1723	c.1135A>G	c.(1135-1137)Atg>Gtg	p.M379V		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	379					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CACCATCACCATGACCACTGT	0.448													G	73848725	A	G	73848725	3	3	57	1	0	0	0	0	1	0	0	0	8071	217	8	3	1141	3	KCNB2	8	73848725	Missense_Mutation	SNP	A	TCGA-06-0650-01A-02D-1696-08		73848725	72515297	20	3593											
PTPRD	5789	broad.mit.edu	37	chr9	8485910	8485910	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggaacaataagctgCtccatcgggagaagggggat	12	7	14	8	1	1	1	1	0	0	1	3	4	2	3	1	4	4	3	1	4	4	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr9:8485910C>T	uc003zkk.3	-	27	3650	c.2907G>A	c.(2905-2907)gaG>gaA	p.E969E	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	969	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CAATAAGCTGCTCCATCGGGA	0.468										TSP Lung(15;0.13)			T	8485910	C	T	8485910	2	4	57	1	0	0	0	0	0	0	0	1	12887	796	28	2		2	PTPRD	9	8485910	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08		8485910	132727521	21	3594											
MUC2	4583	broad.mit.edu	37	chr11	1096432	1096432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggagatcagcccctccGtggacaacttcggagtttac	9	9	12	11	2	1	1	1	0	0	1	3	5	2	4	3	4	3	1	3	4	2	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:1096432G>A	uc001lsx.1	+	35	6472	c.6445G>A	c.(6445-6447)Gtg>Atg	p.V2149M		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	4515						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAGCCCCTCCGTGGACAACTT	0.607													A	1096432	G	A	1096432	3	1	57	1	0	0	0	0	1	0	0	0	10051	1145	40	1	6583	1	MUC2	11	1096432	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		1096432	133910084	22	3595											
PTPRJ	5795	broad.mit.edu	37	chr11	48145364	48145364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcaatacaacatcaacccGtatcttctacaatcaaataa	17	11	2	11	1	5	0	3	0	2	0	5	0	5	0	1	0	4	2	1	0	9	6			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:48145364G>A	uc001ngp.4	+	4	1171	c.816G>A	c.(814-816)ccG>ccA	p.P272P	PTPRJ_uc001ngo.4_Silent_p.P272P	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	272	Fibronectin type-III 2.|Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACATCAACCCGTATCTTCTAC	0.473													A	48145364	G	A	48145364	2	1	57	1	0	0	0	0	0	0	0	1	12892	1132	40	1		1	PTPRJ	11	48145364	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	47048932	48145364	86861152	23	3596											
SPDYC	387778	broad.mit.edu	37	chr11	64939756	64939756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctacttccagcgcgccCacctgaagctcagcgagtat	8	9	10	14	3	2	1	1	1	1	0	3	2	3	1	3	1	4	2	3	1	3	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:64939756C>A	uc010rnz.2	+	3	298	c.298C>A	c.(298-300)Cac>Aac	p.H100N		NM_001008778	NP_001008778	Q5MJ68	SPDYC_HUMAN	Homo sapiens speedy homolog C (Xenopus laevis) (SPDYC), mRNA.	100	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CCAGCGCGCCCACCTGAAGCT	0.597													A	64939756	C	A	64939756	3	1	57	1	0	0	0	0	1	0	0	0	15124	594	21	4	312	4	SPDYC	11	64939756	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	16794392	64939756	70066760	24	3597											
INTS4	92105	broad.mit.edu	37	chr11	77632412	77632412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaggaacaagatgagaaaGactgtctcggaggtaggcat	14	6	15	6	1	1	3	0	1	1	3	2	6	1	5	0	5	1	3	0	5	4	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr11:77632412G>C	uc001oys.3	-	13	1766	c.1738C>G	c.(1738-1740)Ctt>Gtt	p.L580V	INTS4_uc001oyt.3_Non-coding_Transcript	NM_033547	NP_291025	Q96HW7	INT4_HUMAN	Homo sapiens integrator complex subunit 4 (INTS4), mRNA.	580					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			AGATGAGAAAGACTGTCTCGG	0.403													C	77632412	G	C	77632412	3	2	57	1	0	0	0	0	1	0	0	0	7838	942	33	4	1193	4	INTS4	11	77632412	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	12692656	77632412	57374104	25	3598											
PARP4	143	broad.mit.edu	37	chr13	25009059	25009059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagcagactgtgcagagCttaatgagctccctgaaaaa	13	8	12	8	0	0	4	0	2	0	2	1	5	1	5	1	1	4	4	1	1	3	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr13:25009059C>T	uc001upl.3	-	30	4326	c.4220G>A	c.(4219-4221)aGc>aAc	p.S1407N		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1407					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		CTGTGCAGAGCTTAATGAGCT	0.542													T	25009059	C	T	25009059	3	4	57	1	0	0	0	0	1	0	0	0	11539	797	28	2	970	2	PARP4	13	25009059	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		25009059	90160819	26	3599											
GABRB3	2562	broad.mit.edu	37	chr15	26792999	26792999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagtgaatggaaacaCgatcctggaccatctgtcta	16	8	9	8	1	2	2	0	1	2	1	3	5	3	4	2	2	1	0	2	2	5	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:26792999C>T	uc001zbb.3	-	9	1634	c.1531G>A	c.(1531-1533)Gtg>Atg	p.V511M	GABRB3_uc021sgg.1_Missense_Mutation_p.V384M|GABRB3_uc021sgh.1_Missense_Mutation_p.V370M|GABRB3_uc001zaz.3_Missense_Mutation_p.V455M|GABRB3_uc001zba.3_Missense_Mutation_p.V455M	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	455					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V455L(2)|p.V511L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AATGGAAACACGATCCTGGAC	0.398													T	26792999	C	T	26792999	3	4	57	1	0	0	0	0	1	0	0	0	6220	536	19	1	62	1	GABRB3	15	26792999	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		26792999	75738393	27	3600											
UNC13C	440279	broad.mit.edu	37	chr15	54305644	54305644	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttaaaactgggagctttaCgaaaactgagaaaatggaaa	18	8	10	5	1	0	1	0	1	0	1	0	5	0	3	0	2	4	2	0	2	8	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr15:54305644C>T	uc021smr.1	+	0	544	c.544C>T	c.(544-546)Cga>Tga	p.R182*	UNC13C_uc021sms.1_Nonsense_Mutation_p.R182*	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	182					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GGGAGCTTTACGAAAACTGAG	0.458													T	54305644	C	T	54305644	4	4	57	1	0	0	0	0	0	1	0	0	17088	528	19	1	546	1	UNC13C	15	54305644	Nonsense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	27512645	54305644	48225748	28	3601											
IRF8	3394	broad.mit.edu	37	chr16	85952286	85952286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggcagggcgtgttcGtcaagcggctgtgccagggc	5	6	18	12	4	1	0	1	0	0	0	2	0	1	0	2	4	3	4	2	4	1	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr16:85952286G>A	uc002fjh.3	+	6	922	c.865G>A	c.(865-867)Gtc>Atc	p.V289I		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	289					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGGCGTGTTCGTCAAGCGGCT	0.677													A	85952286	G	A	85952286	3	1	57	1	0	0	0	0	1	0	0	0	7894	1145	40	1	887	1	IRF8	16	85952286	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		85952286	4402467	29	3602											
MYH2	4620	broad.mit.edu	37	chr17	10429979	10429979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtatttggtcctccattggGcaacctcggtgttggccttg	4	14	12	11	2	0	0	0	0	0	0	3	0	2	0	4	4	1	3	4	4	2	5			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:10429979G>C	uc010coi.3	-	29	4252	c.4124C>G	c.(4123-4125)gCc>gGc	p.A1375G	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1375G|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1375					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CCTCCATTGGGCAACCTCGGT	0.567													C	10429979	G	C	10429979	3	2	57	1	0	0	0	0	1	0	0	0	10111	1203	42	4	1745	4	MYH2	17	10429979	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		10429979	70765231	30	3603											
NPTX1	4884	broad.mit.edu	37	chr17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccacacctggcgtggCgctggacttgagccacatgc	6	7	13	15	3	0	1	0	1	0	0	0	2	0	2	3	3	3	1	3	3	0	1			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr17:78447110C>T	uc002jyp.1	-	2	945	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587													T	78447110	C	T	78447110	3	4	57	1	0	0	0	0	1	0	0	0	10678	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	68017131	78447110	2748100	31	3604											
APC2	10297	broad.mit.edu	37	chr19	1465389	1465389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcaacctgctggccCatcggcccgccaagcaccag	7	4	10	20	3	0	0	0	0	0	0	1	0	0	0	6	2	4	3	6	2	2	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:1465389C>T	uc002lsr.1	+	14	2297	c.2089C>T	c.(2089-2091)Cat>Tat	p.H697Y	APC2_uc002lss.1_Missense_Mutation_p.H279Y|APC2_uc002lst.1_Missense_Mutation_p.H697Y|APC2_uc002lsu.1_Missense_Mutation_p.H696Y|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	697					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		CCTGCTGGCCCATCGGCCCGC	0.716													T	1465389	C	T	1465389	3	4	57	1	0	0	0	0	1	0	0	0	766	594	21	2	2143	2	APC2	19	1465389	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		1465389	57663594	32	3605											
PLIN4	729359	broad.mit.edu	37	chr19	4512541	4512541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcccctttggccacattCgcagcaccggtgaccccact	7	7	9	18	3	0	1	0	1	0	0	1	1	0	1	6	3	1	2	6	3	0	2	rs139885054	by1000genomes	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:4512541C>T	uc002mar.1	-	2	1389	c.1389G>A	c.(1387-1389)gcG>gcA	p.A463A	PLIN4_uc010dub.1_5'Flank	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	463	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGGCCACATTCGCAGCACCGG	0.577													T	4512541	C	T	4512541	2	4	57	1	0	0	0	0	0	0	0	1	12169	871	31	1		1	PLIN4	19	4512541	Silent	SNP	C	TCGA-06-0650-01A-02D-1696-08	3047152	4512541	54616442	33	3606											
CD209	30835	broad.mit.edu	37	chr19	7810925	7810925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaggttctggtagatcGcgtcttgcctggattgttcc	4	14	14	9	2	3	1	1	0	2	1	5	2	4	2	2	4	1	3	2	4	1	5			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:7810925G>A	uc002mht.2	-	3	294	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CD209_uc010xju.1_Missense_Mutation_p.A76V|CD209_uc010dvp.2_Missense_Mutation_p.A52V|CD209_uc002mhr.2_Missense_Mutation_p.A52V|CD209_uc002mhs.2_Missense_Mutation_p.A52V|CD209_uc002mhu.2_Missense_Mutation_p.A76V|CD209_uc010dvq.2_Missense_Mutation_p.A76V|CD209_uc002mhq.2_Missense_Mutation_p.A76V|CD209_uc002mhv.2_Missense_Mutation_p.A52V|CD209_uc002mhx.2_Missense_Mutation_p.A32V|CD209_uc002mhw.2_Missense_Mutation_p.A32V|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	76					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTGGTAGATCGCGTCTTGCCT	0.507													A	7810925	G	A	7810925	3	1	57	1	0	0	0	0	1	0	0	0	3014	1087	38	1	1003	1	CD209	19	7810925	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	3298384	7810925	51318058	34	3607											
FCGBP	8857	broad.mit.edu	37	chr19	40432968	40432968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatttccattacttactcCggccgcaatcagcagctgtt	9	12	7	13	2	1	0	1	0	0	0	3	1	3	0	3	1	4	4	3	1	3	4	rs142198641	byFrequency	TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:40432968C>T	uc002omp.4	-	1	1309	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	434	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTACTTACTCCGGCCGCAATC	0.587													T	40432968	C	T	40432968	3	4	57	1	0	0	0	0	1	0	0	0	5827	652	23	1	15056	1	FCGBP	19	40432968	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	32622043	40432968	18696015	35	3608											
NLRP5	126206	broad.mit.edu	37	chr19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgtatttgcggaaaattCgggtggatgtcaaagggatc	10	11	14	6	3	1	0	1	0	0	0	4	3	2	3	1	4	1	1	1	4	4	3			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													T	56539808	C	T	56539808	3	4	57	1	0	0	0	0	1	0	0	0	10556	875	31	1	2235	1	NLRP5	19	56539808	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08	16106840	56539808	2589175	36	3609											
TSHZ2	128553	broad.mit.edu	37	chr20	51870755	51870755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggacaagctcagacccaCgagctattcaaagcccagga	16	4	9	12	1	2	1	2	0	0	1	2	4	2	3	2	2	3	2	2	2	4	2	rs141985599		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chr20:51870755C>T	uc002xwo.3	+	1	1645	c.758C>T	c.(757-759)aCg>aTg	p.T253M	TSHZ2_uc021wex.1_Missense_Mutation_p.T250M	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	253					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTCAGACCCACGAGCTATTCA	0.488													T	51870755	C	T	51870755	3	4	57	1	0	0	0	0	1	0	0	0	16725	536	19	1	764	1	TSHZ2	20	51870755	Missense_Mutation	SNP	C	TCGA-06-0650-01A-02D-1696-08		51870755	11154765	37	3610											
GPR143	4935	broad.mit.edu	37	chrX	9711677	9711677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctcctctcgttctccGtgtaaatgccttgtcttcct	4	16	5	16	2	3	0	0	0	3	0	8	0	6	0	6	0	1	2	6	0	2	4	rs137852297		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:9711677G>A	uc004cst.2	-	5	843	c.695C>T	c.(694-696)aCg>aTg	p.T232M		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	232	Necessary for its G protein-activation ability and normal distribution of melanosomes.		T -> K (in OA1; abnormal distribution of melanosomes; Not delivered at the cell surface of melanocytic and non- melanocytic cells).		calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CTCGTTCTCCGTGTAAATGCC	0.383													A	9711677	G	A	9711677	3	1	57	1	0	0	0	0	1	0	0	0	6705	1145	40	1	535	1	GPR143	23	9711677	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08		9711677	145558883	38	3611											
WDR13	64743	broad.mit.edu	37	chrX	48463240	48463240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaccccgacagtgacGggcagtgaggacatgtgcgt	8	7	13	13	3	1	2	1	2	1	0	2	4	1	3	3	2	1	1	3	2	0	0	rs144018865		TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48463240G>A	uc004dkj.2	+	8	1783	c.1278G>A	c.(1276-1278)acG>acA	p.T426T	WDR13_uc004dkk.2_Silent_p.T334T|WDR13_uc004dkl.4_Silent_p.T334T	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	426						cytoplasm|nucleus		p.V425A(1)		endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						CGACAGTGACGGGCAGTGAGG	0.622													A	48463240	G	A	48463240	2	1	57	1	0	0	0	0	0	0	0	1	17377	1103	39	1		1	WDR13	23	48463240	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	38751563	48463240	106807320	39	3612											
GRIPAP1	56850	broad.mit.edu	37	chrX	48847434	48847434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacggcatgggggccaggacGgtgggggccgggccccctgg	5	3	21	12	3	0	0	0	0	0	0	0	1	0	1	4	9	1	1	4	9	1	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:48847434G>A	uc004dly.1	-	6	581	c.546C>T	c.(544-546)acC>acT	p.T182T	GRIPAP1_uc004dlz.3_Silent_p.T72T|GRIPAP1_uc004dma.3_Silent_p.T129T	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	182						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGGCCAGGACGGTGGGGGCCG	0.607													A	48847434	G	A	48847434	2	1	57	1	0	0	0	0	0	0	0	1	6844	1103	39	1		1	GRIPAP1	23	48847434	Silent	SNP	G	TCGA-06-0650-01A-02D-1696-08	384194	48847434	106423126	40	3613											
FMR1NB	158521	broad.mit.edu	37	chrX	147063166	147063166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggatcctgctgttcGtgtgctactacctgtcctac	5	15	8	13	1	0	0	0	0	0	0	3	1	2	1	4	1	5	3	4	1	3	5			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:147063166G>A	uc004fcm.3	+	0	318	c.244G>A	c.(244-246)Gtg>Atg	p.V82M		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	82						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCTGTTCGTGTGCTACTA	0.612													A	147063166	G	A	147063166	3	1	57	1	0	0	0	0	1	0	0	0	6010	1145	40	1	246	1	FMR1NB	23	147063166	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	98215732	147063166	8207394	41	3614											
SRPK3	26576	broad.mit.edu	37	chrX	153049494	153049494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctgtcaccccgggggcGccagagcaggtccctcccca	6	4	13	18	2	1	1	1	0	0	1	3	1	3	1	6	4	1	2	6	4	0	0			TCGA-06-0650-01A-02D-1696-08	TCGA-06-0650-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89af56db-b7f9-41d2-af62-c9b2ee7b540f	ed56d74a-781d-4408-9adc-9bfcfbe34585	g.chrX:153049494G>A	uc004fik.3	+	15	3596	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	SRPK3_uc004fim.3_Intron|SRPK3_uc004fil.3_Missense_Mutation_p.A325T|SRPK3_uc004fin.3_Missense_Mutation_p.A324T|SRPK3_uc010nul.3_Intron	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	325	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCGGGGGCGCCAGAGCAGG	0.697													A	153049494	G	A	153049494	3	1	57	1	0	0	0	0	1	0	0	0	15257	1087	38	1	1011	1	SRPK3	23	153049494	Missense_Mutation	SNP	G	TCGA-06-0650-01A-02D-1696-08	5986328	153049494	2221066	42	3615											
KIAA1751	85452	broad.mit.edu	37	chr1	1896365	1896365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtttgctgttgaaggggcGtccttggaactcacgccccc	5	10	13	13	3	1	1	1	1	0	0	2	2	2	2	3	4	2	3	3	4	2	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:1896365G>A	uc001aim.1	-	12	1693	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	KIAA1751_uc009vkz.1_Missense_Mutation_p.R513C	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	513										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TTGAAGGGGCGTCCTTGGAAC	0.662													A	1896365	G	A	1896365	3	1	58	1	0	0	0	0	1	0	0	0	8314	1145	40	1	775	1	KIAA1751	1	1896365	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		1896365	247354256	1	3616											
RBMXL1	494115	broad.mit.edu	37	chr1	89448410	89448410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttggtgctccgcggCttgaactgctgtaggaatca	7	11	11	12	2	2	1	1	1	1	0	3	2	3	2	2	3	3	4	2	3	3	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:89448410C>T	uc021opo.1	-	0	1100	c.1100G>A	c.(1099-1101)aGc>aAc	p.S367N	CCBL2_uc001dmp.2_Intron|CCBL2_uc001dmq.2_Intron|CCBL2_uc001dmr.2_Intron|RBMXL1_uc009wcx.3_Missense_Mutation_p.S367N|RBMXL1_uc001dms.3_Missense_Mutation_p.S367N	NM_019610	NP_062556	Q96E39	RBMXL_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 1 (RBMXL1), transcript variant 2, mRNA.	367	Ser-rich.						nucleotide binding|RNA binding										TGCTCCGCGGCTTGAACTGCT	0.517													T	89448410	C	T	89448410	3	4	58	1	0	0	0	0	1	0	0	0	13241	797	28	2	76	2	RBMXL1	1	89448410	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	87552045	89448410	159802211	2	3617											
GFI1	2672	broad.mit.edu	37	chr1	92946526	92946526	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggccccacacggtcGgtagctctgcaccaggtgcc	6	6	12	17	2	1	0	0	0	1	0	3	0	2	0	5	4	3	3	5	4	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:92946526G>A	uc001dou.4	-	3	582	c.418C>T	c.(418-420)Cga>Tga	p.R140*	GFI1_uc001dov.4_Nonsense_Mutation_p.R140*|GFI1_uc001dow.4_Nonsense_Mutation_p.R140*	NM_001127215	NP_005254	Q99684	GFI1_HUMAN	Homo sapiens growth factor independent 1 transcription repressor (GFI1), transcript variant 2, mRNA.	140					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		CCACACGGTCGGTAGCTCTGC	0.716													A	92946526	G	A	92946526	4	1	58	1	0	0	0	0	0	1	0	0	6395	1124	39	1	866	1	GFI1	1	92946526	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	3498116	92946526	156304095	3	3618											
DENND2C	163259	broad.mit.edu	37	chr1	115165651	115165651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcgggtggtagcttccatGctgaaggggatctccacata	9	10	13	9	1	1	1	0	1	1	0	3	2	2	2	2	4	3	3	2	4	4	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:115165651G>T	uc001efd.1	-	5	1715	c.1013C>A	c.(1012-1014)gCa>gAa	p.A338E	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A338E	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	338										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGCTTCCATGCTGAAGGGGA	0.343													T	115165651	G	T	115165651	3	4	58	1	0	0	0	0	1	0	0	0	4469	1319	46	4	1662	4	DENND2C	1	115165651	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	22219125	115165651	134084970	4	3619											
USH2A	7399	broad.mit.edu	37	chr1	216595737	216595737	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaataaataatcaggcccaCgccacttgccagcaatactt	15	9	5	12	1	1	0	1	0	0	0	1	0	1	0	3	1	3	1	3	1	7	6			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:216595737C>T	uc001hku.1	-	1					USH2A_uc001hkv.3_5'UTR	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.						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)		ATCAGGCCCACGCCACTTGCC	0.408										HNSCC(13;0.011)			T	216595737	C	T	216595737	1	4	58	1	0	0	0	0	0	0	0	0	17138	551	19	1		1	USH2A	1	216595737	Translation_Start_Site	SNP	C	TCGA-06-0686-01A-01W-0348-08	101430086	216595737	32654884	5	3620											
HHIPL2	79802	broad.mit.edu	37	chr1	222717477	222717477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcccgggagattccggaGaggcgtctgggtgttttcgg	5	9	19	8	4	1	2	0	0	1	2	3	5	2	2	2	6	0	1	2	6	0	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:222717477G>C	uc001hnh.1	-	1	434	c.376C>G	c.(376-378)Ctc>Gtc	p.L126V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	126					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		AGATTCCGGAGAGGCGTCTGG	0.587													C	222717477	G	C	222717477	3	2	58	1	0	0	0	0	1	0	0	0	7149	942	33	4	1830	4	HHIPL2	1	222717477	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	6121740	222717477	26533144	6	3621											
SNAP47	116841	broad.mit.edu	37	chr1	227935725	227935725	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttcagcatcatcgagcaTttctggagggagctgctgct	7	12	12	10	1	4	0	2	0	2	0	5	3	4	2	0	2	5	5	0	2	0	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:227935725T>A	uc001hrf.2	+	1	837	c.423T>A	c.(421-423)caT>caA	p.H141Q	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_Missense_Mutation_p.H141Q|SNAP47_uc001hre.3_Intron	NM_053052	NP_444280	Q5SQN1	SNP47_HUMAN	Homo sapiens synaptosomal-associated protein, 47kDa (SNAP47), mRNA.	141						endomembrane system|membrane|perinuclear region of cytoplasm				endometrium(1)|large_intestine(5)|liver(2)|lung(6)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TCATCGAGCATTTCTGGAGGG	0.597													A	227935725	T	A	227935725	3	1	58	1	0	0	0	0	1	0	0	0	14926	1490	52	5	429	5	SNAP47	1	227935725	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	5218248	227935725	21314896	7	3622											
OR6F1	343169	broad.mit.edu	37	chr1	247875632	247875632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagcccagggccagctgCgctgagagcaggctactcat	9	5	14	13	1	1	1	1	1	0	1	1	3	1	2	2	3	5	4	2	3	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr1:247875632C>T	uc001idj.1	-	0	426	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGGCCAGCTGCGCTGAGAGCA	0.597													T	247875632	C	T	247875632	2	4	58	1	0	0	0	0	0	0	0	1	11277	755	27	1		1	OR6F1	1	247875632	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	19939907	247875632	1374989	8	3623											
ALLC	55821	broad.mit.edu	37	chr2	3727521	3727521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggggcttcgacgtggacGtttcttacttcacgggagat	6	12	13	10	5	2	1	1	0	1	1	4	4	3	2	1	4	1	2	1	4	1	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:3727521G>A	uc010ewt.3	+	4	396	c.235G>A	c.(235-237)Gtt>Att	p.V79I		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	98							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CGACGTGGACGTTTCTTACTT	0.532										HNSCC(21;0.051)			A	3727521	G	A	3727521	3	1	58	1	0	0	0	0	1	0	0	0	534	1145	40	1	249	1	ALLC	2	3727521	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		3727521	239471852	9	3624											
TGFA	7039	broad.mit.edu	37	chr2	70680446	70680446	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccactcacagtgttttcGgacctggcagcagctgcaaa	10	8	10	13	1	1	0	1	0	0	0	2	1	1	1	2	2	3	6	2	2	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:70680446G>A	uc002sgs.4	-	4	627	c.379C>T	c.(379-381)Cga>Tga	p.R127*	TGFA_uc010fdq.3_Nonsense_Mutation_p.R133*|TGFA_uc010fdr.3_Nonsense_Mutation_p.R132*|TGFA_uc002sgt.4_Nonsense_Mutation_p.R126*|TGFA_uc002sgu.3_Nonsense_Mutation_p.R126*|TGFA_uc002sgv.3_Nonsense_Mutation_p.R127*|TGFA_uc002sgw.3_Nonsense_Mutation_p.R126*|Mir_548_uc021vjb.1_5'Flank	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	127					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CAGTGTTTTCGGACCTGGCAG	0.632													A	70680446	G	A	70680446	4	1	58	1	0	0	0	0	0	1	0	0	15915	1124	39	1	111	1	TGFA	2	70680446	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	66952925	70680446	172518927	10	3625											
CNTNAP5	129684	broad.mit.edu	37	chr2	125660583	125660583	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccatgccactgtcgcGcctgtgactgtccatgggac	5	9	12	15	3	0	1	0	1	0	0	2	2	1	2	4	1	2	0	4	1	0	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:125660583G>A	uc010flu.3	+	21	3925	c.3561G>A	c.(3559-3561)gcG>gcA	p.A1187A	CNTNAP5_uc002tno.3_Silent_p.A1186A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1186	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCACTGTCGCGCCTGTGACTG	0.537													A	125660583	G	A	125660583	2	1	58	1	0	0	0	0	0	0	0	1	3681	1074	38	1		1	CNTNAP5	2	125660583	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	54980137	125660583	117538790	11	3626											
TTN	7273	broad.mit.edu	37	chr2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttggccttcagccaccGtccattaggaaggtctctct	8	11	10	12	1	3	0	1	0	2	0	5	2	4	1	4	3	1	1	4	3	3	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179438951G>A	uc021vsy.1	-	274	64429	c.64204C>T	c.(64204-64206)Cgg>Tgg	p.R21402W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22329	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21402C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCACCGTCCATTAGGA	0.413													A	179438951	G	A	179438951	3	1	58	1	0	0	0	0	1	0	0	0	16837	1144	40	1	36219	1	TTN	2	179438951	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	53778368	179438951	63760422	12	3627											
TTN	7273	broad.mit.edu	37	chr2	179569359	179569359	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccatcaatgcttatttcaAatttatcactgggttccagt	11	15	5	10	0	3	0	3	0	0	0	4	0	4	0	2	1	1	2	2	1	4	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:179569359A>C	uc021vsy.1	-	101	26333	c.26108T>G	c.(26107-26109)tTt>tGt	p.F8703C	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.F5364C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9630	Ig-like 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTTATTTCAAATTTATCACT	0.368													C	179569359	A	C	179569359	3	2	58	1	0	0	0	0	1	0	0	0	16837	14	1	5	74721	5	TTN	2	179569359	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	130408	179569359	63630014	13	3628											
ALPPL2	251	broad.mit.edu	37	chr2	233272379	233272379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcggggtcaagggcaacTtccagaccattggcttgagt	8	10	14	9	1	1	2	1	1	0	1	2	2	2	2	2	4	2	2	2	4	2	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr2:233272379T>C	uc002vss.4	+	3	429	c.376T>C	c.(376-378)Ttc>Ctc	p.F126L		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	126					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAAGGGCAACTTCCAGACCAT	0.582													C	233272379	T	C	233272379	3	2	58	1	0	0	0	0	1	0	0	0	549	1609	56	3	390	3	ALPPL2	2	233272379	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	53703020	233272379	9926994	14	3629											
CRELD1	78987	broad.mit.edu	37	chr3	9982660	9982660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaggcctgtggccagtgtgGccttggctactttgaggcag	5	11	16	9	0	0	2	0	2	0	0	0	2	0	2	3	5	1	2	3	5	1	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:9982660G>A	uc003buf.3	+	5	686	c.587G>A	c.(586-588)gGc>gAc	p.G196D	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.G196D|CRELD1_uc003bug.3_Missense_Mutation_p.G196D	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	196					cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GGCCAGTGTGGCCTTGGCTAC	0.642													A	9982660	G	A	9982660	3	1	58	1	0	0	0	0	1	0	0	0	3897	1203	42	2	605	2	CRELD1	3	9982660	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		9982660	188039770	15	3630											
PLS1	5357	broad.mit.edu	37	chr3	142383125	142383125	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgggaggagcttgaagaaCtacaagaggcatttaataaa	16	8	11	6	1	0	3	0	1	0	2	1	5	0	5	0	3	3	2	0	3	7	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:142383125C>G	uc010huv.3	+	1	205	c.46C>G	c.(46-48)Cta>Gta	p.L16V	PLS1_uc003euz.3_Missense_Mutation_p.L16V|PLS1_uc003eva.3_Missense_Mutation_p.L16V	NM_001145319	NP_002661	Q14651	PLSI_HUMAN	Homo sapiens plastin 1 (PLS1), transcript variant 1, mRNA.	16	EF-hand 1.					cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						GCTTGAAGAACTACAAGAGGC	0.333													G	142383125	C	G	142383125	3	3	58	1	0	0	0	0	1	0	0	0	12184	564	20	4	48	4	PLS1	3	142383125	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	132400465	142383125	55639305	16	3631											
GHSR	2693	broad.mit.edu	37	chr3	172165997	172165997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagctcgcggaagcgCgacaccaccagcatggtgag	9	4	15	13	5	0	1	0	1	0	0	1	3	0	2	2	2	4	3	2	2	1	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr3:172165997C>T	uc003fib.2	-	0	250	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_uc011bpv.2_Silent_p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	69					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.S69S(3)|p.S69T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657													T	172165997	C	T	172165997	2	4	58	1	0	0	0	0	0	0	0	1	6431	755	27	1		1	GHSR	3	172165997	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	29782872	172165997	25856433	17	3632											
FRYL	285527	broad.mit.edu	37	chr4	48503638	48503638	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaatacaactgaatatttAcctctgcttcattttttatc	11	18	2	10	0	2	1	1	1	1	0	3	1	2	1	2	0	4	1	2	0	7	9			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48503638A>C	uc003gyh.1	-	62	9197	c.8592_splice	c.e62+1	p.E2864_splice	FRYL_uc003gye.1_Splice_Site_p.E46_splice|FRYL_uc003gyf.1_Splice_Site_p.E254_splice|FRYL_uc003gyg.1_Splice_Site_p.E1554_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2864					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						CTGAATATTTACCTCTGCTTC	0.294													C	48503638	A	C	48503638	5	2	58	1	0	0	0	0	0	0	1	0	6116	405	14	5	459	5	FRYL	4	48503638	Splice_Site	SNP	A	TCGA-06-0686-01A-01W-0348-08		48503638	142650638	18	3633											
FRYL	285527	broad.mit.edu	37	chr4	48537846	48537846	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttcttctgcacaaaccTagaaaacaaataaaattatt	18	14	2	7	0	2	1	0	0	2	1	2	1	2	1	1	0	3	1	1	0	8	7			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:48537846T>C	uc003gyh.1	-	48	6999	c.6394_splice	c.e48-1	p.V2132_splice	FRYL_uc003gyg.1_Splice_Site_p.V828_splice|FRYL_uc003gyi.1_Splice_Site_p.V1020_splice|FRYL_uc003gyj.1_Splice_Site_p.V427_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2132					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TGCACAAACCTAGAAAACAAA	0.318													C	48537846	T	C	48537846	5	2	58	1	0	0	0	0	0	0	1	0	6116	1536	53	3	2717	3	FRYL	4	48537846	Splice_Site	SNP	T	TCGA-06-0686-01A-01W-0348-08	34208	48537846	142616430	19	3634											
NPY5R	4889	broad.mit.edu	37	chr4	164272650	164272650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaagttggtgtattgcAtttgtcatttgttgggcatg	7	19	11	4	0	2	0	2	0	0	0	2	0	2	0	0	2	1	5	0	2	2	7			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:164272650A>G	uc003iqn.3	+	3	1407	c.1225A>G	c.(1225-1227)Att>Gtt	p.I409V	NPY5R_uc021xtw.1_Missense_Mutation_p.I409V	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	409					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				GGTGTATTGCATTTGTCATTT	0.348													G	164272650	A	G	164272650	3	3	58	1	0	0	0	0	1	0	0	0	10686	217	8	3	1227	3	NPY5R	4	164272650	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	115734804	164272650	26881626	20	3635											
TRIML1	339976	broad.mit.edu	37	chr4	189065255	189065255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtctgtgccgcatcaCgggaatgaaggagatgctaa	11	8	14	8	2	2	3	1	2	1	1	2	5	2	4	1	2	2	3	1	2	3	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr4:189065255C>T	uc003izm.1	+	4	939	c.824C>T	c.(823-825)aCg>aTg	p.T275M	TRIML1_uc003izn.1_5'UTR	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	275	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.T275T(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGCCGCATCACGGGAATGAAG	0.527													T	189065255	C	T	189065255	3	4	58	1	0	0	0	0	1	0	0	0	16651	536	19	1	842	1	TRIML1	4	189065255	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	24792605	189065255	2089021	21	3636											
CTNND2	1501	broad.mit.edu	37	chr5	11082954	11082954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcggctcggatatatactGaccactgcaaaaacagggaa	15	6	10	10	2	0	1	0	1	0	0	1	3	0	3	1	3	4	2	1	3	6	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:11082954G>A	uc003jfa.1	-	15	2787	c.2642C>T	c.(2641-2643)tCa>tTa	p.S881L	CTNND2_uc010itt.2_Missense_Mutation_p.S790L|CTNND2_uc011cmy.1_Missense_Mutation_p.S544L|CTNND2_uc011cmz.1_Missense_Mutation_p.S448L|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.S473L	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	881					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GATATATACTGACCACTGCAA	0.537													A	11082954	G	A	11082954	3	1	58	1	0	0	0	0	1	0	0	0	4053	1294	45	2	1063	2	CTNND2	5	11082954	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		11082954	169832306	22	3637											
AP3B1	8546	broad.mit.edu	37	chr5	77311333	77311333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaattctgtggtgcagcaAtgattacagcagaagtttca	13	12	10	6	0	2	3	1	2	1	1	2	3	2	3	0	1	4	4	0	1	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:77311333A>G	uc003kfj.3	-	25	3157	c.3032T>C	c.(3031-3033)aTt>aCt	p.I1011T		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	1011					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGGTGCAGCAATGATTACAGC	0.383									Hermansky-Pudlak syndrome				G	77311333	A	G	77311333	3	3	58	1	0	0	0	0	1	0	0	0	746	101	4	3	260	3	AP3B1	5	77311333	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	66228379	77311333	103603927	23	3638											
GPR150	285601	broad.mit.edu	37	chr5	94956705	94956705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggccgtcgcgggcttcgtCgcgcctgttacggtcctggg	2	9	17	13	7	0	0	0	0	0	0	4	1	1	0	3	4	1	2	3	4	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:94956705C>T	uc003kle.1	+	0	726	c.726C>T	c.(724-726)gtC>gtT	p.V242V		NM_199243	NP_954713	Q8NGU9	GP150_HUMAN	Homo sapiens G protein-coupled receptor 150 (GPR150), mRNA.	242						integral to membrane|plasma membrane	G-protein coupled receptor activity			lung(2)	2		all_cancers(142;0.000462)|all_epithelial(76;2.44e-06)|all_lung(232;0.0318)|Lung NSC(167;0.041)|Ovarian(225;0.051)		all cancers(79;1.82e-16)		CGGGCTTCGTCGCGCCTGTTA	0.751													T	94956705	C	T	94956705	2	4	58	1	0	0	0	0	0	0	0	1	6710	871	31	1		1	GPR150	5	94956705	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	17645372	94956705	85958555	24	3639											
PPIC	5480	broad.mit.edu	37	chr5	122359634	122359634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgccactgttgatgatcGagcagttggtgagtggacgg	7	12	15	7	2	1	3	0	3	1	0	2	5	1	4	1	3	2	3	1	3	0	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:122359634G>A	uc003kth.3	-	4	680	c.575C>T	c.(574-576)tCg>tTg	p.S192L		NM_000943	NP_000934	P45877	PPIC_HUMAN	Homo sapiens peptidylprolyl isomerase C (cyclophilin C) (PPIC), mRNA.	192	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding	p.S192S(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	GTTGATGATCGAGCAGTTGGT	0.478													A	122359634	G	A	122359634	3	1	58	1	0	0	0	0	1	0	0	0	12402	1059	37	1	67	1	PPIC	5	122359634	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	27402929	122359634	58555626	25	3640											
SLC12A2	6558	broad.mit.edu	37	chr5	127520072	127520072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaagtattatagcttttgAggaaatcattgagccataca	15	14	7	5	0	1	2	1	2	0	0	1	3	1	3	1	1	3	2	1	1	7	8			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:127520072A>G	uc003kus.3	+	24	3478	c.3314A>G	c.(3313-3315)gAg>gGg	p.E1105G	SLC12A2_uc010jdf.3_Non-coding_Transcript|SLC12A2_uc010jdg.3_Missense_Mutation_p.E1089G	NM_001046	NP_001037	P55011	S12A2_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 2 (SLC12A2), transcript variant 1, mRNA.	1105					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ATAGCTTTTGAGGAAATCATT	0.289													G	127520072	A	G	127520072	3	3	58	1	0	0	0	0	1	0	0	0	14477	304	11	3	3412	3	SLC12A2	5	127520072	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	5160438	127520072	53395188	26	3641											
PCDHAC2	56136	broad.mit.edu	37	chr5	140263877	140263877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtggagagcggccaagCgccacaggcttcgtcgaggg	7	5	18	11	4	0	1	0	0	0	1	2	3	0	1	2	5	2	2	2	5	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:140263877C>T	uc003lif.2	+	0	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.A675V|PCDHAC2_uc003lid.3_Missense_Mutation_p.A675V	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	688	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A675V(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGCCAAGCGCCACAGGCT	0.662													T	140263877	C	T	140263877	3	4	58	1	0	0	0	0	1	0	0	0	11609	768	27	1		1	PCDHAC2	5	140263877	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	12743805	140263877	40651383	27	3642											
PDGFRB	5159	broad.mit.edu	37	chr5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcatgatcttcagctccGacataagggcttgcttctca	9	12	8	12	1	4	1	3	1	2	0	6	3	5	1	1	1	2	3	1	1	1	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:149503887G>A	uc003lro.3	-	13	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	650	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149503887	G	A	149503887	3	1	58	1	0	0	0	0	1	0	0	0	11738	1059	37	1	1411	1	PDGFRB	5	149503887	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	9240010	149503887	31411373	28	3643											
GABRG2	2566	broad.mit.edu	37	chr5	161520964	161520964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctggaaggatatgacaatAaacttcggcctgatatagga	14	10	11	6	1	0	2	0	2	0	0	1	5	0	5	1	4	2	1	1	4	7	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:161520964A>G	uc010jjc.3	+	1	596	c.238A>G	c.(238-240)Aaa>Gaa	p.K80E	GABRG2_uc003lyy.4_Missense_Mutation_p.K80E|GABRG2_uc003lyz.4_Missense_Mutation_p.K80E|GABRG2_uc011dej.2_5'UTR	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	80					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATATGACAATAAACTTCGGCC	0.373													G	161520964	A	G	161520964	3	3	58	1	0	0	0	0	1	0	0	0	6224	363	13	3	244	3	GABRG2	5	161520964	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	12017077	161520964	19394296	29	3644											
GRM6	2916	broad.mit.edu	37	chr5	178415969	178415969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcgaatgtactgcagaaGcatccgcccatcagtgggtt	10	9	11	11	2	1	1	1	0	0	1	3	2	2	1	2	1	4	5	2	1	3	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr5:178415969G>A	uc003mjr.3	-	5	1500	c.1321C>T	c.(1321-1323)Ctt>Ttt	p.L441F	GRM6_uc010jla.1_Missense_Mutation_p.L24F|GRM6_uc003mjs.1_Missense_Mutation_p.L61F	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	441					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		TACTGCAGAAGCATCCGCCCA	0.642													A	178415969	G	A	178415969	3	1	58	1	0	0	0	0	1	0	0	0	6856	971	34	2	1332	2	GRM6	5	178415969	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	16895005	178415969	2499291	30	3645											
ZNF184	7738	broad.mit.edu	37	chr6	27420960	27420960	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcttttgtgtttttccacTattacctctggagatagctc	6	19	6	10	0	2	1	0	0	2	1	5	2	3	1	2	1	2	2	2	1	3	7			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:27420960T>G	uc003njj.3	-	4	1189	c.378A>C	c.(376-378)atA>atC	p.I126I	ZNF184_uc010jqv.3_Silent_p.I126I|ZNF184_uc003nji.3_Silent_p.I126I	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTTTTTCCACTATTACCTCTG	0.413													G	27420960	T	G	27420960	2	3	58	1	0	0	0	0	0	0	0	1	17852	1512	53	5		5	ZNF184	6	27420960	Silent	SNP	T	TCGA-06-0686-01A-01W-0348-08		27420960	143694107	31	3646											
OR2H1	26716	broad.mit.edu	37	chr6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcacttaaccctctcGtatacaccctgaggaacaag	11	10	5	15	1	2	1	1	1	1	0	4	2	3	2	3	1	3	1	3	1	5	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr6:29430405G>A	uc003nmi.3	+	2	1302	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493													A	29430405	G	A	29430405	3	1	58	1	0	0	0	0	1	0	0	0	11077	1145	40	1	861	1	OR2H1	6	29430405	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	2009445	29430405	141684662	32	3647											
SUN3	256979	broad.mit.edu	37	chr7	48035742	48035742	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcaatgatggaggcTcctaaaattataaagtaagt	15	11	8	7	0	1	1	1	1	0	0	2	2	2	2	2	2	1	3	2	2	7	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:48035742T>A	uc003tof.3	-	8	675	c.578_splice	c.e8-1	p.G193_splice	SUN3_uc010kyq.3_Splice_Site_p.G93_splice|SUN3_uc003tog.3_Splice_Site_p.G193_splice|SUN3_uc011kcf.2_Splice_Site_p.G181_splice	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	193	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGATGGAGGCTCCTAAAATTA	0.313													A	48035742	T	A	48035742	2	1	58	1	0	0	0	0	0	0	0	1	15489	1565	54	5		5	SUN3	7	48035742	Silent	SNP	T	TCGA-06-0686-01A-01W-0348-08		48035742	111102921	33	3648											
ADAM22	53616	broad.mit.edu	37	chr7	87704970	87704970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcctctgaatacatagagaGacacattgaacatggaggca	15	8	10	8	0	1	4	0	2	1	2	2	6	2	5	1	2	2	1	1	2	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:87704970G>A	uc003ujn.3	+	3	568	c.353G>A	c.(352-354)aGa>aAa	p.R118K	ADAM22_uc003uji.2_Missense_Mutation_p.R117K|ADAM22_uc003ujj.2_Missense_Mutation_p.R118K|ADAM22_uc003ujk.2_Missense_Mutation_p.R118K|ADAM22_uc003ujl.2_Missense_Mutation_p.R118K|ADAM22_uc003ujm.3_Missense_Mutation_p.R118K|ADAM22_uc003ujo.3_Missense_Mutation_p.R118K|ADAM22_uc003ujp.1_Missense_Mutation_p.R170K	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	118					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TACATAGAGAGACACATTGAA	0.338													A	87704970	G	A	87704970	3	1	58	1	0	0	0	0	1	0	0	0	244	942	33	2	367	2	ADAM22	7	87704970	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	39669228	87704970	71433693	34	3649											
SAMD9L	219285	broad.mit.edu	37	chr7	92764397	92764397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctgtcagatggtgtattGttctgcagaaggacttccac	10	13	10	8	0	3	2	1	0	2	2	4	3	4	3	1	2	1	3	1	2	3	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:92764397G>T	uc003umh.1	-	4	2104	c.888C>A	c.(886-888)aaC>aaA	p.N296K	SAMD9L_uc003umj.1_Missense_Mutation_p.N296K|SAMD9L_uc003umi.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfb.1_Missense_Mutation_p.N296K|SAMD9L_uc003umk.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfc.1_Missense_Mutation_p.N296K|SAMD9L_uc010lfd.1_Missense_Mutation_p.N296K|SAMD9L_uc022ahh.1_Missense_Mutation_p.N296K	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	296										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGGTGTATTGTTCTGCAGAA	0.338													T	92764397	G	T	92764397	3	4	58	1	0	0	0	0	1	0	0	0	13918	1368	48	4	3870	4	SAMD9L	7	92764397	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	5059427	92764397	66374266	35	3650											
AZGP1	563	broad.mit.edu	37	chr7	99564649	99564649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctcccagggcaccaCgaggggctgggccaggctgc	5	4	17	15	1	0	0	0	0	0	0	1	1	1	0	4	6	1	4	4	6	0	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:99564649C>G	uc003ush.3	-	3	966	c.874G>C	c.(874-876)Gtg>Ctg	p.V292L		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	292	Ig-like C1-type.				antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGGGCACCACGAGGGGCTGG	0.637													G	99564649	C	G	99564649	3	3	58	1	0	0	0	0	1	0	0	0	1244	536	19	4	26	4	AZGP1	7	99564649	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	6800252	99564649	59574014	36	3651											
TRPV6	55503	broad.mit.edu	37	chr7	142572331	142572331	+	Frame_Shift_Del	DEL	G	G	-																															cagcccagcacgagtgcaaaGgacatgggtaccacctcccc																										TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr7:142572331delG	uc003wbx.2	-	10	1594	c.1365delC	c.(1363-1365)tccfs	p.S455fs	TRPV6_uc003wbw.1_Frame_Shift_Del_p.S241fs|TRPV6_uc010lou.1_Frame_Shift_Del_p.S326fs	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	455					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CGAGTGCAAAGGACATGGGTA	0.592													-	142572331	G	-	142572331	7	5	58	1	0	1	0	1	0	0	0	0	16701	987	35	0	832	0	TRPV6	7	142572331	Frame_Shift_Del	DEL	G	TCGA-06-0686-01A-01W-0348-08	43007682	142572331	16566332	37	3652											
ARHGEF10	9639	broad.mit.edu	37	chr8	1808147	1808147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaagtcaacccatattCtgtcatcgacatcacgccat	13	10	6	12	2	4	1	3	1	1	0	5	3	4	1	2	0	1	0	2	0	3	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:1808147C>T	uc003wpr.3	+	3	456	c.278C>T	c.(277-279)tCt>tTt	p.S93F	ARHGEF10_uc003wpq.1_Missense_Mutation_p.S117F|ARHGEF10_uc003wps.3_Missense_Mutation_p.S93F|ARHGEF10_uc003wpt.3_Missense_Mutation_p.S7F|ARHGEF10_uc010lrd.2_Missense_Mutation_p.S7F|ARHGEF10_uc003wpu.3_Missense_Mutation_p.S7F	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	117					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AACCCATATTCTGTCATCGAC	0.597													T	1808147	C	T	1808147	3	4	58	1	0	0	0	0	1	0	0	0	897	913	32	2	288	2	ARHGEF10	8	1808147	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		1808147	144555875	38	3653											
CHD7	55636	broad.mit.edu	37	chr8	61769309	61769309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaagcaggcctttcGcgcacacccacaaggcatct	9	7	8	17	2	1	0	0	0	1	0	3	0	2	0	3	2	2	4	3	2	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:61769309G>A	uc003xue.3	+	33	7962	c.7470G>A	c.(7468-7470)tcG>tcA	p.S2490S	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	2490					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CAGGCCTTTCGCGCACACCCA	0.483													A	61769309	G	A	61769309	2	1	58	1	0	0	0	0	0	0	0	1	3360	1074	38	1		1	CHD7	8	61769309	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	59961162	61769309	84594713	39	3654											
C8orf34	116328	broad.mit.edu	37	chr8	69621313	69621313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaaaatcccagattcattCggtaagttttaagtccaaca	16	11	6	8	1	1	1	1	0	0	1	4	2	3	1	2	1	1	2	2	1	6	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:69621313C>T	uc010lyz.3	+	9	1618	c.1327_splice	c.e9+1	p.D443_splice	C8orf34_uc003xyb.3_Splice_Site_p.D332_splice	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	357					signal transduction		cAMP-dependent protein kinase regulator activity	p.F331F(1)|p.F356F(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CAGATTCATTCGGTAAGTTTT	0.343													T	69621313	C	T	69621313	2	4	58	1	0	0	0	0	0	0	0	1	2447	898	31	1		1	C8orf34	8	69621313	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	7852004	69621313	76742709	40	3655											
KCNB2	9312	broad.mit.edu	37	chr8	73849588	73849588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgccagggatggcacGctggagtatgccccagttga	7	8	14	12	1	0	1	0	1	0	0	0	3	0	3	4	3	3	5	4	3	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:73849588G>A	uc003xzb.3	+	2	2586	c.1998G>A	c.(1996-1998)acG>acA	p.T666T		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	666					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGGATGGCACGCTGGAGTATG	0.567													A	73849588	G	A	73849588	2	1	58	1	0	0	0	0	0	0	0	1	8071	1074	38	1		1	KCNB2	8	73849588	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	4228275	73849588	72514434	41	3656											
CCNE2	9134	broad.mit.edu	37	chr8	95900206	95900206	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccaatgagttgaagcatAtttttatttatatccttttg	11	20	5	5	0	0	2	0	2	0	0	2	2	2	2	2	0	1	2	2	0	6	11			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:95900206A>C	uc003yhc.3	-	6	653	c.549T>G	c.(547-549)aaT>aaG	p.N183K	CCNE2_uc003yhd.2_Missense_Mutation_p.N183K	NM_057749	NP_477097	O96020	CCNE2_HUMAN	Homo sapiens cyclin E2 (CCNE2), mRNA.	183					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GTTGAAGCATATTTTTATTTA	0.284													C	95900206	A	C	95900206	3	2	58	1	0	0	0	0	1	0	0	0	2951	446	16	5	689	5	CCNE2	8	95900206	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	22050618	95900206	50463816	42	3657											
ENPP2	5168	broad.mit.edu	37	chr8	120569830	120569830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggtagctgcggctggtCtttcggaagaagtccaggct	6	11	15	9	2	2	1	0	0	2	1	4	2	3	2	1	5	2	4	1	5	3	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:120569830C>T	uc003yos.2	-	25	2765	c.2679G>A	c.(2677-2679)aaG>aaA	p.K893K	ENPP2_uc011lic.2_Silent_p.K379K|ENPP2_uc003yor.2_Silent_p.K476K|ENPP2_uc010mdd.2_Silent_p.K866K|ENPP2_uc003yot.2_Silent_p.K841K	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	841					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.R892Q(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCGGCTGGTCTTTCGGAAGA	0.468													T	120569830	C	T	120569830	2	4	58	1	0	0	0	0	0	0	0	1	5171	912	32	2		2	ENPP2	8	120569830	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	24669624	120569830	25794192	43	3658											
COL14A1	7373	broad.mit.edu	37	chr8	121326187	121326187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggaccagatggccctcGgggtgaaattggtctgccag	8	7	15	11	1	1	2	0	1	1	1	2	3	1	3	4	5	1	0	4	5	1	1	rs142082215		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:121326187G>A	uc003yox.3	+	37	4737	c.4472G>A	c.(4471-4473)cGg>cAg	p.R1491Q	COL14A1_uc003yoz.3_Missense_Mutation_p.R456Q	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1491	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGGCCCTCGGGGTGAAATT	0.468													A	121326187	G	A	121326187	3	1	58	1	0	0	0	0	1	0	0	0	3702	1116	39	1	4618	1	COL14A1	8	121326187	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	756357	121326187	25037835	44	3659											
COL22A1	169044	broad.mit.edu	37	chr8	139606377	139606377	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggccctgggggccCaggtctgccttgagatgact	5	8	16	12	0	1	2	0	2	1	1	2	3	2	2	4	5	1	0	4	5	0	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr8:139606377C>A	uc003yvd.3	-	62	4945	c.4498G>T	c.(4498-4500)Ggg>Tgg	p.G1500W	COL22A1_uc011ljo.2_Missense_Mutation_p.G780W	NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	1500	Collagen-like 15.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCTGGGGGCCCAGGTCTGCCT	0.632										HNSCC(7;0.00092)			A	139606377	C	A	139606377	3	1	58	1	0	0	0	0	1	0	0	0	3712	594	21	4	394	4	COL22A1	8	139606377	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	18280190	139606377	6757645	45	3660											
IL15RA	3601	broad.mit.edu	37	chr10	5995110	5995110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctgctgctggtccccCaagtcaccggcagagcctcc	6	8	9	18	1	2	1	1	0	1	1	5	1	4	1	5	2	3	3	5	2	1	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:5995110C>A	uc021pmo.1	-	7	1024	c.1010G>T	c.(1009-1011)tGg>tTg	p.W337L	IL15RA_uc010qau.2_Missense_Mutation_p.W218L|IL15RA_uc021pmp.1_Missense_Mutation_p.W188L|IL15RA_uc001iiv.3_Missense_Mutation_p.W251L|IL15RA_uc001iiw.3_Missense_Mutation_p.W215L|IL15RA_uc001iiy.3_Missense_Mutation_p.W99L	NM_001243539	NP_001230468	Q13261	I15RA_HUMAN	Homo sapiens interleukin 15 receptor, alpha (IL15RA), transcript variant 3, mRNA.	251					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						GCTGGTCCCCCAAGTCACCGG	0.557													A	5995110	C	A	5995110	3	1	58	1	0	0	0	0	1	0	0	0	7690	595	21	4	55	4	IL15RA	10	5995110	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		5995110	129539637	46	3661											
AGAP6	414189	broad.mit.edu	37	chr10	51754173	51754173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtagaaataagaagaaGcaactgtacaaaccatgtaa	20	8	8	5	0	0	3	0	0	0	3	0	3	0	3	1	0	4	5	1	0	9	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:51754173G>T	uc001jix.4	+	3	778	c.380G>T	c.(379-381)aGc>aTc	p.S127I		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	127					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.S127I(4)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						ATAAGAAGAAGCAACTGTACA	0.269													T	51754173	G	T	51754173	3	4	58	1	0	0	0	0	1	0	0	0	372	971	34	4	394	4	AGAP6	10	51754173	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	45759063	51754173	83780574	47	3662											
DUSP13	51207	broad.mit.edu	37	chr10	76867879	76867879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgtagaagtcagggcCgccctgacagtagaggccct	8	6	14	13	2	1	3	1	1	0	2	1	3	1	3	4	2	1	3	4	2	3	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr10:76867879C>T	uc001jws.3	-	1	293	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	DUSP13_uc001jwu.3_Intron|DUSP13_uc001jww.3_Intron|DUSP13_uc009xrs.3_5'UTR|DUSP13_uc001jwt.3_5'UTR|DUSP13_uc001jwv.3_Intron	NM_001007271	NP_001007272	Q6B8I1	MDSP_HUMAN	Homo sapiens dual specificity phosphatase 13 (DUSP13), transcript variant 1, mRNA.	80	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					AAGTCAGGGCCGCCCTGACAG	0.622													T	76867879	C	T	76867879	3	4	58	1	0	0	0	0	1	0	0	0	4852	652	23	1	1232	1	DUSP13	10	76867879	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	25113706	76867879	58666868	48	3663											
MUC2	4583	broad.mit.edu	37	chr11	1078153	1078153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcggggactacaacGgcctgcagagctattcagaa	10	7	12	12	2	2	2	1	0	1	2	2	3	2	3	2	3	5	2	2	3	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:1078153G>T	uc001lsx.1	+	3	547	c.520G>T	c.(520-522)Ggc>Tgc	p.G174C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	174	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GGACTACAACGGCCTGCAGAG	0.667													T	1078153	G	T	1078153	3	4	58	1	0	0	0	0	1	0	0	0	10051	1116	39	4	534	4	MUC2	11	1078153	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		1078153	133928363	49	3664											
UBQLN3	50613	broad.mit.edu	37	chr11	5529867	5529867	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagcctccatgtgtggAagtccaggggttggggagag	8	8	17	8	0	0	2	0	1	0	1	2	4	2	3	4	5	1	1	4	5	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:5529867A>T	uc021qcw.1	-	0	922	c.922T>A	c.(922-924)Tcc>Acc	p.S308T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.S308T	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	308										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CCATGTGTGGAAGTCCAGGGG	0.517													T	5529867	A	T	5529867	3	4	58	1	0	0	0	0	1	0	0	0	17000	246	9	5	1049	5	UBQLN3	11	5529867	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	4451714	5529867	129476649	50	3665											
GYLTL1B	120071	broad.mit.edu	37	chr11	45946107	45946107	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactccggcctctatgggctAatgaagctggtgctgcccag	7	10	12	12	1	1	1	0	1	1	0	2	1	2	1	3	3	4	3	3	3	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:45946107A>C	uc001nbv.1	+	4	654	c.543A>C	c.(541-543)ctA>ctC	p.L181L	GYLTL1B_uc001nbw.1_Silent_p.L150L|GYLTL1B_uc001nbx.1_Silent_p.L181L	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	181					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		TCTATGGGCTAATGAAGCTGG	0.612													C	45946107	A	C	45946107	2	2	58	1	0	0	0	0	0	0	0	1	6962	349	13	5		5	GYLTL1B	11	45946107	Silent	SNP	A	TCGA-06-0686-01A-01W-0348-08	40416240	45946107	89060409	51	3666											
OR4S2	219431	broad.mit.edu	37	chr11	55419288	55419288	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaactgtggggcagaaaTgttttcttggaggctaaagg	13	10	14	4	0	1	2	0	0	1	2	1	3	1	3	0	5	1	3	0	5	5	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:55419288T>A	uc001nhs.1	+	0	909	c.909T>A	c.(907-909)aaT>aaA	p.N303K		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GGGGCAGAAATGTTTTCTTGG	0.358													A	55419288	T	A	55419288	3	1	58	1	0	0	0	0	1	0	0	0	11159	1461	51	5	911	5	OR4S2	11	55419288	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	9473181	55419288	79587228	52	3667											
MRE11A	4361	broad.mit.edu	37	chr11	94192689	94192689	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttctcctccttgtccAcaaattcttgtactgcttca	7	17	3	14	0	4	0	1	0	3	0	7	0	6	0	3	0	2	2	3	0	2	6			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94192689A>T	uc009ywj.2	-	12	1714	c.1394T>A	c.(1393-1395)gTg>gAg	p.V465E	MRE11A_uc001peu.2_Missense_Mutation_p.V462E|MRE11A_uc001pev.2_Missense_Mutation_p.V462E			P49959	MRE11_HUMAN	Homo sapiens MRE11 meiotic recombination 11 homolog A (S. cerevisiae) (MRE11A), transcript variant 1, mRNA.	462					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTCCTTGTCCACAAATTCTTG	0.398								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				T	94192689	A	T	94192689	3	4	58	1	0	0	0	0	1	0	0	0	9835	159	6	5	773	5	MRE11A	11	94192689	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	38773401	94192689	40813827	53	3668											
PIWIL4	143689	broad.mit.edu	37	chr11	94328516	94328516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatttccagctgatgaagGctgtggctgaaaagacacgt	11	10	12	8	1	0	5	0	4	0	1	1	5	1	5	1	2	1	3	1	2	3	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr11:94328516G>A	uc001pfa.3	+	9	1403	c.1192G>A	c.(1192-1194)Gct>Act	p.A398T	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	398					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTGATGAAGGCTGTGGCTGA	0.502													A	94328516	G	A	94328516	3	1	58	1	0	0	0	0	1	0	0	0	12037	1203	42	2	1230	2	PIWIL4	11	94328516	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	135827	94328516	40678000	54	3669											
INHBE	83729	broad.mit.edu	37	chr12	57849443	57849443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccccaagcagaacgagctCtggtgctggagctagccaag	11	5	12	13	1	1	1	0	0	1	1	1	3	1	2	3	2	6	4	3	2	4	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr12:57849443C>G	uc001snw.3	+	0	348	c.124C>G	c.(124-126)Ctg>Gtg	p.L42V		NM_031479	NP_113667	P58166	INHBE_HUMAN	Homo sapiens inhibin, beta E (INHBE), mRNA.	42					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						AGAACGAGCTCTGGTGCTGGA	0.622													G	57849443	C	G	57849443	3	3	58	1	0	0	0	0	1	0	0	0	7802	912	32	4	126	4	INHBE	12	57849443	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		57849443	76002452	55	3670											
KCNRG	283518	broad.mit.edu	37	chr13	50589662	50589662	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtcactttgaatgtGggagggaagatattcacgac	12	10	13	6	1	2	2	2	1	0	1	2	6	2	4	0	3	1	0	0	3	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:50589662G>C	uc001vdu.3	+	0	273	c.33G>C	c.(31-33)gtG>gtC	p.V11V	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Silent_p.V11V|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	11	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity	p.V11M(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		CTTTGAATGTGGGAGGGAAGA	0.433													C	50589662	G	C	50589662	2	2	58	1	0	0	0	0	0	0	0	1	8145	1335	47	4		4	KCNRG	13	50589662	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08		50589662	64580216	56	3671											
NEK3	4752	broad.mit.edu	37	chr13	52715184	52715184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttcatttcccaaagctAtcctgattctgctggggttt	6	17	8	10	0	2	1	1	1	1	0	4	1	4	1	2	2	3	4	2	2	2	6			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr13:52715184A>G	uc001vgh.3	-						NEK3_uc001vgi.3_Missense_Mutation_p.I299T|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Intron	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.						cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TCCCAAAGCTATCCTGATTCT	0.428													G	52715184	A	G	52715184	3	3	58	1	0	0	0	0	1	0	0	0	10401	449	16	3	645	3	NEK3	13	52715184	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	2125522	52715184	62454694	57	3672											
CTSG	1511	broad.mit.edu	37	chr14	25043567	25043567	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactctcagctgcacctctcGgagtgtatctgttcccctcc	5	12	7	17	1	3	0	1	0	3	0	7	1	5	1	4	1	2	4	4	1	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:25043567G>A	uc001wpq.3	-	3	515	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	160	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R160*(2)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGCACCTCTCGGAGTGTATCT	0.642													A	25043567	G	A	25043567	4	1	58	1	0	0	0	0	0	1	0	0	4068	1124	39	1	297	1	CTSG	14	25043567	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		25043567	82305973	58	3673											
CLMN	79789	broad.mit.edu	37	chr14	95669370	95669370	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgagagccatcggcctcCtcctccctggagtccaggtc	5	9	10	17	1	1	1	0	1	1	1	7	3	5	2	6	3	1	0	6	3	0	0			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:95669370C>G	uc001yef.2	-	8	2432	c.2316G>C	c.(2314-2316)gaG>gaC	p.E772D		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	772						integral to membrane	actin binding	p.E771K(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CATCGGCCTCCTCCTCCCTGG	0.567													G	95669370	C	G	95669370	3	3	58	1	0	0	0	0	1	0	0	0	3573	680	24	4	712	4	CLMN	14	95669370	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	70625803	95669370	11680170	59	3674											
HHIPL1	84439	broad.mit.edu	37	chr14	100118755	100118755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttctgccgctacctgtcCctggatgacacggactactg	7	10	11	13	2	1	1	0	1	1	0	2	3	2	3	3	3	3	2	3	3	2	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr14:100118755C>T	uc010avs.3	+	1	515	c.450C>T	c.(448-450)tcC>tcT	p.S150S	HHIPL1_uc001ygl.1_Silent_p.S150S	NM_001127258	NP_001120730	Q96JK4	HIPL1_HUMAN	Homo sapiens HHIP-like 1 (HHIPL1), transcript variant 1, mRNA.	150					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GCTACCTGTCCCTGGATGACA	0.602													T	100118755	C	T	100118755	2	4	58	1	0	0	0	0	0	0	0	1	7148	610	22	2		2	HHIPL1	14	100118755	Silent	SNP	C	TCGA-06-0686-01A-01W-0348-08	4449385	100118755	7230785	60	3675											
ZNF609	23060	broad.mit.edu	37	chr15	64966530	64966530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaactgcccctcccccGtcctaattgactgtccccac	9	8	5	19	1	0	2	0	1	0	1	3	2	3	2	7	0	2	0	7	0	2	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:64966530G>A	uc002ann.3	+	3	1477	c.1477G>A	c.(1477-1479)Gtc>Atc	p.V493I		NM_015042	NP_055857	O15014	ZN609_HUMAN	Homo sapiens zinc finger protein 609 (ZNF609), mRNA.	493						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCTCCCCCGTCCTAATTGA	0.522													A	64966530	G	A	64966530	3	1	58	1	0	0	0	0	1	0	0	0	18136	1145	40	1	1491	1	ZNF609	15	64966530	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		64966530	37564862	61	3676											
ISLR	3671	broad.mit.edu	37	chr15	74468444	74468444	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggcctgctcctgctGggccaaagcctcctcctctt	4	9	8	20	0	1	0	0	0	1	0	4	0	4	0	8	2	3	2	8	2	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:74468444G>C	uc002axg.1	+	1	1527	c.1245G>C	c.(1243-1245)ctG>ctC	p.L415L	ISLR_uc002axh.1_Silent_p.L415L|ISLR_uc021sqf.1_Silent_p.L415L	NM_005545	NP_958934	O14498	ISLR_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat (ISLR), transcript variant 1, mRNA.	415					cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						TGCTCCTGCTGGGCCAAAGCC	0.617													C	74468444	G	C	74468444	2	2	58	1	0	0	0	0	0	0	0	1	7916	1335	47	4		4	ISLR	15	74468444	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	9501914	74468444	28062948	62	3677											
ARNT2	9915	broad.mit.edu	37	chr15	80845010	80845010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgtatgcatggacatGaatgggatgtcggtgcccac	8	11	12	10	1	1	1	0	1	1	0	3	3	1	3	2	3	2	2	2	3	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:80845010G>T	uc002bfr.3	+	9	1150	c.984G>T	c.(982-984)atG>atT	p.M328I	ARNT2_uc010unm.2_Missense_Mutation_p.M317I|ARNT2_uc002bfs.3_Missense_Mutation_p.M317I	NM_014862	NP_055677	Q9HBZ2	ARNT2_HUMAN	Homo sapiens aryl-hydrocarbon receptor nuclear translocator 2 (ARNT2), mRNA.	328	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.M328I(2)		NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			GCATGGACATGAATGGGATGT	0.493													T	80845010	G	T	80845010	3	4	58	1	0	0	0	0	1	0	0	0	971	1290	45	4	1022	4	ARNT2	15	80845010	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	6376566	80845010	21686382	63	3678											
C15orf26	161502	broad.mit.edu	37	chr15	81428924	81428924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgcttgtgaatcctgAtgatcctgacacagaagctg	11	11	11	8	0	0	6	0	5	0	1	2	6	2	6	2	0	2	2	2	0	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr15:81428924A>G	uc002bgb.3	+	2	254	c.227A>G	c.(226-228)gAt>gGt	p.D76G	C15orf26_uc010blp.1_Missense_Mutation_p.D51G	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	76										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						GTGAATCCTGATGATCCTGAC	0.408													G	81428924	A	G	81428924	3	3	58	1	0	0	0	0	1	0	0	0	1800	333	12	3	237	3	C15orf26	15	81428924	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	583914	81428924	21102468	64	3679											
PAQR4	124222	broad.mit.edu	37	chr16	3021597	3021597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggctacactgtgttgtCgggtgtggccggctggcgtg	2	11	20	8	3	0	0	0	0	0	0	1	0	0	0	1	6	1	3	1	6	1	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:3021597C>T	uc002csj.4	+	2	804	c.470C>T	c.(469-471)tCg>tTg	p.S157L	PAQR4_uc002csk.4_Missense_Mutation_p.S118L|PAQR4_uc002csl.4_Missense_Mutation_p.S83L|PAQR4_uc010uwm.2_Missense_Mutation_p.S88L	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	157						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACTGTGTTGTCGGGTGTGGCC	0.687													T	3021597	C	T	3021597	3	4	58	1	0	0	0	0	1	0	0	0	11513	893	31	1	480	1	PAQR4	16	3021597	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		3021597	87333156	65	3680											
MYH11	4629	broad.mit.edu	37	chr16	15841499	15841499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcaaatctcgctccTcctctaggtgggccaggacg	7	11	10	13	2	4	1	1	1	3	0	7	2	6	2	3	3	0	1	3	3	2	2			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:15841499T>C	uc002ddx.3	-	19	2467	c.2360A>G	c.(2359-2361)gAg>gGg	p.E787G	MYH11_uc002ddv.3_Missense_Mutation_p.E787G|MYH11_uc002ddw.3_Missense_Mutation_p.E780G|MYH11_uc002ddy.3_Missense_Mutation_p.E780G|MYH11_uc010bvg.3_Missense_Mutation_p.E612G	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	780	IQ.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	p.I786T(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATCTCGCTCCTCCTCTAGGTG	0.498			T	CBFB	AML								C	15841499	T	C	15841499	3	2	58	1	0	0	0	0	1	0	0	0	10107	1551	54	3	3706	3	MYH11	16	15841499	Missense_Mutation	SNP	T	TCGA-06-0686-01A-01W-0348-08	12819902	15841499	74513254	66	3681											
RBBP6	5930	broad.mit.edu	37	chr16	24582927	24582927	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcatctggacagaaaaatAaaccaagggaagagagagat	19	5	11	6	0	1	3	0	0	1	3	1	7	1	5	1	2	2	1	1	2	6	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:24582927A>C	uc002dmh.3	+	17	5580	c.4540A>C	c.(4540-4542)Aaa>Caa	p.K1514Q	RBBP6_uc002dmi.3_Missense_Mutation_p.K1480Q|RBBP6_uc010bxr.3_Missense_Mutation_p.K674Q|RBBP6_uc002dmk.3_Missense_Mutation_p.K1347Q	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1514	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ACAGAAAAATAAACCAAGGGA	0.368													C	24582927	A	C	24582927	3	2	58	1	0	0	0	0	1	0	0	0	13191	363	13	5	4664	5	RBBP6	16	24582927	Missense_Mutation	SNP	A	TCGA-06-0686-01A-01W-0348-08	8741428	24582927	65771826	67	3682											
RNF40	9810	broad.mit.edu	37	chr16	30774800	30774800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggggagctgtcttcagCgcctgaggcacctgggaccc	6	6	15	14	1	2	1	1	1	1	0	2	3	2	3	4	4	2	2	4	4	0	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:30774800C>A	uc002dzq.3	+	3	1182	c.362C>A	c.(361-363)gCg>gAg	p.A121E	C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Missense_Mutation_p.A121E|RNF40_uc010cab.3_Missense_Mutation_p.A121E|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Missense_Mutation_p.A121E	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	121					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CTGTCTTCAGCGCCTGAGGCA	0.562													A	30774800	C	A	30774800	3	1	58	1	0	0	0	0	1	0	0	0	13584	768	27	4	372	4	RNF40	16	30774800	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	6191873	30774800	59579953	68	3683											
ZNF23	7571	broad.mit.edu	37	chr16	71483233	71483233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgggaactgtagctgaagCttttcccacactccacacat	12	10	7	12	0	0	1	0	1	0	0	2	2	2	2	2	1	3	3	2	1	4	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr16:71483233C>A	uc002faf.3	-	5	1509	c.695G>T	c.(694-696)aGc>aTc	p.S232I	ZNF23_uc002fah.3_Missense_Mutation_p.S232I|ZNF23_uc002fad.3_Missense_Mutation_p.S174I|ZNF23_uc010vmf.2_Missense_Mutation_p.S174I|ZNF23_uc002fag.3_Missense_Mutation_p.S174I|ZNF23_uc002fai.3_Missense_Mutation_p.S271I	NM_145911	NP_666016	P17027	ZNF23_HUMAN	Homo sapiens zinc finger protein 23 (KOX 16) (ZNF23), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		GTAGCTGAAGCTTTTCCCACA	0.448													A	71483233	C	A	71483233	3	1	58	1	0	0	0	0	1	0	0	0	17884	797	28	4	1240	4	ZNF23	16	71483233	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	40708433	71483233	18871520	69	3684											
SMARCD2	6603	broad.mit.edu	37	chr17	61912798	61912798	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagttttccttccactcGgagttcccaggaagccacct	8	10	8	15	1	0	0	0	0	0	0	4	2	3	2	5	2	2	3	5	2	1	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:61912798G>A	uc010deb.1	-	4	1014	c.697C>T	c.(697-699)Cga>Tga	p.R233*	SMARCD2_uc010wpt.1_Nonsense_Mutation_p.R185*|SMARCD2_uc010dea.1_Nonsense_Mutation_p.R158*	NM_001098426	NP_001091896	Q92925	SMRD2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2 (SMARCD2), mRNA.	233					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CCTTCCACTCGGAGTTCCCAG	0.572													A	61912798	G	A	61912798	4	1	58	1	0	0	0	0	0	1	0	0	14872	1124	39	1	934	1	SMARCD2	17	61912798	Nonsense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08		61912798	19282412	70	3685											
ABCA8	10351	broad.mit.edu	37	chr17	66928560	66928560	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaaaaggtacaaatcAgttataactcctgattgacc	17	9	7	8	0	1	2	1	2	0	0	2	3	2	3	2	2	2	2	2	2	7	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:66928560A>T	uc002jhq.3	-	6	1006	c.666T>A	c.(664-666)acT>acA	p.T222T	ABCA8_uc002jhp.3_Silent_p.T222T|ABCA8_uc010wqq.2_Silent_p.T222T|ABCA8_uc010wqr.2_Silent_p.T161T|ABCA8_uc002jhr.3_Silent_p.T222T|ABCA8_uc002jhs.3_Silent_p.T222T|ABCA8_uc002jht.3_Silent_p.T222T	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	222						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GGTACAAATCAGTTATAACTC	0.363													T	66928560	A	T	66928560	2	4	58	1	0	0	0	0	0	0	0	1	38	175	7	5		5	ABCA8	17	66928560	Silent	SNP	A	TCGA-06-0686-01A-01W-0348-08	5015762	66928560	14266650	71	3686											
CD7	924	broad.mit.edu	37	chr17	80274786	80274786	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatcccacgcaggccccCgctggtggagcaggtgatgt	7	7	15	12	2	0	2	0	1	0	1	1	3	1	3	3	4	1	4	3	4	1	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr17:80274786C>A	uc002kel.1	-	1	263	c.154G>T	c.(154-156)Ggg>Tgg	p.G52W	CD7_uc010din.3_Missense_Mutation_p.G52W|CD7_uc010wvk.1_Missense_Mutation_p.G52W	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	52	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity	p.S51S(1)		endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CGCAGGCCCCCGCTGGTGGAG	0.647													A	80274786	C	A	80274786	3	1	58	1	0	0	0	0	1	0	0	0	3062	652	23	4	580	4	CD7	17	80274786	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	13346226	80274786	920424	72	3687											
MUC16	94025	broad.mit.edu	37	chr19	9015333	9015333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacctgagcaaggtcagtCtgcagccagagtacagaggg	11	6	13	11	0	3	3	2	1	1	2	3	3	3	3	2	2	4	3	2	2	2	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:9015333C>T	uc002mkp.3	-	29	38459	c.38255G>A	c.(38254-38256)aGa>aAa	p.R12752K	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12754	SEA 5.			Missing (in Ref. 3; AAK74120).	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						CAAGGTCAGTCTGCAGCCAGA	0.517													T	9015333	C	T	9015333	3	4	58	1	0	0	0	0	1	0	0	0	10049	913	32	2	5488	2	MUC16	19	9015333	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		9015333	50113650	73	3688											
CYP4F3	4051	broad.mit.edu	37	chr19	15758065	15758065	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaccgtcggatgctgacGcctgccttccatttcaacat	7	10	8	16	4	1	1	1	1	0	0	3	2	2	2	5	1	3	1	5	1	1	2	rs138865516		TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:15758065G>A	uc010xok.2	+	4	506	c.456G>A	c.(454-456)acG>acA	p.T152T	CYP4F3_uc010xol.2_Silent_p.T152T|CYP4F3_uc002nbj.3_Silent_p.T152T|CYP4F3_uc010xom.2_Silent_p.T3T|CYP4F3_uc002nbk.3_Silent_p.T152T|CYP4F3_uc010xon.2_5'Flank	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	152					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GGATGCTGACGCCTGCCTTCC	0.552													A	15758065	G	A	15758065	2	1	58	1	0	0	0	0	0	0	0	1	4223	1074	38	1		1	CYP4F3	19	15758065	Silent	SNP	G	TCGA-06-0686-01A-01W-0348-08	6742732	15758065	43370918	74	3689											
ZNF493	284443	broad.mit.edu	37	chr19	21606980	21606980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcttcaacccttagtataCataaaataattcatactgga	17	13	3	8	0	3	0	2	0	1	0	3	1	3	1	1	1	3	1	1	1	9	8			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:21606980C>T	uc002npw.3	+	3	1638	c.1519C>T	c.(1519-1521)Cat>Tat	p.H507Y	ZNF493_uc002npx.3_Missense_Mutation_p.H379Y|ZNF493_uc002npy.3_Missense_Mutation_p.H379Y|ZNF493_uc021urq.1_Missense_Mutation_p.H379Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTAGTATACATAAAATAAT	0.328													T	21606980	C	T	21606980	3	4	58	1	0	0	0	0	1	0	0	0	18045	478	17	2	1596	2	ZNF493	19	21606980	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	5848915	21606980	37522003	75	3690											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733609	56733609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcttctctctccacaaCgcaggcagaaggtgtgtcag	10	8	11	12	2	3	1	1	0	2	1	5	2	3	1	1	2	2	3	1	2	3	1			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr19:56733609C>T	uc002qmq.3	-	4	992	c.826G>A	c.(826-828)Gtt>Att	p.V276I	ZSCAN5A_uc010ygi.2_Missense_Mutation_p.V159I|ZSCAN5A_uc002qmr.3_Missense_Mutation_p.V276I|ZSCAN5A_uc002qms.1_Missense_Mutation_p.V275I	NM_024303	NP_077279	Q9BUG6	ZSA5A_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5A (ZSCAN5A), mRNA.	276					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CTCTCCACAACGCAGGCAGAA	0.527													T	56733609	C	T	56733609	3	4	58	1	0	0	0	0	1	0	0	0	18335	536	19	1	668	1	ZSCAN5A	19	56733609	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	35126629	56733609	2395374	76	3691											
GRIK1	2897	broad.mit.edu	37	chr21	31023612	31023612	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccaaagcaaataagtcCtgcatagtatcaaaaaggat	19	8	7	7	0	1	1	1	0	0	1	3	2	3	2	2	1	2	3	2	1	7	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:31023612C>T	uc002yno.1	-	6	1245	c.781_splice	c.e6-1	p.D261_splice	GRIK1_uc002ynn.3_Splice_Site_p.D261_splice|GRIK1_uc011acs.2_Splice_Site_p.D261_splice|GRIK1_uc011act.2_Splice_Site_p.D205_splice|GRIK1_uc010glq.1_Splice_Site_p.D119_splice|GRIK1_uc002ynr.3_Splice_Site_p.D261_splice	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	261					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CAAATAAGTCCTGCATAGTAT	0.353													T	31023612	C	T	31023612	5	4	58	1	0	0	0	0	0	0	1	0	6828	695	24	2	2184	2	GRIK1	21	31023612	Splice_Site	SNP	C	TCGA-06-0686-01A-01W-0348-08		31023612	17106283	77	3692											
CBS	875	broad.mit.edu	37	chr21	44478273	44478273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgtttgaactgcttgtaGatgactttgccaacttggtc	8	15	9	9	0	0	3	0	2	0	1	1	3	0	3	2	1	4	3	2	1	3	5			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chr21:44478273G>C	uc002zcu.2	-	14	1694	c.1449C>G	c.(1447-1449)atC>atG	p.I483M	CBS_uc002zcs.1_Missense_Mutation_p.I378M|CBS_uc002zct.2_Missense_Mutation_p.I483M|CBS_uc002zcw.3_Missense_Mutation_p.I483M|CBS_uc002zcv.2_Missense_Mutation_p.I483M	NM_000071	NP_001171480	P35520	CBS_HUMAN	Homo sapiens cystathionine-beta-synthase (CBS), transcript variant 1, mRNA.	483					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	ACTGCTTGTAGATGACTTTGC	0.567													C	44478273	G	C	44478273	3	2	58	1	0	0	0	0	1	0	0	0	2737	932	33	4	218	4	CBS	21	44478273	Missense_Mutation	SNP	G	TCGA-06-0686-01A-01W-0348-08	13454661	44478273	3651622	78	3693											
BMP15	9210	broad.mit.edu	37	chrX	50659431	50659431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgcgatggtctcaattccCccaatcacgccattattcag	10	11	6	14	3	3	0	3	0	1	0	5	1	4	0	3	1	1	0	3	1	4	4			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:50659431C>A	uc011mnw.2	+	1	1052	c.1003C>A	c.(1003-1005)Ccc>Acc	p.P335T		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	335					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					TCTCAATTCCCCCAATCACGC	0.502													A	50659431	C	A	50659431	3	1	58	1	0	0	0	0	1	0	0	0	1464	623	22	4	1009	4	BMP15	23	50659431	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08		50659431	104611129	79	3694											
BCORL1	63035	broad.mit.edu	37	chrX	129162640	129162640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgtaagcagaagacttcctCctcccaaagtttggagcacc	11	8	8	14	1	0	2	0	0	0	2	3	3	3	3	5	1	2	4	5	1	3	3			TCGA-06-0686-01A-01W-0348-08	TCGA-06-0686-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4af220fa-c00b-40b1-ae82-b2c256a3d3fe	ef3a66de-f4db-4ef4-8737-bbd7ae26cb67	g.chrX:129162640C>T	uc022cdu.1	+	6	4153	c.4109C>T	c.(4108-4110)tCc>tTc	p.S1370F	BCORL1_uc010nrd.1_Missense_Mutation_p.S1142F|BCORL1_uc004evc.2_Missense_Mutation_p.S132F	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	1370					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AAGACTTCCTCCTCCCAAAGT	0.483											OREG0019921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	129162640	C	T	129162640	3	4	58	1	0	0	0	0	1	0	0	0	1392	855	30	2	4135	2	BCORL1	23	129162640	Missense_Mutation	SNP	C	TCGA-06-0686-01A-01W-0348-08	78503209	129162640	26107920	80	3695											
ARHGEF16	27237	broad.mit.edu	37	chr1	3389688	3389688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaggcccaggtgctggtcGaggacatcagtgacatcctg	10	7	13	11	1	1	1	1	1	0	0	3	3	2	2	2	4	1	1	2	4	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:3389688G>A	uc001akg.4	+	6	1317	c.1069G>A	c.(1069-1071)Gag>Aag	p.E357K	ARHGEF16_uc001aki.3_Missense_Mutation_p.E69K|ARHGEF16_uc001akj.3_Missense_Mutation_p.E69K|ARHGEF16_uc009vli.1_Missense_Mutation_p.E61K|ARHGEF16_uc010nzh.2_Missense_Mutation_p.E61K	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	357	DH.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GGTGCTGGTCGAGGACATCAG	0.632													A	3389688	G	A	3389688	3	1	59	1	0	0	0	0	1	0	0	0	902	1059	37	1	1091	1	ARHGEF16	1	3389688	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		3389688	245860933	1	3696											
MAST2	23139	broad.mit.edu	37	chr1	46500629	46500629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctcgcaagcacagcCttgacctgccccactctgaa	9	8	6	18	1	2	2	0	2	2	0	3	2	2	2	5	0	3	2	5	0	2	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:46500629C>T	uc001cov.3	+	28	4571	c.4288C>T	c.(4288-4290)Ctt>Ttt	p.L1430F	MAST2_uc001cow.3_Missense_Mutation_p.L1429F|MAST2_uc001cpa.3_Non-coding_Transcript	NM_015112	NP_055927	Q6P0Q8	MAST2_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 2 (MAST2), mRNA.	1430					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CAAGCACAGCCTTGACCTGCC	0.592													T	46500629	C	T	46500629	3	4	59	1	0	0	0	0	1	0	0	0	9400	681	24	2	4402	2	MAST2	1	46500629	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	43110941	46500629	202749992	2	3697											
CC2D1B	200014	broad.mit.edu	37	chr1	52820329	52820329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagccgctccagtttcAggtgtgctgtgccaaccagc	6	10	10	15	1	2	0	1	0	1	0	4	0	3	0	5	1	5	3	5	1	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:52820329A>G	uc001ctq.2	-	22	2550	c.2399T>C	c.(2398-2400)cTg>cCg	p.L800P	CC2D1B_uc001ctr.3_Missense_Mutation_p.L340P|CC2D1B_uc001cts.3_Missense_Mutation_p.L485P	NM_032449	NP_115825	Q5T0F9	C2D1B_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1B (CC2D1B), mRNA.	800										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CTCCAGTTTCAGGTGTGCTGT	0.567													G	52820329	A	G	52820329	3	3	59	1	0	0	0	0	1	0	0	0	2753	188	7	3	185	3	CC2D1B	1	52820329	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08	6319700	52820329	196430292	3	3698											
PIAS3	10401	broad.mit.edu	37	chr1	145584562	145584562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggggatttcctgtccaGtctcccactacatgagtacc	7	11	11	12	0	1	1	0	1	1	0	4	2	3	2	4	3	2	1	4	3	2	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:145584562G>A	uc001eoc.1	+	11	1620	c.1529G>A	c.(1528-1530)aGt>aAt	p.S510N	PIAS3_uc001eod.1_Missense_Mutation_p.S179N	NM_006099	NP_006090	Q9Y6X2	PIAS3_HUMAN	Homo sapiens protein inhibitor of activated STAT, 3 (PIAS3), mRNA.	510					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TTCCTGTCCAGTCTCCCACTA	0.592													A	145584562	G	A	145584562	3	1	59	1	0	0	0	0	1	0	0	0	11954	1029	36	2	1575	2	PIAS3	1	145584562	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	92764233	145584562	103666059	4	3699											
FLG	2312	broad.mit.edu	37	chr1	152286200	152286200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctgctgactgctggtGgccggatccatgtctttctc	3	14	12	12	1	3	1	0	1	3	0	5	2	4	2	2	3	2	3	2	3	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152286200G>T	uc001ezu.1	-	2	1198	c.1162C>A	c.(1162-1164)Cac>Aac	p.H388N	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	388	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G387D(1)|p.G387R(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTGCTGGTGGCCGGATCCA	0.577									Ichthyosis				T	152286200	G	T	152286200	3	4	59	1	0	0	0	0	1	0	0	0	5971	1348	47	4	11027	4	FLG	1	152286200	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	6701638	152286200	96964421	5	3700											
FLG2	388698	broad.mit.edu	37	chr1	152323312	152323312	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagatctggaacctgtcTgtgtggattgtccataacca	10	13	9	9	0	2	1	0	0	2	1	3	3	3	3	3	2	3	0	3	2	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152323312T>G	uc001ezw.4	-	2	7023	c.6950A>C	c.(6949-6951)cAg>cCg	p.Q2317P	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2317							calcium ion binding|structural molecule activity	p.Q2317K(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAACCTGTCTGTGTGGATTG	0.463													G	152323312	T	G	152323312	3	3	59	1	0	0	0	0	1	0	0	0	5972	1580	55	5	229	5	FLG2	1	152323312	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	37112	152323312	96927309	6	3701											
LCE3E	353145	broad.mit.edu	37	chr1	152538509	152538509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccggcatcggtggtggCgcctgtggtggttcaggaag	4	8	20	9	4	1	0	1	0	0	0	2	1	1	1	2	8	0	2	2	8	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:152538509C>T	uc021oyz.1	-	0	176	c.176G>A	c.(175-177)cGc>cAc	p.R59H	LCE3E_uc001faa.3_Missense_Mutation_p.R59H	NM_178435	NP_848522	Q5T5B0	LCE3E_HUMAN	Homo sapiens late cornified envelope 3E (LCE3E), mRNA.	59					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		TCGGTGGTGGCGCCTGTGGTG	0.682													T	152538509	C	T	152538509	3	4	59	1	0	0	0	0	1	0	0	0	8732	768	27	1	106	1	LCE3E	1	152538509	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	215197	152538509	96712112	7	3702											
CD5L	922	broad.mit.edu	37	chr1	157805716	157805716	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatcttctgttcctgtgcaActgactgattggatgaggac	8	14	11	8	0	2	3	0	3	2	0	3	5	3	5	1	2	2	3	1	2	2	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:157805716A>G	uc001frk.4	-	2	428	c.285T>C	c.(283-285)agT>agC	p.S95S		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	95	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TTCCTGTGCAACTGACTGATT	0.493													G	157805716	A	G	157805716	2	3	59	1	0	0	0	0	0	0	0	1	3057	40	2	3		3	CD5L	1	157805716	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	5267207	157805716	91444905	8	3703											
ZNF124	7678	broad.mit.edu	37	chr1	247320190	247320190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgcaaggaactgagaCaactgaaagctttgccacat	13	9	9	10	0	0	2	0	2	0	1	1	4	1	3	2	1	5	2	2	1	4	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:247320190C>T	uc001ick.3	-	3	873	c.734G>A	c.(733-735)tGt>tAt	p.C245Y	ZNF124_uc001ici.3_Intron|ZNF124_uc001icj.1_Missense_Mutation_p.C183Y	NM_003431	NP_003422	Q15973	ZN124_HUMAN	Homo sapiens zinc finger protein 124 (ZNF124), transcript variant 1, mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R244C(1)		biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GGAACTGAGACAACTGAAAGC	0.458													T	247320190	C	T	247320190	3	4	59	1	0	0	0	0	1	0	0	0	17821	478	17	2	325	2	ZNF124	1	247320190	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	89514474	247320190	1930431	9	3704											
PGBD2	267002	broad.mit.edu	37	chr1	249212440	249212440	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgatatgattgggcacTggattatccatcaggacaag	11	11	11	8	1	1	1	1	1	0	0	3	4	2	3	1	3	0	2	1	3	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr1:249212440T>A	uc001ifh.3	+	2	1804	c.1657T>A	c.(1657-1659)Tgg>Agg	p.W553R	PGBD2_uc001ifg.3_Missense_Mutation_p.W302R|PGBD2_uc009xhd.3_Missense_Mutation_p.W550R|PGBD2_uc021pmh.1_Missense_Mutation_p.W302R	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	553										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GATTGGGCACTGGATTATCCA	0.547													A	249212440	T	A	249212440	3	1	59	1	0	0	0	0	1	0	0	0	11858	1580	55	5	1663	5	PGBD2	1	249212440	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	1892250	249212440	38181	10	3705											
GALNT5	11227	broad.mit.edu	37	chr2	158165160	158165160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatccctgataaaggagccGtaaggctgcacccttgtgat	10	9	10	12	1	0	2	0	2	0	0	1	3	1	3	4	2	2	3	4	2	3	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:158165160G>A	uc002tzg.3	+	8	2857	c.2602G>A	c.(2602-2604)Gta>Ata	p.V868I	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	868	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						TAAAGGAGCCGTAAGGCTGCA	0.408													A	158165160	G	A	158165160	3	1	59	1	0	0	0	0	1	0	0	0	6270	1145	40	1	2636	1	GALNT5	2	158165160	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		158165160	85034213	11	3706											
TTN	7273	broad.mit.edu	37	chr2	179553840	179553840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactttctcctctgggaCgggtttcttaggcagagctg	6	13	12	10	1	3	1	0	0	3	1	4	2	3	2	1	3	3	4	1	3	2	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:179553840C>T	uc021vsy.1	-	121	28528	c.28303G>A	c.(28303-28305)Gtc>Atc	p.V9435I	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6096I|TTN_uc010fre.1_Missense_Mutation_p.V546I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10362	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCTCTGGGACGGGTTTCTTA	0.428													T	179553840	C	T	179553840	3	4	59	1	0	0	0	0	1	0	0	0	16837	536	19	1	72446	1	TTN	2	179553840	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	21388680	179553840	63645533	12	3707											
CCDC108	255101	broad.mit.edu	37	chr2	219892442	219892442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggctggaagtgcaggCgcatggccatggacttgagt	8	7	18	8	2	0	1	0	1	0	0	0	4	0	3	1	6	1	3	1	6	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:219892442C>T	uc002vjl.1	-	12	2225	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CCDC108_uc010fwa.1_Missense_Mutation_p.R157H|CCDC108_uc010zkp.1_Missense_Mutation_p.R703H|CCDC108_uc010zkq.1_Missense_Mutation_p.R649H	NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	714						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAAGTGCAGGCGCATGGCCAT	0.597													T	219892442	C	T	219892442	3	4	59	1	0	0	0	0	1	0	0	0	2769	768	27	1	3728	1	CCDC108	2	219892442	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	40338602	219892442	23306931	13	3708											
COL6A3	1293	broad.mit.edu	37	chr2	238289831	238289831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcggcagcccggtagcCggctgaactcgtgaataggt	7	7	13	14	4	0	2	0	2	0	0	2	2	0	2	4	4	3	3	4	4	4	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:238289831C>T	uc002vwl.2	-	4	1909	c.1624G>A	c.(1624-1626)Ggc>Agc	p.G542S	COL6A3_uc002vwo.2_Missense_Mutation_p.G336S|COL6A3_uc010znj.1_Missense_Mutation_p.G135S|COL6A3_uc002vwq.3_Missense_Mutation_p.G336S|COL6A3_uc002vwr.3_Missense_Mutation_p.G135S|COL6A3_uc010znk.1_Missense_Mutation_p.G542S	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	542	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A541A(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCCGGTAGCCGGCTGAACTC	0.557													T	238289831	C	T	238289831	3	4	59	1	0	0	0	0	1	0	0	0	3732	652	23	1	8116	1	COL6A3	2	238289831	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	18397389	238289831	4909542	14	3709											
PER2	8864	broad.mit.edu	37	chr2	239161798	239161798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaagcacatggctgtctggGgatcgaggtccggctgggga	8	7	17	9	2	1	0	0	0	1	0	3	3	2	2	1	7	1	3	1	7	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:239161798G>A	uc002vyc.3	-	18	3103	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	PER2_uc010znv.1_Missense_Mutation_p.P956S	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	956	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GGCTGTCTGGGGATCGAGGTC	0.667													A	239161798	G	A	239161798	3	1	59	1	0	0	0	0	1	0	0	0	11806	1232	43	2	921	2	PER2	2	239161798	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	871967	239161798	4037575	15	3710											
AQP12A	375318	broad.mit.edu	37	chr2	241631371	241631371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctccttcttctttgccaCcttcgccctctgtgaggcgg	2	14	8	17	2	4	1	0	1	4	0	6	1	4	1	5	2	1	0	5	2	0	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr2:241631371C>T	uc002vzu.3	+	0	110	c.41C>T	c.(40-42)aCc>aTc	p.T14I	AQP12A_uc002vzv.3_Intron	NM_198998	NP_945349	Q8IXF9	AQ12A_HUMAN	Homo sapiens aquaporin 12A (AQP12A), mRNA.	14						integral to membrane	transporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(7)	14		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TTCTTTGCCACCTTCGCCCTC	0.677													T	241631371	C	T	241631371	3	4	59	1	0	0	0	0	1	0	0	0	827	507	18	2	43	2	AQP12A	2	241631371	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	2469573	241631371	1568002	16	3711											
PLCD1	5333	broad.mit.edu	37	chr3	38050824	38050824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccatctcgtagaaggcCtgtccaggggtgccaggact	8	7	14	12	2	1	1	0	0	1	1	3	3	2	2	4	4	1	1	4	4	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38050824C>A	uc003chm.3	-	9	1962	c.1608G>T	c.(1606-1608)caG>caT	p.Q536H	PLCD1_uc003chn.3_Missense_Mutation_p.Q515H	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	515	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CGTAGAAGGCCTGTCCAGGGG	0.577													A	38050824	C	A	38050824	3	1	59	1	0	0	0	0	1	0	0	0	12108	680	24	4	749	4	PLCD1	3	38050824	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		38050824	159971606	17	3712											
SCN10A	6336	broad.mit.edu	37	chr3	38783979	38783979	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatacttctgagacaagcTggtcaagcagggtgggcact	11	8	13	9	0	2	2	1	1	1	2	2	3	2	2	0	3	3	3	0	3	3	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:38783979T>A	uc003ciq.3	-	12	1909	c.1909A>T	c.(1909-1911)Agc>Tgc	p.S637C		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	637					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAGACAAGCTGGTCAAGCAG	0.512													A	38783979	T	A	38783979	3	1	59	1	0	0	0	0	1	0	0	0	14005	1580	55	5	4021	5	SCN10A	3	38783979	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	733155	38783979	159238451	18	3713											
ITIH3	3699	broad.mit.edu	37	chr3	52842629	52842629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggttgtctgctggttcGtccacaacaacggagaaggg	10	8	14	9	3	1	1	0	0	1	1	3	3	2	1	1	4	3	3	1	4	4	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:52842629G>A	uc003dfv.2	+	21	2641	c.2605G>A	c.(2605-2607)Gtc>Atc	p.V869I	ITIH3_uc011bek.1_Missense_Mutation_p.V677I	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	869					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.V869I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTGCTGGTTCGTCCACAACAA	0.537													A	52842629	G	A	52842629	3	1	59	1	0	0	0	0	1	0	0	0	7963	1145	40	1	2691	1	ITIH3	3	52842629	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	14058650	52842629	145179801	19	3714											
ALG1L	200810	broad.mit.edu	37	chr3	125651539	125651539	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttgtgtccatcaagagtAagttgttcaaactctgtgtt	10	15	10	6	0	3	1	2	0	1	1	4	1	4	1	1	1	1	5	1	1	3	5	rs147593769	by1000genomes	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:125651539A>C	uc021xdh.1	-	3	394	c.174T>G	c.(172-174)ctT>ctG	p.L58L	ALG1L_uc003eig.2_Silent_p.L38L	NM_001195223	NP_001182152	Q6GMV1	ALG1L_HUMAN	Homo sapiens asparagine-linked glycosylation 1-like (ALG1L), transcript variant 1, mRNA.	38							transferase activity, transferring glycosyl groups			large_intestine(2)|lung(2)	4						CATCAAGAGTAAGTTGTTCAA	0.423													C	125651539	A	C	125651539	2	2	59	1	0	0	0	0	0	0	0	1	517	349	13	5		5	ALG1L	3	125651539	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	72808910	125651539	72370891	20	3715											
NAALADL2	254827	broad.mit.edu	37	chr3	174951943	174951943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagccagaaaagatagcagCcaagacctgctctattcata	16	7	8	10	0	2	3	1	0	1	3	2	4	2	3	3	0	4	2	3	0	7	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:174951943C>G	uc003fit.3	+	2	855	c.768C>G	c.(766-768)agC>agG	p.S256R	NAALADL2_uc003fiu.1_Missense_Mutation_p.S249R|NAALADL2_uc010hwy.1_Missense_Mutation_p.S78R	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	256					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		AAGATAGCAGCCAAGACCTGC	0.463													G	174951943	C	G	174951943	3	3	59	1	0	0	0	0	1	0	0	0	10206	738	26	4	778	4	NAALADL2	3	174951943	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	49300404	174951943	23070487	21	3716											
YEATS2	55689	broad.mit.edu	37	chr3	183470006	183470006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcaccaataaagcagtCacatgagccagtacccgata	14	9	6	12	1	3	1	2	1	1	0	3	2	3	1	3	0	3	2	3	0	5	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:183470006C>T	uc003fly.2	+	9	1310	c.1115C>T	c.(1114-1116)tCa>tTa	p.S372L		NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	372					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATAAAGCAGTCACATGAGCCA	0.478													T	183470006	C	T	183470006	3	4	59	1	0	0	0	0	1	0	0	0	17574	838	29	2	1149	2	YEATS2	3	183470006	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	8518063	183470006	14552424	22	3717											
VPS8	23355	broad.mit.edu	37	chr3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagcagtacaagagaCgccaagaaatggctgatgaa	15	7	12	7	1	0	4	0	2	0	2	0	5	0	4	1	1	3	5	1	1	5	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr3:184714255C>T	uc021xik.1	+	42	3890	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_uc003fpb.1_Missense_Mutation_p.R1266C|VPS8_uc010hyd.1_Missense_Mutation_p.R1176C|VPS8_uc010hye.1_Missense_Mutation_p.R695C	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													T	184714255	C	T	184714255	3	4	59	1	0	0	0	0	1	0	0	0	17320	536	19	1	3968	1	VPS8	3	184714255	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	1244249	184714255	13308175	23	3718											
DGKQ	1609	broad.mit.edu	37	chr4	956607	956607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctccgggcaggccagtCggtaccgtgtctcctccagg	6	7	14	14	3	1	0	0	0	1	0	5	0	3	0	5	5	1	3	5	5	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:956607C>T	uc003gbw.3	-	16	2062	c.1988G>A	c.(1987-1989)cGa>cAa	p.R663Q	DGKQ_uc010ibn.3_Missense_Mutation_p.R650Q	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	663	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCAGGCCAGTCGGTACCGTGT	0.687													T	956607	C	T	956607	3	4	59	1	0	0	0	0	1	0	0	0	4512	884	31	1	868	1	DGKQ	4	956607	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		956607	190197669	24	3719											
KLHL5	51088	broad.mit.edu	37	chr4	39116882	39116882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataagttatatgctgttgggGggtatgatggacaggcatac	11	12	14	4	0	0	1	0	1	0	0	0	2	0	2	0	5	2	5	0	5	5	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:39116882G>A	uc003gtr.2	+	9	2426	c.2143G>A	c.(2143-2145)Ggg>Agg	p.G715R	KLHL5_uc003gtp.3_Missense_Mutation_p.G669R|KLHL5_uc003gtq.3_Missense_Mutation_p.G528R|KLHL5_uc003gts.3_Missense_Mutation_p.G715R|KLHL5_uc003gtt.3_Missense_Mutation_p.G654R	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	715						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TGCTGTTGGGGGGTATGATGG	0.458													A	39116882	G	A	39116882	3	1	59	1	0	0	0	0	1	0	0	0	8450	1232	43	2	2181	2	KLHL5	4	39116882	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	38160275	39116882	152037394	25	3720											
IGJ	3512	broad.mit.edu	37	chr4	71527860	71527860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattaggatcttcggaagaaCggatgatcctggaagtaatc	13	10	11	7	2	1	2	0	1	1	1	4	6	2	6	1	4	1	1	1	4	5	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:71527860C>T	uc010ihz.3	-	2	326	c.185G>A	c.(184-186)cGt>cAt	p.R62H	IGJ_uc003hfn.4_Missense_Mutation_p.R46H	NM_144646	NP_653247	P01591	IGJ_HUMAN	Homo sapiens immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides (IGJ), mRNA.	46					immune response	extracellular region	antigen binding	p.R61Q(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TTCGGAAGAACGGATGATCCT	0.383													T	71527860	C	T	71527860	3	4	59	1	0	0	0	0	1	0	0	0	7650	536	19	1	354	1	IGJ	4	71527860	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	32410978	71527860	119626416	26	3721											
CXXC4	80319	broad.mit.edu	37	chr4	105412449	105412449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggagtcgtttcggtggtGcatgctggtcctgctgccgc	2	12	16	11	3	0	0	0	0	0	0	3	1	1	1	2	4	4	4	2	4	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr4:105412449G>A	uc003hxg.3	-	0	19	c.4C>T	c.(4-6)Cac>Tac	p.H2Y	AK094561_uc003hxh.1_Intron|CXXC4_uc010ilo.3_Intron	NM_025212	NP_079488	Q9H2H0	CXXC4_HUMAN	Homo sapiens CXXC finger protein 4 (CXXC4), mRNA.	2					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		TTTCGGTGGTGCATGCTGGTC	0.687													A	105412449	G	A	105412449	3	1	59	1	0	0	0	0	1	0	0	0	4131	1319	46	2	600	2	CXXC4	4	105412449	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	33884589	105412449	85741827	27	3722											
CDH18	1016	broad.mit.edu	37	chr5	19747216	19747216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcacatagtgggtcttctGctctctgtctaggctttttg	6	16	10	9	0	4	0	0	0	4	0	5	0	4	0	0	2	2	3	0	2	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:19747216G>T	uc003jgd.3	-	3	892	c.358C>A	c.(358-360)Cag>Aag	p.Q120K	CDH18_uc011cnm.2_Missense_Mutation_p.Q120K|CDH18_uc003jgc.3_Missense_Mutation_p.Q120K|CDH18_uc021xwu.1_Missense_Mutation_p.Q120K	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	120	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TGGGTCTTCTGCTCTCTGTCT	0.433													T	19747216	G	T	19747216	3	4	59	1	0	0	0	0	1	0	0	0	3133	1328	46	4	2054	4	CDH18	5	19747216	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		19747216	161168044	28	3723											
PRDM9	56979	broad.mit.edu	37	chr5	23523414	23523414	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagatcaccaaggggagAaactgctatgagtatgtgga	14	8	12	7	0	2	3	2	1	0	2	2	5	2	4	1	3	2	2	1	3	4	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:23523414A>G	uc003jgo.3	+	8	1079	c.897A>G	c.(895-897)agA>agG	p.R299R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	299	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCAAGGGGAGAAACTGCTATG	0.428										HNSCC(3;0.000094)			G	23523414	A	G	23523414	2	3	59	1	0	0	0	0	0	0	0	1	12549	243	9	3		3	PRDM9	5	23523414	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	3776198	23523414	157391846	29	3724											
ADAMTS12	81792	broad.mit.edu	37	chr5	33615934	33615934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcctttctgcattaccTggatccacacagactcattg	8	13	5	15	0	2	1	1	0	1	1	5	2	5	2	4	1	2	1	4	1	1	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:33615934T>C	uc003jia.1	-	15	2551	c.2388_splice	c.e15+1	p.Q796_splice	ADAMTS12_uc010iuq.1_Splice_Site_p.Q711_splice	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	796	Spacer 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCATTACCTGGATCCACAC	0.473										HNSCC(64;0.19)			C	33615934	T	C	33615934	3	2	59	1	0	0	0	0	1	0	0	0	257	1594	55	3	2437	3	ADAMTS12	5	33615934	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	10092520	33615934	147299326	30	3725											
MAP3K1	4214	broad.mit.edu	37	chr5	56168509	56168509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagagaacctttaatatgtCccctttgtagatctaagtgg	12	14	8	7	0	1	2	0	0	1	2	2	3	2	2	3	1	1	1	3	1	6	7			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:56168509C>T	uc003jqw.4	+	7	1966	c.1465C>T	c.(1465-1467)Ccc>Tcc	p.P489S		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	489					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		TTTAATATGTCCCCTTTGTAG	0.279													T	56168509	C	T	56168509	3	4	59	1	0	0	0	0	1	0	0	0	9318	855	30	2	1495	2	MAP3K1	5	56168509	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	22552575	56168509	124746751	31	3726											
NAIP	4671	broad.mit.edu	37	chr5	70308329	70308329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattcttcacccttatgtcGtacttggcaatgttaccaac	10	14	6	11	1	2	1	1	0	1	1	3	1	2	1	2	1	3	3	2	1	5	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:70308329G>A	uc003kar.1	-	3	1132	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Silent_p.Y138Y|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	138					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding	p.Y138Y(2)		central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		CCCTTATGTCGTACTTGGCAA	0.483													A	70308329	G	A	70308329	2	1	59	1	0	0	0	0	0	0	0	1	10223	1140	40	1		1	NAIP	5	70308329	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	14139820	70308329	110606931	32	3727											
FAM81B	153643	broad.mit.edu	37	chr5	94749771	94749771	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccgcatcaaggaggaCatctctgcttgcctgcaggg	7	9	12	13	1	2	0	1	0	1	0	4	2	3	2	3	3	3	3	3	3	1	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:94749771C>T	uc003kla.1	+	3	460	c.414C>T	c.(412-414)gaC>gaT	p.D138D	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	138										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		TCAAGGAGGACATCTCTGCTT	0.522													T	94749771	C	T	94749771	2	4	59	1	0	0	0	0	0	0	0	1	5679	477	17	2		2	FAM81B	5	94749771	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	24441442	94749771	86165489	33	3728											
PCDHAC2	56141	broad.mit.edu	37	chr5	140215715	140215715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgagagagcttgtgccgCggtctgtgggcgcgggccat	5	8	18	10	4	1	2	0	1	1	1	1	3	1	2	2	3	2	1	2	3	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:140215715C>T	uc003lhq.2	+	0	1747	c.1747C>T	c.(1747-1749)Cgg>Tgg	p.R583W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.R583W	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	596					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTTGTGCCGCGGTCTGTGGG	0.657													T	140215715	C	T	140215715	3	4	59	1	0	0	0	0	1	0	0	0	11609	759	27	1		1	PCDHAC2	5	140215715	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	45465944	140215715	40699545	34	3729											
NMUR2	56923	broad.mit.edu	37	chr5	151784353	151784353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagaaagggtagttgcGccacatctcatagacctcca	14	7	9	11	1	1	2	1	0	1	2	3	3	2	2	3	1	2	2	3	1	5	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:151784353G>A	uc003luv.2	-	0	488	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GGGTAGTTGCGCCACATCTCA	0.587													A	151784353	G	A	151784353	3	1	59	1	0	0	0	0	1	0	0	0	10583	1087	38	1	941	1	NMUR2	5	151784353	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	11568638	151784353	29130907	35	3730											
TIMD4	91937	broad.mit.edu	37	chr5	156349123	156349123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttacctctcaggagaaaCgccacaaacaatgcgaagag	15	6	8	12	2	1	2	1	0	1	2	3	4	2	2	3	1	4	0	3	1	5	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr5:156349123C>T	uc003lwh.2	-	6	1056	c.999G>A	c.(997-999)gcG>gcA	p.A333A	TIMD4_uc010jii.2_Silent_p.A305A|TIMD4_uc003lwg.2_Silent_p.A35A	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	333						integral to membrane		p.A333A(2)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCAGGAGAAACGCCACAAACA	0.517													T	156349123	C	T	156349123	2	4	59	1	0	0	0	0	0	0	0	1	16003	523	19	1		1	TIMD4	5	156349123	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	4564770	156349123	24566137	36	3731											
MYLIP	29116	broad.mit.edu	37	chr6	16143302	16143302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagccaggcttcagctgaAtaccaagttttgcagattgt	11	11	9	10	0	1	2	1	1	0	1	1	2	1	2	3	1	4	4	3	1	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:16143302A>C	uc003nbq.3	+	3	753	c.516A>C	c.(514-516)gaA>gaC	p.E172D	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	172	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			CTTCAGCTGAATACCAAGTTT	0.463													C	16143302	A	C	16143302	3	2	59	1	0	0	0	0	1	0	0	0	10131	98	4	5	530	5	MYLIP	6	16143302	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08		16143302	154971765	37	3732											
SLC22A7	10864	broad.mit.edu	37	chr6	43267438	43267438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcatctgcagcctccGtcagctatgtaatgtttgcc	6	12	10	13	1	2	0	1	0	1	0	3	0	3	0	4	1	4	5	4	1	2	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:43267438G>A	uc021yzt.1	+	3	676	c.577G>A	c.(577-579)Gtc>Atc	p.V193I	SLC22A7_uc010jyl.1_Missense_Mutation_p.V191I|SLC22A7_uc003ous.3_Missense_Mutation_p.V191I|SLC22A7_uc003out.3_Missense_Mutation_p.V191I	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	193						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TGCAGCCTCCGTCAGCTATGT	0.587													A	43267438	G	A	43267438	3	1	59	1	0	0	0	0	1	0	0	0	14553	1145	40	1	587	1	SLC22A7	6	43267438	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	27124136	43267438	127847629	38	3733											
AARS2	57505	broad.mit.edu	37	chr6	44270876	44270876	+	Frame_Shift_Del	DEL	C	C	-																															caatgcatgggccacgggcaCccccactgataccacccgca																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:44270876delC	uc010jza.1	-	15	2185	c.2182delG	c.(2182-2184)gtgfs	p.V728fs	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	728					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	GCCACGGGCACCCCCACTGAT	0.602													-	44270876	C	-	44270876	7	5	59	1	0	1	0	1	0	0	0	0	20	507	18	0	803	0	AARS2	6	44270876	Frame_Shift_Del	DEL	C	TCGA-06-0743-01A-01D-1492-08	1003438	44270876	126844191	39	3734											
MEP1A	4224	broad.mit.edu	37	chr6	46806843	46806843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttgaccttctccatcatCgccatcctttcccaaaggcc	7	13	4	17	1	3	1	1	1	2	0	7	1	5	1	6	1	0	0	6	1	1	4	rs139598232	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:46806843C>T	uc011dwh.1	+	12	2303	c.2295C>T	c.(2293-2295)atC>atT	p.I765I	MEP1A_uc010jzh.1_Silent_p.I737I|MEP1A_uc011dwg.1_Silent_p.I459I|MEP1A_uc011dwi.1_Silent_p.I637I	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	737					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCTCCATCATCGCCATCCTTT	0.602													T	46806843	C	T	46806843	2	4	59	1	0	0	0	0	0	0	0	1	9550	874	31	1		1	MEP1A	6	46806843	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	2535967	46806843	124308224	40	3735											
C6orf221	154288	broad.mit.edu	37	chr6	74073290	74073290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcttccaggctcaggaaagGccctcgcccaggatgtcgcc	7	8	11	15	2	2	0	1	0	1	0	5	2	3	2	4	4	0	1	4	4	1	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr6:74073290G>A	uc003pgt.4	+	2	414	c.361G>A	c.(361-363)Gcc>Acc	p.A121T		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	121										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CTCAGGAAAGGCCCTCGCCCA	0.617													A	74073290	G	A	74073290	3	1	59	1	0	0	0	0	1	0	0	0	2377	1203	42	2	371	2	C6orf221	6	74073290	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	27266447	74073290	97041777	41	3736											
MACC1	346389	broad.mit.edu	37	chr7	20198221	20198221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactttggactgaccaataGcttttaccttaccttccccg	8	14	5	14	1	1	1	1	1	0	0	2	2	2	2	5	1	3	1	5	1	4	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:20198221G>A	uc003sus.4	-	4	2072	c.1763C>T	c.(1762-1764)gCt>gTt	p.A588V	MACC1_uc010kug.3_Missense_Mutation_p.A588V	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	588	SH3.				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGACCAATAGCTTTTACCTT	0.418													A	20198221	G	A	20198221	3	1	59	1	0	0	0	0	1	0	0	0	9214	971	34	2	807	2	MACC1	7	20198221	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		20198221	138940442	42	3737											
EGFR	1956	broad.mit.edu	37	chr7	55214352	55214352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accctgccctgtgcaacgtgGagagcatccagtggcgggac	8	6	14	13	2	0	1	0	0	0	1	1	3	1	2	3	3	4	2	3	3	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55214352G>A	uc003tqk.3	+	3	724	c.478G>A	c.(478-480)Gag>Aag	p.E160K	EGFR_uc003tqh.3_Missense_Mutation_p.E160K|EGFR_uc003tqi.3_Missense_Mutation_p.E160K|EGFR_uc003tqj.3_Missense_Mutation_p.E160K|EGFR_uc022adm.1_Missense_Mutation_p.E160K|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.E107K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	160					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAACGTGGAGAGCATCCA	0.552		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55214352	G	A	55214352	3	1	59	1	0	0	0	0	1	0	0	0	5006	1175	41	2	492	2	EGFR	7	55214352	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	35016131	55214352	103924311	43	3738											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	59	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	7470	55221822	103916841	44	3739											
COL1A2	1278	broad.mit.edu	37	chr7	94056341	94056341	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatggtgatcaaggtGctcctggctccgtgggtcct	5	11	13	12	1	2	1	2	1	0	0	5	1	5	1	4	4	1	2	4	4	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:94056341G>C	uc003ung.1	+	46	3598	c.3127G>C	c.(3127-3129)Gct>Cct	p.A1043P	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	1043					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGATCAAGGTGCTCCTGGCTC	0.458										HNSCC(75;0.22)			C	94056341	G	C	94056341	3	2	59	1	0	0	0	0	1	0	0	0	3709	1319	46	4	3313	4	COL1A2	7	94056341	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	38834519	94056341	65082322	45	3740											
NPTX2	4885	broad.mit.edu	37	chr7	98254262	98254262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttaagtcaccagatgcGttcaaggtgtccctcccact	8	11	8	14	1	2	1	2	0	0	1	4	1	4	1	4	1	1	1	4	1	2	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98254262G>A	uc003upl.2	+	2	849	c.672G>A	c.(670-672)gcG>gcA	p.A224A		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	224					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CACCAGATGCGTTCAAGGTGT	0.602													A	98254262	G	A	98254262	2	1	59	1	0	0	0	0	0	0	0	1	10679	1132	40	1		1	NPTX2	7	98254262	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	4197921	98254262	60884401	46	3741											
TRRAP	8295	broad.mit.edu	37	chr7	98528341	98528341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggtatgcaaagctgggggGtgtggtgtctattaagtttc	7	14	16	4	0	1	0	0	0	1	0	2	0	1	0	0	5	2	4	0	5	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:98528341G>T	uc003upp.3	+	24	3688	c.3479G>T	c.(3478-3480)gGt>gTt	p.G1160V	TRRAP_uc011kis.2_Missense_Mutation_p.G1160V|TRRAP_uc003upr.3_Missense_Mutation_p.G852V	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1160					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AAGCTGGGGGGTGTGGTGTCT	0.517													T	98528341	G	T	98528341	3	4	59	1	0	0	0	0	1	0	0	0	16702	1261	44	4	3573	4	TRRAP	7	98528341	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	274079	98528341	60610322	47	3742											
IFRD1	3475	broad.mit.edu	37	chr7	112112859	112112859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgtatttgaacttggaccCccagtgatgcttgatgctgc	9	13	10	9	0	0	3	0	3	0	0	0	4	0	4	2	1	4	3	2	1	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:112112859C>T	uc003vgh.3	+	11	1679	c.1209C>T	c.(1207-1209)ccC>ccT	p.P403P	IFRD1_uc011kmn.2_Silent_p.P353P|IFRD1_uc003vgj.3_Silent_p.P403P|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Silent_p.P353P|IFRD1_uc003vgk.3_Silent_p.P120P	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	403				LGPPVMLDAAT -> TWTPSDALMLQR (in Ref. 1; CAA71366).	multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						AACTTGGACCCCCAGTGATGC	0.353													T	112112859	C	T	112112859	2	4	59	1	0	0	0	0	0	0	0	1	7611	610	22	2		2	IFRD1	7	112112859	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	13584518	112112859	47025804	48	3743											
GIMAP6	474344	broad.mit.edu	37	chr7	150324938	150324938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccctggcttacttgcctttCctgtagttctttcagccgaa	5	15	8	13	1	2	0	1	0	1	0	3	1	3	0	4	1	3	3	4	1	3	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150324938C>T	uc022apv.1	-	2	1438	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K	GIMAP6_uc003whn.3_Missense_Mutation_p.E250K|GIMAP6_uc003whm.3_3'UTR	NM_001244072	NP_001231001	Q6P9H5	GIMA6_HUMAN	Homo sapiens GTPase, IMAP family member 6 (GIMAP6), transcript variant 2, mRNA.	250							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACTTGCCTTTCCTGTAGTTCT	0.493													T	150324938	C	T	150324938	3	4	59	1	0	0	0	0	1	0	0	0	6439	864	30	2	134	2	GIMAP6	7	150324938	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	38212079	150324938	8813725	49	3744											
ABP1	26	broad.mit.edu	37	chr7	150558161	150558161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcttcccagaggacccctCcctggcatccagagacactg	8	8	8	17	0	1	2	0	0	1	2	4	4	4	3	5	2	0	1	5	2	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr7:150558161C>T	uc003why.1	+	5	6338	c.2120C>T	c.(2119-2121)tCc>tTc	p.S707F	ABP1_uc003whz.1_Missense_Mutation_p.S707F|ABP1_uc003wia.1_Missense_Mutation_p.S726F	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	707					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	GAGGACCCCTCCCTGGCATCC	0.622													T	150558161	C	T	150558161	3	4	59	1	0	0	0	0	1	0	0	0	98	855	30	2	2134	2	ABP1	7	150558161	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	233223	150558161	8580502	50	3745											
ZMAT4	79698	broad.mit.edu	37	chr8	40554861	40554861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccaccaccgctgaagtGaatgacatgttgcagagtgt	10	9	12	10	2	0	4	0	3	0	1	1	4	0	4	3	1	1	3	3	1	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:40554861G>T	uc003xnr.3	-	3	398	c.252C>A	c.(250-252)ttC>ttA	p.F84L	ZMAT4_uc003xns.3_Missense_Mutation_p.F84L	NM_024645	NP_078921	Q9H898	ZMAT4_HUMAN	Homo sapiens zinc finger, matrin-type 4 (ZMAT4), transcript variant 1, mRNA.	84						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CCGCTGAAGTGAATGACATGT	0.498													T	40554861	G	T	40554861	3	4	59	1	0	0	0	0	1	0	0	0	17795	1281	45	4	453	4	ZMAT4	8	40554861	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		40554861	105809161	51	3746											
MCM4	4173	broad.mit.edu	37	chr8	48874694	48874694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagggaaccccaagaagtgGtgttaggggcacacctgtga	12	6	15	8	0	0	3	0	1	0	2	0	4	0	4	3	4	1	2	3	4	4	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:48874694G>C	uc003xqk.2	+	3	1143	c.317G>C	c.(316-318)gGt>gCt	p.G106A	PRKDC_uc003xqi.3_5'Flank|PRKDC_uc003xqj.3_5'Flank|MCM4_uc003xql.2_Missense_Mutation_p.G106A|MCM4_uc011ldi.2_Missense_Mutation_p.G93A|MCM4_uc010lxw.2_Intron	NM_182746	NP_877423	P33991	MCM4_HUMAN	Homo sapiens minichromosome maintenance complex component 4 (MCM4), transcript variant 2, mRNA.	106					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CCAAGAAGTGGTGTTAGGGGC	0.527													C	48874694	G	C	48874694	3	2	59	1	0	0	0	0	1	0	0	0	9464	1261	44	4	327	4	MCM4	8	48874694	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	8319833	48874694	97489328	52	3747											
RPL7	6129	broad.mit.edu	37	chr8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-																															tctggcacagcaggaacctcCttcttcttctctctaacgtt																								rs151181576		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:74205020_74205022delCTT	uc003xzg.3	-	1	47_49	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RDH10_uc003xzi.3_5'Flank	NM_000971	NP_000962	P18124	RL7_HUMAN	Homo sapiens ribosomal protein L7 (RPL7), mRNA.	9	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414													-	74205022	CTT	-	74205020	7	5	59	1	0	1	0	1	0	0	0	0	13690	680	24	0	739	0	RPL7	8	74205020	In_Frame_Del	DEL	CTT	TCGA-06-0743-01A-01D-1492-08	25330326	74205020	72159002	53	3748											
VPS13B	157680	broad.mit.edu	37	chr8	100568723	100568723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagatcctggatcagaaatCgaagacagacaataccaaat	18	6	8	9	2	1	4	1	0	0	4	3	7	2	5	2	1	1	0	2	1	5	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:100568723C>T	uc003yiv.3	+	30	4977	c.4866C>T	c.(4864-4866)atC>atT	p.I1622I	VPS13B_uc003yiw.3_Silent_p.I1597I	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	1622					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GATCAGAAATCGAAGACAGAC	0.398													T	100568723	C	T	100568723	2	4	59	1	0	0	0	0	0	0	0	1	17292	874	31	1		1	VPS13B	8	100568723	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	26363703	100568723	45795299	54	3749											
CSMD3	114788	broad.mit.edu	37	chr8	113702122	113702122	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgggtatgtttgcagaCcattggttattctcttgaca	9	15	10	7	0	1	3	0	1	1	2	2	3	1	3	1	2	1	4	1	2	2	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr8:113702122C>T	uc003ynu.3	-	13	2289	c.2130G>A	c.(2128-2130)tgG>tgA	p.W710*	CSMD3_uc003yns.3_5'UTR|CSMD3_uc003ynt.3_Nonsense_Mutation_p.W670*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.W606*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	710	Sushi 3.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGTTTGCAGACCATTGGTTAT	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113702122	C	T	113702122	4	4	59	1	0	0	0	0	0	1	0	0	3979	508	18	2	9225	2	CSMD3	8	113702122	Nonsense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	13133399	113702122	32661900	55	3750											
DENND4C	55667	broad.mit.edu	37	chr9	19360386	19360386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcatcaatcaacatccaAtcattttctggaacctcgtt	11	15	3	12	1	5	0	4	0	1	0	7	1	6	1	2	1	2	1	2	1	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:19360386A>G	uc003znq.3	+	23	4530	c.4450A>G	c.(4450-4452)Atc>Gtc	p.I1484V	DENND4C_uc011lnc.2_Missense_Mutation_p.I814V|DENND4C_uc011lnd.2_Missense_Mutation_p.I772V|DENND4C_uc003znr.3_Missense_Mutation_p.I772V|DENND4C_uc003zns.3_Missense_Mutation_p.I666V	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	1484						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TCAACATCCAATCATTTTCTG	0.388													G	19360386	A	G	19360386	3	3	59	1	0	0	0	0	1	0	0	0	4474	101	4	3	4544	3	DENND4C	9	19360386	Missense_Mutation	SNP	A	TCGA-06-0743-01A-01D-1492-08		19360386	121853045	56	3751											
C9orf84	158401	broad.mit.edu	37	chr9	114462255	114462255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacatccagttcttcagaGtttagcccaaatgaaaccaa	14	12	5	10	0	2	2	1	1	1	1	3	2	3	2	3	0	3	2	3	0	5	6			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr9:114462255G>A	uc004bfr.3	-	21	3105	c.2970C>T	c.(2968-2970)aaC>aaT	p.N990N	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Silent_p.N951N|C9orf84_uc010mug.3_Silent_p.N901N	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	990										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GTTCTTCAGAGTTTAGCCCAA	0.313													A	114462255	G	A	114462255	2	1	59	1	0	0	0	0	0	0	0	1	2526	1020	36	2		2	C9orf84	9	114462255	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	95101869	114462255	26751176	57	3752											
LRIT1	26103	broad.mit.edu	37	chr10	85992166	85992166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgctgcccaaagaccgcGtagaggacactgaaggcagt	11	6	13	11	2	0	3	0	1	0	2	0	4	0	4	2	2	2	3	2	2	3	1	rs142074653	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:85992166G>A	uc001kcz.1	-	3	1411	c.1389C>T	c.(1387-1389)taC>taT	p.Y463Y		NM_015613	NP_056428	Q9P2V4	LRIT1_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 1 (LRIT1), mRNA.	463	Fibronectin type-III.					integral to endoplasmic reticulum membrane		p.Y463Y(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CAAAGACCGCGTAGAGGACAC	0.582													A	85992166	G	A	85992166	2	1	59	1	0	0	0	0	0	0	0	1	9017	1140	40	1		1	LRIT1	10	85992166	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		85992166	49542581	58	3753											
PTEN	5728	broad.mit.edu	37	chr10	89692785	89692785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagttgcacaatatccttTtgaagaccataacccaccac	14	9	4	14	0	0	2	0	1	0	1	1	2	1	2	4	0	2	2	4	0	4	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89692785T>C	uc001kfb.3	+	4	1301	c.269T>C	c.(268-270)tTt>tCt	p.F90S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	90	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.F90fs*9(4)|p.Y27fs*1(2)|p.F90S(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.F90L(1)|p.F90_P95>L(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAATATCCTTTTGAAGACCAT	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692785	T	C	89692785	3	2	59	1	0	0	0	0	1	0	0	0	12823	1841	64	3	287	3	PTEN	10	89692785	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	3700619	89692785	45841962	59	3754											
PTEN	5728	broad.mit.edu	37	chr10	89720847	89720847	+	Frame_Shift_Del	DEL	C	C	-																															caaagcaaataaagacaaagCcaaccgatacttttctccaa																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:89720847delC	uc001kfb.3	+	7	2030	c.998delC	c.(997-999)gccfs	p.A333fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	333	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGACAAAGCCAACCGATAC	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720847	C	-	89720847	7	5	59	1	0	1	0	1	0	0	0	0	12823	739	26	0	1028	0	PTEN	10	89720847	Frame_Shift_Del	DEL	C	TCGA-06-0743-01A-01D-1492-08	28062	89720847	45813900	60	3755											
SORCS1	114815	broad.mit.edu	37	chr10	108923743	108923743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcacgctgctgttgtggccaGaccagtggaccatggcttgg	6	10	14	11	1	1	1	1	0	0	1	1	2	1	2	3	4	1	4	3	4	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:108923743G>C	uc001kyl.3	-	0	724	c.542C>G	c.(541-543)tCt>tGt	p.S181C	SORCS1_uc021pxw.1_Missense_Mutation_p.S181C|SORCS1_uc009xxs.3_Missense_Mutation_p.S181C|SORCS1_uc001kym.3_Missense_Mutation_p.S181C|SORCS1_uc001kyn.2_Missense_Mutation_p.S181C|SORCS1_uc001kyo.3_Missense_Mutation_p.S181C	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	181						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GTTGTGGCCAGACCAGTGGAC	0.562													C	108923743	G	C	108923743	3	2	59	1	0	0	0	0	1	0	0	0	15024	942	33	4	3302	4	SORCS1	10	108923743	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	19202896	108923743	26611004	61	3756											
SMC3	9126	broad.mit.edu	37	chr10	112344031	112344031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagaagaaagggataagtgGattaaaaaggaactcaagtc	21	6	11	3	0	1	2	1	0	0	2	2	5	1	5	0	3	1	0	0	3	9	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:112344031G>T	uc001kze.3	+	12	1308	c.1182G>T	c.(1180-1182)tgG>tgT	p.W394C		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	394					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GGGATAAGTGGATTAAAAAGG	0.383													T	112344031	G	T	112344031	3	4	59	1	0	0	0	0	1	0	0	0	14878	1183	41	4	1232	4	SMC3	10	112344031	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	3420288	112344031	23190716	62	3757											
DMBT1	1755	broad.mit.edu	37	chr10	124399762	124399762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtatggcaattttgaCgtgaacatttccttttatac	10	16	7	8	1	0	2	0	2	0	0	2	2	2	2	2	1	2	2	2	1	5	7			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr10:124399762C>T	uc001lgk.1	+	51	6868	c.6762C>T	c.(6760-6762)gaC>gaT	p.D2254D	DMBT1_uc001lgl.1_Silent_p.D2244D|DMBT1_uc001lgm.1_Silent_p.D1626D|DMBT1_uc021qaf.1_Silent_p.D2254D|DMBT1_uc021qag.1_Silent_p.D2244D|DMBT1_uc021qah.1_Silent_p.D1626D|DMBT1_uc009xzz.1_Silent_p.D2253D|DMBT1_uc010qtx.1_Silent_p.D974D|DMBT1_uc009yab.1_Silent_p.D957D|DMBT1_uc009yac.1_Silent_p.D548D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2254	ZP.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCAATTTTGACGTGAACATTT	0.463													T	124399762	C	T	124399762	2	4	59	1	0	0	0	0	0	0	0	1	4616	535	19	1		1	DMBT1	10	124399762	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	12055731	124399762	11134985	63	3758											
MUC5B	727897	broad.mit.edu	37	chr11	1267425	1267425	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccggagaccacccacacCtccacagtgctgaccacgaa	12	4	7	18	2	0	2	0	1	0	1	2	4	2	2	6	1	1	1	6	1	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267425C>T	uc001lta.3	+	30	9374	c.9315C>T	c.(9313-9315)acC>acT	p.T3105T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3105	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.637													T	1267425	C	T	1267425	2	4	59	1	0	0	0	0	0	0	0	1	10055	668	24	2		2	MUC5B	11	1267425	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08		1267425	133739091	64	3759											
MUC5B	727897	broad.mit.edu	37	chr11	1267929	1267929	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctctactccagagacTgtccacacctccacagtgct	8	9	5	19	0	1	1	0	0	1	1	5	2	5	1	6	0	2	1	6	0	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1267929T>C	uc001lta.3	+	30	9878	c.9819T>C	c.(9817-9819)acT>acC	p.T3273T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	3273	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAGAGACTGTCCACACCT	0.642													C	1267929	T	C	1267929	2	2	59	1	0	0	0	0	0	0	0	1	10055	1567	55	3		3	MUC5B	11	1267929	Silent	SNP	T	TCGA-06-0743-01A-01D-1492-08	504	1267929	133738587	65	3760											
MUC5B	727897	broad.mit.edu	37	chr11	1271196	1271196	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccggagaccacccacacCtccacagtgctgaccacgaa	12	4	7	18	2	0	2	0	1	0	1	2	4	2	2	6	1	1	1	6	1	1	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:1271196C>T	uc001lta.3	+	30	13145	c.13086C>T	c.(13084-13086)acC>acT	p.T4362T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4362	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCCACACCTCCACAGTGC	0.652													T	1271196	C	T	1271196	2	4	59	1	0	0	0	0	0	0	0	1	10055	668	24	2		2	MUC5B	11	1271196	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	3267	1271196	133735320	66	3761											
PAMR1	25891	broad.mit.edu	37	chr11	35454286	35454286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccagccacagtgatgtggGactcctggaaggaagtgctg	10	7	15	9	0	0	1	0	1	0	0	1	4	1	4	3	3	3	1	3	3	2	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:35454286G>A	uc001mwf.3	-	11	1875	c.1832C>T	c.(1831-1833)tCc>tTc	p.S611F	PAMR1_uc001mwg.3_Missense_Mutation_p.S594F|PAMR1_uc010rew.2_Missense_Mutation_p.S483F|PAMR1_uc010rex.2_Missense_Mutation_p.S554F	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	594	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AGTGATGTGGGACTCCTGGAA	0.607													A	35454286	G	A	35454286	3	1	59	1	0	0	0	0	1	0	0	0	11489	1174	41	2	385	2	PAMR1	11	35454286	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	34183090	35454286	99552230	67	3762											
LRP4	4038	broad.mit.edu	37	chr11	46880763	46880763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggcccccccgtgagcttCgcagttgcttgaggtcatcc	5	9	13	14	2	1	2	1	2	0	0	3	3	2	3	4	3	2	4	4	3	0	3	rs146864522		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:46880763C>T	uc001ndn.4	-	37	5732	c.5489G>A	c.(5488-5490)cGa>cAa	p.R1830Q	LOC100507401_uc001ndl.3_Intron|LRP4_uc001ndm.4_Missense_Mutation_p.R72Q	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1830					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CCGTGAGCTTCGCAGTTGCTT	0.572													T	46880763	C	T	46880763	3	4	59	1	0	0	0	0	1	0	0	0	9029	884	31	1	232	1	LRP4	11	46880763	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	11426477	46880763	88125753	68	3763											
UNC93B1	81622	broad.mit.edu	37	chr11	67765211	67765211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgaggtttccgctccgCgggagcgtccgcagaaccgt	8	7	13	13	6	0	2	0	1	0	1	3	3	3	3	4	2	2	3	4	2	2	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:67765211C>T	uc001omw.1	-	6	920	c.840G>A	c.(838-840)ccG>ccA	p.P280P		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	280					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											TTCCGCTCCGCGGGAGCGTCC	0.647													T	67765211	C	T	67765211	2	4	59	1	0	0	0	0	0	0	0	1	17099	755	27	1		1	UNC93B1	11	67765211	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	20884448	67765211	67241305	69	3764											
CNTN5	53942	broad.mit.edu	37	chr11	100126601	100126601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcccaatctcctcctacaaCcttcaagctcgcagcccatt	10	9	4	18	1	2	0	1	0	1	0	5	0	3	0	5	0	5	2	5	0	4	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr11:100126601C>A	uc001pga.3	+	16	2619	c.2115C>A	c.(2113-2115)aaC>aaA	p.N705K	CNTN5_uc001pfz.3_Missense_Mutation_p.N705K|CNTN5_uc021qpb.1_Missense_Mutation_p.N705K|CNTN5_uc021qpc.1_Missense_Mutation_p.N631K|CNTN5_uc010ruk.2_5'UTR	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	705	Fibronectin type-III 1.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CCTCCTACAACCTTCAAGCTC	0.507													A	100126601	C	A	100126601	3	1	59	1	0	0	0	0	1	0	0	0	3675	506	18	4	2173	4	CNTN5	11	100126601	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	32361390	100126601	34879915	70	3765											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992139	1992139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttctcctgggtgtccGccagcgttgagatctgcgtg	4	12	13	12	4	3	1	1	1	2	1	5	2	4	1	3	1	2	2	3	1	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:1992139G>A	uc021qsx.1	-	12	1610	c.1379C>T	c.(1378-1380)gCg>gTg	p.A460V	CACNA2D4_uc009zds.2_Non-coding_Transcript|CACNA2D4_uc009zdt.1_Missense_Mutation_p.A348V	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 4 (CACNA2D4), mRNA.	460	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		CTGGGTGTCCGCCAGCGTTGA	0.632													A	1992139	G	A	1992139	3	1	59	1	0	0	0	0	1	0	0	0	2577	1087	38	1	2138	1	CACNA2D4	12	1992139	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		1992139	131859756	71	3766											
PTPRO	5800	broad.mit.edu	37	chr12	15654855	15654855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtacttcccatggaataCgaaaataacagtacactcag	16	8	7	10	2	1	0	1	0	0	0	2	2	2	1	1	1	5	2	1	1	7	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:15654855C>T	uc001rcv.2	+	4	1433	c.963C>T	c.(961-963)taC>taT	p.Y321Y	PTPRO_uc001rcw.2_Silent_p.Y321Y|PTPRO_uc001rcu.2_Silent_p.Y321Y	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	321						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCATGGAATACGAAAATAACA	0.448													T	15654855	C	T	15654855	2	4	59	1	0	0	0	0	0	0	0	1	12897	547	19	1		1	PTPRO	12	15654855	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	13662716	15654855	118197040	72	3767											
MLL2	8085	broad.mit.edu	37	chr12	49416373	49416373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctctgccagctcatacCtgctcttcgtagattttctc	5	14	6	16	1	4	1	1	0	3	1	6	1	4	1	4	0	4	3	4	0	2	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49416373C>G	uc001rta.4	-	51	16338	c.16338_splice	c.e51+1	p.Q5446_splice		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5446	SET.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CAGCTCATACCTGCTCTTCGT	0.542			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49416373	C	G	49416373	3	3	59	1	0	0	0	0	1	0	0	0	9696	695	24	4	291	4	MLL2	12	49416373	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	33761518	49416373	84435522	73	3768											
MLL2	8085	broad.mit.edu	37	chr12	49432216	49432216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccagaggattggggcGgccaagctcagtgctcgacg	8	5	17	11	3	1	1	1	0	0	1	2	3	1	2	2	5	2	2	2	5	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49432216G>A	uc001rta.4	-	33	8923	c.8923C>T	c.(8923-8925)Cgc>Tgc	p.R2975C		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2975	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GGATTGGGGCGGCCAAGCTCA	0.577			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	49432216	G	A	49432216	3	1	59	1	0	0	0	0	1	0	0	0	9696	1116	39	1	7774	1	MLL2	12	49432216	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	15843	49432216	84419679	74	3769											
KCNH3	23416	broad.mit.edu	37	chr12	49935518	49935518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcagcgaaaccaagaaccGagggggccccgacagatgga	14	2	13	12	3	1	2	1	0	0	2	1	6	1	3	4	3	3	0	4	3	3	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:49935518G>A	uc001ruh.1	+	2	676	c.416G>A	c.(415-417)cGa>cAa	p.R139Q	KCNH3_uc010smj.1_Missense_Mutation_p.R79Q	NM_012284	NP_036416	Q9ULD8	KCNH3_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 3 (KCNH3), mRNA.	139	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAAGAACCGAGGGGGCCCC	0.592													A	49935518	G	A	49935518	3	1	59	1	0	0	0	0	1	0	0	0	8091	1058	37	1	426	1	KCNH3	12	49935518	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	503302	49935518	83916377	75	3770											
CRADD	8738	broad.mit.edu	37	chr12	94243772	94243772	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgactgggatcccctcgCacatcctcaacagctcccca	9	8	7	17	1	1	1	1	1	0	0	5	3	4	2	5	1	2	2	5	1	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:94243772C>A	uc001tda.3	+	2	429	c.325C>A	c.(325-327)Cac>Aac	p.H109N	CRADD_uc010sur.1_Intron|CRADD_uc010sus.1_Intron	NM_003805	NP_003796	P78560	CRADD_HUMAN	Homo sapiens CASP2 and RIPK1 domain containing adaptor with death domain (CRADD), mRNA.	109					apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						GATCCCCTCGCACATCCTCAA	0.562													A	94243772	C	A	94243772	3	1	59	1	0	0	0	0	1	0	0	0	3876	710	25	4	331	4	CRADD	12	94243772	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	44308254	94243772	39608123	76	3771											
CUX2	23316	broad.mit.edu	37	chr12	111748245	111748245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcagaggaggagcagctGgacacggcagagatcgcctt	10	4	18	9	2	0	2	0	0	0	2	1	6	0	5	1	6	2	4	1	6	0	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:111748245G>A	uc001tsa.2	+	14	1813	c.1659G>A	c.(1657-1659)ctG>ctA	p.L553L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	553						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGGAGCAGCTGGACACGGCAG	0.701													A	111748245	G	A	111748245	2	1	59	1	0	0	0	0	0	0	0	1	4098	1335	47	2		2	CUX2	12	111748245	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	17504473	111748245	22103650	77	3772											
GPR133	283383	broad.mit.edu	37	chr12	131487822	131487822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcacgccccaggtcacCgtggagggctcctctgccat	6	6	13	16	2	2	0	1	0	1	0	3	1	3	1	5	4	2	3	5	4	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr12:131487822C>T	uc010tbm.2	+	10	1774	c.1215C>T	c.(1213-1215)acC>acT	p.T405T	GPR133_uc001uit.4_Silent_p.T373T	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	373					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.G404W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCCAGGTCACCGTGGAGGGCT	0.612													T	131487822	C	T	131487822	2	4	59	1	0	0	0	0	0	0	0	1	6697	639	23	1		1	GPR133	12	131487822	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	19739577	131487822	2364073	78	3773											
TPTE2	93492	broad.mit.edu	37	chr13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataataagtcgtagaagtcGaactaaatgtgtccatctaa	17	11	7	6	2	1	1	0	0	1	1	4	2	2	1	1	0	1	1	1	0	9	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													A	20039688	G	A	20039688	4	1	59	1	0	0	0	0	0	1	0	0	16532	1066	37	1	1091	1	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		20039688	95130190	79	3774											
SPERT	220082	broad.mit.edu	37	chr13	46287387	46287387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgctgcgcgcagcaggccgCcctgccccggctgagccgca	4	4	14	19	6	0	1	0	1	0	0	1	1	0	1	5	2	4	5	5	2	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr13:46287387C>T	uc001van.1	+	2	307	c.227C>T	c.(226-228)gCc>gTc	p.A76V	SPERT_uc001vao.2_Missense_Mutation_p.A40V	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	76						cytoplasmic membrane-bounded vesicle		p.A76T(1)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CAGCAGGCCGCCCTGCCCCGG	0.662													T	46287387	C	T	46287387	3	4	59	1	0	0	0	0	1	0	0	0	15135	739	26	2	237	2	SPERT	13	46287387	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	26247699	46287387	68882491	80	3775											
STRN3	29966	broad.mit.edu	37	chr14	31425409	31425409	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtccttcttcaggttctCttgaccttttctttcgcctt	4	20	5	12	1	4	1	1	1	3	0	7	1	5	1	3	1	0	1	3	1	1	9			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:31425409C>A	uc001wqu.2	-	1	538	c.322G>T	c.(322-324)Gag>Tag	p.E108*	STRN3_uc001wqv.2_Nonsense_Mutation_p.E108*|STRN3_uc010tpj.1_Non-coding_Transcript	NM_001083893	NP_001077362	Q13033	STRN3_HUMAN	Homo sapiens striatin, calmodulin binding protein 3 (STRN3), transcript variant 1, mRNA.	108					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.Q107E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTCAGGTTCTCTTGACCTTTT	0.328													A	31425409	C	A	31425409	4	1	59	1	0	0	0	0	0	1	0	0	15426	922	32	4	2139	4	STRN3	14	31425409	Nonsense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		31425409	75924131	81	3776											
MAX	4149	broad.mit.edu	37	chr14	65543330	65543330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggctgttgtctgaggagGggtagttggtctgcagttgg	6	12	19	4	0	2	2	0	1	2	1	2	3	2	3	0	6	1	6	0	6	1	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr14:65543330G>A	uc001xif.1	-	4	517	c.347C>T	c.(346-348)cCc>cTc	p.P116L	MAX_uc001xic.1_Intron|MAX_uc001xie.1_3'UTR|MAX_uc001xig.1_Missense_Mutation_p.P107L|MAX_uc001xih.1_Non-coding_Transcript	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	116					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCTGAGGAGGGGTAGTTGGT	0.587													A	65543330	G	A	65543330	3	1	59	1	0	0	0	0	1	0	0	0	9414	1232	43	2	224	2	MAX	14	65543330	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	34117921	65543330	41806210	82	3777											
PIF1	80119	broad.mit.edu	37	chr15	65114493	65114493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatggagggtggtgcccccGatgtggcaggctgccacccc	5	6	16	14	1	0	0	0	0	0	0	0	2	0	1	5	5	2	3	5	5	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr15:65114493G>A	uc002ant.2	-	3	855	c.789C>T	c.(787-789)atC>atT	p.I263I	PIF1_uc002anr.2_5'Flank|PIF1_uc002ans.2_5'Flank|PIF1_uc010uiq.1_Silent_p.I263I|PIF1_uc002anu.3_3'UTR	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	263	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TGGTGCCCCCGATGTGGCAGG	0.612													A	65114493	G	A	65114493	2	1	59	1	0	0	0	0	0	0	0	1	11960	1048	37	1		1	PIF1	15	65114493	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		65114493	37416899	83	3778											
PPL	5493	broad.mit.edu	37	chr16	4937215	4937215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaacttcagtgaacttggcgGcaagtgctgcttcctgcaga	10	10	11	10	1	1	2	1	1	0	1	2	2	2	2	1	2	5	4	1	2	3	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:4937215G>A	uc002cyd.1	-	20	2618	c.2528C>T	c.(2527-2529)gCc>gTc	p.A843V		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	843					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton	p.A843V(2)		breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GAACTTGGCGGCAAGTGCTGC	0.483													A	4937215	G	A	4937215	3	1	59	1	0	0	0	0	1	0	0	0	12416	1203	42	2	2750	2	PPL	16	4937215	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		4937215	85417538	84	3779											
GLG1	2734	broad.mit.edu	37	chr16	74542799	74542799	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatttgggatctgtagttaGgttcagcttataattccaca	12	15	8	6	0	2	0	1	0	1	0	3	1	3	1	1	2	1	4	1	2	5	7	rs142819854		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:74542799G>C	uc002fcx.3	-	2	546	c.496C>G	c.(496-498)Cta>Gta	p.L166V	GLG1_uc002fcw.4_Missense_Mutation_p.L155V|GLG1_uc002fcy.4_Missense_Mutation_p.L166V|GLG1_uc002fcz.4_5'UTR	NM_012201	NP_036333	Q92896	GSLG1_HUMAN	Homo sapiens golgi glycoprotein 1 (GLG1), transcript variant 1, mRNA.	166						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TCTGTAGTTAGGTTCAGCTTA	0.328													C	74542799	G	C	74542799	3	2	59	1	0	0	0	0	1	0	0	0	6492	991	35	4	3219	4	GLG1	16	74542799	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	69605584	74542799	15811954	85	3780											
CBFA2T3	863	broad.mit.edu	37	chr16	88945844	88945844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccgacatggcctgcCgcttcacctcattcacggcc	6	8	9	18	3	3	0	3	0	0	0	4	1	4	0	5	2	2	3	5	2	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr16:88945844C>T	uc002fmm.2	-	10	1785	c.1496G>A	c.(1495-1497)cGg>cAg	p.R499Q	CBFA2T3_uc002fml.2_Missense_Mutation_p.R413Q|CBFA2T3_uc002fmk.2_5'UTR	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	499	Mediates interaction with PRKAR2A.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CATGGCCTGCCGCTTCACCTC	0.647			T	RUNX1	AML								T	88945844	C	T	88945844	3	4	59	1	0	0	0	0	1	0	0	0	2724	652	23	1	473	1	CBFA2T3	16	88945844	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	14403045	88945844	1408909	86	3781											
P2RX5	5026	broad.mit.edu	37	chr17	3582918	3582918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtgggcacacagatcCgttccccttctgactgctgc	6	10	11	14	1	1	2	0	1	1	1	3	3	3	2	3	1	3	4	3	1	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:3582918C>T	uc002fwi.3	-	10	1624	c.1225G>A	c.(1225-1227)Gga>Aga	p.G409R	P2RX5_uc002fwd.3_Non-coding_Transcript|P2RX5_uc010vrx.2_Missense_Mutation_p.G349R|P2RX5_uc002fwk.3_Missense_Mutation_p.G408R|P2RX5_uc002fwj.3_Missense_Mutation_p.G384R|P2RX5_uc002fwl.3_Missense_Mutation_p.G385R	NM_002561	NP_002552	Q93086	P2RX5_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 5 (P2RX5), transcript variant 1, mRNA.	409					nervous system development|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						CACACAGATCCGTTCCCCTTC	0.672													T	3582918	C	T	3582918	3	4	59	1	0	0	0	0	1	0	0	0	11419	661	23	1	51	1	P2RX5	17	3582918	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		3582918	77612292	87	3782											
RABEP1	9135	broad.mit.edu	37	chr17	5238607	5238607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggctgtctgaaggtcaaGaggaggaaaatttagaaaat	17	8	13	3	0	2	3	1	1	1	2	2	6	2	5	0	4	0	1	0	4	8	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:5238607G>A	uc002gbm.4	+	3	720	c.496G>A	c.(496-498)Gag>Aag	p.E166K	RABEP1_uc010clc.1_Missense_Mutation_p.E166K|RABEP1_uc010cld.1_Missense_Mutation_p.E123K|RABEP1_uc010vsw.1_Missense_Mutation_p.E123K|RABEP1_uc002gbl.4_Missense_Mutation_p.E166K|RABEP1_uc002gbj.3_Missense_Mutation_p.E166K|RABEP1_uc002gbk.2_Missense_Mutation_p.E166K	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	166					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						TGAAGGTCAAGAGGAGGAAAA	0.383													A	5238607	G	A	5238607	3	1	59	1	0	0	0	0	1	0	0	0	13049	943	33	2	510	2	RABEP1	17	5238607	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	1655689	5238607	75956603	88	3783											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	59	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	2339787	7578394	73616816	89	3784											
PEX12	5193	broad.mit.edu	37	chr17	33904306	33904306	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaagaagggggatgaataGaatattcatcctcttctctc	12	11	11	7	0	3	3	1	1	2	2	6	5	4	5	1	3	0	0	1	3	6	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:33904306G>C	uc002hjp.3	-	1	1047	c.431C>G	c.(430-432)tCt>tGt	p.S144C		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	144					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.S144C(2)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGATGAATAGAATATTCATC	0.453													C	33904306	G	C	33904306	3	2	59	1	0	0	0	0	1	0	0	0	11817	942	33	4	656	4	PEX12	17	33904306	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	26325912	33904306	47290904	90	3785											
KRT38	8687	broad.mit.edu	37	chr17	39593757	39593757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcacagggggcagtcacGcaggagggagacgtggagca	11	2	20	8	2	1	1	1	0	0	1	1	5	1	4	0	6	2	4	0	6	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:39593757G>A	uc002hwq.1	-	6	1701	c.1278C>T	c.(1276-1278)tgC>tgT	p.C426C		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	426	Tail.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCAGTCACGCAGGAGGGAG	0.617													A	39593757	G	A	39593757	2	1	59	1	0	0	0	0	0	0	0	1	8533	1079	38	1		1	KRT38	17	39593757	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	5689451	39593757	41601453	91	3786											
ARL17A	51326	broad.mit.edu	37	chr17	44594545	44594545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagatgcctcatcatttgtgCcggtgaccccgcataatttc	8	12	9	12	2	2	2	2	1	0	1	3	3	2	2	4	1	2	1	4	1	1	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr17:44594545C>T	uc002iko.4	-	3	453	c.314G>A	c.(313-315)gGc>gAc	p.G105D	LRRC37A2_uc002ikn.1_Intron	NM_016632	NP_057716	Q8IVW1	ARL17_HUMAN	Homo sapiens ADP-ribosylation factor-like 17A (ARL17A), transcript variant 2, mRNA.	0					protein transport|vesicle-mediated transport	Golgi apparatus	GTP binding			lung(1)	1						ATCATTTGTGCCGGTGACCCC	0.403													T	44594545	C	T	44594545	3	4	59	1	0	0	0	0	1	0	0	0	936	739	26	2	736	2	ARL17A	17	44594545	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	5000788	44594545	36600665	92	3787											
CCBE1	147372	broad.mit.edu	37	chr18	57106776	57106776	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccactcataaggcttaccTtagaaccatctcttcctggt	10	12	6	13	0	2	1	1	0	1	1	4	2	3	1	4	2	2	1	4	2	4	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:57106776T>G	uc002lib.3	-	9	1021	c.951_splice	c.e9+1	p.K317_splice	CCBE1_uc010dpq.3_Splice_Site_p.K46_splice|CCBE1_uc002lia.3_Splice_Site_p.K170_splice	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	317	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AAGGCTTACCTTAGAACCATC	0.423													G	57106776	T	G	57106776	3	3	59	1	0	0	0	0	1	0	0	0	2757	1623	56	5	282	5	CCBE1	18	57106776	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08		57106776	20970472	93	3788											
ADNP2	22850	broad.mit.edu	37	chr18	77896514	77896514	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatcctagtaaaaaggaaaTagaactgttgtcctcactct	15	12	6	8	0	2	1	1	0	1	1	4	2	4	2	2	1	1	2	2	1	8	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896514T>C	uc002lnw.3	+	3	3673	c.3218T>C	c.(3217-3219)aTa>aCa	p.I1073T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1073					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		AAAAAGGAAATAGAACTGTTG	0.313													C	77896514	T	C	77896514	3	2	59	1	0	0	0	0	1	0	0	0	324	1406	49	3	3228	3	ADNP2	18	77896514	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	20789738	77896514	180734	94	3789			1	9		2	2	21	T		7.623257e-05
ADNP2	22850	broad.mit.edu	37	chr18	77896534	77896534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaactgttgtcctcactcTtttgggtgtggaaaattgat	9	16	10	6	0	2	2	1	1	1	1	3	3	3	3	1	2	1	1	1	2	4	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr18:77896534T>C	uc002lnw.3	+	3	3693	c.3238T>C	c.(3238-3240)Ttt>Ctt	p.F1080L		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	1080					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTCCTCACTCTTTTGGGTGTG	0.328													C	77896534	T	C	77896534	3	2	59	1	0	0	0	0	1	0	0	0	324	1609	56	3	3248	3	ADNP2	18	77896534	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	20	77896534	180714	95	3790			1	9		2	2	21	T		7.623257e-05
GCDH	2639	broad.mit.edu	37	chr19	13008135	13008135	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcagtttggtgtcccActggccaggaaccagctgat	9	9	13	10	0	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:13008135A>T	uc002mvq.3	+	9	1052	c.975A>T	c.(973-975)ccA>ccT	p.P325P	GCDH_uc010xms.2_Silent_p.P292P|GCDH_uc002mvp.3_Silent_p.P325P|GCDH_uc010xmt.2_Silent_p.P159P|GCDH_uc010xmu.2_Silent_p.P281P	NM_000159	NP_000150	Q92947	GCDH_HUMAN	Homo sapiens glutaryl-CoA dehydrogenase (GCDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	325					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						TTGGTGTCCCACTGGCCAGGA	0.627													T	13008135	A	T	13008135	2	4	59	1	0	0	0	0	0	0	0	1	6341	146	6	5		5	GCDH	19	13008135	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08		13008135	46120848	96	3791											
OR10H1	26539	broad.mit.edu	37	chr19	15917903	15917903	+	Frame_Shift_Del	DEL	A	A	-																															aatttctcctacatcattacAtttttttctgggtagagttt																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:15917903delA	uc002nbq.2	-	0	1034	c.945delT	c.(943-945)aatfs	p.N315fs		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						ACATCATTACATTTTTTTCTG	0.438													-	15917903	A	-	15917903	7	5	59	1	0	1	0	1	0	0	0	0	10981	214	8	0	15	0	OR10H1	19	15917903	Frame_Shift_Del	DEL	A	TCGA-06-0743-01A-01D-1492-08	2909768	15917903	43211080	97	3792											
PDE4C	5143	broad.mit.edu	37	chr19	18327614	18327614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggttctggaagatatcGcagttctctgcctgcagcag	8	11	12	10	1	2	2	0	1	2	1	4	3	2	3	1	2	3	5	1	2	2	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:18327614G>A	uc010xqc.2	-	11	1902	c.1422C>T	c.(1420-1422)tgC>tgT	p.C474C	PDE4C_uc002nik.4_Silent_p.C474C|PDE4C_uc002nil.4_Silent_p.C474C|PDE4C_uc002nig.4_Silent_p.C189C|PDE4C_uc002nih.4_Silent_p.C244C|PDE4C_uc010ebk.3_Silent_p.C368C|PDE4C_uc002nii.4_Silent_p.C442C|PDE4C_uc002nif.4_Silent_p.C243C|PDE4C_uc010ebl.3_Silent_p.C188C	NM_001098819	NP_001092289	Q08493	PDE4C_HUMAN	Homo sapiens phosphodiesterase 4C, cAMP-specific (PDE4C), transcript variant 2, mRNA.	474					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGAAGATATCGCAGTTCTCTG	0.602													A	18327614	G	A	18327614	2	1	59	1	0	0	0	0	0	0	0	1	11717	1079	38	1		1	PDE4C	19	18327614	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	2409711	18327614	40801369	98	3793											
CILP2	148113	broad.mit.edu	37	chr19	19653191	19653191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catatccccccagggtgcagCcttgacacctgtgaatgccc	8	8	9	16	0	0	2	0	2	0	0	1	2	1	2	6	1	3	1	6	1	2	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:19653191C>T	uc002nmw.4	+	4	703	c.618C>T	c.(616-618)agC>agT	p.S206S	CILP2_uc002nmv.4_Silent_p.S200S	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	200						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CAGGGTGCAGCCTTGACACCT	0.582													T	19653191	C	T	19653191	2	4	59	1	0	0	0	0	0	0	0	1	3460	738	26	2		2	CILP2	19	19653191	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	1325577	19653191	39475792	99	3794											
ZNF208	7757	broad.mit.edu	37	chr19	22154854	22154854	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctctccagtatgAattaccttatgtttagtaag	10	17	8	6	0	1	1	0	1	1	0	3	1	2	1	2	1	1	4	2	1	7	8			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:22154854A>T	uc021urr.1	-	3	3131	c.2982T>A	c.(2980-2982)atT>atA	p.I994I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.348													T	22154854	A	T	22154854	2	4	59	1	0	0	0	0	0	0	0	1	17867	242	9	5		5	ZNF208	19	22154854	Silent	SNP	A	TCGA-06-0743-01A-01D-1492-08	2501663	22154854	36974129	100	3795											
MLL2	9757	broad.mit.edu	37	chr19	36222840	36222840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggaccccccactggaCacagatgttcttgtccctgg	7	9	12	13	0	1	2	0	1	1	1	2	4	2	4	4	4	0	1	4	4	0	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:36222840C>T	uc021usv.1	+	26	5469	c.5469C>T	c.(5467-5469)gaC>gaT	p.D1823D	MLL2_uc021usu.1_Silent_p.D637D	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	440					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCCCACTGGACACAGATGTTC	0.627			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	36222840	C	T	36222840	2	4	59	1	0	0	0	0	0	0	0	1	9696	477	17	2		2	MLL2	19	36222840	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	14067986	36222840	22906143	101	3796											
MEGF8	1954	broad.mit.edu	37	chr19	42873137	42873137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagtgcagctgcaagacCggctataccatggacaagtg	12	8	12	9	1	0	2	0	1	0	1	0	3	0	3	2	2	4	4	2	2	5	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:42873137C>T	uc002otl.4	+	35	7058	c.6423C>T	c.(6421-6423)acC>acT	p.T2141T	MEGF8_uc002otm.4_Silent_p.T1749T|MEGF8_uc002otn.4_5'Flank	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2208	PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCTGCAAGACCGGCTATACCA	0.637													T	42873137	C	T	42873137	2	4	59	1	0	0	0	0	0	0	0	1	9538	639	23	1		1	MEGF8	19	42873137	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	6650297	42873137	16255846	102	3797											
ZNF813	126017	broad.mit.edu	37	chr19	53994332	53994332	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtggcaagactttcagtcaGacgtattcccttacatgcca	10	12	8	11	1	2	2	2	0	0	2	3	2	3	2	2	1	2	2	2	1	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr19:53994332G>A	uc021uzf.1	+	0	122	c.26G>A	c.(25-27)aGa>aAa	p.R9K	ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Silent_p.Q282Q	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.	0	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		CTTTCAGTCAGACGTATTCCC	0.418													A	53994332	G	A	53994332	2	1	59	1	0	0	0	0	0	0	0	1	18274	933	33	2		2	ZNF813	19	53994332	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08	11121195	53994332	5134651	103	3798											
SRXN1	140809	broad.mit.edu	37	chr20	629466	629466	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttgctggtaggccgcGtagcggtggcagcccccaaa	7	7	15	12	3	0	0	0	0	0	0	0	0	0	0	3	4	4	6	3	4	3	3	rs140166119		TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:629466G>A	uc002wea.3	-	1	367	c.306C>T	c.(304-306)taC>taT	p.Y102Y	SRXN1_uc002web.3_Non-coding_Transcript	NM_080725	NP_542763	Q9BYN0	SRXN1_HUMAN	Homo sapiens sulfiredoxin 1 (SRXN1), mRNA.	102					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						GGTAGGCCGCGTAGCGGTGGC	0.617													A	629466	G	A	629466	2	1	59	1	0	0	0	0	0	0	0	1	15269	1140	40	1		1	SRXN1	20	629466	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		629466	62396054	104	3799											
PROKR2	128674	broad.mit.edu	37	chr20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccccgctgggagggaCgccagtgcagcagcatcatc	7	6	13	15	2	1	0	1	0	0	0	3	2	2	2	3	2	4	5	3	2	0	0			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:5282783C>T	uc010zqw.2	-	1	1066	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_uc010zqx.2_Missense_Mutation_p.R353H|PROKR2_uc010zqy.2_Missense_Mutation_p.R353H	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	353						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R353H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			T	5282783	C	T	5282783	3	4	59	1	0	0	0	0	1	0	0	0	12639	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	4653317	5282783	57742737	105	3800											
SEL1L2	80343	broad.mit.edu	37	chr20	13899669	13899669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggataaagacttactcTtctttttgtttttggctttt	7	21	6	7	0	2	1	0	0	2	1	2	2	2	2	0	2	1	2	0	2	3	9			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:13899669T>A	uc010gcf.3	-	3	466	c.384A>T	c.(382-384)gaA>gaT	p.E128D	SEL1L2_uc002woq.4_5'UTR|SEL1L2_uc010zrl.2_Missense_Mutation_p.E128D|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	128						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						AGACTTACTCTTCTTTTTGTT	0.343													A	13899669	T	A	13899669	3	1	59	1	0	0	0	0	1	0	0	0	14104	1606	56	5	1750	5	SEL1L2	20	13899669	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	8616886	13899669	49125851	106	3801											
SPAG4	6676	broad.mit.edu	37	chr20	34206899	34206899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggattttgtgcggaagcccGactatgctttgagctctgtg	7	13	13	8	2	1	1	0	1	1	0	1	4	1	3	1	2	4	2	1	2	2	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:34206899G>A	uc002xdb.1	+	7	889	c.772G>A	c.(772-774)Gac>Aac	p.D258N	SPAG4_uc010zvi.1_Missense_Mutation_p.D181N	NM_003116	NP_003107	Q9NPE6	SPAG4_HUMAN	Homo sapiens sperm associated antigen 4 (SPAG4), mRNA.	258					spermatogenesis	cilium|flagellar axoneme|integral to membrane	structural molecule activity			NS(1)|cervix(5)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)	21	Lung NSC(9;0.0053)|all_lung(11;0.00785)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			GCGGAAGCCCGACTATGCTTT	0.592													A	34206899	G	A	34206899	3	1	59	1	0	0	0	0	1	0	0	0	15076	1058	37	1	802	1	SPAG4	20	34206899	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	20307230	34206899	28818621	107	3802											
PLCG1	5335	broad.mit.edu	37	chr20	39795447	39795447	+	Missense_Mutation	SNP	T	T	G																															acacccgctataccgcaagaTgaagctgcgctatcccatca																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795447T>G	uc002xjp.1	+	18	2370	c.2249T>G	c.(2248-2250)aTg>aGg	p.M750R	PLCG1_uc002xjo.1_Missense_Mutation_p.M750R|PLCG1_uc010zwe.1_Missense_Mutation_p.M376R|PLCG1_uc010ggf.3_Missense_Mutation_p.M100R	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	750	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TACCGCAAGATGAAGCTGCGC	0.572													G	39795447	T	G	39795447	3	3	59	1	0	0	0	0	1	0	0	0	12112	1464	51	5	2323	5	PLCG1	20	39795447	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	5588548	39795447	23230073	108	3803	4	2									
PLCG1	5335	broad.mit.edu	37	chr20	39795453	39795453	+	Missense_Mutation	SNP	T	T	A																															gctataccgcaagatgaagcTgcgctatcccatcaacgagg																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr20:39795453T>A	uc002xjp.1	+	18	2376	c.2255T>A	c.(2254-2256)cTg>cAg	p.L752Q	PLCG1_uc002xjo.1_Missense_Mutation_p.L752Q|PLCG1_uc010zwe.1_Missense_Mutation_p.L378Q|PLCG1_uc010ggf.3_Missense_Mutation_p.L102Q	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	752	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGATGAAGCTGCGCTATCCC	0.567													A	39795453	T	A	39795453	3	1	59	1	0	0	0	0	1	0	0	0	12112	1580	55	5	2329	5	PLCG1	20	39795453	Missense_Mutation	SNP	T	TCGA-06-0743-01A-01D-1492-08	6	39795453	23230067	109	3804	4	2									
ERG	2078	broad.mit.edu	37	chr21	39795357	39795357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacgataactctgcgctcGttcgtggtcatgtttggggg	5	12	15	9	4	2	0	1	0	1	0	4	1	2	0	0	4	2	4	0	4	1	3			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:39795357G>A	uc010gnw.3	-	4	679	c.384C>T	c.(382-384)aaC>aaT	p.N128N	ERG_uc021wjd.1_Silent_p.N128N|ERG_uc002yxa.3_Silent_p.N121N|ERG_uc011aek.2_Silent_p.N29N|ERG_uc010gnv.3_Silent_p.N29N|ERG_uc010gnx.3_Silent_p.N128N|ERG_uc011ael.2_Silent_p.N128N|ERG_uc002yxb.3_Silent_p.N128N|ERG_uc011aem.1_Silent_p.N121N|ERG_uc002yxc.4_Silent_p.N128N	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	128	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTCTGCGCTCGTTCGTGGTCA	0.602			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39795357	G	A	39795357	2	1	59	1	0	0	0	0	0	0	0	1	5263	1136	40	1		1	ERG	21	39795357	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		39795357	8334538	110	3805											
UBASH3A	53347	broad.mit.edu	37	chr21	43867265	43867265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctgacccacggggcgaaCgcagcatttaactggaggaa	12	5	12	12	3	0	1	0	1	0	0	0	4	0	3	2	4	3	2	2	4	3	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr21:43867265C>T	uc002zbe.3	+	14	2031	c.1947C>T	c.(1945-1947)aaC>aaT	p.N649N	UBASH3A_uc002zbf.3_Silent_p.N611N|UBASH3A_uc010gpe.3_3'UTR|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	649	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGGGGCGAACGCAGCATTTA	0.527													T	43867265	C	T	43867265	2	4	59	1	0	0	0	0	0	0	0	1	16941	535	19	1		1	UBASH3A	21	43867265	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	4071908	43867265	4262630	111	3806											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951882	30951882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcgaagtcattgcggccGttagggaaggcgaacttgag	10	9	15	7	4	1	1	1	1	0	0	2	4	1	2	1	3	2	1	1	3	5	4	rs112070427	byFrequency	TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chr22:30951882G>A	uc003aig.1	-	3	470	c.330C>T	c.(328-330)aaC>aaT	p.N110N	GAL3ST1_uc003aih.1_Silent_p.N110N|GAL3ST1_uc003aii.1_Silent_p.N110N|GAL3ST1_uc010gvz.1_Silent_p.N110N	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	110					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CATTGCGGCCGTTAGGGAAGG	0.597													A	30951882	G	A	30951882	2	1	59	1	0	0	0	0	0	0	0	1	6251	1136	40	1		1	GAL3ST1	22	30951882	Silent	SNP	G	TCGA-06-0743-01A-01D-1492-08		30951882	20352684	112	3807											
P2RY8	286530	broad.mit.edu	37	chrX	1584686	1584686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgtgcgccaggagcaCgaagttgttgggggcgaagc	9	6	17	9	4	0	0	0	0	0	0	0	4	0	1	1	3	3	3	1	3	2	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:1584686C>T	uc022brv.1	-	0	766	c.766G>A	c.(766-768)Gtg>Atg	p.V256M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.V256M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	256						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCCAGGAGCACGAAGTTGTTG	0.647			T	CRLF2	"B-ALL, Downs associated ALL"								T	1584686	C	T	1584686	3	4	59	1	0	0	0	0	1	0	0	0	11431	536	19	1	317	1	P2RY8	23	1584686	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08		1584686	153685874	113	3808											
FOXR2	139628	broad.mit.edu	37	chrX	55650462	55650462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaggatctgacaaaCatttctcctttccctcagcc	12	10	7	12	0	3	2	1	1	2	1	5	4	4	4	3	2	2	0	3	2	3	2			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:55650462C>T	uc004duo.3	+	0	630	c.318C>T	c.(316-318)aaC>aaT	p.N106N		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	106					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATCTGACAAACATTTCTCCTT	0.542													T	55650462	C	T	55650462	2	4	59	1	0	0	0	0	0	0	0	1	6083	477	17	2		2	FOXR2	23	55650462	Silent	SNP	C	TCGA-06-0743-01A-01D-1492-08	54065776	55650462	99620098	114	3809											
MUM1L1	139221	broad.mit.edu	37	chrX	105450617	105450617	+	Frame_Shift_Del	DEL	T	T	-																															aaacaggaatgatagtctggTttaaatatcagaaatatcca																										TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:105450617delT	uc022cca.1	+	0	1192	c.1192delT	c.(1192-1194)tttfs	p.F398fs	MUM1L1_uc004emg.2_Frame_Shift_Del_p.F398fs|MUM1L1_uc004emf.2_Frame_Shift_Del_p.F398fs	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	398	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GATAGTCTGGTTTAAATATCA	0.358													-	105450617	T	-	105450617	7	5	59	1	0	1	0	1	0	0	0	0	10062	1725	60	0	1194	0	MUM1L1	23	105450617	Frame_Shift_Del	DEL	T	TCGA-06-0743-01A-01D-1492-08	49800155	105450617	49819943	115	3810											
AGTR2	186	broad.mit.edu	37	chrX	115304521	115304521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggttccaacagaagctcCgcagtgtgtttagggttcca	9	10	11	11	2	0	1	0	0	0	1	3	1	3	1	4	2	2	5	4	2	3	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:115304521C>T	uc022cdd.1	+	0	988	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	AGTR2_uc004eqh.4_Missense_Mutation_p.R330C	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	330					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity	p.R330L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						ACAGAAGCTCCGCAGTGTGTT	0.463													T	115304521	C	T	115304521	3	4	59	1	0	0	0	0	1	0	0	0	402	652	23	1	990	1	AGTR2	23	115304521	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	9853904	115304521	39966039	116	3811											
MAGEC3	139081	broad.mit.edu	37	chrX	140966989	140966989	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccctatcagggtccccagGtttacaactttctgacttgc	8	12	8	13	0	2	1	1	1	1	0	3	2	3	1	3	2	3	1	3	2	3	5			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:140966989G>C	uc011mwp.2	+	2	287	c.287G>C	c.(286-288)gGt>gCt	p.G96A		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	96										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGGTCCCCAGGTTTACAACTT	0.582													C	140966989	G	C	140966989	3	2	59	1	0	0	0	0	1	0	0	0	9257	1261	44	4	297	4	MAGEC3	23	140966989	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08	25662468	140966989	14303571	117	3812											
FLNA	2316	broad.mit.edu	37	chrX	153588445	153588445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggggaagttgggcaCgggctggccgccgtacttga	5	9	17	10	3	0	1	0	1	0	0	0	2	0	2	2	5	2	5	2	5	2	4			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrX:153588445C>T	uc004fkk.2	-	21	3967	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1240					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627													T	153588445	C	T	153588445	3	4	59	1	0	0	0	0	1	0	0	0	5982	536	19	1	4333	1	FLNA	23	153588445	Missense_Mutation	SNP	C	TCGA-06-0743-01A-01D-1492-08	12621456	153588445	1682115	118	3813											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605460	5605460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctgctctatgccacaGcccaccactgtcacaggcct	7	8	8	18	0	3	0	1	0	2	0	3	0	3	0	5	2	3	1	5	2	1	1			TCGA-06-0743-01A-01D-1492-08	TCGA-06-0743-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	430e6ca1-d678-4373-8d8d-9d93412c8012	0c87c515-10e3-4b7d-8adb-6c88f04c6a22	g.chrY:5605460G>T	uc004fqo.3	+	4	4234	c.3500G>T	c.(3499-3501)aGc>aTc	p.S1167I	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1167					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTATGCCACAGCCCACCACTG	0.552													T	5605460	G	T	5605460	3	4	59	1	0	0	0	0	1	0	0	0	11585	971	34	4	3576	4	PCDH11Y	24	5605460	Missense_Mutation	SNP	G	TCGA-06-0743-01A-01D-1492-08		5605460	53768106	119	3814											
ARID4B	51742	broad.mit.edu	37	chr1	235345495	235345495	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgttttgaagtctttcAtcagagttatttaaaagttt	10	19	7	5	0	3	2	2	1	1	1	3	2	3	2	0	0	1	4	0	0	4	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr1:235345495A>T	uc021pks.1	-	19	3116	c.2739T>A	c.(2737-2739)gaT>gaA	p.D913E	ARID4B_uc001hwq.3_Missense_Mutation_p.D913E|ARID4B_uc001hwr.3_Missense_Mutation_p.D827E|ARID4B_uc001hws.4_Missense_Mutation_p.D827E|RBM34_uc001hwp.3_Non-coding_Transcript|ARID4B_uc001hwt.4_Missense_Mutation_p.D594E	NM_001206794	NP_001193723	Q4LE39	ARI4B_HUMAN	Homo sapiens AT rich interactive domain 4B (RBP1-like) (ARID4B), transcript variant 3, mRNA.	913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			GAAGTCTTTCATCAGAGTTAT	0.373													T	235345495	A	T	235345495	3	4	60	1	0	0	0	0	1	0	0	0	923	214	8	5	1219	5	ARID4B	1	235345495	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08		235345495	13905126	1	3815											
ZNF638	27332	broad.mit.edu	37	chr2	71651040	71651040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagcagtcttaccagaGgaggcagtggaaggatctca	12	7	13	9	0	3	2	2	0	2	2	4	5	3	5	1	4	2	2	1	4	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:71651040G>A	uc002shx.3	+	21	4719	c.4396G>A	c.(4396-4398)Gga>Aga	p.G1466R	ZNF638_uc010yqw.1_Missense_Mutation_p.G1045R|ZNF638_uc002shz.3_Missense_Mutation_p.G1466R|ZNF638_uc002shy.3_Missense_Mutation_p.G1466R|ZNF638_uc002sia.3_Missense_Mutation_p.G1466R|ZNF638_uc002sib.1_Intron|ZNF638_uc002sic.3_Missense_Mutation_p.G563R|ZNF638_uc002sid.3_Intron	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	1466					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTACCAGAGGAGGCAGTGG	0.463													A	71651040	G	A	71651040	3	1	60	1	0	0	0	0	1	0	0	0	18156	1001	35	2	4478	2	ZNF638	2	71651040	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		71651040	171548333	2	3816											
C2orf78	388960	broad.mit.edu	37	chr2	74042973	74042973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgctacagtcagtaacagCgcttctgtgaacaaggccaa	13	8	10	10	1	2	1	1	1	1	0	2	1	2	1	1	1	5	3	1	1	5	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:74042973C>T	uc002sjr.1	+	2	1744	c.1623C>T	c.(1621-1623)agC>agT	p.S541S		NM_001080474	NP_001073943	A6NCI8	CB078_HUMAN	Homo sapiens chromosome 2 open reading frame 78 (C2orf78), mRNA.	541										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TCAGTAACAGCGCTTCTGTGA	0.502													T	74042973	C	T	74042973	2	4	60	1	0	0	0	0	0	0	0	1	2216	767	27	1		1	C2orf78	2	74042973	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	2391933	74042973	169156400	3	3817											
C2orf89	129293	broad.mit.edu	37	chr2	85051153	85051153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgcctccgcttcttccGgaacctctgttcggcctcac	4	11	8	18	4	3	1	1	1	2	0	6	2	5	2	6	2	1	2	6	2	1	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:85051153G>A	uc010ysl.2	-	5	1347	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	C2orf89_uc002sou.4_Missense_Mutation_p.R371W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	420						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCTTCTTCCGGAACCTCTGT	0.667													A	85051153	G	A	85051153	3	1	60	1	0	0	0	0	1	0	0	0	2224	1115	39	1	267	1	C2orf89	2	85051153	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	11008180	85051153	158148220	4	3818											
RGPD4	285190	broad.mit.edu	37	chr2	108489249	108489249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggatctgaaagcaaaGtggaacctaaaaaatgtgaa	19	7	11	4	0	1	3	0	2	1	1	1	5	1	5	1	2	2	1	1	2	7	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:108489249G>A	uc010ywk.2	+	19	4871	c.4789G>A	c.(4789-4791)Gtg>Atg	p.V1597M	RGPD4_uc002tdu.3_Missense_Mutation_p.V784M|RGPD4_uc010ywl.2_Non-coding_Transcript	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	1597					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						TGAAAGCAAAGTGGAACCTAA	0.378													A	108489249	G	A	108489249	3	1	60	1	0	0	0	0	1	0	0	0	13376	1029	36	2	4867	2	RGPD4	2	108489249	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	23438096	108489249	134710124	5	3819											
TTN	7273	broad.mit.edu	37	chr2	179412923	179412923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggtagccagtgatccGgctgcctccatcgtggtcag	8	8	13	12	2	1	1	1	1	0	0	4	1	3	1	4	3	3	3	4	3	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:179412923G>A	uc021vsy.1	-	287	85951	c.85726C>T	c.(85726-85728)Cgg>Tgg	p.R28576W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22271W|TTN_uc021vta.1_Missense_Mutation_p.R22204W|TTN_uc021vtb.1_Missense_Mutation_p.R22079W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29503	Ig-like 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAGTGATCCGGCTGCCTCCA	0.493													A	179412923	G	A	179412923	3	1	60	1	0	0	0	0	1	0	0	0	16837	1115	39	1	14645	1	TTN	2	179412923	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	70923674	179412923	63786450	6	3820											
SPEG	10290	broad.mit.edu	37	chr2	220309407	220309407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggatgacatcagcgatGtgcagggaacccagcgcctg	10	6	14	11	2	1	2	1	2	0	0	1	5	1	4	2	2	4	1	2	2	1	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:220309407G>A	uc010fwg.3	+	1	421	c.421G>A	c.(421-423)Gtg>Atg	p.V141M	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_5'UTR|SPEG_uc002vln.1_5'UTR	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	141					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CATCAGCGATGTGCAGGGAAC	0.622													A	220309407	G	A	220309407	3	1	60	1	0	0	0	0	1	0	0	0	15132	1377	48	2	427	2	SPEG	2	220309407	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	40896484	220309407	22889966	7	3821											
DOCK10	55619	broad.mit.edu	37	chr2	225706579	225706579	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatctttctctctttttTggcactcttggaaaaatgca	10	17	5	9	0	4	0	0	0	4	0	5	1	4	1	0	2	1	2	0	2	3	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:225706579T>C	uc010fwz.1	-	22	2842	c.2603A>G	c.(2602-2604)cAa>cGa	p.Q868R	DOCK10_uc002vob.2_Missense_Mutation_p.Q862R	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	868	DHR-1.						GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		CTCTCTTTTTTGGCACTCTTG	0.383													C	225706579	T	C	225706579	3	2	60	1	0	0	0	0	1	0	0	0	4724	1812	63	3	4093	3	DOCK10	2	225706579	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	5397172	225706579	17492794	8	3822											
DGKD	8527	broad.mit.edu	37	chr2	234368926	234368926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttccctgcacccggagatGctgtccgaggaggaggccac	7	7	14	13	2	0	1	0	0	0	1	2	5	2	3	4	4	2	3	4	4	0	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr2:234368926G>A	uc002vui.1	+	23	2928	c.2916G>A	c.(2914-2916)atG>atA	p.M972I	DGKD_uc002vuj.1_Missense_Mutation_p.M928I|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	972					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	ACCCGGAGATGCTGTCCGAGG	0.617													A	234368926	G	A	234368926	3	1	60	1	0	0	0	0	1	0	0	0	4506	1319	46	2	3034	2	DGKD	2	234368926	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	8662347	234368926	8830447	9	3823											
IQCF3	401067	broad.mit.edu	37	chr3	51863721	51863721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagaaagacagaggcGgcagaaggtaggtggggccc	12	4	18	7	1	0	4	0	0	0	4	0	4	0	4	1	6	1	4	1	6	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:51863721G>A	uc021wyy.1	+	5	847	c.59G>A	c.(58-60)cGg>cAg	p.R20Q	IQCF1_uc003dbq.4_Intron|IQCF3_uc021wyz.1_Missense_Mutation_p.R20Q	NM_001085479	NP_001193952	P0C7M6	IQCF3_HUMAN	Homo sapiens IQ motif containing F3 (IQCF3), transcript variant 1, mRNA.	20										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGACAGAGGCGGCAGAAGGTA	0.522													A	51863721	G	A	51863721	3	1	60	1	0	0	0	0	1	0	0	0	7867	1116	39	1	65	1	IQCF3	3	51863721	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		51863721	146158709	10	3824											
POU1F1	5449	broad.mit.edu	37	chr3	87325559	87325559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcagagttgcagaggcGtcagaattcagaggtataaa	15	7	14	5	1	2	5	2	0	0	5	2	5	2	5	0	3	1	4	0	3	4	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:87325559G>A	uc010hoj.1	-	0	179	c.54C>T	c.(52-54)gaC>gaT	p.D18D	POU1F1_uc003dqq.1_Silent_p.D18D	NM_001122757	NP_001116229	P28069	PIT1_HUMAN	Homo sapiens POU class 1 homeobox 1 (POU1F1), transcript variant beta, mRNA.	18					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		TTGCAGAGGCGTCAGAATTCA	0.478													A	87325559	G	A	87325559	2	1	60	1	0	0	0	0	0	0	0	1	12346	1136	40	1		1	POU1F1	3	87325559	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	35461838	87325559	110696871	11	3825											
UROC1	131669	broad.mit.edu	37	chr3	126219669	126219669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtctgatctgaccccagGtccaccaagcactcccccgt	8	8	8	17	1	2	2	0	2	2	0	4	3	4	2	6	1	1	1	6	1	1	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:126219669G>C	uc010hsi.2	-	11	1248	c.1194C>G	c.(1192-1194)gaC>gaG	p.D398E	UROC1_uc003eiz.2_Missense_Mutation_p.D338E	NM_001165974	NP_001159446	Q96N76	HUTU_HUMAN	Homo sapiens urocanase domain containing 1 (UROC1), transcript variant 2, mRNA.	338					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CTGACCCCAGGTCCACCAAGC	0.632													C	126219669	G	C	126219669	3	2	60	1	0	0	0	0	1	0	0	0	17130	1252	44	4	1056	4	UROC1	3	126219669	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	38894110	126219669	71802761	12	3826											
ATR	545	broad.mit.edu	37	chr3	142280158	142280158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccttttgggtgatattcCatcactattactgctgaggt	8	15	9	9	1	1	2	1	2	0	0	2	2	2	2	2	2	2	1	2	2	3	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:142280158C>T	uc003eux.4	-	4	1398	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	426					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GGTGATATTCCATCACTATTA	0.418								Other conserved DNA damage response genes					T	142280158	C	T	142280158	3	4	60	1	0	0	0	0	1	0	0	0	1209	603	21	2	6830	2	ATR	3	142280158	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	16060489	142280158	55742272	13	3827											
MAP3K13	9175	broad.mit.edu	37	chr3	185165672	185165672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgtcatttgctggcaCggtcgcatggatggcgccag	8	9	14	10	3	1	1	1	0	0	1	2	2	1	2	1	4	1	3	1	4	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:185165672C>A	uc010hyf.3	+	5	1238	c.947C>A	c.(946-948)aCg>aAg	p.T316K	MAP3K13_uc011brt.2_Missense_Mutation_p.T109K|MAP3K13_uc003fph.4_Missense_Mutation_p.T84K|MAP3K13_uc011bru.2_Missense_Mutation_p.T172K|MAP3K13_uc003fpi.3_Missense_Mutation_p.T316K|MAP3K13_uc010hyg.3_Missense_Mutation_p.T6K	NM_001242314	NP_001229243	O43283	M3K13_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 13 (MAP3K13), transcript variant 2, mRNA.	316	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TTTGCTGGCACGGTCGCATGG	0.443													A	185165672	C	A	185165672	3	1	60	1	0	0	0	0	1	0	0	0	9322	536	19	4	961	4	MAP3K13	3	185165672	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	42885514	185165672	12856758	14	3828											
KNG1	3827	broad.mit.edu	37	chr3	186457116	186457116	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttctgttttcatggataGcaaagcctagattgcaacgc	11	12	9	9	1	2	1	1	0	1	1	2	3	2	2	1	1	4	3	1	1	4	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:186457116G>A	uc011bsa.2	+	9	1273	c.1039_splice	c.e9-1	p.Q347_splice	KNG1_uc003fqr.3_Splice_Site_p.Q347_splice|KNG1_uc021xil.1_Splice_Site_p.Q311_splice	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	347	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTCATGGATAGCAAAGCCTAG	0.373													A	186457116	G	A	186457116	5	1	60	1	0	0	0	0	0	0	1	0	8485	985	34	2	1072	2	KNG1	3	186457116	Splice_Site	SNP	G	TCGA-06-0744-01A-01W-0348-08	1291444	186457116	11565314	15	3829											
TP63	8626	broad.mit.edu	37	chr3	189582120	189582120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggagctgttatccgcGccatgcctgtctacaaaaaa	11	9	9	12	2	2	0	1	0	1	0	3	1	3	1	3	1	3	2	3	1	5	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr3:189582120G>A	uc003fry.2	+	4	768	c.679G>A	c.(679-681)Gcc>Acc	p.A227T	TP63_uc003frx.2_Missense_Mutation_p.A227T|TP63_uc003frz.2_Missense_Mutation_p.A227T|TP63_uc010hzc.1_Missense_Mutation_p.A227T|TP63_uc003fsa.2_Missense_Mutation_p.A133T|TP63_uc003fsb.2_Missense_Mutation_p.A133T|TP63_uc003fsc.2_Missense_Mutation_p.A133T|TP63_uc003fsd.2_Missense_Mutation_p.A133T|TP63_uc021xir.1_Missense_Mutation_p.A133T|TP63_uc010hzd.1_Missense_Mutation_p.A48T|TP63_uc003fse.1_Missense_Mutation_p.A108T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	227					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TGTTATCCGCGCCATGCCTGT	0.517										HNSCC(45;0.13)			A	189582120	G	A	189582120	3	1	60	1	0	0	0	0	1	0	0	0	16493	1087	38	1	743	1	TP63	3	189582120	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	3125004	189582120	8440310	16	3830											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107274	6107274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcctggtaggcggcacGcaggtcggctgccttggtct	3	9	17	12	4	1	0	0	0	1	0	2	0	1	0	2	6	2	4	2	6	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:6107274G>A	uc010idb.1	-	2	1036	c.550C>T	c.(550-552)Cgt>Tgt	p.R184C	JAKMIP1_uc010idc.1_Intron|JAKMIP1_uc010idd.1_Missense_Mutation_p.R184C|JAKMIP1_uc003giu.4_Missense_Mutation_p.R184C|JAKMIP1_uc011bwc.2_Intron|JAKMIP1_uc003giv.4_Missense_Mutation_p.R184C|JAKMIP1_uc010ide.3_Missense_Mutation_p.R184C	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	184	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCGGCACGCAGGTCGGCT	0.682													A	6107274	G	A	6107274	3	1	60	1	0	0	0	0	1	0	0	0	7998	1087	38	1	2096	1	JAKMIP1	4	6107274	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		6107274	185047002	17	3831											
CENPE	1062	broad.mit.edu	37	chr4	104079809	104079809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatatcacttttgagttggtCcctctcaatttgcaagcttt	9	17	6	9	0	2	1	2	1	1	0	4	1	3	1	1	1	2	3	1	1	4	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:104079809C>T	uc003hxb.1	-	22	2926	c.2836G>A	c.(2836-2838)Gac>Aac	p.D946N	CENPE_uc003hxc.1_Missense_Mutation_p.D921N	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	946					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTGAGTTGGTCCCTCTCAATT	0.333													T	104079809	C	T	104079809	3	4	60	1	0	0	0	0	1	0	0	0	3260	855	30	2	5377	2	CENPE	4	104079809	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	97972535	104079809	87074467	18	3832											
EXOSC9	5393	broad.mit.edu	37	chr4	122735086	122735086	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggagtagaaaactcctGgggtgatcttgaagactctg	12	9	14	6	0	2	5	0	2	2	3	3	6	3	6	1	3	1	1	1	3	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:122735086G>C	uc003iea.3	+	9	1148	c.1040G>C	c.(1039-1041)tGg>tCg	p.W347S	EXOSC9_uc003idz.3_Missense_Mutation_p.W347S|EXOSC9_uc003ieb.3_Missense_Mutation_p.W331S|EXOSC9_uc010inp.1_Non-coding_Transcript	NM_005033	NP_005024	Q06265	EXOS9_HUMAN	Homo sapiens exosome component 9 (EXOSC9), transcript variant 2, mRNA.	347					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|immune response|nuclear mRNA surveillance|nuclear polyadenylation-dependent rRNA catabolic process|positive regulation of cell growth|rRNA processing	cytosol|nuclear exosome (RNase complex)|nucleolus|nucleus	3'-5'-exoribonuclease activity|AU-rich element binding|protein binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|urinary_tract(1)	16						GAAAACTCCTGGGGTGATCTT	0.413													C	122735086	G	C	122735086	3	2	60	1	0	0	0	0	1	0	0	0	5363	1357	47	4	1078	4	EXOSC9	4	122735086	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	18655277	122735086	68419190	19	3833											
GYPA	2993	broad.mit.edu	37	chr4	145038021	145038021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacctttatcagtcggcGaataccgtaagaaattaaga	14	11	7	9	3	2	2	2	0	1	2	4	3	2	2	2	1	1	1	2	1	6	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:145038021G>A	uc003ijo.4	-	4	459	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	GYPA_uc003ijn.2_Intron|GYPA_uc011cia.2_Non-coding_Transcript|GYPA_uc011cib.2_Missense_Mutation_p.R82C|GYPA_uc003ijp.4_Missense_Mutation_p.R83C|GYPA_uc010ioq.3_Missense_Mutation_p.R102C|GYPA_uc010ior.3_Missense_Mutation_p.R50C|GYPA_uc010ios.1_Non-coding_Transcript	NM_002099	NP_002090	P02724	GLPA_HUMAN	Homo sapiens glycophorin A (MNS blood group) (GYPA), mRNA.	115					interspecies interaction between organisms	membrane fraction	receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10	all_hematologic(180;0.15)					ATCAGTCGGCGAATACCGTAA	0.368													A	145038021	G	A	145038021	3	1	60	1	0	0	0	0	1	0	0	0	6963	1058	37	1	121	1	GYPA	4	145038021	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	22302935	145038021	46116255	20	3834											
ADAM29	11086	broad.mit.edu	37	chr4	175897195	175897195	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcaaaatgaaataacatgCcgaatggaatttgaagaaat	20	9	8	4	1	0	3	0	2	0	1	0	5	0	4	1	1	3	1	1	1	8	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:175897195C>A	uc003iuc.3	+	4	1189	c.519C>A	c.(517-519)tgC>tgA	p.C173*	ADAM29_uc003iud.3_Nonsense_Mutation_p.C173*|ADAM29_uc010irr.3_Nonsense_Mutation_p.C173*|ADAM29_uc011cki.2_Nonsense_Mutation_p.C173*|ADAM29_uc021xuo.1_Nonsense_Mutation_p.C173*	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	173					proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AAATAACATGCCGAATGGAAT	0.368													A	175897195	C	A	175897195	4	1	60	1	0	0	0	0	0	1	0	0	247	747	26	4	521	4	ADAM29	4	175897195	Nonsense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	30859174	175897195	15257081	21	3835											
CCDC110	256309	broad.mit.edu	37	chr4	186381243	186381243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagttaatgtgtcctcGgaatgtatctgggatggaac	10	12	12	7	1	2	1	1	0	1	1	4	4	3	4	1	3	1	2	1	3	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr4:186381243G>A	uc003ixu.4	-	5	574	c.498C>T	c.(496-498)tcC>tcT	p.S166S	CCDC110_uc003ixv.4_Silent_p.S129S|CCDC110_uc011ckt.1_Silent_p.S166S	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	166						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATGTGTCCTCGGAATGTATCT	0.348													A	186381243	G	A	186381243	2	1	60	1	0	0	0	0	0	0	0	1	2773	1103	39	1		1	CCDC110	4	186381243	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	10484048	186381243	4773033	22	3836											
ADCY2	108	broad.mit.edu	37	chr5	7743842	7743842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggccttcatcctcttcGtctgctttgctggacagctt	3	16	9	13	1	3	0	1	0	2	0	5	1	4	1	2	2	4	4	2	2	0	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:7743842G>A	uc003jdz.1	+	14	2000	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	ADCY2_uc011cmo.1_Missense_Mutation_p.V465I	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	645					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATCCTCTTCGTCTGCTTTGC	0.478													A	7743842	G	A	7743842	3	1	60	1	0	0	0	0	1	0	0	0	294	1145	40	1	1991	1	ADCY2	5	7743842	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		7743842	173171418	23	3837											
PDZD2	23037	broad.mit.edu	37	chr5	31995769	31995769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggaggccgaggatcaaagCgctcacctcacgctatcgtt	9	8	12	12	4	3	0	3	0	0	0	4	3	3	2	2	3	1	3	2	3	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:31995769C>T	uc003jhl.3	+	3	1454	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	PDZD2_uc003jhm.3_Missense_Mutation_p.R356C|PDZD2_uc011cnx.1_Missense_Mutation_p.R182C	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	356	PDZ 2.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGGATCAAAGCGCTCACCTCA	0.532													T	31995769	C	T	31995769	3	4	60	1	0	0	0	0	1	0	0	0	11777	768	27	1	1076	1	PDZD2	5	31995769	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	24251927	31995769	148919491	24	3838											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576992	33576992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactagggctgctgattgCtggagtgcttgtgctcatag	7	12	15	7	0	1	1	1	1	0	0	1	3	1	3	0	3	4	5	0	3	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33576992C>T	uc003jia.1	-	18	3302	c.3139G>A	c.(3139-3141)Gca>Aca	p.A1047T	ADAMTS12_uc010iuq.1_Missense_Mutation_p.A962T	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1047	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1047E(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTGCTGATTGCTGGAGTGCTT	0.552										HNSCC(64;0.19)			T	33576992	C	T	33576992	3	4	60	1	0	0	0	0	1	0	0	0	257	797	28	2	1669	2	ADAMTS12	5	33576992	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	1581223	33576992	147338268	25	3839											
ADAMTS12	81792	broad.mit.edu	37	chr5	33684033	33684033	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcaatcatctttgtgtcGgccaccaccagtgtctccac	8	13	6	14	1	4	0	2	0	2	0	6	0	4	0	4	1	0	0	4	1	2	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:33684033G>A	uc003jia.1	-	3	925	c.762C>T	c.(760-762)gcC>gcT	p.A254A	ADAMTS12_uc010iuq.1_Silent_p.A254A	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	254	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTTTGTGTCGGCCACCACCA	0.547										HNSCC(64;0.19)			A	33684033	G	A	33684033	2	1	60	1	0	0	0	0	0	0	0	1	257	1103	39	1		1	ADAMTS12	5	33684033	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	107041	33684033	147231227	26	3840											
OSMR	9180	broad.mit.edu	37	chr5	38924670	38924670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggcgaggcagtgccacCcacgatttgaaaaggcagtt	12	6	12	11	2	0	1	0	1	0	0	0	3	0	1	3	3	1	3	3	3	3	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:38924670C>T	uc003jln.2	+	13	2419	c.2017C>T	c.(2017-2019)Cca>Tca	p.P673S	OSMR_uc011cpj.2_5'UTR	NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	673	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GCAGTGCCACCCACGATTTGA	0.358													T	38924670	C	T	38924670	3	4	60	1	0	0	0	0	1	0	0	0	11368	623	22	2	2105	2	OSMR	5	38924670	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	5240637	38924670	141990590	27	3841											
CMYA5	202333	broad.mit.edu	37	chr5	79035031	79035031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgaacaaaaagagttGggcagcgagaggaaagaaga	17	4	14	6	1	0	5	0	1	0	4	0	7	0	6	1	2	3	3	1	2	5	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:79035031G>A	uc003kgc.3	+	1	10515	c.10443G>A	c.(10441-10443)ttG>ttA	p.L3481L		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	3481						perinuclear region of cytoplasm		p.E3480*(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAAAAGAGTTGGGCAGCGAGA	0.403													A	79035031	G	A	79035031	2	1	60	1	0	0	0	0	0	0	0	1	3621	1339	47	2		2	CMYA5	5	79035031	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	40110361	79035031	101880229	28	3842											
CTNNA1	1495	broad.mit.edu	37	chr5	138253458	138253458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgcactggctttagcaGcaaaaccacagagtaaactg	14	8	9	10	0	0	1	0	0	0	1	0	1	0	1	1	1	6	6	1	1	5	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:138253458G>A	uc003ldh.3	+	10	1512	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	CTNNA1_uc011cyx.2_Missense_Mutation_p.A370T|CTNNA1_uc011cyy.2_Missense_Mutation_p.A350T|CTNNA1_uc003ldi.3_Missense_Mutation_p.A171T|CTNNA1_uc003ldj.3_Missense_Mutation_p.A473T|CTNNA1_uc003ldl.3_Missense_Mutation_p.A103T	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	473				A -> P (in Ref. 3; AAA86430/AAA18949).	adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GGCTTTAGCAGCAAAACCACA	0.388													A	138253458	G	A	138253458	3	1	60	1	0	0	0	0	1	0	0	0	4045	971	34	2	1455	2	CTNNA1	5	138253458	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	59218427	138253458	42661802	29	3843											
PCDHAC2	56140	broad.mit.edu	37	chr5	140222780	140222780	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgcatcccgttccgcgtggGgctgtacacgggcgagatca	6	8	14	13	6	1	1	1	0	0	1	4	2	3	1	2	3	1	4	2	3	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140222780G>T	uc003lhs.2	+	0	1874	c.1874G>T	c.(1873-1875)gGg>gTg	p.G625V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.G625V	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	636	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCGCGTGGGGCTGTACACG	0.652													T	140222780	G	T	140222780	3	4	60	1	0	0	0	0	1	0	0	0	11609	1232	43	4		4	PCDHAC2	5	140222780	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1969322	140222780	40692480	30	3844											
PCDHB7	56129	broad.mit.edu	37	chr5	140554382	140554382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgcgctcggccaccGccacgctgcacgtgctcctg	4	6	11	20	6	0	0	0	0	0	0	3	0	2	0	6	1	3	4	6	1	0	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:140554382G>A	uc003lit.3	+	0	2140	c.1966G>A	c.(1966-1968)Gcc>Acc	p.A656T	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	656	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T655T(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGGCCACCGCCACGCTGCA	0.706													A	140554382	G	A	140554382	3	1	60	1	0	0	0	0	1	0	0	0	11623	1087	38	1	1968	1	PCDHB7	5	140554382	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	331602	140554382	40360878	31	3845											
NMUR2	56923	broad.mit.edu	37	chr5	151771915	151771915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtcaggaagatgttcCgctgggcaggtggcaactgt	8	11	14	8	1	2	1	1	0	1	1	3	2	3	2	1	4	1	4	1	4	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr5:151771915C>T	uc003luv.2	-	3	1251	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	362					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.R362Q(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGATGTTCCGCTGGGCAGG	0.532													T	151771915	C	T	151771915	3	4	60	1	0	0	0	0	1	0	0	0	10583	652	23	1	166	1	NMUR2	5	151771915	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	11217533	151771915	29143345	32	3846											
TRIM40	135644	broad.mit.edu	37	chr6	30114887	30114887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcacatgccagcagaagcGgccagaatccttgacatctc	12	6	10	13	1	1	3	0	1	1	2	3	4	2	3	3	1	4	2	3	1	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30114887G>A	uc003npk.2	+	3	953	c.567G>A	c.(565-567)gcG>gcA	p.A189A	TRIM40_uc003npm.2_Silent_p.A160A	NM_138700	NP_619645	Q6P9F5	TRI40_HUMAN	Homo sapiens tripartite motif containing 40 (TRIM40), mRNA.	189						intracellular	zinc ion binding			ovary(1)	1						CAGCAGAAGCGGCCAGAATCC	0.597													A	30114887	G	A	30114887	2	1	60	1	0	0	0	0	0	0	0	1	16616	1103	39	1		1	TRIM40	6	30114887	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08		30114887	141000180	33	3847											
TRIM10	10107	broad.mit.edu	37	chr6	30127012	30127012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagacatttaagacacttaTggatttgttcctggggagaa	12	14	10	5	0	0	3	0	0	0	3	1	5	1	4	1	3	0	1	1	3	4	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:30127012T>C	uc003npo.3	-	1	516	c.440A>G	c.(439-441)cAt>cGt	p.H147R	TRIM10_uc003npn.2_Missense_Mutation_p.H147R	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	147						cytoplasm	zinc ion binding			ovary(1)	1						AAGACACTTATGGATTTGTTC	0.403													C	30127012	T	C	30127012	3	2	60	1	0	0	0	0	1	0	0	0	16587	1464	51	3	1117	3	TRIM10	6	30127012	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	12125	30127012	140988055	34	3848											
GPR115	221393	broad.mit.edu	37	chr6	47681719	47681719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagacaaaagggtttcaCatcaaccataatacctcaga	17	9	5	10	0	4	2	4	0	0	2	4	2	4	2	2	1	2	1	2	1	5	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:47681719C>A	uc003oyz.1	+	6	909	c.909C>A	c.(907-909)caC>caA	p.H303Q	GPR115_uc003oza.1_Missense_Mutation_p.H246Q|GPR115_uc003ozb.1_Missense_Mutation_p.H246Q|RN7SK_uc021zaf.1_5'Flank	NM_153838	NP_722580	Q8IZF3	GP115_HUMAN	Homo sapiens G protein-coupled receptor 115 (GPR115), mRNA.	246					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						AAGGGTTTCACATCAACCATA	0.393													A	47681719	C	A	47681719	3	1	60	1	0	0	0	0	1	0	0	0	6686	477	17	4	756	4	GPR115	6	47681719	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	17554707	47681719	123433348	35	3849											
DOPEY1	23033	broad.mit.edu	37	chr6	83830474	83830474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggatctaaagccttttCgcattttaatcagtttactg	10	16	7	8	1	2	0	1	0	1	0	3	1	2	1	1	1	3	3	1	1	4	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:83830474C>T	uc011dyy.2	+	9	1296	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	DOPEY1_uc003pjs.1_Missense_Mutation_p.R355C|DOPEY1_uc010kbl.1_Missense_Mutation_p.R346C	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	355					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		AAAGCCTTTTCGCATTTTAAT	0.368													T	83830474	C	T	83830474	3	4	60	1	0	0	0	0	1	0	0	0	4746	884	31	1	1093	1	DOPEY1	6	83830474	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	36148755	83830474	87284593	36	3850											
AIM1	202	broad.mit.edu	37	chr6	106978130	106978130	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctactttgatgatactgAagaaatgcagggatttggtg	11	14	11	5	0	0	4	0	3	0	1	1	5	1	5	1	2	3	1	1	2	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr6:106978130A>C	uc003prh.3	+	5	4346	c.3434A>C	c.(3433-3435)gAa>gCa	p.E1145A		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1145	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GATGATACTGAAGAAATGCAG	0.328													C	106978130	A	C	106978130	3	2	60	1	0	0	0	0	1	0	0	0	430	246	9	5	3456	5	AIM1	6	106978130	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	23147656	106978130	64136937	37	3851											
ELMO1	9844	broad.mit.edu	37	chr7	37253052	37253052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgatggcccgctgggctCggatgacatgctagggagat	7	10	16	8	2	0	3	0	2	0	1	1	5	0	4	1	4	1	4	1	4	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37253052C>T	uc022abv.1	-	11	1552	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	ELMO1_uc011kbc.2_Missense_Mutation_p.R185Q|ELMO1_uc003tfk.2_Missense_Mutation_p.R281Q|ELMO1_uc010kxg.2_Missense_Mutation_p.R281Q	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	281					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.I280I(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCGCTGGGCTCGGATGACATG	0.433													T	37253052	C	T	37253052	3	4	60	1	0	0	0	0	1	0	0	0	5106	884	31	1	1385	1	ELMO1	7	37253052	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08		37253052	121885611	38	3852											
ELMO1	9844	broad.mit.edu	37	chr7	37298915	37298915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcttggcatccatactcGaggactggattcgttcatgg	8	11	11	11	2	1	0	1	0	0	0	4	3	2	2	2	4	2	3	2	4	1	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:37298915G>A	uc022abv.1	-	5	994	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ELMO1_uc011kbc.2_5'UTR|ELMO1_uc003tfk.2_Missense_Mutation_p.S95L|ELMO1_uc010kxg.2_Missense_Mutation_p.S95L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	95					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.S95S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						ATCCATACTCGAGGACTGGAT	0.522													A	37298915	G	A	37298915	3	1	60	1	0	0	0	0	1	0	0	0	5106	1059	37	1	1967	1	ELMO1	7	37298915	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	45863	37298915	121839748	39	3853											
WBSCR17	64409	broad.mit.edu	37	chr7	70881029	70881029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcttctttgatgcccaCgtggaattcaccgctggctg	6	12	11	12	2	2	1	1	1	1	0	2	2	2	2	2	3	1	3	2	3	1	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:70881029C>T	uc003tvy.3	+	3	744	c.744C>T	c.(742-744)caC>caT	p.H248H	WBSCR17_uc003tvz.3_5'UTR	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	248	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TTGATGCCCACGTGGAATTCA	0.567													T	70881029	C	T	70881029	2	4	60	1	0	0	0	0	0	0	0	1	17366	535	19	1		1	WBSCR17	7	70881029	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	33582114	70881029	88257634	40	3854											
NSUN5	55695	broad.mit.edu	37	chr7	72721634	72721634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcattccggctcacaccccGatgaaccttgagccgagcca	9	7	8	17	3	2	2	2	2	0	0	3	4	3	2	6	1	3	1	6	1	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:72721634G>A	uc003txw.3	-	2	414	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R113W|NSUN5_uc003txv.3_Missense_Mutation_p.R113W|NSUN5_uc003txx.3_Missense_Mutation_p.R75W	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	113							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CTCACACCCCGATGAACCTTG	0.637													A	72721634	G	A	72721634	3	1	60	1	0	0	0	0	1	0	0	0	10757	1057	37	1	1116	1	NSUN5	7	72721634	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1840605	72721634	86417029	41	3855											
SAMD9	54809	broad.mit.edu	37	chr7	92734204	92734204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattatctaacaaatCttgatttcctgtcaataatt	14	17	4	6	0	3	2	1	2	2	0	4	2	4	2	1	0	1	1	1	0	7	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:92734204C>A	uc003umf.3	-	2	1477	c.1207G>T	c.(1207-1209)Gat>Tat	p.D403Y	SAMD9_uc003umg.3_Missense_Mutation_p.D403Y|SAMD9_uc022ahg.1_Missense_Mutation_p.D403Y	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	403						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTAACAAATCTTGATTTCCT	0.323													A	92734204	C	A	92734204	3	1	60	1	0	0	0	0	1	0	0	0	13917	913	32	4	3566	4	SAMD9	7	92734204	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	20012570	92734204	66404459	42	3856											
PON1	5444	broad.mit.edu	37	chr7	94931534	94931534	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgatgcaggaggatTctctgagtcatagaagaaga	13	10	11	7	0	3	5	1	2	2	3	4	7	3	7	1	2	2	1	1	2	4	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:94931534T>A	uc003uns.3	-	7	989	c.892A>T	c.(892-894)Aat>Tat	p.N298Y	PON1_uc011kih.2_Missense_Mutation_p.N298Y	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	298					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCAGGAGGATTCTCTGAGTCA	0.398													A	94931534	T	A	94931534	3	1	60	1	0	0	0	0	1	0	0	0	12325	1783	62	5	183	5	PON1	7	94931534	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	2197330	94931534	64207129	43	3857											
MUC17	140453	broad.mit.edu	37	chr7	100675948	100675948	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccacttcaacaattccTgttgactccaaaacttttgt	12	13	4	12	0	1	1	1	1	0	0	3	1	3	1	3	0	3	2	3	0	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:100675948T>C	uc003uxp.1	+	2	1304	c.1251T>C	c.(1249-1251)ccT>ccC	p.P417P	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	417	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.I416N(1)		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)					CAACAATTCCTGTTGACTCCA	0.458													C	100675948	T	C	100675948	2	2	60	1	0	0	0	0	0	0	0	1	10050	1567	55	3		3	MUC17	7	100675948	Silent	SNP	T	TCGA-06-0744-01A-01W-0348-08	5744414	100675948	58462715	44	3858											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884194	143884194	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaatctgagtcacgAgatatgaggcacctggaaac	12	7	12	10	2	2	3	1	2	1	1	3	6	3	5	2	3	1	1	2	3	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:143884194A>T	uc003wdz.2	-	1	1456	c.1283T>A	c.(1282-1284)cTc>cAc	p.L428H	ARHGEF35_uc022aog.1_Missense_Mutation_p.L428H	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	428										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CTGAGTCACGAGATATGAGGC	0.572													T	143884194	A	T	143884194	3	4	60	1	0	0	0	0	1	0	0	0	908	304	11	5	175	5	ARHGEF35	7	143884194	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	43208246	143884194	15254469	45	3859											
GALNT11	63917	broad.mit.edu	37	chr7	151805176	151805176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgaatgtgatgtggctgCagcccttgctggccgccatc	7	10	13	11	1	0	2	0	2	0	0	1	2	0	2	3	2	3	3	3	2	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr7:151805176C>G	uc010lqg.1	+	5	996	c.766C>G	c.(766-768)Cag>Gag	p.Q256E	GALNT11_uc011kvm.1_Missense_Mutation_p.Q175E|GALNT11_uc003wku.2_Missense_Mutation_p.Q256E|GALNT11_uc011kvn.1_Non-coding_Transcript|GALNT11_uc003wkw.1_Missense_Mutation_p.Q4E	NM_022087	NP_071370	Q8NCW6	GLT11_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11) (GALNT11), mRNA.	256	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		GATGTGGCTGCAGCCCTTGCT	0.582													G	151805176	C	G	151805176	3	3	60	1	0	0	0	0	1	0	0	0	6263	711	25	4	784	4	GALNT11	7	151805176	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	7920982	151805176	7333487	46	3860											
DOCK5	80005	broad.mit.edu	37	chr8	25167952	25167952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccttgaagctcttgcccGgtgacctcacccaggttcag	7	11	9	14	1	3	2	2	2	1	0	4	2	4	2	4	2	2	2	4	2	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:25167952G>A	uc003xeg.3	+	12	1359	c.1222G>A	c.(1222-1224)Ggt>Agt	p.G408S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.G122S|DOCK5_uc003xei.3_5'UTR	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	408						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCTCTTGCCCGGTGACCTCAC	0.408													A	25167952	G	A	25167952	3	1	60	1	0	0	0	0	1	0	0	0	4729	1116	39	1	1272	1	DOCK5	8	25167952	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		25167952	121196070	47	3861											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730005	37730005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccatgggaagagggggcGccacttcttcagctgcatcc	7	8	12	14	1	2	1	1	0	1	1	4	2	4	2	3	3	2	2	3	3	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:37730005G>A	uc003xkm.2	-	3	2371	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_Missense_Mutation_p.A101V|RAB11FIP1_uc003xko.1_Missense_Mutation_p.A101V|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	772					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGAGGGGGCGCCACTTCTTC	0.567													A	37730005	G	A	37730005	3	1	60	1	0	0	0	0	1	0	0	0	12981	1087	38	1	1548	1	RAB11FIP1	8	37730005	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	12562053	37730005	108634017	48	3862											
RIMS2	9699	broad.mit.edu	37	chr8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattataatacaattagcCgaatggacagacatcgtgtc	15	10	8	8	2	0	1	0	0	0	1	2	4	0	2	1	1	2	0	1	1	6	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:105001597C>T	uc003yls.3	+	14	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1060					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)			T	105001597	C	T	105001597	4	4	60	1	0	0	0	0	0	1	0	0	13459	644	23	1	3184	1	RIMS2	8	105001597	Nonsense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	67271592	105001597	41362425	49	3863											
ENPP2	5168	broad.mit.edu	37	chr8	120569920	120569920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctacccattttgattcGtcctctgagctctgcaatgg	6	16	7	12	1	4	2	0	2	4	0	6	2	5	2	2	1	3	2	2	1	2	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:120569920G>A	uc003yos.2	-	25	2675	c.2589C>T	c.(2587-2589)gaC>gaT	p.D863D	ENPP2_uc011lic.2_Silent_p.D349D|ENPP2_uc003yor.2_Silent_p.D446D|ENPP2_uc010mdd.2_Silent_p.D836D|ENPP2_uc003yot.2_Silent_p.D811D	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	811					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.E862K(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATTTTGATTCGTCCTCTGAGC	0.453													A	120569920	G	A	120569920	2	1	60	1	0	0	0	0	0	0	0	1	5171	1136	40	1		1	ENPP2	8	120569920	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	15568323	120569920	25794102	50	3864											
GLI4	2738	broad.mit.edu	37	chr8	144358513	144358513	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcgcttccgcggctggTcgggcttcatccagcaccac	6	7	12	16	4	1	0	1	0	0	0	4	0	3	0	3	3	2	5	3	3	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144358513T>G	uc003yxx.3	+	3	755	c.670T>G	c.(670-672)Tcg>Gcg	p.S224A	ZFP41_uc003yxv.3_Non-coding_Transcript	NM_138465	NP_612474	P10075	GLI4_HUMAN	Homo sapiens GLI family zinc finger 4 (GLI4), mRNA.	224						nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(5)	9	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CCGCGGCTGGTCGGGCTTCAT	0.652													G	144358513	T	G	144358513	3	3	60	1	0	0	0	0	1	0	0	0	6496	1667	58	5	680	5	GLI4	8	144358513	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	23788593	144358513	2005509	51	3865											
EPPK1	83481	broad.mit.edu	37	chr8	144940380	144940380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcacggggtcgatgaCgccgcccgtggcgatctggg	4	7	18	12	6	1	1	0	1	1	0	2	3	1	1	2	4	1	2	2	4	0	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr8:144940380C>T	uc003zaa.1	-	0	7055	c.7042G>A	c.(7042-7044)Gtc>Atc	p.V2348I		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2348						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTCGATGACGCCGCCCGTG	0.697													T	144940380	C	T	144940380	3	4	60	1	0	0	0	0	1	0	0	0	5231	536	19	1	224	1	EPPK1	8	144940380	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	581867	144940380	1423642	52	3866											
TAF1L	138474	broad.mit.edu	37	chr9	32630560	32630560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgagacgtactgagggatGtgttggtatcatacatatca	11	12	11	7	2	2	2	2	1	0	1	3	4	2	3	0	2	2	3	0	2	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:32630560G>C	uc003zrg.1	-	0	5108	c.5018C>G	c.(5017-5019)aCa>aGa	p.T1673R	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1673					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		ACTGAGGGATGTGTTGGTATC	0.473													C	32630560	G	C	32630560	3	2	60	1	0	0	0	0	1	0	0	0	15620	1377	48	4	466	4	TAF1L	9	32630560	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		32630560	108582871	53	3867											
FAM75C1	441452	broad.mit.edu	37	chr9	90536517	90536517	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttgaggagtgactcAggaagtgatttattaagacg	13	10	12	6	1	1	4	1	3	0	1	1	6	1	6	1	2	1	0	1	2	4	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:90536517A>G	uc010mqi.3	+	3	1724	c.1695A>G	c.(1693-1695)tcA>tcG	p.S565S	FAM75C1_uc004apq.4_Silent_p.S548S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAGTGACTCAGGAAGTGATT	0.507													G	90536517	A	G	90536517	2	3	60	1	0	0	0	0	0	0	0	1	5673	175	7	3		3	FAM75C1	9	90536517	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	57905957	90536517	50676914	54	3868											
C9orf156	51531	broad.mit.edu	37	chr9	100672419	100672419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcttccttgcaagaCtgctgctccttccactcttt	4	15	6	16	0	1	1	0	0	1	1	4	1	4	1	4	0	5	4	4	0	1	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:100672419C>A	uc004axv.1	-	3	966	c.889G>T	c.(889-891)Gtc>Ttc	p.V297F	C9orf156_uc004axw.1_Missense_Mutation_p.V194F|C9orf156_uc010msq.1_Missense_Mutation_p.V194F	NM_016481	NP_057565	Q9BU70	NAP1_HUMAN	Homo sapiens chromosome 9 open reading frame 156 (C9orf156), mRNA.	297					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				CCTTGCAAGACTGCTGCTCCT	0.562													A	100672419	C	A	100672419	3	1	60	1	0	0	0	0	1	0	0	0	2491	565	20	4	444	4	C9orf156	9	100672419	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	10135902	100672419	40541012	55	3869											
ANKS6	203286	broad.mit.edu	37	chr9	101530447	101530447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggccccacagggcttgaCcgatggctgggtttctgctc	4	10	14	13	1	1	1	0	1	1	0	2	2	1	1	3	4	1	5	3	4	0	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:101530447C>T	uc004ayu.3	-	10	2079	c.2058G>A	c.(2056-2058)cgG>cgA	p.R686R	ANKS6_uc004ayv.2_Silent_p.R148R|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.R385R	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	686	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CAGGGCTTGACCGATGGCTGG	0.577													T	101530447	C	T	101530447	2	4	60	1	0	0	0	0	0	0	0	1	692	494	18	2		2	ANKS6	9	101530447	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	858028	101530447	39682984	56	3870											
GRIN3A	116443	broad.mit.edu	37	chr9	104499635	104499635	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggactaagctgaccaagtcGagctccatcatttcgccctg	10	9	9	13	2	1	1	1	1	0	0	4	3	2	2	3	1	2	2	3	1	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:104499635G>A	uc004bbp.2	-	0	1228	c.627C>T	c.(625-627)ctC>ctT	p.L209L	GRIN3A_uc004bbq.1_Silent_p.L209L	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	209					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	TGACCAAGTCGAGCTCCATCA	0.597													A	104499635	G	A	104499635	2	1	60	1	0	0	0	0	0	0	0	1	6838	1045	37	1		1	GRIN3A	9	104499635	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	2969188	104499635	36713796	57	3871											
OR13C5	138799	broad.mit.edu	37	chr9	107361108	107361108	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacaagcaggatgaacTcattgcctgagatgtcagca	12	9	11	9	0	3	2	3	2	0	1	3	4	3	3	1	2	4	2	1	2	2	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:107361108T>A	uc011lvp.2	-	0	587	c.587A>T	c.(586-588)gAg>gTg	p.E196V		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CAGGATGAACTCATTGCCTGA	0.383													A	107361108	T	A	107361108	3	1	60	1	0	0	0	0	1	0	0	0	11013	1551	54	5	371	5	OR13C5	9	107361108	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	2861473	107361108	33852323	58	3872											
KCNT1	57582	broad.mit.edu	37	chr9	138671275	138671275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcttcatgcagttccgcGccaaggacagctactctctg	7	10	10	14	3	2	0	1	0	1	0	4	1	3	1	2	1	4	4	2	1	2	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr9:138671275G>A	uc011mdq.2	+	23	2874	c.2800G>A	c.(2800-2802)Gcc>Acc	p.A934T	KCNT1_uc011mdr.2_Missense_Mutation_p.A761T|KCNT1_uc010nbf.3_Missense_Mutation_p.A889T|KCNT1_uc004cgo.1_Missense_Mutation_p.A683T	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	934						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCAGTTCCGCGCCAAGGACAG	0.622													A	138671275	G	A	138671275	3	1	60	1	0	0	0	0	1	0	0	0	8149	1087	38	1	2894	1	KCNT1	9	138671275	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	31310167	138671275	2542156	59	3873											
RIC8A	60626	broad.mit.edu	37	chr11	209578	209578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgacatctctgtctctGaggggtccgtcccagagtcc	6	11	11	13	1	2	3	0	2	2	1	7	3	5	3	3	2	1	1	3	2	0	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:209578G>A	uc001lof.3	+	2	629	c.304G>A	c.(304-306)Gag>Aag	p.E102K	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Missense_Mutation_p.E102K|RIC8A_uc001loh.3_Missense_Mutation_p.E95K	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	102						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTCTGTCTCTGAGGGGTCCGT	0.617													A	209578	G	A	209578	3	1	60	1	0	0	0	0	1	0	0	0	13444	1291	45	2	314	2	RIC8A	11	209578	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		209578	134796938	60	3874											
GALNTL4	374378	broad.mit.edu	37	chr11	11398782	11398782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggccttggggggatttagGtagcggcaccacagctccca	8	7	14	12	1	0	0	0	0	0	0	1	1	1	1	3	6	2	3	3	6	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:11398782G>A	uc001mjo.2	-	4	1345	c.924C>T	c.(922-924)taC>taT	p.Y308Y		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	308						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		GGGGATTTAGGTAGCGGCACC	0.532													A	11398782	G	A	11398782	2	1	60	1	0	0	0	0	0	0	0	1	6277	1256	44	2		2	GALNTL4	11	11398782	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	11189204	11398782	123607734	61	3875											
C11orf41	25758	broad.mit.edu	37	chr11	33564672	33564672	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccatctcctgtgccAgaaatgcccactcttccagc	7	9	6	19	0	2	1	0	0	2	1	5	1	4	1	7	0	3	0	7	0	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:33564672A>G	uc021qfs.1	+	0	796	c.672A>G	c.(670-672)ccA>ccG	p.P224P	C11orf41_uc001mun.1_Silent_p.P224P	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	224						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						CTCCTGTGCCAGAAATGCCCA	0.537											OREG0020868	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33564672	A	G	33564672	2	3	60	1	0	0	0	0	0	0	0	1	1652	175	7	3		3	C11orf41	11	33564672	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	22165890	33564672	101441844	62	3876											
OR4A47	403253	broad.mit.edu	37	chr11	48510526	48510526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaccaatgtacttctttcTtgctggcttatcatttatag	8	18	5	10	0	4	0	2	0	2	0	4	0	4	0	1	1	2	3	1	1	5	8			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:48510526T>C	uc010rhx.2	+	0	182	c.182T>C	c.(181-183)cTt>cCt	p.L61P		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						TACTTCTTTCTTGCTGGCTTA	0.408													C	48510526	T	C	48510526	3	2	60	1	0	0	0	0	1	0	0	0	11118	1609	56	3	184	3	OR4A47	11	48510526	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	14945854	48510526	86495990	63	3877											
OR5I1	10798	broad.mit.edu	37	chr11	55703856	55703856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcagtgaccaacgtgtaGtttctatctgtaaattccat	12	14	6	9	1	3	1	1	1	2	0	4	1	4	1	2	0	2	3	2	0	6	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:55703856G>C	uc010ris.2	-	0	21	c.21C>G	c.(19-21)aaC>aaG	p.N7K		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R6R(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CCAACGTGTAGTTTCTATCTG	0.333													C	55703856	G	C	55703856	3	2	60	1	0	0	0	0	1	0	0	0	11240	1020	36	4	926	4	OR5I1	11	55703856	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	7193330	55703856	79302660	64	3878											
SLC22A8	9376	broad.mit.edu	37	chr11	62767306	62767306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtcaggatgggcctgCggccaaacctgtagctcgaa	9	7	14	11	2	1	0	1	0	0	0	2	2	1	1	3	4	4	3	3	4	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:62767306C>T	uc009yon.3	-	3	567	c.446G>A	c.(445-447)cGc>cAc	p.R149H	SLC22A8_uc001nwn.1_5'Flank|SLC22A8_uc009yom.3_Missense_Mutation_p.R26H|SLC22A8_uc001nwo.3_Missense_Mutation_p.R149H|SLC22A8_uc010rmm.2_Missense_Mutation_p.R58H|SLC22A8_uc001nwp.2_Missense_Mutation_p.R149H	NM_001184732	NP_001171665	Q8TCC7	S22A8_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 8 (SLC22A8), transcript variant 2, mRNA.	149			R -> S (complete loss of function; dbSNP:rs45566039).		response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GATGGGCCTGCGGCCAAACCT	0.627													T	62767306	C	T	62767306	3	4	60	1	0	0	0	0	1	0	0	0	14554	768	27	1	1214	1	SLC22A8	11	62767306	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	7063450	62767306	72239210	65	3879											
HTR3A	3359	broad.mit.edu	37	chr11	113860380	113860380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccgagactggctgcgCgtgggctccgtgctggacaa	5	7	17	12	4	0	1	0	0	0	1	1	3	1	2	2	4	2	3	2	4	1	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:113860380C>T	uc010rxb.2	+	7	1679	c.1446C>T	c.(1444-1446)cgC>cgT	p.R482R	HTR3A_uc010rxa.2_Silent_p.R450R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R429R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	444					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACTGGCTGCGCGTGGGCTCCG	0.612													T	113860380	C	T	113860380	2	4	60	1	0	0	0	0	0	0	0	1	7502	755	27	1		1	HTR3A	11	113860380	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	51093074	113860380	21146136	66	3880											
C2CD2L	9854	broad.mit.edu	37	chr11	118984640	118984640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgacagagcccagtgggcGggtggccaagaagacaccca	11	3	15	12	1	0	4	0	1	0	3	0	4	0	4	3	3	1	1	3	3	2	0			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:118984640G>A	uc001pvn.3	+	11	1927	c.1568G>A	c.(1567-1569)cGg>cAg	p.R523Q	C2CD2L_uc001pvo.3_Missense_Mutation_p.R522Q	NM_014807	NP_055622	O14523	C2C2L_HUMAN	Homo sapiens C2CD2-like (C2CD2L), mRNA.	522						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)	13						CCCAGTGGGCGGGTGGCCAAG	0.587													A	118984640	G	A	118984640	3	1	60	1	0	0	0	0	1	0	0	0	2174	1116	39	1	1614	1	C2CD2L	11	118984640	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	5124260	118984640	16021876	67	3881											
OR6M1	390261	broad.mit.edu	37	chr11	123676407	123676407	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaggatggtagaaattatGtacacgtaggacccagtagt	13	9	12	7	2	0	1	0	0	0	1	0	3	0	3	1	3	1	5	1	3	6	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123676407G>A	uc010rzz.2	-	0	651	c.651C>T	c.(649-651)taC>taT	p.Y217Y		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		TAGAAATTATGTACACGTAGG	0.493													A	123676407	G	A	123676407	2	1	60	1	0	0	0	0	0	0	0	1	11281	1372	48	2		2	OR6M1	11	123676407	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	4691767	123676407	11330109	68	3882											
OR10G9	219870	broad.mit.edu	37	chr11	123894514	123894514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaccaggctccagggaCgtcgtggatggagttgtggc	7	8	17	9	2	0	1	0	1	0	1	2	5	1	4	2	5	0	2	2	5	0	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123894514C>T	uc010sad.2	+	0	795	c.795C>T	c.(793-795)gaC>gaT	p.D265D		NM_001001953	NP_001001953	Q8NGN4	O10G9_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 9 (OR10G9), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GCTCCAGGGACGTCGTGGATG	0.517													T	123894514	C	T	123894514	2	4	60	1	0	0	0	0	0	0	0	1	10980	535	19	1		1	OR10G9	11	123894514	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	218107	123894514	11112002	69	3883											
OR10G7	390265	broad.mit.edu	37	chr11	123908977	123908977	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaagcaaaggaccacgatAcagtgggaggcacaggtctg	15	4	14	8	1	1	1	0	0	1	1	1	4	1	3	1	4	2	2	1	4	4	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr11:123908977A>G	uc001pzq.1	-	0	732	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACCACGATACAGTGGGAGG	0.567													G	123908977	A	G	123908977	2	3	60	1	0	0	0	0	0	0	0	1	10978	389	14	3		3	OR10G7	11	123908977	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	14463	123908977	11097539	70	3884											
TSPAN9	10867	broad.mit.edu	37	chr12	3388164	3388164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcctttccagtttttcAtcgtcctgttggtcatcctc	3	19	5	14	1	2	0	2	0	0	0	8	0	6	0	5	1	0	2	5	1	0	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr12:3388164A>G	uc001qlp.3	+	4	445	c.262A>G	c.(262-264)Atc>Gtc	p.I88V	TSPAN9_uc021qtd.1_Missense_Mutation_p.I88V	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	88						integral to plasma membrane|membrane fraction				endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			CCAGTTTTTCATCGTCCTGTT	0.552													G	3388164	A	G	3388164	3	3	60	1	0	0	0	0	1	0	0	0	16755	217	8	3	272	3	TSPAN9	12	3388164	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08		3388164	130463731	71	3885											
PSMB11	122706	broad.mit.edu	37	chr14	23511816	23511816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcccagtgtggccagtGctgccaagctcttgtcagcc	6	9	12	14	0	2	0	1	0	1	0	2	0	2	0	4	1	6	3	4	1	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:23511816G>A	uc010ake.1	+	0	441	c.382G>A	c.(382-384)Gct>Act	p.A128T		NM_001099780	NP_001093250	A5LHX3	PSB11_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 11 (PSMB11), mRNA.	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TGTGGCCAGTGCTGCCAAGCT	0.622													A	23511816	G	A	23511816	3	1	60	1	0	0	0	0	1	0	0	0	12761	1319	46	2	384	2	PSMB11	14	23511816	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		23511816	83837724	72	3886											
ARHGAP5	394	broad.mit.edu	37	chr14	32561267	32561267	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaggatgaagcctacaaAtatatcactgaggctgatag	15	9	11	6	0	1	3	1	3	0	0	1	5	1	5	1	3	2	1	1	3	6	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561267A>G	uc001wrl.3	+	1	1631	c.1392A>G	c.(1390-1392)aaA>aaG	p.K464K	ARHGAP5_uc001wrm.3_Silent_p.K464K|ARHGAP5_uc001wrn.3_Silent_p.K464K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	464	FF 3.				cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding	p.Y463F(1)		NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AAGCCTACAAATATATCACTG	0.373													G	32561267	A	G	32561267	2	3	60	1	0	0	0	0	0	0	0	1	889	98	4	3		3	ARHGAP5	14	32561267	Silent	SNP	A	TCGA-06-0744-01A-01W-0348-08	9049451	32561267	74788273	73	3887											
ARHGAP5	394	broad.mit.edu	37	chr14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagaaaagataaatacAtggctaatcttccatttaca	18	11	5	7	0	2	3	1	0	1	3	3	3	3	3	1	1	2	1	1	1	7	6			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:32561946A>T	uc001wrl.3	+	1	2310	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	691					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358													T	32561946	A	T	32561946	3	4	60	1	0	0	0	0	1	0	0	0	889	217	8	5	2073	5	ARHGAP5	14	32561946	Missense_Mutation	SNP	A	TCGA-06-0744-01A-01W-0348-08	679	32561946	74787594	74	3888											
LRFN5	145581	broad.mit.edu	37	chr14	42360832	42360832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaacgctgccccagtccGtgtccaaacaagctgtggga	9	8	12	12	2	0	0	0	0	0	0	2	1	2	1	4	1	4	3	4	1	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:42360832G>A	uc001wvm.3	+	3	2963	c.1765G>A	c.(1765-1767)Gtg>Atg	p.V589M	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	589						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCCAGTCCGTGTCCAAACA	0.463										HNSCC(30;0.082)			A	42360832	G	A	42360832	3	1	60	1	0	0	0	0	1	0	0	0	9011	1145	40	1	1771	1	LRFN5	14	42360832	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	9798886	42360832	64988708	75	3889											
CDC42BPB	9578	broad.mit.edu	37	chr14	103440447	103440447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgctcttggcgaagcGccactgtgtcctcaagctgt	6	10	10	15	3	3	0	2	0	1	0	4	1	4	0	3	1	2	2	3	1	2	1	rs149124468		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:103440447G>A	uc001ymi.1	-	11	1779	c.1547C>T	c.(1546-1548)gCg>gTg	p.A516V		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	516					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGCGAAGCGCCACTGTGTC	0.537													A	103440447	G	A	103440447	3	1	60	1	0	0	0	0	1	0	0	0	3103	1087	38	1	3692	1	CDC42BPB	14	103440447	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	61079615	103440447	3909093	76	3890											
AHNAK2	113146	broad.mit.edu	37	chr14	105409046	105409046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtcatcacatccgccttggGgcctttcaggtccagcttgg	5	11	12	13	1	3	0	3	0	0	0	5	0	5	0	4	5	1	1	4	5	0	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr14:105409046G>A	uc010axc.1	-	6	12862	c.12742C>T	c.(12742-12744)Ccc>Tcc	p.P4248S	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4148S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4248						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGCCTTGGGGCCTTTCAGG	0.647													A	105409046	G	A	105409046	3	1	60	1	0	0	0	0	1	0	0	0	415	1232	43	2	4649	2	AHNAK2	14	105409046	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08	1968599	105409046	1940494	77	3891											
OR4N4	283694	broad.mit.edu	37	chr15	22383070	22383070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtggtggagcttctaatgGtcttcaacagtggcctgatg	7	14	13	7	0	3	1	1	1	2	0	3	2	3	2	1	4	2	1	1	4	2	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:22383070G>A	uc001yuc.1	+	6	1579	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	abParts_uc001yuj.2_Intron|OR4N4_uc001yub.1_Intron|OR4N4_uc010tzv.2_Missense_Mutation_p.V200I	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GCTTCTAATGGTCTTCAACAG	0.522													A	22383070	G	A	22383070	3	1	60	1	0	0	0	0	1	0	0	0	11154	1261	44	2	600	2	OR4N4	15	22383070	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		22383070	80148322	78	3892											
SYNM	23336	broad.mit.edu	37	chr15	99672043	99672043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggaggtgacctaagtCaggcagcgagcccgaccgga	9	4	17	11	4	1	1	1	1	0	0	1	5	1	3	3	4	3	1	3	4	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr15:99672043C>A	uc002bup.3	+	4	3595	c.3475C>A	c.(3475-3477)Cag>Aag	p.Q1159K	SYNM_uc002buo.3_Intron|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	1160	Interaction with TLN1 and VCL.|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						TGACCTAAGTCAGGCAGCGAG	0.587													A	99672043	C	A	99672043	3	1	60	1	0	0	0	0	1	0	0	0	15552	827	29	4	3491	4	SYNM	15	99672043	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	77288973	99672043	2859349	79	3893											
ERN2	10595	broad.mit.edu	37	chr16	23718180	23718180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaggcatcctgcttccGgcctgtggaggtggaaagtg	9	8	14	10	1	0	0	0	0	0	0	2	2	2	2	4	5	2	2	4	5	2	1	rs148177655	byFrequency	TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr16:23718180G>A	uc002dma.4	-	5	695	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	ERN2_uc010bxp.3_Missense_Mutation_p.R176W|ERN2_uc010bxq.1_5'UTR	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	128					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TCCTGCTTCCGGCCTGTGGAG	0.592													A	23718180	G	A	23718180	3	1	60	1	0	0	0	0	1	0	0	0	5279	1115	39	1	2466	1	ERN2	16	23718180	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		23718180	66636573	80	3894											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:7578394T>C	uc002gim.2	-	4	730	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_uc002gig.1_Missense_Mutation_p.H179R|TP53_uc002gih.3_Missense_Mutation_p.H179R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47R|TP53_uc010cnf.1_Missense_Mutation_p.H47R|TP53_uc002gii.1_Missense_Mutation_p.H47R|TP53_uc010cni.1_Missense_Mutation_p.H179R|TP53_uc010cnh.1_Missense_Mutation_p.H179R|TP53_uc002gij.2_Missense_Mutation_p.H179R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86R|TP53_uc002gio.2_Missense_Mutation_p.H47R|TP53_uc010vug.2_Missense_Mutation_p.H140R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(214)|p.H179Y(90)|p.H179L(78)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H179N(14)|p.H179D(11)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H179P(6)|p.H178fs*3(6)|p.H178P(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H47L(4)|p.H86L(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179H(2)|p.P177fs*3(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H86R(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.H47R(2)|p.R174fs*1(2)|p.H178H(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.H179fs*?(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.H179del(1)|p.H178L(1)|p.R175_H178>X(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.H178_H179>QY(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	60	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08		7578394	73616816	81	3895											
ZNF286B	729288	broad.mit.edu	37	chr17	18566092	18566093	+	Frame_Shift_Ins	INS	-	-	T																															caatcattacatttatgaggINSttttttctctttataagttc																										TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr17:18566092_18566093insT	uc010vyd.1	-	4	977_978	c.726_727insA	c.(724-729)aaacctfs	p.K242fs		NM_001145045	NP_001138517	P0CG31	Z286B_HUMAN	Homo sapiens zinc finger protein 286B (ZNF286B), mRNA.	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						CATTTATGAGGTTTTTTCTCTT	0.366													T	18566093	-	T	18566092	7	5	60	1	0	1	1	0	0	0	0	0	17925	1261	44	0	845	0	ZNF286B	17	18566092	Frame_Shift_Ins	INS	-	TCGA-06-0744-01A-01W-0348-08	10987698	18566092	62629118	82	3896											
LAMA1	284217	broad.mit.edu	37	chr18	7037694	7037694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagtgcatcttgctgagaCgggatcttcctgggactgat	7	12	12	10	1	2	2	0	2	2	1	3	5	3	4	2	2	2	2	2	2	1	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:7037694C>T	uc002knm.3	-	11	1714	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	LAMA1_uc010wzj.2_Silent_p.P16P	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	540	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.I539M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGCTGAGACGGGATCTTCC	0.507													T	7037694	C	T	7037694	2	4	60	1	0	0	0	0	0	0	0	1	8664	523	19	1		1	LAMA1	18	7037694	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08		7037694	71039554	83	3897											
SIGLEC15	284266	broad.mit.edu	37	chr18	43418924	43418924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacagcctgggccgctcCgaggccagcgtctacctgtt	6	7	12	16	3	1	0	0	0	1	0	2	1	2	0	6	2	4	2	6	2	2	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:43418924C>T	uc002lbl.1	+	3	887	c.738C>T	c.(736-738)tcC>tcT	p.S246S	SIGLEC15_uc010xcp.1_Non-coding_Transcript	NM_213602	NP_998767	Q6ZMC9	SIG15_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 15 (SIGLEC15), mRNA.	246	Ig-like C2-type.					integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						TGGGCCGCTCCGAGGCCAGCG	0.711													T	43418924	C	T	43418924	2	4	60	1	0	0	0	0	0	0	0	1	14404	639	23	1		1	SIGLEC15	18	43418924	Silent	SNP	C	TCGA-06-0744-01A-01W-0348-08	36381230	43418924	34658324	84	3898											
HDHD2	84064	broad.mit.edu	37	chr18	44635107	44635110	+	Frame_Shift_Del	DEL	TAAG	TAAG	-																															tgagggaaactctcacaagtTaagtaaggaggtggattaat																										TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:44635107_44635110delTAAG	uc002lcs.3	-	6	856_859	c.723_726delCTTA	c.(721-726)tacttafs	p.Y241fs	HDHD2_uc002lct.3_Frame_Shift_Del_p.Y151fs	NM_032124	NP_115500	Q9H0R4	HDHD2_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 2 (HDHD2), mRNA.	241							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TCTCACAAGTTAAGTAAGGAGGTG	0.407													-	44635110	TAAG	-	44635107	7	5	60	1	0	1	0	1	0	0	0	0	7078	1751	61	0	57	0	HDHD2	18	44635107	Frame_Shift_Del	DEL	TAAG	TCGA-06-0744-01A-01W-0348-08	1216183	44635107	33442141	85	3899											
SERPINB3	6318	broad.mit.edu	37	chr18	61307011	61307011	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataggtttttaattttttCtgcaagggaaagaataaaag	17	14	8	2	0	1	1	0	0	1	1	1	2	1	2	0	2	1	2	0	2	8	8			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr18:61307011C>T	uc002ljf.3	-	6	556	c.470_splice	c.e6-1	p.E157_splice	SERPINB3_uc002lje.3_Splice_Site_p.E157_splice|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	157					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TTAATTTTTTCTGCAAGGGAA	0.373													T	61307011	C	T	61307011	5	4	60	1	0	0	0	0	0	0	1	0	14195	927	32	2		2	SERPINB3	18	61307011	Splice_Site	SNP	C	TCGA-06-0744-01A-01W-0348-08	16671904	61307011	16770237	86	3900											
ZNF493	284443	broad.mit.edu	37	chr19	21606942	21606942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctacaaatgtgaagaatGtggcaaagcttttaaccaat	16	10	7	8	0	0	2	0	1	0	1	0	2	0	2	2	1	3	2	2	1	7	3			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:21606942G>A	uc002npw.3	+	3	1600	c.1481G>A	c.(1480-1482)tGt>tAt	p.C494Y	ZNF493_uc002npx.3_Missense_Mutation_p.C366Y|ZNF493_uc002npy.3_Missense_Mutation_p.C366Y|ZNF493_uc021urq.1_Missense_Mutation_p.C366Y	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TGTGAAGAATGTGGCAAAGCT	0.328													A	21606942	G	A	21606942	3	1	60	1	0	0	0	0	1	0	0	0	18045	1377	48	2	1558	2	ZNF493	19	21606942	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		21606942	37522041	87	3901											
ZNF99	7652	broad.mit.edu	37	chr19	22941129	22941129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttccagtatgaattatctTatgttttctaagggctgaga	10	17	8	6	0	2	2	0	2	2	1	3	3	3	2	1	1	0	3	1	1	5	7			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941129T>G	uc021urt.1	-	3	1737	c.1582A>C	c.(1582-1584)Aag>Cag	p.K528Q		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.333													G	22941129	T	G	22941129	3	3	60	1	0	0	0	0	1	0	0	0	18303	1763	61	5	1815	5	ZNF99	19	22941129	Missense_Mutation	SNP	T	TCGA-06-0744-01A-01W-0348-08	1334187	22941129	36187854	88	3902			1	10		2	2	26	N	T_C	7.752457e-05
ZNF99	7652	broad.mit.edu	37	chr19	22941154	22941154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctaagggctgagaaatgCttaaaagctttgccacattc	12	13	8	8	0	1	1	0	1	1	1	2	2	1	1	1	1	3	3	1	1	4	5			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:22941154C>G	uc021urt.1	-	3	1712	c.1557G>C	c.(1555-1557)aaG>aaC	p.K519N		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.									p.R518T(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				CTGAGAAATGCTTAAAAGCTT	0.353													G	22941154	C	G	22941154	3	3	60	1	0	0	0	0	1	0	0	0	18303	796	28	4	1840	4	ZNF99	19	22941154	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	25	22941154	36187829	89	3903			1	10		2	2	26	N	T_C	7.752457e-05
CCDC8	83987	broad.mit.edu	37	chr19	46914965	46914965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctggggcctctgccCtctgattatctgcagcctct	4	12	11	14	0	5	1	1	1	4	0	5	1	5	1	3	3	4	2	3	3	1	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:46914965C>T	uc002pep.3	-	0	1955	c.1103G>A	c.(1102-1104)aGg>aAg	p.R368K		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	368						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GGCCTCTGCCCTCTGATTATC	0.612													T	46914965	C	T	46914965	3	4	60	1	0	0	0	0	1	0	0	0	2881	681	24	2	517	2	CCDC8	19	46914965	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	23973811	46914965	12214018	90	3904											
A1BG	1	broad.mit.edu	37	chr19	58863692	58863692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggctcagagagggcGccttccccatcggtccggta	5	7	15	14	4	1	1	1	0	0	1	4	2	3	1	4	4	0	3	4	4	1	2	rs138577019		TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr19:58863692G>A	uc002qsd.4	-	3	632	c.570C>T	c.(568-570)ggC>ggT	p.G190G	A1BG-AS1_uc002qse.3_Intron|A1BG_uc002qsf.2_Non-coding_Transcript|A1BG-AS1_uc002qsg.3_Non-coding_Transcript	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	190	Ig-like V-type 2.					extracellular region		p.G190G(2)		NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CAGAGAGGGCGCCTTCCCCAT	0.622													A	58863692	G	A	58863692	2	1	60	1	0	0	0	0	0	0	0	1	1	1074	38	1		1	A1BG	19	58863692	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08	11948727	58863692	265291	91	3905											
VPS16	64601	broad.mit.edu	37	chr20	2846921	2846921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaagtatgcttcccgcGtgggtcccgagcagaaggtc	9	7	13	12	3	0	2	0	0	0	2	3	3	2	2	3	2	2	3	3	2	4	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:2846921G>A	uc002whe.3	+	22	2383	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	PTPRA_uc002whj.3_Intron|VPS16_uc002whf.3_Missense_Mutation_p.V635M|VPS16_uc002whg.3_Missense_Mutation_p.V465M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	779					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGCTTCCCGCGTGGGTCCCGA	0.552													A	2846921	G	A	2846921	3	1	60	1	0	0	0	0	1	0	0	0	17295	1145	40	1	2425	1	VPS16	20	2846921	Missense_Mutation	SNP	G	TCGA-06-0744-01A-01W-0348-08		2846921	60178599	92	3906											
RALGAPA2	57186	broad.mit.edu	37	chr20	20475882	20475882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctctggagtgttcagacCagacgatatggacctcgtca	10	10	11	10	2	3	2	2	0	1	2	5	5	3	4	2	2	0	1	2	2	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:20475882C>A	uc002wrz.3	-	35	5389	c.5246G>T	c.(5245-5247)tGg>tTg	p.W1749L	RALGAPA2_uc002wry.3_Missense_Mutation_p.W1364L|RALGAPA2_uc010zsg.2_Missense_Mutation_p.W1197L|RALGAPA2_uc002wsa.1_Missense_Mutation_p.W521L	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1749	Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						GTGTTCAGACCAGACGATATG	0.438													A	20475882	C	A	20475882	3	1	60	1	0	0	0	0	1	0	0	0	13102	595	21	4	391	4	RALGAPA2	20	20475882	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	17628961	20475882	42549638	93	3907											
CHRNA4	1137	broad.mit.edu	37	chr20	61978100	61978100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtcccttcctagatcatgCcagccagccagggcggcagg	7	6	13	15	2	1	1	1	0	0	1	3	1	3	1	5	4	3	1	5	4	1	2			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr20:61978100C>T	uc002yes.2	-	5	2052	c.1874G>A	c.(1873-1875)gGc>gAc	p.G625D	CHRNA4_uc002yet.1_Missense_Mutation_p.G449D|CHRNA4_uc010gke.1_Missense_Mutation_p.G554D|CHRNA4_uc002yev.1_Missense_Mutation_p.G449D|CHRNA4_uc010gkf.1_Missense_Mutation_p.G449D	NM_000744	NP_000735	P43681	ACHA4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 4 (CHRNA4), mRNA.	625					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTAGATCATGCCAGCCAGCCA	0.677													T	61978100	C	T	61978100	3	4	60	1	0	0	0	0	1	0	0	0	3415	739	26	2	13	2	CHRNA4	20	61978100	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08	41502218	61978100	1047420	94	3908											
RFPL2	10739	broad.mit.edu	37	chr22	32589175	32589175	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaagagtgcagccatGtccactgccaggggaaaagt	11	8	13	9	0	1	1	0	0	1	1	2	3	2	3	3	3	3	1	3	3	3	1			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chr22:32589175G>A	uc003amg.3	-	3	1206	c.270C>T	c.(268-270)gaC>gaT	p.D90D	RFPL2_uc003ame.3_Silent_p.D29D|RFPL2_uc003amf.3_5'UTR|RFPL2_uc003amh.3_5'UTR	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	90							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						GTGCAGCCATGTCCACTGCCA	0.478													A	32589175	G	A	32589175	2	1	60	1	0	0	0	0	0	0	0	1	13342	1368	48	2		2	RFPL2	22	32589175	Silent	SNP	G	TCGA-06-0744-01A-01W-0348-08		32589175	18715391	95	3909											
CXorf57	55086	broad.mit.edu	37	chrX	105881005	105881005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtcatagaggccagcCgtatacgtatgatgccaagg	12	7	14	8	2	1	2	1	1	0	1	1	3	1	3	3	4	3	2	3	4	5	4			TCGA-06-0744-01A-01W-0348-08	TCGA-06-0744-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d80afd62-48a6-4da4-8026-e6384e86cf62	ac87a0e4-84c8-4202-9405-43461e1b7e66	g.chrX:105881005C>T	uc004emi.4	+	7	1575	c.1424C>T	c.(1423-1425)cCg>cTg	p.P475L	CXorf57_uc004emj.4_Missense_Mutation_p.P475L|CXorf57_uc004emh.2_Missense_Mutation_p.P475L|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	475										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AGAGGCCAGCCGTATACGTAT	0.368													T	105881005	C	T	105881005	3	4	60	1	0	0	0	0	1	0	0	0	4146	652	23	1	1454	1	CXorf57	23	105881005	Missense_Mutation	SNP	C	TCGA-06-0744-01A-01W-0348-08		105881005	49389555	96	3910											
PTCHD2	57540	broad.mit.edu	37	chr1	11596726	11596726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctataagattcccctgcccGcaggggcctccctatagccc	7	8	9	17	1	0	1	0	0	0	1	2	1	2	1	6	2	2	2	6	2	4	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:11596726G>T	uc001ash.4	+	20	4300	c.4162G>T	c.(4162-4164)Gca>Tca	p.A1388S		NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	1388					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-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)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		TCCCCTGCCCGCAGGGGCCTC	0.662													T	11596726	G	T	11596726	3	4	61	1	0	0	0	0	1	0	0	0	12818	1087	38	4	4240	4	PTCHD2	1	11596726	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		11596726	237653895	1	3911											
RYR2	6262	broad.mit.edu	37	chr1	237948008	237948008	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgcagaactgttagcCaacatgccagaccccactca	14	7	7	13	0	1	2	1	0	0	2	1	2	1	2	4	0	5	3	4	0	4	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:237948008C>G	uc001hyl.1	+	89	13116	c.12996C>G	c.(12994-12996)gcC>gcG	p.A4332A	RYR2_uc010pya.2_Silent_p.A747A	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4332					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.M4332I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AACTGTTAGCCAACATGCCAG	0.557													G	237948008	C	G	237948008	2	3	61	1	0	0	0	0	0	0	0	1	13860	581	21	4		4	RYR2	1	237948008	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	226351282	237948008	11302613	2	3912											
SMYD3	64754	broad.mit.edu	37	chr1	246027126	246027126	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgccttcagttcttcaatTtttttcagggattcttgaac	7	19	7	8	0	5	1	3	1	2	0	5	2	5	2	1	1	2	1	1	1	2	8			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr1:246027126T>G	uc001ibl.3	-	8	1001	c.876A>C	c.(874-876)aaA>aaC	p.K292N	SMYD3_uc001ibk.3_Missense_Mutation_p.K233N|SMYD3_uc001ibj.3_Missense_Mutation_p.K103N	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	292						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GTTCTTCAATTTTTTTCAGGG	0.423													G	246027126	T	G	246027126	3	3	61	1	0	0	0	0	1	0	0	0	14917	1838	64	5	426	5	SMYD3	1	246027126	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	8079118	246027126	3223495	3	3913											
MYT1L	23040	broad.mit.edu	37	chr2	1812887	1812887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcagcatctgctctcCagaaagctttgccttcttca	8	13	8	12	0	5	1	2	0	3	1	6	2	5	1	2	1	4	3	2	1	1	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:1812887C>T	uc002qxe.3	-	21	3960	c.3133G>A	c.(3133-3135)Gga>Aga	p.G1045R	MYT1L_uc002qxd.3_Missense_Mutation_p.G1043R|MYT1L_uc010ewk.3_Missense_Mutation_p.G41R	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	1045					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ATCTGCTCTCCAGAAAGCTTT	0.592													T	1812887	C	T	1812887	3	4	61	1	0	0	0	0	1	0	0	0	10183	603	21	2	443	2	MYT1L	2	1812887	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		1812887	241386486	4	3914											
LCT	3938	broad.mit.edu	37	chr2	136570155	136570155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaggtgttttgtggggcGttgctgatgaggcgggaggt	5	12	20	4	2	0	2	0	2	0	0	0	3	0	3	0	6	2	4	0	6	0	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr2:136570155G>A	uc002tuu.1	-	6	2090	c.2079C>T	c.(2077-2079)aaC>aaT	p.N693N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	693	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTGTGGGGCGTTGCTGATGA	0.547													A	136570155	G	A	136570155	2	1	61	1	0	0	0	0	0	0	0	1	8752	1136	40	1		1	LCT	2	136570155	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	134757268	136570155	106629218	5	3915											
OR5K4	403278	broad.mit.edu	37	chr3	98072858	98072858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatttatgtagagcgtcGtcttctcacaccaatgtaca	12	14	6	9	2	2	1	1	0	2	1	4	1	2	1	1	0	2	2	1	0	5	6			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:98072858G>A	uc011bgv.2	+	0	161	c.161G>A	c.(160-162)cGt>cAt	p.R54H		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GTAGAGCGTCGTCTTCTCACA	0.473													A	98072858	G	A	98072858	3	1	61	1	0	0	0	0	1	0	0	0	11245	1145	40	1	163	1	OR5K4	3	98072858	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		98072858	99949572	6	3916											
FSTL1	11167	broad.mit.edu	37	chr3	120122088	120122088	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttaggttaggcataCtcttctcaggagggttgaaa	10	15	10	6	0	3	1	1	1	3	0	4	2	3	2	0	4	1	3	0	4	5	7			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr3:120122088C>T	uc003eds.3	-	8	869	c.694_splice	c.e8+1	p.K232_splice	FSTL1_uc011bjh.2_Splice_Site_p.K197_splice	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	232					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GTTAGGCATACTCTTCTCAGG	0.443													T	120122088	C	T	120122088	5	4	61	1	0	0	0	0	0	0	1	0	6129	579	20	2	247	2	FSTL1	3	120122088	Splice_Site	SNP	C	TCGA-06-0745-01A-01W-0348-08	22049230	120122088	77900342	7	3917											
CSN1S1	1446	broad.mit.edu	37	chr4	70810645	70810645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatcatgcagtatgttccTttcccaccgttttccgacat	9	14	5	13	2	1	0	1	0	0	0	4	1	4	0	4	0	1	4	4	0	2	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:70810645T>C	uc003hep.1	+	14	529	c.480T>C	c.(478-480)ccT>ccC	p.P160P	CSN1S1_uc003heq.1_Silent_p.P151P|CSN1S1_uc003her.1_Silent_p.P152P	NM_001890	NP_001881	P47710	CASA1_HUMAN	Homo sapiens casein alpha s1 (CSN1S1), transcript variant 1, mRNA.	160						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						AGTATGTTCCTTTCCCACCGT	0.403													C	70810645	T	C	70810645	2	2	61	1	0	0	0	0	0	0	0	1	3980	1596	56	3		3	CSN1S1	4	70810645	Silent	SNP	T	TCGA-06-0745-01A-01W-0348-08		70810645	120343631	8	3918											
SEC31A	22872	broad.mit.edu	37	chr4	83785658	83785658	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttttctgttacaacctGactaatgaacacatggtgct	10	14	6	11	0	1	2	0	2	1	0	2	2	2	2	2	1	4	2	2	1	4	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr4:83785658G>A	uc003hnh.3	-	10	1471	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*	SEC31A_uc003hne.3_Nonsense_Mutation_p.Q203*|SEC31A_uc011ccl.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnl.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hng.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccm.2_Nonsense_Mutation_p.Q426*|SEC31A_uc003hni.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnk.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnf.3_Nonsense_Mutation_p.Q431*|SEC31A_uc011ccn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnm.3_Nonsense_Mutation_p.Q431*|SEC31A_uc003hnn.2_Nonsense_Mutation_p.Q431*|SEC31A_uc003hno.3_Nonsense_Mutation_p.Q431*	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	431	Interaction with SEC13.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTTACAACCTGACTAATGAAC	0.438													A	83785658	G	A	83785658	4	1	61	1	0	0	0	0	0	1	0	0	14091	1299	45	2	2439	2	SEC31A	4	83785658	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	12975013	83785658	107368618	9	3919											
MAST4	375449	broad.mit.edu	37	chr5	66416900	66416900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgggaaagtgattttgaaaCgattaaattgattagcaatg	15	13	10	3	2	0	3	0	3	0	0	1	5	0	4	0	1	2	1	0	1	6	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:66416900C>T	uc021xzk.1	+	13	2023	c.1715C>T	c.(1714-1716)aCg>aTg	p.T572M	MAST4_uc003jut.2_Missense_Mutation_p.T383M|MAST4_uc003juu.1_Missense_Mutation_p.T393M|MAST4_uc011cra.1_Missense_Mutation_p.T366M|MAST4_uc003juv.2_Missense_Mutation_p.T378M|MAST4_uc003juw.3_Missense_Mutation_p.T378M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	575						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATTTTGAAACGATTAAATTG	0.328													T	66416900	C	T	66416900	3	4	61	1	0	0	0	0	1	0	0	0	9402	536	19	1	1899	1	MAST4	5	66416900	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		66416900	114498360	10	3920											
GPR98	84059	broad.mit.edu	37	chr5	89981650	89981650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactattgcgcaactaattAtcattgccaatgatgatgca	15	12	6	8	1	1	2	1	2	0	0	1	2	1	2	1	0	5	2	1	0	6	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:89981650A>G	uc003kju.3	+	28	6424	c.6328A>G	c.(6328-6330)Atc>Gtc	p.I2110V	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2110					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GCAACTAATTATCATTGCCAA	0.413													G	89981650	A	G	89981650	3	3	61	1	0	0	0	0	1	0	0	0	6776	449	16	3	6442	3	GPR98	5	89981650	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08	23564750	89981650	90933610	11	3921											
PCDHB3	56132	broad.mit.edu	37	chr5	140481632	140481632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgagaacaacagccccGccctgcacatcggcagtgtc	9	5	10	17	4	0	1	0	0	0	1	3	2	1	1	4	1	4	2	4	1	2	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140481632G>A	uc003lio.3	+	0	1399	c.1399G>A	c.(1399-1401)Gcc>Acc	p.A467T	BC016751_uc003lin.3_Intron	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	467	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.P466H(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACAGCCCCGCCCTGCACAT	0.622													A	140481632	G	A	140481632	3	1	61	1	0	0	0	0	1	0	0	0	11619	1087	38	1	1401	1	PCDHB3	5	140481632	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	50499982	140481632	40433628	12	3922											
PCDHB13	56123	broad.mit.edu	37	chr5	140595599	140595599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgagcgagcgcgacgCggccaagcacaggctggtgg	7	4	18	12	5	0	1	0	1	0	0	0	3	0	1	1	4	4	4	1	4	1	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr5:140595599C>T	uc003lja.1	+	0	2091	c.1904C>T	c.(1903-1905)gCg>gTg	p.A635V		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	635	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGCGCGACGCGGCCAAGCAC	0.692													T	140595599	C	T	140595599	3	4	61	1	0	0	0	0	1	0	0	0	11614	768	27	1	1906	1	PCDHB13	5	140595599	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	113967	140595599	40319661	13	3923											
SNX9	51429	broad.mit.edu	37	chr6	158342573	158342573	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcttgcaggccgctttgaAgaggaatttatcaaaatgcg	11	11	11	8	3	1	2	1	1	0	1	2	3	1	3	1	2	2	3	1	2	5	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr6:158342573A>T	uc003qqv.1	+	9	1133	c.960A>T	c.(958-960)gaA>gaT	p.E320D		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	320	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GCCGCTTTGAAGAGGAATTTA	0.423													T	158342573	A	T	158342573	3	4	61	1	0	0	0	0	1	0	0	0	15003	69	3	5	998	5	SNX9	6	158342573	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		158342573	12772494	14	3924											
FTSJ2	29960	broad.mit.edu	37	chr7	2281798	2281798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcagcgcccagctcaccCcgccattggtgttccccgcg	5	6	11	19	4	1	0	1	0	0	0	2	0	2	0	6	1	3	4	6	1	0	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:2281798C>T	uc003slm.3	-	1	37	c.8_splice	c.e1+1	p.G3_splice	FTSJ2_uc003sln.3_Splice_Site|FTSJ2_uc003slo.3_Splice_Site|NUDT1_uc003slp.1_5'Flank|NUDT1_uc003slq.1_5'Flank|NUDT1_uc003slr.1_5'Flank|NUDT1_uc003sls.1_5'Flank|NUDT1_uc003slt.1_5'Flank|NUDT1_uc003slu.1_5'Flank|NUDT1_uc003slv.1_5'Flank	NM_013393	NP_037525	Q9UI43	RRMJ2_HUMAN	Homo sapiens FtsJ homolog 2 (E. coli) (FTSJ2), mRNA.	3					cell proliferation	mitochondrion|nucleolus	nucleic acid binding|rRNA (uridine-2'-O-)-methyltransferase activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0822)|OV - Ovarian serous cystadenocarcinoma(56;2.7e-14)		CCAGCTCACCCCGCCATTGGT	0.736													T	2281798	C	T	2281798	3	4	61	1	0	0	0	0	1	0	0	0	6140	637	22	2	745	2	FTSJ2	7	2281798	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		2281798	156856865	15	3925											
COL28A1	340267	broad.mit.edu	37	chr7	7412882	7412882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcatcttcaaacatgtcGttggctgcttgcagagcagt	8	13	10	10	1	2	1	1	0	1	1	3	1	2	1	0	1	5	6	0	1	1	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:7412882G>A	uc003src.1	-	31	2772	c.2655C>T	c.(2653-2655)aaC>aaT	p.N885N	COL28A1_uc011jxe.1_Silent_p.N568N	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	885	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CAAACATGTCGTTGGCTGCTT	0.488													A	7412882	G	A	7412882	2	1	61	1	0	0	0	0	0	0	0	1	3717	1136	40	1		1	COL28A1	7	7412882	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	5131084	7412882	151725781	16	3926											
ABCB1	5243	broad.mit.edu	37	chr7	87190619	87190619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctccaaatgcaatcacagTtctaattgctgccaagacct	12	11	5	13	0	2	1	1	0	1	1	4	1	4	1	4	0	3	3	4	0	4	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:87190619T>A	uc003uiz.2	-	8	1280	c.787A>T	c.(787-789)Act>Tct	p.T263S	ABCB1_uc011khc.2_Missense_Mutation_p.T199S	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	263	ABC transmembrane type-1 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)	GCAATCACAGTTCTAATTGCT	0.343													A	87190619	T	A	87190619	3	1	61	1	0	0	0	0	1	0	0	0	40	1725	60	5	3139	5	ABCB1	7	87190619	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	79777737	87190619	71948044	17	3927											
DLD	1738	broad.mit.edu	37	chr7	107557761	107557761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctggtccaatgctggctCacaaagcagaggatgaaggc	11	8	13	9	0	1	2	1	1	0	1	2	3	2	3	1	4	3	4	1	4	3	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:107557761C>T	uc003vet.3	+	10	1200	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y	DLD_uc011kmg.2_Missense_Mutation_p.H316Y|DLD_uc011kmh.2_Missense_Mutation_p.H341Y|DLD_uc011kmi.2_Missense_Mutation_p.H265Y	NM_000108	NP_000099	P09622	DLDH_HUMAN	Homo sapiens dihydrolipoamide dehydrogenase (DLD), mRNA.	364					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AATGCTGGCTCACAAAGCAGA	0.428													T	107557761	C	T	107557761	3	4	61	1	0	0	0	0	1	0	0	0	4590	826	29	2	1132	2	DLD	7	107557761	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	20367142	107557761	51580902	18	3928											
TFEC	22797	broad.mit.edu	37	chr7	115582025	115582025	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattctcgggctctctgttgTtctttttgtagccacttgat	5	19	8	9	1	3	1	0	1	3	0	5	1	3	1	1	1	1	4	1	1	2	7			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr7:115582025T>C	uc003vhj.2	-	6	838	c.585A>G	c.(583-585)gaA>gaG	p.E195E	TFEC_uc003vhm.2_Silent_p.E128E|TFEC_uc003vhk.2_Silent_p.E166E|TFEC_uc003vhl.4_Silent_p.E166E|TFEC_uc011kmw.2_Silent_p.E285E	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	195						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			CTCTCTGTTGTTCTTTTTGTA	0.408													C	115582025	T	C	115582025	2	2	61	1	0	0	0	0	0	0	0	1	15902	1722	60	3		3	TFEC	7	115582025	Silent	SNP	T	TCGA-06-0745-01A-01W-0348-08	8024264	115582025	43556638	19	3929											
MYOM2	9172	broad.mit.edu	37	chr8	2092880	2092880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccaagctcatccccgCgtctgcctcagcggcaggcc	7	5	10	19	3	3	0	2	0	1	0	4	0	4	0	5	2	4	2	5	2	2	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:2092880C>T	uc003wpx.4	+	36	4511	c.4373C>T	c.(4372-4374)gCg>gTg	p.A1458V	MYOM2_uc011kwi.2_Missense_Mutation_p.A883V	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	1458					muscle contraction	myosin filament	structural constituent of muscle	p.P1457P(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTCATCCCCGCGTCTGCCTCA	0.587													T	2092880	C	T	2092880	3	4	61	1	0	0	0	0	1	0	0	0	10168	768	27	1	4515	1	MYOM2	8	2092880	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		2092880	144271142	20	3930											
RB1CC1	9821	broad.mit.edu	37	chr8	53573548	53573548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catataatctctttccatctTtgactaaagcaccagcccac	12	12	3	14	0	2	1	0	1	2	0	4	1	3	1	3	0	2	1	3	0	4	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:53573548T>C	uc003xre.4	-	10	2123	c.1565A>G	c.(1564-1566)aAa>aGa	p.K522R	RB1CC1_uc003xrf.4_Missense_Mutation_p.K522R	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	522					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding	p.K522K(1)		NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTTTCCATCTTTGACTAAAGC	0.284													C	53573548	T	C	53573548	3	2	61	1	0	0	0	0	1	0	0	0	13187	1841	64	3	3275	3	RB1CC1	8	53573548	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	51480668	53573548	92790474	21	3931											
C8orf34	116328	broad.mit.edu	37	chr8	69381052	69381052	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcccttgagaatctctctCgaagtaagttcatttacttg	11	14	7	9	1	3	1	1	1	2	1	5	3	3	1	1	0	2	2	1	0	5	6			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:69381052C>T	uc010lyz.3	+	3	1024	c.733C>T	c.(733-735)Cga>Tga	p.R245*	C8orf34_uc010lyy.2_Nonsense_Mutation_p.R245*|C8orf34_uc003xyb.3_Nonsense_Mutation_p.R134*	NM_052958	NP_443190	Q49A92	CH034_HUMAN	Homo sapiens chromosome 8 open reading frame 34 (C8orf34), transcript variant 1, mRNA.	159					signal transduction		cAMP-dependent protein kinase regulator activity	p.E245Q(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GAATCTCTCTCGAAGTAAGTT	0.393													T	69381052	C	T	69381052	4	4	61	1	0	0	0	0	0	1	0	0	2447	876	31	1	410	1	C8orf34	8	69381052	Nonsense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	15807504	69381052	76982970	22	3932											
FAM135B	51059	broad.mit.edu	37	chr8	139164211	139164211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggccctgctggttgtcaGcatctaaaactatctccacc	8	10	9	14	1	3	0	1	0	2	0	4	0	3	0	3	3	3	3	3	3	3	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr8:139164211G>C	uc003yuy.3	-	12	2678	c.2507C>G	c.(2506-2508)gCt>gGt	p.A836G	FAM135B_uc003yux.3_Missense_Mutation_p.A737G|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Missense_Mutation_p.A398G|FAM135B_uc003yvb.3_Missense_Mutation_p.A398G	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	836										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGGTTGTCAGCATCTAAAAC	0.522										HNSCC(54;0.14)			C	139164211	G	C	139164211	3	2	61	1	0	0	0	0	1	0	0	0	5494	971	34	4	1745	4	FAM135B	8	139164211	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	69783159	139164211	7199811	23	3933											
FAM120A	23196	broad.mit.edu	37	chr9	96294445	96294445	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgcaaagggtgaaatCaaaattgctgtttctattga	13	14	8	6	0	2	2	1	2	1	0	3	2	3	2	1	1	2	3	1	1	5	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:96294445C>A	uc004atw.3	+	9	1768	c.1743C>A	c.(1741-1743)atC>atA	p.I581I	FAM120A_uc004atx.3_Silent_p.I363I|FAM120A_uc004aty.3_Silent_p.I362I|FAM120A_uc004atz.3_Silent_p.I230I|FAM120A_uc010mrg.3_5'UTR	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	581						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGGTGAAATCAAAATTGCTG	0.393													A	96294445	C	A	96294445	2	1	61	1	0	0	0	0	0	0	0	1	5460	816	29	4		4	FAM120A	9	96294445	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08		96294445	44918986	24	3934											
QRFP	347148	broad.mit.edu	37	chr9	133768879	133768879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagccattgagctcctcaGccaggttccctaacgggccg	7	9	11	14	2	1	1	1	1	0	0	3	1	3	1	5	2	4	3	5	2	2	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr9:133768879G>A	uc011mcb.2	-	0	347	c.347C>T	c.(346-348)gCt>gTt	p.A116V		NM_198180	NP_937823	P83859	OX26_HUMAN	Homo sapiens pyroglutamylated RFamide peptide (QRFP), mRNA.	116					locomotory behavior|neuropeptide signaling pathway|positive regulation of blood pressure|regulation of feeding behavior	extracellular region	neuropeptide hormone activity|orexigenic neuropeptide QRFP receptor binding			cervix(1)|endometrium(3)|lung(1)|skin(2)	7	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.17e-05)|Epithelial(140;0.000267)		GAGCTCCTCAGCCAGGTTCCC	0.632													A	133768879	G	A	133768879	3	1	61	1	0	0	0	0	1	0	0	0	12965	971	34	2	66	2	QRFP	9	133768879	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	37474434	133768879	7444552	25	3935											
EGR2	1959	broad.mit.edu	37	chr10	64574066	64574066	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactcacaatattgattatgCcttctgggtagcagctggca	10	12	9	10	0	2	1	1	1	1	0	2	1	2	1	1	2	3	4	1	2	4	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:64574066C>G	uc010qio.2	-	2	391	c.371G>C	c.(370-372)gGc>gCc	p.G124A	EGR2_uc010qim.2_Missense_Mutation_p.G111A|EGR2_uc010qin.2_Missense_Mutation_p.G61A|EGR2_uc001jmi.3_Missense_Mutation_p.G111A|EGR2_uc009xph.3_Missense_Mutation_p.G111A	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	111					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					ATTGATTATGCCTTCTGGGTA	0.547													G	64574066	C	G	64574066	3	3	61	1	0	0	0	0	1	0	0	0	5011	739	26	4	1102	4	EGR2	10	64574066	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		64574066	70960681	26	3936											
ATE1	11101	broad.mit.edu	37	chr10	123683779	123683779	+	Splice_Site	DEL	A	A	-																															tctttgtatctggaagctttAccttcgccatcctcggtcta																										TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr10:123683779delA	uc001lfp.3	-	2	252	c.170_splice	c.e2+1	p.R57_splice	ATE1_uc001lfq.3_Splice_Site_p.R57_splice|ATE1_uc010qtr.2_Splice_Site|ATE1_uc010qts.2_Intron|ATE1_uc010qtt.2_Splice_Site_p.R50_splice|ATE1_uc001lfr.3_Splice_Site|ATE1_uc009xzu.3_Intron	NM_007041	NP_008972	O95260	ATE1_HUMAN	Homo sapiens arginyltransferase 1 (ATE1), transcript variant 2, mRNA.	57					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGGAAGCTTTACCTTCGCCAT	0.413													-	123683779	A	-	123683779	8	5	61	1	0	1	0	1	0	0	1	0	1083	405	14	0	1561	0	ATE1	10	123683779	Splice_Site	DEL	A	TCGA-06-0745-01A-01W-0348-08	59109713	123683779	11850968	27	3937											
ART1	417	broad.mit.edu	37	chr11	3681476	3681476	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaggaagaggtgctgAtccccccctttgagaccttc	8	9	12	12	0	0	4	0	2	0	3	2	7	1	5	4	3	1	1	4	3	1	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:3681476A>T	uc001lye.1	+	2	828	c.727A>T	c.(727-729)Atc>Ttc	p.I243F	ART1_uc009yeb.1_Missense_Mutation_p.I243F	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	243					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGAGGTGCTGATCCCCCCCTT	0.607													T	3681476	A	T	3681476	3	4	61	1	0	0	0	0	1	0	0	0	1002	333	12	5	733	5	ART1	11	3681476	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		3681476	131325040	28	3938											
KIF18A	81930	broad.mit.edu	37	chr11	28058009	28058009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaaggttactgtagaCggattttgaaaagcttttct	11	17	8	5	1	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	5	8			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:28058009C>T	uc001msc.2	-	13	2333	c.2151G>A	c.(2149-2151)ccG>ccA	p.P717P		NM_031217	NP_112494	Q8NI77	KI18A_HUMAN	Homo sapiens kinesin family member 18A (KIF18A), mRNA.	717					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding	p.N716Y(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						TTACTGTAGACGGATTTTGAA	0.363													T	28058009	C	T	28058009	2	4	61	1	0	0	0	0	0	0	0	1	8338	523	19	1		1	KIF18A	11	28058009	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	24376533	28058009	106948507	29	3939											
AHNAK	79026	broad.mit.edu	37	chr11	62298733	62298733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaggcatcttaaacttcggGcctttcaacttcccttcagg	8	13	7	13	1	4	0	3	0	1	0	6	0	5	0	2	3	2	1	2	3	3	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:62298733G>A	uc001ntl.3	-	4	3456	c.3156C>T	c.(3154-3156)ggC>ggT	p.G1052G	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1052					nervous system development	nucleus	protein binding	p.K1051K(1)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTCGGGCCTTTCAACT	0.443													A	62298733	G	A	62298733	2	1	61	1	0	0	0	0	0	0	0	1	414	1190	42	2		2	AHNAK	11	62298733	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08	34240724	62298733	72707783	30	3940											
OR4D5	219875	broad.mit.edu	37	chr11	123811134	123811134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccccatggacaaggccGtctctgtgctatacacaatt	10	11	7	13	1	1	0	0	0	1	0	3	1	2	1	3	2	2	1	3	2	4	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr11:123811134G>A	uc001pzk.1	+	0	811	c.811G>A	c.(811-813)Gtc>Atc	p.V271I		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V271I(2)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GGACAAGGCCGTCTCTGTGCT	0.493													A	123811134	G	A	123811134	3	1	61	1	0	0	0	0	1	0	0	0	11133	1145	40	1	813	1	OR4D5	11	123811134	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	61512401	123811134	11195382	31	3941											
KCNC2	3747	broad.mit.edu	37	chr12	75601564	75601564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgggggacagcgggggcGctctcggcggcggcgacagt	4	3	21	13	7	1	0	0	0	1	0	2	2	1	1	1	7	1	1	1	7	0	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr12:75601564G>A	uc001sxg.1	-	1	744	c.200C>T	c.(199-201)gCg>gTg	p.A67V	KCNC2_uc009zry.3_Missense_Mutation_p.A67V|KCNC2_uc001sxe.3_Missense_Mutation_p.A67V|KCNC2_uc001sxf.3_Missense_Mutation_p.A67V|KCNC2_uc010stw.1_Missense_Mutation_p.A67V	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	67	Gly/Pro-rich (insert).				energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						cagcgggggcgctctcggcgg	0.771													A	75601564	G	A	75601564	3	1	61	1	0	0	0	0	1	0	0	0	8073	1087	38	1	1798	1	KCNC2	12	75601564	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		75601564	58250331	32	3942											
MYCBP2	23077	broad.mit.edu	37	chr13	77835447	77835447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattggtagctcaacccAttttcctgctgaaggaccac	10	12	8	11	0	1	1	1	1	0	0	2	2	2	2	3	2	3	4	3	2	4	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr13:77835447A>G	uc021rks.1	-	11	1978	c.1711T>C	c.(1711-1713)Tgg>Cgg	p.W571R	MYCBP2_uc010aev.3_5'UTR	NM_015057	NP_055872	O75592	MYCB2_HUMAN	Homo sapiens MYC binding protein 2 (MYCBP2), mRNA.	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		AGCTCAACCCATTTTCCTGCT	0.378													G	77835447	A	G	77835447	3	3	61	1	0	0	0	0	1	0	0	0	10094	217	8	3	12613	3	MYCBP2	13	77835447	Missense_Mutation	SNP	A	TCGA-06-0745-01A-01W-0348-08		77835447	37334431	33	3943											
AKAP6	9472	broad.mit.edu	37	chr14	33290671	33290671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggatgagtgaggatgccctgGaatgggatgaaatggacata	13	8	16	4	0	0	3	0	3	0	0	0	8	0	8	1	5	1	0	1	5	3	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:33290671G>C	uc001wrq.3	+	12	3822	c.3652G>C	c.(3652-3654)Gaa>Caa	p.E1218Q		NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	1218					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGATGCCCTGGAATGGGATGA	0.393													C	33290671	G	C	33290671	3	2	61	1	0	0	0	0	1	0	0	0	455	1175	41	4	3698	4	AKAP6	14	33290671	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		33290671	74058869	34	3944											
SMEK1	55671	broad.mit.edu	37	chr14	91937214	91937214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcatgcttcgaggccataaGaactagcactctccggagga	12	7	11	11	2	1	1	0	0	1	1	3	4	1	3	2	3	4	3	2	3	3	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr14:91937214G>C	uc001xzn.3	-	9	2449	c.1627C>G	c.(1627-1629)Ctt>Gtt	p.L543V	SMEK1_uc001xzm.3_Missense_Mutation_p.L530V|SMEK1_uc001xzo.3_Missense_Mutation_p.L530V|SMEK1_uc010atz.3_Missense_Mutation_p.L304V|SMEK1_uc001xzp.1_Non-coding_Transcript	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	543						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GAGGCCATAAGAACTAGCACT	0.353													C	91937214	G	C	91937214	3	2	61	1	0	0	0	0	1	0	0	0	14887	942	33	4	898	4	SMEK1	14	91937214	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	58646543	91937214	15412326	35	3945											
TRPM1	4308	broad.mit.edu	37	chr15	31294188	31294188	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccatgtaaactttttGacctgagagatgggaatccc	11	12	10	8	0	0	3	0	2	0	1	2	6	2	4	3	1	1	1	3	1	3	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:31294188G>T	uc021sia.1	-	26	5080	c.4766C>A	c.(4765-4767)tCa>tAa	p.S1589*	TRPM1_uc010azy.3_Nonsense_Mutation_p.S1457*|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Nonsense_Mutation_p.S1572*|TRPM1_uc001zfm.3_Nonsense_Mutation_p.S1550*	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1550					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TAAACTTTTTGACCTGAGAGA	0.428													T	31294188	G	T	31294188	4	4	61	1	0	0	0	0	0	1	0	0	16686	1294	45	4	166	4	TRPM1	15	31294188	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		31294188	71237204	36	3946											
SPTBN5	51332	broad.mit.edu	37	chr15	42178160	42178160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggagggctgccttgtgctgGaagcgccgggccagggtttc	4	8	18	11	3	0	0	0	0	0	0	1	2	0	2	3	5	3	3	3	5	1	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr15:42178160G>C	uc001zos.3	-	6	1521	c.1188C>G	c.(1186-1188)ttC>ttG	p.F396L		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	431					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTTGTGCTGGAAGCGCCGGG	0.667													C	42178160	G	C	42178160	3	2	61	1	0	0	0	0	1	0	0	0	15218	1165	41	4	9979	4	SPTBN5	15	42178160	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	10883972	42178160	60353232	37	3947											
OR1F1	4992	broad.mit.edu	37	chr16	3254556	3254556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcacacagatgtatttcGttttcatgttcgtggacatg	8	16	9	8	2	2	1	2	0	1	1	5	2	2	2	0	1	0	3	0	1	1	5	rs141236935		TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:3254556G>A	uc010uwu.2	+	0	310	c.310G>A	c.(310-312)Gtt>Att	p.V104I		NM_012360	NP_036492	O43749	OR1F1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily F, member 1 (OR1F1), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						GATGTATTTCGTTTTCATGTT	0.498													A	3254556	G	A	3254556	3	1	61	1	0	0	0	0	1	0	0	0	11032	1145	40	1	312	1	OR1F1	16	3254556	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		3254556	87100197	38	3948											
CIITA	4261	broad.mit.edu	37	chr16	10992859	10992859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaaagtcagaaaagaCgtgagtgagcccctccctga	14	5	12	10	1	1	6	1	3	0	3	2	6	2	6	3	1	1	1	3	1	4	0			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:10992859C>T	uc002daj.4	+	5	572	c.439_splice	c.e5+1	p.P147_splice	CIITA_uc002dai.4_Splice_Site_p.P146_splice|CIITA_uc002dak.4_Splice_Site_p.P146_splice|CIITA_uc002dag.2_Splice_Site_p.P146_splice|CIITA_uc002dah.2_Splice_Site_p.P147_splice|CIITA_uc010bup.1_Splice_Site_p.P146_splice	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	146					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCAGAAAAGACGTGAGTGAGC	0.512			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								T	10992859	C	T	10992859	3	4	61	1	0	0	0	0	1	0	0	0	3458	550	19	1	454	1	CIITA	16	10992859	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	7738303	10992859	79361894	39	3949											
GTF3C1	2975	broad.mit.edu	37	chr16	27483187	27483187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagctcctcttctggcactCcatgaaggccttcacaagaa	11	9	7	14	0	3	2	1	1	2	1	5	2	5	2	3	2	1	2	3	2	4	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:27483187C>G	uc002dov.2	-	29	4448	c.4408G>C	c.(4408-4410)Gag>Cag	p.E1470Q	GTF3C1_uc002dou.3_Missense_Mutation_p.E1470Q	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1470						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TTCTGGCACTCCATGAAGGCC	0.617													G	27483187	C	G	27483187	3	3	61	1	0	0	0	0	1	0	0	0	6927	864	30	4	1953	4	GTF3C1	16	27483187	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	16490328	27483187	62871566	40	3950											
CHD9	80205	broad.mit.edu	37	chr16	53190481	53190481	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctttgtggcacaccaTgactttgccttatttcaggc	10	13	8	10	0	1	1	1	1	0	0	1	1	1	1	2	2	2	2	2	2	3	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:53190481T>A	uc002ehb.3	+	0	644	c.480T>A	c.(478-480)caT>caA	p.H160Q	CHD9_uc002egy.3_Missense_Mutation_p.H160Q|CHD9_uc002egz.1_Missense_Mutation_p.H160Q|CHD9_uc002ehc.3_Missense_Mutation_p.H160Q	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	160					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TGGCACACCATGACTTTGCCT	0.388													A	53190481	T	A	53190481	3	1	61	1	0	0	0	0	1	0	0	0	3362	1461	51	5	482	5	CHD9	16	53190481	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	25707294	53190481	37164272	41	3951											
CTU2	348180	broad.mit.edu	37	chr16	88779258	88779258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactgaggctctttcccaaCtgttctgctcagtgaggaca	9	11	10	11	0	3	3	1	2	2	1	4	4	4	4	1	2	2	3	1	2	1	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr16:88779258C>A	uc010chz.3	+	6	943	c.895C>A	c.(895-897)Ctg>Atg	p.L299M	CTU2_uc002flm.3_Missense_Mutation_p.L228M|CTU2_uc002fln.3_Missense_Mutation_p.L228M|CTU2_uc010cia.3_Missense_Mutation_p.L141M	NM_001012759	NP_001012777	Q2VPK5	CTU2_HUMAN	Homo sapiens cytosolic thiouridylase subunit 2 homolog (S. pombe) (CTU2), transcript variant 1, mRNA.	228					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						TCTTTCCCAACTGTTCTGCTC	0.677													A	88779258	C	A	88779258	3	1	61	1	0	0	0	0	1	0	0	0	4081	564	20	4	708	4	CTU2	16	88779258	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	35588777	88779258	1575495	42	3952											
ITGB4	3691	broad.mit.edu	37	chr17	73733432	73733432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtgcgctgctccttcCgggacgaggatgacgactgc	5	9	16	11	4	0	1	0	1	0	0	2	5	2	3	2	4	3	2	2	4	0	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr17:73733432C>T	uc002jpg.3	+	16	2207	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	ITGB4_uc002jph.3_Missense_Mutation_p.R674W|ITGB4_uc010dgo.3_Missense_Mutation_p.R674W|ITGB4_uc002jpi.4_Missense_Mutation_p.R674W|ITGB4_uc010dgp.1_Missense_Mutation_p.R674W|ITGB4_uc002jpj.3_Missense_Mutation_p.R674W	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	674				IHPGLCEDLRSCVQCQAWGTGEKKGRTCEECNFKVKMVDEL KRAEEVVVRCSFRDEDDDCTYSYTMEGDGAPGPNSTVLVHK KK -> STRASARTYAPACSARRGAPARRRGARVRNATSRS RWWTSLREARRWWCAAPSGTRMTTAPTATPWKVTAPLGPTA LSWCTRRR (in Ref. 5; CAB61345).	cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGCTCCTTCCGGGACGAGGA	0.652													T	73733432	C	T	73733432	3	4	61	1	0	0	0	0	1	0	0	0	7955	643	23	1	2082	1	ITGB4	17	73733432	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		73733432	7461778	43	3953											
BCL2	596	broad.mit.edu	37	chr18	60985794	60985796	+	In_Frame_Del	DEL	CCA	CCA	-																															ggcccccgggggcgcggcgcCcacatctcccgcatcccact																										TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr18:60985794_60985796delCCA	uc002lit.1	-	1	597_599	c.104_106delTGG	c.(103-108)gtgggc>ggc	p.V35del	BCL2_uc002liu.1_In_Frame_Del_p.V35del|BCL2_uc002liv.1_In_Frame_Del_p.V35del|BCL2_uc021ulf.1_In_Frame_Del_p.V35del	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	35		Cleavage; by caspase-3.			activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding	p.V35M(1)|p.D34G(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ggcgcggcgcccACATCTCCCGC	0.68			T	IGH@	"NHL, CLL"								-	60985796	CCA	-	60985794	7	5	61	1	0	1	0	1	0	0	0	0	1370	623	22	0	654	0	BCL2	18	60985794	In_Frame_Del	DEL	CCA	TCGA-06-0745-01A-01W-0348-08		60985794	17091454	44	3954											
C3	718	broad.mit.edu	37	chr19	6714208	6714208	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcaaactcagtggagaaGacctgctgtggtgagttttc	10	11	11	9	0	2	3	2	1	0	2	3	4	2	3	2	2	2	2	2	2	2	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:6714208G>C	uc002mfm.3	-	5	713	c.651C>G	c.(649-651)gtC>gtG	p.V217V		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	217					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CAGTGGAGAAGACCTGCTGTG	0.632													C	6714208	G	C	6714208	2	2	61	1	0	0	0	0	0	0	0	1	2225	929	33	4		4	C3	19	6714208	Silent	SNP	G	TCGA-06-0745-01A-01W-0348-08		6714208	52414775	45	3955											
MUC16	94025	broad.mit.edu	37	chr19	9072189	9072189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtcacaggttccaagCgtgtacgtaatatgtctgta	10	12	11	8	2	2	0	1	0	1	0	3	0	3	0	1	2	3	5	1	2	5	5			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:9072189C>T	uc002mkp.3	-	2	15461	c.15257G>A	c.(15256-15258)cGc>cAc	p.R5086H		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5088	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R5086L(3)|p.R719L(1)		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						AGGTTCCAAGCGTGTACGTAA	0.433													T	9072189	C	T	9072189	3	4	61	1	0	0	0	0	1	0	0	0	10049	768	27	1	28594	1	MUC16	19	9072189	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	2357981	9072189	50056794	46	3956											
ZNF844	284391	broad.mit.edu	37	chr19	12187210	12187210	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatgaatgtaagcagtgtAgtaaagccttcatttcttcc	11	14	7	9	0	2	1	1	1	1	0	3	1	3	1	3	0	2	4	3	0	6	7	rs6511764	by1000genomes	TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:12187210A>G	uc002mtb.2	+	3	1418	c.1275A>G	c.(1273-1275)gtA>gtG	p.V425V	ZNF844_uc010dym.1_Silent_p.V268V	NM_001136501	NP_001129973	Q08AG5	ZN844_HUMAN	Homo sapiens zinc finger protein 844 (ZNF844), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						TAAGCAGTGTAGTAAAGCCTT	0.428													G	12187210	A	G	12187210	2	3	61	1	0	0	0	0	0	0	0	1	18289	407	15	3		3	ZNF844	19	12187210	Silent	SNP	A	TCGA-06-0745-01A-01W-0348-08	3115021	12187210	46941773	47	3957											
ZNF813	126017	broad.mit.edu	37	chr19	53995161	53995161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtaatgaatgtggcaagGtttttaatcaaaaagcacac	16	11	9	5	0	1	1	1	1	0	0	1	1	1	1	0	2	1	4	0	2	6	4			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr19:53995161G>A	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.V559I	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		ATGTGGCAAGGTTTTTAATCA	0.363													A	53995161	G	A	53995161	3	1	61	1	0	0	0	0	1	0	0	0	18274	1261	44	2	1685	2	ZNF813	19	53995161	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08	41807951	53995161	5133822	48	3958											
SLC17A9	63910	broad.mit.edu	37	chr20	61596986	61596986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttggcctctccagcGtctttgctctgtgcctgggc	1	13	13	14	1	3	0	0	0	3	0	4	0	3	0	4	3	3	1	4	3	0	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr20:61596986G>A	uc002yea.4	+	9	1154	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	SLC17A9_uc002ydz.4_Missense_Mutation_p.V318I|SLC17A9_uc011aap.1_Missense_Mutation_p.V344I	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	324					exocytosis|transmembrane transport	integral to membrane	transporter activity	p.V324I(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTCTCCAGCGTCTTTGCTCT	0.652													A	61596986	G	A	61596986	3	1	61	1	0	0	0	0	1	0	0	0	14518	1145	40	1	1008	1	SLC17A9	20	61596986	Missense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		61596986	1428534	49	3959											
RGL4	266747	broad.mit.edu	37	chr22	24040417	24040417	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggtccgagttctgcagGaaatgcagctgctccaagtg	10	8	14	9	1	1	0	0	0	1	0	3	3	3	2	2	3	4	5	2	3	2	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:24040417G>T	uc002zxo.3	+	9	2536	c.1279G>T	c.(1279-1281)Gaa>Taa	p.E427*	GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Nonsense_Mutation_p.E427*|RGL4_uc002zxp.1_Nonsense_Mutation_p.E291*|RGL4_uc002zxq.3_Nonsense_Mutation_p.E291*			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	427	Ras-GEF.				small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						AGTTCTGCAGGAAATGCAGCT	0.547													T	24040417	G	T	24040417	4	4	61	1	0	0	0	0	0	1	0	0	13367	1175	41	4	1317	4	RGL4	22	24040417	Nonsense_Mutation	SNP	G	TCGA-06-0745-01A-01W-0348-08		24040417	27264149	50	3960											
CHEK2	11200	broad.mit.edu	37	chr22	29130518	29130518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcctgagtggacactgtCtctaaggagctcagtgtccc	8	11	11	11	0	2	1	1	1	1	0	5	3	4	3	2	2	1	2	2	2	1	2			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:29130518C>T	uc003adu.1	-	1	264	c.192G>A	c.(190-192)gaG>gaA	p.E64E	CHEK2_uc010gvj.1_Non-coding_Transcript|CHEK2_uc003adr.1_Non-coding_Transcript|CHEK2_uc010gvk.1_Non-coding_Transcript|CHEK2_uc003ads.1_5'UTR|CHEK2_uc010gvh.1_Silent_p.E64E|CHEK2_uc010gvi.1_Silent_p.E64E|CHEK2_uc003adt.1_Silent_p.E64E|CHEK2_uc003adv.1_Silent_p.E64E|CHEK2_uc003adx.1_5'UTR	NM_007194	NP_009125	O96017	CHK2_HUMAN	Homo sapiens checkpoint kinase 2 (CHEK2), transcript variant 1, mRNA.	64			E -> K (in prostate cancer; somatic mutation).		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			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGGACACTGTCTCTAAGGAGC	0.567			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					T	29130518	C	T	29130518	2	4	61	1	0	0	0	0	0	0	0	1	3365	912	32	2		2	CHEK2	22	29130518	Silent	SNP	C	TCGA-06-0745-01A-01W-0348-08	5090101	29130518	22174048	51	3961											
SBF1	6305	broad.mit.edu	37	chr22	50901747	50901747	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcatacggacgacaaagtCaaactgctggtggtccagga	13	7	11	10	2	2	0	2	0	0	0	3	3	3	2	1	4	3	1	1	4	3	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chr22:50901747C>G	uc003blh.3	-	15	2059	c.1864G>C	c.(1864-1866)Gac>Cac	p.D622H	SBF1_uc011arx.2_Missense_Mutation_p.D286H|SBF1_uc003bli.2_Missense_Mutation_p.D623H	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	622					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)		ACGACAAAGTCAAACTGCTGG	0.632													G	50901747	C	G	50901747	3	3	61	1	0	0	0	0	1	0	0	0	13950	826	29	4	3921	4	SBF1	22	50901747	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	21771229	50901747	402819	52	3962											
MXRA5	25878	broad.mit.edu	37	chrX	3239887	3239887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttttcagagaaacagttCtaggcaaaagtatagtttct	14	13	8	6	0	3	1	1	0	2	1	3	2	3	1	0	1	1	5	0	1	6	7			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:3239887C>T	uc004crg.4	-	4	3996	c.3839G>A	c.(3838-3840)aGa>aAa	p.R1280K		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1280						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAACAGTTCTAGGCAAAAG	0.408													T	3239887	C	T	3239887	3	4	61	1	0	0	0	0	1	0	0	0	10079	913	32	2	4659	2	MXRA5	23	3239887	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08		3239887	152030673	53	3963											
ZXDB	158586	broad.mit.edu	37	chrX	57619132	57619132	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaagctgggttcccgcaTgccgcgcacccgggtgactg	5	6	14	16	5	0	1	0	1	0	0	1	1	1	1	4	2	2	5	4	2	1	1			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:57619132T>A	uc004dvd.3	+	0	864	c.651T>A	c.(649-651)caT>caA	p.H217Q		NM_007157	NP_009088	P98169	ZXDB_HUMAN	Homo sapiens zinc finger, X-linked, duplicated B (ZXDB), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.H217Q(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GGTTCCCGCATGCCGCGCACC	0.746													A	57619132	T	A	57619132	3	1	61	1	0	0	0	0	1	0	0	0	18348	1461	51	5	653	5	ZXDB	23	57619132	Missense_Mutation	SNP	T	TCGA-06-0745-01A-01W-0348-08	54379245	57619132	97651428	54	3964											
CHM	1121	broad.mit.edu	37	chrX	85218739	85218739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaagtaattctgtttttCtttggttgctctgtggtatc	6	20	10	5	0	3	0	0	0	3	0	4	1	3	0	0	2	1	6	0	2	3	8			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:85218739C>A	uc004eet.3	-	4	663	c.633G>T	c.(631-633)aaG>aaT	p.K211N	CHM_uc011mqz.2_Missense_Mutation_p.K63N	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	211					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TTCTGTTTTTCTTTGGTTGCT	0.333													A	85218739	C	A	85218739	3	1	61	1	0	0	0	0	1	0	0	0	3380	912	32	4	1372	4	CHM	23	85218739	Missense_Mutation	SNP	C	TCGA-06-0745-01A-01W-0348-08	27599607	85218739	70051821	55	3965											
PCDH11X	27328	broad.mit.edu	37	chrX	91090731	91090731	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgtgccactgattcgAattgaagaggatactggtga	12	10	14	5	1	0	5	0	3	0	2	1	8	0	6	1	3	2	0	1	3	3	3			TCGA-06-0745-01A-01W-0348-08	TCGA-06-0745-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	188c837e-6389-48eb-8b77-91c8a2f099ac	aead37c5-66ed-4ebd-9bb3-8086031213b8	g.chrX:91090731A>T	uc004efk.2	+	0	1073	c.228A>T	c.(226-228)cgA>cgT	p.R76R	PCDH11X_uc004efl.2_Silent_p.R76R|PCDH11X_uc010nmv.2_Silent_p.R76R|PCDH11X_uc004efm.2_Silent_p.R76R|PCDH11X_uc004efn.2_Silent_p.R76R|PCDH11X_uc004efo.2_Silent_p.R76R|PCDH11X_uc004efh.2_Silent_p.R76R|PCDH11X_uc004efj.1_Silent_p.R76R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	76	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CACTGATTCGAATTGAAGAGG	0.443													T	91090731	A	T	91090731	2	4	61	1	0	0	0	0	0	0	0	1	11584	233	9	5		5	PCDH11X	23	91090731	Silent	SNP	A	TCGA-06-0745-01A-01W-0348-08	5871992	91090731	64179829	56	3966											
MTOR	2475	broad.mit.edu	37	chr1	11217231	11217231	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccaaggcctcgaggcAgcgcatgcggcccagcatca	8	5	11	17	3	1	0	1	0	0	0	3	1	2	0	4	3	3	3	4	3	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:11217231A>G	uc001asd.3	-	29	4568	c.4447T>C	c.(4447-4449)Tgc>Cgc	p.C1483R		NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1483	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.C1483F(2)|p.C1483Y(1)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GCCTCGAGGCAGCGCATGCGG	0.527													G	11217231	A	G	11217231	3	3	62	1	0	0	0	0	1	0	0	0	10030	188	7	3	3318	3	MTOR	1	11217231	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08		11217231	238033390	1	3967											
KIF17	57576	broad.mit.edu	37	chr1	21031072	21031072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgatgttcttggcccGgttggcgtagcgcagcgtgc	3	12	15	11	4	1	1	0	1	1	0	2	1	2	1	2	3	3	5	2	3	1	5	rs139912475		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:21031072G>A	uc001bdr.4	-	4	1109	c.991C>T	c.(991-993)Cgg>Tgg	p.R331W	KIF17_uc001bds.4_Missense_Mutation_p.R331W	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	331					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TTCTTGGCCCGGTTGGCGTAG	0.597													A	21031072	G	A	21031072	3	1	62	1	0	0	0	0	1	0	0	0	8337	1115	39	1	2142	1	KIF17	1	21031072	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	9813841	21031072	228219549	2	3968											
ELTD1	64123	broad.mit.edu	37	chr1	79412033	79412033	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccaggtacacacataCaataataacttccttctgtg	14	11	6	10	0	1	1	0	1	1	0	2	1	2	1	2	1	4	1	2	1	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:79412033C>G	uc001diq.4	-	2	407	c.251G>C	c.(250-252)tGt>tCt	p.C84S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	84	EGF-like 2; calcium-binding (Potential).				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.C84Y(2)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TACACACATACAATAATAACT	0.363													G	79412033	C	G	79412033	3	3	62	1	0	0	0	0	1	0	0	0	5125	478	17	4	1873	4	ELTD1	1	79412033	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	58380961	79412033	169838588	3	3969											
ABCA4	24	broad.mit.edu	37	chr1	94543367	94543367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagaggaagtttaggAtggcttcagcagtaatacct	11	12	11	7	0	1	1	1	0	0	1	1	3	1	3	2	3	2	5	2	3	5	7			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:94543367A>T	uc001dqh.3	-	10	1537	c.1433T>A	c.(1432-1434)aTc>aAc	p.I478N	ABCA4_uc010otn.1_Missense_Mutation_p.I478N	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	478					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GAAGTTTAGGATGGCTTCAGC	0.493													T	94543367	A	T	94543367	3	4	62	1	0	0	0	0	1	0	0	0	34	333	12	5	5548	5	ABCA4	1	94543367	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	15131334	94543367	154707254	4	3970											
ATP1A2	477	broad.mit.edu	37	chr1	160106156	160106156	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcagcatggcctacggacaGatcggtgcgccaagccccgg	9	5	13	14	4	1	1	1	0	0	1	2	2	1	2	4	4	4	1	4	4	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:160106156G>C	uc001fvc.3	+	17	2691	c.2559G>C	c.(2557-2559)caG>caC	p.Q853H	ATP1A2_uc001fvb.2_Missense_Mutation_p.Q853H|ATP1A2_uc001fvd.3_Missense_Mutation_p.Q589H	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	853					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTACGGACAGATCGGTGCGC	0.577													C	160106156	G	C	160106156	3	2	62	1	0	0	0	0	1	0	0	0	1134	933	33	4	2629	4	ATP1A2	1	160106156	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	65562789	160106156	89144465	5	3971											
DUSP27	92235	broad.mit.edu	37	chr1	167064116	167064116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaggacacagaggaggaGcaggtagtcccaagcgagga	16	2	16	7	1	0	2	0	0	0	2	1	7	1	6	1	5	2	2	1	5	3	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167064116G>A	uc001geb.1	+	0	46	c.30G>A	c.(28-30)gaG>gaA	p.E10E		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	10					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						CAGAGGAGGAGCAGGTAGTCC	0.547													A	167064116	G	A	167064116	2	1	62	1	0	0	0	0	0	0	0	1	4863	962	34	2		2	DUSP27	1	167064116	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	6957960	167064116	82186505	6	3972											
DUSP27	92235	broad.mit.edu	37	chr1	167095182	167095182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcttcctgaagcagctgCgggagctcaatgagaagttg	10	8	15	8	1	1	2	1	2	0	1	2	4	2	3	1	2	4	5	1	2	3	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:167095182C>T	uc001geb.1	+	4	830	c.814C>T	c.(814-816)Cgg>Tgg	p.R272W		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	272					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GAAGCAGCTGCGGGAGCTCAA	0.582													T	167095182	C	T	167095182	3	4	62	1	0	0	0	0	1	0	0	0	4863	759	27	1	832	1	DUSP27	1	167095182	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	31066	167095182	82155439	7	3973											
NLRP3	114548	broad.mit.edu	37	chr1	247587535	247587535	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctatatccactgtcgagagGtgagccttgtgacacagagg	10	10	12	9	1	1	4	0	2	1	2	3	5	2	4	2	2	1	0	2	2	2	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr1:247587535G>T	uc001icr.3	+	4	928	c.790G>T	c.(790-792)Gtg>Ttg	p.V264L	NLRP3_uc001ics.3_Missense_Mutation_p.V264L|NLRP3_uc001icu.3_Missense_Mutation_p.V264L|NLRP3_uc001icw.3_Missense_Mutation_p.V264L|NLRP3_uc001icv.3_Missense_Mutation_p.V264L|NLRP3_uc010pyw.2_Missense_Mutation_p.V262L|NLRP3_uc001ict.1_Missense_Mutation_p.V262L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	264	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTGTCGAGAGGTGAGCCTTGT	0.537													T	247587535	G	T	247587535	3	4	62	1	0	0	0	0	1	0	0	0	10554	1261	44	4	800	4	NLRP3	1	247587535	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	80492353	247587535	1663086	8	3974											
SLC9A4	389015	broad.mit.edu	37	chr2	103095456	103095456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatctcctgccacccatcGttctggagggcggctacttc	5	12	10	14	2	2	0	0	0	2	0	5	1	2	1	3	3	2	3	3	3	2	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:103095456G>A	uc002tbz.4	+	1	872	c.415G>A	c.(415-417)Gtt>Att	p.V139I		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	139					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCACCCATCGTTCTGGAGGG	0.617													A	103095456	G	A	103095456	3	1	62	1	0	0	0	0	1	0	0	0	14810	1145	40	1	421	1	SLC9A4	2	103095456	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		103095456	140103917	9	3975											
ANAPC1	64682	broad.mit.edu	37	chr2	112541977	112541977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgttcataccactgagtgcCctttacaaatgtaaaagtcc	12	13	6	10	0	1	1	1	1	0	0	2	1	2	1	3	0	3	2	3	0	5	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:112541977C>T	uc002thi.3	-	41	5165	c.4918_splice	c.e41-1	p.G1640_splice		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	1640					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACTGAGTGCCCTTTACAAAT	0.458													T	112541977	C	T	112541977	3	4	62	1	0	0	0	0	1	0	0	0	598	637	22	2	948	2	ANAPC1	2	112541977	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	9446521	112541977	130657396	10	3976											
TTN	7273	broad.mit.edu	37	chr2	179542530	179542530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcctcttcctcaggtagaActtcctcttcctcaggtaga	7	14	6	14	0	4	2	2	0	2	2	8	2	8	2	4	2	1	2	4	2	3	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:179542530A>G	uc021vsy.1	-	142	30602	c.30377T>C	c.(30376-30378)gTt>gCt	p.V10126A	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V6787A|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11053	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGGTAGAACTTCCTCTTC	0.448													G	179542530	A	G	179542530	3	3	62	1	0	0	0	0	1	0	0	0	16837	43	2	3	70288	3	TTN	2	179542530	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	67000553	179542530	63656843	11	3977											
ALPI	248	broad.mit.edu	37	chr2	233323014	233323014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgacgccattgagagggCgggccagctcaccagcgagg	9	3	16	13	5	1	1	1	1	0	1	1	5	1	1	3	3	2	1	3	3	0	1	rs146257849	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:233323014C>T	uc002vst.4	+	8	1156	c.1079C>T	c.(1078-1080)gCg>gTg	p.A360V	ALPI_uc002vsu.4_Missense_Mutation_p.A271V	NM_001631	NP_001622	P09923	PPBI_HUMAN	Homo sapiens alkaline phosphatase, intestinal (ALPI), mRNA.	360					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		ATTGAGAGGGCGGGCCAGCTC	0.627													T	233323014	C	T	233323014	3	4	62	1	0	0	0	0	1	0	0	0	543	768	27	1	1113	1	ALPI	2	233323014	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	53780484	233323014	9876359	12	3978											
PDCD1	5133	broad.mit.edu	37	chr2	242800933	242800933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaagaaccatcctggccGccagcccagttgtagcaccg	10	6	9	16	2	0	1	0	0	0	1	1	1	1	1	7	1	3	3	7	1	3	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr2:242800933G>A	uc002wcq.4	-	0	126	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	PDCD1_uc010fzt.3_Non-coding_Transcript	NM_005018	NP_005009	Q15116	PDCD1_HUMAN	Homo sapiens programmed cell death 1 (PDCD1), mRNA.	20					apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		CATCCTGGCCGCCAGCCCAGT	0.677													A	242800933	G	A	242800933	3	1	62	1	0	0	0	0	1	0	0	0	11691	1086	38	1	828	1	PDCD1	2	242800933	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	9477919	242800933	398440	13	3979											
ATP2B2	491	broad.mit.edu	37	chr3	10413514	10413514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatcttggtggtgtaggcGctgttgatggcgatggcatt	7	13	16	5	2	1	2	0	1	1	1	1	3	1	2	0	5	0	4	0	5	2	4	rs148841263	byFrequency	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:10413514G>A	uc003bvt.3	-	11	2077	c.1638C>T	c.(1636-1638)agC>agT	p.S546S	ATP2B2_uc003bvv.3_Silent_p.S501S|ATP2B2_uc003bvw.3_Silent_p.S501S|ATP2B2_uc010hdo.3_Silent_p.S251S	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	546					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TGGTGTAGGCGCTGTTGATGG	0.547													A	10413514	G	A	10413514	2	1	62	1	0	0	0	0	0	0	0	1	1145	1078	38	1		1	ATP2B2	3	10413514	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08		10413514	187608916	14	3980											
NR2C2	7182	broad.mit.edu	37	chr3	15070193	15070193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgacacttcagaaatccAgccagaggaccagtctgcaa	13	6	10	12	1	2	3	1	1	1	2	3	4	3	4	3	2	2	1	3	2	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:15070193A>G	uc003bzj.4	+	7	1116	c.899A>G	c.(898-900)cAg>cGg	p.Q300R	NR2C2_uc003bzi.3_Missense_Mutation_p.Q319R	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	300					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding	p.V299A(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGAAATCCAGCCAGAGGAC	0.542													G	15070193	A	G	15070193	3	3	62	1	0	0	0	0	1	0	0	0	10699	188	7	3	986	3	NR2C2	3	15070193	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	4656679	15070193	182952237	15	3981											
LRRC3B	116135	broad.mit.edu	37	chr3	26751737	26751737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaatgctgccaacgacGctgacctttgtaacctccct	8	11	6	16	2	1	1	1	1	0	0	3	2	3	1	5	0	4	3	5	0	3	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:26751737G>A	uc003cdp.3	+	1	1163	c.574G>A	c.(574-576)Gct>Act	p.A192T	LRRC3B_uc003cdq.3_Missense_Mutation_p.A192T|LRRC3B_uc021wuj.1_Missense_Mutation_p.A192T	NM_052953	NP_443185	Q96PB8	LRC3B_HUMAN	Homo sapiens leucine rich repeat containing 3B (LRRC3B), mRNA.	192	LRRCT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						TGCCAACGACGCTGACCTTTG	0.468													A	26751737	G	A	26751737	3	1	62	1	0	0	0	0	1	0	0	0	9066	1087	38	1	576	1	LRRC3B	3	26751737	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	11681544	26751737	171270693	16	3982											
MST1R	4486	broad.mit.edu	37	chr3	49940194	49940194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactctggctcagtggcgctAagccgtgccaggcgtgtgtg	6	9	15	11	3	2	0	1	0	1	0	2	0	2	0	2	3	3	2	2	3	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:49940194A>G	uc003cxy.4	-	0	1113	c.849T>C	c.(847-849)ctT>ctC	p.L283L	MST1R_uc011bdc.2_Silent_p.L283L|MST1R_uc011bdd.2_Silent_p.L283L|MST1R_uc011bde.1_Silent_p.L283L|MST1R_uc011bdf.1_Silent_p.L283L|MST1R_uc011bdg.2_Silent_p.L283L	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	283	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAGTGGCGCTAAGCCGTGCCA	0.622													G	49940194	A	G	49940194	2	3	62	1	0	0	0	0	0	0	0	1	9967	349	13	3		3	MST1R	3	49940194	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	23188457	49940194	148082236	17	3983											
ITIH4	3700	broad.mit.edu	37	chr3	52851043	52851043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccatgagaacccagccttCtccctctcatactggccagt	9	10	6	16	0	2	1	1	1	2	1	5	2	3	1	5	1	3	0	5	1	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:52851043C>T	uc011bem.2	-	20	2371	c.2343G>A	c.(2341-2343)gaG>gaA	p.E781E	ITIH4_uc011bel.2_Silent_p.E490E|ITIH4_uc003dfy.3_Silent_p.E571E|ITIH4_uc003dfz.3_Silent_p.E776E|ITIH4_uc011ben.2_Silent_p.E746E	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	776					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCCAGCCTTCTCCCTCTCAT	0.592													T	52851043	C	T	52851043	2	4	62	1	0	0	0	0	0	0	0	1	7964	912	32	2		2	ITIH4	3	52851043	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	2910849	52851043	145171387	18	3984											
ARL6	84100	broad.mit.edu	37	chr3	97506846	97506846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttagatattaaacaccGtcgaattccaatcttattct	12	17	3	9	2	3	1	0	0	3	1	5	2	4	1	2	0	1	0	2	0	7	7			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:97506846G>A	uc003drv.3	+	6	675	c.362G>A	c.(361-363)cGt>cAt	p.R121H	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.R121H|ARL6_uc010hoy.3_Missense_Mutation_p.R121H	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	121					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		ATTAAACACCGTCGAATTCCA	0.323													A	97506846	G	A	97506846	3	1	62	1	0	0	0	0	1	0	0	0	946	1145	40	1	380	1	ARL6	3	97506846	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	44655803	97506846	100515584	19	3985											
OR5K1	26339	broad.mit.edu	37	chr3	98189167	98189167	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactttttgtcagtttcAttattctatggatctctttt	6	22	4	9	0	4	0	2	0	2	0	6	1	5	1	1	1	0	1	1	1	2	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98189167A>G	uc003dsm.3	+	0	747	c.747A>G	c.(745-747)tcA>tcG	p.S249S		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S249L(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGTCAGTTTCATTATTCTATG	0.333													G	98189167	A	G	98189167	2	3	62	1	0	0	0	0	0	0	0	1	11242	204	8	3		3	OR5K1	3	98189167	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	682321	98189167	99833263	20	3986											
ST3GAL6	10402	broad.mit.edu	37	chr3	98507190	98507190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacactaatggtttttggaaGaaaccagccttaaacctgat	15	11	7	8	0	0	2	0	1	0	1	0	3	0	3	3	2	4	1	3	2	6	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:98507190G>C	uc003dtc.3	+	8	1106	c.639G>C	c.(637-639)aaG>aaC	p.K213N	ST3GAL6_uc003dsy.3_Missense_Mutation_p.K127N|ST3GAL6_uc003dsz.3_Missense_Mutation_p.K213N|ST3GAL6_uc003dta.3_Missense_Mutation_p.K95N|ST3GAL6_uc010hpd.3_Missense_Mutation_p.K266N	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	213					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GTTTTTGGAAGAAACCAGCCT	0.323													C	98507190	G	C	98507190	3	2	62	1	0	0	0	0	1	0	0	0	15315	933	33	4	665	4	ST3GAL6	3	98507190	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	318023	98507190	99515240	21	3987											
MYLK	4638	broad.mit.edu	37	chr3	123428617	123428617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacctgacacttggacaGtcatagtgacctggcttcca	11	9	9	12	0	1	3	1	2	0	1	2	4	2	4	3	2	0	1	3	2	1	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:123428617G>C	uc003ego.3	-	13	2210	c.1928C>G	c.(1927-1929)aCt>aGt	p.T643S	MYLK_uc011bjw.2_Missense_Mutation_p.T643S|MYLK_uc003egp.3_Missense_Mutation_p.T574S|MYLK_uc003egq.3_Missense_Mutation_p.T643S|MYLK_uc003egr.3_Missense_Mutation_p.T574S|MYLK_uc003egs.3_Missense_Mutation_p.T467S	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	643	Ig-like C2-type 5.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CACTTGGACAGTCATAGTGAC	0.532													C	123428617	G	C	123428617	3	2	62	1	0	0	0	0	1	0	0	0	10132	1029	36	4	3900	4	MYLK	3	123428617	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	24921427	123428617	74593813	22	3988											
TRIM42	287015	broad.mit.edu	37	chr3	140397090	140397090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggaaactgctatgtgcGtttgctgtccatgttgtaca	8	14	10	9	1	0	0	0	0	0	0	1	1	1	1	2	1	5	5	2	1	3	4	rs116143762	by1000genomes	TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:140397090G>A	uc003eto.2	+	0	225	c.19G>A	c.(19-21)Gtt>Att	p.V7I		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	7	Cys-rich.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCTATGTGCGTTTGCTGTCC	0.507													A	140397090	G	A	140397090	3	1	62	1	0	0	0	0	1	0	0	0	16618	1145	40	1	21	1	TRIM42	3	140397090	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	16968473	140397090	57625340	23	3989											
ZIC4	84107	broad.mit.edu	37	chr3	147114065	147114065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggcagctgccagggCgtcgctgcgggccgcaggcc	3	4	19	15	5	0	0	0	0	0	0	1	0	0	0	3	5	4	5	3	5	0	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:147114065C>T	uc011bno.2	-	2	598	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	ZIC4_uc003ewc.2_Missense_Mutation_p.A18T|ZIC4_uc021xff.1_Missense_Mutation_p.A126T|ZIC4_uc003ewd.2_Missense_Mutation_p.A88T|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	88						nucleus	DNA binding|zinc ion binding	p.A88S(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCTGCCAGGGCGTCGCTGCGG	0.701													T	147114065	C	T	147114065	3	4	62	1	0	0	0	0	1	0	0	0	17782	768	27	1	754	1	ZIC4	3	147114065	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	6716975	147114065	50908365	24	3990											
VPS8	23355	broad.mit.edu	37	chr3	184571960	184571960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacttttccctatggccGggtgagtacgtccctccatc	6	12	10	13	2	0	2	0	2	0	0	4	3	3	2	4	2	1	1	4	2	2	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:184571960G>A	uc021xik.1	+	12	1123	c.1035_splice	c.e12+1	p.R345_splice	VPS8_uc003fpb.1_Splice_Site_p.R343_splice|VPS8_uc010hyd.1_Splice_Site_p.R343_splice	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	345							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			CCCTATGGCCGGGTGAGTACG	0.413													A	184571960	G	A	184571960	3	1	62	1	0	0	0	0	1	0	0	0	17320	1130	39	1	1076	1	VPS8	3	184571960	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	37457895	184571960	13450470	25	3991											
MUC4	4585	broad.mit.edu	37	chr3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcgtgacctgtggatGctgaggaagtgtcggtgaca	7	9	19	6	2	0	3	0	3	0	0	1	5	0	5	1	5	1	1	1	5	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr3:195505849G>A	uc021xjp.1	-	1	12758	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_uc003fva.3_5'Flank|MUC4_uc003fvb.3_5'Flank|MUC4_uc003fvc.3_5'Flank|MUC4_uc003fvd.3_5'Flank|MUC4_uc003fve.3_5'Flank|MUC4_uc010hzr.3_5'Flank|MUC4_uc021xjm.1_Intron|MUC4_uc021xjn.1_Intron|MUC4_uc021xjo.1_Intron|MUC4_uc021xjg.1_Intron|MUC4_uc021xjh.1_Intron|MUC4_uc021xji.1_Intron|MUC4_uc021xjj.1_Intron|MUC4_uc021xjk.1_Intron|MUC4_uc021xjl.1_Intron|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.592													A	195505849	G	A	195505849	3	1	62	1	0	0	0	0	1	0	0	0	10054	1319	46	2		2	MUC4	3	195505849	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	10933889	195505849	2516581	26	3992											
TLR6	10333	broad.mit.edu	37	chr4	38830788	38830788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagataaatccaaatattCtaaatcctggttgaacttga	16	13	6	6	0	1	3	0	3	1	1	3	4	3	3	2	1	1	1	2	1	7	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:38830788C>T	uc010ifg.2	-	1	428	c.307G>A	c.(307-309)Gaa>Aaa	p.E103K	TLR6_uc003gtm.3_Missense_Mutation_p.E103K	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	103					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCAAATATTCTAAATCCTGG	0.363													T	38830788	C	T	38830788	3	4	62	1	0	0	0	0	1	0	0	0	16055	922	32	2	2087	2	TLR6	4	38830788	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		38830788	152323488	27	3993											
PRDM8	56978	broad.mit.edu	37	chr4	81123201	81123201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagacgaacaaggcggCggcgtgggcaccaaggacca	12	1	14	14	4	0	1	0	0	0	1	0	3	0	2	4	5	1	1	4	5	4	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:81123201C>T	uc010ijo.3	+	7	1424	c.585C>T	c.(583-585)ggC>ggT	p.G195G	PRDM8_uc003hmb.4_Silent_p.G195G|PRDM8_uc003hmc.4_Silent_p.G195G	NM_020226	NP_064611	Q9NQV8	PRDM8_HUMAN	Homo sapiens PR domain containing 8 (PRDM8), transcript variant 1, mRNA.	195	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						AACAAggcggcggcgtgggca	0.617											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	81123201	C	T	81123201	2	4	62	1	0	0	0	0	0	0	0	1	12548	755	27	1		1	PRDM8	4	81123201	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	42292413	81123201	110031075	28	3994											
HHIP	64399	broad.mit.edu	37	chr4	145580881	145580881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggggatggctcgcaacGtctcttcattctggaaaaag	10	11	12	8	2	3	0	1	0	2	0	5	2	3	2	0	4	1	2	0	4	4	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr4:145580881G>A	uc003ijs.2	+	3	1402	c.722G>A	c.(721-723)cGt>cAt	p.R241H	HHIP_uc003ijr.2_Missense_Mutation_p.R241H	NM_022475	NP_071920	Q96QV1	HHIP_HUMAN	Homo sapiens hedgehog interacting protein (HHIP), mRNA.	241						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCTCGCAACGTCTCTTCATT	0.453													A	145580881	G	A	145580881	3	1	62	1	0	0	0	0	1	0	0	0	7147	1145	40	1	736	1	HHIP	4	145580881	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	64457680	145580881	45573395	29	3995											
HCN1	348980	broad.mit.edu	37	chr5	45262309	45262309	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatcagagtggacaccTcatggggcagcgagggctgc	10	6	16	9	1	2	1	2	0	0	1	2	4	2	3	1	5	2	2	1	5	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:45262309T>A	uc003jok.3	-	7	2412	c.2387A>T	c.(2386-2388)gAg>gTg	p.E796V		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	796						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGTGGACACCTCATGGGGCAG	0.632													A	45262309	T	A	45262309	3	1	62	1	0	0	0	0	1	0	0	0	7051	1551	54	5	289	5	HCN1	5	45262309	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08		45262309	135652951	30	3996											
PJA2	9867	broad.mit.edu	37	chr5	108680493	108680493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccacctcaacatccactgCaagagactctaaatgggcca	13	6	8	14	0	2	1	1	0	1	1	3	2	3	1	4	2	2	1	4	2	4	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:108680493C>A	uc003kos.4	-	7	2012	c.1792G>T	c.(1792-1794)Gca>Tca	p.A598S		NM_014819	NP_055634	O43164	PJA2_HUMAN	Homo sapiens praja ring finger 2 (PJA2), mRNA.	598	Interaction with PRKAR1A, PRKAR2A and PRKAR2B.				long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATCCACTGCAAGAGACTCT	0.408													A	108680493	C	A	108680493	3	1	62	1	0	0	0	0	1	0	0	0	12039	710	25	4	346	4	PJA2	5	108680493	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	63418184	108680493	72234767	31	3997											
GNPDA1	10007	broad.mit.edu	37	chr5	141385836	141385838	+	In_Frame_Del	DEL	GAA	GAA	-																															gggtggatgtcaatgtgcttGaagaagttgttccacatgaa																										TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:141385836_141385838delGAA	uc003lmf.4	-	2	1039_1041	c.280_282delTTC	c.(280-282)ttcdel	p.F94del	GNPDA1_uc003lmg.4_In_Frame_Del_p.F94del|GNPDA1_uc010jgh.3_In_Frame_Del_p.F94del|GNPDA1_uc003lmh.4_In_Frame_Del_p.F60del	NM_005471	NP_005462	P46926	GNPI1_HUMAN	Homo sapiens glucosamine-6-phosphate deaminase 1 (GNPDA1), mRNA.	94					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTGCTTGAAGAAGTTGTTC	0.527													-	141385838	GAA	-	141385836	7	5	62	1	0	1	0	1	0	0	0	0	6598	1281	45	0	603	0	GNPDA1	5	141385836	In_Frame_Del	DEL	GAA	TCGA-06-0747-01A-01W-0348-08	32705343	141385836	39529424	32	3998											
CPEB4	80315	broad.mit.edu	37	chr5	173317554	173317554	+	Frame_Shift_Del	DEL	A	A	-																															tgcttttaaccagctgcctcAtttggcgaataatcttaaca																										TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr5:173317554delA	uc003mcs.4	+	0	2224	c.818delA	c.(817-819)catfs	p.H273fs	CPEB4_uc010jju.2_Frame_Shift_Del_p.H273fs|CPEB4_uc010jjv.3_Frame_Shift_Del_p.H273fs|CPEB4_uc011dfg.2_Frame_Shift_Del_p.H273fs|CPEB4_uc003mcu.4_5'Flank	NM_030627	NP_085130	Q17RY0	CPEB4_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 4 (CPEB4), mRNA.	273							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCTGCCTCATTTGGCGAAT	0.557													-	173317554	A	-	173317554	7	5	62	1	0	1	0	1	0	0	0	0	3834	217	8	0	820	0	CPEB4	5	173317554	Frame_Shift_Del	DEL	A	TCGA-06-0747-01A-01W-0348-08	31931718	173317554	7597706	33	3999											
PRSS16	10279	broad.mit.edu	37	chr6	27220721	27220721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcagacatgtaccgagttCggcttctgtaagtgactggc	9	12	11	9	2	2	2	1	1	1	1	3	3	2	2	1	2	1	4	1	2	3	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:27220721C>T	uc003nja.3	+	8	1158	c.1143C>T	c.(1141-1143)ttC>ttT	p.F381F	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Silent_p.F124F|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Silent_p.F158F|PRSS16_uc010jqr.1_Silent_p.F132F|PRSS16_uc003njd.3_Intron	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	381					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.F381F(2)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTACCGAGTTCGGCTTCTGTA	0.507													T	27220721	C	T	27220721	2	4	62	1	0	0	0	0	0	0	0	1	12701	883	31	1		1	PRSS16	6	27220721	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08		27220721	143894346	34	4000											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34838669	34838669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaactttgaagactggcCacatcaggccagctgtgggc	9	8	11	13	0	2	2	2	1	0	1	2	2	2	2	3	3	2	1	3	3	2	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:34838669C>T	uc003oju.4	+	17	3991	c.3757C>T	c.(3757-3759)Cac>Tac	p.H1253Y	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1253										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						GAAGACTGGCCACATCAGGCC	0.498													T	34838669	C	T	34838669	3	4	62	1	0	0	0	0	1	0	0	0	17070	594	21	2	3827	2	UHRF1BP1	6	34838669	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	7617948	34838669	136276398	35	4001											
EEF1A1	1915	broad.mit.edu	37	chr6	74227627	74227627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacacccaccgcaactGtctgtctcatatcacgaaca	12	9	6	14	2	3	2	2	2	2	0	4	3	3	2	2	0	2	1	2	0	3	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:74227627G>A	uc003phi.3	-	6	2287	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I	EEF1A1_uc003phj.3_Missense_Mutation_p.T432I|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	432						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CACCGCAACTGTCTGTCTCAT	0.403											OREG0003893	type=REGULATORY REGION|Gene=BC038897|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	74227627	G	A	74227627	3	1	62	1	0	0	0	0	1	0	0	0	4962	1377	48	2	97	2	EEF1A1	6	74227627	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	39388958	74227627	96887440	36	4002											
TMEM30A	55754	broad.mit.edu	37	chr6	75968538	75968538	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcggccagctggtaatgttgGatgtaaatcacttttccttt	8	16	9	8	1	1	0	1	0	0	0	3	1	2	1	2	3	1	4	2	3	3	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:75968538G>C	uc003phw.2	-	5	1128	c.850C>G	c.(850-852)Cca>Gca	p.P284A	TMEM30A_uc003phx.2_Missense_Mutation_p.P248A	NM_018247	NP_060717	Q9NV96	CC50A_HUMAN	Homo sapiens transmembrane protein 30A (TMEM30A), transcript variant 1, mRNA.	284						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(8)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTAATGTTGGATGTAAATCA	0.388													C	75968538	G	C	75968538	3	2	62	1	0	0	0	0	1	0	0	0	16253	1174	41	4	243	4	TMEM30A	6	75968538	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	1740911	75968538	95146529	37	4003											
TTK	7272	broad.mit.edu	37	chr6	80746263	80746263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctaaagctaattgattttGggattgcaaaccaaatgcaa	15	12	8	6	0	0	1	0	1	0	0	0	2	0	2	1	1	5	4	1	1	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:80746263G>C	uc003pjc.3	+	16	2107	c.1996G>C	c.(1996-1998)Ggg>Cgg	p.G666R	TTK_uc003pjb.4_Missense_Mutation_p.G665R	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	666	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		AATTGATTTTGGGATTGCAAA	0.323													C	80746263	G	C	80746263	3	2	62	1	0	0	0	0	1	0	0	0	16822	1348	47	4	2058	4	TTK	6	80746263	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	4777725	80746263	90368804	38	4004											
MYB	4602	broad.mit.edu	37	chr6	135514998	135514998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtcatgttccataccCtgtagcgttacatgtaaata	11	13	6	11	1	1	0	1	0	0	0	3	0	3	0	3	0	3	4	3	0	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr6:135514998C>T	uc003qfh.3	+	6	984	c.785C>T	c.(784-786)cCt>cTt	p.P262L	MYB_uc003qfp.3_Non-coding_Transcript|MYB_uc003qfn.3_Non-coding_Transcript|MYB_uc003qfk.3_Non-coding_Transcript|MYB_uc003qfc.3_Missense_Mutation_p.P262L|MYB_uc003qfr.3_Non-coding_Transcript|MYB_uc003qft.3_Non-coding_Transcript|MYB_uc003qfs.3_5'UTR|MYB_uc003qfw.3_Missense_Mutation_p.P74L|MYB_uc010kgi.3_Missense_Mutation_p.P262L|MYB_uc003qfq.3_Missense_Mutation_p.P262L|MYB_uc010kgj.3_Missense_Mutation_p.P262L|MYB_uc003qfo.3_Missense_Mutation_p.P262L|MYB_uc003qfu.3_Missense_Mutation_p.P262L|MYB_uc003qfy.3_Non-coding_Transcript|MYB_uc003qfl.3_Non-coding_Transcript|MYB_uc003qfv.3_Non-coding_Transcript|MYB_uc003qfz.3_Non-coding_Transcript|MYB_uc003qfx.3_Non-coding_Transcript|MYB_uc003qga.3_Non-coding_Transcript|MYB_uc003qgb.3_Non-coding_Transcript|MYB_uc010kgk.3_Non-coding_Transcript|MYB_uc003qfd.3_Non-coding_Transcript|MYB_uc003qfi.3_Missense_Mutation_p.P262L|MYB_uc003qfe.3_Non-coding_Transcript|MYB_uc003qfg.3_Non-coding_Transcript|MYB_uc003qff.3_Non-coding_Transcript|MYB_uc003qfj.3_Non-coding_Transcript|MYB_uc003qfm.3_Non-coding_Transcript|MYB_uc003qgc.3_Non-coding_Transcript|MYB_uc003qfb.1_Missense_Mutation_p.P262L|MYB_uc003qgd.1_Missense_Mutation_p.P74L|MYB_uc003qge.1_5'Flank	NM_001130173	NP_001123645	P10242	MYB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian) (MYB), transcript variant 1, mRNA.	262					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		GTTCCATACCCTGTAGCGTTA	0.453			T	NFIB	adenoid cystic carcinoma								T	135514998	C	T	135514998	3	4	62	1	0	0	0	0	1	0	0	0	10083	681	24	2	811	2	MYB	6	135514998	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	54768735	135514998	35600069	39	4005											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221823	+	Missense_Mutation	DNP	CC	CC	TT																															gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc																								rs149840192		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:55221822_55221823CC>TT	uc003tqk.3	+	6	1112_1113	c.866_867CC>TT	c.(865-867)gcc>gTT	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTGA	0.594		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			TT	55221823	CC	TT	55221822	3	4	62	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	DNP	CC	TCGA-06-0747-01A-01W-0348-08		55221822	103916841	40	4006											
GPR85	54329	broad.mit.edu	37	chr7	112724771	112724771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagctgcatggctatagttCgccatagatggatggaggat	10	11	13	7	1	1	1	1	0	0	1	2	4	1	4	1	4	2	4	1	4	3	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:112724771C>T	uc010ljv.2	-	1	523	c.6G>A	c.(4-6)gcG>gcA	p.A2A	GPR85_uc003vgp.1_Silent_p.A2A|GPR85_uc003vgq.2_Silent_p.A2A|GPR85_uc010ljw.1_Silent_p.A2A|GPR85_uc022akd.1_Silent_p.A2A	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	2						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A2V(1)|p.A2G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTATAGTTCGCCATAGATG	0.403													T	112724771	C	T	112724771	2	4	62	1	0	0	0	0	0	0	0	1	6769	871	31	1		1	GPR85	7	112724771	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	57502949	112724771	46413892	41	4007											
DENND2A	27147	broad.mit.edu	37	chr7	140267052	140267052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttcagccgggacttcacgTtgaccaggcgctggctgtga	6	9	14	12	3	2	2	2	2	0	0	2	3	2	3	2	3	1	4	2	3	0	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:140267052T>C	uc010lnk.3	-	8	2133	c.1613A>G	c.(1612-1614)aAc>aGc	p.N538S	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.N538S|DENND2A_uc003vvw.3_Missense_Mutation_p.N538S|DENND2A_uc003vvx.3_Missense_Mutation_p.N538S	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	538										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GGACTTCACGTTGACCAGGCG	0.567													C	140267052	T	C	140267052	3	2	62	1	0	0	0	0	1	0	0	0	4468	1725	60	3	1464	3	DENND2A	7	140267052	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	27542281	140267052	18871611	42	4008											
GBX1	2636	broad.mit.edu	37	chr7	150845924	150845924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcaggtatttcttgcAatgaaattccttctccaatt	11	15	5	10	0	3	1	1	1	2	0	5	1	4	1	2	1	2	3	2	1	5	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr7:150845924A>T	uc011kvg.2	-	1	1076	c.844T>A	c.(844-846)Tgc>Agc	p.C282S		NM_001098834	NP_001092304	Q14549	GBX1_HUMAN	Homo sapiens gastrulation brain homeobox 1 (GBX1), mRNA.	282						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TATTTCTTGCAATGAAATTCC	0.557													T	150845924	A	T	150845924	3	4	62	1	0	0	0	0	1	0	0	0	6334	130	5	5	250	5	GBX1	7	150845924	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	10578872	150845924	8292739	43	4009											
RPS20	6224	broad.mit.edu	37	chr8	56985787	56985787	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaacgatcccacgtcttAgaaccttcaccacaaggagt	13	8	8	12	2	2	1	1	0	1	1	3	4	3	3	3	2	2	0	3	2	4	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:56985787A>T	uc003xsm.2	-	3	420	c.222T>A	c.(220-222)tcT>tcA	p.S74S	RPS20_uc003xsn.2_Silent_p.S74S	NM_001146227	NP_001139699	P60866	RS20_HUMAN	Homo sapiens ribosomal protein S20 (RPS20), transcript variant 1, mRNA.	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome						all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.155)	Epithelial(17;0.00117)|all cancers(17;0.00879)			CCCACGTCTTAGAACCTTCAC	0.388													T	56985787	A	T	56985787	2	4	62	1	0	0	0	0	0	0	0	1	13723	407	15	5		5	RPS20	8	56985787	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08		56985787	89378235	44	4010											
ARFGEF1	10565	broad.mit.edu	37	chr8	68140324	68140327	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															cttgggtgtgtcgtggaaagTaattcatccatagacacagc																										TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:68140324_68140327delTAAT	uc003xxo.2	-	24	3852_3855	c.3462_3465delATTA	c.(3460-3465)gaattafs	p.E1154fs	ARFGEF1_uc003xxl.1_Frame_Shift_Del_p.E608fs|ARFGEF1_uc003xxn.2_Frame_Shift_Del_p.E137fs	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1154					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TCGTGGAAAGTAATTCATCCATAG	0.343													-	68140327	TAAT	-	68140324	7	5	62	1	0	1	0	1	0	0	0	0	855	1635	57	0	2144	0	ARFGEF1	8	68140324	Frame_Shift_Del	DEL	TAAT	TCGA-06-0747-01A-01W-0348-08	11154537	68140324	78223698	45	4011											
EIF2C2	27161	broad.mit.edu	37	chr8	141570507	141570507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcattttccagagagaaggCcggacggactgatggaagcc	12	7	13	9	2	1	3	1	1	0	2	2	7	2	6	3	4	1	0	3	4	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr8:141570507C>T	uc003yvn.3	-	4	662	c.621G>A	c.(619-621)cgG>cgA	p.R207R	EIF2C2_uc010meo.3_Silent_p.R207R|EIF2C2_uc010men.3_Silent_p.R130R	NM_012154	NP_036286	Q9UKV8	AGO2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 2 (EIF2C2), transcript variant 1, mRNA.	207					mRNA cleavage involved in gene silencing by miRNA|negative regulation of translation involved in gene silencing by miRNA|negative regulation of translational initiation|pre-miRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|micro-ribonucleoprotein complex|mRNA cap binding complex|nucleus|polysome|RNA-induced silencing complex	endoribonuclease activity, cleaving siRNA-paired mRNA|metal ion binding|protein binding|RNA 7-methylguanosine cap binding|siRNA binding|translation initiation factor activity			NS(1)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	33	all_cancers(97;2.54e-14)|all_epithelial(106;5.99e-13)|Lung NSC(106;1.45e-05)|all_lung(105;2.07e-05)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.158)			AGAGAGAAGGCCGGACGGACT	0.622													T	141570507	C	T	141570507	2	4	62	1	0	0	0	0	0	0	0	1	5045	726	26	2		2	EIF2C2	8	141570507	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	73430183	141570507	4793515	46	4012											
IFNA10	3446	broad.mit.edu	37	chr9	21206995	21206995	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagtatcaaggccctcctAttacccaggctgtgggtctg	8	10	12	11	0	2	0	1	0	1	0	3	1	3	1	3	4	1	2	3	4	4	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:21206995A>G	uc003zoq.1	-	0	148	c.102T>C	c.(100-102)aaT>aaC	p.N34N	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	34					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		AGGCCCTCCTATTACCCAGGC	0.512													G	21206995	A	G	21206995	2	3	62	1	0	0	0	0	0	0	0	1	7590	446	16	3		3	IFNA10	9	21206995	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08		21206995	120006436	47	4013											
KIAA0368	23392	broad.mit.edu	37	chr9	114188086	114188086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actttgaatttgtatttgtaCcaaaaagtccatcatacacc	14	14	4	9	0	1	1	1	1	0	0	2	1	2	1	3	0	2	2	3	0	6	6			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:114188086C>T	uc004bfe.1	-	11	1607	c.1607G>A	c.(1606-1608)gGt>gAt	p.G536D	KIAA0368_uc010muc.1_Missense_Mutation_p.G358D	NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGTATTTGTACCAAAAAGTCC	0.254													T	114188086	C	T	114188086	3	4	62	1	0	0	0	0	1	0	0	0	8229	507	18	2	4606	2	KIAA0368	9	114188086	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	92981091	114188086	27025345	48	4014											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123156840	123156840	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagctgcaaaagcttcAtggtgttttgcaacttcttt	8	16	8	9	0	3	0	2	0	1	0	3	0	3	0	0	1	6	6	0	1	3	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:123156840A>C	uc004bkf.3	-	35	5709	c.5528T>G	c.(5527-5529)aTg>aGg	p.M1843R	CDK5RAP2_uc010mvi.3_Missense_Mutation_p.M852R|CDK5RAP2_uc004bke.3_Missense_Mutation_p.M1128R|CDK5RAP2_uc004bkg.3_Missense_Mutation_p.M1764R|CDK5RAP2_uc011lxw.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc011lya.2_Missense_Mutation_p.M1108R|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.M1613R	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	1843	Interaction with PCNT and AKAP9.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CAAAAGCTTCATGGTGTTTTG	0.428													C	123156840	A	C	123156840	3	2	62	1	0	0	0	0	1	0	0	0	3176	217	8	5	165	5	CDK5RAP2	9	123156840	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	8968754	123156840	18056591	49	4015											
OR1J1	347168	broad.mit.edu	37	chr9	125239745	125239745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtatgcaaaagagcacacGcacaagcgatgacccaggac	15	3	12	11	2	0	2	0	1	0	1	0	4	0	3	1	2	3	4	1	2	4	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr9:125239745G>A	uc011lyu.2	-	0	461	c.461C>T	c.(460-462)gCg>gTg	p.A154V	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGAGCACACGCACAAGCGAT	0.542													A	125239745	G	A	125239745	3	1	62	1	0	0	0	0	1	0	0	0	11035	1087	38	1	510	1	OR1J1	9	125239745	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	2082905	125239745	15973686	50	4016											
MBL2	4153	broad.mit.edu	37	chr10	54531391	54531391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagggagtgatggaaacaggGacatggtcctcaccttggtg	10	8	16	7	0	1	1	1	1	0	0	2	5	2	4	2	5	1	0	2	5	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:54531391G>T	uc001jjt.3	-	0	70	c.5C>A	c.(4-6)tCc>tAc	p.S2Y		NM_000242	NP_000233	P11226	MBL2_HUMAN	Homo sapiens mannose-binding lectin (protein C) 2, soluble (MBL2), mRNA.	2					acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAACAGGGACATGGTCCT	0.502													T	54531391	G	T	54531391	3	4	62	1	0	0	0	0	1	0	0	0	9425	1174	41	4	757	4	MBL2	10	54531391	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		54531391	81003356	51	4017											
PCDH15	65217	broad.mit.edu	37	chr10	55839114	55839114	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggcctgccatctgaagCtgtgatgatcagaatgtagc	10	11	11	9	0	3	4	1	3	2	1	3	4	3	4	2	1	3	2	2	1	3	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:55839114C>G	uc010qhy.1	-	17	2478	c.2083G>C	c.(2083-2085)Gct>Cct	p.A695P	PCDH15_uc010qhq.2_Missense_Mutation_p.A695P|PCDH15_uc010qhr.2_Missense_Mutation_p.A690P|PCDH15_uc021pqv.1_Missense_Mutation_p.A690P|PCDH15_uc021pqw.1_Missense_Mutation_p.A702P|PCDH15_uc010qht.2_Missense_Mutation_p.A697P|PCDH15_uc021pqx.1_Missense_Mutation_p.A690P|PCDH15_uc001jjv.1_Missense_Mutation_p.A668P|PCDH15_uc021pqy.1_Missense_Mutation_p.A690P|PCDH15_uc021pqz.1_Missense_Mutation_p.A668P|PCDH15_uc010qhv.1_Missense_Mutation_p.A690P|PCDH15_uc010qhw.1_Missense_Mutation_p.A653P|PCDH15_uc010qhx.1_Missense_Mutation_p.A619P|PCDH15_uc010qhz.1_Missense_Mutation_p.A690P|PCDH15_uc010qia.1_Missense_Mutation_p.A668P|PCDH15_uc001jju.1_Missense_Mutation_p.A690P|PCDH15_uc010qib.1_Missense_Mutation_p.A668P|PCDH15_uc001jjw.3_Missense_Mutation_p.A690P	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	690	Cadherin 6.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CCATCTGAAGCTGTGATGATC	0.433										HNSCC(58;0.16)			G	55839114	C	G	55839114	3	3	62	1	0	0	0	0	1	0	0	0	11587	797	28	4	5486	4	PCDH15	10	55839114	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	1307723	55839114	79695633	52	4018											
MGMT	4255	broad.mit.edu	37	chr10	131506185	131506185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtcccagcccccgctgCggttctcggaggtccggagc	4	6	16	15	4	1	0	0	0	1	0	4	3	3	3	4	6	3	2	4	6	0	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr10:131506185C>T	uc001lkh.2	+	2	271	c.245C>T	c.(244-246)gCg>gTg	p.A82V		NM_002412	NP_002403	B4DEE8	B4DEE8_HUMAN	Homo sapiens O-6-methylguanine-DNA methyltransferase (MGMT), mRNA.	82										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		GCCCCCGCTGCGGTTCTCGGA	0.602								Direct reversal of damage					T	131506185	C	T	131506185	3	4	62	1	0	0	0	0	1	0	0	0	9632	768	27	1	255	1	MGMT	10	131506185	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	75667071	131506185	4028562	53	4019											
PDE3B	5140	broad.mit.edu	37	chr11	14853295	14853295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaacttgtagaaaagatggGagagaaatcaggaaggattc	17	8	13	3	0	1	4	1	1	0	3	2	8	1	7	0	3	1	1	0	3	6	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:14853295G>A	uc001mln.3	+	8	2419	c.2066G>A	c.(2065-2067)gGa>gAa	p.G689E	PDE3B_uc010rcr.2_Missense_Mutation_p.G638E	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	689					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAAAAGATGGGAGAGAAATCA	0.294													A	14853295	G	A	14853295	3	1	62	1	0	0	0	0	1	0	0	0	11714	1174	41	2	2100	2	PDE3B	11	14853295	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		14853295	120153221	54	4020											
HIPK3	10114	broad.mit.edu	37	chr11	33375092	33375092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgagtccaacaaaacTcagccagtatccatatatgt	14	10	5	12	0	1	1	1	1	0	0	4	1	4	1	4	0	3	1	4	0	6	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:33375092T>C	uc001mul.1	+	16	3896	c.3626T>C	c.(3625-3627)cTc>cCc	p.L1209P	HIPK3_uc001mum.1_Missense_Mutation_p.L1188P|HIPK3_uc009yjv.1_Missense_Mutation_p.L1188P	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	1209					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCAACAAAACTCAGCCAGTAT	0.363													C	33375092	T	C	33375092	3	2	62	1	0	0	0	0	1	0	0	0	7173	1551	54	3	3688	3	HIPK3	11	33375092	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	18521797	33375092	101631424	55	4021											
OR5AS1	219447	broad.mit.edu	37	chr11	55798090	55798090	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtattattttcttagcaacTtatctttcttagacatcagc	10	19	4	8	0	4	1	1	0	3	1	4	1	4	1	0	0	3	2	0	0	6	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:55798090T>G	uc010riw.2	+	0	196	c.196T>G	c.(196-198)Tta>Gta	p.L66V		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TCTTAGCAACTTATCTTTCTT	0.348													G	55798090	T	G	55798090	3	3	62	1	0	0	0	0	1	0	0	0	11222	1606	56	5	198	5	OR5AS1	11	55798090	Missense_Mutation	SNP	T	TCGA-06-0747-01A-01W-0348-08	22422998	55798090	79208426	56	4022											
OR5M9	390162	broad.mit.edu	37	chr11	56229973	56229973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatatgtcttggtgattGctttgttgactgcttctttt	5	21	8	7	0	3	2	1	2	2	0	3	2	3	2	0	1	2	3	0	1	1	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:56229973G>C	uc010rjj.2	-	0	905	c.905C>G	c.(904-906)gCa>gGa	p.A302G	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CTTGGTGATTGCTTTGTTGAC	0.378													C	56229973	G	C	56229973	3	2	62	1	0	0	0	0	1	0	0	0	11253	1319	46	4	29	4	OR5M9	11	56229973	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	431883	56229973	78776543	57	4023											
DTX4	23220	broad.mit.edu	37	chr11	58949878	58949878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggccctggccaccttgaAtcgtaccaacctgcagcgac	8	7	11	15	2	0	1	0	1	0	0	1	2	0	1	5	3	4	2	5	3	3	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:58949878A>G	uc001nns.2	+	1	1135	c.878A>G	c.(877-879)aAt>aGt	p.N293S	DTX4_uc001nnr.2_Missense_Mutation_p.N187S	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	293					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GCCACCTTGAATCGTACCAAC	0.612													G	58949878	A	G	58949878	3	3	62	1	0	0	0	0	1	0	0	0	4836	101	4	3	884	3	DTX4	11	58949878	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	2719905	58949878	76056638	58	4024											
PCNXL3	399909	broad.mit.edu	37	chr11	65402835	65402835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacgccctccctgctggcGctgcgccatgtcctggatga	6	8	11	16	3	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr11:65402835G>A	uc001oey.2	+	30	5100	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1700						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632													A	65402835	G	A	65402835	2	1	62	1	0	0	0	0	0	0	0	1	11669	1074	38	1		1	PCNXL3	11	65402835	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	6452957	65402835	69603681	59	4025											
CACNA1C	775	broad.mit.edu	37	chr12	2716205	2716205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccccatcatccaacccCgcagctgggagaacagcaag	13	3	8	17	1	1	1	1	0	0	1	2	2	2	1	6	1	4	3	6	1	3	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:2716205C>T	uc009zdu.1	+	26	3638	c.3325C>T	c.(3325-3327)Cgc>Tgc	p.R1109C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qke.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1089C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qko.2_Missense_Mutation_p.R1109C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qku.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qks.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1089C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1086C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1089C|CACNA1C_uc001qka.1_Missense_Mutation_p.R624C|CACNA1C_uc001qki.1_Missense_Mutation_p.R825C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1109	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CATCCAACCCCGCAGCTGGGA	0.542													T	2716205	C	T	2716205	3	4	62	1	0	0	0	0	1	0	0	0	2566	652	23	1	3539	1	CACNA1C	12	2716205	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		2716205	131135690	60	4026											
TMTC1	83857	broad.mit.edu	37	chr12	29669420	29669420	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacggccaaaacctgagcCtacaaaaccacatggacctt	15	6	6	14	1	1	1	1	1	0	0	1	2	1	2	5	2	4	0	5	2	5	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:29669420C>A	uc021qwi.1	-	15	2229	c.2170_splice	c.e15-1	p.A724_splice	TMTC1_uc001riz.3_Splice_Site_p.A373_splice|TMTC1_uc001rja.3_Splice_Site_p.A460_splice|TMTC1_uc001rjb.3_Splice_Site_p.A616_splice|TMTC1_uc001riy.3_Splice_Site_p.A69_splice	NM_001193451	NP_001180380	Q8IUR5	TMTC1_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 1 (TMTC1), transcript variant 1, mRNA.	724						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					AAACCTGAGCCTACAAAACCA	0.453													A	29669420	C	A	29669420	5	1	62	1	0	0	0	0	0	0	1	0	16360	695	24	4	495	4	TMTC1	12	29669420	Splice_Site	SNP	C	TCGA-06-0747-01A-01W-0348-08	26953215	29669420	104182475	61	4027											
ABCD2	225	broad.mit.edu	37	chr12	40001468	40001468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagtaaatttcgagcagtgGtaaaggcttctgtccgttca	10	12	10	9	2	2	0	1	0	1	0	4	1	3	0	2	2	1	5	2	2	4	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr12:40001468G>A	uc001rmb.2	-	2	1595	c.1169C>T	c.(1168-1170)aCc>aTc	p.T390I		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	390	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TCGAGCAGTGGTAAAGGCTTC	0.323													A	40001468	G	A	40001468	3	1	62	1	0	0	0	0	1	0	0	0	61	1261	44	2	1085	2	ABCD2	12	40001468	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	10332048	40001468	93850427	62	4028											
PCDH20	64881	broad.mit.edu	37	chr13	61985826	61985826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttccaaagtaatgttGccagttttagggtcaatcct	9	14	8	10	0	2	0	1	0	1	0	4	0	4	0	4	1	1	3	4	1	4	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:61985826G>A	uc001vid.4	-	1	2770	c.2406C>T	c.(2404-2406)ggC>ggT	p.G802G	PCDH20_uc010thj.2_Silent_p.G802G	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	775	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AAGTAATGTTGCCAGTTTTAG	0.488													A	61985826	G	A	61985826	2	1	62	1	0	0	0	0	0	0	0	1	11591	1306	46	2		2	PCDH20	13	61985826	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08		61985826	53184052	63	4029											
PCID2	55795	broad.mit.edu	37	chr13	113854813	113854813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgctccatctctgctGtcgatggcttcgtacacctg	7	12	9	13	2	1	1	0	0	1	1	5	2	2	1	2	1	3	4	2	1	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr13:113854813G>A	uc021rmt.1	-	1	135	c.54C>T	c.(52-54)gaC>gaT	p.D18D	PCID2_uc021rmq.1_Silent_p.D18D|PCID2_uc021rmr.1_Silent_p.D18D|PCID2_uc021rms.1_Silent_p.D18D|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	18					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCTCTGCTGTCGATGGCTT	0.418													A	113854813	G	A	113854813	2	1	62	1	0	0	0	0	0	0	0	1	11655	1368	48	2		2	PCID2	13	113854813	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	51868987	113854813	1315065	64	4030											
AHNAK2	113146	broad.mit.edu	37	chr14	105404844	105404844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaacccaatgtttggaagCcaaaaccagagcagaccaga	18	4	9	10	0	0	3	0	0	0	3	0	5	0	4	4	1	4	2	4	1	6	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr14:105404844C>T	uc010axc.1	-	6	17064	c.16944G>A	c.(16942-16944)tgG>tgA	p.W5648*	AHNAK2_uc021sen.1_Nonsense_Mutation_p.W1045*|AHNAK2_uc021seo.1_Nonsense_Mutation_p.W646*|AHNAK2_uc001ypx.2_Nonsense_Mutation_p.W5548*	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5648						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTTTGGAAGCCAAAACCAGA	0.478													T	105404844	C	T	105404844	4	4	62	1	0	0	0	0	0	1	0	0	415	740	26	2	447	2	AHNAK2	14	105404844	Nonsense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		105404844	1944696	65	4031											
EIF3J	8669	broad.mit.edu	37	chr15	44829531	44829532	+	Frame_Shift_Ins	INS	-	-	T																															tcttccgtagacgccgacgcINStttctccgtggaagacccag																										TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:44829531_44829532insT	uc001ztv.3	+	1	180_181	c.53_54insT	c.(52-54)gctfs	p.A18fs	LOC645212_uc021skh.1_5'Flank|LOC645212_uc001ztu.3_5'Flank|EIF3J_uc010ueg.2_Frame_Shift_Ins_p.A18fs	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	18	Sufficient for interaction with EIF3B.					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		GACGCCGACGCTTTCTCCGTGG	0.708													T	44829532	-	T	44829531	7	5	62	1	0	1	1	0	0	0	0	0	5061	797	28	0	59	0	EIF3J	15	44829531	Frame_Shift_Ins	INS	-	TCGA-06-0747-01A-01W-0348-08		44829531	57701861	66	4032											
CEP152	22995	broad.mit.edu	37	chr15	49054660	49054660	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatagcccccttgatggcTatgtccttctcttgttctaa	6	17	6	12	0	3	1	1	1	2	0	5	1	4	1	3	1	1	2	3	1	3	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr15:49054660T>G	uc001zwz.3	-	17	2683	c.2490A>C	c.(2488-2490)atA>atC	p.I830I	CEP152_uc001zwy.3_Silent_p.I830I|CEP152_uc001zxa.2_Silent_p.I737I	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	830					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CCTTGATGGCTATGTCCTTCT	0.358													G	49054660	T	G	49054660	2	3	62	1	0	0	0	0	0	0	0	1	3278	1512	53	5		5	CEP152	15	49054660	Silent	SNP	T	TCGA-06-0747-01A-01W-0348-08	4225129	49054660	53476732	67	4033											
HYDIN	54768	broad.mit.edu	37	chr16	70913364	70913364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagcgatgtcaaacaCgaggcctcggctcttggcca	9	7	10	15	3	3	0	2	0	1	0	4	2	3	0	3	3	2	1	3	3	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr16:70913364C>T	uc002ezr.3	-	61	10541	c.10390G>A	c.(10390-10392)Gtg>Atg	p.V3464M		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3465										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				ATGTCAAACACGAGGCCTCGG	0.567													T	70913364	C	T	70913364	3	4	62	1	0	0	0	0	1	0	0	0	7525	536	19	1	5072	1	HYDIN	16	70913364	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		70913364	19441389	68	4034											
SLC4A1	6521	broad.mit.edu	37	chr17	42330498	42330498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcacccacaagcacagCgaccaggagtccactgatcc	12	5	7	17	1	2	1	2	1	0	0	4	3	4	2	4	1	2	1	4	1	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:42330498C>T	uc002igf.4	-	16	2448	c.2299G>A	c.(2299-2301)Gct>Act	p.A767T	SLC4A1_uc021tyc.1_Missense_Mutation_p.A401T	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	767	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		ACAAGCACAGCGACCAGGAGT	0.637													T	42330498	C	T	42330498	3	4	62	1	0	0	0	0	1	0	0	0	14744	768	27	1	452	1	SLC4A1	17	42330498	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		42330498	38864712	69	4035											
FBF1	85302	broad.mit.edu	37	chr17	73914257	73914257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataccgcgtgtgggaggtGgcactggtggccgcatcgac	7	7	16	11	4	0	0	0	0	0	0	1	2	0	1	2	5	1	2	2	5	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:73914257G>A	uc002jqc.3	-	19	2461	c.2187C>T	c.(2185-2187)gcC>gcT	p.A729A	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Silent_p.A720A|FBF1_uc002jqd.1_Silent_p.A730A|FBF1_uc002jqb.3_Non-coding_Transcript|FBF1_uc010dgr.2_Silent_p.A40A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	729										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TGTGGGAGGTGGCACTGGTGG	0.662													A	73914257	G	A	73914257	2	1	62	1	0	0	0	0	0	0	0	1	5744	1335	47	2		2	FBF1	17	73914257	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	31583759	73914257	7280953	70	4036											
AANAT	15	broad.mit.edu	37	chr17	74465812	74465812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgctggccgtgcaccgCgccttccggcagcagggcag	5	6	15	15	4	0	0	0	0	0	0	1	0	1	0	4	3	3	5	4	3	0	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr17:74465812C>T	uc021udg.1	+	6	1526	c.519C>T	c.(517-519)cgC>cgT	p.R173R	AANAT_uc002jro.3_Silent_p.R128R|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	128	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CCGTGCACCGCGCCTTCCGGC	0.701													T	74465812	C	T	74465812	2	4	62	1	0	0	0	0	0	0	0	1	18	755	27	1		1	AANAT	17	74465812	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08	551555	74465812	6729398	71	4037											
EPB41L3	23136	broad.mit.edu	37	chr18	5489008	5489008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgggctcacctccctccGcaccggggtgctgtgcgctg	2	8	14	17	3	1	0	1	0	0	0	3	0	3	0	5	3	2	4	5	3	0	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:5489008G>A	uc002kmt.1	-	1	261	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R59W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R59W|EPB41L3_uc010dkq.1_5'UTR|EPB41L3_uc010dks.1_Missense_Mutation_p.R81W|EPB41L3_uc002kmv.1_5'UTR	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	59					cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ACCTCCCTCCGCACCGGGGTG	0.672													A	5489008	G	A	5489008	3	1	62	1	0	0	0	0	1	0	0	0	5195	1086	38	1	3172	1	EPB41L3	18	5489008	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		5489008	72588240	72	4038											
LAMA3	3909	broad.mit.edu	37	chr18	21338466	21338466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcttgggagcagagccacGagtgtgaaggtgggtgtggg	7	7	20	7	2	0	2	0	1	0	1	0	4	0	3	2	4	2	2	2	4	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:21338466G>A	uc002kuq.3	+	6	1140	c.1054G>A	c.(1054-1056)Gag>Aag	p.E352K	LAMA3_uc010dlv.2_Missense_Mutation_p.E352K|LAMA3_uc002kur.3_Missense_Mutation_p.E352K	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	352	Domain V.|Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCAGAGCCACGAGTGTGAAGG	0.647													A	21338466	G	A	21338466	3	1	62	1	0	0	0	0	1	0	0	0	8666	1059	37	1	1080	1	LAMA3	18	21338466	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	15849458	21338466	56738782	73	4039											
TAF4B	6875	broad.mit.edu	37	chr18	23873445	23873445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattctgtcacttcaagcAtctcctactcagaaaaatag	16	11	4	10	0	5	1	3	0	2	1	6	1	5	1	1	0	2	1	1	0	7	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr18:23873445A>G	uc002kvt.4	+	8	2286	c.1797A>G	c.(1795-1797)gcA>gcG	p.A599A	TAF4B_uc002kvu.4_Silent_p.A594A|TAF4B_uc002kvs.4_Non-coding_Transcript	NM_005640	NP_005631	Q92750	TAF4B_HUMAN	Homo sapiens TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa (TAF4B), mRNA.	594					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTTCAAGCATCTCCTACTC	0.269													G	23873445	A	G	23873445	2	3	62	1	0	0	0	0	0	0	0	1	15624	204	8	3		3	TAF4B	18	23873445	Silent	SNP	A	TCGA-06-0747-01A-01W-0348-08	2534979	23873445	54203803	74	4040											
BEST2	54831	broad.mit.edu	37	chr19	12864093	12864093	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtgctgaccgaagggCagaagcgctacttcgagaag	10	8	14	9	3	0	3	0	1	0	2	1	5	0	3	1	1	3	4	1	1	4	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:12864093C>T	uc002mux.3	+	1	172	c.172C>T	c.(172-174)Cag>Tag	p.Q58*		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	58					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GACCGAAGGGCAGAAGCGCTA	0.567													T	12864093	C	T	12864093	4	4	62	1	0	0	0	0	0	1	0	0	1410	711	25	2	178	2	BEST2	19	12864093	Nonsense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		12864093	46264890	75	4041											
OR7A10	390892	broad.mit.edu	37	chr19	14951796	14951796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatgttttcatagcaccCtttatgtgtttattcctcag	10	17	6	8	0	2	1	2	0	0	1	3	1	3	1	2	0	1	3	2	0	5	8			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:14951796C>A	uc002mzx.1	-	0	894	c.894G>T	c.(892-894)aaG>aaT	p.K298N		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TCATAGCACCCTTTATGTGTT	0.468													A	14951796	C	A	14951796	3	1	62	1	0	0	0	0	1	0	0	0	11290	680	24	4	39	4	OR7A10	19	14951796	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	2087703	14951796	44177187	76	4042											
MAP1S	55201	broad.mit.edu	37	chr19	17838511	17838511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccggtcacaggaacGggcaggtgggctgggggccg	6	4	20	11	3	1	0	1	0	0	0	1	1	1	1	2	7	2	2	2	7	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:17838511G>A	uc002nhe.1	+	4	2327	c.2318G>A	c.(2317-2319)cGg>cAg	p.R773Q	MAP1S_uc010eaz.2_Missense_Mutation_p.R386Q|MAP1S_uc010xpv.1_Missense_Mutation_p.R747Q	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	773	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.R773R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TCACAGGAACGGGCAGGTGGG	0.687													A	17838511	G	A	17838511	3	1	62	1	0	0	0	0	1	0	0	0	9309	1116	39	1	2336	1	MAP1S	19	17838511	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	2886715	17838511	41290472	77	4043											
CEACAM5	1048	broad.mit.edu	37	chr19	42218934	42218934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaacaactccaaacccGtggaggacaaggatgctgtg	13	5	11	12	1	0	0	0	0	0	0	1	3	1	3	3	3	5	2	3	3	4	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:42218934G>A	uc002orl.3	+	2	590	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	CEACAM5_uc010ehz.1_Missense_Mutation_p.V157M|CEACAM5_uc002orj.1_Missense_Mutation_p.V157M	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	157	Ig-like 2.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTCCAAACCCGTGGAGGACAA	0.562													A	42218934	G	A	42218934	3	1	62	1	0	0	0	0	1	0	0	0	3225	1145	40	1	479	1	CEACAM5	19	42218934	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	24380423	42218934	16910049	78	4044											
FUT1	2523	broad.mit.edu	37	chr19	49253828	49253828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggaggtaggcgctgtcGcccaccacacccttccagcg	6	6	12	17	4	0	0	0	0	0	0	2	1	1	1	5	3	2	2	5	3	1	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:49253828G>A	uc002pkk.3	-	3	1686	c.711C>T	c.(709-711)ggC>ggT	p.G237G	FUT1_uc021uwy.1_Silent_p.G237G	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGCGCTGTCGCCCACCACAC	0.657													A	49253828	G	A	49253828	2	1	62	1	0	0	0	0	0	0	0	1	6153	1074	38	1		1	FUT1	19	49253828	Silent	SNP	G	TCGA-06-0747-01A-01W-0348-08	7034894	49253828	9875155	79	4045											
NLRP12	91662	broad.mit.edu	37	chr19	54314476	54314476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacacattcccctaggCgcgcattgcggtcttccatg	6	11	11	13	3	1	1	0	1	1	0	3	1	3	1	3	3	1	2	3	3	1	5			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr19:54314476C>T	uc002qcj.4	-	2	657	c.437G>A	c.(436-438)cGc>cAc	p.R146H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R146H|NLRP12_uc002qci.4_Missense_Mutation_p.R146H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R146H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	146					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.R146L(2)|p.R146H(2)|p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCTAGGCGCGCATTGCG	0.567													T	54314476	C	T	54314476	3	4	62	1	0	0	0	0	1	0	0	0	10550	768	27	1	2876	1	NLRP12	19	54314476	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	5060648	54314476	4814507	80	4046											
C20orf196	149840	broad.mit.edu	37	chr20	5843987	5843987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttacagaggcattccaggGacacccacttctacccactg	10	9	7	15	0	2	1	0	0	2	1	3	2	3	2	3	2	2	1	3	2	2	4			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:5843987G>T	uc002wmf.3	+	2	583	c.496G>T	c.(496-498)Gac>Tac	p.D166Y		NM_152504	NP_689717	Q8IYI0	CT196_HUMAN	Homo sapiens chromosome 20 open reading frame 196 (C20orf196), mRNA.	166										endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	9						GCATTCCAGGGACACCCACTT	0.512													T	5843987	G	T	5843987	3	4	62	1	0	0	0	0	1	0	0	0	2122	1174	41	4	502	4	C20orf196	20	5843987	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		5843987	57181533	81	4047											
DLGAP4	22839	broad.mit.edu	37	chr20	35060659	35060659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggaggacggcaagggccGgagggccaaaagcaaggagc	13	1	18	9	2	0	0	0	0	0	0	0	4	0	4	2	7	2	2	2	7	4	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:35060659G>A	uc002xff.3	+	2	974	c.539G>A	c.(538-540)cGg>cAg	p.R180Q	DLGAP4_uc010zvp.2_Missense_Mutation_p.R180Q	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	180					cell-cell signaling	membrane	protein binding	p.R180W(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				GGCAAGGGCCGGAGGGCCAAA	0.647													A	35060659	G	A	35060659	3	1	62	1	0	0	0	0	1	0	0	0	4601	1116	39	1	541	1	DLGAP4	20	35060659	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	29216672	35060659	27964861	82	4048											
NFATC2	4773	broad.mit.edu	37	chr20	50133367	50133367	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagctttgacagcccctcGgctgccttctgtctcatagt	5	13	10	13	1	2	1	1	1	2	0	4	2	2	2	3	2	3	2	3	2	1	3			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:50133367G>A	uc002xwd.3	-	2	1508	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	NFATC2_uc002xwc.3_Nonsense_Mutation_p.R430*|NFATC2_uc010zyv.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyw.2_Nonsense_Mutation_p.R211*|NFATC2_uc002xwe.3_Nonsense_Mutation_p.R410*|NFATC2_uc010zyx.2_Nonsense_Mutation_p.R410*|NFATC2_uc010zyy.2_Nonsense_Mutation_p.R211*|NFATC2_uc010zyz.2_Nonsense_Mutation_p.R211*	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	430	RHD.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACAGCCCCTCGGCTGCCTTCT	0.557													A	50133367	G	A	50133367	4	1	62	1	0	0	0	0	0	1	0	0	10438	1124	39	1	1569	1	NFATC2	20	50133367	Nonsense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	15072708	50133367	12892153	83	4049											
COL20A1	57642	broad.mit.edu	37	chr20	61943349	61943349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctgggagggtgccccgaGgcctgtgcgcctggtcaggg	3	8	19	11	2	2	0	1	0	1	0	2	2	2	1	4	5	2	1	4	5	0	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr20:61943349G>A	uc011aau.2	+	13	1845	c.1745G>A	c.(1744-1746)aGg>aAg	p.R582K	COL20A1_uc011aav.2_Missense_Mutation_p.R403K	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	582	Fibronectin type-III 4.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGTGCCCCGAGGCCTGTGCGC	0.682													A	61943349	G	A	61943349	3	1	62	1	0	0	0	0	1	0	0	0	3710	1000	35	2	1795	2	COL20A1	20	61943349	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08	11809982	61943349	1082171	84	4050											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066409	46066409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtctgtctgctccagcGcttactccgactcctggcag	5	11	9	16	2	2	0	0	0	2	0	5	1	5	0	4	1	3	3	4	1	1	1			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46066409G>A	uc002zfr.4	+	0	79	c.34G>A	c.(34-36)Gct>Act	p.A12T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	12						keratin filament		p.S11S(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CTGCTCCAGCGCTTACTCCGA	0.667													A	46066409	G	A	46066409	3	1	62	1	0	0	0	0	1	0	0	0	8565	1087	38	1	36	1	KRTAP10-11	21	46066409	Missense_Mutation	SNP	G	TCGA-06-0747-01A-01W-0348-08		46066409	2063486	85	4051											
SLC19A1	6573	broad.mit.edu	37	chr21	46950811	46950811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcctgcgtggccgtgaCgcccgcgatgagcagcttgg	4	6	15	16	6	0	2	0	2	0	0	0	3	0	2	5	2	3	2	5	2	0	1	rs142899279		TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr21:46950811C>T	uc002zhl.2	-	3	1177	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	SLC19A1_uc010gpy.1_Missense_Mutation_p.V342I|SLC19A1_uc011aft.2_Missense_Mutation_p.V302I|SLC19A1_uc002zhm.2_Missense_Mutation_p.V342I|SLC19A1_uc010gpz.2_Missense_Mutation_p.V221I	NM_194255	NP_919231	P41440	S19A1_HUMAN	Homo sapiens solute carrier family 19 (folate transporter), member 1 (SLC19A1), transcript variant 1, mRNA.	342					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GTGGCCGTGACGCCCGCGATG	0.697													T	46950811	C	T	46950811	3	4	62	1	0	0	0	0	1	0	0	0	14522	536	19	1	763	1	SLC19A1	21	46950811	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	884402	46950811	1179084	86	4052											
CCT8L2	150160	broad.mit.edu	37	chr22	17073274	17073274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccaggaacttctgcCggccgtgggggccatagcaa	8	7	14	12	2	2	0	1	0	1	0	2	1	2	1	4	5	3	1	4	5	3	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:17073274C>T	uc002zlp.1	-	0	427	c.167G>A	c.(166-168)cGg>cAg	p.R56Q		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	56					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.G55S(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAACTTCTGCCGGCCGTGGGG	0.642													T	17073274	C	T	17073274	3	4	62	1	0	0	0	0	1	0	0	0	2991	652	23	1	1510	1	CCT8L2	22	17073274	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08		17073274	34231292	87	4053											
GNB1L	54584	broad.mit.edu	37	chr22	19799872	19799872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccccggccaggatgctgCtccggcagaagcccacactc	7	4	12	18	2	0	1	0	0	0	1	2	2	1	2	5	4	3	3	5	4	1	0			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:19799872C>T	uc002zqf.1	-	4	590	c.353G>A	c.(352-354)aGc>aAc	p.S118N		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	118					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular		p.R117W(1)		breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CAGGATGCTGCTCCGGCAGAA	0.692													T	19799872	C	T	19799872	3	4	62	1	0	0	0	0	1	0	0	0	6572	797	28	2	646	2	GNB1L	22	19799872	Missense_Mutation	SNP	C	TCGA-06-0747-01A-01W-0348-08	2726598	19799872	31504694	88	4054											
SYN3	8224	broad.mit.edu	37	chr22	33402361	33402361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgggcatcatcgatcAccaacaggatcctgggtctt	9	11	10	11	1	3	0	2	0	1	0	5	2	4	1	2	3	1	2	2	3	2	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chr22:33402361A>G	uc003amx.3	-	0	449	c.287T>C	c.(286-288)gTg>gCg	p.V96A	SYN3_uc003amy.3_Missense_Mutation_p.V96A|SYN3_uc003amz.3_Missense_Mutation_p.V96A	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	96	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ATCATCGATCACCAACAGGAT	0.547													G	33402361	A	G	33402361	3	3	62	1	0	0	0	0	1	0	0	0	15539	159	6	3	1507	3	SYN3	22	33402361	Missense_Mutation	SNP	A	TCGA-06-0747-01A-01W-0348-08	13602489	33402361	17902205	89	4055											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605524	5605524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacagaccattgttctCtgccacagccctccagtgac	9	9	8	15	0	1	3	0	2	1	1	3	3	2	3	4	0	2	1	4	0	0	2			TCGA-06-0747-01A-01W-0348-08	TCGA-06-0747-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7773738f-f5dd-48ae-870c-aa89aea77450	edc2c7dd-acde-4bbc-ae3a-4f3ccdcf712d	g.chrY:5605524C>A	uc004fqo.3	+	4	4298	c.3564C>A	c.(3562-3564)ctC>ctA	p.L1188L	PCDH11Y_uc022ciy.1_5'Flank	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1188					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CCATTGTTCTCTGCCACAGCC	0.582													A	5605524	C	A	5605524	2	1	62	1	0	0	0	0	0	0	0	1	11585	900	32	4		4	PCDH11Y	24	5605524	Silent	SNP	C	TCGA-06-0747-01A-01W-0348-08		5605524	53768042	90	4056											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17990973	17990973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacctggagagccctccCgtgtgcctgactgtggggcc	4	8	16	13	1	0	2	0	1	0	1	1	4	1	3	5	4	2	0	5	4	0	0			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:17990973C>T	uc001ban.3	+	25	3051	c.2892C>T	c.(2890-2892)ccC>ccT	p.P964P	ARHGEF10L_uc009vpe.1_Silent_p.P925P|ARHGEF10L_uc001bao.3_Silent_p.P925P|ARHGEF10L_uc001bap.3_Silent_p.P920P|ARHGEF10L_uc001baq.3_Silent_p.P725P|ARHGEF10L_uc010ocs.2_Silent_p.P737P|ARHGEF10L_uc001bar.3_Silent_p.P667P|ARHGEF10L_uc009vpf.3_Non-coding_Transcript	NM_018125	NP_060595	Q9HCE6	ARGAL_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10-like (ARHGEF10L), transcript variant 1, mRNA.	964					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	p.P964A(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGAGCCCTCCCGTGTGCCTGA	0.692													T	17990973	C	T	17990973	2	4	63	1	0	0	0	0	0	0	0	1	898	639	23	1		1	ARHGEF10L	1	17990973	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		17990973	231259648	1	4057											
FLG	2312	broad.mit.edu	37	chr1	152276886	152276886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatctcctgattgttcGtcattacgagtttgtctgct	6	16	9	10	2	3	1	1	1	2	0	5	3	3	1	2	0	3	3	2	0	1	4	rs144901359		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152276886G>A	uc001ezu.1	-	2	10512	c.10476C>T	c.(10474-10476)gaC>gaT	p.D3492D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3492	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.D3492Y(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGATTGTTCGTCATTACGAG	0.567									Ichthyosis				A	152276886	G	A	152276886	2	1	63	1	0	0	0	0	0	0	0	1	5971	1136	40	1		1	FLG	1	152276886	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	134285913	152276886	96973735	2	4058											
LCE2C	353140	broad.mit.edu	37	chr1	152648777	152648777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgactgctgtgagagtgaaCcttctgggggctctggctgc	5	10	15	11	1	2	2	0	2	2	1	2	4	2	2	2	3	3	3	2	3	1	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:152648777C>A	uc021ozc.1	+	0	286	c.286C>A	c.(286-288)Cct>Act	p.P96T	LCE2C_uc001fah.3_Missense_Mutation_p.P96T	NM_178429	NP_848516	Q5TA81	LCE2C_HUMAN	Homo sapiens late cornified envelope 2C (LCE2C), mRNA.	96	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGAGTGAACCTTCTGGGGG	0.662													A	152648777	C	A	152648777	3	1	63	1	0	0	0	0	1	0	0	0	8726	507	18	4	288	4	LCE2C	1	152648777	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	371891	152648777	96601844	3	4059											
NUP210L	91181	broad.mit.edu	37	chr1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggatgatttccaattcGgaatgtgagaacctttaagg	12	12	10	7	1	0	2	0	2	0	1	2	5	1	4	3	3	1	0	3	3	4	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:154062058G>A	uc001fdw.3	-	15	2272	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423													A	154062058	G	A	154062058	4	1	63	1	0	0	0	0	0	1	0	0	10837	1124	39	1	3566	1	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	1413281	154062058	95188563	4	4060											
ARHGAP30	257106	broad.mit.edu	37	chr1	161023102	161023102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgaggatgaactccaCgacgatggattgtacccgca	10	9	13	9	3	0	2	0	2	0	0	1	6	1	4	2	2	2	2	2	2	2	2	rs149577194		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:161023102C>T	uc001fxl.3	-	5	956	c.610G>A	c.(610-612)Gtg>Atg	p.V204M	ARHGAP30_uc001fxk.3_Missense_Mutation_p.V204M|ARHGAP30_uc001fxm.3_Missense_Mutation_p.V50M|ARHGAP30_uc009wtx.3_5'UTR|ARHGAP30_uc001fxn.1_Missense_Mutation_p.V50M	NM_001025598	NP_001020769	Q7Z6I6	RHG30_HUMAN	Homo sapiens Rho GTPase activating protein 30 (ARHGAP30), transcript variant 1, mRNA.	204	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			ATGAACTCCACGACGATGGAT	0.562													T	161023102	C	T	161023102	3	4	63	1	0	0	0	0	1	0	0	0	882	536	19	1	2723	1	ARHGAP30	1	161023102	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	6961044	161023102	88227519	5	4061											
NLRP3	114548	broad.mit.edu	37	chr1	247607348	247607348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactaatcagaatctcaCgcacctttacctgcgaggca	12	8	7	14	2	2	1	2	0	1	1	3	2	2	1	2	1	3	3	2	1	3	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr1:247607348C>T	uc001icr.3	+	8	2882	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	NLRP3_uc001ics.3_Missense_Mutation_p.T858M|NLRP3_uc001icu.3_Missense_Mutation_p.T915M|NLRP3_uc001icw.3_Missense_Mutation_p.T858M|NLRP3_uc001icv.3_Missense_Mutation_p.T801M|NLRP3_uc010pyw.2_Missense_Mutation_p.T893M	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	915					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.T915K(4)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CAGAATCTCACGCACCTTTAC	0.512													T	247607348	C	T	247607348	3	4	63	1	0	0	0	0	1	0	0	0	10554	536	19	1	2770	1	NLRP3	1	247607348	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	86584246	247607348	1643273	6	4062											
TAF1B	9014	broad.mit.edu	37	chr2	9994457	9994457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcccttccaccttagaaCgatgttttacataatttttg	10	18	4	9	1	0	1	0	0	0	1	2	2	2	1	3	0	2	1	3	0	4	8			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:9994457C>T	uc002qzz.3	+	4	406	c.306C>T	c.(304-306)aaC>aaT	p.N102N	TAF1B_uc010exc.2_Silent_p.N102N|TAF1B_uc002qzy.4_Silent_p.N102N|TAF1B_uc010yja.2_5'UTR|TAF1B_uc010exd.3_5'UTR	NM_005680	NP_005671	Q53T94	TAF1B_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa (TAF1B), mRNA.	102					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CACCTTAGAACGATGTTTTAC	0.408													T	9994457	C	T	9994457	2	4	63	1	0	0	0	0	0	0	0	1	15617	535	19	1		1	TAF1B	2	9994457	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		9994457	233204916	7	4063											
OTOF	9381	broad.mit.edu	37	chr2	26705441	26705441	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggggctcatagctgctcTtctgcactgaagtcttgccc	7	11	10	13	0	4	1	1	1	3	0	4	1	4	1	1	2	4	4	1	2	2	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:26705441T>C	uc002rhk.3	-	13	1539	c.1412A>G	c.(1411-1413)aAg>aGg	p.K471R		NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	471	C2 2.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	p.Q470*(1)		NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ATAGCTGCTCTTCTGCACTGA	0.577													C	26705441	T	C	26705441	3	2	63	1	0	0	0	0	1	0	0	0	11379	1609	56	3	5042	3	OTOF	2	26705441	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	16710984	26705441	216493932	8	4064											
BIRC6	57448	broad.mit.edu	37	chr2	32695356	32695356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccacagttacccatgcaTaggaggacagaaggtattaa	15	7	10	9	0	0	1	0	0	0	1	0	3	0	3	2	3	3	3	2	3	5	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:32695356T>A	uc010ezu.3	+	30	6602	c.6468T>A	c.(6466-6468)caT>caA	p.H2156Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2156					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TACCCATGCATAGGAGGACAG	0.318													A	32695356	T	A	32695356	3	1	63	1	0	0	0	0	1	0	0	0	1444	1403	49	5	6590	5	BIRC6	2	32695356	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	5989915	32695356	210504017	9	4065											
TET3	200424	broad.mit.edu	37	chr2	74275488	74275489	+	Frame_Shift_Del	DEL	AC	AC	-																															acccaccaagagtctgctggAcacacctgccaagagagccc																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:74275488_74275489delAC	uc002skb.4	+	0	2039_2040	c.2039_2040delAC	c.(2038-2040)gacfs	p.D680fs	TET3_uc010fez.2_Frame_Shift_Del_p.D680fs	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	680							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGTCTGCTGGACACACCTGCCA	0.604													-	74275489	AC	-	74275488	7	5	63	1	0	1	0	1	0	0	0	0	15871	275	10	0	2041	0	TET3	2	74275488	Frame_Shift_Del	DEL	AC	TCGA-06-0749-01A-01W-0348-08	41580132	74275488	168923885	10	4066											
POTEE	445582	broad.mit.edu	37	chr2	132021710	132021710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcatgaagatcctcacCgagcgtggctataggttcac	10	10	9	12	2	3	2	3	1	0	1	4	3	4	2	3	2	2	2	3	2	4	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:132021710C>T	uc002tsn.2	+	14	2734	c.2682C>T	c.(2680-2682)acC>acT	p.T894T	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_Silent_p.T494T|POTEE_uc002tsl.2_Silent_p.T476T|POTEE_uc010fmy.1_Silent_p.T358T	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	894	Actin-like.						ATP binding										AGATCCTCACCGAGCGTGGCT	0.587													T	132021710	C	T	132021710	2	4	63	1	0	0	0	0	0	0	0	1	12341	639	23	1		1	POTEE	2	132021710	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	57746222	132021710	111177663	11	4067											
MYO1B	4430	broad.mit.edu	37	chr2	192275792	192275792	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctcatatctcacagTgtaaaaaatacagggaccaa	15	12	5	9	0	3	0	2	0	3	0	5	1	3	1	1	1	1	1	1	1	6	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr2:192275792T>C	uc010fsg.2	+	27	3022	c.2767_splice	c.e27-1	p.C923_splice	MYO1B_uc002usq.2_Splice_Site_p.C865_splice|MYO1B_uc002usr.2_Splice_Site_p.C923_splice|MYO1B_uc002usu.2_Splice_Site_p.C168_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	923						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			TATCTCACAGTGTAAAAAATA	0.308													C	192275792	T	C	192275792	3	2	63	1	0	0	0	0	1	0	0	0	10145	1710	59	3	2869	3	MYO1B	2	192275792	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	60254082	192275792	50923581	12	4068											
FGD5	152273	broad.mit.edu	37	chr3	14862751	14862751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctcctccctcatctttTatagagatggcaagaggaaa	11	10	7	13	0	2	2	1	0	1	2	4	4	4	3	4	2	0	1	4	2	4	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:14862751T>A	uc003bzc.3	+	0	2283	c.2173T>A	c.(2173-2175)Tat>Aat	p.Y725N	FGD5_uc011avk.2_Missense_Mutation_p.Y725N	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	725					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTCATCTTTTATAGAGATGG	0.577													A	14862751	T	A	14862751	3	1	63	1	0	0	0	0	1	0	0	0	5885	1754	61	5	2175	5	FGD5	3	14862751	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08		14862751	183159679	13	4069											
DAG1	1605	broad.mit.edu	37	chr3	49568839	49568839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtggtgggttggcacAtcgccaataagaagccccct	9	8	11	13	1	0	1	0	0	0	1	1	1	0	1	4	3	1	2	4	3	3	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:49568839A>G	uc021wxz.1	+	2	1364	c.895A>G	c.(895-897)Atc>Gtc	p.I299V	DAG1_uc021wya.1_Missense_Mutation_p.I299V|DAG1_uc021wyb.1_Missense_Mutation_p.I299V|DAG1_uc021wyc.1_Missense_Mutation_p.I299V|DAG1_uc021wyd.1_Missense_Mutation_p.I299V|DAG1_uc021wye.1_Missense_Mutation_p.I299V|DAG1_uc021wyf.1_Missense_Mutation_p.I299V|DAG1_uc021wyg.1_Missense_Mutation_p.I299V|DAG1_uc021wyh.1_Missense_Mutation_p.I299V|DAG1_uc021wyi.1_Missense_Mutation_p.I299V|DAG1_uc021wyj.1_Missense_Mutation_p.I299V|DAG1_uc021wyk.1_Missense_Mutation_p.I299V|DAG1_uc003cxc.4_Missense_Mutation_p.I299V	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	299	Required for laminin recognition.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGGTTGGCACATCGCCAATAA	0.597													G	49568839	A	G	49568839	3	3	63	1	0	0	0	0	1	0	0	0	4259	217	8	3	901	3	DAG1	3	49568839	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08	34706088	49568839	148453591	14	4070											
CASR	846	broad.mit.edu	37	chr3	121980530	121980530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaattgcagctgatgaCgactatgggcggccggggat	9	7	16	9	3	0	2	0	2	0	0	0	4	0	3	1	5	2	3	1	5	2	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:121980530C>T	uc003eew.4	+	3	1086	c.648C>T	c.(646-648)gaC>gaT	p.D216D	CASR_uc003eev.4_Silent_p.D216D	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	216					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	p.D216D(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAGCTGATGACGACTATGGGC	0.537													T	121980530	C	T	121980530	2	4	63	1	0	0	0	0	0	0	0	1	2708	535	19	1		1	CASR	3	121980530	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	72411691	121980530	76041900	15	4071											
ADCY5	111	broad.mit.edu	37	chr3	123038564	123038564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaggtcaggaggaacttgCggacgtgctcagaccgaagc	11	6	15	9	3	2	2	2	1	0	1	2	6	2	5	1	4	4	1	1	4	3	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:123038564C>T	uc003egh.2	-	9	2213	c.2213G>A	c.(2212-2214)cGc>cAc	p.R738H	ADCY5_uc021xdd.1_Missense_Mutation_p.R388H|ADCY5_uc003egg.2_Missense_Mutation_p.R371H|ADCY5_uc003egi.1_Missense_Mutation_p.R297H	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	738					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGAACTTGCGGACGTGCTC	0.587													T	123038564	C	T	123038564	3	4	63	1	0	0	0	0	1	0	0	0	297	768	27	1	1620	1	ADCY5	3	123038564	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	1058034	123038564	74983866	16	4072											
PIGZ	80235	broad.mit.edu	37	chr3	196675037	196675037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagggtttgtggctccaCgagtgccccagaggtagagg	9	7	15	10	1	0	2	0	0	0	2	1	3	1	2	4	4	2	3	4	4	2	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr3:196675037C>T	uc003fxh.3	-	2	878	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_025163	NP_079439	Q86VD9	PIGZ_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class Z (PIGZ), mRNA.	244					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		TGTGGCTCCACGAGTGCCCCA	0.637													T	196675037	C	T	196675037	3	4	63	1	0	0	0	0	1	0	0	0	11982	536	19	1	1012	1	PIGZ	3	196675037	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	73636473	196675037	1347393	17	4073											
ZNF718	255403	broad.mit.edu	37	chr4	155414	155414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaaacccttctcatgCgaagaatgtggcaatgtctt	12	10	11	8	1	2	2	1	0	2	2	3	5	2	3	1	2	2	1	1	2	4	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:155414C>T	uc003fzw.4	+	1	867	c.278C>T	c.(277-279)gCg>gTg	p.A93V	ZNF718_uc003fzt.4_Silent_p.C313C|ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CCTTCTCATGCGAAGAATGTG	0.373													T	155414	C	T	155414	2	4	63	1	0	0	0	0	0	0	0	1	18221	776	27	1		1	ZNF718	4	155414	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		155414	190998862	18	4074											
RBM47	54502	broad.mit.edu	37	chr4	40440359	40440359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttgtcggccgcgctggcGtagacgatcacgtccagcac	7	8	12	14	6	2	1	1	0	1	1	4	2	3	1	2	2	1	3	2	2	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:40440359G>A	uc003gvc.2	-	3	1262	c.552C>T	c.(550-552)taC>taT	p.Y184Y	RBM47_uc003gvd.2_Silent_p.Y184Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y146Y|RBM47_uc003gvg.1_Silent_p.Y184Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	184	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CCGCGCTGGCGTAGACGATCA	0.647													A	40440359	G	A	40440359	2	1	63	1	0	0	0	0	0	0	0	1	13229	1140	40	1		1	RBM47	4	40440359	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	40284945	40440359	150713917	19	4075											
ALB	213	broad.mit.edu	37	chr4	74283995	74283995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgcagatatatgcacacTttctgagaaggagagacaaa	16	8	9	8	0	1	3	0	1	1	3	1	6	1	4	1	1	2	2	1	1	4	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:74283995T>A	uc003hgs.4	+	11	1692	c.1619T>A	c.(1618-1620)cTt>cAt	p.L540H	ALB_uc011cbe.2_Missense_Mutation_p.L219H|ALB_uc003hgw.4_Missense_Mutation_p.L348H|ALB_uc011cbf.2_Missense_Mutation_p.L430H	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	540	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	ATATGCACACTTTCTGAGAAG	0.403													A	74283995	T	A	74283995	3	1	63	1	0	0	0	0	1	0	0	0	486	1609	56	5	1665	5	ALB	4	74283995	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	33843636	74283995	116870281	20	4076											
PPEF2	5470	broad.mit.edu	37	chr4	76793227	76793227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttagcttgatactgcaCaatatgtggggtcagggctg	8	13	13	7	0	1	1	1	1	0	0	1	1	1	1	0	3	3	4	0	3	4	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr4:76793227C>T	uc003hix.3	-	12	1957	c.1600G>A	c.(1600-1602)Gtg>Atg	p.V534M	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V534M	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	534	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGATACTGCACAATATGTGGG	0.428													T	76793227	C	T	76793227	3	4	63	1	0	0	0	0	1	0	0	0	12385	478	17	2	681	2	PPEF2	4	76793227	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	2509232	76793227	114361049	21	4077											
ADAMTS12	81792	broad.mit.edu	37	chr5	33596125	33596125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagctttcaccatcccGcggcccttctttatgcaatg	8	13	7	13	2	2	0	1	0	1	0	3	0	3	0	3	1	2	3	3	1	4	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:33596125G>A	uc003jia.1	-	16	2731	c.2568C>T	c.(2566-2568)cgC>cgT	p.R856R	ADAMTS12_uc010iuq.1_Silent_p.R771R	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	856	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCACCATCCCGCGGCCCTTCT	0.512										HNSCC(64;0.19)			A	33596125	G	A	33596125	2	1	63	1	0	0	0	0	0	0	0	1	257	1074	38	1		1	ADAMTS12	5	33596125	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08		33596125	147319135	22	4078											
PCDHAC2	56139	broad.mit.edu	37	chr5	140237259	140237259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgatgggggcgtgccGcctctgggcagcaacttgac	5	6	17	13	5	1	1	0	1	1	0	1	2	1	1	2	3	3	2	2	3	1	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140237259G>A	uc003lhx.2	+	0	1626	c.1626G>A	c.(1624-1626)ccG>ccA	p.P542P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc011dad.2_Silent_p.P542P	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	557	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCGTGCCGCCTCTGGGCA	0.697													A	140237259	G	A	140237259	2	1	63	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140237259	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	106641134	140237259	40678001	23	4079											
PCDHB5	26167	broad.mit.edu	37	chr5	140517047	140517052	+	In_Frame_Del	DEL	GGCCCA	GGCCCA	-																															ccgctgccggaggcggccccGgcccaggcccaggccgactc																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr5:140517047_140517052delGGCCCA	uc003liq.3	+	0	2248_2253	c.2031_2036delGGCCCA	c.(2029-2037)ccggcccag>ccg	p.AQ680del		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCGGCCCCGGCCCAGGCCCAGGCC	0.694													-	140517052	GGCCCA	-	140517047	7	5	63	1	0	1	0	1	0	0	0	0	11621	1103	39	0	2033	0	PCDHB5	5	140517047	In_Frame_Del	DEL	GGCCCA	TCGA-06-0749-01A-01W-0348-08	279788	140517047	40398213	24	4080											
RIPK1	8737	broad.mit.edu	37	chr6	3104537	3104537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcagtaccttcaagcCggtcaaattcaggtaaatta	12	11	10	8	1	3	0	3	0	0	0	3	0	3	0	2	3	2	3	2	3	6	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:3104537C>T	uc010jni.3	+	7	1226	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	RIPK1_uc003muv.4_Missense_Mutation_p.R169W|RIPK1_uc003mux.3_Missense_Mutation_p.R332W|RIPK1_uc011dhs.2_Missense_Mutation_p.R286W	NM_003804	NP_003795	Q13546	RIPK1_HUMAN	Homo sapiens receptor (TNFRSF)-interacting serine-threonine kinase 1 (RIPK1), mRNA.	332	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				ACCTTCAAGCCGGTCAAATTC	0.348													T	3104537	C	T	3104537	3	4	63	1	0	0	0	0	1	0	0	0	13471	643	23	1	1020	1	RIPK1	6	3104537	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		3104537	168010530	25	4081											
OR2H1	26716	broad.mit.edu	37	chr6	29430405	29430405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccttcacttaaccctctcGtatacaccctgaggaacaag	11	10	5	15	1	2	1	1	1	1	0	4	2	3	2	3	1	3	1	3	1	5	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29430405G>A	uc003nmi.3	+	2	1302	c.859G>A	c.(859-861)Gta>Ata	p.V287I	OR2H1_uc003nmj.1_Missense_Mutation_p.V287I|OR2H1_uc010jri.2_Missense_Mutation_p.V209I|OR2H1_uc021ytr.1_Missense_Mutation_p.V287I	NM_030883	NP_112145	Q9GZK4	OR2H1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily H, member 1 (OR2H1), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(12)	17						TAACCCTCTCGTATACACCCT	0.493													A	29430405	G	A	29430405	3	1	63	1	0	0	0	0	1	0	0	0	11077	1145	40	1	861	1	OR2H1	6	29430405	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	26325868	29430405	141684662	26	4082											
GABBR1	2550	broad.mit.edu	37	chr6	29599228	29599228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgttggccaggcacttgcgGaccttgggccccaccacctc	5	7	11	18	2	0	0	0	0	0	0	1	1	0	1	7	4	1	2	7	4	0	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr6:29599228G>A	uc003nmt.4	-	2	570	c.234C>T	c.(232-234)gtC>gtT	p.V78V	GABBR1_uc003nmu.4_Silent_p.V78V|GABBR1_uc011dlr.2_5'UTR|GABBR1_uc011dls.1_Silent_p.V78V	NM_001470	NP_001461	Q9UBS5	GABR1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 1 (GABBR1), transcript variant 1, mRNA.	78	Sushi 1.				gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GGCACTTGCGGACCTTGGGCC	0.602													A	29599228	G	A	29599228	2	1	63	1	0	0	0	0	0	0	0	1	6207	1161	41	2		2	GABBR1	6	29599228	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	168823	29599228	141515839	27	4083											
TNRC18	84629	broad.mit.edu	37	chr7	5417608	5417608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcagccgttcctcccGgtgtctggcccggtcgtcca	3	8	12	18	5	1	0	0	0	1	0	5	1	4	0	6	3	2	2	6	3	0	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:5417608G>A	uc003soi.4	-	5	2549	c.2200C>T	c.(2200-2202)Cgg>Tgg	p.R734W		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	734							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGTTCCTCCCGGTGTCTGGCC	0.682													A	5417608	G	A	5417608	3	1	63	1	0	0	0	0	1	0	0	0	16439	1115	39	1	6806	1	TNRC18	7	5417608	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		5417608	153721055	28	4084											
RAMP3	10268	broad.mit.edu	37	chr7	45216987	45216987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaggctttcgcagaCatgatgggcaaggtggacgt	9	9	17	6	2	0	2	0	1	0	1	1	4	0	4	0	5	0	3	0	5	2	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:45216987C>T	uc003tnb.3	+	1	199	c.138C>T	c.(136-138)gaC>gaT	p.D46D		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	46					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTTTCGCAGACATGATGGGCA	0.607													T	45216987	C	T	45216987	2	4	63	1	0	0	0	0	0	0	0	1	13111	477	17	2		2	RAMP3	7	45216987	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	39799379	45216987	113921676	29	4085											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	63	1	0	0	0	0	1	0	0	0	5006	1319	46	2	891	2	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	10004834	55221821	103916842	30	4086											
EGFR	1956	broad.mit.edu	37	chr7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtggacaacccccacGtgtgccgcctgctgggcatc	6	6	12	17	3	0	0	0	0	0	0	1	1	0	1	5	2	4	2	5	2	1	0			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:55249022G>A	uc003tqk.3	+	19	2566	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR_uc022adm.1_Missense_Mutation_p.V774M|EGFR_uc010kzg.2_Missense_Mutation_p.V729M|EGFR_uc022adn.1_Missense_Mutation_p.V729M|EGFR_uc011kco.2_Missense_Mutation_p.V721M|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.V9M	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(21)|p.P772_H773insPR(11)|p.V774M(9)|p.H773R(9)|p.H773_V774insH(5)|p.H773_V774insPH(4)|p.V774_C775insHV(4)|p.H773_V774insQ(2)|p.P772_H773insYNP(2)|p.H773_V774insGNPH(2)|p.P772_H773insX(2)|p.H773L(2)|p.V774L(2)|p.H773Y(2)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.P772_H773insV(1)|p.V774del(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.P772_H773insHV(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.H773_V774>LM(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACCCCCACGTGTGCCGCCT	0.632		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55249022	G	A	55249022	3	1	63	1	0	0	0	0	1	0	0	0	5006	1145	40	1	2662	1	EGFR	7	55249022	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	27201	55249022	103889641	31	4087											
PCLO	27445	broad.mit.edu	37	chr7	82582186	82582186	+	Frame_Shift_Del	DEL	A	A	-																															ctctggaggaattgttatggAaatgctgctgagaccaacac																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:82582186delA	uc003uhx.2	-	4	8372	c.8083delT	c.(8083-8085)tccfs	p.S2695fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.S2695fs|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2626					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ATTGTTATGGAAATGCTGCTG	0.413													-	82582186	A	-	82582186	7	5	63	1	0	1	0	1	0	0	0	0	11659	246	9	0	7446	0	PCLO	7	82582186	Frame_Shift_Del	DEL	A	TCGA-06-0749-01A-01W-0348-08	27333164	82582186	76556477	32	4088											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97935824	97935824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacgacgacgggaaccaacCcctcctaccggcaaagaggg	12	3	12	14	4	0	1	0	0	0	1	1	4	1	2	5	3	4	2	5	3	5	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:97935824C>G	uc003upj.3	-	10	1431	c.1168G>C	c.(1168-1170)Ggt>Cgt	p.G390R	hCG_2023280_uc003upk.1_5'Flank	NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	390	SH3.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGAACCAACCCCTCCTACCG	0.572													G	97935824	C	G	97935824	3	3	63	1	0	0	0	0	1	0	0	0	1307	623	22	4	383	4	BAIAP2L1	7	97935824	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	15353638	97935824	61202839	33	4089											
MCM7	4176	broad.mit.edu	37	chr7	99694927	99694927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagcccaactacttactgcGaggcgccagtcgatcaatgt	12	8	9	12	3	1	0	1	0	0	0	2	2	1	0	2	1	5	0	2	1	5	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:99694927G>A	uc003usw.1	-	9	1708	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	MCM7_uc003usv.1_Missense_Mutation_p.R224C|MCM7_uc003usx.1_Missense_Mutation_p.R224C	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	400	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	p.R400C(1)|p.R224C(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TACTTACTGCGAGGCGCCAGT	0.512													A	99694927	G	A	99694927	3	1	63	1	0	0	0	0	1	0	0	0	9467	1058	37	1	985	1	MCM7	7	99694927	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	1759103	99694927	59443736	34	4090											
ASZ1	136991	broad.mit.edu	37	chr7	117020042	117020042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccaaattgtatctcttcTacctgtagttctttaagagc	9	17	5	10	0	4	1	0	0	4	1	6	1	4	1	2	0	2	3	2	0	5	8			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:117020042T>C	uc003vjb.2	-	9	1068	c.1005A>G	c.(1003-1005)gtA>gtG	p.V335V	ASZ1_uc011kno.1_Silent_p.V335V|ASZ1_uc011knp.1_Silent_p.V127V	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	335					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			GTATCTCTTCTACCTGTAGTT	0.308													C	117020042	T	C	117020042	2	2	63	1	0	0	0	0	0	0	0	1	1074	1509	53	3		3	ASZ1	7	117020042	Silent	SNP	T	TCGA-06-0749-01A-01W-0348-08	17325115	117020042	42118621	35	4091											
HIPK2	28996	broad.mit.edu	37	chr7	139416214	139416214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacttgcccaaacgtccctCggcccaagaactctaagacc	11	6	6	18	2	1	2	0	0	1	2	3	2	2	2	5	1	3	0	5	1	4	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:139416214C>T	uc003vvf.4	-	1	891	c.620G>A	c.(619-621)cGa>cAa	p.R207Q	HIPK2_uc003vvd.4_Missense_Mutation_p.R207Q	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	207	Interaction with DAXX.|Protein kinase.|Transcriptional corepression (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					AAACGTCCCTCGGCCCAAGAA	0.552													T	139416214	C	T	139416214	3	4	63	1	0	0	0	0	1	0	0	0	7172	884	31	1	3032	1	HIPK2	7	139416214	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	22396172	139416214	19722449	36	4092											
CLCN1	1180	broad.mit.edu	37	chr7	143048733	143048733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtctggggtgcagctccGccctccccttgccagcttcc	4	9	10	18	1	1	0	0	0	1	0	4	0	4	0	6	2	4	3	6	2	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr7:143048733G>A	uc003wcr.1	+	22	2729	c.2642G>A	c.(2641-2643)cGc>cAc	p.R881H	CLCN1_uc011ktc.1_Missense_Mutation_p.R493H	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	881					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.L880L(1)		breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					GTGCAGCTCCGCCCTCCCCTT	0.537													A	143048733	G	A	143048733	3	1	63	1	0	0	0	0	1	0	0	0	3493	1087	38	1	2732	1	CLCN1	7	143048733	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	3632519	143048733	16089930	37	4093											
KCNB2	9312	broad.mit.edu	37	chr8	73848914	73848914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggagggaggctcttgagCgggccaaaaggaacggaagc	14	3	17	7	2	1	1	0	1	1	0	1	5	1	5	1	6	3	1	1	6	5	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:73848914C>T	uc003xzb.3	+	2	1912	c.1324C>T	c.(1324-1326)Cgg>Tgg	p.R442W		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	442					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCTCTTGAGCGGGCCAAAAG	0.443													T	73848914	C	T	73848914	3	4	63	1	0	0	0	0	1	0	0	0	8071	759	27	1	1330	1	KCNB2	8	73848914	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		73848914	72515108	38	4094											
KIFC2	90990	broad.mit.edu	37	chr8	145693119	145693119	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctgaagcagcagcTggaacagcaggaggaggagt	13	3	19	6	0	0	1	0	1	0	0	0	7	0	7	0	6	6	5	0	6	2	0			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr8:145693119T>C	uc003zcz.3	+	5	703	c.638T>C	c.(637-639)cTg>cCg	p.L213P	CYHR1_uc003zcv.2_5'Flank|CYHR1_uc003zcw.2_5'Flank|CYHR1_uc003zcx.2_5'Flank|CYHR1_uc003zcy.2_5'Flank	NM_145754	NP_665697	Q96AC6	KIFC2_HUMAN	Homo sapiens kinesin family member C2 (KIFC2), mRNA.	213	Gln-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AAGCAGCAGCTGGAACAGCAG	0.642											OREG0019057	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	145693119	T	C	145693119	3	2	63	1	0	0	0	0	1	0	0	0	8371	1580	55	3	660	3	KIFC2	8	145693119	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	71844205	145693119	670903	39	4095											
BNC2	54796	broad.mit.edu	37	chr9	16419304	16419304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccactgtcactcgcccCgtcaatgtcatcgagaagaa	10	8	7	16	3	3	2	3	0	0	2	6	3	4	2	4	0	0	0	4	0	3	0	rs143124811	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:16419304C>T	uc003zml.3	-	6	3123	c.2983G>A	c.(2983-2985)Ggg>Agg	p.G995R	BNC2_uc011lmw.2_Missense_Mutation_p.G900R|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.G782R	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TCACTCGCCCCGTCAATGTCA	0.592													T	16419304	C	T	16419304	3	4	63	1	0	0	0	0	1	0	0	0	1481	652	23	1	320	1	BNC2	9	16419304	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		16419304	124794127	40	4096											
TAF1L	138474	broad.mit.edu	37	chr9	32631824	32631824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggttccgcttaagccGcctcagttgctcttgaatcc	5	14	8	14	2	2	1	1	1	1	0	5	1	5	1	5	1	2	4	5	1	2	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr9:32631824G>A	uc003zrg.1	-	0	3844	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1252					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1252W(2)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CGCTTAAGCCGCCTCAGTTGC	0.448													A	32631824	G	A	32631824	3	1	63	1	0	0	0	0	1	0	0	0	15620	1086	38	1	1730	1	TAF1L	9	32631824	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	16212520	32631824	108581607	41	4097											
PTEN	5728	broad.mit.edu	37	chr10	89720738	89720738	+	Frame_Shift_Del	DEL	G	G	-																															tagaaaatggaagtctatgtGatcaagaaatcgatagcatt																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr10:89720738delG	uc001kfb.3	+	7	1921	c.889delG	c.(889-891)gatfs	p.D297fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	297	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.C296fs*1(1)|p.G165_*404del(1)|p.C296fs*11(1)|p.G165_K342del(1)|p.C296*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAGTCTATGTGATCAAGAAAT	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720738	G	-	89720738	7	5	63	1	0	1	0	1	0	0	0	0	12823	1290	45	0	919	0	PTEN	10	89720738	Frame_Shift_Del	DEL	G	TCGA-06-0749-01A-01W-0348-08		89720738	45814009	42	4098											
OR8K3	219473	broad.mit.edu	37	chr11	56086620	56086620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccatattttacaccctgGttatccccatgttgaatccc	8	15	4	14	0	0	1	0	1	0	0	3	1	3	1	5	1	1	2	5	1	4	6			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:56086620G>T	uc010rjf.2	+	0	838	c.838G>T	c.(838-840)Gtt>Ttt	p.V280F		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTACACCCTGGTTATCCCCAT	0.378													T	56086620	G	T	56086620	3	4	63	1	0	0	0	0	1	0	0	0	11320	1261	44	4	840	4	OR8K3	11	56086620	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		56086620	78919896	43	4099											
OR10W1	81341	broad.mit.edu	37	chr11	58034677	58034677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagcagccgagtggatCttgagcagagcagccactat	10	6	13	12	2	1	2	0	1	1	1	1	4	1	3	3	2	5	3	3	2	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:58034677C>A	uc001nmq.1	-	0	1056	c.654G>T	c.(652-654)aaG>aaT	p.K218N		NM_207374	NP_997257	Q8NGF6	O10W1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily W, member 1 (OR10W1), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K218N(4)		kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CCGAGTGGATCTTGAGCAGAG	0.572													A	58034677	C	A	58034677	3	1	63	1	0	0	0	0	1	0	0	0	10997	912	32	4	267	4	OR10W1	11	58034677	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	1948057	58034677	76971839	44	4100											
OR4D5	219875	broad.mit.edu	37	chr11	123811000	123811000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcactgctagtcatgctccGaagccactcacgggagggcc	9	6	12	14	2	2	0	2	0	0	0	3	2	3	1	3	2	4	3	3	2	2	1	rs142766960		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr11:123811000G>A	uc001pzk.1	+	0	677	c.677G>A	c.(676-678)cGa>cAa	p.R226Q		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTCATGCTCCGAAGCCACTCA	0.507													A	123811000	G	A	123811000	3	1	63	1	0	0	0	0	1	0	0	0	11133	1058	37	1	679	1	OR4D5	11	123811000	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	65776323	123811000	11195516	45	4101											
LRIG3	121227	broad.mit.edu	37	chr12	59272793	59272793	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttctgccaggctatctgGggggctgggtgccccacagc	4	9	14	14	0	2	0	0	0	2	0	3	0	3	0	4	5	3	2	4	5	1	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:59272793G>T	uc001sqr.3	-	13	2142	c.1896C>A	c.(1894-1896)ccC>ccA	p.P632P	LRIG3_uc009zqh.3_Silent_p.P572P|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	632	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			AGGCTATCTGGGGGGCTGGGT	0.597			T	ROS1	NSCLC								T	59272793	G	T	59272793	2	4	63	1	0	0	0	0	0	0	0	1	9016	1219	43	4		4	LRIG3	12	59272793	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08		59272793	74579102	46	4102											
NAV3	89795	broad.mit.edu	37	chr12	78582438	78582438	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccttggtctgagctctgActgcattgctagctactgta	7	14	10	10	0	2	2	0	2	2	0	2	2	2	2	1	1	6	5	1	1	4	6			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:78582438A>C	uc001syp.3	+	32	6109	c.5936A>C	c.(5935-5937)gAc>gCc	p.D1979A	NAV3_uc001syo.3_Missense_Mutation_p.D1957A|NAV3_uc010sub.2_Missense_Mutation_p.D1436A|NAV3_uc009zsf.3_Missense_Mutation_p.D788A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1979						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGAGCTCTGACTGCATTGCT	0.388										HNSCC(70;0.22)			C	78582438	A	C	78582438	3	2	63	1	0	0	0	0	1	0	0	0	10261	275	10	5	5996	5	NAV3	12	78582438	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08	19309645	78582438	55269457	47	4103											
PLEKHG7	440107	broad.mit.edu	37	chr12	93148040	93148040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtggaaaagtccatcCgtaagtccctgagataagtg	15	8	11	7	1	0	1	0	1	0	1	3	3	3	2	3	2	0	1	3	2	6	2	rs115752910	by1000genomes	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:93148040C>T	uc001tcj.2	+	6	720	c.490_splice	c.e6+1	p.R164_splice		NM_001004330	NP_001004330	Q6ZR37	PKHG7_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 7 (PLEKHG7), mRNA.	164	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAAGTCCATCCGTAAGTCCCT	0.438													T	93148040	C	T	93148040	3	4	63	1	0	0	0	0	1	0	0	0	12152	666	23	1	508	1	PLEKHG7	12	93148040	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	14565602	93148040	40703855	48	4104											
STAB2	55576	broad.mit.edu	37	chr12	104014256	104014256	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccctagagtgcccaggTggagcggggtcaccctgcaa	8	7	14	12	1	1	1	1	0	0	1	2	3	2	2	3	4	3	1	3	4	2	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:104014256T>G	uc001tjw.3	+	3	528	c.342T>G	c.(340-342)ggT>ggG	p.G114G		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	114	EGF-like 1.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.G114C(1)		NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						AGTGCCCAGGTGGAGCGGGGT	0.493													G	104014256	T	G	104014256	2	3	63	1	0	0	0	0	0	0	0	1	15334	1683	59	5		5	STAB2	12	104014256	Silent	SNP	T	TCGA-06-0749-01A-01W-0348-08	10866216	104014256	29837639	49	4105											
GPR133	283383	broad.mit.edu	37	chr12	131622720	131622720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaaccaaggtctggtcGctcacgagcagctctgcccg	10	6	10	15	3	3	0	1	0	2	0	4	1	3	0	2	2	4	3	2	2	3	0			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr12:131622720G>A	uc010tbm.2	+	24	3130	c.2571G>A	c.(2569-2571)tcG>tcA	p.S857S	GPR133_uc001uit.4_Silent_p.S825S|GPR133_uc009zyo.3_Silent_p.S107S|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	825					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		AGGTCTGGTCGCTCACGAGCA	0.597													A	131622720	G	A	131622720	2	1	63	1	0	0	0	0	0	0	0	1	6697	1074	38	1		1	GPR133	12	131622720	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	27608464	131622720	2229175	50	4106											
FUT8	2530	broad.mit.edu	37	chr14	66028372	66028372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atataggtggtcacttggtaCgagataatgaccatcctgat	12	12	10	7	1	1	3	1	2	0	1	2	4	2	3	2	3	1	1	2	3	4	5			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:66028372C>T	uc001xin.3	+	2	1818	c.91C>T	c.(91-93)Cga>Tga	p.R31*	FUT8_uc001xio.3_Nonsense_Mutation_p.R31*|FUT8_uc010tsp.2_Intron|FUT8_uc001xir.4_Non-coding_Transcript|FUT8_uc001xip.3_Nonsense_Mutation_p.R31*|FUT8_uc001xiq.3_Intron	NM_178155	NP_004471	Q9BYC5	FUT8_HUMAN	Homo sapiens fucosyltransferase 8 (alpha (1,6) fucosyltransferase) (FUT8), transcript variant 1, mRNA.	31					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TCACTTGGTACGAGATAATGA	0.458													T	66028372	C	T	66028372	4	4	63	1	0	0	0	0	0	1	0	0	6162	528	19	1	93	1	FUT8	14	66028372	Nonsense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		66028372	41321168	51	4107											
AK7	122481	broad.mit.edu	37	chr14	96917806	96917806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttaagaatggaagcgctcTttgtgaaggagaattttaat	14	13	10	4	1	1	3	0	1	1	2	1	5	1	4	0	2	1	1	0	2	6	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr14:96917806T>C	uc001yfn.2	+	9	1041	c.997T>C	c.(997-999)Ttt>Ctt	p.F333L		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	333					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GGAAGCGCTCTTTGTGAAGGA	0.368													C	96917806	T	C	96917806	3	2	63	1	0	0	0	0	1	0	0	0	444	1609	56	3	1035	3	AK7	14	96917806	Missense_Mutation	SNP	T	TCGA-06-0749-01A-01W-0348-08	30889434	96917806	10431734	52	4108											
CREBBP	1387	broad.mit.edu	37	chr16	3842056	3842056	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcgtgtgcagttcttcCaatgagagatgatttgtcgt	8	15	11	7	2	1	3	0	2	1	1	4	4	2	3	1	0	1	2	1	0	1	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:3842056C>T	uc002cvv.3	-	4	1460	c.1256G>A	c.(1255-1257)tGg>tAg	p.W419*	CREBBP_uc002cvw.3_Intron	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	419					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		GCAGTTCTTCCAATGAGAGAT	0.428			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3842056	C	T	3842056	4	4	63	1	0	0	0	0	0	1	0	0	3892	595	21	2	6180	2	CREBBP	16	3842056	Nonsense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		3842056	86512697	53	4109											
CIITA	4261	broad.mit.edu	37	chr16	11000852	11000852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcatcctagacggcttCgaggagctggaagcgcaaga	10	7	13	11	3	1	2	1	0	0	2	3	5	2	4	1	3	3	4	1	3	3	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:11000852C>T	uc002daj.4	+	10	1639	c.1506C>T	c.(1504-1506)ttC>ttT	p.F502F	CIITA_uc002dai.4_Silent_p.F501F|CIITA_uc002dak.4_Intron|CIITA_uc002dag.2_Silent_p.F501F|CIITA_uc002dah.2_Silent_p.F453F|CIITA_uc010bup.1_Intron	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	501	NACHT.				interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TAGACGGCTTCGAGGAGCTGG	0.647			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								T	11000852	C	T	11000852	2	4	63	1	0	0	0	0	0	0	0	1	3458	883	31	1		1	CIITA	16	11000852	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	7158796	11000852	79353901	54	4110											
PRKCB	5579	broad.mit.edu	37	chr16	24166139	24166139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccctgcctgggaagccGcccttcctgacccagctcca	5	8	10	18	1	0	1	0	1	0	0	2	2	2	2	7	2	3	1	7	2	1	2	rs141827066		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:24166139G>A	uc002dmd.3	+	9	1397	c.1200G>A	c.(1198-1200)ccG>ccA	p.P400P	PRKCB_uc002dme.3_Silent_p.P400P	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	400	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding	p.P400P(4)		central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGGGAAGCCGCCCTTCCTGA	0.567													A	24166139	G	A	24166139	2	1	63	1	0	0	0	0	0	0	0	1	12594	1074	38	1		1	PRKCB	16	24166139	Silent	SNP	G	TCGA-06-0749-01A-01W-0348-08	13165287	24166139	66188614	55	4111											
LCMT1	51451	broad.mit.edu	37	chr16	25143735	25143735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccctaggatattttgctcGagtccatggtgtcagtcagc	7	12	10	12	1	2	0	2	0	0	0	4	2	3	1	3	2	2	1	3	2	2	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr16:25143735G>A	uc002dnx.1	+	2	376	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	LCMT1_uc002dny.1_Missense_Mutation_p.R73Q	NM_016309	NP_057393	Q9UIC8	LCMT1_HUMAN	Homo sapiens leucine carboxyl methyltransferase 1 (LCMT1), transcript variant 1, mRNA.	73							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TATTTTGCTCGAGTCCATGGT	0.488													A	25143735	G	A	25143735	3	1	63	1	0	0	0	0	1	0	0	0	8737	1058	37	1	228	1	LCMT1	16	25143735	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	977596	25143735	65211018	56	4112											
MYH2	4620	broad.mit.edu	37	chr17	10427836	10427836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaggagctcctgttctgCgatttttctgctcctctctg	4	16	8	13	1	3	0	0	0	3	0	7	2	6	1	3	1	3	3	3	1	0	3	rs147813930		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:10427836C>T	uc010coi.3	-	34	5250	c.5122G>A	c.(5122-5124)Gca>Aca	p.A1708T	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.A1708T|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1708					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.I1707I(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGTTCTGCGATTTTTCTG	0.547													T	10427836	C	T	10427836	3	4	63	1	0	0	0	0	1	0	0	0	10111	768	27	1	727	1	MYH2	17	10427836	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		10427836	70767374	57	4113											
KRT16	3868	broad.mit.edu	37	chr17	39767641	39767641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctcctccttcaggcCttcgatctgcatctccaggt	5	11	9	16	1	3	0	1	0	2	0	7	1	5	0	5	3	2	2	5	3	0	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:39767641C>T	uc002hxg.4	-	2	866	c.727G>A	c.(727-729)Ggc>Agc	p.G243S	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	243	Coil 1B.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				TCCTTCAGGCCTTCGATCTGC	0.642													T	39767641	C	T	39767641	3	4	63	1	0	0	0	0	1	0	0	0	8511	681	24	2	718	2	KRT16	17	39767641	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	29339805	39767641	41427569	58	4114											
KIF2B	84643	broad.mit.edu	37	chr17	51900949	51900949	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataccagaaaccccaactaCgaaatcatgcacatgatcga	18	6	5	12	2	1	2	1	1	0	1	2	4	1	2	3	0	5	1	3	0	6	2			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:51900949C>T	uc002iua.2	+	0	711	c.555C>T	c.(553-555)taC>taT	p.Y185Y	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	185					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACCCCAACTACGAAATCATGC	0.562													T	51900949	C	T	51900949	2	4	63	1	0	0	0	0	0	0	0	1	8356	547	19	1		1	KIF2B	17	51900949	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08	12133308	51900949	29294261	59	4115											
ANKFN1	162282	broad.mit.edu	37	chr17	54452045	54452045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaagagcctcttagcGtcaatgcagctgtagtaacc	10	10	9	12	1	2	1	1	0	1	1	3	1	3	1	3	0	5	5	3	0	5	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr17:54452045G>A	uc002iun.1	+	6	924	c.889G>A	c.(889-891)Gtc>Atc	p.V297I		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	297	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCCTCTTAGCGTCAATGCAGC	0.458													A	54452045	G	A	54452045	3	1	63	1	0	0	0	0	1	0	0	0	625	1145	40	1	915	1	ANKFN1	17	54452045	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08	2551096	54452045	26743165	60	4116											
MC5R	4161	broad.mit.edu	37	chr18	13826256	13826256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcaggggccatcatcgcCggcatctgggctttctgcac	5	9	12	15	3	4	0	2	0	2	0	5	0	4	0	2	4	1	4	2	4	0	1	rs45575841	byFrequency	TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr18:13826256C>T	uc010xaf.2	+	0	714	c.492C>T	c.(490-492)gcC>gcT	p.A164A		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	164					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						CCATCATCGCCGGCATCTGGG	0.572													T	13826256	C	T	13826256	2	4	63	1	0	0	0	0	0	0	0	1	9442	639	23	1		1	MC5R	18	13826256	Silent	SNP	C	TCGA-06-0749-01A-01W-0348-08		13826256	64250992	61	4117											
CYP4F2	8529	broad.mit.edu	37	chr19	15990424	15990424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgcacctcagggtccGgccacacagctgggttgtga	6	6	14	15	2	1	1	1	1	0	0	2	1	2	1	5	4	1	3	5	4	0	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr19:15990424G>A	uc002nbs.1	-	10	1354	c.1304C>T	c.(1303-1305)cCg>cTg	p.P435L	CYP4F2_uc010xot.1_Missense_Mutation_p.P286L	NM_001082	NP_001073	P78329	CP4F2_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 2 (CYP4F2), mRNA.	435					leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding			NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCAGGGTCCGGCCACACAGC	0.567													A	15990424	G	A	15990424	3	1	63	1	0	0	0	0	1	0	0	0	4221	1116	39	1	270	1	CYP4F2	19	15990424	Missense_Mutation	SNP	G	TCGA-06-0749-01A-01W-0348-08		15990424	43138559	62	4118											
MATN4	8785	broad.mit.edu	37	chr20	43929967	43929967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgttgctcacccctgcAgctcctctggtcctgctgga	3	11	13	14	0	2	0	1	0	1	0	4	1	4	1	4	4	4	5	4	4	0	1			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:43929967A>G	uc002xnn.2	-	3	947	c.760T>C	c.(760-762)Tgc>Cgc	p.C254R	MATN4_uc002xnp.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_Missense_Mutation_p.C202R|MATN4_uc002xnr.1_Missense_Mutation_p.C254R	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	295	EGF-like 1; incomplete.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TCACCCCTGCAGCTCCTCTGG	0.587											OREG0025977	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	43929967	A	G	43929967	3	3	63	1	0	0	0	0	1	0	0	0	9411	188	7	3	1013	3	MATN4	20	43929967	Missense_Mutation	SNP	A	TCGA-06-0749-01A-01W-0348-08		43929967	19095553	63	4119											
OPRL1	4987	broad.mit.edu	37	chr20	62724089	62724089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcatggagcccctcttcCccgcgccgttctgggaggtt	3	10	14	14	3	2	0	0	0	2	0	3	2	3	2	5	4	1	3	5	4	0	3	rs148535906		TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr20:62724089C>T	uc002yic.3	+	2	435	c.16C>T	c.(16-18)Ccc>Tcc	p.P6S	OPRL1_uc002yid.3_Missense_Mutation_p.P6S|OPRL1_uc021wgs.1_Missense_Mutation_p.P6S|OPRL1_uc002yif.4_Missense_Mutation_p.P6S	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	6					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GCCCCTCTTCCCCGCGCCGTT	0.632													T	62724089	C	T	62724089	3	4	63	1	0	0	0	0	1	0	0	0	10962	623	22	2	18	2	OPRL1	20	62724089	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	18794122	62724089	301431	64	4120											
KCNJ15	3772	broad.mit.edu	37	chr21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggactctctcactggggCgtttctcttttccctggaat	5	15	10	11	1	3	0	1	0	2	0	6	2	4	2	1	4	0	1	1	4	1	3			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:39671533C>T	uc021wjc.1	+	0	350	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_uc002ywv.3_Missense_Mutation_p.A117V|KCNJ15_uc002yww.3_Missense_Mutation_p.A117V|KCNJ15_uc002ywx.3_Missense_Mutation_p.A117V	NM_170737	NP_733933	Q99712	IRK15_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 15 (KCNJ15), transcript variant 3, mRNA.	117					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTCACTGGGGCGTTTCTCTTT	0.493													T	39671533	C	T	39671533	3	4	63	1	0	0	0	0	1	0	0	0	8107	768	27	1	352	1	KCNJ15	21	39671533	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08		39671533	8458362	65	4121											
UMODL1	89766	broad.mit.edu	37	chr21	43522316	43522316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataaagattgtaaaccaCaacctgacggagaagttact	18	8	7	8	1	0	3	0	1	0	2	0	4	0	3	2	1	3	2	2	1	8	4			TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chr21:43522316C>A	uc002zag.1	+	7	1227	c.1227C>A	c.(1225-1227)caC>caA	p.H409Q	UMODL1_uc002zad.1_Missense_Mutation_p.H337Q|UMODL1_uc002zae.1_Missense_Mutation_p.H337Q|UMODL1_uc002zaf.1_Missense_Mutation_p.H409Q|UMODL1_uc010gow.1_Missense_Mutation_p.H201Q|UMODL1_uc002zai.1_Missense_Mutation_p.H60Q|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.H60Q|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.H154Q|C21orf128_uc002zak.2_3'UTR	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	409	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTGTAAACCACAACCTGACGG	0.428													A	43522316	C	A	43522316	3	1	63	1	0	0	0	0	1	0	0	0	17082	477	17	4	1257	4	UMODL1	21	43522316	Missense_Mutation	SNP	C	TCGA-06-0749-01A-01W-0348-08	3850783	43522316	4607579	66	4122											
STAG2	10735	broad.mit.edu	37	chrX	123205046	123205047	+	Frame_Shift_Del	DEL	TA	TA	-																															atgatcttcagccatcagatTatgtcaggagggcgtgacat																										TCGA-06-0749-01A-01W-0348-08	TCGA-06-0749-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1121aced-04ae-4ba2-a467-c5b8445a0a76	87c88d13-a280-4497-9925-ed79bfa82db5	g.chrX:123205046_123205047delTA	uc004eua.3	+	24	2810_2811	c.2406_2407delTA	c.(2404-2409)attatgfs	p.I802fs	STAG2_uc004etz.4_Frame_Shift_Del_p.I802fs|STAG2_uc004eub.3_Frame_Shift_Del_p.I802fs|STAG2_uc004euc.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eud.3_Frame_Shift_Del_p.I802fs|STAG2_uc004eue.3_Frame_Shift_Del_p.I802fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	802					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.Q801*(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GCCATCAGATTATGTCAGGAGG	0.376													-	123205047	TA	-	123205046	7	5	63	1	0	1	0	1	0	0	0	0	15339	1742	61	0	2496	0	STAG2	23	123205046	Frame_Shift_Del	DEL	TA	TCGA-06-0749-01A-01W-0348-08		123205046	32065514	67	4123											
SCNN1D	6339	broad.mit.edu	37	chr1	1222331	1222331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgagccactcgggcagCcgggtcagagtggggttcag	7	6	18	10	2	2	2	2	1	0	1	3	2	2	2	2	5	2	3	2	5	0	1			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:1222331C>T	uc001adt.1	+	7	1321	c.1095C>T	c.(1093-1095)agC>agT	p.S365S	SCNN1D_uc001adu.1_Silent_p.S201S|SCNN1D_uc001adw.2_Silent_p.S267S|SCNN1D_uc001adv.2_Silent_p.S201S|SCNN1D_uc001adx.2_5'UTR	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		ACTCGGGCAGCCGGGTCAGAG	0.697													T	1222331	C	T	1222331	2	4	64	1	0	0	0	0	0	0	0	1	14022	738	26	2		2	SCNN1D	1	1222331	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		1222331	248028290	1	4124											
SYDE2	84144	broad.mit.edu	37	chr1	85656020	85656020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggcctcaccaaaactCaaggcacttgatataccaag	14	7	8	12	1	2	1	2	1	0	0	3	2	2	1	3	2	2	1	3	2	6	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:85656020C>A	uc009wcm.3	-	1	1210	c.1161G>T	c.(1159-1161)ttG>ttT	p.L387F	SYDE2_uc001dku.4_Missense_Mutation_p.L387F	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	387					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CACCAAAACTCAAGGCACTTG	0.448													A	85656020	C	A	85656020	3	1	64	1	0	0	0	0	1	0	0	0	15533	825	29	4	2447	4	SYDE2	1	85656020	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	84433689	85656020	163594601	2	4125											
FLG	2312	broad.mit.edu	37	chr1	152281389	152281389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctgttcatgggatgaCgcagcctgtccacgagagga	8	9	13	11	2	1	2	1	1	0	1	2	5	2	4	3	2	2	2	3	2	0	2	rs138652718	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:152281389C>T	uc001ezu.1	-	2	6009	c.5973G>A	c.(5971-5973)gcG>gcA	p.A1991A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1991	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGGATGACGCAGCCTGTC	0.572									Ichthyosis				T	152281389	C	T	152281389	2	4	64	1	0	0	0	0	0	0	0	1	5971	523	19	1		1	FLG	1	152281389	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	66625369	152281389	96969232	3	4126											
KLHL20	27252	broad.mit.edu	37	chr1	173744944	173744944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccccagaaccaaccagtGgtctccagtggtggccatga	11	6	10	14	0	1	2	0	1	1	1	2	2	1	2	6	3	3	0	6	3	3	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr1:173744944G>T	uc001gjc.3	+	9	1780	c.1601G>T	c.(1600-1602)tGg>tTg	p.W534L	KLHL20_uc010pmr.2_Missense_Mutation_p.W345L|KLHL20_uc009wwf.3_Missense_Mutation_p.W516L	NM_014458	NP_055273	Q9Y2M5	KLH20_HUMAN	Homo sapiens kelch-like 20 (Drosophila) (KLHL20), mRNA.	534					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						ACCAACCAGTGGTCTCCAGTG	0.478													T	173744944	G	T	173744944	3	4	64	1	0	0	0	0	1	0	0	0	8433	1357	47	4	1635	4	KLHL20	1	173744944	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	21463555	173744944	75505677	4	4127											
GPR17	2840	broad.mit.edu	37	chr2	128408380	128408380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccacggcagagcaatgtgGccaggagacgccactggaga	11	3	16	11	2	0	3	0	0	0	3	0	5	0	3	3	5	1	2	3	5	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:128408380G>T	uc010yzn.2	+	3	766	c.155G>T	c.(154-156)gGc>gTc	p.G52V	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Missense_Mutation_p.G52V|GPR17_uc010yzo.2_Missense_Mutation_p.G24V|GPR17_uc002tpd.3_Missense_Mutation_p.G24V	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	52						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		gagcaatgtggccaggagacg	0.547											OREG0014966	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128408380	G	T	128408380	3	4	64	1	0	0	0	0	1	0	0	0	6721	1203	42	4	161	4	GPR17	2	128408380	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		128408380	114790993	5	4128											
FAM123C	205147	broad.mit.edu	37	chr2	131521709	131521709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgaagatcagctcaaaCgaacagcccccggccgcatg	11	4	10	16	3	2	2	2	1	0	1	2	3	2	2	4	1	4	2	4	1	3	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr2:131521709C>T	uc021voy.1	+	0	2064	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	FAM123C_uc002trw.2_Silent_p.N688N|FAM123C_uc010fmv.2_Silent_p.N688N|FAM123C_uc010fms.1_Silent_p.N688N|FAM123C_uc010fmt.1_Silent_p.N688N|FAM123C_uc010fmu.1_Silent_p.N688N	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	688										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		TCAGCTCAAACGAACAGCCCC	0.652													T	131521709	C	T	131521709	2	4	64	1	0	0	0	0	0	0	0	1	5469	535	19	1		1	FAM123C	2	131521709	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	3113329	131521709	111677664	6	4129											
TMEM144	55314	broad.mit.edu	37	chr4	159136389	159136389	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccatatggttggttgcCttggttgtcaatctgatatt	6	17	11	7	0	2	1	1	1	1	0	2	1	2	1	2	3	2	4	2	3	3	7	rs149733307		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr4:159136389C>G	uc003ipx.3	+	3	676	c.156C>G	c.(154-156)gcC>gcG	p.A52A	TMEM144_uc010iqi.3_Non-coding_Transcript	NM_018342	NP_060812	Q7Z5S9	TM144_HUMAN	Homo sapiens transmembrane protein 144 (TMEM144), mRNA.	52						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGTTGGTTGCCTTGGTTGTCA	0.383													G	159136389	C	G	159136389	2	3	64	1	0	0	0	0	0	0	0	1	16158	668	24	4		4	TMEM144	4	159136389	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		159136389	32017887	7	4130											
PIK3R1	5295	broad.mit.edu	37	chr5	67591246	67591246	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcaaaactgtttttcAggtggttgactcaaaaaggt	11	16	8	6	0	4	1	3	1	1	0	4	1	4	1	0	3	1	2	0	3	4	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:67591246A>G	uc003jva.3	+	14	2326	c.1746_splice	c.e14-2	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591246	A	G	67591246	5	3	64	1	0	0	0	0	0	0	1	0	11995	202	7	3	1924	3	PIK3R1	5	67591246	Splice_Site	SNP	A	TCGA-06-0750-01A-01W-0348-08		67591246	113324014	8	4131											
FSTL4	23105	broad.mit.edu	37	chr5	132535036	132535036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagctccaggaacagcagGtccggctccgtgtgcagagc	9	5	14	13	2	0	1	0	0	0	1	3	3	3	2	3	3	5	4	3	3	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:132535036G>T	uc003kyn.1	-	15	2498	c.2280C>A	c.(2278-2280)gaC>gaA	p.D760E	FSTL4_uc003kym.1_Missense_Mutation_p.D409E	NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	760						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGAACAGCAGGTCCGGCTCCG	0.582													T	132535036	G	T	132535036	3	4	64	1	0	0	0	0	1	0	0	0	6131	1252	44	4	252	4	FSTL4	5	132535036	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	64943790	132535036	48380224	9	4132											
ARHGAP26	23092	broad.mit.edu	37	chr5	142281566	142281566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaactggccaaggatttcGgggacttcaagacacagtta	13	8	11	9	2	1	1	1	0	0	1	2	4	1	3	1	4	1	1	1	4	4	3	rs148543665		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr5:142281566G>A	uc011dbj.2	+	6	699	c.664G>A	c.(664-666)Ggg>Agg	p.G222R	ARHGAP26_uc003lmt.3_Missense_Mutation_p.G222R|ARHGAP26_uc003lmw.3_Missense_Mutation_p.G222R	NM_015071	NP_055886	Q9UNA1	RHG26_HUMAN	Homo sapiens Rho GTPase activating protein 26 (ARHGAP26), transcript variant 1, mRNA.	222					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding	p.G222W(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAAGGATTTCGGGGACTTCAA	0.448													A	142281566	G	A	142281566	3	1	64	1	0	0	0	0	1	0	0	0	878	1116	39	1	690	1	ARHGAP26	5	142281566	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	9746530	142281566	38633694	10	4133											
SNX14	57231	broad.mit.edu	37	chr6	86253476	86253476	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaattctatcattaaattCctctaacaaatgagggaatg	17	13	5	6	0	3	1	1	1	2	0	4	2	4	2	1	1	1	0	1	1	8	6			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr6:86253476C>A	uc003pkr.3	-	12	1304	c.1111G>T	c.(1111-1113)Gaa>Taa	p.E371*	SNX14_uc003pkp.3_Nonsense_Mutation_p.E234*|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Nonsense_Mutation_p.E319*|SNX14_uc003pks.3_Nonsense_Mutation_p.E327*|SNX14_uc003pkt.3_Nonsense_Mutation_p.E371*	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	371	RGS.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TCATTAAATTCCTCTAACAAA	0.279													A	86253476	C	A	86253476	4	1	64	1	0	0	0	0	0	1	0	0	14979	864	30	4	1797	4	SNX14	6	86253476	Nonsense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		86253476	84861591	11	4134											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AA																															agggcaaatacagctttggtGccacctgcgtgaagaagtgt																								rs149840192		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55221821_55221822GC>AA	uc003tqk.3	+	6	1111_1112	c.865_866GC>AA	c.(865-867)gcc>AAc	p.A289N	EGFR_uc003tqh.3_Missense_Mutation_p.A289N|EGFR_uc003tqi.3_Missense_Mutation_p.A289N|EGFR_uc003tqj.3_Missense_Mutation_p.A289N|EGFR_uc022adm.1_Missense_Mutation_p.A289N|EGFR_uc010kzg.2_Missense_Mutation_p.A244N|EGFR_uc022adn.1_Missense_Mutation_p.A244N|EGFR_uc011kco.2_Missense_Mutation_p.A236N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			AA	55221822	GC	AA	55221821	3	1	64	1	0	0	0	0	1	0	0	0	5006	1319	46	2	891	2	EGFR	7	55221821	Missense_Mutation	DNP	GC	TCGA-06-0750-01A-01W-0348-08		55221821	103916842	12	4135											
EGFR	1956	broad.mit.edu	37	chr7	55233037	55233037	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtcaagacctgccCggcaggagtcatgggagaaa	11	5	13	12	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:55233037C>G	uc003tqk.3	+	14	2033	c.1787C>G	c.(1786-1788)cCg>cGg	p.P596R	EGFR_uc003tqi.3_Missense_Mutation_p.P596R|EGFR_uc003tqj.3_Missense_Mutation_p.P596R|EGFR_uc022adm.1_Missense_Mutation_p.P596R|EGFR_uc010kzg.2_Missense_Mutation_p.P551R|EGFR_uc022adn.1_Missense_Mutation_p.P551R|EGFR_uc011kco.2_Missense_Mutation_p.P543R|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55233037	C	G	55233037	3	3	64	1	0	0	0	0	1	0	0	0	5006	652	23	4	1856	4	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	11216	55233037	103905626	13	4136											
BPGM	669	broad.mit.edu	37	chr7	134346723	134346723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggatcaactgccacggtCggaaagcttaaaggatgttc	11	10	11	9	2	1	0	1	0	0	0	3	3	1	3	1	4	3	2	1	4	4	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr7:134346723C>T	uc003vrv.3	+	2	1005	c.464C>T	c.(463-465)tCg>tTg	p.S155L	BPGM_uc003vrw.3_Missense_Mutation_p.S155L	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	155					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						CTGCCACGGTCGGAAAGCTTA	0.473													T	134346723	C	T	134346723	3	4	64	1	0	0	0	0	1	0	0	0	1497	893	31	1	466	1	BPGM	7	134346723	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	79113686	134346723	24791940	14	4137											
SLC34A3	142680	broad.mit.edu	37	chr9	140128961	140128961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcagcagcgtcttcaCggcggccgtcgtgcccctca	6	6	13	16	5	3	1	2	0	1	1	4	1	3	1	3	2	4	3	3	2	0	1	rs138798032		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr9:140128961C>T	uc022bqf.1	+	10	1408	c.1187C>T	c.(1186-1188)aCg>aTg	p.T396M	SLC34A3_uc011met.2_Missense_Mutation_p.T396M|SLC34A3_uc004cmf.1_Missense_Mutation_p.T396M	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	396					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		AGCGTCTTCACGGCGGCCGTC	0.721													T	140128961	C	T	140128961	3	4	64	1	0	0	0	0	1	0	0	0	14663	536	19	1	1225	1	SLC34A3	9	140128961	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		140128961	1084470	15	4138											
PHLDA2	7262	broad.mit.edu	37	chr11	2950491	2950491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggggaacaggctcaggCggtcggaggtgagcaccccg	7	4	19	11	4	1	1	1	1	0	0	2	3	1	3	2	8	2	2	2	8	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:2950491C>T	uc021qci.1	-	0	104	c.104G>A	c.(103-105)cGc>cAc	p.R35H	PHLDA2_uc001lxa.1_Missense_Mutation_p.R35H	NM_003311	NP_003302	Q53GA4	PHLA2_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 2 (PHLDA2), mRNA.	35	PH.				apoptosis	cytoplasm|membrane				central_nervous_system(1)	1		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.0025)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGCTCAGGCGGTCGGAGGT	0.667													T	2950491	C	T	2950491	3	4	64	1	0	0	0	0	1	0	0	0	11926	768	27	1	358	1	PHLDA2	11	2950491	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		2950491	132056025	16	4139											
OR52J3	119679	broad.mit.edu	37	chr11	5068409	5068409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgctcattggcatctcGtatgtttacattctccgtgc	5	16	9	11	2	3	0	1	0	2	0	5	0	3	0	1	2	3	4	1	2	2	5	rs148600962		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:5068409G>A	uc010qyv.2	+	0	654	c.654G>A	c.(652-654)tcG>tcA	p.S218S		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	218					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)		TTGGCATCTCGTATGTTTACA	0.448													A	5068409	G	A	5068409	2	1	64	1	0	0	0	0	0	0	0	1	11198	1132	40	1		1	OR52J3	11	5068409	Silent	SNP	G	TCGA-06-0750-01A-01W-0348-08	2117918	5068409	129938107	17	4140											
OR5P2	120065	broad.mit.edu	37	chr11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgactgttgcaaagaaagccGctgaaccaagctggatggca	13	6	12	10	2	0	2	0	1	0	1	0	4	0	3	2	2	4	5	2	2	4	1			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:7818191G>A	uc001mfp.1	-	0	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483													A	7818191	G	A	7818191	3	1	64	1	0	0	0	0	1	0	0	0	11254	1087	38	1	673	1	OR5P2	11	7818191	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	2749782	7818191	127188325	18	4141											
OR5W2	390148	broad.mit.edu	37	chr11	55681318	55681318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctggaaaattgcaacCgcagataagtgggaagtgca	13	8	12	8	1	0	1	0	0	0	1	1	3	1	3	2	2	3	4	2	2	5	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55681318C>T	uc010rir.2	-	0	741	c.741G>A	c.(739-741)gcG>gcA	p.A247A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A247A(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AAATTGCAACCGCAGATAAGT	0.403													T	55681318	C	T	55681318	2	4	64	1	0	0	0	0	0	0	0	1	11261	639	23	1		1	OR5W2	11	55681318	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	47863127	55681318	79325198	19	4142											
OR5T2	219464	broad.mit.edu	37	chr11	55999905	55999905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaccataggagatcagaaCaatcaggatagtgaccagct	17	6	9	9	0	2	3	2	1	0	2	2	5	2	4	2	2	3	1	2	2	5	2	rs146086539		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:55999905C>T	uc010rjc.2	-	0	757	c.757G>A	c.(757-759)Gtt>Att	p.V253I		NM_001004746	NP_001004746	Q8NGG2	OR5T2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 2 (OR5T2), mRNA.	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAGATCAGAACAATCAGGATA	0.448													T	55999905	C	T	55999905	3	4	64	1	0	0	0	0	1	0	0	0	11258	478	17	2	321	2	OR5T2	11	55999905	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	318587	55999905	79006611	20	4143											
PDE2A	5138	broad.mit.edu	37	chr11	72293532	72293532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacgaggggtataggtgaAacttgcaaaattggagtcaa	15	8	14	4	1	1	1	1	1	0	0	1	4	1	3	0	5	3	2	0	5	7	4			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:72293532A>G	uc010rrc.2	-	20	2053	c.1807T>C	c.(1807-1809)Ttc>Ctc	p.F603L	PDE2A_uc001oso.3_Missense_Mutation_p.F582L|PDE2A_uc010rra.2_Missense_Mutation_p.F596L|PDE2A_uc001osn.3_Missense_Mutation_p.F347L|PDE2A_uc010rrb.2_Missense_Mutation_p.F594L|PDE2A_uc010rrd.2_Missense_Mutation_p.F488L	NM_002599	NP_002590	O00408	PDE2A_HUMAN	Homo sapiens phosphodiesterase 2A, cGMP-stimulated (PDE2A), transcript variant 1, mRNA.	603					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	GTATAGGTGAAACTTGCAAAA	0.537													G	72293532	A	G	72293532	3	3	64	1	0	0	0	0	1	0	0	0	11712	14	1	3	1062	3	PDE2A	11	72293532	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08	16293627	72293532	62712984	21	4144											
OR8B4	283162	broad.mit.edu	37	chr11	124294255	124294255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagataatggtcaatgacGttggaatcacagaaggtcag	15	8	11	7	1	3	3	3	1	0	2	3	4	3	4	0	3	0	1	0	3	4	2	rs146995996	byFrequency	TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:124294255G>A	uc010sak.2	-	0	513	c.513C>T	c.(511-513)aaC>aaT	p.N171N		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGTCAATGACGTTGGAATCAC	0.512													A	124294255	G	A	124294255	2	1	64	1	0	0	0	0	0	0	0	1	11305	1136	40	1		1	OR8B4	11	124294255	Silent	SNP	G	TCGA-06-0750-01A-01W-0348-08	52000723	124294255	10712261	22	4145											
SRPR	6734	broad.mit.edu	37	chr11	126134309	126134309	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcctactaaggcttctcCtacaaacagcaccaaatcag	14	9	5	13	0	2	0	1	0	1	0	3	0	2	0	3	1	5	2	3	1	5	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr11:126134309C>A	uc001qdh.3	-	11	1829	c.1651G>T	c.(1651-1653)Gga>Tga	p.G551*	SRPR_uc010sbm.2_Nonsense_Mutation_p.G523*	NM_003139	NP_003130	P08240	SRPR_HUMAN	Homo sapiens signal recognition particle receptor (docking protein) (SRPR), transcript variant 1, mRNA.	551					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		AAGGCTTCTCCTACAAACAGC	0.517													A	126134309	C	A	126134309	4	1	64	1	0	0	0	0	0	1	0	0	15258	690	24	4	277	4	SRPR	11	126134309	Nonsense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	1840054	126134309	8872207	23	4146											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057129	72057129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacgcgtgccgcgagcGtgagaaattcctcagctgct	8	8	12	13	5	2	2	2	1	0	2	3	4	3	2	2	0	4	2	2	0	1	1			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:72057129G>A	uc001swo.2	-	0	621	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	ZFC3H1_uc010sts.2_Missense_Mutation_p.R88C|ZFC3H1_uc001swp.3_Missense_Mutation_p.R88C|THAP2_uc001swq.3_5'Flank	NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	88	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TGCCGCGAGCGTGAGAAATTC	0.652											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72057129	G	A	72057129	3	1	64	1	0	0	0	0	1	0	0	0	17734	1145	40	1	5847	1	ZFC3H1	12	72057129	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		72057129	61794766	24	4147											
NR1H4	9971	broad.mit.edu	37	chr12	100904745	100904745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatatatgaactcaggcGtatgccagctgagactctct	11	11	10	9	1	2	2	1	2	1	1	3	4	2	3	1	2	3	2	1	2	5	3	rs113431969		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr12:100904745G>A	uc001tht.2	+	1	327	c.299G>A	c.(298-300)cGt>cAt	p.R100H	NR1H4_uc001thq.2_Missense_Mutation_p.R90H|NR1H4_uc001thp.2_Missense_Mutation_p.R90H|NR1H4_uc001thr.2_Missense_Mutation_p.R90H|NR1H4_uc010svk.2_Missense_Mutation_p.R90H|NR1H4_uc010svj.2_Non-coding_Transcript|NR1H4_uc001ths.2_Missense_Mutation_p.R100H	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	100					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						GAACTCAGGCGTATGCCAGCT	0.522													A	100904745	G	A	100904745	3	1	64	1	0	0	0	0	1	0	0	0	10695	1145	40	1	275	1	NR1H4	12	100904745	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	28847616	100904745	32947150	25	4148											
GABRA5	2558	broad.mit.edu	37	chr15	27114460	27114460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcttttgtatttccaTgaacttatccagtcactttg	7	19	4	11	0	2	1	1	1	1	0	5	1	4	1	3	0	1	1	3	0	3	7			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:27114460T>C	uc001zbd.2	+	2	597	c.65T>C	c.(64-66)aTg>aCg	p.M22T	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.M22T	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	22					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGTATTTCCATGAACTTATCC	0.388													C	27114460	T	C	27114460	3	2	64	1	0	0	0	0	1	0	0	0	6216	1464	51	3	67	3	GABRA5	15	27114460	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08		27114460	75416932	26	4149											
CHSY1	22856	broad.mit.edu	37	chr15	101718018	101718018	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaatctttgggtcatactGgctgaagatgattggaaaat	14	12	10	5	0	2	3	1	2	1	1	2	4	2	4	0	3	2	1	0	3	6	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr15:101718018G>A	uc021sxt.1	-	2	2460	c.1984C>T	c.(1984-1986)Cag>Tag	p.Q662*	CHSY1_uc010usd.2_Nonsense_Mutation_p.Q390*	NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	662					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGTCATACTGGCTGAAGATG	0.428													A	101718018	G	A	101718018	4	1	64	1	0	0	0	0	0	1	0	0	3442	1357	47	2	428	2	CHSY1	15	101718018	Nonsense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	74603558	101718018	813374	27	4150											
RLTPR	146206	broad.mit.edu	37	chr16	67683416	67683417	+	Frame_Shift_Ins	INS	-	-	T																															cagcgtcctactccgggcccINStagccaccaatcctaacctg																										TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:67683416_67683417insT	uc002etn.3	+	19	1933_1934	c.1813_1814insT	c.(1813-1815)ctafs	p.L605fs	RLTPR_uc010cel.1_Frame_Shift_Ins_p.L598fs|RLTPR_uc010vjr.2_Frame_Shift_Ins_p.L569fs	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	605	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACTCCGGGCCCTAGCCACCAAT	0.629													T	67683417	-	T	67683416	7	5	64	1	0	1	1	0	0	0	0	0	13485	680	24	0	1891	0	RLTPR	16	67683416	Frame_Shift_Ins	INS	-	TCGA-06-0750-01A-01W-0348-08		67683416	22671337	28	4151											
DPEP1	1800	broad.mit.edu	37	chr16	89704306	89704306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcgctgagctgctcaggaGgaactggacggaggcggagg	9	5	19	8	3	1	1	1	1	0	0	2	7	1	6	0	7	3	3	0	7	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr16:89704306G>A	uc010cin.3	+	9	1195	c.992G>A	c.(991-993)aGg>aAg	p.R331K	DPEP1_uc002fnr.4_Missense_Mutation_p.R331K|DPEP1_uc002fns.4_Missense_Mutation_p.R331K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	331					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	CTGCTCAGGAGGAACTGGACG	0.627													A	89704306	G	A	89704306	3	1	64	1	0	0	0	0	1	0	0	0	4752	1000	35	2	1026	2	DPEP1	16	89704306	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	22020890	89704306	650447	29	4152											
FXR2	9513	broad.mit.edu	37	chr17	7495610	7495610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttctgagggtttagtgcGttccaggggtggcctctggc	3	13	16	9	1	3	1	0	1	3	0	4	1	4	1	2	5	1	2	2	5	1	4			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:7495610G>A	uc002gia.2	-	15	2253	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	MPDU1_uc010vuc.1_Intron|SOX15_uc002ghy.1_5'Flank|SOX15_uc002ghz.1_5'Flank	NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	630						cytosolic large ribosomal subunit	protein binding|RNA binding	p.R630C(2)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGTTTAGTGCGTTCCAGGGGT	0.522													A	7495610	G	A	7495610	3	1	64	1	0	0	0	0	1	0	0	0	6168	1145	40	1	41	1	FXR2	17	7495610	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		7495610	73699600	30	4153											
FKBP10	60681	broad.mit.edu	37	chr17	39975472	39975472	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttccccagggacagtgatCcccccacaggcctcgctggt	6	7	10	18	1	0	1	0	1	0	0	3	2	2	2	7	3	0	1	7	3	0	1			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:39975472C>T	uc002hxv.2	+	4	1063	c.738C>T	c.(736-738)atC>atT	p.I246I	FKBP10_uc002hxw.1_5'UTR	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	246	PPIase FKBP-type 2.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGACAGTGATCCCCCCACAGG	0.607													T	39975472	C	T	39975472	2	4	64	1	0	0	0	0	0	0	0	1	5951	845	30	2		2	FKBP10	17	39975472	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08	32479862	39975472	41219738	31	4154											
NPEPPS	9520	broad.mit.edu	37	chr17	45681356	45681356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtttattaccaggcattCgtgacctttctctgccccct	8	14	6	13	1	1	1	0	1	1	0	3	1	1	1	4	1	2	2	4	1	3	5			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr17:45681356C>T	uc002ilr.4	+	15	2039	c.1816C>T	c.(1816-1818)Cgt>Tgt	p.R606C	NPEPPS_uc010wkt.2_Missense_Mutation_p.R602C|NPEPPS_uc010wku.2_Missense_Mutation_p.R570C|NPEPPS_uc010wkv.2_Missense_Mutation_p.R160C|NPEPPS_uc002ils.1_Missense_Mutation_p.R39C	NM_006310	NP_006301	P55786	PSA_HUMAN	Homo sapiens aminopeptidase puromycin sensitive (NPEPPS), mRNA.	606					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						ACCAGGCATTCGTGACCTTTC	0.433													T	45681356	C	T	45681356	3	4	64	1	0	0	0	0	1	0	0	0	10651	884	31	1	1878	1	NPEPPS	17	45681356	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	5705884	45681356	35513854	32	4155											
DSG1	1828	broad.mit.edu	37	chr18	28934664	28934664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctctgggctatggtaatgtCactgtgaccgagtcttacac	8	12	10	11	1	3	1	1	1	2	0	3	2	3	1	2	2	1	2	2	2	3	3			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:28934664C>T	uc002kwp.3	+	14	2717	c.2505C>T	c.(2503-2505)gtC>gtT	p.V835V	DSG1_uc010xbp.2_Silent_p.V194V	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	835					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGGTAATGTCACTGTGACCG	0.512													T	28934664	C	T	28934664	2	4	64	1	0	0	0	0	0	0	0	1	4815	813	29	2		2	DSG1	18	28934664	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		28934664	49142584	33	4156											
SLC14A2	8170	broad.mit.edu	37	chr18	43212315	43212315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagtctgtttcaccgccagGtctgccattgcctcaggact	6	12	9	14	1	5	0	3	0	2	0	5	1	5	1	4	2	2	1	4	2	0	2			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:43212315G>T	uc002lbe.3	+	5	1338	c.522_splice	c.e5-1	p.R174_splice	SLC14A2_uc002lbb.3_Splice_Site_p.R174_splice|SLC14A2_uc010dnj.3_Splice_Site_p.R174_splice	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	174						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACCGCCAGGTCTGCCATTG	0.512													T	43212315	G	T	43212315	3	4	64	1	0	0	0	0	1	0	0	0	14491	1275	44	4	536	4	SLC14A2	18	43212315	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	14277651	43212315	34864933	34	4157											
MC4R	4160	broad.mit.edu	37	chr18	58038973	58038973	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccatgagagccagcaTggtgaagaacatggtgatga	15	6	14	6	0	0	6	0	4	0	3	0	7	0	6	2	2	4	1	2	2	3	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr18:58038973T>A	uc002lie.1	-	0	1029	c.610A>T	c.(610-612)Atg>Ttg	p.M204L		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	204					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				AGAGCCAGCATGGTGAAGAAC	0.498													A	58038973	T	A	58038973	3	1	64	1	0	0	0	0	1	0	0	0	9441	1464	51	5	392	5	MC4R	18	58038973	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08	14826658	58038973	20038275	35	4158											
MAP1S	55201	broad.mit.edu	37	chr19	17844106	17844106	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcccacctggtggatGaggagttcttccagcgcgtg	6	8	15	12	3	1	1	0	1	1	0	2	3	2	3	3	3	2	2	3	3	0	2			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:17844106G>T	uc002nhe.1	+	5	2902	c.2893G>T	c.(2893-2895)Gag>Tag	p.E965*	MAP1S_uc010xpv.1_Nonsense_Mutation_p.E939*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	965	Necessary for association with actin (By similarity).|Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding	p.E965*(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CCTGGTGGATGAGGAGTTCTT	0.697													T	17844106	G	T	17844106	4	4	64	1	0	0	0	0	0	1	0	0	9309	1291	45	4	2915	4	MAP1S	19	17844106	Nonsense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		17844106	41284877	36	4159											
ZNF98	148198	broad.mit.edu	37	chr19	22574462	22574462	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaggagttgttaaaggcTttgccgcattcttcacactt	10	14	9	8	1	2	1	1	0	1	1	2	2	2	2	1	2	1	4	1	2	3	7			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:22574462T>A	uc002nqt.2	-	3	1697	c.1575A>T	c.(1573-1575)aaA>aaT	p.K525N		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	525					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)				TGTTAAAGGCTTTGCCGCATT	0.388													A	22574462	T	A	22574462	3	1	64	1	0	0	0	0	1	0	0	0	18302	1606	56	5	147	5	ZNF98	19	22574462	Missense_Mutation	SNP	T	TCGA-06-0750-01A-01W-0348-08	4730356	22574462	36554521	37	4160											
CD37	951	broad.mit.edu	37	chr19	49840274	49840274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggccctcaaggagctccGctgcctcctgggcctggtga	4	7	16	14	1	1	1	1	1	0	0	3	2	3	2	5	5	2	2	5	5	1	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr19:49840274G>A	uc002pnd.3	+	2	372	c.251G>A	c.(250-252)cGc>cAc	p.R84H	AK097351_uc002pnb.1_Intron|CD37_uc002pnc.3_Non-coding_Transcript|CD37_uc010yam.1_Missense_Mutation_p.R84H|CD37_uc010yan.1_Missense_Mutation_p.R16H|CD37_uc002pnf.3_Missense_Mutation_p.R56H|CD37_uc002pne.3_Missense_Mutation_p.R16H	NM_001774	NP_001035120	P11049	CD37_HUMAN	Homo sapiens CD37 molecule (CD37), transcript variant 1, mRNA.	84						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		AAGGAGCTCCGCTGCCTCCTG	0.622													A	49840274	G	A	49840274	3	1	64	1	0	0	0	0	1	0	0	0	3038	1087	38	1	261	1	CD37	19	49840274	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	27265812	49840274	9288709	38	4161											
CST7	8530	broad.mit.edu	37	chr20	24930092	24930092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatgctgcctgagaaggCactgcacggccacccccaac	9	4	9	19	1	0	1	0	1	0	1	0	2	0	1	6	2	4	3	6	2	2	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:24930092C>A	uc002wtx.2	+	0						NM_003650	NP_003641	O76096	CYTF_HUMAN	Homo sapiens cystatin F (leukocystatin) (CST7), mRNA.						immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						CCTGAGAAGGCACTGCACGGC	0.672													A	24930092	C	A	24930092	3	1	64	1	0	0	0	0	1	0	0	0	4010	725	25	4		4	CST7	20	24930092	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		24930092	38095428	39	4162											
PHF20	51230	broad.mit.edu	37	chr20	34487354	34487354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaccagctgtcgacctaGaccataagtttagatgcaaa	14	9	8	10	1	0	2	0	0	0	2	1	3	0	2	3	0	3	4	3	0	4	4			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr20:34487354G>T	uc002xek.1	+	9	1456	c.1345G>T	c.(1345-1347)Gac>Tac	p.D449Y	PHF20_uc002xei.1_Missense_Mutation_p.D449Y|PHF20_uc010gfo.1_Missense_Mutation_p.D449Y|PHF20_uc002xej.1_Missense_Mutation_p.D333Y	NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TGTCGACCTAGACCATAAGTT	0.348													T	34487354	G	T	34487354	3	4	64	1	0	0	0	0	1	0	0	0	11908	942	33	4	1379	4	PHF20	20	34487354	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08	9557262	34487354	28538166	40	4163											
TMPRSS3	64699	broad.mit.edu	37	chr21	43803180	43803180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgatgatccacaggggCgtgatgacagagcccccgca	10	5	14	12	2	0	5	0	4	0	1	1	5	1	5	3	2	1	2	3	2	0	0			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr21:43803180C>T	uc002zbb.2	-	7	945	c.744G>A	c.(742-744)acG>acA	p.T248T	TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.T121T|TMPRSS3_uc002zba.2_Silent_p.T121T|TMPRSS3_uc002zbc.2_Silent_p.T248T|TMPRSS3_uc002zbd.3_Silent_p.T248T	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	248	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TCCACAGGGGCGTGATGACAG	0.602													T	43803180	C	T	43803180	2	4	64	1	0	0	0	0	0	0	0	1	16348	755	27	1		1	TMPRSS3	21	43803180	Silent	SNP	C	TCGA-06-0750-01A-01W-0348-08		43803180	4326715	41	4164											
GGT5	2687	broad.mit.edu	37	chr22	24622188	24622188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccatcgatctgttggCggatgagctgggccagggtc	5	8	16	12	3	1	1	0	1	1	0	3	3	1	2	3	5	1	2	3	5	0	1	rs149456868		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chr22:24622188C>T	uc002zzp.4	-	7	1502	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	GGT5_uc002zzo.4_Missense_Mutation_p.R362H|GGT5_uc002zzr.4_Missense_Mutation_p.R330H|GGT5_uc002zzq.4_Missense_Mutation_p.R330H|GGT5_uc011ajm.2_Missense_Mutation_p.R285H|GGT5_uc011ajn.1_Non-coding_Transcript	NM_001099781	NP_001093251	P36269	GGT5_HUMAN	Homo sapiens gamma-glutamyltransferase 5 (GGT5), transcript variant 1, mRNA.	362					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.R362C(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GATCTGTTGGCGGATGAGCTG	0.692													T	24622188	C	T	24622188	3	4	64	1	0	0	0	0	1	0	0	0	6418	768	27	1	698	1	GGT5	22	24622188	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08		24622188	26682378	42	4165											
DMD	1756	broad.mit.edu	37	chrX	32663088	32663088	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttttagtttacctcatgaGtatgaaactggtctttcacc	9	16	7	9	1	3	2	2	2	1	0	3	2	3	2	2	1	2	3	2	1	4	6			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:32663088G>C	uc004dda.1	-	9	1386	c.1142C>G	c.(1141-1143)aCt>aGt	p.T381S	DMD_uc004dcz.2_Missense_Mutation_p.T258S|DMD_uc004dcy.1_Missense_Mutation_p.T377S|DMD_uc004ddb.1_Missense_Mutation_p.T373S|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.T373S|DMD_uc010ngp.1_Intron|DMD_uc010ngq.1_Intron|DMD_uc010ngr.1_Missense_Mutation_p.T92S	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	381					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACCTCATGAGTATGAAACTG	0.353													C	32663088	G	C	32663088	3	2	64	1	0	0	0	0	1	0	0	0	4619	1029	36	4	10438	4	DMD	23	32663088	Missense_Mutation	SNP	G	TCGA-06-0750-01A-01W-0348-08		32663088	122607472	43	4166											
PCDH11X	27328	broad.mit.edu	37	chrX	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctggcatccagttgaCgaaagtaagtgcaatggatg	11	10	11	9	1	1	1	0	1	1	0	3	3	2	2	2	2	1	4	2	2	3	2	rs62621113		TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrX:91132696C>T	uc004efk.2	+	1	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTTGACGAAAGTAAGT	0.438													T	91132696	C	T	91132696	3	4	64	1	0	0	0	0	1	0	0	0	11584	536	19	1	1463	1	PCDH11X	23	91132696	Missense_Mutation	SNP	C	TCGA-06-0750-01A-01W-0348-08	58469608	91132696	64137864	44	4167											
PCDH11Y	83259	broad.mit.edu	37	chrY	4968500	4968500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactacacctactactttcAagcctgacagccctgatttg	11	12	5	13	0	1	2	1	2	0	0	1	2	1	2	3	0	6	0	3	0	5	6			TCGA-06-0750-01A-01W-0348-08	TCGA-06-0750-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc15ced3-5ed1-4f88-8789-09ec713bd613	26786497-ed7d-4242-93b7-6f0793c2c384	g.chrY:4968500A>G	uc004fqo.3	+	1	3615	c.2881A>G	c.(2881-2883)Aag>Gag	p.K961E	PCDH11Y_uc010nwg.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fql.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqm.1_Missense_Mutation_p.K950E|PCDH11Y_uc004fqn.1_Missense_Mutation_p.K961E|PCDH11Y_uc004fqp.1_Missense_Mutation_p.K732E	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	961					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TACTACTTTCAAGCCTGACAG	0.458													G	4968500	A	G	4968500	3	3	64	1	0	0	0	0	1	0	0	0	11585	131	5	3	2923	3	PCDH11Y	24	4968500	Missense_Mutation	SNP	A	TCGA-06-0750-01A-01W-0348-08		4968500	54405066	45	4168											
AGRN	375790	broad.mit.edu	37	chr1	981607	981607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccatcgcctgccgccaggGcctgcaaatctctatccaga	9	7	9	16	2	1	1	0	0	1	1	4	2	2	1	6	1	2	1	6	1	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:981607G>A	uc001ack.2	+	16	2923	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	958	Kazal-like 9.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		TGCCGCCAGGGCCTGCAAATC	0.612													A	981607	G	A	981607	3	1	65	1	0	0	0	0	1	0	0	0	397	1203	42	2	2939	2	AGRN	1	981607	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		981607	248269014	1	4169											
ZNF362	149076	broad.mit.edu	37	chr1	33745881	33745881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctcagggatcaccaGcccccctctcctggactcca	7	8	6	20	0	4	0	3	0	2	0	7	2	5	2	7	2	1	0	7	2	0	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:33745881G>A	uc001bxc.1	+	4	676	c.506G>A	c.(505-507)aGc>aAc	p.S169N		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGATCACCAGCCCCCCTCTC	0.677													A	33745881	G	A	33745881	3	1	65	1	0	0	0	0	1	0	0	0	17969	971	34	2	520	2	ZNF362	1	33745881	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	32764274	33745881	215504740	2	4170											
MAP7D1	55700	broad.mit.edu	37	chr1	36636835	36636835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccagccatgggcccaCgggatgccagacctcctcga	8	4	10	19	2	0	1	0	0	0	1	2	3	1	2	8	2	2	0	8	2	0	0	rs2296266	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:36636835C>T	uc001bzz.3	+	1	526	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	MAP7D1_uc001caa.3_Missense_Mutation_p.R104W|MAP7D1_uc001cab.3_Missense_Mutation_p.R104W|MAP7D1_uc001cac.3_5'Flank	NM_018067	NP_060537	Q3KQU3	MA7D1_HUMAN	Homo sapiens MAP7 domain containing 1 (MAP7D1), mRNA.	104	Pro-rich.		R -> W (in dbSNP:rs2296266).			cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				CATGGGCCCACGGGATGCCAG	0.662													T	36636835	C	T	36636835	3	4	65	1	0	0	0	0	1	0	0	0	9342	527	19	1	316	1	MAP7D1	1	36636835	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	2890954	36636835	212613786	3	4171											
TM2D1	83941	broad.mit.edu	37	chr1	62190731	62190731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagacgaaccacaggacaCcaacgagtctggccgtcacg	12	4	11	14	4	2	1	1	1	1	1	2	5	2	2	3	2	2	0	3	2	2	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:62190731C>A	uc001czz.1	-	0	365	c.62G>T	c.(61-63)gGt>gTt	p.G21V		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.	21					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CCACAGGACACCAACGAGTCT	0.657													A	62190731	C	A	62190731	3	1	65	1	0	0	0	0	1	0	0	0	16063	507	18	4	585	4	TM2D1	1	62190731	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	25553896	62190731	187059890	4	4172											
FLG	2312	broad.mit.edu	37	chr1	152282713	152282713	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcctggagccgtctcctGattgttcctcatttcttgtt	4	17	9	11	1	3	1	1	1	2	0	5	2	4	2	4	1	2	2	4	1	0	5			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr1:152282713G>C	uc001ezu.1	-	2	4685	c.4649C>G	c.(4648-4650)tCa>tGa	p.S1550*		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1550	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCGTCTCCTGATTGTTCCTC	0.592									Ichthyosis				C	152282713	G	C	152282713	4	2	65	1	0	0	0	0	0	1	0	0	5971	1294	45	4	7540	4	FLG	1	152282713	Nonsense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	90091982	152282713	96967908	5	4173											
TMEM198	130612	broad.mit.edu	37	chr2	220414057	220414057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgcccatcaaacgcttcaAtggagacgtcctctccccgg	9	8	9	15	3	3	1	2	0	1	1	5	2	4	1	4	2	2	1	4	2	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr2:220414057A>G	uc002vme.3	+	4	1511	c.926A>G	c.(925-927)aAt>aGt	p.N309S	TMEM198_uc002vmf.3_Missense_Mutation_p.N309S|MIR3132_uc021vxc.1_5'Flank	NM_001005209	NP_001005209	Q66K66	TM198_HUMAN	Homo sapiens transmembrane protein 198 (TMEM198), mRNA.	309						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		AAACGCTTCAATGGAGACGTC	0.627													G	220414057	A	G	220414057	3	3	65	1	0	0	0	0	1	0	0	0	16219	101	4	3	936	3	TMEM198	2	220414057	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		220414057	22785316	6	4174											
TGFBR2	7048	broad.mit.edu	37	chr3	30732972	30732972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accacgacccagaggcccgtCtcacagcccagtgtgtggca	9	5	11	16	2	1	1	1	0	1	1	2	2	1	1	4	2	1	1	4	2	0	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:30732972C>T	uc003ceo.3	+	6	1967	c.1585C>T	c.(1585-1587)Ctc>Ttc	p.L529F	TGFBR2_uc003cen.3_Missense_Mutation_p.L554F	NM_003242	NP_003233	P37173	TGFR2_HUMAN	Homo sapiens transforming growth factor, beta receptor II (70/80kDa) (TGFBR2), transcript variant 2, mRNA.	529	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding	p.R528C(2)|p.R528H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						AGAGGCCCGTCTCACAGCCCA	0.592													T	30732972	C	T	30732972	3	4	65	1	0	0	0	0	1	0	0	0	15922	913	32	2	1690	2	TGFBR2	3	30732972	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		30732972	167289458	7	4175											
CELSR3	1951	broad.mit.edu	37	chr3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatatgggcattggggccttCgtcagggtccactgcagtga	7	11	14	9	1	1	1	1	1	0	0	3	1	2	1	2	4	1	2	2	4	2	4	rs144228630		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:48696782C>T	uc003cuf.1	-	2	3496	c.3496G>A	c.(3496-3498)Gaa>Aaa	p.E1166K	CELSR3_uc003cul.3_Missense_Mutation_p.E1096K	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1096	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGGGGCCTTCGTCAGGGTCC	0.532													T	48696782	C	T	48696782	3	4	65	1	0	0	0	0	1	0	0	0	3253	893	31	1	6792	1	CELSR3	3	48696782	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	17963810	48696782	149325648	8	4176											
BSN	8927	broad.mit.edu	37	chr3	49699300	49699300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccagggcccatggggcCcaagcatccctccaagagcc	8	5	12	16	0	0	1	0	0	0	1	3	1	3	1	6	4	2	1	6	4	2	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:49699300C>T	uc003cxe.4	+	5	10136	c.10022C>T	c.(10021-10023)cCc>cTc	p.P3341L		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	3341					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCCATGGGGCCCAAGCATCCC	0.572													T	49699300	C	T	49699300	3	4	65	1	0	0	0	0	1	0	0	0	1539	623	22	2	10044	2	BSN	3	49699300	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	1002518	49699300	148323130	9	4177											
CLDN18	51208	broad.mit.edu	37	chr3	137717874	137717874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggcgctcctgtgtccGagagagctctggcttcaccg	4	10	14	13	3	2	1	1	0	1	1	4	3	4	1	3	2	1	4	3	2	0	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr3:137717874G>A	uc003ero.1	+	0	217	c.164G>A	c.(163-165)cGa>cAa	p.R55Q		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	55					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	p.V54M(1)		endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						TCCTGTGTCCGAGAGAGCTCT	0.602													A	137717874	G	A	137717874	3	1	65	1	0	0	0	0	1	0	0	0	3510	1058	37	1	166	1	CLDN18	3	137717874	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	88018574	137717874	60304556	10	4178											
ATP10D	57205	broad.mit.edu	37	chr4	47575010	47575010	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctattttttctataagaAtgtggtatgtaaccccagag	11	16	7	7	0	2	2	0	0	2	2	3	2	2	2	2	1	1	2	2	1	6	8			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:47575010A>T	uc003gxk.1	+	17	3526	c.3362A>T	c.(3361-3363)aAt>aTt	p.N1121I	ATP10D_uc003gxl.1_Missense_Mutation_p.N369I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	1121					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTCTATAAGAATGTGGTATGT	0.433													T	47575010	A	T	47575010	3	4	65	1	0	0	0	0	1	0	0	0	1123	101	4	5	3428	5	ATP10D	4	47575010	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		47575010	143579266	11	4179											
KIAA1211	57482	broad.mit.edu	37	chr4	57189704	57189704	+	Frame_Shift_Del	DEL	A	A	-																															gaaagcaagccagagaggccAaacaggcagaaaagctctcc																										TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:57189704delA	uc003hbk.2	+	8	3740	c.3349delA	c.(3349-3351)aaafs	p.K1117fs	KIAA1211_uc010iha.2_Frame_Shift_Del_p.K1110fs	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1117										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CAGAGAGGCCAAACAGGCAGA	0.507													-	57189704	A	-	57189704	7	5	65	1	0	1	0	1	0	0	0	0	8273	131	5	0	3371	0	KIAA1211	4	57189704	Frame_Shift_Del	DEL	A	TCGA-06-0875-01A-01W-0424-08	9614694	57189704	133964572	12	4180											
TLR2	7097	broad.mit.edu	37	chr4	154626088	154626088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagttgtgtcttcataagCgggacttcattcctggcaag	9	13	10	9	1	4	0	3	0	1	0	5	1	5	1	1	2	1	2	1	2	3	5	rs121917864		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr4:154626088C>T	uc003inq.3	+	2	2248	c.2029C>T	c.(2029-2031)Cgg>Tgg	p.R677W	TLR2_uc003inr.3_Missense_Mutation_p.R677W|TLR2_uc003ins.3_Missense_Mutation_p.R677W|TLR2_uc021xtl.1_Missense_Mutation_p.R677W	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	677	TIR.		R -> W.		cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTTCATAAGCGGGACTTCAT	0.443													T	154626088	C	T	154626088	3	4	65	1	0	0	0	0	1	0	0	0	16051	759	27	1	2031	1	TLR2	4	154626088	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	97436384	154626088	36528188	13	4181											
DNAH5	1767	broad.mit.edu	37	chr5	13735337	13735337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaggaatttgtgctcctcGtacagccctcgggcagcata	10	9	10	12	2	0	0	0	0	0	0	3	1	1	1	2	2	5	4	2	2	4	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:13735337G>A	uc003jfd.2	-	67	11706	c.11664C>T	c.(11662-11664)taC>taT	p.Y3888Y	DNAH5_uc003jfc.2_Silent_p.Y56Y	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3888					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.Y3888*(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TGTGCTCCTCGTACAGCCCTC	0.458									Kartagener syndrome				A	13735337	G	A	13735337	2	1	65	1	0	0	0	0	0	0	0	1	4643	1140	40	1		1	DNAH5	5	13735337	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08		13735337	167179923	14	4182											
PCDHAC2	56137	broad.mit.edu	37	chr5	140256980	140256980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcctggatgaggcggaCgctccgcgccaccgcctgct	5	6	13	17	6	0	1	0	1	0	0	2	3	2	3	5	3	1	3	5	3	0	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:140256980C>T	uc003lic.2	+	0	2050	c.1923C>T	c.(1921-1923)gaC>gaT	p.D641D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.D641D	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	652	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGAGGCGGACGCTCCGCGCC	0.692													T	140256980	C	T	140256980	2	4	65	1	0	0	0	0	0	0	0	1	11609	535	19	1		1	PCDHAC2	5	140256980	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	126521643	140256980	40658280	15	4183											
IL12B	3593	broad.mit.edu	37	chr5	158743755	158743755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtagcggtcctgggcccGcacgctaatgctggcatttt	7	11	12	11	3	0	0	0	0	0	0	1	0	1	0	2	3	2	5	2	3	3	5			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr5:158743755G>A	uc003lxr.1	-	6	967	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RNU4ATAC_uc021ygw.1_5'Flank	NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	309	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTGGGCCCGCACGCTAATG	0.562											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	158743755	G	A	158743755	3	1	65	1	0	0	0	0	1	0	0	0	7683	1086	38	1	65	1	IL12B	5	158743755	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	18486775	158743755	22171505	16	4184											
KDM1B	221656	broad.mit.edu	37	chr6	18207666	18207666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaccacaatgaattctttgCccagtttgctggtgaccaca	10	11	9	11	0	1	2	0	2	1	0	1	3	1	3	3	2	2	2	3	2	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:18207666C>T	uc003nco.1	+	8	1163	c.1088C>T	c.(1087-1089)gCc>gTc	p.A363V	KDM1B_uc003ncn.1_Missense_Mutation_p.A334V	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	566	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GAATTCTTTGCCCAGTTTGCT	0.502													T	18207666	C	T	18207666	3	4	65	1	0	0	0	0	1	0	0	0	8181	739	26	2	1039	2	KDM1B	6	18207666	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		18207666	152907401	17	4185											
HIST1H3J	8356	broad.mit.edu	37	chr6	27858448	27858451	+	Frame_Shift_Del	DEL	GCGG	GCGG	-																															gccacggtgcctggcctgtaGcggtggggcttcttcacacc																										TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:27858448_27858451delGCGG	uc003nka.3	-	0	120_123	c.120_123delCCGC	c.(118-123)caccgcfs	p.H40fs	HIST1H2BO_uc003nkc.1_5'Flank	NM_003535	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3j (HIST1H3J), mRNA.	40					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	8						CTGGCCTGTAGCGGTGGGGCTTCT	0.632													-	27858451	GCGG	-	27858448	7	5	65	1	0	1	0	1	0	0	0	0	7219	958	34	0	291	0	HIST1H3J	6	27858448	Frame_Shift_Del	DEL	GCGG	TCGA-06-0875-01A-01W-0424-08	9650782	27858448	143256619	18	4186											
PRSS35	167681	broad.mit.edu	37	chr6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccgaagggctgggcaCgaggaggcatgggggacgct	9	5	18	9	3	0	0	0	0	0	0	1	4	1	2	1	6	0	4	1	6	1	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:84233953C>T	uc003pjz.3	+	1	1033	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_uc010kbm.3_Nonsense_Mutation_p.R265*|PRSS35_uc021zce.1_Nonsense_Mutation_p.R265*	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A264T(1)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527													T	84233953	C	T	84233953	4	4	65	1	0	0	0	0	0	1	0	0	12709	528	19	1	795	1	PRSS35	6	84233953	Nonsense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	56375505	84233953	86881114	19	4187											
WISP3	8838	broad.mit.edu	37	chr6	112385979	112385979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtagctgttgggtgcgAgttcaaccaggtacattatc	8	13	11	9	1	1	0	1	0	0	0	2	1	1	0	2	2	4	5	2	2	4	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr6:112385979A>G	uc003pvo.3	+	2	558	c.422A>G	c.(421-423)gAg>gGg	p.E141G	WISP3_uc003pvm.3_Missense_Mutation_p.E123G|WISP3_uc003pvn.3_Non-coding_Transcript	NM_198239	NP_003871	O95389	WISP3_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 3 (WISP3), transcript variant 3, mRNA.	123					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		GTTGGGTGCGAGTTCAACCAG	0.458													G	112385979	A	G	112385979	3	3	65	1	0	0	0	0	1	0	0	0	17476	304	11	3	432	3	WISP3	6	112385979	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	28152026	112385979	58729088	20	4188											
GPR141	353345	broad.mit.edu	37	chr7	37780069	37780069	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttaatcagcctctactTcatagtgcttattggcgggc	8	13	8	12	1	3	0	2	0	1	0	3	0	3	0	2	2	3	1	2	2	4	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:37780069T>A	uc003tfm.1	+	0	74	c.74T>A	c.(73-75)tTc>tAc	p.F25Y	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	25						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGCCTCTACTTCATAGTGCTT	0.493													A	37780069	T	A	37780069	3	1	65	1	0	0	0	0	1	0	0	0	6703	1783	62	5	76	5	GPR141	7	37780069	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08		37780069	121358594	21	4189											
AMPH	273	broad.mit.edu	37	chr7	38530706	38530706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttagcaaggacccatccaCgagtttttgatggaagtctt	10	13	10	8	1	1	1	0	1	1	0	2	4	2	3	2	2	1	3	2	2	3	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:38530706C>T	uc003tgu.3	-	4	556	c.340G>A	c.(340-342)Gtg>Atg	p.V114M	AMPH_uc003tgv.3_Missense_Mutation_p.V114M	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	114	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.V114M(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						GACCCATCCACGAGTTTTTGA	0.403													T	38530706	C	T	38530706	3	4	65	1	0	0	0	0	1	0	0	0	588	536	19	1	1815	1	AMPH	7	38530706	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	750637	38530706	120607957	22	4190											
ABCB4	5244	broad.mit.edu	37	chr7	87035603	87035603	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagctactctttaacttaCgtggggtaacgtctcgatga	9	14	9	9	3	3	1	1	1	2	0	4	2	3	1	0	2	5	2	0	2	4	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:87035603C>T	uc003uiv.1	-	26	3583	c.3507_splice	c.e26+1	p.H1169_splice	ABCB4_uc003uiw.1_Splice_Site_p.H1162_splice|ABCB4_uc003uix.1_Splice_Site_p.H1115_splice	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	1169	ABC transporter 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTTAACTTACGTGGGGTAAC	0.393													T	87035603	C	T	87035603	5	4	65	1	0	0	0	0	0	0	1	0	43	550	19	1	364	1	ABCB4	7	87035603	Splice_Site	SNP	C	TCGA-06-0875-01A-01W-0424-08	48504897	87035603	72103060	23	4191											
SAMD9L	219285	broad.mit.edu	37	chr7	92763951	92763951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagattcaggatcaaacTccaacacagcaaaccattta	17	9	4	11	0	3	1	3	0	0	1	4	2	4	2	2	1	4	1	2	1	5	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:92763951T>C	uc003umh.1	-	4	2550	c.1334A>G	c.(1333-1335)gAg>gGg	p.E445G	SAMD9L_uc003umj.1_Missense_Mutation_p.E445G|SAMD9L_uc003umi.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfb.1_Missense_Mutation_p.E445G|SAMD9L_uc003umk.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfc.1_Missense_Mutation_p.E445G|SAMD9L_uc010lfd.1_Missense_Mutation_p.E445G|SAMD9L_uc022ahh.1_Missense_Mutation_p.E445G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	445										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AGGATCAAACTCCAACACAGC	0.343													C	92763951	T	C	92763951	3	2	65	1	0	0	0	0	1	0	0	0	13918	1551	54	3	3424	3	SAMD9L	7	92763951	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	5728348	92763951	66374712	24	4192											
TFPI2	7980	broad.mit.edu	37	chr7	93518519	93518519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacactcacttgcagccgGcaaactttgggaacttctag	10	10	8	13	1	2	0	1	0	1	0	3	1	3	1	2	2	4	2	2	2	3	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:93518519G>A	uc003umy.1	-	2	363	c.288C>T	c.(286-288)tgC>tgT	p.C96C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C96C|TFPI2_uc003una.1_Silent_p.C85C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	96	BPTI/Kunitz inhibitor 2.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			CTTGCAGCCGGCAAACTTTGG	0.398													A	93518519	G	A	93518519	2	1	65	1	0	0	0	0	0	0	0	1	15909	1195	42	2		2	TFPI2	7	93518519	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	754568	93518519	65620144	25	4193											
CYP3A43	64816	broad.mit.edu	37	chr7	99447306	99447306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggattttttggatcccttttTactcttaatatgtatgtgga	8	20	8	5	0	1	0	0	0	1	0	2	3	2	3	1	3	1	1	1	3	4	9			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:99447306T>C	uc003ury.1	+	6	762	c.659T>C	c.(658-660)tTa>tCa	p.L220S	CYP3A43_uc003urx.1_Missense_Mutation_p.L220S|CYP3A43_uc003urz.1_Missense_Mutation_p.L220S|CYP3A43_uc003usa.1_Non-coding_Transcript|CYP3A43_uc010lgi.1_Intron|CYP3A43_uc003usb.1_Silent_p.F82F	NM_022820	NP_073731	Q9HB55	CP343_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 43 (CYP3A43), transcript variant 1, mRNA.	220			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	GATCCCTTTTTACTCTTAATA	0.294													C	99447306	T	C	99447306	3	2	65	1	0	0	0	0	1	0	0	0	4212	1764	61	3	685	3	CYP3A43	7	99447306	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	5928787	99447306	59691357	26	4194											
CTAGE4	100128553	broad.mit.edu	37	chr7	143882703	143882703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttgctccaatcagcGgtccattgtttccagtggat	7	13	8	13	1	2	0	1	0	1	0	5	1	5	1	4	2	2	2	4	2	1	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr7:143882703G>A	uc010lpc.3	+	0	2156	c.2107G>A	c.(2107-2109)Ggt>Agt	p.G703S		NM_198495	NP_940897	Q8IX94	CTGE4_HUMAN	Homo sapiens CTAGE family, member 4 (CTAGE4), mRNA.	703	Pro-rich.					integral to membrane				endometrium(1)|ovary(2)	3						TCCAATCAGCGGTCCATTGTT	0.502													A	143882703	G	A	143882703	3	1	65	1	0	0	0	0	1	0	0	0	4026	1116	39	1	2109	1	CTAGE4	7	143882703	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	44435397	143882703	15255960	27	4195											
ADAM32	203102	broad.mit.edu	37	chr8	39080734	39080734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatgatctcgatgcacGttgtgagagtgtatttggaa	9	13	12	7	2	1	2	0	2	1	1	2	5	1	3	1	1	2	3	1	1	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39080734G>A	uc003xmt.4	+	13	1747	c.1502G>A	c.(1501-1503)cGt>cAt	p.R501H	ADAM32_uc011lch.2_Missense_Mutation_p.R402H|ADAM32_uc003xmu.4_Missense_Mutation_p.R395H|ADAM32_uc003xmv.3_Missense_Mutation_p.V23I	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	501	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTCGATGCACGTTGTGAGAGT	0.338													A	39080734	G	A	39080734	3	1	65	1	0	0	0	0	1	0	0	0	249	1145	40	1	1556	1	ADAM32	8	39080734	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		39080734	107283288	28	4196											
IDO1	3620	broad.mit.edu	37	chr8	39785510	39785510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcctgtgtgaaagctctgGtctccctgaggagctaccat	8	10	11	12	1	2	2	0	2	2	0	3	3	2	3	3	2	3	2	3	2	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:39785510G>C	uc003xnm.3	+	9	1132	c.1018G>C	c.(1018-1020)Gtc>Ctc	p.V340L		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	340					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	GAAAGCTCTGGTCTCCCTGAG	0.498													C	39785510	G	C	39785510	3	2	65	1	0	0	0	0	1	0	0	0	7559	1261	44	4	1056	4	IDO1	8	39785510	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	704776	39785510	106578512	29	4197											
NIPAL2	79815	broad.mit.edu	37	chr8	99215392	99215392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactggcaccactgttgtcGtattgtagagtttcgtggct	7	15	11	8	2	0	1	0	0	0	1	2	1	0	1	1	2	1	6	1	2	3	6	rs145862248	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr8:99215392G>A	uc003yim.1	-	7	1080	c.824C>T	c.(823-825)aCg>aTg	p.T275M	NIPAL2_uc011lgw.1_Missense_Mutation_p.T71M|NIPAL2_uc003yil.1_Missense_Mutation_p.T275M			Q9H841	NPAL2_HUMAN	Homo sapiens NIPA-like domain containing 2 (NIPAL2), mRNA.	275						integral to membrane				cervix(3)|kidney(1)|large_intestine(2)|lung(5)|stomach(1)	12						CACTGTTGTCGTATTGTAGAG	0.393													A	99215392	G	A	99215392	3	1	65	1	0	0	0	0	1	0	0	0	10501	1145	40	1	302	1	NIPAL2	8	99215392	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	59429882	99215392	47148630	30	4198											
KANK1	23189	broad.mit.edu	37	chr9	730069	730069	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcaattatttgggatataCctgtaagtgtgggggccttc	9	13	13	6	0	0	0	0	0	0	0	1	1	0	1	2	4	1	2	2	4	5	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:730069C>G	uc003zgl.1	+	7	3366	c.2717C>G	c.(2716-2718)aCc>aGc	p.T906S	KANK1_uc003zgm.3_Missense_Mutation_p.T906S|KANK1_uc003zgn.1_Missense_Mutation_p.T906S|KANK1_uc003zgs.1_Missense_Mutation_p.T748S|KANK1_uc010mgx.1_5'Flank|KANK1_uc010mgy.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	906					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		TTGGGATATACCTGTAAGTGT	0.473													G	730069	C	G	730069	3	3	65	1	0	0	0	0	1	0	0	0	8034	507	18	4	2727	4	KANK1	9	730069	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		730069	140483362	31	4199											
RUSC2	9853	broad.mit.edu	37	chr9	35560384	35560384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggagacagaagaGgtggcagaggcagccggggg	14	1	21	5	1	0	6	0	0	0	6	0	8	0	6	1	6	1	2	1	6	3	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:35560384G>T	uc003zww.3	+	9	4002	c.3747G>T	c.(3745-3747)gaG>gaT	p.E1249D	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.E1249D	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1249	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			agacagaagaggtggcagagg	0.662													T	35560384	G	T	35560384	3	4	65	1	0	0	0	0	1	0	0	0	13842	991	35	4	3781	4	RUSC2	9	35560384	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	34830315	35560384	105653047	32	4200											
TMEM2	23670	broad.mit.edu	37	chr9	74305126	74305126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacaacaaggaggaggaCgcctgcacttcggaaggtaa	14	5	12	10	2	0	0	0	0	0	0	2	4	1	4	2	5	2	2	2	5	4	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:74305126C>T	uc011lsa.1	-	21	4273	c.3733G>A	c.(3733-3735)Gtc>Atc	p.V1245I	TMEM2_uc011lrz.1_Missense_Mutation_p.V238I|TMEM2_uc010mos.2_Missense_Mutation_p.V1182I|TMEM2_uc011lsb.1_Non-coding_Transcript|TMEM2_uc004aik.2_Missense_Mutation_p.V79I	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1245						integral to membrane		p.G1244G(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGGAGGACGCCTGCACTT	0.453													T	74305126	C	T	74305126	3	4	65	1	0	0	0	0	1	0	0	0	16221	536	19	1	430	1	TMEM2	9	74305126	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	38744742	74305126	66908305	33	4201											
TMC1	117531	broad.mit.edu	37	chr9	75387401	75387401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattggatggatgaatttcAggttgccgctctcctatttt	8	16	9	8	1	2	1	1	1	1	0	3	3	2	3	2	3	1	2	2	3	3	6	rs111839361		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:75387401A>T	uc004aiz.1	+	12	1354	c.814A>T	c.(814-816)Agg>Tgg	p.R272W	TMC1_uc010moz.1_Missense_Mutation_p.R230W|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R126W|TMC1_uc010mpa.1_Missense_Mutation_p.R126W	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	272					sensory perception of sound	integral to membrane		p.R272K(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GATGAATTTCAGGTTGCCGCT	0.398													T	75387401	A	T	75387401	3	4	65	1	0	0	0	0	1	0	0	0	16084	179	7	5	848	5	TMC1	9	75387401	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	1082275	75387401	65826030	34	4202											
AGPAT2	10555	broad.mit.edu	37	chr9	139568283	139568283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtggaggaaggtggtcCtcatggcccggtggcaggtg	7	8	19	7	1	1	1	1	0	0	1	2	3	2	3	2	8	0	1	2	8	1	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr9:139568283C>A	uc004cii.1	-	5	860	c.758G>T	c.(757-759)aGg>aTg	p.R253M	AGPAT2_uc004cij.1_Missense_Mutation_p.R221M	NM_006412	NP_006403	O15120	PLCB_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta) (AGPAT2), transcript variant 1, mRNA.	253					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GAAGGTGGTCCTCATGGCCCG	0.682													A	139568283	C	A	139568283	3	1	65	1	0	0	0	0	1	0	0	0	387	681	24	4	82	4	AGPAT2	9	139568283	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	64180882	139568283	1645148	35	4203											
PTEN	5728	broad.mit.edu	37	chr10	89717712	89717712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactttgagttccctcagcCgttacctgtgtgtggtgata	6	15	11	9	1	1	2	1	2	0	0	2	2	2	2	3	1	3	3	3	1	3	5			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89717712C>T	uc001kfb.3	+	6	1769	c.737C>T	c.(736-738)cCg>cTg	p.P246L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	246	C2 tensin-type.		P -> L (in CD and BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P246L(15)|p.Q245*(8)|p.R55fs*1(5)|p.P246fs*11(3)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.P246_L247insGP(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.Q245fs*8(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.F243fs*9(1)|p.Q245fs*20(1)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCCCTCAGCCGTTACCTGTG	0.418		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717712	C	T	89717712	3	4	65	1	0	0	0	0	1	0	0	0	12823	652	23	1	763	1	PTEN	10	89717712	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		89717712	45817035	36	4204											
PTEN	5728	broad.mit.edu	37	chr10	89720659	89720659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttttttaggacaaaatGtttcacttttgggtaaatac	11	20	6	4	0	1	0	1	0	0	0	1	1	1	1	0	2	1	2	0	2	6	10			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr10:89720659G>A	uc001kfb.3	+	7	1842	c.810G>A	c.(808-810)atG>atA	p.M270I	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	270	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M270I(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACAAAATGTTTCACTTTT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720659	G	A	89720659	3	1	65	1	0	0	0	0	1	0	0	0	12823	1377	48	2	840	2	PTEN	10	89720659	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	2947	89720659	45814088	37	4205											
MRGPRE	116534	broad.mit.edu	37	chr11	3249621	3249621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggtggtcaggtggcGtgggcggcggcacgagtacc	7	5	18	11	4	1	0	1	0	0	0	1	1	1	0	1	7	1	2	1	7	1	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:3249621G>A	uc021qcj.1	-	0	406	c.406C>T	c.(406-408)Cgc>Tgc	p.R136C	MRGPRE_uc001lxq.4_Missense_Mutation_p.R136C	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	136						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R136C(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCAGGTGGCGTGGGCGGCGG	0.692													A	3249621	G	A	3249621	3	1	65	1	0	0	0	0	1	0	0	0	9840	1145	40	1	533	1	MRGPRE	11	3249621	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		3249621	131756895	38	4206											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077538	19077538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtctggggcggcggcagcGataccagatgggccacagga	8	5	18	10	3	1	1	0	0	1	1	1	3	1	2	2	6	2	1	2	6	1	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:19077538G>A	uc001mph.3	-	1	500	c.412C>T	c.(412-414)Cgc>Tgc	p.R138C	MRGPRX2_uc021qer.1_Missense_Mutation_p.R138C	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	138					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CGGCGGCAGCGATACCAGATG	0.617													A	19077538	G	A	19077538	3	1	65	1	0	0	0	0	1	0	0	0	9843	1058	37	1	584	1	MRGPRX2	11	19077538	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	15827917	19077538	115928978	39	4207											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45925671	45925671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggggtgtctttcctgcctAttacgccatcgaggtcacca	6	11	10	14	3	2	0	1	0	1	0	4	1	3	0	5	3	2	0	5	3	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:45925671A>G	uc001nbr.3	+	6	1950	c.1625A>G	c.(1624-1626)tAt>tGt	p.Y542C		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	542	SH3.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.Y542C(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TTTCCTGCCTATTACGCCATC	0.602													G	45925671	A	G	45925671	3	3	65	1	0	0	0	0	1	0	0	0	9359	449	16	3	1651	3	MAPK8IP1	11	45925671	Missense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08	26848133	45925671	89080845	40	4208											
OR5R1	219479	broad.mit.edu	37	chr11	56185215	56185215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccacagtaagtcagaCggaaagtgataacggtgtgg	12	8	15	6	2	1	2	1	1	0	1	1	3	1	3	1	4	1	1	1	4	3	3	rs138983419	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56185215C>T	uc010rji.2	-	0	494	c.494G>A	c.(493-495)cGt>cAt	p.R165H	OR8U8_uc001nit.2_Intron	NM_001004744	NP_001004744	Q8NH85	OR5R1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily R, member 1 (OR5R1), mRNA.	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GTAAGTCAGACGGAAAGTGAT	0.438													T	56185215	C	T	56185215	3	4	65	1	0	0	0	0	1	0	0	0	11256	536	19	1	482	1	OR5R1	11	56185215	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	10259544	56185215	78821301	41	4209											
LRRC55	219527	broad.mit.edu	37	chr11	56950146	56950146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcgaaaccggatccagcGctgtacagcaggtaatagag	12	6	13	10	3	0	1	0	0	0	1	1	3	1	2	2	2	5	5	2	2	4	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:56950146G>A	uc001njl.2	+	0	926	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	230	LRRCT.					integral to membrane		p.R260H(2)|p.R260C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CGGATCCAGCGCTGTACAGCA	0.607													A	56950146	G	A	56950146	3	1	65	1	0	0	0	0	1	0	0	0	9081	1087	38	1	781	1	LRRC55	11	56950146	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	764931	56950146	78056370	42	4210											
RNF169	254225	broad.mit.edu	37	chr11	74546969	74546969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacagatctttcaggagCggcagatcaaaaagaccctt	14	7	11	9	1	3	3	2	0	1	3	3	5	3	5	1	3	2	1	1	3	3	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr11:74546969C>T	uc001ovl.4	+	5	1334	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	XRRA1_uc001ovm.2_Intron	NM_001098638	NP_001092108	Q8NCN4	RN169_HUMAN	Homo sapiens ring finger protein 169 (RNF169), mRNA.	441							zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	15						CTTTCAGGAGCGGCAGATCAA	0.478													T	74546969	C	T	74546969	3	4	65	1	0	0	0	0	1	0	0	0	13551	759	27	1	1343	1	RNF169	11	74546969	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	17596823	74546969	60459547	43	4211											
C12orf4	57102	broad.mit.edu	37	chr12	4643363	4643363	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtactcgccagctgatgtAaatctacttcacctgatttc	10	14	6	11	1	2	2	1	2	1	0	4	2	2	2	2	0	3	3	2	0	4	5			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:4643363A>C	uc001qms.3	-	2	372	c.284T>G	c.(283-285)tTa>tGa	p.L95*	C12orf4_uc001qmt.3_Nonsense_Mutation_p.L95*	NM_020374	NP_065107	Q9NQ89	CL004_HUMAN	Homo sapiens chromosome 12 open reading frame 4 (C12orf4), mRNA.	95										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		CAGCTGATGTAAATCTACTTC	0.393													C	4643363	A	C	4643363	4	2	65	1	0	0	0	0	0	1	0	0	1698	372	13	5	1422	5	C12orf4	12	4643363	Nonsense_Mutation	SNP	A	TCGA-06-0875-01A-01W-0424-08		4643363	129208532	44	4212											
CLSTN3	9746	broad.mit.edu	37	chr12	7295764	7295764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctggggcccaggtccaCgtgaacccctcacagtccct	6	8	11	16	1	2	1	1	1	1	0	4	1	4	1	5	3	1	0	5	3	1	0	rs143198009	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:7295764C>T	uc001qss.3	+	10	2278	c.1740C>T	c.(1738-1740)caC>caT	p.H580H	CLSTN3_uc001qsr.3_Silent_p.H568H	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	568					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCCAGGTCCACGTGAACCCCT	0.612													T	7295764	C	T	7295764	2	4	65	1	0	0	0	0	0	0	0	1	3594	535	19	1		1	CLSTN3	12	7295764	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	2652401	7295764	126556131	45	4213											
PPP1CC	5501	broad.mit.edu	37	chr12	111168342	111168342	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagtacttacattcatcaTaaaatccataaattctgttg	17	14	3	7	0	3	0	2	0	1	0	4	0	4	0	1	0	2	2	1	0	8	7			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:111168342T>A	uc001tru.3	-	2	681	c.410A>T	c.(409-411)tAt>tTt	p.Y137F	PPP1CC_uc021rdx.1_Missense_Mutation_p.Y137F	NM_002710	NP_002701	P36873	PP1G_HUMAN	Homo sapiens protein phosphatase 1, catalytic subunit, gamma isozyme (PPP1CC), transcript variant 1, mRNA.	137					cell division|glycogen metabolic process|mitotic prometaphase|triglyceride catabolic process	cleavage furrow|condensed chromosome kinetochore|cytosol|midbody|MLL5-L complex|nuclear speck|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein kinase binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|large_intestine(2)|lung(3)	6						ACATTCATCATAAAATCCATA	0.308													A	111168342	T	A	111168342	3	1	65	1	0	0	0	0	1	0	0	0	12433	1406	49	5	581	5	PPP1CC	12	111168342	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	103872578	111168342	22683553	46	4214											
DNAH10	196385	broad.mit.edu	37	chr12	124416577	124416577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccctaatatctggagaagGcttgctcctgacaccttaaa	12	11	7	11	0	1	2	0	1	1	1	3	3	3	2	3	2	1	2	3	2	5	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr12:124416577G>A	uc001uft.4	+	74	12889	c.12864G>A	c.(12862-12864)agG>agA	p.R4288R	DNAH10_uc001ufu.4_Silent_p.R201R	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	4288					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCTGGAGAAGGCTTGCTCCTG	0.493													A	124416577	G	A	124416577	2	1	65	1	0	0	0	0	0	0	0	1	4637	1194	42	2		2	DNAH10	12	124416577	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	13248235	124416577	9435318	47	4215											
MDGA2	161357	broad.mit.edu	37	chr14	47351248	47351248	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgaaaggctacttaccActatatttgatcacacgaat	16	12	5	8	1	1	2	1	2	0	0	1	3	1	2	1	1	2	1	1	1	8	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:47351248A>G	uc001wwj.4	-	11	2574	c.2416_splice	c.e11+1	p.A806_splice	MDGA2_uc001wwh.4_Splice_Site|MDGA2_uc001wwi.4_Splice_Site_p.A508_splice|MDGA2_uc010ani.3_Splice_Site_p.A297_splice	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	737	MAM.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GCTACTTACCACTATATTTGA	0.313													G	47351248	A	G	47351248	2	3	65	1	0	0	0	0	0	0	0	1	9482	173	6	3		3	MDGA2	14	47351248	Silent	SNP	A	TCGA-06-0875-01A-01W-0424-08		47351248	59998292	48	4216											
CDKL1	8814	broad.mit.edu	37	chr14	50808934	50808934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggcttcacgtctctatGtatgcactagtgtaacaaat	10	15	7	9	1	3	0	1	0	2	0	4	0	3	0	0	1	2	4	0	1	5	6			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:50808934G>A	uc010anu.2	-	16	2386	c.2386C>T	c.(2386-2388)Cat>Tat	p.H796Y	CDKL1_uc001wxz.3_Missense_Mutation_p.H125Y	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	124						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					ACGTCTCTATGTATGCACTAG	0.333													A	50808934	G	A	50808934	3	1	65	1	0	0	0	0	1	0	0	0	3183	1377	48	2	727	2	CDKL1	14	50808934	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	3457686	50808934	56540606	49	4217											
NIN	51199	broad.mit.edu	37	chr14	51196324	51196324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcctgcagcagctggcGttgaagctgcagaaactgct	8	10	12	11	1	1	2	0	1	1	1	1	2	1	2	1	1	8	7	1	1	2	2	rs144624455	by1000genomes	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:51196324G>A	uc001wyi.3	-	28	6186	c.5995C>T	c.(5995-5997)Cgc>Tgc	p.R1999C	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R1999C|NIN_uc001wyk.3_Missense_Mutation_p.R1286C|NIN_uc001wyo.3_Missense_Mutation_p.R1999C|NIN_uc001wyn.3_Non-coding_Transcript	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	1999					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AGCAGCTGGCGTTGAAGCTGC	0.567			T	PDGFRB	MPD								A	51196324	G	A	51196324	3	1	65	1	0	0	0	0	1	0	0	0	10493	1145	40	1	566	1	NIN	14	51196324	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	387390	51196324	56153216	50	4218											
AK7	122481	broad.mit.edu	37	chr14	96949427	96949427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaattatggtttaacagaCgaagaaaaggcagaagagga	19	6	12	4	2	0	4	0	0	0	4	0	7	0	5	0	3	1	2	0	3	7	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr14:96949427C>T	uc001yfn.2	+	15	1889	c.1845C>T	c.(1843-1845)gaC>gaT	p.D615D		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	615					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GTTTAACAGACGAAGAAAAGG	0.507													T	96949427	C	T	96949427	2	4	65	1	0	0	0	0	0	0	0	1	444	535	19	1		1	AK7	14	96949427	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	45753103	96949427	10400113	51	4219											
NIPA1	123606	broad.mit.edu	37	chr15	23048832	23048832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcctattgcaatctaGtctgttttcatattagattt	10	18	5	8	0	3	1	1	0	2	1	4	1	4	1	1	0	2	3	1	0	6	8			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:23048832G>T	uc001yvc.3	-	4	1012	c.987C>A	c.(985-987)gaC>gaA	p.D329E	NIPA1_uc001yvd.3_Missense_Mutation_p.D159E|NIPA1_uc001yve.3_Missense_Mutation_p.D254E	NM_144599	NP_001135747	Q7RTP0	NIPA1_HUMAN	Homo sapiens non imprinted in Prader-Willi/Angelman syndrome 1 (NIPA1), transcript variant 1, mRNA.	329					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		TTGCAATCTAGTCTGTTTTCA	0.453													T	23048832	G	T	23048832	3	4	65	1	0	0	0	0	1	0	0	0	10498	1020	36	4	6	4	NIPA1	15	23048832	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		23048832	79482560	52	4220											
AKAP13	11214	broad.mit.edu	37	chr15	86270682	86270682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgttggacaccagagccCgagaattaaaaggtgaggca	16	6	12	7	1	0	3	0	1	0	2	0	5	0	4	2	3	1	2	2	3	4	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:86270682C>G	uc002blv.1	+	28	7245	c.7075C>G	c.(7075-7077)Cga>Gga	p.R2359G	AKAP13_uc002blu.1_Missense_Mutation_p.R2363G|AKAP13_uc010bnf.1_Missense_Mutation_p.R980G|AKAP13_uc002blw.1_Missense_Mutation_p.R824G|AKAP13_uc002blx.1_Missense_Mutation_p.R604G	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2359	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CACCAGAGCCCGAGAATTAAA	0.448													G	86270682	C	G	86270682	3	3	65	1	0	0	0	0	1	0	0	0	449	644	23	4	7255	4	AKAP13	15	86270682	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	63221850	86270682	16260710	53	4221											
ACAN	176	broad.mit.edu	37	chr15	89417650	89417650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctagccaccacctacaaaCgcagactacagaagcggagc	14	4	8	15	2	0	2	0	0	0	2	1	3	1	3	4	1	6	1	4	1	5	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr15:89417650C>T	uc010upo.1	+	17	7905	c.7531C>T	c.(7531-7533)Cgc>Tgc	p.R2511C	ACAN_uc010upp.1_Missense_Mutation_p.R2412C|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2511					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CACCTACAAACGCAGACTACA	0.612													T	89417650	C	T	89417650	3	4	65	1	0	0	0	0	1	0	0	0	117	536	19	1	7597	1	ACAN	15	89417650	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	3146968	89417650	13113742	54	4222											
CLCN7	1186	broad.mit.edu	37	chr16	1507256	1507256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacaagatttcaactcaccTtgaaatctcgtttcagtgac	13	12	5	11	1	4	3	3	2	1	1	5	3	4	3	1	0	1	1	1	0	3	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:1507256T>C	uc002clv.2	-	9	932	c.822_splice	c.e9+1	p.K274_splice	CLCN7_uc002clw.2_Splice_Site_p.K250_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	274						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592													C	1507256	T	C	1507256	3	2	65	1	0	0	0	0	1	0	0	0	3499	1623	56	3	1664	3	CLCN7	16	1507256	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08		1507256	88847497	55	4223											
COG4	25839	broad.mit.edu	37	chr16	70551628	70551628	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctttgcatctccctcaatCagctgcagattaggactgga	9	12	9	11	0	3	1	2	0	1	1	4	3	3	3	1	2	4	4	1	2	2	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:70551628C>G	uc002ezc.3	-	2	281	c.270G>C	c.(268-270)ctG>ctC	p.L90L	COG4_uc002ezd.3_Silent_p.L90L|COG4_uc010cfu.3_Non-coding_Transcript|COG4_uc002eze.3_5'UTR	NM_015386	NP_056201	Q9H9E3	COG4_HUMAN	Homo sapiens component of oligomeric golgi complex 4 (COG4), transcript variant 1, mRNA.	86	Interacts with STX5.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CTCCCTCAATCAGCTGCAGAT	0.453													G	70551628	C	G	70551628	2	3	65	1	0	0	0	0	0	0	0	1	3691	813	29	4		4	COG4	16	70551628	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	69044372	70551628	19803125	56	4224											
TAT	6898	broad.mit.edu	37	chr16	71603782	71603782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatagccccagaagggCggactggccggagtccaggg	9	4	17	11	2	0	1	0	0	0	1	1	3	1	3	4	6	2	1	4	6	3	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:71603782C>T	uc002fap.2	-	9	1199	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_000353	NP_000344	P17735	ATTY_HUMAN	Homo sapiens tyrosine aminotransferase (TAT), nuclear gene encoding mitochondrial protein, mRNA.	367					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	CCCAGAAGGGCGGACTGGCCG	0.512													T	71603782	C	T	71603782	3	4	65	1	0	0	0	0	1	0	0	0	15687	768	27	1	276	1	TAT	16	71603782	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	1052154	71603782	18750971	57	4225											
KARS	3735	broad.mit.edu	37	chr16	75665416	75665416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtggggtgaagtcaacatCgtaggcttggccctctgggc	6	9	17	9	1	2	1	1	1	1	0	3	1	2	1	1	6	1	2	1	6	3	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:75665416C>T	uc002feq.3	-	8	1198	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	KARS_uc002fer.3_Missense_Mutation_p.D412N	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	384					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	AAGTCAACATCGTAGGCTTGG	0.517													T	75665416	C	T	75665416	3	4	65	1	0	0	0	0	1	0	0	0	8038	884	31	1	667	1	KARS	16	75665416	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	4061634	75665416	14689337	58	4226											
USP10	9100	broad.mit.edu	37	chr16	84812553	84812553	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattacactacagacgtCttccagatcggtctgaatgg	10	10	10	11	2	2	3	0	1	2	2	4	3	3	3	2	3	2	0	2	3	3	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr16:84812553C>A	uc010voe.2	+	14	2525	c.2274C>A	c.(2272-2274)gtC>gtA	p.V758V	USP10_uc002fii.3_Silent_p.V754V|USP10_uc010vof.2_Silent_p.V316V|USP10_uc002fij.3_Silent_p.V280V	NM_005153	NP_005144	Q14694	UBP10_HUMAN	Homo sapiens ubiquitin specific peptidase 10 (USP10), mRNA.	754					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I757N(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						CTACAGACGTCTTCCAGATCG	0.567													A	84812553	C	A	84812553	2	1	65	1	0	0	0	0	0	0	0	1	17143	900	32	4		4	USP10	16	84812553	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08	9147137	84812553	5542200	59	4227											
WSCD1	23302	broad.mit.edu	37	chr17	5991317	5991317	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctttctgcaggcacctaCattggatgcttcagtgacga	8	12	9	12	1	2	1	1	1	1	0	3	3	3	2	2	2	3	3	2	2	1	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:5991317C>T	uc010cli.3	+	2	814	c.435C>T	c.(433-435)taC>taT	p.Y145Y	WSCD1_uc002gcn.3_Silent_p.Y145Y|WSCD1_uc002gco.3_Silent_p.Y145Y|WSCD1_uc010clj.3_Intron	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	145	WSC 1.					integral to membrane	sulfotransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						CAGGCACCTACATTGGATGCT	0.537													T	5991317	C	T	5991317	2	4	65	1	0	0	0	0	0	0	0	1	17508	489	17	2		2	WSCD1	17	5991317	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08		5991317	75203893	60	4228											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	65	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	1585777	7577094	73618116	61	4229											
SLC13A2	9058	broad.mit.edu	37	chr17	26816246	26816246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggaggcctactgcgcGtatgccatcatcctcatggc	7	9	11	14	2	2	0	2	0	0	0	3	1	3	1	3	3	4	2	3	3	2	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:26816246G>A	uc010wan.2	+	1	184	c.117G>A	c.(115-117)gcG>gcA	p.A39A	SLC13A2_uc010wal.1_Intron|SLC13A2_uc010wam.2_5'UTR|SLC13A2_uc002hbh.3_Silent_p.A39A|SLC13A2_uc010wao.2_Intron|SLC13A2_uc002hbi.3_5'UTR	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	39						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity	p.A39V(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTACTGCGCGTATGCCATCA	0.612													A	26816246	G	A	26816246	2	1	65	1	0	0	0	0	0	0	0	1	14486	1132	40	1		1	SLC13A2	17	26816246	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	19239152	26816246	54378964	62	4230											
SLC16A6	9120	broad.mit.edu	37	chr17	66267054	66267054	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcagaagacatcttcTcaatgcccacgacatcatcc	12	8	6	15	1	3	2	2	0	2	2	5	3	4	2	2	0	3	2	2	0	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:66267054T>G	uc002jha.2	-	5	1560	c.1247A>C	c.(1246-1248)gAg>gCg	p.E416A	ARSG_uc002jhc.2_Intron|SLC16A6_uc002jgz.2_Missense_Mutation_p.E416A	NM_001174166	NP_004685	O15403	MOT7_HUMAN	Homo sapiens solute carrier family 16, member 6 (monocarboxylic acid transporter 7) (SLC16A6), transcript variant 1, mRNA.	416						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	AGACATCTTCTCAATGCCCAC	0.458													G	66267054	T	G	66267054	3	3	65	1	0	0	0	0	1	0	0	0	14506	1551	54	5	332	5	SLC16A6	17	66267054	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	39450808	66267054	14928156	63	4231											
GPS1	2873	broad.mit.edu	37	chr17	80014960	80014960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagggagccagggggagcTgactccagccaacagccagt	12	3	15	11	0	0	2	0	1	0	1	1	4	1	4	4	3	5	1	4	3	2	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr17:80014960T>C	uc002kdk.1	+	12	1961	c.1541T>C	c.(1540-1542)cTg>cCg	p.L514P	GPS1_uc002kdl.1_Missense_Mutation_p.L478P|GPS1_uc010dij.1_Missense_Mutation_p.L513P|GPS1_uc002kdm.1_Missense_Mutation_p.L458P|GPS1_uc002kdn.1_Missense_Mutation_p.L474P|GPS1_uc010wvh.1_Missense_Mutation_p.L470P	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	478					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CAGGGGGAGCTGACTCCAGCC	0.677													C	80014960	T	C	80014960	3	2	65	1	0	0	0	0	1	0	0	0	6787	1580	55	3	1640	3	GPS1	17	80014960	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	13747906	80014960	1180250	64	4232											
CIDEA	1149	broad.mit.edu	37	chr18	12262928	12262928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacaggagcagccggcGtggggtgatggcaagcagcc	9	4	17	11	2	0	2	0	2	0	0	0	3	0	3	3	5	4	3	3	5	1	0	rs149949331	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr18:12262928G>A	uc002kqt.4	+	1	208	c.143G>A	c.(142-144)cGt>cAt	p.R48H	CIDEA_uc002kqu.4_Missense_Mutation_p.R82H|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	48	CIDE-N.				DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						AGCAGCCGGCGTGGGGTGATG	0.622													A	12262928	G	A	12262928	3	1	65	1	0	0	0	0	1	0	0	0	3455	1145	40	1	293	1	CIDEA	18	12262928	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08		12262928	65814320	65	4233											
MUC16	94025	broad.mit.edu	37	chr19	9046404	9046404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actagtgatctgtgaagtcaCcatctctggtgcaccaggtg	9	11	11	10	0	3	2	1	2	2	0	4	2	3	2	2	2	1	1	2	2	2	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:9046404C>T	uc002mkp.3	-	4	35431	c.35227G>A	c.(35227-35229)Gtg>Atg	p.V11743M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11745	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7376M(1)|p.V11743M(1)		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						TGTGAAGTCACCATCTCTGGT	0.502													T	9046404	C	T	9046404	3	4	65	1	0	0	0	0	1	0	0	0	10049	507	18	2	8616	2	MUC16	19	9046404	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		9046404	50082579	66	4234											
HPN	3249	broad.mit.edu	37	chr19	35556818	35556818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggacagcatctctcggaCgccacgttggcggctgtgtg	6	9	15	11	4	1	1	0	1	1	0	3	3	1	3	1	4	1	3	1	4	0	1			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:35556818C>T	uc002nxq.2	+	12	1342	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	HPN_uc002nxr.2_Missense_Mutation_p.T366M|HPN_uc010xsh.1_Missense_Mutation_p.T335M|HPN_uc002nxt.1_Missense_Mutation_p.T250M|LOC100128675_uc010xsi.2_Intron	NM_002151	NP_892028	P05981	HEPS_HUMAN	Homo sapiens hepsin (HPN), transcript variant 2, mRNA.	366	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	ATCTCTCGGACGCCACGTTGG	0.632													T	35556818	C	T	35556818	3	4	65	1	0	0	0	0	1	0	0	0	7391	536	19	1	1139	1	HPN	19	35556818	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	26510414	35556818	23572165	67	4235											
NUCB1	4924	broad.mit.edu	37	chr19	49414468	49414468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggaccctcagaaccagCatacattcgaggcccgcgac	11	5	9	16	3	1	1	1	0	0	1	2	4	1	2	4	2	3	1	4	2	2	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:49414468C>G	uc002plb.4	+	4	773	c.439C>G	c.(439-441)Cat>Gat	p.H147D	NUCB1_uc002pla.3_Missense_Mutation_p.H147D|Mir_324_uc021uxb.1_5'Flank	NM_006184	NP_006175	Q02818	NUCB1_HUMAN	Homo sapiens nucleobindin 1 (NUCB1), mRNA.	147						ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		TCAGAACCAGCATACATTCGA	0.552													G	49414468	C	G	49414468	3	3	65	1	0	0	0	0	1	0	0	0	10794	710	25	4	453	4	NUCB1	19	49414468	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08	13857650	49414468	9714515	68	4236											
ZNF264	9422	broad.mit.edu	37	chr19	57722987	57722987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaaggattggacaggaGcaagtctctccaggagatag	12	9	13	7	0	2	1	1	0	1	1	4	5	3	4	1	4	1	2	1	4	3	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr19:57722987G>A	uc002qob.3	+	3	936	c.522G>A	c.(520-522)gaG>gaA	p.E174E		NM_003417	NP_003408	O43296	ZN264_HUMAN	Homo sapiens zinc finger protein 264 (ZNF264), mRNA.	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		TTGGACAGGAGCAAGTCTCTC	0.463													A	57722987	G	A	57722987	2	1	65	1	0	0	0	0	0	0	0	1	17905	962	34	2		2	ZNF264	19	57722987	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	8308519	57722987	1405996	69	4237											
CHGB	1114	broad.mit.edu	37	chr20	5904212	5904212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagaaattatctcaactaCggtgaggaaggagccccagg	14	6	12	9	1	1	2	1	1	1	1	2	5	1	4	2	4	3	0	2	4	5	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr20:5904212C>T	uc002wmg.3	+	3	1728	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	CHGB_uc010zqz.2_Silent_p.Y157Y	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	474						extracellular region	hormone activity	p.N473Y(1)|p.N473S(1)		breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATCTCAACTACGGTGAGGAAG	0.507													T	5904212	C	T	5904212	2	4	65	1	0	0	0	0	0	0	0	1	3369	547	19	1		1	CHGB	20	5904212	Silent	SNP	C	TCGA-06-0875-01A-01W-0424-08		5904212	57121308	70	4238											
TRPM2	7226	broad.mit.edu	37	chr21	45825917	45825917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagatcatcattgtgaagcgGatggtaagggggcgggggca	11	7	18	5	2	2	2	2	1	0	1	2	3	2	3	0	6	1	2	0	6	3	2			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chr21:45825917G>A	uc010gpt.1	+	17	2887	c.2787G>A	c.(2785-2787)cgG>cgA	p.R929R	TRPM2_uc002zet.1_Silent_p.R929R|TRPM2_uc002zeu.1_Silent_p.R929R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.R929R|TRPM2_uc002zex.1_Silent_p.R715R|TRPM2_uc002zey.1_Silent_p.R442R	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	929						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.R929W(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TTGTGAAGCGGATGGTAAGGG	0.627													A	45825917	G	A	45825917	2	1	65	1	0	0	0	0	0	0	0	1	16687	1161	41	2		2	TRPM2	21	45825917	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08		45825917	2303978	71	4239											
ASB11	140456	broad.mit.edu	37	chrX	15307657	15307657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtttcttcacacagtctacCctctggtaggtgcaggccac	8	11	9	13	0	4	0	1	0	3	0	4	0	4	0	2	3	2	3	2	3	2	4			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:15307657C>A	uc004cwp.2	-	4	643	c.624G>T	c.(622-624)agG>agT	p.R208S	ASB11_uc004cwo.2_Missense_Mutation_p.R187S|ASB11_uc010net.2_Missense_Mutation_p.R191S|ASB11_uc010nes.2_Non-coding_Transcript	NM_080873	NP_543149	Q8WXH4	ASB11_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 11 (ASB11), transcript variant 1, mRNA.	208					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					CACAGTCTACCCTCTGGTAGG	0.408													A	15307657	C	A	15307657	3	1	65	1	0	0	0	0	1	0	0	0	1020	622	22	4	359	4	ASB11	23	15307657	Missense_Mutation	SNP	C	TCGA-06-0875-01A-01W-0424-08		15307657	139962903	72	4240											
GRPR	2925	broad.mit.edu	37	chrX	16170433	16170433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtttgtgggcctgttcGccttctgctggctccccaat	2	15	12	12	1	1	0	0	0	1	0	3	0	2	0	4	3	1	4	4	3	1	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:16170433G>A	uc004cxj.3	+	2	1473	c.820G>A	c.(820-822)Gcc>Acc	p.A274T		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	274					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GGGCCTGTTCGCCTTCTGCTG	0.537													A	16170433	G	A	16170433	3	1	65	1	0	0	0	0	1	0	0	0	6863	1087	38	1	830	1	GRPR	23	16170433	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	862776	16170433	139100127	73	4241											
FTHL17	53940	broad.mit.edu	37	chrX	31089888	31089888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatgctccattttgtcGtccgacaggcgcaggaagta	8	10	13	10	3	0	0	0	0	0	0	3	2	2	1	2	3	1	4	2	3	2	3			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:31089888G>A	uc004dcl.1	-	0	283	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	61	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity	p.D61E(3)|p.S60S(1)|p.S60L(1)		endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						CCATTTTGTCGTCCGACAGGC	0.577													A	31089888	G	A	31089888	2	1	65	1	0	0	0	0	0	0	0	1	6135	1136	40	1		1	FTHL17	23	31089888	Silent	SNP	G	TCGA-06-0875-01A-01W-0424-08	14919455	31089888	124180672	74	4242											
PAGE2B	389860	broad.mit.edu	37	chrX	55103027	55103027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccactgaggaaaaacGtcaagaagaggaaccaccaa	18	2	11	10	1	1	3	1	1	0	2	1	6	1	6	3	3	3	0	3	3	6	0			TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:55103027G>A	uc004due.3	+	2	162	c.110G>A	c.(109-111)cGt>cAt	p.R37H	PAGE2B_uc022bxk.1_Missense_Mutation_p.R37H	NM_001015038	NP_001015038	Q5JRK9	GGEE3_HUMAN	Homo sapiens P antigen family, member 2B (PAGE2B), mRNA.	37										lung(3)	3						GAGGAAAAACGTCAAGAAGAG	0.443													A	55103027	G	A	55103027	3	1	65	1	0	0	0	0	1	0	0	0	11467	1145	40	1	116	1	PAGE2B	23	55103027	Missense_Mutation	SNP	G	TCGA-06-0875-01A-01W-0424-08	24013139	55103027	100167533	75	4243											
RPS6KA6	27330	broad.mit.edu	37	chrX	83320106	83320106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtccatatgaagcataTgggaaagcaaatcctaaatt	15	10	10	6	0	0	1	0	1	0	0	2	2	2	2	2	2	2	2	2	2	7	4	rs149201069	byFrequency	TCGA-06-0875-01A-01W-0424-08	TCGA-06-0875-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	862cc896-a0dc-4f02-9940-8c9a5016027b	bfdef984-b955-4781-a600-ccefd97274ce	g.chrX:83320106T>C	uc004eej.2	-	20	2021	c.1985A>G	c.(1984-1986)cAt>cGt	p.H662R	RPS6KA6_uc011mqt.2_Missense_Mutation_p.H662R|RPS6KA6_uc011mqu.2_Missense_Mutation_p.H559R	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	662	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						ATGAAGCATATGGGAAAGCAA	0.338													C	83320106	T	C	83320106	3	2	65	1	0	0	0	0	1	0	0	0	13746	1464	51	3	260	3	RPS6KA6	23	83320106	Missense_Mutation	SNP	T	TCGA-06-0875-01A-01W-0424-08	28217079	83320106	71950454	76	4244											
CSMD2	114784	broad.mit.edu	37	chr1	34070881	34070881	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggatgagggagcgacataCcttcacacttgggcaggggg	9	6	18	8	1	1	1	1	1	0	0	1	4	1	3	1	6	2	1	1	6	1	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:34070881C>T	uc001bxm.1	-	42	6709	c.6532_splice	c.e42+1	p.V2178_splice	CSMD2_uc001bxn.1_Splice_Site_p.V2180_splice|CSMD2_uc001bxo.1_Splice_Site_p.V1051_splice	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	2180	Sushi 12.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GAGCGACATACCTTCACACTT	0.587													T	34070881	C	T	34070881	5	4	66	1	0	0	0	0	0	0	1	0	3978	521	18	2	4032	2	CSMD2	1	34070881	Splice_Site	SNP	C	TCGA-06-0876-01A-01W-0424-08		34070881	215179740	1	4245											
CLSPN	63967	broad.mit.edu	37	chr1	36228771	36228775	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-																															ctttacttgccttgtgctttTttactttgttttttacagct																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:36228771_36228775delTTTAC	uc001bzi.3	-	3	810_814	c.730_734delGTAAA	c.(730-735)gtaaaafs	p.V244fs	CLSPN_uc009vux.3_Frame_Shift_Del_p.V244fs	NM_022111	NP_071394	Q9HAW4	CLSPN_HUMAN	Homo sapiens claspin (CLSPN), transcript variant 1, mRNA.	244					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTTGTGCTTTTTTACTTTGTTTTTT	0.322													-	36228775	TTTAC	-	36228771	7	5	66	1	0	1	0	1	0	0	0	0	3591	1841	64	0	3373	0	CLSPN	1	36228771	Frame_Shift_Del	DEL	TTTAC	TCGA-06-0876-01A-01W-0424-08	2157890	36228771	213021850	2	4246											
LRRC8B	23507	broad.mit.edu	37	chr1	90050043	90050043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcctgaataatttgcatGagttagacctaagggaaaat	15	11	9	6	0	1	3	1	2	0	1	1	4	1	4	2	1	2	2	2	1	6	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:90050043G>A	uc001dni.3	+	6	2341	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	LRRC8B_uc001dnh.3_Missense_Mutation_p.E612K|LRRC8B_uc001dnj.3_Missense_Mutation_p.E612K	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	612						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		TAATTTGCATGAGTTAGACCT	0.388													A	90050043	G	A	90050043	3	1	66	1	0	0	0	0	1	0	0	0	9092	1291	45	2	1836	2	LRRC8B	1	90050043	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	53821272	90050043	159200578	3	4247											
EPS8L3	79574	broad.mit.edu	37	chr1	110304367	110304367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctctgctgctgggccttGacatgttgacgctgctgagg	4	12	15	10	1	1	3	0	3	1	0	1	3	1	3	1	3	3	6	1	3	0	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:110304367G>A	uc001dyr.2	-	1	230	c.5C>T	c.(4-6)tCa>tTa	p.S2L	EPS8L3_uc001dys.2_Missense_Mutation_p.S2L|EPS8L3_uc001dyq.2_Missense_Mutation_p.S2L|EPS8L3_uc009wfm.2_Intron|EPS8L3_uc009wfn.2_5'UTR|EPS8L3_uc009wfo.2_Missense_Mutation_p.S2L	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	2						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GCTGGGCCTTGACATGTTGAC	0.612													A	110304367	G	A	110304367	3	1	66	1	0	0	0	0	1	0	0	0	5238	1294	45	2	1851	2	EPS8L3	1	110304367	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	20254324	110304367	138946254	4	4248											
VTCN1	79679	broad.mit.edu	37	chr1	117699295	117699295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttgcacgtttttcagccGcaaagaggcattgccaacta	11	10	10	10	2	1	1	1	0	0	1	1	2	1	1	2	1	4	5	2	1	3	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:117699295G>A	uc001ehb.3	-	2	451	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	VTCN1_uc021osn.1_Missense_Mutation_p.R21W|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.R21W|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	116	Ig-like V-type 1.					integral to membrane|plasma membrane		p.R116W(2)		large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTTTCAGCCGCAAAGAGGCA	0.458													A	117699295	G	A	117699295	3	1	66	1	0	0	0	0	1	0	0	0	17336	1086	38	1	514	1	VTCN1	1	117699295	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	7394928	117699295	131551326	5	4249											
DPT	1805	broad.mit.edu	37	chr1	168670256	168670256	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggggctgtctttctcaccTttccactgcagagaaagtgg	9	11	11	10	0	2	1	1	0	2	1	4	2	3	1	2	3	1	2	2	3	2	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:168670256T>A	uc001gfp.3	-	3	569	c.539_splice	c.e3+1	p.R180_splice		NM_001937	NP_001928	Q07507	DERM_HUMAN	Homo sapiens dermatopontin (DPT), mRNA.	180	2 X 53-55 AA tandem repeats.|3 X 6 AA repeats of D-R-[EQ]-W-[NQK]- [FY].				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTTTCTCACCTTTCCACTGCA	0.433													A	168670256	T	A	168670256	3	1	66	1	0	0	0	0	1	0	0	0	4778	1623	56	5	75	5	DPT	1	168670256	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	50970961	168670256	80580365	6	4250											
HHAT	55733	broad.mit.edu	37	chr1	210637955	210637955	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggactcactccacccgccctCccccgctgcgtgagcaccat	6	6	8	21	3	1	1	1	1	0	0	3	2	3	2	6	1	2	2	6	1	0	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:210637955C>T	uc010psr.2	+	6	1071	c.966C>T	c.(964-966)ctC>ctT	p.L322L	HHAT_uc009xcx.3_Silent_p.L321L|HHAT_uc010psq.2_Silent_p.L184L|HHAT_uc009xcy.3_Silent_p.L256L|HHAT_uc010pss.2_Silent_p.L276L|HHAT_uc010pst.2_Silent_p.L258L|HHAT_uc001hhz.4_Silent_p.L321L|HHAT_uc021pip.1_Silent_p.L321L|HHAT_uc010psu.2_Silent_p.L256L|HHAT_uc001hia.4_Silent_p.L11L	NM_001170587	NP_001164058	Q5VTY9	HHAT_HUMAN	Homo sapiens hedgehog acyltransferase (HHAT), transcript variant 5, mRNA.	321					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CACCCGCCCTCCCCCGCTGCG	0.592													T	210637955	C	T	210637955	2	4	66	1	0	0	0	0	0	0	0	1	7144	842	30	2		2	HHAT	1	210637955	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	41967699	210637955	38612666	7	4251											
CENPF	1063	broad.mit.edu	37	chr1	214819979	214819979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaaaccaagagcatgcaGctcttgaggcagagaattcc	14	6	11	10	0	1	3	0	1	1	2	2	5	2	4	2	2	4	4	2	2	3	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:214819979G>A	uc001hkm.3	+	12	7240	c.7066G>A	c.(7066-7068)Gct>Act	p.A2356T		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2452	2 X 177 AA tandem repeats.|Interaction with NDE1 and NDEL1.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGAGCATGCAGCTCTTGAGGC	0.438													A	214819979	G	A	214819979	3	1	66	1	0	0	0	0	1	0	0	0	3261	971	34	2	7112	2	CENPF	1	214819979	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	4182024	214819979	34430642	8	4252											
TTC13	79573	broad.mit.edu	37	chr1	231059600	231059600	+	Frame_Shift_Del	DEL	T	T	-																															ttcgtacctgattaaattaaTgtggttgttaaaacctctgc																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr1:231059600delT	uc001huf.4	-	14	1843	c.1801delA	c.(1801-1803)attfs	p.I601fs	TTC13_uc001hug.4_Frame_Shift_Del_p.I548fs|TTC13_uc009xfj.3_Non-coding_Transcript|TTC13_uc009xfk.2_Frame_Shift_Del_p.I491fs	NM_024525	NP_078801	Q8NBP0	TTC13_HUMAN	Homo sapiens tetratricopeptide repeat domain 13 (TTC13), transcript variant 1, mRNA.	601							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		ATTAAATTAATGTGGTTGTTA	0.438													-	231059600	T	-	231059600	7	5	66	1	0	1	0	1	0	0	0	0	16782	1464	51	0	817	0	TTC13	1	231059600	Frame_Shift_Del	DEL	T	TCGA-06-0876-01A-01W-0424-08	16239621	231059600	18191021	9	4253											
C2orf65	130951	broad.mit.edu	37	chr2	74787316	74787316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagtgtgggtggagccGcccctgaggcttggcataga	6	8	15	12	1	0	2	0	1	0	1	1	3	1	3	4	4	1	2	4	4	1	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:74787316G>A	uc002smy.3	-	8	1501	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	C2orf65_uc010ysa.2_Missense_Mutation_p.R462W|C2orf65_uc010ffp.3_Missense_Mutation_p.R111W	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	462					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						GGGTGGAGCCGCCCCTGAGGC	0.607													A	74787316	G	A	74787316	3	1	66	1	0	0	0	0	1	0	0	0	2205	1086	38	1	220	1	C2orf65	2	74787316	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		74787316	168412057	10	4254											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631554	128631554	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccggggaagagggctcagCgctcccgatgcgggattcat	7	6	17	11	4	2	1	2	0	0	1	3	4	3	3	2	5	2	2	2	5	1	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr2:128631554C>A	uc002tpl.3	-	2	506	c.255G>T	c.(253-255)gcG>gcT	p.A85A	AMMECR1L_uc002tpm.3_Silent_p.A85A	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	85										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GAGGGCTCAGCGCTCCCGATG	0.547													A	128631554	C	A	128631554	2	1	66	1	0	0	0	0	0	0	0	1	579	755	27	4		4	AMMECR1L	2	128631554	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	53844238	128631554	114567819	11	4255											
FRAS1	80144	broad.mit.edu	37	chr4	79385647	79385647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgatgattcgctgccCgtcgtacagaacttaggaat	9	11	10	11	4	0	2	0	1	0	1	3	4	0	3	2	1	3	2	2	1	4	3	rs150936204	by1000genomes	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:79385647C>T	uc003hlb.2	+	48	7379	c.6939C>T	c.(6937-6939)ccC>ccT	p.P2313P		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2312					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTCGCTGCCCGTCGTACAGA	0.537													T	79385647	C	T	79385647	2	4	66	1	0	0	0	0	0	0	0	1	6093	639	23	1		1	FRAS1	4	79385647	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		79385647	111768629	12	4256											
POU4F2	5458	broad.mit.edu	37	chr4	147561389	147561389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgccggctcacgcgcCgcacatggccaccatgaacc	8	4	10	19	5	1	1	1	1	0	0	2	1	2	1	6	2	1	2	6	2	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:147561389C>T	uc003ikv.3	+	1	907	c.659C>T	c.(658-660)cCg>cTg	p.P220L		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	220					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GCTCACGCGCCGCACATGGCC	0.726													T	147561389	C	T	147561389	3	4	66	1	0	0	0	0	1	0	0	0	12356	652	23	1	665	1	POU4F2	4	147561389	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	68175742	147561389	43592887	13	4257											
NR3C2	4306	broad.mit.edu	37	chr4	149357273	149357273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcagggctgtgcgacCtggagcctcgattttcaaca	8	10	12	11	2	1	0	1	0	0	0	2	3	1	1	2	2	4	2	2	2	1	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:149357273C>T	uc003ilj.4	-	1	1103	c.740G>A	c.(739-741)aGg>aAg	p.R247K	NR3C2_uc003ilk.4_Missense_Mutation_p.R247K|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	247	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.S246C(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	GCTGTGCGACCTGGAGCCTCG	0.532													T	149357273	C	T	149357273	3	4	66	1	0	0	0	0	1	0	0	0	10707	681	24	2	2246	2	NR3C2	4	149357273	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	1795884	149357273	41797003	14	4258											
FHDC1	85462	broad.mit.edu	37	chr4	153881733	153881733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggtaaagaagttaaaagCgtttagtggcgacgtgtcga	13	11	13	4	4	0	1	0	0	0	1	1	3	0	1	0	2	1	3	0	2	7	5	rs149221149		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr4:153881733C>T	uc003inf.2	+	3	755	c.680C>T	c.(679-681)gCg>gTg	p.A227V		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	227	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AAGTTAAAAGCGTTTAGTGGC	0.363													T	153881733	C	T	153881733	3	4	66	1	0	0	0	0	1	0	0	0	5925	768	27	1	694	1	FHDC1	4	153881733	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	4524460	153881733	37272543	15	4259											
PLEKHG4B	153478	broad.mit.edu	37	chr5	143328	143328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccaagcaggtgctggaCgtcagtcaggagctgctgca	8	7	15	11	1	2	0	2	0	0	0	2	2	2	2	1	3	6	5	1	3	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:143328C>T	uc003jak.2	+	1	626	c.576C>T	c.(574-576)gaC>gaT	p.D192D		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	192					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGTGCTGGACGTCAGTCAGG	0.662													T	143328	C	T	143328	2	4	66	1	0	0	0	0	0	0	0	1	12149	535	19	1		1	PLEKHG4B	5	143328	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		143328	180771932	16	4260											
FTMT	94033	broad.mit.edu	37	chr5	121187738	121187738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgcgctgctgcttcgCgctcccgctgcgttgggccc	0	9	14	18	6	0	0	0	0	0	0	2	0	1	0	3	2	4	6	3	2	0	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:121187738C>T	uc003kss.3	+	0	89	c.80C>T	c.(79-81)gCg>gTg	p.A27V		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	27					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TGCTGCTTCGCGCTCCCGCTG	0.741													T	121187738	C	T	121187738	3	4	66	1	0	0	0	0	1	0	0	0	6137	768	27	1	82	1	FTMT	5	121187738	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	121044410	121187738	59727522	17	4261											
PCDHAC2	56146	broad.mit.edu	37	chr5	140175903	140175903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgacgtgaacgacaacGcgccggcgttcgcacagcct	8	5	13	15	8	0	1	0	1	0	0	1	3	0	1	3	2	3	2	3	2	2	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:140175903G>A	uc003lhd.2	+	0	1460	c.1354G>A	c.(1354-1356)Gcg>Acg	p.A452T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A452T|PCDHAC2_uc011czy.2_Missense_Mutation_p.A452T	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	466	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGACAACGCGCCGGCGTT	0.647													A	140175903	G	A	140175903	3	1	66	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140175903	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	18988165	140175903	40739357	18	4262											
ADRA1B	147	broad.mit.edu	37	chr5	159344026	159344026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgagcaactccacactgccCcagctggacatcaccagggc	10	5	9	17	1	1	0	1	0	0	0	3	2	2	1	4	2	4	2	4	2	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:159344026C>T	uc003lxt.1	+	0	287	c.114C>T	c.(112-114)ccC>ccT	p.P38P		NM_000679	NP_000670	P35368	ADA1B_HUMAN	Homo sapiens adrenergic, alpha-1B-, receptor (ADRA1B), mRNA.	38					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CCACACTGCCCCAGCTGGACA	0.587													T	159344026	C	T	159344026	2	4	66	1	0	0	0	0	0	0	0	1	335	610	22	2		2	ADRA1B	5	159344026	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	19168123	159344026	21571234	19	4263											
RGS14	10636	broad.mit.edu	37	chr5	176795734	176795734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagccaccggaagagccTtgggagcacggagggtgaaa	12	4	16	9	2	1	3	1	1	0	2	1	6	1	6	3	4	3	1	3	4	2	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr5:176795734T>C	uc003mgh.3	+	8	1048	c.866T>C	c.(865-867)cTt>cCt	p.L289P	RGS14_uc003mgf.3_Missense_Mutation_p.L289P|RGS14_uc003mgg.1_Missense_Mutation_p.L136P|RGS14_uc003mgi.3_Missense_Mutation_p.L59P	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	289					chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGAAGAGCCTTGGGAGCACG	0.582											OREG0017086	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	176795734	T	C	176795734	3	2	66	1	0	0	0	0	1	0	0	0	13386	1609	56	3	900	3	RGS14	5	176795734	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	17451708	176795734	4119526	20	4264											
ZKSCAN4	387032	broad.mit.edu	37	chr6	28213024	28213024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggattttctgatgttcaAtaagacttctattccgtgtg	8	18	9	6	1	3	2	1	1	2	1	4	3	4	3	1	1	0	1	1	1	3	7			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:28213024A>G	uc003nks.1	-	4	1752	c.1508T>C	c.(1507-1509)aTt>aCt	p.I503T	ZKSCAN4_uc011dlb.1_Missense_Mutation_p.I348T	NM_019110	NP_061983	Q969J2	ZKSC4_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 4 (ZKSCAN4), mRNA.	503					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I503I(1)		endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CTGATGTTCAATAAGACTTCT	0.428													G	28213024	A	G	28213024	3	3	66	1	0	0	0	0	1	0	0	0	17790	101	4	3	133	3	ZKSCAN4	6	28213024	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08		28213024	142902043	21	4265											
SYNE1	23345	broad.mit.edu	37	chr6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgctgagttccagaCgctggagctgttccaactcc	7	11	11	12	1	1	2	1	1	0	1	4	3	4	3	3	1	3	5	3	1	1	2	rs143049227		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr6:152461140C>T	uc021zhb.1	-	137	25626	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8468			R -> H (in a colorectal cancer sample; somatic mutation).		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	p.R8468H(8)		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)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)			T	152461140	C	T	152461140	3	4	66	1	0	0	0	0	1	0	0	0	15542	536	19	1	1018	1	SYNE1	6	152461140	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	124248116	152461140	18653927	22	4266											
AHR	196	broad.mit.edu	37	chr7	17367444	17367444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttttatgcttcttctaCtatacaagattatctagggt	9	18	7	7	0	4	1	0	0	4	1	4	1	4	1	0	2	3	1	0	2	7	9			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:17367444C>A	uc011jxz.1	+	3	1035	c.422C>A	c.(421-423)aCt>aAt	p.T141N		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	141	PAS 1.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					GCTTCTTCTACTATACAAGAT	0.279													A	17367444	C	A	17367444	3	1	66	1	0	0	0	0	1	0	0	0	416	565	20	4	436	4	AHR	7	17367444	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		17367444	141771219	23	4267											
RAPGEF5	9771	broad.mit.edu	37	chr7	22165268	22165268	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggttcggacagtgtctgcGatcatatgctgtaaagtaga	11	11	13	6	2	2	1	1	0	1	1	3	3	2	2	0	2	2	4	0	2	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:22165268G>A	uc003svg.3	-	24	2344	c.2031C>T	c.(2029-2031)atC>atT	p.I677I		NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	527					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						CAGTGTCTGCGATCATATGCT	0.463													A	22165268	G	A	22165268	2	1	66	1	0	0	0	0	0	0	0	1	13135	1048	37	1		1	RAPGEF5	7	22165268	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	4797824	22165268	136973395	24	4268											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	66	1	0	0	0	0	1	0	0	0	5006	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	33045812	55211080	103927583	25	4269											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221822	C	A	55221822	3	1	66	1	0	0	0	0	1	0	0	0	5006	739	26	4	892	4	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	10742	55221822	103916841	26	4270											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	66	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	11221	55233043	103905620	27	4271											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99621816	99621816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctgagatgctcgcaaggGggatggtgcctctggatcca	8	8	15	10	1	1	1	0	1	1	1	3	5	2	3	3	4	2	2	3	4	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:99621816G>A	uc003usk.1	+	2	685	c.466G>A	c.(466-468)Ggg>Agg	p.G156R	ZKSCAN1_uc003usj.3_Missense_Mutation_p.G155R|ZKSCAN1_uc003usl.1_Missense_Mutation_p.G120R|ZKSCAN1_uc003usm.1_Intron	NM_003439	NP_003430	P17029	ZKSC1_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 1 (ZKSCAN1), mRNA.	156					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCTCGCAAGGGGGATGGTGCC	0.507													A	99621816	G	A	99621816	3	1	66	1	0	0	0	0	1	0	0	0	17787	1232	43	2	472	2	ZKSCAN1	7	99621816	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	44388773	99621816	59516847	28	4272											
DOCK4	9732	broad.mit.edu	37	chr7	111395650	111395650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgacgttctctccaccCagagactctacaaaacacaa	16	8	4	13	1	2	2	0	1	2	1	4	3	3	2	2	0	2	1	2	0	5	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:111395650C>T	uc003vfy.3	-	42	4714	c.4445G>A	c.(4444-4446)tGg>tAg	p.W1482*	DOCK4_uc011kml.2_Nonsense_Mutation_p.W318*|DOCK4_uc011kmm.2_Nonsense_Mutation_p.W344*|DOCK4_uc003vfw.3_Nonsense_Mutation_p.W887*|DOCK4_uc003vfx.3_Nonsense_Mutation_p.W1437*	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	1437	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TCTCTCCACCCAGAGACTCTA	0.453													T	111395650	C	T	111395650	4	4	66	1	0	0	0	0	0	1	0	0	4728	595	21	2	1638	2	DOCK4	7	111395650	Nonsense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	11773834	111395650	47743013	29	4273											
WNT2	7472	broad.mit.edu	37	chr7	116960624	116960624	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcaggagacttacttcGgagtaggaccctgccaaaaa	14	6	12	9	1	0	1	0	0	0	1	1	5	0	3	2	4	2	2	2	4	5	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:116960624G>A	uc003viz.3	-	1	607	c.307C>T	c.(307-309)Cga>Tga	p.R103*	WNT2_uc003vja.3_Missense_Mutation_p.P28L	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	103					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTTACTTCGGAGTAGGACC	0.547													A	116960624	G	A	116960624	4	1	66	1	0	0	0	0	0	1	0	0	17488	1124	39	1	791	1	WNT2	7	116960624	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	5564974	116960624	42178039	30	4274											
TMEM209	84928	broad.mit.edu	37	chr7	129813714	129813714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtaaaagtttttccGtcgggatacttcggatgtgg	10	13	13	5	3	0	1	0	1	0	1	3	4	1	3	1	3	1	2	1	3	4	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:129813714G>A	uc003vpn.2	-	11	1533	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D	TMEM209_uc010lmc.1_Silent_p.D428D	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	470						integral to membrane		p.G470*(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					AAGTTTTTCCGTCGGGATACT	0.363													A	129813714	G	A	129813714	2	1	66	1	0	0	0	0	0	0	0	1	16234	1136	40	1		1	TMEM209	7	129813714	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	12853090	129813714	29324949	31	4275											
RAB19	401409	broad.mit.edu	37	chr7	140107592	140107592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagacacagcagaacaCgattggagtggactttaccg	13	7	11	10	2	0	2	0	1	0	2	0	6	0	4	1	2	3	1	1	2	2	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr7:140107592C>T	uc010lni.2	+	1	344	c.146C>T	c.(145-147)aCg>aTg	p.T49M	RAB19_uc011krc.1_Missense_Mutation_p.T49M	NM_001008749	NP_001008749	A4D1S5	RAB19_HUMAN	Homo sapiens RAB19, member RAS oncogene family (RAB19), mRNA.	49					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CAGCAGAACACGATTGGAGTG	0.468													T	140107592	C	T	140107592	3	4	66	1	0	0	0	0	1	0	0	0	12992	536	19	1	148	1	RAB19	7	140107592	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	10293878	140107592	19031071	32	4276											
DLGAP2	9228	broad.mit.edu	37	chr8	1496906	1496906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagccgccgctgtgttccgGgcacacgtgtggtctggcgc	3	8	15	15	5	1	0	0	0	1	0	2	0	2	0	4	3	1	3	4	3	0	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:1496906G>A	uc003wpl.3	+	1	144	c.47G>A	c.(46-48)gGg>gAg	p.G16E	DLGAP2_uc003wpm.3_Missense_Mutation_p.G16E	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	95					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CTGTGTTCCGGGCACACGTGT	0.721													A	1496906	G	A	1496906	3	1	66	1	0	0	0	0	1	0	0	0	4599	1232	43	2	49	2	DLGAP2	8	1496906	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		1496906	144867116	33	4277											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24254921	24254921	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgtgaagagcactgaCgggaaacaaggcccaattcg	12	7	14	8	2	0	3	0	2	0	1	1	4	0	4	1	3	2	1	1	3	4	1	rs141288918		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:24254921C>T	uc003xdz.2	+	5	799	c.579C>T	c.(577-579)gaC>gaT	p.D193D	ADAMDEC1_uc010lub.2_Silent_p.D114D|ADAMDEC1_uc011lab.1_Silent_p.D114D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	193					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGAGCACTGACGGGAAACAAG	0.443													T	24254921	C	T	24254921	2	4	66	1	0	0	0	0	0	0	0	1	254	535	19	1		1	ADAMDEC1	8	24254921	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	22758015	24254921	122109101	34	4278											
SDCBP	6386	broad.mit.edu	37	chr8	59492353	59492353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgtcattggattgaaGgtaaggaacagactttgtgc	13	11	12	5	0	1	3	1	1	0	2	1	5	1	5	0	3	2	1	0	3	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr8:59492353G>A	uc003xtn.3	+	7	900	c.750_splice	c.e7+1	p.K250_splice	SDCBP_uc003xto.3_Splice_Site_p.K249_splice|SDCBP_uc003xtr.3_Splice_Site_p.K249_splice|SDCBP_uc003xtq.3_Splice_Site_p.K250_splice|SDCBP_uc003xtp.3_Splice_Site_p.K244_splice|SDCBP_uc003xts.3_Splice_Site_p.K256_splice|SDCBP_uc011led.2_Splice_Site_p.K191_splice	NM_005625	NP_005616	O00560	SDCB1_HUMAN	Homo sapiens syndecan binding protein (syntenin) (SDCBP), transcript variant 1, mRNA.	250	PDZ 2.				actin cytoskeleton organization|axon guidance|positive regulation of phosphorylation|protein targeting to membrane|substrate-dependent cell migration, cell extension|synaptic transmission	cytoskeleton|cytosol|endoplasmic reticulum membrane|focal adhesion|interleukin-5 receptor complex|melanosome|nucleus	cytoskeletal adaptor activity|frizzled binding|interleukin-5 receptor binding|protein heterodimerization activity|protein N-terminus binding|syndecan binding			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	8		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTGGATTGAAGGTAAGGAACA	0.398													A	59492353	G	A	59492353	2	1	66	1	0	0	0	0	0	0	0	1	14048	1014	35	2		2	SDCBP	8	59492353	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	35237432	59492353	86871669	35	4279											
DOCK8	81704	broad.mit.edu	37	chr9	396909	396909	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtcacctcggaaattgCagcccttttagtaaaaccac	11	11	8	11	1	1	0	1	0	0	0	2	1	1	1	3	2	3	2	3	2	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:396909C>G	uc003zgf.2	+	24	3207	c.3095C>G	c.(3094-3096)gCa>gGa	p.A1032G	DOCK8_uc022bcu.1_Missense_Mutation_p.A964G|DOCK8_uc010mgv.3_Missense_Mutation_p.A932G|DOCK8_uc010mgu.3_Missense_Mutation_p.A334G|DOCK8_uc010mgw.2_Missense_Mutation_p.A334G|DOCK8_uc003zgk.2_Missense_Mutation_p.A490G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1032					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCGGAAATTGCAGCCCTTTTA	0.348													G	396909	C	G	396909	3	3	66	1	0	0	0	0	1	0	0	0	4732	710	25	4	3193	4	DOCK8	9	396909	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		396909	140816522	36	4280											
DOCK8	81704	broad.mit.edu	37	chr9	399200	399200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttcttcttgtatgacCttctctccctcatggatcgg	4	17	8	12	1	4	1	1	1	3	0	7	2	5	2	2	3	0	2	2	3	1	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:399200C>G	uc003zgf.2	+	25	3287	c.3175C>G	c.(3175-3177)Ctt>Gtt	p.L1059V	DOCK8_uc022bcu.1_Missense_Mutation_p.L991V|DOCK8_uc010mgv.3_Missense_Mutation_p.L959V|DOCK8_uc010mgu.3_Missense_Mutation_p.L361V|DOCK8_uc010mgw.2_Missense_Mutation_p.L361V|DOCK8_uc003zgk.2_Missense_Mutation_p.L517V	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1059					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CTTGTATGACCTTCTCTCCCT	0.493													G	399200	C	G	399200	3	3	66	1	0	0	0	0	1	0	0	0	4732	681	24	4	3277	4	DOCK8	9	399200	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	2291	399200	140814231	37	4281											
DOCK8	81704	broad.mit.edu	37	chr9	439373	439373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcctggagcaggccgcGgagctcttcagcacggtcag	6	6	15	14	3	3	0	2	0	1	0	4	2	4	2	3	5	3	3	3	5	0	1	rs144172375		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:439373G>A	uc003zgf.2	+	39	5320	c.5208G>A	c.(5206-5208)gcG>gcA	p.A1736A	DOCK8_uc022bcu.1_Silent_p.A1668A|DOCK8_uc010mgv.3_Silent_p.A1636A|DOCK8_uc010mgu.3_Silent_p.A1038A|DOCK8_uc003zgk.2_Silent_p.A1194A	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1736	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGCAGGCCGCGGAGCTCTTCA	0.647													A	439373	G	A	439373	2	1	66	1	0	0	0	0	0	0	0	1	4732	1103	39	1		1	DOCK8	9	439373	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	40173	439373	140774058	38	4282											
OR2K2	26248	broad.mit.edu	37	chr9	114090506	114090506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagatgtgtaacaaatatCcatgaaagagagatttccaa	17	9	9	6	0	0	4	0	1	0	3	2	5	2	4	2	1	1	2	2	1	5	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:114090506C>T	uc011lwp.2	-	0	208	c.208G>A	c.(208-210)Gat>Aat	p.D70N		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						TAACAAATATCCATGAAAGAG	0.418													T	114090506	C	T	114090506	3	4	66	1	0	0	0	0	1	0	0	0	11081	855	30	2	745	2	OR2K2	9	114090506	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	113651133	114090506	27122925	39	4283											
COL27A1	85301	broad.mit.edu	37	chr9	117020836	117020836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagggtcctccaggatctCgaggcccaccaggcatgagg	8	5	13	15	1	1	1	0	1	1	0	4	3	3	2	5	5	0	1	5	5	0	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:117020836C>T	uc011lxl.2	+	27	3157	c.3157C>T	c.(3157-3159)Cga>Tga	p.R1053*	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1053	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.R1053*(2)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TCCAGGATCTCGAGGCCCACC	0.622													T	117020836	C	T	117020836	4	4	66	1	0	0	0	0	0	1	0	0	3716	876	31	1	3267	1	COL27A1	9	117020836	Nonsense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	2930330	117020836	24192595	40	4284											
C9orf171	389799	broad.mit.edu	37	chr9	135374759	135374759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtctctccctgccctcagCcatcggacgctggaacgtgt	5	9	12	15	3	2	0	1	0	1	0	5	2	3	2	3	3	3	1	3	3	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr9:135374759C>T	uc004cbn.3	+	4	452	c.404_splice	c.e4-1	p.A135_splice	C9orf171_uc004cbo.3_Splice_Site_p.A99_splice	NM_207417	NP_997300	Q6ZQR2	CI171_HUMAN	Homo sapiens chromosome 9 open reading frame 171 (C9orf171), mRNA.	135										large_intestine(7)|lung(9)|ovary(4)|prostate(3)	23						CTGCCCTCAGCCATCGGACGC	0.647													T	135374759	C	T	135374759	3	4	66	1	0	0	0	0	1	0	0	0	2496	753	26	2	418	2	C9orf171	9	135374759	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	18353923	135374759	5838672	41	4285											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508365	37508365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgttgatgtgagtagtaCgatatataacaatgaggtgc	14	12	12	3	1	0	3	0	3	0	0	0	5	0	3	0	1	3	3	0	1	7	6	rs116869285	by1000genomes	TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:37508365C>T	uc021ppc.1	+	33	3656	c.3557C>T	c.(3556-3558)aCg>aTg	p.T1186M	ANKRD30A_uc001iza.1_Missense_Mutation_p.T1186M	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1242						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GTGAGTAGTACGATATATAAC	0.363													T	37508365	C	T	37508365	3	4	66	1	0	0	0	0	1	0	0	0	658	536	19	1	3691	1	ANKRD30A	10	37508365	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		37508365	98026382	42	4286											
CHAT	1103	broad.mit.edu	37	chr10	50873009	50873009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgacatgagagacctcTgcagtctgctgccgcctact	8	11	9	13	1	3	3	1	2	2	1	3	4	3	3	3	0	4	2	3	0	1	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:50873009T>C	uc001jhz.2	+	14	2317	c.2164T>C	c.(2164-2166)Tgc>Cgc	p.C722R	CHAT_uc001jhv.1_Missense_Mutation_p.C604R|CHAT_uc001jhx.1_Missense_Mutation_p.C604R|CHAT_uc001jhy.1_Missense_Mutation_p.C604R|CHAT_uc001jia.2_Missense_Mutation_p.C640R|CHAT_uc010qgs.1_Intron	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	722					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GAGAGACCTCTGCAGTCTGCT	0.502													C	50873009	T	C	50873009	3	2	66	1	0	0	0	0	1	0	0	0	3343	1580	55	3	2266	3	CHAT	10	50873009	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	13364644	50873009	84661738	43	4287											
DLG5	9231	broad.mit.edu	37	chr10	79577582	79577582	+	Frame_Shift_Del	DEL	A	A	-																															tggacccatgggtggctctcAtctcggagtagtcgctgcag																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:79577582delA	uc001jzk.3	-	17	3807	c.3737delT	c.(3736-3738)atgfs	p.M1246fs	DLG5_uc001jzi.3_Frame_Shift_Del_p.M1fs|DLG5_uc001jzj.3_Frame_Shift_Del_p.M661fs|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Frame_Shift_Del_p.M850fs	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1246					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GGTGGCTCTCATCTCGGAGTA	0.597													-	79577582	A	-	79577582	7	5	66	1	0	1	0	1	0	0	0	0	4597	217	8	0	2082	0	DLG5	10	79577582	Frame_Shift_Del	DEL	A	TCGA-06-0876-01A-01W-0424-08	28704573	79577582	55957165	44	4288											
PTEN	5728	broad.mit.edu	37	chr10	89653838	89653838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaagacttgaaggcgtaTacaggaacaatattgatgat	17	9	10	5	1	0	5	0	3	0	2	0	6	0	6	0	2	2	1	0	2	7	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr10:89653838T>C	uc001kfb.3	+	1	1168	c.136T>C	c.(136-138)Tac>Cac	p.Y46H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	46	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.V45V(2)|p.V45fs*10(1)|p.Y46C(1)|p.Y46*(1)|p.G44fs*8(1)|p.Y46H(1)|p.G44fs*11(1)|p.V45fs*9(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGAAGGCGTATACAGGAACAA	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89653838	T	C	89653838	3	2	66	1	0	0	0	0	1	0	0	0	12823	1406	49	3	142	3	PTEN	10	89653838	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	10076256	89653838	45880909	45	4289											
OR4X2	119764	broad.mit.edu	37	chr11	48266856	48266856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagatctgctactcctcCgctacagcccccaaactcat	10	9	6	16	1	2	1	1	0	1	1	4	2	4	1	4	1	5	2	4	1	3	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:48266856C>T	uc001ngs.1	+	0	201	c.201C>T	c.(199-201)tcC>tcT	p.S67S		NM_001004727	NP_001004727	Q8NGF9	OR4X2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 2 (OR4X2), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						GCTACTCCTCCGCTACAGCCC	0.502													T	48266856	C	T	48266856	2	4	66	1	0	0	0	0	0	0	0	1	11161	639	23	1		1	OR4X2	11	48266856	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08		48266856	86739660	46	4290											
CTSW	1521	broad.mit.edu	37	chr11	65647754	65647754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggagttacctgagcccaGaaggtatcacagggcacata	13	6	11	11	1	1	2	1	1	0	1	1	3	1	3	3	3	2	3	3	3	4	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr11:65647754G>A	uc001ogc.1	+	1	211	c.169G>A	c.(169-171)Gaa>Aaa	p.E57K		NM_001335	NP_001326	P56202	CATW_HUMAN	Homo sapiens cathepsin W (CTSW), mRNA.	57					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCTGAGCccagaaggtatcac	0.517													A	65647754	G	A	65647754	3	1	66	1	0	0	0	0	1	0	0	0	4075	943	33	2	175	2	CTSW	11	65647754	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	17380898	65647754	69358762	47	4291											
ATN1	1822	broad.mit.edu	37	chr12	7046515	7046516	+	Frame_Shift_Ins	INS	-	-	C																															cgcccaccgtgggacctgggINScccctgccacctgcggggcc																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:7046515_7046516insC	uc001qrw.1	+	4	2322_2323	c.2085_2086insC	c.(2083-2088)gggcccfs	p.G695fs	ATN1_uc001qrx.1_Frame_Shift_Ins_p.G695fs	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	695					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGGGACCTGGGCCCCTGCCACC	0.723													C	7046516	-	C	7046515	7	5	66	1	0	1	1	0	0	0	0	0	1116	1190	42	0	2099	0	ATN1	12	7046515	Frame_Shift_Ins	INS	-	TCGA-06-0876-01A-01W-0424-08		7046515	126805380	48	4292											
OR6C70	390327	broad.mit.edu	37	chr12	55863703	55863703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggaatctgggaatgcaagCagttgtgaatgaaatttcca	14	11	11	5	0	1	2	0	2	1	0	2	4	2	4	1	2	2	3	1	2	6	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:55863703C>A	uc010spn.2	-	0	220	c.220G>T	c.(220-222)Gct>Tct	p.A74S		NM_001005499	NP_001005499	A6NIJ9	O6C70_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 70 (OR6C70), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	18						GGAATGCAAGCAGTTGTGAAT	0.398													A	55863703	C	A	55863703	3	1	66	1	0	0	0	0	1	0	0	0	11273	710	25	4	720	4	OR6C70	12	55863703	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	48817188	55863703	77988192	49	4293											
IFNG	3458	broad.mit.edu	37	chr12	68551725	68551725	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttcgaagtcatctcGtttctttttgttgctattga	6	20	7	8	2	3	1	1	1	2	0	5	2	3	1	0	0	2	4	0	0	2	8			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:68551725G>A	uc001stw.1	-	2	460	c.334C>T	c.(334-336)Cga>Tga	p.R112*		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	112					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AAGTCATCTCGTTTCTTTTTG	0.358													A	68551725	G	A	68551725	4	1	66	1	0	0	0	0	0	1	0	0	7606	1153	40	1	174	1	IFNG	12	68551725	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	12688022	68551725	65300170	50	4294											
PXN	5829	broad.mit.edu	37	chr12	120651689	120651689	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcgtgttgagggctgAgatatagttctccaggatgg	9	10	14	8	1	1	2	0	2	1	1	2	4	1	3	2	3	1	3	2	3	2	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr12:120651689A>C	uc001txv.3	-	9	1649	c.1507T>G	c.(1507-1509)Tca>Gca	p.S503A	PXN_uc001txu.3_Missense_Mutation_p.S301A|PXN_uc001txx.3_Missense_Mutation_p.S322A|PXN_uc001txt.3_Missense_Mutation_p.S489A|PXN_uc001txy.3_Missense_Mutation_p.S455A|PXN_uc001txz.3_Non-coding_Transcript	NM_001243756	NP_001230685	P49023	PAXI_HUMAN	Homo sapiens paxillin (PXN), transcript variant 3, mRNA.	489	LIM zinc-binding 3.				cell junction assembly|cell-matrix adhesion|cellular response to reactive oxygen species|epidermal growth factor receptor signaling pathway|growth hormone receptor signaling pathway|muscle contraction|signal complex assembly	cytoplasm|focal adhesion|lamellipodium|microtubule associated complex	beta-catenin binding|vinculin binding|zinc ion binding	p.S502Y(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTGAGGGCTGAGATATAGTTC	0.617													C	120651689	A	C	120651689	3	2	66	1	0	0	0	0	1	0	0	0	12940	304	11	5	318	5	PXN	12	120651689	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08	52099964	120651689	13200206	51	4295											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017656	33017656	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacattctgattccatgttGatggcacagaatgggttcat	10	14	10	7	0	2	4	1	3	1	1	3	4	3	4	1	2	0	3	1	2	1	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:33017656G>A	uc010abe.1	-	6	1040	c.1018C>T	c.(1018-1020)Caa>Taa	p.Q340*	N4BP2L2_uc001uug.2_Nonsense_Mutation_p.Q223*|N4BP2L2_uc010abd.1_Nonsense_Mutation_p.Q253*|N4BP2L2_uc001uuh.2_Nonsense_Mutation_p.Q171*|N4BP2L2_uc001uuj.2_Intron|N4BP2L2_uc010tdz.1_Nonsense_Mutation_p.Q325*|N4BP2L2_uc021rhy.1_5'Flank	NM_033111	NP_149102	Q92802	N42L2_HUMAN	Homo sapiens NEDD4 binding protein 2-like 2 (N4BP2L2), transcript variant 1, mRNA.	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATTCCATGTTGATGGCACAGA	0.353													A	33017656	G	A	33017656	4	1	66	1	0	0	0	0	0	1	0	0	10188	1299	45	2	1252	2	N4BP2L2	13	33017656	Nonsense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		33017656	82152222	52	4296											
COL4A1	1282	broad.mit.edu	37	chr13	110817226	110817226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttgctggcctttcgggCctggcagtccctgaagccct	4	10	11	16	1	0	1	0	1	0	0	2	1	1	1	5	3	2	2	5	3	1	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr13:110817226C>T	uc001vqw.4	-	45	4255	c.4133G>A	c.(4132-4134)gGc>gAc	p.G1378D		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1378	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCTTTCGGGCCTGGCAGTCC	0.642													T	110817226	C	T	110817226	3	4	66	1	0	0	0	0	1	0	0	0	3720	739	26	2	904	2	COL4A1	13	110817226	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	77799570	110817226	4352652	53	4297											
ANKDD1A	348094	broad.mit.edu	37	chr15	65209682	65209682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggacgaggaggatgCggtaggggccctcacagagg	8	6	19	8	2	1	1	1	0	0	1	1	5	1	4	1	7	2	2	1	7	1	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:65209682C>T	uc002aoa.3	+	2	265	c.236C>T	c.(235-237)gCg>gTg	p.A79V	ANKDD1A_uc002anx.1_Missense_Mutation_p.A79V|ANKDD1A_uc002any.3_5'UTR|ANKDD1A_uc002anz.3_Intron|ANKDD1A_uc002aob.3_Missense_Mutation_p.A49V	NM_182703	NP_874362	Q495B1	AKD1A_HUMAN	Homo sapiens ankyrin repeat and death domain containing 1A (ANKDD1A), mRNA.	79					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						GAGGAGGATGCGGTAGGGGCC	0.642													T	65209682	C	T	65209682	3	4	66	1	0	0	0	0	1	0	0	0	624	768	27	1	246	1	ANKDD1A	15	65209682	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		65209682	37321710	54	4298											
MAN2A2	4122	broad.mit.edu	37	chr15	91454400	91454400	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccggctcactgaattccaGgatgacactcgcttaagtca	10	11	8	12	2	2	2	2	2	0	0	5	3	4	3	2	2	0	2	2	2	2	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr15:91454400G>A	uc010bnz.2	+	13	1991	c.1876_splice	c.e13-1	p.D626_splice	MAN2A2_uc010boa.3_Splice_Site_p.D668_splice|MAN2A2_uc002bqc.3_Splice_Site_p.D626_splice|MAN2A2_uc010uql.2_Splice_Site_p.D288_splice|MAN2A2_uc010uqm.2_Splice_Site_p.D205_splice|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	626					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CTGAATTCCAGGATGACACTC	0.612													A	91454400	G	A	91454400	5	1	66	1	0	0	0	0	0	0	1	0	9290	1014	35	2	1921	2	MAN2A2	15	91454400	Splice_Site	SNP	G	TCGA-06-0876-01A-01W-0424-08	26244718	91454400	11076992	55	4299											
CLDN9	9080	broad.mit.edu	37	chr16	3063836	3063836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgaggccctcaagcGggagctgggggcctccctct	4	7	17	13	1	2	1	1	1	1	0	3	2	3	2	3	6	2	2	3	6	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:3063836G>A	uc010uwo.1	+	0	1380	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_020982	NP_066192	O95484	CLD9_HUMAN	Homo sapiens claudin 9 (CLDN9), mRNA.	158					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(5)|prostate(2)	10						GCCCTCAAGCGGGAGCTGGGG	0.701													A	3063836	G	A	3063836	3	1	66	1	0	0	0	0	1	0	0	0	3523	1116	39	1	475	1	CLDN9	16	3063836	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		3063836	87290917	56	4300											
FAM86A	196483	broad.mit.edu	37	chr16	5135684	5135684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgctcttcgtagggaaaCagtttctgctcatgacgagg	10	11	12	8	2	3	1	1	1	2	0	4	3	3	2	0	2	3	4	0	2	3	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:5135684C>T	uc002cyo.2	-	7	991	c.942G>A	c.(940-942)ctG>ctA	p.L314L	ALG1_uc002cyj.3_3'UTR|ALG1_uc002cym.3_3'UTR|ALG1_uc010bue.3_3'UTR|FAM86A_uc002cyp.2_Silent_p.L280L	NM_201400	NP_958802	Q96G04	FA86A_HUMAN	Homo sapiens family with sequence similarity 86, member A (FAM86A), transcript variant 1, mRNA.	314										endometrium(1)|large_intestine(2)|lung(4)|prostate(3)|skin(2)	12						CGTAGGGAAACAGTTTCTGCT	0.527													T	5135684	C	T	5135684	2	4	66	1	0	0	0	0	0	0	0	1	5693	465	17	2		2	FAM86A	16	5135684	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	2071848	5135684	85219069	57	4301											
FA2H	79152	broad.mit.edu	37	chr16	74748141	74748141	+	Frame_Shift_Del	DEL	C	C	-																															gagggtgtggaaacagtaatCccacaatttagtgctgatac																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr16:74748141delC	uc002fde.2	-	6	1142	c.1066delG	c.(1066-1068)gatfs	p.D356fs	FA2H_uc002fdd.2_Frame_Shift_Del_p.D129fs|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	356				D -> G (in Ref. 1; BAB71632).	cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						AAACAGTAATCCCACAATTTA	0.582													-	74748141	C	-	74748141	7	5	66	1	0	1	0	1	0	0	0	0	5397	855	30	0	56	0	FA2H	16	74748141	Frame_Shift_Del	DEL	C	TCGA-06-0876-01A-01W-0424-08	69612457	74748141	15606612	58	4302											
AIPL1	23746	broad.mit.edu	37	chr17	6338338	6338338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccactcactcgggatccGgtgatgaagtttgggagctc	7	9	13	12	2	1	2	1	2	0	0	4	4	2	4	3	3	1	2	3	3	1	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:6338338G>A	uc002gcp.3	-	0	182	c.87C>T	c.(85-87)acC>acT	p.T29T	AIPL1_uc021toq.1_5'UTR|AIPL1_uc002gcq.3_Silent_p.T29T|AIPL1_uc002gcr.3_Silent_p.T29T|AIPL1_uc010clk.3_Silent_p.T29T|AIPL1_uc010cll.3_Silent_p.T29T|AIPL1_uc021tor.1_Silent_p.T29T|AIPL1_uc002gcs.3_Silent_p.T29T	NM_014336	NP_055151	Q9NZN9	AIPL1_HUMAN	Homo sapiens aryl hydrocarbon receptor interacting protein-like 1 (AIPL1), transcript variant 1, mRNA.	29					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CTCGGGATCCGGTGATGAAGT	0.597													A	6338338	G	A	6338338	2	1	66	1	0	0	0	0	0	0	0	1	436	1103	39	1		1	AIPL1	17	6338338	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08		6338338	74856872	59	4303											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	66	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	1239201	7577539	73617671	60	4304											
C18orf26	284254	broad.mit.edu	37	chr18	52265157	52265157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataatatgcttggtgaataaCaaaggatcggccaattcctc	14	11	8	8	1	0	1	0	1	0	0	3	2	1	2	2	3	2	1	2	3	6	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:52265157C>A	uc002lfq.1	+	2	460	c.414C>A	c.(412-414)aaC>aaA	p.N138K		NM_173629	NP_775900	Q8N1N2	CR026_HUMAN	Homo sapiens chromosome 18 open reading frame 26 (C18orf26), mRNA.	138						integral to membrane				endometrium(4)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	11				Colorectal(16;0.0193)|READ - Rectum adenocarcinoma(59;0.178)		TGGTGAATAACAAAGGATCGG	0.453													A	52265157	C	A	52265157	3	1	66	1	0	0	0	0	1	0	0	0	1918	477	17	4	424	4	C18orf26	18	52265157	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		52265157	25812091	61	4305											
SERPINB12	89777	broad.mit.edu	37	chr18	61223463	61223463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataggcaaagatgatcGtcataaaaacatatttttct	17	12	7	5	1	2	3	1	1	1	2	3	4	2	3	0	1	1	1	0	1	6	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr18:61223463G>A	uc010xeo.2	+	0	71	c.71G>A	c.(70-72)cGt>cAt	p.R24H	SERPINB12_uc010xen.2_Missense_Mutation_p.R24H	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	24					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAAGATGATCGTCATAAAAAC	0.393													A	61223463	G	A	61223463	3	1	66	1	0	0	0	0	1	0	0	0	14192	1145	40	1	73	1	SERPINB12	18	61223463	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	8958306	61223463	16853785	62	4306											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661023	8661023	+	Missense_Mutation	SNP	A	A	G																															atgggttggtcttcatggtaAtgtgggcagccatgagcttg																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661023A>G	uc002mkj.1	-	10	1545	c.1271T>C	c.(1270-1272)aTt>aCt	p.I424T	ADAMTS10_uc002mkk.1_Missense_Mutation_p.I56T	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	424	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTTCATGGTAATGTGGGCAGC	0.592													G	8661023	A	G	8661023	3	3	66	1	0	0	0	0	1	0	0	0	256	101	4	3	2104	3	ADAMTS10	19	8661023	Missense_Mutation	SNP	A	TCGA-06-0876-01A-01W-0424-08		8661023	50467960	63	4307	5	2									
ADAMTS10	81794	broad.mit.edu	37	chr19	8661031	8661031	+	Silent	SNP	A	A	G																															gtcttcatggtaatgtgggcAgccatgagcttggctgggtc																										TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:8661031A>G	uc002mkj.1	-	10	1537	c.1263T>C	c.(1261-1263)gcT>gcC	p.A421A	ADAMTS10_uc002mkk.1_Silent_p.A53A	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	421	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TAATGTGGGCAGCCATGAGCT	0.592													G	8661031	A	G	8661031	2	3	66	1	0	0	0	0	0	0	0	1	256	175	7	3		3	ADAMTS10	19	8661031	Silent	SNP	A	TCGA-06-0876-01A-01W-0424-08	8	8661031	50467952	64	4308	5	2									
KLF1	10661	broad.mit.edu	37	chr19	12996209	12996209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgggtgcgcgcacgtgtGcgctgcctgcctcttgcgcg	2	8	15	16	7	1	0	0	0	1	0	1	0	1	0	3	1	5	2	3	1	0	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:12996209G>A	uc002mvo.3	-	1	898	c.835C>T	c.(835-837)Cac>Tac	p.H279Y		NM_006563	NP_006554	Q13351	KLF1_HUMAN	Homo sapiens Kruppel-like factor 1 (erythroid) (KLF1), mRNA.	279					erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGCACGTGTGCGCTGCCTGC	0.692													A	12996209	G	A	12996209	3	1	66	1	0	0	0	0	1	0	0	0	8395	1319	46	2	261	2	KLF1	19	12996209	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	4335178	12996209	46132774	65	4309											
ZNF208	7757	broad.mit.edu	37	chr19	22155610	22155610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctctccagtatgAattaccttatgtttagtaag	10	17	8	6	0	1	1	0	1	1	0	3	1	2	1	2	1	1	4	2	1	7	8			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:22155610A>G	uc021urr.1	-	3	2375	c.2226T>C	c.(2224-2226)atT>atC	p.I742I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CTCCAGTATGAATTACCTTAT	0.363													G	22155610	A	G	22155610	2	3	66	1	0	0	0	0	0	0	0	1	17867	242	9	3		3	ZNF208	19	22155610	Silent	SNP	A	TCGA-06-0876-01A-01W-0424-08	9159401	22155610	36973373	66	4310											
RAB4B	53916	broad.mit.edu	37	chr19	41289974	41289974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcctcccgctttgcccagGagaatggtgagggctgtgtc	6	9	15	11	1	0	2	0	1	0	1	2	3	1	2	3	4	1	2	3	4	1	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:41289974G>A	uc002opd.2	+	4	581	c.424G>A	c.(424-426)Gag>Aag	p.E142K	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Intron|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.E168K	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	142					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CTTTGCCCAGGAGAATGGTGA	0.627													A	41289974	G	A	41289974	3	1	66	1	0	0	0	0	1	0	0	0	13035	1175	41	2	442	2	RAB4B	19	41289974	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	19134364	41289974	17839009	67	4311											
SIGLEC9	27180	broad.mit.edu	37	chr19	51629378	51629378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgtcttccaaggagaCggcacaggtaggatggagct	11	8	14	8	1	1	2	0	1	1	1	2	5	2	4	1	5	1	3	1	5	2	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51629378C>T	uc010yct.2	+	2	836	c.741C>T	c.(739-741)gaC>gaT	p.D247D	SIGLEC9_uc002pvu.3_Silent_p.D247D	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	247	Ig-like C2-type 2.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TCCAAGGAGACGGCACAGGTA	0.597													T	51629378	C	T	51629378	2	4	66	1	0	0	0	0	0	0	0	1	14409	535	19	1		1	SIGLEC9	19	51629378	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	10339404	51629378	7499605	68	4312											
CD33	945	broad.mit.edu	37	chr19	51728757	51728757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccctgagcatcgtagaCgccaggaggagggataatgg	10	7	15	9	2	0	2	0	1	0	1	2	5	1	5	2	4	2	3	2	4	2	2	rs141721735		TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:51728757C>T	uc002pwa.2	+	1	361	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CD33_uc010eos.1_Silent_p.D107D|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	107	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GCATCGTAGACGCCAGGAGGA	0.507													T	51728757	C	T	51728757	2	4	66	1	0	0	0	0	0	0	0	1	3035	535	19	1		1	CD33	19	51728757	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	99379	51728757	7400226	69	4313											
ZNF841	284371	broad.mit.edu	37	chr19	52568811	52568811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgaggcctgagcgataaCggaagaccttgccacattca	11	7	12	11	3	1	2	1	1	0	1	1	5	1	3	3	2	4	0	3	2	2	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr19:52568811C>T	uc010ydh.1	-	6	2784	c.2324G>A	c.(2323-2325)cGt>cAt	p.R775H	ZNF841_uc002pyl.1_Missense_Mutation_p.R659H	NM_001136499	NP_001129971	Q6ZN19	ZN841_HUMAN	Homo sapiens zinc finger protein 841 (ZNF841), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R775C(1)		breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TGAGCGATAACGGAAGACCTT	0.438													T	52568811	C	T	52568811	3	4	66	1	0	0	0	0	1	0	0	0	18288	536	19	1	454	1	ZNF841	19	52568811	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	840054	52568811	6560172	70	4314											
LPIN3	64900	broad.mit.edu	37	chr20	39977494	39977494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggcgctgagagtgagctatCcctgccggaaaagctgaggc	10	6	15	10	2	0	3	0	3	0	1	1	5	1	4	2	3	3	3	2	3	3	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:39977494C>T	uc010ggh.3	+	3	615	c.524C>T	c.(523-525)tCc>tTc	p.S175F	LPIN3_uc002xjx.3_Missense_Mutation_p.S175F|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	175					fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				AGTGAGCTATCCCTGCCGGAA	0.567													T	39977494	C	T	39977494	3	4	66	1	0	0	0	0	1	0	0	0	8990	855	30	2	534	2	LPIN3	20	39977494	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08		39977494	23048026	71	4315											
SEMG2	6406	broad.mit.edu	37	chr20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaaagatgtatcccaaCgcagtatttatagccaaact	15	10	7	9	1	0	2	0	0	0	2	1	2	1	2	2	0	4	4	2	0	7	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:43837052C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													T	43837052	C	T	43837052	3	4	66	1	0	0	0	0	1	0	0	0	14138	536	19	1		1	SEMG2	20	43837052	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	3859558	43837052	19188468	72	4316											
ARFGEF2	10564	broad.mit.edu	37	chr20	47605879	47605879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagagatggagcaaatggCtaaaacagccaaagctctga	16	7	10	8	0	1	2	0	1	1	1	1	4	1	3	1	2	4	3	1	2	5	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47605879C>A	uc002xtx.4	+	18	2743	c.2591C>A	c.(2590-2592)gCt>gAt	p.A864D	ARFGEF2_uc010zyf.2_Missense_Mutation_p.A157D	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	864					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GAGCAAATGGCTAAAACAGCC	0.507													A	47605879	C	A	47605879	3	1	66	1	0	0	0	0	1	0	0	0	856	797	28	4	2665	4	ARFGEF2	20	47605879	Missense_Mutation	SNP	C	TCGA-06-0876-01A-01W-0424-08	3768827	47605879	15419641	73	4317											
ZNFX1	57169	broad.mit.edu	37	chr20	47865786	47865786	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagcagagccggagcaTggggcctatttgattgttct	7	11	14	9	1	1	2	0	1	1	1	1	3	1	3	2	4	3	4	2	4	1	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr20:47865786T>G	uc002xui.3	-	13	4022	c.3775A>C	c.(3775-3777)Atg>Ctg	p.M1259L		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	1259			M -> I (in dbSNP:rs6512577).				metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCCGGAGCATGGGGCCTATT	0.527													G	47865786	T	G	47865786	3	3	66	1	0	0	0	0	1	0	0	0	18304	1464	51	5	1985	5	ZNFX1	20	47865786	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	259907	47865786	15159734	74	4318											
MX2	4600	broad.mit.edu	37	chr21	42771150	42771150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgtttaatcaggacatcGaaaagttagtagaaggagaa	18	9	11	3	1	1	3	1	0	0	3	2	6	1	4	0	2	0	3	0	2	7	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:42771150G>A	uc002yzf.1	+	9	1404	c.1300G>A	c.(1300-1302)Gaa>Aaa	p.E434K	MX2_uc002yzg.1_Missense_Mutation_p.E157K|MX2_uc010gop.1_Intron	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	434					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCAGGACATCGAAAAGTTAGT	0.373													A	42771150	G	A	42771150	3	1	66	1	0	0	0	0	1	0	0	0	10074	1059	37	1	1334	1	MX2	21	42771150	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		42771150	5358745	75	4319											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032419	46032419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcaagcccgtgtgctgCgtgtccatctgctctggagc	4	11	13	13	2	2	0	0	0	2	0	3	1	3	1	2	1	7	4	2	1	1	0			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr21:46032419C>T	uc002zfo.1	+	0	424	c.402C>T	c.(400-402)tgC>tgT	p.C134C	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	134	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CCGTGTGCTGCGTGTCCATCT	0.627													T	46032419	C	T	46032419	2	4	66	1	0	0	0	0	0	0	0	1	8573	776	27	1		1	KRTAP10-8	21	46032419	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	3261269	46032419	2097476	76	4320											
PI4KA	5297	broad.mit.edu	37	chr22	21174060	21174060	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccttcaagctcttccaGgacacggagggaatgaggag	13	6	12	10	1	2	1	1	1	1	0	3	5	3	5	2	4	2	1	2	4	3	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chr22:21174060G>C	uc002zsz.4	-	5	745	c.484C>G	c.(484-486)Ctg>Gtg	p.L162V	PI4KA_uc010gsq.2_Missense_Mutation_p.L248V	NM_058004	NP_477352	P42356	PI4KA_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, alpha (PI4KA), transcript variant 1, mRNA.	162					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGCTCTTCCAGGACACGGAGG	0.522													C	21174060	G	C	21174060	3	2	66	1	0	0	0	0	1	0	0	0	11950	991	35	4	5850	4	PI4KA	22	21174060	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08		21174060	30130506	77	4321											
ARSF	416	broad.mit.edu	37	chrX	3021960	3021960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaggaagtctccctcaGgacaggtgatgtcatataaa	13	9	11	8	0	4	1	3	1	1	0	5	4	4	4	1	4	0	0	1	4	4	2			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:3021960G>A	uc022brz.1	+	8	1396	c.1260G>A	c.(1258-1260)caG>caA	p.Q420Q	ARSF_uc004cre.2_Silent_p.Q420Q|ARSF_uc004crf.2_Silent_p.Q420Q	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	420						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCTCCCTCAGGACAGGTGAT	0.448													A	3021960	G	A	3021960	2	1	66	1	0	0	0	0	0	0	0	1	996	991	35	2		2	ARSF	23	3021960	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08		3021960	152248600	78	4322											
BCOR	54880	broad.mit.edu	37	chrX	39930272	39930272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcctcctccagggtgacCgactttggctttttgtcctg	4	14	11	12	1	0	1	0	1	0	0	3	2	3	1	5	3	0	1	5	3	0	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:39930272C>T	uc004den.4	-	5	3484	c.3192G>A	c.(3190-3192)tcG>tcA	p.S1064S	BCOR_uc004dep.4_Silent_p.S1064S|BCOR_uc004deo.4_Silent_p.S1046S|BCOR_uc004dem.4_Silent_p.S1064S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1064					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAGGGTGACCGACTTTGGCT	0.517			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39930272	C	T	39930272	2	4	66	1	0	0	0	0	0	0	0	1	1391	639	23	1		1	BCOR	23	39930272	Silent	SNP	C	TCGA-06-0876-01A-01W-0424-08	36908312	39930272	115340288	79	4323											
SLC38A5	92745	broad.mit.edu	37	chrX	48319395	48319395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaggtgaggtatccaaagGttgctgtgagcccatacatg	12	9	13	7	0	0	3	0	2	0	1	1	3	1	3	2	3	3	3	2	3	4	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:48319395G>T	uc010nid.3	-	12	1107	c.929C>A	c.(928-930)aCc>aAc	p.T310N	SLC38A5_uc004djk.4_Missense_Mutation_p.T259N	NM_033518	NP_277053	Q8WUX1	S38A5_HUMAN	Homo sapiens solute carrier family 38, member 5 (SLC38A5), mRNA.	310					cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				breast(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	19						GTATCCAAAGGTTGCTGTGAG	0.612													T	48319395	G	T	48319395	3	4	66	1	0	0	0	0	1	0	0	0	14701	1261	44	4	509	4	SLC38A5	23	48319395	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	8389123	48319395	106951165	80	4324											
HUWE1	10075	broad.mit.edu	37	chrX	53573431	53573431	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtataacccagatggcgGgctccattcagtagcagctt	10	9	12	10	1	1	1	1	0	0	1	2	1	2	1	2	3	3	5	2	3	3	5			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:53573431G>A	uc004dsp.3	-	69	11283	c.10881C>T	c.(10879-10881)gcC>gcT	p.A3627A	HUWE1_uc004dsn.3_Silent_p.A2435A|HUWE1_uc004dsq.1_5'Flank	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3627					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCAGATGGCGGGCTCCATTCA	0.498													A	53573431	G	A	53573431	2	1	66	1	0	0	0	0	0	0	0	1	7519	1219	43	2		2	HUWE1	23	53573431	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	5254036	53573431	101697129	81	4325											
ARMCX2	9823	broad.mit.edu	37	chrX	100911799	100911799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgagccccaggggttGctttcttggcagctgatgtt	5	13	14	9	0	1	2	0	2	1	0	1	2	1	2	2	3	3	5	2	3	0	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:100911799G>A	uc010nnt.2	-	4	1585	c.776C>T	c.(775-777)gCa>gTa	p.A259V	ARMCX2_uc004eid.2_Missense_Mutation_p.A259V|ARMCX2_uc004eie.3_Missense_Mutation_p.A259V|ARMCX2_uc004eif.3_Missense_Mutation_p.A259V|ARMCX2_uc004eig.3_Missense_Mutation_p.A259V|ARMCX2_uc022caq.1_Missense_Mutation_p.A259V	NM_177949	NP_808818	Q7L311	ARMX2_HUMAN	Homo sapiens armadillo repeat containing, X-linked 2 (ARMCX2), mRNA.	259	Ala-rich.					integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CCCAGGGGTTGCTTTCTTGGC	0.597													A	100911799	G	A	100911799	3	1	66	1	0	0	0	0	1	0	0	0	965	1319	46	2	1126	2	ARMCX2	23	100911799	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	47338368	100911799	54358761	82	4326											
NRK	203447	broad.mit.edu	37	chrX	105153109	105153109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcacctaggcttctgcaGgtacagtcccaggtatccaa	10	8	11	12	0	1	0	0	0	1	0	3	0	3	0	3	4	2	5	3	4	4	4			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:105153109G>A	uc004emd.3	+	12	1779	c.1476G>A	c.(1474-1476)caG>caA	p.Q492Q	NRK_uc010npc.1_Silent_p.Q160Q	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	492	Gln-rich.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCTTCTGCAGGTACAGTCCC	0.537										HNSCC(51;0.14)			A	105153109	G	A	105153109	2	1	66	1	0	0	0	0	0	0	0	1	10731	991	35	2		2	NRK	23	105153109	Silent	SNP	G	TCGA-06-0876-01A-01W-0424-08	4241310	105153109	50117451	83	4327											
DCX	1641	broad.mit.edu	37	chrX	110644367	110644367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcttcaccccactgcGgatgatggtaaccagcttgg	8	8	12	13	2	1	1	1	1	0	0	1	3	1	2	4	4	3	3	4	4	1	3			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:110644367G>A	uc004epd.3	-	2	971	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	DCX_uc011msv.2_Missense_Mutation_p.R267C|DCX_uc004epe.3_Missense_Mutation_p.R186C|DCX_uc004epf.3_Missense_Mutation_p.R186C|DCX_uc004epg.3_Missense_Mutation_p.R186C	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	267	Doublecortin 2.		R -> C (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R267L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ACCCCACTGCGGATGATGGTA	0.537													A	110644367	G	A	110644367	3	1	66	1	0	0	0	0	1	0	0	0	4352	1116	39	1	561	1	DCX	23	110644367	Missense_Mutation	SNP	G	TCGA-06-0876-01A-01W-0424-08	5491258	110644367	44626193	84	4328											
CNGA2	1260	broad.mit.edu	37	chrX	150912487	150912487	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactggcagtggtggctgaTgatggtgtgactcagtatgc	9	11	15	6	0	1	3	1	3	0	0	1	3	1	3	0	4	2	3	0	4	2	1			TCGA-06-0876-01A-01W-0424-08	TCGA-06-0876-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2f27319-4e84-4b12-bce1-623ea20722be	48e076de-da4b-49a6-8054-5b4a0ed77637	g.chrX:150912487T>A	uc004fey.1	+	6	1736	c.1512T>A	c.(1510-1512)gaT>gaA	p.D504E		NM_005140	NP_005131	Q16280	CNGA2_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 2 (CNGA2), mRNA.	504					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTGGCTGATGATGGTGTGA	0.512													A	150912487	T	A	150912487	3	1	66	1	0	0	0	0	1	0	0	0	3628	1461	51	5	1534	5	CNGA2	23	150912487	Missense_Mutation	SNP	T	TCGA-06-0876-01A-01W-0424-08	40268120	150912487	4358073	85	4329											
NPHP4	261734	broad.mit.edu	37	chr1	5965822	5965822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccaggtgggagatacCggcctccaacgggaactcct	8	7	13	13	2	0	1	0	0	0	1	3	3	3	2	5	5	3	1	5	5	3	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:5965822C>T	uc001alq.2	-	13	1901	c.1633G>A	c.(1633-1635)Ggt>Agt	p.G545S	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript|NPHP4_uc009vlu.2_5'Flank	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	545					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGAGATACCGGCCTCCAAC	0.582													T	5965822	C	T	5965822	3	4	67	1	0	0	0	0	1	0	0	0	10657	652	23	1	2715	1	NPHP4	1	5965822	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		5965822	243284799	1	4330											
PUM1	9698	broad.mit.edu	37	chr1	31479941	31479941	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaaactttttacctggCaagagctgctgcaaattaaa	14	11	6	10	0	0	1	0	0	0	1	1	1	1	1	2	1	5	4	2	1	7	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:31479941C>G	uc001bsi.1	-	3	554	c.441G>C	c.(439-441)ttG>ttC	p.L147F	PUM1_uc001bsh.1_Missense_Mutation_p.L147F|PUM1_uc001bsj.1_Missense_Mutation_p.L147F|PUM1_uc010oga.1_Intron|PUM1_uc001bsk.1_Missense_Mutation_p.L183F|PUM1_uc010ogb.1_Intron	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	147					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTTTACCTGGCAAGAGCTGCT	0.393													G	31479941	C	G	31479941	3	3	67	1	0	0	0	0	1	0	0	0	12913	709	25	4	3201	4	PUM1	1	31479941	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	25514119	31479941	217770680	2	4331											
POLR3C	10623	broad.mit.edu	37	chr1	145608488	145608488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcaacagaagctcctcaaCaatcagctctccagtgtcac	12	9	6	14	0	5	1	4	0	1	1	7	1	6	1	2	0	4	3	2	0	4	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:145608488C>T	uc001eog.3	-	2	401	c.358G>A	c.(358-360)Gtt>Att	p.V120I	RNF115_uc001eoj.3_5'Flank|POLR3C_uc001eoh.3_Missense_Mutation_p.V107I|POLR3C_uc009wix.3_Missense_Mutation_p.V107I	NM_006468	NP_006459	Q9BUI4	RPC3_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide C (62kD) (POLR3C), mRNA.	107				SA -> CT (in Ref. 1; AAB63675).	innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			AGCTCCTCAACAATCAGCTCT	0.493													T	145608488	C	T	145608488	3	4	67	1	0	0	0	0	1	0	0	0	12307	478	17	2	1337	2	POLR3C	1	145608488	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	114128547	145608488	103642133	3	4332											
C1orf129	80133	broad.mit.edu	37	chr1	170961347	170961347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcatgttctcaggcgagCgtggcccctcacgtgctgaa	6	8	14	13	4	2	1	2	1	1	0	3	2	2	1	2	3	2	3	2	3	1	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:170961347C>T	uc010plz.2	+	11	1225	c.1071C>T	c.(1069-1071)agC>agT	p.S357S	C1orf129_uc001ghg.3_Silent_p.S357S|C1orf129_uc009wvy.3_Silent_p.S164S	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	357							binding	p.A356V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCAGGCGAGCGTGGCCCCTC	0.493													T	170961347	C	T	170961347	2	4	67	1	0	0	0	0	0	0	0	1	2016	767	27	1		1	C1orf129	1	170961347	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	25352859	170961347	78289274	4	4333											
RYR2	6262	broad.mit.edu	37	chr1	237604756	237604756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgtggacgtgaaatcCgtgagaatgggatctataca	12	10	12	7	2	2	2	0	2	2	1	3	5	3	4	1	2	1	0	1	2	4	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:237604756C>T	uc001hyl.1	+	12	1263	c.1143C>T	c.(1141-1143)tcC>tcT	p.S381S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	381	MIR 5.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.S379S(1)|p.V380V(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACGTGAAATCCGTGAGAATGG	0.348													T	237604756	C	T	237604756	2	4	67	1	0	0	0	0	0	0	0	1	13860	639	23	1		1	RYR2	1	237604756	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	66643409	237604756	11645865	5	4334											
PLD5	200150	broad.mit.edu	37	chr1	242383388	242383388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccggcccttgttgtaagCggtcatgttcatgtacgtca	7	12	11	11	3	3	0	3	0	0	0	3	0	3	0	2	2	3	4	2	2	2	5	rs140243407	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:242383388C>T	uc001hzn.2	-	5	864	c.637G>A	c.(637-639)Gct>Act	p.A213T	PLD5_uc021pll.1_Missense_Mutation_p.A121T|PLD5_uc001hzl.4_Missense_Mutation_p.A151T|PLD5_uc001hzm.4_Missense_Mutation_p.A5T|PLD5_uc001hzo.2_Missense_Mutation_p.A121T	NM_152666	NP_001182741	Q8N7P1	PLD5_HUMAN	Homo sapiens phospholipase D family, member 5 (PLD5), transcript variant 1, mRNA.	213						integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			TTGTTGTAAGCGGTCATGTTC	0.577													T	242383388	C	T	242383388	3	4	67	1	0	0	0	0	1	0	0	0	12126	768	27	1	997	1	PLD5	1	242383388	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	4778632	242383388	6867233	6	4335											
OR2B11	127623	broad.mit.edu	37	chr1	247614785	247614785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagaatggcaattgcaccGtcaggaccacctgcacgaag	12	5	11	13	3	1	1	1	0	0	1	1	3	1	2	3	2	2	4	3	2	3	1	rs149375684	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr1:247614785G>A	uc010pyx.2	-	0	500	c.500C>T	c.(499-501)aCg>aTg	p.T167M		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T167M(2)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			CAATTGCACCGTCAGGACCAC	0.592													A	247614785	G	A	247614785	3	1	67	1	0	0	0	0	1	0	0	0	11064	1145	40	1	456	1	OR2B11	1	247614785	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	5231397	247614785	1635836	7	4336											
CLIP4	79745	broad.mit.edu	37	chr2	29386734	29386734	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgaaaaaccccatggCaagaatgatggttcagttgg	13	9	12	7	0	1	3	1	2	0	1	1	4	1	3	2	3	2	4	2	3	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:29386734C>G	uc002rmv.3	+	12	1811	c.1572C>G	c.(1570-1572)ggC>ggG	p.G524G	CLIP4_uc002rmu.3_Silent_p.G524G|CLIP4_uc002rmw.3_Non-coding_Transcript	NM_024692	NP_078968	Q8N3C7	CLIP4_HUMAN	Homo sapiens CAP-GLY domain containing linker protein family, member 4 (CLIP4), mRNA.	524	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AACCCCATGGCAAGAATGATG	0.388													G	29386734	C	G	29386734	2	3	67	1	0	0	0	0	0	0	0	1	3566	697	25	4		4	CLIP4	2	29386734	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08		29386734	213812639	8	4337											
ACTG2	72	broad.mit.edu	37	chr2	74128551	74128551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccctccattgtgggccGccctcgccaccaggtgcgtg	3	9	11	18	3	0	0	0	0	0	0	3	0	2	0	7	2	1	0	7	2	0	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:74128551G>A	uc002sjw.3	+	1	235	c.113G>A	c.(112-114)cGc>cAc	p.R38H	ACTG2_uc010fex.1_Missense_Mutation_p.R38H|ACTG2_uc010yrn.2_Missense_Mutation_p.R38H|ACTG2_uc010fey.3_Missense_Mutation_p.R38H	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	38					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						ATTGTGGGCCGCCCTCGCCAC	0.637													A	74128551	G	A	74128551	3	1	67	1	0	0	0	0	1	0	0	0	197	1087	38	1	115	1	ACTG2	2	74128551	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	44741817	74128551	169070822	9	4338											
CNTNAP5	129684	broad.mit.edu	37	chr2	125547685	125547685	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacctgtgtgattgcaccAattcaccttatgaagggccc	9	11	9	12	0	1	2	1	2	0	0	1	2	1	2	4	1	2	2	4	1	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:125547685A>T	uc010flu.3	+	17	3323	c.2959A>T	c.(2959-2961)Aat>Tat	p.N987Y	CNTNAP5_uc002tno.3_Missense_Mutation_p.N986Y	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	986	EGF-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGATTGCACCAATTCACCTTA	0.552													T	125547685	A	T	125547685	3	4	67	1	0	0	0	0	1	0	0	0	3681	130	5	5	3026	5	CNTNAP5	2	125547685	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	51419134	125547685	117651688	10	4339											
CDCA7	83879	broad.mit.edu	37	chr2	174231123	174231123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccctgccttcgaaaccGttatggtgaagaggtcaggg	8	9	14	10	2	1	2	1	1	0	1	2	3	1	2	4	4	2	1	4	4	3	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:174231123G>A	uc002uic.1	+	7	1279	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	CDCA7_uc002uid.1_Missense_Mutation_p.R304H|CDCA7_uc010zej.1_Missense_Mutation_p.R339H|CDCA7_uc010zek.1_Missense_Mutation_p.R262H	NM_031942	NP_114148	Q9BWT1	CDCA7_HUMAN	Homo sapiens cell division cycle associated 7 (CDCA7), transcript variant 1, mRNA.	304					regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.116)			CTTCGAAACCGTTATGGTGAA	0.557													A	174231123	G	A	174231123	3	1	67	1	0	0	0	0	1	0	0	0	3120	1145	40	1	1178	1	CDCA7	2	174231123	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	48683438	174231123	68968250	11	4340											
IRS1	3667	broad.mit.edu	37	chr2	227661504	227661504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctctggggatggcgtcTgatgggattgatgatctgct	6	13	14	8	1	3	3	0	3	3	0	4	5	3	5	0	4	1	1	0	4	0	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr2:227661504T>C	uc021vxn.1	-	0	1951	c.1951A>G	c.(1951-1953)Aga>Gga	p.R651G	IRS1_uc002voh.4_Missense_Mutation_p.R651G	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	651					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGATGGCGTCTGATGGGATTG	0.612											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	227661504	T	C	227661504	3	2	67	1	0	0	0	0	1	0	0	0	7898	1588	55	3	1781	3	IRS1	2	227661504	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	53430381	227661504	15537869	12	4341											
EOMES	8320	broad.mit.edu	37	chr3	27761789	27761789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggattgagtccgtttatGttgaagctcaagaaaggaaa	13	11	13	4	1	1	3	1	2	0	1	2	5	2	5	1	2	1	3	1	2	5	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:27761789G>A	uc003cdy.3	-	1	909	c.909C>T	c.(907-909)aaC>aaT	p.N303N	EOMES_uc003cdx.3_Silent_p.N303N|EOMES_uc010hfn.2_Silent_p.N303N|EOMES_uc011axc.1_Silent_p.N8N	NM_005442	NP_005433	O95936	EOMES_HUMAN	Homo sapiens eomesodermin (EOMES), mRNA.	303					CD8-positive, alpha-beta T cell differentiation involved in immune response|cell differentiation involved in embryonic placenta development|endoderm formation|mesoderm formation|mesodermal to mesenchymal transition involved in gastrulation|positive regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)	21						GTCCGTTTATGTTGAAGCTCA	0.532													A	27761789	G	A	27761789	2	1	67	1	0	0	0	0	0	0	0	1	5188	1368	48	2		2	EOMES	3	27761789	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		27761789	170260641	13	4342											
ZNF197	10168	broad.mit.edu	37	chr3	44685661	44685661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccataccattgaggaattCtcttggctacaaaacaccaa	15	10	5	11	0	1	1	0	1	1	0	3	2	2	2	3	2	3	1	3	2	6	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:44685661C>G	uc003cnm.3	+	5	3245	c.3039C>G	c.(3037-3039)ttC>ttG	p.F1013L	ZNF197_uc003cnn.3_Intron|ZNF197_uc003cno.3_Intron|ZNF197_uc003cnp.3_Intron	NM_006991	NP_008922	O14709	ZN197_HUMAN	Homo sapiens zinc finger protein 197 (ZNF197), transcript variant 1, mRNA.	1013					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		TTGAGGAATTCTCTTGGCTAC	0.363													G	44685661	C	G	44685661	3	3	67	1	0	0	0	0	1	0	0	0	17860	912	32	4	3057	4	ZNF197	3	44685661	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	16923872	44685661	153336769	14	4343											
ITIH3	3699	broad.mit.edu	37	chr3	52840313	52840313	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatgtgtcaccagtggaCggggatccccacttcatcat	9	11	9	12	1	4	0	3	0	1	0	5	2	5	2	3	3	0	0	3	3	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:52840313C>T	uc003dfv.2	+	17	1983	c.1947C>T	c.(1945-1947)gaC>gaT	p.D649D	ITIH3_uc011bek.1_Intron	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	649					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CACCAGTGGACGGGGATCCCC	0.582													T	52840313	C	T	52840313	2	4	67	1	0	0	0	0	0	0	0	1	7963	535	19	1		1	ITIH3	3	52840313	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	8154652	52840313	145182117	15	4344											
EPHA3	2042	broad.mit.edu	37	chr3	89468496	89468496	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagcattatgggacagtTtgaccaccccaatatcattc	13	10	7	11	0	1	1	1	1	0	0	2	2	1	2	3	1	2	3	3	1	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:89468496T>A	uc003dqy.3	+	10	2255	c.2030T>A	c.(2029-2031)tTt>tAt	p.F677Y	EPHA3_uc021xbf.1_Missense_Mutation_p.F677Y	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	677	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGGACAGTTTGACCACCCC	0.413										TSP Lung(6;0.00050)			A	89468496	T	A	89468496	3	1	67	1	0	0	0	0	1	0	0	0	5209	1841	64	5	2098	5	EPHA3	3	89468496	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	36628183	89468496	108553934	16	4345											
ADCY5	111	broad.mit.edu	37	chr3	123166426	123166426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctcagaggcgctgcGtggctgcggcagcagcaggc	6	5	17	13	3	1	1	1	0	0	1	1	2	1	1	1	4	5	5	1	4	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:123166426G>A	uc003egh.2	-	0	967	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	323					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GAGGCGCTGCGTGGCTGCGGC	0.687													A	123166426	G	A	123166426	3	1	67	1	0	0	0	0	1	0	0	0	297	1145	40	1	2902	1	ADCY5	3	123166426	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	33697930	123166426	74856004	17	4346											
TRH	7200	broad.mit.edu	37	chr3	129694827	129694827	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcgcctcctcttcctccgGgaaaacatccagcggctgca	8	7	10	16	3	1	0	0	0	1	0	5	2	5	1	5	2	4	2	5	2	2	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:129694827G>A	uc003enc.3	+	1	729	c.168G>A	c.(166-168)cgG>cgA	p.R56R		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	56					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						TCTTCCTCCGGGAAAACATCC	0.672													A	129694827	G	A	129694827	2	1	67	1	0	0	0	0	0	0	0	1	16579	1219	43	2		2	TRH	3	129694827	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	6528401	129694827	68327603	18	4347											
MBNL1	4154	broad.mit.edu	37	chr3	152018103	152018103	+	Frame_Shift_Del	DEL	A	A	-																															gtaaatttgcacatccttcgAaaagctgccaagttgaaaat																										TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:152018103delA	uc003ezm.3	+	0	910	c.121delA	c.(121-123)aaafs	p.K41fs	MBNL1_uc003ezh.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezi.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezp.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezn.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezo.3_Frame_Shift_Del_p.K41fs|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	41					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ACATCCTTCGAAAAGCTGCCA	0.403													-	152018103	A	-	152018103	7	5	67	1	0	1	0	1	0	0	0	0	9428	247	9	0	123	0	MBNL1	3	152018103	Frame_Shift_Del	DEL	A	TCGA-06-0877-01A-01W-0424-08	22323276	152018103	46004327	19	4348											
DGKG	1608	broad.mit.edu	37	chr3	186015248	186015248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcgtctgctttggtggcaTtatctgcattctgtatatta	6	18	8	9	1	3	0	0	0	3	0	4	0	3	0	1	2	2	4	1	2	4	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr3:186015248T>G	uc003fqa.3	-	4	872	c.335A>C	c.(334-336)aAt>aCt	p.N112T	DGKG_uc003fqb.3_Missense_Mutation_p.N112T|DGKG_uc003fqc.3_Missense_Mutation_p.N112T|DGKG_uc011brx.2_Missense_Mutation_p.N112T	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	112					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGGTGGCATTATCTGCATT	0.458													G	186015248	T	G	186015248	3	3	67	1	0	0	0	0	1	0	0	0	4508	1493	52	5	2124	5	DGKG	3	186015248	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	33997145	186015248	12007182	20	4349											
TLR6	10333	broad.mit.edu	37	chr4	38829222	38829222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgttcctggccctgcgccGagtctgggtccactggcaca	5	10	12	14	2	1	0	0	0	1	0	3	1	3	0	4	3	1	2	4	3	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:38829222G>A	uc010ifg.2	-	1	1994	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	TLR6_uc003gtm.3_Missense_Mutation_p.R625W	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	625					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCCCTGCGCCGAGTCTGGGTC	0.512													A	38829222	G	A	38829222	3	1	67	1	0	0	0	0	1	0	0	0	16055	1057	37	1	521	1	TLR6	4	38829222	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		38829222	152325054	21	4350											
UGT2B10	7365	broad.mit.edu	37	chr4	69696459	69696459	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagcccacaacctcacCtggttccagtaccactcttt	8	11	6	16	0	2	0	1	0	1	0	3	0	3	0	5	1	4	4	5	1	2	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:69696459C>G	uc003hee.3	+	5	1474	c.1449C>G	c.(1447-1449)acC>acG	p.T483T	UGT2B10_uc011cam.2_Silent_p.T399T	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	483					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ACAACCTCACCTGGTTCCAGT	0.483													G	69696459	C	G	69696459	2	3	67	1	0	0	0	0	0	0	0	1	17058	668	24	4		4	UGT2B10	4	69696459	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	30867237	69696459	121457817	22	4351											
PROL1	58503	broad.mit.edu	37	chr4	71275346	71275346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaacctcgactctttccgGgttatccaaacctacatttc	10	12	5	14	2	1	0	0	0	1	0	5	2	3	0	4	1	3	1	4	1	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:71275346G>T	uc003hfi.3	+	2	475	c.301G>T	c.(301-303)Ggt>Tgt	p.G101C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	101	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	p.G101V(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				ACTCTTTCCGGGTTATCCAAA	0.398													T	71275346	G	T	71275346	3	4	67	1	0	0	0	0	1	0	0	0	12640	1232	43	4	307	4	PROL1	4	71275346	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	1578887	71275346	119878930	23	4352											
AFM	173	broad.mit.edu	37	chr4	74365895	74365895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatttatttacctttcacGcagacatgtgtcaatctcag	12	14	6	9	1	3	2	3	0	1	2	4	2	3	2	1	0	1	1	1	0	4	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr4:74365895G>A	uc003hhb.3	+	11	1628	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	533	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TACCTTTCACGCAGACATGTG	0.393													A	74365895	G	A	74365895	3	1	67	1	0	0	0	0	1	0	0	0	361	1087	38	1	1643	1	AFM	4	74365895	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	3090549	74365895	116788381	24	4353											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146486	5146486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtctgtgcagactttacCgccagaggacttctgtttct	8	14	9	10	1	3	2	0	0	3	2	3	3	3	3	2	1	2	2	2	1	2	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:5146486C>T	uc003jdl.3	+	2	557	c.419C>T	c.(418-420)cCg>cTg	p.P140L	ADAMTS16_uc003jdk.1_Missense_Mutation_p.P140L|ADAMTS16_uc003jdj.1_Missense_Mutation_p.P140L	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	140					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P140L(3)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACTTTACCGCCAGAGGAC	0.522													T	5146486	C	T	5146486	3	4	67	1	0	0	0	0	1	0	0	0	261	652	23	1	429	1	ADAMTS16	5	5146486	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		5146486	175768774	25	4354											
RICTOR	253260	broad.mit.edu	37	chr5	38972038	38972038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggatcccagaatttcCaggtttacataaattaataa	16	12	6	7	0	0	2	0	0	0	2	2	3	2	3	2	2	1	1	2	2	6	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:38972038C>T	uc003jlo.2	-	10	935	c.913G>A	c.(913-915)Gga>Aga	p.G305R	RICTOR_uc003jlp.2_Missense_Mutation_p.G305R|RICTOR_uc010ivf.2_Missense_Mutation_p.G20R|RICTOR_uc003jlq.1_Missense_Mutation_p.G289R	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	305					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CCAGAATTTCCAGGTTTACAT	0.299													T	38972038	C	T	38972038	3	4	67	1	0	0	0	0	1	0	0	0	13447	603	21	2	4325	2	RICTOR	5	38972038	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	33825552	38972038	141943222	26	4355											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	67	1	0	0	0	0	1	0	0	0	11995	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	28617100	67589138	113326122	27	4356											
ATP10B	23120	broad.mit.edu	37	chr5	160047524	160047524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgccctggggcaggCgcacagtcacctgctcaggt	6	6	16	13	1	2	0	2	0	0	0	2	0	2	0	2	6	2	4	2	6	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr5:160047524C>T	uc003lym.1	-	14	3093	c.2246G>A	c.(2245-2247)cGc>cAc	p.R749H	ATP10B_uc010jit.1_Missense_Mutation_p.R66H|ATP10B_uc003lyn.3_Missense_Mutation_p.R307H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	749					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGGGCAGGCGCACAGTCAC	0.612													T	160047524	C	T	160047524	3	4	67	1	0	0	0	0	1	0	0	0	1122	768	27	1	2187	1	ATP10B	5	160047524	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	92458386	160047524	20867736	28	4357											
ALDH5A1	7915	broad.mit.edu	37	chr6	24502755	24502755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatttcttttgcaggagaGgagttcattacttcggaagt	9	16	11	5	1	2	1	1	0	1	1	3	4	2	3	0	3	2	3	0	3	3	7			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:24502755G>A	uc003nef.3	+	1	387	c.359G>A	c.(358-360)aGg>aAg	p.R120K	ALDH5A1_uc003neg.3_Missense_Mutation_p.R120K	NM_170740	NP_733936	P51649	SSDH_HUMAN	Homo sapiens aldehyde dehydrogenase 5 family, member A1 (ALDH5A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	120					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	TTGCAGGAGAGGAGTTCATTA	0.343													A	24502755	G	A	24502755	3	1	67	1	0	0	0	0	1	0	0	0	502	1000	35	2	365	2	ALDH5A1	6	24502755	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		24502755	146612312	29	4358											
RHAG	6005	broad.mit.edu	37	chr6	49574864	49574864	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcactttttatgctgaccTgtcatcagacctccaacaac	10	13	5	13	0	3	2	3	1	0	1	4	2	4	2	3	0	3	2	3	0	3	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:49574864T>G	uc003ozk.4	-	8	1200	c.1138_splice	c.e8+1	p.G380_splice	RHAG_uc010jzl.3_Splice_Site_p.G380_splice|RHAG_uc010jzm.3_Splice_Site_p.R339_splice	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	380			G -> V (in RHN).		carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TATGCTGACCTGTCATCAGAC	0.398													G	49574864	T	G	49574864	2	3	67	1	0	0	0	0	0	0	0	1	13404	1594	55	5		5	RHAG	6	49574864	Silent	SNP	T	TCGA-06-0877-01A-01W-0424-08	25072109	49574864	121540203	30	4359											
GSTA4	2941	broad.mit.edu	37	chr6	52850344	52850344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaacttcatcccgtcaatTtcaaccatgggcacttgttg	10	12	6	13	1	3	0	3	0	0	0	4	0	4	0	3	1	2	2	3	1	3	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:52850344T>G	uc003pbf.3	-	3	327	c.177A>C	c.(175-177)gaA>gaC	p.E59D	GSTA4_uc003pbd.3_5'UTR	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	59	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity	p.E59K(1)		endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TCCCGTCAATTTCAACCATGG	0.468													G	52850344	T	G	52850344	3	3	67	1	0	0	0	0	1	0	0	0	6888	1838	64	5	507	5	GSTA4	6	52850344	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08	3275480	52850344	118264723	31	4360											
AMD1	262	broad.mit.edu	37	chr6	111210086	111210086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcatgtttgtctccaagaGacgtttcattttgaagacat	11	15	8	7	1	2	3	1	1	1	2	3	4	2	3	1	0	1	3	1	0	3	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr6:111210086G>A	uc003puk.1	+	2	546	c.224G>A	c.(223-225)aGa>aAa	p.R75K	AMD1_uc011eay.1_Missense_Mutation_p.R6K|AMD1_uc003pul.1_Intron|AMD1_uc011eaz.1_Missense_Mutation_p.R46K|AMD1_uc011eba.1_Intron	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	75					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GTCTCCAAGAGACGTTTCATT	0.393													A	111210086	G	A	111210086	3	1	67	1	0	0	0	0	1	0	0	0	566	942	33	2	234	2	AMD1	6	111210086	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	58359742	111210086	59904981	32	4361											
CCDC129	223075	broad.mit.edu	37	chr7	31614192	31614192	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgggagatagatccagTggagattctcttggatctgg	9	14	13	5	0	2	3	0	0	2	3	4	6	3	4	1	4	0	0	1	4	1	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:31614192T>C	uc011kae.2	+	6	524	c.512T>C	c.(511-513)gTg>gCg	p.V171A	CCDC129_uc011kad.1_Missense_Mutation_p.V155A|CCDC129_uc003tcj.1_Missense_Mutation_p.V145A|CCDC129_uc003tci.1_Missense_Mutation_p.V144A|CCDC129_uc003tck.1_Missense_Mutation_p.V53A	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	145										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						ATAGATCCAGTGGAGATTCTC	0.443													C	31614192	T	C	31614192	3	2	67	1	0	0	0	0	1	0	0	0	2790	1696	59	3	456	3	CCDC129	7	31614192	Missense_Mutation	SNP	T	TCGA-06-0877-01A-01W-0424-08		31614192	127524471	33	4362											
NPTX2	4885	broad.mit.edu	37	chr7	98254242	98254242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacccccaggcaatagcGcctttaagtcaccagatgcg	11	6	8	16	2	1	1	1	0	0	1	1	1	1	1	5	1	3	1	5	1	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:98254242G>A	uc003upl.2	+	2	829	c.652G>A	c.(652-654)Gcc>Acc	p.A218T		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	218					synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCAATAGCGCCTTTAAGTC	0.582													A	98254242	G	A	98254242	3	1	67	1	0	0	0	0	1	0	0	0	10679	1087	38	1	662	1	NPTX2	7	98254242	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	66640050	98254242	60884421	34	4363											
SLC26A4	5172	broad.mit.edu	37	chr7	107350617	107350617	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaccaagtgaaatctcaAgagggtcaaggttccatttt	14	10	9	8	0	2	3	2	1	1	2	4	3	3	3	2	2	1	1	2	2	5	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:107350617A>G	uc003vep.3	+	18	2432	c.2208A>G	c.(2206-2208)caA>caG	p.Q736Q	SLC26A4_uc011kmb.2_Silent_p.Q323Q|SLC26A4_uc011kmc.2_Silent_p.Q297Q|SLC26A4_uc011kmd.2_Silent_p.Q305Q	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	736					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						TGAAATCTCAAGAGGGTCAAG	0.363									Pendred syndrome				G	107350617	A	G	107350617	2	3	67	1	0	0	0	0	0	0	0	1	14613	69	3	3		3	SLC26A4	7	107350617	Silent	SNP	A	TCGA-06-0877-01A-01W-0424-08	9096375	107350617	51788046	35	4364											
SHH	6469	broad.mit.edu	37	chr7	155599026	155599026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggatatgtgccttggactCgtagtacacccagtcgaagc	9	10	12	10	2	0	0	0	0	0	0	2	3	0	2	2	2	3	2	2	2	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599026C>T	uc003wmk.1	-	1	677	c.526G>A	c.(526-528)Gag>Aag	p.E176K	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.E89K|SHH_uc003wmj.1_Missense_Mutation_p.E89K	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	176			Missing (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCTTGGACTCGTAGTACACC	0.652													T	155599026	C	T	155599026	3	4	67	1	0	0	0	0	1	0	0	0	14373	893	31	1	870	1	SHH	7	155599026	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	48248409	155599026	3539637	36	4365			1	11		2	2	16	C		4.263925e-05
SHH	6469	broad.mit.edu	37	chr7	155599041	155599041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactcgtagtacacccagtCgaagccggcctccaccgcca	9	5	10	17	4	0	0	0	0	0	0	3	2	1	1	6	2	2	2	6	2	3	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr7:155599041C>T	uc003wmk.1	-	1	662	c.511G>A	c.(511-513)Gac>Aac	p.D171N	SHH_uc003wmh.1_Non-coding_Transcript|SHH_uc003wmi.1_Missense_Mutation_p.D84N|SHH_uc003wmj.1_Missense_Mutation_p.D84N	NM_000193	NP_000184	Q15465	SHH_HUMAN	Homo sapiens sonic hedgehog (SHH), mRNA.	171			D -> H (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TACACCCAGTCGAAGCCGGCC	0.652													T	155599041	C	T	155599041	3	4	67	1	0	0	0	0	1	0	0	0	14373	884	31	1	885	1	SHH	7	155599041	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	15	155599041	3539622	37	4366			1	11		2	2	16	C		4.263925e-05
DLC1	10395	broad.mit.edu	37	chr8	12952442	12952442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgaatccgggacttgaCccccgattttctgaagagcc	9	9	10	13	2	1	4	0	3	1	1	2	6	2	5	5	1	2	0	5	1	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:12952442C>T	uc003wwm.2	-	11	3796	c.3352G>A	c.(3352-3354)Gtc>Atc	p.V1118I	DLC1_uc003wwk.1_Missense_Mutation_p.V681I|DLC1_uc003wwl.1_Missense_Mutation_p.V715I|DLC1_uc011kxx.1_Missense_Mutation_p.V607I	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1118	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGGGACTTGACCCCCGATTTT	0.507													T	12952442	C	T	12952442	3	4	67	1	0	0	0	0	1	0	0	0	4589	507	18	2	1262	2	DLC1	8	12952442	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		12952442	133411580	38	4367											
ELP3	55140	broad.mit.edu	37	chr8	28017799	28017799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgggaaacattcttGtcatacgaagacccagatca	12	9	11	9	1	3	2	2	0	1	2	3	4	3	3	1	3	2	1	1	3	3	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:28017799G>A	uc003xgo.4	+	12	1459	c.1311G>A	c.(1309-1311)ttG>ttA	p.L437L	ELP3_uc003xgn.4_Silent_p.L422L|ELP3_uc011las.2_Silent_p.L318L|ELP3_uc011lat.2_Silent_p.L318L|ELP3_uc011laq.2_Silent_p.L365L|ELP3_uc011lar.2_Silent_p.L345L	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	437	N-acetyltransferase.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AAACATTCTTGTCATACGAAG	0.383													A	28017799	G	A	28017799	2	1	67	1	0	0	0	0	0	0	0	1	5122	1368	48	2		2	ELP3	8	28017799	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	15065357	28017799	118346223	39	4368											
CHD7	55636	broad.mit.edu	37	chr8	61764695	61764695	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagctataaaaggcaacAgatgaggcaagaggccctaa	16	4	12	9	1	0	3	0	1	0	2	0	3	0	3	1	3	2	4	1	3	6	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:61764695A>T	uc003xue.3	+	28	6275	c.5783A>T	c.(5782-5784)cAg>cTg	p.Q1928L	CHD7_uc022aux.1_Intron	NM_017780	NP_060250	Q9P2D1	CHD7_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 7 (CHD7), mRNA.	1928					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AAAAGGCAACAGATGAGGCAA	0.527													T	61764695	A	T	61764695	3	4	67	1	0	0	0	0	1	0	0	0	3360	188	7	5	5893	5	CHD7	8	61764695	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	33746896	61764695	84599327	40	4369											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744582	70744582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagcatggccaaggcGgaggacaccgagaaggtttt	10	7	15	9	2	0	1	0	0	0	1	1	5	1	4	3	6	1	2	3	6	2	2	rs145247874		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:70744582G>A	uc003xyl.3	-	1	1034	c.327C>T	c.(325-327)tcC>tcT	p.S109S	SLCO5A1_uc010lzb.3_Silent_p.S109S|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.S109S|SLCO5A1_uc010lzc.2_Silent_p.S109S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	109						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TGGCCAAGGCGGAGGACACCG	0.622											OREG0018815	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70744582	G	A	70744582	2	1	67	1	0	0	0	0	0	0	0	1	14825	1103	39	1		1	SLCO5A1	8	70744582	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	8979887	70744582	75619440	41	4370											
RIMS2	9699	broad.mit.edu	37	chr8	105160868	105160868	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgcaaagcagacaaatGggcatatcagggaagaacat	20	5	10	6	0	1	2	1	0	0	2	1	3	1	3	0	2	3	3	0	2	7	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr8:105160868G>C	uc003yls.3	+	22	3421	c.3180G>C	c.(3178-3180)atG>atC	p.M1060I	RIMS2_uc003ylp.3_Intron|RIMS2_uc003ylw.2_Missense_Mutation_p.M1049I|RIMS2_uc003ylq.3_Intron|RIMS2_uc003ylr.3_Intron	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	489					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GCAGACAAATGGGCATATCAG	0.433										HNSCC(12;0.0054)			C	105160868	G	C	105160868	3	2	67	1	0	0	0	0	1	0	0	0	13459	1363	47	4		4	RIMS2	8	105160868	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	34416286	105160868	41203154	42	4371											
SLC24A2	25769	broad.mit.edu	37	chr9	19786746	19786746	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagacccatgaaaaggcctAagactcgaattaacttcagt	15	8	7	11	1	1	3	1	1	0	2	2	4	1	3	3	1	1	0	3	1	5	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:19786746A>C	uc003zoa.2	-	0	272	c.119T>G	c.(118-120)tTa>tGa	p.L40*	SLC24A2_uc003zob.2_Nonsense_Mutation_p.L40*	NM_020344	NP_065077	Q9UI40	NCKX2_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 2 (SLC24A2), transcript variant 1, mRNA.	40					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	p.V39V(1)		endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		GAAAAGGCCTAAGACTCGAAT	0.438													C	19786746	A	C	19786746	4	2	67	1	0	0	0	0	0	1	0	0	14560	372	13	5	1906	5	SLC24A2	9	19786746	Nonsense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08		19786746	121426685	43	4372											
TESK1	7016	broad.mit.edu	37	chr9	35609460	35609460	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgggctggggagccctgGaaccgggcccagcatagcct	6	5	17	13	1	0	0	0	0	0	0	0	2	0	2	4	6	4	3	4	6	2	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr9:35609460G>A	uc003zxa.3	+	9	1938	c.1602G>A	c.(1600-1602)tgG>tgA	p.W534*	TESK1_uc010mks.3_Nonsense_Mutation_p.W374*	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	534					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCCCTGGAACCGGGCCC	0.692													A	35609460	G	A	35609460	4	1	67	1	0	0	0	0	0	1	0	0	15867	1183	41	2	1640	2	TESK1	9	35609460	Nonsense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	15822714	35609460	105603971	44	4373											
ADAMTS14	140766	broad.mit.edu	37	chr10	72517795	72517795	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaacagcctcgggcattgCgagggggataggccagacac	10	4	15	12	2	0	1	0	0	0	1	1	3	0	2	3	4	3	1	3	4	2	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:72517795C>T	uc001jrg.3	+	19	3024	c.3024C>T	c.(3022-3024)tgC>tgT	p.C1008C	ADAMTS14_uc001jrh.3_Silent_p.C1005C	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	1005	TSP type-1 4.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TCGGGCATTGCGAGGGGGATA	0.667													T	72517795	C	T	72517795	2	4	67	1	0	0	0	0	0	0	0	1	259	776	27	1		1	ADAMTS14	10	72517795	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08		72517795	63016952	45	4374											
EIF3A	8661	broad.mit.edu	37	chr10	120801816	120801816	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaccccgatcatcatccaaCcctcgcctgggaccccggtc	7	6	9	19	3	2	0	2	0	0	0	5	3	3	2	7	3	1	0	7	3	1	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:120801816C>G	uc001ldu.3	-	18	3362	c.3216G>C	c.(3214-3216)ggG>ggC	p.G1072G	EIF3A_uc010qsu.2_Silent_p.G1038G|EIF3A_uc009xzg.1_Silent_p.G111G	NM_003750	NP_003741	Q14152	EIF3A_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit A (EIF3A), mRNA.	1072	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATCATCCAACCCTCGCCTGG	0.637													G	120801816	C	G	120801816	2	3	67	1	0	0	0	0	0	0	0	1	5051	494	18	4		4	EIF3A	10	120801816	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	48284021	120801816	14732931	46	4375											
DHX32	55760	broad.mit.edu	37	chr10	127527726	127527726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgagtgctgaacagttgagGaagtaatcacgacaccactt	13	9	10	9	1	1	3	1	3	0	0	1	5	1	4	1	1	2	3	1	1	3	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr10:127527726G>C	uc001ljf.1	-	8	2216	c.1725C>G	c.(1723-1725)ttC>ttG	p.F575L	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Missense_Mutation_p.F199L|DHX32_uc001ljg.1_Missense_Mutation_p.F575L|BCCIP_uc001ljc.4_Intron|BCCIP_uc010quj.2_Intron	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	575						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				AACAGTTGAGGAAGTAATCAC	0.453													C	127527726	G	C	127527726	3	2	67	1	0	0	0	0	1	0	0	0	4544	1165	41	4	518	4	DHX32	10	127527726	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	6725910	127527726	8007021	47	4376											
ELF5	2001	broad.mit.edu	37	chr11	34515184	34515184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacttgtactggtcgcagCagaactggagccactcccac	10	7	9	15	1	0	1	0	0	0	1	2	2	1	2	3	2	5	3	3	2	3	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:34515184C>T	uc001mvo.1	-	2	457	c.227G>A	c.(226-228)tGc>tAc	p.C76Y	ELF5_uc021qft.1_Intron|ELF5_uc001mvp.2_Missense_Mutation_p.C66Y|ELF5_uc009ykd.2_Intron|ELF5_uc001mvq.2_Missense_Mutation_p.C66Y	NM_198381	NP_001413	Q9UKW6	ELF5_HUMAN	Homo sapiens E74-like factor 5 (ets domain transcription factor) (ELF5), transcript variant 1, mRNA.	76	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				CTGGTCGCAGCAGAACTGGAG	0.527											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34515184	C	T	34515184	3	4	67	1	0	0	0	0	1	0	0	0	5098	710	25	2	590	2	ELF5	11	34515184	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		34515184	100491332	48	4377											
OR5D13	390142	broad.mit.edu	37	chr11	55541628	55541628	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaagtgggcgccagaaaActttctccacctgtgcctcc	8	9	9	15	1	1	1	0	0	1	1	3	1	2	1	5	1	3	1	5	1	3	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55541628A>T	uc010ril.2	+	0	715	c.715A>T	c.(715-717)Act>Tct	p.T239S		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				GCGCCAGAAAACTTTCTCCAC	0.418													T	55541628	A	T	55541628	3	4	67	1	0	0	0	0	1	0	0	0	11230	43	2	5	717	5	OR5D13	11	55541628	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	21026444	55541628	79464888	49	4378											
OR5L2	26338	broad.mit.edu	37	chr11	55594866	55594866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagctctcggctccacaccCccgtgtactttttcctcagc	5	12	6	18	2	3	0	2	0	1	0	6	0	5	0	4	1	3	3	4	1	1	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55594866C>A	uc001nhy.1	+	0	172	c.172C>A	c.(172-174)Ccc>Acc	p.P58T		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				GCTCCACACCCCCGTGTACTT	0.468										HNSCC(27;0.073)			A	55594866	C	A	55594866	3	1	67	1	0	0	0	0	1	0	0	0	11247	623	22	4	174	4	OR5L2	11	55594866	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	53238	55594866	79411650	50	4379											
OR5W2	390148	broad.mit.edu	37	chr11	55681471	55681471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacggtgaataacactaaCtcattgacctgtgtatctga	14	11	8	8	1	2	4	1	3	1	1	2	4	2	4	1	1	2	1	1	1	5	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:55681471C>G	uc010rir.2	-	0	588	c.588G>C	c.(586-588)gaG>gaC	p.E196D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						ATAACACTAACTCATTGACCT	0.383													G	55681471	C	G	55681471	3	3	67	1	0	0	0	0	1	0	0	0	11261	564	20	4	346	4	OR5W2	11	55681471	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	86605	55681471	79325045	51	4380											
OR9G9	504191	broad.mit.edu	37	chr11	56468275	56468275	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcccaggccatgtccataAagctgtgtgcattgctggta	9	11	11	10	0	0	0	0	0	0	0	1	0	1	0	3	2	4	4	3	2	3	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468275A>T	uc010rjn.2	+	0	412	c.412A>T	c.(412-414)Aag>Tag	p.K138*	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										CATGTCCATAAAGCTGTGTGC	0.493													T	56468275	A	T	56468275	4	4	67	1	0	0	0	0	0	1	0	0	11328	15	1	5	414	5	OR9G9	11	56468275	Nonsense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08	786804	56468275	78538241	52	4381											
OR9G9	504191	broad.mit.edu	37	chr11	56468515	56468515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatcctggcctcctacCtctttatcatcaccagtgtc	6	14	5	16	0	4	0	3	0	1	0	7	0	6	0	5	1	2	1	5	1	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:56468515C>A	uc010rjn.2	+	0	652	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										GGCCTCCTACCTCTTTATCAT	0.532													A	56468515	C	A	56468515	3	1	67	1	0	0	0	0	1	0	0	0	11328	681	24	4	654	4	OR9G9	11	56468515	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	240	56468515	78538001	53	4382											
HTR3B	9177	broad.mit.edu	37	chr11	113815368	113815368	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atcgtgttggtcaaattcctCcatgatgagcagcgtggtgg	8	12	13	8	2	1	2	1	2	0	0	4	2	3	2	2	3	2	2	2	3	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr11:113815368C>G	uc001pok.3	+	7	1119	c.981C>G	c.(979-981)ctC>ctG	p.L327L	HTR3B_uc001pol.3_Silent_p.L316L	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	327					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		TCAAATTCCTCCATGATGAGC	0.557													G	113815368	C	G	113815368	2	3	67	1	0	0	0	0	0	0	0	1	7503	842	30	4		4	HTR3B	11	113815368	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	57346853	113815368	21191148	54	4383											
MAP3K12	7786	broad.mit.edu	37	chr12	53875972	53875972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtagatagtgactggCgcatgttcaggctctgaggc	9	10	15	7	1	2	4	1	3	1	1	2	4	2	4	0	4	0	4	0	4	3	3	rs149876591		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:53875972C>T	uc001sdn.2	-	12	2604	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	MAP3K12_uc001sdm.2_Missense_Mutation_p.R745H	NM_001193511	NP_001180440	Q12852	M3K12_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 12 (MAP3K12), transcript variant 1, mRNA.	745					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TAGTGACTGGCGCATGTTCAG	0.512											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53875972	C	T	53875972	3	4	67	1	0	0	0	0	1	0	0	0	9321	768	27	1	353	1	MAP3K12	12	53875972	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		53875972	79975923	55	4384											
CUX2	23316	broad.mit.edu	37	chr12	111748125	111748125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccccagccttctatggCgccaagccccccacagcccc	6	6	6	23	1	1	0	0	0	1	0	2	0	2	0	10	1	3	0	10	1	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:111748125C>T	uc001tsa.2	+	14	1693	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	513	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCTTCTATGGCGCCAAGCCCC	0.741													T	111748125	C	T	111748125	2	4	67	1	0	0	0	0	0	0	0	1	4098	755	27	1		1	CUX2	12	111748125	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	57872153	111748125	22103770	56	4385											
TMEM132B	114795	broad.mit.edu	37	chr12	125834741	125834741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggagtgtggtggtctacCcaacccaagatgatctgaag	10	10	13	8	0	2	3	0	2	2	1	2	4	2	4	2	3	2	0	2	3	4	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr12:125834741C>G	uc001uhe.1	+	1	804	c.796C>G	c.(796-798)Cca>Gca	p.P266A	TMEM132B_uc021rgl.1_Missense_Mutation_p.P156A	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	266						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGTGGTCTACCCAACCCAAGA	0.577													G	125834741	C	G	125834741	3	3	67	1	0	0	0	0	1	0	0	0	16146	623	22	4	802	4	TMEM132B	12	125834741	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	14086616	125834741	8017154	57	4386											
TBC1D4	9882	broad.mit.edu	37	chr13	75933904	75933904	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgatatactttgatacataCctgagaacaagaggagatat	17	11	8	5	0	0	5	0	3	0	3	0	7	0	5	1	1	4	0	1	1	7	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr13:75933904C>T	uc001vjl.1	-	3	1517	c.1170_splice	c.e3+1	p.Q390_splice	TBC1D4_uc010aer.2_Splice_Site_p.Q390_splice|TBC1D4_uc010aes.2_Splice_Site_p.Q390_splice	NM_014832	NP_055647	O60343	TBCD4_HUMAN	Homo sapiens TBC1 domain family, member 4 (TBC1D4), mRNA.	390	PID 2.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTGATACATACCTGAGAACAA	0.313													T	75933904	C	T	75933904	5	4	67	1	0	0	0	0	0	0	1	0	15722	521	18	2	2801	2	TBC1D4	13	75933904	Splice_Site	SNP	C	TCGA-06-0877-01A-01W-0424-08		75933904	39235974	58	4387											
SERPINA1	5265	broad.mit.edu	37	chr14	94849558	94849558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcaggaggatgccccacGagacagaagacggcattgtc	12	4	13	12	2	0	3	0	0	0	3	1	6	0	5	3	3	2	2	3	3	1	1	rs140814100		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr14:94849558G>A	uc001ycy.4	-	3	571	c.17C>T	c.(16-18)tCg>tTg	p.S6L	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Missense_Mutation_p.S6L|SERPINA1_uc010auy.3_Missense_Mutation_p.S6L|SERPINA1_uc001ycz.4_Missense_Mutation_p.S6L|SERPINA1_uc010auz.3_Missense_Mutation_p.S6L|SERPINA1_uc010ava.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydb.4_Missense_Mutation_p.S6L|SERPINA1_uc010avb.3_Missense_Mutation_p.S6L|SERPINA1_uc001ydc.4_Missense_Mutation_p.S6L|SERPINA1_uc010auw.3_Missense_Mutation_p.S6L|SERPINA1_uc010aux.3_Missense_Mutation_p.S6L|SERPINA1_uc001yda.1_Missense_Mutation_p.S6L	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	6					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GATGCCCCACGAGACAGAAGA	0.612													A	94849558	G	A	94849558	3	1	67	1	0	0	0	0	1	0	0	0	14179	1059	37	1	1255	1	SERPINA1	14	94849558	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		94849558	12499982	59	4388											
SLC12A1	6557	broad.mit.edu	37	chr15	48566793	48566793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgattttgagattggcGtggttatagtcagaatcagc	10	15	11	5	1	2	3	2	2	0	2	2	4	2	3	0	2	1	1	0	2	3	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:48566793G>A	uc001zwn.4	+	19	2644	c.2428G>A	c.(2428-2430)Gtg>Atg	p.V810M	SLC12A1_uc010uew.1_Missense_Mutation_p.V616M|SLC12A1_uc010bem.3_Missense_Mutation_p.V810M|SLC12A1_uc001zwq.4_Missense_Mutation_p.V581M|SLC12A1_uc001zwr.4_Missense_Mutation_p.V537M	NM_000338	NP_000329	Q13621	S12A1_HUMAN	Homo sapiens solute carrier family 12 (sodium/potassium/chloride transporters), member 1 (SLC12A1), transcript variant 1, mRNA.	810					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TGAGATTGGCGTGGTTATAGT	0.383													A	48566793	G	A	48566793	3	1	67	1	0	0	0	0	1	0	0	0	14476	1145	40	1	2602	1	SLC12A1	15	48566793	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		48566793	53964599	60	4389											
ISLR2	57611	broad.mit.edu	37	chr15	74425374	74425374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcaccgtggagccaggCgcactggccgtgctgagtca	6	6	16	13	4	1	1	1	1	0	0	1	2	1	2	3	3	3	3	3	3	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:74425374C>T	uc002axd.3	+	3	1048	c.279C>T	c.(277-279)ggC>ggT	p.G93G	ISLR2_uc002axe.3_Silent_p.G93G|ISLR2_uc010bjg.3_Silent_p.G93G|ISLR2_uc010bjf.3_Silent_p.G93G|ISLR2_uc021sqe.1_Silent_p.G93G	NM_001130136	NP_065902	Q6UXK2	ISLR2_HUMAN	Homo sapiens immunoglobulin superfamily containing leucine-rich repeat 2 (ISLR2), transcript variant 1, mRNA.	93					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGGAGCCAGGCGCACTGGCCG	0.637													T	74425374	C	T	74425374	2	4	67	1	0	0	0	0	0	0	0	1	7917	755	27	1		1	ISLR2	15	74425374	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	25858581	74425374	28106018	61	4390											
PCSK6	5046	broad.mit.edu	37	chr15	101968175	101968175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacttctcccgcacaacGagtgccgtgtctgaaacaaa	13	7	8	13	3	2	1	0	1	2	0	3	2	2	1	2	0	5	2	2	0	4	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr15:101968175G>T	uc002bxa.2	-	6	1056	c.742C>A	c.(742-744)Cgt>Agt	p.R248S	PCSK6_uc010bpd.3_Missense_Mutation_p.R119S|PCSK6_uc002bwy.3_Missense_Mutation_p.R248S|PCSK6_uc010bpe.3_Missense_Mutation_p.R245S|PCSK6_uc002bxb.2_Missense_Mutation_p.R248S|PCSK6_uc002bxc.1_Missense_Mutation_p.R248S|PCSK6_uc002bxd.1_Missense_Mutation_p.R248S|PCSK6_uc002bxe.3_Missense_Mutation_p.R248S|PCSK6_uc002bxg.1_Missense_Mutation_p.R248S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	249	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCGCACAACGAGTGCCGTGT	0.512													T	101968175	G	T	101968175	3	4	67	1	0	0	0	0	1	0	0	0	11680	1058	37	4	2711	4	PCSK6	15	101968175	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	27542801	101968175	563217	62	4391											
UBN1	29855	broad.mit.edu	37	chr16	4909917	4909917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagaagaagaaaaaagatGacacttatgacaaggagaag	23	5	10	3	0	0	7	0	2	0	5	0	8	0	7	0	1	0	0	0	1	10	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:4909917G>A	uc002cyb.3	+	5	958	c.619G>A	c.(619-621)Gac>Aac	p.D207N	UBN1_uc010uxw.2_Missense_Mutation_p.D207N|UBN1_uc002cyc.3_Missense_Mutation_p.D207N	NM_001079514	NP_058632	Q9NPG3	UBN1_HUMAN	Homo sapiens ubinuclein 1 (UBN1), transcript variant 2, mRNA.	207	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAAAAAAGATGACACTTATGA	0.443													A	4909917	G	A	4909917	3	1	67	1	0	0	0	0	1	0	0	0	16994	1290	45	2	637	2	UBN1	16	4909917	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		4909917	85444836	63	4392											
SLC12A3	6559	broad.mit.edu	37	chr16	56928513	56928513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgcaagatccgtgtgttCgtaggcggccagattaacag	12	9	12	8	3	0	2	0	0	0	2	2	2	1	2	2	2	2	3	2	2	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:56928513C>T	uc002ekd.4	+	21	2648	c.2619C>T	c.(2617-2619)ttC>ttT	p.F873F	SLC12A3_uc010ccm.3_Silent_p.F864F|SLC12A3_uc010ccn.3_Silent_p.F872F	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	864					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCCGTGTGTTCGTAGGCGGCC	0.582													T	56928513	C	T	56928513	2	4	67	1	0	0	0	0	0	0	0	1	14478	883	31	1		1	SLC12A3	16	56928513	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	52018596	56928513	33426240	64	4393											
CPNE7	27132	broad.mit.edu	37	chr16	89656340	89656340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctttggggtttggagcccGgatccctcccaagtatgagg	6	10	14	11	2	0	1	0	1	0	0	2	3	2	3	3	5	1	3	3	5	2	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr16:89656340G>A	uc002fnp.3	+	12	1452	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	CPNE7_uc002fnq.3_Missense_Mutation_p.R366Q	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	441	VWFA.				lipid metabolic process		transporter activity	p.R441G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TTTGGAGCCCGGATCCCTCCC	0.622													A	89656340	G	A	89656340	3	1	67	1	0	0	0	0	1	0	0	0	3848	1116	39	1	1372	1	CPNE7	16	89656340	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	32727827	89656340	698413	65	4394											
TRPV2	51393	broad.mit.edu	37	chr17	16321183	16321183	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaaagggaacaggtgccagGtgagacagcaagtgggggca	13	3	18	7	1	0	1	0	1	0	1	0	4	0	2	1	5	3	2	1	5	3	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:16321183G>A	uc002gpy.3	+	2	599	c.200_splice	c.e2+1	p.S67_splice	TRPV2_uc002gpz.3_Splice_Site	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	67	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CAGGTGCCAGGTGAGACAGCA	0.617													A	16321183	G	A	16321183	5	1	67	1	0	0	0	0	0	0	1	0	16697	1275	44	2	203	2	TRPV2	17	16321183	Splice_Site	SNP	G	TCGA-06-0877-01A-01W-0424-08		16321183	64874027	66	4395											
EFCAB5	374786	broad.mit.edu	37	chr17	28434861	28434861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgatgcagatcattcccGaactgaagtatggaaatttg	12	12	9	8	1	1	3	1	2	0	1	3	5	3	4	2	1	2	2	2	1	4	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:28434861G>A	uc002het.3	+	22	4523	c.4331G>A	c.(4330-4332)cGa>cAa	p.R1444Q	EFCAB5_uc010cse.3_Missense_Mutation_p.R1199Q|EFCAB5_uc010csf.3_Missense_Mutation_p.R795Q	NM_198529	NP_940931	A4FU69	EFCB5_HUMAN	Homo sapiens EF-hand calcium binding domain 5 (EFCAB5), transcript variant 1, mRNA.	1444							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GATCATTCCCGAACTGAAGTA	0.308													A	28434861	G	A	28434861	3	1	67	1	0	0	0	0	1	0	0	0	4977	1058	37	1	4588	1	EFCAB5	17	28434861	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	12113678	28434861	52760349	67	4396											
ERBB2	2064	broad.mit.edu	37	chr17	37884124	37884124	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaccccgagtacttgacaCcccagggaggagctgcccct	10	5	11	15	1	0	2	0	1	0	1	0	5	0	4	6	2	4	2	6	2	2	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:37884124C>A	uc002hso.3	+	26	3833	c.3595C>A	c.(3595-3597)Ccc>Acc	p.P1199T	ERBB2_uc010cwa.3_Missense_Mutation_p.P1184T|ERBB2_uc002hsm.3_Missense_Mutation_p.P1169T|ERBB2_uc002hsp.3_Missense_Mutation_p.P1002T|ERBB2_uc010cwb.3_3'UTR|ERBB2_uc010wek.2_Missense_Mutation_p.P923T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	1199					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	GTACTTGACACCCCAGGGAGG	0.622		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			A	37884124	C	A	37884124	3	1	67	1	0	0	0	0	1	0	0	0	5247	507	18	4	3701	4	ERBB2	17	37884124	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	9449263	37884124	43311086	68	4397											
AOC3	8639	broad.mit.edu	37	chr17	41003669	41003669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagtggagttgcagctGcctcccaaggctgcagccct	6	10	11	14	0	1	0	1	0	1	0	3	1	2	1	3	2	5	5	3	2	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:41003669G>A	uc002ibv.3	+	0	469	c.309G>A	c.(307-309)ctG>ctA	p.L103L		NM_003734	NP_003725	Q16853	AOC3_HUMAN	Homo sapiens amine oxidase, copper containing 3 (vascular adhesion protein 1) (AOC3), mRNA.	103					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGTTGCAGCTGCCTCCCAAGG	0.672													A	41003669	G	A	41003669	2	1	67	1	0	0	0	0	0	0	0	1	730	1306	46	2		2	AOC3	17	41003669	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	3119545	41003669	40191541	69	4398											
KIF2B	84643	broad.mit.edu	37	chr17	51901522	51901522	+	Frame_Shift_Del	DEL	C	C	-																															tggaagaagaagctgcaagtCcttgaggatggcaatcagca																										TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr17:51901522delC	uc002iua.2	+	0	1284	c.1128delC	c.(1126-1128)gtcfs	p.V376fs	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	376	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGCTGCAAGTCCTTGAGGATG	0.468													-	51901522	C	-	51901522	7	5	67	1	0	1	0	1	0	0	0	0	8356	842	30	0	1130	0	KIF2B	17	51901522	Frame_Shift_Del	DEL	C	TCGA-06-0877-01A-01W-0424-08	10897853	51901522	29293688	70	4399											
GALNT1	2589	broad.mit.edu	37	chr18	33257555	33257555	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcatttgctttgtctctagGtgtaaaacaaaggtgtatcc	10	14	10	7	0	1	0	0	0	1	0	3	0	2	0	1	3	2	4	1	3	5	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:33257555G>A	uc010dmu.3	+	4	368	c.315_splice	c.e4-1	p.G105_splice	GALNT1_uc002kyz.4_Splice_Site_p.G45_splice|GALNT1_uc002kzb.3_Splice_Site_p.G105_splice	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	105					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TTGTCTCTAGGTGTAAAACAA	0.383													A	33257555	G	A	33257555	2	1	67	1	0	0	0	0	0	0	0	1	6261	1275	44	2		2	GALNT1	18	33257555	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		33257555	44819693	71	4400											
PARD6G	84552	broad.mit.edu	37	chr18	77918374	77918374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacggggcggaagtcgcgCgggaggccgatgtccaggtg	7	5	20	9	6	0	0	0	0	0	0	2	4	1	2	2	6	1	0	2	6	2	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr18:77918374C>T	uc002lny.3	-	2	577	c.411G>A	c.(409-411)ccG>ccA	p.P137P	LOC100130522_uc002lnx.2_Intron|LOC100130522_uc010xfo.2_Intron	NM_032510	NP_115899	Q9BYG4	PAR6G_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog gamma (C. elegans) (PARD6G), mRNA.	137	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		GGAAGTCGCGCGGGAGGCCGA	0.731													T	77918374	C	T	77918374	2	4	67	1	0	0	0	0	0	0	0	1	11523	755	27	1		1	PARD6G	18	77918374	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	44660819	77918374	158874	72	4401											
C3	718	broad.mit.edu	37	chr19	6680227	6680227	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggataagctctacattaaaGtattggtgaactttgaaagc	14	13	9	5	0	1	2	0	2	1	0	1	3	1	3	0	2	4	2	0	2	7	6			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6680227G>T	uc002mfm.3	-	35	4460	c.4398C>A	c.(4396-4398)taC>taA	p.Y1466*		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1466					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding	p.Y1466*(2)		breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTACATTAAAGTATTGGTGAA	0.542													T	6680227	G	T	6680227	4	4	67	1	0	0	0	0	0	1	0	0	2225	1024	36	4	617	4	C3	19	6680227	Nonsense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08		6680227	52448756	73	4402											
EMR1	2015	broad.mit.edu	37	chr19	6913826	6913826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatatcactccggctgttCggacggaatacttaggtagg	11	10	11	9	3	1	0	1	0	0	0	3	2	2	2	1	5	1	3	1	5	6	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:6913826C>T	uc002mfw.3	+	10	1323	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	EMR1_uc010dvc.3_Missense_Mutation_p.R429W|EMR1_uc010dvb.3_Missense_Mutation_p.R377W|EMR1_uc010xji.2_Missense_Mutation_p.R288W|EMR1_uc010xjj.2_Missense_Mutation_p.R252W	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	429	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TCCGGCTGTTCGGACGGAATA	0.498													T	6913826	C	T	6913826	3	4	67	1	0	0	0	0	1	0	0	0	5145	875	31	1	1327	1	EMR1	19	6913826	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	233599	6913826	52215157	74	4403											
GMIP	51291	broad.mit.edu	37	chr19	19745707	19745707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcacagccgctccacaCggacccgggacccgctgacc	7	3	11	20	4	0	1	0	1	0	0	1	3	1	3	6	3	1	3	6	3	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:19745707C>T	uc002nnd.3	-	16	1898	c.1781G>A	c.(1780-1782)cGt>cAt	p.R594H	GMIP_uc010xrb.2_Missense_Mutation_p.R568H|GMIP_uc010xrc.2_Missense_Mutation_p.R565H	NM_016573	NP_057657	Q9P107	GMIP_HUMAN	Homo sapiens GEM interacting protein (GMIP), mRNA.	594	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CCGCTCCACACGGACCCGGGA	0.592													T	19745707	C	T	19745707	3	4	67	1	0	0	0	0	1	0	0	0	6547	536	19	1	1151	1	GMIP	19	19745707	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	12831881	19745707	39383276	75	4404											
CD22	933	broad.mit.edu	37	chr19	35837554	35837554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttggggtcggggagcGgcctcaggcacaagaaaatg	10	6	16	9	2	1	1	1	0	0	1	2	2	1	2	2	6	1	2	2	6	3	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:35837554G>A	uc010edt.3	+	13	2582	c.2498G>A	c.(2497-2499)cGg>cAg	p.R833Q	CD22_uc010edu.3_Missense_Mutation_p.R745Q|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R656Q|CD22_uc010xst.2_Missense_Mutation_p.R661Q|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	833					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTCGGGGAGCGGCCTCAGGCA	0.547													A	35837554	G	A	35837554	3	1	67	1	0	0	0	0	1	0	0	0	3015	1116	39	1	2548	1	CD22	19	35837554	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	16091847	35837554	23291429	76	4405											
SIPA1L3	23094	broad.mit.edu	37	chr19	38633315	38633315	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttctccacccccggttcGgccacctacgtgagatacaa	9	8	8	16	3	1	1	0	1	1	1	3	2	1	1	5	2	3	2	5	2	3	4	rs142547881		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:38633315G>T	uc002ohk.3	+	11	4007	c.3498G>T	c.(3496-3498)tcG>tcT	p.S1166S		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1166					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			CCCCCGGTTCGGCCACCTACG	0.557											OREG0025445	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	38633315	G	T	38633315	2	4	67	1	0	0	0	0	0	0	0	1	14425	1103	39	4		4	SIPA1L3	19	38633315	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08	2795761	38633315	20495668	77	4406											
LGALS13	29124	broad.mit.edu	37	chr19	40097889	40097889	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaatggcatacgcatttaCggctttgtccatcgaatccc	9	12	8	12	3	1	0	1	0	0	0	4	1	3	0	2	2	2	3	2	2	4	4			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:40097889C>T	uc002omb.3	+	3	370	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_013268	NP_037400	Q9UHV8	PP13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 13 (LGALS13), mRNA.	110	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TACGCATTTACGGCTTTGTCC	0.463													T	40097889	C	T	40097889	2	4	67	1	0	0	0	0	0	0	0	1	8799	547	19	1		1	LGALS13	19	40097889	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	1464574	40097889	19031094	78	4407											
RUVBL2	10856	broad.mit.edu	37	chr19	49507675	49507675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaagacggccatcgccatgGgtaagaaacctcccagggca	12	4	13	12	2	0	2	0	0	0	2	2	3	1	3	4	4	1	2	4	4	3	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:49507675G>A	uc002plr.1	+	4	278	c.265_splice	c.e4+1	p.G89_splice	RUVBL2_uc010yab.2_Splice_Site_p.G89_splice|RUVBL2_uc002pls.1_Splice_Site|RUVBL2_uc010emn.1_Splice_Site_p.G44_splice	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	89					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CATCGCCATGGGTAAGAAACC	0.582													A	49507675	G	A	49507675	3	1	67	1	0	0	0	0	1	0	0	0	13844	1246	43	2	279	2	RUVBL2	19	49507675	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	9409786	49507675	9621308	79	4408											
ZNF534	147658	broad.mit.edu	37	chr19	52942496	52942496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggaattcacaccttgcgCgacataggaaaattcatact	13	10	8	10	3	2	0	2	0	0	0	3	3	2	2	1	2	2	0	1	2	5	5			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:52942496C>T	uc002pzk.3	+	3	1889	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	ZNF534_uc002pzj.1_Intron|ZNF534_uc010epo.1_Intron|ZNF534_uc002pzl.3_Nonsense_Mutation_p.R595*	NM_001143939	NP_001137411	Q76KX8	ZN534_HUMAN	Homo sapiens zinc finger protein 534 (ZNF534), transcript variant 2, mRNA.	608					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	4						ACACCTTGCGCGACATAGGAA	0.423													T	52942496	C	T	52942496	4	4	67	1	0	0	0	0	0	1	0	0	18074	760	27	1	1836	1	ZNF534	19	52942496	Nonsense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	3434821	52942496	6186487	80	4409											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701664	56701664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctgggtgactgacCgggcccgcagggcctgggga	5	6	18	12	2	1	2	0	2	1	0	1	3	1	3	4	6	0	1	4	6	0	0			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:56701664C>T	uc010ygh.2	-	3	1020	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	340					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GGTGACTGACCGGGCCCGCAG	0.542													T	56701664	C	T	56701664	2	4	67	1	0	0	0	0	0	0	0	1	18336	639	23	1		1	ZSCAN5B	19	56701664	Silent	SNP	C	TCGA-06-0877-01A-01W-0424-08	3759168	56701664	2427319	81	4410											
RPS5	6193	broad.mit.edu	37	chr19	58904370	58904370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtgaaggagaagtatGccaagtacctgcctcacagt	12	9	11	9	0	1	2	1	1	0	1	1	3	1	2	3	1	4	3	3	1	5	3			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr19:58904370G>T	uc002qsn.3	+	2	208	c.136G>T	c.(136-138)Gcc>Tcc	p.A46S		NM_001009	NP_001000	P46782	RS5_HUMAN	Homo sapiens ribosomal protein S5 (RPS5), mRNA.	46					endocrine pancreas development|regulation of translational fidelity|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|structural constituent of ribosome			cervix(1)|large_intestine(1)|lung(1)|prostate(1)	4		all_cancers(17;1.71e-22)|all_epithelial(17;1.69e-16)|Lung NSC(17;2.25e-06)|all_lung(17;9.97e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Breast(46;0.0194)|Ovarian(87;0.0443)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.171)|GBM - Glioblastoma multiforme(193;0.0323)|Lung(386;0.0543)|LUSC - Lung squamous cell carcinoma(496;0.176)		GGAGAAGTATGCCAAGTACCT	0.557													T	58904370	G	T	58904370	3	4	67	1	0	0	0	0	1	0	0	0	13739	1319	46	4	142	4	RPS5	19	58904370	Missense_Mutation	SNP	G	TCGA-06-0877-01A-01W-0424-08	2202706	58904370	224613	82	4411											
KIF16B	55614	broad.mit.edu	37	chr20	16407806	16407806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacagagcactgggaccCactcaggggtatcagagtca	12	7	11	11	0	4	2	4	0	0	2	4	3	4	3	1	3	1	2	1	3	1	2	rs76483902		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:16407806C>A	uc002wpg.2	-	14	1714	c.1555G>T	c.(1555-1557)Ggg>Tgg	p.G519W	KIF16B_uc010gch.2_Missense_Mutation_p.G519W|KIF16B_uc010gci.2_Missense_Mutation_p.G519W|KIF16B_uc010gcj.2_Missense_Mutation_p.G519W	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	519	FHA.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CACTGGGACCCACTCAGGGGT	0.428													A	16407806	C	A	16407806	3	1	67	1	0	0	0	0	1	0	0	0	8336	594	21	4	2446	4	KIF16B	20	16407806	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08		16407806	46617714	83	4412											
DIDO1	11083	broad.mit.edu	37	chr20	61542712	61542712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcatgctcctcctgcCgcggcgccgcgcaatggtca	6	6	13	16	5	1	0	1	0	0	0	3	1	3	0	4	3	2	3	4	3	1	0	rs138139875		TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr20:61542712C>T	uc002ydr.2	-	2	565	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	DIDO1_uc002yds.2_Missense_Mutation_p.G85S|DIDO1_uc002ydt.2_Missense_Mutation_p.G85S|DIDO1_uc002ydu.2_Missense_Mutation_p.G85S|DIDO1_uc002ydv.2_Missense_Mutation_p.G85S|DIDO1_uc002ydw.2_Missense_Mutation_p.G85S|DIDO1_uc002ydx.2_Missense_Mutation_p.G85S|DIDO1_uc011aao.1_Missense_Mutation_p.G85S	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	85					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCTGCCGCGGCGCCGC	0.701													T	61542712	C	T	61542712	3	4	67	1	0	0	0	0	1	0	0	0	4561	652	23	1	6655	1	DIDO1	20	61542712	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	45134906	61542712	1482808	84	4413											
COL6A1	1291	broad.mit.edu	37	chr21	47412280	47412280	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcttcatcccaggggAacccaggacctgacggtgcc	7	9	11	14	1	2	1	1	1	1	0	4	3	3	3	4	4	2	1	4	4	1	2			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr21:47412280A>T	uc002zhu.1	+	17	1342	c.1240A>T	c.(1240-1242)Aac>Tac	p.N414Y		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	414	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ATCCCAGGGGAACCCAGGACC	0.637													T	47412280	A	T	47412280	3	4	67	1	0	0	0	0	1	0	0	0	3730	246	9	5	1310	5	COL6A1	21	47412280	Missense_Mutation	SNP	A	TCGA-06-0877-01A-01W-0424-08		47412280	717615	85	4414											
HIRA	7290	broad.mit.edu	37	chr22	19318996	19318996	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtcgagctgttcctgAcactcggtgaagaggcgctg	8	9	15	9	3	0	3	0	2	0	1	3	5	1	4	1	3	1	3	1	3	1	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:19318996A>G	uc002zpf.1	-	24	3241	c.3021T>C	c.(3019-3021)tgT>tgC	p.C1007C	HIRA_uc011agx.1_Missense_Mutation_p.S844P|HIRA_uc010grn.1_Silent_p.C800C|HIRA_uc010gro.2_Silent_p.C963C	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	1007	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.C1007F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GCTGTTCCTGACACTCGGTGA	0.617													G	19318996	A	G	19318996	2	3	67	1	0	0	0	0	0	0	0	1	7175	273	10	3		3	HIRA	22	19318996	Silent	SNP	A	TCGA-06-0877-01A-01W-0424-08		19318996	31985570	86	4415											
VPREB1	7441	broad.mit.edu	37	chr22	22599423	22599423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccttggaaccacaatcCgcctcacctgcaccctgagg	8	6	9	18	2	1	1	1	1	0	0	2	2	2	2	6	3	2	1	6	3	2	1			TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chr22:22599423C>T	uc002zvx.1	+	1	138	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	abParts_uc021wml.1_Intron	NM_007128	NP_009059	P12018	VPREB_HUMAN	Homo sapiens pre-B lymphocyte 1 (VPREB1), mRNA.	38	Framework-1.|Ig-like V-type.				immune response	extracellular region	antigen binding|protein binding			large_intestine(1)|liver(1)|lung(6)|skin(1)	9	all_hematologic(9;0.0312)|Acute lymphoblastic leukemia(84;0.155)	all_cancers(3;3.14e-14)|Acute lymphoblastic leukemia(3;2.97e-57)|all_hematologic(3;5.9e-52)		READ - Rectum adenocarcinoma(21;0.145)		AACCACAATCCGCCTCACCTG	0.632													T	22599423	C	T	22599423	3	4	67	1	0	0	0	0	1	0	0	0	17288	652	23	1	118	1	VPREB1	22	22599423	Missense_Mutation	SNP	C	TCGA-06-0877-01A-01W-0424-08	3280427	22599423	28705143	87	4416											
P2RY4	5030	broad.mit.edu	37	chrX	69479145	69479145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatagaaaagaaagcggacGaacttgcagatctcagtgcc	16	6	10	9	2	1	3	1	0	1	3	2	5	1	4	1	1	4	1	1	1	6	2	rs146718292	byFrequency	TCGA-06-0877-01A-01W-0424-08	TCGA-06-0877-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dda2b842-fd8b-4d14-9aa5-3cd3abc0a0e1	623be9ba-8b29-4e70-8378-f89e54c6090a	g.chrX:69479145G>A	uc004dxz.1	-	0	510	c.330C>T	c.(328-330)ttC>ttT	p.F110F		NM_002565	NP_002556	P51582	P2RY4_HUMAN	Homo sapiens pyrimidinergic receptor P2Y, G-protein coupled, 4 (P2RY4), mRNA.	110					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GAAAGCGGACGAACTTGCAGA	0.542													A	69479145	G	A	69479145	2	1	67	1	0	0	0	0	0	0	0	1	11429	1049	37	1		1	P2RY4	23	69479145	Silent	SNP	G	TCGA-06-0877-01A-01W-0424-08		69479145	85791415	88	4417											
HSPG2	3339	broad.mit.edu	37	chr1	22206668	22206668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attgcaaccagagcaggtgcCcaggtagggcccaccaggca	11	4	13	13	0	0	1	0	0	0	1	0	1	0	1	4	4	4	4	4	4	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:22206668C>T	uc009vqd.3	-	16	2318	c.2278G>A	c.(2278-2280)Ggc>Agc	p.G760S	HSPG2_uc001bfj.3_Missense_Mutation_p.G759S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	759	Laminin EGF-like 1; second part.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAGCAGGTGCCCAGGTAGGGC	0.577													T	22206668	C	T	22206668	3	4	68	1	0	0	0	0	1	0	0	0	7488	623	22	2	11224	2	HSPG2	1	22206668	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		22206668	227043953	1	4418											
GBP5	115362	broad.mit.edu	37	chr1	89729595	89729595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggatgcttccaggttccGtttacaaatgtcattctgtt	8	15	9	9	2	2	0	1	0	1	0	4	2	4	1	2	2	2	4	2	2	2	6			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:89729595G>A	uc001dnc.3	-	8	1723	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	GBP5_uc001dnd.3_Missense_Mutation_p.R396W|GBP5_uc001dne.1_Missense_Mutation_p.R396W	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	396						plasma membrane	GTP binding|GTPase activity	p.R396Q(2)|p.R396L(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TCCAGGTTCCGTTTACAAATG	0.378													A	89729595	G	A	89729595	3	1	68	1	0	0	0	0	1	0	0	0	6331	1144	40	1	590	1	GBP5	1	89729595	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	67522927	89729595	159521026	2	4419											
AMY2B	280	broad.mit.edu	37	chr1	104122114	104122114	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaattcatgctgaatctAaattataaaatttaaaatta	18	16	3	4	0	2	1	1	1	1	0	2	1	2	1	0	0	2	2	0	0	10	8			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:104122114A>C	uc010ouo.2	+	21	3232	c.1528A>C	c.(1528-1530)Aaa>Caa	p.K510Q	AMY2B_uc001duq.3_Missense_Mutation_p.K510Q|AMY2B_uc001dur.3_Missense_Mutation_p.K510Q|AMY2B_uc001dus.1_Intron	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	510					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TGCTGAATCtaaattataaaa	0.284													C	104122114	A	C	104122114	3	2	68	1	0	0	0	0	1	0	0	0	595	363	13	5	1566	5	AMY2B	1	104122114	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	14392519	104122114	145128507	3	4420											
FCRL3	115352	broad.mit.edu	37	chr1	157667597	157667597	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactattaggaagctgtttTccatccttgtagtaaacctt	11	16	6	8	0	0	0	0	0	0	0	2	1	2	1	3	1	3	4	3	1	7	9			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:157667597T>C	uc001fqz.4	-	4	703	c.411A>G	c.(409-411)ggA>ggG	p.G137G	FCRL3_uc001fqx.4_Non-coding_Transcript|FCRL3_uc001fqy.4_Non-coding_Transcript|FCRL3_uc009wsn.3_Non-coding_Transcript|FCRL3_uc009wso.3_Non-coding_Transcript|FCRL3_uc001fra.3_5'UTR|FCRL3_uc001frb.3_Silent_p.G137G|FCRL3_uc001frc.1_Silent_p.G137G	NM_052939	NP_443171	Q96P31	FCRL3_HUMAN	Homo sapiens Fc receptor-like 3 (FCRL3), mRNA.	137	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GAAGCTGTTTTCCATCCTTGT	0.363													C	157667597	T	C	157667597	2	2	68	1	0	0	0	0	0	0	0	1	5845	1770	62	3		3	FCRL3	1	157667597	Silent	SNP	T	TCGA-06-0878-01A-01W-0424-08	53545483	157667597	91583024	4	4421											
ZNF692	55657	broad.mit.edu	37	chr1	249148230	249148230	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagacttctggtggatGtgctggtactttttgtggtg	7	15	15	4	0	1	2	0	0	1	2	1	4	1	3	0	4	2	2	0	4	2	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr1:249148230G>T	uc001ifc.2	-	9	1270	c.1059C>A	c.(1057-1059)caC>caA	p.H353Q	ZNF692_uc001iez.2_Missense_Mutation_p.H75Q|ZNF692_uc001ifb.2_Missense_Mutation_p.H149Q|ZNF692_uc010pzr.2_Missense_Mutation_p.H358Q|ZNF692_uc001iff.2_Missense_Mutation_p.H308Q	NM_017865	NP_060335	Q9BU19	ZN692_HUMAN	Homo sapiens zinc finger protein 692 (ZNF692), transcript variant 2, mRNA.	353					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCTGGTGGATGTGCTGGTACT	0.512													T	249148230	G	T	249148230	3	4	68	1	0	0	0	0	1	0	0	0	18198	1368	48	4	512	4	ZNF692	1	249148230	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	91480633	249148230	102391	5	4422											
ALLC	55821	broad.mit.edu	37	chr2	3743415	3743415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcttttgggggtgtctGtgtaggatttagtaatgcta	7	16	13	5	1	1	0	0	0	1	0	2	1	1	1	0	3	1	4	0	3	4	7			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:3743415G>T	uc010ewt.3	+	7	781	c.620G>T	c.(619-621)tGt>tTt	p.C207F	ALLC_uc002qyf.3_5'UTR	NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	226							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGGGTGTCTGTGTAGGATTT	0.448										HNSCC(21;0.051)			T	3743415	G	T	3743415	3	4	68	1	0	0	0	0	1	0	0	0	534	1377	48	4	646	4	ALLC	2	3743415	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		3743415	239455958	6	4423											
TMEM182	130827	broad.mit.edu	37	chr2	103379127	103379133	+	Frame_Shift_Del	DEL	ATTTGGA	ATTTGGA	-																															tggaagagaatgactccaatAtttggaagttctggtacagt																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:103379127_103379133delATTTGGA	uc010fjb.3	+	1	401_407	c.214_220delATTTGGA	c.(214-222)atttggaagfs	p.I72fs	TMEM182_uc002tcc.4_Frame_Shift_Del_p.I29fs|TMEM182_uc002tcd.4_5'UTR	NM_144632	NP_653233	Q6ZP80	TM182_HUMAN	Homo sapiens transmembrane protein 182 (TMEM182), mRNA.	72						integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGACTCCAATATTTGGAAGTTCTGGTA	0.362													-	103379133	ATTTGGA	-	103379127	7	5	68	1	0	1	0	1	0	0	0	0	16201	449	16	0	220	0	TMEM182	2	103379127	Frame_Shift_Del	DEL	ATTTGGA	TCGA-06-0878-01A-01W-0424-08	99635712	103379127	139820246	7	4424											
ITGB6	3694	broad.mit.edu	37	chr2	161025770	161025770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcgaagatcaataacaCgttgttttgtaccagtttat	13	14	7	7	2	1	1	1	0	0	1	1	2	1	1	1	0	4	4	1	0	6	8			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:161025770C>T	uc002ubh.2	-	6	985	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	ITGB6_uc010fow.1_Non-coding_Transcript|ITGB6_uc010fou.2_Missense_Mutation_p.V324M|ITGB6_uc010zcq.1_Missense_Mutation_p.V282M|ITGB6_uc010fov.1_Missense_Mutation_p.V324M	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	324	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ATCAATAACACGTTGTTTTGT	0.294													T	161025770	C	T	161025770	3	4	68	1	0	0	0	0	1	0	0	0	7957	536	19	1	1432	1	ITGB6	2	161025770	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	57646643	161025770	82173603	8	4425											
DNAH7	56171	broad.mit.edu	37	chr2	196865488	196865488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagctttaatcatgacGtcataaacatttagaaagat	16	12	6	7	1	2	4	2	2	0	2	2	4	2	4	0	0	2	1	0	0	5	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:196865488G>A	uc002utj.4	-	11	1394	c.1293C>T	c.(1291-1293)gaC>gaT	p.D431D		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	431	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAATCATGACGTCATAAACAT	0.338													A	196865488	G	A	196865488	2	1	68	1	0	0	0	0	0	0	0	1	4645	1136	40	1		1	DNAH7	2	196865488	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	35839718	196865488	46333885	9	4426											
IRS1	3667	broad.mit.edu	37	chr2	227660808	227660810	+	In_Frame_Del	DEL	GCT	GCT	-																															ctctggagggtgcagcaaggGctgctgctgctgctgctgct																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr2:227660808_227660810delGCT	uc021vxn.1	-	0	2645_2647	c.2645_2647delAGC	c.(2644-2649)cagccc>ccc	p.Q882del	IRS1_uc002voh.4_In_Frame_Del_p.Q882del	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	882	Poly-Gln.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGCAGCAAGGgctgctgctgctg	0.626													-	227660810	GCT	-	227660808	7	5	68	1	0	1	0	1	0	0	0	0	7898	1203	42	0	1085	0	IRS1	2	227660808	In_Frame_Del	DEL	GCT	TCGA-06-0878-01A-01W-0424-08	30795320	227660808	15538565	10	4427											
FBLN2	2199	broad.mit.edu	37	chr3	13672223	13672223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgagtgtgaggcccagcGctgcagccaggagtgtgcca	9	6	16	10	1	0	2	0	2	0	0	0	4	0	3	3	2	4	2	3	2	1	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:13672223G>A	uc011avc.2	+	14	3375	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	FBLN2_uc011auz.2_Missense_Mutation_p.R977H|FBLN2_uc011avb.2_Missense_Mutation_p.R951H|FBLN2_uc011ava.2_Missense_Mutation_p.R998H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	990	EGF-like 9; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GAGGCCCAGCGCTGCAGCCAG	0.607													A	13672223	G	A	13672223	3	1	68	1	0	0	0	0	1	0	0	0	5748	1087	38	1	1737	1	FBLN2	3	13672223	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		13672223	184350207	11	4428											
ATP11B	23200	broad.mit.edu	37	chr3	182585181	182585181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggattggtattgtgtttaTtggcaattctgaagaaacta	12	16	10	3	0	1	2	0	1	1	1	1	3	1	3	0	3	1	3	0	3	7	9			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr3:182585181T>C	uc003flb.3	+	14	1894	c.1637T>C	c.(1636-1638)aTt>aCt	p.I546T	ATP11B_uc003flc.3_Missense_Mutation_p.I130T	NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	546					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ATTGTGTTTATTGGCAATTCT	0.294													C	182585181	T	C	182585181	3	2	68	1	0	0	0	0	1	0	0	0	1125	1493	52	3	1695	3	ATP11B	3	182585181	Missense_Mutation	SNP	T	TCGA-06-0878-01A-01W-0424-08	168912958	182585181	15437249	12	4429											
CTBP1	1487	broad.mit.edu	37	chr4	1206064	1206064	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtctctatccgcctcGggcttgacggtttggccagg	3	11	15	12	4	1	1	0	1	1	0	4	1	2	1	3	5	0	2	3	5	1	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:1206064G>C	uc003gcw.3	-	8	1455	c.1290C>G	c.(1288-1290)ccC>ccG	p.P430P	AX747592_uc003gcs.1_Non-coding_Transcript|CTBP1_uc003gcu.1_Silent_p.P418P|CTBP1_uc003gcv.1_Silent_p.P429P	NM_001328	NP_001319	Q13363	CTBP1_HUMAN	Homo sapiens C-terminal binding protein 1 (CTBP1), transcript variant 1, mRNA.	429					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TATCCGCCTCGGGCTTGACGG	0.692													C	1206064	G	C	1206064	2	2	68	1	0	0	0	0	0	0	0	1	4030	1103	39	4		4	CTBP1	4	1206064	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08		1206064	189948212	13	4430											
CLNK	116449	broad.mit.edu	37	chr4	10515205	10515205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgaggagaacagggctgCatgcctcctctatgatctgg	8	10	12	11	0	3	3	0	2	3	1	4	4	4	3	2	3	3	2	2	3	2	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:10515205C>A	uc003gmo.4	-	15	926	c.789G>T	c.(787-789)atG>atT	p.M263I		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	263					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						AACAGGGCTGCATGCCTCCTC	0.502													A	10515205	C	A	10515205	3	1	68	1	0	0	0	0	1	0	0	0	3578	710	25	4	513	4	CLNK	4	10515205	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	9309141	10515205	180639071	14	4431											
DCHS2	54798	broad.mit.edu	37	chr4	155252747	155252747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtcaccttctcctaattCacagaacagagacttgagaa	15	9	7	10	0	3	3	2	1	1	3	4	5	3	3	2	1	1	0	2	1	4	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr4:155252747C>T	uc003inw.2	-	9	2353	c.2353G>A	c.(2353-2355)Gaa>Aaa	p.E785K	DCHS2_uc003inx.2_Intron	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	785	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		tctcctaattcacagaaCAGA	0.483													T	155252747	C	T	155252747	3	4	68	1	0	0	0	0	1	0	0	0	4322	835	29	2	6557	2	DCHS2	4	155252747	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	144737542	155252747	35901529	15	4432											
CTNND2	1501	broad.mit.edu	37	chr5	11022883	11022883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcaccaggtaacttacttAtctcctttgcttttggagat	8	16	7	10	1	2	1	1	0	1	1	3	2	2	1	2	2	3	2	2	2	3	6			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:11022883A>C	uc003jfa.1	-	16	3142	c.2997T>G	c.(2995-2997)gaT>gaG	p.D999E	CTNND2_uc010itt.2_Missense_Mutation_p.D908E|CTNND2_uc011cmy.1_Missense_Mutation_p.D662E|CTNND2_uc011cmz.1_Missense_Mutation_p.D566E|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.D591E	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	999					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TAACTTACTTATCTCCTTTGC	0.488													C	11022883	A	C	11022883	3	2	68	1	0	0	0	0	1	0	0	0	4053	446	16	5	704	5	CTNND2	5	11022883	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08		11022883	169892377	16	4433											
PCDHAC2	56140	broad.mit.edu	37	chr5	140222517	140222517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgcgggcgtgccgcc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	0	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:140222517G>A	uc003lhs.2	+	0	1611	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Silent_p.A537A	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.667													A	140222517	G	A	140222517	2	1	68	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140222517	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	129199634	140222517	40692743	17	4434											
DOCK2	1794	broad.mit.edu	37	chr5	169122848	169122848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggataaaatttacttGatttgtcaaatagtccgggt	14	13	9	5	1	1	1	1	1	0	0	2	2	2	2	1	2	2	0	1	2	6	6			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr5:169122848G>T	uc003maf.3	+	9	965	c.885G>T	c.(883-885)ttG>ttT	p.L295F	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	295					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAATTTACTTGATTTGTCAAA	0.463													T	169122848	G	T	169122848	3	4	68	1	0	0	0	0	1	0	0	0	4726	1281	45	4	923	4	DOCK2	5	169122848	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	28900331	169122848	11792412	18	4435											
HCRTR2	3062	broad.mit.edu	37	chr6	55142306	55142306	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaataaagcagatccgAgccagaaggaaaacagcccg	17	3	11	10	2	0	3	0	1	0	2	1	5	1	4	3	1	4	2	3	1	6	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr6:55142306A>G	uc003pcl.3	+	4	1206	c.891A>G	c.(889-891)cgA>cgG	p.R297R	HCRTR2_uc010jzv.3_Non-coding_Transcript	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	297					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGCAGATCCGAGCCAGAAGGA	0.493													G	55142306	A	G	55142306	2	3	68	1	0	0	0	0	0	0	0	1	7057	291	11	3		3	HCRTR2	6	55142306	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08		55142306	115972761	19	4436											
GHRHR	2692	broad.mit.edu	37	chr7	31016925	31016925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgccatcctctactgcttCctcaaccaagaggtgtgtga	8	12	9	12	0	2	2	1	1	1	1	4	2	4	2	4	1	4	2	4	1	3	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:31016925C>T	uc003tbx.3	+	11	1182	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	GHRHR_uc003tby.3_Silent_p.F314F|GHRHR_uc003tbz.3_Missense_Mutation_p.P145S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	378					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	TCTACTGCTTCCTCAACCAAG	0.552													T	31016925	C	T	31016925	2	4	68	1	0	0	0	0	0	0	0	1	6429	854	30	2		2	GHRHR	7	31016925	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08		31016925	128121738	20	4437											
EGFR	1956	broad.mit.edu	37	chr7	55221781	55221781	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctacaaccccaccacgtaCcagatggatgtgaaccccga	12	6	7	16	2	1	2	0	1	1	1	1	4	1	3	6	1	4	1	6	1	4	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221781C>T	uc003tqk.3	+	6	1071	c.825C>T	c.(823-825)taC>taT	p.Y275Y	EGFR_uc003tqh.3_Silent_p.Y275Y|EGFR_uc003tqi.3_Silent_p.Y275Y|EGFR_uc003tqj.3_Silent_p.Y275Y|EGFR_uc022adm.1_Silent_p.Y275Y|EGFR_uc010kzg.2_Silent_p.Y230Y|EGFR_uc022adn.1_Silent_p.Y230Y|EGFR_uc011kco.2_Silent_p.Y222Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	275					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCACCACGTACCAGATGGATG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221781	C	T	55221781	2	4	68	1	0	0	0	0	0	0	0	1	5006	518	18	2		2	EGFR	7	55221781	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	24204856	55221781	103916882	21	4438			1	12		3	3	41	N	GC_C	2.833128e-09
EGFR	1956	broad.mit.edu	37	chr7	55221796	55221796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgtaccagatggatgtgaaCcccgagggcaaatacagctt	13	7	11	10	2	0	2	0	1	0	1	0	4	0	3	3	2	4	3	3	2	4	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221796C>T	uc003tqk.3	+	6	1086	c.840C>T	c.(838-840)aaC>aaT	p.N280N	EGFR_uc003tqh.3_Silent_p.N280N|EGFR_uc003tqi.3_Silent_p.N280N|EGFR_uc003tqj.3_Silent_p.N280N|EGFR_uc022adm.1_Silent_p.N280N|EGFR_uc010kzg.2_Silent_p.N235N|EGFR_uc022adn.1_Silent_p.N235N|EGFR_uc011kco.2_Silent_p.N227N|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	280					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGATGTGAACCCCGAGGGCA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221796	C	T	55221796	2	4	68	1	0	0	0	0	0	0	0	1	5006	506	18	2		2	EGFR	7	55221796	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	15	55221796	103916867	22	4439			1	12		3	3	41	N	GC_C	2.833128e-09
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221822	+	Missense_Mutation	DNP	GC	GC	AT																															agggcaaatacagctttggtGccacctgcgtgaagaagtgt																								rs149840192		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:55221821_55221822GC>AT	uc003tqk.3	+	6	1111_1112	c.865_866GC>AT	c.(865-867)gcc>ATc	p.A289I	EGFR_uc003tqh.3_Missense_Mutation_p.A289I|EGFR_uc003tqi.3_Missense_Mutation_p.A289I|EGFR_uc003tqj.3_Missense_Mutation_p.A289I|EGFR_uc022adm.1_Missense_Mutation_p.A289I|EGFR_uc010kzg.2_Missense_Mutation_p.A244I|EGFR_uc022adn.1_Missense_Mutation_p.A244I|EGFR_uc011kco.2_Missense_Mutation_p.A236I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289T(6)|p.A289D(6)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGTG	0.589		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			AT	55221822	GC	AT	55221821	3	1	68	1	0	0	0	0	1	0	0	0	5006	1319	46	2	891	2	EGFR	7	55221821	Missense_Mutation	DNP	GC	TCGA-06-0878-01A-01W-0424-08	25	55221821	103916842	23	4440			1	12		3	3	41	N	GC_C	2.833128e-09
SEMA3E	9723	broad.mit.edu	37	chr7	82997221	82997221	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcttccactacctccAaggtgattttacggaccgta	8	13	6	14	2	2	1	0	1	2	0	5	2	4	2	5	2	2	1	5	2	4	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:82997221A>C	uc003uhy.2	-	16	2630	c.2009T>G	c.(2008-2010)tTg>tGg	p.L670W	SEMA3E_uc022agy.1_Missense_Mutation_p.L610W	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	670					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				CACTACCTCCAAGGTGATTTT	0.468													C	82997221	A	C	82997221	3	2	68	1	0	0	0	0	1	0	0	0	14121	131	5	5	322	5	SEMA3E	7	82997221	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	27775400	82997221	76141442	24	4441											
ZAN	7455	broad.mit.edu	37	chr7	100350611	100350611	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcaccatccccacagaaaaAcccaccatctccacggaaaa	16	4	3	18	1	2	1	1	0	1	1	4	2	3	2	6	1	1	0	6	1	4	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:100350611A>G	uc003uwj.3	+	13	3048	c.2883A>G	c.(2881-2883)aaA>aaG	p.K961K	ZAN_uc003uwk.3_Silent_p.K961K|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	961	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCACAGAAAAACCCACCATCT	0.512													G	100350611	A	G	100350611	2	3	68	1	0	0	0	0	0	0	0	1	17615	40	2	3		3	ZAN	7	100350611	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08	17353390	100350611	58788052	25	4442											
LAMB4	22798	broad.mit.edu	37	chr7	107706946	107706946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagtagcctgccaggcagCgatcacagcggcggccagac	11	3	13	14	3	1	1	1	0	0	1	1	2	1	1	3	3	4	2	3	3	2	1	rs148837121		TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:107706946C>T	uc010ljo.1	-	19	2630	c.2546G>A	c.(2545-2547)cGc>cAc	p.R849H	LAMB4_uc003vey.2_Missense_Mutation_p.R849H|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	849	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TGCCAGGCAGCGATCACAGCG	0.532													T	107706946	C	T	107706946	3	4	68	1	0	0	0	0	1	0	0	0	8672	768	27	1	2799	1	LAMB4	7	107706946	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	7356335	107706946	51431717	26	4443											
MLL3	58508	broad.mit.edu	37	chr7	151892993	151892993	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtattcatatataccTgaatgatcaactgattttgc	15	14	5	7	0	2	3	2	3	0	0	2	3	2	3	1	0	4	1	1	0	7	7			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr7:151892993T>C	uc003wla.3	-	28	4597	c.4378_splice	c.e28+1	p.D1460_splice	MLL3_uc003wkz.3_Splice_Site_p.D521_splice	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1460					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CATATATACCTGAATGATCAA	0.363			N		medulloblastoma								C	151892993	T	C	151892993	2	2	68	1	0	0	0	0	0	0	0	1	9697	1594	55	3		3	MLL3	7	151892993	Silent	SNP	T	TCGA-06-0878-01A-01W-0424-08	44186047	151892993	7245670	27	4444											
PREX2	80243	broad.mit.edu	37	chr8	69104577	69104577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttctgcagctaatgaGgcctctcaacgctttggatg	7	16	9	9	1	2	1	1	1	2	0	3	2	2	2	1	2	3	3	1	2	2	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr8:69104577G>A	uc003xxv.1	+	36	4448	c.4421G>A	c.(4420-4422)aGg>aAg	p.R1474K		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1474					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CAGCTAATGAGGCCTCTCAAC	0.413													A	69104577	G	A	69104577	3	1	68	1	0	0	0	0	1	0	0	0	12563	1000	35	2	4796	2	PREX2	8	69104577	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		69104577	77259445	28	4445											
LPAR1	1902	broad.mit.edu	37	chr9	113704320	113704320	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgatgaagatacaaacAgtgattccaagtcccatcac	17	8	6	10	0	1	4	1	3	0	1	3	4	3	4	2	0	3	0	2	0	5	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:113704320A>C	uc011lwo.2	-	1	179	c.177T>G	c.(175-177)acT>acG	p.T59T	LPAR1_uc004bfa.3_Silent_p.T58T|LPAR1_uc011lwm.2_Silent_p.T59T|LPAR1_uc004bfc.3_Silent_p.T58T|LPAR1_uc011lwn.2_Silent_p.T40T|LPAR1_uc004bfb.3_Silent_p.T58T|LPAR1_uc010mub.3_Silent_p.T58T	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	58					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGATACAAACAGTGATTCCAA	0.438													C	113704320	A	C	113704320	2	2	68	1	0	0	0	0	0	0	0	1	8974	175	7	5		5	LPAR1	9	113704320	Silent	SNP	A	TCGA-06-0878-01A-01W-0424-08		113704320	27509111	29	4446											
TRAF1	7185	broad.mit.edu	37	chr9	123675735	123675735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctcaaacacacgcagcttCccctccagctcagccagaag	11	7	6	17	1	2	1	2	0	1	1	5	1	4	1	4	0	4	3	4	0	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:123675735C>T	uc004bku.2	-	4	1148	c.576G>A	c.(574-576)ggG>ggA	p.G192G	TRAF1_uc011lyg.2_Silent_p.G70G|TRAF1_uc010mvl.2_Silent_p.G192G	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	192					apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.G192G(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						CACGCAGCTTCCCCTCCAGCT	0.612													T	123675735	C	T	123675735	2	4	68	1	0	0	0	0	0	0	0	1	16538	842	30	2		2	TRAF1	9	123675735	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	9971415	123675735	17537696	30	4447											
GOLGA1	2800	broad.mit.edu	37	chr9	127670739	127670739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatcctccaaattctgctCagcaagtgttttctgtaagt	9	15	8	9	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	4	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:127670739C>T	uc004bpc.3	-	11	1324	c.982G>A	c.(982-984)Gag>Aag	p.E328K	GOLGA1_uc010mws.3_Non-coding_Transcript	NM_002077	NP_002068	Q92805	GOGA1_HUMAN	Homo sapiens golgin A1 (GOLGA1), mRNA.	328						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						AAATTCTGCTCAGCAAGTGTT	0.418													T	127670739	C	T	127670739	3	4	68	1	0	0	0	0	1	0	0	0	6607	835	29	2	1369	2	GOLGA1	9	127670739	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	3995004	127670739	13542692	31	4448											
KCNT1	57582	broad.mit.edu	37	chr9	138667205	138667205	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctacatcggcagctccccaAccctgtgccacctcctgcct	6	8	6	21	1	0	0	0	0	0	0	3	0	2	0	8	1	5	2	8	1	2	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr9:138667205A>C	uc011mdq.2	+	19	2367	c.2293A>C	c.(2293-2295)Acc>Ccc	p.T765P	KCNT1_uc011mdr.2_Missense_Mutation_p.T592P|KCNT1_uc010nbf.3_Missense_Mutation_p.T720P|KCNT1_uc004cgo.1_Missense_Mutation_p.T514P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	765						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CAGCTCCCCAACCCTGTGCCA	0.662													C	138667205	A	C	138667205	3	2	68	1	0	0	0	0	1	0	0	0	8149	43	2	5	2371	5	KCNT1	9	138667205	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	10996466	138667205	2546226	32	4449											
COL17A1	1308	broad.mit.edu	37	chr10	105823552	105823552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagtgggtgagcaggacGccatgttgtttggaactccg	9	9	15	8	2	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr10:105823552G>A	uc001kxr.3	-	10	960	c.791C>T	c.(790-792)gCg>gTg	p.A264V	COL17A1_uc010qqv.1_Missense_Mutation_p.A248V|COL17A1_uc009xxp.1_Missense_Mutation_p.A264V	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	264	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.A264A(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGAGCAGGACGCCATGTTGTT	0.517													A	105823552	G	A	105823552	3	1	68	1	0	0	0	0	1	0	0	0	3705	1087	38	1	3886	1	COL17A1	10	105823552	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		105823552	29711195	33	4450											
OR8H2	390151	broad.mit.edu	37	chr11	55873034	55873034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcatttctacgactcaaaCgtaattcatcactttttctg	10	17	4	10	2	5	0	3	0	2	0	5	1	5	0	0	0	3	2	0	0	3	7			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:55873034C>T	uc010riy.2	+	0	516	c.516C>T	c.(514-516)aaC>aaT	p.N172N		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ACGACTCAAACGTAATTCATC	0.428										HNSCC(53;0.14)			T	55873034	C	T	55873034	2	4	68	1	0	0	0	0	0	0	0	1	11314	535	19	1		1	OR8H2	11	55873034	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08		55873034	79133482	34	4451											
SUV420H1	51111	broad.mit.edu	37	chr11	67941367	67941370	+	Frame_Shift_Del	DEL	AAAT	AAAT	-																															tgtcagttgcaaacattcgcAaataaataaatacctaaaac																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr11:67941367_67941370delAAAT	uc001onm.1	-	5	810_813	c.554_557delATTT	c.(553-558)tatttgfs	p.Y185fs	SUV420H1_uc009yse.1_5'UTR|SUV420H1_uc001onn.1_Frame_Shift_Del_p.Y13fs|SUV420H1_uc009ysf.2_5'UTR|SUV420H1_uc001ono.1_Frame_Shift_Del_p.Y185fs|SUV420H1_uc010rqa.1_Frame_Shift_Del_p.Y162fs	NM_017635	NP_060105	Q4FZB7	SV421_HUMAN	Homo sapiens suppressor of variegation 4-20 homolog 1 (Drosophila) (SUV420H1), transcript variant 1, mRNA.	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						AAACATTCGCAAATAAATAAATAC	0.319													-	67941370	AAAT	-	67941367	7	5	68	1	0	1	0	1	0	0	0	0	15510	131	5	0	2132	0	SUV420H1	11	67941367	Frame_Shift_Del	DEL	AAAT	TCGA-06-0878-01A-01W-0424-08	12068333	67941367	67065149	35	4452											
ADAMTS20	80070	broad.mit.edu	37	chr12	43770043	43770043	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgttttcataatacctttAttattcttcccttaatgtta	10	21	2	8	0	2	0	1	0	1	0	3	0	3	0	2	0	1	2	2	0	6	11			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:43770043A>T	uc010skx.2	-	33	5216	c.5216T>A	c.(5215-5217)aTa>aAa	p.I1739K		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1739	GON.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TAATACCTTTATTATTCTTCC	0.274													T	43770043	A	T	43770043	3	4	68	1	0	0	0	0	1	0	0	0	266	449	16	5	539	5	ADAMTS20	12	43770043	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08		43770043	90081852	36	4453											
NCKAP1L	3071	broad.mit.edu	37	chr12	54913072	54913072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccgaatgctggactcCgtagaaaaattgctggtgga	11	9	11	10	2	0	1	0	0	0	1	2	4	2	3	2	3	2	3	2	3	4	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:54913072C>T	uc001sgc.4	+	15	1660	c.1581C>T	c.(1579-1581)tcC>tcT	p.S527S	NCKAP1L_uc010sox.2_Silent_p.S69S|NCKAP1L_uc010soy.2_Silent_p.S477S	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	527					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TGCTGGACTCCGTAGAAAAAT	0.438													T	54913072	C	T	54913072	2	4	68	1	0	0	0	0	0	0	0	1	10298	639	23	1		1	NCKAP1L	12	54913072	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	11143029	54913072	78938823	37	4454											
PPFIA2	8499	broad.mit.edu	37	chr12	81688794	81688794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggctgccacgtaccaCgcaggcattcccaaccaaag	11	4	10	16	3	0	0	0	0	0	0	1	0	1	0	4	3	3	5	4	3	3	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:81688794C>T	uc001szo.2	-	23	2906	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	PPFIA2_uc010sug.2_Non-coding_Transcript|PPFIA2_uc021rbg.1_Silent_p.A841A|PPFIA2_uc021rbh.1_Silent_p.A816A|PPFIA2_uc021rbi.1_Silent_p.A915A|PPFIA2_uc021rbj.1_Silent_p.A915A|PPFIA2_uc021rbk.1_Silent_p.A900A|PPFIA2_uc021rbl.1_Silent_p.A915A|PPFIA2_uc010sue.2_Intron|PPFIA2_uc021rbe.1_Silent_p.A482A|PPFIA2_uc021rbf.1_Silent_p.A132A	NM_003625	NP_003616	B7Z663	B7Z663_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2 (PPFIA2), transcript variant 1, mRNA.	841										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCACGTACCACGCAGGCATTC	0.403													T	81688794	C	T	81688794	2	4	68	1	0	0	0	0	0	0	0	1	12387	523	19	1		1	PPFIA2	12	81688794	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	26775722	81688794	52163101	38	4455											
MYO1H	283446	broad.mit.edu	37	chr12	109843786	109843786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattggttttgaagaagaCgaccaaggctgtgccactat	13	10	10	8	1	0	3	0	1	0	2	0	4	0	3	2	2	2	2	2	2	5	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:109843786C>T	uc010sxn.1	+	6	861	c.861C>T	c.(859-861)gaC>gaT	p.D287D		NM_001101421	NP_001094891	B4DNW6	B4DNW6_HUMAN	Homo sapiens myosin IH (MYO1H), mRNA.	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TTGAAGAAGACGACCAAGGCT	0.498													T	109843786	C	T	109843786	2	4	68	1	0	0	0	0	0	0	0	1	10151	535	19	1		1	MYO1H	12	109843786	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	28154992	109843786	24008109	39	4456											
C12orf51	283450	broad.mit.edu	37	chr12	112703783	112703783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagagtccactgtttctCtctcctaacacagaagaaag	12	10	9	10	0	2	3	0	0	2	3	5	4	3	3	2	1	1	1	2	1	3	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr12:112703783C>T	uc021reb.1	-	14	2361	c.1965G>A	c.(1963-1965)gaG>gaA	p.E655E	C12orf51_uc010syk.1_Silent_p.E190E|C12orf51_uc001tts.2_Silent_p.E190E|C12orf51_uc001ttt.3_Silent_p.E190E	NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						CACTGTTTCTCTCTCCTAACA	0.418													T	112703783	C	T	112703783	2	4	68	1	0	0	0	0	0	0	0	1	1709	912	32	2		2	C12orf51	12	112703783	Silent	SNP	C	TCGA-06-0878-01A-01W-0424-08	2859997	112703783	21148112	40	4457											
ATP8B4	79895	broad.mit.edu	37	chr15	50254197	50254197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttatttctgtcttctgatCcaggtcatcatgtacttcac	8	17	6	10	0	6	1	3	1	3	0	7	1	7	1	1	1	1	2	1	1	2	5			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr15:50254197C>A	uc001zxu.3	-	13	1406	c.1264G>T	c.(1264-1266)Gat>Tat	p.D422Y	ATP8B4_uc010ber.3_Missense_Mutation_p.D295Y|ATP8B4_uc010ufd.2_Missense_Mutation_p.D295Y|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	422					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GTCTTCTGATCCAGGTCATCA	0.264													A	50254197	C	A	50254197	3	1	68	1	0	0	0	0	1	0	0	0	1202	855	30	4	2374	4	ATP8B4	15	50254197	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		50254197	52277195	41	4458											
ITFG3	83986	broad.mit.edu	37	chr16	315011	315012	+	Frame_Shift_Del	DEL	GT	GT	-																															ctcccggctgcggtaccagaGtgaggcgtagaggcacgcca																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:315011_315012delGT	uc002cgf.3	+	12	1844_1845	c.1649_1650delGT	c.(1648-1650)agtfs	p.S550fs	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Frame_Shift_Del_p.S550fs	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	550						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				CGGTACCAGAGTGAGGCGTAGA	0.649													-	315012	GT	-	315011	7	5	68	1	0	1	0	1	0	0	0	0	7929	1029	36	0	1691	0	ITFG3	16	315011	Frame_Shift_Del	DEL	GT	TCGA-06-0878-01A-01W-0424-08		315011	90039742	42	4459											
UMOD	7369	broad.mit.edu	37	chr16	20357449	20357449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactggccaggacgtaccGtcaacactgtcccacagggg	9	5	11	16	2	1	0	1	0	0	0	2	1	2	1	4	4	2	1	4	4	2	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:20357449G>A	uc002dhb.3	-	6	1410	c.1281_splice	c.e6+1	p.T427_splice	UMOD_uc002dgz.3_Splice_Site_p.T394_splice|UMOD_uc002dha.3_Splice_Site_p.T394_splice	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	394	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding	p.T394M(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						AGGACGTACCGTCAACACTGT	0.567													A	20357449	G	A	20357449	3	1	68	1	0	0	0	0	1	0	0	0	17081	1159	40	1	769	1	UMOD	16	20357449	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	20042438	20357449	69997304	43	4460											
NOD2	64127	broad.mit.edu	37	chr16	50731207	50731209	+	In_Frame_Del	DEL	TCC	TCC	-																															tgaggaggaaagagcaagtgTcctcctcggacattctccgg																										TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:50731207_50731209delTCC	uc002egm.1	+	0	158_160	c.53_55delTCC	c.(52-57)gtcctc>gtc	p.L20del	NOD2_uc010cbj.1_Intron|NOD2_uc021tia.1_Intron|NOD2_uc010cbk.1_Intron|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	20					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				AGAGCAAGTGTCCTCCTCGGACA	0.601													-	50731209	TCC	-	50731207	7	5	68	1	0	1	0	1	0	0	0	0	10593	1667	58	0	55	0	NOD2	16	50731207	In_Frame_Del	DEL	TCC	TCGA-06-0878-01A-01W-0424-08	30373758	50731207	39623546	44	4461											
ATP2C2	9914	broad.mit.edu	37	chr16	84472802	84472802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccattccagagggtctGcccatcgtcgtcatggtgac	6	9	13	13	3	2	2	1	1	1	1	5	2	3	2	3	3	1	0	3	3	0	1			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr16:84472802G>A	uc010chj.3	+	11	1106	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	ATP2C2_uc002fhx.3_Silent_p.L339L|ATP2C2_uc002fhy.3_Silent_p.L356L|ATP2C2_uc002fhz.3_Silent_p.L188L	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	339					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CAGAGGGTCTGCCCATCGTCG	0.572													A	84472802	G	A	84472802	2	1	68	1	0	0	0	0	0	0	0	1	1149	1306	46	2		2	ATP2C2	16	84472802	Silent	SNP	G	TCGA-06-0878-01A-01W-0424-08	33741595	84472802	5881951	45	4462											
FCGBP	8857	broad.mit.edu	37	chr19	40395919	40395919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacgttctcctgcaggacgGcaaaccgatgtaggccaggc	9	6	12	14	3	1	0	0	0	1	0	2	2	1	1	4	4	2	4	4	4	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:40395919G>A	uc002omp.4	-	14	7486	c.7478C>T	c.(7477-7479)gCc>gTc	p.A2493V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2493	VWFD 6.					extracellular region	protein binding	p.A2493V(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGCAGGACGGCAAACCGATG	0.627													A	40395919	G	A	40395919	3	1	68	1	0	0	0	0	1	0	0	0	5827	1203	42	2	8827	2	FCGBP	19	40395919	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		40395919	18733064	46	4463											
RAB4B	53916	broad.mit.edu	37	chr19	41292794	41292794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctctggcattcagtacGgggatgcgtccctccgccag	5	9	14	13	3	2	0	1	0	1	0	4	1	4	1	3	4	2	3	3	4	1	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41292794G>A	uc002opd.2	+	6	725	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	RAB4B_uc002opc.2_Non-coding_Transcript|RAB4B_uc002ope.2_Non-coding_Transcript|EGLN2_uc010ehd.3_5'UTR|RAB4B_uc002opf.2_Missense_Mutation_p.G216R	NM_016154	NP_057238	P61018	RAB4B_HUMAN	Homo sapiens RAB4B, member RAS oncogene family (RAB4B), mRNA.	190					protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	11			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CATTCAGTACGGGGATGCGTC	0.682													A	41292794	G	A	41292794	3	1	68	1	0	0	0	0	1	0	0	0	13035	1116	39	1	594	1	RAB4B	19	41292794	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	896875	41292794	17836189	47	4464											
AXL	558	broad.mit.edu	37	chr19	41726597	41726597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaatatcacaggtgccCggggactcacgggcaccctt	9	6	13	13	2	2	0	2	0	0	0	2	2	2	2	2	5	1	1	2	5	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:41726597C>T	uc010ehj.3	+	1	332	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	AXL_uc010ehi.1_Missense_Mutation_p.R48W|AXL_uc010ehk.3_Missense_Mutation_p.R48W	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	48	Ig-like C2-type 1.|Interaction with GAS6.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R48W(2)		breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CACAGGTGCCCGGGGACTCAC	0.622													T	41726597	C	T	41726597	3	4	68	1	0	0	0	0	1	0	0	0	1243	643	23	1	148	1	AXL	19	41726597	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	433803	41726597	17402386	48	4465											
ERCC1	2067	broad.mit.edu	37	chr19	45912970	45912970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctcgtgcaggacatcaAacagcctccgggcctggatg	9	6	14	12	2	1	0	1	0	0	0	3	2	2	2	3	4	3	2	3	4	1	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:45912970A>G	uc002pbs.2	-	9	1003	c.857T>C	c.(856-858)tTt>tCt	p.F286S	CD3EAP_uc002pbq.1_3'UTR|CD3EAP_uc002pbr.1_3'UTR|ERCC1_uc002pbt.2_Missense_Mutation_p.F262S|ERCC1_uc002pbu.2_Missense_Mutation_p.F214S	NM_001983	NP_001974	P07992	ERCC1_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence) (ERCC1), transcript variant 2, mRNA.	286					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	p.L285M(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		CAGGACATCAAACAGCCTCCG	0.502								Nucleotide excision repair (NER)					G	45912970	A	G	45912970	3	3	68	1	0	0	0	0	1	0	0	0	5253	14	1	3	40	3	ERCC1	19	45912970	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	4186373	45912970	13216013	49	4466											
NCR1	9437	broad.mit.edu	37	chr19	55420770	55420770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgggaaggtccaggcggaGttccccctgggccctgtgac	6	7	15	13	2	0	1	0	1	0	0	2	3	2	3	4	5	1	1	4	5	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr19:55420770G>C	uc002qib.2	+	3	560	c.522G>C	c.(520-522)gaG>gaC	p.E174D	NCR1_uc002qic.2_Missense_Mutation_p.E174D|NCR1_uc002qie.2_Missense_Mutation_p.E174D|NCR1_uc002qid.2_Missense_Mutation_p.E79D|NCR1_uc002qif.2_Missense_Mutation_p.E79D|NCR1_uc010esj.2_Missense_Mutation_p.E67D	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	174	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.A173V(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCAGGCGGAGTTCCCCCTGG	0.572													C	55420770	G	C	55420770	3	2	68	1	0	0	0	0	1	0	0	0	10313	1020	36	4	536	4	NCR1	19	55420770	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	9507800	55420770	3708213	50	4467											
CHGB	1114	broad.mit.edu	37	chr20	5903131	5903131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggaggaggacatccaagGcccaacaaaggcagacacag	16	1	14	10	0	0	1	0	0	0	1	1	4	1	4	2	6	1	1	2	6	3	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:5903131G>A	uc002wmg.3	+	3	647	c.341G>A	c.(340-342)gGc>gAc	p.G114D	CHGB_uc010zqz.2_Intron	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	114						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GACATCCAAGGCCCAACAAAG	0.607													A	5903131	G	A	5903131	3	1	68	1	0	0	0	0	1	0	0	0	3369	1203	42	2	355	2	CHGB	20	5903131	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		5903131	57122389	51	4468											
LSM14B	149986	broad.mit.edu	37	chr20	60697790	60697790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctccaaggcgcagatccGctacgagggcattctctaca	10	8	9	14	3	2	1	0	0	2	1	5	2	3	1	2	2	2	3	2	2	3	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr20:60697790G>A	uc010gjy.1	+	0	274	c.68G>A	c.(67-69)cGc>cAc	p.R23H	LSM14B_uc002ybt.2_Missense_Mutation_p.R23H|LSM14B_uc010gjx.1_Missense_Mutation_p.R23H|LSM14B_uc010gjz.1_5'Flank|LSM14B_uc010zzz.1_5'Flank	NM_144703	NP_653304	Q9BX40	LS14B_HUMAN	Homo sapiens LSM14B, SCD6 homolog B (S. cerevisiae) (LSM14B), mRNA.	23					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			GCGCAGATCCGCTACGAGGGC	0.706													A	60697790	G	A	60697790	3	1	68	1	0	0	0	0	1	0	0	0	9125	1087	38	1	70	1	LSM14B	20	60697790	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	54794659	60697790	2327730	52	4469											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852408	31852408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccattgtacgatgggcGgcagcagccatatccatagc	9	9	10	13	2	0	0	0	0	0	0	3	1	3	0	4	2	4	3	4	2	3	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:31852408G>A	uc011acx.2	-	0	229	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_181607	NP_853638	Q8IUB9	KR191_HUMAN	Homo sapiens keratin associated protein 19-1 (KRTAP19-1), mRNA.	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						TACGATGGGCGGCAGCAGCCA	0.488													A	31852408	G	A	31852408	3	1	68	1	0	0	0	0	1	0	0	0	8586	1116	39	1	45	1	KRTAP19-1	21	31852408	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		31852408	16277487	53	4470											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007726	32007726	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatggtggctatggataTggctgctgccgcccatcttg	5	12	14	10	1	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	3	4			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr21:32007726T>A	uc011adg.2	+	0	144	c.144T>A	c.(142-144)taT>taA	p.Y48*		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	48						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GCTATGGATATGGCTGCTGCC	0.557													A	32007726	T	A	32007726	4	1	68	1	0	0	0	0	0	1	0	0	8595	1471	51	5	146	5	KRTAP20-2	21	32007726	Nonsense_Mutation	SNP	T	TCGA-06-0878-01A-01W-0424-08	155318	32007726	16122169	54	4471											
BCL2L13	23786	broad.mit.edu	37	chr22	18178948	18178948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgggaatgtacactggagaCcacagttcatgccagcggct	10	8	12	11	2	1	1	1	0	0	1	2	3	1	2	2	3	3	3	2	3	2	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:18178948C>T	uc002zmw.3	+	4	646	c.428C>T	c.(427-429)aCc>aTc	p.T143I	BCL2L13_uc002zmu.3_Missense_Mutation_p.T143I|BCL2L13_uc002zmx.3_5'UTR|BCL2L13_uc002zmy.3_Intron|BCL2L13_uc010gqy.3_Intron|BCL2L13_uc011agk.2_Intron|BCL2L13_uc010gqz.3_Intron|BCL2L13_uc002zmz.3_Intron	NM_015367	NP_056182	Q9BXK5	B2L13_HUMAN	Homo sapiens BCL2-like 13 (apoptosis facilitator) (BCL2L13), nuclear gene encoding mitochondrial protein, mRNA.	143					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		ACACTGGAGACCACAGTTCAT	0.383													T	18178948	C	T	18178948	3	4	68	1	0	0	0	0	1	0	0	0	1376	507	18	2	442	2	BCL2L13	22	18178948	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08		18178948	33125618	55	4472											
TMPRSS6	164656	broad.mit.edu	37	chr22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcccttcttccagaCgaccgccatgatggcccccg	6	7	11	17	3	1	2	0	1	1	1	2	3	2	2	6	2	1	1	6	2	0	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:37482392C>T	uc003aqt.1	-	7	966	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	311	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667													T	37482392	C	T	37482392	3	4	68	1	0	0	0	0	1	0	0	0	16351	536	19	1	1548	1	TMPRSS6	22	37482392	Missense_Mutation	SNP	C	TCGA-06-0878-01A-01W-0424-08	19303444	37482392	13822174	56	4473											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189513	47189513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacgctggggaggacgacGatgagctcctggccatggcg	7	5	19	10	4	0	1	0	1	0	0	1	6	1	4	2	6	1	2	2	6	0	0			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chr22:47189513G>A	uc003bib.3	+	2	401	c.235G>A	c.(235-237)Gat>Aat	p.D79N	TBC1D22A_uc010haf.3_Missense_Mutation_p.D49N|TBC1D22A_uc003bie.3_Missense_Mutation_p.D60N|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.D32N	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	79						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GGAGGACGACGATGAGCTCCT	0.647													A	47189513	G	A	47189513	3	1	68	1	0	0	0	0	1	0	0	0	15708	1058	37	1	245	1	TBC1D22A	22	47189513	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08	9707121	47189513	4115053	57	4474											
SCML2	10389	broad.mit.edu	37	chrX	18275064	18275064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatcacactgcagactgtGgcagaagttctcaagaaagc	13	9	10	9	0	2	3	2	0	1	3	3	3	2	3	0	1	2	4	0	1	4	2			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:18275064G>A	uc004cyl.2	-	10	1517	c.1360C>T	c.(1360-1362)Cac>Tac	p.H454Y	SCML2_uc004cyk.3_Non-coding_Transcript|SCML2_uc010nfd.1_Missense_Mutation_p.H454Y|SCML2_uc011miz.1_Missense_Mutation_p.H388Y|SCML2_uc010nfc.2_Missense_Mutation_p.H190Y	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	454					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TGCAGACTGTGGCAGAAGTTC	0.468													A	18275064	G	A	18275064	3	1	68	1	0	0	0	0	1	0	0	0	14003	1348	47	2	762	2	SCML2	23	18275064	Missense_Mutation	SNP	G	TCGA-06-0878-01A-01W-0424-08		18275064	136995496	58	4475											
KLHL13	90293	broad.mit.edu	37	chrX	117054239	117054239	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcactagcagatgccAtcatgactctatgcacaggg	13	9	9	10	0	3	2	2	1	1	1	3	2	3	2	1	1	3	3	1	1	3	3			TCGA-06-0878-01A-01W-0424-08	TCGA-06-0878-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	07869e29-9ced-4be5-9a6c-8fd3c29ae487	054e6a05-b5f5-4c0f-bd7d-72a04819a7ab	g.chrX:117054239A>T	uc011mtp.2	-	3	477	c.344T>A	c.(343-345)aTg>aAg	p.M115K	KLHL13_uc004eqk.3_Missense_Mutation_p.M61K|KLHL13_uc004eql.3_Missense_Mutation_p.M112K|KLHL13_uc011mtn.2_5'UTR|KLHL13_uc011mto.2_Missense_Mutation_p.M106K|KLHL13_uc011mtq.2_Missense_Mutation_p.M96K|KLHL13_uc004eqm.3_Missense_Mutation_p.M70K|KLHL13_uc022cde.1_Missense_Mutation_p.M96K	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	112	BTB.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGCAGATGCCATCATGACTCT	0.408													T	117054239	A	T	117054239	3	4	68	1	0	0	0	0	1	0	0	0	8427	217	8	5	1652	5	KLHL13	23	117054239	Missense_Mutation	SNP	A	TCGA-06-0878-01A-01W-0424-08	98779175	117054239	38216321	59	4476											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285085	28285085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgaggcctatggggtgccGgacgccagcgcccactccat	7	5	13	16	4	0	0	0	0	0	0	1	2	1	1	6	4	2	0	6	4	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:28285085G>A	uc001bpg.3	+	7	1295	c.1104G>A	c.(1102-1104)ccG>ccA	p.P368P	SMPDL3B_uc010ofq.2_Silent_p.P162P|SMPDL3B_uc010ofr.2_Silent_p.P320P|XKR8_uc001bph.1_5'Flank	NM_014474	NP_055289	Q92485	ASM3B_HUMAN	Homo sapiens sphingomyelin phosphodiesterase, acid-like 3B (SMPDL3B), transcript variant 1, mRNA.	368					sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		ATGGGGTGCCGGACGCCAGCG	0.617													A	28285085	G	A	28285085	2	1	69	1	0	0	0	0	0	0	0	1	14903	1103	39	1		1	SMPDL3B	1	28285085	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		28285085	220965536	1	4477											
BRDT	676	broad.mit.edu	37	chr1	92479806	92479806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagtgacattatgaCaatgtttgaaaacaactttg	15	13	6	7	0	1	3	1	3	0	0	1	3	1	3	1	0	2	1	1	0	6	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:92479806C>A	uc001dol.4	+	19	3237	c.2819C>A	c.(2818-2820)aCa>aAa	p.T940K	BRDT_uc010osz.2_Missense_Mutation_p.T944K|BRDT_uc001dok.4_Missense_Mutation_p.T940K|BRDT_uc009wdf.3_Missense_Mutation_p.T867K|BRDT_uc010otb.2_Missense_Mutation_p.T894K|BRDT_uc010ota.2_Missense_Mutation_p.T894K|BRDT_uc001dom.4_Missense_Mutation_p.T940K	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GACATTATGACAATGTTTGAA	0.269													A	92479806	C	A	92479806	3	1	69	1	0	0	0	0	1	0	0	0	1517	478	17	4	2889	4	BRDT	1	92479806	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	64194721	92479806	156770815	2	4478											
COL11A1	1301	broad.mit.edu	37	chr1	103345386	103345386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgacagtggtaggtgaaAttttgccgagcagaggcagt	11	10	15	5	1	0	4	0	3	0	1	0	5	0	4	1	3	2	3	1	3	2	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:103345386A>G	uc001dum.3	-	65	5481	c.5163T>C	c.(5161-5163)aaT>aaC	p.N1721N	COL11A1_uc001duk.3_Silent_p.N905N|COL11A1_uc001dul.3_Silent_p.N1709N|COL11A1_uc001dun.3_Silent_p.N1670N|COL11A1_uc009weh.3_Silent_p.N1593N	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	1709	Fibrillar collagen NC1.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GGTAGGTGAAATTTTGCCGAG	0.423													G	103345386	A	G	103345386	2	3	69	1	0	0	0	0	0	0	0	1	3698	98	4	3		3	COL11A1	1	103345386	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	10865580	103345386	145905235	3	4479											
SLC6A17	388662	broad.mit.edu	37	chr1	110740739	110740739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccaactgggccatggcActcctgatcaccctcatcgt	7	10	7	17	1	2	1	2	1	0	0	5	1	4	1	5	2	1	1	5	2	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:110740739A>G	uc009wfq.3	+	11	2318	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A		NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	619					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GGGCCATGGCACTCCTGATCA	0.657													G	110740739	A	G	110740739	2	3	69	1	0	0	0	0	0	0	0	1	14774	146	6	3		3	SLC6A17	1	110740739	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	7395353	110740739	138509882	4	4480											
NCF2	4688	broad.mit.edu	37	chr1	183542320	183542320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagcaatcccacctacCgtcgccttgcctaggtaatc	9	9	8	15	2	0	1	0	1	0	0	3	1	1	1	5	1	4	3	5	1	4	4	rs147657171		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:183542320C>T	uc001gqj.4	-	5	884	c.609_splice	c.e5+1	p.T203_splice	NCF2_uc010pod.2_Splice_Site_p.T158_splice|NCF2_uc010poe.2_Intron|NCF2_uc001gqk.4_Splice_Site_p.T203_splice	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	203					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TCCCACCTACCGTCGCCTTGC	0.572													T	183542320	C	T	183542320	2	4	69	1	0	0	0	0	0	0	0	1	10293	666	23	1		1	NCF2	1	183542320	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	72801581	183542320	65708301	5	4481											
GALNT2	2590	broad.mit.edu	37	chr1	230314000	230314000	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaccccattaaaaagaaaGaccttcatcacagcaatgga	17	8	6	10	0	2	3	2	1	0	2	2	4	2	4	3	1	1	1	3	1	5	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:230314000G>C	uc010pwa.1	+	1	235	c.163G>C	c.(163-165)Gac>Cac	p.D55H	GALNT2_uc010pvy.1_Missense_Mutation_p.D17H|GALNT2_uc010pvz.1_Intron	NM_004481	NP_004472	Q10471	GALT2_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2) (GALNT2), mRNA.	55					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TAAAAAGAAAGACCTTCATCA	0.473													C	230314000	G	C	230314000	3	2	69	1	0	0	0	0	1	0	0	0	6267	942	33	4	169	4	GALNT2	1	230314000	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	46771680	230314000	18936621	6	4482											
LGALS8	3964	broad.mit.edu	37	chr1	236704996	236704996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtctggaactgacagagAtaagtagagaaaatgtaaat	18	9	10	4	0	1	3	0	1	1	2	1	6	1	4	0	1	1	2	0	1	8	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:236704996A>G	uc001hxz.2	+	6	889	c.508A>G	c.(508-510)Ata>Gta	p.I170V	LGALS8_uc001hxw.2_Missense_Mutation_p.I170V|LGALS8_uc001hxy.2_Missense_Mutation_p.I170V|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.I170V|LGALS8_uc001hyc.2_Intron	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	170						cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACTGACAGAGATAAGTAGAGA	0.308													G	236704996	A	G	236704996	3	3	69	1	0	0	0	0	1	0	0	0	8807	333	12	3	526	3	LGALS8	1	236704996	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	6390996	236704996	12545625	7	4483											
VN1R5	317705	broad.mit.edu	37	chr1	247419512	247419512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggttttattaccatataaAtcttcttttatccacaagcc	11	17	3	10	0	2	0	0	0	2	0	3	0	3	0	3	1	2	1	3	1	7	8			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr1:247419512A>G	uc010pyu.2	+	2	136	c.136_splice	c.e2-1	p.I46_splice		NM_173858	NP_776257	Q7Z5H4	VN1R5_HUMAN	Homo sapiens vomeronasal 1 receptor 5 (gene/pseudogene) (VN1R5), mRNA.	47					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity					all_cancers(71;5.7e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)	all_cancers(173;0.0314)	OV - Ovarian serous cystadenocarcinoma(106;0.00854)			TACCATATAAATCTTCTTTTA	0.353													G	247419512	A	G	247419512	3	3	69	1	0	0	0	0	1	0	0	0	17283	101	4	3	141	3	VN1R5	1	247419512	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	10714516	247419512	1831109	8	4484											
FAM136A	84908	broad.mit.edu	37	chr2	70524589	70524589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgtcgttgcaatgcatGgtgcaccgggccaggcggtc	5	10	15	11	3	0	0	0	0	0	0	2	0	0	0	2	4	3	5	2	4	1	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:70524589G>A	uc002sgq.4	-	2	326	c.249C>T	c.(247-249)acC>acT	p.T83T	FAM136A_uc010fdp.3_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.	83						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TGCAATGCATGGTGCACCGGG	0.512													A	70524589	G	A	70524589	2	1	69	1	0	0	0	0	0	0	0	1	5495	1335	47	2		2	FAM136A	2	70524589	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		70524589	172674784	9	4485											
TEKT4	150483	broad.mit.edu	37	chr2	95537709	95537709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaacggctggagcgcGccctggacgccacagaggtg	10	3	16	12	4	0	2	0	0	0	2	0	4	0	4	2	4	3	2	2	4	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:95537709G>A	uc002stw.1	+	0	478	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	LOC442028_uc021vlc.1_Non-coding_Transcript|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	129					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTGGAGCGCGCCCTGGACGC	0.657													A	95537709	G	A	95537709	3	1	69	1	0	0	0	0	1	0	0	0	15855	1087	38	1	387	1	TEKT4	2	95537709	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	25013120	95537709	147661664	10	4486											
SCN1A	6323	broad.mit.edu	37	chr2	166847871	166847871	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacatggtcagatcagtttTttctgtaatagagttttcat	10	17	9	5	0	4	2	3	0	1	2	4	3	4	3	0	2	0	3	0	2	2	7			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:166847871T>A	uc002udo.4	-	27	6141	c.5914A>T	c.(5914-5916)Aaa>Taa	p.K1972*	SCN1A_uc010fpk.3_Nonsense_Mutation_p.K1944*|SCN1A_uc021vsb.1_Nonsense_Mutation_p.K1961*	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1972						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGATCAGTTTTTTCTGTAATA	0.363													A	166847871	T	A	166847871	4	1	69	1	0	0	0	0	0	1	0	0	14007	1850	64	5	119	5	SCN1A	2	166847871	Nonsense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	71310162	166847871	76351502	11	4487											
OSBPL6	114880	broad.mit.edu	37	chr2	179253861	179253861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaagcagtgtttgcatttGcaaactcacatttgtcaagg	13	12	8	8	0	2	0	2	0	0	0	2	0	2	0	0	1	4	4	0	1	4	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:179253861G>A	uc002uly.3	+	21	2901	c.2357G>A	c.(2356-2358)tGc>tAc	p.C786Y	MIR548N_uc021vsx.1_Intron|OSBPL6_uc002ulx.3_Missense_Mutation_p.C761Y|OSBPL6_uc010zfe.2_Missense_Mutation_p.C730Y|OSBPL6_uc002ulz.3_Missense_Mutation_p.C725Y|OSBPL6_uc002uma.3_Missense_Mutation_p.C765Y	NM_001201480	NP_001188409	Q9BZF3	OSBL6_HUMAN	Homo sapiens oxysterol binding protein-like 6 (OSBPL6), transcript variant 3, mRNA.	761					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GTTTGCATTTGCAAACTCACA	0.333													A	179253861	G	A	179253861	3	1	69	1	0	0	0	0	1	0	0	0	11357	1319	46	2	2478	2	OSBPL6	2	179253861	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	12405990	179253861	63945512	12	4488											
TTN	7273	broad.mit.edu	37	chr2	179634524	179634524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttccctgcacaactatCttgaacttttcactcatctc	9	16	3	13	0	4	1	2	1	2	0	6	1	5	1	1	0	3	2	1	0	3	6			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:179634524C>A	uc021vsy.1	-	36	9009	c.8784G>T	c.(8782-8784)aaG>aaT	p.K2928N	TTN_uc021vsz.1_Missense_Mutation_p.K2882N|TTN_uc021vta.1_Missense_Mutation_p.K2882N|TTN_uc021vtb.1_Missense_Mutation_p.K2882N|TTN_uc002unb.2_Missense_Mutation_p.K2928N	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2928	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCACAACTATCTTGAACTTTT	0.458													A	179634524	C	A	179634524	3	1	69	1	0	0	0	0	1	0	0	0	16837	912	32	4	102508	4	TTN	2	179634524	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	380663	179634524	63564849	13	4489											
ZSWIM2	151112	broad.mit.edu	37	chr2	187692829	187692829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttcccccatacagttaCtataccttttagacaaacta	14	14	2	11	0	0	1	0	0	0	1	1	1	1	1	3	0	4	1	3	0	8	9			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:187692829C>G	uc002upu.1	-	8	1824	c.1784G>C	c.(1783-1785)aGt>aCt	p.S595T		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	595					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CATACAGTTACTATACCTTTT	0.338													G	187692829	C	G	187692829	3	3	69	1	0	0	0	0	1	0	0	0	18338	565	20	4	121	4	ZSWIM2	2	187692829	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	8058305	187692829	55506544	14	4490											
FAM126B	285172	broad.mit.edu	37	chr2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttatccttggctgaaCgcccagttgctactttcctt	5	18	6	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	3	8	rs138872845		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:201846441C>T	uc002uws.4	-	11	1333	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	382						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493													T	201846441	C	T	201846441	3	4	69	1	0	0	0	0	1	0	0	0	5475	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	14153612	201846441	41352932	15	4491											
CHRNG	1146	broad.mit.edu	37	chr2	233405386	233405386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgagggtgccgtccacCatggtgtggcggccggatat	5	9	17	10	3	0	1	0	1	0	0	1	2	1	2	4	5	2	1	4	5	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr2:233405386C>T	uc002vsx.1	+	3	336	c.315C>T	c.(313-315)acC>acT	p.T105T	CHRNG_uc010fyd.3_Silent_p.T105T|CHRNG_uc010fye.1_Silent_p.T105T	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	105					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGCCGTCCACCATGGTGTGGC	0.652													T	233405386	C	T	233405386	2	4	69	1	0	0	0	0	0	0	0	1	3426	581	21	2		2	CHRNG	2	233405386	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	31558945	233405386	9793987	16	4492											
ITPR1	3708	broad.mit.edu	37	chr3	4716846	4716846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggccatattggactGtgtacatgtgacaacaatct	10	13	8	10	0	2	1	0	1	2	0	2	2	2	2	2	2	2	1	2	2	4	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:4716846G>A	uc003bqc.3	+	21	2998	c.2648G>A	c.(2647-2649)tGt>tAt	p.C883Y	ITPR1_uc021wsi.1_Missense_Mutation_p.C898Y|ITPR1_uc021wsj.1_Missense_Mutation_p.C883Y|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	898					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATATTGGACTGTGTACATGTG	0.393													A	4716846	G	A	4716846	3	1	69	1	0	0	0	0	1	0	0	0	7978	1377	48	2	2775	2	ITPR1	3	4716846	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		4716846	193305584	17	4493											
SRGAP3	9901	broad.mit.edu	37	chr3	9034619	9034619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccccaaagccgtaatcCgagatgtgctccgtggggga	9	6	12	14	3	0	1	0	0	0	1	2	3	2	2	6	2	2	2	6	2	2	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:9034619C>T	uc003brf.1	-	19	3205	c.2529G>A	c.(2527-2529)tcG>tcA	p.S843S	SRGAP3_uc003brg.1_Silent_p.S819S	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	843					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AGCCGTAATCCGAGATGTGCT	0.557			T	RAF1	pilocytic astrocytoma								T	9034619	C	T	9034619	2	4	69	1	0	0	0	0	0	0	0	1	15243	639	23	1		1	SRGAP3	3	9034619	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	4317773	9034619	188987811	18	4494											
SLC6A6	6533	broad.mit.edu	37	chr3	14509599	14509599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatgtgtaacttagggaCtgtatgctgctgggatgcct	9	13	12	7	0	0	0	0	0	0	0	0	2	0	2	1	2	4	4	1	2	4	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:14509599C>A	uc010heg.3	+	8	1274	c.975C>A	c.(973-975)gaC>gaA	p.D325E	SLC6A6_uc003byq.3_Missense_Mutation_p.D325E|SLC6A6_uc003byr.3_Intron	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	325					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						AACTTAGGGACTGTATGCTGC	0.453											OREG0015421	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14509599	C	A	14509599	3	1	69	1	0	0	0	0	1	0	0	0	14782	564	20	4	1005	4	SLC6A6	3	14509599	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	5474980	14509599	183512831	19	4495											
ADCY5	111	broad.mit.edu	37	chr3	123003491	123003491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccattgaggaagtaggtCatcatctcgcctttgccctt	7	13	8	13	1	3	1	2	1	1	0	5	2	4	2	4	2	1	1	4	2	2	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:123003491C>A	uc003egh.2	-	20	3750	c.3750G>T	c.(3748-3750)atG>atT	p.M1250I	ADCY5_uc021xdd.1_Missense_Mutation_p.M900I|ADCY5_uc003egg.2_Missense_Mutation_p.M908I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1250					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GGAAGTAGGTCATCATCTCGC	0.607													A	123003491	C	A	123003491	3	1	69	1	0	0	0	0	1	0	0	0	297	826	29	4	39	4	ADCY5	3	123003491	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	108493892	123003491	75018939	20	4496											
ATP2C1	27032	broad.mit.edu	37	chr3	130672707	130672707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccagcttgacaggtgagAcaacgccttgttctaaggtg	10	10	12	9	1	1	2	0	2	1	1	2	3	2	2	2	2	2	2	2	2	2	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:130672707A>G	uc011bli.2	+	7	972	c.676A>G	c.(676-678)Aca>Gca	p.T226A	ATP2C1_uc011blg.2_Missense_Mutation_p.T226A|ATP2C1_uc011blh.2_Missense_Mutation_p.T187A|ATP2C1_uc003enk.3_Missense_Mutation_p.T176A|ATP2C1_uc003enl.3_Missense_Mutation_p.T192A|ATP2C1_uc003enm.3_Missense_Mutation_p.T192A|ATP2C1_uc003enn.3_Missense_Mutation_p.T176A|ATP2C1_uc003eno.3_Missense_Mutation_p.T192A|ATP2C1_uc003enp.3_Missense_Mutation_p.T192A|ATP2C1_uc003ent.3_Missense_Mutation_p.T192A|ATP2C1_uc003ens.3_Missense_Mutation_p.T192A	NM_001199180	NP_001186109	P98194	AT2C1_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 1 (ATP2C1), transcript variant 6, mRNA.	192					actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	GACAGGTGAGACAACGCCTTG	0.438									Hailey-Hailey disease				G	130672707	A	G	130672707	3	3	69	1	0	0	0	0	1	0	0	0	1148	275	10	3	604	3	ATP2C1	3	130672707	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	7669216	130672707	67349723	21	4497											
AADACL2	344752	broad.mit.edu	37	chr3	151475174	151475174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttacagaatttgccactaaCctatattcttacttgtcaac	12	15	4	10	0	2	1	1	0	1	1	2	1	2	1	2	0	5	1	2	0	7	8			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:151475174C>T	uc003ezc.3	+	4	1118	c.998C>T	c.(997-999)aCc>aTc	p.T333I	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.T120I	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	333						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTGCCACTAACCTATATTCTT	0.378													T	151475174	C	T	151475174	3	4	69	1	0	0	0	0	1	0	0	0	11	507	18	2	1016	2	AADACL2	3	151475174	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	20802467	151475174	46547256	22	4498											
PIK3CA	5290	broad.mit.edu	37	chr3	178928081	178928081	+	Missense_Mutation	SNP	A	A	C																															ccagtacctcatggattagaAgatttgctgaaccctattgg																										TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:178928081A>C	uc003fjk.3	+	7	1516	c.1359A>C	c.(1357-1359)gaA>gaC	p.E453D		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(9)|p.E453Q(3)|p.P449_L455del(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.E453A(1)|p.E453del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGGATTAGAAGATTTGCTGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178928081	A	C	178928081	3	2	69	1	0	0	0	0	1	0	0	0	11990	69	3	5	1385	5	PIK3CA	3	178928081	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	27452907	178928081	19094349	23	4499	6	2									
PIK3CA	5290	broad.mit.edu	37	chr3	178928087	178928101	+	In_Frame_Del	DEL	GCTGAACCCTATTGG	GCTGAACCCTATTGG	-																															cctcatggattagaagatttGctgaaccctattggtgttac																										TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr3:178928087_178928101delGCTGAACCCTATTGG	uc003fjk.3	+	7	1522_1536	c.1365_1379delGCTGAACCCTATTGG	c.(1363-1380)ttgctgaaccctattggt>ttt	p.455_460LLNPIG>F		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	455	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N457K(2)|p.G451_L456>V(2)|p.H450fs*9(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAGAAGATTTGCTGAACCCTATTGGTGTTACTGGA	0.33		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178928101	GCTGAACCCTATTGG	-	178928087	7	5	69	1	0	1	0	1	0	0	0	0	11990	1310	46	0	1391	0	PIK3CA	3	178928087	In_Frame_Del	DEL	GCTGAACCCTATTGG	TCGA-06-0879-01A-01W-0424-08	6	178928087	19094343	24	4500	6	2									
FBN2	2201	broad.mit.edu	37	chr5	127728897	127728897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacgccaggagaaaagcCattgcctccagggatgggga	12	4	13	12	1	0	1	0	0	0	1	1	4	1	3	5	4	3	0	5	4	3	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:127728897C>T	uc003kuu.3	-	9	1835	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	FBN2_uc003kuv.2_Missense_Mutation_p.G433S	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	466					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GGAGAAAAGCCATTGCCTCCA	0.587													T	127728897	C	T	127728897	3	4	69	1	0	0	0	0	1	0	0	0	5752	594	21	2	7566	2	FBN2	5	127728897	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		127728897	53186363	25	4501											
PCDHB3	56132	broad.mit.edu	37	chr5	140481943	140481943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcagaacggctccgcGccctgcaccgagctggtgcc	5	5	13	18	5	0	1	0	0	0	1	1	2	1	1	5	2	5	5	5	2	1	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140481943G>A	uc003lio.3	+	0	1710	c.1710G>A	c.(1708-1710)gcG>gcA	p.A570A	BC016751_uc003lin.3_5'Flank	NM_018937	NP_061760	Q9Y5E6	PCDB3_HUMAN	Homo sapiens protocadherin beta 3 (PCDHB3), mRNA.	570	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACGGCTCCGCGCCCTGCACCG	0.711													A	140481943	G	A	140481943	2	1	69	1	0	0	0	0	0	0	0	1	11619	1074	38	1		1	PCDHB3	5	140481943	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	12753046	140481943	40433317	26	4502											
PCDHB8	56128	broad.mit.edu	37	chr5	140558277	140558277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactggatggtggctctcCgcccagatctggcactgctc	6	9	12	14	1	2	1	0	0	2	1	4	2	2	2	2	4	2	4	2	4	0	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140558277C>T	uc011dai.2	+	0	907	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PCDHB16_uc003liv.3_5'Flank	NM_019120	NP_061993	Q9UN66	PCDB8_HUMAN	Homo sapiens protocadherin beta 8 (PCDHB8), mRNA.	221	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P221L(2)		NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.522													T	140558277	C	T	140558277	3	4	69	1	0	0	0	0	1	0	0	0	11624	652	23	1	664	1	PCDHB8	5	140558277	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	76334	140558277	40356983	27	4503											
PCDHB13	56123	broad.mit.edu	37	chr5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactggatggtggctctcCgcccagatctggcactgctc	6	9	12	14	1	2	1	0	0	2	1	4	2	2	2	2	4	2	4	2	4	0	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140594357C>T	uc003lja.1	+	0	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P221L(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532													T	140594357	C	T	140594357	3	4	69	1	0	0	0	0	1	0	0	0	11614	652	23	1	664	1	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	36080	140594357	40320903	28	4504											
PCDHGC5	56107	broad.mit.edu	37	chr5	140782948	140782948	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctggaagtaaaaattaaCgaaatcgcggttcctggagc	14	9	11	7	3	1	0	0	0	1	0	3	3	2	2	1	3	2	2	1	3	6	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:140782948C>T	uc003lkh.2	+	0	429	c.429C>T	c.(427-429)aaC>aaT	p.N143N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Silent_p.N143N	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	143	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAAAATTAACGAAATCGCGG	0.473													T	140782948	C	T	140782948	2	4	69	1	0	0	0	0	0	0	0	1	11647	535	19	1		1	PCDHGC5	5	140782948	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	188591	140782948	40132312	29	4505											
AFAP1L1	134265	broad.mit.edu	37	chr5	148687124	148687124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctgctgcggaaaaagcGtttcgggcagtgggccaagc	8	8	14	11	3	0	0	0	0	0	0	2	1	1	1	2	3	4	3	2	3	3	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:148687124G>A	uc003lqh.3	+	6	826	c.695G>A	c.(694-696)cGt>cAt	p.R232H	AFAP1L1_uc003lqg.4_Missense_Mutation_p.R232H|AFAP1L1_uc010jgy.3_Missense_Mutation_p.R232H	NM_152406	NP_689619	Q8TED9	AF1L1_HUMAN	Homo sapiens actin filament associated protein 1-like 1 (AFAP1L1), transcript variant 1, mRNA.	232	PH 1.						protein binding	p.R232C(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAAAAGCGTTTCGGGCAG	0.627													A	148687124	G	A	148687124	3	1	69	1	0	0	0	0	1	0	0	0	354	1145	40	1	721	1	AFAP1L1	5	148687124	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	7904176	148687124	32228136	30	4506											
FAT2	2196	broad.mit.edu	37	chr5	150901299	150901299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgccccacatgccacaCgtacacatggaccccagcag	10	5	7	19	1	0	0	0	0	0	0	1	1	1	1	6	1	4	2	6	1	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr5:150901299C>T	uc003lue.4	-	17	10868	c.10855G>A	c.(10855-10857)Gtg>Atg	p.V3619M	FAT2_uc003lud.4_Missense_Mutation_p.V312M	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	3619	Cadherin 32.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACATGCCACACGTACACATGG	0.627													T	150901299	C	T	150901299	3	4	69	1	0	0	0	0	1	0	0	0	5739	536	19	1	2218	1	FAT2	5	150901299	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	2214175	150901299	30013961	31	4507											
MDN1	23195	broad.mit.edu	37	chr6	90387330	90387330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacgatggacaatgcGctctggagatctaatgggtg	9	10	14	8	2	2	2	0	1	2	1	2	5	2	3	0	3	2	2	0	3	2	1	rs116003199	by1000genomes	TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:90387330G>A	uc003pnn.1	-	75	12614	c.12498C>T	c.(12496-12498)agC>agT	p.S4166S		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	4166					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TGGACAATGCGCTCTGGAGAT	0.423													A	90387330	G	A	90387330	2	1	69	1	0	0	0	0	0	0	0	1	9490	1078	38	1		1	MDN1	6	90387330	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08		90387330	80727737	32	4508											
ASCC3	10973	broad.mit.edu	37	chr6	101248186	101248186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttattacctttgtatccGcaattccttaggatcaaagc	10	16	5	10	1	1	0	1	0	0	0	3	1	3	1	3	1	2	2	3	1	6	7			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:101248186G>A	uc003pqk.3	-	5	1446	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	ASCC3_uc011eai.1_Missense_Mutation_p.R275W|ASCC3_uc003pql.3_Missense_Mutation_p.R373W	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	373					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.R373W(2)		breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		CTTTGTATCCGCAATTCCTTA	0.348													A	101248186	G	A	101248186	3	1	69	1	0	0	0	0	1	0	0	0	1038	1086	38	1	5639	1	ASCC3	6	101248186	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	10860856	101248186	69866881	33	4509											
TMEM200A	114801	broad.mit.edu	37	chr6	130762663	130762663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagtcatctatggctctcGgacctggggctggacagctc	8	9	12	12	1	3	0	1	0	2	0	5	2	3	2	1	5	1	3	1	5	2	1	rs140251464		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr6:130762663G>A	uc003qcb.3	+	1	3474	c.1096G>A	c.(1096-1098)Gga>Aga	p.G366R	TMEM200A_uc003qca.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfh.3_Missense_Mutation_p.G366R|TMEM200A_uc010kfi.3_Missense_Mutation_p.G366R|TMEM200A_uc021zfg.1_Missense_Mutation_p.G366R	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	366						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		TATGGCTCTCGGACCTGGGGC	0.522													A	130762663	G	A	130762663	3	1	69	1	0	0	0	0	1	0	0	0	16223	1117	39	1	1098	1	TMEM200A	6	130762663	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	29514477	130762663	40352404	34	4510											
EGFR	1956	broad.mit.edu	37	chr7	55249010	55249011	+	In_Frame_Ins	INS	-	-	ACAACCCCC																															ctacgtgatggccagcgtggINSacaacccccacgtgtgccgc																										TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:55249010_55249011insACAACCCCC	uc003tqk.3	+	19	2554_2555	c.2308_2309insACAACCCCC	c.(2308-2310)gac>gACAACCCCCac	p.773_774insNPH	EGFR_uc022adm.1_In_Frame_Ins_p.773_774insNPH|EGFR_uc010kzg.2_In_Frame_Ins_p.728_729insNPH|EGFR_uc022adn.1_In_Frame_Ins_p.728_729insNPH|EGFR_uc011kco.2_In_Frame_Ins_p.720_721insNPH|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.8_9insNPH	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	773	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(15)|p.V769_D770insASV(14)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.H773_V774insPH(3)|p.D770>GY(3)|p.H773_V774insH(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.P772_H773insYNP(2)|p.P772_H773insX(2)|p.D770_P772>ASVDNR(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.H773L(2)|p.H773Y(2)|p.V769_D770insMASVD(2)|p.N771_P772>SVDNR(2)|p.H773_V774insGH(1)|p.V769_D770insCV(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.P772_H773insV(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770fs*61(1)|p.P772_H773insHV(1)|p.V769_D770insGSV(1)|p.V774L(1)|p.V769_D770insDNV(1)|p.P772_H773insDHP(1)|p.P772_H773insTHP(1)|p.P772_H773insDNP(1)|p.N771_P772insRH(1)|p.H773>NPY(1)|p.P772_H773insQV(1)|p.D770_N771insDG(1)|p.P772H(1)|p.H773_V774>LM(1)|p.D770_N771>AGG(1)|p.P772P(1)|p.P772S(1)|p.P772R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGCCAGCGTGGACAACCCCCAC	0.649		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			ACAACCCCC	55249011	-	ACAACCCCC	55249010	7	5	69	1	0	1	1	0	0	0	0	0	5006	1174	41	0	2650	0	EGFR	7	55249010	In_Frame_Ins	INS	-	TCGA-06-0879-01A-01W-0424-08		55249010	103889653	35	4511											
KEL	3792	broad.mit.edu	37	chr7	142649600	142649600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgctcctctcctcaccatgGgtggttgctctgtcagttcc	3	13	9	16	1	4	0	2	0	2	0	7	0	6	0	5	2	1	4	5	2	0	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:142649600G>T	uc003wcb.3	-	9	1409	c.1199C>A	c.(1198-1200)cCc>cAc	p.P400H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	400					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.P399S(1)|p.P399Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCTCACCATGGGTGGTTGCTC	0.552													T	142649600	G	T	142649600	3	4	69	1	0	0	0	0	1	0	0	0	8200	1232	43	4	1039	4	KEL	7	142649600	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	87400590	142649600	16489063	36	4512											
ABP1	26	broad.mit.edu	37	chr7	150558187	150558187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagagacactgtgatcGtgtggcctcgggacaacggc	9	7	13	12	3	0	2	0	1	0	1	3	4	1	3	2	3	1	0	2	3	1	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr7:150558187G>A	uc003why.1	+	5	6364	c.2146G>A	c.(2146-2148)Gtg>Atg	p.V716M	ABP1_uc003whz.1_Missense_Mutation_p.V716M|ABP1_uc003wia.1_Missense_Mutation_p.V735M	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	716					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	CACTGTGATCGTGTGGCCTCG	0.602													A	150558187	G	A	150558187	3	1	69	1	0	0	0	0	1	0	0	0	98	1145	40	1	2160	1	ABP1	7	150558187	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	7908587	150558187	8580476	37	4513											
DOCK5	80005	broad.mit.edu	37	chr8	25225732	25225732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacatgagaaaggaaatCggctttagaatccgggacat	14	7	14	6	2	0	2	0	1	0	2	2	6	1	5	1	5	0	1	1	5	4	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr8:25225732C>T	uc003xeg.3	+	31	3386	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1083						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGGAAATCGGCTTTAGAA	0.413													T	25225732	C	T	25225732	2	4	69	1	0	0	0	0	0	0	0	1	4729	874	31	1		1	DOCK5	8	25225732	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		25225732	121138290	38	4514											
CALML5	51806	broad.mit.edu	37	chr10	5541186	5541186	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccctggccttcttcgcCgccgtcaggaactcctggaa	5	8	11	17	4	2	0	1	0	1	0	4	2	3	2	6	4	1	0	6	4	2	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr10:5541186C>T	uc001iic.2	-	0	348	c.216G>A	c.(214-216)gcG>gcA	p.A72A		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	72	EF-hand 2.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						CCTTCTTCGCCGCCGTCAGGA	0.662													T	5541186	C	T	5541186	2	4	69	1	0	0	0	0	0	0	0	1	2615	639	23	1		1	CALML5	10	5541186	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		5541186	129993561	39	4515											
SORCS3	22986	broad.mit.edu	37	chr10	106899184	106899184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggaagagccagctactaCgtgtcttatcgaagagaggc	12	8	13	8	2	1	2	0	0	1	2	2	5	1	3	1	2	4	1	1	2	5	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr10:106899184C>T	uc001kyi.1	+	7	1469	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	414						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CCAGCTACTACGTGTCTTATC	0.488													T	106899184	C	T	106899184	2	4	69	1	0	0	0	0	0	0	0	1	15026	547	19	1		1	SORCS3	10	106899184	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	101357998	106899184	28635563	40	4516											
MEN1	4221	broad.mit.edu	37	chr11	64575418	64575418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggtcctcgttgcccttgCcgtgccaggtgacctcagct	3	11	12	15	3	1	1	1	1	0	0	3	1	2	1	5	2	5	2	5	2	0	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr11:64575418C>T	uc001obj.3	-	2	687	c.614G>A	c.(613-615)gGc>gAc	p.G205D	MEN1_uc001obk.3_Missense_Mutation_p.G205D|MEN1_uc001obl.3_Intron|MEN1_uc001obm.3_Missense_Mutation_p.G200D|MEN1_uc001obn.3_Missense_Mutation_p.G205D|MEN1_uc001obo.3_Missense_Mutation_p.G205D|MEN1_uc001obq.3_Missense_Mutation_p.G205D|MEN1_uc001obr.3_Missense_Mutation_p.G205D	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	205					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTTGCCCTTGCCGTGCCAGGT	0.627			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				T	64575418	C	T	64575418	3	4	69	1	0	0	0	0	1	0	0	0	9547	739	26	2	1265	2	MEN1	11	64575418	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		64575418	70431098	41	4517											
CCDC81	60494	broad.mit.edu	37	chr11	86123501	86123501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagaggaatattcccggAgtctcctgaaacaaatggat	15	8	10	8	1	1	2	0	1	1	1	3	5	2	5	2	3	2	1	2	3	5	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr11:86123501A>G	uc001pbx.2	+	10	1719	c.1291A>G	c.(1291-1293)Agt>Ggt	p.S431G	CCDC81_uc001pbw.2_Missense_Mutation_p.S341G|CCDC81_uc010rtq.2_Missense_Mutation_p.S214G|CCDC81_uc001pby.2_Missense_Mutation_p.S166G	NM_001156474	NP_001149946	Q6ZN84	CCD81_HUMAN	Homo sapiens coiled-coil domain containing 81 (CCDC81), transcript variant 1, mRNA.	431								p.E430*(1)		kidney(3)|large_intestine(8)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	20		Acute lymphoblastic leukemia(157;5.51e-06)|all_hematologic(158;0.00535)				ATATTCCCGGAGTCTCCTGAA	0.418													G	86123501	A	G	86123501	3	3	69	1	0	0	0	0	1	0	0	0	2883	304	11	3	1333	3	CCDC81	11	86123501	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08	21548083	86123501	48883015	42	4518											
GLI1	2735	broad.mit.edu	37	chr12	57863263	57863263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctgcagcagtgaccactCcccggcagggagtgcagcca	9	5	12	15	1	0	1	0	1	0	0	2	2	2	2	5	2	4	4	5	2	0	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:57863263C>T	uc001snx.3	+	10	1452	c.1358C>T	c.(1357-1359)tCc>tTc	p.S453F	GLI1_uc021qzi.1_Missense_Mutation_p.S412F|GLI1_uc009zpq.3_Missense_Mutation_p.S325F	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	453					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTGACCACTCCCCGGCAGGG	0.602													T	57863263	C	T	57863263	3	4	69	1	0	0	0	0	1	0	0	0	6493	855	30	2	1396	2	GLI1	12	57863263	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		57863263	75988632	43	4519											
CAND1	55832	broad.mit.edu	37	chr12	67691247	67691247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtctacttccccagttGaccagccctagacttgcagt	8	11	7	15	0	1	2	0	1	1	1	2	2	2	2	5	0	3	2	5	0	2	5			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:67691247G>T	uc001stn.2	+	4	989	c.552G>T	c.(550-552)ttG>ttT	p.L184F	CAND1_uc001sto.2_5'Flank	NM_018448	NP_060918	Q86VP6	CAND1_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 1 (CAND1), mRNA.	184					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTCCCCAGTTGACCAGCCCTA	0.368													T	67691247	G	T	67691247	3	4	69	1	0	0	0	0	1	0	0	0	2641	1281	45	4	570	4	CAND1	12	67691247	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	9827984	67691247	66160648	44	4520											
MGAT4C	25834	broad.mit.edu	37	chr12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggaccatggcatcacGccaggaagaattaaagtctg	13	8	10	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	4	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:86374059G>A	uc010sum.2	-	5	676	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C	MGAT4C_uc001tal.4_Missense_Mutation_p.R149C|MGAT4C_uc001taj.4_Missense_Mutation_p.R149C|MGAT4C_uc001tak.4_Missense_Mutation_p.R149C|MGAT4C_uc001tai.4_Missense_Mutation_p.R149C|MGAT4C_uc001tah.4_Missense_Mutation_p.R149C	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													A	86374059	G	A	86374059	3	1	69	1	0	0	0	0	1	0	0	0	9622	1087	38	1	995	1	MGAT4C	12	86374059	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	18682812	86374059	47477836	45	4521											
C12orf63	374467	broad.mit.edu	37	chr12	97087577	97087577	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaatctagaagcaagAatcctcaaggtatgttacaa	19	8	7	7	0	2	3	1	0	1	3	3	3	3	3	1	1	2	3	1	1	10	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:97087577A>G	uc021rcc.1	+	11	1695	c.1617A>G	c.(1615-1617)agA>agG	p.R539R				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	539										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						TAGAAGCAAGAATCCTCAAGG	0.308													G	97087577	A	G	97087577	2	3	69	1	0	0	0	0	0	0	0	1	1719	243	9	3		3	C12orf63	12	97087577	Silent	SNP	A	TCGA-06-0879-01A-01W-0424-08	10713518	97087577	36764318	46	4522											
RIMBP2	23504	broad.mit.edu	37	chr12	130926697	130926697	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtccttgcccaccagcagCgtgcactgcagctcatccga	8	7	9	17	3	1	0	1	0	0	0	3	1	3	0	4	0	6	4	4	0	0	1	rs149109982		TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr12:130926697C>T	uc001uil.2	-	7	1365	c.1149G>A	c.(1147-1149)acG>acA	p.T383T	RIMBP2_uc001uim.3_Silent_p.T291T	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	383						cell junction|synapse		p.T383M(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CCACCAGCAGCGTGCACTGCA	0.637													T	130926697	C	T	130926697	2	4	69	1	0	0	0	0	0	0	0	1	13452	755	27	1		1	RIMBP2	12	130926697	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	33839120	130926697	2925198	47	4523											
MTUS2	23281	broad.mit.edu	37	chr13	29600822	29600822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggtggacgcctcgctgGttccagtggggcttccatat	5	10	14	12	2	0	0	0	0	0	0	3	1	2	1	4	5	0	3	4	5	1	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:29600822G>T	uc001usl.4	+	0	2075	c.2017G>T	c.(2017-2019)Gtt>Ttt	p.V673F		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	663	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CGCCTCGCTGGTTCCAGTGGG	0.587													T	29600822	G	T	29600822	3	4	69	1	0	0	0	0	1	0	0	0	10042	1261	44	4	2019	4	MTUS2	13	29600822	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		29600822	85569056	48	4524											
BRCA2	675	broad.mit.edu	37	chr13	32911000	32911000	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgttgagctgttgccaccTgaaaaatacatgagagtagc	14	9	10	8	1	0	3	0	3	0	1	0	4	0	3	2	0	5	4	2	0	5	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:32911000T>C	uc001uub.1	+	10	2735	c.2508T>C	c.(2506-2508)ccT>ccC	p.P836P		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	836	Interaction with NPM1.				cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGTTGCCACCTGAAAAATACA	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C	32911000	T	C	32911000	2	2	69	1	0	0	0	0	0	0	0	1	1508	1567	55	3		3	BRCA2	13	32911000	Silent	SNP	T	TCGA-06-0879-01A-01W-0424-08	3310178	32911000	82258878	49	4525											
ARL11	115761	broad.mit.edu	37	chr13	50204952	50204952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttggtgctggccaacaaGcaggaggcacctgatgcact	9	9	12	11	0	1	1	0	1	1	0	1	2	1	2	2	4	4	4	2	4	2	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:50204952G>A	uc001vdf.2	+	1	704	c.369G>A	c.(367-369)aaG>aaA	p.K123K	ARL11_uc021rjo.1_Silent_p.K123K	NM_138450	NP_612459	Q969Q4	ARL11_HUMAN	Homo sapiens ADP-ribosylation factor-like 11 (ARL11), mRNA.	123					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		TGGCCAACAAGCAGGAGGCAC	0.602													A	50204952	G	A	50204952	2	1	69	1	0	0	0	0	0	0	0	1	930	962	34	2		2	ARL11	13	50204952	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	17293952	50204952	64964926	50	4526											
PROZ	8858	broad.mit.edu	37	chr13	113812987	113812987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggaatggcaggctgcGtcccactgctccagggcctg	5	7	17	12	1	0	0	0	0	0	0	2	1	2	1	3	5	2	3	3	5	1	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr13:113812987G>A	uc001vta.1	+	0	20	c.13G>A	c.(13-15)Gtc>Atc	p.V5I	PROZ_uc010agr.1_Missense_Mutation_p.V5I	NM_003891	NP_003882	P22891	PROZ_HUMAN	Homo sapiens protein Z, vitamin K-dependent plasma glycoprotein (PROZ), transcript variant 2, mRNA.	5					blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	GGCAGGCTGCGTCCCACTGCT	0.657													A	113812987	G	A	113812987	3	1	69	1	0	0	0	0	1	0	0	0	12648	1145	40	1	15	1	PROZ	13	113812987	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	63608035	113812987	1356891	51	4527											
PPP4R4	57718	broad.mit.edu	37	chr14	94703972	94703972	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatgaaggcagcagtgtaCgacttgcagcttttgaaact	11	10	13	7	1	0	2	0	2	0	0	0	4	0	3	0	2	5	5	0	2	3	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr14:94703972C>T	uc001ycs.1	+	7	956	c.802C>T	c.(802-804)Cga>Tga	p.R268*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	268						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CAGCAGTGTACGACTTGCAGC	0.358													T	94703972	C	T	94703972	4	4	69	1	0	0	0	0	0	1	0	0	12487	528	19	1	905	1	PPP4R4	14	94703972	Nonsense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		94703972	12645568	52	4528											
AQR	9716	broad.mit.edu	37	chr15	35166951	35166951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagcgagtgaagagagActgctccatgtttgagtact	14	9	11	7	1	0	4	0	2	0	2	1	6	1	4	1	0	4	3	1	0	4	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr15:35166951A>G	uc001ziv.3	-	28	3533	c.3352T>C	c.(3352-3354)Tct>Cct	p.S1118P		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1118						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GTGAAGAGAGACTGCTCCATG	0.428													G	35166951	A	G	35166951	3	3	69	1	0	0	0	0	1	0	0	0	838	275	10	3	1133	3	AQR	15	35166951	Missense_Mutation	SNP	A	TCGA-06-0879-01A-01W-0424-08		35166951	67364441	53	4529											
KIAA1024	23251	broad.mit.edu	37	chr15	79750063	79750063	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgacattttccgatttcTtgatgacatgagcatcagtg	10	14	9	8	1	2	4	1	4	1	0	3	5	3	4	1	0	1	1	1	0	0	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr15:79750063T>C	uc002bew.1	+	1	1649	c.1574T>C	c.(1573-1575)cTt>cCt	p.L525P	KIAA1024_uc010unk.1_Missense_Mutation_p.L525P	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	525						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TTCCGATTTCTTGATGACATG	0.502													C	79750063	T	C	79750063	3	2	69	1	0	0	0	0	1	0	0	0	8263	1609	56	3	1576	3	KIAA1024	15	79750063	Missense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	44583112	79750063	22781329	54	4530											
SLC7A5	8140	broad.mit.edu	37	chr16	87873313	87873313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggtagcggctcaccacggCcacggcctcggacgacagca	8	3	14	16	6	1	0	1	0	0	0	2	2	1	1	3	5	2	3	3	5	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr16:87873313C>A	uc002fkm.3	-	4	1006	c.934G>T	c.(934-936)Gcc>Tcc	p.A312S		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	312					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CTCACCACGGCCACGGCCTCG	0.652													A	87873313	C	A	87873313	3	1	69	1	0	0	0	0	1	0	0	0	14794	739	26	4	613	4	SLC7A5	16	87873313	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		87873313	2481440	55	4531											
PLSCR3	57048	broad.mit.edu	37	chr17	7296587	7296587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcgccacagcacagaCgggcgcagcagttgctctcc	7	4	15	15	4	1	1	0	0	1	1	2	1	1	1	2	3	3	5	2	3	0	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:7296587C>T	uc002ggn.2	-	4	907	c.383G>A	c.(382-384)cGt>cAt	p.R128H	PLSCR3_uc002ggo.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggm.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggp.2_Intron|PLSCR3_uc002ggq.2_Intron|PLSCR3_uc010cmg.2_Missense_Mutation_p.R128H|PLSCR3_uc002ggr.2_Missense_Mutation_p.R128H	NM_020360	NP_065093	Q9NRY6	PLS3_HUMAN	Homo sapiens phospholipid scramblase 3 (PLSCR3), transcript variant 1, mRNA.	128					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|calcium-dependent protein binding|phospholipid scramblase activity|SH3 domain binding			endometrium(1)|kidney(2)|urinary_tract(1)	4		Prostate(122;0.173)				ACAGCACAGACGGGCGCAGCA	0.716													T	7296587	C	T	7296587	3	4	69	1	0	0	0	0	1	0	0	0	12188	536	19	1	520	1	PLSCR3	17	7296587	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		7296587	73898623	56	4532											
KRT15	3866	broad.mit.edu	37	chr17	39673161	39673161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctcatccaggactcggcGcaagccgttgatgtcagcct	8	8	11	14	3	2	1	2	1	0	0	4	2	3	2	3	2	3	3	3	2	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:39673161G>A	uc002hwy.3	-	2	828	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	KRT15_uc002hwz.3_Missense_Mutation_p.R115C|KRT15_uc002hxa.3_Missense_Mutation_p.R48C|KRT15_uc002hxb.1_Missense_Mutation_p.R48C	NM_002275	NP_002266	P19012	K1C15_HUMAN	Homo sapiens keratin 15 (KRT15), mRNA.	213	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AGGACTCGGCGCAAGCCGTTG	0.592													A	39673161	G	A	39673161	3	1	69	1	0	0	0	0	1	0	0	0	8510	1087	38	1	757	1	KRT15	17	39673161	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	32376574	39673161	41522049	57	4533											
PITPNC1	26207	broad.mit.edu	37	chr17	65528973	65528973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccatgaacagagtgaccGgggagaaggggtggaggtcg	11	4	19	7	2	0	4	0	2	0	2	1	6	0	5	2	6	2	0	2	6	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr17:65528973G>A	uc002jgc.3	+	1	451	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	PITPNC1_uc002jgb.3_Missense_Mutation_p.R35Q	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	Homo sapiens phosphatidylinositol transfer protein, cytoplasmic 1 (PITPNC1), transcript variant 1, mRNA.	35					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			CAGAGTGACCGGGGAGAAGGG	0.532													A	65528973	G	A	65528973	3	1	69	1	0	0	0	0	1	0	0	0	12026	1116	39	1	110	1	PITPNC1	17	65528973	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	25855812	65528973	15666237	58	4534											
ELAVL1	1994	broad.mit.edu	37	chr19	8028639	8028639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccggaggaggcgtttcctgGcacgttgacgccagagagcc	7	6	16	12	4	0	2	0	1	0	1	1	5	1	4	4	4	1	3	4	4	0	2			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:8028639G>A	uc002mjb.3	-	5	876	c.709C>T	c.(709-711)Cca>Tca	p.P237S		NM_001419	NP_001410	Q15717	ELAV1_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 1 (Hu antigen R) (ELAVL1), mRNA.	237					3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCGTTTCCTGGCACGTTGACG	0.632													A	8028639	G	A	8028639	3	1	69	1	0	0	0	0	1	0	0	0	5090	1203	42	2	275	2	ELAVL1	19	8028639	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		8028639	51100344	59	4535											
PDE4A	5141	broad.mit.edu	37	chr19	10574494	10574494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggaacatggtgcactgtgCcgacctcagcaaccccacca	10	5	9	17	2	1	0	1	0	0	0	1	2	1	1	6	2	5	2	6	2	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:10574494C>T	uc002moj.2	+	13	1877	c.1769C>T	c.(1768-1770)gCc>gTc	p.A590V	PDE4A_uc021uow.1_Missense_Mutation_p.A568V|PDE4A_uc002mok.2_Missense_Mutation_p.A564V|PDE4A_uc002mol.2_Missense_Mutation_p.A529V|PDE4A_uc002mom.2_Missense_Mutation_p.A351V|PDE4A_uc002moo.2_Missense_Mutation_p.A256V	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	590	Catalytic.				signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	GTGCACTGTGCCGACCTCAGC	0.617													T	10574494	C	T	10574494	3	4	69	1	0	0	0	0	1	0	0	0	11715	739	26	2	2280	2	PDE4A	19	10574494	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08	2545855	10574494	48554489	60	4536											
ZNF91	7644	broad.mit.edu	37	chr19	23542219	23542219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattttttagtagagaagggGtttcactgtgttagccagga	10	15	12	4	0	1	1	1	0	0	1	1	3	1	2	1	3	1	3	1	3	5	7			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:23542219G>A	uc002nre.3	-	3	3675	c.3562C>T	c.(3562-3564)Ccc>Tcc	p.P1188S	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P1156S	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	1188						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				tagagaaggggtttcactgtg	0.537													A	23542219	G	A	23542219	3	1	69	1	0	0	0	0	1	0	0	0	18299	1261	44	2	17	2	ZNF91	19	23542219	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08	12967725	23542219	35586764	61	4537											
CYP2A13	1553	broad.mit.edu	37	chr19	41597726	41597726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagggctggaggacttcatCgccaagaaggtggagcacaa	13	5	14	9	1	1	1	1	0	0	1	2	4	1	4	1	5	1	2	1	5	4	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:41597726C>T	uc002opt.3	+	4	753	c.744C>T	c.(742-744)atC>atT	p.I248I		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	248					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	AGGACTTCATCGCCAAGAAGG	0.557													T	41597726	C	T	41597726	2	4	69	1	0	0	0	0	0	0	0	1	4194	874	31	1		1	CYP2A13	19	41597726	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	18055507	41597726	17531257	62	4538											
PPP1R12C	54776	broad.mit.edu	37	chr19	55624065	55624065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagccacaggaggcggcCacgtgcagtggcgtccagcc	8	4	16	13	3	0	0	0	0	0	0	1	1	1	1	4	5	3	2	4	5	1	1			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr19:55624065C>T	uc002qix.3	-	1	436	c.420G>A	c.(418-420)gtG>gtA	p.V140V	PPP1R12C_uc010yfs.2_Silent_p.V66V|PPP1R12C_uc002qiy.3_Silent_p.V140V	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	140						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		AGGAGGCGGCCACGTGCAGTG	0.667													T	55624065	C	T	55624065	2	4	69	1	0	0	0	0	0	0	0	1	12438	581	21	2		2	PPP1R12C	19	55624065	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08	14026339	55624065	3504918	63	4539											
PREX1	57580	broad.mit.edu	37	chr20	47309262	47309262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcagtgttgattcgaccCctgaagatgtagagggagcc	10	10	12	9	1	1	4	1	2	0	2	2	6	1	5	3	1	1	2	3	1	2	4			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr20:47309262C>T	uc002xtw.1	-	7	1007	c.984G>A	c.(982-984)agG>agA	p.R328R		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	328	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGATTCGACCCCTGAAGATGT	0.572													T	47309262	C	T	47309262	2	4	69	1	0	0	0	0	0	0	0	1	12562	622	22	2		2	PREX1	20	47309262	Silent	SNP	C	TCGA-06-0879-01A-01W-0424-08		47309262	15716258	64	4540											
TPTE	7179	broad.mit.edu	37	chr21	10906987	10906987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatctgatggataaattCtccgtgctttttgtttatgt	10	18	7	6	1	2	1	0	1	2	0	3	2	2	2	1	1	1	2	1	1	5	6			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr21:10906987C>A	uc002yip.1	-	23	1942	c.1574G>T	c.(1573-1575)aGa>aTa	p.R525I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R507I|TPTE_uc002yir.1_Missense_Mutation_p.R487I|TPTE_uc010gkv.1_Missense_Mutation_p.R387I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	525	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T524I(1)|p.T524S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGGATAAATTCTCCGTGCTTT	0.358													A	10906987	C	A	10906987	3	1	69	1	0	0	0	0	1	0	0	0	16531	913	32	4	85	4	TPTE	21	10906987	Missense_Mutation	SNP	C	TCGA-06-0879-01A-01W-0424-08		10906987	37222908	65	4541											
B3GALT5	10317	broad.mit.edu	37	chr21	41033203	41033203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagagcgtcccatacatTaaactggaagacgtgtttgt	12	11	9	9	2	0	2	0	0	0	2	2	3	2	3	2	1	3	1	2	1	5	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr21:41033203T>G	uc021wjj.1	+	0	717	c.717T>G	c.(715-717)atT>atG	p.I239M	B3GALT5_uc002yyb.1_Missense_Mutation_p.I239M|B3GALT5_uc002yye.2_Missense_Mutation_p.I239M|B3GALT5_uc002yyi.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyj.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyk.1_Missense_Mutation_p.I239M|B3GALT5_uc002yyl.1_Missense_Mutation_p.I239M|B3GALT5_uc002yym.1_Missense_Mutation_p.I239M	NM_033173	NP_149363	Q9Y2C3	B3GT5_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5 (B3GALT5), transcript variant 5, mRNA.	239					protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCCATACATTAAACTGGAAG	0.562													G	41033203	T	G	41033203	3	3	69	1	0	0	0	0	1	0	0	0	1255	1742	61	5	719	5	B3GALT5	21	41033203	Missense_Mutation	SNP	T	TCGA-06-0879-01A-01W-0424-08	30126216	41033203	7096692	66	4542											
SLC35E4	339665	broad.mit.edu	37	chr22	31032455	31032455	+	Frame_Shift_Del	DEL	G	G	-																															cggatgtgccgctgcccgccGgagcaccatgatggcaggat																										TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr22:31032455delG	uc003ais.1	+	0	663	c.18delG	c.(16-18)ccgfs	p.P6fs	SLC35E4_uc003ait.3_5'UTR	NM_001001479	NP_001001479	Q6ICL7	S35E4_HUMAN	Homo sapiens solute carrier family 35, member E4 (SLC35E4), mRNA.	6						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						GCTGCCCGCCGGAGCACCATG	0.701													-	31032455	G	-	31032455	7	5	69	1	0	1	0	1	0	0	0	0	14681	1103	39	0	20	0	SLC35E4	22	31032455	Frame_Shift_Del	DEL	G	TCGA-06-0879-01A-01W-0424-08		31032455	20272111	67	4543											
GTSE1	51512	broad.mit.edu	37	chr22	46708130	46708130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgacaaacctgccccGggtgctgtcaatgtgccggc	6	8	11	16	2	1	1	1	1	0	0	2	1	2	1	5	2	4	1	5	2	2	0			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chr22:46708130G>A	uc011aqy.2	+	4	1067	c.855G>A	c.(853-855)ccG>ccA	p.P285P	GTSE1_uc011aqz.2_Silent_p.P132P	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	266					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AACCTGCCCCGGGTGCTGTCA	0.577													A	46708130	G	A	46708130	2	1	69	1	0	0	0	0	0	0	0	1	6940	1103	39	1		1	GTSE1	22	46708130	Silent	SNP	G	TCGA-06-0879-01A-01W-0424-08	15675675	46708130	4596436	68	4544											
AFF2	2334	broad.mit.edu	37	chrX	148072810	148072810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatgaccaatcttgtccGctacgttcgccaaggactgt	9	10	9	13	3	1	1	0	1	1	0	3	2	2	2	3	1	2	3	3	1	3	3			TCGA-06-0879-01A-01W-0424-08	TCGA-06-0879-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f96b8966-e0c2-4fb6-b3f6-e76d7953d537	d7f78904-a226-488c-aff8-cbbd2d13882d	g.chrX:148072810G>A	uc004fcp.3	+	20	4363	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	AFF2_uc004fcq.3_Missense_Mutation_p.R1285H|AFF2_uc004fcr.3_Missense_Mutation_p.R1256H|AFF2_uc011mxb.2_Missense_Mutation_p.R1260H|AFF2_uc004fcs.3_Missense_Mutation_p.R1260H|AFF2_uc011mxc.2_Missense_Mutation_p.R936H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1295					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.V1294D(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTTGTCCGCTACGTTCGC	0.527													A	148072810	G	A	148072810	3	1	69	1	0	0	0	0	1	0	0	0	357	1087	38	1	4021	1	AFF2	23	148072810	Missense_Mutation	SNP	G	TCGA-06-0879-01A-01W-0424-08		148072810	7197750	69	4545											
EXTL1	2134	broad.mit.edu	37	chr1	26360290	26360290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtggctggggctacaCtgctgagaggaccaacgaat	10	7	14	10	1	0	1	0	1	0	1	0	4	0	2	2	5	3	3	2	5	3	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:26360290C>T	uc001blf.3	+	8	2489	c.1622C>T	c.(1621-1623)aCt>aTt	p.T541I		NM_004455	NP_004446	Q92935	EXTL1_HUMAN	Homo sapiens exostoses (multiple)-like 1 (EXTL1), mRNA.	541					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGGCTACACTGCTGAGAGG	0.577													T	26360290	C	T	26360290	3	4	70	1	0	0	0	0	1	0	0	0	5367	565	20	2	1656	2	EXTL1	1	26360290	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		26360290	222890331	1	4546											
COL24A1	255631	broad.mit.edu	37	chr1	86590905	86590905	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgatattgtcagacatgtTtaggagagagctaaatttct	12	15	10	4	0	2	3	1	1	1	2	2	5	2	4	0	1	1	2	0	1	4	6			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:86590905T>G	uc001dlj.3	-	2	1189	c.1114A>C	c.(1114-1116)Aac>Cac	p.N372H	COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_5'UTR|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript|COL24A1_uc009wcq.3_Missense_Mutation_p.N372H	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	372					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TCAGACATGTTTAGGAGAGAG	0.378													G	86590905	T	G	86590905	3	3	70	1	0	0	0	0	1	0	0	0	3714	1841	64	5	4262	5	COL24A1	1	86590905	Missense_Mutation	SNP	T	TCGA-06-0881-01A-02W-0424-08	60230615	86590905	162659716	2	4547											
OR2G2	81470	broad.mit.edu	37	chr1	247751819	247751819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcattctggtttctcGtctggaacccaagcttcata	9	13	6	13	1	5	0	2	0	3	0	6	1	5	1	2	2	2	2	2	2	3	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr1:247751819G>A	uc010pyy.2	+	0	158	c.158G>A	c.(157-159)cGt>cAt	p.R53H		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CTGGTTTCTCGTCTGGAACCC	0.418													A	247751819	G	A	247751819	3	1	70	1	0	0	0	0	1	0	0	0	11074	1145	40	1	160	1	OR2G2	1	247751819	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	161160914	247751819	1498802	3	4548											
SCN9A	6335	broad.mit.edu	37	chr2	167141062	167141062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccagggagaccacaccGttgcagtccacagcactgtg	11	6	10	14	1	1	1	1	0	0	1	2	2	2	1	4	1	3	3	4	1	1	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:167141062G>A	uc010fpl.3	-	11	2216	c.1875C>T	c.(1873-1875)aaC>aaT	p.N625N	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Silent_p.N496N|SCN9A_uc002uds.1_Silent_p.N496N|SCN9A_uc002udt.1_Silent_p.N496N	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	625						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.N625N(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AGACCACACCGTTGCAGTCCA	0.562													A	167141062	G	A	167141062	2	1	70	1	0	0	0	0	0	0	0	1	14018	1136	40	1		1	SCN9A	2	167141062	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08		167141062	76058311	4	4549											
TTN	7273	broad.mit.edu	37	chr2	179438641	179438641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatttctaactttgctGtgccttccagctcttttcca	5	21	4	11	0	2	0	0	0	2	0	4	0	4	0	3	0	4	2	3	0	2	9			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179438641G>C	uc021vsy.1	-	274	64739	c.64514C>G	c.(64513-64515)aCa>aGa	p.T21505R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T15200R|TTN_uc021vta.1_Missense_Mutation_p.T15133R|TTN_uc021vtb.1_Missense_Mutation_p.T15008R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22432	Fibronectin type-III 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACTTTGCTGTGCCTTCCAG	0.413													C	179438641	G	C	179438641	3	2	70	1	0	0	0	0	1	0	0	0	16837	1377	48	4	35909	4	TTN	2	179438641	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	12297579	179438641	63760732	5	4550											
TTN	7273	broad.mit.edu	37	chr2	179615121	179615121	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgaacagatgaaagAgttaatattgaatagttttc	16	14	9	2	0	0	7	0	5	0	2	1	7	0	7	0	0	1	2	0	0	6	6			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179615121A>G	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_5'Flank|TTN_uc002unb.2_Silent_p.T4002T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGATGAAAGAGTTAATATTG	0.333													G	179615121	A	G	179615121	2	3	70	1	0	0	0	0	0	0	0	1	16837	291	11	3		3	TTN	2	179615121	Silent	SNP	A	TCGA-06-0881-01A-02W-0424-08	176480	179615121	63584252	6	4551											
TTN	7273	broad.mit.edu	37	chr2	179647637	179647637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttcgcgaatcataagaCgagcaattccactctggaag	13	9	9	10	3	2	1	1	0	1	1	4	4	3	2	1	1	2	2	1	1	4	3			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:179647637C>T	uc021vsy.1	-	17	3221	c.2996G>A	c.(2995-2997)cGt>cAt	p.R999H	TTN_uc021vsz.1_Missense_Mutation_p.R953H|TTN_uc021vta.1_Missense_Mutation_p.R953H|TTN_uc021vtb.1_Missense_Mutation_p.R953H|TTN_uc002unb.2_Missense_Mutation_p.R999H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	999	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A998D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATCATAAGACGAGCAATTCC	0.493													T	179647637	C	T	179647637	3	4	70	1	0	0	0	0	1	0	0	0	16837	536	19	1	108372	1	TTN	2	179647637	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	32516	179647637	63551736	7	4552											
COL6A3	1293	broad.mit.edu	37	chr2	238245018	238245018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggggccggctttgcagCggctggcttcacagatggct	5	8	16	12	3	1	1	1	0	0	1	1	1	1	1	1	6	2	6	1	6	0	2			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr2:238245018C>T	uc002vwl.2	-	39	9010	c.8725G>A	c.(8725-8727)Gct>Act	p.A2909T	COL6A3_uc002vwo.2_Missense_Mutation_p.A2703T|COL6A3_uc010znj.1_Missense_Mutation_p.A2302T|COL6A3_uc002vwj.2_Missense_Mutation_p.A290T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2909	Ala-rich.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGCTTTGCAGCGGCTGGCTTC	0.582													T	238245018	C	T	238245018	3	4	70	1	0	0	0	0	1	0	0	0	3732	768	27	1	828	1	COL6A3	2	238245018	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	58597381	238245018	4954355	8	4553											
DAG1	1605	broad.mit.edu	37	chr3	49570453	49570453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaccccaaccagagtgtgCccgagaccactcctctgaac	11	6	8	16	1	1	3	0	1	1	2	2	4	2	3	6	0	4	1	6	0	3	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr3:49570453C>T	uc021wxz.1	+	2	2978	c.2509C>T	c.(2509-2511)Ccc>Tcc	p.P837S	DAG1_uc021wya.1_Missense_Mutation_p.P837S|DAG1_uc021wyb.1_Missense_Mutation_p.P837S|DAG1_uc021wyc.1_Missense_Mutation_p.P837S|DAG1_uc021wyd.1_Missense_Mutation_p.P837S|DAG1_uc021wye.1_Missense_Mutation_p.P837S|DAG1_uc021wyf.1_Missense_Mutation_p.P837S|DAG1_uc021wyg.1_Missense_Mutation_p.P837S|DAG1_uc021wyh.1_Missense_Mutation_p.P837S|DAG1_uc021wyi.1_Missense_Mutation_p.P837S|DAG1_uc021wyj.1_Missense_Mutation_p.P837S|DAG1_uc021wyk.1_Missense_Mutation_p.P837S|DAG1_uc003cxc.4_Missense_Mutation_p.P837S	NM_001177643	NP_001171114	Q14118	DAG1_HUMAN	Homo sapiens dystroglycan 1 (dystrophin-associated glycoprotein 1) (DAG1), transcript variant 12, mRNA.	837	Pro-rich.|Required for interaction with CAV3.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGAGTGTGCCCGAGACCAC	0.637													T	49570453	C	T	49570453	3	4	70	1	0	0	0	0	1	0	0	0	4259	739	26	2	2515	2	DAG1	3	49570453	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		49570453	148451977	9	4554											
ANKRD17	26057	broad.mit.edu	37	chr4	73962983	73962983	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccttcactgatagtttcTgacaatctttaacaaagaga	13	13	6	9	0	3	3	1	2	2	1	4	4	4	3	1	0	1	1	1	0	4	5			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:73962983T>G	uc003hgp.3	-	26	5145	c.5028A>C	c.(5026-5028)tcA>tcC	p.S1676S	ANKRD17_uc003hgo.3_Silent_p.S1563S|ANKRD17_uc003hgq.3_Silent_p.S1425S|ANKRD17_uc003hgr.3_Silent_p.S1675S	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1676	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	p.L1675L(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATAGTTTCTGACAATCTTT	0.333													G	73962983	T	G	73962983	2	3	70	1	0	0	0	0	0	0	0	1	646	1567	55	5		5	ANKRD17	4	73962983	Silent	SNP	T	TCGA-06-0881-01A-02W-0424-08		73962983	117191293	10	4555											
FGA	2243	broad.mit.edu	37	chr4	155506815	155506815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtggagtctcctctgttgTaactcgtgctactagtaaat	9	15	9	8	1	2	0	0	0	2	0	4	1	2	1	1	1	3	4	1	1	5	5			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr4:155506815T>C	uc003iod.1	-	4	1824	c.1766A>G	c.(1765-1767)tAc>tGc	p.Y589C	FGA_uc003ioe.1_Missense_Mutation_p.Y589C|FGA_uc003iof.1_3'UTR	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	589					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCCTCTGTTGTAACTCGTGCT	0.443													C	155506815	T	C	155506815	3	2	70	1	0	0	0	0	1	0	0	0	5879	1638	57	3	886	3	FGA	4	155506815	Missense_Mutation	SNP	T	TCGA-06-0881-01A-02W-0424-08	81543832	155506815	35647461	11	4556											
CDH18	1016	broad.mit.edu	37	chr5	19520824	19520825	+	Missense_Mutation	DNP	GG	GG	AC																															attccctggcaagttcgggtGgattgtcattgacatccaga																										TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:19520824_19520825GG>AC	uc003jgd.3	-	9	1987_1988	c.1453_1454CC>GT	c.(1453-1455)cca>GTa	p.P485V	CDH18_uc011cnm.2_Missense_Mutation_p.P485V|CDH18_uc003jgc.3_Missense_Mutation_p.P485V|CDH18_uc021xwu.1_Missense_Mutation_p.P485V	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	485	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AAGTTCGGGTGGATTGTCATTG	0.381													AC	19520825	GG	AC	19520824	3	1	70	1	0	0	0	0	1	0	0	0	3133	1348	47	2	934	2	CDH18	5	19520824	Missense_Mutation	DNP	GG	TCGA-06-0881-01A-02W-0424-08		19520824	161394436	12	4557											
PCDHB16	57717	broad.mit.edu	37	chr5	140563145	140563145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcactcttctcctgcaggtGgtggacgtgaatgacaatcc	8	11	11	11	1	2	2	0	2	2	0	4	3	3	3	2	3	2	2	2	3	2	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140563145G>T	uc003liv.3	+	0	2166	c.1011G>T	c.(1009-1011)gtG>gtT	p.V337V		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	337	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCTGCAGGTGGTGGACGTGA	0.502													T	140563145	G	T	140563145	2	4	70	1	0	0	0	0	0	0	0	1	11617	1335	47	4		4	PCDHB16	5	140563145	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	121042321	140563145	40352115	13	4558											
PCDHGC5	56113	broad.mit.edu	37	chr5	140720392	140720392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgagccgggactcttctcGgtgggtctgcacacgggcga	6	7	16	12	5	3	0	0	0	3	0	4	3	3	1	1	4	3	1	1	4	0	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr5:140720392G>A	uc003ljk.2	+	0	2039	c.1854G>A	c.(1852-1854)tcG>tcA	p.S618S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.S618S	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	620	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACTCTTCTCGGTGGGTCTGC	0.677													A	140720392	G	A	140720392	2	1	70	1	0	0	0	0	0	0	0	1	11647	1103	39	1		1	PCDHGC5	5	140720392	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	157247	140720392	40194868	14	4559											
TUBB	203068	broad.mit.edu	37	chr6	30690337	30690337	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaggtgatcagtgatgaAcatggcatcgaccccaccgg	10	7	14	10	2	1	3	1	3	0	0	2	5	1	4	3	4	1	1	3	4	1	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30690337A>G	uc003nrl.3	+	1	208	c.81A>G	c.(79-81)gaA>gaG	p.E27E	TUBB_uc011dmq.2_5'UTR	NM_178014	NP_821133	P07437	TBB5_HUMAN	Homo sapiens tubulin, beta class I (TUBB), mRNA.	27					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TCAGTGATGAACATGGCATCG	0.562													G	30690337	A	G	30690337	2	3	70	1	0	0	0	0	0	0	0	1	16854	40	2	3		3	TUBB	6	30690337	Silent	SNP	A	TCGA-06-0881-01A-02W-0424-08		30690337	140424730	15	4560											
DPCR1	135656	broad.mit.edu	37	chr6	30919762	30919762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacacccagaaaagaccaCgtcaaccacagagaaaacca	21	1	6	13	1	1	4	1	0	0	4	1	5	1	4	4	0	3	0	4	0	6	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr6:30919762C>T	uc003nsg.2	+	1	3521	c.3521C>T	c.(3520-3522)aCg>aTg	p.T1174M		NM_080870	NP_543146	Q3MIW9	DPCR1_HUMAN	Homo sapiens diffuse panbronchiolitis critical region 1 (DPCR1), mRNA.	305						integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)	10						GAAAAGACCACGTCAACCACA	0.468													T	30919762	C	T	30919762	3	4	70	1	0	0	0	0	1	0	0	0	4751	536	19	1	3527	1	DPCR1	6	30919762	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	229425	30919762	140195305	16	4561											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	70	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		55221822	103916841	17	4562											
RSBN1L	222194	broad.mit.edu	37	chr7	77378833	77378833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacaaagagaatgaaaaaCggaagcgtccgaaaatgtat	21	5	9	6	3	0	2	0	1	0	1	1	5	1	3	1	1	3	1	1	1	9	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:77378833C>T	uc010ldt.1	+	2	840	c.796C>T	c.(796-798)Cgg>Tgg	p.R266W		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	266	Lys-rich.					nucleus		p.R266L(1)		central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GAATGAAAAACGGAAGCGTCC	0.353													T	77378833	C	T	77378833	3	4	70	1	0	0	0	0	1	0	0	0	13788	527	19	1	806	1	RSBN1L	7	77378833	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	22157011	77378833	81759830	18	4563											
SEMA3E	9723	broad.mit.edu	37	chr7	82997239	82997239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggtgattttacggaccGtatggacaaagctatgctct	11	11	10	9	2	1	1	0	1	1	0	1	3	1	3	2	3	3	3	2	3	5	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr7:82997239G>A	uc003uhy.2	-	16	2612	c.1991C>T	c.(1990-1992)aCg>aTg	p.T664M	SEMA3E_uc022agy.1_Missense_Mutation_p.T604M	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	664	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTTACGGACCGTATGGACAAA	0.458													A	82997239	G	A	82997239	3	1	70	1	0	0	0	0	1	0	0	0	14121	1145	40	1	340	1	SEMA3E	7	82997239	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	5618406	82997239	76141424	19	4564											
MYOM2	9172	broad.mit.edu	37	chr8	2040299	2040299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggactgctgtgtggccGgaaccaacctctgggagccc	7	7	14	13	2	1	0	0	0	1	0	1	3	1	3	4	4	4	1	4	4	2	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2040299G>A	uc003wpx.4	+	15	2092	c.1954G>A	c.(1954-1956)Gga>Aga	p.G652R	MYOM2_uc011kwi.2_Missense_Mutation_p.G77R	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	652	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGTGTGGCCGGAACCAACCT	0.607													A	2040299	G	A	2040299	3	1	70	1	0	0	0	0	1	0	0	0	10168	1117	39	1	2012	1	MYOM2	8	2040299	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08		2040299	144323723	20	4565											
CSMD1	64478	broad.mit.edu	37	chr8	2855644	2855644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcacgacatcattcaGgttgaactcactgccattag	13	11	7	10	1	4	1	4	1	0	0	4	3	4	1	1	1	2	1	1	1	3	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:2855644G>C	uc022aqr.1	-	53	8656	c.8266C>G	c.(8266-8268)Ctg>Gtg	p.L2756V	CSMD1_uc011kwj.2_Missense_Mutation_p.L2086V|CSMD1_uc010lrg.3_Missense_Mutation_p.L767V	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2757	Sushi 19.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACATCATTCAGGTTGAACTCA	0.527													C	2855644	G	C	2855644	3	2	70	1	0	0	0	0	1	0	0	0	3977	991	35	4	2496	4	CSMD1	8	2855644	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	815345	2855644	143508378	21	4566											
CDH17	1015	broad.mit.edu	37	chr8	95188833	95188833	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaacgtgggtcgattgtcGttgatgtccttcacttttat	8	16	10	7	3	1	2	1	1	0	1	4	3	2	2	1	1	1	1	1	1	2	5	rs148638200	byFrequency	TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr8:95188833G>A	uc003ygh.2	-	4	485	c.360C>T	c.(358-360)aaC>aaT	p.N120N	CDH17_uc011lgo.1_Silent_p.N120N|CDH17_uc011lgp.1_Silent_p.N120N	NM_004063	NP_004054	Q12864	CAD17_HUMAN	Homo sapiens cadherin 17, LI cadherin (liver-intestine) (CDH17), transcript variant 1, mRNA.	120	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCGATTGTCGTTGATGTCCT	0.483													A	95188833	G	A	95188833	2	1	70	1	0	0	0	0	0	0	0	1	3132	1136	40	1		1	CDH17	8	95188833	Silent	SNP	G	TCGA-06-0881-01A-02W-0424-08	92333189	95188833	51175189	22	4567											
FAM75C1	441452	broad.mit.edu	37	chr9	90536517	90536517	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttgaggagtgactcAggaagtgatttattaagacg	13	10	12	6	1	1	4	1	3	0	1	1	6	1	6	1	2	1	0	1	2	4	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:90536517A>T	uc010mqi.3	+	3	1724	c.1695A>T	c.(1693-1695)tcA>tcT	p.S565S	FAM75C1_uc004apq.4_Silent_p.S548S	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GGAGTGACTCAGGAAGTGATT	0.507													T	90536517	A	T	90536517	2	4	70	1	0	0	0	0	0	0	0	1	5673	175	7	5		5	FAM75C1	9	90536517	Silent	SNP	A	TCGA-06-0881-01A-02W-0424-08		90536517	50676914	23	4568											
OR13C4	138804	broad.mit.edu	37	chr9	107288808	107288808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcctgtggccgagttcGttcgcaagatggtgtagagg	6	12	15	8	3	1	2	0	0	1	2	4	3	2	2	2	3	0	4	2	3	2	4	rs139144967		TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr9:107288808G>A	uc011lvn.2	-	0	683	c.683C>T	c.(682-684)aCg>aTg	p.T228M		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGCCGAGTTCGTTCGCAAGAT	0.403													A	107288808	G	A	107288808	3	1	70	1	0	0	0	0	1	0	0	0	11012	1145	40	1	275	1	OR13C4	9	107288808	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08	16752291	107288808	33924623	24	4569											
PTEN	5728	broad.mit.edu	37	chr10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttatcaaacccttttGtgaagatcttgaccaatggc	13	12	7	9	0	2	4	1	2	1	2	2	4	2	4	2	1	2	0	2	1	5	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr10:89692830G>A	uc001kfb.3	+	4	1346	c.314G>A	c.(313-315)tGt>tAt	p.C105Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(12)|p.C105S(6)|p.?(5)|p.R55fs*1(5)|p.C105Y(4)|p.C105W(4)|p.C105fs*2(2)|p.Y27fs*1(2)|p.C105fs*1(2)|p.Y27_N212>Y(2)|p.C105G(1)|p.C105R(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692830	G	A	89692830	3	1	70	1	0	0	0	0	1	0	0	0	12823	1377	48	2	332	2	PTEN	10	89692830	Missense_Mutation	SNP	G	TCGA-06-0881-01A-02W-0424-08		89692830	45841917	25	4570											
DNAH3	55567	broad.mit.edu	37	chr16	20994175	20994175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagggaacatccgcaggCggttcctgaaggcatcccct	9	6	13	13	3	0	1	0	1	0	0	3	3	3	2	4	4	1	3	4	4	3	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:20994175C>T	uc010vbe.2	-	48	7727	c.7727G>A	c.(7726-7728)cGc>cAc	p.R2576H	DNAH3_uc010vbd.2_Missense_Mutation_p.R11H	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2576	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2576H(3)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCCGCAGGCGGTTCCTGAA	0.507													T	20994175	C	T	20994175	3	4	70	1	0	0	0	0	1	0	0	0	4642	768	27	1	4678	1	DNAH3	16	20994175	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08		20994175	69360578	26	4571											
CDH8	1006	broad.mit.edu	37	chr16	61687974	61687974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaatggttcatttttatgCcgccgtagagttacaaacag	12	14	8	7	2	1	1	1	0	0	1	1	1	1	1	2	1	3	3	2	1	5	7			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr16:61687974C>T	uc002eog.2	-	11	2893	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388													T	61687974	C	T	61687974	2	4	70	1	0	0	0	0	0	0	0	1	3146	726	26	2		2	CDH8	16	61687974	Silent	SNP	C	TCGA-06-0881-01A-02W-0424-08	40693799	61687974	28666779	27	4572											
FXR2	9513	broad.mit.edu	37	chr17	7507356	7507357	+	Frame_Shift_Ins	INS	-	-	C																															atcatccgcacccgggccagINSccaccagccacaaggttcct																										TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:7507356_7507357insC	uc002gia.2	-	3	635_636	c.270_271insG	c.(268-273)tggctgfs	p.W90fs		NM_004860	NP_004851	P51116	FXR2_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 2 (FXR2), mRNA.	90						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		ACCCGGGCCAGCCACCAGCCAC	0.441													C	7507357	-	C	7507356	7	5	70	1	0	1	1	0	0	0	0	0	6168	962	34	0	1706	0	FXR2	17	7507356	Frame_Shift_Ins	INS	-	TCGA-06-0881-01A-02W-0424-08		7507356	73687854	28	4573											
MYH3	4621	broad.mit.edu	37	chr17	10537429	10537429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagctcagtgctcaaggagCgggactccttcagggatgcc	9	7	14	11	1	3	1	3	0	0	1	4	4	4	4	2	3	4	2	2	3	1	1			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:10537429C>T	uc002gmq.2	-	31	4515	c.4427G>A	c.(4426-4428)cGc>cAc	p.R1476H		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1476					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCTCAAGGAGCGGGACTCCTT	0.493													T	10537429	C	T	10537429	3	4	70	1	0	0	0	0	1	0	0	0	10112	768	27	1	1435	1	MYH3	17	10537429	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	3030073	10537429	70657781	29	4574											
CCDC47	57003	broad.mit.edu	37	chr17	61830101	61830101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggacccagaatacttacCattaaatgtaaacaacagtg	19	8	6	8	0	0	1	0	0	0	1	0	2	0	2	2	1	4	1	2	1	9	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr17:61830101C>T	uc002jbs.4	-	10	1429	c.1093_splice	c.e10+1	p.V365_splice	CCDC47_uc010ddx.3_Splice_Site_p.V365_splice|CCDC47_uc002jbt.2_Splice_Site_p.V365_splice	NM_020198	NP_064583	Q96A33	CCD47_HUMAN	Homo sapiens coiled-coil domain containing 47 (CCDC47), mRNA.	365						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						GAATACTTACCATTAAATGTA	0.373											OREG0031500	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	61830101	C	T	61830101	3	4	70	1	0	0	0	0	1	0	0	0	2846	608	21	2	374	2	CCDC47	17	61830101	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	51292672	61830101	19365109	30	4575											
FCGBP	8857	broad.mit.edu	37	chr19	40376323	40376323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcctacctcatagtagAcaccattgtggtagcagcca	11	10	9	11	0	1	1	1	0	0	1	2	1	2	1	4	2	3	4	4	2	4	6			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:40376323A>G	uc002omp.4	-	24	11989	c.11981T>C	c.(11980-11982)gTc>gCc	p.V3994A		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3994	Cys-rich.					extracellular region	protein binding	p.V3994A(6)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTCATAGTAGACACCATTGTG	0.562													G	40376323	A	G	40376323	3	3	70	1	0	0	0	0	1	0	0	0	5827	275	10	3	4284	3	FCGBP	19	40376323	Missense_Mutation	SNP	A	TCGA-06-0881-01A-02W-0424-08		40376323	18752660	31	4576											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960862	51960862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggcccggggaggacaCggaggccccaatccaggaga	10	2	18	11	2	0	1	0	0	0	1	1	5	1	4	4	8	0	0	4	8	1	0			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:51960862C>T	uc002pwt.3	-	1	653	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	196	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGGGAGGACACGGAGGCCCCA	0.657													T	51960862	C	T	51960862	3	4	70	1	0	0	0	0	1	0	0	0	14408	536	19	1	937	1	SIGLEC8	19	51960862	Missense_Mutation	SNP	C	TCGA-06-0881-01A-02W-0424-08	11584539	51960862	7168121	32	4577											
NLRP8	126205	broad.mit.edu	37	chr19	56459235	56459235	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatcggttgtctttatcGtggacactgaggtgttctct	6	16	10	9	2	2	1	0	1	2	0	6	2	3	2	1	3	0	2	1	3	2	4			TCGA-06-0881-01A-02W-0424-08	TCGA-06-0881-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1069a9d0-9978-4c01-8516-947200264314	8abdb9fd-4a21-4289-932e-1b69c4bb9f1a	g.chr19:56459235G>A	uc002qmh.3	+	0					NLRP8_uc010etg.3_5'UTR	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.							cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGTCTTTATCGTGGACACTGA	0.448													A	56459235	G	A	56459235	1	1	70	1	0	0	0	0	0	0	0	0	10559	1160	40	1		1	NLRP8	19	56459235	Translation_Start_Site	SNP	G	TCGA-06-0881-01A-02W-0424-08	4498373	56459235	2669748	33	4578											
C1orf177	163747	broad.mit.edu	37	chr1	55280638	55280638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaagaaatgcaaacccGtcaaccagcccccattcctg	15	5	7	14	1	1	2	1	0	0	2	2	3	2	2	5	0	4	1	5	0	5	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:55280638G>A	uc001cyb.4	+	7	1030	c.976G>A	c.(976-978)Gtc>Atc	p.V326I	C1orf177_uc001cya.4_Missense_Mutation_p.V326I	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	326								p.P325P(1)		breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ATGCAAACCCGTCAACCAGCC	0.552													A	55280638	G	A	55280638	3	1	71	1	0	0	0	0	1	0	0	0	2037	1145	40	1	1006	1	C1orf177	1	55280638	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		55280638	193969983	1	4579											
FCRL4	83417	broad.mit.edu	37	chr1	157551332	157551332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaaacctgacttcctcCgacgccagcagtgaaacagc	13	5	8	15	2	0	2	0	2	0	0	2	3	2	2	4	0	5	2	4	0	2	1	rs150354637		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:157551332C>T	uc001fqw.3	-	6	1374	c.1238G>A	c.(1237-1239)cGg>cAg	p.R413Q	FCRL4_uc010phy.2_Non-coding_Transcript	NM_031282	NP_112572	Q96PJ5	FCRL4_HUMAN	Homo sapiens Fc receptor-like 4 (FCRL4), mRNA.	413						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				TGACTTCCTCCGACGCCAGCA	0.602													T	157551332	C	T	157551332	3	4	71	1	0	0	0	0	1	0	0	0	5846	652	23	1	333	1	FCRL4	1	157551332	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	102270694	157551332	91699289	2	4580											
PAPPA2	60676	broad.mit.edu	37	chr1	176661413	176661413	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaccaacaagtccctcacTatccactggctgcctcctat	10	9	5	17	0	1	1	1	0	0	1	4	1	4	1	5	1	2	1	5	1	4	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:176661413T>C	uc001gkz.3	+	5	3747	c.2583T>C	c.(2581-2583)acT>acC	p.T861T	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	861					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						AGTCCCTCACTATCCACTGGC	0.502													C	176661413	T	C	176661413	2	2	71	1	0	0	0	0	0	0	0	1	11509	1509	53	3		3	PAPPA2	1	176661413	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	19110081	176661413	72589208	3	4581											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220335581	220335581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagaaaatcttttaactaAgaacgtattccacatcatca	17	11	4	9	1	3	2	2	0	1	2	4	2	4	2	1	0	3	2	1	0	6	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr1:220335581A>C	uc010puk.1	-	27	3348	c.3184T>G	c.(3184-3186)Tta>Gta	p.L1062V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.L1062V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.L642V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1062					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CTTTTAACTAAGAACGTATTC	0.284													C	220335581	A	C	220335581	3	2	71	1	0	0	0	0	1	0	0	0	13024	69	3	5	1029	5	RAB3GAP2	1	220335581	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08	43674168	220335581	28915040	4	4582											
OTOF	9381	broad.mit.edu	37	chr2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaggcggcagcctgcgCgggggatgtcctcccagtgc	5	5	16	15	3	0	0	0	0	0	0	2	1	2	1	4	4	3	2	4	4	0	0	rs143889717		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:26686908C>T	uc002rhk.3	-	39	5154	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_uc010yla.2_Missense_Mutation_p.R406H|OTOF_uc002rhh.3_Missense_Mutation_p.R909H|OTOF_uc002rhi.3_Missense_Mutation_p.R986H|OTOF_uc002rhj.3_Missense_Mutation_p.R909H	NM_194248	NP_919224	Q9HC10	OTOF_HUMAN	Homo sapiens otoferlin (OTOF), transcript variant 1, mRNA.	1676					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667													T	26686908	C	T	26686908	3	4	71	1	0	0	0	0	1	0	0	0	11379	768	27	1	1179	1	OTOF	2	26686908	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		26686908	216512465	5	4583											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:179463526C>T	uc021vsy.1	-	239	49432	c.49207G>A	c.(49207-49209)Gtg>Atg	p.V16403M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10098M|TTN_uc021vta.1_Missense_Mutation_p.V10031M|TTN_uc021vtb.1_Missense_Mutation_p.V9906M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17330	Ig-like 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428													T	179463526	C	T	179463526	3	4	71	1	0	0	0	0	1	0	0	0	16837	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	152776618	179463526	63735847	6	4584											
CPS1	1373	broad.mit.edu	37	chr2	211469880	211469880	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcagtgacaggttggaaaGaaatagaatatgaagtggtt	16	10	13	2	0	1	4	1	2	0	2	1	5	1	5	0	3	0	2	0	3	6	4			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:211469880G>C	uc010fur.3	+	17	1991	c.1909G>C	c.(1909-1911)Gaa>Caa	p.E637Q	CPS1_uc002vee.4_Missense_Mutation_p.E631Q|CPS1_uc010fus.3_Missense_Mutation_p.E180Q	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	631	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		AGGTTGGAAAGAAATAGAATA	0.408													C	211469880	G	C	211469880	3	2	71	1	0	0	0	0	1	0	0	0	3854	943	33	4	1979	4	CPS1	2	211469880	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	32006354	211469880	31729493	7	4585											
COL4A4	1286	broad.mit.edu	37	chr2	227917071	227917071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtccaggttccccaggtGttcccttttgtgaaatgata	8	13	11	9	0	0	2	0	2	0	0	3	3	3	2	4	3	0	2	4	3	2	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr2:227917071G>A	uc021vxr.1	-	30	3019	c.2918C>T	c.(2917-2919)aCa>aTa	p.T973I	COL4A4_uc021vxs.1_Missense_Mutation_p.T973I	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	973	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTCCCCAGGTGTTCCCTTTTG	0.403													A	227917071	G	A	227917071	3	1	71	1	0	0	0	0	1	0	0	0	3724	1377	48	2	2222	2	COL4A4	2	227917071	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	16447191	227917071	15282302	8	4586											
CNTN6	27255	broad.mit.edu	37	chr3	1427473	1427473	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagtcaatgttaccaccaAaaagtctcgtaagtatgcat	14	10	6	11	1	2	0	1	0	1	0	3	0	2	0	3	0	2	4	3	0	6	3	rs143460057		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:1427473A>G	uc003boz.3	+	19	2963	c.2696A>G	c.(2695-2697)aAa>aGa	p.K899R	CNTN6_uc011asj.2_Missense_Mutation_p.K827R|CNTN6_uc003bpa.3_Missense_Mutation_p.K899R	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	899					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTTACCACCAAAAAGTCTCGT	0.453													G	1427473	A	G	1427473	3	3	71	1	0	0	0	0	1	0	0	0	3676	14	1	3	2770	3	CNTN6	3	1427473	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		1427473	196594957	9	4587											
CCR5	1234	broad.mit.edu	37	chr3	46414783	46414783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgataggtacctggctgtCgtccatgctgtgtttgcttt	5	16	11	9	2	0	0	0	0	0	0	3	1	1	0	2	2	3	5	2	2	2	4			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:46414783C>T	uc003cpo.4	+	2	512	c.390C>T	c.(388-390)gtC>gtT	p.V130V	CCR5_uc010hjd.3_Silent_p.V130V|CCR5_uc021wxb.1_Silent_p.V130V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	130					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	ACCTGGCTGTCGTCCATGCTG	0.478													T	46414783	C	T	46414783	2	4	71	1	0	0	0	0	0	0	0	1	2974	871	31	1		1	CCR5	3	46414783	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	44987310	46414783	151607647	10	4588											
STAB1	23166	broad.mit.edu	37	chr3	52543899	52543899	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catacagactgcggctgtgtCcatggtctctgcgacaaccg	8	9	11	13	3	1	1	0	0	1	1	3	2	2	1	2	2	4	1	2	2	2	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr3:52543899C>T	uc003dej.3	+	22	2435	c.2361C>T	c.(2359-2361)gtC>gtT	p.V787V		NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	787					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGCTGTGTCCATGGTCTCT	0.632													T	52543899	C	T	52543899	2	4	71	1	0	0	0	0	0	0	0	1	15333	842	30	2		2	STAB1	3	52543899	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	6129116	52543899	145478531	11	4589											
KDR	3791	broad.mit.edu	37	chr4	55984940	55984940	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccactctgattattgggCcaaagccagtccaagtccct	9	10	8	14	0	1	1	0	1	1	0	3	1	3	1	5	1	2	0	5	1	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:55984940C>T	uc003has.3	-	2	491	c.189G>A	c.(187-189)tgG>tgA	p.W63*	KDR_uc003hat.1_Nonsense_Mutation_p.W63*|KDR_uc011bzx.2_Nonsense_Mutation_p.W63*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	63	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTATTGGGCCAAAGCCAGT	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55984940	C	T	55984940	4	4	71	1	0	0	0	0	0	1	0	0	8197	740	26	2	3993	2	KDR	4	55984940	Nonsense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		55984940	135169336	12	4590											
HELT	391723	broad.mit.edu	37	chr4	185941817	185941817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagcgcagcagcacagccCcttcctgacaccggtgcagg	8	4	11	18	2	0	1	0	1	0	0	1	1	1	1	5	2	5	4	5	2	0	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr4:185941817C>T	uc011ckq.2	+	3	875	c.875C>T	c.(874-876)cCc>cTc	p.P292L	HELT_uc011cko.2_Missense_Mutation_p.P207L|HELT_uc003ixa.3_Missense_Mutation_p.P206L|HELT_uc011ckp.1_Missense_Mutation_p.P150L	NM_001029887	NP_001025058	A6NFD8	HELT_HUMAN	Homo sapiens helt bHLH transcription factor (HELT), mRNA.	292	Pro-rich.						DNA binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	14		all_lung(41;9.65e-12)|Lung NSC(41;1.64e-11)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;8.92e-26)|Epithelial(43;3.02e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-11)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		CAGCACAGCCCCTTCCTGACA	0.736													T	185941817	C	T	185941817	3	4	71	1	0	0	0	0	1	0	0	0	7103	623	22	2	889	2	HELT	4	185941817	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	129956877	185941817	5212459	13	4591											
KDM1B	221656	broad.mit.edu	37	chr6	18213891	18213891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgctcactttgcagattgCcttgcaatttccgtatagat	8	16	7	10	1	2	2	1	0	1	2	3	2	3	2	2	0	4	4	2	0	3	6			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:18213891C>A	uc003nco.1	+	11	1454	c.1379C>A	c.(1378-1380)gCc>gAc	p.A460D	KDM1B_uc003ncn.1_Missense_Mutation_p.A431D|KDM1B_uc003ncp.1_Missense_Mutation_p.A16D|KDM1B_uc003ncq.1_Missense_Mutation_p.A16D	NM_153042	NP_694587	Q8NB78	KDM1B_HUMAN	Homo sapiens lysine (K)-specific demethylase 1B (KDM1B), mRNA.	663					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding	p.G460W(1)		breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TTGCAGATTGCCTTGCAATTT	0.463													A	18213891	C	A	18213891	3	1	71	1	0	0	0	0	1	0	0	0	8181	739	26	4	1342	4	KDM1B	6	18213891	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		18213891	152901176	14	4592											
VPS52	6293	broad.mit.edu	37	chr6	33232605	33232605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaatgttacggaaccGgagaacaatgtggatacaga	14	8	12	7	2	0	2	0	0	0	2	0	5	0	4	1	3	6	3	1	3	6	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:33232605G>A	uc003odm.1	-	12	1564	c.1354C>T	c.(1354-1356)Cgg>Tgg	p.R452W	VPS52_uc003odn.1_Missense_Mutation_p.R263W	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	452					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TTACGGAACCGGAGAACAATG	0.483													A	33232605	G	A	33232605	3	1	71	1	0	0	0	0	1	0	0	0	17316	1115	39	1	849	1	VPS52	6	33232605	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	15018714	33232605	137882462	15	4593											
TFAP2B	7021	broad.mit.edu	37	chr6	50810943	50810943	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcacgcacggcttcggcgcCccggccatttgcgccgcgct	4	7	12	18	8	1	0	1	0	0	0	2	0	1	0	4	3	1	3	4	3	0	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr6:50810943C>A	uc003pag.3	+	6	1387	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	407				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCTTCGGCGCCCCGGCCATTT	0.627													A	50810943	C	A	50810943	2	1	71	1	0	0	0	0	0	0	0	1	15888	610	22	4		4	TFAP2B	6	50810943	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	17578338	50810943	120304124	16	4594											
TRIP6	7205	broad.mit.edu	37	chr7	100466151	100466151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacctcctgcctaccgcaCgggctccctgaagccaaatc	8	6	8	19	2	0	1	0	1	0	0	3	1	2	1	7	1	3	2	7	1	3	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:100466151C>T	uc003uww.3	+	3	568	c.398C>T	c.(397-399)aCg>aTg	p.T133M	TRIP6_uc010lhk.2_5'UTR|TRIP6_uc022aiv.1_Missense_Mutation_p.T112M|TRIP6_uc022ait.1_Intron|TRIP6_uc022aiu.1_5'UTR	NM_003302	NP_003293	Q15654	TRIP6_HUMAN	Homo sapiens thyroid hormone receptor interactor 6 (TRIP6), mRNA.	133					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCTACCGCACGGGCTCCCTG	0.637													T	100466151	C	T	100466151	3	4	71	1	0	0	0	0	1	0	0	0	16660	536	19	1	412	1	TRIP6	7	100466151	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		100466151	58672512	17	4595											
GRM8	2918	broad.mit.edu	37	chr7	126086220	126086220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagttcacttttcacctcGccatttggtctgtcatttcc	6	16	6	13	1	4	1	3	0	1	1	6	1	5	1	3	1	0	1	3	1	0	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr7:126086220G>A	uc003vlr.2	-	8	2948	c.2637C>T	c.(2635-2637)ggC>ggT	p.G879G	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.G879G|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	879					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TTTTCACCTCGCCATTTGGTC	0.453										HNSCC(24;0.065)			A	126086220	G	A	126086220	2	1	71	1	0	0	0	0	0	0	0	1	6858	1074	38	1		1	GRM8	7	126086220	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08	25620069	126086220	33052443	18	4596											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732071	37732071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctggggagccctcggagaGgaaattggaggtctcggttc	7	9	17	8	2	2	1	0	0	2	1	5	5	2	4	1	7	1	1	1	7	1	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr8:37732071G>A	uc003xkm.2	-	2	1640	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	RAB11FIP1_uc003xkn.2_Silent_p.S528S|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Silent_p.S376S	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	528					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CCCTCGGAGAGGAAATTGGAG	0.547													A	37732071	G	A	37732071	2	1	71	1	0	0	0	0	0	0	0	1	12981	987	35	2		2	RAB11FIP1	8	37732071	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08		37732071	108631951	19	4597											
ARMC3	219681	broad.mit.edu	37	chr10	23297794	23297794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggatctcccatagaagacaAatcagagccagcttctggac	13	8	9	11	0	3	3	1	0	2	3	4	5	3	5	2	2	2	1	2	2	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:23297794A>G	uc001irm.4	+	15	2062	c.1979A>G	c.(1978-1980)aAa>aGa	p.K660R	ARMC3_uc010qcv.2_Missense_Mutation_p.K653R|ARMC3_uc010qcw.2_Missense_Mutation_p.K397R	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	660							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATAGAAGACAAATCAGAGCCA	0.383													G	23297794	A	G	23297794	3	3	71	1	0	0	0	0	1	0	0	0	957	14	1	3	2037	3	ARMC3	10	23297794	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		23297794	112236953	20	4598											
PTEN	5728	broad.mit.edu	37	chr10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactattcccagtcagaggcGctatgtgtattattatagct	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	3	1	1	7	7	rs121913294		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr10:89711900G>A	uc001kfb.3	+	5	1550	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711900	G	A	89711900	3	1	71	1	0	0	0	0	1	0	0	0	12823	1087	38	1	540	1	PTEN	10	89711900	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	66414106	89711900	45822847	21	4599											
ST5	6764	broad.mit.edu	37	chr11	8752166	8752166	+	Frame_Shift_Del	DEL	C	C	-																															tcctgctcatcctccggaggCccttgaaatcaaaggtcttt																										TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:8752166delC	uc001mgt.3	-	2	857	c.671delG	c.(670-672)ggcfs	p.G224fs	ST5_uc009yfr.3_Intron|ST5_uc001mgu.3_Intron|ST5_uc001mgv.3_Frame_Shift_Del_p.G224fs|ST5_uc010rbq.1_Intron|ST5_uc001mgw.1_Frame_Shift_Del_p.G224fs	NM_213618	NP_998783	P78524	ST5_HUMAN	Homo sapiens suppression of tumorigenicity 5 (ST5), transcript variant 3, mRNA.	224					positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CCTCCGGAGGCCCTTGAAATC	0.642													-	8752166	C	-	8752166	7	5	71	1	0	1	0	1	0	0	0	0	15316	739	26	0	2814	0	ST5	11	8752166	Frame_Shift_Del	DEL	C	TCGA-06-0882-01A-01W-0424-08		8752166	126254350	22	4600											
OR8J3	81168	broad.mit.edu	37	chr11	55904404	55904404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtatccagtgagtggttgGtttggggctgcaaatacata	10	12	13	6	0	0	1	0	1	0	0	1	1	1	1	1	4	2	5	1	4	4	5	rs143365733	byFrequency	TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:55904404G>C	uc010riz.2	-	0	791	c.791C>G	c.(790-792)aCc>aGc	p.T264S		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q263L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TGAGTGGTTGGTTTGGGGCTG	0.428													C	55904404	G	C	55904404	3	2	71	1	0	0	0	0	1	0	0	0	11318	1261	44	4	158	4	OR8J3	11	55904404	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	47152238	55904404	79102112	23	4601											
SLC22A20	440044	broad.mit.edu	37	chr11	64981482	64981482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaacttcacggccgctgtcCccccccaccactgccggggc	6	5	10	20	3	1	1	1	0	0	1	2	1	2	1	7	3	2	1	7	3	1	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:64981482C>A	uc021qlg.1	+	0	172	c.139C>A	c.(139-141)Ccc>Acc	p.P47T	SLC22A20_uc021qlh.1_5'UTR	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	45					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						GGCCGCTGTCCCCCCCCACCA	0.692													A	64981482	C	A	64981482	3	1	71	1	0	0	0	0	1	0	0	0	14546	623	22	4	141	4	SLC22A20	11	64981482	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	9077078	64981482	70025034	24	4602											
TIGD3	220359	broad.mit.edu	37	chr11	65124539	65124539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagacgagaagggggaCagagagggtgcctttgagcc	12	5	17	7	1	0	5	0	2	0	3	0	8	0	6	2	3	2	0	2	3	2	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr11:65124539C>G	uc021qlj.1	+	0	1260	c.1260C>G	c.(1258-1260)gaC>gaG	p.D420E	TIGD3_uc001odo.4_Missense_Mutation_p.D420E	NM_145719	NP_663771	Q6B0B8	TIGD3_HUMAN	Homo sapiens tigger transposable element derived 3 (TIGD3), mRNA.	420					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						AGAAGGGGGACAGAGAGGGTG	0.587													G	65124539	C	G	65124539	3	3	71	1	0	0	0	0	1	0	0	0	15997	477	17	4	1262	4	TIGD3	11	65124539	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	143057	65124539	69881977	25	4603											
ITGB7	3695	broad.mit.edu	37	chr12	53590514	53590514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgaatggtgactggcagCgctccagccgggtggggcag	7	6	18	10	2	0	2	0	2	0	0	1	2	1	2	2	5	3	4	2	5	1	0			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr12:53590514C>T	uc009zmv.3	-	4	736	c.665G>A	c.(664-666)cGc>cAc	p.R222H	ITGB7_uc001scc.3_Missense_Mutation_p.R222H|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_3'UTR	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	222	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGACTGGCAGCGCTCCAGCCG	0.622													T	53590514	C	T	53590514	3	4	71	1	0	0	0	0	1	0	0	0	7958	768	27	1	1775	1	ITGB7	12	53590514	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		53590514	80261381	26	4604											
LHFP	10186	broad.mit.edu	37	chr13	40175282	40175282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggcataaagaaccccacGcaggaggtggcagcacaaag	16	3	12	10	1	0	1	0	0	0	1	0	2	0	2	2	4	2	4	2	4	5	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr13:40175282G>A	uc001uxf.3	-	1	583	c.72C>T	c.(70-72)tgC>tgT	p.C24C		NM_005780	NP_005771	Q9Y693	LHFP_HUMAN	Homo sapiens lipoma HMGIC fusion partner (LHFP), mRNA.	24						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		AGAACCCCACGCAGGAGGTGG	0.537			T	HMGA2	lipoma								A	40175282	G	A	40175282	2	1	71	1	0	0	0	0	0	0	0	1	8823	1079	38	1		1	LHFP	13	40175282	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08		40175282	74994596	27	4605											
C14orf182	283551	broad.mit.edu	37	chr14	50472507	50472507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttccagggttgccatcCgacctgtcatttggtctgtg	5	15	10	11	1	2	0	1	0	1	0	4	1	4	0	4	2	1	1	4	2	0	4			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:50472507C>T	uc001wxi.1	-	0	1732	c.11G>A	c.(10-12)cGg>cAg	p.R4Q		NM_001012706	NP_001012724	A1A4T8	CN182_HUMAN	Homo sapiens chromosome 14 open reading frame 182 (C14orf182), mRNA.	4										large_intestine(2)|urinary_tract(1)	3						GGTTGCCATCCGACCTGTCAT	0.507													T	50472507	C	T	50472507	3	4	71	1	0	0	0	0	1	0	0	0	1778	652	23	1	324	1	C14orf182	14	50472507	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		50472507	56877033	28	4606											
TDRD9	122402	broad.mit.edu	37	chr14	104493271	104493271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggaggagtcctacgagTccaaggtgtgtgctttcgcc	7	10	13	11	3	1	0	1	0	0	0	4	3	3	2	3	3	2	1	3	3	2	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr14:104493271T>C	uc001yom.4	+	27	3307	c.3277T>C	c.(3277-3279)Tcc>Ccc	p.S1093P	TDRD9_uc001yon.4_Missense_Mutation_p.S831P	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	1093					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GTCCTACGAGTCCAAGGTGTG	0.582													C	104493271	T	C	104493271	3	2	71	1	0	0	0	0	1	0	0	0	15836	1667	58	3	3387	3	TDRD9	14	104493271	Missense_Mutation	SNP	T	TCGA-06-0882-01A-01W-0424-08	54020764	104493271	2856269	29	4607											
PLCB2	5330	broad.mit.edu	37	chr15	40596215	40596215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccttactttgatacGtccagtataagtagtagccc	10	14	6	11	1	1	1	1	1	1	0	3	1	2	1	3	0	3	3	3	0	6	8			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:40596215G>A	uc001zld.3	-	1	450	c.149C>T	c.(148-150)aCg>aTg	p.T50M	PLCB2_uc010bbo.3_Missense_Mutation_p.T50M|PLCB2_uc010ucm.2_Missense_Mutation_p.T50M|PLCB2_uc001zle.4_Missense_Mutation_p.T50M	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	50					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		ACTTTGATACGTCCAGTATAA	0.527													A	40596215	G	A	40596215	3	1	71	1	0	0	0	0	1	0	0	0	12105	1145	40	1	3532	1	PLCB2	15	40596215	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		40596215	61935177	30	4608											
RPAP1	26015	broad.mit.edu	37	chr15	41810014	41810014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatctgccagcagccaTgttttctgcagcatactcct	8	12	6	15	0	3	0	1	0	2	0	4	0	4	0	4	0	6	4	4	0	1	3			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr15:41810014T>C	uc001zod.3	-	23	4138	c.4014A>G	c.(4012-4014)acA>acG	p.T1338T		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1338						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CCAGCAGCCATGTTTTCTGCA	0.562													C	41810014	T	C	41810014	2	2	71	1	0	0	0	0	0	0	0	1	13632	1451	51	3		3	RPAP1	15	41810014	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	1213799	41810014	60721378	31	4609											
ABCC1	4363	broad.mit.edu	37	chr16	16225756	16225756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggacctggacttcgttctCaggcacatcaatgtcacgat	10	10	10	11	2	3	0	3	0	1	0	5	4	3	2	1	3	0	2	1	3	1	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:16225756C>T	uc010bvi.3	+	26	4105	c.3930C>T	c.(3928-3930)ctC>ctT	p.L1310L	ABCC1_uc010bvj.3_Silent_p.L1251L|ABCC1_uc010bvk.3_Silent_p.L1254L|ABCC1_uc010bvl.3_Silent_p.L1310L|ABCC1_uc010bvm.3_Silent_p.L1195L|ABCC1_uc002del.4_Silent_p.L1204L|ABCC1_uc021tds.1_Non-coding_Transcript|ABCC1_uc021tdt.1_Missense_Mutation_p.S200L	NM_004996	NP_004987	P33527	MRP1_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 1 (ABCC1), transcript variant 1, mRNA.	1310	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	ACTTCGTTCTCAGGCACATCA	0.607													T	16225756	C	T	16225756	2	4	71	1	0	0	0	0	0	0	0	1	49	813	29	2		2	ABCC1	16	16225756	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		16225756	74128997	32	4610											
RLTPR	146206	broad.mit.edu	37	chr16	67683169	67683169	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacagggagaccctggaCgacgtcctgcaccggattgt	8	6	13	14	3	0	1	0	0	0	1	1	5	1	3	4	3	1	1	4	3	0	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr16:67683169C>T	uc002etn.3	+	18	1821	c.1701C>T	c.(1699-1701)gaC>gaT	p.D567D	RLTPR_uc010cel.1_Silent_p.D560D|RLTPR_uc010vjr.2_Silent_p.D531D	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	567										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AGACCCTGGACGACGTCCTGC	0.637													T	67683169	C	T	67683169	2	4	71	1	0	0	0	0	0	0	0	1	13485	535	19	1		1	RLTPR	16	67683169	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	51457413	67683169	22671584	33	4611											
DRG2	1819	broad.mit.edu	37	chr17	18007951	18007951	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagaggccagacttcAcagacgccatcattctccgg	10	7	10	14	2	3	3	2	0	1	3	4	4	3	3	3	2	1	1	3	2	0	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:18007951A>T	uc002gsh.1	+	10	965	c.910A>T	c.(910-912)Aca>Tca	p.T304S		NM_001388	NP_001379	P55039	DRG2_HUMAN	Homo sapiens developmentally regulated GTP binding protein 2 (DRG2), mRNA.	304					signal transduction		GTP binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	14	all_neural(463;0.228)					GCCAGACTTCACAGACGCCAT	0.607													T	18007951	A	T	18007951	3	4	71	1	0	0	0	0	1	0	0	0	4801	159	6	5	952	5	DRG2	17	18007951	Missense_Mutation	SNP	A	TCGA-06-0882-01A-01W-0424-08		18007951	63187259	34	4612											
SLFN12	55106	broad.mit.edu	37	chr17	33749828	33749828	+	Missense_Mutation	SNP	C	C	T																															ttccaaatctagtcctattcCatcttttgtataactatagt																										TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749828C>T	uc002hji.4	-	1	597	c.220G>A	c.(220-222)Gga>Aga	p.G74R	SLFN12_uc002hjj.4_Missense_Mutation_p.G74R|SLFN12_uc010cts.3_Missense_Mutation_p.G74R	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	74							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGTCCTATTCCATCTTTTGTA	0.363													T	33749828	C	T	33749828	3	4	71	1	0	0	0	0	1	0	0	0	14828	603	21	2	1528	2	SLFN12	17	33749828	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	15741877	33749828	47445382	35	4613	7	2									
SLFN12	55106	broad.mit.edu	37	chr17	33749831	33749831	+	Missense_Mutation	SNP	C	C	T																															caaatctagtcctattccatCttttgtataactatagtctt																										TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:33749831C>T	uc002hji.4	-	1	594	c.217G>A	c.(217-219)Gat>Aat	p.D73N	SLFN12_uc002hjj.4_Missense_Mutation_p.D73N|SLFN12_uc010cts.3_Missense_Mutation_p.D73N	NM_018042	NP_060512	Q8IYM2	SLN12_HUMAN	Homo sapiens schlafen family member 12 (SLFN12), mRNA.	73							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTATTCCATCTTTTGTATAA	0.368													T	33749831	C	T	33749831	3	4	71	1	0	0	0	0	1	0	0	0	14828	913	32	2	1531	2	SLFN12	17	33749831	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08	3	33749831	47445379	36	4614	7	2									
LYZL6	57151	broad.mit.edu	37	chr17	34261842	34261842	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccagtagaagagtggccgGcctgaacagtgcaacctcca	12	5	12	12	1	0	3	0	1	0	2	1	3	1	3	5	2	4	2	5	2	4	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:34261842G>T	uc002hkj.2	-	3	605	c.405C>A	c.(403-405)ggC>ggA	p.G135G	LYZL6_uc002hkk.2_Silent_p.G135G	NM_020426	NP_065159	O75951	LYZL6_HUMAN	Homo sapiens lysozyme-like 6 (LYZL6), transcript variant 2, mRNA.	135					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			breast(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	12				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGAGTGGCCGGCCTGAACAGT	0.537													T	34261842	G	T	34261842	2	4	71	1	0	0	0	0	0	0	0	1	9205	1190	42	4		4	LYZL6	17	34261842	Silent	SNP	G	TCGA-06-0882-01A-01W-0424-08	512011	34261842	46933368	37	4615											
HOXB9	3219	broad.mit.edu	37	chr17	46703491	46703491	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggctggaagctgcacgagggGaactccaggtgctccgcgtg	7	6	17	11	3	0	0	0	0	0	0	2	3	2	2	2	5	4	4	2	5	2	0			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703491G>C	uc002inx.3	-	0	345	c.141C>G	c.(139-141)ttC>ttG	p.F47L		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	47					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						TGCACGAGGGGAACTCCAGGT	0.687													C	46703491	G	C	46703491	3	2	71	1	0	0	0	0	1	0	0	0	7363	1165	41	4	619	4	HOXB9	17	46703491	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	12441649	46703491	34491719	38	4616			1	13		2	2	48	G		7.439135e-05
HOXB9	3219	broad.mit.edu	37	chr17	46703538	46703538	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcgagctcgcgtactGgccagaaggaaacttggctg	8	7	14	12	4	0	1	0	0	0	1	1	3	0	2	2	3	4	3	2	3	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:46703538G>A	uc002inx.3	-	0	298	c.94C>T	c.(94-96)Cag>Tag	p.Q32*		NM_024017	NP_076922	P17482	HXB9_HUMAN	Homo sapiens homeobox B9 (HOXB9), mRNA.	32					canonical Wnt receptor signaling pathway|cell chemotaxis	mitochondrion|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						CTCGCGTACTGGCCAGAAGGA	0.622													A	46703538	G	A	46703538	4	1	71	1	0	0	0	0	0	1	0	0	7363	1357	47	2	666	2	HOXB9	17	46703538	Nonsense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	47	46703538	34491672	39	4617			1	13		2	2	48	G		7.439135e-05
CACNG1	786	broad.mit.edu	37	chr17	65041001	65041001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggcccatcaccctgccCgggggtaacgtacccaccct	6	6	11	18	3	1	0	1	0	0	0	1	0	1	0	5	3	4	2	5	3	2	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:65041001C>T	uc002jfu.3	+	0	350	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_000727	NP_000718	Q06432	CCG1_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 1 (CACNG1), mRNA.	75					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.P75A(1)		breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	TCACCCTGCCCGGGGGTAACG	0.637													T	65041001	C	T	65041001	2	4	71	1	0	0	0	0	0	0	0	1	2582	639	23	1		1	CACNG1	17	65041001	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08	18337463	65041001	16154209	40	4618											
KIF19	124602	broad.mit.edu	37	chr17	72345359	72345359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtctcctaccacatcGcccagtacaccagcatcatc	11	8	5	17	2	2	1	1	1	1	0	5	1	2	1	4	0	4	2	4	0	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr17:72345359G>A	uc002jkm.4	+	9	1222	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	KIF19_uc002jkj.2_Missense_Mutation_p.A362T|KIF19_uc002jkk.2_Missense_Mutation_p.A320T|KIF19_uc002jkl.2_Missense_Mutation_p.A320T	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	362					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CTACCACATCGCCCAGTACAC	0.642													A	72345359	G	A	72345359	3	1	71	1	0	0	0	0	1	0	0	0	8340	1087	38	1	1122	1	KIF19	17	72345359	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	7304358	72345359	8849851	41	4619											
LAMA1	284217	broad.mit.edu	37	chr18	6978310	6978310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccccgccacgtccctcagCgtgctcaccgcgctctggct	4	7	10	20	5	3	0	2	0	1	0	4	0	4	0	5	1	3	3	5	1	0	0			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:6978310C>T	uc002knm.3	-	42	6169	c.6075G>A	c.(6073-6075)acG>acA	p.T2025T	LAMA1_uc010wzj.2_Silent_p.T1501T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2025	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.T2025M(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTCCCTCAGCGTGCTCACCG	0.537													T	6978310	C	T	6978310	2	4	71	1	0	0	0	0	0	0	0	1	8664	755	27	1		1	LAMA1	18	6978310	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		6978310	71098938	42	4620											
SETBP1	26040	broad.mit.edu	37	chr18	42530386	42530386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcaagaatgcccagaaaGcatttgacaatacagaaggg	16	6	12	7	0	1	4	1	1	0	3	1	4	1	4	1	2	3	1	1	2	6	2	rs146321232		TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr18:42530386G>T	uc010dni.3	+	3	1377	c.1081G>T	c.(1081-1083)Gca>Tca	p.A361S		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	361						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCCCAGAAAGCATTTGACAA	0.478									Schinzel-Giedion syndrome				T	42530386	G	T	42530386	3	4	71	1	0	0	0	0	1	0	0	0	14222	971	34	4	1284	4	SETBP1	18	42530386	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	35552076	42530386	35546862	43	4621											
ZNF254	9534	broad.mit.edu	37	chr19	24309636	24309636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagcttttaatcgatcCtcaaatcttactacacataa	14	13	5	9	1	2	1	1	1	1	0	4	2	3	1	1	1	3	1	1	1	6	5			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:24309636C>T	uc002nru.3	+	3	968	c.834C>T	c.(832-834)tcC>tcT	p.S278S	ZNF254_uc010xrk.2_Silent_p.S193S	NM_203282	NP_975011	O75437	ZN254_HUMAN	Homo sapiens zinc finger protein 254 (ZNF254), mRNA.	278					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TTAATCGATCCTCAAATCTTA	0.378													T	24309636	C	T	24309636	2	4	71	1	0	0	0	0	0	0	0	1	17899	668	24	2		2	ZNF254	19	24309636	Silent	SNP	C	TCGA-06-0882-01A-01W-0424-08		24309636	34819347	44	4622											
MEGF8	1954	broad.mit.edu	37	chr19	42861568	42861568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcaggccccccagaccGtggagctgccagccgttgct	5	7	11	18	2	1	1	1	0	0	1	2	2	2	2	7	2	4	3	7	2	0	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:42861568G>A	uc002otl.4	+	26	5277	c.4642G>A	c.(4642-4644)Gtg>Atg	p.V1548M	MEGF8_uc002otm.4_Missense_Mutation_p.V1156M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	1615						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCCCAGACCGTGGAGCTGCC	0.652													A	42861568	G	A	42861568	3	1	71	1	0	0	0	0	1	0	0	0	9538	1145	40	1	4748	1	MEGF8	19	42861568	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	18551932	42861568	16267415	45	4623											
DUXA	503835	broad.mit.edu	37	chr19	57669795	57669795	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgccttgatgagagtgtgTaactgagaggcgctgtaggt	10	11	15	5	1	0	3	0	3	0	2	0	5	0	3	1	2	2	3	1	2	3	3			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr19:57669795T>C	uc002qoa.1	-	3	384	c.339A>G	c.(337-339)ttA>ttG	p.L113L		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	113						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		TGAGAGTGTGTAACTGAGAGG	0.488													C	57669795	T	C	57669795	2	2	71	1	0	0	0	0	0	0	0	1	4873	1635	57	3		3	DUXA	19	57669795	Silent	SNP	T	TCGA-06-0882-01A-01W-0424-08	14808227	57669795	1459188	46	4624											
TASP1	55617	broad.mit.edu	37	chr20	13514755	13514755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgtggtccacaaccacagCgcctaccgtgtccaaagtgc	9	8	9	15	3	0	0	0	0	0	0	3	0	2	0	5	1	4	0	5	1	3	2			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:13514755C>T	uc002woi.3	-	8	826	c.709G>A	c.(709-711)Gct>Act	p.A237T	TASP1_uc010zri.1_Intron|TASP1_uc010zrj.1_Non-coding_Transcript	NM_017714	NP_060184	Q9H6P5	TASP1_HUMAN	Homo sapiens taspase, threonine aspartase, 1 (TASP1), mRNA.	237					asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						ACAACCACAGCGCCTACCGTG	0.507													T	13514755	C	T	13514755	3	4	71	1	0	0	0	0	1	0	0	0	15686	768	27	1	577	1	TASP1	20	13514755	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		13514755	49510765	47	4625											
REM1	28954	broad.mit.edu	37	chr20	30070268	30070268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaaggcagacttggcccGctgccgagaagtctctgtgg	9	7	13	12	2	1	2	0	0	1	2	2	3	1	2	2	3	2	2	2	3	3	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr20:30070268G>A	uc002wwa.3	+	3	886	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	201					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GACTTGGCCCGCTGCCGAGAA	0.612													A	30070268	G	A	30070268	3	1	71	1	0	0	0	0	1	0	0	0	13310	1087	38	1	612	1	REM1	20	30070268	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08	16555513	30070268	32955252	48	4626											
TRPM2	7226	broad.mit.edu	37	chr21	45826547	45826547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcggggtggccaagcaggCcatcctcatccacaacgagc	9	6	11	15	2	1	0	1	0	0	0	4	1	3	0	4	4	3	1	4	4	2	1			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chr21:45826547C>A	uc010gpt.1	+	18	2961	c.2861C>A	c.(2860-2862)gCc>gAc	p.A954D	TRPM2_uc002zet.1_Missense_Mutation_p.A954D|TRPM2_uc002zeu.1_Missense_Mutation_p.A954D|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A954D|TRPM2_uc002zex.1_Missense_Mutation_p.A740D|TRPM2_uc002zey.1_Missense_Mutation_p.A467D	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	954						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCAAGCAGGCCATCCTCATC	0.607													A	45826547	C	A	45826547	3	1	71	1	0	0	0	0	1	0	0	0	16687	739	26	4	2935	4	TRPM2	21	45826547	Missense_Mutation	SNP	C	TCGA-06-0882-01A-01W-0424-08		45826547	2303348	49	4627											
MID2	11043	broad.mit.edu	37	chrX	107160914	107160914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggggcctgtggccagaGataaggaaatgtaaggaagc	13	7	16	5	0	0	1	0	0	0	1	0	4	0	3	2	5	1	2	2	5	4	3			TCGA-06-0882-01A-01W-0424-08	TCGA-06-0882-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	385a3692-3208-479f-9f39-37fb65501b80	4ed08351-1e32-42e5-b009-e2f723cedfc5	g.chrX:107160914G>T	uc004enl.3	+	6	1953	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	MID2_uc004enk.3_Intron	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	460	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGGCCAGAGATAAGGAAAT	0.468													T	107160914	G	T	107160914	3	4	71	1	0	0	0	0	1	0	0	0	9653	933	33	4	1406	4	MID2	23	107160914	Missense_Mutation	SNP	G	TCGA-06-0882-01A-01W-0424-08		107160914	48109646	50	4628											
FBXO44	93611	broad.mit.edu	37	chr1	11716011	11716011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctctggcgggaccTcatcgacctcgtgaccctct	5	9	10	17	3	3	1	1	1	2	0	5	3	3	2	4	2	2	1	4	2	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:11716011T>C	uc010oar.2	+	1	245	c.119T>C	c.(118-120)cTc>cCc	p.L40P	FBXO2_uc001asj.3_5'Flank|FBXO2_uc009vna.3_5'Flank|FBXO2_uc009vnb.1_5'Flank|FBXO44_uc001ask.3_Missense_Mutation_p.L40P|FBXO44_uc010oaq.1_Missense_Mutation_p.L40P|FBXO44_uc010oas.2_5'UTR|FBXO44_uc001asm.3_Missense_Mutation_p.L40P|FBXO44_uc001asl.3_Missense_Mutation_p.L40P|FBXO44_uc001asn.3_Missense_Mutation_p.L40P	NM_183413	NP_904320	Q9H4M3	FBX44_HUMAN	Homo sapiens F-box protein 44 (FBXO44), transcript variant 3, mRNA.	40	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-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)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGGGACCTCATCGACCTC	0.632													C	11716011	T	C	11716011	3	2	72	1	0	0	0	0	1	0	0	0	5802	1551	54	3	121	3	FBXO44	1	11716011	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08		11716011	237534610	1	4629											
NFIA	4774	broad.mit.edu	37	chr1	61869812	61869812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcgactcttcatttccCgacatcacccattatccagc	10	11	3	17	2	3	0	2	0	1	0	6	2	5	0	4	0	1	0	4	0	1	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:61869812C>T	uc010oos.2	+	8	1329	c.1247C>T	c.(1246-1248)cCg>cTg	p.P416L	NFIA_uc001czy.3_Missense_Mutation_p.P363L|NFIA_uc001czw.3_Missense_Mutation_p.P371L|NFIA_uc001czv.3_Missense_Mutation_p.P371L|NFIA_uc001czx.3_Missense_Mutation_p.P19L|NFIA_uc009wae.3_5'Flank	NM_001145512	NP_001138984	Q12857	NFIA_HUMAN	Homo sapiens nuclear factor I/A (NFIA), transcript variant 4, mRNA.	371					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						CTTCATTTCCCGACATCACCC	0.493													T	61869812	C	T	61869812	3	4	72	1	0	0	0	0	1	0	0	0	10446	652	23	1	1288	1	NFIA	1	61869812	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	50153801	61869812	187380809	2	4630											
LRRC8C	84230	broad.mit.edu	37	chr1	90178321	90178321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagtgcagcctgctcagaaCcactcttccctttcgaatgt	9	11	8	13	1	2	2	1	0	1	2	4	3	3	2	3	0	4	2	3	0	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:90178321C>A	uc001dnl.4	+	2	434	c.192C>A	c.(190-192)aaC>aaA	p.N64K		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	64						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CTGCTCAGAACCACTCTTCCC	0.433													A	90178321	C	A	90178321	3	1	72	1	0	0	0	0	1	0	0	0	9093	506	18	4	198	4	LRRC8C	1	90178321	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	28308509	90178321	159072300	3	4631											
FLG	2312	broad.mit.edu	37	chr1	152287099	152287099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaattctcttttctggtaGactcataatatgcttgagcc	10	16	7	8	0	3	2	1	1	2	1	4	2	3	2	1	1	2	3	1	1	5	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:152287099G>T	uc001ezu.1	-	2	299	c.263C>A	c.(262-264)tCt>tAt	p.S88Y	AK056431_uc001ezv.3_Splice_Site	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	88					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGGTAGACTCATAATA	0.358									Ichthyosis				T	152287099	G	T	152287099	3	4	72	1	0	0	0	0	1	0	0	0	5971	942	33	4	11926	4	FLG	1	152287099	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	62108778	152287099	96963522	4	4632											
PBXIP1	57326	broad.mit.edu	37	chr1	154918742	154918742	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcctttccactccactcccTagaattctggaagtgggact	8	13	7	13	0	1	1	0	0	1	1	5	3	5	3	4	2	0	0	4	2	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:154918742T>G	uc001ffr.3	-	9	1467	c.1408A>C	c.(1408-1410)Agg>Cgg	p.R470R	PBXIP1_uc001ffs.3_Silent_p.R441R|PBXIP1_uc010pep.2_Silent_p.R315R	NM_020524	NP_065385	Q96AQ6	PBIP1_HUMAN	Homo sapiens pre-B-cell leukemia homeobox interacting protein 1 (PBXIP1), mRNA.	470					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CTCCACTCCCTAGAATTCTGG	0.567													G	154918742	T	G	154918742	2	3	72	1	0	0	0	0	0	0	0	1	11572	1521	53	5		5	PBXIP1	1	154918742	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	2631643	154918742	94331879	5	4633											
SPTA1	6708	broad.mit.edu	37	chr1	158615169	158615169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctccatgtcagcacGgtgctcctgtgggaaaaagg	8	9	12	12	1	2	0	1	0	1	0	4	1	4	1	3	3	3	2	3	3	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:158615169G>A	uc001fst.1	-	28	4202	c.4003C>T	c.(4003-4005)Cgt>Tgt	p.R1335C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1335					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1335G(4)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATGTCAGCACGGTGCTCCTGT	0.488													A	158615169	G	A	158615169	3	1	72	1	0	0	0	0	1	0	0	0	15212	1116	39	1	3352	1	SPTA1	1	158615169	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3696427	158615169	90635452	6	4634											
DCAF8	50717	broad.mit.edu	37	chr1	160250017	160250017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagagattcccgatgaCtctgcaaccattctggatac	11	10	10	10	1	2	2	0	1	2	1	3	6	3	3	2	2	3	2	2	2	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:160250017C>T	uc010pjc.1	-	3	445	c.173G>A	c.(172-174)aGt>aAt	p.S58N	DCAF8_uc001fvs.2_Missense_Mutation_p.S205N|DCAF8_uc021pbq.1_Missense_Mutation_p.S205N|DCAF8_uc010pje.1_Non-coding_Transcript|DCAF8_uc001fvt.2_Missense_Mutation_p.S115N	NM_015726	NP_056541	Q5TAQ9	DCAF8_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8 (DCAF8), transcript variant 1, mRNA.	142						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TTCCCGATGACTCTGCAACCA	0.418													T	160250017	C	T	160250017	3	4	72	1	0	0	0	0	1	0	0	0	4310	565	20	2		2	DCAF8	1	160250017	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	1634848	160250017	89000604	7	4635											
PAPPA2	60676	broad.mit.edu	37	chr1	176563773	176563773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcttctccctctgcaccGaccgcgtgaagaaagccacc	8	9	7	17	3	4	2	0	1	4	1	5	3	4	2	5	0	2	1	5	0	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:176563773G>A	uc001gkz.3	+	2	2197	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	PAPPA2_uc001gky.1_Missense_Mutation_p.D345N|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	345					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						CCTCTGCACCGACCGCGTGAA	0.592													A	176563773	G	A	176563773	3	1	72	1	0	0	0	0	1	0	0	0	11509	1058	37	1	1039	1	PAPPA2	1	176563773	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	16313756	176563773	72686848	8	4636											
ABL2	27	broad.mit.edu	37	chr1	179090932	179090932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatgttgtcaccagcccaTcagccactgtggagtgatgg	9	10	12	10	0	2	1	2	1	0	0	2	2	2	2	3	2	2	2	3	2	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:179090932T>C	uc001gmj.4	-	4	1045	c.758A>G	c.(757-759)gAt>gGt	p.D253G	ABL2_uc010pnf.2_Missense_Mutation_p.D253G|ABL2_uc010png.2_Missense_Mutation_p.D232G|ABL2_uc010pnh.2_Missense_Mutation_p.D232G|ABL2_uc009wxe.3_Missense_Mutation_p.D232G|ABL2_uc001gmg.4_Missense_Mutation_p.D238G|ABL2_uc001gmi.4_Missense_Mutation_p.D238G|ABL2_uc010pne.2_Missense_Mutation_p.D217G|ABL2_uc001gmk.3_Missense_Mutation_p.D217G|ABL2_uc009wxf.2_Missense_Mutation_p.D238G	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	253	SH2.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CACCAGCCCATCAGCCACTGT	0.498			T	ETV6	AML								C	179090932	T	C	179090932	3	2	72	1	0	0	0	0	1	0	0	0	93	1435	50	3	2867	3	ABL2	1	179090932	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	2527159	179090932	70159689	9	4637											
IL10	3586	broad.mit.edu	37	chr1	206942020	206942020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgtaggcttctatgtaGttgatgaagatgtcaaactc	11	14	10	6	0	3	3	2	2	1	1	4	3	3	3	0	1	1	4	0	1	5	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:206942020G>A	uc001hen.1	-	4	557	c.498C>T	c.(496-498)aaC>aaT	p.N166N		NM_000572	NP_000563	P22301	IL10_HUMAN	Homo sapiens interleukin 10 (IL10), mRNA.	166					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CTTCTATGTAGTTGATGAAGA	0.413													A	206942020	G	A	206942020	2	1	72	1	0	0	0	0	0	0	0	1	7677	1020	36	2		2	IL10	1	206942020	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	27851088	206942020	42308601	10	4638											
CD46	4179	broad.mit.edu	37	chr1	207930974	207930974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggttatcagatgcactttAtttgtaatgaggggtaagtt	10	17	11	3	0	1	2	1	1	0	1	1	2	1	2	0	3	1	5	0	3	4	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207930974A>G	uc001hgc.3	+	2	551	c.376A>G	c.(376-378)Att>Gtt	p.I126V	CD46_uc001hgg.3_Missense_Mutation_p.I126V|CD46_uc001hgh.3_Missense_Mutation_p.I126V|CD46_uc001hgi.3_Missense_Mutation_p.I126V|CD46_uc001hgj.3_Missense_Mutation_p.I126V|CD46_uc001hgm.3_Missense_Mutation_p.I126V|CD46_uc001hgl.3_Missense_Mutation_p.I126V|CD46_uc001hgp.3_Missense_Mutation_p.I126V	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	126	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GATGCACTTTATTTGTAATGA	0.363													G	207930974	A	G	207930974	3	3	72	1	0	0	0	0	1	0	0	0	3048	449	16	3	386	3	CD46	1	207930974	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	988954	207930974	41319647	11	4639											
CD46	4179	broad.mit.edu	37	chr1	207934671	207934671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtatttgagtatcttGatgcagtaacttatagttgt	12	17	9	3	0	1	3	0	2	1	1	1	3	1	3	0	0	2	5	0	0	7	9			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr1:207934671G>T	uc001hgc.3	+	4	728	c.553G>T	c.(553-555)Gat>Tat	p.D185Y	CD46_uc001hgg.3_Missense_Mutation_p.D185Y|CD46_uc001hgh.3_Missense_Mutation_p.D185Y|CD46_uc001hgi.3_Missense_Mutation_p.D185Y|CD46_uc001hgj.3_Missense_Mutation_p.D185Y|CD46_uc001hgm.3_Missense_Mutation_p.D185Y|CD46_uc001hgl.3_Missense_Mutation_p.D185Y|CD46_uc001hgp.3_Missense_Mutation_p.D185Y	NM_002389	NP_002380	P15529	MCP_HUMAN	Homo sapiens CD46 molecule, complement regulatory protein (CD46), transcript variant a, mRNA.	185	Sushi 3.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity	p.D185G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGAGTATCTTGATGCAGTAAC	0.373													T	207934671	G	T	207934671	3	4	72	1	0	0	0	0	1	0	0	0	3048	1290	45	4	571	4	CD46	1	207934671	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3697	207934671	41315950	12	4640											
PSD4	23550	broad.mit.edu	37	chr2	113940279	113940279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgggtccatcaggaCgggctggagccttgccagga	7	6	18	10	1	1	0	1	0	0	0	2	4	2	4	3	6	3	2	3	6	0	1	rs147089589		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:113940279C>T	uc002tjc.3	+	1	429	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622													T	113940279	C	T	113940279	2	4	72	1	0	0	0	0	0	0	0	1	12734	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08		113940279	129259094	13	4641											
MGAT5	4249	broad.mit.edu	37	chr2	135107438	135107438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttaatcatgcaaattatgCccaatcgaaaggccacaaga	17	9	6	9	1	1	1	1	0	0	1	2	2	1	1	2	1	2	1	2	1	6	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:135107438C>T	uc002ttw.4	+	8	1320	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_002410	NP_002401	Q09328	MGT5A_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase (MGAT5), mRNA.	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		GCAAATTATGCCCAATCGAAA	0.413													T	135107438	C	T	135107438	3	4	72	1	0	0	0	0	1	0	0	0	9623	739	26	2	1209	2	MGAT5	2	135107438	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	21167159	135107438	108091935	14	4642											
XIRP2	129446	broad.mit.edu	37	chr2	168107813	168107813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggttgcagtgcctcctcGcctgtcagagcacacacaga	10	7	10	14	1	1	2	1	0	0	2	3	2	2	2	3	1	3	3	3	1	1	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:168107813G>A	uc002udx.3	+	8	10000	c.9911G>A	c.(9910-9912)cGc>cAc	p.R3304H	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R3129H|XIRP2_uc010fpq.3_Missense_Mutation_p.R3082H|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	3129					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTGCCTCCTCGCCTGTCAGAG	0.438													A	168107813	G	A	168107813	3	1	72	1	0	0	0	0	1	0	0	0	17532	1087	38	1	9941	1	XIRP2	2	168107813	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	33000375	168107813	75091560	15	4643											
LRP2	4036	broad.mit.edu	37	chr2	170134318	170134318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtcaacccagtaaacaCgcttcgatatcatatccaga	15	8	7	11	2	2	2	2	0	0	2	4	4	3	2	2	0	2	2	2	0	5	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:170134318C>T	uc002ues.3	-	12	1922	c.1709G>A	c.(1708-1710)cGt>cAt	p.R570H	LRP2_uc010zdf.1_Intron	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	570					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R570H(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCAGTAAACACGCTTCGATAT	0.408													T	170134318	C	T	170134318	3	4	72	1	0	0	0	0	1	0	0	0	9026	536	19	1	12526	1	LRP2	2	170134318	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	2026505	170134318	73065055	16	4644											
TTN	7273	broad.mit.edu	37	chr2	179399105	179399108	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ctgataactttagtactgacTctttctatcttctgcttcaa																										TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179399105_179399108delTCTT	uc021vsy.1	-	306	94755_94758	c.94530_94533delAAGA	c.(94528-94533)gaaagafs	p.E31510fs	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.E25205fs|TTN_uc021vta.1_Frame_Shift_Del_p.E25138fs|TTN_uc021vtb.1_Frame_Shift_Del_p.E25013fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32437	Ig-like 140.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGTACTGACTCTTTCTATCTTCT	0.461													-	179399108	TCTT	-	179399105	7	5	72	1	0	1	0	1	0	0	0	0	16837	1548	54	0	5762	0	TTN	2	179399105	Frame_Shift_Del	DEL	TCTT	TCGA-06-0939-01A-01D-1353-08	9264787	179399105	63800268	17	4645											
TTN	7273	broad.mit.edu	37	chr2	179544077	179544077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtaccttttgctggcGgaggcttctcctttttagga	6	15	12	8	1	1	0	0	0	1	0	2	3	1	3	2	5	2	3	2	5	2	7			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:179544077G>A	uc021vsy.1	-	138	30224	c.29999C>T	c.(29998-30000)cCg>cTg	p.P10000L	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.P6661L|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10927	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGCTGGCGGAGGCTTCTC	0.413													A	179544077	G	A	179544077	3	1	72	1	0	0	0	0	1	0	0	0	16837	1116	39	1	70682	1	TTN	2	179544077	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	144972	179544077	63655296	18	4646											
SDPR	8436	broad.mit.edu	37	chr2	192711596	192711596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgagggcttttcctgcCgcatgtcagacccagggtgc	5	9	14	13	2	1	1	1	0	0	1	3	2	2	1	3	3	2	3	3	3	0	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:192711596C>T	uc002utb.3	-	0	411	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	19						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	CTTTTCCTGCCGCATGTCAGA	0.607													T	192711596	C	T	192711596	3	4	72	1	0	0	0	0	1	0	0	0	14063	652	23	1	1229	1	SDPR	2	192711596	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	13167519	192711596	50487777	19	4647											
NGEF	25791	broad.mit.edu	37	chr2	233744299	233744299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacattccttgaggttctggGaccggatcttgggattcaag	9	12	12	8	1	3	1	1	1	2	0	4	4	4	4	2	4	1	1	2	4	2	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr2:233744299G>T	uc002vts.2	-	14	2281	c.2033C>A	c.(2032-2034)tCc>tAc	p.S678Y	NGEF_uc010zmm.1_Missense_Mutation_p.S401Y|NGEF_uc010fyg.1_Missense_Mutation_p.S586Y	NM_019850	NP_062824	Q8N5V2	NGEF_HUMAN	Homo sapiens neuronal guanine nucleotide exchange factor (NGEF), transcript variant 1, mRNA.	678					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	p.R677Q(1)		central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GAGGTTCTGGGACCGGATCTT	0.582													T	233744299	G	T	233744299	3	4	72	1	0	0	0	0	1	0	0	0	10470	1174	41	4	103	4	NGEF	2	233744299	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	41032703	233744299	9455074	20	4648											
PPARG	5468	broad.mit.edu	37	chr3	12447429	12447429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaggagaagctgttggCggagatctccagtgatatcg	11	8	15	7	3	1	4	0	1	1	3	3	7	1	4	1	3	1	2	1	3	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:12447429C>T	uc003bwx.3	+	4	759	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PPARG_uc003bwr.3_Missense_Mutation_p.A195V|PPARG_uc003bws.3_Missense_Mutation_p.A195V|PPARG_uc003bwu.3_Missense_Mutation_p.A195V|PPARG_uc003bwv.3_Missense_Mutation_p.A195V|PPARG_uc010hea.1_Non-coding_Transcript|PPARG_uc003bwt.1_Missense_Mutation_p.A195V|PPARG_uc003bww.1_Missense_Mutation_p.A223V	NM_015869	NP_619726	P37231	PPARG_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma (PPARG), transcript variant 2, mRNA.	223	Interaction with FAM120B (By similarity).				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.A223A(1)	PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGCTGTTGGCGGAGATCTCC	0.512			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						T	12447429	C	T	12447429	3	4	72	1	0	0	0	0	1	0	0	0	12376	768	27	1	686	1	PPARG	3	12447429	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		12447429	185575001	21	4649											
C3orf72	401089	broad.mit.edu	37	chr3	138669148	138669148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagaagccgcccgcgcctCgggcttccggcggcccagct	4	4	15	18	6	0	1	0	0	0	1	2	1	1	1	5	4	2	3	5	4	1	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:138669148C>T	uc003esx.1	+	2	393	c.262C>T	c.(262-264)Cgg>Tgg	p.R88W	AK304483_uc011bmr.2_3'UTR	NM_001040061	NP_001035150	Q6ZUU3	CC072_HUMAN	Homo sapiens chromosome 3 open reading frame 72 (C3orf72), mRNA.	88										large_intestine(1)|lung(3)	4						GCCCGCGCCTCGGGCTTCCGG	0.692													T	138669148	C	T	138669148	3	4	72	1	0	0	0	0	1	0	0	0	2265	875	31	1	272	1	C3orf72	3	138669148	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	126221719	138669148	59353282	22	4650											
SUCNR1	56670	broad.mit.edu	37	chr3	151598459	151598459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagtccttggaaataccaTtgttgtttacggctacatct	9	14	10	8	1	1	0	0	0	1	0	2	2	2	2	2	3	3	3	2	3	4	7			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr3:151598459T>C	uc003ezf.2	+	2	233	c.128T>C	c.(127-129)aTt>aCt	p.I43T		NM_033050	NP_149039	Q9BXA5	SUCR1_HUMAN	Homo sapiens succinate receptor 1 (SUCNR1), mRNA.	43						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GGAAATACCATTGTTGTTTAC	0.433													C	151598459	T	C	151598459	3	2	72	1	0	0	0	0	1	0	0	0	15462	1493	52	3	134	3	SUCNR1	3	151598459	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	12929311	151598459	46423971	23	4651											
ZNF732	654254	broad.mit.edu	37	chr4	266352	266352	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcatatcttcttaatatAagtttgtggaacgaatcttc	11	18	5	7	1	4	0	1	0	4	0	6	2	4	1	0	1	1	1	0	1	6	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:266352A>G	uc021xka.1	-	3	294	c.294T>C	c.(292-294)ctT>ctC	p.L98L	ZNF732_uc011buu.1_Silent_p.L66L	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	98					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTCTTAATATAAGTTTGTGGA	0.328													G	266352	A	G	266352	2	3	72	1	0	0	0	0	0	0	0	1	18224	349	13	3		3	ZNF732	4	266352	Silent	SNP	A	TCGA-06-0939-01A-01D-1353-08		266352	190887924	24	4652											
WDR19	57728	broad.mit.edu	37	chr4	39267694	39267694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaacaggttggtcaggcCaaagatgaactgctgaccaa	15	8	10	8	0	1	3	1	2	0	1	1	3	1	3	2	3	3	2	2	3	5	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:39267694C>T	uc003gtv.3	+	28	3349	c.3195C>T	c.(3193-3195)gcC>gcT	p.A1065A	WDR19_uc011byi.2_Silent_p.A905A|WDR19_uc003gtw.1_Silent_p.A662A	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	1065					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TTGGTCAGGCCAAAGATGAAC	0.473													T	39267694	C	T	39267694	2	4	72	1	0	0	0	0	0	0	0	1	17381	581	21	2		2	WDR19	4	39267694	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	39001342	39267694	151886582	25	4653											
GUCY1B3	2983	broad.mit.edu	37	chr4	156721201	156721201	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcacgttaagagccctgGaagatgaaaagaaaaagaca	19	5	10	7	1	1	5	1	1	0	4	1	6	1	6	1	1	2	2	1	1	6	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr4:156721201G>T	uc003ipc.3	+	8	1317	c.1150G>T	c.(1150-1152)Gaa>Taa	p.E384*	GUCY1B3_uc011cio.2_Nonsense_Mutation_p.E406*|GUCY1B3_uc011cip.2_Nonsense_Mutation_p.E364*|GUCY1B3_uc003ipd.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc010iqf.3_Nonsense_Mutation_p.E384*|GUCY1B3_uc010iqg.3_Nonsense_Mutation_p.E312*|GUCY1B3_uc011ciq.2_Nonsense_Mutation_p.E312*	NM_000857	NP_000848	Q02153	GCYB1_HUMAN	Homo sapiens guanylate cyclase 1, soluble, beta 3 (GUCY1B3), mRNA.	384					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble|intracellular membrane-bounded organelle	GTP binding|guanylate cyclase activity|receptor activity	p.L383L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.148)		AAGAGCCCTGGAAGATGAAAA	0.393													T	156721201	G	T	156721201	4	4	72	1	0	0	0	0	0	1	0	0	6950	1175	41	4	1184	4	GUCY1B3	4	156721201	Nonsense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	117453507	156721201	34433075	26	4654											
KIAA0947	23379	broad.mit.edu	37	chr5	5464090	5464090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataactcaaaactagagcCatctggcaaaaataagaatc	19	9	5	8	0	2	2	1	0	1	2	3	2	2	2	1	1	3	1	1	1	9	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:5464090C>G	uc003jdm.4	+	12	4865	c.4643C>G	c.(4642-4644)cCa>cGa	p.P1548R		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1548										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAACTAGAGCCATCTGGCAAA	0.358													G	5464090	C	G	5464090	3	3	72	1	0	0	0	0	1	0	0	0	8260	594	21	4	4693	4	KIAA0947	5	5464090	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		5464090	175451170	27	4655											
BDP1	55814	broad.mit.edu	37	chr5	70806902	70806902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgagctagaggagaccagtaCctcaagacaaactgacacac	16	4	9	12	1	1	4	1	1	0	3	1	6	1	4	2	1	3	2	2	1	4	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:70806902C>A	uc003kbp.1	+	16	4246	c.3983C>A	c.(3982-3984)aCc>aAc	p.T1328N	BDP1_uc003kbn.1_Missense_Mutation_p.T1328N|BDP1_uc003kbo.3_Missense_Mutation_p.T1328N	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1328					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		GAGACCAGTACCTCAAGACAA	0.408													A	70806902	C	A	70806902	3	1	72	1	0	0	0	0	1	0	0	0	1400	507	18	4	4049	4	BDP1	5	70806902	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	65342812	70806902	110108358	28	4656											
SV2C	22987	broad.mit.edu	37	chr5	75428010	75428010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgataatccaagaatgCggtcatggtcgttttcagtg	10	12	12	7	2	2	2	2	1	0	1	4	3	3	2	1	2	2	2	1	2	3	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:75428010C>T	uc003kei.1	+	1	569	c.435C>T	c.(433-435)tgC>tgT	p.C145C		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	145					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCCAAGAATGCGGTCATGGTC	0.537													T	75428010	C	T	75428010	2	4	72	1	0	0	0	0	0	0	0	1	15515	776	27	1		1	SV2C	5	75428010	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	4621108	75428010	105487250	29	4657											
FAM81B	153643	broad.mit.edu	37	chr5	94749868	94749868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaccatcaccagcatcGtcaaaaaactcagccaaaat	17	6	4	14	1	3	1	3	0	0	1	5	1	4	1	4	0	3	1	4	0	5	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:94749868G>A	uc003kla.1	+	3	557	c.511G>A	c.(511-513)Gtc>Atc	p.V171I	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	171										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		CACCAGCATCGTCAAAAAACT	0.418													A	94749868	G	A	94749868	3	1	72	1	0	0	0	0	1	0	0	0	5679	1145	40	1	525	1	FAM81B	5	94749868	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	19321858	94749868	86165392	30	4658											
PCDHAC2	56147	broad.mit.edu	37	chr5	140166149	140166149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgaattctcggatcgatCgcgaggagctgtgccagtgg	7	11	15	8	4	1	1	0	1	1	0	4	5	1	3	1	3	2	1	1	3	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:140166149C>T	uc003lhb.2	+	0	274	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	PCDHAC2_uc003lha.2_Missense_Mutation_p.R92C|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R92C	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	107	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGATCGATCGCGAGGAGCT	0.567													T	140166149	C	T	140166149	3	4	72	1	0	0	0	0	1	0	0	0	11609	884	31	1		1	PCDHAC2	5	140166149	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	45416281	140166149	40749111	31	4659											
MED7	9443	broad.mit.edu	37	chr5	156565766	156565766	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctttcattcatctcatcaAttaggacacacaaggcagca	13	11	6	11	0	5	0	4	0	2	0	6	1	5	1	0	2	1	2	0	2	3	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:156565766A>G	uc010jik.3	-	1	1069	c.677T>C	c.(676-678)aTt>aCt	p.I226T	MED7_uc003lwm.4_Missense_Mutation_p.I226T|MED7_uc021ygl.1_Missense_Mutation_p.I226T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	226					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATCTCATCAATTAGGACACA	0.323													G	156565766	A	G	156565766	3	3	72	1	0	0	0	0	1	0	0	0	9527	101	4	3	28	3	MED7	5	156565766	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	16399617	156565766	24349494	32	4660											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581109	178581109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggaagcggtggaaggcGgcctgcaccaggggcgccat	8	4	18	11	3	0	0	0	0	0	0	0	2	0	2	3	7	2	1	3	7	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr5:178581109G>A	uc003mjw.3	-	7	1425	c.1323C>T	c.(1321-1323)gcC>gcT	p.A441A	ADAMTS2_uc011dgm.2_Silent_p.A441A	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	441	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GGTGGAAGGCGGCCTGCACCA	0.711													A	178581109	G	A	178581109	2	1	72	1	0	0	0	0	0	0	0	1	265	1103	39	1		1	ADAMTS2	5	178581109	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	22015343	178581109	2334151	33	4661											
MUT	4594	broad.mit.edu	37	chr6	49419405	49419405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattgcttctattgcagtaCggacaatattattgtaggga	11	14	9	7	1	1	0	0	0	1	0	1	2	1	2	1	2	3	4	1	2	6	9			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:49419405C>T	uc003ozg.4	-	5	1371	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000255	NP_000246	P22033	MUTA_HUMAN	Homo sapiens methylmalonyl CoA mutase (MUT), nuclear gene encoding mitochondrial protein, mRNA.	369			R -> C (in MMAM; mut0).|R -> H (in MMAM; mut- and mut0).		fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TATTGCAGTACGGACAATATT	0.348													T	49419405	C	T	49419405	3	4	72	1	0	0	0	0	1	0	0	0	10067	536	19	1	1178	1	MUT	6	49419405	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		49419405	121695662	34	4662											
ZNF451	26036	broad.mit.edu	37	chr6	56963890	56963890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgacctgttcttgaatacaTtgatctggtcagcagtgatg	10	13	10	8	1	3	3	1	3	2	0	3	4	3	3	1	1	2	2	1	1	2	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:56963890T>C	uc003pdm.1	+	2	361	c.137T>C	c.(136-138)aTt>aCt	p.I46T	ZNF451_uc003pdl.3_Missense_Mutation_p.I46T|ZNF451_uc003pdn.1_Missense_Mutation_p.I46T|ZNF451_uc011dxn.2_Missense_Mutation_p.I46T|ZNF451_uc003pdk.1_Missense_Mutation_p.I46T|ZNF451_uc003pdo.3_Non-coding_Transcript|ZNF451_uc003pdp.3_5'Flank	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CTTGAATACATTGATCTGGTC	0.338													C	56963890	T	C	56963890	3	2	72	1	0	0	0	0	1	0	0	0	18023	1493	52	3	147	3	ZNF451	6	56963890	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	7544485	56963890	114151177	35	4663											
SIM1	6492	broad.mit.edu	37	chr6	100896122	100896122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcgtaccccgtcagctcCgccaccctgaggagagcaat	8	7	11	15	3	1	2	1	1	0	1	3	3	2	2	5	2	3	4	5	2	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:100896122C>T	uc003pqj.4	-	6	1217	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SIM1_uc021zdg.1_Silent_p.A250A|SIM1_uc010kcu.3_Silent_p.A250A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	250	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CCGTCAGCTCCGCCACCCTGA	0.627													T	100896122	C	T	100896122	2	4	72	1	0	0	0	0	0	0	0	1	14417	639	23	1		1	SIM1	6	100896122	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	43932232	100896122	70218945	36	4664											
AIM1	202	broad.mit.edu	37	chr6	107008787	107008787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgccaaataggttctctaCgaccttttgttcaggtattt	8	16	8	9	2	2	0	1	0	1	0	4	1	2	0	2	2	1	3	2	2	4	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:107008787C>T	uc003prh.3	+	16	5653	c.4741C>T	c.(4741-4743)Cga>Tga	p.R1581*	AIM1_uc003pri.3_Nonsense_Mutation_p.R385*	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1581	Beta/gamma crystallin 'Greek key' 12.						sugar binding	p.R1581Q(1)		breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGTTCTCTACGACCTTTTGT	0.378													T	107008787	C	T	107008787	4	4	72	1	0	0	0	0	0	1	0	0	430	528	19	1	4807	1	AIM1	6	107008787	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	6112665	107008787	64106280	37	4665											
HECA	51696	broad.mit.edu	37	chr6	139488187	139488187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccgtgcagttccttcggcgGctggacctctccgaactcct	4	10	10	17	4	1	0	0	0	1	0	5	2	3	1	5	3	2	3	5	3	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:139488187G>A	uc003qin.3	+	1	1323	c.1038G>A	c.(1036-1038)cgG>cgA	p.R346R		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	346					respiratory tube development			p.R346W(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		TCCTTCGGCGGCTGGACCTCT	0.597													A	139488187	G	A	139488187	2	1	72	1	0	0	0	0	0	0	0	1	7093	1190	42	2		2	HECA	6	139488187	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	32479400	139488187	31626880	38	4666											
SNX9	51429	broad.mit.edu	37	chr6	158357061	158357061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaaattgccagtctcGtggcagaacaggtactaaca	15	8	10	8	1	1	3	0	1	1	2	2	3	1	3	1	2	4	2	1	2	5	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr6:158357061G>T	uc003qqv.1	+	13	1605	c.1432G>T	c.(1432-1434)Gtg>Ttg	p.V478L		NM_016224	NP_057308	Q9Y5X1	SNX9_HUMAN	Homo sapiens sorting nexin 9 (SNX9), mRNA.	478	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding	p.V478V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		TGCCAGTCTCGTGGCAGAACA	0.348													T	158357061	G	T	158357061	3	4	72	1	0	0	0	0	1	0	0	0	15003	1145	40	4	1486	4	SNX9	6	158357061	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	18868874	158357061	12758006	39	4667											
STK31	56164	broad.mit.edu	37	chr7	23827708	23827708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgctttaaaccgtgAacaaggaattgttggagatt	12	15	10	4	1	0	2	0	1	0	1	0	4	0	3	1	2	3	3	1	2	6	7			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:23827708A>G	uc003sws.4	+	20	2664	c.2597A>G	c.(2596-2598)gAa>gGa	p.E866G	STK31_uc003swt.4_Missense_Mutation_p.E843G|STK31_uc011jze.2_Missense_Mutation_p.E866G|STK31_uc010kuq.3_Missense_Mutation_p.E843G|STK31_uc003swv.1_Missense_Mutation_p.E32G	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	866	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAAACCGTGAACAAGGAATT	0.353													G	23827708	A	G	23827708	3	3	72	1	0	0	0	0	1	0	0	0	15392	246	9	3	2679	3	STK31	7	23827708	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		23827708	135310955	40	4668											
C7orf10	79783	broad.mit.edu	37	chr7	40356417	40356417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcaaaaggaagcaaaacGttggggtacagctcatggca	14	7	13	7	1	2	0	2	0	0	0	2	1	2	1	0	5	4	5	0	5	6	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:40356417G>A	uc022acd.1	+	8	824	c.800G>A	c.(799-801)cGt>cAt	p.R267H	C7orf10_uc003thn.2_Missense_Mutation_p.R267H|C7orf10_uc003tho.2_Missense_Mutation_p.R219H	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	267							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GAAGCAAAACGTTGGGGTACA	0.388													A	40356417	G	A	40356417	3	1	72	1	0	0	0	0	1	0	0	0	2400	1145	40	1	723	1	C7orf10	7	40356417	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	16528709	40356417	118782246	41	4669											
MUC17	140453	broad.mit.edu	37	chr7	100679249	100679249	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagcactgcattaacaAgtatacctgtcagcaccaca	16	7	7	11	0	1	0	1	0	0	0	1	1	1	1	2	1	5	4	2	1	6	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr7:100679249A>G	uc003uxp.1	+	2	4605	c.4552A>G	c.(4552-4554)Agt>Ggt	p.S1518G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1518	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)					TGCATTAACAAGTATACCTGT	0.483													G	100679249	A	G	100679249	3	3	72	1	0	0	0	0	1	0	0	0	10050	72	3	3	4562	3	MUC17	7	100679249	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	60322832	100679249	58459414	42	4670											
KCNU1	157855	broad.mit.edu	37	chr8	36768588	36768588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatggcaaccctcaccatCggatccttgcaaattgactc	11	10	6	14	1	2	1	2	1	0	0	5	2	3	2	3	2	2	2	3	2	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:36768588C>T	uc010lvw.3	+	21	2559	c.2472C>T	c.(2470-2472)atC>atT	p.I824I	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	824						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCTCACCATCGGATCCTTGC	0.512													T	36768588	C	T	36768588	2	4	72	1	0	0	0	0	0	0	0	1	8151	874	31	1		1	KCNU1	8	36768588	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08		36768588	109595434	43	4671											
ST18	9705	broad.mit.edu	37	chr8	53085003	53085003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacagtctgaacagataCatttttttcaaatttcccca	13	15	3	10	0	2	2	1	1	1	1	3	2	3	2	2	0	3	0	2	0	4	6			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:53085003C>T	uc003xqz.2	-	4	574	c.418G>A	c.(418-420)Gta>Ata	p.V140I	ST18_uc011ldq.1_5'UTR|ST18_uc011ldr.1_Missense_Mutation_p.V105I|ST18_uc011lds.1_Missense_Mutation_p.V45I|ST18_uc003xra.2_Missense_Mutation_p.V140I|ST18_uc003xrb.2_Missense_Mutation_p.V140I	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	140						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGAACAGATACATTTTTTTCA	0.383													T	53085003	C	T	53085003	3	4	72	1	0	0	0	0	1	0	0	0	15308	478	17	2	2793	2	ST18	8	53085003	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	16316415	53085003	93279019	44	4672											
NSMAF	8439	broad.mit.edu	37	chr8	59548070	59548070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctggttcaaaaatcaccGattttgaacatatttttaag	15	15	5	6	1	3	1	2	1	1	0	3	2	3	1	1	1	1	1	1	1	6	7	rs35436008		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:59548070G>A	uc011lee.2	-	2	339	c.278C>T	c.(277-279)tCg>tTg	p.S93L	NSMAF_uc003xtt.3_Missense_Mutation_p.S62L	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	62					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				AAAAATCACCGATTTTGAACA	0.323													A	59548070	G	A	59548070	3	1	72	1	0	0	0	0	1	0	0	0	10750	1059	37	1	2684	1	NSMAF	8	59548070	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6463067	59548070	86815952	45	4673											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744273	70744273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatgaagtgaggtaaggcGaagagggctgccccgaaggc	12	4	18	7	2	0	4	0	2	0	2	0	7	0	4	2	4	1	2	2	4	4	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:70744273G>A	uc003xyl.3	-	1	1343	c.636C>T	c.(634-636)ttC>ttT	p.F212F	SLCO5A1_uc010lzb.3_Silent_p.F212F|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.F212F|SLCO5A1_uc010lzc.2_Silent_p.F212F	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	transporter activity	p.L211I(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GAGGTAAGGCGAAGAGGGCTG	0.662													A	70744273	G	A	70744273	2	1	72	1	0	0	0	0	0	0	0	1	14825	1049	37	1		1	SLCO5A1	8	70744273	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	11196203	70744273	75619749	46	4674											
ASAP1	50807	broad.mit.edu	37	chr8	131414154	131414154	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatagtgaatctctcgaCgaaaaactggagagcctgga	13	9	10	9	2	1	2	0	1	1	1	4	6	2	3	2	2	2	0	2	2	4	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:131414154C>A	uc003yta.2	-	1	264	c.36G>T	c.(34-36)tcG>tcT	p.S12S	ASAP1_uc011liw.2_5'UTR	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	12					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.F11L(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AATCTCTCGACGAAAAACTGG	0.502													A	131414154	C	A	131414154	2	1	72	1	0	0	0	0	0	0	0	1	1015	523	19	4		4	ASAP1	8	131414154	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	60669881	131414154	14949868	47	4675											
SLC45A4	57210	broad.mit.edu	37	chr8	142231734	142231734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacgccaacgcagagggcGaggatgaagggccgccggcg	10	1	19	11	6	0	2	0	1	0	1	0	5	0	4	3	5	1	1	3	5	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:142231734G>A	uc003ywd.1	-	1	527	c.219C>T	c.(217-219)ctC>ctT	p.L73L	SLC45A4_uc003ywc.1_Silent_p.L73L|SLC45A4_uc010meq.1_Silent_p.L71L	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	124					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CGCAGAGGGCGAGGATGAAGG	0.612													A	142231734	G	A	142231734	2	1	72	1	0	0	0	0	0	0	0	1	14737	1045	37	1		1	SLC45A4	8	142231734	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	10817580	142231734	4132288	48	4676											
LRRC14	9684	broad.mit.edu	37	chr8	145746502	145746502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatctggagctgactgaGtgtcagctcgcagacaccca	9	9	11	12	1	2	3	1	2	1	1	3	4	2	4	1	1	3	4	1	1	0	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr8:145746502G>C	uc003zdk.2	+	3	1296	c.1122G>C	c.(1120-1122)gaG>gaC	p.E374D	LRRC14_uc003zdl.2_Missense_Mutation_p.E374D	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	374										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			AGCTGACTGAGTGTCAGCTCG	0.597													C	145746502	G	C	145746502	3	2	72	1	0	0	0	0	1	0	0	0	9038	1020	36	4	1132	4	LRRC14	8	145746502	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3514768	145746502	617520	49	4677											
GDA	9615	broad.mit.edu	37	chr9	74863239	74863239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggaaagcaggtggttcCgttttccagctcagtgtaag	8	10	15	8	2	1	0	1	0	0	0	3	1	3	1	2	4	2	5	2	4	2	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:74863239C>T	uc004air.3	+	13	1555	c.1346C>T	c.(1345-1347)cCg>cTg	p.P449L	GDA_uc011lse.2_Missense_Mutation_p.P375L|GDA_uc004aiq.3_Missense_Mutation_p.P449L|GDA_uc010mow.2_Non-coding_Transcript|GDA_uc011lsf.2_Missense_Mutation_p.P375L|GDA_uc004ais.3_Missense_Mutation_p.P371L	NM_001242505	NP_001229434	Q9Y2T3	GUAD_HUMAN	Homo sapiens guanine deaminase (GDA), transcript variant 1, mRNA.	449					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding	p.P449Q(3)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		CAGGTGGTTCCGTTTTCCAGC	0.443													T	74863239	C	T	74863239	3	4	72	1	0	0	0	0	1	0	0	0	6361	652	23	1	1400	1	GDA	9	74863239	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		74863239	66350192	50	4678											
OR13C3	138803	broad.mit.edu	37	chr9	107298585	107298585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaagccatcaatacataCgccaccttgctcaggatgat	14	8	7	12	1	2	2	2	1	0	1	2	3	2	3	3	1	4	1	3	1	4	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr9:107298585C>T	uc004bcb.1	-	0	510	c.510G>A	c.(508-510)gcG>gcA	p.A170A		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						TCAATACATACGCCACCTTGC	0.468													T	107298585	C	T	107298585	2	4	72	1	0	0	0	0	0	0	0	1	11011	523	19	1		1	OR13C3	9	107298585	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	32435346	107298585	33914846	51	4679											
SVIL	6840	broad.mit.edu	37	chr10	29776136	29776136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactctcctacccacaggaAgcagcagtggggagagagca	14	4	12	11	0	1	1	0	0	1	1	2	4	1	3	2	3	5	3	2	3	3	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:29776136A>G	uc001iut.1	-	23	5194	c.4441T>C	c.(4441-4443)Ttc>Ctc	p.F1481L	LOC387647_uc001iuq.1_Non-coding_Transcript|SVIL_uc010qdw.1_Missense_Mutation_p.F395L|SVIL_uc001iuu.1_Missense_Mutation_p.F1055L|SVIL_uc009xlc.2_Missense_Mutation_p.F273L	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1481	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACCCACAGGAAGCAGCAGTGG	0.517													G	29776136	A	G	29776136	3	3	72	1	0	0	0	0	1	0	0	0	15517	72	3	3	2263	3	SVIL	10	29776136	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		29776136	105758611	52	4680											
C10orf71	118461	broad.mit.edu	37	chr10	50532018	50532018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacccccaggacagctaaaCggataccaagagaaggagcc	15	3	10	13	1	1	1	1	0	0	1	1	5	1	4	4	3	4	1	4	3	5	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:50532018C>T	uc021pqb.1	+	0	1428	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	C10orf71_uc021pqa.1_Silent_p.N475N|C10orf71_uc021pqc.1_Silent_p.N476N	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	476										endometrium(1)	1						GACAGCTAAACGGATACCAAG	0.572													T	50532018	C	T	50532018	2	4	72	1	0	0	0	0	0	0	0	1	1625	535	19	1		1	C10orf71	10	50532018	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	20755882	50532018	85002729	53	4681											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	72	1	0	0	0	0	0	1	0	0	12823	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	39185654	89717672	45817075	54	4682											
MICAL2	9645	broad.mit.edu	37	chr11	12244171	12244171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctccctccagggaaagtCtctaccggctgttacctcag	7	9	9	16	2	2	0	1	0	1	0	5	1	4	1	5	2	2	2	5	2	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:12244171C>A	uc001mjz.3	+	10	1618	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	MICAL2_uc010rch.1_Missense_Mutation_p.L444I|MICAL2_uc001mka.3_Missense_Mutation_p.L444I|MICAL2_uc010rci.2_Missense_Mutation_p.L444I|MICAL2_uc001mkb.3_Missense_Mutation_p.L444I|MICAL2_uc001mkc.3_Missense_Mutation_p.L444I|MICAL2_uc001mkd.3_Missense_Mutation_p.L273I|MICAL2_uc010rcj.2_5'UTR	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	444						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		CAGGGAAAGTCTCTACCGGCT	0.567													A	12244171	C	A	12244171	3	1	72	1	0	0	0	0	1	0	0	0	9645	913	32	4	1364	4	MICAL2	11	12244171	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		12244171	122762345	55	4683											
OR5M10	390167	broad.mit.edu	37	chr11	56344526	56344526	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagaacggatcctgaagatCgctgcaaaaatgaaaagata	18	6	10	7	2	0	5	0	2	0	3	2	6	1	6	1	1	2	3	1	1	7	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:56344526C>T	uc001niz.1	-	0	672	c.672G>A	c.(670-672)gcG>gcA	p.A224A	OR8U8_uc001nit.2_Intron	NM_001004741	NP_001004741	Q6IEU7	OR5MA_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 10 (OR5M10), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						TCCTGAAGATCGCTGCAAAAA	0.443													T	56344526	C	T	56344526	2	4	72	1	0	0	0	0	0	0	0	1	11249	871	31	1		1	OR5M10	11	56344526	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	44100355	56344526	78661990	56	4684											
SLC22A10	387775	broad.mit.edu	37	chr11	63072232	63072232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccctcttgatgaccttaaCggtattttttaccactttgc	7	17	5	12	1	1	2	0	2	1	0	2	2	2	2	4	1	3	1	4	1	3	7			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:63072232C>T	uc009yor.3	+	8	1677	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_3'UTR	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	490						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ATGACCTTAACGGTATTTTTT	0.423													T	63072232	C	T	63072232	3	4	72	1	0	0	0	0	1	0	0	0	14535	536	19	1	1503	1	SLC22A10	11	63072232	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	6727706	63072232	71934284	57	4685											
GRM5	2915	broad.mit.edu	37	chr11	88242179	88242179	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagcatcatggagttgagctCgctgatgttggccgtgaagc	8	10	14	9	2	1	3	1	3	0	0	2	4	1	4	1	2	3	5	1	2	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:88242179C>G	uc001pcq.3	-	8	3420	c.3220G>C	c.(3220-3222)Gag>Cag	p.E1074Q	GRM5_uc009yvm.3_Missense_Mutation_p.E1042Q	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	1074					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GAGTTGAGCTCGCTGATGTTG	0.667													G	88242179	C	G	88242179	3	3	72	1	0	0	0	0	1	0	0	0	6855	893	31	4	422	4	GRM5	11	88242179	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	25169947	88242179	46764337	58	4686											
MAML2	84441	broad.mit.edu	37	chr11	96075000	96075000	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccctccaaggagcccCgccccagaggccccccctag	7	2	10	22	1	0	1	0	0	0	1	1	3	1	2	10	2	2	0	10	2	2	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:96075000C>G	uc001pfw.1	-	0	1345	c.60G>C	c.(58-60)gcG>gcC	p.A20A		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	20					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CAAGGAGCCCCGCCCCAGAGG	0.682			T	"MECT1, CRTC3"	salivary gland mucoepidermoid						OREG0021305	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	96075000	C	G	96075000	2	3	72	1	0	0	0	0	0	0	0	1	9281	639	23	4		4	MAML2	11	96075000	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	7832821	96075000	38931516	59	4687											
PGR	5241	broad.mit.edu	37	chr11	100996783	100996783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttacagctcccacaggtaaGgacaccataatgacagcctg	13	7	8	13	0	0	1	0	1	0	0	1	2	1	2	3	2	3	2	3	2	3	3	rs144880156		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:100996783G>A	uc001pgh.2	-	1	2487	c.1744C>T	c.(1744-1746)Ctt>Ttt	p.L582F	PGR_uc001pgi.2_Missense_Mutation_p.L582F|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	582					cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CCACAGGTAAGGACACCATAA	0.443													A	100996783	G	A	100996783	3	1	72	1	0	0	0	0	1	0	0	0	11882	1000	35	2	1085	2	PGR	11	100996783	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	4921783	100996783	34009733	60	4688											
ELMOD1	55531	broad.mit.edu	37	chr11	107501263	107501263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgttataataccaagccGggagcttctagaaccatgaa	14	10	8	9	1	2	2	0	1	2	1	2	3	2	3	3	1	4	2	3	1	7	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:107501263G>A	uc010rvs.2	+	2	542	c.138G>A	c.(136-138)ccG>ccA	p.P46P	ELMOD1_uc001pjm.3_Silent_p.P46P|ELMOD1_uc010rvt.2_Silent_p.P40P	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	46					phagocytosis	cytoskeleton	GTPase activator activity	p.K45N(1)		endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		ATACCAAGCCGGGAGCTTCTA	0.398													A	107501263	G	A	107501263	2	1	72	1	0	0	0	0	0	0	0	1	5109	1103	39	1		1	ELMOD1	11	107501263	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	6504480	107501263	27505253	61	4689											
C11orf65	160140	broad.mit.edu	37	chr11	108302504	108302504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatatttcactatctgaCgtggttctccttgtcttctt	7	20	5	9	1	5	1	1	1	4	0	6	1	5	1	1	1	0	1	1	1	4	9			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr11:108302504C>T	uc001pkh.3	-	2	213	c.143G>A	c.(142-144)cGt>cAt	p.R48H	C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		CACTATCTGACGTGGTTCTCC	0.303													T	108302504	C	T	108302504	3	4	72	1	0	0	0	0	1	0	0	0	1667	536	19	1	826	1	C11orf65	11	108302504	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	801241	108302504	26704012	62	4690											
NTF3	4908	broad.mit.edu	37	chr12	5603799	5603799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacggcggaaacggtacgCggagcataagagtcaccgag	13	4	14	10	6	2	1	2	0	0	1	2	4	2	3	1	4	3	2	1	4	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:5603799C>T	uc001qnl.4	+	0	502	c.419C>T	c.(418-420)gCg>gTg	p.A140V	NTF3_uc001qnk.4_Missense_Mutation_p.A153V	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	140					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						AAACGGTACGCGGAGCATAAG	0.602													T	5603799	C	T	5603799	3	4	72	1	0	0	0	0	1	0	0	0	10772	768	27	1	464	1	NTF3	12	5603799	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		5603799	128248096	63	4691											
GPR162	10536	broad.mit.edu	37	chr12	6946946	6946946	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagtgcacgcagacaacTgcgtcctggaccctgacacg	10	5	10	16	3	0	2	0	1	0	1	1	3	1	3	3	1	3	2	3	1	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:6946946T>A	uc001qra.1	+	12	1793	c.1759T>A	c.(1759-1761)Tgc>Agc	p.C587S	GPR162_uc001qrb.1_Missense_Mutation_p.C395S|GNB3_uc001qrc.3_5'Flank|GNB3_uc001qrd.3_5'Flank	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CGCAGACAACTGCGTCCTGGA	0.642													A	6946946	T	A	6946946	3	1	72	1	0	0	0	0	1	0	0	0	6720	1580	55	5		5	GPR162	12	6946946	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	1343147	6946946	126904949	64	4692											
CCDC91	55297	broad.mit.edu	37	chr12	28459762	28459762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatggaacaattgcccttGtggatgattctgaggatcct	10	13	11	7	0	1	2	0	2	1	0	2	5	2	5	2	3	2	1	2	3	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:28459762G>A	uc001riq.3	+	3	369	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	CCDC91_uc001rio.3_Missense_Mutation_p.V89M|CCDC91_uc009zjk.3_Non-coding_Transcript|CCDC91_uc001rip.1_Missense_Mutation_p.V119M|CCDC91_uc009zjl.3_5'UTR	NM_018318	NP_060788	Q7Z6B0	CCD91_HUMAN	Homo sapiens coiled-coil domain containing 91 (CCDC91), mRNA.	119					protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					AATTGCCCTTGTGGATGATTC	0.358													A	28459762	G	A	28459762	3	1	72	1	0	0	0	0	1	0	0	0	2898	1377	48	2	369	2	CCDC91	12	28459762	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	21512816	28459762	105392133	65	4693											
SP7	121340	broad.mit.edu	37	chr12	53722081	53722081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggccactgggagggggaCccgggcctggttctccatgg	4	7	19	11	1	1	0	0	0	1	0	2	2	1	2	4	8	0	1	4	8	0	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:53722081C>G	uc001sct.3	-	1	1252	c.1145G>C	c.(1144-1146)gGt>gCt	p.G382A	SP7_uc001scv.3_Missense_Mutation_p.G382A|SP7_uc001scu.3_Missense_Mutation_p.G364A	NM_152860	NP_690599	Q8TDD2	SP7_HUMAN	Homo sapiens Sp7 transcription factor (SP7), transcript variant 2, mRNA.	382					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						GGGAGGGGGACCCGGGCCTGG	0.672											OREG0021867	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	53722081	C	G	53722081	3	3	72	1	0	0	0	0	1	0	0	0	15063	507	18	4	154	4	SP7	12	53722081	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	25262319	53722081	80129814	66	4694											
KSR2	283455	broad.mit.edu	37	chr12	117977618	117977618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggagggggggtgctggCgaggagggcgtggaggacgt	6	4	27	4	3	0	0	0	0	0	0	0	6	0	5	0	10	1	1	0	10	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr12:117977618C>T	uc001two.2	-	9	1561	c.1506G>A	c.(1504-1506)tcG>tcA	p.S502S		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	531					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGGTGCTGGCGAGGAGGGCG	0.627													T	117977618	C	T	117977618	2	4	72	1	0	0	0	0	0	0	0	1	8641	755	27	1		1	KSR2	12	117977618	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	64255537	117977618	15874277	67	4695											
FLT1	2321	broad.mit.edu	37	chr13	28971149	28971149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcccaactttattggaagcTatgcaaatgtagattccaga	13	12	8	8	0	0	2	0	0	0	2	2	3	2	3	2	1	3	3	2	1	6	6			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:28971149T>C	uc001usb.3	-	11	1893	c.1608A>G	c.(1606-1608)atA>atG	p.I536M	FLT1_uc010aar.1_Missense_Mutation_p.I536M|FLT1_uc001usc.3_Missense_Mutation_p.I536M|FLT1_uc010aas.1_Non-coding_Transcript|FLT1_uc010aat.1_Missense_Mutation_p.I19M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	536	Ig-like C2-type 5.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TATTGGAAGCTATGCAAATGT	0.413													C	28971149	T	C	28971149	3	2	72	1	0	0	0	0	1	0	0	0	5990	1512	53	3	2669	3	FLT1	13	28971149	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08		28971149	86198729	68	4696											
BRCA2	675	broad.mit.edu	37	chr13	32937431	32937431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacataatttcattgagcGcaaatatatctgaaacttct	14	14	5	8	1	3	3	1	3	2	0	3	3	3	3	0	0	2	1	0	0	5	6	rs80359052	by1000genomes	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:32937431G>A	uc001uub.1	+	17	8319	c.8092G>A	c.(8092-8094)Gca>Aca	p.A2698T		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	2698					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	p.S2697fs*31(2)		NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTCATTGAGCGCAAATATATC	0.378			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32937431	G	A	32937431	3	1	72	1	0	0	0	0	1	0	0	0	1508	1087	38	1	8158	1	BRCA2	13	32937431	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	3966282	32937431	82232447	69	4697											
RB1	5925	broad.mit.edu	37	chr13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgtttgtttgtagCgatacaaacttggagttcgc	7	19	9	6	2	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	9	rs3092891		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48953730	C	T	48953730	4	4	72	1	0	0	0	0	0	1	0	0	13186	782	27	1	1387	1	RB1	13	48953730	Nonsense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	16016299	48953730	66216148	70	4698											
IPO5	3843	broad.mit.edu	37	chr13	98641352	98641352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagtggcccgaaggtttgaAgttcctttttgattcagtca	8	14	10	9	1	2	2	2	2	0	0	3	3	3	2	3	2	0	2	3	2	2	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr13:98641352A>T	uc001vne.3	+	6	635	c.455A>T	c.(454-456)aAg>aTg	p.K152M	IPO5_uc001vnf.1_Missense_Mutation_p.K134M|IPO5_uc010tik.1_Intron|IPO5_uc010til.1_Missense_Mutation_p.K74M	NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	134					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GAAGGTTTGAAGTTCCTTTTT	0.383													T	98641352	A	T	98641352	3	4	72	1	0	0	0	0	1	0	0	0	7854	72	3	5	473	5	IPO5	13	98641352	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	49687622	98641352	16528526	71	4699											
SLC22A17	51310	broad.mit.edu	37	chr14	23820969	23820969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagccctcacctgtctgcGgggtaacccaggaacaggta	10	6	12	13	1	2	0	1	0	1	0	2	2	2	1	3	4	4	2	3	4	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:23820969G>A	uc001wjl.3	-	1	600	c.363C>T	c.(361-363)ccC>ccT	p.P121P	SLC22A17_uc010akk.3_5'UTR|SLC22A17_uc001wjm.3_Silent_p.P121P|SLC22A17_uc001wjn.3_Intron|SLC22A17_uc010akl.1_Silent_p.P121P	NM_020372	NP_065105	Q8WUG5	S22AH_HUMAN	Homo sapiens solute carrier family 22, member 17 (SLC22A17), transcript variant 1, mRNA.	121					siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		ACCTGTCTGCGGGGTAACCCA	0.617													A	23820969	G	A	23820969	2	1	72	1	0	0	0	0	0	0	0	1	14542	1103	39	1		1	SLC22A17	14	23820969	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08		23820969	83528571	72	4700											
FSCB	84075	broad.mit.edu	37	chr14	44975096	44975096	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtggaggcagaatttcAgcaggaggctcttctgaagg	9	9	16	7	0	3	2	1	1	2	1	3	4	3	4	0	6	1	4	0	6	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:44975096A>G	uc001wvn.3	-	0	1404	c.1095T>C	c.(1093-1095)gcT>gcC	p.A365A		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	365	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GCAGAATTTCAGCAGGAGGCT	0.493													G	44975096	A	G	44975096	2	3	72	1	0	0	0	0	0	0	0	1	6118	175	7	3		3	FSCB	14	44975096	Silent	SNP	A	TCGA-06-0939-01A-01D-1353-08	21154127	44975096	62374444	73	4701											
PCNX	22990	broad.mit.edu	37	chr14	71444226	71444226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcagtggaacggaccGggacactaacagtactgtca	12	7	11	11	2	1	0	1	0	0	0	1	3	1	3	1	3	5	2	1	3	4	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:71444226G>A	uc001xmo.2	+	5	1618	c.1172G>A	c.(1171-1173)cGg>cAg	p.R391Q	PCNX_uc001xmn.4_Missense_Mutation_p.R391Q|PCNX_uc010are.1_Missense_Mutation_p.R391Q	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	391						integral to membrane		p.R391P(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGAACGGACCGGGACACTAAC	0.498													A	71444226	G	A	71444226	3	1	72	1	0	0	0	0	1	0	0	0	11667	1116	39	1	1194	1	PCNX	14	71444226	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	26469130	71444226	35905314	74	4702											
ESRRB	2103	broad.mit.edu	37	chr14	76964704	76964704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgctgctgcggcagaCggccgccaaggccgtgcagc	6	4	15	16	5	0	1	0	0	0	1	0	1	0	1	4	3	5	4	4	3	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:76964704C>T	uc001xsr.3	+	8	1576	c.1205C>T	c.(1204-1206)aCg>aTg	p.T402M	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.T402M	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	402						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CTGCGGCAGACGGCCGCCAAG	0.627													T	76964704	C	T	76964704	3	4	72	1	0	0	0	0	1	0	0	0	5302	536	19	1	1227	1	ESRRB	14	76964704	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	5520478	76964704	30384836	75	4703											
BCL11B	64919	broad.mit.edu	37	chr14	99640778	99640778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacaccttgccgcagtactCgcacgtgtcgctgcggcggc	6	7	13	15	6	0	0	0	0	0	0	2	1	0	0	2	2	4	4	2	2	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr14:99640778C>T	uc001yga.3	-	3	2662	c.2395G>A	c.(2395-2397)Gag>Aag	p.E799K	BCL11B_uc001ygb.3_Missense_Mutation_p.E728K	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	799						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CCGCAGTACTCGCACGTGTCG	0.721			T	TLX3	T-ALL								T	99640778	C	T	99640778	3	4	72	1	0	0	0	0	1	0	0	0	1369	893	31	1	293	1	BCL11B	14	99640778	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	22676074	99640778	7708762	76	4704											
FAM82A2	55177	broad.mit.edu	37	chr15	41046948	41046948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagtcccagcccggCacgggcaccacccagggctc	9	2	11	19	2	0	0	0	0	0	0	2	0	1	0	4	3	3	4	4	3	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41046948C>T	uc001zmp.1	-	1	219	c.34G>A	c.(34-36)Gcc>Acc	p.A12T	FAM82A2_uc001zmo.1_Missense_Mutation_p.A12T|FAM82A2_uc001zmq.1_Missense_Mutation_p.A12T	NM_018145	NP_060615	Q96TC7	RMD3_HUMAN	Homo sapiens family with sequence similarity 82, member A2 (FAM82A2), mRNA.	12					apoptosis|cell differentiation	integral to membrane|microtubule|mitochondrial membrane|nucleus|spindle pole	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	11						CCCAGCCCGGCACGGGCACCA	0.687													T	41046948	C	T	41046948	3	4	72	1	0	0	0	0	1	0	0	0	5681	710	25	2	1426	2	FAM82A2	15	41046948	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		41046948	61484444	77	4705											
SPINT1	6692	broad.mit.edu	37	chr15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctctggggctcaggCgactttcccccagggtgagt	6	8	15	12	1	2	1	1	1	1	0	3	2	3	1	2	5	1	3	2	5	0	1	rs145193299		TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													T	41146113	C	T	41146113	3	4	72	1	0	0	0	0	1	0	0	0	15164	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	99165	41146113	61385279	78	4706											
TP53BP1	7158	broad.mit.edu	37	chr15	43748820	43748820	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagaccctgaagacccCtcctctggatggtgttcttt	7	12	8	14	0	3	3	1	1	2	2	4	4	4	4	5	2	0	1	5	2	1	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr15:43748820C>T	uc001zrs.3	-	11	2119	c.1971G>A	c.(1969-1971)gaG>gaA	p.E657E	TP53BP1_uc010udp.2_Silent_p.E657E|TP53BP1_uc001zrq.4_Silent_p.E662E|TP53BP1_uc001zrr.4_Silent_p.E662E|TP53BP1_uc010udq.1_Silent_p.E662E	NM_005657	NP_005648	Q12888	TP53B_HUMAN	Homo sapiens tumor protein p53 binding protein 1 (TP53BP1), transcript variant 3, mRNA.	657					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CTGAAGACCCCTCCTCTGGAT	0.483								Other conserved DNA damage response genes					T	43748820	C	T	43748820	2	4	72	1	0	0	0	0	0	0	0	1	16484	680	24	2		2	TP53BP1	15	43748820	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	2602707	43748820	58782572	79	4707											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401546	77401546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacccgcaggggagctgtaGttgtgttcctgggccagaag	7	9	16	9	1	0	2	0	1	0	1	1	3	1	3	3	3	1	5	3	3	2	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr16:77401546G>T	uc002ffc.4	-	3	989	c.570C>A	c.(568-570)aaC>aaA	p.N190K	ADAMTS18_uc002ffe.1_5'UTR|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	190					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GGGAGCTGTAGTTGTGTTCCT	0.502													T	77401546	G	T	77401546	3	4	72	1	0	0	0	0	1	0	0	0	263	1020	36	4	3175	4	ADAMTS18	16	77401546	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		77401546	12953207	80	4708											
OR1E2	8388	broad.mit.edu	37	chr17	3336801	3336801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggccacaaggaggaagCtctctagatccgaaaaatac	15	6	9	11	1	1	1	0	0	1	1	3	4	2	3	3	3	2	1	3	3	6	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3336801C>T	uc010vre.2	-	0	335	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_003554	NP_003545	P47887	OR1E2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily E, member 2 (OR1E2), mRNA.	112					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AAGGAGGAAGCTCTCTAGATC	0.522													T	3336801	C	T	3336801	3	4	72	1	0	0	0	0	1	0	0	0	11031	797	28	2	639	2	OR1E2	17	3336801	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08		3336801	77858409	81	4709											
TRPV1	7442	broad.mit.edu	37	chr17	3486725	3486725	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatcttaaagggaggCtgtgagatgcagagaagttg	11	12	13	5	0	1	2	0	1	1	2	2	5	2	3	1	2	1	3	1	2	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:3486725C>G	uc010vro.2	-	9	1450	c.1417_splice	c.e9-1	p.P473_splice	TRPV1_uc010vrp.2_Splice_Site_p.P402_splice|TRPV1_uc010vrq.2_Splice_Site_p.P460_splice|TRPV1_uc010vrr.2_Splice_Site_p.P462_splice|TRPV1_uc010vrs.2_Splice_Site_p.P462_splice|TRPV1_uc010vrt.2_Splice_Site_p.P462_splice|TRPV1_uc010vru.2_Splice_Site_p.P462_splice	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	462					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAAAGGGAGGCTGTGAGATGC	0.473													G	3486725	C	G	3486725	5	3	72	1	0	0	0	0	0	0	1	0	16696	811	28	4	841	4	TRPV1	17	3486725	Splice_Site	SNP	C	TCGA-06-0939-01A-01D-1353-08	149924	3486725	77708485	82	4710											
PLXDC1	57125	broad.mit.edu	37	chr17	37295949	37295949	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagcgtgtccatggccagGgtgcccccacccaggtcctg	5	6	14	16	1	0	0	0	0	0	0	2	0	2	0	6	4	2	1	6	4	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:37295949G>T	uc002hrg.2	-	1	425	c.213C>A	c.(211-213)acC>acA	p.T71T	PLXDC1_uc002hrh.2_Non-coding_Transcript|PLXDC1_uc002hri.2_Non-coding_Transcript|PLXDC1_uc002hrj.1_Non-coding_Transcript|PLXDC1_uc002hrk.1_Non-coding_Transcript	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	71					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATGGCCAGGGTGCCCCCAC	0.672													T	37295949	G	T	37295949	2	4	72	1	0	0	0	0	0	0	0	1	12194	1219	43	4		4	PLXDC1	17	37295949	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	33809224	37295949	43899261	83	4711											
KRT13	3860	broad.mit.edu	37	chr17	39661434	39661434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggcctcctccagggcGcgcaccttctccaggtagga	5	8	13	15	3	1	0	0	0	1	0	4	1	3	1	5	4	0	3	5	4	1	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:39661434G>A	uc002hwu.1	-	0	432	c.369C>T	c.(367-369)cgC>cgT	p.R123R	KRT13_uc002hwv.1_Silent_p.R123R|KRT13_uc010wfr.2_Silent_p.R16R|KRT13_uc010cxo.3_Silent_p.R123R|KRT13_uc021txk.1_Silent_p.R16R	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	123	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				CCTCCAGGGCGCGCACCTTCT	0.597													A	39661434	G	A	39661434	2	1	72	1	0	0	0	0	0	0	0	1	8508	1074	38	1		1	KRT13	17	39661434	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	2365485	39661434	41533776	84	4712											
HLF	3131	broad.mit.edu	37	chr17	53398080	53398080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcagccaagcgctcccGcgacgcccggaggctgaaag	9	3	14	15	5	0	1	0	1	0	0	1	3	1	2	3	3	2	3	3	3	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:53398080G>A	uc002iug.1	+	3	1253	c.728G>A	c.(727-729)cGc>cAc	p.R243H	HLF_uc010dce.1_Missense_Mutation_p.R158H|HLF_uc002iuh.2_Missense_Mutation_p.R158H|HLF_uc010wni.1_Missense_Mutation_p.R190H	NM_002126	NP_002117	Q16534	HLF_HUMAN	Homo sapiens hepatic leukemia factor (HLF), mRNA.	243					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						AAGCGCTCCCGCGACGCCCGG	0.547			T	TCF3	ALL								A	53398080	G	A	53398080	3	1	72	1	0	0	0	0	1	0	0	0	7269	1087	38	1	742	1	HLF	17	53398080	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	13736646	53398080	27797130	85	4713											
TLK2	11011	broad.mit.edu	37	chr17	60679467	60679467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attacagattttggtctttcGaagatcatggatgatgatag	12	15	10	4	1	2	4	1	2	1	2	3	6	2	5	0	2	1	0	0	2	3	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:60679467G>A	uc010ddp.3	+	19	2119	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S	TLK2_uc002izx.4_Silent_p.S443S|TLK2_uc002izz.4_Silent_p.S595S|TLK2_uc002jaa.4_Silent_p.S563S|TLK2_uc010wpd.2_Silent_p.S563S	NM_006852	NP_006843	Q86UE8	TLK2_HUMAN	Homo sapiens tousled-like kinase 2 (TLK2), transcript variant A, mRNA.	617	Protein kinase.				cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTGGTCTTTCGAAGATCATGG	0.383													A	60679467	G	A	60679467	2	1	72	1	0	0	0	0	0	0	0	1	16044	1045	37	1		1	TLK2	17	60679467	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	7281387	60679467	20515743	86	4714											
ABCA10	10349	broad.mit.edu	37	chr17	67181653	67181653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggctggtaagaggcGtcttcgggatttgttccaga	9	12	13	7	2	1	2	0	0	1	2	3	3	2	3	1	4	1	3	1	4	2	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:67181653G>A	uc010dfa.1	-	20	3341	c.2462C>T	c.(2461-2463)aCg>aTg	p.T821M	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.T422M	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	821					transport	integral to membrane	ATP binding|ATPase activity	p.K820N(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GGTAAGAGGCGTCTTCGGGAT	0.363													A	67181653	G	A	67181653	3	1	72	1	0	0	0	0	1	0	0	0	29	1145	40	1	2249	1	ABCA10	17	67181653	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6502186	67181653	14013557	87	4715											
P4HB	5034	broad.mit.edu	37	chr17	79804920	79804920	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaggatgtgagtcttgAtttcacctccaaaaatcttc	12	12	7	10	0	3	2	1	2	2	0	5	3	4	3	2	1	1	1	2	1	2	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr17:79804920A>C	uc002kbn.1	-	5	955	c.758T>G	c.(757-759)aTc>aGc	p.I253S	P4HB_uc002kbl.1_Intron|P4HB_uc002kbm.1_5'UTR	NM_000918	NP_000909	P07237	PDIA1_HUMAN	Homo sapiens prolyl 4-hydroxylase, beta polypeptide (P4HB), mRNA.	253					cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			GTGAGTCTTGATTTCACCTCC	0.468													C	79804920	A	C	79804920	3	2	72	1	0	0	0	0	1	0	0	0	11435	333	12	5	792	5	P4HB	17	79804920	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08	12623267	79804920	1390290	88	4716											
LAMA3	3909	broad.mit.edu	37	chr18	21492813	21492813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaatgggggtactgagAatatgtttgtgatgtacctt	12	13	13	3	0	0	3	0	2	0	2	0	5	0	3	1	2	2	3	1	2	6	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr18:21492813A>G	uc002kuq.3	+	55	7383	c.7297A>G	c.(7297-7299)Aat>Gat	p.N2433D	LAMA3_uc002kur.3_Missense_Mutation_p.N2377D|LAMA3_uc002kus.4_Missense_Mutation_p.N824D|LAMA3_uc002kut.4_Missense_Mutation_p.N768D	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2433	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGTACTGAGAATATGTTTGT	0.398													G	21492813	A	G	21492813	3	3	72	1	0	0	0	0	1	0	0	0	8666	246	9	3	7694	3	LAMA3	18	21492813	Missense_Mutation	SNP	A	TCGA-06-0939-01A-01D-1353-08		21492813	56584435	89	4717											
CATSPERG	57828	broad.mit.edu	37	chr19	38851477	38851477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccactatgacttggagcGgaaagggtgagaagacaccg	13	5	14	9	2	0	3	0	2	0	2	0	6	0	5	2	3	2	0	2	3	3	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:38851477G>A	uc002oih.4	+	15	1961	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q	CATSPERG_uc002oig.4_Missense_Mutation_p.R585Q|CATSPERG_uc002oif.4_Missense_Mutation_p.R265Q|CATSPERG_uc010efw.3_Non-coding_Transcript	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN	Homo sapiens cation channel, sperm-associated, gamma (CATSPERG), mRNA.	625					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.T625T(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						GACTTGGAGCGGAAAGGGTGA	0.572													A	38851477	G	A	38851477	3	1	72	1	0	0	0	0	1	0	0	0	2718	1116	39	1	1932	1	CATSPERG	19	38851477	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		38851477	20277506	90	4718											
ZNF780A	284323	broad.mit.edu	37	chr19	40580618	40580618	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttctcaccagtatgcaaTttctgatgtcgaataaggtg	10	14	10	7	1	2	1	1	1	2	0	4	2	2	1	1	2	1	3	1	2	4	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:40580618T>C	uc010xvh.2	-	5	1882	c.1734A>G	c.(1732-1734)aaA>aaG	p.K578K	ZNF780A_uc002omw.4_Intron|ZNF780A_uc002omy.3_Silent_p.K577K|ZNF780A_uc002omz.3_Silent_p.K577K	NM_001142577	NP_001136049	O75290	Z780A_HUMAN	Homo sapiens zinc finger protein 780A (ZNF780A), transcript variant 1, mRNA.	577					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CAGTATGCAATTTCTGATGTC	0.388													C	40580618	T	C	40580618	2	2	72	1	0	0	0	0	0	0	0	1	18251	1490	52	3		3	ZNF780A	19	40580618	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	1729141	40580618	18548365	91	4719											
PPFIA3	8541	broad.mit.edu	37	chr19	49633717	49633717	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccctggagcggcagcgcgCcgaggtgtgccagctgcggg	4	4	20	13	5	0	0	0	0	0	0	0	2	0	1	3	5	5	2	3	5	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:49633717C>G	uc002pmr.3	+	6	1072	c.740C>G	c.(739-741)gCc>gGc	p.A247G	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc010emt.3_Missense_Mutation_p.A171G|PPFIA3_uc010yaj.1_Non-coding_Transcript|PPFIA3_uc002pms.3_Missense_Mutation_p.A115G	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	247						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGGCAGCGCGCCGAGGTGTGC	0.692													G	49633717	C	G	49633717	3	3	72	1	0	0	0	0	1	0	0	0	12388	739	26	4	762	4	PPFIA3	19	49633717	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	9053099	49633717	9495266	92	4720											
ZNF544	27300	broad.mit.edu	37	chr19	58772416	58772416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatggtactcacctcagaGagactgtttgctcaaaggga	11	11	10	9	0	4	2	4	0	0	2	4	4	4	3	1	2	2	3	1	2	2	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr19:58772416G>C	uc010euo.3	+	6	918	c.444G>C	c.(442-444)gaG>gaC	p.E148D	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.E120D|ZNF544_uc010yhy.2_Missense_Mutation_p.E120D|ZNF544_uc002qrt.4_Missense_Mutation_p.E6D|ZNF544_uc002qru.4_Missense_Mutation_p.E6D|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	148					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TCACCTCAGAGAGACTGTTTG	0.448													C	58772416	G	C	58772416	3	2	72	1	0	0	0	0	1	0	0	0	18078	933	33	4	458	4	ZNF544	19	58772416	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	9138699	58772416	356567	93	4721											
MYH7B	57644	broad.mit.edu	37	chr20	33586908	33586908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagggcgtggaggctGccaacgccaagtgctcatcg	9	5	16	11	3	1	1	1	0	0	1	2	3	1	3	2	4	3	2	2	4	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:33586908G>A	uc002xbi.2	+	35	4683	c.4366G>A	c.(4366-4368)Gcc>Acc	p.A1456T		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1414						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGTGGAGGCTGCCAACGCCAA	0.607													A	33586908	G	A	33586908	3	1	72	1	0	0	0	0	1	0	0	0	10116	1319	46	2	4500	2	MYH7B	20	33586908	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		33586908	29438612	94	4722											
SALL4	57167	broad.mit.edu	37	chr20	50407987	50407987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccacagtggagaaagggctCtggaagagcaccgagcccgg	11	3	16	11	2	1	2	0	0	1	2	1	5	1	3	3	4	2	2	3	4	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:50407987C>T	uc002xwh.4	-	1	1136	c.1035G>A	c.(1033-1035)caG>caA	p.Q345Q	SALL4_uc010gii.3_Silent_p.Q345Q|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	345					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGAAAGGGCTCTGGAAGAGCA	0.632													T	50407987	C	T	50407987	2	4	72	1	0	0	0	0	0	0	0	1	13904	912	32	2		2	SALL4	20	50407987	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	16821079	50407987	12617533	95	4723											
COL20A1	57642	broad.mit.edu	37	chr20	61942767	61942767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctgcctccgccccgggCgctgaccctggccgcagtga	4	6	12	19	4	1	2	0	2	1	0	2	2	2	2	7	2	1	2	7	2	0	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr20:61942767C>T	uc011aau.2	+	11	1515	c.1415C>T	c.(1414-1416)gCg>gTg	p.A472V	COL20A1_uc011aav.2_Missense_Mutation_p.A293V	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	472	Fibronectin type-III 3.				cell adhesion	collagen|extracellular space	structural molecule activity	p.R471L(1)		NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCGCCCCGGGCGCTGACCCTG	0.687													T	61942767	C	T	61942767	3	4	72	1	0	0	0	0	1	0	0	0	3710	768	27	1	1457	1	COL20A1	20	61942767	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	11534780	61942767	1082753	96	4724											
CCT8L2	150160	broad.mit.edu	37	chr22	17072541	17072541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgtgagggtctcctcGtcgacctcccccaacaccac	7	7	9	18	2	1	1	0	1	1	0	5	2	2	1	6	1	1	0	6	1	1	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:17072541G>A	uc002zlp.1	-	0	1160	c.900C>T	c.(898-900)gaC>gaT	p.D300D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	300					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GGGTCTCCTCGTCGACCTCCC	0.493													A	17072541	G	A	17072541	2	1	72	1	0	0	0	0	0	0	0	1	2991	1136	40	1		1	CCT8L2	22	17072541	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08		17072541	34232025	97	4725											
PARVG	64098	broad.mit.edu	37	chr22	44586519	44586519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctctccctcccaaccaaCgtccaggtggaggtcatcac	9	7	8	17	1	3	0	2	0	1	0	6	2	5	1	5	3	2	0	5	3	2	0	rs3842780	byFrequency	TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chr22:44586519C>T	uc011aqe.2	+	6	901	c.477C>T	c.(475-477)aaC>aaT	p.N159N	PARVG_uc003bep.3_Silent_p.N159N|PARVG_uc011aqf.2_Silent_p.N159N|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	159					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TCCCAACCAACGTCCAGGTGG	0.602													T	44586519	C	T	44586519	2	4	72	1	0	0	0	0	0	0	0	1	11546	535	19	1		1	PARVG	22	44586519	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	27513978	44586519	6718047	98	4726											
FIGF	2277	broad.mit.edu	37	chrX	15364311	15364311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctcctttggaaagcGgcaatgctttgcacatgctg	7	14	9	11	1	1	0	0	0	1	0	2	1	1	1	2	2	4	4	2	2	2	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:15364311G>A	uc004cwt.2	-	6	1476	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	337					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TTTGGAAAGCGGCAATGCTTT	0.478													A	15364311	G	A	15364311	3	1	72	1	0	0	0	0	1	0	0	0	5938	1116	39	1	59	1	FIGF	23	15364311	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08		15364311	139906249	99	4727											
PTCHD1	139411	broad.mit.edu	37	chrX	23397772	23397772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taattacacgtttgcccataTatgtatcctgaataatgata	14	15	5	7	1	0	2	0	2	0	0	1	2	1	2	2	0	2	2	2	0	8	8			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:23397772T>C	uc004dal.4	+	1	424	c.416T>C	c.(415-417)aTa>aCa	p.I139T	PTCHD1_uc010nfu.2_Missense_Mutation_p.I139T	NM_173495	NP_775766	Q96NR3	PTHD1_HUMAN	Homo sapiens patched domain containing 1 (PTCHD1), mRNA.	139					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TTTGCCCATATATGTATCCTG	0.433													C	23397772	T	C	23397772	3	2	72	1	0	0	0	0	1	0	0	0	12817	1406	49	3	422	3	PTCHD1	23	23397772	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	8033461	23397772	131872788	100	4728											
CYBB	1536	broad.mit.edu	37	chrX	37665738	37665738	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggaaaggaacaatgcCggcttcctcagctacaacat	14	7	9	11	1	1	0	1	0	0	0	2	2	2	2	2	3	6	3	2	3	5	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:37665738C>T	uc004ddr.2	+	10	1474	c.1413C>T	c.(1411-1413)gcC>gcT	p.A471A	CYBB_uc011mkf.1_Silent_p.A439A|CYBB_uc011mkg.1_Silent_p.A204A	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	471					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GGAACAATGCCGGCTTCCTCA	0.527													T	37665738	C	T	37665738	2	4	72	1	0	0	0	0	0	0	0	1	4166	639	23	1		1	CYBB	23	37665738	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	14267966	37665738	117604822	101	4729											
PAGE1	8712	broad.mit.edu	37	chrX	49455937	49455937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcacacccagtcttTggctgaaccagttcctggct	8	10	8	15	0	2	1	1	1	1	0	3	1	3	1	4	2	2	4	4	2	2	2			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:49455937T>C	uc004dom.3	-	3	340	c.207A>G	c.(205-207)ccA>ccG	p.P69P		NM_003785	NP_003776	O75459	GAGB1_HUMAN	Homo sapiens P antigen family, member 1 (prostate associated) (PAGE1), mRNA.	69					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					ACCCAGTCTTTGGCTGAACCA	0.438													C	49455937	T	C	49455937	2	2	72	1	0	0	0	0	0	0	0	1	11465	1799	63	3		3	PAGE1	23	49455937	Silent	SNP	T	TCGA-06-0939-01A-01D-1353-08	11790199	49455937	105814623	102	4730											
FOXR2	139628	broad.mit.edu	37	chrX	55650496	55650496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagcccccacaaaaagacGaagggtctaactgctcagag	14	5	9	13	1	3	2	2	0	1	2	3	3	3	2	2	1	3	1	2	1	4	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:55650496G>A	uc004duo.3	+	0	664	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	118					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAAAAAGACGAAGGGTCTAA	0.527													A	55650496	G	A	55650496	3	1	72	1	0	0	0	0	1	0	0	0	6083	1059	37	1	354	1	FOXR2	23	55650496	Missense_Mutation	SNP	G	TCGA-06-0939-01A-01D-1353-08	6194559	55650496	99620064	103	4731											
SLC7A3	84889	broad.mit.edu	37	chrX	70148360	70148360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagtcctcttctgtgagcTtccagttgtgcacgtccccc	4	13	9	15	2	2	1	0	1	2	0	5	1	5	1	4	0	2	4	4	0	1	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:70148360T>C	uc004dyn.3	-	3	827	c.653A>G	c.(652-654)aAg>aGg	p.K218R	SLC7A3_uc004dyo.3_Missense_Mutation_p.K218R	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	218					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	TTCTGTGAGCTTCCAGTTGTG	0.507													C	70148360	T	C	70148360	3	2	72	1	0	0	0	0	1	0	0	0	14792	1609	56	3	1242	3	SLC7A3	23	70148360	Missense_Mutation	SNP	T	TCGA-06-0939-01A-01D-1353-08	14497864	70148360	85122200	104	4732											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912605	77912605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagcggcctttgtgccaaCggacccattcagcttcactg	9	10	9	13	2	2	0	2	0	0	0	2	1	2	1	3	2	4	1	3	2	2	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:77912605C>T	uc022bzi.1	-	0	1313	c.1313G>A	c.(1312-1314)cGt>cAt	p.R438H	ZCCHC5_uc004edc.1_Missense_Mutation_p.R438H	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	438							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTTGTGCCAACGGACCCATTC	0.547													T	77912605	C	T	77912605	3	4	72	1	0	0	0	0	1	0	0	0	17692	536	19	1	118	1	ZCCHC5	23	77912605	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	7764245	77912605	77357955	105	4733											
RNF113A	7737	broad.mit.edu	37	chrX	119005259	119005259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctctggtcccacgggtttCgccgaacgggtggatttata	6	12	12	11	4	1	0	0	0	1	0	4	2	3	1	3	4	1	1	3	4	3	4			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:119005259C>T	uc004esb.3	-	0	533	c.318G>A	c.(316-318)gcG>gcA	p.A106A	NDUFA1_uc004esc.4_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	Homo sapiens ring finger protein 113A (RNF113A), mRNA.	106							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						CCACGGGTTTCGCCGAACGGG	0.552													T	119005259	C	T	119005259	2	4	72	1	0	0	0	0	0	0	0	1	13518	871	31	1		1	RNF113A	23	119005259	Silent	SNP	C	TCGA-06-0939-01A-01D-1353-08	41092654	119005259	36265301	106	4734											
ENOX2	10495	broad.mit.edu	37	chrX	129759313	129759313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagcttcaagccctcgaagCcacagaatttccatctcttt	10	12	5	14	1	3	1	2	0	1	1	6	2	4	1	3	0	3	1	3	0	3	3			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:129759313C>A	uc004evw.3	-	15	2226	c.1808G>T	c.(1807-1809)gGc>gTc	p.G603V	ENOX2_uc004evx.3_Missense_Mutation_p.G574V|ENOX2_uc004evy.3_Missense_Mutation_p.G574V|ENOX2_uc004evv.3_Missense_Mutation_p.G428V	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	603					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						GCCCTCGAAGCCACAGAATTT	0.438													A	129759313	C	A	129759313	3	1	72	1	0	0	0	0	1	0	0	0	5168	739	26	4	28	4	ENOX2	23	129759313	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	10754054	129759313	25511247	107	4735											
SLITRK2	84631	broad.mit.edu	37	chrX	144904765	144904765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccagtgattccagtcagagGggcagccatgctgacaccca	10	6	12	13	0	1	3	1	2	0	1	2	3	2	3	4	2	2	2	4	2	0	1			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:144904765G>A	uc022cfn.1	+	0	822	c.822G>A	c.(820-822)agG>agA	p.R274R	SLITRK2_uc004fcd.3_Silent_p.R274R|SLITRK2_uc010nsp.3_Silent_p.R274R|SLITRK2_uc010nso.3_Silent_p.R274R|SLITRK2_uc011mwq.2_Silent_p.R274R|SLITRK2_uc011mwr.2_Silent_p.R274R|SLITRK2_uc011mws.2_Silent_p.R274R|SLITRK2_uc004fcg.3_Silent_p.R274R|SLITRK2_uc011mwt.2_Silent_p.R274R	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	274						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTCAGAGGGGCAGCCATG	0.557													A	144904765	G	A	144904765	2	1	72	1	0	0	0	0	0	0	0	1	14837	1223	43	2		2	SLITRK2	23	144904765	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	15145452	144904765	10365795	108	4736											
MTM1	4534	broad.mit.edu	37	chrX	149832009	149832009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaatcgagttttatatcCagttgccagtatgcgtcact	11	14	7	9	2	2	0	2	0	0	0	4	1	3	0	2	0	2	3	2	0	5	5			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:149832009C>T	uc004fef.4	+	13	1647	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.P487L|MTM1_uc011mxz.2_Missense_Mutation_p.P409L|MTM1_uc010nte.3_Missense_Mutation_p.P392L	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	524	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					GTTTTATATCCAGTTGCCAGT	0.358													T	149832009	C	T	149832009	3	4	72	1	0	0	0	0	1	0	0	0	10013	594	21	2	1621	2	MTM1	23	149832009	Missense_Mutation	SNP	C	TCGA-06-0939-01A-01D-1353-08	4927244	149832009	5438551	109	4737											
HCFC1	3054	broad.mit.edu	37	chrX	153229664	153229664	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagggagaagctgtgcccGagtcgaggacacggaggggg	11	3	19	8	3	0	1	0	0	0	1	1	6	0	3	1	5	2	1	1	5	2	0			TCGA-06-0939-01A-01D-1353-08	TCGA-06-0939-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1a0aa7-2b4e-4479-966f-9de854b9dddc	6a8ffcc4-f3eb-4430-a734-8a2a46fbfd95	g.chrX:153229664G>T	uc004fjp.3	-	2	942	c.414C>A	c.(412-414)ctC>ctA	p.L138L		NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	138					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGTGCCCGAGTCGAGGAC	0.562													T	153229664	G	T	153229664	2	4	72	1	0	0	0	0	0	0	0	1	7046	1045	37	4		4	HCFC1	23	153229664	Silent	SNP	G	TCGA-06-0939-01A-01D-1353-08	3397655	153229664	2040896	110	4738											
ATP13A2	23400	broad.mit.edu	37	chr1	17316634	17316634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctcaccttaacgccattCacggctgtgggggactccat	8	9	10	14	2	2	0	2	0	0	0	3	1	3	1	4	3	2	1	4	3	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:17316634C>T	uc001baa.2	-	20	2590	c.2400G>A	c.(2398-2400)gtG>gtA	p.V800V	ATP13A2_uc001bac.2_Silent_p.V795V|ATP13A2_uc001bab.2_Silent_p.V795V	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	800					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TAACGCCATTCACGGCTGTGG	0.642													T	17316634	C	T	17316634	2	4	73	1	0	0	0	0	0	0	0	1	1129	813	29	2		2	ATP13A2	1	17316634	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		17316634	231933987	1	4739											
TAS1R2	80834	broad.mit.edu	37	chr1	19166669	19166669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctggaaagaacgcacggcGatacaggagatgcagattgt	14	7	13	7	3	1	3	0	0	1	3	1	6	1	4	0	3	3	2	0	3	3	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:19166669G>A	uc001bba.1	-	5	1945	c.1944C>T	c.(1942-1944)atC>atT	p.I648I		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	648					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	AACGCACGGCGATACAGGAGA	0.627													A	19166669	G	A	19166669	2	1	73	1	0	0	0	0	0	0	0	1	15660	1048	37	1		1	TAS1R2	1	19166669	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	1850035	19166669	230083952	2	4740											
KIF17	57576	broad.mit.edu	37	chr1	21009290	21009290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctgcgctcgtctgcGtagcgcttgcgccgcttgtg	1	13	13	14	6	1	0	0	0	1	0	3	0	2	0	2	0	5	5	2	0	1	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:21009290G>A	uc001bdr.4	-	10	2437	c.2319C>T	c.(2317-2319)taC>taT	p.Y773Y	KIF17_uc001bdp.4_Silent_p.Y51Y|KIF17_uc009vpx.3_Silent_p.Y143Y|KIF17_uc001bds.4_Silent_p.Y773Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	773					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCTCGTCTGCGTAGCGCTTGC	0.622													A	21009290	G	A	21009290	2	1	73	1	0	0	0	0	0	0	0	1	8337	1140	40	1		1	KIF17	1	21009290	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	1842621	21009290	228241331	3	4741											
GJB4	127534	broad.mit.edu	37	chr1	35227336	35227336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattatgacatgccccgcGtggtggcctgctccgtggag	6	9	15	11	3	0	1	0	1	0	0	1	3	1	3	4	4	2	1	4	4	1	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:35227336G>A	uc001bxw.4	+	0	481	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	GJB4_uc001bxv.1_Missense_Mutation_p.V161M	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	161					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				CATGCCCCGCGTGGTGGCCTG	0.582													A	35227336	G	A	35227336	3	1	73	1	0	0	0	0	1	0	0	0	6466	1145	40	1	483	1	GJB4	1	35227336	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	14218046	35227336	214023285	4	4742											
CD53	963	broad.mit.edu	37	chr1	111439300	111439300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtggtataaatggcaCgagtgattggaccagtggcc	9	11	15	6	1	0	1	0	1	0	0	0	3	0	2	2	4	0	3	2	4	3	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:111439300C>T	uc001dzw.3	+	6	620	c.449C>T	c.(448-450)aCg>aTg	p.T150M	CD53_uc001dzx.3_Missense_Mutation_p.T150M|CD53_uc010owa.2_Intron	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	150					signal transduction	integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		ATAAATGGCACGAGTGATTGG	0.428													T	111439300	C	T	111439300	3	4	73	1	0	0	0	0	1	0	0	0	3053	536	19	1	467	1	CD53	1	111439300	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	76211964	111439300	137811321	5	4743											
SPAG17	200162	broad.mit.edu	37	chr1	118558655	118558655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtctgctattctttctaatCctttggtgccgatccgattt	6	18	7	10	2	3	0	0	0	3	0	5	2	5	0	3	1	2	1	3	1	2	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:118558655C>A	uc001ehk.2	-	28	4288	c.4220G>T	c.(4219-4221)gGa>gTa	p.G1407V		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1407						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCTTTCTAATCCTTTGGTGCC	0.448													A	118558655	C	A	118558655	3	1	73	1	0	0	0	0	1	0	0	0	15075	855	30	4	2531	4	SPAG17	1	118558655	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	7119355	118558655	130691966	6	4744											
FLG	2312	broad.mit.edu	37	chr1	152275641	152275641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatgactggctgtatcGcggtgagaggatccggggtg	7	10	17	7	3	0	2	0	2	0	1	2	4	1	3	1	5	1	3	1	5	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:152275641G>A	uc001ezu.1	-	2	11757	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis				A	152275641	G	A	152275641	2	1	73	1	0	0	0	0	0	0	0	1	5971	1074	38	1		1	FLG	1	152275641	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	33716986	152275641	96974980	7	4745											
MUC1	4582	broad.mit.edu	37	chr1	155161953	155161953	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggggctgtggctggagagTacgctgctggtcatactcac	6	9	15	11	2	2	1	2	0	0	1	2	2	2	1	1	5	3	5	1	5	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155161953T>C	uc021pap.1	-	1	279	c.207A>G	c.(205-207)gtA>gtG	p.V69V	MUC1_uc001fhz.3_5'Flank|MUC1_uc001fhy.3_5'Flank|MUC1_uc010pfb.2_Intron|MUC1_uc010pfh.2_Intron|MUC1_uc010pff.2_Intron|MUC1_uc010pfi.2_Intron|MUC1_uc010pfj.2_Intron|MUC1_uc010pfk.2_Intron|MUC1_uc010pfl.2_Intron|MUC1_uc010pfc.2_Intron|MUC1_uc009wph.3_Intron|MUC1_uc010pfe.2_Intron|MUC1_uc009wpi.3_Intron|MUC1_uc010pfg.2_Intron|MUC1_uc010pfd.2_Intron|MUC1_uc009wpy.3_Intron|MUC1_uc009wpu.3_Intron|MUC1_uc010pfm.2_Intron|MUC1_uc001fiq.3_Intron|MUC1_uc009wqa.3_Intron|MUC1_uc010pfn.2_Intron|MUC1_uc009wpn.3_Intron|MUC1_uc010pfo.2_Intron|MUC1_uc009wpw.3_Intron|MUC1_uc001fim.3_Intron|MUC1_uc001fil.3_Intron|MUC1_uc010pfp.2_Intron|MUC1_uc001fij.3_Intron|MUC1_uc009wqc.3_Intron|MUC1_uc009wqd.3_Intron|MUC1_uc001fia.3_Intron|MUC1_uc009wqb.3_Intron|MUC1_uc009wpx.3_Intron|MUC1_uc010pfq.2_Intron|MUC1_uc001fid.3_Intron|MUC1_uc001fit.3_Intron|MUC1_uc009wpz.3_Intron|MUC1_uc001fii.3_Intron|MUC1_uc001fik.3_Intron|MUC1_uc009wpo.3_Intron|MUC1_uc010pfr.2_Intron|MUC1_uc001fih.3_Intron|MUC1_uc001fio.3_Intron|MUC1_uc009wqe.3_Intron|MUC1_uc009wpl.3_Intron|MUC1_uc009wpp.3_Intron|MUC1_uc009wpm.3_Intron|MUC1_uc009wpk.3_Intron|MUC1_uc010pfs.2_Intron|MUC1_uc001fip.3_Intron|MUC1_uc021paq.1_Silent_p.V60V|MUC1_uc009wqg.3_Intron|MUC1_uc009wqf.3_Intron|MUC1_uc001fic.3_Intron|MUC1_uc009wps.3_Intron|MUC1_uc001fie.3_Intron|MUC1_uc009wpt.3_Intron|MUC1_uc009wpq.3_Intron|MUC1_uc009wpr.3_Intron|MUC1_uc001fig.3_Intron|MUC1_uc001fif.3_Intron|MUC1_uc001fin.3_Intron|MUC1_uc009wpj.3_Intron|MUC1_uc009wpv.3_Intron|MUC1_uc001fib.3_Intron|MUC1_uc001fis.2_Intron|MUC1_uc001fiv.2_Silent_p.V69V|MUC1_uc001fiw.2_Silent_p.V60V|DM075093_uc021par.1_5'Flank	NM_001204286	NP_001191215	P15941	MUC1_HUMAN	Homo sapiens mucin 1, cell surface associated (MUC1), transcript variant 10, mRNA.	842						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding	p.V60V(1)		breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTGGAGAGTACGCTGCTGG	0.587			T	IGH@	B-NHL								C	155161953	T	C	155161953	2	2	73	1	0	0	0	0	0	0	0	1	10046	1653	57	3		3	MUC1	1	155161953	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	2886312	155161953	94088668	8	4746											
RIT1	6016	broad.mit.edu	37	chr1	155870206	155870206	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actgaatctttcttcttccgGaatggtgattttagcctctt	7	18	7	9	1	4	2	0	2	4	0	5	3	5	3	2	2	1	0	2	2	3	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:155870206G>C	uc001fmh.1	-	5	820	c.633C>G	c.(631-633)ttC>ttG	p.F211L	RIT1_uc010pgr.1_Missense_Mutation_p.F175L	NM_006912	NP_008843	Q92963	RIT1_HUMAN	Homo sapiens Ras-like without CAAX 1 (RIT1), mRNA.	211					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|skin(1)|urinary_tract(1)	19	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;1.79e-05)			TCTTCTTCCGGAATGGTGATT	0.423													C	155870206	G	C	155870206	3	2	73	1	0	0	0	0	1	0	0	0	13477	1165	41	4	30	4	RIT1	1	155870206	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	708253	155870206	93380415	9	4747											
IQGAP3	128239	broad.mit.edu	37	chr1	156503843	156503843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacggtgatgtacaccatGggtttggccacagccaccat	9	8	10	14	1	0	1	0	1	0	0	0	1	0	1	5	3	2	2	5	3	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:156503843G>A	uc001fpf.3	-	29	3906	c.3831C>T	c.(3829-3831)ccC>ccT	p.P1277P		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1277					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.P1277H(1)		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)					TGTACACCATGGGTTTGGCCA	0.592													A	156503843	G	A	156503843	2	1	73	1	0	0	0	0	0	0	0	1	7874	1335	47	2		2	IQGAP3	1	156503843	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	633637	156503843	92746778	10	4748											
SLAMF1	6504	broad.mit.edu	37	chr1	160607074	160607074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctccttcctgctttcccGtatccccagggtgagattct	5	14	7	15	1	1	1	0	1	1	1	6	2	6	1	6	1	1	2	6	1	1	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr1:160607074G>A	uc001fwl.4	-	1	668	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	SLAMF1_uc010pjk.2_Non-coding_Transcript|SLAMF1_uc010pjl.2_Non-coding_Transcript|SLAMF1_uc010pjm.2_Non-coding_Transcript|SLAMF1_uc001fwm.3_Missense_Mutation_p.R108W	NM_003037	NP_003028	Q13291	SLAF1_HUMAN	Homo sapiens signaling lymphocytic activation molecule family member 1 (SLAMF1), mRNA.	108					interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTGCTTTCCCGTATCCCCAGG	0.468													A	160607074	G	A	160607074	3	1	73	1	0	0	0	0	1	0	0	0	14461	1144	40	1	709	1	SLAMF1	1	160607074	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	4103231	160607074	88643547	11	4749											
PIKFYVE	200576	broad.mit.edu	37	chr2	209179975	209179975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgctccatagtgactcaCtgtcatcatcttggagggac	9	12	10	10	0	4	1	3	1	1	0	5	3	5	3	1	2	1	2	1	2	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:209179975C>G	uc002vcz.3	+	14	2043	c.1885C>G	c.(1885-1887)Ctg>Gtg	p.L629V	PIKFYVE_uc010fun.1_Missense_Mutation_p.L310V|PIKFYVE_uc002vcy.1_Missense_Mutation_p.L573V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	629					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TAGTGACTCACTGTCATCATC	0.423													G	209179975	C	G	209179975	3	3	73	1	0	0	0	0	1	0	0	0	12001	564	20	4	1950	4	PIKFYVE	2	209179975	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		209179975	34019398	12	4750											
TNS1	7145	broad.mit.edu	37	chr2	218749762	218749762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaaggagcgcacctttGaaagcatcatcaaggtcctc	12	8	8	13	1	3	1	3	1	0	0	5	2	4	2	2	2	2	2	2	2	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:218749762G>T	uc002vgt.2	-	13	1265	c.867C>A	c.(865-867)ttC>ttA	p.F289L	TNS1_uc002vgr.2_Missense_Mutation_p.F289L|TNS1_uc002vgs.2_Missense_Mutation_p.F289L|TNS1_uc010zjv.1_Missense_Mutation_p.F289L|TNS1_uc010fvj.1_Missense_Mutation_p.F357L|TNS1_uc010fvk.1_Missense_Mutation_p.F414L|TNS1_uc002vgu.3_Missense_Mutation_p.F320L|TNS1_uc010fvi.1_5'UTR	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	289	C2 tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCGCACCTTTGAAAGCATCAT	0.572													T	218749762	G	T	218749762	3	4	73	1	0	0	0	0	1	0	0	0	16443	1281	45	4	4420	4	TNS1	2	218749762	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	9569787	218749762	24449611	13	4751											
ITM2C	81618	broad.mit.edu	37	chr2	231740464	231740464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactacgagcgcatcaacGtgcctgtgccccagtttggc	9	8	11	13	3	1	1	1	0	0	1	1	2	1	1	3	1	6	2	3	1	3	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:231740464G>A	uc002vqz.3	+	2	511	c.391G>A	c.(391-393)Gtg>Atg	p.V131M	ITM2C_uc002vra.3_Missense_Mutation_p.V84M|ITM2C_uc002vrb.3_Missense_Mutation_p.V131M|ITM2C_uc002vrc.3_Missense_Mutation_p.V20M|ITM2C_uc002vrd.3_Missense_Mutation_p.V20M	NM_030926	NP_112188	Q9NQX7	ITM2C_HUMAN	Homo sapiens integral membrane protein 2C (ITM2C), transcript variant 1, mRNA.	131					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GCGCATCAACGTGCCTGTGCC	0.617													A	231740464	G	A	231740464	3	1	73	1	0	0	0	0	1	0	0	0	7972	1145	40	1	401	1	ITM2C	2	231740464	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	12990702	231740464	11458909	14	4752											
COL6A3	1293	broad.mit.edu	37	chr2	238275697	238275697	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcgtgtcttccccctttGtagaccactttgttgatggc	4	16	10	11	1	1	2	0	1	1	1	2	2	2	2	3	2	0	2	3	2	1	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr2:238275697G>C	uc002vwl.2	-	10	5418	c.5133C>G	c.(5131-5133)taC>taG	p.Y1711*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.Y1505*|COL6A3_uc010znj.1_Nonsense_Mutation_p.Y1104*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1711	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCCCCCTTTGTAGACCACTT	0.557													C	238275697	G	C	238275697	4	2	73	1	0	0	0	0	0	1	0	0	3732	1372	48	4	4536	4	COL6A3	2	238275697	Nonsense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	6535233	238275697	4923676	15	4753											
ATP2B2	491	broad.mit.edu	37	chr3	10387071	10387071	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcctgcggacccacctgCgtgatgcaggcgcctgtgaa	6	8	13	14	3	1	2	0	2	1	0	2	3	1	3	4	2	3	1	4	2	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:10387071C>T	uc003bvt.3	-	17	3139	c.2700G>A	c.(2698-2700)acG>acA	p.T900T	ATP2B2_uc003bvv.3_Silent_p.T855T|ATP2B2_uc003bvw.3_Silent_p.T855T|ATP2B2_uc010hdo.3_Silent_p.T605T	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	900					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GACCCACCTGCGTGATGCAGG	0.627													T	10387071	C	T	10387071	2	4	73	1	0	0	0	0	0	0	0	1	1145	755	27	1		1	ATP2B2	3	10387071	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		10387071	187635359	16	4754											
KIAA1257	57501	broad.mit.edu	37	chr3	128696988	128696988	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtattctcaatgccctgTtcagataattttctctgatt	8	19	6	8	0	3	2	2	1	2	1	5	2	3	2	1	1	1	2	1	1	3	8			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:128696988T>C	uc003elj.4	-	4	904	c.708A>G	c.(706-708)gaA>gaG	p.E236E	KIAA1257_uc003elg.1_Silent_p.E236E|KIAA1257_uc003eli.4_Silent_p.E124E	NM_020741	NP_065792	Q9ULG3	K1257_HUMAN	Homo sapiens KIAA1257 (KIAA1257), mRNA.	236										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CAATGCCCTGTTCAGATAATT	0.358													C	128696988	T	C	128696988	2	2	73	1	0	0	0	0	0	0	0	1	8276	1722	60	3		3	KIAA1257	3	128696988	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	118309917	128696988	69325442	17	4755											
CLDN18	51208	broad.mit.edu	37	chr3	137717743	137717743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctgtcagggcttggggttCgtggtttcactgattgggat	4	14	16	7	1	2	1	2	1	0	0	3	2	2	2	1	5	0	3	1	5	0	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:137717743C>T	uc003ero.1	+	0	86	c.33C>T	c.(31-33)ttC>ttT	p.F11F		NM_001002026	NP_001002026	P56856	CLD18_HUMAN	Homo sapiens claudin 18 (CLDN18), transcript variant 2, mRNA.	11					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	6						GCTTGGGGTTCGTGGTTTCAC	0.557													T	137717743	C	T	137717743	2	4	73	1	0	0	0	0	0	0	0	1	3510	883	31	1		1	CLDN18	3	137717743	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	9020755	137717743	60304687	18	4756											
PLCH1	23007	broad.mit.edu	37	chr3	155203313	155203313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtggcctcggacacagaatCctttatctccaccatttctt	8	14	6	13	1	2	1	0	0	2	1	5	2	3	2	4	2	0	0	4	2	2	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:155203313C>T	uc021xge.1	-	21	3107	c.2830G>A	c.(2830-2832)Gat>Aat	p.D944N	PLCH1_uc021xgd.1_Missense_Mutation_p.D944N|PLCH1_uc021xgf.1_Missense_Mutation_p.D906N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	944					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.S944*(1)		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)			GACACAGAATCCTTTATCTCC	0.522													T	155203313	C	T	155203313	3	4	73	1	0	0	0	0	1	0	0	0	12114	855	30	2	2274	2	PLCH1	3	155203313	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	17485570	155203313	42819117	19	4757											
PEX5L	51555	broad.mit.edu	37	chr3	179526143	179526143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaacagaacccctagacCtgtctgcaggtctgggtcga	9	8	13	11	1	2	2	0	0	2	2	3	4	2	3	3	3	3	1	3	3	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:179526143C>T	uc003fki.1	-	12	1565	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	PEX5L_uc011bqd.1_Missense_Mutation_p.G436S|PEX5L_uc011bqe.1_Missense_Mutation_p.G287S|PEX5L_uc011bqf.1_Missense_Mutation_p.G371S|PEX5L_uc003fkj.1_Missense_Mutation_p.G444S|PEX5L_uc010hxd.1_Missense_Mutation_p.G477S|PEX5L_uc011bqg.1_Missense_Mutation_p.G455S|PEX5L_uc011bqh.1_Missense_Mutation_p.G420S	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	479					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			ACCCCTAGACCTGTCTGCAGG	0.458													T	179526143	C	T	179526143	3	4	73	1	0	0	0	0	1	0	0	0	11826	681	24	2	457	2	PEX5L	3	179526143	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	24322830	179526143	18496287	20	4758											
HTR3E	285242	broad.mit.edu	37	chr3	183823993	183823993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcacccacctgctgcacGtggccaccacccagccccca	8	5	6	22	1	2	0	2	0	0	0	2	0	2	0	7	1	3	2	7	1	0	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr3:183823993G>A	uc010hxr.3	+	5	1275	c.1081G>A	c.(1081-1083)Gtg>Atg	p.V361M	HTR3E_uc010hxq.3_Missense_Mutation_p.V335M|HTR3E_uc003fml.4_Missense_Mutation_p.V320M|HTR3E_uc003fmm.3_Missense_Mutation_p.V350M|HTR3E_uc003fmn.3_Missense_Mutation_p.V335M	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	335						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CCTGCTGCACGTGGCCACCAC	0.667													A	183823993	G	A	183823993	3	1	73	1	0	0	0	0	1	0	0	0	7506	1145	40	1	1074	1	HTR3E	3	183823993	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	4297850	183823993	14198437	21	4759											
UNC5C	8633	broad.mit.edu	37	chr4	96199412	96199412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaattgttgttattcacctCagccactgggatcccttcag	9	13	8	11	0	3	1	3	0	0	1	4	2	4	2	3	1	1	2	3	1	2	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:96199412C>T	uc003hto.3	-	3	945	c.592G>A	c.(592-594)Gag>Aag	p.E198K	UNC5C_uc010ilc.2_Missense_Mutation_p.E198K|UNC5C_uc003htq.3_Missense_Mutation_p.E198K	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	198	Ig-like C2-type.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.A197D(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTATTCACCTCAGCCACTGGG	0.453													T	96199412	C	T	96199412	3	4	73	1	0	0	0	0	1	0	0	0	17095	835	29	2	2255	2	UNC5C	4	96199412	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		96199412	94954864	22	4760											
ANK2	287	broad.mit.edu	37	chr4	114277204	114277204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagccctgttgaaccaaAgatgaaggctggaatttttc	13	10	10	8	0	0	3	0	2	0	1	1	4	0	4	2	2	3	3	2	2	5	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:114277204A>T	uc003ibe.4	+	37	7530	c.7430A>T	c.(7429-7431)aAg>aTg	p.K2477M	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.K2492M	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2444					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTTGAACCAAAGATGAAGGCT	0.502													T	114277204	A	T	114277204	3	4	73	1	0	0	0	0	1	0	0	0	621	72	3	5	7645	5	ANK2	4	114277204	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	18077792	114277204	76877072	23	4761											
IL2	3558	broad.mit.edu	37	chr4	123374886	123374886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttagttccagaactattacGttgatattgctgattaagtc	11	17	7	6	1	0	3	0	2	0	1	2	3	1	3	1	0	3	3	1	0	6	9			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:123374886G>A	uc003ier.3	-	2	385	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_000586	NP_000577	P60568	IL2_HUMAN	Homo sapiens interleukin 2 (IL2), mRNA.	110					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		GAACTATTACGTTGATATTGC	0.353			T	TNFRSF17	intestinal T-cell lymphoma								A	123374886	G	A	123374886	2	1	73	1	0	0	0	0	0	0	0	1	7724	1136	40	1		1	IL2	4	123374886	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	9097682	123374886	67779390	24	4762											
RBM46	166863	broad.mit.edu	37	chr4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttaataattatgaaattCgaccagggaagtttattggt	13	16	8	4	1	1	1	0	1	1	0	2	3	1	2	1	2	0	1	1	2	6	8			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:155719190C>T	uc003ioo.3	+	2	552	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_uc011cim.1_Nonsense_Mutation_p.R127*|RBM46_uc003iop.1_Nonsense_Mutation_p.R127*	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	127	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338													T	155719190	C	T	155719190	4	4	73	1	0	0	0	0	0	1	0	0	13228	876	31	1	385	1	RBM46	4	155719190	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	32344304	155719190	35435086	25	4763											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632019	156632019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacggaagtggaagtgtcGttaatgcctccctgcttcca	10	10	11	10	2	0	0	0	0	0	0	3	3	2	2	3	2	3	2	3	2	4	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr4:156632019G>A	uc003iov.3	+	6	1238	c.702G>A	c.(700-702)tcG>tcA	p.S234S	GUCY1A3_uc003iou.2_Silent_p.S234S|GUCY1A3_uc010iqc.2_Silent_p.S234S|GUCY1A3_uc010iqd.3_Silent_p.S233S|GUCY1A3_uc003iow.3_Silent_p.S234S|GUCY1A3_uc003iox.3_Silent_p.S234S|GUCY1A3_uc010iqe.3_5'UTR|GUCY1A3_uc003ioy.3_Silent_p.S234S|GUCY1A3_uc003ioz.3_5'UTR|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Silent_p.S234S	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	234					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGGAAGTGTCGTTAATGCCTC	0.468													A	156632019	G	A	156632019	2	1	73	1	0	0	0	0	0	0	0	1	6949	1132	40	1		1	GUCY1A3	4	156632019	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	912829	156632019	34522257	26	4764											
KIAA0947	23379	broad.mit.edu	37	chr5	5464633	5464633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgcacttcctgtgcctgGccgactcccaccctgtgcat	5	9	9	18	2	0	0	0	0	0	0	2	1	2	0	5	1	2	3	5	1	0	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:5464633G>T	uc003jdm.4	+	12	5408	c.5186G>T	c.(5185-5187)gGc>gTc	p.G1729V		NM_015325	NP_056140	Q9Y2F5	K0947_HUMAN	Homo sapiens KIAA0947 (KIAA0947), mRNA.	1729	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						CCTGTGCCTGGCCGACTCCCA	0.587													T	5464633	G	T	5464633	3	4	73	1	0	0	0	0	1	0	0	0	8260	1203	42	4	5236	4	KIAA0947	5	5464633	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		5464633	175450627	27	4765											
CDH9	1007	broad.mit.edu	37	chr5	26885950	26885950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgactgtagccatctttcCgagtcatgattcctgctgta	7	14	9	11	2	2	1	1	1	1	0	4	3	4	1	3	0	3	3	3	0	2	4	rs150128137		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:26885950C>T	uc003jgs.1	-	10	1824	c.1655G>A	c.(1654-1656)cGg>cAg	p.R552Q	CDH9_uc011cnv.1_Missense_Mutation_p.R145Q	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	552	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R552Q(2)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCATCTTTCCGAGTCATGAT	0.343													T	26885950	C	T	26885950	3	4	73	1	0	0	0	0	1	0	0	0	3147	652	23	1	722	1	CDH9	5	26885950	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	21421317	26885950	154029310	28	4766											
PCDHAC2	56137	broad.mit.edu	37	chr5	140256671	140256671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccaggtgagcgcgcgCgacgccggcgtgccgcctct	4	6	15	16	8	1	1	0	1	1	0	2	2	2	1	4	2	2	1	4	2	0	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:140256671C>T	uc003lic.2	+	0	1741	c.1614C>T	c.(1612-1614)cgC>cgT	p.R538R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.R538R	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	552	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCGCGCGCGACGCCGGCG	0.692													T	140256671	C	T	140256671	2	4	73	1	0	0	0	0	0	0	0	1	11609	755	27	1		1	PCDHAC2	5	140256671	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	113370721	140256671	40658589	29	4767											
PPP2R2B	5521	broad.mit.edu	37	chr5	146030195	146030195	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatagtcgctgttgacAgatatggagttgatgtgata	10	15	12	4	1	1	4	1	3	0	1	2	5	1	5	0	1	0	4	0	1	3	6	rs146742970	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:146030195A>T	uc011dbv.2	-	6	977	c.714T>A	c.(712-714)tcT>tcA	p.S238S	PPP2R2B_uc010jgm.3_Silent_p.S169S|PPP2R2B_uc003loe.3_Silent_p.S180S|PPP2R2B_uc003log.4_Silent_p.S180S|PPP2R2B_uc003lof.4_Silent_p.S180S|PPP2R2B_uc003loi.4_Silent_p.S183S|PPP2R2B_uc003loh.4_Silent_p.S180S|PPP2R2B_uc003lok.4_Silent_p.S169S|PPP2R2B_uc003loj.4_Silent_p.S160S|PPP2R2B_uc011dbu.2_Silent_p.S186S	NM_181675	NP_858061	Q00005	2ABB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B, beta (PPP2R2B), transcript variant 3, mRNA.	180					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGCTGTTGACAGATATGGAGT	0.458													T	146030195	A	T	146030195	2	4	73	1	0	0	0	0	0	0	0	1	12467	175	7	5		5	PPP2R2B	5	146030195	Silent	SNP	A	TCGA-06-1804-01A-01D-1696-08	5773524	146030195	34885065	30	4768											
FAM71B	153745	broad.mit.edu	37	chr5	156589483	156589483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatttggtttcaaagacgAtcatctccgtcttctcggat	8	15	9	9	3	5	1	2	0	3	1	7	4	5	3	1	3	0	1	1	3	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr5:156589483A>G	uc003lwn.3	-	1	1893	c.1793T>C	c.(1792-1794)aTc>aCc	p.I598T		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	598						nucleus		p.I598I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCAAAGACGATCATCTCCGT	0.517													G	156589483	A	G	156589483	3	3	73	1	0	0	0	0	1	0	0	0	5658	333	12	3	28	3	FAM71B	5	156589483	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	10559288	156589483	24325777	31	4769											
ABCC10	89845	broad.mit.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	8	10	10	13	2	0	0	0	0	0	0	4	3	3	2	5	3	1	1	5	3	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													T	43403588	C	T	43403588	3	4	73	1	0	0	0	0	1	0	0	0	50	643	23	1	1589	1	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		43403588	127711479	32	4770											
PKHD1	5314	broad.mit.edu	37	chr6	51523897	51523897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgataaggatgaaatcattCcagtgctccttactgttggc	10	14	9	8	0	1	2	1	2	0	0	3	3	3	3	2	2	2	2	2	2	3	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:51523897C>T	uc003pah.1	-	60	11303	c.11027G>A	c.(11026-11028)gGa>gAa	p.G3676E		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3676					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAAATCATTCCAGTGCTCCT	0.403													T	51523897	C	T	51523897	3	4	73	1	0	0	0	0	1	0	0	0	12048	855	30	2	1225	2	PKHD1	6	51523897	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	8120309	51523897	119591170	33	4771											
ZNF292	23036	broad.mit.edu	37	chr6	87865454	87865454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgtggaagcggccaccGactactgtcagcagctgtgc	7	6	14	14	4	1	0	1	0	0	0	1	2	1	1	3	3	5	2	3	3	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:87865454G>T	uc003plm.4	+	0	186	c.145G>T	c.(145-147)Gac>Tac	p.D49Y	ZNF292_uc003plk.3_Non-coding_Transcript|ZNF292_uc003pll.1_Missense_Mutation_p.D49Y	NM_015021	NP_055836	O60281	ZN292_HUMAN	Homo sapiens zinc finger protein 292 (ZNF292), mRNA.	49					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGCGGCCACCGACTACTGTCA	0.726													T	87865454	G	T	87865454	3	4	73	1	0	0	0	0	1	0	0	0	17927	1058	37	4	147	4	ZNF292	6	87865454	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	36341557	87865454	83249613	34	4772											
GPR6	2830	broad.mit.edu	37	chr6	110300407	110300407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagcagcaggggggcCggacacgggcgaatggggac	9	1	20	11	3	0	0	0	0	0	0	0	3	0	2	2	8	2	2	2	8	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr6:110300407C>T	uc011eav.2	+	2	381	c.137C>T	c.(136-138)cCg>cTg	p.P46L	GPR6_uc011eaw.2_Missense_Mutation_p.P31L|GPR6_uc003ptu.3_Missense_Mutation_p.P31L|GPR6_uc021zds.1_Missense_Mutation_p.P31L	NM_005284	NP_005275	P46095	GPR6_HUMAN	Homo sapiens G protein-coupled receptor 6 (GPR6), mRNA.	31						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		gcaggggggccggACACGGGC	0.736													T	110300407	C	T	110300407	3	4	73	1	0	0	0	0	1	0	0	0	6755	652	23	1	94	1	GPR6	6	110300407	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	22434953	110300407	60814660	35	4773											
EGFR	1956	broad.mit.edu	37	chr7	55221722	55221722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgccgcaaattccgaGacgaagccacgtgcaaggac	12	5	12	12	4	1	1	0	0	1	1	2	4	2	2	3	2	3	2	3	2	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:55221722G>T	uc003tqk.3	+	6	1012	c.766G>T	c.(766-768)Gac>Tac	p.D256Y	EGFR_uc003tqh.3_Missense_Mutation_p.D256Y|EGFR_uc003tqi.3_Missense_Mutation_p.D256Y|EGFR_uc003tqj.3_Missense_Mutation_p.D256Y|EGFR_uc022adm.1_Missense_Mutation_p.D256Y|EGFR_uc010kzg.2_Missense_Mutation_p.D211Y|EGFR_uc022adn.1_Missense_Mutation_p.D211Y|EGFR_uc011kco.2_Missense_Mutation_p.D203Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	256					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAATTCCGAGACGAAGCCAC	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221722	G	T	55221722	3	4	73	1	0	0	0	0	1	0	0	0	5006	942	33	4	792	4	EGFR	7	55221722	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		55221722	103916941	36	4774											
MYL10	93408	broad.mit.edu	37	chr7	101256837	101256837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacatctgggggaaatgctGcaaacatctgcttgacctga	12	9	10	10	0	2	2	0	2	2	0	2	3	2	3	1	2	4	3	1	2	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:101256837G>A	uc003uyr.3	-	7	777	c.599C>T	c.(598-600)gCa>gTa	p.A200V		NM_138403	NP_612412	Q9BUA6	MYL10_HUMAN	Homo sapiens myosin, light chain 10, regulatory (MYL10), mRNA.	200	EF-hand 3.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GGGAAATGCTGCAAACATCTG	0.562													A	101256837	G	A	101256837	3	1	73	1	0	0	0	0	1	0	0	0	10120	1319	46	2	85	2	MYL10	7	101256837	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	46035115	101256837	57881826	37	4775											
PTPRZ1	5803	broad.mit.edu	37	chr7	121653409	121653409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacagaggtagtgatggcTtatccattcataagtgtatg	12	13	11	5	0	1	3	1	2	0	1	2	3	2	3	1	2	0	3	1	2	4	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:121653409T>A	uc003vjy.3	+	11	4704	c.4309T>A	c.(4309-4311)Tta>Ata	p.L1437I	PTPRZ1_uc011knt.2_Intron|PTPRZ1_uc003vjz.3_Intron	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	1437					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTGATGGCTTATCCATTCA	0.418													A	121653409	T	A	121653409	3	1	73	1	0	0	0	0	1	0	0	0	12902	1606	56	5	4355	5	PTPRZ1	7	121653409	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	20396572	121653409	37485254	38	4776											
UBE3C	9690	broad.mit.edu	37	chr7	157046771	157046771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcactgcctggctttcCgccagggccttgccaatgtc	5	9	11	16	1	0	0	0	0	0	0	2	0	1	0	6	2	3	2	6	2	1	2	rs142140245		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr7:157046771C>T	uc010lqs.3	+	19	3130	c.2818C>T	c.(2818-2820)Cgc>Tgc	p.R940C	UBE3C_uc003wni.4_Missense_Mutation_p.R303C	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	940	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTGGCTTTCCGCCAGGGCCT	0.562													T	157046771	C	T	157046771	3	4	73	1	0	0	0	0	1	0	0	0	16983	652	23	1	2896	1	UBE3C	7	157046771	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	35393362	157046771	2091892	39	4777											
ADAM28	10863	broad.mit.edu	37	chr8	24200682	24200682	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaattgctcatctaagtgCaaaggacatgctgtaagttc	13	11	8	9	0	2	0	1	0	1	0	3	1	2	1	1	1	3	5	1	1	4	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:24200682C>A	uc003xdy.3	+	16	1982	c.1899C>A	c.(1897-1899)tgC>tgA	p.C633*	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Nonsense_Mutation_p.C320*	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	633	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CATCTAAGTGCAAAGGACATG	0.358													A	24200682	C	A	24200682	4	1	73	1	0	0	0	0	0	1	0	0	246	718	25	4	2021	4	ADAM28	8	24200682	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		24200682	122163340	40	4778											
DOCK5	80005	broad.mit.edu	37	chr8	25203034	25203034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgacagaccagctcagCggccagttagatgacaactc	11	7	10	13	1	1	4	1	2	0	2	2	4	1	4	2	1	4	3	2	1	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:25203034C>T	uc003xeg.3	+	25	2798	c.2661C>T	c.(2659-2661)agC>agT	p.S887S	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.S601S|DOCK5_uc003xei.3_Silent_p.S457S|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	887						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACCAGCTCAGCGGCCAGTTAG	0.557													T	25203034	C	T	25203034	2	4	73	1	0	0	0	0	0	0	0	1	4729	767	27	1		1	DOCK5	8	25203034	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	1002352	25203034	121160988	41	4779											
TGS1	96764	broad.mit.edu	37	chr8	56699365	56699365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacctattatggttgAtaatgatagctctggtacaa	12	15	7	7	0	3	2	1	2	2	0	3	2	3	2	1	2	2	3	1	2	6	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:56699365A>G	uc003xsj.4	+	3	1295	c.908A>G	c.(907-909)gAt>gGt	p.D303G	TGS1_uc010lyh.3_Missense_Mutation_p.D207G	NM_024831	NP_079107	Q96RS0	TGS1_HUMAN	Homo sapiens trimethylguanosine synthase 1 (TGS1), mRNA.	303					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			ATTATGGTTGATAATGATAGC	0.333													G	56699365	A	G	56699365	3	3	73	1	0	0	0	0	1	0	0	0	15937	333	12	3	922	3	TGS1	8	56699365	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	31496331	56699365	89664657	42	4780											
SYBU	55638	broad.mit.edu	37	chr8	110588241	110588241	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctccacgatttcactttCcctagagtgccaagacaagc	12	9	7	13	1	1	2	1	0	0	2	3	3	3	2	3	0	3	1	3	0	4	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr8:110588241C>A	uc010mcp.3	-	8	1247	c.885_splice	c.e8-1	p.R295_splice	SYBU_uc003yni.4_Splice_Site_p.R292_splice|SYBU_uc003ynk.4_Splice_Site_p.R176_splice|SYBU_uc003ynj.4_Splice_Site_p.R295_splice|SYBU_uc010mco.3_Splice_Site_p.R294_splice|SYBU_uc003ynl.4_Splice_Site_p.R294_splice|SYBU_uc010mcq.3_Splice_Site_p.R295_splice|SYBU_uc003yno.4_Splice_Site_p.R176_splice|SYBU_uc010mcr.3_Splice_Site_p.R295_splice|SYBU_uc003ynm.4_Splice_Site_p.R294_splice|SYBU_uc003ynn.4_Splice_Site_p.R294_splice|SYBU_uc010mcs.3_Splice_Site_p.R176_splice|SYBU_uc010mct.3_Splice_Site_p.R295_splice|SYBU_uc010mcu.3_Splice_Site_p.R294_splice|SYBU_uc003ynp.4_Splice_Site_p.R227_splice|SYBU_uc010mcv.3_Splice_Site_p.R295_splice|SYBU_uc003ynh.4_Splice_Site_p.R89_splice|SYBU_uc011lhw.2_Splice_Site_p.R165_splice	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	295	Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						ATTTCACTTTCCCTAGAGTGC	0.463													A	110588241	C	A	110588241	4	1	73	1	0	0	0	0	0	1	0	0	15523	869	30	4	1109	4	SYBU	8	110588241	Nonsense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	53888876	110588241	35775781	43	4781											
RFX3	5991	broad.mit.edu	37	chr9	3225104	3225104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtctgagtacttgtgaCaatgtgctcgctgtgaattg	9	14	12	6	1	1	3	0	3	1	0	2	4	1	3	0	0	2	3	0	0	4	4	rs137899630	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:3225104C>T	uc003zhr.3	-	17	2500	c.2188G>A	c.(2188-2190)Gtc>Atc	p.V730I	RFX3_uc010mhd.3_Missense_Mutation_p.V730I	NM_134428	NP_602304	P48380	RFX3_HUMAN	Homo sapiens regulatory factor X, 3 (influences HLA class II expression) (RFX3), transcript variant 2, mRNA.	730					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		GTACTTGTGACAATGTGCTCG	0.478													T	3225104	C	T	3225104	3	4	73	1	0	0	0	0	1	0	0	0	13352	478	17	2	65	2	RFX3	9	3225104	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		3225104	137988327	44	4782											
CACNA1B	774	broad.mit.edu	37	chr9	140904511	140904511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtggacaacctggccaaCgcccaagagctgaccaaggt	11	5	12	13	1	0	2	0	1	0	1	0	3	0	3	4	3	3	2	4	3	4	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr9:140904511C>T	uc004cog.3	+	16	2287	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	CACNA1B_uc022bqn.1_Silent_p.N714N|CACNA1B_uc011mfd.2_Silent_p.N316N	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	714					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	ACCTGGCCAACGCCCAAGAGC	0.607													T	140904511	C	T	140904511	2	4	73	1	0	0	0	0	0	0	0	1	2565	535	19	1		1	CACNA1B	9	140904511	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	137679407	140904511	308920	45	4783											
MYO3A	53904	broad.mit.edu	37	chr10	26305807	26305807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacatccgtaggaacaccGttttggatggctcctgaggt	10	10	11	10	2	0	1	0	1	0	0	2	3	2	3	3	4	2	3	3	4	3	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:26305807G>A	uc001isn.2	+	6	927	c.567G>A	c.(565-567)ccG>ccA	p.P189P	MYO3A_uc009xko.1_Silent_p.P189P|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.P189P|MYO3A_uc001ism.2_Silent_p.P189P	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	189	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TAGGAACACCGTTTTGGATGG	0.448													A	26305807	G	A	26305807	2	1	73	1	0	0	0	0	0	0	0	1	10152	1132	40	1		1	MYO3A	10	26305807	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		26305807	109228940	46	4784											
PTEN	5728	broad.mit.edu	37	chr10	89653833	89653833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgcagaaagacttgaagGcgtatacaggaacaatattg	15	9	10	7	1	0	3	0	1	0	2	1	4	1	4	1	2	3	2	1	2	7	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr10:89653833G>A	uc001kfb.3	+	1	1163	c.131G>A	c.(130-132)gGc>gAc	p.G44D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	44	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.G44D(4)|p.G44G(3)|p.Y27fs*1(2)|p.G44fs*8(2)|p.G44fs*11(2)|p.Y27_N212>Y(2)|p.E43*(1)|p.E43fs*11(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGAAGGCGTATACAGG	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89653833	G	A	89653833	3	1	73	1	0	0	0	0	1	0	0	0	12823	1203	42	2	137	2	PTEN	10	89653833	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	63348026	89653833	45880914	47	4785											
NLRP6	171389	broad.mit.edu	37	chr11	285212	285212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcactacaggagcttcagGctgtgaagagagcaaagccg	13	6	13	9	1	2	2	2	1	0	1	2	4	2	3	1	2	4	3	1	2	3	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:285212G>T	uc010qvs.2	+	7	2587	c.2587G>T	c.(2587-2589)Gct>Tct	p.A863S	NLRP6_uc010qvt.2_Missense_Mutation_p.A862S	NM_138329	NP_612202	P59044	NALP6_HUMAN	Homo sapiens NLR family, pyrin domain containing 6 (NLRP6), mRNA.	863						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		GGAGCTTCAGGCTGTGAAGAG	0.617													T	285212	G	T	285212	3	4	73	1	0	0	0	0	1	0	0	0	10557	1203	42	4	2617	4	NLRP6	11	285212	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		285212	134721304	48	4786											
OR51A2	401667	broad.mit.edu	37	chr11	4976634	4976634	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagaatccatgaatgaagaAttcctgggcaaagcaggcac	15	7	11	8	0	0	4	0	3	0	2	2	5	2	4	2	2	1	3	2	2	5	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:4976634A>T	uc010qyt.2	-	0	310	c.310T>A	c.(310-312)Ttc>Atc	p.F104I		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGAATGAAGAATTCCTGGGCA	0.448													T	4976634	A	T	4976634	3	4	73	1	0	0	0	0	1	0	0	0	11162	101	4	5	633	5	OR51A2	11	4976634	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	4691422	4976634	130029882	49	4787											
OR52E2	119678	broad.mit.edu	37	chr11	5080295	5080295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctggcacaagatagaTgagcaagacccatgtgctca	13	8	11	9	0	1	5	1	2	0	3	1	5	1	5	1	1	3	4	1	1	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:5080295T>C	uc010qyw.2	-	0	563	c.563A>G	c.(562-564)cAt>cGt	p.H188R		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ACAAGATAGATGAGCAAGACC	0.388													C	5080295	T	C	5080295	3	2	73	1	0	0	0	0	1	0	0	0	11191	1464	51	3	417	3	OR52E2	11	5080295	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	103661	5080295	129926221	50	4788											
PAX6	5080	broad.mit.edu	37	chr11	31824337	31824337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggagtccggcagtggcCgcccgttgacaaagacacca	9	5	15	12	3	0	2	0	1	0	1	1	3	1	3	4	4	0	2	4	4	1	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:31824337C>A	uc009yjr.3	-	4	525	c.56G>T	c.(55-57)cGg>cTg	p.R19L	PAX6_uc001mtd.4_Missense_Mutation_p.R19L|PAX6_uc001mte.4_Missense_Mutation_p.R19L|PAX6_uc001mtg.4_Missense_Mutation_p.R19L|PAX6_uc001mtf.4_Missense_Mutation_p.R19L|PAX6_uc001mth.4_Missense_Mutation_p.R19L|PAX6_uc021qfl.1_Missense_Mutation_p.R19L|PAX6_uc021qfm.1_Missense_Mutation_p.R19L|PAX6_uc021qfn.1_Missense_Mutation_p.R19L	NM_001127612	NP_001121084	P26367	PAX6_HUMAN	Homo sapiens paired box 6 (PAX6), transcript variant 3, mRNA.	19	Paired.		R -> P (in AN).		blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CGGCAGTGGCCGCCCGTTGAC	0.592									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				A	31824337	C	A	31824337	3	1	73	1	0	0	0	0	1	0	0	0	11559	652	23	4	1294	4	PAX6	11	31824337	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	26744042	31824337	103182179	51	4789											
OR4D6	219983	broad.mit.edu	37	chr11	59224437	59224437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagagtcatccccatcatgGaccagatcaaccacactaat	15	7	6	13	0	3	2	3	0	0	2	4	4	4	3	4	1	1	0	4	1	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:59224437G>T	uc010rku.2	+	0	4	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCCCATCATGGACCAGATCAA	0.423													T	59224437	G	T	59224437	3	4	73	1	0	0	0	0	1	0	0	0	11134	1174	41	4	6	4	OR4D6	11	59224437	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	27400100	59224437	75782079	52	4790											
MS4A8B	83661	broad.mit.edu	37	chr11	60470943	60470943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtctatttcattctaCggaggctttcccttctgggg	5	16	9	11	1	4	0	1	0	3	0	5	1	5	1	2	4	2	1	2	4	3	7	rs144254483		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60470943C>T	uc001npv.3	+	2	515	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MS4A8B_uc009yne.1_Silent_p.Y104Y	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	104						integral to membrane	receptor activity	p.Y104*(2)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TTTCATTCTACGGAGGCTTTC	0.567													T	60470943	C	T	60470943	2	4	73	1	0	0	0	0	0	0	0	1	9943	547	19	1		1	MS4A8B	11	60470943	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	1246506	60470943	74535573	53	4791											
CD6	923	broad.mit.edu	37	chr11	60739382	60739382	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgctgacggcagccctCtcaggtaggcccccttccct	5	9	11	16	1	1	1	1	1	1	0	3	2	2	2	4	4	2	3	4	4	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:60739382C>A	uc001nqq.3	+	0	270	c.45C>A	c.(43-45)ctC>ctA	p.L15L	CD6_uc009yni.3_Silent_p.L15L|CD6_uc009ynj.3_Silent_p.L15L|CD6_uc001nqp.3_Silent_p.L15L|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.L15L|CD6_uc001nqt.3_Silent_p.L15L	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	15					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CGGCAGCCCTCTCAGGTAGGC	0.602													A	60739382	C	A	60739382	2	1	73	1	0	0	0	0	0	0	0	1	3058	900	32	4		4	CD6	11	60739382	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	268439	60739382	74267134	54	4792											
DDB1	1642	broad.mit.edu	37	chr11	61079499	61079499	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaactgtgcgaatgtgcagCttctggatctcatcgatggt	8	12	13	8	2	2	0	1	0	2	0	4	4	2	2	0	3	4	2	0	3	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:61079499C>G	uc001nrc.4	-	16	2353	c.2127G>C	c.(2125-2127)aaG>aaC	p.K709N	DDB1_uc010rle.1_Intron|DDB1_uc010rlf.1_Missense_Mutation_p.K709N	NM_001923	NP_001914	Q16531	DDB1_HUMAN	Homo sapiens damage-specific DNA binding protein 1, 127kDa (DDB1), mRNA.	709	Interaction with CDT1.|Interaction with CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATGTGCAGCTTCTGGATCT	0.547								Nucleotide excision repair (NER)					G	61079499	C	G	61079499	3	3	73	1	0	0	0	0	1	0	0	0	4357	796	28	4	1339	4	DDB1	11	61079499	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	340117	61079499	73927017	55	4793											
NPAS4	266743	broad.mit.edu	37	chr11	66190325	66190325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaccccgcccaggtcctgGccctggccctggccctgcct	3	6	12	20	1	0	1	0	0	0	1	1	2	1	1	8	4	1	0	8	4	0	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:66190325G>A	uc001ohx.1	+	3	787	c.611G>A	c.(610-612)gGc>gAc	p.G204D	NPAS4_uc010rpc.1_Missense_Mutation_p.A31T	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	204	PAS 2.				transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CCAGGTCCTGGCCCTGGCCCT	0.632													A	66190325	G	A	66190325	3	1	73	1	0	0	0	0	1	0	0	0	10641	1203	42	2	625	2	NPAS4	11	66190325	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	5110826	66190325	68816191	56	4794											
ODZ4	26011	broad.mit.edu	37	chr11	78380034	78380034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatggggttgttgtttttGaacatatagagattaaaagg	12	15	12	2	0	0	3	0	2	0	1	0	4	0	3	0	3	1	3	0	3	5	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:78380034G>C	uc001ozl.4	-	31	7819	c.7356C>G	c.(7354-7356)ttC>ttG	p.F2452L	ODZ4_uc001ozk.4_Missense_Mutation_p.F677L	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2452					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TGTTGTTTTTGAACATATAGA	0.507													C	78380034	G	C	78380034	3	2	73	1	0	0	0	0	1	0	0	0	10913	1281	45	4	965	4	ODZ4	11	78380034	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	12189709	78380034	56626482	57	4795											
FOLH1B	219595	broad.mit.edu	37	chr11	89405127	89405127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctcagagtggagcagCtgttgttcatgaaactgtga	10	11	12	8	0	2	4	2	3	0	1	2	5	2	5	1	1	3	4	1	1	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr11:89405127C>G	uc001pda.3	+	4	780	c.254C>G	c.(253-255)gCt>gGt	p.A85G		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	85					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						AGTGGAGCAGCTGTTGTTCAT	0.418													G	89405127	C	G	89405127	3	3	73	1	0	0	0	0	1	0	0	0	6029	797	28	4	264	4	FOLH1B	11	89405127	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	11025093	89405127	45601389	58	4796											
ERC1	23085	broad.mit.edu	37	chr12	1291107	1291107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggagcggacaattgaacGcttaaaggagcagagggaca	15	5	14	7	2	1	2	1	1	0	1	1	6	1	6	0	4	3	2	0	4	4	2	rs138512011	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:1291107G>A	uc001qjb.2	+	9	2133	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	ERC1_uc001qiz.2_Non-coding_Transcript|ERC1_uc001qjc.2_Missense_Mutation_p.R603H|ERC1_uc001qja.2_Non-coding_Transcript|ERC1_uc001qjd.2_Non-coding_Transcript|ERC1_uc001qjf.2_Missense_Mutation_p.R631H|ERC1_uc010sdv.1_Missense_Mutation_p.R379H|ERC1_uc009zdp.3_Missense_Mutation_p.R271H	NM_178040	NP_829884	Q8IUD2	RB6I2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 1 (ERC1), transcript variant epsilon, mRNA.	631					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			ACAATTGAACGCTTAAAGGAG	0.378													A	1291107	G	A	1291107	3	1	73	1	0	0	0	0	1	0	0	0	5251	1087	38	1	1926	1	ERC1	12	1291107	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08		1291107	132560788	59	4797											
FOXJ2	55810	broad.mit.edu	37	chr12	8192492	8192492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccccagctgaccctccgaGctaccattgagaagcttgga	9	8	9	15	1	0	2	0	2	0	1	2	5	2	3	5	1	4	3	5	1	2	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:8192492G>A	uc001qtu.3	+	1	1149	c.64G>A	c.(64-66)Gct>Act	p.A22T	FOXJ2_uc001qtt.1_Missense_Mutation_p.A22T	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	22					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		GACCCTCCGAGCTACCATTGA	0.582													A	8192492	G	A	8192492	3	1	73	1	0	0	0	0	1	0	0	0	6063	971	34	2	66	2	FOXJ2	12	8192492	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	6901385	8192492	125659403	60	4798											
C12orf35	55196	broad.mit.edu	37	chr12	32138039	32138039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaccaagggaacgtattaGatatggaagtaaagaaaaag	20	7	11	3	1	0	3	0	0	0	3	0	5	0	5	1	2	1	2	1	2	11	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:32138039G>C	uc001rks.3	+	3	4564	c.4150G>C	c.(4150-4152)Gat>Cat	p.D1384H		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1384										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			GAACGTATTAGATATGGAAGT	0.343													C	32138039	G	C	32138039	3	2	73	1	0	0	0	0	1	0	0	0	1695	942	33	4	4152	4	C12orf35	12	32138039	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	23945547	32138039	101713856	61	4799											
LARP4	113251	broad.mit.edu	37	chr12	50831593	50831593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgttgtattgtaattcttaGagagattcctgaaacaacac	13	13	8	7	1	1	3	0	1	1	2	2	4	2	3	1	0	2	3	1	0	5	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:50831593G>A	uc001rwp.2	+	5	813	c.611G>A	c.(610-612)aGa>aAa	p.R204K	LARP4_uc001rwq.2_Missense_Mutation_p.R204K|LARP4_uc001rwt.2_Missense_Mutation_p.R204K|LARP4_uc001rws.2_Missense_Mutation_p.R203K|LARP4_uc001rwr.2_Missense_Mutation_p.R204K|LARP4_uc021qxv.1_Missense_Mutation_p.R134K|LARP4_uc009zlr.1_Missense_Mutation_p.R23K|LARP4_uc001rwm.3_Missense_Mutation_p.R204K|LARP4_uc001rwn.3_Missense_Mutation_p.R134K	NM_052879	NP_443111	Q71RC2	LARP4_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4 (LARP4), transcript variant 1, mRNA.	204	RRM.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						GTAATTCTTAGAGAGATTCCT	0.338													A	50831593	G	A	50831593	3	1	73	1	0	0	0	0	1	0	0	0	8689	942	33	2	633	2	LARP4	12	50831593	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	18693554	50831593	83020302	62	4800											
C12orf63	374467	broad.mit.edu	37	chr12	97052014	97052014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatacagaacaagtgacaCcacttctggtgtatgcacag	13	9	10	9	0	1	2	0	1	1	1	1	2	1	2	1	2	3	3	1	2	5	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr12:97052014C>A	uc021rcc.1	+	4	703	c.625C>A	c.(625-627)Cca>Aca	p.P209T				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	209										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAAGTGACACCACTTCTGGT	0.388													A	97052014	C	A	97052014	3	1	73	1	0	0	0	0	1	0	0	0	1719	507	18	4	639	4	C12orf63	12	97052014	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	46220421	97052014	36799881	63	4801											
CHD8	57680	broad.mit.edu	37	chr14	21876716	21876716	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggatgcagttctgccTgcagattcaccatgggaaaa	12	8	11	10	0	2	1	1	0	1	1	2	3	2	3	3	2	4	3	3	2	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:21876716T>C	uc001war.2	-	12	2552	c.2487_splice	c.e12-1	p.R829_splice	CHD8_uc001was.2_Splice_Site_p.R550_splice|CHD8_uc001wav.1_Splice_Site	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	829	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CAGTTCTGCCTGCAGATTCAC	0.353													C	21876716	T	C	21876716	5	2	73	1	0	0	0	0	0	0	1	0	3361	1594	55	3	5364	3	CHD8	14	21876716	Splice_Site	SNP	T	TCGA-06-1804-01A-01D-1696-08		21876716	85472824	64	4802											
LRRC16B	90668	broad.mit.edu	37	chr14	24538046	24538046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccagtggctgtgcccAggggccgccagcctccccag	6	4	13	18	1	0	0	0	0	0	0	1	0	1	0	8	3	3	1	8	3	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:24538046A>G	uc001wlj.2	+	37	4010	c.3853A>G	c.(3853-3855)Agg>Ggg	p.R1285G	LRRC16B_uc001wlk.2_Missense_Mutation_p.R338G|CPNE6_uc010tnv.2_5'Flank|CPNE6_uc001wlm.3_5'Flank|CPNE6_uc001wll.3_5'Flank	NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	1285										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		GGCTGTGCCCAGGGGCCGCCA	0.637													G	24538046	A	G	24538046	3	3	73	1	0	0	0	0	1	0	0	0	9042	179	7	3	4003	3	LRRC16B	14	24538046	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	2661330	24538046	82811494	65	4803											
KIAA0284	283638	broad.mit.edu	37	chr14	105353636	105353636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacttggcccgacggacatGggccgtggagagccggtacg	7	5	16	13	5	0	1	0	0	0	1	0	4	0	2	4	5	2	1	4	5	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr14:105353636G>A	uc001yps.3	+	10	3156	c.2850G>A	c.(2848-2850)atG>atA	p.M950I	KIAA0284_uc010axb.3_Missense_Mutation_p.M950I|KIAA0284_uc001ypt.3_5'Flank	NM_015005	NP_055820	Q9Y4F5	K0284_HUMAN	Homo sapiens KIAA0284 (KIAA0284), transcript variant 2, mRNA.	1020						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|prostate(3)|soft_tissue(1)	14		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000472)|OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0149)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.178)		CGACGGACATGGGCCGTGGAG	0.701													A	105353636	G	A	105353636	3	1	73	1	0	0	0	0	1	0	0	0	8224	1348	47	2	3102	2	KIAA0284	14	105353636	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	80815590	105353636	1995904	66	4804											
UNKL	64718	broad.mit.edu	37	chr16	1417320	1417320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgggcacgctccttggcctCctgcgcctctcgctgccagg	3	8	12	18	4	1	0	0	0	1	0	4	0	3	0	5	3	2	3	5	3	0	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:1417320C>T	uc010brn.2	-	13	1823	c.1810G>A	c.(1810-1812)Gag>Aag	p.E604K	UNKL_uc002cln.3_Missense_Mutation_p.E106K|UNKL_uc002clp.3_Missense_Mutation_p.E106K|UNKL_uc002clo.3_Missense_Mutation_p.E103K	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	604						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TCCTTGGCCTCCTGCGCCTCT	0.667													T	1417320	C	T	1417320	3	4	73	1	0	0	0	0	1	0	0	0	17103	864	30	2	390	2	UNKL	16	1417320	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		1417320	88937433	67	4805											
ABCA3	21	broad.mit.edu	37	chr16	2369841	2369841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagccttcccggatgtacCctgggtgcgggagcagagga	8	6	17	10	2	0	1	0	0	0	1	1	5	1	5	3	5	4	2	3	5	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:2369841C>T	uc002cpy.1	-	8	1326	c.614_splice	c.e8-1	p.G205_splice	ABCA3_uc010bsk.1_Splice_Site_p.G205_splice|ABCA3_uc010bsl.1_Splice_Site_p.G205_splice	NM_001089	NP_001080	Q99758	ABCA3_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 3 (ABCA3), mRNA.	205					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCGGATGTACCCTGGGTGCGG	0.657													T	2369841	C	T	2369841	3	4	73	1	0	0	0	0	1	0	0	0	33	637	22	2	4604	2	ABCA3	16	2369841	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	952521	2369841	87984912	68	4806											
GRIN2A	2903	broad.mit.edu	37	chr16	10274212	10274212	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgctcggcgccggaccGcgccagaccagaagggccgg	6	1	17	17	8	0	2	0	0	0	2	1	3	0	3	6	4	0	1	6	4	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:10274212G>A	uc010uym.2	-	2	367	c.57C>T	c.(55-57)cgC>cgT	p.R19R	GRIN2A_uc002czo.4_Silent_p.R19R|GRIN2A_uc002czr.4_Silent_p.R19R|GRIN2A_uc010buk.3_Silent_p.R19R	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	19					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R19C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GCGCCGGACCGCGCCAGACCA	0.657													A	10274212	G	A	10274212	2	1	73	1	0	0	0	0	0	0	0	1	6834	1074	38	1		1	GRIN2A	16	10274212	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08	7904371	10274212	80080541	69	4807											
GGA2	23062	broad.mit.edu	37	chr16	23505700	23505700	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcgcatgtgtggggCtacagggaaacaaaaagacc	13	4	15	9	1	0	1	0	0	0	1	0	2	0	2	2	4	2	2	2	4	4	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:23505700C>T	uc002dlq.3	-	3	260	c.177_splice	c.e3-1	p.G59_splice	GGA2_uc010bxo.2_Splice_Site	NM_015044	NP_055859	Q9UJY4	GGA2_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 2 (GGA2), mRNA.	59	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ATGTGTGGGGCTACAGGGAAA	0.522													T	23505700	C	T	23505700	5	4	73	1	0	0	0	0	0	0	1	0	6409	811	28	2	1725	2	GGA2	16	23505700	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	13231488	23505700	66849053	70	4808											
CETP	1071	broad.mit.edu	37	chr16	57017290	57017290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaaggcgtgagcctcttCgacatcatcaaccctgagat	12	8	9	12	2	3	2	2	2	1	1	4	4	3	2	2	1	3	1	2	1	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57017290C>T	uc002eki.2	+	14	1431	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	CETP_uc002ekj.2_Silent_p.F398F	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	458					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						TGAGCCTCTTCGACATCATCA	0.592													T	57017290	C	T	57017290	2	4	73	1	0	0	0	0	0	0	0	1	3307	883	31	1		1	CETP	16	57017290	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	33511590	57017290	33337463	71	4809											
GPR114	221188	broad.mit.edu	37	chr16	57609404	57609404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccgctcagaagcagaggCcaaggcacagatagaggcct	12	4	14	11	1	1	4	1	0	0	4	1	4	1	4	3	3	2	3	3	3	3	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr16:57609404C>T	uc002ely.3	+	11	2064	c.1541C>T	c.(1540-1542)gCc>gTc	p.A514V	GPR114_uc002elx.4_Missense_Mutation_p.A514V|GPR114_uc010vhr.2_3'UTR	NM_153837	NP_722579	Q8IZF4	GP114_HUMAN	Homo sapiens G protein-coupled receptor 114 (GPR114), mRNA.	514					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						GAAGCAGAGGCCAAGGCACAG	0.612													T	57609404	C	T	57609404	3	4	73	1	0	0	0	0	1	0	0	0	6685	739	26	2	1583	2	GPR114	16	57609404	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	592114	57609404	32745349	72	4810											
SPDYE4	388333	broad.mit.edu	37	chr17	8658884	8658884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgccacgagaagaggcCggcacggctaaaatacgcta	13	6	12	10	4	0	2	0	0	0	2	0	3	0	2	2	3	2	4	2	3	6	5			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8658884C>T	uc010cnz.1	-	3	616	c.439G>A	c.(439-441)Ggc>Agc	p.G147S		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	147										breast(1)|endometrium(2)|kidney(1)	4						GAGAAGAGGCCGGCACGGCTA	0.493													T	8658884	C	T	8658884	3	4	73	1	0	0	0	0	1	0	0	0	15127	652	23	1	286	1	SPDYE4	17	8658884	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		8658884	72536326	73	4811											
PIK3R5	23533	broad.mit.edu	37	chr17	8784088	8784088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctctggcttgtagcaCggtgagacctcacatctgtg	6	13	10	12	1	4	1	1	1	3	1	5	2	4	1	1	2	1	3	1	2	1	3	rs141893152	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:8784088C>T	uc002glt.3	-	18	2578	c.2511G>A	c.(2509-2511)ccG>ccA	p.P837P	PIK3R5_uc010vuz.2_Silent_p.P837P|PIK3R5_uc021tqc.1_Silent_p.P451P|PIK3R5_uc010cob.2_Silent_p.P451P|PIK3R5_uc010coa.2_Silent_p.P451P|PIK3R5_uc002glu.4_Silent_p.P451P	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	837					platelet activation	cytosol|membrane|nucleus		p.P837L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GCTTGTAGCACGGTGAGACCT	0.647													T	8784088	C	T	8784088	2	4	73	1	0	0	0	0	0	0	0	1	11999	523	19	1		1	PIK3R5	17	8784088	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	125204	8784088	72411122	74	4812											
CCL15	348249	broad.mit.edu	37	chr17	34313606	34313606	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaggcattgcactcaCgtgaggaggattcagtcttg	12	9	12	8	1	3	2	2	1	1	1	3	4	3	4	0	3	1	2	0	3	2	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:34313606C>A	uc010wcs.2	-	5		c.1075_splice	c.e5+1		CCL14_uc010wcq.1_Intron|CCL14_uc010wcr.1_Intron|CCL14_uc002hkn.2_Intron|CCL15_uc010wct.2_Splice_Site|BC070118_uc002hkq.3_Non-coding_Transcript			Q16663	CCL15_HUMAN	Homo sapiens CCL14-CCL15 readthrough (CCL14-CCL15), transcript variant 1, non-coding RNA.						cell-cell signaling|cellular calcium ion homeostasis|immune response	extracellular space	chemoattractant activity|chemokine activity|heparin binding|signal transducer activity			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATTGCACTCACGTGAGGAGGA	0.557													A	34313606	C	A	34313606	5	1	73	1	0	0	0	0	0	0	1	0	2914	550	19	4		4	CCL15	17	34313606	Splice_Site	SNP	C	TCGA-06-1804-01A-01D-1696-08	25529518	34313606	46881604	75	4813											
ERN1	2081	broad.mit.edu	37	chr17	62144066	62144066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgtctccttggggaaCgggtacttccactttgtgat	5	14	11	11	1	2	1	0	1	2	0	4	2	3	2	3	3	2	1	3	3	2	4			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:62144066C>T	uc002jdz.2	-	7	920	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433	NP_001424	O75460	ERN1_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 1 (ERN1), mRNA.	269					activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													T	62144066	C	T	62144066	2	4	73	1	0	0	0	0	0	0	0	1	5278	523	19	1		1	ERN1	17	62144066	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	27830460	62144066	19051144	76	4814											
SLC16A5	9121	broad.mit.edu	37	chr17	73096774	73096774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctactgcctggcgtacaGcgtgtccatgagtggcatcg	6	9	15	11	3	0	1	0	1	0	0	2	1	1	1	2	3	4	3	2	3	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:73096774G>A	uc002jmr.3	+	4	1388	c.1016G>A	c.(1015-1017)aGc>aAc	p.S339N	SLC16A5_uc002jmt.3_Missense_Mutation_p.S339N|SLC16A5_uc002jmu.3_Missense_Mutation_p.S339N|SLC16A5_uc010wrt.2_Missense_Mutation_p.S379N	NM_004695	NP_004686	O15375	MOT6_HUMAN	Homo sapiens solute carrier family 16, member 5 (monocarboxylic acid transporter 6) (SLC16A5), mRNA.	339					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CTGGCGTACAGCGTGTCCATG	0.592													A	73096774	G	A	73096774	3	1	73	1	0	0	0	0	1	0	0	0	14505	971	34	2	1026	2	SLC16A5	17	73096774	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	10952708	73096774	8098436	77	4815											
ENGASE	64772	broad.mit.edu	37	chr17	77081747	77081747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctgctgctagacctcctCgtttgcttctcacggccgcc	3	12	9	17	3	1	1	1	0	1	1	4	1	2	1	5	1	4	4	5	1	1	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr17:77081747C>T	uc002jwv.3	+	12	1754	c.1746C>T	c.(1744-1746)ctC>ctT	p.L582L	ENGASE_uc002jww.3_Silent_p.L287L	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	582						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TAGACCTCCTCGTTTGCTTCT	0.662													T	77081747	C	T	77081747	2	4	73	1	0	0	0	0	0	0	0	1	5159	871	31	1		1	ENGASE	17	77081747	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	3984973	77081747	4113463	78	4816											
CCDC68	80323	broad.mit.edu	37	chr18	52604167	52604167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtttctcagagctgctgctCctgcttctctggaggcttgc	3	14	11	13	1	2	1	1	0	2	1	5	2	3	2	1	2	5	6	1	2	0	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:52604167C>T	uc002lfs.3	-	5	540	c.368G>A	c.(367-369)gGa>gAa	p.G123E	CCDC68_uc002lft.3_Missense_Mutation_p.G123E	NM_001143829	NP_079490	Q9H2F9	CCD68_HUMAN	Homo sapiens coiled-coil domain containing 68 (CCDC68), transcript variant 2, mRNA.	123										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		AGCTGCTGCTCCTGCTTCTCT	0.418													T	52604167	C	T	52604167	3	4	73	1	0	0	0	0	1	0	0	0	2868	855	30	2	667	2	CCDC68	18	52604167	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		52604167	25473081	79	4817											
DOK6	220164	broad.mit.edu	37	chr18	67365777	67365777	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgatgtggcctctcagcTcactgaggagatacggtcgg	7	10	15	9	2	2	3	2	2	1	1	4	4	2	3	1	5	2	1	1	5	1	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr18:67365777T>A	uc002lkl.3	+	4	744	c.547T>A	c.(547-549)Tca>Aca	p.S183T		NM_152721	NP_689934	Q6PKX4	DOK6_HUMAN	Homo sapiens docking protein 6 (DOK6), mRNA.	183	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				GCCTCTCAGCTCACTGAGGAG	0.463													A	67365777	T	A	67365777	3	1	73	1	0	0	0	0	1	0	0	0	4740	1551	54	5	565	5	DOK6	18	67365777	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	14761610	67365777	10711471	80	4818											
FZR1	51343	broad.mit.edu	37	chr19	3531983	3531983	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagagggacatccgcAccccgccactgcagtcggag	8	5	12	16	3	0	1	0	0	0	1	3	3	2	3	5	2	2	3	5	2	0	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:3531983A>C	uc010dtk.2	+	8	932	c.898A>C	c.(898-900)Acc>Ccc	p.T300P	FZR1_uc002lxt.2_Missense_Mutation_p.T300P|FZR1_uc002lxv.2_Missense_Mutation_p.T211P	NM_001136198	NP_001129670	Q9UM11	FZR_HUMAN	Homo sapiens fizzy/cell division cycle 20 related 1 (Drosophila) (FZR1), transcript variant 1, mRNA.	300					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCCGCACCCCGCCACT	0.711													C	3531983	A	C	3531983	3	2	73	1	0	0	0	0	1	0	0	0	6190	159	6	5	932	5	FZR1	19	3531983	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08		3531983	55597000	81	4819											
ZNF442	79973	broad.mit.edu	37	chr19	12461021	12461021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccacatttacatttataggGtttctctccagtgtgagttg	8	16	8	9	0	1	1	0	1	1	0	3	1	2	1	2	1	1	2	2	1	3	7			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:12461021G>A	uc002mtr.1	-	5	1989	c.1378C>T	c.(1378-1380)Ccc>Tcc	p.P460S	ZNF442_uc010xmk.1_Missense_Mutation_p.P391S	NM_030824	NP_110451	Q9H7R0	ZN442_HUMAN	Homo sapiens zinc finger protein 442 (ZNF442), mRNA.	460					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						CATTTATAGGGTTTCTCTCCA	0.378													A	12461021	G	A	12461021	3	1	73	1	0	0	0	0	1	0	0	0	18016	1261	44	2	509	2	ZNF442	19	12461021	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	8929038	12461021	46667962	82	4820											
PSG8	440533	broad.mit.edu	37	chr19	43268388	43268388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggctgggcttcaatcGtgacttgggcagtcgtgggt	4	13	17	7	2	1	1	1	1	0	0	3	1	1	1	0	5	0	4	0	5	1	3	rs142689447		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:43268388G>A	uc002ouo.2	-	1	208	c.110C>T	c.(109-111)aCg>aTg	p.T37M	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T37M|PSG8_uc010ein.3_Intron|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	37	Ig-like V-type.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGCTTCAATCGTGACTTGGGC	0.463													A	43268388	G	A	43268388	3	1	73	1	0	0	0	0	1	0	0	0	12746	1145	40	1	1207	1	PSG8	19	43268388	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	30807367	43268388	15860595	83	4821											
RTN2	6253	broad.mit.edu	37	chr19	45998164	45998164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggagaaggtcagctccCggggggtgccccagtcctgc	6	7	16	12	1	1	1	1	0	0	1	3	2	3	1	4	5	3	2	4	5	2	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:45998164C>T	uc002pcb.3	-	2	409	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RTN2_uc002pcc.3_Missense_Mutation_p.R60Q|RTN2_uc002pcd.3_Non-coding_Transcript	NM_005619	NP_005610	O75298	RTN2_HUMAN	Homo sapiens reticulon 2 (RTN2), transcript variant 1, mRNA.	60						integral to endoplasmic reticulum membrane	signal transducer activity	p.R60W(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		GGTCAGCTCCCGGGGGGTGCC	0.662													T	45998164	C	T	45998164	3	4	73	1	0	0	0	0	1	0	0	0	13817	652	23	1	1494	1	RTN2	19	45998164	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	2729776	45998164	13130819	84	4822											
TRPM4	54795	broad.mit.edu	37	chr19	49686170	49686170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcacccaggccagggcttCggggagagcgtaaggaccgg	8	4	16	13	3	1	1	1	0	0	1	2	3	1	2	4	6	1	2	4	6	1	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr19:49686170C>T	uc002pmw.3	+	10	1707	c.1599C>T	c.(1597-1599)ttC>ttT	p.F533F	TRPM4_uc010emu.3_Silent_p.F533F|TRPM4_uc010yak.2_Intron|TRPM4_uc002pmx.3_Silent_p.F359F|TRPM4_uc010emv.3_Silent_p.F418F|TRPM4_uc010yal.2_Silent_p.F179F|TRPM4_uc002pmy.3_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	533					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GCCAGGGCTTCGGGGAGAGCG	0.711													T	49686170	C	T	49686170	2	4	73	1	0	0	0	0	0	0	0	1	16689	883	31	1		1	TRPM4	19	49686170	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	3688006	49686170	9442813	85	4823											
SULF2	55959	broad.mit.edu	37	chr20	46318884	46318884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttacatgtgctgagatgcGtttgggaagaggcgtgaata	10	11	15	5	2	0	3	0	2	0	2	0	5	0	4	0	2	3	3	0	2	4	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:46318884G>A	uc002xto.3	-	4	1053	c.723C>T	c.(721-723)aaC>aaT	p.N241N	SULF2_uc002xtr.3_Silent_p.N241N|SULF2_uc002xtq.3_Silent_p.N241N|SULF2_uc010ghv.1_Silent_p.N241N	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	241					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.N241K(2)		breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGAGATGCGTTTGGGAAGA	0.567													A	46318884	G	A	46318884	2	1	73	1	0	0	0	0	0	0	0	1	15467	1136	40	1		1	SULF2	20	46318884	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		46318884	16706636	86	4824											
HRH3	11255	broad.mit.edu	37	chr20	60791774	60791774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgacgctgaggaagggcGtaaagaactccagggtggaa	13	5	17	6	2	0	3	0	2	0	1	1	5	1	5	1	5	1	2	1	5	5	1			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr20:60791774G>A	uc002yci.3	-	2	923	c.626C>T	c.(625-627)aCg>aTg	p.T209M	HRH3_uc002ycf.2_Missense_Mutation_p.T209M|HRH3_uc002ych.3_Missense_Mutation_p.T209M|HRH3_uc002ycg.3_Missense_Mutation_p.T209M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	209					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	GAGGAAGGGCGTAAAGAACTC	0.612													A	60791774	G	A	60791774	3	1	73	1	0	0	0	0	1	0	0	0	7412	1145	40	1	715	1	HRH3	20	60791774	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	14472890	60791774	2233746	87	4825											
COL6A2	1292	broad.mit.edu	37	chr21	47535812	47535812	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggcaacatgggtgagccGggagagcctggccagaaggg	11	3	19	8	1	0	3	0	1	0	2	0	4	0	3	3	5	3	1	3	5	3	0	rs140790797		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr21:47535812G>A	uc002zia.1	+	5	910	c.828G>A	c.(826-828)ccG>ccA	p.P276P	COL6A2_uc002zhz.1_Silent_p.P276P|COL6A2_uc002zhy.1_Silent_p.P276P	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	276	Triple-helical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TGGGTGAGCCGGGAGAGCCTG	0.662													A	47535812	G	A	47535812	2	1	73	1	0	0	0	0	0	0	0	1	3731	1103	39	1		1	COL6A2	21	47535812	Silent	SNP	G	TCGA-06-1804-01A-01D-1696-08		47535812	594083	88	4826											
TRIOBP	11078	broad.mit.edu	37	chr22	38119624	38119624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcacccaactggataaccCcagaacctcttctacccagc	13	6	5	17	0	2	1	0	0	2	1	2	2	2	2	5	1	6	1	5	1	5	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:38119624C>A	uc003atr.3	+	6	1332	c.1061C>A	c.(1060-1062)cCc>cAc	p.P354H	TRIOBP_uc003atu.3_Missense_Mutation_p.P182H|TRIOBP_uc003atq.1_Missense_Mutation_p.P354H|TRIOBP_uc003ats.1_Missense_Mutation_p.P182H	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	354					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CTGGATAACCCCAGAACCTCT	0.577													A	38119624	C	A	38119624	3	1	73	1	0	0	0	0	1	0	0	0	16654	623	22	4	1079	4	TRIOBP	22	38119624	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08		38119624	13184942	89	4827											
PNPLA5	150379	broad.mit.edu	37	chr22	44287074	44287074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagcatcctgcagctgCtgcttgacgtgctcgatggg	6	9	15	11	2	0	2	0	1	0	1	2	3	1	2	1	2	6	7	1	2	0	1	rs79793310	byFrequency	TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chr22:44287074C>A	uc003beg.3	-	1	427	c.294G>T	c.(292-294)caG>caT	p.Q98H	PNPLA5_uc003beh.3_Intron|PNPLA5_uc021wqw.1_Missense_Mutation_p.Q98H|PNPLA5_uc021wqx.1_Intron|PNPLA5_uc011aqc.2_5'UTR	NM_138814	NP_620169	Q7Z6Z6	PLPL5_HUMAN	Homo sapiens patatin-like phospholipase domain containing 5 (PNPLA5), transcript variant 1, mRNA.	98	Patatin.				lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CCTGCAGCTGCTGCTTGACGT	0.662													A	44287074	C	A	44287074	3	1	73	1	0	0	0	0	1	0	0	0	12245	796	28	4	1027	4	PNPLA5	22	44287074	Missense_Mutation	SNP	C	TCGA-06-1804-01A-01D-1696-08	6167450	44287074	7017492	90	4828											
VCX2	51480	broad.mit.edu	37	chrX	8138151	8138151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacctcgctctcctgactCagtggttcttccacctcgct	4	13	6	18	2	3	1	1	1	2	0	8	1	5	1	5	1	0	3	5	1	0	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:8138151C>T	uc004csb.3	-	2	649	c.342G>A	c.(340-342)ctG>ctA	p.L114L		NM_016378	NP_057462	Q9H322	VCX2_HUMAN	Homo sapiens variable charge, X-linked 2 (VCX2), mRNA.	114	2 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.									endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				TCTCCTGACTCAGTGGTTCTT	0.642													T	8138151	C	T	8138151	2	4	73	1	0	0	0	0	0	0	0	1	17245	813	29	2		2	VCX2	23	8138151	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08		8138151	147132409	91	4829											
PHEX	5251	broad.mit.edu	37	chrX	22112133	22112133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttacaagttcatggtggaTactgccgtgcttttaggagc	8	14	11	8	1	1	0	1	0	0	0	1	2	1	2	1	3	5	2	1	3	4	6			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:22112133T>C	uc004dah.3	+	6	968	c.765T>C	c.(763-765)gaT>gaC	p.D255D	PHEX_uc011mjr.2_Silent_p.D255D|PHEX_uc011mjs.2_Silent_p.D158D	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	255					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCATGGTGGATACTGCCGTGC	0.408													C	22112133	T	C	22112133	2	2	73	1	0	0	0	0	0	0	0	1	11896	1403	49	3		3	PHEX	23	22112133	Silent	SNP	T	TCGA-06-1804-01A-01D-1696-08	13973982	22112133	133158427	92	4830											
BCOR	54880	broad.mit.edu	37	chrX	39922999	39923002	+	Frame_Shift_Del	DEL	CTTC	CTTC	-																															aggctgagtggcctgggtcaCttccttcctgctttgccggc																										TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:39922999_39923002delCTTC	uc004den.4	-	7	3998_4001	c.3706_3709delGAAG	c.(3706-3711)gaagtgfs	p.E1236fs	BCOR_uc004dep.4_Frame_Shift_Del_p.E1202fs|BCOR_uc004deo.4_Frame_Shift_Del_p.E1184fs|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Frame_Shift_Del_p.E1202fs	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1236					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GCCTGGGTCACTTCCTTCCTGCTT	0.559			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39923002	CTTC	-	39922999	7	5	73	1	0	1	0	1	0	0	0	0	1391	565	20	0	1590	0	BCOR	23	39922999	Frame_Shift_Del	DEL	CTTC	TCGA-06-1804-01A-01D-1696-08	17810866	39922999	115347561	93	4831											
SLC9A7	84679	broad.mit.edu	37	chrX	46618211	46618211	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagccagatggtgaggAtggtgagcgtgagcagcagg	11	6	19	5	1	0	6	0	4	0	2	0	7	0	7	1	4	4	2	1	4	1	0			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:46618211A>T	uc004dgu.1	-	0	262	c.254T>A	c.(253-255)aTc>aAc	p.I85N	SLC9A7_uc004dgv.1_Missense_Mutation_p.I85N	NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	85					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GATGGTGAGGATGGTGAGCGT	0.632													T	46618211	A	T	46618211	3	4	73	1	0	0	0	0	1	0	0	0	14813	333	12	5	1991	5	SLC9A7	23	46618211	Missense_Mutation	SNP	A	TCGA-06-1804-01A-01D-1696-08	6695212	46618211	108652349	94	4832											
HUWE1	10075	broad.mit.edu	37	chrX	53600812	53600812	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgccagaagacgaaggatAgtggaggtaggcattaaagg	14	7	15	5	1	1	2	0	0	1	2	1	5	1	4	1	5	1	2	1	5	6	3			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:53600812A>G	uc004dsp.3	-	46	6612	c.6210T>C	c.(6208-6210)acT>acC	p.T2070T	HUWE1_uc004dsn.3_Silent_p.T894T	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2070					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GACGAAGGATAGTGGAGGTAG	0.502													G	53600812	A	G	53600812	2	3	73	1	0	0	0	0	0	0	0	1	7519	407	15	3		3	HUWE1	23	53600812	Silent	SNP	A	TCGA-06-1804-01A-01D-1696-08	6982601	53600812	101669748	95	4833											
POF1B	79983	broad.mit.edu	37	chrX	84634246	84634246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggggagagcacttcccGtgagttgaaggggtccaagg	10	6	18	7	1	0	4	0	2	0	2	2	6	2	4	2	5	1	2	2	5	2	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:84634246G>A	uc004eer.2	-	1	360	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	POF1B_uc004ees.3_Missense_Mutation_p.R72W	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	72							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCACTTCCCGTGAGTTGAAG	0.517													A	84634246	G	A	84634246	3	1	73	1	0	0	0	0	1	0	0	0	12259	1144	40	1	1619	1	POF1B	23	84634246	Missense_Mutation	SNP	G	TCGA-06-1804-01A-01D-1696-08	31033434	84634246	70636314	96	4834											
AGTR2	186	broad.mit.edu	37	chrX	115303791	115303791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatatacatcttcaacctCgctgtggctgatttactcct	9	14	6	12	1	2	1	1	1	1	0	4	1	3	1	2	1	4	3	2	1	4	5	rs13306157		TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:115303791C>T	uc022cdd.1	+	0	258	c.258C>T	c.(256-258)ctC>ctT	p.L86L	AGTR2_uc004eqh.4_Silent_p.L86L	NM_000686	NP_000677	P50052	AGTR2_HUMAN	Homo sapiens angiotensin II receptor, type 2 (AGTR2), mRNA.	86					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TCTTCAACCTCGCTGTGGCTG	0.378													T	115303791	C	T	115303791	2	4	73	1	0	0	0	0	0	0	0	1	402	871	31	1		1	AGTR2	23	115303791	Silent	SNP	C	TCGA-06-1804-01A-01D-1696-08	30669545	115303791	39966769	97	4835											
MAGEA5	4104	broad.mit.edu	37	chrX	151283685	151283685	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcagccaccttcttacTgagtgctgctcggaacacag	10	9	9	13	1	2	1	1	1	1	0	3	2	2	2	2	1	5	2	2	1	3	2			TCGA-06-1804-01A-01D-1696-08	TCGA-06-1804-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a1ff46-8d28-451e-937f-bdad42bddd64	4302bb44-3440-4b71-8a4a-8d8b6acebcaa	g.chrX:151283685T>A	uc004ffj.3	-	2	500	c.328A>T	c.(328-330)Agt>Tgt	p.S110C	MAGEA5_uc022cgy.1_Missense_Mutation_p.S110C	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	110	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					ACCTTCTTACTGAGTGCTGCT	0.488													A	151283685	T	A	151283685	3	1	73	1	0	0	0	0	1	0	0	0	9242	1580	55	5	50	5	MAGEA5	23	151283685	Missense_Mutation	SNP	T	TCGA-06-1804-01A-01D-1696-08	35979894	151283685	3986875	98	4836											
ARID1A	8289	broad.mit.edu	37	chr1	27106176	27106176	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accgaggatggagctaagagTtcagaggccatcaaggagag	14	5	15	7	1	2	3	2	0	0	3	2	7	2	5	2	4	1	2	2	4	2	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:27106176T>G	uc001bmv.1	+	19	6160	c.5787T>G	c.(5785-5787)agT>agG	p.S1929R	ARID1A_uc001bmu.1_Missense_Mutation_p.S1712R|ARID1A_uc001bmx.1_Missense_Mutation_p.S775R|ARID1A_uc009vsm.1_Missense_Mutation_p.S257R|ARID1A_uc009vsn.1_Missense_Mutation_p.S171R	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1929					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.K1928*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GAGCTAAGAGTTCAGAGGCCA	0.532			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27106176	T	G	27106176	3	3	74	1	0	0	0	0	1	0	0	0	916	1722	60	5	5865	5	ARID1A	1	27106176	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		27106176	222144445	1	4837											
OR2L3	391192	broad.mit.edu	37	chr1	248224277	248224277	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcactgggtgtgggatTcagagtttcttcttctcggc	4	16	11	10	1	5	1	2	0	3	1	7	2	6	2	1	3	0	1	1	3	0	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr1:248224277T>A	uc001idx.1	+	0	294	c.294T>A	c.(292-294)atT>atA	p.I98I	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G97A(1)		cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GGTGTGGGATTCAGAGTTTCT	0.428													A	248224277	T	A	248224277	2	1	74	1	0	0	0	0	0	0	0	1	11084	1771	62	5		5	OR2L3	1	248224277	Silent	SNP	T	TCGA-06-1806-01A-02D-1845-08	221118101	248224277	1026344	2	4838											
ANTXR1	84168	broad.mit.edu	37	chr2	69240637	69240637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggctgcgggccatggcCacggcggagcggagagccct	5	3	18	15	5	0	1	0	0	0	1	0	3	0	2	4	6	3	1	4	6	0	0			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr2:69240637C>T	uc002sfg.3	+	0	362	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ANTXR1_uc002sfe.3_Silent_p.A2A|ANTXR1_uc002sff.3_Silent_p.A2A|ANTXR1_uc002sfd.2_Silent_p.A2A	NM_032208	NP_115584	Q9H6X2	ANTR1_HUMAN	Homo sapiens anthrax toxin receptor 1 (ANTXR1), transcript variant 1, mRNA.	2					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GGGCCATGGCCACGGCGGAGC	0.721									Familial Infantile Hemangioma				T	69240637	C	T	69240637	2	4	74	1	0	0	0	0	0	0	0	1	711	581	21	2		2	ANTXR1	2	69240637	Silent	SNP	C	TCGA-06-1806-01A-02D-1845-08		69240637	173958736	3	4839											
IDUA	3425	broad.mit.edu	37	chr4	995272	995272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtaggtacggactggcGcatgtttccaagtggaactt	9	10	14	8	2	0	0	0	0	0	0	1	2	1	2	1	5	2	5	1	5	4	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:995272G>A	uc003gby.3	+	4	598	c.510G>A	c.(508-510)gcG>gcA	p.A170A	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.A123A	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	170					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	ACGGACTGGCGCATGTTTCCA	0.582													A	995272	G	A	995272	2	1	74	1	0	0	0	0	0	0	0	1	7562	1074	38	1		1	IDUA	4	995272	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		995272	190159004	4	4840											
TMEM184C	55751	broad.mit.edu	37	chr4	148545074	148545074	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtgatattgcaacacttAgtgcattatacacaacctga	13	12	8	8	0	0	2	0	2	0	0	0	2	0	2	1	1	5	2	1	1	6	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr4:148545074A>G	uc003ila.4	+	1	782	c.213A>G	c.(211-213)ttA>ttG	p.L71L		NM_018241	NP_060711	Q9NVA4	T184C_HUMAN	Homo sapiens transmembrane protein 184C (TMEM184C), mRNA.	71						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TGCAACACTTAGTGCATTATA	0.338													G	148545074	A	G	148545074	2	3	74	1	0	0	0	0	0	0	0	1	16206	417	15	3		3	TMEM184C	4	148545074	Silent	SNP	A	TCGA-06-1806-01A-02D-1845-08	147549802	148545074	42609202	5	4841											
MCC	4163	broad.mit.edu	37	chr5	112824054	112824054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgccgctgccgcCgccgccgccgccgctgctgg	0	6	15	20	7	0	0	0	0	0	0	0	0	0	0	7	1	5	6	7	1	0	0			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:112824054C>T	uc003kql.4	-	0	474	c.58G>A	c.(58-60)Ggc>Agc	p.G20S		NM_001085377	NP_001078846	P23508	CRCM_HUMAN	Homo sapiens mutated in colorectal cancers (MCC), transcript variant 1, mRNA.	548					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity	p.G20S(1)		endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ccgctgccgccgccgccgccg	0.756													T	112824054	C	T	112824054	3	4	74	1	0	0	0	0	1	0	0	0	9448	652	23	1	3138	1	MCC	5	112824054	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08		112824054	68091206	6	4842											
PCDHB7	56129	broad.mit.edu	37	chr5	140554787	140554787	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcgcccatttcagaataatTtgggtttctgataaagaatg	13	14	8	6	1	2	3	1	1	1	2	3	3	2	3	1	1	0	1	1	1	5	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr5:140554787T>G	uc003lit.3	+	0	2545	c.2371T>G	c.(2371-2373)Ttg>Gtg	p.L791V	PCDHB8_uc011dai.2_5'Flank	NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	791					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGAATAATTTGGGTTTCTG	0.423													G	140554787	T	G	140554787	3	3	74	1	0	0	0	0	1	0	0	0	11623	1838	64	5	2373	5	PCDHB7	5	140554787	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	27730733	140554787	40360473	7	4843											
F13A1	2162	broad.mit.edu	37	chr6	6145963	6145963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcccagagacccagggccgGcacacttcttcccactgcac	8	6	9	18	1	1	1	0	0	1	1	2	2	2	1	4	2	2	2	4	2	0	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr6:6145963G>A	uc003mwv.3	-	14	2211	c.2088C>T	c.(2086-2088)tgC>tgT	p.C696C	F13A1_uc011dib.2_Missense_Mutation_p.A590V	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	696					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CCCAGGGCCGGCACACTTCTT	0.547													A	6145963	G	A	6145963	2	1	74	1	0	0	0	0	0	0	0	1	5382	1195	42	2		2	F13A1	6	6145963	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		6145963	164969104	8	4844											
IQCE	23288	broad.mit.edu	37	chr7	2644610	2644610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagccacccagcgtgccAggcctcccagaccaggtaat	10	5	10	16	1	1	2	1	0	0	2	2	2	2	2	6	2	3	1	6	2	1	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:2644610A>G	uc003sml.1	+	18	1912	c.1728A>G	c.(1726-1728)ccA>ccG	p.P576P	IQCE_uc011jvy.1_Silent_p.P560P|IQCE_uc011jvz.1_Silent_p.P511P|IQCE_uc003smo.4_Silent_p.P576P|IQCE_uc003smk.4_Silent_p.P560P|IQCE_uc003smn.4_Silent_p.P511P	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	576										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)		CCAGCGTGCCAGGCCTCCCAG	0.612													G	2644610	A	G	2644610	2	3	74	1	0	0	0	0	0	0	0	1	7864	175	7	3		3	IQCE	7	2644610	Silent	SNP	A	TCGA-06-1806-01A-02D-1845-08		2644610	156494053	9	4845											
CACNA2D1	781	broad.mit.edu	37	chr7	81591237	81591238	+	Missense_Mutation	DNP	CC	CC	AT																															agtttccacagtctaatacaCcactgaatgatttactgtcg																										TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:81591237_81591238CC>AT	uc003uhr.1	-	35	3194_3195	c.2938_2939GG>AT	c.(2938-2940)ggt>ATt	p.G980I	CACNA2D1_uc011kgy.1_Missense_Mutation_p.G192I	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	992						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GTCTAATACACCACTGAATGAT	0.361													AT	81591238	CC	AT	81591237	3	1	74	1	0	0	0	0	1	0	0	0	2574	507	18	4	352	4	CACNA2D1	7	81591237	Missense_Mutation	DNP	CC	TCGA-06-1806-01A-02D-1845-08	78946627	81591237	77547426	10	4846											
NAMPT	10135	broad.mit.edu	37	chr7	105909693	105909693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaacaaatatttggccaaTattttcttctgctctctaga	11	17	4	9	0	4	1	0	0	4	1	5	1	4	1	1	1	2	1	1	1	6	8			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:105909693T>C	uc003vdq.3	-	4	821	c.513A>G	c.(511-513)atA>atG	p.I171M	NAMPT_uc003vdr.1_Missense_Mutation_p.I171M|NAMPT_uc011klu.1_Missense_Mutation_p.I84M	NM_005746	NP_005737	P43490	NAMPT_HUMAN	Homo sapiens nicotinamide phosphoribosyltransferase (NAMPT), mRNA.	171					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						ATTTGGCCAATATTTTCTTCT	0.363													C	105909693	T	C	105909693	3	2	74	1	0	0	0	0	1	0	0	0	10225	1396	49	3	990	3	NAMPT	7	105909693	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	24318456	105909693	53228970	11	4847											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	74	1	0	0	0	0	1	0	0	0	1505	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	34543443	140453136	18685527	12	4848											
SLCO5A1	81796	broad.mit.edu	37	chr8	70585394	70585394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtaccaggccagaaaaaTaaaaataaacccaacgaatt	21	5	7	8	1	0	1	0	0	0	1	0	3	0	2	3	2	3	1	3	2	10	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr8:70585394T>C	uc003xyl.3	-	9	2964	c.2257A>G	c.(2257-2259)Att>Gtt	p.I753V	SLCO5A1_uc010lzb.3_Missense_Mutation_p.I698V|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_3'UTR	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	753						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GCCAGAAAAATAAAAATAAAC	0.488													C	70585394	T	C	70585394	3	2	74	1	0	0	0	0	1	0	0	0	14825	1406	49	3	293	3	SLCO5A1	8	70585394	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		70585394	75778628	13	4849											
QSOX2	169714	broad.mit.edu	37	chr9	139108556	139108556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttcttgactggcggccGtccagggaacagctgcatga	8	8	13	12	2	1	2	0	2	1	0	2	3	2	3	2	3	4	3	2	3	1	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr9:139108556G>A	uc010nbi.2	-	8	1137	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_181701	NP_859052	Q6ZRP7	QSOX2_HUMAN	Homo sapiens quiescin Q6 sulfhydryl oxidase 2 (QSOX2), mRNA.	367					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		ACTGGCGGCCGTCCAGGGAAC	0.642													A	139108556	G	A	139108556	3	1	74	1	0	0	0	0	1	0	0	0	12972	1144	40	1	1013	1	QSOX2	9	139108556	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08		139108556	2104875	14	4850											
SYT13	57586	broad.mit.edu	37	chr11	45273992	45273992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcgctgaagtcttcagctCgccccactgggcagccccta	6	9	9	17	2	2	1	1	1	1	0	4	1	2	1	4	1	2	3	4	1	2	3			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45273992C>T	uc001myq.2	-	3	952	c.826G>A	c.(826-828)Gag>Aag	p.E276K	SYT13_uc009yku.1_Missense_Mutation_p.E132K	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	276						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GTCTTCAGCTCGCCCCACTGG	0.632											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45273992	C	T	45273992	3	4	74	1	0	0	0	0	1	0	0	0	15566	893	31	1	466	1	SYT13	11	45273992	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08		45273992	89732524	15	4851											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45927211	45927211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctaggagagcattccAgcagttctacaagcagtttg	10	11	11	9	0	2	1	0	0	2	1	3	2	3	1	1	2	4	6	1	2	3	6			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:45927211A>G	uc001nbr.3	+	11	2400	c.2075A>G	c.(2074-2076)cAg>cGg	p.Q692R		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	692	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		AGAGCATTCCAGCAGTTCTAC	0.597													G	45927211	A	G	45927211	3	3	74	1	0	0	0	0	1	0	0	0	9359	188	7	3	2121	3	MAPK8IP1	11	45927211	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	653219	45927211	89079305	16	4852											
PTPRJ	5795	broad.mit.edu	37	chr11	48185118	48185118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaacttccggtacctcgttCgtgactacatgaagcagagt	10	11	9	11	3	1	3	1	2	0	1	4	3	2	3	2	1	4	3	2	1	4	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:48185118C>T	uc001ngp.4	+	22	4022	c.3667C>T	c.(3667-3669)Cgt>Tgt	p.R1223C		NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	1223	Tyrosine-protein phosphatase.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTACCTCGTTCGTGACTACAT	0.517													T	48185118	C	T	48185118	3	4	74	1	0	0	0	0	1	0	0	0	12892	884	31	1	3766	1	PTPRJ	11	48185118	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	2257907	48185118	86821398	17	4853											
ZNF202	7753	broad.mit.edu	37	chr11	123597645	123597645	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcctgtgtatatccTccaaactcagatcttcctgc	11	11	6	13	0	2	1	1	0	1	1	5	1	5	1	4	1	3	1	4	1	4	3			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:123597645T>C	uc001pzd.1	-	8	1407	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	ZNF202_uc001pzc.1_Missense_Mutation_p.E112G|ZNF202_uc001pze.1_Missense_Mutation_p.E336G|ZNF202_uc001pzf.1_Missense_Mutation_p.E336G	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	336					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		GTGTATATCCTCCAAACTCAG	0.453													C	123597645	T	C	123597645	3	2	74	1	0	0	0	0	1	0	0	0	17864	1551	54	3	943	3	ZNF202	11	123597645	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	75412527	123597645	11408871	18	4854											
B3GAT1	27087	broad.mit.edu	37	chr11	134253884	134253884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcagcgtgttggccatgCgcgtcagctcggccttctgc	4	9	14	14	4	2	0	1	0	1	0	3	0	2	0	2	2	5	4	2	2	0	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr11:134253884C>T	uc001qhq.3	-	3	572	c.311G>A	c.(310-312)cGc>cAc	p.R104H	B3GAT1_uc001qhr.3_Missense_Mutation_p.R104H|B3GAT1_uc010scv.1_Missense_Mutation_p.R117H	NM_018644	NP_473366	Q9P2W7	B3GA1_HUMAN	Homo sapiens beta-1,3-glucuronyltransferase 1 (glucuronosyltransferase P) (B3GAT1), transcript variant 1, mRNA.	104					carbohydrate metabolic process	Golgi membrane|integral to membrane	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity|metal ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.127)	all_cancers(12;1.39e-23)|all_epithelial(12;7.17e-17)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|Medulloblastoma(222;0.0125)|all_neural(223;0.0137)|Esophageal squamous(93;0.0559)		Epithelial(10;2.58e-11)|all cancers(11;5.75e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.000879)|Lung(977;0.0864)		GTTGGCCATGCGCGTCAGCTC	0.716													T	134253884	C	T	134253884	3	4	74	1	0	0	0	0	1	0	0	0	1258	768	27	1	705	1	B3GAT1	11	134253884	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	10656239	134253884	752632	19	4855											
PDZRN4	29951	broad.mit.edu	37	chr12	41967365	41967365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtggcatgaccacagaCgatgacaccatgagcgagat	13	5	13	10	3	0	5	0	3	0	2	0	8	0	6	2	2	1	1	2	2	0	0			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:41967365C>T	uc010skn.2	+	9	2792	c.2784C>T	c.(2782-2784)gaC>gaT	p.D928D	PDZRN4_uc001rmq.4_Silent_p.D670D|PDZRN4_uc009zjz.3_Silent_p.D668D|PDZRN4_uc001rmr.3_Silent_p.D555D	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	928							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TGACCACAGACGATGACACCA	0.562													T	41967365	C	T	41967365	2	4	74	1	0	0	0	0	0	0	0	1	11786	535	19	1		1	PDZRN4	12	41967365	Silent	SNP	C	TCGA-06-1806-01A-02D-1845-08		41967365	91884530	20	4856											
LRRIQ1	84125	broad.mit.edu	37	chr12	85459127	85459127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttctatcccttcgaCgctgtggattaacttctttg	6	18	7	10	2	3	0	1	0	2	0	5	2	4	1	1	1	1	2	1	1	2	7			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:85459127C>T	uc001tac.3	+	8	2590	c.2479C>T	c.(2479-2481)Cgc>Tgc	p.R827C	LRRIQ1_uc021rbo.1_Missense_Mutation_p.R705C	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	827										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCCCTTCGACGCTGTGGATT	0.393													T	85459127	C	T	85459127	3	4	74	1	0	0	0	0	1	0	0	0	9099	536	19	1	2509	1	LRRIQ1	12	85459127	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	43491762	85459127	48392768	21	4857											
LUM	4060	broad.mit.edu	37	chr12	91502172	91502172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagaaggcagtctggctatCtgattgaagctcaagtcaag	12	9	11	9	0	4	3	2	2	2	1	4	3	4	3	1	2	1	3	1	2	5	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr12:91502172C>G	uc001tbm.3	-	1	974	c.585G>C	c.(583-585)caG>caC	p.Q195H		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	195					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GTCTGGCTATCTGATTGAAGC	0.428													G	91502172	C	G	91502172	3	3	74	1	0	0	0	0	1	0	0	0	9155	912	32	4	439	4	LUM	12	91502172	Missense_Mutation	SNP	C	TCGA-06-1806-01A-02D-1845-08	6043045	91502172	42349723	22	4858											
AKAP13	11214	broad.mit.edu	37	chr15	86286791	86286791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgaggagcccccctcGccatctgcaccttccatagc	7	8	8	18	1	1	1	0	1	1	0	4	2	3	2	7	1	3	1	7	1	1	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr15:86286791G>A	uc002blv.1	+	35	8297	c.8127G>A	c.(8125-8127)tcG>tcA	p.S2709S	AKAP13_uc002blu.1_Silent_p.S2713S|AKAP13_uc002blw.1_Silent_p.S1174S|AKAP13_uc002blx.1_Silent_p.S954S	NM_007200	NP_009131	Q12802	AKP13_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 13 (AKAP13), transcript variant 2, mRNA.	2709	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity	p.S2713S(1)		NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGCCCCCCTCGCCATCTGCAC	0.502													A	86286791	G	A	86286791	2	1	74	1	0	0	0	0	0	0	0	1	449	1074	38	1		1	AKAP13	15	86286791	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		86286791	16244601	23	4859											
MLST8	64223	broad.mit.edu	37	chr16	2256651	2256651	+	Frame_Shift_Del	DEL	G	G	-																															ggactgcacagccaggatctGggacctcaggtgcggtgggg																										TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr16:2256651delG	uc002coy.3	+	3	726	c.335delG	c.(334-336)tggfs	p.W112fs	MLST8_uc002cpc.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvx.2_Frame_Shift_Del_p.W46fs|MLST8_uc002cpd.3_Frame_Shift_Del_p.W46fs|MLST8_uc002cpb.3_Frame_Shift_Del_p.W111fs|MLST8_uc002coz.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cpe.3_Frame_Shift_Del_p.W112fs|MLST8_uc010uvy.2_Frame_Shift_Del_p.W112fs|MLST8_uc002cpf.3_Frame_Shift_Del_p.W112fs|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	112					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						GCCAGGATCTGGGACCTCAGG	0.642													-	2256651	G	-	2256651	7	5	74	1	0	1	0	1	0	0	0	0	9709	1357	47	0	345	0	MLST8	16	2256651	Frame_Shift_Del	DEL	G	TCGA-06-1806-01A-02D-1845-08		2256651	88098102	24	4860											
ATP9B	374868	broad.mit.edu	37	chr18	77133909	77133909	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcaggcggcatcctcAtgtatggggccctggtgctc	4	13	13	11	1	2	0	2	0	0	0	4	0	3	0	2	5	1	4	2	5	1	3			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr18:77133909A>T	uc002lmx.3	+	27	3096	c.3082A>T	c.(3082-3084)Atg>Ttg	p.M1028L	ATP9B_uc002lmw.1_Missense_Mutation_p.M1028L|ATP9B_uc002lna.3_Missense_Mutation_p.M54L|ATP9B_uc002lnb.1_Missense_Mutation_p.H126L|ATP9B_uc010drb.3_Non-coding_Transcript	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	1028					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		CGGCATCCTCATGTATGGGGC	0.567													T	77133909	A	T	77133909	3	4	74	1	0	0	0	0	1	0	0	0	1204	217	8	5	3192	5	ATP9B	18	77133909	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08		77133909	943339	25	4861											
DOT1L	84444	broad.mit.edu	37	chr19	2216705	2216705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaagattgtgctgaggcgGcacctgagccaggaccacac	10	5	13	13	1	0	3	0	2	0	1	0	4	0	4	4	3	2	2	4	3	1	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:2216705G>A	uc002lvc.1	+	5	998	c.231G>A	c.(229-231)cgG>cgA	p.R77R	DOT1L_uc002lvb.4_Silent_p.R783R|AX746733_uc002lvd.1_5'Flank|DOT1L_uc002lve.1_Silent_p.R77R	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	783						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		TGCTGAGGCGGCACCTGAGCC	0.687													A	2216705	G	A	2216705	2	1	74	1	0	0	0	0	0	0	0	1	4748	1190	42	2		2	DOT1L	19	2216705	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08		2216705	56912278	26	4862											
FUT5	2527	broad.mit.edu	37	chr19	5867010	5867010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccatcatggtccccttggGcaggggcttgtgggagcgtc	4	10	15	12	1	1	0	1	0	0	0	4	1	3	1	3	5	1	2	3	5	0	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:5867010G>C	uc002mdo.4	-	1	898	c.727C>G	c.(727-729)Ccc>Gcc	p.P243A	FUT5_uc010duo.3_Missense_Mutation_p.P243A|FUT5_uc021uno.1_Missense_Mutation_p.P243A	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	243					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						GTCCCCTTGGGCAGGGGCTTG	0.602													C	5867010	G	C	5867010	3	2	74	1	0	0	0	0	1	0	0	0	6159	1203	42	4	401	4	FUT5	19	5867010	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08	3650305	5867010	53261973	27	4863											
NOSIP	51070	broad.mit.edu	37	chr19	50059597	50059597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcacgatgatgtcgcGgtctgtgagtttgtctccag	6	12	13	10	3	2	2	0	2	2	0	4	3	2	2	1	1	2	3	1	1	0	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr19:50059597G>A	uc002pok.3	-	8	963	c.811C>T	c.(811-813)Cgc>Tgc	p.R271C	NOSIP_uc002pol.3_Missense_Mutation_p.R271C	NM_015953	NP_057037	Q9Y314	NOSIP_HUMAN	Homo sapiens nitric oxide synthase interacting protein (NOSIP), mRNA.	271					negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		ATGATGTCGCGGTCTGTGAGT	0.632													A	50059597	G	A	50059597	3	1	74	1	0	0	0	0	1	0	0	0	10621	1116	39	1	102	1	NOSIP	19	50059597	Missense_Mutation	SNP	G	TCGA-06-1806-01A-02D-1845-08	44192587	50059597	9069386	28	4864											
ADAM33	80332	broad.mit.edu	37	chr20	3652076	3652076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctcaccccgtggctgTggcaggcagtcaggcagcgc	5	6	16	14	2	2	0	2	0	1	0	3	0	2	0	2	5	1	5	2	5	0	0			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:3652076T>C	uc002wit.3	-	16	2060	c.1973A>G	c.(1972-1974)cAc>cGc	p.H658R	ADAM33_uc002wiq.1_5'Flank|ADAM33_uc002wir.1_Missense_Mutation_p.H658R|ADAM33_uc002wis.3_Intron|ADAM33_uc002wiu.3_Intron|AX748440_uc002wiv.1_5'Flank|ADAM33_uc002wiw.1_Non-coding_Transcript|ADAM33_uc010gba.1_Intron	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	658	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CCCGTGGCTGTGGCAGGCAGT	0.612													C	3652076	T	C	3652076	3	2	74	1	0	0	0	0	1	0	0	0	250	1696	59	3	492	3	ADAM33	20	3652076	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		3652076	59373444	29	4865											
CSRP2BP	57325	broad.mit.edu	37	chr20	18165284	18165284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagtacccagacttcAgtgttgttgttctttataaa	9	16	8	8	0	3	1	1	0	2	1	3	1	3	1	1	0	2	5	1	0	4	8			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:18165284A>C	uc021wbb.1	+	8	2460	c.2023A>C	c.(2023-2025)Agt>Cgt	p.S675R	CSRP2BP_uc002wqk.3_Missense_Mutation_p.S547R|CSRP2BP_uc010zru.2_Missense_Mutation_p.S546R	NM_020536	NP_065397	Q9H8E8	CSR2B_HUMAN	Homo sapiens CSRP2 binding protein (CSRP2BP), transcript variant 1, mRNA.	675	N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CCCAGACTTCAGTGTTGTTGT	0.408													C	18165284	A	C	18165284	3	2	74	1	0	0	0	0	1	0	0	0	4001	188	7	5	2057	5	CSRP2BP	20	18165284	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08	14513208	18165284	44860236	30	4866											
SEMG2	6407	broad.mit.edu	37	chr20	43851863	43851863	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaagtctggtcaatcTgcagatagcaaacaagacct	17	7	9	8	0	3	2	1	0	2	2	3	3	3	3	1	2	3	2	1	2	6	1			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:43851863T>A	uc010ggz.3	+	1	1647	c.1590T>A	c.(1588-1590)tcT>tcA	p.S530S	SEMG2_uc002xnk.3_Silent_p.S530S|SEMG2_uc002xnl.3_Silent_p.S410S	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	530	Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CTGGTCAATCTGCAGATAGCA	0.388													A	43851863	T	A	43851863	2	1	74	1	0	0	0	0	0	0	0	1	14138	1567	55	5		5	SEMG2	20	43851863	Silent	SNP	T	TCGA-06-1806-01A-02D-1845-08	25686579	43851863	19173657	31	4867											
ARFGAP1	55738	broad.mit.edu	37	chr20	61910293	61910293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgggaacacgccaccGcctcagaagaaagaagatga	14	5	13	9	2	1	5	1	1	0	4	1	6	1	6	3	2	1	1	3	2	4	1	rs143521520	byFrequency	TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr20:61910293G>A	uc002yem.3	+	6	685	c.573G>A	c.(571-573)ccG>ccA	p.P191P	ARFGAP1_uc011aas.1_Silent_p.P138P|ARFGAP1_uc011aat.1_Silent_p.P78P|ARFGAP1_uc002yel.3_Silent_p.P191P|ARFGAP1_uc002yen.3_Silent_p.P191P	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	191					COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					ACACGCCACCGCCTCAGAAGA	0.597													A	61910293	G	A	61910293	2	1	74	1	0	0	0	0	0	0	0	1	852	1074	38	1		1	ARFGAP1	20	61910293	Silent	SNP	G	TCGA-06-1806-01A-02D-1845-08	18058430	61910293	1115227	32	4868											
IFNGR2	3460	broad.mit.edu	37	chr21	34809223	34809223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactctgtgtccattaTctcgtttccggaaaaggagc	8	12	11	10	2	2	0	0	0	2	0	5	3	4	3	2	3	1	1	2	3	3	2			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr21:34809223T>C	uc002yrp.4	+	6	1616	c.968T>C	c.(967-969)aTc>aCc	p.I323T	TMEM50B_uc002yrs.2_Intron	NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	323					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	GTGTCCATTATCTCGTTTCCG	0.502													C	34809223	T	C	34809223	3	2	74	1	0	0	0	0	1	0	0	0	7608	1435	50	3	994	3	IFNGR2	21	34809223	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		34809223	13320672	33	4869											
SRRD	402055	broad.mit.edu	37	chr22	26887547	26887547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacagctctccatagataTttgggagtttcgggaagaac	13	10	11	7	1	1	3	0	0	1	3	3	5	1	5	1	2	3	2	1	2	5	4			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chr22:26887547T>C	uc010gve.3	+	6	936	c.929T>C	c.(928-930)aTt>aCt	p.I310T	SRRD_uc003acp.4_Missense_Mutation_p.I303T	NM_001013694	NP_001013716	Q9UH36	SRR1L_HUMAN	Homo sapiens SRR1 domain containing (SRRD), mRNA.	310					rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						TCCATAGATATTTGGGAGTTT	0.433													C	26887547	T	C	26887547	3	2	74	1	0	0	0	0	1	0	0	0	15263	1493	52	3	955	3	SRRD	22	26887547	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08		26887547	24417019	34	4870											
NHS	4810	broad.mit.edu	37	chrX	17745854	17745854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcttctgcagttgagAtgggaccagataaactacat	13	11	9	8	0	2	3	0	1	2	3	2	5	2	4	1	1	3	2	1	1	4	5			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:17745854A>G	uc011mix.2	+	6	3966	c.3628A>G	c.(3628-3630)Atg>Gtg	p.M1210V	NHS_uc004cxx.3_Missense_Mutation_p.M1189V|NHS_uc004cxy.3_Missense_Mutation_p.M1033V|NHS_uc004cxz.3_Missense_Mutation_p.M1012V|NHS_uc004cya.3_Missense_Mutation_p.M912V	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1189						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TGCAGTTGAGATGGGACCAGA	0.398													G	17745854	A	G	17745854	3	3	74	1	0	0	0	0	1	0	0	0	10487	333	12	3	3692	3	NHS	23	17745854	Missense_Mutation	SNP	A	TCGA-06-1806-01A-02D-1845-08		17745854	137524706	35	4871											
PGAM4	441531	broad.mit.edu	37	chrX	77224407	77224407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgggcagccacagcttcTatggctttgcacaccgtctc	6	10	9	16	1	2	0	0	0	2	0	3	0	2	0	3	2	3	4	3	2	1	3			TCGA-06-1806-01A-02D-1845-08	TCGA-06-1806-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	beb40d7c-3861-4efe-9b1d-34ba68a66c9d	0cb9ab6d-0c9e-459b-af28-7f2e3b870ca5	g.chrX:77224407T>C	uc004ecy.1	-	0	729	c.729A>G	c.(727-729)atA>atG	p.I243M	ATP7A_uc004ecw.2_Intron|ATP7A_uc004ecx.4_Intron	NM_001029891	NP_001025062	Q8N0Y7	PGAM4_HUMAN	Homo sapiens phosphoglycerate mutase family member 4 (PGAM4), mRNA.	243					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						CCACAGCTTCTATGGCTTTGC	0.567													C	77224407	T	C	77224407	3	2	74	1	0	0	0	0	1	0	0	0	11852	1512	53	3	39	3	PGAM4	23	77224407	Missense_Mutation	SNP	T	TCGA-06-1806-01A-02D-1845-08	59478553	77224407	78046153	36	4872											
ATP13A2	23400	broad.mit.edu	37	chr1	17314833	17314833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgatgaccatgggcaCgcactcaatactggccatgc	10	9	9	13	1	1	2	1	2	0	0	1	2	1	2	3	2	3	2	3	2	3	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:17314833C>T	uc001baa.2	-	23	2936	c.2746G>A	c.(2746-2748)Gtg>Atg	p.V916M	ATP13A2_uc001bac.2_Missense_Mutation_p.V872M|ATP13A2_uc001bab.2_Missense_Mutation_p.V911M	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	916					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		ACCATGGGCACGCACTCAATA	0.642													T	17314833	C	T	17314833	3	4	75	1	0	0	0	0	1	0	0	0	1129	536	19	1	1056	1	ATP13A2	1	17314833	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		17314833	231935788	1	4873											
CNKSR1	10256	broad.mit.edu	37	chr1	26507077	26507077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggagctcatcctgggCggggtggaacagctccaggc	8	5	15	13	1	1	0	1	0	0	0	3	2	3	2	3	6	3	2	3	6	1	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:26507077C>T	uc001bln.4	+	1	244	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	62	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													T	26507077	C	T	26507077	2	4	75	1	0	0	0	0	0	0	0	1	3637	755	27	1		1	CNKSR1	1	26507077	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	9192244	26507077	222743544	2	4874											
GJB4	127534	broad.mit.edu	37	chr1	35227182	35227182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagcaccacctgaaacaCgggcccaatgccccgtccct	10	4	8	19	3	0	1	0	1	0	0	1	1	1	1	6	1	3	2	6	1	3	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:35227182C>T	uc001bxw.4	+	0	327	c.327C>T	c.(325-327)caC>caT	p.H109H	GJB4_uc001bxv.1_Silent_p.H109H	NM_153212	NP_694944	Q9NTQ9	CXB4_HUMAN	Homo sapiens gap junction protein, beta 4, 30.3kDa (GJB4), mRNA.	109					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ACCTGAAACACGGGCCCAATG	0.632													T	35227182	C	T	35227182	2	4	75	1	0	0	0	0	0	0	0	1	6466	535	19	1		1	GJB4	1	35227182	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	8720105	35227182	214023439	3	4875											
MYSM1	114803	broad.mit.edu	37	chr1	59132729	59132729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtatttagcttgtgtgTcaatatctcgtaaggaagga	10	14	11	6	1	2	0	1	0	1	0	3	2	2	2	1	3	1	3	1	3	6	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:59132729T>C	uc009wab.2	-	15	2035	c.2012A>G	c.(2011-2013)gAc>gGc	p.D671G	MYSM1_uc001cza.3_Missense_Mutation_p.D77G|MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	671	MPN.				histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					AGCTTGTGTGTCAATATCTCG	0.373													C	59132729	T	C	59132729	3	2	75	1	0	0	0	0	1	0	0	0	10177	1667	58	3	494	3	MYSM1	1	59132729	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	23905547	59132729	190117892	4	4876											
LRRC7	57554	broad.mit.edu	37	chr1	70505050	70505050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccccaactgataggtaCggcagacccccatatagggg	10	6	11	14	1	0	2	0	1	0	1	0	2	0	2	4	4	3	2	4	4	5	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:70505050C>T	uc001dep.3	+	18	3459	c.3429C>T	c.(3427-3429)taC>taT	p.Y1143Y	LRRC7_uc009wbg.3_Silent_p.Y427Y|LRRC7_uc001deq.3_Silent_p.Y384Y	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1143						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTGATAGGTACGGCAGACCCC	0.557													T	70505050	C	T	70505050	2	4	75	1	0	0	0	0	0	0	0	1	9090	547	19	1		1	LRRC7	1	70505050	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	11372321	70505050	178745571	5	4877											
TTF2	8458	broad.mit.edu	37	chr1	117603105	117603105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctttcttaagaccggcgtCcgcgatggcccgaataaagg	9	9	12	11	5	1	1	0	0	1	1	2	3	2	1	3	3	1	1	3	3	4	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:117603105C>T	uc001egy.3	+	1	77	c.57C>T	c.(55-57)gtC>gtT	p.V19V	TTF2_uc001egx.1_Silent_p.V19V	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	19					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		AGACCGGCGTCCGCGATGGCC	0.582													T	117603105	C	T	117603105	2	4	75	1	0	0	0	0	0	0	0	1	16821	842	30	2		2	TTF2	1	117603105	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	47098055	117603105	131647516	6	4878											
AQP10	89872	broad.mit.edu	37	chr1	154294516	154294516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttacgatagccatctaCgtgggtggtaacgtctcagg	8	10	13	10	4	2	0	1	0	2	0	3	1	2	0	2	3	4	2	2	3	4	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:154294516C>T	uc001feu.3	+	1	253	c.213C>T	c.(211-213)taC>taT	p.Y71Y		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	71					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGCCATCTACGTGGGTGGTA	0.557													T	154294516	C	T	154294516	2	4	75	1	0	0	0	0	0	0	0	1	825	547	19	1		1	AQP10	1	154294516	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	36691411	154294516	94956105	7	4879											
PIK3C2B	5287	broad.mit.edu	37	chr1	204410639	204410639	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcacccaggggatccacaTtttggaaggagagtttgagg	10	10	13	8	0	1	2	1	1	1	1	3	5	2	4	2	5	0	1	2	5	1	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:204410639T>G	uc001haw.3	-	21	3688	c.3209A>C	c.(3208-3210)aAt>aCt	p.N1070T	PIK3C2B_uc010pqv.2_Missense_Mutation_p.N1042T	NM_002646	NP_002637	O00750	P3C2B_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, beta polypeptide (PIK3C2B), mRNA.	1070					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GGGATCCACATTTTGGAAGGA	0.527													G	204410639	T	G	204410639	3	3	75	1	0	0	0	0	1	0	0	0	11987	1493	52	5	1747	5	PIK3C2B	1	204410639	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	50116123	204410639	44839982	8	4880											
CHRM3	1131	broad.mit.edu	37	chr1	240071079	240071079	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactacttcctcttaagcCtggcctgtgccgatctgatt	8	13	7	13	1	2	1	0	1	2	0	3	2	3	1	4	1	4	0	4	1	3	4	rs111407169	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr1:240071079C>T	uc021plc.1	+	0	328	c.328C>T	c.(328-330)Ctg>Ttg	p.L110L	CHRM3_uc001hyp.3_Silent_p.L110L	NM_000740	NP_000731	P20309	ACM3_HUMAN	Homo sapiens cholinergic receptor, muscarinic 3 (CHRM3), mRNA.	110					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	CCTCTTAAGCCTGGCCTGTGC	0.478													T	240071079	C	T	240071079	2	4	75	1	0	0	0	0	0	0	0	1	3408	680	24	2		2	CHRM3	1	240071079	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	35660440	240071079	9179542	9	4881											
FAM136A	84908	broad.mit.edu	37	chr2	70524463	70524463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctccttcatcttcttggtCatagttgggatgaggtgcat	6	15	11	9	0	4	1	2	1	2	0	5	2	5	2	2	3	1	2	2	3	1	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:70524463C>T	uc002sgq.4	-	2	452	c.375G>A	c.(373-375)atG>atA	p.M125I	FAM136A_uc010fdp.3_Non-coding_Transcript	NM_032822	NP_116211	Q96C01	F136A_HUMAN	Homo sapiens family with sequence similarity 136, member A (FAM136A), mRNA.	125						mitochondrion	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						TCTTCTTGGTCATAGTTGGGA	0.433													T	70524463	C	T	70524463	3	4	75	1	0	0	0	0	1	0	0	0	5495	826	29	2	45	2	FAM136A	2	70524463	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		70524463	172674910	10	4882											
NAT8B	51471	broad.mit.edu	37	chr2	73928290	73928290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtagggcaagggcccccCcaagtaagagtatgagggtt	11	6	16	8	0	0	2	0	1	0	1	0	3	0	3	3	4	0	5	3	4	5	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:73928290C>T	uc002sjk.1	-	1	175	c.140G>A	c.(139-141)gGg>gAg	p.G47E		NM_016347	NP_057431	Q9UHF3	NAT8B_HUMAN	Homo sapiens N-acetyltransferase 8B (GCN5-related, putative, gene/pseudogene) (NAT8B), mRNA.	48					gastrulation with mouth forming second	integral to membrane	N-acetyltransferase activity										AAGGGCCCCCCCAAGTAAGAG	0.612													T	73928290	C	T	73928290	3	4	75	1	0	0	0	0	1	0	0	0	10256	623	22	2	544	2	NAT8B	2	73928290	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	3403827	73928290	169271083	11	4883											
CCDC138	165055	broad.mit.edu	37	chr2	109410997	109410997	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttattttctttgcagtTgccttgccaactaatacgac	10	16	6	9	1	1	0	0	0	1	0	1	1	1	0	2	0	5	3	2	0	5	8			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:109410997T>C	uc002ten.1	+	5	455	c.395_splice	c.e5-1	p.V132_splice	CCDC138_uc002teo.1_Splice_Site_p.V132_splice|CCDC138_uc002tep.1_Splice_Site|CCDC138_uc010fjm.1_Splice_Site	NM_144978	NP_659415	Q96M89	CC138_HUMAN	Homo sapiens coiled-coil domain containing 138 (CCDC138), mRNA.	132										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						TCTTTGCAGTTGCCTTGCCAA	0.363													C	109410997	T	C	109410997	2	2	75	1	0	0	0	0	0	0	0	1	2798	1826	63	3		3	CCDC138	2	109410997	Silent	SNP	T	TCGA-06-2557-01A-01D-1494-08	35482707	109410997	133788376	12	4884											
POTEF	728378	broad.mit.edu	37	chr2	130877735	130877735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtagtctccccaagcGcccaccttgctcttgctgct	5	12	7	17	2	3	0	1	0	2	0	5	0	3	0	4	0	4	4	4	0	2	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:130877735G>A	uc010fmh.2	-	2	754	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	118						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						CTCCCCAAGCGCCCACCTTGC	0.587													A	130877735	G	A	130877735	2	1	75	1	0	0	0	0	0	0	0	1	12342	1074	38	1		1	POTEF	2	130877735	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	21466738	130877735	112321638	13	4885											
LRP1B	53353	broad.mit.edu	37	chr2	141986959	141986959	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattaagatagaaaacctCaattgtttcaaaatttgcaa	17	13	4	7	0	2	2	2	0	0	2	3	2	3	2	2	0	2	2	2	0	8	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:141986959C>A	uc002tvj.1	-	5	1615	c.643G>T	c.(643-645)Gag>Tag	p.E215*	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	215					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TAGAAAACCTCAATTGTTTCA	0.284										TSP Lung(27;0.18)			A	141986959	C	A	141986959	4	1	75	1	0	0	0	0	0	1	0	0	9025	835	29	4	13500	4	LRP1B	2	141986959	Nonsense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	11109224	141986959	101212414	14	4886											
PLCL1	5334	broad.mit.edu	37	chr2	198949321	198949321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagacatcataaggagataCgaactttctgaagagggacg	15	9	11	6	2	2	4	1	1	1	3	2	7	2	5	0	2	2	0	0	2	5	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr2:198949321C>T	uc010fsp.3	+	1	1478	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y	PLCL1_uc002uuv.4_Silent_p.Y281Y	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	360					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TAAGGAGATACGAACTTTCTG	0.388													T	198949321	C	T	198949321	2	4	75	1	0	0	0	0	0	0	0	1	12116	547	19	1		1	PLCL1	2	198949321	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	56962362	198949321	44250052	15	4887											
SCN5A	6331	broad.mit.edu	37	chr3	38622444	38622444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgctggactcctcctccGtgcccaggctgttctcctca	3	12	9	17	1	2	0	1	0	1	0	6	1	5	1	5	2	2	4	5	2	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:38622444G>A	uc021wvo.1	-	15	3258	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	SCN5A_uc021wvk.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvl.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvm.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvn.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvp.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvq.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvr.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvs.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvt.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvu.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvv.1_Missense_Mutation_p.T1069M|SCN5A_uc021wvj.1_Missense_Mutation_p.T935M|SCN5A_uc021wvi.1_Missense_Mutation_p.T935M|SCN5A_uc021wvw.1_Missense_Mutation_p.T680M	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1069					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.G1068V(2)|p.T1069T(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTCCTCCTCCGTGCCCAGGCT	0.627													A	38622444	G	A	38622444	3	1	75	1	0	0	0	0	1	0	0	0	14015	1145	40	1	2892	1	SCN5A	3	38622444	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		38622444	159399986	16	4888											
ABI3BP	25890	broad.mit.edu	37	chr3	100645260	100645260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacatttggacttggacGcaagaacttcaagaggatgg	12	11	11	7	1	1	2	1	0	0	2	1	5	1	5	0	4	2	1	0	4	4	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:100645260G>A	uc003dun.3	-	1	251	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C	ABI3BP_uc003duo.2_Missense_Mutation_p.R49C|ABI3BP_uc003dup.4_Missense_Mutation_p.R49C	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	56						extracellular space		p.R56H(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GGACTTGGACGCAAGAACTTC	0.448													A	100645260	G	A	100645260	3	1	75	1	0	0	0	0	1	0	0	0	91	1087	38	1	3197	1	ABI3BP	3	100645260	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	62022816	100645260	97377170	17	4889											
ZPLD1	131368	broad.mit.edu	37	chr3	102157373	102157373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctaacaattagagtGcttccggggtctgctcagtt	7	14	10	10	1	3	1	1	0	2	1	4	1	4	1	1	2	4	4	1	2	3	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:102157373G>A	uc003dvt.1	+	1	190	c.90G>A	c.(88-90)gtG>gtA	p.V30V	ZPLD1_uc003dvs.1_Silent_p.V14V|ZPLD1_uc011bhg.1_Silent_p.V14V	NM_175056	NP_778226	Q8TCW7	ZPLD1_HUMAN	Homo sapiens zona pellucida-like domain containing 1 (ZPLD1), mRNA.	14						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						CAATTAGAGTGCTTCCGGGGT	0.433													A	102157373	G	A	102157373	2	1	75	1	0	0	0	0	0	0	0	1	18320	1306	46	2		2	ZPLD1	3	102157373	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	1512113	102157373	95865057	18	4890											
CCDC37	348807	broad.mit.edu	37	chr3	126153142	126153142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattgagcaccagctggatGagctgctagagaacctggag	11	8	13	9	0	1	3	1	2	0	1	1	6	1	5	2	2	5	4	2	2	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:126153142G>A	uc010hsg.1	+	13	1608	c.1549G>A	c.(1549-1551)Gag>Aag	p.E517K	CCDC37_uc003eiu.1_Missense_Mutation_p.E516K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	516										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		CCAGCTGGATGAGCTGCTAGA	0.622													A	126153142	G	A	126153142	3	1	75	1	0	0	0	0	1	0	0	0	2836	1291	45	2	1600	2	CCDC37	3	126153142	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	23995769	126153142	71869288	19	4891											
B3GALNT1	8706	broad.mit.edu	37	chr3	160804500	160804500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatttgagggatctcaGtgacatcctactcggaagga	10	10	11	10	1	1	2	1	2	1	0	5	5	3	5	2	3	1	1	2	3	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr3:160804500G>C	uc003fdv.3	-	4	462	c.43C>G	c.(43-45)Ctg>Gtg	p.L15V	B3GALNT1_uc003fdw.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L15V|B3GALNT1_uc003fea.3_Missense_Mutation_p.L15V|B3GALNT1_uc011bpa.2_Missense_Mutation_p.L15V|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L15V	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	15					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			AGGGATCTCAGTGACATCCTA	0.527													C	160804500	G	C	160804500	3	2	75	1	0	0	0	0	1	0	0	0	1250	1020	36	4	956	4	B3GALNT1	3	160804500	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	34651358	160804500	37217930	20	4892											
ZNF391	346157	broad.mit.edu	37	chr6	27368167	27368167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaatggaaagcctcagaggGaatactgctcagggtcctac	12	7	12	10	0	2	1	2	0	0	1	3	3	3	3	2	3	4	2	2	3	5	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:27368167G>A	uc003njf.1	+	2	536	c.18G>A	c.(16-18)ggG>ggA	p.G6G	ZNF391_uc021ypw.1_Silent_p.G6G	NM_001076781	NP_001070249	Q9UJN7	ZN391_HUMAN	Homo sapiens zinc finger protein 391 (ZNF391), mRNA.	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						GCCTCAGAGGGAATACTGCTC	0.423													A	27368167	G	A	27368167	2	1	75	1	0	0	0	0	0	0	0	1	17980	1161	41	2		2	ZNF391	6	27368167	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		27368167	143746900	21	4893											
CCHCR1	54535	broad.mit.edu	37	chr6	31124628	31124628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctgggggttggaccAggggaatgtctgagagccag	8	7	19	7	0	1	1	0	1	1	1	1	5	1	3	3	6	1	1	3	6	1	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:31124628A>G	uc003nsp.4	-	2	566	c.377T>C	c.(376-378)cTg>cCg	p.L126P	CCHCR1_uc011dne.2_Missense_Mutation_p.L37P|CCHCR1_uc003nsq.4_Intron|CCHCR1_uc003nsr.4_Missense_Mutation_p.L37P|CCHCR1_uc010jsk.1_Missense_Mutation_p.L37P|TCF19_uc003nss.3_5'Flank|TCF19_uc003nst.3_5'Flank	NM_001105564	NP_061925	Q8TD31	CCHCR_HUMAN	Homo sapiens coiled-coil alpha-helical rod protein 1 (CCHCR1), transcript variant 1, mRNA.	37					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						GGGTTGGACCAGGGGAATGTC	0.577													G	31124628	A	G	31124628	3	3	75	1	0	0	0	0	1	0	0	0	2905	188	7	3	2302	3	CCHCR1	6	31124628	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	3756461	31124628	139990439	22	4894											
TREML2	79865	broad.mit.edu	37	chr6	41166083	41166083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgccctccacgcggtttTtgtagcccttataggagcac	6	12	9	14	2	0	0	0	0	0	0	1	1	1	1	4	2	3	3	4	2	3	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:41166083T>C	uc010jxm.1	-	1	319	c.140A>G	c.(139-141)aAa>aGa	p.K47R		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	47	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity	p.W47L(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACGCGGTTTTTGTAGCCCTT	0.537													C	41166083	T	C	41166083	3	2	75	1	0	0	0	0	1	0	0	0	16574	1841	64	3	841	3	TREML2	6	41166083	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	10041455	41166083	129948984	23	4895											
SGK1	6446	broad.mit.edu	37	chr6	134493394	134493394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttctccttgcagagtccGaagtcagtaaggacaatgtg	11	11	11	8	1	2	1	1	0	1	1	4	3	3	2	2	1	1	3	2	1	3	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr6:134493394G>A	uc003qen.4	-	7	812	c.723C>T	c.(721-723)ttC>ttT	p.F241F	SGK1_uc003qeo.4_Silent_p.F336F|SGK1_uc011ect.2_Silent_p.F231F|SGK1_uc011ecu.2_Silent_p.F197F|SGK1_uc011ecv.2_Silent_p.F255F|SGK1_uc011ecw.2_Silent_p.F269F	NM_005627	NP_005618	O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 1, mRNA.	241	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGCAGAGTCCGAAGTCAGTAA	0.448													A	134493394	G	A	134493394	2	1	75	1	0	0	0	0	0	0	0	1	14300	1049	37	1		1	SGK1	6	134493394	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08	93327311	134493394	36621673	24	4896											
KBTBD2	25948	broad.mit.edu	37	chr7	32909459	32909459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcaaaggacctactaGtctgtctcatggccatttct	10	12	8	11	0	3	1	1	1	3	0	4	2	3	2	2	2	2	1	2	2	4	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:32909459G>T	uc003tdb.2	-	3	2029	c.1370C>A	c.(1369-1371)aCt>aAt	p.T457N	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	457										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			GGACCTACTAGTCTGTCTCAT	0.438													T	32909459	G	T	32909459	3	4	75	1	0	0	0	0	1	0	0	0	8051	1029	36	4	505	4	KBTBD2	7	32909459	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		32909459	126229204	25	4897											
IKZF1	10320	broad.mit.edu	37	chr7	50467932	50467932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctcggagcgcgaggcgtcCccgagcaacagctgccaaga	9	3	13	16	5	0	1	0	0	0	1	2	4	1	2	4	2	5	2	4	2	2	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:50467932C>T	uc003tow.4	+	7	1322	c.1167C>T	c.(1165-1167)tcC>tcT	p.S389S	IKZF1_uc022acq.1_Silent_p.S246S|IKZF1_uc003tpa.4_Silent_p.S154S|IKZF1_uc022acr.1_Silent_p.S164S|IKZF1_uc022acs.1_Silent_p.S119S|IKZF1_uc022act.1_Silent_p.S292S|IKZF1_uc022acu.1_Silent_p.S302S|IKZF1_uc003tox.4_Silent_p.S347S|IKZF1_uc022acv.1_Silent_p.S250S|IKZF1_uc022acw.1_Silent_p.S260S|IKZF1_uc022acx.1_Silent_p.S302S|IKZF1_uc022acy.1_Silent_p.S196S|IKZF1_uc022acz.1_Silent_p.S206S|IKZF1_uc011kck.2_Silent_p.S302S|IKZF1_uc003toy.4_Silent_p.S347S|IKZF1_uc003toz.4_Silent_p.S359S|IKZF1_uc010kyx.3_Silent_p.S129S	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	389					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCGAGGCGTCCCCGAGCAACA	0.672			"D,T"	BCL6	"ALL, DLBCL"								T	50467932	C	T	50467932	2	4	75	1	0	0	0	0	0	0	0	1	7672	610	22	2		2	IKZF1	7	50467932	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	17558473	50467932	108670731	26	4898											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	75	1	0	0	0	0	1	0	0	0	5006	1319	46	2	891	2	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	4753889	55221821	103916842	27	4899											
SEMA3C	10512	broad.mit.edu	37	chr7	80387708	80387708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcaataagggtcccGcgccaggcagcagtcagcac	10	3	13	15	3	1	0	1	0	0	0	2	0	2	0	3	3	2	4	3	3	2	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:80387708G>A	uc011kgw.2	-	14	1715	c.1636C>T	c.(1636-1638)Cgg>Tgg	p.R546W	SEMA3C_uc003uhj.3_Missense_Mutation_p.R528W	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	528					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TAAGGGTCCCGCGCCAGGCAG	0.527													A	80387708	G	A	80387708	3	1	75	1	0	0	0	0	1	0	0	0	14119	1086	38	1	689	1	SEMA3C	7	80387708	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	25165887	80387708	78750955	28	4900											
NPTX2	4885	broad.mit.edu	37	chr7	98257875	98257875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgggtggacaataacgtCgatgtgttcggaggggcctc	7	9	16	9	4	0	0	0	0	0	0	3	3	0	2	2	5	1	1	2	5	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:98257875C>T	uc003upl.2	+	4	1407	c.1230C>T	c.(1228-1230)gtC>gtT	p.V410V		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	410	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.V410V(2)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACAATAACGTCGATGTGTTCG	0.582													T	98257875	C	T	98257875	2	4	75	1	0	0	0	0	0	0	0	1	10679	871	31	1		1	NPTX2	7	98257875	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	17870167	98257875	60880788	29	4901											
MUC17	140453	broad.mit.edu	37	chr7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtgaaggaaccactcCgttaacaagtatacctgtca	13	10	7	11	1	1	1	1	1	0	0	3	2	3	2	4	1	3	2	4	1	7	4	rs141608296		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100678887C>T	uc003uxp.1	+	2	4243	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1397	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)					GGAACCACTCCGTTAACAAGT	0.507													T	100678887	C	T	100678887	3	4	75	1	0	0	0	0	1	0	0	0	10050	652	23	1	4200	1	MUC17	7	100678887	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	2421012	100678887	58459776	30	4902											
FIS1	51024	broad.mit.edu	37	chr7	100887381	100887381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgctcttggacaccgAgcctgctgccttctcagact	5	11	10	15	2	2	1	1	0	2	1	3	3	2	2	3	1	5	2	3	1	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:100887381A>T	uc003uyj.4	-	1	171	c.85T>A	c.(85-87)Tcg>Acg	p.S29T	FIS1_uc010lht.3_Non-coding_Transcript|FIS1_uc010lhu.3_Intron	NM_016068	NP_057152	Q9Y3D6	FIS1_HUMAN	Homo sapiens fission 1 (mitochondrial outer membrane) homolog (S. cerevisiae) (FIS1), nuclear gene encoding mitochondrial protein, mRNA.	29					apoptosis|mitochondrial fission|peroxisome fission	integral to mitochondrial outer membrane|integral to peroxisomal membrane	protein binding			kidney(1)|large_intestine(2)|lung(1)	4	Lung NSC(181;0.168)|all_lung(186;0.215)					TTGGACACCGAGCCTGCTGCC	0.512											OREG0018218	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	100887381	A	T	100887381	3	4	75	1	0	0	0	0	1	0	0	0	5946	304	11	5	389	5	FIS1	7	100887381	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	208494	100887381	58251282	31	4903											
DUS4L	11062	broad.mit.edu	37	chr7	107214222	107214222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctcgtatagtctgTccttatgcgaatggaataga	10	13	11	7	2	1	1	0	0	1	1	3	4	2	2	1	1	3	3	1	1	6	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr7:107214222T>G	uc003veh.3	+	4	645	c.312T>G	c.(310-312)tgT>tgG	p.C104W	DUS4L_uc011klw.2_Intron|DUS4L_uc011klx.2_5'UTR|DUS4L_uc022ajw.1_Intron|DUS4L_uc010ljl.3_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	104					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						GTATAGTCTGTCCTTATGCGA	0.383													G	107214222	T	G	107214222	3	3	75	1	0	0	0	0	1	0	0	0	4847	1673	58	5	322	5	DUS4L	7	107214222	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	6326841	107214222	51924441	32	4904											
RHOBTB2	23221	broad.mit.edu	37	chr8	22864290	22864290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagaagggtcgggaggtgGccaaggagctgggcatcccc	9	4	18	10	1	0	1	0	0	0	1	2	4	1	3	3	6	1	2	3	6	2	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:22864290G>A	uc003xcp.2	+	6	881	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	RHOBTB2_uc011kzp.1_Missense_Mutation_p.A185T|RHOBTB2_uc003xcq.2_Missense_Mutation_p.A178T|BC043400_uc003xcr.3_Non-coding_Transcript	NM_001160036	NP_055993	Q9BYZ6	RHBT2_HUMAN	Homo sapiens Rho-related BTB domain containing 2 (RHOBTB2), transcript variant 1, mRNA.	178	Rho-like.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	31		Prostate(55;0.0513)|Breast(100;0.214)		Colorectal(74;0.0157)|COAD - Colon adenocarcinoma(73;0.064)		TCGGGAGGTGGCCAAGGAGCT	0.577													A	22864290	G	A	22864290	3	1	75	1	0	0	0	0	1	0	0	0	13423	1203	42	2	631	2	RHOBTB2	8	22864290	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		22864290	123499732	33	4905											
TEX15	56154	broad.mit.edu	37	chr8	30699744	30699744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagctgtaaaatctTccttctgttatacagcattt	9	18	4	10	0	4	0	1	0	3	0	6	0	5	0	1	0	3	4	1	0	4	7			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:30699744T>C	uc003xil.3	-	0	6790	c.6790A>G	c.(6790-6792)Aag>Gag	p.K2264E		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2264										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGTAAAATCTTCCTTCTGTTA	0.313													C	30699744	T	C	30699744	3	2	75	1	0	0	0	0	1	0	0	0	15879	1792	62	3	1595	3	TEX15	8	30699744	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	7835454	30699744	115664278	34	4906											
PLEC	5339	broad.mit.edu	37	chr8	144993481	144993481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcgtcgctggggtccGccaggacgcggttcatctcc	3	10	15	13	5	2	0	1	0	1	0	6	1	3	1	3	5	0	2	3	5	0	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr8:144993481G>A	uc003zaf.1	-	31	11089	c.10919C>T	c.(10918-10920)gCg>gTg	p.A3640V	PLEC_uc003zab.1_Missense_Mutation_p.A3503V|PLEC_uc003zac.1_Missense_Mutation_p.A3507V|PLEC_uc003zad.2_Missense_Mutation_p.A3503V|PLEC_uc003zae.1_Missense_Mutation_p.A3471V|PLEC_uc003zag.1_Missense_Mutation_p.A3481V|PLEC_uc003zah.2_Missense_Mutation_p.A3489V|PLEC_uc003zaj.2_Missense_Mutation_p.A3530V	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3640	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCTGGGGTCCGCCAGGACGCG	0.662													A	144993481	G	A	144993481	3	1	75	1	0	0	0	0	1	0	0	0	12129	1087	38	1	3139	1	PLEC	8	144993481	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	114293737	144993481	1370541	35	4907											
CDKN2A	1029	broad.mit.edu	37	chr9	21971124	21971125	+	Frame_Shift_Del	DEL	GA	GA	-																															gcgtcgtgcacgggtcgggtGagagtggcggggtcggcgca																										TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr9:21971124_21971125delGA	uc003zpk.3	-	1	539_540	c.233_234delTC	c.(232-234)ctcfs	p.L78fs	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Frame_Shift_Del_p.L78fs|CDKN2A_uc003zpl.3_Frame_Shift_Del_p.S92fs	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	78					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.L78fs*41(29)|p.L78fs*67(2)|p.E61_L94del(2)|p.T77fs*43(2)|p.L78H(2)|p.L65fs*38(1)|p.0(1)|p.L78fs*68(1)|p.A76fs*64(1)|p.T79fs*41(1)|p.H134fs*>40(1)|p.A68fs*3(1)|p.T77S(1)|p.T77fs*69(1)|p.H134fs*41(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CGGGTCGGGTGAGAGTGGCGGG	0.723		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			-	21971125	GA	-	21971124	7	5	75	1	0	1	0	1	0	0	0	0	3191	1290	45	0	244	0	CDKN2A	9	21971124	Frame_Shift_Del	DEL	GA	TCGA-06-2557-01A-01D-1494-08		21971124	119242307	36	4908											
AKR1C3	1645	broad.mit.edu	37	chr10	5014817	5014817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcttggaggacccagtccTttgtgccttggcaaaaaagc	9	10	11	11	0	1	0	0	0	1	0	2	2	2	2	3	3	2	2	3	3	3	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:5014817T>A	uc001iho.3	+	11	1563	c.722T>A	c.(721-723)cTt>cAt	p.L241H	AKR1C3_uc001ihr.3_Intron|AKR1C3_uc001ihq.3_Missense_Mutation_p.L241H	NM_001353	NP_001344	P42330	AK1C3_HUMAN	Homo sapiens aldo-keto reductase family 1, member C1 (dihydrodiol dehydrogenase 1; 20-alpha (3-alpha)-hydroxysteroid dehydrogenase) (AKR1C1), mRNA.	241					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GACCCAGTCCTTTGTGCCTTG	0.592													A	5014817	T	A	5014817	3	1	75	1	0	0	0	0	1	0	0	0	471	1609	56	5		5	AKR1C3	10	5014817	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08		5014817	130519930	37	4909											
SORCS3	22986	broad.mit.edu	37	chr10	107015536	107015536	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggggtacaagtcattgTgtatgtcacacagctgacgt	9	10	13	9	2	2	1	2	1	0	0	2	1	2	1	1	2	2	3	1	2	3	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr10:107015536T>G	uc001kyi.1	+	23	3541	c.3314T>G	c.(3313-3315)gTg>gGg	p.V1105G		NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	1105						integral to membrane	neuropeptide receptor activity	p.V1105L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CAAGTCATTGTGTATGTCACA	0.438													G	107015536	T	G	107015536	3	3	75	1	0	0	0	0	1	0	0	0	15026	1696	59	5	3408	5	SORCS3	10	107015536	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	102000719	107015536	28519211	38	4910											
MADD	8567	broad.mit.edu	37	chr11	47307122	47307122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accagcaccgagggcttcggGggcatcatgtcttttgccag	7	9	13	12	2	2	0	1	0	1	0	3	1	2	0	3	3	2	3	3	3	0	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:47307122G>A	uc001ner.1	+	13	2723	c.2532G>A	c.(2530-2532)ggG>ggA	p.G844G	MADD_uc001neq.2_Silent_p.G844G|MADD_uc001nev.1_Silent_p.G801G|MADD_uc001nes.1_Silent_p.G801G|MADD_uc001net.1_Silent_p.G844G|MADD_uc009yln.1_Silent_p.G801G|MADD_uc001neu.1_Silent_p.G801G|MADD_uc001nez.2_Silent_p.G801G|MADD_uc001new.2_Silent_p.G844G|MADD_uc001nex.2_Silent_p.G844G	NM_003682	NP_003673	Q8WXG6	MADD_HUMAN	Homo sapiens MAP-kinase activating death domain (MADD), transcript variant 4, mRNA.	844					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	p.G844W(1)		breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGGCTTCGGGGGCATCATGT	0.532													A	47307122	G	A	47307122	2	1	75	1	0	0	0	0	0	0	0	1	9223	1219	43	2		2	MADD	11	47307122	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		47307122	87699394	39	4911											
OR5T3	390154	broad.mit.edu	37	chr11	56019879	56019879	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaatctatctctttacCttgataggcaatttagggct	9	17	7	8	0	2	1	0	1	2	0	3	1	2	1	1	2	2	3	1	2	6	8			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:56019879C>A	uc010rjd.2	+	0	204	c.204C>A	c.(202-204)acC>acA	p.T68T		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCTCTTTACCTTGATAGGCA	0.373													A	56019879	C	A	56019879	2	1	75	1	0	0	0	0	0	0	0	1	11259	668	24	4		4	OR5T3	11	56019879	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	8712757	56019879	78986637	40	4912											
MS4A3	932	broad.mit.edu	37	chr11	59834575	59834575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctatgcaattacatgggctCcatatcaaatgtatgtttct	11	15	6	9	0	2	0	1	0	1	0	3	0	3	0	2	1	2	4	2	1	6	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:59834575C>T	uc001nom.3	+	4	631	c.503C>T	c.(502-504)tCc>tTc	p.S168F	MS4A3_uc001non.3_Missense_Mutation_p.S122F|MS4A3_uc001noo.3_Missense_Mutation_p.S45F	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	168						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TACATGGGCTCCATATCAAAT	0.343													T	59834575	C	T	59834575	3	4	75	1	0	0	0	0	1	0	0	0	9937	855	30	2	517	2	MS4A3	11	59834575	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	3814696	59834575	75171941	41	4913											
AHNAK	79026	broad.mit.edu	37	chr11	62300927	62300927	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttggtgtctggcccTcacgccctgttgagacacca	5	11	10	15	1	2	1	1	1	1	1	2	2	2	1	4	2	1	1	4	2	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:62300927T>G	uc001ntl.3	-	4	1262	c.962A>C	c.(961-963)gAg>gCg	p.E321A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	321					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TGTCTGGCCCTCACGCCCTGT	0.552													G	62300927	T	G	62300927	3	3	75	1	0	0	0	0	1	0	0	0	414	1551	54	5	16830	5	AHNAK	11	62300927	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08	2466352	62300927	72705589	42	4914											
FLRT1	23769	broad.mit.edu	37	chr11	63884137	63884137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccctccgggagctgcAcctgcaggacaacaatgtgc	8	6	11	16	2	0	0	0	0	0	0	2	2	2	2	4	2	5	4	4	2	2	0			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:63884137A>G	uc021qks.1	+	0	398	c.398A>G	c.(397-399)cAc>cGc	p.H133R	MACROD1_uc001nyh.3_Intron|FLRT1_uc001nyi.1_Missense_Mutation_p.H133R	NM_013280	NP_037412	Q9NZU1	FLRT1_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 1 (FLRT1), mRNA.	105					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CGGGAGCTGCACCTGCAGGAC	0.602													G	63884137	A	G	63884137	3	3	75	1	0	0	0	0	1	0	0	0	5987	159	6	3	400	3	FLRT1	11	63884137	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	1583210	63884137	71122379	43	4915											
KAT5	10524	broad.mit.edu	37	chr11	65482151	65482151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaactcaccacattgcctgtCctctacctgtgcgagttctg	7	12	8	14	1	3	0	1	0	2	0	4	2	4	0	4	0	4	1	4	0	2	3			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr11:65482151C>T	uc001ofi.3	+	7	1043	c.777C>T	c.(775-777)gtC>gtT	p.V259V	KAT5_uc001ofj.3_Silent_p.V207V|KAT5_uc001ofk.3_Silent_p.V292V|KAT5_uc010roo.2_Silent_p.V240V|KAT5_uc001ofl.3_Silent_p.V48V	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	259					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CATTGCCTGTCCTCTACCTGT	0.582													T	65482151	C	T	65482151	2	4	75	1	0	0	0	0	0	0	0	1	8041	842	30	2		2	KAT5	11	65482151	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	1598014	65482151	69524365	44	4916											
APOBEC1	339	broad.mit.edu	37	chr12	7805333	7805333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttcgccagatcttcCggctcatgccccacttgatt	6	12	8	15	2	2	3	1	2	1	1	4	3	3	3	4	1	2	2	4	1	0	4	rs149648198		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:7805333C>T	uc001qtb.3	-	2	177	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	APOBEC1_uc001qtc.3_Missense_Mutation_p.R3Q	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	48					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CCAGATCTTCCGGCTCATGCC	0.453													T	7805333	C	T	7805333	3	4	75	1	0	0	0	0	1	0	0	0	790	652	23	1	579	1	APOBEC1	12	7805333	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		7805333	126046562	45	4917											
ATF7IP	55729	broad.mit.edu	37	chr12	14589059	14589059	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgaattttctagacgaaaAcgttctaaatcagaagacat	17	11	7	6	2	3	4	1	1	2	3	3	6	3	4	0	0	1	1	0	0	7	5	rs141409610		TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:14589059A>T	uc001rbw.3	+	3	1823	c.1665A>T	c.(1663-1665)aaA>aaT	p.K555N	ATF7IP_uc010shs.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbu.3_Missense_Mutation_p.K555N|ATF7IP_uc001rbv.1_Missense_Mutation_p.K554N|ATF7IP_uc001rbx.3_Missense_Mutation_p.K554N|ATF7IP_uc010sht.1_Missense_Mutation_p.K555N|ATF7IP_uc001rby.4_Missense_Mutation_p.K555N|ATF7IP_uc001rca.3_Missense_Mutation_p.K555N	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	555	Glu-rich.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTAGACGAAAACGTTCTAAAT	0.348													T	14589059	A	T	14589059	3	4	75	1	0	0	0	0	1	0	0	0	1092	40	2	5	1675	5	ATF7IP	12	14589059	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	6783726	14589059	119262836	46	4918											
FAM113B	91523	broad.mit.edu	37	chr12	47629951	47629951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccatgcaggtttcttcGtcgaagacaattttatggtt	9	14	9	9	2	1	1	0	0	1	1	3	2	1	1	1	2	2	3	1	2	3	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:47629951G>A	uc001rpq.3	+	1	1630	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	FAM113B_uc001rpn.3_Missense_Mutation_p.V369I|FAM113B_uc021qxi.1_Missense_Mutation_p.V369I	NM_138371	NP_612380	Q96HM7	F113B_HUMAN	Homo sapiens family with sequence similarity 113, member B (FAM113B), mRNA.	369	Pro-rich.						hydrolase activity	p.F368F(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(10)	35	Renal(347;0.138)|Lung SC(27;0.192)					AGGTTTCTTCGTCGAAGACAA	0.527													A	47629951	G	A	47629951	3	1	75	1	0	0	0	0	1	0	0	0	5447	1145	40	1	1107	1	FAM113B	12	47629951	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	33040892	47629951	86221944	47	4919											
KRT84	3890	broad.mit.edu	37	chr12	52779219	52779219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgacactccgactacCaaagctgccaaggccccgga	11	5	11	14	2	0	2	0	2	0	0	1	4	1	3	5	3	3	1	5	3	3	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:52779219C>A	uc001sah.1	-	0	199	c.151G>T	c.(151-153)Ggt>Tgt	p.G51C		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	51	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CTCCGACTACCAAAGCTGCCA	0.582													A	52779219	C	A	52779219	3	1	75	1	0	0	0	0	1	0	0	0	8556	594	21	4	1687	4	KRT84	12	52779219	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	5149268	52779219	81072676	48	4920											
KRT76	51350	broad.mit.edu	37	chr12	53164870	53164870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagctcctggtagtcaCgcaggagccgagccaggtca	9	7	12	13	2	4	0	4	0	0	0	5	2	5	1	3	3	3	3	3	3	1	1	rs143394911	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:53164870C>T	uc001sax.3	-	6	1451	c.1397G>A	c.(1396-1398)cGt>cAt	p.R466H		NM_015848	NP_056932	Q01546	K22O_HUMAN	Homo sapiens keratin 76 (KRT76), mRNA.	466	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTGGTAGTCACGCAGGAGCCG	0.602													T	53164870	C	T	53164870	3	4	75	1	0	0	0	0	1	0	0	0	8547	536	19	1	531	1	KRT76	12	53164870	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	385651	53164870	80687025	49	4921											
MMAB	326625	broad.mit.edu	37	chr12	109994906	109994906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattcccctccttcatggctGcatatctggctagcgtgaag	7	12	10	12	1	2	1	1	1	1	0	4	2	4	1	3	2	2	3	3	2	3	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr12:109994906G>A	uc001tou.3	-	8	753	c.680C>T	c.(679-681)gCa>gTa	p.A227V	MMAB_uc001tov.3_Non-coding_Transcript|MMAB_uc010sxq.2_Missense_Mutation_p.A136V	NM_052845	NP_443077	Q96EY8	MMAB_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblB type (MMAB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	227					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCATGGCTGCATATCTGGC	0.473													A	109994906	G	A	109994906	3	1	75	1	0	0	0	0	1	0	0	0	9715	1319	46	2	76	2	MMAB	12	109994906	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	56830036	109994906	23856989	50	4922											
ZNF410	57862	broad.mit.edu	37	chr14	74360573	74360573	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatcagaagctaaagataTtacttgcttgtccctccttc	12	13	6	10	0	1	3	1	0	0	3	4	3	3	3	2	0	3	2	2	0	6	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:74360573T>C	uc010arz.2	+	2	557	c.107T>C	c.(106-108)aTt>aCt	p.I36T	ZNF410_uc001xoy.2_Non-coding_Transcript|ZNF410_uc010ary.2_Non-coding_Transcript|ZNF410_uc010tuf.2_Non-coding_Transcript|ZNF410_uc010tui.2_Non-coding_Transcript|ZNF410_uc001xpa.2_5'UTR|ZNF410_uc001xoz.2_Missense_Mutation_p.I36T|ZNF410_uc001xpb.2_Missense_Mutation_p.I36T|ZNF410_uc010tug.2_5'UTR|ZNF410_uc010tuh.2_Missense_Mutation_p.I36T	NM_001242924	NP_001229853	Q86VK4	ZN410_HUMAN	Homo sapiens zinc finger protein 410 (ZNF410), transcript variant 1, mRNA.	36					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		GCTAAAGATATTACTTGCTTG	0.443													C	74360573	T	C	74360573	3	2	75	1	0	0	0	0	1	0	0	0	17991	1493	52	3	113	3	ZNF410	14	74360573	Missense_Mutation	SNP	T	TCGA-06-2557-01A-01D-1494-08		74360573	32988967	51	4923											
GPR65	8477	broad.mit.edu	37	chr14	88478073	88478073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtactgttttgtaacCgaaacaggaagatatgatat	14	14	8	5	1	1	2	0	1	1	1	1	4	1	3	1	1	3	3	1	1	6	7			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:88478073C>T	uc021rxh.1	+	0	882	c.882C>T	c.(880-882)acC>acT	p.T294T	GPR65_uc001xvv.3_Silent_p.T294T	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	294					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						GTTTTGTAACCGAAACAGGAA	0.353													T	88478073	C	T	88478073	2	4	75	1	0	0	0	0	0	0	0	1	6760	639	23	1		1	GPR65	14	88478073	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	14117500	88478073	18871467	52	4924											
DICER1	23405	broad.mit.edu	37	chr14	95557393	95557393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatttggcagtttctggttCcatttcaagcaattctcgca	10	15	7	9	1	3	0	1	0	2	0	5	0	4	0	1	2	1	5	1	2	3	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr14:95557393C>T	uc001ydw.2	-	26	5793	c.5581G>A	c.(5581-5583)Gaa>Aaa	p.E1861K	DICER1_uc010avh.1_Missense_Mutation_p.E759K|DICER1_uc021sbc.1_Nonsense_Mutation_p.W1806*|DICER1_uc001ydv.2_Missense_Mutation_p.E1851K|DICER1_uc001ydx.2_Missense_Mutation_p.E1861K	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1861	DRBM.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		GTTTCTGGTTCCATTTCAAGC	0.323			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				T	95557393	C	T	95557393	3	4	75	1	0	0	0	0	1	0	0	0	4560	864	30	2	195	2	DICER1	14	95557393	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	7079320	95557393	11792147	53	4925											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164337	85164337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggatccacacgggggaaaAgcccttccagtgtgccgagt	10	6	14	11	2	0	0	0	0	0	0	2	4	2	2	4	3	2	0	4	3	2	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr15:85164337A>G	uc002bkr.3	+	2	1137	c.911A>G	c.(910-912)aAg>aGg	p.K304R	ZSCAN2_uc010bmz.1_Missense_Mutation_p.K302R|ZSCAN2_uc010bna.3_Missense_Mutation_p.K154R|ZSCAN2_uc010uoz.1_Intron|ZSCAN2_uc010uox.1_Intron|ZSCAN2_uc010uoy.1_Intron	NM_181877	NP_870992	Q7Z7L9	ZSCA2_HUMAN	Homo sapiens zinc finger and SCAN domain containing 2 (ZSCAN2), transcript variant 1, mRNA.	304					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		ACGGGGGAAAAGCCCTTCCAG	0.577													G	85164337	A	G	85164337	3	3	75	1	0	0	0	0	1	0	0	0	18329	72	3	3	1007	3	ZSCAN2	15	85164337	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08		85164337	17367055	54	4926											
PDZD9	255762	broad.mit.edu	37	chr16	21995750	21995750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcacttctttcttgtcGtctctgtgaatcatcacgtc	5	16	6	14	2	6	1	3	1	3	0	9	1	6	1	1	0	0	0	1	0	1	3	rs146108684	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:21995750G>A	uc021ter.1	-	2	516	c.453C>T	c.(451-453)gaC>gaT	p.D151D	PDZD9_uc002dka.2_Silent_p.D149D	NM_173806	NP_776167	Q8IXQ8	PDZD9_HUMAN	Homo sapiens PDZ domain containing 9 (PDZD9), transcript variant 1, mRNA.	211								p.D150E(1)		breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						CTTTCTTGTCGTCTCTGTGAA	0.423													A	21995750	G	A	21995750	2	1	75	1	0	0	0	0	0	0	0	1	11782	1136	40	1		1	PDZD9	16	21995750	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		21995750	68359003	55	4927											
IL27	246778	broad.mit.edu	37	chr16	28515112	28515112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggcaggtgagattcCgcctggggggcaaggtctgt	6	9	16	10	1	1	1	0	1	1	1	3	2	3	1	3	6	0	2	3	6	1	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:28515112C>T	uc002dqc.3	-	2	230	c.207G>A	c.(205-207)gcG>gcA	p.A69A	NPIPL1_uc010vct.2_Intron	NM_145659	NP_663634	Q8NEV9	IL27A_HUMAN	Homo sapiens interleukin 27 (IL27), mRNA.	69					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						GGTGAGATTCCGCCTGGGGGG	0.632													T	28515112	C	T	28515112	2	4	75	1	0	0	0	0	0	0	0	1	7738	639	23	1		1	IL27	16	28515112	Silent	SNP	C	TCGA-06-2557-01A-01D-1494-08	6519362	28515112	61839641	56	4928											
HEATR3	55027	broad.mit.edu	37	chr16	50106625	50106625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctggctatttcagtaGgtaagtgaagaaaaggtgat	13	12	12	4	0	1	4	1	3	0	1	1	4	1	4	1	3	0	3	1	3	6	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr16:50106625G>A	uc002efw.3	+	5	784	c.622_splice	c.e5+1	p.A208_splice	HEATR3_uc021thv.1_Splice_Site_p.A122_splice|HEATR3_uc002efx.3_Splice_Site_p.A122_splice	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	208							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TATTTCAGTAGGTAAGTGAAG	0.348													A	50106625	G	A	50106625	3	1	75	1	0	0	0	0	1	0	0	0	7084	1014	35	2	640	2	HEATR3	16	50106625	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08	21591513	50106625	40248128	57	4929											
RABEP1	9135	broad.mit.edu	37	chr17	5286437	5286437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcagttagagcggatccgGcaagctgactccttggagag	9	8	15	9	2	0	3	0	1	0	2	2	5	2	4	2	3	3	4	2	3	2	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:5286437G>A	uc002gbm.4	+	17	2732	c.2508G>A	c.(2506-2508)cgG>cgA	p.R836R	RABEP1_uc010vsw.1_Silent_p.R793R|RABEP1_uc002gbl.4_Silent_p.R803R|NUP88_uc002gbn.3_Intron	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	836					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity	p.R836R(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGCGGATCCGGCAAGCTGACT	0.473													A	5286437	G	A	5286437	2	1	75	1	0	0	0	0	0	0	0	1	13049	1190	42	2		2	RABEP1	17	5286437	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		5286437	75908773	58	4930											
MYH13	8735	broad.mit.edu	37	chr17	10215363	10215363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaactcagcctggctttCgtccagcttttgcttccact	5	15	6	15	1	1	0	1	0	0	0	5	0	4	0	4	1	4	3	4	1	1	5			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr17:10215363C>T	uc002gmk.1	-	31	4486	c.4396G>A	c.(4396-4398)Gaa>Aaa	p.E1466K		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1466					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCTGGCTTTCGTCCAGCTTT	0.517													T	10215363	C	T	10215363	3	4	75	1	0	0	0	0	1	0	0	0	10108	893	31	1	1460	1	MYH13	17	10215363	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	4928926	10215363	70979847	59	4931											
ATG4D	84971	broad.mit.edu	37	chr19	10655709	10655709	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacttcccgccccttccTgggggctgcctgacctcgga	3	8	13	17	3	0	1	0	1	0	0	3	3	2	3	6	4	1	1	6	4	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:10655709T>G	uc002mov.3	+	2	516	c.396T>G	c.(394-396)ccT>ccG	p.P132P	ATG4D_uc010xlg.2_Silent_p.P155P|ATG4D_uc010xlh.2_Silent_p.P69P|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_5'UTR	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	132					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGCCCCTTCCTGGGGGCTGCC	0.632													G	10655709	T	G	10655709	2	3	75	1	0	0	0	0	0	0	0	1	1104	1567	55	5		5	ATG4D	19	10655709	Silent	SNP	T	TCGA-06-2557-01A-01D-1494-08		10655709	48473274	60	4932											
ZNF208	7757	broad.mit.edu	37	chr19	22156647	22156647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacattcttcacatttgtAgggtttctctccagtatgaa	9	15	7	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:22156647A>G	uc021urr.1	-	3	1338	c.1189T>C	c.(1189-1191)Tac>Cac	p.Y397H	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCACATTTGTAGGGTTTCTCT	0.388													G	22156647	A	G	22156647	3	3	75	1	0	0	0	0	1	0	0	0	17867	420	15	3	2657	3	ZNF208	19	22156647	Missense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08	11500938	22156647	36972336	61	4933											
TRPM4	54795	broad.mit.edu	37	chr19	49671909	49671910	+	In_Frame_Ins	INS	-	-	GCA																															cttcttcctggtggacgacgINSgcacacacggctgcctgggg																										TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:49671909_49671910insGCA	uc002pmw.3	+	5	820_821	c.712_713insGCA	c.(712-714)ggc>gGCAgc	p.238_239insS	TRPM4_uc010emu.3_In_Frame_Ins_p.238_239insS|TRPM4_uc010yak.2_5'UTR|TRPM4_uc002pmx.3_In_Frame_Ins_p.64_65insS|TRPM4_uc010emv.3_In_Frame_Ins_p.123_124insS|TRPM4_uc010yal.2_5'UTR	NM_017636	NP_060106	Q8TD43	TRPM4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 4 (TRPM4), transcript variant 1, mRNA.	238					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		GGTGGACGACGGCACACACGGC	0.658													GCA	49671910	-	GCA	49671909	7	5	75	1	0	1	1	0	0	0	0	0	16689	1116	39	0	734	0	TRPM4	19	49671909	In_Frame_Ins	INS	-	TCGA-06-2557-01A-01D-1494-08	27515262	49671909	9457074	62	4934											
LENG1	79165	broad.mit.edu	37	chr19	54660572	54660573	+	Frame_Shift_Del	DEL	TC	TC	-																															ccttcatcaccgccgtgctgTctcttcttccccagatgctt																										TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr19:54660572_54660573delTC	uc002qdm.3	-	2	516_517	c.503_504delGA	c.(502-504)agafs	p.R168fs		NM_024316	NP_077292	Q96BZ8	LENG1_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 1 (LENG1), mRNA.	168										breast(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	8	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCCGTGCTGTCTCTTCTTCCC	0.634													-	54660573	TC	-	54660572	7	5	75	1	0	1	0	1	0	0	0	0	8782	1664	58	0	298	0	LENG1	19	54660572	Frame_Shift_Del	DEL	TC	TCGA-06-2557-01A-01D-1494-08	4988663	54660572	4468411	63	4935											
NAPB	63908	broad.mit.edu	37	chr20	23383673	23383673	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacatatttgcagctctggtAtacatttcacaagcctcttc	11	14	5	11	0	3	0	1	0	2	0	4	0	3	0	1	1	5	3	1	1	5	6			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:23383673A>T	uc002wtb.3	-	1	252	c.135T>A	c.(133-135)taT>taA	p.Y45*	NAPB_uc002wta.3_Nonsense_Mutation_p.Y45*|NAPB_uc002wtc.3_5'UTR|NAPB_uc002wtd.4_Non-coding_Transcript|NAPB_uc010zst.1_Nonsense_Mutation_p.Y45*	NM_022080	NP_071363	Q9H115	SNAB_HUMAN	Homo sapiens N-ethylmaleimide-sensitive factor attachment protein, beta (NAPB), mRNA.	45					intracellular protein transport|vesicle-mediated transport	membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12	Lung NSC(19;0.0646)|Colorectal(13;0.0993)|all_lung(19;0.143)					CAGCTCTGGTATACATTTCAC	0.338													T	23383673	A	T	23383673	4	4	75	1	0	0	0	0	0	1	0	0	10238	456	16	5	801	5	NAPB	20	23383673	Nonsense_Mutation	SNP	A	TCGA-06-2557-01A-01D-1494-08		23383673	39641847	64	4936											
MOCS3	27304	broad.mit.edu	37	chr20	49576077	49576077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccccaaccacccccagCggagacagtgaccaactgcg	11	4	8	18	2	0	2	0	1	0	1	1	3	1	2	6	1	4	0	6	1	2	1			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr20:49576077C>T	uc002xvy.1	+	0	715	c.698C>T	c.(697-699)gCg>gTg	p.A233V	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	233					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CCACCCCCAGCGGAGACAGTG	0.622													T	49576077	C	T	49576077	3	4	75	1	0	0	0	0	1	0	0	0	9768	768	27	1	700	1	MOCS3	20	49576077	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08	26192404	49576077	13449443	65	4937											
PRDM15	63977	broad.mit.edu	37	chr21	43279747	43279747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgaccatgaccactgggcCcagctcgggacattcggagt	8	9	12	12	2	0	2	0	2	0	0	2	4	0	4	3	3	1	1	3	3	0	2			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr21:43279747C>T	uc002yzq.1	-	8	1096	c.985G>A	c.(985-987)Ggc>Agc	p.G329S	PRDM15_uc002yzo.3_Missense_Mutation_p.G66S|PRDM15_uc002yzp.3_Missense_Mutation_p.G66S|PRDM15_uc002yzr.1_Missense_Mutation_p.G66S	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						ACCACTGGGCCCAGCTCGGGA	0.597													T	43279747	C	T	43279747	3	4	75	1	0	0	0	0	1	0	0	0	12542	623	22	2	3630	2	PRDM15	21	43279747	Missense_Mutation	SNP	C	TCGA-06-2557-01A-01D-1494-08		43279747	4850148	66	4938											
SEC14L3	266629	broad.mit.edu	37	chr22	30857619	30857619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatctgcaccgagtgctcGtactgagtcttcacctggtc	6	13	10	12	2	3	2	1	2	2	0	5	3	3	2	2	1	3	3	2	1	1	3	rs139964800	byFrequency	TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chr22:30857619G>A	uc003ahy.3	-	9	923	c.834C>T	c.(832-834)taC>taT	p.Y278Y	SEC14L3_uc003ahz.3_Silent_p.Y201Y|SEC14L3_uc003aia.3_Silent_p.Y219Y|SEC14L3_uc003aib.3_Silent_p.Y219Y	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	278	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CCGAGTGCTCGTACTGAGTCT	0.572													A	30857619	G	A	30857619	2	1	75	1	0	0	0	0	0	0	0	1	14076	1140	40	1		1	SEC14L3	22	30857619	Silent	SNP	G	TCGA-06-2557-01A-01D-1494-08		30857619	20446947	67	4939											
MAGEB6	158809	broad.mit.edu	37	chrX	26212711	26212711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggtggtggcctttggcGttgaattgaaagaaatggat	10	14	14	3	1	0	3	0	2	0	1	0	4	0	4	1	5	0	1	1	5	3	4			TCGA-06-2557-01A-01D-1494-08	TCGA-06-2557-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c27290e4-6835-448a-abdc-df8ddd5f4630	7113eb4c-ea48-40a8-b75f-ed5df7b04ff0	g.chrX:26212711G>A	uc022buc.1	+	0	748	c.748G>A	c.(748-750)Gtt>Att	p.V250I	MAGEB6_uc004dbr.3_Missense_Mutation_p.V250I	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	250	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GGCCTTTGGCGTTGAATTGAA	0.517													A	26212711	G	A	26212711	3	1	75	1	0	0	0	0	1	0	0	0	9254	1145	40	1	750	1	MAGEB6	23	26212711	Missense_Mutation	SNP	G	TCGA-06-2557-01A-01D-1494-08		26212711	129057849	68	4940											
AADACL4	343066	broad.mit.edu	37	chr1	12726621	12726621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaccagggggtccgcGtgacatggtaccacctgtat	8	8	15	10	2	0	1	0	1	0	0	1	3	1	3	4	5	1	2	4	5	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:12726621G>A	uc001auf.3	+	3	1099	c.1099G>A	c.(1099-1101)Gtg>Atg	p.V367M		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	367						integral to membrane	carboxylesterase activity	p.R366P(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGGGGTCCGCGTGACATGGTA	0.493													A	12726621	G	A	12726621	3	1	76	1	0	0	0	0	1	0	0	0	13	1145	40	1	1113	1	AADACL4	1	12726621	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		12726621	236524000	1	4941											
CNKSR1	10256	broad.mit.edu	37	chr1	26507045	26507045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcgaggctctggctgtgCggtctctgggacaccaggag	5	8	16	12	2	2	0	0	0	2	0	4	3	2	2	2	5	1	2	2	5	0	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:26507045C>T	uc001bln.4	+	1	212	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Missense_Mutation_p.R52W|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	52	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGCTGTGCGGTCTCTGGG	0.622													T	26507045	C	T	26507045	3	4	76	1	0	0	0	0	1	0	0	0	3637	759	27	1	160	1	CNKSR1	1	26507045	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	13780424	26507045	222743576	2	4942											
CYP4B1	1580	broad.mit.edu	37	chr1	47264924	47264924	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactggctttttggacaTgccctcgaggtatgtggagg	7	11	13	10	1	0	0	0	0	0	0	1	3	0	2	2	5	1	2	2	5	1	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:47264924T>C	uc001cqn.4	+	0	255	c.171T>C	c.(169-171)caT>caC	p.H57H	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Silent_p.H57H|CYP4B1_uc009vym.3_Silent_p.H57H|CYP4B1_uc010omk.2_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	57					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTTTTGGACATGCCCTCGAGG	0.572													C	47264924	T	C	47264924	2	2	76	1	0	0	0	0	0	0	0	1	4218	1461	51	3		3	CYP4B1	1	47264924	Silent	SNP	T	TCGA-06-2558-01A-01D-1494-08	20757879	47264924	201985697	3	4943											
CD101	9398	broad.mit.edu	37	chr1	117552685	117552685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctcttacgcagtatataCgcagcgggtgcgaagcggag	9	9	13	10	5	1	0	0	0	1	0	2	2	1	1	0	2	5	3	0	2	5	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:117552685C>T	uc010oxb.1	+	1	315	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CD101_uc009whd.3_Missense_Mutation_p.T86M|CD101_uc010oxc.1_Missense_Mutation_p.T86M|CD101_uc010oxd.1_Missense_Mutation_p.T86M	NM_004258	NP_004249	Q93033	IGSF2_HUMAN	Homo sapiens CD101 molecule (CD101), transcript variant 1, mRNA.	86	Ig-like C2-type 1.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GCAGTATATACGCAGCGGGTG	0.532													T	117552685	C	T	117552685	3	4	76	1	0	0	0	0	1	0	0	0	2992	536	19	1	263	1	CD101	1	117552685	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	70287761	117552685	131697936	4	4944											
ACP6	51205	broad.mit.edu	37	chr1	147119358	147119358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcagggcaacctctcGgcacctgctcctgcagaaga	9	6	10	16	1	2	2	1	0	1	2	4	2	3	2	4	2	3	4	4	2	2	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:147119358G>A	uc001epr.2	-	9	1618	c.1154C>T	c.(1153-1155)cCg>cTg	p.P385L		NM_016361	NP_057445	Q9NPH0	PPA6_HUMAN	Homo sapiens acid phosphatase 6, lysophosphatidic (ACP6), mRNA.	385					lipid metabolic process	extracellular region|mitochondrion	acid phosphatase activity|protein binding			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(4)|prostate(1)	16	all_hematologic(923;0.0276)					GCAACCTCTCGGCACCTGCTC	0.522													A	147119358	G	A	147119358	3	1	76	1	0	0	0	0	1	0	0	0	165	1116	39	1	136	1	ACP6	1	147119358	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	29566673	147119358	102131263	5	4945											
AQP10	89872	broad.mit.edu	37	chr1	154295505	154295505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgtgcatcgttggaCgcctcccctgggtcaagctc	5	10	12	14	2	1	0	1	0	0	0	4	1	2	1	4	3	2	3	4	3	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:154295505C>T	uc001feu.3	+	2	320	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	94					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity	p.G93*(1)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCGTTGGACGCCTCCCCTG	0.527													T	154295505	C	T	154295505	3	4	76	1	0	0	0	0	1	0	0	0	825	536	19	1	290	1	AQP10	1	154295505	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	7176147	154295505	94955116	6	4946											
CAMK1G	57172	broad.mit.edu	37	chr1	209773439	209773439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacagcagcctggagaatgaGattgctgtgttgaaaaagtg	13	9	14	5	0	0	3	0	2	0	2	0	6	0	3	1	1	3	3	1	1	3	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:209773439G>A	uc001hhd.3	+	2	306	c.204G>A	c.(202-204)gaG>gaA	p.E68E	CAMK1G_uc001hhf.4_Silent_p.E68E|CAMK1G_uc001hhe.3_Silent_p.E68E	NM_020439	NP_065172	Q96NX5	KCC1G_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IG (CAMK1G), mRNA.	68	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		TGGAGAATGAGATTGCTGTGT	0.453													A	209773439	G	A	209773439	2	1	76	1	0	0	0	0	0	0	0	1	2624	933	33	2		2	CAMK1G	1	209773439	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	55477934	209773439	39477182	7	4947											
GJC2	57165	broad.mit.edu	37	chr1	228345795	228345795	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagcaggagcggcgccgCgccctccgccgccgcccggg	3	3	16	19	8	1	1	0	1	1	0	2	2	2	2	6	3	2	1	6	3	0	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:228345795C>T	uc021pkg.1	+	0	336	c.336C>T	c.(334-336)cgC>cgT	p.R112R	GJC2_uc001hsk.3_Silent_p.R112R	NM_020435	NP_065168	Q5T442	CXG2_HUMAN	Homo sapiens gap junction protein, gamma 2, 47kDa (GJC2), mRNA.	112					cell death	connexon complex|integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Prostate(94;0.0405)				Agcggcgccgcgccctccgcc	0.766													T	228345795	C	T	228345795	2	4	76	1	0	0	0	0	0	0	0	1	6471	755	27	1		1	GJC2	1	228345795	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	18572356	228345795	20904826	8	4948											
OR2L8	391190	broad.mit.edu	37	chr1	248112821	248112821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcctatggccaggttcTctttgctgtctaccacatga	7	15	8	11	0	2	1	0	1	2	0	4	1	3	1	3	2	2	3	3	2	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr1:248112821T>C	uc001idt.1	+	0	662	c.662T>C	c.(661-663)cTc>cCc	p.L221P	OR2L13_uc001ids.3_Intron	NM_001001963	NP_001001963	Q8NGY9	OR2L8_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 8 (OR2L8), mRNA.	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGCCAGGTTCTCTTTGCTGTC	0.463													C	248112821	T	C	248112821	3	2	76	1	0	0	0	0	1	0	0	0	11085	1551	54	3	664	3	OR2L8	1	248112821	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	19767026	248112821	1137800	9	4949											
RNF144A	9781	broad.mit.edu	37	chr2	7154885	7154885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattatgcaaagatataaaAagctacaatttgaaagaggt	21	10	7	3	0	0	3	0	1	0	2	0	3	0	3	0	1	3	2	0	1	10	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:7154885A>G	uc002qys.3	+	4	725	c.283A>G	c.(283-285)Aag>Gag	p.K95E		NM_014746	NP_055561	P50876	R144A_HUMAN	Homo sapiens ring finger protein 144A (RNF144A), mRNA.	95						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		AAGATATAAAAAGCTACAATT	0.368													G	7154885	A	G	7154885	3	3	76	1	0	0	0	0	1	0	0	0	13536	15	1	3	293	3	RNF144A	2	7154885	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08		7154885	236044488	10	4950											
THADA	63892	broad.mit.edu	37	chr2	43802136	43802136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgctaagattctagaCagaaacatttccagcgttgg	13	10	10	8	1	1	3	0	0	1	3	2	4	2	4	1	2	3	2	1	2	3	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:43802136C>T	uc002rsw.4	-	10	1420	c.1068G>A	c.(1066-1068)ctG>ctA	p.L356L	THADA_uc002rsx.4_Silent_p.L356L|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Silent_p.L66L|THADA_uc002rta.2_Silent_p.L66L|THADA_uc002rtb.1_Silent_p.L356L|THADA_uc002rtc.4_Silent_p.L356L|THADA_uc002rtd.3_Silent_p.L356L	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	356							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				AGATTCTAGACAGAAACATTT	0.373													T	43802136	C	T	43802136	2	4	76	1	0	0	0	0	0	0	0	1	15940	465	17	2		2	THADA	2	43802136	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	36647251	43802136	199397237	11	4951											
TTC30B	150737	broad.mit.edu	37	chr2	178416069	178416069	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaccaatggcttctttgtAtttgttttcctgcatgaaca	10	16	7	8	0	1	1	0	1	1	0	2	2	2	1	2	1	3	4	2	1	4	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:178416069A>T	uc002uln.3	-	0	1456	c.1423T>A	c.(1423-1425)Tac>Aac	p.Y475N	TTC30B_uc010zfc.1_Missense_Mutation_p.Y247N	NM_152517	NP_689730	Q8N4P2	TT30B_HUMAN	Homo sapiens tetratricopeptide repeat domain 30B (TTC30B), mRNA.	475					cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCTTCTTTGTATTTGTTTTCC	0.393													T	178416069	A	T	178416069	3	4	76	1	0	0	0	0	1	0	0	0	16801	449	16	5	578	5	TTC30B	2	178416069	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	134613933	178416069	64783304	12	4952											
MYO1B	4430	broad.mit.edu	37	chr2	192265141	192265141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgggaactgaagcatcaaAagcgctgtaaggaagcagtc	14	6	13	8	2	1	1	1	1	0	0	2	3	1	3	0	2	5	4	0	2	6	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:192265141A>G	uc010fsg.2	+	21	2584	c.2329A>G	c.(2329-2331)Aag>Gag	p.K777E	MYO1B_uc002usq.2_Missense_Mutation_p.K777E|MYO1B_uc002usr.2_Missense_Mutation_p.K777E|MYO1B_uc002usu.2_Missense_Mutation_p.K51E	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	777	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAAGCATCAAAAGCGCTGTAA	0.473													G	192265141	A	G	192265141	3	3	76	1	0	0	0	0	1	0	0	0	10145	15	1	3	2411	3	MYO1B	2	192265141	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13849072	192265141	50934232	13	4953											
DNAH7	56171	broad.mit.edu	37	chr2	196852773	196852773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatgattttctgcgaggaAgttatcaacatctcgctcag	11	13	8	9	2	4	1	2	1	2	0	5	3	4	2	0	1	2	2	0	1	4	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:196852773A>G	uc002utj.4	-	12	1635	c.1534T>C	c.(1534-1536)Ttc>Ctc	p.F512L		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	512	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTGCGAGGAAGTTATCAACA	0.338													G	196852773	A	G	196852773	3	3	76	1	0	0	0	0	1	0	0	0	4645	72	3	3	10752	3	DNAH7	2	196852773	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	4587632	196852773	46346600	14	4954											
CXCR1	3577	broad.mit.edu	37	chr2	219029097	219029097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggccgatgttgttgcGgcgctcacagctctcctgga	4	9	14	14	4	2	0	1	0	1	0	3	2	2	1	3	4	2	4	3	4	0	2	rs61755739		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:219029097G>A	uc021vwq.1	-	0	838	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	CXCR1_uc002vhc.3_Missense_Mutation_p.R280C|HV303425_uc021vwr.1_5'Flank	NM_000634	NP_000625	P25024	CXCR1_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 1 (CXCR1), mRNA.	280					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.R279C(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						ATGTTGTTGCGGCGCTCACAG	0.572													A	219029097	G	A	219029097	3	1	76	1	0	0	0	0	1	0	0	0	4123	1116	39	1	218	1	CXCR1	2	219029097	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	22176324	219029097	24170276	15	4955											
TRIP12	9320	broad.mit.edu	37	chr2	230724206	230724206	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtctttcttaggcacctgCcccgttttttgtctttctga	3	20	7	11	1	4	1	0	1	4	0	4	1	4	1	3	1	1	2	3	1	1	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr2:230724206C>T	uc002vpx.1	-	3	418	c.309G>A	c.(307-309)ggG>ggA	p.G103G	TRIP12_uc021vxw.1_Silent_p.G61G|TRIP12_uc002vpy.1_Intron|TRIP12_uc002vpw.1_Silent_p.G61G|TRIP12_uc010zlz.1_Non-coding_Transcript|TRIP12_uc010fxh.1_Silent_p.G61G	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	61					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TAGGCACCTGCCCCGTTTTTT	0.453													T	230724206	C	T	230724206	2	4	76	1	0	0	0	0	0	0	0	1	16657	726	26	2		2	TRIP12	2	230724206	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	11695109	230724206	12475167	16	4956											
RBMS3	27303	broad.mit.edu	37	chr3	30032579	30032579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgcctccttagggtgttGttgctgatacctctccccag	5	15	9	12	0	1	1	0	1	1	0	3	1	2	1	5	1	3	3	5	1	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:30032579G>T	uc003cel.3	+	13	1556	c.1186G>T	c.(1186-1188)Gtt>Ttt	p.V396F	RBMS3_uc010hfq.3_Missense_Mutation_p.V393F|RBMS3_uc003cek.3_Missense_Mutation_p.V380F|RBMS3_uc010hfr.3_Missense_Mutation_p.V380F|RBMS3_uc003cem.3_Missense_Mutation_p.V378F	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	396						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TTAGGGTGTTGTTGCTGATAC	0.493													T	30032579	G	T	30032579	3	4	76	1	0	0	0	0	1	0	0	0	13238	1377	48	4	1283	4	RBMS3	3	30032579	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		30032579	167989851	17	4957											
CLASP2	23122	broad.mit.edu	37	chr3	33584995	33584995	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagttagctggtgatcGtggtgttggtcttgtcaaag	7	13	15	6	1	2	1	1	1	1	0	3	2	2	2	1	4	1	3	1	4	2	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:33584995G>A	uc021wvc.1	-	31	3569	c.3358C>T	c.(3358-3360)Cga>Tga	p.R1120*	CLASP2_uc003cfs.3_Nonsense_Mutation_p.R319*|CLASP2_uc021wva.1_Nonsense_Mutation_p.R194*|CLASP2_uc021wvb.1_Nonsense_Mutation_p.R899*|CLASP2_uc011axt.1_Nonsense_Mutation_p.R712*	NM_015097	NP_055912	B2RTR1	B2RTR1_HUMAN	Homo sapiens cytoplasmic linker associated protein 2 (CLASP2), transcript variant 1, mRNA.	1121										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						GCTGGTGATCGTGGTGTTGGT	0.373													A	33584995	G	A	33584995	4	1	76	1	0	0	0	0	0	1	0	0	3486	1153	40	1	1218	1	CLASP2	3	33584995	Nonsense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	3552416	33584995	164437435	18	4958											
STAB1	23166	broad.mit.edu	37	chr3	52550236	52550236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgagctgggccgctacGggcccaactgcaccggaggt	6	7	16	12	3	0	1	0	1	0	0	0	2	0	2	3	4	4	3	3	4	2	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:52550236G>A	uc003dej.3	+	37	4200	c.4126G>A	c.(4126-4128)Ggg>Agg	p.G1376R	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1376	Laminin EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGGCCGCTACGGGCCCAACTG	0.697													A	52550236	G	A	52550236	3	1	76	1	0	0	0	0	1	0	0	0	15333	1116	39	1	4276	1	STAB1	3	52550236	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	18965241	52550236	145472194	19	4959											
FAM116A	201627	broad.mit.edu	37	chr3	57646541	57646541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccctggcactggggcAggccatcgatcaacatcatt	8	11	10	12	1	2	0	2	0	0	0	4	1	3	0	2	4	1	3	2	4	1	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:57646541A>G	uc003dja.3	-	6	716	c.645T>C	c.(643-645)ccT>ccC	p.P215P		NM_152678	NP_689891	Q8IWF6	F116A_HUMAN	Homo sapiens family with sequence similarity 116, member A (FAM116A), mRNA.	215										breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)	16				BRCA - Breast invasive adenocarcinoma(55;0.000621)|KIRC - Kidney renal clear cell carcinoma(284;0.0485)|Kidney(284;0.0607)		GCACTGGGGCAGGCCATCGAT	0.303													G	57646541	A	G	57646541	2	3	76	1	0	0	0	0	0	0	0	1	5452	175	7	3		3	FAM116A	3	57646541	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	5096305	57646541	140375889	20	4960											
C3orf67	200844	broad.mit.edu	37	chr3	58739528	58739528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttcacaggaatctggaCgctgctcagccggctgttga	9	10	11	11	2	3	1	2	1	1	0	3	3	3	3	1	3	3	4	1	3	2	2	rs139574013		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:58739528C>T	uc003dkt.1	-	14	1956	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H	C3orf67_uc003dkr.1_Non-coding_Transcript|C3orf67_uc003dks.1_Missense_Mutation_p.R457H	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	508										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		GGAATCTGGACGCTGCTCAGC	0.388													T	58739528	C	T	58739528	3	4	76	1	0	0	0	0	1	0	0	0	2262	536	19	1	152	1	C3orf67	3	58739528	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	1092987	58739528	139282902	21	4961											
PPP4R2	151987	broad.mit.edu	37	chr3	73114106	73114106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcatgaggtaaaaagaCtcaggtttgacaaagaaggt	16	7	14	4	0	1	4	1	2	0	2	1	4	1	4	0	5	0	3	0	5	5	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:73114106C>T	uc003dph.1	+	7	812	c.742C>T	c.(742-744)Ctc>Ttc	p.L248F	PPP4R2_uc003dpi.1_Missense_Mutation_p.L191F	NM_174907	NP_777567	Q9NY27	PP4R2_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 2 (PPP4R2), mRNA.	248					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity	p.R247T(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		GGTAAAAAGACTCAGGTTTGA	0.433													T	73114106	C	T	73114106	3	4	76	1	0	0	0	0	1	0	0	0	12486	565	20	2	772	2	PPP4R2	3	73114106	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	14374578	73114106	124908324	22	4962											
ABCC5	10057	broad.mit.edu	37	chr3	183667646	183667646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgtgatattgtccagaCgcttcagctcccgaatcagg	9	10	10	12	3	2	2	2	1	0	1	4	3	4	2	2	1	2	2	2	1	2	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183667646C>T	uc003fmg.3	-	21	3287	c.3122G>A	c.(3121-3123)cGt>cAt	p.R1041H	ABCC5_uc011bqt.2_Missense_Mutation_p.R569H|ABCC5_uc010hxl.3_Intron	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1041	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATTGTCCAGACGCTTCAGCTC	0.562													T	183667646	C	T	183667646	3	4	76	1	0	0	0	0	1	0	0	0	56	536	19	1	1227	1	ABCC5	3	183667646	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	110553540	183667646	14354784	23	4963											
HTR3E	285242	broad.mit.edu	37	chr3	183824315	183824315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcggaggcagagctgacagGgggctcagaatggacaaggg	11	4	19	7	1	1	3	1	1	0	2	1	5	1	5	0	6	2	3	0	6	2	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr3:183824315G>T	uc010hxr.3	+	6	1477	c.1283G>T	c.(1282-1284)gGg>gTg	p.G428V	HTR3E_uc010hxq.3_Missense_Mutation_p.G402V|HTR3E_uc003fml.4_Missense_Mutation_p.G387V|HTR3E_uc003fmm.3_Missense_Mutation_p.G417V|HTR3E_uc003fmn.3_Missense_Mutation_p.G402V	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	402						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.H428H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGCTGACAGGGGGCTCAGAA	0.612													T	183824315	G	T	183824315	3	4	76	1	0	0	0	0	1	0	0	0	7506	1232	43	4	1280	4	HTR3E	3	183824315	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	156669	183824315	14198115	24	4964											
RGS12	6002	broad.mit.edu	37	chr4	3427237	3427237	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcccctatatcgagtcTggacggacagcgggttgtct	6	10	14	11	4	2	0	0	0	2	0	3	3	2	2	2	4	1	1	2	4	2	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:3427237T>G	uc003ggw.3	+	13	4185	c.3281T>G	c.(3280-3282)cTg>cGg	p.L1094R	RGS12_uc003ggv.3_Missense_Mutation_p.L1094R|RGS12_uc003ggy.1_Missense_Mutation_p.L492R|RGS12_uc003ggz.3_Missense_Mutation_p.L446R|RGS12_uc010icu.1_Missense_Mutation_p.L293R|RGS12_uc011bvs.2_Missense_Mutation_p.L436R|RGS12_uc003gha.3_Missense_Mutation_p.L436R|RGS12_uc010icv.3_Missense_Mutation_p.L293R|RGS12_uc003ghb.2_Missense_Mutation_p.L293R	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1094	RBD 2.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATATCGAGTCTGGACGGACAG	0.572													G	3427237	T	G	3427237	3	3	76	1	0	0	0	0	1	0	0	0	13384	1580	55	5	3389	5	RGS12	4	3427237	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		3427237	187727039	25	4965											
CLNK	116449	broad.mit.edu	37	chr4	10567771	10567771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggactgcagcaaagtttcTttcctaagcaggtggtaaca	12	10	10	9	0	1	0	0	0	1	0	2	1	2	1	1	3	4	5	1	3	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:10567771T>C	uc003gmo.4	-	5	291	c.154A>G	c.(154-156)Aga>Gga	p.R52G	CLNK_uc003gmp.3_Missense_Mutation_p.R10G	NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	52					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GCAAAGTTTCTTTCCTAAGCA	0.458													C	10567771	T	C	10567771	3	2	76	1	0	0	0	0	1	0	0	0	3578	1617	56	3	1188	3	CLNK	4	10567771	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	7140534	10567771	180586505	26	4966											
CORIN	10699	broad.mit.edu	37	chr4	47625643	47625643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaatgaggacacagcCacagatatgtccactgggtt	11	9	11	10	0	0	2	0	1	0	1	1	3	1	3	2	3	1	2	2	3	2	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:47625643C>A	uc003gxm.3	-	18	2578	c.2485G>T	c.(2485-2487)Ggc>Tgc	p.G829C	CORIN_uc011bzf.2_Missense_Mutation_p.G690C|CORIN_uc011bzg.2_Missense_Mutation_p.G762C	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	829	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity	p.G829G(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						AGGACACAGCCACAGATATGT	0.527													A	47625643	C	A	47625643	3	1	76	1	0	0	0	0	1	0	0	0	3783	594	21	4	659	4	CORIN	4	47625643	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	37057872	47625643	143528633	27	4967											
PDHA2	5161	broad.mit.edu	37	chr4	96761557	96761557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacaaacagaaattcattCgcggtttctgtcacctgtgc	10	13	8	10	2	3	1	2	0	1	1	4	1	3	1	1	1	3	2	1	1	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:96761557C>T	uc003htr.4	+	0	319	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	86					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R86C(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GAAATTCATTCGCGGTTTCTG	0.517													T	96761557	C	T	96761557	3	4	76	1	0	0	0	0	1	0	0	0	11741	884	31	1	258	1	PDHA2	4	96761557	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	49135914	96761557	94392719	28	4968											
ENPEP	2028	broad.mit.edu	37	chr4	111464226	111464226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcttttgccttggcaaGgtgcgttttagaatgagact	8	15	12	6	1	0	3	0	2	0	2	0	4	0	3	1	2	3	3	1	2	3	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr4:111464226G>T	uc003iab.4	+	13	2342	c.2000_splice	c.e13+1	p.R667_splice		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	667					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GCCTTGGCAAGGTGCGTTTTA	0.328													T	111464226	G	T	111464226	3	4	76	1	0	0	0	0	1	0	0	0	5169	1014	35	4	2050	4	ENPEP	4	111464226	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	14702669	111464226	79690050	29	4969											
BRIX1	55299	broad.mit.edu	37	chr5	34924991	34924991	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcttgtagaaataggacctCgttttgtcttaaatctcata	11	16	6	8	1	3	1	1	0	3	1	5	2	3	2	1	1	0	2	1	1	6	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:34924991C>G	uc003jja.3	+	8	727	c.703C>G	c.(703-705)Cgt>Ggt	p.R235G		NM_018321	NP_060791	Q8TDN6	BRX1_HUMAN	Homo sapiens BRX1, biogenesis of ribosomes, homolog (S. cerevisiae) (BRIX1), mRNA.	235	Brix.				ribosome biogenesis|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|protein binding			central_nervous_system(1)|large_intestine(2)|lung(1)	4						AATAGGACCTCGTTTTGTCTT	0.358													G	34924991	C	G	34924991	3	3	76	1	0	0	0	0	1	0	0	0	1524	884	31	4	737	4	BRIX1	5	34924991	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08		34924991	145990269	30	4970											
CHSY3	337876	broad.mit.edu	37	chr5	129244015	129244015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagtaggaagatgcgttCgccgttttggtgggactcag	8	11	16	6	3	1	1	1	0	0	1	2	4	1	4	1	4	1	3	1	4	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:129244015C>T	uc003kvd.3	+	1	1048	c.1048C>T	c.(1048-1050)Cgc>Tgc	p.R350C		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	350						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		AAGATGCGTTCGCCGTTTTGG	0.438													T	129244015	C	T	129244015	3	4	76	1	0	0	0	0	1	0	0	0	3443	884	31	1	1054	1	CHSY3	5	129244015	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	94319024	129244015	51671245	31	4971											
CSNK1A1	1452	broad.mit.edu	37	chr5	148929730	148929730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggccttctgagattctagCttcactgccacttcctgcag	6	13	8	14	0	3	1	1	1	2	1	4	2	4	1	3	1	3	2	3	1	1	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr5:148929730C>T	uc003lqw.1	-	1	618	c.138G>A	c.(136-138)aaG>aaA	p.K46K	CSNK1A1_uc011dcc.2_5'UTR|CSNK1A1_uc003lqx.1_Silent_p.K46K|CSNK1A1_uc003lqy.1_Silent_p.K46K|CSNK1A1_uc010jha.1_Silent_p.K46K	NM_001025105	NP_001020276	P48729	KC1A_HUMAN	Homo sapiens casein kinase 1, alpha 1 (CSNK1A1), transcript variant 1, mRNA.	46	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GAGATTCTAGCTTCACTGCCA	0.502													T	148929730	C	T	148929730	2	4	76	1	0	0	0	0	0	0	0	1	3983	796	28	2		2	CSNK1A1	5	148929730	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	19685715	148929730	31985530	32	4972											
DSP	1832	broad.mit.edu	37	chr6	7569463	7569463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatcctgaaggacaacaaCgagcgcagcaagtggtacgt	13	7	12	9	3	0	1	0	1	0	0	1	3	1	2	1	2	5	4	1	2	6	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:7569463C>T	uc003mxp.1	+	11	1743	c.1464C>T	c.(1462-1464)aaC>aaT	p.N488N	DSP_uc003mxq.1_Silent_p.N488N|DSP_uc021yle.1_Silent_p.N488N	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	488	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGACAACAACGAGCGCAGCA	0.527													T	7569463	C	T	7569463	2	4	76	1	0	0	0	0	0	0	0	1	4820	535	19	1		1	DSP	6	7569463	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		7569463	163545604	33	4973											
SRPK1	6732	broad.mit.edu	37	chr6	35855829	35855829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaccggatttcatctagtGctgtttcagtgtaatgttca	9	15	9	8	1	4	0	3	0	1	0	4	1	4	1	1	1	2	5	1	1	3	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:35855829G>C	uc003olj.3	-	4	486	c.362C>G	c.(361-363)gCa>gGa	p.A121G	SRPK1_uc003olh.3_Missense_Mutation_p.A14G|SRPK1_uc003oli.3_Missense_Mutation_p.A14G|SRPK1_uc011dtg.2_Missense_Mutation_p.A105G	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	121	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCATCTAGTGCTGTTTCAGT	0.338													C	35855829	G	C	35855829	3	2	76	1	0	0	0	0	1	0	0	0	15255	1319	46	4	1653	4	SRPK1	6	35855829	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	28286366	35855829	135259238	34	4974											
CDKN1A	1026	broad.mit.edu	37	chr6	36652137	36652137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggggccccggcgaggccggGatgagttgggaggaggcagg	6	3	23	9	4	0	1	0	1	0	0	0	5	0	4	3	9	0	2	3	9	0	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:36652137G>A	uc021yzb.1	+	2	361	c.259G>A	c.(259-261)Gat>Aat	p.D87N	CDKN1A_uc021yzc.1_Missense_Mutation_p.D87N|CDKN1A_uc011dtq.2_Missense_Mutation_p.D121N|CDKN1A_uc003omm.4_Missense_Mutation_p.D87N|CDKN1A_uc003omn.3_Missense_Mutation_p.D87N	NM_078467	NP_510867	P38936	CDN1A_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 1A (p21, Cip1) (CDKN1A), transcript variant 2, mRNA.	87					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding	p.R86W(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						GCGAGGCCGGGATGAGTTGGG	0.657													A	36652137	G	A	36652137	3	1	76	1	0	0	0	0	1	0	0	0	3188	1174	41	2	261	2	CDKN1A	6	36652137	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	796308	36652137	134462930	35	4975											
PKHD1	5314	broad.mit.edu	37	chr6	51910848	51910848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgagtggaccaggacaagGtccacacgtgttcgtagcaa	11	8	12	10	2	1	1	0	1	1	0	3	3	2	3	2	3	1	3	2	3	3	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:51910848G>T	uc003pah.1	-	23	2822	c.2546C>A	c.(2545-2547)aCc>aAc	p.T849N	PKHD1_uc003pai.3_Missense_Mutation_p.T849N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	849					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCAGGACAAGGTCCACACGTG	0.463													T	51910848	G	T	51910848	3	4	76	1	0	0	0	0	1	0	0	0	12048	1261	44	4	9893	4	PKHD1	6	51910848	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	15258711	51910848	119204219	36	4976											
HCRTR2	3062	broad.mit.edu	37	chr6	55113582	55113582	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagacctggttttttggAcagtccctttgcaaagtgat	9	14	10	8	0	0	2	0	2	0	1	1	4	1	3	2	2	1	2	2	2	1	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:55113582A>G	uc003pcl.3	+	1	684	c.369A>G	c.(367-369)ggA>ggG	p.G123G	HCRTR2_uc010jzv.3_Non-coding_Transcript|HCRTR2_uc010jzw.1_Silent_p.G58G	NM_001526	NP_001517	O43614	OX2R_HUMAN	Homo sapiens hypocretin (orexin) receptor 2 (HCRTR2), mRNA.	123					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GGTTTTTTGGACAGTCCCTTT	0.428													G	55113582	A	G	55113582	2	3	76	1	0	0	0	0	0	0	0	1	7057	262	10	3		3	HCRTR2	6	55113582	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	3202734	55113582	116001485	37	4977											
SYNE1	23345	broad.mit.edu	37	chr6	152652051	152652051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaactctcattcattaggTtgatttcaggaaatgtaaca	14	13	7	7	0	3	2	3	1	1	1	4	3	3	3	0	2	2	2	0	2	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr6:152652051T>C	uc021zhb.1	-	75	13992	c.13769A>G	c.(13768-13770)aAc>aGc	p.N4590S	SYNE1_uc003qot.4_Missense_Mutation_p.N4519S|SYNE1_uc003qou.4_Missense_Mutation_p.N4590S|SYNE1_uc010kiz.3_Missense_Mutation_p.N345S	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4590					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)		ATTCATTAGGTTGATTTCAGG	0.353										HNSCC(10;0.0054)			C	152652051	T	C	152652051	3	2	76	1	0	0	0	0	1	0	0	0	15542	1725	60	3	12973	3	SYNE1	6	152652051	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	97538469	152652051	18463016	38	4978											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31126052	31126052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgtgttgtgtccaactacTtctggctgttcatcgagggc	6	14	11	10	1	2	0	1	0	1	0	4	1	3	0	1	2	2	3	1	2	2	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:31126052T>A	uc003tca.2	+	9	1013	c.724T>A	c.(724-726)Ttc>Atc	p.F242I	ADCYAP1R1_uc003tcg.3_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tce.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcb.2_Missense_Mutation_p.F221I|ADCYAP1R1_uc003tcc.2_Missense_Mutation_p.F242I|ADCYAP1R1_uc003tcf.1_5'Flank	NM_001118	NP_001109	P41586	PACR_HUMAN	Homo sapiens adenylate cyclase activating polypeptide 1 (pituitary) receptor type I (ADCYAP1R1), transcript variant 3, mRNA.	242					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCCAACTACTTCTGGCTGTT	0.542													A	31126052	T	A	31126052	3	1	76	1	0	0	0	0	1	0	0	0	303	1609	56	5	758	5	ADCYAP1R1	7	31126052	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		31126052	128012611	39	4979											
HECW1	23072	broad.mit.edu	37	chr7	43485123	43485123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcacgtggaaagaagcccGgaaggtctggaatcccccgt	10	5	15	11	3	1	1	0	0	1	1	2	4	2	4	3	5	1	1	3	5	4	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:43485123G>A	uc003tid.1	+	10	2957	c.2352G>A	c.(2350-2352)ccG>ccA	p.P784P	HECW1_uc011kbi.1_Silent_p.P784P	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	784					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.L784I(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AAAGAAGCCCGGAAGGTCTGG	0.612													A	43485123	G	A	43485123	2	1	76	1	0	0	0	0	0	0	0	1	7097	1103	39	1		1	HECW1	7	43485123	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	12359071	43485123	115653540	40	4980											
GNAT3	346562	broad.mit.edu	37	chr7	80091827	80091827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagacttaccacttcttcGtcttccacgaggaccatgtc	8	14	6	13	2	2	1	0	0	2	1	5	3	3	2	3	1	1	0	3	1	2	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80091827G>A	uc011kgu.2	-	5	711	c.711C>T	c.(709-711)gaC>gaT	p.D237D	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	237					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CCACTTCTTCGTCTTCCACGA	0.408													A	80091827	G	A	80091827	2	1	76	1	0	0	0	0	0	0	0	1	6569	1136	40	1		1	GNAT3	7	80091827	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	36606704	80091827	79046836	41	4981											
SEMA3C	10512	broad.mit.edu	37	chr7	80378254	80378254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtaacagccacttgAtagatgcctgcggagacttg	9	12	10	10	1	1	3	0	1	1	2	1	4	1	3	2	1	4	1	2	1	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:80378254A>G	uc011kgw.2	-	16	1935	c.1856T>C	c.(1855-1857)aTc>aCc	p.I619T	SEMA3C_uc003uhj.3_Missense_Mutation_p.I601T	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	601	Ig-like C2-type.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCCACTTGATAGATGCCTG	0.453													G	80378254	A	G	80378254	3	3	76	1	0	0	0	0	1	0	0	0	14119	333	12	3	461	3	SEMA3C	7	80378254	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	286427	80378254	78760409	42	4982											
CACNA2D1	781	broad.mit.edu	37	chr7	81635118	81635118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcttttaatatcttccaaaGacacatctactcccatcaca	13	13	2	13	0	4	1	1	0	3	1	6	1	6	1	2	0	1	0	2	0	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:81635118G>C	uc003uhr.1	-	16	1734	c.1478C>G	c.(1477-1479)tCt>tGt	p.S493C		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	493	Cache.					voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	ATCTTCCAAAGACACATCTAC	0.328													C	81635118	G	C	81635118	3	2	76	1	0	0	0	0	1	0	0	0	2574	942	33	4	1889	4	CACNA2D1	7	81635118	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	1256864	81635118	77503545	43	4983											
KEL	3792	broad.mit.edu	37	chr7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcacccagtattctccGaagtcggtttttgttctttg	5	18	7	11	2	3	0	1	0	2	0	6	1	4	0	3	1	0	3	3	1	2	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr7:142658027G>A	uc003wcb.3	-	3	598	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	130					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTATTCTCCGAAGTCGGTTT	0.502													A	142658027	G	A	142658027	3	1	76	1	0	0	0	0	1	0	0	0	8200	1057	37	1	1874	1	KEL	7	142658027	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	61022909	142658027	16480636	44	4984											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871955	1871955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagatctgggcgaccgacGttctttacagctgtgttcaa	8	11	12	10	3	3	1	1	0	2	1	3	3	3	1	1	2	2	4	1	2	2	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:1871955G>A	uc003wpr.3	+	20	2581	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	ARHGEF10_uc003wpq.1_Silent_p.T825T|ARHGEF10_uc003wps.3_Silent_p.T763T|ARHGEF10_uc003wpv.3_Silent_p.T534T|ARHGEF10_uc010lre.3_Silent_p.T481T	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	826					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		GGCGACCGACGTTCTTTACAG	0.488													A	1871955	G	A	1871955	2	1	76	1	0	0	0	0	0	0	0	1	897	1132	40	1		1	ARHGEF10	8	1871955	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		1871955	144492067	45	4985											
WRN	7486	broad.mit.edu	37	chr8	30977768	30977768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttctcagtgtgtcataGctaccatagcttttggaatg	8	17	9	7	0	2	0	2	0	1	0	3	1	2	1	1	1	3	3	1	1	4	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:30977768G>C	uc003xio.4	+	20	3246	c.2458G>C	c.(2458-2460)Gct>Cct	p.A820P	WRN_uc010lvk.3_Missense_Mutation_p.A287P	NM_000553	NP_000544	Q14191	WRN_HUMAN	Homo sapiens Werner syndrome, RecQ helicase-like (WRN), mRNA.	820	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		GTGTGTCATAGCTACCATAGC	0.353			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				C	30977768	G	C	30977768	3	2	76	1	0	0	0	0	1	0	0	0	17504	971	34	4	2536	4	WRN	8	30977768	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	29105813	30977768	115386254	46	4986											
SDC2	6383	broad.mit.edu	37	chr8	97614730	97614730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccacgacgctgaatataCagaacaagatacctgctcag	17	6	7	11	2	1	3	1	1	0	2	1	4	1	3	2	0	5	2	2	0	7	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:97614730C>G	uc003yhv.1	+	2	898	c.280C>G	c.(280-282)Cag>Gag	p.Q94E	SDC2_uc011lgu.1_Missense_Mutation_p.Q65E	NM_002998	NP_002989	P34741	SDC2_HUMAN	Homo sapiens syndecan 2 (SDC2), mRNA.	94						integral to plasma membrane	cytoskeletal protein binding|PDZ domain binding			breast(1)|cervix(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|stomach(2)	16	Breast(36;3.41e-05)				Sargramostim(DB00020)	GCTGAATATACAGAACAAGAT	0.423													G	97614730	C	G	97614730	3	3	76	1	0	0	0	0	1	0	0	0	14045	479	17	4	290	4	SDC2	8	97614730	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	66636962	97614730	48749292	47	4987											
RGS22	26166	broad.mit.edu	37	chr8	101059740	101059740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggatacaaaagctcccGcttccaaggcttttgagttg	10	11	9	11	1	0	1	0	1	0	0	2	2	2	2	3	2	2	4	3	2	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:101059740G>A	uc003yjb.1	-	10	1969	c.1774C>T	c.(1774-1776)Cgg>Tgg	p.R592W	RGS22_uc003yja.1_Missense_Mutation_p.R411W|RGS22_uc003yjc.1_Missense_Mutation_p.R580W|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.R496W	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	592					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R592W(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			AAAAGCTCCCGCTTCCAAGGC	0.383													A	101059740	G	A	101059740	3	1	76	1	0	0	0	0	1	0	0	0	13394	1086	38	1	2088	1	RGS22	8	101059740	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	3445010	101059740	45304282	48	4988											
FAM83A	84985	broad.mit.edu	37	chr8	124206323	124206323	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaagtcaggcaggaaattCgctggccaaatccgggagaa	13	5	13	10	2	1	1	1	0	0	1	3	3	2	2	3	4	0	2	3	4	4	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr8:124206323C>T	uc003ypv.3	+	3	2722	c.708C>T	c.(706-708)ttC>ttT	p.F236F	FAM83A_uc003ypw.3_Silent_p.F236F|FAM83A_uc003ypx.3_Silent_p.F236F|FAM83A_uc003ypy.3_Silent_p.F180F|FAM83A_uc003ypz.3_Silent_p.F236F	NM_032899	NP_116288	Q86UY5	FA83A_HUMAN	Homo sapiens family with sequence similarity 83, member A (FAM83A), transcript variant 1, mRNA.	236										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			GCAGGAAATTCGCTGGCCAAA	0.473													T	124206323	C	T	124206323	2	4	76	1	0	0	0	0	0	0	0	1	5683	883	31	1		1	FAM83A	8	124206323	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	23146583	124206323	22157699	49	4989											
OR13C8	138802	broad.mit.edu	37	chr9	107332231	107332231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcttcatgtacgcaaaGcctgagtctaaagcctctgt	10	13	7	11	1	5	1	1	1	4	0	5	1	5	1	2	0	3	2	2	0	4	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr9:107332231G>A	uc011lvo.2	+	0	783	c.783G>A	c.(781-783)aaG>aaA	p.K261K		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGTACGCAAAGCCTGAGTCTA	0.453													A	107332231	G	A	107332231	2	1	76	1	0	0	0	0	0	0	0	1	11014	962	34	2		2	OR13C8	9	107332231	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		107332231	33881200	50	4990											
CUBN	8029	broad.mit.edu	37	chr10	17083094	17083094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctaaaaatgtgtagtTcacagtgttgcctgttgttg	11	15	10	5	0	1	0	1	0	0	0	1	0	1	0	1	0	2	6	1	0	5	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:17083094T>C	uc001ioo.3	-	26	4007	c.3955A>G	c.(3955-3957)Aac>Gac	p.N1319D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1319	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATGTGTAGTTCACAGTGTTG	0.383													C	17083094	T	C	17083094	3	2	76	1	0	0	0	0	1	0	0	0	4084	1783	62	3	7080	3	CUBN	10	17083094	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		17083094	118451653	51	4991											
A1CF	29974	broad.mit.edu	37	chr10	52587910	52587910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggtttgatattgttgaaTtccttttcaatcatctcttc	7	20	5	9	0	3	2	2	2	1	0	6	2	4	2	2	1	0	2	2	1	3	8			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:52587910T>A	uc001jjj.3	-	6	938	c.750A>T	c.(748-750)gaA>gaT	p.E250D	A1CF_uc010qho.2_Missense_Mutation_p.E258D|A1CF_uc010qhn.2_Missense_Mutation_p.E258D|A1CF_uc009xov.3_Missense_Mutation_p.E250D|A1CF_uc001jji.3_Missense_Mutation_p.E250D|A1CF_uc001jjh.3_Missense_Mutation_p.E258D	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	250	RRM 3.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TATTGTTGAATTCCTTTTCAA	0.353													A	52587910	T	A	52587910	3	1	76	1	0	0	0	0	1	0	0	0	2	1490	52	5	1062	5	A1CF	10	52587910	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	35504816	52587910	82946837	52	4992											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692904	C	T	89692904	4	4	76	1	0	0	0	0	0	1	0	0	12823	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	37104994	89692904	45841843	53	4993											
OR51G1	79324	broad.mit.edu	37	chr11	4945014	4945014	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggccagcttcatgaTctccaggtgaagacaataag	14	7	11	9	0	2	4	1	2	1	2	3	4	2	4	2	2	2	2	2	2	3	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:4945014T>A	uc010qyr.2	-	0	556	c.556A>T	c.(556-558)Atc>Ttc	p.I186F		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCTTCATGATCTCCAGGTGA	0.522													A	4945014	T	A	4945014	3	1	76	1	0	0	0	0	1	0	0	0	11174	1435	50	5	411	5	OR51G1	11	4945014	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		4945014	130061502	54	4994											
FADS3	3995	broad.mit.edu	37	chr11	61646097	61646097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaagttccaccagtgggCggagaagccctgtggaggag	9	5	18	9	2	0	1	0	0	0	1	1	5	1	4	3	5	1	1	3	5	2	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:61646097C>G	uc001nsm.3	-	4	787	c.634G>C	c.(634-636)Gcc>Ccc	p.A212P		NM_021727	NP_068373	Q9Y5Q0	FADS3_HUMAN	Homo sapiens fatty acid desaturase 3 (FADS3), mRNA.	212					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACCAGTGGGCGGAGAAGCCC	0.667													G	61646097	C	G	61646097	3	3	76	1	0	0	0	0	1	0	0	0	5412	768	27	4	735	4	FADS3	11	61646097	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	56701083	61646097	73360419	55	4995											
DNAJC4	3338	broad.mit.edu	37	chr11	64001432	64001432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcacagccttctacaaCgaagcccgggcacgggccag	11	5	10	15	3	3	0	2	0	1	0	3	1	3	0	3	2	4	1	3	2	3	2	rs138996784	by1000genomes	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:64001432C>T	uc001nyt.3	+	4	1020	c.597C>T	c.(595-597)aaC>aaT	p.N199N	AX747192_uc001nyr.1_5'Flank|DNAJC4_uc001nys.3_Silent_p.N198N|DNAJC4_uc001nyu.3_Silent_p.N198N|VEGFB_uc001nyx.3_5'Flank|VEGFB_uc001nyw.3_5'Flank			Q9NNZ3	DNJC4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 4 (DNAJC4), mRNA.	198					protein folding|response to unfolded protein	integral to membrane|membrane fraction	heat shock protein binding|unfolded protein binding			endometrium(1)|lung(1)|prostate(1)	3						CCTTCTACAACGAAGCCCGGG	0.547													T	64001432	C	T	64001432	2	4	76	1	0	0	0	0	0	0	0	1	4688	535	19	1		1	DNAJC4	11	64001432	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	2355335	64001432	71005084	56	4996											
FAT3	120114	broad.mit.edu	37	chr11	92533806	92533806	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatgactttgccaaggatCgattcctcatagacagcaat	13	11	7	10	1	2	2	2	1	0	1	4	4	3	3	2	1	2	1	2	1	4	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:92533806C>T	uc001pdj.4	+	8	7644	c.7627C>T	c.(7627-7629)Cga>Tga	p.R2543*		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2543	Cadherin 23.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCCAAGGATCGATTCCTCAT	0.488										TCGA Ovarian(4;0.039)			T	92533806	C	T	92533806	4	4	76	1	0	0	0	0	0	1	0	0	5740	876	31	1	7661	1	FAT3	11	92533806	Nonsense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	28532374	92533806	42472710	57	4997											
CNTN5	53942	broad.mit.edu	37	chr11	99690432	99690432	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcacccagctggctaggGgcagctcagaattattattc	9	12	9	11	0	3	1	2	0	1	1	4	1	3	1	1	3	2	4	1	3	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:99690432G>T	uc001pga.3	+	3	717	c.213G>T	c.(211-213)ggG>ggT	p.G71G	CNTN5_uc009ywv.2_Silent_p.G71G|CNTN5_uc001pfz.3_Silent_p.G71G|CNTN5_uc021qpb.1_Silent_p.G71G|CNTN5_uc021qpc.1_Intron	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	71					cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GCTGGCTAGGGGCAGCTCAGA	0.433													T	99690432	G	T	99690432	2	4	76	1	0	0	0	0	0	0	0	1	3675	1219	43	4		4	CNTN5	11	99690432	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	7156626	99690432	35316084	58	4998											
CLDN25	644672	broad.mit.edu	37	chr11	113650596	113650596	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgggtctgctcctgtgttAccaccatcctgccccagtgg	4	11	11	15	0	1	0	0	0	1	0	3	0	3	0	6	2	3	3	6	2	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr11:113650596A>G	uc009yyw.1	+	0	79	c.79A>G	c.(79-81)Acc>Gcc	p.T27A		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	27						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CTCCTGTGTTACCACCATCCT	0.557													G	113650596	A	G	113650596	3	3	76	1	0	0	0	0	1	0	0	0	3516	391	14	3	81	3	CLDN25	11	113650596	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13960164	113650596	21355920	59	4999											
ACSM4	341392	broad.mit.edu	37	chr12	7476137	7476137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacctacacggcccttctGtttcttctctaaatatgtgg	9	14	6	12	1	3	0	0	0	3	0	4	0	3	0	2	2	2	1	2	2	5	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7476137G>C	uc001qsx.1	+	8	1289	c.1289G>C	c.(1288-1290)tGt>tCt	p.C430S		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	430					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						CGGCCCTTCTGTTTCTTCTCT	0.398													C	7476137	G	C	7476137	3	2	76	1	0	0	0	0	1	0	0	0	186	1377	48	4	1323	4	ACSM4	12	7476137	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		7476137	126375758	60	5000											
CD163	9332	broad.mit.edu	37	chr12	7636017	7636017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcactatggccccagcGtctggcaggacaatcccaca	11	6	8	16	1	2	0	1	0	1	0	3	1	3	1	3	3	1	1	3	3	2	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:7636017G>A	uc001qsz.3	-	11	3162	c.3034C>T	c.(3034-3036)Cgc>Tgc	p.R1012C	CD163_uc001qta.3_Missense_Mutation_p.R1012C|CD163_uc009zfw.2_Missense_Mutation_p.R1045C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	1012	SRCR 9.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGGCCCCAGCGTCTGGCAGGA	0.512													A	7636017	G	A	7636017	3	1	76	1	0	0	0	0	1	0	0	0	2997	1145	40	1	456	1	CD163	12	7636017	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	159880	7636017	126215878	61	5001											
KIAA1467	57613	broad.mit.edu	37	chr12	13208635	13208635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccagaacccgactcagAtgctgaggttgcagaggctg	10	6	14	11	2	1	4	1	1	0	3	1	5	1	4	2	2	4	4	2	2	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:13208635A>G	uc001rbi.3	+	1	211	c.188A>G	c.(187-189)gAt>gGt	p.D63G		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	63						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		CCCGACTCAGATGCTGAGGTT	0.562													G	13208635	A	G	13208635	3	3	76	1	0	0	0	0	1	0	0	0	8293	333	12	3	194	3	KIAA1467	12	13208635	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	5572618	13208635	120643260	62	5002											
PTPRB	5787	broad.mit.edu	37	chr12	70949924	70949924	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggttttgtatcttgtcAggctctaaaggaaacagagg	11	12	12	6	0	3	1	1	0	2	1	3	2	3	2	0	4	2	4	0	4	4	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr12:70949924A>G	uc001swb.4	-	16	4095	c.4065T>C	c.(4063-4065)ccT>ccC	p.P1355P	PTPRB_uc010sto.2_Silent_p.P1265P|PTPRB_uc010stp.2_Silent_p.P1265P|PTPRB_uc001swc.4_Silent_p.P1573P|PTPRB_uc001swa.4_Silent_p.P1485P	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1355	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTATCTTGTCAGGCTCTAAAG	0.438													G	70949924	A	G	70949924	2	3	76	1	0	0	0	0	0	0	0	1	12884	175	7	3		3	PTPRB	12	70949924	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	57741289	70949924	62901971	63	5003											
FSCB	84075	broad.mit.edu	37	chr14	44974610	44974610	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctctatagctgctagAagctgaatttcagcagaggc	11	9	12	9	0	2	3	1	1	1	2	2	4	2	4	1	2	5	4	1	2	5	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:44974610A>T	uc001wvn.3	-	0	1890	c.1581T>A	c.(1579-1581)ctT>ctA	p.L527L		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	527	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TAGCTGCTAGAAGCTGAATTT	0.493													T	44974610	A	T	44974610	2	4	76	1	0	0	0	0	0	0	0	1	6118	233	9	5		5	FSCB	14	44974610	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08		44974610	62374930	64	5004											
SYT16	83851	broad.mit.edu	37	chr14	62536340	62536340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacagctttggggatgaCgaagagctgtccacatcttc	10	10	11	10	1	2	2	1	1	1	1	4	4	3	3	1	2	3	2	1	2	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:62536340C>T	uc001xfu.1	+	1	740	c.543C>T	c.(541-543)gaC>gaT	p.D181D	SYT16_uc010tsd.1_Silent_p.D181D	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	181										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TTGGGGATGACGAAGAGCTGT	0.483													T	62536340	C	T	62536340	2	4	76	1	0	0	0	0	0	0	0	1	15569	535	19	1		1	SYT16	14	62536340	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08	17561730	62536340	44813200	65	5005											
SERPINA5	5104	broad.mit.edu	37	chr14	95054156	95054156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagtgccatgaagacgctgTacctggcagacactttccct	10	10	9	12	1	0	3	0	1	0	2	1	3	1	3	3	1	2	3	3	1	3	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr14:95054156T>C	uc001ydm.2	+	2	667	c.457T>C	c.(457-459)Tac>Cac	p.Y153H	SERPINA5_uc010ave.2_Missense_Mutation_p.Y153H|SERPINA5_uc001ydn.1_Missense_Mutation_p.Y153H	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	153					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GAAGACGCTGTACCTGGCAGA	0.537													C	95054156	T	C	95054156	3	2	76	1	0	0	0	0	1	0	0	0	14185	1638	57	3	459	3	SERPINA5	14	95054156	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	32517816	95054156	12295384	66	5006											
WDR72	256764	broad.mit.edu	37	chr15	53994476	53994476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaactttggtctaatttcGaagagagaccatgtggatag	12	12	10	7	1	1	2	0	0	1	2	3	5	2	3	2	2	1	0	2	2	4	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:53994476G>A	uc002acj.2	-	11	1466	c.1424C>T	c.(1423-1425)tCg>tTg	p.S475L	WDR72_uc010bfi.1_Missense_Mutation_p.S475L	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	475										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTCTAATTTCGAAGAGAGACC	0.383													A	53994476	G	A	53994476	3	1	76	1	0	0	0	0	1	0	0	0	17424	1059	37	1	1920	1	WDR72	15	53994476	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		53994476	48536916	67	5007											
HERC1	8925	broad.mit.edu	37	chr15	63948072	63948072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttctcttcagcaattcctCggagaaagctgggtagaaac	11	11	10	9	1	2	2	1	0	1	2	5	3	3	2	1	2	3	4	1	2	4	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr15:63948072C>T	uc002amp.3	-	49	10101	c.9953G>A	c.(9952-9954)cGa>cAa	p.R3318Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3318					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCAATTCCTCGGAGAAAGCT	0.448													T	63948072	C	T	63948072	3	4	76	1	0	0	0	0	1	0	0	0	7112	884	31	1	4748	1	HERC1	15	63948072	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	9953596	63948072	38583320	68	5008											
ACSM2B	348158	broad.mit.edu	37	chr16	20548638	20548638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcgaagtttggttcgtTgaattttccctgtgacagtc	6	17	10	8	2	1	2	0	2	1	0	5	3	2	2	1	1	0	3	1	1	2	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:20548638T>C	uc002dhj.4	-	14	1886	c.1676A>G	c.(1675-1677)cAa>cGa	p.Q559R	ACSM2B_uc002dhk.4_Missense_Mutation_p.Q559R	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	559					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TTTGGTTCGTTGAATTTTCCC	0.483													C	20548638	T	C	20548638	3	2	76	1	0	0	0	0	1	0	0	0	184	1812	63	3	61	3	ACSM2B	16	20548638	Missense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08		20548638	69806115	69	5009											
IL21R	50615	broad.mit.edu	37	chr16	27441407	27441407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcagcatgccgcgtggctgGgccgcccccttgctcctgct	2	9	13	17	3	1	0	1	0	0	0	2	0	2	0	5	2	4	4	5	2	0	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr16:27441407G>A	uc002dor.2	+	2	629	c.81G>A	c.(79-81)tgG>tgA	p.W27*	IL21R_uc002doq.2_Nonsense_Mutation_p.W5*|IL21R_uc002dos.2_Nonsense_Mutation_p.W5*	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	5					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CGCGTGGCTGGGCCGCCCCCT	0.716			T	BCL6	NHL								A	27441407	G	A	27441407	4	1	76	1	0	0	0	0	0	1	0	0	7729	1241	43	2	17	2	IL21R	16	27441407	Nonsense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	6892769	27441407	62913346	70	5010											
RILP	83547	broad.mit.edu	37	chr17	1551765	1551765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcctccgaggggcGcccgagctgctgcgcggcct	2	6	15	18	5	0	0	0	0	0	0	1	2	1	0	5	3	5	2	5	3	0	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:1551765G>T	uc002ftd.3	-	4	994	c.700C>A	c.(700-702)Cgc>Agc	p.R234S	SCARF1_uc002fsy.1_5'Flank|SCARF1_uc002fsz.1_5'Flank|SCARF1_uc002fta.1_5'Flank|SCARF1_uc010cjv.1_5'Flank	NM_031430	NP_113618	Q96NA2	RILP_HUMAN	Homo sapiens Rab interacting lysosomal protein (RILP), mRNA.	234					endosome to lysosome transport|protein transport	late endosome membrane|lysosomal membrane|phagocytic vesicle membrane	Rab GTPase binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)	15				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCCGAGGGGCGCCCGAGCTGC	0.637													T	1551765	G	T	1551765	3	4	76	1	0	0	0	0	1	0	0	0	13449	1087	38	4	521	4	RILP	17	1551765	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08		1551765	79643445	71	5011											
TP53	7157	broad.mit.edu	37	chr17	7577097	7577097	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcttcctctgtgcgccggtCtctcccaggacaggcacaaa	7	9	9	16	2	3	0	0	0	3	0	6	1	5	1	3	3	1	1	3	3	1	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7577097C>G	uc002gim.2	-	7	1035	c.841G>C	c.(841-843)Gac>Cac	p.D281H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149H|TP53_uc010cnf.1_Missense_Mutation_p.D149H|TP53_uc002gii.1_Missense_Mutation_p.D149H|TP53_uc010cni.1_Missense_Mutation_p.D281H|TP53_uc010cnh.1_Missense_Mutation_p.D281H|TP53_uc002gij.2_Missense_Mutation_p.D281H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281G(10)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.R280_D281delRD(4)|p.D281V(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.D281fs*63(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		GTGCGCCGGTCTCTCCCAGGA	0.547		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)			G	7577097	C	G	7577097	3	3	76	1	0	0	0	0	1	0	0	0	16482	913	32	4	445	4	TP53	17	7577097	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	6025332	7577097	73618113	72	5012											
KDM6B	23135	broad.mit.edu	37	chr17	7752755	7752755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaagccacccacagctcCagcccctccatcagctcctg	8	5	7	21	0	1	0	1	0	0	0	4	0	4	0	8	1	4	2	8	1	1	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:7752755C>T	uc002gix.3	+	0	1892	c.1055C>T	c.(1054-1056)cCa>cTa	p.P352L	KDM6B_uc002giw.1_Missense_Mutation_p.P1050L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	1050	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCCACAGCTCCAGCCCCTCCA	0.677													T	7752755	C	T	7752755	3	4	76	1	0	0	0	0	1	0	0	0	8196	594	21	2	3179	2	KDM6B	17	7752755	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	175658	7752755	73442455	73	5013											
GRB7	2886	broad.mit.edu	37	chr17	37902194	37902194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccaactctggttccaCgggcgcatttcccgtgagga	7	8	11	15	4	1	1	0	1	1	0	3	2	3	2	3	3	1	3	3	3	1	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:37902194C>A	uc002hsr.3	+	12	1574	c.1299C>A	c.(1297-1299)caC>caA	p.H433Q	GRB7_uc002hss.3_Missense_Mutation_p.H433Q|GRB7_uc021twu.1_Missense_Mutation_p.H456Q|GRB7_uc010cwc.3_Missense_Mutation_p.H433Q|GRB7_uc002hst.3_Intron	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	433	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			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)			TCTGGTTCCACGGGCGCATTT	0.617													A	37902194	C	A	37902194	3	1	76	1	0	0	0	0	1	0	0	0	6814	535	19	4	1345	4	GRB7	17	37902194	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	30149439	37902194	43293016	74	5014											
GSDMA	284110	broad.mit.edu	37	chr17	38133285	38133285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgcaggcctctctctcCttcagcagcttaccaaggcc	7	12	7	15	0	3	0	1	0	2	0	5	0	3	0	4	2	4	3	4	2	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:38133285C>T	uc002htl.1	+	11	1430	c.1312C>T	c.(1312-1314)Ctt>Ttt	p.L438F	GSDMA_uc002htm.1_Missense_Mutation_p.L438F	NM_178171	NP_835465	Q96QA5	GSDMA_HUMAN	Homo sapiens gasdermin A (GSDMA), mRNA.	438					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CCTCTCTCTCCTTCAGCAGCT	0.557													T	38133285	C	T	38133285	3	4	76	1	0	0	0	0	1	0	0	0	6871	681	24	2	1354	2	GSDMA	17	38133285	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	231091	38133285	43061925	75	5015											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262218	39262218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccacttgctatcgcccaaCctgtgtcatctccagctgcc	7	10	6	18	1	2	0	1	0	1	0	4	0	2	0	5	0	4	2	5	0	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:39262218C>A	uc010wfp.2	+	0	578	c.578C>A	c.(577-579)aCc>aAc	p.T193N		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	193						keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TATCGCCCAACCTGTGTCATC	0.647													A	39262218	C	A	39262218	3	1	76	1	0	0	0	0	1	0	0	0	8616	507	18	4	580	4	KRTAP4-9	17	39262218	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	1128933	39262218	41932992	76	5016											
MPO	4353	broad.mit.edu	37	chr17	56355275	56355275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcagcagggcccggcCgttgtcttggaagcgctggt	7	7	17	10	3	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:56355275C>T	uc002ivu.1	-	6	1294	c.1117G>A	c.(1117-1119)Ggc>Agc	p.G373S		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	373					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	AGGGCCCGGCCGTTGTCTTGG	0.652													T	56355275	C	T	56355275	3	4	76	1	0	0	0	0	1	0	0	0	9808	652	23	1	1144	1	MPO	17	56355275	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	17093057	56355275	24839935	77	5017											
DNAH17	8632	broad.mit.edu	37	chr17	76420030	76420030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgccaggatccacttcGctgccttctctttggtcttc	3	14	9	15	2	2	0	0	0	2	0	6	1	3	1	3	3	2	2	3	3	0	4	rs143246806	byFrequency	TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr17:76420030G>A	uc010dhp.2	-	80	13471	c.13346C>T	c.(13345-13347)gCg>gTg	p.A4449V	PGS1_uc002jvm.3_Intron|PGS1_uc010wtt.2_Intron|PGS1_uc010dho.3_Intron|PGS1_uc002jvn.3_Intron|PGS1_uc002jvo.3_Intron|DNAH17_uc002jvq.3_Missense_Mutation_p.A734V|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACTTCGCTGCCTTCTC	0.567													A	76420030	G	A	76420030	3	1	76	1	0	0	0	0	1	0	0	0	4640	1087	38	1	46	1	DNAH17	17	76420030	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	20064755	76420030	4775180	78	5018											
TCF4	6925	broad.mit.edu	37	chr18	52921829	52921829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccaatgattccatgcatgtCcccatgaccaccaggcatag	11	9	7	14	0	0	2	0	2	0	0	3	2	3	2	6	1	1	2	6	1	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:52921829C>T	uc002lga.3	-	15	1615	c.1555G>A	c.(1555-1557)Gac>Aac	p.D519N	TCF4_uc021ukg.1_Missense_Mutation_p.D257N|TCF4_uc021ukh.1_Missense_Mutation_p.D257N|TCF4_uc002lfw.4_Missense_Mutation_p.D257N|TCF4_uc010xdu.1_Missense_Mutation_p.D287N|TCF4_uc010xdv.1_Missense_Mutation_p.D287N|TCF4_uc021uki.1_Missense_Mutation_p.D346N|TCF4_uc002lfx.2_Missense_Mutation_p.D346N|TCF4_uc010xdw.1_Missense_Mutation_p.D287N|TCF4_uc002lfy.2_Missense_Mutation_p.D375N|TCF4_uc010xdx.1_Missense_Mutation_p.D393N|TCF4_uc021ukj.1_Missense_Mutation_p.D357N|TCF4_uc021ukk.1_Missense_Mutation_p.D357N|TCF4_uc021ukl.1_Missense_Mutation_p.D414N|TCF4_uc002lfz.2_Missense_Mutation_p.D417N|TCF4_uc010dph.1_Missense_Mutation_p.D417N|TCF4_uc010dpi.3_Missense_Mutation_p.D423N|TCF4_uc010xdy.1_Missense_Mutation_p.D393N	NM_001243226	NP_001230155	P15884	ITF2_HUMAN	Homo sapiens transcription factor 4 (TCF4), transcript variant 3, mRNA.	417					positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CCATGCATGTCCCCATGACCA	0.502													T	52921829	C	T	52921829	3	4	76	1	0	0	0	0	1	0	0	0	15795	855	30	2	786	2	TCF4	18	52921829	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08		52921829	25155419	79	5019											
SOCS6	9306	broad.mit.edu	37	chr18	67992070	67992070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatatggccagctgcgatAtcaacggtgaagatgaaaaa	17	7	11	6	2	1	4	1	2	0	2	1	5	1	4	1	2	3	1	1	2	7	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr18:67992070A>G	uc002lkr.1	+	1	482	c.166A>G	c.(166-168)Atc>Gtc	p.I56V	SOCS6_uc010dqq.2_Missense_Mutation_p.I56V|SOCS6_uc021ulj.1_Missense_Mutation_p.I56V	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	56					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)				CAGCTGCGATATCAACGGTGA	0.428													G	67992070	A	G	67992070	3	3	76	1	0	0	0	0	1	0	0	0	15012	449	16	3	168	3	SOCS6	18	67992070	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	15070241	67992070	10085178	80	5020											
HMHA1	23526	broad.mit.edu	37	chr19	1083208	1083208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatcgtgttcgggcccacGctgcttcggccacggcccac	4	7	13	17	5	0	0	0	0	0	0	3	0	0	0	3	4	1	4	3	4	0	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:1083208G>A	uc002lqz.1	+	20	3042	c.2811G>A	c.(2809-2811)acG>acA	p.T937T	HMHA1_uc010xgd.1_Silent_p.T953T|HMHA1_uc010xge.1_Silent_p.T805T|HMHA1_uc002lra.1_Silent_p.T777T|HMHA1_uc002lrb.1_Silent_p.T820T|HMHA1_uc002lrc.1_Silent_p.T572T	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	937	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TCGGGCCCACGCTGCTTCGGC	0.672													A	1083208	G	A	1083208	2	1	76	1	0	0	0	0	0	0	0	1	7295	1074	38	1		1	HMHA1	19	1083208	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08		1083208	58045775	81	5021											
FARSA	2193	broad.mit.edu	37	chr19	13035595	13035595	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggaatacgcggtcgatggaGaagtacttgaccggagtgaa	12	7	15	7	5	0	3	0	2	0	1	1	7	0	5	1	4	2	1	1	4	5	3			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr19:13035595G>A	uc002mvs.2	-	9	1101	c.1053C>T	c.(1051-1053)ttC>ttT	p.F351F	FARSA_uc010xmv.1_Silent_p.F320F	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	351					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	GGTCGATGGAGAAGTACTTGA	0.612													A	13035595	G	A	13035595	2	1	76	1	0	0	0	0	0	0	0	1	5728	933	33	2		2	FARSA	19	13035595	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	11952387	13035595	46093388	82	5022											
PCSK2	5126	broad.mit.edu	37	chr20	17434509	17434509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcaactcagccatcaaCgacggcaggactgccctgta	11	7	8	15	2	3	0	3	0	0	0	4	2	4	1	3	2	4	2	3	2	3	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:17434509C>T	uc002wpm.3	+	8	1362	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	PCSK2_uc002wpl.3_Silent_p.N317N|PCSK2_uc010zrm.2_Silent_p.N301N	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	336	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCCATCAACGACGGCAGGA	0.617													T	17434509	C	T	17434509	2	4	76	1	0	0	0	0	0	0	0	1	11677	535	19	1		1	PCSK2	20	17434509	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		17434509	45591011	83	5023											
PRIC285	85441	broad.mit.edu	37	chr20	62198633	62198633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgcatgtggtcgcccGccagcacgaggcgggtgccg	5	6	16	14	5	0	1	0	1	0	0	1	2	0	1	4	3	3	2	4	3	0	0			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr20:62198633G>A	uc002yfm.2	-	6	2970	c.2078C>T	c.(2077-2079)gCg>gTg	p.A693V	PRIC285_uc002yfl.1_Missense_Mutation_p.A124V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	693					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding	p.L692L(1)		NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			GTGGTCGCCCGCCAGCACGAG	0.682													A	62198633	G	A	62198633	3	1	76	1	0	0	0	0	1	0	0	0	12571	1087	38	1	5927	1	PRIC285	20	62198633	Missense_Mutation	SNP	G	TCGA-06-2558-01A-01D-1494-08	44764124	62198633	826887	84	5024											
SAMSN1	64092	broad.mit.edu	37	chr21	15858270	15858270	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataataatcttatgtaccAtgtcagacagattttcagac	14	14	6	7	0	3	4	2	1	1	3	3	4	3	4	1	0	1	1	1	0	4	6			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chr21:15858270A>T	uc002yju.1	-	7	1167	c.1085T>A	c.(1084-1086)aTg>aAg	p.M362K	SAMSN1_uc010gky.1_Missense_Mutation_p.M194K|SAMSN1_uc002yjv.1_Missense_Mutation_p.M430K	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	362					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CTTATGTACCATGTCAGACAG	0.398													T	15858270	A	T	15858270	3	4	76	1	0	0	0	0	1	0	0	0	13921	217	8	5	40	5	SAMSN1	21	15858270	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08		15858270	32271625	85	5025											
PIR	8544	broad.mit.edu	37	chrX	15509315	15509315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatgcttctccggaccctCgctccaaccccttccgactg	6	9	6	20	3	1	0	0	0	1	0	5	2	3	1	7	1	2	2	7	1	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:15509315C>T	uc004cwu.3	-	1	551	c.66G>A	c.(64-66)gcG>gcA	p.A22A	FIGF_uc022bth.1_Non-coding_Transcript|PIR_uc004cwv.3_Silent_p.A22A|BMX_uc004cww.3_Intron	NM_003662	NP_003653	O00625	PIR_HUMAN	Homo sapiens pirin (iron-binding nuclear protein) (PIR), transcript variant 1, mRNA.	22					transcription from RNA polymerase II promoter	cytoplasm|nucleus	metal ion binding|protein binding|quercetin 2,3-dioxygenase activity|transcription cofactor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9	Hepatocellular(33;0.183)					TCCGGACCCTCGCTCCAACCC	0.522													T	15509315	C	T	15509315	2	4	76	1	0	0	0	0	0	0	0	1	12021	871	31	1		1	PIR	23	15509315	Silent	SNP	C	TCGA-06-2558-01A-01D-1494-08		15509315	139761245	86	5026											
KLHL34	257240	broad.mit.edu	37	chrX	21675201	21675201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccagagcccgagtacaCgcgccgcagtacgtcggcgg	8	3	16	14	7	0	1	0	0	0	1	1	3	0	1	3	3	3	3	3	3	2	2			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:21675201C>T	uc004czz.1	-	0	1248	c.706G>A	c.(706-708)Gtg>Atg	p.V236M		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	236	BACK.							p.V236M(2)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCGAGTACACGCGCCGCAGT	0.667													T	21675201	C	T	21675201	3	4	76	1	0	0	0	0	1	0	0	0	8445	536	19	1	1232	1	KLHL34	23	21675201	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	6165886	21675201	133595359	87	5027											
FAM47B	170062	broad.mit.edu	37	chrX	34962438	34962438	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaccgatcaagaccaaaAgattaagaaggcaaacgagt	21	4	8	8	2	1	3	1	0	0	3	1	5	1	3	2	1	3	1	2	1	8	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:34962438A>T	uc004ddi.2	+	0	1526	c.1490A>T	c.(1489-1491)aAg>aTg	p.K497M		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	497										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CAAGACCAAAAGATTAAGAAG	0.468													T	34962438	A	T	34962438	3	4	76	1	0	0	0	0	1	0	0	0	5621	72	3	5	1492	5	FAM47B	23	34962438	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	13287237	34962438	120308122	88	5028											
CXorf27	25763	broad.mit.edu	37	chrX	37850145	37850145	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaataacaaccagactcAagacccttctagaaatgagc	18	7	5	11	0	2	4	1	1	1	3	2	4	2	4	2	0	4	0	2	0	7	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:37850145A>T	uc004ddt.4	+	0	76	c.53A>T	c.(52-54)cAa>cTa	p.Q18L		NM_012274	NP_036406	O75409	HYPM_HUMAN	Homo sapiens chromosome X open reading frame 27 (CXorf27), mRNA.	18							DNA binding			central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)	8						AACCAGACTCAAGACCCTTCT	0.458													T	37850145	A	T	37850145	3	4	76	1	0	0	0	0	1	0	0	0	4138	130	5	5	55	5	CXorf27	23	37850145	Missense_Mutation	SNP	A	TCGA-06-2558-01A-01D-1494-08	2887707	37850145	117420415	89	5029											
BCOR	54880	broad.mit.edu	37	chrX	39921626	39921626	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgggctccggccgcttTctgaatctccggacagtcac	7	9	11	14	3	3	1	1	1	2	0	5	3	4	2	3	3	1	2	3	3	2	1			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:39921626T>C	uc004den.4	-	9	4486	c.4194A>G	c.(4192-4194)agA>agG	p.R1398R	BCOR_uc004dep.4_Silent_p.R1364R|BCOR_uc004deo.4_Silent_p.R1346R|BCOR_uc010nhb.3_Silent_p.R106R|BCOR_uc004dem.4_Silent_p.R1364R	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1398					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGCCGCTTTCTGAATCTCC	0.587			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						C	39921626	T	C	39921626	2	2	76	1	0	0	0	0	0	0	0	1	1391	1780	62	3		3	BCOR	23	39921626	Silent	SNP	T	TCGA-06-2558-01A-01D-1494-08	2071481	39921626	115348934	90	5030											
DGKK	139189	broad.mit.edu	37	chrX	50134485	50134485	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgttgaggatgtccagAggtgacttgcttttgttcca	7	15	11	8	0	1	3	0	2	1	1	3	4	3	4	2	2	1	3	2	2	0	5			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:50134485A>C	uc010njr.2	-	10	1838	c.1794T>G	c.(1792-1794)ccT>ccG	p.P598P		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	598	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GGATGTCCAGAGGTGACTTGC	0.537													C	50134485	A	C	50134485	2	2	76	1	0	0	0	0	0	0	0	1	4511	291	11	5		5	DGKK	23	50134485	Silent	SNP	A	TCGA-06-2558-01A-01D-1494-08	10212859	50134485	105136075	91	5031											
NAP1L2	4674	broad.mit.edu	37	chrX	72433530	72433530	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatatctgtcaggagctTcagaataggctcatcatatt	12	15	7	7	0	5	1	4	0	1	1	5	2	5	2	0	2	1	2	0	2	5	7			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:72433530T>A	uc004ebi.3	-	0	1181	c.799A>T	c.(799-801)Aag>Tag	p.K267*		NM_021963	NP_068798	Q9ULW6	NP1L2_HUMAN	Homo sapiens nucleosome assembly protein 1-like 2 (NAP1L2), mRNA.	267					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					GTCAGGAGCTTCAGAATAGGC	0.368													A	72433530	T	A	72433530	4	1	76	1	0	0	0	0	0	1	0	0	10233	1792	62	5	587	5	NAP1L2	23	72433530	Nonsense_Mutation	SNP	T	TCGA-06-2558-01A-01D-1494-08	22299045	72433530	82837030	92	5032											
PCDH11X	27328	broad.mit.edu	37	chrX	91132696	91132696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctggcatccagttgaCgaaagtaagtgcaatggatg	11	10	11	9	1	1	1	0	1	1	0	3	3	2	2	2	2	1	4	2	2	3	2	rs62621113		TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:91132696C>T	uc004efk.2	+	1	2302	c.1457C>T	c.(1456-1458)aCg>aTg	p.T486M	PCDH11X_uc004efl.2_Missense_Mutation_p.T486M|PCDH11X_uc010nmv.2_Missense_Mutation_p.T486M|PCDH11X_uc004efm.2_Missense_Mutation_p.T486M|PCDH11X_uc004efn.2_Missense_Mutation_p.T486M|PCDH11X_uc004efo.2_Missense_Mutation_p.T486M|PCDH11X_uc004efh.2_Missense_Mutation_p.T486M|PCDH11X_uc004efj.1_Missense_Mutation_p.T486M	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	486	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATCCAGTTGACGAAAGTAAGT	0.438													T	91132696	C	T	91132696	3	4	76	1	0	0	0	0	1	0	0	0	11584	536	19	1	1463	1	PCDH11X	23	91132696	Missense_Mutation	SNP	C	TCGA-06-2558-01A-01D-1494-08	18699166	91132696	64137864	93	5033											
FAM70A	55026	broad.mit.edu	37	chrX	119410875	119410875	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacatcgatgtattcGtagtacccaccagtgatctc	9	12	8	12	2	1	2	0	2	1	0	4	3	1	2	2	0	2	4	2	0	3	4			TCGA-06-2558-01A-01D-1494-08	TCGA-06-2558-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19f41e2f-cff9-4f04-ba65-6d945bf05edd	a699d990-8181-471d-8b54-4b71171c9142	g.chrX:119410875G>A	uc004eso.4	-	7	839	c.612C>T	c.(610-612)taC>taT	p.Y204Y	FAM70A_uc004esp.4_Silent_p.Y180Y|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	204						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CGATGTATTCGTAGTACCCAC	0.582													A	119410875	G	A	119410875	2	1	76	1	0	0	0	0	0	0	0	1	5655	1140	40	1		1	FAM70A	23	119410875	Silent	SNP	G	TCGA-06-2558-01A-01D-1494-08	28278179	119410875	35859685	94	5034											
MTHFR	4524	broad.mit.edu	37	chr1	11861244	11861244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgccatgatgttcttcAggcccagctgcttagctttg	6	12	11	12	1	2	1	1	1	1	0	2	1	2	1	2	1	4	5	2	1	1	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:11861244A>G	uc001atb.1	-	1	716	c.518T>C	c.(517-519)cTg>cCg	p.L173P	MTHFR_uc001atc.2_Missense_Mutation_p.L150P	NM_005957	NP_005948	P42898	MTHR_HUMAN	Homo sapiens methylenetetrahydrofolate reductase (NAD(P)H) (MTHFR), mRNA.	150					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATGTTCTTCAGGCCCAGCTG	0.602													G	11861244	A	G	11861244	3	3	77	1	0	0	0	0	1	0	0	0	10007	188	7	3	1561	3	MTHFR	1	11861244	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08		11861244	237389377	1	5035											
IFI6	2537	broad.mit.edu	37	chr1	27992966	27992966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccaatattacctatgaCgacgctgctgccaccagccc	10	7	8	16	2	0	1	0	1	0	0	0	2	0	1	5	1	4	3	5	1	4	3	rs74937564		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:27992966C>T	uc001bon.1	-	4	466	c.343G>A	c.(343-345)Gtc>Atc	p.V115I	IFI6_uc001boo.1_Missense_Mutation_p.V107I|IFI6_uc001bop.1_Missense_Mutation_p.V111I	NM_022873	NP_075011	P09912	IFI6_HUMAN	Homo sapiens interferon, alpha-inducible protein 6 (IFI6), transcript variant 3, mRNA.	107					anti-apoptosis|negative regulation of caspase activity|negative regulation of mitochondrial depolarization|release of cytochrome c from mitochondria|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion	protein binding			lung(1)|ovary(1)	2		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;7.75e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTATGACGACGCTGCTG	0.542													T	27992966	C	T	27992966	3	4	77	1	0	0	0	0	1	0	0	0	7577	536	19	1	77	1	IFI6	1	27992966	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	16131722	27992966	221257655	2	5036											
LRRC40	55631	broad.mit.edu	37	chr1	70641517	70641517	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatcattgttgcttaggTcaagcctttccaaggaccgt	10	14	8	9	1	2	0	2	0	0	0	3	1	3	1	3	2	2	2	3	2	5	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:70641517T>G	uc001der.2	-	6	1091	c.953A>C	c.(952-954)gAc>gCc	p.D318A		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	318										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						GTTGCTTAGGTCAAGCCTTTC	0.289													G	70641517	T	G	70641517	3	3	77	1	0	0	0	0	1	0	0	0	9068	1667	58	5	891	5	LRRC40	1	70641517	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	42648551	70641517	178609104	3	5037											
NEXN	91624	broad.mit.edu	37	chr1	78392171	78392171	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggaaaaatgaaaaagAattttgaggatctagaaaaa	21	9	8	3	0	2	4	0	2	2	2	2	6	2	6	0	2	0	0	0	2	8	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:78392171A>T	uc001dic.4	+	6	859	c.562A>T	c.(562-564)Aat>Tat	p.N188Y	NEXN_uc001dia.3_Missense_Mutation_p.N174Y|NEXN_uc009wcb.1_Missense_Mutation_p.N110Y|NEXN_uc001dib.4_Missense_Mutation_p.N124Y|NEXN_uc001did.1_Missense_Mutation_p.N98Y|NEXN_uc001dif.1_Missense_Mutation_p.N80Y	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	188	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AATGAAAAAGAATTTTGAGGA	0.313													T	78392171	A	T	78392171	3	4	77	1	0	0	0	0	1	0	0	0	10431	246	9	5	584	5	NEXN	1	78392171	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	7750654	78392171	170858450	4	5038											
WDR63	126820	broad.mit.edu	37	chr1	85560129	85560129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagggctaatagctgtgtCggtagccgtgcgactttctt	7	13	12	9	3	2	0	1	0	1	0	3	1	2	0	1	2	3	3	1	2	3	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:85560129C>T	uc001dkt.3	+	9	1255	c.1064C>T	c.(1063-1065)tCg>tTg	p.S355L	WDR63_uc009wcl.3_Missense_Mutation_p.S316L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	355										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATAGCTGTGTCGGTAGCCGTG	0.418													T	85560129	C	T	85560129	3	4	77	1	0	0	0	0	1	0	0	0	17416	893	31	1	1098	1	WDR63	1	85560129	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	7167958	85560129	163690492	5	5039											
HRNR	388697	broad.mit.edu	37	chr1	152192836	152192836	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctggccgtggcctggAgactggccagatccagagct	7	6	14	14	2	0	3	0	0	0	3	1	4	1	3	5	4	1	2	5	4	0	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:152192836A>G	uc001ezt.1	-	2	1345	c.1269T>C	c.(1267-1269)tcT>tcC	p.S423S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	423					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGGCCTGGAGACTGGCCAG	0.617													G	152192836	A	G	152192836	2	3	77	1	0	0	0	0	0	0	0	1	7414	291	11	3		3	HRNR	1	152192836	Silent	SNP	A	TCGA-06-2559-01A-01D-1494-08	66632707	152192836	97057785	6	5040											
SPTA1	6708	broad.mit.edu	37	chr1	158654966	158654966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctccatgatccacttccCcagatcatctgcatctcgct	7	14	4	16	1	4	2	1	1	3	1	8	2	6	2	4	0	1	2	4	0	0	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr1:158654966C>T	uc001fst.1	-	1	395	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	66					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.L65M(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCACTtccccagatcatct	0.453													T	158654966	C	T	158654966	3	4	77	1	0	0	0	0	1	0	0	0	15212	623	22	2	7267	2	SPTA1	1	158654966	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	6462130	158654966	90595655	7	5041											
LTBP1	4052	broad.mit.edu	37	chr2	33335817	33335817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttgcggcaccttttcaGcgtgagtatagtcttatcaa	10	13	9	9	2	3	1	2	1	1	0	3	1	3	1	1	1	2	3	1	1	5	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:33335817G>A	uc021vft.1	+	4	1056	c.1033_splice	c.e4+1	p.L345_splice		NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	345					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CACCTTTTCAGCGTGAGTATA	0.423													A	33335817	G	A	33335817	2	1	77	1	0	0	0	0	0	0	0	1	9143	985	34	2		2	LTBP1	2	33335817	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		33335817	209863556	8	5042											
KRCC1	51315	broad.mit.edu	37	chr2	88327482	88327482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacggtttctatttccacctCtgttttctttctttggatgc	4	21	6	10	1	4	0	0	0	4	0	5	1	5	1	2	2	2	2	2	2	2	8			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:88327482C>T	uc002sso.1	-	3	995	c.601G>A	c.(601-603)Gag>Aag	p.E201K	KRCC1_uc002ssp.1_Missense_Mutation_p.E201K|KRCC1_uc021vko.1_Missense_Mutation_p.E201K	NM_016618	NP_057702	Q9NPI7	KRCC1_HUMAN	Homo sapiens lysine-rich coiled-coil 1 (KRCC1), mRNA.	201	Lys-rich.									cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						ATTTCCACCTCTGTTTTCTTT	0.398													T	88327482	C	T	88327482	3	4	77	1	0	0	0	0	1	0	0	0	8499	922	32	2	182	2	KRCC1	2	88327482	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	54991665	88327482	154871891	9	5043											
IL18RAP	8807	broad.mit.edu	37	chr2	103057838	103057838	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacactggaagtagaacttgGtaagctgggcctcatcgcct	10	9	11	11	1	1	1	1	0	0	1	2	2	1	2	2	3	2	3	2	3	4	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:103057838G>T	uc002tbx.3	+	7	1280	c.796_splice	c.e7+1	p.G266_splice	IL18RAP_uc010fiz.3_Splice_Site_p.G124_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	266	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GTAGAACTTGGTAAGCTGGGC	0.433													T	103057838	G	T	103057838	5	4	77	1	0	0	0	0	0	0	1	0	7706	1275	44	4	815	4	IL18RAP	2	103057838	Splice_Site	SNP	G	TCGA-06-2559-01A-01D-1494-08	14730356	103057838	140141535	10	5044											
LRP2	4036	broad.mit.edu	37	chr2	170009381	170009381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtcaacttcctgcacaAgattattgcggccggattca	10	11	9	11	2	3	1	3	0	0	1	4	2	4	2	2	3	3	1	2	3	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170009381A>G	uc002ues.3	-	66	12602	c.12389T>C	c.(12388-12390)cTt>cCt	p.L4130P		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4130					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.N4129N(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCCTGCACAAGATTATTGCG	0.478													G	170009381	A	G	170009381	3	3	77	1	0	0	0	0	1	0	0	0	9026	72	3	3	1630	3	LRP2	2	170009381	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	66951543	170009381	73189992	11	5045											
LRP2	4036	broad.mit.edu	37	chr2	170101420	170101420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccatggccacaggtgaaCgccgaagatgaacaggtatt	12	7	11	11	2	0	3	0	2	0	1	1	4	1	3	4	3	2	1	4	3	4	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170101420C>T	uc002ues.3	-	21	3426	c.3213G>A	c.(3211-3213)gcG>gcA	p.A1071A	LRP2_uc010zdf.1_Silent_p.A934A	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1071	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.S1070L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CACAGGTGAACGCCGAAGATG	0.473													T	170101420	C	T	170101420	2	4	77	1	0	0	0	0	0	0	0	1	9026	523	19	1		1	LRP2	2	170101420	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	92039	170101420	73097953	12	5046											
UBR3	130507	broad.mit.edu	37	chr2	170929938	170929940	+	In_Frame_Del	DEL	GAA	GAA	-																															tcctatttcatgtctaaaagGaagaagaagaattttcagtt																										TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:170929938_170929940delGAA	uc010zdi.2	+	35	5020_5022	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_In_Frame_Del_p.E498del|UBR3_uc002uft.4_In_Frame_Del_p.E534del|UBR3_uc010zdj.2_In_Frame_Del_p.E368del|UBR3_uc002ufu.4_In_Frame_Del_p.E183del	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379													-	170929940	GAA	-	170929938	7	5	77	1	0	1	0	1	0	0	0	0	17005	1188	41	0	5162	0	UBR3	2	170929938	In_Frame_Del	DEL	GAA	TCGA-06-2559-01A-01D-1494-08	828518	170929938	72269435	13	5047											
AOX1	316	broad.mit.edu	37	chr2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccttttgggctcggCgccaggtgggaaagtggagt	6	10	16	9	2	1	0	0	0	1	0	3	2	1	2	2	5	0	1	2	5	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr2:201478598C>T	uc002uvx.3	+	14	1621	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507V(2)|p.A507A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473													T	201478598	C	T	201478598	3	4	77	1	0	0	0	0	1	0	0	0	731	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	30548660	201478598	41720775	14	5048											
TMPPE	643853	broad.mit.edu	37	chr3	33134390	33134390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacccagcctcatgggtatcCcgtagtaggctgtgcctggg	6	10	13	12	1	1	0	1	0	0	0	2	0	2	0	4	3	3	4	4	3	4	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:33134390C>A	uc003cfk.2	-	1	1510	c.1298G>T	c.(1297-1299)gGg>gTg	p.G433V	GLB1_uc003cfh.1_Intron|GLB1_uc003cfi.1_Intron|GLB1_uc003cfj.1_Intron|GLB1_uc011axk.1_Intron|TMPPE_uc011axl.1_Missense_Mutation_p.G296V|TMPPE_uc021wux.1_Missense_Mutation_p.G433V	NM_001039770	NP_001129710	Q6ZT21	TMPPE_HUMAN	Homo sapiens transmembrane protein with metallophosphoesterase domain (TMPPE), transcript variant 1, mRNA.	433						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						CATGGGTATCCCGTAGTAGGC	0.592													A	33134390	C	A	33134390	3	1	77	1	0	0	0	0	1	0	0	0	16338	623	22	4	67	4	TMPPE	3	33134390	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		33134390	164888040	15	5049											
TMF1	7110	broad.mit.edu	37	chr3	69075241	69075241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctagaaacagaaaatggcTtgcgttccttagggagtaaa	14	10	11	6	1	0	2	0	0	0	2	1	3	1	3	1	2	3	4	1	2	7	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:69075241T>C	uc011bfx.2	-	13	3021	c.2774A>G	c.(2773-2775)aAg>aGg	p.K925R	TMF1_uc003dnn.3_Missense_Mutation_p.K922R	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	922					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity	p.S925Y(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		AGAAAATGGCTTGCGTTCCTT	0.393													C	69075241	T	C	69075241	3	2	77	1	0	0	0	0	1	0	0	0	16328	1609	56	3	532	3	TMF1	3	69075241	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	35940851	69075241	128947189	16	5050											
CPN2	1370	broad.mit.edu	37	chr3	194062679	194062679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggcaggtgcgtgatggcGttgcgttgcagccacagcct	6	8	16	11	4	0	1	0	1	0	0	0	1	0	1	2	3	6	4	2	3	0	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr3:194062679G>A	uc003fts.3	-	1	843	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CPN2_uc021xix.1_Silent_p.N251N	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	251					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		GCGTGATGGCGTTGCGTTGCA	0.602													A	194062679	G	A	194062679	2	1	77	1	0	0	0	0	0	0	0	1	3841	1136	40	1		1	CPN2	3	194062679	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	124987438	194062679	3959751	17	5051											
RGS12	6002	broad.mit.edu	37	chr4	3432638	3432638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacagcaccttgctgcCgccgccctccaccccccagg	6	4	7	24	2	0	0	0	0	0	0	1	0	1	0	10	1	4	2	10	1	1	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:3432638C>T	uc003ggw.3	+	16	4974	c.4070C>T	c.(4069-4071)cCg>cTg	p.P1357L	RGS12_uc003ggv.3_Missense_Mutation_p.P1357L|RGS12_uc003ggy.1_3'UTR|RGS12_uc003ggz.3_Missense_Mutation_p.P709L|RGS12_uc011bvs.2_3'UTR|RGS12_uc003gha.3_Missense_Mutation_p.P699L|RGS12_uc010icv.3_Missense_Mutation_p.P556L	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	1357						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity	p.P1357L(2)		autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ACCTTGCTGCCGCCGCCCTCC	0.667													T	3432638	C	T	3432638	3	4	77	1	0	0	0	0	1	0	0	0	13384	652	23	1	4190	1	RGS12	4	3432638	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		3432638	187721638	18	5052											
GABRB1	2560	broad.mit.edu	37	chr4	47405592	47405592	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagcgtatccacgactGtcactaagttttcgtctaaa	11	12	8	10	3	3	0	2	0	1	0	5	2	4	1	1	1	1	2	1	1	4	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:47405592G>T	uc003gxh.3	+	6	1073	c.699G>T	c.(697-699)ctG>ctT	p.L233L	GABRB1_uc011bze.2_Silent_p.L163L	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	233					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ATCCACGACTGTCACTAAGTT	0.398													T	47405592	G	T	47405592	2	4	77	1	0	0	0	0	0	0	0	1	6218	1364	48	4		4	GABRB1	4	47405592	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	43972954	47405592	143748684	19	5053											
PDGFRA	5156	broad.mit.edu	37	chr4	55133901	55133901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgatgtggaaaagattcagGaaataaggtaaagaaactct	18	9	10	4	0	2	3	1	1	1	2	2	5	2	5	0	3	1	1	0	3	7	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55133901G>A	uc003han.4	+	6	1445	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.E266K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	372	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAAGATTCAGGAAATAAGGTA	0.463			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55133901	G	A	55133901	3	1	77	1	0	0	0	0	1	0	0	0	11737	1175	41	2	1136	2	PDGFRA	4	55133901	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	7728309	55133901	136020375	20	5054											
PDGFRA	5156	broad.mit.edu	37	chr4	55144136	55144136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcacctggggccacatttGaacattgtaaacttgctggg	10	11	10	10	0	1	1	1	1	0	0	1	1	1	1	2	3	3	2	2	3	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:55144136G>C	uc003han.4	+	13	2296	c.1965G>C	c.(1963-1965)ttG>ttC	p.L655F	PDGFRA_uc003haa.3_Missense_Mutation_p.L415F|PDGFRA_uc010igq.1_Missense_Mutation_p.L549F|PDGFRA_uc003ham.2_Non-coding_Transcript|PDGFRA_uc003hao.1_Missense_Mutation_p.L34F	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	655	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GGCCACATTTGAACATTGTAA	0.458			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55144136	G	C	55144136	3	2	77	1	0	0	0	0	1	0	0	0	11737	1281	45	4	2015	4	PDGFRA	4	55144136	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	10235	55144136	136010140	21	5055											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-																															agctgctgctcctgggagctCtgctgctgctgctgctgcgt																										TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:56304530_56304532delCTG	uc003haz.1	-	22	3204_3206	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_uc003hba.1_In_Frame_Del_p.Q760del|CLOCK_uc010igu.1_Non-coding_Transcript	NM_004898	NP_004889	O15516	CLOCK_HUMAN	Homo sapiens clock homolog (mouse) (CLOCK), mRNA.	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													-	56304532	CTG	-	56304530	7	5	77	1	0	1	0	1	0	0	0	0	3580	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-06-2559-01A-01D-1494-08	1160394	56304530	134849746	22	5056											
GRID2	2895	broad.mit.edu	37	chr4	94411879	94411879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgttatctcatcttacacgGcaaacctcgctgctttcctc	7	15	5	14	2	2	0	1	0	2	0	6	0	3	0	2	1	3	4	2	1	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:94411879G>A	uc011cdt.2	+	11	2206	c.1948G>A	c.(1948-1950)Gca>Aca	p.A650T	GRID2_uc011cdu.2_Missense_Mutation_p.A555T	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	650					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCTTACACGGCAAACCTCGC	0.438													A	94411879	G	A	94411879	3	1	77	1	0	0	0	0	1	0	0	0	6827	1203	42	2	1994	2	GRID2	4	94411879	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	38107349	94411879	96742397	23	5057											
NEUROG2	63973	broad.mit.edu	37	chr4	113436257	113436257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgccgcgttgaggttgtgCatgcggtttcgctcgcggtt	3	13	16	9	6	0	1	0	1	0	0	2	1	0	1	1	3	3	6	1	3	0	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr4:113436257C>T	uc003ias.3	-	1	702	c.375G>A	c.(373-375)atG>atA	p.M125I	NEUROG2_uc021xqu.1_Missense_Mutation_p.M125I	NM_024019	NP_076924	Q9H2A3	NGN2_HUMAN	Homo sapiens neurogenin 2 (NEUROG2), mRNA.	125	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		TGAGGTTGTGCATGCGGTTTC	0.672													T	113436257	C	T	113436257	3	4	77	1	0	0	0	0	1	0	0	0	10429	710	25	2	447	2	NEUROG2	4	113436257	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	19024378	113436257	77718019	24	5058											
PRDM9	56979	broad.mit.edu	37	chr5	23526957	23526957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcagggagtgtgggcGgggctttagctggcagtcag	5	10	19	7	1	2	0	1	0	1	0	2	1	2	1	0	5	2	4	0	5	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:23526957G>A	uc003jgo.3	+	10	1942	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.G586G(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGC	0.607										HNSCC(3;0.000094)			A	23526957	G	A	23526957	3	1	77	1	0	0	0	0	1	0	0	0	12549	1116	39	1	1798	1	PRDM9	5	23526957	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		23526957	157388303	25	5059											
MAP3K1	4214	broad.mit.edu	37	chr5	56168506	56168506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagagaacctttaataTgtcccctttgtagatctaag	14	13	7	7	0	1	2	0	0	1	2	2	4	2	2	3	0	1	1	3	0	7	7			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:56168506T>C	uc003jqw.4	+	7	1963	c.1462T>C	c.(1462-1464)Tgt>Cgt	p.C488R		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	488					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.Y488Y(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACCTTTAATATGTCCCCTTTG	0.279													C	56168506	T	C	56168506	3	2	77	1	0	0	0	0	1	0	0	0	9318	1464	51	3	1492	3	MAP3K1	5	56168506	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	32641549	56168506	124746754	26	5060											
GPR98	84059	broad.mit.edu	37	chr5	89989726	89989726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagggcactttggtcggCtgttgttgttctacagtact	5	14	14	8	2	1	0	0	0	1	0	2	1	1	1	0	4	2	6	0	4	2	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:89989726C>T	uc003kju.3	+	32	7249	c.7153C>T	c.(7153-7155)Ctg>Ttg	p.L2385L	GPR98_uc003kjt.3_Silent_p.L91L|GPR98_uc003kjv.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2385					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CTTTGGTCGGCTGTTGTTGTT	0.428													T	89989726	C	T	89989726	2	4	77	1	0	0	0	0	0	0	0	1	6776	796	28	2		2	GPR98	5	89989726	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	33821220	89989726	90925534	27	5061											
FBN2	2201	broad.mit.edu	37	chr5	127728841	127728841	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttacttagtccagtgatGataggtccctgtcccccggc	7	11	9	14	1	0	2	0	2	0	0	3	2	3	2	4	2	1	0	4	2	3	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:127728841G>T	uc003kuu.3	-	9	1891	c.1452C>A	c.(1450-1452)atC>atA	p.I484I	FBN2_uc003kuv.2_Silent_p.I451I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	484					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTCCAGTGATGATAGGTCCCT	0.498													T	127728841	G	T	127728841	2	4	77	1	0	0	0	0	0	0	0	1	5752	1280	45	4		4	FBN2	5	127728841	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	37739115	127728841	53186419	28	5062											
PCDHGC5	8641	broad.mit.edu	37	chr5	140768969	140768969	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcctacgtgtccataagCgcggagagcggggtggtgtt	7	10	15	9	4	1	1	1	0	0	1	3	2	3	1	2	4	3	1	2	4	2	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr5:140768969C>T	uc003lkc.2	+	0	1518	c.1518C>T	c.(1516-1518)agC>agT	p.S506S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	510	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCATAAGCGCGGAGAGCG	0.662													T	140768969	C	T	140768969	2	4	77	1	0	0	0	0	0	0	0	1	11647	767	27	1		1	PCDHGC5	5	140768969	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	13040128	140768969	40146291	29	5063											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827265	34827265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaccaaggaagctgtGtccctgactaaggatgcctt	10	9	10	12	0	1	1	1	1	0	0	2	4	2	3	4	2	2	1	4	2	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr6:34827265G>A	uc003oju.4	+	13	3366	c.3132G>A	c.(3130-3132)gtG>gtA	p.V1044V	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1044										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AGGAAGCTGTGTCCCTGACTA	0.517													A	34827265	G	A	34827265	2	1	77	1	0	0	0	0	0	0	0	1	17070	1364	48	2		2	UHRF1BP1	6	34827265	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		34827265	136287802	30	5064											
ZNF735	730291	broad.mit.edu	37	chr7	63680474	63680474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacataagataattcatactGgagagaaaccctacacatgt	17	9	6	9	0	1	2	1	0	0	2	1	4	1	3	1	1	3	0	1	1	5	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:63680474G>A	uc011kdn.2	+	3	1045	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AATTCATACTGGAGAGAAACC	0.403													A	63680474	G	A	63680474	3	1	77	1	0	0	0	0	1	0	0	0	18225	1349	47	2	1059	2	ZNF735	7	63680474	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		63680474	95458189	31	5065											
TAF6	6878	broad.mit.edu	37	chr7	99706049	99706049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagagcagcctgggcccGagccttgaccacctgggagc	7	5	14	15	1	0	2	0	1	0	1	0	4	0	3	5	2	5	2	5	2	0	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:99706049G>A	uc003uth.3	-	11	1707	c.1570C>T	c.(1570-1572)Cgg>Tgg	p.R524W	AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Missense_Mutation_p.R389W|TAF6_uc003utm.3_Missense_Mutation_p.R467W|TAF6_uc003uti.3_Missense_Mutation_p.R467W|TAF6_uc003utk.3_Missense_Mutation_p.R467W|TAF6_uc011kji.2_Missense_Mutation_p.R504W	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	467					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCTGGGCCCGAGCCTTGACC	0.642													A	99706049	G	A	99706049	3	1	77	1	0	0	0	0	1	0	0	0	15627	1057	37	1	646	1	TAF6	7	99706049	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	36025575	99706049	59432614	32	5066											
GRM8	2918	broad.mit.edu	37	chr7	126173406	126173406	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttcttcccctgctcaAatattcggtggatacggttt	8	15	8	10	2	2	1	1	0	1	1	4	2	3	2	2	3	2	2	2	3	3	6			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:126173406A>G	uc003vlr.2	-	7	2341	c.2030T>C	c.(2029-2031)tTt>tCt	p.F677S	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.F677S|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	677					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.I676M(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCCCTGCTCAAATATTCGGTG	0.502										HNSCC(24;0.065)			G	126173406	A	G	126173406	3	3	77	1	0	0	0	0	1	0	0	0	6858	14	1	3	758	3	GRM8	7	126173406	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	26467357	126173406	32965257	33	5067											
UBN2	254048	broad.mit.edu	37	chr7	138969015	138969015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatgaacatcagcagaCagtctcccaccttgaattta	13	10	8	10	0	2	3	1	2	1	1	3	4	2	4	2	1	2	1	2	1	4	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr7:138969015C>A	uc011kqr.2	+	14	3364	c.3364C>A	c.(3364-3366)Cag>Aag	p.Q1122K		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1122	Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CATCAGCAGACAGTCTCCCAC	0.498													A	138969015	C	A	138969015	3	1	77	1	0	0	0	0	1	0	0	0	16995	479	17	4	3422	4	UBN2	7	138969015	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	12795609	138969015	20169648	34	5068											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871717	1871717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaaatcagagctgcGgactgctgcagaattcagtt	13	9	12	7	1	2	4	2	1	0	3	2	6	2	5	0	1	4	4	0	1	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:1871717G>A	uc003wpr.3	+	19	2521	c.2343G>A	c.(2341-2343)gcG>gcA	p.A781A	ARHGEF10_uc003wpq.1_Silent_p.A805A|ARHGEF10_uc003wps.3_Silent_p.A743A|ARHGEF10_uc003wpv.3_Silent_p.A514A|ARHGEF10_uc010lre.3_Silent_p.A461A	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	806					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGAGCTGCGGACTGCTGCA	0.418													A	1871717	G	A	1871717	2	1	77	1	0	0	0	0	0	0	0	1	897	1103	39	1		1	ARHGEF10	8	1871717	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		1871717	144492305	35	5069											
CTHRC1	115908	broad.mit.edu	37	chr8	104390318	104390318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgttcagtggctcacttCggctaaaatgcagaaatgca	11	13	9	8	1	2	1	2	0	0	1	3	1	2	1	0	2	2	5	0	2	3	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:104390318C>T	uc003ylk.3	+	2	535	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W		NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	146						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			TGGCTCACTTCGGCTAAAATG	0.373													T	104390318	C	T	104390318	3	4	77	1	0	0	0	0	1	0	0	0	4043	875	31	1	446	1	CTHRC1	8	104390318	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	102518601	104390318	41973704	36	5070											
TG	7038	broad.mit.edu	37	chr8	134042090	134042090	+	Frame_Shift_Del	DEL	G	G	-																															cggagaggtgagtggcaactGggggctgctggaccaggtgg																										TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr8:134042090delG	uc003ytw.3	+	40	7102	c.7061delG	c.(7060-7062)tggfs	p.W2354fs	TG_uc010mdw.3_Frame_Shift_Del_p.W1113fs|TG_uc011ljb.2_Frame_Shift_Del_p.W723fs|TG_uc011ljc.2_Frame_Shift_Del_p.W487fs	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2354					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGTGGCAACTGGGGGCTGCTG	0.577													-	134042090	G	-	134042090	7	5	77	1	0	1	0	1	0	0	0	0	15913	1357	47	0	7223	0	TG	8	134042090	Frame_Shift_Del	DEL	G	TCGA-06-2559-01A-01D-1494-08	29651772	134042090	12321932	37	5071											
DOCK8	81704	broad.mit.edu	37	chr9	439266	439266	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atatttcttccaatgtgctgGaggagtctgtggtctctgag	7	15	12	7	0	3	1	0	1	3	0	5	3	4	3	1	3	1	1	1	3	2	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:439266G>C	uc003zgf.2	+	39	5213	c.5101G>C	c.(5101-5103)Gag>Cag	p.E1701Q	DOCK8_uc022bcu.1_Missense_Mutation_p.E1633Q|DOCK8_uc010mgv.3_Missense_Mutation_p.E1601Q|DOCK8_uc010mgu.3_Missense_Mutation_p.E1003Q|DOCK8_uc003zgk.2_Missense_Mutation_p.E1159Q	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1701	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CAATGTGCTGGAGGAGTCTGT	0.552													C	439266	G	C	439266	3	2	77	1	0	0	0	0	1	0	0	0	4732	1175	41	4	5259	4	DOCK8	9	439266	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		439266	140774165	38	5072											
TAF1L	138474	broad.mit.edu	37	chr9	32630579	32630579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgttggtatcatacatatCaggaggctgagatgtgtagg	10	13	14	4	0	2	1	2	1	0	1	2	3	2	2	0	4	1	4	0	4	4	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:32630579C>T	uc003zrg.1	-	0	5089	c.4999G>A	c.(4999-5001)Gat>Aat	p.D1667N	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1667					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCATACATATCAGGAGGCTGA	0.463													T	32630579	C	T	32630579	3	4	77	1	0	0	0	0	1	0	0	0	15620	826	29	2	485	2	TAF1L	9	32630579	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	32191313	32630579	108582852	39	5073											
ZNF658	26149	broad.mit.edu	37	chr9	40772401	40772401	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctcccctgtgtgaatTctttgatgtactctgagggt	6	17	10	8	0	3	3	0	3	3	0	4	4	3	3	2	1	1	1	2	1	2	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:40772401T>A	uc004abs.2	-	4	3026	c.2874A>T	c.(2872-2874)agA>agT	p.R958S	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.R958S	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	958					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGTGTGAATTCTTTGATGTA	0.438													A	40772401	T	A	40772401	3	1	77	1	0	0	0	0	1	0	0	0	18170	1780	62	5	309	5	ZNF658	9	40772401	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	8141822	40772401	100441030	40	5074											
TNFSF8	944	broad.mit.edu	37	chr9	117666360	117666360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagagagattctggtataCgtgtttcgtttgcattccag	8	16	11	6	2	1	2	0	1	1	2	3	4	2	2	1	1	2	4	1	1	2	7	rs145748228		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr9:117666360C>T	uc004bji.2	-	3	848	c.556G>A	c.(556-558)Gta>Ata	p.V186I	TNFSF8_uc022bmi.1_Intron	NM_001244	NP_001235	P32971	TNFL8_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 8 (TNFSF8), transcript variant 1, mRNA.	186					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						TTCTGGTATACGTGTTTCGTT	0.418													T	117666360	C	T	117666360	3	4	77	1	0	0	0	0	1	0	0	0	16411	536	19	1	152	1	TNFSF8	9	117666360	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	76893959	117666360	23547071	41	5075											
ANKRD30A	91074	broad.mit.edu	37	chr10	37506710	37506710	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaattaggaagaatcgaagaGcagcataggaaagagttaga	19	6	13	3	1	0	4	0	0	0	4	1	8	0	6	0	2	2	3	0	2	8	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:37506710G>A	uc021ppc.1	+	32	3102	c.3003G>A	c.(3001-3003)gaG>gaA	p.E1001E	ANKRD30A_uc001iza.1_Silent_p.E1001E	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	1057						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAATCGAAGAGCAGCATAGGA	0.328													A	37506710	G	A	37506710	2	1	77	1	0	0	0	0	0	0	0	1	658	962	34	2		2	ANKRD30A	10	37506710	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		37506710	98028037	42	5076											
ADAMTS14	140766	broad.mit.edu	37	chr10	72495039	72495039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttgactttggcagtggCtaccagacctgcttggcagt	6	12	12	11	1	0	2	0	1	0	1	0	2	0	2	2	3	2	5	2	3	1	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:72495039C>T	uc001jrg.3	+	8	1476	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	ADAMTS14_uc001jrh.3_Silent_p.G489G|ADAMTS14_uc001jri.1_Silent_p.G12G	NM_139155	NP_631894	Q8WXS8	ATS14_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 14 (ADAMTS14), transcript variant 1, mRNA.	489	Disintegrin.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TTGGCAGTGGCTACCAGACCT	0.592													T	72495039	C	T	72495039	2	4	77	1	0	0	0	0	0	0	0	1	259	784	28	2		2	ADAMTS14	10	72495039	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	34988329	72495039	63039708	43	5077											
PTEN	5728	broad.mit.edu	37	chr10	89692993	89692993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatttctatggggaagtaagGaccagagacaaaaaggtaag	17	7	13	4	0	1	1	0	0	1	1	1	5	1	3	1	4	0	2	1	4	6	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89692993G>T	uc001kfb.3	+	4	1509	c.477G>T	c.(475-477)agG>agT	p.R159S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	159	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R159S(14)|p.?(5)|p.R55fs*1(5)|p.R159K(5)|p.Y27fs*1(2)|p.R159fs*8(2)|p.Y27_N212>Y(2)|p.V158fs*22(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGGAAGTAAGGACCAGAGACA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692993	G	T	89692993	3	4	77	1	0	0	0	0	1	0	0	0	12823	1165	41	4	495	4	PTEN	10	89692993	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	17197954	89692993	45841754	44	5078											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720852	C	T	89720852	4	4	77	1	0	0	0	0	0	1	0	0	12823	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	27859	89720852	45813895	45	5079											
COL17A1	1308	broad.mit.edu	37	chr10	105798253	105798253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccagggggccctggcGggcctgacacgtacatggta	6	5	18	12	2	0	1	0	1	0	0	0	1	0	1	3	7	1	2	3	7	2	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:105798253G>A	uc001kxr.3	-	44	3150	c.2981C>T	c.(2980-2982)cCg>cTg	p.P994L		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	994	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P994L(4)|p.P994P(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGGCCCTGGCGGGCCTGACAC	0.597													A	105798253	G	A	105798253	3	1	77	1	0	0	0	0	1	0	0	0	3705	1116	39	1	1560	1	COL17A1	10	105798253	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	16077401	105798253	29736494	46	5080											
NANOS1	340719	broad.mit.edu	37	chr10	120790044	120790044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtgctgtgtcccgtgcTgcgccgctacacgtgtcccc	3	9	13	16	5	0	0	0	0	0	0	2	1	2	0	4	0	4	3	4	0	1	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr10:120790044T>A	uc009xzf.1	+	0	817	c.731T>A	c.(730-732)cTg>cAg	p.L244Q		NM_199461	NP_955631	Q8WY41	NANO1_HUMAN	Homo sapiens nanos homolog 1 (Drosophila) (NANOS1), mRNA.	244					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		TGTCCCGTGCTGCGCCGCTAC	0.687													A	120790044	T	A	120790044	3	1	77	1	0	0	0	0	1	0	0	0	10227	1580	55	5	733	5	NANOS1	10	120790044	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08	14991791	120790044	14744703	47	5081											
OR10S1	219873	broad.mit.edu	37	chr11	123847486	123847486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcttcacctccttgttccGcaaagtgtaaatgaatgggt	10	13	9	9	1	1	1	1	1	0	0	3	1	3	1	3	1	1	4	3	1	4	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr11:123847486G>A	uc001pzm.1	-	0	913	c.913C>T	c.(913-915)Cgg>Tgg	p.R305W		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TCCTTGTTCCGCAAAGTGTAA	0.527													A	123847486	G	A	123847486	3	1	77	1	0	0	0	0	1	0	0	0	10994	1086	38	1	86	1	OR10S1	11	123847486	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		123847486	11159030	48	5082											
AGAP2	116986	broad.mit.edu	37	chr12	58125706	58125706	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacattcggtgaggaCgggagggaagaagagtagtc	13	6	16	6	2	0	4	0	2	0	2	2	7	0	7	1	4	1	1	1	4	4	2	rs145122115		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:58125706C>T	uc001spq.3	-	7	1839	c.1839G>A	c.(1837-1839)ccG>ccA	p.P613P	AGAP2_uc001spp.3_Silent_p.P613P|AGAP2_uc001spr.3_Silent_p.P277P	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	613					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.E612Q(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCGGTGAGGACGGGAGGGAAG	0.622													T	58125706	C	T	58125706	2	4	77	1	0	0	0	0	0	0	0	1	368	523	19	1		1	AGAP2	12	58125706	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08		58125706	75726189	49	5083											
GPR133	283383	broad.mit.edu	37	chr12	131487809	131487809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaacctgcacggcagcaCgccccaggtcaccgtggagg	8	4	12	17	3	1	0	1	0	0	0	2	1	2	1	5	4	3	3	5	4	1	0	rs142314859		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr12:131487809C>T	uc010tbm.2	+	10	1761	c.1202C>T	c.(1201-1203)aCg>aTg	p.T401M	GPR133_uc001uit.4_Missense_Mutation_p.T369M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	369					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P401P(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CACGGCAGCACGCCCCAGGTC	0.622													T	131487809	C	T	131487809	3	4	77	1	0	0	0	0	1	0	0	0	6697	536	19	1	1144	1	GPR133	12	131487809	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	73362103	131487809	2364086	50	5084											
N6AMT2	221143	broad.mit.edu	37	chr13	21331636	21331636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttatatttatcatcctcGcctggctcaatttgttgctt	7	19	6	9	1	2	0	2	0	0	0	4	0	3	0	2	1	1	4	2	1	4	7			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr13:21331636G>A	uc001uno.1	-	1	183	c.102C>T	c.(100-102)ggC>ggT	p.G34G	N6AMT2_uc009zzr.1_Silent_p.G34G|N6AMT2_uc001unp.2_Non-coding_Transcript	NM_174928	NP_777588	Q8WVE0	N6MT2_HUMAN	Homo sapiens N-6 adenine-specific DNA methyltransferase 2 (putative) (N6AMT2), mRNA.	34							methyltransferase activity|nucleic acid binding			endometrium(1)|large_intestine(3)|lung(3)	7		all_cancers(29;5.91e-19)|all_epithelial(30;1.42e-15)|all_lung(29;5.9e-14)|Lung SC(185;0.0367)		all cancers(112;0.000234)|Epithelial(112;0.000471)|OV - Ovarian serous cystadenocarcinoma(117;0.0111)|Lung(94;0.0161)|LUSC - Lung squamous cell carcinoma(192;0.0431)		TATCATCCTCGCCTGGCTCAA	0.418													A	21331636	G	A	21331636	2	1	77	1	0	0	0	0	0	0	0	1	10191	1074	38	1		1	N6AMT2	13	21331636	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08		21331636	93838242	51	5085											
CHD8	57680	broad.mit.edu	37	chr14	21876530	21876530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgctggccagactgcCatggtacacaatagtgttca	9	10	10	12	0	1	1	1	0	0	1	1	1	1	1	3	2	4	3	3	2	3	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:21876530C>G	uc001war.2	-	11	2736	c.2671G>C	c.(2671-2673)Ggc>Cgc	p.G891R	CHD8_uc001was.2_Missense_Mutation_p.G612R|CHD8_uc001wav.1_Missense_Mutation_p.G54R	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	891	Helicase ATP-binding.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GCCAGACTGCCATGGTACACA	0.438													G	21876530	C	G	21876530	3	3	77	1	0	0	0	0	1	0	0	0	3361	594	21	4	5178	4	CHD8	14	21876530	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		21876530	85473010	52	5086											
DHRS2	10202	broad.mit.edu	37	chr14	24109023	24109023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggagcactgtgggggCgtcgacttcctggtgtgcag	4	9	17	11	2	0	0	0	0	0	0	2	2	1	1	2	4	2	2	2	4	0	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24109023C>T	uc001wkt.4	+	3	786	c.339C>T	c.(337-339)ggC>ggT	p.G113G	DHRS2_uc010aku.1_Silent_p.G113G|DHRS2_uc001wku.4_Silent_p.G113G|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	91					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		ACTGTGGGGGCGTCGACTTCC	0.637													T	24109023	C	T	24109023	2	4	77	1	0	0	0	0	0	0	0	1	4529	755	27	1		1	DHRS2	14	24109023	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	2232493	24109023	83240517	53	5087											
LRRC16B	90668	broad.mit.edu	37	chr14	24524519	24524519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagccacttggagagccGgtaagcagatggggcagaga	11	7	15	8	1	1	3	1	0	0	3	1	5	1	3	2	4	3	3	2	4	1	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr14:24524519G>A	uc001wlj.2	+	8	762	c.605_splice	c.e8+1	p.R202_splice		NM_138360	NP_612369	Q8ND23	LR16B_HUMAN	Homo sapiens leucine rich repeat containing 16B (LRRC16B), mRNA.	202										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		TTGGAGAGCCGGTAAGCAGAT	0.552													A	24524519	G	A	24524519	3	1	77	1	0	0	0	0	1	0	0	0	9042	1130	39	1	635	1	LRRC16B	14	24524519	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	415496	24524519	82825021	54	5088											
C15orf2	23742	broad.mit.edu	37	chr15	24921169	24921169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttccgcggcctgttccGccggaacgcccgtcgcaggc	3	7	12	19	7	0	0	0	0	0	0	3	1	2	1	6	3	1	2	6	3	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr15:24921169G>A	uc001ywo.3	+	0	629	c.155G>A	c.(154-156)cGc>cAc	p.R52H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	52					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGCCTGTTCCGCCGGAACGCC	0.756													A	24921169	G	A	24921169	3	1	77	1	0	0	0	0	1	0	0	0	1797	1087	38	1	157	1	C15orf2	15	24921169	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		24921169	77610223	55	5089											
SOLH	6650	broad.mit.edu	37	chr16	603459	603459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacagcctccaaggggacCcacagccccccactcacgcc	9	3	9	20	1	1	0	1	0	0	0	2	2	2	2	7	3	2	0	7	3	1	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:603459C>T	uc002chi.3	+	13	3567	c.3204C>T	c.(3202-3204)acC>acT	p.T1068T	SOLH_uc002chj.3_Silent_p.T128T	NM_005632	NP_005623	O75808	CAN15_HUMAN	Homo sapiens small optic lobes homolog (Drosophila) (SOLH), mRNA.	1068					proteolysis	intracellular	calcium-dependent cysteine-type endopeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.T1068T(2)		breast(2)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Hepatocellular(780;0.00335)				CCAAGGGGACCCACAGCCCCC	0.687													T	603459	C	T	603459	2	4	77	1	0	0	0	0	0	0	0	1	15019	610	22	2		2	SOLH	16	603459	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08		603459	89751294	56	5090											
WDR90	197335	broad.mit.edu	37	chr16	715745	715745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgaggatgggagtgtgCgggtgtgggccttggccagc	5	8	21	7	1	0	1	0	1	0	0	0	3	0	3	2	5	2	1	2	5	0	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:715745C>T	uc002cii.1	+	34	4432	c.4378C>T	c.(4378-4380)Cgg>Tgg	p.R1460W	WDR90_uc002cij.1_Intron|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cin.1_Missense_Mutation_p.R75W|WDR90_uc002cio.1_Missense_Mutation_p.R59W|WDR90_uc010bqx.1_Missense_Mutation_p.R59W|RHOT2_uc010uum.2_5'Flank|RHOT2_uc002cip.3_5'Flank|RHOT2_uc002ciq.3_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1460										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TGGGAGTGTGCGGGTGTGGGC	0.672													T	715745	C	T	715745	3	4	77	1	0	0	0	0	1	0	0	0	17439	759	27	1	4516	1	WDR90	16	715745	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	112286	715745	89639008	57	5091											
OTOA	146183	broad.mit.edu	37	chr16	21698817	21698817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaccgcagcctgtttctCatcacactggagaggtgttt	8	12	11	10	1	2	2	2	1	1	1	3	3	2	2	2	2	2	3	2	2	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:21698817C>T	uc002djh.3	+	6	484	c.483C>T	c.(481-483)ctC>ctT	p.L161L	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Silent_p.L82L	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	161					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GCCTGTTTCTCATCACACTGG	0.542													T	21698817	C	T	21698817	2	4	77	1	0	0	0	0	0	0	0	1	11378	813	29	2		2	OTOA	16	21698817	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	20983072	21698817	68655936	58	5092											
SCNN1G	6340	broad.mit.edu	37	chr16	23226433	23226433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcttctgtccaacttCggtggccagctgggcctgtg	5	11	14	11	1	1	1	0	0	1	1	3	2	2	1	3	3	3	2	3	3	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:23226433C>A	uc002dlm.1	+	12	1732	c.1593C>A	c.(1591-1593)ttC>ttA	p.F531L		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	531					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TGTCCAACTTCGGTGGCCAGC	0.547													A	23226433	C	A	23226433	3	1	77	1	0	0	0	0	1	0	0	0	14023	883	31	4	1639	4	SCNN1G	16	23226433	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	1527616	23226433	67128320	59	5093											
ITGAD	3681	broad.mit.edu	37	chr16	31409190	31409190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctcctgctgggctcGcgctgggagatcatccagac	5	9	12	15	2	1	2	1	0	0	2	5	3	4	2	4	2	2	3	4	2	0	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:31409190G>A	uc010cap.1	+	4	436	c.387G>A	c.(385-387)tcG>tcA	p.S129S	ITGAD_uc010vfl.1_Silent_p.S129S|ITGAD_uc002ebv.1_Silent_p.S129S|ITGAD_uc002ebw.1_5'UTR	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	129					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGCTGGGCTCGCGCTGGGAGA	0.642													A	31409190	G	A	31409190	2	1	77	1	0	0	0	0	0	0	0	1	7942	1074	38	1		1	ITGAD	16	31409190	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	8182757	31409190	58945563	60	5094											
NLRC5	84166	broad.mit.edu	37	chr16	57054711	57054711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagacccagaatggctgaaCgccaagatgaagttcttcct	14	8	9	10	1	1	5	0	2	1	3	2	5	2	5	3	1	1	2	3	1	5	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57054711C>T	uc021tiu.1	+	1	214	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_uc021tit.1_Silent_p.N29N|NLRC5_uc010ccq.1_Non-coding_Transcript	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	29					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562													T	57054711	C	T	57054711	2	4	77	1	0	0	0	0	0	0	0	1	10546	535	19	1		1	NLRC5	16	57054711	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	25645521	57054711	33300042	61	5095											
NLRC5	84166	broad.mit.edu	37	chr16	57088674	57088674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcaggctgagccagaCgggactgtccccgaaaagcc	9	7	11	14	2	1	2	1	1	0	1	2	4	2	3	5	2	2	1	5	2	2	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:57088674C>T	uc021tiu.1	+	23	3645	c.3518C>T	c.(3517-3519)aCg>aTg	p.T1173M	NLRC5_uc021tiv.1_Missense_Mutation_p.T978M|NLRC5_uc021tiw.1_Missense_Mutation_p.T948M|NLRC5_uc010ccr.1_Non-coding_Transcript|NLRC5_uc010ccs.1_Non-coding_Transcript|NLRC5_uc002eko.1_Non-coding_Transcript|NLRC5_uc002ekq.1_5'UTR|NLRC5_uc002ekr.1_Missense_Mutation_p.T89M	NM_032206	NP_115582	Q86WI3	NLRC5_HUMAN	Homo sapiens NLR family, CARD domain containing 5 (NLRC5), mRNA.	1173					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				CTGAGCCAGACGGGACTGTCC	0.592													T	57088674	C	T	57088674	3	4	77	1	0	0	0	0	1	0	0	0	10546	536	19	1	3608	1	NLRC5	16	57088674	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	33963	57088674	33266079	62	5096											
KCTD19	146212	broad.mit.edu	37	chr16	67325657	67325657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccatcgctgcccaccaCgggggggtgagtcactttga	8	7	14	12	2	1	2	1	2	0	0	2	3	1	2	3	3	2	1	3	3	1	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:67325657C>T	uc002esu.2	-	12	2353	c.2302G>A	c.(2302-2304)Gtg>Atg	p.V768M	KCTD19_uc002est.2_Missense_Mutation_p.V540M|KCTD19_uc010vjj.1_Missense_Mutation_p.V511M	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	768						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCCCACCACGGGGGGGTGA	0.572													T	67325657	C	T	67325657	3	4	77	1	0	0	0	0	1	0	0	0	8164	536	19	1	494	1	KCTD19	16	67325657	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	10236983	67325657	23029096	63	5097											
PKD1L2	114780	broad.mit.edu	37	chr16	81187697	81187697	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtgtcgggatcagccagGtggtggggctctctctctcc	4	10	16	11	1	3	0	1	0	2	0	7	2	4	2	2	6	1	1	2	6	0	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr16:81187697G>C	uc002fgh.1	-	25	4275	c.4275C>G	c.(4273-4275)caC>caG	p.H1425Q	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1425	PLAT.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GATCAGCCAGGTGGTGGGGCT	0.607													C	81187697	G	C	81187697	3	2	77	1	0	0	0	0	1	0	0	0	12042	1252	44	4	3175	4	PKD1L2	16	81187697	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	13862040	81187697	9167056	64	5098											
TP53	7157	broad.mit.edu	37	chr17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggataagatgctgaggaGgggccagacctaagagcaat	13	6	14	8	1	0	4	0	1	0	3	1	6	0	6	2	4	2	2	2	4	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578280G>A	uc002gim.2	-	5	763	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_uc002gig.1_Missense_Mutation_p.P190L|TP53_uc002gih.3_Missense_Mutation_p.P190L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P58L|TP53_uc010cnf.1_Missense_Mutation_p.P58L|TP53_uc002gii.1_Missense_Mutation_p.P58L|TP53_uc010cni.1_Missense_Mutation_p.P190L|TP53_uc010cnh.1_Missense_Mutation_p.P190L|TP53_uc002gij.2_Missense_Mutation_p.P190L|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.P97L|TP53_uc002gio.2_Missense_Mutation_p.P58L|TP53_uc010vug.2_Missense_Mutation_p.P151L	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P190L(43)|p.P190fs*57(12)|p.P190del(12)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(7)|p.P190S(6)|p.P190F(4)|p.A189V(4)|p.P190R(4)|p.P190T(4)|p.A189T(3)|p.A189_Q192>E(2)|p.G187fs*16(2)|p.D186_P191delDGLAPP(2)|p.P190A(2)|p.A189P(2)|p.A189fs*53(2)|p.P190H(2)|p.A189G(2)|p.A189A(2)|p.L188_P191del(2)|p.A189_P190>X(2)|p.K164_P219del(1)|p.P58fs*>33(1)|p.P190P(1)|p.P191fs*18(1)|p.A189S(1)|p.P190fs*19(1)|p.A189fs*19(1)|p.A189fs*58(1)|p.A189D(1)|p.P97fs*57(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)		ATGCTGAGGAGGGGCCAGACC	0.552		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)			A	7578280	G	A	7578280	3	1	77	1	0	0	0	0	1	0	0	0	16482	1000	35	2	725	2	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		7578280	73616930	65	5099											
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatggcgcggacgcggGtgccgggcgggggtgtggaa	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			T	7578466	G	T	7578466	3	4	77	1	0	0	0	0	1	0	0	0	16482	1261	44	4	834	4	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	186	7578466	73616744	66	5100											
ODF4	146852	broad.mit.edu	37	chr17	8243550	8243550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacaggtccttgggccagCgccagaactctccgctgccc	7	7	11	16	2	1	1	0	0	1	1	3	1	2	1	5	2	4	2	5	2	2	2	rs147153349		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:8243550C>T	uc002gle.1	+	0	363	c.181C>T	c.(181-183)Cgc>Tgc	p.R61C		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(2)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						CTTGGGCCAGCGCCAGAACTC	0.592													T	8243550	C	T	8243550	3	4	77	1	0	0	0	0	1	0	0	0	10909	768	27	1	183	1	ODF4	17	8243550	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	665084	8243550	72951660	67	5101											
MYH13	8735	broad.mit.edu	37	chr17	10213133	10213133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaagatcttgctctcctcGtgttccaaggaaccctgacg	8	10	9	14	3	2	2	0	1	2	1	5	3	3	3	3	1	2	3	3	1	3	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:10213133G>A	uc002gmk.1	-	33	4761	c.4671C>T	c.(4669-4671)caC>caT	p.H1557H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1557					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCTCTCCTCGTGTTCCAAGG	0.498													A	10213133	G	A	10213133	2	1	77	1	0	0	0	0	0	0	0	1	10108	1136	40	1		1	MYH13	17	10213133	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	1969583	10213133	70982077	68	5102											
KRT27	342574	broad.mit.edu	37	chr17	38936090	38936090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacgttgcctccagcCgcgcactgaagagctttcat	8	10	9	14	4	2	2	2	1	0	1	3	2	3	2	3	0	3	4	3	0	1	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:38936090C>T	uc002hvg.3	-	3	749	c.708G>A	c.(706-708)gcG>gcA	p.A236A		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	236	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A236A(2)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCCTCCAGCCGCGCACTGAA	0.488													T	38936090	C	T	38936090	2	4	77	1	0	0	0	0	0	0	0	1	8522	639	23	1		1	KRT27	17	38936090	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	28722957	38936090	42259120	69	5103											
SEPT4	5414	broad.mit.edu	37	chr17	56599396	56599396	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggatgttctttcggttCaggccactctcgtctcggaa	5	15	10	11	3	5	0	1	0	4	0	8	2	5	2	1	4	0	2	1	4	1	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:56599396C>A	uc010wnx.2	-	6	919	c.774G>T	c.(772-774)ctG>ctT	p.L258L	SEPT4_uc002iwk.2_Silent_p.L96L|SEPT4_uc010wnw.2_Silent_p.L96L|SEPT4_uc002iwl.2_Silent_p.L96L|SEPT4_uc002iwm.2_Silent_p.L243L|SEPT4_uc002iwo.2_Silent_p.L224L|SEPT4_uc002iwp.2_Silent_p.L224L|SEPT4_uc010wny.2_Silent_p.L235L|SEPT4_uc010dcy.2_Silent_p.L125L	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	243					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCTTTCGGTTCAGGCCACTCT	0.542													A	56599396	C	A	56599396	2	1	77	1	0	0	0	0	0	0	0	1	14159	813	29	4		4	SEPT4	17	56599396	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	17663306	56599396	24595814	70	5104											
CASKIN2	57513	broad.mit.edu	37	chr17	73498060	73498062	+	In_Frame_Del	DEL	GGA	GGA	-																															gctggggaaggctagaagctGgaggagactcgccaggagtt																								rs150879399		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr17:73498060_73498062delGGA	uc002joc.3	-	17	3643_3645	c.3093_3095delTCC	c.(3091-3096)cctcca>cca	p.1031_1032PP>P	CASKIN2_uc010wsc.2_In_Frame_Del_p.949_950PP>P	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	1031	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTAGAAGCTGGAGGAGACTCGC	0.69													-	73498062	GGA	-	73498060	7	5	77	1	0	1	0	1	0	0	0	0	2693	1348	47	0	525	0	CASKIN2	17	73498060	In_Frame_Del	DEL	GGA	TCGA-06-2559-01A-01D-1494-08	16898664	73498060	7697150	71	5105											
PTPRS	5802	broad.mit.edu	37	chr19	5221107	5221107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcttgccgttgagcaggTtgaaggcagtccaggcggtg	6	9	18	8	2	0	2	0	2	0	0	1	2	1	2	2	5	2	5	2	5	1	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:5221107T>C	uc002mbv.3	-	19	3593	c.3359A>G	c.(3358-3360)aAc>aGc	p.N1120S	PTPRS_uc002mbu.1_Missense_Mutation_p.N689S|PTPRS_uc010xin.2_Missense_Mutation_p.N689S|PTPRS_uc002mbw.3_Missense_Mutation_p.N1098S|PTPRS_uc002mbx.3_Missense_Mutation_p.N693S|PTPRS_uc002mby.3_Missense_Mutation_p.N689S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1120					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GTTGAGCAGGTTGAAGGCAGT	0.622													C	5221107	T	C	5221107	3	2	77	1	0	0	0	0	1	0	0	0	12899	1725	60	3	2563	3	PTPRS	19	5221107	Missense_Mutation	SNP	T	TCGA-06-2559-01A-01D-1494-08		5221107	53907876	72	5106											
EMR1	2015	broad.mit.edu	37	chr19	6928180	6928180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgaatacagagacaggGttcatctggagtttcttggg	9	12	14	6	0	3	2	1	1	2	1	3	4	3	3	0	4	1	3	0	4	2	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:6928180G>A	uc002mfw.3	+	16	2285	c.2247G>A	c.(2245-2247)ggG>ggA	p.G749G	EMR1_uc010dvc.3_Silent_p.G684G|EMR1_uc010dvb.3_Silent_p.G697G|EMR1_uc010xji.2_Silent_p.G608G|EMR1_uc010xjj.2_Silent_p.G572G	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	749					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CAGAGACAGGGTTCATCTGGA	0.498													A	6928180	G	A	6928180	2	1	77	1	0	0	0	0	0	0	0	1	5145	1248	44	2		2	EMR1	19	6928180	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	1707073	6928180	52200803	73	5107											
ZNF333	84449	broad.mit.edu	37	chr19	14829286	14829286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacagctctgaccttatcAggcatgagaagactcatact	13	10	8	10	0	3	3	2	2	1	2	3	5	3	3	1	1	3	2	1	1	4	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14829286A>G	uc002mzn.3	+	11	1281	c.1147A>G	c.(1147-1149)Agg>Ggg	p.R383G	ZNF333_uc002mzk.4_Missense_Mutation_p.R274G	NM_032433	NP_115809	Q96JL9	ZN333_HUMAN	Homo sapiens zinc finger protein 333 (ZNF333), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						TGACCTTATCAGGCATGAGAA	0.453													G	14829286	A	G	14829286	3	3	77	1	0	0	0	0	1	0	0	0	17951	179	7	3	1189	3	ZNF333	19	14829286	Missense_Mutation	SNP	A	TCGA-06-2559-01A-01D-1494-08	7901106	14829286	44299697	74	5108											
OR7A17	26333	broad.mit.edu	37	chr19	14991924	14991924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgtctggatgttaatgaGcatctttgggattgtagtgg	7	16	14	4	0	2	1	0	1	2	0	2	3	2	3	0	3	1	3	0	3	2	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:14991924G>A	uc010xob.2	-	0	244	c.244C>T	c.(244-246)Ctc>Ttc	p.L82F		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					ATGTTAATGAGCATCTTTGGG	0.473													A	14991924	G	A	14991924	3	1	77	1	0	0	0	0	1	0	0	0	11291	971	34	2	687	2	OR7A17	19	14991924	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	162638	14991924	44137059	75	5109											
PSG5	5673	broad.mit.edu	37	chr19	43679606	43679606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgaagggtaaatgctgGggaggtctggaccatctgga	11	9	16	5	0	2	2	0	2	2	0	2	5	2	5	1	6	1	2	1	6	4	1			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:43679606G>A	uc002ovu.3	-	3	856	c.725C>T	c.(724-726)cCc>cTc	p.P242L	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Missense_Mutation_p.P242L	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	242	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				GTAAATGCTGGGGAGGTCTGG	0.498													A	43679606	G	A	43679606	3	1	77	1	0	0	0	0	1	0	0	0	12743	1232	43	2	290	2	PSG5	19	43679606	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	28687682	43679606	15449377	76	5110											
LENG8	114823	broad.mit.edu	37	chr19	54969780	54969780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagaccagctcctggcCgcaggcctcccccagccccc	5	4	8	24	1	1	1	1	0	0	1	3	1	3	1	9	2	2	2	9	2	0	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:54969780C>T	uc002qfv.1	+	13	2353	c.2209C>T	c.(2209-2211)Cgc>Tgc	p.R737C	LENG8_uc002qfw.2_Intron|LENG8_uc021vbk.1_5'Flank			Q96PV6	LENG8_HUMAN	Homo sapiens leukocyte receptor cluster (LRC) member 8 (LENG8), mRNA.	740							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGCTCCTGGCCGCAGGCCTCC	0.602													T	54969780	C	T	54969780	3	4	77	1	0	0	0	0	1	0	0	0	8783	667	23	1		1	LENG8	19	54969780	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	11290174	54969780	4159203	77	5111											
KIR3DL2	3805	broad.mit.edu	37	chr19	55316286	55316286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctctgcctggcccagcGctgtggtgcctcaaggagga	5	9	14	13	1	3	0	1	0	2	0	3	2	3	2	3	4	4	2	3	4	1	0			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:55316286G>A	uc010yfl.2	+	2	142	c.109G>A	c.(109-111)Gct>Act	p.A37T	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc002qhf.3_Intron|KIR3DL2_uc002qhg.3_Missense_Mutation_p.A39T|KIR3DL2_uc002qhi.3_Missense_Mutation_p.A39T|KIR3DL2_uc021vbn.1_Missense_Mutation_p.A39T|KIR3DL2_uc002qhh.3_Intron|KIR3DL2_uc002qhj.3_Missense_Mutation_p.A39T|KIR3DL2_uc010esd.3_Missense_Mutation_p.A39T|KIR3DL2_uc010ese.3_5'Flank	NM_002255	NP_002246	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4 (KIR2DL4), transcript variant 1, mRNA.	132					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGGCCCAGCGCTGTGGTGCC	0.582													A	55316286	G	A	55316286	3	1	77	1	0	0	0	0	1	0	0	0	8379	1087	38	1		1	KIR3DL2	19	55316286	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	346506	55316286	3812697	78	5112											
NLRP4	147945	broad.mit.edu	37	chr19	56369522	56369522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgacttgatggagaaaCggccggtgcaggtgcttctg	7	10	17	7	2	1	3	0	2	1	1	1	4	1	3	1	5	3	2	1	5	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr19:56369522C>T	uc002qmd.4	+	2	1185	c.763C>T	c.(763-765)Cgg>Tgg	p.R255W	NLRP4_uc002qmf.3_Missense_Mutation_p.R180W|NLRP4_uc010etf.3_Missense_Mutation_p.R86W	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	255	NACHT.						ATP binding	p.R255R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GATGGAGAAACGGCCGGTGCA	0.577													T	56369522	C	T	56369522	3	4	77	1	0	0	0	0	1	0	0	0	10555	527	19	1	769	1	NLRP4	19	56369522	Missense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08	1053236	56369522	2759461	79	5113											
MAPK1	5594	broad.mit.edu	37	chr22	22142672	22142672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgtgatggggatccaaGaatacctatcagataaaaaa	16	11	8	6	0	2	3	1	1	1	2	3	4	3	4	2	2	1	0	2	2	7	5			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:22142672G>A	uc002zvn.3	-	5	970	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F	MAPK1_uc002zvo.3_Missense_Mutation_p.L244F|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	244	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	GGGGATCCAAGAATACCTATC	0.353													A	22142672	G	A	22142672	3	1	77	1	0	0	0	0	1	0	0	0	9346	942	33	2	364	2	MAPK1	22	22142672	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08		22142672	29161894	80	5114											
IL2RB	3560	broad.mit.edu	37	chr22	37524496	37524496	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggccaccgaggagactGggggagaagagcagcaggtc	10	3	19	9	1	0	3	0	0	0	3	1	6	0	3	2	6	2	2	2	6	1	0	rs143704470		TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chr22:37524496G>T	uc003aqv.1	-	9	1427	c.1296C>A	c.(1294-1296)ccC>ccA	p.P432P		NM_000878	NP_000869	P14784	IL2RB_HUMAN	Homo sapiens interleukin 2 receptor, beta (IL2RB), mRNA.	432					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CGAGGAGACTGGGGGAGAAGA	0.662													T	37524496	G	T	37524496	2	4	77	1	0	0	0	0	0	0	0	1	7745	1335	47	4		4	IL2RB	22	37524496	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	15381824	37524496	13780070	81	5115											
BCOR	54880	broad.mit.edu	37	chrX	39923055	39923055	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgacacctgctgctccCatcgttctctaaggtgcagc	6	10	9	16	2	1	0	0	0	1	0	4	1	2	0	3	1	5	4	3	1	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:39923055C>T	uc004den.4	-	7	3945	c.3653G>A	c.(3652-3654)tGg>tAg	p.W1218*	BCOR_uc004dep.4_Nonsense_Mutation_p.W1184*|BCOR_uc004deo.4_Nonsense_Mutation_p.W1166*|BCOR_uc010nhb.3_5'Flank|BCOR_uc004dem.4_Nonsense_Mutation_p.W1184*	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1218					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGCTGCTCCCATCGTTCTCT	0.542			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39923055	C	T	39923055	4	4	77	1	0	0	0	0	0	1	0	0	1391	595	21	2	1646	2	BCOR	23	39923055	Nonsense_Mutation	SNP	C	TCGA-06-2559-01A-01D-1494-08		39923055	115347505	82	5116											
TAF1	6872	broad.mit.edu	37	chrX	70680612	70680612	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtcctatgagggagaCggtggggaggcttcccatgg	8	9	17	7	1	0	3	0	2	0	1	2	5	2	4	2	6	0	1	2	6	1	2			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:70680612C>T	uc004dzu.4	+	36	5406	c.5355C>T	c.(5353-5355)gaC>gaT	p.D1785D	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.D1806D|TAF1_uc004dzv.4_Silent_p.D993D|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Silent_p.D210D|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1785	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATGAGGGAGACGGTGGGGAGG	0.507													T	70680612	C	T	70680612	2	4	77	1	0	0	0	0	0	0	0	1	15610	535	19	1		1	TAF1	23	70680612	Silent	SNP	C	TCGA-06-2559-01A-01D-1494-08	30757557	70680612	84589948	83	5117											
CYLC1	1538	broad.mit.edu	37	chrX	83128394	83128394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagaaagatttgaagagGtcaaagactagtaatgatcc	18	8	9	6	0	1	6	1	2	0	4	2	6	2	6	2	1	0	1	2	1	6	3			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:83128394G>A	uc004eei.1	+	3	699	c.678G>A	c.(676-678)agG>agA	p.R226R	CYLC1_uc004eeh.1_Silent_p.R225R	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	226					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ATTTGAAGAGGTCAAAGACTA	0.318													A	83128394	G	A	83128394	2	1	77	1	0	0	0	0	0	0	0	1	4174	1252	44	2		2	CYLC1	23	83128394	Silent	SNP	G	TCGA-06-2559-01A-01D-1494-08	12447782	83128394	72142166	84	5118											
PCDH11X	27328	broad.mit.edu	37	chrX	91132792	91132792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattcagcctggattgtcGtacaggcatgctgactgtag	9	12	12	8	1	1	2	1	2	0	0	2	3	1	3	1	2	3	4	1	2	3	4			TCGA-06-2559-01A-01D-1494-08	TCGA-06-2559-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8df5560b-9f8f-4636-bdb2-1af8b45df1ba	3b989d83-d6cc-41a8-bf7b-b3e50adb99ea	g.chrX:91132792G>A	uc004efk.2	+	1	2398	c.1553G>A	c.(1552-1554)cGt>cAt	p.R518H	PCDH11X_uc004efl.2_Missense_Mutation_p.R518H|PCDH11X_uc010nmv.2_Missense_Mutation_p.R518H|PCDH11X_uc004efm.2_Missense_Mutation_p.R518H|PCDH11X_uc004efn.2_Missense_Mutation_p.R518H|PCDH11X_uc004efo.2_Missense_Mutation_p.R518H|PCDH11X_uc004efh.2_Missense_Mutation_p.R518H|PCDH11X_uc004efj.1_Missense_Mutation_p.R518H	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	518	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.R518S(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGGATTGTCGTACAGGCATG	0.433													A	91132792	G	A	91132792	3	1	77	1	0	0	0	0	1	0	0	0	11584	1145	40	1	1559	1	PCDH11X	23	91132792	Missense_Mutation	SNP	G	TCGA-06-2559-01A-01D-1494-08	8004398	91132792	64137768	85	5119											
PUM1	9698	broad.mit.edu	37	chr1	31409615	31409615	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccgtcgttcatggtgcAcacctcatcgatgagcacag	9	8	12	12	3	2	1	2	1	0	0	4	3	2	2	2	2	2	3	2	2	0	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:31409615A>C	uc001bsi.1	-	20	3417	c.3304T>G	c.(3304-3306)Tgc>Ggc	p.C1102G	PUM1_uc001bsf.1_Missense_Mutation_p.C770G|PUM1_uc001bsh.1_Missense_Mutation_p.C1104G|PUM1_uc001bsj.1_Missense_Mutation_p.C1078G|PUM1_uc010oga.1_Missense_Mutation_p.C960G|PUM1_uc001bsk.1_Missense_Mutation_p.C1140G|PUM1_uc010ogb.1_Missense_Mutation_p.C1043G|SNORD103A_uc021okk.1_5'Flank	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1102	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		TTCATGGTGCACACCTCATCG	0.522													C	31409615	A	C	31409615	3	2	78	1	0	0	0	0	1	0	0	0	12913	159	6	5	264	5	PUM1	1	31409615	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08		31409615	217841006	1	5120											
SOAT1	6646	broad.mit.edu	37	chr1	179304764	179304764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacaaccttttctgttcttGaaggagagaaaaacaaccat	15	11	6	9	0	3	2	1	1	2	1	3	4	3	3	2	1	3	1	2	1	5	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304764G>A	uc001gml.3	+	3	532	c.301G>A	c.(301-303)Gaa>Aaa	p.E101K	SOAT1_uc010pni.2_Missense_Mutation_p.E36K|SOAT1_uc001gmm.3_Missense_Mutation_p.E43K|SOAT1_uc010pnj.2_5'UTR|SOAT1_uc010pnk.2_Missense_Mutation_p.E36K	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	101					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTCTGTTCTTGAAGGAGAGAA	0.393													A	179304764	G	A	179304764	3	1	78	1	0	0	0	0	1	0	0	0	15004	1291	45	2	311	2	SOAT1	1	179304764	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	147895149	179304764	69945857	2	5121			1	14		2	2	30	G		4.309145e-05
SOAT1	6646	broad.mit.edu	37	chr1	179304793	179304793	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacaaccatagagcgaaGtaagtatgtgctattttctt	16	12	7	6	1	1	1	0	0	1	1	1	2	1	1	1	0	4	3	1	0	8	7			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:179304793G>C	uc001gml.3	+	4	560	c.329_splice	c.e4+1	p.K110_splice	SOAT1_uc010pni.2_Splice_Site_p.K45_splice|SOAT1_uc001gmm.3_Splice_Site_p.K52_splice|SOAT1_uc010pnj.2_Splice_Site|SOAT1_uc010pnk.2_Splice_Site_p.K45_splice	NM_003101	NP_003092	P35610	SOAT1_HUMAN	Homo sapiens sterol O-acyltransferase 1 (SOAT1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	110					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	ATAGAGCGAAGTAAGTATGTG	0.398													C	179304793	G	C	179304793	5	2	78	1	0	0	0	0	0	0	1	0	15004	1043	36	4	340	4	SOAT1	1	179304793	Splice_Site	SNP	G	TCGA-06-2561-01A-02D-1494-08	29	179304793	69945828	3	5122			1	14		2	2	30	G		4.309145e-05
KCNT2	343450	broad.mit.edu	37	chr1	196398829	196398829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacaatgcagaaataaaGggagtcaaagagattcagct	17	7	10	7	1	3	2	3	0	0	2	3	4	3	3	0	1	2	2	0	1	5	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr1:196398829G>T	uc001gtd.1	-	8	757	c.697C>A	c.(697-699)Ctt>Att	p.L233I	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.L233I|KCNT2_uc001gtf.1_Missense_Mutation_p.L233I|KCNT2_uc001gtg.1_Intron|KCNT2_uc009wyu.3_Missense_Mutation_p.L233I|KCNT2_uc009wyv.1_Missense_Mutation_p.L208I	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	233						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.S232F(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGAAATAAAGGGAGTCAAAG	0.393													T	196398829	G	T	196398829	3	4	78	1	0	0	0	0	1	0	0	0	8150	1000	35	4	2790	4	KCNT2	1	196398829	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	17094036	196398829	52851792	4	5123											
BCL11A	53335	broad.mit.edu	37	chr2	60679781	60679781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctctctgggtactacgccGaatgggggtgtgtgaagaac	9	9	15	8	2	1	2	0	1	1	1	2	3	1	2	1	3	4	2	1	3	5	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:60679781G>A	uc002sab.3	-	4	2479	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W	BCL11A_uc002sac.3_Silent_p.F217F|BCL11A_uc010ypi.2_Missense_Mutation_p.R420W|BCL11A_uc010ypj.2_Silent_p.F767F	NM_018014	NP_060484	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 2, mRNA.	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GTACTACGCCGAATGGGGGTG	0.498			T	IGH@	B-CLL								A	60679781	G	A	60679781	3	1	78	1	0	0	0	0	1	0	0	0	1368	1058	37	1	84	1	BCL11A	2	60679781	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		60679781	182519592	5	5124											
ALMS1	7840	broad.mit.edu	37	chr2	73717955	73717955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaggtcaggattctataGcttcagaccttccgtctccc	8	12	7	14	1	5	1	3	0	2	1	7	2	6	2	3	2	1	1	3	2	3	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717955G>C	uc002sje.1	+	9	8977	c.8866G>C	c.(8866-8868)Gct>Cct	p.A2956P	ALMS1_uc002sjf.1_Missense_Mutation_p.A2914P|ALMS1_uc002sjg.3_Missense_Mutation_p.A2344P|ALMS1_uc002sjh.1_Missense_Mutation_p.A2344P	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2956					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GGATTCTATAGCTTCAGACCT	0.438													C	73717955	G	C	73717955	3	2	78	1	0	0	0	0	1	0	0	0	535	971	34	4	8904	4	ALMS1	2	73717955	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	13038174	73717955	169481418	6	5125			2	15		2	2	31	G		4.457733e-05
ALMS1	7840	broad.mit.edu	37	chr2	73717985	73717985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgtctcccatttctcttGaacaatgccaaagcaaagcg	11	11	6	13	2	2	1	0	1	2	0	5	1	3	1	3	0	4	1	3	0	4	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:73717985G>C	uc002sje.1	+	9	9007	c.8896G>C	c.(8896-8898)Gaa>Caa	p.E2966Q	ALMS1_uc002sjf.1_Missense_Mutation_p.E2924Q|ALMS1_uc002sjg.3_Missense_Mutation_p.E2354Q|ALMS1_uc002sjh.1_Missense_Mutation_p.E2354Q	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	2966					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTCTCTTGAACAATGCCA	0.428													C	73717985	G	C	73717985	3	2	78	1	0	0	0	0	1	0	0	0	535	1291	45	4	8934	4	ALMS1	2	73717985	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	30	73717985	169481388	7	5126			2	15		2	2	31	G		4.457733e-05
TTN	7273	broad.mit.edu	37	chr2	179623871	179623871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatggcttgattttcttGtctttgctgtaccacgacac	7	15	9	10	2	2	2	0	1	2	1	2	4	2	2	1	1	2	3	1	1	1	6			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:179623871G>T	uc021vsy.1	-	43	10368	c.10143C>A	c.(10141-10143)gaC>gaA	p.D3381E	TTN_uc021vsz.1_Missense_Mutation_p.D3335E|TTN_uc021vta.1_Missense_Mutation_p.D3335E|TTN_uc021vtb.1_Missense_Mutation_p.D3335E|TTN_uc002umz.1_Missense_Mutation_p.D42E|TTN_uc002unb.2_Missense_Mutation_p.D3381E	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4324	Ig-like 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTTCTTGTCTTTGCTGT	0.368													T	179623871	G	T	179623871	3	4	78	1	0	0	0	0	1	0	0	0	16837	1368	48	4	101121	4	TTN	2	179623871	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	105905886	179623871	63575502	8	5127											
AOX1	316	broad.mit.edu	37	chr2	201527627	201527627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggcgaaggccagcccttcGaatactttgtttatggagct	10	11	11	9	2	0	0	0	0	0	0	1	3	0	1	2	3	3	2	2	3	5	5	rs142723794	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:201527627G>A	uc002uvx.3	+	30	3579	c.3478G>A	c.(3478-3480)Gaa>Aaa	p.E1160K	AOX1_uc010zhf.2_Missense_Mutation_p.E716K|AOX1_uc010fsu.3_Missense_Mutation_p.E526K	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1160					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CCAGCCCTTCGAATACTTTGT	0.483													A	201527627	G	A	201527627	3	1	78	1	0	0	0	0	1	0	0	0	731	1059	37	1	3600	1	AOX1	2	201527627	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	21903756	201527627	41671746	9	5128											
CREB1	1385	broad.mit.edu	37	chr2	208434967	208434971	+	Frame_Shift_Del	DEL	GAAGA	GAAGA	-																															ggattgaagaagagaagtctGaagaggagacttcagcacct																										TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:208434967_208434971delGAAGA	uc002vcc.3	+	5	720_724	c.469_473delGAAGA	c.(469-474)gaagagfs	p.E157fs	CREB1_uc010ziz.1_Frame_Shift_Del_p.E141fs|CREB1_uc002vcd.3_Frame_Shift_Del_p.E143fs|CREB1_uc010zja.1_Non-coding_Transcript	NM_134442	NP_604391	P16220	CREB1_HUMAN	Homo sapiens cAMP responsive element binding protein 1 (CREB1), transcript variant B, mRNA.	157	KID.				activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|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		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	AGAGAAGTCTGAAGAGGAGACTTCA	0.371			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"								-	208434971	GAAGA	-	208434967	7	5	78	1	0	1	0	1	0	0	0	0	3885	1291	45	0	487	0	CREB1	2	208434967	Frame_Shift_Del	DEL	GAAGA	TCGA-06-2561-01A-02D-1494-08	6907340	208434967	34764406	10	5129											
XRCC5	7520	broad.mit.edu	37	chr2	216995664	216995664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacaaatgaaatataaatCggaggggaagtgcttctctg	15	9	12	5	1	1	1	0	1	1	0	3	4	1	4	0	4	2	1	0	4	7	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr2:216995664C>T	uc002vfy.3	+	8	1144	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	XRCC5_uc002vfz.3_Missense_Mutation_p.S221L	NM_021141	NP_066964	P13010	XRCC5_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining) (XRCC5), mRNA.	335	Ku.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		AAATATAAATCGGAGGGGAAG	0.368								Non-homologous end-joining					T	216995664	C	T	216995664	3	4	78	1	0	0	0	0	1	0	0	0	17558	893	31	1	1038	1	XRCC5	2	216995664	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	8560697	216995664	26203709	11	5130											
SRGAP3	9901	broad.mit.edu	37	chr3	9055068	9055068	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggggaagatggcttCatgatggatgatgatggttt	8	12	18	3	0	1	4	1	3	0	1	1	6	1	6	0	7	0	3	0	7	1	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:9055068C>A	uc003brf.1	-	16	2747	c.2071G>T	c.(2071-2073)Gaa>Taa	p.E691*	SRGAP3_uc003brg.1_Nonsense_Mutation_p.E667*	NM_014850	NP_055665	O43295	SRGP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 3 (SRGAP3), transcript variant 1, mRNA.	691					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		AAGATGGCTTCATGATGGATG	0.512			T	RAF1	pilocytic astrocytoma								A	9055068	C	A	9055068	4	1	78	1	0	0	0	0	0	1	0	0	15243	835	29	4	1252	4	SRGAP3	3	9055068	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		9055068	188967362	12	5131											
FANCD2	2177	broad.mit.edu	37	chr3	10107617	10107617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgtctgctaaagagcgttCattcatgtgttctctcatat	9	16	7	9	1	5	1	3	0	2	1	6	1	5	1	0	0	2	3	0	0	3	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr3:10107617C>T	uc003buw.3	+	24	2417	c.2339C>T	c.(2338-2340)tCa>tTa	p.S780L	FANCD2_uc003bux.1_Missense_Mutation_p.S780L|FANCD2_uc003buy.1_Missense_Mutation_p.S780L|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	780					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGAGCGTTCATTCATGTGT	0.403			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	10107617	C	T	10107617	3	4	78	1	0	0	0	0	1	0	0	0	5714	838	29	2	2433	2	FANCD2	3	10107617	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	1052549	10107617	187914813	13	5132											
KIAA1211	57482	broad.mit.edu	37	chr4	57189557	57189557	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacagagaagccgatgcttCagagcagacactccttagat	13	7	9	12	1	1	4	1	0	0	4	2	6	2	4	3	0	3	2	3	0	2	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:57189557C>T	uc003hbk.2	+	8	3593	c.3202C>T	c.(3202-3204)Cag>Tag	p.Q1068*	KIAA1211_uc010iha.2_Nonsense_Mutation_p.Q1061*	NM_020722	NP_065773	Q6ZU35	K1211_HUMAN	Homo sapiens KIAA1211 (KIAA1211), mRNA.	1068										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					GCCGATGCTTCAGAGCAGACA	0.468													T	57189557	C	T	57189557	4	4	78	1	0	0	0	0	0	1	0	0	8273	827	29	2	3224	2	KIAA1211	4	57189557	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		57189557	133964719	14	5133											
ALB	213	broad.mit.edu	37	chr4	74283255	74283255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttttcaggctattaGttcgttacaccaagaaagta	11	17	6	7	1	2	1	1	0	1	1	3	1	2	1	1	1	1	4	1	1	6	9	rs141626688		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr4:74283255G>T	uc003hgs.4	+	10	1370	c.1297G>T	c.(1297-1299)Gtt>Ttt	p.V433F	ALB_uc011cbe.2_Missense_Mutation_p.V112F|ALB_uc003hgw.4_Missense_Mutation_p.V241F|ALB_uc011cbf.2_Missense_Mutation_p.V323F	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	433	Albumin 3.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CAGGCTATTAGTTCGTTACAC	0.398													T	74283255	G	T	74283255	3	4	78	1	0	0	0	0	1	0	0	0	486	1029	36	4	1339	4	ALB	4	74283255	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	17093698	74283255	116871021	15	5134											
ATP10B	23120	broad.mit.edu	37	chr5	160063304	160063304	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcaaaggtcccattcCagatgctgtgacctgagagg	9	11	11	10	0	2	3	1	2	1	2	4	4	4	3	3	2	1	2	3	2	1	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr5:160063304C>T	uc003lym.1	-	10	1860	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	ATP10B_uc003lyp.2_Nonsense_Mutation_p.W338*|ATP10B_uc011deg.1_Nonsense_Mutation_p.W382*|ATP10B_uc003lyn.3_5'Flank|ATP10B_uc003lyo.2_Nonsense_Mutation_p.W310*	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	338					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCATTCCAGATGCTGTG	0.498													T	160063304	C	T	160063304	4	4	78	1	0	0	0	0	0	1	0	0	1122	595	21	2	3436	2	ATP10B	5	160063304	Nonsense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		160063304	20851956	16	5135											
CLIC5	53405	broad.mit.edu	37	chr6	45882089	45882089	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaatctcctctggtagaGgggtgttcaggtagtcatcc	7	12	12	10	1	5	1	3	0	2	1	7	1	6	1	2	4	0	3	2	4	3	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:45882089G>C	uc003oxv.3	-	4	1047	c.941C>G	c.(940-942)cCt>cGt	p.P314R	CLIC5_uc003oxu.3_Missense_Mutation_p.P155R|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Missense_Mutation_p.P155R	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	314	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CTCTGGTAGAGGGGTGTTCAG	0.512													C	45882089	G	C	45882089	3	2	78	1	0	0	0	0	1	0	0	0	3560	1000	35	4	299	4	CLIC5	6	45882089	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		45882089	125232978	17	5136											
SNAP91	9892	broad.mit.edu	37	chr6	84284736	84284736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgctacataccaaaggtGcacttggtggaacgcctgct	10	10	11	10	1	0	0	0	0	0	0	0	2	0	1	2	3	6	3	2	3	4	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr6:84284736G>A	uc021zcf.1	-	24	2465	c.2435C>T	c.(2434-2436)gCa>gTa	p.A812V	SNAP91_uc011dzd.2_Missense_Mutation_p.A310V|SNAP91_uc003pka.3_Missense_Mutation_p.A810V|SNAP91_uc011dze.2_Missense_Mutation_p.A810V|SNAP91_uc003pkc.3_Missense_Mutation_p.A782V|SNAP91_uc003pkd.3_Missense_Mutation_p.A505V|SNAP91_uc003pkb.3_Missense_Mutation_p.A721V	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	812	Pro-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TACCAAAGGTGCACTTGGTGG	0.522													A	84284736	G	A	84284736	3	1	78	1	0	0	0	0	1	0	0	0	14927	1319	46	2	304	2	SNAP91	6	84284736	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	38402647	84284736	86830331	18	5137											
EGFR	1956	broad.mit.edu	37	chr7	55214319	55214319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcctgcatggcgccgtgCggttcagcaacaaccctgcc	9	7	10	15	3	1	0	1	0	0	0	2	0	2	0	4	2	6	3	4	2	3	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:55214319C>T	uc003tqk.3	+	3	691	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	EGFR_uc003tqh.3_Missense_Mutation_p.R149W|EGFR_uc003tqi.3_Missense_Mutation_p.R149W|EGFR_uc003tqj.3_Missense_Mutation_p.R149W|EGFR_uc022adm.1_Missense_Mutation_p.R149W|EGFR_uc010kzg.2_Intron|EGFR_uc022adn.1_Intron|EGFR_uc011kco.2_Missense_Mutation_p.R96W	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	149					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGGCGCCGTGCGGTTCAGCAA	0.532		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55214319	C	T	55214319	3	4	78	1	0	0	0	0	1	0	0	0	5006	759	27	1	459	1	EGFR	7	55214319	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		55214319	103924344	19	5138											
PIK3CG	5294	broad.mit.edu	37	chr7	106508473	106508473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagcggcagctcacggCgctgattggctatgacgtca	7	9	12	13	4	2	2	2	2	0	0	3	2	3	2	1	3	2	4	1	3	1	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr7:106508473C>T	uc003vdv.4	+	1	552	c.467C>T	c.(466-468)gCg>gTg	p.A156V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A156V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A156V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	156					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.T155T(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAGCTCACGGCGCTGATTGGC	0.682													T	106508473	C	T	106508473	3	4	78	1	0	0	0	0	1	0	0	0	11993	768	27	1	469	1	PIK3CG	7	106508473	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	51294154	106508473	52630190	20	5139											
POLR3D	661	broad.mit.edu	37	chr8	22106786	22106786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaggtgcagggcgaggaCggacaggtggtgctcatcaa	11	5	17	8	2	2	1	2	0	0	1	2	4	2	3	0	6	2	2	0	6	1	0	rs139222181	byFrequency	TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr8:22106786C>T	uc003xbl.3	+	6	968	c.885C>T	c.(883-885)gaC>gaT	p.D295D	POLR3D_uc003xbm.3_Silent_p.D295D|POLR3D_uc011kze.2_Intron	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	295					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		AGGGCGAGGACGGACAGGTGG	0.597													T	22106786	C	T	22106786	2	4	78	1	0	0	0	0	0	0	0	1	12308	535	19	1		1	POLR3D	8	22106786	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08		22106786	124257236	21	5140											
MLLT3	4300	broad.mit.edu	37	chr9	20448206	20448206	+	Frame_Shift_Del	DEL	G	G	-																															agcggaggtgattcactggtGgatggccttcaagatgcagg																										TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:20448206delG	uc003zoe.2	-	3	594	c.335delC	c.(334-336)ccafs	p.P112fs	MLLT3_uc011lne.1_Frame_Shift_Del_p.P80fs|MLLT3_uc011lnf.1_Frame_Shift_Del_p.P109fs|MLLT3_uc003zof.3_Intron	NM_004529	NP_004520	P42568	AF9_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (MLLT3), mRNA.	112	YEATS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		ATTCACTGGTGGATGGCCTTC	0.448			T	MLL	ALL								-	20448206	G	-	20448206	7	5	78	1	0	1	0	1	0	0	0	0	9703	1348	47	0	1403	0	MLLT3	9	20448206	Frame_Shift_Del	DEL	G	TCGA-06-2561-01A-02D-1494-08		20448206	120765225	22	5141											
OR1B1	347169	broad.mit.edu	37	chr9	125391091	125391091	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggtggagactgctcGgcggcgaccagcagctgaag	9	5	15	12	3	0	2	0	1	0	1	2	4	1	2	2	4	3	3	2	4	1	0			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr9:125391091G>A	uc011lyz.2	-	0	724	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001004450	NP_001004450	Q8NGR6	OR1B1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily B, member 1 (OR1B1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R241C(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)	16						GAGACTGCTCGGCGGCGACCA	0.557													A	125391091	G	A	125391091	4	1	78	1	0	0	0	0	0	1	0	0	11027	1124	39	1	235	1	OR1B1	9	125391091	Nonsense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	104942885	125391091	15822340	23	5142											
PTEN	5728	broad.mit.edu	37	chr10	89720799	89720802	+	Frame_Shift_Del	DEL	TACT	TACT	-																															taatgacaaggaatatctagTacttactttaacaaaaaatg																										TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr10:89720799_89720802delTACT	uc001kfb.3	+	7	1982_1985	c.950_953delTACT	c.(949-954)gtacttfs	p.V317fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	317	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L318fs*2(49)|p.0?(37)|p.T319fs*1(12)|p.V317fs*3(8)|p.R55fs*1(5)|p.V317fs*6(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.L318F(2)|p.T318fs*2(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAATATCTAGTACTTACTTTAACA	0.333	V317fs*3(EVSAT_BREAST)|V317fs*3(IGROV1_OVARY)|V317fs*3(ISHIKAWAHERAKLIO02ER_ENDOMETRIUM)|V317fs*3(SKUT1_SOFT_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720802	TACT	-	89720799	7	5	78	1	0	1	0	1	0	0	0	0	12823	1638	57	0	980	0	PTEN	10	89720799	Frame_Shift_Del	DEL	TACT	TCGA-06-2561-01A-02D-1494-08		89720799	45813948	24	5143											
MEN1	4221	broad.mit.edu	37	chr11	64575552	64575552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacagcaaaggccacaccGgagctgtccaatttggtgcc	11	6	10	14	1	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	2	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:64575552G>A	uc001obj.3	-	2	553	c.480C>T	c.(478-480)tcC>tcT	p.S160S	MEN1_uc001obk.3_Silent_p.S160S|MEN1_uc001obl.3_Silent_p.S155S|MEN1_uc001obm.3_Silent_p.S155S|MEN1_uc001obn.3_Silent_p.S160S|MEN1_uc001obo.3_Silent_p.S160S|MEN1_uc001obq.3_Silent_p.S160S|MEN1_uc001obr.3_Silent_p.S160S	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	160			S -> F (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.F159C(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						AGGCCACACCGGAGCTGTCCA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				A	64575552	G	A	64575552	2	1	78	1	0	0	0	0	0	0	0	1	9547	1103	39	1		1	MEN1	11	64575552	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08		64575552	70430964	25	5144											
MTNR1B	4544	broad.mit.edu	37	chr11	92715286	92715286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctacttactggcttatttCaacagctgcctgaatgccat	10	13	7	11	0	1	1	1	1	0	0	1	1	1	1	2	1	7	3	2	1	5	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr11:92715286C>T	uc001pdk.1	+	1	1000	c.897C>T	c.(895-897)ttC>ttT	p.F299F		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	299					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TGGCTTATTTCAACAGCTGCC	0.522													T	92715286	C	T	92715286	2	4	78	1	0	0	0	0	0	0	0	1	10028	825	29	2		2	MTNR1B	11	92715286	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08	28139734	92715286	42291230	26	5145											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	78	1	0	0	0	0	1	0	0	0	8496	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		25398284	108453611	27	5146											
ADCY6	112	broad.mit.edu	37	chr12	49169145	49169145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgcacatggtccttccGcagctgatcaatgctgcggg	6	8	13	14	4	1	1	1	1	0	0	3	1	3	1	3	3	3	4	3	3	1	1			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:49169145G>A	uc001rsh.4	-	9	2581	c.1921C>T	c.(1921-1923)Cgg>Tgg	p.R641W	ADCY6_uc001rsi.4_Missense_Mutation_p.R641W|ADCY6_uc001rsj.4_Missense_Mutation_p.R641W|ADCY6_uc010slw.1_5'Flank	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	641					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.R641L(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGTCCTTCCGCAGCTGATCA	0.597													A	49169145	G	A	49169145	3	1	78	1	0	0	0	0	1	0	0	0	298	1086	38	1	1633	1	ADCY6	12	49169145	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	23770861	49169145	84682750	28	5147											
SLC5A8	160728	broad.mit.edu	37	chr12	101555815	101555815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttccaacagtgctgaagtAcagatatgataaagaatacc	17	9	8	7	0	0	4	0	2	0	2	1	4	1	4	2	0	4	3	2	0	8	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr12:101555815A>G	uc001thz.4	-	12	1957	c.1567T>C	c.(1567-1569)Tac>Cac	p.Y523H		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	523					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGAAGTACAGATATGAT	0.358													G	101555815	A	G	101555815	3	3	78	1	0	0	0	0	1	0	0	0	14765	391	14	3	277	3	SLC5A8	12	101555815	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	52386670	101555815	32296080	29	5148											
DYX1C1	161582	broad.mit.edu	37	chr15	55790519	55790520	+	Frame_Shift_Del	DEL	AA	AA	-																															cagctgtaatcgctaacctgAagaggcattccggtagcaac																										TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:55790519_55790520delAA	uc002adc.3	-	1	376_377	c.8_9delTT	c.(7-9)cttfs	p.L3fs	CCPG1_uc002acy.3_5'UTR|CCPG1_uc010ugh.1_Non-coding_Transcript|CCPG1_uc010ugi.2_Non-coding_Transcript|DYX1C1_uc002adb.3_Frame_Shift_Del_p.L3fs|DYX1C1_uc002add.3_Frame_Shift_Del_p.L3fs	NM_130810	NP_570722	Q8WXU2	DYXC1_HUMAN	Homo sapiens dyslexia susceptibility 1 candidate 1 (DYX1C1), transcript variant 1, mRNA.	3	CS.				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CGCTAACCTGAAGAGGCATTCC	0.599													-	55790520	AA	-	55790519	7	5	78	1	0	1	0	1	0	0	0	0	4901	233	9	0	1392	0	DYX1C1	15	55790519	Frame_Shift_Del	DEL	AA	TCGA-06-2561-01A-02D-1494-08		55790519	46740873	30	5149											
GOLGA6A	342096	broad.mit.edu	37	chr15	74365151	74365151	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggtggctggcagcttctAggtgctcctaaggggacggg	5	10	17	9	1	2	0	0	0	2	0	3	1	3	1	1	7	2	4	1	7	2	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:74365151A>C	uc002axa.1	-	12	1474	c.1433T>G	c.(1432-1434)cTa>cGa	p.L478R	DQ582073_uc021sqc.1_5'Flank|DQ596164_uc021sqd.1_5'Flank	NM_001038640	NP_001033729	Q9NYA3	GOG6A_HUMAN	Homo sapiens golgin A6 family, member A (GOLGA6A), mRNA.	478										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|liver(1)|lung(6)|prostate(1)|urinary_tract(1)	16						GGCAGCTTCTAGGTGCTCCTA	0.612													C	74365151	A	C	74365151	3	2	78	1	0	0	0	0	1	0	0	0	6613	420	15	5	672	5	GOLGA6A	15	74365151	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	18574632	74365151	28166241	31	5150											
TTLL13	440307	broad.mit.edu	37	chr15	90802040	90802040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtaaaggatgcacttctCtgtgatgctatgacccttgt	10	13	10	8	0	1	2	0	2	1	0	2	4	1	3	1	1	2	3	1	1	4	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr15:90802040C>T	uc002bpd.1	+	9	1521	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	TTLL13_uc002bpe.1_Non-coding_Transcript	NM_001029964	NP_001025135	A6NNM8	TTL13_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 13 (TTLL13), mRNA.	411	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	16	Melanoma(11;0.00551)|Lung NSC(78;0.0178)|all_lung(78;0.0378)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|BRCA - Breast invasive adenocarcinoma(143;0.0323)|Kidney(142;0.0514)			ATGCACTTCTCTGTGATGCTA	0.512													T	90802040	C	T	90802040	2	4	78	1	0	0	0	0	0	0	0	1	16828	900	32	2		2	TTLL13	15	90802040	Silent	SNP	C	TCGA-06-2561-01A-02D-1494-08	16436889	90802040	11729352	32	5151											
DNAH3	55567	broad.mit.edu	37	chr16	21145587	21145587	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggacttcttactctgcaaAccacagttctttcagcctga	10	12	7	12	0	4	1	1	1	3	0	4	2	4	2	2	1	4	2	2	1	2	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr16:21145587A>G	uc010vbe.2	-	6	1075	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	DNAH3_uc002die.2_Missense_Mutation_p.F330L	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	359	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACTCTGCAAACCACAGTTCT	0.527													G	21145587	A	G	21145587	3	3	78	1	0	0	0	0	1	0	0	0	4642	43	2	3	11498	3	DNAH3	16	21145587	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08		21145587	69209166	33	5152											
SPAG5	10615	broad.mit.edu	37	chr17	26911445	26911445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggtatgctgactctgtaGctcttttagctggctgtcca	6	15	11	9	0	2	1	0	1	2	0	3	1	3	1	1	2	3	6	1	2	3	4			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:26911445G>C	uc002hbq.3	-	11	2307	c.2215C>G	c.(2215-2217)Cta>Gta	p.L739V	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	739	Gln-rich.				cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TGACTCTGTAGCTCTTTTAGC	0.512													C	26911445	G	C	26911445	3	2	78	1	0	0	0	0	1	0	0	0	15077	962	34	4	1418	4	SPAG5	17	26911445	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		26911445	54283765	34	5153											
HNF1B	6928	broad.mit.edu	37	chr17	36065013	36065013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggctgtggatattcGtcaaggtgctgactgggggc	7	9	19	6	1	1	2	1	1	0	1	2	4	1	3	0	6	1	2	0	6	2	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:36065013G>A	uc002hok.4	-	5	1471	c.1250C>T	c.(1249-1251)aCg>aTg	p.T417M	HNF1B_uc021tvu.1_Missense_Mutation_p.T187M|HNF1B_uc010wdi.2_Missense_Mutation_p.T391M|HNF1B_uc021tvv.1_Missense_Mutation_p.T417M|HNF1B_uc021tvw.1_Missense_Mutation_p.T391M	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	417					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GTGGATATTCGTCAAGGTGCT	0.478													A	36065013	G	A	36065013	3	1	78	1	0	0	0	0	1	0	0	0	7307	1145	40	1	439	1	HNF1B	17	36065013	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	9153568	36065013	45130197	35	5154											
FBXL20	84961	broad.mit.edu	37	chr17	37431297	37431297	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcagccagaggcacaaagGgattgtaacttatggcaccc	13	6	12	10	0	0	1	0	0	0	1	0	3	0	2	2	3	3	4	2	3	3	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr17:37431297G>T	uc002hrt.3	-	9	1007	c.753C>A	c.(751-753)tcC>tcA	p.S251S	FBXL20_uc010cvu.3_Silent_p.S219S	NM_032875	NP_116264	Q96IG2	FXL20_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 20 (FBXL20), transcript variant 1, mRNA.	251						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			AGGCACAAAGGGATTGTAACT	0.403													T	37431297	G	T	37431297	2	4	78	1	0	0	0	0	0	0	0	1	5766	1219	43	4		4	FBXL20	17	37431297	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08	1366284	37431297	43763913	36	5155											
POTEC	388468	broad.mit.edu	37	chr18	14542851	14542851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagtgacagcaccacttgcCcatcttgctcctgagcgtct	7	10	9	15	1	2	2	0	2	2	0	3	2	3	2	3	0	4	3	3	0	0	2			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:14542851C>T	uc010dln.3	-	0	749	c.295G>A	c.(295-297)Ggc>Agc	p.G99S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	99										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CACCACTTGCCCATCTTGCTC	0.622													T	14542851	C	T	14542851	3	4	78	1	0	0	0	0	1	0	0	0	12339	623	22	2	1377	2	POTEC	18	14542851	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08		14542851	63534397	37	5156											
KCNG2	26251	broad.mit.edu	37	chr18	77659449	77659449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtgcacctggccgagcGcgagctgggcgcgcgccgcg	4	4	18	15	8	0	0	0	0	0	0	0	2	0	0	3	3	3	2	3	3	0	0			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr18:77659449G>A	uc010xfl.2	+	1	1034	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	345					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CTGGCCGAGCGCGAGCTGGGC	0.716													A	77659449	G	A	77659449	3	1	78	1	0	0	0	0	1	0	0	0	8086	1087	38	1	1040	1	KCNG2	18	77659449	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	63116598	77659449	417799	38	5157											
ITGB1BP3	27231	broad.mit.edu	37	chr19	3942189	3942189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagccccctccccggctcGcccagccaggacacagggac	8	3	10	20	2	1	0	1	0	0	0	3	2	2	2	6	3	2	1	6	3	0	0			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:3942189G>A	uc010xia.2	+	6	840	c.626G>A	c.(625-627)cGc>cAc	p.R209H	ITGB1BP3_uc002lyz.4_Missense_Mutation_p.R204H	NM_170678	NP_733778	Q9NPI5	NRK2_HUMAN	Homo sapiens integrin beta 1 binding protein 3 (ITGB1BP3), mRNA.	204					pyridine nucleotide biosynthetic process		ATP binding|metal ion binding|protein binding|ribosylnicotinamide kinase activity			central_nervous_system(1)|large_intestine(3)|lung(4)|skin(2)	10		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCCCGGCTCGCCCAGCCAGG	0.647													A	3942189	G	A	3942189	3	1	78	1	0	0	0	0	1	0	0	0	7951	1087	38	1	637	1	ITGB1BP3	19	3942189	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08		3942189	55186794	39	5158											
CCDC105	126402	broad.mit.edu	37	chr19	15132177	15132177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcagcgtgcgccttggCgctaaacgaagccaagcggt	9	8	13	11	5	0	0	0	0	0	0	0	1	0	0	2	2	6	2	2	2	4	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:15132177C>T	uc002nae.2	+	3	986	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	296					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						TGCGCCTTGGCGCTAAACGAA	0.597													T	15132177	C	T	15132177	3	4	78	1	0	0	0	0	1	0	0	0	2766	768	27	1	901	1	CCDC105	19	15132177	Missense_Mutation	SNP	C	TCGA-06-2561-01A-02D-1494-08	11189988	15132177	43996806	40	5159											
ZNF208	7757	broad.mit.edu	37	chr19	22155492	22155492	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttaaaagctttgccacAttcttcacatttgtagggtt	9	16	8	8	1	2	0	1	0	1	0	3	0	2	0	1	2	2	4	1	2	3	7			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr19:22155492A>C	uc021urr.1	-	3	2493	c.2344T>G	c.(2344-2346)Tgt>Ggt	p.C782G	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCTTTGCCACATTCTTCACAT	0.358													C	22155492	A	C	22155492	3	2	78	1	0	0	0	0	1	0	0	0	17867	217	8	5	1502	5	ZNF208	19	22155492	Missense_Mutation	SNP	A	TCGA-06-2561-01A-02D-1494-08	7023315	22155492	36973491	41	5160											
LIPI	149998	broad.mit.edu	37	chr21	15561699	15561699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatctctgaaggaatcctTtacacttagctgagagaatt	14	13	7	7	0	1	3	0	2	1	1	3	5	2	4	1	1	2	1	1	1	7	5			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chr21:15561699T>C	uc002yjm.3	-	1	161	c.151A>G	c.(151-153)Aag>Gag	p.K51E	LIPI_uc021whg.1_Non-coding_Transcript|LIPI_uc010gkw.2_Missense_Mutation_p.K30E|LIPI_uc021whh.1_Missense_Mutation_p.K30E|LIPI_uc021whi.1_Intron|LIPI_uc021whj.1_Missense_Mutation_p.K30E|LIPI_uc021whe.1_Missense_Mutation_p.K30E|LIPI_uc021whf.1_Missense_Mutation_p.K30E	NM_198996	NP_945347	Q6XZB0	LIPI_HUMAN	Homo sapiens lipase, member I (LIPI), mRNA.	30					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity	p.K51N(1)		endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		AAGGAATCCTTTACACTTAGC	0.358													C	15561699	T	C	15561699	3	2	78	1	0	0	0	0	1	0	0	0	8886	1850	64	3	1330	3	LIPI	21	15561699	Missense_Mutation	SNP	T	TCGA-06-2561-01A-02D-1494-08		15561699	32568196	42	5161											
NUDT11	55190	broad.mit.edu	37	chrX	51239120	51239120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcggaccgccgcaccGcccggctcctcctcgggctc	3	6	10	22	6	1	0	0	0	1	0	6	1	3	1	7	3	0	3	7	3	0	0			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:51239120G>A	uc010njt.3	-	0	340	c.177C>T	c.(175-177)ggC>ggT	p.G59G		NM_018159	NP_060629	Q96G61	NUD11_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 11 (NUDT11), mRNA.	59	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCGCCGCACCGCCCGGCTCCT	0.662										HNSCC(48;0.14)			A	51239120	G	A	51239120	2	1	78	1	0	0	0	0	0	0	0	1	10803	1074	38	1		1	NUDT11	23	51239120	Silent	SNP	G	TCGA-06-2561-01A-02D-1494-08		51239120	104031440	43	5162											
STAG2	10735	broad.mit.edu	37	chrX	123197901	123197901	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagattttctgcaagaGgtatatattataactattac	14	16	6	5	0	1	3	0	1	1	2	1	3	1	3	0	1	3	2	0	1	9	10			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:123197901G>C	uc004eua.3	+	20	2429	c.2025_splice	c.e20+1	p.E675_splice	STAG2_uc004etz.4_Splice_Site_p.E675_splice|STAG2_uc004eub.3_Splice_Site_p.E675_splice|STAG2_uc004euc.3_Splice_Site_p.E675_splice|STAG2_uc004eud.3_Splice_Site_p.E675_splice|STAG2_uc004eue.3_Splice_Site_p.E675_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	675					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCTGCAAGAGGTATATATTA	0.358													C	123197901	G	C	123197901	3	2	78	1	0	0	0	0	1	0	0	0	15339	1014	35	4	2095	4	STAG2	23	123197901	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	71958781	123197901	32072659	44	5163											
DDX26B	203522	broad.mit.edu	37	chrX	134679466	134679466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatttgttaaatctcaataGattaatatctggaatagaca	16	15	6	4	0	2	3	1	1	2	2	3	4	2	4	0	1	0	1	0	1	8	6			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134679466G>A	uc004eyw.4	+	2	671	c.308G>A	c.(307-309)aGa>aAa	p.R103K		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	103	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATCTCAATAGATTAATATCT	0.353													A	134679466	G	A	134679466	3	1	78	1	0	0	0	0	1	0	0	0	4387	942	33	2	318	2	DDX26B	23	134679466	Missense_Mutation	SNP	G	TCGA-06-2561-01A-02D-1494-08	11481565	134679466	20591094	45	5164											
SAGE1	55511	broad.mit.edu	37	chrX	134993470	134993470	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggagctggtatttcaTgcagaagtaccagggatctg	10	11	13	7	0	3	1	2	0	1	1	3	3	3	3	1	3	3	4	1	3	3	3			TCGA-06-2561-01A-02D-1494-08	TCGA-06-2561-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9898ad3-f9b6-4061-90ef-30e0eab0a706	3ba723ff-f198-433e-90f9-7bc0f3a0aa7a	g.chrX:134993470T>A	uc004ezh.3	+	16	2292	c.2125T>A	c.(2125-2127)Tgc>Agc	p.C709S	SAGE1_uc010nry.1_Missense_Mutation_p.C678S|SAGE1_uc011mvv.2_Missense_Mutation_p.C333S	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	709										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGGTATTTCATGCAGAAGTAC	0.453													A	134993470	T	A	134993470	3	1	78	1	0	0	0	0	1	0	0	0	13900	1464	51	5	2187	5	SAGE1	23	134993470	Missense_Mutation	SNP	T	TCGA-06-2561-01A-02D-1494-08	314004	134993470	20277090	46	5165											
FBLIM1	54751	broad.mit.edu	37	chr1	16093947	16093947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccaccccctccaccGccccctccagtgcttctgcc	3	8	4	26	1	1	0	0	0	1	0	5	0	5	0	10	0	2	1	10	0	0	1	rs138682032		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:16093947G>A	uc001axd.1	+	4	770	c.327G>A	c.(325-327)ccG>ccA	p.P109P	FBLIM1_uc001axe.1_Silent_p.P109P|FBLIM1_uc001axg.1_Silent_p.P109P|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	109	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		CCCCTCCACCGCCCCCTCCAG	0.657													A	16093947	G	A	16093947	2	1	79	1	0	0	0	0	0	0	0	1	5746	1074	38	1		1	FBLIM1	1	16093947	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		16093947	233156674	1	5166											
AKR7A3	22977	broad.mit.edu	37	chr1	19615062	19615062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggccctcgctgtacaCgaaggccgtgtctatctcgg	6	9	13	13	4	2	0	0	0	2	0	4	2	2	1	2	4	1	2	2	4	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:19615062C>G	uc001bbv.1	-	0	219	c.142G>C	c.(142-144)Gtg>Ctg	p.V48L		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	48					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCTGTACACGAAGGCCGTG	0.711													G	19615062	C	G	19615062	3	3	79	1	0	0	0	0	1	0	0	0	476	536	19	4	881	4	AKR7A3	1	19615062	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	3521115	19615062	229635559	2	5167											
HIPK1	204851	broad.mit.edu	37	chr1	114508833	114508833	+	Missense_Mutation	SNP	G	G	T																															gggtagctctacacaactctGtccagcccacagcaatgatt																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508833G>T	uc001eem.3	+	10	2481	c.2320G>T	c.(2320-2322)Gtc>Ttc	p.V774F	HIPK1_uc001eel.3_Missense_Mutation_p.V774F|HIPK1_uc001een.3_Missense_Mutation_p.V774F|HIPK1_uc001eeo.3_Missense_Mutation_p.V400F|HIPK1_uc001eep.3_Missense_Mutation_p.V380F|HIPK1_uc001eeq.3_Missense_Mutation_p.V66F	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACACAACTCTGTCCAGCCCAC	0.542													T	114508833	G	T	114508833	3	4	79	1	0	0	0	0	1	0	0	0	7171	1377	48	4	2376	4	HIPK1	1	114508833	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	94893771	114508833	134741788	3	5168	8	2									
HIPK1	204851	broad.mit.edu	37	chr1	114508840	114508840	+	Missense_Mutation	SNP	C	C	A																															tctacacaactctgtccagcCcacagcaatgattccagagg																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:114508840C>A	uc001eem.3	+	10	2488	c.2327C>A	c.(2326-2328)cCc>cAc	p.P776H	HIPK1_uc001eel.3_Missense_Mutation_p.P776H|HIPK1_uc001een.3_Missense_Mutation_p.P776H|HIPK1_uc001eeo.3_Missense_Mutation_p.P402H|HIPK1_uc001eep.3_Missense_Mutation_p.P382H|HIPK1_uc001eeq.3_Missense_Mutation_p.P68H	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTGTCCAGCCCACAGCAATG	0.552													A	114508840	C	A	114508840	3	1	79	1	0	0	0	0	1	0	0	0	7171	623	22	4	2383	4	HIPK1	1	114508840	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	7	114508840	134741781	4	5169	8	2									
GBA	2630	broad.mit.edu	37	chr1	155186783	155186783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaggagtgaaacgggaCgctgggccaactgcagggct	10	5	17	9	2	0	1	0	1	0	0	0	3	0	3	1	5	3	4	1	5	3	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:155186783C>T	uc001fjd.3	-	4	521	c.377G>A	c.(376-378)cGt>cAt	p.R126H	GBA_uc001fjf.4_Missense_Mutation_p.R87H|GBA_uc001fje.4_Missense_Mutation_p.R48H|GBA_uc021pau.1_Missense_Mutation_p.R48H			P04062	GLCM_HUMAN	Homo sapiens glucosidase, beta, acid pseudogene 1 (GBAP1), non-coding RNA.	209					carbohydrate metabolic process|cell death|cellular response to tumor necrosis factor|ceramide biosynthetic process|glucosylceramide catabolic process|lysosome organization|negative regulation of interleukin-6 production|negative regulation of MAP kinase activity|positive regulation of protein dephosphorylation|sphingosine biosynthetic process|termination of signal transduction	lysosomal lumen|lysosomal membrane	cation binding|glucosylceramidase activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	26	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)		Alglucerase(DB00088)|Imiglucerase(DB00053)	TGAAACGGGACGCTGGGCCAA	0.582									Gaucher disease type I				T	155186783	C	T	155186783	3	4	79	1	0	0	0	0	1	0	0	0	6320	551	19	1		1	GBA	1	155186783	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	40677943	155186783	94063838	5	5170											
SMG5	23381	broad.mit.edu	37	chr1	156235769	156235769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggggcccagtgggccaTtgagggaatcgggagcctct	7	7	16	11	1	1	1	0	1	1	0	2	3	1	3	3	5	1	0	3	5	1	1	rs151295845	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:156235769T>C	uc001foc.4	-	11	1807	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S		NM_015327	NP_056142	Q9UPR3	SMG5_HUMAN	Homo sapiens smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG5), mRNA.	553					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CAGTGGGCCATTGAGGGAATC	0.607													C	156235769	T	C	156235769	3	2	79	1	0	0	0	0	1	0	0	0	14890	1493	52	3	1436	3	SMG5	1	156235769	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	1048986	156235769	93014852	6	5171											
CADM3	57863	broad.mit.edu	37	chr1	159162382	159162382	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccagcccttcgagataatCgaattcagctggttacctct	9	11	7	14	2	2	1	1	0	1	1	4	3	2	1	4	1	3	2	4	1	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:159162382C>T	uc001ftl.2	+	2	423	c.244C>T	c.(244-246)Cga>Tga	p.R82*	CADM3_uc009wsx.1_Nonsense_Mutation_p.R116*|CADM3_uc009wsy.1_Nonsense_Mutation_p.R82*|CADM3_uc001ftk.2_Nonsense_Mutation_p.R116*	NM_001127173	NP_001120645	Q8N126	CADM3_HUMAN	Homo sapiens cell adhesion molecule 3 (CADM3), transcript variant 2, mRNA.	82	Ig-like V-type.				adherens junction organization|cell junction assembly|heterophilic cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	protein homodimerization activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(20)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55	all_hematologic(112;0.0429)					TCGAGATAATCGAATTCAGCT	0.512													T	159162382	C	T	159162382	4	4	79	1	0	0	0	0	0	1	0	0	2594	876	31	1	360	1	CADM3	1	159162382	Nonsense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2926613	159162382	90088239	7	5172											
PVRL4	81607	broad.mit.edu	37	chr1	161049728	161049728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtctccagctcacccgCggggcaccggcctgcagggg	5	5	16	15	3	2	1	1	1	1	0	3	1	2	1	4	6	2	3	4	6	0	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:161049728C>T	uc001fxo.2	-	1	390	c.91G>A	c.(91-93)Gcg>Acg	p.A31T		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	31					adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AGCTCACCCGCGGGGCACCGG	0.627													T	161049728	C	T	161049728	3	4	79	1	0	0	0	0	1	0	0	0	12930	768	27	1	1473	1	PVRL4	1	161049728	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	1887346	161049728	88200893	8	5173											
XCL1	6375	broad.mit.edu	37	chr1	168550427	168550427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaacaggaacccagcaatCgaccaatacagctgtgactc	14	5	8	14	1	0	1	0	1	0	0	2	3	0	2	3	1	5	2	3	1	5	1	rs141027416		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:168550427C>T	uc001gfo.2	+	2	479	c.314C>T	c.(313-315)tCg>tTg	p.S105L		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	105					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					ACCCAGCAATCGACCAATACA	0.522													T	168550427	C	T	168550427	3	4	79	1	0	0	0	0	1	0	0	0	17525	893	31	1	324	1	XCL1	1	168550427	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	7500699	168550427	80700194	9	5174											
SELE	6401	broad.mit.edu	37	chr1	169697312	169697312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacagctggacccataaCggaaactgccagaagcacta	15	5	8	13	1	1	1	1	0	0	1	1	3	1	3	2	2	5	2	2	2	4	2	rs139137736		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:169697312C>T	uc001ggm.4	-	7	1323	c.1166G>A	c.(1165-1167)cGt>cAt	p.R389H	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	389	Sushi 4.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GGACCCATAACGGAAACTGCC	0.522													T	169697312	C	T	169697312	3	4	79	1	0	0	0	0	1	0	0	0	14106	536	19	1	690	1	SELE	1	169697312	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	1146885	169697312	79553309	10	5175											
OR2M3	127062	broad.mit.edu	37	chr1	248367150	248367150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgttcatgtacataCggcccacatctgatcgctcc	8	12	7	14	2	2	1	1	1	1	0	4	1	3	1	2	1	3	4	2	1	2	4	rs147728074	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr1:248367150C>T	uc010pzg.2	+	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.502													T	248367150	C	T	248367150	3	4	79	1	0	0	0	0	1	0	0	0	11087	527	19	1	783	1	OR2M3	1	248367150	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	78669838	248367150	883471	11	5176											
ADD2	119	broad.mit.edu	37	chr2	70901894	70901894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggctgaaggggttgggcaCcgtctcctctgaatcgtctt	5	13	13	10	2	3	2	0	2	3	0	5	2	3	2	2	4	0	3	2	4	2	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:70901894C>T	uc021vjc.1	-	13	1922	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_Missense_Mutation_p.V553M|ADD2_uc002sgz.3_Missense_Mutation_p.V553M|ADD2_uc010fdt.2_Missense_Mutation_p.V553M	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	553					actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GGGTTGGGCACCGTCTCCTCT	0.507													T	70901894	C	T	70901894	3	4	79	1	0	0	0	0	1	0	0	0	305	507	18	2	625	2	ADD2	2	70901894	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		70901894	172297479	12	5177											
TTN	7273	broad.mit.edu	37	chr2	179446906	179446906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctttggttatgttgctaaTaacaggaggatcacagcgtc	11	13	10	7	1	2	0	1	0	1	0	3	2	2	2	0	3	3	3	0	3	3	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr2:179446906T>C	uc021vsy.1	-	263	58711	c.58486A>G	c.(58486-58488)Att>Gtt	p.I19496V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I13191V|TTN_uc021vta.1_Missense_Mutation_p.I13124V|TTN_uc021vtb.1_Missense_Mutation_p.I12999V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20423	Fibronectin type-III 41.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGTTGCTAATAACAGGAGGA	0.418													C	179446906	T	C	179446906	3	2	79	1	0	0	0	0	1	0	0	0	16837	1406	49	3	41981	3	TTN	2	179446906	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	108545012	179446906	63752467	13	5178											
OR5H2	79310	broad.mit.edu	37	chr3	98002586	98002586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactctgtcttttatacaatCataattcctttgctaaatcc	11	17	3	10	0	3	0	1	0	2	0	5	1	5	0	2	0	2	1	2	0	6	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:98002586C>T	uc003dsj.1	+	0	855	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TTTATACAATCATAATTCCTT	0.328													T	98002586	C	T	98002586	2	4	79	1	0	0	0	0	0	0	0	1	11238	816	29	2		2	OR5H2	3	98002586	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		98002586	100019844	14	5179											
HCLS1	3059	broad.mit.edu	37	chr3	121350755	121350755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatggcaacgtccccGccaccagccctcgtccacca	7	5	9	20	3	0	0	0	0	0	0	3	0	2	0	8	2	2	1	8	2	1	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:121350755G>A	uc003eeh.4	-	13	1524	c.1399C>T	c.(1399-1401)Cgg>Tgg	p.R467W	HCLS1_uc011bjj.2_Missense_Mutation_p.R430W	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	467	SH3.				erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CAACGTCCCCGCCACCAGCCC	0.507													A	121350755	G	A	121350755	3	1	79	1	0	0	0	0	1	0	0	0	7050	1086	38	1	65	1	HCLS1	3	121350755	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	23348169	121350755	76671675	15	5180											
ABTB1	80325	broad.mit.edu	37	chr3	127396603	127396603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggagccagcgacctcagggGgccccccagccgtcaccctg	7	3	13	18	2	2	0	2	0	0	0	2	2	2	1	7	3	3	0	7	3	0	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:127396603G>T	uc003ejt.3	+	9	1034	c.946G>T	c.(946-948)Ggc>Tgc	p.G316C	ABTB1_uc003ejr.3_Missense_Mutation_p.G174C|ABTB1_uc003ejs.3_Missense_Mutation_p.G291C|ABTB1_uc003eju.3_Missense_Mutation_p.G174C|ABTB1_uc010hsm.3_Missense_Mutation_p.G43C	NM_172027	NP_742024	Q969K4	ABTB1_HUMAN	Homo sapiens ankyrin repeat and BTB (POZ) domain containing 1 (ABTB1), transcript variant 2, mRNA.	316	BTB 2.					cytoplasm|nucleolus|plasma membrane	translation elongation factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10						GACCTCAGGGGGCCCCCCAGC	0.642													T	127396603	G	T	127396603	3	4	79	1	0	0	0	0	1	0	0	0	102	1232	43	4	984	4	ABTB1	3	127396603	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	6045848	127396603	70625827	16	5181											
EPHB1	2047	broad.mit.edu	37	chr3	134967277	134967277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagccggccccggtttgcGgagattgtcaacaccctaga	10	7	11	13	3	1	2	1	0	0	2	1	3	1	2	4	3	4	1	4	3	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:134967277G>A	uc003eqt.3	+	13	2991	c.2616G>A	c.(2614-2616)gcG>gcA	p.A872A	EPHB1_uc003equ.3_Silent_p.A433A	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	872	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.A872G(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCCGGTTTGCGGAGATTGTCA	0.582													A	134967277	G	A	134967277	2	1	79	1	0	0	0	0	0	0	0	1	5215	1103	39	1		1	EPHB1	3	134967277	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	7570674	134967277	63055153	17	5182											
ZIC4	84107	broad.mit.edu	37	chr3	147108751	147108751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggtacgcgccgccaccGccgccgaggaggccacctgg	5	2	16	18	8	0	0	0	0	0	0	0	2	0	1	7	5	1	1	7	5	1	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr3:147108751G>A	uc011bno.2	-	3	1307	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V	ZIC4_uc021xfc.1_Non-coding_Transcript|ZIC4_uc021xfd.1_Non-coding_Transcript|ZIC4_uc021xfe.1_Non-coding_Transcript|ZIC4_uc003ewc.2_Missense_Mutation_p.A254V|ZIC4_uc021xff.1_Missense_Mutation_p.A362V|ZIC4_uc003ewd.2_Missense_Mutation_p.A324V|ZIC4_uc021xfg.1_Missense_Mutation_p.A118V	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	324						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						CGCCGCCACCGCCGCCGAGGA	0.706													A	147108751	G	A	147108751	3	1	79	1	0	0	0	0	1	0	0	0	17782	1087	38	1	41	1	ZIC4	3	147108751	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	12141474	147108751	50913679	18	5183											
GAK	2580	broad.mit.edu	37	chr4	864620	864620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcctgtccctgggctcCacctccacttccaggttcac	4	10	8	19	1	1	0	1	0	0	0	6	0	5	0	6	3	0	2	6	3	0	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:864620C>T	uc003gbm.4	-	18	2326	c.2127G>A	c.(2125-2127)gtG>gtA	p.V709V	GAK_uc003gbn.4_Silent_p.V630V|GAK_uc010ibk.1_Silent_p.V603V|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Silent_p.V573V	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	709	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CCCTGGGCTCCACCTCCACTT	0.557													T	864620	C	T	864620	2	4	79	1	0	0	0	0	0	0	0	1	6249	581	21	2		2	GAK	4	864620	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		864620	190289656	19	5184											
ATP8A1	10396	broad.mit.edu	37	chr4	42505527	42505527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaacagtttgcaggaGtgtcctgtatccaaacacag	11	12	8	10	0	2	0	1	0	1	0	4	1	4	1	2	1	3	3	2	1	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:42505527G>C	uc003gwr.2	-	23	2323	c.2091C>G	c.(2089-2091)caC>caG	p.H697Q	ATP8A1_uc003gwq.2_5'UTR|ATP8A1_uc003gws.2_Missense_Mutation_p.H682Q	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	697					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	GTTTGCAGGAGTGTCCTGTAT	0.274													C	42505527	G	C	42505527	3	2	79	1	0	0	0	0	1	0	0	0	1197	1020	36	4	1459	4	ATP8A1	4	42505527	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	41640907	42505527	148648749	20	5185											
SLC4A4	8671	broad.mit.edu	37	chr4	72316924	72316924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagaatatgtactcaggtGgagagaatgttcagatgaat	16	10	12	3	0	2	4	2	1	0	3	2	7	2	5	0	2	1	2	0	2	6	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:72316924G>A	uc010iic.3	+	10	1345	c.1228G>A	c.(1228-1230)Gga>Aga	p.G410R	SLC4A4_uc003hfy.3_Missense_Mutation_p.G410R|SLC4A4_uc010iib.3_Missense_Mutation_p.G410R|SLC4A4_uc003hfz.3_Missense_Mutation_p.G410R|SLC4A4_uc003hgc.4_Missense_Mutation_p.G366R|SLC4A4_uc010iid.3_5'UTR|SLC4A4_uc003hga.2_Missense_Mutation_p.G288R|SLC4A4_uc003hgb.3_Missense_Mutation_p.G366R	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	410						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GTACTCAGGTGGAGAGAATGT	0.443													A	72316924	G	A	72316924	3	1	79	1	0	0	0	0	1	0	0	0	14750	1349	47	2	1387	2	SLC4A4	4	72316924	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	29811397	72316924	118837352	21	5186											
PPEF2	5470	broad.mit.edu	37	chr4	76797562	76797562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcttgctgccggcaccGctctagctccagttccacgg	4	9	11	17	3	1	0	0	0	1	0	3	0	3	0	5	2	4	6	5	2	1	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:76797562G>A	uc003hix.3	-	10	1555	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.R400W	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	400	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TGCCGGCACCGCTCTAGCTCC	0.667													A	76797562	G	A	76797562	3	1	79	1	0	0	0	0	1	0	0	0	12385	1086	38	1	1091	1	PPEF2	4	76797562	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	4480638	76797562	114356714	22	5187											
SHROOM3	57619	broad.mit.edu	37	chr4	77661370	77661370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagcctggagctaggcCggggaacccaggagggttac	10	4	16	11	1	0	0	0	0	0	0	0	3	0	3	3	6	5	3	3	6	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:77661370C>T	uc011cbx.2	+	4	2997	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R506W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R557W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R460W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	682					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGAGCTAGGCCGGGGAACCCA	0.607													T	77661370	C	T	77661370	3	4	79	1	0	0	0	0	1	0	0	0	14389	643	23	1	2062	1	SHROOM3	4	77661370	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	863808	77661370	113492906	23	5188											
FAM190A	401145	broad.mit.edu	37	chr4	91321221	91321221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggatcttgtgaactggAtgaagatgatctaatgcttg	10	15	12	4	0	2	4	0	3	2	1	2	6	2	6	0	2	2	1	0	2	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr4:91321221A>G	uc003hsv.4	+	3	1884	c.1544A>G	c.(1543-1545)gAt>gGt	p.D515G	FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.D515G	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	515										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						TGTGAACTGGATGAAGATGAT	0.333													G	91321221	A	G	91321221	3	3	79	1	0	0	0	0	1	0	0	0	5568	333	12	3	1554	3	FAM190A	4	91321221	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	13659851	91321221	99833055	24	5189											
CTNND2	1501	broad.mit.edu	37	chr5	11565132	11565132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctacgatctgccgttcagCctccagctctcgggtcagcc	5	9	11	16	3	4	0	2	0	2	0	6	1	5	0	4	2	5	3	4	2	1	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:11565132C>T	uc003jfa.1	-	2	356	c.211G>A	c.(211-213)Gct>Act	p.A71T	CTNND2_uc010itt.2_5'UTR|CTNND2_uc011cmy.1_5'UTR|CTNND2_uc011cmz.1_5'UTR|CTNND2_uc010itu.1_Non-coding_Transcript	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	71					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TGCCGTTCAGCCTCCAGCTCT	0.502													T	11565132	C	T	11565132	3	4	79	1	0	0	0	0	1	0	0	0	4053	739	26	2	3546	2	CTNND2	5	11565132	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		11565132	169350128	25	5190											
PIK3R1	5295	broad.mit.edu	37	chr5	67591125	67591125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaccagaccttatccagcTgagaaagacgagagaccaat	17	6	8	10	1	0	4	0	1	0	4	1	7	1	4	4	0	2	1	4	0	5	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:67591125T>C	uc003jva.3	+	12	2298	c.1718T>C	c.(1717-1719)cTg>cCg	p.L573P	PIK3R1_uc003jvc.3_Missense_Mutation_p.L273P|PIK3R1_uc003jvd.3_Missense_Mutation_p.L303P|PIK3R1_uc003jve.3_Missense_Mutation_p.L252P|PIK3R1_uc021xzn.1_Missense_Mutation_p.L210P|PIK3R1_uc011crb.2_Missense_Mutation_p.L243P	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	573					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L573P(4)|p.L570_D578del(2)|p.L303P(2)|p.L273P(2)|p.0?(1)|p.?(1)|p.L570_Q572del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTTATCCAGCTGAGAAAGACG	0.383			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67591125	T	C	67591125	3	2	79	1	0	0	0	0	1	0	0	0	11995	1580	55	3	1894	3	PIK3R1	5	67591125	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	56025993	67591125	113324135	26	5191											
PRR16	51334	broad.mit.edu	37	chr5	120021968	120021968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgaaatggaggcttacCaggtggacctaacaaaattc	14	9	9	9	1	1	0	0	0	1	0	2	3	1	2	2	4	3	1	2	4	6	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:120021968C>A	uc003ksq.3	+	1	642	c.479C>A	c.(478-480)cCa>cAa	p.P160Q	PRR16_uc003ksp.3_Missense_Mutation_p.P137Q|PRR16_uc003ksr.3_Missense_Mutation_p.P90Q	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	160	Pro-rich.							p.P137Q(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GGAGGCTTACCAGGTGGACCT	0.468													A	120021968	C	A	120021968	3	1	79	1	0	0	0	0	1	0	0	0	12675	594	21	4	416	4	PRR16	5	120021968	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	52430843	120021968	60893292	27	5192											
SGCD	6444	broad.mit.edu	37	chr5	156186311	156186311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacgaggcagaaggtcttCgagatctgcgtctgcgccaa	10	7	14	10	4	3	2	0	0	3	2	4	5	3	3	1	3	3	1	1	3	3	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:156186311C>T	uc003lwc.4	+	8	1302	c.783C>T	c.(781-783)ttC>ttT	p.F261F	SGCD_uc003lwd.4_Silent_p.F260F	NM_000337	NP_001121681	Q92629	SGCD_HUMAN	Homo sapiens sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) (SGCD), transcript variant 1, mRNA.	260			E -> K (in LGMD2F).		cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma		p.F261L(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGAAGGTCTTCGAGATCTGCG	0.488													T	156186311	C	T	156186311	2	4	79	1	0	0	0	0	0	0	0	1	14294	883	31	1		1	SGCD	5	156186311	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	36164343	156186311	24728949	28	5193											
ADAMTS2	9509	broad.mit.edu	37	chr5	178552111	178552111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtagcggctgaatgcagcGcacggagcgcacctgcatgc	8	6	15	12	4	0	1	0	1	0	0	0	2	0	2	1	2	6	6	1	2	2	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr5:178552111G>A	uc003mjw.3	-	18	2923	c.2821C>T	c.(2821-2823)Cgc>Tgc	p.R941C		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	941	TSP type-1 3.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R941H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGAATGCAGCGCACGGAGCGC	0.692													A	178552111	G	A	178552111	3	1	79	1	0	0	0	0	1	0	0	0	265	1087	38	1	830	1	ADAMTS2	5	178552111	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	22365800	178552111	2363149	29	5194											
GMDS	2762	broad.mit.edu	37	chr6	1930436	1930436	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatcttagctactgaccgGctaatttttcgagtaacgaa	13	13	7	8	3	1	1	0	1	1	0	2	3	1	1	1	1	3	3	1	1	7	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:1930436G>A	uc003mtq.3	-	6	884	c.672C>T	c.(670-672)agC>agT	p.S224S	GMDS_uc021ykn.1_Silent_p.S194S	NM_001500	NP_001491	O60547	GMDS_HUMAN	Homo sapiens GDP-mannose 4,6-dehydratase (GMDS), transcript variant 1, mRNA.	224					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		CTACTGACCGGCTAATTTTTC	0.428													A	1930436	G	A	1930436	2	1	79	1	0	0	0	0	0	0	0	1	6542	1194	42	2		2	GMDS	6	1930436	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		1930436	169184631	30	5195											
PPP1R10	5514	broad.mit.edu	37	chr6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgggggcgatgcccaCttcccatgccaccgccaggg	6	7	12	16	2	1	0	1	0	0	0	2	1	2	0	5	3	2	0	5	3	0	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:30570090C>T	uc003nqn.1	-	18	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N	PPP1R10_uc010jsc.1_Missense_Mutation_p.S433N	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	779	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672													T	30570090	C	T	30570090	3	4	79	1	0	0	0	0	1	0	0	0	12434	565	20	2	494	2	PPP1R10	6	30570090	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	28639654	30570090	140544977	31	5196											
ATG5	9474	broad.mit.edu	37	chr6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtccaaaccacacatctcGaagcacatctttgtcatctg	11	11	5	14	2	4	0	1	0	3	0	7	1	5	0	2	0	2	1	2	0	2	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:106764059G>A	uc003prf.3	-	1	378	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_uc010kdb.3_Nonsense_Mutation_p.R9*|ATG5_uc003prg.3_5'UTR|ATG5_uc010kdc.3_Nonsense_Mutation_p.R9*	NM_004849	NP_004840	Q9H1Y0	ATG5_HUMAN	Homo sapiens ATG5 autophagy related 5 homolog (S. cerevisiae) (ATG5), mRNA.	9					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368													A	106764059	G	A	106764059	4	1	79	1	0	0	0	0	0	1	0	0	1105	1066	37	1	830	1	ATG5	6	106764059	Nonsense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	76193969	106764059	64351008	32	5197											
TXLNB	167838	broad.mit.edu	37	chr6	139564240	139564240	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcggtttggacactattaAcctcctctgcgtcaatctct	7	13	8	13	3	3	0	1	0	2	0	5	1	4	1	2	3	2	1	2	3	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr6:139564240A>T	uc021zfy.1	-	9	1643	c.1478T>A	c.(1477-1479)gTt>gAt	p.V493D		NM_153235	NP_694967	Q8N3L3	TXLNB_HUMAN	Homo sapiens taxilin beta (TXLNB), mRNA.	493						cytoplasm				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		GACACTATTAACCTCCTCTGC	0.478													T	139564240	A	T	139564240	3	4	79	1	0	0	0	0	1	0	0	0	16890	43	2	5	580	5	TXLNB	6	139564240	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	32800181	139564240	31550827	33	5198											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066565	18066565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttggagcaatgcttcaTcttctcatcttgaggtatgg	8	17	9	7	0	4	1	2	1	3	0	5	2	4	2	0	3	2	3	0	3	3	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:18066565T>C	uc003stz.3	-	0	922	c.841A>G	c.(841-843)Atg>Gtg	p.M281V		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	281					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					CAATGCTTCATCTTCTCATCT	0.438													C	18066565	T	C	18066565	3	2	79	1	0	0	0	0	1	0	0	0	12665	1435	50	3	119	3	PRPS1L1	7	18066565	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08		18066565	141072098	34	5199											
PKD1L1	168507	broad.mit.edu	37	chr7	47867036	47867036	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatgcgcccagcgcaGgtggcgagcttgttgtcggg	4	9	19	9	4	0	0	0	0	0	0	1	2	0	1	1	5	3	3	1	5	0	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:47867036G>C	uc003tny.2	-	44	6800	c.6766C>G	c.(6766-6768)Ctg>Gtg	p.L2256V	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'UTR	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2256					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GCCCAGCGCAGGTGGCGAGCT	0.667													C	47867036	G	C	47867036	3	2	79	1	0	0	0	0	1	0	0	0	12041	991	35	4	1835	4	PKD1L1	7	47867036	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	29800471	47867036	111271627	35	5200											
CALN1	83698	broad.mit.edu	37	chr7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgaggctcttccggaCgcaggtctgtctgttctgct	5	13	12	11	2	4	1	0	1	4	0	5	2	5	2	1	3	1	5	1	3	1	3	rs144352678	by1000genomes	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:71252855C>T	uc003twb.4	-	6	1082	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	189						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													T	71252855	C	T	71252855	3	4	79	1	0	0	0	0	1	0	0	0	2617	536	19	1	98	1	CALN1	7	71252855	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	23385819	71252855	87885808	36	5201											
ZAN	7455	broad.mit.edu	37	chr7	100336230	100336230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgatggcgacttctctagcCctggtagtgagtagcggcca	7	10	13	11	2	1	2	0	2	1	0	2	3	1	2	2	3	2	2	2	3	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:100336230C>T	uc003uwj.3	+	6	925	c.760C>T	c.(760-762)Cct>Tct	p.P254S	ZAN_uc003uwk.3_Missense_Mutation_p.P254S|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	254	MAM 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CTTCTCTAGCCCTGGTAGTGA	0.577													T	100336230	C	T	100336230	3	4	79	1	0	0	0	0	1	0	0	0	17615	623	22	2	782	2	ZAN	7	100336230	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	29083375	100336230	58802433	37	5202											
OPN1SW	611	broad.mit.edu	37	chr7	128415497	128415497	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcccctgcagtacctgcTacagtgcccaggaagccctc	7	10	8	16	0	0	0	0	0	0	0	2	1	1	1	5	1	6	3	5	1	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:128415497T>A	uc003vnt.4	-	0	348	c.348A>T	c.(346-348)gtA>gtT	p.V116V		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	116					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						CAGTACCTGCTACAGTGCCCA	0.547													A	128415497	T	A	128415497	2	1	79	1	0	0	0	0	0	0	0	1	10956	1509	53	5		5	OPN1SW	7	128415497	Silent	SNP	T	TCGA-06-2562-01A-01D-1494-08	28079267	128415497	30723166	38	5203											
TTC26	79989	broad.mit.edu	37	chr7	138854079	138854079	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcttccagttggtgggAggatcagctagtgaatgtgg	8	12	15	6	0	2	1	1	1	1	0	3	3	3	3	1	4	1	3	1	4	2	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr7:138854079A>G	uc003vus.2	+	11	1164	c.1050A>G	c.(1048-1050)ggA>ggG	p.G350G	TTC26_uc011kqn.1_Silent_p.G350G|TTC26_uc011kqo.1_Silent_p.G319G|TTC26_uc011kqp.1_Silent_p.G245G|TTC26_uc003vut.2_Silent_p.G210G|TTC26_uc011kqq.1_Silent_p.G219G	NM_024926	NP_079202	A0AVF1	TTC26_HUMAN	Homo sapiens tetratricopeptide repeat domain 26 (TTC26), transcript variant 1, mRNA.	350							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGTTGGTGGGAGGATCAGCTA	0.368													G	138854079	A	G	138854079	2	3	79	1	0	0	0	0	0	0	0	1	16796	291	11	3		3	TTC26	7	138854079	Silent	SNP	A	TCGA-06-2562-01A-01D-1494-08	10438582	138854079	20284584	39	5204											
PIP5K1B	8395	broad.mit.edu	37	chr9	71606125	71606125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttgaccgctgagcccaaCactctggaagtgcaggatga	11	8	11	11	1	1	3	0	3	1	0	1	5	1	5	2	2	4	2	2	2	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:71606125C>T	uc004agu.3	+	14	1877	c.1572C>T	c.(1570-1572)aaC>aaT	p.N524N	PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	524						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		CTGAGCCCAACACTCTGGAAG	0.428													T	71606125	C	T	71606125	2	4	79	1	0	0	0	0	0	0	0	1	12017	477	17	2		2	PIP5K1B	9	71606125	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08		71606125	69607306	40	5205											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112694260	112694260	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccaatcctctgttcaCgaacagcagaaccatcacct	12	8	5	16	1	3	1	2	0	1	1	4	2	4	1	5	0	4	2	5	0	3	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:112694260C>T	uc004bei.2	+	5	640	c.448C>T	c.(448-450)Cga>Tga	p.R150*	PALM2-AKAP2_uc004beg.3_Intron|PALM2-AKAP2_uc004beh.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bej.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bek.4_Nonsense_Mutation_p.R150*|PALM2-AKAP2_uc004bel.1_Intron	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTCTGTTCACGAACAGCAGA	0.542													T	112694260	C	T	112694260	4	4	79	1	0	0	0	0	0	1	0	0	11486	528	19	1	470	1	PALM2-AKAP2	9	112694260	Nonsense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	41088135	112694260	28519171	41	5206											
SLC46A2	57864	broad.mit.edu	37	chr9	115652657	115652657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagatctttcggtggtagCggtcgctgagccatcccagc	6	10	14	11	3	1	2	0	1	1	1	4	3	2	2	2	4	3	2	2	4	1	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr9:115652657C>T	uc004bgk.3	-	0	537	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_033051	NP_149040	Q9BY10	TSCOT_HUMAN	Homo sapiens solute carrier family 46, member 2 (SLC46A2), mRNA.	102						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						TCGGTGGTAGCGGTCGCTGAG	0.607													T	115652657	C	T	115652657	3	4	79	1	0	0	0	0	1	0	0	0	14739	768	27	1	1138	1	SLC46A2	9	115652657	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	2958397	115652657	25560774	42	5207											
SLIT1	6585	broad.mit.edu	37	chr10	98808848	98808848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacttgaggttacagtcGcaaatgaaagggttctgcgc	11	9	12	9	2	1	2	0	2	1	0	2	2	1	2	1	2	3	3	1	2	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr10:98808848G>A	uc001kmw.2	-	13	1581	c.1329C>T	c.(1327-1329)tgC>tgT	p.C443C	SLIT1_uc009xvh.1_Silent_p.C453C	NM_003061	NP_003052	O75093	SLIT1_HUMAN	Homo sapiens slit homolog 1 (Drosophila) (SLIT1), mRNA.	443	LRRCT 2.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGTTACAGTCGCAAATGAAAG	0.617													A	98808848	G	A	98808848	2	1	79	1	0	0	0	0	0	0	0	1	14833	1079	38	1		1	SLIT1	10	98808848	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08		98808848	36725899	43	5208											
RBMXL2	27288	broad.mit.edu	37	chr11	7111073	7111073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggagagtacacccaccGcgattacggccactccagtg	9	5	11	16	4	0	1	0	0	0	1	1	3	1	1	5	2	2	1	5	2	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:7111073G>A	uc001mfc.2	+	0	909	c.722G>A	c.(721-723)cGc>cAc	p.R241H		NM_014469	NP_055284	O75526	HNRGT_HUMAN	Homo sapiens RNA binding motif protein, X-linked-like 2 (RBMXL2), mRNA.	241	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TACACCCACCGCGATTACGGC	0.662													A	7111073	G	A	7111073	3	1	79	1	0	0	0	0	1	0	0	0	13242	1087	38	1	724	1	RBMXL2	11	7111073	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08		7111073	127895443	44	5209											
ABCC8	6833	broad.mit.edu	37	chr11	17419338	17419338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccacacatgcaccgaTgtactcctggggagggagag	11	5	14	11	1	0	1	0	0	0	1	1	5	1	2	3	3	3	3	3	3	1	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:17419338T>C	uc001mnc.3	-	30	3886	c.3760A>G	c.(3760-3762)Atc>Gtc	p.I1254V		NM_000352	NP_000343	Q09428	ABCC8_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 8 (ABCC8), mRNA.	1254	ABC transmembrane type-1 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CATGCACCGATGTACTCCTGG	0.632													C	17419338	T	C	17419338	3	2	79	1	0	0	0	0	1	0	0	0	58	1464	51	3	1021	3	ABCC8	11	17419338	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	10308265	17419338	117587178	45	5210											
MS4A14	84689	broad.mit.edu	37	chr11	60183620	60183620	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagacacaccatcccaCgccatgccacctcaagacat	13	6	4	18	1	2	2	2	0	1	2	4	2	3	2	5	0	1	0	5	0	2	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:60183620C>T	uc001npj.3	+	4	1744	c.1179C>T	c.(1177-1179)caC>caT	p.H393H	MS4A14_uc001npi.3_Silent_p.H281H|MS4A14_uc001npn.3_Silent_p.H131H|MS4A14_uc001npk.3_Silent_p.H376H|MS4A14_uc001npl.3_Silent_p.H131H|MS4A14_uc001npm.3_Silent_p.H131H	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	393						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						caccatcccacgccatgccac	0.448													T	60183620	C	T	60183620	2	4	79	1	0	0	0	0	0	0	0	1	9934	535	19	1		1	MS4A14	11	60183620	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	42764282	60183620	74822896	46	5211											
LRP5	4041	broad.mit.edu	37	chr11	68177525	68177525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacagaatcgaagtggcGcggctggacgggcagttccg	10	5	15	11	5	0	1	0	0	0	1	2	3	1	2	2	4	1	3	2	4	3	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:68177525G>A	uc001ont.3	+	9	2310	c.2235G>A	c.(2233-2235)gcG>gcA	p.A745A	LRP5_uc009ysg.3_Silent_p.A155A	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	745	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCGAAGTGGCGCGGCTGGACG	0.617													A	68177525	G	A	68177525	2	1	79	1	0	0	0	0	0	0	0	1	9030	1074	38	1		1	LRP5	11	68177525	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	7993905	68177525	66828991	47	5212											
CBL	867	broad.mit.edu	37	chr11	119148932	119148932	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaactatgtaaaatatgTgctgaaaatgataaggatgt	16	13	8	4	0	0	2	0	2	0	0	1	3	1	3	1	1	2	2	1	1	8	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr11:119148932T>G	uc001pwe.3	+	7	1290	c.1152T>G	c.(1150-1152)tgT>tgG	p.C384W		NM_005188	NP_005179	P22681	CBL_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence (CBL), mRNA.	384	Asp/Glu-rich (acidic).				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.E366_Q409del(26)|p.C384R(8)|p.C384Y(5)|p.E366_K477del(2)|p.E369_D390del(2)|p.E369_Q409del(2)|p.?(1)|p.K322_D460del(1)		breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		GTAAAATATGTGCTGAAAATG	0.353			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				G	119148932	T	G	119148932	3	3	79	1	0	0	0	0	1	0	0	0	2726	1702	59	5	1182	5	CBL	11	119148932	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	50971407	119148932	15857584	48	5213											
APOF	319	broad.mit.edu	37	chr12	56755294	56755294	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccataggcccccctgaCatcccagccatggtcatcag	10	6	8	17	0	2	2	2	1	0	1	3	2	3	2	6	2	1	0	6	2	1	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:56755294C>A	uc001sle.1	-	1	750	c.696G>T	c.(694-696)atG>atT	p.M232I		NM_001638	NP_001629	Q13790	APOF_HUMAN	Homo sapiens apolipoprotein F (APOF), mRNA.	232					cholesterol metabolic process	high-density lipoprotein particle|low-density lipoprotein particle	cholesterol binding|lipid transporter activity|receptor binding			breast(1)|lung(3)|prostate(1)|stomach(1)	6						GCCCCCCTGACATCCCAGCCA	0.517													A	56755294	C	A	56755294	3	1	79	1	0	0	0	0	1	0	0	0	806	478	17	4	288	4	APOF	12	56755294	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		56755294	77096601	49	5214											
CAPS2	84698	broad.mit.edu	37	chr12	75678781	75678781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtattcattcatttcaccaAtaataccacgtttgaattct	12	17	3	9	1	4	1	3	1	1	0	4	1	4	1	2	0	1	2	2	0	5	8			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:75678781A>G	uc001sxl.3	-	14	1504	c.1475T>C	c.(1474-1476)aTt>aCt	p.I492T	CAPS2_uc001sxm.3_Missense_Mutation_p.I279T|CAPS2_uc009zsa.2_Missense_Mutation_p.I101T|CAPS2_uc001sxi.4_Missense_Mutation_p.I247T|CAPS2_uc001sxj.4_Missense_Mutation_p.I422T|CAPS2_uc001sxk.4_Missense_Mutation_p.I511T	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	511	EF-hand 2.						calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CATTTCACCAATAATACCACG	0.313													G	75678781	A	G	75678781	3	3	79	1	0	0	0	0	1	0	0	0	2664	101	4	3	153	3	CAPS2	12	75678781	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	18923487	75678781	58173114	50	5215											
TDG	6996	broad.mit.edu	37	chr12	104378553	104378553	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttatgccatcatccagTgcaagatgtgctcagtttcc	9	14	8	10	0	2	1	2	0	0	1	4	1	4	1	3	0	3	4	3	0	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:104378553T>A	uc001tkg.3	+	7	1042	c.819T>A	c.(817-819)agT>agA	p.S273R	TDG_uc009zuk.3_Missense_Mutation_p.S269R|TDG_uc010swi.2_Missense_Mutation_p.S130R|TDG_uc010swj.2_Missense_Mutation_p.S61R	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	273					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity	p.S273I(1)		large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		CATCATCCAGTGCAAGATGTG	0.338								Base excision repair (BER), DNA glycosylases					A	104378553	T	A	104378553	3	1	79	1	0	0	0	0	1	0	0	0	15825	1693	59	5	849	5	TDG	12	104378553	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	28699772	104378553	29473342	51	5216											
TMEM132D	121256	broad.mit.edu	37	chr12	129558525	129558525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcctcgctactcatcacGatggagttcctggtggggta	7	12	11	11	2	3	0	3	0	0	0	6	2	5	1	2	4	1	3	2	4	2	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr12:129558525G>A	uc009zyl.1	-	8	3523	c.3195C>T	c.(3193-3195)atC>atT	p.I1065I	TMEM132D_uc001uia.2_Silent_p.I603I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1065						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TACTCATCACGATGGAGTTCC	0.517													A	129558525	G	A	129558525	2	1	79	1	0	0	0	0	0	0	0	1	16147	1048	37	1		1	TMEM132D	12	129558525	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	25179972	129558525	4293370	52	5217											
EFNB2	1948	broad.mit.edu	37	chr13	107187195	107187195	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggacgccacttacttggAgttcgaggaattccaataga	11	9	11	10	4	0	1	0	0	0	1	2	5	1	4	2	3	1	1	2	3	4	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:107187195A>C	uc001vqi.3	-	0	194	c.118T>G	c.(118-120)Tcc>Gcc	p.S40A		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	40					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					ACTTACTTGGAGTTCGAGGAA	0.597													C	107187195	A	C	107187195	3	2	79	1	0	0	0	0	1	0	0	0	4995	304	11	5	903	5	EFNB2	13	107187195	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		107187195	7982683	53	5218											
COL4A2	1284	broad.mit.edu	37	chr13	111134945	111134945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttccagggagcaaaggCgaggctggatttttcggaat	9	10	16	6	2	0	0	0	0	0	0	2	4	1	3	1	6	1	3	1	6	2	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr13:111134945C>T	uc001vqx.3	+	31	3130	c.2841C>T	c.(2839-2841)ggC>ggT	p.G947G		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	947	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGAGCAAAGGCGAGGCTGGAT	0.527													T	111134945	C	T	111134945	2	4	79	1	0	0	0	0	0	0	0	1	3721	755	27	1		1	COL4A2	13	111134945	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	3947750	111134945	4034933	54	5219											
KLHL28	54813	broad.mit.edu	37	chr14	45415013	45415013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattttaacatcacctactCgaagaatgatgtcacagagt	15	11	7	8	1	2	3	2	1	0	2	3	5	2	3	1	0	2	0	1	0	5	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:45415013C>A	uc001wvq.3	-	1	365	c.119G>T	c.(118-120)cGa>cTa	p.R40L	KLHL28_uc001wvr.3_Missense_Mutation_p.R40L|KLHL28_uc001wvt.4_Missense_Mutation_p.R40L	NM_017658	NP_060128	Q9NXS3	KLH28_HUMAN	Homo sapiens kelch-like 28 (Drosophila) (KLHL28), mRNA.	40	BTB.									breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATCACCTACTCGAAGAATGAT	0.428													A	45415013	C	A	45415013	3	1	79	1	0	0	0	0	1	0	0	0	8440	884	31	4	1612	4	KLHL28	14	45415013	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		45415013	61934527	55	5220											
DLGAP5	9787	broad.mit.edu	37	chr14	55650334	55650334	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taaaagaaaacaaggcatatCaggtctataacgacccactt	18	8	6	9	1	2	1	1	0	1	1	2	2	2	1	1	2	2	1	1	2	8	5			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:55650334C>G	uc001xbs.3	-	2	593	c.376G>C	c.(376-378)Gat>Cat	p.D126H	DLGAP5_uc001xbt.3_Missense_Mutation_p.D126H	NM_014750	NP_055565	Q15398	DLGP5_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 5 (DLGAP5), transcript variant 1, mRNA.	126					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						CAAGGCATATCAGGTCTATAA	0.323													G	55650334	C	G	55650334	3	3	79	1	0	0	0	0	1	0	0	0	4602	826	29	4	2327	4	DLGAP5	14	55650334	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	10235321	55650334	51699206	56	5221											
KCNK10	54207	broad.mit.edu	37	chr14	88654322	88654322	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctacctcttcttttgTctttttggacagaacccgta	6	16	8	11	1	3	1	0	0	3	1	4	2	4	2	3	2	2	1	3	2	3	7			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr14:88654322T>C	uc001xwm.3	-	5	1122	c.1000A>G	c.(1000-1002)Aca>Gca	p.T334A	KCNK10_uc001xwn.3_Missense_Mutation_p.T334A|KCNK10_uc001xwo.3_Missense_Mutation_p.T329A	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	329					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTTCTTTTGTCTTTTTGGAC	0.493													C	88654322	T	C	88654322	3	2	79	1	0	0	0	0	1	0	0	0	8117	1667	58	3	639	3	KCNK10	14	88654322	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	33003988	88654322	18695218	57	5222											
C15orf52	388115	broad.mit.edu	37	chr15	40629935	40629935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccacccacgtggacttggCcttgtccaggtcccacgggc	6	7	12	16	2	0	0	0	0	0	0	2	1	2	1	5	4	1	0	5	4	0	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:40629935C>T	uc001zlh.4	-	5	821	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	C15orf52_uc001zli.1_Missense_Mutation_p.A201T|C15orf52_uc010ucn.2_Missense_Mutation_p.A59T	NM_207380	NP_997263	Q6ZUT6	CO052_HUMAN	Homo sapiens chromosome 15 open reading frame 52 (C15orf52), mRNA.	269										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		GTGGACTTGGCCTTGTCCAGG	0.701													T	40629935	C	T	40629935	3	4	79	1	0	0	0	0	1	0	0	0	1813	739	26	2	823	2	C15orf52	15	40629935	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		40629935	61901457	58	5223											
CYP11A1	1583	broad.mit.edu	37	chr15	74636252	74636252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggaacatctggtagatgGcatcaatgaatcgctgggcc	10	10	13	8	1	2	2	1	1	1	1	3	3	2	3	1	4	1	3	1	4	4	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:74636252G>A	uc002axt.2	-	3	862	c.707C>T	c.(706-708)gCc>gTc	p.A236V	CYP11A1_uc002axs.2_Missense_Mutation_p.A78V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A78V|CYP11A1_uc010bjn.1_Intron|CYP11A1_uc010bjp.1_Non-coding_Transcript|CYP11A1_uc010ulj.1_Missense_Mutation_p.A16V	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	236					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CTGGTAGATGGCATCAATGAA	0.572													A	74636252	G	A	74636252	3	1	79	1	0	0	0	0	1	0	0	0	4177	1203	42	2	882	2	CYP11A1	15	74636252	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	34006317	74636252	27895140	59	5224											
HAPLN3	145864	broad.mit.edu	37	chr15	89421300	89421300	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcccacagttaggatgCgggtgaaccacagggtagcg	9	5	18	9	2	0	1	0	1	0	0	0	2	0	2	2	5	3	2	2	5	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr15:89421300C>T	uc002bnd.3	-	5	1251	c.1170G>A	c.(1168-1170)ccG>ccA	p.P390P	HAPLN3_uc002bnc.3_Silent_p.P328P|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	328					cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					AGTTAGGATGCGGGTGAACCA	0.642													T	89421300	C	T	89421300	2	4	79	1	0	0	0	0	0	0	0	1	7011	755	27	1		1	HAPLN3	15	89421300	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	14785048	89421300	13110092	60	5225											
CASKIN1	57524	broad.mit.edu	37	chr16	2231462	2231462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccggtgtgggctcaggcGggggcggcgactcgatggcc	3	5	21	12	6	1	0	1	0	0	0	2	2	1	0	2	8	0	1	2	8	0	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:2231462G>A	uc010bsg.1	-	17	1939	c.1907C>T	c.(1906-1908)cCg>cTg	p.P636L		NM_020764	NP_065815	Q8WXD9	CSKI1_HUMAN	Homo sapiens CASK interacting protein 1 (CASKIN1), mRNA.	636					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGGCTCAGGCGGGGGCGGCGA	0.657													A	2231462	G	A	2231462	3	1	79	1	0	0	0	0	1	0	0	0	2692	1116	39	1	2400	1	CASKIN1	16	2231462	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08		2231462	88123291	61	5226											
DNAH3	55567	broad.mit.edu	37	chr16	21080807	21080807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcttctggcatctgggCtatgatgtcctctgaactga	6	13	9	13	0	4	3	0	3	4	0	5	3	5	3	3	2	1	2	3	2	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:21080807C>T	uc010vbe.2	-	22	3310	c.3310G>A	c.(3310-3312)Gcc>Acc	p.A1104T		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1104	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGCATCTGGGCTATGATGTCC	0.428													T	21080807	C	T	21080807	3	4	79	1	0	0	0	0	1	0	0	0	4642	797	28	2	9199	2	DNAH3	16	21080807	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	18849345	21080807	69273946	62	5227											
ITGAX	3687	broad.mit.edu	37	chr16	31382999	31382999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctcgaccctggccGcctgagtccccgtgccacct	3	7	10	21	3	0	1	0	1	0	0	2	2	1	1	9	2	1	0	9	2	0	0	rs146647978	byFrequency	TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:31382999G>A	uc002ebt.3	+	16	2121	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H	ITGAX_uc002ebu.1_Missense_Mutation_p.R685H	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	685					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R685H(4)|p.R685C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GACCCTGGCCGCCTGAGTCCC	0.607													A	31382999	G	A	31382999	3	1	79	1	0	0	0	0	1	0	0	0	7947	1087	38	1	2120	1	ITGAX	16	31382999	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	10302192	31382999	58971754	63	5228											
PDP2	57546	broad.mit.edu	37	chr16	66918530	66918530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtttgagagcaaccagctgGctgccaattccccagtggag	9	8	13	11	0	0	1	0	1	0	1	1	3	1	2	4	3	4	4	4	3	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr16:66918530G>A	uc021tjw.1	+	0	343	c.343G>A	c.(343-345)Gct>Act	p.A115T	PDP2_uc002eqk.2_Missense_Mutation_p.A115T	NM_020786	NP_065837	Q9P2J9	PDP2_HUMAN	Homo sapiens pyruvate dehyrogenase phosphatase catalytic subunit 2 (PDP2), mRNA.	115					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CAACCAGCTGGCTGCCAATTC	0.522													A	66918530	G	A	66918530	3	1	79	1	0	0	0	0	1	0	0	0	11762	1203	42	2	345	2	PDP2	16	66918530	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	35535531	66918530	23436223	64	5229											
NF1	4763	broad.mit.edu	37	chr17	29541476	29541476	+	Frame_Shift_Del	DEL	C	C	-																															gttttgtttttagagtcttaCatttaaagaaaaagtaacaa																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29541476delC	uc002hgg.3	+	12	1783	c.1400delC	c.(1399-1401)acafs	p.T467fs	NF1_uc002hge.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T467fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T467fs|NF1_uc010csn.2_Frame_Shift_Del_p.T327fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	467					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAGTCTTACATTTAAAGAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29541476	C	-	29541476	7	5	79	1	0	1	0	1	0	0	0	0	10432	478	17	0	1450	0	NF1	17	29541476	Frame_Shift_Del	DEL	C	TCGA-06-2562-01A-01D-1494-08		29541476	51653734	65	5230											
NF1	4763	broad.mit.edu	37	chr17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aatcgctttaaaacagacttTctctctaagtggtttgttgt																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:29652976_29652979delTCTC	uc002hgg.3	+	36	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.F1658fs	NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29652979	TCTC	-	29652976	7	5	79	1	0	1	0	1	0	0	0	0	10432	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-06-2562-01A-01D-1494-08	111500	29652976	51542234	66	5231											
RNF43	54894	broad.mit.edu	37	chr17	56435337	56435337	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggctgctgagttggaTctggtgacttgctgatcagg	7	11	17	6	0	2	3	1	3	1	0	2	5	2	4	0	5	2	4	0	5	1	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:56435337T>G	uc002iwf.3	-	7	3756	c.1800A>C	c.(1798-1800)agA>agC	p.R600S	RNF43_uc010wnv.2_Missense_Mutation_p.R559S|RNF43_uc002iwh.4_Missense_Mutation_p.R600S|RNF43_uc002iwg.4_Missense_Mutation_p.R600S|RNF43_uc010dcw.3_Missense_Mutation_p.R473S	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	600	Pro-rich.			R -> G (in Ref. 1; BAD51435 and 2; BAA91085).		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGAGTTGGATCTGGTGACTT	0.657													G	56435337	T	G	56435337	3	3	79	1	0	0	0	0	1	0	0	0	13586	1432	50	5	559	5	RNF43	17	56435337	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	26782361	56435337	24759873	67	5232											
RGS9	8787	broad.mit.edu	37	chr17	63173876	63173876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggacaatgtgctggactaCggcctggaccgagtgaccaa	11	7	13	10	2	0	1	0	1	0	0	0	5	0	4	3	4	2	1	3	4	3	1	rs61739619		TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr17:63173876C>T	uc002jfe.3	+	8	812	c.609C>T	c.(607-609)taC>taT	p.Y203Y	RGS9_uc021ubw.1_Silent_p.Y203Y|RGS9_uc010dem.3_Silent_p.Y203Y|RGS9_uc002jfd.3_Silent_p.Y203Y	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	203					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						TGCTGGACTACGGCCTGGACC	0.488													T	63173876	C	T	63173876	2	4	79	1	0	0	0	0	0	0	0	1	13402	547	19	1		1	RGS9	17	63173876	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	6738539	63173876	18021334	68	5233											
CDH7	1005	broad.mit.edu	37	chr18	63489429	63489429	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactgtcaggaactacAtcagtcactgtgaccctaac	12	8	10	11	0	3	1	3	1	0	0	3	4	3	4	1	3	3	0	1	3	3	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:63489429A>G	uc002lkb.3	+	4	1164	c.738A>G	c.(736-738)acA>acG	p.T246T	CDH7_uc002ljz.3_Silent_p.T246T|CDH7_uc002lka.3_Silent_p.T246T	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	246	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CAGGAACTACATCAGTCACTG	0.433													G	63489429	A	G	63489429	2	3	79	1	0	0	0	0	0	0	0	1	3145	204	8	3		3	CDH7	18	63489429	Silent	SNP	A	TCGA-06-2562-01A-01D-1494-08		63489429	14587819	69	5234											
ZNF407	55628	broad.mit.edu	37	chr18	72775604	72775604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggagattttaaacctctCggaggctggagtcgctcccc	8	9	12	12	2	1	1	0	0	1	1	4	4	2	3	3	4	1	3	3	4	2	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr18:72775604C>T	uc002llw.2	+	7	5980	c.5927C>T	c.(5926-5928)tCg>tTg	p.S1976L		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1976					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTAAACCTCTCGGAGGCTGGA	0.617													T	72775604	C	T	72775604	3	4	79	1	0	0	0	0	1	0	0	0	17988	893	31	1	6087	1	ZNF407	18	72775604	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08	9286175	72775604	5301644	70	5235											
ZNF77	58492	broad.mit.edu	37	chr19	2933851	2933851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgcgtcctcacgtggAttcgaagggaggaggaaaaa	13	7	14	7	3	1	0	1	0	0	0	3	5	2	4	1	4	1	1	1	4	4	2			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:2933851A>G	uc002lws.4	-	3	1405	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCACGTGGATTCGAAGGGA	0.502													G	2933851	A	G	2933851	3	3	79	1	0	0	0	0	1	0	0	0	18242	333	12	3	367	3	ZNF77	19	2933851	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		2933851	56195132	71	5236											
MAG	4099	broad.mit.edu	37	chr19	35804318	35804318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagctacacgctgacGgaggagctagctgagtatgc	12	6	14	9	2	0	2	0	2	0	0	0	5	0	5	0	3	5	5	0	3	4	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:35804318G>A	uc002nyy.2	+	10	2040	c.1842G>A	c.(1840-1842)acG>acA	p.T614T	MAG_uc002nyx.2_3'UTR|MAG_uc010eds.2_Silent_p.T589T|MAG_uc002nyz.2_Silent_p.T614T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	614				T -> S (in Ref. 2).	blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ACACGCTGACGGAGGAGCTAG	0.657													A	35804318	G	A	35804318	2	1	79	1	0	0	0	0	0	0	0	1	9233	1103	39	1		1	MAG	19	35804318	Silent	SNP	G	TCGA-06-2562-01A-01D-1494-08	32870467	35804318	23324665	72	5237											
IL4I1	259307	broad.mit.edu	37	chr19	50392981	50392981	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagataactggccttggacTggagggtggctgccttcttc	7	11	14	9	0	1	1	0	0	1	1	2	4	1	3	2	5	2	1	2	5	1	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr19:50392981T>G	uc002pqv.2	-	10	2506	c.1677A>C	c.(1675-1677)ccA>ccC	p.P559P	IL4I1_uc002pqt.1_Silent_p.P550P|IL4I1_uc021uxy.1_Silent_p.P572P|IL4I1_uc002pqu.2_Silent_p.P572P|IL4I1_uc010eno.2_Silent_p.P558P	NM_152899	NP_690863	Q96RQ9	OXLA_HUMAN	Homo sapiens interleukin 4 induced 1 (IL4I1), transcript variant 1, mRNA.	550						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GGCCTTGGACTGGAGGGTGGC	0.602													G	50392981	T	G	50392981	2	3	79	1	0	0	0	0	0	0	0	1	7755	1567	55	5		5	IL4I1	19	50392981	Silent	SNP	T	TCGA-06-2562-01A-01D-1494-08	14588663	50392981	8736002	73	5238											
PLCB1	23236	broad.mit.edu	37	chr20	8628555	8628559	+	Frame_Shift_Del	DEL	AACTT	AACTT	-																															cttctccaacagctatactaAacttaagctgcaagtcactc																										TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:8628555_8628559delAACTT	uc002wnb.3	+	5	476_480	c.473_477delAACTT	c.(472-477)aaacttfs	p.K158fs	PLCB1_uc010zrb.1_Frame_Shift_Del_p.K57fs|PLCB1_uc010gbv.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wmz.1_Frame_Shift_Del_p.K158fs|PLCB1_uc002wna.3_Frame_Shift_Del_p.K158fs|PLCB1_uc002wnc.1_Frame_Shift_Del_p.K57fs	NM_015192	NP_056007	Q9NQ66	PLCB1_HUMAN	Homo sapiens phospholipase C, beta 1 (phosphoinositide-specific) (PLCB1), transcript variant 1, mRNA.	158					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AGCTATACTAAACTTAAGCTGCAAG	0.332													-	8628559	AACTT	-	8628555	7	5	79	1	0	1	0	1	0	0	0	0	12104	14	1	0	495	0	PLCB1	20	8628555	Frame_Shift_Del	DEL	AACTT	TCGA-06-2562-01A-01D-1494-08		8628555	54396965	74	5239											
SSTR4	6754	broad.mit.edu	37	chr20	23016341	23016341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatcttcgtgatccttcGctacgccaagatgaagacgg	9	10	11	11	4	2	4	1	2	1	2	5	4	3	4	2	2	1	1	2	2	3	3			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:23016341G>A	uc002wsr.2	+	0	285	c.221G>A	c.(220-222)cGc>cAc	p.R74H		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	74					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGATCCTTCGCTACGCCAAG	0.642													A	23016341	G	A	23016341	3	1	79	1	0	0	0	0	1	0	0	0	15296	1087	38	1	223	1	SSTR4	20	23016341	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	14387786	23016341	40009179	75	5240											
EIF2S2	8894	broad.mit.edu	37	chr20	32677582	32677582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcttgcccgtgacagccTggaagccggttttgatactg	6	11	12	12	3	0	2	0	2	0	0	1	3	0	3	3	2	4	2	3	2	2	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:32677582T>C	uc002xaf.3	-	8	1125	c.956A>G	c.(955-957)cAg>cGg	p.Q319R		NM_003908	NP_003899	P20042	IF2B_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa (EIF2S2), mRNA.	319						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity	p.F318L(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						CGTGACAGCCTGGAAGCCGGT	0.483													C	32677582	T	C	32677582	3	2	79	1	0	0	0	0	1	0	0	0	5049	1580	55	3	49	3	EIF2S2	20	32677582	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	9661241	32677582	30347938	76	5241											
SLC12A5	57468	broad.mit.edu	37	chr20	44673744	44673744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggccccacgcctgctgcagGccatctcgagggatggcatt	6	7	14	14	2	1	0	0	0	1	0	2	2	1	1	4	4	2	3	4	4	0	1			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:44673744G>A	uc010zxl.1	+	11	1679	c.1603G>A	c.(1603-1605)Gcc>Acc	p.A535T	SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Missense_Mutation_p.A512T	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	535					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCTGCTGCAGGCCATCTCGAG	0.632													A	44673744	G	A	44673744	3	1	79	1	0	0	0	0	1	0	0	0	14480	1203	42	2	1705	2	SLC12A5	20	44673744	Missense_Mutation	SNP	G	TCGA-06-2562-01A-01D-1494-08	11996162	44673744	18351776	77	5242											
TUBB1	81027	broad.mit.edu	37	chr20	57599544	57599544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgtcaaggtggctgtctgCgacatcccgccccgggggct	6	7	14	14	4	2	0	1	0	1	0	3	1	3	0	3	4	2	2	3	4	2	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr20:57599544C>T	uc002yak.3	+	3	1331	c.1062C>T	c.(1060-1062)tgC>tgT	p.C354C		NM_030773	NP_110400	Q9H4B7	TBB1_HUMAN	Homo sapiens tubulin, beta 1 class VI (TUBB1), mRNA.	354					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	TGGCTGTCTGCGACATCCCGC	0.567													T	57599544	C	T	57599544	2	4	79	1	0	0	0	0	0	0	0	1	16855	776	27	1		1	TUBB1	20	57599544	Silent	SNP	C	TCGA-06-2562-01A-01D-1494-08	12925800	57599544	5425976	78	5243											
DGCR8	54487	broad.mit.edu	37	chr22	20074008	20074008	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggtgacggggtaggcatAgggggtgagagtgctgataa	9	9	20	3	1	0	3	0	3	0	1	0	4	0	3	0	6	1	4	0	6	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:20074008A>G	uc002zri.3	+	1	951	c.522A>G	c.(520-522)atA>atG	p.I174M	DGCR8_uc010grz.3_Missense_Mutation_p.I174M|DGCR8_uc002zrj.3_5'Flank	NM_022720	NP_073557	Q8WYQ5	DGCR8_HUMAN	Homo sapiens DiGeorge syndrome critical region gene 8 (DGCR8), transcript variant 1, mRNA.	174	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.		I -> V (in dbSNP:rs35987994).		primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					GGGTAGGCATAGGGGGTGAGA	0.552													G	20074008	A	G	20074008	3	3	79	1	0	0	0	0	1	0	0	0	4503	410	15	3	524	3	DGCR8	22	20074008	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08		20074008	31230558	79	5244											
LZTR1	8216	broad.mit.edu	37	chr22	21340179	21340179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgtgaaagactgctccTggtgcaggtgggtggccccg	6	9	16	10	2	0	2	0	1	0	1	2	3	1	2	3	4	2	2	3	4	1	0			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chr22:21340179T>C	uc002zto.3	+	2	416	c.313T>C	c.(313-315)Tgg>Cgg	p.W105R	LZTR1_uc002ztn.3_Missense_Mutation_p.W64R|LZTR1_uc011ahy.2_Intron|LZTR1_uc010gsr.1_5'Flank	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	105					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.W105L(1)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AGACTGCTCCTGGTGCAGGTG	0.582													C	21340179	T	C	21340179	3	2	79	1	0	0	0	0	1	0	0	0	9208	1580	55	3	323	3	LZTR1	22	21340179	Missense_Mutation	SNP	T	TCGA-06-2562-01A-01D-1494-08	1266171	21340179	29964387	80	5245											
EDA	1896	broad.mit.edu	37	chrX	69253319	69253319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttaagctacatcccCgcagcggggagctggaggta	9	8	15	9	2	0	0	0	0	0	0	1	2	1	2	2	5	4	5	2	5	3	4			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:69253319C>T	uc004dxs.3	+	6	1107	c.865C>T	c.(865-867)Cgc>Tgc	p.R289C	EDA_uc011mpj.2_Missense_Mutation_p.R286C|EDA_uc004dxr.3_Missense_Mutation_p.R289C	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	289					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCTACATCCCCGCAGCGGGGA	0.498											OREG0019847	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	69253319	C	T	69253319	3	4	79	1	0	0	0	0	1	0	0	0	4942	652	23	1	1027	1	EDA	23	69253319	Missense_Mutation	SNP	C	TCGA-06-2562-01A-01D-1494-08		69253319	86017241	81	5246											
MCF2	4168	broad.mit.edu	37	chrX	138679647	138679647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttattgcaatctgatgcAtagaatcattaactgacttc	13	15	5	8	0	2	3	1	2	1	1	3	3	2	3	0	0	3	2	0	0	5	6			TCGA-06-2562-01A-01D-1494-08	TCGA-06-2562-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6cb3467e-0ad8-4dd9-8b9b-9103629fd16f	a99131bf-78b4-404b-9146-032998b71c38	g.chrX:138679647A>G	uc011mwn.1	-	20	2468	c.2462T>C	c.(2461-2463)aTg>aCg	p.M821T	MCF2_uc004fav.3_Missense_Mutation_p.M692T|MCF2_uc004fau.3_Missense_Mutation_p.M676T|MCF2_uc010nsh.2_Missense_Mutation_p.M676T|MCF2_uc011mwm.2_Missense_Mutation_p.M637T|MCF2_uc011mwl.2_Missense_Mutation_p.M653T|MCF2_uc011mwo.1_Missense_Mutation_p.M752T|MCF2_uc004faw.2_Missense_Mutation_p.M736T|Mir_548_uc022cfd.1_5'Flank	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.	676					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					AATCTGATGCATAGAATCATT	0.388													G	138679647	A	G	138679647	3	3	79	1	0	0	0	0	1	0	0	0	9453	217	8	3	810	3	MCF2	23	138679647	Missense_Mutation	SNP	A	TCGA-06-2562-01A-01D-1494-08	69426328	138679647	16590913	82	5247											
PLCH2	9651	broad.mit.edu	37	chr1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggctcgccgccagcGcaccagggaccaatatcctt	8	6	10	17	3	0	0	0	0	0	0	2	1	1	1	6	2	2	2	6	2	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:2411404G>A	uc001aji.1	+	2	777	c.503G>A	c.(502-504)cGc>cAc	p.R168H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	168					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687													A	2411404	G	A	2411404	3	1	80	1	0	0	0	0	1	0	0	0	12115	1087	38	1	513	1	PLCH2	1	2411404	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		2411404	246839217	1	5248											
NCDN	23154	broad.mit.edu	37	chr1	36028235	36028235	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccaggagacgctctccgGtgagtctgtagttacagtct	7	11	13	10	2	3	2	0	1	3	1	4	3	3	2	2	3	1	3	2	3	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:36028235G>A	uc001bza.3	+	5	1512	c.1385_splice	c.e5+1	p.R462_splice	NCDN_uc001bzb.3_Splice_Site_p.R462_splice|NCDN_uc001bzc.3_Splice_Site_p.R445_splice	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	462					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				ACGCTCTCCGGTGAGTCTGTA	0.597													A	36028235	G	A	36028235	5	1	80	1	0	0	0	0	0	0	1	0	10290	1275	44	2	1400	2	NCDN	1	36028235	Splice_Site	SNP	G	TCGA-06-2563-01A-01D-1494-08	33616831	36028235	213222386	2	5249											
KIAA0754	643314	broad.mit.edu	37	chr1	39876294	39876294	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgccacccagaaggcgGccaaatgcagaacgcaaaga	14	3	11	13	2	0	3	0	0	0	3	0	3	0	3	4	2	3	2	4	2	4	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:39876294G>A	uc009vvt.1	+	0	1119	c.357G>A	c.(355-357)cgG>cgA	p.R119R	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc021olw.1_Intron	NM_015038	NP_055853	O94854	K0754_HUMAN	Homo sapiens KIAA0754 (KIAA0754), mRNA.	0										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGAAGGCGGCCAAATGCAG	0.478													A	39876294	G	A	39876294	2	1	80	1	0	0	0	0	0	0	0	1	8250	1190	42	2		2	KIAA0754	1	39876294	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	3848059	39876294	209374327	3	5250											
C1orf173	127254	broad.mit.edu	37	chr1	75108729	75108729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttaaacctctggattcgCtccttcctagctaaggtctc	8	13	6	14	1	2	0	0	0	2	0	6	1	4	1	4	2	2	2	4	2	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:75108729C>A	uc001dgg.3	-	3	516	c.297G>T	c.(295-297)gaG>gaT	p.E99D		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	99								p.K98K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TCTGGATTCGCTCCTTCCTAG	0.323													A	75108729	C	A	75108729	3	1	80	1	0	0	0	0	1	0	0	0	2034	796	28	4	4339	4	C1orf173	1	75108729	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	35232435	75108729	174141892	4	5251											
ZZZ3	26009	broad.mit.edu	37	chr1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcaggttctccggaggctgGcatactctcaagacttgtgt	7	13	11	10	1	3	1	2	0	2	1	5	2	3	2	1	4	1	3	1	4	2	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:78098001G>A	uc001dhq.3	-	4	1515	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_uc001dhr.3_Intron|ZZZ3_uc009wbz.1_Missense_Mutation_p.P347S|ZZZ3_uc001dhp.3_Missense_Mutation_p.P347S	NM_015534	NP_056349	Q8IYH5	ZZZ3_HUMAN	Homo sapiens zinc finger, ZZ-type containing 3 (ZZZ3), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P347S(2)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443													A	78098001	G	A	78098001	3	1	80	1	0	0	0	0	1	0	0	0	18353	1203	42	2	1716	2	ZZZ3	1	78098001	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	2989272	78098001	171152620	5	5252											
ANKRD35	148741	broad.mit.edu	37	chr1	145558841	145558841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatctgtgcaggatggaCgtacacccctgatgatcgca	11	9	10	11	2	1	2	0	2	1	0	2	4	1	4	2	2	3	3	2	2	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:145558841C>T	uc001eob.1	+	6	568	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ANKRD35_uc010oyx.1_5'UTR	NM_144698	NP_653299	Q8N283	ANR35_HUMAN	Homo sapiens ankyrin repeat domain 35 (ANKRD35), mRNA.	154								p.R154C(2)|p.G153G(1)		NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(16)|ovary(4)|prostate(3)|skin(2)|urinary_tract(1)	47	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GCAGGATGGACGTACACCCCT	0.557													T	145558841	C	T	145558841	3	4	80	1	0	0	0	0	1	0	0	0	664	536	19	1	486	1	ANKRD35	1	145558841	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	67460840	145558841	103691780	6	5253											
SPRR1A	6698	broad.mit.edu	37	chr1	152957774	152957774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagcagcaggtgaaacAaccttgccagcctccacccc	11	5	8	17	0	1	1	1	1	0	0	2	1	2	1	6	1	7	3	6	1	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:152957774A>T	uc021ozn.1	+	0	68	c.68A>T	c.(67-69)cAa>cTa	p.Q23L	SPRR1A_uc009wnu.2_Missense_Mutation_p.Q23L|SPRR1A_uc001faw.3_Missense_Mutation_p.Q23L	NM_005987	NP_005978	P35321	SPR1A_HUMAN	Homo sapiens small proline-rich protein 1A (SPRR1A), transcript variant 2, mRNA.	23	2 X 12 AA approximate repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(2)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)	7	Lung NSC(65;1.46e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGTGAAACAACCTTGCCAG	0.572													T	152957774	A	T	152957774	3	4	80	1	0	0	0	0	1	0	0	0	15191	130	5	5	70	5	SPRR1A	1	152957774	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	7398933	152957774	96292847	7	5254											
C1orf116	79098	broad.mit.edu	37	chr1	207195575	207195575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcttgtccaagaaggagcCctttcccagagaagtgctgg	10	9	12	10	0	1	2	0	0	1	2	3	5	3	3	3	2	2	1	3	2	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:207195575C>T	uc001hfd.2	-	3	1793	c.1534G>A	c.(1534-1536)Ggc>Agc	p.G512S	C1orf116_uc009xcb.1_Missense_Mutation_p.G266S|C1orf116_uc021pii.1_Missense_Mutation_p.G266S	NM_023938	NP_001077393	Q9BW04	SARG_HUMAN	Homo sapiens chromosome 1 open reading frame 116 (C1orf116), transcript variant 1, mRNA.	512						cytoplasm|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					AAGAAGGAGCCCTTTCCCAGA	0.567													T	207195575	C	T	207195575	3	4	80	1	0	0	0	0	1	0	0	0	2009	623	22	2	275	2	C1orf116	1	207195575	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	54237801	207195575	42055046	8	5255											
HIST3H3	8290	broad.mit.edu	37	chr1	228612678	228612678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaggcatgatggtgacccGtttggcatggatgacacaca	10	10	12	9	1	0	3	0	3	0	0	0	4	0	4	1	4	0	3	1	4	1	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228612678G>A	uc001hsx.1	-	0	349	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	117					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				ATGGTGACCCGTTTGGCATGG	0.627													A	228612678	G	A	228612678	3	1	80	1	0	0	0	0	1	0	0	0	7239	1144	40	1	65	1	HIST3H3	1	228612678	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	21417103	228612678	20637943	9	5256											
HIST3H2A	92815	broad.mit.edu	37	chr1	228645127	228645127	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgggggcggcgggcggcctCacttgcccttggccttgtgg	1	8	18	14	4	1	0	1	0	0	0	1	0	1	0	4	7	1	0	4	7	0	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:228645127C>T	uc001hsy.3	-	0	434	c.392G>A	c.(391-393)tGa>tAa	p.*131*	HIST3H2BB_uc001hsz.3_5'Flank	NM_033445	NP_254280	Q7L7L0	H2A3_HUMAN	Homo sapiens histone cluster 3, H2a (HIST3H2A), mRNA.	0					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|lung(3)|ovary(1)	5		Prostate(94;0.183)				cgggcggccTCACTTGCCCTT	0.627													T	228645127	C	T	228645127	2	4	80	1	0	0	0	0	0	0	0	1	7237	837	29	2		2	HIST3H2A	1	228645127	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	32449	228645127	20605494	10	5257											
OR2C3	81472	broad.mit.edu	37	chr1	247695195	247695195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagaggcaggacaacaaAgacaaagctggccaggtaca	16	2	11	12	0	0	2	0	0	0	2	0	3	0	3	3	4	3	3	3	4	4	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr1:247695195A>G	uc021pmb.1	-	0	619	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Missense_Mutation_p.F207L	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGGACAACAAAGACAAAGCTG	0.532													G	247695195	A	G	247695195	3	3	80	1	0	0	0	0	1	0	0	0	11069	72	3	3	347	3	OR2C3	1	247695195	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	19050068	247695195	1555426	11	5258											
RNF181	51255	broad.mit.edu	37	chr2	85824255	85824255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccttgtgccgctatgAgctgcccactgatgacgaca	7	10	10	14	2	0	3	0	3	0	0	1	4	1	3	3	0	3	2	3	0	1	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:85824255A>G	uc002spv.1	+	3	406	c.356A>G	c.(355-357)gAg>gGg	p.E119G		NM_016494	NP_057578	Q9P0P0	RN181_HUMAN	Homo sapiens ring finger protein 181 (RNF181), mRNA.	119							ligase activity|zinc ion binding			lung(1)|stomach(1)	2						TGCCGCTATGAGCTGCCCACT	0.522													G	85824255	A	G	85824255	3	3	80	1	0	0	0	0	1	0	0	0	13556	304	11	3	370	3	RNF181	2	85824255	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08		85824255	157375118	12	5259											
ANAPC1	64682	broad.mit.edu	37	chr2	112608407	112608407	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggagtactaacgccatcTagtggagtactgggccgagg	9	10	14	8	2	1	0	0	0	1	0	1	3	1	2	2	4	3	2	2	4	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:112608407T>A	uc002thi.3	-	13	1843	c.1596A>T	c.(1594-1596)ctA>ctT	p.L532L		NM_022662	NP_073153	Q9H1A4	APC1_HUMAN	Homo sapiens anaphase promoting complex subunit 1 (ANAPC1), mRNA.	532					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TAACGCCATCTAGTGGAGTAC	0.433													A	112608407	T	A	112608407	2	1	80	1	0	0	0	0	0	0	0	1	598	1509	53	5		5	ANAPC1	2	112608407	Silent	SNP	T	TCGA-06-2563-01A-01D-1494-08	26784152	112608407	130590966	13	5260											
TRIP12	9320	broad.mit.edu	37	chr2	230663714	230663714	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatgtttttggattcAagcttgccaggaaagaagat	11	13	9	8	0	1	2	1	0	0	2	2	4	2	4	3	2	2	2	3	2	3	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663714A>C	uc002vpx.1	-	22	3387	c.3278T>G	c.(3277-3279)tTg>tGg	p.L1093W	TRIP12_uc021vxw.1_Missense_Mutation_p.L1078W|TRIP12_uc002vpy.1_Missense_Mutation_p.L775W|TRIP12_uc002vpw.1_Missense_Mutation_p.L1045W|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1045					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTGGATTCAAGCTTGCCAG	0.448													C	230663714	A	C	230663714	3	2	80	1	0	0	0	0	1	0	0	0	16657	131	5	5	2924	5	TRIP12	2	230663714	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	118055307	230663714	12535659	14	5261			1	16		3	3	50	N	T_A	9.719341e-09
TRIP12	9320	broad.mit.edu	37	chr2	230663734	230663734	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcttgccaggaaagaagaTttaggtgactgagtagtggt	13	10	14	4	0	0	4	0	2	0	2	0	5	0	5	1	3	2	2	1	3	5	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663734T>C	uc002vpx.1	-	22	3367	c.3258A>G	c.(3256-3258)aaA>aaG	p.K1086K	TRIP12_uc021vxw.1_Silent_p.K1071K|TRIP12_uc002vpy.1_Silent_p.K768K|TRIP12_uc002vpw.1_Silent_p.K1038K|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1038					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGAAAGAAGATTTAGGTGACT	0.398													C	230663734	T	C	230663734	2	2	80	1	0	0	0	0	0	0	0	1	16657	1490	52	3		3	TRIP12	2	230663734	Silent	SNP	T	TCGA-06-2563-01A-01D-1494-08	20	230663734	12535639	15	5262			1	16		3	3	50	N	T_A	9.719341e-09
TRIP12	9320	broad.mit.edu	37	chr2	230663763	230663763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagtagtggtggggctttTagctatgaaaagaaaaaaga	15	10	13	3	0	0	4	0	2	0	2	0	4	0	4	0	3	1	3	0	3	8	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr2:230663763T>C	uc002vpx.1	-	22	3338	c.3229A>G	c.(3229-3231)Aaa>Gaa	p.K1077E	TRIP12_uc021vxw.1_Missense_Mutation_p.K1062E|TRIP12_uc002vpy.1_Missense_Mutation_p.K759E|TRIP12_uc002vpw.1_Missense_Mutation_p.K1029E|TRIP12_uc010zlz.1_Non-coding_Transcript	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	1029					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGGGGCTTTTAGCTATGAAA	0.343													C	230663763	T	C	230663763	3	2	80	1	0	0	0	0	1	0	0	0	16657	1763	61	3	2973	3	TRIP12	2	230663763	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	29	230663763	12535610	16	5263			1	16		3	3	50	N	T_A	9.719341e-09
GRIP2	80852	broad.mit.edu	37	chr3	14558595	14558595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcttgtgttcccttcttCgctgcctcctccgccccatt	2	15	6	18	2	2	0	0	0	2	0	6	0	5	0	6	0	2	3	6	0	0	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:14558595C>T	uc021wtn.1	-	12	1571	c.1571G>A	c.(1570-1572)cGa>cAa	p.R524Q		NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	428	PDZ 4.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						TTCCCTTCTTCGCTGCCTCCT	0.572													T	14558595	C	T	14558595	3	4	80	1	0	0	0	0	1	0	0	0	6843	884	31	1	1903	1	GRIP2	3	14558595	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		14558595	183463835	17	5264											
TLR9	54106	broad.mit.edu	37	chr3	52255367	52255367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggaggacactctggcGgcagaggcgctggcgcagcc	8	3	17	13	3	1	2	0	0	1	2	1	4	1	4	2	6	1	3	2	6	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr3:52255367G>T	uc003ddb.3	-	4	3466	c.3256C>A	c.(3256-3258)Cgc>Agc	p.R1086S	TLR9_uc003dda.2_Missense_Mutation_p.R989S	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	989					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	ACACTCTGGCGGCAGAGGCGC	0.687													T	52255367	G	T	52255367	3	4	80	1	0	0	0	0	1	0	0	0	16058	1116	39	4	137	4	TLR9	3	52255367	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	37696772	52255367	145767063	18	5265											
TNIP3	79931	broad.mit.edu	37	chr4	122075742	122075742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcacattcgtaatgttcCttttccttgttcgcaagagt	8	18	6	9	2	1	1	1	0	0	1	5	1	3	1	2	0	0	4	2	0	2	8			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr4:122075742C>G	uc021xrj.1	-	7	766	c.687G>C	c.(685-687)aaG>aaC	p.K229N	TNIP3_uc010ing.3_Missense_Mutation_p.K152N|TNIP3_uc011cgj.2_Missense_Mutation_p.K222N|TNIP3_uc010ini.3_Missense_Mutation_p.K152N	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	152										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CGTAATGTTCCTTTTCCTTGT	0.343													G	122075742	C	G	122075742	3	3	80	1	0	0	0	0	1	0	0	0	16416	680	24	4	549	4	TNIP3	4	122075742	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		122075742	69078534	19	5266											
BRD9	65980	broad.mit.edu	37	chr5	865623	865623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgcctgtgcttcgtgcagGtcctgcaggagcttcgtcgt	3	12	13	13	4	0	0	0	0	0	0	5	1	2	1	3	2	4	4	3	2	0	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:865623G>C	uc003jbq.3	-	14	1766	c.1599C>G	c.(1597-1599)gaC>gaG	p.D533E	BRD9_uc003jbl.3_Missense_Mutation_p.D417E|BRD9_uc003jbm.3_Non-coding_Transcript|BRD9_uc003jbn.3_Non-coding_Transcript|BRD9_uc011cmb.2_Missense_Mutation_p.D480E|BRD9_uc003jbo.3_Missense_Mutation_p.D437E	NM_023924	NP_076413	Q9H8M2	BRD9_HUMAN	Homo sapiens bromodomain containing 9 (BRD9), transcript variant 1, mRNA.	533							nucleic acid binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(3)	29			Epithelial(17;0.00202)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00815)|Lung(60;0.185)			CTTCGTGCAGGTCCTGCAGGA	0.617													C	865623	G	C	865623	3	2	80	1	0	0	0	0	1	0	0	0	1516	1252	44	4	202	4	BRD9	5	865623	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		865623	180049637	20	5267											
MARVELD2	153562	broad.mit.edu	37	chr5	68728420	68728420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttcaaggaactgagaacaGcaaaaatgaaacctgaacta	20	7	7	7	0	1	3	1	3	0	1	1	5	1	4	1	1	5	1	1	1	8	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:68728420G>A	uc003jwq.3	+	3	1323	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MARVELD2_uc010ixf.3_Missense_Mutation_p.A405T|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	417					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACTGAGAACAGCAAAAATGAA	0.448													A	68728420	G	A	68728420	3	1	80	1	0	0	0	0	1	0	0	0	9393	971	34	2	1259	2	MARVELD2	5	68728420	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	67862797	68728420	112186840	21	5268											
SLCO6A1	133482	broad.mit.edu	37	chr5	101816005	101816005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttttctgtctccataGaatgctataaatattgctac	11	18	4	8	0	2	1	0	0	2	1	3	1	2	1	1	0	3	2	1	0	7	9			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:101816005G>T	uc003knn.3	-	1	664	c.492C>A	c.(490-492)ttC>ttA	p.F164L	SLCO6A1_uc003kno.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knp.3_Missense_Mutation_p.F164L|SLCO6A1_uc003knq.3_Missense_Mutation_p.F164L	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	164						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TGTCTCCATAGAATGCTATAA	0.338													T	101816005	G	T	101816005	3	4	80	1	0	0	0	0	1	0	0	0	14826	933	33	4	1715	4	SLCO6A1	5	101816005	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	33087585	101816005	79099255	22	5269											
CHSY3	337876	broad.mit.edu	37	chr5	129519964	129519964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attatgaacacaatcggaagGgttacatccaagaccttcac	15	9	7	10	1	1	2	1	1	0	1	3	3	2	3	2	2	2	1	2	2	6	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:129519964G>A	uc003kvd.3	+	2	1129	c.1129G>A	c.(1129-1131)Ggt>Agt	p.G377S		NM_175856	NP_787052	Q70JA7	CHSS3_HUMAN	Homo sapiens chondroitin sulfate synthase 3 (CHSY3), mRNA.	377						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		CAATCGGAAGGGTTACATCCA	0.338													A	129519964	G	A	129519964	3	1	80	1	0	0	0	0	1	0	0	0	3443	1232	43	2	1139	2	CHSY3	5	129519964	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	27703959	129519964	51395296	23	5270											
FBXO38	81545	broad.mit.edu	37	chr5	147784293	147784293	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcccaatgctaaggcaccTttatatgaagtgggtaagac	13	11	9	8	0	0	2	0	1	0	1	1	2	1	2	2	2	1	3	2	2	7	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:147784293T>G	uc003lpf.1	+	5	758	c.638T>G	c.(637-639)cTt>cGt	p.L213R	FBXO38_uc003lpg.1_Missense_Mutation_p.L213R|FBXO38_uc003lph.2_Missense_Mutation_p.L213R	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	213						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAAGGCACCTTTATATGAAG	0.348													G	147784293	T	G	147784293	3	3	80	1	0	0	0	0	1	0	0	0	5795	1609	56	5	656	5	FBXO38	5	147784293	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	18264329	147784293	33130967	24	5271											
SLIT3	6586	broad.mit.edu	37	chr5	168212916	168212916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagttcctactcacagcaGctgtagggacaccagcccat	12	7	8	14	0	1	0	1	0	0	0	2	1	2	1	3	1	4	4	3	1	3	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:168212916G>A	uc010jjg.3	-	11	1567	c.1147C>T	c.(1147-1149)Ctg>Ttg	p.L383L	SLIT3_uc003mab.3_Silent_p.L383L|SLIT3_uc010jji.2_Silent_p.L383L|SLIT3_uc003mac.1_Silent_p.L180L	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	383					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACTCACAGCAGCTGTAGGGAC	0.493													A	168212916	G	A	168212916	2	1	80	1	0	0	0	0	0	0	0	1	14835	962	34	2		2	SLIT3	5	168212916	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	20428623	168212916	12702344	25	5272											
NSD1	64324	broad.mit.edu	37	chr5	176638305	176638305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacacaattcagagaaaaagGgagatggcactcagaactcc	17	5	9	10	0	2	3	2	0	0	3	3	5	3	3	1	2	1	1	1	2	4	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr5:176638305G>A	uc003mfr.4	+	4	3043	c.2905G>A	c.(2905-2907)Gga>Aga	p.G969R	NSD1_uc003mft.4_Missense_Mutation_p.G700R|NSD1_uc003mfs.1_Missense_Mutation_p.G866R|NSD1_uc011dfx.2_Missense_Mutation_p.G617R	NM_022455	NP_071900	Q96L73	NSD1_HUMAN	Homo sapiens nuclear receptor binding SET domain protein 1 (NSD1), transcript variant 2, mRNA.	969					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AGAGAAAAAGGGAGATGGCAC	0.512			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			A	176638305	G	A	176638305	3	1	80	1	0	0	0	0	1	0	0	0	10745	1233	43	2	2919	2	NSD1	5	176638305	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	8425389	176638305	4276955	26	5273											
PNPLA1	285848	broad.mit.edu	37	chr6	36259268	36259268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgtgagcctcacccGcttaacggacggggagaatg	9	7	13	12	3	1	2	1	1	0	1	2	4	2	3	3	3	2	2	3	3	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:36259268G>A	uc010jwf.2	+	1	377	c.377G>A	c.(376-378)cGc>cAc	p.R126H	PNPLA1_uc010jwe.1_Missense_Mutation_p.R31H|PNPLA1_uc003olw.1_Missense_Mutation_p.R31H	NM_001145717	NP_775947	Q8N8W4	PLPL1_HUMAN	Homo sapiens patatin-like phospholipase domain containing 1 (PNPLA1), transcript variant 3, mRNA.	126	Patatin.				lipid catabolic process		hydrolase activity	p.R31H(1)		breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						AGCCTCACCCGCTTAACGGAC	0.602													A	36259268	G	A	36259268	3	1	80	1	0	0	0	0	1	0	0	0	12241	1087	38	1	383	1	PNPLA1	6	36259268	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		36259268	134855799	27	5274											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753983	41753983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttatgccctgcctgggggaAgcccctgctgccccagctgc	4	8	13	16	0	0	0	0	0	0	0	0	1	0	1	6	2	7	3	6	2	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:41753983A>G	uc011duf.1	+	6	948	c.700A>G	c.(700-702)Agc>Ggc	p.S234G	PRICKLE4_uc003ord.2_Non-coding_Transcript|TOMM6_uc003org.3_5'Flank|TOMM6_uc011dug.1_5'Flank	NM_013397	NP_037529	Q2TBC4	PRIC4_HUMAN	Homo sapiens prickle homolog 4 (Drosophila) (PRICKLE4), mRNA.	194						nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GCCTGGGGGAAGCCCCTGCTG	0.672													G	41753983	A	G	41753983	3	3	80	1	0	0	0	0	1	0	0	0	12575	72	3	3	718	3	PRICKLE4	6	41753983	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	5494715	41753983	129361084	28	5275											
TIAM2	26230	broad.mit.edu	37	chr6	155572049	155572049	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtttttacaatctaggtAacagaactttcgatgggaga	12	13	9	7	1	1	2	0	0	1	2	2	4	1	2	1	2	3	2	1	2	5	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr6:155572049A>C	uc003qqb.3	+	23	5227	c.3954A>C	c.(3952-3954)gtA>gtC	p.V1318V	TIAM2_uc003qqe.3_Silent_p.V1318V|TIAM2_uc010kjj.3_Silent_p.V880V|TIAM2_uc003qqf.3_Silent_p.V694V|TIAM2_uc011efl.1_Silent_p.V654V|TIAM2_uc003qqg.3_Silent_p.V630V|TIAM2_uc003qqh.3_Silent_p.V243V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1318					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.E1317A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CAATCTAGGTAACAGAACTTT	0.423													C	155572049	A	C	155572049	2	2	80	1	0	0	0	0	0	0	0	1	15991	349	13	5		5	TIAM2	6	155572049	Silent	SNP	A	TCGA-06-2563-01A-01D-1494-08	113818066	155572049	15543018	29	5276											
HECW1	23072	broad.mit.edu	37	chr7	43485067	43485067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccggagtccacgaacggcGctgggccgtggcaagacgag	9	3	16	13	6	0	1	0	0	0	1	1	4	1	2	3	4	1	2	3	4	2	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:43485067G>A	uc003tid.1	+	10	2901	c.2296G>A	c.(2296-2298)Gct>Act	p.A766T	HECW1_uc011kbi.1_Missense_Mutation_p.A766T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	766					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CACGAACGGCGCTGGGCCGTG	0.652													A	43485067	G	A	43485067	3	1	80	1	0	0	0	0	1	0	0	0	7097	1087	38	1	2330	1	HECW1	7	43485067	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		43485067	115653596	30	5277											
ZPBP	11055	broad.mit.edu	37	chr7	50121433	50121433	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctatcagttcagcatttcGcagttgttgcgttacacata	9	15	8	9	2	3	0	2	0	1	0	4	0	3	0	0	0	3	6	0	0	3	7			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:50121433G>A	uc003tou.3	-	2	341	c.271C>T	c.(271-273)Cga>Tga	p.R91*	ZPBP_uc010kyw.3_Nonsense_Mutation_p.R91*	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	91					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TCAGCATTTCGCAGTTGTTGC	0.338													A	50121433	G	A	50121433	4	1	80	1	0	0	0	0	0	1	0	0	18318	1095	38	1	808	1	ZPBP	7	50121433	Nonsense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	6636366	50121433	109017230	31	5278											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:55221710C>T	uc003tqk.3	+	6	1000	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221710	C	T	55221710	3	4	80	1	0	0	0	0	1	0	0	0	5006	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	5100277	55221710	103916953	32	5279											
CCDC146	57639	broad.mit.edu	37	chr7	76922321	76922321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgagaaaatgatggctcTtgttgctgagctgtccatga	11	12	11	7	0	1	4	0	4	1	1	2	5	2	4	1	1	3	4	1	1	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:76922321T>C	uc003uga.3	+	17	2595	c.2468T>C	c.(2467-2469)cTt>cCt	p.L823P	CCDC146_uc010ldp.3_Missense_Mutation_p.L537P|CCDC146_uc003ugc.3_Missense_Mutation_p.L160P	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.	823										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ATGATGGCTCTTGTTGCTGAG	0.398													C	76922321	T	C	76922321	3	2	80	1	0	0	0	0	1	0	0	0	2806	1609	56	3	2534	3	CCDC146	7	76922321	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	21700611	76922321	82216342	33	5280											
PCLO	27445	broad.mit.edu	37	chr7	82387898	82387898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagacatgtttcttcaatgcGtttgagtaggactgaccaaa	13	12	9	7	1	2	3	1	2	1	1	2	4	2	4	1	1	1	3	1	1	4	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:82387898G>A	uc003uhx.2	-	24	15711	c.15422C>T	c.(15421-15423)aCg>aTg	p.T5141M		NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	5064					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTTCAATGCGTTTGAGTAGG	0.378													A	82387898	G	A	82387898	3	1	80	1	0	0	0	0	1	0	0	0	11659	1145	40	1	10	1	PCLO	7	82387898	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	5465577	82387898	76750765	34	5281											
SLC26A3	1811	broad.mit.edu	37	chr7	107427951	107427951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagaatacagagtataGtacctacaattataaaaaca	19	11	6	5	0	0	2	0	1	0	2	0	3	0	2	1	0	4	2	1	0	11	8			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:107427951G>C	uc003ver.2	-	6	950	c.739C>G	c.(739-741)Cta>Gta	p.L247V	SLC26A3_uc003ves.2_Missense_Mutation_p.L212V	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	247					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323													C	107427951	G	C	107427951	3	2	80	1	0	0	0	0	1	0	0	0	14612	1020	36	4	1615	4	SLC26A3	7	107427951	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	25040053	107427951	51710712	35	5282											
KEL	3792	broad.mit.edu	37	chr7	142649696	142649696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaagggtcaccaccagcCctaagatcatgtggctctgc	11	7	11	12	0	3	2	2	0	1	2	3	3	3	2	3	2	2	1	3	2	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:142649696C>A	uc003wcb.3	-	9	1313	c.1103G>T	c.(1102-1104)gGg>gTg	p.G368V		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	368					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CACCACCAGCCCTAAGATCAT	0.537													A	142649696	C	A	142649696	3	1	80	1	0	0	0	0	1	0	0	0	8200	623	22	4	1135	4	KEL	7	142649696	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	35221745	142649696	16488967	36	5283											
KCNH2	3757	broad.mit.edu	37	chr7	150649545	150649545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagccgaagatgagcaggtCgaaggggatggcggccacca	12	3	17	9	3	0	3	0	1	0	2	1	6	0	4	3	5	2	1	3	5	2	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr7:150649545C>T	uc003wic.3	-	5	1926	c.1525G>A	c.(1525-1527)Gac>Aac	p.D509N	KCNH2_uc003wib.3_Missense_Mutation_p.D169N|KCNH2_uc011kux.2_Missense_Mutation_p.D413N|KCNH2_uc003wid.3_Missense_Mutation_p.D169N|KCNH2_uc003wie.3_Missense_Mutation_p.D509N	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	509					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	ATGAGCAGGTCGAAGGGGATG	0.632													T	150649545	C	T	150649545	3	4	80	1	0	0	0	0	1	0	0	0	8090	884	31	1	2263	1	KCNH2	7	150649545	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7999849	150649545	8489118	37	5284											
CYP7B1	9420	broad.mit.edu	37	chr8	65517309	65517309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctaccaagtctccctttCgcacacagtagtccccggtc	7	10	8	16	2	1	0	0	0	1	0	5	0	2	0	4	2	1	3	4	2	3	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:65517309C>T	uc003xvj.2	-	4	1367	c.1163G>A	c.(1162-1164)cGa>cAa	p.R388Q		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	388					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GTCTCCCTTTCGCACACAGTA	0.453													T	65517309	C	T	65517309	3	4	80	1	0	0	0	0	1	0	0	0	4230	884	31	1	365	1	CYP7B1	8	65517309	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		65517309	80846713	38	5285											
RIMS2	9699	broad.mit.edu	37	chr8	104922392	104922392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacaactggttggatcataCgtcttggcatagcagtgagg	10	12	12	7	1	2	1	1	1	1	0	2	2	2	2	0	4	4	3	0	4	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:104922392C>T	uc003yls.3	+	2	1230	c.989C>T	c.(988-990)aCg>aTg	p.T330M	RIMS2_uc003ylp.3_Missense_Mutation_p.T552M|RIMS2_uc003ylw.2_Missense_Mutation_p.T360M|RIMS2_uc003ylq.3_Missense_Mutation_p.T360M|RIMS2_uc003ylr.3_Intron|RIMS2_uc003ylt.3_5'Flank	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	630					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.T330K(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TTGGATCATACGTCTTGGCAT	0.388										HNSCC(12;0.0054)			T	104922392	C	T	104922392	3	4	80	1	0	0	0	0	1	0	0	0	13459	536	19	1	1799	1	RIMS2	8	104922392	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	39405083	104922392	41441630	39	5286											
CSMD3	114788	broad.mit.edu	37	chr8	113988286	113988286	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatacagtaacatctgcAggtgtgctagcaacagcaat	13	9	10	9	0	1	0	0	0	1	0	1	1	1	1	0	2	7	5	0	2	5	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:113988286A>T	uc003ynu.3	-	6	1281	c.1122T>A	c.(1120-1122)ccT>ccA	p.P374P	CSMD3_uc003ynt.3_Silent_p.P334P|CSMD3_uc011lhx.2_Intron	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	374						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAACATCTGCAGGTGTGCTAG	0.493										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113988286	A	T	113988286	2	4	80	1	0	0	0	0	0	0	0	1	3979	175	7	5		5	CSMD3	8	113988286	Silent	SNP	A	TCGA-06-2563-01A-01D-1494-08	9065894	113988286	32375736	40	5287											
COL14A1	7373	broad.mit.edu	37	chr8	121326264	121326264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctgtccattcaaggaatgCccgtgagttgtgttcaaaca	10	12	10	9	1	3	1	2	1	1	0	4	2	4	2	2	1	2	2	2	1	3	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr8:121326264C>T	uc003yox.3	+	37	4814	c.4549C>T	c.(4549-4551)Ccc>Tcc	p.P1517S	COL14A1_uc003yoz.3_Missense_Mutation_p.P482S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1517	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCAAGGAATGCCCGTGAGTTG	0.468													T	121326264	C	T	121326264	3	4	80	1	0	0	0	0	1	0	0	0	3702	739	26	2	4695	2	COL14A1	8	121326264	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7337978	121326264	25037758	41	5288											
IDE	3416	broad.mit.edu	37	chr10	94267958	94267958	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccaacaagagtattaacCcagcctgcaacattcaaagg	16	6	6	13	0	1	1	1	0	0	1	1	1	1	1	4	1	5	2	4	1	6	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:94267958C>G	uc001kia.3	-	7	1141	c.1065G>C	c.(1063-1065)tgG>tgC	p.W355C		NM_004969	NP_004960	P14735	IDE_HUMAN	Homo sapiens insulin-degrading enzyme (IDE), transcript variant 1, mRNA.	355					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGTATTAACCCAGCCTGCAA	0.358													G	94267958	C	G	94267958	3	3	80	1	0	0	0	0	1	0	0	0	7551	624	22	4	2066	4	IDE	10	94267958	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		94267958	41266789	42	5289											
SLK	9748	broad.mit.edu	37	chr10	105762134	105762134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggatattaatgaaCatattaccgatgctcagtta	13	13	9	6	1	1	1	1	1	0	0	1	4	1	3	1	2	3	2	1	2	6	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr10:105762134C>A	uc001kxo.1	+	8	1232	c.1198C>A	c.(1198-1200)Cat>Aat	p.H400N	SLK_uc001kxp.1_Missense_Mutation_p.H400N	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	400	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TATTAATGAACATATTACCGA	0.388													A	105762134	C	A	105762134	3	1	80	1	0	0	0	0	1	0	0	0	14842	478	17	4	1232	4	SLK	10	105762134	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	11494176	105762134	29772613	43	5290											
SIRT3	23410	broad.mit.edu	37	chr11	233173	233173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcctcggggtacgggagAtcgtactgctggaggttgct	6	10	17	8	3	0	1	0	0	0	1	2	3	0	2	1	6	4	5	1	6	2	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:233173A>C	uc001lok.4	-	2	550	c.516T>G	c.(514-516)gaT>gaG	p.D172E	SIRT3_uc001loj.4_Missense_Mutation_p.D30E|SIRT3_uc010qvm.2_Missense_Mutation_p.D108E|SIRT3_uc010qvn.2_Missense_Mutation_p.D91E|SIRT3_uc010qvo.2_Missense_Mutation_p.D172E|SIRT3_uc010qvp.2_Missense_Mutation_p.D172E|SIRT3_uc010qvq.2_Missense_Mutation_p.D30E|SIRT3_uc009ybt.1_Non-coding_Transcript	NM_012239	NP_001017524	Q9NTG7	SIRT3_HUMAN	Homo sapiens sirtuin 3 (SIRT3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	172	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		GGTACGGGAGATCGTACTGCT	0.532													C	233173	A	C	233173	3	2	80	1	0	0	0	0	1	0	0	0	14433	330	12	5	703	5	SIRT3	11	233173	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08		233173	134773343	44	5291											
OR51M1	390059	broad.mit.edu	37	chr11	5411176	5411176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttttccctactgtggatCtgtggtcctctcccactcat	4	15	8	14	0	3	0	1	0	2	0	6	1	5	1	3	3	1	1	3	3	1	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:5411176C>G	uc010qzc.2	+	0	570	c.548C>G	c.(547-549)tCt>tGt	p.S183C	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	183						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TACTGTGGATCTGTGGTCCTC	0.517													G	5411176	C	G	5411176	3	3	80	1	0	0	0	0	1	0	0	0	11179	913	32	4	550	4	OR51M1	11	5411176	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	5178003	5411176	129595340	45	5292											
VWCE	220001	broad.mit.edu	37	chr11	61048379	61048379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcggggggactcagggccCctgggtgaggaaggggtccc	6	5	20	10	1	1	1	1	1	0	0	3	3	2	3	3	8	0	0	3	8	1	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr11:61048379C>T	uc001nra.3	-	7	1395	c.1116G>A	c.(1114-1116)agG>agA	p.R372R	VWCE_uc001nrb.3_Non-coding_Transcript	NM_152718	NP_689931	Q96DN2	VWCE_HUMAN	Homo sapiens von Willebrand factor C and EGF domains (VWCE), mRNA.	372						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						ACTCAGGGCCCCTGGGTGAGG	0.677													T	61048379	C	T	61048379	2	4	80	1	0	0	0	0	0	0	0	1	17347	622	22	2		2	VWCE	11	61048379	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	55637203	61048379	73958137	46	5293											
SCNN1A	6337	broad.mit.edu	37	chr12	6463925	6463925	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcctcacctgctgtgtGtactttgaagggtaaaggtt	7	14	13	7	0	1	1	1	1	0	0	1	1	1	1	2	3	2	4	2	3	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:6463925G>T	uc001qnw.3	-	5	1674	c.1410C>A	c.(1408-1410)taC>taA	p.Y470*	SCNN1A_uc001qnv.3_Nonsense_Mutation_p.Y111*|SCNN1A_uc001qnx.3_Nonsense_Mutation_p.Y411*|SCNN1A_uc010sfb.2_Nonsense_Mutation_p.Y434*	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	411					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCTGCTGTGTGTACTTTGAAG	0.557													T	6463925	G	T	6463925	4	4	80	1	0	0	0	0	0	1	0	0	14020	1372	48	4	804	4	SCNN1A	12	6463925	Nonsense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		6463925	127387970	47	5294											
CLEC1A	51267	broad.mit.edu	37	chr12	10224014	10224014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttctctcacagacacaaCgcttcaattctttgcagtcc	9	12	4	16	1	4	1	2	0	2	1	6	1	5	1	2	0	2	2	2	0	2	4	rs147882348	by1000genomes	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:10224014C>T	uc001qxb.3	-	5	845	c.761G>A	c.(760-762)cGt>cAt	p.R254H	CLEC1A_uc001qxd.3_Missense_Mutation_p.R211H|CLEC1A_uc010sgx.2_Missense_Mutation_p.R152H	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	254	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						ACAGACACAACGCTTCAATTC	0.488													T	10224014	C	T	10224014	3	4	80	1	0	0	0	0	1	0	0	0	3536	536	19	1	85	1	CLEC1A	12	10224014	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	3760089	10224014	123627881	48	5295											
KRT18	3875	broad.mit.edu	37	chr12	53343221	53343221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaccatgcaaagcctgaaCgaccgcctggcctcttacct	10	7	9	15	2	1	2	0	1	1	1	1	4	1	2	6	1	4	1	6	1	3	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:53343221C>T	uc001sbe.3	+	1	333	c.264C>T	c.(262-264)aaC>aaT	p.N88N	KRT18_uc009zmn.2_Silent_p.N88N|KRT18_uc001sbg.3_Silent_p.N88N|KRT8_uc009zml.1_Intron|KRT8_uc009zmm.1_Intron	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	88	Coil 1A.|Interaction with TRADD.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AAAGCCTGAACGACCGCCTGG	0.647													T	53343221	C	T	53343221	2	4	80	1	0	0	0	0	0	0	0	1	8513	535	19	1		1	KRT18	12	53343221	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	43119207	53343221	80508674	49	5296											
PTPRR	5801	broad.mit.edu	37	chr12	71094985	71094985	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaccttgtgagaattcGgctggctgactgcagatact	9	11	12	9	1	0	4	0	3	0	3	1	6	0	4	1	2	2	3	1	2	2	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:71094985G>T	uc001swi.2	-	6	1540	c.1126C>A	c.(1126-1128)Cga>Aga	p.R376R	PTPRR_uc001swh.2_Silent_p.R131R|PTPRR_uc009zrs.3_Silent_p.R170R|PTPRR_uc010stq.2_Silent_p.R264R|PTPRR_uc010str.1_Silent_p.R225R	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	376					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GTGAGAATTCGGCTGGCTGAC	0.458													T	71094985	G	T	71094985	2	4	80	1	0	0	0	0	0	0	0	1	12898	1124	39	4		4	PTPRR	12	71094985	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	17751764	71094985	62756910	50	5297											
WSCD2	9671	broad.mit.edu	37	chr12	108600179	108600179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacaactgtgctgaaCggtagggtcccagcatccca	10	6	12	13	1	0	1	0	1	0	0	2	2	2	2	3	3	4	3	3	3	3	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:108600179C>T	uc001tms.3	+	3	1241	c.497_splice	c.e3+1	p.R166_splice	WSCD2_uc001tmt.3_Splice_Site_p.R166_splice	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	166	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTGTGCTGAACGGTAGGGTCC	0.527													T	108600179	C	T	108600179	3	4	80	1	0	0	0	0	1	0	0	0	17509	550	19	1	502	1	WSCD2	12	108600179	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	37505194	108600179	25251716	51	5298											
TMEM132D	121256	broad.mit.edu	37	chr12	130184469	130184469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccacgctgttgtccagaCgcagttctctcagggagggt	6	10	14	11	2	2	1	1	0	1	1	4	2	3	2	2	3	0	4	2	3	0	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr12:130184469C>T	uc009zyl.1	-	1	1182	c.854G>A	c.(853-855)cGt>cAt	p.R285H		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	285						integral to membrane		p.L284R(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTTGTCCAGACGCAGTTCTCT	0.522													T	130184469	C	T	130184469	3	4	80	1	0	0	0	0	1	0	0	0	16147	536	19	1	2477	1	TMEM132D	12	130184469	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	21584290	130184469	3667426	52	5299											
FAM70B	348013	broad.mit.edu	37	chr13	114502323	114502323	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctctaggaaccgaggccCctcaccacgggaagatgcca	10	7	10	14	2	2	1	1	0	1	1	3	4	2	3	5	3	2	0	5	3	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr13:114502323C>G	uc001vuh.3	+	4	381	c.354C>G	c.(352-354)ccC>ccG	p.P118P		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	118						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			AACCGAGGCCCCTCACCACGG	0.542													G	114502323	C	G	114502323	2	3	80	1	0	0	0	0	0	0	0	1	5656	610	22	4		4	FAM70B	13	114502323	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08		114502323	667555	53	5300											
OR11H6	122748	broad.mit.edu	37	chr14	20692418	20692418	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattgttcttatctcccaaCttcccttctgtgggcccaac	6	15	5	15	0	3	0	0	0	3	0	5	0	4	0	3	1	2	1	3	1	4	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:20692418C>A	uc010tlc.2	+	0	550	c.550C>A	c.(550-552)Ctt>Att	p.L184I		NM_001004480	NP_001004480	Q8NGC7	O11H6_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 6 (OR11H6), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TATCTCCCAACTTCCCTTCTG	0.507													A	20692418	C	A	20692418	3	1	80	1	0	0	0	0	1	0	0	0	11005	565	20	4	552	4	OR11H6	14	20692418	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		20692418	86657122	54	5301											
RPL10L	140801	broad.mit.edu	37	chr14	47120841	47120841	+	Frame_Shift_Del	DEL	G	G	-																															ttctttctacccaggtcaaaGatgcggatcttggcatcagg																										TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr14:47120841delG	uc001wwg.3	-	0	188	c.99delC	c.(97-99)atcfs	p.I33fs		NM_080746	NP_542784	Q96L21	RL10L_HUMAN	Homo sapiens ribosomal protein L10-like (RPL10L), mRNA.	33					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.I33I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CCAGGTCAAAGATGCGGATCT	0.537													-	47120841	G	-	47120841	7	5	80	1	0	1	0	1	0	0	0	0	13647	932	33	0	549	0	RPL10L	14	47120841	Frame_Shift_Del	DEL	G	TCGA-06-2563-01A-01D-1494-08	26428423	47120841	60228699	55	5302											
MAPKBP1	23005	broad.mit.edu	37	chr15	42106769	42106769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctcttctctggagtggcGaatgccaggtatccagacac	8	9	11	13	2	2	1	0	0	2	1	4	3	3	2	3	3	1	1	3	3	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42106769G>A	uc001zok.4	+	10	1306	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	MAPKBP1_uc010bci.3_Silent_p.A334A|MAPKBP1_uc010udb.2_Silent_p.A222A|MAPKBP1_uc001zoj.4_Silent_p.A334A|MAPKBP1_uc010bcj.3_Intron|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Intron	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	340										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CTGGAGTGGCGAATGCCAGGT	0.488													A	42106769	G	A	42106769	2	1	80	1	0	0	0	0	0	0	0	1	9367	1045	37	1		1	MAPKBP1	15	42106769	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08		42106769	60424623	56	5303											
MAPKBP1	23005	broad.mit.edu	37	chr15	42111074	42111074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatcagcatgaggcagcGtctggccgagttgcgccagc	8	6	14	13	3	2	1	1	1	1	0	2	3	2	1	3	2	4	3	3	2	0	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:42111074G>A	uc001zok.4	+	20	2514	c.2228G>A	c.(2227-2229)cGt>cAt	p.R743H	MAPKBP1_uc010bci.3_Missense_Mutation_p.R737H|MAPKBP1_uc010udb.2_Missense_Mutation_p.R576H|MAPKBP1_uc001zoj.4_Missense_Mutation_p.R737H|MAPKBP1_uc010bcj.3_Missense_Mutation_p.R244H|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.R244H	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	743								p.R737H(1)		breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATGAGGCAGCGTCTGGCCGAG	0.602													A	42111074	G	A	42111074	3	1	80	1	0	0	0	0	1	0	0	0	9367	1145	40	1	2306	1	MAPKBP1	15	42111074	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	4305	42111074	60420318	57	5304											
ATP8B4	79895	broad.mit.edu	37	chr15	50339659	50339659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgatgtgtggatacgattAtcctggaaaagaaatagcat	14	12	10	5	2	0	1	0	0	0	1	2	5	1	3	1	2	2	1	1	2	6	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr15:50339659A>T	uc001zxu.3	-	3	232	c.90T>A	c.(88-90)gaT>gaA	p.D30E	ATP8B4_uc010ber.3_5'UTR|ATP8B4_uc010ufd.2_5'UTR|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	30					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.D30D(2)|p.A29V(1)|p.A29A(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		GGATACGATTATCCTGGAAAA	0.373													T	50339659	A	T	50339659	3	4	80	1	0	0	0	0	1	0	0	0	1202	446	16	5	3588	5	ATP8B4	15	50339659	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	8228585	50339659	52191733	58	5305											
PTX4	390667	broad.mit.edu	37	chr16	1536134	1536134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgaaggcctcggagctgtCgaatccgccccccacgctgt	7	6	11	17	5	0	0	0	0	0	0	3	3	1	1	5	2	1	2	5	2	2	0	rs149572258		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:1536134C>T	uc010uvf.2	-	2	1228	c.1228G>A	c.(1228-1230)Gac>Aac	p.D410N		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	415	Pentaxin.					extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCGGAGCTGTCGAATCCGCCC	0.652													T	1536134	C	T	1536134	3	4	80	1	0	0	0	0	1	0	0	0	12911	884	31	1	196	1	PTX4	16	1536134	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		1536134	88818619	59	5306											
SRRM2	23524	broad.mit.edu	37	chr16	2817214	2817214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccagcagccaaccttGccagcaggattcctgcagcc	9	5	9	18	1	0	0	0	0	0	0	1	1	1	1	7	1	7	4	7	1	1	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:2817214G>C	uc002crk.3	+	10	7234	c.6685G>C	c.(6685-6687)Gcc>Ccc	p.A2229P	SRRM2_uc002crj.1_Missense_Mutation_p.A2133P|SRRM2_uc002crl.1_Missense_Mutation_p.A2229P|SRRM2_uc010bsu.1_Missense_Mutation_p.A2133P	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	2229	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGCCAACCTTGCCAGCAGGAT	0.612													C	2817214	G	C	2817214	3	2	80	1	0	0	0	0	1	0	0	0	15265	1319	46	4	6723	4	SRRM2	16	2817214	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	1281080	2817214	87537539	60	5307											
DNAH3	55567	broad.mit.edu	37	chr16	21033373	21033373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaatttacaatgaaggCgaccaaattccaggcagggc	16	6	9	10	1	0	1	0	1	0	0	1	2	1	1	2	3	2	1	2	3	6	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr16:21033373C>T	uc010vbe.2	-	39	5696	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1899	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R1899C(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATGAAGGCGACCAAATTC	0.458													T	21033373	C	T	21033373	3	4	80	1	0	0	0	0	1	0	0	0	4642	768	27	1	6745	1	DNAH3	16	21033373	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	18216159	21033373	69321380	61	5308											
POLR2A	5430	broad.mit.edu	37	chr17	7404279	7404279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtggagaatggggaGctgatcatgggcatcctgtg	7	10	19	5	0	1	2	1	1	0	1	2	4	2	3	1	6	1	2	1	6	1	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7404279G>A	uc002ghf.4	+	11	2288	c.1902G>A	c.(1900-1902)gaG>gaA	p.E634E		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	634					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				agaatggggagctgatcatgg	0.557													A	7404279	G	A	7404279	2	1	80	1	0	0	0	0	0	0	0	1	12291	962	34	2		2	POLR2A	17	7404279	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08		7404279	73790931	62	5309											
TP53	7157	broad.mit.edu	37	chr17	7578541	7578541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcaaaacatcttgttgAgggcaggggagtactgtagg	10	10	16	5	0	1	1	0	1	1	0	1	2	1	2	0	5	2	6	0	5	4	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:7578541A>G	uc002gim.2	-	4	583	c.389T>C	c.(388-390)cTc>cCc	p.L130P	TP53_uc002gig.1_Missense_Mutation_p.L130P|TP53_uc002gih.3_Missense_Mutation_p.L130P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130P|TP53_uc010cnh.1_Missense_Mutation_p.L130P|TP53_uc002gij.2_Missense_Mutation_p.L130P|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37P|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91P	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130R(14)|p.Y126_K132delYSPALNK(12)|p.L130V(11)|p.L130F(10)|p.0?(8)|p.L130H(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130fs*41(4)|p.S127_Q136del10(2)|p.A129_N131delALN(2)|p.L130P(2)|p.L130fs*19(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.N131fs*27(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.Y126fs*11(1)|p.A129_L130insXX(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.A129G(1)|p.A129D(1)|p.L130fs*40(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		CATCTTGTTGAGGGCAGGGGA	0.557		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)			G	7578541	A	G	7578541	3	3	80	1	0	0	0	0	1	0	0	0	16482	304	11	3	909	3	TP53	17	7578541	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	174262	7578541	73616669	63	5310											
C17orf39	79018	broad.mit.edu	37	chr17	17943061	17943061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtgtcccccgccggccGgtgcctccgctgcctccgcg	1	6	13	21	7	0	0	0	0	0	0	3	1	3	0	9	2	2	1	9	2	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:17943061G>A	uc002gsg.1	+	0	451	c.283G>A	c.(283-285)Ggt>Agt	p.G95S	ATPAF2_uc002gsd.1_5'Flank|ATPAF2_uc002gse.1_5'Flank|ATPAF2_uc010vxf.1_5'Flank	NM_024052	NP_076957	Q8IVV7	CQ039_HUMAN	Homo sapiens chromosome 17 open reading frame 39 (C17orf39), mRNA.	95	Pro-rich.									large_intestine(2)|lung(1)|ovary(2)|skin(1)	6	all_neural(463;0.228)					CCCGCCGGCCGGTGCCTCCGC	0.766													A	17943061	G	A	17943061	3	1	80	1	0	0	0	0	1	0	0	0	1871	1116	39	1	285	1	C17orf39	17	17943061	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	10364520	17943061	63252149	64	5311											
ACACA	31	broad.mit.edu	37	chr17	35614745	35614745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaacattcttattgctgCggaaatttagctcctgaact	11	13	6	11	1	1	1	0	1	1	0	2	2	2	2	2	1	5	2	2	1	5	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:35614745C>T	uc002hnm.3	-	13	1786	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	ACACA_uc002hnk.3_Missense_Mutation_p.R454H|ACACA_uc002hnl.3_Missense_Mutation_p.R474H|ACACA_uc002hnn.3_Missense_Mutation_p.R532H|ACACA_uc002hno.3_Missense_Mutation_p.R569H|ACACA_uc010cuz.3_Missense_Mutation_p.R532H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	532	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTTATTGCTGCGGAAATTTAG	0.413													T	35614745	C	T	35614745	3	4	80	1	0	0	0	0	1	0	0	0	106	768	27	1	5617	1	ACACA	17	35614745	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	17671684	35614745	45580465	65	5312											
KRT33A	3883	broad.mit.edu	37	chr17	39503142	39503142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccagggcattgaccgtgCgtctcagctcgatgatctcc	6	11	10	14	3	3	2	1	2	3	0	7	3	3	2	3	1	2	2	3	1	0	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39503142C>T	uc002hwk.1	-	4	867	c.830G>A	c.(829-831)cGc>cAc	p.R277H		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	277	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ATTGACCGTGCGTCTCAGCTC	0.582													T	39503142	C	T	39503142	3	4	80	1	0	0	0	0	1	0	0	0	8527	768	27	1	396	1	KRT33A	17	39503142	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	3888397	39503142	41692068	66	5313											
JUP	3728	broad.mit.edu	37	chr17	39681243	39681243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgcgcagagcctgttccGtctcaaacctttcaaaggaa	11	10	8	12	2	3	1	3	0	1	1	5	2	4	2	3	1	3	2	3	1	3	2	rs138005000	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:39681243G>A	uc010wfs.2	-	5	1009	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	JUP_uc002hxd.4_Missense_Mutation_p.T171M	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		AGCCTGTTCCGTCTCAAACCT	0.587													A	39681243	G	A	39681243	3	1	80	1	0	0	0	0	1	0	0	0	8030	1145	40	1		1	JUP	17	39681243	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08	178101	39681243	41513967	67	5314											
EPN3	55040	broad.mit.edu	37	chr17	48614388	48614388	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcgcatggcactggaGggcatcggcattggcagtgg	9	6	18	8	2	0	0	0	0	0	0	1	2	0	2	0	7	1	5	0	7	1	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr17:48614388G>A	uc010wms.2	+	2	824	c.636G>A	c.(634-636)gaG>gaA	p.E212E	EPN3_uc002ira.4_Silent_p.E157E|EPN3_uc010wmt.2_Non-coding_Transcript|EPN3_uc010wmu.2_Silent_p.E157E			Q9H201	EPN3_HUMAN	Homo sapiens epsin 3 (EPN3), mRNA.	157						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			TGGCACTGGAGGGCATCGGCA	0.657													A	48614388	G	A	48614388	2	1	80	1	0	0	0	0	0	0	0	1	5228	991	35	2		2	EPN3	17	48614388	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	8933145	48614388	32580822	68	5315											
APBA3	9546	broad.mit.edu	37	chr19	3759564	3759564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggacactcaccctccTggggggcagggtaggaagcc	7	4	18	12	1	1	0	1	0	0	0	2	2	2	2	3	7	1	2	3	7	2	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:3759564T>C	uc002lyp.1	-	2	788	c.611A>G	c.(610-612)cAg>cGg	p.Q204R		NM_004886	NP_004877	O96018	APBA3_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family A, member 3 (APBA3), mRNA.	204					intracellular signal transduction|protein transport	intracellular|membrane	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00467)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCACCCTCCTGGGGGGCAGG	0.632													C	3759564	T	C	3759564	3	2	80	1	0	0	0	0	1	0	0	0	760	1580	55	3	1152	3	APBA3	19	3759564	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08		3759564	55369419	69	5316											
CLPP	8192	broad.mit.edu	37	chr19	6366351	6366351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacatctacgccaagcacaCcaaacagagcctgcaggtga	15	5	8	13	1	1	2	0	1	1	1	1	2	1	2	3	1	6	2	3	1	4	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6366351C>T	uc002mem.1	+	4	761	c.638C>T	c.(637-639)aCc>aTc	p.T213I		NM_006012	NP_006003	Q16740	CLPP_HUMAN	Homo sapiens ClpP caseinolytic peptidase, ATP-dependent, proteolytic subunit homolog (E. coli) (CLPP), nuclear gene encoding mitochondrial protein, mRNA.	213					proteolysis	mitochondrial matrix	ATP binding|protein binding|serine-type endopeptidase activity	p.T213A(1)		endometrium(2)|large_intestine(2)|ovary(2)	6						GCCAAGCACACCAAACAGAGC	0.557													T	6366351	C	T	6366351	3	4	80	1	0	0	0	0	1	0	0	0	3583	507	18	2	656	2	CLPP	19	6366351	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	2606787	6366351	52762632	70	5317											
VAV1	7409	broad.mit.edu	37	chr19	6772889	6772889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgcccagccaccgcgtgaCctgggatggggctcaggtgt	5	6	16	14	3	1	1	1	1	0	0	1	2	1	2	5	4	1	1	5	4	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:6772889C>A	uc002mfu.1	+	0	168	c.71C>A	c.(70-72)aCc>aAc	p.T24N	VAV1_uc010xjh.1_Missense_Mutation_p.T24N|VAV1_uc010dva.1_Missense_Mutation_p.T24N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	24	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CACCGCGTGACCTGGGATGGG	0.662													A	6772889	C	A	6772889	3	1	80	1	0	0	0	0	1	0	0	0	17233	507	18	4	73	4	VAV1	19	6772889	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	406538	6772889	52356094	71	5318											
CYP4F8	11283	broad.mit.edu	37	chr19	15730340	15730340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtcttctacaagacccTgaagccctggctgggtaagt	10	10	10	11	0	2	2	0	1	2	1	2	2	2	2	2	2	2	2	2	2	5	4			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:15730340T>C	uc002nbi.3	+	3	447	c.383T>C	c.(382-384)cTg>cCg	p.L128P	CYP4F8_uc010xoi.1_3'UTR|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	128					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TACAAGACCCTGAAGCCCTGG	0.537													C	15730340	T	C	15730340	3	2	80	1	0	0	0	0	1	0	0	0	4224	1580	55	3	393	3	CYP4F8	19	15730340	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	8957451	15730340	43398643	72	5319											
PSG7	5676	broad.mit.edu	37	chr19	43433692	43433692	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatagtttgtgacaccaaatAggtagagggtcctgttggtt	10	14	12	5	0	0	2	0	1	0	1	1	2	1	2	2	3	0	4	2	3	5	7			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:43433692A>T	uc002ovl.4	-	3	710	c.608T>A	c.(607-609)cTa>cAa	p.L203Q	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Missense_Mutation_p.L82Q	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	204	Ig-like C2-type 1.				female pregnancy	extracellular region							Prostate(69;0.00682)				GACACCAAATAGGTAGAGGGT	0.522													T	43433692	A	T	43433692	3	4	80	1	0	0	0	0	1	0	0	0	12745	420	15	5	664	5	PSG7	19	43433692	Missense_Mutation	SNP	A	TCGA-06-2563-01A-01D-1494-08	27703352	43433692	15695291	73	5320											
MYBPC2	4606	broad.mit.edu	37	chr19	50945481	50945481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaccaagtggacagaggCaacaagatcaagttgatggt	14	7	12	8	0	1	3	1	1	0	2	1	4	1	4	2	3	2	2	2	3	5	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr19:50945481C>A	uc002psf.2	+	8	864	c.813C>A	c.(811-813)ggC>ggA	p.G271G		NM_004533	NP_004524	Q14324	MYPC2_HUMAN	Homo sapiens myosin binding protein C, fast type (MYBPC2), mRNA.	271	Ig-like C2-type 2.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGACAGAGGCAACAAGATCA	0.522													A	50945481	C	A	50945481	2	1	80	1	0	0	0	0	0	0	0	1	10088	697	25	4		4	MYBPC2	19	50945481	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	7511789	50945481	8183502	74	5321											
TGM3	7053	broad.mit.edu	37	chr20	2298103	2298103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actacgaccccatgggaaacCccctggacaagggtagtgat	12	6	11	12	1	0	1	0	1	0	0	0	4	0	3	4	3	2	1	4	3	4	2	rs147913958		TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:2298103C>A	uc002wfx.4	+	6	1052	c.955C>A	c.(955-957)Ccc>Acc	p.P319T		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	319					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CATGGGAAACCCCCTGGACAA	0.507													A	2298103	C	A	2298103	3	1	80	1	0	0	0	0	1	0	0	0	15931	623	22	4	981	4	TGM3	20	2298103	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		2298103	60727417	75	5322											
FAM65C	140876	broad.mit.edu	37	chr20	49221267	49221267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgcccatagaaaacttgCccgtggggctgggtgacacc	8	8	13	12	1	0	2	0	1	0	1	0	2	0	2	3	3	4	2	3	3	3	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr20:49221267C>T	uc010zyt.2	-	11	1252	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.G330D|FAM65C_uc002xvn.1_Missense_Mutation_p.G330D	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	330										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGAAAACTTGCCCGTGGGGCT	0.592													T	49221267	C	T	49221267	3	4	80	1	0	0	0	0	1	0	0	0	5651	739	26	2	1895	2	FAM65C	20	49221267	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	46923164	49221267	13804253	76	5323											
TRPM2	7226	broad.mit.edu	37	chr21	45789188	45789188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcggagtcgccacctggGgcactgtccaccgccgcgag	6	5	13	17	5	0	0	0	0	0	0	3	2	1	1	6	3	0	1	6	3	0	0			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr21:45789188G>A	uc010gpt.1	+	4	833	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TRPM2_uc002zet.1_Missense_Mutation_p.G245S|TRPM2_uc002zeu.1_Missense_Mutation_p.G245S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G245S|TRPM2_uc002zex.1_Missense_Mutation_p.G31S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	245						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CGCCACCTGGGGCACTGTCCA	0.667													A	45789188	G	A	45789188	3	1	80	1	0	0	0	0	1	0	0	0	16687	1232	43	2	751	2	TRPM2	21	45789188	Missense_Mutation	SNP	G	TCGA-06-2563-01A-01D-1494-08		45789188	2340707	77	5324											
ZBED4	9889	broad.mit.edu	37	chr22	50280049	50280049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccattaacgagatgtcCgtcgagtgtaacttccgaga	11	9	12	9	4	0	2	0	0	0	2	3	5	2	2	3	1	2	1	3	1	2	3			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chr22:50280049C>T	uc003bix.2	+	1	3209	c.2739C>T	c.(2737-2739)tcC>tcT	p.S913S	ZBED4_uc021wrx.1_Silent_p.S913S	NM_014838	NP_055653	O75132	ZBED4_HUMAN	Homo sapiens zinc finger, BED-type containing 4 (ZBED4), mRNA.	913						cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		ACGAGATGTCCGTCGAGTGTA	0.587													T	50280049	C	T	50280049	2	4	80	1	0	0	0	0	0	0	0	1	17621	639	23	1		1	ZBED4	22	50280049	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08		50280049	1024517	78	5325											
CXorf23	256643	broad.mit.edu	37	chrX	19968952	19968952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttctttcaatgtcatgtCgtaggtcatttggatctatt	7	18	8	8	1	5	0	3	0	2	0	6	1	5	1	1	2	0	1	1	2	3	6			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:19968952C>T	uc004czp.3	-	6	1664	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	CXorf23_uc011mjg.2_Missense_Mutation_p.R120Q|CXorf23_uc004czo.3_Missense_Mutation_p.R505Q	NM_198279	NP_938020	A2AJT9	CX023_HUMAN	Homo sapiens chromosome X open reading frame 23 (CXorf23), mRNA.	555						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATGTCATGTCGTAGGTCATT	0.368													T	19968952	C	T	19968952	3	4	80	1	0	0	0	0	1	0	0	0	4136	884	31	1	404	1	CXorf23	23	19968952	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08		19968952	135301608	79	5326											
OPHN1	4983	broad.mit.edu	37	chrX	67421527	67421527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtcttccttctcacacagTacttcagtgttaagtccaag	9	13	6	13	1	3	0	2	0	2	0	6	0	5	0	3	0	1	2	3	0	3	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:67421527T>C	uc004dww.4	-	10	1253	c.959A>G	c.(958-960)tAc>tGc	p.Y320C	OPHN1_uc011mpg.2_Missense_Mutation_p.Y320C	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	320	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCTCACACAGTACTTCAGTGT	0.418													C	67421527	T	C	67421527	3	2	80	1	0	0	0	0	1	0	0	0	10951	1638	57	3	1505	3	OPHN1	23	67421527	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	47452575	67421527	87849033	80	5327											
LPAR4	2846	broad.mit.edu	37	chrX	78011289	78011289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaactgttgttttgaccCtttcatctattacttcaccc	7	18	4	12	0	4	2	2	2	2	0	4	2	4	2	2	0	2	2	2	0	3	7			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:78011289C>A	uc022bzj.1	+	0	923	c.923C>A	c.(922-924)cCt>cAt	p.P308H	LPAR4_uc010nme.3_Missense_Mutation_p.P308H	NM_005296	NP_005287	Q99677	LPAR4_HUMAN	Homo sapiens lysophosphatidic acid receptor 4 (LPAR4), mRNA.	308						integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	p.D307N(1)|p.D307Y(1)|p.D307H(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGTTTTGACCCTTTCATCTAT	0.418													A	78011289	C	A	78011289	3	1	80	1	0	0	0	0	1	0	0	0	8977	681	24	4	925	4	LPAR4	23	78011289	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	10589762	78011289	77259271	81	5328											
POF1B	79983	broad.mit.edu	37	chrX	84634326	84634326	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgctcatacactacatttTtttctggaggctgctgggct	6	15	9	11	1	2	0	1	0	1	0	3	1	2	1	0	3	3	4	0	3	2	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:84634326T>C	uc004eer.2	-	1	280	c.134A>G	c.(133-135)aAa>aGa	p.K45R	POF1B_uc004ees.3_Missense_Mutation_p.K45R	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	45							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CACTACATTTTTTTCTGGAGG	0.577													C	84634326	T	C	84634326	3	2	80	1	0	0	0	0	1	0	0	0	12259	1841	64	3	1699	3	POF1B	23	84634326	Missense_Mutation	SNP	T	TCGA-06-2563-01A-01D-1494-08	6623037	84634326	70636234	82	5329											
GUCY2F	2986	broad.mit.edu	37	chrX	108673542	108673542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatttctcataccatttcGaacacatcacttgctcttga	12	14	4	11	1	3	2	2	1	2	1	5	3	3	2	1	0	3	1	1	0	3	5			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:108673542G>A	uc022cch.1	-	6	1870	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Silent_p.F595F	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	595	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ATACCATTTCGAACACATCAC	0.388													A	108673542	G	A	108673542	2	1	80	1	0	0	0	0	0	0	0	1	6953	1049	37	1		1	GUCY2F	23	108673542	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	24039216	108673542	46597018	83	5330											
LAMP2	3920	broad.mit.edu	37	chrX	119565295	119565295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcacaaggaagttgtcGtcatctgcactgcagtcttg	9	11	12	9	1	3	0	1	0	2	0	4	1	3	1	0	2	2	4	0	2	2	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:119565295G>A	uc004ess.4	-						LAMP2_uc004est.4_Silent_p.D372D|LAMP2_uc011mtz.2_Intron	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.						platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						GGAAGTTGTCGTCATCTGCAC	0.438													A	119565295	G	A	119565295	2	1	80	1	0	0	0	0	0	0	0	1	8677	1136	40	1		1	LAMP2	23	119565295	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	10891753	119565295	35705265	84	5331											
GRIA3	2892	broad.mit.edu	37	chrX	122532507	122532507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacatctgcattgacacaCgacgcaatactggtcatagc	13	10	7	11	2	2	1	1	1	1	0	2	2	2	1	0	1	4	2	0	1	5	5	rs148850386	byFrequency	TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:122532507C>T	uc004etq.4	+	6	1225	c.933C>T	c.(931-933)caC>caT	p.H311H	GRIA3_uc004etr.4_Silent_p.H311H|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Silent_p.H295H	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	311					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CATTGACACACGACGCAATAC	0.423													T	122532507	C	T	122532507	2	4	80	1	0	0	0	0	0	0	0	1	6824	535	19	1		1	GRIA3	23	122532507	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	2967212	122532507	32738053	85	5332											
SMARCA1	6594	broad.mit.edu	37	chrX	128657225	128657225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggcttcggtggccgcGgcggccgctccctcctcctg	0	8	16	17	6	0	0	0	0	0	0	4	0	3	0	5	6	0	2	5	6	0	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:128657225G>A	uc011muk.1	-	0	236	c.123C>T	c.(121-123)gcC>gcT	p.A41A	SMARCA1_uc004eun.4_Silent_p.A41A|SMARCA1_uc004eup.4_Silent_p.A41A|SMARCA1_uc011mul.1_Silent_p.A41A	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	41					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						CGGTGGCCGCGGCGGCCGCTC	0.667													A	128657225	G	A	128657225	2	1	80	1	0	0	0	0	0	0	0	1	14862	1103	39	1		1	SMARCA1	23	128657225	Silent	SNP	G	TCGA-06-2563-01A-01D-1494-08	6124718	128657225	26613335	86	5333											
ZNF280C	55609	broad.mit.edu	37	chrX	129370597	129370598	+	Frame_Shift_Del	DEL	TG	TG	-																															gaaggatgtttcaacacataTgaagtatttttcatacctac																										TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:129370597_129370598delTG	uc004evm.3	-	6	712_713	c.509_510delCA	c.(508-510)tcafs	p.S170fs	ZNF280C_uc010nrf.2_Frame_Shift_Del_p.S170fs	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	170	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACACATATGAAGTATTTTT	0.312													-	129370598	TG	-	129370597	7	5	80	1	0	1	0	1	0	0	0	0	17917	1451	51	0	1755	0	ZNF280C	23	129370597	Frame_Shift_Del	DEL	TG	TCGA-06-2563-01A-01D-1494-08	713372	129370597	25899963	87	5334											
MAGEC1	9947	broad.mit.edu	37	chrX	140995644	140995644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgtgagctccttcccCtcctccacttcatcgagtct	5	13	6	17	1	2	1	1	1	1	0	8	2	7	1	6	0	1	1	6	0	0	2			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:140995644C>T	uc004fbt.3	+	3	2778	c.2454C>T	c.(2452-2454)ccC>ccT	p.P818P	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.P477P	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	818							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCCTTCCCCTCCTCCACTT	0.557										HNSCC(15;0.026)			T	140995644	C	T	140995644	2	4	80	1	0	0	0	0	0	0	0	1	9255	668	24	2		2	MAGEC1	23	140995644	Silent	SNP	C	TCGA-06-2563-01A-01D-1494-08	11625047	140995644	14274916	88	5335											
AFF2	2334	broad.mit.edu	37	chrX	148035181	148035181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggcagctccagcgaatCggagagcagctctgagtcgg	8	8	14	11	3	2	2	0	1	2	1	5	4	3	2	1	3	4	4	1	3	1	1			TCGA-06-2563-01A-01D-1494-08	TCGA-06-2563-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d81086c-bf8b-4459-abcf-1ff905c6bf74	ed0e22ef-1560-4911-b27c-76044ec96702	g.chrX:148035181C>T	uc004fcp.3	+	9	1948	c.1469C>T	c.(1468-1470)tCg>tTg	p.S490L	AFF2_uc004fcq.3_Missense_Mutation_p.S480L|AFF2_uc004fcr.3_Missense_Mutation_p.S451L|AFF2_uc011mxb.2_Missense_Mutation_p.S455L|AFF2_uc004fcs.3_Missense_Mutation_p.S457L|AFF2_uc011mxc.2_Missense_Mutation_p.S131L	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	490					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGCGAATCGGAGAGCAGC	0.557													T	148035181	C	T	148035181	3	4	80	1	0	0	0	0	1	0	0	0	357	893	31	1	1562	1	AFF2	23	148035181	Missense_Mutation	SNP	C	TCGA-06-2563-01A-01D-1494-08	7039537	148035181	7235379	89	5336											
CELA3B	10136	broad.mit.edu	37	chr1	22333423	22333423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagctgggagatgccGtccagctcgcctcactccct	5	7	11	18	3	1	1	1	0	0	1	4	2	3	1	5	1	3	2	5	1	0	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:22333423G>A	uc001bfl.3	+	4	434	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_005747	NP_005738	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3A (CELA3A), mRNA.	139	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity	p.V139I(1)		breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						GGGAGATGCCGTCCAGCTCGC	0.627													A	22333423	G	A	22333423	3	1	81	1	0	0	0	0	1	0	0	0	3244	1145	40	1		1	CELA3B	1	22333423	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		22333423	226917198	1	5337											
EPB41	2035	broad.mit.edu	37	chr1	29344851	29344851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtctgaactgggagactacGacccagaactccatggcgtg	11	7	12	11	2	1	3	0	1	1	2	2	5	2	3	2	2	3	0	2	2	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:29344851G>A	uc001brm.2	+	6	1148	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	EPB41_uc001brg.2_Missense_Mutation_p.D132N|EPB41_uc001brh.2_Missense_Mutation_p.D132N|EPB41_uc001brj.2_Missense_Mutation_p.D132N|EPB41_uc001bri.2_Missense_Mutation_p.D306N|EPB41_uc009vtk.2_Missense_Mutation_p.D306N|EPB41_uc001brk.3_Missense_Mutation_p.D341N|EPB41_uc001brl.2_Missense_Mutation_p.D341N|EPB41_uc021okg.1_Missense_Mutation_p.D341N|EPB41_uc009vtm.2_5'UTR|EPB41_uc009vtl.2_Missense_Mutation_p.D132N	NM_001166005	NP_001159477	P11171	41_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked) (EPB41), transcript variant 1, mRNA.	341	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton	p.V340V(1)		NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		GGGAGACTACGACCCAGAACT	0.468													A	29344851	G	A	29344851	3	1	81	1	0	0	0	0	1	0	0	0	5192	1058	37	1	1043	1	EPB41	1	29344851	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7011428	29344851	219905770	2	5338											
EIF2C3	192669	broad.mit.edu	37	chr1	36505436	36505436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcagatactgtgccacaGtaagagttcagagaccccga	14	6	10	11	1	1	3	1	0	0	3	1	5	1	3	3	0	3	3	3	0	3	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:36505436G>A	uc001bzp.3	+	14	2233	c.1888G>A	c.(1888-1890)Gta>Ata	p.V630I	EIF2C3_uc001bzq.3_Missense_Mutation_p.V396I	NM_024852	NP_079128	Q9H9G7	AGO3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2C, 3 (EIF2C3), transcript variant 1, mRNA.	630	Piwi.				mRNA catabolic process|negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(11)|skin(1)|upper_aerodigestive_tract(4)	33		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGTGCCACAGTAAGAGTTCA	0.383													A	36505436	G	A	36505436	3	1	81	1	0	0	0	0	1	0	0	0	5046	1029	36	2	1946	2	EIF2C3	1	36505436	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7160585	36505436	212745185	3	5339											
EPHA10	284656	broad.mit.edu	37	chr1	38197175	38197175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggatctgaaagacgtagCgggtagccggcttcaggttg	8	8	15	10	4	2	2	1	1	1	1	2	3	2	3	2	4	2	4	2	4	3	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:38197175C>T	uc009vvi.3	-	6	1657	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	524	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.T524T(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAAGACGTAGCGGGTAGCCGG	0.592													T	38197175	C	T	38197175	3	4	81	1	0	0	0	0	1	0	0	0	5207	768	27	1	1499	1	EPHA10	1	38197175	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	1691739	38197175	211053446	4	5340											
GBP1	2633	broad.mit.edu	37	chr1	89525904	89525904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacatctcccagaccctcGgtgtccagcagaactaggat	10	9	8	14	1	2	2	0	0	2	2	5	3	3	3	3	2	3	1	3	2	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:89525904G>A	uc001dmx.2	-	2	514	c.294C>T	c.(292-294)acC>acT	p.T98T		NM_002053	NP_002044	P32455	GBP1_HUMAN	Homo sapiens guanylate binding protein 1, interferon-inducible (GBP1), mRNA.	98					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		CCAGACCCTCGGTGTCCAGCA	0.507													A	89525904	G	A	89525904	2	1	81	1	0	0	0	0	0	0	0	1	6327	1103	39	1		1	GBP1	1	89525904	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	51328729	89525904	159724717	5	5341											
TXNIP	10628	broad.mit.edu	37	chr1	145440909	145440909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttctagctcctccCtgctatatggatgtcattcc	5	19	5	12	0	3	0	1	0	2	0	6	1	6	1	3	1	2	2	3	1	3	8			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:145440909C>T	uc001enn.4	+	6	1337	c.996C>T	c.(994-996)ccC>ccT	p.P332P	TXNIP_uc010oys.2_Silent_p.P277P	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	332					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TAGCTCCTCCCTGCTATATGG	0.443													T	145440909	C	T	145440909	2	4	81	1	0	0	0	0	0	0	0	1	16905	668	24	2		2	TXNIP	1	145440909	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	55915005	145440909	103809712	6	5342											
FLG	2312	broad.mit.edu	37	chr1	152278855	152278855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgttgttctgcttgcaCttctggatcctgactgccca	5	15	9	12	1	2	1	0	1	2	0	3	2	3	2	2	1	4	4	2	1	1	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr1:152278855C>T	uc001ezu.1	-	2	8543	c.8507G>A	c.(8506-8508)aGt>aAt	p.S2836N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2836	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCTTGCACTTCTGGATCC	0.557									Ichthyosis				T	152278855	C	T	152278855	3	4	81	1	0	0	0	0	1	0	0	0	5971	565	20	2	3682	2	FLG	1	152278855	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	6837946	152278855	96971766	7	5343											
TBC1D8	11138	broad.mit.edu	37	chr2	101650173	101650173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccccagggactcctccaCcagattcccgtagtaaccag	9	9	7	16	1	0	1	0	0	0	1	4	2	4	2	7	1	1	2	7	1	2	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:101650173C>G	uc010fiv.3	-	9	1737	c.1606G>C	c.(1606-1608)Gtg>Ctg	p.V536L	TBC1D8_uc010yvw.2_Missense_Mutation_p.V551L|TBC1D8_uc002tau.4_Missense_Mutation_p.V293L	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	536	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GACTCCTCCACCAGATTCCCG	0.542													G	101650173	C	G	101650173	3	3	81	1	0	0	0	0	1	0	0	0	15725	507	18	4	1860	4	TBC1D8	2	101650173	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		101650173	141549200	8	5344											
SAP130	79595	broad.mit.edu	37	chr2	128707447	128707447	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggggaaactaacctttGacccggacgtcactgtacct	9	11	9	12	2	2	1	1	1	1	0	2	3	2	3	3	3	3	1	3	3	3	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:128707447G>C	uc010fmd.2	-	17	3003	c.2871C>G	c.(2869-2871)gtC>gtG	p.V957V	SAP130_uc002tpn.2_Silent_p.V682V|SAP130_uc002tpp.2_Silent_p.V922V	NM_001145928	NP_001139400	Q9H0E3	SP130_HUMAN	Homo sapiens Sin3A-associated protein, 130kDa (SAP130), transcript variant 1, mRNA.	922	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		ACTAACCTTTGACCCGGACGT	0.433													C	128707447	G	C	128707447	2	2	81	1	0	0	0	0	0	0	0	1	13922	1277	45	4		4	SAP130	2	128707447	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	27057274	128707447	114491926	9	5345											
KBTBD10	10324	broad.mit.edu	37	chr2	170382111	170382111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtatgaagatgataaaAaagaatgggctgggatgttg	15	10	14	2	0	1	4	1	2	0	2	1	5	1	5	0	3	0	3	0	3	6	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:170382111A>G	uc002ueu.1	+	5	1803	c.1726A>G	c.(1726-1728)Aaa>Gaa	p.K576E	KBTBD10_uc010zdh.1_Missense_Mutation_p.K514E	NM_006063	NP_006054	O60662	KBTBA_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 10 (KBTBD10), mRNA.	576					striated muscle contraction	centrosome|nucleolus|plasma membrane|pseudopodium|ruffle				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|urinary_tract(1)	19						AGATGATAAAAAAGAATGGGC	0.373													G	170382111	A	G	170382111	3	3	81	1	0	0	0	0	1	0	0	0	8048	15	1	3	1748	3	KBTBD10	2	170382111	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	41674664	170382111	72817262	10	5346											
TTN	7273	broad.mit.edu	37	chr2	179419816	179419816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccagctctgagcttcacaGatgtacctgctctgtatttg	7	14	9	11	0	3	2	1	1	2	1	3	2	3	2	2	0	5	5	2	0	2	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:179419816G>A	uc021vsy.1	-	279	80891	c.80666C>T	c.(80665-80667)tCt>tTt	p.S26889F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.S20584F|TTN_uc021vta.1_Missense_Mutation_p.S20517F|TTN_uc021vtb.1_Missense_Mutation_p.S20392F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27816	Fibronectin type-III 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGCTTCACAGATGTACCTGC	0.373													A	179419816	G	A	179419816	3	1	81	1	0	0	0	0	1	0	0	0	16837	942	33	2	19737	2	TTN	2	179419816	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	9037705	179419816	63779557	11	5347											
PLCL1	5334	broad.mit.edu	37	chr2	198966043	198966043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtttctcatagaaatggCggacacagtccaggaaaaga	14	7	11	9	2	1	2	1	0	1	2	3	4	2	4	2	4	0	1	2	4	4	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:198966043C>T	uc010fsp.3	+	3	3352	c.2954C>T	c.(2953-2955)gCg>gTg	p.A985V	PLCL1_uc002uuv.4_Missense_Mutation_p.A906V	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	985					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	ATAGAAATGGCGGACACAGTC	0.343													T	198966043	C	T	198966043	3	4	81	1	0	0	0	0	1	0	0	0	12116	768	27	1	2968	1	PLCL1	2	198966043	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	19546227	198966043	44233330	12	5348											
COL4A4	1286	broad.mit.edu	37	chr2	227872085	227872085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccggctgattttctggcGttgggcctggctttctttta	3	16	12	10	2	2	1	0	1	2	0	2	1	2	1	2	4	0	4	2	4	1	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr2:227872085G>A	uc021vxr.1	-	46	5130	c.5029C>T	c.(5029-5031)Cgc>Tgc	p.R1677C	COL4A4_uc021vxs.1_Missense_Mutation_p.R1674C	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	1677	Collagen IV NC1.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.R1677C(2)|p.Q1676K(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ATTTTCTGGCGTTGGGCCTGG	0.493													A	227872085	G	A	227872085	3	1	81	1	0	0	0	0	1	0	0	0	3724	1145	40	1	47	1	COL4A4	2	227872085	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	28906042	227872085	15327288	13	5349											
ATP2B2	491	broad.mit.edu	37	chr3	10387792	10387792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacggccaccacctgccGctgctcagtgtgtgtgctgt	4	10	12	15	3	2	0	2	0	0	0	2	0	2	0	4	1	3	3	4	1	0	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:10387792G>A	uc003bvt.3	-	16	2873	c.2434C>T	c.(2434-2436)Cgg>Tgg	p.R812W	ATP2B2_uc003bvv.3_Missense_Mutation_p.R767W|ATP2B2_uc003bvw.3_Missense_Mutation_p.R767W|ATP2B2_uc010hdo.3_Missense_Mutation_p.R517W	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	812					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACCTGCCGCTGCTCAGTG	0.682													A	10387792	G	A	10387792	3	1	81	1	0	0	0	0	1	0	0	0	1145	1086	38	1	1325	1	ATP2B2	3	10387792	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		10387792	187634638	14	5350											
SLC6A20	54716	broad.mit.edu	37	chr3	45814090	45814090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgcaatagggcagtgaCgccgtgaaatacaccacctg	13	5	11	12	3	0	2	0	2	0	0	0	2	0	2	3	1	2	3	3	1	4	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:45814090C>T	uc011bai.2	-	4	724	c.600G>A	c.(598-600)gcG>gcA	p.A200A	SLC6A20_uc003cow.3_5'Flank|SLC6A20_uc011baj.2_Intron	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	200					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGGGCAGTGACGCCGTGAAAT	0.597													T	45814090	C	T	45814090	2	4	81	1	0	0	0	0	0	0	0	1	14778	523	19	1		1	SLC6A20	3	45814090	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	35426298	45814090	152208340	15	5351											
GHSR	2693	broad.mit.edu	37	chr3	172165997	172165997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcagctcgcggaagcgCgacaccaccagcatggtgag	9	4	15	13	5	0	1	0	1	0	0	1	3	0	2	2	2	4	3	2	2	1	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr3:172165997C>T	uc003fib.2	-	0	250	c.207G>A	c.(205-207)tcG>tcA	p.S69S	GHSR_uc011bpv.2_Silent_p.S69S	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	69					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity	p.S69S(3)|p.S69T(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CGCGGAAGCGCGACACCACCA	0.657													T	172165997	C	T	172165997	2	4	81	1	0	0	0	0	0	0	0	1	6431	755	27	1		1	GHSR	3	172165997	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	126351907	172165997	25856433	16	5352											
SULT1B1	27284	broad.mit.edu	37	chr4	70599914	70599914	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaccaggaaaaggctgtaaAttattcattaagtcaaaatg	17	11	8	5	0	2	0	2	0	0	0	2	1	2	1	1	2	1	3	1	2	9	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:70599914A>G	uc003hen.3	-	4	742	c.444T>C	c.(442-444)aaT>aaC	p.N148N		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	148					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGGCTGTAAATTATTCATTA	0.353													G	70599914	A	G	70599914	2	3	81	1	0	0	0	0	0	0	0	1	15472	98	4	3		3	SULT1B1	4	70599914	Silent	SNP	A	TCGA-06-2564-01A-01D-1494-08		70599914	120554362	17	5353											
SEPT11	55752	broad.mit.edu	37	chr4	77949846	77949846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcagaagaaagaagaaGaaatgagacaaatgtttgtt	20	8	10	3	0	0	6	0	1	0	6	0	7	0	6	0	0	2	3	0	0	7	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:77949846G>A	uc011cca.2	+	9	1400	c.1048G>A	c.(1048-1050)Gaa>Aaa	p.E350K	SEPT11_uc010ijh.1_Missense_Mutation_p.E332K|SEPT11_uc003hkj.3_Missense_Mutation_p.E340K			Q9NVA2	SEP11_HUMAN	Homo sapiens septin 11 (SEPT11), mRNA.	340					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GAAAGAAGAAGAAATGAGACA	0.403													A	77949846	G	A	77949846	3	1	81	1	0	0	0	0	1	0	0	0	14154	943	33	2	1048	2	SEPT11	4	77949846	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	7349932	77949846	113204430	18	5354											
FAT1	2195	broad.mit.edu	37	chr4	187541182	187541183	+	Frame_Shift_Ins	INS	-	-	A																															ctgcaatctctgcactgtagINSaaaggtttttcaaacacagg																										TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr4:187541182_187541183insA	uc003izf.3	-	9	6745_6746	c.6557_6558insT	c.(6556-6558)ttcfs	p.F2186fs		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2186	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTGCACTGTAGAAAGGTTTTTC	0.51										HNSCC(5;0.00058)			A	187541183	-	A	187541182	7	5	81	1	0	1	1	0	0	0	0	0	5738	933	33	0	7280	0	FAT1	4	187541182	Frame_Shift_Ins	INS	-	TCGA-06-2564-01A-01D-1494-08	109591336	187541182	3613094	19	5355											
FSTL4	23105	broad.mit.edu	37	chr5	132652162	132652162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcccacctgagccagttCggagctgctgaggtggccat	7	8	14	12	1	0	2	0	2	0	0	1	4	0	3	4	3	4	3	4	3	0	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:132652162C>T	uc003kyn.1	-	4	810	c.592G>A	c.(592-594)Gaa>Aaa	p.E198K		NM_015082	NP_055897	Q6MZW2	FSTL4_HUMAN	Homo sapiens follistatin-like 4 (FSTL4), mRNA.	198	EF-hand.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGAGCCAGTTCGGAGCTGCTG	0.557													T	132652162	C	T	132652162	3	4	81	1	0	0	0	0	1	0	0	0	6131	893	31	1	1984	1	FSTL4	5	132652162	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		132652162	48263098	20	5356											
NPM1	4869	broad.mit.edu	37	chr5	170819769	170819769	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggaggatgtgaaactcttAagtatatctggaaagcggtc	13	10	13	5	1	2	1	0	1	2	0	3	5	2	4	0	4	2	1	0	4	5	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr5:170819769A>C	uc003mbi.3	+	4	653	c.408A>C	c.(406-408)ttA>ttC	p.L136F	NPM1_uc003mbh.3_Missense_Mutation_p.L136F|NPM1_uc003mbj.3_Missense_Mutation_p.L136F	NM_002520	NP_002511	P06748	NPM_HUMAN	Homo sapiens nucleophosmin (nucleolar phosphoprotein B23, numatrin) (NPM1), transcript variant 1, mRNA.	136	Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAAACTCTTAAGTATATCTG	0.388			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								C	170819769	A	C	170819769	3	2	81	1	0	0	0	0	1	0	0	0	10663	359	13	5	426	5	NPM1	5	170819769	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	38167607	170819769	10095491	21	5357											
NUP153	9972	broad.mit.edu	37	chr6	17629357	17629357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttaataacacctgtacCaaagctaaaacctgcagagg	16	7	9	9	0	0	1	0	0	0	1	0	2	0	2	3	2	5	4	3	2	6	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:17629357C>T	uc003ncd.1	-	17	3273	c.3073G>A	c.(3073-3075)Ggt>Agt	p.G1025S	NUP153_uc011dje.1_Missense_Mutation_p.G1056S|NUP153_uc010jpl.1_Missense_Mutation_p.G983S	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1025					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			ACACCTGTACCAAAGCTAAAA	0.443													T	17629357	C	T	17629357	3	4	81	1	0	0	0	0	1	0	0	0	10831	594	21	2	1374	2	NUP153	6	17629357	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		17629357	153485710	22	5358											
SLC26A8	116369	broad.mit.edu	37	chr6	35923059	35923059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctcccctggctttccGccacatcaggcagtcctggt	5	11	8	17	1	2	0	1	0	1	0	6	0	5	0	6	3	0	2	6	3	0	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:35923059G>A	uc003olm.3	-	16	2213	c.2102C>T	c.(2101-2103)gCg>gTg	p.A701V	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.A283V|SLC26A8_uc003oll.3_Missense_Mutation_p.A596V|SLC26A8_uc003oln.3_Missense_Mutation_p.A701V	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	701	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTGGCTTTCCGCCACATCAGG	0.502													A	35923059	G	A	35923059	3	1	81	1	0	0	0	0	1	0	0	0	14617	1087	38	1	826	1	SLC26A8	6	35923059	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	18293702	35923059	135192008	23	5359											
FRK	2444	broad.mit.edu	37	chr6	116263659	116263659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacgcagtgtctcaaatGtaggtcgttccttaggctct	8	13	9	11	2	2	0	1	0	2	0	6	0	4	0	2	2	1	4	2	2	4	3	rs142072444		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr6:116263659G>A	uc003pwi.1	-	7	1883	c.1436C>T	c.(1435-1437)aCa>aTa	p.T479I		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	479	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TGTCTCAAATGTAGGTCGTTC	0.398													A	116263659	G	A	116263659	3	1	81	1	0	0	0	0	1	0	0	0	6100	1377	48	2	85	2	FRK	6	116263659	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	80340600	116263659	54851408	24	5360											
DFNA5	1687	broad.mit.edu	37	chr7	24742379	24742379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgggaggttgcttacCaagtggcacagtgtgggaat	9	9	14	9	0	0	0	0	0	0	0	0	2	0	2	3	4	2	3	3	4	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:24742379C>T	uc010kus.1	-	9	1345	c.1257_splice	c.e9+1	p.L419_splice	DFNA5_uc003sxa.1_Splice_Site_p.L419_splice|DFNA5_uc010kut.1_Splice_Site_p.L255_splice	NM_001127453	NP_001120926	O60443	DFNA5_HUMAN	Homo sapiens deafness, autosomal dominant 5 (DFNA5), transcript variant 2, mRNA.	419					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						GGTTGCTTACCAAGTGGCACA	0.512													T	24742379	C	T	24742379	2	4	81	1	0	0	0	0	0	0	0	1	4493	608	21	2		2	DFNA5	7	24742379	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		24742379	134396284	25	5361											
TNS3	64759	broad.mit.edu	37	chr7	47440469	47440469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcaggcggaaaatgaCgtcacgggtggccgagcggt	11	5	16	9	5	1	1	1	1	0	0	1	3	1	2	1	5	3	1	1	5	3	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:47440469C>T	uc003tnw.3	-	13	1124	c.766G>A	c.(766-768)Gtc>Atc	p.V256I	TNS3_uc010kyo.1_3'UTR	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	256	C2 tensin-type.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGGAAAATGACGTCACGGGTG	0.567													T	47440469	C	T	47440469	3	4	81	1	0	0	0	0	1	0	0	0	16444	536	19	1	3643	1	TNS3	7	47440469	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	22698090	47440469	111698194	26	5362											
TFPI2	7980	broad.mit.edu	37	chr7	93516148	93516148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttaaaattgcttcttcCgaattttccggattctactg	9	18	6	8	2	2	0	0	0	2	0	4	2	4	1	2	1	2	2	2	1	4	9	rs12669450		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:93516148C>T	uc003umy.1	-	4	767	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_3'UTR|TFPI2_uc003una.1_Missense_Mutation_p.R220Q	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	231			R -> Q (in dbSNP:rs12669450).		blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TTGCTTCTTCCGAATTTTCCG	0.328													T	93516148	C	T	93516148	3	4	81	1	0	0	0	0	1	0	0	0	15909	652	23	1	19	1	TFPI2	7	93516148	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	46075679	93516148	65622515	27	5363											
NRF1	4899	broad.mit.edu	37	chr7	129357140	129357140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggccacccaggcggtgGcatcgttggcagaggccgca	8	4	16	13	3	0	2	0	0	0	2	1	2	0	2	3	6	0	4	3	6	0	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129357140G>A	uc003vpa.3	+	8	1267	c.1147G>A	c.(1147-1149)Gca>Aca	p.A383T	NRF1_uc003voz.3_Missense_Mutation_p.A383T|NRF1_uc011kpa.2_Missense_Mutation_p.A222T|NRF1_uc003vpb.3_Missense_Mutation_p.A383T	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	383	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CCAGGCGGTGGCATCGTTGGC	0.567													A	129357140	G	A	129357140	3	1	81	1	0	0	0	0	1	0	0	0	10722	1203	42	2	1177	2	NRF1	7	129357140	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	35840992	129357140	29781523	28	5364											
ZC3HC1	51530	broad.mit.edu	37	chr7	129662254	129662254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgctggggcgctggcatCtggttcagttccaccattct	4	13	11	13	1	4	0	1	0	3	0	5	0	5	0	2	4	1	5	2	4	0	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:129662254C>T	uc003vpi.3	-	8	1372	c.1345G>A	c.(1345-1347)Gat>Aat	p.D449N	ZC3HC1_uc010lma.3_Missense_Mutation_p.D265N	NM_016478	NP_057562	Q86WB0	NIPA_HUMAN	Homo sapiens zinc finger, C3HC-type containing 1 (ZC3HC1), mRNA.	449					cell division|mitosis	nucleus	protein kinase binding|zinc ion binding			endometrium(2)|kidney(6)|large_intestine(10)|lung(2)|prostate(1)|urinary_tract(1)	22	Melanoma(18;0.0435)					GCGCTGGCATCTGGTTCAGTT	0.552													T	129662254	C	T	129662254	3	4	81	1	0	0	0	0	1	0	0	0	17678	913	32	2	171	2	ZC3HC1	7	129662254	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	305114	129662254	29476409	29	5365											
ABCF2	10061	broad.mit.edu	37	chr7	150921937	150921937	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtcactgagcagctcttGaccatgaaaggtaagtgaga	12	9	13	7	0	2	4	1	4	1	1	2	5	2	4	1	2	2	3	1	2	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr7:150921937G>A	uc003wjo.1	-	2	403	c.292C>T	c.(292-294)Caa>Taa	p.Q98*	ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q98*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	98	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGCAGCTCTTGACCATGAAAG	0.507													A	150921937	G	A	150921937	4	1	81	1	0	0	0	0	0	1	0	0	66	1299	45	2	1672	2	ABCF2	7	150921937	Nonsense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	21259683	150921937	8216726	30	5366											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732412	37732412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtggcctctgagtttgCgggggccatgttttccctga	3	16	13	9	1	1	2	0	2	1	0	2	2	2	2	3	3	1	2	3	3	0	5	rs140686896		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:37732412C>T	uc003xkm.2	-	2	1299	c.1243G>A	c.(1243-1245)Gca>Aca	p.A415T	RAB11FIP1_uc003xkn.2_Missense_Mutation_p.A415T|RAB11FIP1_uc003xkl.2_5'Flank|RAB11FIP1_uc003xko.1_5'Flank|RAB11FIP1_uc003xkp.1_Missense_Mutation_p.A263T	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	415					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TCTGAGTTTGCGGGGGCCATG	0.557													T	37732412	C	T	37732412	3	4	81	1	0	0	0	0	1	0	0	0	12981	768	27	1	2624	1	RAB11FIP1	8	37732412	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		37732412	108631610	31	5367											
IMPAD1	54928	broad.mit.edu	37	chr8	57878872	57878872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctcattgtaggaagagCgggctttcacatttgaacca	10	13	9	9	1	3	2	2	1	2	1	4	3	3	3	1	2	2	2	1	2	3	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:57878872C>T	uc003xte.4	-	3	972	c.686G>A	c.(685-687)cGc>cAc	p.R229H		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	229						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTAGGAAGAGCGGGCTTTCAC	0.423													T	57878872	C	T	57878872	3	4	81	1	0	0	0	0	1	0	0	0	7783	768	27	1	401	1	IMPAD1	8	57878872	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	20146460	57878872	88485150	32	5368											
MTDH	92140	broad.mit.edu	37	chr8	98735243	98735243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtcaaataccaagcaaaAtagtgtgcctccttcacaga	16	8	6	11	0	2	1	2	0	0	1	3	1	3	1	3	0	3	1	3	0	7	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:98735243A>G	uc003yhz.3	+	10	1986	c.1658A>G	c.(1657-1659)aAt>aGt	p.N553S	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	553					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.N553N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCAAGCAAAATAGTGTGCCT	0.363													G	98735243	A	G	98735243	3	3	81	1	0	0	0	0	1	0	0	0	9993	101	4	3	1700	3	MTDH	8	98735243	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	40856371	98735243	47628779	33	5369											
VPS13B	157680	broad.mit.edu	37	chr8	100732741	100732741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtgaacaaagttcagatGacctacggacaggtctattt	15	10	9	7	1	2	3	1	2	1	1	2	4	2	4	1	2	2	1	1	2	5	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr8:100732741G>A	uc003yiv.3	+	37	7012	c.6901G>A	c.(6901-6903)Gac>Aac	p.D2301N	VPS13B_uc003yiw.3_Missense_Mutation_p.D2276N	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2301					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AAGTTCAGATGACCTACGGAC	0.403													A	100732741	G	A	100732741	3	1	81	1	0	0	0	0	1	0	0	0	17292	1290	45	2	7241	2	VPS13B	8	100732741	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	1997498	100732741	45631281	34	5370											
FBP2	8789	broad.mit.edu	37	chr9	97333780	97333780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccacgccttgccctgtGgagagagccaccagggttgc	7	7	14	13	1	0	1	0	0	0	1	1	3	1	2	5	3	3	1	5	3	0	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:97333780G>A	uc004auv.3	-	3	598	c.531C>T	c.(529-531)tcC>tcT	p.S177S		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	177					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding	p.L176F(1)		endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CTTGCCCTGTGGAGAGAGCCA	0.567													A	97333780	G	A	97333780	2	1	81	1	0	0	0	0	0	0	0	1	5755	1335	47	2		2	FBP2	9	97333780	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08		97333780	43879651	35	5371											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900147	112900147	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaaggcgtctccaagtcaTttagtgatcatggtttctat	10	14	10	7	1	4	2	2	1	2	1	5	3	4	2	1	2	0	1	1	2	4	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:112900147T>A	uc004bei.2	+	8	3211	c.3019T>A	c.(3019-3021)Ttt>Att	p.F1007I	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.F775I|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.F585I|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.F633I|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.F633I|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.F593I|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.F544I|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.F544I	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	544							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTCCAAGTCATTTAGTGATCA	0.542													A	112900147	T	A	112900147	3	1	81	1	0	0	0	0	1	0	0	0	11486	1493	52	5	2353	5	PALM2-AKAP2	9	112900147	Missense_Mutation	SNP	T	TCGA-06-2564-01A-01D-1494-08	15566367	112900147	28313284	36	5372											
SVEP1	79987	broad.mit.edu	37	chr9	113189912	113189912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgttcctgaaagtgaaGttattccccgtaatgacagc	11	11	10	9	2	0	3	0	3	0	0	2	3	2	3	3	1	1	3	3	1	4	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:113189912G>T	uc010mtz.3	-	35	6271	c.5934C>A	c.(5932-5934)aaC>aaA	p.N1978K	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1978	Sushi 10.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGAAAGTGAAGTTATTCCCCG	0.527											OREG0019389	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	113189912	G	T	113189912	3	4	81	1	0	0	0	0	1	0	0	0	15516	1020	36	4	4833	4	SVEP1	9	113189912	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	289765	113189912	28023519	37	5373											
ZNF883	169834	broad.mit.edu	37	chr9	115759611	115759611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtatgcgtcctctgatgtCgaattagtgatgttctatag	8	16	10	7	2	2	2	0	2	2	0	4	3	3	2	1	0	1	2	1	0	5	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:115759611C>T	uc011lwy.2	-	4	2168	c.929G>A	c.(928-930)cGa>cAa	p.R310Q		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CCTCTGATGTCGAATTAGTGA	0.373													T	115759611	C	T	115759611	3	4	81	1	0	0	0	0	1	0	0	0	18297	884	31	1	212	1	ZNF883	9	115759611	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	2569699	115759611	25453820	38	5374											
NR5A1	2516	broad.mit.edu	37	chr9	127262849	127262849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggtgcgggagggggcggCgggggcacccccatcggggg	3	3	23	12	5	0	0	0	0	0	0	2	1	1	1	3	9	1	1	3	9	0	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr9:127262849C>T	uc004boo.1	-	3	577	c.390G>A	c.(388-390)ccG>ccA	p.P130P	NR5A1_uc022bnh.1_Silent_p.P130P	NM_004959	NP_004950	Q13285	STF1_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 1 (NR5A1), mRNA.	130					cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GAGGGGGCGGCGGGGGCACCC	0.697													T	127262849	C	T	127262849	2	4	81	1	0	0	0	0	0	0	0	1	10711	755	27	1		1	NR5A1	9	127262849	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	11503238	127262849	13950582	39	5375											
PRRG4	79056	broad.mit.edu	37	chr11	32875008	32875008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtgtttcaccaccaccaCcatatcctgggcacacaaaa	14	7	5	15	0	1	0	1	0	0	0	2	0	2	0	5	1	0	2	5	1	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:32875008C>T	uc001mtx.3	+	5	877	c.616C>T	c.(616-618)Cca>Tca	p.P206S		NM_024081	NP_076986	Q9BZD6	TMG4_HUMAN	Homo sapiens proline rich Gla (G-carboxyglutamic acid) 4 (transmembrane) (PRRG4), mRNA.	206	Poly-Pro.					extracellular region|Golgi apparatus|integral to membrane	calcium ion binding			large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	7	Breast(20;0.206)					ACCACCACCACCATATCCTGG	0.438													T	32875008	C	T	32875008	3	4	81	1	0	0	0	0	1	0	0	0	12693	507	18	2	634	2	PRRG4	11	32875008	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		32875008	102131508	40	5376											
TRIM49	57093	broad.mit.edu	37	chr11	89531694	89531694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacttctaggtgttgcagtGaaatagggtacatcttgatg	12	13	11	5	0	2	2	0	2	2	0	2	2	2	2	0	2	3	3	0	2	5	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr11:89531694G>A	uc001pdb.3	-	7	1292	c.963C>T	c.(961-963)ttC>ttT	p.F321F		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	321	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				GTGTTGCAGTGAAATAGGGTA	0.418													A	89531694	G	A	89531694	2	1	81	1	0	0	0	0	0	0	0	1	16625	1281	45	2		2	TRIM49	11	89531694	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	56656686	89531694	45474822	41	5377											
ENO2	2026	broad.mit.edu	37	chr12	7026819	7026819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcagctgagcgggaactgCccctgtatcgccacattgct	7	8	13	13	2	0	1	0	1	0	0	1	2	0	2	3	2	5	4	3	2	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:7026819C>G	uc001qru.1	+	5	607	c.385C>G	c.(385-387)Ccc>Gcc	p.P129A	ENO2_uc009zfi.1_Missense_Mutation_p.P129A|ENO2_uc010sfq.1_Missense_Mutation_p.P86A|ENO2_uc001qrv.1_Missense_Mutation_p.P129A	NM_001975	NP_001966	P09104	ENOG_HUMAN	Homo sapiens enolase 2 (gamma, neuronal) (ENO2), mRNA.	129					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCGGGAACTGCCCCTGTATCG	0.617													G	7026819	C	G	7026819	3	3	81	1	0	0	0	0	1	0	0	0	5163	739	26	4	403	4	ENO2	12	7026819	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		7026819	126825076	42	5378											
MLL2	8085	broad.mit.edu	37	chr12	49448322	49448322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcactcacctccaggttctCctaggtgggcaggtgtaagg	7	10	12	12	0	3	0	2	0	1	0	5	0	4	0	3	5	0	3	3	5	2	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:49448322C>T	uc001rta.4	-	2	389	c.389G>A	c.(388-390)gGa>gAa	p.G130E		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	130					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCCAGGTTCTCCTAGGTGGGC	0.557			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	49448322	C	T	49448322	3	4	81	1	0	0	0	0	1	0	0	0	9696	855	30	2	16432	2	MLL2	12	49448322	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	42421503	49448322	84403573	43	5379											
LRRIQ1	84125	broad.mit.edu	37	chr12	85492269	85492269	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttactgatgtagagggCgttgaaaattgtggattgct	10	14	12	5	1	1	3	0	2	1	1	1	4	1	4	0	2	2	3	0	2	4	5			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85492269C>T	uc001tac.3	+	11	3135	c.3024C>T	c.(3022-3024)ggC>ggT	p.G1008G	LRRIQ1_uc021rbo.1_Silent_p.G886G	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1008										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATGTAGAGGGCGTTGAAAATT	0.343													T	85492269	C	T	85492269	2	4	81	1	0	0	0	0	0	0	0	1	9099	755	27	1		1	LRRIQ1	12	85492269	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	36043947	85492269	48359626	44	5380											
LRRIQ1	84125	broad.mit.edu	37	chr12	85546073	85546073	+	Frame_Shift_Del	DEL	G	G	-																															tgcaggctgccttagaagaaGaatggctagcattagattcc																										TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:85546073delG	uc001tac.3	+	19	4456	c.4345delG	c.(4345-4347)gaafs	p.E1449fs		NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	1449										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTAGAAGAAGAATGGCTAGC	0.353													-	85546073	G	-	85546073	7	5	81	1	0	1	0	1	0	0	0	0	9099	943	33	0	4423	0	LRRIQ1	12	85546073	Frame_Shift_Del	DEL	G	TCGA-06-2564-01A-01D-1494-08	53804	85546073	48305822	45	5381											
ZNF10	7556	broad.mit.edu	37	chr12	133732279	133732279	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagagagacatttgaggcaAgtggcattcacccaaaagaa	16	6	10	9	0	1	4	1	1	0	3	1	5	1	4	2	2	0	2	2	2	4	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732279A>G	uc009zzb.3	+	4	894	c.447A>G	c.(445-447)caA>caG	p.Q149Q	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Silent_p.Q149Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	149				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ATTTGAGGCAAGTGGCATTCA	0.428													G	133732279	A	G	133732279	2	3	81	1	0	0	0	0	0	0	0	1	17813	69	3	3		3	ZNF10	12	133732279	Silent	SNP	A	TCGA-06-2564-01A-01D-1494-08	48186206	133732279	119616	46	5382			1	17		3	3	182	N	T_A	9.558872e-08
ZNF10	7556	broad.mit.edu	37	chr12	133732444	133732444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttagttcttaatggtcaTcaggacagttgtgcaagtaa	12	14	10	5	0	3	0	2	0	1	0	3	2	3	1	0	2	1	4	0	2	4	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732444T>A	uc009zzb.3	+	4	1059	c.612T>A	c.(610-612)caT>caA	p.H204Q	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.H204Q	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	204				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.G203G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TTAATGGTCATCAGGACAGTT	0.363													A	133732444	T	A	133732444	3	1	81	1	0	0	0	0	1	0	0	0	17813	1432	50	5	626	5	ZNF10	12	133732444	Missense_Mutation	SNP	T	TCGA-06-2564-01A-01D-1494-08	165	133732444	119451	47	5383			1	17		3	3	182	N	T_A	9.558872e-08
ZNF10	7556	broad.mit.edu	37	chr12	133732460	133732460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatcaggacagttgtgcaAgtaacagtaatgaatgtggt	13	11	12	5	0	2	1	2	1	0	0	2	2	2	2	0	2	2	4	0	2	4	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr12:133732460A>G	uc009zzb.3	+	4	1075	c.628A>G	c.(628-630)Agt>Ggt	p.S210G	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.S210G	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	210				Missing (in Ref. 1).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CAGTTGTGCAAGTAACAGTAA	0.358													G	133732460	A	G	133732460	3	3	81	1	0	0	0	0	1	0	0	0	17813	72	3	3	642	3	ZNF10	12	133732460	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	16	133732460	119435	48	5384			1	17		3	3	182	N	T_A	9.558872e-08
POTEG	404785	broad.mit.edu	37	chr14	19553826	19553826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgaggtaccacgtccgtcGagaagatctggacaagctcc	10	6	12	13	4	1	2	0	0	1	2	4	5	3	3	4	2	2	2	4	2	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19553826G>A	uc001vuz.1	+	0	462	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	137								p.R136H(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CACGTCCGTCGAGAAGATCTG	0.577													A	19553826	G	A	19553826	3	1	81	1	0	0	0	0	1	0	0	0	12343	1058	37	1	412	1	POTEG	14	19553826	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		19553826	87795714	49	5385											
POTEG	404785	broad.mit.edu	37	chr14	19566060	19566060	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaaaaacagatgctaaaagtCtcttctgaaaacagcaatcc	18	8	6	9	0	2	2	0	1	2	1	4	3	3	2	1	0	4	2	1	0	7	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:19566060C>G	uc001vuz.1	+	5	1156	c.1104C>G	c.(1102-1104)gtC>gtG	p.V368V	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	368								p.V368F(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGCTAAAAGTCTCTTCTGAAA	0.323													G	19566060	C	G	19566060	2	3	81	1	0	0	0	0	0	0	0	1	12343	900	32	4		4	POTEG	14	19566060	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	12234	19566060	87783480	50	5386											
ADCY4	196883	broad.mit.edu	37	chr14	24801072	24801072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaacgtggcccgcagggcGcgctccatcagcgccttgtg	5	6	15	15	6	1	0	1	0	0	0	2	1	2	1	3	3	2	2	3	3	1	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:24801072G>A	uc001wow.3	-	3	1010	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ADCY4_uc010toh.2_5'UTR|ADCY4_uc001wox.3_Silent_p.R197R|ADCY4_uc001woy.3_Silent_p.R197R	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	197					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCCGCAGGGCGCGCTCCATCA	0.667													A	24801072	G	A	24801072	2	1	81	1	0	0	0	0	0	0	0	1	296	1074	38	1		1	ADCY4	14	24801072	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	5235012	24801072	82548468	51	5387											
SYT16	83851	broad.mit.edu	37	chr14	62547865	62547865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtgctgtccgcttccGcctgtacgctgcccggaaga	4	10	12	15	4	0	1	0	0	0	1	2	2	2	2	5	1	4	4	5	1	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr14:62547865G>A	uc001xfu.1	+	3	1504	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	436	C2 1.							p.R416H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GTCCGCTTCCGCCTGTACGCT	0.562													A	62547865	G	A	62547865	3	1	81	1	0	0	0	0	1	0	0	0	15569	1087	38	1	1321	1	SYT16	14	62547865	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	37746793	62547865	44801675	52	5388											
C15orf48	84419	broad.mit.edu	37	chr15	45723253	45723253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggtggagcctcatctttcGctgtgtattctctttggaaa	6	15	11	9	2	3	0	1	0	2	0	5	2	3	2	1	3	1	2	1	3	2	4	rs143173357		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:45723253G>A	uc001zvg.3	+	2	209	c.91G>A	c.(91-93)Gct>Act	p.A31T	C15orf48_uc001zvh.3_Missense_Mutation_p.A31T|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	31						nucleus		p.A31P(2)		large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		CTCATCTTTCGCTGTGTATTC	0.413													A	45723253	G	A	45723253	3	1	81	1	0	0	0	0	1	0	0	0	1812	1087	38	1	97	1	C15orf48	15	45723253	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		45723253	56808139	53	5389											
CCDC33	80125	broad.mit.edu	37	chr15	74564064	74564064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttctccggggagtcaaCgagcccctggccaacaaccc	9	7	9	16	2	3	0	1	0	2	0	4	2	3	1	5	3	4	0	5	3	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74564064C>T	uc002axo.3	+	5	961	c.567C>T	c.(565-567)aaC>aaT	p.N189N	CCDC33_uc002axp.3_Silent_p.N11N	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	392							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGGGAGTCAACGAGCCCCTGG	0.592													T	74564064	C	T	74564064	2	4	81	1	0	0	0	0	0	0	0	1	2833	535	19	1		1	CCDC33	15	74564064	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08	28840811	74564064	27967328	54	5390											
CCDC33	80125	broad.mit.edu	37	chr15	74573074	74573074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttgccgctaaagagcCgtttgtaccagaagatgctg	9	11	12	9	2	0	3	0	0	0	3	0	3	0	3	3	0	4	5	3	0	4	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr15:74573074C>T	uc002axo.3	+	8	1349	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	CCDC33_uc002axp.3_Missense_Mutation_p.R141C	NM_025055	NP_079331	Q8N5R6	CCD33_HUMAN	Homo sapiens coiled-coil domain containing 33 (CCDC33), transcript variant 1, mRNA.	522	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCTAAAGAGCCGTTTGTACCA	0.612													T	74573074	C	T	74573074	3	4	81	1	0	0	0	0	1	0	0	0	2833	652	23	1	989	1	CCDC33	15	74573074	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	9010	74573074	27958318	55	5391											
ITGAX	3687	broad.mit.edu	37	chr16	31374348	31374348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggggccccccattactaCgagcagacccgagggggcca	9	4	13	15	3	0	1	0	0	0	1	1	3	0	1	5	4	3	1	5	4	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:31374348C>T	uc002ebt.3	+	12	1519	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_uc002ebu.1_Silent_p.Y484Y|ITGAX_uc010vfk.1_Silent_p.Y134Y	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	484					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													T	31374348	C	T	31374348	2	4	81	1	0	0	0	0	0	0	0	1	7947	547	19	1		1	ITGAX	16	31374348	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		31374348	58980405	56	5392											
MYLK3	91807	broad.mit.edu	37	chr16	46755087	46755087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtcctgtctgattgaCgcacaatatgttctccggct	7	15	9	10	2	2	3	0	3	2	0	4	3	3	3	2	1	0	3	2	1	2	4			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr16:46755087C>T	uc002eei.4	-	8	2049	c.1933G>A	c.(1933-1935)Gtc>Atc	p.V645I	MYLK3_uc010vge.2_Missense_Mutation_p.V304I	NM_182493	NP_872299	Q32MK0	MYLK3_HUMAN	Homo sapiens myosin light chain kinase 3 (MYLK3), mRNA.	645	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity	p.V724I(1)|p.V645I(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GTCTGATTGACGCACAATATG	0.448													T	46755087	C	T	46755087	3	4	81	1	0	0	0	0	1	0	0	0	10134	536	19	1	546	1	MYLK3	16	46755087	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	15380739	46755087	43599666	57	5393											
SLC2A4	6517	broad.mit.edu	37	chr17	7187697	7187697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgaggggcctgccagaaaGagtaagctctcccgctgcag	9	6	13	13	2	1	2	0	0	1	2	3	3	1	2	3	2	3	4	3	2	2	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:7187697G>A	uc002gfp.3	+	6	927	c.727_splice	c.e6+1	p.S243_splice	SLC2A4_uc010cmd.3_Splice_Site|SLC2A4_uc021tpa.1_Splice_Site_p.S233_splice	NM_001042	NP_001033	P14672	GTR4_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 4 (SLC2A4), mRNA.	243					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						CTGCCAGAAAGAGTAAGCTCT	0.632													A	7187697	G	A	7187697	2	1	81	1	0	0	0	0	0	0	0	1	14640	956	33	2		2	SLC2A4	17	7187697	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08		7187697	74007513	58	5394											
MYOCD	93649	broad.mit.edu	37	chr17	12666835	12666835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggctggacctcactccGccaaattccacaccaggctt	9	8	9	15	1	1	0	1	0	0	0	3	2	3	1	5	3	0	2	5	3	1	2	rs149918258		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:12666835G>A	uc002gno.2	+	13	3134	c.2835G>A	c.(2833-2835)ccG>ccA	p.P945P	MYOCD_uc002gnn.2_Silent_p.P897P|MYOCD_uc002gnq.2_Silent_p.P621P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	897					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCTCACTCCGCCAAATTCCA	0.512													A	12666835	G	A	12666835	2	1	81	1	0	0	0	0	0	0	0	1	10163	1074	38	1		1	MYOCD	17	12666835	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	5479138	12666835	68528375	59	5395											
RHBDF2	79651	broad.mit.edu	37	chr17	74473065	74473065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttggaggcgatgcgcttgCcgcgccggggcccggggact	3	6	18	14	6	0	0	0	0	0	0	0	3	0	2	4	6	2	1	4	6	0	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr17:74473065C>T	uc002jrq.2	-	8	1343	c.1049G>A	c.(1048-1050)gGc>gAc	p.G350D	RHBDF2_uc021udh.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrr.1_Missense_Mutation_p.G202D|RHBDF2_uc010wtf.1_Missense_Mutation_p.G321D|RHBDF2_uc002jrs.1_Missense_Mutation_p.G345D	NM_024599	NP_078875	Q6PJF5	RHDF2_HUMAN	Homo sapiens rhomboid 5 homolog 2 (Drosophila) (RHBDF2), transcript variant 1, mRNA.	350					negative regulation of protein secretion|protein transport|proteolysis	endoplasmic reticulum membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(4)|skin(1)	27						GATGCGCTTGCCGCGCCGGGG	0.647													T	74473065	C	T	74473065	3	4	81	1	0	0	0	0	1	0	0	0	13409	739	26	2	1565	2	RHBDF2	17	74473065	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	61806230	74473065	6722145	60	5396											
POLI	11201	broad.mit.edu	37	chr18	51809324	51809324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaatttcagttgctcagcGtatccaaaagctcagttttg	11	13	9	8	1	3	0	3	0	0	0	4	1	4	1	1	1	3	5	1	1	4	5	rs146107490		TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr18:51809324G>A	uc002lfj.4	+	5	982	c.914G>A	c.(913-915)cGt>cAt	p.R305H	POLI_uc010xds.2_Missense_Mutation_p.R226H|POLI_uc002lfk.4_Missense_Mutation_p.R202H|POLI_uc002lfl.1_Missense_Mutation_p.R237H|POLI_uc010dpg.3_5'UTR	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	305					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GTTGCTCAGCGTATCCAAAAG	0.393								DNA polymerases (catalytic subunits)					A	51809324	G	A	51809324	3	1	81	1	0	0	0	0	1	0	0	0	12280	1145	40	1	936	1	POLI	18	51809324	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		51809324	26267924	61	5397											
ZNF77	58492	broad.mit.edu	37	chr19	2933838	2933838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggcttctctccagtatgCgtcctcacgtggattcgaag	8	11	11	11	3	2	0	1	0	1	0	6	2	4	1	2	2	1	2	2	2	3	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:2933838C>T	uc002lws.4	-	3	1418	c.1287G>A	c.(1285-1287)acG>acA	p.T429T		NM_021217	NP_067040	Q15935	ZNF77_HUMAN	Homo sapiens zinc finger protein 77 (ZNF77), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGTATGCGTCCTCACGT	0.512													T	2933838	C	T	2933838	2	4	81	1	0	0	0	0	0	0	0	1	18242	755	27	1		1	ZNF77	19	2933838	Silent	SNP	C	TCGA-06-2564-01A-01D-1494-08		2933838	56195145	62	5398											
TJP3	27134	broad.mit.edu	37	chr19	3735631	3735631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcggaaccagatgagcaaCggtcaggtgggtggtgactc	9	8	15	9	2	2	3	1	2	1	1	4	4	2	4	1	5	3	1	1	5	2	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:3735631C>T	uc010xhv.2	+	7	1153	c.1153C>T	c.(1153-1155)Cgg>Tgg	p.R385W	TJP3_uc010xhs.2_Missense_Mutation_p.R352W|TJP3_uc010xht.2_Missense_Mutation_p.R316W|TJP3_uc010xhu.2_Missense_Mutation_p.R361W|TJP3_uc010xhw.2_Missense_Mutation_p.R371W	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	366						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGAGCAACGGTCAGGTGG	0.602													T	3735631	C	T	3735631	3	4	81	1	0	0	0	0	1	0	0	0	16031	527	19	1	1183	1	TJP3	19	3735631	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	801793	3735631	55393352	63	5399											
SH2D3A	10045	broad.mit.edu	37	chr19	6760704	6760704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctcgctaaagctgcGtcgcagaggcccctgccaag	7	7	13	14	3	0	1	0	0	0	1	3	1	1	1	4	2	3	3	4	2	3	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:6760704G>A	uc002mft.3	-	2	558	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	SH2D3A_uc010xjg.2_Intron	NM_005490	NP_005481	Q9BRG2	SH23A_HUMAN	Homo sapiens SH2 domain containing 3A (SH2D3A), mRNA.	122					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTAAAGCTGCGTCGCAGAGGC	0.612													A	6760704	G	A	6760704	3	1	81	1	0	0	0	0	1	0	0	0	14326	1145	40	1	1398	1	SH2D3A	19	6760704	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	3025073	6760704	52368279	64	5400											
FBN3	84467	broad.mit.edu	37	chr19	8154483	8154483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagggacactcacagcGgaaggatccatcggtgttga	12	6	13	10	2	1	1	1	1	0	0	3	4	2	4	2	4	1	1	2	4	2	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:8154483G>A	uc002mjf.3	-	49	6339	c.6322C>T	c.(6322-6324)Cgc>Tgc	p.R2108C	FBN3_uc002mje.3_5'UTR	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2108	EGF-like 33; 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						CACTCACAGCGGAAGGATCCA	0.607													A	8154483	G	A	8154483	3	1	81	1	0	0	0	0	1	0	0	0	5753	1116	39	1	2163	1	FBN3	19	8154483	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08	1393779	8154483	50974500	65	5401											
DDX49	54555	broad.mit.edu	37	chr19	19030579	19030579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcgcggagctcgggctgtCatcgtggctcgtggaacaat	6	10	14	11	5	1	0	1	0	0	0	5	2	1	2	0	4	2	3	0	4	2	1			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:19030579C>T	uc002nkq.2	+	0	96	c.29C>T	c.(28-30)tCa>tTa	p.S10L	COPE_uc002nkl.3_5'Flank|COPE_uc002nkk.3_5'Flank|COPE_uc002nkm.3_5'Flank|HOMER3_uc002nkp.1_Intron|HOMER3_uc002nko.1_Intron|DDX49_uc002nks.2_5'UTR|DDX49_uc002nkr.2_Non-coding_Transcript|DDX49_uc002nkt.1_5'Flank	NM_019070	NP_061943	Q9Y6V7	DDX49_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 49 (DDX49), transcript variant 1, mRNA.	10							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|endometrium(6)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	18			Epithelial(12;0.0289)			CTCGGGCTGTCATCGTGGCTC	0.677													T	19030579	C	T	19030579	3	4	81	1	0	0	0	0	1	0	0	0	4400	838	29	2	31	2	DDX49	19	19030579	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	10876096	19030579	40098404	66	5402											
TSHZ3	57616	broad.mit.edu	37	chr19	31767726	31767726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactctaggtgactgatGtacgtggaaggagtcctgat	9	12	14	6	1	1	4	0	4	1	0	2	6	2	6	1	3	1	1	1	3	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:31767726G>A	uc002nsy.4	-	1	3038	c.2973C>T	c.(2971-2973)taC>taT	p.Y991Y		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	991					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					GGTGACTGATGTACGTGGAAG	0.488													A	31767726	G	A	31767726	2	1	81	1	0	0	0	0	0	0	0	1	16726	1372	48	2		2	TSHZ3	19	31767726	Silent	SNP	G	TCGA-06-2564-01A-01D-1494-08	12737147	31767726	27361257	67	5403											
VASP	7408	broad.mit.edu	37	chr19	46027874	46027874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgagacccaaccctgcAcgcccagctccagtgattac	9	7	7	18	2	0	2	0	1	0	1	2	3	2	2	5	0	4	2	5	0	2	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr19:46027874A>G	uc002pcg.3	+	10	1345	c.1003A>G	c.(1003-1005)Acg>Gcg	p.T335A	VASP_uc002pci.3_Missense_Mutation_p.T321A	NM_003370	NP_003361	P50552	VASP_HUMAN	Homo sapiens vasodilator-stimulated phosphoprotein (VASP), mRNA.	335	EVH2.				axon guidance|cell junction assembly|T cell receptor signaling pathway	actin cytoskeleton|cytosol|filopodium membrane|focal adhesion|lamellipodium membrane	actin binding|profilin binding|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)	18		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0145)|GBM - Glioblastoma multiforme(486;0.154)		CCAACCCTGCACGCCCAGCTC	0.562													G	46027874	A	G	46027874	3	3	81	1	0	0	0	0	1	0	0	0	17230	159	6	3	1045	3	VASP	19	46027874	Missense_Mutation	SNP	A	TCGA-06-2564-01A-01D-1494-08	14260148	46027874	13101109	68	5404											
CSE1L	1434	broad.mit.edu	37	chr20	47688965	47688965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatttactagttacaaCgggtcaagaggttaaatatg	14	12	10	5	1	1	1	1	0	0	1	1	2	1	2	0	3	3	2	0	3	9	6			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:47688965C>T	uc002xty.3	+	8	1045	c.911C>T	c.(910-912)aCg>aTg	p.T304M	CSE1L_uc010zyg.2_Missense_Mutation_p.T87M|CSE1L_uc010ghx.3_Intron|CSE1L_uc010ghy.3_5'UTR|CSE1L_uc010zyh.2_5'Flank	NM_001316	NP_001307	P55060	XPO2_HUMAN	Homo sapiens CSE1 chromosome segregation 1-like (yeast) (CSE1L), transcript variant 1, mRNA.	304					apoptosis|cell proliferation|intracellular protein transport	cytoplasm|nucleus	importin-alpha export receptor activity			breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	35			BRCA - Breast invasive adenocarcinoma(12;0.000491)|Colorectal(8;0.198)			CTAGTTACAACGGGTCAAGAG	0.383													T	47688965	C	T	47688965	3	4	81	1	0	0	0	0	1	0	0	0	3963	536	19	1	941	1	CSE1L	20	47688965	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08		47688965	15336555	69	5405											
UCKL1	54963	broad.mit.edu	37	chr20	62571796	62571796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagtccatgaggatcaCgtggtcatcgctgatgtcct	7	11	13	10	2	2	2	2	2	0	0	5	3	4	3	2	3	1	2	2	3	0	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr20:62571796C>T	uc010gkn.3	-	12	1420	c.1345G>A	c.(1345-1347)Gtg>Atg	p.V449M	UCKL1_uc011abm.2_Missense_Mutation_p.V434M|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	449					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity	p.H448Q(1)		endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					ATGAGGATCACGTGGTCATCG	0.677													T	62571796	C	T	62571796	3	4	81	1	0	0	0	0	1	0	0	0	17027	536	19	1	313	1	UCKL1	20	62571796	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	14882831	62571796	453724	70	5406											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993777	45993777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcccccagctgctgcGccccggccccctgcctgagc	2	5	12	22	3	0	1	0	1	0	0	0	1	0	1	7	1	6	3	7	1	0	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr21:45993777G>A	uc002zfk.1	+	0	172	c.142G>A	c.(142-144)Gcc>Acc	p.A48T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198687	NP_941960	P60372	KR104_HUMAN	Homo sapiens keratin associated protein 10-4 (KRTAP10-4), mRNA.	48	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CAGCTGCTGCGCCCCGGCCCC	0.701													A	45993777	G	A	45993777	3	1	81	1	0	0	0	0	1	0	0	0	8569	1087	38	1	144	1	KRTAP10-4	21	45993777	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		45993777	2136118	71	5407											
CACNA1I	8911	broad.mit.edu	37	chr22	40080363	40080363	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctgcccatgccagccGagttcttccaccctgcagtg	5	10	8	18	1	2	0	0	0	2	0	4	1	3	0	6	0	4	2	6	0	0	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:40080363G>T	uc003ayc.3	+	35	5887	c.5887G>T	c.(5887-5889)Gag>Tag	p.E1963*	CACNA1I_uc003ayd.3_Nonsense_Mutation_p.E1928*|CACNA1I_uc003aye.3_Nonsense_Mutation_p.E1878*|CACNA1I_uc003ayf.3_Nonsense_Mutation_p.E1843*	NM_021096	NP_066919	Q9P0X4	CAC1I_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1I subunit (CACNA1I), transcript variant 1, mRNA.	1963					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CATGCCAGCCGAGTTCTTCCA	0.637													T	40080363	G	T	40080363	4	4	81	1	0	0	0	0	0	1	0	0	2572	1059	37	4	6029	4	CACNA1I	22	40080363	Nonsense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		40080363	11224203	72	5408											
CSDC2	27254	broad.mit.edu	37	chr22	41969718	41969718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtaagcagttctcacgctCacagggccatggcttcatca	9	10	9	13	1	4	0	4	0	1	0	5	0	4	0	1	2	1	5	1	2	1	3			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chr22:41969718C>T	uc003bak.1	+	2	533	c.236C>T	c.(235-237)tCa>tTa	p.S79L		NM_014460	NP_055275	Q9Y534	CSDC2_HUMAN	Homo sapiens cold shock domain containing C2, RNA binding (CSDC2), mRNA.	79	CSD.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|RNA binding			prostate(2)|upper_aerodigestive_tract(1)	3						TTCTCACGCTCACAGGGCCAT	0.612													T	41969718	C	T	41969718	3	4	81	1	0	0	0	0	1	0	0	0	3961	838	29	2	242	2	CSDC2	22	41969718	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	1889355	41969718	9334848	73	5409											
P2RY8	286530	broad.mit.edu	37	chrX	1584460	1584460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggagcgcacggacGtggtcctggcggagaagagg	7	4	19	11	6	0	2	0	0	0	2	2	5	1	4	2	7	1	1	2	7	1	0			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:1584460G>A	uc022brv.1	-	0	992	c.992C>T	c.(991-993)aCg>aTg	p.T331M	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Missense_Mutation_p.T331M	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	331						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCGCACGGACGTGGTCCTGGC	0.701			T	CRLF2	"B-ALL, Downs associated ALL"								A	1584460	G	A	1584460	3	1	81	1	0	0	0	0	1	0	0	0	11431	1145	40	1	91	1	P2RY8	23	1584460	Missense_Mutation	SNP	G	TCGA-06-2564-01A-01D-1494-08		1584460	153686100	74	5410											
RGAG1	57529	broad.mit.edu	37	chrX	109694900	109694900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccccagcactaatgaCggccctaccctctggagtga	10	8	9	14	1	1	2	0	2	1	0	2	3	2	3	4	2	2	1	4	2	3	2			TCGA-06-2564-01A-01D-1494-08	TCGA-06-2564-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9225f366-b08b-4c43-a09f-a16b3bcfb5aa	60224709-45d6-4a6f-8b99-9ad6515e80fa	g.chrX:109694900C>T	uc004eor.2	+	2	1301	c.1055C>T	c.(1054-1056)aCg>aTg	p.T352M	RGAG1_uc011msr.1_Missense_Mutation_p.T352M	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	352										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCACTAATGACGGCCCTACCC	0.537													T	109694900	C	T	109694900	3	4	81	1	0	0	0	0	1	0	0	0	13362	536	19	1	1057	1	RGAG1	23	109694900	Missense_Mutation	SNP	C	TCGA-06-2564-01A-01D-1494-08	108110440	109694900	45575660	75	5411											
LRRC40	55631	broad.mit.edu	37	chr1	70611582	70611582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggatttccatccagtagTaatgttctaaacaaaagaga	17	11	7	6	0	1	1	0	0	1	1	3	3	3	2	2	1	1	3	2	1	7	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:70611582T>C	uc001der.2	-	14	1848	c.1710A>G	c.(1708-1710)ttA>ttG	p.L570L		NM_017768	NP_060238	Q9H9A6	LRC40_HUMAN	Homo sapiens leucine rich repeat containing 40 (LRRC40), mRNA.	570										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						CATCCAGTAGTAATGTTCTAA	0.313													C	70611582	T	C	70611582	2	2	82	1	0	0	0	0	0	0	0	1	9068	1635	57	3		3	LRRC40	1	70611582	Silent	SNP	T	TCGA-06-2565-01A-01D-1494-08		70611582	178639039	1	5412											
IQGAP3	128239	broad.mit.edu	37	chr1	156497822	156497822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttcctgcctcatctccCggcgtgatgtcaaagatgac	9	11	8	13	2	3	3	2	2	1	1	5	3	4	3	3	1	2	0	3	1	2	1	rs144640189	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:156497822C>T	uc001fpf.3	-	36	4779	c.4704G>A	c.(4702-4704)ccG>ccA	p.P1568P		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1568					small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	p.T1567T(1)		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)					CCTCATCTCCCGGCGTGATGT	0.512													T	156497822	C	T	156497822	2	4	82	1	0	0	0	0	0	0	0	1	7874	639	23	1		1	IQGAP3	1	156497822	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	85886240	156497822	92752799	2	5413											
SELP	6403	broad.mit.edu	37	chr1	169562878	169562878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcttagcaaagccaggAgcgtcccacccattatcaga	11	9	8	13	1	2	1	1	0	1	1	3	2	3	2	3	1	3	2	3	1	3	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:169562878A>G	uc001ggi.4	-	13	2437	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.L790P	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	791					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.T790M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGCCAGGAGCGTCCCACC	0.413													G	169562878	A	G	169562878	3	3	82	1	0	0	0	0	1	0	0	0	14112	304	11	3	132	3	SELP	1	169562878	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	13065056	169562878	79687743	3	5414											
CRB1	23418	broad.mit.edu	37	chr1	197407699	197407699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattaccctcaacaGtctgtgggaatgagaagaca	15	7	11	8	0	2	4	1	1	1	4	2	6	2	5	1	1	3	1	1	1	4	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:197407699G>A	uc001gtz.3	+	9	3981	c.3772G>A	c.(3772-3774)Gtc>Atc	p.V1258I	CRB1_uc010poz.2_Missense_Mutation_p.V1234I|CRB1_uc009wza.3_Missense_Mutation_p.V1146I|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.V722I|CRB1_uc010ppd.2_Missense_Mutation_p.V739I|CRB1_uc001gub.1_Missense_Mutation_p.V907I	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	1258	EGF-like 18.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACCCTCAACAGTCTGTGGGAA	0.413													A	197407699	G	A	197407699	3	1	82	1	0	0	0	0	1	0	0	0	3879	1029	36	2	3810	2	CRB1	1	197407699	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	27844821	197407699	51842922	4	5415											
CACNA1S	779	broad.mit.edu	37	chr1	201028369	201028369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagggtgaagatgataGtgaaggccacattgaggatg	12	9	14	6	0	1	5	0	4	1	1	2	6	1	6	2	3	0	0	2	3	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:201028369G>A	uc001gvv.3	-	26	3700	c.3473C>T	c.(3472-3474)aCt>aTt	p.T1158I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1158					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GAAGATGATAGTGAAGGCCAC	0.597													A	201028369	G	A	201028369	3	1	82	1	0	0	0	0	1	0	0	0	2573	1029	36	2	2220	2	CACNA1S	1	201028369	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	3620670	201028369	48222252	5	5416											
OBSCN	84033	broad.mit.edu	37	chr1	228473808	228473808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcacatcatcgaggacctgGaggatgtggatgtgcaggag	10	8	16	7	1	1	0	1	0	0	0	2	6	1	5	1	5	2	2	1	5	0	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:228473808G>A	uc009xez.1	+	33	9078	c.9034G>A	c.(9034-9036)Gag>Aag	p.E3012K	OBSCN_uc001hsn.3_Missense_Mutation_p.E3012K|OBSCN_uc001hsq.1_Missense_Mutation_p.E268K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3012	Ig-like 30.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGAGGACCTGGAGGATGTGGA	0.647													A	228473808	G	A	228473808	3	1	82	1	0	0	0	0	1	0	0	0	10888	1175	41	2	9164	2	OBSCN	1	228473808	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	27445439	228473808	20776813	6	5417											
TRIM58	25893	broad.mit.edu	37	chr1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggaaatgcagaggcagCgcttcagattggagtttgag	12	9	15	5	1	1	3	1	1	0	2	1	5	1	5	0	3	2	4	0	3	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr1:248028031C>T	uc001ido.3	+	2	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592													T	248028031	C	T	248028031	3	4	82	1	0	0	0	0	1	0	0	0	16632	768	27	1	551	1	TRIM58	1	248028031	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	19554223	248028031	1222590	7	5418											
GALNT14	79623	broad.mit.edu	37	chr2	31178570	31178570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagagtggtgccctgggCgatgtcagcgccccgaatcc	7	7	14	13	3	2	1	2	0	0	1	3	3	3	1	4	2	2	0	4	2	1	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:31178570C>T	uc002rns.3	-	6	1223	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	GALNT14_uc002rnq.3_Missense_Mutation_p.A170T|GALNT14_uc010ymr.2_Missense_Mutation_p.A155T|GALNT14_uc002rnr.3_Missense_Mutation_p.A190T|GALNT14_uc010ezo.2_Missense_Mutation_p.A157T|GALNT14_uc010ezp.1_Missense_Mutation_p.A161T	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	190	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTGCCCTGGGCGATGTCAGCG	0.597													T	31178570	C	T	31178570	3	4	82	1	0	0	0	0	1	0	0	0	6266	768	27	1	1130	1	GALNT14	2	31178570	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		31178570	212020803	8	5419											
LTBP1	4052	broad.mit.edu	37	chr2	33482448	33482448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtaggtaaaggacctgtAtttgtcaagccaaagaacac	15	9	9	8	0	1	1	1	0	0	1	1	2	1	2	2	2	2	3	2	2	7	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:33482448A>G	uc021vft.1	+	11	2288	c.2265A>G	c.(2263-2265)gtA>gtG	p.V755V	LTBP1_uc002rou.3_Silent_p.V429V|LTBP1_uc002rov.3_Intron|LTBP1_uc010ymz.2_Silent_p.V429V|LTBP1_uc010yna.2_Intron	NM_206943	NP_996826	Q14766	LTBP1_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 1 (LTBP1), transcript variant 1, mRNA.	755					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGACCTGTATTTGTCAAGC	0.502													G	33482448	A	G	33482448	2	3	82	1	0	0	0	0	0	0	0	1	9143	436	16	3		3	LTBP1	2	33482448	Silent	SNP	A	TCGA-06-2565-01A-01D-1494-08	2303878	33482448	209716925	9	5420											
ZAP70	7535	broad.mit.edu	37	chr2	98351132	98351132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacattgaacttggctgcGgcaactttggctcagtgcgc	7	11	12	11	2	1	2	1	2	0	0	1	2	1	2	0	3	4	3	0	3	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:98351132G>A	uc002syd.1	+	8	1246	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ZAP70_uc010yvf.1_3'UTR|ZAP70_uc002sye.1_Missense_Mutation_p.G237S|ZAP70_uc002syf.1_Missense_Mutation_p.G40S	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	347	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						ACTTGGCTGCGGCAACTTTGG	0.622													A	98351132	G	A	98351132	3	1	82	1	0	0	0	0	1	0	0	0	17616	1116	39	1	1065	1	ZAP70	2	98351132	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	64868684	98351132	144848241	10	5421											
GCC2	9648	broad.mit.edu	37	chr2	109092033	109092033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaaggaggagaaaataaAtaagataaaattagttgccg	22	7	10	2	1	0	3	0	0	0	3	0	5	0	4	1	2	1	1	1	2	10	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:109092033A>G	uc002tec.3	+	7	3057	c.2903A>G	c.(2902-2904)aAt>aGt	p.N968S	GCC2_uc002ted.3_Missense_Mutation_p.N867S	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	968					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAAAATAAATAAGATAAAA	0.299													G	109092033	A	G	109092033	3	3	82	1	0	0	0	0	1	0	0	0	6340	101	4	3	2933	3	GCC2	2	109092033	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	10740901	109092033	134107340	11	5422											
KIF5C	3800	broad.mit.edu	37	chr2	149866823	149866823	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtatcaaggaggccgtgCgggccaagaacatggccaga	12	5	14	10	3	1	2	1	0	0	2	2	3	1	3	3	4	2	1	3	4	4	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr2:149866823C>A	uc010zbu.2	+	23	3120	c.2725C>A	c.(2725-2727)Cgg>Agg	p.R909R	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Silent_p.R191R	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	909	Globular.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGCCGTGCGGGCCAAGAA	0.632													A	149866823	C	A	149866823	2	1	82	1	0	0	0	0	0	0	0	1	8365	759	27	4		4	KIF5C	2	149866823	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	40774790	149866823	93332550	12	5423											
ZNF860	344787	broad.mit.edu	37	chr3	32030908	32030908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagatattcatgactttGagtttcaatggcaagaagac	15	11	10	5	0	2	5	2	2	0	3	2	6	2	6	0	2	0	2	0	2	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:32030908G>C	uc011axg.2	+	1	886	c.337G>C	c.(337-339)Gag>Cag	p.E113Q	ZNF860_uc021wuv.1_Missense_Mutation_p.E113Q	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TCATGACTTTGAGTTTCAATG	0.388													C	32030908	G	C	32030908	3	2	82	1	0	0	0	0	1	0	0	0	18293	1291	45	4	339	4	ZNF860	3	32030908	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		32030908	165991522	13	5424											
SCN5A	6331	broad.mit.edu	37	chr3	38639416	38639416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtagcgctgggcgagaCggttccagcatggtggacac	8	7	16	10	3	1	1	1	0	0	1	2	3	2	2	1	5	2	4	1	5	1	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:38639416C>T	uc021wvo.1	-	12	2118	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H	SCN5A_uc021wvk.1_Missense_Mutation_p.R689H|SCN5A_uc021wvl.1_Missense_Mutation_p.R689H|SCN5A_uc021wvm.1_Missense_Mutation_p.R689H|SCN5A_uc021wvn.1_Missense_Mutation_p.R689H|SCN5A_uc021wvp.1_Missense_Mutation_p.R689H|SCN5A_uc021wvq.1_Missense_Mutation_p.R689H|SCN5A_uc021wvr.1_Missense_Mutation_p.R689H|SCN5A_uc021wvs.1_Missense_Mutation_p.R689H|SCN5A_uc021wvt.1_Missense_Mutation_p.R689H|SCN5A_uc021wvu.1_Missense_Mutation_p.R689H|SCN5A_uc021wvv.1_Missense_Mutation_p.R689H|SCN5A_uc021wvj.1_Missense_Mutation_p.R555H|SCN5A_uc021wvi.1_Missense_Mutation_p.R555H|SCN5A_uc021wvw.1_Missense_Mutation_p.R300H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	689					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CTGGGCGAGACGGTTCCAGCA	0.537													T	38639416	C	T	38639416	3	4	82	1	0	0	0	0	1	0	0	0	14015	536	19	1	4044	1	SCN5A	3	38639416	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	6608508	38639416	159383014	14	5425											
GPR27	2850	broad.mit.edu	37	chr3	71804047	71804047	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacggagaagaggctgTgcaagatgttctacgccgtc	11	8	13	9	3	2	4	1	0	1	4	3	5	2	4	1	2	2	3	1	2	4	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:71804047T>G	uc011bge.2	+	0	847	c.847T>G	c.(847-849)Tgc>Ggc	p.C283G	EIF4E3_uc003dox.3_5'Flank|EIF4E3_uc011bgd.2_5'Flank|EIF4E3_uc010hoc.3_5'Flank	NM_018971	NP_061844	Q9NS67	GPR27_HUMAN	Homo sapiens G protein-coupled receptor 27 (GPR27), mRNA.	283						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.C283G(2)		kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		GAAGAGGCTGTGCAAGATGTT	0.721													G	71804047	T	G	71804047	3	3	82	1	0	0	0	0	1	0	0	0	6739	1696	59	5	849	5	GPR27	3	71804047	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	33164631	71804047	126218383	15	5426											
CD96	10225	broad.mit.edu	37	chr3	111356989	111356989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaactgccaatggatctaCgaaaactaatcacgtccata	16	8	5	12	2	2	0	1	0	1	0	3	2	3	1	2	1	4	0	2	1	7	3	rs140955483		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:111356989C>T	uc003dxw.3	+	12	1669	c.1499C>T	c.(1498-1500)aCg>aTg	p.T500M	CD96_uc003dxx.3_Missense_Mutation_p.T484M|CD96_uc010hpy.1_Missense_Mutation_p.T483M	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	500	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane		p.T500A(1)		central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						AATGGATCTACGAAAACTAAT	0.388									Opitz Trigonocephaly syndrome				T	111356989	C	T	111356989	3	4	82	1	0	0	0	0	1	0	0	0	3078	536	19	1	1549	1	CD96	3	111356989	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	39552942	111356989	86665441	16	5427											
TNK2	10188	broad.mit.edu	37	chr3	195599202	195599203	+	Frame_Shift_Del	DEL	CT	CT	-																															ggggtcactgtcgccatgccCtgtgtggatgaagctgttct																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr3:195599202_195599203delCT	uc003fvu.1	-	9	1938_1939	c.1395_1396delAG	c.(1393-1398)acagggfs	p.T465fs	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_5'UTR|TNK2_uc003fvs.1_Frame_Shift_Del_p.T497fs|TNK2_uc003fvt.1_Frame_Shift_Del_p.T528fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Del_p.T295fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	465	CRIB.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCGCCATGCCCTGTGTGGATGA	0.673													-	195599203	CT	-	195599202	7	5	82	1	0	1	0	1	0	0	0	0	16418	681	24	0	1793	0	TNK2	3	195599202	Frame_Shift_Del	DEL	CT	TCGA-06-2565-01A-01D-1494-08	84242213	195599202	2423228	17	5428											
PKD2	5311	broad.mit.edu	37	chr4	88987002	88987002	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccgaacatgaacatcagCagatgagagacgacttggag	15	6	12	8	2	1	5	1	3	0	2	1	9	1	6	1	1	3	1	1	1	2	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr4:88987002C>T	uc003hre.3	+	11	2416	c.2329C>T	c.(2329-2331)Cag>Tag	p.Q777*	PKD2_uc011cdf.2_Nonsense_Mutation_p.Q195*|PKD2_uc011cdg.2_Nonsense_Mutation_p.Q103*|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	777	EF-hand domain.|EF-hand.					basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		TGAACATCAGCAGATGAGAGA	0.443													T	88987002	C	T	88987002	4	4	82	1	0	0	0	0	0	1	0	0	12043	711	25	2	2375	2	PKD2	4	88987002	Nonsense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		88987002	102167274	18	5429											
TERT	7015	broad.mit.edu	37	chr5	1279521	1279521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcccaggaggccggggCgccgcgcccgctcgtagttg	4	4	18	15	7	0	0	0	0	0	0	1	1	0	1	4	5	0	3	4	5	1	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:1279521C>T	uc003jcb.1	-	4	2073	c.2015G>A	c.(2014-2016)cGc>cAc	p.R672H	TERT_uc003jbz.1_5'UTR|TERT_uc003jcc.1_Missense_Mutation_p.R672H|TERT_uc003jca.1_Missense_Mutation_p.R672H|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Intron|TERT_uc021xwc.1_Missense_Mutation_p.R124H	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	672	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity	p.R672H(2)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GAGGCCGGGGCGCCGCGCCCG	0.697									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				T	1279521	C	T	1279521	3	4	82	1	0	0	0	0	1	0	0	0	15864	768	27	1	1431	1	TERT	5	1279521	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		1279521	179635739	19	5430											
ADAMTS16	170690	broad.mit.edu	37	chr5	5222920	5222920	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacatctgtaaagccctgTggtgccatcgtattggaagg	10	10	13	8	1	1	0	0	0	1	0	2	2	1	2	2	4	2	2	2	4	4	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:5222920T>G	uc003jdl.3	+	10	1762	c.1624T>G	c.(1624-1626)Tgg>Ggg	p.W542G	ADAMTS16_uc003jdk.1_Missense_Mutation_p.W542G|ADAMTS16_uc003jdj.1_Missense_Mutation_p.W542G	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	542	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TAAAGCCCTGTGGTGCCATCG	0.358													G	5222920	T	G	5222920	3	3	82	1	0	0	0	0	1	0	0	0	261	1696	59	5	1666	5	ADAMTS16	5	5222920	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	3943399	5222920	175692340	20	5431											
BASP1	10409	broad.mit.edu	37	chr5	17275820	17275820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggagaccaaaagtgaCggggccccagcttcagactc	11	4	12	14	1	1	3	1	1	0	2	2	4	1	3	4	3	1	1	4	3	2	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:17275820C>T	uc003jfx.3	+	1	674	c.495C>T	c.(493-495)gaC>gaT	p.D165D	BASP1_uc021xws.1_Silent_p.D165D	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	165					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCAAAAGTGACGGGGCCCCAG	0.682													T	17275820	C	T	17275820	2	4	82	1	0	0	0	0	0	0	0	1	1322	535	19	1		1	BASP1	5	17275820	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	12052900	17275820	163639440	21	5432											
FBN2	2201	broad.mit.edu	37	chr5	127728882	127728882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacaccggctcccccaaCgccaggagaaaagccattgc	11	3	8	19	2	0	1	0	0	0	1	1	2	1	1	7	2	3	1	7	2	3	1	rs138046782		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:127728882C>T	uc003kuu.3	-	9	1850	c.1411G>A	c.(1411-1413)Gtt>Att	p.V471I	FBN2_uc003kuv.2_Missense_Mutation_p.V438I	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	471					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.V471I(3)|p.G470G(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCTCCCCCAACGCCAGGAGAA	0.577													T	127728882	C	T	127728882	3	4	82	1	0	0	0	0	1	0	0	0	5752	536	19	1	7551	1	FBN2	5	127728882	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	110453062	127728882	53186378	22	5433											
PCDHGC5	56114	broad.mit.edu	37	chr5	140711985	140711985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccggcgtggagctggcGcccctctccgcagagcccgg	4	6	14	17	5	2	1	0	0	2	1	3	2	2	2	5	4	3	2	5	4	1	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:140711985G>A	uc003lji.2	+	0	1734	c.1734G>A	c.(1732-1734)gcG>gcA	p.A578A	PCDHGC5_uc011dan.2_Silent_p.A578A	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	579	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGCCCCTCTCCG	0.657													A	140711985	G	A	140711985	2	1	82	1	0	0	0	0	0	0	0	1	11647	1074	38	1		1	PCDHGC5	5	140711985	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	12983103	140711985	40203275	23	5434											
SPINK6	404203	broad.mit.edu	37	chr5	147585617	147585617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtgtcttcagtcagggagGacaggtcagtgcctattttt	8	13	13	7	0	4	0	3	0	1	0	4	2	4	2	1	4	1	0	1	4	1	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr5:147585617G>A	uc003lpa.3	+	1	380	c.77G>A	c.(76-78)gGa>gAa	p.G26E	SPINK6_uc021yff.1_Missense_Mutation_p.G26E	NM_205841	NP_995313	Q6UWN8	ISK6_HUMAN	Homo sapiens serine peptidase inhibitor, Kazal type 6 (SPINK6), transcript variant 1, mRNA.	26	Kazal-like.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|ovary(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCAGGGAGGACAGGTCAGT	0.383													A	147585617	G	A	147585617	3	1	82	1	0	0	0	0	1	0	0	0	15159	1174	41	2	83	2	SPINK6	5	147585617	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	6873632	147585617	33329643	24	5435											
GPR116	221395	broad.mit.edu	37	chr6	46826170	46826170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagacattcttcctcGtatagacttcccggggctgg	8	10	10	13	2	1	2	0	0	1	2	4	2	3	2	3	3	1	2	3	3	3	5	rs141322343	byFrequency	TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr6:46826170G>A	uc003oyo.3	-	16	3759	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	GPR116_uc011dwj.1_Missense_Mutation_p.T712M|GPR116_uc011dwk.1_Missense_Mutation_p.T586M|GPR116_uc003oyp.3_Missense_Mutation_p.T1015M|GPR116_uc003oyq.3_Missense_Mutation_p.T1157M|GPR116_uc010jzi.1_Missense_Mutation_p.T829M	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1157					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTCTTCCTCGTATAGACTTC	0.557													A	46826170	G	A	46826170	3	1	82	1	0	0	0	0	1	0	0	0	6687	1145	40	1	590	1	GPR116	6	46826170	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		46826170	124288897	25	5436											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	82	1	0	0	0	0	1	0	0	0	5006	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		55211080	103927583	26	5437											
EGFR	1956	broad.mit.edu	37	chr7	55240690	55240690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccaggcctaagatcccgtCcatcgccactgggatggtgg	7	9	12	13	2	0	1	0	0	0	1	4	2	3	2	5	4	0	0	5	4	1	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:55240690C>G	uc003tqk.3	+	16	2180	c.1934C>G	c.(1933-1935)tCc>tGc	p.S645C	EGFR_uc022adm.1_Missense_Mutation_p.S645C|EGFR_uc010kzg.2_Missense_Mutation_p.S600C|EGFR_uc022adn.1_Missense_Mutation_p.S600C|EGFR_uc011kco.2_Missense_Mutation_p.S592C	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	645					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGATCCCGTCCATCGCCACT	0.612		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55240690	C	G	55240690	3	3	82	1	0	0	0	0	1	0	0	0	5006	855	30	4	2264	4	EGFR	7	55240690	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	29610	55240690	103897973	27	5438											
TYW1	55253	broad.mit.edu	37	chr7	66482862	66482862	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaaaatgttgacaagtGgctctggatgcttggcgcgc	9	10	14	8	2	1	1	0	1	1	0	1	2	1	2	0	4	1	4	0	4	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:66482862G>A	uc003tvn.3	+	5	742	c.593G>A	c.(592-594)tGg>tAg	p.W198*	TYW1_uc010lai.3_Non-coding_Transcript	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	198	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GTTGACAAGTGGCTCTGGATG	0.512													A	66482862	G	A	66482862	4	1	82	1	0	0	0	0	0	1	0	0	16920	1357	47	2	615	2	TYW1	7	66482862	Nonsense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	11242172	66482862	92655801	28	5439											
CD36	948	broad.mit.edu	37	chr7	80290463	80290463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcccaatggtgccatcttCgaaccttcactatcagttgg	9	11	8	13	1	3	0	2	0	1	0	4	1	3	0	3	2	3	1	3	2	3	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:80290463C>T	uc003uhc.3	+	7	1050	c.366C>T	c.(364-366)ttC>ttT	p.F122F	CD36_uc011kgv.2_Silent_p.F46F|CD36_uc003uhd.4_Silent_p.F122F|CD36_uc003uhe.4_Silent_p.F122F|CD36_uc003uhf.4_Silent_p.F122F|CD36_uc003uhg.4_Silent_p.F122F|CD36_uc003uhh.4_Silent_p.F122F|CD36_uc022agu.1_Silent_p.F122F|CD36_uc022agv.1_Silent_p.F122F	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	122					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTGCCATCTTCGAACCTTCAC	0.428													T	80290463	C	T	80290463	2	4	82	1	0	0	0	0	0	0	0	1	3037	883	31	1		1	CD36	7	80290463	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08	13807601	80290463	78848200	29	5440											
SEMA3E	9723	broad.mit.edu	37	chr7	83034830	83034830	+	Frame_Shift_Del	DEL	C	C	-																															tctggtaggtagcaaaaaaaCgtcctctgaaaaattaaagg																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr7:83034830delC	uc003uhy.2	-	8	1555	c.934delG	c.(934-936)gttfs	p.V312fs	SEMA3E_uc022agy.1_Frame_Shift_Del_p.V252fs	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	312	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.D311Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGCAAAAAAACGTCCTCTGAA	0.313													-	83034830	C	-	83034830	7	5	82	1	0	1	0	1	0	0	0	0	14121	536	19	0	1429	0	SEMA3E	7	83034830	Frame_Shift_Del	DEL	C	TCGA-06-2565-01A-01D-1494-08	2744367	83034830	76103833	30	5441											
ANK1	286	broad.mit.edu	37	chr8	41521227	41521227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgaattgctcctctgtcaCctgctcccctggaatattct	6	14	7	14	1	3	1	1	1	2	0	5	2	5	2	4	1	2	2	4	1	3	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:41521227C>T	uc003xok.3	-	39	5512	c.5428G>A	c.(5428-5430)Gtg>Atg	p.V1810M	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.V964M|ANK1_uc003xoi.3_Missense_Mutation_p.V1810M|ANK1_uc003xoj.3_Missense_Mutation_p.V1810M|ANK1_uc003xol.3_Missense_Mutation_p.V1648M|ANK1_uc003xom.3_Missense_Mutation_p.V1851M|ANK1_uc003xof.3_Missense_Mutation_p.V85M|ANK1_uc011lcl.2_Missense_Mutation_p.V85M|ANK1_uc003xod.3_Missense_Mutation_p.V85M|ANK1_uc003xoc.3_Missense_Mutation_p.V85M	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1810	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCCTCTGTCACCTGCTCCCCT	0.537													T	41521227	C	T	41521227	3	4	82	1	0	0	0	0	1	0	0	0	620	507	18	2	332	2	ANK1	8	41521227	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		41521227	104842795	31	5442											
RP1	6101	broad.mit.edu	37	chr8	55537454	55537454	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacagttgagatgaaagttCgattcagaataaaagaggaa	18	9	11	3	1	1	5	1	3	0	3	2	8	1	6	0	1	0	2	0	1	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:55537454C>T	uc003xsd.1	+	3	1160	c.1012C>T	c.(1012-1014)Cga>Tga	p.R338*	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	338					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GATGAAAGTTCGATTCAGAAT	0.328													T	55537454	C	T	55537454	4	4	82	1	0	0	0	0	0	1	0	0	13623	876	31	1	1022	1	RP1	8	55537454	Nonsense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	14016227	55537454	90826568	32	5443											
SLCO5A1	81796	broad.mit.edu	37	chr8	70650427	70650427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttaagatcctgacagctGctcttggtaggtctacaaaa	11	12	9	9	0	2	2	0	1	2	1	3	2	3	2	1	2	4	4	1	2	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:70650427G>T	uc003xyl.3	-	4	1978	c.1271C>A	c.(1270-1272)gCa>gAa	p.A424E	SLCO5A1_uc010lzb.3_Intron|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.A424E|SLCO5A1_uc010lzc.2_Intron	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	424						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			CCTGACAGCTGCTCTTGGTAG	0.348													T	70650427	G	T	70650427	3	4	82	1	0	0	0	0	1	0	0	0	14825	1319	46	4	1299	4	SLCO5A1	8	70650427	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	15112973	70650427	75713595	33	5444											
KLF10	7071	broad.mit.edu	37	chr8	103662460	103662460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgatagatggcgccggGcatgcttggtcaaatggtca	8	10	15	8	2	2	2	2	1	0	1	2	2	2	2	1	5	1	3	1	5	2	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr8:103662460G>A	uc011lhk.1	-	3	1497	c.1343C>T	c.(1342-1344)gCc>gTc	p.A448V	KLF10_uc011lhj.1_Missense_Mutation_p.A437V	NM_005655	NP_005646	Q13118	KLF10_HUMAN	Homo sapiens Kruppel-like factor 10 (KLF10), transcript variant 1, mRNA.	448					cell proliferation|cell-cell signaling|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|skeletal system development|transforming growth factor beta receptor signaling pathway	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(3)	18	all_epithelial(15;5.63e-07)|Lung NSC(17;8.18e-05)|all_lung(17;0.000169)		OV - Ovarian serous cystadenocarcinoma(57;0.000112)|STAD - Stomach adenocarcinoma(118;0.0826)			ATGGCGCCGGGCATGCTTGGT	0.542													A	103662460	G	A	103662460	3	1	82	1	0	0	0	0	1	0	0	0	8396	1203	42	2	103	2	KLF10	8	103662460	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	33012033	103662460	42701562	34	5445											
HEMGN	55363	broad.mit.edu	37	chr9	100698486	100698486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtttccttttcatgcActtcagcttttctttttcta	5	22	5	9	0	4	1	2	1	2	0	5	1	5	1	1	0	2	3	1	0	1	9			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr9:100698486A>G	uc004axy.3	-	1	248	c.140T>C	c.(139-141)gTg>gCg	p.V47A	HEMGN_uc004axz.3_Missense_Mutation_p.V47A	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	47	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CTTTTCATGCACTTCAGCTTT	0.348													G	100698486	A	G	100698486	3	3	82	1	0	0	0	0	1	0	0	0	7105	159	6	3	1326	3	HEMGN	9	100698486	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08		100698486	40514945	35	5446											
PTCHD3	374308	broad.mit.edu	37	chr10	27702648	27702648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcgccgctccgccttggCcgggctccccacaggggtgt	4	6	15	16	4	0	0	0	0	0	0	2	1	2	0	6	4	1	2	6	4	1	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:27702648C>T	uc001itu.2	-	0	650	c.532G>A	c.(532-534)Gcc>Acc	p.A178T		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	178					spermatid development	integral to membrane	hedgehog receptor activity	p.P177L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TCCGCCTTGGCCGGGCTCCCC	0.632													T	27702648	C	T	27702648	3	4	82	1	0	0	0	0	1	0	0	0	12819	739	26	2	1787	2	PTCHD3	10	27702648	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		27702648	107832099	36	5447											
DNA2	1763	broad.mit.edu	37	chr10	70196997	70196997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgcaactgccactcttctCcctatgaaaagaccaaagag	15	8	6	12	0	2	3	0	1	2	2	3	3	2	3	3	0	3	1	3	0	6	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:70196997C>T	uc021pru.1	-	10	1674	c.1674_splice	c.e10-1	p.M558_splice	DNA2_uc021prt.1_Splice_Site_p.M558_splice|DNA2_uc001jog.2_Splice_Site_p.M472_splice|DNA2_uc001joh.2_Splice_Site	NM_001080449	NP_001073918	P51530	DNA2L_HUMAN	Homo sapiens DNA replication helicase 2 homolog (yeast) (DNA2), mRNA.	472					base-excision repair|DNA replication, removal of RNA primer|mitochondrial DNA repair|mitochondrial DNA replication|positive regulation of DNA replication|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	mitochondrial nucleoid|nucleoplasm	5'-flap endonuclease activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|site-specific endodeoxyribonuclease activity, specific for altered base			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)	20						CCACTCTTCTCCCTATGAAAA	0.343													T	70196997	C	T	70196997	3	4	82	1	0	0	0	0	1	0	0	0	4635	869	30	2	1813	2	DNA2	10	70196997	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	42494349	70196997	65337750	37	5448											
PTEN	5728	broad.mit.edu	37	chr10	89692818	89692818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagctagaacttaTcaaacccttttgtgaagatc	13	10	5	13	0	1	3	1	1	0	2	2	3	1	3	3	0	3	1	3	0	5	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:89692818T>C	uc001kfb.3	+	4	1334	c.302T>C	c.(301-303)aTc>aCc	p.I101T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	101	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.I101T(14)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.I101del(2)|p.I101N(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.I101M(1)|p.I101I(1)|p.I101fs*10(1)|p.F56fs*2(1)|p.(L100)fs(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGAACTTATCAAACCCTTT	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692818	T	C	89692818	3	2	82	1	0	0	0	0	1	0	0	0	12823	1435	50	3	320	3	PTEN	10	89692818	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	19495821	89692818	45841929	38	5449											
FAM178A	55719	broad.mit.edu	37	chr10	102697209	102697209	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgcagattttaagtacAttgatggaaataacaattag	16	13	8	4	0	1	2	1	1	0	1	1	3	1	3	0	1	3	2	0	1	6	6			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr10:102697209A>G	uc001krs.3	+	9	3029	c.2487A>G	c.(2485-2487)acA>acG	p.T829T	FAM178A_uc001krt.4_Silent_p.T829T	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	829																	TTTTAAGTACATTGATGGAAA	0.308													G	102697209	A	G	102697209	2	3	82	1	0	0	0	0	0	0	0	1	5548	204	8	3		3	FAM178A	10	102697209	Silent	SNP	A	TCGA-06-2565-01A-01D-1494-08	13004391	102697209	32837538	39	5450											
OR56A3	390083	broad.mit.edu	37	chr11	5969282	5969282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgagactcaaggcagagGgtgccgtggcaaaggcccta	10	6	15	10	1	1	2	1	1	0	2	1	3	1	2	2	4	2	3	2	4	3	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:5969282G>A	uc010qzt.2	+	0	706	c.706G>A	c.(706-708)Ggt>Agt	p.G236S		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGGCAGAGGGTGCCGTGGC	0.522													A	5969282	G	A	5969282	3	1	82	1	0	0	0	0	1	0	0	0	11210	1232	43	2	708	2	OR56A3	11	5969282	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		5969282	129037234	40	5451											
MLL	4297	broad.mit.edu	37	chr11	118376191	118376191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggggttcagcctcctcCggatccccaacttttggttt	5	15	9	12	1	1	0	1	0	0	0	4	1	4	1	5	4	2	2	5	4	2	6	rs147412214		TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr11:118376191C>T	uc001pta.3	+	26	9598	c.9575C>T	c.(9574-9576)cCg>cTg	p.P3192L	MLL_uc001ptb.3_Missense_Mutation_p.P3195L	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3192					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CAGCCTCCTCCGGATCCCCAA	0.507			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								T	118376191	C	T	118376191	3	4	82	1	0	0	0	0	1	0	0	0	9695	652	23	1	9681	1	MLL	11	118376191	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	112406909	118376191	16630325	41	5452											
CD163L1	283316	broad.mit.edu	37	chr12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagcacacagaattcccaCggcaccctggacattcacct	12	8	6	15	1	1	1	1	0	0	1	2	2	2	2	3	2	1	2	3	2	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:7531814C>T	uc010sge.2	-	8	2187	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	711	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													T	7531814	C	T	7531814	3	4	82	1	0	0	0	0	1	0	0	0	2998	536	19	1	2274	1	CD163L1	12	7531814	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		7531814	126320081	42	5453											
NCKAP1L	3071	broad.mit.edu	37	chr12	54914540	54914540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaatctgccatgttgcGttatgccattgctttccccc	6	13	10	12	1	1	0	0	0	1	0	2	2	2	2	4	2	4	3	4	2	2	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:54914540G>A	uc001sgc.4	+	16	1767	c.1688G>A	c.(1687-1689)cGt>cAt	p.R563H	NCKAP1L_uc010sox.2_Missense_Mutation_p.R105H|NCKAP1L_uc010soy.2_Missense_Mutation_p.R513H	NM_005337	NP_005328	P55160	NCKPL_HUMAN	Homo sapiens NCK-associated protein 1-like (NCKAP1L), transcript variant 1, mRNA.	563					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GCCATGTTGCGTTATGCCATT	0.458													A	54914540	G	A	54914540	3	1	82	1	0	0	0	0	1	0	0	0	10298	1145	40	1	1754	1	NCKAP1L	12	54914540	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	47382726	54914540	78937355	43	5454											
CCT2	10576	broad.mit.edu	37	chr12	69987309	69987309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcaattaatttataattatCctgaacagctctttggtgct	11	16	7	7	0	1	1	0	1	1	0	2	1	2	1	1	2	3	3	1	2	6	6			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:69987309C>T	uc001svb.1	+	9	992	c.898C>T	c.(898-900)Cct>Tct	p.P300S	CCT2_uc010stl.1_Missense_Mutation_p.P253S	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	300					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding	p.P300S(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTATAATTATCCTGAACAGCT	0.353													T	69987309	C	T	69987309	3	4	82	1	0	0	0	0	1	0	0	0	2983	855	30	2	936	2	CCT2	12	69987309	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	15072769	69987309	63864586	44	5455											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100478382	100478382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaataactcattggcccatCcattttttgttttggttgca	8	17	7	9	0	1	0	1	0	0	0	2	0	2	0	2	2	2	4	2	2	2	8			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:100478382C>G	uc001tgq.3	-	9	1389	c.1160G>C	c.(1159-1161)gGa>gCa	p.G387A	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.G387A|UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.G37A	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	387										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATTGGCCCATCCATTTTTTGT	0.353													G	100478382	C	G	100478382	3	3	82	1	0	0	0	0	1	0	0	0	17071	855	30	4	3306	4	UHRF1BP1L	12	100478382	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	30491073	100478382	33373513	45	5456											
NOS1	4842	broad.mit.edu	37	chr12	117655934	117655934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcgtacgttcgcagggtGactccaaaaatatcctcatg	11	11	8	11	3	1	1	1	1	0	0	5	1	3	1	2	1	1	3	2	1	4	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr12:117655934G>A	uc001twn.2	-	28	5019	c.4308C>T	c.(4306-4308)gtC>gtT	p.V1436V	NOS1_uc021ren.1_Silent_p.V1066V|NOS1_uc021reo.1_Silent_p.V1066V|NOS1_uc001twm.2_Silent_p.V1402V	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1402					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TTCGCAGGGTGACTCCAAAAA	0.483													A	117655934	G	A	117655934	2	1	82	1	0	0	0	0	0	0	0	1	10617	1277	45	2		2	NOS1	12	117655934	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	17177552	117655934	16195961	46	5457											
SOCS4	122809	broad.mit.edu	37	chr14	55510054	55510054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaaactgcaagatgccGtggggcagtgttttccaata	13	9	11	8	1	0	2	0	0	0	2	1	2	1	2	2	2	4	3	2	2	5	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:55510054G>A	uc021rti.1	+	0	295	c.295G>A	c.(295-297)Gtg>Atg	p.V99M	SOCS4_uc001xbo.3_Missense_Mutation_p.V99M|SOCS4_uc001xbp.3_Missense_Mutation_p.V99M	NM_199421	NP_955453	Q8WXH5	SOCS4_HUMAN	Homo sapiens suppressor of cytokine signaling 4 (SOCS4), transcript variant 1, mRNA.	99					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GCAAGATGCCGTGGGGCAGTG	0.423													A	55510054	G	A	55510054	3	1	82	1	0	0	0	0	1	0	0	0	15010	1145	40	1	297	1	SOCS4	14	55510054	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		55510054	51839486	47	5458											
DACT1	51339	broad.mit.edu	37	chr14	59113060	59113060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggctccaccggggccaCaggaacatgggcgtcgtgaa	9	5	15	12	3	1	1	1	1	0	0	3	2	2	2	3	5	1	1	3	5	2	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:59113060C>A	uc001xdw.3	+	3	1883	c.1719C>A	c.(1717-1719)caC>caA	p.H573Q	DACT1_uc010trv.2_Missense_Mutation_p.H292Q|DACT1_uc001xdx.3_Missense_Mutation_p.H536Q|DACT1_uc010trw.2_Missense_Mutation_p.H292Q	NM_016651	NP_057735	Q9NYF0	DACT1_HUMAN	Homo sapiens dapper, antagonist of beta-catenin, homolog 1 (Xenopus laevis) (DACT1), transcript variant 1, mRNA.	573					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						ACCGGGGCCACAGGAACATGG	0.657													A	59113060	C	A	59113060	3	1	82	1	0	0	0	0	1	0	0	0	4256	477	17	4	1733	4	DACT1	14	59113060	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	3603006	59113060	48236480	48	5459											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagggccctgcaaagcccGcaatgcctttcgaatgaggt	10	8	11	12	2	1	1	1	1	0	0	2	2	1	1	3	2	3	2	3	2	3	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:68274397G>A	uc001xka.2	-	4	743	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.R202W|ZFYVE26_uc010tta.2_Missense_Mutation_p.R202W	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	202					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding	p.R202L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612													A	68274397	G	A	68274397	3	1	82	1	0	0	0	0	1	0	0	0	17769	1086	38	1	7167	1	ZFYVE26	14	68274397	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	9161337	68274397	39075143	49	5460											
CKB	1152	broad.mit.edu	37	chr14	103986328	103986328	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgagaagcccaggcggTcagcgttggagacgtcgaag	9	6	15	11	4	2	2	1	1	1	2	3	5	2	2	2	3	2	1	2	3	2	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr14:103986328T>G	uc001ynf.2	-	7	1125	c.1019A>C	c.(1018-1020)gAc>gCc	p.D340A		NM_001823	NP_001814	P12277	KCRB_HUMAN	Homo sapiens creatine kinase, brain (CKB), mRNA.	340	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			lung(2)|prostate(1)	3		Melanoma(154;0.155)	Epithelial(46;0.14)		Creatine(DB00148)	GCCCAGGCGGTCAGCGTTGGA	0.662													G	103986328	T	G	103986328	3	3	82	1	0	0	0	0	1	0	0	0	3477	1667	58	5	130	5	CKB	14	103986328	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	35711931	103986328	3363212	50	5461											
GJD2	57369	broad.mit.edu	37	chr15	35044812	35044812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacagccagcttgatcttgCgccatcccaggtggttgagt	7	10	12	12	1	1	2	0	2	1	0	2	2	2	2	3	2	3	3	3	2	0	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:35044812C>T	uc001zis.1	-	1	833	c.833G>A	c.(832-834)cGc>cAc	p.R278H	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	278					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		CTTGATCTTGCGCCATCCCAG	0.512													T	35044812	C	T	35044812	3	4	82	1	0	0	0	0	1	0	0	0	6473	768	27	1	136	1	GJD2	15	35044812	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		35044812	67486580	51	5462											
THSD4	79875	broad.mit.edu	37	chr15	71535188	71535188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaccaggtcccccaacatgGgcctttgtaccaaagtgaca	11	7	8	15	0	0	1	0	1	0	0	1	1	1	1	6	2	2	1	6	2	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr15:71535188G>A	uc002atb.1	+	3	744	c.665G>A	c.(664-666)gGg>gAg	p.G222E	THSD4_uc002atd.1_5'UTR	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	222	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAACATGGGCCTTTGTAC	0.597													A	71535188	G	A	71535188	3	1	82	1	0	0	0	0	1	0	0	0	15978	1232	43	2	679	2	THSD4	15	71535188	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	36490376	71535188	30996204	52	5463											
KRT27	342574	broad.mit.edu	37	chr17	38938701	38938701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagagccagtgcccccGcaagagccaagtctcctgga	10	5	10	16	1	2	2	1	0	1	2	3	3	2	3	5	1	3	1	5	1	2	0			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr17:38938701G>A	uc002hvg.3	-	0	86	c.45C>T	c.(43-45)tgC>tgT	p.C15C		NM_181537	NP_853515	Q7Z3Y8	K1C27_HUMAN	Homo sapiens keratin 27 (KRT27), mRNA.	15	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CAGTGCCCCCGCAAGAGCCAA	0.582													A	38938701	G	A	38938701	2	1	82	1	0	0	0	0	0	0	0	1	8522	1079	38	1		1	KRT27	17	38938701	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08		38938701	42256509	53	5464											
MYO5B	4645	broad.mit.edu	37	chr18	47352977	47352977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgctgagggtcattcCgctcttgtagttgtgcctat	5	15	12	9	1	2	1	1	1	1	0	3	1	3	1	2	1	2	6	2	1	2	6			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:47352977C>T	uc002leb.2	-	39	5699	c.5411G>A	c.(5410-5412)cGg>cAg	p.R1804Q	MYO5B_uc002ldz.3_Missense_Mutation_p.R374Q|MYO5B_uc002lea.2_Missense_Mutation_p.R919Q	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1804					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGGGTCATTCCGCTCTTGTAG	0.408													T	47352977	C	T	47352977	3	4	82	1	0	0	0	0	1	0	0	0	10155	652	23	1	139	1	MYO5B	18	47352977	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08		47352977	30724271	54	5465											
RNF152	220441	broad.mit.edu	37	chr18	59483671	59483672	+	Frame_Shift_Del	DEL	AG	AG	-																															aacagatctgacattccagcAgagagtcctgggacagcgtc																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:59483671_59483672delAG	uc002lih.1	-	1	437_438	c.25_26delCT	c.(25-27)ctgfs	p.L9fs	RNF152_uc021ula.1_Frame_Shift_Del_p.L9fs	NM_173557	NP_775828	Q8N8N0	RN152_HUMAN	Homo sapiens ring finger protein 152 (RNF152), mRNA.	9					apoptosis|protein K48-linked ubiquitination	integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				ACATTCCAGCAGAGAGTCCTGG	0.594													-	59483672	AG	-	59483671	7	5	82	1	0	1	0	1	0	0	0	0	13544	188	7	0	589	0	RNF152	18	59483671	Frame_Shift_Del	DEL	AG	TCGA-06-2565-01A-01D-1494-08	12130694	59483671	18593577	55	5466											
ZNF407	55628	broad.mit.edu	37	chr18	72345779	72345779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagctggtaaaaagaatgCtggctcagcagtgaccatgt	13	9	12	7	0	1	3	1	2	0	1	1	3	1	3	1	2	3	5	1	2	5	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr18:72345779C>T	uc002llw.2	+	0	2857	c.2804C>T	c.(2803-2805)gCt>gTt	p.A935V	ZNF407_uc010xfc.2_Missense_Mutation_p.A935V|ZNF407_uc010dqu.2_Missense_Mutation_p.A935V|ZNF407_uc002llu.2_Missense_Mutation_p.A934V	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	935					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		AAAAAGAATGCTGGCTCAGCA	0.453													T	72345779	C	T	72345779	3	4	82	1	0	0	0	0	1	0	0	0	17988	797	28	2	2806	2	ZNF407	18	72345779	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	12862108	72345779	5731469	56	5467											
TCF3	6929	broad.mit.edu	37	chr19	1623996	1623996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaccttcttgggctgcGtgtctgttagaagcaaaagg	8	11	13	9	2	2	1	0	0	2	1	3	2	3	2	2	3	2	3	2	3	4	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:1623996G>A	uc002ltr.3	-	7	572	c.503C>T	c.(502-504)aCg>aTg	p.T168M	TCF3_uc002lto.3_5'Flank|TCF3_uc002ltt.4_Missense_Mutation_p.T168M|TCF3_uc002ltq.3_Missense_Mutation_p.T117M|TCF3_uc002lts.1_Missense_Mutation_p.T84M	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	168					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding	p.T168M(2)		breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		CTTGGGCTGCGTGTCTGTTAG	0.612			T	"PBX1, HLF, TFPT"	pre B-ALL								A	1623996	G	A	1623996	3	1	82	1	0	0	0	0	1	0	0	0	15794	1145	40	1	1740	1	TCF3	19	1623996	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		1623996	57504987	57	5468											
ZNF506	440515	broad.mit.edu	37	chr19	19905675	19905675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccacattcgtcacatttgtAgggtacatctccagtatgaa	11	12	8	10	1	2	1	1	1	1	0	4	1	2	1	2	1	1	3	2	1	4	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:19905675A>G	uc010eci.2	-	3	1169	c.1021T>C	c.(1021-1023)Tac>Cac	p.Y341H	ZNF506_uc021urk.1_Non-coding_Transcript|ZNF506_uc002noh.3_Missense_Mutation_p.Y309H	NM_001099269	NP_001092739	Q5JVG8	ZN506_HUMAN	Homo sapiens zinc finger protein 506 (ZNF506), transcript variant 1, mRNA.	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						TCACATTTGTAGGGTACATCT	0.408													G	19905675	A	G	19905675	3	3	82	1	0	0	0	0	1	0	0	0	18053	420	15	3	317	3	ZNF506	19	19905675	Missense_Mutation	SNP	A	TCGA-06-2565-01A-01D-1494-08	18281679	19905675	39223308	58	5469											
CEACAM20	125931	broad.mit.edu	37	chr19	45015149	45015149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgagtgggggcatcagaGgtttgggtggtggcttccag	6	11	18	6	0	2	2	1	1	1	1	3	2	3	2	1	6	0	3	1	6	0	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:45015149G>T	uc010ejn.1	-	11	1692	c.1676C>A	c.(1675-1677)cCt>cAt	p.P559H	CEACAM20_uc010ejo.1_Missense_Mutation_p.P547H|CEACAM20_uc010ejp.1_Missense_Mutation_p.P466H|CEACAM20_uc010ejq.1_Missense_Mutation_p.P454H	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	559						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGGCATCAGAGGTTTGGGTGG	0.507													T	45015149	G	T	45015149	3	4	82	1	0	0	0	0	1	0	0	0	3221	1000	35	4	122	4	CEACAM20	19	45015149	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08	25109474	45015149	14113834	59	5470											
TFPT	29844	broad.mit.edu	37	chr19	54617886	54617886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgatttaattcccgctggCgccgccgccgaccccgggct	4	8	12	17	7	0	0	0	0	0	0	1	2	1	0	6	2	1	2	6	2	1	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr19:54617886C>T	uc010yej.1	-	1	624	c.218G>A	c.(217-219)cGc>cAc	p.R73H	TFPT_uc010erd.2_Missense_Mutation_p.R73H|PRPF31_uc002qdh.2_5'Flank|PRPF31_uc010yek.1_5'Flank|PRPF31_uc021vbi.1_5'Flank	NM_013342	NP_037474	P0C1Z6	TFPT_HUMAN	Homo sapiens TCF3 (E2A) fusion partner (in childhood Leukemia) (TFPT), mRNA.	73					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					TTCCCGCTGGCGCCGCCGCCG	0.652			T	TCF3	pre-B ALL								T	54617886	C	T	54617886	3	4	82	1	0	0	0	0	1	0	0	0	15910	768	27	1	563	1	TFPT	19	54617886	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	9602737	54617886	4511097	60	5471											
DNTTIP1	116092	broad.mit.edu	37	chr20	44431987	44431987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagatggaaaccaaaatcCtgtgaaccaattcgccggga	15	6	10	10	2	0	2	0	1	0	1	2	4	1	4	4	2	3	1	4	2	5	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr20:44431987C>A	uc002xpk.3	+	7	641	c.573C>A	c.(571-573)tcC>tcA	p.S191S		NM_052951	NP_443183	Q9H147	TDIF1_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal, interacting protein 1 (DNTTIP1), mRNA.	191						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				AACCAAAATCCTGTGAACCAA	0.493													A	44431987	C	A	44431987	2	1	82	1	0	0	0	0	0	0	0	1	4720	668	24	4		4	DNTTIP1	20	44431987	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08		44431987	18593533	61	5472											
UMODL1	89766	broad.mit.edu	37	chr21	43539379	43539379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagctgcatttctcacCgccttccagaccgtgcctct	5	12	8	16	2	3	1	2	0	2	1	5	1	4	1	5	0	3	2	5	0	0	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:43539379C>T	uc002zag.1	+	13	3018	c.3018C>T	c.(3016-3018)acC>acT	p.T1006T	UMODL1_uc002zad.1_Silent_p.T806T|UMODL1_uc002zae.1_Silent_p.T934T|UMODL1_uc002zaf.1_Silent_p.T878T|UMODL1_uc002zal.1_5'Flank	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	878	ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CATTTCTCACCGCCTTCCAGA	0.567													T	43539379	C	T	43539379	2	4	82	1	0	0	0	0	0	0	0	1	17082	639	23	1		1	UMODL1	21	43539379	Silent	SNP	C	TCGA-06-2565-01A-01D-1494-08		43539379	4590516	62	5473											
DNMT3L	29947	broad.mit.edu	37	chr21	45679526	45679526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctaccttacatggggCgcagatccctccctcaaaca	9	8	7	17	1	1	1	1	0	0	1	3	1	3	1	5	2	4	1	5	2	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr21:45679526C>T	uc002zeg.1	-	3	704	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	DNMT3L_uc002zeh.1_Missense_Mutation_p.A74T	NM_175867	NP_787063	Q9UJW3	DNM3L_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 3-like (DNMT3L), transcript variant 2, mRNA.	74	ADD.				DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		TTACATGGGGCGCAGATCCCT	0.542													T	45679526	C	T	45679526	3	4	82	1	0	0	0	0	1	0	0	0	4717	768	27	1	979	1	DNMT3L	21	45679526	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	2140147	45679526	2450369	63	5474											
INPP5J	27124	broad.mit.edu	37	chr22	31523358	31523358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggtaacaagggtggcGtgagcgtgcgcctggcggcc	6	6	18	11	4	0	1	0	1	0	0	0	1	0	1	3	5	3	1	3	5	3	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31523358G>A	uc003aju.4	+	5	1719	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M	INPP5J_uc003ajw.3_5'UTR|INPP5J_uc003ajt.4_Missense_Mutation_p.V175M|INPP5J_uc003ajv.4_Missense_Mutation_p.V176M|INPP5J_uc003ajs.4_Missense_Mutation_p.V176M|INPP5J_uc011alk.2_Missense_Mutation_p.V476M|INPP5J_uc010gwg.3_Missense_Mutation_p.V108M	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	543	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CAAGGGTGGCGTGAGCGTGCG	0.632													A	31523358	G	A	31523358	3	1	82	1	0	0	0	0	1	0	0	0	7817	1145	40	1	545	1	INPP5J	22	31523358	Missense_Mutation	SNP	G	TCGA-06-2565-01A-01D-1494-08		31523358	19781208	64	5475											
SFI1	9814	broad.mit.edu	37	chr22	31957290	31957290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagggtgtggtggagcaCgtggaggcagcgactaggac	9	6	18	8	2	1	0	1	0	0	0	1	4	1	3	0	6	2	2	0	6	1	1			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:31957290C>T	uc003ale.3	+	7	1070	c.677C>T	c.(676-678)aCg>aTg	p.T226M	SFI1_uc003ald.1_Missense_Mutation_p.T202M|SFI1_uc003alf.3_Missense_Mutation_p.T226M|SFI1_uc003alg.3_Missense_Mutation_p.T144M|SFI1_uc011alp.2_Missense_Mutation_p.T144M|SFI1_uc011alq.2_Missense_Mutation_p.T202M|SFI1_uc003alh.3_Non-coding_Transcript	NM_001007467	NP_001007468	A8K8P3	SFI1_HUMAN	Homo sapiens Sfi1 homolog, spindle assembly associated (yeast) (SFI1), transcript variant 1, mRNA.	226					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TGGTGGAGCACGTGGAGGCAG	0.572											OREG0026480	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	31957290	C	T	31957290	3	4	82	1	0	0	0	0	1	0	0	0	14249	536	19	1	703	1	SFI1	22	31957290	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	433932	31957290	19347276	65	5476											
GTSE1	51512	broad.mit.edu	37	chr22	46725343	46725343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcctctcatcgactTctgcgataccccagaagcac	9	10	6	16	2	2	2	1	1	2	1	5	4	3	2	4	0	3	1	4	0	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chr22:46725343T>C	uc011aqy.2	+	10	2227	c.2015T>C	c.(2014-2016)tTc>tCc	p.F672S	GTSE1_uc011aqz.2_Missense_Mutation_p.F519S|GTSE1_uc003bhn.3_Non-coding_Transcript|BC069212_uc011ara.2_5'Flank|BC069212_uc003bho.4_5'Flank	NM_016426	NP_057510	Q9NYZ3	GTSE1_HUMAN	Homo sapiens G-2 and S-phase expressed 1 (GTSE1), mRNA.	653					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CTCATCGACTTCTGCGATACC	0.498													C	46725343	T	C	46725343	3	2	82	1	0	0	0	0	1	0	0	0	6940	1783	62	3	2053	3	GTSE1	22	46725343	Missense_Mutation	SNP	T	TCGA-06-2565-01A-01D-1494-08	14768053	46725343	4579223	66	5477											
CNKSR2	22866	broad.mit.edu	37	chrX	21450738	21450739	+	Frame_Shift_Ins	INS	-	-	T																															ttataattcagaattatggcINSttggaaacagaaaatctaaa																										TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:21450738_21450739insT	uc004czx.2	+	2	717_718	c.237_238insT	c.(235-240)ggcttgfs	p.G79fs	CNKSR2_uc004czw.3_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjn.2_Frame_Shift_Ins_p.G79fs|CNKSR2_uc011mjo.2_Frame_Shift_Ins_p.G79fs	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	79					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGAATTATGGCTTGGAAACAGA	0.307													T	21450739	-	T	21450738	7	5	82	1	0	1	1	0	0	0	0	0	3638	784	28	0	247	0	CNKSR2	23	21450738	Frame_Shift_Ins	INS	-	TCGA-06-2565-01A-01D-1494-08		21450738	133819822	67	5478											
SMC1A	8243	broad.mit.edu	37	chrX	53430549	53430549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttcttcctcaaactccCggatgttgcgcacaccaatc	8	12	5	16	2	2	0	1	0	1	0	5	1	4	1	4	1	2	2	4	1	2	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53430549C>T	uc004dsg.3	-	14	2438	c.2369G>A	c.(2368-2370)cGg>cAg	p.R790Q	SMC1A_uc011moe.2_Missense_Mutation_p.R768Q	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	790			R -> Q (in CDLS2).		cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.R790Q(4)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTCAAACTCCCGGATGTTGCG	0.517													T	53430549	C	T	53430549	3	4	82	1	0	0	0	0	1	0	0	0	14875	652	23	1	1376	1	SMC1A	23	53430549	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	31979811	53430549	101840011	68	5479											
SMC1A	8243	broad.mit.edu	37	chrX	53438785	53438785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtctcgattgaatttctCcagctcctgggccagggtag	6	12	12	11	1	2	1	0	1	2	0	5	2	3	1	3	3	1	2	3	3	2	3			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:53438785C>T	uc004dsg.3	-	6	1249	c.1180G>A	c.(1180-1182)Gag>Aag	p.E394K	SMC1A_uc011moe.2_Missense_Mutation_p.E372K|SMC1A_uc011mof.2_Missense_Mutation_p.E160K	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	394					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTGAATTTCTCCAGCTCCTGG	0.498													T	53438785	C	T	53438785	3	4	82	1	0	0	0	0	1	0	0	0	14875	864	30	2	2597	2	SMC1A	23	53438785	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	8236	53438785	101831775	69	5480											
FRMD7	90167	broad.mit.edu	37	chrX	131212246	131212246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctgacccaaaaggaaaaCgaatagttttcatgtctgat	15	12	7	7	1	3	2	1	2	2	0	3	4	3	3	1	1	1	1	1	1	6	4			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:131212246C>T	uc004ewn.3	-	11	1977	c.1799G>A	c.(1798-1800)cGt>cAt	p.R600H	FRMD7_uc022cdy.1_Missense_Mutation_p.R480H|FRMD7_uc011muy.2_Missense_Mutation_p.R585H	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	600					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AAAAGGAAAACGAATAGTTTT	0.428													T	131212246	C	T	131212246	3	4	82	1	0	0	0	0	1	0	0	0	6107	536	19	1	349	1	FRMD7	23	131212246	Missense_Mutation	SNP	C	TCGA-06-2565-01A-01D-1494-08	77773461	131212246	24058314	70	5481											
MAP7D3	79649	broad.mit.edu	37	chrX	135301831	135301831	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattcttttggaagatggtCtggaaagagacagtttggtt	10	15	12	4	0	3	2	1	0	2	2	3	5	3	4	0	4	0	2	0	4	2	5			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:135301831C>T	uc004ezt.3	-	17	2708	c.2487_splice	c.e17-1	p.R829_splice	MAP7D3_uc004ezs.3_Splice_Site_p.R794_splice|MAP7D3_uc011mwc.2_Splice_Site_p.R811_splice|MAP7D3_uc010nsa.2_Intron	NM_024597	NP_078873	Q8IWC1	MA7D3_HUMAN	Homo sapiens MAP7 domain containing 3 (MAP7D3), transcript variant 1, mRNA.	829						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					GGAAGATGGTCTGGAAAGAGA	0.418													T	135301831	C	T	135301831	5	4	82	1	0	0	0	0	0	0	1	0	9344	927	32	2	152	2	MAP7D3	23	135301831	Splice_Site	SNP	C	TCGA-06-2565-01A-01D-1494-08	4089585	135301831	19968729	71	5482											
AFF2	2334	broad.mit.edu	37	chrX	148038125	148038125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaaaccagcccctaaGggcaaacgtaagcacaaggt	15	4	12	10	1	0	1	0	0	0	1	0	2	0	1	3	3	4	3	3	3	5	2			TCGA-06-2565-01A-01D-1494-08	TCGA-06-2565-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c866726d-2d95-4d23-b3d4-0e28a0b3da00	0dbed582-3fce-4c02-a12d-23da05d43a3e	g.chrX:148038125G>A	uc004fcp.3	+	10	3029	c.2550G>A	c.(2548-2550)aaG>aaA	p.K850K	AFF2_uc004fcq.3_Silent_p.K840K|AFF2_uc004fcr.3_Silent_p.K811K|AFF2_uc011mxb.2_Silent_p.K815K|AFF2_uc004fcs.3_Silent_p.K817K|AFF2_uc011mxc.2_Silent_p.K491K	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	850					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding	p.P849H(1)		breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CAGCCCCTAAGGGCAAACGTA	0.517													A	148038125	G	A	148038125	2	1	82	1	0	0	0	0	0	0	0	1	357	991	35	2		2	AFF2	23	148038125	Silent	SNP	G	TCGA-06-2565-01A-01D-1494-08	12736294	148038125	7232435	72	5483											
GBP4	115361	broad.mit.edu	37	chr1	89655829	89655829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtccagcagctcctggagCgtgtctgtggggagcctcag	6	8	15	12	2	2	0	1	0	1	0	4	2	4	2	3	3	4	2	3	3	0	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:89655829C>T	uc001dnb.3	-	6	1205	c.1089G>A	c.(1087-1089)acG>acA	p.T363T		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	363						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		GCTCCTGGAGCGTGTCTGTGG	0.577													T	89655829	C	T	89655829	2	4	83	1	0	0	0	0	0	0	0	1	6330	755	27	1		1	GBP4	1	89655829	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		89655829	159594792	1	5484											
TCHH	7062	broad.mit.edu	37	chr1	152082760	152082760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgccttctcttctccGgttcctctcccagcagctgc	2	12	8	19	2	3	0	0	0	3	0	7	0	4	0	5	2	3	3	5	2	0	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:152082760G>A	uc009wne.1	-	2	3205	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	TCHH_uc001ezp.2_Missense_Mutation_p.P978L	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	978	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			tctcttctccggttcctctcc	0.557													A	152082760	G	A	152082760	3	1	83	1	0	0	0	0	1	0	0	0	15800	1116	39	1	2902	1	TCHH	1	152082760	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	62426931	152082760	97167861	2	5485											
TOMM20	9804	broad.mit.edu	37	chr1	235291954	235291954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggtcacttcgtcttttgCggtcgaagtagatgcagtac	7	13	13	8	3	2	1	1	0	1	1	4	2	2	1	0	3	3	3	0	3	3	5	rs1130507		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:235291954C>T	uc001hwl.3	-	0	303	c.77G>A	c.(76-78)cGc>cAc	p.R26H	SNORA14B_uc001hwm.1_5'Flank	NM_014765	NP_055580	Q15388	TOM20_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 20 homolog (yeast) (TOMM20), nuclear gene encoding mitochondrial protein, mRNA.	26					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|unfolded protein binding			lung(2)|prostate(1)	3	Ovarian(103;0.0398)	all_cancers(173;0.177)|Prostate(94;0.0166)	OV - Ovarian serous cystadenocarcinoma(106;6.33e-05)|Epithelial(3;8.26e-05)			TCGTCTTTTGCGGTCGAAGTA	0.597													T	235291954	C	T	235291954	3	4	83	1	0	0	0	0	1	0	0	0	16454	768	27	1	380	1	TOMM20	1	235291954	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	83209194	235291954	13958667	3	5486											
OR2M5	127059	broad.mit.edu	37	chr1	248308935	248308935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaatcattgatgctgtagcGacattttccttctcctactg	8	15	7	11	1	2	1	1	1	1	0	4	2	3	1	2	0	3	3	2	0	3	6	rs138472974	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248308935G>A	uc010pze.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			ATGCTGTAGCGACATTTTCCT	0.448													A	248308935	G	A	248308935	2	1	83	1	0	0	0	0	0	0	0	1	11089	1045	37	1		1	OR2M5	1	248308935	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	13016981	248308935	941686	4	5487											
OR2M3	127062	broad.mit.edu	37	chr1	248367072	248367072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggatctggagagggtcgtCgcaaagcttttactacttgt	8	13	13	7	2	1	1	0	0	1	1	3	3	1	2	0	3	3	2	0	3	3	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr1:248367072C>T	uc010pzg.2	+	0	703	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R235H(2)|p.R235C(2)		endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			AGAGGGTCGTCGCAAAGCTTT	0.473													T	248367072	C	T	248367072	3	4	83	1	0	0	0	0	1	0	0	0	11087	884	31	1	705	1	OR2M3	1	248367072	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	58137	248367072	883549	5	5488											
PROC	5624	broad.mit.edu	37	chr2	128177527	128177527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcctccagaatgtggcaGctcacaagcctcctgctgtt	8	10	10	13	0	1	1	1	0	0	1	3	1	3	1	4	1	4	4	4	1	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:128177527G>A	uc002tol.3	+	1	99	c.72G>A	c.(70-72)caG>caA	p.Q24Q	PROC_uc002tok.3_Silent_p.Q3Q|PROC_uc010yzi.2_Silent_p.Q24Q|PROC_uc010yzj.2_5'UTR|PROC_uc010yzk.2_Silent_p.Q24Q	NM_000312	NP_000303	P04070	PROC_HUMAN	Homo sapiens protein C (inactivator of coagulation factors Va and VIIIa) (PROC), mRNA.	3					blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GAATGTGGCAGCTCACAAGCC	0.652													A	128177527	G	A	128177527	2	1	83	1	0	0	0	0	0	0	0	1	12631	962	34	2		2	PROC	2	128177527	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08		128177527	115021846	6	5489											
SPEG	10290	broad.mit.edu	37	chr2	220349266	220349266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcgctcggaggagcgcGgccccttccgtggggccgag	3	6	18	14	7	0	0	0	0	0	0	3	3	1	2	4	5	1	2	4	5	0	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:220349266G>A	uc010fwg.3	+	29	7081	c.7081G>A	c.(7081-7083)Ggc>Agc	p.G2361S		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2361	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGAGGAGCGCGGCCCCTTCCG	0.731													A	220349266	G	A	220349266	3	1	83	1	0	0	0	0	1	0	0	0	15132	1116	39	1	7211	1	SPEG	2	220349266	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	92171739	220349266	22850107	7	5490											
IQCA1	79781	broad.mit.edu	37	chr2	237374203	237374203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttctccttgatatccaCgccttctatcaactttaggt	9	15	6	11	1	3	1	1	1	2	0	5	1	4	1	3	2	1	1	3	2	5	7			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr2:237374203C>T	uc002vwb.2	-	5	926	c.892G>A	c.(892-894)Gtg>Atg	p.V298M	IQCA1_uc002vvz.1_Missense_Mutation_p.V291M|IQCA1_uc002vwa.1_Non-coding_Transcript|IQCA1_uc010zni.1_Missense_Mutation_p.V291M	NM_024726	NP_079002	Q86XH1	IQCA1_HUMAN	Homo sapiens IQ motif containing with AAA domain 1 (IQCA1), mRNA.	291							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTGATATCCACGCCTTCTATC	0.473													T	237374203	C	T	237374203	3	4	83	1	0	0	0	0	1	0	0	0	7860	536	19	1	1653	1	IQCA1	2	237374203	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	17024937	237374203	5825170	8	5491											
CSPG5	10675	broad.mit.edu	37	chr3	47619240	47619240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgccggtcaccgcagcCgactcctgcagcacctcttc	5	7	11	18	4	2	0	1	0	1	0	4	1	3	0	5	2	4	3	5	2	0	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:47619240C>T	uc003crp.4	-	1	452	c.276G>A	c.(274-276)tcG>tcA	p.S92S	CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Silent_p.S92S|CSPG5_uc021wxh.1_Silent_p.S92S|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	92					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TCACCGCAGCCGACTCCTGCA	0.726													T	47619240	C	T	47619240	2	4	83	1	0	0	0	0	0	0	0	1	3994	639	23	1		1	CSPG5	3	47619240	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		47619240	150403190	9	5492											
OR5K1	26339	broad.mit.edu	37	chr3	98188663	98188663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctattacccccaaaatGttagagaacttcttttctga	11	15	6	9	0	2	2	0	1	2	1	2	3	2	2	2	0	3	2	2	0	6	6			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:98188663G>A	uc003dsm.3	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CCCCCAAAATGTTAGAGAACT	0.413													A	98188663	G	A	98188663	3	1	83	1	0	0	0	0	1	0	0	0	11242	1377	48	2	245	2	OR5K1	3	98188663	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	50569423	98188663	99833767	10	5493											
SLC15A2	6565	broad.mit.edu	37	chr3	121647354	121647354	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaaggtgacagtggtGggaaatgaaaacaattctct	14	9	14	4	0	1	3	0	3	1	0	2	5	1	4	0	4	1	0	0	4	5	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:121647354G>T	uc003eep.2	+	14	1446	c.1293G>T	c.(1291-1293)gtG>gtT	p.V431V	SLC15A2_uc011bjn.1_Silent_p.V400V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	431					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TGACAGTGGTGGGAAATGAAA	0.443													T	121647354	G	T	121647354	2	4	83	1	0	0	0	0	0	0	0	1	14493	1335	47	4		4	SLC15A2	3	121647354	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	23458691	121647354	76375076	11	5494											
COPB2	9276	broad.mit.edu	37	chr3	139098010	139098010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacactctaatctgcatGtcatcctagaaacagaaatt	15	12	5	9	0	3	3	1	1	2	2	4	3	4	3	1	0	3	1	1	0	5	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr3:139098010G>A	uc003etf.4	-	3	364	c.234C>T	c.(232-234)gaC>gaT	p.D78D	COPB2_uc011bmv.2_Silent_p.D49D|COPB2_uc010hui.3_Silent_p.D49D|COPB2_uc011bmw.1_Silent_p.D78D	NM_004766	NP_004757	P35606	COPB2_HUMAN	Homo sapiens coatomer protein complex, subunit beta 2 (beta prime) (COPB2), transcript variant 1, mRNA.	78					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TAATCTGCATGTCATCCTAGA	0.363													A	139098010	G	A	139098010	2	1	83	1	0	0	0	0	0	0	0	1	3760	1368	48	2		2	COPB2	3	139098010	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	17450656	139098010	58924420	12	5495											
BST1	683	broad.mit.edu	37	chr4	15717416	15717416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgcatgaaattgggggacCcaatgtgtaagttatggtga	12	12	13	4	0	0	2	0	2	0	0	0	3	0	3	1	3	1	3	1	3	5	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:15717416C>G	uc003goh.4	+	5	893	c.698C>G	c.(697-699)cCc>cGc	p.P233R		NM_004334	NP_004325	Q10588	BST1_HUMAN	Homo sapiens bone marrow stromal cell antigen 1 (BST1), mRNA.	233					humoral immune response|multicellular organismal development	anchored to membrane|extrinsic to membrane|plasma membrane	binding|NAD+ nucleosidase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|stomach(3)|urinary_tract(1)	8						ATTGGGGGACCCAATGTGTAA	0.328													G	15717416	C	G	15717416	3	3	83	1	0	0	0	0	1	0	0	0	1542	623	22	4	720	4	BST1	4	15717416	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		15717416	175436860	13	5496											
AREG	374	broad.mit.edu	37	chr4	75312298	75312298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacacctactctgggaagCgtgaaccattttctggggac	10	10	11	10	1	2	2	0	2	2	0	2	4	2	4	2	3	3	0	2	3	3	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:75312298C>T	uc021xpc.1	+	1	319	c.109C>T	c.(109-111)Cgt>Tgt	p.R37C		NM_001657	NP_001648	P15514	AREG_HUMAN	Homo sapiens amphiregulin (AREG), mRNA.	37					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			CTCTGGGAAGCGTGAACCATT	0.483													T	75312298	C	T	75312298	3	4	83	1	0	0	0	0	1	0	0	0	846	768	27	1	115	1	AREG	4	75312298	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	59594882	75312298	115841978	14	5497											
ADH6	130	broad.mit.edu	37	chr4	100130080	100130080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacaggtagaacctggAgtcacctaaacacatacagg	16	5	9	11	0	1	1	1	0	0	1	1	2	1	2	2	3	4	2	2	3	5	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr4:100130080A>G	uc003huo.2	-	5	667	c.573T>C	c.(571-573)acT>acC	p.T191T	LOC100507053_uc003hum.2_Intron|ADH6_uc011cef.1_5'UTR|ADH6_uc003hup.4_Silent_p.T191T|ADH6_uc010ile.3_Silent_p.T191T	NM_001102470	NP_001095940	P28332	ADH6_HUMAN	Homo sapiens alcohol dehydrogenase 6 (class V) (ADH6), transcript variant 1, mRNA.	191					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	TAGAACCTGGAGTCACCTAAA	0.458													G	100130080	A	G	100130080	2	3	83	1	0	0	0	0	0	0	0	1	312	291	11	3		3	ADH6	4	100130080	Silent	SNP	A	TCGA-06-2567-01A-01D-1494-08	24817782	100130080	91024196	15	5498											
ITGA1	3672	broad.mit.edu	37	chr5	52183784	52183784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgaaaacattcaacGgttttccatagctgtaagtg	14	12	9	6	1	1	3	1	2	0	1	2	3	2	3	1	1	3	3	1	1	6	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr5:52183784G>A	uc003jou.3	+	7	1325	c.911G>A	c.(910-912)cGg>cAg	p.R304Q	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	304	VWFA.				axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AACATTCAACGGTTTTCCATA	0.388													A	52183784	G	A	52183784	3	1	83	1	0	0	0	0	1	0	0	0	7930	1116	39	1	941	1	ITGA1	5	52183784	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		52183784	128731476	16	5499											
DSP	1832	broad.mit.edu	37	chr6	7569486	7569486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcaagtggtacgtgaCgggcccgggaggcgttgaca	8	5	18	10	5	0	2	0	2	0	0	0	3	0	3	1	4	2	4	1	4	2	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:7569486C>T	uc003mxp.1	+	11	1766	c.1487C>T	c.(1486-1488)aCg>aTg	p.T496M	DSP_uc003mxq.1_Missense_Mutation_p.T496M|DSP_uc021yle.1_Missense_Mutation_p.T496M	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	496	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGGTACGTGACGGGCCCGGGA	0.552													T	7569486	C	T	7569486	3	4	83	1	0	0	0	0	1	0	0	0	4820	536	19	1	1533	1	DSP	6	7569486	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		7569486	163545581	17	5500											
COL11A2	1302	broad.mit.edu	37	chr6	33153497	33153497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgataatcaggggttgtcCccgtagtcatcacatcataa	11	11	8	11	1	4	1	4	1	0	0	5	1	5	1	3	2	0	2	3	2	3	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:33153497C>T	uc003ocx.1	-	5	1085	c.857G>A	c.(856-858)gGg>gAg	p.G286E	COL11A2_uc003ocy.1_Intron|COL11A2_uc003ocz.1_Intron	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	286	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						AGGGGTTGTCCCCGTAGTCAT	0.542													T	33153497	C	T	33153497	3	4	83	1	0	0	0	0	1	0	0	0	3699	623	22	2	4597	2	COL11A2	6	33153497	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	25584011	33153497	137961570	18	5501											
ASCC3	10973	broad.mit.edu	37	chr6	101054729	101054729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctaatgtgcttgtagcaAtaagaacctaaaaagcaaaa	19	8	8	6	0	0	1	0	0	0	1	0	1	0	1	1	1	4	5	1	1	10	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:101054729A>G	uc003pqk.3	-	31	5260	c.4931T>C	c.(4930-4932)aTt>aCt	p.I1644T		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1644	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GCTTGTAGCAATAAGAACCTA	0.294													G	101054729	A	G	101054729	3	3	83	1	0	0	0	0	1	0	0	0	1038	101	4	3	1721	3	ASCC3	6	101054729	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	67901232	101054729	70060338	19	5502											
CITED2	10370	broad.mit.edu	37	chr6	139694947	139694947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagggcgttgaaggcgtgCtggggctgctgctgctggtg	4	11	19	7	2	0	1	0	1	0	0	0	1	0	1	0	5	4	6	0	5	2	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr6:139694947C>T	uc021zfz.1	-	1	225	c.135G>A	c.(133-135)caG>caA	p.Q45Q	CITED2_uc021zga.1_Silent_p.Q45Q|CITED2_uc003qip.1_Silent_p.Q45Q|CITED2_uc021zgb.1_Silent_p.Q45Q	NM_001168389	NP_006070	Q99967	CITE2_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2 (CITED2), transcript variant 3, mRNA.	45	His-rich.				adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		TGAAGGCGTGCTGGGGCTGCT	0.662													T	139694947	C	T	139694947	2	4	83	1	0	0	0	0	0	0	0	1	3471	796	28	2		2	CITED2	6	139694947	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	38640218	139694947	31420120	20	5503											
HOXA6	3203	broad.mit.edu	37	chr7	27185382	27185382	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggttctggaaccagatcttGatctggcgctcggtgaggca	7	10	14	10	3	3	3	0	2	3	1	4	4	3	4	1	5	1	3	1	5	1	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:27185382G>C	uc003syo.2	-	1	622	c.597C>G	c.(595-597)atC>atG	p.I199M	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						ACCAGATCTTGATCTGGCGCT	0.597													C	27185382	G	C	27185382	3	2	83	1	0	0	0	0	1	0	0	0	7351	1280	45	4	108	4	HOXA6	7	27185382	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		27185382	131953281	21	5504											
COBL	23242	broad.mit.edu	37	chr7	51096735	51096735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcgttggtgccatgaTgttggtgccaaggcagcgtt	5	12	15	9	2	0	1	0	1	0	0	1	1	0	1	3	4	3	4	3	4	1	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:51096735T>C	uc003tps.3	-	10	2414	c.2229A>G	c.(2227-2229)acA>acG	p.T743T	COBL_uc003tpr.4_Silent_p.T686T|COBL_uc011kcl.2_Silent_p.T686T|COBL_uc003tpp.4_Silent_p.T472T|COBL_uc003tpq.4_Silent_p.T627T|COBL_uc003tpo.4_Silent_p.T228T	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	686										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGTGCCATGATGTTGGTGCCA	0.498													C	51096735	T	C	51096735	2	2	83	1	0	0	0	0	0	0	0	1	3684	1451	51	3		3	COBL	7	51096735	Silent	SNP	T	TCGA-06-2567-01A-01D-1494-08	23911353	51096735	108041928	22	5505											
POM121L12	285877	broad.mit.edu	37	chr7	53104084	53104084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcctctgaagccgagcctCggcccctggagcctcagttt	5	8	13	15	2	2	1	1	1	1	0	3	3	2	2	6	3	3	1	6	3	1	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:53104084C>T	uc003tpz.3	+	0	736	c.720C>T	c.(718-720)ctC>ctT	p.L240L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	240								p.S239T(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						AGCCGAGCCTCGGCCCCTGGA	0.647													T	53104084	C	T	53104084	2	4	83	1	0	0	0	0	0	0	0	1	12318	871	31	1		1	POM121L12	7	53104084	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	2007349	53104084	106034579	23	5506											
EGFR	1956	broad.mit.edu	37	chr7	55233036	55233036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccactgcgtcaagacctgcCcggcaggagtcatgggagaa	10	5	13	13	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:55233036C>T	uc003tqk.3	+	14	2032	c.1786C>T	c.(1786-1788)Ccg>Tcg	p.P596S	EGFR_uc003tqi.3_Missense_Mutation_p.P596S|EGFR_uc003tqj.3_Missense_Mutation_p.P596S|EGFR_uc022adm.1_Missense_Mutation_p.P596S|EGFR_uc010kzg.2_Missense_Mutation_p.P551S|EGFR_uc022adn.1_Missense_Mutation_p.P551S|EGFR_uc011kco.2_Missense_Mutation_p.P543S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGACCTGCCCGGCAGGAGT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233036	C	T	55233036	3	4	83	1	0	0	0	0	1	0	0	0	5006	623	22	2	1855	2	EGFR	7	55233036	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	2128952	55233036	103905627	24	5507											
CALN1	83698	broad.mit.edu	37	chr7	71571150	71571150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaccgtccatgtccaagCgctgcatgatgatggccagc	8	10	10	13	2	1	2	0	2	1	0	3	2	3	2	4	1	4	2	4	1	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:71571150C>T	uc003twb.4	-	3	765	c.374G>A	c.(373-375)cGc>cAc	p.R125H	CALN1_uc003twa.4_Missense_Mutation_p.R83H|CALN1_uc003twc.4_Missense_Mutation_p.R83H	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	83						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.W124C(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGTCCAAGCGCTGCATGAT	0.587													T	71571150	C	T	71571150	3	4	83	1	0	0	0	0	1	0	0	0	2617	768	27	1	427	1	CALN1	7	71571150	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	16338114	71571150	87567513	25	5508											
SLC26A5	375611	broad.mit.edu	37	chr7	103050930	103050930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagctgctgcggtggtaaAcccacggaccagaggctctg	9	6	13	13	2	1	1	0	0	1	1	1	2	1	2	2	4	4	4	2	4	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:103050930A>T	uc003vbz.3	-	6	899	c.637T>A	c.(637-639)Ttt>Att	p.F213I	SLC26A5_uc003vbt.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbu.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbv.2_Missense_Mutation_p.F213I|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F213I	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	213					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						GCGGTGGTAAACCCACGGACC	0.408													T	103050930	A	T	103050930	3	4	83	1	0	0	0	0	1	0	0	0	14614	43	2	5	1694	5	SLC26A5	7	103050930	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	31479780	103050930	56087733	26	5509											
COPG2	26958	broad.mit.edu	37	chr7	130297070	130297070	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcttgggcttcattgaTccagcgcttaaccacatcat	9	13	7	12	1	3	1	2	1	1	0	4	1	4	1	2	1	3	3	2	1	1	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr7:130297070T>C	uc003vqh.1	-	7	622	c.532A>G	c.(532-534)Atc>Gtc	p.I178V		NM_012133	NP_036265	Q9UBF2	COPG2_HUMAN	Homo sapiens coatomer protein complex, subunit gamma 2 (COPG2), mRNA.	178					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat	protein binding|structural molecule activity			large_intestine(1)	1	Melanoma(18;0.0435)					GCTTCATTGATCCAGCGCTTA	0.353													C	130297070	T	C	130297070	3	2	83	1	0	0	0	0	1	0	0	0	3763	1435	50	3	698	3	COPG2	7	130297070	Missense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08	27246140	130297070	28841593	27	5510											
SH2D4A	63898	broad.mit.edu	37	chr8	19177081	19177081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaacagatactgtcggAgatgtacatagatcctgatc	13	10	10	8	1	0	5	0	2	0	3	3	6	1	5	1	1	3	2	1	1	4	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:19177081A>G	uc003wzc.3	+	1	331	c.23A>G	c.(22-24)gAg>gGg	p.E8G	SH2D4A_uc003wzb.3_Missense_Mutation_p.E8G|SH2D4A_uc011kym.2_Intron	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	8						cytoplasm|nucleus	protein binding	p.S7L(1)		endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		ATACTGTCGGAGATGTACATA	0.463													G	19177081	A	G	19177081	3	3	83	1	0	0	0	0	1	0	0	0	14328	304	11	3	75	3	SH2D4A	8	19177081	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08		19177081	127186941	28	5511											
PREX2	80243	broad.mit.edu	37	chr8	69030839	69030839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaccagcatctgcagcagCcagtgcagctcgtatttcca	9	10	8	14	1	2	0	1	0	1	0	4	0	3	0	3	0	6	6	3	0	1	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:69030839C>A	uc003xxv.1	+	26	3408	c.3381C>A	c.(3379-3381)agC>agA	p.S1127R		NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	1127					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TCTGCAGCAGCCAGTGCAGCT	0.463													A	69030839	C	A	69030839	3	1	83	1	0	0	0	0	1	0	0	0	12563	738	26	4	3716	4	PREX2	8	69030839	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	49853758	69030839	77333183	29	5512											
CSMD3	114788	broad.mit.edu	37	chr8	113529374	113529374	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacattgaaaaacaacagTgtccccaggttctcttccat	12	11	6	12	0	2	1	1	1	1	0	5	1	4	1	3	1	2	1	3	1	3	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:113529374T>A	uc003ynu.3	-	27	4804	c.4645A>T	c.(4645-4647)Act>Tct	p.T1549S	CSMD3_uc003yns.3_Missense_Mutation_p.T821S|CSMD3_uc003ynt.3_Missense_Mutation_p.T1509S|CSMD3_uc011lhx.2_Missense_Mutation_p.T1445S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1549	Sushi 8.					integral to membrane|plasma membrane		p.D1548fs*19(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAACAACAGTGTCCCCAGGT	0.498										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113529374	T	A	113529374	3	1	83	1	0	0	0	0	1	0	0	0	3979	1696	59	5	6654	5	CSMD3	8	113529374	Missense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08	44498535	113529374	32834648	30	5513											
SAMD12	401474	broad.mit.edu	37	chr8	119391929	119391929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgtcagtaagtctcagCagggctcgccctgcagggtt	6	13	12	10	1	2	0	2	0	1	0	4	0	2	0	1	2	2	5	1	2	1	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:119391929C>T	uc003yom.2	-	3	462	c.333G>A	c.(331-333)ctG>ctA	p.L111L	SAMD12_uc010mda.1_Silent_p.L111L|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	111	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAAGTCTCAGCAGGGCTCGCC	0.488													T	119391929	C	T	119391929	2	4	83	1	0	0	0	0	0	0	0	1	13908	697	25	2		2	SAMD12	8	119391929	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	5862555	119391929	26972093	31	5514											
COL22A1	169044	broad.mit.edu	37	chr8	139791753	139791753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacagcaacactcaccCgcatgccgacctcacccggc	10	4	7	20	3	3	0	3	0	0	0	3	1	3	0	4	1	4	3	4	1	1	0	rs149163176	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr8:139791753C>T	uc003yvd.3	-	14	2151	c.1704_splice	c.e14+1	p.R568_splice		NM_152888	NP_690848	Q8NFW1	COMA1_HUMAN	Homo sapiens collagen, type XXII, alpha 1 (COL22A1), mRNA.	568	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AACACTCACCCGCATGCCGAC	0.592										HNSCC(7;0.00092)			T	139791753	C	T	139791753	3	4	83	1	0	0	0	0	1	0	0	0	3712	666	23	1	3385	1	COL22A1	8	139791753	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	20399824	139791753	6572269	32	5515											
DMRT1	1761	broad.mit.edu	37	chr9	842164	842164	+	Frame_Shift_Del	DEL	C	C	-																															caagaagtgcaacctgatcgCcgagaggcagcgcgtgatgg																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:842164delC	uc003zgv.3	+	0	475	c.326delC	c.(325-327)gccfs	p.A109fs	DMRT1_uc003zgu.1_Frame_Shift_Del_p.A109fs	NM_021951	NP_068770	Q9Y5R6	DMRT1_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 1 (DMRT1), mRNA.	109					cell differentiation|male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		AACCTGATCGCCGAGAGGCAG	0.592													-	842164	C	-	842164	7	5	83	1	0	1	0	1	0	0	0	0	4624	739	26	0	328	0	DMRT1	9	842164	Frame_Shift_Del	DEL	C	TCGA-06-2567-01A-01D-1494-08		842164	140371267	33	5516											
CNTNAP3	79937	broad.mit.edu	37	chr9	39078395	39078396	+	Frame_Shift_Del	DEL	AG	AG	-																															ttgttacctccgatgacagcAgagtctcttctgtctgcatt																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:39078395_39078396delAG	uc004abi.3	-	22	3970_3971	c.3731_3732delCT	c.(3730-3732)tctfs	p.S1244fs	CNTNAP3_uc004abj.3_Frame_Shift_Del_p.S1163fs|CNTNAP3_uc011lqr.2_Non-coding_Transcript	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	1244					cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CGATGACAGCAGAGTCTCTTCT	0.436													-	39078396	AG	-	39078395	7	5	83	1	0	1	0	1	0	0	0	0	3679	175	7	0	142	0	CNTNAP3	9	39078395	Frame_Shift_Del	DEL	AG	TCGA-06-2567-01A-01D-1494-08	38236231	39078395	102135036	34	5517											
OR1N1	138883	broad.mit.edu	37	chr9	125289116	125289116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacgtgtgagtcagggcaaCgatattggtgaggacccagc	11	7	15	8	2	1	2	1	2	0	0	1	5	1	3	1	3	3	1	1	3	3	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:125289116C>T	uc004bmn.1	-	0	457	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_012363	NP_036495	Q8NGS0	OR1N1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily N, member 1 (OR1N1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GTCAGGGCAACGATATTGGTG	0.537													T	125289116	C	T	125289116	3	4	83	1	0	0	0	0	1	0	0	0	11045	536	19	1	482	1	OR1N1	9	125289116	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	86210721	125289116	15924315	35	5518											
DBH	1621	broad.mit.edu	37	chr9	136508597	136508597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatggaagtcttccagtgCgcccccgagatggacagcgt	9	7	12	13	3	1	1	0	0	1	1	2	4	2	3	3	2	2	0	3	2	1	1	rs141816448		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr9:136508597C>T	uc004cel.3	+	3	816	c.807C>T	c.(805-807)tgC>tgT	p.C269C		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	269					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding	p.C269C(2)		central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	TCTTCCAGTGCGCCCCCGAGA	0.662													T	136508597	C	T	136508597	2	4	83	1	0	0	0	0	0	0	0	1	4284	776	27	1		1	DBH	9	136508597	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	11219481	136508597	4704834	36	5519											
DLG5	9231	broad.mit.edu	37	chr10	79581860	79581860	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagctctgagggaatacCtaggcagggattgcagagga	12	6	17	6	0	1	2	0	1	1	1	1	7	1	6	1	5	3	3	1	5	3	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:79581860C>G	uc001jzk.3	-	15	2453	c.2383_splice	c.e15-1	p.V795_splice	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Splice_Site|DLG5_uc001jzl.4_Splice_Site_p.V399_splice	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	795	PDZ 2.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			GAGGGAATACCTAGGCAGGGA	0.512													G	79581860	C	G	79581860	5	3	83	1	0	0	0	0	0	0	1	0	4597	695	24	4	3449	4	DLG5	10	79581860	Splice_Site	SNP	C	TCGA-06-2567-01A-01D-1494-08		79581860	55952887	37	5520											
HSPA12A	259217	broad.mit.edu	37	chr10	118464692	118464692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatgcattccggctccttgGtgaagctgtaggcatagcca	8	10	13	10	1	0	1	0	1	0	0	2	2	2	2	3	4	3	5	3	4	3	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr10:118464692G>A	uc001lct.3	-	2	329	c.224C>T	c.(223-225)aCc>aTc	p.T75I	HSPA12A_uc001lcu.3_5'UTR	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	75							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CGGCTCCTTGGTGAAGCTGTA	0.582													A	118464692	G	A	118464692	3	1	83	1	0	0	0	0	1	0	0	0	7461	1261	44	2	1843	2	HSPA12A	10	118464692	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	38882832	118464692	17070055	38	5521											
DNHD1	144132	broad.mit.edu	37	chr11	6589084	6589084	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaactggctgccaagtaTcagcaggtttgaacctagtt	12	10	10	9	0	1	2	1	1	0	1	1	2	1	2	2	2	4	5	2	2	5	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:6589084T>G	uc001mdw.4	+	35	12909	c.12345T>G	c.(12343-12345)taT>taG	p.Y4115*	DNHD1_uc001mea.4_Nonsense_Mutation_p.Y384*|DNHD1_uc001meb.3_Nonsense_Mutation_p.Y383*|DNHD1_uc001mec.3_Nonsense_Mutation_p.Y383*|DNHD1_uc010rao.2_Nonsense_Mutation_p.Y373*|DNHD1_uc009yfg.3_5'Flank	NM_144666	NP_653267	Q96M86	DNHD1_HUMAN	Homo sapiens dynein heavy chain domain 1 (DNHD1), transcript variant 1, mRNA.	4115					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGCCAAGTATCAGCAGGTTT	0.562													G	6589084	T	G	6589084	4	3	83	1	0	0	0	0	0	1	0	0	4707	1442	50	5	12488	5	DNHD1	11	6589084	Nonsense_Mutation	SNP	T	TCGA-06-2567-01A-01D-1494-08		6589084	128417432	39	5522											
OR5M1	390168	broad.mit.edu	37	chr11	56380101	56380101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggattacatctgtgttcCgtaggctatagatcaatggg	11	12	11	7	1	2	1	1	0	1	1	3	2	3	2	1	3	1	3	1	3	6	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56380101C>T	uc001nja.1	-	0	878	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCTGTGTTCCGTAGGCTATA	0.398													T	56380101	C	T	56380101	3	4	83	1	0	0	0	0	1	0	0	0	11248	652	23	1	73	1	OR5M1	11	56380101	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	49791017	56380101	78626415	40	5523											
OR5AR1	219493	broad.mit.edu	37	chr11	56431862	56431862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcgttcagctgaaggccGccttaaggctttctccacct	8	11	9	13	2	2	1	1	1	1	0	3	1	2	1	4	2	2	3	4	2	3	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:56431862G>A	uc010rjm.2	+	0	701	c.701G>A	c.(700-702)cGc>cAc	p.R234H	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCTGAAGGCCGCCTTAAGGCT	0.483													A	56431862	G	A	56431862	3	1	83	1	0	0	0	0	1	0	0	0	11221	1087	38	1	703	1	OR5AR1	11	56431862	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	51761	56431862	78574654	41	5524											
SORL1	6653	broad.mit.edu	37	chr11	121444999	121444999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcgttgccaggagtctggGacttgtatcccactgtccta	6	14	10	11	1	1	0	0	0	1	0	4	2	3	2	3	2	1	2	3	2	2	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr11:121444999G>A	uc001pxx.3	+	23	3516	c.3387G>A	c.(3385-3387)ggG>ggA	p.G1129G	SORL1_uc010rzp.1_5'Flank	NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	1129	LDL-receptor class A 2.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		AGGAGTCTGGGACTTGTATCC	0.453													A	121444999	G	A	121444999	2	1	83	1	0	0	0	0	0	0	0	1	15028	1161	41	2		2	SORL1	11	121444999	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	65013137	121444999	13561517	42	5525											
PIP4K2C	79837	broad.mit.edu	37	chr12	57988971	57988971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcttcaggaacctccGtgatcgatttggcattgatg	8	12	11	10	2	2	2	1	2	1	0	4	4	3	3	3	3	1	1	3	3	1	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:57988971G>A	uc001sou.3	+	2	466	c.335G>A	c.(334-336)cGt>cAt	p.R112H	PIP4K2C_uc001sot.3_Missense_Mutation_p.R112H|PIP4K2C_uc010srs.2_Missense_Mutation_p.R94H|PIP4K2C_uc010srt.2_Missense_Mutation_p.R112H	NM_001146258	NP_079055	Q8TBX8	PI42C_HUMAN	Homo sapiens phosphatidylinositol-5-phosphate 4-kinase, type II, gamma (PIP4K2C), transcript variant 2, mRNA.	112	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	p.L111L(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					AGGAACCTCCGTGATCGATTT	0.443													A	57988971	G	A	57988971	3	1	83	1	0	0	0	0	1	0	0	0	12015	1145	40	1	345	1	PIP4K2C	12	57988971	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		57988971	75862924	43	5526											
KCNC2	3747	broad.mit.edu	37	chr12	75441962	75441962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccatcagaagcacacGtgtaatcacctgtcgtcagt	10	10	7	14	2	3	1	3	0	0	1	6	1	5	1	3	0	1	2	3	0	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:75441962G>A	uc001sxg.1	-	3	2295	c.1751C>T	c.(1750-1752)aCg>aTg	p.T584M	KCNC2_uc009zry.3_Missense_Mutation_p.T584M|KCNC2_uc001sxe.3_Missense_Mutation_p.T584M|KCNC2_uc001sxf.3_Intron|KCNC2_uc010stw.1_Intron	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	584					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AGAAGCACACGTGTAATCACC	0.448													A	75441962	G	A	75441962	3	1	83	1	0	0	0	0	1	0	0	0	8073	1145	40	1	239	1	KCNC2	12	75441962	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	17452991	75441962	58409933	44	5527											
SCYL2	55681	broad.mit.edu	37	chr12	100711649	100711649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctgatgagataaagaaCagtgttctacccatggttta	12	12	8	9	0	1	3	0	2	1	2	2	4	2	3	3	1	2	2	3	1	5	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:100711649C>T	uc001thn.3	+	9	1391	c.1341C>T	c.(1339-1341)aaC>aaT	p.N447N	SCYL2_uc009ztw.1_Silent_p.N274N|SCYL2_uc001thm.1_Silent_p.N447N	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	447					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						AGATAAAGAACAGTGTTCTAC	0.333													T	100711649	C	T	100711649	2	4	83	1	0	0	0	0	0	0	0	1	14041	477	17	2		2	SCYL2	12	100711649	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	25269687	100711649	33140246	45	5528											
KSR2	283455	broad.mit.edu	37	chr12	117977605	117977605	+	Frame_Shift_Del	DEL	G	G	-																															cggcgtggcactaggagggaGggggggtgctggcgaggagg																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:117977605delG	uc001two.2	-	9	1574	c.1519delC	c.(1519-1521)ctcfs	p.L507fs		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	536					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAGGAGGGAGGGGGGGTGCT	0.632													-	117977605	G	-	117977605	7	5	83	1	0	1	0	1	0	0	0	0	8641	1000	35	0	1290	0	KSR2	12	117977605	Frame_Shift_Del	DEL	G	TCGA-06-2567-01A-01D-1494-08	17265956	117977605	15874290	46	5529											
PIWIL1	9271	broad.mit.edu	37	chr12	130841563	130841563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggctgttgatctatacgcGaagaaattatgaagcagcca	13	10	10	8	2	1	3	0	2	1	1	1	4	1	3	1	1	3	3	1	1	6	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr12:130841563G>A	uc001uik.3	+	12	1776	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	PIWIL1_uc001uij.2_Missense_Mutation_p.R502Q	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	502					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ATCTATACGCGAAGAAATTAT	0.348													A	130841563	G	A	130841563	3	1	83	1	0	0	0	0	1	0	0	0	12034	1058	37	1	1551	1	PIWIL1	12	130841563	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	12863958	130841563	3010332	47	5530											
HEATR4	399671	broad.mit.edu	37	chr14	73974950	73974950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcacagggtaagtagcagtaCcttccagagccaagcactga	13	7	10	11	0	1	2	1	1	0	1	2	2	2	2	3	1	4	5	3	1	4	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr14:73974950C>T	uc021rwe.1	-	8	2117	c.1769G>A	c.(1768-1770)gGt>gAt	p.G590D	HEATR4_uc021rwf.1_Missense_Mutation_p.G543D|HEATR4_uc010tub.1_Missense_Mutation_p.G590D	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTAGCAGTACCTTCCAGAGC	0.478													T	73974950	C	T	73974950	3	4	83	1	0	0	0	0	1	0	0	0	7085	507	18	2	1351	2	HEATR4	14	73974950	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		73974950	33374590	48	5531											
B2M	567	broad.mit.edu	37	chr15	45007798	45007801	+	Frame_Shift_Del	DEL	TCTA	TCTA	-																															tttcagcaaggactggtcttTctatctcttgtactacactg																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45007798_45007801delTCTA	uc001zuc.3	+	1	305_308	c.245_248delTCTA	c.(244-249)ttctatfs	p.F82fs	B2M_uc010uek.1_Frame_Shift_Del_p.F82fs|B2M_uc010bdx.1_Intron	NM_004048	NP_004039	P61769	B2MG_HUMAN	Homo sapiens beta-2-microglobulin (B2M), mRNA.	82	Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of defense response to virus by virus|viral reproduction	early endosome membrane|Golgi membrane|MHC class I protein complex	protein binding	p.F82V(1)|p.Y83*(1)		breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(30)|kidney(8)|large_intestine(6)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	59		all_cancers(109;1.88e-13)|all_epithelial(112;2.13e-11)|Lung NSC(122;2.22e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;4.16e-21)|GBM - Glioblastoma multiforme(94;8.97e-07)|COAD - Colon adenocarcinoma(120;0.0357)|Colorectal(105;0.0377)|Lung(196;0.0903)|LUSC - Lung squamous cell carcinoma(244;0.192)		GACTGGTCTTTCTATCTCTTGTAC	0.436													-	45007801	TCTA	-	45007798	7	5	83	1	0	1	0	1	0	0	0	0	1249	1783	62	0	251	0	B2M	15	45007798	Frame_Shift_Del	DEL	TCTA	TCGA-06-2567-01A-01D-1494-08		45007798	57523594	49	5532											
C15orf43	145645	broad.mit.edu	37	chr15	45249150	45249150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgacttcttgttcagctgtGatgcctcgcacccagacacg	7	10	9	15	3	2	2	1	1	1	1	3	3	2	2	3	0	2	3	3	0	0	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:45249150G>C	uc001zuk.3	+	1	135	c.121G>C	c.(121-123)Gat>Cat	p.D41H		NM_152448	NP_689661	Q8NHR7	CO043_HUMAN	Homo sapiens chromosome 15 open reading frame 43 (C15orf43), mRNA.	41										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		GTTCAGCTGTGATGCCTCGCA	0.577													C	45249150	G	C	45249150	3	2	83	1	0	0	0	0	1	0	0	0	1810	1290	45	4	127	4	C15orf43	15	45249150	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	241352	45249150	57282242	50	5533											
CYP11A1	1583	broad.mit.edu	37	chr15	74637444	74637444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtaatttccggagcccGccttcttgatgcgcctgtgc	5	11	11	14	4	1	1	0	1	1	0	2	3	2	2	5	1	3	1	5	1	1	4	rs121912811		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr15:74637444G>A	uc002axt.2	-	2	721	c.566C>T	c.(565-567)gCg>gTg	p.A189V	CYP11A1_uc002axs.2_Missense_Mutation_p.A31V|CYP11A1_uc010bjm.1_Missense_Mutation_p.A31V|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_5'Flank|CYP11A1_uc010ulj.1_Intron|CYP11A1_uc010bjq.3_Missense_Mutation_p.A189V	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189			A -> V (in AICSR; no loss of activity).		C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCCGGAGCCCGCCTTCTTGAT	0.587													A	74637444	G	A	74637444	3	1	83	1	0	0	0	0	1	0	0	0	4177	1087	38	1	1027	1	CYP11A1	15	74637444	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	29388294	74637444	27893948	51	5534											
ZNF213	7760	broad.mit.edu	37	chr16	3187509	3187509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgctggctgcggccCgagctgcgtaccaaggagca	6	6	15	14	4	0	0	0	0	0	0	0	2	0	1	3	3	7	6	3	3	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:3187509C>T	uc010uws.2	+	1	675	c.228C>T	c.(226-228)ccC>ccT	p.P76P	ZNF213_uc002cud.3_Non-coding_Transcript|ZNF213_uc010btf.3_Silent_p.P76P|ZNF213_uc010bth.3_Silent_p.P76P|ZNF213_uc010uwt.2_Silent_p.P76P	NM_004220	NP_004211	O14771	ZN213_HUMAN	Homo sapiens zinc finger protein 213 (ZNF213), transcript variant 1, mRNA.	76	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GGCTGCGGCCCGAGCTGCGTA	0.662													T	3187509	C	T	3187509	2	4	83	1	0	0	0	0	0	0	0	1	17870	639	23	1		1	ZNF213	16	3187509	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		3187509	87167244	52	5535											
CLN3	1201	broad.mit.edu	37	chr16	28489096	28489096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggtgttcacgtaggctgCgcctcccaggagcccctcat	7	8	12	14	2	2	0	2	0	0	0	3	2	3	1	4	3	2	3	4	3	2	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:28489096C>T	uc002dpo.3	-	13	1482	c.1159G>A	c.(1159-1161)Gca>Aca	p.A387T	NPIPL1_uc010vct.2_Intron|CLN3_uc002dpl.3_Missense_Mutation_p.A309T|CLN3_uc002dpm.3_Missense_Mutation_p.A333T|CLN3_uc010vcu.2_Missense_Mutation_p.A287T|CLN3_uc010vcv.2_Missense_Mutation_p.A363T|CLN3_uc002dpp.3_Missense_Mutation_p.A387T|CLN3_uc021tfs.1_Missense_Mutation_p.A234T|CLN3_uc002dpt.1_Missense_Mutation_p.A287T|CLN3_uc002dpq.1_Missense_Mutation_p.A339T|CLN3_uc010bye.1_Missense_Mutation_p.A370T|CLN3_uc002dpr.1_Non-coding_Transcript|CLN3_uc010byf.1_Non-coding_Transcript|CLN3_uc002dps.1_Missense_Mutation_p.A260T|CLN3_uc002dpu.1_Missense_Mutation_p.A285T	NM_000086	NP_001035897	Q13286	CLN3_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 3 (CLN3), transcript variant 2, mRNA.	387					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						ACGTAGGCTGCGCCTCCCAGG	0.612													T	28489096	C	T	28489096	3	4	83	1	0	0	0	0	1	0	0	0	3574	768	27	1	165	1	CLN3	16	28489096	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	25301587	28489096	61865657	53	5536											
ORAI3	93129	broad.mit.edu	37	chr16	30960835	30960835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgctctcgggcttcgcCatggtgaggggccgggaggg	3	8	19	11	3	1	1	0	1	1	0	3	2	1	2	3	6	1	2	3	6	0	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:30960835C>T	uc002eac.3	+	0	431	c.225C>T	c.(223-225)gcC>gcT	p.A75A		NM_152288	NP_689501	Q9BRQ5	ORAI3_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 3 (ORAI3), mRNA.	75						integral to membrane	protein binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6						CGGGCTTCGCCATGGTGAGGG	0.692													T	30960835	C	T	30960835	2	4	83	1	0	0	0	0	0	0	0	1	11335	581	21	2		2	ORAI3	16	30960835	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	2471739	30960835	59393918	54	5537											
CHST5	23563	broad.mit.edu	37	chr16	75563755	75563755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgaatggctgccgCgtgcacagtgtcttgcatac	7	9	13	12	2	1	1	0	1	1	0	1	1	1	1	2	2	4	4	2	2	2	2	rs77436937		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr16:75563755C>T	uc002fej.1	-	4	867	c.546G>A	c.(544-546)acG>acA	p.T182T	CHST5_uc002fei.3_Silent_p.T176T|CHST5_uc021tlk.1_Silent_p.T176T	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	176					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						ATGGCTGCCGCGTGCACAGTG	0.667													T	75563755	C	T	75563755	2	4	83	1	0	0	0	0	0	0	0	1	3437	755	27	1		1	CHST5	16	75563755	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08	44602920	75563755	14790998	55	5538											
TP53	7157	broad.mit.edu	37	chr17	7577127	7577127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcacaaacacgcacctCaaagctgttccgtcccagta	13	6	7	15	2	1	0	1	0	0	0	3	0	3	0	3	1	2	5	3	1	3	2	rs67389650		TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7577127C>T	uc002gim.2	-	7	1005	c.811G>A	c.(811-813)Gag>Aag	p.E271K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.E271K|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.E139K|TP53_uc010cnf.1_Missense_Mutation_p.E139K|TP53_uc002gii.1_Missense_Mutation_p.E139K|TP53_uc010cni.1_Missense_Mutation_p.E271K|TP53_uc010cnh.1_Missense_Mutation_p.E271K|TP53_uc002gij.2_Missense_Mutation_p.E271K|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	271	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> V (in an osteosarcoma 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.E271K(54)|p.E271*(34)|p.F270L(23)|p.F270C(16)|p.E271Q(9)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.E271V(6)|p.F270Y(5)|p.F270I(4)|p.G266_E271delGRNSFE(4)|p.E271G(3)|p.E271D(3)|p.G262_F270delGNLLGRNSF(2)|p.E271_R273delEVR(2)|p.F270fs*72(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.S269_F270>I(2)|p.E271P(2)|p.E271del(2)|p.E271fs*34(2)|p.E271fs*35(2)|p.E271E(2)|p.E271fs*73(1)|p.E258fs*71(1)|p.E271fs*74(1)|p.S269_F270insX(1)|p.S269fs*21(1)|p.S269fs*34(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)		ACACGCACCTCAAAGCTGTTC	0.537		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)			T	7577127	C	T	7577127	3	4	83	1	0	0	0	0	1	0	0	0	16482	835	29	2	475	2	TP53	17	7577127	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		7577127	73618083	56	5539											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	83	1	0	0	0	0	0	1	0	0	16482	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	1136	7578263	73616947	57	5540											
MYH13	8735	broad.mit.edu	37	chr17	10206539	10206539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctgcctcttgtaagActtcactttggcctgcagct	6	13	8	14	0	3	1	2	0	1	1	3	1	3	1	3	1	4	3	3	1	1	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:10206539A>G	uc002gmk.1	-	38	5731	c.5641T>C	c.(5641-5643)Tct>Cct	p.S1881P		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1881					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCTTGTAAGACTTCACTTTG	0.612													G	10206539	A	G	10206539	3	3	83	1	0	0	0	0	1	0	0	0	10108	275	10	3	187	3	MYH13	17	10206539	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08	2628276	10206539	70988671	58	5541											
CCDC144A	9720	broad.mit.edu	37	chr17	16593762	16593762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggggctgaggggtctccGaagccggcagtctacgccac	7	5	17	12	3	2	1	0	1	2	0	3	3	2	2	3	6	2	2	3	6	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:16593762G>A	uc002gqk.1	+	0	124	c.48G>A	c.(46-48)ccG>ccA	p.P16P		NM_014695	NP_055510	A2RUR9	C144A_HUMAN	Homo sapiens coiled-coil domain containing 144A (CCDC144A), mRNA.	16								p.P16P(1)									AGGGGTCTCCGAAGCCGGCAG	0.672													A	16593762	G	A	16593762	2	1	83	1	0	0	0	0	0	0	0	1	2803	1045	37	1		1	CCDC144A	17	16593762	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	6387223	16593762	64601448	59	5542											
HELZ	9931	broad.mit.edu	37	chr17	65104714	65104714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctgaggaagatgctggaGgtgaggatggtgatggtgtg	8	9	21	3	1	0	4	0	3	0	1	0	7	0	7	0	7	1	2	0	7	1	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr17:65104714G>A	uc010wqk.2	-	29	4808	c.4621C>T	c.(4621-4623)Ctc>Ttc	p.L1541F	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.L1540F|HELZ_uc010der.3_Missense_Mutation_p.L84F	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGATGCTGGAGGTGAGGATGG	0.577													A	65104714	G	A	65104714	3	1	83	1	0	0	0	0	1	0	0	0	7104	1000	35	2	1226	2	HELZ	17	65104714	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	48510952	65104714	16090496	60	5543											
DSG1	1828	broad.mit.edu	37	chr18	28934952	28934952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtaatccaaccaacttcCggcatgataggtagtctgag	13	9	10	9	1	1	3	0	2	1	1	3	3	3	3	3	2	2	3	3	2	5	4	rs147922509	byFrequency	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr18:28934952C>T	uc002kwp.3	+	14	3005	c.2793C>T	c.(2791-2793)tcC>tcT	p.S931S	DSG1_uc010xbp.2_Silent_p.S290S	NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	931					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AACCAACTTCCGGCATGATAG	0.463													T	28934952	C	T	28934952	2	4	83	1	0	0	0	0	0	0	0	1	4815	639	23	1		1	DSG1	18	28934952	Silent	SNP	C	TCGA-06-2567-01A-01D-1494-08		28934952	49142296	61	5544											
STXBP2	6813	broad.mit.edu	37	chr19	7707328	7707328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtatgagaccaccGggctgagcgaggcgcgggag	8	4	17	12	4	0	2	0	2	0	1	1	5	1	3	4	4	1	2	4	4	1	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:7707328G>A	uc010xjr.2	+	9	886	c.841G>A	c.(841-843)Ggg>Agg	p.G281R	STXBP2_uc002mha.4_Missense_Mutation_p.G270R|STXBP2_uc002mhb.4_Missense_Mutation_p.G267R|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	270					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGAGACCACCGGGCTGAGCGA	0.632													A	7707328	G	A	7707328	3	1	83	1	0	0	0	0	1	0	0	0	15449	1116	39	1	846	1	STXBP2	19	7707328	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		7707328	51421655	62	5545											
ATG4D	84971	broad.mit.edu	37	chr19	10659590	10659590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctccagtgtacaaggcGgatgtggcacgcctggtggc	6	8	15	12	2	0	0	0	0	0	0	2	1	2	1	3	5	1	2	3	5	2	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:10659590G>A	uc002mov.3	+	5	966	c.846G>A	c.(844-846)gcG>gcA	p.A282A	ATG4D_uc010xlh.2_Silent_p.A219A|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Non-coding_Transcript|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	282					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTACAAGGCGGATGTGGCAC	0.647													A	10659590	G	A	10659590	2	1	83	1	0	0	0	0	0	0	0	1	1104	1103	39	1		1	ATG4D	19	10659590	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	2952262	10659590	48469393	63	5546											
ZNF676	163223	broad.mit.edu	37	chr19	22363176	22363176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattcttcacatttgtagGgtttctctccagcatgaatt	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	1	1	1	3	1	1	2	6			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:22363176G>T	uc002nqs.1	-	2	1661	c.1343C>A	c.(1342-1344)cCc>cAc	p.P448H		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ACATTTGTAGGGTTTCTCTCC	0.433													T	22363176	G	T	22363176	3	4	83	1	0	0	0	0	1	0	0	0	18184	1232	43	4	427	4	ZNF676	19	22363176	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	11703586	22363176	36765807	64	5547											
GRIK5	2901	broad.mit.edu	37	chr19	42558502	42558502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcatgaggctggtcccGtggggccaaatgttggccga	7	10	15	9	2	1	1	1	1	0	0	2	2	2	1	3	5	0	3	3	5	2	3	rs140981334	by1000genomes	TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:42558502G>A	uc002osj.1	-	7	1061	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	GRIK5_uc010eib.1_Silent_p.H261H	NM_002088	NP_002079	Q16478	GRIK5_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 5 (GRIK5), mRNA.	342						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GGCTGGTCCCGTGGGGCCAAA	0.652													A	42558502	G	A	42558502	2	1	83	1	0	0	0	0	0	0	0	1	6832	1136	40	1		1	GRIK5	19	42558502	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	20195326	42558502	16570481	65	5548											
ZNF28	7576	broad.mit.edu	37	chr19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttccatgtgtgatttgCgactgaaaactttctcacat	9	16	7	9	1	2	2	1	2	2	0	4	3	3	2	1	0	2	0	1	0	2	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:53303413C>T	uc002qad.3	-	3	1842	c.1685G>A	c.(1684-1686)cGc>cAc	p.R562H	ZNF28_uc002qac.3_Missense_Mutation_p.R508H|ZNF28_uc010eqe.3_Missense_Mutation_p.R508H|ZNF28_uc021uza.1_Missense_Mutation_p.R509H	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413													T	53303413	C	T	53303413	3	4	83	1	0	0	0	0	1	0	0	0	17914	768	27	1	475	1	ZNF28	19	53303413	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08	10744911	53303413	5825570	66	5549											
CACNG8	59283	broad.mit.edu	37	chr19	54466519	54466519	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccatcgccatcagcacTgactactggctctacacgcg	10	8	8	15	3	2	2	1	2	1	0	3	2	2	2	2	1	3	2	2	1	2	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:54466519T>G	uc002qcs.2	+	0	230	c.123T>G	c.(121-123)acT>acG	p.T41T		NM_031895	NP_114101	Q8WXS5	CCG8_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 8 (CACNG8), mRNA.	41					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|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CCATCAGCACTGACTACTGGC	0.711													G	54466519	T	G	54466519	2	3	83	1	0	0	0	0	0	0	0	1	2589	1567	55	5		5	CACNG8	19	54466519	Silent	SNP	T	TCGA-06-2567-01A-01D-1494-08	1163106	54466519	4662464	67	5550											
NLRP4	147945	broad.mit.edu	37	chr19	56370584	56370584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttttccgttcaaaatGtctttaagaaagaggatgaa	13	15	8	5	1	3	3	1	1	2	2	4	4	4	4	1	1	0	2	1	1	5	5			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr19:56370584G>A	uc002qmd.4	+	2	2247	c.1825G>A	c.(1825-1827)Gtc>Atc	p.V609I	NLRP4_uc002qmf.3_Missense_Mutation_p.V534I|NLRP4_uc010etf.3_Missense_Mutation_p.V440I	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	609							ATP binding	p.V609F(2)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CGTTCAAAATGTCTTTAAGAA	0.408													A	56370584	G	A	56370584	3	1	83	1	0	0	0	0	1	0	0	0	10555	1377	48	2	1831	2	NLRP4	19	56370584	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08	1904065	56370584	2758399	68	5551											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122583	33122583	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgctccaagaaaaatgaAattatggttgcaccaggtaa	16	10	8	7	1	0	2	0	1	0	1	2	2	1	2	2	2	1	4	2	2	6	4			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr20:33122583A>T	uc002xal.3	+	2	291	c.231A>T	c.(229-231)gaA>gaT	p.E77D	DYNLRB1_uc010zuk.2_Missense_Mutation_p.E77D	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	77					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						AGAAAAATGAAATTATGGTTG	0.532													T	33122583	A	T	33122583	3	4	83	1	0	0	0	0	1	0	0	0	4889	11	1	5	241	5	DYNLRB1	20	33122583	Missense_Mutation	SNP	A	TCGA-06-2567-01A-01D-1494-08		33122583	29902937	69	5552											
C21orf91	54149	broad.mit.edu	37	chr21	19169012	19169012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggccacaatacactgttaCgacataaagtggcacctgaa	15	7	9	10	1	0	1	0	1	0	0	0	3	0	1	2	2	2	2	2	2	6	3			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:19169012C>T	uc002yko.4	-	2	642	c.551G>A	c.(550-552)cGt>cAt	p.R184H	C21orf91_uc002ykq.4_Missense_Mutation_p.R184H|C21orf91_uc002ykp.4_Missense_Mutation_p.R184H	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	184										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		TACACTGTTACGACATAAAGT	0.433													T	19169012	C	T	19169012	3	4	83	1	0	0	0	0	1	0	0	0	2155	536	19	1	354	1	C21orf91	21	19169012	Missense_Mutation	SNP	C	TCGA-06-2567-01A-01D-1494-08		19169012	28960883	70	5553											
WDR4	10785	broad.mit.edu	37	chr21	44296865	44296865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcagtcatagatgaagagGctgtcatcatcactaaagag	14	9	10	8	0	4	4	4	1	0	3	4	4	4	4	0	1	1	2	0	1	4	2			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr21:44296865G>A	uc002zci.3	-	1	175	c.102C>T	c.(100-102)agC>agT	p.S34S	WDR4_uc002zck.1_Silent_p.S34S|WDR4_uc002zcl.1_5'UTR|WDR4_uc010gpg.1_Silent_p.S34S|WDR4_uc011aew.1_5'UTR|WDR4_uc010gph.1_5'UTR	NM_033661	NP_387510	P57081	WDR4_HUMAN	Homo sapiens WD repeat domain 4 (WDR4), transcript variant 2, mRNA.	34					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		AGATGAAGAGGCTGTCATCAT	0.363													A	44296865	G	A	44296865	2	1	83	1	0	0	0	0	0	0	0	1	17395	1194	42	2		2	WDR4	21	44296865	Silent	SNP	G	TCGA-06-2567-01A-01D-1494-08	25127853	44296865	3833030	71	5554											
RFPL3	10738	broad.mit.edu	37	chr22	32756314	32756314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaggagcgtccgaagtgGgctcatcacacagaatcggc	10	6	12	13	3	3	1	3	0	0	1	5	3	4	2	2	3	1	1	2	3	2	0			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chr22:32756314G>A	uc003amj.3	+	1	654	c.449G>A	c.(448-450)gGg>gAg	p.G150E	RFPL3_uc010gwn.3_Missense_Mutation_p.G121E|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	150	B30.2/SPRY.						zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GTCCGAAGTGGGCTCATCACA	0.542													A	32756314	G	A	32756314	3	1	83	1	0	0	0	0	1	0	0	0	13343	1232	43	2	455	2	RFPL3	22	32756314	Missense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		32756314	18548252	72	5555											
WWC3	55841	broad.mit.edu	37	chrX	10096666	10096666	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagagggaactggccgagGagcgggccaagctggagtac	10	4	19	8	2	0	1	0	0	0	1	0	6	0	4	2	6	4	2	2	6	3	1			TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:10096666G>T	uc004csx.4	+	16	2548	c.2350G>T	c.(2350-2352)Gag>Tag	p.E784*	WWC3_uc010nds.3_Nonsense_Mutation_p.E448*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	784										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						ACTGGCCGAGGAGCGGGCCAA	0.662													T	10096666	G	T	10096666	4	4	83	1	0	0	0	0	0	1	0	0	17515	1175	41	4	2412	4	WWC3	23	10096666	Nonsense_Mutation	SNP	G	TCGA-06-2567-01A-01D-1494-08		10096666	145173894	73	5556											
MSL3	10943	broad.mit.edu	37	chrX	11780954	11780957	+	Splice_Site	DEL	AGTT	AGTT	-																															atgtctatgtttttgttaacAgttagtgaaacttccatgcc																										TCGA-06-2567-01A-01D-1494-08	TCGA-06-2567-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d40a4861-b8c4-4fb8-815a-4e82801eedca	2017d04a-d545-43f6-973c-e6e40cfdb176	g.chrX:11780954_11780957delAGTT	uc004cuw.3	+	7	694	c.589_splice	c.e7-1	p.L197_splice	MSL3_uc004cuv.1_Splice_Site_p.L197_splice|MSL3_uc011mig.2_Splice_Site_p.L48_splice|MSL3_uc011mih.2_Splice_Site_p.L185_splice|MSL3_uc004cuy.3_Splice_Site_p.L31_splice|MSL3_uc011mii.2_Splice_Site_p.L31_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	197					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTTGTTAACAGTTAGTGAAACTT	0.368													-	11780957	AGTT	-	11780954	8	5	83	1	0	1	0	1	0	0	1	0	9955	202	7	0	613	0	MSL3	23	11780954	Splice_Site	DEL	AGTT	TCGA-06-2567-01A-01D-1494-08	1684288	11780954	143489606	74	5557											
GLIS1	148979	broad.mit.edu	37	chr1	54060499	54060499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgaggcttcggcccgggAggtccaggtctgggtgcagg	4	7	20	10	3	1	0	0	0	1	0	3	2	2	1	2	8	1	2	2	8	0	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:54060499A>G	uc001cvr.1	-	2	644	c.77T>C	c.(76-78)cTc>cCc	p.L26P		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	26					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TCGGCCCGGGAGGTCCAGGTC	0.706													G	54060499	A	G	54060499	3	3	84	1	0	0	0	0	1	0	0	0	6501	304	11	3	1817	3	GLIS1	1	54060499	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08		54060499	195190122	1	5558											
TRIM46	80128	broad.mit.edu	37	chr1	155150608	155150608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcggctggcccgtctcaGcgcccagatccaggagcacc	7	4	14	16	3	1	1	1	0	1	1	3	3	2	3	4	4	3	2	4	4	0	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:155150608G>A	uc001fhs.1	+	5	1123	c.1040G>A	c.(1039-1041)aGc>aAc	p.S347N	TRIM46_uc009wpe.1_Non-coding_Transcript|TRIM46_uc001fhq.3_Non-coding_Transcript|TRIM46_uc001fhr.3_Missense_Mutation_p.S347N|TRIM46_uc001fht.1_Non-coding_Transcript|TRIM46_uc010pfa.1_Missense_Mutation_p.S221N|TRIM46_uc001fhu.1_Missense_Mutation_p.S324N|TRIM46_uc009wpg.1_Missense_Mutation_p.S334N|TRIM46_uc001fhw.1_Non-coding_Transcript	NM_025058	NP_079334	Q7Z4K8	TRI46_HUMAN	Homo sapiens tripartite motif containing 46 (TRIM46), mRNA.	347						intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCCCGTCTCAGCGCCCAGATC	0.622													A	155150608	G	A	155150608	3	1	84	1	0	0	0	0	1	0	0	0	16622	971	34	2	1062	2	TRIM46	1	155150608	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	101090109	155150608	94100013	2	5559											
IGSF8	93185	broad.mit.edu	37	chr1	160063842	160063842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgtgtgcttgtcctcgCcaggcagcccagtgccagct	4	11	11	15	1	1	0	0	0	1	0	3	0	2	0	4	1	4	3	4	1	0	2			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:160063842C>T	uc001fva.3	-	2	607	c.562G>A	c.(562-564)Gcg>Acg	p.A188T	IGSF8_uc001fuz.3_Missense_Mutation_p.A188T|IGSF8_uc009wtf.3_Missense_Mutation_p.A188T	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	188	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTGTCCTCGCCAGGCAGCCC	0.677													T	160063842	C	T	160063842	3	4	84	1	0	0	0	0	1	0	0	0	7662	739	26	2	1295	2	IGSF8	1	160063842	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	4913234	160063842	89186779	3	5560											
OBSCN	84033	broad.mit.edu	37	chr1	228511139	228511139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtgtgcgctggttcaagGatgggaagttgttggaggag	8	10	18	5	1	1	0	1	0	0	0	1	4	1	4	1	5	1	4	1	5	2	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511139G>A	uc009xez.1	+	55	15528	c.15484G>A	c.(15484-15486)Gat>Aat	p.D5162N	OBSCN_uc001hsn.3_Missense_Mutation_p.D5162N	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5162	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTTCAAGGATGGGAAGTT	0.537													A	228511139	G	A	228511139	3	1	84	1	0	0	0	0	1	0	0	0	10888	1174	41	2	15702	2	OBSCN	1	228511139	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	68447297	228511139	20739482	4	5561											
OBSCN	84033	broad.mit.edu	37	chr1	228511261	228511261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctaccgctgcctggccgaGaacagcatgggtgtctcctc	6	9	12	14	2	2	1	0	0	2	1	4	2	2	1	4	2	4	2	4	2	2	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr1:228511261G>A	uc009xez.1	+	55	15650	c.15606G>A	c.(15604-15606)gaG>gaA	p.E5202E	OBSCN_uc001hsn.3_Silent_p.E5202E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5202	Ig-like 49.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.P5202P(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCTGGCCGAGAACAGCATGG	0.577													A	228511261	G	A	228511261	2	1	84	1	0	0	0	0	0	0	0	1	10888	933	33	2		2	OBSCN	1	228511261	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	122	228511261	20739360	5	5562											
HOXD8	3234	broad.mit.edu	37	chr2	176996300	176996301	+	Frame_Shift_Del	DEL	AA	AA	-																															ggaaacgaaaaaggaagcccAagagctggaggaagacagag																										TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr2:176996300_176996301delAA	uc002uko.3	+	1	1460_1461	c.833_834delAA	c.(832-834)caafs	p.Q278fs	AX747372_uc002ukm.1_5'Flank|HOXD8_uc002ukn.3_Frame_Shift_Del_p.Q94fs|HOXD8_uc002ukp.3_Frame_Shift_Del_p.Q277fs	NM_019558	NP_062458	P13378	HXD8_HUMAN	Homo sapiens homeobox D8 (HOXD8), transcript variant 1, mRNA.	278					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGGAAGCCCAAGAGCTGGAGG	0.426													-	176996301	AA	-	176996300	7	5	84	1	0	1	0	1	0	0	0	0	7380	130	5	0	839	0	HOXD8	2	176996300	Frame_Shift_Del	DEL	AA	TCGA-06-2569-01A-01D-1494-08		176996300	66203073	6	5563											
TMPRSS7	344805	broad.mit.edu	37	chr3	111766626	111766626	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgcagagcatctgtcTctccactacccgctggagat	8	12	8	13	1	3	2	0	0	3	2	5	3	4	2	2	1	3	3	2	1	2	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:111766626T>G	uc010hqb.2	+	4	563	c.393T>G	c.(391-393)tcT>tcG	p.S131S	TMPRSS7_uc011bhr.1_5'UTR	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	257					proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGCATCTGTCTCTCCACTACC	0.448													G	111766626	T	G	111766626	2	3	84	1	0	0	0	0	0	0	0	1	16352	1538	54	5		5	TMPRSS7	3	111766626	Silent	SNP	T	TCGA-06-2569-01A-01D-1494-08		111766626	86255804	7	5564											
MUC20	200958	broad.mit.edu	37	chr3	195456549	195456549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcctcctcctgcggcTgagtgtggcttccccggaag	4	11	13	13	2	0	1	0	1	0	0	4	2	4	2	5	4	1	3	5	4	1	2			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr3:195456549T>C	uc010hzo.3	+	3	1613	c.1487T>C	c.(1486-1488)cTg>cCg	p.L496P	MUC20_uc010hzp.3_Missense_Mutation_p.L461P	NM_152673	NP_689886	Q8N307	MUC20_HUMAN	Homo sapiens mucin 20, cell surface associated (MUC20), transcript variant L, mRNA.	667	Involved in oligomerization.		Missing.	V -> I (in Ref. 5; AAH29267).	protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		CTCCTGCGGCTGAGTGTGGCT	0.577													C	195456549	T	C	195456549	3	2	84	1	0	0	0	0	1	0	0	0	10052	1580	55	3	1501	3	MUC20	3	195456549	Missense_Mutation	SNP	T	TCGA-06-2569-01A-01D-1494-08	83689923	195456549	2565881	8	5565											
ATP5I	521	broad.mit.edu	37	chr4	666298	666298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcagggtcactcactttaaTatgctgtcatcttgggccgg	7	12	11	11	2	4	0	3	0	1	0	4	0	4	0	1	3	1	2	1	3	2	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:666298T>C	uc003gas.3	-	3	292	c.201A>G	c.(199-201)atA>atG	p.I67M	ATP5I_uc003gar.3_Non-coding_Transcript|ATP5I_uc021xkb.1_Non-coding_Transcript|MYL5_uc003gat.3_5'Flank|MYL5_uc003gau.3_5'Flank	NM_007100	NP_009031	P56385	ATP5I_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial Fo complex, subunit E (ATP5I), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	67					ATP catabolic process|respiratory electron transport chain		hydrogen ion transmembrane transporter activity			lung(1)|skin(1)	2						CTCACTTTAATATGCTGTCAT	0.458													C	666298	T	C	666298	3	2	84	1	0	0	0	0	1	0	0	0	1162	1396	49	3	12	3	ATP5I	4	666298	Missense_Mutation	SNP	T	TCGA-06-2569-01A-01D-1494-08		666298	190487978	9	5566											
ATP10D	57205	broad.mit.edu	37	chr4	47538903	47538903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctcactgagaataagatGgtttttcgaagatgtagtgt	12	13	10	6	1	1	3	1	1	0	3	2	5	1	3	1	1	0	2	1	1	4	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr4:47538903G>T	uc003gxk.1	+	8	1508	c.1344G>T	c.(1342-1344)atG>atT	p.M448I	ATP10D_uc003gxl.1_5'UTR|ATP10D_uc003gxj.3_Missense_Mutation_p.M433I	NM_020453	NP_065186	Q9P241	AT10D_HUMAN	Homo sapiens ATPase, class V, type 10D (ATP10D), mRNA.	448					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAATAAGATGGTTTTTCGAA	0.433													T	47538903	G	T	47538903	3	4	84	1	0	0	0	0	1	0	0	0	1123	1348	47	4	1374	4	ATP10D	4	47538903	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	46872605	47538903	143615373	10	5567											
CCDC99	54908	broad.mit.edu	37	chr5	169031191	169031191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaaatctactccagagAcccagtgccctcaacagtaa	13	9	5	14	0	3	1	1	0	2	1	4	2	4	1	3	0	3	1	3	0	5	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr5:169031191A>G	uc003mae.4	+	11	2077	c.1798A>G	c.(1798-1800)Acc>Gcc	p.T600A	CCDC99_uc011deq.2_Missense_Mutation_p.T417A|CCDC99_uc010jjk.3_Missense_Mutation_p.T326A	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	600					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TACTCCAGAGACCCAGTGCCC	0.358													G	169031191	A	G	169031191	3	3	84	1	0	0	0	0	1	0	0	0	2904	275	10	3	1840	3	CCDC99	5	169031191	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08		169031191	11884069	11	5568											
COL19A1	1310	broad.mit.edu	37	chr6	70916651	70916651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacctggaattgggctGccagggagtccaggtcttcc	7	9	15	10	0	1	1	0	1	1	0	3	3	3	3	4	5	2	1	4	5	2	2			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr6:70916651G>A	uc003pfc.1	+	49	3387	c.3270G>A	c.(3268-3270)ctG>ctA	p.L1090L		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	1090	Triple-helical region 6 (COL6).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GAATTGGGCTGCCAGGGAGTC	0.458													A	70916651	G	A	70916651	2	1	84	1	0	0	0	0	0	0	0	1	3707	1306	46	2		2	COL19A1	6	70916651	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		70916651	100198416	12	5569											
SDK1	221935	broad.mit.edu	37	chr7	4153059	4153059	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccagtgagaccagcctgcgGcttcgctgggtggtgagtgg	5	8	18	10	2	0	2	0	2	0	1	1	3	0	2	3	4	2	2	3	4	0	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:4153059G>T	uc003smx.3	+	23	3712	c.3573G>T	c.(3571-3573)cgG>cgT	p.R1191R	SDK1_uc010kso.3_Silent_p.R467R	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1191	Fibronectin type-III 6.				cell adhesion	integral to membrane		p.R1191W(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCAGCCTGCGGCTTCGCTGGG	0.637													T	4153059	G	T	4153059	2	4	84	1	0	0	0	0	0	0	0	1	14061	1190	42	4		4	SDK1	7	4153059	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		4153059	154985604	13	5570											
KBTBD2	25948	broad.mit.edu	37	chr7	32909138	32909138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcagatatatgctgcCgcagagaccaccggtcaagt	11	8	10	12	3	2	2	2	0	0	2	2	3	2	2	3	1	2	3	3	1	3	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:32909138C>T	uc003tdb.2	-	3	2350	c.1691G>A	c.(1690-1692)cGg>cAg	p.R564Q	AVL9_uc011kai.2_Intron	NM_015483	NP_056298	Q8IY47	KBTB2_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 2 (KBTBD2), mRNA.	564										endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|urinary_tract(1)	17			GBM - Glioblastoma multiforme(11;0.0499)			TATATGCTGCCGCAGAGACCA	0.463													T	32909138	C	T	32909138	3	4	84	1	0	0	0	0	1	0	0	0	8051	652	23	1	184	1	KBTBD2	7	32909138	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	28756079	32909138	126229525	14	5571											
ELN	2006	broad.mit.edu	37	chr7	73474491	73474491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagcaaaatccgctgccaAggtggctgccaaagcccagc	11	5	11	14	1	0	0	0	0	0	0	1	0	1	0	4	2	6	4	4	2	4	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:73474491A>G	uc003tzw.3	+	23	1707	c.1616A>G	c.(1615-1617)aAg>aGg	p.K539R	ELN_uc003tzn.3_Missense_Mutation_p.K533R|ELN_uc003tzy.3_Missense_Mutation_p.K509R|ELN_uc003tzz.3_Missense_Mutation_p.K452R|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Missense_Mutation_p.K444R|ELN_uc003tzq.3_Missense_Mutation_p.K397R|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Missense_Mutation_p.K514R|ELN_uc003tzt.3_Missense_Mutation_p.K538R|ELN_uc003tzu.3_Missense_Mutation_p.K519R|ELN_uc003tzv.3_Missense_Mutation_p.K504R|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Missense_Mutation_p.K523R|ELN_uc011kff.2_Missense_Mutation_p.K533R	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	562	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding	p.Q539Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCGCTGCCAAGGTGGCTGCC	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						G	73474491	A	G	73474491	3	3	84	1	0	0	0	0	1	0	0	0	5112	72	3	3	1707	3	ELN	7	73474491	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08	40565353	73474491	85664172	15	5572											
TRPV5	56302	broad.mit.edu	37	chr7	142625890	142625890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatgtccatcgtaggacaGcagcaggttgtacatctggc	9	9	11	12	1	1	0	0	0	1	0	3	1	2	1	2	3	3	5	2	3	2	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr7:142625890G>T	uc003wby.1	-	5	922	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	TRPV5_uc003wbz.3_Missense_Mutation_p.L220M	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	220					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCGTAGGACAGCAGCAGGTTG	0.572													T	142625890	G	T	142625890	3	4	84	1	0	0	0	0	1	0	0	0	16700	962	34	4	1571	4	TRPV5	7	142625890	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	69151399	142625890	16512773	16	5573											
WNK2	65268	broad.mit.edu	37	chr9	96030181	96030181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccacacctcagcacctgcGgcctgggcaccggggaggtg	6	4	15	16	3	1	0	1	0	0	0	1	1	1	1	5	5	2	2	5	5	0	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:96030181G>T	uc004ati.1	+	15	3850	c.3850G>T	c.(3850-3852)Ggc>Tgc	p.G1284C	WNK2_uc011lud.1_Missense_Mutation_p.G1284C|WNK2_uc004atj.3_Missense_Mutation_p.G1284C|WNK2_uc004atk.3_Missense_Mutation_p.G921C	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1284					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CAGCACCTGCGGCCTGGGCAC	0.657													T	96030181	G	T	96030181	3	4	84	1	0	0	0	0	1	0	0	0	17480	1116	39	4	3912	4	WNK2	9	96030181	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		96030181	45183250	17	5574											
ANAPC2	29882	broad.mit.edu	37	chr9	140074735	140074735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccagaactcactggaCaggatgacagcgtagacccc	11	4	13	13	2	1	3	1	1	0	2	1	5	1	5	3	4	2	1	3	4	2	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr9:140074735C>A	uc004clr.1	-	9	1861	c.1788G>T	c.(1786-1788)ctG>ctT	p.L596L	ANAPC2_uc004clq.1_Silent_p.L452L	NM_013366	NP_037498	Q9UJX6	ANC2_HUMAN	Homo sapiens anaphase promoting complex subunit 2 (ANAPC2), mRNA.	596					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		ACTCACTGGACAGGATGACAG	0.607													A	140074735	C	A	140074735	2	1	84	1	0	0	0	0	0	0	0	1	603	465	17	4		4	ANAPC2	9	140074735	Silent	SNP	C	TCGA-06-2569-01A-01D-1494-08	44044554	140074735	1138696	18	5575											
LHPP	64077	broad.mit.edu	37	chr10	126172716	126172716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctgccgcagactgaagcGttcccggctgaaggtgaggt	7	7	14	13	3	0	4	0	3	0	1	1	4	1	4	4	3	2	3	4	3	2	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr10:126172716G>A	uc001lhs.2	+	1	225	c.134G>A	c.(133-135)cGt>cAt	p.R45H	LHPP_uc001lht.2_Missense_Mutation_p.R45H|LHPP_uc009yai.2_Missense_Mutation_p.R45H	NM_022126	NP_071409	Q9H008	LHPP_HUMAN	Homo sapiens phospholysine phosphohistidine inorganic pyrophosphate phosphatase (LHPP), transcript variant 1, mRNA.	45					protein dephosphorylation	cytosol|nucleus	inorganic diphosphatase activity|magnesium ion binding|phosphohistidine phosphatase activity|protein homodimerization activity			large_intestine(2)|lung(2)	4		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.163)|Colorectal(40;0.187)		AGACTGAAGCGTTCCCGGCTG	0.617													A	126172716	G	A	126172716	3	1	84	1	0	0	0	0	1	0	0	0	8829	1145	40	1	140	1	LHPP	10	126172716	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		126172716	9362031	19	5576											
RAG1	5896	broad.mit.edu	37	chr11	36596029	36596029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttgtgcacattaataaagGgggccggccccgccaacatc	10	9	10	12	2	0	0	0	0	0	0	1	0	0	0	4	3	2	1	4	3	4	4			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:36596029G>T	uc021qgb.1	+	0	1175	c.1175G>T	c.(1174-1176)gGg>gTg	p.G392V	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.G392V	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	392					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ATTAATAAAGGGGGCCGGCCC	0.478									Familial Hemophagocytic Lymphohistiocytosis				T	36596029	G	T	36596029	3	4	84	1	0	0	0	0	1	0	0	0	13091	1232	43	4	1177	4	RAG1	11	36596029	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		36596029	98410487	20	5577											
MAP6	4135	broad.mit.edu	37	chr11	75316902	75316902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttgctttgctccttgtCgtctggcttggtggtactcg	1	18	11	11	2	2	0	0	0	2	0	5	0	3	0	1	3	3	4	1	3	1	5			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr11:75316902C>T	uc001owu.3	-	2	1332	c.1267G>A	c.(1267-1269)Gac>Aac	p.D423N	MAP6_uc001owv.3_Missense_Mutation_p.D423N	NM_033063	NP_149052	Q96JE9	MAP6_HUMAN	Homo sapiens microtubule-associated protein 6 (MAP6), transcript variant 1, mRNA.	423						Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					TGCTCCTTGTCGTCTGGCTTG	0.542													T	75316902	C	T	75316902	3	4	84	1	0	0	0	0	1	0	0	0	9339	884	31	1	1186	1	MAP6	11	75316902	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	38720873	75316902	59689614	21	5578											
CLEC4C	170482	broad.mit.edu	37	chr12	7882275	7882280	+	In_Frame_Del	DEL	AACGGA	AACGGA	-																															ccagccccattcttctgaagAacggaaatttattatcgcac																										TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:7882275_7882280delAACGGA	uc001qtg.1	-	5	728_733	c.554_559delTCCGTT	c.(553-561)ttccgttct>tct	p.FR185del	CLEC4C_uc001qth.1_In_Frame_Del_p.FR185del|CLEC4C_uc001qti.1_In_Frame_Del_p.FR154del	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	185	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		TCTTCTGAAGAACGGAAATTTATTAT	0.398													-	7882280	AACGGA	-	7882275	7	5	84	1	0	1	0	1	0	0	0	0	3544	246	9	0	86	0	CLEC4C	12	7882275	In_Frame_Del	DEL	AACGGA	TCGA-06-2569-01A-01D-1494-08		7882275	125969620	22	5579											
TMBIM4	51643	broad.mit.edu	37	chr12	66547227	66547227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagacttttctcagaaaGgctaaaagagaaaaaaaatt	19	10	7	5	0	1	3	1	0	1	3	2	4	1	3	0	1	0	2	0	1	8	5			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr12:66547227G>A	uc009zqr.3	-	3	315	c.239_splice	c.e3-1	p.T80_splice	LLPH_uc010ssx.2_Splice_Site|TMBIM4_uc001stc.3_Splice_Site_p.A33_splice|TMBIM4_uc001std.3_Intron|TMBIM4_uc001stf.3_Splice_Site_p.A33_splice|TMBIM4_uc009zqs.3_Splice_Site_p.A33_splice	NM_016056	NP_057140	Q9HC24	TMBI4_HUMAN	Homo sapiens transmembrane BAX inhibitor motif containing 4 (TMBIM4), mRNA.	33						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		TTCTCAGAAAGGCTAAAAGAG	0.289													A	66547227	G	A	66547227	2	1	84	1	0	0	0	0	0	0	0	1	16082	1014	35	2		2	TMBIM4	12	66547227	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	58664952	66547227	67304668	23	5580											
WDFY2	115825	broad.mit.edu	37	chr13	52234797	52234797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgtataccatgcaatgcCttgtaagtatccaaatcgct	13	11	7	10	2	0	0	0	0	0	0	2	0	1	0	3	0	4	5	3	0	7	5			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr13:52234797C>G	uc001vfp.3	+	1	543	c.203C>G	c.(202-204)cCt>cGt	p.P68R	WDFY2_uc010ads.1_Missense_Mutation_p.P68R|WDFY2_uc010adt.1_Non-coding_Transcript	NM_052950	NP_443182	Q96P53	WDFY2_HUMAN	Homo sapiens WD repeat and FYVE domain containing 2 (WDFY2), mRNA.	68							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		CATGCAATGCCTTGTAAGTAT	0.403													G	52234797	C	G	52234797	3	3	84	1	0	0	0	0	1	0	0	0	17371	681	24	4	209	4	WDFY2	13	52234797	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		52234797	62935081	24	5581											
DICER1	23405	broad.mit.edu	37	chr14	95560476	95560476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcgcatctcccaggaattCtaagcgctggtaacaatctg	12	10	8	11	2	3	0	0	0	3	0	5	1	3	1	1	2	2	3	1	2	5	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95560476C>G	uc001ydw.2	-	24	5325	c.5113G>C	c.(5113-5115)Gaa>Caa	p.E1705Q	DICER1_uc010avh.1_Missense_Mutation_p.E603Q|DICER1_uc021sbc.1_Missense_Mutation_p.E1705Q|DICER1_uc001ydv.2_Missense_Mutation_p.E1695Q|DICER1_uc001ydx.2_Missense_Mutation_p.E1705Q	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1705	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CCCAGGAATTCTAAGCGCTGG	0.527			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				G	95560476	C	G	95560476	3	3	84	1	0	0	0	0	1	0	0	0	4560	922	32	4	671	4	DICER1	14	95560476	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		95560476	11789064	25	5582											
DICER1	23405	broad.mit.edu	37	chr14	95571502	95571519	+	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	AAAGTATGCTGGGGAGAC	-																															caaaaggcagtgaaggcgatAaagtatgctggggagacaaa																										TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr14:95571502_95571519delAAAGTATGCTGGGGAGAC	uc001ydw.2	-	20	3370_3387	c.3158_3175delGTCTCCCCAGCATACTTT	c.(3157-3177)tgtctccccagcatactttat>tat	p.CLPSIL1053del	DICER1_uc010avh.1_5'UTR|DICER1_uc021sbc.1_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydv.2_In_Frame_Del_p.CLPSIL1043del|DICER1_uc001ydx.2_In_Frame_Del_p.CLPSIL1053del|DICER1_uc001ydy.1_5'Flank|DICER1_uc021sbd.1_In_Frame_Del_p.CLPSIL335del	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1053					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGAAGGCGATAAAGTATGCTGGGGAGACAAACAGCTTT	0.472			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				-	95571519	AAAGTATGCTGGGGAGAC	-	95571502	7	5	84	1	0	1	0	1	0	0	0	0	4560	362	13	0	2625	0	DICER1	14	95571502	In_Frame_Del	DEL	AAAGTATGCTGGGGAGAC	TCGA-06-2569-01A-01D-1494-08	11026	95571502	11778038	26	5583											
ITGAD	3681	broad.mit.edu	37	chr16	31422097	31422097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtggaagggggtacagaaCctggtcctgggggccccccg	6	6	17	12	1	0	1	0	0	0	1	1	2	1	2	5	6	2	1	5	6	3	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr16:31422097C>A	uc010cap.1	+	11	1303	c.1254C>A	c.(1252-1254)aaC>aaA	p.N418K	ITGAD_uc002ebv.1_Missense_Mutation_p.N418K	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	418					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGTACAGAACCTGGTCCTGG	0.647													A	31422097	C	A	31422097	3	1	84	1	0	0	0	0	1	0	0	0	7942	506	18	4	1300	4	ITGAD	16	31422097	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		31422097	58932656	27	5584											
TP53	7157	broad.mit.edu	37	chr17	7578456	7578467	+	In_Frame_Del	DEL	GCGGACGCGGGT	GCGGACGCGGGT	-																															tgcttgtagatggccatggcGcggacgcgggtgccgggcgg																								rs139200646		TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:7578456_7578467delGCGGACGCGGGT	uc002gim.2	-	4	657_668	c.463_474delACCCGCGTCCGC	c.(463-474)acccgcgtccgcdel	p.TRVR155del	TP53_uc002gig.1_In_Frame_Del_p.TRVR155del|TP53_uc002gih.3_In_Frame_Del_p.TRVR155del|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_In_Frame_Del_p.TRVR23del|TP53_uc010cnf.1_In_Frame_Del_p.TRVR23del|TP53_uc002gii.1_In_Frame_Del_p.TRVR23del|TP53_uc010cni.1_In_Frame_Del_p.TRVR155del|TP53_uc010cnh.1_In_Frame_Del_p.TRVR155del|TP53_uc002gij.2_In_Frame_Del_p.TRVR155del|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_In_Frame_Del_p.TRVR62del|TP53_uc002gio.2_In_Frame_Del_p.TRVR23del|TP53_uc010vug.2_In_Frame_Del_p.TRVR116del	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.V157F(312)|p.R158H(140)|p.R158L(138)|p.R156P(48)|p.T155N(42)|p.G154V(41)|p.R158C(34)|p.T155P(33)|p.R158G(28)|p.T155I(26)|p.R156fs*14(22)|p.V157I(20)|p.R156H(20)|p.T155A(18)|p.R158P(18)|p.V157D(16)|p.V157G(14)|p.V157L(12)|p.R158fs*12(12)|p.G154G(12)|p.R158R(12)|p.V157V(10)|p.T155T(10)|p.R158fs*11(9)|p.G154S(9)|p.R158_A159insX(8)|p.R26L(8)|p.R65L(8)|p.R158fs(8)|p.0?(8)|p.V25F(6)|p.R156S(6)|p.R156R(6)|p.R156fs*25(6)|p.R156G(6)|p.R156L(6)|p.G154D(6)|p.V64F(6)|p.V157fs*13(6)|p.R26H(5)|p.R65H(5)|p.P152fs*14(5)|p.?(5)|p.T155fs*23(4)|p.V157del(4)|p.V157fs*9(4)|p.R156C(4)|p.G154fs*14(4)|p.R156_I162delRVRAMAI(4)|p.T155S(4)|p.R158_A159delRA(4)|p.V157fs*22(4)|p.V157fs*24(4)|p.G154I(3)|p.G154fs*27(3)|p.R65fs(2)|p.R156_V157del(2)|p.V157A(2)|p.G154_R156delGTR(2)|p.T155fs*25(2)|p.V157_R158delVR(2)|p.R156fs*20(2)|p.R26fs(2)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.R156del(2)|p.G154fs*16(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.G154C(2)|p.D148_T155delDSTPPPGT(2)|p.R156_V157insV(2)|p.V157_M160delVRAM(2)|p.T155fs*15(2)|p.T155_A161delTRVRAMA(2)|p.V157_I162delVRAMAI(2)|p.R26G(2)|p.V157fs*21(2)|p.V157fs*25(2)|p.R158fs*24(2)|p.T155fs*26(2)|p.R65G(2)|p.R156_R158delRVR(2)|p.T155_R156delTR(2)|p.R158fs*8(2)|p.P151_V173del23(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*23(2)|p.R158F(2)|p.R158_A159insXX(2)|p.G154fs*22(2)|p.A159fs*11(1)|p.Q144_G154del11(1)|p.R156fs*?(1)|p.R26fs*11(1)|p.T62P(1)|p.G154A(1)|p.A159fs*21(1)|p.T62A(1)|p.S149fs*72(1)|p.T62N(1)|p.T62I(1)|p.R65fs*11(1)|p.P153_G154insX(1)|p.T23P(1)|p.T23A(1)|p.T23N(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.D148fs*23(1)|p.R158_A161del(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)		TGGCCATGGCGCGGACGCGGGTGCCGGGCGGG	0.623		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)			-	7578467	GCGGACGCGGGT	-	7578456	7	5	84	1	0	1	0	1	0	0	0	0	16482	1074	38	0	824	0	TP53	17	7578456	In_Frame_Del	DEL	GCGGACGCGGGT	TCGA-06-2569-01A-01D-1494-08		7578456	73616754	28	5585											
EVI2B	2124	broad.mit.edu	37	chr17	29631684	29631684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcactatcttctgatgtaCcatttacttgatcttttatt	9	19	4	9	0	3	2	0	2	3	0	3	2	3	2	1	0	3	2	1	0	4	9			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29631684C>G	uc010csq.2	-	2	1172	c.989G>C	c.(988-990)gGt>gCt	p.G330A	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.G315A|EVI2B_uc021tuk.1_Missense_Mutation_p.G315A	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	315						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTCTGATGTACCATTTACTTG	0.388													G	29631684	C	G	29631684	3	3	84	1	0	0	0	0	1	0	0	0	5329	507	18	4	406	4	EVI2B	17	29631684	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08	22053228	29631684	51563526	29	5586											
NF1	4763	broad.mit.edu	37	chr17	29653042	29653043	+	Frame_Shift_Ins	INS	-	-	A																															tctccgcagtctatatctatINSaactgtaactcctgggtcag																										TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:29653042_29653043insA	uc002hgg.3	+	36	5423_5424	c.5040_5041insA	c.(5038-5043)tataacfs	p.Y1680fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.Y1659fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.Y692fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1680	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTATATCTATAACTGTAACTC	0.46			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29653043	-	A	29653042	7	5	84	1	0	1	1	0	0	0	0	0	10432	1413	49	0	5247	0	NF1	17	29653042	Frame_Shift_Ins	INS	-	TCGA-06-2569-01A-01D-1494-08	21358	29653042	51542168	30	5587											
GAS2L2	246176	broad.mit.edu	37	chr17	34073121	34073121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaggcccaggcactcGgctgggccaaaggaacgagg	10	3	16	12	2	0	1	0	1	0	0	1	3	0	2	3	6	2	2	3	6	2	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:34073121G>A	uc002hjv.2	-	5	1423	c.1395C>T	c.(1393-1395)gcC>gcT	p.A465A		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	465					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCAGGCACTCGGCTGGGCCAA	0.622													A	34073121	G	A	34073121	2	1	84	1	0	0	0	0	0	0	0	1	6301	1103	39	1		1	GAS2L2	17	34073121	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08	4420079	34073121	47122089	31	5588											
ACACA	31	broad.mit.edu	37	chr17	35444255	35444255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggaagctcttcctacGtggaaggggaatccattgtg	10	9	14	8	1	1	0	0	0	1	0	3	3	3	3	2	5	2	2	2	5	4	3			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:35444255G>A	uc002hnm.3	-	55	7228	c.7037C>T	c.(7036-7038)aCg>aTg	p.T2346M	ACACA_uc002hnk.3_Missense_Mutation_p.T2268M|ACACA_uc002hnl.3_Missense_Mutation_p.T2288M|ACACA_uc002hnn.3_Missense_Mutation_p.T2346M|ACACA_uc002hno.3_Missense_Mutation_p.T2383M|ACACA_uc010cuy.3_Missense_Mutation_p.T991M|ACACA_uc010wdb.2_Missense_Mutation_p.T384M|ACACA_uc010wdc.2_Missense_Mutation_p.T472M	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	2346					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCTTCCTACGTGGAAGGGGA	0.517													A	35444255	G	A	35444255	3	1	84	1	0	0	0	0	1	0	0	0	106	1145	40	1	7	1	ACACA	17	35444255	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	1371134	35444255	45750955	32	5589											
FADS6	283985	broad.mit.edu	37	chr17	72875610	72875610	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatcgagtggccgaacGcccagtccagcacgggcagc	9	5	14	13	4	0	2	0	2	0	0	2	4	1	2	3	2	3	2	3	2	1	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr17:72875610G>C	uc002jmd.1	-	4	842	c.830C>G	c.(829-831)gCg>gGg	p.A277G	FADS6_uc010wrn.1_Missense_Mutation_p.A131G	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN	Homo sapiens fatty acid desaturase domain family, member 6 (FADS6), mRNA.	283					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGGCCGAACGCCCAGTCCAG	0.612													C	72875610	G	C	72875610	3	2	84	1	0	0	0	0	1	0	0	0	5413	1087	38	4	230	4	FADS6	17	72875610	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08	37431355	72875610	8319600	33	5590											
KLK15	55554	broad.mit.edu	37	chr19	51330190	51330190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgggacaccaggccccagCcagacaccacacaggcctcc	10	3	10	18	0	0	1	0	0	0	1	1	2	1	2	7	3	1	0	7	3	0	0			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr19:51330190C>A	uc002ptl.3	-	2	456	c.425G>T	c.(424-426)gGc>gTc	p.G142V	KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Missense_Mutation_p.G142V|KLK15_uc002pto.3_Missense_Mutation_p.G141V|KLK15_uc010ych.2_Intron|KLK15_uc010yci.2_Missense_Mutation_p.G141V|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	142	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGGCCCCAGCCAGACACCAC	0.692													A	51330190	C	A	51330190	3	1	84	1	0	0	0	0	1	0	0	0	8461	739	26	4	357	4	KLK15	19	51330190	Missense_Mutation	SNP	C	TCGA-06-2569-01A-01D-1494-08		51330190	7798793	34	5591											
CD93	22918	broad.mit.edu	37	chr20	23065723	23065723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggctcatagccaacccaGcattcgcagcggaagccccc	9	4	9	19	3	1	0	1	0	0	0	2	1	1	1	5	2	5	3	5	2	3	2			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:23065723G>A	uc002wsv.3	-	0	1255	c.1107C>T	c.(1105-1107)tgC>tgT	p.C369C		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	369	EGF-like 3; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCAACCCAGCATTCGCAGC	0.642													A	23065723	G	A	23065723	2	1	84	1	0	0	0	0	0	0	0	1	3077	963	34	2		2	CD93	20	23065723	Silent	SNP	G	TCGA-06-2569-01A-01D-1494-08		23065723	39959797	35	5592											
MANBAL	63905	broad.mit.edu	37	chr20	35944753	35944753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctgaggtgacgaggAagcccaaggctgctgttcct	9	8	15	9	1	0	2	0	2	0	0	1	5	1	3	2	3	3	4	2	3	3	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chr20:35944753A>G	uc002xgu.3	+	3	405	c.193A>G	c.(193-195)Aag>Gag	p.K65E	MANBAL_uc002xgv.3_Missense_Mutation_p.K65E|MANBAL_uc002xgw.3_Non-coding_Transcript	NM_022077	NP_071360	Q9NQG1	MANBL_HUMAN	Homo sapiens mannosidase, beta A, lysosomal-like (MANBAL), transcript variant 1, mRNA.	65						integral to membrane				large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		Myeloproliferative disorder(115;0.00878)				GGTGACGAGGAAGCCCAAGGC	0.552													G	35944753	A	G	35944753	3	3	84	1	0	0	0	0	1	0	0	0	9295	247	9	3	199	3	MANBAL	20	35944753	Missense_Mutation	SNP	A	TCGA-06-2569-01A-01D-1494-08	12879030	35944753	27080767	36	5593											
PCDH19	57526	broad.mit.edu	37	chrX	99663291	99663291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggacatgacctcgagcGagatgatgcacttggggctc	9	8	14	10	2	0	3	0	2	0	1	2	6	0	4	1	3	3	3	1	3	0	1			TCGA-06-2569-01A-01D-1494-08	TCGA-06-2569-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	617eec0b-78e9-4663-946c-c01e7e00a7de	586ddb97-949c-4bd1-97e0-d4db231b9828	g.chrX:99663291G>A	uc010nmz.3	-	0	1981	c.305C>T	c.(304-306)tCg>tTg	p.S102L	PCDH19_uc004efw.4_Missense_Mutation_p.S102L|PCDH19_uc004efx.4_Missense_Mutation_p.S102L	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	102	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTCGAGCGAGATGATGCA	0.557													A	99663291	G	A	99663291	3	1	84	1	0	0	0	0	1	0	0	0	11590	1059	37	1	3165	1	PCDH19	23	99663291	Missense_Mutation	SNP	G	TCGA-06-2569-01A-01D-1494-08		99663291	55607269	37	5594											
WDR78	79819	broad.mit.edu	37	chr1	67313167	67313167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttattttttttaaatacCttttaaaacaggaagctgac	13	18	5	5	0	0	1	0	1	0	0	0	2	0	2	1	1	3	2	1	1	7	9			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:67313167C>T	uc001dcx.3	-	8	1347	c.1291_splice	c.e8+1	p.E431_splice	WDR78_uc001dcy.3_Splice_Site_p.E431_splice|WDR78_uc009waw.3_Splice_Site_p.E177_splice|WDR78_uc009wax.3_Splice_Site	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	431	Glu-rich.									NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTAAATACCTTTTAAAACA	0.393													T	67313167	C	T	67313167	3	4	85	1	0	0	0	0	1	0	0	0	17430	695	24	2	1352	2	WDR78	1	67313167	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08		67313167	181937454	1	5595											
FLG	2312	broad.mit.edu	37	chr1	152278655	152278655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccagaccacctctcagagtCttctgaatgtccctcactgt	8	11	6	16	0	4	3	2	1	3	2	6	3	5	3	4	0	0	0	4	0	1	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:152278655C>T	uc001ezu.1	-	2	8743	c.8707G>A	c.(8707-8709)Gac>Aac	p.D2903N		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2903	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTCAGAGTCTTCTGAATGT	0.562									Ichthyosis				T	152278655	C	T	152278655	3	4	85	1	0	0	0	0	1	0	0	0	5971	913	32	2	3482	2	FLG	1	152278655	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	84965488	152278655	96971966	2	5596											
OR2W3	343171	broad.mit.edu	37	chr1	248059605	248059605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcagaaggccttcggCacctgcggctcccatctcac	8	6	12	15	2	1	1	1	0	1	1	4	2	2	2	3	5	1	3	3	5	2	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr1:248059605C>T	uc010pzb.2	+	0	717	c.717C>T	c.(715-717)ggC>ggT	p.G239G	OR2W3_uc001idp.1_Silent_p.G239G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G239V(1)		breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AGGCCTTCGGCACCTGCGGCT	0.522													T	248059605	C	T	248059605	2	4	85	1	0	0	0	0	0	0	0	1	11109	697	25	2		2	OR2W3	1	248059605	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	95780950	248059605	1191016	3	5597											
C2orf55	343990	broad.mit.edu	37	chr2	99438353	99438353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcggccttttctccgccgTcctgggctccttcctgggtt	1	13	11	16	3	1	0	0	0	1	0	5	0	4	0	6	3	1	2	6	3	0	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:99438353T>C	uc002szf.1	-	6	2677	c.2383A>G	c.(2383-2385)Acg>Gcg	p.T795A		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	795	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TTCTCCGCCGTCCTGGGCTCC	0.721													C	99438353	T	C	99438353	3	2	85	1	0	0	0	0	1	0	0	0	2197	1667	58	3	521	3	C2orf55	2	99438353	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		99438353	143761020	4	5598											
RIF1	55183	broad.mit.edu	37	chr2	152322631	152322631	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaatctcatcacctgttaaTaaggtaaggggaatgaggct	14	10	11	6	0	2	1	2	1	1	0	3	3	2	2	1	4	0	3	1	4	5	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:152322631T>C	uc002txm.3	+	29	6758	c.6597T>C	c.(6595-6597)aaT>aaC	p.N2199N	RIF1_uc002txn.3_Silent_p.N2199N|RIF1_uc002txl.3_Silent_p.N2199N|RIF1_uc002txo.3_Silent_p.N2199N|RIF1_uc002txp.3_Non-coding_Transcript	NM_018151	NP_060621	Q5UIP0	RIF1_HUMAN	Homo sapiens RAP1 interacting factor homolog (yeast) (RIF1), transcript variant 1, mRNA.	2199	Interaction with condensed chromosomes in telophase.				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	p.N2199H(1)		NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CACCTGTTAATAAGGTAAGGG	0.398													C	152322631	T	C	152322631	2	2	85	1	0	0	0	0	0	0	0	1	13448	1403	49	3		3	RIF1	2	152322631	Silent	SNP	T	TCGA-06-2570-01A-01D-1495-08	52884278	152322631	90876742	5	5599											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	85	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	56790481	209113112	34086261	6	5600											
RUFY4	285180	broad.mit.edu	37	chr2	218940356	218940356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtccttcagggacacGcaacaaaggaagactctacc	12	6	10	13	1	2	1	1	0	1	1	3	3	3	3	3	3	2	1	3	3	4	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:218940356G>A	uc010fvl.2	+	8	1659	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	RUFY4_uc002vgw.3_Missense_Mutation_p.A208T	NM_198483	NP_940885	Q6ZNE9	RUFY4_HUMAN	Homo sapiens RUN and FYVE domain containing 4 (RUFY4), transcript variant 1, mRNA.	381							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGACACGCAACAAAGGA	0.622													A	218940356	G	A	218940356	3	1	85	1	0	0	0	0	1	0	0	0	13832	1087	38	1	1167	1	RUFY4	2	218940356	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	9827244	218940356	24259017	7	5601											
CHRND	1144	broad.mit.edu	37	chr2	233392979	233392979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggattccagggctggaCagacaaccggctgaagtgga	10	8	15	8	1	0	2	0	1	0	1	1	5	1	5	2	5	1	2	2	5	2	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:233392979C>A	uc002vsw.3	+	3	255	c.251C>A	c.(250-252)aCa>aAa	p.T84K	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.T69K|CHRND_uc010zmh.2_5'UTR	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	84					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAGGGCTGGACAGACAACCGG	0.577													A	233392979	C	A	233392979	3	1	85	1	0	0	0	0	1	0	0	0	3424	478	17	4	265	4	CHRND	2	233392979	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	14452623	233392979	9806394	8	5602											
FARP2	9855	broad.mit.edu	37	chr2	242423744	242423744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcccctccaaggcatgCtggtgagtggtcttgcaccc	5	11	10	15	0	1	1	0	1	1	0	4	1	4	1	5	3	2	3	5	3	1	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr2:242423744C>T	uc002wbi.2	+	20	2583	c.2419C>T	c.(2419-2421)Ctg>Ttg	p.L807L		NM_014808	NP_055623	O94887	FARP2_HUMAN	Homo sapiens FERM, RhoGEF and pleckstrin domain protein 2 (FARP2), mRNA.	807	PH 1.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		CCAAGGCATGCTGGTGAGTGG	0.587													T	242423744	C	T	242423744	2	4	85	1	0	0	0	0	0	0	0	1	5726	796	28	2		2	FARP2	2	242423744	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	9030765	242423744	775629	9	5603											
CCR3	1232	broad.mit.edu	37	chr3	46307517	46307517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtgacagaggtgatcGcctactcccactgctgcatg	7	10	12	12	1	0	3	0	2	0	1	2	3	1	3	2	2	4	3	2	2	1	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:46307517G>A	uc003cpl.2	+	2	1998	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	CCR3_uc003cpg.2_Missense_Mutation_p.A290T|CCR3_uc003cpk.2_Missense_Mutation_p.A311T|CCR3_uc003cpi.2_Missense_Mutation_p.A290T|CCR3_uc010hjb.2_Missense_Mutation_p.A308T|CCR3_uc003cpj.2_Missense_Mutation_p.A290T|CCR3_uc021wwz.1_Missense_Mutation_p.A290T	NM_178329	NP_847899	P51677	CCR3_HUMAN	Homo sapiens chemokine (C-C motif) receptor 3 (CCR3), transcript variant 2, mRNA.	290					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane		p.H323Y(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		AGAGGTGATCGCCTACTCCCA	0.522													A	46307517	G	A	46307517	3	1	85	1	0	0	0	0	1	0	0	0	2972	1087	38	1	937	1	CCR3	3	46307517	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		46307517	151714913	10	5604											
DNAH1	25981	broad.mit.edu	37	chr3	52417902	52417902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagaggtcttccgagctcGtctgaggcagtttccctccc	5	10	12	14	3	2	2	0	1	2	1	6	4	5	2	3	3	1	3	3	3	0	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:52417902G>A	uc011bef.2	+	51	8438	c.8177G>A	c.(8176-8178)cGt>cAt	p.R2726H	DNAH1_uc003ddv.3_5'Flank	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2726	AAA 4 (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)		TTCCGAGCTCGTCTGAGGCAG	0.587													A	52417902	G	A	52417902	3	1	85	1	0	0	0	0	1	0	0	0	4636	1145	40	1	8379	1	DNAH1	3	52417902	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	6110385	52417902	145604528	11	5605											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721982	135721982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtcacagtcagttgaccGgtcagacccttgtagatctt	10	12	9	10	1	4	3	3	1	1	2	4	3	4	3	2	1	0	2	2	1	2	5			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:135721982G>A	uc003eqv.2	+	1	2259	c.1642G>A	c.(1642-1644)Ggt>Agt	p.G548S	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	548					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCAGTTGACCGGTCAGACCCT	0.398													A	135721982	G	A	135721982	3	1	85	1	0	0	0	0	1	0	0	0	12470	1116	39	1	1644	1	PPP2R3A	3	135721982	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	83304080	135721982	62300448	12	5606											
PIK3CA	5290	broad.mit.edu	37	chr3	178936083	178936083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacgagatcctctctctgAaatcactgagcaggagaaag	14	8	9	10	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:178936083A>T	uc003fjk.3	+	9	1782	c.1625A>T	c.(1624-1626)gAa>gTa	p.E542V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(686)|p.E542V(16)|p.E542Q(8)|p.E542A(6)|p.(542_545)E>K(4)|p.E542G(3)|p.S541T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCTCTCTCTGAAATCACTGAG	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178936083	A	T	178936083	3	4	85	1	0	0	0	0	1	0	0	0	11990	246	9	5	1659	5	PIK3CA	3	178936083	Missense_Mutation	SNP	A	TCGA-06-2570-01A-01D-1495-08	43214101	178936083	19086347	13	5607											
LEPREL1	55214	broad.mit.edu	37	chr3	189681756	189681756	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaactcaccaattctctAtaaagtgggtccaaggtgaa	15	9	9	8	0	2	2	1	1	1	1	4	3	3	2	2	2	1	0	2	2	7	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr3:189681756A>G	uc011bsk.2	-	13	2413	c.2025T>C	c.(2023-2025)taT>taC	p.Y675Y	LEPREL1_uc003fsg.3_Silent_p.Y494Y	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	675					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAATTCTCTATAAAGTGGGT	0.483													G	189681756	A	G	189681756	2	3	85	1	0	0	0	0	0	0	0	1	8789	456	16	3		3	LEPREL1	3	189681756	Silent	SNP	A	TCGA-06-2570-01A-01D-1495-08	10745673	189681756	8340674	14	5608											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239938	5239938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtggactggcccggccGgtacaaattttcgggcacta	8	8	13	12	4	0	0	0	0	0	0	1	2	0	1	3	5	1	2	3	5	3	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:5239938G>A	uc003jdl.3	+	15	2561	c.2423G>A	c.(2422-2424)cGg>cAg	p.R808Q	ADAMTS16_uc003jdk.1_Missense_Mutation_p.R808Q	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	808	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGCCCGGCCGGTACAAATTT	0.512													A	5239938	G	A	5239938	3	1	85	1	0	0	0	0	1	0	0	0	261	1116	39	1	2485	1	ADAMTS16	5	5239938	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		5239938	175675322	15	5609											
SKP2	6502	broad.mit.edu	37	chr5	36171807	36171807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacccagctgaatcttagCggctacagaaagaatctcca	14	8	7	12	1	3	3	1	1	2	2	4	3	3	3	2	1	3	2	2	1	5	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:36171807C>A	uc003jkc.2	+	6	1093	c.873C>A	c.(871-873)agC>agA	p.S291R	SKP2_uc003jkd.3_Missense_Mutation_p.S291R|SKP2_uc011cou.2_Missense_Mutation_p.S77R	NM_005983	NP_005974	Q13309	SKP2_HUMAN	Homo sapiens S-phase kinase-associated protein 2 (p45) (SKP2), transcript variant 1, mRNA.	291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAATCTTAGCGGCTACAGAA	0.463													A	36171807	C	A	36171807	3	1	85	1	0	0	0	0	1	0	0	0	14456	767	27	4	899	4	SKP2	5	36171807	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	30931869	36171807	144743453	16	5610											
HCN1	348980	broad.mit.edu	37	chr5	45695974	45695974	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccccccgccggctcctcGccgccgccgccgccgccgcc	2	2	11	26	9	0	0	0	0	0	0	2	0	1	0	12	1	1	1	12	1	1	0	rs56063136		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:45695974G>C	uc003jok.3	-	0	247	c.222C>G	c.(220-222)ggC>ggG	p.G74G		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	74	Gly-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.G72_G74delGGG(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CCGGCTCCTcgccgccgccgc	0.766													C	45695974	G	C	45695974	2	2	85	1	0	0	0	0	0	0	0	1	7051	1074	38	4		4	HCN1	5	45695974	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08	9524167	45695974	135219286	17	5611											
MAP3K1	4214	broad.mit.edu	37	chr5	56177898	56177898	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccaaagccaatggttcaAacaaaaggcagaccccacag	18	3	7	13	0	1	1	1	0	0	1	1	1	1	1	4	2	3	2	4	2	6	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:56177898A>G	uc003jqw.4	+	13	3372	c.2871A>G	c.(2869-2871)caA>caG	p.Q957Q		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	957					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAATGGTTCAAACAAAAGGCA	0.443													G	56177898	A	G	56177898	2	3	85	1	0	0	0	0	0	0	0	1	9318	11	1	3		3	MAP3K1	5	56177898	Silent	SNP	A	TCGA-06-2570-01A-01D-1495-08	10481924	56177898	124737362	18	5612											
ELOVL7	79993	broad.mit.edu	37	chr5	60053463	60053463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttagaagggcatggaatgttCccaaaccacctggaaaataa	16	8	9	8	0	0	1	0	0	0	1	1	3	1	3	3	3	1	2	3	3	7	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr5:60053463C>T	uc003jsi.4	-	7	709	c.509G>A	c.(508-510)gGa>gAa	p.G170E	ELOVL7_uc011cqo.2_Missense_Mutation_p.G83E|ELOVL7_uc010iwk.3_Missense_Mutation_p.G170E|ELOVL7_uc003jsj.4_Missense_Mutation_p.G157E	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	170					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding	p.G170R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				ATGGAATGTTCCCAAACCACC	0.378													T	60053463	C	T	60053463	3	4	85	1	0	0	0	0	1	0	0	0	5120	855	30	2	344	2	ELOVL7	5	60053463	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	3875565	60053463	120861797	19	5613											
KCNK16	83795	broad.mit.edu	37	chr6	39285601	39285601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccatctttcaatggcGgccagatgggcacgcagccc	7	8	10	16	2	2	1	1	0	1	1	4	1	4	1	4	3	1	2	4	3	1	1	rs79043904		TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr6:39285601G>A	uc003oor.4	-	2	470	c.456C>T	c.(454-456)gcC>gcT	p.A152A	KCNK16_uc003ooq.3_Silent_p.A152A|KCNK16_uc010jwy.3_Silent_p.A152A|KCNK16_uc011dtz.1_Silent_p.A152A	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.	152						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TTTCAATGGCGGCCAGATGGG	0.592													A	39285601	G	A	39285601	2	1	85	1	0	0	0	0	0	0	0	1	8121	1103	39	1		1	KCNK16	6	39285601	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08		39285601	131829466	20	5614											
AVL9	23080	broad.mit.edu	37	chr7	32598232	32598232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgatgactgtgttatcccTttttccaggtaagaaaacag	12	13	8	8	0	0	3	0	2	0	1	2	3	2	3	2	1	1	2	2	1	4	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:32598232T>C	uc003tcv.1	+	8	817	c.671T>C	c.(670-672)cTt>cCt	p.L224P	AVL9_uc011kai.2_Missense_Mutation_p.L224P|AVL9_uc010kwj.1_Missense_Mutation_p.L65P	NM_015060	NP_055875	Q8NBF6	AVL9_HUMAN	Homo sapiens AVL9 homolog (S. cerevisiase) (AVL9), mRNA.	224						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GTGTTATCCCTTTTTCCAGGT	0.328													C	32598232	T	C	32598232	3	2	85	1	0	0	0	0	1	0	0	0	1233	1609	56	3	705	3	AVL9	7	32598232	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		32598232	126540431	21	5615											
ABCB4	5244	broad.mit.edu	37	chr7	87069034	87069034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtgtccaatgctgaCgtggcctcatccagcagaag	8	11	10	12	1	2	2	1	1	1	1	4	2	4	2	3	1	2	2	3	1	2	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87069034C>T	uc003uiv.1	-	13	1756	c.1680G>A	c.(1678-1680)acG>acA	p.T560T	ABCB4_uc003uiw.1_Silent_p.T560T|ABCB4_uc003uix.1_Silent_p.T560T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	560	ABC transporter 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCAATGCTGACGTGGCCTCAT	0.537													T	87069034	C	T	87069034	2	4	85	1	0	0	0	0	0	0	0	1	43	523	19	1		1	ABCB4	7	87069034	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08	54470802	87069034	72069629	22	5616											
ABCB1	5243	broad.mit.edu	37	chr7	87133728	87133728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaatcacaatgcaggtgCggccttctctggctttgtcc	7	11	11	12	1	2	0	1	0	1	0	4	1	3	0	2	3	3	3	2	3	2	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr7:87133728C>T	uc003uiz.2	-	28	4167	c.3674G>A	c.(3673-3675)cGc>cAc	p.R1225H	ABCB1_uc011khc.2_Missense_Mutation_p.R1161H	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1225	ABC transporter 2.				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	p.R1225C(1)		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)	AATGCAGGTGCGGCCTTCTCT	0.453													T	87133728	C	T	87133728	3	4	85	1	0	0	0	0	1	0	0	0	40	768	27	1	172	1	ABCB1	7	87133728	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	64694	87133728	72004935	23	5617											
LRRC6	23639	broad.mit.edu	37	chr8	133584685	133584685	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtcacatcagggaatgAgtgcttgctagggtctactt	9	13	12	7	0	3	1	2	1	1	0	3	2	3	2	0	2	3	3	0	2	4	5			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:133584685A>T	uc003ytk.3	-	11	1344	c.1270T>A	c.(1270-1272)Tca>Aca	p.S424T	LRRC6_uc022bbp.1_Missense_Mutation_p.S424T|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	424						cytoplasm		p.H423Q(1)		breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TCAGGGAATGAGTGCTTGCTA	0.373													T	133584685	A	T	133584685	3	4	85	1	0	0	0	0	1	0	0	0	9086	304	11	5	134	5	LRRC6	8	133584685	Missense_Mutation	SNP	A	TCGA-06-2570-01A-01D-1495-08		133584685	12779337	24	5618											
NDRG1	10397	broad.mit.edu	37	chr8	134258899	134258899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtccaattttgagttgCactccacctgcacaagaggg	9	11	11	10	0	0	2	0	1	0	1	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr8:134258899C>T	uc003yuh.2	-	12	1401	c.815G>A	c.(814-816)tGc>tAc	p.C272Y	NDRG1_uc003yue.1_5'Flank|NDRG1_uc003yuf.1_Missense_Mutation_p.C83Y|NDRG1_uc003yug.2_Missense_Mutation_p.C272Y|NDRG1_uc010mee.2_Missense_Mutation_p.C191Y|NDRG1_uc010mef.2_Missense_Mutation_p.C206Y|NDRG1_uc011ljh.1_Missense_Mutation_p.C100Y|NDRG1_uc011lji.1_Missense_Mutation_p.C19Y	NM_001135242	NP_006087	Q92597	NDRG1_HUMAN	Homo sapiens N-myc downstream regulated 1 (NDRG1), transcript variant 1, mRNA.	272					cellular response to hypoxia|response to metal ion	cytoplasm|microtubule cytoskeleton|nucleus|plasma membrane	protein binding		NDRG1/ERG(5)	endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(4)|prostate(1)|skin(1)	17	all_epithelial(106;4.26e-24)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			TTTTGAGTTGCACTCCACCTG	0.473			T	ERG	prostate								T	134258899	C	T	134258899	3	4	85	1	0	0	0	0	1	0	0	0	10327	710	25	2	385	2	NDRG1	8	134258899	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	674214	134258899	12105123	25	5619											
RASEF	158158	broad.mit.edu	37	chr9	85615141	85615141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaagtctcatgaggaaacTagacttccccactgcagcgt	12	8	9	12	1	1	2	1	1	1	1	3	3	2	3	2	1	3	2	2	1	3	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr9:85615141T>C	uc004amo.1	-	11	1927	c.1666A>G	c.(1666-1668)Agt>Ggt	p.S556G		NM_152573	NP_689786	Q8IZ41	RASEF_HUMAN	Homo sapiens RAS and EF-hand domain containing (RASEF), mRNA.	556					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						ATGAGGAAACTAGACTTCCCC	0.458													C	85615141	T	C	85615141	3	2	85	1	0	0	0	0	1	0	0	0	13156	1522	53	3	580	3	RASEF	9	85615141	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		85615141	55598290	26	5620											
GYLTL1B	120071	broad.mit.edu	37	chr11	45945056	45945056	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccatcgtgtgtgcggggcaTaactccagccgagacgtcat	8	8	13	12	4	1	1	1	0	0	1	3	2	2	1	3	2	3	1	3	2	1	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:45945056T>C	uc001nbv.1	+	2	429	c.318T>C	c.(316-318)caT>caC	p.H106H	GYLTL1B_uc001nbw.1_Silent_p.H75H|GYLTL1B_uc001nbx.1_Silent_p.H106H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	106					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups	p.H106Q(2)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GTGCGGGGCATAACTCCAGCC	0.627													C	45945056	T	C	45945056	2	2	85	1	0	0	0	0	0	0	0	1	6962	1403	49	3		3	GYLTL1B	11	45945056	Silent	SNP	T	TCGA-06-2570-01A-01D-1495-08		45945056	89061460	27	5621											
AMBRA1	55626	broad.mit.edu	37	chr11	46568697	46568697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacctccccatctaggCagccagaagcaataaggcct	12	7	7	15	0	1	1	0	0	1	1	3	1	3	1	6	2	3	2	6	2	5	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:46568697C>A	uc001ncv.2	-	3	658	c.344G>T	c.(343-345)tGc>tTc	p.C115F	AMBRA1_uc009ylc.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncu.1_Missense_Mutation_p.C115F|AMBRA1_uc010rgu.1_Missense_Mutation_p.C115F|AMBRA1_uc001ncw.2_Missense_Mutation_p.C115F|AMBRA1_uc001ncx.2_Missense_Mutation_p.C115F	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	115					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCCATCTAGGCAGCCAGAAGC	0.443													A	46568697	C	A	46568697	3	1	85	1	0	0	0	0	1	0	0	0	565	710	25	4	3346	4	AMBRA1	11	46568697	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	623641	46568697	88437819	28	5622											
DDB2	1643	broad.mit.edu	37	chr11	47254492	47254492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacattctacgagtttttgCcagctcagacaccatcaagt	12	11	6	12	1	3	1	2	0	1	1	3	2	3	1	2	0	4	2	2	0	3	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:47254492C>T	uc001neb.2	+	3	779	c.584C>T	c.(583-585)gCc>gTc	p.A195V	DDB2_uc001nec.2_Non-coding_Transcript|DDB2_uc009yli.1_Missense_Mutation_p.A131V|DDB2_uc001ned.2_Intron|DDB2_uc001nee.2_Intron|DDB2_uc001nef.2_Intron	NM_000107	NP_000098	Q92466	DDB2_HUMAN	Homo sapiens damage-specific DNA binding protein 2, 48kDa (DDB2), mRNA.	195					nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						CGAGTTTTTGCCAGCTCAGAC	0.453			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	47254492	C	T	47254492	3	4	85	1	0	0	0	0	1	0	0	0	4358	739	26	2	598	2	DDB2	11	47254492	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	685795	47254492	87752024	29	5623											
INTS5	80789	broad.mit.edu	37	chr11	62416142	62416142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcatctaaaaagggcacCaagcggggaggtgggggcgg	11	3	19	8	3	1	0	0	0	1	0	1	1	1	1	1	7	2	2	1	7	4	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:62416142C>A	uc001nud.3	-	1	1463	c.1410G>T	c.(1408-1410)ttG>ttT	p.L470F	GANAB_uc001nua.3_5'Flank|GANAB_uc001nub.3_5'Flank|GANAB_uc001nuc.3_5'Flank|GANAB_uc010rma.2_5'Flank|GANAB_uc010rmb.2_5'Flank	NM_030628	NP_085131	Q6P9B9	INT5_HUMAN	Homo sapiens integrator complex subunit 5 (INTS5), mRNA.	470					snRNA processing	integral to membrane|integrator complex	protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	36						AAAAGGGCACCAAGCGGGGAG	0.592													A	62416142	C	A	62416142	3	1	85	1	0	0	0	0	1	0	0	0	7839	593	21	4	1653	4	INTS5	11	62416142	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	15161650	62416142	72590374	30	5624											
KCNK4	50801	broad.mit.edu	37	chr11	64064379	64064379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccctgggagggggtgcGgacccagaaaccaactcgac	10	4	15	12	2	0	1	0	0	0	1	1	5	0	3	3	4	4	0	3	4	2	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr11:64064379G>A	uc001nzj.1	+	2	542	c.219G>A	c.(217-219)gcG>gcA	p.A73A	KCNK4_uc009ypl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzk.1_Missense_Mutation_p.R7Q|KCNK4_uc010rnk.1_5'UTR|KCNK4_uc001nzl.1_Missense_Mutation_p.R7Q|KCNK4_uc001nzm.4_Non-coding_Transcript|KCNK4_uc001nzn.1_Silent_p.A73A|KCNK4_uc001nzo.2_Silent_p.A73A|C11orf20_uc009ypm.3_5'Flank	NM_033310	NP_201567	Q9NYG8	KCNK4_HUMAN	Homo sapiens potassium channel, subfamily K, member 4 (KCNK4), mRNA.	73						integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(2)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	10						GAGGGGGTGCGGACCCAGAAA	0.617													A	64064379	G	A	64064379	2	1	85	1	0	0	0	0	0	0	0	1	8126	1103	39	1		1	KCNK4	11	64064379	Silent	SNP	G	TCGA-06-2570-01A-01D-1495-08	1648237	64064379	70942137	31	5625											
IRAK3	11213	broad.mit.edu	37	chr12	66597538	66597538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttcgtcatattgaaaagTatgtagaccaaggtaaaagt	16	12	9	4	1	1	2	1	1	0	1	2	2	1	2	1	1	0	4	1	1	8	6			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr12:66597538T>C	uc001sth.3	+	1	283	c.181T>C	c.(181-183)Tat>Cat	p.Y61H	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	61	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TATTGAAAAGTATGTAGACCA	0.398													C	66597538	T	C	66597538	3	2	85	1	0	0	0	0	1	0	0	0	7882	1638	57	3	187	3	IRAK3	12	66597538	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		66597538	67254357	32	5626											
STK24	8428	broad.mit.edu	37	chr13	99127230	99127230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagacagcaggacgttggCcgctgcaaaagaaagccaag	14	4	12	11	2	1	2	1	0	0	2	1	3	1	3	2	2	3	4	2	2	4	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr13:99127230C>T	uc001vnm.1	-	4	713	c.478G>A	c.(478-480)Gcc>Acc	p.A160T	STK24_uc001vnn.1_Missense_Mutation_p.A148T|STK24_uc010tim.1_Missense_Mutation_p.A129T	NM_003576	NP_003567	Q9Y6E0	STK24_HUMAN	Homo sapiens serine/threonine kinase 24 (STK24), transcript variant 1, mRNA.	160	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AGGACGTTGGCCGCTGCAAAA	0.627													T	99127230	C	T	99127230	3	4	85	1	0	0	0	0	1	0	0	0	15389	739	26	2	881	2	STK24	13	99127230	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08		99127230	16042648	33	5627											
POTEG	404785	broad.mit.edu	37	chr14	19566050	19566050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactacaaagaaaaacagaTgctaaaagtctcttctgaaa	19	9	6	7	0	2	4	0	2	2	2	3	4	2	4	0	0	3	1	0	0	7	3			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:19566050T>C	uc001vuz.1	+	5	1146	c.1094T>C	c.(1093-1095)aTg>aCg	p.M365T	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript|P712P_uc001vvb.3_Intron	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	365				M -> I (in Ref. 1; AAS58868).						cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						GAAAAACAGATGCTAAAAGTC	0.318													C	19566050	T	C	19566050	3	2	85	1	0	0	0	0	1	0	0	0	12343	1464	51	3	1116	3	POTEG	14	19566050	Missense_Mutation	SNP	T	TCGA-06-2570-01A-01D-1495-08		19566050	87783490	34	5628											
NFATC4	4776	broad.mit.edu	37	chr14	24838971	24838971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccgcatcacctccatctctCccacgccggagccgccagca	7	6	7	21	4	2	0	1	0	1	0	6	1	5	1	7	1	2	2	7	1	0	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:24838971C>T	uc001wpc.3	+	1	688	c.367C>T	c.(367-369)Ccc>Tcc	p.P123S	NFATC4_uc010alr.3_Missense_Mutation_p.P186S|NFATC4_uc010tok.2_Missense_Mutation_p.P186S|NFATC4_uc010tol.2_Missense_Mutation_p.P186S|NFATC4_uc010als.2_Missense_Mutation_p.P136S|NFATC4_uc010too.2_Missense_Mutation_p.P136S|NFATC4_uc010tom.2_Missense_Mutation_p.P136S|NFATC4_uc010ton.2_Missense_Mutation_p.P136S|NFATC4_uc010toq.2_Missense_Mutation_p.P155S|NFATC4_uc010alt.3_Missense_Mutation_p.P155S|NFATC4_uc010top.2_Missense_Mutation_p.P155S|NFATC4_uc010alu.3_Intron|NFATC4_uc010tor.2_Missense_Mutation_p.P123S|NFATC4_uc010tos.2_Missense_Mutation_p.P53S|NFATC4_uc010tot.2_Missense_Mutation_p.P111S|NFATC4_uc010tou.2_Missense_Mutation_p.P53S|NFATC4_uc010tov.2_Missense_Mutation_p.P111S|NFATC4_uc010tow.2_Missense_Mutation_p.P53S|NFATC4_uc010alv.3_Missense_Mutation_p.P111S|NFATC4_uc010tox.2_Missense_Mutation_p.P53S	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	123	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTCCATCTCTCCCACGCCGGA	0.677													T	24838971	C	T	24838971	3	4	85	1	0	0	0	0	1	0	0	0	10441	855	30	2	566	2	NFATC4	14	24838971	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	5272921	24838971	82510569	35	5629											
MLH3	27030	broad.mit.edu	37	chr14	75514227	75514227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaagagggggatgtatcaGataatatgcaatctgtttgt	13	12	13	3	0	2	2	1	0	1	2	2	4	2	4	0	3	1	3	0	3	5	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr14:75514227G>C	uc001xrd.1	-	1	2348	c.2132C>G	c.(2131-2133)tCt>tGt	p.S711C	MLH3_uc001xre.1_Missense_Mutation_p.S711C|MLH3_uc010tuy.1_Non-coding_Transcript	NM_001040108	NP_001035197	Q9UHC1	MLH3_HUMAN	Homo sapiens mutL homolog 3 (E. coli) (MLH3), transcript variant 1, mRNA.	711					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		GGATGTATCAGATAATATGCA	0.363								Mismatch excision repair (MMR)					C	75514227	G	C	75514227	3	2	85	1	0	0	0	0	1	0	0	0	9693	942	33	4	2277	4	MLH3	14	75514227	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08	50675256	75514227	31835313	36	5630											
PKD1L2	114780	broad.mit.edu	37	chr16	81134885	81134885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacgatctccccttcctccGacagctgcaagagaaagaac	12	7	7	15	2	1	2	0	0	1	2	4	5	3	2	4	0	4	2	4	0	4	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr16:81134885G>A	uc002fgh.1	-	44	7217	c.7217C>T	c.(7216-7218)tCg>tTg	p.S2406L	PKD1L2_uc002fgf.1_Missense_Mutation_p.S208L|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2408	Interaction with GNAS and GNAI1.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCCTTCCTCCGACAGCTGCAA	0.443													A	81134885	G	A	81134885	3	1	85	1	0	0	0	0	1	0	0	0	12042	1059	37	1	160	1	PKD1L2	16	81134885	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		81134885	9219868	37	5631											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:7578524G>C	uc002gim.2	-	4	600	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_uc002gig.1_Missense_Mutation_p.Q136E|TP53_uc002gih.3_Missense_Mutation_p.Q136E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Q4E|TP53_uc010cnf.1_Missense_Mutation_p.Q4E|TP53_uc002gii.1_Missense_Mutation_p.Q4E|TP53_uc010cni.1_Missense_Mutation_p.Q136E|TP53_uc010cnh.1_Missense_Mutation_p.Q136E|TP53_uc002gij.2_Missense_Mutation_p.Q136E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Q43E|TP53_uc002gio.2_Missense_Mutation_p.Q4E|TP53_uc010vug.2_Missense_Mutation_p.Q97E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(67)|p.C135Y(53)|p.C135F(39)|p.C135W(22)|p.C135S(11)|p.C135R(9)|p.C135fs*35(9)|p.0?(8)|p.C135G(7)|p.C135*(7)|p.Q136E(6)|p.C135C(5)|p.Q136H(5)|p.C135fs*9(4)|p.Q136Q(4)|p.Q136P(3)|p.Q136fs*34(3)|p.Q136fs*13(3)|p.F134_T140>S(2)|p.Q136R(2)|p.K132_A138delKMFCQLA(2)|p.Q136K(2)|p.S127_Q136del10(2)|p.C135fs*14(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.C135_T140delCQLAKT(2)|p.C135_Q136insXXXXXX(2)|p.C135_Q136insX(2)|p.Q136L(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*36(1)|p.C135fs*15(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			C	7578524	G	C	7578524	3	2	85	1	0	0	0	0	1	0	0	0	16482	1357	47	4	892	4	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		7578524	73616686	38	5632											
SPATA20	64847	broad.mit.edu	37	chr17	48626428	48626428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagcggcgggggctggCccatgaatgtgtggctgact	6	7	17	11	2	0	2	0	2	0	0	0	2	0	2	2	5	2	3	2	5	1	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr17:48626428C>T	uc002ird.3	+	5	682	c.541C>T	c.(541-543)Ccc>Tcc	p.P181S	SPATA20_uc002irc.3_5'UTR|SPATA20_uc002ire.3_Missense_Mutation_p.P121S|SPATA20_uc002irf.3_Missense_Mutation_p.P165S|SPATA20_uc010wmv.1_Missense_Mutation_p.P191S|SPATA20_uc002irg.3_Non-coding_Transcript	NM_022827	NP_073738	Q8TB22	SPT20_HUMAN	Homo sapiens spermatogenesis associated 20 (SPATA20), mRNA.	165					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGGGGCTGGCCCATGAATGT	0.657													T	48626428	C	T	48626428	3	4	85	1	0	0	0	0	1	0	0	0	15102	739	26	2	563	2	SPATA20	17	48626428	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	41047904	48626428	32568782	39	5633											
TYK2	7297	broad.mit.edu	37	chr19	10473108	10473108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggggaactttcggagccGcaagctctgcatgccgtctg	8	9	13	11	3	2	0	0	0	2	0	3	2	2	2	2	3	5	3	2	3	3	1			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr19:10473108G>A	uc002moc.4	-	10	1879	c.1501C>T	c.(1501-1503)Cgg>Tgg	p.R501W	TYK2_uc010dxe.3_Missense_Mutation_p.R316W|TYK2_uc002mod.2_Missense_Mutation_p.R501W	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	501	SH2; atypical.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTTCGGAGCCGCAAGCTCTGC	0.677													A	10473108	G	A	10473108	3	1	85	1	0	0	0	0	1	0	0	0	16912	1086	38	1	2122	1	TYK2	19	10473108	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		10473108	48655875	40	5634											
CDH4	1002	broad.mit.edu	37	chr20	60504710	60504710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcctgtacctggaggcCgggatgtatgacgtccccat	7	9	12	13	3	0	1	0	1	0	0	2	3	2	3	5	3	1	3	5	3	2	2			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr20:60504710C>T	uc002ybn.2	+	12	2137	c.2049C>T	c.(2047-2049)gcC>gcT	p.A683A	CDH4_uc002ybr.2_Silent_p.A646A|CDH4_uc002ybp.2_Silent_p.A609A	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	683	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.A683A(4)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACCTGGAGGCCGGGATGTATG	0.547													T	60504710	C	T	60504710	2	4	85	1	0	0	0	0	0	0	0	1	3142	639	23	1		1	CDH4	20	60504710	Silent	SNP	C	TCGA-06-2570-01A-01D-1495-08		60504710	2520810	41	5635											
KRTAP12-4	386684	broad.mit.edu	37	chr21	46074201	46074201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccacctgctcagcagcCagtgggggtgctccaggtga	7	6	16	12	0	1	1	1	1	0	0	2	2	2	1	4	4	4	3	4	4	0	0			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chr21:46074201C>T	uc002zfs.1	-	0	376	c.331G>A	c.(331-333)Ggc>Agc	p.G111S	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198698	NP_941971	P60329	KR124_HUMAN	Homo sapiens keratin associated protein 12-4 (KRTAP12-4), mRNA.	111						keratin filament				lung(4)|ovary(1)|prostate(1)	6						GCTCAGCAGCCAGTGGGGGTG	0.622													T	46074201	C	T	46074201	3	4	85	1	0	0	0	0	1	0	0	0	8579	594	21	2	11	2	KRTAP12-4	21	46074201	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08		46074201	2055694	42	5636											
CDKL5	6792	broad.mit.edu	37	chrX	18597977	18597977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaatttttagaatatgctcGaattgctggaagaaatgcca	14	14	8	5	1	0	2	0	0	0	2	1	4	0	3	1	1	3	2	1	1	7	6			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:18597977G>A	uc004cym.3	+	5	545	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CDKL5_uc004cyn.3_Missense_Mutation_p.E98K|CDKL5_uc022btn.1_Missense_Mutation_p.E89K	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	98	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAATATGCTCGAATTGCTGGA	0.328													A	18597977	G	A	18597977	3	1	85	1	0	0	0	0	1	0	0	0	3187	1059	37	1	310	1	CDKL5	23	18597977	Missense_Mutation	SNP	G	TCGA-06-2570-01A-01D-1495-08		18597977	136672583	43	5637											
ZNF81	347344	broad.mit.edu	37	chrX	47775519	47775519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgcataagagaattCatacaggagagaaaccctat	17	8	8	8	0	1	3	1	0	0	3	2	6	2	4	2	1	3	1	2	1	5	4			TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:47775519C>A	uc022bvq.1	+	4	1723	c.1474C>A	c.(1474-1476)Cat>Aat	p.H492N	ZNF81_uc010nhy.2_Missense_Mutation_p.H492N	NM_007137	NP_009068	P51508	ZNF81_HUMAN	Homo sapiens zinc finger protein 81 (ZNF81), mRNA.	492						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TAAGAGAATTCATACAGGAGA	0.413													A	47775519	C	A	47775519	3	1	85	1	0	0	0	0	1	0	0	0	18273	826	29	4	1488	4	ZNF81	23	47775519	Missense_Mutation	SNP	C	TCGA-06-2570-01A-01D-1495-08	29177542	47775519	107495041	44	5638											
ATRX	546	broad.mit.edu	37	chrX	76909633	76909636	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															tgaaccttaatacgtcgcctTttctttttctgtttatagct																										TCGA-06-2570-01A-01D-1495-08	TCGA-06-2570-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04339769-517c-448d-a7ca-951f83608c60	abef86c9-df6a-477e-99e9-b8d2ac0641d0	g.chrX:76909633_76909636delTTTC	uc004ecp.4	-	13	4501_4504	c.4269_4272delGAAA	c.(4267-4272)aagaaafs	p.K1423fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K1385fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K1208fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K1355fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1423					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)	TACGTCGCCTTTTCTTTTTCTGTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76909636	TTTC	-	76909633	7	5	85	1	0	1	0	1	0	0	0	0	1213	1838	64	0	3294	0	ATRX	23	76909633	Frame_Shift_Del	DEL	TTTC	TCGA-06-2570-01A-01D-1495-08	29134114	76909633	78360927	45	5639											
TRIM62	55223	broad.mit.edu	37	chr1	33625475	33625475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctagcatggccttctggCgttcacgcagcagccggtgc	5	9	12	15	3	3	0	1	0	2	0	3	0	3	0	3	3	4	4	3	3	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:33625475C>T	uc001bxb.3	-	2	1213	c.575G>A	c.(574-576)cGc>cAc	p.R192H		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	192						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCCTTCTGGCGTTCACGCAG	0.652													T	33625475	C	T	33625475	3	4	86	1	0	0	0	0	1	0	0	0	16638	768	27	1	864	1	TRIM62	1	33625475	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		33625475	215625146	1	5640											
TIE1	7075	broad.mit.edu	37	chr1	43779028	43779028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacgcgctacctcttccGcatgcgggccagcattcagg	7	7	11	16	4	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:43779028G>A	uc001ciu.3	+	12	2327	c.2150G>A	c.(2149-2151)cGc>cAc	p.R717H	TIE1_uc010okd.2_Missense_Mutation_p.R717H|TIE1_uc010oke.2_Missense_Mutation_p.R672H|TIE1_uc009vwq.3_Missense_Mutation_p.R673H|TIE1_uc010okf.1_Missense_Mutation_p.R362H|TIE1_uc010okg.2_Missense_Mutation_p.R362H	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	717	Fibronectin type-III 3.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TACCTCTTCCGCATGCGGGCC	0.657													A	43779028	G	A	43779028	3	1	86	1	0	0	0	0	1	0	0	0	15993	1087	38	1	2200	1	TIE1	1	43779028	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	10153553	43779028	205471593	2	5641											
ZNHIT6	54680	broad.mit.edu	37	chr1	86173500	86173504	+	Frame_Shift_Del	DEL	CTTCT	CTTCT	-																															tgttttatctccaagttatcCttctcttccttcacttctga																										TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:86173500_86173504delCTTCT	uc001dlh.3	-	0	613_617	c.464_468delAGAAG	c.(463-468)gagaagfs	p.E155fs	ZNHIT6_uc010osc.2_Frame_Shift_Del_p.E116fs	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	155	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding	p.E155K(1)		autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CCAAGTTATCCTTCTCTTCCTTCAC	0.41													-	86173504	CTTCT	-	86173500	7	5	86	1	0	1	0	1	0	0	0	0	18308	680	24	0	984	0	ZNHIT6	1	86173500	Frame_Shift_Del	DEL	CTTCT	TCGA-06-5408-01A-01D-1696-08	42394472	86173500	163077121	3	5642											
FLG2	388698	broad.mit.edu	37	chr1	152325024	152325024	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttggccatgagtgtgTcctgaatgtgtatgtgagac	7	13	14	7	0	0	3	0	3	0	1	1	4	1	3	2	2	0	2	2	2	2	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:152325024T>C	uc001ezw.4	-	2	5311	c.5238A>G	c.(5236-5238)ggA>ggG	p.G1746G	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1746							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGAGTGTGTCCTGAATGTG	0.502													C	152325024	T	C	152325024	2	2	86	1	0	0	0	0	0	0	0	1	5972	1654	58	3		3	FLG2	1	152325024	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08	66151524	152325024	96925597	4	5643											
F5	2153	broad.mit.edu	37	chr1	169484809	169484809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctgtgttataattgccGttatcttcttgatcttgagt	7	18	8	8	1	3	2	0	2	3	0	3	2	3	2	2	0	2	2	2	0	3	7			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169484809G>A	uc001ggg.1	-	23	6546	c.6401C>T	c.(6400-6402)aCg>aTg	p.T2134M		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2134	F5/8 type C 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TATAATTGCCGTTATCTTCTT	0.388													A	169484809	G	A	169484809	3	1	86	1	0	0	0	0	1	0	0	0	5390	1145	40	1	281	1	F5	1	169484809	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	17159785	169484809	79765812	5	5644											
SELE	6401	broad.mit.edu	37	chr1	169698774	169698774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggttttggaaacattccacGaacccattggctggatttgt	9	13	11	8	1	0	0	0	0	0	0	1	3	1	2	2	4	2	2	2	4	2	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr1:169698774G>A	uc001ggm.4	-	5	913	c.756C>T	c.(754-756)ttC>ttT	p.F252F	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	252	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity	p.F252F(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					AACATTCCACGAACCCATTGG	0.428													A	169698774	G	A	169698774	2	1	86	1	0	0	0	0	0	0	0	1	14106	1049	37	1		1	SELE	1	169698774	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	213965	169698774	79551847	6	5645											
CAD	790	broad.mit.edu	37	chr2	27459352	27459352	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgctgacttctccgtgccCctaatcatcgatatcaagtg	8	11	8	14	3	3	1	2	1	1	0	5	2	3	1	4	0	1	1	4	0	3	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:27459352C>T	uc002rji.3	+	25	4437	c.4275C>T	c.(4273-4275)ccC>ccT	p.P1425P	CAD_uc010eyw.3_Silent_p.P1362P	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	1425	CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TCTCCGTGCCCCTAATCATCG	0.557													T	27459352	C	T	27459352	2	4	86	1	0	0	0	0	0	0	0	1	2591	610	22	2		2	CAD	2	27459352	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08		27459352	215740021	7	5646											
STRN	6801	broad.mit.edu	37	chr2	37078198	37078198	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgagcagtgatgctgatCggaagagtaggatgactgat	12	10	14	5	1	1	6	1	5	0	1	2	8	1	8	0	2	2	3	0	2	2	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:37078198C>T	uc002rpn.3	-	15	2040	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P	STRN_uc010ezx.3_Silent_p.P640P	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	677				P -> S (in Ref. 1; CAA11560).	dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TGATGCTGATCGGAAGAGTAG	0.303													T	37078198	C	T	37078198	2	4	86	1	0	0	0	0	0	0	0	1	15425	871	31	1		1	STRN	2	37078198	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	9618846	37078198	206121175	8	5647											
XIRP2	129446	broad.mit.edu	37	chr2	167760222	167760222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagttcgaagccggaagAgaaggattctgtggacaaga	13	7	16	5	2	1	2	0	0	1	2	2	8	1	6	1	4	1	1	1	4	4	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:167760222A>G	uc002udx.3	+	1	319	c.230A>G	c.(229-231)gAg>gGg	p.E77G	XIRP2_uc010fpn.3_Missense_Mutation_p.E77G|XIRP2_uc010fpo.3_Missense_Mutation_p.E77G	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCCGGAAGAGAAGGATTCT	0.522													G	167760222	A	G	167760222	3	3	86	1	0	0	0	0	1	0	0	0	17532	304	11	3	232	3	XIRP2	2	167760222	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	130682024	167760222	75439151	9	5648											
TRAK2	66008	broad.mit.edu	37	chr2	202252532	202252532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggtgcagagagaggcaagGctctctgtcggggtgacaca	9	7	17	8	1	1	3	0	1	1	2	3	4	1	3	0	5	1	3	0	5	1	0			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:202252532G>A	uc002uyb.4	-	12	2036	c.1590C>T	c.(1588-1590)agC>agT	p.S530S		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	530				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGGCAAGGCTCTCTGTCG	0.512													A	202252532	G	A	202252532	2	1	86	1	0	0	0	0	0	0	0	1	16551	1194	42	2		2	TRAK2	2	202252532	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	34492310	202252532	40946841	10	5649											
CXCR2	3579	broad.mit.edu	37	chr2	218999840	218999840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttgcccatctgggccGcctccaaggtgaatggctgg	6	9	13	13	1	1	2	0	2	1	0	2	2	2	2	5	4	1	1	5	4	2	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr2:218999840G>A	uc002vgz.2	+	3	526	c.316G>A	c.(316-318)Gcc>Acc	p.A106T	CXCR2_uc002vha.2_Missense_Mutation_p.A106T|CXCR2_uc002vhb.2_Missense_Mutation_p.A106T|CXCR2_uc021vwp.1_Missense_Mutation_p.A106T	NM_001168298	NP_001548	P25025	CXCR2_HUMAN	Homo sapiens chemokine (C-X-C motif) receptor 2 (CXCR2), transcript variant 2, mRNA.	106					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity	p.A105A(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCTGGGCCGCCTCCAAGGT	0.552													A	218999840	G	A	218999840	3	1	86	1	0	0	0	0	1	0	0	0	4124	1087	38	1	318	1	CXCR2	2	218999840	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	16747308	218999840	24199533	11	5650											
SCN10A	6336	broad.mit.edu	37	chr3	38770174	38770174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagagtggaagaagtcGtgcatgtgccagcggggcca	12	5	17	7	2	0	2	0	0	0	2	1	4	0	4	2	4	3	1	2	4	3	0			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:38770174G>A	uc003ciq.3	-	14	2499	c.2499C>T	c.(2497-2499)caC>caT	p.H833H		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	833					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GGAAGAAGTCGTGCATGTGCC	0.512													A	38770174	G	A	38770174	2	1	86	1	0	0	0	0	0	0	0	1	14005	1136	40	1		1	SCN10A	3	38770174	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08		38770174	159252256	12	5651											
CCR1	1230	broad.mit.edu	37	chr3	46245393	46245393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcaaggcaaacacggCgtggacgatggccaggtacc	10	4	14	13	4	0	0	0	0	0	0	0	2	0	1	3	5	3	3	3	5	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:46245393C>T	uc003cph.1	-	1	483	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	CCR3_uc003cpg.2_Intron|CCR1_uc021wwy.1_Missense_Mutation_p.A138T	NM_001295	NP_001286	P32246	CCR1_HUMAN	Homo sapiens chemokine (C-C motif) receptor 1 (CCR1), mRNA.	138					cell adhesion|cell-cell signaling|cytokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	integral to plasma membrane	C-C chemokine receptor activity			autonomic_ganglia(1)|large_intestine(6)|lung(6)|pancreas(1)|skin(3)	17				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		GCAAACACGGCGTGGACGATG	0.512													T	46245393	C	T	46245393	3	4	86	1	0	0	0	0	1	0	0	0	2969	768	27	1	659	1	CCR1	3	46245393	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	7475219	46245393	151777037	13	5652											
PRR23B	389151	broad.mit.edu	37	chr3	138739096	138739096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcagaattccagctcgacGacgacgtcctccctgacagc	9	6	10	16	5	0	2	0	1	0	1	4	5	3	2	3	0	2	2	3	0	1	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr3:138739096G>A	uc003esy.1	-	0	673	c.408C>T	c.(406-408)gtC>gtT	p.V136V		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	136										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCAGCTCGACGACGACGTCCT	0.652													A	138739096	G	A	138739096	2	1	86	1	0	0	0	0	0	0	0	1	12681	1045	37	1		1	PRR23B	3	138739096	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	92493703	138739096	59283334	14	5653											
MFSD7	84179	broad.mit.edu	37	chr4	680063	680063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgcgtagcacactcccgGcaaagttcagccacgcaccc	10	5	8	18	3	1	0	1	0	0	0	2	0	2	0	4	1	3	5	4	1	2	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:680063G>A	uc003gay.3	-	2	380	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.A108V|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	108					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						CACACTCCCGGCAAAGTTCAG	0.657													A	680063	G	A	680063	3	1	86	1	0	0	0	0	1	0	0	0	9612	1203	42	2	1388	2	MFSD7	4	680063	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		680063	190474213	15	5654											
LPHN3	23284	broad.mit.edu	37	chr4	62598628	62598628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactgataccctgactgAgtattcatccaaggatgact	13	10	8	10	0	1	5	1	4	0	1	2	6	2	6	2	1	2	1	2	1	4	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr4:62598628A>G	uc010ihh.3	+	4	724	c.551A>G	c.(550-552)gAg>gGg	p.E184G	LPHN3_uc003hcq.4_Missense_Mutation_p.E184G|LPHN3_uc010ihg.1_Missense_Mutation_p.E252G|LPHN3_uc003hcs.1_Missense_Mutation_p.E13G	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	184	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						ACCCTGACTGAGTATTCATCC	0.493													G	62598628	A	G	62598628	3	3	86	1	0	0	0	0	1	0	0	0	8987	304	11	3	569	3	LPHN3	4	62598628	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	61918565	62598628	128555648	16	5655											
CARD6	84674	broad.mit.edu	37	chr5	40852866	40852866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacacttctcagccctGcccagttgaaattacacaaa	14	9	4	14	0	2	1	2	1	1	0	3	1	2	1	2	0	4	1	2	0	4	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:40852866G>A	uc003jmg.3	+	2	1507	c.1432G>A	c.(1432-1434)Gcc>Acc	p.A478T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	478					apoptosis|regulation of apoptosis	intracellular		p.P477H(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						TCTCAGCCCTGCCCAGTTGAA	0.433													A	40852866	G	A	40852866	3	1	86	1	0	0	0	0	1	0	0	0	2676	1319	46	2	1442	2	CARD6	5	40852866	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		40852866	140062394	17	5656											
ATOX1	475	broad.mit.edu	37	chr5	151125916	151125916	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggtaggaaacagtcttTcctgttttcttcagggttgc	8	14	10	9	0	3	0	1	0	2	0	4	1	4	1	2	3	2	3	2	3	3	6			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr5:151125916T>C	uc003luk.3	-	2	275	c.177A>G	c.(175-177)ggA>ggG	p.G59G		NM_004045	NP_004036	O00244	ATOX1_HUMAN	Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.	59	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AAACAGTCTTTCCTGTTTTCT	0.542													C	151125916	T	C	151125916	2	2	86	1	0	0	0	0	0	0	0	1	1120	1770	62	3		3	ATOX1	5	151125916	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08	110273050	151125916	29789344	18	5657											
MBOAT1	154141	broad.mit.edu	37	chr6	20118736	20118736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattcttatccactccgcTgaacccaaagccagctgcgt	9	9	6	17	2	1	1	0	1	1	0	3	1	3	1	5	0	4	2	5	0	3	2	rs150163538		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:20118736T>C	uc003ncx.1	-	8	1148	c.943A>G	c.(943-945)Agc>Ggc	p.S315G	MBOAT1_uc011dji.1_Missense_Mutation_p.S166G	NM_001080480	NP_001073949	Q6ZNC8	MBOA1_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 1 (MBOAT1), mRNA.	315					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(5)	20	all_cancers(95;0.244)|Breast(50;0.0379)|Ovarian(93;0.0473)|all_epithelial(95;0.109)		OV - Ovarian serous cystadenocarcinoma(7;0.00392)|all cancers(50;0.0117)|Epithelial(50;0.0454)			TCCACTCCGCTGAACCCAAAG	0.393													C	20118736	T	C	20118736	3	2	86	1	0	0	0	0	1	0	0	0	9431	1580	55	3	564	3	MBOAT1	6	20118736	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08		20118736	150996331	19	5658											
GRM4	2914	broad.mit.edu	37	chr6	34008523	34008523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcccaattcgctcacGgtctgcaatgaaacaccagg	11	8	8	14	2	2	1	1	1	1	0	4	1	3	1	3	2	3	2	3	2	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:34008523G>A	uc003oir.4	-	5	1534	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	GRM4_uc011dsn.2_Missense_Mutation_p.R344C|GRM4_uc010jvh.3_Missense_Mutation_p.R391C|GRM4_uc010jvi.3_Missense_Mutation_p.R83C|GRM4_uc003oio.3_Missense_Mutation_p.R83C|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Missense_Mutation_p.R251C|GRM4_uc003oiq.3_Missense_Mutation_p.R258C|GRM4_uc011dsm.2_Missense_Mutation_p.R222C	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	391					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	ATTCGCTCACGGTCTGCAATG	0.597													A	34008523	G	A	34008523	3	1	86	1	0	0	0	0	1	0	0	0	6854	1116	39	1	1587	1	GRM4	6	34008523	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	13889787	34008523	137106544	20	5659											
VEGFA	7422	broad.mit.edu	37	chr6	43752359	43752359	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagatctctcaccaggaaAgactgatacagaacgatcga	16	6	8	11	2	2	4	1	1	1	3	4	7	2	5	2	1	2	0	2	1	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr6:43752359A>T	uc003owh.3	+	7					VEGFA_uc003owd.3_3'UTR|VEGFA_uc010jyx.3_3'UTR|VEGFA_uc003owf.3_3'UTR|VEGFA_uc003owg.3_3'UTR|VEGFA_uc003owe.3_3'UTR|VEGFA_uc021yzu.1_3'UTR|VEGFA_uc003owj.3_3'UTR|VEGFA_uc003owi.3_Missense_Mutation_p.K370N|VEGFA_uc003owk.3_Non-coding_Transcript	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.						basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	TCACCAGGAAAGACTGATACA	0.527													T	43752359	A	T	43752359	3	4	86	1	0	0	0	0	1	0	0	0	17252	69	3	5	1289	5	VEGFA	6	43752359	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	9743836	43752359	127362708	21	5660											
ZNF92	168374	broad.mit.edu	37	chr7	64864755	64864755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagcctttaacaaatcCtcaaattatactaaagagaa	18	9	6	8	0	1	2	1	0	0	2	2	3	2	2	2	1	3	1	2	1	8	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:64864755C>A	uc003ttz.3	+	3	1871	c.1728C>A	c.(1726-1728)tcC>tcA	p.S576S	ZNF92_uc003tua.3_Silent_p.S507S|ZNF92_uc010kzu.3_Silent_p.S544S|ZNF92_uc003tub.3_Silent_p.S500S|ZNF92_uc022afd.1_Non-coding_Transcript	NM_152626	NP_009070	Q03936	ZNF92_HUMAN	Homo sapiens zinc finger protein 92 (ZNF92), transcript variant 2, mRNA.	576						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(3)|lung(4)|pancreas(1)|skin(1)|stomach(1)	13		Lung NSC(55;0.159)				TTAACAAATCCTCAAATTATA	0.348													A	64864755	C	A	64864755	2	1	86	1	0	0	0	0	0	0	0	1	18300	668	24	4		4	ZNF92	7	64864755	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08		64864755	94273908	22	5661											
MTERF	7978	broad.mit.edu	37	chr7	91503564	91503564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatccaactgagtagaggaActttatattattctctaagt	14	14	6	7	0	1	2	0	1	1	1	3	3	2	3	1	1	2	1	1	1	8	7			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:91503564A>G	uc003ulc.1	-	2	620	c.544T>C	c.(544-546)Ttc>Ctc	p.F182L	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.F162L|MTERF_uc010leu.1_Missense_Mutation_p.F162L	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	182					DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			GAGTAGAGGAACTTTATATTA	0.378													G	91503564	A	G	91503564	3	3	86	1	0	0	0	0	1	0	0	0	9994	43	2	3	659	3	MTERF	7	91503564	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08	26638809	91503564	67635099	23	5662											
CCDC132	55610	broad.mit.edu	37	chr7	92883220	92883220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattagaggcgtatagagaCaaattgaaacaacagcaagc	19	6	10	6	1	0	3	0	1	0	2	0	5	0	3	0	1	4	2	0	1	8	4			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:92883220C>G	uc003umo.3	+	3	401	c.273C>G	c.(271-273)gaC>gaG	p.D91E	CCDC132_uc003ump.3_Missense_Mutation_p.D61E|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Intron|CCDC132_uc003umn.3_Missense_Mutation_p.D91E	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	91										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CGTATAGAGACAAATTGAAAC	0.323													G	92883220	C	G	92883220	3	3	86	1	0	0	0	0	1	0	0	0	2793	477	17	4	287	4	CCDC132	7	92883220	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	1379656	92883220	66255443	24	5663											
WNT2	7472	broad.mit.edu	37	chr7	116960744	116960744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgccctggctaatggcacGcatcacatctggatgtcggt	8	9	11	13	3	2	0	1	0	1	0	3	1	2	1	1	4	0	3	1	4	1	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:116960744G>A	uc003viz.3	-	1	487	c.187C>T	c.(187-189)Cgt>Tgt	p.R63C	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	63					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTAATGGCACGCATCACATCT	0.607													A	116960744	G	A	116960744	3	1	86	1	0	0	0	0	1	0	0	0	17488	1087	38	1	911	1	WNT2	7	116960744	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	24077524	116960744	42177919	25	5664											
UBN2	254048	broad.mit.edu	37	chr7	138978177	138978177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacaaccacctcgggatctaCctcagccgctttccaccata	10	8	6	17	2	2	0	1	0	1	0	4	2	3	1	6	1	3	1	6	1	3	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:138978177C>T	uc011kqr.2	+	15	3869	c.3869C>T	c.(3868-3870)aCc>aTc	p.T1290I		NM_173569	NP_775840	Q6ZU65	UBN2_HUMAN	Homo sapiens ubinuclein 2 (UBN2), mRNA.	1290										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TCGGGATCTACCTCAGCCGCT	0.502													T	138978177	C	T	138978177	3	4	86	1	0	0	0	0	1	0	0	0	16995	507	18	2	3931	2	UBN2	7	138978177	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	22017433	138978177	20160486	26	5665											
KEL	3792	broad.mit.edu	37	chr7	142651272	142651272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccccagttccaggcaccTtgagctggtcgatagtgacc	7	8	12	14	1	0	2	0	2	0	0	2	3	1	2	5	3	1	3	5	3	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr7:142651272T>C	uc003wcb.3	-	8	1134	c.924_splice	c.e8+1	p.K308_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	308					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCCAGGCACCTTGAGCTGGTC	0.547													C	142651272	T	C	142651272	3	2	86	1	0	0	0	0	1	0	0	0	8200	1623	56	3	1323	3	KEL	7	142651272	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08	3673095	142651272	16487391	27	5666											
XKR4	114786	broad.mit.edu	37	chr8	56436491	56436491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtccatctccaacaaccGcagtgttgtcagcgaccgcg	9	7	10	15	5	2	0	1	0	1	0	4	1	3	0	4	1	3	2	4	1	2	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:56436491G>A	uc003xsf.3	+	2	1690	c.1658G>A	c.(1657-1659)cGc>cAc	p.R553H		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	553						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TCCAACAACCGCAGTGTTGTC	0.592													A	56436491	G	A	56436491	3	1	86	1	0	0	0	0	1	0	0	0	17535	1087	38	1	1668	1	XKR4	8	56436491	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		56436491	89927531	28	5667											
JPH1	56704	broad.mit.edu	37	chr8	75171693	75171693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcctggcgagcggccagCgcggcctggtcggcggcatc	4	5	16	16	6	0	0	0	0	0	0	3	1	1	0	3	6	2	1	3	6	0	0			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:75171693C>T	uc003yae.3	-	2	1225	c.1185G>A	c.(1183-1185)gcG>gcA	p.A395A	JPH1_uc003yaf.3_Silent_p.A395A|JPH1_uc003yag.1_Silent_p.A259A	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(1)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GAGCGGCCAGCGCGGCCTGGT	0.592													T	75171693	C	T	75171693	2	4	86	1	0	0	0	0	0	0	0	1	8018	755	27	1		1	JPH1	8	75171693	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	18735202	75171693	71192329	29	5668											
GEM	2669	broad.mit.edu	37	chr8	95262754	95262754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagctccttcacgttgtgCtggacagctgcagaggtctc	8	10	11	12	1	2	1	1	0	1	1	4	2	3	2	1	2	5	5	1	2	1	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr8:95262754C>T	uc003ygi.3	-	4	799	c.675G>A	c.(673-675)caG>caA	p.Q225Q	GEM_uc003ygj.3_Silent_p.Q225Q	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	225					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCACGTTGTGCTGGACAGCTG	0.562													T	95262754	C	T	95262754	2	4	86	1	0	0	0	0	0	0	0	1	6385	796	28	2		2	GEM	8	95262754	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	20091061	95262754	51101268	30	5669											
TTC18	118491	broad.mit.edu	37	chr10	75051125	75051125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgtgcctgaagcatccGtgcctgaagctgtttggagg	7	12	13	9	1	0	2	0	2	0	0	1	3	1	3	3	2	5	3	3	2	3	3	rs141991496		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:75051125G>A	uc009xrc.3	-	19	2429	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	TTC18_uc001jty.3_Missense_Mutation_p.R770W|TTC18_uc001jtv.4_5'UTR|TTC18_uc001jtw.4_5'UTR|TTC18_uc001jtx.3_Missense_Mutation_p.R151W	NM_145170	NP_660153	Q5T0N1	TTC18_HUMAN	Homo sapiens tetratricopeptide repeat domain 18 (TTC18), mRNA.	770							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	Prostate(51;0.0119)					TGAAGCATCCGTGCCTGAAGC	0.423													A	75051125	G	A	75051125	3	1	86	1	0	0	0	0	1	0	0	0	16787	1144	40	1	1093	1	TTC18	10	75051125	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		75051125	60483622	31	5670											
MMP21	118856	broad.mit.edu	37	chr10	127462500	127462500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccacatcctgaaggccagCgccacaatgcgccgctggtc	8	6	10	17	3	0	1	0	1	0	0	3	1	2	1	5	2	2	1	5	2	2	0	rs138636566		TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr10:127462500C>T	uc001liu.3	-	1	597	c.597G>A	c.(595-597)gcG>gcA	p.A199A		NM_147191	NP_671724	Q8N119	MMP21_HUMAN	Homo sapiens matrix metallopeptidase 21 (MMP21), mRNA.	199					proteolysis	extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	16		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TGAAGGCCAGCGCCACAATGC	0.701													T	127462500	C	T	127462500	2	4	86	1	0	0	0	0	0	0	0	1	9735	755	27	1		1	MMP21	10	127462500	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	52411375	127462500	8072247	32	5671											
CNGA4	1262	broad.mit.edu	37	chr11	6261559	6261559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctttacatttttgtcGtcatccattggaacagctgc	8	16	8	9	1	1	1	1	1	0	0	3	2	2	2	1	1	5	2	1	1	2	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:6261559G>A	uc001mco.3	+	3	650	c.535G>A	c.(535-537)Gtc>Atc	p.V179I	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.V139I	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	179					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATTTTTGTCGTCATCCATTG	0.597													A	6261559	G	A	6261559	3	1	86	1	0	0	0	0	1	0	0	0	3630	1145	40	1	549	1	CNGA4	11	6261559	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		6261559	128744957	33	5672											
RAG2	5897	broad.mit.edu	37	chr11	36614338	36614338	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtgtgcgttctgccaGatccatgcactgagcatgga	9	10	13	9	1	1	3	0	2	1	1	2	5	2	4	2	1	4	3	2	1	0	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:36614338G>T	uc021qge.1	-	0	1381	c.1381C>A	c.(1381-1383)Ctg>Atg	p.L461M	RAG1_uc001mwt.3_Intron|RAG2_uc021qgc.1_Missense_Mutation_p.L461M|RAG2_uc021qgd.1_Missense_Mutation_p.L461M|RAG2_uc001mwv.4_Missense_Mutation_p.L461M|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	461					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				CGTTCTGCCAGATCCATGCAC	0.498									Familial Hemophagocytic Lymphohistiocytosis				T	36614338	G	T	36614338	3	4	86	1	0	0	0	0	1	0	0	0	13093	933	33	4	206	4	RAG2	11	36614338	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	30352779	36614338	98392178	34	5673											
ACCS	84680	broad.mit.edu	37	chr11	44105037	44105037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgctttttggacaacaagGtgctgctgtcctttggcaag	7	12	12	10	1	0	0	0	0	0	0	1	1	1	1	2	3	3	4	2	3	3	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:44105037G>A	uc009yks.1	+	13	1462	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M	EXT2_uc010rfo.2_Intron|ACCS_uc001mxx.2_Missense_Mutation_p.V440M	NM_001127219	NP_115981	Q96QU6	1A1L1_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional) (ACCS), transcript variant 2, mRNA.	440							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						GGACAACAAGGTGCTGCTGTC	0.572													A	44105037	G	A	44105037	3	1	86	1	0	0	0	0	1	0	0	0	133	1261	44	2	1368	2	ACCS	11	44105037	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	7490699	44105037	90901479	35	5674											
OR5L2	26338	broad.mit.edu	37	chr11	55594870	55594870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggctccacacccccgTgtactttttcctcagccact	5	12	5	19	2	2	0	1	0	1	0	5	0	4	0	5	1	2	2	5	1	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:55594870T>A	uc001nhy.1	+	0	176	c.176T>A	c.(175-177)gTg>gAg	p.V59E		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	59			V -> M (in dbSNP:rs56711116).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V59M(1)|p.P58>?(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CACACCCCCGTGTACTTTTTC	0.468										HNSCC(27;0.073)			A	55594870	T	A	55594870	3	1	86	1	0	0	0	0	1	0	0	0	11247	1696	59	5	178	5	OR5L2	11	55594870	Missense_Mutation	SNP	T	TCGA-06-5408-01A-01D-1696-08	11489833	55594870	79411646	36	5675											
SLC22A9	114571	broad.mit.edu	37	chr11	63174115	63174115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaaatacatgaaccgtcGagcaagccagatgcttctca	14	8	8	11	2	1	3	1	2	1	1	3	4	1	3	2	0	5	2	2	0	4	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr11:63174115G>A	uc001nww.3	+	6	1488	c.1220G>A	c.(1219-1221)cGa>cAa	p.R407Q	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	407					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						ATGAACCGTCGAGCAAGCCAG	0.483													A	63174115	G	A	63174115	3	1	86	1	0	0	0	0	1	0	0	0	14555	1058	37	1	1246	1	SLC22A9	11	63174115	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	7579245	63174115	71832401	37	5676											
STYK1	55359	broad.mit.edu	37	chr12	10772903	10772903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctctctaggtgaggggCggtcagcctcacgccagcgc	6	6	15	14	3	3	1	2	1	1	0	4	1	3	1	2	4	3	2	2	4	1	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:10772903C>T	uc001qys.2	-	10	1630	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H		NM_018423	NP_060893	Q6J9G0	STYK1_HUMAN	Homo sapiens serine/threonine/tyrosine kinase 1 (STYK1), mRNA.	370	Protein kinase.					integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AGGTGAGGGGCGGTCAGCCTC	0.527										HNSCC(73;0.22)			T	10772903	C	T	10772903	3	4	86	1	0	0	0	0	1	0	0	0	15455	768	27	1	163	1	STYK1	12	10772903	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		10772903	123078992	38	5677											
TMEM5	10329	broad.mit.edu	37	chr12	64202634	64202634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggcaactgtgggaataCatctgtgcaccacggtgctc	9	9	12	11	1	1	0	0	0	1	0	2	1	1	1	1	3	5	4	1	3	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:64202634C>T	uc001srq.1	+	5	1198	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I	TMEM5_uc001srs.1_Missense_Mutation_p.T105I	NM_014254	NP_055069	Q9Y2B1	TMEM5_HUMAN	Homo sapiens transmembrane protein 5 (TMEM5), mRNA.	365						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		TGTGGGAATACATCTGTGCAC	0.478													T	64202634	C	T	64202634	3	4	86	1	0	0	0	0	1	0	0	0	16274	478	17	2	1116	2	TMEM5	12	64202634	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	53429731	64202634	69649261	39	5678											
OAS2	4939	broad.mit.edu	37	chr12	113447011	113447011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctccctgcttcaaggatgGgactggaaacccaataccac	11	8	8	14	0	2	0	1	0	1	0	3	3	2	3	3	3	3	1	3	3	4	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr12:113447011G>T	uc001tuj.3	+	9	2155	c.2015G>T	c.(2014-2016)gGg>gTg	p.G672V	OAS2_uc001tui.1_Missense_Mutation_p.G672V	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	672	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.D671N(1)		NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTCAAGGATGGGACTGGAAAC	0.502													T	113447011	G	T	113447011	3	4	86	1	0	0	0	0	1	0	0	0	10876	1232	43	4	2124	4	OAS2	12	113447011	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	49244377	113447011	20404884	40	5679											
FREM2	341640	broad.mit.edu	37	chr13	39422735	39422735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaatttgaactggtgcttCgcatgcctatgaacgcagcc	11	10	10	10	2	0	3	0	2	0	1	1	3	0	3	2	1	5	3	2	1	4	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:39422735C>T	uc001uwv.3	+	7	6616	c.6307C>T	c.(6307-6309)Cgc>Tgc	p.R2103C	FREM2_uc001uww.3_Missense_Mutation_p.R189C	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2103	Calx-beta 3.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ACTGGTGCTTCGCATGCCTAT	0.463													T	39422735	C	T	39422735	3	4	86	1	0	0	0	0	1	0	0	0	6097	884	31	1	6337	1	FREM2	13	39422735	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		39422735	75747143	41	5680											
MED4	29079	broad.mit.edu	37	chr13	48669208	48669208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcaccactcgaagacgCagccattttccccagagtcc	9	9	6	17	2	1	2	1	0	1	2	5	3	3	2	5	0	1	1	5	0	1	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:48669208C>T	uc001vby.1	-	0	33	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	MED4_uc010tgf.1_5'UTR	NM_014166	NP_054885	Q9NPJ6	MED4_HUMAN	Homo sapiens mediator complex subunit 4 (MED4), mRNA.	3					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CTCGAAGACGCAGCCATTTTC	0.662											OREG0022406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48669208	C	T	48669208	3	4	86	1	0	0	0	0	1	0	0	0	9525	710	25	2	833	2	MED4	13	48669208	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	9246473	48669208	66500670	42	5681											
ABCC4	10257	broad.mit.edu	37	chr13	95715015	95715015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccaatttcagttgtcaaGatcttatcaatccaaatttt	13	16	4	8	0	4	1	3	0	1	1	6	1	6	1	2	0	0	1	2	0	5	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr13:95715015G>C	uc001vmd.4	-	25	3428	c.3309C>G	c.(3307-3309)atC>atG	p.I1103M	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.I1056M	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1103	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CAGTTGTCAAGATCTTATCAA	0.423													C	95715015	G	C	95715015	3	2	86	1	0	0	0	0	1	0	0	0	55	932	33	4	692	4	ABCC4	13	95715015	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	47045807	95715015	19454863	43	5682											
RTN1	6252	broad.mit.edu	37	chr14	60212584	60212584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagaaggttctatttccGtcagtgtgattttgacaggg	10	13	11	7	1	2	3	1	2	1	1	3	3	3	3	1	2	1	1	1	2	3	5			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:60212584G>A	uc001xen.1	-	1	1066	c.857C>T	c.(856-858)aCg>aTg	p.T286M		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	286					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TTCTATTTCCGTCAGTGTGAT	0.458													A	60212584	G	A	60212584	3	1	86	1	0	0	0	0	1	0	0	0	13816	1145	40	1	1570	1	RTN1	14	60212584	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		60212584	47136956	44	5683											
AHNAK2	113146	broad.mit.edu	37	chr14	105417146	105417146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctggacctccaggtcagCagaagggggctgtatgctca	9	7	14	11	0	2	1	2	0	0	1	3	2	3	2	3	4	3	4	3	4	2	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr14:105417146C>T	uc010axc.1	-	6	4762	c.4642G>A	c.(4642-4644)Gct>Act	p.A1548T	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.A1448T	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1548						nucleus		p.A1548S(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCAGGTCAGCAGAAGGGGGC	0.642													T	105417146	C	T	105417146	3	4	86	1	0	0	0	0	1	0	0	0	415	710	25	2	12749	2	AHNAK2	14	105417146	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	45204562	105417146	1932394	45	5684											
ATP10A	57194	broad.mit.edu	37	chr15	25966826	25966827	+	Frame_Shift_Ins	INS	-	-	AC																															ttgcatcatgagaatattctINSacaccagacacagtgcatct																										TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:25966826_25966827insAC	uc010ayu.3	-	6	1446_1447	c.1340_1341insGT	c.(1339-1341)gtafs	p.V447fs		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	447					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GAGAATATTCTACACCAGACAC	0.46													AC	25966827	-	AC	25966826	7	5	86	1	0	1	1	0	0	0	0	0	1121	1509	53	0	3218	0	ATP10A	15	25966826	Frame_Shift_Ins	INS	-	TCGA-06-5408-01A-01D-1696-08		25966826	76564566	46	5685											
CYP11A1	1583	broad.mit.edu	37	chr15	74635350	74635350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccagcatctctgtgaCgttggccttgatgtcctcga	5	13	10	13	2	1	2	0	2	1	0	5	3	3	2	4	1	2	2	4	1	0	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr15:74635350C>T	uc002axt.2	-	4	1113	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	CYP11A1_uc002axs.2_Missense_Mutation_p.V162I|CYP11A1_uc010bjm.1_Missense_Mutation_p.V162I|CYP11A1_uc010bjn.1_Non-coding_Transcript|CYP11A1_uc010bjp.1_Intron|CYP11A1_uc010ulj.1_Missense_Mutation_p.V100I	NM_000781	NP_001093243	P05108	CP11A_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily A, polypeptide 1 (CYP11A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding	p.N319H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	ATCTCTGTGACGTTGGCCTTG	0.602													T	74635350	C	T	74635350	3	4	86	1	0	0	0	0	1	0	0	0	4177	536	19	1	627	1	CYP11A1	15	74635350	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	48668524	74635350	27896042	47	5686											
WDR90	197335	broad.mit.edu	37	chr16	703407	703407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatcgtcgtcctgctcGtggacacgggggagcagcgc	5	7	16	13	6	1	0	1	0	0	0	5	2	2	2	1	4	3	2	1	4	0	0			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:703407G>A	uc002cii.1	+	10	1243	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	WDR90_uc002cig.1_Missense_Mutation_p.V397M|WDR90_uc002cih.1_Missense_Mutation_p.V398M|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	397										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGTCCTGCTCGTGGACACGGG	0.701													A	703407	G	A	703407	3	1	86	1	0	0	0	0	1	0	0	0	17439	1145	40	1	1231	1	WDR90	16	703407	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		703407	89651346	48	5687											
TMEM186	25880	broad.mit.edu	37	chr16	8890029	8890029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttcagatgggccaccCgcagcatggtgccagactca	11	6	12	12	1	2	3	2	0	0	3	2	3	2	3	3	2	2	3	3	2	1	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:8890029C>T	uc002cze.3	-	1	456	c.422G>A	c.(421-423)cGg>cAg	p.R141Q	PMM2_uc002czf.4_5'Flank|PMM2_uc010uyf.2_5'Flank|PMM2_uc010uyg.2_5'Flank|PMM2_uc010uyh.2_5'Flank|PMM2_uc010buj.3_5'Flank|PMM2_uc010uyi.2_5'Flank|PMM2_uc010uye.1_5'Flank	NM_015421	NP_056236	Q96B77	TM186_HUMAN	Homo sapiens transmembrane protein 186 (TMEM186), mRNA.	141						integral to membrane|mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9						ATGGGCCACCCGCAGCATGGT	0.557													T	8890029	C	T	8890029	3	4	86	1	0	0	0	0	1	0	0	0	16208	652	23	1	223	1	TMEM186	16	8890029	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08	8186622	8890029	81464724	49	5688											
MMP2	4313	broad.mit.edu	37	chr16	55525753	55525753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccacgagtttggccaCgccatggggctggagcactc	7	6	14	14	2	0	0	0	0	0	0	1	2	0	1	3	4	2	4	3	4	0	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr16:55525753C>T	uc002ehz.4	+	7	1532	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	MMP2_uc010vhd.2_Silent_p.H331H|MMP2_uc010ccc.3_Silent_p.H357H	NM_004530	NP_004521	P08253	MMP2_HUMAN	Homo sapiens matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase) (MMP2), transcript variant 1, mRNA.	407	Collagenase-like 2.				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Marimastat(DB00786)|Sulindac(DB00605)	AGTTTGGCCACGCCATGGGGC	0.577													T	55525753	C	T	55525753	2	4	86	1	0	0	0	0	0	0	0	1	9733	535	19	1		1	MMP2	16	55525753	Silent	SNP	C	TCGA-06-5408-01A-01D-1696-08	46635724	55525753	34829000	50	5689											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	86	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-06-5408-01A-01D-1696-08		7577120	73618090	51	5690											
GAS7	8522	broad.mit.edu	37	chr17	9822945	9822945	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatccctgcccgcttaccaAtgtggtggtcaccatctctt	7	12	7	15	1	2	0	1	0	1	0	4	0	3	0	4	2	2	1	4	2	2	2			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:9822945A>G	uc002gmg.1	-	11	1377	c.1216T>C	c.(1216-1218)Ttg>Ctg	p.L406L	GAS7_uc010vvc.1_Silent_p.L220L|GAS7_uc002gmh.1_Silent_p.L266L|GAS7_uc010vvd.1_Silent_p.L358L|GAS7_uc002gmi.2_Silent_p.L342L|GAS7_uc002gmj.1_Silent_p.L346L|GAS7_uc010coh.1_Silent_p.L346L	NM_201433	NP_001124303	O60861	GAS7_HUMAN	Homo sapiens growth arrest-specific 7 (GAS7), transcript variant c, mRNA.	406					cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						CCGCTTACCAATGTGGTGGTC	0.567			T	MLL	AML*								G	9822945	A	G	9822945	2	3	86	1	0	0	0	0	0	0	0	1	6304	98	4	3		3	GAS7	17	9822945	Silent	SNP	A	TCGA-06-5408-01A-01D-1696-08	2245825	9822945	71372265	52	5691											
NF1	4763	broad.mit.edu	37	chr17	29587504	29587504	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactctggaacaatcaggaGaaaattgggcagtatctttc	13	11	9	8	0	3	1	1	0	2	1	4	3	3	2	0	3	2	2	0	3	6	4			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:29587504G>A	uc002hgg.3	+	33	4931	c.4548G>A	c.(4546-4548)gaG>gaA	p.E1516E	NF1_uc002hgh.3_Silent_p.E1495E|NF1_uc002hgi.1_Silent_p.E528E	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1516					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAATCAGGAGAAAATTGGGC	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29587504	G	A	29587504	2	1	86	1	0	0	0	0	0	0	0	1	10432	933	33	2		2	NF1	17	29587504	Silent	SNP	G	TCGA-06-5408-01A-01D-1696-08	19764559	29587504	51607706	53	5692											
KRT9	3857	broad.mit.edu	37	chr17	39724810	39724810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactcctggacaccgtgccGgagctgggtcacctccttgg	6	8	12	15	2	1	0	1	0	0	0	3	2	3	2	5	4	3	1	5	4	1	1	rs116216460	byFrequency	TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr17:39724810G>A	uc002hxe.4	-	4	1186	c.1120C>T	c.(1120-1122)Cgg>Tgg	p.R374W	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	374	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ACACCGTGCCGGAGCTGGGTC	0.547													A	39724810	G	A	39724810	3	1	86	1	0	0	0	0	1	0	0	0	8559	1115	39	1	763	1	KRT9	17	39724810	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	10137306	39724810	41470400	54	5693											
MUC16	94025	broad.mit.edu	37	chr19	9088857	9088857	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagaagtggcagaggtTgaaacagtggttgttgctga	12	9	17	3	0	0	5	0	2	0	3	0	7	0	5	0	3	2	5	0	3	2	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:9088857T>A	uc002mkp.3	-	0	3162	c.2958A>T	c.(2956-2958)tcA>tcT	p.S986S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	986	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S986L(1)		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						TGGCAGAGGTTGAAACAGTGG	0.463													A	9088857	T	A	9088857	2	1	86	1	0	0	0	0	0	0	0	1	10049	1799	63	5		5	MUC16	19	9088857	Silent	SNP	T	TCGA-06-5408-01A-01D-1696-08		9088857	50040126	55	5694											
CYP4F12	66002	broad.mit.edu	37	chr19	15791225	15791225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggatactgctgagtggcGgtgacaagtggagccgccac	10	6	16	9	2	0	2	0	2	0	0	0	4	0	4	2	4	3	1	2	4	3	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr19:15791225G>A	uc002nbl.3	+	4	540	c.421G>A	c.(421-423)Ggt>Agt	p.G141S	CYP4F12_uc010xoo.2_Missense_Mutation_p.G141S|CYP4F12_uc010xop.2_Missense_Mutation_p.R172Q	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTGAGTGGCGGTGACAAGTG	0.552													A	15791225	G	A	15791225	3	1	86	1	0	0	0	0	1	0	0	0	4220	1116	39	1	435	1	CYP4F12	19	15791225	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	6702368	15791225	43337758	56	5695											
SLC5A4	6527	broad.mit.edu	37	chr22	32634986	32634986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttaccagtggtggtgtaaAcagcagtcatagccaagagg	13	8	12	8	0	1	1	1	0	0	1	1	1	1	1	2	3	4	2	2	3	5	3			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:32634986A>G	uc003ami.3	-	5	571	c.569T>C	c.(568-570)gTt>gCt	p.V190A		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	190					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GGTGGTGTAAACAGCAGTCAT	0.448													G	32634986	A	G	32634986	3	3	86	1	0	0	0	0	1	0	0	0	14761	43	2	3	1450	3	SLC5A4	22	32634986	Missense_Mutation	SNP	A	TCGA-06-5408-01A-01D-1696-08		32634986	18669580	57	5696											
DNAJB7	150353	broad.mit.edu	37	chr22	41257669	41257669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcgagtcttcaaagaaGtgaaaagaaaatggatccct	17	8	9	7	1	3	3	2	1	1	2	4	5	4	4	1	1	1	0	1	1	7	1			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chr22:41257669G>T	uc003azj.3	-	0	462	c.330C>A	c.(328-330)caC>caA	p.H110Q	XPNPEP3_uc011aox.2_Intron|XPNPEP3_uc003azh.3_Intron|XPNPEP3_uc003azi.3_Intron|XPNPEP3_uc011aoy.1_5'Flank|XPNPEP3_uc003azf.2_3'UTR|XPNPEP3_uc003azg.2_Non-coding_Transcript|XPNPEP3_uc010gyh.1_5'Flank	NM_145174	NP_660157	Q7Z6W7	DNJB7_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 7 (DNAJB7), mRNA.	110					protein folding		heat shock protein binding|unfolded protein binding	p.H110Q(2)		breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTCAAAGAAGTGAAAAGAAA	0.388													T	41257669	G	T	41257669	3	4	86	1	0	0	0	0	1	0	0	0	4664	1020	36	4	603	4	DNAJB7	22	41257669	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08	8622683	41257669	10046897	58	5697											
MST4	51765	broad.mit.edu	37	chrX	131205232	131205232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgatgaatctgattccGagggctctgattcgtatgta	9	14	12	6	2	2	5	0	5	2	0	4	6	3	5	1	1	0	3	1	1	3	4			TCGA-06-5408-01A-01D-1696-08	TCGA-06-5408-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed8ca267-0153-475b-9154-361af62ff767	c32ea847-5a65-471c-a41b-6eecc1dc8242	g.chrX:131205232G>A	uc004ewk.1	+	7	1220	c.919G>A	c.(919-921)Gag>Aag	p.E307K	MST4_uc004ewl.1_Missense_Mutation_p.E230K|MST4_uc011mux.1_Missense_Mutation_p.E329K|MST4_uc010nrj.1_Missense_Mutation_p.E307K|MST4_uc004ewm.1_Missense_Mutation_p.E245K	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	307					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					ATCTGATTCCGAGGGCTCTGA	0.348													A	131205232	G	A	131205232	3	1	86	1	0	0	0	0	1	0	0	0	9968	1059	37	1	945	1	MST4	23	131205232	Missense_Mutation	SNP	G	TCGA-06-5408-01A-01D-1696-08		131205232	24065328	59	5698											
C1orf112	55732	broad.mit.edu	37	chr1	169772375	169772375	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgccacacaggaatcCatcattttggaaaatattca	14	12	6	9	0	3	0	2	0	1	0	4	2	4	2	2	2	1	0	2	2	4	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr1:169772375C>T	uc001ggq.3	+	4	937	c.237C>T	c.(235-237)tcC>tcT	p.S79S	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggo.3_Silent_p.S79S|C1orf112_uc001ggp.3_Silent_p.S79S|C1orf112_uc009wvt.3_5'UTR|C1orf112_uc010plu.1_Silent_p.S50S|C1orf112_uc009wvu.1_Silent_p.S50S|C1orf112_uc001ggr.3_5'UTR|C1orf112_uc010plv.2_Silent_p.S21S	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	79										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACAGGAATCCATCATTTTGG	0.378													T	169772375	C	T	169772375	2	4	87	1	0	0	0	0	0	0	0	1	2005	581	21	2		2	C1orf112	1	169772375	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		169772375	79478246	1	5699											
SI	6476	broad.mit.edu	37	chr3	164786544	164786544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgggtgtctgattttgaGttgtgaagagaacactgttg	9	15	14	3	0	1	4	0	3	1	1	1	6	1	4	0	1	1	2	0	1	2	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:164786544G>T	uc003fei.3	-	4	512	c.449C>A	c.(448-450)aCt>aAt	p.T150N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	150	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTGATTTTGAGTTGTGAAGAG	0.393										HNSCC(35;0.089)			T	164786544	G	T	164786544	3	4	87	1	0	0	0	0	1	0	0	0	14391	1029	36	4	5210	4	SI	3	164786544	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		164786544	33235886	2	5700											
PYDC2	152138	broad.mit.edu	37	chr3	191179074	191179074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaaggagctacagacCgtcccccagacagaggtaga	13	4	13	11	1	0	4	0	0	0	4	1	6	1	6	3	3	2	2	3	3	3	2	rs141891926	by1000genomes	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr3:191179074C>T	uc011bso.2	+	0	123	c.123C>T	c.(121-123)acC>acT	p.T41T		NM_001083308	NP_001076777	Q56P42	PYDC2_HUMAN	Homo sapiens pyrin domain containing 2 (PYDC2), mRNA.	41	DAPIN.					cytoplasm|nucleus				breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10						AGCTACAGACCGTCCCCCAGA	0.542													T	191179074	C	T	191179074	2	4	87	1	0	0	0	0	0	0	0	1	12947	639	23	1		1	PYDC2	3	191179074	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	26392530	191179074	6843356	3	5701											
KLHL5	51088	broad.mit.edu	37	chr4	39116788	39116788	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttacagatatgatccCaaaacagacatgtggactgc	13	12	7	9	0	1	3	0	1	1	2	2	4	2	4	1	1	3	0	1	1	4	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:39116788C>G	uc003gtr.2	+	9	2332	c.2049C>G	c.(2047-2049)ccC>ccG	p.P683P	KLHL5_uc003gtp.3_Silent_p.P637P|KLHL5_uc003gtq.3_Silent_p.P496P|KLHL5_uc003gts.3_Silent_p.P683P|KLHL5_uc003gtt.3_Silent_p.P622P	NM_015990	NP_057074	Q96PQ7	KLHL5_HUMAN	Homo sapiens kelch-like 5 (Drosophila) (KLHL5), transcript variant 1, mRNA.	683						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						GATATGATCCCAAAACAGACA	0.383													G	39116788	C	G	39116788	2	3	87	1	0	0	0	0	0	0	0	1	8450	581	21	4		4	KLHL5	4	39116788	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		39116788	152037488	4	5702											
GPRIN3	285513	broad.mit.edu	37	chr4	90170302	90170302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccactgcctgcacctcCgcatcttgccaagccctgct	5	9	7	20	2	1	0	0	0	1	0	3	0	2	0	6	0	5	3	6	0	1	1	rs145721148	byFrequency	TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr4:90170302C>T	uc003hsm.1	-	1	1479	c.960G>A	c.(958-960)gcG>gcA	p.A320A	GPRIN3_uc021xqb.1_Silent_p.A320A	NM_198281	NP_938022	Q6ZVF9	GRIN3_HUMAN	Homo sapiens GPRIN family member 3 (GPRIN3), mRNA.	320								p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CCTGCACCTCCGCATCTTGCC	0.537													T	90170302	C	T	90170302	2	4	87	1	0	0	0	0	0	0	0	1	6786	639	23	1		1	GPRIN3	4	90170302	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	51053514	90170302	100983974	5	5703											
HEATR7B2	133558	broad.mit.edu	37	chr5	41048449	41048449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggctgcagaagctcaGgtaaacgtgttttccatagg	11	9	12	9	1	1	2	1	0	0	2	2	2	2	2	2	3	3	5	2	3	4	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:41048449G>A	uc003jmj.4	-	15	2151	c.1661C>T	c.(1660-1662)cCt>cTt	p.P554L	HEATR7B2_uc003jmi.4_Missense_Mutation_p.P109L	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	554							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CAGAAGCTCAGGTAAACGTGT	0.468													A	41048449	G	A	41048449	3	1	87	1	0	0	0	0	1	0	0	0	7090	1000	35	2	3204	2	HEATR7B2	5	41048449	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		41048449	139866811	6	5704											
KCTD16	57528	broad.mit.edu	37	chr5	143853547	143853547	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaaaaaaaaagctgttaAagaaaagctctcaattgagg	20	7	8	6	0	1	2	1	1	1	1	2	2	1	2	0	1	3	4	0	1	9	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:143853547A>C	uc003lnm.1	+	3	1786	c.1157A>C	c.(1156-1158)aAa>aCa	p.K386T	KCTD16_uc003lnn.1_Missense_Mutation_p.K386T	NM_020768	NP_065819	Q68DU8	KCD16_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 16 (KCTD16), mRNA.	386						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			AAAGCTGTTAAAGAAAAGCTC	0.443													C	143853547	A	C	143853547	3	2	87	1	0	0	0	0	1	0	0	0	8161	14	1	5	1163	5	KCTD16	5	143853547	Missense_Mutation	SNP	A	TCGA-06-5410-01A-01D-1696-08	102805098	143853547	37061713	7	5705											
UNC5A	90249	broad.mit.edu	37	chr5	176301527	176301527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaacatgacctatgggacCttcaacttcctcgggggccg	9	8	11	13	2	1	1	1	1	0	0	3	2	2	2	4	3	3	1	4	3	3	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr5:176301527C>T	uc003mey.3	+	7	1530	c.1338C>T	c.(1336-1338)acC>acT	p.T446T	UNC5A_uc010jkg.1_Silent_p.T406T	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	446	ZU5.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTATGGGACCTTCAACTTCC	0.627													T	176301527	C	T	176301527	2	4	87	1	0	0	0	0	0	0	0	1	17093	668	24	2		2	UNC5A	5	176301527	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	32447980	176301527	4613733	8	5706											
GRM3	2913	broad.mit.edu	37	chr7	86469103	86469103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgtacgccttcaaaaCgcggaagtgcccagaaaatt	13	8	9	11	3	1	1	1	0	0	1	1	2	1	2	2	1	3	1	2	1	6	3	rs141671463		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:86469103C>T	uc003uid.3	+	3	3372	c.2273C>T	c.(2272-2274)aCg>aTg	p.T758M	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.T630M|GRM3_uc010leh.3_Missense_Mutation_p.T350M	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	758					synaptic transmission	integral to plasma membrane		p.T758M(2)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCCTTCAAAACGCGGAAGTGC	0.428													T	86469103	C	T	86469103	3	4	87	1	0	0	0	0	1	0	0	0	6853	536	19	1	2283	1	GRM3	7	86469103	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08		86469103	72669560	9	5707											
CYP3A7	1577	broad.mit.edu	37	chr7	99262902	99262902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttcactccaaatgatgtgCcagtaatcacatccatgctg	11	12	7	11	0	2	1	2	1	0	0	4	1	4	1	3	0	2	3	3	0	2	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:99262902C>G	uc003urq.3	-	6	659	c.557G>C	c.(556-558)gGc>gCc	p.G186A	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G73A|CYP3A7_uc011kiy.2_Missense_Mutation_p.G176A|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	186					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					AAATGATGTGCCAGTAATCAC	0.418													G	99262902	C	G	99262902	3	3	87	1	0	0	0	0	1	0	0	0	4214	739	26	4		4	CYP3A7	7	99262902	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	12793799	99262902	59875761	10	5708											
PIP	5304	broad.mit.edu	37	chr7	142836647	142836647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgtcgttgatgttattcGggaattaggcatctgccctg	7	13	12	9	3	1	1	0	1	1	0	3	2	1	2	2	2	2	3	2	2	3	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr7:142836647G>A	uc003wcf.1	+	3	389	c.353G>A	c.(352-354)cGg>cAg	p.R118Q		NM_002652	NP_002643	P12273	PIP_HUMAN	Homo sapiens prolactin-induced protein (PIP), mRNA.	118						extracellular region	actin binding	p.R118L(2)|p.R118R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	18	Melanoma(164;0.059)	Ovarian(593;2.82e-05)|Breast(660;0.012)		BRCA - Breast invasive adenocarcinoma(188;0.0026)|LUSC - Lung squamous cell carcinoma(290;0.0733)|Lung(243;0.08)		GATGTTATTCGGGAATTAGGC	0.453													A	142836647	G	A	142836647	3	1	87	1	0	0	0	0	1	0	0	0	12012	1116	39	1	367	1	PIP	7	142836647	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	43573745	142836647	16302016	11	5709											
DMRT3	58524	broad.mit.edu	37	chr9	990484	990484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcagagcgaacttccGcagaacctgagagtctagcg	11	5	14	11	4	1	3	0	1	1	3	2	6	2	4	2	1	5	2	2	1	3	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr9:990484G>A	uc003zgw.1	+	1	936	c.898G>A	c.(898-900)Gca>Aca	p.A300T		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	300					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GCGAACTTCCGCAGAACCTGA	0.582													A	990484	G	A	990484	3	1	87	1	0	0	0	0	1	0	0	0	4626	1087	38	1	904	1	DMRT3	9	990484	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		990484	140222947	12	5710											
DLG5	9231	broad.mit.edu	37	chr10	79566617	79566617	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggggtaaggtgtcatcCacgtagaggatgtcgtcctt	7	11	13	10	2	1	1	1	0	0	1	4	2	3	2	3	4	0	2	3	4	2	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr10:79566617C>A	uc001jzk.3	-	25	4936	c.4866G>T	c.(4864-4866)gtG>gtT	p.V1622V	DLG5_uc001jzi.3_Silent_p.V377V|DLG5_uc001jzj.3_Silent_p.V1037V|DLG5_uc009xru.1_Non-coding_Transcript	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1622	SH3.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			AGGTGTCATCCACGTAGAGGA	0.572													A	79566617	C	A	79566617	2	1	87	1	0	0	0	0	0	0	0	1	4597	581	21	4		4	DLG5	10	79566617	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		79566617	55968130	13	5711											
OR8H2	390151	broad.mit.edu	37	chr11	55873242	55873242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagctttctctacttgcGtctctcatctcttgggagtc	7	15	8	11	1	4	1	1	0	3	1	8	2	4	2	0	1	3	1	0	1	2	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:55873242G>A	uc010riy.2	+	0	724	c.724G>A	c.(724-726)Gtc>Atc	p.V242I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V242I(2)|p.C241*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CTCTACTTGCGTCTCTCATCT	0.383										HNSCC(53;0.14)			A	55873242	G	A	55873242	3	1	87	1	0	0	0	0	1	0	0	0	11314	1145	40	1	726	1	OR8H2	11	55873242	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		55873242	79133274	14	5712											
GLYATL2	219970	broad.mit.edu	37	chr11	58602091	58602091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatgttgccttggtgtctGtatttggggacagtataacc	9	14	11	7	0	1	0	0	0	1	0	1	1	1	1	2	3	3	3	2	3	4	6			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:58602091G>A	uc001nnd.4	-	5	827	c.696C>T	c.(694-696)taC>taT	p.Y232Y	GLYATL2_uc009ymq.3_Silent_p.Y232Y	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	232						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	CTTGGTGTCTGTATTTGGGGA	0.413													A	58602091	G	A	58602091	2	1	87	1	0	0	0	0	0	0	0	1	6537	1372	48	2		2	GLYATL2	11	58602091	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	2728849	58602091	76404425	15	5713											
CTTN	2017	broad.mit.edu	37	chr11	70279266	70279266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgagtgggacggagccGgagcccgtgtacagcatgga	8	6	17	10	3	0	1	0	1	0	0	0	5	0	5	3	4	4	2	3	4	1	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:70279266G>A	uc001opv.4	+	15	1532	c.1326G>A	c.(1324-1326)ccG>ccA	p.P442P	CTTN_uc001opu.3_Silent_p.P405P|CTTN_uc001opw.4_Silent_p.P405P|CTTN_uc010rqm.2_Silent_p.P126P|CTTN_uc001opx.3_Silent_p.P126P	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	442						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGACGGAGCCGGAGCCCGTGT	0.652													A	70279266	G	A	70279266	2	1	87	1	0	0	0	0	0	0	0	1	4077	1103	39	1		1	CTTN	11	70279266	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	11677175	70279266	64727250	16	5714											
DYNC2H1	79659	broad.mit.edu	37	chr11	103014114	103014114	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaggggaaagaagtagaaCgacttccaaggtattggagg	16	7	14	4	1	0	2	0	0	0	2	1	5	1	4	1	5	1	2	1	5	8	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr11:103014114C>T	uc001phn.1	+	17	2836	c.2692C>T	c.(2692-2694)Cga>Tga	p.R898*	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Nonsense_Mutation_p.R898*	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	898	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAAGTAGAACGACTTCCAAG	0.363													T	103014114	C	T	103014114	4	4	87	1	0	0	0	0	0	1	0	0	4885	528	19	1	2762	1	DYNC2H1	11	103014114	Nonsense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	32734848	103014114	31992402	17	5715											
BCL2L14	79370	broad.mit.edu	37	chr12	12232401	12232401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagaacaagaagtttgtcCcagaggggcctggggaattg	11	8	15	7	0	0	3	0	1	0	3	1	5	1	4	2	4	1	1	2	4	4	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:12232401C>T	uc001rac.3	+	1	363	c.162C>T	c.(160-162)tcC>tcT	p.S54S	ETV6_uc001raa.1_Intron|BCL2L14_uc001raf.1_Non-coding_Transcript|BCL2L14_uc001rad.3_Silent_p.S54S|BCL2L14_uc001rae.3_Silent_p.S54S	NM_138723	NP_620049	Q9BZR8	B2L14_HUMAN	Homo sapiens BCL2-like 14 (apoptosis facilitator) (BCL2L14), transcript variant 4, mRNA.	54					apoptosis|regulation of apoptosis	cytosol|endomembrane system|intracellular organelle|membrane	protein binding	p.S54S(2)		large_intestine(1)|lung(2)|skin(3)	6		Prostate(47;0.0872)		BRCA - Breast invasive adenocarcinoma(232;0.154)		GAAGTTTGTCCCAGAGGGGCC	0.488													T	12232401	C	T	12232401	2	4	87	1	0	0	0	0	0	0	0	1	1377	610	22	2		2	BCL2L14	12	12232401	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		12232401	121619494	18	5716											
LIMA1	51474	broad.mit.edu	37	chr12	50575756	50575756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggttggccaagagaCgctccattggatagactgtc	8	10	12	11	1	0	2	0	0	0	2	2	4	1	3	3	3	1	3	3	3	2	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:50575756C>T	uc001rwj.4	-	9	1379	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	LIMA1_uc001rwg.4_Missense_Mutation_p.R100H|LIMA1_uc001rwh.4_Missense_Mutation_p.R241H|LIMA1_uc001rwi.4_Missense_Mutation_p.R243H|LIMA1_uc001rwk.4_Missense_Mutation_p.R403H|LIMA1_uc010sms.2_Non-coding_Transcript|LIMA1_uc010smr.2_Non-coding_Transcript	NM_016357	NP_001230704	Q9UHB6	LIMA1_HUMAN	Homo sapiens LIM domain and actin binding 1 (LIMA1), transcript variant 2, mRNA.	402	LIM zinc-binding.				actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGCCAAGAGACGCTCCATTGG	0.473													T	50575756	C	T	50575756	3	4	87	1	0	0	0	0	1	0	0	0	8856	536	19	1	1082	1	LIMA1	12	50575756	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	38343355	50575756	83276139	19	5717											
DGKA	1606	broad.mit.edu	37	chr12	56330335	56330335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagtgattttgcccagctGcaaaaatacatggaatgtga	13	10	9	9	0	0	2	0	2	0	0	0	3	0	3	2	1	4	2	2	1	4	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr12:56330335G>A	uc001sij.3	+	1	312	c.48G>A	c.(46-48)ctG>ctA	p.L16L	DGKA_uc009zoc.1_Silent_p.L16L|DGKA_uc001sih.1_5'UTR|DGKA_uc001sii.1_5'UTR|DGKA_uc009zod.1_Silent_p.L16L|DGKA_uc009zoe.1_Silent_p.L16L|DGKA_uc001sik.3_Silent_p.L16L|DGKA_uc001sil.3_Silent_p.L16L|DGKA_uc001sim.3_Silent_p.L16L|DGKA_uc001sin.3_Silent_p.L16L|DGKA_uc009zof.3_5'UTR|DGKA_uc001sio.3_5'UTR	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	16					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TTGCCCAGCTGCAAAAATACA	0.527													A	56330335	G	A	56330335	2	1	87	1	0	0	0	0	0	0	0	1	4504	1306	46	2		2	DGKA	12	56330335	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	5754579	56330335	77521560	20	5718											
FREM2	341640	broad.mit.edu	37	chr13	39266205	39266205	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattcactatcacccaggTgcctattcatggccatctcc	10	11	6	14	0	4	0	3	0	1	0	5	1	4	0	4	2	1	0	4	2	3	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr13:39266205T>G	uc001uwv.3	+	0	5033	c.4724T>G	c.(4723-4725)gTg>gGg	p.V1575G		NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	1575					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.V1575M(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATCACCCAGGTGCCTATTCAT	0.418													G	39266205	T	G	39266205	3	3	87	1	0	0	0	0	1	0	0	0	6097	1696	59	5	4726	5	FREM2	13	39266205	Missense_Mutation	SNP	T	TCGA-06-5410-01A-01D-1696-08		39266205	75903673	21	5719											
CHD8	57680	broad.mit.edu	37	chr14	21871325	21871325	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggtcaatggcagcctGtcgaaggttgcctctaactc	9	9	12	11	2	2	0	1	0	1	0	4	2	2	0	2	3	4	2	2	3	4	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:21871325G>A	uc001war.2	-	16	3630	c.3565C>T	c.(3565-3567)Cag>Tag	p.Q1189*	CHD8_uc001was.2_Nonsense_Mutation_p.Q910*|CHD8_uc001wav.1_Nonsense_Mutation_p.Q352*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1189	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ATGGCAGCCTGTCGAAGGTTG	0.478													A	21871325	G	A	21871325	4	1	87	1	0	0	0	0	0	1	0	0	3361	1386	48	2	4264	2	CHD8	14	21871325	Nonsense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08		21871325	85478215	22	5720											
LRFN5	145581	broad.mit.edu	37	chr14	42360496	42360496	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttttctggtcaataatctgGctgctggaactatgtatgac	9	15	9	8	0	3	1	1	1	2	0	3	2	3	2	0	3	2	3	0	3	5	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr14:42360496G>C	uc001wvm.3	+	3	2627	c.1429G>C	c.(1429-1431)Gct>Cct	p.A477P	LRFN5_uc010ana.3_Intron	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	477	Fibronectin type-III.					integral to membrane		p.L476V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CAATAATCTGGCTGCTGGAAC	0.403										HNSCC(30;0.082)			C	42360496	G	C	42360496	3	2	87	1	0	0	0	0	1	0	0	0	9011	1203	42	4	1435	4	LRFN5	14	42360496	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	20489171	42360496	64989044	23	5721											
ZNF263	10127	broad.mit.edu	37	chr16	3339555	3339555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgggcgcctcccccagAgggtggaatggagcaggcct	7	6	17	11	1	0	1	0	0	0	1	1	4	1	4	4	6	1	1	4	6	1	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:3339555A>G	uc002cuq.3	+	5	1381	c.1049A>G	c.(1048-1050)gAg>gGg	p.E350G	ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	350					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						CCTCCCCCAGAGGGTGGAATG	0.617													G	3339555	A	G	3339555	3	3	87	1	0	0	0	0	1	0	0	0	17904	304	11	3	1071	3	ZNF263	16	3339555	Missense_Mutation	SNP	A	TCGA-06-5410-01A-01D-1696-08		3339555	87015198	24	5722											
ADCY9	115	broad.mit.edu	37	chr16	4016471	4016471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgtcctgggcctgcgCggtgttcagccctgacgccg	2	8	15	16	5	1	1	1	1	0	0	2	1	2	1	5	2	3	2	5	2	0	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr16:4016471C>T	uc002cvx.3	-	10	3906	c.3367G>A	c.(3367-3369)Gcg>Acg	p.A1123T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1123	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGCCTGCGCGGTGTTCAGC	0.602													T	4016471	C	T	4016471	3	4	87	1	0	0	0	0	1	0	0	0	301	768	27	1	698	1	ADCY9	16	4016471	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	676916	4016471	86338282	25	5723											
NF1	4763	broad.mit.edu	37	chr17	29533304	29533304	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctgtgtattgtcactCggttgaacttcgaaatatgt	9	16	10	6	2	1	2	1	2	0	0	3	3	1	2	0	1	2	3	0	1	4	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr17:29533304C>A	uc002hgg.3	+	11	1690	c.1307C>A	c.(1306-1308)tCg>tAg	p.S436*	NF1_uc002hge.2_Nonsense_Mutation_p.S436*|NF1_uc002hgf.2_Nonsense_Mutation_p.S436*|NF1_uc002hgh.3_Nonsense_Mutation_p.S436*|NF1_uc010csn.2_Nonsense_Mutation_p.S296*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	436					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATTGTCACTCGGTTGAACTT	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29533304	C	A	29533304	4	1	87	1	0	0	0	0	0	1	0	0	10432	893	31	4	1353	4	NF1	17	29533304	Nonsense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08		29533304	51661906	26	5724											
CYP4F11	57834	broad.mit.edu	37	chr19	16034748	16034748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacggcatctgtgaagtcGtgcaccaggtggcaggccct	8	8	14	11	2	1	2	0	2	1	0	2	2	1	2	2	4	1	3	2	4	1	0			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:16034748G>A	uc002nbu.2	-	6	828	c.792C>T	c.(790-792)caC>caT	p.H264H	CYP4F11_uc010eab.1_Silent_p.H264H|CYP4F11_uc002nbt.2_Silent_p.H264H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	264					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGTGAAGTCGTGCACCAGGT	0.527													A	16034748	G	A	16034748	2	1	87	1	0	0	0	0	0	0	0	1	4219	1136	40	1		1	CYP4F11	19	16034748	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08		16034748	43094235	27	5725											
USE1	55850	broad.mit.edu	37	chr19	17329200	17329200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacgtaaggaagagaaCgtgagtgtctgcggccctgg	10	7	17	7	3	1	2	0	1	1	1	1	6	1	4	1	4	2	1	1	4	3	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:17329200C>T	uc002nfo.2	+	6	482	c.422_splice	c.e6+1	p.T141_splice	USE1_uc002nfn.2_3'UTR|USE1_uc010eal.1_Splice_Site_p.T141_splice	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	141					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						AGGAAGAGAACGTGAGTGTCT	0.582													T	17329200	C	T	17329200	3	4	87	1	0	0	0	0	1	0	0	0	17133	550	19	1	444	1	USE1	19	17329200	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	1294452	17329200	41799783	28	5726											
PSG3	5669	broad.mit.edu	37	chr19	43382389	43382389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcggcttcaatcgtgaCttgggcagtggtgggcaggt	5	11	17	8	2	1	1	1	1	0	0	3	1	1	1	0	6	0	4	0	6	1	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:43382389C>T	uc002ovd.1	-	1	244	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Missense_Mutation_p.V36I|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Missense_Mutation_p.V36I|PSG3_uc002ova.2_Missense_Mutation_p.V36I|PSG3_uc002ouz.2_Missense_Mutation_p.V36I|PSG3_uc002ovb.3_Missense_Mutation_p.V36I	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	36	Ig-like V-type.				defense response|female pregnancy	extracellular region		p.V36V(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TCAATCGTGACTTGGGCAGTG	0.463													T	43382389	C	T	43382389	3	4	87	1	0	0	0	0	1	0	0	0	12741	565	20	2		2	PSG3	19	43382389	Missense_Mutation	SNP	C	TCGA-06-5410-01A-01D-1696-08	26053189	43382389	15746594	29	5727											
CACNG6	59285	broad.mit.edu	37	chr19	54503003	54503003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcctgctccgagttggAgccgtctgctttggcctctc	3	13	12	13	2	2	0	0	0	2	0	5	3	4	1	4	2	3	4	4	2	0	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr19:54503003A>G	uc002qct.3	+	2	1112	c.522A>G	c.(520-522)ggA>ggG	p.G174G	CACNG6_uc002qcu.3_Intron|CACNG6_uc002qcv.3_Intron	NM_145814	NP_665813	Q9BXT2	CCG6_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 6 (CACNG6), transcript variant 1, mRNA.	174						voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.168)		TCCGAGTTGGAGCCGTCTGCT	0.587													G	54503003	A	G	54503003	2	3	87	1	0	0	0	0	0	0	0	1	2587	291	11	3		3	CACNG6	19	54503003	Silent	SNP	A	TCGA-06-5410-01A-01D-1696-08	11120614	54503003	4625980	30	5728											
SYN3	8224	broad.mit.edu	37	chr22	32937634	32937634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaggcctcggtggtggcGtaggttttggccatggcgac	6	10	17	8	3	0	1	0	1	0	0	1	2	0	1	2	7	0	2	2	7	2	3	rs148217218		TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chr22:32937634G>A	uc003amx.3	-	6	1002	c.840C>T	c.(838-840)taC>taT	p.Y280Y	SYN3_uc003amy.3_Silent_p.Y280Y|SYN3_uc003amz.3_Silent_p.Y279Y	NM_003490	NP_003481	O14994	SYN3_HUMAN	Homo sapiens synapsin III (SYN3), transcript variant IIIa, mRNA.	280	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						CGGTGGTGGCGTAGGTTTTGG	0.552													A	32937634	G	A	32937634	2	1	87	1	0	0	0	0	0	0	0	1	15539	1140	40	1		1	SYN3	22	32937634	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08		32937634	18366932	31	5729											
ZBED1	9189	broad.mit.edu	37	chrX	2407462	2407462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtctccttgatgttgagCgtggtgttcaggagcatgtg	5	14	15	7	2	2	2	1	2	1	0	4	3	2	3	1	3	2	3	1	3	0	3			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:2407462C>T	uc022brx.1	-	0	1299	c.1299G>A	c.(1297-1299)acG>acA	p.T433T	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Silent_p.T433T|ZBED1_uc004cqg.2_Silent_p.T433T|ZBED1_uc022brw.1_Silent_p.T433T	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	433						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity	p.T433T(2)		endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATGTTGAGCGTGGTGTTCA	0.597													T	2407462	C	T	2407462	2	4	87	1	0	0	0	0	0	0	0	1	17619	755	27	1		1	ZBED1	23	2407462	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08		2407462	152863098	32	5730											
RAI2	10742	broad.mit.edu	37	chrX	17818684	17818684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccatggactcttccccttGgctgttgatgtcatagccct	5	14	8	14	0	2	1	1	1	1	0	4	2	4	2	4	2	1	2	4	2	1	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:17818684G>C	uc022btm.1	-	0	1447	c.1447C>G	c.(1447-1449)Caa>Gaa	p.Q483E	RAI2_uc004cyf.3_Missense_Mutation_p.Q483E|RAI2_uc004cyg.3_Missense_Mutation_p.Q483E|RAI2_uc011miy.2_Missense_Mutation_p.Q433E|RAI2_uc022btl.1_Missense_Mutation_p.Q483E|RAI2_uc004cyh.4_Missense_Mutation_p.Q483E|RAI2_uc010nfa.3_Missense_Mutation_p.Q483E	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	483					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					TCTTCCCCTTGGCTGTTGATG	0.468													C	17818684	G	C	17818684	3	2	87	1	0	0	0	0	1	0	0	0	13097	1357	47	4	149	4	RAI2	23	17818684	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	15411222	17818684	137451876	33	5731											
EIF2S3	1968	broad.mit.edu	37	chrX	24073154	24073154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaggatctcaccaccttGgtgaggttttgcttggggag	6	12	14	9	1	2	1	2	1	1	0	3	3	2	3	2	5	1	2	2	5	0	4			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:24073154G>A	uc004dbc.3	+	1	90	c.69_splice	c.e1+1	p.L23_splice		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	23						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						TCACCACCTTGGTGAGGTTTT	0.587											OREG0019714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24073154	G	A	24073154	2	1	87	1	0	0	0	0	0	0	0	1	5050	1362	47	2		2	EIF2S3	23	24073154	Silent	SNP	G	TCGA-06-5410-01A-01D-1696-08	6254470	24073154	131197406	34	5732											
PORCN	64840	broad.mit.edu	37	chrX	48368320	48368320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttgccatctgcctcGcctgccgcctcctctggagg	2	11	10	18	2	2	0	0	0	2	0	5	1	4	1	7	2	4	1	7	2	0	1			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:48368320G>A	uc010nie.1	+	1	270	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	PORCN_uc004djq.1_Missense_Mutation_p.A151T|PORCN_uc004djr.1_Missense_Mutation_p.A38T|PORCN_uc004djs.1_Missense_Mutation_p.A38T|PORCN_uc011mlx.1_5'UTR|PORCN_uc004dju.1_5'UTR|PORCN_uc004djv.1_Missense_Mutation_p.A38T|PORCN_uc004djw.1_Missense_Mutation_p.A38T	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	38	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity	p.L37I(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCTGCCTCGCCTGCCGCCT	0.597													A	48368320	G	A	48368320	3	1	87	1	0	0	0	0	1	0	0	0	12335	1087	38	1	114	1	PORCN	23	48368320	Missense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	24295166	48368320	106902240	35	5733											
WNK3	65267	broad.mit.edu	37	chrX	54276526	54276526	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgattgatacagaatcGccaccgaccaactggggatg	11	8	11	11	3	1	3	0	2	1	1	2	5	1	4	3	2	2	0	3	2	3	2			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:54276526G>A	uc004dtc.2	-	15	3053	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	WNK3_uc004dtd.2_Nonsense_Mutation_p.R872*	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	872					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ATACAGAATCGCCACCGACCA	0.423													A	54276526	G	A	54276526	4	1	87	1	0	0	0	0	0	1	0	0	17481	1095	38	1	2824	1	WNK3	23	54276526	Nonsense_Mutation	SNP	G	TCGA-06-5410-01A-01D-1696-08	5908206	54276526	100994034	36	5734											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011568	105011568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaccccttaataacaccCtgaaagatacccaggaattt	15	9	5	12	0	0	2	0	1	0	1	0	3	0	3	4	1	4	1	4	1	6	5			TCGA-06-5410-01A-01D-1696-08	TCGA-06-5410-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67244284-dc40-46cb-a2ac-3f4a38f7bbe4	2df41e20-041f-4e1e-86d9-3c38e36c9b33	g.chrX:105011568C>T	uc004elz.1	+	10	2731	c.1975C>T	c.(1975-1977)Ctg>Ttg	p.L659L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	659					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAATAACACCCTGAAAGATAC	0.448													T	105011568	C	T	105011568	2	4	87	1	0	0	0	0	0	0	0	1	7720	680	24	2		2	IL1RAPL2	23	105011568	Silent	SNP	C	TCGA-06-5410-01A-01D-1696-08	50735042	105011568	50258992	37	5735											
MASP2	10747	broad.mit.edu	37	chr1	11087589	11087589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagttgtcatataaaaGtgcacctgctgctgtggttc	9	12	10	10	0	1	0	1	0	0	0	2	1	1	0	2	1	3	5	2	1	3	4			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:11087589G>A	uc001aru.3	-	10	1446	c.1414C>T	c.(1414-1416)Ctt>Ttt	p.L472F		NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	472	Peptidase S1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		TCATATAAAAGTGCACCTGCT	0.493													A	11087589	G	A	11087589	3	1	88	1	0	0	0	0	1	0	0	0	9398	1029	36	2	650	2	MASP2	1	11087589	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		11087589	238163032	1	5736											
RNF2	6045	broad.mit.edu	37	chr1	185069006	185069006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctttagaagaacttcgaaGcaaaggtgaatcaaaccaga	18	7	9	7	1	1	4	1	1	0	3	2	5	1	4	1	1	4	2	1	1	7	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:185069006G>A	uc001grc.1	+	5	1054	c.821G>A	c.(820-822)aGc>aAc	p.S274N	RNF2_uc001grd.1_Missense_Mutation_p.S202N	NM_007212	NP_009143	Q99496	RING2_HUMAN	Homo sapiens ring finger protein 2 (RNF2), mRNA.	274					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	p.R273*(1)		breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		GAACTTCGAAGCAAAGGTGAA	0.393													A	185069006	G	A	185069006	3	1	88	1	0	0	0	0	1	0	0	0	13563	971	34	2	839	2	RNF2	1	185069006	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	173981417	185069006	64181615	2	5737											
SOX13	9580	broad.mit.edu	37	chr1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-																															ggctgccatgctgtttgagaAgcagcagcagcagatggagc																										TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204085764_204085766delAGC	uc001ham.3	+	4	1143_1145	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_uc001hal.3_In_Frame_Del_p.Q187del|SOX13_uc010pqp.2_In_Frame_Del_p.Q187del|SOX13_uc010pqq.2_In_Frame_Del_p.Q54del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	187	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576													-	204085766	AGC	-	204085764	7	5	88	1	0	1	0	1	0	0	0	0	15038	72	3	0	562	0	SOX13	1	204085764	In_Frame_Del	DEL	AGC	TCGA-06-5411-01A-01D-1696-08	19016758	204085764	45164857	3	5738											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													-	204135377	AGC	-	204135375	7	5	88	1	0	1	0	1	0	0	0	0	13312	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-06-5411-01A-01D-1696-08	49611	204135375	45115246	4	5739											
OR2C3	81472	broad.mit.edu	37	chr1	247695277	247695277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatgaggggcatctcgcaAaagaagtggtcgatgcaatt	14	9	12	6	2	1	2	0	1	1	1	3	3	1	2	0	3	1	3	0	3	5	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr1:247695277A>G	uc021pmb.1	-	0	537	c.537T>C	c.(535-537)ttT>ttC	p.F179F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Intron|C1orf150_uc001idb.4_Intron|C1orf150_uc009xgx.3_Intron|OR2C3_uc001idd.3_5'Flank|OR2C3_uc009xgy.3_Silent_p.F179F	NM_198074	NP_932340	Q8N628	OR2C3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily C, member 3 (OR2C3), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GCATCTCGCAAAAGAAGTGGT	0.557													G	247695277	A	G	247695277	2	3	88	1	0	0	0	0	0	0	0	1	11069	11	1	3		3	OR2C3	1	247695277	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	43559902	247695277	1555344	5	5740											
PIGF	5281	broad.mit.edu	37	chr2	46808672	46808672	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtatatccagagtggtgaaAtaacaaggccagccacgtag	15	7	11	8	1	0	2	0	1	0	1	1	2	1	2	3	2	2	2	3	2	6	4			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:46808672A>G	uc002rvd.3	-	5	769	c.605T>C	c.(604-606)aTt>aCt	p.I202T	RHOQ_uc002rva.3_3'UTR|BC048424_uc002rvb.3_5'Flank|PIGF_uc002rvc.3_3'UTR	NM_002643	NP_002634	Q07326	PIGF_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class F (PIGF), transcript variant 1, mRNA.	202					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	ethanolaminephosphotransferase activity			breast(1)|endometrium(1)|lung(1)|stomach(1)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			GAGTGGTGAAATAACAAGGCC	0.418													G	46808672	A	G	46808672	3	3	88	1	0	0	0	0	1	0	0	0	11964	101	4	3	58	3	PIGF	2	46808672	Missense_Mutation	SNP	A	TCGA-06-5411-01A-01D-1696-08		46808672	196390701	6	5741											
LBX2	85474	broad.mit.edu	37	chr2	74729804	74729804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtttcgtgactttgggggcgGcaggcctgtgagttgttttc	3	15	16	7	2	0	2	0	2	0	0	2	2	0	2	1	4	0	4	1	4	0	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:74729804G>A	uc002slw.3	-	0	640	c.183C>T	c.(181-183)tgC>tgT	p.C61C	LOC151534_uc002slx.2_Non-coding_Transcript	NM_001009812	NP_001009812	Q6XYB7	LBX2_HUMAN	Homo sapiens ladybird homeobox 2 (LBX2), mRNA.	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTTGGGGGCGGCAGGCCTGTG	0.602													A	74729804	G	A	74729804	2	1	88	1	0	0	0	0	0	0	0	1	8713	1195	42	2		2	LBX2	2	74729804	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	27921132	74729804	168469569	7	5742											
FAM176A	84141	broad.mit.edu	37	chr2	75720689	75720689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggtcagcaccagcccGatgcacacgccagaaacaaa	14	2	10	15	2	1	1	1	0	0	1	1	2	1	1	4	1	4	2	4	1	2	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:75720689G>A	uc002sni.2	-	3	610	c.132C>T	c.(130-132)atC>atT	p.I44I	FAM176A_uc002snj.1_Silent_p.I31I|FAM176A_uc002snk.1_Silent_p.I44I	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	44	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GCACCAGCCCGATGCACACGC	0.537													A	75720689	G	A	75720689	2	1	88	1	0	0	0	0	0	0	0	1	5544	1048	37	1		1	FAM176A	2	75720689	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	990885	75720689	167478684	8	5743											
DNAH7	56171	broad.mit.edu	37	chr2	196689149	196689149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaataggatctagttcttCgccaacattttctagcaaca	14	12	5	10	1	3	0	0	0	3	0	4	1	3	1	1	1	3	2	1	1	7	7			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:196689149C>T	uc002utj.4	-	48	9222	c.9121G>A	c.(9121-9123)Gaa>Aaa	p.E3041K		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3041	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAGTTCTTCGCCAACATTT	0.348													T	196689149	C	T	196689149	3	4	88	1	0	0	0	0	1	0	0	0	4645	893	31	1	3021	1	DNAH7	2	196689149	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	120968460	196689149	46510224	9	5744											
ABI2	10152	broad.mit.edu	37	chr2	204260428	204260428	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagtagtcggagcagcagtCgagagaacagtggaagtggt	13	6	16	6	2	0	1	0	0	0	1	2	5	0	3	0	3	3	3	0	3	4	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr2:204260428C>T	uc002vaa.3	+	6	1010	c.775C>T	c.(775-777)Cga>Tga	p.R259*	ABI2_uc010zig.1_Non-coding_Transcript|ABI2_uc010zij.2_Nonsense_Mutation_p.R197*|ABI2_uc002uzz.3_Nonsense_Mutation_p.R253*|ABI2_uc010zih.2_Intron|ABI2_uc010zii.2_Nonsense_Mutation_p.R253*|ABI2_uc002vab.3_Nonsense_Mutation_p.R208*|ABI2_uc010zik.2_Nonsense_Mutation_p.R45*|ABI2_uc010zil.2_Nonsense_Mutation_p.R94*|ABI2_uc010zim.2_Nonsense_Mutation_p.R45*|ABI2_uc002vac.3_Nonsense_Mutation_p.R45*|ABI2_uc010zin.2_Intron	NM_005759	NP_005750	Q9NYB9	ABI2_HUMAN	Homo sapiens abl-interactor 2 (ABI2), mRNA.	259	Pro-rich.				actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GAGCAGCAGTCGAGAGAACAG	0.478													T	204260428	C	T	204260428	4	4	88	1	0	0	0	0	0	1	0	0	89	876	31	1	779	1	ABI2	2	204260428	Nonsense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	7571279	204260428	38938945	10	5745											
RAF1	5894	broad.mit.edu	37	chr3	12632402	12632402	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctgccctcgcaccacTgggtcacaattgccaggttg	6	9	12	14	1	1	0	1	0	0	0	2	0	1	0	3	3	3	4	3	3	1	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:12632402T>C	uc003bxf.4	-	11	1680	c.1265A>G	c.(1264-1266)cAg>cGg	p.Q422R	RAF1_uc011aut.2_Missense_Mutation_p.Q207R|RAF1_uc011auu.2_Missense_Mutation_p.Q340R	NM_002880	NP_002871	P04049	RAF1_HUMAN	Homo sapiens v-raf-1 murine leukemia viral oncogene homolog 1 (RAF1), mRNA.	422	Protein kinase.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	CTCGCACCACTGGGTCACAAT	0.542			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				C	12632402	T	C	12632402	3	2	88	1	0	0	0	0	1	0	0	0	13090	1580	55	3	705	3	RAF1	3	12632402	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		12632402	185390028	11	5746											
SCN5A	6331	broad.mit.edu	37	chr3	38591931	38591931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtggctctagtgacactgtCataggagggtgggaaggaag	10	8	18	5	0	2	1	1	1	1	0	2	4	2	4	0	6	0	1	0	6	4	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:38591931C>G	uc021wvo.1	-	26	5984	c.5932G>C	c.(5932-5934)Gac>Cac	p.D1978H	SCN5A_uc021wvk.1_Missense_Mutation_p.D1945H|SCN5A_uc021wvl.1_Missense_Mutation_p.D1924H|SCN5A_uc021wvm.1_Missense_Mutation_p.D1960H|SCN5A_uc021wvn.1_Missense_Mutation_p.D1977H|SCN5A_uc021wvp.1_Missense_Mutation_p.D1978H|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Missense_Mutation_p.D1790H|SCN5A_uc021wvi.1_Missense_Mutation_p.D1844H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1978					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GTGACACTGTCATAGGAGGGT	0.602													G	38591931	C	G	38591931	3	3	88	1	0	0	0	0	1	0	0	0	14015	826	29	4	122	4	SCN5A	3	38591931	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	25959529	38591931	159430499	12	5747											
SLC9A9	285195	broad.mit.edu	37	chr3	143212496	143212496	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataacatagttcacataccTgaaaacatcatcatgtgctg	15	12	5	9	0	3	1	3	1	0	0	3	1	3	1	1	0	4	2	1	0	6	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr3:143212496T>C	uc003evn.3	-	11	1524	c.1315_splice	c.e11+1	p.G439_splice		NM_173653	NP_775924	Q8IVB4	SL9A9_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 9 (SLC9A9), mRNA.	439					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						TTCACATACCTGAAAACATCA	0.403													C	143212496	T	C	143212496	2	2	88	1	0	0	0	0	0	0	0	1	14815	1594	55	3		3	SLC9A9	3	143212496	Silent	SNP	T	TCGA-06-5411-01A-01D-1696-08	104620565	143212496	54809934	13	5748											
KIT	3815	broad.mit.edu	37	chr4	55597497	55597497	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcatctctcccagcagCgatagtactaatgagtacat	11	13	7	10	1	2	1	1	1	1	0	4	2	3	1	1	0	4	4	1	0	4	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:55597497C>T	uc010igr.3	+	14	2232	c.2145C>T	c.(2143-2145)agC>agT	p.S715S	KIT_uc010igs.3_Silent_p.S711S|KIT_uc010igt.2_Splice_Site_p.C163_splice	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	715	Protein kinase.		S -> N (in dbSNP:rs56094246).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S715del(14)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTCCCAGCAGCGATAGTACTA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				T	55597497	C	T	55597497	2	4	88	1	0	0	0	0	0	0	0	1	8387	767	27	1		1	KIT	4	55597497	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		55597497	135556779	14	5749											
ARL9	132946	broad.mit.edu	37	chr4	57389924	57389924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttggcattatctgaagtggGaaatgacaggaagatgttct	12	13	12	4	0	2	3	0	2	2	1	2	5	2	5	0	3	0	2	0	3	4	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:57389924G>A	uc003hby.1	+	3	702	c.254G>A	c.(253-255)gGa>gAa	p.G85E		NM_206919	NP_996802	Q6T311	ARL9_HUMAN	Homo sapiens ADP-ribosylation factor-like 9 (ARL9), mRNA.	149							GTP binding			lung(2)	2	Glioma(25;0.08)|all_neural(26;0.101)					TCTGAAGTGGGAAATGACAGG	0.433													A	57389924	G	A	57389924	3	1	88	1	0	0	0	0	1	0	0	0	953	1174	41	2	264	2	ARL9	4	57389924	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	1792427	57389924	133764352	15	5750											
UGT2B10	7365	broad.mit.edu	37	chr4	69885591	69885591	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggagtgaagctgtgaCtgtacacaaagggtatgtta	13	9	13	6	0	0	2	0	2	0	0	0	3	0	3	1	2	3	4	1	2	5	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:69885591C>G	uc011cao.1	-	2	503	c.377G>C	c.(376-378)aGt>aCt	p.S126T	UGT2B10_uc011can.1_Intron			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	170					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GAAGCTGTGACTGTACACAAA	0.408													G	69885591	C	G	69885591	3	3	88	1	0	0	0	0	1	0	0	0	17058	564	20	4	2712	4	UGT2B10	4	69885591	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	12495667	69885591	121268685	16	5751											
MUC7	4589	broad.mit.edu	37	chr4	71346617	71346617	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacattatcctggactgctAgctcaccagaagccgttcat	10	10	7	14	1	2	1	2	0	0	1	3	2	3	2	4	1	3	3	4	1	3	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr4:71346617A>G	uc011cat.2	+	3	444	c.156A>G	c.(154-156)ctA>ctG	p.L52L	MUC7_uc011cau.2_Silent_p.L52L|MUC7_uc003hfj.3_Silent_p.L52L	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	52						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CTGGACTGCTAGCTCACCAGA	0.453													G	71346617	A	G	71346617	2	3	88	1	0	0	0	0	0	0	0	1	10057	407	15	3		3	MUC7	4	71346617	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	1461026	71346617	119807659	17	5752											
CARD6	84674	broad.mit.edu	37	chr5	40853218	40853218	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagtgaagaggctcaaaTttttcagaggatactgaact	14	10	12	5	0	2	5	2	2	0	3	2	7	2	6	0	3	2	1	0	3	4	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:40853218T>A	uc003jmg.3	+	2	1859	c.1784T>A	c.(1783-1785)aTt>aAt	p.I595N		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	595					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAGGCTCAAATTTTTCAGAGG	0.483													A	40853218	T	A	40853218	3	1	88	1	0	0	0	0	1	0	0	0	2676	1493	52	5	1794	5	CARD6	5	40853218	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		40853218	140062042	18	5753											
RGNEF	64283	broad.mit.edu	37	chr5	73045681	73045681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcagatgatgatctatgCgaagtttgacaaaaatgtgt	13	11	13	4	1	1	4	0	3	1	1	1	5	1	4	0	2	1	2	0	2	4	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:73045681C>T	uc010izf.3	+	2	229	c.53C>T	c.(52-54)gCg>gTg	p.A18V	RGNEF_uc011csq.2_Missense_Mutation_p.A18V|RGNEF_uc003kcy.1_Missense_Mutation_p.A18V|RGNEF_uc021yam.1_Missense_Mutation_p.A18V	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	18					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		ATGATCTATGCGAAGTTTGAC	0.443													T	73045681	C	T	73045681	3	4	88	1	0	0	0	0	1	0	0	0	13371	768	27	1	59	1	RGNEF	5	73045681	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	32192463	73045681	107869579	19	5754											
GABRA6	2559	broad.mit.edu	37	chr5	161119124	161119124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatcttcagacacagaaggCcaaaaggaaggcacagtttg	16	6	10	9	0	2	2	1	0	1	2	2	3	2	3	1	3	0	2	1	3	5	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:161119124C>T	uc003lyu.2	+	7	1342	c.1004C>T	c.(1003-1005)gCc>gTc	p.A335V	GABRA6_uc003lyv.2_Missense_Mutation_p.A106V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	335					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACACAGAAGGCCAAAAGGAAG	0.438										TCGA Ovarian(5;0.080)			T	161119124	C	T	161119124	3	4	88	1	0	0	0	0	1	0	0	0	6217	739	26	2	1034	2	GABRA6	5	161119124	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	88073443	161119124	19796136	20	5755											
TLX3	30012	broad.mit.edu	37	chr5	170736674	170736674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccggggccgtgccacCgcctctgccaagcgcgctac	4	5	13	19	5	1	0	0	0	1	0	1	0	1	0	6	2	5	2	6	2	2	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr5:170736674C>T	uc003mbf.3	+	0	387	c.305C>T	c.(304-306)cCg>cTg	p.P102L	AX746723_uc003mbe.1_5'Flank	NM_021025	NP_066305	O43711	TLX3_HUMAN	Homo sapiens T-cell leukemia homeobox 3 (TLX3), mRNA.	102						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCCGTGCCACCGCCTCTGCCA	0.701			T	BCL11B	T-ALL								T	170736674	C	T	170736674	3	4	88	1	0	0	0	0	1	0	0	0	16062	652	23	1	307	1	TLX3	5	170736674	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	9617550	170736674	10178586	21	5756											
DNAH11	8701	broad.mit.edu	37	chr7	21784532	21784532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacagcccctcatttattgCcactttgctgatagagggaa	11	11	8	11	0	1	2	1	1	0	1	1	3	1	3	3	1	4	1	3	1	4	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:21784532C>T	uc003svc.3	+	51	8413	c.8382C>T	c.(8380-8382)tgC>tgT	p.C2794C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	2794					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TCATTTATTGCCACTTTGCTG	0.448									Kartagener syndrome				T	21784532	C	T	21784532	2	4	88	1	0	0	0	0	0	0	0	1	4638	747	26	2		2	DNAH11	7	21784532	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		21784532	137354131	22	5757											
OR6V1	346517	broad.mit.edu	37	chr7	142749846	142749846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggcactctgatgagccggGctatgtgtgtccagctggct	6	11	14	10	1	1	2	0	2	1	0	2	2	2	2	2	3	2	4	2	3	1	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr7:142749846G>T	uc011ksv.2	+	0	409	c.409G>T	c.(409-411)Gct>Tct	p.A137S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GATGAGCCGGGCTATGTGTGT	0.597													T	142749846	G	T	142749846	3	4	88	1	0	0	0	0	1	0	0	0	11287	1203	42	4	411	4	OR6V1	7	142749846	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	120965314	142749846	16388817	23	5758											
TEX15	56154	broad.mit.edu	37	chr8	30695499	30695499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcaaccttttttggCgttaaatgatttcttttcag	8	20	6	7	1	3	1	2	1	1	0	3	1	3	1	1	1	2	2	1	1	3	8			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:30695499C>T	uc003xil.3	-	2	7152	c.7152G>A	c.(7150-7152)acG>acA	p.T2384T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2384										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CCTTTTTTGGCGTTAAATGAT	0.388													T	30695499	C	T	30695499	2	4	88	1	0	0	0	0	0	0	0	1	15879	755	27	1		1	TEX15	8	30695499	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		30695499	115668523	24	5759											
GPR124	25960	broad.mit.edu	37	chr8	37697018	37697018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagactgtttccgggcagcTccatccgtgtgtcccggaaa	7	9	12	13	4	0	1	0	0	0	1	4	3	4	2	4	2	1	3	4	2	1	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr8:37697018T>C	uc003xkj.3	+	16	2774	c.2388_splice	c.e16-1	p.S796_splice	GPR124_uc010lvy.3_Splice_Site_p.S579_splice	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	796					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCCGGGCAGCTCCATCCGTGT	0.592													C	37697018	T	C	37697018	3	2	88	1	0	0	0	0	1	0	0	0	6692	1565	54	3	2430	3	GPR124	8	37697018	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08	7001519	37697018	108667004	25	5760											
TBC1D2	55357	broad.mit.edu	37	chr9	101014108	101014108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccattcccagccagggcgGcatcaggggtggcaggaggt	7	5	17	12	1	1	0	1	0	0	0	2	1	2	1	3	7	1	2	3	7	0	1			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:101014108G>A	uc011lvb.2	-	1	650	c.470C>T	c.(469-471)gCc>gTc	p.A157V	TBC1D2_uc004ayq.3_Missense_Mutation_p.A157V|TBC1D2_uc004ayr.3_Intron	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	157	Interaction with CADH1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGCCAGGGCGGCATCAGGGGT	0.637													A	101014108	G	A	101014108	3	1	88	1	0	0	0	0	1	0	0	0	15705	1203	42	2	2331	2	TBC1D2	9	101014108	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		101014108	40199323	26	5761											
TTLL11	158135	broad.mit.edu	37	chr9	124751932	124751932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgctctggagggtccctgCcaggcggatgtcactggggt	4	9	16	12	1	2	0	1	0	1	0	3	2	3	2	3	6	2	1	3	6	0	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124751932C>T	uc011lyl.2	-	3	1269	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	TTLL11_uc004blr.3_Non-coding_Transcript|TTLL11_uc011lym.1_Missense_Mutation_p.A38T|TTLL11_uc004blt.1_Missense_Mutation_p.A361T|TTLL11_uc004blu.1_3'UTR	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	361	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AGGGTCCCTGCCAGGCGGATG	0.517													T	124751932	C	T	124751932	3	4	88	1	0	0	0	0	1	0	0	0	16826	739	26	2	1423	2	TTLL11	9	124751932	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	23737824	124751932	16461499	27	5762											
TTLL11	158135	broad.mit.edu	37	chr9	124794081	124794081	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcaggaaagagattcTgcatggttctcactgctctg	9	12	9	11	0	4	1	2	0	3	1	6	3	5	2	1	2	2	3	1	2	1	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr9:124794081T>A	uc011lyl.2	-	2	1072	c.884A>T	c.(883-885)cAg>cTg	p.Q295L	TTLL11_uc004blr.3_Intron|TTLL11_uc011lym.1_Intron|TTLL11_uc004blt.1_Missense_Mutation_p.Q295L|TTLL11_uc004blu.1_Intron	NM_001139442	NP_001132914	Q8NHH1	TTL11_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 11 (TTLL11), transcript variant 1, mRNA.	295	TTL.				protein modification process	cilium|microtubule basal body	tubulin-tyrosine ligase activity	p.Q295Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(3)|skin(1)	18						AAAGAGATTCTGCATGGTTCT	0.507													A	124794081	T	A	124794081	3	1	88	1	0	0	0	0	1	0	0	0	16826	1580	55	5	1624	5	TTLL11	9	124794081	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08	42149	124794081	16419350	28	5763											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692904	C	T	89692904	4	4	88	1	0	0	0	0	0	1	0	0	12823	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		89692904	45841843	29	5764											
ANO9	338440	broad.mit.edu	37	chr11	420528	420528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttgatggcgtccaggCggatctccacgaggttgctg	6	10	13	12	3	2	1	0	1	2	0	4	3	3	2	3	4	1	2	3	4	0	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:420528C>T	uc001lpi.2	-	18	1806	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	ANO9_uc001lph.2_Missense_Mutation_p.R267H|ANO9_uc010qvv.1_Missense_Mutation_p.R430H	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	574						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GGCGTCCAGGCGGATCTCCAC	0.682													T	420528	C	T	420528	3	4	88	1	0	0	0	0	1	0	0	0	704	768	27	1	647	1	ANO9	11	420528	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		420528	134585988	30	5765											
OR4D11	219986	broad.mit.edu	37	chr11	59271634	59271634	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgacacttttgctcttGagttcttgatgatttccaac	8	16	7	10	0	2	4	0	4	2	0	3	4	3	4	1	0	2	3	1	0	1	6			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:59271634G>T	uc001noa.1	+	0	586	c.586G>T	c.(586-588)Gag>Tag	p.E196*		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	196					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L195H(1)		endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TTTTGCTCTTGAGTTCTTGAT	0.493													T	59271634	G	T	59271634	4	4	88	1	0	0	0	0	0	1	0	0	11131	1291	45	4	588	4	OR4D11	11	59271634	Nonsense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	58851106	59271634	75734882	31	5766											
CTTN	2017	broad.mit.edu	37	chr11	70255986	70255986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagagcatcagacccttaagGagaaggaacttgaaacagga	18	5	11	7	0	1	4	1	1	0	3	1	7	1	6	1	3	3	1	1	3	5	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr11:70255986G>A	uc001opv.4	+	4	417	c.211G>A	c.(211-213)Gag>Aag	p.E71K	CTTN_uc001opu.3_Missense_Mutation_p.E71K|CTTN_uc001opw.4_Missense_Mutation_p.E71K	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	71						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	p.K70N(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GACCCTTAAGGAGAAGGAACT	0.468													A	70255986	G	A	70255986	3	1	88	1	0	0	0	0	1	0	0	0	4077	1175	41	2	221	2	CTTN	11	70255986	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	10984352	70255986	64750530	32	5767											
PRB3	5544	broad.mit.edu	37	chr12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420518G>A	uc001qzs.3	-	2	703	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	222	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding	p.R221S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617													A	11420518	G	A	11420518	3	1	88	1	0	0	0	0	1	0	0	0	12530	1116	39	1	272	1	PRB3	12	11420518	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		11420518	122431377	33	5768			1	18		2	2	64	G		9.76799e-05
PRB3	5544	broad.mit.edu	37	chr12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3	rs71057716		TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:11420581G>A	uc001qzs.3	-	2	640	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB4_uc001qzf.1_Intron	NM_006249	NP_006240	Q04118	PRB3_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 3 (PRB3), mRNA.	201	10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding	p.R200C(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632													A	11420581	G	A	11420581	3	1	88	1	0	0	0	0	1	0	0	0	12530	1116	39	1	335	1	PRB3	12	11420581	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	63	11420581	122431314	34	5769			1	18		2	2	64	G		9.76799e-05
MYF6	4618	broad.mit.edu	37	chr12	81101720	81101720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctccacactgcccCggccagtgtctgatctgggc	5	8	11	17	1	2	1	0	1	2	0	3	1	3	1	5	2	3	1	5	2	0	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:81101720C>T	uc001szf.2	+	0	313	c.222C>T	c.(220-222)ccC>ccT	p.P74P		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	74					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						CACACTGCCCCGGCCAGTGTC	0.652													T	81101720	C	T	81101720	2	4	88	1	0	0	0	0	0	0	0	1	10104	639	23	1		1	MYF6	12	81101720	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08	69681139	81101720	52750175	35	5770											
UBC	7316	broad.mit.edu	37	chr12	125397269	125397269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcttccagctgttttccgGcaaagatcaacctctgctgg	8	12	8	13	1	3	1	1	0	2	1	5	1	5	1	3	2	3	4	3	2	2	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr12:125397269G>A	uc001ugs.4	-	1	1507	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	UBC_uc001ugr.3_Intron|UBC_uc001ugt.3_Missense_Mutation_p.A350V|UBC_uc001ugu.1_Missense_Mutation_p.A350V|UBC_uc001ugv.3_Intron|UBC_uc021rge.1_Missense_Mutation_p.A350V|UBC_uc001ugw.3_Missense_Mutation_p.A198V	NM_021009	NP_066289	P0CG48	UBC_HUMAN	Homo sapiens ubiquitin C (UBC), mRNA.	350	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.522													A	125397269	G	A	125397269	3	1	88	1	0	0	0	0	1	0	0	0	16944	1203	42	2	1012	2	UBC	12	125397269	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	44295549	125397269	8454626	36	5771											
CCNA1	8900	broad.mit.edu	37	chr13	37011790	37011790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagaatcaggtgttatTctggatcagaaaatgccttc	13	12	8	8	0	4	2	3	0	1	2	5	3	4	3	1	2	1	1	1	2	5	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr13:37011790T>A	uc001uvr.4	+	2	672	c.322T>A	c.(322-324)Tct>Act	p.S108T	CCNA1_uc010teo.2_Missense_Mutation_p.S64T|CCNA1_uc010abq.3_Missense_Mutation_p.S64T|CCNA1_uc010abp.3_Missense_Mutation_p.S64T|CCNA1_uc001uvs.4_Missense_Mutation_p.S107T|CCNA1_uc010abr.3_Non-coding_Transcript	NM_003914	NP_001104517	P78396	CCNA1_HUMAN	Homo sapiens cyclin A1 (CCNA1), transcript variant 1, mRNA.	108					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding	p.Y107Y(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAGGTGTTATTCTGGATCAGA	0.468													A	37011790	T	A	37011790	3	1	88	1	0	0	0	0	1	0	0	0	2939	1783	62	5	332	5	CCNA1	13	37011790	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		37011790	78158088	37	5772											
C15orf2	23742	broad.mit.edu	37	chr15	24921520	24921520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaggatccggtgcagaTcgaaggggaggatgacgaga	12	5	19	5	3	0	4	0	2	0	2	2	10	1	8	1	6	1	1	1	6	1	0			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr15:24921520T>C	uc001ywo.3	+	0	980	c.506T>C	c.(505-507)aTc>aCc	p.I169T		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	169					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCGGTGCAGATCGAAGGGGAG	0.612													C	24921520	T	C	24921520	3	2	88	1	0	0	0	0	1	0	0	0	1797	1435	50	3	508	3	C15orf2	15	24921520	Missense_Mutation	SNP	T	TCGA-06-5411-01A-01D-1696-08		24921520	77609872	38	5773											
MYO15A	51168	broad.mit.edu	37	chr17	18024801	18024801	+	Frame_Shift_Del	DEL	G	G	-																															gcccttccaccgaccgcccaGggccggggcctggcgggcgc																										TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr17:18024801delG	uc021trm.1	+	0	2906	c.2687delG	c.(2686-2688)aggfs	p.R896fs	MYO15A_uc021trl.1_Frame_Shift_Del_p.R896fs	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	896	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACCGCCCAGGGCCGGGGCC	0.741													-	18024801	G	-	18024801	7	5	88	1	0	1	0	1	0	0	0	0	10139	1000	35	0	2689	0	MYO15A	17	18024801	Frame_Shift_Del	DEL	G	TCGA-06-5411-01A-01D-1696-08		18024801	63170409	39	5774											
DSG4	147409	broad.mit.edu	37	chr18	28992962	28992962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatccaaaatttaggactCttgctgagatctgcttaaac	13	13	7	8	0	2	2	0	1	2	2	3	4	3	3	1	1	3	2	1	1	6	5			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:28992962C>T	uc002kwr.2	+	14	2719	c.2584C>T	c.(2584-2586)Ctt>Ttt	p.L862F	DSG4_uc002kwq.2_Missense_Mutation_p.L843F	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	843					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			ATTTAGGACTCTTGCTGAGAT	0.438													T	28992962	C	T	28992962	3	4	88	1	0	0	0	0	1	0	0	0	4818	913	32	2	2710	2	DSG4	18	28992962	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		28992962	49084286	40	5775											
LMAN1	3998	broad.mit.edu	37	chr18	57014768	57014768	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttttccaggttcagtcaActggaaagtcagaaaagaaa	15	10	8	8	0	4	2	3	0	1	2	5	3	5	3	1	2	1	1	1	2	5	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr18:57014768A>G	uc002lhz.3	-	6	831	c.799T>C	c.(799-801)Ttg>Ctg	p.L267L		NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	267	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	GGTTCAGTCAACTGGAAAGTC	0.313													G	57014768	A	G	57014768	2	3	88	1	0	0	0	0	0	0	0	1	8897	40	2	3		3	LMAN1	18	57014768	Silent	SNP	A	TCGA-06-5411-01A-01D-1696-08	28021806	57014768	21062480	41	5776											
CEACAM20	125931	broad.mit.edu	37	chr19	45016954	45016954	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtggggtgctcctcCttcgggatgggttgtgaggt	2	13	18	8	1	1	1	0	1	1	0	4	2	3	2	2	6	1	3	2	6	0	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:45016954C>T	uc010ejn.1	-	8	1501	c.1485G>A	c.(1483-1485)aaG>aaA	p.K495K	CEACAM20_uc010ejo.1_Silent_p.K495K|CEACAM20_uc010ejp.1_Silent_p.K402K|CEACAM20_uc010ejq.1_Silent_p.K402K	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	495						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GGTGCTCCTCCTTCGGGATGG	0.587											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45016954	C	T	45016954	2	4	88	1	0	0	0	0	0	0	0	1	3221	690	24	2		2	CEACAM20	19	45016954	Silent	SNP	C	TCGA-06-5411-01A-01D-1696-08		45016954	14112029	42	5777											
A1BG	1	broad.mit.edu	37	chr19	58858802	58858802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtagcggcacctgtagttgCcggcgtgctggggccccacg	4	7	17	13	4	0	0	0	0	0	0	0	0	0	0	4	5	3	5	4	5	2	3			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr19:58858802C>T	uc002qsd.4	-	6	1459	c.1397G>A	c.(1396-1398)gGc>gAc	p.G466D	A1BG-AS1_uc002qse.3_5'Flank	NM_130786	NP_570602	P04217	A1BG_HUMAN	Homo sapiens alpha-1-B glycoprotein (A1BG), mRNA.	466	Ig-like V-type 5.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		CCTGTAGTTGCCGGCGTGCTG	0.692													T	58858802	C	T	58858802	3	4	88	1	0	0	0	0	1	0	0	0	1	739	26	2	98	2	A1BG	19	58858802	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08	13841848	58858802	270181	43	5778											
KIF16B	55614	broad.mit.edu	37	chr20	16337022	16337022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttgcccgcagaggaCgtagcgtgggatactaattt	8	12	11	10	3	0	1	0	0	0	1	1	3	1	3	2	2	3	2	2	2	3	6			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:16337022C>T	uc002wpg.2	-	22	3733	c.3574G>A	c.(3574-3576)Gtc>Atc	p.V1192I	KIF16B_uc002wpe.1_Missense_Mutation_p.V574I|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Missense_Mutation_p.V1141I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1192	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CCGCAGAGGACGTAGCGTGGG	0.498													T	16337022	C	T	16337022	3	4	88	1	0	0	0	0	1	0	0	0	8336	536	19	1	395	1	KIF16B	20	16337022	Missense_Mutation	SNP	C	TCGA-06-5411-01A-01D-1696-08		16337022	46688498	44	5779											
PCK1	5105	broad.mit.edu	37	chr20	56137841	56137841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgacggattcaccctacGtggtggccagcatgcggatc	8	8	13	12	3	1	1	1	1	0	0	2	3	1	3	2	4	4	2	2	4	1	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr20:56137841G>A	uc002xyn.4	+	3	659	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	166					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTCACCCTACGTGGTGGCCAG	0.617													A	56137841	G	A	56137841	3	1	88	1	0	0	0	0	1	0	0	0	11657	1145	40	1	506	1	PCK1	20	56137841	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	39800819	56137841	6887679	45	5780											
NRIP1	8204	broad.mit.edu	37	chr21	16340303	16340303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagacccctgatatgtatGtgtattgagaactggaccat	11	11	10	9	0	0	3	0	2	0	2	0	5	0	4	4	1	1	2	4	1	4	4			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:16340303G>A	uc021whl.1	-	0	211	c.211C>T	c.(211-213)Cat>Tat	p.H71Y	NRIP1_uc002yjx.2_Missense_Mutation_p.H71Y	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	71					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGATATGTATGTGTATTGAGA	0.458													A	16340303	G	A	16340303	3	1	88	1	0	0	0	0	1	0	0	0	10728	1377	48	2	3269	2	NRIP1	21	16340303	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08		16340303	31789592	46	5781											
TIAM1	7074	broad.mit.edu	37	chr21	32639088	32639088	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaggccattttcagccagGgactgggggatgctgggggt	6	9	17	9	0	1	0	1	0	0	0	2	2	2	2	3	6	2	1	3	6	0	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:32639088G>C	uc002yow.1	-	4	673	c.201C>G	c.(199-201)tcC>tcG	p.S67S	TIAM1_uc011adk.1_Silent_p.S67S|TIAM1_uc011adl.1_Silent_p.S67S|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	67					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TTTCAGCCAGGGACTGGGGGA	0.617													C	32639088	G	C	32639088	2	2	88	1	0	0	0	0	0	0	0	1	15990	1219	43	4		4	TIAM1	21	32639088	Silent	SNP	G	TCGA-06-5411-01A-01D-1696-08	16298785	32639088	15490807	47	5782											
CBR1	873	broad.mit.edu	37	chr21	37445093	37445093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagaagaaggtgcagaGacccctgtgtacttggccct	10	7	12	12	0	0	3	0	0	0	3	0	4	0	3	4	2	3	2	4	2	3	2			TCGA-06-5411-01A-01D-1696-08	TCGA-06-5411-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2fdab641-d73b-4f9a-aa4c-c1944f131a69	0f88c693-5a30-43b1-be9e-c96a791d984c	g.chr21:37445093G>T	uc002yvb.1	+	2	876	c.747G>T	c.(745-747)gaG>gaT	p.E249D	LOC100133286_uc011aea.1_Intron|SETD4_uc002yva.3_Intron|CBR1_uc010gmy.1_3'UTR	NM_001757	NP_001748	P16152	CBR1_HUMAN	Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	249					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	AAGGTGCAGAGACCCCTGTGT	0.572													T	37445093	G	T	37445093	3	4	88	1	0	0	0	0	1	0	0	0	2734	933	33	4	757	4	CBR1	21	37445093	Missense_Mutation	SNP	G	TCGA-06-5411-01A-01D-1696-08	4806005	37445093	10684802	48	5783											
CASZ1	54897	broad.mit.edu	37	chr1	10713867	10713867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggcggcagccagggaCgcagaggactgctggctggt	7	5	19	10	2	0	1	0	0	0	1	0	3	0	3	1	6	2	5	1	6	0	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:10713867C>T	uc001aro.3	-	10	2567	c.2247G>A	c.(2245-2247)gcG>gcA	p.A749A	CASZ1_uc001arp.1_Silent_p.A749A|CASZ1_uc009vmx.2_Silent_p.A773A	NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	749					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CAGCCAGGGACGCAGAGGACT	0.667													T	10713867	C	T	10713867	2	4	89	1	0	0	0	0	0	0	0	1	2711	523	19	1		1	CASZ1	1	10713867	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08		10713867	238536754	1	5784											
GLIS1	148979	broad.mit.edu	37	chr1	54059816	54059816	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcgcccgagtgcactcGcatgtggatgagcagcttgt	6	11	12	12	3	1	1	0	1	1	0	3	3	1	2	1	1	3	4	1	1	0	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:54059816G>A	uc001cvr.1	-	2	1327	c.760C>T	c.(760-762)Cga>Tga	p.R254*		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	254					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GAGTGCACTCGCATGTGGATG	0.652													A	54059816	G	A	54059816	4	1	89	1	0	0	0	0	0	1	0	0	6501	1095	38	1	1134	1	GLIS1	1	54059816	Nonsense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	43345949	54059816	195190805	2	5785											
INADL	10207	broad.mit.edu	37	chr1	62228837	62228837	+	Frame_Shift_Del	DEL	C	C	-																															cacttcagcagtccatcaagCaactgaagggtcaagtaagt																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:62228837delC	uc001dab.3	+	2	289	c.175delC	c.(175-177)caafs	p.Q59fs	INADL_uc009waf.1_Frame_Shift_Del_p.Q59fs|INADL_uc001daa.2_Frame_Shift_Del_p.Q59fs	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	59	L27.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTCCATCAAGCAACTGAAGGG	0.363													-	62228837	C	-	62228837	7	5	89	1	0	1	0	1	0	0	0	0	7789	711	25	0	181	0	INADL	1	62228837	Frame_Shift_Del	DEL	C	TCGA-06-5412-01A-01D-1696-08	8169021	62228837	187021784	3	5786											
ITGA10	8515	broad.mit.edu	37	chr1	145532131	145532131	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcacagaagggttcagtCagtcccatgggggccgaccc	9	6	13	13	1	3	1	3	0	0	1	4	2	4	1	3	3	1	2	3	3	1	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:145532131C>T	uc001eoa.3	+	7	851	c.775C>T	c.(775-777)Cag>Tag	p.Q259*	ITGA10_uc010oyv.2_Nonsense_Mutation_p.Q128*|ITGA10_uc009wiw.3_Nonsense_Mutation_p.Q116*|ITGA10_uc010oyw.2_Nonsense_Mutation_p.Q204*	NM_003637	NP_003628	O75578	ITA10_HUMAN	Homo sapiens integrin, alpha 10 (ITGA10), mRNA.	259	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AGGGTTCAGTCAGTCCCATGG	0.542													T	145532131	C	T	145532131	4	4	89	1	0	0	0	0	0	1	0	0	7931	827	29	2	805	2	ITGA10	1	145532131	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	83303294	145532131	103718490	4	5787											
CRTC2	200186	broad.mit.edu	37	chr1	153923904	153923904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagggtaagagggggcGcccaaaacaggagatgaagt	15	3	17	6	1	0	3	0	1	0	2	0	5	0	3	1	4	2	2	1	4	5	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:153923904G>A	uc021pab.1	-	10	1395	c.1236C>T	c.(1234-1236)ggC>ggT	p.G412G	CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Intron	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	412					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AAGAGGGGGCGCCCAAAACAG	0.672													A	153923904	G	A	153923904	2	1	89	1	0	0	0	0	0	0	0	1	3931	1074	38	1		1	CRTC2	1	153923904	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	8391773	153923904	95326717	5	5788											
ZNF496	84838	broad.mit.edu	37	chr1	247464120	247464120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaccggctggagtctgtCcggctgcaggtgtatccgcc	4	9	13	15	3	1	0	0	0	1	0	4	1	4	1	5	4	1	4	5	4	1	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:247464120C>T	uc009xgv.3	-	7	1610	c.1573G>A	c.(1573-1575)Gac>Aac	p.D525N	ZNF496_uc001ico.3_Missense_Mutation_p.D489N	NM_032752	NP_116141	Q96IT1	ZN496_HUMAN	Homo sapiens zinc finger protein 496 (ZNF496), mRNA.	489					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TGGAGTCTGTCCGGCTGCAGG	0.642													T	247464120	C	T	247464120	3	4	89	1	0	0	0	0	1	0	0	0	18046	855	30	2	302	2	ZNF496	1	247464120	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	93540216	247464120	1786501	6	5789											
OR2G6	391211	broad.mit.edu	37	chr1	248685052	248685052	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcattttgtacttctaCgtcttgagccttctggggaa	7	15	9	10	1	4	1	1	1	3	0	4	2	4	2	2	2	3	1	2	2	3	7			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr1:248685052C>T	uc001ien.1	+	0	105	c.105C>T	c.(103-105)taC>taT	p.Y35Y		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTACTTCTACGTCTTGAGCC	0.463													T	248685052	C	T	248685052	2	4	89	1	0	0	0	0	0	0	0	1	11076	547	19	1		1	OR2G6	1	248685052	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	1220932	248685052	565569	7	5790											
DPP10	57628	broad.mit.edu	37	chr2	116593818	116593818	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggttgcacctatcacagActtgaaattgtatggtgagt	10	13	11	7	1	1	3	1	2	0	1	1	3	1	3	1	2	1	3	1	2	3	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:116593818A>T	uc002tle.3	+	21	2069	c.2048A>T	c.(2047-2049)gAc>gTc	p.D683V	DPP10_uc002tla.2_Missense_Mutation_p.D679V|DPP10_uc002tlb.2_Missense_Mutation_p.D629V|DPP10_uc002tlc.2_Missense_Mutation_p.D675V|DPP10_uc002tlf.2_Missense_Mutation_p.D672V	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	679					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						CCTATCACAGACTTGAAATTG	0.368													T	116593818	A	T	116593818	3	4	89	1	0	0	0	0	1	0	0	0	4766	275	10	5	2293	5	DPP10	2	116593818	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08		116593818	126605555	8	5791											
WDR33	55339	broad.mit.edu	37	chr2	128484320	128484320	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actaaccctttggttggatgCcagtctacacatttcacatc	10	13	6	12	0	2	0	1	0	1	0	3	1	2	1	2	2	3	1	2	2	2	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:128484320C>T	uc002tpg.2	-	7	955	c.756G>A	c.(754-756)tgG>tgA	p.W252*		NM_018383	NP_060853	Q9C0J8	WDR33_HUMAN	Homo sapiens WD repeat domain 33 (WDR33), transcript variant 1, mRNA.	252					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)		TGGTTGGATGCCAGTCTACAC	0.408													T	128484320	C	T	128484320	4	4	89	1	0	0	0	0	0	1	0	0	17389	740	26	2	3314	2	WDR33	2	128484320	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	11890502	128484320	114715053	9	5792											
HOXD10	3236	broad.mit.edu	37	chr2	176981726	176981726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgtggactgctcccGtctctggccaaaagagaagt	11	8	10	12	1	1	1	0	0	1	1	3	3	2	2	3	2	2	1	3	2	4	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:176981726G>A	uc002ukj.3	+	0	235	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_002148	NP_002139	P28358	HXD10_HUMAN	Homo sapiens homeobox D10 (HOXD10), mRNA.	55						nucleus	sequence-specific DNA binding	p.P55P(4)|p.P55T(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GACTGCTCCCGTCTCTGGCCA	0.488													A	176981726	G	A	176981726	2	1	89	1	0	0	0	0	0	0	0	1	7374	1132	40	1		1	HOXD10	2	176981726	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	48497406	176981726	66217647	10	5793											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841462	208841462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggtagtcacagattggcGtttgttcttcctgagttcat	6	16	11	8	1	3	2	2	1	1	1	4	2	4	2	1	2	0	5	1	2	1	6			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:208841462G>A	uc002vcl.2	-	2	1949	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	PLEKHM3_uc002vcm.2_Missense_Mutation_p.R487C	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	487					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACAGATTGGCGTTTGTTCTTC	0.478													A	208841462	G	A	208841462	3	1	89	1	0	0	0	0	1	0	0	0	12159	1145	40	1	850	1	PLEKHM3	2	208841462	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	31859736	208841462	34357911	11	5794											
CCDC108	255101	broad.mit.edu	37	chr2	219874081	219874081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttcctaccttgcataccagGtctgcactgtagaagctggc	8	11	10	12	0	1	1	0	0	1	1	2	1	2	1	3	2	5	5	3	2	4	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:219874081G>C	uc002vjl.1	-	27	4638	c.4554C>G	c.(4552-4554)gaC>gaG	p.D1518E		NM_194302	NP_919278	Q6ZU64	CC108_HUMAN	Homo sapiens coiled-coil domain containing 108 (CCDC108), transcript variant 1, mRNA.	1518						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCATACCAGGTCTGCACTGT	0.587													C	219874081	G	C	219874081	3	2	89	1	0	0	0	0	1	0	0	0	2769	1252	44	4	1255	4	CCDC108	2	219874081	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	11032619	219874081	23325292	12	5795											
RBM44	375316	broad.mit.edu	37	chr2	238738022	238738022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgggaatagaattagttcGaataatttagagaaaagcac	19	10	9	3	1	0	2	0	0	0	2	1	5	0	3	0	1	1	2	0	1	10	6			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr2:238738022G>A	uc002vxi.4	+	12	2898	c.2766G>A	c.(2764-2766)tcG>tcA	p.S922S		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	921							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		GAATTAGTTCGAATAATTTAG	0.388													A	238738022	G	A	238738022	2	1	89	1	0	0	0	0	0	0	0	1	13226	1045	37	1		1	RBM44	2	238738022	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	18863941	238738022	4461351	13	5796											
CAND2	23066	broad.mit.edu	37	chr3	12858462	12858462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacactggcagccctggaCgccctggcccagagccaggg	7	3	14	17	1	0	1	0	0	0	1	0	2	0	2	5	4	2	1	5	4	0	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:12858462C>T	uc003bxk.2	+	9	2080	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_uc003bxj.2_Silent_p.D584D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	677					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662													T	12858462	C	T	12858462	2	4	89	1	0	0	0	0	0	0	0	1	2642	535	19	1		1	CAND2	3	12858462	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08		12858462	185163968	14	5797											
ZIC4	84107	broad.mit.edu	37	chr3	147113783	147113783	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttggctttgaagggctttcCctggcgcggacactcctccc	4	12	11	14	2	0	1	0	1	0	0	3	2	3	2	3	4	0	2	3	4	1	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:147113783C>G	uc011bno.2	-	2	880	c.694G>C	c.(694-696)Gga>Cga	p.G232R	ZIC4_uc003ewc.2_Missense_Mutation_p.G112R|ZIC4_uc021xff.1_Missense_Mutation_p.G220R|ZIC4_uc003ewd.2_Missense_Mutation_p.G182R|ZIC4_uc021xfg.1_Intron	NM_001168378	NP_115529	Q8N9L1	ZIC4_HUMAN	Homo sapiens Zic family member 4 (ZIC4), transcript variant 1, mRNA.	182						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						AAGGGCTTTCCCTGGCGCGGA	0.597													G	147113783	C	G	147113783	3	3	89	1	0	0	0	0	1	0	0	0	17782	632	22	4	472	4	ZIC4	3	147113783	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	134255321	147113783	50908647	15	5798											
MECOM	2122	broad.mit.edu	37	chr3	168834185	168834185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccggaaggaaacagaccaGggaagctaaaagaaaatcca	20	2	11	8	1	0	2	0	0	0	2	1	5	1	5	3	3	3	1	3	3	7	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:168834185G>A	uc011bpj.1	-	7	1878	c.1475C>T	c.(1474-1476)cCt>cTt	p.P492L	MECOM_uc010hwk.1_Missense_Mutation_p.P327L|MECOM_uc003ffj.3_Missense_Mutation_p.P369L|MECOM_uc003ffi.3_Missense_Mutation_p.P304L|MECOM_uc011bpi.1_Missense_Mutation_p.P305L|MECOM_uc003ffn.3_Missense_Mutation_p.P304L|MECOM_uc003ffk.2_Missense_Mutation_p.P304L|MECOM_uc003ffl.2_Missense_Mutation_p.P464L|MECOM_uc011bpk.1_Missense_Mutation_p.P304L|MECOM_uc010hwn.2_Missense_Mutation_p.P492L	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AAACAGACCAGGGAAGCTAAA	0.473													A	168834185	G	A	168834185	3	1	89	1	0	0	0	0	1	0	0	0	9497	1000	35	2	2284	2	MECOM	3	168834185	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	21720402	168834185	29188245	16	5799											
NAALADL2	254827	broad.mit.edu	37	chr3	174951839	174951839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaattactctgtgctgcttGatctgccaggcccttctccc	6	14	7	14	0	3	1	0	1	3	0	4	1	3	1	3	1	4	2	3	1	3	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr3:174951839G>A	uc003fit.3	+	2	751	c.664G>A	c.(664-666)Gat>Aat	p.D222N	NAALADL2_uc003fiu.1_Missense_Mutation_p.D215N|NAALADL2_uc010hwy.1_Missense_Mutation_p.D44N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	222					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGTGCTGCTTGATCTGCCAGG	0.443													A	174951839	G	A	174951839	3	1	89	1	0	0	0	0	1	0	0	0	10206	1290	45	2	674	2	NAALADL2	3	174951839	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	6117654	174951839	23070591	17	5800											
GNRHR	2798	broad.mit.edu	37	chr4	68606377	68606377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgaagtggcaaatgcaaCcgtcatttttagagtcttca	14	12	8	7	1	3	2	2	1	1	1	3	2	3	2	1	1	2	2	1	1	5	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr4:68606377C>T	uc003hdn.3	-	2	2559	c.808G>A	c.(808-810)Gtt>Att	p.V270I	LOC550112_uc003hdl.4_Intron|GNRHR_uc003hdm.3_Missense_Mutation_p.G227D|BC045560_uc003hdo.1_5'Flank	NM_000406	NP_000397	P30968	GNRHR_HUMAN	Homo sapiens gonadotropin-releasing hormone receptor (GNRHR), transcript variant 1, mRNA.	270					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity	p.T269T(1)		endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	GCAAATGCAACCGTCATTTTT	0.408													T	68606377	C	T	68606377	3	4	89	1	0	0	0	0	1	0	0	0	6605	507	18	2	182	2	GNRHR	4	68606377	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		68606377	122547899	18	5801											
PITX2	5308	broad.mit.edu	37	chr4	111539460	111539460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtaaggacaggcaggcgTcggcaccgcggaattcagcg	9	4	16	12	7	1	0	1	0	0	0	2	2	1	2	1	5	1	3	1	5	2	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr4:111539460T>C	uc003iaf.3	-	6	2598	c.775A>G	c.(775-777)Acg>Gcg	p.T259A	PITX2_uc003iac.3_Missense_Mutation_p.T266A|PITX2_uc003iad.3_Missense_Mutation_p.T259A|PITX2_uc021xqr.1_Missense_Mutation_p.T259A|PITX2_uc003iae.3_Missense_Mutation_p.T213A|PITX2_uc021xqs.1_Missense_Mutation_p.T213A	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	259					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CAGGCAGGCGTCGGCACCGCG	0.592													C	111539460	T	C	111539460	3	2	89	1	0	0	0	0	1	0	0	0	12032	1667	58	3	182	3	PITX2	4	111539460	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	42933083	111539460	79614816	19	5802											
PCDHGC5	56104	broad.mit.edu	37	chr5	140730012	140730012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccgggagttgccaactcGaaaactgcgggttagtgcag	9	9	14	9	3	0	0	0	0	0	0	2	2	1	1	2	2	5	3	2	2	4	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:140730012G>A	uc003ljo.2	+	0	185	c.185G>A	c.(184-186)cGa>cAa	p.R62Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Missense_Mutation_p.R62Q	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	62	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGCCAACTCGAAAACTGCGG	0.522											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140730012	G	A	140730012	3	1	89	1	0	0	0	0	1	0	0	0	11647	1058	37	1		1	PCDHGC5	5	140730012	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		140730012	40185248	20	5803											
MFAP3	4238	broad.mit.edu	37	chr5	153432941	153432941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaactgtcgagcctttgttGaggagatgtttgaggctgtg	8	14	14	5	1	0	3	0	2	0	1	1	5	0	3	1	2	2	3	1	2	2	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:153432941G>A	uc010jib.2	+	2	976	c.757G>A	c.(757-759)Gag>Aag	p.E253K	MFAP3_uc011ddb.1_Missense_Mutation_p.E107K|MFAP3_uc003lvf.2_Missense_Mutation_p.E253K|MFAP3_uc021ygf.1_Missense_Mutation_p.E107K	NM_005927	NP_001128509	P55082	MFAP3_HUMAN	Homo sapiens microfibrillar-associated protein 3 (MFAP3), transcript variant 1, mRNA.	253						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		AGCCTTTGTTGAGGAGATGTT	0.453													A	153432941	G	A	153432941	3	1	89	1	0	0	0	0	1	0	0	0	9590	1291	45	2	763	2	MFAP3	5	153432941	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	12702929	153432941	27482319	21	5804											
EBF1	1879	broad.mit.edu	37	chr5	158140123	158140123	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacactgtacagggcctcGgcaatgtcggccgctctctt	7	9	12	13	3	1	0	0	0	1	0	4	1	1	1	2	4	2	3	2	4	3	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:158140123G>A	uc010jip.3	-	12	1526	c.1224C>T	c.(1222-1224)gcC>gcT	p.A408A	EBF1_uc011ddw.2_Silent_p.A276A|EBF1_uc011ddx.2_Silent_p.A409A|EBF1_uc003lxl.4_Silent_p.A377A	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	408					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGGGCCTCGGCAATGTCGG	0.527			T	HMGA2	lipoma								A	158140123	G	A	158140123	2	1	89	1	0	0	0	0	0	0	0	1	4919	1103	39	1		1	EBF1	5	158140123	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	4707182	158140123	22775137	22	5805											
BTNL3	10917	broad.mit.edu	37	chr5	180432547	180432547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatgtgggagtgtgtcGggatgacgtagacaggggga	8	9	21	3	2	0	2	0	1	0	1	1	5	0	5	0	5	0	2	0	5	2	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr5:180432547G>A	uc003mmr.3	+	7	1260	c.1076G>A	c.(1075-1077)cGg>cAg	p.R359Q	BTNL3_uc010jlp.3_Missense_Mutation_p.R144Q	NM_197975	NP_932079	Q6UXE8	BTNL3_HUMAN	Homo sapiens butyrophilin-like 3 (BTNL3), mRNA.	359	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			GGAGTGTGTCGGGATGACGTA	0.478													A	180432547	G	A	180432547	3	1	89	1	0	0	0	0	1	0	0	0	1576	1116	39	1	1106	1	BTNL3	5	180432547	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	22292424	180432547	482713	23	5806											
ROS1	6098	broad.mit.edu	37	chr6	117679033	117679033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgaatcttcacctctctgGgatatttcaccttgtgttca	7	17	7	10	0	5	1	3	1	2	0	6	2	5	2	2	1	0	1	2	1	2	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr6:117679033G>T	uc003pxp.1	-	23	3987	c.3788C>A	c.(3787-3789)cCc>cAc	p.P1263H	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1263					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.P1263F(2)|p.P1263P(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CACCTCTCTGGGATATTTCAC	0.318			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								T	117679033	G	T	117679033	3	4	89	1	0	0	0	0	1	0	0	0	13622	1232	43	4	3335	4	ROS1	6	117679033	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		117679033	53436034	24	5807											
CRHR2	1395	broad.mit.edu	37	chr7	30693212	30693212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcctcacggctgagCgcacctgtggggaaggcaga	8	7	13	13	2	2	2	1	1	1	1	3	3	3	3	3	4	1	3	3	4	1	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:30693212C>T	uc003tbn.3	-	11	1345	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	CRHR2_uc010kvw.2_3'UTR|CRHR2_uc010kvx.2_Missense_Mutation_p.R366H|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.R203H|CRHR2_uc003tbo.3_Missense_Mutation_p.R353H|CRHR2_uc003tbp.3_Missense_Mutation_p.R394H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	367					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.R367H(2)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCTGAGCGCACCTGTGG	0.642													T	30693212	C	T	30693212	3	4	89	1	0	0	0	0	1	0	0	0	3903	768	27	1	139	1	CRHR2	7	30693212	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		30693212	128445451	25	5808											
DDX56	54606	broad.mit.edu	37	chr7	44611162	44611162	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttccaagaacaggcgtagCcggtaactccgttctagagt	10	10	11	10	3	1	2	0	0	1	2	3	2	3	2	3	2	3	4	3	2	5	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:44611162C>A	uc003tlg.3	-	5	1462	c.819G>T	c.(817-819)cgG>cgT	p.R273R	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Silent_p.R273R|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	273	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						ACAGGCGTAGCCGGTAACTCC	0.522													A	44611162	C	A	44611162	2	1	89	1	0	0	0	0	0	0	0	1	4408	726	26	4		4	DDX56	7	44611162	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	13917950	44611162	114527501	26	5809											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212399	74212399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttttcagctcgtgaagcttCtcgtcacgcattctttccat	6	17	6	12	3	4	1	2	1	2	0	7	1	5	1	1	0	2	3	1	0	1	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:74212399C>T	uc003ubd.1	-	15	1636	c.1452G>A	c.(1450-1452)gaG>gaA	p.E484E	GTF2IRD2_uc010lbt.1_Silent_p.E31E	NM_173537	NP_775808	Q86UP8	GTD2A_HUMAN	Homo sapiens GTF2I repeat domain containing 2 (GTF2IRD2), mRNA.	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						cgtgaagcttctcgtcacgca	0.443													T	74212399	C	T	74212399	2	4	89	1	0	0	0	0	0	0	0	1	6924	912	32	2		2	GTF2IRD2	7	74212399	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	29601237	74212399	84926264	27	5810											
CCL24	6369	broad.mit.edu	37	chr7	75442664	75442664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcctgctggacagctGgtagctgaccactcggttct	5	12	12	12	1	1	1	0	1	1	0	3	2	2	2	2	3	4	6	2	3	1	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:75442664G>C	uc011kga.2	-	1	210	c.151C>G	c.(151-153)Cag>Gag	p.Q51E		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	51					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						CTGGACAGCTGGTAGCTGACC	0.562													C	75442664	G	C	75442664	3	2	89	1	0	0	0	0	1	0	0	0	2924	1357	47	4	214	4	CCL24	7	75442664	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	1230265	75442664	83695999	28	5811											
CDHR3	222256	broad.mit.edu	37	chr7	105660961	105660961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taccgaccttgattccagccCcagatctttccgttattcca	8	13	5	15	2	1	2	0	1	1	1	4	3	4	2	7	0	2	1	7	0	2	6			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:105660961C>T	uc003vdl.4	+	12	1904	c.1796C>T	c.(1795-1797)cCc>cTc	p.P599L	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Missense_Mutation_p.P586L|CDHR3_uc011klt.2_Missense_Mutation_p.P511L|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GATTCCAGCCCCAGATCTTTC	0.488													T	105660961	C	T	105660961	3	4	89	1	0	0	0	0	1	0	0	0	3150	623	22	2	1846	2	CDHR3	7	105660961	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	30218297	105660961	53477702	29	5812											
SND1	27044	broad.mit.edu	37	chr7	127334947	127334948	+	Frame_Shift_Ins	INS	-	-	A																															ggaaggaagtctgtttcacgINSatagaaaacaagactcccca																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:127334947_127334948insA	uc003vmi.3	+	2	520_521	c.294_295insA	c.(292-297)acgatafs	p.T98fs		NM_014390	NP_055205	Q7KZF4	SND1_HUMAN	Homo sapiens staphylococcal nuclease and tudor domain containing 1 (SND1), mRNA.	98	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCTGTTTCACGATAGAAAACAA	0.465													A	127334948	-	A	127334947	7	5	89	1	0	1	1	0	0	0	0	0	14938	1045	37	0	304	0	SND1	7	127334947	Frame_Shift_Ins	INS	-	TCGA-06-5412-01A-01D-1696-08	21673986	127334947	31803716	30	5813											
KEL	3792	broad.mit.edu	37	chr7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcctgtctcctccaCgcacttcatccatcgtgggc	6	10	9	16	3	2	0	1	0	1	0	6	1	4	0	4	1	2	1	4	1	1	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr7:142643377C>T	uc003wcb.3	-	10	1441	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	411					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCTCCTCCACGCACTTCATC	0.567													T	142643377	C	T	142643377	3	4	89	1	0	0	0	0	1	0	0	0	8200	536	19	1	1003	1	KEL	7	142643377	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	15308430	142643377	16495286	31	5814											
SOX7	83595	broad.mit.edu	37	chr8	10583649	10583649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggccagggagcccagggGgtggctacagtggagagggc	9	3	21	8	0	0	1	0	0	0	1	0	3	0	2	2	7	2	1	2	7	2	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:10583649G>A	uc011kwz.2	-	5	955	c.922C>T	c.(922-924)Ccc>Tcc	p.P308S	SOX7_uc003wtf.3_Missense_Mutation_p.P256S	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	256	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GAGCCCAGGGGGTGGCTACAG	0.692													A	10583649	G	A	10583649	3	1	89	1	0	0	0	0	1	0	0	0	15050	1232	43	2	404	2	SOX7	8	10583649	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		10583649	135780373	32	5815											
HGSNAT	138050	broad.mit.edu	37	chr8	43048945	43048945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgaccccgagggcatcctgGgcaccatcaactccatcgtg	9	7	10	15	2	1	1	1	1	0	0	4	2	3	1	5	2	1	2	5	2	1	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:43048945G>C	uc003xpx.4	+	13	1471	c.1423G>C	c.(1423-1425)Ggc>Cgc	p.G475R		NM_152419	NP_689632	Q68CP4	HGNAT_HUMAN	Homo sapiens heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT), mRNA.	503					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GGGCATCCTGGGCACCATCAA	0.428													C	43048945	G	C	43048945	3	2	89	1	0	0	0	0	1	0	0	0	7143	1232	43	4	1477	4	HGSNAT	8	43048945	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	32465296	43048945	103315077	33	5816											
ENPP2	5168	broad.mit.edu	37	chr8	120628516	120628516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacttaccggttgacctcCccaccatctatgattaaatt	13	12	4	12	1	1	2	0	2	1	0	2	2	2	2	5	1	2	1	5	1	6	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:120628516C>T	uc003yos.2	-	7	852	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ENPP2_uc010mdd.2_Missense_Mutation_p.G256R|ENPP2_uc003yot.2_Missense_Mutation_p.G256R	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	256					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GGTTGACCTCCCCACCATCTA	0.378													T	120628516	C	T	120628516	3	4	89	1	0	0	0	0	1	0	0	0	5171	632	22	2	2136	2	ENPP2	8	120628516	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	77579571	120628516	25735506	34	5817											
HAS2	3037	broad.mit.edu	37	chr8	122626452	122626452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgacccaatagcatgcaTagagcaacgttccaacaatt	15	8	7	11	1	0	2	0	1	0	1	1	2	1	2	2	0	5	5	2	0	6	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:122626452T>C	uc003yph.2	-	3	2094	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	519						integral to plasma membrane	hyaluronan synthase activity	p.L518F(1)	HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATAGCATGCATAGAGCAACGT	0.418													C	122626452	T	C	122626452	3	2	89	1	0	0	0	0	1	0	0	0	7017	1406	49	3	106	3	HAS2	8	122626452	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	1997936	122626452	23737570	35	5818											
FAM49B	51571	broad.mit.edu	37	chr8	130866513	130866513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaaagcattaacttaccGgtacattgttaatcctcata	14	14	4	9	1	2	0	2	0	0	0	3	0	3	0	2	1	4	3	2	1	6	7			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr8:130866513G>A	uc003yss.3	-	10	1065	c.516_splice	c.e10+1	p.P172_splice	FAM49B_uc003yst.3_Splice_Site_p.P172_splice|FAM49B_uc003ysu.3_Splice_Site_p.P172_splice|FAM49B_uc003ysw.3_Splice_Site_p.P172_splice|FAM49B_uc003ysx.3_Splice_Site_p.P172_splice|FAM49B_uc003ysy.1_Splice_Site_p.P172_splice	NM_016623	NP_057707	Q9NUQ9	FA49B_HUMAN	Homo sapiens family with sequence similarity 49, member B (FAM49B), mRNA.	172										kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			TTAACTTACCGGTACATTGTT	0.348													A	130866513	G	A	130866513	3	1	89	1	0	0	0	0	1	0	0	0	5627	1130	39	1	483	1	FAM49B	8	130866513	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	8240061	130866513	15497509	36	5819											
GSN	2934	broad.mit.edu	37	chr9	124062285	124062285	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgcccgaggcgcgggTgagtgcccggggggccccgg	2	3	23	13	6	0	1	0	1	0	0	0	2	0	1	4	7	2	0	4	7	0	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:124062285T>G	uc004blf.1	+	1	205	c.144_splice	c.e1+2	p.R48_splice	GSN_uc004bld.1_Intron|GSN_uc010mvr.1_Intron|GSN_uc010mvq.1_Intron|GSN_uc010mvu.1_Intron|GSN_uc010mvt.1_Intron|GSN_uc010mvs.1_Intron|GSN_uc004ble.1_Intron|GSN_uc010mvv.1_Intron|GSN_uc011lyh.1_Intron|GSN_uc011lyi.1_Intron|GSN_uc011lyj.1_5'Flank	NM_000177	NP_000168	P06396	GELS_HUMAN	Homo sapiens gelsolin (GSN), transcript variant 1, mRNA.	48					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						gaggcgcgggtgagtgcccgg	0.697													G	124062285	T	G	124062285	5	3	89	1	0	0	0	0	0	0	1	0	6880	1710	59	5	148	5	GSN	9	124062285	Splice_Site	SNP	T	TCGA-06-5412-01A-01D-1696-08		124062285	17151146	37	5820											
ABL1	25	broad.mit.edu	37	chr9	133760582	133760582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccaaagccacagtccGccaagccgtcggggaccccc	9	3	9	20	3	0	0	0	0	0	0	3	1	2	1	8	2	2	0	8	2	2	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:133760582G>A	uc004bzw.3	+	10	2908	c.2905G>A	c.(2905-2907)Gcc>Acc	p.A969T	ABL1_uc004bzv.3_Missense_Mutation_p.A988T	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	969	F-actin-binding.|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GCCACAGTCCGCCAAGCCGTC	0.667			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								A	133760582	G	A	133760582	3	1	89	1	0	0	0	0	1	0	0	0	92	1087	38	1	3087	1	ABL1	9	133760582	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	9698297	133760582	7452849	38	5821											
RXRA	6256	broad.mit.edu	37	chr9	137300840	137300840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcttcttcaagcggaCggtgcgcaaggacctgacct	9	7	13	12	3	2	1	1	1	1	0	2	3	2	3	2	4	2	2	2	4	3	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr9:137300840C>T	uc004cfb.2	+	3	647	c.485C>T	c.(484-486)aCg>aTg	p.T162M	RXRA_uc004cfc.1_Missense_Mutation_p.T65M	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	162					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	TTCAAGCGGACGGTGCGCAAG	0.647													T	137300840	C	T	137300840	3	4	89	1	0	0	0	0	1	0	0	0	13854	536	19	1	499	1	RXRA	9	137300840	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	3540258	137300840	3912591	39	5822											
PTEN	5728	broad.mit.edu	37	chr10	89720831	89720831	+	Frame_Shift_Del	DEL	G	G	-																															caaaaaatgatcttgacaaaGcaaataaagacaaagccaac																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr10:89720831delG	uc001kfb.3	+	7	2014	c.982delG	c.(982-984)gcafs	p.A328fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	328	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.A328fs*1(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.A328fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTGACAAAGCAAATAAAGA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720831	G	-	89720831	7	5	89	1	0	1	0	1	0	0	0	0	12823	971	34	0	1012	0	PTEN	10	89720831	Frame_Shift_Del	DEL	G	TCGA-06-5412-01A-01D-1696-08		89720831	45813916	40	5823											
LRRC32	2615	broad.mit.edu	37	chr11	76371805	76371805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtggccctgtggggagccGgatgaggttgttggacaagt	6	9	20	6	1	0	1	0	1	0	0	0	4	0	4	2	7	1	2	2	7	1	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr11:76371805G>A	uc001oxq.4	-	2	1075	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W	LRRC32_uc001oxr.4_Missense_Mutation_p.R278W|LRRC32_uc010rsf.2_Missense_Mutation_p.R278W	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	278						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GTGGGGAGCCGGATGAGGTTG	0.652													A	76371805	G	A	76371805	3	1	89	1	0	0	0	0	1	0	0	0	9057	1115	39	1	1160	1	LRRC32	11	76371805	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		76371805	58634711	41	5824											
GRAMD1B	57476	broad.mit.edu	37	chr11	123485469	123485469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggttccacacagacgcgGcatatcccggaggacacccc	11	4	10	16	3	0	1	0	0	0	1	2	3	2	3	4	4	0	2	4	4	1	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr11:123485469G>A	uc001pyw.2	+	16	2165	c.1836G>A	c.(1834-1836)cgG>cgA	p.R612R	GRAMD1B_uc001pyx.2_Silent_p.R605R|GRAMD1B_uc010rzw.2_Silent_p.R565R|GRAMD1B_uc010rzx.1_Silent_p.R565R|GRAMD1B_uc001pyy.2_Silent_p.R296R	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	605						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CACAGACGCGGCATATCCCGG	0.537													A	123485469	G	A	123485469	2	1	89	1	0	0	0	0	0	0	0	1	6803	1190	42	2		2	GRAMD1B	11	123485469	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	47113664	123485469	11521047	42	5825											
DDX11	1663	broad.mit.edu	37	chr12	31236988	31236988	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagggacctggtggaccGactaaaggtgagacctgggg	11	5	18	7	1	0	2	0	1	0	2	0	7	0	4	3	6	0	0	3	6	2	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr12:31236988G>T	uc001rjt.1	+	2	637	c.386G>T	c.(385-387)cGa>cTa	p.R129L	DDX11_uc010sjw.1_Missense_Mutation_p.R129L|DDX11_uc010sjx.1_Non-coding_Transcript|DDX11_uc001rjr.1_Missense_Mutation_p.R129L|DDX11_uc001rjs.1_Missense_Mutation_p.R129L|DDX11_uc001rju.1_5'UTR|DDX11_uc001rjv.1_Missense_Mutation_p.R129L|DDX11_uc001rjw.1_Missense_Mutation_p.R103L	NM_152438	NP_689651	Q96FC9	DDX11_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 (DDX11), transcript variant 3, mRNA.	129	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CTGGTGGACCGACTAAAGGTG	0.587										Multiple Myeloma(12;0.14)			T	31236988	G	T	31236988	3	4	89	1	0	0	0	0	1	0	0	0	4377	1058	37	4	392	4	DDX11	12	31236988	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		31236988	102614907	43	5826											
PTPN11	5781	broad.mit.edu	37	chr12	112926909	112926909	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtccagacagaagcacAgtaccgatttatctatatgg	13	10	10	8	1	1	2	0	0	1	2	2	4	2	2	2	2	2	2	2	2	5	5	rs121918470		TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr12:112926909A>T	uc001ttx.3	+	12	1909	c.1529A>T	c.(1528-1530)cAg>cTg	p.Q510L		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	514	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).|Q -> R (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.Q510K(2)|p.Q510H(1)|p.Q510L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ACAGAAGCACAGTACCGATTT	0.498			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				T	112926909	A	T	112926909	3	4	89	1	0	0	0	0	1	0	0	0	12866	188	7	5	1579	5	PTPN11	12	112926909	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08	81689921	112926909	20924986	44	5827											
DIAPH3	81624	broad.mit.edu	37	chr13	60686198	60686198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacagtggctttggaaaGttctccatcatctctaaagg	10	13	9	9	0	4	1	1	1	3	0	6	2	4	2	1	3	0	2	1	3	3	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr13:60686198G>T	uc001vht.3	-	2	555	c.336C>A	c.(334-336)aaC>aaA	p.N112K	DIAPH3_uc001vhw.1_Missense_Mutation_p.N101K|DIAPH3_uc010aed.1_Missense_Mutation_p.N101K|DIAPH3_uc010aee.1_Intron	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	112					actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		GCTTTGGAAAGTTCTCCATCA	0.403													T	60686198	G	T	60686198	3	4	89	1	0	0	0	0	1	0	0	0	4559	1020	36	4	3369	4	DIAPH3	13	60686198	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		60686198	54483680	45	5828											
MAP3K9	4293	broad.mit.edu	37	chr14	71205013	71205013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgtccctggcccccacGtccgtcccttcttctttggg	3	11	9	18	3	2	0	0	0	2	0	5	0	5	0	5	2	1	0	5	2	1	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:71205013G>A	uc001xmm.3	-	7	1793	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	MAP3K9_uc010ttk.2_Missense_Mutation_p.T335M|MAP3K9_uc001xmk.3_Missense_Mutation_p.T340M|MAP3K9_uc001xml.3_Missense_Mutation_p.T598M	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	598					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGCCCCCACGTCCGTCCCTT	0.557													A	71205013	G	A	71205013	3	1	89	1	0	0	0	0	1	0	0	0	9332	1145	40	1	1587	1	MAP3K9	14	71205013	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		71205013	36144527	46	5829											
AHSA1	10598	broad.mit.edu	37	chr14	77930956	77930956	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagttcacccagggcaTgatcttacctacaatgaatg	12	11	8	10	0	3	3	2	2	1	1	3	3	3	3	2	1	2	2	2	1	4	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:77930956T>A	uc001xtw.3	+	4	648	c.488T>A	c.(487-489)aTg>aAg	p.M163K	AHSA1_uc010tvk.1_Missense_Mutation_p.M163K	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	163					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCCAGGGCATGATCTTACCT	0.468													A	77930956	T	A	77930956	3	1	89	1	0	0	0	0	1	0	0	0	418	1464	51	5	506	5	AHSA1	14	77930956	Missense_Mutation	SNP	T	TCGA-06-5412-01A-01D-1696-08	6725943	77930956	29418584	47	5830			1	19		2	2	42	N	T_G	9.270573e-05
AHSA1	10598	broad.mit.edu	37	chr14	77930997	77930997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagtcagtagacccagtgGggcagccagcactgaaaact	13	5	13	10	0	1	3	1	1	0	2	1	4	1	3	2	2	3	3	2	2	3	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:77930997G>A	uc001xtw.3	+	4	689	c.529G>A	c.(529-531)Ggg>Agg	p.G177R	AHSA1_uc010tvk.1_Missense_Mutation_p.G177R	NM_012111	NP_036243	O95433	AHSA1_HUMAN	Homo sapiens AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast) (AHSA1), mRNA.	177					protein folding|response to stress	cytosol|endoplasmic reticulum	ATPase activator activity|chaperone binding			endometrium(1)|kidney(3)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)	8			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		AGACCCAGTGGGGCAGCCAGC	0.473													A	77930997	G	A	77930997	3	1	89	1	0	0	0	0	1	0	0	0	418	1232	43	2	547	2	AHSA1	14	77930997	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	41	77930997	29418543	48	5831			1	19		2	2	42	N	T_G	9.270573e-05
RPS6KA5	9252	broad.mit.edu	37	chr14	91372576	91372576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatctttcatcaaaagacGctgaattaggtctttcgcta	11	13	9	8	2	4	2	2	1	2	1	5	3	4	3	0	2	0	2	0	2	5	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr14:91372576G>A	uc001xys.2	-	7	1089	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	RPS6KA5_uc010twi.1_Missense_Mutation_p.R213C|RPS6KA5_uc001xyt.3_Missense_Mutation_p.R292C|RPS6KA5_uc010att.1_Non-coding_Transcript	NM_004755	NP_004746	O75582	KS6A5_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 5 (RPS6KA5), transcript variant 1, mRNA.	292	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		ATCAAAAGACGCTGAATTAGG	0.383													A	91372576	G	A	91372576	3	1	89	1	0	0	0	0	1	0	0	0	13745	1087	38	1	1580	1	RPS6KA5	14	91372576	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	13441579	91372576	15976964	49	5832											
SENP8	123228	broad.mit.edu	37	chr15	72432087	72432090	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															gcgtttgagtactttgccaaCagtcagtttcatgactgctc																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr15:72432087_72432090delCAGT	uc021spq.1	+	1	456_459	c.123_126delCAGT	c.(121-126)aacagtfs	p.N41fs	SENP8_uc021spr.1_Frame_Shift_Del_p.N41fs|SENP8_uc021sps.1_Frame_Shift_Del_p.N41fs|SENP8_uc021spt.1_Frame_Shift_Del_p.N41fs|SENP8_uc002atp.3_Frame_Shift_Del_p.N41fs|SENP8_uc021spu.1_Frame_Shift_Del_p.N41fs	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	41	Protease.				proteolysis		cysteine-type peptidase activity|protein binding			breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						ACTTTGCCAACAGTCAGTTTCATG	0.475													-	72432090	CAGT	-	72432087	7	5	89	1	0	1	0	1	0	0	0	0	14145	477	17	0	125	0	SENP8	15	72432087	Frame_Shift_Del	DEL	CAGT	TCGA-06-5412-01A-01D-1696-08		72432087	30099305	50	5833											
RHBDL1	9028	broad.mit.edu	37	chr16	726867	726867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcagctgcccaccccccGtgttcatggcctcggtcact	5	8	9	19	3	2	0	2	0	0	0	3	0	2	0	6	2	2	3	6	2	0	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:726867G>A	uc002cis.1	+	1	619	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	RHBDL1_uc002cir.1_Missense_Mutation_p.V133M|RHBDL1_uc010uun.1_Missense_Mutation_p.V133M	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	198					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				CCCACCCCCCGTGTTCATGGC	0.667													A	726867	G	A	726867	3	1	89	1	0	0	0	0	1	0	0	0	13410	1145	40	1	598	1	RHBDL1	16	726867	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		726867	89627886	51	5834											
NOD2	64127	broad.mit.edu	37	chr16	50733737	50733737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgagacctgcagagtcacCggccagccattgtcaggagg	9	5	13	14	2	2	2	2	0	0	2	2	4	2	3	5	3	2	1	5	3	0	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:50733737C>G	uc002egm.1	+	1	517	c.412C>G	c.(412-414)Cgg>Ggg	p.R138G	NOD2_uc010cbj.1_Missense_Mutation_p.R111G|NOD2_uc021tia.1_5'UTR|NOD2_uc010cbk.1_Missense_Mutation_p.R111G|NOD2_uc002egl.1_5'UTR	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	138	CARD 2.				activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				GCAGAGTCACCGGCCAGCCAT	0.632													G	50733737	C	G	50733737	3	3	89	1	0	0	0	0	1	0	0	0	10593	643	23	4	418	4	NOD2	16	50733737	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	50006870	50733737	39621016	52	5835											
GPR56	9289	broad.mit.edu	37	chr16	57688009	57688009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctccagcccacagcCggcctccaggacctgcacat	9	5	10	17	1	0	0	0	0	0	0	2	2	2	2	6	3	4	2	6	3	1	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr16:57688009C>T	uc002emb.2	+	5	1024	c.732C>T	c.(730-732)gcC>gcT	p.A244A	GPR56_uc002elz.1_Silent_p.A74A|GPR56_uc002ema.1_Silent_p.A69A|GPR56_uc002emc.2_Silent_p.A244A|GPR56_uc002emf.2_Silent_p.A244A|GPR56_uc010vhs.1_Silent_p.A244A|GPR56_uc002emd.2_Silent_p.A244A|GPR56_uc002eme.2_Silent_p.A244A|GPR56_uc010vht.1_Silent_p.A249A|GPR56_uc002emg.3_Silent_p.A244A|GPR56_uc010vhu.1_Silent_p.A69A	NM_005682	NP_005673	Q9Y653	GPR56_HUMAN	Homo sapiens G protein-coupled receptor 56 (GPR56), transcript variant 1, mRNA.	244					brain development|cell adhesion|cell-cell signaling|neuropeptide signaling pathway	integral to plasma membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	15						AGCCCACAGCCGGCCTCCAGG	0.662													T	57688009	C	T	57688009	2	4	89	1	0	0	0	0	0	0	0	1	6754	639	23	1		1	GPR56	16	57688009	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	6954272	57688009	32666744	53	5836											
NF1	4763	broad.mit.edu	37	chr17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aatcgctttaaaacagacttTctctctaagtggtttgttgt																										TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr17:29652976_29652979delTCTC	uc002hgg.3	+	36	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.F1658fs	NF1_uc002hgh.3_Frame_Shift_Del_p.F1637fs|NF1_uc002hgi.1_Frame_Shift_Del_p.F670fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29652979	TCTC	-	29652976	7	5	89	1	0	1	0	1	0	0	0	0	10432	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-06-5412-01A-01D-1696-08		29652976	51542234	54	5837											
KRT35	3886	broad.mit.edu	37	chr17	39637191	39637191	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttctgcccagacccacTgagcaggcagagaaacttct	10	8	9	14	0	2	3	0	1	2	2	2	4	2	3	2	1	4	3	2	1	1	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr17:39637191T>A	uc002hws.3	-	0	202	c.159A>T	c.(157-159)tcA>tcT	p.S53S		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	53	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity	p.S53L(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCAGACCCACTGAGCAGGCAG	0.632													A	39637191	T	A	39637191	2	1	89	1	0	0	0	0	0	0	0	1	8530	1567	55	5		5	KRT35	17	39637191	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	9984215	39637191	41558019	55	5838											
PTPRM	5797	broad.mit.edu	37	chr18	8244151	8244151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagagctatgctgagcaggGcacaaactgcgacgaggctt	12	6	13	10	2	0	2	0	1	0	1	0	4	0	2	0	2	5	5	0	2	3	2			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:8244151G>A	uc002knn.4	+	14	2899	c.2396G>A	c.(2395-2397)gGc>gAc	p.G799D	PTPRM_uc010dkv.3_Missense_Mutation_p.G799D|PTPRM_uc010wzl.2_Missense_Mutation_p.G586D	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	799					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCTGAGCAGGGCACAAACTGC	0.483													A	8244151	G	A	8244151	3	1	89	1	0	0	0	0	1	0	0	0	12894	1203	42	2	2454	2	PTPRM	18	8244151	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		8244151	69833097	56	5839											
PPP4R1	9989	broad.mit.edu	37	chr18	9570482	9570482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcattactagctgcttcctGgtgagattctgaggacaaag	10	12	10	9	0	2	2	1	2	1	1	3	4	3	3	1	2	3	2	1	2	3	4			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:9570482G>A	uc002koe.1	-	10	1364	c.1246C>T	c.(1246-1248)Cag>Tag	p.Q416*	PPP4R1_uc002kof.2_5'UTR|PPP4R1_uc010wzo.1_Nonsense_Mutation_p.Q262*|PPP4R1_uc002kod.1_Nonsense_Mutation_p.Q399*|PPP4R1_uc010wzp.1_Non-coding_Transcript	NM_001042388	NP_001035847	Q8TF05	PP4R1_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 1 (PPP4R1), transcript variant 1, mRNA.	416					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCTGCTTCCTGGTGAGATTCT	0.443													A	9570482	G	A	9570482	4	1	89	1	0	0	0	0	0	1	0	0	12485	1357	47	2	1646	2	PPP4R1	18	9570482	Nonsense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	1326331	9570482	68506766	57	5840											
NPC1	4864	broad.mit.edu	37	chr18	21120489	21120489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatgacagaacacccaCaaatattgctatctggaaca	16	8	7	10	0	1	3	0	2	1	1	1	4	1	4	1	1	3	2	1	1	6	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr18:21120489C>T	uc002kum.4	-	16	2801	c.2527G>A	c.(2527-2529)Gtg>Atg	p.V843M	NPC1_uc010xaz.2_Missense_Mutation_p.V576M|NPC1_uc010xba.1_Missense_Mutation_p.V688M	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	843					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGAACACCCACAAATATTGCT	0.363													T	21120489	C	T	21120489	3	4	89	1	0	0	0	0	1	0	0	0	10646	478	17	2	1345	2	NPC1	18	21120489	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	11550007	21120489	56956759	58	5841											
CREB3L3	84699	broad.mit.edu	37	chr19	4164609	4164609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggctaaagaaggcatcaCcctgcccactcagctgcccc	9	6	9	17	0	2	1	2	0	0	1	2	1	2	1	4	2	3	4	4	2	3	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr19:4164609C>T	uc002lzl.3	+	4	802	c.686C>T	c.(685-687)aCc>aTc	p.T229I	CREB3L3_uc002lzm.3_Missense_Mutation_p.T219I|CREB3L3_uc010xib.2_Missense_Mutation_p.T218I|CREB3L3_uc010xic.2_Missense_Mutation_p.T220I	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	229					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.T229P(1)		breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		GAAGGCATCACCCTGCCCACT	0.617													T	4164609	C	T	4164609	3	4	89	1	0	0	0	0	1	0	0	0	3889	507	18	2	704	2	CREB3L3	19	4164609	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08		4164609	54964374	59	5842											
DNAJB1	3337	broad.mit.edu	37	chr19	14627500	14627500	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctctttccgtcggggttTagccgcttgtgggagatttt	4	16	13	8	3	1	1	0	0	1	1	3	2	2	1	2	3	2	3	2	3	1	6	rs143985567	byFrequency	TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr19:14627500T>C	uc002myz.1	-	1	610	c.570A>G	c.(568-570)ctA>ctG	p.L190L	DNAJB1_uc010xnr.1_Silent_p.L90L	NM_006145	NP_006136	P25685	DNJB1_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 1 (DNAJB1), mRNA.	190					chaperone cofactor-dependent protein refolding|response to unfolded protein	cytoplasm|nucleolus	heat shock protein binding|unfolded protein binding	p.L190L(2)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(1328;0.0476)		CGTCGGGGTTTAGCCGCTTGT	0.483													C	14627500	T	C	14627500	2	2	89	1	0	0	0	0	0	0	0	1	4654	1741	61	3		3	DNAJB1	19	14627500	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	10462891	14627500	44501483	60	5843											
NOP56	10528	broad.mit.edu	37	chr20	2633552	2633552	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgctgaaggaagtggAggagatcagtctgctgcagc	9	7	17	8	1	2	2	1	1	1	1	2	5	2	4	0	4	3	4	0	4	2	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:2633552A>T	uc002wgh.3	+	1	197	c.68A>T	c.(67-69)gAg>gTg	p.E23V	NOP56_uc010zpy.2_Non-coding_Transcript|NOP56_uc002wgi.3_5'Flank|SNORD110_uc002wgj.3_5'Flank|SNORA51_uc002wgk.1_5'Flank	NM_006392	NP_006383	O00567	NOP56_HUMAN	Homo sapiens NOP56 ribonucleoprotein homolog (yeast) (NOP56), transcript variant 1, mRNA.	23					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AAGGAAGTGGAGGAGATCAGT	0.677													T	2633552	A	T	2633552	3	4	89	1	0	0	0	0	1	0	0	0	10615	304	11	5	74	5	NOP56	20	2633552	Missense_Mutation	SNP	A	TCGA-06-5412-01A-01D-1696-08		2633552	60391968	61	5844											
LBP	3929	broad.mit.edu	37	chr20	36992652	36992652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagagattgacagtttcGccgacattgattatagctta	13	12	8	8	2	0	3	0	2	0	1	1	5	0	3	1	0	2	2	1	0	4	6			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:36992652G>A	uc002xic.1	+	6	711	c.676G>A	c.(676-678)Gcc>Acc	p.A226T		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	226					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)				TGACAGTTTCGCCGACATTGA	0.562													A	36992652	G	A	36992652	3	1	89	1	0	0	0	0	1	0	0	0	8710	1087	38	1	702	1	LBP	20	36992652	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	34359100	36992652	26032868	62	5845											
WFDC9	259240	broad.mit.edu	37	chr20	44237357	44237357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcatgtatgatttggacGtacacaagtcattattttag	12	14	9	6	1	1	1	1	1	0	0	1	2	1	2	0	1	2	4	0	1	5	6	rs139643257	byFrequency	TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:44237357G>A	uc002xoy.3	-	3	402	c.184C>T	c.(184-186)Cgt>Tgt	p.R62C		NM_147198	NP_671731	Q8NEX5	WFDC9_HUMAN	Homo sapiens WAP four-disulfide core domain 9 (WFDC9), mRNA.	62						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				TGATTTGGACGTACACAAGTC	0.453													A	44237357	G	A	44237357	3	1	89	1	0	0	0	0	1	0	0	0	17459	1145	40	1	93	1	WFDC9	20	44237357	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	7244705	44237357	18788163	63	5846											
TP53RK	112858	broad.mit.edu	37	chr20	45315631	45315631	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcacaatgttcagctgttCcagggggggtttcaggagca	9	9	15	8	0	2	0	2	0	0	0	3	2	3	1	1	4	3	6	1	4	1	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chr20:45315631C>A	uc002xsk.3	-	1	746	c.523G>T	c.(523-525)Gaa>Taa	p.E175*	SLC13A3_uc002xsg.2_5'Flank|SLC13A3_uc010gho.2_5'Flank|TP53RK_uc002xsj.3_3'UTR	NM_033550	NP_291028	Q96S44	PRPK_HUMAN	Homo sapiens TP53 regulating kinase (TP53RK), mRNA.	175	Protein kinase.				lipopolysaccharide biosynthetic process	membrane|nucleus	ATP binding|p53 binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.L174fs*23(1)		kidney(1)|large_intestine(1)|lung(4)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TTCAGCTGTTCCAGGGGGGGT	0.498													A	45315631	C	A	45315631	4	1	89	1	0	0	0	0	0	1	0	0	16491	864	30	4	242	4	TP53RK	20	45315631	Nonsense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	1078274	45315631	17709889	64	5847											
VCX3B	425054	broad.mit.edu	37	chrX	8433593	8433593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgacccgaagaagaaGgtgagtgaccctcccaagct	12	5	11	13	1	0	5	0	3	0	2	1	6	1	5	4	1	1	1	4	1	4	0			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:8433593G>C	uc011mht.2	+	2	409	c.102_splice	c.e2+1	p.K34_splice	VCX3B_uc004csd.1_Splice_Site_p.K34_splice|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	34						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						CGAAGAAGAAGGTGAGTGACC	0.632													C	8433593	G	C	8433593	3	2	89	1	0	0	0	0	1	0	0	0	17247	1014	35	4	104	4	VCX3B	23	8433593	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08		8433593	146836967	65	5848											
USP9X	8239	broad.mit.edu	37	chrX	41075424	41075424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatacagacttgtgggtgtGctcgtacacagtggtcaagc	11	10	12	8	1	1	1	1	0	0	1	2	1	1	1	0	2	4	2	0	2	4	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:41075424G>A	uc004dfb.3	+	34	6237	c.5604G>A	c.(5602-5604)gtG>gtA	p.V1868V	USP9X_uc004dfc.3_Silent_p.V1868V	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1868					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTGTGGGTGTGCTCGTACACA	0.448													A	41075424	G	A	41075424	2	1	89	1	0	0	0	0	0	0	0	1	17192	1306	46	2		2	USP9X	23	41075424	Silent	SNP	G	TCGA-06-5412-01A-01D-1696-08	32641831	41075424	114195136	66	5849											
TEX11	56159	broad.mit.edu	37	chrX	69902635	69902635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttccgatgacttaaaacGttcatgaataatcgtcagga	14	13	7	7	3	2	2	2	2	0	0	4	4	3	3	1	1	1	1	1	1	4	5			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:69902635G>A	uc004dyl.3	-	14	1252	c.1090C>T	c.(1090-1092)Cgt>Tgt	p.R364C	TEX11_uc004dyk.3_Missense_Mutation_p.R39C|TEX11_uc004dym.3_Missense_Mutation_p.R349C	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	364							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GACTTAAAACGTTCATGAATA	0.358													A	69902635	G	A	69902635	3	1	89	1	0	0	0	0	1	0	0	0	15874	1145	40	1	1800	1	TEX11	23	69902635	Missense_Mutation	SNP	G	TCGA-06-5412-01A-01D-1696-08	28827211	69902635	85367925	67	5850											
FHL1	2273	broad.mit.edu	37	chrX	135291466	135291466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcccccagtgtgccaCgggaaacgcttgcctctcac	9	6	11	15	2	1	0	1	0	1	0	2	2	1	2	4	2	4	1	4	2	2	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:135291466C>T	uc004ezo.3	+	6	1082	c.753C>T	c.(751-753)caC>caT	p.H251H	FHL1_uc010nrz.2_Intron|FHL1_uc004ezq.2_Intron|FHL1_uc004ezm.2_Intron|FHL1_uc004ezl.2_Intron|FHL1_uc011mvy.1_Intron|FHL1_uc004ezn.2_Intron|FHL1_uc022ceu.1_Intron|FHL1_uc011mwa.1_Intron|FHL1_uc011mwb.1_Intron|FHL1_uc004ezp.2_Intron|FHL1_uc004ezr.2_Intron	NM_001159702	NP_001153174	Q13642	FHL1_HUMAN	Homo sapiens four and a half LIM domains 1 (FHL1), transcript variant 1, mRNA.	251					cell differentiation|cell growth|muscle organ development|organ morphogenesis	cytosol|nucleus|plasma membrane	protein binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(192;0.000127)					CAGTGTGCCACGGGAAACGCT	0.552											OREG0019943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	135291466	C	T	135291466	2	4	89	1	0	0	0	0	0	0	0	1	5927	535	19	1		1	FHL1	23	135291466	Silent	SNP	C	TCGA-06-5412-01A-01D-1696-08	65388831	135291466	19979094	68	5851											
SLITRK2	84631	broad.mit.edu	37	chrX	144905002	144905002	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcagagctcagacaaTggtctgaatgtaaactgcca	13	9	8	11	0	3	3	2	1	2	2	4	3	3	3	2	1	3	2	2	1	4	1			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:144905002T>C	uc022cfn.1	+	0	1059	c.1059T>C	c.(1057-1059)aaT>aaC	p.N353N	SLITRK2_uc004fcd.3_Silent_p.N353N|SLITRK2_uc010nsp.3_Silent_p.N353N|SLITRK2_uc010nso.3_Silent_p.N353N|SLITRK2_uc011mwq.2_Silent_p.N353N|SLITRK2_uc011mwr.2_Silent_p.N353N|SLITRK2_uc011mws.2_Silent_p.N353N|SLITRK2_uc004fcg.3_Silent_p.N353N|SLITRK2_uc011mwt.2_Silent_p.N353N	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	353	LRRNT.					integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAGACAATGGTCTGAATG	0.493													C	144905002	T	C	144905002	2	2	89	1	0	0	0	0	0	0	0	1	14837	1461	51	3		3	SLITRK2	23	144905002	Silent	SNP	T	TCGA-06-5412-01A-01D-1696-08	9613536	144905002	10365558	69	5852											
PLXNA3	55558	broad.mit.edu	37	chrX	153689599	153689599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagacgctgttggacaCagcgggcgagaaatttttca	11	8	12	10	3	1	2	1	0	0	2	1	4	1	3	1	2	2	3	1	2	1	3			TCGA-06-5412-01A-01D-1696-08	TCGA-06-5412-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6be0866-b8ae-4767-8cdc-e1dd4f78f440	4cb53c96-2d07-4a8e-9749-89a4d29acc17	g.chrX:153689599C>A	uc004flm.3	+	2	928	c.755C>A	c.(754-756)aCa>aAa	p.T252K		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	252	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTGTTGGACACAGCGGGCGAG	0.567													A	153689599	C	A	153689599	3	1	89	1	0	0	0	0	1	0	0	0	12198	478	17	4	761	4	PLXNA3	23	153689599	Missense_Mutation	SNP	C	TCGA-06-5412-01A-01D-1696-08	8784597	153689599	1580961	70	5853											
KIAA1751	85452	broad.mit.edu	37	chr1	1918455	1918455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaggtcccgcctctgccGacaggcgcgcagctcccctc	5	6	11	19	4	2	0	1	0	1	0	5	2	4	0	5	2	2	2	5	2	0	0			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:1918455G>A	uc001aim.1	-	4	472	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	KIAA1751_uc009vkz.1_Missense_Mutation_p.R106W|KIAA1751_uc001ain.1_Missense_Mutation_p.R106W	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	106										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CGCCTCTGCCGACAGGCGCGC	0.632													A	1918455	G	A	1918455	3	1	90	1	0	0	0	0	1	0	0	0	8314	1057	37	1	2028	1	KIAA1751	1	1918455	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		1918455	247332166	1	5854											
EIF4G3	8672	broad.mit.edu	37	chr1	21268743	21268743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagatgtctggccttcttGttctttcttctctccactga	4	19	6	12	0	6	2	1	1	5	1	8	2	7	2	2	1	0	1	2	1	0	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:21268743G>C	uc001bec.3	-	8	992	c.736C>G	c.(736-738)Caa>Gaa	p.Q246E	EIF4G3_uc010odi.2_5'UTR|EIF4G3_uc010odj.2_Missense_Mutation_p.Q245E|EIF4G3_uc009vpz.3_Intron|EIF4G3_uc001bef.3_Missense_Mutation_p.Q245E|EIF4G3_uc001bee.3_Missense_Mutation_p.Q252E|EIF4G3_uc001beg.3_Missense_Mutation_p.Q245E|EIF4G3_uc010odk.2_Missense_Mutation_p.Q246E|EIF4G3_uc001beh.3_Missense_Mutation_p.Q257E	NM_003760	NP_003751	O43432	IF4G3_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 3 (EIF4G3), transcript variant 3, mRNA.	246					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGGCCTTCTTGTTCTTTCTTC	0.448													C	21268743	G	C	21268743	3	2	90	1	0	0	0	0	1	0	0	0	5079	1386	48	4	4117	4	EIF4G3	1	21268743	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	19350288	21268743	227981878	2	5855											
RPL5	6125	broad.mit.edu	37	chr1	93298955	93298955	+	Frame_Shift_Del	DEL	A	A	-																															ttttctttaaggggtttgttAaagttgttaagaataaggcc																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:93298955delA	uc001doz.3	+	1	91	c.13delA	c.(13-15)aaafs	p.K5fs	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	5					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GGGGTTTGTTAAAGTTGTTAA	0.299													-	93298955	A	-	93298955	7	5	90	1	0	1	0	1	0	0	0	0	13688	363	13	0	19	0	RPL5	1	93298955	Frame_Shift_Del	DEL	A	TCGA-06-5413-01A-01D-1696-08	72030212	93298955	155951666	3	5856											
OVGP1	5016	broad.mit.edu	37	chr1	111957411	111957411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggacagtcaccttttcaCgggccacagccttccttcta	8	10	9	14	1	3	0	2	0	1	0	4	1	4	1	4	3	1	0	4	3	1	5	rs150120731	byFrequency	TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:111957411C>T	uc001eba.3	-	10	1768	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	OVGP1_uc001eaz.3_Missense_Mutation_p.R533H|OVGP1_uc010owb.2_Missense_Mutation_p.R219H	NM_002557	NP_002548	Q12889	OVGP1_HUMAN	Homo sapiens oviductal glycoprotein 1, 120kDa (OVGP1), mRNA.	571					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity	p.R571S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		CACCTTTTCACGGGCCACAGC	0.527													T	111957411	C	T	111957411	3	4	90	1	0	0	0	0	1	0	0	0	11401	536	19	1	328	1	OVGP1	1	111957411	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	18658456	111957411	137293210	4	5857											
SH2D1B	117157	broad.mit.edu	37	chr1	162368789	162368789	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttattggctttaaaaggTgaaccaccatcccctgattt	10	15	6	10	0	1	2	0	2	1	0	2	2	2	2	4	2	1	1	4	2	4	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:162368789T>C	uc001gbz.1	-	2	409	c.287A>G	c.(286-288)cAc>cGc	p.H96R	SH2D1B_uc001gca.1_Intron	NM_053282	NP_444512	O14796	SH21B_HUMAN	Homo sapiens SH2 domain containing 1B (SH2D1B), mRNA.	96	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTTAAAAGGTGAACCACCAT	0.423													C	162368789	T	C	162368789	3	2	90	1	0	0	0	0	1	0	0	0	14324	1696	59	3	119	3	SH2D1B	1	162368789	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	50411378	162368789	86881832	5	5858											
RYR2	6262	broad.mit.edu	37	chr1	237947200	237947200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactacacgcagtcagaaaCggaatttcttttgtcttgtg	10	13	9	9	2	3	1	1	0	2	1	3	2	3	2	0	1	2	2	0	1	3	5			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:237947200C>T	uc001hyl.1	+	89	12308	c.12188C>T	c.(12187-12189)aCg>aTg	p.T4063M	RYR2_uc010pya.2_Missense_Mutation_p.T478M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4063					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T4061M(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTCAGAAACGGAATTTCTT	0.483													T	237947200	C	T	237947200	3	4	90	1	0	0	0	0	1	0	0	0	13860	536	19	1	12546	1	RYR2	1	237947200	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	75578411	237947200	11303421	6	5859											
OR2T3	343173	broad.mit.edu	37	chr1	248637275	248637275	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctcatgtacctgtgctgCatcctcatgcttctcgcccc	5	12	7	17	2	3	0	2	0	1	0	5	0	4	0	4	0	4	5	4	0	1	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr1:248637275C>A	uc001iel.1	+	0	624	c.624C>A	c.(622-624)tgC>tgA	p.C208*		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C207*(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGTGCTGCATCCTCATGC	0.532													A	248637275	C	A	248637275	4	1	90	1	0	0	0	0	0	1	0	0	11099	718	25	4	626	4	OR2T3	1	248637275	Nonsense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	10690075	248637275	613346	7	5860											
APOB	338	broad.mit.edu	37	chr2	21228712	21228712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcttgtcatagactggtagGatgatatttttgaggaacct	10	15	10	6	0	2	3	1	2	1	1	2	5	2	5	1	3	1	1	1	3	4	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:21228712G>A	uc002red.3	-	25	11156	c.11028C>T	c.(11026-11028)atC>atT	p.I3676I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3676					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	AGACTGGTAGGATGATATTTT	0.453													A	21228712	G	A	21228712	2	1	90	1	0	0	0	0	0	0	0	1	788	1164	41	2		2	APOB	2	21228712	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		21228712	221970661	8	5861											
NLRC4	58484	broad.mit.edu	37	chr2	32460481	32460481	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtacctacctaaaattctaAtctctgtatctgtgagtctc	10	16	5	10	0	4	1	0	1	4	0	6	1	4	1	2	0	2	2	2	0	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:32460481A>C	uc002roi.3	-	7	3032	c.2771T>G	c.(2770-2772)aTt>aGt	p.I924S	NLRC4_uc021vfq.1_Missense_Mutation_p.I924S|NLRC4_uc002roj.2_Missense_Mutation_p.I924S|NLRC4_uc010ezt.2_Missense_Mutation_p.I259S	NM_001199138	NP_001186067	Q9NPP4	NLRC4_HUMAN	Homo sapiens NLR family, CARD domain containing 4 (NLRC4), transcript variant 2, mRNA.	924					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	p.I924T(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TAAAATTCTAATCTCTGTATC	0.428													C	32460481	A	C	32460481	3	2	90	1	0	0	0	0	1	0	0	0	10545	101	4	5	311	5	NLRC4	2	32460481	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	11231769	32460481	210738892	9	5862											
CEP68	23177	broad.mit.edu	37	chr2	65296848	65296848	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatgccaacagagagccCgtagctgagaggtctgagcc	11	6	14	10	1	1	4	0	3	1	2	1	6	1	4	3	1	5	2	3	1	2	1	rs112673076		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:65296848C>A	uc002sdl.4	+	1	484	c.270C>A	c.(268-270)ccC>ccA	p.P90P	CEP68_uc002sdj.2_Silent_p.P90P|CEP68_uc010yqb.1_Silent_p.P90P|CEP68_uc002sdk.4_Silent_p.P90P|CEP68_uc010yqc.2_Silent_p.P90P|CEP68_uc010yqd.1_Silent_p.P90P	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	90					centrosome organization	centrosome		p.P90P(2)		breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGAGAGCCCGTAGCTGAGA	0.627													A	65296848	C	A	65296848	2	1	90	1	0	0	0	0	0	0	0	1	3288	639	23	4		4	CEP68	2	65296848	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	32836367	65296848	177902525	10	5863											
FAM123C	205147	broad.mit.edu	37	chr2	131520873	131520873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcccaggcactcctgccGccaccttcccacgggacagc	8	4	10	19	2	0	1	0	0	0	1	2	2	2	2	6	2	3	1	6	2	0	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:131520873G>A	uc021voy.1	+	0	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T	FAM123C_uc002trw.2_Missense_Mutation_p.A410T|FAM123C_uc010fmv.2_Missense_Mutation_p.A410T|FAM123C_uc010fms.1_Missense_Mutation_p.A410T|FAM123C_uc010fmt.1_Missense_Mutation_p.A410T|FAM123C_uc010fmu.1_Missense_Mutation_p.A410T	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	410										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CACTCCTGCCGCCACCTTCCC	0.617													A	131520873	G	A	131520873	3	1	90	1	0	0	0	0	1	0	0	0	5469	1087	38	1	1230	1	FAM123C	2	131520873	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	66224025	131520873	111678500	11	5864											
SCN3A	6328	broad.mit.edu	37	chr2	165997260	165997260	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgcatcttcccattTgctggaagccctggcaccat	6	12	10	13	0	1	0	0	0	1	0	2	1	2	1	3	2	4	4	3	2	1	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:165997260T>C	uc002ucx.3	-	12	2412	c.1920A>G	c.(1918-1920)gcA>gcG	p.A640A	SCN3A_uc002ucy.3_Intron|SCN3A_uc002ucz.3_Intron|SCN3A_uc002uda.1_Intron|SCN3A_uc002udb.1_Intron	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	640						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCTTCCCATTTGCTGGAAGCC	0.542													C	165997260	T	C	165997260	2	2	90	1	0	0	0	0	0	0	0	1	14011	1799	63	3		3	SCN3A	2	165997260	Silent	SNP	T	TCGA-06-5413-01A-01D-1696-08	34476387	165997260	77202113	12	5865											
TTN	7273	broad.mit.edu	37	chr2	179647077	179647077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtaataaagtaaggcGcggcaggttctccaggccct	9	11	12	9	2	1	0	0	0	1	0	2	0	1	0	2	4	0	5	2	4	4	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:179647077G>A	uc021vsy.1	-	19	3467	c.3242C>T	c.(3241-3243)gCg>gTg	p.A1081V	TTN_uc021vsz.1_Missense_Mutation_p.A1035V|TTN_uc021vta.1_Missense_Mutation_p.A1035V|TTN_uc021vtb.1_Missense_Mutation_p.A1035V|TTN_uc002unb.2_Missense_Mutation_p.A1081V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1081			A -> T (in dbSNP:rs55914517).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGTAAGGCGCGGCAGGTTC	0.502													A	179647077	G	A	179647077	3	1	90	1	0	0	0	0	1	0	0	0	16837	1087	38	1	108118	1	TTN	2	179647077	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	13649817	179647077	63552296	13	5866											
MARS2	92935	broad.mit.edu	37	chr2	198570303	198570303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctacgtgaacgcggcgccGcacatcgggcacctgtactc	7	8	11	15	6	1	1	0	1	1	0	3	1	1	1	2	2	3	3	2	2	3	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:198570303G>A	uc002uuq.3	+	0	276	c.174G>A	c.(172-174)ccG>ccA	p.P58P	BC021693_uc002uup.3_Intron	NM_138395	NP_612404	Q96GW9	SYMM_HUMAN	Homo sapiens methionyl-tRNA synthetase 2, mitochondrial (MARS2), nuclear gene encoding mitochondrial protein, mRNA.	58					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity	p.A57A(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	ACGCGGCGCCGCACATCGGGC	0.642													A	198570303	G	A	198570303	2	1	90	1	0	0	0	0	0	0	0	1	9392	1074	38	1		1	MARS2	2	198570303	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	18923226	198570303	44629070	14	5867											
HDLBP	3069	broad.mit.edu	37	chr2	242202197	242202197	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttcctgacaccatgaTggagaggccttggtctttgg	7	12	12	10	0	1	3	0	2	1	1	2	4	2	3	3	4	1	1	3	4	0	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr2:242202197T>C	uc002waz.3	-	4	552	c.379A>G	c.(379-381)Atc>Gtc	p.I127V	HDLBP_uc002wba.3_Missense_Mutation_p.I127V|HDLBP_uc021vzg.1_Missense_Mutation_p.I163V|HDLBP_uc010fzn.1_Intron|DKFZp686L08115_uc010zoo.1_5'Flank	NM_203346	NP_976221	Q00341	VIGLN_HUMAN	Homo sapiens high density lipoprotein binding protein (HDLBP), transcript variant 2, mRNA.	127					cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GACACCATGATGGAGAGGCCT	0.512													C	242202197	T	C	242202197	3	2	90	1	0	0	0	0	1	0	0	0	7080	1464	51	3	3523	3	HDLBP	2	242202197	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	43631894	242202197	997176	15	5868											
SLC6A20	54716	broad.mit.edu	37	chr3	45800488	45800488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggccacggggtctgcGtctcccctcttgaggcgacg	4	9	13	15	4	4	1	1	1	4	0	6	2	4	1	3	4	1	0	3	4	0	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:45800488G>A	uc011bai.2	-	10	1885	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	SLC6A20_uc003cow.3_Silent_p.D237D|SLC6A20_uc011baj.2_Silent_p.D550D	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	587					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CGGGGTCTGCGTCTCCCCTCT	0.577													A	45800488	G	A	45800488	2	1	90	1	0	0	0	0	0	0	0	1	14778	1136	40	1		1	SLC6A20	3	45800488	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		45800488	152221942	16	5869											
NISCH	11188	broad.mit.edu	37	chr3	52525480	52525480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacgcacgccctcgccGgagcctgttgacaaggactt	8	7	12	14	4	0	1	0	1	0	0	1	4	0	4	3	3	2	2	3	3	2	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:52525480G>A	uc003ded.4	+	19	3989	c.3855G>A	c.(3853-3855)ccG>ccA	p.P1285P	NISCH_uc003dee.4_Silent_p.P774P|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	1285					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CGCCCTCGCCGGAGCCTGTTG	0.602													A	52525480	G	A	52525480	2	1	90	1	0	0	0	0	0	0	0	1	10508	1103	39	1		1	NISCH	3	52525480	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	6724992	52525480	145496950	17	5870											
IL17RD	54756	broad.mit.edu	37	chr3	57132318	57132318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggcgataaacttgctgagCgccgcggacgaactctgctt	9	8	12	12	6	1	1	0	1	1	0	1	4	1	2	1	2	5	2	1	2	3	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:57132318C>T	uc003dil.3	-	11	1502	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	IL17RD_uc003dik.3_Silent_p.A447A|IL17RD_uc010hna.3_Silent_p.A327A|IL17RD_uc011bex.1_Silent_p.A327A	NM_017563	NP_060033	Q8NFM7	I17RD_HUMAN	Homo sapiens interleukin 17 receptor D (IL17RD), mRNA.	471	SEFIR.					Golgi membrane|integral to membrane|plasma membrane	receptor activity	p.A471A(1)|p.A327A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		ACTTGCTGAGCGCCGCGGACG	0.572													T	57132318	C	T	57132318	2	4	90	1	0	0	0	0	0	0	0	1	7700	755	27	1		1	IL17RD	3	57132318	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	4606838	57132318	140890112	18	5871											
CD86	942	broad.mit.edu	37	chr3	121828238	121828238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaagaagaagcggcctcGcaactcttataaatgtggtg	14	8	12	7	2	1	3	0	0	1	3	2	4	1	3	1	2	2	1	1	2	8	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:121828238G>A	uc003eet.3	+	4	958	c.830G>A	c.(829-831)cGc>cAc	p.R277H	CD86_uc011bjo.2_Missense_Mutation_p.R195H|CD86_uc011bjp.2_Missense_Mutation_p.R165H|CD86_uc003eeu.3_Missense_Mutation_p.R271H|CD86_uc021xcz.1_Intron	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	277					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	AAGCGGCCTCGCAACTCTTAT	0.468													A	121828238	G	A	121828238	3	1	90	1	0	0	0	0	1	0	0	0	3073	1087	38	1	848	1	CD86	3	121828238	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	64695920	121828238	76194192	19	5872											
PIK3CA	5290	broad.mit.edu	37	chr3	178916728	178916728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactttagaatgcctccgtGaggctacattaataaccata	13	12	7	9	1	0	3	0	2	0	1	1	3	1	3	3	1	3	1	3	1	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr3:178916728G>A	uc003fjk.3	+	1	272	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	39	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(8)|p.E39K(5)|p.R38C(2)|p.R38L(1)|p.R38G(1)|p.E39G(1)|p.R38S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGCCTCCGTGAGGCTACATT	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916728	G	A	178916728	3	1	90	1	0	0	0	0	1	0	0	0	11990	1291	45	2	117	2	PIK3CA	3	178916728	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	57088490	178916728	19105702	20	5873											
SLC4A4	8671	broad.mit.edu	37	chr4	72399971	72399971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaaaccgaggttggttcGttccaccgtttggagaaaac	10	10	11	10	3	0	1	0	0	0	1	3	3	2	1	4	3	2	4	4	3	3	4	rs150967020		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:72399971G>A	uc010iic.3	+	17	2425	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	SLC4A4_uc003hfy.3_Missense_Mutation_p.V770I|SLC4A4_uc010iib.3_Missense_Mutation_p.V770I|SLC4A4_uc003hfz.3_Missense_Mutation_p.V770I|SLC4A4_uc003hgc.4_Missense_Mutation_p.V726I|SLC4A4_uc010iid.3_5'UTR	NM_001134742	NP_001128214	Q9Y6R1	S4A4_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 4 (SLC4A4), transcript variant 3, mRNA.	770	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.V770I(2)|p.V726I(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGTTGGTTCGTTCCACCGTT	0.423													A	72399971	G	A	72399971	3	1	90	1	0	0	0	0	1	0	0	0	14750	1145	40	1	2495	1	SLC4A4	4	72399971	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		72399971	118754305	21	5874											
PPEF2	5470	broad.mit.edu	37	chr4	76797822	76797822	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgcacctcatggtggaaActatctaaacacgtccagaa	13	11	7	10	1	2	1	1	0	1	1	3	2	3	2	2	2	3	1	2	2	5	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:76797822A>G	uc003hix.3	-	10	1295	c.938T>C	c.(937-939)gTt>gCt	p.V313A	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.V313A	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	313	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CATGGTGGAAACTATCTAAAC	0.502													G	76797822	A	G	76797822	3	3	90	1	0	0	0	0	1	0	0	0	12385	43	2	3	1351	3	PPEF2	4	76797822	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	4397851	76797822	114356454	22	5875											
MAPK10	5602	broad.mit.edu	37	chr4	87028499	87028499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaggacagcatcataCgcggcactgtagagatccaa	13	7	10	11	2	2	1	2	0	0	1	3	3	3	2	1	2	2	3	1	2	4	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:87028499C>T	uc003hps.3	-	4	929	c.243G>A	c.(241-243)gcG>gcA	p.A81A	MAPK10_uc010ikg.3_Silent_p.A43A|MAPK10_uc003hpr.3_Silent_p.A43A|MAPK10_uc003hpt.3_Silent_p.A81A|MAPK10_uc003hpu.3_Silent_p.A81A|MAPK10_uc003hpv.3_5'UTR|MAPK10_uc010ikh.1_Non-coding_Transcript|MAPK10_uc011ccw.2_5'UTR|MAPK10_uc003hpo.3_5'UTR|MAPK10_uc003hpp.3_5'UTR	NM_138982	NP_620446	P53779	MK10_HUMAN	Homo sapiens mitogen-activated protein kinase 10 (MAPK10), transcript variant 2, mRNA.	81	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CAGCATCATACGCGGCACTGT	0.443													T	87028499	C	T	87028499	2	4	90	1	0	0	0	0	0	0	0	1	9347	523	19	1		1	MAPK10	4	87028499	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08	10230677	87028499	104125777	23	5876											
BBS12	166379	broad.mit.edu	37	chr4	123665161	123665161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataaattcacaggaattaaCgggctttctatttttgtagt	12	16	8	5	1	2	0	1	0	1	0	2	2	2	1	0	2	1	2	0	2	6	8			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:123665161C>T	uc021xrm.1	+	2	2495	c.2114C>T	c.(2113-2115)aCg>aTg	p.T705M	BBS12_uc003ieu.3_Missense_Mutation_p.T705M|BBS12_uc021xrn.1_Missense_Mutation_p.T705M	NM_001178007	NP_689831	Q6ZW61	BBS12_HUMAN	Homo sapiens Bardet-Biedl syndrome 12 (BBS12), transcript variant 1, mRNA.	705					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						CAGGAATTAACGGGCTTTCTA	0.348									Bardet-Biedl syndrome				T	123665161	C	T	123665161	3	4	90	1	0	0	0	0	1	0	0	0	1342	536	19	1	2116	1	BBS12	4	123665161	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	36636662	123665161	67489115	24	5877											
PLK4	10733	broad.mit.edu	37	chr4	128807278	128807278	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttcgtagaaatccagcAgatcgtttaagtctgtcttc	10	15	7	9	2	2	2	0	0	2	2	6	2	3	2	1	0	2	3	1	0	4	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:128807278A>T	uc003ifo.3	+	4	1027	c.753A>T	c.(751-753)gcA>gcT	p.A251A	PLK4_uc011cgs.2_Silent_p.A219A|PLK4_uc011cgt.2_Silent_p.A210A	NM_014264	NP_001177730	O00444	PLK4_HUMAN	Homo sapiens polo-like kinase 4 (PLK4), transcript variant 1, mRNA.	251	Protein kinase.				G2/M transition of mitotic cell cycle|positive regulation of centriole replication|trophoblast giant cell differentiation	centriole|cleavage furrow|cytosol|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	31						GAAATCCAGCAGATCGTTTAA	0.353													T	128807278	A	T	128807278	2	4	90	1	0	0	0	0	0	0	0	1	12175	175	7	5		5	PLK4	4	128807278	Silent	SNP	A	TCGA-06-5413-01A-01D-1696-08	5142117	128807278	62346998	25	5878											
NEK1	4750	broad.mit.edu	37	chr4	170398275	170398275	+	Frame_Shift_Del	DEL	T	T	-																															taatatactactatacatacTttcagttgtagagaaggatg																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr4:170398275delT	uc003isd.2	-	26	3012	c.2434_splice	c.e26+1	p.R812_splice	NEK1_uc003ise.2_Splice_Site_p.R768_splice|NEK1_uc003isb.2_Splice_Site_p.R784_splice|NEK1_uc003isc.2_Splice_Site_p.R740_splice|NEK1_uc003isf.2_Splice_Site_p.R715_splice	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	784					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CTATACATACTTTCAGTTGTA	0.343													-	170398275	T	-	170398275	7	5	90	1	0	1	0	1	0	0	0	0	10397	1623	56	0	1470	0	NEK1	4	170398275	Frame_Shift_Del	DEL	T	TCGA-06-5413-01A-01D-1696-08	41590997	170398275	20756001	26	5879											
ADAMTS12	81792	broad.mit.edu	37	chr5	33549384	33549384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcaatgggggaggaatGccggccaggaactggcagtg	10	6	17	8	1	1	0	1	0	0	0	1	3	1	3	2	6	3	2	2	6	3	0			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:33549384G>A	uc003jia.1	-	20	4393	c.4230C>T	c.(4228-4230)ggC>ggT	p.G1410G	ADAMTS12_uc010iuq.1_Silent_p.G1325G	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1410	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.A1409A(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGGGAGGAATGCCGGCCAGGA	0.612										HNSCC(64;0.19)			A	33549384	G	A	33549384	2	1	90	1	0	0	0	0	0	0	0	1	257	1306	46	2		2	ADAMTS12	5	33549384	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		33549384	147365876	27	5880											
IL3	3562	broad.mit.edu	37	chr5	131396547	131396547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacacacttaaagcagccaCctttgcctttgctggtgagt	10	12	8	11	0	0	1	0	1	0	0	0	1	0	1	3	1	5	2	3	1	3	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:131396547C>T	uc003kwe.1	+	0	201	c.148C>T	c.(148-150)Cct>Tct	p.P50S		NM_000588	NP_000579	P08700	IL3_HUMAN	Homo sapiens interleukin 3 (colony-stimulating factor, multiple) (IL3), mRNA.	50					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	AAAGCAGCCACCTTTGCCTTT	0.522													T	131396547	C	T	131396547	3	4	90	1	0	0	0	0	1	0	0	0	7747	507	18	2	150	2	IL3	5	131396547	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	97847163	131396547	49518713	28	5881											
FAT2	2196	broad.mit.edu	37	chr5	150947262	150947262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggtgatcaacccagttcGagcattaagtttaaatccta	12	12	9	8	1	1	1	1	1	0	0	3	2	2	1	2	2	2	3	2	2	5	5			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr5:150947262G>A	uc003lue.4	-	0	1244	c.1231C>T	c.(1231-1233)Cga>Tga	p.R411*	FAT2_uc010jhx.1_Nonsense_Mutation_p.R411*	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	411	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCCAGTTCGAGCATTAAGT	0.532													A	150947262	G	A	150947262	4	1	90	1	0	0	0	0	0	1	0	0	5739	1066	37	1	11910	1	FAT2	5	150947262	Nonsense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	19550715	150947262	29967998	29	5882											
BRPF3	27154	broad.mit.edu	37	chr6	36185728	36185728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggaaaacacaccgaaagCgggtctgactctgaatgtag	13	9	11	8	2	2	2	0	2	2	0	2	4	2	3	1	2	2	1	1	2	5	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:36185728C>T	uc003olv.4	+	8	3248	c.3024C>T	c.(3022-3024)agC>agT	p.S1008S	BRPF3_uc010jwb.3_Silent_p.S738S|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Intron|BRPF3_uc010jwd.3_5'UTR	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	1008					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						ACACCGAAAGCGGGTCTGACT	0.512													T	36185728	C	T	36185728	2	4	90	1	0	0	0	0	0	0	0	1	1530	767	27	1		1	BRPF3	6	36185728	Silent	SNP	C	TCGA-06-5413-01A-01D-1696-08		36185728	134929339	30	5883											
LGSN	51557	broad.mit.edu	37	chr6	63990385	63990385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaacagaaggcgccatcagGcagctgagcgcagcagagtg	12	4	14	11	2	1	3	1	1	0	2	1	3	1	3	1	2	4	4	1	2	2	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:63990385G>A	uc003peh.3	-	3	1105	c.1071C>T	c.(1069-1071)tgC>tgT	p.C357C	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	357					glutamine biosynthetic process		glutamate-ammonia ligase activity	p.C357S(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCGCCATCAGGCAGCTGAGCG	0.498													A	63990385	G	A	63990385	2	1	90	1	0	0	0	0	0	0	0	1	8819	1195	42	2		2	LGSN	6	63990385	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	27804657	63990385	107124682	31	5884											
PPIL6	285755	broad.mit.edu	37	chr6	109752404	109752404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaaatcctcagtgagtgCgtcataaagtgcagagggtt	13	9	13	6	1	2	2	2	1	0	1	3	3	3	3	1	2	2	2	1	2	4	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:109752404C>T	uc010kdp.3	-	2	957	c.376G>A	c.(376-378)Gca>Aca	p.A126T	PPIL6_uc003ptg.4_Missense_Mutation_p.A126T|PPIL6_uc021zdq.1_Non-coding_Transcript	NM_001111298	NP_001104768	Q8IXY8	PPIL6_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 6 (PPIL6), transcript variant 2, mRNA.	126					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		TCAGTGAGTGCGTCATAAAGT	0.393													T	109752404	C	T	109752404	3	4	90	1	0	0	0	0	1	0	0	0	12413	768	27	1	665	1	PPIL6	6	109752404	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	45762019	109752404	61362663	32	5885											
UNC93A	54346	broad.mit.edu	37	chr6	167704889	167704889	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaatgggacttcttggtaCtgattgtttttcccatgcct	7	16	10	8	0	1	2	0	1	1	1	2	4	2	3	2	2	2	2	2	2	2	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr6:167704889C>A	uc003qvq.3	+	0					UNC93A_uc003qvr.3_5'UTR	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CTTCTTGGTACTGATTGTTTT	0.398													A	167704889	C	A	167704889	1	1	90	1	0	0	0	0	0	0	0	0	17098	580	20	4		4	UNC93A	6	167704889	Translation_Start_Site	SNP	C	TCGA-06-5413-01A-01D-1696-08	57952485	167704889	3410178	33	5886											
DAGLB	221955	broad.mit.edu	37	chr7	6476110	6476110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaaaacagcgccaggCggatgtaaagcagcttagac	15	5	12	9	2	0	1	0	0	0	1	0	3	0	3	1	3	4	3	1	3	6	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:6476110C>A	uc003sqa.3	-	2	472	c.302G>T	c.(301-303)cGc>cTc	p.R101L	DAGLB_uc011jwt.2_5'Flank|DAGLB_uc011jwu.2_Missense_Mutation_p.R101L|DAGLB_uc003sqb.3_Intron|DAGLB_uc003sqc.3_Intron|DAGLB_uc011jwv.2_Intron|DAGLB_uc003sqd.4_Missense_Mutation_p.R60L|DAGLB_uc011jww.1_Intron	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	101					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		CAGCGCCAGGCGGATGTAAAG	0.522													A	6476110	C	A	6476110	3	1	90	1	0	0	0	0	1	0	0	0	4261	768	27	4	1768	4	DAGLB	7	6476110	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		6476110	152662553	34	5887											
FAM188B	84182	broad.mit.edu	37	chr7	30915152	30915152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggaaagctgtgtccaacGttttcaacgatgtggttgag	9	12	13	7	2	1	1	1	1	0	0	2	3	2	2	1	2	3	3	1	2	3	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:30915152G>A	uc003tbt.3	+	14	1929	c.1852G>A	c.(1852-1854)Gtt>Att	p.V618I	FAM188B_uc010kwe.3_Missense_Mutation_p.V589I|FAM188B_uc011kac.1_5'UTR|FAM188B_uc003tbu.3_Missense_Mutation_p.V138I	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	618										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGTGTCCAACGTTTTCAACGA	0.463													A	30915152	G	A	30915152	3	1	90	1	0	0	0	0	1	0	0	0	5561	1145	40	1	1910	1	FAM188B	7	30915152	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	24439042	30915152	128223511	35	5888											
EGFR	1956	broad.mit.edu	37	chr7	55259469	55259469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgacctggcagccaggaacGtactggtgaaaacaccgcag	12	4	13	12	3	0	1	0	1	0	0	0	3	0	2	3	3	4	3	3	3	4	1	rs146795390		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:55259469G>C	uc003tqk.3	+	20	2773	c.2527G>C	c.(2527-2529)Gta>Cta	p.V843L	EGFR_uc022adm.1_Missense_Mutation_p.V843L|EGFR_uc010kzg.2_Missense_Mutation_p.V798L|EGFR_uc022adn.1_Missense_Mutation_p.V798L|EGFR_uc011kco.2_Missense_Mutation_p.V790L|AK123474_uc003tqo.3_5'Flank|EGFR_uc022ado.1_Missense_Mutation_p.V78L	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	843	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V843I(11)|p.V843L(2)|p.N842D(2)|p.N842H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCCAGGAACGTACTGGTGAA	0.537		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55259469	G	C	55259469	3	2	90	1	0	0	0	0	1	0	0	0	5006	1145	40	4	2873	4	EGFR	7	55259469	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	24344317	55259469	103879194	36	5889											
SERPINE1	5054	broad.mit.edu	37	chr7	100771685	100771685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctctaggatgcagatgtCtccagccctcacctgcctag	7	11	9	14	0	3	1	1	0	2	1	4	2	3	2	4	1	4	2	4	1	2	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:100771685C>G	uc003uxt.3	+	1	159	c.11C>G	c.(10-12)tCt>tGt	p.S4C	SERPINE1_uc011kkj.2_Missense_Mutation_p.S4C	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	4					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	ATGCAGATGTCTCCAGCCCTC	0.622													G	100771685	C	G	100771685	3	3	90	1	0	0	0	0	1	0	0	0	14204	913	32	4	13	4	SERPINE1	7	100771685	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	45512216	100771685	58366978	37	5890											
OR2A1	346528	broad.mit.edu	37	chr7	144015519	144015519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgcatgacgcagacctTtctctgtttgagttttggac	6	15	11	9	1	1	3	0	2	1	1	2	4	1	4	1	2	1	5	1	2	0	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:144015519T>G	uc011kud.2	+	0	302	c.302T>G	c.(301-303)tTt>tGt	p.F101C	OR2A9P_uc003wec.1_Intron	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					ACGCAGACCTTTCTCTGTTTG	0.572													G	144015519	T	G	144015519	3	3	90	1	0	0	0	0	1	0	0	0	11050	1841	64	5	304	5	OR2A1	7	144015519	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	43243834	144015519	15123144	38	5891											
SSPO	23145	broad.mit.edu	37	chr7	149493793	149493793	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggactgcgaggatggctcGgatgaggagggctgtgtgtt	6	10	19	6	2	0	1	0	1	0	0	1	6	0	5	0	6	1	3	0	6	0	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:149493793G>A	uc010lpk.3	+	44	6780	c.6780G>A	c.(6778-6780)tcG>tcA	p.S2260S		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2263	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGATGGCTCGGATGAGGAGG	0.652													A	149493793	G	A	149493793	2	1	90	1	0	0	0	0	0	0	0	1	15285	1103	39	1		1	SSPO	7	149493793	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08	5478274	149493793	9644870	39	5892											
UBE3C	9690	broad.mit.edu	37	chr7	157046788	157046788	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccagggccttgccaaTgtcgtcagcctcgagtggct	5	10	12	14	3	1	0	1	0	0	0	4	1	2	0	5	2	2	1	5	2	1	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr7:157046788T>C	uc010lqs.3	+	19	3147	c.2835T>C	c.(2833-2835)aaT>aaC	p.N945N	UBE3C_uc003wni.4_Silent_p.N308N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	945	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GCCTTGCCAATGTCGTCAGCC	0.562													C	157046788	T	C	157046788	2	2	90	1	0	0	0	0	0	0	0	1	16983	1461	51	3		3	UBE3C	7	157046788	Silent	SNP	T	TCGA-06-5413-01A-01D-1696-08	7552995	157046788	2091875	40	5893											
GCNT1	2650	broad.mit.edu	37	chr9	79118132	79118132	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatgcttcctccactcGaaacacctctcttttctggc	9	13	4	15	1	3	0	1	0	2	0	7	1	5	0	3	1	2	1	3	1	3	3	rs656106		TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr9:79118132G>T	uc022bif.1	+	0	835	c.835G>T	c.(835-837)Gaa>Taa	p.E279*	GCNT1_uc010mpf.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mpg.3_Nonsense_Mutation_p.E279*|GCNT1_uc010mph.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akf.4_Nonsense_Mutation_p.E279*|GCNT1_uc010mpi.3_Nonsense_Mutation_p.E279*|GCNT1_uc004akh.4_Nonsense_Mutation_p.E279*	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	279	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TCCTCCACTCGAAACACCTCT	0.463													T	79118132	G	T	79118132	4	4	90	1	0	0	0	0	0	1	0	0	6354	1059	37	4	837	4	GCNT1	9	79118132	Nonsense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		79118132	62095299	41	5894											
MRC1	4360	broad.mit.edu	37	chr10	17949554	17949554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctgatgaccagggacGtggctgtggataaataacag	12	11	12	6	1	1	2	0	2	1	0	1	4	1	4	1	3	1	1	1	3	4	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:17949554G>A	uc001ipk.3	+	27	4021	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T		NM_002438	NP_002429	P22897	MRC1_HUMAN	Homo sapiens mannose receptor, C type 1 (MRC1), mRNA.	1306	C-type lectin 8.				receptor-mediated endocytosis	endosome membrane|integral to plasma membrane	mannose binding|receptor activity			breast(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	6						GACCAGGGACGTGGCTGTGGA	0.383													A	17949554	G	A	17949554	2	1	90	1	0	0	0	0	0	0	0	1	9832	1132	40	1		1	MRC1	10	17949554	Silent	SNP	G	TCGA-06-5413-01A-01D-1696-08		17949554	117585193	42	5895											
CTNNA3	29119	broad.mit.edu	37	chr10	69407205	69407205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctccagtagcttctccaCggtgaatgtttggacctgca	8	11	11	11	1	1	1	0	1	1	0	3	2	2	2	3	3	2	5	3	3	2	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr10:69407205C>T	uc009xpn.1	-	1	190	c.67G>A	c.(67-69)Gtg>Atg	p.V23M	CTNNA3_uc001jmw.2_Missense_Mutation_p.V23M|CTNNA3_uc001jmx.4_Missense_Mutation_p.V23M|CTNNA3_uc009xpo.1_5'UTR|CTNNA3_uc001jna.2_Missense_Mutation_p.V35M	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	23					cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCTTCTCCACGGTGAATGTT	0.393													T	69407205	C	T	69407205	3	4	90	1	0	0	0	0	1	0	0	0	4047	536	19	1	2688	1	CTNNA3	10	69407205	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	51457651	69407205	66127542	43	5896											
TTC17	55761	broad.mit.edu	37	chr11	43411222	43411222	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaattagttgctcaaaaAattcacatagaagagaatga	21	9	6	5	0	2	3	2	1	0	2	2	4	2	3	0	0	2	2	0	0	9	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:43411222A>C	uc001mxi.3	+	2	340	c.270A>C	c.(268-270)aaA>aaC	p.K90N	TTC17_uc001mxh.3_Missense_Mutation_p.K90N|TTC17_uc010rfj.2_Missense_Mutation_p.K33N	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	90							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTGCTCAAAAAATTCACATAG	0.393													C	43411222	A	C	43411222	3	2	90	1	0	0	0	0	1	0	0	0	16786	11	1	5	280	5	TTC17	11	43411222	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		43411222	91595294	44	5897											
OR4D9	390199	broad.mit.edu	37	chr11	59282555	59282555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaatctcaccttcataCgcccatgtacttcctgctcc	7	13	5	16	1	2	1	2	1	1	0	5	1	4	1	4	0	3	2	4	0	3	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:59282555C>T	uc010rkv.2	+	0	170	c.170C>T	c.(169-171)aCg>aTg	p.T57M		NM_001004711	NP_001004711	Q8NGE8	OR4D9_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 9 (OR4D9), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CACCTTCATACGCCCATGTAC	0.433													T	59282555	C	T	59282555	3	4	90	1	0	0	0	0	1	0	0	0	11135	536	19	1	172	1	OR4D9	11	59282555	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	15871333	59282555	75723961	45	5898											
GLB1L3	112937	broad.mit.edu	37	chr11	134182345	134182345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagaagtccatctgctccGgaggccgcctccgtgcccac	7	7	11	16	3	1	1	0	1	1	1	4	3	4	2	6	2	2	1	6	2	1	0			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr11:134182345G>A	uc009zdf.3	+	13	1750	c.1390G>A	c.(1390-1392)Gga>Aga	p.G464R	GLB1L3_uc001qho.4_Non-coding_Transcript	NM_001080407	NP_001073876	Q8NCI6	GLBL3_HUMAN	Homo sapiens galactosidase, beta 1-like 3 (GLB1L3), mRNA.	464					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CATCTGCTCCGGAGGCCGCCT	0.607													A	134182345	G	A	134182345	3	1	90	1	0	0	0	0	1	0	0	0	6486	1117	39	1	1444	1	GLB1L3	11	134182345	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	74899790	134182345	824171	46	5899											
KLRD1	3824	broad.mit.edu	37	chr12	10466085	10466085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccgcctggttgtgggAgaatggctctgcactctccc	6	9	12	14	1	2	1	0	0	2	1	3	2	2	1	3	3	1	4	3	3	1	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr12:10466085A>T	uc009zhi.3	+	4					KLRD1_uc001qxw.4_Missense_Mutation_p.E131V|KLRD1_uc001qxx.4_Missense_Mutation_p.E131V|KLRD1_uc001qxy.4_Missense_Mutation_p.E100V|KLRD1_uc009zhh.3_Missense_Mutation_p.E110V|KLRD1_uc001qxz.4_Missense_Mutation_p.E132V			Q13241	KLRD1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily D, member 1 (KLRD1), transcript variant 1, mRNA.						cell surface receptor linked signaling pathway|regulation of immune response	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	10						TGGTTGTGGGAGAATGGCTCT	0.418													T	10466085	A	T	10466085	3	4	90	1	0	0	0	0	1	0	0	0	8477	304	11	5	410	5	KLRD1	12	10466085	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		10466085	123385810	47	5900											
TEP1	7011	broad.mit.edu	37	chr14	20848171	20848171	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattggtggagaaggccAcagcagtaggggatgaggaa	12	5	17	7	0	0	2	0	1	0	1	0	5	0	4	2	6	1	2	2	6	3	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:20848171A>G	uc001vxe.3	-	34	5085	c.5045T>C	c.(5044-5046)gTg>gCg	p.V1682A	TEP1_uc010ahk.3_Missense_Mutation_p.V1025A|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.V1574A|TEP1_uc010tlh.1_Missense_Mutation_p.V20A	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1682					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGAGAAGGCCACAGCAGTAGG	0.507													G	20848171	A	G	20848171	3	3	90	1	0	0	0	0	1	0	0	0	15859	159	6	3	2922	3	TEP1	14	20848171	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08		20848171	86501369	48	5901											
CHD8	57680	broad.mit.edu	37	chr14	21860822	21860832	+	Frame_Shift_Del	DEL	AGGAGTCAATG	AGGAGTCAATG	-																															ggagagtcaccatattctccAggagtcaatgagggactgtc																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:21860822_21860832delAGGAGTCAATG	uc001war.2	-	32	6670_6680	c.6605_6615delCATTGACTCCT	c.(6604-6615)tcattgactcctfs	p.S2202fs	CHD8_uc001was.2_Frame_Shift_Del_p.S1923fs|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2202					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATATTCTCCAGGAGTCAATGAGGGACTGTC	0.555													-	21860832	AGGAGTCAATG	-	21860822	7	5	90	1	0	1	0	1	0	0	0	0	3361	175	7	0	1150	0	CHD8	14	21860822	Frame_Shift_Del	DEL	AGGAGTCAATG	TCGA-06-5413-01A-01D-1696-08	1012651	21860822	85488718	49	5902											
TMEM229B	161145	broad.mit.edu	37	chr14	67940502	67940502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgaagagggcccacaCgctcgtgaccccagggaact	11	5	13	12	2	0	4	0	2	0	2	1	5	0	5	3	2	1	2	3	2	3	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr14:67940502C>T	uc001xjk.3	-	2	549	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.V47M	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	47						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGGGCCCACACGCTCGTGACC	0.617													T	67940502	C	T	67940502	3	4	90	1	0	0	0	0	1	0	0	0	16248	536	19	1	368	1	TMEM229B	14	67940502	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	46079680	67940502	39409038	50	5903											
PTX4	390667	broad.mit.edu	37	chr16	1537571	1537571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggcccgagggctgcagtgCcagggtgggccacgggcagc	5	3	19	14	3	0	0	0	0	0	0	0	1	0	0	4	5	3	3	4	5	0	0			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:1537571C>T	uc010uvf.2	-	1	527	c.527G>A	c.(526-528)gGc>gAc	p.G176D		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	181						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGCTGCAGTGCCAGGGTGGGC	0.726													T	1537571	C	T	1537571	3	4	90	1	0	0	0	0	1	0	0	0	12911	739	26	2	901	2	PTX4	16	1537571	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		1537571	88817182	51	5904											
PRKCB	5579	broad.mit.edu	37	chr16	24104126	24104126	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagtaagagatgctaaaAaccttgtacctatggacccc	13	11	7	10	0	1	1	1	0	0	1	1	3	1	2	4	1	3	3	4	1	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:24104126A>T	uc002dmd.3	+	5	741	c.544A>T	c.(544-546)Aac>Tac	p.N182Y	PRKCB_uc002dme.3_Missense_Mutation_p.N182Y	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	182	C2.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	AGATGCTAAAAACCTTGTACC	0.418													T	24104126	A	T	24104126	3	4	90	1	0	0	0	0	1	0	0	0	12594	14	1	5	566	5	PRKCB	16	24104126	Missense_Mutation	SNP	A	TCGA-06-5413-01A-01D-1696-08	22566555	24104126	66250627	52	5905											
SPNS1	83985	broad.mit.edu	37	chr16	28992797	28992797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgtctcccaggtgacaCcgggtctaggagtggtggcc	5	9	14	13	1	3	1	0	1	3	0	4	2	3	2	4	5	0	0	4	5	1	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:28992797C>A	uc010vdi.1	+	6	810	c.670C>A	c.(670-672)Ccg>Acg	p.P224T	NPIPL1_uc010vct.2_Intron|SPNS1_uc002drx.2_Missense_Mutation_p.P151T|SPNS1_uc002dsa.2_Missense_Mutation_p.P224T|SPNS1_uc002drz.2_Missense_Mutation_p.P224T|SPNS1_uc010byp.2_Missense_Mutation_p.P202T|LAT_uc002dsb.3_5'Flank|LAT_uc002dsd.3_5'Flank|LAT_uc002dsc.3_5'Flank	NM_001142448	NP_001135922	Q9H2V7	SPNS1_HUMAN	Homo sapiens spinster homolog 1 (Drosophila) (SPNS1), transcript variant 2, mRNA.	224					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCAGGTGACACCGGGTCTAGG	0.622											OREG0023712	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	28992797	C	A	28992797	3	1	90	1	0	0	0	0	1	0	0	0	15170	507	18	4	692	4	SPNS1	16	28992797	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	4888671	28992797	61361956	53	5906											
SETD1A	9739	broad.mit.edu	37	chr16	30970183	30970183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaggtgtaccgctatgatgGagtccacttcagtgtcaacg	10	10	12	9	2	2	1	2	1	0	0	3	3	3	2	2	2	2	2	2	2	4	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr16:30970183G>A	uc002ead.1	+	1	817	c.131G>A	c.(130-132)gGa>gAa	p.G44E	SETD1A_uc002eae.1_Missense_Mutation_p.G44E	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CGCTATGATGGAGTCCACTTC	0.597													A	30970183	G	A	30970183	3	1	90	1	0	0	0	0	1	0	0	0	14223	1174	41	2	133	2	SETD1A	16	30970183	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	1977386	30970183	59384570	54	5907											
ZPBP2	124626	broad.mit.edu	37	chr17	38027064	38027064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgggcctaatgaaaagaCgttaacaggtaaatttgatt	15	12	10	4	1	0	3	0	2	0	1	0	4	0	3	1	2	1	2	1	2	6	6			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:38027064C>T	uc002hte.3	+	2	389	c.236C>T	c.(235-237)aCg>aTg	p.T79M	ZPBP2_uc002htf.3_Missense_Mutation_p.T57M	NM_199321	NP_955353	Q6X784	ZPBP2_HUMAN	Homo sapiens zona pellucida binding protein 2 (ZPBP2), transcript variant 2, mRNA.	79					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AATGAAAAGACGTTAACAGGT	0.284													T	38027064	C	T	38027064	3	4	90	1	0	0	0	0	1	0	0	0	18319	536	19	1	246	1	ZPBP2	17	38027064	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		38027064	43168146	55	5908											
AKAP1	8165	broad.mit.edu	37	chr17	55189944	55189944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgctcccccattgcctTcactggcactgccttctctg	4	13	6	18	1	3	0	1	0	2	0	5	0	4	0	4	1	3	2	4	1	1	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:55189944T>A	uc010wnl.2	+	5	2350	c.2068T>A	c.(2068-2070)Tca>Aca	p.S690T	AKAP1_uc002iux.3_Missense_Mutation_p.S690T|AKAP1_uc021uak.1_Missense_Mutation_p.S690T|AKAP1_uc010dcm.3_Missense_Mutation_p.S690T|AKAP1_uc002iuy.3_Non-coding_Transcript	NM_001242902	NP_001229831	Q92667	AKAP1_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 1 (AKAP1), transcript variant 2, mRNA.	690					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CCCATTGCCTTCACTGGCACT	0.502													A	55189944	T	A	55189944	3	1	90	1	0	0	0	0	1	0	0	0	445	1783	62	5	2082	5	AKAP1	17	55189944	Missense_Mutation	SNP	T	TCGA-06-5413-01A-01D-1696-08	17162880	55189944	26005266	56	5909											
MPO	4353	broad.mit.edu	37	chr17	56352985	56352985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaggctcttgagctctGtggccagccggttgtgctcc	3	12	14	12	1	3	1	1	1	2	0	4	1	4	1	3	4	3	5	3	4	0	3			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr17:56352985G>C	uc002ivu.1	-	7	1460	c.1283C>G	c.(1282-1284)aCa>aGa	p.T428R		NM_000250	NP_000241	P05164	PERM_HUMAN	Homo sapiens myeloperoxidase (MPO), nuclear gene encoding mitochondrial protein, mRNA.	428					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CTTGAGCTCTGTGGCCAGCCG	0.617													C	56352985	G	C	56352985	3	2	90	1	0	0	0	0	1	0	0	0	9808	1377	48	4	974	4	MPO	17	56352985	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08	1163041	56352985	24842225	57	5910											
LRP3	4037	broad.mit.edu	37	chr19	33696170	33696170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agggaagctgggccaggcatCctgccaggcagatgagttcc	9	6	15	11	0	0	2	0	1	0	1	2	3	2	3	4	4	2	4	4	4	1	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:33696170C>G	uc010edh.3	+	4	587	c.494C>G	c.(493-495)tCc>tGc	p.S165C	LRP3_uc010xrp.1_Missense_Mutation_p.S39C|LRP3_uc002nuk.4_Missense_Mutation_p.S39C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	165	LDL-receptor class A 1.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GGCCAGGCATCCTGCCAGGCA	0.662													G	33696170	C	G	33696170	3	3	90	1	0	0	0	0	1	0	0	0	9028	855	30	4	512	4	LRP3	19	33696170	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		33696170	25432813	58	5911											
NCR1	9437	broad.mit.edu	37	chr19	55420766	55420766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatacgggaaggtccaggCggagttccccctgggccctg	6	6	16	13	3	0	0	0	0	0	0	2	3	2	3	4	6	1	1	4	6	2	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr19:55420766C>T	uc002qib.2	+	3	556	c.518C>T	c.(517-519)gCg>gTg	p.A173V	NCR1_uc002qic.2_Missense_Mutation_p.A173V|NCR1_uc002qie.2_Missense_Mutation_p.A173V|NCR1_uc002qid.2_Missense_Mutation_p.A78V|NCR1_uc002qif.2_Missense_Mutation_p.A78V|NCR1_uc010esj.2_Missense_Mutation_p.A66V	NM_004829	NP_004820	O76036	NCTR1_HUMAN	Homo sapiens natural cytotoxicity triggering receptor 1 (NCR1), transcript variant 1, mRNA.	173	Ig-like 2.				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	p.A173V(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		AAGGTCCAGGCGGAGTTCCCC	0.572													T	55420766	C	T	55420766	3	4	90	1	0	0	0	0	1	0	0	0	10313	768	27	1	532	1	NCR1	19	55420766	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08	21724596	55420766	3708217	59	5912											
HM13	81502	broad.mit.edu	37	chr20	30136902	30136902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagcatcgttggcgtctgGtacctgctgaggaaggtgag	8	9	16	8	2	1	2	0	2	1	0	2	3	1	3	1	4	4	5	1	4	2	2			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr20:30136902G>T	uc002wwc.3	+	4	639	c.525G>T	c.(523-525)tgG>tgT	p.W175C	HM13_uc002wwd.3_Missense_Mutation_p.W175C|HM13_uc002wwe.3_Missense_Mutation_p.W175C|HM13_uc002wwf.3_Missense_Mutation_p.W51C	NM_178581	NP_848696	Q8TCT9	HM13_HUMAN	Homo sapiens histocompatibility (minor) 13 (HM13), transcript variant 3, mRNA.	175					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding	p.V174I(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TTGGCGTCTGGTACCTGCTGA	0.577													T	30136902	G	T	30136902	3	4	90	1	0	0	0	0	1	0	0	0	7272	1270	44	4	610	4	HM13	20	30136902	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		30136902	32888618	60	5913											
HUNK	30811	broad.mit.edu	37	chr21	33296873	33296873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagatccagcagatgatcCgccaccccaatatcactcag	12	7	7	15	1	3	3	3	1	0	2	5	3	5	3	5	0	1	1	5	0	2	1			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr21:33296873C>T	uc002yph.3	+	1	715	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	119	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						GCAGATGATCCGCCACCCCAA	0.488													T	33296873	C	T	33296873	3	4	90	1	0	0	0	0	1	0	0	0	7516	652	23	1	361	1	HUNK	21	33296873	Missense_Mutation	SNP	C	TCGA-06-5413-01A-01D-1696-08		33296873	14833022	61	5914											
LZTR1	8216	broad.mit.edu	37	chr22	21344765	21344765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtattctctgggcaaagcGgagccaaaataaccaacaac	15	8	8	10	1	1	0	0	0	1	0	2	1	1	1	2	2	5	2	2	2	7	4			TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:21344765G>A	uc002zto.3	+	7	845	c.742G>A	c.(742-744)Gga>Aga	p.G248R	LZTR1_uc002ztn.3_Missense_Mutation_p.G207R|LZTR1_uc011ahy.2_Missense_Mutation_p.G229R|LZTR1_uc010gsr.1_Missense_Mutation_p.G119R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	248					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G248R(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGGCAAAGCGGAGCCAAAAT	0.562													A	21344765	G	A	21344765	3	1	90	1	0	0	0	0	1	0	0	0	9208	1117	39	1	772	1	LZTR1	22	21344765	Missense_Mutation	SNP	G	TCGA-06-5413-01A-01D-1696-08		21344765	29959801	62	5915											
DEPDC5	9681	broad.mit.edu	37	chr22	32198714	32198715	+	Frame_Shift_Ins	INS	-	-	C																															gataagcactacatcaaccgINScaactttgaccgaactgggc																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:32198714_32198715insC	uc011alu.2	+	14	1173_1174	c.971_972insC	c.(970-972)cgcfs	p.R324fs	DEPDC5_uc011als.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003als.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Frame_Shift_Ins_p.R324fs|DEPDC5_uc003alr.2_Frame_Shift_Ins_p.R324fs|DEPDC5_uc011alt.2_Frame_Shift_Ins_p.R296fs	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	324					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TACATCAACCGCAACTTTGACC	0.46													C	32198715	-	C	32198714	7	5	90	1	0	1	1	0	0	0	0	0	4481	1087	38	0	1025	0	DEPDC5	22	32198714	Frame_Shift_Ins	INS	-	TCGA-06-5413-01A-01D-1696-08	10853949	32198714	19105852	63	5916											
SBF1	6305	broad.mit.edu	37	chr22	50895482	50895483	+	In_Frame_Ins	INS	-	-	GAGGCC																															ctcggggtgcggtccgtctgINSgaggccgaggccgccatggg																										TCGA-06-5413-01A-01D-1696-08	TCGA-06-5413-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	72c13e51-0dd2-4e96-af37-aa471407436f	2c0bbd3a-7384-4957-9516-5d34f8280208	g.chr22:50895482_50895483insGAGGCC	uc003blh.3	-	28	4079_4080	c.3884_3885insGGCCTC	c.(3883-3885)tcc>tcGGCCTCc	p.1295_1295S>SAS	SBF1_uc003ble.3_5'Flank|SBF1_uc011arx.2_Intron	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1275	Myotubularin phosphatase.				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)		CGGTCCGTCTGGAGGCCGAGGC	0.678													GAGGCC	50895483	-	GAGGCC	50895482	7	5	90	1	0	1	1	0	0	0	0	0	13950	1335	47	0	1848	0	SBF1	22	50895482	In_Frame_Ins	INS	-	TCGA-06-5413-01A-01D-1696-08	18696768	50895482	409084	64	5917											
CYP4B1	1580	broad.mit.edu	37	chr1	47278284	47278284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgttcactgagtctacaCgtatcatgctggtgagctcc	7	12	10	12	2	3	2	2	2	1	0	4	2	4	2	2	1	3	4	2	1	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:47278284C>T	uc001cqn.4	+	3	568	c.484C>T	c.(484-486)Cgt>Tgt	p.R162C	CYP4B1_uc009vyl.1_5'UTR|CYP4B1_uc001cqm.4_Missense_Mutation_p.R162C|CYP4B1_uc009vym.3_Missense_Mutation_p.R147C|CYP4B1_uc010omk.2_5'UTR|CYP4B1_uc010oml.1_5'UTR	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	162					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGAGTCTACACGTATCATGCT	0.567													T	47278284	C	T	47278284	3	4	91	1	0	0	0	0	1	0	0	0	4218	536	19	1	498	1	CYP4B1	1	47278284	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		47278284	201972337	1	5918											
HRNR	388697	broad.mit.edu	37	chr1	152187706	152187706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctagagccgtgttgtccGtagccagaggagtgacctga	9	9	14	9	2	1	4	0	2	1	2	2	6	2	5	4	1	2	2	4	1	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:152187706G>A	uc001ezt.1	-	2	6475	c.6399C>T	c.(6397-6399)taC>taT	p.Y2133Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2133					keratinization		calcium ion binding|protein binding	p.Y2133*(2)|p.Y2133Y(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGTCCGTAGCCAGAGG	0.567													A	152187706	G	A	152187706	2	1	91	1	0	0	0	0	0	0	0	1	7414	1140	40	1		1	HRNR	1	152187706	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	104909422	152187706	97062915	2	5919											
S100A8	6279	broad.mit.edu	37	chr1	153362715	153362715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaccagacgtctgcacccTttttctgtcaagattgagga	10	12	9	10	1	3	4	1	2	2	2	3	5	3	5	2	1	2	1	2	1	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr1:153362715T>C	uc001fbs.3	-	2	316	c.146A>G	c.(145-147)aAg>aGg	p.K49R		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	49	EF-hand 2.				chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTGCACCCTTTTTCTGTCA	0.507													C	153362715	T	C	153362715	3	2	91	1	0	0	0	0	1	0	0	0	13877	1609	56	3	139	3	S100A8	1	153362715	Missense_Mutation	SNP	T	TCGA-06-5414-01A-01D-1486-08	1175009	153362715	95887906	3	5920											
CYTIP	9595	broad.mit.edu	37	chr2	158300464	158300464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtggagtaagagctataCgctggcccagcgcagaagtc	11	7	14	9	2	0	2	0	0	0	2	1	3	0	3	1	2	3	4	1	2	4	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:158300464C>T	uc002tzj.1	-	0	141	c.69G>A	c.(67-69)gcG>gcA	p.A23A	CYTIP_uc010zcl.1_Intron	NM_004288	NP_004279	O60759	CYTIP_HUMAN	Homo sapiens cytohesin 1 interacting protein (CYTIP), mRNA.	23					regulation of cell adhesion	cell cortex|early endosome	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AAGAGCTATACGCTGGCCCAG	0.512													T	158300464	C	T	158300464	2	4	91	1	0	0	0	0	0	0	0	1	4240	523	19	1		1	CYTIP	2	158300464	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		158300464	84898909	4	5921											
SGOL2	151246	broad.mit.edu	37	chr2	201434569	201434569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcaaaatgtatatggtttAgatgattcagaacatatttc	16	15	6	4	0	2	3	2	1	0	2	3	3	2	3	0	1	1	2	0	1	8	7			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:201434569A>G	uc002uvw.2	+	5	770	c.657A>G	c.(655-657)ttA>ttG	p.L219L	SGOL2_uc002uvv.4_Silent_p.L219L|SGOL2_uc010zhd.1_Silent_p.L219L|SGOL2_uc010zhe.1_Silent_p.L219L	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	219					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TATATGGTTTAGATGATTCAG	0.303													G	201434569	A	G	201434569	2	3	91	1	0	0	0	0	0	0	0	1	14310	417	15	3		3	SGOL2	2	201434569	Silent	SNP	A	TCGA-06-5414-01A-01D-1486-08	43134105	201434569	41764804	5	5922											
COL4A3	1285	broad.mit.edu	37	chr2	228118844	228118844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggacctcaagggggaaaAgggagacaagggagcaatgg	15	2	18	6	0	1	1	1	0	0	1	1	5	1	4	1	6	1	2	1	6	5	0			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228118844A>G	uc002vom.2	+	13	944	c.782A>G	c.(781-783)aAg>aGg	p.K261R	BC035052_uc002voq.1_Intron|AK056332_uc002vor.1_Intron	NM_000091	NP_000082	Q01955	CO4A3_HUMAN	Homo sapiens collagen, type IV, alpha 3 (Goodpasture antigen) (COL4A3), mRNA.	261	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		AAGGGGGAAAAGGGAGACAAG	0.433													G	228118844	A	G	228118844	3	3	91	1	0	0	0	0	1	0	0	0	3722	72	3	3	836	3	COL4A3	2	228118844	Missense_Mutation	SNP	A	TCGA-06-5414-01A-01D-1486-08	26684275	228118844	15080529	6	5923											
SPHKAP	80309	broad.mit.edu	37	chr2	228884217	228884217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctggactctgaacaacGacgattttggggagctcatt	10	11	10	10	2	3	1	1	1	2	0	3	5	3	3	1	3	3	1	1	3	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr2:228884217G>A	uc002vpq.2	-	6	1400	c.1353C>T	c.(1351-1353)gtC>gtT	p.V451V	SPHKAP_uc002vpp.2_Silent_p.V451V|SPHKAP_uc010zlx.1_Silent_p.V451V	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	451						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTGAACAACGACGATTTTGG	0.507													A	228884217	G	A	228884217	2	1	91	1	0	0	0	0	0	0	0	1	15144	1045	37	1		1	SPHKAP	2	228884217	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	765373	228884217	14315156	7	5924											
DPPA4	55211	broad.mit.edu	37	chr3	109050752	109050752	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttcaattgttggcacCaggcccgcagaatgtcccgg	8	9	11	13	2	2	1	2	0	0	1	3	1	3	1	3	3	1	4	3	3	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:109050752C>T	uc003dxq.4	-	2	360	c.305G>A	c.(304-306)tGg>tAg	p.W102*	DPPA4_uc011bho.2_Nonsense_Mutation_p.W102*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.W102*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	102						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TTGTTGGCACCAGGCCCGCAG	0.532													T	109050752	C	T	109050752	4	4	91	1	0	0	0	0	0	1	0	0	4775	595	21	2	629	2	DPPA4	3	109050752	Nonsense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		109050752	88971678	8	5925											
FNDC3B	64778	broad.mit.edu	37	chr3	172096080	172096080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtttatttcaatctacagagGacccagccacacctacaagg	13	9	7	12	0	2	1	1	0	1	1	2	2	2	2	3	2	3	1	3	2	5	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr3:172096080G>A	uc003fhy.3	+	23	3201	c.3029G>A	c.(3028-3030)gGa>gAa	p.G1010E	FNDC3B_uc003fhz.4_Missense_Mutation_p.G1010E	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	1010	Fibronectin type-III 8.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		ATCTACAGAGGACCCAGCCAC	0.448													A	172096080	G	A	172096080	3	1	91	1	0	0	0	0	1	0	0	0	6019	1174	41	2	3119	2	FNDC3B	3	172096080	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	63045328	172096080	25926350	9	5926											
CPZ	8532	broad.mit.edu	37	chr4	8621243	8621243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggagcccgacccgctcCgggcgcgcaggcagccctcg	5	2	14	20	7	0	0	0	0	0	0	2	2	1	1	5	3	2	3	5	3	0	0	rs143690050		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:8621243C>T	uc003glm.3	+	10	2032	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Missense_Mutation_p.R609W|CPZ_uc003gln.3_Missense_Mutation_p.R483W	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	620					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.R620L(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CGACCCGCTCCGGGCGCGCAG	0.667													T	8621243	C	T	8621243	3	4	91	1	0	0	0	0	1	0	0	0	3870	643	23	1	1900	1	CPZ	4	8621243	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		8621243	182533033	10	5927											
ADH1C	126	broad.mit.edu	37	chr4	100268910	100268910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtatttcaccttaatgcGaacttcatgagccttaggag	13	12	8	8	1	2	1	2	1	0	0	2	3	2	2	2	1	3	1	2	1	5	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:100268910G>A	uc021xqi.1	-	1		c.197C>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATGCGAACTTCATGA	0.338													A	100268910	G	A	100268910	3	1	91	1	0	0	0	0	1	0	0	0	309	1058	37	1	1047	1	ADH1C	4	100268910	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	91647667	100268910	90885366	11	5928											
LRBA	987	broad.mit.edu	37	chr4	151791721	151791725	+	Frame_Shift_Del	DEL	TTATG	TTATG	-																															aatcaggatctggatgctgtTtatgtatcacctgagtacca																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:151791721_151791725delTTATG	uc010ipj.3	-	19	2645_2649	c.2401_2405delCATAA	c.(2401-2406)cataaafs	p.H801fs	LRBA_uc003ilu.4_Frame_Shift_Del_p.H801fs	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	801						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding	p.I800V(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGATGCTGTTTATGTATCACCTGA	0.312													-	151791725	TTATG	-	151791721	7	5	91	1	0	1	0	1	0	0	0	0	9001	1841	64	0	6342	0	LRBA	4	151791721	Frame_Shift_Del	DEL	TTATG	TCGA-06-5414-01A-01D-1486-08	51522811	151791721	39362555	12	5929											
DCHS2	54798	broad.mit.edu	37	chr4	155249289	155249289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcattatttccttcatcaGgatcctttgcaaacacagtt	10	15	5	11	0	2	0	2	0	0	0	4	1	4	1	2	1	3	3	2	1	2	5	rs111557030	byFrequency	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr4:155249289G>A	uc003inw.2	-	11	2609	c.2609C>T	c.(2608-2610)cCt>cTt	p.P870L	DCHS2_uc003inx.2_Missense_Mutation_p.P1325L	NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	870	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P870H(2)|p.P1325H(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCTTCATCAGGATCCTTTGC	0.348													A	155249289	G	A	155249289	3	1	91	1	0	0	0	0	1	0	0	0	4322	1000	35	2	6293	2	DCHS2	4	155249289	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	3457568	155249289	35904987	13	5930											
ADAMTS16	170690	broad.mit.edu	37	chr5	5146447	5146447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctttattgtgcagaCgttgggaaagacaggcacta	10	11	12	8	1	0	2	0	0	0	2	1	3	1	3	1	3	1	4	1	3	3	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5146447C>T	uc003jdl.3	+	2	518	c.380C>T	c.(379-381)aCg>aTg	p.T127M	ADAMTS16_uc003jdk.1_Missense_Mutation_p.T127M|ADAMTS16_uc003jdj.1_Missense_Mutation_p.T127M	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	127					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.Q126*(1)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						ATTGTGCAGACGTTGGGAAAG	0.522													T	5146447	C	T	5146447	3	4	91	1	0	0	0	0	1	0	0	0	261	536	19	1	390	1	ADAMTS16	5	5146447	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		5146447	175768813	14	5931											
ADAMTS16	170690	broad.mit.edu	37	chr5	5190212	5190212	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgactggtctggatatatgTtcctggaagaatgagccctg	9	12	12	8	0	1	3	0	2	1	1	2	5	2	5	2	3	1	1	2	3	4	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:5190212T>C	uc003jdl.3	+	6	1314	c.1176T>C	c.(1174-1176)tgT>tgC	p.C392C	ADAMTS16_uc003jdk.1_Silent_p.C392C|ADAMTS16_uc003jdj.1_Silent_p.C392C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	392	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGGATATATGTTCCTGGAAGA	0.527													C	5190212	T	C	5190212	2	2	91	1	0	0	0	0	0	0	0	1	261	1731	60	3		3	ADAMTS16	5	5190212	Silent	SNP	T	TCGA-06-5414-01A-01D-1486-08	43765	5190212	175725048	15	5932											
RASGRF2	5924	broad.mit.edu	37	chr5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgccccagatccgttatgCcagcgtggagcgcctcttgg	6	9	13	13	3	1	1	0	0	1	1	2	2	2	2	5	2	4	1	5	2	1	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:80408515C>T	uc003kha.2	+	13	1975	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V	RASGRF2_uc011ctn.2_Non-coding_Transcript	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	642	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483													T	80408515	C	T	80408515	3	4	91	1	0	0	0	0	1	0	0	0	13161	739	26	2	1979	2	RASGRF2	5	80408515	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	75218303	80408515	100506745	16	5933											
PCDHGC5	56103	broad.mit.edu	37	chr5	140741338	140741338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcgctcagcgccaacGtgagcctgcgcgtgttagtg	5	7	14	15	7	1	1	1	1	0	0	1	1	1	1	3	0	4	2	3	0	2	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:140741338G>A	uc003ljs.2	+	0	1636	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.V546M|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCGCCAACGTGAGCCTGCG	0.682													A	140741338	G	A	140741338	3	1	91	1	0	0	0	0	1	0	0	0	11647	1145	40	1		1	PCDHGC5	5	140741338	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	60332823	140741338	40173922	17	5934											
TIMD4	91937	broad.mit.edu	37	chr5	156346519	156346519	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatgctgcacgtcattGaggacatttttactatctcc	8	15	6	12	1	2	1	1	1	1	0	4	2	3	2	2	1	3	2	2	1	2	6			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:156346519G>T	uc003lwh.2	-	8	1143	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L	TIMD4_uc010jii.2_Silent_p.L334L|TIMD4_uc003lwg.2_Silent_p.L64L	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	362						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCACGTCATTGAGGACATTTT	0.438													T	156346519	G	T	156346519	2	4	91	1	0	0	0	0	0	0	0	1	16003	1277	45	4		4	TIMD4	5	156346519	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	15605181	156346519	24568741	18	5935											
GABRA6	2559	broad.mit.edu	37	chr5	161116076	161116076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaatctggacgcctgacaCctttttcagaaatggtaaaa	15	11	7	8	1	2	2	1	1	1	1	2	3	2	3	2	2	0	1	2	2	5	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr5:161116076C>A	uc003lyu.2	+	3	685	c.347C>A	c.(346-348)aCc>aAc	p.T116N	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	116					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ACGCCTGACACCTTTTTCAGA	0.418										TCGA Ovarian(5;0.080)			A	161116076	C	A	161116076	3	1	91	1	0	0	0	0	1	0	0	0	6217	507	18	4	361	4	GABRA6	5	161116076	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	4769557	161116076	19799184	19	5936											
TMEM63B	55362	broad.mit.edu	37	chr6	44107303	44107303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgtgggcgtcctctcCgtaggcatcgtgctgcctgt	2	13	15	11	3	1	0	0	0	1	0	4	0	2	0	3	3	2	4	3	3	1	2	rs145356402		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:44107303C>T	uc003owr.3	+	6	571	c.507C>T	c.(505-507)tcC>tcT	p.S169S	TMEM63B_uc003owq.1_Silent_p.S169S|TMEM63B_uc010jyy.1_Silent_p.S72S|TMEM63B_uc003ows.3_Silent_p.S72S|TMEM63B_uc010jyz.3_5'Flank	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	169						integral to membrane	nucleotide binding|protein binding	p.S169S(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			GCGTCCTCTCCGTAGGCATCG	0.627													T	44107303	C	T	44107303	2	4	91	1	0	0	0	0	0	0	0	1	16291	639	23	1		1	TMEM63B	6	44107303	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		44107303	127007764	20	5937											
VNN2	8875	broad.mit.edu	37	chr6	133078573	133078573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgggggtcttgacacGgaatccagttcacctgaggg	8	9	14	10	1	2	2	1	2	1	0	3	3	3	3	3	4	0	1	3	4	1	2	rs149351884		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr6:133078573G>A	uc003qdt.3	-	1	337	c.326C>T	c.(325-327)cCg>cTg	p.P109L	VNN2_uc003qds.3_5'UTR|VNN2_uc010kgb.3_Missense_Mutation_p.P109L|VNN2_uc003qdv.3_Missense_Mutation_p.P56L	NM_004665	NP_004656	O95498	VNN2_HUMAN	Homo sapiens vanin 2 (VNN2), transcript variant 1, mRNA.	109	CN hydrolase.				cellular component movement|pantothenate metabolic process	anchored to membrane|plasma membrane	pantetheine hydrolase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(155;0.00237)|GBM - Glioblastoma multiforme(226;0.0267)		GTCTTGACACGGAATCCAGTT	0.418													A	133078573	G	A	133078573	3	1	91	1	0	0	0	0	1	0	0	0	17285	1116	39	1	1260	1	VNN2	6	133078573	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	88971270	133078573	38036494	21	5938											
GRM3	2913	broad.mit.edu	37	chr7	86468833	86468833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagacaaactgcattgcccGcatcttcgatggggtcaaga	12	8	10	11	2	2	2	1	0	1	2	3	3	2	2	1	2	3	2	1	2	3	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:86468833G>A	uc003uid.3	+	3	3102	c.2003G>A	c.(2002-2004)cGc>cAc	p.R668H	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.R540H|GRM3_uc010leh.3_Missense_Mutation_p.R260H	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	668					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCATTGCCCGCATCTTCGAT	0.537													A	86468833	G	A	86468833	3	1	91	1	0	0	0	0	1	0	0	0	6853	1087	38	1	2013	1	GRM3	7	86468833	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		86468833	72669830	22	5939											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123821	99123821	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaagagctacaatcagcgGgtgcacctcacccagcacca	12	4	11	14	1	2	1	2	0	0	1	2	2	2	2	3	2	5	3	3	2	3	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:99123821G>T	uc003uqv.3	+	5	1282	c.1158G>T	c.(1156-1158)cgG>cgT	p.R386R	ZKSCAN5_uc010lfx.3_Silent_p.R386R|ZKSCAN5_uc003uqw.3_Silent_p.R386R|ZKSCAN5_uc003uqx.3_Silent_p.R313R|ZKSCAN5_uc003uqy.3_Silent_p.R122R	NM_145102	NP_659570	Q9Y2L8	ZKSC5_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 5 (ZKSCAN5), transcript variant 2, mRNA.	386					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					ACAATCAGCGGGTGCACCTCA	0.537													T	99123821	G	T	99123821	2	4	91	1	0	0	0	0	0	0	0	1	17791	1219	43	4		4	ZKSCAN5	7	99123821	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	12654988	99123821	60014842	23	5940											
KEL	3792	broad.mit.edu	37	chr7	142658590	142658590	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcttctggagtgctcTgtgggaggaaccaagaggtg	7	10	15	9	0	3	1	0	0	3	1	4	4	3	4	2	4	2	1	2	4	2	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr7:142658590T>C	uc003wcb.3	-	3	292	c.82_splice	c.e3-1	p.S28_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	28					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TGGAGTGCTCTGTGGGAGGAA	0.552													C	142658590	T	C	142658590	5	2	91	1	0	0	0	0	0	0	1	0	8200	1594	55	3	2186	3	KEL	7	142658590	Splice_Site	SNP	T	TCGA-06-5414-01A-01D-1486-08	43534769	142658590	16480073	24	5941											
DLC1	10395	broad.mit.edu	37	chr8	12956045	12956045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatacagagttgaggcttggCcgatgtgagctctggaaact	10	10	14	7	1	1	3	0	2	1	1	1	6	1	4	1	3	3	3	1	3	2	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:12956045C>T	uc003wwm.2	-	9	3474	c.3030G>A	c.(3028-3030)cgG>cgA	p.R1010R	DLC1_uc003wwk.1_Silent_p.R573R|DLC1_uc003wwl.1_Silent_p.R607R|DLC1_uc011kxx.1_Silent_p.R499R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1010					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TGAGGCTTGGCCGATGTGAGC	0.468													T	12956045	C	T	12956045	2	4	91	1	0	0	0	0	0	0	0	1	4589	726	26	2		2	DLC1	8	12956045	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08		12956045	133407977	25	5942											
TUSC3	7991	broad.mit.edu	37	chr8	15519787	15519787	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatctataacaagactggTtgggccatggtgtctctggt	8	14	11	8	0	3	1	1	0	2	1	4	1	3	1	1	4	1	1	1	4	3	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:15519787T>G	uc003wwt.3	+	4	1034	c.690T>G	c.(688-690)ggT>ggG	p.G230G	TUSC3_uc003wwu.3_Silent_p.G230G	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	230					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		ACAAGACTGGTTGGGCCATGG	0.368													G	15519787	T	G	15519787	2	3	91	1	0	0	0	0	0	0	0	1	16880	1712	60	5		5	TUSC3	8	15519787	Silent	SNP	T	TCGA-06-5414-01A-01D-1486-08	2563742	15519787	130844235	26	5943											
SFTPC	6440	broad.mit.edu	37	chr8	22020183	22020183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggtggtcctcatcGtcgtggtgattgtgggagcc	3	13	18	7	2	1	1	1	1	0	0	4	2	2	2	2	6	1	0	2	6	0	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22020183G>A	uc003xaw.4	+	4	989	c.286G>A	c.(286-288)Gtc>Atc	p.V96I	SFTPC_uc003xax.4_Missense_Mutation_p.V47I|SFTPC_uc003xay.4_Missense_Mutation_p.V47I|SFTPC_uc003xaz.3_Missense_Mutation_p.V47I|SFTPC_uc011kza.1_Missense_Mutation_p.V47I|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	47	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGTCCTCATCGTCGTGGTGAT	0.597													A	22020183	G	A	22020183	3	1	91	1	0	0	0	0	1	0	0	0	14285	1145	40	1	145	1	SFTPC	8	22020183	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	6500396	22020183	124343839	27	5944											
PHYHIP	9796	broad.mit.edu	37	chr8	22079267	22079267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagcggccgtagggggagtCctgcgggggctggcccgtgt	3	6	20	12	4	0	0	0	0	0	0	1	1	1	1	4	6	2	2	4	6	1	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:22079267C>G	uc003xbk.4	-	5	1286	c.592G>C	c.(592-594)Gac>Cac	p.D198H	PHYHIP_uc003xbj.4_Missense_Mutation_p.D198H	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	198										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TAGGGGGAGTCCTGCGGGGGC	0.627													G	22079267	C	G	22079267	3	3	91	1	0	0	0	0	1	0	0	0	11943	855	30	4	404	4	PHYHIP	8	22079267	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	59084	22079267	124284755	28	5945											
PCMTD1	115294	broad.mit.edu	37	chr8	52733107	52733107	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggctgaggaataagctgaTtacccacaaatacgtaagtg	15	8	11	7	1	0	2	0	2	0	0	0	4	0	3	1	2	3	3	1	2	6	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:52733107T>C	uc003xqx.4	-	5	1219	c.878A>G	c.(877-879)aAt>aGt	p.N293S	PCMTD1_uc011ldm.2_Missense_Mutation_p.N163S|PCMTD1_uc011ldn.2_Missense_Mutation_p.N105S|PCMTD1_uc010lya.3_Missense_Mutation_p.N217S	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	293						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATAAGCTGATTACCCACAAA	0.408													C	52733107	T	C	52733107	3	2	91	1	0	0	0	0	1	0	0	0	11662	1493	52	3	199	3	PCMTD1	8	52733107	Missense_Mutation	SNP	T	TCGA-06-5414-01A-01D-1486-08	30653840	52733107	93630915	29	5946											
KCNB2	9312	broad.mit.edu	37	chr8	73848231	73848231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgctttgtctctcaataCgctgccggagctgcaggaaa	9	11	10	11	2	2	0	1	0	1	0	3	2	2	2	1	2	5	4	1	2	3	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr8:73848231C>T	uc003xzb.3	+	2	1229	c.641C>T	c.(640-642)aCg>aTg	p.T214M		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	214					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCTCTCAATACGCTGCCGGAG	0.478													T	73848231	C	T	73848231	3	4	91	1	0	0	0	0	1	0	0	0	8071	536	19	1	647	1	KCNB2	8	73848231	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	21115124	73848231	72515791	30	5947											
KCNK18	338567	broad.mit.edu	37	chr10	118969028	118969028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatggctacatctaccccGtcaccaggcttggcaagtac	9	9	9	14	1	2	0	1	0	1	0	2	0	2	0	3	3	3	5	3	3	5	5	rs141958329		TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr10:118969028G>A	uc010qsr.2	+	2	373	c.373G>A	c.(373-375)Gtc>Atc	p.V125I		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	125						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CATCTACCCCGTCACCAGGCT	0.507													A	118969028	G	A	118969028	3	1	91	1	0	0	0	0	1	0	0	0	8123	1145	40	1	383	1	KCNK18	10	118969028	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		118969028	16565719	31	5948											
ZNF215	7762	broad.mit.edu	37	chr11	6964441	6964441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaacctgaattcattgcGtaaaggtggtttctatatgt	11	15	10	5	1	2	1	1	1	1	0	2	2	2	2	1	3	2	2	1	3	7	7			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:6964441G>A	uc001mey.3	+	4	1199	c.611G>A	c.(610-612)cGt>cAt	p.R204H	ZNF215_uc010raw.2_Intron|ZNF215_uc010rax.2_Intron|ZNF215_uc001mez.1_Missense_Mutation_p.R204H	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	204	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AATTCATTGCGTAAAGGTGGT	0.418													A	6964441	G	A	6964441	3	1	91	1	0	0	0	0	1	0	0	0	17872	1145	40	1	621	1	ZNF215	11	6964441	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		6964441	128042075	32	5949											
OLFML1	283298	broad.mit.edu	37	chr11	7509544	7509544	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgactacatacaataccttCgagaggctgacgagtgcatc	12	10	9	10	2	0	3	0	2	0	1	2	5	0	3	1	1	4	2	1	1	4	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:7509544C>T	uc001mfi.3	+	1	823	c.316C>T	c.(316-318)Cga>Tga	p.R106*	BC040358_uc001mff.1_Intron|OLFML1_uc010raz.2_Intron|OLFML1_uc010rba.2_Nonsense_Mutation_p.R106*	NM_198474	NP_940876	Q6UWY5	OLFL1_HUMAN	Homo sapiens olfactomedin-like 1 (OLFML1), mRNA.	106						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(3)|prostate(2)	24				Epithelial(150;6.96e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ACAATACCTTCGAGAGGCTGA	0.478													T	7509544	C	T	7509544	4	4	91	1	0	0	0	0	0	1	0	0	10932	876	31	1	322	1	OLFML1	11	7509544	Nonsense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	545103	7509544	127496972	33	5950											
OR4P4	81300	broad.mit.edu	37	chr11	55406751	55406751	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgtcaaatactcctGaaaagaaatcaacttttctg	13	14	7	7	0	3	2	2	1	1	1	4	2	4	2	1	1	2	1	1	1	6	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:55406751G>T	uc010rij.2	+	0	918	c.918G>T	c.(916-918)ctG>ctT	p.L306L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L306L(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAATACTCCTGAAAAGAAATC	0.398													T	55406751	G	T	55406751	2	4	91	1	0	0	0	0	0	0	0	1	11156	1277	45	4		4	OR4P4	11	55406751	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	47897207	55406751	79599765	34	5951											
LRRC55	219527	broad.mit.edu	37	chr11	56950136	56950136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaagtggctgcgaaacCggatccagcgctgtacagca	10	7	13	11	3	0	1	0	1	0	0	1	3	1	2	2	2	6	5	2	2	3	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:56950136C>T	uc001njl.2	+	0	916	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	227	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GCTGCGAAACCGGATCCAGCG	0.617													T	56950136	C	T	56950136	3	4	91	1	0	0	0	0	1	0	0	0	9081	643	23	1	771	1	LRRC55	11	56950136	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	1543385	56950136	78056380	35	5952											
LRP5	4041	broad.mit.edu	37	chr11	68206026	68206026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctattttgtgtgccaGcgcgtggtgtgccagcgcta	4	13	15	9	3	1	0	0	0	1	0	1	0	1	0	2	2	4	1	2	2	2	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:68206026G>A	uc001ont.3	+	19	4299	c.4224G>A	c.(4222-4224)caG>caA	p.Q1408Q	LRP5_uc009ysg.3_Silent_p.Q818Q	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1408					adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTGTGTGCCAGCGCGTGGTGT	0.652													A	68206026	G	A	68206026	2	1	91	1	0	0	0	0	0	0	0	1	9030	962	34	2		2	LRP5	11	68206026	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08	11255890	68206026	66800490	36	5953											
KDELC2	143888	broad.mit.edu	37	chr11	108350192	108350192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatatctgtaagcagccaCggtcccatccacatttactt	10	12	7	12	1	1	0	0	0	1	0	3	1	3	1	3	2	3	2	3	2	3	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:108350192C>T	uc001pkj.2	-	5	1195	c.1129G>A	c.(1129-1131)Gtg>Atg	p.V377M	KDELC2_uc001pki.2_Missense_Mutation_p.V321M	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	377						endoplasmic reticulum lumen		p.T376T(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TAAGCAGCCACGGTCCCATCC	0.408													T	108350192	C	T	108350192	3	4	91	1	0	0	0	0	1	0	0	0	8176	536	19	1	406	1	KDELC2	11	108350192	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	40144166	108350192	26656324	37	5954											
USP2	9099	broad.mit.edu	37	chr11	119229846	119229846	+	Splice_Site	DEL	T	T	-																															ctcctgagcatcctgctgacTgaacccaaaggaaggagggt																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr11:119229846delT	uc001pwm.4	-	6	1357	c.1062_splice	c.e6-1	p.N354_splice	USP2_uc001pwl.4_Splice_Site_p.N145_splice|USP2_uc001pwn.4_Splice_Site_p.N111_splice	NM_004205	NP_004196	O75604	UBP2_HUMAN	Homo sapiens ubiquitin specific peptidase 2 (USP2), transcript variant 1, mRNA.	354					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCCTGCTGACTGAACCCAAAG	0.527													-	119229846	T	-	119229846	8	5	91	1	0	1	0	1	0	0	1	0	17153	1594	55	0	789	0	USP2	11	119229846	Splice_Site	DEL	T	TCGA-06-5414-01A-01D-1486-08	10879654	119229846	15776670	38	5955											
DIAPH3	81624	broad.mit.edu	37	chr13	60545255	60545256	+	Missense_Mutation	DNP	GA	GA	AT																															agttccaccttctttagaggGaggcaaaggaatattacaat																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:60545255_60545256GA>AT	uc001vht.3	-	15	1908_1909	c.1689_1690TC>AT	c.(1687-1692)cctccc>ccATcc	p.P564S	DIAPH3_uc001vhu.3_Missense_Mutation_p.P301S|DIAPH3_uc001vhv.3_Missense_Mutation_p.P142S	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN	Homo sapiens diaphanous homolog 3 (Drosophila) (DIAPH3), transcript variant 1, mRNA.	564	FH1.|Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCTTTAGAGGGAGGCAAAGGAA	0.495													AT	60545256	GA	AT	60545255	3	1	91	1	0	0	0	0	1	0	0	0	4559	1174	41	2	1963	2	DIAPH3	13	60545255	Missense_Mutation	DNP	GA	TCGA-06-5414-01A-01D-1486-08		60545255	54624623	39	5956											
SLITRK1	114798	broad.mit.edu	37	chr13	84455310	84455310	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttgttgttgttgatgtgCagccttttcaccagctgcag	6	16	10	9	0	2	1	1	1	1	0	2	1	2	1	2	0	4	6	2	0	0	6			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr13:84455310C>A	uc001vlk.3	-	0	1219	c.333G>T	c.(331-333)ctG>ctT	p.L111L		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	111						integral to membrane				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TGTTGATGTGCAGCCTTTTCA	0.433													A	84455310	C	A	84455310	2	1	91	1	0	0	0	0	0	0	0	1	14836	697	25	4		4	SLITRK1	13	84455310	Silent	SNP	C	TCGA-06-5414-01A-01D-1486-08	23910055	84455310	30714568	40	5957											
SLC39A9	55334	broad.mit.edu	37	chr14	69920026	69920026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctggttgtccatgctgcaGgtagggttggattgcagtgg	5	13	17	6	0	1	0	0	0	1	0	2	1	2	1	1	5	3	6	1	5	1	4			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr14:69920026G>A	uc001xle.3	+	4	1174	c.472_splice	c.e4+1	p.A158_splice	SLC39A9_uc021rvg.1_Splice_Site_p.A40_splice|SLC39A9_uc021rvh.1_Splice_Site_p.A40_splice|SLC39A9_uc001xlf.4_Splice_Site_p.A158_splice|SLC39A9_uc010aqx.3_Intron|SLC39A9_uc001xlg.4_Splice_Site	NM_018375	NP_060845	Q9NUM3	S39A9_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 9 (SLC39A9), transcript variant 1, mRNA.	158					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CCATGCTGCAGGTAGGGTTGG	0.463													A	69920026	G	A	69920026	3	1	91	1	0	0	0	0	1	0	0	0	14719	1014	35	2	486	2	SLC39A9	14	69920026	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		69920026	37429514	41	5958											
TCF12	6938	broad.mit.edu	37	chr15	57524624	57524624	+	Frame_Shift_Del	DEL	G	G	-																															caaccttcattcacatgaccGcttggtaggctataacacgt																										TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr15:57524624delG	uc002aec.3	+	9	1105	c.821delG	c.(820-822)cgcfs	p.R274fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.R326fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.R270fs|TCF12_uc002aea.3_Frame_Shift_Del_p.R274fs|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Frame_Shift_Del_p.R274fs|TCF12_uc002aed.3_Frame_Shift_Del_p.R274fs|TCF12_uc010ugo.2_Intron|TCF12_uc002aee.3_Frame_Shift_Del_p.R104fs|TCF12_uc010bft.3_Frame_Shift_Del_p.R104fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	274					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGC	0.443			T	TEC	extraskeletal myxoid chondrosarcoma								-	57524624	G	-	57524624	7	5	91	1	0	1	0	1	0	0	0	0	15787	1087	38	0	928	0	TCF12	15	57524624	Frame_Shift_Del	DEL	G	TCGA-06-5414-01A-01D-1486-08		57524624	45006768	42	5959											
KRT13	3860	broad.mit.edu	37	chr17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctccacgctctggcGcagggccagctcattctcat	5	9	11	16	3	3	0	2	0	2	0	6	0	4	0	3	3	1	3	3	3	0	1			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr17:39659673G>A	uc002hwu.1	-	2	664	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_uc002hwv.1_Missense_Mutation_p.R201C|KRT13_uc010wfr.2_Missense_Mutation_p.R94C|KRT13_uc010cxo.3_Missense_Mutation_p.R201C|KRT13_uc021txk.1_Missense_Mutation_p.R94C	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R201H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483													A	39659673	G	A	39659673	3	1	91	1	0	0	0	0	1	0	0	0	8508	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		39659673	41535537	43	5960											
CNDP2	55748	broad.mit.edu	37	chr18	72178127	72178127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctagacgagctgatttttgCccggaaagacacattcttta	11	12	8	10	2	1	3	0	1	1	2	1	5	1	4	2	1	2	1	2	1	3	6			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr18:72178127C>T	uc002llm.2	+	5	795	c.536C>T	c.(535-537)gCc>gTc	p.A179V	CNDP2_uc002lln.2_Missense_Mutation_p.A95V	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	179						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTGATTTTTGCCCGGAAAGAC	0.527													T	72178127	C	T	72178127	3	4	91	1	0	0	0	0	1	0	0	0	3625	739	26	2	554	2	CNDP2	18	72178127	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		72178127	5899121	44	5961											
ATG4D	84971	broad.mit.edu	37	chr19	10657548	10657548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagggcatgggcctgggccCccctgagctgtcagggtcag	5	6	17	13	1	2	1	2	1	0	0	2	2	2	1	4	4	1	2	4	4	0	0			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:10657548C>T	uc002mov.3	+	3	647	c.527C>T	c.(526-528)cCc>cTc	p.P176L	ATG4D_uc010xlg.2_Missense_Mutation_p.P199L|ATG4D_uc010xlh.2_Missense_Mutation_p.P113L|ATG4D_uc010dxh.3_Non-coding_Transcript|ATG4D_uc010dxi.3_Intron|ATG4D_uc010dxj.3_Intron	NM_032885	NP_116274	Q86TL0	ATG4D_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog D (S. cerevisiae) (ATG4D), mRNA.	176					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GGCCTGGGCCCCCCTGAGCTG	0.657													T	10657548	C	T	10657548	3	4	91	1	0	0	0	0	1	0	0	0	1104	623	22	2	541	2	ATG4D	19	10657548	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08		10657548	48471435	45	5962											
NWD1	284434	broad.mit.edu	37	chr19	16883984	16883984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagactccatttcttcGccacctcacatccagcactg	8	10	6	17	1	2	1	1	0	1	1	5	1	4	1	5	1	1	1	5	1	0	2	rs139109286	by1000genomes	TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:16883984G>A	uc002neu.4	+	10	2880	c.2458G>A	c.(2458-2460)Gcc>Acc	p.A820T	NWD1_uc002net.4_Missense_Mutation_p.A685T|NWD1_uc002nev.4_Missense_Mutation_p.A614T|NWD1_uc021uqg.1_Missense_Mutation_p.A685T	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	820							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCATTTCTTCGCCACCTCACA	0.577													A	16883984	G	A	16883984	3	1	91	1	0	0	0	0	1	0	0	0	10857	1087	38	1	2079	1	NWD1	19	16883984	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	6226436	16883984	42244999	46	5963											
MEGF8	1954	broad.mit.edu	37	chr19	42879827	42879827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcactgtcctctttggcGtgcagcccaaattcaccaac	8	9	8	16	2	2	0	1	0	1	0	3	0	3	0	4	1	3	2	4	1	2	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:42879827G>A	uc002otl.4	+	40	7872	c.7237G>A	c.(7237-7239)Gtg>Atg	p.V2413M	MEGF8_uc002otm.4_Missense_Mutation_p.V2021M|MEGF8_uc002otn.4_Missense_Mutation_p.V74M	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	2480	Laminin EGF-like 4.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCTCTTTGGCGTGCAGCCCAA	0.637													A	42879827	G	A	42879827	3	1	91	1	0	0	0	0	1	0	0	0	9538	1145	40	1	7399	1	MEGF8	19	42879827	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08	25995843	42879827	16249156	47	5964											
ZNF665	79788	broad.mit.edu	37	chr19	53668521	53668521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgagtgaaaaccttgaCgcattcattacatttgaaag	15	12	7	7	1	1	4	1	4	0	0	1	4	1	4	1	0	3	1	1	0	5	5			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr19:53668521C>T	uc010eqm.1	-	3	1322	c.1222G>A	c.(1222-1224)Gtc>Atc	p.V408I		NM_024733	NP_079009	Q9H7R5	ZN665_HUMAN	Homo sapiens zinc finger protein 665 (ZNF665), mRNA.	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V408I(1)|p.V343I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AAAACCTTGACGCATTCATTA	0.398													T	53668521	C	T	53668521	3	4	91	1	0	0	0	0	1	0	0	0	18174	536	19	1	818	1	ZNF665	19	53668521	Missense_Mutation	SNP	C	TCGA-06-5414-01A-01D-1486-08	10788694	53668521	5460462	48	5965											
HCK	3055	broad.mit.edu	37	chr20	30674471	30674471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtggcagtgaagacgatGaagccagggagcatgtcggt	12	6	17	6	2	0	3	0	2	0	1	1	5	0	4	1	4	2	2	1	4	3	0			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr20:30674471G>A	uc002wxh.3	+	8	1113	c.876G>A	c.(874-876)atG>atA	p.M292I	HCK_uc010gdy.3_Missense_Mutation_p.M272I|HCK_uc021wbv.1_Missense_Mutation_p.M271I|HCK_uc002wxi.3_Missense_Mutation_p.M270I	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	292	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGAAGACGATGAAGCCAGGGA	0.577													A	30674471	G	A	30674471	3	1	91	1	0	0	0	0	1	0	0	0	7049	1290	45	2	916	2	HCK	20	30674471	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		30674471	32351049	49	5966											
PPARA	5465	broad.mit.edu	37	chr22	46594404	46594404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagatttcgcaatccatcGgcgaggatagttctggaagc	12	9	12	8	3	1	1	0	0	1	1	4	5	2	3	1	3	1	2	1	3	4	3			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chr22:46594404G>A	uc003bhb.1	+	1	247	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	PPARA_uc003bgw.1_Missense_Mutation_p.G42S|PPARA_uc003bgx.1_Missense_Mutation_p.G42S|PPARA_uc010hab.1_Missense_Mutation_p.G42S|PPARA_uc003bgy.1_Non-coding_Transcript|PPARA_uc003bgz.1_Non-coding_Transcript|PPARA_uc003bha.3_Missense_Mutation_p.G42S|PPARA_uc010hac.1_5'UTR	NM_005036	NP_005027	Q07869	PPARA_HUMAN	Homo sapiens peroxisome proliferator-activated receptor alpha (PPARA), transcript variant 5, mRNA.	42					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCAATCCATCGGCGAGGATAG	0.527													A	46594404	G	A	46594404	3	1	91	1	0	0	0	0	1	0	0	0	12374	1116	39	1	126	1	PPARA	22	46594404	Missense_Mutation	SNP	G	TCGA-06-5414-01A-01D-1486-08		46594404	4710162	50	5967											
CNKSR2	22866	broad.mit.edu	37	chrX	21508621	21508621	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacatcatatccctgtcGtcagatcctctggtttcaca	9	12	6	14	1	4	1	3	0	1	1	7	2	6	1	3	1	0	1	3	1	1	2			TCGA-06-5414-01A-01D-1486-08	TCGA-06-5414-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7aa16ff4-169a-4206-83d1-a2495fb56f62	0489fea8-8d1b-4258-b083-e6f646246abc	g.chrX:21508621G>T	uc004czx.2	+	5	1086	c.606G>T	c.(604-606)tcG>tcT	p.S202S	CNKSR2_uc004czw.3_Silent_p.S202S|CNKSR2_uc011mjn.2_Silent_p.S202S|CNKSR2_uc011mjo.2_Silent_p.S202S	NM_014927	NP_055742	Q8WXI2	CNKR2_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 2 (CNKSR2), transcript variant 1, mRNA.	202					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						TATCCCTGTCGTCAGATCCTC	0.398													T	21508621	G	T	21508621	2	4	91	1	0	0	0	0	0	0	0	1	3638	1132	40	4		4	CNKSR2	23	21508621	Silent	SNP	G	TCGA-06-5414-01A-01D-1486-08		21508621	133761939	51	5968											
MIB2	142678	broad.mit.edu	37	chr1	1563750	1563750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccctcaacaaccacCgcgaggtggcccagatcctc	8	6	10	17	2	1	1	1	0	0	1	3	2	2	1	5	3	3	1	5	3	2	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:1563750C>T	uc001agg.3	+	14	2329	c.2284C>T	c.(2284-2286)Cgc>Tgc	p.R762C	MIB2_uc001agh.3_Missense_Mutation_p.R748C|MIB2_uc001agi.3_Missense_Mutation_p.R758C|MIB2_uc001agj.3_Missense_Mutation_p.R546C|MIB2_uc001agk.3_Missense_Mutation_p.R697C|MIB2_uc001agl.2_Missense_Mutation_p.R661C|MIB2_uc001agm.3_Missense_Mutation_p.R582C|MIB2_uc010nyq.2_Missense_Mutation_p.R661C|MIB2_uc009vkh.3_Missense_Mutation_p.R511C|MIB2_uc001agn.3_Missense_Mutation_p.R337C|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	705					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CAACAACCACCGCGAGGTGGC	0.692													T	1563750	C	T	1563750	3	4	92	1	0	0	0	0	1	0	0	0	9642	652	23	1	2342	1	MIB2	1	1563750	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		1563750	247686871	1	5969											
PLEKHG5	57449	broad.mit.edu	37	chr1	6537601	6537601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcaccttgtgggggaaGgtcgaagcggacatgcccat	8	8	15	10	2	1	0	1	0	0	0	2	3	1	2	2	4	3	1	2	4	2	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:6537601G>C	uc001anp.1	-	2	760	c.262C>G	c.(262-264)Ctt>Gtt	p.L88V	PLEKHG5_uc001ann.1_Missense_Mutation_p.L48V|PLEKHG5_uc001ano.1_Missense_Mutation_p.L67V|PLEKHG5_uc001anq.1_Missense_Mutation_p.L88V|PLEKHG5_uc009vma.1_5'UTR|PLEKHG5_uc010nzr.1_Missense_Mutation_p.L80V|PLEKHG5_uc001ank.1_Missense_Mutation_p.L11V|PLEKHG5_uc009vmb.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anl.1_Missense_Mutation_p.L11V|PLEKHG5_uc001anm.1_Missense_Mutation_p.L11V	NM_198681	NP_065682	O94827	PKHG5_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 5 (PLEKHG5), transcript variant 2, mRNA.	67					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		TGTGGGGGAAGGTCGAAGCGG	0.617													C	6537601	G	C	6537601	3	2	92	1	0	0	0	0	1	0	0	0	12150	1000	35	4	3069	4	PLEKHG5	1	6537601	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	4973851	6537601	242713020	2	5970											
CD53	963	broad.mit.edu	37	chr1	111435024	111435024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatccacaacaacttcGgagtgctcttccataacctc	10	11	6	14	1	1	1	0	1	1	0	5	2	3	2	3	1	5	2	3	1	3	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:111435024G>A	uc001dzw.3	+	3	292	c.121G>A	c.(121-123)Gga>Aga	p.G41R	CD53_uc001dzx.3_Missense_Mutation_p.G41R|CD53_uc010owa.2_Missense_Mutation_p.G41R	NM_001040033	NP_001035122	P19397	CD53_HUMAN	Homo sapiens CD53 molecule (CD53), transcript variant 1, mRNA.	41					signal transduction	integral to membrane|plasma membrane		p.F40F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	17		all_cancers(81;1.06e-05)|all_epithelial(167;1.95e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0264)|Colorectal(144;0.0375)|all cancers(265;0.11)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.141)|LUSC - Lung squamous cell carcinoma(189;0.144)		CAACAACTTCGGAGTGCTCTT	0.507													A	111435024	G	A	111435024	3	1	92	1	0	0	0	0	1	0	0	0	3053	1117	39	1	127	1	CD53	1	111435024	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	104897423	111435024	137815597	3	5971											
HSD3B2	3284	broad.mit.edu	37	chr1	119985580	119985580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagagagcctgccaggaCgtgtcggtcgtcatccacac	9	7	12	13	3	1	2	1	1	0	1	4	4	2	3	3	2	2	0	3	2	1	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:119985580C>T	uc001ehu.3	+	3	559	c.387C>T	c.(385-387)gaC>gaT	p.D129D				P26439	3BHS2_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2 (HSD3B2), transcript variant 1, mRNA.	0			G -> R (in AH2; nonsalt-wasting form).		androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	CCTGCCAGGACGTGTCGGTCG	0.507													T	119985580	C	T	119985580	2	4	92	1	0	0	0	0	0	0	0	1	7446	551	19	1		1	HSD3B2	1	119985580	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	8550556	119985580	129265041	4	5972											
HRNR	388697	broad.mit.edu	37	chr1	152188024	152188024	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gctccatgttggccacagctCgatgactgtcctgatgcaga	8	10	11	12	1	0	3	0	2	0	1	3	4	2	3	3	1	2	4	3	1	0	1	rs142170860		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:152188024C>G	uc001ezt.1	-	2	6157	c.6081G>C	c.(6079-6081)tcG>tcC	p.S2027S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2027					keratinization		calcium ion binding|protein binding	p.S2027S(4)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACAGCTCGATGACTGTC	0.562													G	152188024	C	G	152188024	2	3	92	1	0	0	0	0	0	0	0	1	7414	871	31	4		4	HRNR	1	152188024	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	32202444	152188024	97062597	5	5973											
NUP210L	91181	broad.mit.edu	37	chr1	154090286	154090286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctgacctgcagtcaccactCctttcgtggttactatgacc	7	12	7	15	1	1	2	1	2	0	0	3	2	2	2	5	1	2	2	5	1	2	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:154090286C>T	uc001fdw.3	-	11	1607	c.1535G>A	c.(1534-1536)gGa>gAa	p.G512E	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.G512E	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	512						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			AGTCACCACTCCTTTCGTGGT	0.433													T	154090286	C	T	154090286	3	4	92	1	0	0	0	0	1	0	0	0	10837	855	30	2	4247	2	NUP210L	1	154090286	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	1902262	154090286	95160335	6	5974											
TIPRL	261726	broad.mit.edu	37	chr1	168165850	168165850	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgatggggtgcttatCagaatgaatgacacgagact	14	10	12	5	1	1	6	1	3	0	3	1	7	1	6	0	2	1	1	0	2	4	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:168165850C>A	uc001gfg.3	+	4	727	c.582C>A	c.(580-582)atC>atA	p.I194I		NM_152902	NP_690866	O75663	TIPRL_HUMAN	Homo sapiens TIP41, TOR signaling pathway regulator-like (S. cerevisiae) (TIPRL), transcript variant 1, mRNA.	194	Interaction with PPP2CA.				DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					GGGTGCTTATCAGAATGAATG	0.323													A	168165850	C	A	168165850	2	1	92	1	0	0	0	0	0	0	0	1	16026	816	29	4		4	TIPRL	1	168165850	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	14075564	168165850	81084771	7	5975											
USH2A	7399	broad.mit.edu	37	chr1	215933077	215933077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagcaagtttccattaCgactcaattgatattgagaa	16	11	8	6	1	1	2	1	2	0	1	2	5	2	3	1	1	2	2	1	1	7	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:215933077C>T	uc001hku.1	-	56	11543	c.11156G>A	c.(11155-11157)cGt>cAt	p.R3719H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3719	Fibronectin type-III 22.				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)		GTTTCCATTACGACTCAATTG	0.408										HNSCC(13;0.011)			T	215933077	C	T	215933077	3	4	92	1	0	0	0	0	1	0	0	0	17138	536	19	1	4516	1	USH2A	1	215933077	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	47767227	215933077	33317544	8	5976											
EPHX1	2052	broad.mit.edu	37	chr1	226027611	226027611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcctgggacagcgtttCgggaggtttcttggcctcac	4	12	12	13	2	2	0	1	0	1	0	5	2	4	2	3	4	1	2	3	4	0	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:226027611C>T	uc001hpk.3	+	5	884	c.804C>T	c.(802-804)ttC>ttT	p.F268F	EPHX1_uc001hpl.3_Silent_p.F268F	NM_001136018	NP_001129490	P07099	HYEP_HUMAN	Homo sapiens epoxide hydrolase 1, microsomal (xenobiotic) (EPHX1), transcript variant 2, mRNA.	268					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.R267C(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GACAGCGTTTCGGGAGGTTTC	0.552													T	226027611	C	T	226027611	2	4	92	1	0	0	0	0	0	0	0	1	5220	883	31	1		1	EPHX1	1	226027611	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	10094534	226027611	23223010	9	5977											
RYR2	6262	broad.mit.edu	37	chr1	237838075	237838075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgccttctattgagaaacGatttgcctatagtttcctcc	9	14	6	12	2	1	1	0	1	1	1	3	3	3	1	4	0	2	1	4	0	4	7			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr1:237838075G>A	uc001hyl.1	+	59	8879	c.8759G>A	c.(8758-8760)cGa>cAa	p.R2920Q	RYR2_uc010pxz.1_5'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2920	4 X approximate repeats.|Modulator (Potential).				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATTGAGAAACGATTTGCCTAT	0.423													A	237838075	G	A	237838075	3	1	92	1	0	0	0	0	1	0	0	0	13860	1058	37	1	8997	1	RYR2	1	237838075	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	11810464	237838075	11412546	10	5978											
SNTG2	54221	broad.mit.edu	37	chr2	1271318	1271318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccttccaaagagccaCgttcatggaagttcagagaa	14	8	10	9	1	2	2	2	0	0	2	4	5	4	3	3	1	1	2	3	1	4	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:1271318C>T	uc002qwq.3	+	13	1388	c.1259C>T	c.(1258-1260)aCg>aTg	p.T420M	SNTG2_uc010ewi.3_Missense_Mutation_p.T293M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	420	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAAAGAGCCACGTTCATGGAA	0.527													T	1271318	C	T	1271318	3	4	92	1	0	0	0	0	1	0	0	0	14969	536	19	1	1313	1	SNTG2	2	1271318	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		1271318	241928055	11	5979											
TTN	7273	broad.mit.edu	37	chr2	179425883	179425883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcattccttgcaaaaacccGgaattcataacgctgatctt	13	11	6	11	2	2	1	1	1	1	0	3	2	3	2	2	1	4	3	2	1	4	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:179425883G>A	uc021vsy.1	-	274	77497	c.77272C>T	c.(77272-77274)Cgg>Tgg	p.R25758W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R19453W|TTN_uc021vta.1_Missense_Mutation_p.R19386W|TTN_uc021vtb.1_Missense_Mutation_p.R19261W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	26685	Fibronectin type-III 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAAAACCCGGAATTCATAA	0.403													A	179425883	G	A	179425883	3	1	92	1	0	0	0	0	1	0	0	0	16837	1115	39	1	23151	1	TTN	2	179425883	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	178154565	179425883	63773490	12	5980											
NMUR1	10316	broad.mit.edu	37	chr2	232393454	232393454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtagtagttggtaggcGtgcgcatggccttgtggcgc	6	10	18	7	3	0	1	0	0	0	1	0	1	0	1	1	5	1	5	1	5	3	5	rs143358901	by1000genomes	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr2:232393454G>A	uc002vry.4	-	1	388	c.278C>T	c.(277-279)aCg>aTg	p.T93M		NM_006056	NP_006047	Q9HB89	NMUR1_HUMAN	Homo sapiens neuromedin U receptor 1 (NMUR1), mRNA.	93					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GTTGGTAGGCGTGCGCATGGC	0.612													A	232393454	G	A	232393454	3	1	92	1	0	0	0	0	1	0	0	0	10582	1145	40	1	1010	1	NMUR1	2	232393454	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	52967571	232393454	10805919	13	5981											
PTPRG	5793	broad.mit.edu	37	chr3	62188854	62188854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctttccagcccacagCgtctcctgcctcttcagccg	5	10	7	19	2	3	1	1	1	2	0	5	1	4	1	6	0	4	0	6	0	0	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:62188854C>T	uc003dlb.3	+	11	2104	c.1385C>T	c.(1384-1386)gCg>gTg	p.A462V	PTPRG_uc003dlc.3_Missense_Mutation_p.A462V	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	462					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)		CAGCCCACAGCGTCTCCTGCC	0.547													T	62188854	C	T	62188854	3	4	92	1	0	0	0	0	1	0	0	0	12890	768	27	1	1431	1	PTPRG	3	62188854	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		62188854	135833576	14	5982											
STAG1	10274	broad.mit.edu	37	chr3	136076625	136076625	+	Frame_Shift_Del	DEL	A	A	-																															ttagtacttcaagaaaagccAgattaggaggtggatactct																										TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr3:136076625delA	uc003era.1	-	27	3294	c.3002delT	c.(3001-3003)ctgfs	p.L1001fs	STAG1_uc003erb.1_Frame_Shift_Del_p.L1001fs	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN	Homo sapiens stromal antigen 1 (STAG1), mRNA.	1001					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAGAAAAGCCAGATTAGGAGG	0.333													-	136076625	A	-	136076625	7	5	92	1	0	1	0	1	0	0	0	0	15338	188	7	0	802	0	STAG1	3	136076625	Frame_Shift_Del	DEL	A	TCGA-06-5415-01A-01D-1486-08	73887771	136076625	61945805	15	5983											
BMP3	651	broad.mit.edu	37	chr4	81952456	81952456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccatggctggggcgagcagGctgctctttctgtggctggg	3	10	18	10	1	2	0	0	0	2	0	2	1	2	0	1	6	2	5	1	6	0	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:81952456G>A	uc003hmg.4	+	0	338	c.18G>A	c.(16-18)agG>agA	p.R6R		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	6					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GGGCGAGCAGGCTGCTCTTTC	0.706													A	81952456	G	A	81952456	2	1	92	1	0	0	0	0	0	0	0	1	1467	1194	42	2		2	BMP3	4	81952456	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		81952456	109201820	16	5984											
MTTP	4547	broad.mit.edu	37	chr4	100534247	100534247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgctgtcagcatctggcGaccctatcagtgtggtgaaa	11	10	11	9	1	3	1	2	1	1	0	3	2	3	1	1	2	2	2	1	2	3	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:100534247G>A	uc011cej.2	+	14	2261	c.2248G>A	c.(2248-2250)Gac>Aac	p.D750N	MTTP_uc003hvc.4_Missense_Mutation_p.D723N	NM_000253	NP_000244	P55157	MTP_HUMAN	Homo sapiens microsomal triglyceride transfer protein (MTTP), mRNA.	723					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AGCATCTGGCGACCCTATCAG	0.428													A	100534247	G	A	100534247	3	1	92	1	0	0	0	0	1	0	0	0	10040	1058	37	1	2225	1	MTTP	4	100534247	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	18581791	100534247	90620029	17	5985											
TLL1	7092	broad.mit.edu	37	chr4	166915601	166915601	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcaaaatgagaaaaatCgagttcccagagccgctaca	16	5	10	10	2	0	2	0	1	0	2	2	4	1	2	2	1	2	3	2	1	5	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr4:166915601C>T	uc003irh.2	+	3	1077	c.430C>T	c.(430-432)Cga>Tga	p.R144*	TLL1_uc021xud.1_Nonsense_Mutation_p.R144*|TLL1_uc011cjn.2_Nonsense_Mutation_p.R144*|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	144					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TGAGAAAAATCGAGTTCCCAG	0.423													T	166915601	C	T	166915601	4	4	92	1	0	0	0	0	0	1	0	0	16045	876	31	1	444	1	TLL1	4	166915601	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	66381354	166915601	24238675	18	5986											
PDE8B	8622	broad.mit.edu	37	chr5	76640735	76640735	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagccatagaaataacAagcgatgaccacgtgattca	17	7	8	9	2	1	4	1	3	0	1	1	5	1	4	2	0	3	0	2	0	5	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:76640735A>G	uc003kfa.3	+	6	900	c.855A>G	c.(853-855)acA>acG	p.T285T	PDE8B_uc003kfd.3_Silent_p.T285T|PDE8B_uc003kfe.3_Silent_p.T285T|PDE8B_uc003kfb.3_Silent_p.T265T|PDE8B_uc003kfc.3_Silent_p.T285T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	285	PAS.				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		TAGAAATAACAAGCGATGACC	0.353													G	76640735	A	G	76640735	2	3	92	1	0	0	0	0	0	0	0	1	11730	117	5	3		3	PDE8B	5	76640735	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08		76640735	104274525	19	5987											
RASA1	5921	broad.mit.edu	37	chr5	86659220	86659220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagagggtagtgatgcccaActtatttattttgaaagcga	12	14	10	5	1	0	3	0	2	0	1	0	4	0	3	1	1	3	1	1	1	6	7			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:86659220A>G	uc003kiw.3	+	10	1708	c.1509A>G	c.(1507-1509)caA>caG	p.Q503Q	RASA1_uc010jav.3_Non-coding_Transcript|RASA1_uc003kix.3_Silent_p.Q326Q|RASA1_uc011ctv.2_Silent_p.Q336Q|RASA1_uc011ctw.2_Silent_p.Q337Q|RASA1_uc010jaw.3_Silent_p.Q325Q	NM_002890	NP_002881	P20936	RASA1_HUMAN	Homo sapiens RAS p21 protein activator (GTPase activating protein) 1 (RASA1), transcript variant 1, mRNA.	503	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)		GTGATGCCCAACTTATTTATT	0.323													G	86659220	A	G	86659220	2	3	92	1	0	0	0	0	0	0	0	1	13148	40	2	3		3	RASA1	5	86659220	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	10018485	86659220	94256040	20	5988											
GPR98	84059	broad.mit.edu	37	chr5	89986845	89986845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggctgacgacgttcCggagattgaagaggtgagag	9	8	17	7	3	0	5	0	3	0	3	2	8	2	5	2	4	0	2	2	4	1	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:89986845C>T	uc003kju.3	+	30	7034	c.6938C>T	c.(6937-6939)cCg>cTg	p.P2313L	GPR98_uc003kjt.3_Intron|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2313	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GACGACGTTCCGGAGATTGAA	0.468													T	89986845	C	T	89986845	3	4	92	1	0	0	0	0	1	0	0	0	6776	652	23	1	7060	1	GPR98	5	89986845	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	3327625	89986845	90928415	21	5989											
TRPC7	57113	broad.mit.edu	37	chr5	135583350	135583350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtatgcaatgcgagagaaGctcagcacgacggctatcgc	12	7	12	10	4	1	1	1	0	0	1	2	4	1	1	0	1	4	5	0	1	4	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:135583350G>A	uc003lbn.2	-	6	1875	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	TRPC7_uc010jef.2_Silent_p.S487S|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_Silent_p.S102S|TRPC7_uc010jeh.2_Silent_p.S490S|TRPC7_uc010jei.2_Silent_p.S435S	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	551					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGAGAGAAGCTCAGCACGA	0.502													A	135583350	G	A	135583350	2	1	92	1	0	0	0	0	0	0	0	1	16685	962	34	2		2	TRPC7	5	135583350	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	45596505	135583350	45331910	22	5990											
GABRA1	2554	broad.mit.edu	37	chr5	161324264	161324264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctaaagaggtcaagcccGaaacaaaaccaccagaaccc	19	2	6	14	1	1	2	1	0	0	2	1	3	1	2	5	1	5	0	5	1	8	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr5:161324264G>A	uc010jiw.3	+	10	1675	c.1207G>A	c.(1207-1209)Gaa>Aaa	p.E403K	GABRA1_uc010jix.3_Missense_Mutation_p.E403K|GABRA1_uc010jiy.3_Missense_Mutation_p.E403K|GABRA1_uc003lyx.4_Missense_Mutation_p.E403K|GABRA1_uc010jiz.3_Missense_Mutation_p.E403K|GABRA1_uc010jja.3_Missense_Mutation_p.E403K|GABRA1_uc010jjb.3_Missense_Mutation_p.E403K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	403					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.E403K(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GGTCAAGCCCGAAACAAAACC	0.473													A	161324264	G	A	161324264	3	1	92	1	0	0	0	0	1	0	0	0	6212	1059	37	1	1241	1	GABRA1	5	161324264	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	25740914	161324264	19590996	23	5991											
CUL9	23113	broad.mit.edu	37	chr6	43181519	43181519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggctgatacctccccagGcatacctgaacgtagagaag	11	8	11	11	1	0	3	0	2	0	1	1	4	1	3	4	2	3	3	4	2	5	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:43181519G>A	uc003ouk.3	+	28	5632	c.5557G>A	c.(5557-5559)Gca>Aca	p.A1853T	CUL9_uc003oul.3_Intron|CUL9_uc010jyk.3_Missense_Mutation_p.A1005T|CUL9_uc003oun.3_5'Flank	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	1853				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						ACCTCCCCAGGCATACCTGAA	0.577													A	43181519	G	A	43181519	3	1	92	1	0	0	0	0	1	0	0	0	4094	1203	42	2	5667	2	CUL9	6	43181519	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		43181519	127933548	24	5992											
CLIC5	53405	broad.mit.edu	37	chr6	45882070	45882070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccacaagtgttggcGtcaatctcctctggtagagg	7	12	10	12	1	4	1	1	0	3	1	6	1	5	1	3	3	0	2	3	3	3	3	rs146052023		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:45882070G>A	uc003oxv.3	-	4	1066	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CLIC5_uc003oxu.3_Silent_p.D161D|CLIC5_uc003oxw.3_Non-coding_Transcript|CLIC5_uc003oxx.3_Silent_p.D161D	NM_001114086	NP_001107558	Q9NZA1	CLIC5_HUMAN	Homo sapiens chloride intracellular channel 5 (CLIC5), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	320	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						AAGTGTTGGCGTCAATCTCCT	0.537													A	45882070	G	A	45882070	2	1	92	1	0	0	0	0	0	0	0	1	3560	1136	40	1		1	CLIC5	6	45882070	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	2700551	45882070	125232997	25	5993											
STX7	8417	broad.mit.edu	37	chr6	132792715	132792715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaactctgccactaagcGatccttctgtattttccttt	7	17	6	11	1	2	1	0	1	2	0	4	2	4	1	3	0	3	1	3	0	3	6			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr6:132792715G>A	uc003qdg.2	-	4	524	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	STX7_uc011ecg.1_Intron|STX7_uc011ech.1_Intron	NM_003569	NP_003560	O15400	STX7_HUMAN	Homo sapiens syntaxin 7 (STX7), mRNA.	92					intracellular protein transport|post-Golgi vesicle-mediated transport	early endosome membrane|integral to membrane	SNAP receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(1)|lung(5)	19	Breast(56;0.0615)			OV - Ovarian serous cystadenocarcinoma(155;0.00532)|GBM - Glioblastoma multiforme(226;0.0114)		GCCACTAAGCGATCCTTCTGT	0.453													A	132792715	G	A	132792715	3	1	92	1	0	0	0	0	1	0	0	0	15446	1058	37	1	535	1	STX7	6	132792715	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	86910645	132792715	38322352	26	5994											
PDE1C	5137	broad.mit.edu	37	chr7	31890345	31890345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaagatctccagctccGtcagccagttctgaaaggag	12	8	10	11	1	3	2	1	1	2	1	5	3	4	3	3	1	3	3	3	1	3	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:31890345G>A	uc003tcm.2	-	7	1222	c.761C>T	c.(760-762)aCg>aTg	p.T254M	PDE1C_uc003tcn.1_Missense_Mutation_p.T254M|PDE1C_uc003tco.2_Missense_Mutation_p.T314M|PDE1C_uc003tcr.3_Missense_Mutation_p.T254M|PDE1C_uc003tcs.3_Missense_Mutation_p.T254M	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	254	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.L253Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			CTCCAGCTCCGTCAGCCAGTT	0.463													A	31890345	G	A	31890345	3	1	92	1	0	0	0	0	1	0	0	0	11711	1145	40	1	1183	1	PDE1C	7	31890345	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		31890345	127248318	27	5995											
ABCA13	154664	broad.mit.edu	37	chr7	48556332	48556332	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttttcagatatgcaactcTtccatggatgtacctgatgt	10	15	7	9	0	2	2	1	1	1	1	3	3	3	3	2	1	3	2	2	1	3	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:48556332T>C	uc003toq.2	+	51	13676	c.13652T>C	c.(13651-13653)cTt>cCt	p.L4551P	ABCA13_uc010kys.1_Missense_Mutation_p.L1626P|ABCA13_uc010kyt.1_Non-coding_Transcript|ABCA13_uc010kyu.1_Missense_Mutation_p.L281P	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4551					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TATGCAACTCTTCCATGGATG	0.378													C	48556332	T	C	48556332	3	2	92	1	0	0	0	0	1	0	0	0	31	1609	56	3	13687	3	ABCA13	7	48556332	Missense_Mutation	SNP	T	TCGA-06-5415-01A-01D-1486-08	16665987	48556332	110582331	28	5996											
STEAP2	261729	broad.mit.edu	37	chr7	89856794	89856794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagagatatttgtttctCaacatggcttatcagcaggt	11	14	9	7	0	3	2	3	0	1	2	4	3	3	2	0	2	2	3	0	2	3	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:89856794C>T	uc010len.3	+	3	1508	c.1002C>T	c.(1000-1002)ctC>ctT	p.L334L	STEAP2_uc003ujy.2_Silent_p.L376L|STEAP2_uc003uka.3_Silent_p.L334L|STEAP2_uc003ujz.3_Silent_p.L334L|STEAP2_uc003ukc.3_Silent_p.L334L|STEAP2_uc003ukb.3_Silent_p.L334L|STEAP2_uc003ukd.3_Silent_p.L334L	NM_001244944	NP_001231873	Q8NFT2	STEA2_HUMAN	Homo sapiens STEAP family member 2, metalloreductase (STEAP2), transcript variant 4, mRNA.	334	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					ATTTGTTTCTCAACATGGCTT	0.338													T	89856794	C	T	89856794	2	4	92	1	0	0	0	0	0	0	0	1	15374	813	29	2		2	STEAP2	7	89856794	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	41300462	89856794	69281869	29	5997											
ZAN	7455	broad.mit.edu	37	chr7	100382333	100382333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatggccggtgtgagggCgccaaagtcccctctgcctg	5	8	15	13	2	1	1	0	1	1	0	2	2	2	2	5	4	1	0	5	4	1	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:100382333C>T	uc003uwj.3	+	36	6873	c.6708C>T	c.(6706-6708)ggC>ggT	p.G2236G	ZAN_uc003uwk.3_Silent_p.G2236G|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.G287G	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2237	TIL 4.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGTGTGAGGGCGCCAAAGTCC	0.612													T	100382333	C	T	100382333	2	4	92	1	0	0	0	0	0	0	0	1	17615	755	27	1		1	ZAN	7	100382333	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	10525539	100382333	58756330	30	5998											
IFRD1	3475	broad.mit.edu	37	chr7	112097053	112097053	+	Frame_Shift_Del	DEL	A	A	-																															gaatttattctggaaaggagAatgactttaactgatagcat																										TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:112097053delA	uc003vgh.3	+	4	839	c.369delA	c.(367-369)agafs	p.R123fs	IFRD1_uc011kmn.2_Frame_Shift_Del_p.R73fs|IFRD1_uc003vgi.3_Frame_Shift_Del_p.R123fs|IFRD1_uc003vgj.3_Frame_Shift_Del_p.R123fs|IFRD1_uc011kmo.2_Non-coding_Transcript|IFRD1_uc011kmp.2_Frame_Shift_Del_p.R73fs	NM_001007245	NP_001184009	O00458	IFRD1_HUMAN	Homo sapiens interferon-related developmental regulator 1 (IFRD1), transcript variant 2, mRNA.	123					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TGGAAAGGAGAATGACTTTAA	0.368													-	112097053	A	-	112097053	7	5	92	1	0	1	0	1	0	0	0	0	7611	243	9	0	383	0	IFRD1	7	112097053	Frame_Shift_Del	DEL	A	TCGA-06-5415-01A-01D-1486-08	11714720	112097053	47041610	31	5999											
FLNC	2318	broad.mit.edu	37	chr7	128490536	128490536	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaaggggagctcacAggtactgccctgtggctccc	8	7	14	12	0	1	1	1	0	0	1	2	2	2	2	2	4	4	4	2	4	2	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128490536A>G	uc003vnz.4	+	32	5607	c.5398_splice	c.e32+1	p.G1800_splice	FLNC_uc003voa.4_Splice_Site_p.G1767_splice	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1800					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GGGAGCTCACAGGTACTGCCC	0.592													G	128490536	A	G	128490536	2	3	92	1	0	0	0	0	0	0	0	1	5984	202	7	3		3	FLNC	7	128490536	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	16393483	128490536	30648127	32	6000											
FLNC	2318	broad.mit.edu	37	chr7	128493857	128493857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccttccatcgccaccatCggcagcacctgtgacctcaa	9	7	7	18	2	1	1	1	1	0	0	4	1	2	1	6	1	1	3	6	1	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:128493857C>T	uc003vnz.4	+	38	6659	c.6450C>T	c.(6448-6450)atC>atT	p.I2150I	FLNC_uc003voa.4_Silent_p.I2117I	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2150					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TCGCCACCATCGGCAGCACCT	0.662													T	128493857	C	T	128493857	2	4	92	1	0	0	0	0	0	0	0	1	5984	874	31	1		1	FLNC	7	128493857	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	3321	128493857	30644806	33	6001											
C7orf49	78996	broad.mit.edu	37	chr7	134851619	134851619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggccttttcctgtttgCggctctgtggagtacgggaa	5	12	14	10	3	1	0	0	0	1	0	2	2	2	2	2	4	2	4	2	4	2	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:134851619C>T	uc003vsl.3	-	3	531	c.218G>A	c.(217-219)cGc>cAc	p.R73H	C7orf49_uc003vsh.3_Intron|C7orf49_uc003vsj.3_Missense_Mutation_p.R44H|C7orf49_uc022alz.1_3'UTR|C7orf49_uc022ama.1_Missense_Mutation_p.R18H|C7orf49_uc022amb.1_3'UTR|C7orf49_uc003vsm.3_3'UTR|C7orf49_uc003vso.3_Missense_Mutation_p.R18H|C7orf49_uc003vsk.3_3'UTR	NM_024033	NP_001230684	Q9BWK5	MRI_HUMAN	Homo sapiens chromosome 7 open reading frame 49 (C7orf49), transcript variant 1, mRNA.	73						cytoplasm		p.P72L(1)		endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTCCTGTTTGCGGCTCTGTGG	0.552													T	134851619	C	T	134851619	3	4	92	1	0	0	0	0	1	0	0	0	2422	768	27	1	259	1	C7orf49	7	134851619	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	6357762	134851619	24287044	34	6002											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138453573	138453573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtcagtgggcttttctcGagcaactgaactacaatctc	9	11	11	10	1	3	1	1	1	2	0	5	2	3	1	0	3	4	2	0	3	4	3	rs137955459		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:138453573G>A	uc003vuf.3	-	3	481	c.243C>T	c.(241-243)ctC>ctT	p.L81L	ATP6V0A4_uc003vug.3_Silent_p.L81L|ATP6V0A4_uc003vuh.3_Silent_p.L81L	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	81					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GGCTTTTCTCGAGCAACTGAA	0.483													A	138453573	G	A	138453573	2	1	92	1	0	0	0	0	0	0	0	1	1175	1045	37	1		1	ATP6V0A4	7	138453573	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	3601954	138453573	20685090	35	6003											
KEL	3792	broad.mit.edu	37	chr7	142658446	142658446	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtctgggatcttgcttaCgagggccacagttctggaag	7	10	16	8	1	3	0	0	0	3	0	3	3	3	2	1	5	2	2	1	5	2	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr7:142658446C>T	uc003wcb.3	-	3	433	c.223_splice	c.e3+1	p.R75_splice		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	75					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					ATCTTGCTTACGAGGGCCACA	0.602													T	142658446	C	T	142658446	5	4	92	1	0	0	0	0	0	0	1	0	8200	550	19	1	2042	1	KEL	7	142658446	Splice_Site	SNP	C	TCGA-06-5415-01A-01D-1486-08	4204873	142658446	16480217	36	6004											
FAM83H	286077	broad.mit.edu	37	chr8	144810766	144810766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatgcgggccagggccgCggccgagggcacaagcggct	6	3	18	14	5	0	0	0	0	0	0	1	1	1	0	4	5	2	2	4	5	1	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144810766C>T	uc003yzk.3	-	4	934	c.865G>A	c.(865-867)Gcg>Acg	p.A289T		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	289					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAGGGCCGCGGCCGAGGGC	0.711													T	144810766	C	T	144810766	3	4	92	1	0	0	0	0	1	0	0	0	5690	768	27	1	2678	1	FAM83H	8	144810766	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		144810766	1553256	37	6005											
EPPK1	83481	broad.mit.edu	37	chr8	144940597	144940597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctcaggttgcgcacGgggtcgatgacgaagccggt	8	6	16	11	5	1	1	1	1	0	0	2	4	1	1	2	4	3	2	2	4	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr8:144940597G>A	uc003zaa.1	-	0	6838	c.6825C>T	c.(6823-6825)ccC>ccT	p.P2275P		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2275						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.D2274D(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTTGCGCACGGGGTCGATGA	0.721													A	144940597	G	A	144940597	2	1	92	1	0	0	0	0	0	0	0	1	5231	1103	39	1		1	EPPK1	8	144940597	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	129831	144940597	1423425	38	6006											
MKX	283078	broad.mit.edu	37	chr10	27964299	27964299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatagctgcgttgatctcCttccaatacgtgtcatcctt	7	14	7	13	2	2	1	1	1	1	0	5	1	4	1	4	0	3	2	4	0	3	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:27964299C>T	uc001ity.4	-	6	1143	c.918G>A	c.(916-918)aaG>aaA	p.K306K	MKX_uc001itx.4_Silent_p.K306K	NM_173576	NP_775847	Q8IYA7	MKX_HUMAN	Homo sapiens mohawk homeobox (MKX), transcript variant 1, mRNA.	306					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						CGTTGATCTCCTTCCAATACG	0.458													T	27964299	C	T	27964299	2	4	92	1	0	0	0	0	0	0	0	1	9685	680	24	2		2	MKX	10	27964299	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08		27964299	107570448	39	6007											
C10orf12	26148	broad.mit.edu	37	chr10	98741746	98741746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactttttcaatggtgactGttgtgagctgccaactgttc	8	16	9	8	0	1	2	1	2	0	0	2	2	1	2	1	1	4	3	1	1	3	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr10:98741746G>A	uc001kmv.3	+	0	706	c.599G>A	c.(598-600)tGt>tAt	p.C200Y	C10orf12_uc009xvg.2_Missense_Mutation_p.C510Y	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	200										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AATGGTGACTGTTGTGAGCTG	0.423													A	98741746	G	A	98741746	3	1	92	1	0	0	0	0	1	0	0	0	1600	1377	48	2	601	2	C10orf12	10	98741746	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	70777447	98741746	36793001	40	6008											
MMP10	4319	broad.mit.edu	37	chr11	102647144	102647144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggttcctcagtagaggCagggggaggtcctaaaggaa	11	6	17	7	0	1	1	1	0	0	1	3	3	3	3	2	7	0	3	2	7	4	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:102647144C>T	uc001phg.2	-	5	836	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	267					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAGTAGAGGCAGGGGGAGGT	0.468													T	102647144	C	T	102647144	3	4	92	1	0	0	0	0	1	0	0	0	9724	710	25	2	651	2	MMP10	11	102647144	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		102647144	32359372	41	6009											
DDX25	29118	broad.mit.edu	37	chr11	125787056	125787056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaacatccggcaatattaCgtgctgtgtgagcacaggaa	14	8	10	9	2	0	1	0	1	0	0	1	2	1	2	1	2	5	3	1	2	6	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr11:125787056C>T	uc001qcz.4	+	8	1089	c.948C>T	c.(946-948)taC>taT	p.Y316Y	DDX25_uc010sbk.2_Silent_p.Y316Y	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	316	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		GGCAATATTACGTGCTGTGTG	0.478													T	125787056	C	T	125787056	2	4	92	1	0	0	0	0	0	0	0	1	4386	547	19	1		1	DDX25	11	125787056	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	23139912	125787056	9219460	42	6010											
ITPR2	3709	broad.mit.edu	37	chr12	26864181	26864181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgtcctgcacccccacgGcatgggtcatgatgaaccac	9	7	9	16	1	1	2	1	2	0	0	2	2	2	2	4	2	2	2	4	2	1	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:26864181G>A	uc001rhg.3	-	8	1293	c.876C>T	c.(874-876)tgC>tgT	p.C292C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	292					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACCCCCACGGCATGGGTCAT	0.433													A	26864181	G	A	26864181	2	1	92	1	0	0	0	0	0	0	0	1	7979	1195	42	2		2	ITPR2	12	26864181	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		26864181	106987714	43	6011											
PRPF40B	25766	broad.mit.edu	37	chr12	50028946	50028946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaaggcgcagcgggagaagGaggagaaggaggaggcccgg	13	0	21	7	3	0	2	0	0	0	2	0	7	0	5	1	8	1	1	1	8	3	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:50028946G>C	uc001rur.1	+	11	1063	c.1000G>C	c.(1000-1002)Gag>Cag	p.E334Q	PRPF40B_uc001rup.1_Missense_Mutation_p.E356Q|PRPF40B_uc001ruq.1_Missense_Mutation_p.E328Q|PRPF40B_uc001rus.1_Missense_Mutation_p.E277Q	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	334					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCGGGAGAAGGAGGAGAAGGA	0.582													C	50028946	G	C	50028946	3	2	92	1	0	0	0	0	1	0	0	0	12658	1175	41	4	1046	4	PRPF40B	12	50028946	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	23164765	50028946	83822949	44	6012											
CAPS2	84698	broad.mit.edu	37	chr12	75692734	75692734	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgagctctctgcaagcAtcacgtccattactggaaaa	13	9	7	12	1	2	1	1	1	1	0	4	2	3	2	2	1	4	3	2	1	5	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:75692734A>C	uc001sxl.3	-	9	896	c.867T>G	c.(865-867)gaT>gaG	p.D289E	CAPS2_uc001sxm.3_Missense_Mutation_p.D76E|CAPS2_uc009zsa.2_Intron|CAPS2_uc001sxi.4_Intron|CAPS2_uc001sxj.4_Intron|CAPS2_uc001sxk.4_Missense_Mutation_p.D308E	NM_032606	NP_115995	Q9BXY5	CAYP2_HUMAN	Homo sapiens calcyphosine 2 (CAPS2), mRNA.	308							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CTCTGCAAGCATCACGTCCAT	0.308													C	75692734	A	C	75692734	3	2	92	1	0	0	0	0	1	0	0	0	2664	214	8	5	781	5	CAPS2	12	75692734	Missense_Mutation	SNP	A	TCGA-06-5415-01A-01D-1486-08	25663788	75692734	58159161	45	6013											
NT5DC3	51559	broad.mit.edu	37	chr12	104186945	104186945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaataaacactcacctcCgcttatcattaaagaagttt	17	11	4	9	1	2	1	2	0	0	1	3	2	3	1	2	0	1	2	2	0	8	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:104186945C>T	uc010swe.1	-	8	1057	c.1016G>A	c.(1015-1017)cGg>cAg	p.R339Q		NM_001031701	NP_001026871	Q86UY8	NT5D3_HUMAN	Homo sapiens 5'-nucleotidase domain containing 3 (NT5DC3), mRNA.	339							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						CACTCACCTCCGCTTATCATT	0.403													T	104186945	C	T	104186945	3	4	92	1	0	0	0	0	1	0	0	0	10768	652	23	1	654	1	NT5DC3	12	104186945	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	28494211	104186945	29664950	46	6014											
NOS1	4842	broad.mit.edu	37	chr12	117710315	117710315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggagcatgttggacaCggcggggaggccgtaccact	8	7	15	11	3	1	0	0	0	1	0	1	3	1	3	2	6	2	3	2	6	2	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:117710315C>T	uc001twn.2	-	9	2425	c.1714G>A	c.(1714-1716)Gtg>Atg	p.V572M	NOS1_uc021ren.1_Missense_Mutation_p.V236M|NOS1_uc021reo.1_Missense_Mutation_p.V236M|NOS1_uc001twm.2_Missense_Mutation_p.V572M	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	572					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.V572M(2)|p.A571A(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	ATGTTGGACACGGCGGGGAGG	0.617													T	117710315	C	T	117710315	3	4	92	1	0	0	0	0	1	0	0	0	10617	536	19	1	2670	1	NOS1	12	117710315	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	13523370	117710315	16141580	47	6015											
TMEM132D	121256	broad.mit.edu	37	chr12	130015732	130015732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacgccgatgatgttcacGcctttcttcacctttgccct	5	13	7	16	4	3	1	2	1	1	0	3	2	3	1	4	0	1	2	4	0	0	4	rs147002439		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr12:130015732G>A	uc009zyl.1	-	2	1315	c.987C>T	c.(985-987)ggC>ggT	p.G329G		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	329						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGATGTTCACGCCTTTCTTCA	0.557													A	130015732	G	A	130015732	2	1	92	1	0	0	0	0	0	0	0	1	16147	1074	38	1		1	TMEM132D	12	130015732	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	12305417	130015732	3836163	48	6016											
SERPINA10	51156	broad.mit.edu	37	chr14	94756360	94756360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcgaaaattcataggcaCgcactctgtatcaaaatacc	15	10	6	10	2	3	0	2	0	1	0	3	1	3	0	1	1	2	3	1	1	7	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr14:94756360C>T	uc001yct.3	-	1	1037	c.571G>A	c.(571-573)Gtg>Atg	p.V191M	SERPINA10_uc001ycu.4_Missense_Mutation_p.V191M	NM_016186	NP_057270	Q9UK55	ZPI_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 (SERPINA10), transcript variant 1, mRNA.	191					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	33		all_cancers(154;0.105)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)		TTCATAGGCACGCACTCTGTA	0.418													T	94756360	C	T	94756360	3	4	92	1	0	0	0	0	1	0	0	0	14180	536	19	1	779	1	SERPINA10	14	94756360	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		94756360	12593180	49	6017											
CILP	8483	broad.mit.edu	37	chr15	65489345	65489345	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgtgccatcaaagcaccgGccgagcgcgatctccttggc	8	7	12	14	4	2	0	1	0	1	0	3	3	2	0	4	2	3	1	4	2	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:65489345G>T	uc002aon.2	-	8	3460	c.3279C>A	c.(3277-3279)ggC>ggA	p.G1093G		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1093					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		p.L1092L(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CAAAGCACCGGCCGAGCGCGA	0.582													T	65489345	G	T	65489345	2	4	92	1	0	0	0	0	0	0	0	1	3459	1190	42	4		4	CILP	15	65489345	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		65489345	37042047	50	6018											
SV2B	9899	broad.mit.edu	37	chr15	91835641	91835641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggattatgcaaatttggCgccatcctgggaaacaccat	13	10	9	9	1	0	0	0	0	0	0	1	2	1	2	3	3	2	1	3	3	4	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr15:91835641C>T	uc002bqv.3	+	13	2802	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G	SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.G486G	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	637					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.F636F(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GCAAATTTGGCGCCATCCTGG	0.463													T	91835641	C	T	91835641	2	4	92	1	0	0	0	0	0	0	0	1	15514	755	27	1		1	SV2B	15	91835641	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	26346296	91835641	10695751	51	6019											
MSLNL	401827	broad.mit.edu	37	chr16	822701	822701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caccggagctcctggggatgGatggtctggatctggtgagg	6	9	18	8	1	2	1	0	1	2	0	3	5	3	5	2	8	1	1	2	8	0	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:822701G>A	uc002cjz.1	-	11	2406	c.2406C>T	c.(2404-2406)atC>atT	p.I802I		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	451					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CCTGGGGATGGATGGTCTGGA	0.647													A	822701	G	A	822701	2	1	92	1	0	0	0	0	0	0	0	1	9958	1164	41	2		2	MSLNL	16	822701	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08		822701	89532052	52	6020											
ERCC4	2072	broad.mit.edu	37	chr16	14024621	14024621	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggagccaagactaaaTccttagttcaggatttgaag	13	11	10	7	0	1	2	1	1	0	1	2	4	2	4	2	2	2	2	2	2	5	5			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:14024621T>A	uc002dce.2	+	4	856	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ERCC4_uc010bva.3_Missense_Mutation_p.S283T	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	283	Leucine-zipper 2.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						CAAGACTAAATCCTTAGTTCA	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14024621	T	A	14024621	3	1	92	1	0	0	0	0	1	0	0	0	5256	1435	50	5	865	5	ERCC4	16	14024621	Missense_Mutation	SNP	T	TCGA-06-5415-01A-01D-1486-08	13201920	14024621	76330132	53	6021											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126333	19126333	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgccactgcgcctcccgCcgcttgtggcgctggagcca	3	8	14	16	4	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	0	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:19126333C>G	uc002dfu.4	+	0	1080	c.550C>G	c.(550-552)Ccg>Gcg	p.P184A	ITPRIPL2_uc002dft.3_5'UTR	NM_001034841	NP_001030013	Q3MIP1	IPIL2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein-like 2 (ITPRIPL2), transcript variant 1, mRNA.	184						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCGCCTCCCGCCGCTTGTGGC	0.697											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	19126333	C	G	19126333	3	3	92	1	0	0	0	0	1	0	0	0	7983	739	26	4	552	4	ITPRIPL2	16	19126333	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08	5101712	19126333	71228420	54	6022											
RANBP10	57610	broad.mit.edu	37	chr16	67763893	67763893	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagccctgggtagaagcGctgggtggtctcgatggcct	6	8	16	11	2	1	1	0	0	1	1	2	2	1	1	2	4	3	3	2	4	2	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr16:67763893G>C	uc002eud.3	-	7	1062	c.946C>G	c.(946-948)Cgc>Ggc	p.R316G	RANBP10_uc010ceo.3_Missense_Mutation_p.R87G|RANBP10_uc010vju.2_Missense_Mutation_p.R260G|RANBP10_uc010vjv.2_Missense_Mutation_p.R199G|RANBP10_uc010vjw.1_5'UTR	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	316	CTLH.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		GGGTAGAAGCGCTGGGTGGTC	0.632													C	67763893	G	C	67763893	3	2	92	1	0	0	0	0	1	0	0	0	13114	1087	38	4	944	4	RANBP10	16	67763893	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	48637560	67763893	22590860	55	6023											
DNAH2	146754	broad.mit.edu	37	chr17	7671485	7671485	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacttttgctcaggacCgaaactgggaaattattgaa	13	10	8	10	1	1	1	1	1	0	0	1	4	1	3	3	2	3	1	3	2	5	4			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr17:7671485C>T	uc002giu.1	+	22	3855	c.3841C>T	c.(3841-3843)Cga>Tga	p.R1281*		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1281	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGCTCAGGACCGAAACTGGGA	0.547													T	7671485	C	T	7671485	4	4	92	1	0	0	0	0	0	1	0	0	4641	644	23	1	3931	1	DNAH2	17	7671485	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		7671485	73523725	56	6024											
DSG1	1828	broad.mit.edu	37	chr18	28913591	28913591	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtaagaggctctgacCgagatggcggggcagatggc	8	8	17	8	2	1	4	0	1	1	3	1	5	1	4	1	5	1	4	1	5	1	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr18:28913591C>T	uc002kwp.3	+	6	936	c.724C>T	c.(724-726)Cga>Tga	p.R242*		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	242	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			AGGCTCTGACCGAGATGGCGG	0.428													T	28913591	C	T	28913591	4	4	92	1	0	0	0	0	0	1	0	0	4815	644	23	1	750	1	DSG1	18	28913591	Nonsense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		28913591	49163657	57	6025											
MUC16	94025	broad.mit.edu	37	chr19	8996490	8996490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgtcccatccttttcAggcctggagagggcaggtga	6	10	15	10	0	1	2	1	1	0	1	3	3	3	2	3	5	0	2	3	5	0	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:8996490A>G	uc002mkp.3	-	60	41286	c.41082T>C	c.(41080-41082)ccT>ccC	p.P13694P	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.P511P|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13696	SEA 11.			Missing (in Ref. 3; AAK74120).	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						CATCCTTTTCAGGCCTGGAGA	0.542													G	8996490	A	G	8996490	2	3	92	1	0	0	0	0	0	0	0	1	10049	175	7	3		3	MUC16	19	8996490	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08		8996490	50132493	58	6026											
RASAL3	64926	broad.mit.edu	37	chr19	15571922	15571922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccggttctgtttttccAggcatccgatctgtgggtcg	3	15	12	11	3	3	0	0	0	3	0	7	1	5	0	3	3	0	3	3	3	0	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:15571922A>G	uc002nbe.2	-	4	641	c.555T>C	c.(553-555)ccT>ccC	p.P185P		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	185					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						CTGTTTTTCCAGGCATCCGAT	0.582													G	15571922	A	G	15571922	2	3	92	1	0	0	0	0	0	0	0	1	13153	175	7	3		3	RASAL3	19	15571922	Silent	SNP	A	TCGA-06-5415-01A-01D-1486-08	6575432	15571922	43557061	59	6027											
ZNF507	22847	broad.mit.edu	37	chr19	32847587	32847609	+	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TAATGAGCCAAGAATTTCCAGTG	-																															accttgtcaatagcaacttcTaatgagccaagaatttccag																										TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:32847587_32847609delTAATGAGCCAAGAATTTCCAGTG	uc002nte.3	+	3	2465_2487	c.2193_2215delTAATGAGCCAAGAATTTCCAGTG	c.(2191-2217)tctaatgagccaagaatttccagtgatfs	p.S731fs	ZNF507_uc002ntc.2_Frame_Shift_Del_p.S731fs|ZNF507_uc010xrn.1_Frame_Shift_Del_p.S731fs|ZNF507_uc002ntd.3_Frame_Shift_Del_p.S731fs	NM_001136156	NP_055725	Q8TCN5	ZN507_HUMAN	Homo sapiens zinc finger protein 507 (ZNF507), transcript variant 1, mRNA.	731					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TAGCAACTTCTAATGAGCCAAGAATTTCCAGTGATACAGCTGA	0.381													-	32847609	TAATGAGCCAAGAATTTCCAGTG	-	32847587	7	5	92	1	0	1	0	1	0	0	0	0	18054	1509	53	0	2199	0	ZNF507	19	32847587	Frame_Shift_Del	DEL	TAATGAGCCAAGAATTTCCAGTG	TCGA-06-5415-01A-01D-1486-08	17275665	32847587	26281396	60	6028											
OPA3	80207	broad.mit.edu	37	chr19	46056784	46056784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctcctatttcttggaCgcaggcactgcgtgggaagc	8	9	13	11	2	1	0	0	0	1	0	2	2	2	2	1	3	3	4	1	3	3	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:46056784C>T	uc002pcj.4	-						OPA3_uc002pck.4_Silent_p.A176A|OPA3_uc010xxk.2_Silent_p.A123A	NM_001017989	NP_001017989	Q9H6K4	OPA3_HUMAN	Homo sapiens optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia) (OPA3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.						response to stimulus|visual perception	mitochondrion				cervix(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00778)|GBM - Glioblastoma multiforme(486;0.0976)|Epithelial(262;0.242)		ATTTCTTGGACGCAGGCACTG	0.637													T	46056784	C	T	46056784	2	4	92	1	0	0	0	0	0	0	0	1	10948	523	19	1		1	OPA3	19	46056784	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	13209197	46056784	13072199	61	6029											
CCDC114	93233	broad.mit.edu	37	chr19	48805978	48805978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcttctccagctgtccccGcacatcctggaagcgggcct	6	8	11	16	2	1	0	0	0	1	0	4	2	3	1	5	2	3	3	5	2	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:48805978G>A	uc002pir.2	-	9	1785	c.1102C>T	c.(1102-1104)Cgg>Tgg	p.R368W	CCDC114_uc002piq.2_Missense_Mutation_p.R177W|CCDC114_uc002pio.3_Missense_Mutation_p.R405W|CCDC114_uc002pis.1_Missense_Mutation_p.R48W|CCDC114_uc002pit.1_Missense_Mutation_p.R405W	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	368										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		AGCTGTCCCCGCACATCCTGG	0.647													A	48805978	G	A	48805978	3	1	92	1	0	0	0	0	1	0	0	0	2777	1086	38	1	930	1	CCDC114	19	48805978	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	2749194	48805978	10323005	62	6030											
CA11	770	broad.mit.edu	37	chr19	49143426	49143426	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccaaacagcagccgcaGttcactgagtcggtggctgt	9	8	12	12	2	1	1	1	1	0	0	3	1	2	1	2	2	4	5	2	2	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:49143426G>C	uc002pjz.1	-	3	959	c.397C>G	c.(397-399)Ctg>Gtg	p.L133V	SEC1_uc010xzv.2_Intron|SEC1_uc002pka.3_Intron|SEC1_uc010xzw.2_Intron|SEC1_uc010ema.3_Intron|DBP_uc002pjx.4_5'Flank|DBP_uc002pjy.2_5'Flank|DBP_uc010elz.1_5'Flank	NM_001217	NP_001208	O75493	CAH11_HUMAN	Homo sapiens carbonic anhydrase XI (CA11), mRNA.	133						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AGCAGCCGCAGTTCACTGAGT	0.592													C	49143426	G	C	49143426	3	2	92	1	0	0	0	0	1	0	0	0	2538	1020	36	4	613	4	CA11	19	49143426	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	337448	49143426	9985557	63	6031											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccctcagtacctggcGtgttgtcacgtgaaatgctg	7	10	13	11	3	2	1	2	1	0	0	2	2	2	1	2	2	2	3	2	2	2	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:51919569G>A	uc002pwo.3	-	3	971	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	250					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547													A	51919569	G	A	51919569	3	1	92	1	0	0	0	0	1	0	0	0	14400	1145	40	1	1376	1	SIGLEC10	19	51919569	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	2776143	51919569	7209414	64	6032											
LILRB4	11006	broad.mit.edu	37	chr19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggctcgggagtaccGtctggataaagaggaaagcc	11	6	15	9	2	1	1	0	0	1	1	2	5	1	5	3	5	2	2	3	5	4	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55175317G>A	uc002qgp.3	+	2	538	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_uc002qgo.1_Missense_Mutation_p.R100H|LILRB4_uc002qgq.3_Missense_Mutation_p.R59H|LILRB4_uc010ers.1_5'UTR|LILRB4_uc010ert.3_Missense_Mutation_p.R100H|LILRB4_uc010eru.3_Missense_Mutation_p.R88H	NM_006847	NP_006838	Q8NHJ6	LIRB4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4 (LILRB4), transcript variant 1, mRNA.	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587													A	55175317	G	A	55175317	3	1	92	1	0	0	0	0	1	0	0	0	8853	1145	40	1	186	1	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	3255748	55175317	3953666	65	6033											
NLRP7	199713	broad.mit.edu	37	chr19	55450816	55450816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcctttggagactctGtcctggcggaggatgtctcc	6	11	13	11	1	2	1	0	0	2	1	4	4	3	3	3	4	2	1	3	4	1	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55450816G>A	uc002qih.4	-	3	1447	c.1371C>T	c.(1369-1371)gaC>gaT	p.D457D	NLRP7_uc010esk.3_Silent_p.D457D|NLRP7_uc002qig.4_Silent_p.D457D|NLRP7_uc002qii.4_Silent_p.D457D|NLRP7_uc010esl.3_Silent_p.D485D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	457	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGACTCTGTCCTGGCGGA	0.617													A	55450816	G	A	55450816	2	1	92	1	0	0	0	0	0	0	0	1	10558	1368	48	2		2	NLRP7	19	55450816	Silent	SNP	G	TCGA-06-5415-01A-01D-1486-08	275499	55450816	3678167	66	6034											
PTPRH	5794	broad.mit.edu	37	chr19	55708508	55708508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacgcacagaggctctgcGtggaactggctacgtcattc	8	9	13	11	3	2	1	1	0	1	1	3	3	2	3	0	4	3	3	0	4	2	2			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr19:55708508G>A	uc002qjq.3	-	8	2040	c.1967C>T	c.(1966-1968)aCg>aTg	p.T656M	PTPRH_uc010esv.3_Missense_Mutation_p.T478M|PTPRH_uc002qjs.2_Missense_Mutation_p.T663M	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	656	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGGCTCTGCGTGGAACTGGC	0.547													A	55708508	G	A	55708508	3	1	92	1	0	0	0	0	1	0	0	0	12891	1145	40	1	1428	1	PTPRH	19	55708508	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	257692	55708508	3420475	67	6035											
PCSK2	5126	broad.mit.edu	37	chr20	17445987	17445987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgggtctgacctggCgggacatgcagcatctgact	7	8	13	13	1	2	2	0	2	2	0	2	3	2	3	3	3	3	2	3	3	0	0	rs138900084		TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:17445987C>T	uc002wpm.3	+	10	1573	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	PCSK2_uc002wpl.3_Missense_Mutation_p.R388W|PCSK2_uc010zrm.2_Missense_Mutation_p.R372W|PCSK2_uc002wpn.3_Missense_Mutation_p.R61W	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	407	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTGACCTGGCGGGACATGCA	0.552													T	17445987	C	T	17445987	3	4	92	1	0	0	0	0	1	0	0	0	11677	759	27	1	1261	1	PCSK2	20	17445987	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		17445987	45579533	68	6036											
TPX2	22974	broad.mit.edu	37	chr20	30371716	30371716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctactaagattttggaaGatgttgtggtaaggttgagg	10	13	14	4	0	0	3	0	1	0	2	0	4	0	4	1	4	1	3	1	4	4	7			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:30371716G>T	uc002wwp.1	+	11	2103	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y	TPX2_uc010gdv.1_Missense_Mutation_p.D505Y	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	469					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATTTTGGAAGATGTTGTGGT	0.413													T	30371716	G	T	30371716	3	4	92	1	0	0	0	0	1	0	0	0	16533	942	33	4	1443	4	TPX2	20	30371716	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	12925729	30371716	32653804	69	6037											
BPI	671	broad.mit.edu	37	chr20	36932646	36932646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccaggggcccttgcaaCgcgccgagatgggcgtccct	6	6	15	14	4	0	1	0	0	0	1	1	2	1	1	4	4	2	1	4	4	1	1			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr20:36932646C>T	uc002xib.2	+	0	95	c.33C>T	c.(31-33)aaC>aaT	p.N11N		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	11					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCCTTGCAACGCGCCGAGAT	0.627													T	36932646	C	T	36932646	2	4	92	1	0	0	0	0	0	0	0	1	1499	535	19	1		1	BPI	20	36932646	Silent	SNP	C	TCGA-06-5415-01A-01D-1486-08	6560930	36932646	26092874	70	6038											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047200	46047200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgccaccagctgctgcGccccggccccctgcctgacc	3	5	11	22	3	0	1	0	1	0	0	0	1	0	1	8	1	5	3	8	1	0	0			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46047200G>A	uc002zfp.4	+	0	161	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						CAGCTGCTGCGCCCCGGCCCC	0.687													A	46047200	G	A	46047200	3	1	92	1	0	0	0	0	1	0	0	0	8574	1087	38	1	114	1	KRTAP10-9	21	46047200	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08		46047200	2082695	71	6039											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066382	46066382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaccccagcatggccGcgtccaccatgtctgtctgc	5	8	8	20	2	2	0	0	0	2	0	4	0	4	0	7	1	2	1	7	1	0	0	rs150246805	by1000genomes	TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr21:46066382G>A	uc002zfr.4	+	0	52	c.7G>A	c.(7-9)Gcg>Acg	p.A3T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	3						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCATGGCCGCGTCCACCAT	0.647													A	46066382	G	A	46066382	3	1	92	1	0	0	0	0	1	0	0	0	8565	1087	38	1	9	1	KRTAP10-11	21	46066382	Missense_Mutation	SNP	G	TCGA-06-5415-01A-01D-1486-08	19182	46066382	2063513	72	6040											
TMPRSS6	164656	broad.mit.edu	37	chr22	37491997	37491997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcggccctgtaggggaCggcagccgagctgttgactg	6	8	16	11	3	0	1	0	1	0	0	1	3	0	2	2	4	3	5	2	4	2	3			TCGA-06-5415-01A-01D-1486-08	TCGA-06-5415-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fca08ee9-b480-4dc7-be56-f1eb03b56f7c	e09e94f5-bd10-4523-bc83-d441a285c37c	g.chr22:37491997C>T	uc003aqt.1	-	4	600	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V189I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V180I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	189					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGTAGGGGACGGCAGCCGAG	0.642													T	37491997	C	T	37491997	3	4	92	1	0	0	0	0	1	0	0	0	16351	536	19	1	1926	1	TMPRSS6	22	37491997	Missense_Mutation	SNP	C	TCGA-06-5415-01A-01D-1486-08		37491997	13812569	73	6041											
HSPG2	3339	broad.mit.edu	37	chr1	22154901	22154901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtaggtgaggtccagccGtttgccattcactgacacct	8	11	10	12	1	1	2	1	2	0	0	2	2	2	2	4	2	2	2	4	2	1	3	rs146179360	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:22154901G>A	uc009vqd.3	-	88	12299	c.12259C>T	c.(12259-12261)Cgg>Tgg	p.R4087W	HSPG2_uc001bfi.3_Missense_Mutation_p.R103W|HSPG2_uc001bfj.3_Missense_Mutation_p.R4086W	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	4086	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGTCCAGCCGTTTGCCATTC	0.597													A	22154901	G	A	22154901	3	1	93	1	0	0	0	0	1	0	0	0	7488	1144	40	1	955	1	HSPG2	1	22154901	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		22154901	227095720	1	6042											
GRHL3	57822	broad.mit.edu	37	chr1	24661135	24661135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcctttctctcttctcagGgtcccaaggagaagcggata	8	12	9	12	1	3	1	1	0	3	1	7	3	5	2	2	3	1	0	2	3	3	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:24661135G>T	uc021oiw.1	+	3	435	c.205_splice	c.e3-1	p.G69_splice	GRHL3_uc001bix.3_Splice_Site_p.G69_splice|GRHL3_uc021oix.1_Splice_Site_p.G23_splice|GRHL3_uc001biy.3_Splice_Site_p.G74_splice|GRHL3_uc001biz.3_Splice_Site	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	69	Transcription activation.				regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CTCTTCTCAGGGTCCCAAGGA	0.552													T	24661135	G	T	24661135	3	4	93	1	0	0	0	0	1	0	0	0	6820	1246	43	4	251	4	GRHL3	1	24661135	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	2506234	24661135	224589486	2	6043											
FAM73A	374986	broad.mit.edu	37	chr1	78338781	78338781	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggtcctagaaattctctGtatgatttatgttgcttttt	7	21	8	5	0	1	2	0	1	1	1	3	2	2	2	1	1	1	3	1	1	4	9			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:78338781G>C	uc010ork.2	+	14	1691	c.1659G>C	c.(1657-1659)ctG>ctC	p.L553L	FAM73A_uc001dhx.3_Silent_p.L552L|FAM73A_uc010orl.2_Silent_p.L515L	NM_198549	NP_940951	Q8NAN2	FA73A_HUMAN	Homo sapiens family with sequence similarity 73, member A (FAM73A), mRNA.	552						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GAAATTCTCTGTATGATTTAT	0.358													C	78338781	G	C	78338781	2	2	93	1	0	0	0	0	0	0	0	1	5667	1364	48	4		4	FAM73A	1	78338781	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	53677646	78338781	170911840	3	6044											
TTLL7	79739	broad.mit.edu	37	chr1	84408356	84408356	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcaccatttcttatcaaAgaaatcctatgtttaaagaa	15	15	4	7	0	3	2	2	0	1	2	4	2	4	2	2	0	0	1	2	0	7	6			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:84408356A>T	uc001djc.3	-	6	909	c.513T>A	c.(511-513)tcT>tcA	p.S171S	TTLL7_uc001djb.3_Non-coding_Transcript|TTLL7_uc001djd.3_Non-coding_Transcript|TTLL7_uc001dje.3_Intron|TTLL7_uc001djf.3_Intron|TTLL7_uc001djg.3_Non-coding_Transcript	NM_024686	NP_078962	Q6ZT98	TTLL7_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 7 (TTLL7), mRNA.	171	TTL.				cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		TTCTTATCAAAGAAATCCTAT	0.294													T	84408356	A	T	84408356	2	4	93	1	0	0	0	0	0	0	0	1	16834	59	3	5		5	TTLL7	1	84408356	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	6069575	84408356	164842265	4	6045											
KCNA10	3744	broad.mit.edu	37	chr1	111060530	111060530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagaagtcagtcttgctggGgcagaccacgaaccggagca	12	5	14	10	2	2	2	1	0	1	2	2	5	2	3	2	3	3	3	2	3	3	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:111060530G>A	uc001dzt.1	-	0	1268	c.880C>T	c.(880-882)Ccc>Tcc	p.P294S		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	294						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GTCTTGCTGGGGCAGACCACG	0.512													A	111060530	G	A	111060530	3	1	93	1	0	0	0	0	1	0	0	0	8060	1232	43	2	659	2	KCNA10	1	111060530	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	26652174	111060530	138190091	5	6046											
FLG2	388698	broad.mit.edu	37	chr1	152326101	152326101	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccataagtagtttcatgTctctcatgaactgtggattc	9	16	8	8	0	3	1	2	1	1	0	6	2	4	2	1	1	1	2	1	1	3	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:152326101T>C	uc001ezw.4	-	2	4234	c.4161A>G	c.(4159-4161)agA>agG	p.R1387R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1387							calcium ion binding|structural molecule activity	p.E1386D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGTTTCATGTCTCTCATGAA	0.507													C	152326101	T	C	152326101	2	2	93	1	0	0	0	0	0	0	0	1	5972	1664	58	3		3	FLG2	1	152326101	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	41265571	152326101	96924520	6	6047											
RNPEP	6051	broad.mit.edu	37	chr1	201966632	201966632	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggggtgaattctggctcaAtgaaggtttcaccatgtacg	9	12	12	8	1	3	2	2	2	1	0	3	2	3	2	1	4	1	3	1	4	4	3	rs114130028		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:201966632A>T	uc001gxd.3	+	4	1069	c.1040A>T	c.(1039-1041)aAt>aTt	p.N347I	RNPEP_uc001gxe.3_Missense_Mutation_p.N48I	NM_020216	NP_064601	Q9H4A4	AMPB_HUMAN	Homo sapiens arginyl aminopeptidase (aminopeptidase B) (RNPEP), mRNA.	347					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TTCTGGCTCAATGAAGGTTTC	0.542													T	201966632	A	T	201966632	3	4	93	1	0	0	0	0	1	0	0	0	13600	101	4	5	1058	5	RNPEP	1	201966632	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	49640531	201966632	47283989	7	6048											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414537	213414537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacgagctgaagttctTccccaacgatgacccagaag	12	7	9	13	2	2	3	1	2	1	1	3	5	3	3	3	0	3	3	3	0	3	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr1:213414537T>C	uc010ptr.2	+	10	1877	c.1718T>C	c.(1717-1719)tTc>tCc	p.F573S	RPS6KC1_uc001hkd.3_Missense_Mutation_p.F561S|RPS6KC1_uc010pts.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptt.2_Missense_Mutation_p.F361S|RPS6KC1_uc010ptu.2_Missense_Mutation_p.F392S|RPS6KC1_uc010ptv.2_Missense_Mutation_p.F108S|RPS6KC1_uc001hke.3_Missense_Mutation_p.F392S	NM_012424	NP_036556	Q96S38	KS6C1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 52kDa, polypeptide 1 (RPS6KC1), transcript variant 1, mRNA.	573					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CTGAAGTTCTTCCCCAACGAT	0.458													C	213414537	T	C	213414537	3	2	93	1	0	0	0	0	1	0	0	0	13749	1783	62	3	1760	3	RPS6KC1	1	213414537	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	11447905	213414537	35836084	8	6049											
EPAS1	2034	broad.mit.edu	37	chr2	46603736	46603736	+	Frame_Shift_Del	DEL	C	C	-																															agactgaatccctgttcaagCcccacctgatggccatgaac																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:46603736delC	uc002ruv.3	+	8	1603	c.1093delC	c.(1093-1095)cccfs	p.P365fs		NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	365					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CCTGTTCAAGCCCCACCTGAT	0.493													-	46603736	C	-	46603736	7	5	93	1	0	1	0	1	0	0	0	0	5191	739	26	0	1127	0	EPAS1	2	46603736	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08		46603736	196595637	9	6050											
SPTBN1	6711	broad.mit.edu	37	chr2	54856159	54856159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgccagctggcggctgagCgcagggcccgtctggaagag	6	7	17	11	3	1	2	0	1	1	1	1	3	1	3	2	4	3	3	2	4	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:54856159C>T	uc002rxu.3	+	13	2137	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SPTBN1_uc002rxv.1_Missense_Mutation_p.R630C|SPTBN1_uc002rxx.3_Missense_Mutation_p.R617C	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	630					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGCGGCTGAGCGCAGGGCCCG	0.582													T	54856159	C	T	54856159	3	4	93	1	0	0	0	0	1	0	0	0	15215	768	27	1	2051	1	SPTBN1	2	54856159	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	8252423	54856159	188343214	10	6051											
GALNT13	114805	broad.mit.edu	37	chr2	155099286	155099286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattattaggatggaagaacGctctgggttaatacgtgccc	12	11	11	7	2	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	7	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:155099286G>A	uc002tyt.4	+	3	658	c.554G>A	c.(553-555)cGc>cAc	p.R185H	GALNT13_uc002tyr.4_Missense_Mutation_p.R185H|GALNT13_uc010foc.1_Missense_Mutation_p.R4H	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	185	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						ATGGAAGAACGCTCTGGGTTA	0.388													A	155099286	G	A	155099286	3	1	93	1	0	0	0	0	1	0	0	0	6265	1087	38	1	568	1	GALNT13	2	155099286	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	100243127	155099286	88100087	11	6052											
MDH1B	130752	broad.mit.edu	37	chr2	207615789	207615789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaccccaaatgatcacGtctttaatgtctgtgaagaa	14	13	6	8	1	3	3	1	2	2	1	3	3	3	3	2	0	1	0	2	0	6	4	rs146327472	byFrequency	TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:207615789G>A	uc002vbs.3	-	5	976	c.921C>T	c.(919-921)gaC>gaT	p.D307D	MDH1B_uc010ziw.2_Intron|MDH1B_uc002vbt.3_Intron|MDH1B_uc010fui.3_Silent_p.D307D|MDH1B_uc021vvm.1_Silent_p.D209D	NM_001039845	NP_001034934	Q5I0G3	MDH1B_HUMAN	Homo sapiens malate dehydrogenase 1B, NAD (soluble) (MDH1B), mRNA.	307					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		AAATGATCACGTCTTTAATGT	0.318													A	207615789	G	A	207615789	2	1	93	1	0	0	0	0	0	0	0	1	9484	1136	40	1		1	MDH1B	2	207615789	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	52516503	207615789	35583584	12	6053											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	93	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	1497323	209113112	34086261	13	6054											
ROBO1	6091	broad.mit.edu	37	chr3	78656067	78656070	+	Frame_Shift_Del	DEL	TCTG	TCTG	-																															cttccttttctgtctgatgaTctgtctgttcttgcatccat																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:78656067_78656070delTCTG	uc003dqe.2	-	28	4765_4768	c.4557_4560delCAGA	c.(4555-4560)gacagafs	p.D1519fs	ROBO1_uc003dqc.2_Frame_Shift_Del_p.D1419fs|ROBO1_uc003dqd.2_Frame_Shift_Del_p.D1474fs|ROBO1_uc003dqb.2_Frame_Shift_Del_p.D1480fs|ROBO1_uc010hoh.2_Frame_Shift_Del_p.D711fs|ROBO1_uc011bgl.1_Frame_Shift_Del_p.D1091fs	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1519					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TGTCTGATGATCTGTCTGTTCTTG	0.485													-	78656070	TCTG	-	78656067	7	5	93	1	0	1	0	1	0	0	0	0	13604	1432	50	0	407	0	ROBO1	3	78656067	Frame_Shift_Del	DEL	TCTG	TCGA-06-5417-01A-01D-1486-08		78656067	119366363	14	6055											
POLQ	10721	broad.mit.edu	37	chr3	121230744	121230744	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcttacctccagaataGctcgtatcatgctgccagtt	8	14	6	13	1	3	1	1	0	2	1	6	1	4	1	3	0	4	4	3	0	4	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:121230744G>C	uc003eee.4	-	9	1730	c.1601C>G	c.(1600-1602)gCt>gGt	p.A534G		NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	534	Helicase C-terminal.				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CTCCAGAATAGCTCGTATCAT	0.358								DNA polymerases (catalytic subunits)					C	121230744	G	C	121230744	3	2	93	1	0	0	0	0	1	0	0	0	12285	971	34	4	6255	4	POLQ	3	121230744	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	42574677	121230744	76791686	15	6056											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	93	1	0	0	0	0	1	0	0	0	11990	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	57705347	178936091	19086339	16	6057											
EIF4G1	1981	broad.mit.edu	37	chr3	184052651	184052651	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaaatctgtcacagccttCttcaagtggctccgtgaagc	9	12	8	12	1	4	1	2	1	2	0	5	1	5	1	2	1	2	1	2	1	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr3:184052651C>G	uc003fnp.3	+	32	5026	c.4755C>G	c.(4753-4755)ttC>ttG	p.F1585L	EIF4G1_uc010hxx.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnt.3_Missense_Mutation_p.F1296L|EIF4G1_uc010hxy.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnq.3_Missense_Mutation_p.F1498L|EIF4G1_uc003fnr.3_Missense_Mutation_p.F1421L|EIF4G1_uc003fns.3_Missense_Mutation_p.F1545L|EIF4G1_uc003fnv.4_Missense_Mutation_p.F1586L|EIF4G1_uc003fnw.3_Missense_Mutation_p.F1592L|EIF4G1_uc003fnx.3_Missense_Mutation_p.F1390L|FAM131A_uc003foc.3_5'Flank|FAM131A_uc003fod.2_5'Flank|FAM131A_uc003foe.3_5'Flank	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1585	EIF4A-binding.|Necessary but not sufficient for MKNK1- binding.|W2.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCACAGCCTTCTTCAAGTGGC	0.607													G	184052651	C	G	184052651	3	3	93	1	0	0	0	0	1	0	0	0	5077	912	32	4	4877	4	EIF4G1	3	184052651	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	5116560	184052651	13969779	17	6058											
SEL1L3	23231	broad.mit.edu	37	chr4	25819779	25819779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcagcagatccatctcCagcaatgcctggaacaagct	11	7	9	14	1	2	1	1	0	1	1	4	2	3	2	4	2	5	3	4	2	3	0			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:25819779C>T	uc003gru.4	-	8	1697	c.1545G>A	c.(1543-1545)ctG>ctA	p.L515L		NM_015187	NP_056002	Q68CR1	SE1L3_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 3 (C. elegans) (SEL1L3), mRNA.	515						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GATCCATCTCCAGCAATGCCT	0.537													T	25819779	C	T	25819779	2	4	93	1	0	0	0	0	0	0	0	1	14105	581	21	2		2	SEL1L3	4	25819779	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08		25819779	165334497	18	6059											
WDR19	57728	broad.mit.edu	37	chr4	39218764	39218764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgctacagctgtgaaaaaAttgaaagatatggagtatct	16	12	9	4	0	1	3	0	2	1	1	1	4	1	4	0	1	3	3	0	1	7	5			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:39218764A>T	uc003gtv.3	+	12	1414	c.1260A>T	c.(1258-1260)aaA>aaT	p.K420N	WDR19_uc003gtu.1_Missense_Mutation_p.K420N|WDR19_uc011byi.2_Missense_Mutation_p.K260N|WDR19_uc003gtw.1_Missense_Mutation_p.K17N	NM_025132	NP_079408	Q8NEZ3	WDR19_HUMAN	Homo sapiens WD repeat domain 19 (WDR19), mRNA.	420					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CTGTGAAAAAATTGAAAGATA	0.343													T	39218764	A	T	39218764	3	4	93	1	0	0	0	0	1	0	0	0	17381	98	4	5	1310	5	WDR19	4	39218764	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	13398985	39218764	151935512	19	6060											
ZAR1	326340	broad.mit.edu	37	chr4	48494815	48494815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatggctattaccactgCaaggactgcaacatccgctg	13	9	8	11	1	0	0	0	0	0	0	1	1	1	1	2	2	4	4	2	2	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:48494815C>G	uc003gyd.3	+	1	996	c.996C>G	c.(994-996)tgC>tgG	p.C332W		NM_175619	NP_783318	Q86SH2	ZAR1_HUMAN	Homo sapiens zygote arrest 1 (ZAR1), mRNA.	332					multicellular organismal development	cytoplasm|membrane	bile acid:sodium symporter activity			endometrium(1)|large_intestine(4)	5						ATTACCACTGCAAGGACTGCA	0.418													G	48494815	C	G	48494815	3	3	93	1	0	0	0	0	1	0	0	0	17617	718	25	4	1002	4	ZAR1	4	48494815	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	9276051	48494815	142659461	20	6061											
POLR2B	5431	broad.mit.edu	37	chr4	57890238	57890238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccatgccatcccctctcGtatgactattggtcacttaa	8	13	5	15	1	2	1	1	1	1	0	5	1	4	1	5	1	1	1	5	1	3	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:57890238G>A	uc003hcl.1	+	20	2967	c.2924G>A	c.(2923-2925)cGt>cAt	p.R975H	POLR2B_uc011cae.1_Missense_Mutation_p.R968H|POLR2B_uc011caf.1_Missense_Mutation_p.R900H|POLR2B_uc003hcm.1_Missense_Mutation_p.R468H	NM_000938	NP_000929	P30876	RPB2_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide B, 140kDa (POLR2B), mRNA.	975					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					ATCCCCTCTCGTATGACTATT	0.378													A	57890238	G	A	57890238	3	1	93	1	0	0	0	0	1	0	0	0	12292	1145	40	1	3006	1	POLR2B	4	57890238	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	9395423	57890238	133264038	21	6062											
WWC2	80014	broad.mit.edu	37	chr4	184210574	184210574	+	Frame_Shift_Del	DEL	C	C	-																															ccagtcagtccttagaagaaCaacacaggaatgcccagtgc																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr4:184210574delC	uc010irx.3	+	20	3352	c.3170delC	c.(3169-3171)acafs	p.T1057fs	WWC2_uc003ivk.4_Frame_Shift_Del_p.T852fs|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Frame_Shift_Del_p.T739fs|WWC2_uc003ivn.4_Frame_Shift_Del_p.T572fs|WWC2_uc010irz.3_Frame_Shift_Del_p.T398fs|WWC2_uc003ivo.4_Frame_Shift_Del_p.T185fs	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	1057										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		CTTAGAAGAACAACACAGGAA	0.537													-	184210574	C	-	184210574	7	5	93	1	0	1	0	1	0	0	0	0	17514	478	17	0	3252	0	WWC2	4	184210574	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08	126320336	184210574	6943702	22	6063											
MARCH6	10299	broad.mit.edu	37	chr5	10387160	10387160	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcactactgacgctgcCattagatatgctgtcaacgt	10	11	9	11	2	2	2	2	1	0	1	2	3	2	2	1	0	5	3	1	0	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:10387160C>G	uc003jet.1	+	4	572	c.389C>G	c.(388-390)cCa>cGa	p.P130R	MARCH6_uc011cmu.1_Missense_Mutation_p.P82R|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Missense_Mutation_p.P25R	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	130					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CTGACGCTGCCATTAGATATG	0.423													G	10387160	C	G	10387160	3	3	93	1	0	0	0	0	1	0	0	0	9380	594	21	4	407	4	MARCH6	5	10387160	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		10387160	170528100	23	6064											
ACOT12	134526	broad.mit.edu	37	chr5	80643615	80643615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaatagtagccactgTctccatccacgccataatct	12	10	6	13	1	2	1	0	0	2	1	4	1	3	1	4	0	2	2	4	0	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:80643615T>C	uc003khl.4	-	5	686	c.631A>G	c.(631-633)Aca>Gca	p.T211A	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	211	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		GTAGCCACTGTCTCCATCCAC	0.498													C	80643615	T	C	80643615	3	2	93	1	0	0	0	0	1	0	0	0	150	1667	58	3	1076	3	ACOT12	5	80643615	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	70256455	80643615	100271645	24	6065											
STARD4	134429	broad.mit.edu	37	chr5	110842033	110842033	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaagttacttacagataTccattaaattcttctgaggg	15	14	6	6	0	2	2	0	1	2	1	3	2	3	2	1	1	2	1	1	1	8	7			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr5:110842033T>G	uc003kph.1	-	2	234	c.150A>C	c.(148-150)ggA>ggC	p.G50G	STARD4_uc010jbw.1_5'UTR|STARD4_uc010jbx.1_5'UTR|STARD4_uc003kpi.1_Non-coding_Transcript|STARD4_uc003kpj.2_Silent_p.G50G	NM_139164	NP_631903	Q96DR4	STAR4_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 4 (STARD4), mRNA.	50	START.				lipid transport		lipid binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	12		all_cancers(142;0.00259)|all_epithelial(76;8.32e-05)|Prostate(80;0.0115)|Colorectal(10;0.0959)|Ovarian(225;0.156)|all_lung(232;0.18)|Lung NSC(167;0.248)		OV - Ovarian serous cystadenocarcinoma(64;4.91e-09)|Epithelial(69;1.39e-08)|all cancers(49;2.34e-06)|COAD - Colon adenocarcinoma(37;0.049)|Colorectal(14;0.138)		CTTACAGATATCCATTAAATT	0.303													G	110842033	T	G	110842033	2	3	93	1	0	0	0	0	0	0	0	1	15355	1422	50	5		5	STARD4	5	110842033	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	30198418	110842033	70073227	25	6066											
SOX4	6659	broad.mit.edu	37	chr6	21595085	21595085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagacagcgacaagatccCtttcattcgagaggcggagc	13	6	11	11	3	1	3	1	0	0	3	3	6	2	4	1	2	2	0	1	2	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:21595085C>T	uc003ndi.3	+	0	1114	c.320C>T	c.(319-321)cCt>cTt	p.P107L		NM_003107	NP_003098	Q06945	SOX4_HUMAN	Homo sapiens SRY (sex determining region Y)-box 4 (SOX4), mRNA.	107					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACAAGATCCCTTTCATTCGA	0.602													T	21595085	C	T	21595085	3	4	93	1	0	0	0	0	1	0	0	0	15047	681	24	2	322	2	SOX4	6	21595085	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		21595085	149519982	26	6067											
VARS2	57176	broad.mit.edu	37	chr6	30893483	30893483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgacacggctcaagtctAcatggagctgcaggtgacca	11	7	12	11	1	2	2	1	2	1	0	2	3	2	3	1	3	3	3	1	3	2	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:30893483A>G	uc011dmz.2	+	27	3119	c.3038A>G	c.(3037-3039)tAc>tGc	p.Y1013C	VARS2_uc003nsc.2_Missense_Mutation_p.Y983C|VARS2_uc011dmx.2_Missense_Mutation_p.Y983C|VARS2_uc011dmy.2_Missense_Mutation_p.Y843C|VARS2_uc011dna.2_Missense_Mutation_p.Y981C|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_Missense_Mutation_p.Y421C|VARS2_uc010jsg.2_Missense_Mutation_p.Y355C|VARS2_uc010jsh.2_Missense_Mutation_p.Y127C	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	983					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GCTCAAGTCTACATGGAGCTG	0.647													G	30893483	A	G	30893483	3	3	93	1	0	0	0	0	1	0	0	0	17226	391	14	3	3148	3	VARS2	6	30893483	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	9298398	30893483	140221584	27	6068											
PHF1	5252	broad.mit.edu	37	chr6	33382595	33382595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccctactggagatggAgcactcaccaggtcactggt	9	7	12	13	0	2	1	2	0	0	1	2	4	2	2	3	4	3	1	3	4	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:33382595A>G	uc003oeh.3	+	10	1274	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.G346G|PHF1_uc010jux.3_Silent_p.G146G	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	346					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				CTGGAGATGGAGCACTCACCA	0.552											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33382595	A	G	33382595	2	3	93	1	0	0	0	0	0	0	0	1	11897	291	11	3		3	PHF1	6	33382595	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	2489112	33382595	137732472	28	6069											
LMBRD1	55788	broad.mit.edu	37	chr6	70411840	70411840	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgaaaaatattccccaGacgatctaaaagcaaaaata	22	7	5	7	1	1	3	0	1	1	2	2	4	2	3	2	0	1	1	2	0	9	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:70411840G>C	uc003pfa.3	-	9	1197	c.921C>G	c.(919-921)gtC>gtG	p.V307V	LMBRD1_uc003pez.3_Silent_p.V234V|LMBRD1_uc010kal.3_Silent_p.V234V|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	307					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ATATTCCCCAGACGATCTAAA	0.269													C	70411840	G	C	70411840	2	2	93	1	0	0	0	0	0	0	0	1	8903	929	33	4		4	LMBRD1	6	70411840	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08	37029245	70411840	100703227	29	6070											
SYNE1	23345	broad.mit.edu	37	chr6	152737569	152737569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaatcgctctttgtcAgtcctttcttcaatgtcctc	5	19	4	13	1	6	0	3	0	3	0	10	0	8	0	2	0	0	1	2	0	2	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr6:152737569A>G	uc021zhb.1	-	38	6226	c.6003T>C	c.(6001-6003)acT>acC	p.T2001T	SYNE1_uc003qot.4_Silent_p.T2008T|SYNE1_uc003qou.4_Silent_p.T2001T|SYNE1_uc010kjb.1_Silent_p.T1984T	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	2001					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)		GCTCTTTGTCAGTCCTTTCTT	0.448										HNSCC(10;0.0054)			G	152737569	A	G	152737569	2	3	93	1	0	0	0	0	0	0	0	1	15542	175	7	3		3	SYNE1	6	152737569	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	82325729	152737569	18377498	30	6071											
CTTNBP2	83992	broad.mit.edu	37	chr7	117431218	117431218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggctgtctgaggcacctgGtctacaggatgaggcactaa	10	8	14	9	0	2	2	0	2	2	0	2	4	2	3	1	5	1	3	1	5	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr7:117431218G>A	uc003vjf.3	-	3	2124	c.2032C>T	c.(2032-2034)Cca>Tca	p.P678S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	678										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		GAGGCACCTGGTCTACAGGAT	0.468													A	117431218	G	A	117431218	3	1	93	1	0	0	0	0	1	0	0	0	4078	1261	44	2	3039	2	CTTNBP2	7	117431218	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		117431218	41707445	31	6072											
XKR9	389668	broad.mit.edu	37	chr8	71593354	71593354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattataatctacgtaactGatttaattgtggacatatgg	13	15	8	5	1	1	1	0	1	1	0	1	2	1	2	0	2	2	2	0	2	6	8			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:71593354G>T	uc003xyq.3	+	2	595	c.61G>T	c.(61-63)Gat>Tat	p.D21Y	XKR9_uc010lzd.3_5'UTR|XKR9_uc010lze.3_Missense_Mutation_p.D21Y	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	21						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			CTACGTAACTGATTTAATTGT	0.318													T	71593354	G	T	71593354	3	4	93	1	0	0	0	0	1	0	0	0	17540	1290	45	4	63	4	XKR9	8	71593354	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		71593354	74770668	32	6073											
EFR3A	23167	broad.mit.edu	37	chr8	132966108	132966108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattcaaggtgtggttcgcAaaacagtcaacgatgaactt	13	11	10	7	2	2	1	2	1	0	0	3	2	2	1	0	2	3	3	0	2	6	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr8:132966108A>G	uc003yte.3	+	5	736	c.532A>G	c.(532-534)Aaa>Gaa	p.K178E		NM_015137	NP_055952	Q14156	EFR3A_HUMAN	Homo sapiens EFR3 homolog A (S. cerevisiae) (EFR3A), mRNA.	178						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TGTGGTTCGCAAAACAGTCAA	0.353													G	132966108	A	G	132966108	3	3	93	1	0	0	0	0	1	0	0	0	4997	131	5	3	554	3	EFR3A	8	132966108	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	61372754	132966108	13397914	33	6074											
FBXO10	26267	broad.mit.edu	37	chr9	37522884	37522884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacaaccacaccatctgaaTagccaaagcagatgaggtta	16	6	7	12	0	1	3	0	2	1	1	1	3	1	3	4	1	3	2	4	1	5	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:37522884T>C	uc004aac.3	-	6	1996	c.1916A>G	c.(1915-1917)tAt>tGt	p.Y639C	FBXO10_uc004aab.3_Missense_Mutation_p.Y623C|FBXO10_uc004aad.3_Missense_Mutation_p.Y173C	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	623						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		ACCATCTGAATAGCCAAAGCA	0.542													C	37522884	T	C	37522884	3	2	93	1	0	0	0	0	1	0	0	0	5775	1406	49	3	1022	3	FBXO10	9	37522884	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08		37522884	103690547	34	6075											
OR13C8	138802	broad.mit.edu	37	chr9	107332296	107332296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggccctcatctccctttTctatggagtgatgactccca	7	13	8	13	0	3	3	1	3	2	0	5	4	4	4	3	2	0	0	3	2	1	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr9:107332296T>C	uc011lvo.2	+	0	848	c.848T>C	c.(847-849)tTc>tCc	p.F283S		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						ATCTCCCTTTTCTATGGAGTG	0.408													C	107332296	T	C	107332296	3	2	93	1	0	0	0	0	1	0	0	0	11014	1783	62	3	850	3	OR13C8	9	107332296	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	69809412	107332296	33881135	35	6076											
OR4S1	256148	broad.mit.edu	37	chr11	48328474	48328474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctgaggaccggcgtaagGctgtctccacatgtggctca	8	9	12	12	2	3	1	1	1	2	0	4	2	3	2	2	4	0	3	2	4	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:48328474G>T	uc010rhu.2	+	0	700	c.700G>T	c.(700-702)Gct>Tct	p.A234S		NM_001004725	NP_001004725	Q8NGB4	OR4S1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 1 (OR4S1), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CCGGCGTAAGGCTGTCTCCAC	0.468													T	48328474	G	T	48328474	3	4	93	1	0	0	0	0	1	0	0	0	11158	1203	42	4	702	4	OR4S1	11	48328474	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		48328474	86678042	36	6077											
CD5	921	broad.mit.edu	37	chr11	60890382	60890382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctccttccccaggccAggatccaaaccccgcaggcc	7	7	7	20	1	1	0	0	0	1	0	5	1	5	1	9	3	1	1	9	3	1	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:60890382A>G	uc009ynk.3	+	6	1206	c.1103A>G	c.(1102-1104)cAg>cGg	p.Q368R		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	368	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		TCCCCAGGCCAGGATCCAAAC	0.657													G	60890382	A	G	60890382	3	3	93	1	0	0	0	0	1	0	0	0	3051	188	7	3	1129	3	CD5	11	60890382	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	12561908	60890382	74116134	37	6078											
TUT1	64852	broad.mit.edu	37	chr11	62343579	62343579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtcctggagattcagggGgccaaggcgcagaccctccc	8	5	15	13	1	1	2	1	0	0	2	3	3	3	2	4	5	0	1	4	5	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:62343579G>A	uc001nto.2	-	8	1764	c.1726C>T	c.(1726-1728)Ccc>Tcc	p.P576S	EEF1G_uc001ntm.1_5'Flank|EEF1G_uc010rlw.1_5'Flank	NM_022830	NP_073741	Q9H6E5	STPAP_HUMAN	Homo sapiens terminal uridylyl transferase 1, U6 snRNA-specific (TUT1), mRNA.	538					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGATTCAGGGGGCCAAGGCGC	0.637													A	62343579	G	A	62343579	3	1	93	1	0	0	0	0	1	0	0	0	16882	1232	43	2	1016	2	TUT1	11	62343579	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	1453197	62343579	72662937	38	6079											
C11orf92	399948	broad.mit.edu	37	chr11	111166838	111166838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaaactcattaatgttgAgctacaaaccagagggaagc	17	7	8	9	0	1	2	1	1	0	1	1	3	1	3	2	1	5	2	2	1	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:111166838A>G	uc001pld.3	-	1		c.2775T>C			C11orf92_uc001ple.3_Non-coding_Transcript					Homo sapiens chromosome 11 open reading frame 92 (C11orf92), non-coding RNA.											endometrium(1)|large_intestine(1)|lung(1)	3						ATTAATGTTGAGCTACAAACC	0.433													G	111166838	A	G	111166838	2	3	93	1	0	0	0	0	0	0	0	1	1684	291	11	3		3	C11orf92	11	111166838	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	48823259	111166838	23839678	39	6080											
BUD13	84811	broad.mit.edu	37	chr11	116627935	116627935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgctggaccactgtagcGaggtctcactaatgagagga	11	8	14	8	1	1	1	1	1	1	1	2	5	1	3	1	4	2	2	1	4	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr11:116627935G>A	uc001ppn.3	-	8	1727	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	BUD13_uc001ppo.3_Missense_Mutation_p.R431C	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	565										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		CCACTGTAGCGAGGTCTCACT	0.413													A	116627935	G	A	116627935	3	1	93	1	0	0	0	0	1	0	0	0	1583	1058	37	1	174	1	BUD13	11	116627935	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	5461097	116627935	18378581	40	6081											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424277	6424277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgggagataggagaggGtggcgacagtggcctgacca	10	5	18	8	1	0	3	0	1	0	2	0	6	0	3	2	5	0	1	2	5	1	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:6424277G>A	uc001qnr.3	+	3	549	c.401G>A	c.(400-402)gGt>gAt	p.G134D	PLEKHG6_uc001qns.3_Missense_Mutation_p.G134D|PLEKHG6_uc010sew.2_Missense_Mutation_p.G134D|PLEKHG6_uc010sex.2_Missense_Mutation_p.G102D	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	134					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATAGGAGAGGGTGGCGACAGT	0.632													A	6424277	G	A	6424277	3	1	93	1	0	0	0	0	1	0	0	0	12151	1261	44	2	457	2	PLEKHG6	12	6424277	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		6424277	127427618	41	6082											
LRP1	4035	broad.mit.edu	37	chr12	57563089	57563089	+	Frame_Shift_Del	DEL	G	G	-																															cacgccaactgcaccaaccaGggtgggcaccaggggcccgt																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:57563089delG	uc001snd.3	+	20	3629	c.3163_splice	c.e20+1	p.A1055_splice	LRP1_uc009zpi.1_Splice_Site	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1055					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCACCAACCAGGGTGGGCACC	0.622													-	57563089	G	-	57563089	7	5	93	1	0	1	0	1	0	0	0	0	9021	1014	35	0	3240	0	LRP1	12	57563089	Frame_Shift_Del	DEL	G	TCGA-06-5417-01A-01D-1486-08	51138812	57563089	76288806	42	6083											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450521	85450521	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagaacccaaaagacaatgcTtggaatagtggcattgtgat	15	9	11	6	0	0	3	0	1	0	2	0	5	0	4	1	2	2	2	1	2	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:85450521T>C	uc001tac.3	+	7	2061	c.1950T>C	c.(1948-1950)gcT>gcC	p.A650A	LRRIQ1_uc021rbo.1_Silent_p.A528A|LRRIQ1_uc001taa.1_Silent_p.A625A	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	650										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGACAATGCTTGGAATAGTG	0.313													C	85450521	T	C	85450521	2	2	93	1	0	0	0	0	0	0	0	1	9099	1596	56	3		3	LRRIQ1	12	85450521	Silent	SNP	T	TCGA-06-5417-01A-01D-1486-08	27887432	85450521	48401374	43	6084											
NR2C1	7181	broad.mit.edu	37	chr12	95442924	95442924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatctccagtgattaggtGtacacttccttccatgcccg	8	13	8	12	1	1	2	0	2	1	0	4	2	3	2	4	1	2	1	4	1	3	4	rs149986233		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:95442924G>T	uc001tdm.4	-	8	1307	c.1051C>A	c.(1051-1053)Cac>Aac	p.H351N	NR2C1_uc010suu.1_Missense_Mutation_p.H351N|NR2C1_uc001tdn.4_Missense_Mutation_p.H351N|NR2C1_uc001tdo.4_Missense_Mutation_p.H351N	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	351					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GTGATTAGGTGTACACTTCCT	0.443													T	95442924	G	T	95442924	3	4	93	1	0	0	0	0	1	0	0	0	10698	1377	48	4	862	4	NR2C1	12	95442924	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	9992403	95442924	38408971	44	6085											
ELK3	2004	broad.mit.edu	37	chr12	96640864	96640864	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaaggcgtctccggagggCcgcgaggcccacaaacacgg	9	3	15	14	5	1	0	0	0	1	0	2	2	1	1	3	5	2	1	3	5	2	0			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr12:96640864C>T	uc001teo.1	+	2	633	c.354C>T	c.(352-354)ggC>ggT	p.G118G		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	118					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CTCCGGAGGGCCGCGAGGCCC	0.612													T	96640864	C	T	96640864	2	4	93	1	0	0	0	0	0	0	0	1	5101	726	26	2		2	ELK3	12	96640864	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	1197940	96640864	37211031	45	6086											
TPTE2	93492	broad.mit.edu	37	chr13	20039439	20039439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatccatcccttgtgtatCgccttttgttttctgaaacc	8	16	5	12	1	1	1	0	1	1	0	4	1	3	1	4	0	1	2	4	0	3	6	rs146223410		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr13:20039439C>T	uc001umd.3	-	9	843	c.632G>A	c.(631-633)cGa>cAa	p.R211Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R100Q|TPTE2_uc001ume.3_Missense_Mutation_p.R134Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	211	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R134Q(1)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CCTTGTGTATCGCCTTTTGTT	0.308													T	20039439	C	T	20039439	3	4	93	1	0	0	0	0	1	0	0	0	16532	884	31	1	984	1	TPTE2	13	20039439	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		20039439	95130439	46	6087											
GZMB	3002	broad.mit.edu	37	chr14	25102156	25102156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtcagcacgaagtcGtctcgtatcaggaagccacc	10	7	11	13	3	3	0	2	0	1	0	5	2	3	1	2	1	3	4	2	1	3	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr14:25102156G>A	uc001wps.2	-	1	234	c.168C>T	c.(166-168)gaC>gaT	p.D56D	GZMB_uc010ama.2_Silent_p.D44D|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	56	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		GCACGAAGTCGTCTCGTATCA	0.572													A	25102156	G	A	25102156	2	1	93	1	0	0	0	0	0	0	0	1	6971	1136	40	1		1	GZMB	14	25102156	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08		25102156	82247384	47	6088											
RYR3	6263	broad.mit.edu	37	chr15	34137199	34137199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatatggcaccaaccctgcGtgccctggccatcatccata	9	9	8	15	1	1	0	1	0	0	0	2	0	2	0	5	2	3	2	5	2	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:34137199G>T	uc001zhi.3	+	92	13503	c.13433G>T	c.(13432-13434)cGt>cTt	p.R4478L	RYR3_uc010bar.3_Missense_Mutation_p.R4473L	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	4478					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCAACCCTGCGTGCCCTGGCC	0.502													T	34137199	G	T	34137199	3	4	93	1	0	0	0	0	1	0	0	0	13861	1145	40	4	13803	4	RYR3	15	34137199	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		34137199	68394193	48	6089											
LACTB	114294	broad.mit.edu	37	chr15	63433763	63433763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcgtggggtgttgtggAaaggaaacaaacgtatggtt	12	10	16	3	2	0	0	0	0	0	0	0	2	0	2	0	6	2	3	0	6	5	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr15:63433763A>G	uc002alw.3	+	5	1475	c.1403A>G	c.(1402-1404)gAa>gGa	p.E468G		NM_032857	NP_116246	P83111	LACTB_HUMAN	Homo sapiens lactamase, beta (LACTB), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	468						mitochondrion	hydrolase activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(1)	12						GGTGTTGTGGAAAGGAAACAA	0.483													G	63433763	A	G	63433763	3	3	93	1	0	0	0	0	1	0	0	0	8656	246	9	3	1429	3	LACTB	15	63433763	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	29296564	63433763	39097629	49	6090											
BAIAP3	8938	broad.mit.edu	37	chr16	1392020	1392020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtatccctggtagaagcGtgcaggaagctgaatgaagt	12	9	14	6	1	0	3	0	2	0	1	1	5	1	4	1	2	3	4	1	2	6	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:1392020G>A	uc002clk.2	+	9	1073	c.915G>A	c.(913-915)gcG>gcA	p.A305A	BAIAP3_uc010uuz.2_Silent_p.A270A|BAIAP3_uc010uva.2_Silent_p.A242A|BAIAP3_uc021tag.1_Silent_p.A247A|BAIAP3_uc002clj.3_Silent_p.A287A|BAIAP3_uc010uvb.2_Silent_p.A322A|BAIAP3_uc010uvc.1_Silent_p.A270A	NM_003933	NP_001186026	O94812	BAIP3_HUMAN	Homo sapiens BAI1-associated protein 3 (BAIAP3), transcript variant 1, mRNA.	305	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGTAGAAGCGTGCAGGAAGC	0.617													A	1392020	G	A	1392020	2	1	93	1	0	0	0	0	0	0	0	1	1309	1132	40	1		1	BAIAP3	16	1392020	Silent	SNP	G	TCGA-06-5417-01A-01D-1486-08		1392020	88962733	50	6091											
PPL	5493	broad.mit.edu	37	chr16	4952435	4952435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaccagtgccgcccagTtgacctgtggatccacttcc	6	9	8	18	1	0	1	0	1	0	0	3	2	3	2	8	1	1	1	8	1	0	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr16:4952435T>C	uc002cyd.1	-	3	500	c.410A>G	c.(409-411)aAc>aGc	p.N137S		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	137					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCCGCCCAGTTGACCTGTGG	0.637													C	4952435	T	C	4952435	3	2	93	1	0	0	0	0	1	0	0	0	12416	1725	60	3	4936	3	PPL	16	4952435	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	3560415	4952435	85402318	51	6092											
TP53	7157	broad.mit.edu	37	chr17	7577517	7577517	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggagtcttccagtgtgAtgatggtgaggatgggcctc	7	11	15	8	0	1	3	0	3	1	0	3	5	2	5	3	4	0	0	3	4	0	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7577517A>C	uc002gim.2	-	6	958	c.764T>G	c.(763-765)aTc>aGc	p.I255S	TP53_uc002gig.1_Missense_Mutation_p.I255S|TP53_uc002gih.3_Missense_Mutation_p.I255S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I123S|TP53_uc010cnf.1_Missense_Mutation_p.I123S|TP53_uc002gii.1_Missense_Mutation_p.I123S|TP53_uc010cni.1_Missense_Mutation_p.I255S|TP53_uc010cnh.1_Missense_Mutation_p.I255S|TP53_uc002gij.2_Missense_Mutation_p.I255S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I162S|TP53_uc002gio.2_Missense_Mutation_p.I123S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I255S(18)|p.I255F(18)|p.I255del(14)|p.I255T(14)|p.I255N(14)|p.0?(8)|p.I254F(7)|p.I254S(6)|p.I254V(5)|p.I254fs*10(5)|p.L252_I254delLTI(4)|p.I255fs*90(4)|p.I254T(3)|p.I254N(3)|p.I254D(3)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I254del(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.I255fs*8(2)|p.I255I(2)|p.I254I(1)|p.?(1)|p.I254fs*91(1)|p.I255M(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)		TTCCAGTGTGATGATGGTGAG	0.582		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)			C	7577517	A	C	7577517	3	2	93	1	0	0	0	0	1	0	0	0	16482	333	12	5	526	5	TP53	17	7577517	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08		7577517	73617693	52	6093											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	93	1	0	0	0	0	0	1	0	0	16482	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	746	7578263	73616947	53	6094											
POLDIP2	26073	broad.mit.edu	37	chr17	26675209	26675209	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagggagaagggaggaatCcgaacatcaaagtgggagcc	14	4	15	8	1	1	1	1	0	0	1	3	6	3	4	3	4	2	0	3	4	4	0			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:26675209C>A	uc002haz.3	-	11	1165	c.1035G>T	c.(1033-1035)cgG>cgT	p.R345R	POLDIP2_uc010wag.2_Non-coding_Transcript	NM_015584	NP_056399	Q9Y2S7	PDIP2_HUMAN	Homo sapiens polymerase (DNA-directed), delta interacting protein 2 (POLDIP2), mRNA.	347	ApaG.					mitochondrial nucleoid|nucleus						all_lung(13;0.000354)|Lung NSC(42;0.00115)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGGGAGGAATCCGAACATCAA	0.547													A	26675209	C	A	26675209	2	1	93	1	0	0	0	0	0	0	0	1	12271	842	30	4		4	POLDIP2	17	26675209	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	19096946	26675209	54520001	54	6095											
CDK12	51755	broad.mit.edu	37	chr17	37618715	37618716	+	Frame_Shift_Ins	INS	-	-	A																															agctaaacagaccgaaaaagINSaaaaaagccaagaagtctcc																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr17:37618715_37618716insA	uc010cvv.3	+	0	977_978	c.391_392insA	c.(391-393)gaafs	p.E131fs	CDK12_uc010wef.1_Frame_Shift_Ins_p.E131fs|CDK12_uc002hrw.4_Frame_Shift_Ins_p.E131fs	NM_016507	NP_057591	Q9NYV4	CDK12_HUMAN	Homo sapiens cyclin-dependent kinase 12 (CDK12), transcript variant 1, mRNA.	131					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GACCGAAAAAGAAAAAAGCCAA	0.52			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			A	37618716	-	A	37618715	7	5	93	1	0	1	1	0	0	0	0	0	3158	943	33	0	393	0	CDK12	17	37618715	Frame_Shift_Ins	INS	-	TCGA-06-5417-01A-01D-1486-08	10943506	37618715	43576495	55	6096											
ZNF544	27300	broad.mit.edu	37	chr19	58772645	58772645	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctagagctttctgtcagAgtatttacttgagtaaactt	10	16	9	6	0	2	3	1	1	1	2	2	3	2	3	0	0	4	4	0	0	5	8			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr19:58772645A>C	uc010euo.3	+	6	1147	c.673A>C	c.(673-675)Agt>Cgt	p.S225R	ZNF544_uc010yhw.1_Intron|ZNF544_uc010yhx.2_Missense_Mutation_p.S197R|ZNF544_uc010yhy.2_Missense_Mutation_p.S197R|ZNF544_uc002qrt.4_Missense_Mutation_p.S83R|ZNF544_uc002qru.4_Missense_Mutation_p.S83R|BC063675_uc002qrx.1_Intron	NM_014480	NP_055295	Q6NX49	ZN544_HUMAN	Homo sapiens zinc finger protein 544 (ZNF544), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TTTCTGTCAGAGTATTTACTT	0.378													C	58772645	A	C	58772645	3	2	93	1	0	0	0	0	1	0	0	0	18078	304	11	5	687	5	ZNF544	19	58772645	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08		58772645	356338	56	6097											
PANX2	56666	broad.mit.edu	37	chr22	50615879	50615879	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcccatctcctacctgtgCacctactacgccacgcagaa	9	8	7	17	2	1	1	0	0	1	1	2	1	1	1	5	0	5	2	5	0	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chr22:50615879C>A	uc003bjn.4	+	1	738	c.738C>A	c.(736-738)tgC>tgA	p.C246*	PANX2_uc003bjp.4_Nonsense_Mutation_p.C112*|PANX2_uc003bjo.4_Nonsense_Mutation_p.C246*	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	246					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CCTACCTGTGCACCTACTACG	0.706													A	50615879	C	A	50615879	4	1	93	1	0	0	0	0	0	1	0	0	11497	718	25	4	744	4	PANX2	22	50615879	Nonsense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08		50615879	688687	57	6098											
GEMIN8	54960	broad.mit.edu	37	chrX	14027172	14027172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcttcatctcggcctggcGccgctcaccaggcctctcag	5	8	10	18	4	4	0	3	0	2	0	6	0	4	0	4	3	0	2	4	3	0	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:14027172G>A	uc004cwb.3	-	4	932	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	GEMIN8_uc004cwc.3_Missense_Mutation_p.R197C|GEMIN8_uc004cwd.3_Missense_Mutation_p.R197C	NM_017856	NP_060326	Q9NWZ8	GEMI8_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 8 (GEMIN8), transcript variant 3, mRNA.	197					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						TCGGCCTGGCGCCGCTCACCA	0.612													A	14027172	G	A	14027172	3	1	93	1	0	0	0	0	1	0	0	0	6390	1087	38	1	143	1	GEMIN8	23	14027172	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08		14027172	141243388	58	6099											
ZNF645	158506	broad.mit.edu	37	chrX	22292090	22292090	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatcatctggatatattAttgtaaaggtgccacctgat	12	14	7	8	0	2	1	1	1	1	0	3	2	3	2	3	2	1	1	3	2	5	5			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:22292090A>T	uc004dai.2	+	0	1061	c.982A>T	c.(982-984)Att>Ttt	p.I328F		NM_152577	NP_689790	Q8N7E2	ZN645_HUMAN	Homo sapiens zinc finger protein 645 (ZNF645), mRNA.	328	Pro-rich.					intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						TGGATATATTATTGTAAAGGT	0.438													T	22292090	A	T	22292090	3	4	93	1	0	0	0	0	1	0	0	0	18162	449	16	5	984	5	ZNF645	23	22292090	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	8264918	22292090	132978470	59	6100											
CXorf22	170063	broad.mit.edu	37	chrX	35985840	35985840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcaatcagccatgacaCgcactcacaatcatcgctca	12	9	5	15	2	5	1	5	1	0	0	6	1	5	1	1	0	2	3	1	0	2	1			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:35985840C>T	uc004ddj.3	+	9	1771	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	569										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGCCATGACACGCACTCACAA	0.453													T	35985840	C	T	35985840	3	4	93	1	0	0	0	0	1	0	0	0	4135	536	19	1	1743	1	CXorf22	23	35985840	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	13693750	35985840	119284720	60	6101											
EFHC2	80258	broad.mit.edu	37	chrX	44037748	44037748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggcacacggtagtgaCgtgcaatggttacaaattct	11	10	10	10	2	2	1	1	1	1	0	2	1	2	1	1	3	2	4	1	3	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:44037748C>A	uc004dgb.4	-	11	1903	c.1814G>T	c.(1813-1815)cGt>cTt	p.R605L	EFHC2_uc022bvg.1_Missense_Mutation_p.R183L	NM_025184	NP_079460	Q5JST6	EFHC2_HUMAN	Homo sapiens EF-hand domain (C-terminal) containing 2 (EFHC2), mRNA.	605							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						ACGGTAGTGACGTGCAATGGT	0.373													A	44037748	C	A	44037748	3	1	93	1	0	0	0	0	1	0	0	0	4986	536	19	4	451	4	EFHC2	23	44037748	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	8051908	44037748	111232812	61	6102											
ZNF674	641339	broad.mit.edu	37	chrX	46388335	46388335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacacgtccttgaaggTcaatgattcctgtaacggca	13	9	8	11	2	1	2	1	2	0	0	3	2	3	2	2	2	2	2	2	2	4	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:46388335T>C	uc004dgr.3	-	3	252	c.25A>G	c.(25-27)Acc>Gcc	p.T9A	ZNF674_uc011mlg.2_Missense_Mutation_p.T9A|ZNF674_uc022bvl.1_Missense_Mutation_p.T9A|ZNF674_uc010nhm.2_Missense_Mutation_p.T9A	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	9	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TCCTTGAAGGTCAATGATTCC	0.552													C	46388335	T	C	46388335	3	2	93	1	0	0	0	0	1	0	0	0	18182	1667	58	3	1732	3	ZNF674	23	46388335	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	2350587	46388335	108882225	62	6103											
CCDC120	90060	broad.mit.edu	37	chrX	48920041	48920041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggtgaagtcagagcGtctgcgggggctgcttgacc	6	7	15	13	2	2	3	1	2	1	1	2	3	2	3	3	3	3	2	3	3	1	1	rs147084360		TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:48920041G>A	uc011mmr.2	+	3	384	c.92G>A	c.(91-93)cGt>cAt	p.R31H	CCDC120_uc010nik.3_Missense_Mutation_p.R31H|CCDC120_uc011mmq.2_Missense_Mutation_p.R19H|CCDC120_uc004dmf.3_Missense_Mutation_p.R31H|CCDC120_uc010nil.3_Missense_Mutation_p.R31H|CCDC120_uc011mms.2_Missense_Mutation_p.R19H|CCDC120_uc004dmg.1_Silent_p.A109A	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	31							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						AAGTCAGAGCGTCTGCGGGGG	0.647													A	48920041	G	A	48920041	3	1	93	1	0	0	0	0	1	0	0	0	2782	1145	40	1	98	1	CCDC120	23	48920041	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	2531706	48920041	106350519	63	6104											
LAS1L	81887	broad.mit.edu	37	chrX	64737941	64737941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctagcattctcggcagtgGgggactcttgccctgtagag	6	10	14	11	1	2	1	0	0	2	1	3	2	2	2	2	3	2	3	2	3	2	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:64737941G>T	uc004dwa.2	-	11	1944	c.1853C>A	c.(1852-1854)cCc>cAc	p.P618H	LAS1L_uc004dwc.2_Missense_Mutation_p.P601H|LAS1L_uc004dwd.2_Missense_Mutation_p.P559H|LAS1L_uc004dvz.2_Missense_Mutation_p.P131H|LAS1L_uc004dvy.1_Missense_Mutation_p.P131H	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	618						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCGGCAGTGGGGGACTCTTG	0.517													T	64737941	G	T	64737941	3	4	93	1	0	0	0	0	1	0	0	0	8695	1232	43	4	363	4	LAS1L	23	64737941	Missense_Mutation	SNP	G	TCGA-06-5417-01A-01D-1486-08	15817900	64737941	90532619	64	6105											
STARD8	9754	broad.mit.edu	37	chrX	67943638	67943638	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggagctgtaccactatgtCaccgacagcatggcacccca	10	7	10	14	1	1	0	1	0	0	0	1	2	1	1	4	2	3	4	4	2	2	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:67943638C>G	uc004dxb.3	+	12	3184	c.2970C>G	c.(2968-2970)gtC>gtG	p.V990V	STARD8_uc004dxa.3_Silent_p.V910V|STARD8_uc004dxc.4_Silent_p.V910V	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	910	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						ACCACTATGTCACCGACAGCA	0.652													G	67943638	C	G	67943638	2	3	93	1	0	0	0	0	0	0	0	1	15359	813	29	4		4	STARD8	23	67943638	Silent	SNP	C	TCGA-06-5417-01A-01D-1486-08	3205697	67943638	87326922	65	6106											
ZMYM3	9203	broad.mit.edu	37	chrX	70469372	70469372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttggccctcgtggaagAggagctcagggccaggactc	7	9	15	10	1	1	1	1	0	0	1	3	4	1	4	2	5	1	2	2	5	1	2			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:70469372A>G	uc004dzh.2	-	6	1588	c.1409T>C	c.(1408-1410)cTc>cCc	p.L470P	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Missense_Mutation_p.L470P|ZMYM3_uc004dzj.2_Missense_Mutation_p.L470P|ZMYM3_uc011mpu.2_Missense_Mutation_p.L201P|ZMYM3_uc004dzl.4_Missense_Mutation_p.L470P	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	470					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGTGGAAGAGGAGCTCAGG	0.562													G	70469372	A	G	70469372	3	3	93	1	0	0	0	0	1	0	0	0	17802	304	11	3	2797	3	ZMYM3	23	70469372	Missense_Mutation	SNP	A	TCGA-06-5417-01A-01D-1486-08	2525734	70469372	84801188	66	6107											
ATRX	546	broad.mit.edu	37	chrX	76778818	76778818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtccaaaagagaatcaTgttcatggtatcctacaatg	13	12	9	7	0	2	1	2	0	0	1	4	2	4	1	2	2	1	2	2	2	6	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:76778818T>C	uc004ecp.4	-	30	6993	c.6761A>G	c.(6760-6762)cAt>cGt	p.H2254R	ATRX_uc004ecq.4_Missense_Mutation_p.H2216R|ATRX_uc004eco.4_Missense_Mutation_p.H2039R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2254					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.H2254R(2)		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)	AAGAGAATCATGTTCATGGTA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76778818	T	C	76778818	3	2	93	1	0	0	0	0	1	0	0	0	1213	1464	51	3	737	3	ATRX	23	76778818	Missense_Mutation	SNP	T	TCGA-06-5417-01A-01D-1486-08	6309446	76778818	78491742	67	6108											
HDX	139324	broad.mit.edu	37	chrX	83724095	83724095	+	Frame_Shift_Del	DEL	C	C	-																															ggtcggtggcacacagaaggCttttgaggtactgtcatttc																										TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:83724095delC	uc011mqv.2	-	3	883	c.636delG	c.(634-636)aagfs	p.K212fs	HDX_uc004eel.2_Frame_Shift_Del_p.K154fs|HDX_uc004eek.2_Frame_Shift_Del_p.K212fs	NM_001177479	NP_001170949	Q7Z353	HDX_HUMAN	Homo sapiens highly divergent homeobox (HDX), transcript variant 1, mRNA.	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ACACAGAAGGCTTTTGAGGTA	0.418													-	83724095	C	-	83724095	7	5	93	1	0	1	0	1	0	0	0	0	7081	796	28	0	1468	0	HDX	23	83724095	Frame_Shift_Del	DEL	C	TCGA-06-5417-01A-01D-1486-08	6945277	83724095	71546465	68	6109											
COL4A5	1287	broad.mit.edu	37	chrX	107840792	107840792	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcctggcccgaaaggAgagcctgtgagttggtttga	7	10	16	8	1	0	3	0	2	0	1	1	5	1	3	3	4	1	3	3	4	1	3			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:107840792A>G	uc022ccg.1	+	23	1975	c.1773A>G	c.(1771-1773)ggA>ggG	p.G591G	COL4A5_uc004enz.1_Silent_p.G591G|COL4A5_uc004eob.1_Silent_p.G199G	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	591	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GCCCGAAAGGAGAGCCTGTGA	0.463									Alport syndrome with Diffuse Leiomyomatosis				G	107840792	A	G	107840792	2	3	93	1	0	0	0	0	0	0	0	1	3725	291	11	3		3	COL4A5	23	107840792	Silent	SNP	A	TCGA-06-5417-01A-01D-1486-08	24116697	107840792	47429768	69	6110											
GUCY2F	2986	broad.mit.edu	37	chrX	108708484	108708484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaacactgcatcataggCttcccggagctttgggttgt	7	12	12	10	1	2	0	2	0	0	0	3	1	3	1	1	4	3	4	1	4	2	4			TCGA-06-5417-01A-01D-1486-08	TCGA-06-5417-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66350d36-6662-4d4c-9cf8-e052a17cddba	07503119-3ce1-41af-85e6-3f90b92a8c62	g.chrX:108708484C>T	uc022cch.1	-	1	1004	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	GUCY2F_uc011msq.2_Non-coding_Transcript|GUCY2F_uc004eod.4_Missense_Mutation_p.A307T	NM_001522	NP_001513	P51841	GUC2F_HUMAN	Homo sapiens guanylate cyclase 2F, retinal (GUCY2F), mRNA.	307					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCATCATAGGCTTCCCGGAGC	0.488													T	108708484	C	T	108708484	3	4	93	1	0	0	0	0	1	0	0	0	6953	797	28	2	2475	2	GUCY2F	23	108708484	Missense_Mutation	SNP	C	TCGA-06-5417-01A-01D-1486-08	867692	108708484	46562076	70	6111											
GPR153	387509	broad.mit.edu	37	chr1	6311445	6311445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggccatgcacttctccCggacagctttgaggtcagcc	7	9	12	13	1	2	2	1	2	1	0	3	3	2	3	3	3	3	2	3	3	0	2	rs139457263		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:6311445C>T	uc001amp.2	-	3	1192	c.932G>A	c.(931-933)cGg>cAg	p.R311Q		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		GCACTTCTCCCGGACAGCTTT	0.637													T	6311445	C	T	6311445	3	4	94	1	0	0	0	0	1	0	0	0	6713	652	23	1	909	1	GPR153	1	6311445	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		6311445	242939176	1	6112											
DMBX1	127343	broad.mit.edu	37	chr1	46976764	46976764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactgagcagcccccacGtctgcctggcagcgaccccc	7	4	11	19	2	1	1	0	1	1	0	1	3	1	2	5	2	4	2	5	2	0	0			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:46976764G>A	uc001cpx.3	+	2	521	c.506G>A	c.(505-507)cGt>cAt	p.R169H	DMBX1_uc001cpw.3_Missense_Mutation_p.R164H	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	169					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R169H(2)		endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					CAGCCCCCACGTCTGCCTGGC	0.652													A	46976764	G	A	46976764	3	1	94	1	0	0	0	0	1	0	0	0	4617	1145	40	1	516	1	DMBX1	1	46976764	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	40665319	46976764	202273857	2	6113											
TCHH	7062	broad.mit.edu	37	chr1	152081245	152081245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggaattttctgtcaCgctcttggcggtgcagctgc	5	12	11	13	2	3	0	1	0	2	0	4	1	4	1	2	3	3	3	2	3	1	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:152081245C>T	uc009wne.1	-	2	4720	c.4448G>A	c.(4447-4449)cGt>cAt	p.R1483H	TCHH_uc001ezp.2_Missense_Mutation_p.R1483H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1483	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTCACGCTCTTGGCG	0.557													T	152081245	C	T	152081245	3	4	94	1	0	0	0	0	1	0	0	0	15800	536	19	1	1387	1	TCHH	1	152081245	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	105104481	152081245	97169376	3	6114											
F5	2153	broad.mit.edu	37	chr1	169509611	169509611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttccattgttgctgcGgaggtaccatgctgcaatgt	6	15	11	9	1	1	0	0	0	1	0	2	1	2	1	2	2	5	6	2	2	2	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:169509611G>A	uc001ggg.1	-	12	4862	c.4717C>T	c.(4717-4719)Cgc>Tgc	p.R1573C		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1573	B.	Cleavage; by thrombin.			cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTGTTGCTGCGGAGGTACCAT	0.398													A	169509611	G	A	169509611	3	1	94	1	0	0	0	0	1	0	0	0	5390	1116	39	1	2009	1	F5	1	169509611	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	17428366	169509611	79741010	4	6115											
IPO9	55705	broad.mit.edu	37	chr1	201823997	201823997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccaaagcacatggtgtcctCcatgcagcagattctgccta	10	9	8	14	0	1	1	0	0	1	1	3	1	3	1	4	1	4	3	4	1	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr1:201823997C>T	uc001gwz.3	+	7	907	c.857C>T	c.(856-858)tCc>tTc	p.S286F		NM_018085	NP_060555	Q96P70	IPO9_HUMAN	Homo sapiens importin 9 (IPO9), mRNA.	286					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						ATGGTGTCCTCCATGCAGCAG	0.403													T	201823997	C	T	201823997	3	4	94	1	0	0	0	0	1	0	0	0	7857	855	30	2	887	2	IPO9	1	201823997	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	32314386	201823997	47426624	5	6116											
ABCG5	64240	broad.mit.edu	37	chr2	44065792	44065792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagacccatggaccctccGggggtcaaagatgagaggtc	10	6	15	10	1	1	3	1	1	0	3	3	6	2	4	3	5	0	0	3	5	1	0	rs72542428		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:44065792G>A	uc002rtn.3	-	0	167	c.27C>T	c.(25-27)ccC>ccT	p.P9P	ABCG5_uc002rto.3_5'UTR|ABCG5_uc002rtp.3_5'UTR|ABCG8_uc002rtq.3_5'Flank|ABCG8_uc010yoa.2_5'Flank	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	9					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGGACCCTCCGGGGGTCAAAG	0.637													A	44065792	G	A	44065792	2	1	94	1	0	0	0	0	0	0	0	1	71	1103	39	1		1	ABCG5	2	44065792	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		44065792	199133581	6	6117											
SPTBN1	6711	broad.mit.edu	37	chr2	54856719	54856719	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccaggagcatgccgaGtctccagacgtgaggggcag	8	5	14	14	2	1	2	0	1	1	1	3	4	2	3	4	3	2	2	4	3	0	0			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:54856719G>A	uc002rxu.3	+	13	2697	c.2448G>A	c.(2446-2448)gaG>gaA	p.E816E	SPTBN1_uc002rxv.1_Silent_p.E816E|SPTBN1_uc002rxx.3_Silent_p.E803E	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 1 (SPTBN1), transcript variant 1, mRNA.	816					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCATGCCGAGTCTCCAGACG	0.627													A	54856719	G	A	54856719	2	1	94	1	0	0	0	0	0	0	0	1	15215	1020	36	2		2	SPTBN1	2	54856719	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	10790927	54856719	188342654	7	6118											
GTDC1	79712	broad.mit.edu	37	chr2	144899603	144899603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attaaaaactgagttgaataCaaccacatcagccaccaggc	17	7	6	11	0	1	2	1	2	0	0	1	2	1	2	3	1	4	1	3	1	6	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:144899603C>T	uc002tvp.3	-	5	646	c.367G>A	c.(367-369)Gta>Ata	p.V123I	GTDC1_uc002tvo.3_Missense_Mutation_p.V123I|GTDC1_uc021vqf.1_Missense_Mutation_p.V123I|GTDC1_uc010fnn.3_Missense_Mutation_p.V123I|GTDC1_uc002tvs.3_Missense_Mutation_p.V91I|GTDC1_uc021vqg.1_Missense_Mutation_p.V123I|GTDC1_uc002tvr.3_Missense_Mutation_p.V123I|GTDC1_uc010fno.3_5'UTR|GTDC1_uc002tvt.2_Missense_Mutation_p.V123I	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	123					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GAGTTGAATACAACCACATCA	0.383													T	144899603	C	T	144899603	3	4	94	1	0	0	0	0	1	0	0	0	6906	478	17	2	1037	2	GTDC1	2	144899603	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	90042884	144899603	98299770	8	6119											
GALNT3	2591	broad.mit.edu	37	chr2	166627133	166627133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actattataaagaaaaaaatTactgcaccaagcttccagaa	20	9	4	8	0	0	2	0	0	0	2	1	2	1	2	2	0	3	2	2	0	10	5			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:166627133T>C	uc010fph.1	-	1	465	c.78A>G	c.(76-78)gtA>gtG	p.V26V	GALNT3_uc010fpi.1_Silent_p.V26V|GALNT3_uc002udi.2_Silent_p.V26V	NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	26					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AGAAAAAAATTACTGCACCAA	0.313													C	166627133	T	C	166627133	2	2	94	1	0	0	0	0	0	0	0	1	6268	1741	61	3		3	GALNT3	2	166627133	Silent	SNP	T	TCGA-06-5418-01A-01D-1486-08	21727530	166627133	76572240	9	6120											
TLK1	9874	broad.mit.edu	37	chr2	171902709	171902710	+	Frame_Shift_Ins	INS	-	-	GG																															ggtaaatttggtctaacaaaINSgggatcattctctgctccat																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr2:171902709_171902710insGG	uc002ugo.2	-	11	1678_1679	c.1206_1207insCC	c.(1204-1209)ccctttfs	p.P402fs	TLK1_uc002ugn.2_Frame_Shift_Ins_p.P381fs|TLK1_uc002ugp.2_Frame_Shift_Ins_p.P333fs|TLK1_uc002ugq.2_Non-coding_Transcript|TLK1_uc010zdn.1_Frame_Shift_Ins_p.P285fs|TLK1_uc002ugr.1_Frame_Shift_Ins_p.P164fs	NM_001136554	NP_036422	Q9UKI8	TLK1_HUMAN	Homo sapiens tousled-like kinase 1 (TLK1), transcript variant 2, mRNA.	381					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GGTCTAACAAAGGGATCATTCT	0.366													GG	171902710	-	GG	171902709	7	5	94	1	0	1	1	0	0	0	0	0	16043	72	3	0	1200	0	TLK1	2	171902709	Frame_Shift_Ins	INS	-	TCGA-06-5418-01A-01D-1486-08	5275576	171902709	71296664	10	6121											
CAMK1	8536	broad.mit.edu	37	chr3	9799491	9799491	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgcccagctgcagttTcctcatgtgccgcaccacag	6	9	11	15	1	1	0	1	0	0	0	2	0	2	0	4	1	4	5	4	1	0	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:9799491T>A	uc003bst.3	-	10	1137	c.952A>T	c.(952-954)Aaa>Taa	p.K318*	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_Nonsense_Mutation_p.K92*|AX748417_uc003bsv.1_5'Flank	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	318					cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		AGCTGCAGTTTCCTCATGTGC	0.612													A	9799491	T	A	9799491	4	1	94	1	0	0	0	0	0	1	0	0	2622	1792	62	5	168	5	CAMK1	3	9799491	Nonsense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08		9799491	188222939	11	6122											
VHL	7428	broad.mit.edu	37	chr3	10183867	10183867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccgccgcatccacagctaCcgaggtacgggcccggcgct	6	4	14	17	6	0	0	0	0	0	0	1	1	1	0	5	4	3	4	5	4	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:10183867C>T	uc003bvc.3	+	0	549	c.336C>T	c.(334-336)taC>taT	p.Y112Y	VHL_uc003bvd.3_Silent_p.Y112Y	NM_000551	NP_000542	P40337	VHL_HUMAN	Homo sapiens von Hippel-Lindau tumor suppressor (VHL), transcript variant 1, mRNA.	112	Involved in binding to CCT complex.		Y -> H (in VHLD; type IIA).|Y -> N (in VHLD).		anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.S111N(5)|p.Y112*(4)|p.Y112fs*1(4)|p.S111R(3)|p.S111S(2)|p.S111fs*48(2)|p.I109_R113del(2)|p.S111fs*45(2)|p.S111G(2)|p.S111I(2)|p.S111_Y112del(2)|p.S111fs*49(1)|p.?(1)|p.Y112D(1)|p.S111fs*22(1)|p.R113fs*46(1)|p.H110_S111del(1)|p.Y112fs*47(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		TCCACAGCTACCGAGGTACGG	0.697		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				T	10183867	C	T	10183867	2	4	94	1	0	0	0	0	0	0	0	1	17264	518	18	2		2	VHL	3	10183867	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	384376	10183867	187838563	12	6123											
OR5K1	26339	broad.mit.edu	37	chr3	98188932	98188932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggttagttttctgtggatCgaatcacatcaaccactttt	10	16	7	8	1	3	0	2	0	1	0	4	2	3	1	1	2	1	2	1	2	4	6			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:98188932C>T	uc003dsm.3	+	0	512	c.512C>T	c.(511-513)tCg>tTg	p.S171L		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S171L(2)|p.G170A(1)|p.S171T(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTCTGTGGATCGAATCACATC	0.398													T	98188932	C	T	98188932	3	4	94	1	0	0	0	0	1	0	0	0	11242	893	31	1	514	1	OR5K1	3	98188932	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	88005065	98188932	99833498	13	6124											
FSTL1	11167	broad.mit.edu	37	chr3	120123732	120123732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctcctggtctggataCgttgtaatattgatggcagt	7	17	11	6	1	2	1	0	1	2	0	3	2	2	2	1	3	1	4	1	3	3	7	rs138829728	by1000genomes	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:120123732C>T	uc003eds.3	-	6	724	c.549G>A	c.(547-549)acG>acA	p.T183T	FSTL1_uc011bjh.2_Silent_p.T148T	NM_007085	NP_009016	Q12841	FSTL1_HUMAN	Homo sapiens follistatin-like 1 (FSTL1), mRNA.	183					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		GGTCTGGATACGTTGTAATAT	0.448													T	120123732	C	T	120123732	2	4	94	1	0	0	0	0	0	0	0	1	6129	523	19	1		1	FSTL1	3	120123732	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	21934800	120123732	77898698	14	6125											
IGSF10	285313	broad.mit.edu	37	chr3	151166049	151166049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccattttcctgataggcttCgaccaaaggttctaccacag	10	11	7	13	1	1	1	0	1	1	0	3	2	2	1	4	2	1	2	4	2	3	6	rs116716539	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr3:151166049C>T	uc011bod.2	-	3	1720	c.1720G>A	c.(1720-1722)Gaa>Aaa	p.E574K		NM_178822	NP_849144	Q6WRI0	IGS10_HUMAN	Homo sapiens immunoglobulin superfamily, member 10 (IGSF10), transcript variant 1, mRNA.	574	Ig-like C2-type 2.				cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGATAGGCTTCGACCAAAGGT	0.413													T	151166049	C	T	151166049	3	4	94	1	0	0	0	0	1	0	0	0	7655	893	31	1	6211	1	IGSF10	3	151166049	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	31042317	151166049	46856381	15	6126											
TMEM156	80008	broad.mit.edu	37	chr4	39000377	39000377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtcctggtgaagttacGaaaattggagggatttagaa	14	10	13	4	1	0	2	0	1	0	1	1	5	1	4	1	3	1	2	1	3	7	4	rs13118782		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:39000377G>A	uc003gto.3	-	1	349	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C	TMEM156_uc010ifj.3_Missense_Mutation_p.R81C	NM_024943	NP_079219	Q8N614	TM156_HUMAN	Homo sapiens transmembrane protein 156 (TMEM156), mRNA.	81						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						GTGAAGTTACGAAAATTGGAG	0.368													A	39000377	G	A	39000377	3	1	94	1	0	0	0	0	1	0	0	0	16173	1058	37	1	669	1	TMEM156	4	39000377	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		39000377	152153899	16	6127											
UGT2B7	7364	broad.mit.edu	37	chr4	69973993	69973993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggacttcaacacaatgtcGagtacagacttgctgaatgc	12	10	10	9	1	1	2	1	1	0	1	2	4	1	3	0	1	4	2	0	1	4	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:69973993G>A	uc003heg.4	+	4	1309	c.1263G>A	c.(1261-1263)tcG>tcA	p.S421S	UGT2B7_uc010ihq.3_Intron	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	421					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ACACAATGTCGAGTACAGACT	0.423													A	69973993	G	A	69973993	2	1	94	1	0	0	0	0	0	0	0	1	17064	1045	37	1		1	UGT2B7	4	69973993	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	30973616	69973993	121180283	17	6128											
TRPC3	7222	broad.mit.edu	37	chr4	122833104	122833104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccctgaagatctgtttggGatagtcagtaactgtgatat	11	13	10	7	0	2	3	1	2	1	1	2	4	2	4	1	1	1	2	1	1	4	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:122833104G>C	uc003ieg.2	-	4	1560	c.1486C>G	c.(1486-1488)Ccc>Gcc	p.P496A	TRPC3_uc010inr.2_Missense_Mutation_p.P368A|TRPC3_uc003ief.2_Missense_Mutation_p.P423A|TRPC3_uc011cgl.1_Missense_Mutation_p.P160A	NM_001130698	NP_001124170	Q13507	TRPC3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 3 (TRPC3), transcript variant 1, mRNA.	411					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						ATCTGTTTGGGATAGTCAGTA	0.423													C	122833104	G	C	122833104	3	2	94	1	0	0	0	0	1	0	0	0	16680	1174	41	4	1311	4	TRPC3	4	122833104	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	52859111	122833104	68321172	18	6129											
TBC1D9	23158	broad.mit.edu	37	chr4	141600954	141600954	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacttctccgtgtcatcaTcttcctttacatcattgatt	9	18	3	11	1	5	1	3	1	2	0	7	1	6	1	2	0	2	0	2	0	3	7			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr4:141600954T>A	uc010ioj.3	-	3	676	c.404A>T	c.(403-405)gAt>gTt	p.D135V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	135						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CGTGTCATCATCTTCCTTTAC	0.368													A	141600954	T	A	141600954	3	1	94	1	0	0	0	0	1	0	0	0	15727	1435	50	5	3468	5	TBC1D9	4	141600954	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08	18767850	141600954	49553322	19	6130											
TERT	7015	broad.mit.edu	37	chr5	1260707	1260707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggctctgatggaggtcCgggcatagctgagacacagg	9	7	16	9	1	1	2	0	2	1	1	2	5	2	3	1	5	1	3	1	5	1	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:1260707C>T	uc003jcb.1	-	11	2910	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q	TERT_uc003jbz.1_Missense_Mutation_p.R147Q|TERT_uc003jcc.1_Missense_Mutation_p.R888Q|TERT_uc003jca.1_Missense_Mutation_p.R939Q|TERT_uc003jcd.1_Non-coding_Transcript|TERT_uc003jce.1_Non-coding_Transcript|TERT_uc021xvz.1_Intron|TERT_uc021xwa.1_Intron|TERT_uc021xwb.1_Missense_Mutation_p.R103Q	NM_198253	NP_937983	O14746	TERT_HUMAN	Homo sapiens telomerase reverse transcriptase (TERT), transcript variant 1, mRNA.	951	CTE.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GATGGAGGTCCGGGCATAGCT	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				T	1260707	C	T	1260707	3	4	94	1	0	0	0	0	1	0	0	0	15864	652	23	1	566	1	TERT	5	1260707	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		1260707	179654553	20	6131											
ZNF366	167465	broad.mit.edu	37	chr5	71752388	71752388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagcagggtgaactccCgcccacaaatcccacactta	11	6	8	16	1	0	1	0	1	0	0	2	1	2	1	4	2	2	1	4	2	3	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:71752388C>T	uc003kce.1	-	2	1553	c.1367G>A	c.(1366-1368)cGg>cAg	p.R456Q		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	456					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GGTGAACTCCCGCCCACAAAT	0.527													T	71752388	C	T	71752388	3	4	94	1	0	0	0	0	1	0	0	0	17971	652	23	1	879	1	ZNF366	5	71752388	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	70491681	71752388	109162872	21	6132											
GABRB2	2561	broad.mit.edu	37	chr5	160753407	160753407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatcgtaattggtagtccGtctagttggggagaggtttc	9	13	14	5	2	1	1	0	0	1	1	4	3	2	1	1	4	0	4	1	4	4	6	rs140795978		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr5:160753407G>A	uc003lys.1	-	9	1377	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	GABRB2_uc011deh.1_Intron|GABRB2_uc003lyr.1_Intron|GABRB2_uc003lyt.1_Intron	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	387					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	ttggtagtccgtctagttggg	0.383													A	160753407	G	A	160753407	3	1	94	1	0	0	0	0	1	0	0	0	6219	1144	40	1	387	1	GABRB2	5	160753407	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	89001019	160753407	20161853	22	6133											
PKHD1	5314	broad.mit.edu	37	chr6	51941108	51941108	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggataaacttggtgaacGatgggtgtctgcgccttgga	8	11	16	6	2	1	1	0	1	1	0	1	4	1	3	1	5	3	0	1	5	3	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:51941108G>A	uc003pah.1	-	5	690	c.414C>T	c.(412-414)atC>atT	p.I138I	PKHD1_uc003pai.3_Silent_p.I138I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	138	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGGTGAACGATGGGTGTCT	0.393													A	51941108	G	A	51941108	2	1	94	1	0	0	0	0	0	0	0	1	12048	1048	37	1		1	PKHD1	6	51941108	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		51941108	119173959	23	6134											
KCNQ5	56479	broad.mit.edu	37	chr6	73843328	73843328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcttccggccctcgctgCgcctcaaaagttctcagcca	6	8	8	19	4	2	0	2	0	1	0	5	0	3	0	5	1	2	3	5	1	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr6:73843328C>T	uc011dyh.2	+	10	1836	c.1489C>T	c.(1489-1491)Cgc>Tgc	p.R497C	KCNQ5_uc011dyi.2_Missense_Mutation_p.R488C|KCNQ5_uc010kat.3_Missense_Mutation_p.R469C|KCNQ5_uc003pgk.3_Missense_Mutation_p.R478C|KCNQ5_uc011dyj.2_Intron|KCNQ5_uc011dyk.2_Missense_Mutation_p.R228C	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	478					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GCCCTCGCTGCGCCTCAAAAG	0.512													T	73843328	C	T	73843328	3	4	94	1	0	0	0	0	1	0	0	0	8144	768	27	1	1531	1	KCNQ5	6	73843328	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	21902220	73843328	97271739	24	6135											
MACC1	346389	broad.mit.edu	37	chr7	20199376	20199376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caagttgtgtctgggcccatCcagggctctgactaattgta	8	12	11	10	0	2	1	0	1	2	0	3	1	3	1	2	2	0	3	2	2	3	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:20199376C>G	uc003sus.4	-	4	917	c.608G>C	c.(607-609)gGa>gCa	p.G203A	MACC1_uc010kug.3_Missense_Mutation_p.G203A	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	203					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CTGGGCCCATCCAGGGCTCTG	0.473													G	20199376	C	G	20199376	3	3	94	1	0	0	0	0	1	0	0	0	9214	855	30	4	1962	4	MACC1	7	20199376	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		20199376	138939287	25	6136											
AMPH	273	broad.mit.edu	37	chr7	38471801	38471801	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcttaccgtccataggtcCcagggcaatgtctgaaagca	10	9	11	11	1	1	1	0	1	1	0	3	1	3	1	3	3	2	3	3	3	4	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:38471801C>T	uc003tgu.3	-	12	1362	c.1146G>A	c.(1144-1146)tgG>tgA	p.W382*	AMPH_uc003tgv.3_Nonsense_Mutation_p.W382*|AMPH_uc003tgt.3_Nonsense_Mutation_p.W135*|AMPH_uc003tgw.1_5'Flank|AMPH_uc010kxl.1_5'Flank	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	382					endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		p.W382*(2)		breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TCCATAGGTCCCAGGGCAATG	0.318													T	38471801	C	T	38471801	4	4	94	1	0	0	0	0	0	1	0	0	588	624	22	2	977	2	AMPH	7	38471801	Nonsense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	18272425	38471801	120666862	26	6137											
ADCY1	107	broad.mit.edu	37	chr7	45717648	45717648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgaagtacaaacatgtcGaacgggagcaaaaggtaagc	16	5	11	9	2	0	1	0	1	0	0	1	3	0	2	1	2	5	3	1	2	7	2	rs147187783		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:45717648G>A	uc003tne.4	+	8	1804	c.1786G>A	c.(1786-1788)Gaa>Aaa	p.E596K		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	596					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CAAACATGTCGAACGGGAGCA	0.557													A	45717648	G	A	45717648	3	1	94	1	0	0	0	0	1	0	0	0	292	1059	37	1	1820	1	ADCY1	7	45717648	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	7245847	45717648	113421015	27	6138											
POM121L12	285877	broad.mit.edu	37	chr7	53103406	53103406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtccgcagacctcgggaaCttctggaaggcgggagaacc	10	5	15	11	3	1	2	0	0	1	2	3	6	2	4	3	4	2	1	3	4	3	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:53103406C>T	uc003tpz.3	+	0	58	c.42C>T	c.(40-42)aaC>aaT	p.N14N		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	14										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACCTCGGGAACTTCTGGAAGG	0.706													T	53103406	C	T	53103406	2	4	94	1	0	0	0	0	0	0	0	1	12318	564	20	2		2	POM121L12	7	53103406	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	7385758	53103406	106035257	28	6139											
FKBP6	8468	broad.mit.edu	37	chr7	72744235	72744235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgttcaaaccgaactaCgcctatggaacgctgggctg	9	11	10	11	3	2	0	1	0	1	0	2	2	2	1	2	2	4	3	2	2	5	4			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:72744235C>T	uc003tya.2	+	3	480	c.348C>T	c.(346-348)taC>taT	p.Y116Y	FKBP6_uc003twz.2_Intron|FKBP6_uc011kew.1_Silent_p.Y111Y|FKBP6_uc010lbe.1_Non-coding_Transcript|TRIM50_uc003txy.1_5'Flank|TRIM50_uc003txz.1_5'Flank	NM_003602	NP_003593	O75344	FKBP6_HUMAN	Homo sapiens FK506 binding protein 6, 36kDa (FKBP6), transcript variant 1, mRNA.	116	PPIase FKBP-type.				protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				AACCGAACTACGCCTATGGAA	0.537													T	72744235	C	T	72744235	2	4	94	1	0	0	0	0	0	0	0	1	5961	547	19	1		1	FKBP6	7	72744235	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	19640829	72744235	86394428	29	6140											
MUC17	140453	broad.mit.edu	37	chr7	100680821	100680821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacctcaactcctagtgaaCggaccactccattagcaggt	13	8	7	13	1	1	1	1	1	0	0	3	2	3	2	4	2	4	1	4	2	5	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:100680821C>T	uc003uxp.1	+	2	6177	c.6124C>T	c.(6124-6126)Cgg>Tgg	p.R2042W	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2042	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.R2042W(2)|p.E2041K(1)|p.R2042L(1)		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)					TCCTAGTGAACGGACCACTCC	0.502													T	100680821	C	T	100680821	3	4	94	1	0	0	0	0	1	0	0	0	10050	527	19	1	6134	1	MUC17	7	100680821	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	27936586	100680821	58457842	30	6141											
PIK3CG	5294	broad.mit.edu	37	chr7	106508855	106508855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatgagtacctggtgggCgaaacgcccatcaaaaactt	12	7	12	10	3	1	1	1	1	0	0	1	3	1	2	2	3	3	1	2	3	4	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr7:106508855C>T	uc003vdv.4	+	1	934	c.849C>T	c.(847-849)ggC>ggT	p.G283G	PIK3CG_uc003vdu.3_Silent_p.G283G|PIK3CG_uc003vdw.3_Silent_p.G283G	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	283					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.G283G(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCTGGTGGGCGAAACGCCCA	0.552													T	106508855	C	T	106508855	2	4	94	1	0	0	0	0	0	0	0	1	11993	755	27	1		1	PIK3CG	7	106508855	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	5828034	106508855	52629808	31	6142											
PTDSS1	9791	broad.mit.edu	37	chr8	97345772	97345772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattccaagtcaaaagtcaCcaatggcgttggaaagaaat	16	8	9	8	1	2	1	2	0	0	1	3	2	3	2	2	2	0	2	2	2	6	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr8:97345772C>G	uc003yht.1	+	12	1502	c.1400C>G	c.(1399-1401)aCc>aGc	p.T467S	PTDSS1_uc003yhu.1_Missense_Mutation_p.T321S	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	467					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCAAAAGTCACCAATGGCGTT	0.473											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	97345772	C	G	97345772	3	3	94	1	0	0	0	0	1	0	0	0	12821	507	18	4	1450	4	PTDSS1	8	97345772	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		97345772	49018250	32	6143											
ACTL7B	10880	broad.mit.edu	37	chr9	111617172	111617172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggggaagccatccagcaTagtgcagccgccacacagta	11	5	11	14	2	0	0	0	0	0	0	2	1	1	1	4	2	4	3	4	2	3	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:111617172T>C	uc004bdi.3	-	0	1104	c.1039A>G	c.(1039-1041)Atg>Gtg	p.M347V		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	347						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CCATCCAGCATAGTGCAGCCG	0.682													C	111617172	T	C	111617172	3	2	94	1	0	0	0	0	1	0	0	0	201	1406	49	3	212	3	ACTL7B	9	111617172	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08		111617172	29596259	33	6144											
ZNF618	114991	broad.mit.edu	37	chr9	116798608	116798608	+	Frame_Shift_Del	DEL	C	C	-																															acctgcggcgcctgtgggatCcagttccagttctacaacaa																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:116798608delC	uc004bid.3	+	12	1296	c.1197delC	c.(1195-1197)atcfs	p.I399fs	ZNF618_uc004bic.3_Frame_Shift_Del_p.I306fs|ZNF618_uc011lxi.2_Frame_Shift_Del_p.I366fs|ZNF618_uc011lxj.2_Frame_Shift_Del_p.I367fs|ZNF618_uc010mvb.3_5'UTR	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CCTGTGGGATCCAGTTCCAGT	0.582													-	116798608	C	-	116798608	7	5	94	1	0	1	0	1	0	0	0	0	18143	845	30	0	964	0	ZNF618	9	116798608	Frame_Shift_Del	DEL	C	TCGA-06-5418-01A-01D-1486-08	5181436	116798608	24414823	34	6145											
SCAI	286205	broad.mit.edu	37	chr9	127781214	127781214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtattatcatcatttaatAccattacaggatccgcctaa	13	14	5	9	1	2	0	2	0	0	0	3	1	3	1	3	2	2	1	3	2	6	7			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:127781214A>G	uc004bpd.3	-	9	916	c.794T>C	c.(793-795)gTa>gCa	p.V265A	SCAI_uc004bpe.3_Missense_Mutation_p.V242A|SCAI_uc010mwu.3_Non-coding_Transcript	NM_173690	NP_775961	Q8N9R8	SCAI_HUMAN	Homo sapiens suppressor of cancer cell invasion (SCAI), transcript variant 1, mRNA.	242					negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						ATCATTTAATACCATTACAGG	0.393													G	127781214	A	G	127781214	3	3	94	1	0	0	0	0	1	0	0	0	13961	391	14	3	1135	3	SCAI	9	127781214	Missense_Mutation	SNP	A	TCGA-06-5418-01A-01D-1486-08	10982606	127781214	13432217	35	6146											
LAMC3	10319	broad.mit.edu	37	chr9	133943586	133943586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccgctgctaccctggcttCttcgacctccagcctgggag	5	9	11	16	2	1	0	0	0	1	0	3	2	2	1	5	2	4	3	5	2	1	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:133943586C>T	uc004caa.1	+	14	2813	c.2715C>T	c.(2713-2715)ttC>ttT	p.F905F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	905	Laminin EGF-like 9.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACCCTGGCTTCTTCGACCTCC	0.667													T	133943586	C	T	133943586	2	4	94	1	0	0	0	0	0	0	0	1	8675	912	32	2		2	LAMC3	9	133943586	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	6162372	133943586	7269845	36	6147											
COL5A1	1289	broad.mit.edu	37	chr9	137623922	137623922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatcacccccagattggAggacctcggggcgagaaagg	10	8	13	10	2	1	2	1	0	0	2	2	5	1	4	3	5	0	0	3	5	2	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr9:137623922A>G	uc004cfe.3	+	8	1720	c.1338A>G	c.(1336-1338)ggA>ggG	p.G446G		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	446	Interrupted collagenous region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCAGATTGGAGGACCTCGGG	0.532													G	137623922	A	G	137623922	2	3	94	1	0	0	0	0	0	0	0	1	3727	291	11	3		3	COL5A1	9	137623922	Silent	SNP	A	TCGA-06-5418-01A-01D-1486-08	3680336	137623922	3589509	37	6148											
ADARB2	105	broad.mit.edu	37	chr10	1284215	1284215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcagctccagctgcGtgtagaggaagtgcaggaac	10	7	15	9	1	1	1	1	0	0	1	2	3	2	3	1	3	6	5	1	3	3	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:1284215G>A	uc009xhq.3	-	4	1666	c.1340C>T	c.(1339-1341)aCg>aTg	p.T447M		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	447	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.T447A(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CTCCAGCTGCGTGTAGAGGAA	0.701													A	1284215	G	A	1284215	3	1	94	1	0	0	0	0	1	0	0	0	283	1145	40	1	903	1	ADARB2	10	1284215	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		1284215	134250532	38	6149											
PFKFB3	5209	broad.mit.edu	37	chr10	6265943	6265943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagatgccctacctgaaatgCcctcttcacaccgtcctgaa	10	9	7	15	1	2	3	1	2	1	1	3	4	3	3	5	0	3	0	5	0	3	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:6265943C>T	uc001ije.3	+	11	1620	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C	PFKFB3_uc001ijd.3_Silent_p.C392C|PFKFB3_uc009xii.3_Non-coding_Transcript|PFKFB3_uc010qaw.2_Silent_p.C426C|PFKFB3_uc001ijf.3_Silent_p.C412C|PFKFB3_uc001ijg.3_5'Flank|PFKFB3_uc009xij.3_5'Flank|PFKFB3_uc009xik.3_5'Flank|PFKFB3_uc009xil.3_5'Flank	NM_004566	NP_004557	Q16875	F263_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 (PFKFB3), transcript variant 1, mRNA.	412	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding	p.C412C(3)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						ACCTGAAATGCCCTCTTCACA	0.547													T	6265943	C	T	6265943	2	4	94	1	0	0	0	0	0	0	0	1	11839	747	26	2		2	PFKFB3	10	6265943	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	4981728	6265943	129268804	39	6150											
PTEN	5728	broad.mit.edu	37	chr10	89711993	89711993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgtttgaaactattcCaatgttcagtggcggaactt	11	14	10	6	1	1	2	1	2	0	0	2	4	2	3	1	2	2	2	1	2	4	5			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:89711993C>T	uc001kfb.3	+	5	1643	c.611C>T	c.(610-612)cCa>cTa	p.P204L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	204	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.P204T(2)|p.Y27fs*1(2)|p.P204fs*17(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.I203fs*39(1)|p.G165_*404del(1)|p.P204S(1)|p.I203fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GAAACTATTCCAATGTTCAGT	0.358		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89711993	C	T	89711993	3	4	94	1	0	0	0	0	1	0	0	0	12823	594	21	2	633	2	PTEN	10	89711993	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	83446050	89711993	45822754	40	6151											
DCLRE1A	9937	broad.mit.edu	37	chr10	115610208	115610208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaccgagttatcagttTggttctgatacgaagaccat	12	13	9	7	2	2	3	1	2	1	1	2	5	2	3	2	1	2	3	2	1	4	5			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr10:115610208T>C	uc001law.2	-	1	1574	c.656A>G	c.(655-657)cAa>cGa	p.Q219R		NM_014881	NP_055696	Q6PJP8	DCR1A_HUMAN	Homo sapiens DNA cross-link repair 1A (DCLRE1A), mRNA.	219					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GTTATCAGTTTGGTTCTGATA	0.433								Other identified genes with known or suspected DNA repair function					C	115610208	T	C	115610208	3	2	94	1	0	0	0	0	1	0	0	0	4328	1812	63	3	2498	3	DCLRE1A	10	115610208	Missense_Mutation	SNP	T	TCGA-06-5418-01A-01D-1486-08	25898215	115610208	19924539	41	6152											
METTL12	751071	broad.mit.edu	37	chr11	62434124	62434124	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtgctgggggtggacttTtctcctgtggctgtggccca	3	13	16	9	0	1	0	0	0	1	0	2	2	1	1	2	5	1	2	2	5	0	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr11:62434124T>C	uc001nug.1	+	2	583	c.324T>C	c.(322-324)ttT>ttC	p.F108F	C11orf48_uc001nuf.3_Intron|METTL12_uc001nuh.3_Missense_Mutation_p.F150S|METTL12_uc010rmc.1_Non-coding_Transcript	NM_001043229	NP_001036694	A8MUP2	MTL12_HUMAN	Homo sapiens methyltransferase like 12 (METTL12), nuclear gene encoding mitochondrial protein, mRNA.	108						mitochondrion	methyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	6						GGGTGGACTTTTCTCCTGTGG	0.592													C	62434124	T	C	62434124	2	2	94	1	0	0	0	0	0	0	0	1	9571	1838	64	3		3	METTL12	11	62434124	Silent	SNP	T	TCGA-06-5418-01A-01D-1486-08		62434124	72572392	42	6153											
AICDA	57379	broad.mit.edu	37	chr12	8758006	8758006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaggtgaaccaggtgaCgcggtagcagcggccagggt	9	4	18	10	3	0	2	0	2	0	0	0	3	0	3	3	6	3	2	3	6	2	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:8758006C>T	uc001qur.2	-	2	311	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	AICDA_uc001qup.1_Missense_Mutation_p.V73I|AICDA_uc001quq.1_Missense_Mutation_p.V73I|AICDA_uc009zgd.1_Intron	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	78					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding	p.R77R(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AACCAGGTGACGCGGTAGCAG	0.617													T	8758006	C	T	8758006	3	4	94	1	0	0	0	0	1	0	0	0	422	536	19	1	376	1	AICDA	12	8758006	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08		8758006	125093889	43	6154											
AGAP2	116986	broad.mit.edu	37	chr12	58120988	58120988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagctgctcgtacttggcGcgaatccacgactcgcgctc	7	9	11	14	6	0	0	0	0	0	0	4	2	1	0	1	1	3	5	1	1	3	3	rs145154021		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:58120988G>A	uc001spq.3	-	17	3105	c.3105C>T	c.(3103-3105)cgC>cgT	p.R1035R	AGAP2_uc001spp.3_Silent_p.R1034R|AGAP2_uc001spr.3_Silent_p.R679R|LOC100130776_uc001sps.4_Silent_p.A71A	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	1035	Arf-GAP.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CGTACTTGGCGCGAATCCACG	0.677											OREG0021951	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58120988	G	A	58120988	2	1	94	1	0	0	0	0	0	0	0	1	368	1074	38	1		1	AGAP2	12	58120988	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08	49362982	58120988	75730907	44	6155											
USP15	9958	broad.mit.edu	37	chr12	62785633	62785634	+	Frame_Shift_Ins	INS	-	-	A																															tggattgggatcctgatttgINSaaaaaaagatattttgatga																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr12:62785633_62785634insA	uc001src.2	+	16	2346_2347	c.2271_2272insA	c.(2269-2274)ttgaaafs	p.L757fs	USP15_uc001srb.2_Frame_Shift_Ins_p.L728fs	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	757					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ATCCTGATTTGAAAAAAAGATA	0.277													A	62785634	-	A	62785633	7	5	94	1	0	1	1	0	0	0	0	0	17148	1281	45	0	2246	0	USP15	12	62785633	Frame_Shift_Ins	INS	-	TCGA-06-5418-01A-01D-1486-08	4664645	62785633	71066262	45	6156											
ZFHX3	463	broad.mit.edu	37	chr16	72832031	72832031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctctttggctctgagcccGagtcttcttgtactgaccca	5	14	8	14	1	4	2	0	2	4	0	5	3	4	2	2	1	2	2	2	1	1	4	rs144091993	byFrequency	TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr16:72832031G>A	uc002fck.3	-	8	5223	c.4550C>T	c.(4549-4551)tCg>tTg	p.S1517L	ZFHX3_uc002fcl.3_Missense_Mutation_p.S603L	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1517					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.S1517S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGAGCCCGAGTCTTCTTG	0.483													A	72832031	G	A	72832031	3	1	94	1	0	0	0	0	1	0	0	0	17735	1059	37	1	6569	1	ZFHX3	16	72832031	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		72832031	17522722	46	6157											
GEMIN4	50628	broad.mit.edu	37	chr17	649261	649261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctctagagtctggatGaagatcctcagactgaggtc	9	12	11	9	0	3	5	1	2	2	3	5	6	4	6	2	2	1	0	2	2	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:649261G>T	uc002frs.1	-	1	2141	c.2022C>A	c.(2020-2022)ttC>ttA	p.F674L		NM_015721	NP_056536	P57678	GEMI4_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 4 (GEMIN4), mRNA.	674					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GAGTCTGGATGAAGATCCTCA	0.537													T	649261	G	T	649261	3	4	94	1	0	0	0	0	1	0	0	0	6386	1281	45	4	1158	4	GEMIN4	17	649261	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		649261	80545949	47	6158											
DNAH2	146754	broad.mit.edu	37	chr17	7702526	7702526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaacaacctgcacatcGtgctctgcctcagccccatg	9	8	8	16	1	2	1	1	0	1	1	3	1	2	1	4	0	7	3	4	0	2	0	rs147918283		TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:7702526G>A	uc002giu.1	+	54	8679	c.8665G>A	c.(8665-8667)Gtg>Atg	p.V2889M		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	2889	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.I2888I(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTGCACATCGTGCTCTGCCT	0.597													A	7702526	G	A	7702526	3	1	94	1	0	0	0	0	1	0	0	0	4641	1145	40	1	8883	1	DNAH2	17	7702526	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	7053265	7702526	73492684	48	6159											
WNK4	65266	broad.mit.edu	37	chr17	40945618	40945618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccctcgcaaggtatataaCgagttcattctgccttcgga	10	11	9	11	3	2	0	1	0	1	0	4	3	2	1	2	2	2	3	2	2	4	6			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr17:40945618C>T	uc002ibj.3	+	11	2234	c.2166C>T	c.(2164-2166)aaC>aaT	p.N722N	WNK4_uc010wgx.2_Silent_p.N386N|WNK4_uc002ibk.1_Silent_p.N494N|WNK4_uc010wgy.1_Silent_p.N66N	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	722					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AGGTATATAACGAGTTCATTC	0.532													T	40945618	C	T	40945618	2	4	94	1	0	0	0	0	0	0	0	1	17482	535	19	1		1	WNK4	17	40945618	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	33243092	40945618	40249592	49	6160											
KIF16B	55614	broad.mit.edu	37	chr20	16337074	16337074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtcatctggatttgcGcccaaagagcgagaaaccat	12	9	10	10	2	3	2	2	0	1	2	3	4	3	3	2	2	3	0	2	2	2	2			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:16337074G>A	uc002wpg.2	-	22	3681	c.3522C>T	c.(3520-3522)ggC>ggT	p.G1174G	KIF16B_uc002wpe.1_Silent_p.G556G|KIF16B_uc002wpf.1_Intron|KIF16B_uc010gch.2_Silent_p.G1123G	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1174					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGGATTTGCGCCCAAAGAGC	0.493													A	16337074	G	A	16337074	2	1	94	1	0	0	0	0	0	0	0	1	8336	1074	38	1		1	KIF16B	20	16337074	Silent	SNP	G	TCGA-06-5418-01A-01D-1486-08		16337074	46688446	50	6161											
PARD6B	84612	broad.mit.edu	37	chr20	49366651	49366651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcataacagtgagaccgGcaaaccagaggaataatgtt	16	8	9	8	1	2	2	2	1	0	2	2	4	2	3	2	2	2	2	2	2	4	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr20:49366651G>A	uc002xvo.3	+	2	988	c.745G>A	c.(745-747)Gca>Aca	p.A249T		NM_032521	NP_115910	Q9BYG5	PAR6B_HUMAN	Homo sapiens par-6 partitioning defective 6 homolog beta (C. elegans) (PARD6B), mRNA.	249	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						AGTGAGACCGGCAAACCAGAG	0.448													A	49366651	G	A	49366651	3	1	94	1	0	0	0	0	1	0	0	0	11522	1203	42	2	755	2	PARD6B	20	49366651	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	33029577	49366651	13658869	51	6162											
ITGB2	3689	broad.mit.edu	37	chr21	46311847	46311847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtccgtgaagcccagcGcccggatgacaaacgactgc	10	6	11	14	4	0	2	0	2	0	0	1	4	1	3	3	1	4	0	3	1	3	1			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:46311847G>A	uc002zgd.2	-	9	1333	c.1289C>T	c.(1288-1290)gCg>gTg	p.A430V	ITGB2_uc002zgf.3_Missense_Mutation_p.A430V|ITGB2_uc011afl.1_Missense_Mutation_p.A352V|ITGB2_uc010gpw.2_Missense_Mutation_p.A373V|ITGB2_uc002zgg.2_Missense_Mutation_p.A430V	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	430					apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.R429W(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GAAGCCCAGCGCCCGGATGAC	0.642													A	46311847	G	A	46311847	3	1	94	1	0	0	0	0	1	0	0	0	7952	1087	38	1	1044	1	ITGB2	21	46311847	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08		46311847	1818048	52	6163											
PCBP3	54039	broad.mit.edu	37	chr21	47355174	47355174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtatacccaggtctggaCgccagcccaccggccagcac	8	6	11	16	2	1	0	0	0	1	0	1	1	1	1	5	4	3	2	5	4	2	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chr21:47355174C>T	uc010gqb.3	+	13	1127	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	288					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577													T	47355174	C	T	47355174	2	4	94	1	0	0	0	0	0	0	0	1	11578	535	19	1		1	PCBP3	21	47355174	Silent	SNP	C	TCGA-06-5418-01A-01D-1486-08	1043327	47355174	774721	53	6164											
IL3RA	3563	broad.mit.edu	37	chrX	1464293	1464293	+	Frame_Shift_Del	DEL	T	T	-																															taacagaaatgtgaccgataTcgagtgtgttaaagacgccg																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:1464293delT	uc004cps.3	+	2	498	c.149delT	c.(148-150)atcfs	p.I50fs	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Intron	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	50						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GTGACCGATATCGAGTGTGTT	0.358													-	1464293	T	-	1464293	7	5	94	1	0	1	0	1	0	0	0	0	7753	1435	50	0	155	0	IL3RA	23	1464293	Frame_Shift_Del	DEL	T	TCGA-06-5418-01A-01D-1486-08		1464293	153806267	54	6165											
VDAC1	7416	broad.mit.edu	37	chrX	80185205	80185205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactgagtacggcctcaCgtttacagagaaatggaaca	14	8	11	8	2	1	2	1	1	0	1	1	5	1	4	1	3	3	2	1	3	4	3			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:80185205C>T								BRWD3 (119972 upstream) : HMGN5 (183995 downstream)																							TACGGCCTCACGTTTACAGAG	0.473													T	80185205	C	T	80185205	3	4	94	1	0	0	0	0	1	0	0	0	17248	551	19	1		1	VDAC1	23	80185205	Missense_Mutation	SNP	C	TCGA-06-5418-01A-01D-1486-08	78720912	80185205	75085355	55	6166											
PCDH19	57526	broad.mit.edu	37	chrX	99662549	99662551	+	In_Frame_Del	DEL	CAG	CAG	-																															acaagctcactgttgactgaCagcaggttgatgaccggcgg																										TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:99662549_99662551delCAG	uc010nmz.3	-	0	2721_2723	c.1045_1047delCTG	c.(1045-1047)ctgdel	p.L349del	PCDH19_uc004efw.4_In_Frame_Del_p.L349del|PCDH19_uc004efx.4_In_Frame_Del_p.L349del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	349					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGTTGACTGACAGCAGGTTGATG	0.616													-	99662551	CAG	-	99662549	7	5	94	1	0	1	0	1	0	0	0	0	11590	465	17	0	2423	0	PCDH19	23	99662549	In_Frame_Del	DEL	CAG	TCGA-06-5418-01A-01D-1486-08	19477344	99662549	55608011	56	6167											
TBC1D8B	54885	broad.mit.edu	37	chrX	106097468	106097468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatatacatagtatgcGctgtcgaaataggttgtatg	13	13	11	4	2	0	2	0	1	0	1	1	3	0	2	0	1	2	4	0	1	8	7			TCGA-06-5418-01A-01D-1486-08	TCGA-06-5418-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae28fd78-d254-46fa-aba1-1353931aa414	b22fa0ee-e512-4b27-84ce-10bc0af1dcab	g.chrX:106097468G>A	uc004emo.3	+	13	2459	c.2294G>A	c.(2293-2295)cGc>cAc	p.R765H	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	765						intracellular	calcium ion binding|Rab GTPase activator activity	p.R765H(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAGTATGCGCTGTCGAAAT	0.348													A	106097468	G	A	106097468	3	1	94	1	0	0	0	0	1	0	0	0	15726	1087	38	1	2414	1	TBC1D8B	23	106097468	Missense_Mutation	SNP	G	TCGA-06-5418-01A-01D-1486-08	6434919	106097468	49173092	57	6168											
ZMYM1	79830	broad.mit.edu	37	chr1	35580838	35580841	+	Frame_Shift_Del	DEL	TCAG	TCAG	-																															tgaaattgtggaaaagtttaTcagtcagatgaaagaaatat																										TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:35580838_35580841delTCAG	uc001bym.3	+	9	3553_3556	c.3407_3410delTCAG	c.(3406-3411)atcagtfs	p.I1136fs	ZMYM1_uc001byn.3_Frame_Shift_Del_p.I1136fs|ZMYM1_uc010ohu.2_Frame_Shift_Del_p.I1117fs|ZMYM1_uc001byo.3_Frame_Shift_Del_p.I776fs|ZMYM1_uc009vut.3_Frame_Shift_Del_p.I1061fs	NM_024772	NP_079048	Q5SVZ6	ZMYM1_HUMAN	Homo sapiens zinc finger, MYM-type 1 (ZMYM1), mRNA.	1136						nucleus	nucleic acid binding|protein dimerization activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(5)|lung(8)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAAAGTTTATCAGTCAGATGAAA	0.348													-	35580841	TCAG	-	35580838	7	5	95	1	0	1	0	1	0	0	0	0	17800	1435	50	0	3441	0	ZMYM1	1	35580838	Frame_Shift_Del	DEL	TCAG	TCGA-06-5856-01A-01D-1696-08		35580838	213669783	1	6169											
GNG5	2787	broad.mit.edu	37	chr1	84967630	84967630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagacagaactgtttCaagtctgcagctgcctggga	9	11	11	10	0	3	2	1	0	2	2	3	3	3	3	1	1	5	4	1	1	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:84967630C>A	uc001djw.4	-	2	459	c.105G>T	c.(103-105)ttG>ttT	p.L35F		NM_005274	NP_005265	P63218	GBG5_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma 5 (GNG5), mRNA.	35					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|signal transducer activity			lung(1)|skin(1)	2				all cancers(265;0.00634)|Epithelial(280;0.0175)|OV - Ovarian serous cystadenocarcinoma(397;0.159)		AGAACTGTTTCAAGTCTGCAG	0.433													A	84967630	C	A	84967630	3	1	95	1	0	0	0	0	1	0	0	0	6586	825	29	4	105	4	GNG5	1	84967630	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	49386792	84967630	164282991	2	6170											
SPAG17	200162	broad.mit.edu	37	chr1	118539227	118539227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattcttttacctggggAcatgttcaccatagatttgc	9	17	7	8	0	2	1	1	0	1	1	2	2	2	2	2	2	2	1	2	2	4	8			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:118539227A>T	uc001ehk.2	-	32	4984	c.4916T>A	c.(4915-4917)gTc>gAc	p.V1639D	SPAG17_uc021osr.1_Missense_Mutation_p.V149D	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1639						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTACCTGGGGACATGTTCACC	0.299													T	118539227	A	T	118539227	3	4	95	1	0	0	0	0	1	0	0	0	15075	275	10	5	1819	5	SPAG17	1	118539227	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	33571597	118539227	130711394	3	6171											
BCL9	607	broad.mit.edu	37	chr1	147092093	147092093	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggaacttgagtttgggaTggttcctagtgggatgaagg	8	12	17	4	1	0	2	0	2	0	0	2	5	1	5	1	5	1	2	1	5	3	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:147092093T>G	uc001epq.3	+	7	2872	c.2132T>G	c.(2131-2133)aTg>aGg	p.M711R	BCL9_uc010ozr.1_Missense_Mutation_p.M637R	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	711	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAGTTTGGGATGGTTCCTAGT	0.527			T	"IGH@, IGL@"	B-ALL								G	147092093	T	G	147092093	3	3	95	1	0	0	0	0	1	0	0	0	1386	1464	51	5	2150	5	BCL9	1	147092093	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	28552866	147092093	102158528	4	6172											
KPRP	448834	broad.mit.edu	37	chr1	152732521	152732521	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaatgcccagtccagaacTatgtaccctgtccagctcct	10	10	7	14	0	0	2	0	0	0	2	3	2	3	2	5	0	4	2	5	0	5	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:152732521T>G	uc001fal.1	+	1	515	c.457T>G	c.(457-459)Tat>Gat	p.Y153D	KPRP_uc021ozf.1_Missense_Mutation_p.Y153D	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	153	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCCAGAACTATGTACCCTG	0.512													G	152732521	T	G	152732521	3	3	95	1	0	0	0	0	1	0	0	0	8494	1522	53	5	459	5	KPRP	1	152732521	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	5640428	152732521	96518100	5	6173											
NPR1	4881	broad.mit.edu	37	chr1	153657481	153657481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggcctcggagctgtggcGggtgcgctgggaggacgttg	4	8	20	9	4	0	0	0	0	0	0	1	3	0	3	1	6	2	3	1	6	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:153657481G>A	uc001fcs.4	+	7	1947	c.1526G>A	c.(1525-1527)cGg>cAg	p.R509Q	NPR1_uc010pdz.2_Missense_Mutation_p.R255Q|NPR1_uc010pea.2_Missense_Mutation_p.R13Q	NM_000906	NP_000897	P16066	ANPRA_HUMAN	Homo sapiens natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A) (NPR1), mRNA.	509					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GAGCTGTGGCGGGTGCGCTGG	0.647													A	153657481	G	A	153657481	3	1	95	1	0	0	0	0	1	0	0	0	10670	1116	39	1	1556	1	NPR1	1	153657481	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	924960	153657481	95593140	6	6174											
C1orf198	84886	broad.mit.edu	37	chr1	230979428	230979428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actcggcctcaggcccctccCctcgggaccgctcagcattg	5	7	10	19	3	2	0	2	0	0	0	5	1	3	1	6	3	1	2	6	3	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:230979428C>T	uc001hub.3	-	2	643	c.599G>A	c.(598-600)gGg>gAg	p.G200E	C1orf198_uc009xfh.2_Missense_Mutation_p.G70E|C1orf198_uc001huc.2_5'UTR|C1orf198_uc001hud.2_Missense_Mutation_p.G162E	NM_032800	NP_001129967	Q9H425	CA198_HUMAN	Homo sapiens chromosome 1 open reading frame 198 (C1orf198), transcript variant 1, mRNA.	200										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				AGGCCCCTCCCCTCGGGACCG	0.632													T	230979428	C	T	230979428	3	4	95	1	0	0	0	0	1	0	0	0	2046	623	22	2	392	2	C1orf198	1	230979428	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	77321947	230979428	18271193	7	6175											
OR2M3	127062	broad.mit.edu	37	chr1	248366725	248366725	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttttggctgttatggCttatgaccgctacactgcca	6	16	8	11	1	1	1	0	1	1	0	1	1	1	1	2	2	2	4	2	2	3	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr1:248366725C>A	uc010pzg.2	+	0	356	c.356C>A	c.(355-357)gCt>gAt	p.A119D		NM_001004689	NP_001004689	Q8NG83	OR2M3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 3 (OR2M3), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCTGTTATGGCTTATGACCGC	0.463													A	248366725	C	A	248366725	3	1	95	1	0	0	0	0	1	0	0	0	11087	797	28	4	358	4	OR2M3	1	248366725	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	17387297	248366725	883896	8	6176											
C2orf16	84226	broad.mit.edu	37	chr2	27799823	27799823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccctagaccagggcatcaGtttgcaaaatatgcagagat	14	9	9	9	0	1	2	1	0	0	2	2	3	2	2	2	1	2	4	2	1	4	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:27799823G>A	uc002rkz.4	+	0	435	c.384G>A	c.(382-384)caG>caA	p.Q128Q		NM_032266	NP_115642	Q68DN1	CB016_HUMAN	Homo sapiens chromosome 2 open reading frame 16 (C2orf16), mRNA.	128										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGGGCATCAGTTTGCAAAAT	0.403													A	27799823	G	A	27799823	2	1	95	1	0	0	0	0	0	0	0	1	2178	1020	36	2		2	C2orf16	2	27799823	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		27799823	215399550	9	6177											
MAP4K3	8491	broad.mit.edu	37	chr2	39560698	39560698	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacatgaccattatccgtTaatagaatgttagctccctt	11	15	5	10	1	1	2	1	1	0	1	3	2	3	2	3	0	1	3	3	0	5	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:39560698T>G	uc002rro.3	-	6	523	c.432A>C	c.(430-432)ttA>ttC	p.L144F	MAP4K3_uc002rrp.3_Missense_Mutation_p.L144F	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	144	Protein kinase.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CATTATCCGTTAATAGAATGT	0.274													G	39560698	T	G	39560698	3	3	95	1	0	0	0	0	1	0	0	0	9336	1751	61	5	2364	5	MAP4K3	2	39560698	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	11760875	39560698	203638675	10	6178											
BCL11A	53335	broad.mit.edu	37	chr2	60688972	60688972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattgcagaggagggagggGgggcgtcgccaggaagggcg	8	3	24	6	3	0	1	0	0	0	1	1	5	0	5	1	8	1	1	1	8	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:60688972G>C	uc002sae.1	-	3	1303	c.1075C>G	c.(1075-1077)Ccc>Gcc	p.P359A	BCL11A_uc002sab.3_Missense_Mutation_p.P359A|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.P325A|BCL11A_uc002sad.1_Missense_Mutation_p.P207A|BCL11A_uc002saf.1_Missense_Mutation_p.P325A	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	359	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			GGAGGGAGGGGGGGCGTCGCC	0.632			T	IGH@	B-CLL								C	60688972	G	C	60688972	3	2	95	1	0	0	0	0	1	0	0	0	1368	1232	43	4	1542	4	BCL11A	2	60688972	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	21128274	60688972	182510401	11	6179											
GPR45	11250	broad.mit.edu	37	chr2	105859160	105859160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctccctctgctggctgcCccactccgtctacagcctcc	3	11	6	21	1	3	0	0	0	3	0	6	0	5	0	6	1	4	2	6	1	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr2:105859160C>T	uc002tco.1	+	0	961	c.845C>T	c.(844-846)cCc>cTc	p.P282L		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	282						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TGCTGGCTGCCCCACTCCGTC	0.592													T	105859160	C	T	105859160	3	4	95	1	0	0	0	0	1	0	0	0	6750	623	22	2	847	2	GPR45	2	105859160	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	45170188	105859160	137340213	12	6180											
PRRT3	285368	broad.mit.edu	37	chr3	9989638	9989638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagggggcctggactggggGtgctgggggatggctttggg	3	8	24	6	1	0	0	0	0	0	0	0	3	0	2	1	9	1	2	1	9	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr3:9989638G>A	uc003bul.2	-	3	1349	c.1219C>T	c.(1219-1221)Ccc>Tcc	p.P407S	CIDEC_uc003bto.3_Intron|PRRT3_uc003buk.2_Non-coding_Transcript	NM_207351	NP_997234	Q5FWE3	PRRT3_HUMAN	Homo sapiens proline-rich transmembrane protein 3 (PRRT3), mRNA.	407	Pro-rich.					integral to membrane				NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(1)|skin(1)|stomach(2)	13						TGGACTGGGGGTGCTGGGGGA	0.607													A	9989638	G	A	9989638	3	1	95	1	0	0	0	0	1	0	0	0	12696	1261	44	2	1730	2	PRRT3	3	9989638	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		9989638	188032792	13	6181											
MUC7	4589	broad.mit.edu	37	chr4	71346565	71346565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacgtcacagaaggcatcAtcaccaatcacccaaatctc	15	7	4	15	1	5	1	4	0	1	1	6	1	5	1	2	1	1	1	2	1	4	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:71346565A>G	uc011cat.2	+	3	392	c.104A>G	c.(103-105)cAt>cGt	p.H35R	MUC7_uc011cau.2_Missense_Mutation_p.H35R|MUC7_uc003hfj.3_Missense_Mutation_p.H35R	NM_001145006	NP_689504	Q8TAX7	MUC7_HUMAN	Homo sapiens mucin 7, secreted (MUC7), transcript variant 1, mRNA.	35						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AGAAGGCATCATCACCAATCA	0.383													G	71346565	A	G	71346565	3	3	95	1	0	0	0	0	1	0	0	0	10057	217	8	3	110	3	MUC7	4	71346565	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		71346565	119807711	14	6182											
RASGEF1B	153020	broad.mit.edu	37	chr4	82380500	82380500	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctacatctggatagtaatCcacattaggtactaagtgct	13	12	7	9	0	1	0	0	0	1	0	2	1	2	1	2	2	3	3	2	2	6	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:82380500C>A	uc003hmi.1	-	1	307	c.163G>T	c.(163-165)Gat>Tat	p.D55Y	RASGEF1B_uc003hmj.1_Missense_Mutation_p.D55Y|RASGEF1B_uc010ijq.1_Missense_Mutation_p.D55Y|RASGEF1B_uc003hmk.3_Missense_Mutation_p.D55Y	NM_152545	NP_689758	Q0VAM2	RGF1B_HUMAN	Homo sapiens RasGEF domain family, member 1B (RASGEF1B), mRNA.	55	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GGATAGTAATCCACATTAGGT	0.443													A	82380500	C	A	82380500	3	1	95	1	0	0	0	0	1	0	0	0	13158	855	30	4	1310	4	RASGEF1B	4	82380500	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	11033935	82380500	108773776	15	6183											
FNIP2	57600	broad.mit.edu	37	chr4	159790265	159790265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcacagcctcccacggtgCaggaggaacgggagggagga	10	2	19	10	2	0	0	0	0	0	0	1	5	1	5	2	7	3	2	2	7	1	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:159790265C>G	uc003iqe.4	+	12	2660	c.2477C>G	c.(2476-2478)gCa>gGa	p.A826G		NM_020840	NP_065891	Q9P278	FNIP2_HUMAN	Homo sapiens folliculin interacting protein 2 (FNIP2), mRNA.	826	Interaction with PRKAA1.				DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TCCCACGGTGCAGGAGGAACG	0.607													G	159790265	C	G	159790265	3	3	95	1	0	0	0	0	1	0	0	0	6025	710	25	4	2527	4	FNIP2	4	159790265	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	77409765	159790265	31364011	16	6184											
NEK1	4750	broad.mit.edu	37	chr4	170345795	170345795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtaaatgcgagtgagatCgaaatgcaaaggattcttct	13	11	12	5	2	2	1	0	1	2	1	3	5	2	2	0	2	2	2	0	2	4	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr4:170345795C>A	uc003isd.2	-	30	3709	c.3131G>T	c.(3130-3132)cGa>cTa	p.R1044L	NEK1_uc003ise.2_Missense_Mutation_p.R1000L|NEK1_uc003isb.2_Missense_Mutation_p.R1016L|NEK1_uc003isc.2_Missense_Mutation_p.R972L|NEK1_uc003isf.2_Missense_Mutation_p.R947L	NM_001199397	NP_001186326	Q96PY6	NEK1_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 1 (NEK1), transcript variant 1, mRNA.	1016					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		CGAGTGAGATCGAAATGCAAA	0.398													A	170345795	C	A	170345795	3	1	95	1	0	0	0	0	1	0	0	0	10397	884	31	4	753	4	NEK1	4	170345795	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	10555530	170345795	20808481	17	6185											
SLC9A3	6550	broad.mit.edu	37	chr5	481703	481703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgagataattgtgcccGatctgtccggatatgtcctc	7	14	9	11	2	2	1	0	1	2	1	6	4	4	2	3	1	1	0	3	1	2	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:481703G>A	uc003jbe.2	-	8	1606	c.1494C>T	c.(1492-1494)atC>atT	p.I498I	SLC9A3_uc011clx.1_Silent_p.I489I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	498						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			AATTGTGCCCGATCTGTCCGG	0.582													A	481703	G	A	481703	2	1	95	1	0	0	0	0	0	0	0	1	14807	1048	37	1		1	SLC9A3	5	481703	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		481703	180433557	18	6186											
NSUN2	54888	broad.mit.edu	37	chr5	6600309	6600309	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcctttccccgccatccGcataagacgatgggacactg	9	7	11	14	3	0	1	0	0	0	1	2	4	2	2	5	2	0	1	5	2	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:6600309G>A	uc003jdu.3	-	18	2415	c.2034C>T	c.(2032-2034)tgC>tgT	p.C678C	NSUN2_uc003jdt.3_Silent_p.C442C|NSUN2_uc011cmk.2_Silent_p.C643C|NSUN2_uc003jdv.3_Silent_p.C442C	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	678						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						CCCGCCATCCGCATAAGACGA	0.458													A	6600309	G	A	6600309	2	1	95	1	0	0	0	0	0	0	0	1	10754	1079	38	1		1	NSUN2	5	6600309	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	6118606	6600309	174314951	19	6187											
MYO10	4651	broad.mit.edu	37	chr5	16668401	16668401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacctcactggtttcaaaGagcagctccctctcatcgac	9	11	6	15	1	3	1	3	0	1	1	6	2	4	1	2	1	3	3	2	1	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr5:16668401G>A	uc003jft.4	-	39	6528	c.6060C>T	c.(6058-6060)ctC>ctT	p.L2020L	MYO10_uc011cnb.2_Silent_p.L649L|MYO10_uc011cnc.2_Silent_p.L899L|MYO10_uc011cnd.2_Silent_p.L1377L|MYO10_uc011cne.2_Silent_p.L1377L|MYO10_uc010itx.3_Silent_p.L1642L	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	2020	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TGGTTTCAAAGAGCAGCTCCC	0.463													A	16668401	G	A	16668401	2	1	95	1	0	0	0	0	0	0	0	1	10138	929	33	2		2	MYO10	5	16668401	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	10068092	16668401	164246859	20	6188											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726579	25726579	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaaggatttctgctgtGagatactctaacactgccgc	10	11	9	11	1	3	1	1	1	2	1	3	3	3	2	1	1	5	2	1	1	3	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:25726579G>T	uc003nfc.3	-	0	212	c.177C>A	c.(175-177)ctC>ctA	p.L59L	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	59					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TTTCTGCTGTGAGATACTCTA	0.537													T	25726579	G	T	25726579	2	4	95	1	0	0	0	0	0	0	0	1	7183	1277	45	4		4	HIST1H2AA	6	25726579	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08		25726579	145388488	21	6189											
PSMB8	5696	broad.mit.edu	37	chr6	32811722	32811722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttcccgcaaccgggagagCcgattccggccgctgccctc	5	6	12	18	5	0	1	0	0	0	1	3	3	2	1	6	2	3	3	6	2	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:32811722C>T	uc003oce.3	-	0	95	c.52G>A	c.(52-54)Gct>Act	p.A18T	PSMB8_uc003ocf.3_Intron|PSMB8_uc011dqh.2_Missense_Mutation_p.A18T|LOC100507463_uc021ywa.1_5'Flank|LOC100507463_uc021ywb.1_5'Flank|LOC100507463_uc021ywc.1_5'Flank|LOC100507463_uc021ywd.1_5'Flank	NM_148919	NP_683720	P28062	PSB8_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional peptidase 7) (PSMB8), transcript variant 2, mRNA.	18					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						ACCGGGAGAGCCGATTCCGGC	0.637													T	32811722	C	T	32811722	3	4	95	1	0	0	0	0	1	0	0	0	12768	739	26	2	802	2	PSMB8	6	32811722	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	7085143	32811722	138303345	22	6190											
SCUBE3	222663	broad.mit.edu	37	chr6	35210070	35210072	+	In_Frame_Del	DEL	GAG	GAG	-																															tgcgaaacaaaggcaaaacaGaggaggctggcagaatcaca																										TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr6:35210070_35210072delGAG	uc003okf.1	+	12	1513_1515	c.1507_1509delGAG	c.(1507-1509)gagdel	p.E504del	SCUBE3_uc003okg.1_In_Frame_Del_p.E503del|SCUBE3_uc003okh.1_In_Frame_Del_p.E391del	NM_152753	NP_689966	Q8IX30	SCUB3_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 3 (SCUBE3), mRNA.	504					protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						AGGCAAAACAGAGGAGGCTGGCA	0.547													-	35210072	GAG	-	35210070	7	5	95	1	0	1	0	1	0	0	0	0	14039	943	33	0	1557	0	SCUBE3	6	35210070	In_Frame_Del	DEL	GAG	TCGA-06-5856-01A-01D-1696-08	2398348	35210070	135904997	23	6191											
CPVL	54504	broad.mit.edu	37	chr7	29152433	29152433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggccgaccaaactcaattCtcttcctagtgggggaaaaa	13	8	10	10	1	2	0	1	0	1	0	4	2	3	1	3	3	1	0	3	3	5	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:29152433C>T	uc003szv.3	-	2	294	c.175G>A	c.(175-177)Gaa>Aaa	p.E59K	CPVL_uc003szw.3_Missense_Mutation_p.E59K|CPVL_uc003szx.3_Missense_Mutation_p.E59K	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	59					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						AAACTCAATTCTCTTCCTAGT	0.418													T	29152433	C	T	29152433	3	4	95	1	0	0	0	0	1	0	0	0	3866	922	32	2	1299	2	CPVL	7	29152433	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		29152433	129986230	24	6192											
MYO1G	64005	broad.mit.edu	37	chr7	45016656	45016656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgatgtaggtgtagatgCggcccttctcgaacctggac	8	9	12	12	3	1	1	0	0	1	1	2	4	1	2	3	3	2	2	3	3	3	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:45016656C>T	uc003tmh.2	-	1	254	c.110G>A	c.(109-111)cGc>cAc	p.R37H	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	37	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						GGTGTAGATGCGGCCCTTCTC	0.637													T	45016656	C	T	45016656	3	4	95	1	0	0	0	0	1	0	0	0	10150	768	27	1	3030	1	MYO1G	7	45016656	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	15864223	45016656	114122007	25	6193											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	95	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	10205166	55221822	103916841	26	6194											
POM121	9883	broad.mit.edu	37	chr7	72413475	72413475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgaggggcagccaccgggGgccgccaagccggcccttgc	5	3	17	16	3	0	1	0	1	0	0	0	1	0	1	6	5	3	2	6	5	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:72413475G>A	uc003twk.2	+	10	2943	c.2943G>A	c.(2941-2943)ggG>ggA	p.G981G	POM121_uc003twj.3_Silent_p.G716G|POM121_uc010lam.1_Silent_p.G716G	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	981	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				AGCCACCGGGGGCCGCCAAGC	0.652													A	72413475	G	A	72413475	2	1	95	1	0	0	0	0	0	0	0	1	12316	1219	43	2		2	POM121	7	72413475	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	17191653	72413475	86725188	27	6195											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138719356	138719356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttttcattgagaccaaaaAgtccatggcttttcaggacc	11	12	9	9	0	2	1	2	1	0	1	3	3	3	2	3	3	0	2	3	3	2	5			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr7:138719356A>G	uc003vum.1	-	1	446	c.434T>C	c.(433-435)cTt>cCt	p.L145P		NM_080660	NP_542391	Q96H79	ZCCHL_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1-like (ZC3HAV1L), mRNA.	145										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GAGACCAAAAAGTCCATGGCT	0.483													G	138719356	A	G	138719356	3	3	95	1	0	0	0	0	1	0	0	0	17677	72	3	3	484	3	ZC3HAV1L	7	138719356	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	66305881	138719356	20419307	28	6196											
RP1L1	94137	broad.mit.edu	37	chr8	10467546	10467546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcaatttcctctaactgCgcctcttcttcttgctgtcc	4	18	4	15	1	6	0	1	0	5	0	8	0	8	0	3	0	3	1	3	0	2	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr8:10467546C>T	uc003wtc.3	-	3	4291	c.4062G>A	c.(4060-4062)gcG>gcA	p.A1354A		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1354					intracellular signal transduction			p.A1354A(2)		breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		cctctaactgcgcctcttctt	0.478													T	10467546	C	T	10467546	2	4	95	1	0	0	0	0	0	0	0	1	13624	755	27	1		1	RP1L1	8	10467546	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		10467546	135896476	29	6197											
CDC37L1	55664	broad.mit.edu	37	chr9	4679887	4679887	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcccgcagctgccaggCggcggcgcccaggtgagaag	6	3	17	15	5	0	1	0	1	0	1	0	2	0	1	3	4	3	3	3	4	1	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:4679887C>G	uc003zio.3	+	0	322	c.120C>G	c.(118-120)ggC>ggG	p.G40G		NM_017913	NP_060383	Q7L3B6	CD37L_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae)-like 1 (CDC37L1), mRNA.	40	Self-association.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		AGCTGCCAGGCGGCGGCGCCC	0.682											OREG0019085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	4679887	C	G	4679887	2	3	95	1	0	0	0	0	0	0	0	1	3099	755	27	4		4	CDC37L1	9	4679887	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		4679887	136533544	30	6198											
KIAA2026	158358	broad.mit.edu	37	chr9	5922764	5922764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacagagctattttgaaGatctattggcaaccactggc	11	13	8	9	0	1	3	0	1	1	2	1	3	1	3	1	2	3	2	1	2	5	7			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:5922764G>T	uc003zjq.4	-	7	3448	c.3232C>A	c.(3232-3234)Ctt>Att	p.L1078I	KIAA2026_uc010mht.3_Missense_Mutation_p.L253I	NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	1078										breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		CTATTTTGAAGATCTATTGGC	0.418													T	5922764	G	T	5922764	3	4	95	1	0	0	0	0	1	0	0	0	8328	942	33	4	3083	4	KIAA2026	9	5922764	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	1242877	5922764	135290667	31	6199											
C9orf131	138724	broad.mit.edu	37	chr9	35044886	35044886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacccaagggagtaacgTgcccaggggttaaggcagag	11	6	15	9	1	1	1	0	0	1	1	1	2	1	2	2	4	3	3	2	4	4	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:35044886T>C	uc003zvw.3	+	1	2289	c.2260T>C	c.(2260-2262)Tgc>Cgc	p.C754R	C9orf131_uc003zvu.3_Missense_Mutation_p.C706R|C9orf131_uc003zvv.3_Missense_Mutation_p.C681R|C9orf131_uc003zvx.3_Missense_Mutation_p.C719R	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	754										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GGGAGTAACGTGCCCAGGGGT	0.587													C	35044886	T	C	35044886	3	2	95	1	0	0	0	0	1	0	0	0	2483	1696	59	3	2282	3	C9orf131	9	35044886	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	29122122	35044886	106168545	32	6200											
FBP1	2203	broad.mit.edu	37	chr9	97380079	97380079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccaaaaatggttccaaCggacacaaggcaatcgatgt	15	7	10	9	2	0	0	0	0	0	0	2	3	1	1	2	3	2	2	2	3	5	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr9:97380079C>T	uc004auw.4	-	2	728	c.397G>A	c.(397-399)Gtt>Att	p.V133I	FBP1_uc010mrl.3_Missense_Mutation_p.V133I	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	133					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	ATGGTTCCAACGGACACAAGG	0.388													T	97380079	C	T	97380079	3	4	95	1	0	0	0	0	1	0	0	0	5754	536	19	1	639	1	FBP1	9	97380079	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	62335193	97380079	43833352	33	6201											
CDHR1	92211	broad.mit.edu	37	chr10	85962739	85962739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgattcttctgcaggatGgcggtgggaggcttcatggg	5	11	16	9	2	3	0	1	0	2	0	4	3	4	2	1	6	1	2	1	6	0	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr10:85962739G>T	uc001kcv.3	+	7	748	c.643G>T	c.(643-645)Ggc>Tgc	p.G215C	CDHR1_uc001kcw.3_Missense_Mutation_p.G215C|CDHR1_uc009xst.3_5'UTR	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	215	Cadherin 2.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						TCTGCAGGATGGCGGTGGGAG	0.557													T	85962739	G	T	85962739	3	4	95	1	0	0	0	0	1	0	0	0	3148	1348	47	4	673	4	CDHR1	10	85962739	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		85962739	49572008	34	6202											
AHNAK	79026	broad.mit.edu	37	chr11	62286891	62286891	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcagctctgcctcaggaaCagtgacatccagtgaaggtg	10	9	12	10	0	3	2	2	2	1	0	4	3	4	3	2	2	3	2	2	2	2	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:62286891C>G	uc001ntl.3	-	4	15298	c.14998G>C	c.(14998-15000)Gtt>Ctt	p.V5000L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5000					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTCAGGAACAGTGACATCC	0.433													G	62286891	C	G	62286891	3	3	95	1	0	0	0	0	1	0	0	0	414	478	17	4	2794	4	AHNAK	11	62286891	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		62286891	72719625	35	6203											
MTMR2	8898	broad.mit.edu	37	chr11	95580911	95580911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaatgagtagattccaaGttagacaaccagtgggtttc	13	10	10	8	0	0	3	0	1	0	2	2	3	1	3	3	1	2	3	3	1	5	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:95580911G>A	uc001pfu.3	-	9	1399	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	MTMR2_uc001pfv.3_Silent_p.N310N|MTMR2_uc001pfs.3_Silent_p.N310N|MTMR2_uc001pft.3_Silent_p.N310N|MTMR2_uc010ruj.1_Silent_p.N365N	NM_016156	NP_958438	Q13614	MTMR2_HUMAN	Homo sapiens myotubularin related protein 2 (MTMR2), transcript variant 1, mRNA.	382	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TAGATTCCAAGTTAGACAACC	0.368													A	95580911	G	A	95580911	2	1	95	1	0	0	0	0	0	0	0	1	10020	1020	36	2		2	MTMR2	11	95580911	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	33294020	95580911	39425605	36	6204											
SCN3B	55800	broad.mit.edu	37	chr11	123513193	123513193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatcagccgcgtcgtctTcacaaagggccgatgcgcct	7	7	14	13	5	3	0	2	0	1	0	4	2	3	1	3	3	2	0	3	3	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr11:123513193T>C	uc001pza.1	-	3	813	c.406A>G	c.(406-408)Aag>Gag	p.K136E	SCN3B_uc001pzb.1_Missense_Mutation_p.K136E	NM_001040151	NP_060870	Q9NY72	SCN3B_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, beta (SCN3B), transcript variant 2, mRNA.	136	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		CGCGTCGTCTTCACAAAGGGC	0.592													C	123513193	T	C	123513193	3	2	95	1	0	0	0	0	1	0	0	0	14012	1792	62	3	253	3	SCN3B	11	123513193	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	27932282	123513193	11493323	37	6205											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788105	3788105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaacaccttttgggctccaAgtctgtccatcagcatccgg	8	10	8	15	1	2	0	1	0	1	0	5	0	5	0	5	2	2	2	5	2	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:3788105A>G	uc010sen.1	-	5	1072	c.500T>C	c.(499-501)cTt>cCt	p.L167P	EFCAB4B_uc001qmj.2_Missense_Mutation_p.L167P	NM_001144958	NP_001138430	Q9BSW2	EFC4B_HUMAN	Homo sapiens EF-hand calcium binding domain 4B (EFCAB4B), transcript variant 1, mRNA.	167					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGGCTCCAAGTCTGTCCAT	0.517													G	3788105	A	G	3788105	3	3	95	1	0	0	0	0	1	0	0	0	4976	72	3	3	1947	3	EFCAB4B	12	3788105	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		3788105	130063790	38	6206											
NDUFA9	4704	broad.mit.edu	37	chr12	4771765	4771765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtaaagccgtcggacatcTttggaagagaggatagattc	12	10	12	7	3	1	2	0	0	1	2	4	6	1	5	1	3	1	1	1	3	4	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:4771765T>C	uc001qnc.3	+	5	648	c.619T>C	c.(619-621)Ttt>Ctt	p.F207L	NDUFA9_uc009zei.2_Missense_Mutation_p.F207L|NDUFA9_uc010ses.2_5'UTR	NM_005002	NP_004993	Q16795	NDUA9_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa (NDUFA9), nuclear gene encoding mitochondrial protein, mRNA.	207					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	GTCGGACATCTTTGGAAGAGA	0.393													C	4771765	T	C	4771765	3	2	95	1	0	0	0	0	1	0	0	0	10348	1609	56	3	641	3	NDUFA9	12	4771765	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	983660	4771765	129080130	39	6207											
PLEKHA5	54477	broad.mit.edu	37	chr12	19285373	19285373	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacttttgaaggtgcaagAtactatataaagtgagtttt	14	16	8	3	0	0	3	0	2	0	1	0	3	0	3	0	1	3	2	0	1	9	10			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:19285373A>T	uc001reb.3	+	2	324	c.216A>T	c.(214-216)agA>agT	p.R72S	PLEKHA5_uc010sie.2_Missense_Mutation_p.R72S|PLEKHA5_uc001rea.3_Missense_Mutation_p.R72S|PLEKHA5_uc009zin.3_5'UTR|PLEKHA5_uc001rdz.4_Missense_Mutation_p.R72S	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	72	WW 2.						1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					AAGGTGCAAGATACTATATAA	0.313													T	19285373	A	T	19285373	3	4	95	1	0	0	0	0	1	0	0	0	12136	330	12	5	226	5	PLEKHA5	12	19285373	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	14513608	19285373	114566522	40	6208											
H3F3C	440093	broad.mit.edu	37	chr12	31944878	31944878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtgttgaaatcctgcgCgatctccctcaccaacctct	8	11	7	15	2	4	1	2	1	2	0	6	2	5	1	4	0	2	1	4	0	2	1	rs141415515		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:31944878C>T	uc001rkr.3	-	0	298	c.223G>A	c.(223-225)Gcg>Acg	p.A75T		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	75					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						AAATCCTGCGCGATCTCCCTC	0.587										HNSCC(67;0.2)			T	31944878	C	T	31944878	3	4	95	1	0	0	0	0	1	0	0	0	6990	768	27	1	188	1	H3F3C	12	31944878	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	12659505	31944878	101907017	41	6209											
OR6C75	390323	broad.mit.edu	37	chr12	55759176	55759176	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaccatttcttataatggGtgtgtggctcagctattttt	9	17	9	6	0	2	1	1	0	1	1	2	1	2	1	1	2	2	2	1	2	4	6	rs113253007		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:55759176G>T	uc010spk.2	+	0	282	c.282G>T	c.(280-282)ggG>ggT	p.G94G		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G94W(1)		endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						CTTATAATGGGTGTGTGGCTC	0.448													T	55759176	G	T	55759176	2	4	95	1	0	0	0	0	0	0	0	1	11275	1248	44	4		4	OR6C75	12	55759176	Silent	SNP	G	TCGA-06-5856-01A-01D-1696-08	23814298	55759176	78092719	42	6210											
SMARCC2	6601	broad.mit.edu	37	chr12	56578637	56578637	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaccatttacctggtgtctCttgataatgtcctttaattt	9	18	6	8	0	1	2	0	1	1	1	3	2	2	2	3	1	1	0	3	1	3	7			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:56578637C>G	uc001skb.3	-	4	589	c.483G>C	c.(481-483)aaG>aaC	p.K161N	SMARCC2_uc001skd.3_Missense_Mutation_p.K161N|SMARCC2_uc001ska.3_Missense_Mutation_p.K161N|SMARCC2_uc001skc.3_Missense_Mutation_p.K161N|SMARCC2_uc010sqf.2_Missense_Mutation_p.K50N	NM_003075	NP_003066	Q8TAQ2	SMRC2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2 (SMARCC2), transcript variant 1, mRNA.	161					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			CCTGGTGTCTCTTGATAATGT	0.418													G	56578637	C	G	56578637	3	3	95	1	0	0	0	0	1	0	0	0	14870	912	32	4	3354	4	SMARCC2	12	56578637	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	819461	56578637	77273258	43	6211											
MARCH9	92979	broad.mit.edu	37	chr12	58152353	58152353	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctattgctcaggcctcatCatccatgaaggctcctctgt	7	13	7	14	0	4	1	3	1	1	0	7	1	7	1	4	2	1	2	4	2	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:58152353C>A	uc001spx.2	+	3	1145	c.714C>A	c.(712-714)atC>atA	p.I238I	MARCH9_uc001spy.3_Silent_p.I125I	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	238						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CAGGCCTCATCATCCATGAAG	0.478													A	58152353	C	A	58152353	2	1	95	1	0	0	0	0	0	0	0	1	9383	816	29	4		4	MARCH9	12	58152353	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	1573716	58152353	75699542	44	6212											
IFNG	3458	broad.mit.edu	37	chr12	68552011	68552011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctaagaaaagagttccaTtatccgctacatctgaatga	14	11	7	9	1	1	4	0	2	1	2	3	4	3	4	3	0	2	2	3	0	6	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:68552011T>C	uc001stw.1	-	1	269	c.143A>G	c.(142-144)aAt>aGt	p.N48S		NM_000619	NP_000610	P01579	IFNG_HUMAN	Homo sapiens interferon, gamma (IFNG), mRNA.	48					cell cycle arrest|interferon-gamma-mediated signaling pathway|negative regulation of interleukin-17 production|negative regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of metanephric nephron tubule epithelial cell differentiation|negative regulation of smooth muscle cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of fructose 1,6-bisphosphate 1-phosphatase activity|positive regulation of fructose 1,6-bisphosphate metabolic process|positive regulation of interleukin-12 production|positive regulation of interleukin-23 production|positive regulation of killing of cells of other organism|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mesenchymal cell proliferation|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation of STAT protein|positive regulation of smooth muscle cell apoptosis|positive regulation of tumor necrosis factor (ligand) superfamily member 11 production|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|regulation of insulin secretion|regulation of interferon-gamma-mediated signaling pathway|response to virus	extracellular space	cytokine activity|interferon-gamma receptor binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000829)	Glucosamine(DB01296)|Interferon gamma-1b(DB00033)|Simvastatin(DB00641)	AAGAGTTCCATTATCCGCTAC	0.308													C	68552011	T	C	68552011	3	2	95	1	0	0	0	0	1	0	0	0	7606	1493	52	3	369	3	IFNG	12	68552011	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08	10399658	68552011	65299884	45	6213											
CNOT2	4848	broad.mit.edu	37	chr12	70732228	70732228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttttcatgctagaatttGaatacatctggcaagacaac	13	15	6	7	0	2	3	1	1	1	2	2	3	2	3	0	1	3	2	0	1	6	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732228G>C	uc001svv.3	+	9	1488	c.906G>C	c.(904-906)ttG>ttC	p.L302F	CNOT2_uc009zro.3_Missense_Mutation_p.L302F|CNOT2_uc009zrp.3_Missense_Mutation_p.L282F|CNOT2_uc009zrq.3_Missense_Mutation_p.L302F|CNOT2_uc001svw.1_Missense_Mutation_p.L42F	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	302					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCTAGAATTTGAATACATCTG	0.294													C	70732228	G	C	70732228	3	2	95	1	0	0	0	0	1	0	0	0	3650	1281	45	4	940	4	CNOT2	12	70732228	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	2180217	70732228	63119667	46	6214											
CNOT2	4848	broad.mit.edu	37	chr12	70732315	70732315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacaaaataataaccagcaGaaaaaagggatccaggtgtt	20	6	8	7	0	0	1	0	0	0	1	1	2	1	2	2	2	2	2	2	2	7	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr12:70732315G>C	uc001svv.3	+	9	1575	c.993G>C	c.(991-993)caG>caC	p.Q331H	CNOT2_uc009zro.3_Missense_Mutation_p.Q331H|CNOT2_uc009zrp.3_Missense_Mutation_p.Q311H|CNOT2_uc009zrq.3_Missense_Mutation_p.Q331H|CNOT2_uc001svw.1_Missense_Mutation_p.Q71H	NM_014515	NP_055330	Q9NZN8	CNOT2_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 2 (CNOT2), transcript variant 2, mRNA.	331					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ATAACCAGCAGAAAAAAGGGA	0.338													C	70732315	G	C	70732315	3	2	95	1	0	0	0	0	1	0	0	0	3650	933	33	4	1027	4	CNOT2	12	70732315	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	87	70732315	63119580	47	6215											
FSCB	84075	broad.mit.edu	37	chr14	44974567	44974567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagatagtggagactgagCttcagcaggagtttcatctg	10	11	12	8	0	4	3	3	1	1	2	4	5	4	4	0	2	2	3	0	2	1	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:44974567C>A	uc001wvn.3	-	0	1933	c.1624G>T	c.(1624-1626)Gct>Tct	p.A542S		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	542	Ala-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTGAGCTTCAGCAGGA	0.493													A	44974567	C	A	44974567	3	1	95	1	0	0	0	0	1	0	0	0	6118	797	28	4	857	4	FSCB	14	44974567	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08		44974567	62374973	48	6216											
ACTN1	87	broad.mit.edu	37	chr14	69349203	69349203	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctggatccagggcccgAtgacattggcctgggctcca	6	9	14	12	1	1	1	0	1	1	0	3	3	3	2	4	5	0	1	4	5	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:69349203A>C	uc001xkl.3	-	15	2235	c.1925T>G	c.(1924-1926)aTc>aGc	p.I642S	ACTN1_uc001xkk.3_Missense_Mutation_p.I238S|ACTN1_uc010ttb.2_Missense_Mutation_p.I577S|ACTN1_uc001xkm.3_Missense_Mutation_p.I642S|ACTN1_uc001xkn.3_Missense_Mutation_p.I642S|ACTN1_uc010ttc.2_Missense_Mutation_p.I227S	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	642	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGGGCCCGATGACATTGGC	0.642													C	69349203	A	C	69349203	3	2	95	1	0	0	0	0	1	0	0	0	204	333	12	5	847	5	ACTN1	14	69349203	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	24374636	69349203	38000337	49	6217											
ACOT4	122970	broad.mit.edu	37	chr14	74060458	74060458	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtattggagggggcctCttggaatatcgagccagcct	7	12	14	8	1	1	0	0	0	1	0	2	3	1	2	3	5	2	1	3	5	3	5			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr14:74060458C>A	uc001xoo.3	+	1	764	c.510C>A	c.(508-510)ctC>ctA	p.L170L		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	170					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GAGGGGGCCTCTTGGAATATC	0.423													A	74060458	C	A	74060458	2	1	95	1	0	0	0	0	0	0	0	1	153	900	32	4		4	ACOT4	14	74060458	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	4711255	74060458	33289082	50	6218											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107465	42107465	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcttcaggtctacccCgaggtgaaggatagtaacca	10	8	11	12	2	3	1	1	1	2	0	3	3	3	2	4	4	2	1	4	4	4	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr15:42107465C>T	uc001zok.4	+	11	1483	c.1197C>T	c.(1195-1197)ccC>ccT	p.P399P	MAPKBP1_uc010bci.3_Silent_p.P393P|MAPKBP1_uc010udb.2_Intron|MAPKBP1_uc001zoj.4_Silent_p.P393P|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	399										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		AGGTCTACCCCGAGGTGAAGG	0.572													T	42107465	C	T	42107465	2	4	95	1	0	0	0	0	0	0	0	1	9367	639	23	1		1	MAPKBP1	15	42107465	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08		42107465	60423927	51	6219											
CAMKK1	84254	broad.mit.edu	37	chr17	3772866	3772866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgcagtgctcctcctccGaaggaaggggctcctccccg	5	7	12	17	3	0	0	0	0	0	0	5	2	5	1	6	3	2	4	6	3	2	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:3772866G>A	uc002fwv.3	-	14	1518	c.1370C>T	c.(1369-1371)tCg>tTg	p.S457L	CAMKK1_uc002fwt.3_Missense_Mutation_p.S419L|CAMKK1_uc002fwu.3_Missense_Mutation_p.S419L	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	419	Calmodulin-binding (By similarity).				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S419L(1)|p.S457L(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		CTCCTCCTCCGAAGGAAGGGG	0.632													A	3772866	G	A	3772866	3	1	95	1	0	0	0	0	1	0	0	0	2632	1059	37	1	277	1	CAMKK1	17	3772866	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08		3772866	77422344	52	6220											
MED13	9969	broad.mit.edu	37	chr17	60061549	60061549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctctttgatgaatggCattgaaggccctgaagaaag	12	10	10	9	0	1	5	0	4	1	1	1	5	1	5	3	2	1	1	3	2	5	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:60061549C>A	uc002izo.3	-	14	2948	c.2871G>T	c.(2869-2871)atG>atT	p.M957I		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	957					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGATGAATGGCATTGAAGGCC	0.378													A	60061549	C	A	60061549	3	1	95	1	0	0	0	0	1	0	0	0	9505	710	25	4	3717	4	MED13	17	60061549	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	56288683	60061549	21133661	53	6221											
CBX8	57332	broad.mit.edu	37	chr17	77769275	77769275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaggccaggtcctggggcGagcggccagggtaggggatc	6	5	21	9	2	0	0	0	0	0	0	2	3	1	2	3	9	1	1	3	9	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr17:77769275G>A	uc002jxd.2	-	4	447	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_020649	NP_065700	Q9HC52	CBX8_HUMAN	Homo sapiens chromobox homolog 8 (CBX8), mRNA.	110					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear chromatin|PcG protein complex	methylated histone residue binding			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)	14			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GTCCTGGGGCGAGCGGCCAGG	0.657													A	77769275	G	A	77769275	3	1	95	1	0	0	0	0	1	0	0	0	2750	1045	37	1	819	1	CBX8	17	77769275	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	17707726	77769275	3425935	54	6222											
INO80C	125476	broad.mit.edu	37	chr18	33077703	33077703	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcaaagctggaagcggAcgcttttttcttcttactgg	7	13	11	10	3	2	0	0	0	2	0	2	2	2	2	0	3	4	3	0	3	3	5			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:33077703A>T	uc010dmt.3	-	0	253	c.136T>A	c.(136-138)Tcc>Acc	p.S46T	INO80C_uc002kyw.1_Missense_Mutation_p.S46T|INO80C_uc002kyx.4_5'Flank|INO80C_uc002kyy.4_Missense_Mutation_p.S46T	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	46					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CTGGAAGCGGACGCTTTTTTC	0.672													T	33077703	A	T	33077703	3	4	95	1	0	0	0	0	1	0	0	0	7806	275	10	5	578	5	INO80C	18	33077703	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		33077703	44999545	55	6223											
POLI	11201	broad.mit.edu	37	chr18	51820790	51820790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtacaaaaggaactgctgGcagagtggaagagagcagga	16	4	15	6	0	0	2	0	0	0	2	0	6	0	5	0	4	4	4	0	4	5	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr18:51820790G>A	uc002lfj.4	+	9	2244	c.2176G>A	c.(2176-2178)Gca>Aca	p.A726T	POLI_uc010xds.2_Missense_Mutation_p.A647T|POLI_uc002lfk.4_Missense_Mutation_p.A623T|POLI_uc010dpg.3_Missense_Mutation_p.A322T	NM_007195	NP_009126	Q9UNA4	POLI_HUMAN	Homo sapiens polymerase (DNA directed) iota (POLI), mRNA.	726					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding	p.A726T(1)|p.A701T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGAACTGCTGGCAGAGTGGAA	0.388								DNA polymerases (catalytic subunits)					A	51820790	G	A	51820790	3	1	95	1	0	0	0	0	1	0	0	0	12280	1203	42	2	2214	2	POLI	18	51820790	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	18743087	51820790	26256458	56	6224											
DUS3L	56931	broad.mit.edu	37	chr19	5790075	5790075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggattagggagggacAcagcctgttcttgtcgtagt	7	12	14	8	1	1	0	0	0	1	0	2	3	1	3	2	3	2	2	2	3	2	4			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:5790075A>C	uc002mdc.3	-	1	467	c.370T>G	c.(370-372)Tgt>Ggt	p.C124G	DUS3L_uc002mdd.3_Intron|DUS3L_uc010xiw.1_Intron	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	124					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						AGGGAGGGACACAGCCTGTTC	0.607													C	5790075	A	C	5790075	3	2	95	1	0	0	0	0	1	0	0	0	4846	159	6	5	1630	5	DUS3L	19	5790075	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		5790075	53338908	57	6225											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651442	8651442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccagtctccctgttacCatgacgatgagagatgcatt	9	10	9	13	1	1	3	0	2	1	1	2	5	1	3	4	0	2	2	4	0	1	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:8651442C>A	uc002mkj.1	-	20	2677	c.2403_splice	c.e20+1	p.M801_splice	ADAMTS10_uc002mki.1_Splice_Site_p.M288_splice|ADAMTS10_uc002mkk.1_Splice_Site_p.M433_splice	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	801	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCCTGTTACCATGACGATGA	0.597											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	8651442	C	A	8651442	3	1	95	1	0	0	0	0	1	0	0	0	256	608	21	4	936	4	ADAMTS10	19	8651442	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	2861367	8651442	50477541	58	6226											
CDC37	11140	broad.mit.edu	37	chr19	10506731	10506731	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtgcctcggcctgcAggcgctccagctctgccttg	2	10	13	16	2	1	0	0	0	1	0	3	0	2	0	4	2	5	5	4	2	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:10506731A>T	uc002mof.1	-	1	367	c.251T>A	c.(250-252)cTg>cAg	p.L84Q		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	84					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CTCGGCCTGCAGGCGCTCCAG	0.662													T	10506731	A	T	10506731	3	4	95	1	0	0	0	0	1	0	0	0	3098	188	7	5	913	5	CDC37	19	10506731	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	1855289	10506731	48622252	59	6227											
CC2D1A	54862	broad.mit.edu	37	chr19	14029731	14029731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtccggcccagaggtgcCcccacccccgaggaccctgc	5	4	11	21	2	0	1	0	0	0	1	1	3	1	2	8	3	2	0	8	3	0	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:14029731C>A	uc002mxo.2	+	9	1324	c.1025C>A	c.(1024-1026)cCc>cAc	p.P342H	CC2D1A_uc002mxn.2_Missense_Mutation_p.P241H|CC2D1A_uc002mxp.2_Missense_Mutation_p.P342H|CC2D1A_uc010dzh.2_5'UTR|CC2D1A_uc002mxq.1_5'UTR	NM_017721	NP_060191	Q6P1N0	C2D1A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 1A (CC2D1A), mRNA.	342	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CCAGAGGTGCCCCCACCCCCG	0.672													A	14029731	C	A	14029731	3	1	95	1	0	0	0	0	1	0	0	0	2752	623	22	4	1063	4	CC2D1A	19	14029731	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	3523000	14029731	45099252	60	6228											
MYO9B	4650	broad.mit.edu	37	chr19	17212559	17212559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaggcagctcgggccGccgggagcaggcggcctacc	7	2	18	14	4	0	1	0	0	0	1	1	2	0	2	4	6	3	4	4	6	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr19:17212559G>A	uc010eak.3	+	1	184	c.32G>A	c.(31-33)cGc>cAc	p.R11H	MYO9B_uc002nfi.3_Missense_Mutation_p.R11H|MYO9B_uc002nfj.1_Missense_Mutation_p.R11H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	11	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AGCTCGGGCCGCCGGGAGCAG	0.692													A	17212559	G	A	17212559	3	1	95	1	0	0	0	0	1	0	0	0	10161	1087	38	1	34	1	MYO9B	19	17212559	Missense_Mutation	SNP	G	TCGA-06-5856-01A-01D-1696-08	3182828	17212559	41916424	61	6229											
HCK	3055	broad.mit.edu	37	chr20	30661155	30661155	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacagcaacacaccaggaAtcagggagggtaagtatcta	17	5	10	9	0	2	0	1	0	1	0	2	2	2	2	1	3	3	3	1	3	6	3			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:30661155A>T	uc002wxh.3	+	2	454	c.217A>T	c.(217-219)Atc>Ttc	p.I73F	HCK_uc010gdy.3_Missense_Mutation_p.I53F|HCK_uc021wbv.1_Missense_Mutation_p.I52F|HCK_uc002wxi.3_Missense_Mutation_p.I52F	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	73					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.H72Q(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CACACCAGGAATCAGGGAGGG	0.512													T	30661155	A	T	30661155	3	4	95	1	0	0	0	0	1	0	0	0	7049	101	4	5	233	5	HCK	20	30661155	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		30661155	32364365	62	6230											
R3HDML	140902	broad.mit.edu	37	chr20	42973947	42973947	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgtgccatccacacCtgtagtagcatcagtgtctg	7	11	11	12	0	2	0	1	0	1	0	3	0	3	0	3	1	2	4	3	1	2	2			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:42973947C>T	uc002xls.1	+	3	730	c.558C>T	c.(556-558)acC>acT	p.T186T		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	186						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			CCATCCACACCTGTAGTAGCA	0.582													T	42973947	C	T	42973947	2	4	95	1	0	0	0	0	0	0	0	1	12977	668	24	2		2	R3HDML	20	42973947	Silent	SNP	C	TCGA-06-5856-01A-01D-1696-08	12312792	42973947	20051573	63	6231											
SEMG2	6407	broad.mit.edu	37	chr20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcatacccgtcttcaCgtacagaagaaagacaactt	17	9	5	10	2	3	3	2	0	1	3	3	3	3	3	1	0	3	1	1	0	7	5	rs140069155		TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr20:43851147C>T	uc010ggz.3	+	1	931	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													T	43851147	C	T	43851147	3	4	95	1	0	0	0	0	1	0	0	0	14138	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	877200	43851147	19174373	64	6232											
LZTR1	8216	broad.mit.edu	37	chr22	21349003	21349003	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccgcccggctgcagcTgagccaactcaaggtgtggg	7	6	16	12	2	1	1	1	1	0	0	1	2	1	1	3	3	5	3	3	3	2	0			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:21349003T>G	uc002zto.3	+	14	1875	c.1772T>G	c.(1771-1773)cTg>cGg	p.L591R	LZTR1_uc002ztn.3_Missense_Mutation_p.L550R|LZTR1_uc011ahy.2_Missense_Mutation_p.L572R	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	591					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CGGCTGCAGCTGAGCCAACTC	0.667													G	21349003	T	G	21349003	3	3	95	1	0	0	0	0	1	0	0	0	9208	1580	55	5	1830	5	LZTR1	22	21349003	Missense_Mutation	SNP	T	TCGA-06-5856-01A-01D-1696-08		21349003	29955563	65	6233											
PPIL2	23759	broad.mit.edu	37	chr22	22042378	22042378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagatccaagggggcgaccCcacaggcacaggcacgggta	12	2	14	13	2	0	1	0	0	0	1	1	2	1	1	3	5	0	3	3	5	2	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chr22:22042378C>A	uc010gtj.1	+	13	1120	c.1004C>A	c.(1003-1005)cCc>cAc	p.P335H	PPIL2_uc002zvh.4_Missense_Mutation_p.P335H|PPIL2_uc002zvi.4_Missense_Mutation_p.P335H|PPIL2_uc002zvg.4_Missense_Mutation_p.P335H|PPIL2_uc011aij.2_Missense_Mutation_p.P314H|PPIL2_uc002zvk.4_Missense_Mutation_p.P81H	NM_148175	NP_680480	Q13356	PPIL2_HUMAN	Homo sapiens peptidylprolyl isomerase (cyclophilin)-like 2 (PPIL2), transcript variant 2, mRNA.	335	PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					GGGGGCGACCCCACAGGCACA	0.642													A	22042378	C	A	22042378	3	1	95	1	0	0	0	0	1	0	0	0	12409	623	22	4	1058	4	PPIL2	22	22042378	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	693375	22042378	29262188	66	6234											
ZFX	7543	broad.mit.edu	37	chrX	24229156	24229156	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatgcaccagtgtagacAttgtgactttaagattgcag	15	11	9	6	0	0	3	0	1	0	2	0	3	0	3	1	0	2	3	1	0	4	5			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:24229156A>C	uc011mjv.2	+	9	2447	c.2198A>C	c.(2197-2199)cAt>cCt	p.H733P	ZFX_uc004dbd.2_Missense_Mutation_p.H694P|ZFX_uc004dbf.3_Missense_Mutation_p.H694P|ZFX_uc004dbe.3_3'UTR|ZFX_uc022bua.1_Missense_Mutation_p.H694P|ZFX_uc010nfx.2_Missense_Mutation_p.H465P|ZFX_uc010nfz.3_Missense_Mutation_p.H350P	NM_001178086	NP_001171557	P17010	ZFX_HUMAN	Homo sapiens zinc finger protein, X-linked (ZFX), transcript variant 4, mRNA.	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CAGTGTAGACATTGTGACTTT	0.433													C	24229156	A	C	24229156	3	2	95	1	0	0	0	0	1	0	0	0	17762	217	8	5	2166	5	ZFX	23	24229156	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08		24229156	131041404	67	6235											
HDAC6	10013	broad.mit.edu	37	chrX	48681101	48681101	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccttggagacccaccAcccctgctgaccctgccacg	6	7	7	21	1	0	2	0	1	0	1	2	3	2	2	8	1	2	1	8	1	0	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:48681101A>C	uc011mmi.1	+	23	2504	c.2409A>C	c.(2407-2409)ccA>ccC	p.P803P	HDAC6_uc004dks.1_Silent_p.P803P|HDAC6_uc010nig.1_Silent_p.P651P|HDAC6_uc004dkt.1_Silent_p.P803P|HDAC6_uc011mmk.1_Silent_p.P784P|HDAC6_uc004dkv.1_Silent_p.P451P|HDAC6_uc004dkw.1_Silent_p.P451P|HDAC6_uc004dkx.1_Silent_p.P166P	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	803					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding	p.P803P(4)		breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAGACCCACCACCCCTGCTGA	0.587													C	48681101	A	C	48681101	2	2	95	1	0	0	0	0	0	0	0	1	7066	146	6	5		5	HDAC6	23	48681101	Silent	SNP	A	TCGA-06-5856-01A-01D-1696-08	24451945	48681101	106589459	68	6236											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011638	105011638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccaaagagcttagctttaCcagtgatatttggtagtgaa	12	13	9	7	0	0	3	0	2	0	1	1	3	1	3	2	1	3	3	2	1	6	6			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:105011638C>T	uc004elz.1	+	10	2801	c.2045C>T	c.(2044-2046)aCc>aTc	p.T682I		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	682					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTAGCTTTACCAGTGATATT	0.393													T	105011638	C	T	105011638	3	4	95	1	0	0	0	0	1	0	0	0	7720	507	18	2	2083	2	IL1RAPL2	23	105011638	Missense_Mutation	SNP	C	TCGA-06-5856-01A-01D-1696-08	56330537	105011638	50258922	69	6237											
L1CAM	3897	broad.mit.edu	37	chrX	153141260	153141260	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggggctgcagaggaggAgaggccacacgtaccgcagc	10	2	18	11	2	0	2	0	0	0	2	0	4	0	3	2	6	3	5	2	6	1	1			TCGA-06-5856-01A-01D-1696-08	TCGA-06-5856-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bd9b573-712b-4da1-9c33-7b7f43d4af31	3c9bd859-2b0c-44d7-bfb2-eea6ae9c4de9	g.chrX:153141260A>C	uc004fjb.3	-	0	140	c.32T>G	c.(31-33)cTc>cGc	p.L11R	L1CAM_uc004fjc.3_Missense_Mutation_p.L11R|L1CAM_uc010nuo.3_Missense_Mutation_p.L11R|L1CAM_uc022chz.1_Missense_Mutation_p.L11R	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	11					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGAGGAGAGGCCACAC	0.682											OREG0003586	type=REGULATORY REGION|Gene=L1CAM|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	153141260	A	C	153141260	3	2	95	1	0	0	0	0	1	0	0	0	8647	304	11	5	3853	5	L1CAM	23	153141260	Missense_Mutation	SNP	A	TCGA-06-5856-01A-01D-1696-08	48129622	153141260	2129300	70	6238											
NOC2L	26155	broad.mit.edu	37	chr1	887446	887446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggcttcgctggggcccGcagtgctcaggacccggcac	5	5	17	14	3	1	0	1	0	0	0	2	2	1	2	2	6	1	5	2	6	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:887446G>A	uc009vjq.3	-	10	1324	c.1265C>T	c.(1264-1266)gCg>gTg	p.A422V	NOC2L_uc001aby.4_Missense_Mutation_p.A219V|NOC2L_uc001abz.4_Missense_Mutation_p.A422V	NM_015658	NP_056473	Q9Y3T9	NOC2L_HUMAN	Homo sapiens nucleolar complex associated 2 homolog (S. cerevisiae) (NOC2L), mRNA.	422						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCTGGGGCCCGCAGTGCTCAG	0.592													A	887446	G	A	887446	3	1	96	1	0	0	0	0	1	0	0	0	10589	1087	38	1	1020	1	NOC2L	1	887446	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		887446	248363175	1	6239											
PRDM16	63976	broad.mit.edu	37	chr1	3328828	3328828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgcaacgggcgccgcCggggactccatcaaggccat	8	5	13	15	4	1	1	1	1	0	0	2	2	2	2	4	4	2	1	4	4	2	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:3328828C>T	uc001akf.3	+	8	2149	c.2067C>T	c.(2065-2067)gcC>gcT	p.A689A	PRDM16_uc001ake.3_Silent_p.A689A|PRDM16_uc009vlh.3_Silent_p.A390A|PRDM16_uc001akc.3_Silent_p.A689A	NM_022114	NP_071397	Q9HAZ2	PRD16_HUMAN	Homo sapiens PR domain containing 16 (PRDM16), transcript variant 1, mRNA.	689	Interaction with CTBP1 and CTBP2 (By similarity).				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CGGGCGCCGCCGGGGACTCCA	0.642			T	EVI1	"MDS, AML"								T	3328828	C	T	3328828	2	4	96	1	0	0	0	0	0	0	0	1	12543	639	23	1		1	PRDM16	1	3328828	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2441382	3328828	245921793	2	6240											
GPR153	387509	broad.mit.edu	37	chr1	6314021	6314021	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccatggccacgctgccGcccaccagcagcaggaagca	10	2	11	18	3	0	0	0	0	0	0	0	1	0	1	5	2	4	4	5	2	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:6314021G>A	uc001amp.2	-	2	803	c.543C>T	c.(541-543)ggC>ggT	p.G181G		NM_207370	NP_997253	Q6NV75	GP153_HUMAN	Homo sapiens G protein-coupled receptor 153 (GPR153), mRNA.	181						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|liver(1)|lung(7)|skin(1)	14	Ovarian(185;0.0634)	all_cancers(23;8.07e-33)|all_epithelial(116;4.45e-18)|all_lung(118;1.09e-06)|all_neural(13;3.68e-06)|Lung NSC(185;1.52e-05)|all_hematologic(16;2.39e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00475)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;1.91e-37)|GBM - Glioblastoma multiforme(13;4.87e-29)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;1.33e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.246)		CCACGCTGCCGCCCACCAGCA	0.692													A	6314021	G	A	6314021	2	1	96	1	0	0	0	0	0	0	0	1	6713	1074	38	1		1	GPR153	1	6314021	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2985193	6314021	242936600	3	6241											
CLCN6	1185	broad.mit.edu	37	chr1	11893604	11893605	+	Frame_Shift_Ins	INS	-	-	T																															tgaattcaagtatcaagacaINStttttttgtcccaatgatac																										TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:11893604_11893605insT	uc001ate.4	+	13	1394_1395	c.1281_1282insT	c.(1279-1284)acatttfs	p.T427fs	CLCN6_uc010oat.2_Frame_Shift_Ins_p.T143fs|CLCN6_uc010oau.2_Frame_Shift_Ins_p.T405fs	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	427					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATCAAGACATTTTTTTGTCC	0.455													T	11893605	-	T	11893604	7	5	96	1	0	1	1	0	0	0	0	0	3498	204	8	0	1345	0	CLCN6	1	11893604	Frame_Shift_Ins	INS	-	TCGA-06-5858-01A-01D-1696-08	5579583	11893604	237357017	4	6242											
DNAJC16	23341	broad.mit.edu	37	chr1	15870908	15870908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggtgtaggaattggcGtggtccatgctgggtatgag	7	13	16	5	1	1	1	1	1	0	0	2	2	2	2	1	5	1	3	1	5	3	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:15870908G>A	uc001aws.3	+	4	709	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	DNAJC16_uc001awr.1_Missense_Mutation_p.V197M|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	197	Thioredoxin.				cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGAATTGGCGTGGTCCATGC	0.463													A	15870908	G	A	15870908	3	1	96	1	0	0	0	0	1	0	0	0	4674	1145	40	1	603	1	DNAJC16	1	15870908	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3977304	15870908	233379713	5	6243											
NUDC	10726	broad.mit.edu	37	chr1	27268025	27268025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagcccggcaggaggcCgagcggcgggagaaggcgga	11	0	21	9	5	0	2	0	0	0	2	0	7	0	4	2	7	2	1	2	7	2	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:27268025C>T	uc001bng.1	+	2	353	c.237C>T	c.(235-237)gcC>gcT	p.A79A	BC016143_uc021ojq.1_Intron	NM_006600	NP_006591	Q9Y266	NUDC_HUMAN	Homo sapiens nuclear distribution gene C homolog (A. nidulans) (NUDC), mRNA.	79					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGCAGGAGGCCGAGCGGCGGG	0.617													T	27268025	C	T	27268025	2	4	96	1	0	0	0	0	0	0	0	1	10797	639	23	1		1	NUDC	1	27268025	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	11397117	27268025	221982596	6	6244											
EPS15	2060	broad.mit.edu	37	chr1	51829678	51829678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagctcgatgtggctgaaCgaaaaggatcttcattgttg	11	11	12	7	2	2	2	1	1	1	1	3	5	2	3	0	2	2	3	0	2	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:51829678C>T	uc001csq.1	-	22	2311	c.2219G>A	c.(2218-2220)cGt>cAt	p.R740H	EPS15_uc009vyz.1_Missense_Mutation_p.R606H|EPS15_uc001csp.3_Missense_Mutation_p.R426H	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	740	15 X 3 AA repeats of D-P-F.				cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTGGCTGAACGAAAAGGATC	0.388			T	MLL	ALL								T	51829678	C	T	51829678	3	4	96	1	0	0	0	0	1	0	0	0	5233	536	19	1	483	1	EPS15	1	51829678	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24561653	51829678	197420943	7	6245											
DENND2D	79961	broad.mit.edu	37	chr1	111730833	111730833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacaaacttcttcacaaatCggcggttggtcttggaggtc	9	12	10	10	2	4	0	2	0	2	0	6	1	4	1	0	5	1	1	0	5	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:111730833C>T	uc001eak.1	-	10	1459	c.1259G>A	c.(1258-1260)cGa>cAa	p.R420Q	DENND2D_uc001eal.1_Missense_Mutation_p.R417Q	NM_024901	NP_079177	Q9H6A0	DEN2D_HUMAN	Homo sapiens DENN/MADD domain containing 2D (DENND2D), mRNA.	420	dDENN.							p.R420Q(2)		breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTTCACAAATCGGCGGTTGGT	0.498													T	111730833	C	T	111730833	3	4	96	1	0	0	0	0	1	0	0	0	4470	884	31	1	164	1	DENND2D	1	111730833	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	59901155	111730833	137519788	8	6246											
VANGL1	81839	broad.mit.edu	37	chr1	116226676	116226676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggccgaacatgaacggcGagtaaagaagcggaaagcaa	18	2	14	7	4	0	3	0	1	0	2	0	6	0	4	1	3	4	2	1	3	7	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:116226676G>A	uc001efv.1	+	5	1329	c.1058G>A	c.(1057-1059)cGa>cAa	p.R353Q	VANGL1_uc009wgy.1_Missense_Mutation_p.R351Q|VANGL1_uc021ose.1_Missense_Mutation_p.R353Q	NM_138959	NP_620409	Q8TAA9	VANG1_HUMAN	Homo sapiens vang-like 1 (van gogh, Drosophila) (VANGL1), transcript variant 1, mRNA.	353					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CATGAACGGCGAGTAAAGAAG	0.438													A	116226676	G	A	116226676	3	1	96	1	0	0	0	0	1	0	0	0	17221	1058	37	1	1076	1	VANGL1	1	116226676	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4495843	116226676	133023945	9	6247											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273241	145273241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgagacccctgtgagaagaAccgctgccagaatggtggga	11	6	14	10	2	0	4	0	1	0	4	1	7	0	5	4	2	2	1	4	2	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:145273241A>G	uc001emn.4	+	2	465	c.95A>G	c.(94-96)aAc>aGc	p.N32S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|NOTCH2NL_uc001emm.4_Missense_Mutation_p.N32S|NOTCH2NL_uc001emo.2_Missense_Mutation_p.N32S|NBPF10_uc010oyh.1_Non-coding_Transcript|NBPF10_uc021ouk.1_5'UTR	NM_203458	NP_982283	Q7Z3S9	NT2NL_HUMAN	Homo sapiens notch 2 N-terminal like (NOTCH2NL), mRNA.	32	EGF-like 2.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						TGTGAGAAGAACCGCTGCCAG	0.532													G	145273241	A	G	145273241	3	3	96	1	0	0	0	0	1	0	0	0	10625	43	2	3	101	3	NOTCH2NL	1	145273241	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	29046565	145273241	103977380	10	6248											
CHD1L	9557	broad.mit.edu	37	chr1	146766154	146766154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taactggtatggtactgagcGacttattcggaaacatctgg	11	12	11	7	2	1	1	0	1	1	0	2	3	1	2	0	4	4	2	0	4	5	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:146766154G>A	uc001epm.4	+	21	2633	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	CHD1L_uc001epn.4_Missense_Mutation_p.R744Q|CHD1L_uc010ozo.2_Non-coding_Transcript|CHD1L_uc009wjg.3_Non-coding_Transcript|CHD1L_uc009wjh.3_Missense_Mutation_p.R763Q|CHD1L_uc010ozp.2_Missense_Mutation_p.R576Q|CHD1L_uc001epo.4_Missense_Mutation_p.R653Q|CHD1L_uc009wji.3_Missense_Mutation_p.R576Q	NM_004284	NP_004275	Q86WJ1	CHD1L_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1-like (CHD1L), transcript variant 1, mRNA.	857	Macro.				chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					GGTACTGAGCGACTTATTCGG	0.423													A	146766154	G	A	146766154	3	1	96	1	0	0	0	0	1	0	0	0	3354	1058	37	1	2656	1	CHD1L	1	146766154	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1492913	146766154	102484467	11	6249											
INSRR	3645	broad.mit.edu	37	chr1	156823811	156823811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggcagtgccacgtcacGcagatgtggcatctcaaaga	11	7	12	11	2	2	2	2	0	1	2	3	2	2	2	1	2	2	4	1	2	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:156823811G>A	uc010pht.2	-	1	669	c.370C>T	c.(370-372)Cgt>Tgt	p.R124C	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron|INSRR_uc009wsj.2_Missense_Mutation_p.R124C	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	124					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCACGTCACGCAGATGTGGC	0.622													A	156823811	G	A	156823811	3	1	96	1	0	0	0	0	1	0	0	0	7832	1087	38	1	3606	1	INSRR	1	156823811	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10057657	156823811	92426810	12	6250											
CD84	8832	broad.mit.edu	37	chr1	160535290	160535290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtcttccatcctcagatCgctaatgaccagattgtagt	9	13	8	11	2	2	3	1	1	1	2	5	3	4	3	3	0	1	2	3	0	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:160535290C>T	uc001fwh.4	-	1	371	c.292G>A	c.(292-294)Gat>Aat	p.D98N	CD84_uc001fwf.4_Missense_Mutation_p.D98N|CD84_uc009wtn.3_Missense_Mutation_p.D98N|CD84_uc001fwi.4_Intron|CD84_uc001fwg.4_Missense_Mutation_p.D98N|CD84_uc001fwj.3_Missense_Mutation_p.D98N|CD84_uc001fwk.3_Missense_Mutation_p.D98N	NM_001184879	NP_001171808	Q9UIB8	SLAF5_HUMAN	Homo sapiens CD84 molecule (CD84), transcript variant 1, mRNA.	98					blood coagulation|defense response|homophilic cell adhesion|leukocyte migration	integral to plasma membrane	receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(1)	24	all_cancers(52;3.62e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATCCTCAGATCGCTAATGACC	0.463													T	160535290	C	T	160535290	3	4	96	1	0	0	0	0	1	0	0	0	3072	884	31	1	773	1	CD84	1	160535290	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3711479	160535290	88715331	13	6251											
BLZF1	8548	broad.mit.edu	37	chr1	169347745	169347745	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatacagtgtgatgtatggCgaagtaaattccttgcaagc	13	11	10	7	1	0	1	0	1	0	0	1	2	1	1	1	1	3	3	1	1	7	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:169347745C>T	uc001gfx.2	+	3	1083	c.646C>T	c.(646-648)Cga>Tga	p.R216*	BLZF1_uc001gfy.3_Nonsense_Mutation_p.R216*|BLZF1_uc009wvp.1_Nonsense_Mutation_p.R193*	NM_003666	NP_003657	Q9H2G9	GO45_HUMAN	Homo sapiens basic leucine zipper nuclear factor 1 (BLZF1), mRNA.	216					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding	p.R216*(4)|p.R216Q(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					TGATGTATGGCGAAGTAAATT	0.363													T	169347745	C	T	169347745	4	4	96	1	0	0	0	0	0	1	0	0	1459	760	27	1	656	1	BLZF1	1	169347745	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8812455	169347745	79902876	14	6252											
CENPF	1063	broad.mit.edu	37	chr1	214837072	214837072	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagggtcaagcgaggcCgacttgtccccagccccaaa	9	5	12	15	2	1	1	1	1	0	0	2	3	2	1	6	2	2	0	6	2	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:214837072C>T	uc001hkm.3	+	19	9454	c.9280C>T	c.(9280-9282)Cga>Tga	p.R3094*		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	3190	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAAGCGAGGCCGACTTGTCCC	0.582													T	214837072	C	T	214837072	4	4	96	1	0	0	0	0	0	1	0	0	3261	644	23	1	9354	1	CENPF	1	214837072	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	45489327	214837072	34413549	15	6253											
GNPAT	8443	broad.mit.edu	37	chr1	231401503	231401503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgaagggacaagaagcCgctctgccaagacattgact	12	7	10	12	2	1	3	0	1	1	2	3	5	2	4	3	1	2	1	3	1	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:231401503C>T	uc001hup.4	+	5	948	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	GNPAT_uc009xfo.1_Missense_Mutation_p.R139C|GNPAT_uc009xfp.3_Missense_Mutation_p.R187C	NM_014236	NP_055051	O15228	GNPAT_HUMAN	Homo sapiens glyceronephosphate O-acyltransferase (GNPAT), mRNA.	248					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GACAAGAAGCCGCTCTGCCAA	0.378													T	231401503	C	T	231401503	3	4	96	1	0	0	0	0	1	0	0	0	6597	652	23	1	764	1	GNPAT	1	231401503	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	16564431	231401503	17849118	16	6254											
RYR2	6262	broad.mit.edu	37	chr1	237729890	237729890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagccgaagtgtgcagcGgcaccggggaaaggttccga	10	4	16	11	4	0	1	0	0	0	1	1	4	1	2	4	4	3	3	4	4	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:237729890G>A	uc001hyl.1	+	27	3358	c.3238G>A	c.(3238-3240)Ggc>Agc	p.G1080S		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1080	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.T1079T(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGTGCAGCGGCACCGGGGA	0.502													A	237729890	G	A	237729890	3	1	96	1	0	0	0	0	1	0	0	0	13860	1116	39	1	3348	1	RYR2	1	237729890	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	6328387	237729890	11520731	17	6255											
WDR64	128025	broad.mit.edu	37	chr1	241946599	241946599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagctgctttcctggcGtgctcattctttggaaatta	8	14	9	10	1	2	0	1	0	1	0	3	1	3	1	1	2	4	4	1	2	3	4	rs141496101	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr1:241946599G>A	uc001hzg.2	+	21	2798	c.2591G>A	c.(2590-2592)cGt>cAt	p.R864H	WDR64_uc021plh.1_Missense_Mutation_p.R491H|WDR64_uc021pli.1_Missense_Mutation_p.R417H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	864										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CTTTCCTGGCGTGCTCATTCT	0.373													A	241946599	G	A	241946599	3	1	96	1	0	0	0	0	1	0	0	0	17417	1145	40	1	2677	1	WDR64	1	241946599	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4216709	241946599	7304022	18	6256											
ASAP2	8853	broad.mit.edu	37	chr2	9517083	9517083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagtcagatccgtggatcGaacctctcttcacattgtag	9	12	9	11	2	3	1	2	0	1	1	6	3	4	2	2	1	2	2	2	1	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:9517083G>A	uc002qzh.2	+	17	2133	c.1793G>A	c.(1792-1794)cGa>cAa	p.R598Q	ASAP2_uc002qzi.2_Missense_Mutation_p.R598Q	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	598					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						TCCGTGGATCGAACCTCTCTT	0.448													A	9517083	G	A	9517083	3	1	96	1	0	0	0	0	1	0	0	0	1016	1058	37	1	1863	1	ASAP2	2	9517083	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		9517083	233682290	19	6257											
GALNT14	79623	broad.mit.edu	37	chr2	31167749	31167749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccgtggggtccaggcGccgagccttctgctctgggg	2	8	18	13	3	2	0	0	0	2	0	4	1	4	0	4	6	2	2	4	6	0	1	rs143143842	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:31167749G>A	uc002rns.3	-	8	1457	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	GALNT14_uc002rnq.3_Missense_Mutation_p.R248C|GALNT14_uc010ymr.2_Missense_Mutation_p.R233C|GALNT14_uc002rnr.3_Missense_Mutation_p.R268C|GALNT14_uc010ezo.2_Missense_Mutation_p.R235C|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.R268C(1)		cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GGGTCCAGGCGCCGAGCCTTC	0.587													A	31167749	G	A	31167749	3	1	96	1	0	0	0	0	1	0	0	0	6266	1087	38	1	888	1	GALNT14	2	31167749	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	21650666	31167749	212031624	20	6258											
ARHGAP25	9938	broad.mit.edu	37	chr2	69034467	69034467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaattcggcccccatctgGtgcccatcctggtggagaaa	10	8	11	12	1	1	2	0	0	1	2	3	3	2	2	4	4	1	0	4	4	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:69034467G>A	uc010fdg.3	+	4	948	c.529G>A	c.(529-531)Gtg>Atg	p.V177M	ARHGAP25_uc010yqk.2_Missense_Mutation_p.V151M|ARHGAP25_uc010yql.2_Missense_Mutation_p.V137M|ARHGAP25_uc002sev.3_Missense_Mutation_p.V170M|ARHGAP25_uc002sew.3_Missense_Mutation_p.V169M|ARHGAP25_uc002sex.3_Missense_Mutation_p.V170M|ARHGAP25_uc010fdh.1_Non-coding_Transcript	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	176	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CCCCCATCTGGTGCCCATCCT	0.562													A	69034467	G	A	69034467	3	1	96	1	0	0	0	0	1	0	0	0	877	1261	44	2	587	2	ARHGAP25	2	69034467	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	37866718	69034467	174164906	21	6259											
C2orf68	388969	broad.mit.edu	37	chr2	85836146	85836146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgggtggatccagaggCgtgtgtgccgacaccttctc	6	9	14	12	3	1	1	0	0	1	1	3	3	2	2	3	3	1	1	3	3	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:85836146C>T	uc002sqc.2	-	3	495	c.423G>A	c.(421-423)acG>acA	p.T141T	USP39_uc002sqb.3_Intron	NM_001013649	NP_001013671	Q2NKX9	CB068_HUMAN	Homo sapiens chromosome 2 open reading frame 68 (C2orf68), mRNA.	141										breast(1)|central_nervous_system(1)|endometrium(1)	3						GATCCAGAGGCGTGTGTGCCG	0.572													T	85836146	C	T	85836146	2	4	96	1	0	0	0	0	0	0	0	1	2208	755	27	1		1	C2orf68	2	85836146	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	16801679	85836146	157363227	22	6260											
TBC1D8	11138	broad.mit.edu	37	chr2	101656773	101656773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgaacagtccacaaccGcgtgcagcttctccttcctc	9	8	8	16	3	1	1	0	0	1	1	5	2	3	1	4	0	5	2	4	0	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:101656773G>A	uc010fiv.3	-	5	1033	c.902C>T	c.(901-903)gCg>gTg	p.A301V	TBC1D8_uc010yvw.2_Missense_Mutation_p.A316V|TBC1D8_uc002tau.4_Missense_Mutation_p.A58V	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	301	GRAM 2.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GTCCACAACCGCGTGCAGCTT	0.577													A	101656773	G	A	101656773	3	1	96	1	0	0	0	0	1	0	0	0	15725	1087	38	1	2580	1	TBC1D8	2	101656773	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	15820627	101656773	141542600	23	6261											
TUBA3D	113457	broad.mit.edu	37	chr2	132238322	132238322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgactggatttaaGgtatgactgggtgatgtgga	8	12	16	5	1	0	2	0	2	0	0	0	5	0	4	1	5	1	1	1	5	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:132238322G>T	uc002tsu.4	+	4	1249	c.1056_splice	c.e4+1	p.K352_splice		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	352					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CTGGATTTAAGGTATGACTGG	0.552													T	132238322	G	T	132238322	3	4	96	1	0	0	0	0	1	0	0	0	16849	1014	35	4	1070	4	TUBA3D	2	132238322	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	30581549	132238322	110961051	24	6262											
TANC1	85461	broad.mit.edu	37	chr2	160074082	160074082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatggagctgctgtgtcgCggacaaacaggagaggggtt	9	7	18	7	2	0	1	0	0	0	1	1	4	0	3	0	6	3	4	0	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:160074082C>T	uc002uag.3	+	19	3593	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W	TANC1_uc010zcm.2_Missense_Mutation_p.R1099W|TANC1_uc010fom.1_Missense_Mutation_p.R913W|TANC1_uc010fon.3_5'UTR	NM_033394	NP_203752	Q9C0D5	TANC1_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1 (TANC1), transcript variant 1, mRNA.	1107						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGCTGTGTCGCGGACAAACAG	0.597													T	160074082	C	T	160074082	3	4	96	1	0	0	0	0	1	0	0	0	15641	759	27	1	3389	1	TANC1	2	160074082	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	27835760	160074082	83125291	25	6263											
TTN	7273	broad.mit.edu	37	chr2	179396884	179396884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagcatgttttgagatttCgtattcttcctcaatttctg	7	20	7	7	1	3	2	1	2	2	1	5	3	4	2	1	0	1	3	1	0	2	8			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:179396884C>T	uc021vsy.1	-	306	96979	c.96754G>A	c.(96754-96756)Gaa>Aaa	p.E32252K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E25947K|TTN_uc021vta.1_Missense_Mutation_p.E25880K|TTN_uc021vtb.1_Missense_Mutation_p.E25755K|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33179	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E32250K(1)|p.E25880K(1)|p.E25947K(1)|p.E25755K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGAGATTTCGTATTCTTCC	0.413													T	179396884	C	T	179396884	3	4	96	1	0	0	0	0	1	0	0	0	16837	893	31	1	3541	1	TTN	2	179396884	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	19322802	179396884	63802489	26	6264											
SPATS2L	26010	broad.mit.edu	37	chr2	201337625	201337625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctgctgaatgcgcaCgcagcaacctctgggaaaca	10	7	10	14	2	2	1	0	1	2	0	2	2	2	2	2	1	6	4	2	1	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:201337625C>T	uc010zhc.2	+	11	1344	c.1221C>T	c.(1219-1221)caC>caT	p.H407H	SPATS2L_uc002uvn.4_Silent_p.H377H|SPATS2L_uc010fst.3_Silent_p.H377H|SPATS2L_uc002uvo.4_Silent_p.H317H|SPATS2L_uc002uvp.4_Silent_p.H377H|SPATS2L_uc002uvq.4_Silent_p.H308H|SPATS2L_uc002uvr.4_Silent_p.H377H	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	377						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TGAATGCGCACGCAGCAACCT	0.483													T	201337625	C	T	201337625	2	4	96	1	0	0	0	0	0	0	0	1	15116	535	19	1		1	SPATS2L	2	201337625	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	21940741	201337625	41861748	27	6265											
PID1	55022	broad.mit.edu	37	chr2	230020577	230020577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcagcggtgtggtcGtgcacagctcaatggcctcc	6	11	11	13	2	4	0	3	0	1	0	6	0	5	0	2	3	3	2	2	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:230020577G>A	uc002vpr.4	-	1	271	c.233C>T	c.(232-234)aCg>aTg	p.T78M	PID1_uc002vps.4_Missense_Mutation_p.T76M|PID1_uc002vpt.4_Missense_Mutation_p.T45M|PID1_uc002vpu.4_Intron	NM_001100818	NP_001094288	Q7Z2X4	PCLI1_HUMAN	Homo sapiens phosphotyrosine interaction domain containing 1 (PID1), transcript variant 2, mRNA.	78						cytoplasm				breast(4)|endometrium(3)|large_intestine(5)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Renal(207;0.0112)|all_lung(227;0.0191)|Lung NSC(271;0.0851)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.171)		Epithelial(121;3.08e-11)|all cancers(144;2.28e-08)|LUSC - Lung squamous cell carcinoma(224;0.0145)|Lung(261;0.0189)		CGGTGTGGTCGTGCACAGCTC	0.517													A	230020577	G	A	230020577	3	1	96	1	0	0	0	0	1	0	0	0	11959	1145	40	1	527	1	PID1	2	230020577	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	28682952	230020577	13178796	28	6266											
UGT1A1	54600	broad.mit.edu	37	chr2	234580843	234580843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccctggaggatctggaccGggagttcaaggcttttgccc	7	10	13	11	1	2	0	1	0	1	0	2	4	2	4	3	5	2	2	3	5	2	4	rs148603525	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234580843G>A	uc002vus.3	+	0	300	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.R88Q	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	90					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.R88L(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GATCTGGACCGGGAGTTCAAG	0.408													A	234580843	G	A	234580843	3	1	96	1	0	0	0	0	1	0	0	0	17046	1116	39	1		1	UGT1A1	2	234580843	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4560266	234580843	8618530	29	6267											
TRPM8	79054	broad.mit.edu	37	chr2	234851383	234851383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaccctcatcaggaattgCgatgctgaggtaccggtggg	9	8	14	10	2	2	1	2	1	0	0	2	4	2	2	2	4	3	2	2	4	2	2	rs147774253		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:234851383C>T	uc002vvh.3	+	5	730	c.690C>T	c.(688-690)tgC>tgT	p.C230C	TRPM8_uc010fyj.3_5'UTR|TRPM8_uc002vvi.3_Silent_p.C180C|TRPM8_uc002vvj.3_Silent_p.C153C	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	230						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCAGGAATTGCGATGCTGAGG	0.562													T	234851383	C	T	234851383	2	4	96	1	0	0	0	0	0	0	0	1	16693	776	27	1		1	TRPM8	2	234851383	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	270540	234851383	8347990	30	6268											
KIF1A	547	broad.mit.edu	37	chr2	241728662	241728662	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccggcttactgaggtgtgCgaccagtaggagtagtcaaa	10	9	13	9	2	1	1	1	1	0	0	2	3	2	2	2	3	2	3	2	3	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr2:241728662C>T	uc010fzk.3	-	2	421	c.174G>A	c.(172-174)tcG>tcA	p.S58S	KIF1A_uc002vzy.3_Silent_p.S58S|KIF1A_uc002vzz.2_Silent_p.S58S	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	58	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTGAGGTGTGCGACCAGTAGG	0.612													T	241728662	C	T	241728662	2	4	96	1	0	0	0	0	0	0	0	1	8341	755	27	1		1	KIF1A	2	241728662	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	6877279	241728662	1470711	31	6269											
IL5RA	3568	broad.mit.edu	37	chr3	3139680	3139680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcctgggaaaccagcatgCgatatttctccccagtgtgt	9	11	10	11	1	1	0	0	0	1	0	3	2	2	1	4	1	3	1	4	1	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:3139680C>T	uc011ask.2	-	7	1227	c.583G>A	c.(583-585)Gca>Aca	p.A195T	IL5RA_uc010hbq.3_Missense_Mutation_p.A195T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Missense_Mutation_p.A195T|IL5RA_uc011asl.2_Missense_Mutation_p.A195T|IL5RA_uc011asm.1_Missense_Mutation_p.A195T|IL5RA_uc010hbt.2_Missense_Mutation_p.A195T|IL5RA_uc011asn.1_Missense_Mutation_p.A195T|IL5RA_uc010hbu.2_Missense_Mutation_p.A195T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	195					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity	p.A195S(2)		cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AACCAGCATGCGATATTTCTC	0.483													T	3139680	C	T	3139680	3	4	96	1	0	0	0	0	1	0	0	0	7758	768	27	1	729	1	IL5RA	3	3139680	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		3139680	194882750	32	6270											
SCN5A	6331	broad.mit.edu	37	chr3	38620857	38620857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctggggttccgcttTccactgctgccgccagtcgg	2	10	15	14	3	0	0	0	0	0	0	3	0	2	0	5	5	2	3	5	5	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:38620857T>C	uc021wvo.1	-	16	3410	c.3358A>G	c.(3358-3360)Aaa>Gaa	p.K1120E	SCN5A_uc021wvk.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvl.1_Intron|SCN5A_uc021wvm.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvn.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvp.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvq.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvr.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvs.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvt.1_Missense_Mutation_p.K1119E|SCN5A_uc021wvu.1_Intron|SCN5A_uc021wvv.1_Missense_Mutation_p.K1120E|SCN5A_uc021wvj.1_Intron|SCN5A_uc021wvi.1_Missense_Mutation_p.K986E|SCN5A_uc021wvw.1_Missense_Mutation_p.K730E	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	1120					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GGTTCCGCTTTCCACTGCTGC	0.662													C	38620857	T	C	38620857	3	2	96	1	0	0	0	0	1	0	0	0	14015	1792	62	3	2736	3	SCN5A	3	38620857	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	35481177	38620857	159401573	33	6271											
TTC21A	199223	broad.mit.edu	37	chr3	39152446	39152446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctctggctcataggcCgccatgacaaggccaaagag	10	9	10	12	1	2	2	1	1	1	1	3	2	3	2	4	3	0	1	4	3	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:39152446C>T	uc003cjc.2	+	3	550	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	TTC21A_uc003cja.3_Missense_Mutation_p.R125C|TTC21A_uc010hho.2_Missense_Mutation_p.R88C|TTC21A_uc003cjb.3_Intron|TTC21A_uc011ayx.1_Missense_Mutation_p.R125C|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	125							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GCTCATAGGCCGCCATGACAA	0.502													T	39152446	C	T	39152446	3	4	96	1	0	0	0	0	1	0	0	0	16789	652	23	1	387	1	TTC21A	3	39152446	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	531589	39152446	158869984	34	6272											
NBEAL2	23218	broad.mit.edu	37	chr3	47040042	47040042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttatcttggatgctctgCgcacccactacaggtgaggc	8	11	11	11	1	2	1	0	1	2	0	2	2	2	2	1	3	3	3	1	3	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:47040042C>T	uc003cqp.3	+	21	3387	c.3208C>T	c.(3208-3210)Cgc>Tgc	p.R1070C	NBEAL2_uc010hjm.2_Missense_Mutation_p.R631C	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1070							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GGATGCTCTGCGCACCCACTA	0.612											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47040042	C	T	47040042	3	4	96	1	0	0	0	0	1	0	0	0	10265	768	27	1	3294	1	NBEAL2	3	47040042	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7887596	47040042	150982388	35	6273											
NCKIPSD	51517	broad.mit.edu	37	chr3	48719898	48719898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcagcatccaagtggtgGtcactggttgatgaggtcat	9	10	14	8	0	2	2	2	2	0	0	3	2	3	2	1	4	2	4	1	4	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:48719898G>C	uc003cun.3	-	2	463	c.369C>G	c.(367-369)gaC>gaG	p.D123E	NCKIPSD_uc003cum.3_Missense_Mutation_p.D123E|NCKIPSD_uc010hkh.2_Missense_Mutation_p.D123E	NM_016453	NP_057537	Q9NZQ3	SPN90_HUMAN	Homo sapiens NCK interacting protein with SH3 domain (NCKIPSD), transcript variant 1, mRNA.	123					cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCAAGTGGTGGTCACTGGTTG	0.592													C	48719898	G	C	48719898	3	2	96	1	0	0	0	0	1	0	0	0	10301	1252	44	4	1843	4	NCKIPSD	3	48719898	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1679856	48719898	149302532	36	6274											
P4HTM	54681	broad.mit.edu	37	chr3	49043241	49043241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttttatttgaacaacGtcactggtgggggcgagact	8	13	13	7	2	1	2	1	1	0	1	1	3	1	2	0	3	3	2	0	3	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:49043241G>A	uc003cvh.3	+	6	1637	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	P4HTM_uc003cvg.3_Missense_Mutation_p.V369I|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	369	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	TTTGAACAACGTCACTGGTGG	0.542													A	49043241	G	A	49043241	3	1	96	1	0	0	0	0	1	0	0	0	11436	1145	40	1	1314	1	P4HTM	3	49043241	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	323343	49043241	148979189	37	6275											
TMF1	7110	broad.mit.edu	37	chr3	69097037	69097037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtctcttgtctcgagctCgctgagctctcacttattac	6	15	8	12	2	3	1	1	1	3	0	7	2	3	1	0	0	3	4	0	0	3	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:69097037C>T	uc011bfx.2	-	1	1066	c.819G>A	c.(817-819)gcG>gcA	p.A273A	TMF1_uc003dnn.3_Silent_p.A273A	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	273					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		GTCTCGAGCTCGCTGAGCTCT	0.398													T	69097037	C	T	69097037	2	4	96	1	0	0	0	0	0	0	0	1	16328	871	31	1		1	TMF1	3	69097037	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	20053796	69097037	128925393	38	6276											
FILIP1L	11259	broad.mit.edu	37	chr3	99568062	99568062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccattgatgactgcacGttccagaggaatgaggctct	10	10	11	10	1	1	5	0	4	1	1	2	6	2	6	2	2	1	3	2	2	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:99568062G>A	uc003dtm.3	-	4	2921	c.2458C>T	c.(2458-2460)Cgt>Tgt	p.R820C	MIR548G_uc021xbq.1_Intron|C3orf26_uc003dtk.2_Intron|C3orf26_uc003dtl.3_Intron|FILIP1L_uc003dto.3_Missense_Mutation_p.R820C|FILIP1L_uc010hpf.3_Missense_Mutation_p.R396C|FILIP1L_uc010hpg.3_Missense_Mutation_p.R580C|FILIP1L_uc003dtn.3_Missense_Mutation_p.R580C|FILIP1L_uc021xbr.1_Missense_Mutation_p.R580C|FILIP1L_uc003dtp.1_Missense_Mutation_p.R580C	NM_182909	NP_878913	Q4L180	FIL1L_HUMAN	Homo sapiens filamin A interacting protein 1-like (FILIP1L), transcript variant 1, mRNA.	820						cytoplasm|membrane|myosin complex|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	35						ATGACTGCACGTTCCAGAGGA	0.438													A	99568062	G	A	99568062	3	1	96	1	0	0	0	0	1	0	0	0	5944	1145	40	1	978	1	FILIP1L	3	99568062	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	30471025	99568062	98454368	39	6277											
KALRN	8997	broad.mit.edu	37	chr3	124017688	124017688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattcctccagagccacacGgagatcggagtcagctacca	11	8	9	13	2	1	2	1	0	0	2	4	4	3	3	4	2	3	1	4	2	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124017688G>A	uc003ehg.3	+	5	1141	c.1014G>A	c.(1012-1014)acG>acA	p.T338T	KALRN_uc010hrv.1_Silent_p.T338T|KALRN_uc003ehf.1_Silent_p.T338T|KALRN_uc011bjy.1_Silent_p.T338T	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	338					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGAGCCACACGGAGATCGGAG	0.512													A	124017688	G	A	124017688	2	1	96	1	0	0	0	0	0	0	0	1	8033	1103	39	1		1	KALRN	3	124017688	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	24449626	124017688	74004742	40	6278											
ZNF148	7707	broad.mit.edu	37	chr3	124951615	124951615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctattgatgggcatggtgGcatagacctgcttgtctatg	8	13	13	7	0	1	2	0	1	1	1	1	2	1	2	1	3	2	4	1	3	3	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:124951615G>A	uc003ehx.4	-	8	2441	c.1955C>T	c.(1954-1956)gCc>gTc	p.A652V	SLC12A8_uc003ehw.4_Intron|ZNF148_uc003ehz.4_Missense_Mutation_p.A652V|ZNF148_uc010hsa.3_Missense_Mutation_p.A652V|ZNF148_uc003eia.4_Missense_Mutation_p.A652V|ZNF148_uc003ehy.3_Intron	NM_021964	NP_068799	Q9UQR1	ZN148_HUMAN	Homo sapiens zinc finger protein 148 (ZNF148), mRNA.	652					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GGGCATGGTGGCATAGACCTG	0.443													A	124951615	G	A	124951615	3	1	96	1	0	0	0	0	1	0	0	0	17835	1203	42	2	433	2	ZNF148	3	124951615	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	933927	124951615	73070815	41	6279											
CCDC37	348807	broad.mit.edu	37	chr3	126153184	126153184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgccccaggtcaagatcGagcaggccgagagggcaaag	12	3	15	11	3	1	2	1	0	0	2	2	4	1	2	3	3	2	2	3	3	2	0	rs141942694	by1000genomes	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:126153184G>A	uc010hsg.1	+	13	1650	c.1591G>A	c.(1591-1593)Gag>Aag	p.E531K	CCDC37_uc003eiu.1_Missense_Mutation_p.E530K	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	530										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGTCAAGATCGAGCAGGCCGA	0.637													A	126153184	G	A	126153184	3	1	96	1	0	0	0	0	1	0	0	0	2836	1059	37	1	1642	1	CCDC37	3	126153184	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1201569	126153184	71869246	42	6280											
IFT122	55764	broad.mit.edu	37	chr3	129195512	129195512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccccgcaggtggtcGgctgccaggacggcaccatt	6	7	12	16	3	1	0	1	0	1	0	3	1	1	1	4	5	1	3	4	5	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:129195512G>A	uc003eml.3	+	11	1374	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	IFT122_uc003emm.3_Missense_Mutation_p.G339S|IFT122_uc003emn.3_Missense_Mutation_p.G280S|IFT122_uc003emo.3_Missense_Mutation_p.G228S|IFT122_uc003emp.3_Missense_Mutation_p.G189S|IFT122_uc010htc.3_Missense_Mutation_p.G331S|IFT122_uc011bky.2_Missense_Mutation_p.G130S|IFT122_uc011bla.2_Missense_Mutation_p.G130S|IFT122_uc003emr.3_Missense_Mutation_p.G130S|IFT122_uc011bkx.1_Missense_Mutation_p.G179S|IFT122_uc011bkz.1_Non-coding_Transcript	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	339					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GCAGGTGGTCGGCTGCCAGGA	0.527													A	129195512	G	A	129195512	3	1	96	1	0	0	0	0	1	0	0	0	7613	1116	39	1	1214	1	IFT122	3	129195512	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3042328	129195512	68826918	43	6281											
CEP63	80254	broad.mit.edu	37	chr3	134226076	134226076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacttgcttgaaaatccGtgaacaggaacttaagagtc	16	9	9	7	1	0	4	0	2	0	2	2	5	1	5	1	1	4	1	1	1	6	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:134226076G>A	uc003eqo.1	+	3	619	c.170G>A	c.(169-171)cGt>cAt	p.R57H	CEP63_uc003eql.1_Missense_Mutation_p.R57H|CEP63_uc003eqm.3_Missense_Mutation_p.R57H|CEP63_uc003eqn.1_Missense_Mutation_p.R57H	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	57					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding	p.R57C(1)		kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TTGAAAATCCGTGAACAGGAA	0.368													A	134226076	G	A	134226076	3	1	96	1	0	0	0	0	1	0	0	0	3287	1145	40	1	176	1	CEP63	3	134226076	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5030564	134226076	63796354	44	6282											
CPB1	1360	broad.mit.edu	37	chr3	148545842	148545842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcacattaacataatccGcgagttggccagcacgaccc	14	7	7	13	3	1	0	1	0	0	0	2	2	2	0	3	1	2	2	3	1	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:148545842G>A	uc003ewl.3	+	1	148	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	42					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding	p.R42H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AACATAATCCGCGAGTTGGCC	0.363													A	148545842	G	A	148545842	3	1	96	1	0	0	0	0	1	0	0	0	3827	1087	38	1	131	1	CPB1	3	148545842	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	14319766	148545842	49476588	45	6283											
EPHB3	2049	broad.mit.edu	37	chr3	184298249	184298249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgcggggcattgctgcCggcatgaagtacctgtccga	7	10	14	10	3	0	1	0	1	0	0	1	2	1	1	3	3	4	5	3	3	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:184298249C>T	uc003foz.3	+	11	2669	c.2232C>T	c.(2230-2232)gcC>gcT	p.A744A		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	744	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GCATTGCTGCCGGCATGAAGT	0.572													T	184298249	C	T	184298249	2	4	96	1	0	0	0	0	0	0	0	1	5217	639	23	1		1	EPHB3	3	184298249	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	35752407	184298249	13724181	46	6284											
LIPH	200879	broad.mit.edu	37	chr3	185245282	185245282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgttaccatcagtgtcGgaatggatgacatcaacaaa	14	8	11	8	2	2	1	2	1	0	0	3	4	2	4	1	3	3	1	1	3	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:185245282G>A	uc003fpm.3	-	3	728	c.618C>T	c.(616-618)tcC>tcT	p.S206S	LIPH_uc010hyh.3_Intron	NM_139248	NP_640341	Q8WWY8	LIPH_HUMAN	Homo sapiens lipase, member H (LIPH), mRNA.	206					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity	p.H205N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CATCAGTGTCGGAATGGATGA	0.527													A	185245282	G	A	185245282	2	1	96	1	0	0	0	0	0	0	0	1	8885	1103	39	1		1	LIPH	3	185245282	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	947033	185245282	12777148	47	6285											
BCL6	604	broad.mit.edu	37	chr3	187442788	187442788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagagtctgaaggtgccGgaaacgggtgccacagattt	10	9	13	9	2	2	3	1	1	1	2	2	4	2	4	2	3	3	0	2	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:187442788G>A	uc003frp.3	-	8	2375	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R584W|BCL6_uc010hza.2_Missense_Mutation_p.R538W|BCL6_uc003frq.2_Missense_Mutation_p.R640W	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	640					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TGAAGGTGCCGGAAACGGGTG	0.557			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								A	187442788	G	A	187442788	3	1	96	1	0	0	0	0	1	0	0	0	1381	1115	39	1	210	1	BCL6	3	187442788	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2197506	187442788	10579642	48	6286											
TP63	8626	broad.mit.edu	37	chr3	189582118	189582118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagggagctgttatccGcgccatgcctgtctacaaaa	9	10	9	13	2	2	0	1	0	1	0	4	1	4	1	4	1	3	2	4	1	4	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr3:189582118G>A	uc003fry.2	+	4	766	c.677G>A	c.(676-678)cGc>cAc	p.R226H	TP63_uc003frx.2_Missense_Mutation_p.R226H|TP63_uc003frz.2_Missense_Mutation_p.R226H|TP63_uc010hzc.1_Missense_Mutation_p.R226H|TP63_uc003fsa.2_Missense_Mutation_p.R132H|TP63_uc003fsb.2_Missense_Mutation_p.R132H|TP63_uc003fsc.2_Missense_Mutation_p.R132H|TP63_uc003fsd.2_Missense_Mutation_p.R132H|TP63_uc021xir.1_Missense_Mutation_p.R132H|TP63_uc010hzd.1_Missense_Mutation_p.R47H|TP63_uc003fse.1_Missense_Mutation_p.R107H	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	226					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		GCTGTTATCCGCGCCATGCCT	0.522										HNSCC(45;0.13)			A	189582118	G	A	189582118	3	1	96	1	0	0	0	0	1	0	0	0	16493	1087	38	1	741	1	TP63	3	189582118	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2139330	189582118	8440312	49	6287											
ADD1	118	broad.mit.edu	37	chr4	2877779	2877779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatggcaccagaccttcGccaggacttcaacatgatgg	12	7	10	12	1	1	2	1	1	0	1	2	4	1	3	3	3	2	1	3	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:2877779G>A	uc003gfq.3	+	1	325	c.137G>A	c.(136-138)cGc>cAc	p.R46H	ADD1_uc010ico.1_Missense_Mutation_p.R46H|ADD1_uc003gfo.3_Missense_Mutation_p.R46H|ADD1_uc003gfp.3_Missense_Mutation_p.R46H|ADD1_uc003gfr.3_Missense_Mutation_p.R46H|ADD1_uc003gfs.3_Missense_Mutation_p.R46H|ADD1_uc003gft.3_Missense_Mutation_p.R46H	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	46					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding	p.R46C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGACCTTCGCCAGGACTTC	0.517													A	2877779	G	A	2877779	3	1	96	1	0	0	0	0	1	0	0	0	304	1087	38	1	139	1	ADD1	4	2877779	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		2877779	188276497	50	6288											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68964683	68964683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtgaaaagagctagccGtactgagtcccaaaattgct	14	10	9	8	1	0	3	0	2	0	1	1	3	1	3	2	0	4	3	2	0	7	4	rs140054355	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:68964683G>A	uc003hdt.1	-	1	134	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W		NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	29					proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						AGAGCTAGCCGTACTGAGTCC	0.378													A	68964683	G	A	68964683	3	1	96	1	0	0	0	0	1	0	0	0	16343	1144	40	1	1267	1	TMPRSS11F	4	68964683	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	66086904	68964683	122189593	51	6289											
RXFP1	59350	broad.mit.edu	37	chr4	159567947	159567947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatgactcctctaggtgcCgactgcttaatgggaatata	11	12	9	9	1	1	1	0	1	1	0	2	3	2	2	2	2	2	1	2	2	6	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:159567947C>T	uc003ipz.3	+	15	1613	c.1350C>T	c.(1348-1350)gcC>gcT	p.A450A	RXFP1_uc010iqk.3_Silent_p.A318A|RXFP1_uc011cja.2_Silent_p.A345A|RXFP1_uc010iqo.3_Silent_p.A402A|RXFP1_uc011cjb.2_Silent_p.A348A|RXFP1_uc011cjc.2_Silent_p.A369A|RXFP1_uc011cjd.2_Silent_p.A369A|RXFP1_uc010iql.3_Silent_p.A294A|RXFP1_uc011cje.2_Silent_p.A477A|RXFP1_uc010iqm.3_Silent_p.A417A|RXFP1_uc011cjf.2_Silent_p.A319A|RXFP1_uc010iqn.3_Silent_p.A395A	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	450						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.A450D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCTAGGTGCCGACTGCTTAA	0.348													T	159567947	C	T	159567947	2	4	96	1	0	0	0	0	0	0	0	1	13850	639	23	1		1	RXFP1	4	159567947	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	90603264	159567947	31586329	52	6290											
ASB5	140458	broad.mit.edu	37	chr4	177143569	177143569	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttactgcatttacattataAccctaaatgtggcataattt	13	16	5	7	0	0	0	0	0	0	0	0	0	0	0	1	1	4	3	1	1	7	8			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:177143569A>G	uc003iuq.2	-	2	393	c.279T>C	c.(277-279)ggT>ggC	p.G93G	ASB5_uc003iup.2_Silent_p.G40G	NM_080874	NP_543150	Q8WWX0	ASB5_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 5 (ASB5), mRNA.	93					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TTACATTATAACCCTAAATGT	0.398													G	177143569	A	G	177143569	2	3	96	1	0	0	0	0	0	0	0	1	1031	30	2	3		3	ASB5	4	177143569	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	17575622	177143569	14010707	53	6291											
ZFP42	132625	broad.mit.edu	37	chr4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggactttaatttgcgtaCgcacgtgcgcatccacacgg	8	11	10	12	5	1	0	0	0	1	0	2	1	2	1	1	2	3	3	1	2	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr4:188924752C>T	uc003izh.1	+	3	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	264					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483													T	188924752	C	T	188924752	3	4	96	1	0	0	0	0	1	0	0	0	17751	536	19	1	793	1	ZFP42	4	188924752	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	11781183	188924752	2229524	54	6292											
NIPBL	25836	broad.mit.edu	37	chr5	36984865	36984865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaccagcttctcaggagaCgggttctacgggaaatgggt	10	9	14	8	2	2	2	1	0	2	2	3	4	2	3	1	4	2	2	1	4	3	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:36984865C>T	uc003jkl.4	+	9	2082	c.1583C>T	c.(1582-1584)aCg>aTg	p.T528M	NIPBL_uc003jkk.4_Missense_Mutation_p.T528M|NIPBL_uc003jkm.1_Missense_Mutation_p.T407M	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	528					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding	p.T528T(1)		autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTCAGGAGACGGGTTCTACG	0.448													T	36984865	C	T	36984865	3	4	96	1	0	0	0	0	1	0	0	0	10504	536	19	1	1617	1	NIPBL	5	36984865	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		36984865	143930395	55	6293											
MAST4	375449	broad.mit.edu	37	chr5	66416869	66416869	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaatgcctccctgaaacttCgaaggaaacctcgggaaagt	13	8	9	11	2	0	1	0	1	0	0	3	4	1	3	3	2	3	0	3	2	5	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:66416869C>T	uc021xzk.1	+	13	1992	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	MAST4_uc003jut.2_Nonsense_Mutation_p.R373*|MAST4_uc003juu.1_Nonsense_Mutation_p.R383*|MAST4_uc011cra.1_Nonsense_Mutation_p.R356*|MAST4_uc003juv.2_Nonsense_Mutation_p.R368*|MAST4_uc003juw.3_Nonsense_Mutation_p.R368*	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	565						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CCTGAAACTTCGAAGGAAACC	0.313													T	66416869	C	T	66416869	4	4	96	1	0	0	0	0	0	1	0	0	9402	876	31	1	1868	1	MAST4	5	66416869	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	29432004	66416869	114498391	56	6294											
PDE8B	8622	broad.mit.edu	37	chr5	76709099	76709099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgccgacgtcctgcacGccaccgctttctttcttgga	5	12	9	15	4	2	0	0	0	2	0	3	2	3	1	4	1	3	3	4	1	0	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:76709099G>A	uc003kfa.3	+	16	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	PDE8B_uc003kfd.3_Missense_Mutation_p.A579T|PDE8B_uc003kfe.3_Missense_Mutation_p.A529T|PDE8B_uc003kfb.3_Missense_Mutation_p.A606T|PDE8B_uc003kfc.3_Missense_Mutation_p.A571T	NM_003719	NP_003710	O95263	PDE8B_HUMAN	Homo sapiens phosphodiesterase 8B (PDE8B), transcript variant 1, mRNA.	626	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		CGTCCTGCACGCCACCGCTTT	0.478													A	76709099	G	A	76709099	3	1	96	1	0	0	0	0	1	0	0	0	11730	1087	38	1	1942	1	PDE8B	5	76709099	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10292230	76709099	104206161	57	6295											
FBXL17	64839	broad.mit.edu	37	chr5	107684192	107684192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatcttgtaacactggcCgaaatgaatatctttgagtt	12	14	9	6	1	2	3	0	3	2	1	2	5	2	3	1	1	1	2	1	1	4	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:107684192C>T	uc011cvc.2	-	3	1821	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	FBXL17_uc003kon.4_Missense_Mutation_p.G74S	NM_001163315	NP_001156787	Q9UF56	FXL17_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 17 (FBXL17), mRNA.	472										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		TAACACTGGCCGAAATGAATA	0.368													T	107684192	C	T	107684192	3	4	96	1	0	0	0	0	1	0	0	0	5762	652	23	1	715	1	FBXL17	5	107684192	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	30975093	107684192	73231068	58	6296											
KCNN2	3781	broad.mit.edu	37	chr5	113740527	113740527	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcattatggataattgcCgcatggactgtccgagcttg	9	13	10	9	2	1	0	1	0	1	0	3	3	2	2	2	2	2	2	2	2	2	4	rs147034356	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:113740527C>T	uc003kqo.3	+	2	1432	c.975C>T	c.(973-975)gcC>gcT	p.A325A		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	325						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.A325G(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GGATAATTGCCGCATGGACTG	0.328													T	113740527	C	T	113740527	2	4	96	1	0	0	0	0	0	0	0	1	8137	639	23	1		1	KCNN2	5	113740527	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	6056335	113740527	67174733	59	6297											
PCDHAC2	56145	broad.mit.edu	37	chr5	140180853	140180853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctgctcctcgcagcctCggaggtggggagcggccagc	4	8	15	14	3	2	0	0	0	2	0	5	2	3	2	3	5	4	2	3	5	0	1	rs147990915		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140180853C>T	uc003lhf.2	+	0	71	c.71C>T	c.(70-72)tCg>tTg	p.S24L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.S24L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	37					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCAGCCTCGGAGGTGGGG	0.597													T	140180853	C	T	140180853	3	4	96	1	0	0	0	0	1	0	0	0	11609	893	31	1		1	PCDHAC2	5	140180853	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	26440326	140180853	40734407	60	6298											
PCDHAC2	56144	broad.mit.edu	37	chr5	140188279	140188279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcgggtaggggagcgcGcgctgtcgagctacgtttcg	5	7	19	10	8	0	0	0	0	0	0	2	2	0	1	0	4	4	4	0	4	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140188279G>A	uc003lhi.2	+	0	1608	c.1507G>A	c.(1507-1509)Gcg>Acg	p.A503T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.A503T|PCDHAC2_uc011daa.2_Missense_Mutation_p.A503T	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	517	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGGGAGCGCGCGCTGTCGAG	0.662													A	140188279	G	A	140188279	3	1	96	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140188279	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	7426	140188279	40726981	61	6299											
PCDHB4	56131	broad.mit.edu	37	chr5	140502471	140502471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaataaatgaagtcacGggagaaatactgttgaaaaa	18	10	8	5	1	2	3	2	2	1	1	3	4	2	3	0	1	1	1	0	1	8	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140502471G>A	uc003lip.1	+	0	891	c.891G>A	c.(889-891)acG>acA	p.T297T		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	297	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGAAGTCACGGGAGAAATAC	0.358													A	140502471	G	A	140502471	2	1	96	1	0	0	0	0	0	0	0	1	11620	1103	39	1		1	PCDHB4	5	140502471	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	314192	140502471	40412789	62	6300											
PCDHGC5	56114	broad.mit.edu	37	chr5	140712338	140712338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggcggccgcggtctcctgcg	2	9	16	14	5	2	0	0	0	2	0	3	0	2	0	3	6	2	1	3	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140712338C>T	uc003lji.2	+	0	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGC5_uc011dan.2_Missense_Mutation_p.A696V	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A696V(2)|p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGCGGCCGCG	0.672													T	140712338	C	T	140712338	3	4	96	1	0	0	0	0	1	0	0	0	11647	768	27	1		1	PCDHGC5	5	140712338	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	209867	140712338	40202922	63	6301											
PCDHGC5	56100	broad.mit.edu	37	chr5	140789386	140789386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccgcgaccacggctcGcccacgctcagcgccaacgt	7	3	11	20	7	1	0	1	0	0	0	2	1	1	0	4	2	2	2	4	2	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140789386G>A	uc003lkj.2	+	0	1617	c.1617G>A	c.(1615-1617)tcG>tcA	p.S539S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Silent_p.S539S	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	541	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCACGGCTCGCCCACGCTCA	0.701													A	140789386	G	A	140789386	2	1	96	1	0	0	0	0	0	0	0	1	11647	1074	38	1		1	PCDHGC5	5	140789386	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	77048	140789386	40125874	64	6302											
PCDHGC5	56105	broad.mit.edu	37	chr5	140802272	140802272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcacttactctctgaCggatgacactgtccaggggg	7	10	12	12	1	2	2	1	2	1	0	4	3	3	3	2	4	1	0	2	4	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:140802272C>T	uc003lkq.2	+	0	1736	c.1478C>T	c.(1477-1479)aCg>aTg	p.T493M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.T493M|PCDHGC5_uc003lkp.2_Missense_Mutation_p.T493M	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	494	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACTCTCTGACGGATGACACT	0.532													T	140802272	C	T	140802272	3	4	96	1	0	0	0	0	1	0	0	0	11647	536	19	1		1	PCDHGC5	5	140802272	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	12886	140802272	40112988	65	6303											
PDGFRB	5159	broad.mit.edu	37	chr5	149497261	149497261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagggggatgatatagtcGttgtcaccctcattgggctg	7	11	15	8	1	2	1	2	1	0	0	3	2	2	2	1	4	0	3	1	4	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:149497261G>A	uc003lro.3	-	21	3526	c.3057C>T	c.(3055-3057)aaC>aaT	p.N1019N	PDGFRB_uc010jhd.3_Silent_p.N858N	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	1019					aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity	p.N1019N(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGATATAGTCGTTGTCACCCT	0.642			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149497261	G	A	149497261	2	1	96	1	0	0	0	0	0	0	0	1	11738	1136	40	1		1	PDGFRB	5	149497261	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	8694989	149497261	31417999	66	6304											
FGF18	8817	broad.mit.edu	37	chr5	170883601	170883601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggagaacaactacaCggccctgatgtcggctaagt	10	9	12	10	2	1	2	0	1	1	1	2	3	1	2	1	4	3	2	1	4	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:170883601C>T	uc003mbk.3	+	4	953	c.416C>T	c.(415-417)aCg>aTg	p.T139M		NM_003862	NP_003853	O76093	FGF18_HUMAN	Homo sapiens fibroblast growth factor 18 (FGF18), mRNA.	139					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell proliferation	extracellular space|nucleolus	growth factor activity|type 1 fibroblast growth factor receptor binding|type 2 fibroblast growth factor receptor binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	9	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AACAACTACACGGCCCTGATG	0.592													T	170883601	C	T	170883601	3	4	96	1	0	0	0	0	1	0	0	0	5895	536	19	1	434	1	FGF18	5	170883601	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	21386340	170883601	10031659	67	6305											
TSPAN17	26262	broad.mit.edu	37	chr5	176078841	176078841	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagttggaggcgtcatgtcGgtgctgggctttgctggctg	3	13	18	7	2	1	0	1	0	0	0	2	1	1	1	0	5	2	6	0	5	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr5:176078841G>A	uc003met.3	+	2	454	c.225G>A	c.(223-225)tcG>tcA	p.S75S	TSPAN17_uc003mes.3_Intron|TSPAN17_uc003meu.3_Silent_p.S75S|TSPAN17_uc003mew.3_Silent_p.S75S	NM_012171	NP_036303	Q96FV3	TSN17_HUMAN	Homo sapiens tetraspanin 17 (TSPAN17), transcript variant 1, mRNA.	75						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGTCATGTCGGTGCTGGGCT	0.612													A	176078841	G	A	176078841	2	1	96	1	0	0	0	0	0	0	0	1	16742	1103	39	1		1	TSPAN17	5	176078841	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	5195240	176078841	4836419	68	6306											
WRNIP1	56897	broad.mit.edu	37	chr6	2770518	2770518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actattttaatgcgagcgatCaactccctgggaatccacgt	11	11	8	11	3	1	0	1	0	0	0	3	3	3	1	2	1	3	0	2	1	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:2770518C>T	uc003mtz.3	+	2	1370	c.1179C>T	c.(1177-1179)atC>atT	p.I393I	WRNIP1_uc003mua.3_Silent_p.I368I	NM_020135	NP_064520	Q96S55	WRIP1_HUMAN	Homo sapiens Werner helicase interacting protein 1 (WRNIP1), transcript variant 1, mRNA.	393					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				TGCGAGCGATCAACTCCCTGG	0.532													T	2770518	C	T	2770518	2	4	96	1	0	0	0	0	0	0	0	1	17505	816	29	2		2	WRNIP1	6	2770518	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		2770518	168344549	69	6307											
SLC35B3	51000	broad.mit.edu	37	chr6	8422856	8422856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtaggtttttcctggtaTtctgtaaaagacaattttta	11	18	7	5	0	1	1	0	0	1	1	2	1	2	1	1	2	0	4	1	2	6	9			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:8422856T>C	uc011did.2	-	5	797	c.420_splice	c.e5-1	p.R140_splice	SLC35B3_uc003myc.3_Intron|SLC35B3_uc003myd.3_Splice_Site|SLC35B3_uc010joe.3_Splice_Site_p.R140_splice|SLC35B3_uc003myb.3_Splice_Site_p.R140_splice	NM_001142540	NP_057032	Q9H1N7	S35B3_HUMAN	Homo sapiens solute carrier family 35, member B3 (SLC35B3), transcript variant 2, mRNA.	140					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TTTCCTGGTATTCTGTAAAAG	0.338													C	8422856	T	C	8422856	3	2	96	1	0	0	0	0	1	0	0	0	14671	1507	52	3	812	3	SLC35B3	6	8422856	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	5652338	8422856	162692211	70	6308											
HIVEP1	3096	broad.mit.edu	37	chr6	12124017	12124017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catagaggacgtttctaaaaCggaggcttcccccaaaatcg	13	8	9	11	3	1	1	0	0	1	1	3	3	2	3	2	3	1	2	2	3	5	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:12124017C>T	uc003nac.3	+	3	4168	c.3989C>T	c.(3988-3990)aCg>aTg	p.T1330M	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1330					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.T1330T(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GTTTCTAAAACGGAGGCTTCC	0.433													T	12124017	C	T	12124017	3	4	96	1	0	0	0	0	1	0	0	0	7241	536	19	1	3999	1	HIVEP1	6	12124017	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3701161	12124017	158991050	71	6309											
SIRT5	23408	broad.mit.edu	37	chr6	13588650	13588650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcagaaagtggtgttcCgaccttcagaggagctggag	10	9	15	7	1	1	2	1	0	0	2	2	5	2	4	2	3	2	3	2	3	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:13588650C>T	uc003nay.3	+	3	515	c.203C>T	c.(202-204)cCg>cTg	p.P68L	SIRT5_uc003naw.3_Missense_Mutation_p.P68L|SIRT5_uc003nax.3_Intron|SIRT5_uc011dit.2_Missense_Mutation_p.P68L	NM_012241	NP_001229756	Q9NXA8	SIRT5_HUMAN	Homo sapiens sirtuin 5 (SIRT5), transcript variant 1, mRNA.	68	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	AGTGGTGTTCCGACCTTCAGA	0.423													T	13588650	C	T	13588650	3	4	96	1	0	0	0	0	1	0	0	0	14435	652	23	1	209	1	SIRT5	6	13588650	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1464633	13588650	157526417	72	6310											
SCAND3	114821	broad.mit.edu	37	chr6	28554340	28554340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactgcctgaagcgctgaCgagagagttccctggtataa	12	8	12	9	2	0	4	0	2	0	2	1	6	1	4	2	1	3	3	2	1	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:28554340C>T	uc003nlo.3	-	0	773	c.155G>A	c.(154-156)cGt>cAt	p.R52H	AK056211_uc003nlp.1_5'Flank	NM_052923	NP_443155	Q6R2W3	SCND3_HUMAN	Homo sapiens SCAN domain containing 3 (SCAND3), mRNA.	52	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						GAAGCGCTGACGAGAGAGTTC	0.507													T	28554340	C	T	28554340	3	4	96	1	0	0	0	0	1	0	0	0	13968	536	19	1	3838	1	SCAND3	6	28554340	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14965690	28554340	142560727	73	6311											
CSNK2B	1460	broad.mit.edu	37	chr6	31637206	31637206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacggatggcgcctacttcGgcactggtttccctcacatg	7	10	10	14	3	1	0	1	0	0	0	3	1	2	1	2	4	1	2	2	4	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31637206G>A	uc003nvr.1	+	5	818	c.478G>A	c.(478-480)Ggc>Agc	p.G160S	LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	160					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						CGCCTACTTCGGCACTGGTTT	0.562													A	31637206	G	A	31637206	3	1	96	1	0	0	0	0	1	0	0	0	3992	1116	39	1	496	1	CSNK2B	6	31637206	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3082866	31637206	139477861	74	6312											
EHMT2	10919	broad.mit.edu	37	chr6	31852241	31852241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgcggttgagttgaagcGcaaaccacacgtcggagcgc	9	7	14	11	5	0	2	0	2	0	0	1	3	0	3	1	2	4	4	1	2	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:31852241G>A	uc003nxz.1	-	20	2709	c.2699C>T	c.(2698-2700)gCg>gTg	p.A900V	EHMT2_uc003nxx.1_Missense_Mutation_p.A98V|EHMT2_uc003nxy.1_Missense_Mutation_p.A698V|EHMT2_uc011don.1_Missense_Mutation_p.A923V|EHMT2_uc003nya.1_Missense_Mutation_p.A866V	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	900					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GAGTTGAAGCGCAAACCACAC	0.612													A	31852241	G	A	31852241	3	1	96	1	0	0	0	0	1	0	0	0	5023	1087	38	1	965	1	EHMT2	6	31852241	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	215035	31852241	139262826	75	6313											
CYP21A2	1589	broad.mit.edu	37	chr6	32008215	32008215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaggagctagaccaCgaactgggccctggtgcctc	8	6	14	13	1	0	1	0	0	0	1	1	4	0	3	3	4	4	2	3	4	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:32008215C>T	uc003nze.2	+	7	1079	c.972C>T	c.(970-972)caC>caT	p.H324H	CYP21A2_uc003nzf.2_Silent_p.H294H	NM_000500	NP_000491	P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	323					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						AGCTAGACCACGAACTGGGCC	0.677													T	32008215	C	T	32008215	2	4	96	1	0	0	0	0	0	0	0	1	4186	535	19	1		1	CYP21A2	6	32008215	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	155974	32008215	139106852	76	6314											
USP49	25862	broad.mit.edu	37	chr6	41773646	41773646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagggtgtgcagttcaCggcagagggaaatgtgcttt	10	9	17	5	1	1	2	1	0	0	2	1	4	1	4	0	4	2	4	0	4	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:41773646C>T	uc003ori.3	-	3	1298	c.1076G>A	c.(1075-1077)cGt>cAt	p.R359H		NM_018561	NP_061031	Q70CQ1	UBP49_HUMAN	Homo sapiens ubiquitin specific peptidase 49 (USP49), mRNA.	359					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTGCAGTTCACGGCAGAGGGA	0.602													T	41773646	C	T	41773646	3	4	96	1	0	0	0	0	1	0	0	0	17182	536	19	1	862	1	USP49	6	41773646	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	9765431	41773646	129341421	77	6315											
GPR116	221395	broad.mit.edu	37	chr6	46836637	46836637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccattccactccctggtcGaggtcttgactgtcagtact	7	12	8	14	1	2	1	1	1	1	0	5	2	4	1	3	2	1	1	3	2	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836637G>A	uc003oyo.3	-	11	1893	c.1604C>T	c.(1603-1605)tCg>tTg	p.S535L	GPR116_uc011dwj.1_Missense_Mutation_p.S90L|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Missense_Mutation_p.S393L|GPR116_uc003oyq.3_Missense_Mutation_p.S535L|GPR116_uc010jzi.1_Missense_Mutation_p.S207L	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	535	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTCCCTGGTCGAGGTCTTGAC	0.448													A	46836637	G	A	46836637	3	1	96	1	0	0	0	0	1	0	0	0	6687	1059	37	1	2476	1	GPR116	6	46836637	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5062991	46836637	124278430	78	6316											
GPR116	221395	broad.mit.edu	37	chr6	46836810	46836810	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaacagaaattgggtcCggggttattgttagattggc	11	12	13	5	1	1	3	1	0	0	3	2	3	2	3	1	4	1	2	1	4	4	5	rs150327469		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:46836810C>T	uc003oyo.3	-	11	1720	c.1431G>A	c.(1429-1431)ccG>ccA	p.P477P	GPR116_uc011dwj.1_Silent_p.P32P|GPR116_uc011dwk.1_5'UTR|GPR116_uc003oyp.3_Silent_p.P335P|GPR116_uc003oyq.3_Silent_p.P477P|GPR116_uc010jzi.1_Silent_p.P149P	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	477	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			AAATTGGGTCCGGGGTTATTG	0.363													T	46836810	C	T	46836810	2	4	96	1	0	0	0	0	0	0	0	1	6687	639	23	1		1	GPR116	6	46836810	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	173	46836810	124278257	79	6317											
TAB2	23118	broad.mit.edu	37	chr6	149699411	149699411	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggccagtccaatagtgaActatttcagcaggagccaca	12	8	11	10	0	1	1	1	1	0	0	2	2	2	2	3	3	3	1	3	3	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:149699411A>G	uc003qmj.3	+	2	538	c.360A>G	c.(358-360)gaA>gaG	p.E120E	TAB2_uc011eec.2_Silent_p.E88E|TAB2_uc010kia.1_Silent_p.E120E|TAB2_uc010kib.2_Silent_p.E120E|TAB2_uc003qmk.4_Non-coding_Transcript	NM_015093	NP_055908	Q9NYJ8	TAB2_HUMAN	Homo sapiens TGF-beta activated kinase 1/MAP3K7 binding protein 2 (TAB2), mRNA.	120					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCAATAGTGAACTATTTCAGC	0.458													G	149699411	A	G	149699411	2	3	96	1	0	0	0	0	0	0	0	1	15593	40	2	3		3	TAB2	6	149699411	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	102862601	149699411	21415656	80	6318											
MLLT4	4301	broad.mit.edu	37	chr6	168348980	168348980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattttacaggagcagaCgcctccgcctagacctgaag	11	8	9	13	2	1	3	1	1	0	2	2	4	2	4	4	1	2	1	4	1	3	3	rs145954704	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr6:168348980C>T	uc021zik.1	+	27	3828	c.3509C>T	c.(3508-3510)aCg>aTg	p.T1170M	MLLT4_uc003qwb.1_Missense_Mutation_p.T1195M|MLLT4_uc003qwc.2_Missense_Mutation_p.T1211M|MLLT4_uc021zij.1_Missense_Mutation_p.T1194M|MLLT4_uc021zim.1_Missense_Mutation_p.T757M|MLLT4_uc003qwg.1_Missense_Mutation_p.T520M	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1211					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CAGGAGCAGACGCCTCCGCCT	0.418			T	MLL	AL								T	168348980	C	T	168348980	3	4	96	1	0	0	0	0	1	0	0	0	9704	536	19	1	3742	1	MLLT4	6	168348980	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	18649569	168348980	2766087	81	6319											
SDK1	221935	broad.mit.edu	37	chr7	4091337	4091337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tattgccccagatttccacgGagtccaccatggacacataa	12	9	7	13	1	0	1	0	0	0	1	2	3	2	3	5	2	1	0	5	2	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4091337G>A	uc003smx.3	+	18	2925	c.2786G>A	c.(2785-2787)gGa>gAa	p.G929E	SDK1_uc010kso.3_Missense_Mutation_p.G205E	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	929	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GATTTCCACGGAGTCCACCAT	0.567													A	4091337	G	A	4091337	3	1	96	1	0	0	0	0	1	0	0	0	14061	1174	41	2	2860	2	SDK1	7	4091337	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		4091337	155047326	82	6320											
PAPOLB	56903	broad.mit.edu	37	chr7	4900644	4900644	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttccgtacaagagttgaCgctactgcatttggataaag	13	12	9	7	2	0	2	0	1	0	1	1	3	1	3	1	1	3	4	1	1	6	6	rs112213840		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:4900644C>T	uc003snk.3	-	0	982	c.798G>A	c.(796-798)gcG>gcA	p.A266A	RADIL_uc003sng.1_Intron|RADIL_uc003snj.1_Intron|RADIL_uc011jwd.1_Intron	NM_020144	NP_064529	Q9NRJ5	PAPOB_HUMAN	Homo sapiens poly(A) polymerase beta (testis specific) (PAPOLB), mRNA.	265					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			kidney(1)|large_intestine(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.089)|OV - Ovarian serous cystadenocarcinoma(56;2.06e-14)		CAAGAGTTGACGCTACTGCAT	0.428													T	4900644	C	T	4900644	2	4	96	1	0	0	0	0	0	0	0	1	11506	523	19	1		1	PAPOLB	7	4900644	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	809307	4900644	154238019	83	6321											
FBXL18	80028	broad.mit.edu	37	chr7	5521489	5521489	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaccagggggacgtcccGgatgacgtcggtcaggccct	6	6	16	13	4	1	1	1	1	0	0	3	3	2	3	3	5	1	1	3	5	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5521489G>T	uc003son.4	-	4	2168	c.2074C>A	c.(2074-2076)Cgg>Agg	p.R692R		NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	0									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GGGACGTCCCGGATGACGTCG	0.642													T	5521489	G	T	5521489	2	4	96	1	0	0	0	0	0	0	0	1	5763	1115	39	4		4	FBXL18	7	5521489	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	620845	5521489	153617174	84	6322											
FBXL18	80028	broad.mit.edu	37	chr7	5540355	5540355	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccccgacactctgtgcGcggctgcagggtgggagcga	6	6	17	12	4	1	0	0	0	1	0	2	4	2	1	2	3	3	2	2	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:5540355G>A	uc003soo.2	-	2	1639	c.1545C>T	c.(1543-1545)cgC>cgT	p.R515R	FBXL18_uc003son.4_Silent_p.R515R	NM_024963	NP_079239	Q96ME1	FXL18_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 18 (FBXL18), mRNA.	515									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		CACTCTGTGCGCGGCTGCAGG	0.687													A	5540355	G	A	5540355	2	1	96	1	0	0	0	0	0	0	0	1	5763	1074	38	1		1	FBXL18	7	5540355	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	18866	5540355	153598308	85	6323											
MRPL32	64983	broad.mit.edu	37	chr7	42974713	42974713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgtaggagaagaaatcCgcagaagcttattaaagtta	15	9	11	6	2	0	3	0	0	0	3	1	4	1	3	2	2	1	4	2	2	8	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:42974713C>T	uc003tia.3	+	1	337	c.290C>T	c.(289-291)cCg>cTg	p.P97L	C7orf25_uc010kxr.3_5'Flank|PSMA2_uc003thy.3_5'Flank|PSMA2_uc003thz.1_5'Flank|MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	97					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAGAAATCCGCAGAAGCTT	0.408													T	42974713	C	T	42974713	3	4	96	1	0	0	0	0	1	0	0	0	9871	652	23	1	296	1	MRPL32	7	42974713	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	37434358	42974713	116163950	86	6324											
ZMIZ2	83637	broad.mit.edu	37	chr7	44806136	44806136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaaaccctcccccagcGtcccggcagtccttgggcca	7	7	8	19	2	1	0	1	0	0	0	4	0	4	0	6	2	2	1	6	2	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:44806136G>A	uc003tlr.3	+	17	2652	c.2529G>A	c.(2527-2529)gcG>gcA	p.A843A	ZMIZ2_uc003tlq.3_Silent_p.A785A|ZMIZ2_uc003tls.3_Silent_p.A817A|ZMIZ2_uc003tlt.3_Silent_p.A466A|ZMIZ2_uc010kyj.3_Silent_p.A365A|ZMIZ2_uc003tlu.3_Silent_p.A124A|ZMIZ2_uc010kyk.2_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	843	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTCCCCCAGCGTCCCGGCAGT	0.647													A	44806136	G	A	44806136	2	1	96	1	0	0	0	0	0	0	0	1	17798	1132	40	1		1	ZMIZ2	7	44806136	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1831423	44806136	114332527	87	6325											
TNS3	64759	broad.mit.edu	37	chr7	47342939	47342939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccactggggcggtgccGaagcccaggaaggcctggct	6	6	15	14	2	0	0	0	0	0	0	1	2	1	1	4	6	2	1	4	6	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:47342939G>A	uc003tnw.3	-	21	3424	c.3066C>T	c.(3064-3066)ttC>ttT	p.F1022F	TNS3_uc022acn.1_Silent_p.F579F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1022						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GGGCGGTGCCGAAGCCCAGGA	0.682													A	47342939	G	A	47342939	2	1	96	1	0	0	0	0	0	0	0	1	16444	1049	37	1		1	TNS3	7	47342939	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2536803	47342939	111795724	88	6326											
POM121L12	285877	broad.mit.edu	37	chr7	53104043	53104043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaaaaatggagcggttGcttccttcgtgcccaggcca	9	9	12	11	2	0	1	0	1	0	0	2	2	1	2	3	3	4	3	3	3	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:53104043G>T	uc003tpz.3	+	0	695	c.679G>T	c.(679-681)Gct>Tct	p.A227S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	227								p.A227S(2)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGGAGCGGTTGCTTCCTTCGT	0.647													T	53104043	G	T	53104043	3	4	96	1	0	0	0	0	1	0	0	0	12318	1319	46	4	681	4	POM121L12	7	53104043	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5761104	53104043	106034620	89	6327											
ZNF107	51427	broad.mit.edu	37	chr7	64168851	64168851	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaaccctacaaatgtgaAgaatgtggcaaatcctttaa	17	9	8	7	0	0	3	0	1	0	2	1	4	1	3	2	1	2	1	2	1	7	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:64168851A>G	uc003ttd.3	+	6	2955	c.2169A>G	c.(2167-2169)gaA>gaG	p.E723E	ZNF107_uc003tte.3_Silent_p.E723E	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				ACAAATGTGAAGAATGTGGCA	0.348													G	64168851	A	G	64168851	2	3	96	1	0	0	0	0	0	0	0	1	17816	69	3	3		3	ZNF107	7	64168851	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	11064808	64168851	94969812	90	6328											
CALN1	83698	broad.mit.edu	37	chr7	71252795	71252795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggagtatctggttggctgCaatcagcatgacactgatga	10	10	12	9	1	2	3	1	3	1	0	2	4	2	4	1	3	2	5	1	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:71252795C>T	uc003twb.4	-	6	1142	c.751G>A	c.(751-753)Gca>Aca	p.A251T	CALN1_uc003twa.4_Missense_Mutation_p.A209T|CALN1_uc003twc.4_Missense_Mutation_p.A209T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	209						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGGTTGGCTGCAATCAGCATG	0.587													T	71252795	C	T	71252795	3	4	96	1	0	0	0	0	1	0	0	0	2617	710	25	2	38	2	CALN1	7	71252795	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7083944	71252795	87885868	91	6329											
RHBDD2	57414	broad.mit.edu	37	chr7	75511205	75511205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatctccctgctctgcggCgctatcatcatctggcgctt	4	12	8	17	3	5	0	2	0	3	0	6	0	5	0	2	2	2	3	2	2	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:75511205C>T	uc003udw.1	+	1	321	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RHBDD2_uc003udv.1_5'UTR	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	79						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGCTCTGCGGCGCTATCATCA	0.567													T	75511205	C	T	75511205	2	4	96	1	0	0	0	0	0	0	0	1	13406	755	27	1		1	RHBDD2	7	75511205	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	4258410	75511205	83627458	92	6330											
ZAN	7455	broad.mit.edu	37	chr7	100350423	100350423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccatctccacagaaaaaCtcaccatccccacagaaaaa	18	5	2	16	0	2	2	1	0	1	2	4	2	3	2	5	0	2	0	5	0	5	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:100350423C>T	uc003uwj.3	+	13	2860	c.2695C>T	c.(2695-2697)Ctc>Ttc	p.L899F	ZAN_uc003uwk.3_Missense_Mutation_p.L899F|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	899	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGAAAAACTCACCATCCC	0.517													T	100350423	C	T	100350423	3	4	96	1	0	0	0	0	1	0	0	0	17615	565	20	2	2745	2	ZAN	7	100350423	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24839218	100350423	58788240	93	6331											
SLC26A5	375611	broad.mit.edu	37	chr7	103014906	103014906	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgggaagggggagcCgaggcttcctgttcagcaag	7	8	15	11	1	1	0	1	0	0	0	4	3	4	2	4	4	2	3	4	4	2	2	rs138320783	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103014906C>A	uc003vbz.3	-	19	2437	c.2175G>T	c.(2173-2175)tcG>tcT	p.S725S	SLC26A5_uc003vbt.2_Intron|SLC26A5_uc003vbu.2_Intron|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.S693S	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	725					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						AAGGGGGAGCCGAGGCTTCCT	0.532													A	103014906	C	A	103014906	2	1	96	1	0	0	0	0	0	0	0	1	14614	639	23	4		4	SLC26A5	7	103014906	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2664483	103014906	56123757	94	6332											
RELN	5649	broad.mit.edu	37	chr7	103162532	103162532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtactcaatttccctccGttcacagtcagccagttctg	8	13	6	14	1	4	0	3	0	1	0	6	0	6	0	3	0	2	3	3	0	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:103162532G>A	uc022ajr.1	-	47	7765	c.7605C>T	c.(7603-7605)aaC>aaT	p.N2535N	RELN_uc022ajq.1_Silent_p.N2535N|RELN_uc010liz.3_Silent_p.N2535N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2535					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTTCCCTCCGTTCACAGTCA	0.532													A	103162532	G	A	103162532	2	1	96	1	0	0	0	0	0	0	0	1	13308	1136	40	1		1	RELN	7	103162532	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	147626	103162532	55976131	95	6333											
CTTNBP2	83992	broad.mit.edu	37	chr7	117375046	117375046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaccgcagctgcacccagCggaaatgctgctgcaccagc	9	4	10	18	2	0	0	0	0	0	0	0	1	0	1	4	1	7	6	4	1	1	0	rs35288952		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:117375046C>T	uc003vjf.3	-	15	3889	c.3797G>A	c.(3796-3798)cGc>cAc	p.R1266H		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1266										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CTGCACCCAGCGGAAATGCTG	0.532													T	117375046	C	T	117375046	3	4	96	1	0	0	0	0	1	0	0	0	4078	768	27	1	1226	1	CTTNBP2	7	117375046	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14212514	117375046	41763617	96	6334											
AASS	10157	broad.mit.edu	37	chr7	121773679	121773679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcccttctctcccaggcGttcacatcctccctccggac	4	9	9	19	2	2	0	1	0	1	0	7	1	6	1	5	4	0	1	5	4	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:121773679G>A	uc003vka.3	-	0	198	c.102C>T	c.(100-102)aaC>aaT	p.N34N	AASS_uc011knu.2_Non-coding_Transcript|AASS_uc011knv.2_Non-coding_Transcript|AASS_uc003vkb.3_Silent_p.N34N|AASS_uc011knw.2_Intron	NM_005763	NP_005754	Q9UDR5	AASS_HUMAN	Homo sapiens aminoadipate-semialdehyde synthase (AASS), nuclear gene encoding mitochondrial protein, mRNA.	34	Lysine-ketoglutarate reductase.				protein tetramerization	mitochondrial matrix	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity|saccharopine dehydrogenase (NADP+, L-lysine-forming) activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(6)|large_intestine(12)|lung(27)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	54					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTCCCAGGCGTTCACATCCT	0.582													A	121773679	G	A	121773679	2	1	96	1	0	0	0	0	0	0	0	1	24	1136	40	1		1	AASS	7	121773679	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	4398633	121773679	37364984	97	6335											
NRF1	4899	broad.mit.edu	37	chr7	129357145	129357145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacccaggcggtggcatcGttggcagaggccgcagtggc	6	5	17	13	3	0	1	0	0	0	1	1	1	0	1	3	6	0	4	3	6	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:129357145G>A	uc003vpa.3	+	8	1272	c.1152G>A	c.(1150-1152)tcG>tcA	p.S384S	NRF1_uc003voz.3_Silent_p.S384S|NRF1_uc011kpa.2_Silent_p.S223S|NRF1_uc003vpb.3_Silent_p.S384S	NM_005011	NP_005002	Q16656	NRF1_HUMAN	Homo sapiens nuclear respiratory factor 1 (NRF1), transcript variant 1, mRNA.	384	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						CGGTGGCATCGTTGGCAGAGG	0.572													A	129357145	G	A	129357145	2	1	96	1	0	0	0	0	0	0	0	1	10722	1132	40	1		1	NRF1	7	129357145	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7583466	129357145	29781518	98	6336											
CPA1	1357	broad.mit.edu	37	chr7	130021608	130021608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatcgaggacgtgcagtcGctgctggacgaggagcagga	10	6	17	8	4	0	1	0	1	0	0	2	7	0	5	0	4	3	4	0	4	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:130021608G>A	uc003vpx.3	+	2	357	c.285G>A	c.(283-285)tcG>tcA	p.S95S	CPA1_uc011kpf.1_Silent_p.S7S|CPA1_uc003vpw.2_Intron	NM_001868	NP_001859	P15085	CBPA1_HUMAN	Homo sapiens carboxypeptidase A1 (pancreatic) (CPA1), mRNA.	95					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					ACGTGCAGTCGCTGCTGGACG	0.612											OREG0018314	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	130021608	G	A	130021608	2	1	96	1	0	0	0	0	0	0	0	1	3820	1074	38	1		1	CPA1	7	130021608	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	664463	130021608	29117055	99	6337											
HIPK2	28996	broad.mit.edu	37	chr7	139259877	139259877	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagctgtggggcttacctgGctgagattgagtggctgctg	5	11	16	9	0	0	2	0	2	0	1	0	3	0	2	2	4	3	5	2	4	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:139259877G>C	uc003vvf.4	-	13	3394	c.3123C>G	c.(3121-3123)agC>agG	p.S1041R	HIPK2_uc003vvd.4_Missense_Mutation_p.S1014R	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	1041	Autoinhibitory domain (AID).|Interaction with AXIN1 (By similarity).				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GGCTTACCTGGCTGAGATTGA	0.672													C	139259877	G	C	139259877	3	2	96	1	0	0	0	0	1	0	0	0	7172	1194	42	4	481	4	HIPK2	7	139259877	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	9238269	139259877	19878786	100	6338											
ZNF425	155054	broad.mit.edu	37	chr7	148815402	148815402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatctcccactcttgttcCgaaaaatataaggccacatc	13	10	6	12	1	2	0	0	0	2	0	5	2	3	1	3	2	0	1	3	2	4	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:148815402C>T	uc003wfj.3	-	1	190	c.57G>A	c.(55-57)tcG>tcA	p.S19S		NM_001001661	NP_001001661	Q6IV72	ZN425_HUMAN	Homo sapiens zinc finger protein 425 (ZNF425), mRNA.	19	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S19S(2)		breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACTCTTGTTCCGAAAAATATA	0.393													T	148815402	C	T	148815402	2	4	96	1	0	0	0	0	0	0	0	1	18000	639	23	1		1	ZNF425	7	148815402	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	9555525	148815402	10323261	101	6339											
SLC4A2	6522	broad.mit.edu	37	chr7	150771186	150771186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctcagaggtggacggcGgtgagaacatgacatgggcc	11	5	16	9	2	1	3	1	2	0	2	1	5	1	4	1	5	2	1	1	5	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:150771186G>A	uc022apz.1	+	16	3636	c.2596G>A	c.(2596-2598)Ggt>Agt	p.G866S	SLC4A2_uc003wit.4_Missense_Mutation_p.G866S|SLC4A2_uc011kve.2_Missense_Mutation_p.G857S|SLC4A2_uc003wiu.4_Missense_Mutation_p.G852S	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	866	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGTGGACGGCGGTGAGAACAT	0.677													A	150771186	G	A	150771186	3	1	96	1	0	0	0	0	1	0	0	0	14748	1116	39	1	2658	1	SLC4A2	7	150771186	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1955784	150771186	8367477	102	6340											
MLL3	58508	broad.mit.edu	37	chr7	151878185	151878185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtcctcggttttgtgCtgcttgcaggaaaggatcct	6	13	13	9	1	0	0	0	0	0	0	3	2	2	2	2	4	4	5	2	4	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:151878185C>T	uc003wla.3	-	35	6979	c.6760G>A	c.(6760-6762)Gca>Aca	p.A2254T	MLL3_uc003wkz.3_Missense_Mutation_p.A1315T	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2254	Pro-rich.				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.A2254T(3)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		CGGTTTTGTGCTGCTTGCAGG	0.527			N		medulloblastoma								T	151878185	C	T	151878185	3	4	96	1	0	0	0	0	1	0	0	0	9697	797	28	2	8071	2	MLL3	7	151878185	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1106999	151878185	7260478	103	6341											
HTR5A	3361	broad.mit.edu	37	chr7	154863298	154863298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaggctgccaagttccGcgtgggctccaggaagacca	10	6	12	13	2	0	1	0	0	0	1	2	2	2	2	4	3	2	3	4	3	4	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:154863298G>A	uc003wlu.1	+	0	753	c.689G>A	c.(688-690)cGc>cAc	p.R230H	LOC100128264_uc003wlt.2_5'Flank|LOC100128264_uc011kvt.1_5'Flank	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	230						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCAAGTTCCGCGTGGGCTCC	0.542													A	154863298	G	A	154863298	3	1	96	1	0	0	0	0	1	0	0	0	7508	1087	38	1	691	1	HTR5A	7	154863298	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2985113	154863298	4275365	104	6342											
PTPRN2	5799	broad.mit.edu	37	chr7	157370776	157370776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagcactgccggacgccGttctccgcgaggggtgtcag	5	8	16	12	5	2	0	1	0	1	0	3	2	2	1	3	4	2	3	3	4	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:157370776G>A	uc003wno.3	-	17	2674	c.2553C>T	c.(2551-2553)aaC>aaT	p.N851N	PTPRN2_uc003wnp.3_Silent_p.N834N|PTPRN2_uc003wnq.3_Silent_p.N822N|PTPRN2_uc003wnr.3_Silent_p.N813N|PTPRN2_uc011kwa.2_Silent_p.N874N	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	851	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCGGACGCCGTTCTCCGCGA	0.622													A	157370776	G	A	157370776	2	1	96	1	0	0	0	0	0	0	0	1	12896	1136	40	1		1	PTPRN2	7	157370776	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2507478	157370776	1767887	105	6343											
VIPR2	7434	broad.mit.edu	37	chr7	158896531	158896531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatccgtcactcgtacagtTtttgcttatgtttcctggaa	7	16	7	11	2	1	0	1	0	0	0	4	1	3	1	3	1	2	4	3	1	3	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr7:158896531T>C	uc003woh.3	-	3	460	c.274A>G	c.(274-276)Aac>Gac	p.N92D	VIPR2_uc010lqx.3_Non-coding_Transcript|VIPR2_uc010lqy.3_Non-coding_Transcript	NM_003382	NP_003373	P41587	VIPR2_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 2 (VIPR2), mRNA.	92					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		CTCGTACAGTTTTTGCTTATG	0.512													C	158896531	T	C	158896531	3	2	96	1	0	0	0	0	1	0	0	0	17272	1841	64	3	1082	3	VIPR2	7	158896531	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	1525755	158896531	242132	106	6344											
KIAA1429	25962	broad.mit.edu	37	chr8	95521969	95521969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atattcaacacactgttggcGaataacactgtctccaggag	13	10	8	10	1	2	0	1	0	1	0	3	2	2	1	1	2	2	1	1	2	4	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:95521969G>A	uc003ygo.2	-	14	3897	c.3826C>T	c.(3826-3828)Cgc>Tgc	p.R1276C	KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	1276					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CACTGTTGGCGAATAACACTG	0.373													A	95521969	G	A	95521969	3	1	96	1	0	0	0	0	1	0	0	0	8289	1058	37	1	1652	1	KIAA1429	8	95521969	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		95521969	50842053	107	6345											
TG	7038	broad.mit.edu	37	chr8	133880437	133880437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaagcaagcagactacGtgccccagtgtgcagaggat	11	8	12	10	1	1	3	0	1	1	2	1	4	1	4	2	1	5	3	2	1	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:133880437G>A	uc003ytw.3	+	1	186	c.145G>A	c.(145-147)Gtg>Atg	p.V49M		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	49	Thyroglobulin type-1 1.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAGACTACGTGCCCCAGTG	0.532													A	133880437	G	A	133880437	3	1	96	1	0	0	0	0	1	0	0	0	15913	1145	40	1	151	1	TG	8	133880437	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	38358468	133880437	12483585	108	6346											
ZNF623	9831	broad.mit.edu	37	chr8	144732159	144732159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacgtcagacagactcacGgtgatggagctcccctctcc	9	7	10	15	3	3	3	2	1	1	2	5	5	4	4	3	2	1	1	3	2	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr8:144732159G>A	uc003yzd.2	+	0	206	c.117G>A	c.(115-117)acG>acA	p.T39T	ZNF623_uc011lkp.1_5'UTR|ZNF623_uc003yzc.2_5'UTR	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	39					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T39T(2)		endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACAGACTCACGGTGATGGAGC	0.522													A	144732159	G	A	144732159	2	1	96	1	0	0	0	0	0	0	0	1	18148	1103	39	1		1	ZNF623	8	144732159	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10851722	144732159	1631863	109	6347											
KIAA2026	158358	broad.mit.edu	37	chr9	5988438	5988438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcaagcctgccaaacttCgcggtgttgaccgacgcctt	7	11	10	13	4	1	1	1	1	0	0	2	2	1	1	4	1	3	1	4	1	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:5988438C>T	uc003zjq.4	-	1	917	c.701G>A	c.(700-702)cGa>cAa	p.R234Q		NM_001017969	NP_001017969	Q5HYC2	K2026_HUMAN	Homo sapiens KIAA2026 (KIAA2026), mRNA.	234								p.R234Q(1)		breast(6)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(1)	46		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00155)|Lung(218;0.124)		TGCCAAACTTCGCGGTGTTGA	0.423													T	5988438	C	T	5988438	3	4	96	1	0	0	0	0	1	0	0	0	8328	884	31	1	5638	1	KIAA2026	9	5988438	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		5988438	135224993	110	6348											
ACER2	340485	broad.mit.edu	37	chr9	19423911	19423911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctgcatgtgcttgtttCgtcagtatgcaacatgcttc	7	15	8	11	1	2	0	1	0	1	0	4	0	2	0	1	0	5	6	1	0	2	4	rs145427232		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:19423911C>T	uc003zny.1	+	1	318	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	ACER2_uc003znx.1_Non-coding_Transcript|ACER2_uc003znz.1_Missense_Mutation_p.R5C	NM_001010887	NP_001010887	Q5QJU3	ACER2_HUMAN	Homo sapiens alkaline ceramidase 2 (ACER2), mRNA.	54					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity	p.R54C(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						GTGCTTGTTTCGTCAGTATGC	0.398													T	19423911	C	T	19423911	3	4	96	1	0	0	0	0	1	0	0	0	139	884	31	1	166	1	ACER2	9	19423911	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	13435473	19423911	121789520	111	6349											
CCIN	881	broad.mit.edu	37	chr9	36169599	36169599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggacatggccctgagtGtggacaaccacgtcttcttt	8	11	11	11	1	2	1	0	1	2	0	2	3	2	3	2	3	1	0	2	3	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:36169599G>A	uc003zzb.4	+	0	211	c.100G>A	c.(100-102)Gtg>Atg	p.V34M		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	34	BTB.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGCCCTGAGTGTGGACAACCA	0.502													A	36169599	G	A	36169599	3	1	96	1	0	0	0	0	1	0	0	0	2906	1377	48	2	102	2	CCIN	9	36169599	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16745688	36169599	105043832	112	6350											
SVEP1	79987	broad.mit.edu	37	chr9	113228166	113228166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatgcagaaatgttcaCggctcctcttttcacagttg	9	13	7	12	1	3	1	2	0	1	1	5	1	5	1	2	1	1	4	2	1	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:113228166C>T	uc010mtz.3	-	17	3638	c.3301G>A	c.(3301-3303)Gtg>Atg	p.V1101M	SVEP1_uc010mua.1_Missense_Mutation_p.V1101M	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	1101					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAATGTTCACGGCTCCTCTT	0.438													T	113228166	C	T	113228166	3	4	96	1	0	0	0	0	1	0	0	0	15516	536	19	1	7538	1	SVEP1	9	113228166	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	77058567	113228166	27985265	113	6351											
COL27A1	85301	broad.mit.edu	37	chr9	116994128	116994128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcagcgtgggggagccCggactgaaaggtgataaggt	10	6	19	6	2	0	2	0	2	0	0	0	4	0	4	1	6	2	1	1	6	2	1	rs144760825		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:116994128C>T	uc011lxl.2	+	15	2547	c.2547C>T	c.(2545-2547)ccC>ccT	p.P849P	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	849	Collagen-like 4.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGGGGGAGCCCGGACTGAAAG	0.577													T	116994128	C	T	116994128	2	4	96	1	0	0	0	0	0	0	0	1	3716	639	23	1		1	COL27A1	9	116994128	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	3765962	116994128	24219303	114	6352											
DAB2IP	153090	broad.mit.edu	37	chr9	124528842	124528842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcagtcgcggccgcccGgacatcagtgagcggctcat	7	6	14	14	5	2	1	2	1	0	0	3	2	2	2	2	3	3	3	2	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:124528842G>A	uc004bln.3	+	8	1515	c.1446G>A	c.(1444-1446)ccG>ccA	p.P482P	DAB2IP_uc004blo.3_Silent_p.P386P|DAB2IP_uc004blp.3_5'Flank	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	510	Ras-GAP.			I -> T (in Ref. 1; AAM00371).	activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity	p.A481T(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGGCCGCCCGGACATCAGTG	0.617													A	124528842	G	A	124528842	2	1	96	1	0	0	0	0	0	0	0	1	4253	1103	39	1		1	DAB2IP	9	124528842	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7534714	124528842	16684589	115	6353											
RC3H2	54542	broad.mit.edu	37	chr9	125617558	125617558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgggaagatctggaaatcGcaccccattttgagatgatg	12	10	11	8	2	1	3	0	2	1	2	2	6	1	5	2	2	1	1	2	2	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125617558G>A	uc010mwc.1	-	14	2961	c.2720C>T	c.(2719-2721)gCg>gTg	p.A907V	RC3H2_uc004bnc.2_Non-coding_Transcript|RC3H2_uc004bnd.1_Missense_Mutation_p.A907V|RC3H2_uc004bne.4_Missense_Mutation_p.A907V	NM_001100588	NP_001094058	Q9HBD1	RC3H2_HUMAN	Homo sapiens ring finger and CCCH-type domains 2 (RC3H2), transcript variant 1, mRNA.	907						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TCTGGAAATCGCACCCCATTT	0.443													A	125617558	G	A	125617558	3	1	96	1	0	0	0	0	1	0	0	0	13255	1087	38	1	961	1	RC3H2	9	125617558	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1088716	125617558	15595873	116	6354											
STRBP	55342	broad.mit.edu	37	chr9	125922701	125922701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacaaatcacgcagaatgCggaggacaattacacatgat	16	7	9	9	2	1	2	1	1	0	1	1	4	1	4	0	2	3	2	0	2	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:125922701C>T	uc004bns.3	-	7	1110	c.668G>A	c.(667-669)cGc>cAc	p.R223H	STRBP_uc004bnt.3_Missense_Mutation_p.R41H|STRBP_uc004bnu.3_Missense_Mutation_p.R209H|STRBP_uc004bnv.3_Missense_Mutation_p.R223H	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	223	DZF.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						ACGCAGAATGCGGAGGACAAT	0.393													T	125922701	C	T	125922701	3	4	96	1	0	0	0	0	1	0	0	0	15423	768	27	1	1398	1	STRBP	9	125922701	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	305143	125922701	15290730	117	6355											
NTNG2	84628	broad.mit.edu	37	chr9	135073844	135073844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggacaacctctacacGcggctggagagcgccaaggg	12	4	13	12	3	1	1	0	0	1	1	1	3	1	2	2	4	4	1	2	4	4	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:135073844G>A	uc004cbh.2	+	2	1481	c.705G>A	c.(703-705)acG>acA	p.T235T		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	235	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		ACCTCTACACGCGGCTGGAGA	0.677													A	135073844	G	A	135073844	2	1	96	1	0	0	0	0	0	0	0	1	10781	1074	38	1		1	NTNG2	9	135073844	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	9151143	135073844	6139587	118	6356											
SEC16A	9919	broad.mit.edu	37	chr9	139350207	139350207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgccaggacactgctgCgggagggctccatcctgatg	7	7	16	11	1	0	1	0	1	0	0	2	4	2	4	3	4	3	2	3	4	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:139350207C>T	uc004chx.3	-	19	6012	c.5703G>A	c.(5701-5703)ccG>ccA	p.P1901P	SEC16A_uc004chs.3_5'Flank|SEC16A_uc004cht.3_5'Flank|SEC16A_uc004chu.3_Silent_p.P86P|SEC16A_uc004chv.4_Silent_p.P1291P|SEC16A_uc004chw.3_Silent_p.P1901P|SEC16A_uc010nbn.3_Silent_p.P1901P	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	1723	Pro-rich.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GACACTGCTGCGGGAGGGCTC	0.667													T	139350207	C	T	139350207	2	4	96	1	0	0	0	0	0	0	0	1	14079	755	27	1		1	SEC16A	9	139350207	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	4276363	139350207	1863224	119	6357											
SLC34A3	142680	broad.mit.edu	37	chr9	140128881	140128881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacagacttccccttcccGctgggctggctcggcggcta	4	8	11	18	3	0	1	0	0	0	1	3	1	2	1	4	4	0	4	4	4	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140128881G>A	uc022bqf.1	+	10	1328	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	SLC34A3_uc011met.2_Silent_p.P369P|SLC34A3_uc004cmf.1_Silent_p.P369P	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	369					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCCCTTCCCGCTGGGCTGGC	0.716													A	140128881	G	A	140128881	2	1	96	1	0	0	0	0	0	0	0	1	14663	1074	38	1		1	SLC34A3	9	140128881	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	778674	140128881	1084550	120	6358											
PNPLA7	375775	broad.mit.edu	37	chr9	140356687	140356687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagctgtcgatgggggggcGcaggtactcgcagtagtcac	7	8	17	9	3	1	0	1	0	0	0	3	1	1	0	0	4	2	6	0	4	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140356687G>A	uc010ncj.1	-	30	3926	c.3589C>T	c.(3589-3591)Cgc>Tgc	p.R1197C	PNPLA7_uc004cnd.1_Missense_Mutation_p.R419C|PNPLA7_uc004cne.1_Missense_Mutation_p.R438C|PNPLA7_uc011mfa.1_Missense_Mutation_p.R580C|PNPLA7_uc004cnf.2_Missense_Mutation_p.R1172C|NELF_uc004cna.3_5'Flank|NELF_uc004cnb.3_5'Flank|NELF_uc004cmz.3_5'Flank|NELF_uc011mez.2_5'Flank|NELF_uc004cnc.3_5'Flank|NELF_uc022bqi.1_5'Flank	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	1172					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		ATGGGGGGGCGCAGGTACTCG	0.647													A	140356687	G	A	140356687	3	1	96	1	0	0	0	0	1	0	0	0	12247	1087	38	1	459	1	PNPLA7	9	140356687	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	227806	140356687	856744	121	6359											
PNPLA7	375775	broad.mit.edu	37	chr9	140361890	140361890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggatgccgcactccGccaaggccttgagaacgccc	9	4	11	17	3	0	1	0	1	0	1	1	3	1	2	6	2	2	1	6	2	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr9:140361890G>A	uc010ncj.1	-	25	3255	c.2918C>T	c.(2917-2919)gCg>gTg	p.A973V	PNPLA7_uc004cnd.1_Missense_Mutation_p.A214V|PNPLA7_uc004cne.1_Missense_Mutation_p.A214V|PNPLA7_uc011mfa.1_Missense_Mutation_p.A356V|PNPLA7_uc004cnf.2_Missense_Mutation_p.A948V	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	948	Patatin.				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCCGCACTCCGCCAAGGCCTT	0.652													A	140361890	G	A	140361890	3	1	96	1	0	0	0	0	1	0	0	0	12247	1087	38	1	1150	1	PNPLA7	9	140361890	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	5203	140361890	851541	122	6360											
MYO3A	53904	broad.mit.edu	37	chr10	26243811	26243811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaaactaggatattgaCgaagagattgaagcagaata	17	11	10	3	1	0	5	0	3	0	2	0	8	0	6	0	1	2	1	0	1	7	7	rs139958275	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:26243811C>T	uc001isn.2	+	3	537	c.177C>T	c.(175-177)gaC>gaT	p.D59D	MYO3A_uc009xko.1_Silent_p.D59D|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Silent_p.D59D|MYO3A_uc001ism.2_Silent_p.D59D	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	59	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGGATATTGACGAAGAGATTG	0.313													T	26243811	C	T	26243811	2	4	96	1	0	0	0	0	0	0	0	1	10152	535	19	1		1	MYO3A	10	26243811	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		26243811	109290936	123	6361											
HNRNPH3	3189	broad.mit.edu	37	chr10	70097039	70097039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgggacagtacgacttCgtggactaccatttggttgc	8	12	13	8	2	0	1	0	1	0	0	1	4	0	3	1	3	3	2	1	3	2	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:70097039C>T	uc001jnw.4	+	1	290	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C	HNRNPH3_uc001jnx.4_Missense_Mutation_p.R21C|HNRNPH3_uc009xpu.3_5'UTR|HNRNPH3_uc010qiv.2_Missense_Mutation_p.R21C|HNRNPH3_uc001jny.4_5'Flank	NM_012207	NP_036339	P31942	HNRH3_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein H3 (2H9) (HNRNPH3), transcript variant 2H9, mRNA.	21	RRM 1.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)	11						AGTACGACTTCGTGGACTACC	0.338													T	70097039	C	T	70097039	3	4	96	1	0	0	0	0	1	0	0	0	7323	884	31	1	63	1	HNRNPH3	10	70097039	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	43853228	70097039	65437708	124	6362											
RGR	5995	broad.mit.edu	37	chr10	86008738	86008738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagggctttgtgacagcGttggccagcatctgcagcag	7	10	13	11	1	1	1	0	1	1	0	2	1	2	1	2	2	4	5	2	2	0	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:86008738G>A	uc001kdd.1	+	2	347	c.309G>A	c.(307-309)gcG>gcA	p.A103A	RGR_uc001kdb.1_Missense_Mutation_p.V87I|RGR_uc001kdc.1_Silent_p.A99A|RGR_uc001kde.1_Silent_p.A99A	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	99					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding	p.A103A(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						TTGTGACAGCGTTGGCCAGCA	0.637													A	86008738	G	A	86008738	2	1	96	1	0	0	0	0	0	0	0	1	13380	1132	40	1		1	RGR	10	86008738	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	15911699	86008738	49526009	125	6363											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	96	1	0	0	0	0	0	1	0	0	12823	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3708934	89717672	45817075	126	6364											
PLCE1	51196	broad.mit.edu	37	chr10	95995711	95995711	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaagataatttcttacaaCgagtgggacaaaatggctta	16	10	9	6	1	1	1	0	0	1	1	1	4	1	2	0	2	2	1	0	2	7	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:95995711C>T	uc001kjk.3	+	6	2888	c.2254C>T	c.(2254-2256)Cga>Tga	p.R752*	PLCE1_uc010qnx.2_Nonsense_Mutation_p.R752*|PLCE1_uc001kjm.3_Nonsense_Mutation_p.R444*	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	752	Ras-GEF.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTTCTTACAACGAGTGGGACA	0.408													T	95995711	C	T	95995711	4	4	96	1	0	0	0	0	0	1	0	0	12111	528	19	1	2562	1	PLCE1	10	95995711	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6278039	95995711	39539036	127	6365											
SORCS1	114815	broad.mit.edu	37	chr10	108923845	108923845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgggtggctttgtccGggtcccgctcccgagtccca	4	8	15	14	4	0	0	0	0	0	0	4	2	4	1	4	4	1	2	4	4	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:108923845G>T	uc001kyl.3	-	0	622	c.440C>A	c.(439-441)cCg>cAg	p.P147Q	SORCS1_uc021pxw.1_Missense_Mutation_p.P147Q|SORCS1_uc009xxs.3_Missense_Mutation_p.P147Q|SORCS1_uc001kym.3_Missense_Mutation_p.P147Q|SORCS1_uc001kyn.2_Missense_Mutation_p.P147Q|SORCS1_uc001kyo.3_Missense_Mutation_p.P147Q	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	147						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GGCTTTGTCCGGGTCCCGCTC	0.652													T	108923845	G	T	108923845	3	4	96	1	0	0	0	0	1	0	0	0	15024	1116	39	4	3404	4	SORCS1	10	108923845	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	12928134	108923845	26610902	128	6366											
SEC23IP	11196	broad.mit.edu	37	chr10	121663608	121663608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagttcagccagatcCggagagcgtggttcttggca	7	12	12	10	2	3	2	1	0	2	2	5	3	4	2	2	3	2	3	2	3	1	5	rs147722288	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:121663608C>T	uc001leu.2	+	3	1130	c.920C>T	c.(919-921)cCg>cTg	p.P307L	SEC23IP_uc010qtc.2_Missense_Mutation_p.P96L	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	307	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		CAGCCAGATCCGGAGAGCGTG	0.488													T	121663608	C	T	121663608	3	4	96	1	0	0	0	0	1	0	0	0	14086	652	23	1	934	1	SEC23IP	10	121663608	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	12739763	121663608	13871139	129	6367											
CPXM2	119587	broad.mit.edu	37	chr10	125506288	125506288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaggagggtcacccacGctgtcgtctcttctgccccc	4	8	11	18	2	3	0	1	0	2	0	5	1	3	1	4	3	1	1	4	3	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125506288G>A	uc001lhk.1	-	13	2588	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	755					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GGTCACCCACGCTGTCGTCTC	0.577													A	125506288	G	A	125506288	3	1	96	1	0	0	0	0	1	0	0	0	3869	1087	38	1	11	1	CPXM2	10	125506288	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3842680	125506288	10028459	130	6368											
CPXM2	119587	broad.mit.edu	37	chr10	125622179	125622179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccatagcgcttcaccGtggaggcatggagctggaag	9	6	15	11	2	1	0	1	0	0	0	1	3	1	3	3	5	2	3	3	5	2	2	rs146535848		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr10:125622179G>A	uc001lhk.1	-	2	789	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CPXM2_uc001lhj.3_Non-coding_Transcript	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	155	F5/8 type C.				cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GCGCTTCACCGTGGAGGCATG	0.507													A	125622179	G	A	125622179	3	1	96	1	0	0	0	0	1	0	0	0	3869	1145	40	1	1854	1	CPXM2	10	125622179	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	115891	125622179	9912568	131	6369											
MRGPRE	116534	broad.mit.edu	37	chr11	3249728	3249728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcagaagaagcgcagcGttgccaggctggtctgcacg	9	7	15	10	3	1	2	0	0	1	2	1	2	1	2	1	2	5	6	1	2	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:3249728G>A	uc021qcj.1	-	0	299	c.299C>T	c.(298-300)aCg>aTg	p.T100M	MRGPRE_uc001lxq.4_Missense_Mutation_p.T100M	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	100						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T100M(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGCGCAGCGTTGCCAGGCT	0.662													A	3249728	G	A	3249728	3	1	96	1	0	0	0	0	1	0	0	0	9840	1145	40	1	640	1	MRGPRE	11	3249728	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		3249728	131756788	132	6370											
SOX6	55553	broad.mit.edu	37	chr11	16036504	16036504	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccctctgcatcttctggCcgagtaaggtcgatgacacc	8	10	9	14	2	4	1	1	1	3	0	5	3	4	1	3	2	1	2	3	2	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16036504C>T	uc001mme.3	-	12	1788	c.1755G>A	c.(1753-1755)cgG>cgA	p.R585R	SOX6_uc001mmd.3_Silent_p.R548R|SOX6_uc001mmf.3_Silent_p.R545R|SOX6_uc001mmg.3_Silent_p.R572R	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	572					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						CATCTTCTGGCCGAGTAAGGT	0.463													T	16036504	C	T	16036504	2	4	96	1	0	0	0	0	0	0	0	1	15049	726	26	2		2	SOX6	11	16036504	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	12786776	16036504	118970012	133	6371											
PLEKHA7	144100	broad.mit.edu	37	chr11	16847767	16847767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggtcctgggaggaaaggCccgctggtacccaccagtcc	7	7	14	13	1	0	0	0	0	0	0	2	2	2	2	5	5	1	3	5	5	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:16847767C>T	uc010rcu.1	-	9	1258	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	PLEKHA7_uc001mmo.3_Missense_Mutation_p.A415T|PLEKHA7_uc001mmn.3_Missense_Mutation_p.A123T	NM_175058	NP_778228	Q6IQ23	PKHA7_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 7 (PLEKHA7), mRNA.	415					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GGAGGAAAGGCCCGCTGGTAC	0.592													T	16847767	C	T	16847767	3	4	96	1	0	0	0	0	1	0	0	0	12138	739	26	2	2178	2	PLEKHA7	11	16847767	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	811263	16847767	118158749	134	6372											
NELL1	4745	broad.mit.edu	37	chr11	20959373	20959373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttcttgcagaaggccagCggattttaaccaagagctgt	12	10	11	8	1	1	2	0	0	1	2	1	3	1	3	2	2	4	3	2	2	4	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:20959373C>T	uc009yid.3	+	10	1276	c.1123C>T	c.(1123-1125)Cgg>Tgg	p.R375W	NELL1_uc010rdp.2_Missense_Mutation_p.R107W|NELL1_uc001mqe.3_Missense_Mutation_p.R347W|NELL1_uc001mqf.3_Missense_Mutation_p.R347W|NELL1_uc010rdo.2_Missense_Mutation_p.R290W	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	347	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGAAGGCCAGCGGATTTTAAC	0.408													T	20959373	C	T	20959373	3	4	96	1	0	0	0	0	1	0	0	0	10409	759	27	1	1077	1	NELL1	11	20959373	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4111606	20959373	114047143	135	6373											
GYLTL1B	120071	broad.mit.edu	37	chr11	45950278	45950278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccagccccacctatcGtgactgcctccaggccctca	6	7	7	21	2	1	1	1	1	0	0	4	1	3	1	8	1	2	1	8	1	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:45950278G>A	uc001nbv.1	+	13	2159	c.2048G>A	c.(2047-2049)cGt>cAt	p.R683H	GYLTL1B_uc001nbw.1_Missense_Mutation_p.R652H|GYLTL1B_uc001nbx.1_Missense_Mutation_p.R683H	NM_152312	NP_689525	Q8N3Y3	LARG2_HUMAN	Homo sapiens glycosyltransferase-like 1B (GYLTL1B), mRNA.	683					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CCCACCTATCGTGACTGCCTC	0.637													A	45950278	G	A	45950278	3	1	96	1	0	0	0	0	1	0	0	0	6962	1145	40	1	2098	1	GYLTL1B	11	45950278	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	24990905	45950278	89056238	136	6374											
CHRM4	1132	broad.mit.edu	37	chr11	46406690	46406690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcagtgccgatgttcCgatactggcacagcagcagg	9	7	13	12	2	0	0	0	0	0	0	1	2	1	0	3	3	4	5	3	3	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:46406690C>T	uc001nct.1	-	0	1418	c.1418G>A	c.(1417-1419)cGg>cAg	p.R473Q		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	473					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity	p.R473R(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	GCCGATGTTCCGATACTGGCA	0.602													T	46406690	C	T	46406690	3	4	96	1	0	0	0	0	1	0	0	0	3409	652	23	1	25	1	CHRM4	11	46406690	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	456412	46406690	88599826	137	6375											
P2RX3	5024	broad.mit.edu	37	chr11	57137380	57137380	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagactacgctgaaaatCgcggctttgaccaacccagt	13	8	9	11	3	0	3	0	3	0	1	1	4	0	3	2	1	2	2	2	1	5	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:57137380C>A	uc001nju.3	+	11	1288	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_002559	NP_002550	P56373	P2RX3_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 3 (P2RX3), mRNA.	368					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity	p.I368M(2)		endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						CGCTGAAAATCGCGGCTTTGA	0.547													A	57137380	C	A	57137380	2	1	96	1	0	0	0	0	0	0	0	1	11417	874	31	4		4	P2RX3	11	57137380	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	10730690	57137380	77869136	138	6376											
RASGRP2	10235	broad.mit.edu	37	chr11	64496457	64496457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcacactctgggccctgCgccgacactcaactgacagg	8	6	11	16	2	3	1	2	1	1	0	3	2	3	1	2	3	2	1	2	3	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:64496457C>T	uc009ypu.3	-	14	1876	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	RASGRP2_uc001oat.3_Missense_Mutation_p.R452H|RASGRP2_uc001oau.3_Missense_Mutation_p.R405H|RASGRP2_uc009ypv.3_Missense_Mutation_p.R550H|RASGRP2_uc009ypw.3_Missense_Mutation_p.R550H	NM_001098671	NP_722541	Q7LDG7	GRP2_HUMAN	Homo sapiens RAS guanyl releasing protein 2 (calcium and DAG-regulated) (RASGRP2), transcript variant 4, mRNA.	550					platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTGGGCCCTGCGCCGACACTC	0.637													T	64496457	C	T	64496457	3	4	96	1	0	0	0	0	1	0	0	0	13163	768	27	1	188	1	RASGRP2	11	64496457	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7359077	64496457	70510059	139	6377											
INPPL1	3636	broad.mit.edu	37	chr11	71942122	71942123	+	Frame_Shift_Ins	INS	-	-	C																															acgaggtcacagtgaccataINSccccatgacatctatgtctt																										TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71942122_71942123insC	uc001osf.3	+	11	1533_1534	c.1386_1387insC	c.(1384-1389)atacccfs	p.I462fs	INPPL1_uc001osg.3_Frame_Shift_Ins_p.I220fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	462					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGACCATACCCCATGACAT	0.579													C	71942123	-	C	71942122	7	5	96	1	0	1	1	0	0	0	0	0	7819	381	14	0	1432	0	INPPL1	11	71942122	Frame_Shift_Ins	INS	-	TCGA-06-5858-01A-01D-1696-08	7445665	71942122	63064394	140	6378											
INPPL1	3636	broad.mit.edu	37	chr11	71943788	71943788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggggacctcaactacCgcctggacatggatatccag	9	9	12	11	1	1	0	1	0	0	0	2	3	2	3	4	5	2	1	4	5	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:71943788C>T	uc001osf.3	+	14	1978	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	INPPL1_uc001osg.3_Missense_Mutation_p.R369C	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	611					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCTCAACTACCGCCTGGACAT	0.612													T	71943788	C	T	71943788	3	4	96	1	0	0	0	0	1	0	0	0	7819	652	23	1	1889	1	INPPL1	11	71943788	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1666	71943788	63062728	141	6379											
ATG16L2	89849	broad.mit.edu	37	chr11	72528883	72528883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaggaggggctcCggctggtctgtggtgaggta	7	7	22	5	1	1	1	0	1	1	0	2	5	2	5	1	10	0	3	1	10	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:72528883C>T	uc001otd.3	+	2	341	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	ATG16L2_uc001otc.1_Missense_Mutation_p.R101W|ATG16L2_uc010rrf.1_Missense_Mutation_p.R101W|ATG16L2_uc001ote.3_5'UTR|ATG16L2_uc009ytj.2_Missense_Mutation_p.R101W	NM_033388	NP_203746	Q8NAA4	A16L2_HUMAN	Homo sapiens ATG16 autophagy related 16-like 2 (S. cerevisiae) (ATG16L2), mRNA.	101					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGAGGGGCTCCGGCTGGTCTG	0.577													T	72528883	C	T	72528883	3	4	96	1	0	0	0	0	1	0	0	0	1097	643	23	1	311	1	ATG16L2	11	72528883	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	585095	72528883	62477633	142	6380											
RNF26	79102	broad.mit.edu	37	chr11	119206097	119206097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgtgtactctgctgtatAgctgctgctctggcctagag	5	14	11	11	0	2	1	0	0	2	1	2	1	2	1	2	1	5	6	2	1	4	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:119206097A>G	uc001pwh.3	+	0	888	c.265A>G	c.(265-267)Agc>Ggc	p.S89G		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	89	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		TCTGCTGTATAGCTGCTGCTC	0.607													G	119206097	A	G	119206097	3	3	96	1	0	0	0	0	1	0	0	0	13577	420	15	3	267	3	RNF26	11	119206097	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	46677214	119206097	15800419	143	6381											
TMEM136	219902	broad.mit.edu	37	chr11	120201174	120201174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcttggagaagcaggCggagtgaggaacggcagctg	11	5	17	8	2	0	2	0	1	0	1	0	5	0	4	1	5	4	4	1	5	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:120201174C>T	uc001pxj.3	+	2	1248	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	TMEM136_uc001pxg.3_Missense_Mutation_p.R133W|TMEM136_uc010rzm.2_Missense_Mutation_p.R111W|TMEM136_uc021qrl.1_Missense_Mutation_p.R129W|TMEM136_uc001pxh.2_Missense_Mutation_p.R230W|TMEM136_uc009zas.2_Missense_Mutation_p.R129W|TMEM136_uc001pxi.2_Missense_Mutation_p.R129W	NM_001198670	NP_001185599	Q6ZRR5	TM136_HUMAN	Homo sapiens transmembrane protein 136 (TMEM136), transcript variant 1, mRNA.	230						integral to membrane				endometrium(1)|lung(2)|ovary(1)	4		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Hepatocellular(160;0.206)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.07e-06)		GAGAAGCAGGCGGAGTGAGGA	0.493													T	120201174	C	T	120201174	3	4	96	1	0	0	0	0	1	0	0	0	16152	759	27	1	407	1	TMEM136	11	120201174	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	995077	120201174	14805342	144	6382											
FOXRED1	55572	broad.mit.edu	37	chr11	126143242	126143242	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacacaggagtacctggcCgtagtcgatgctcctcccct	7	9	10	15	2	0	0	0	0	0	0	3	2	2	1	5	2	3	4	5	2	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:126143242C>T	uc001qdi.3	+	3	596	c.429C>T	c.(427-429)gcC>gcT	p.A143A	FOXRED1_uc010sbn.2_5'UTR|FOXRED1_uc010sbq.2_Missense_Mutation_p.R12C|FOXRED1_uc010sbo.2_Non-coding_Transcript|FOXRED1_uc010sbp.2_5'UTR|FOXRED1_uc010sbr.2_Silent_p.A129A|FOXRED1_uc001qdk.3_5'UTR	NM_017547	NP_060017	Q96CU9	FXRD1_HUMAN	Homo sapiens FAD-dependent oxidoreductase domain containing 1 (FOXRED1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		AGTACCTGGCCGTAGTCGATG	0.557													T	126143242	C	T	126143242	2	4	96	1	0	0	0	0	0	0	0	1	6084	639	23	1		1	FOXRED1	11	126143242	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	5942068	126143242	8863274	145	6383											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343095	130343095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgggcatttcgtggtgtcGgcggtggagcgggacctggt	5	9	19	8	5	0	0	0	0	0	0	2	2	0	2	1	7	2	1	1	7	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr11:130343095G>A	uc010scd.2	+	7	2232	c.2232G>A	c.(2230-2232)tcG>tcA	p.S744S		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	744	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		TCGTGGTGTCGGCGGTGGAGC	0.642													A	130343095	G	A	130343095	2	1	96	1	0	0	0	0	0	0	0	1	260	1103	39	1		1	ADAMTS15	11	130343095	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	4199853	130343095	4663421	146	6384											
WBP11	51729	broad.mit.edu	37	chr12	14946750	14946750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctccatctgatttgtcGgtgtcactgtcatcagtact	6	17	7	11	1	5	1	3	1	2	0	7	1	5	1	1	1	1	1	1	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:14946750G>A	uc001rci.3	-	7	989	c.828C>T	c.(826-828)acC>acT	p.T276T		NM_016312	NP_057396	Q9Y2W2	WBP11_HUMAN	Homo sapiens WW domain binding protein 11 (WBP11), mRNA.	276	Asp-rich.				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						CTGATTTGTCGGTGTCACTGT	0.433													A	14946750	G	A	14946750	2	1	96	1	0	0	0	0	0	0	0	1	17360	1103	39	1		1	WBP11	12	14946750	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08		14946750	118905145	147	6385											
TXNRD1	7296	broad.mit.edu	37	chr12	104714974	104714974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggtattggtttagaCgtcactgttatggttaggtc	6	17	12	6	1	1	1	1	0	0	1	2	1	1	1	0	4	1	5	0	4	4	7			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:104714974C>T	uc021rcx.1	+	9	1117	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	TXNRD1_uc021rcy.1_Silent_p.D267D|TXNRD1_uc021rcz.1_Silent_p.D215D|TXNRD1_uc021rda.1_Silent_p.D215D|TXNRD1_uc021rdb.1_Silent_p.D215D|TXNRD1_uc010swp.2_Silent_p.D177D|TXNRD1_uc010swq.2_Silent_p.D265D|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.D281D	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	365			D -> G (in dbSNP:rs1127954).	D -> N (in Ref. 3; AAC69621).	cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						TTGGTTTAGACGTCACTGTTA	0.448													T	104714974	C	T	104714974	2	4	96	1	0	0	0	0	0	0	0	1	16909	535	19	1		1	TXNRD1	12	104714974	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	89768224	104714974	29136921	148	6386											
ULK1	8408	broad.mit.edu	37	chr12	132397780	132397780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccagtgccaaacccccGccagacagcctgatgtgcag	9	4	11	17	2	0	2	0	1	0	1	0	2	0	2	6	0	4	1	6	0	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr12:132397780G>A	uc001uje.3	+	13	1402	c.1134G>A	c.(1132-1134)ccG>ccA	p.P378P		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	378	Interaction with GABARAP and GABARAPL2.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		CCAAACCCCCGCCAGACAGCC	0.622													A	132397780	G	A	132397780	2	1	96	1	0	0	0	0	0	0	0	1	17077	1074	38	1		1	ULK1	12	132397780	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	27682806	132397780	1454115	149	6387											
TPTE2	93492	broad.mit.edu	37	chr13	20067042	20067042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttaaattcacttgtgtgtgGgctagaggatgataaaagaa	14	13	11	3	0	1	3	1	1	0	2	1	4	1	4	0	2	0	1	0	2	6	6			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:20067042G>A	uc001umd.3	-	4	277	c.66_splice	c.e4-1	p.S22_splice	TPTE2_uc009zzk.3_Splice_Site|TPTE2_uc009zzl.3_Splice_Site_p.S22_splice|TPTE2_uc001ume.3_Splice_Site_p.S22_splice|TPTE2_uc009zzm.3_Splice_Site|TPTE2_uc010tcm.2_Splice_Site	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	22						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.P23S(2)		NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CTTGTGTGTGGGCTAGAGGAT	0.353													A	20067042	G	A	20067042	3	1	96	1	0	0	0	0	1	0	0	0	16532	1246	43	2	1573	2	TPTE2	13	20067042	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		20067042	95102836	150	6388											
PARP4	143	broad.mit.edu	37	chr13	25023906	25023906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaatattcaaatactcCggcaccacactgggacaaaa	18	8	5	10	1	1	0	1	0	0	0	2	1	2	1	2	2	1	1	2	2	7	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:25023906C>T	uc001upl.3	-	24	3170	c.3064G>A	c.(3064-3066)Gga>Aga	p.G1022R		NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	1022	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity	p.G1022*(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCAAATACTCCGGCACCACAC	0.308													T	25023906	C	T	25023906	3	4	96	1	0	0	0	0	1	0	0	0	11539	661	23	1	2150	1	PARP4	13	25023906	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4956864	25023906	90145972	151	6389											
STARD13	90627	broad.mit.edu	37	chr13	33704214	33704214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgctgcctccactgctttcGctgtgaatggagcagacctc	6	11	10	14	2	0	2	0	1	0	1	4	3	1	3	3	1	3	4	3	1	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:33704214G>A	uc001uuw.3	-	4	726	c.600C>T	c.(598-600)agC>agT	p.S200S	STARD13_uc001uuu.3_Silent_p.S192S|STARD13_uc001uuv.3_Silent_p.S82S|STARD13_uc001uux.3_Silent_p.S165S|STARD13_uc010abh.1_Silent_p.S185S|STARD13_uc021rhz.1_Silent_p.S192S|STARD13_uc021ria.1_Silent_p.S82S	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	200					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CACTGCTTTCGCTGTGAATGG	0.627													A	33704214	G	A	33704214	2	1	96	1	0	0	0	0	0	0	0	1	15352	1078	38	1		1	STARD13	13	33704214	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	8680308	33704214	81465664	152	6390											
RB1	5925	broad.mit.edu	37	chr13	48947629	48947629	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgatttcctattttaacGtaagccatatatgaaacatt	14	16	4	7	1	1	2	0	2	1	0	2	2	2	2	2	0	3	1	2	0	6	8			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:48947629G>A	uc001vcb.3	+	12	1381	c.1215_splice	c.e12+1	p.N405_splice	RB1_uc010act.1_Splice_Site_p.N106_splice	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	405	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.?(23)|p.0?(15)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CTATTTTAACGTAAGCCATAT	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	48947629	G	A	48947629	5	1	96	1	0	0	0	0	0	0	1	0	13186	1159	40	1	1262	1	RB1	13	48947629	Splice_Site	SNP	G	TCGA-06-5858-01A-01D-1696-08	15243415	48947629	66222249	153	6391											
TGDS	23483	broad.mit.edu	37	chr13	95233375	95233375	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagtaagactgtacaaaAcattcagcagctgctttaga	14	10	7	10	0	1	2	1	0	0	2	2	2	2	2	1	0	5	5	1	0	5	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95233375A>C	uc001vlw.3	-	5	646	c.525T>G	c.(523-525)tgT>tgG	p.C175W		NM_014305	NP_055120	O95455	TGDS_HUMAN	Homo sapiens TDP-glucose 4,6-dehydratase (TGDS), mRNA.	175					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTGTACAAAACATTCAGCAG	0.318													C	95233375	A	C	95233375	3	2	96	1	0	0	0	0	1	0	0	0	15914	41	2	5	555	5	TGDS	13	95233375	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	46285746	95233375	19936503	154	6392											
ABCC4	10257	broad.mit.edu	37	chr13	95673860	95673860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcgaaaatagttaaggtcGagggctgtccattggaagtg	11	11	13	6	2	1	0	0	0	1	0	4	3	2	1	1	3	0	2	1	3	5	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:95673860G>A	uc001vmd.4	-	30	4066	c.3947C>T	c.(3946-3948)tCg>tTg	p.S1316L	ABCC4_uc010afj.3_Missense_Mutation_p.S107L|ABCC4_uc010afk.3_Missense_Mutation_p.S1269L	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1316					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	AGTTAAGGTCGAGGGCTGTCC	0.383													A	95673860	G	A	95673860	3	1	96	1	0	0	0	0	1	0	0	0	55	1059	37	1	34	1	ABCC4	13	95673860	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	440485	95673860	19496018	155	6393											
COL4A2	1284	broad.mit.edu	37	chr13	111088642	111088642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagggcagccgggacccaaCgggattccatcagacaccct	10	5	12	14	2	1	1	1	0	0	1	2	3	2	3	4	3	2	2	4	3	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111088642C>T	uc001vqx.3	+	12	1042	c.753C>T	c.(751-753)aaC>aaT	p.N251N		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	251	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CGGGACCCAACGGGATTCCAT	0.463													T	111088642	C	T	111088642	2	4	96	1	0	0	0	0	0	0	0	1	3721	535	19	1		1	COL4A2	13	111088642	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	15414782	111088642	4081236	156	6394											
ING1	3621	broad.mit.edu	37	chr13	111371669	111371669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcactgtgtgcagcgcgCgctgatccgcagccaggagc	6	6	15	14	4	0	1	0	1	0	0	1	2	1	2	2	1	5	5	2	1	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111371669C>T	uc001vri.3	+	1	1091	c.659C>T	c.(658-660)gCg>gTg	p.A220V	ING1_uc001vrf.3_Missense_Mutation_p.A33V|ING1_uc001vrg.3_Missense_Mutation_p.A8V|ING1_uc001vrh.3_Missense_Mutation_p.A77V|ING1_uc021rmo.1_Missense_Mutation_p.A8V	NM_005537	NP_005528	Q9UK53	ING1_HUMAN	Homo sapiens inhibitor of growth family, member 1 (ING1), transcript variant 4, mRNA.	220					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GTGCAGCGCGCGCTGATCCGC	0.652													T	111371669	C	T	111371669	3	4	96	1	0	0	0	0	1	0	0	0	7793	768	27	1	813	1	ING1	13	111371669	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	283027	111371669	3798209	157	6395											
ARHGEF7	8874	broad.mit.edu	37	chr13	111870210	111870210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccagcaactacgtgcGcgaggtcaaggccagcggta	9	6	13	13	4	1	0	1	0	0	0	2	1	2	0	3	3	5	3	3	3	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr13:111870210G>A	uc001vrs.2	+	5	966	c.716G>A	c.(715-717)cGc>cAc	p.R239H	ARHGEF7_uc001vrr.2_Missense_Mutation_p.R218H|ARHGEF7_uc001vrt.2_Missense_Mutation_p.R189H|ARHGEF7_uc010tjn.1_Non-coding_Transcript|ARHGEF7_uc001vrv.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrw.4_Missense_Mutation_p.R61H|ARHGEF7_uc001vrx.4_Missense_Mutation_p.R61H|ARHGEF7_uc010tjo.2_Missense_Mutation_p.R136H	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	239	SH3.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			AACTACGTGCGCGAGGTCAAG	0.567													A	111870210	G	A	111870210	3	1	96	1	0	0	0	0	1	0	0	0	914	1087	38	1	738	1	ARHGEF7	13	111870210	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	498541	111870210	3299668	158	6396											
BMP4	652	broad.mit.edu	37	chr14	54418835	54418835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtggccctgaatctcggCgacttttttcttccccgtct	3	14	9	15	5	3	1	0	1	3	0	5	2	4	1	3	2	0	0	3	2	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:54418835C>T	uc001xal.4	-	1	293	c.106G>A	c.(106-108)Gcc>Acc	p.A36T	BMP4_uc010aoh.3_Missense_Mutation_p.A36T|BMP4_uc001xao.4_Missense_Mutation_p.A36T|BMP4_uc001xan.4_Missense_Mutation_p.A36T	NM_130851	NP_570912	P12644	BMP4_HUMAN	Homo sapiens bone morphogenetic protein 4 (BMP4), transcript variant 3, mRNA.	36					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGAATCTCGGCGACTTTTTTC	0.582													T	54418835	C	T	54418835	3	4	96	1	0	0	0	0	1	0	0	0	1468	768	27	1	1128	1	BMP4	14	54418835	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		54418835	52930705	159	6397											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208866	65208866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgaggggcgcagcccGgcccacctggcccgggagct	5	3	15	18	3	0	1	0	1	0	0	0	2	0	2	5	5	2	2	5	5	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:65208866G>A	uc001xhp.2	+	15	3033	c.2994G>A	c.(2992-2994)ccG>ccA	p.P998P	PLEKHG3_uc001xhn.1_Silent_p.P821P|PLEKHG3_uc001xho.1_Silent_p.P877P|PLEKHG3_uc010aqh.1_Silent_p.P419P|PLEKHG3_uc001xhq.1_Silent_p.P382P	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	877					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCGCAGCCCGGCCCACCTGG	0.667													A	65208866	G	A	65208866	2	1	96	1	0	0	0	0	0	0	0	1	12147	1103	39	1		1	PLEKHG3	14	65208866	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10790031	65208866	42140674	160	6398											
ADCK1	57143	broad.mit.edu	37	chr14	78390916	78390916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccggcacgggaaaggcGgagattgtcctgttggacca	9	6	14	12	3	0	1	0	0	0	1	1	4	1	3	4	5	0	2	4	5	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:78390916G>A	uc001xui.3	+	7	1074	c.975G>A	c.(973-975)gcG>gcA	p.A325A	ADCK1_uc010tvo.1_Non-coding_Transcript|ADCK1_uc001xuj.3_Silent_p.A257A|ADCK1_uc001xuk.1_Silent_p.A199A|ADCK1_uc001xul.3_Silent_p.A32A	NM_020421	NP_065154	Q86TW2	ADCK1_HUMAN	Homo sapiens aarF domain containing kinase 1 (ADCK1), transcript variant 1, mRNA.	332	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		CGGGAAAGGCGGAGATTGTCC	0.557													A	78390916	G	A	78390916	2	1	96	1	0	0	0	0	0	0	0	1	288	1103	39	1		1	ADCK1	14	78390916	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	13182050	78390916	28958624	161	6399											
EML5	161436	broad.mit.edu	37	chr14	89160659	89160659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactttcttacctgctttaCgccaaaatttcatgtgttta	9	17	5	10	1	2	0	1	0	1	0	2	0	2	0	2	0	3	3	2	0	5	7			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:89160659C>T	uc021ryf.1	-	16	2780	c.2531G>A	c.(2530-2532)cGt>cAt	p.R844H	EML5_uc021ryg.1_Missense_Mutation_p.R844H|EML5_uc001xxh.1_Missense_Mutation_p.R21H	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	844						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ACCTGCTTTACGCCAAAATTT	0.323													T	89160659	C	T	89160659	3	4	96	1	0	0	0	0	1	0	0	0	5141	536	19	1	3510	1	EML5	14	89160659	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	10769743	89160659	18188881	162	6400											
RIN3	79890	broad.mit.edu	37	chr14	93119291	93119291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctggagatgatggcgCgccagacctccagcacggag	10	4	14	13	3	0	3	0	1	0	2	1	5	1	4	4	3	2	1	4	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:93119291C>T	uc001yap.3	+	5	2049	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	RIN3_uc010auk.3_Missense_Mutation_p.R295C|RIN3_uc001yaq.3_Missense_Mutation_p.R558C|RIN3_uc001yar.1_Missense_Mutation_p.R295C|RIN3_uc001yas.1_Missense_Mutation_p.R295C	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	633	Interaction with RAB5B.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding	p.R633C(2)|p.A632V(1)		endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GATGATGGCGCGCCAGACCTC	0.597													T	93119291	C	T	93119291	3	4	96	1	0	0	0	0	1	0	0	0	13464	768	27	1	1919	1	RIN3	14	93119291	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3958632	93119291	14230249	163	6401											
SERPINA5	5104	broad.mit.edu	37	chr14	95058444	95058444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgggaaccagagcagcGgcagccacggggacaatatt	12	4	15	10	3	0	1	0	0	0	1	1	4	0	3	2	4	4	2	2	4	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95058444G>A	uc001ydm.2	+	5	1299	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	SERPINA3_uc001ydo.4_5'UTR	NM_000624	NP_000615	P05154	IPSP_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 (SERPINA5), mRNA.	363					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	CCAGAGCAGCGGCAGCCACGG	0.567													A	95058444	G	A	95058444	2	1	96	1	0	0	0	0	0	0	0	1	14185	1103	39	1		1	SERPINA5	14	95058444	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1939153	95058444	12291096	164	6402											
C14orf49	161176	broad.mit.edu	37	chr14	95922000	95922000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgttccgaatgacacccGcagactgctcctccagcgtc	8	8	10	15	3	0	2	0	1	0	1	4	3	3	2	4	1	2	3	4	1	1	1	rs143391386		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:95922000G>A	uc001yei.4	-	4	866	c.851C>T	c.(850-852)gCg>gTg	p.A284V	C14orf49_uc010avi.3_Missense_Mutation_p.A284V|C14orf49_uc001yej.1_Missense_Mutation_p.A284V	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	284					cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		AATGACACCCGCAGACTGCTC	0.567													A	95922000	G	A	95922000	3	1	96	1	0	0	0	0	1	0	0	0	1789	1087	38	1	2128	1	C14orf49	14	95922000	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	863556	95922000	11427540	165	6403											
CDC42BPB	9578	broad.mit.edu	37	chr14	103412980	103412980	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttctgtcagaatgagcagCgagctggtcttagaaggtgc	9	12	13	7	1	3	3	1	1	2	2	3	4	3	3	0	2	4	2	0	2	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr14:103412980C>T	uc001ymi.1	-	27	3805	c.3573G>A	c.(3571-3573)tcG>tcA	p.S1191S	CDC42BPB_uc001ymj.1_Silent_p.S293S	NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	1191	PH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GAATGAGCAGCGAGCTGGTCT	0.488													T	103412980	C	T	103412980	2	4	96	1	0	0	0	0	0	0	0	1	3103	755	27	1		1	CDC42BPB	14	103412980	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	7490980	103412980	3936560	166	6404											
HERC2	8924	broad.mit.edu	37	chr15	28421858	28421858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggtcagagccagggtctgCgcgtctctactcccacatgc	6	9	11	15	3	3	1	1	0	2	1	6	1	4	1	2	2	4	0	2	2	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:28421858C>T	uc001zbj.3	-	61	9595	c.9489G>A	c.(9487-9489)gcG>gcA	p.A3163A		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3163					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCAGGGTCTGCGCGTCTCTAC	0.493													T	28421858	C	T	28421858	2	4	96	1	0	0	0	0	0	0	0	1	7113	755	27	1		1	HERC2	15	28421858	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		28421858	74109534	167	6405											
SPTBN5	51332	broad.mit.edu	37	chr15	42151139	42151139	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggagctcctccaggcgAtggcggcgggtcccggcttg	3	7	17	14	5	0	0	0	0	0	0	3	2	3	1	4	6	2	2	4	6	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:42151139A>G	uc001zos.3	-	47	8256	c.7923T>C	c.(7921-7923)caT>caC	p.H2641H		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2676					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CCTCCAGGCGATGGCGGCGGG	0.706													G	42151139	A	G	42151139	2	3	96	1	0	0	0	0	0	0	0	1	15218	330	12	3		3	SPTBN5	15	42151139	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	13729281	42151139	60380253	168	6406											
SLC27A2	11001	broad.mit.edu	37	chr15	50528151	50528151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggaacttttaaacaccGcaaaatgaccctggtggagg	13	8	10	10	1	0	1	0	1	0	0	0	3	0	3	2	4	2	1	2	4	5	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:50528151G>A	uc001zxw.3	+	9	1953	c.1721G>A	c.(1720-1722)cGc>cAc	p.R574H	SLC27A2_uc010bes.3_Missense_Mutation_p.R521H|SLC27A2_uc001zxx.3_Missense_Mutation_p.R339H	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	574					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TTTAAACACCGCAAAATGACC	0.418													A	50528151	G	A	50528151	3	1	96	1	0	0	0	0	1	0	0	0	14620	1087	38	1	1759	1	SLC27A2	15	50528151	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	8377012	50528151	52003241	169	6407											
ARID3B	10620	broad.mit.edu	37	chr15	74888087	74888087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccggggcacccccagcgCagagccctccaccagctggt	7	4	11	19	2	0	1	0	0	0	1	2	1	2	1	6	3	3	3	6	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:74888087C>T	uc002aye.3	+	8	1859	c.1658C>T	c.(1657-1659)gCa>gTa	p.A553V	ARID3B_uc002ayd.3_Missense_Mutation_p.A552V|CLK3_uc002ayf.1_5'Flank	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	553	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						ACCCCCAGCGCAGAGCCCTCC	0.617													T	74888087	C	T	74888087	3	4	96	1	0	0	0	0	1	0	0	0	920	710	25	2	1685	2	ARID3B	15	74888087	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	24359936	74888087	27643305	170	6408											
COMMD4	54939	broad.mit.edu	37	chr15	75631625	75631625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgcggccagcctgtgcCgctgttatgaggagaagcaa	10	6	14	11	3	0	2	0	1	0	1	0	3	0	2	3	2	4	4	3	2	3	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75631625C>T	uc002azy.3	+	5	379	c.322C>T	c.(322-324)Cgc>Tgc	p.R108C	COMMD4_uc010umf.1_3'UTR|COMMD4_uc002azz.3_Silent_p.A90A|COMMD4_uc002baa.3_Missense_Mutation_p.R108C|COMMD4_uc010umg.2_3'UTR	NM_017828	NP_060298	Q9H0A8	COMD4_HUMAN	Homo sapiens COMM domain containing 4 (COMMD4), mRNA.	108						cytoplasm	protein binding	p.R108C(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CAGCCTGTGCCGCTGTTATGA	0.612													T	75631625	C	T	75631625	3	4	96	1	0	0	0	0	1	0	0	0	3749	652	23	1	344	1	COMMD4	15	75631625	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	743538	75631625	26899767	171	6409											
SIN3A	25942	broad.mit.edu	37	chr15	75722661	75722661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtgctgccagggatcCgacgctgctgggctgcatac	5	9	13	14	2	1	0	0	0	1	0	2	2	2	1	3	2	5	5	3	2	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:75722661C>T	uc002bai.3	-	1	315	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	SIN3A_uc002baj.3_Missense_Mutation_p.R19Q|SIN3A_uc010uml.2_Missense_Mutation_p.R19Q|SIN3A_uc002bak.4_Missense_Mutation_p.R19Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	19					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GCCAGGGATCCGACGCTGCTG	0.577													T	75722661	C	T	75722661	3	4	96	1	0	0	0	0	1	0	0	0	14419	652	23	1	3845	1	SIN3A	15	75722661	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	91036	75722661	26808731	172	6410											
WDR61	80349	broad.mit.edu	37	chr15	78578420	78578420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcaggacagaatgcaaCgttcagcacccaggaggcat	13	6	11	11	1	3	1	3	0	0	1	3	3	3	3	1	3	3	4	1	3	2	1	rs148690647	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:78578420C>T	uc002bdn.3	-	8	788	c.712G>A	c.(712-714)Gtt>Att	p.V238I	WDR61_uc002bdo.3_Missense_Mutation_p.V238I	NM_025234	NP_079510	Q9GZS3	WDR61_HUMAN	Homo sapiens WD repeat domain 61 (WDR61), mRNA.	238							protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						CAGAATGCAACGTTCAGCACC	0.433													T	78578420	C	T	78578420	3	4	96	1	0	0	0	0	1	0	0	0	17414	536	19	1	217	1	WDR61	15	78578420	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2855759	78578420	23952972	173	6411											
MESDC1	59274	broad.mit.edu	37	chr15	81295114	81295114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagggttgcgccgtgctgCgcgccacgccgctggccgac	4	5	16	16	7	0	0	0	0	0	0	0	1	0	0	4	2	4	4	4	2	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:81295114C>T	uc002bfz.3	+	0	1820	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_022566	NP_072088	Q9H1K6	MESD1_HUMAN	Homo sapiens mesoderm development candidate 1 (MESDC1), mRNA.	168										endometrium(1)|lung(2)	3						CGCCGTGCTGCGCGCCACGCC	0.746													T	81295114	C	T	81295114	3	4	96	1	0	0	0	0	1	0	0	0	9555	768	27	1	504	1	MESDC1	15	81295114	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2716694	81295114	21236278	174	6412											
WDR73	84942	broad.mit.edu	37	chr15	85189474	85189474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagacttcggagcctcGccccatggaggactccgggt	6	7	13	15	3	0	1	0	0	0	1	3	4	1	4	5	4	2	1	5	4	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:85189474G>A	uc002bkw.2	-	5	474	c.458C>T	c.(457-459)gCg>gTg	p.A153V	WDR73_uc002bkv.2_Non-coding_Transcript|WDR73_uc002bkx.2_Non-coding_Transcript|WDR73_uc010upa.1_Missense_Mutation_p.A153V|AL357213_uc002bky.1_3'UTR	NM_032856	NP_116245	Q6P4I2	WDR73_HUMAN	Homo sapiens WD repeat domain 73 (WDR73), mRNA.	153										cervix(1)|large_intestine(1)|lung(1)	3						TCGGAGCCTCGCCCCATGGAG	0.582													A	85189474	G	A	85189474	3	1	96	1	0	0	0	0	1	0	0	0	17425	1087	38	1	690	1	WDR73	15	85189474	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	3894360	85189474	17341918	175	6413											
LRRK1	79705	broad.mit.edu	37	chr15	101567914	101567914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcagccgggacgacgaCgtgcagtacctgacggacag	9	3	15	14	7	0	1	0	1	0	0	0	5	0	3	3	2	3	3	3	2	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr15:101567914C>T	uc002bwr.3	+	18	2917	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	866					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGACGACGACGTGCAGTACC	0.667													T	101567914	C	T	101567914	2	4	96	1	0	0	0	0	0	0	0	1	9102	535	19	1		1	LRRK1	15	101567914	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	16378440	101567914	963478	176	6414											
HS3ST2	9956	broad.mit.edu	37	chr16	22926622	22926622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcgactcatcactgacccGgccggcgagatggggcgagt	8	5	16	12	5	2	2	2	1	0	1	2	6	2	2	2	4	1	0	2	4	0	0	rs148264643		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:22926622G>A	uc002dli.3	+	1	915	c.843G>A	c.(841-843)ccG>ccA	p.P281P		NM_006043	NP_006034	Q9Y278	HS3S2_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 2 (HS3ST2), mRNA.	281						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 2 activity			breast(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(2)|skin(1)	19				GBM - Glioblastoma multiforme(48;0.0299)		TCACTGACCCGGCCGGCGAGA	0.552													A	22926622	G	A	22926622	2	1	96	1	0	0	0	0	0	0	0	1	7419	1103	39	1		1	HS3ST2	16	22926622	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08		22926622	67428131	177	6415											
C16orf54	283897	broad.mit.edu	37	chr16	29756241	29756241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggggggcccctccacgCgcccagagggcggctctgga	5	4	17	15	4	1	1	0	0	1	1	2	2	2	2	4	6	1	1	4	6	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:29756241C>T	uc002dtp.2	-	1	141	c.32G>A	c.(31-33)cGc>cAc	p.R11H	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	11						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCCCTCCACGCGCCCAGAGGG	0.652													T	29756241	C	T	29756241	3	4	96	1	0	0	0	0	1	0	0	0	1833	768	27	1	646	1	C16orf54	16	29756241	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6829619	29756241	60598512	178	6416											
ZNF689	115509	broad.mit.edu	37	chr16	30616193	30616193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgagggccgtgcgctggcGgaagcggcggttgcactcga	6	5	19	11	7	0	0	0	0	0	0	1	4	0	1	1	5	3	3	1	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30616193G>A	uc002dyx.3	-	2	1215	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	ZNF689_uc010bzy.3_5'UTR	NM_138447	NP_612456	Q96CS4	ZN689_HUMAN	Homo sapiens zinc finger protein 689 (ZNF689), mRNA.	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GTGCGCTGGCGGAAGCGGCGG	0.672													A	30616193	G	A	30616193	3	1	96	1	0	0	0	0	1	0	0	0	18195	1116	39	1	611	1	ZNF689	16	30616193	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	859952	30616193	59738560	179	6417											
FBXL19	54620	broad.mit.edu	37	chr16	30958480	30958480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacccgaagcttgtgccCggctggcagctgccgggccc	4	7	13	17	3	1	0	1	0	1	0	2	1	1	0	4	3	4	4	4	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:30958480C>T	uc002eab.2	+	10	2172	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	FBXL19_uc002dzz.1_Missense_Mutation_p.R360W|FBXL19_uc002eaa.1_Missense_Mutation_p.R571W|ORAI3_uc002eac.3_5'Flank	NM_001099784	NP_001093254	Q6PCT2	FXL19_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 19 (FBXL19), mRNA.	672							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGCTTGTGCCCGGCTGGCAGC	0.711													T	30958480	C	T	30958480	3	4	96	1	0	0	0	0	1	0	0	0	5764	643	23	1	2056	1	FBXL19	16	30958480	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	342287	30958480	59396273	180	6418											
CCDC102A	92922	broad.mit.edu	37	chr16	57546730	57546730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcctcggtgccaaagcGagcactgcggatcttcccga	7	7	12	15	4	1	0	0	0	1	0	4	3	3	1	4	3	4	1	4	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:57546730G>A	uc002elw.3	-	8	1789	c.1576C>T	c.(1576-1578)Cgc>Tgc	p.R526C		NM_033212	NP_149989	Q96A19	C102A_HUMAN	Homo sapiens coiled-coil domain containing 102A (CCDC102A), mRNA.	526										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GTGCCAAAGCGAGCACTGCGG	0.637													A	57546730	G	A	57546730	3	1	96	1	0	0	0	0	1	0	0	0	2762	1058	37	1	80	1	CCDC102A	16	57546730	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	26588250	57546730	32808023	181	6419											
FAM65A	79567	broad.mit.edu	37	chr16	67578997	67578997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgcctctccctgcGccagccaggcttggctgagg	3	8	14	16	2	1	1	0	1	1	0	2	1	1	1	5	4	3	2	5	4	0	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:67578997G>A	uc010vjp.2	+	16	3254	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	FAM65A_uc002eth.3_Missense_Mutation_p.R1003H|FAM65A_uc010cej.3_Missense_Mutation_p.R1007H|FAM65A_uc010vjq.2_Missense_Mutation_p.R1017H|FAM65A_uc002etk.3_Missense_Mutation_p.R1001H	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	1007						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CTCTCCCTGCGCCAGCCAGGC	0.627													A	67578997	G	A	67578997	3	1	96	1	0	0	0	0	1	0	0	0	5649	1087	38	1	3070	1	FAM65A	16	67578997	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	10032267	67578997	22775756	182	6420											
PKD1L2	114780	broad.mit.edu	37	chr16	81236192	81236192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgactgggacaggccGgagcatgcagtcacactgag	9	6	14	12	1	1	2	1	2	0	0	2	4	2	4	2	3	2	3	2	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:81236192G>A	uc002fgh.1	-	5	1056	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PKD1L2_uc002fgj.3_Silent_p.S352S	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	352					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGGACAGGCCGGAGCATGCAG	0.582													A	81236192	G	A	81236192	2	1	96	1	0	0	0	0	0	0	0	1	12042	1103	39	1		1	PKD1L2	16	81236192	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	13657195	81236192	9118561	183	6421											
SLC7A5	8140	broad.mit.edu	37	chr16	87873310	87873310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggtagcggctcaccaCggccacggcctcggacgaca	7	4	15	15	6	1	0	1	0	0	0	2	2	1	1	3	6	1	2	3	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr16:87873310C>T	uc002fkm.3	-	4	1009	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_003486	NP_003477	Q01650	LAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 5 (SLC7A5), mRNA.	313					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		CGGCTCACCACGGCCACGGCC	0.662													T	87873310	C	T	87873310	3	4	96	1	0	0	0	0	1	0	0	0	14794	536	19	1	610	1	SLC7A5	16	87873310	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	6637118	87873310	2481443	184	6422											
RPA1	6117	broad.mit.edu	37	chr17	1780602	1780602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctagaactggttgaCgaaagtgtgagtgtttgtca	9	14	11	7	1	2	3	1	2	1	1	3	4	2	3	1	1	1	2	1	1	3	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:1780602C>T	uc002fto.2	+	7	799	c.684C>T	c.(682-684)gaC>gaT	p.D228D		NM_002945	NP_002936	P27694	RFA1_HUMAN	Homo sapiens replication protein A1, 70kDa (RPA1), mRNA.	228					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AACTGGTTGACGAAAGTGTGA	0.562								Nucleotide excision repair (NER)					T	1780602	C	T	1780602	2	4	96	1	0	0	0	0	0	0	0	1	13627	535	19	1		1	RPA1	17	1780602	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08		1780602	79414608	185	6423											
PLD2	5338	broad.mit.edu	37	chr17	4713214	4713214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgctgtacatgtgcctCgagacaggtgccatctcatt	7	13	9	12	1	1	1	1	0	1	1	4	2	2	1	3	1	4	2	3	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:4713214C>T	uc002fzc.3	+	8	876	c.750C>T	c.(748-750)ctC>ctT	p.L250L	PLD2_uc010vsj.2_Silent_p.L107L|PLD2_uc002fzd.3_Silent_p.L250L	NM_002663	NP_002654	O14939	PLD2_HUMAN	Homo sapiens phospholipase D2 (PLD2), transcript variant 1, mRNA.	250	PH.				cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	ACATGTGCCTCGAGACAGGTG	0.562													T	4713214	C	T	4713214	2	4	96	1	0	0	0	0	0	0	0	1	12123	871	31	1		1	PLD2	17	4713214	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2932612	4713214	76481996	186	6424											
WSCD1	23302	broad.mit.edu	37	chr17	6023636	6023636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcactctagagtggccGgactttgtcaacagctacgc	8	10	10	13	2	3	1	2	0	1	1	4	2	4	2	2	2	3	1	2	2	3	3	rs146617432		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:6023636G>A	uc010cli.3	+	8	1762	c.1383G>A	c.(1381-1383)ccG>ccA	p.P461P	WSCD1_uc002gcn.3_Silent_p.P461P|WSCD1_uc002gco.3_Silent_p.P461P|WSCD1_uc010clj.3_Silent_p.P152P	NM_015253	NP_056068	Q658N2	WSCD1_HUMAN	Homo sapiens WSC domain containing 1 (WSCD1), mRNA.	461						integral to membrane	sulfotransferase activity	p.P461P(2)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)	35						TAGAGTGGCCGGACTTTGTCA	0.672													A	6023636	G	A	6023636	2	1	96	1	0	0	0	0	0	0	0	1	17508	1103	39	1		1	WSCD1	17	6023636	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1310422	6023636	75171574	187	6425											
DLG4	1742	broad.mit.edu	37	chr17	7097030	7097030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcagaaccgagtcttctCgacctggtgggaggtggggc	7	8	16	10	2	3	1	1	0	2	1	4	4	3	2	2	5	2	1	2	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7097030C>T	uc010vtn.2	-	13	1627	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.R513Q|DLG4_uc002get.4_Missense_Mutation_p.R559Q|DLG4_uc010vto.2_Missense_Mutation_p.R556Q	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	516	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding	p.R559Q(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGAGTCTTCTCGACCTGGTGG	0.612													T	7097030	C	T	7097030	3	4	96	1	0	0	0	0	1	0	0	0	4596	884	31	1	651	1	DLG4	17	7097030	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1073394	7097030	74098180	188	6426											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	96	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	481376	7578406	73616804	189	6427											
KDM6B	23135	broad.mit.edu	37	chr17	7752152	7752152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggtgctaccgccctgcCgcccacctcagcggccccta	6	6	9	20	3	2	0	2	0	0	0	2	0	2	0	7	2	4	1	7	2	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:7752152C>T	uc002gix.3	+	0	1289	c.452C>T	c.(451-453)cCg>cTg	p.P151L	KDM6B_uc002giw.1_Missense_Mutation_p.P849L	NM_001080424	NP_001073893	O15054	KDM6B_HUMAN	Homo sapiens lysine (K)-specific demethylase 6B (KDM6B), mRNA.	849					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						ACCGCCCTGCCGCCCACCTCA	0.687													T	7752152	C	T	7752152	3	4	96	1	0	0	0	0	1	0	0	0	8196	652	23	1	2576	1	KDM6B	17	7752152	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	173746	7752152	73443058	190	6428											
NOS2	4843	broad.mit.edu	37	chr17	26116655	26116655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctccacgaggggctgcGgggactcattctgctgcttg	4	10	14	13	3	3	0	1	0	2	0	4	2	3	1	2	4	3	3	2	4	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:26116655G>A	uc002gzu.3	-	2	434	c.170C>T	c.(169-171)cCg>cTg	p.P57L	NOS2_uc010crh.1_Missense_Mutation_p.P57L|NOS2_uc010wab.1_Missense_Mutation_p.P57L	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	57					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	GAGGGGCTGCGGGGACTCATT	0.552													A	26116655	G	A	26116655	3	1	96	1	0	0	0	0	1	0	0	0	10619	1116	39	1	3391	1	NOS2	17	26116655	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	18364503	26116655	55078555	191	6429											
SRCIN1	80725	broad.mit.edu	37	chr17	36704805	36704805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctacctctagctctgcGatgatgcgatcctcgtcatc	7	12	8	14	3	3	2	1	2	2	0	6	4	4	2	3	0	4	1	3	0	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:36704805G>A	uc002hqd.3	-	16	3483	c.3258C>T	c.(3256-3258)atC>atT	p.I1086I	SRCIN1_uc002hqf.1_Silent_p.I958I|SRCIN1_uc002hqe.2_Silent_p.I940I	NM_025248	NP_079524	Q9C0H9	SRCN1_HUMAN	Homo sapiens SRC kinase signaling inhibitor 1 (SRCIN1), mRNA.	958					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						CTAGCTCTGCGATGATGCGAT	0.667													A	36704805	G	A	36704805	2	1	96	1	0	0	0	0	0	0	0	1	15232	1048	37	1		1	SRCIN1	17	36704805	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	10588150	36704805	44490405	192	6430											
BRCA1	672	broad.mit.edu	37	chr17	41243940	41243940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaatttcttggcccctcttCggtaaccctgagccaaatgt	8	13	7	13	1	2	1	0	1	2	0	3	1	2	1	4	2	2	1	4	2	3	5	rs55930959		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:41243940C>T	uc002icq.3	-	9	3840	c.3608G>A	c.(3607-3609)cGa>cAa	p.R1203Q	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R1132Q|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R1156Q|BRCA1_uc002ict.3_Missense_Mutation_p.R1203Q|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R1203Q|BRCA1_uc002ide.1_Missense_Mutation_p.R1034Q|BRCA1_uc010cyy.1_Missense_Mutation_p.R1203Q|BRCA1_uc010whs.1_Missense_Mutation_p.R1203Q|BRCA1_uc010cyz.2_Missense_Mutation_p.R1156Q|BRCA1_uc010cza.2_Missense_Mutation_p.R1177Q|BRCA1_uc010wht.1_Missense_Mutation_p.R907Q	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	1203					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GGCCCCTCTTCGGTAACCCTG	0.433			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T	41243940	C	T	41243940	3	4	96	1	0	0	0	0	1	0	0	0	1507	884	31	1	2109	1	BRCA1	17	41243940	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	4539135	41243940	39951270	193	6431											
MYCBPAP	84073	broad.mit.edu	37	chr17	48597088	48597088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccaagacaaaaactcagCgtggcctcatggagcccatc	13	6	9	13	1	2	2	2	1	0	1	3	3	2	3	3	2	3	0	3	2	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:48597088C>T	uc010wmr.2	+	6	1147	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	MYCBPAP_uc002iqz.3_Non-coding_Transcript	NM_032133	NP_115509	Q8TBZ2	MYBPP_HUMAN	Homo sapiens MYCBP associated protein (MYCBPAP), mRNA.	292					cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			AAAAACTCAGCGTGGCCTCAT	0.562													T	48597088	C	T	48597088	3	4	96	1	0	0	0	0	1	0	0	0	10095	768	27	1	1011	1	MYCBPAP	17	48597088	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7353148	48597088	32598122	194	6432											
AP1S2	653653	broad.mit.edu	37	chr17	58179869	58179869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaaacaatcttcagatctCgccactcaaggaagctgcac	13	9	7	12	1	4	1	2	0	2	1	5	2	4	2	1	1	3	3	1	1	5	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:58179869C>T	uc010wot.1	-	0	412	c.296G>A	c.(295-297)cGa>cAa	p.R99Q		NM_003916	NP_003907	P56377	AP1S2_HUMAN	Homo sapiens adaptor-related protein complex 1, sigma 2 subunit (AP1S2), mRNA.	52					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	AP-type membrane coat adaptor complex|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein transporter activity			large_intestine(1)	1	Hepatocellular(33;0.183)					CTTCAGATCTCGCCACTCAAG	0.388													T	58179869	C	T	58179869	3	4	96	1	0	0	0	0	1	0	0	0	739	899	31	1		1	AP1S2	17	58179869	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	9582781	58179869	23015341	195	6433											
AMZ2	51321	broad.mit.edu	37	chr17	66246475	66246475	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagtgatctctttggAcccattaccttgcattctcc	7	13	6	15	0	2	1	0	1	2	0	4	2	2	2	5	1	3	1	5	1	1	4	rs138991707		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:66246475A>G	uc002jgt.1	+	2	292	c.147A>G	c.(145-147)ggA>ggG	p.G49G	AMZ2_uc002jgs.1_Silent_p.G49G|AMZ2_uc002jgr.1_Silent_p.G49G|AMZ2_uc002jgu.1_Silent_p.G49G|AMZ2_uc002jgv.1_Silent_p.G49G|AMZ2_uc002jgw.1_Silent_p.G49G|AMZ2_uc002jgx.1_Silent_p.G49G|AMZ2_uc002jgy.1_Silent_p.G49G	NM_001033570	NP_057711	Q86W34	AMZ2_HUMAN	Homo sapiens archaelysin family metallopeptidase 2 (AMZ2), transcript variant 3, mRNA.	49							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATCTCTTTGGACCCATTACCT	0.458													G	66246475	A	G	66246475	2	3	96	1	0	0	0	0	0	0	0	1	597	262	10	3		3	AMZ2	17	66246475	Silent	SNP	A	TCGA-06-5858-01A-01D-1696-08	8066606	66246475	14948735	196	6434											
QRICH2	84074	broad.mit.edu	37	chr17	74287140	74287140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttctccaagtcggtttggCcggcctgctcctcatccaga	5	12	9	15	2	3	1	1	0	2	1	7	1	5	1	5	3	1	2	5	3	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74287140C>T	uc002jrd.1	-	3	3350	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	QRICH2_uc010dgw.1_Intron	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1057							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						GTCGGTTTGGCCGGCCTGCTC	0.532													T	74287140	C	T	74287140	3	4	96	1	0	0	0	0	1	0	0	0	12968	739	26	2	1885	2	QRICH2	17	74287140	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8040665	74287140	6908070	197	6435											
UBE2O	63893	broad.mit.edu	37	chr17	74395033	74395033	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatcctgccacatcacGtcggctgaggtcatcgtggt	7	9	12	13	3	2	1	2	1	0	0	5	2	3	1	3	3	2	1	3	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:74395033G>A	uc002jrm.4	-	9	1733	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	UBE2O_uc002jrn.4_Silent_p.D556D|UBE2O_uc002jrl.4_Silent_p.D159D	NM_022066	NP_071349	Q9C0C9	UBE2O_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2O (UBE2O), mRNA.	556							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						GCCACATCACGTCGGCTGAGG	0.627													A	74395033	G	A	74395033	2	1	96	1	0	0	0	0	0	0	0	1	16970	1136	40	1		1	UBE2O	17	74395033	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	107893	74395033	6800177	198	6436											
AATK	9625	broad.mit.edu	37	chr17	79094804	79094804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgagggaggtggagagccGtgtctcgggcccggggccct	5	6	19	11	3	1	2	0	1	1	1	2	4	1	3	3	6	1	0	3	6	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79094804G>A	uc010dia.3	-	10	3012	c.2932C>T	c.(2932-2934)Cgg>Tgg	p.R978W	AATK_uc010dhz.3_Intron|AATK_uc021ueu.1_Missense_Mutation_p.R875W	NM_001080395	NP_001073864	Q6ZMQ8	LMTK1_HUMAN	Homo sapiens apoptosis-associated tyrosine kinase (AATK), transcript variant 1, mRNA.	978						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GTGGAGAGCCGTGTCTCGGGC	0.652													A	79094804	G	A	79094804	3	1	96	1	0	0	0	0	1	0	0	0	26	1144	40	1	1208	1	AATK	17	79094804	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	4699771	79094804	2100406	199	6437											
NPLOC4	55666	broad.mit.edu	37	chr17	79556036	79556036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtagccaagctccggggcGtccttgcatggcagcaaaca	9	6	13	13	3	0	0	0	0	0	0	2	0	2	0	3	3	5	5	3	3	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79556036G>A	uc002kau.3	-	11	1397	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	NPLOC4_uc002kat.4_Silent_p.D405D|NPLOC4_uc010wur.1_Silent_p.D244D	NM_017921	NP_060391	Q8TAT6	NPL4_HUMAN	Homo sapiens nuclear protein localization 4 homolog (S. cerevisiae) (NPLOC4), mRNA.	405					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCTCCGGGGCGTCCTTGCATG	0.493													A	79556036	G	A	79556036	2	1	96	1	0	0	0	0	0	0	0	1	10662	1136	40	1		1	NPLOC4	17	79556036	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	461232	79556036	1639174	200	6438											
ARHGDIA	396	broad.mit.edu	37	chr17	79826780	79826780	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtccttcttgatggtgAgattccactcccaggacagg	8	11	10	12	0	1	2	0	2	1	1	5	4	5	3	4	3	0	0	4	3	0	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr17:79826780A>C	uc021uff.1	-	5	893	c.587T>G	c.(586-588)cTc>cGc	p.L196R	AK293147_uc021ufe.1_5'UTR|ARHGDIA_uc002kbq.3_Missense_Mutation_p.L196R|ARHGDIA_uc021ufg.1_Missense_Mutation_p.L152R|ARHGDIA_uc010dig.2_Non-coding_Transcript	NM_001185077	NP_004300	P52565	GDIR1_HUMAN	Homo sapiens Rho GDP dissociation inhibitor (GDI) alpha (ARHGDIA), transcript variant 1, mRNA.	196					anti-apoptosis|cellular component movement|negative regulation of axonogenesis|negative regulation of cell adhesion|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoskeleton|cytosol	GTPase activator activity|identical protein binding|Rho GDP-dissociation inhibitor activity			endometrium(1)|lung(1)|prostate(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CTTGATGGTGAGATTCCACTC	0.642													C	79826780	A	C	79826780	3	2	96	1	0	0	0	0	1	0	0	0	893	304	11	5	31	5	ARHGDIA	17	79826780	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08	270744	79826780	1368430	201	6439											
MC2R	4158	broad.mit.edu	37	chr18	13885086	13885086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccaccacagtgcggcgCatggtcacgatgctgtggta	9	7	13	12	3	1	0	1	0	0	0	1	1	1	0	2	3	3	4	2	3	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:13885086C>T	uc002ksp.1	-	1	609	c.432G>A	c.(430-432)atG>atA	p.M144I	MC2R_uc021uhs.1_Missense_Mutation_p.M144I	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	144					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CAGTGCGGCGCATGGTCACGA	0.577													T	13885086	C	T	13885086	3	4	96	1	0	0	0	0	1	0	0	0	9439	710	25	2	465	2	MC2R	18	13885086	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		13885086	64192162	202	6440											
NPC1	4864	broad.mit.edu	37	chr18	21119357	21119357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcagtgatattgtccactCgacagcaagacgactgtggc	10	9	12	10	2	1	2	1	1	0	1	3	4	2	2	1	2	1	1	1	2	2	2	rs120074132		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119357C>T	uc002kum.4	-	18	3147	c.2873G>A	c.(2872-2874)cGa>cAa	p.R958Q	NPC1_uc010xaz.2_Missense_Mutation_p.R691Q	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	958			R -> L (in NPC1).|R -> Q (in NPC1).		autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATTGTCCACTCGACAGCAAGA	0.448													T	21119357	C	T	21119357	3	4	96	1	0	0	0	0	1	0	0	0	10646	884	31	1	991	1	NPC1	18	21119357	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	7234271	21119357	56957891	203	6441											
NPC1	4864	broad.mit.edu	37	chr18	21119839	21119839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattgttgcagcccatgcCgccgcacaccatgttctgcc	7	10	8	16	2	2	0	1	0	1	0	2	0	2	0	5	0	4	4	5	0	0	3	rs34302553	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21119839C>T	uc002kum.4	-	17	3005	c.2731G>A	c.(2731-2733)Ggc>Agc	p.G911S	NPC1_uc010xaz.2_Missense_Mutation_p.G644S|NPC1_uc010xba.1_Missense_Mutation_p.G756S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	911					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CAGCCCATGCCGCCGCACACC	0.547													T	21119839	C	T	21119839	3	4	96	1	0	0	0	0	1	0	0	0	10646	652	23	1	1137	1	NPC1	18	21119839	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	482	21119839	56957409	204	6442											
NPC1	4864	broad.mit.edu	37	chr18	21136387	21136387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcctggctgctgggggcTgaccagaggtcaactggatt	7	8	16	10	1	1	2	1	1	0	1	1	4	1	3	2	5	3	3	2	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:21136387T>C	uc002kum.4	-	7	1420	c.1146A>G	c.(1144-1146)tcA>tcG	p.S382S	NPC1_uc010xaz.2_Silent_p.S183S|NPC1_uc010xba.1_Silent_p.S227S	NM_000271	NP_000262	O15118	NPC1_HUMAN	Homo sapiens Niemann-Pick disease, type C1 (NPC1), mRNA.	382					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCTGGGGGCTGACCAGAGGT	0.567													C	21136387	T	C	21136387	2	2	96	1	0	0	0	0	0	0	0	1	10646	1567	55	3		3	NPC1	18	21136387	Silent	SNP	T	TCGA-06-5858-01A-01D-1696-08	16548	21136387	56940861	205	6443											
DSG1	1828	broad.mit.edu	37	chr18	28908192	28908192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagcaagttacataccGcatctctggagtaggaattg	14	9	9	9	1	1	0	0	0	1	0	2	2	1	2	2	2	4	4	2	2	6	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:28908192G>A	uc002kwp.3	+	3	469	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001942	NP_001933	Q02413	DSG1_HUMAN	Homo sapiens desmoglein 1 (DSG1), mRNA.	86	Cadherin 1.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.R86H(2)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GTTACATACCGCATCTCTGGA	0.373													A	28908192	G	A	28908192	3	1	96	1	0	0	0	0	1	0	0	0	4815	1087	38	1	271	1	DSG1	18	28908192	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	7771805	28908192	49169056	206	6444											
RNF165	494470	broad.mit.edu	37	chr18	44036518	44036518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctctttcaccaactgtgCgtggaccagtggctcgccat	7	11	9	14	2	2	0	1	0	1	0	4	1	2	1	3	2	2	1	3	2	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44036518C>T	uc002lcb.1	+	7	1011	c.960C>T	c.(958-960)tgC>tgT	p.C320C	RNF165_uc002lby.1_Silent_p.C253C|RNF165_uc010dnn.1_Silent_p.C116C	NM_152470	NP_689683	Q6ZSG1	RN165_HUMAN	Homo sapiens ring finger protein 165 (RNF165), mRNA.	320							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		ACCAACTGTGCGTGGACCAGT	0.587													T	44036518	C	T	44036518	2	4	96	1	0	0	0	0	0	0	0	1	13547	776	27	1		1	RNF165	18	44036518	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	15128326	44036518	34040730	207	6445											
TCEB3C	162699	broad.mit.edu	37	chr18	44554670	44554670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggttttgtccgcgggcGccgcgtgccggttgctgctg	0	12	17	12	7	0	0	0	0	0	0	2	0	1	0	3	3	3	4	3	3	0	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:44554670G>A	uc010xdb.2	-	0	1780	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding	p.A515A(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GTccgcgggcgccgcgtgccg	0.672													A	44554670	G	A	44554670	3	1	96	1	0	0	0	0	1	0	0	0	15783	1087	38	1	1743	1	TCEB3C	18	44554670	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	518152	44554670	33522578	208	6446											
MAPK4	5596	broad.mit.edu	37	chr18	48252336	48252336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctttgctccctgcagccatCgactttctggagaagatcct	7	12	9	13	1	1	2	0	0	1	2	4	4	3	2	3	1	3	3	3	1	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:48252336C>T	uc002lev.3	+	4	1858	c.858C>T	c.(856-858)atC>atT	p.I286I	MAPK4_uc010xdm.2_Silent_p.I75I|MAPK4_uc010doz.3_Intron	NM_002747	NP_002738	P31152	MK04_HUMAN	Homo sapiens mitogen-activated protein kinase 4 (MAPK4), mRNA.	286	Protein kinase.				cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CTGCAGCCATCGACTTTCTGG	0.542													T	48252336	C	T	48252336	2	4	96	1	0	0	0	0	0	0	0	1	9355	874	31	1		1	MAPK4	18	48252336	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	3697666	48252336	29824912	209	6447											
KCNG2	26251	broad.mit.edu	37	chr18	77624216	77624216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcttcgcctgcgtgtcCgtgtccttcgtggccgtcac	3	12	11	15	5	2	0	1	0	1	0	6	0	4	0	4	1	2	1	4	1	1	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr18:77624216C>T	uc010xfl.2	+	0	549	c.549C>T	c.(547-549)tcC>tcT	p.S183S		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	183					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCGTGTCCGTGTCCTTCG	0.766													T	77624216	C	T	77624216	2	4	96	1	0	0	0	0	0	0	0	1	8086	639	23	1		1	KCNG2	18	77624216	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	29371880	77624216	453032	210	6448											
LPPR3	79948	broad.mit.edu	37	chr19	813085	813085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccttggggcccggcgCgcccggagccttggacatgg	3	5	18	15	5	0	0	0	0	0	0	0	2	0	2	5	7	1	0	5	7	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:813085C>T	uc002lpw.1	-	6	1790	c.1726G>A	c.(1726-1728)Gcg>Acg	p.A576T	LPPR3_uc021ulz.1_Missense_Mutation_p.A184T|LPPR3_uc002lpx.1_Missense_Mutation_p.A548T|LPPR3_uc002lpy.1_Missense_Mutation_p.A329T|MIR3187_uc021uma.1_5'Flank	NM_024888	NP_079164	Q6T4P5	LPPR3_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 3 (LPPR3), mRNA.	548						integral to membrane	phosphatidate phosphatase activity										GGGCCCGGCGCGCCCGGAGCC	0.726													T	813085	C	T	813085	3	4	96	1	0	0	0	0	1	0	0	0	8996	768	27	1	518	1	LPPR3	19	813085	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08		813085	58315898	211	6449											
MLLT1	4298	broad.mit.edu	37	chr19	6222504	6222504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaaggcagccttgggCggtggcgccttctcctcctt	3	12	12	14	2	1	1	0	1	1	0	4	1	3	1	5	4	1	1	5	4	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:6222504C>T	uc002mek.3	-	5	902	c.738G>A	c.(736-738)ccG>ccA	p.P246P		NM_005934	NP_005925	Q03111	ENL_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (MLLT1), mRNA.	246					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CAGCCTTGGGCGGTGGCGCCT	0.672			T	MLL	AL								T	6222504	C	T	6222504	2	4	96	1	0	0	0	0	0	0	0	1	9700	755	27	1		1	MLLT1	19	6222504	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	5409419	6222504	52906479	212	6450											
MUC16	94025	broad.mit.edu	37	chr19	9008202	9008202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagactgttccggtccaggGtgtaggggcccagctctttg	6	10	15	10	1	1	1	0	0	1	1	3	2	3	1	3	4	1	3	3	4	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:9008202G>A	uc002mkp.3	-	40	39554	c.39350C>T	c.(39349-39351)aCc>aTc	p.T13117I	MUC16_uc010dwi.3_5'Flank|MUC16_uc010dwj.3_5'Flank|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13119	SEA 7.				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						CCGGTCCAGGGTGTAGGGGCC	0.547													A	9008202	G	A	9008202	3	1	96	1	0	0	0	0	1	0	0	0	10049	1261	44	2	4349	2	MUC16	19	9008202	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	2785698	9008202	50120781	213	6451											
DNM2	1785	broad.mit.edu	37	chr19	10886407	10886407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccctcatcgacctcccGggtatcaccaaggtgcctgt	7	10	9	15	2	2	1	2	1	0	0	4	2	3	1	5	2	1	1	5	2	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:10886407G>A	uc002mpt.2	+	3	604	c.414G>A	c.(412-414)ccG>ccA	p.P138P	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.P138P|DNM2_uc010dxl.2_Silent_p.P138P|DNM2_uc002mpu.2_Silent_p.P138P|DNM2_uc002mpv.2_Silent_p.P138P	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	138					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCGACCTCCCGGGTATCACCA	0.587			"F, N, Splice, Mis, O"		ETP ALL								A	10886407	G	A	10886407	2	1	96	1	0	0	0	0	0	0	0	1	4711	1103	39	1		1	DNM2	19	10886407	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1878205	10886407	48242576	214	6452											
CARM1	10498	broad.mit.edu	37	chr19	11018751	11018751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacatcctgaaaacctgccGgggccacaccctggagcggt	10	5	11	15	2	0	1	0	1	0	0	1	2	1	2	5	4	4	0	5	4	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:11018751G>A	uc002mpz.3	+	2	509	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	CARM1_uc010dxn.3_Non-coding_Transcript	NM_199141	NP_954592	Q86X55	CARM1_HUMAN	Homo sapiens coactivator-associated arginine methyltransferase 1 (CARM1), mRNA.	128					cellular lipid metabolic process|histone H3-R2 methylation|interspecies interaction between organisms|pathogenesis|positive regulation of fat cell differentiation|regulation of estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleoplasm	beta-catenin binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-R17 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein-arginine omega-N asymmetric methyltransferase activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	13						AAAACCTGCCGGGGCCACACC	0.617													A	11018751	G	A	11018751	3	1	96	1	0	0	0	0	1	0	0	0	2681	1116	39	1	393	1	CARM1	19	11018751	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	132344	11018751	48110232	215	6453											
MAST1	22983	broad.mit.edu	37	chr19	12975736	12975736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcacaactatggcatcGtgcaccgcgacctcaagcct	10	9	8	14	3	1	0	1	0	0	0	2	1	1	0	3	1	4	3	3	1	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:12975736G>A	uc002mvm.3	+	12	1608	c.1480G>A	c.(1480-1482)Gtg>Atg	p.V494M		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	494	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CTATGGCATCGTGCACCGCGA	0.572													A	12975736	G	A	12975736	3	1	96	1	0	0	0	0	1	0	0	0	9399	1145	40	1	1530	1	MAST1	19	12975736	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1956985	12975736	46153247	216	6454											
TRMT1	55621	broad.mit.edu	37	chr19	13216154	13216154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttccggcggctccttcCgcttgttctgaagcagcctg	4	12	10	15	3	2	1	0	1	2	0	5	1	5	1	4	2	2	4	4	2	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:13216154C>T	uc002mwj.2	-	14	2010	c.1760G>A	c.(1759-1761)cGg>cAg	p.R587Q	LYL1_uc002mwi.3_5'Flank|TRMT1_uc010xmy.1_Missense_Mutation_p.R191Q|TRMT1_uc002mwk.2_Missense_Mutation_p.R558Q|TRMT1_uc002mwl.3_Missense_Mutation_p.R587Q|TRMT1_uc010xmz.1_3'UTR	NM_017722	NP_060192	Q9NXH9	TRM1_HUMAN	Homo sapiens TRM1 tRNA methyltransferase 1 homolog (S. cerevisiae) (TRMT1), transcript variant 1, mRNA.	587							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		CGGCTCCTTCCGCTTGTTCTG	0.622											OREG0025289	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	13216154	C	T	13216154	3	4	96	1	0	0	0	0	1	0	0	0	16662	652	23	1	227	1	TRMT1	19	13216154	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	240418	13216154	45912829	217	6455											
IL27RA	9466	broad.mit.edu	37	chr19	14150709	14150709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccgaagatgtcaggaggCggcctggaccctggtgagtg	8	7	16	10	2	1	2	1	1	0	1	1	5	1	4	3	5	1	0	3	5	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:14150709C>T	uc002mxx.3	+	3	944	c.521C>T	c.(520-522)gCg>gTg	p.A174V		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	174	Fibronectin type-III 1.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TGTCAGGAGGCGGCCTGGACC	0.592													T	14150709	C	T	14150709	3	4	96	1	0	0	0	0	1	0	0	0	7739	768	27	1	535	1	IL27RA	19	14150709	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	934555	14150709	44978274	218	6456											
SLC27A1	376497	broad.mit.edu	37	chr19	17612106	17612106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggtaaggcagggatggCggccgtcgcagacccccaca	9	3	17	12	3	0	1	0	0	0	1	1	3	0	3	3	6	0	3	3	6	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:17612106C>T	uc002ngu.1	+	10	1711	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	SLC27A1_uc010xpp.1_Missense_Mutation_p.A375V|SLC27A1_uc002ngv.1_Missense_Mutation_p.A156V	NM_198580	NP_940982	Q6PCB7	S27A1_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 1 (SLC27A1), mRNA.	554					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCAGGGATGGCGGCCGTCGCA	0.647													T	17612106	C	T	17612106	3	4	96	1	0	0	0	0	1	0	0	0	14619	768	27	1	1703	1	SLC27A1	19	17612106	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	3461397	17612106	41516877	219	6457											
NCAN	1463	broad.mit.edu	37	chr19	19356151	19356151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggcgagagaaccagccGgacaatttcttcgcgggtgg	10	7	14	10	4	1	1	0	0	1	1	2	4	1	2	2	4	3	0	2	4	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:19356151G>A	uc002nlz.3	+	12	3621	c.3522G>A	c.(3520-3522)ccG>ccA	p.P1174P	NCAN_uc002nma.3_Intron	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1174	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			AGAACCAGCCGGACAATTTCT	0.572													A	19356151	G	A	19356151	2	1	96	1	0	0	0	0	0	0	0	1	10280	1103	39	1		1	NCAN	19	19356151	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1744045	19356151	39772832	220	6458											
NPHS1	4868	broad.mit.edu	37	chr19	36340484	36340484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgaatgaggccttgatgGgggcctccagtgctgggcta	6	9	17	9	1	0	3	0	3	0	0	1	3	1	3	3	5	1	2	3	5	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:36340484G>A	uc002oby.3	-	5	836	c.680C>T	c.(679-681)cCc>cTc	p.P227L		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	227	Ig-like C2-type 2.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GGCCTTGATGGGGGCCTCCAG	0.587													A	36340484	G	A	36340484	3	1	96	1	0	0	0	0	1	0	0	0	10658	1232	43	2	3141	2	NPHS1	19	36340484	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16984333	36340484	22788499	221	6459											
SIPA1L3	23094	broad.mit.edu	37	chr19	38590640	38590640	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcctggaagatgctacGcccacagccaccaagcatgg	11	6	9	15	1	0	1	0	0	0	1	2	2	2	2	5	2	4	2	5	2	3	1	rs142598144		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:38590640G>A	uc002ohk.3	+	4	2213	c.1704G>A	c.(1702-1704)acG>acA	p.T568T		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	568					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AAGATGCTACGCCCACAGCCA	0.607													A	38590640	G	A	38590640	2	1	96	1	0	0	0	0	0	0	0	1	14425	1074	38	1		1	SIPA1L3	19	38590640	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	2250156	38590640	20538343	222	6460											
SPTBN4	57731	broad.mit.edu	37	chr19	41009787	41009787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagccatgaagaaacaCgaagcgatcgaggcagacat	16	3	13	9	3	0	3	0	1	0	2	1	7	0	3	1	2	3	2	1	2	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:41009787C>T	uc002ony.3	+	11	1499	c.1413C>T	c.(1411-1413)caC>caT	p.H471H	SPTBN4_uc002onx.3_Silent_p.H471H|SPTBN4_uc002onz.3_Silent_p.H471H	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	471					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAAGAAACACGAAGCGATCG	0.622													T	41009787	C	T	41009787	2	4	96	1	0	0	0	0	0	0	0	1	15217	535	19	1		1	SPTBN4	19	41009787	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2419147	41009787	18119196	223	6461											
ARHGEF1	9138	broad.mit.edu	37	chr19	42398544	42398544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggggaaccggcggtcGgacgagcctgccaagaccaa	10	4	16	11	4	0	2	0	1	0	1	1	5	0	4	4	5	3	0	4	5	3	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42398544G>A	uc002orx.3	+	9	874	c.765G>A	c.(763-765)tcG>tcA	p.S255S	ARHGEF1_uc002orw.1_Silent_p.S255S|ARHGEF1_uc002ory.3_Silent_p.S222S|ARHGEF1_uc002orz.3_Silent_p.S93S|ARHGEF1_uc002osa.3_Silent_p.S270S|ARHGEF1_uc002osb.3_Silent_p.S237S|ARHGEF1_uc002osc.3_5'Flank|ARHGEF1_uc002osd.3_5'Flank	NM_004706	NP_004697	Q92888	ARHG1_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 1 (ARHGEF1), transcript variant 2, mRNA.	255					cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCGGCGGTCGGACGAGCCTG	0.622													A	42398544	G	A	42398544	2	1	96	1	0	0	0	0	0	0	0	1	896	1103	39	1		1	ARHGEF1	19	42398544	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	1388757	42398544	16730439	224	6462											
DEDD2	162989	broad.mit.edu	37	chr19	42703643	42703643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatcagcaacaggcGgcgccggccagcctcatagt	8	6	10	17	3	2	0	2	0	0	0	4	0	4	0	5	3	3	1	5	3	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:42703643G>A	uc002osu.1	-	4	996	c.928C>T	c.(928-930)Cgc>Tgc	p.R310C	DEDD2_uc002osv.1_Non-coding_Transcript|DEDD2_uc002osw.1_Missense_Mutation_p.R305C	NM_133328	NP_579874	Q8WXF8	DEDD2_HUMAN	Homo sapiens death effector domain containing 2 (DEDD2), mRNA.	310					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				AGCAACAGGCGGCGCCGGCCA	0.672													A	42703643	G	A	42703643	3	1	96	1	0	0	0	0	1	0	0	0	4419	1116	39	1	56	1	DEDD2	19	42703643	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	305099	42703643	16425340	225	6463											
PSG8	440533	broad.mit.edu	37	chr19	43259226	43259226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcctgtttcatttctcGtgacactgggtagaatgagg	8	13	13	7	1	2	3	1	2	1	1	4	3	3	3	1	3	0	2	1	3	2	3	rs150991804		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:43259226G>A	uc002ouo.2	-	3	1000	c.902C>T	c.(901-903)aCg>aTg	p.T301M	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.T301M|PSG8_uc010ein.3_Missense_Mutation_p.T179M|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	301	Ig-like C2-type 2.					extracellular region		p.V300V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCATTTCTCGTGACACTGGG	0.478													A	43259226	G	A	43259226	3	1	96	1	0	0	0	0	1	0	0	0	12746	1145	40	1	407	1	PSG8	19	43259226	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	555583	43259226	15869757	226	6464											
EML2	24139	broad.mit.edu	37	chr19	46137650	46137650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgctgtatagcacggctaCggaggccacaaagtacacta	13	6	10	12	3	0	0	0	0	0	0	0	1	0	1	1	3	3	5	1	3	6	5	rs143778766		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46137650C>T	uc010xxm.2	-	6	935	c.862G>A	c.(862-864)Gta>Ata	p.V288I	EML2_uc002pcn.3_Missense_Mutation_p.V87I|EML2_uc002pcp.3_Intron|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.V234I|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Missense_Mutation_p.V87I|EML2_uc010ekj.3_Missense_Mutation_p.V87I	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	87					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCACGGCTACGGAGGCCACA	0.607													T	46137650	C	T	46137650	3	4	96	1	0	0	0	0	1	0	0	0	5138	536	19	1	1754	1	EML2	19	46137650	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	2878424	46137650	12991333	227	6465											
SYMPK	8189	broad.mit.edu	37	chr19	46345702	46345702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcttcagattcttaCgcacactgctcacctgcgat	8	11	9	13	2	3	1	2	0	1	1	3	2	3	1	1	1	5	4	1	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46345702C>T	uc002pdn.3	-	8	1138	c.893G>A	c.(892-894)cGt>cAt	p.R298H	SYMPK_uc002pdo.1_Missense_Mutation_p.R298H|SYMPK_uc002pdp.1_Missense_Mutation_p.R298H|SYMPK_uc002pdq.2_Missense_Mutation_p.R298H	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	298					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CAGATTCTTACGCACACTGCT	0.592													T	46345702	C	T	46345702	3	4	96	1	0	0	0	0	1	0	0	0	15536	536	19	1	3007	1	SYMPK	19	46345702	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	208052	46345702	12783281	228	6466											
SYMPK	8189	broad.mit.edu	37	chr19	46351088	46351088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgtcggggtatctctgagtCagccatgcggggtgacaggg	6	8	18	9	3	2	2	1	2	1	0	4	2	2	2	1	5	2	1	1	5	1	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:46351088C>T	uc002pdn.3	-	6	843	c.598G>A	c.(598-600)Gac>Aac	p.D200N	SYMPK_uc002pdo.1_Missense_Mutation_p.D200N|SYMPK_uc002pdp.1_Missense_Mutation_p.D200N|SYMPK_uc002pdq.2_Missense_Mutation_p.D200N	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	200					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		ATCTCTGAGTCAGCCATGCGG	0.577													T	46351088	C	T	46351088	3	4	96	1	0	0	0	0	1	0	0	0	15536	826	29	2	3310	2	SYMPK	19	46351088	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	5386	46351088	12777895	229	6467											
GRIN2D	2906	broad.mit.edu	37	chr19	48945047	48945047	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctggacgccttcatctaCgatgctgcagtgctcaatta	10	11	9	11	2	3	0	2	0	1	0	3	2	3	1	1	1	5	4	1	1	4	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:48945047C>T	uc002pjc.4	+	10	2362	c.2274C>T	c.(2272-2274)taC>taT	p.Y758Y	GRIN2D_uc010elx.3_5'UTR	NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	758						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCTTCATCTACGATGCTGCAG	0.622													T	48945047	C	T	48945047	2	4	96	1	0	0	0	0	0	0	0	1	6837	547	19	1		1	GRIN2D	19	48945047	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	2593959	48945047	10183936	230	6468											
TSKS	60385	broad.mit.edu	37	chr19	50243103	50243103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctccccccattgttcccGtggacccctcaagtggcagg	5	9	10	17	1	1	0	1	0	0	0	3	1	3	1	7	3	1	2	7	3	1	2	rs141726866	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:50243103G>A	uc002ppm.3	-	10	1720	c.1709C>T	c.(1708-1710)aCg>aTg	p.T570M		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	570							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CATTGTTCCCGTGGACCCCTC	0.562													A	50243103	G	A	50243103	3	1	96	1	0	0	0	0	1	0	0	0	16727	1145	40	1	73	1	TSKS	19	50243103	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1298056	50243103	8885880	231	6469											
SIGLEC6	946	broad.mit.edu	37	chr19	52034117	52034117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagaagatggggggcgtcCcctgctcacagacccagggc	9	4	16	12	1	1	3	1	0	0	3	2	4	2	3	3	5	1	1	3	5	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52034117C>T	uc002pwy.3	-	2	732	c.524G>A	c.(523-525)gGg>gAg	p.G175E	SIGLEC6_uc002pwz.3_Missense_Mutation_p.G175E|SIGLEC6_uc010ydb.2_Missense_Mutation_p.G139E|SIGLEC6_uc010ydc.2_Missense_Mutation_p.G175E|SIGLEC6_uc002pxa.3_Missense_Mutation_p.G175E|SIGLEC6_uc010eoz.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epa.2_Missense_Mutation_p.G164E|SIGLEC6_uc010epb.2_Missense_Mutation_p.G128E	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	175	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GGGGGGCGTCCCCTGCTCACA	0.667													T	52034117	C	T	52034117	3	4	96	1	0	0	0	0	1	0	0	0	14406	623	22	2	894	2	SIGLEC6	19	52034117	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	1791014	52034117	7094866	232	6470											
FPR1	2357	broad.mit.edu	37	chr19	52249297	52249297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggccctctccagactggcGggaagggcgtggatcagcct	7	6	16	12	2	2	1	1	0	1	1	3	3	2	3	3	5	1	0	3	5	1	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr19:52249297G>A	uc021uyn.1	-	2	1097	c.951C>T	c.(949-951)ccC>ccT	p.P317P	FPR1_uc002pxq.3_Silent_p.P317P|FPR1_uc021uyo.1_Silent_p.P317P	NM_001193306	NP_002020	P21462	FPR1_HUMAN	Homo sapiens formyl peptide receptor 1 (FPR1), transcript variant 1, mRNA.	317					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	CCAGACTGGCGGGAAGGGCGT	0.557													A	52249297	G	A	52249297	2	1	96	1	0	0	0	0	0	0	0	1	6089	1103	39	1		1	FPR1	19	52249297	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	215180	52249297	6879686	233	6471											
PREX1	57580	broad.mit.edu	37	chr20	47249039	47249039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgaagctcacctttcGtgaacagcgctgtgtgcagc	8	9	12	12	2	1	2	1	2	0	0	2	2	1	2	2	1	5	3	2	1	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:47249039G>A	uc002xtw.1	-	33	4429	c.4406C>T	c.(4405-4407)aCg>aTg	p.T1469M	PREX1_uc002xtv.1_Missense_Mutation_p.T766M	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1469					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.T1469T(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CTCACCTTTCGTGAACAGCGC	0.677													A	47249039	G	A	47249039	3	1	96	1	0	0	0	0	1	0	0	0	12562	1145	40	1	601	1	PREX1	20	47249039	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		47249039	15776481	234	6472											
EEF1A2	1917	broad.mit.edu	37	chr20	62126254	62126254	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgatcttcttgatgtaggcGctgacttccttgacgatctc	6	14	9	12	3	3	3	0	3	3	0	5	5	4	3	2	1	0	2	2	1	1	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr20:62126254G>A	uc002yfe.1	-	3	691	c.525C>T	c.(523-525)agC>agT	p.S175S		NM_001958	NP_001949	Q05639	EF1A2_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 2 (EEF1A2), mRNA.	175						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity	p.V174A(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGGCGCTGACTTCCT	0.602													A	62126254	G	A	62126254	2	1	96	1	0	0	0	0	0	0	0	1	4963	1078	38	1		1	EEF1A2	20	62126254	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	14877215	62126254	899266	235	6473											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338467	28338467	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccttgccgccgccggAgtagagttggtcgatgttct	5	10	13	13	4	1	1	0	0	1	1	2	3	1	2	5	2	1	3	5	2	1	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:28338467A>C	uc002ymg.3	-	0	973	c.244T>G	c.(244-246)Tcc>Gcc	p.S82A		NM_007038	NP_008969	Q9UNA0	ATS5_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 5 (ADAMTS5), mRNA.	82					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CCGCCGCCGGAGTAGAGTTGG	0.697													C	28338467	A	C	28338467	3	2	96	1	0	0	0	0	1	0	0	0	269	304	11	5	2580	5	ADAMTS5	21	28338467	Missense_Mutation	SNP	A	TCGA-06-5858-01A-01D-1696-08		28338467	19791428	236	6474											
HSF2BP	11077	broad.mit.edu	37	chr21	44949729	44949729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggacattgccaggatgcGttgcaggggcagggagctcc	7	8	16	10	1	0	0	0	0	0	0	1	3	1	3	2	5	4	4	2	5	0	3	rs138290442	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:44949729G>A	uc002zdi.3	-	8	1242	c.910C>T	c.(910-912)Cgc>Tgc	p.R304C	HSF2BP_uc011aey.2_Missense_Mutation_p.R229C	NM_007031	NP_008962	O75031	HSF2B_HUMAN	Homo sapiens heat shock transcription factor 2 binding protein (HSF2BP), mRNA.	304					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCCAGGATGCGTTGCAGGGGC	0.587													A	44949729	G	A	44949729	3	1	96	1	0	0	0	0	1	0	0	0	7452	1145	40	1	98	1	HSF2BP	21	44949729	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	16611262	44949729	3180166	237	6475											
ICOSLG	23308	broad.mit.edu	37	chr21	45657075	45657075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacgtcgctgcctaccatCgctctgacttccttctcctg	4	13	6	18	3	2	1	0	1	2	0	7	1	4	1	5	0	2	2	5	0	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45657075C>T	uc010gpp.1	-	2	215	c.81G>A	c.(79-81)gcG>gcA	p.A27A	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Silent_p.A27A|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	27	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCTACCATCGCTCTGACTT	0.498													T	45657075	C	T	45657075	2	4	96	1	0	0	0	0	0	0	0	1	7545	871	31	1		1	ICOSLG	21	45657075	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	707346	45657075	2472820	238	6476											
PFKL	5211	broad.mit.edu	37	chr21	45732042	45732042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttaccaccagggaggggCgccgggcagcggcctacaac	8	4	14	15	3	0	0	0	0	0	0	0	1	0	1	5	5	4	1	5	5	3	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr21:45732042C>T	uc002zek.3	+	6	834	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	PFKL_uc002zel.3_Missense_Mutation_p.R98C|PFKL_uc011afd.1_Missense_Mutation_p.R145C			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	98					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CAGGGAGGGGCGCCGGGCAGC	0.642													T	45732042	C	T	45732042	3	4	96	1	0	0	0	0	1	0	0	0	11841	768	27	1	306	1	PFKL	21	45732042	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	74967	45732042	2397853	239	6477											
MICAL3	57553	broad.mit.edu	37	chr22	18301786	18301786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcacagctttcagatccGagggggcatcagctttgggc	8	9	14	10	1	2	1	2	0	0	1	3	2	3	1	1	3	3	4	1	3	0	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:18301786G>A	uc002zng.4	-	25	3994	c.3641C>T	c.(3640-3642)tCg>tTg	p.S1214L	MICAL3_uc011agl.2_Missense_Mutation_p.S1130L	NM_015241	NP_056056	Q7RTP6	MICA3_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 3 (MICAL3), transcript variant 1, mRNA.	1214	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.S1214L(1)		large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		TTTCAGATCCGAGGGGGCATC	0.622													A	18301786	G	A	18301786	3	1	96	1	0	0	0	0	1	0	0	0	9646	1059	37	1	2395	1	MICAL3	22	18301786	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		18301786	33002780	240	6478											
TSSK2	23617	broad.mit.edu	37	chr22	19119833	19119833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagacaggcttgaggccCgaccaccggcccgaccacaa	12	2	10	17	3	0	2	0	1	0	1	0	4	0	2	6	3	0	1	6	3	2	1	rs150037057		TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19119833C>T	uc002zow.2	+	0	1513	c.921C>T	c.(919-921)ccC>ccT	p.P307P	DGCR14_uc002zou.3_3'UTR	NM_053006	NP_443732	Q96PF2	TSSK2_HUMAN	Homo sapiens testis-specific serine kinase 2 (TSSK2), mRNA.	307					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCTTGAGGCCCGACCACCGGC	0.637													T	19119833	C	T	19119833	2	4	96	1	0	0	0	0	0	0	0	1	16770	639	23	1		1	TSSK2	22	19119833	Silent	SNP	C	TCGA-06-5858-01A-01D-1696-08	818047	19119833	32184733	241	6479											
HIRA	7290	broad.mit.edu	37	chr22	19398254	19398254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataccttgtcctccagttgCgaacttggtcccgtcagggt	6	12	10	13	2	1	0	1	0	0	0	4	1	4	0	4	2	3	1	4	2	2	4			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:19398254C>T	uc002zpf.1	-	1	305	c.85G>A	c.(85-87)Gca>Aca	p.A29T	HIRA_uc011agx.1_5'UTR|HIRA_uc010grn.1_Missense_Mutation_p.A29T|HIRA_uc010gro.2_5'UTR|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	29					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.F28F(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCAGTTGCGAACTTGGTC	0.408													T	19398254	C	T	19398254	3	4	96	1	0	0	0	0	1	0	0	0	7175	768	27	1	3064	1	HIRA	22	19398254	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	278421	19398254	31906312	242	6480											
TFIP11	24144	broad.mit.edu	37	chr22	26906086	26906086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgctctgcccacaccccGtaggtggcttcttccttggt	3	13	9	16	2	3	0	0	0	3	0	5	0	4	0	4	3	1	3	4	3	1	4	rs150326842	byFrequency	TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:26906086G>A	uc003acr.2	-	2	527	c.153C>T	c.(151-153)taC>taT	p.Y51Y	TFIP11_uc003acs.2_Silent_p.Y51Y|TFIP11_uc003act.2_Silent_p.Y51Y	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	51					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CCCACACCCCGTAGGTGGCTT	0.567													A	26906086	G	A	26906086	2	1	96	1	0	0	0	0	0	0	0	1	15907	1140	40	1		1	TFIP11	22	26906086	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	7507832	26906086	24398480	243	6481											
MCM5	4174	broad.mit.edu	37	chr22	35802697	35802697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctggcctcgagggctatgCcctgcccaggaagtgcaaca	8	6	12	15	1	0	0	0	0	0	0	1	2	0	1	4	3	4	2	4	3	3	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:35802697C>T	uc003anu.4	+	4	669	c.575C>T	c.(574-576)gCc>gTc	p.A192V	MCM5_uc003anv.4_Missense_Mutation_p.A149V|MCM5_uc010gws.2_5'Flank	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	192					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GAGGGCTATGCCCTGCCCAGG	0.602													T	35802697	C	T	35802697	3	4	96	1	0	0	0	0	1	0	0	0	9465	739	26	2	589	2	MCM5	22	35802697	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	8896611	35802697	15501869	244	6482											
CSF2RB	1439	broad.mit.edu	37	chr22	37328885	37328885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggaaacaatgaaaatgcGatacgaacacatagaccaca	19	5	8	9	2	0	2	0	1	0	1	0	5	0	3	1	1	4	0	1	1	7	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:37328885G>A	uc003aqa.4	+	8	1308	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	CSF2RB_uc003aqc.4_Missense_Mutation_p.R370Q	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	364	Fibronectin type-III 2.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity	p.R364Q(2)		breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	ATGAAAATGCGATACGAACAC	0.552													A	37328885	G	A	37328885	3	1	96	1	0	0	0	0	1	0	0	0	3968	1058	37	1	1121	1	CSF2RB	22	37328885	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1526188	37328885	13975681	245	6483											
FAM19A5	25817	broad.mit.edu	37	chr22	49042484	49042484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggaggacgatcgcccGgcagaccgcccgctgtgcgt	5	5	15	16	7	0	1	0	0	0	1	2	4	0	3	4	3	1	2	4	3	0	0			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:49042484G>A	uc003bim.4	+	1	305	c.188G>A	c.(187-189)cGg>cAg	p.R63Q	FAM19A5_uc003bio.4_Missense_Mutation_p.R56Q	NM_001082967	NP_001076436	Q7Z5A7	F19A5_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A5 (FAM19A5), transcript variant 1, mRNA.	63						extracellular region|integral to membrane				large_intestine(1)|lung(6)	7		all_cancers(38;2.95e-11)|all_epithelial(38;3.07e-10)|all_lung(38;2.89e-05)|Breast(42;0.000396)|Lung NSC(38;0.000471)|Ovarian(80;0.00934)|Lung SC(80;0.195)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0227)|BRCA - Breast invasive adenocarcinoma(115;0.119)		ACGATCGCCCGGCAGACCGCC	0.692													A	49042484	G	A	49042484	3	1	96	1	0	0	0	0	1	0	0	0	5582	1116	39	1	289	1	FAM19A5	22	49042484	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	11713599	49042484	2262082	246	6484											
MOV10L1	54456	broad.mit.edu	37	chr22	50596540	50596540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcaacccggccgaggccGtccaggtcctgcgctactgc	5	7	13	16	4	1	0	1	0	0	0	3	1	3	0	5	4	4	2	5	4	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50596540G>A	uc003bjj.3	+	22	3204	c.3121G>A	c.(3121-3123)Gtc>Atc	p.V1041I	MOV10L1_uc003bjk.4_Missense_Mutation_p.V1041I|MOV10L1_uc011arp.2_Missense_Mutation_p.V1021I|MOV10L1_uc003bjl.3_Missense_Mutation_p.V168I|MOV10L1_uc003bjm.1_Missense_Mutation_p.V84I	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1041					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCCGAGGCCGTCCAGGTCCT	0.587													A	50596540	G	A	50596540	3	1	96	1	0	0	0	0	1	0	0	0	9795	1145	40	1	3264	1	MOV10L1	22	50596540	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	1554056	50596540	708026	247	6485											
NCAPH2	29781	broad.mit.edu	37	chr22	50957116	50957116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccaatggaagtttccGtgtgcaggagccctgtccca	9	8	12	12	1	0	0	0	0	0	0	2	2	2	2	4	2	4	3	4	2	2	1			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chr22:50957116G>A	uc003blx.4	+	7	807	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	NCAPH2_uc003blq.4_Missense_Mutation_p.V229M|NCAPH2_uc003blv.3_Missense_Mutation_p.V229M|NCAPH2_uc003blr.4_Missense_Mutation_p.V229M	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	229					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGAAGTTTCCGTGTGCAGGAG	0.647													A	50957116	G	A	50957116	3	1	96	1	0	0	0	0	1	0	0	0	10286	1145	40	1	715	1	NCAPH2	22	50957116	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	360576	50957116	347450	248	6486											
ZBED1	9189	broad.mit.edu	37	chrX	2408513	2408513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcacgcatctgctccGtgttgctcttgacgaactcg	6	12	10	13	4	3	1	1	1	2	0	5	2	4	1	1	1	3	5	1	1	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:2408513G>A	uc022brx.1	-	0	248	c.248C>T	c.(247-249)aCg>aTg	p.T83M	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.T83M|ZBED1_uc004cqg.2_Missense_Mutation_p.T83M|ZBED1_uc022brw.1_Missense_Mutation_p.T83M	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	83						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCTGCTCCGTGTTGCTCTT	0.632													A	2408513	G	A	2408513	3	1	96	1	0	0	0	0	1	0	0	0	17619	1145	40	1	1840	1	ZBED1	23	2408513	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08		2408513	152862047	249	6487											
CXorf22	170063	broad.mit.edu	37	chrX	35993898	35993898	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagctagtattgagaccaCgaggcttcttcatgaaaaca	14	10	9	8	1	2	3	1	3	1	1	2	5	2	3	1	1	2	3	1	1	4	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:35993898C>T	uc004ddj.3	+	14	2647	c.2581C>T	c.(2581-2583)Cga>Tga	p.R861*	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	861										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTGAGACCACGAGGCTTCTT	0.438													T	35993898	C	T	35993898	4	4	96	1	0	0	0	0	0	1	0	0	4135	528	19	1	2639	1	CXorf22	23	35993898	Nonsense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	33585385	35993898	119276662	250	6488											
BMP15	9210	broad.mit.edu	37	chrX	50659329	50659329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctttccaaatcagcttcCgccagctgggttgggatcac	8	10	9	14	1	2	0	2	0	0	0	4	1	4	1	4	2	2	3	4	2	1	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:50659329C>T	uc011mnw.2	+	1	950	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	301					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCAGCTTCCGCCAGCTGGG	0.498													T	50659329	C	T	50659329	3	4	96	1	0	0	0	0	1	0	0	0	1464	652	23	1	907	1	BMP15	23	50659329	Missense_Mutation	SNP	C	TCGA-06-5858-01A-01D-1696-08	14665431	50659329	104611231	251	6489											
ATRX	546	broad.mit.edu	37	chrX	76814187	76814187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcttagtttgtccaaagcGataaactctgaatatactct	13	13	7	8	1	2	1	0	1	2	0	3	2	3	1	1	1	3	2	1	1	7	5			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:76814187G>A	uc004ecp.4	-	28	6689	c.6457C>T	c.(6457-6459)Cgc>Tgc	p.R2153C	ATRX_uc004ecq.4_Missense_Mutation_p.R2115C|ATRX_uc004eco.4_Missense_Mutation_p.R1938C	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2153	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.R2153C(2)|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)	TGTCCAAAGCGATAAACTCTG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76814187	G	A	76814187	3	1	96	1	0	0	0	0	1	0	0	0	1213	1058	37	1	1049	1	ATRX	23	76814187	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	26154858	76814187	78456373	252	6490											
PCDH19	57526	broad.mit.edu	37	chrX	99662086	99662086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattgatggagacataggTgaagacaggcatgtcccgca	12	7	15	7	1	0	4	0	2	0	2	1	6	1	5	1	4	0	2	1	4	2	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:99662086T>C	uc010nmz.3	-	0	3186	c.1510A>G	c.(1510-1512)Acc>Gcc	p.T504A	PCDH19_uc004efw.4_Missense_Mutation_p.T504A|PCDH19_uc004efx.4_Missense_Mutation_p.T504A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	504	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GAGACATAGGTGAAGACAGGC	0.577													C	99662086	T	C	99662086	3	2	96	1	0	0	0	0	1	0	0	0	11590	1696	59	3	1960	3	PCDH19	23	99662086	Missense_Mutation	SNP	T	TCGA-06-5858-01A-01D-1696-08	22847899	99662086	55608474	253	6491											
FLNA	2316	broad.mit.edu	37	chrX	153580717	153580717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcagcgggaacaaagcGgatgcagtaggtgtggttct	10	9	14	8	2	2	0	1	0	2	0	3	2	2	2	0	4	4	3	0	4	3	2			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153580717G>A	uc004fkk.2	-	40	6850	c.6601C>T	c.(6601-6603)Cgc>Tgc	p.R2201C	FLNA_uc011mzn.1_Missense_Mutation_p.R334C|FLNA_uc010nuu.1_Missense_Mutation_p.R2193C	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2201					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAACAAAGCGGATGCAGTAG	0.597													A	153580717	G	A	153580717	3	1	96	1	0	0	0	0	1	0	0	0	5982	1116	39	1	1374	1	FLNA	23	153580717	Missense_Mutation	SNP	G	TCGA-06-5858-01A-01D-1696-08	53918631	153580717	1689843	254	6492											
FLNA	2316	broad.mit.edu	37	chrX	153587696	153587696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcgaccgagcagctgccGtccttgttatccatgcagga	8	10	10	13	3	0	0	0	0	0	0	3	3	2	1	4	1	5	4	4	1	2	3			TCGA-06-5858-01A-01D-1696-08	TCGA-06-5858-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	951799e6-12f0-4cf6-8732-f2e044db7210	a82d9e52-3c42-4897-b2e5-52af338c2196	g.chrX:153587696G>A	uc004fkk.2	-	24	4470	c.4221C>T	c.(4219-4221)gaC>gaT	p.D1407D	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Silent_p.D1407D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1407					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCAGCTGCCGTCCTTGTTAT	0.632													A	153587696	G	A	153587696	2	1	96	1	0	0	0	0	0	0	0	1	5982	1136	40	1		1	FLNA	23	153587696	Silent	SNP	G	TCGA-06-5858-01A-01D-1696-08	6979	153587696	1682864	255	6493											
EPHA8	2046	broad.mit.edu	37	chr1	22902985	22902985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagccagttcctcaaaatCgacaccattgcggccgacga	13	6	9	13	4	1	0	1	0	0	0	3	4	2	0	4	1	2	1	4	1	3	2	rs142515766	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:22902985C>T	uc001bfx.1	+	2	560	c.435C>T	c.(433-435)atC>atT	p.I145I	EPHA8_uc001bfw.3_Silent_p.I145I	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	145						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TCCTCAAAATCGACACCATTG	0.612													T	22902985	C	T	22902985	2	4	97	1	0	0	0	0	0	0	0	1	5214	874	31	1		1	EPHA8	1	22902985	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		22902985	226347636	1	6494											
FAM129A	116496	broad.mit.edu	37	chr1	184764446	184764446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcagtgagtgtgcaggcctCtcctgggagctccccctcca	5	8	13	15	0	1	1	0	1	1	0	4	2	3	2	5	3	2	3	5	3	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:184764446C>T	uc001gra.3	-	13	2646	c.2452G>A	c.(2452-2454)Gag>Aag	p.E818K	FAM129A_uc001grb.1_Intron	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	818	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCAGGCCTCTCCTGGGAGC	0.647													T	184764446	C	T	184764446	3	4	97	1	0	0	0	0	1	0	0	0	5481	922	32	2	338	2	FAM129A	1	184764446	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	161861461	184764446	64486175	2	6495											
CACNA1S	779	broad.mit.edu	37	chr1	201052298	201052298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttccgcctcaccttgcaaaCgggtcagccagagaggctgg	8	7	13	13	2	2	1	2	0	0	1	3	2	3	1	4	3	3	3	4	3	1	2	rs146696298		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:201052298C>T	uc001gvv.3	-	9	1612	c.1385G>A	c.(1384-1386)cGt>cAt	p.R462H		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	462					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ACCTTGCAAACGGGTCAGCCA	0.557													T	201052298	C	T	201052298	3	4	97	1	0	0	0	0	1	0	0	0	2573	536	19	1	4376	1	CACNA1S	1	201052298	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	16287852	201052298	48198323	3	6496											
KLHL12	59349	broad.mit.edu	37	chr1	202862387	202862387	+	Frame_Shift_Del	DEL	C	C	-																															cctgcaattgcatagagtctCccccgaagcactgtggcccc																										TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr1:202862387delC	uc001gyo.1	-	10	1760	c.1560delG	c.(1558-1560)gggfs	p.G520fs	KLHL12_uc001gym.1_Intron|KLHL12_uc001gyn.1_Intron|KLHL12_uc010pqc.1_Frame_Shift_Del_p.G558fs|KLHL12_uc009xah.1_Frame_Shift_Del_p.G419fs	NM_021633	NP_067646	Q53G59	KLH12_HUMAN	Homo sapiens kelch-like 12 (Drosophila) (KLHL12), mRNA.	520	Interaction with DVL3.				Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			CATAGAGTCTCCCCCGAAGCA	0.468													-	202862387	C	-	202862387	7	5	97	1	0	1	0	1	0	0	0	0	8426	842	30	0	154	0	KLHL12	1	202862387	Frame_Shift_Del	DEL	C	TCGA-06-5859-01A-01D-1696-08	1810089	202862387	46388234	4	6497											
CCDC85A	114800	broad.mit.edu	37	chr2	56599613	56599613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcctgcctactctcccGgtgagtgaagatgagtcagc	8	9	12	12	2	2	4	1	3	1	1	3	5	2	4	3	1	4	0	3	1	2	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:56599613G>A	uc002rzn.3	+	4	1954	c.1452_splice	c.e4+1	p.P484_splice	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	484										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTACTCTCCCGGTGAGTGAAG	0.517													A	56599613	G	A	56599613	2	1	97	1	0	0	0	0	0	0	0	1	2887	1130	39	1		1	CCDC85A	2	56599613	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		56599613	186599760	5	6498											
BCL11A	53335	broad.mit.edu	37	chr2	60688423	60688423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgacgtcgggcagggCgcggctctcgtcgcccacgc	4	6	15	16	7	1	1	0	1	1	0	4	1	1	1	1	3	1	3	1	3	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:60688423C>T	uc002sae.1	-	3	1852	c.1624G>A	c.(1624-1626)Gcc>Acc	p.A542T	BCL11A_uc002sab.3_Missense_Mutation_p.A542T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A211T|BCL11A_uc010ypj.2_Missense_Mutation_p.A508T|BCL11A_uc002sad.1_Missense_Mutation_p.A390T|BCL11A_uc002saf.1_Missense_Mutation_p.A508T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	542					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCGGGCAGGGCGCGGCTCTCG	0.701			T	IGH@	B-CLL								T	60688423	C	T	60688423	3	4	97	1	0	0	0	0	1	0	0	0	1368	768	27	1	993	1	BCL11A	2	60688423	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	4088810	60688423	182510950	6	6499											
SGPP2	130367	broad.mit.edu	37	chr2	223423423	223423423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggaattgtgttgatcCtcttggttcgtcagcttgta	6	16	12	7	1	2	1	1	1	1	0	4	2	3	2	1	2	1	4	1	2	2	6			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr2:223423423C>T	uc010zlo.2	+	4	1006	c.1006C>T	c.(1006-1008)Ctc>Ttc	p.L336F	SGPP2_uc010zlp.2_Missense_Mutation_p.L208F	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	336					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		TGTGTTGATCCTCTTGGTTCG	0.478													T	223423423	C	T	223423423	3	4	97	1	0	0	0	0	1	0	0	0	14313	681	24	2	1024	2	SGPP2	2	223423423	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	162735000	223423423	19775950	7	6500											
LHFPL4	375323	broad.mit.edu	37	chr3	9594193	9594193	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggaagaggccgaagtaGccaggcttgggggtgctcac	9	7	17	8	1	1	1	1	0	0	1	1	3	1	2	2	5	2	3	2	5	4	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:9594193G>T	uc003bry.3	-	1	457	c.171C>A	c.(169-171)ggC>ggA	p.G57G		NM_198560	NP_940962	Q7Z7J7	LHPL4_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 4 (LHFPL4), mRNA.	57						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					GGCCGAAGTAGCCAGGCTTGG	0.652													T	9594193	G	T	9594193	2	4	97	1	0	0	0	0	0	0	0	1	8827	958	34	4		4	LHFPL4	3	9594193	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		9594193	188428237	8	6501											
NPRL2	10641	broad.mit.edu	37	chr3	50386328	50386328	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtagtgaggtcccactGtgagttgaagaaatcctcct	9	13	11	8	0	0	4	0	3	0	1	3	4	3	4	3	1	0	2	3	1	3	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50386328G>A	uc003daj.1	-	4	965	c.562C>T	c.(562-564)Cag>Tag	p.Q188*	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	188					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTCCCACTGTGAGTTGAAG	0.537													A	50386328	G	A	50386328	4	1	97	1	0	0	0	0	0	1	0	0	10673	1386	48	2	608	2	NPRL2	3	50386328	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	40792135	50386328	147636102	9	6502											
NPRL2	10641	broad.mit.edu	37	chr3	50387415	50387416	+	Frame_Shift_Del	DEL	TG	TG	-																															gtgatgatgtacacttggacTgtgtcaaacagctctcggga																										TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:50387415_50387416delTG	uc003daj.1	-	1	519_520	c.116_117delCA	c.(115-117)acafs	p.T39fs	CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	39	Interaction with PDPK1.				negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						ACACTTGGACTGTGTCAAACAG	0.559													-	50387416	TG	-	50387415	7	5	97	1	0	1	0	1	0	0	0	0	10673	1567	55	0	1065	0	NPRL2	3	50387415	Frame_Shift_Del	DEL	TG	TCGA-06-5859-01A-01D-1696-08	1087	50387415	147635015	10	6503											
KLHL6	89857	broad.mit.edu	37	chr3	183226008	183226008	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggggagtaagcagagtcGttctgatggcttgtgccgga	9	10	16	6	2	1	2	0	1	1	1	2	4	1	4	1	4	2	4	1	4	2	4			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr3:183226008G>A	uc003flr.3	-	2	806	c.748C>T	c.(748-750)Cga>Tga	p.R250*	KLHL6_uc003fls.1_Non-coding_Transcript|KLHL6_uc003flt.1_Nonsense_Mutation_p.R248*	NM_130446	NP_569713	Q8WZ60	KLHL6_HUMAN	Homo sapiens kelch-like 6 (Drosophila) (KLHL6), mRNA.	250	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			AAGCAGAGTCGTTCTGATGGC	0.552													A	183226008	G	A	183226008	4	1	97	1	0	0	0	0	0	1	0	0	8451	1153	40	1	1137	1	KLHL6	3	183226008	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	132838593	183226008	14796422	11	6504											
PDS5A	23244	broad.mit.edu	37	chr4	39865056	39865056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcactaccagcagctaatCgcaagcgagacatatcagat	14	7	9	11	2	1	2	1	0	0	2	2	3	1	2	1	1	4	4	1	1	4	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:39865056C>T	uc003guv.4	-	23	3206	c.2666G>A	c.(2665-2667)cGa>cAa	p.R889Q		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	889					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						AGCAGCTAATCGCAAGCGAGA	0.348													T	39865056	C	T	39865056	3	4	97	1	0	0	0	0	1	0	0	0	11767	884	31	1	1387	1	PDS5A	4	39865056	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		39865056	151289220	12	6505											
FRAS1	80144	broad.mit.edu	37	chr4	79350365	79350365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcggtcagcccaggaGgcagcacttctgtaggtaag	8	7	16	10	1	2	0	1	0	1	0	2	1	2	1	1	6	2	5	1	6	2	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:79350365G>A	uc003hlb.2	+	35	5268	c.4828G>A	c.(4828-4830)Ggc>Agc	p.G1610S	FRAS1_uc003hkw.3_Missense_Mutation_p.G1610S|FRAS1_uc010ijj.2_Missense_Mutation_p.G30S	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1609					cell communication	integral to membrane|plasma membrane	metal ion binding	p.G1610G(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAGCCCAGGAGGCAGCACTTC	0.527													A	79350365	G	A	79350365	3	1	97	1	0	0	0	0	1	0	0	0	6093	1000	35	2	4970	2	FRAS1	4	79350365	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	39485309	79350365	111803911	13	6506											
GK	2713	broad.mit.edu	37	chr4	166200284	166200284	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagtcccaaaaagagctcGtttttcttcaacggcctttt	11	14	6	10	2	2	1	1	0	1	1	4	1	3	1	2	1	2	2	2	1	5	6			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:166200284G>A	uc003ird.3	-	0	892	c.514C>T	c.(514-516)Cga>Tga	p.R172*	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	172					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						AAAAGAGCTCGTTTTTCTTCA	0.453													A	166200284	G	A	166200284	4	1	97	1	0	0	0	0	0	1	0	0	6476	1160	40	1		1	GK	4	166200284	Nonsense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	86849919	166200284	24953992	14	6507											
TRIML1	339976	broad.mit.edu	37	chr4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagatttgaccagtctgCgactgtgctgggtactcaga	10	10	13	8	1	2	3	1	1	1	2	2	5	2	4	1	2	3	2	1	2	2	2	rs147254109		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr4:189068102C>T	uc003izm.1	+	5	1098	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_uc003izn.1_Missense_Mutation_p.A52V	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	328	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.A328V(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537													T	189068102	C	T	189068102	3	4	97	1	0	0	0	0	1	0	0	0	16651	768	27	1	1005	1	TRIML1	4	189068102	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	22867818	189068102	2086174	15	6508											
DNAH5	1767	broad.mit.edu	37	chr5	13762882	13762882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaggaagccatagctttCgtccaggaacaaagaccagc	16	5	10	10	1	0	2	0	0	0	2	2	4	1	4	3	2	4	1	3	2	6	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:13762882C>T	uc003jfd.2	-	59	10272	c.10230G>A	c.(10228-10230)acG>acA	p.T3410T	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3410	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCATAGCTTTCGTCCAGGAAC	0.453									Kartagener syndrome				T	13762882	C	T	13762882	2	4	97	1	0	0	0	0	0	0	0	1	4643	871	31	1		1	DNAH5	5	13762882	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		13762882	167152378	16	6509											
OCLN	4950	broad.mit.edu	37	chr5	68805301	68805301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggttatggctatggctaCggaggctatacagacccaag	11	10	12	8	1	0	1	0	0	0	1	0	2	0	2	1	5	2	4	1	5	7	6	rs150730577	byFrequency	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:68805301C>T	uc003jwu.3	+	2	820	c.384C>T	c.(382-384)taC>taT	p.Y128Y	OCLN_uc003jwv.4_Silent_p.Y128Y|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_Intron|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	128	Gly/Tyr-rich.|MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity	p.Y128H(1)		endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		gctatggctaCGGAGGCTATA	0.488													T	68805301	C	T	68805301	2	4	97	1	0	0	0	0	0	0	0	1	10896	547	19	1		1	OCLN	5	68805301	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	55042419	68805301	112109959	17	6510											
ADAMTS19	171019	broad.mit.edu	37	chr5	129015540	129015540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatttggctggaactaccGttcattatgtaagacgaggc	11	12	10	8	2	2	1	2	0	0	1	2	3	2	2	1	3	2	3	1	3	5	5	rs149851287		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr5:129015540G>A	uc003kvb.1	+	16	2572	c.2572G>A	c.(2572-2574)Gtt>Att	p.V858I	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	858	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TGGAACTACCGTTCATTATGT	0.433													A	129015540	G	A	129015540	3	1	97	1	0	0	0	0	1	0	0	0	264	1145	40	1	2638	1	ADAMTS19	5	129015540	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	60210239	129015540	51899720	18	6511											
CARD11	84433	broad.mit.edu	37	chr7	2983971	2983971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtcattgtagctgtcccGctcttccttcatcttgtagt	4	17	7	13	2	4	0	2	0	2	0	7	0	6	0	2	0	1	4	2	0	2	6			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:2983971G>A	uc003smv.3	-	4	893	c.559C>T	c.(559-561)Cgg>Tgg	p.R187W		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	187					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TAGCTGTCCCGCTCTTCCTTC	0.557			Mis		DLBCL								A	2983971	G	A	2983971	3	1	97	1	0	0	0	0	1	0	0	0	2671	1086	38	1	2989	1	CARD11	7	2983971	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		2983971	156154692	19	6512											
HERPUD2	64224	broad.mit.edu	37	chr7	35712865	35712865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcagtctgcccgaataCaccaatctctgatccttcgt	10	10	8	13	2	2	1	0	1	2	0	5	3	3	2	3	1	3	1	3	1	4	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:35712865C>T	uc003tes.4	-	2	830	c.171G>A	c.(169-171)gtG>gtA	p.V57V	HERPUD2_uc003tet.3_Silent_p.V57V	NM_022373	NP_071768	Q9BSE4	HERP2_HUMAN	Homo sapiens HERPUD family member 2 (HERPUD2), mRNA.	57	Ubiquitin-like.				response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TGCCCGAATACACCAATCTCT	0.373													T	35712865	C	T	35712865	2	4	97	1	0	0	0	0	0	0	0	1	7119	465	17	2		2	HERPUD2	7	35712865	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	32728894	35712865	123425798	20	6513											
FAM40B	57464	broad.mit.edu	37	chr7	129104580	129104580	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactcaaccatatctaccagGtgagcagctaggagcacttc	13	8	8	12	0	2	1	1	1	1	0	3	2	2	2	2	2	6	3	2	2	5	4			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:129104580G>A	uc011koy.2	+	16	1816	c.1776_splice	c.e16+1	p.Q592_splice	FAM40B_uc003vow.3_Splice_Site_p.Q592_splice|FAM40B_uc011koz.2_Splice_Site_p.Q84_splice	NM_020704	NP_065755	Q9ULQ0	FA40B_HUMAN	Homo sapiens family with sequence similarity 40, member B (FAM40B), transcript variant 1, mRNA.	592										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TATCTACCAGGTGAGCAGCTA	0.468													A	129104580	G	A	129104580	5	1	97	1	0	0	0	0	0	0	1	0	5612	1275	44	2	1839	2	FAM40B	7	129104580	Splice_Site	SNP	G	TCGA-06-5859-01A-01D-1696-08	93391715	129104580	30034083	21	6514											
CREB3L2	64764	broad.mit.edu	37	chr7	137686380	137686380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagggcctcgccgtccccGggctctgacagctcgctcag	5	7	13	16	4	2	2	1	2	1	0	5	2	3	2	4	2	1	3	4	2	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:137686380G>A	uc003vtw.3	-	0	468	c.72C>T	c.(70-72)ccC>ccT	p.P24P	CREB3L2_uc003vtx.2_Silent_p.P24P|CREB3L2_uc003vty.4_Silent_p.P24P|AKR1D1_uc011kqd.1_5'Flank|AKR1D1_uc011kqb.1_5'Flank|AKR1D1_uc011kqc.1_5'Flank	NM_194071	NP_919047	Q70SY1	CR3L2_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 2 (CREB3L2), transcript variant 1, mRNA.	24					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CGCCGTCCCCGGGCTCTGACA	0.706			T	FUS	fibromyxoid sarcoma								A	137686380	G	A	137686380	2	1	97	1	0	0	0	0	0	0	0	1	3888	1103	39	1		1	CREB3L2	7	137686380	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08	8581800	137686380	21452283	22	6515											
TAS2R60	338398	broad.mit.edu	37	chr7	143140562	143140562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatgaatggagaccacaTggttctaggatcttcggtga	12	10	13	6	1	2	4	0	2	2	2	3	7	2	5	1	4	0	1	1	4	2	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:143140562T>C	uc011ktg.2	+	0	17	c.17T>C	c.(16-18)aTg>aCg	p.M6T	LOC285965_uc003wda.3_Intron	NM_177437	NP_803186	P59551	T2R60_HUMAN	Homo sapiens taste receptor, type 2, member 60 (TAS2R60), mRNA.	6					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					GGAGACCACATGGTTCTAGGA	0.468													C	143140562	T	C	143140562	3	2	97	1	0	0	0	0	1	0	0	0	15682	1464	51	3	19	3	TAS2R60	7	143140562	Missense_Mutation	SNP	T	TCGA-06-5859-01A-01D-1696-08	5454182	143140562	15998101	23	6516											
SSPO	23145	broad.mit.edu	37	chr7	149509076	149509076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccggtgccatcggcacCggttctgtgccaggtccccc	3	8	12	18	3	1	0	0	0	1	0	3	0	2	0	6	4	3	2	6	4	0	1	rs139588484	by1000genomes	TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr7:149509076C>T	uc010lpk.3	+	67	9613	c.9613C>T	c.(9613-9615)Cgg>Tgg	p.R3205W		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	3208	TSP type-1 11.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCATCGGCACCGGTTCTGTGC	0.687													T	149509076	C	T	149509076	3	4	97	1	0	0	0	0	1	0	0	0	15285	643	23	1	9886	1	SSPO	7	149509076	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	6368514	149509076	9629587	24	6517											
DOCK5	80005	broad.mit.edu	37	chr8	25181427	25181427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgatgaacccggatggcaCcactctgcaggatgggaggc	9	6	15	11	1	1	2	0	2	1	0	1	5	1	5	2	5	2	3	2	5	1	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:25181427C>A	uc003xeg.3	+	16	1816	c.1679C>A	c.(1678-1680)aCc>aAc	p.T560N	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.T274N|DOCK5_uc003xei.3_Missense_Mutation_p.T130N|DOCK5_uc003xej.3_5'Flank	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	560	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CCGGATGGCACCACTCTGCAG	0.488													A	25181427	C	A	25181427	3	1	97	1	0	0	0	0	1	0	0	0	4729	507	18	4	1745	4	DOCK5	8	25181427	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		25181427	121182595	25	6518											
TEX15	56154	broad.mit.edu	37	chr8	30700338	30700338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtttctgagaccatgaCgatttcaatatacatttcaa	14	15	5	7	1	3	2	2	2	1	1	3	4	3	2	1	0	1	1	1	0	5	6			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:30700338C>T	uc003xil.3	-	0	6196	c.6196G>A	c.(6196-6198)Gtc>Atc	p.V2066I		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2066										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GAGACCATGACGATTTCAATA	0.338													T	30700338	C	T	30700338	3	4	97	1	0	0	0	0	1	0	0	0	15879	536	19	1	2189	1	TEX15	8	30700338	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	5518911	30700338	115663684	26	6519											
PCMTD1	115294	broad.mit.edu	37	chr8	52733200	52733200	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccccttggcctgcatcTcatcatttatgaaatttcta	10	15	5	11	0	3	1	2	1	2	0	5	2	4	1	3	1	1	1	3	1	4	5			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:52733200T>A	uc003xqx.4	-	5	1126	c.785A>T	c.(784-786)gAg>gTg	p.E262V	PCMTD1_uc011ldm.2_Missense_Mutation_p.E132V|PCMTD1_uc011ldn.2_Missense_Mutation_p.E74V|PCMTD1_uc010lya.3_Missense_Mutation_p.E186V	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	262						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity	p.E262E(1)		NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				GGCCTGCATCTCATCATTTAT	0.408													A	52733200	T	A	52733200	3	1	97	1	0	0	0	0	1	0	0	0	11662	1551	54	5	292	5	PCMTD1	8	52733200	Missense_Mutation	SNP	T	TCGA-06-5859-01A-01D-1696-08	22032862	52733200	93630822	27	6520											
TCEA1	6917	broad.mit.edu	37	chr8	54897020	54897020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctttaagatttgatatcCtacttcgtactctatttttg	9	20	4	8	1	2	2	0	1	2	1	4	2	3	2	1	0	2	1	1	0	5	10			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:54897020C>T	uc003xru.3	-	6	904	c.581G>A	c.(580-582)aGg>aAg	p.R194K	TCEA1_uc003xrv.3_Missense_Mutation_p.R173K|TCEA1_uc011ldw.2_Intron|TCEA1_uc010lyg.3_Non-coding_Transcript	NM_006756	NP_006747	P23193	TCEA1_HUMAN	Homo sapiens transcription elongation factor A (SII), 1 (TCEA1), transcript variant 1, mRNA.	194	TFIIS central.				positive regulation of viral transcription|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	nucleoplasm	DNA binding|translation elongation factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;9.1e-07)|Epithelial(17;9.44e-05)|all cancers(17;0.000699)			ATTTGATATCCTACTTCGTAC	0.333			T	PLAG1	salivary adenoma								T	54897020	C	T	54897020	3	4	97	1	0	0	0	0	1	0	0	0	15767	681	24	2	340	2	TCEA1	8	54897020	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	2163820	54897020	91467002	28	6521											
OPLAH	26873	broad.mit.edu	37	chr8	145108275	145108275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggggaccttgcctggcGcccgcagggcctccgtcacc	4	7	14	16	3	1	0	1	0	0	0	2	1	2	1	6	4	1	2	6	4	0	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr8:145108275G>A	uc003zar.3	-	19	2790	c.2708C>T	c.(2707-2709)gCg>gTg	p.A903V	OPLAH_uc003zas.1_Silent_p.G177G	NM_017570	NP_060040	O14841	OPLA_HUMAN	Homo sapiens 5-oxoprolinase (ATP-hydrolysing) (OPLAH), mRNA.	903							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	CTTGCCTGGCGCCCGCAGGGC	0.642													A	145108275	G	A	145108275	3	1	97	1	0	0	0	0	1	0	0	0	10952	1087	38	1	1192	1	OPLAH	8	145108275	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	90211255	145108275	1255747	29	6522											
TLE4	7091	broad.mit.edu	37	chr9	82333807	82333807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgagacacgtgtacaCgggtgggaagggctgcgtca	9	5	15	12	4	1	1	1	0	0	1	1	3	1	2	2	3	2	2	2	3	2	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:82333807C>T	uc004ald.3	+	15	2435	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	TLE4_uc004alc.3_Missense_Mutation_p.T504M|TLE4_uc010mpr.3_Missense_Mutation_p.T383M|TLE4_uc004ale.3_Missense_Mutation_p.T141M|TLE4_uc011lsq.2_Missense_Mutation_p.T472M|TLE4_uc010mps.3_Missense_Mutation_p.T428M|TLE4_uc004alf.3_Missense_Mutation_p.T443M	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CACGTGTACACGGGTGGGAAG	0.602													T	82333807	C	T	82333807	3	4	97	1	0	0	0	0	1	0	0	0	16041	536	19	1	1569	1	TLE4	9	82333807	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		82333807	58879624	30	6523											
ABL1	25	broad.mit.edu	37	chr9	133750310	133750310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttggtgaaggtagctGattttggcctgagcaggttg	8	12	14	7	0	0	3	0	3	0	0	0	3	0	3	2	4	2	4	2	4	2	5			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:133750310G>T	uc004bzw.3	+	6	1144	c.1141G>T	c.(1141-1143)Gat>Tat	p.D381Y	ABL1_uc004bzv.3_Missense_Mutation_p.D400Y	NM_005157	NP_005148	P00519	ABL1_HUMAN	Homo sapiens c-abl oncogene 1, non-receptor tyrosine kinase (ABL1), transcript variant a, mRNA.	381	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	GAAGGTAGCTGATTTTGGCCT	0.537			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133750310	G	T	133750310	3	4	97	1	0	0	0	0	1	0	0	0	92	1290	45	4	1307	4	ABL1	9	133750310	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	51416503	133750310	7463121	31	6524											
LHX3	8022	broad.mit.edu	37	chr9	139091685	139091685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaccacctgcgtgggcGggatgcccagctggcacgcg	5	4	17	15	5	0	0	0	0	0	0	0	1	0	1	3	4	3	3	3	4	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr9:139091685G>A	uc004cgz.3	-	2	427	c.308C>T	c.(307-309)cCg>cTg	p.P103L	LHX3_uc022bpm.1_Silent_p.P119P|LHX3_uc004cha.3_Missense_Mutation_p.P98L	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	98	LIM zinc-binding 2.				inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I102V(1)		large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CTGCGTGGGCGGGATGCCCAG	0.716													A	139091685	G	A	139091685	3	1	97	1	0	0	0	0	1	0	0	0	8832	1116	39	1	916	1	LHX3	9	139091685	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	5341375	139091685	2121746	32	6525											
PPME1	51400	broad.mit.edu	37	chr11	73914828	73914828	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagtattttgagtccAtggaagatgtagaagtagag	13	11	14	3	0	1	4	1	1	0	3	2	6	2	6	1	2	0	3	1	2	5	5			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr11:73914828A>T	uc001ouw.3	+	1	256	c.157A>T	c.(157-159)Atg>Ttg	p.M53L	PPME1_uc009yty.3_5'Flank	NM_016147	NP_057231	Q9Y570	PPME1_HUMAN	Homo sapiens protein phosphatase methylesterase 1 (PPME1), mRNA.	53					protein demethylation		carboxylesterase activity|protein C-terminal methylesterase activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(2)	5	Breast(11;3.29e-05)					TTTTGAGTCCATGGAAGATGT	0.373													T	73914828	A	T	73914828	3	4	97	1	0	0	0	0	1	0	0	0	12429	217	8	5	163	5	PPME1	11	73914828	Missense_Mutation	SNP	A	TCGA-06-5859-01A-01D-1696-08		73914828	61091688	33	6526											
CLECL1	160365	broad.mit.edu	37	chr12	9885637	9885637	+	Frame_Shift_Del	DEL	A	A	-																															ctccagccattgcacagatcAaaaagagagagaagaccaca																										TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:9885637delA	uc001qwi.3	-	0	259	c.224delT	c.(223-225)ttgfs	p.L75fs	CLECL1_uc001qwj.3_Frame_Shift_Del_p.L75fs	NM_001253750	NP_001240679	Q8IZS7	CLCL1_HUMAN	Homo sapiens C-type lectin-like 1 (CLECL1), transcript variant 3, mRNA.	75						integral to membrane|plasma membrane	sugar binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)	9						TGCACAGATCAAAAAGAGAGA	0.423													-	9885637	A	-	9885637	7	5	97	1	0	1	0	1	0	0	0	0	3554	131	5	0	287	0	CLECL1	12	9885637	Frame_Shift_Del	DEL	A	TCGA-06-5859-01A-01D-1696-08		9885637	123966258	34	6527											
C12orf40	283461	broad.mit.edu	37	chr12	40040162	40040162	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaccaacccatgtgaacatGaatagagacataaaaatgcc	20	6	6	9	0	0	3	0	2	0	1	0	4	0	3	3	0	4	0	3	0	8	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr12:40040162G>C	uc001rmc.3	+	3	401	c.234G>C	c.(232-234)atG>atC	p.M78I	C12orf40_uc009zjv.1_Non-coding_Transcript	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	78										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGTGAACATGAATAGAGACA	0.279													C	40040162	G	C	40040162	3	2	97	1	0	0	0	0	1	0	0	0	1699	1290	45	4	248	4	C12orf40	12	40040162	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	30154525	40040162	93811733	35	6528											
DHRS2	10202	broad.mit.edu	37	chr14	24108199	24108199	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccgggtagccgtggtcacGgggtccaccagtgggtgagt	7	7	17	10	3	1	1	1	1	0	0	2	1	2	1	4	5	2	1	4	5	2	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr14:24108199G>A	uc001wkt.4	+	1	573	c.126G>A	c.(124-126)acG>acA	p.T42T	DHRS2_uc010aku.1_Silent_p.T42T|DHRS2_uc001wku.4_Silent_p.T42T|DHRS2_uc010akv.3_Non-coding_Transcript	NM_182908	NP_878912	Q13268	DHRS2_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 2 (DHRS2), transcript variant 1, mRNA.	20					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CCGTGGTCACGGGGTCCACCA	0.597													A	24108199	G	A	24108199	2	1	97	1	0	0	0	0	0	0	0	1	4529	1103	39	1		1	DHRS2	14	24108199	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		24108199	83241341	36	6529											
C15orf42	90381	broad.mit.edu	37	chr15	90168464	90168464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagagcagggggcaaacCtacatctgccaggcctgtac	11	5	13	12	0	1	1	0	0	1	1	1	1	1	1	3	4	5	4	3	4	4	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr15:90168464C>T	uc002boe.3	+	19	4923	c.4923C>T	c.(4921-4923)acC>acT	p.T1641T	C15orf42_uc021sug.1_Silent_p.T1640T	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1641					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GGGGGCAAACCTACATCTGCC	0.612													T	90168464	C	T	90168464	2	4	97	1	0	0	0	0	0	0	0	1	1809	668	24	2		2	C15orf42	15	90168464	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08		90168464	12362928	37	6530											
MSLN	10232	broad.mit.edu	37	chr16	816982	816982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagaacatgaacgggtccGaatacttcgtgaagatccag	13	8	10	10	3	0	4	0	2	0	2	4	5	3	4	3	1	3	0	3	1	5	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:816982G>A	uc002cjw.2	+	13	1606	c.1495G>A	c.(1495-1497)Gaa>Aaa	p.E499K	MSLN_uc002cju.1_Missense_Mutation_p.E491K|MSLN_uc002cjt.1_Missense_Mutation_p.E491K|MSLN_uc010brd.1_Missense_Mutation_p.E490K|MSLN_uc002cjy.1_Missense_Mutation_p.E156K	NM_013404	NP_037536	Q13421	MSLN_HUMAN	Homo sapiens mesothelin (MSLN), transcript variant 2, mRNA.	499					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GAACGGGTCCGAATACTTCGT	0.632													A	816982	G	A	816982	3	1	97	1	0	0	0	0	1	0	0	0	9957	1059	37	1	1545	1	MSLN	16	816982	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		816982	89537771	38	6531											
PPL	5493	broad.mit.edu	37	chr16	4945705	4945705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctgagcgtccttcaCgtcttcgtgaaactagggga	8	10	11	12	3	2	2	1	2	1	0	5	3	4	3	2	2	3	1	2	2	2	3	rs142355114		TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:4945705C>T	uc002cyd.1	-	9	1075	c.985G>A	c.(985-987)Gtg>Atg	p.V329M		NM_002705	NP_002696	O60437	PEPL_HUMAN	Homo sapiens periplakin (PPL), mRNA.	329					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGTCCTTCACGTCTTCGTGA	0.577													T	4945705	C	T	4945705	3	4	97	1	0	0	0	0	1	0	0	0	12416	536	19	1	4337	1	PPL	16	4945705	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	4128723	4945705	85409048	39	6532											
SRCAP	10847	broad.mit.edu	37	chr16	30721206	30721206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagaggatgaggaagaGgatgatgaggaaacgattga	16	5	15	5	1	0	6	0	4	0	2	0	11	0	10	2	4	1	0	2	4	3	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr16:30721206G>A	uc002dze.1	+	7	1276	c.891G>A	c.(889-891)gaG>gaA	p.E297E	SRCAP_uc021tgn.1_Silent_p.E297E|SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Silent_p.E154E|SNORA30_uc002dzh.1_5'Flank	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	297	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ATGAGGAAGAGGATGATGAGG	0.522													A	30721206	G	A	30721206	2	1	97	1	0	0	0	0	0	0	0	1	15231	991	35	2		2	SRCAP	16	30721206	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08	25775501	30721206	59633547	40	6533											
ZNF99	7652	broad.mit.edu	37	chr19	22941588	22941588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattgctaaaagctttgcCgcattcttcatatttgtagg	11	15	7	8	1	2	0	1	0	1	0	2	0	2	0	1	1	3	4	1	1	5	8			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:22941588C>T	uc021urt.1	-	3	1278	c.1123G>A	c.(1123-1125)Ggc>Agc	p.G375S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCGCATTCTTCA	0.368													T	22941588	C	T	22941588	3	4	97	1	0	0	0	0	1	0	0	0	18303	652	23	1	2274	1	ZNF99	19	22941588	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08		22941588	36187395	41	6534											
MAP4K1	11184	broad.mit.edu	37	chr19	39104548	39104548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaatgaaagagaggcGtctggccagtgtagccccaa	11	7	12	11	1	1	2	0	1	1	1	2	3	2	2	4	2	1	1	4	2	4	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39104548G>A	uc002oix.1	-	7	613	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	MAP4K1_uc002oiy.1_Missense_Mutation_p.R169C|MAP4K1_uc010xug.2_5'UTR	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	169	Protein kinase.				activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AAAGAGAGGCGTCTGGCCAGT	0.627													A	39104548	G	A	39104548	3	1	97	1	0	0	0	0	1	0	0	0	9334	1145	40	1	2158	1	MAP4K1	19	39104548	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	16162960	39104548	20024435	42	6535											
ACTN4	81	broad.mit.edu	37	chr19	39219650	39219650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagggtgaggccgagttCaaccgcatcatgagcctggt	8	9	14	10	2	2	2	2	2	0	0	2	3	2	2	3	3	3	3	3	3	1	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39219650C>T	uc002oja.2	+	19	2552	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	ACTN4_uc021uug.1_Silent_p.F592F	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	811	EF-hand 2.				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			AGGCCGAGTTCAACCGCATCA	0.632													T	39219650	C	T	39219650	2	4	97	1	0	0	0	0	0	0	0	1	207	825	29	2		2	ACTN4	19	39219650	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	115102	39219650	19909333	43	6536											
NCCRP1	342897	broad.mit.edu	37	chr19	39691346	39691346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatggagcctggtgggctgCggcggacacgggtgaccgac	6	5	19	11	4	0	1	0	1	0	0	0	4	0	3	2	6	2	2	2	6	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:39691346C>T	uc002okq.1	+	5	797	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W		NM_001001414	NP_001001414	Q6ZVX7	NCRP1_HUMAN	Homo sapiens non-specific cytotoxic cell receptor protein 1 homolog (zebrafish) (NCCRP1), mRNA.	260	FBA.				protein catabolic process			p.R260R(1)		kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGGTGGGCTGCGGCGGACACG	0.622													T	39691346	C	T	39691346	3	4	97	1	0	0	0	0	1	0	0	0	10289	759	27	1	800	1	NCCRP1	19	39691346	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	471696	39691346	19437637	44	6537											
FCGBP	8857	broad.mit.edu	37	chr19	40396029	40396029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtagtggggatctccCgacgcctggcaggtggtaga	6	9	18	8	2	1	1	0	0	1	1	2	3	1	2	2	6	0	3	2	6	2	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:40396029C>T	uc002omp.4	-	14	7376	c.7368G>A	c.(7366-7368)tcG>tcA	p.S2456S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2456	VWFD 6.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGGGATCTCCCGACGCCTGGC	0.682													T	40396029	C	T	40396029	2	4	97	1	0	0	0	0	0	0	0	1	5827	639	23	1		1	FCGBP	19	40396029	Silent	SNP	C	TCGA-06-5859-01A-01D-1696-08	704683	40396029	18732954	45	6538											
ZNF526	116115	broad.mit.edu	37	chr19	42730234	42730234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcgcctttgcccgcgcccCccgcctccccatcactggtc	3	8	8	22	4	1	0	1	0	0	0	4	0	2	0	8	1	1	0	8	1	0	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr19:42730234C>T	uc002osz.1	+	2	1835	c.1679C>T	c.(1678-1680)cCc>cTc	p.P560L	ZNF526_uc021uvc.1_Missense_Mutation_p.P560L	NM_133444	NP_597701	Q8TF50	ZN526_HUMAN	Homo sapiens zinc finger protein 526 (ZNF526), mRNA.	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				GCCCGCGCCCCCCGCCTCCCC	0.652													T	42730234	C	T	42730234	3	4	97	1	0	0	0	0	1	0	0	0	18068	623	22	2	1681	2	ZNF526	19	42730234	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	2334205	42730234	16398749	46	6539											
NCOA6	23054	broad.mit.edu	37	chr20	33364240	33364240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccttctgtacttttaGcttgctggactcttgattgt	5	18	7	11	0	2	1	0	1	2	0	3	2	3	2	2	1	3	3	2	1	2	7			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:33364240G>T	uc002xav.3	-	4	2818	c.247C>A	c.(247-249)Cta>Ata	p.L83I	NCOA6_uc002xaw.3_Missense_Mutation_p.L83I|NCOA6_uc021wcd.1_Missense_Mutation_p.L83I|NCOA6_uc021wce.1_Missense_Mutation_p.L83I|NCOA6_uc021wcf.1_Missense_Mutation_p.L83I|NCOA6_uc010gew.1_Missense_Mutation_p.L83I	NM_014071	NP_054790	Q14686	NCOA6_HUMAN	Homo sapiens nuclear receptor coactivator 6 (NCOA6), transcript variant 1, mRNA.	83	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						TGTACTTTTAGCTTGCTGGAC	0.438													T	33364240	G	T	33364240	3	4	97	1	0	0	0	0	1	0	0	0	10309	962	34	4	5992	4	NCOA6	20	33364240	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		33364240	29661280	47	6540											
SPO11	23626	broad.mit.edu	37	chr20	55908298	55908298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgcaccaccagaaagatCaaaagtgattcaccaaaatc	18	7	5	11	0	2	3	2	1	0	2	3	3	2	3	3	0	1	1	3	0	5	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:55908298C>G	uc002xye.3	+	2	393	c.300C>G	c.(298-300)atC>atG	p.I100M	SPO11_uc002xyf.3_Missense_Mutation_p.I62M	NM_012444	NP_036576	Q9Y5K1	SPO11_HUMAN	Homo sapiens SPO11 meiotic protein covalently bound to DSB homolog (S. cerevisiae) (SPO11), transcript variant 1, mRNA.	100					female gamete generation|reciprocal meiotic recombination	chromosome|nucleus	ATP binding|DNA binding|hydrolase activity	p.I100I(2)		autonomic_ganglia(1)|breast(3)|large_intestine(4)|lung(8)|skin(2)	18	Lung NSC(12;0.0066)|all_lung(29;0.0188)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.73e-14)|Epithelial(14;9.02e-10)|all cancers(14;9.31e-09)			CCAGAAAGATCAAAAGTGATT	0.303								Editing and processing nucleases					G	55908298	C	G	55908298	3	3	97	1	0	0	0	0	1	0	0	0	15173	816	29	4	310	4	SPO11	20	55908298	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	22544058	55908298	7117222	48	6541											
OSBPL2	9885	broad.mit.edu	37	chr20	60831247	60831247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgaaggatgaacGgagaggaagaattctttgat	12	10	14	5	1	1	5	0	3	1	2	1	8	1	7	0	4	2	2	0	4	4	2			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr20:60831247G>A	uc002yck.1	+	1	209	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OSBPL2_uc002ycl.1_Missense_Mutation_p.G3R|OSBPL2_uc011aah.1_5'UTR	NM_144498	NP_653081	Q9H1P3	OSBL2_HUMAN	Homo sapiens oxysterol binding protein-like 2 (OSBPL2), transcript variant 2, mRNA.	3					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGGATGAACGGAGAGGAAGA	0.483													A	60831247	G	A	60831247	3	1	97	1	0	0	0	0	1	0	0	0	11354	1117	39	1	9	1	OSBPL2	20	60831247	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	4922949	60831247	2194273	49	6542											
PIWIL3	440822	broad.mit.edu	37	chr22	25150829	25150829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaatccagcagcttgaaaGttctggaaatggaaagaata	18	8	9	6	0	1	2	0	1	1	1	2	4	2	4	1	2	2	3	1	2	7	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:25150829G>A	uc003abd.1	-	6	1112	c.695C>T	c.(694-696)aCt>aTt	p.T232I	PIWIL3_uc011ajx.1_Missense_Mutation_p.T123I|PIWIL3_uc010gut.1_Missense_Mutation_p.T232I|PIWIL3_uc011ajy.1_Missense_Mutation_p.T123I	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	232					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CAGCTTGAAAGTTCTGGAAAT	0.333													A	25150829	G	A	25150829	3	1	97	1	0	0	0	0	1	0	0	0	12036	1029	36	2	2013	2	PIWIL3	22	25150829	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08		25150829	26153737	50	6543											
PKDREJ	10343	broad.mit.edu	37	chr22	46655574	46655574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtagaactatcacatgccCccgaagatgctggtccattt	10	11	9	11	1	1	2	1	0	0	2	2	3	2	2	3	2	3	2	3	2	4	3			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chr22:46655574C>T	uc003bhh.3	-	0	3646	c.3646G>A	c.(3646-3648)Ggg>Agg	p.G1216R		NM_006071	NP_006062	Q9NTG1	PKDRE_HUMAN	Homo sapiens polycystic kidney disease (polycystin) and REJ homolog (sperm receptor for egg jelly homolog, sea urchin) (PKDREJ), mRNA.	1216					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCACATGCCCCCGAAGATGC	0.448													T	46655574	C	T	46655574	3	4	97	1	0	0	0	0	1	0	0	0	12047	623	22	2	3119	2	PKDREJ	22	46655574	Missense_Mutation	SNP	C	TCGA-06-5859-01A-01D-1696-08	21504745	46655574	4648992	51	6544											
P2RY8	286530	broad.mit.edu	37	chrX	1584486	1584486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggagaagaggctctcGcggcgcgtgtccagggtgtc	5	7	18	11	5	1	2	0	0	1	2	4	3	2	2	1	5	0	1	1	5	1	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:1584486G>A	uc022brv.1	-	0	966	c.966C>T	c.(964-966)cgC>cgT	p.R322R	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.R322R	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	322						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGAGGCTCTCGCGGCGCGTGT	0.672			T	CRLF2	"B-ALL, Downs associated ALL"								A	1584486	G	A	1584486	2	1	97	1	0	0	0	0	0	0	0	1	11431	1074	38	1		1	P2RY8	23	1584486	Silent	SNP	G	TCGA-06-5859-01A-01D-1696-08		1584486	153686074	52	6545											
FAM47A	158724	broad.mit.edu	37	chrX	34149408	34149408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgggactctccagtctccgGaggctccgggcggagactgg	6	7	16	12	3	2	1	0	0	2	1	5	4	3	3	3	6	0	1	3	6	0	0			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:34149408G>T	uc004ddg.3	-	0	1040	c.988C>A	c.(988-990)Ccg>Acg	p.P330T		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	330										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CCAGTCTCCGGAGGCTCCGGG	0.637													T	34149408	G	T	34149408	3	4	97	1	0	0	0	0	1	0	0	0	5620	1174	41	4	1391	4	FAM47A	23	34149408	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	32564922	34149408	121121152	53	6546											
L1CAM	3897	broad.mit.edu	37	chrX	153130626	153130626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcagcaggctggtgttcGactggcactccaggtgcaac	8	7	14	12	1	0	0	0	0	0	0	2	1	1	0	1	4	4	7	1	4	1	1			TCGA-06-5859-01A-01D-1696-08	TCGA-06-5859-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb404507-ab63-4d82-99c6-f3297bffc46f	27396ca9-1e69-46d5-95e5-339bab1b003e	g.chrX:153130626G>A	uc004fjb.3	-	20	2897	c.2789C>T	c.(2788-2790)tCg>tTg	p.S930L	L1CAM_uc004fjc.3_Missense_Mutation_p.S930L|L1CAM_uc010nuo.3_Missense_Mutation_p.S925L	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	930	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTGGTGTTCGACTGGCACTC	0.701													A	153130626	G	A	153130626	3	1	97	1	0	0	0	0	1	0	0	0	8647	1059	37	1	1016	1	L1CAM	23	153130626	Missense_Mutation	SNP	G	TCGA-06-5859-01A-01D-1696-08	118981218	153130626	2139934	54	6547											
TNFRSF8	943	broad.mit.edu	37	chr1	12172031	12172031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccgactactacctggaCgaggccggccgctgcacggc	7	4	14	16	5	0	0	0	0	0	0	0	4	0	1	4	4	4	2	4	4	2	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:12172031C>T	uc001atq.3	+	6	975	c.753C>T	c.(751-753)gaC>gaT	p.D251D	TNFRSF8_uc010obc.2_Silent_p.D140D	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	251					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		ACTACCTGGACGAGGCCGGCC	0.602													T	12172031	C	T	12172031	2	4	98	1	0	0	0	0	0	0	0	1	16399	535	19	1		1	TNFRSF8	1	12172031	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		12172031	237078590	1	6548											
NT5C1A	84618	broad.mit.edu	37	chr1	40131873	40131873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgaaacaaggctcgggaGgacacagcgatggtgactgc	12	5	15	9	3	0	1	0	1	0	0	1	5	0	3	0	4	4	1	0	4	2	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:40131873G>A	uc001cdq.1	-	1	171	c.171C>T	c.(169-171)tcC>tcT	p.S57S		NM_032526	NP_115915	Q9BXI3	5NT1A_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic IA (NT5C1A), mRNA.	57					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGGCTCGGGAGGACACAGCGA	0.582													A	40131873	G	A	40131873	2	1	98	1	0	0	0	0	0	0	0	1	10761	987	35	2		2	NT5C1A	1	40131873	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	27959842	40131873	209118748	2	6549											
MSH4	4438	broad.mit.edu	37	chr1	76272802	76272802	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattatactatcccagttTgcagacaacacaacatatgc	16	10	4	11	0	0	1	0	0	0	1	1	1	1	1	1	0	5	2	1	0	7	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:76272802T>C	uc001dhd.2	+	2	679	c.564T>C	c.(562-564)ttT>ttC	p.F188F		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	188					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TATCCCAGTTTGCAGACAACA	0.373								Mismatch excision repair (MMR)					C	76272802	T	C	76272802	2	2	98	1	0	0	0	0	0	0	0	1	9948	1809	63	3		3	MSH4	1	76272802	Silent	SNP	T	TCGA-06-6388-01A-12D-1845-08	36140929	76272802	172977819	3	6550											
ELTD1	64123	broad.mit.edu	37	chr1	79392712	79392712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgaggtttcaataagaaGttgtcagatgatgaaagcaa	15	13	10	3	0	2	5	2	3	0	2	2	5	2	5	0	1	1	3	0	1	5	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:79392712G>T	uc001diq.4	-	7	1098	c.942C>A	c.(940-942)aaC>aaA	p.N314K		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	314					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCAATAAGAAGTTGTCAGATG	0.318													T	79392712	G	T	79392712	3	4	98	1	0	0	0	0	1	0	0	0	5125	1020	36	4	1162	4	ELTD1	1	79392712	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	3119910	79392712	169857909	4	6551											
CCDC76	54482	broad.mit.edu	37	chr1	100602642	100602643	+	Splice_Site	INS	-	-	T																															aagagagaaaccaaaacctgINStaagtgtttgatcagtaaaa																										TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:100602642_100602643insT	uc001dsv.3	+	3	280	c.261_splice	c.e3+1	p.P87_splice	CCDC76_uc010ouf.2_Splice_Site|CCDC76_uc009wea.3_Splice_Site_p.P87_splice	NM_019083	NP_061956	Q9NUP7	TRM13_HUMAN	Homo sapiens coiled-coil domain containing 76 (CCDC76), mRNA.	87					tRNA processing		metal ion binding|methyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)	21		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0814)|all cancers(265;0.133)|COAD - Colon adenocarcinoma(174;0.146)|Lung(183;0.194)		ACCAAAACCTGTAAGTGTTTGA	0.337													T	100602643	-	T	100602642	8	5	98	1	0	1	1	0	0	0	1	0	2878	1391	48	0	272	0	CCDC76	1	100602642	Splice_Site	INS	-	TCGA-06-6388-01A-12D-1845-08	21209930	100602642	148647979	5	6552											
KCND3	3752	broad.mit.edu	37	chr1	112524445	112524445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggccctgggagtggcGggaaaacttgaagatcctga	10	6	15	10	2	0	3	0	2	0	1	1	5	1	5	3	4	1	1	3	4	3	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:112524445G>A	uc001ebu.1	-	1	1384	c.904C>T	c.(904-906)Cgc>Tgc	p.R302C	KCND3_uc001ebv.1_Missense_Mutation_p.R302C	NM_004980	NP_004971	Q9UK17	KCND3_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 3 (KCND3), transcript variant 1, mRNA.	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		TGGGAGTGGCGGGAAAACTTG	0.582													A	112524445	G	A	112524445	3	1	98	1	0	0	0	0	1	0	0	0	8078	1116	39	1	1091	1	KCND3	1	112524445	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	11921803	112524445	136726176	6	6553											
FLG	2312	broad.mit.edu	37	chr1	152283656	152283656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcagcttcatggtgacGtgaccctgagtgcctggagc	8	8	15	10	1	1	4	1	3	0	1	1	5	1	5	2	3	3	2	2	3	0	1	rs144184134	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152283656G>A	uc001ezu.1	-	2	3742	c.3706C>T	c.(3706-3708)Cgt>Tgt	p.R1236C	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1236	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCATGGTGACGTGACCCTGAG	0.562									Ichthyosis				A	152283656	G	A	152283656	3	1	98	1	0	0	0	0	1	0	0	0	5971	1145	40	1	8483	1	FLG	1	152283656	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	39759211	152283656	96966965	7	6554											
FLG2	388698	broad.mit.edu	37	chr1	152328935	152328935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagccacatacatgttgttCgaacccagaggactgactca	12	9	9	11	1	1	3	1	2	0	1	2	5	1	4	2	1	3	2	2	1	2	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152328935C>T	uc001ezw.4	-	2	1400	c.1327G>A	c.(1327-1329)Gaa>Aaa	p.E443K	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	443	Ser-rich.						calcium ion binding|structural molecule activity	p.F442L(1)|p.E443V(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACATGTTGTTCGAACCCAGAG	0.448													T	152328935	C	T	152328935	3	4	98	1	0	0	0	0	1	0	0	0	5972	893	31	1	5852	1	FLG2	1	152328935	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	45279	152328935	96921686	8	6555											
SMCP	4184	broad.mit.edu	37	chr1	152857174	152857174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtctgagcccaactcaccGcaaactcaggacaagggctg	12	5	11	13	1	3	1	2	1	1	0	3	3	3	2	2	2	3	2	2	2	3	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:152857174G>A	uc021ozk.1	+	0	276	c.276G>A	c.(274-276)ccG>ccA	p.P92P	SMCP_uc001fat.3_Silent_p.P92P	NM_030663	NP_109588	P49901	MCSP_HUMAN	Homo sapiens sperm mitochondria-associated cysteine-rich protein (SMCP), nuclear gene encoding mitochondrial protein, mRNA.	92					penetration of zona pellucida|sperm motility	mitochondrial membrane		p.P92P(2)|p.P92L(1)		breast(1)|cervix(1)|endometrium(1)|lung(4)|urinary_tract(1)	8	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAACTCACCGCAAACTCAGG	0.537													A	152857174	G	A	152857174	2	1	98	1	0	0	0	0	0	0	0	1	14883	1074	38	1		1	SMCP	1	152857174	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	528239	152857174	96393447	9	6556											
USH2A	7399	broad.mit.edu	37	chr1	215799138	215799138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttacaggtgggtgtcTgtgaatgtggtgcgttcctt	5	16	13	7	1	1	1	0	1	1	0	3	1	3	1	2	3	2	1	2	3	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:215799138T>C	uc001hku.1	-	71	15981	c.15594A>G	c.(15592-15594)acA>acG	p.T5198T		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	5198					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)		GGTGGGTGTCTGTGAATGTGG	0.463										HNSCC(13;0.011)			C	215799138	T	C	215799138	2	2	98	1	0	0	0	0	0	0	0	1	17138	1567	55	3		3	USH2A	1	215799138	Silent	SNP	T	TCGA-06-6388-01A-12D-1845-08	62941964	215799138	33451483	10	6557											
RYR2	6262	broad.mit.edu	37	chr1	237806746	237806746	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgccaacaatagccaaAggtaaggccaacttcaattt	16	8	7	10	0	1	1	1	0	0	1	1	1	1	1	3	2	4	1	3	2	7	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr1:237806746A>T	uc001hyl.1	+	48	7462	c.7342_splice	c.e48+1	p.D2448_splice		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2448	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATAGCCAAAGGTAAGGCCA	0.438													T	237806746	A	T	237806746	3	4	98	1	0	0	0	0	1	0	0	0	13860	86	3	5	7531	5	RYR2	1	237806746	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	22007608	237806746	11443875	11	6558											
RAD51AP2	729475	broad.mit.edu	37	chr2	17692095	17692095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattttcttttaagtttccGtaacacatttgtttcagata	12	19	4	6	1	2	1	1	0	1	1	3	1	3	1	1	0	1	3	1	0	4	9			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:17692095G>A	uc002rcl.1	-	2	3480	c.3456C>T	c.(3454-3456)taC>taT	p.Y1152Y	RAD51AP2_uc010exn.1_Silent_p.Y1143Y	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1152	Interaction with RAD51.									endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTAAGTTTCCGTAACACATTT	0.338													A	17692095	G	A	17692095	2	1	98	1	0	0	0	0	0	0	0	1	13075	1140	40	1		1	RAD51AP2	2	17692095	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08		17692095	225507278	12	6559											
TMEM17	200728	broad.mit.edu	37	chr2	62728426	62728426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagtcttggaggtggaaaCgaactgccaactgattaacc	14	8	10	9	1	1	1	0	1	1	0	1	4	1	3	2	3	5	0	2	3	5	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:62728426C>T	uc002sbt.2	-	3	855	c.515G>A	c.(514-516)cGt>cAt	p.R172H	TMEM17_uc002sbu.2_3'UTR|TMEM17_uc002sbv.1_3'UTR	NM_198276	NP_938017	Q86X19	TMM17_HUMAN	Homo sapiens transmembrane protein 17 (TMEM17), mRNA.	172						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GAGGTGGAAACGAACTGCCAA	0.423													T	62728426	C	T	62728426	3	4	98	1	0	0	0	0	1	0	0	0	16185	536	19	1	85	1	TMEM17	2	62728426	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	45036331	62728426	180470947	13	6560											
TGFA	7039	broad.mit.edu	37	chr2	70683568	70683568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctggctggcagccaccaCggccaggaggtccgcatgct	6	7	13	15	2	1	0	0	0	1	0	2	1	2	1	4	5	2	4	4	5	0	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:70683568C>T	uc002sgs.4	-	3	516	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	TGFA_uc010fdq.3_Missense_Mutation_p.V96M|TGFA_uc010fdr.3_Missense_Mutation_p.V95M|TGFA_uc002sgt.4_Missense_Mutation_p.V89M|TGFA_uc002sgu.3_Missense_Mutation_p.V89M|TGFA_uc002sgv.3_Missense_Mutation_p.V90M|TGFA_uc002sgw.3_Missense_Mutation_p.V89M	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	90					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	p.V90M(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GCAGCCACCACGGCCAGGAGG	0.577													T	70683568	C	T	70683568	3	4	98	1	0	0	0	0	1	0	0	0	15915	536	19	1	226	1	TGFA	2	70683568	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	7955142	70683568	172515805	14	6561											
RGPD3	653489	broad.mit.edu	37	chr2	107040566	107040566	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatcctgttgttgactcaTcaaagtggaaaagatttttt	12	16	8	5	0	2	3	2	1	0	2	3	4	3	4	1	1	0	2	1	1	4	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr2:107040566T>A	uc010ywi.1	-	19	3914	c.3857A>T	c.(3856-3858)gAt>gTt	p.D1286V		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	1286					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGTTGACTCATCAAAGTGGAA	0.408													A	107040566	T	A	107040566	3	1	98	1	0	0	0	0	1	0	0	0	13375	1435	50	5	1435	5	RGPD3	2	107040566	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	36356998	107040566	136158807	15	6562											
MME	4311	broad.mit.edu	37	chr3	154832945	154832945	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actagaagtcgttttgaaagGttagtagagattgtgtctgt	11	15	12	3	1	1	3	0	1	1	2	2	4	1	3	0	1	0	3	0	1	5	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:154832945G>A	uc010hvr.1	+	4	569	c.358_splice	c.e4+1	p.D120_splice	MME_uc003fab.1_Splice_Site_p.D120_splice|MME_uc003fac.1_Splice_Site_p.D120_splice|MME_uc003fad.1_Splice_Site_p.D120_splice|MME_uc003fae.1_Splice_Site_p.D120_splice	NM_007289	NP_009220	P08473	NEP_HUMAN	Homo sapiens membrane metallo-endopeptidase (MME), transcript variant 2b, mRNA.	120					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GTTTTGAAAGGTTAGTAGAGA	0.378													A	154832945	G	A	154832945	5	1	98	1	0	0	0	0	0	0	1	0	9720	1275	44	2	369	2	MME	3	154832945	Splice_Site	SNP	G	TCGA-06-6388-01A-12D-1845-08		154832945	43189485	16	6563											
PLD1	5337	broad.mit.edu	37	chr3	171330189	171330189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccatttcactgtcacgctttCccagcatgctgcggtcattt	6	14	7	14	2	3	0	3	0	0	0	4	0	4	0	2	1	3	3	2	1	0	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr3:171330189C>G	uc003fhs.3	-	24	3109	c.2762G>C	c.(2761-2763)gGa>gCa	p.G921A	PLD1_uc003fht.3_Missense_Mutation_p.G883A|PLD1_uc003fhu.4_Missense_Mutation_p.G215A	NM_002662	NP_002653	Q13393	PLD1_HUMAN	Homo sapiens phospholipase D1, phosphatidylcholine-specific (PLD1), transcript variant 1, mRNA.	921	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.G921*(2)|p.L920L(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GTCACGCTTTCCCAGCATGCT	0.507													G	171330189	C	G	171330189	3	3	98	1	0	0	0	0	1	0	0	0	12122	855	30	4	474	4	PLD1	3	171330189	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	16497244	171330189	26692241	17	6564											
LPHN3	23284	broad.mit.edu	37	chr4	62452954	62452954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttggcagctttcagccGtgccccaattccaatggctg	6	12	9	14	1	1	0	1	0	0	0	2	0	2	0	5	2	3	3	5	2	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:62452954G>A	uc010ihh.3	+	1	238	c.65G>A	c.(64-66)cGt>cAt	p.R22H	LPHN3_uc003hcq.4_Missense_Mutation_p.R22H|LPHN3_uc010ihg.1_Missense_Mutation_p.R90H	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	22					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						GCTTTCAGCCGTGCCCCAATT	0.453													A	62452954	G	A	62452954	3	1	98	1	0	0	0	0	1	0	0	0	8987	1145	40	1	71	1	LPHN3	4	62452954	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		62452954	128701322	18	6565											
CXCL1	2919	broad.mit.edu	37	chr4	74735288	74735288	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctggccggcgcgcagcagGtgggtaccggcgccctgggg	3	4	20	14	6	0	0	0	0	0	0	0	0	0	0	3	7	2	4	3	7	1	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:74735288G>T	uc003hhh.2	+	1	179	c.100_splice	c.e1+1	p.G34_splice		NM_001511	NP_001502	P09341	GROA_HUMAN	Homo sapiens chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) (CXCL1), transcript variant 1, mRNA.	34					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CGCGCAGCAGGTGGGTACCGG	0.726													T	74735288	G	T	74735288	5	4	98	1	0	0	0	0	0	0	1	0	4110	1275	44	4	103	4	CXCL1	4	74735288	Splice_Site	SNP	G	TCGA-06-6388-01A-12D-1845-08	12282334	74735288	116418988	19	6566											
EPGN	255324	broad.mit.edu	37	chr4	75174232	75174232	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaaggataagagaaagaaAgttaagcaactacaggaaat	22	6	10	3	0	0	3	0	0	0	3	0	6	0	5	0	2	3	2	0	2	9	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:75174232A>T	uc003hic.1	+	0					BC016361_uc003hhv.1_Intron|EPGN_uc003hhw.3_5'UTR|EPGN_uc003hib.1_5'UTR|EPGN_uc003hhy.1_5'UTR|EPGN_uc003hhz.1_5'UTR|EPGN_uc010iin.1_5'UTR|EPGN_uc003hhx.1_Non-coding_Transcript|EPGN_uc003hia.1_5'UTR			Q6UW88	EPGN_HUMAN	Homo sapiens epithelial mitogen homolog (mouse) (EPGN), mRNA.						activation of MAPK activity|angiogenesis|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	extracellular region|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity			breast(3)|liver(1)|lung(1)|skin(1)	6			Lung(101;0.196)			AGAGAAAGAAAGTTAAGCAAC	0.363													T	75174232	A	T	75174232	1	4	98	1	0	0	0	0	0	0	0	0	5205	87	3	5		5	EPGN	4	75174232	Translation_Start_Site	SNP	A	TCGA-06-6388-01A-12D-1845-08	438944	75174232	115980044	20	6567											
PDHA2	5161	broad.mit.edu	37	chr4	96761394	96761394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgtaactcctcaaatgaCgctacatttgaaattaagaa	15	11	5	10	2	1	3	1	2	0	1	3	3	3	3	2	0	2	2	2	0	6	4	rs143281239		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:96761394C>T	uc003htr.4	+	0	156	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	31					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.D31E(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CCTCAAATGACGCTACATTTG	0.502													T	96761394	C	T	96761394	2	4	98	1	0	0	0	0	0	0	0	1	11741	535	19	1		1	PDHA2	4	96761394	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	21587162	96761394	94392882	21	6568											
PRMT10	90826	broad.mit.edu	37	chr4	148591889	148591889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtttctgttacaactaggGacactctatagaatgatttt	12	15	7	7	0	2	2	0	1	2	1	2	3	2	3	0	1	2	2	0	1	6	7			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr4:148591889G>A	uc003ilc.3	-	4	891	c.749C>T	c.(748-750)tCc>tTc	p.S250F	PRMT10_uc003ild.3_Missense_Mutation_p.S137F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	250						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACAACTAGGGACACTCTATA	0.328													A	148591889	G	A	148591889	3	1	98	1	0	0	0	0	1	0	0	0	12622	1174	41	2	1820	2	PRMT10	4	148591889	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	51830495	148591889	42562387	22	6569											
PIK3R1	5295	broad.mit.edu	37	chr5	67592121	67592121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggaagcgagatggcacttTtcttgtccgggagagcagta	10	9	15	7	2	1	2	0	0	1	2	2	5	2	3	1	3	2	3	1	3	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:67592121T>C	uc003jva.3	+	14	2517	c.1937T>C	c.(1936-1938)tTt>tCt	p.F646S	PIK3R1_uc003jvc.3_Missense_Mutation_p.F346S|PIK3R1_uc003jvd.3_Missense_Mutation_p.F376S|PIK3R1_uc003jve.3_Missense_Mutation_p.F325S|PIK3R1_uc021xzn.1_Missense_Mutation_p.F283S	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	646	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GATGGCACTTTTCTTGTCCGG	0.453			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67592121	T	C	67592121	3	2	98	1	0	0	0	0	1	0	0	0	11995	1841	64	3	2121	3	PIK3R1	5	67592121	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08		67592121	113323139	23	6570											
LNPEP	4012	broad.mit.edu	37	chr5	96320900	96320900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cataagggatgagcaatacaCcgctttatcaaatatgccta	15	10	7	9	1	1	1	1	1	0	0	1	2	1	2	2	1	3	2	2	1	7	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:96320900C>T	uc003kmv.1	+	2	1491	c.977C>T	c.(976-978)aCc>aTc	p.T326I	LNPEP_uc003kmw.1_Missense_Mutation_p.T312I	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	326					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		GAGCAATACACCGCTTTATCA	0.378													T	96320900	C	T	96320900	3	4	98	1	0	0	0	0	1	0	0	0	8925	507	18	2	987	2	LNPEP	5	96320900	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	28728779	96320900	84594360	24	6571											
FAT2	2196	broad.mit.edu	37	chr5	150925630	150925630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcataggtaacttcagagggGctcatagcagagacaaggag	14	7	13	7	0	3	2	3	0	0	2	3	4	3	3	0	4	2	3	0	4	4	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr5:150925630G>A	uc003lue.4	-	8	5071	c.5058C>T	c.(5056-5058)agC>agT	p.S1686S		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1686	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.M1685V(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCAGAGGGGCTCATAGCAG	0.443													A	150925630	G	A	150925630	2	1	98	1	0	0	0	0	0	0	0	1	5739	1194	42	2		2	FAT2	5	150925630	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	54604730	150925630	29989630	25	6572											
ENPP4	22875	broad.mit.edu	37	chr6	46107513	46107513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagagcatgttaaaaatGtttttatcacaaaaacattt	16	15	6	4	0	1	1	1	0	0	1	1	1	1	1	0	1	2	4	0	1	7	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:46107513G>A	uc003oxy.3	+	1	452	c.193G>A	c.(193-195)Gtt>Att	p.V65I		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	65						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TGTTAAAAATGTTTTTATCAC	0.363													A	46107513	G	A	46107513	3	1	98	1	0	0	0	0	1	0	0	0	5173	1377	48	2	195	2	ENPP4	6	46107513	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		46107513	125007554	26	6573											
KIF25	3834	broad.mit.edu	37	chr6	168443353	168443353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcaccgtggccatgccccGtaccggaacagcaggctcac	9	4	12	16	3	1	0	1	0	0	0	1	2	1	1	5	3	5	4	5	3	2	1	rs147561163		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr6:168443353G>A	uc003qwk.1	+	7	1204	c.942G>A	c.(940-942)ccG>ccA	p.P314P	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	314					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.P314P(2)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GCCATGCCCCGTACCGGAACA	0.652													A	168443353	G	A	168443353	2	1	98	1	0	0	0	0	0	0	0	1	8351	1132	40	1		1	KIF25	6	168443353	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	122335840	168443353	2671714	27	6574											
SDK1	221935	broad.mit.edu	37	chr7	4153898	4153898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcggggccggacgcGggagtcaggtgaggggaagg	6	4	25	6	4	1	1	1	1	0	0	1	4	1	4	1	10	1	0	1	10	1	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:4153898G>A	uc003smx.3	+	24	3954	c.3815G>A	c.(3814-3816)cGg>cAg	p.R1272Q	SDK1_uc010kso.3_Missense_Mutation_p.R548Q	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1272					cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GGCCGGACGCGGGAGTCAGGT	0.652													A	4153898	G	A	4153898	3	1	98	1	0	0	0	0	1	0	0	0	14061	1116	39	1	3913	1	SDK1	7	4153898	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		4153898	154984765	28	6575											
HGF	3082	broad.mit.edu	37	chr7	81386513	81386513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgttcttacctgtgttcGtgtggtatcatggaactcca	7	16	9	9	1	2	0	1	0	1	0	4	1	3	1	2	2	3	3	2	2	4	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr7:81386513G>A	uc003uhl.3	-	3	639	c.474C>T	c.(472-474)caC>caT	p.H158H	HGF_uc003uhm.3_Silent_p.H158H|HGF_uc003uhn.1_Silent_p.H158H|HGF_uc003uho.1_Silent_p.H158H|HGF_uc003uhp.3_Silent_p.H158H|HGF_uc022agw.1_Silent_p.H158H	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	158	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACCTGTGTTCGTGTGGTATCA	0.393													A	81386513	G	A	81386513	2	1	98	1	0	0	0	0	0	0	0	1	7140	1136	40	1		1	HGF	7	81386513	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	77232615	81386513	77752150	29	6576											
SAMD12	401474	broad.mit.edu	37	chr8	119452171	119452171	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctgggtccatagagcCaccggtttagatagcttcac	8	11	10	12	1	1	2	1	0	0	2	3	2	3	2	4	2	3	3	4	2	3	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr8:119452171C>G	uc003yom.2	-	2	351	c.222G>C	c.(220-222)gtG>gtC	p.V74V	SAMD12_uc010mda.1_Silent_p.V74V|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	74										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCCATAGAGCCACCGGTTTAG	0.428													G	119452171	C	G	119452171	2	3	98	1	0	0	0	0	0	0	0	1	13908	581	21	4		4	SAMD12	8	119452171	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		119452171	26911851	30	6577											
ADRB1	153	broad.mit.edu	37	chr10	115804336	115804336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggccagcatcgagaccCtgtgtgtcattgccctggac	7	9	12	13	2	1	2	1	1	0	1	2	4	1	3	3	2	2	1	3	2	0	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr10:115804336C>T	uc001lba.3	+	0	531	c.445C>T	c.(445-447)Ctg>Ttg	p.L149L		NM_000684	NP_000675	P08588	ADRB1_HUMAN	Homo sapiens adrenergic, beta-1-, receptor (ADRB1), mRNA.	149					positive regulation of cAMP biosynthetic process	integral to plasma membrane	alpha-2A adrenergic receptor binding|beta1-adrenergic receptor activity|protein heterodimerization activity			large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)	6		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0124)|all cancers(201;0.0298)	Acebutolol(DB01193)|Alprenolol(DB00866)|Amiodarone(DB01118)|Arbutamine(DB01102)|Atenolol(DB00335)|Betaxolol(DB00195)|Bevantolol(DB01295)|Bisoprolol(DB00612)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Desipramine(DB01151)|Dobutamine(DB00841)|Dopamine(DB00988)|Epinephrine(DB00668)|Esmolol(DB00187)|Isoetharine(DB00221)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Metoprolol(DB00264)|Nadolol(DB01203)|Norepinephrine(DB00368)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Practolol(DB01297)|Propranolol(DB00571)|Risperidone(DB00734)|Timolol(DB00373)|Ziprasidone(DB00246)	CATCGAGACCCTGTGTGTCAT	0.682													T	115804336	C	T	115804336	2	4	98	1	0	0	0	0	0	0	0	1	340	680	24	2		2	ADRB1	10	115804336	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		115804336	19730411	31	6578											
CD6	923	broad.mit.edu	37	chr11	60780934	60780934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatagagaacaaggaatctcGggagctaatgctcctcatcc	14	8	9	10	1	2	1	1	0	1	1	5	4	4	3	2	2	3	2	2	2	6	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:60780934G>A	uc001nqq.3	+	6	1415	c.1190G>A	c.(1189-1191)cGg>cAg	p.R397Q	CD6_uc009yni.3_Missense_Mutation_p.R296Q|CD6_uc009ynj.3_Missense_Mutation_p.R274Q|CD6_uc001nqp.3_Missense_Mutation_p.R397Q|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.R397Q|CD6_uc001nqt.3_Missense_Mutation_p.R397Q	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	397					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AAGGAATCTCGGGAGCTAATG	0.443													A	60780934	G	A	60780934	3	1	98	1	0	0	0	0	1	0	0	0	3058	1116	39	1	1216	1	CD6	11	60780934	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		60780934	74225582	32	6579											
PPP2R5B	5526	broad.mit.edu	37	chr11	64695622	64695622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatgtggatcaaaagtttGtcctgatggtgaagtgggga	11	12	15	3	0	1	2	1	2	0	0	2	5	2	4	1	4	0	1	1	4	4	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:64695622G>T	uc001obz.3	+	3	876	c.583G>T	c.(583-585)Gtc>Ttc	p.V195F	PPP2R5B_uc001oby.3_Missense_Mutation_p.V195F	NM_006244	NP_006235	Q15173	2A5B_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', beta (PPP2R5B), mRNA.	195					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						TCAAAAGTTTGTCCTGATGGT	0.582													T	64695622	G	T	64695622	3	4	98	1	0	0	0	0	1	0	0	0	12475	1377	48	4	597	4	PPP2R5B	11	64695622	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	3914688	64695622	70310894	33	6580											
SNX32	254122	broad.mit.edu	37	chr11	65617743	65617744	+	Splice_Site	INS	-	-	T																															tgaagcaggagctggaagcgINStgagtgccccctcctttccc																										TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:65617743_65617744insT	uc001ofr.3	+	4	501	c.374_splice	c.e4+1	p.A125_splice	SNX32_uc010rop.1_3'UTR	NM_152760	NP_689973	Q86XE0	SNX32_HUMAN	Homo sapiens sorting nexin 32 (SNX32), mRNA.	125	PX.				cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		AGCTGGAAGCGTGAGTGCCCCC	0.554													T	65617744	-	T	65617743	8	5	98	1	0	1	1	0	0	0	1	0	14996	1159	40	0	389	0	SNX32	11	65617743	Splice_Site	INS	-	TCGA-06-6388-01A-12D-1845-08	922121	65617743	69388773	34	6581											
CABP4	57010	broad.mit.edu	37	chr11	67222962	67222962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtcagaagccccctgCgggggttgtgactcccaaga	7	7	14	13	2	1	3	1	1	0	2	2	3	2	3	4	3	2	1	4	3	2	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:67222962C>T	uc001olo.3	+	0	145	c.68C>T	c.(67-69)gCg>gTg	p.A23V	GPR152_uc001olm.3_5'Flank|CABP4_uc001oln.3_Intron	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	23					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			AAGCCCCCTGCGGGGGTTGTG	0.632													T	67222962	C	T	67222962	3	4	98	1	0	0	0	0	1	0	0	0	2559	768	27	1	70	1	CABP4	11	67222962	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	1605219	67222962	67783554	35	6582											
AMOTL1	154810	broad.mit.edu	37	chr11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccattgccttgcagccGcccatgccaacttccgttcc	5	11	6	19	2	0	0	0	0	0	0	3	0	3	0	8	0	5	2	8	0	1	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr11:94554698G>A	uc001pfb.3	+	3	1294	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_uc001pfc.3_Missense_Mutation_p.R325H	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	375						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602													A	94554698	G	A	94554698	3	1	98	1	0	0	0	0	1	0	0	0	583	1087	38	1	1138	1	AMOTL1	11	94554698	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	27331736	94554698	40451818	36	6583											
IL26	55801	broad.mit.edu	37	chr12	68619233	68619233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgacttaccataaactgCttttttgttttcttttttaa	8	23	3	7	0	2	1	0	1	2	0	2	1	2	1	1	0	3	2	1	0	4	11			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr12:68619233C>G	uc001stx.1	-	1	254	c.219G>C	c.(217-219)aaG>aaC	p.K73N		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	73					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		CCATAAACTGCTTTTTTGTTT	0.274													G	68619233	C	G	68619233	3	3	98	1	0	0	0	0	1	0	0	0	7737	796	28	4	312	4	IL26	12	68619233	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		68619233	65232662	37	6584											
RCBTB1	55213	broad.mit.edu	37	chr13	50140816	50140816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttaatcttctttccaCataagccttctagctttttg	7	19	5	10	0	3	0	0	0	3	0	4	0	4	0	2	1	2	2	2	1	3	9			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:50140816C>T	uc001vde.1	-	3	476	c.215G>A	c.(214-216)tGt>tAt	p.C72Y		NM_018191	NP_060661	Q8NDN9	RCBT1_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1 (RCBTB1), mRNA.	72					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CTTCTTTCCACATAAGCCTTC	0.408													T	50140816	C	T	50140816	3	4	98	1	0	0	0	0	1	0	0	0	13259	478	17	2	1420	2	RCBTB1	13	50140816	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		50140816	65029062	38	6585											
ABCC4	10257	broad.mit.edu	37	chr13	95715080	95715080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagggctgagatgagggaacTttttccagctccggttcttc	8	12	12	9	1	1	2	0	2	1	1	4	4	3	3	2	3	2	3	2	3	2	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr13:95715080T>C	uc001vmd.4	-	25	3363	c.3244A>G	c.(3244-3246)Agt>Ggt	p.S1082G	ABCC4_uc010afj.3_5'UTR|ABCC4_uc010afk.3_Missense_Mutation_p.S1035G	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1082	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	ATGAGGGAACTTTTTCCAGCT	0.398													C	95715080	T	C	95715080	3	2	98	1	0	0	0	0	1	0	0	0	55	1609	56	3	757	3	ABCC4	13	95715080	Missense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	45574264	95715080	19454798	39	6586											
RYR3	6263	broad.mit.edu	37	chr15	33873724	33873724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggaatgttggcccttGtcttaaattgcattgaccgc	8	13	10	10	1	2	1	1	1	1	0	2	2	2	2	2	2	1	2	2	2	3	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:33873724G>T	uc001zhi.3	+	13	1523	c.1453G>T	c.(1453-1455)Gtc>Ttc	p.V485F	RYR3_uc010bar.3_Missense_Mutation_p.V485F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	485					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTGGCCCTTGTCTTAAATTG	0.438													T	33873724	G	T	33873724	3	4	98	1	0	0	0	0	1	0	0	0	13861	1377	48	4	1507	4	RYR3	15	33873724	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		33873724	68657668	40	6587											
SLTM	79811	broad.mit.edu	37	chr15	59181723	59181723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgagttcctctctttctcGagcaatccgttcagcttcct	5	16	6	14	2	4	1	1	1	3	0	9	2	7	1	3	0	2	4	3	0	1	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:59181723G>C	uc002afp.3	-	15	2198	c.2110C>G	c.(2110-2112)Cga>Gga	p.R704G	SLTM_uc002afn.3_Missense_Mutation_p.R246G|SLTM_uc002afo.3_Missense_Mutation_p.R686G|SLTM_uc002afq.3_Missense_Mutation_p.R273G|SLTM_uc010bgd.3_Missense_Mutation_p.R273G	NM_024755	NP_079031	Q9NWH9	SLTM_HUMAN	Homo sapiens SAFB-like, transcription modulator (SLTM), transcript variant 1, mRNA.	704	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTCTTTCTCGAGCAATCCGT	0.413													C	59181723	G	C	59181723	3	2	98	1	0	0	0	0	1	0	0	0	14848	1066	37	4	1018	4	SLTM	15	59181723	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	25307999	59181723	43349669	41	6588											
CYP1A2	1544	broad.mit.edu	37	chr15	75042328	75042328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccgcattggctccacGcccgtgctggtgctgagccg	5	8	13	15	4	0	2	0	1	0	1	2	2	2	2	4	2	3	4	4	2	0	1	rs17861153	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr15:75042328G>A	uc002ayr.1	+	1	313	c.249G>A	c.(247-249)acG>acA	p.T83T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	83			T -> M (in allele CYP1A2*9).		alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding	p.T83T(2)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	TTGGCTCCACGCCCGTGCTGG	0.667													A	75042328	G	A	75042328	2	1	98	1	0	0	0	0	0	0	0	1	4183	1074	38	1		1	CYP1A2	15	75042328	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	15860605	75042328	27489064	42	6589											
IL4R	3566	broad.mit.edu	37	chr16	27374339	27374339	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggagcagatcctccgcCgaaatgtcctccagcatggg	8	7	12	14	2	0	1	0	0	0	1	4	3	4	2	6	2	2	2	6	2	1	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:27374339C>T	uc002don.3	+	10	1908	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*	IL4R_uc002dop.4_Nonsense_Mutation_p.R541*|IL4R_uc010bxy.3_Nonsense_Mutation_p.R556*|IL4R_uc002doo.3_Nonsense_Mutation_p.R396*	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	556	Required for IRS1 activation and IL4- induced cell growth.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GATCCTCCGCCGAAATGTCCT	0.637													T	27374339	C	T	27374339	4	4	98	1	0	0	0	0	0	1	0	0	7756	644	23	1	1718	1	IL4R	16	27374339	Nonsense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		27374339	62980414	43	6590											
IRX6	79190	broad.mit.edu	37	chr16	55361572	55361572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccaccagtacactcaaggCctggctcaacgagcaccgca	12	4	9	16	2	2	0	2	0	0	0	2	2	2	0	4	2	3	4	4	2	3	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr16:55361572C>T	uc002ehy.3	+	3	1021	c.488C>T	c.(487-489)gCc>gTc	p.A163V	IRX6_uc002ehx.3_Missense_Mutation_p.A163V|IRX6_uc010ccb.1_Non-coding_Transcript	NM_024335	NP_077311	P78412	IRX6_HUMAN	Homo sapiens iroquois homeobox 6 (IRX6), mRNA.	163						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						ACACTCAAGGCCTGGCTCAAC	0.592													T	55361572	C	T	55361572	3	4	98	1	0	0	0	0	1	0	0	0	7906	739	26	2	502	2	IRX6	16	55361572	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	27987233	55361572	34993181	44	6591											
SOX9	6662	broad.mit.edu	37	chr17	70118954	70118954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccggattacaagtaccagCcgcggcggaggaagtcggtg	10	5	15	11	5	0	0	0	0	0	0	1	3	0	3	3	5	3	1	3	5	4	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:70118954C>T	uc002jiw.3	+	1	898	c.526C>T	c.(526-528)Ccg>Tcg	p.P176S	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	176					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CAAGTACCAGCCGCGGCGGAG	0.652													T	70118954	C	T	70118954	3	4	98	1	0	0	0	0	1	0	0	0	15052	739	26	2	532	2	SOX9	17	70118954	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08		70118954	11076256	45	6592											
OTOP3	347741	broad.mit.edu	37	chr17	72943010	72943010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctggcaggtgtgtgcGtctttgtgctcttccaaatc	4	15	12	10	1	2	0	0	0	2	0	4	0	3	0	1	2	4	4	1	2	1	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr17:72943010G>A	uc010wrr.2	+	5	1060	c.1060G>A	c.(1060-1062)Gtc>Atc	p.V354I	OTOP3_uc010wrq.2_Missense_Mutation_p.V336I	NM_178233	NP_839947	Q7RTS5	OTOP3_HUMAN	Homo sapiens otopetrin 3 (OTOP3), mRNA.	354						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					AGGTGTGTGCGTCTTTGTGCT	0.627													A	72943010	G	A	72943010	3	1	98	1	0	0	0	0	1	0	0	0	11383	1145	40	1	1082	1	OTOP3	17	72943010	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	2824056	72943010	8252200	46	6593											
EPB41L3	23136	broad.mit.edu	37	chr18	5395093	5395093	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaatgtctgcatccccCgtgatgactattcgcttctc	6	14	8	13	2	3	2	1	2	2	0	6	2	4	2	2	1	1	2	2	1	2	3	rs144676596		TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:5395093C>A	uc002kmt.1	-	20	3212	c.3126G>T	c.(3124-3126)acG>acT	p.T1042T	EPB41L3_uc010wzh.1_Silent_p.T873T|EPB41L3_uc002kmu.1_Silent_p.T820T|EPB41L3_uc010dkq.1_Silent_p.T711T|EPB41L3_uc002kms.1_Silent_p.T277T|EPB41L3_uc010wze.1_Silent_p.T347T|EPB41L3_uc010wzf.1_Silent_p.T339T|EPB41L3_uc010wzg.1_Silent_p.T314T|EPB41L3_uc010dkr.2_Silent_p.T434T	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1042	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.T1042T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CTGCATCCCCCGTGATGACTA	0.448													A	5395093	C	A	5395093	2	1	98	1	0	0	0	0	0	0	0	1	5195	639	23	4		4	EPB41L3	18	5395093	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		5395093	72682155	47	6594											
FBXO15	201456	broad.mit.edu	37	chr18	71791770	71791770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacaaggtgatgaaaatGaagatttgccataacaaaag	18	8	8	7	0	0	4	0	3	0	1	1	4	1	4	2	1	2	0	2	1	7	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr18:71791770G>C	uc002llf.2	-	6	1029	c.949C>G	c.(949-951)Cat>Gat	p.H317D	FBXO15_uc002lle.2_Missense_Mutation_p.H241D	NM_001142958	NP_689889	Q8NCQ5	FBX15_HUMAN	Homo sapiens F-box protein 15 (FBXO15), transcript variant 2, mRNA.	241										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		TGATGAAAATGAAGATTTGCC	0.328													C	71791770	G	C	71791770	3	2	98	1	0	0	0	0	1	0	0	0	5777	1290	45	4	599	4	FBXO15	18	71791770	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	66396677	71791770	6285478	48	6595											
FUT5	2527	broad.mit.edu	37	chr19	5867028	5867028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggggcttgtgggagcGtccgtacacgtccaccttga	6	8	16	11	3	0	1	0	1	0	0	2	2	2	2	3	4	2	3	3	4	1	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:5867028G>A	uc002mdo.4	-	1	880	c.709C>T	c.(709-711)Cgc>Tgc	p.R237C	FUT5_uc010duo.3_Missense_Mutation_p.R237C|FUT5_uc021uno.1_Missense_Mutation_p.R237C	NM_002034	NP_002025	Q11128	FUT5_HUMAN	Homo sapiens fucosyltransferase 5 (alpha (1,3) fucosyltransferase) (FUT5), mRNA.	237					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TTGTGGGAGCGTCCGTACACG	0.622													A	5867028	G	A	5867028	3	1	98	1	0	0	0	0	1	0	0	0	6159	1145	40	1	419	1	FUT5	19	5867028	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08		5867028	53261955	49	6596											
MUC16	94025	broad.mit.edu	37	chr19	9091524	9091524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgggctggttctttgctcGgagtgtgtcattcctctaga	5	15	13	8	1	3	1	1	0	2	1	5	3	4	2	1	3	1	3	1	3	1	4			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:9091524G>A	uc002mkp.3	-	0	495	c.291C>T	c.(289-291)tcC>tcT	p.S97S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	97	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						TTCTTTGCTCGGAGTGTGTCA	0.537													A	9091524	G	A	9091524	2	1	98	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC16	19	9091524	Silent	SNP	G	TCGA-06-6388-01A-12D-1845-08	3224496	9091524	50037459	50	6597											
LYPD4	147719	broad.mit.edu	37	chr19	42342222	42342222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagataagaccggcagaCgcgactgtaggaggcaatgg	13	4	16	8	3	0	3	0	0	0	3	0	6	0	4	1	4	0	4	1	4	3	2	rs142442476	byFrequency	TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:42342222C>T	uc002orp.1	-	3	1309	c.325G>A	c.(325-327)Gtc>Atc	p.V109I	LYPD4_uc002orq.1_Missense_Mutation_p.V74I	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	109						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GACCGGCAGACGCGACTGTAG	0.522													T	42342222	C	T	42342222	3	4	98	1	0	0	0	0	1	0	0	0	9183	536	19	1	423	1	LYPD4	19	42342222	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	33250698	42342222	16786761	51	6598											
PSG2	5670	broad.mit.edu	37	chr19	43576027	43576027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccggtgggttagagttCgcgaagcaagacaagtagag	11	8	16	6	3	0	3	0	0	0	3	1	4	0	3	1	2	2	4	1	2	5	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43576027C>T	uc002ovr.3	-	3	961	c.789G>A	c.(787-789)gcG>gcA	p.A263A	PSG4_uc010xwk.1_Intron	NM_031246	NP_112536	P11465	PSG2_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 2 (PSG2), mRNA.	263	Ig-like C2-type 2.				cell migration|female pregnancy	extracellular region		p.A263A(2)|p.A263V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GGTTAGAGTTCGCGAAGCAAG	0.443													T	43576027	C	T	43576027	2	4	98	1	0	0	0	0	0	0	0	1	12740	871	31	1		1	PSG2	19	43576027	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	1233805	43576027	15552956	52	6599											
PSG4	5672	broad.mit.edu	37	chr19	43708378	43708378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacttgggcagttgtgggCggattccagaagtttaaaag	10	11	15	5	1	0	2	0	1	0	1	1	3	1	3	1	3	0	3	1	3	3	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:43708378C>T	uc002ovy.3	-	1	192	c.90G>A	c.(88-90)ccG>ccA	p.P30P	PSG4_uc002ovz.3_Silent_p.P30P|PSG4_uc002owb.3_Silent_p.P30P	NM_002780	NP_002771	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 4 (PSG4), transcript variant 1, mRNA.	30					defense response|female pregnancy	extracellular region		p.P30P(3)		central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				CAGTTGTGGGCGGATTCCAGA	0.468													T	43708378	C	T	43708378	2	4	98	1	0	0	0	0	0	0	0	1	12742	755	27	1		1	PSG4	19	43708378	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	132351	43708378	15420605	53	6600											
NLRP4	147945	broad.mit.edu	37	chr19	56370207	56370207	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagatgtgtacaggaatTgctagttgccaattttgaaa	12	14	11	4	0	0	2	0	2	0	1	0	4	0	3	1	1	3	3	1	1	5	6			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr19:56370207T>A	uc002qmd.4	+	2	1870	c.1448T>A	c.(1447-1449)tTg>tAg	p.L483*	NLRP4_uc002qmf.3_Nonsense_Mutation_p.L408*|NLRP4_uc010etf.3_Nonsense_Mutation_p.L314*	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	483							ATP binding	p.E482K(1)|p.L483F(1)		breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTACAGGAATTGCTAGTTGCC	0.423													A	56370207	T	A	56370207	4	1	98	1	0	0	0	0	0	1	0	0	10555	1821	63	5	1454	5	NLRP4	19	56370207	Nonsense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	12661829	56370207	2758776	54	6601											
JAG1	182	broad.mit.edu	37	chr20	10644609	10644612	+	Splice_Site	DEL	ACGA	ACGA	-																															agtccacagaagcgatacttAcgaacggtgtcattactgga																										TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:10644609_10644612delACGA	uc002wnw.2	-	3	955	c.439_splice	c.e3+1	p.Q147_splice		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	147					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						AGCGATACTTACGAACGGTGTCAT	0.466									Alagille Syndrome				-	10644612	ACGA	-	10644609	8	5	98	1	0	1	0	1	0	0	1	0	7992	405	14	0	3311	0	JAG1	20	10644609	Splice_Site	DEL	ACGA	TCGA-06-6388-01A-12D-1845-08		10644609	52380911	55	6602											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493785	20493785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggagccttccacatGggcattgtcatggttctcgc	6	11	11	13	2	2	0	1	0	1	0	5	1	3	1	2	3	2	3	2	3	0	3			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:20493785G>A	uc002wrz.3	-	31	4371	c.4228C>T	c.(4228-4230)Cat>Tat	p.H1410Y	RALGAPA2_uc002wry.3_Missense_Mutation_p.H1025Y|RALGAPA2_uc010zsg.2_Missense_Mutation_p.H858Y|RALGAPA2_uc002wsa.1_Missense_Mutation_p.H182Y	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1410					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CCTTCCACATGGGCATTGTCA	0.547													A	20493785	G	A	20493785	3	1	98	1	0	0	0	0	1	0	0	0	13102	1348	47	2	1425	2	RALGAPA2	20	20493785	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	9849176	20493785	42531735	56	6603											
MYH7B	57644	broad.mit.edu	37	chr20	33584258	33584258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggccctgggtgacctgcAggccgaggaggaccgtgtga	8	5	17	11	2	0	2	0	2	0	0	0	5	0	4	4	5	1	1	4	5	0	0			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:33584258A>G	uc002xbi.2	+	28	3496	c.3179A>G	c.(3178-3180)cAg>cGg	p.Q1060R		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	1018						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGTGACCTGCAGGCCGAGGAG	0.672													G	33584258	A	G	33584258	3	3	98	1	0	0	0	0	1	0	0	0	10116	188	7	3	3285	3	MYH7B	20	33584258	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	13090473	33584258	29441262	57	6604											
NPBWR2	2832	broad.mit.edu	37	chr20	62737704	62737704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgaccttcgccccccGgtaggtgcgccagggcatgt	4	7	15	15	4	0	0	0	0	0	0	1	1	0	0	5	4	1	3	5	4	1	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chr20:62737704G>A	uc011abt.2	-	0	481	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W		NM_005286	NP_005277	P48146	NPBW2_HUMAN	Homo sapiens neuropeptides B/W receptor 2 (NPBWR2), mRNA.	161						plasma membrane	opioid receptor activity|protein binding	p.R161W(2)|p.R161Q(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					TTCGCCCCCCGGTAGGTGCGC	0.632													A	62737704	G	A	62737704	3	1	98	1	0	0	0	0	1	0	0	0	10645	1115	39	1	523	1	NPBWR2	20	62737704	Missense_Mutation	SNP	G	TCGA-06-6388-01A-12D-1845-08	29153446	62737704	287816	58	6605											
WWC3	55841	broad.mit.edu	37	chrX	10106937	10106937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgggtgcttcgggaCgagcggctccgtggcctgct	3	8	15	15	4	0	0	0	0	0	0	2	2	1	1	4	4	3	3	4	4	0	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:10106937C>T	uc004csx.4	+	20	3243	c.3045C>T	c.(3043-3045)gaC>gaT	p.D1015D	WWC3_uc010nds.3_Silent_p.D679D|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	1015										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGCTTCGGGACGAGCGGCTCC	0.711													T	10106937	C	T	10106937	2	4	98	1	0	0	0	0	0	0	0	1	17515	535	19	1		1	WWC3	23	10106937	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08		10106937	145163623	59	6606											
MAGED2	10916	broad.mit.edu	37	chrX	54841851	54841851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccctgcaactgggaCgaagctgatatcggaccctg	8	6	14	13	3	0	1	0	1	0	0	1	4	0	3	3	3	3	2	3	3	3	1			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:54841851C>T	uc004dtk.1	+	11	1651	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	MAGED2_uc004dtl.1_Silent_p.D519D|MAGED2_uc004dtm.1_Silent_p.D434D|MAGED2_uc004dtn.1_Silent_p.D519D|MAGED2_uc004dto.1_Silent_p.D493D	NM_177433	NP_957516	Q9UNF1	MAGD2_HUMAN	Homo sapiens melanoma antigen family D, 2 (MAGED2), transcript variant 2, mRNA.	519										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						GCAACTGGGACGAAGCTGATA	0.617													T	54841851	C	T	54841851	2	4	98	1	0	0	0	0	0	0	0	1	9259	535	19	1		1	MAGED2	23	54841851	Silent	SNP	C	TCGA-06-6388-01A-12D-1845-08	44734914	54841851	100428709	60	6607											
NLGN3	54413	broad.mit.edu	37	chrX	70368006	70368006	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgctacttacatccaggAgcccaacgaagactgtctct	10	9	8	14	3	1	1	0	0	1	1	4	3	2	2	2	1	4	1	2	1	4	2			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:70368006A>G	uc004dzd.2	+	1	741	c.407A>G	c.(406-408)gAg>gGg	p.E136G	NLGN3_uc004dzb.3_Missense_Mutation_p.E136G|NLGN3_uc011mps.2_Missense_Mutation_p.E136G|NLGN3_uc004dzc.3_Missense_Mutation_p.E19G|NLGN3_uc011mpr.1_Missense_Mutation_p.E136G	NM_181303	NP_851820	Q9NZ94	NLGN3_HUMAN	Homo sapiens neuroligin 3 (NLGN3), transcript variant 1, mRNA.	136					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					TACATCCAGGAGCCCAACGAA	0.612													G	70368006	A	G	70368006	3	3	98	1	0	0	0	0	1	0	0	0	10539	304	11	3	409	3	NLGN3	23	70368006	Missense_Mutation	SNP	A	TCGA-06-6388-01A-12D-1845-08	15526155	70368006	84902554	61	6608											
ATRX	546	broad.mit.edu	37	chrX	76937694	76937694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcttctcgctcaggtaaCttttcagtgccatcagatga	9	15	7	10	1	5	2	3	1	2	1	6	2	5	2	1	1	2	2	1	1	1	5			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:76937694C>A	uc004ecp.4	-	8	3286	c.3054G>T	c.(3052-3054)aaG>aaT	p.K1018N	ATRX_uc004ecq.4_Missense_Mutation_p.K980N|ATRX_uc004eco.4_Missense_Mutation_p.K803N|ATRX_uc004ecr.2_Missense_Mutation_p.K950N|ATRX_uc010nlx.1_Missense_Mutation_p.K989N|ATRX_uc010nly.1_Missense_Mutation_p.K963N	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1018					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)	GCTCAGGTAACTTTTCAGTGC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76937694	C	A	76937694	3	1	98	1	0	0	0	0	1	0	0	0	1213	564	20	4	4532	4	ATRX	23	76937694	Missense_Mutation	SNP	C	TCGA-06-6388-01A-12D-1845-08	6569688	76937694	78332866	62	6609											
STAG2	10735	broad.mit.edu	37	chrX	123205085	123205085	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttagagccattagtgtaTacccctgattcttcattgca	10	15	7	9	0	2	2	1	1	1	1	2	2	2	2	3	0	3	3	3	0	4	7			TCGA-06-6388-01A-12D-1845-08	TCGA-06-6388-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9214f8b-6684-4e29-812c-2a44963e8914	4c5eb4d1-3046-4691-99de-dd448adc1dfc	g.chrX:123205085T>A	uc004eua.3	+	24	2849	c.2445T>A	c.(2443-2445)taT>taA	p.Y815*	STAG2_uc004etz.4_Nonsense_Mutation_p.Y815*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y815*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y815*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y815*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	815					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CATTAGTGTATACCCCTGATT	0.363													A	123205085	T	A	123205085	4	1	98	1	0	0	0	0	0	1	0	0	15339	1413	49	5	2535	5	STAG2	23	123205085	Nonsense_Mutation	SNP	T	TCGA-06-6388-01A-12D-1845-08	46267391	123205085	32065475	63	6610											
C1orf172	126695	broad.mit.edu	37	chr1	27278819	27278819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgttggccgctcccacGgtcccaagcgtggaggccca	5	7	13	16	3	1	0	0	0	1	0	3	1	3	1	4	4	1	3	4	4	1	1	rs145806681	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27278819G>A	uc001bni.2	-	1	146	c.53C>T	c.(52-54)cCg>cTg	p.P18L	BC016143_uc021ojq.1_Intron	NM_152365	NP_689578	Q8NAX2	CA172_HUMAN	Homo sapiens chromosome 1 open reading frame 172 (C1orf172), mRNA.	18	Pro-rich.									NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CCGCTCCCACGGTCCCAAGCG	0.652													A	27278819	G	A	27278819	3	1	99	1	0	0	0	0	1	0	0	0	2033	1116	39	1	1155	1	C1orf172	1	27278819	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		27278819	221971802	1	6611											
AHDC1	27245	broad.mit.edu	37	chr1	27876436	27876436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcccagtcacagcgtctaCctccccccggccccgtttgc	4	9	7	21	3	2	0	1	0	1	0	4	0	4	0	7	1	3	1	7	1	1	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:27876436C>A	uc021ojw.1	-	0	2191	c.2191G>T	c.(2191-2193)Gta>Tta	p.V731L	AHDC1_uc009vsy.3_Missense_Mutation_p.V731L|AHDC1_uc009vsz.1_Missense_Mutation_p.V731L	NM_001029882	NP_001025053	Q5TGY3	AHDC1_HUMAN	Homo sapiens AT hook, DNA binding motif, containing 1 (AHDC1), mRNA.	731	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		ACAGCGTCTACCTCCCCCCGG	0.662													A	27876436	C	A	27876436	3	1	99	1	0	0	0	0	1	0	0	0	412	507	18	4	2624	4	AHDC1	1	27876436	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	597617	27876436	221374185	2	6612											
LAMC2	3918	broad.mit.edu	37	chr1	183177131	183177131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacactgatggcattcactgCgagaagtgcaagaatggctt	13	9	11	8	1	1	3	1	1	0	2	1	4	1	3	0	2	3	3	0	2	4	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:183177131C>T	uc001gqa.2	+	1	509	c.195C>T	c.(193-195)tgC>tgT	p.C65C	LAMC2_uc001gpz.4_Silent_p.C65C|LAMC2_uc010poa.2_5'UTR	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	65	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GCATTCACTGCGAGAAGTGCA	0.493													T	183177131	C	T	183177131	2	4	99	1	0	0	0	0	0	0	0	1	8674	776	27	1		1	LAMC2	1	183177131	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	155300695	183177131	66073490	3	6613											
NEK2	4751	broad.mit.edu	37	chr1	211836944	211836944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttctctttactttcccCactgaaatgaactttcttct	8	18	4	11	0	3	2	0	2	3	0	5	3	4	2	2	0	2	1	2	0	3	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:211836944C>T	uc001hir.2	-	7	1313	c.1162G>A	c.(1162-1164)Ggg>Agg	p.G388R	NEK2_uc021piq.1_Intron|NEK2_uc021pir.1_Missense_Mutation_p.G130R	NM_002497	NP_002488	P51955	NEK2_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 2 (NEK2), transcript variant 1, mRNA.	388	Interaction with PCNT.|Necessary for interaction with MAD1L1.				cell division|centrosome separation|G2/M transition of mitotic cell cycle|meiosis|protein autophosphorylation|regulation of mitosis	centrosome|condensed chromosome kinetochore|cytosol|nucleolus	ATP binding|metal ion binding|protein binding|protein phosphatase binding|protein serine/threonine kinase activity			breast(2)|stomach(1)	3				OV - Ovarian serous cystadenocarcinoma(81;0.00203)|all cancers(67;0.0339)|Epithelial(68;0.0546)		TTACTTTCCCCACTGAAATGA	0.403													T	211836944	C	T	211836944	3	4	99	1	0	0	0	0	1	0	0	0	10400	594	21	2	179	2	NEK2	1	211836944	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	28659813	211836944	37413677	4	6614											
OR2W5	441932	broad.mit.edu	37	chr1	247655038	247655038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgattcacctttgccctggGggtggctctcctcctggtgc	2	12	13	14	1	2	0	1	0	1	0	4	1	3	0	4	4	2	1	4	4	0	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:247655038G>A	uc001icz.2	+	0	669	c.609G>A	c.(607-609)ggG>ggA	p.G203G		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTTGCCCTGGGGGTGGCTCTC	0.572													A	247655038	G	A	247655038	2	1	99	1	0	0	0	0	0	0	0	1	11110	1219	43	2		2	OR2W5	1	247655038	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	35818094	247655038	1595583	5	6615											
OR2L2	26246	broad.mit.edu	37	chr1	248202130	248202130	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctatgttgacgctagcCtgcacagacacttgggtcta	9	10	10	12	1	1	2	0	1	1	1	1	2	1	2	2	1	3	4	2	1	3	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr1:248202130C>G	uc001idw.3	+	0	657	c.561C>G	c.(559-561)gcC>gcG	p.A187A	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TGACGCTAGCCTGCACAGACA	0.458													G	248202130	C	G	248202130	2	3	99	1	0	0	0	0	0	0	0	1	11083	668	24	4		4	OR2L2	1	248202130	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	547092	248202130	1048491	6	6616											
IFT172	26160	broad.mit.edu	37	chr2	27669199	27669200	+	Frame_Shift_Del	DEL	AG	AG	-																															gtgtgacgcaagagtgaaacAgaaagcctggcagccacggt																										TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:27669199_27669200delAG	uc002rku.3	-	42	4733_4734	c.4682_4683delCT	c.(4681-4683)tctfs	p.S1561fs	KRTCAP3_uc021vfd.1_3'UTR|IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1561					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					AGAGTGAAACAGAAAGCCTGGC	0.505													-	27669200	AG	-	27669199	7	5	99	1	0	1	0	1	0	0	0	0	7615	175	7	0	590	0	IFT172	2	27669199	Frame_Shift_Del	DEL	AG	TCGA-06-6389-01A-11D-1696-08		27669199	215530174	7	6617											
FABP1	2168	broad.mit.edu	37	chr2	88425819	88425819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccattctgcacgatttccGacacccccttgatatccttc	7	13	4	17	2	1	1	0	1	1	0	5	3	4	1	5	0	1	1	5	0	1	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:88425819G>A	uc002sst.2	-	1	230	c.116C>T	c.(115-117)tCg>tTg	p.S39L		NM_001443	NP_001434	P07148	FABPL_HUMAN	Homo sapiens fatty acid binding protein 1, liver (FABP1), mRNA.	39					organ morphogenesis					kidney(1)|large_intestine(1)|lung(2)|prostate(1)|stomach(1)	6						CACGATTTCCGACACCCCCTT	0.527													A	88425819	G	A	88425819	3	1	99	1	0	0	0	0	1	0	0	0	5400	1059	37	1	279	1	FABP1	2	88425819	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	60756620	88425819	154773554	8	6618											
NCAPH	23397	broad.mit.edu	37	chr2	97007486	97007486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccctgcccaggaaggcGcctctcaatattcctggcac	8	8	9	16	1	1	0	1	0	1	0	3	1	2	1	5	3	2	1	5	3	3	2	rs139287054		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:97007486G>A	uc002svz.1	+	1	210	c.126G>A	c.(124-126)gcG>gcA	p.A42A	NCAPH_uc010fhu.1_Silent_p.A18A|NCAPH_uc010fhv.1_Silent_p.A31A|NCAPH_uc010yum.1_Silent_p.A18A|NCAPH_uc010yun.1_Intron	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	42					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				CCAGGAAGGCGCCTCTCAATA	0.582													A	97007486	G	A	97007486	2	1	99	1	0	0	0	0	0	0	0	1	10285	1074	38	1		1	NCAPH	2	97007486	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	8581667	97007486	146191887	9	6619											
INHBB	3625	broad.mit.edu	37	chr2	121107075	121107075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcaggctcggctgggCgacagcaggcaccgcattcg	6	6	17	12	4	0	0	0	0	0	0	2	1	0	0	1	5	2	6	1	5	0	1	rs61737548	byFrequency	TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:121107075C>T	uc002tmn.2	+	1	895	c.849C>T	c.(847-849)ggC>ggT	p.G283G		NM_002193	NP_002184	P09529	INHBB_HUMAN	Homo sapiens inhibin, beta B (INHBB), mRNA.	283					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity	p.G283G(2)		NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				CTCGGCTGGGCGACAGCAGGC	0.642													T	121107075	C	T	121107075	2	4	99	1	0	0	0	0	0	0	0	1	7800	755	27	1		1	INHBB	2	121107075	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	24099589	121107075	122092298	10	6620											
KCNH7	90134	broad.mit.edu	37	chr2	163302846	163302846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaccaacagcaggataagCcagtcccagactgccttgaa	14	6	9	12	0	0	3	0	2	0	1	1	4	1	4	4	1	4	1	4	1	3	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:163302846C>G	uc002uch.2	-	6	1465	c.1236G>C	c.(1234-1236)tgG>tgC	p.W412C	KCNH7_uc002uci.3_Missense_Mutation_p.W405C	NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	412					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	GCAGGATAAGCCAGTCCCAGA	0.458													G	163302846	C	G	163302846	3	3	99	1	0	0	0	0	1	0	0	0	8095	740	26	4	2460	4	KCNH7	2	163302846	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	42195771	163302846	79896527	11	6621											
XIRP2	129446	broad.mit.edu	37	chr2	168103799	168103799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaacagatattcatcAggttgctgtccagaggaaca	15	8	10	8	0	2	3	2	0	0	3	3	4	3	4	1	2	3	3	1	2	4	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:168103799A>G	uc002udx.3	+	8	5986	c.5897A>G	c.(5896-5898)cAg>cGg	p.Q1966R	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.Q1791R|XIRP2_uc010fpq.3_Missense_Mutation_p.Q1744R|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1791					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GATATTCATCAGGTTGCTGTC	0.448													G	168103799	A	G	168103799	3	3	99	1	0	0	0	0	1	0	0	0	17532	188	7	3	5927	3	XIRP2	2	168103799	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	4800953	168103799	75095574	12	6622											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	99	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	41009313	209113112	34086261	13	6623											
KIF9	64147	broad.mit.edu	37	chr3	47284680	47284680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcttggaggtggaaacgtAatccaagtccttcccattca	10	11	10	10	1	2	0	1	0	1	0	5	2	5	2	3	4	1	1	3	4	3	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:47284680A>G	uc010hjp.3	-	16	2174	c.1570T>C	c.(1570-1572)Tac>Cac	p.Y524H	KIF9_uc003cqx.3_Missense_Mutation_p.Y524H|KIF9_uc003cqy.3_Intron|KIF9_uc011bat.1_Intron|FLJ39534_uc003cqw.2_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	524					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GTGGAAACGTAATCCAAGTCC	0.557													G	47284680	A	G	47284680	3	3	99	1	0	0	0	0	1	0	0	0	8368	362	13	3	826	3	KIF9	3	47284680	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08		47284680	150737750	14	6624											
CACNA2D2	9254	broad.mit.edu	37	chr3	50405101	50405101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagactcgggtgatgccacCgtctgtggcagcgaacacgg	9	6	15	11	4	1	2	0	1	1	1	2	4	1	2	2	3	3	1	2	3	2	0			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:50405101C>T	uc003daq.3	-	26	2328	c.2290G>A	c.(2290-2292)Ggt>Agt	p.G764S	CACNA2D2_uc003dap.3_Missense_Mutation_p.G757S	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	764					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GTGATGCCACCGTCTGTGGCA	0.642													T	50405101	C	T	50405101	3	4	99	1	0	0	0	0	1	0	0	0	2575	652	23	1	1220	1	CACNA2D2	3	50405101	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	3120421	50405101	147617329	15	6625											
HPS3	84343	broad.mit.edu	37	chr3	148877986	148877986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttttcatcgatcttaGtgacattgaccaaggcagca	10	12	10	9	1	2	2	1	2	1	0	3	3	2	2	1	2	1	3	1	2	2	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr3:148877986G>C	uc003ewu.1	+	10	2166	c.2026G>C	c.(2026-2028)Gtg>Ctg	p.V676L	HPS3_uc011bnq.1_Missense_Mutation_p.V511L|HPS3_uc003ewv.1_Non-coding_Transcript	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	676						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ATCGATCTTAGTGACATTGAC	0.438									Hermansky-Pudlak syndrome				C	148877986	G	C	148877986	3	2	99	1	0	0	0	0	1	0	0	0	7395	1029	36	4	2068	4	HPS3	3	148877986	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	98472885	148877986	49144444	16	6626											
IL7R	3575	broad.mit.edu	37	chr5	35871249	35871249	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacatcacacttgcaaaaGaagtatgtaaaagttttaat	19	12	5	5	0	1	1	1	0	0	1	1	1	1	1	0	0	2	4	0	0	9	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:35871249G>C	uc003jjs.3	+	3	560	c.471G>C	c.(469-471)aaG>aaC	p.K157N	IL7R_uc011coo.2_Missense_Mutation_p.K157N|IL7R_uc011cop.2_Non-coding_Transcript	NM_002185	NP_002176	P16871	IL7RA_HUMAN	Homo sapiens interleukin 7 receptor (IL7R), mRNA.	157	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTGCAAAAGAAGTATGTAA	0.378			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						C	35871249	G	C	35871249	3	2	99	1	0	0	0	0	1	0	0	0	7763	933	33	4	485	4	IL7R	5	35871249	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		35871249	145044011	17	6627											
PLCXD3	345557	broad.mit.edu	37	chr5	41382006	41382006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggtcagcaccacctgaGatataaaaaacgatcccttc	13	8	9	11	1	1	1	1	1	0	1	3	3	2	1	3	2	2	1	3	2	4	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:41382006G>T	uc003jmm.1	-	1	836	c.734C>A	c.(733-735)tCt>tAt	p.S245Y		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	245					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						CACCACCTGAGATATAAAAAA	0.483													T	41382006	G	T	41382006	3	4	99	1	0	0	0	0	1	0	0	0	12120	942	33	4	239	4	PLCXD3	5	41382006	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	5510757	41382006	139533254	18	6628											
IL17B	27190	broad.mit.edu	37	chr5	148754111	148754111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcacacagcccagacacaGgcaccgtgcctccggcaggt	9	5	11	16	2	1	1	1	0	0	1	2	1	2	1	4	3	2	3	4	3	0	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr5:148754111G>A	uc003lqo.3	-	2	414	c.364C>T	c.(364-366)Ctg>Ttg	p.L122L		NM_014443	NP_055258	Q9UHF5	IL17B_HUMAN	Homo sapiens interleukin 17B (IL17B), mRNA.	122					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGACACAGGCACCGTGCC	0.647													A	148754111	G	A	148754111	2	1	99	1	0	0	0	0	0	0	0	1	7693	991	35	2		2	IL17B	5	148754111	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	107372105	148754111	32161149	19	6629											
EHMT2	10919	broad.mit.edu	37	chr6	31847948	31847948	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggctctgctccagggcAatggcttcggctgagtgctt	6	10	14	11	2	1	2	0	1	1	1	3	2	2	2	1	4	2	6	1	4	1	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:31847948A>T	uc003nxz.1	-	27	3556	c.3546T>A	c.(3544-3546)atT>atA	p.I1182I	EHMT2_uc003nxx.1_Silent_p.I380I|EHMT2_uc003nxy.1_Silent_p.I980I|EHMT2_uc011don.1_Silent_p.I1205I|EHMT2_uc003nya.1_Silent_p.I1148I|SLC44A4_uc011dol.2_5'Flank|SLC44A4_uc010jti.3_5'Flank|SLC44A4_uc011dom.2_5'Flank	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	1182					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GCTCCAGGGCAATGGCTTCGG	0.592													T	31847948	A	T	31847948	2	4	99	1	0	0	0	0	0	0	0	1	5023	126	5	5		5	EHMT2	6	31847948	Silent	SNP	A	TCGA-06-6389-01A-11D-1696-08		31847948	139267119	20	6630											
AMD1	262	broad.mit.edu	37	chr6	111214026	111214026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgatgaatggaatgaaatCggatgtgagtagttatatat	14	14	11	2	2	0	3	0	3	0	0	2	6	0	5	0	2	0	2	0	2	7	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr6:111214026C>T	uc003puk.1	+	6	1026	c.704C>T	c.(703-705)tCg>tTg	p.S235L	AMD1_uc011eay.1_Missense_Mutation_p.S166L|AMD1_uc003pul.1_Missense_Mutation_p.S87L|AMD1_uc011eaz.1_Missense_Mutation_p.S206L|AMD1_uc011eba.1_Missense_Mutation_p.S115L	NM_001634	NP_001028231	P17707	DCAM_HUMAN	Homo sapiens adenosylmethionine decarboxylase 1 (AMD1), transcript variant 1, mRNA.	235					spermidine biosynthetic process|spermine biosynthetic process	cytosol	adenosylmethionine decarboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(2)	8		all_cancers(87;3.83e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.0522)|Epithelial(106;0.111)|all cancers(137;0.143)	S-Adenosylmethionine(DB00118)	GGAATGAAATCGGATGTGAGT	0.388													T	111214026	C	T	111214026	3	4	99	1	0	0	0	0	1	0	0	0	566	893	31	1	730	1	AMD1	6	111214026	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	79366078	111214026	59901041	21	6631											
RNF148	378925	broad.mit.edu	37	chr7	122342705	122342705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccaaatggcttttcCgtttgagtcaggaaagctaa	11	12	10	8	1	1	1	1	1	0	0	3	2	3	2	2	2	2	4	2	2	3	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr7:122342705C>T	uc003vkk.1	-	0	317	c.100G>A	c.(100-102)Gga>Aga	p.G34R	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_198085	NP_932351	Q8N7C7	RN148_HUMAN	Homo sapiens ring finger protein 148 (RNF148), mRNA.	34						integral to membrane	zinc ion binding	p.N33N(1)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						ATGGCTTTTCCGTTTGAGTCA	0.423													T	122342705	C	T	122342705	3	4	99	1	0	0	0	0	1	0	0	0	13540	661	23	1	821	1	RNF148	7	122342705	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		122342705	36795958	22	6632											
TEX15	56154	broad.mit.edu	37	chr8	30705338	30705338	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgttataagatgaaataActgtatcaatgaacatttct	16	15	5	5	0	2	3	1	2	1	1	2	3	2	3	0	0	2	2	0	0	8	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:30705338A>T	uc003xil.3	-	0	1196	c.1196T>A	c.(1195-1197)gTt>gAt	p.V399D		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	399										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AGATGAAATAACTGTATCAAT	0.333													T	30705338	A	T	30705338	3	4	99	1	0	0	0	0	1	0	0	0	15879	43	2	5	7189	5	TEX15	8	30705338	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08		30705338	115658684	23	6633											
SYBU	55638	broad.mit.edu	37	chr8	110587269	110587269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaatgcccacagaaccgtggGgaccacgggggcagccacag	11	2	15	13	2	0	1	0	0	0	1	0	3	0	2	4	4	3	1	4	4	2	0			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:110587269G>A	uc010mcp.3	-	7	2220	c.1858C>T	c.(1858-1860)Ccc>Tcc	p.P620S	SYBU_uc003yni.4_Missense_Mutation_p.P617S|SYBU_uc003ynk.4_Missense_Mutation_p.P501S|SYBU_uc003ynj.4_Missense_Mutation_p.P620S|SYBU_uc010mco.3_Missense_Mutation_p.P619S|SYBU_uc003ynl.4_Missense_Mutation_p.P619S|SYBU_uc010mcq.3_Missense_Mutation_p.P620S|SYBU_uc003yno.4_Missense_Mutation_p.P501S|SYBU_uc010mcr.3_Missense_Mutation_p.P620S|SYBU_uc003ynm.4_Missense_Mutation_p.P619S|SYBU_uc003ynn.4_Missense_Mutation_p.P619S|SYBU_uc010mcs.3_Missense_Mutation_p.P501S|SYBU_uc010mct.3_Missense_Mutation_p.P620S|SYBU_uc010mcu.3_Missense_Mutation_p.P619S|SYBU_uc003ynp.4_Missense_Mutation_p.P552S|SYBU_uc010mcv.3_Missense_Mutation_p.P620S|SYBU_uc003ynh.4_Missense_Mutation_p.P414S|SYBU_uc011lhw.2_Missense_Mutation_p.P490S	NM_001099752	NP_001093225	Q9NX95	SYBU_HUMAN	Homo sapiens syntabulin (syntaxin-interacting) (SYBU), transcript variant 5, mRNA.	620						cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						AGAACCGTGGGGACCACGGGG	0.622													A	110587269	G	A	110587269	3	1	99	1	0	0	0	0	1	0	0	0	15523	1232	43	2	137	2	SYBU	8	110587269	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	79881931	110587269	35776753	24	6634											
HAS2	3037	broad.mit.edu	37	chr8	122641322	122641322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgataggcagcgatgcaaaGggcaactgttttgttcaact	11	12	11	7	1	1	1	1	1	0	0	1	2	1	1	0	2	4	5	0	2	4	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr8:122641322G>A	uc003yph.2	-	1	797	c.259C>T	c.(259-261)Ctt>Ttt	p.L87F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	87						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			GCGATGCAAAGGGCAACTGTT	0.423													A	122641322	G	A	122641322	3	1	99	1	0	0	0	0	1	0	0	0	7017	1000	35	2	1411	2	HAS2	8	122641322	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	12054053	122641322	23722700	25	6635											
C9orf152	401546	broad.mit.edu	37	chr9	112963591	112963591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaatgcatctccaggtgCgtgtgccatggagacttggg	10	9	13	9	1	1	1	0	0	1	1	2	2	1	1	2	3	4	1	2	3	2	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:112963591C>T	uc011lwk.2	-	1	911	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_uc022blq.1_5'Flank	NM_001012993	NP_001013011	Q5JTZ5	CI152_HUMAN	Homo sapiens chromosome 9 open reading frame 152 (C9orf152), mRNA.	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587													T	112963591	C	T	112963591	2	4	99	1	0	0	0	0	0	0	0	1	2489	755	27	1		1	C9orf152	9	112963591	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08		112963591	28249840	26	6636											
FCN1	2219	broad.mit.edu	37	chr9	137801822	137801822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacttctcagcacaattcGaagaactcacatcattgtct	13	11	6	11	1	4	1	3	0	2	1	6	3	4	2	0	1	3	1	0	1	4	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr9:137801822G>A	uc004cfi.3	-	8	892	c.803C>T	c.(802-804)tCg>tTg	p.S268L		NM_002003	NP_001994	O00602	FCN1_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing) 1 (FCN1), mRNA.	268	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AGCACAATTCGAAGAACTCAC	0.488													A	137801822	G	A	137801822	3	1	99	1	0	0	0	0	1	0	0	0	5840	1059	37	1	181	1	FCN1	9	137801822	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	24838231	137801822	3411609	27	6637											
CDH23	64072	broad.mit.edu	37	chr10	73544851	73544851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggccttcttcatcaaTgccacggtagggcctagact	8	9	12	12	2	3	1	2	0	1	1	3	2	3	1	3	3	2	1	3	3	3	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:73544851T>C	uc001jrx.4	+	40	6087	c.5697T>C	c.(5695-5697)aaT>aaC	p.N1899N		NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	1902	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TCTTCATCAATGCCACGGTAG	0.597													C	73544851	T	C	73544851	2	2	99	1	0	0	0	0	0	0	0	1	3138	1461	51	3		3	CDH23	10	73544851	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		73544851	61989896	28	6638											
RGR	5995	broad.mit.edu	37	chr10	86017694	86017694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgctgctcggctggggcCcctatgccatcctgtatcta	4	11	11	15	2	1	0	0	0	1	0	3	0	2	0	4	3	3	5	4	3	3	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr10:86017694C>T	uc001kdd.1	+	5	726	c.688C>T	c.(688-690)Ccc>Tcc	p.P230S	RGR_uc001kdc.1_Missense_Mutation_p.P226S|RGR_uc001kde.1_Intron	NM_002921	NP_002912	P47804	RGR_HUMAN	Homo sapiens retinal G protein coupled receptor (RGR), transcript variant 1, mRNA.	226					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity|protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	17						CGGCTGGGGCCCCTATGCCAT	0.542													T	86017694	C	T	86017694	3	4	99	1	0	0	0	0	1	0	0	0	13380	623	22	2	710	2	RGR	10	86017694	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	12472843	86017694	49517053	29	6639											
ABCC9	10060	broad.mit.edu	37	chr12	21968799	21968799	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatctccccttcttgTggccaatgttctggaacttg	6	16	8	11	0	4	1	0	1	4	0	5	2	4	2	3	2	1	1	3	2	2	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr12:21968799T>G	uc001rfh.3	-	31	3941	c.3921A>C	c.(3919-3921)ccA>ccC	p.P1307P	ABCC9_uc001rfi.1_Silent_p.P1307P	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1307					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCCCTTCTTGTGGCCAATGTT	0.393													G	21968799	T	G	21968799	2	3	99	1	0	0	0	0	0	0	0	1	59	1683	59	5		5	ABCC9	12	21968799	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		21968799	111883096	30	6640											
CYP1A2	1544	broad.mit.edu	37	chr15	75042134	75042134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttctcctggcctctGccatcttctgcctggtattc	4	14	8	15	0	4	1	0	0	4	1	6	1	4	1	4	2	3	2	4	2	1	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr15:75042134G>A	uc002ayr.1	+	1	119	c.55G>A	c.(55-57)Gcc>Acc	p.A19T		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	19					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTGGCCTCTGCCATCTTCTG	0.587													A	75042134	G	A	75042134	3	1	99	1	0	0	0	0	1	0	0	0	4183	1319	46	2	57	2	CYP1A2	15	75042134	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		75042134	27489258	31	6641											
DNAH3	55567	broad.mit.edu	37	chr16	21080790	21080790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgccaaatttcctcccCtcttctggcatctgggctat	8	13	6	14	0	3	0	0	0	3	0	5	0	5	0	4	2	1	2	4	2	3	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:21080790C>T	uc010vbe.2	-	22	3327	c.3327G>A	c.(3325-3327)gaG>gaA	p.E1109E		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1109	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTTCCTCCCCTCTTCTGGCA	0.428													T	21080790	C	T	21080790	2	4	99	1	0	0	0	0	0	0	0	1	4642	680	24	2		2	DNAH3	16	21080790	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08		21080790	69273963	32	6642											
HYDIN	54768	broad.mit.edu	37	chr16	70977832	70977832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcggtggatgggccccggGgggagagggctggaggaaat	8	4	22	7	2	0	1	0	0	0	1	0	5	0	4	2	9	1	1	2	9	1	0			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:70977832G>A	uc002ezr.3	-	41	6700	c.6549C>T	c.(6547-6549)ccC>ccT	p.P2183P		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	2184										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGGCCCCGGGGGGAGAGGGC	0.582													A	70977832	G	A	70977832	2	1	99	1	0	0	0	0	0	0	0	1	7525	1219	43	2		2	HYDIN	16	70977832	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	49897042	70977832	19376921	33	6643											
C16orf3	750	broad.mit.edu	37	chr16	90095609	90095609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctatggggcagcctaCggggcaggctacggggcagg	7	4	20	10	2	0	0	0	0	0	0	0	0	0	0	1	9	3	6	1	9	3	3	rs76322535		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr16:90095609C>T	uc002fqk.1	-	0	701	c.142G>A	c.(142-144)Gta>Ata	p.V48I	GAS8_uc010vps.1_Intron|GAS8_uc002fqh.2_Intron|GAS8_uc010vpt.1_Intron|GAS8_uc010vpu.1_Intron|GAS8_uc010vpv.1_Intron|GAS8_uc010cjc.1_Intron|GAS8_uc002fqi.1_Intron|GAS8_uc010vpw.1_Intron|GAS8_uc002fqj.1_Intron	NM_001214	NP_001205	O95177	CP003_HUMAN	Homo sapiens chromosome 16 open reading frame 3 (C16orf3), mRNA.	48			Missing (in short isoform).							large_intestine(1)|lung(2)|prostate(1)	4		all_cancers(9;9.01e-08)|Hepatocellular(780;0.000325)|Lung NSC(15;0.0104)|all_lung(18;0.0239)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		gggcagcctacggggcaggct	0.672													T	90095609	C	T	90095609	3	4	99	1	0	0	0	0	1	0	0	0	1826	536	19	1	215	1	C16orf3	16	90095609	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	19117777	90095609	259144	34	6644											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(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	0.557		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)			C	7578190	T	C	7578190	3	2	99	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08		7578190	73617020	35	6645											
MFSD6L	162387	broad.mit.edu	37	chr17	8700984	8700984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagagccctctccatgcgGggagtggccaggtcctctac	6	8	12	15	1	3	1	1	0	2	1	5	2	4	2	4	4	3	0	4	4	1	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr17:8700984G>A	uc002glp.2	-	0	1684	c.1455C>T	c.(1453-1455)ccC>ccT	p.P485P		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	485						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						TCTCCATGCGGGGAGTGGCCA	0.607													A	8700984	G	A	8700984	2	1	99	1	0	0	0	0	0	0	0	1	9611	1219	43	2		2	MFSD6L	17	8700984	Silent	SNP	G	TCGA-06-6389-01A-11D-1696-08	1122794	8700984	72494226	36	6646											
PAK4	10298	broad.mit.edu	37	chr19	39663979	39663979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccctttaacacctaccCgagggctgacacggaccacc	9	5	9	18	3	0	1	0	1	0	0	0	3	0	2	6	3	2	1	6	3	2	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr19:39663979C>T	uc002okj.1	+	4	1087	c.626C>T	c.(625-627)cCg>cTg	p.P209L	PAK4_uc002okl.1_Missense_Mutation_p.P209L|PAK4_uc002okn.1_Missense_Mutation_p.P209L|PAK4_uc002okm.1_Intron|PAK4_uc002oko.1_Intron|PAK4_uc002okp.1_Intron	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	209	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			AACACCTACCCGAGGGCTGAC	0.701													T	39663979	C	T	39663979	3	4	99	1	0	0	0	0	1	0	0	0	11479	652	23	1	632	1	PAK4	19	39663979	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		39663979	19465004	37	6647											
SIRPB1	10326	broad.mit.edu	37	chr20	1600539	1600539	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctccccagcagtagcgTcatcagcaggaaaggactag	12	6	12	11	1	3	0	2	0	1	0	4	3	3	2	2	2	3	3	2	2	3	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:1600539T>A	uc010gai.3	-	0	151	c.52A>T	c.(52-54)Acg>Tcg	p.T18S	SIRPB1_uc002wfk.4_Missense_Mutation_p.T18S|SIRPB1_uc002wfl.4_Missense_Mutation_p.T18S	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	18					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						AGCAGTAGCGTCATCAGCAGG	0.567													A	1600539	T	A	1600539	3	1	99	1	0	0	0	0	1	0	0	0	14427	1667	58	5	2301	5	SIRPB1	20	1600539	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08		1600539	61424981	38	6648											
PLAGL2	5326	broad.mit.edu	37	chr20	30785118	30785118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcctgtgtgcaccactaGgtgccgccgtacatccttac	7	9	10	15	3	0	0	0	0	0	0	1	0	1	0	5	2	4	2	5	2	3	3			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:30785118G>C	uc002wxn.2	-	2	845	c.628C>G	c.(628-630)Cta>Gta	p.L210V		NM_002657	NP_002648	Q9UPG8	PLAL2_HUMAN	Homo sapiens pleiomorphic adenoma gene-like 2 (PLAGL2), mRNA.	210						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TGCACCACTAGGTGCCGCCGT	0.612													C	30785118	G	C	30785118	3	2	99	1	0	0	0	0	1	0	0	0	12097	991	35	4	866	4	PLAGL2	20	30785118	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	29184579	30785118	32240402	39	6649											
PPDPF	79144	broad.mit.edu	37	chr20	62153045	62153045	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaggctgacccgggtcAttggtgggccagcttctttt	5	11	12	13	1	2	1	1	1	1	0	2	1	2	1	4	4	1	2	4	4	1	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr20:62153045A>C	uc002yff.3	+	3	298	c.158A>C	c.(157-159)cAt>cCt	p.H53P		NM_024299	NP_077275	Q9H3Y8	PPDPF_HUMAN	Homo sapiens pancreatic progenitor cell differentiation and proliferation factor homolog (zebrafish) (PPDPF), mRNA.	53					cell differentiation|multicellular organismal development					kidney(1)|lung(2)|ovary(1)	4						GACCCGGGTCATTGGTGGGCC	0.637													C	62153045	A	C	62153045	3	2	99	1	0	0	0	0	1	0	0	0	12383	217	8	5	168	5	PPDPF	20	62153045	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	31367927	62153045	872475	40	6650											
C21orf91	54149	broad.mit.edu	37	chr21	19169182	19169182	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggagtaatttttcttcTggcttatgcctgaaattaaa	10	17	9	5	0	2	1	0	1	2	0	2	2	2	2	1	2	1	2	1	2	5	6			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:19169182T>C	uc002yko.4	-	2	472	c.381A>G	c.(379-381)ccA>ccG	p.P127P	C21orf91_uc002ykq.4_Silent_p.P127P|C21orf91_uc002ykp.4_Silent_p.P127P	NM_001100420	NP_001093890	Q9NYK6	EURL_HUMAN	Homo sapiens chromosome 21 open reading frame 91 (C21orf91), transcript variant 1, mRNA.	127										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		ATTTTTCTTCTGGCTTATGCC	0.383													C	19169182	T	C	19169182	2	2	99	1	0	0	0	0	0	0	0	1	2155	1567	55	3		3	C21orf91	21	19169182	Silent	SNP	T	TCGA-06-6389-01A-11D-1696-08		19169182	28960713	41	6651											
KRTAP22-1	337979	broad.mit.edu	37	chr21	31973461	31973461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctttgataacaactacCatggtggccagggctatgcc	10	10	11	10	0	0	2	0	2	0	0	0	2	0	2	3	3	5	2	3	3	4	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr21:31973461C>T	uc011add.2	+	0	22	c.22C>T	c.(22-24)Cat>Tat	p.H8Y	KRTAP6-2_uc011adc.2_5'Flank	NM_181620	NP_853651	Q3MIV0	KR221_HUMAN	Homo sapiens keratin associated protein 22-1 (KRTAP22-1), mRNA.	8						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	8						TAACAACTACCATGGTGGCCA	0.453													T	31973461	C	T	31973461	3	4	99	1	0	0	0	0	1	0	0	0	8598	594	21	2	24	2	KRTAP22-1	21	31973461	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08	12804279	31973461	16156434	42	6652											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382073	39382073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagtcaggcaggagcccGcgtgacgatcatggactatg	9	7	15	10	3	2	2	2	2	0	0	2	5	2	4	1	3	1	2	1	3	1	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:39382073G>A	uc003awo.1	+	2	485	c.431G>A	c.(430-432)cGc>cAc	p.R144H	APOBEC3B_uc011aoc.1_Intron|APOBEC3B_uc003awp.1_Missense_Mutation_p.R144H|APOBEC3B_uc003awq.1_Non-coding_Transcript	NM_004900	NP_004891	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B (APOBEC3B), mRNA.	144					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					GCAGGAGCCCGCGTGACGATC	0.587													A	39382073	G	A	39382073	3	1	99	1	0	0	0	0	1	0	0	0	793	1087	38	1	441	1	APOBEC3B	22	39382073	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08		39382073	11922493	43	6653											
CELSR1	9620	broad.mit.edu	37	chr22	46805742	46805742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctccattctgacaccGcctcccatcgcagaagttcc	7	9	8	17	2	1	2	0	1	1	1	5	2	4	2	6	1	1	2	6	1	1	2			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chr22:46805742G>A	uc003bhw.1	-	7	4969	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W	CELSR1_uc011arc.1_5'Flank	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1657	EGF-like 4; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTGACACCGCCTCCCATCG	0.622													A	46805742	G	A	46805742	3	1	99	1	0	0	0	0	1	0	0	0	3251	1086	38	1	4187	1	CELSR1	22	46805742	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	7423669	46805742	4498824	44	6654											
ACE2	59272	broad.mit.edu	37	chrX	15589843	15589843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagttgagcagtggccttaCattcatgttctttgctccta	7	16	9	9	0	2	1	1	1	1	0	3	1	3	1	2	1	3	5	2	1	3	7			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:15589843C>T	uc004cxa.1	-	12	1909	c.1741G>A	c.(1741-1743)Gta>Ata	p.V581I	ACE2_uc004cxb.2_Missense_Mutation_p.V581I	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	581					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGTGGCCTTACATTCATGTTC	0.448													T	15589843	C	T	15589843	3	4	99	1	0	0	0	0	1	0	0	0	137	478	17	2	700	2	ACE2	23	15589843	Missense_Mutation	SNP	C	TCGA-06-6389-01A-11D-1696-08		15589843	139680717	45	6655											
DMD	1756	broad.mit.edu	37	chrX	32490283	32490283	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaaatattcacagacctGcaattccccgagtctctgct	11	12	5	13	1	3	1	2	0	1	1	5	2	4	1	3	0	2	2	3	0	3	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:32490283G>C	uc004dda.1	-	21	3191	c.2947C>G	c.(2947-2949)Cag>Gag	p.Q983E	DMD_uc004dcz.2_Missense_Mutation_p.Q860E|DMD_uc004dcy.1_Missense_Mutation_p.Q979E|DMD_uc004ddb.1_Missense_Mutation_p.Q975E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	983					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCACAGACCTGCAATTCCCCG	0.388													C	32490283	G	C	32490283	3	2	99	1	0	0	0	0	1	0	0	0	4619	1328	46	4	8585	4	DMD	23	32490283	Missense_Mutation	SNP	G	TCGA-06-6389-01A-11D-1696-08	16900440	32490283	122780277	46	6656											
PHKA1	5255	broad.mit.edu	37	chrX	71843109	71843109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgtcaaaaactctgacaAtttacctgtttgaaccctaa	13	14	5	9	0	2	2	1	2	1	0	2	2	2	2	2	0	3	2	2	0	6	5			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:71843109A>G	uc004eax.4	-	17	2111	c.1810T>C	c.(1810-1812)Ttg>Ctg	p.L604L	PHKA1_uc004eay.4_Silent_p.L604L|PHKA1_uc011mqi.2_Silent_p.L604L	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	604					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AACTCTGACAATTTACCTGTT	0.383													G	71843109	A	G	71843109	2	3	99	1	0	0	0	0	0	0	0	1	11920	98	4	3		3	PHKA1	23	71843109	Silent	SNP	A	TCGA-06-6389-01A-11D-1696-08	39352826	71843109	83427451	47	6657											
P2RY10	27334	broad.mit.edu	37	chrX	78216344	78216344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccctttgcctgctctgCttctacctgaagtatctcaa	8	13	7	13	0	3	2	1	1	3	1	4	2	3	2	3	0	5	3	3	0	4	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:78216344C>T	uc022bzl.1	+	0	327	c.327C>T	c.(325-327)tgC>tgT	p.C109C	P2RY10_uc004ede.3_Silent_p.C109C|P2RY10_uc004edf.3_Silent_p.C109C	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	109						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GCCTGCTCTGCTTCTACCTGA	0.483													T	78216344	C	T	78216344	2	4	99	1	0	0	0	0	0	0	0	1	11423	805	28	2		2	P2RY10	23	78216344	Silent	SNP	C	TCGA-06-6389-01A-11D-1696-08	6373235	78216344	77054216	48	6658											
COL4A6	1288	broad.mit.edu	37	chrX	107435807	107435807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacaccaggatctccaggaTtacctggcattgtaatgaaa	13	10	9	9	0	1	1	0	1	1	0	2	3	1	3	3	3	2	3	3	3	4	4			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:107435807T>C	uc004enw.4	-	17	1182	c.1079A>G	c.(1078-1080)aAt>aGt	p.N360S	COL4A6_uc004env.4_Missense_Mutation_p.N359S|COL4A6_uc011msn.2_Missense_Mutation_p.N359S|COL4A6_uc010npk.3_Missense_Mutation_p.N359S	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	360	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						ATCTCCAGGATTACCTGGCAT	0.502									Alport syndrome with Diffuse Leiomyomatosis				C	107435807	T	C	107435807	3	2	99	1	0	0	0	0	1	0	0	0	3726	1493	52	3	4108	3	COL4A6	23	107435807	Missense_Mutation	SNP	T	TCGA-06-6389-01A-11D-1696-08	29219463	107435807	47834753	49	6659											
GABRQ	55879	broad.mit.edu	37	chrX	151820028	151820028	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccaccatcgactcacAtctgcgggataagctcccca	10	7	7	17	2	2	1	1	1	1	0	4	3	3	2	5	1	2	1	5	1	1	1			TCGA-06-6389-01A-11D-1696-08	TCGA-06-6389-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10911471-5404-42d5-817e-f9616e7dacfc	82fae444-2e87-4c4b-b657-614c55211ed6	g.chrX:151820028A>C	uc004ffp.1	+	7	961	c.941A>C	c.(940-942)cAt>cCt	p.H314P		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	314						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATCGACTCACATCTGCGGGAT	0.468													C	151820028	A	C	151820028	3	2	99	1	0	0	0	0	1	0	0	0	6227	217	8	5	971	5	GABRQ	23	151820028	Missense_Mutation	SNP	A	TCGA-06-6389-01A-11D-1696-08	44384221	151820028	3450532	50	6660											
SLC30A7	148867	broad.mit.edu	37	chr1	101379278	101379278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggcacatggccatgtcGatcattgccatagccatgaa	12	9	9	11	1	2	1	2	1	0	0	3	2	2	1	3	2	2	1	3	2	2	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:101379278G>T	uc001dtn.2	+	5	758	c.571G>T	c.(571-573)Gat>Tat	p.D191Y	SLC30A7_uc001dto.2_Missense_Mutation_p.D191Y	NM_001144884	NP_598003	Q8NEW0	ZNT7_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 7 (SLC30A7), transcript variant 2, mRNA.	191	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		TGGCCATGTCGATCATTGCCA	0.443													T	101379278	G	T	101379278	3	4	100	1	0	0	0	0	1	0	0	0	14654	1058	37	4	593	4	SLC30A7	1	101379278	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		101379278	147871343	1	6661											
NPL	80896	broad.mit.edu	37	chr1	182787959	182787959	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattagcaactgttgagTgctctggtgatgggagcaac	9	12	13	7	0	2	3	0	3	2	0	2	4	2	4	0	2	5	4	0	2	3	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:182787959T>G	uc009wyb.3	+	9	1046	c.618T>G	c.(616-618)agT>agG	p.S206R	NPL_uc010pnx.2_Intron|NPL_uc010pny.2_Non-coding_Transcript|NPL_uc001gpp.4_Missense_Mutation_p.S206R|NPL_uc021pfz.1_Missense_Mutation_p.S206R|NPL_uc009wyc.3_Intron|NPL_uc001gpo.2_Missense_Mutation_p.S187R	NM_030769	NP_110396	Q9BXD5	NPL_HUMAN	Homo sapiens N-acetylneuraminate pyruvate lyase (dihydrodipicolinate synthase) (NPL), transcript variant 1, mRNA.	206					carbohydrate metabolic process	cytoplasm	N-acetylneuraminate lyase activity			breast(1)|central_nervous_system(1)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|skin(1)|stomach(1)	15						AACTGTTGAGTGCTCTGGTGA	0.393													G	182787959	T	G	182787959	3	3	100	1	0	0	0	0	1	0	0	0	10661	1693	59	5	648	5	NPL	1	182787959	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	81408681	182787959	66462662	2	6662											
AHCTF1	25909	broad.mit.edu	37	chr1	247024397	247024397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtagtctcatcggatgtGattgaaacactgctgtttcc	10	13	10	8	1	1	2	1	2	1	0	4	3	2	3	1	2	2	3	1	2	3	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247024397G>A	uc001ibv.2	-	28	4060	c.3963C>T	c.(3961-3963)atC>atT	p.I1321I	AHCTF1_uc009xgs.1_Silent_p.I173I|AHCTF1_uc001ibw.1_Non-coding_Transcript	NM_015446	NP_056261	Q8WYP5	ELYS_HUMAN	Homo sapiens AT hook containing transcription factor 1 (AHCTF1), mRNA.	1312	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CATCGGATGTGATTGAAACAC	0.463													A	247024397	G	A	247024397	2	1	100	1	0	0	0	0	0	0	0	1	408	1280	45	2		2	AHCTF1	1	247024397	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	64236438	247024397	2226224	3	6663											
NLRP3	114548	broad.mit.edu	37	chr1	247586553	247586553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagataatgcacgtgtttCgaatcccactgtgatatgcc	10	13	8	10	2	1	2	1	1	0	1	3	3	2	2	2	0	2	2	2	0	3	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr1:247586553C>T	uc001icr.3	+	3	443	c.305C>T	c.(304-306)tCg>tTg	p.S102L	NLRP3_uc001ics.3_Missense_Mutation_p.S102L|NLRP3_uc001icu.3_Missense_Mutation_p.S102L|NLRP3_uc001icw.3_Missense_Mutation_p.S102L|NLRP3_uc001icv.3_Missense_Mutation_p.S102L|NLRP3_uc010pyw.2_Missense_Mutation_p.S100L|NLRP3_uc001ict.1_Missense_Mutation_p.S100L	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	102					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	p.S102L(2)|p.S102S(1)		NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GCACGTGTTTCGAATCCCACT	0.403													T	247586553	C	T	247586553	3	4	100	1	0	0	0	0	1	0	0	0	10554	893	31	1	311	1	NLRP3	1	247586553	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	562156	247586553	1664068	4	6664											
TTN	7273	broad.mit.edu	37	chr2	179596192	179596192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcttcagtgatttcatcGctgtcttttagccaagtcac	7	16	7	11	2	5	1	3	1	2	0	7	1	5	1	1	0	1	1	1	0	2	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr2:179596192G>A	uc021vsy.1	-	55	13794	c.13569C>T	c.(13567-13569)agC>agT	p.S4523S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.S1184S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5450	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.E4523K(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTCATCGCTGTCTTTTA	0.483													A	179596192	G	A	179596192	2	1	100	1	0	0	0	0	0	0	0	1	16837	1078	38	1		1	TTN	2	179596192	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		179596192	63603181	5	6665											
QARS	5859	broad.mit.edu	37	chr3	49142151	49142151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagtgaagagcgacagggAgtctagagccgccattgcag	11	6	15	9	2	1	3	0	1	1	2	1	5	1	4	2	1	3	2	2	1	3	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49142151A>G	uc003cvx.3	-	0	21	c.16T>C	c.(16-18)Tcc>Ccc	p.S6P	QARS_uc011bcd.2_5'Flank|QARS_uc003cvy.3_5'UTR|QARS_uc011bce.2_Missense_Mutation_p.S6P|QARS_uc011bcf.1_Missense_Mutation_p.S6P	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	6					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCGACAGGGAGTCTAGAGCC	0.602													G	49142151	A	G	49142151	3	3	100	1	0	0	0	0	1	0	0	0	12959	304	11	3	2407	3	QARS	3	49142151	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08		49142151	148880279	6	6666											
UBA7	7318	broad.mit.edu	37	chr3	49847050	49847050	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtggccaagagcccaCgccacacagtcttgccagtt	9	8	9	15	1	1	1	0	0	1	1	2	1	2	1	5	1	2	1	5	1	1	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:49847050C>T	uc003cxr.3	-	15	2184	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	671					ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAAGAGCCCACGCCACACAGT	0.547													T	49847050	C	T	49847050	2	4	100	1	0	0	0	0	0	0	0	1	16935	523	19	1		1	UBA7	3	49847050	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	704899	49847050	148175380	7	6667											
ABCC5	10057	broad.mit.edu	37	chr3	183677612	183677612	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaaccactggtttccttTtttgaattgatctaataata	11	18	6	6	0	1	3	0	3	1	0	2	3	2	3	2	1	1	1	2	1	5	8			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr3:183677612T>C	uc003fmg.3	-	16	2556	c.2391A>G	c.(2389-2391)aaA>aaG	p.K797K	ABCC5_uc011bqt.2_Silent_p.K325K|ABCC5_uc010hxl.3_Silent_p.K797K	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	797						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGTTTCCTTTTTTGAATTGA	0.363													C	183677612	T	C	183677612	2	2	100	1	0	0	0	0	0	0	0	1	56	1838	64	3		3	ABCC5	3	183677612	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	133830562	183677612	14344818	8	6668											
ZNF718	152687	broad.mit.edu	37	chr4	85691	85691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattcattccacaaacttaTactgaaaagatacgagaaat	19	10	5	7	1	1	4	1	1	0	3	2	5	2	4	1	0	3	0	1	0	7	5			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:85691T>C	uc003fzv.1	+	3	452	c.296T>C	c.(295-297)aTa>aCa	p.I99T	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_5'UTR	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		CACAAACTTATACTGAAAAGA	0.353													C	85691	T	C	85691	3	2	100	1	0	0	0	0	1	0	0	0	18221	1406	49	3		3	ZNF718	4	85691	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		85691	191068585	9	6669											
FAM193A	8603	broad.mit.edu	37	chr4	2733554	2733554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactgtctatcaactggTccaattttagcttgaaaaaa	16	12	6	7	0	2	2	1	1	1	1	3	2	3	2	1	1	2	1	1	1	8	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:2733554T>C	uc010ick.3	+	19	4235	c.4234T>C	c.(4234-4236)Tcc>Ccc	p.S1412P	FAM193A_uc003gfd.3_Missense_Mutation_p.S1212P|FAM193A_uc011bvm.2_Missense_Mutation_p.S1234P|FAM193A_uc011bvn.2_3'UTR|FAM193A_uc010icl.3_Missense_Mutation_p.S1253P|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	1253										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						TATCAACTGGTCCAATTTTAG	0.517													C	2733554	T	C	2733554	3	2	100	1	0	0	0	0	1	0	0	0	5571	1667	58	3	3700	3	FAM193A	4	2733554	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	2647863	2733554	188420722	10	6670											
PRKG2	5593	broad.mit.edu	37	chr4	82063966	82063966	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaagctcaactcttccgaaCccaccaacgcccagtgttgc	11	7	6	17	2	2	0	1	0	1	0	3	1	3	0	4	0	5	2	4	0	4	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:82063966C>A	uc003hmh.2	-	9	1402	c.1389G>T	c.(1387-1389)ggG>ggT	p.G463G	PRKG2_uc011ccf.1_Silent_p.G43G|PRKG2_uc011ccg.1_Silent_p.G43G|PRKG2_uc011cch.1_Intron	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	463	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						CTCTTCCGAACCCACCAACGC	0.428													A	82063966	C	A	82063966	2	1	100	1	0	0	0	0	0	0	0	1	12609	494	18	4		4	PRKG2	4	82063966	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	79330412	82063966	109090310	11	6671											
FAT1	2195	broad.mit.edu	37	chr4	187630082	187630082	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcactgttctaaactgctgGagaaggtcacctgccacgat	10	10	9	12	1	3	1	2	0	1	1	3	3	3	1	2	2	3	2	2	2	3	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr4:187630082G>T	uc003izf.3	-	1	1088	c.900C>A	c.(898-900)ctC>ctA	p.L300L	FAT1_uc010iso.1_Silent_p.L300L	NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	300					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TAAACTGCTGGAGAAGGTCAC	0.493										HNSCC(5;0.00058)			T	187630082	G	T	187630082	2	4	100	1	0	0	0	0	0	0	0	1	5738	1161	41	4		4	FAT1	4	187630082	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	105566116	187630082	3524194	12	6672											
GABRA6	2559	broad.mit.edu	37	chr5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtttgctttgcattcGtcttctctgcgcttatcgag	4	18	9	10	3	2	0	0	0	2	0	5	1	2	0	0	0	4	5	0	0	2	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:161119060G>A	uc003lyu.2	+	7	1278	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V314I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)			A	161119060	G	A	161119060	3	1	100	1	0	0	0	0	1	0	0	0	6217	1145	40	1	970	1	GABRA6	5	161119060	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		161119060	19796200	13	6673											
ZNF354C	30832	broad.mit.edu	37	chr5	178506220	178506220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatcatcccttctttctcatCagagaattcatactggagag	11	13	7	10	0	5	2	4	0	2	2	7	5	6	2	1	1	1	0	1	1	2	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506220C>G	uc003mju.3	+	4	902	c.787C>G	c.(787-789)Cag>Gag	p.Q263E		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCTTTCTCATCAGAGAATTCA	0.388													G	178506220	C	G	178506220	3	3	100	1	0	0	0	0	1	0	0	0	17967	827	29	4	801	4	ZNF354C	5	178506220	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	17387160	178506220	2409040	14	6674			1	20		3	3	346	C		1.872342e-07
ZNF354C	30832	broad.mit.edu	37	chr5	178506472	178506472	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcaaaacttcacaggcatCaaagaatccatacaggtgag	17	6	9	9	0	2	2	2	1	0	1	3	3	3	2	1	2	3	2	1	2	5	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506472C>G	uc003mju.3	+	4	1154	c.1039C>G	c.(1039-1041)Caa>Gaa	p.Q347E		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCACAGGCATCAAAGAATCCA	0.428													G	178506472	C	G	178506472	3	3	100	1	0	0	0	0	1	0	0	0	17967	827	29	4	1053	4	ZNF354C	5	178506472	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	252	178506472	2408788	15	6675			1	20		3	3	346	C		1.872342e-07
ZNF354C	30832	broad.mit.edu	37	chr5	178506565	178506565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgaacatcagaggtttCatactggagaacaactgtat	14	11	9	7	0	2	3	2	1	0	2	2	4	2	3	0	2	5	3	0	2	6	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr5:178506565C>A	uc003mju.3	+	4	1247	c.1132C>A	c.(1132-1134)Cat>Aat	p.H378N		NM_014594	NP_055409	Q86Y25	Z354C_HUMAN	Homo sapiens zinc finger protein 354C (ZNF354C), mRNA.	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|urinary_tract(3)	30	all_cancers(89;0.00065)|all_epithelial(37;0.000153)|Renal(175;0.000159)|Lung NSC(126;0.00175)|all_lung(126;0.00309)	all_cancers(40;0.19)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.247)		TCAGAGGTTTCATACTGGAGA	0.428													A	178506565	C	A	178506565	3	1	100	1	0	0	0	0	1	0	0	0	17967	826	29	4	1146	4	ZNF354C	5	178506565	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	93	178506565	2408695	16	6676			1	20		3	3	346	C		1.872342e-07
FTSJD2	23070	broad.mit.edu	37	chr6	37446254	37446254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacacagggcgtgatgaccgGcactttgtacccatgggcct	8	9	12	12	2	0	2	0	2	0	0	0	2	0	2	3	3	2	2	3	3	2	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr6:37446254G>A	uc003ons.3	+	21	2476	c.2223G>A	c.(2221-2223)cgG>cgA	p.R741R		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	741	Interaction with POLR2A.				mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						GTGATGACCGGCACTTTGTAC	0.587													A	37446254	G	A	37446254	2	1	100	1	0	0	0	0	0	0	0	1	6143	1190	42	2		2	FTSJD2	6	37446254	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		37446254	133668813	17	6677											
IGFBP1	3484	broad.mit.edu	37	chr7	45930223	45930223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gataatttccatctgatggcCccttctgaagaggatcattc	10	13	8	10	0	3	3	1	2	2	1	5	5	4	4	3	2	0	0	3	2	2	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:45930223C>T	uc003tnp.3	+	1	719	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_000596	NP_000587	P08833	IBP1_HUMAN	Homo sapiens insulin-like growth factor binding protein 1 (IGFBP1), mRNA.	142						extracellular space	insulin-like growth factor binding			large_intestine(2)|lung(4)	6						ATCTGATGGCCCCTTCTGAAG	0.517											OREG0018048	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45930223	C	T	45930223	2	4	100	1	0	0	0	0	0	0	0	1	7636	610	22	2		2	IGFBP1	7	45930223	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08		45930223	113208440	18	6678											
SEPT14	346288	broad.mit.edu	37	chr7	55910809	55910809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcatctatgtagtcaacTattggttggtagctaaaaaa	13	13	10	5	0	2	0	1	0	1	0	2	0	2	0	0	3	2	5	0	3	8	7			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:55910809T>C	uc003tqz.2	-	4	501	c.384A>G	c.(382-384)atA>atG	p.I128M		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	128					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGTAGTCAACTATTGGTTGGT	0.358													C	55910809	T	C	55910809	3	2	100	1	0	0	0	0	1	0	0	0	14156	1512	53	3	938	3	SEPT14	7	55910809	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	9980586	55910809	103227854	19	6679											
KIAA1324L	222223	broad.mit.edu	37	chr7	86526910	86526910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcactctcccacaggaaaTagaacgtacacccatcacag	15	5	6	15	1	2	1	1	0	1	1	3	2	2	2	2	1	3	2	2	1	4	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr7:86526910T>C	uc011kha.2	-	18	2782	c.2597A>G	c.(2596-2598)tAt>tGt	p.Y866C	KIAA1324L_uc003uie.3_Missense_Mutation_p.Y699C|KIAA1324L_uc011kgz.2_Missense_Mutation_p.Y752C|KIAA1324L_uc003uif.2_Missense_Mutation_p.Y618C	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	866						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCACAGGAAATAGAACGTACA	0.453													C	86526910	T	C	86526910	3	2	100	1	0	0	0	0	1	0	0	0	8282	1406	49	3	508	3	KIAA1324L	7	86526910	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	30616101	86526910	72611753	20	6680											
LY96	23643	broad.mit.edu	37	chr8	74941281	74941281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctacaccaacctaatTcaaattagaataaattgagt	17	12	3	9	0	2	2	2	1	0	1	3	2	3	2	3	0	2	0	3	0	8	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:74941281T>C	uc003yad.3	+	4	589	c.475T>C	c.(475-477)Tca>Cca	p.S159P	LY96_uc022awb.1_Missense_Mutation_p.S129P	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	159					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			CCAACCTAATTCAAATTAGAA	0.323													C	74941281	T	C	74941281	3	2	100	1	0	0	0	0	1	0	0	0	9173	1783	62	3	493	3	LY96	8	74941281	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		74941281	71422741	21	6681											
RUNX1T1	862	broad.mit.edu	37	chr8	93017373	93017373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcgcctcttcccgttttcGttcacatcgagaagcagctc	6	13	8	14	4	2	1	1	0	1	1	7	2	3	1	2	0	2	5	2	0	1	5			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:93017373G>A	uc022axs.1	-	5	1075	c.888C>T	c.(886-888)aaC>aaT	p.N296N	RUNX1T1_uc003yfc.2_Silent_p.N210N|RUNX1T1_uc010mam.3_Silent_p.N210N|RUNX1T1_uc003yfe.2_Silent_p.N200N|RUNX1T1_uc003yfd.3_Silent_p.N237N|RUNX1T1_uc022axo.1_Silent_p.N237N|RUNX1T1_uc010mao.3_Silent_p.N210N|RUNX1T1_uc011lgi.2_Silent_p.N248N|RUNX1T1_uc022axp.1_Silent_p.N237N|RUNX1T1_uc022axq.1_Silent_p.N237N|RUNX1T1_uc022axr.1_Silent_p.N237N|RUNX1T1_uc022axt.1_Silent_p.N237N|RUNX1T1_uc022axu.1_Silent_p.N217N|RUNX1T1_uc022axv.1_Silent_p.N237N|RUNX1T1_uc003yfb.2_Silent_p.N200N|RUNX1T1_uc003yff.1_Silent_p.N200N	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	237	Poly-Pro.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TCCCGTTTTCGTTCACATCGA	0.537													A	93017373	G	A	93017373	2	1	100	1	0	0	0	0	0	0	0	1	13838	1136	40	1		1	RUNX1T1	8	93017373	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	18076092	93017373	53346649	22	6682											
DENND3	22898	broad.mit.edu	37	chr8	142186755	142186755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaaaaatcagagtggcGtccaagaaagaagtcttcga	16	9	9	7	2	2	3	1	0	1	3	4	4	3	3	1	1	0	0	1	1	6	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:142186755G>A	uc003yvy.3	+	14	2639	c.2361G>A	c.(2359-2361)gcG>gcA	p.A787A	DENND3_uc010mep.3_Silent_p.A748A	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	787										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGAGTGGCGTCCAAGAAAG	0.483													A	142186755	G	A	142186755	2	1	100	1	0	0	0	0	0	0	0	1	4471	1132	40	1		1	DENND3	8	142186755	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	49169382	142186755	4177267	23	6683											
EPPK1	83481	broad.mit.edu	37	chr8	144945189	144945189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgaagtagccgcgccGgtaggccacgtccacgggca	8	5	14	14	6	0	1	0	1	0	0	2	2	1	1	4	3	1	3	4	3	3	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr8:144945189G>A	uc003zaa.1	-	0	2246	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	745						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCCGCGCCGGTAGGCCACG	0.652													A	144945189	G	A	144945189	3	1	100	1	0	0	0	0	1	0	0	0	5231	1115	39	1	5033	1	EPPK1	8	144945189	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	2758434	144945189	1418833	24	6684											
SH3GL2	6456	broad.mit.edu	37	chr9	17791242	17791242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagattgaacaagtgaGccagctctctgcacttgtgc	9	11	10	11	0	2	3	0	2	2	1	3	3	2	3	1	0	6	3	1	0	2	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:17791242G>A	uc003zna.3	+	6	926	c.638G>A	c.(637-639)aGc>aAc	p.S213N	SH3GL2_uc011lmy.2_Missense_Mutation_p.S166N	NM_003026	NP_003017	Q99962	SH3G2_HUMAN	Homo sapiens SH3-domain GRB2-like 2 (SH3GL2), mRNA.	213	BAR.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GAACAAGTGAGCCAGCTCTCT	0.478													A	17791242	G	A	17791242	3	1	100	1	0	0	0	0	1	0	0	0	14345	971	34	2	664	2	SH3GL2	9	17791242	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		17791242	123422189	25	6685											
CYLC2	1539	broad.mit.edu	37	chr9	105767006	105767006	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacaattaagaggagaTcgtagacaaccattatggat	18	8	10	5	1	0	4	0	0	0	4	1	7	0	5	1	2	2	1	1	2	7	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr9:105767006T>C	uc004bbs.2	+	3	280	c.210T>C	c.(208-210)gaT>gaC	p.D70D		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	70	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				TAAGAGGAGATCGTAGACAAC	0.358													C	105767006	T	C	105767006	2	2	100	1	0	0	0	0	0	0	0	1	4175	1432	50	3		3	CYLC2	9	105767006	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	87975764	105767006	35446425	26	6686											
OR9I1	219954	broad.mit.edu	37	chr11	57886023	57886023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgacctttctgaaggcgtcTtttacatctttgtttcttaa	7	18	7	9	2	4	1	0	1	4	0	4	2	4	1	1	1	1	1	1	1	3	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:57886023T>A	uc001nml.1	-	0	894	c.894A>T	c.(892-894)aaA>aaT	p.K298N	OR9Q1_uc001nmj.3_Intron	NM_001005211	NP_001005211	Q8NGQ6	OR9I1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily I, member 1 (OR9I1), mRNA.	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|liver(1)|lung(15)|pancreas(1)|skin(1)|urinary_tract(1)	23		Breast(21;0.0589)				TGAAGGCGTCTTTTACATCTT	0.438													A	57886023	T	A	57886023	3	1	100	1	0	0	0	0	1	0	0	0	11329	1606	56	5	54	5	OR9I1	11	57886023	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08		57886023	77120493	27	6687											
C11orf20	25858	broad.mit.edu	37	chr11	64070987	64070987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcatcactcaatattgCgaagcacatgccccatcgag	13	9	7	12	2	3	0	3	0	0	0	4	2	3	0	2	0	3	1	2	0	4	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:64070987C>T	uc009ypm.3	+	2	1451	c.386C>T	c.(385-387)gCg>gTg	p.A129V	KCNK4_uc001nzm.4_Non-coding_Transcript|ESRRA_uc001nzq.1_5'Flank|ESRRA_uc001nzr.1_5'Flank|ESRRA_uc001nzs.1_5'Flank	NM_001039496	NP_001034585	Q9NTU4	CK020_HUMAN	Homo sapiens chromosome 11 open reading frame 20 (C11orf20), mRNA.	129					cell differentiation|spermatogenesis	cytoplasm				kidney(1)	1						CTCAATATTGCGAAGCACATG	0.552													T	64070987	C	T	64070987	3	4	100	1	0	0	0	0	1	0	0	0	1645	768	27	1	396	1	C11orf20	11	64070987	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	6184964	64070987	70935529	28	6688											
OR10G8	219869	broad.mit.edu	37	chr11	123901241	123901243	+	In_Frame_Del	DEL	AGT	AGT	-																															ctgttgaagctgaaagacaaAgtagcacattctcagagcaa																										TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:123901241_123901243delAGT	uc001pzp.1	+	0	912_914	c.912_914delAGT	c.(910-915)aaagta>aaa	p.V305del		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGAAAGACAAAGTAGCACATTCT	0.448													-	123901243	AGT	-	123901241	7	5	100	1	0	1	0	1	0	0	0	0	10979	69	3	0	914	0	OR10G8	11	123901241	In_Frame_Del	DEL	AGT	TCGA-06-6390-01A-11D-1696-08	59830254	123901241	11105275	29	6689											
KIRREL3	84623	broad.mit.edu	37	chr11	126299112	126299112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtgctcctcaccctcccGaccagaggctggttccttgt	5	10	11	15	1	1	1	1	0	0	1	4	3	4	2	5	3	1	3	5	3	0	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr11:126299112G>A	uc001qea.3	-	14	2129	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	KIRREL3_uc001qeb.3_Missense_Mutation_p.R578W|ST3GAL4_uc001qdx.1_Intron	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	590					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	p.R590R(1)|p.R549R(1)		central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		TCACCCTCCCGACCAGAGGCT	0.488													A	126299112	G	A	126299112	3	1	100	1	0	0	0	0	1	0	0	0	8384	1057	37	1	580	1	KIRREL3	11	126299112	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	2397871	126299112	8707404	30	6690											
TAS2R20	259295	broad.mit.edu	37	chr12	11150018	11150018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacattcttctgtccacaCatttatatacgtgtgtttca	9	18	4	10	1	4	0	2	0	2	0	5	0	5	0	1	0	1	1	1	0	3	8			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:11150018C>G	uc001qzm.2	-	0	457	c.457G>C	c.(457-459)Gtg>Ctg	p.V153L	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_176889	NP_795370	P59543	T2R20_HUMAN	Homo sapiens taste receptor, type 2, member 20 (TAS2R20), mRNA.	153					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						TCTGTCCACACATTTATATAC	0.398													G	11150018	C	G	11150018	3	3	100	1	0	0	0	0	1	0	0	0	15668	478	17	4	476	4	TAS2R20	12	11150018	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		11150018	122701877	31	6691											
EPS8	2059	broad.mit.edu	37	chr12	15807133	15807133	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctgccgttcatcaccaTtgacagtataatttaagaaa	15	11	6	9	1	2	2	2	1	0	1	2	2	2	2	2	0	2	3	2	0	4	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:15807133T>C	uc009zif.3	-	12	1290	c.1196A>G	c.(1195-1197)aAt>aGt	p.N399S	EPS8_uc001rdb.3_Missense_Mutation_p.N399S|EPS8_uc009zig.3_Missense_Mutation_p.N139S|EPS8_uc010shv.2_Missense_Mutation_p.N139S	NM_004447	NP_004438	Q12929	EPS8_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 8 (EPS8), mRNA.	399	PH; second part.				cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		TTCATCACCATTGACAGTATA	0.418													C	15807133	T	C	15807133	3	2	100	1	0	0	0	0	1	0	0	0	5235	1493	52	3	1308	3	EPS8	12	15807133	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	4657115	15807133	118044762	32	6692											
PA2G4	5036	broad.mit.edu	37	chr12	56501039	56501039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtggttgatgtagctcAggtaggtggcctgcttttga	5	17	14	5	0	1	2	1	2	0	0	1	2	1	2	1	4	2	5	1	4	2	7			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:56501039A>G	uc001sjm.3	+	4	812	c.393_splice	c.e4+1	p.Q131_splice		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	131					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GATGTAGCTCAGGTAGGTGGC	0.488													G	56501039	A	G	56501039	3	3	100	1	0	0	0	0	1	0	0	0	11437	202	7	3	406	3	PA2G4	12	56501039	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	40693906	56501039	77350856	33	6693											
USP15	9958	broad.mit.edu	37	chr12	62778015	62778015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttacttgacacttccattgCccatgaaaaaagaacgcacc	14	9	6	12	1	0	3	0	2	0	1	1	3	1	3	3	0	3	2	3	0	5	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:62778015C>G	uc001src.2	+	10	1480	c.1405C>G	c.(1405-1407)Ccc>Gcc	p.P469A	USP15_uc001srb.2_Missense_Mutation_p.P440A	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	469					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACTTCCATTGCCCATGAAAAA	0.348													G	62778015	C	G	62778015	3	3	100	1	0	0	0	0	1	0	0	0	17148	739	26	4	1356	4	USP15	12	62778015	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	6276976	62778015	71073880	34	6694											
NAV3	89795	broad.mit.edu	37	chr12	78415582	78415582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggctgactcctgtaccagtCctacaaagatggacttatca	11	10	8	12	1	1	2	1	1	0	1	3	3	3	3	3	2	2	2	3	2	4	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr12:78415582C>G	uc001syp.3	+	8	2136	c.1963C>G	c.(1963-1965)Cct>Gct	p.P655A	NAV3_uc001syo.3_Missense_Mutation_p.P655A	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	655						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.S654R(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTGTACCAGTCCTACAAAGAT	0.413										HNSCC(70;0.22)			G	78415582	C	G	78415582	3	3	100	1	0	0	0	0	1	0	0	0	10261	855	30	4	1997	4	NAV3	12	78415582	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	15637567	78415582	55436313	35	6695											
TPTE2	93492	broad.mit.edu	37	chr13	20039678	20039678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttatcagaataataagtCgtagaagtcgaactaaatgt	16	13	7	5	2	2	2	1	0	1	2	4	3	2	2	0	0	1	1	0	0	9	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:20039678C>T	uc001umd.3	-	8	750	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Missense_Mutation_p.R69Q|TPTE2_uc001ume.3_Missense_Mutation_p.R103Q|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	180						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AATAATAAGTCGTAGAAGTCG	0.313													T	20039678	C	T	20039678	3	4	100	1	0	0	0	0	1	0	0	0	16532	884	31	1	1081	1	TPTE2	13	20039678	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		20039678	95130200	36	6696											
SACS	26278	broad.mit.edu	37	chr13	23908157	23908157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctggttggctgaaacagtAaactttgttcctggaagcaa	12	11	11	7	0	0	1	0	1	0	0	1	2	1	2	1	3	4	6	1	3	5	4			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:23908157A>C	uc001uon.2	-	9	10447	c.9858T>G	c.(9856-9858)ttT>ttG	p.F3286L	SACS_uc001uoo.2_Missense_Mutation_p.F3139L|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3286					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CTGAAACAGTAAACTTTGTTC	0.408													C	23908157	A	C	23908157	3	2	100	1	0	0	0	0	1	0	0	0	13895	359	13	5	3885	5	SACS	13	23908157	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	3868479	23908157	91261721	37	6697											
SPATA13	221178	broad.mit.edu	37	chr13	24871773	24871773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagtaggaccacagaCgaggtttatttgttttgtgc	8	14	11	8	2	1	1	1	0	0	1	2	3	1	2	1	2	1	3	1	2	2	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:24871773C>T	uc001upd.2	+	12	4061	c.3483C>T	c.(3481-3483)gaC>gaT	p.D1161D	SPATA13_uc001upe.3_Non-coding_Transcript|SPATA13_uc021rhg.1_Silent_p.D1161D|SPATA13_uc001upg.2_Silent_p.D536D|SPATA13_uc010tcy.1_Silent_p.D482D|SPATA13_uc010tcz.2_Silent_p.D420D|SPATA13_uc010tdb.2_Silent_p.D396D|SPATA13_uc010tda.2_Silent_p.D480D|SPATA13_uc001uph.3_Silent_p.D458D|SPATA13_uc009zzz.2_Intron|SPATA13_uc001upi.1_Silent_p.D42D	NM_153023	NP_694568	Q96N96	SPT13_HUMAN	Homo sapiens spermatogenesis associated 13 (SPATA13), transcript variant 2, mRNA.	536					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GGACCACAGACGAGGTTTATT	0.532													T	24871773	C	T	24871773	2	4	100	1	0	0	0	0	0	0	0	1	15096	535	19	1		1	SPATA13	13	24871773	Silent	SNP	C	TCGA-06-6390-01A-11D-1696-08	963616	24871773	90298105	38	6698											
SLC46A3	283537	broad.mit.edu	37	chr13	29287613	29287613	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatagacaaaagtatgaaTgtagacactagaccaggaat	19	8	8	6	0	0	4	0	1	0	3	0	5	0	5	1	1	0	2	1	1	9	5			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr13:29287613T>A	uc001usj.3	-	2	806	c.264A>T	c.(262-264)acA>acT	p.T88T	SLC46A3_uc001usg.3_Silent_p.T13T|SLC46A3_uc001usi.3_Silent_p.T88T|SLC46A3_uc001ush.3_Silent_p.T88T|SLC46A3_uc001usk.3_Silent_p.T13T	NM_001135919	NP_001129391	Q7Z3Q1	S46A3_HUMAN	Homo sapiens solute carrier family 46, member 3 (SLC46A3), transcript variant 2, mRNA.	88					transmembrane transport	integral to membrane		p.T88T(3)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		AAAGTATGAATGTAGACACTA	0.378													A	29287613	T	A	29287613	2	1	100	1	0	0	0	0	0	0	0	1	14740	1451	51	5		5	SLC46A3	13	29287613	Silent	SNP	T	TCGA-06-6390-01A-11D-1696-08	4415840	29287613	85882265	39	6699											
VPS18	57617	broad.mit.edu	37	chr15	41191638	41191638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagcacctgtgtgctccCttgaggccgagcggggccct	4	8	14	15	2	0	1	0	1	0	0	2	2	2	1	5	3	3	2	5	3	0	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:41191638C>T	uc001zne.3	+	3	961	c.622C>T	c.(622-624)Ctt>Ttt	p.L208F		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	208					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTGTGCTCCCTTGAGGCCGA	0.617													T	41191638	C	T	41191638	3	4	100	1	0	0	0	0	1	0	0	0	17296	681	24	2	636	2	VPS18	15	41191638	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		41191638	61339754	40	6700											
UBR1	197131	broad.mit.edu	37	chr15	43317593	43317593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaccttcatctttgtttTcttgttttctccttttcttc	2	27	2	10	0	5	0	1	0	4	0	7	0	5	0	2	0	1	2	2	0	1	12			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:43317593T>C	uc001zqq.3	-	23	2636	c.2570A>G	c.(2569-2571)gAa>gGa	p.E857G	UBR1_uc010udk.1_Missense_Mutation_p.E857G	NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	857					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATCTTTGTTTTCTTGTTTTCT	0.299													C	43317593	T	C	43317593	3	2	100	1	0	0	0	0	1	0	0	0	17003	1783	62	3	2775	3	UBR1	15	43317593	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	2125955	43317593	59213799	41	6701											
GABPB1	2553	broad.mit.edu	37	chr15	50593079	50593079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagagtttccaaactgaaCagcagatacacccgtttcat	15	9	7	10	1	1	4	1	1	0	3	2	4	2	4	2	0	4	3	2	0	4	3	rs147105901	byFrequency	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr15:50593079C>T	uc001zyb.3	-	5	1064	c.640G>A	c.(640-642)Gtt>Att	p.V214I	GABPB1_uc001zya.3_Missense_Mutation_p.V202I|GABPB1_uc010ufg.2_Missense_Mutation_p.V138I|GABPB1_uc001zyd.3_Missense_Mutation_p.V202I|GABPB1_uc001zye.3_Missense_Mutation_p.V214I|GABPB1_uc001zyf.3_Missense_Mutation_p.V202I|GABPB1_uc001zyc.3_Missense_Mutation_p.V202I	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	214					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						CCAAACTGAACAGCAGATACA	0.348													T	50593079	C	T	50593079	3	4	100	1	0	0	0	0	1	0	0	0	6210	478	17	2	611	2	GABPB1	15	50593079	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	7275486	50593079	51938313	42	6702											
MEFV	4210	broad.mit.edu	37	chr16	3299649	3299649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggcagccaggtgagcGgctgcctgaggcctgggggt	4	5	21	11	2	0	2	0	2	0	0	0	2	0	2	4	7	3	2	4	7	0	0			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:3299649G>A	uc002cun.1	-	2	1082	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C	MEFV_uc021tbw.1_Missense_Mutation_p.R137C|MEFV_uc021tbx.1_Intron|MEFV_uc021tby.1_Intron|MEFV_uc021tbz.1_Intron|MEFV_uc021tca.1_Intron|MEFV_uc021tcb.1_Intron	NM_000243	NP_000234	O15553	MEFV_HUMAN	Homo sapiens Mediterranean fever (MEFV), transcript variant 1, mRNA.	348					inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding	p.R348H(1)		NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CCAGGTGAGCGGCTGCCTGAG	0.657													A	3299649	G	A	3299649	3	1	100	1	0	0	0	0	1	0	0	0	9534	1116	39	1	1335	1	MEFV	16	3299649	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		3299649	87055104	43	6703											
IL21R	50615	broad.mit.edu	37	chr16	27460197	27460197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctacccagccctggacCtggatgctggcctggagccc	6	6	13	16	1	0	0	0	0	0	0	0	3	0	3	5	5	4	2	5	5	1	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr16:27460197C>A	uc002dor.2	+	9	1824	c.1276C>A	c.(1276-1278)Ctg>Atg	p.L426M	IL21R_uc002doq.2_Missense_Mutation_p.L404M|IL21R_uc002dos.2_Missense_Mutation_p.L404M|LOC283888_uc002dot.3_Non-coding_Transcript	NM_181079	NP_851565	Q9HBE5	IL21R_HUMAN	Homo sapiens interleukin 21 receptor (IL21R), transcript variant 3, mRNA.	404					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						AGCCCTGGACCTGGATGCTGG	0.632			T	BCL6	NHL								A	27460197	C	A	27460197	3	1	100	1	0	0	0	0	1	0	0	0	7729	680	24	4	1240	4	IL21R	16	27460197	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08	24160548	27460197	62894556	44	6704											
CLEC10A	10462	broad.mit.edu	37	chr17	6978469	6978469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccacctgccgtctggatgGaagtgagcacagtcctcgcc	7	9	11	14	2	1	1	0	1	1	0	4	3	3	3	5	2	2	1	5	2	1	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:6978469G>A	uc002gek.3	-	8	1158	c.855C>T	c.(853-855)ttC>ttT	p.F285F	CLEC10A_uc002gej.3_Silent_p.F261F|CLEC10A_uc010clv.2_3'UTR	NM_182906	NP_878910	Q8IUN9	CLC10_HUMAN	Homo sapiens C-type lectin domain family 10, member A (CLEC10A), transcript variant 1, mRNA.	285	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						CGTCTGGATGGAAGTGAGCAC	0.627													A	6978469	G	A	6978469	2	1	100	1	0	0	0	0	0	0	0	1	3526	1165	41	2		2	CLEC10A	17	6978469	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		6978469	74216741	45	6705											
DNAH2	146754	broad.mit.edu	37	chr17	7721011	7721011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgagaatggcatcatcGtcacccgaggcaacaggtga	12	6	11	12	2	2	2	2	2	0	1	3	4	2	2	2	3	1	2	2	3	2	0			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:7721011G>A	uc002giu.1	+	64	10167	c.10153G>A	c.(10153-10155)Gtc>Atc	p.V3385I	DNAH2_uc010cnm.1_Missense_Mutation_p.V323I	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3385	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCATCATCGTCACCCGAGG	0.597													A	7721011	G	A	7721011	3	1	100	1	0	0	0	0	1	0	0	0	4641	1145	40	1	10411	1	DNAH2	17	7721011	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	742542	7721011	73474199	46	6706											
MYO15A	51168	broad.mit.edu	37	chr17	18058720	18058720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggccaggaggccggcggGcagctgcgggtcctgcgtgc	3	5	21	12	4	0	0	0	0	0	0	1	1	1	1	3	7	4	2	3	7	0	0			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:18058720G>A	uc021trm.1	+	45	8652	c.8433G>A	c.(8431-8433)ggG>ggA	p.G2811G	MYO15A_uc021trl.1_Silent_p.G2809G|MYO15A_uc010vxi.2_Silent_p.G75G|MYO15A_uc010vxj.1_Silent_p.G10G|MYO15A_uc010vxk.1_Intron|MYO15A_uc010vxl.1_5'Flank|MYO15A_uc002gsl.3_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2811	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCGGCGGGCAGCTGCGGG	0.647													A	18058720	G	A	18058720	2	1	100	1	0	0	0	0	0	0	0	1	10139	1190	42	2		2	MYO15A	17	18058720	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	10337709	18058720	63136490	47	6707											
RNF213	57674	broad.mit.edu	37	chr17	78349658	78349658	+	Frame_Shift_Del	DEL	C	C	-																															tcccacaatgcaagcctccaCcccacgccagaggtgagtaa																										TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr17:78349658delC	uc002jyh.2	+	51	13463	c.13320delC	c.(13318-13320)cacfs	p.H4440fs	RNF213_uc021uen.1_Frame_Shift_Del_p.H4391fs|LOC100294362_uc002jyi.2_Intron	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CAAGCCTCCACCCCACGCCAG	0.473													-	78349658	C	-	78349658	7	5	100	1	0	1	0	1	0	0	0	0	13568	506	18	0	13690	0	RNF213	17	78349658	Frame_Shift_Del	DEL	C	TCGA-06-6390-01A-11D-1696-08	60290938	78349658	2845552	48	6708											
POLRMT	5442	broad.mit.edu	37	chr19	629657	629657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgaggggcagctggtcagtGagcaggcagcacttgaagaa	11	5	17	8	1	1	3	1	2	0	1	1	4	1	3	0	4	3	5	0	4	2	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:629657G>A	uc002lpf.1	-	2	761	c.705C>T	c.(703-705)ctC>ctT	p.L235L		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	235					transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|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)		GCTGGTCAGTGAGCAGGCAGC	0.662													A	629657	G	A	629657	2	1	100	1	0	0	0	0	0	0	0	1	12315	1277	45	2		2	POLRMT	19	629657	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08		629657	58499326	49	6709											
MUC16	94025	broad.mit.edu	37	chr19	9056794	9056794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatttcagtatactgtgAggctggaggccagtctgggg	8	11	16	6	0	2	1	1	1	1	0	2	3	2	3	1	6	1	2	1	6	3	3			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:9056794A>G	uc002mkp.3	-	2	30856	c.30652T>C	c.(30652-30654)Tca>Cca	p.S10218P		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10220	Ser-rich.|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						GTATACTGTGAGGCTGGAGGC	0.463													G	9056794	A	G	9056794	3	3	100	1	0	0	0	0	1	0	0	0	10049	304	11	3	13199	3	MUC16	19	9056794	Missense_Mutation	SNP	A	TCGA-06-6390-01A-11D-1696-08	8427137	9056794	50072189	50	6710											
EPS15L1	58513	broad.mit.edu	37	chr19	16528878	16528878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaacgcgaattggtcttTgcttaacttccccgtttgcc	7	14	8	12	3	1	0	0	0	1	0	2	1	2	0	3	1	5	3	3	1	3	6			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:16528878T>C	uc002ndx.3	-	10	994	c.988A>G	c.(988-990)Aaa>Gaa	p.K330E	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.K220E|EPS15L1_uc002ndz.1_Missense_Mutation_p.K330E|EPS15L1_uc010xpf.1_Missense_Mutation_p.K233E|EPS15L1_uc002nea.1_Missense_Mutation_p.K330E|EPS15L1_uc010eah.1_Missense_Mutation_p.K330E|EPS15L1_uc002neb.1_Missense_Mutation_p.K176E|EPS15L1_uc002nec.1_Missense_Mutation_p.K330E	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	330	EH 3.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						AATTGGTCTTTGCTTAACTTC	0.547											OREG0025334	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	16528878	T	C	16528878	3	2	100	1	0	0	0	0	1	0	0	0	5234	1821	63	3	1658	3	EPS15L1	19	16528878	Missense_Mutation	SNP	T	TCGA-06-6390-01A-11D-1696-08	7472084	16528878	42600105	51	6711											
USHBP1	83878	broad.mit.edu	37	chr19	17362437	17362437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggcactctgagaccGtctggctcgccccttctgag	5	9	11	16	3	3	2	0	2	3	1	5	3	3	2	3	2	1	3	3	2	0	1			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:17362437G>A	uc002nfs.1	-	11	1989	c.1876C>T	c.(1876-1878)Cgg>Tgg	p.R626W	USHBP1_uc002nfr.1_Missense_Mutation_p.R252W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R562W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	626							PDZ domain binding	p.R626W(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CTCTGAGACCGTCTGGCTCGC	0.607													A	17362437	G	A	17362437	3	1	100	1	0	0	0	0	1	0	0	0	17139	1144	40	1	243	1	USHBP1	19	17362437	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08	833559	17362437	41766546	52	6712											
MAG	4099	broad.mit.edu	37	chr19	35786610	35786610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgctttgacttcccGgatgagctgcggcccgctgt	3	10	12	16	4	0	2	0	2	0	0	1	3	1	3	4	2	3	3	4	2	0	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr19:35786610G>A	uc002nyy.2	+	3	339	c.141G>A	c.(139-141)ccG>ccA	p.P47P	MAG_uc002nyx.2_Silent_p.P47P|MAG_uc010eds.2_Silent_p.P22P|MAG_uc002nyz.2_Silent_p.P47P	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	47	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			TTGACTTCCCGGATGAGCTGC	0.642													A	35786610	G	A	35786610	2	1	100	1	0	0	0	0	0	0	0	1	9233	1103	39	1		1	MAG	19	35786610	Silent	SNP	G	TCGA-06-6390-01A-11D-1696-08	18424173	35786610	23342373	53	6713											
PRDM15	63977	broad.mit.edu	37	chr21	43246405	43246405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctctcgcttcactcgccGcactcctgaaattgccaacc	7	10	6	18	3	2	1	1	1	1	0	6	1	4	1	5	0	2	2	5	0	2	2	rs139958739	by1000genomes	TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr21:43246405G>A	uc002yzq.1	-	19	2749	c.2638C>T	c.(2638-2640)Cgg>Tgg	p.R880W	PRDM15_uc002yzo.3_Missense_Mutation_p.R551W|PRDM15_uc002yzp.3_Missense_Mutation_p.R571W|PRDM15_uc002yzr.1_Missense_Mutation_p.R571W	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	880					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TTCACTCGCCGCACTCCTGAA	0.577													A	43246405	G	A	43246405	3	1	100	1	0	0	0	0	1	0	0	0	12542	1086	38	1	1933	1	PRDM15	21	43246405	Missense_Mutation	SNP	G	TCGA-06-6390-01A-11D-1696-08		43246405	4883490	54	6714											
PIWIL3	440822	broad.mit.edu	37	chr22	25155854	25155854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgagactgtgctcctcCtcctgctcctcctcttgctg	3	14	7	17	0	1	1	0	1	1	1	6	2	6	1	6	0	3	3	6	0	0	2			TCGA-06-6390-01A-11D-1696-08	TCGA-06-6390-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04b6bde-63e0-41c9-89f7-07673f9de0f6	6c5cfe7c-84fa-4bfb-84f8-eebe7cb9bc0e	g.chr22:25155854C>T	uc003abd.1	-	2	622	c.205G>A	c.(205-207)Gga>Aga	p.G69R	PIWIL3_uc011ajx.1_5'UTR|PIWIL3_uc010gut.1_Missense_Mutation_p.G69R|PIWIL3_uc011ajy.1_5'UTR	NM_001008496	NP_001008496	Q7Z3Z3	PIWL3_HUMAN	Homo sapiens piwi-like 3 (Drosophila) (PIWIL3), transcript variant 1, mRNA.	69					cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTGCTCCTCCTCCTGCTCCT	0.582													T	25155854	C	T	25155854	3	4	100	1	0	0	0	0	1	0	0	0	12036	690	24	2	2519	2	PIWIL3	22	25155854	Missense_Mutation	SNP	C	TCGA-06-6390-01A-11D-1696-08		25155854	26148712	55	6715											
PRAMEF20	645425	broad.mit.edu	37	chr1	13743092	13743092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttacccacagggttcGtctcaggtgaggtggcccaa	8	9	12	12	1	1	1	1	1	1	0	3	1	1	1	2	4	2	2	2	4	2	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:13743092G>A	uc009voa.1	+	1	380	c.281G>A	c.(280-282)cGt>cAt	p.R94H		NM_001099852	NP_001093584	Q5VT98	PRA20_HUMAN	Homo sapiens PRAME family member 20 (PRAMEF20), mRNA.	94										endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.5e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000156)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGGGTTCGTCTCAGGTGA	0.607													A	13743092	G	A	13743092	3	1	101	1	0	0	0	0	1	0	0	0	12519	1145	40	1	1723	1	PRAMEF20	1	13743092	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		13743092	235507529	1	6716											
HTR1D	3352	broad.mit.edu	37	chr1	23520158	23520158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcaccagacagtccgaCatctcctcctgggccttggc	6	10	10	15	1	2	1	1	0	1	1	5	2	4	1	5	2	0	1	5	2	0	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:23520158C>T	uc001bgn.3	-	0	1065	c.555G>A	c.(553-555)atG>atA	p.M185I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	185					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GACAGTCCGACATCTCCTCCT	0.592													T	23520158	C	T	23520158	3	4	101	1	0	0	0	0	1	0	0	0	7496	478	17	2	582	2	HTR1D	1	23520158	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	9777066	23520158	225730463	2	6717											
MTF1	4520	broad.mit.edu	37	chr1	38305766	38305766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgagtcttctggtgggttCgcaggttgcctgctgtgctg	2	14	17	8	1	2	1	0	1	2	0	3	1	2	1	1	4	3	5	1	4	0	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:38305766C>T	uc001cce.1	-	2	614	c.473G>A	c.(472-474)cGa>cAa	p.R158Q	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	158						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGTGGGTTCGCAGGTTGCC	0.527													T	38305766	C	T	38305766	3	4	101	1	0	0	0	0	1	0	0	0	9998	884	31	1	1824	1	MTF1	1	38305766	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	14785608	38305766	210944855	3	6718											
IL12RB2	3595	broad.mit.edu	37	chr1	67861543	67861543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccagcctgtccctggaCggtgctcccagcaggtgacc	8	6	11	16	1	0	1	0	1	0	0	2	2	2	2	5	3	4	2	5	3	1	0	rs141507006		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:67861543C>T	uc001ddu.3	+	15	3000	c.2360C>T	c.(2359-2361)aCg>aTg	p.T787M	IL12RB2_uc010oqi.2_3'UTR|IL12RB2_uc010oqj.2_3'UTR|IL12RB2_uc010oqk.2_Non-coding_Transcript|IL12RB2_uc010oql.2_Missense_Mutation_p.T701M|IL12RB2_uc010oqm.2_3'UTR|IL12RB2_uc010oqn.2_Non-coding_Transcript	NM_001559	NP_001550	Q99665	I12R2_HUMAN	Homo sapiens interleukin 12 receptor, beta 2 (IL12RB2), mRNA.	787					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity	p.T787T(1)		breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						TGTCCCTGGACGGTGCTCCCA	0.582													T	67861543	C	T	67861543	3	4	101	1	0	0	0	0	1	0	0	0	7685	536	19	1	2418	1	IL12RB2	1	67861543	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	29555777	67861543	181389078	4	6719											
LRRC8D	55144	broad.mit.edu	37	chr1	90400304	90400304	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcctgggtgtatttgctCaaaaaccttcgagagttgta	9	13	10	9	1	1	1	1	0	0	1	2	2	1	1	3	1	3	4	3	1	4	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:90400304C>G	uc021opq.1	+	0	1677	c.1677C>G	c.(1675-1677)ctC>ctG	p.L559L	LRRC8D_uc001dnm.3_Silent_p.L559L|LRRC8D_uc001dnn.3_Silent_p.L559L	NM_018103	NP_060573	Q7L1W4	LRC8D_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member D (LRRC8D), transcript variant 2, mRNA.	559						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		TGTATTTGCTCAAAAACCTTC	0.418													G	90400304	C	G	90400304	2	3	101	1	0	0	0	0	0	0	0	1	9094	813	29	4		4	LRRC8D	1	90400304	Silent	SNP	C	TCGA-06-6391-01A-11D-1696-08	22538761	90400304	158850317	5	6720											
C1orf85	112770	broad.mit.edu	37	chr1	156264001	156264001	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgagggggttgggctggTcggctggacctggaaaaggc	7	6	21	7	2	0	0	0	0	0	0	1	3	0	2	1	9	0	3	1	9	2	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156264001T>A	uc001foh.3	-	3	619	c.606A>T	c.(604-606)cgA>cgT	p.R202R	C1orf85_uc001fof.4_5'Flank	NM_144580	NP_653181	Q8WWB7	NCUG1_HUMAN	Homo sapiens chromosome 1 open reading frame 85 (C1orf85), mRNA.	202					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					GTTGGGCTGGTCGGCTGGACC	0.592													A	156264001	T	A	156264001	2	1	101	1	0	0	0	0	0	0	0	1	2083	1654	58	5		5	C1orf85	1	156264001	Silent	SNP	T	TCGA-06-6391-01A-11D-1696-08	65863697	156264001	92986620	6	6721											
NTRK1	4914	broad.mit.edu	37	chr1	156841494	156841494	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaagaacgtgacgtgctGggcagagaacgatgtgggcc	11	5	17	8	3	0	3	0	1	0	2	0	6	0	4	1	3	3	2	1	3	3	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:156841494G>A	uc001fqh.1	+	6	853	c.797G>A	c.(796-798)tGg>tAg	p.W266*	NTRK1_uc001fqf.1_Nonsense_Mutation_p.W236*|NTRK1_uc009wsi.1_Intron|NTRK1_uc001fqi.1_Nonsense_Mutation_p.W266*|NTRK1_uc009wsk.1_Nonsense_Mutation_p.W266*	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	266	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GTGACGTGCTGGGCAGAGAAC	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			A	156841494	G	A	156841494	4	1	101	1	0	0	0	0	0	1	0	0	10782	1357	47	2	953	2	NTRK1	1	156841494	Nonsense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	577493	156841494	92409127	7	6722											
SIPA1L2	57568	broad.mit.edu	37	chr1	232574923	232574923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cactgccggcggagatggtgGacgcgtagccatgcacagaa	10	5	15	11	4	0	2	0	0	0	2	0	4	0	3	2	4	3	2	2	4	2	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr1:232574923G>A	uc001hvg.3	-	12	4120	c.3962C>T	c.(3961-3963)tCc>tTc	p.S1321F	SIPA1L2_uc001hvf.3_Missense_Mutation_p.S395F	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1321	Ser-rich.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGAGATGGTGGACGCGTAGCC	0.602													A	232574923	G	A	232574923	3	1	101	1	0	0	0	0	1	0	0	0	14424	1174	41	2	1242	2	SIPA1L2	1	232574923	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	75733429	232574923	16675698	8	6723											
APOB	338	broad.mit.edu	37	chr2	21229086	21229086	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttggagtgtggcttctcCagcaaaattttcttttactt	7	17	9	8	1	2	0	0	0	2	0	3	1	2	1	1	2	2	3	1	2	3	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21229086C>G	uc002red.3	-	25	10782	c.10654G>C	c.(10654-10656)Gga>Cga	p.G3552R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3552					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTGGCTTCTCCAGCAAAATTT	0.443													G	21229086	C	G	21229086	3	3	101	1	0	0	0	0	1	0	0	0	788	603	21	4	3053	4	APOB	2	21229086	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		21229086	221970287	9	6724											
APOB	338	broad.mit.edu	37	chr2	21245793	21245793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacatgagcctccagacccGactcgtggaagaagttggtg	11	7	12	11	2	0	3	0	1	0	2	2	5	1	4	3	2	2	1	3	2	3	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:21245793G>A	uc002red.3	-	17	2854	c.2726C>T	c.(2725-2727)tCg>tTg	p.S909L		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	909	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCAGACCCGACTCGTGGAA	0.498													A	21245793	G	A	21245793	3	1	101	1	0	0	0	0	1	0	0	0	788	1059	37	1	11013	1	APOB	2	21245793	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	16707	21245793	221953580	10	6725											
NEB	4703	broad.mit.edu	37	chr2	152476016	152476016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgatgtcattctggtcGggcaggcagatccattcatg	9	12	12	8	1	3	3	2	2	1	1	5	3	4	3	1	3	0	2	1	3	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:152476016G>A	uc021vrb.1	-	67	10121	c.10092C>T	c.(10090-10092)ccC>ccT	p.P3364P	NEB_uc002txu.3_Silent_p.P3607P|NEB_uc021vrc.1_Silent_p.P3607P|NEB_uc010fnx.3_Silent_p.P3352P|NEB_uc021vrd.1_Silent_p.P3364P	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3364					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATTCTGGTCGGGCAGGCAGA	0.483													A	152476016	G	A	152476016	2	1	101	1	0	0	0	0	0	0	0	1	10378	1103	39	1		1	NEB	2	152476016	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	131230223	152476016	90723357	11	6726											
ZNF142	7701	broad.mit.edu	37	chr2	219509392	219509392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgttgggccctgcatggccCcttctggctcctggcttgca	2	12	13	14	0	1	0	0	0	1	0	2	0	2	0	4	4	2	5	4	4	0	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:219509392C>T	uc002vin.3	-	7	2283	c.1847G>A	c.(1846-1848)gGg>gAg	p.G616E	ZNF142_uc002vil.3_Missense_Mutation_p.G577E|ZNF142_uc010fvt.3_Missense_Mutation_p.G453E|ZNF142_uc002vim.3_Missense_Mutation_p.G453E	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	616					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W616L(1)		breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CTGCATGGCCCCTTCTGGCTC	0.607													T	219509392	C	T	219509392	3	4	101	1	0	0	0	0	1	0	0	0	17832	623	22	2	3228	2	ZNF142	2	219509392	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	67033376	219509392	23689981	12	6727											
ASB18	401036	broad.mit.edu	37	chr2	237103656	237103656	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgctgcaggcagcgtggGgtgagggccaaggcaaagag	11	4	19	7	1	0	3	0	1	0	2	0	3	0	3	1	5	3	4	1	5	2	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr2:237103656G>A	uc010znh.2	-	5	1260	c.1260C>T	c.(1258-1260)acC>acT	p.T420T		NM_212556	NP_997721	Q6ZVZ8	ASB18_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 18 (ASB18), mRNA.	420	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(3)|ovary(1)|prostate(1)	6		all_hematologic(139;0.00615)|Renal(207;0.00963)|Breast(86;0.0126)|Acute lymphoblastic leukemia(138;0.0815)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)|GBM - Glioblastoma multiforme(43;0.244)		GGCAGCGTGGGGTGAGGGCCA	0.557													A	237103656	G	A	237103656	2	1	101	1	0	0	0	0	0	0	0	1	1027	1219	43	2		2	ASB18	2	237103656	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	17594264	237103656	6095717	13	6728											
SCN10A	6336	broad.mit.edu	37	chr3	38743393	38743393	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatttgtgaagtagtactGcctcaaagcgaacatcttca	12	11	8	10	1	3	1	2	1	1	0	3	2	3	1	2	0	4	2	2	0	5	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:38743393G>A	uc003ciq.3	-	25	4594	c.4594C>T	c.(4594-4596)Cag>Tag	p.Q1532*		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1532					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AAGTAGTACTGCCTCAAAGCG	0.483													A	38743393	G	A	38743393	4	1	101	1	0	0	0	0	0	1	0	0	14005	1328	46	2	1284	2	SCN10A	3	38743393	Nonsense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		38743393	159279037	14	6729											
CCR5	1234	broad.mit.edu	37	chr3	46414869	46414869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtggtggctgtgtttgCgtctctcccaggaatcatct	4	15	13	9	1	3	0	1	0	2	0	5	1	4	1	1	4	1	2	1	4	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:46414869C>T	uc003cpo.4	+	2	598	c.476C>T	c.(475-477)gCg>gTg	p.A159V	CCR5_uc010hjd.3_Missense_Mutation_p.A159V|CCR5_uc021wxb.1_Missense_Mutation_p.A159V	NM_001100168	NP_001093638	P51681	CCR5_HUMAN	Homo sapiens chemokine (C-C motif) receptor 5 (gene/pseudogene) (CCR5), transcript variant B, mRNA.	159					cell-cell signaling|cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|immune response|inflammatory response|initiation of viral infection	endosome|external side of plasma membrane|integral to plasma membrane	actin binding|C-C chemokine receptor activity|coreceptor activity|phosphatidylinositol phospholipase C activity			central_nervous_system(1)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00112)|KIRC - Kidney renal clear cell carcinoma(197;0.017)|Kidney(197;0.02)	Maraviroc(DB04835)	GCTGTGTTTGCGTCTCTCCCA	0.468													T	46414869	C	T	46414869	3	4	101	1	0	0	0	0	1	0	0	0	2974	768	27	1	478	1	CCR5	3	46414869	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	7671476	46414869	151607561	15	6730											
SEMA3G	56920	broad.mit.edu	37	chr3	52469856	52469856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtccttgtaccaggcCttgggtggggtggaagccag	7	9	17	8	0	0	0	0	0	0	0	1	2	1	2	4	6	2	1	4	6	2	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:52469856C>T	uc003dea.1	-	15	2112	c.2112G>A	c.(2110-2112)aaG>aaA	p.K704K		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	704					multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TGTACCAGGCCTTGGGTGGGG	0.642													T	52469856	C	T	52469856	2	4	101	1	0	0	0	0	0	0	0	1	14123	680	24	2		2	SEMA3G	3	52469856	Silent	SNP	C	TCGA-06-6391-01A-11D-1696-08	6054987	52469856	145552574	16	6731											
EAF2	55840	broad.mit.edu	37	chr3	121573665	121573665	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaacatcactgtaaaaaaAacaaggtatgtggtttaatg	18	10	8	5	0	1	0	1	0	0	0	1	0	1	0	0	2	3	4	0	2	8	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:121573665A>T	uc003een.3	+	2	432	c.333A>T	c.(331-333)aaA>aaT	p.K111N	EAF2_uc003eeo.3_Intron	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	111					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CTGTAAAAAAAACAAGGTATG	0.254													T	121573665	A	T	121573665	3	4	101	1	0	0	0	0	1	0	0	0	4915	11	1	5	343	5	EAF2	3	121573665	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	69103809	121573665	76448765	17	6732											
MBNL1	4154	broad.mit.edu	37	chr3	152163096	152163096	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgagagtaccaacgtggcaAttgcaaccgaggagaaaatg	15	6	12	8	3	0	2	0	0	0	2	1	5	0	2	2	2	4	3	2	2	6	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:152163096A>T	uc003ezm.3	+	3	1364	c.575A>T	c.(574-576)aAt>aTt	p.N192I	MBNL1_uc003ezh.3_Missense_Mutation_p.N192I|MBNL1_uc003ezi.3_Missense_Mutation_p.N192I|MBNL1_uc003ezj.3_Missense_Mutation_p.N135I|MBNL1_uc003ezl.3_Missense_Mutation_p.N192I|MBNL1_uc003ezp.3_Missense_Mutation_p.N192I|MBNL1_uc003ezn.3_Missense_Mutation_p.N124I|MBNL1_uc003ezo.3_Missense_Mutation_p.N124I|MBNL1_uc010hvp.3_Missense_Mutation_p.N100I	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	192					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding	p.G191D(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAACGTGGCAATTGCAACCGA	0.403													T	152163096	A	T	152163096	3	4	101	1	0	0	0	0	1	0	0	0	9428	101	4	5	589	5	MBNL1	3	152163096	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	30589431	152163096	45859334	18	6733											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr3:178916876G>A	uc003fjk.3	+	1	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(102)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	101	1	0	0	0	0	1	0	0	0	11990	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	26753780	178916876	19105554	19	6734											
TXK	7294	broad.mit.edu	37	chr4	48106929	48106929	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaattacctcttgtctcaAtagatgttctgcctgatttc	8	18	6	9	0	3	3	1	2	3	1	5	3	3	3	2	0	2	1	2	0	4	6			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:48106929A>G	uc003gxx.4	-	5	576	c.490T>C	c.(490-492)Ttg>Ctg	p.L164L	TXK_uc003gxy.1_Silent_p.L164L	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	164	SH2.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.L163L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TCTTGTCTCAATAGATGTTCT	0.254													G	48106929	A	G	48106929	2	3	101	1	0	0	0	0	0	0	0	1	16888	98	4	3		3	TXK	4	48106929	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08		48106929	143047347	20	6735											
CCDC158	339965	broad.mit.edu	37	chr4	77283442	77283442	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcaagctcccggatCtttgcatcttttttatcttt	5	18	6	12	1	4	0	1	0	3	0	5	1	5	1	2	2	2	2	2	2	2	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr4:77283442C>A	uc003hkb.4	-	11	2010	c.1857G>T	c.(1855-1857)aaG>aaT	p.K619N		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	619										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						GCTCCCGGATCTTTGCATCTT	0.393													A	77283442	C	A	77283442	3	1	101	1	0	0	0	0	1	0	0	0	2817	912	32	4	1536	4	CCDC158	4	77283442	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	29176513	77283442	113870834	21	6736											
DNAH5	1767	broad.mit.edu	37	chr5	13871097	13871097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctcagcagtcagggCgaacttcaagtcagctgtaa	10	11	10	10	1	4	0	4	0	1	0	5	1	4	0	0	1	3	3	0	1	3	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:13871097C>T	uc003jfd.2	-	23	3655	c.3613G>A	c.(3613-3615)Gcc>Acc	p.A1205T		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1205	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAGTCAGGGCGAACTTCAAG	0.403									Kartagener syndrome				T	13871097	C	T	13871097	3	4	101	1	0	0	0	0	1	0	0	0	4643	768	27	1	10485	1	DNAH5	5	13871097	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		13871097	167044163	22	6737											
HEATR7B2	133558	broad.mit.edu	37	chr5	41051145	41051145	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcttgtttctcggacagaTtcctcttccttttcattctc	5	18	6	12	1	4	1	1	0	3	1	8	2	6	2	2	2	0	2	2	2	0	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:41051145T>C	uc003jmj.4	-	12	1768	c.1278A>G	c.(1276-1278)gaA>gaG	p.E426E	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	426							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTCGGACAGATTCCTCTTCCT	0.423													C	41051145	T	C	41051145	2	2	101	1	0	0	0	0	0	0	0	1	7090	1490	52	3		3	HEATR7B2	5	41051145	Silent	SNP	T	TCGA-06-6391-01A-11D-1696-08	27180048	41051145	139864115	23	6738											
PCDHAC2	56145	broad.mit.edu	37	chr5	140181903	140181903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatcgctctgatcagcgTgtccgaccgcgactcaggag	8	8	12	13	5	4	1	3	1	1	0	6	4	5	2	2	1	1	1	2	1	0	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:140181903T>C	uc003lhf.2	+	0	1121	c.1121T>C	c.(1120-1122)gTg>gCg	p.V374A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V374A	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	389	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGATCAGCGTGTCCGACCGC	0.483													C	140181903	T	C	140181903	3	2	101	1	0	0	0	0	1	0	0	0	11609	1696	59	3		3	PCDHAC2	5	140181903	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	99130758	140181903	40733357	24	6739											
GLRA1	2741	broad.mit.edu	37	chr5	151230995	151230995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctgggtggtcatggTgagcacagtggtgatgccta	7	10	17	7	0	2	2	1	2	1	0	2	3	2	3	1	5	3	2	1	5	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr5:151230995T>A	uc003lut.3	-	6	1155	c.868A>T	c.(868-870)Acc>Tcc	p.T290S	GLRA1_uc003lur.3_Missense_Mutation_p.T290S|GLRA1_uc003lus.3_Missense_Mutation_p.T207S	NM_001146040	NP_001139512	P23415	GLRA1_HUMAN	Homo sapiens glycine receptor, alpha 1 (GLRA1), transcript variant 1, mRNA.	290					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTGGTCATGGTGAGCACAGTG	0.547													A	151230995	T	A	151230995	3	1	101	1	0	0	0	0	1	0	0	0	6510	1696	59	5	517	5	GLRA1	5	151230995	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	11049092	151230995	29684265	25	6740											
ZNF165	7718	broad.mit.edu	37	chr6	28056507	28056507	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaagagacaatgggaaaaAgaatcaggggagtctcagag	18	5	14	4	0	2	3	2	0	1	3	3	6	2	5	0	3	0	1	0	3	6	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:28056507A>G	uc021yro.1	+	3	1544	c.717A>G	c.(715-717)aaA>aaG	p.K239K	ZNF165_uc003nkh.3_Silent_p.K239K|ZNF165_uc003nki.4_Silent_p.K239K|ZSCAN12P1_uc003nkj.4_5'Flank	NM_003447	NP_003438	P49910	ZN165_HUMAN	Homo sapiens zinc finger protein 165 (ZNF165), mRNA.	239					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AATGGGAAAAAGAATCAGGGG	0.433													G	28056507	A	G	28056507	2	3	101	1	0	0	0	0	0	0	0	1	17841	69	3	3		3	ZNF165	6	28056507	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08		28056507	143058560	26	6741											
SLC26A8	116369	broad.mit.edu	37	chr6	35922972	35922972	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatccacgtagtgtaccAtggagaaatccaggatgatg	13	9	12	7	1	0	3	0	2	0	1	2	5	2	4	3	2	1	2	3	2	4	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:35922972A>T	uc003olm.3	-	16	2300	c.2189T>A	c.(2188-2190)aTg>aAg	p.M730K	SLC26A8_uc010jwa.3_Non-coding_Transcript|SLC26A8_uc003olk.3_Missense_Mutation_p.M312K|SLC26A8_uc003oll.3_Missense_Mutation_p.M625K|SLC26A8_uc003oln.3_Missense_Mutation_p.M730K	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	730	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTAGTGTACCATGGAGAAATC	0.547													T	35922972	A	T	35922972	3	4	101	1	0	0	0	0	1	0	0	0	14617	217	8	5	739	5	SLC26A8	6	35922972	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	7866465	35922972	135192095	27	6742											
EPM2A	7957	broad.mit.edu	37	chr6	145948736	145948736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacagccgcggtggagcggCccaccccagcgttgcagtgc	7	4	15	15	4	0	1	0	0	0	1	0	2	0	2	4	3	5	2	4	3	0	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr6:145948736C>T	uc003qkw.3	-	3	1169	c.812G>A	c.(811-813)gGc>gAc	p.G271D	EPM2A_uc003qkv.3_Missense_Mutation_p.G271D|EPM2A_uc010khr.3_Silent_p.G190G|EPM2A_uc003qkx.3_Missense_Mutation_p.G133D|EPM2A_uc003qku.3_Missense_Mutation_p.G117D	NM_005670	NP_005661	O95278	EPM2A_HUMAN	Homo sapiens epilepsy, progressive myoclonus type 2A, Lafora disease (laforin) (EPM2A), transcript variant 1, mRNA.	271	Tyrosine-protein phosphatase.				glycogen metabolic process	cytosol|endoplasmic reticulum|nucleus|plasma membrane|polysome	carbohydrate binding|identical protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	7		Ovarian(120;0.162)		OV - Ovarian serous cystadenocarcinoma(155;3.38e-07)|GBM - Glioblastoma multiforme(68;0.0203)		GGTGGAGCGGCCCACCCCAGC	0.632													T	145948736	C	T	145948736	3	4	101	1	0	0	0	0	1	0	0	0	5224	739	26	2	221	2	EPM2A	6	145948736	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	110025764	145948736	25166331	28	6743											
C7orf10	79783	broad.mit.edu	37	chr7	40899925	40899925	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttggcaggcccagctgtGagatacagtaagttcaagat	11	10	11	9	0	1	2	1	1	0	2	1	3	1	2	2	2	2	4	2	2	3	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899925G>C	uc022acd.1	+	14	1287	c.1263G>C	c.(1261-1263)gtG>gtC	p.V421V	C7orf10_uc003thn.2_Silent_p.V395V|C7orf10_uc003tho.2_Silent_p.V347V|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	395							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						GCCCAGCTGTGAGATACAGTA	0.527													C	40899925	G	C	40899925	2	2	101	1	0	0	0	0	0	0	0	1	2400	1277	45	4		4	C7orf10	7	40899925	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		40899925	118238738	29	6744			1	21		2	2	26	G		6.218163e-05
C7orf10	79783	broad.mit.edu	37	chr7	40899950	40899950	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtaagttcaagatgtcaGaggccaggccgcccccgctg	10	6	12	13	2	2	2	2	0	0	2	2	2	2	2	4	2	0	3	4	2	2	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:40899950G>C	uc022acd.1	+	14	1312	c.1288G>C	c.(1288-1290)Gag>Cag	p.E430Q	C7orf10_uc003thn.2_Missense_Mutation_p.E404Q|C7orf10_uc003tho.2_Missense_Mutation_p.E356Q|C7orf10_uc003thp.2_Non-coding_Transcript	NM_001193311	NP_001180240	Q9HAC7	CG010_HUMAN	Homo sapiens chromosome 7 open reading frame 10 (C7orf10), transcript variant 1, mRNA.	404							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CAAGATGTCAGAGGCCAGGCC	0.552													C	40899950	G	C	40899950	3	2	101	1	0	0	0	0	1	0	0	0	2400	943	33	4	1235	4	C7orf10	7	40899950	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	25	40899950	118238713	30	6745			1	21		2	2	26	G		6.218163e-05
STEAP4	79689	broad.mit.edu	37	chr7	87912074	87912074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccaagctgctttcggCaaagcatccagtggtcaagc	11	7	10	13	1	1	0	1	0	0	0	3	0	2	0	3	2	5	4	3	2	4	1	rs79363691		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:87912074C>A	uc022agz.1	-	3	1089	c.866G>T	c.(865-867)tGc>tTc	p.C289F	STEAP4_uc003ujs.3_Missense_Mutation_p.C289F|STEAP4_uc010lek.3_Intron	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	289	Ferric oxidoreductase.				fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					CTGCTTTCGGCAAAGCATCCA	0.478													A	87912074	C	A	87912074	3	1	101	1	0	0	0	0	1	0	0	0	15376	710	25	4	525	4	STEAP4	7	87912074	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	47012124	87912074	71226589	31	6746											
EZH2	2146	broad.mit.edu	37	chr7	148506237	148506237	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatcctgtgatcaccgttAaccatcataactgcaaagag	13	10	6	12	1	2	2	2	1	0	1	3	2	3	2	4	0	3	2	4	0	4	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr7:148506237A>T	uc003wfd.2	-	18	2299	c.2106T>A	c.(2104-2106)gtT>gtA	p.V702V	EZH2_uc022aov.1_Silent_p.V621V|EZH2_uc011kug.2_Silent_p.V651V|EZH2_uc003wfb.2_Silent_p.V707V|EZH2_uc003wfc.2_Silent_p.V663V|EZH2_uc011kuh.2_Silent_p.V693V	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	702	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GATCACCGTTAACCATCATAA	0.443			Mis		DLBCL								T	148506237	A	T	148506237	2	4	101	1	0	0	0	0	0	0	0	1	5376	349	13	5		5	EZH2	7	148506237	Silent	SNP	A	TCGA-06-6391-01A-11D-1696-08	60594163	148506237	10632426	32	6747											
ZFHX4	79776	broad.mit.edu	37	chr8	77766549	77766549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatcggaagacctccctcGgcctctcaaacaccggtccc	8	8	7	18	3	1	1	1	0	1	1	6	2	3	2	5	3	1	0	5	3	3	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr8:77766549G>A	uc003yau.2	+	9	7779	c.7392G>A	c.(7390-7392)tcG>tcA	p.S2464S	ZFHX4_uc003yaw.1_Silent_p.S2419S	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2419						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S2448S(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GACCTCCCTCGGCCTCTCAAA	0.537										HNSCC(33;0.089)			A	77766549	G	A	77766549	2	1	101	1	0	0	0	0	0	0	0	1	17736	1103	39	1		1	ZFHX4	8	77766549	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		77766549	68597473	33	6748											
IARS	3376	broad.mit.edu	37	chr9	95050515	95050515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacccgcaagtatatgtcCatagtgaggcagtccagttg	10	11	11	9	1	0	1	0	1	0	0	2	1	2	1	3	1	1	5	3	1	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:95050515C>T	uc004art.1	-	2	426	c.169G>A	c.(169-171)Gga>Aga	p.G57R	IARS_uc004ars.1_5'UTR|IARS_uc004aru.3_Missense_Mutation_p.G57R|IARS_uc010mqr.2_Intron|IARS_uc010mqt.2_Missense_Mutation_p.M12I	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	57					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AGTATATGTCCATAGTGAGGC	0.368													T	95050515	C	T	95050515	3	4	101	1	0	0	0	0	1	0	0	0	7531	603	21	2	3747	2	IARS	9	95050515	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		95050515	46162916	34	6749											
DNM1	1759	broad.mit.edu	37	chr9	130965824	130965824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttctctgccatcggccaGaacgcggacctcgacctgcc	6	7	10	18	4	1	1	0	0	1	1	4	3	1	2	6	2	3	0	6	2	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr9:130965824G>A	uc022bob.1	+	0	162	c.75G>A	c.(73-75)caG>caA	p.Q25Q	CIZ1_uc004btw.3_Intron|CIZ1_uc004btv.3_Intron|DNM1_uc022bnx.1_Silent_p.Q25Q|DNM1_uc022bny.1_Silent_p.Q25Q|DNM1_uc022bnz.1_Silent_p.Q25Q|DNM1_uc022boa.1_Silent_p.Q25Q	NM_004408	NP_004399	Q05193	DYN1_HUMAN	Homo sapiens dynamin 1 (DNM1), transcript variant 1, mRNA.	25					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CCATCGGCCAGAACGCGGACC	0.692													A	130965824	G	A	130965824	2	1	101	1	0	0	0	0	0	0	0	1	4709	933	33	2		2	DNM1	9	130965824	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	35915309	130965824	10247607	35	6750											
SORBS1	10580	broad.mit.edu	37	chr10	97096883	97096883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgttatagatagaagcctCtggcagaggaggcaagggtg	12	8	16	5	0	1	3	0	0	1	3	1	4	1	4	1	4	1	3	1	4	5	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr10:97096883C>G	uc001kkp.3	-	27	3079	c.3034G>C	c.(3034-3036)Gag>Cag	p.E1012Q	SORBS1_uc001kkk.3_Intron|SORBS1_uc001kkl.3_Intron|SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Intron|SORBS1_uc001kko.3_Intron|SORBS1_uc001kkq.3_Intron|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Intron|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.E966Q|SORBS1_uc010qoe.2_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	1012					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATAGAAGCCTCTGGCAGAGGA	0.607													G	97096883	C	G	97096883	3	3	101	1	0	0	0	0	1	0	0	0	15021	922	32	4	924	4	SORBS1	10	97096883	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		97096883	38437864	36	6751											
OR10Q1	219960	broad.mit.edu	37	chr11	57996044	57996044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaacatttgggcccCacatccagccaacgaaatgg	16	5	9	11	1	0	2	0	0	0	2	1	3	1	2	4	2	3	0	4	2	5	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:57996044C>T	uc010rkd.2	-	0	347	c.304G>A	c.(304-306)Ggg>Agg	p.G102R		NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Q, member 1 (OR10Q1), mRNA.	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G102V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				ATTTGGGCCCCACATCCAGCC	0.547													T	57996044	C	T	57996044	3	4	101	1	0	0	0	0	1	0	0	0	10992	594	21	2	659	2	OR10Q1	11	57996044	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		57996044	77010472	37	6752											
GAB2	9846	broad.mit.edu	37	chr11	77934481	77934481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgatcaggtttgaggttgCggttgacagggggtggctga	6	11	18	6	2	1	3	1	3	0	0	2	4	2	3	1	6	1	4	1	6	0	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:77934481C>T	uc001ozh.3	-	5	1646	c.1544G>A	c.(1543-1545)cGc>cAc	p.R515H	GAB2_uc001ozg.3_Missense_Mutation_p.R477H	NM_080491	NP_036428	Q9UQC2	GAB2_HUMAN	Homo sapiens GRB2-associated binding protein 2 (GAB2), transcript variant 1, mRNA.	515					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTTGAGGTTGCGGTTGACAGG	0.547													T	77934481	C	T	77934481	3	4	101	1	0	0	0	0	1	0	0	0	6201	768	27	1	506	1	GAB2	11	77934481	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	19938437	77934481	57072035	38	6753											
PDGFD	80310	broad.mit.edu	37	chr11	103797801	103797801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatattgaccgagtaatTcctgggagtgcaactgtaac	11	13	9	8	1	1	1	0	1	1	0	2	3	2	2	2	1	3	3	2	1	5	6			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr11:103797801T>C	uc001phq.3	-	5	1198	c.826A>G	c.(826-828)Aat>Gat	p.N276D	PDGFD_uc001php.3_Missense_Mutation_p.N270D	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	276					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		ACCGAGTAATTCCTGGGAGTG	0.478													C	103797801	T	C	103797801	3	2	101	1	0	0	0	0	1	0	0	0	11736	1783	62	3	294	3	PDGFD	11	103797801	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	25863320	103797801	31208715	39	6754											
CD163	9332	broad.mit.edu	37	chr12	7639374	7639374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctactctcccagcacagcGacctcctccatttaccaggc	8	9	5	19	1	2	0	0	0	2	0	5	1	4	0	5	1	4	1	5	1	2	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:7639374G>A	uc001qsz.3	-	9	2307	c.2179C>T	c.(2179-2181)Cgc>Tgc	p.R727C	CD163_uc001qta.3_Missense_Mutation_p.R727C|CD163_uc009zfw.2_Missense_Mutation_p.R760C	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	727	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCAGCACAGCGACCTCCTCCA	0.458													A	7639374	G	A	7639374	3	1	101	1	0	0	0	0	1	0	0	0	2997	1058	37	1	1319	1	CD163	12	7639374	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		7639374	126212521	40	6755											
GUCY2C	2984	broad.mit.edu	37	chr12	14840978	14840978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaatacatgaaagtagcGttcacagtcacatttaggcc	13	10	8	10	2	2	1	2	1	0	0	3	2	3	1	2	1	2	2	2	1	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:14840978G>A	uc001rcd.3	-	1	374	c.237C>T	c.(235-237)aaC>aaT	p.N79N	GUCY2C_uc009zhz.2_Silent_p.N79N	NM_004963	NP_004954	P25092	GUC2C_HUMAN	Homo sapiens guanylate cyclase 2C (heat stable enterotoxin receptor) (GUCY2C), mRNA.	79					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGAAAGTAGCGTTCACAGTCA	0.433													A	14840978	G	A	14840978	2	1	101	1	0	0	0	0	0	0	0	1	6951	1136	40	1		1	GUCY2C	12	14840978	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	7201604	14840978	119010917	41	6756											
RERGL	79785	broad.mit.edu	37	chr12	18237578	18237578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaagctcacttgtgaGggagaattttgctttctgtg	8	14	12	7	0	2	3	1	2	1	1	2	4	2	3	1	1	2	2	1	1	2	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:18237578G>T	uc001rdq.3	-	4	402	c.208C>A	c.(208-210)Ctc>Atc	p.L70I		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	70	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TCACTTGTGAGGGAGAATTTT	0.383													T	18237578	G	T	18237578	3	4	101	1	0	0	0	0	1	0	0	0	13321	1000	35	4	417	4	RERGL	12	18237578	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	3396600	18237578	115614317	42	6757											
C12orf40	283461	broad.mit.edu	37	chr12	40114778	40114778	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accagttctcagtgaaaaatAatacagatcagtttccacag	16	10	6	9	0	2	2	2	1	1	1	4	2	3	2	2	0	1	2	2	0	4	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114778A>G	uc001rmc.3	+	12	1851	c.1684A>G	c.(1684-1686)Aat>Gat	p.N562D	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	562								p.N562D(4)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						AGTGAAAAATAATACAGATCA	0.393													G	40114778	A	G	40114778	3	3	101	1	0	0	0	0	1	0	0	0	1699	362	13	3	1734	3	C12orf40	12	40114778	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	21877200	40114778	93737117	43	6758			2	22		3	3	206	A		1.293236e-07
C12orf40	283461	broad.mit.edu	37	chr12	40114932	40114932	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattagatgttgccatacAgtgtgatctaatttcaaaat	16	14	6	5	0	2	2	1	1	1	1	2	2	2	2	1	0	2	1	1	0	7	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114932A>G	uc001rmc.3	+	12	2005	c.1838A>G	c.(1837-1839)cAg>cGg	p.Q613R	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	613										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						GTTGCCATACAGTGTGATCTA	0.408													G	40114932	A	G	40114932	3	3	101	1	0	0	0	0	1	0	0	0	1699	188	7	3	1888	3	C12orf40	12	40114932	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	154	40114932	93736963	44	6759			2	22		3	3	206	A		1.293236e-07
C12orf40	283461	broad.mit.edu	37	chr12	40114983	40114983	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtgatgtttctctttgcaAccttgaaaggtgcagtggaa	11	13	11	6	0	1	2	0	2	1	0	2	3	1	3	1	2	3	3	1	2	4	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40114983A>C	uc001rmc.3	+	12	2056	c.1889A>C	c.(1888-1890)aAc>aCc	p.N630T	C12orf40_uc009zjv.1_Intron	NM_001031748	NP_001026918	Q86WS4	CL040_HUMAN	Homo sapiens chromosome 12 open reading frame 40 (C12orf40), mRNA.	630								p.N630S(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCTCTTTGCAACCTTGAAAGG	0.363													C	40114983	A	C	40114983	3	2	101	1	0	0	0	0	1	0	0	0	1699	43	2	5	1939	5	C12orf40	12	40114983	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	51	40114983	93736912	45	6760			2	22		3	3	206	A		1.293236e-07
SLC2A13	114134	broad.mit.edu	37	chr12	40153845	40153845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattattccacatcagaagCatcattgtcagaaagatgat	17	11	6	7	0	3	4	3	1	0	3	4	4	4	4	1	0	1	1	1	0	4	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:40153845C>T	uc010skm.2	-	9	1981	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C12orf40_uc009zjv.1_Intron	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 13 (SLC2A13), mRNA.	644						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ACATCAGAAGCATCATTGTCA	0.383										HNSCC(50;0.14)			T	40153845	C	T	40153845	3	4	101	1	0	0	0	0	1	0	0	0	14636	710	25	2	20	2	SLC2A13	12	40153845	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	38862	40153845	93698050	46	6761											
R3HDM2	22864	broad.mit.edu	37	chr12	57677642	57677642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccgcactgccgcctttaCtgctgccgatgctgtcacct	4	12	8	17	3	1	0	1	0	0	0	2	1	2	0	5	0	5	3	5	0	1	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:57677642C>G	uc009zpm.1	-	10	1129	c.1094G>C	c.(1093-1095)aGt>aCt	p.S365T	R3HDM2_uc010srn.1_Non-coding_Transcript|R3HDM2_uc001snu.2_Missense_Mutation_p.S26T|R3HDM2_uc001snr.2_Missense_Mutation_p.S92T|R3HDM2_uc001sns.2_Missense_Mutation_p.S365T|R3HDM2_uc001snt.2_Missense_Mutation_p.S379T	NM_014925	NP_055740	Q9Y2K5	R3HD2_HUMAN	Homo sapiens R3H domain containing 2 (R3HDM2), mRNA.	365	Ser-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GCCGCCTTTACTGCTGCCGAT	0.532													G	57677642	C	G	57677642	3	3	101	1	0	0	0	0	1	0	0	0	12976	565	20	4	1884	4	R3HDM2	12	57677642	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	17523797	57677642	76174253	47	6762											
PTPRR	5801	broad.mit.edu	37	chr12	71286523	71286523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagatcttgaccatccatgGccagcagattgagagacggg	12	7	12	10	1	1	5	0	2	1	3	2	6	2	5	3	2	1	1	3	2	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:71286523G>A	uc001swi.2	-	1	707	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	98					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ACCATCCATGGCCAGCAGATT	0.458													A	71286523	G	A	71286523	3	1	101	1	0	0	0	0	1	0	0	0	12898	1203	42	2	1732	2	PTPRR	12	71286523	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	13608881	71286523	62565372	48	6763											
MYF5	4617	broad.mit.edu	37	chr12	81110965	81110965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtggctgccttcggagcGcacaaagcagagctgcaggg	9	5	16	11	3	0	1	0	0	0	1	1	3	0	2	1	3	5	5	1	3	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:81110965G>A	uc001szg.2	+	0	258	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	41					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CCTTCGGAGCGCACAAAGCAG	0.617													A	81110965	G	A	81110965	2	1	101	1	0	0	0	0	0	0	0	1	10103	1074	38	1		1	MYF5	12	81110965	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	9824442	81110965	52740930	49	6764											
ALX1	8092	broad.mit.edu	37	chr12	85695019	85695019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtgacacttcctcctgtatGacaccttattctcactcgcc	7	13	5	16	2	1	2	1	2	1	0	5	2	3	2	4	0	0	1	4	0	2	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:85695019G>A	uc001tae.4	+	3	751	c.747G>A	c.(745-747)atG>atA	p.M249I		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	249					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCTCCTGTATGACACCTTATT	0.453													A	85695019	G	A	85695019	3	1	101	1	0	0	0	0	1	0	0	0	556	1290	45	2	761	2	ALX1	12	85695019	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	4584054	85695019	48156876	50	6765											
HAL	3034	broad.mit.edu	37	chr12	96389510	96389510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttgtccagcaggcccaggCccttgcaccggcgcacaagg	7	5	13	16	3	0	0	0	0	0	0	1	0	1	0	4	4	2	4	4	4	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr12:96389510C>T	uc001tem.1	-	1	476	c.179G>A	c.(178-180)gGc>gAc	p.G60D	HAL_uc010sux.1_Missense_Mutation_p.G60D|HAL_uc009zti.1_Non-coding_Transcript|HAL_uc010suw.1_5'UTR	NM_002108	NP_002099	P42357	HUTH_HUMAN	Homo sapiens histidine ammonia-lyase (HAL), mRNA.	60					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	CAGGCCCAGGCCCTTGCACCG	0.642													T	96389510	C	T	96389510	3	4	101	1	0	0	0	0	1	0	0	0	7002	739	26	2	1874	2	HAL	12	96389510	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	10694491	96389510	37462385	51	6766											
KL	9365	broad.mit.edu	37	chr13	33629339	33629339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccaaagtcttcagccttgTtctaccaaaagctgatagag	12	11	8	10	0	3	2	1	1	2	1	3	2	3	2	3	0	4	2	3	0	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:33629339T>C	uc001uus.3	+	2	1494	c.1486T>C	c.(1486-1488)Ttc>Ctc	p.F496L	KL_uc001uur.1_Missense_Mutation_p.F189L	NM_004795	NP_004786	Q9UEF7	KLOT_HUMAN	Homo sapiens klotho (KL), mRNA.	496	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		TTCAGCCTTGTTCTACCAAAA	0.463													C	33629339	T	C	33629339	3	2	101	1	0	0	0	0	1	0	0	0	8389	1725	60	3	1496	3	KL	13	33629339	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08		33629339	81540539	52	6767											
MYO16	23026	broad.mit.edu	37	chr13	109859183	109859183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctctgggacaccaccatttGatgtggcctgaactgcagac	9	9	11	12	0	1	3	0	2	1	1	1	4	1	4	3	2	2	2	3	2	1	1			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr13:109859183G>A	uc010agk.2	+	34	6264	c.5642G>A	c.(5641-5643)tGa>tAa	p.*1881*	MYO16_uc001vqt.1_Silent_p.*1859*	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	0					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			ACCACCATTTGATGTGGCCTG	0.572													A	109859183	G	A	109859183	2	1	101	1	0	0	0	0	0	0	0	1	10140	1285	45	2		2	MYO16	13	109859183	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	76229844	109859183	5310695	53	6768											
OR5AU1	390445	broad.mit.edu	37	chr14	21623219	21623219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagatgacagcaactgtgcgGtcctgggtcaaggagtagct	10	9	14	8	1	1	2	1	1	0	1	2	3	2	3	1	3	4	3	1	3	4	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:21623219G>A	uc010tlp.2	-	0	966	c.966C>T	c.(964-966)gaC>gaT	p.D322D		NM_001004731	NP_001004731	Q8NGC0	O5AU1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AU, member 1 (OR5AU1), mRNA.	322					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(12)|pancreas(1)	21	all_cancers(95;0.00238)		Epithelial(56;6.88e-07)|all cancers(55;6.02e-06)	GBM - Glioblastoma multiforme(265;0.0192)		CAACTGTGCGGTCCTGGGTCA	0.493													A	21623219	G	A	21623219	2	1	101	1	0	0	0	0	0	0	0	1	11223	1252	44	2		2	OR5AU1	14	21623219	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		21623219	85726321	54	6769											
HEATR5A	25938	broad.mit.edu	37	chr14	31782317	31782317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatgaacatgatccatttCtgataccgtcttctaaacag	12	13	6	10	1	3	4	0	4	3	0	4	4	4	4	2	0	3	0	2	0	4	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:31782317C>T	uc001wrf.4	-	27	4483	c.4298G>A	c.(4297-4299)aGa>aAa	p.R1433K	HEATR5A_uc010ami.3_Missense_Mutation_p.R1038K	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1427							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		TGATCCATTTCTGATACCGTC	0.398													T	31782317	C	T	31782317	3	4	101	1	0	0	0	0	1	0	0	0	7086	913	32	2	1878	2	HEATR5A	14	31782317	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	10159098	31782317	75567223	55	6770											
SRP54	6729	broad.mit.edu	37	chr14	35470222	35470222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtatttaaagaacttgTgaaggtaaaagtatatgaag	16	13	10	2	0	0	3	0	2	0	1	0	3	0	3	0	1	2	4	0	1	10	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr14:35470222T>C	uc001wso.3	+	3	602	c.251T>C	c.(250-252)gTg>gCg	p.V84A	SRP54_uc010tpp.2_Missense_Mutation_p.V35A|SRP54_uc010tpq.2_Missense_Mutation_p.V20A	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	84	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		AAAGAACTTGTGAAGGTAAAA	0.313													C	35470222	T	C	35470222	3	2	101	1	0	0	0	0	1	0	0	0	15251	1696	59	3	261	3	SRP54	14	35470222	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	3687905	35470222	71879318	56	6771											
SPINT1	6692	broad.mit.edu	37	chr15	41137192	41137192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcacgagggaagtgtaccGctcctaccgccagctgcgga	8	6	12	15	4	1	0	1	0	0	0	2	3	2	2	5	2	4	3	5	2	3	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr15:41137192G>A	uc001zna.3	+	1	644	c.440G>A	c.(439-441)cGc>cAc	p.R147H	SPINT1_uc001znb.3_Missense_Mutation_p.R147H|SPINT1_uc001znc.3_Missense_Mutation_p.R147H|SPINT1_uc010ucs.2_Missense_Mutation_p.R147H	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	147						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAAGTGTACCGCTCCTACCGC	0.582													A	41137192	G	A	41137192	3	1	101	1	0	0	0	0	1	0	0	0	15164	1087	38	1	442	1	SPINT1	15	41137192	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		41137192	61394200	57	6772											
TPSAB1	7177	broad.mit.edu	37	chr16	1291199	1291199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatcgtcgggggtcaggAggcccccaggagcaagtggc	7	4	19	11	2	1	0	1	0	0	0	3	2	1	2	2	7	1	2	2	7	1	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:1291199A>G	uc002ckz.3	+	2	159	c.107A>G	c.(106-108)gAg>gGg	p.E36G	TPSAB1_uc010uux.2_5'UTR	NM_003294	NP_003285	P20231	TRYB2_HUMAN	Homo sapiens tryptase alpha/beta 1 (TPSAB1), mRNA.	36	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				GGGGGTCAGGAGGCCCCCAGG	0.711													G	1291199	A	G	1291199	3	3	101	1	0	0	0	0	1	0	0	0	16524	304	11	3	113	3	TPSAB1	16	1291199	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08		1291199	89063554	58	6773											
MYH11	4629	broad.mit.edu	37	chr16	15813552	15813552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcatcttccagctctctttGaaagtccttcatctgagcct	7	14	7	13	0	4	2	1	2	3	0	7	2	6	2	3	1	2	2	3	1	1	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:15813552G>C	uc002ddx.3	-	35	5100	c.4993C>G	c.(4993-4995)Caa>Gaa	p.Q1665E	MYH11_uc002ddv.3_Missense_Mutation_p.Q1665E|MYH11_uc002ddw.3_Missense_Mutation_p.Q1658E|MYH11_uc002ddy.3_Missense_Mutation_p.Q1658E|MYH11_uc010bvg.3_Missense_Mutation_p.Q1490E|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.Q364E|NDE1_uc002ddz.1_5'Flank	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1658					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						AGCTCTCTTTGAAAGTCCTTC	0.517			T	CBFB	AML								C	15813552	G	C	15813552	3	2	101	1	0	0	0	0	1	0	0	0	10107	1299	45	4	1009	4	MYH11	16	15813552	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	14522353	15813552	74541201	59	6774											
SMG1	23049	broad.mit.edu	37	chr16	18830977	18830977	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgcagctagcttctcCtataaaagccagcagaatct	13	10	7	11	0	3	1	1	0	2	1	4	1	3	1	2	0	5	4	2	0	6	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:18830977C>T	uc002dfm.3	-	56	10105	c.9742_splice	c.e56-1	p.E3248_splice	SMG1_uc010bwb.3_Splice_Site_p.E3108_splice|SMG1_uc010bwa.3_Splice_Site_p.E1979_splice	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	3248					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CTAGCTTCTCCTATAAAAGCC	0.413													T	18830977	C	T	18830977	5	4	101	1	0	0	0	0	0	0	1	0	14889	695	24	2	1276	2	SMG1	16	18830977	Splice_Site	SNP	C	TCGA-06-6391-01A-11D-1696-08	3017425	18830977	71523776	60	6775											
DNAH3	55567	broad.mit.edu	37	chr16	21123036	21123036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacagagatcatgatttagGgccgtagcatcaaggcagaa	14	8	11	8	1	3	3	3	1	0	2	3	4	3	3	1	2	1	3	1	2	4	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:21123036G>A	uc010vbe.2	-	13	2010	c.2010C>T	c.(2008-2010)gcC>gcT	p.A670A	DNAH3_uc002die.2_Silent_p.A610A	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	670	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATGATTTAGGGCCGTAGCAT	0.418													A	21123036	G	A	21123036	2	1	101	1	0	0	0	0	0	0	0	1	4642	1219	43	2		2	DNAH3	16	21123036	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	2292059	21123036	69231717	61	6776											
PRKCB	5579	broad.mit.edu	37	chr16	24166173	24166173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccactcctgcttccagAccatggtaacttgtcccatg	8	11	7	15	0	0	1	0	0	0	1	4	1	4	1	5	1	3	3	5	1	1	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr16:24166173A>G	uc002dmd.3	+	9	1431	c.1234A>G	c.(1234-1236)Acc>Gcc	p.T412A	PRKCB_uc002dme.3_Missense_Mutation_p.T412A	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	412	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGCTTCCAGACCATGGTAAC	0.582													G	24166173	A	G	24166173	3	3	101	1	0	0	0	0	1	0	0	0	12594	275	10	3	1272	3	PRKCB	16	24166173	Missense_Mutation	SNP	A	TCGA-06-6391-01A-11D-1696-08	3043137	24166173	66188580	62	6777											
OR3A2	4995	broad.mit.edu	37	chr17	3181702	3181702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcattggggccacagaaGttgagcgtggacatggccac	10	7	13	11	1	1	2	1	1	0	1	1	3	1	3	3	4	1	1	3	4	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:3181702G>C	uc002fvg.3	-	0	567	c.528C>G	c.(526-528)aaC>aaG	p.N176K		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	176					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						GGCCACAGAAGTTGAGCGTGG	0.567													C	3181702	G	C	3181702	3	2	101	1	0	0	0	0	1	0	0	0	11114	1020	36	4	441	4	OR3A2	17	3181702	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		3181702	78013508	63	6778											
KRT40	125115	broad.mit.edu	37	chr17	39140113	39140113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaatggtgttgaagtaaCgctgataatccgggcacacc	11	10	10	10	2	1	2	1	2	0	0	2	2	2	2	2	2	1	4	2	2	4	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr17:39140113C>T	uc010cxh.1	-	2	574	c.413G>A	c.(412-414)cGt>cAt	p.R138H	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	138	Coil 1B.|Rod.					intermediate filament	structural molecule activity	p.R138P(2)		endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				GTTGAAGTAACGCTGATAATC	0.483													T	39140113	C	T	39140113	3	4	101	1	0	0	0	0	1	0	0	0	8536	536	19	1	910	1	KRT40	17	39140113	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	35958411	39140113	42055097	64	6779											
SERPINB3	6318	broad.mit.edu	37	chr18	61309010	61309010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgtaaaaattgatacGtcttttctccgaagagcttg	11	15	7	8	2	2	2	0	1	2	1	3	3	2	2	2	0	3	2	2	0	6	7			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr18:61309010G>A	uc002ljf.3	-	3	421	c.335C>T	c.(334-336)aCg>aTg	p.T112M	SERPINB3_uc002lje.3_Missense_Mutation_p.T112M|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	112					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.T112T(2)|p.T112M(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAATTGATACGTCTTTTCTCC	0.423													A	61309010	G	A	61309010	3	1	101	1	0	0	0	0	1	0	0	0	14195	1145	40	1		1	SERPINB3	18	61309010	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		61309010	16768238	65	6780											
BEST2	54831	broad.mit.edu	37	chr19	12863444	12863444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccgagtggcgaacgcccGcttcggtggcttctcccagc	5	7	13	16	5	1	0	0	0	1	0	3	2	1	0	3	3	3	2	3	3	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:12863444G>A	uc002mux.3	+	0	38	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_017682	NP_060152	Q8NFU1	BEST2_HUMAN	Homo sapiens bestrophin 2 (BEST2), mRNA.	13					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						GCGAACGCCCGCTTCGGTGGC	0.657													A	12863444	G	A	12863444	3	1	101	1	0	0	0	0	1	0	0	0	1410	1087	38	1	40	1	BEST2	19	12863444	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08		12863444	46265539	66	6781											
SLC35E1	79939	broad.mit.edu	37	chr19	16664592	16664592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgtactgatagtccccGtgctgggggaagaggaggcc	7	6	17	11	3	0	2	0	1	0	1	1	4	1	4	4	5	2	2	4	5	3	2	rs139815009		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:16664592G>A	uc010xph.2	-	5	1149	c.1131C>T	c.(1129-1131)caC>caT	p.H377H	MED26_uc002nee.2_Non-coding_Transcript	NM_024881	NP_079157	Q96K37	S35E1_HUMAN	Homo sapiens solute carrier family 35, member E1 (SLC35E1), mRNA.	377					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GATAGTCCCCGTGCTGGGGGA	0.582													A	16664592	G	A	16664592	2	1	101	1	0	0	0	0	0	0	0	1	14678	1136	40	1		1	SLC35E1	19	16664592	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	3801148	16664592	42464391	67	6782											
FCGBP	8857	broad.mit.edu	37	chr19	40411954	40411954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtccgcagctggaggacTcacaggacaccaggccgccc	8	3	14	16	3	1	0	1	0	0	0	2	3	2	3	4	5	1	2	4	5	0	0			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:40411954T>C	uc002omp.4	-	6	3682	c.3674A>G	c.(3673-3675)gAg>gGg	p.E1225G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	1225	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCTGGAGGACTCACAGGACAC	0.677													C	40411954	T	C	40411954	3	2	101	1	0	0	0	0	1	0	0	0	5827	1551	54	3	12663	3	FCGBP	19	40411954	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	23747362	40411954	18717029	68	6783											
CYP2B6	1555	broad.mit.edu	37	chr19	41515193	41515193	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagtttacaaaaacctgCaggaaatcaatgcttacatt	16	10	7	8	0	1	0	1	0	0	0	1	1	1	1	1	2	5	4	1	2	7	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr19:41515193C>T	uc002opr.1	+	4	722	c.715C>T	c.(715-717)Cag>Tag	p.Q239*	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	239					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CAAAAACCTGCAGGAAATCAA	0.522													T	41515193	C	T	41515193	4	4	101	1	0	0	0	0	0	1	0	0	4197	711	25	2	733	2	CYP2B6	19	41515193	Nonsense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	1103239	41515193	17613790	69	6784											
CASS4	57091	broad.mit.edu	37	chr20	55021057	55021057	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggccccgtggtcctgaaGgtgagccttgttcaggggcc	4	8	17	12	2	1	2	1	2	0	0	2	2	2	2	5	6	1	1	5	6	1	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chr20:55021057G>A	uc002xxp.2	+	4	786	c.561_splice	c.e4+1	p.K187_splice	CASS4_uc002xxq.4_Splice_Site_p.K187_splice|CASS4_uc010zze.1_Splice_Site_p.K133_splice|CASS4_uc002xxr.2_Splice_Site_p.K187_splice|CASS4_uc010gio.2_Splice_Site_p.K187_splice	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	187					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TGGTCCTGAAGGTGAGCCTTG	0.622													A	55021057	G	A	55021057	2	1	101	1	0	0	0	0	0	0	0	1	2709	1014	35	2		2	CASS4	20	55021057	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08		55021057	8004463	70	6785											
CDKL5	6792	broad.mit.edu	37	chrX	18622176	18622176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttgctggagctagtcttagtCcactgcacaccaaaacctac	11	10	7	13	0	1	0	0	0	1	0	2	1	2	1	3	1	5	3	3	1	5	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:18622176C>G	uc004cym.3	+	11	1385	c.1132C>G	c.(1132-1134)Cca>Gca	p.P378A	CDKL5_uc004cyn.3_Missense_Mutation_p.P378A|CDKL5_uc022btn.1_Missense_Mutation_p.P369A	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	378					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TAGTCTTAGTCCACTGCACAC	0.522													G	18622176	C	G	18622176	3	3	101	1	0	0	0	0	1	0	0	0	3187	855	30	4	1174	4	CDKL5	23	18622176	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08		18622176	136648384	71	6786											
PHEX	5251	broad.mit.edu	37	chrX	22051086	22051086	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagccaccaaaccacgaaaAgtgactttcttctcgtgtgc	11	9	7	14	2	2	1	0	1	2	0	3	2	2	1	4	0	3	0	4	0	3	2			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:22051086A>T	uc004dah.3	+	0					PHEX_uc011mjr.2_5'UTR	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.						biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AACCACGAAAAGTGACTTTCT	0.502													T	22051086	A	T	22051086	1	4	101	1	0	0	0	0	0	0	0	0	11896	87	3	5		5	PHEX	23	22051086	Translation_Start_Site	SNP	A	TCGA-06-6391-01A-11D-1696-08	3428910	22051086	133219474	72	6787											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998447	27998447	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atagagattgtatacagtccGactttcttatcattttctct	10	18	5	8	1	3	1	1	0	2	1	5	3	4	1	1	0	1	1	1	0	4	8			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:27998447G>C	uc004dbx.1	-	0	1120	c.1005C>G	c.(1003-1005)gtC>gtG	p.V335V		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	335								p.V335V(2)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TATACAGTCCGACTTTCTTAT	0.418													C	27998447	G	C	27998447	2	2	101	1	0	0	0	0	0	0	0	1	4311	1045	37	4		4	DCAF8L1	23	27998447	Silent	SNP	G	TCGA-06-6391-01A-11D-1696-08	5947361	27998447	127272113	73	6788											
CXorf22	170063	broad.mit.edu	37	chrX	35966473	35966473	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggccaattacccatcctcaTttttccaactagtggtatcg	9	13	6	13	2	1	0	1	0	0	0	4	0	3	0	4	2	2	1	4	2	5	5			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:35966473T>A	uc004ddj.3	+	3	626	c.560T>A	c.(559-561)aTt>aAt	p.I187N	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	187										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CCCATCCTCATTTTTCCAACT	0.403													A	35966473	T	A	35966473	3	1	101	1	0	0	0	0	1	0	0	0	4135	1493	52	5	574	5	CXorf22	23	35966473	Missense_Mutation	SNP	T	TCGA-06-6391-01A-11D-1696-08	7968026	35966473	119304087	74	6789											
OTC	5009	broad.mit.edu	37	chrX	38260563	38260563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggcagatgcagtattggctcGagtgtataaacaatcagatt	13	11	11	6	1	1	2	1	0	0	2	2	3	1	2	0	2	2	5	0	2	5	5	rs68026851		TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:38260563G>C	uc004def.4	+	4	636	c.422G>C	c.(421-423)cGa>cCa	p.R141P		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	141			R -> P (in OTCD).|R -> Q (in OTCD; activity is 100-fold lower; most common point mutation).		arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	GTATTGGCTCGAGTGTATAAA	0.378													C	38260563	G	C	38260563	3	2	101	1	0	0	0	0	1	0	0	0	11377	1058	37	4	440	4	OTC	23	38260563	Missense_Mutation	SNP	G	TCGA-06-6391-01A-11D-1696-08	2294090	38260563	117009997	75	6790											
MAOB	4129	broad.mit.edu	37	chrX	43626865	43626865	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatgggctgtgcagggacatCctaggttcagaaaacattgg	11	9	14	7	0	1	1	1	0	0	1	2	3	2	2	1	4	2	3	1	4	3	3			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:43626865C>G	uc004dfz.4	-	15	1587	c.1411_splice	c.e15-1	p.D471_splice	MAOB_uc011mkx.2_Splice_Site|MAOB_uc011mky.2_Splice_Site_p.D455_splice	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	471					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	GCAGGGACATCCTAGGTTCAG	0.493													G	43626865	C	G	43626865	3	3	101	1	0	0	0	0	1	0	0	0	9301	869	30	4	155	4	MAOB	23	43626865	Missense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	5366302	43626865	111643695	76	6791											
ATRX	546	broad.mit.edu	37	chrX	76938530	76938530	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactcatcctgctcacctCtttgaggattgctagcattt	7	15	8	11	0	3	2	2	2	1	0	4	3	4	3	2	1	3	3	2	1	1	4			TCGA-06-6391-01A-11D-1696-08	TCGA-06-6391-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40fc77dc-46df-4487-925f-1d87c5326661	db316976-37ef-47d9-b41d-895875794399	g.chrX:76938530C>A	uc004ecp.4	-	8	2450	c.2218G>T	c.(2218-2220)Gag>Tag	p.E740*	ATRX_uc004ecq.4_Nonsense_Mutation_p.E702*|ATRX_uc004eco.4_Nonsense_Mutation_p.E525*|ATRX_uc004ecr.2_Nonsense_Mutation_p.E672*|ATRX_uc010nlx.1_Nonsense_Mutation_p.E711*|ATRX_uc010nly.1_Nonsense_Mutation_p.E685*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	740			E -> G (in dbSNP:rs1051680).		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)	CTGCTCACCTCTTTGAGGATT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938530	C	A	76938530	4	1	101	1	0	0	0	0	0	1	0	0	1213	922	32	4	5368	4	ATRX	23	76938530	Nonsense_Mutation	SNP	C	TCGA-06-6391-01A-11D-1696-08	33311665	76938530	78332030	77	6792											
AGRN	375790	broad.mit.edu	37	chr1	985841	985841	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtcgtgttcctggcaCgaggccccagcggcctcctg	4	8	15	14	3	0	0	0	0	0	0	3	2	2	1	5	5	1	2	5	5	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:985841C>T	uc001ack.2	+	28	5061	c.5011C>T	c.(5011-5013)Cga>Tga	p.R1671*		NM_198576	NP_940978	O00468	AGRIN_HUMAN	Homo sapiens agrin (AGRN), mRNA.	1671	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GTTCCTGGCACGAGGCCCCAG	0.677													T	985841	C	T	985841	4	4	102	1	0	0	0	0	0	1	0	0	397	528	19	1	5125	1	AGRN	1	985841	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		985841	248264780	1	6793											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917716	156917716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaaggagggtatctGtgcagaaccccaaactgggg	10	6	18	7	0	1	1	0	0	1	1	1	3	1	3	2	7	3	2	2	7	4	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:156917716G>A	uc001fqo.3	-	23	3106	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	ARHGEF11_uc010phu.2_Missense_Mutation_p.T105I|ARHGEF11_uc001fqn.3_Missense_Mutation_p.T729I	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	689					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAGGGTATCTGTGCAGAACCC	0.562													A	156917716	G	A	156917716	3	1	102	1	0	0	0	0	1	0	0	0	899	1377	48	2	2570	2	ARHGEF11	1	156917716	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	155931875	156917716	92332905	2	6794											
OBSCN	84033	broad.mit.edu	37	chr1	228494214	228494214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcaggccaatgggcGccgggagccacggcttcagg	7	4	17	13	3	1	0	1	0	0	0	1	1	1	1	3	5	3	4	3	5	1	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr1:228494214G>A	uc009xez.1	+	43	11845	c.11801G>A	c.(11800-11802)cGc>cAc	p.R3934H	OBSCN_uc001hsn.3_Missense_Mutation_p.R3934H	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3934	Ig-like 40.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCAATGGGCGCCGGGAGCCA	0.652													A	228494214	G	A	228494214	3	1	102	1	0	0	0	0	1	0	0	0	10888	1087	38	1	11971	1	OBSCN	1	228494214	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	71576498	228494214	20756407	3	6795											
SH3RF3	344558	broad.mit.edu	37	chr2	110015136	110015136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccctgccctctgactccGgcgctgtggccagcgtggcc	2	8	12	19	3	1	1	0	1	1	0	3	1	3	1	6	3	2	1	6	3	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:110015136G>A	uc010ywt.1	+	3	1036	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S		NM_001099289	NP_001092759	Q8TEJ3	SH3R3_HUMAN	Homo sapiens SH3 domain containing ring finger 3 (SH3RF3), mRNA.	346							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						CTCTGACTCCGGCGCTGTGGC	0.602													A	110015136	G	A	110015136	3	1	102	1	0	0	0	0	1	0	0	0	14354	1116	39	1	1050	1	SH3RF3	2	110015136	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		110015136	133184237	4	6796											
TMEM163	81615	broad.mit.edu	37	chr2	135470799	135470799	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcgagggccagggtgAcaatgatggagaaccaggac	12	3	15	11	2	0	3	0	2	0	1	0	6	0	4	4	4	1	0	4	4	2	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr2:135470799A>G	uc002ttx.3	-	1	359	c.293T>C	c.(292-294)gTc>gCc	p.V98A	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	98						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GGCCAGGGTGACAATGATGGA	0.517													G	135470799	A	G	135470799	3	3	102	1	0	0	0	0	1	0	0	0	16178	275	10	3	604	3	TMEM163	2	135470799	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	25455663	135470799	107728574	5	6797											
PROS1	5627	broad.mit.edu	37	chr3	93646100	93646100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataaatgcttaccgtttcCgggtcattttcaaagacctc	10	13	6	12	2	2	1	2	0	0	1	4	1	3	1	4	1	2	2	4	1	4	5	rs6121	by1000genomes	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:93646100C>T	uc003drb.4	-	1	569	c.228G>A	c.(226-228)ccG>ccA	p.P76P	PROS1_uc010hoo.3_5'UTR|PROS1_uc003dqz.4_5'UTR	NM_000313	NP_000304	P07225	PROS_HUMAN	Homo sapiens protein S (alpha) (PROS1), mRNA.	76	Gla.		P -> L.		leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity	p.D75Y(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTACCGTTTCCGGGTCATTTT	0.388													T	93646100	C	T	93646100	2	4	102	1	0	0	0	0	0	0	0	1	12644	639	23	1		1	PROS1	3	93646100	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		93646100	104376330	6	6798											
TNIK	23043	broad.mit.edu	37	chr3	170819385	170819385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtttgtttcttcaatcCggagttctcttagttctttg	4	19	10	8	2	4	0	1	0	3	0	6	1	5	1	1	3	0	4	1	3	2	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr3:170819385C>T	uc003fhh.2	-	21	2789	c.2444G>A	c.(2443-2445)cGg>cAg	p.R815Q	TNIK_uc003fhi.2_Missense_Mutation_p.R760Q|TNIK_uc003fhj.2_Missense_Mutation_p.R786Q|TNIK_uc003fhk.2_Missense_Mutation_p.R807Q|TNIK_uc003fhl.2_Missense_Mutation_p.R731Q|TNIK_uc003fhm.2_Missense_Mutation_p.R752Q|TNIK_uc003fhn.2_Missense_Mutation_p.R778Q|TNIK_uc003fho.2_Missense_Mutation_p.R723Q|TNIK_uc003fhg.2_5'UTR	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	815	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			TTCTTCAATCCGGAGTTCTCT	0.453													T	170819385	C	T	170819385	3	4	102	1	0	0	0	0	1	0	0	0	16413	652	23	1	1686	1	TNIK	3	170819385	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	77173285	170819385	27203045	7	6799											
ARAP2	116984	broad.mit.edu	37	chr4	36085016	36085016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaggcttcattttctttttCactccacgataaaacttcat	10	16	5	10	1	4	0	3	0	1	0	5	2	5	1	1	2	1	1	1	2	2	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:36085016C>T	uc003gsq.2	-	28	4820	c.4482G>A	c.(4480-4482)gtG>gtA	p.V1494V		NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	1494	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTTCTTTTTCACTCCACGAT	0.313													T	36085016	C	T	36085016	2	4	102	1	0	0	0	0	0	0	0	1	842	813	29	2		2	ARAP2	4	36085016	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		36085016	155069260	8	6800											
FRAS1	80144	broad.mit.edu	37	chr4	79204019	79204019	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaaggtgtgtgagtgcCgaggggctcaggtaacttgc	7	10	16	8	1	1	1	1	1	0	0	1	2	1	1	1	4	4	3	1	4	2	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:79204019C>T	uc003hlb.2	+	11	1593	c.1153C>T	c.(1153-1155)Cga>Tga	p.R385*	FRAS1_uc003hkw.3_Nonsense_Mutation_p.R385*|FRAS1_uc003hky.1_Nonsense_Mutation_p.R89*|FRAS1_uc003hkz.3_Nonsense_Mutation_p.R89*	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	385	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding	p.R385R(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTGAGTGCCGAGGGGCTCA	0.537													T	79204019	C	T	79204019	4	4	102	1	0	0	0	0	0	1	0	0	6093	644	23	1	1199	1	FRAS1	4	79204019	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	43119003	79204019	111950257	9	6801											
HPGD	3248	broad.mit.edu	37	chr4	175439163	175439163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagtttttctcattatTcactccagcattattgacca	9	17	3	12	0	2	1	2	1	1	0	5	1	4	1	3	0	1	2	3	0	2	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr4:175439163T>A	uc003itu.2	-	2	473	c.283A>T	c.(283-285)Aat>Tat	p.N95Y	HPGD_uc003itv.2_Missense_Mutation_p.N95Y|HPGD_uc011ckf.1_Intron|HPGD_uc010irq.2_Missense_Mutation_p.N95Y|HPGD_uc011ckg.1_Intron|HPGD_uc011ckh.1_5'UTR	NM_000860	NP_000851	P15428	PGDH_HUMAN	Homo sapiens hydroxyprostaglandin dehydrogenase 15-(NAD) (HPGD), transcript variant 1, mRNA.	95					female pregnancy|lipoxygenase pathway|negative regulation of cell cycle|parturition|prostaglandin metabolic process|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|NAD+ binding|prostaglandin E receptor activity|protein homodimerization activity			kidney(1)|lung(3)|prostate(3)	7		Prostate(90;0.00763)|Melanoma(52;0.0179)|Renal(120;0.0376)|Breast(14;0.0991)|all_hematologic(60;0.124)|all_neural(102;0.196)		all cancers(43;2.6e-18)|Epithelial(43;4.19e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.23e-09)|GBM - Glioblastoma multiforme(59;0.00176)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.0253)	NADH(DB00157)	TTCTCATTATTCACTCCAGCA	0.279													A	175439163	T	A	175439163	3	1	102	1	0	0	0	0	1	0	0	0	7389	1783	62	5	537	5	HPGD	4	175439163	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	96235144	175439163	15715113	10	6802											
PLCXD3	345557	broad.mit.edu	37	chr5	41382349	41382349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttatggtgatctgtgaggaAtgcattgatctcctcaaggc	9	13	11	8	0	3	3	1	3	2	0	4	4	3	4	1	3	1	1	1	3	3	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr5:41382349A>G	uc003jmm.1	-	1	493	c.391T>C	c.(391-393)Ttc>Ctc	p.F131L		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	131	PI-PLC X-box.				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						TCTGTGAGGAATGCATTGATC	0.433													G	41382349	A	G	41382349	3	3	102	1	0	0	0	0	1	0	0	0	12120	101	4	3	582	3	PLCXD3	5	41382349	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08		41382349	139532911	11	6803											
RSPO3	84870	broad.mit.edu	37	chr6	127469958	127469958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtggatattatggaactcGatatccagatataaataagt	17	12	8	4	1	0	1	0	0	0	1	2	4	1	3	1	2	1	0	1	2	9	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:127469958G>A	uc003qas.1	+	1	553	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	RSPO3_uc003qar.3_Missense_Mutation_p.R88Q	NM_032784	NP_116173	Q9BXY4	RSPO3_HUMAN	Homo sapiens R-spondin 3 (RSPO3), mRNA.	88						extracellular region	heparin binding	p.R88*(1)	PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		TATGGAACTCGATATCCAGAT	0.363													A	127469958	G	A	127469958	3	1	102	1	0	0	0	0	1	0	0	0	13802	1058	37	1	269	1	RSPO3	6	127469958	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		127469958	43645109	12	6804											
ZBTB2	57621	broad.mit.edu	37	chr6	151687542	151687542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaagatgcttccagattgGtctcctccccgggaggaggg	8	8	15	10	1	1	2	0	0	1	2	4	5	3	5	4	5	1	1	4	5	1	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr6:151687542G>T	uc003qoh.3	-	2	794	c.659C>A	c.(658-660)aCc>aAc	p.T220N		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		TTCCAGATTGGTCTCCTCCCC	0.552													T	151687542	G	T	151687542	3	4	102	1	0	0	0	0	1	0	0	0	17629	1261	44	4	889	4	ZBTB2	6	151687542	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	24217584	151687542	19427525	13	6805											
MACC1	346389	broad.mit.edu	37	chr7	20180649	20180649	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaaactccagttaattCtctccagtgtttagtcacag	12	15	5	9	0	2	0	1	0	1	0	5	0	4	0	2	0	1	2	2	0	5	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:20180649C>A	uc003sus.4	-	6	2788	c.2479G>T	c.(2479-2481)Gaa>Taa	p.E827*	MACC1_uc010kug.3_Nonsense_Mutation_p.E827*	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	827					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGTTAATTCTCTCCAGTGT	0.383													A	20180649	C	A	20180649	4	1	102	1	0	0	0	0	0	1	0	0	9214	922	32	4	83	4	MACC1	7	20180649	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		20180649	138958014	14	6806											
EGFR	1956	broad.mit.edu	37	chr7	55221763	55221763	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgccccccactcatgctCtacaaccccaccacgtacca	10	6	3	22	1	2	0	1	0	1	0	2	0	2	0	8	0	5	2	8	0	3	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:55221763C>G	uc003tqk.3	+	6	1053	c.807C>G	c.(805-807)ctC>ctG	p.L269L	EGFR_uc003tqh.3_Silent_p.L269L|EGFR_uc003tqi.3_Silent_p.L269L|EGFR_uc003tqj.3_Silent_p.L269L|EGFR_uc022adm.1_Silent_p.L269L|EGFR_uc010kzg.2_Silent_p.L224L|EGFR_uc022adn.1_Silent_p.L224L|EGFR_uc011kco.2_Silent_p.L216L|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	269					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACTCATGCTCTACAACCCCA	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55221763	C	G	55221763	2	3	102	1	0	0	0	0	0	0	0	1	5006	900	32	4		4	EGFR	7	55221763	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	35041114	55221763	103916900	15	6807											
EPHA1	2041	broad.mit.edu	37	chr7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccgggttgtggaaagCgaggtagaggccacggcggg	8	4	20	9	4	0	1	0	0	0	1	0	3	0	2	2	7	1	3	2	7	2	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr7:143097029C>T	uc003wcz.3	-	3	637	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	184						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617													T	143097029	C	T	143097029	3	4	102	1	0	0	0	0	1	0	0	0	5206	768	27	1	2440	1	EPHA1	7	143097029	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	87875266	143097029	16041634	16	6808											
BNC2	54796	broad.mit.edu	37	chr9	16437497	16437497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgagacatgatggcccagCggtccagcaccttgccagca	9	6	11	15	2	0	2	0	1	0	1	2	3	1	2	4	2	4	2	4	2	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:16437497C>T	uc003zml.3	-	5	835	c.695G>A	c.(694-696)cGc>cAc	p.R232H	BNC2_uc011lmw.2_Missense_Mutation_p.R137H|BNC2_uc003zmm.3_Missense_Mutation_p.R190H|BNC2_uc003zmq.1_Missense_Mutation_p.R246H|BNC2_uc003zmr.1_Missense_Mutation_p.R269H|BNC2_uc003zmp.1_Missense_Mutation_p.R260H|BNC2_uc010mij.1_Missense_Mutation_p.R154H|BNC2_uc011lmv.2_Missense_Mutation_p.R58H|BNC2_uc003zmo.1_Missense_Mutation_p.R154H|BNC2_uc003zmj.3_5'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_5'UTR|BNC2_uc003zmn.1_5'UTR	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GATGGCCCAGCGGTCCAGCAC	0.448													T	16437497	C	T	16437497	3	4	102	1	0	0	0	0	1	0	0	0	1481	768	27	1	2612	1	BNC2	9	16437497	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		16437497	124775934	17	6809											
NOL8	55035	broad.mit.edu	37	chr9	95078415	95078415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattttgagggatcatatttGatgatgttacgcaagtcaag	12	15	10	4	1	2	3	2	3	0	0	2	4	2	4	0	1	1	2	0	1	5	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:95078415G>C	uc022bjx.1	-	6	829	c.492C>G	c.(490-492)atC>atG	p.I164M	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.I96M	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	164					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GATCATATTTGATGATGTTAC	0.358													C	95078415	G	C	95078415	3	2	102	1	0	0	0	0	1	0	0	0	10603	1280	45	4	3055	4	NOL8	9	95078415	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	78640918	95078415	46135016	18	6810											
KIAA0368	23392	broad.mit.edu	37	chr9	114145511	114145511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagggctcgaacttccgtCacggtgctcatcattccttt	6	13	9	13	3	3	1	3	1	0	0	6	2	5	1	2	2	2	2	2	2	1	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr9:114145511C>T	uc004bfe.1	-	35	4317	c.4317G>A	c.(4315-4317)gtG>gtA	p.V1439V		NM_001080398	NP_001073867			Homo sapiens KIAA0368 (KIAA0368), mRNA.											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GAACTTCCGTCACGGTGCTCA	0.483													T	114145511	C	T	114145511	2	4	102	1	0	0	0	0	0	0	0	1	8229	813	29	2		2	KIAA0368	9	114145511	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	19067096	114145511	27067920	19	6811											
DIP2C	22982	broad.mit.edu	37	chr10	395316	395316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgccgtcctgaaggtggcCcctctccatcagcatcacgg	6	8	11	16	3	3	1	2	1	1	0	6	1	4	1	5	3	1	1	5	3	1	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:395316C>T	uc001ifp.3	-	24	3154	c.3064G>A	c.(3064-3066)Ggc>Agc	p.G1022S	DIP2C_uc009xhi.1_Missense_Mutation_p.G408S	NM_014974	NP_055789	Q9Y2E4	DIP2C_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog C (Drosophila) (DIP2C), mRNA.	1022						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGAAGGTGGCCCCTCTCCATC	0.652													T	395316	C	T	395316	3	4	102	1	0	0	0	0	1	0	0	0	4568	623	22	2	1658	2	DIP2C	10	395316	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		395316	135139431	20	6812											
CALY	50632	broad.mit.edu	37	chr10	135142374	135142374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctggtcagggagtggCggctggagctggctgatgtc	5	9	17	10	1	2	1	2	1	0	0	3	3	2	3	1	6	1	3	1	6	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr10:135142374C>T	uc001lmo.2	-	1	278	c.120G>A	c.(118-120)ccG>ccA	p.P40P	ZNF511_uc021qbf.1_Intron	NM_015722	NP_056537	Q9NYX4	CALY_HUMAN	Homo sapiens calcyon neuron-specific vesicular protein (CALY), mRNA.	40					clathrin coat assembly|dopamine receptor signaling pathway|endocytosis|positive regulation of endocytosis	cytoplasmic vesicle membrane|integral to plasma membrane	clathrin light chain binding|dopamine receptor binding			kidney(1)|lung(2)	3		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;6.94e-06)|OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)	Apomorphine(DB00714)|Clozapine(DB00363)|Flupenthixol(DB00875)|Trifluoperazine(DB00831)	CAGGGAGTGGCGGCTGGAGCT	0.637													T	135142374	C	T	135142374	2	4	102	1	0	0	0	0	0	0	0	1	2621	755	27	1		1	CALY	10	135142374	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	134747058	135142374	392373	21	6813											
ANO9	338440	broad.mit.edu	37	chr11	419726	419726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccagcacctgcagccagGtccctgcaccagagcagtgg	8	6	11	16	0	1	1	0	0	1	1	3	1	2	1	5	2	5	4	5	2	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:419726G>T	uc001lpi.2	-	19	1875	c.1790C>A	c.(1789-1791)aCc>aAc	p.T597N	SIGIRR_uc001lpf.2_5'Flank|SIGIRR_uc001lpe.1_5'Flank|ANO9_uc001lph.2_Missense_Mutation_p.T290N|ANO9_uc010qvv.1_Missense_Mutation_p.T453N	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	597						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTGCAGCCAGGTCCCTGCACC	0.637													T	419726	G	T	419726	3	4	102	1	0	0	0	0	1	0	0	0	704	1261	44	4	574	4	ANO9	11	419726	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		419726	134586790	22	6814											
CHRNA10	57053	broad.mit.edu	37	chr11	3688571	3688571	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccttctcgcctgagtcGgcaggcaggtggaaggcgag	8	6	16	11	3	1	1	0	1	1	0	3	4	1	2	2	5	0	2	2	5	1	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:3688571G>A	uc001lyf.3	-	3	858	c.786C>T	c.(784-786)gcC>gcT	p.A262A	CHRNA10_uc010qxt.2_Silent_p.A56A|CHRNA10_uc010qxu.2_Silent_p.A56A	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	262					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CGCCTGAGTCGGCAGGCAGGT	0.706													A	3688571	G	A	3688571	2	1	102	1	0	0	0	0	0	0	0	1	3412	1103	39	1		1	CHRNA10	11	3688571	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	3268845	3688571	131317945	23	6815											
OR52E4	390081	broad.mit.edu	37	chr11	5906315	5906315	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttttatgacacatcgtTttggccaaaacattccccac	10	15	4	12	1	1	1	0	1	1	0	3	1	2	1	3	1	1	1	3	1	3	6			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:5906315T>A	uc010qzs.2	+	0	793	c.793T>A	c.(793-795)Ttt>Att	p.F265I	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACACATCGTTTTGGCCAAAA	0.423													A	5906315	T	A	5906315	3	1	102	1	0	0	0	0	1	0	0	0	11192	1841	64	5	795	5	OR52E4	11	5906315	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	2217744	5906315	129100201	24	6816											
OR5L1	219437	broad.mit.edu	37	chr11	55579782	55579782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccgtgttctacacagtCgtgattcctatgctgaactc	8	12	8	13	2	1	2	0	2	1	0	4	2	2	2	3	0	3	2	3	0	3	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:55579782C>T	uc001nhw.1	+	0	840	c.840C>T	c.(838-840)gtC>gtT	p.V280V		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TCTACACAGTCGTGATTCCTA	0.453													T	55579782	C	T	55579782	2	4	102	1	0	0	0	0	0	0	0	1	11246	871	31	1		1	OR5L1	11	55579782	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	49673467	55579782	79426734	25	6817											
PACS1	55690	broad.mit.edu	37	chr11	65977846	65977846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcagggttcaaaaagaaTtcttcgctccaacgagatcg	12	11	9	9	3	3	2	2	0	1	2	6	3	4	2	1	1	1	3	1	1	4	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:65977846T>C	uc001oha.2	+	2	592	c.458T>C	c.(457-459)aTt>aCt	p.I153T	PACS1_uc001ogz.1_Missense_Mutation_p.I153T	NM_018026	NP_060496	Q6VY07	PACS1_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 1 (PACS1), mRNA.	153					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						TCAAAAAGAATTCTTCGCTCC	0.502													C	65977846	T	C	65977846	3	2	102	1	0	0	0	0	1	0	0	0	11448	1493	52	3	468	3	PACS1	11	65977846	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	10398064	65977846	69028670	26	6818											
KIAA1377	57562	broad.mit.edu	37	chr11	101818772	101818772	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctttagtttcccgaaaAccagttcctccattagaaga	12	13	5	11	1	1	2	0	0	1	2	5	3	4	2	4	0	1	2	4	0	5	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:101818772A>G	uc001pgm.3	+	3	675	c.405A>G	c.(403-405)aaA>aaG	p.K135K	KIAA1377_uc001pgn.3_Silent_p.K91K|KIAA1377_uc009yxa.1_5'UTR	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	135							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TTTCCCGAAAACCAGTTCCTC	0.343													G	101818772	A	G	101818772	2	3	102	1	0	0	0	0	0	0	0	1	8285	40	2	3		3	KIAA1377	11	101818772	Silent	SNP	A	TCGA-06-6693-01A-11D-1845-08	35840926	101818772	33187744	27	6819											
OR6M1	390261	broad.mit.edu	37	chr11	123676994	123676994	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccacgaagagagatattcGaatctccaggagagctggga	15	6	12	8	2	1	3	0	0	1	3	3	8	1	4	2	2	2	1	2	2	4	2	rs150135307		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr11:123676994G>A	uc010rzz.2	-	0	64	c.64C>T	c.(64-66)Cga>Tga	p.R22*		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		AGAGATATTCGAATCTCCAGG	0.458													A	123676994	G	A	123676994	4	1	102	1	0	0	0	0	0	1	0	0	11281	1066	37	1	880	1	OR6M1	11	123676994	Nonsense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	21858222	123676994	11329522	28	6820											
PPP1R12A	4659	broad.mit.edu	37	chr12	80191152	80191152	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctattgttttctcagcttcTtgaagatcagttaatgtcac	9	17	6	9	0	4	2	3	1	2	1	5	2	4	2	1	0	1	3	1	0	3	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr12:80191152T>C	uc001syz.3	-	15	2382	c.2115A>G	c.(2113-2115)caA>caG	p.Q705Q	PPP1R12A_uc010suc.2_Silent_p.Q618Q|PPP1R12A_uc001sza.3_Silent_p.Q649Q|PPP1R12A_uc010sud.2_Silent_p.Q705Q|PPP1R12A_uc001szb.3_Silent_p.Q705Q|PPP1R12A_uc001szc.2_Silent_p.Q646Q	NM_002480	NP_001137358	O14974	MYPT1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12A (PPP1R12A), transcript variant 1, mRNA.	705	Interaction with ROCK2.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						TCTCAGCTTCTTGAAGATCAG	0.318													C	80191152	T	C	80191152	2	2	102	1	0	0	0	0	0	0	0	1	12436	1606	56	3		3	PPP1R12A	12	80191152	Silent	SNP	T	TCGA-06-6693-01A-11D-1845-08		80191152	53660743	29	6821											
CLEC14A	161198	broad.mit.edu	37	chr14	38724093	38724093	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcgtagaattaaactTggaaatcacgctccctgatg	13	10	10	8	2	1	2	1	1	0	1	3	4	2	4	1	2	1	2	1	2	6	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724093T>A	uc001wum.1	-	0	1482	c.1135A>T	c.(1135-1137)Aag>Tag	p.K379*		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	379						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAATTAAACTTGGAAATCACG	0.502													A	38724093	T	A	38724093	4	1	102	1	0	0	0	0	0	1	0	0	3530	1821	63	5	341	5	CLEC14A	14	38724093	Nonsense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08		38724093	68625447	30	6822											
CLEC14A	161198	broad.mit.edu	37	chr14	38724649	38724649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagctggaagggcgcGcgatagctcaagttagaggc	9	7	16	9	3	1	1	1	0	0	1	1	3	1	2	0	3	3	4	0	3	4	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:38724649G>A	uc001wum.1	-	0	926	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	193						integral to membrane	sugar binding	p.R193R(2)|p.R193C(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGAAGGGCGCGCGATAGCTCA	0.647													A	38724649	G	A	38724649	2	1	102	1	0	0	0	0	0	0	0	1	3530	1074	38	1		1	CLEC14A	14	38724649	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	556	38724649	68624891	31	6823											
NIN	51199	broad.mit.edu	37	chr14	51227078	51227078	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcataatggcgcacCtgaaggcacagagtgacacc	11	9	10	11	1	1	3	1	2	0	1	1	3	1	3	2	2	1	3	2	2	2	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:51227078C>G	uc001wyi.3	-	17	2088	c.1897_splice	c.e17-1	p.V633_splice	NIN_uc001wyj.3_Splice_Site|NIN_uc001wym.2_Splice_Site_p.V633_splice|NIN_uc001wyk.3_Splice_Site_p.V633_splice|NIN_uc001wyo.3_Splice_Site_p.V633_splice	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	633					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					AATGGCGCACCTGAAGGCACA	0.453			T	PDGFRB	MPD								G	51227078	C	G	51227078	5	3	102	1	0	0	0	0	0	0	1	0	10493	695	24	4	4713	4	NIN	14	51227078	Splice_Site	SNP	C	TCGA-06-6693-01A-11D-1845-08	12502429	51227078	56122462	32	6824											
SIX4	51804	broad.mit.edu	37	chr14	61180418	61180418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaactatttccccaaGggcagcctgagtcataggga	11	9	12	9	0	1	1	1	1	0	0	2	3	2	3	3	3	2	2	3	3	5	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:61180418G>C	uc001xfc.3	-	2	2113	c.2053C>G	c.(2053-2055)Ctt>Gtt	p.L685V		NM_017420	NP_059116	Q9UIU6	SIX4_HUMAN	Homo sapiens SIX homeobox 4 (SIX4), mRNA.	685						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		ATTTCCCCAAGGGCAGCCTGA	0.473													C	61180418	G	C	61180418	3	2	102	1	0	0	0	0	1	0	0	0	14443	1000	35	4	296	4	SIX4	14	61180418	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	9953340	61180418	46169122	33	6825											
YY1	7528	broad.mit.edu	37	chr14	100705804	100705804	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccaccaccaccaccacCatcaccaccaccaccacccg	11	1	3	26	2	1	0	1	0	0	0	1	0	1	0	12	1	0	0	12	1	0	0			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr14:100705804C>G	uc001ygy.1	+	0	703	c.223C>G	c.(223-225)Cat>Gat	p.H75D		NM_003403	NP_003394	P25490	TYY1_HUMAN	Homo sapiens YY1 transcription factor (YY1), mRNA.	75	Poly-His.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				ccaccaccaccatcaccacca	0.726													G	100705804	C	G	100705804	3	3	102	1	0	0	0	0	1	0	0	0	17609	594	21	4	225	4	YY1	14	100705804	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	39525386	100705804	6643736	34	6826											
BAHD1	22893	broad.mit.edu	37	chr15	40751318	40751318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctaaaactgagccaggagCgggagctacccctgcggctg	9	6	13	13	2	0	1	0	1	0	0	1	3	1	3	4	3	6	2	4	3	3	2	rs143744499		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:40751318C>T	uc001zlu.2	+	1	726	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	BAHD1_uc001zlt.2_Missense_Mutation_p.R219W|BAHD1_uc010bbp.1_Missense_Mutation_p.R219W|BAHD1_uc001zlv.2_Missense_Mutation_p.R219W	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	219					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GAGCCAGGAGCGGGAGCTACC	0.642													T	40751318	C	T	40751318	3	4	102	1	0	0	0	0	1	0	0	0	1302	759	27	1	657	1	BAHD1	15	40751318	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		40751318	61780074	35	6827											
VPS13C	54832	broad.mit.edu	37	chr15	62300907	62300907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtatttcctataaggCgcattcctaaccatataatc	11	14	6	10	1	0	0	0	0	0	0	3	0	2	0	3	2	1	3	3	2	6	9			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:62300907C>T	uc002agz.3	-	13	1156	c.1065G>A	c.(1063-1065)gcG>gcA	p.A355A	VPS13C_uc002aha.3_Silent_p.A312A|VPS13C_uc002ahb.2_Silent_p.A355A|VPS13C_uc002ahc.2_Silent_p.A312A	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	355					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCTATAAGGCGCATTCCTAA	0.289													T	62300907	C	T	62300907	2	4	102	1	0	0	0	0	0	0	0	1	17293	755	27	1		1	VPS13C	15	62300907	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	21549589	62300907	40230485	36	6828											
THSD4	79875	broad.mit.edu	37	chr15	72037463	72037463	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcgcagtaccctatttTccgctgtgtgcacagaagca	10	10	10	11	2	0	1	0	0	0	1	2	2	1	2	2	1	3	5	2	1	3	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:72037463T>C	uc002atb.1	+	10	2004	c.1925T>C	c.(1924-1926)tTc>tCc	p.F642S	THSD4_uc002ate.2_Missense_Mutation_p.F282S	NM_024817	NP_079093	Q6ZMP0	THSD4_HUMAN	Homo sapiens thrombospondin, type I, domain containing 4 (THSD4), mRNA.	642						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TACCCTATTTTCCGCTGTGTG	0.547													C	72037463	T	C	72037463	3	2	102	1	0	0	0	0	1	0	0	0	15978	1783	62	3	1967	3	THSD4	15	72037463	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	9736556	72037463	30493929	37	6829											
LRRK1	79705	broad.mit.edu	37	chr15	101569415	101569415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggccaagtttgagatcGccctgcccgtcgccaatgac	7	9	10	15	3	0	2	0	2	0	1	3	3	1	2	5	1	1	1	5	1	2	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr15:101569415G>A	uc002bwr.3	+	19	3260	c.2941G>A	c.(2941-2943)Gcc>Acc	p.A981T	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	981					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTTTGAGATCGCCCTGCCCGT	0.592													A	101569415	G	A	101569415	3	1	102	1	0	0	0	0	1	0	0	0	9102	1087	38	1	3015	1	LRRK1	15	101569415	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	29531952	101569415	961977	38	6830											
SRL	6345	broad.mit.edu	37	chr16	4245578	4245578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttgctgcttgcggttctCgatgatgcctggtgtatcca	4	16	11	10	2	2	1	0	1	2	0	4	2	3	1	2	2	4	4	2	2	1	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:4245578C>T	uc002cvz.4	-	4	599	c.586G>A	c.(586-588)Gag>Aag	p.E196K	SRL_uc002cvy.4_Non-coding_Transcript	NM_001098814	NP_001092284	Q86TD4	SRCA_HUMAN	Homo sapiens sarcalumenin (SRL), mRNA.	655	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity	p.I195I(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCGGTTCTCGATGATGCCT	0.443													T	4245578	C	T	4245578	3	4	102	1	0	0	0	0	1	0	0	0	15246	893	31	1	843	1	SRL	16	4245578	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08		4245578	86109175	39	6831											
CETP	1071	broad.mit.edu	37	chr16	57016107	57016107	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccgtccagagcttcctgCagtcaatgatcaccgctgtg	8	10	10	13	2	2	2	2	1	0	1	5	2	5	2	4	0	2	3	4	0	1	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:57016107C>T	uc002eki.2	+	13	1336	c.1279C>T	c.(1279-1281)Cag>Tag	p.Q427*	CETP_uc002ekj.2_Nonsense_Mutation_p.Q367*	NM_000078	NP_000069	P11597	CETP_HUMAN	Homo sapiens cholesteryl ester transfer protein, plasma (CETP), mRNA.	427					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						GAGCTTCCTGCAGTCAATGAT	0.582													T	57016107	C	T	57016107	4	4	102	1	0	0	0	0	0	1	0	0	3307	711	25	2	1333	2	CETP	16	57016107	Nonsense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	52770529	57016107	33338646	40	6832											
GALNS	2588	broad.mit.edu	37	chr16	88891241	88891241	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgctgcccgagggtggcCgccatcagcgtgtcgccacg	4	8	15	14	5	1	0	1	0	0	0	2	1	1	0	4	2	3	1	4	2	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr16:88891241C>T	uc010cid.3	-	11	1435	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	GALNS_uc002fly.4_Silent_p.A392A|GALNS_uc002flz.4_Silent_p.A75A			P34059	GALNS_HUMAN	Homo sapiens galactosamine (N-acetyl)-6-sulfate sulfatase (GALNS), mRNA.	392			H -> D (in MPS4A).			lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	CGAGGGTGGCCGCCATCAGCG	0.627													T	88891241	C	T	88891241	2	4	102	1	0	0	0	0	0	0	0	1	6260	639	23	1		1	GALNS	16	88891241	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08	31875134	88891241	1463512	41	6833											
DNAH2	146754	broad.mit.edu	37	chr17	7644166	7644166	+	Frame_Shift_Del	DEL	C	C	-																															gacaagaaggcggtggatctCtacatgctgttcaatagcga																										TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:7644166delC	uc002giu.1	+	9	1559	c.1545delC	c.(1543-1545)ctcfs	p.L515fs	DNAH2_uc002git.3_Frame_Shift_Del_p.L597fs|DNAH2_uc010vuk.2_Frame_Shift_Del_p.L515fs	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	515	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGGTGGATCTCTACATGCTGT	0.587													-	7644166	C	-	7644166	7	5	102	1	0	1	0	1	0	0	0	0	4641	900	32	0	1583	0	DNAH2	17	7644166	Frame_Shift_Del	DEL	C	TCGA-06-6693-01A-11D-1845-08		7644166	73551044	42	6834											
CRLF3	51379	broad.mit.edu	37	chr17	29119557	29119557	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctatatttcttcgactgCtcagactgtacccctcaaaa	10	13	6	12	1	3	1	2	0	1	1	4	2	3	1	2	0	3	3	2	0	5	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:29119557C>G	uc002hfr.4	-	5	969	c.860G>C	c.(859-861)aGc>aCc	p.S287T	CRLF3_uc010wbr.2_Missense_Mutation_p.S171T	NM_015986	NP_057070	Q8IUI8	CRLF3_HUMAN	Homo sapiens cytokine receptor-like factor 3 (CRLF3), mRNA.	287					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				TCTTCGACTGCTCAGACTGTA	0.423													G	29119557	C	G	29119557	3	3	102	1	0	0	0	0	1	0	0	0	3919	797	28	4	480	4	CRLF3	17	29119557	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	21475391	29119557	52075653	43	6835											
TMEM106A	113277	broad.mit.edu	37	chr17	41365143	41365143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaaccagccattggcaGcaaggctgtcaactactcca	12	7	7	15	0	1	0	1	0	0	0	3	0	3	0	4	2	5	3	4	2	4	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:41365143G>A	uc002idn.1	+	2	320	c.83G>A	c.(82-84)aGc>aAc	p.S28N	TMEM106A_uc010why.1_Intron|TMEM106A_uc010cze.1_Missense_Mutation_p.S28N|TMEM106A_uc010whz.1_Missense_Mutation_p.S28N	NM_145041	NP_659478	Q96A25	T106A_HUMAN	Homo sapiens transmembrane protein 106A (TMEM106A), mRNA.	28						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		GCCATTGGCAGCAAGGCTGTC	0.547													A	41365143	G	A	41365143	3	1	102	1	0	0	0	0	1	0	0	0	16120	971	34	2	85	2	TMEM106A	17	41365143	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	12245586	41365143	39830067	44	6836											
CSH2	1443	broad.mit.edu	37	chr17	61949661	61949661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaggatctgcccagtcCggcggctgccgtcttccagc	4	9	13	15	3	2	1	0	1	2	0	4	2	4	2	4	3	3	2	4	3	0	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr17:61949661C>T	uc002jch.3	-	4	594	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CSH2_uc002jci.3_3'UTR|CSH2_uc002jcg.3_Missense_Mutation_p.R65Q	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	160					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						CTGCCCAGTCCGGCGGCTGCC	0.547													T	61949661	C	T	61949661	3	4	102	1	0	0	0	0	1	0	0	0	3974	652	23	1	178	1	CSH2	17	61949661	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	20584518	61949661	19245549	45	6837											
PDE4A	5141	broad.mit.edu	37	chr19	10561526	10561526	+	Frame_Shift_Del	DEL	C	C	-																															agaaacgtgtcagcagttggCccgggagactctggaggagc																										TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:10561526delC	uc002moj.2	+	5	800	c.692delC	c.(691-693)gccfs	p.A231fs	PDE4A_uc021uow.1_Frame_Shift_Del_p.A209fs|PDE4A_uc002mok.2_Frame_Shift_Del_p.A205fs|PDE4A_uc002mol.2_Frame_Shift_Del_p.A170fs|PDE4A_uc002mom.2_5'Flank	NM_001111307	NP_001104777	P27815	PDE4A_HUMAN	Homo sapiens phosphodiesterase 4A, cAMP-specific (PDE4A), transcript variant 1, mRNA.	231					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGCAGTTGGCCCGGGAGACT	0.612													-	10561526	C	-	10561526	7	5	102	1	0	1	0	1	0	0	0	0	11715	739	26	0	1101	0	PDE4A	19	10561526	Frame_Shift_Del	DEL	C	TCGA-06-6693-01A-11D-1845-08		10561526	48567457	46	6838											
FAM129C	199786	broad.mit.edu	37	chr19	17653014	17653014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccgtgaggccgagcggAgccgggggcgcttggggcag	5	4	21	11	5	0	1	0	1	0	0	0	3	0	2	3	6	3	3	3	6	1	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:17653014A>G	uc021uqj.1	+	10	1471	c.1333A>G	c.(1333-1335)Agc>Ggc	p.S445G	FAM129C_uc021uqi.1_Missense_Mutation_p.S445G|FAM129C_uc002ngy.4_Missense_Mutation_p.S171G|FAM129C_uc010xpu.2_Missense_Mutation_p.S171G|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_Missense_Mutation_p.S171G|FAM129C_uc002nhb.3_Missense_Mutation_p.S44G	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	445										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						GGCCGAGCGGAGCCGGGGGCG	0.612													G	17653014	A	G	17653014	3	3	102	1	0	0	0	0	1	0	0	0	5483	304	11	3	1375	3	FAM129C	19	17653014	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	7091488	17653014	41475969	47	6839											
ZNF208	7757	broad.mit.edu	37	chr19	22155056	22155056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactaaagactgacaaccagCtgaaggctttgccacattct	13	10	7	11	0	1	3	0	2	1	1	1	3	1	3	2	1	4	2	2	1	5	4			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:22155056C>T	uc021urr.1	-	3	2929	c.2780G>A	c.(2779-2781)aGc>aAc	p.S927N	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGACAACCAGCTGAAGGCTTT	0.393													T	22155056	C	T	22155056	3	4	102	1	0	0	0	0	1	0	0	0	17867	797	28	2	1066	2	ZNF208	19	22155056	Missense_Mutation	SNP	C	TCGA-06-6693-01A-11D-1845-08	4502042	22155056	36973927	48	6840											
ZNF180	7733	broad.mit.edu	37	chr19	44981361	44981361	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtttatagctctgcctgAatgactttccacattgattg	10	16	7	8	0	1	3	0	3	1	0	2	3	2	3	2	0	2	2	2	0	4	7			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr19:44981361A>C	uc002ozf.4	-	4	1619	c.1337T>G	c.(1336-1338)tTc>tGc	p.F446C	ZNF180_uc002ozh.4_Missense_Mutation_p.F103C|ZNF180_uc002ozi.4_Missense_Mutation_p.F419C|ZNF180_uc002ozg.4_Missense_Mutation_p.F445C|ZNF180_uc010ejm.3_Missense_Mutation_p.F421C	NM_013256	NP_037388	Q9UJW8	ZN180_HUMAN	Homo sapiens zinc finger protein 180 (ZNF180), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GCTCTGCCTGAATGACTTTCC	0.393													C	44981361	A	C	44981361	3	2	102	1	0	0	0	0	1	0	0	0	17849	246	9	5	745	5	ZNF180	19	44981361	Missense_Mutation	SNP	A	TCGA-06-6693-01A-11D-1845-08	22826305	44981361	14147622	49	6841											
TMC2	117532	broad.mit.edu	37	chr20	2616589	2616589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttggccatttactaccTgaactcagtttccaaaagcc	11	11	6	13	0	1	1	1	1	0	0	2	1	2	1	4	1	5	2	4	1	5	5			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:2616589T>A	uc002wgf.1	+	17	2339	c.2324T>A	c.(2323-2325)cTg>cAg	p.L775Q	TMC2_uc002wgg.1_Missense_Mutation_p.L759Q	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	775						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTTACTACCTGAACTCAGTT	0.502													A	2616589	T	A	2616589	3	1	102	1	0	0	0	0	1	0	0	0	16085	1580	55	5	2394	5	TMC2	20	2616589	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08		2616589	60408931	50	6842											
PLTP	5360	broad.mit.edu	37	chr20	44528299	44528299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccaatctgcagcatggtcTtcagaggggcctgtaatggg	8	9	13	11	0	3	1	1	0	2	1	3	1	3	1	3	4	2	3	3	4	2	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:44528299T>C	uc002xqm.2	-	12	1839	c.1304A>G	c.(1303-1305)aAg>aGg	p.K435R	PLTP_uc002xql.2_Missense_Mutation_p.K327R|PLTP_uc010zxj.2_Missense_Mutation_p.K320R|PLTP_uc002xqq.2_Missense_Mutation_p.K384R|PLTP_uc002xqn.2_Missense_Mutation_p.K415R|PLTP_uc002xqo.2_Missense_Mutation_p.K363R	NM_001242921	NP_001229850	P55058	PLTP_HUMAN	Homo sapiens phospholipid transfer protein (PLTP), transcript variant 4, mRNA.	415					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				CAGCATGGTCTTCAGAGGGGC	0.602													C	44528299	T	C	44528299	3	2	102	1	0	0	0	0	1	0	0	0	12191	1609	56	3	249	3	PLTP	20	44528299	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	41911710	44528299	18497221	51	6843											
ZGPAT	84619	broad.mit.edu	37	chr20	62367145	62367145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcaggcatagcgtggcGtcagcccagctgcaggagaa	9	5	14	13	3	1	1	1	0	0	1	2	2	2	1	2	3	4	4	2	3	2	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr20:62367145G>A	uc002ygk.3	+	6	1659	c.1470G>A	c.(1468-1470)gcG>gcA	p.A490A	ZGPAT_uc002ygi.2_Silent_p.A470A|ZGPAT_uc010gkk.2_Silent_p.A47A|ZGPAT_uc010gkl.2_Silent_p.A470A|ZGPAT_uc002ygm.3_Silent_p.A461A|ZGPAT_uc002ygj.2_Silent_p.A470A|ZGPAT_uc002ygn.4_Non-coding_Transcript|ZGPAT_uc011abi.2_5'UTR|ZGPAT_uc002ygp.4_5'UTR	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	490					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					ATAGCGTGGCGTCAGCCCAGC	0.692													A	62367145	G	A	62367145	2	1	102	1	0	0	0	0	0	0	0	1	17775	1132	40	1		1	ZGPAT	20	62367145	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	17838846	62367145	658375	52	6844											
UMODL1	89766	broad.mit.edu	37	chr21	43524008	43524008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcccaccagtggtgtctGacttgtaccgaagtgggaag	8	10	12	11	1	1	1	0	1	1	0	2	3	2	2	4	2	1	1	4	2	3	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524008G>C	uc002zag.1	+	8	1330	c.1330G>C	c.(1330-1332)Gac>Cac	p.D444H	UMODL1_uc002zad.1_Missense_Mutation_p.D372H|UMODL1_uc002zae.1_Missense_Mutation_p.D372H|UMODL1_uc002zaf.1_Missense_Mutation_p.D444H|UMODL1_uc010gow.1_Missense_Mutation_p.D236H|UMODL1_uc002zai.1_Missense_Mutation_p.D95H|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.D95H|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.D189H|C21orf128_uc002zak.2_Silent_p.V75V	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	444	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTGGTGTCTGACTTGTACCG	0.567													C	43524008	G	C	43524008	3	2	102	1	0	0	0	0	1	0	0	0	17082	1290	45	4	1364	4	UMODL1	21	43524008	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08		43524008	4605887	53	6845											
UMODL1	89766	broad.mit.edu	37	chr21	43524114	43524114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaccccgggtttcccatggGcatctccacgctggccccca	5	7	11	18	2	1	0	0	0	1	0	3	1	2	1	6	4	0	3	6	4	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:43524114G>C	uc002zag.1	+	8	1436	c.1436G>C	c.(1435-1437)gGc>gCc	p.G479A	UMODL1_uc002zad.1_Missense_Mutation_p.G407A|UMODL1_uc002zae.1_Missense_Mutation_p.G407A|UMODL1_uc002zaf.1_Missense_Mutation_p.G479A|UMODL1_uc010gow.1_Missense_Mutation_p.G271A|UMODL1_uc002zai.1_Missense_Mutation_p.G130A|UMODL1_uc010gox.1_Non-coding_Transcript|UMODL1_uc010goy.1_Missense_Mutation_p.G130A|UMODL1_uc002zaj.1_Non-coding_Transcript|UMODL1_uc010goz.1_Missense_Mutation_p.G224A|C21orf128_uc002zak.2_Missense_Mutation_p.A40G	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	479	SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TTTCCCATGGGCATCTCCACG	0.622													C	43524114	G	C	43524114	3	2	102	1	0	0	0	0	1	0	0	0	17082	1203	42	4	1470	4	UMODL1	21	43524114	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	106	43524114	4605781	54	6846											
TRPM2	7226	broad.mit.edu	37	chr21	45817635	45817635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggtccccagagccaGgactgcatcgcagcggcctt	6	8	11	16	2	1	1	0	0	1	1	4	2	3	2	5	3	3	2	5	3	0	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chr21:45817635G>C	uc010gpt.1	+	12	2038	c.1938G>C	c.(1936-1938)caG>caC	p.Q646H	TRPM2_uc002zet.1_Missense_Mutation_p.Q646H|TRPM2_uc002zeu.1_Missense_Mutation_p.Q646H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.Q646H|TRPM2_uc002zex.1_Missense_Mutation_p.Q432H|TRPM2_uc002zey.1_Missense_Mutation_p.Q159H	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	646						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.S645R(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCAGAGCCAGGACTGCATCG	0.627													C	45817635	G	C	45817635	3	2	102	1	0	0	0	0	1	0	0	0	16687	991	35	4	1988	4	TRPM2	21	45817635	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	2293521	45817635	2312260	55	6847											
PHEX	5251	broad.mit.edu	37	chrX	22132590	22132590	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggtaatccaggggacCacaactttgctgcctcaatg	11	8	9	13	0	1	0	1	0	0	0	2	1	2	1	4	3	3	2	4	3	3	2			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:22132590C>G	uc004dah.3	+	10	1391	c.1188C>G	c.(1186-1188)acC>acG	p.T396T	PHEX_uc011mjr.2_Silent_p.T396T|PHEX_uc011mjs.2_Silent_p.T299T	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	396					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TCCAGGGGACCACAACTTTGC	0.398													G	22132590	C	G	22132590	2	3	102	1	0	0	0	0	0	0	0	1	11896	581	21	4		4	PHEX	23	22132590	Silent	SNP	C	TCGA-06-6693-01A-11D-1845-08		22132590	133137970	56	6848											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999308	27999308	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtatcaccaccatctccGgtcgatggctctgtggctgc	5	11	11	14	2	3	0	1	0	2	0	5	1	3	0	3	4	1	3	3	4	1	1	rs147579544	byFrequency	TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:27999308G>A	uc004dbx.1	-	0	259	c.144C>T	c.(142-144)acC>acT	p.T48T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	48										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CACCATCTCCGGTCGATGGCT	0.532													A	27999308	G	A	27999308	2	1	102	1	0	0	0	0	0	0	0	1	4311	1103	39	1		1	DCAF8L1	23	27999308	Silent	SNP	G	TCGA-06-6693-01A-11D-1845-08	5866718	27999308	127271252	57	6849											
MAGEB16	139604	broad.mit.edu	37	chrX	35821053	35821053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcatctttggagagcccaGaatgctcatcaccaaagatt	12	11	7	11	0	4	3	3	0	1	3	4	4	4	3	2	1	2	1	2	1	2	3			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:35821053G>A	uc010ngt.1	+	1	1019	c.740G>A	c.(739-741)aGa>aAa	p.R247K	MAGEB16_uc022bus.1_Missense_Mutation_p.R247K	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	247	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGAGAGCCCAGAATGCTCATC	0.493													A	35821053	G	A	35821053	3	1	102	1	0	0	0	0	1	0	0	0	9249	942	33	2	742	2	MAGEB16	23	35821053	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	7821745	35821053	119449507	58	6850											
GPR82	27197	broad.mit.edu	37	chrX	41587247	41587247	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaagacactatataatcTctttacaaagtctaattcag	17	12	4	8	0	3	2	1	0	2	2	4	2	3	2	0	0	1	0	0	0	8	7	rs144887525		TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:41587247T>G	uc022bvd.1	+	0	968	c.968T>G	c.(967-969)cTc>cGc	p.L323R	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR82_uc004dfu.1_Non-coding_Transcript|GPR82_uc004dft.3_Missense_Mutation_p.L323R	NM_080817	NP_543007	Q96P67	GPR82_HUMAN	Homo sapiens G protein-coupled receptor 82 (GPR82), mRNA.	323						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	10						CTATATAATCTCTTTACAAAG	0.333													G	41587247	T	G	41587247	3	3	102	1	0	0	0	0	1	0	0	0	6766	1551	54	5	970	5	GPR82	23	41587247	Missense_Mutation	SNP	T	TCGA-06-6693-01A-11D-1845-08	5766194	41587247	113683313	59	6851											
MAGIX	79917	broad.mit.edu	37	chrX	49021421	49021421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcacagcgctgtggtcGtttggaggtgagccctgaag	7	8	15	11	2	0	2	0	2	0	0	1	3	0	3	2	3	3	3	2	3	1	1			TCGA-06-6693-01A-11D-1845-08	TCGA-06-6693-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45ca8f53-6d0e-4659-a81f-258184b7a70e	244e9dd6-f856-48eb-8288-66cad9fd3ea2	g.chrX:49021421G>A	uc010nin.1	+	3	547	c.500G>A	c.(499-501)cGt>cAt	p.R167H	MAGIX_uc004dmt.2_Intron|MAGIX_uc010nio.1_Intron|MAGIX_uc004dmu.2_Missense_Mutation_p.R108H|MAGIX_uc004dmw.2_Missense_Mutation_p.R100H	NM_024859	NP_079135	Q9H6Y5	MAGIX_HUMAN	Homo sapiens MAGI family member, X-linked (MAGIX), transcript variant 1, mRNA.	167	PDZ.																CGCTGTGGTCGTTTGGAGGTG	0.622													A	49021421	G	A	49021421	3	1	102	1	0	0	0	0	1	0	0	0	9268	1145	40	1	554	1	MAGIX	23	49021421	Missense_Mutation	SNP	G	TCGA-06-6693-01A-11D-1845-08	7434174	49021421	106249139	60	6852											
TNFRSF8	943	broad.mit.edu	37	chr1	12172043	12172043	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggacgaggccggccgCtgcacggcctgcgtgagctg	5	6	16	14	5	0	1	0	1	0	0	0	3	0	2	4	4	4	3	4	4	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:12172043C>T	uc001atq.3	+	6	987	c.765C>T	c.(763-765)cgC>cgT	p.R255R	TNFRSF8_uc010obc.2_Silent_p.R144R	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	255					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AGGCCGGCCGCTGCACGGCCT	0.587													T	12172043	C	T	12172043	2	4	103	1	0	0	0	0	0	0	0	1	16399	784	28	2		2	TNFRSF8	1	12172043	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		12172043	237078578	1	6853											
LOC440563	440563	broad.mit.edu	37	chr1	13183578	13183578	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacatctccgctgcggatcGtttcacacctgcgtttcctc	5	13	8	15	4	2	0	1	0	1	0	6	1	3	1	3	1	3	4	3	1	1	3	rs115194400	by1000genomes	TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:13183578G>A	uc010obg.2	-	1	538	c.295C>T	c.(295-297)Cga>Tga	p.R99*		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	99						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										GCTGCGGATCGTTTCACACCT	0.502													A	13183578	G	A	13183578	4	1	103	1	0	0	0	0	0	1	0	0	8946	1153	40	1	590	1	LOC440563	1	13183578	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1011535	13183578	236067043	2	6854											
EPHA10	284656	broad.mit.edu	37	chr1	38227194	38227194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggctgccaggctccccttCcgagtgcgccacgcacgttc	4	7	13	17	4	0	0	0	0	0	0	3	1	2	0	5	3	2	4	5	3	0	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:38227194C>T	uc009vvi.3	-	2	819	c.733G>A	c.(733-735)Gaa>Aaa	p.E245K	EPHA10_uc001cbw.4_Missense_Mutation_p.E245K	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	245						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGCTCCCCTTCCGAGTGCGCC	0.736													T	38227194	C	T	38227194	3	4	103	1	0	0	0	0	1	0	0	0	5207	864	30	2	2391	2	EPHA10	1	38227194	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	25043616	38227194	211023427	3	6855											
MACF1	23499	broad.mit.edu	37	chr1	39924911	39924911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgatgccttggatcGgctggaggaggtaatgccct	9	10	14	8	1	0	2	0	2	0	0	1	5	0	5	2	5	2	2	2	5	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:39924911G>A	uc021olw.1	+	55	16679	c.16679G>A	c.(16678-16680)cGg>cAg	p.R5560Q	MACF1_uc021ols.1_Missense_Mutation_p.R5055Q|MACF1_uc021olt.1_Missense_Mutation_p.R5058Q|MACF1_uc001cde.2_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	7016					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTTGGATCGGCTGGAGGAG	0.512													A	39924911	G	A	39924911	3	1	103	1	0	0	0	0	1	0	0	0	9215	1116	39	1	21670	1	MACF1	1	39924911	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1697717	39924911	209325710	4	6856											
JUN	3725	broad.mit.edu	37	chr1	59248392	59248392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggctgtgcagttcggccagGgcgcgcacgaagccctcggc	5	6	16	14	5	0	0	0	0	0	0	2	1	0	0	2	4	2	4	2	4	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:59248392G>A	uc001cze.3	-	0	1394	c.351C>T	c.(349-351)gcC>gcT	p.A117A	LOC100131060_uc001czf.2_5'Flank|LOC100131060_uc010oop.1_5'Flank	NM_002228	NP_002219	P05412	JUN_HUMAN	Homo sapiens jun proto-oncogene (JUN), mRNA.	117					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|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|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)	GTTCGGCCAGGGCGCGCACGA	0.697			A		sarcoma								A	59248392	G	A	59248392	2	1	103	1	0	0	0	0	0	0	0	1	8027	1219	43	2		2	JUN	1	59248392	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	19323481	59248392	190002229	5	6857											
CTSS	1520	broad.mit.edu	37	chr1	150730364	150730364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtggttcatgcccagatcGtatgagtgcattcccattga	9	12	11	9	1	1	3	1	2	0	1	3	3	2	3	2	2	2	3	2	2	1	4	rs139535421		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:150730364G>A	uc001evn.3	-	2	480	c.219C>T	c.(217-219)taC>taT	p.Y73Y	CTSS_uc010pcj.2_Silent_p.Y73Y	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	73					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGCCCAGATCGTATGAGTGCA	0.428													A	150730364	G	A	150730364	2	1	103	1	0	0	0	0	0	0	0	1	4074	1140	40	1		1	CTSS	1	150730364	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	91481972	150730364	98520257	6	6858											
FLG	2312	broad.mit.edu	37	chr1	152285059	152285059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgctgatggtgaccaGcctgtccatggcctgacact	6	10	12	13	0	1	3	0	3	1	0	2	3	2	3	4	3	2	2	4	3	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:152285059G>A	uc001ezu.1	-	2	2339	c.2303C>T	c.(2302-2304)gCt>gTt	p.A768V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	768	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACCAGCCTGTCCATG	0.562									Ichthyosis				A	152285059	G	A	152285059	3	1	103	1	0	0	0	0	1	0	0	0	5971	971	34	2	9886	2	FLG	1	152285059	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	1554695	152285059	96965562	7	6859											
NUF2	83540	broad.mit.edu	37	chr1	163315530	163315530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgcctgccttcatgtcaGttggaagtgcagttatatca	9	13	10	9	0	3	0	3	0	0	0	3	2	3	1	2	1	3	3	2	1	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:163315530G>T	uc001gcq.1	+	10	1170	c.870G>T	c.(868-870)caG>caT	p.Q290H	NUF2_uc001gcr.1_Missense_Mutation_p.Q290H	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	290	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					CTTCATGTCAGTTGGAAGTGC	0.358													T	163315530	G	T	163315530	3	4	103	1	0	0	0	0	1	0	0	0	10823	1020	36	4	908	4	NUF2	1	163315530	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	11030471	163315530	85935091	8	6860											
HMCN1	83872	broad.mit.edu	37	chr1	186092310	186092310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacgtgcatggcagccaatGtagcaggatcaagcagcaca	14	5	11	11	1	1	0	1	0	0	0	1	1	1	1	1	2	5	6	1	2	3	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:186092310G>A	uc001grq.1	+	80	12686	c.12457G>A	c.(12457-12459)Gta>Ata	p.V4153I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4153	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGCAGCCAATGTAGCAGGATC	0.498													A	186092310	G	A	186092310	3	1	103	1	0	0	0	0	1	0	0	0	7275	1377	48	2	12779	2	HMCN1	1	186092310	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	22776780	186092310	63158311	9	6861											
CHML	1122	broad.mit.edu	37	chr1	241797187	241797187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactacattattggttccagGagcctctggctgcttatcat	8	15	8	10	0	2	0	1	0	1	0	3	1	3	1	2	3	4	3	2	3	4	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr1:241797187G>A	uc001hzd.3	-	0	2046	c.1882C>T	c.(1882-1884)Cct>Tct	p.P628S	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	628					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity	p.P628S(2)		breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TTGGTTCCAGGAGCCTCTGGC	0.418													A	241797187	G	A	241797187	3	1	103	1	0	0	0	0	1	0	0	0	3381	1174	41	2	92	2	CHML	1	241797187	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	55704877	241797187	7453434	10	6862											
FBLN7	129804	broad.mit.edu	37	chr2	112944813	112944813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttccaacctgaagacGcccatcacgctcttccgcat	8	9	6	18	3	2	2	1	1	1	1	4	2	4	2	5	0	2	2	5	0	2	2	rs140504449		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:112944813G>A	uc002tho.1	+	7	1321	c.1050G>A	c.(1048-1050)acG>acA	p.T350T	FBLN7_uc010fki.1_Silent_p.T304T|FBLN7_uc010fkj.1_Silent_p.T216T	NM_153214	NP_694946	Q53RD9	FBLN7_HUMAN	Homo sapiens fibulin 7 (FBLN7), transcript variant 1, mRNA.	350					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCTGAAGACGCCCATCACGC	0.652													A	112944813	G	A	112944813	2	1	103	1	0	0	0	0	0	0	0	1	5750	1074	38	1		1	FBLN7	2	112944813	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		112944813	130254560	11	6863											
XIRP2	129446	broad.mit.edu	37	chr2	168103045	168103045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taataggtggtgatgtcaaaCgtaccattcataatttattg	13	15	8	5	1	2	1	2	1	0	0	2	1	2	1	1	2	2	1	1	2	6	8			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:168103045C>T	uc002udx.3	+	8	5232	c.5143C>T	c.(5143-5145)Cgt>Tgt	p.R1715C	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R1540C|XIRP2_uc010fpq.3_Missense_Mutation_p.R1493C|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1540					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TGATGTCAAACGTACCATTCA	0.338													T	168103045	C	T	168103045	3	4	103	1	0	0	0	0	1	0	0	0	17532	536	19	1	5173	1	XIRP2	2	168103045	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	55158232	168103045	75096328	12	6864											
ABCB11	8647	broad.mit.edu	37	chr2	169814525	169814525	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagggtgtgactgtcccgttCacagctgcacccacagaccc	9	7	10	15	1	1	2	1	1	0	1	2	2	2	2	3	1	2	3	3	1	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:169814525C>T	uc002ueo.1	-	18	2418	c.2292G>A	c.(2290-2292)gtG>gtA	p.V764V	ABCB11_uc010zda.1_Silent_p.V206V|ABCB11_uc010zdb.1_Silent_p.V240V	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	764	ABC transmembrane type-1 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CTGTCCCGTTCACAGCTGCAC	0.473													T	169814525	C	T	169814525	2	4	103	1	0	0	0	0	0	0	0	1	42	813	29	2		2	ABCB11	2	169814525	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	1711480	169814525	73384848	13	6865											
TRAK2	66008	broad.mit.edu	37	chr2	202272228	202272229	+	Frame_Shift_Del	DEL	AG	AG	-																															gtcttgattttcatatagaaAgagagtgtctacttttagcc																										TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:202272228_202272229delAG	uc002uyb.4	-	2	629_630	c.183_184delCT	c.(181-186)ctctttfs	p.L61fs	TRAK2_uc002uyc.2_Frame_Shift_Del_p.L61fs	NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	61						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						TCATATAGAAAGAGAGTGTCTA	0.46													-	202272229	AG	-	202272228	7	5	103	1	0	1	0	1	0	0	0	0	16551	72	3	0	2616	0	TRAK2	2	202272228	Frame_Shift_Del	DEL	AG	TCGA-06-6694-01A-12D-1845-08	32457703	202272228	40927145	14	6866											
DES	1674	broad.mit.edu	37	chr2	220286194	220286194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagatggcccgccatctgCgcgagtaccaggacctgctc	8	7	12	14	3	1	1	0	1	1	1	2	4	1	2	4	2	3	2	4	2	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr2:220286194C>T	uc002vll.3	+	5	1242	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C		NM_001927	NP_001918	P17661	DESM_HUMAN	Homo sapiens desmin (DES), mRNA.	386	Coil 2B.|Rod.				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		CCGCCATCTGCGCGAGTACCA	0.622													T	220286194	C	T	220286194	3	4	103	1	0	0	0	0	1	0	0	0	4488	768	27	1	1178	1	DES	2	220286194	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	18013966	220286194	22913179	15	6867											
SETD5	55209	broad.mit.edu	37	chr3	9489393	9489393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attgctgcagaaaaactagtCcccaagccacctccagcaaa	15	6	6	14	0	0	1	0	0	0	1	2	1	2	1	5	0	5	3	5	0	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:9489393C>T	uc003brt.3	+	14	2241	c.1806C>T	c.(1804-1806)gtC>gtT	p.V602V	SETD5_uc003brs.1_Silent_p.V583V|SETD5_uc003bru.3_Silent_p.V504V|SETD5_uc003brv.3_Silent_p.V491V|SETD5_uc010hck.3_Silent_p.V84V|SETD5_uc003brx.3_Silent_p.V271V	NM_001080517	NP_001073986	Q9C0A6	SETD5_HUMAN	Homo sapiens SET domain containing 5 (SETD5), mRNA.	602										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AAAAACTAGTCCCCAAGCCAC	0.468													T	9489393	C	T	9489393	2	4	103	1	0	0	0	0	0	0	0	1	14227	842	30	2		2	SETD5	3	9489393	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		9489393	188533037	16	6868											
FAM19A4	151647	broad.mit.edu	37	chr3	68929927	68929927	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcggacatcagcttacaGcacaccattaacacgtaggc	13	6	10	12	2	1	0	1	0	0	0	1	2	1	1	1	3	4	3	1	3	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:68929927G>T	uc021xag.1	-	2	577	c.84C>A	c.(82-84)tgC>tgA	p.C28*	FAM19A4_uc021xah.1_Nonsense_Mutation_p.C28*|5S_rRNA_uc021xai.1_5'Flank	NM_182522	NP_872328	Q96LR4	F19A4_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A4 (FAM19A4), transcript variant 1, mRNA.	28						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		TCAGCTTACAGCACACCATTA	0.512													T	68929927	G	T	68929927	4	4	103	1	0	0	0	0	0	1	0	0	5581	963	34	4	354	4	FAM19A4	3	68929927	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	59440534	68929927	129092503	17	6869											
CEP97	79598	broad.mit.edu	37	chr3	101476715	101476715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcacctacagttgagctgaGgctgcagggcattaacttgg	10	10	12	9	0	1	2	1	2	0	0	1	2	1	2	1	3	4	5	1	3	2	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr3:101476715G>T	uc003dvk.1	+	8	1292	c.1265G>T	c.(1264-1266)aGg>aTg	p.R422M	CEP97_uc010hpm.1_Missense_Mutation_p.R388M|CEP97_uc011bhf.1_Missense_Mutation_p.R363M|CEP97_uc003dvl.1_Missense_Mutation_p.R118M|CEP97_uc003dvm.1_Missense_Mutation_p.R260M	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	422	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTTGAGCTGAGGCTGCAGGGC	0.473													T	101476715	G	T	101476715	3	4	103	1	0	0	0	0	1	0	0	0	3293	1000	35	4	1299	4	CEP97	3	101476715	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	32546788	101476715	96545715	18	6870											
SPON2	10417	broad.mit.edu	37	chr4	1165082	1165082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgcacctccagctccGccgacgtctgcccggtgccg	3	7	12	19	6	1	0	0	0	1	0	3	1	3	0	6	1	5	3	6	1	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:1165082G>T	uc003gco.4	-	2	742	c.413C>A	c.(412-414)gCg>gAg	p.A138E	SPON2_uc021xkj.1_Missense_Mutation_p.A138E|SPON2_uc010ibr.3_Missense_Mutation_p.A138E|SPON2_uc003gcm.1_Missense_Mutation_p.A56E	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	138	Spondin.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding	p.A138A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CTCCAGCTCCGCCGACGTCTG	0.786													T	1165082	G	T	1165082	3	4	103	1	0	0	0	0	1	0	0	0	15179	1087	38	4	598	4	SPON2	4	1165082	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		1165082	189989194	19	6871											
HELQ	113510	broad.mit.edu	37	chr4	84368060	84368060	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttcaccaagctatgtccTttttcaatagtggcaatata	12	14	7	8	0	2	0	2	0	0	0	3	1	3	0	2	1	1	3	2	1	7	7			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:84368060T>C	uc003hom.3	-	3	1499	c.1320A>G	c.(1318-1320)aaA>aaG	p.K440K	HELQ_uc010ikb.3_Intron|HELQ_uc003hol.4_Non-coding_Transcript|HELQ_uc010ikc.3_Non-coding_Transcript	NM_133636	NP_598375	Q8TDG4	HELQ_HUMAN	Homo sapiens helicase, POLQ-like (HELQ), mRNA.	440	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						AGCTATGTCCTTTTTCAATAG	0.373								Other identified genes with known or suspected DNA repair function					C	84368060	T	C	84368060	2	2	103	1	0	0	0	0	0	0	0	1	7102	1606	56	3		3	HELQ	4	84368060	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	83202978	84368060	106786216	20	6872											
BMPR1B	658	broad.mit.edu	37	chr4	96075770	96075770	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaggctgacagccctGcgggttaagaaaacacttgc	12	7	11	11	1	1	2	1	1	0	1	1	2	1	2	1	2	4	3	1	2	4	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:96075770G>C	uc003htm.4	+	12	1729	c.1455G>C	c.(1453-1455)ctG>ctC	p.L485L	BMPR1B_uc010ilb.3_Silent_p.L485L|BMPR1B_uc003htn.4_Silent_p.L485L	NM_001203	NP_001194	O00238	BMR1B_HUMAN	Homo sapiens bone morphogenetic protein receptor, type IB (BMPR1B), mRNA.	485	Protein kinase.				BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity	p.A484T(1)		breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		TGACAGCCCTGCGGGTTAAGA	0.448													C	96075770	G	C	96075770	2	2	103	1	0	0	0	0	0	0	0	1	1476	1306	46	4		4	BMPR1B	4	96075770	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	11707710	96075770	95078506	21	6873											
DKK2	27123	broad.mit.edu	37	chr4	107845338	107845338	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaatgcagtctgatgatcGtaggcaggggtctccttcat	8	13	11	9	1	4	2	2	2	2	0	6	2	4	2	1	3	1	3	1	3	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr4:107845338G>A	uc003hyi.3	-	3	1258	c.553C>T	c.(553-555)Cga>Tga	p.R185*	DKK2_uc003hyj.1_3'UTR	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	185	DKK-type Cys-2.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		TCTGATGATCGTAGGCAGGGG	0.448													A	107845338	G	A	107845338	4	1	103	1	0	0	0	0	0	1	0	0	4584	1153	40	1	230	1	DKK2	4	107845338	Nonsense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	11769568	107845338	83308938	22	6874											
ZFR	51663	broad.mit.edu	37	chr5	32390482	32390482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatctggcattcggcggcGatcatcccaatgatgttgtt	7	13	10	11	3	2	1	1	1	1	0	5	2	4	1	2	3	0	3	2	3	1	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:32390482G>A	uc003jhr.1	-	11	2121	c.2041C>T	c.(2041-2043)Cgc>Tgc	p.R681C	ZFR_uc011cny.1_5'Flank	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	681					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ATTCGGCGGCGATCATCCCAA	0.507													A	32390482	G	A	32390482	3	1	103	1	0	0	0	0	1	0	0	0	17760	1058	37	1	1219	1	ZFR	5	32390482	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		32390482	148524778	23	6875											
CARTPT	9607	broad.mit.edu	37	chr5	71015195	71015195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgctacctctgttgggtacCcgtgcccaggaggacgccga	7	8	13	13	3	1	0	0	0	1	0	1	3	1	2	4	3	4	3	4	3	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:71015195C>T	uc003kbv.2	+	0	206	c.75C>T	c.(73-75)acC>acT	p.T25T		NM_004291	NP_004282	Q16568	CART_HUMAN	Homo sapiens CART prepropeptide (CARTPT), mRNA.	25					activation of MAPKK activity|adult feeding behavior|cellular glucose homeostasis|cellular response to starvation|circadian regulation of gene expression|negative regulation of appetite|negative regulation of bone resorption|negative regulation of osteoclast differentiation|neuropeptide signaling pathway|positive regulation of blood pressure|positive regulation of epinephrine secretion|positive regulation of transmission of nerve impulse|synaptic transmission	extracellular space				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(167;0.00153)|Ovarian(174;0.0175)|Prostate(74;0.11)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;8.4e-56)	Amphetamine(DB00182)	TGTTGGGTACCCGTGCCCAGG	0.657													T	71015195	C	T	71015195	2	4	103	1	0	0	0	0	0	0	0	1	2685	610	22	2		2	CARTPT	5	71015195	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	38624713	71015195	109900065	24	6876											
GCNT4	51301	broad.mit.edu	37	chr5	74325583	74325583	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctccaagtcaatgatgtCccttcttcttatttccagac	9	15	4	13	0	3	2	1	1	2	1	7	2	7	2	4	0	0	0	4	0	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:74325583C>A	uc003kdn.3	-	0	1142	c.280G>T	c.(280-282)Gac>Tac	p.D94Y		NM_016591	NP_057675	Q9P109	GCNT4_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 4, core 2 (GCNT4), mRNA.	94					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TCAATGATGTCCCTTCTTCTT	0.403													A	74325583	C	A	74325583	3	1	103	1	0	0	0	0	1	0	0	0	6357	855	30	4	1085	4	GCNT4	5	74325583	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	3310388	74325583	106589677	25	6877											
SLC36A2	153201	broad.mit.edu	37	chr5	150704898	150704898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgtcatctccaaacCgcaggtagcccagagccgcc	9	7	9	16	2	2	2	1	1	1	1	3	2	2	2	6	1	3	2	6	1	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:150704898C>T	uc003lty.3	-	7	1089	c.959G>A	c.(958-960)cGg>cAg	p.R320Q	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_Missense_Mutation_p.R122Q|SLC36A2_uc010jhv.2_Missense_Mutation_p.R320Q	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	320					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCTCCAAACCGCAGGTAGCC	0.532													T	150704898	C	T	150704898	3	4	103	1	0	0	0	0	1	0	0	0	14688	652	23	1	504	1	SLC36A2	5	150704898	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	76379315	150704898	30210362	26	6878											
IL12B	3593	broad.mit.edu	37	chr5	158743808	158743808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggctgaggtcttgtccGtgaagactctatctttctgc	5	14	11	11	2	4	3	0	2	4	1	5	3	5	3	2	2	1	1	2	2	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr5:158743808G>A	uc003lxr.1	-	6	914	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RNU4ATAC_uc021ygw.1_5'Flank	NM_002187	NP_002178	P29460	IL12B_HUMAN	Homo sapiens interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40) (IL12B), mRNA.	291	Fibronectin type-III.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCTTGTCCGTGAAGACTCT	0.512											OREG0016989	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	158743808	G	A	158743808	3	1	103	1	0	0	0	0	1	0	0	0	7683	1145	40	1	118	1	IL12B	5	158743808	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	8038910	158743808	22171452	27	6879											
FOXF2	2295	broad.mit.edu	37	chr6	1391312	1391312	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcctcctactcgctggAgcagagctacttgcaccaga	9	9	9	14	1	0	2	0	0	0	2	3	3	2	3	3	1	5	4	3	1	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:1391312A>G	uc003mtm.3	+	0	1244	c.1130A>G	c.(1129-1131)gAg>gGg	p.E377G		NM_001452	NP_001443	Q12947	FOXF2_HUMAN	Homo sapiens forkhead box F2 (FOXF2), mRNA.	377					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		TACTCGCTGGAGCAGAGCTAC	0.682													G	1391312	A	G	1391312	3	3	103	1	0	0	0	0	1	0	0	0	6057	304	11	3	1132	3	FOXF2	6	1391312	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08		1391312	169723755	28	6880											
TFAP2A	7020	broad.mit.edu	37	chr6	10410393	10410393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtaggggtcgttgacgtggGagtaaggatcttgcgactgg	7	11	18	5	3	1	1	0	1	1	0	2	4	1	3	0	5	1	3	0	5	2	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:10410393G>A	uc003myr.3	-	1	473	c.221C>T	c.(220-222)tCc>tTc	p.S74F	TFAP2A_uc003myq.3_Missense_Mutation_p.S68F|TFAP2A_uc003mys.3_Intron|TFAP2A_uc011dih.2_Missense_Mutation_p.S74F|TFAP2A_uc003myt.3_Missense_Mutation_p.S70F|TFAP2A_uc003myu.1_Missense_Mutation_p.S74F|TFAP2A_uc011dii.1_Missense_Mutation_p.S70F|LOC100130275_uc003myw.3_5'Flank	NM_003220	NP_003211	P05549	AP2A_HUMAN	Homo sapiens transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) (TFAP2A), transcript variant 1, mRNA.	74	Gln/Pro-rich (transactivation domain).				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				GTTGACGTGGGAGTAAGGATC	0.682													A	10410393	G	A	10410393	3	1	103	1	0	0	0	0	1	0	0	0	15887	1174	41	2	1116	2	TFAP2A	6	10410393	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	9019081	10410393	160704674	29	6881											
BAI3	577	broad.mit.edu	37	chr6	70042889	70042889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctagataaaaagctcaaAcacagagccgggtaagctgc	16	6	9	10	1	1	2	1	0	0	2	2	2	2	2	2	1	5	3	2	1	6	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:70042889A>G	uc010kak.3	+	22	3453	c.3177A>G	c.(3175-3177)aaA>aaG	p.K1059K	BAI3_uc003pev.4_Silent_p.K1059K|BAI3_uc011dxx.2_Silent_p.K265K	NM_001704	NP_001695	O60242	BAI3_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 3 (BAI3), mRNA.	1059					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				AAAAGCTCAAACACAGAGCCG	0.398													G	70042889	A	G	70042889	2	3	103	1	0	0	0	0	0	0	0	1	1305	40	2	3		3	BAI3	6	70042889	Silent	SNP	A	TCGA-06-6694-01A-12D-1845-08	59632496	70042889	101072178	30	6882											
CDK19	23097	broad.mit.edu	37	chr6	110959910	110959910	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaggatatttgctggtttCtagaaataaaaatagagcat	16	13	8	4	0	1	2	0	0	1	2	1	3	1	3	0	2	2	3	0	2	8	7			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:110959910C>T	uc003puh.1	-	5	530	c.457_splice	c.e5-1	p.K153_splice	CDK19_uc003pui.1_Splice_Site_p.K93_splice|CDK19_uc011eax.1_Splice_Site_p.K29_splice	NM_015076	NP_055891	Q9BWU1	CDK19_HUMAN	Homo sapiens cyclin-dependent kinase 19 (CDK19), mRNA.	153	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TTGCTGGTTTCTAGAAATAAA	0.289													T	110959910	C	T	110959910	5	4	103	1	0	0	0	0	0	0	1	0	3165	927	32	2	1088	2	CDK19	6	110959910	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	40917021	110959910	60155157	31	6883											
C6orf170	221322	broad.mit.edu	37	chr6	121560260	121560260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atccactggagtagttctggGatgggttaccctaacatcat	10	12	10	9	0	2	0	1	0	1	0	3	2	3	2	2	3	2	3	2	3	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:121560260G>A	uc003pyo.1	-	19	2388	c.2320C>T	c.(2320-2322)Ccc>Tcc	p.P774S	C6orf170_uc003pyq.1_Non-coding_Transcript|C6orf170_uc010kej.1_5'Flank|C6orf170_uc003pyp.1_Missense_Mutation_p.P293S	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	774					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		GTAGTTCTGGGATGGGTTACC	0.333													A	121560260	G	A	121560260	3	1	103	1	0	0	0	0	1	0	0	0	2366	1174	41	2	1505	2	C6orf170	6	121560260	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	10600350	121560260	49554807	32	6884											
LPA	4018	broad.mit.edu	37	chr6	160998167	160998167	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttttaatcaaatacataCgcatttgggtagttttctgg	10	17	9	5	1	2	0	1	0	1	0	2	0	2	0	0	3	2	4	0	3	5	8			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr6:160998167C>T	uc003qtl.3	-	29	4751	c.4631_splice	c.e29+1	p.A1544_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4052	Kringle 14.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAATACATACGCATTTGGGT	0.433													T	160998167	C	T	160998167	5	4	103	1	0	0	0	0	0	0	1	0	8973	550	19	1	1538	1	LPA	6	160998167	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	39437907	160998167	10116900	33	6885											
SLC29A4	222962	broad.mit.edu	37	chr7	5331368	5331368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctttttatcagcatctgcGacgtgtggctgcagctcttc	5	15	9	12	2	3	0	1	0	2	0	5	1	4	0	1	1	4	4	1	1	1	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:5331368G>A	uc003sod.3	+	4	621	c.460G>A	c.(460-462)Gac>Aac	p.D154N	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Missense_Mutation_p.D154N|SLC29A4_uc003soe.3_Silent_p.A141A	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	154					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		CAGCATCTGCGACGTGTGGCT	0.647													A	5331368	G	A	5331368	3	1	103	1	0	0	0	0	1	0	0	0	14631	1058	37	1	474	1	SLC29A4	7	5331368	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		5331368	153807295	34	6886											
GRM3	2913	broad.mit.edu	37	chr7	86468659	86468659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacacccttggtcaaagcatCgggccgagaactctgctaca	11	7	9	14	2	2	1	1	0	1	1	3	2	2	1	2	2	4	2	2	2	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:86468659C>T	uc003uid.3	+	3	2928	c.1829C>T	c.(1828-1830)tCg>tTg	p.S610L	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Missense_Mutation_p.S482L|GRM3_uc010leh.3_Missense_Mutation_p.S202L	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	610					synaptic transmission	integral to plasma membrane		p.S610L(4)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAAAGCATCGGGCCGAGAA	0.468													T	86468659	C	T	86468659	3	4	103	1	0	0	0	0	1	0	0	0	6853	893	31	1	1839	1	GRM3	7	86468659	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	81137291	86468659	72670004	35	6887											
TECPR1	25851	broad.mit.edu	37	chr7	97858368	97858368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caccttggaagcagccgcctCcatagccgcctgtgtatacc	8	8	9	16	2	0	0	0	0	0	0	1	1	1	1	7	1	4	2	7	1	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:97858368C>T	uc003upg.3	-	15	2598	c.2393G>A	c.(2392-2394)gGa>gAa	p.G798E	TECPR1_uc003uph.1_Missense_Mutation_p.G728E	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	798						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GCAGCCGCCTCCATAGCCGCC	0.677													T	97858368	C	T	97858368	3	4	103	1	0	0	0	0	1	0	0	0	15843	855	30	2	1148	2	TECPR1	7	97858368	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	11389709	97858368	61280295	36	6888											
CYP3A4	1576	broad.mit.edu	37	chr7	99359709	99359709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagtactttgggtcaCggtgaagagcatagcttgga	9	11	13	8	1	1	2	1	1	0	1	2	3	2	3	1	3	3	3	1	3	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:99359709C>T	uc003urv.2	-	10	1315	c.1208G>A	c.(1207-1209)cGt>cAt	p.R403H	CYP3A4_uc003urw.2_Missense_Mutation_p.R402H|CYP3A4_uc011kiz.2_Missense_Mutation_p.R362H	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	403					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	CTTTGGGTCACGGTGAAGAGC	0.507													T	99359709	C	T	99359709	3	4	103	1	0	0	0	0	1	0	0	0	4211	536	19	1	315	1	CYP3A4	7	99359709	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1501341	99359709	59778954	37	6889											
ACHE	43	broad.mit.edu	37	chr7	100490909	100490909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcagcacgtgccattcGtggttcaccaggacctgcgc	7	8	13	13	3	1	1	1	1	0	0	2	2	1	2	3	3	3	3	3	3	0	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100490909G>A	uc003uxd.3	-	0	1101	c.945C>T	c.(943-945)caC>caT	p.H315H	ACHE_uc003uxe.3_Silent_p.H315H|ACHE_uc003uxf.3_Silent_p.H315H|ACHE_uc003uxg.3_Silent_p.H315H|ACHE_uc003uxh.3_Silent_p.H315H|ACHE_uc003uxi.3_Silent_p.H315H|ACHE_uc003uxj.1_Silent_p.H434H	NM_000665	NP_000656	P22303	ACES_HUMAN	Homo sapiens acetylcholinesterase (ACHE), transcript variant E4-E6, mRNA.	315					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CGTGCCATTCGTGGTTCACCA	0.607													A	100490909	G	A	100490909	2	1	103	1	0	0	0	0	0	0	0	1	141	1136	40	1		1	ACHE	7	100490909	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	1131200	100490909	58647754	38	6890											
MUC17	140453	broad.mit.edu	37	chr7	100692247	100692247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttcaaacagacattcacGgaacaggtaagtctgggaga	15	7	12	7	1	3	2	2	0	1	2	3	5	3	3	0	3	2	2	0	3	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:100692247G>A	uc003uxp.1	+	4	12710	c.12657G>A	c.(12655-12657)acG>acA	p.T4219T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4219	SEA.					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)					AGACATTCACGGAACAGGTAA	0.507													A	100692247	G	A	100692247	2	1	103	1	0	0	0	0	0	0	0	1	10050	1103	39	1		1	MUC17	7	100692247	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	201338	100692247	58446416	39	6891											
EPHB6	2051	broad.mit.edu	37	chr7	142561409	142561409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtattgctggacaccaccGgagagacatctgagattggc	11	8	13	9	1	1	2	0	1	1	2	1	6	1	4	2	4	1	2	2	4	1	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:142561409G>A	uc011kst.2	+	5	908	c.121G>A	c.(121-123)Gga>Aga	p.G41R	EPHB6_uc011ksu.2_Missense_Mutation_p.G41R|EPHB6_uc003wbs.3_Intron|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_Intron	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	41						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGACACCACCGGAGAGACATC	0.597													A	142561409	G	A	142561409	3	1	103	1	0	0	0	0	1	0	0	0	5219	1117	39	1	127	1	EPHB6	7	142561409	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	41869162	142561409	16577254	40	6892											
OR2A12	346525	broad.mit.edu	37	chr7	143792982	143792982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtcatgtacatggcccCcaagtcaagccattctcaag	11	10	7	13	0	3	0	3	0	1	0	4	0	3	0	3	1	2	1	3	1	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr7:143792982C>A	uc011kty.2	+	0	782	c.782C>A	c.(781-783)cCc>cAc	p.P261H		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TACATGGCCCCCAAGTCAAGC	0.547													A	143792982	C	A	143792982	3	1	103	1	0	0	0	0	1	0	0	0	11051	623	22	4	784	4	OR2A12	7	143792982	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1231573	143792982	15345681	41	6893											
DLC1	10395	broad.mit.edu	37	chr8	12952344	12952344	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatctcgaaaatactgcttCagcatgtctgccacgtcata	12	11	7	11	2	4	1	2	0	2	1	5	2	4	1	1	0	4	2	1	0	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:12952344C>T	uc003wwm.2	-	11	3894	c.3450G>A	c.(3448-3450)ctG>ctA	p.L1150L	DLC1_uc003wwk.1_Silent_p.L713L|DLC1_uc003wwl.1_Silent_p.L747L|DLC1_uc011kxx.1_Silent_p.L639L	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1150	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AATACTGCTTCAGCATGTCTG	0.468													T	12952344	C	T	12952344	2	4	103	1	0	0	0	0	0	0	0	1	4589	813	29	2		2	DLC1	8	12952344	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08		12952344	133411678	42	6894											
TUSC3	7991	broad.mit.edu	37	chr8	15531274	15531274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtatagtctttgctatgActtctggccagatgtggaac	9	14	11	7	0	2	2	0	1	2	1	2	3	2	3	1	2	2	2	1	2	4	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:15531274A>G	uc003wwt.3	+	5	1071	c.727A>G	c.(727-729)Act>Gct	p.T243A	TUSC3_uc003wwu.3_Missense_Mutation_p.T243A	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	243					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		CTTTGCTATGACTTCTGGCCA	0.383													G	15531274	A	G	15531274	3	3	103	1	0	0	0	0	1	0	0	0	16880	275	10	3	749	3	TUSC3	8	15531274	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	2578930	15531274	130832748	43	6895											
SFTPC	6440	broad.mit.edu	37	chr8	22020640	22020640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcccagcaacgcctggcCctgagtgagcacctggttac	9	6	12	14	1	0	2	0	2	0	0	0	3	0	2	4	2	5	3	4	2	3	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:22020640C>T	uc003xaw.4	+	5	1099	c.396C>T	c.(394-396)gcC>gcT	p.A132A	SFTPC_uc003xax.4_Silent_p.A83A|SFTPC_uc003xay.4_Silent_p.A83A|SFTPC_uc003xaz.3_Silent_p.A83A|SFTPC_uc011kza.1_Silent_p.A83A|SFTPC_uc022asz.1_5'Flank|BMP1_uc011kzb.2_5'Flank|BMP1_uc003xbf.3_5'Flank|BMP1_uc003xbb.3_5'Flank|BMP1_uc003xbc.3_5'Flank|BMP1_uc003xbd.3_5'Flank|BMP1_uc003xbe.3_5'Flank|BMP1_uc011kzc.2_5'Flank|BMP1_uc003xbg.3_5'Flank|BMP1_uc003xbh.3_5'Flank|BMP1_uc003xbi.3_5'Flank	NM_001172357	NP_001165828	P11686	PSPC_HUMAN	Homo sapiens surfactant protein C (SFTPC), transcript variant 3, mRNA.	83	BRICHOS.				respiratory gaseous exchange	extracellular space				autonomic_ganglia(1)|large_intestine(1)|lung(1)	3				Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		AACGCCTGGCCCTGAGTGAGC	0.617													T	22020640	C	T	22020640	2	4	103	1	0	0	0	0	0	0	0	1	14285	610	22	2		2	SFTPC	8	22020640	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	6489366	22020640	124343382	44	6896											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24256489	24256489	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagcaccacgtttgacAacttcctgagatggcacagt	11	8	10	12	2	0	2	0	2	0	1	1	3	1	2	2	1	2	4	2	1	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr8:24256489A>G	uc003xdz.2	+	8	1085	c.865A>G	c.(865-867)Aac>Gac	p.N289D	ADAMDEC1_uc010lub.2_Missense_Mutation_p.N210D|ADAMDEC1_uc011lab.1_Missense_Mutation_p.N210D	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	289	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CACGTTTGACAACTTCCTGAG	0.488													G	24256489	A	G	24256489	3	3	103	1	0	0	0	0	1	0	0	0	254	130	5	3	899	3	ADAMDEC1	8	24256489	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	2235849	24256489	122107533	45	6897											
JAK2	3717	broad.mit.edu	37	chr9	5080558	5080558	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattttatgaagataggcAtcagcttcctgcaccaaagt	14	11	7	9	0	1	2	1	1	0	1	2	2	2	2	2	1	2	3	2	1	5	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:5080558A>T	uc010mhm.3	+	16	2422	c.2309A>T	c.(2308-2310)cAt>cTt	p.H770L	JAK2_uc003ziw.3_Missense_Mutation_p.H770L	NM_004972	NP_004963	O60674	JAK2_HUMAN	Homo sapiens Janus kinase 2 (JAK2), mRNA.	770	Protein kinase 1.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAGATAGGCATCAGCTTCCT	0.358		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				T	5080558	A	T	5080558	3	4	103	1	0	0	0	0	1	0	0	0	7996	217	8	5	2371	5	JAK2	9	5080558	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08		5080558	136132873	46	6898											
FAM120A	23196	broad.mit.edu	37	chr9	96289441	96289441	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattttatgtttagccatAtcagcgggaacaagattggc	11	14	9	7	1	2	1	2	0	0	1	2	2	2	2	1	2	3	1	1	2	5	7			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:96289441A>C	uc004atw.3	+	7	1448	c.1423A>C	c.(1423-1425)Atc>Ctc	p.I475L	FAM120A_uc004atv.3_Missense_Mutation_p.I475L|FAM120A_uc004atx.3_Missense_Mutation_p.I257L|FAM120A_uc004aty.3_Missense_Mutation_p.I256L|FAM120A_uc004atz.3_Missense_Mutation_p.I124L|FAM120A_uc010mrf.1_Non-coding_Transcript	NM_014612	NP_055427	Q9NZB2	F120A_HUMAN	Homo sapiens family with sequence similarity 120A (FAM120A), mRNA.	475						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTTTAGCCATATCAGCGGGAA	0.463													C	96289441	A	C	96289441	3	2	103	1	0	0	0	0	1	0	0	0	5460	449	16	5	1453	5	FAM120A	9	96289441	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	91208883	96289441	44923990	47	6899											
ZNF169	169841	broad.mit.edu	37	chr9	97063382	97063382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcagaggaggagctttaCgtagacagggtgtgtggaca	11	8	15	7	1	1	2	1	0	0	2	1	5	1	5	0	4	2	2	0	4	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr9:97063382C>T	uc022bki.1	+	3	1600	c.1545C>T	c.(1543-1545)taC>taT	p.Y515Y	ZNF169_uc004aum.1_Silent_p.Y514Y	NM_194320	NP_919301	Q14929	ZN169_HUMAN	Homo sapiens zinc finger protein 169 (ZNF169), mRNA.	514						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				AGGAGCTTTACGTAGACAGGG	0.537													T	97063382	C	T	97063382	2	4	103	1	0	0	0	0	0	0	0	1	17843	547	19	1		1	ZNF169	9	97063382	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	773941	97063382	44150049	48	6900											
MYOF	26509	broad.mit.edu	37	chr10	95134679	95134679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtatcgagaactgtgacGttggcttttccttctgtgag	7	15	12	7	2	1	4	0	3	1	1	3	5	2	4	1	1	1	3	1	1	2	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:95134679G>A	uc001kin.3	-	22	2265	c.2142C>T	c.(2140-2142)aaC>aaT	p.N714N	MYOF_uc001kio.3_Silent_p.N701N|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	714					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAACTGTGACGTTGGCTTTTC	0.448													A	95134679	G	A	95134679	2	1	103	1	0	0	0	0	0	0	0	1	10165	1136	40	1		1	MYOF	10	95134679	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		95134679	40400068	49	6901											
LRRC27	80313	broad.mit.edu	37	chr10	134165159	134165159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccgacctcttgtcaccGtaccaaatggcgatccgagc	9	9	8	15	4	2	0	1	0	1	0	3	3	3	0	5	1	3	1	5	1	3	3	rs147065829		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr10:134165159G>A	uc010quw.1	+	6	1170	c.975G>A	c.(973-975)ccG>ccA	p.P325P	LRRC27_uc001llf.2_Missense_Mutation_p.R357H|LRRC27_uc010quv.1_Silent_p.P325P|LRRC27_uc001llg.2_Non-coding_Transcript|LRRC27_uc001lli.2_Silent_p.P325P|LRRC27_uc001llj.2_Silent_p.P263P|LRRC27_uc001llk.4_Silent_p.P198P	NM_030626	NP_085129	Q9C0I9	LRC27_HUMAN	Homo sapiens leucine rich repeat containing 27 (LRRC27), transcript variant 1, mRNA.	325								p.P325Q(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		TCTTGTCACCGTACCAAATGG	0.527													A	134165159	G	A	134165159	2	1	103	1	0	0	0	0	0	0	0	1	9051	1145	40	1		1	LRRC27	10	134165159	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	39030480	134165159	1369588	50	6902											
FAM160A2	84067	broad.mit.edu	37	chr11	6239211	6239211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcaggggtaggccgtcgGccagggctggaggcggggga	5	5	22	9	3	1	0	0	0	1	0	2	2	1	2	2	9	1	3	2	9	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:6239211G>A	uc001mck.4	-	8	2006	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	FAM160A2_uc001mcl.4_Silent_p.G535G|FAM160A2_uc001mcm.2_Silent_p.G535G	NM_032127	NP_115503	Q8N612	F16A2_HUMAN	Homo sapiens family with sequence similarity 160, member A2 (FAM160A2), transcript variant 1, mRNA.	535					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TAGGCCGTCGGCCAGGGCTGG	0.652													A	6239211	G	A	6239211	2	1	103	1	0	0	0	0	0	0	0	1	5514	1190	42	2		2	FAM160A2	11	6239211	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		6239211	128767305	51	6903											
SLC35C1	55343	broad.mit.edu	37	chr11	45827648	45827648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctctggccgcctgctgccCtggtgccgtggacttcccca	2	9	12	18	3	1	0	0	0	1	0	2	1	2	1	6	3	3	2	6	3	0	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:45827648C>T	uc001nbp.3	+	0	1008	c.296C>T	c.(295-297)cCt>cTt	p.P99L	SLC35C1_uc001nbo.3_Missense_Mutation_p.P86L|SLC35C1_uc010rgm.2_Missense_Mutation_p.P86L	NM_018389	NP_001138738	Q96A29	FUCT1_HUMAN	Homo sapiens solute carrier family 35, member C1 (SLC35C1), transcript variant 1, mRNA.	99						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCCTGCTGCCCTGGTGCCGTG	0.652													T	45827648	C	T	45827648	3	4	103	1	0	0	0	0	1	0	0	0	14673	681	24	2	298	2	SLC35C1	11	45827648	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	39588437	45827648	89178868	52	6904											
OR4C11	219429	broad.mit.edu	37	chr11	55371296	55371296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaagtgtccatgcaggcaAgtttcaacaagggctgcaaa	13	9	11	8	0	1	0	1	0	0	0	2	0	2	0	1	2	3	6	1	2	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55371296A>T	uc010rii.2	-	0	579	c.554T>A	c.(553-555)cTt>cAt	p.L185H		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L185L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						CATGCAGGCAAGTTTCAACAA	0.398													T	55371296	A	T	55371296	3	4	103	1	0	0	0	0	1	0	0	0	11121	72	3	5	380	5	OR4C11	11	55371296	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	9543648	55371296	79635220	53	6905											
OR4P4	81300	broad.mit.edu	37	chr11	55405976	55405976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcataatgatttctatcaCgtgcacccagctcattcacc	11	12	4	14	1	5	1	4	1	1	0	5	1	5	1	2	0	2	2	2	0	2	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:55405976C>T	uc010rij.2	+	0	143	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T48A(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						ATTTCTATCACGTGCACCCAG	0.388													T	55405976	C	T	55405976	3	4	103	1	0	0	0	0	1	0	0	0	11156	536	19	1	145	1	OR4P4	11	55405976	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	34680	55405976	79600540	54	6906											
OR5M1	390168	broad.mit.edu	37	chr11	56380780	56380780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcaaatgtctacaaaggAgaggtggccaaggaagaaat	18	6	12	5	0	1	2	0	0	1	2	1	4	1	3	1	4	2	1	1	4	7	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56380780A>G	uc001nja.1	-	0	199	c.199T>C	c.(199-201)Tcc>Ccc	p.S67P	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTACAAAGGAGAGGTGGCCA	0.463													G	56380780	A	G	56380780	3	3	103	1	0	0	0	0	1	0	0	0	11248	304	11	3	752	3	OR5M1	11	56380780	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	974804	56380780	78625736	55	6907											
OR5AR1	219493	broad.mit.edu	37	chr11	56431356	56431356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtattttttcctctgcaaCctctcctttgttgacctggg	5	18	7	11	0	2	1	0	1	2	0	4	1	3	1	4	1	2	3	4	1	2	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:56431356C>A	uc010rjm.2	+	0	195	c.195C>A	c.(193-195)aaC>aaA	p.N65K	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TCCTCTGCAACCTCTCCTTTG	0.453													A	56431356	C	A	56431356	3	1	103	1	0	0	0	0	1	0	0	0	11221	506	18	4	197	4	OR5AR1	11	56431356	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	50576	56431356	78575160	56	6908											
LRP5	4041	broad.mit.edu	37	chr11	68191121	68191121	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgggggtggtgctgcgtggGgaccgcgacaagcccagggc	6	5	20	10	3	0	0	0	0	0	0	0	2	0	1	2	6	3	1	2	6	1	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:68191121G>A	uc001ont.3	+	13	3267	c.3192G>A	c.(3190-3192)ggG>ggA	p.G1064G	LRP5_uc009ysg.3_Silent_p.G474G	NM_002335	NP_002326	O75197	LRP5_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 5 (LRP5), mRNA.	1064	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCTGCGTGGGGACCGCGACA	0.677													A	68191121	G	A	68191121	2	1	103	1	0	0	0	0	0	0	0	1	9030	1219	43	2		2	LRP5	11	68191121	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	11759765	68191121	66815395	57	6909											
CLPB	81570	broad.mit.edu	37	chr11	72005108	72005108	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtgcacattgtagccGtcgaccagcacatctgccac	10	8	8	15	2	1	0	0	0	1	0	2	1	1	0	4	0	4	3	4	0	2	3	rs147296630		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:72005108G>A	uc001osj.3	-	15	1883	c.1833C>T	c.(1831-1833)gaC>gaT	p.D611D	CLPB_uc010rqx.2_Silent_p.D566D|CLPB_uc010rqy.2_Silent_p.D552D|CLPB_uc001osk.3_Silent_p.D581D|CLPB_uc010rqz.2_Silent_p.D410D|CLPB_uc001osi.3_Silent_p.D219D	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	611					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						CATTGTAGCCGTCGACCAGCA	0.612													A	72005108	G	A	72005108	2	1	103	1	0	0	0	0	0	0	0	1	3582	1136	40	1		1	CLPB	11	72005108	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	3813987	72005108	63001408	58	6910											
TMEM25	84866	broad.mit.edu	37	chr11	118403822	118403822	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactacccctggctcacCaaccacacggtgcagctgca	11	5	8	17	1	1	1	1	0	0	1	1	1	1	1	4	2	6	4	4	2	3	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr11:118403822C>T	uc001ptk.4	+	3	747	c.573C>T	c.(571-573)acC>acT	p.T191T	TMEM25_uc010ryd.1_Silent_p.T191T|TMEM25_uc010ryf.2_Intron|TMEM25_uc010rye.2_Silent_p.T191T|TMEM25_uc009zad.3_Silent_p.T191T|TMEM25_uc001pth.3_Silent_p.T191T|TMEM25_uc001pti.3_Silent_p.T87T|TMEM25_uc001ptl.2_Silent_p.T191T|TMEM25_uc001ptm.2_Silent_p.T191T	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	191						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		CCTGGCTCACCAACCACACGG	0.632													T	118403822	C	T	118403822	2	4	103	1	0	0	0	0	0	0	0	1	16250	581	21	2		2	TMEM25	11	118403822	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	46398714	118403822	16602694	59	6911											
MFSD5	84975	broad.mit.edu	37	chr12	53646716	53646716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaccccctggaagggccTgcagcaatccctccttcctt	8	9	7	17	0	0	0	0	0	0	0	3	1	3	1	6	2	3	2	6	2	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:53646716T>A	uc001sch.2	+	1	565	c.418T>A	c.(418-420)Tgc>Agc	p.C140S	MFSD5_uc001sci.2_Missense_Mutation_p.C33S|MFSD5_uc021qye.1_Missense_Mutation_p.C33S	NM_001170790	NP_116278	Q6N075	MFSD5_HUMAN	Homo sapiens major facilitator superfamily domain containing 5 (MFSD5), transcript variant 1, mRNA.	33					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						TGGAAGGGCCTGCAGCAATCC	0.572													A	53646716	T	A	53646716	3	1	103	1	0	0	0	0	1	0	0	0	9609	1580	55	5	424	5	MFSD5	12	53646716	Missense_Mutation	SNP	T	TCGA-06-6694-01A-12D-1845-08		53646716	80205179	60	6912											
SPIC	121599	broad.mit.edu	37	chr12	101880531	101880531	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgccaattaccatgagctAaatcaccatgattgctaaat	15	12	5	9	0	1	2	1	2	0	0	1	2	1	2	3	0	4	2	3	0	7	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:101880531A>G	uc001tid.3	+	5	888	c.729A>G	c.(727-729)ctA>ctG	p.L243L	SPIC_uc010svp.2_Silent_p.L243L|SPIC_uc009zua.3_Silent_p.L118L|SPIC_uc021rcq.1_Silent_p.L118L	NM_152323	NP_689536	Q8N5J4	SPIC_HUMAN	Homo sapiens Spi-C transcription factor (Spi-1/PU.1 related) (SPIC), mRNA.	243						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	22						ACCATGAGCTAAATCACCATG	0.323													G	101880531	A	G	101880531	2	3	103	1	0	0	0	0	0	0	0	1	15147	349	13	3		3	SPIC	12	101880531	Silent	SNP	A	TCGA-06-6694-01A-12D-1845-08	48233815	101880531	31971364	61	6913											
CIT	11113	broad.mit.edu	37	chr12	120148180	120148180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcccttcctcggtgccCaccaacaccacctgcaaggg	9	6	9	17	1	0	1	0	0	0	1	2	1	1	1	6	2	4	1	6	2	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:120148180C>T	uc001txj.2	-	38	5003	c.4947G>A	c.(4945-4947)gtG>gtA	p.V1649V	CIT_uc001txh.2_Silent_p.V1126V|CIT_uc001txi.2_Silent_p.V1607V	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1607	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	p.N1649S(1)		breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CCTCGGTGCCCACCAACACCA	0.512													T	120148180	C	T	120148180	2	4	103	1	0	0	0	0	0	0	0	1	3469	581	21	2		2	CIT	12	120148180	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	18267649	120148180	13703715	62	6914											
OASL	8638	broad.mit.edu	37	chr12	121471350	121471350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacgagagcatcggggActctctgctccatcctcagg	9	8	12	12	2	2	3	1	1	1	2	6	5	4	4	2	3	2	2	2	3	1	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:121471350A>G	uc001tzj.1	-	1	401	c.395T>C	c.(394-396)gTc>gCc	p.V132A	OASL_uc001tzk.1_Missense_Mutation_p.V132A	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	132					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCATCGGGGACTCTCTGCTC	0.587													G	121471350	A	G	121471350	3	3	103	1	0	0	0	0	1	0	0	0	10878	275	10	3	1169	3	OASL	12	121471350	Missense_Mutation	SNP	A	TCGA-06-6694-01A-12D-1845-08	1323170	121471350	12380545	63	6915											
RIMBP2	23504	broad.mit.edu	37	chr12	130927081	130927081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccaggccgatgccGgaatggttgatgaagttctg	7	11	12	11	2	2	2	0	2	2	0	4	4	3	3	4	3	1	2	4	3	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr12:130927081G>A	uc001uil.2	-	7	981	c.765C>T	c.(763-765)tcC>tcT	p.S255S	RIMBP2_uc001uim.3_Silent_p.S163S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	255						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGCCGATGCCGGAATGGTTGA	0.597													A	130927081	G	A	130927081	2	1	103	1	0	0	0	0	0	0	0	1	13452	1103	39	1		1	RIMBP2	12	130927081	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	9455731	130927081	2924814	64	6916											
PABPC3	5042	broad.mit.edu	37	chr13	25671129	25671129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaacaaatttacgttggtCgagctcagaaaaaagtggaa	18	8	10	5	2	1	1	1	0	0	1	2	4	1	2	0	2	3	2	0	2	8	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr13:25671129C>T	uc001upy.3	+	0	854	c.793C>T	c.(793-795)Cga>Tga	p.R265*		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	265	RRM 3.				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		TTACGTTGGTCGAGCTCAGAA	0.403													T	25671129	C	T	25671129	4	4	103	1	0	0	0	0	0	1	0	0	11441	876	31	1	795	1	PABPC3	13	25671129	Nonsense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		25671129	89498749	65	6917											
OR4M1	441670	broad.mit.edu	37	chr14	20249075	20249075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcccagaggagttagtGatgatctgtagtagtggtct	9	13	12	7	0	2	3	0	2	2	1	3	4	3	4	2	2	0	3	2	2	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:20249075G>T	uc010tku.2	+	0	594	c.594G>T	c.(592-594)gtG>gtT	p.V198V		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGGAGTTAGTGATGATCTGTA	0.478													T	20249075	G	T	20249075	2	4	103	1	0	0	0	0	0	0	0	1	11151	1277	45	4		4	OR4M1	14	20249075	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		20249075	87100465	66	6918											
JPH4	84502	broad.mit.edu	37	chr14	24040215	24040215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaggacccctcgaggaCgagcccctcaggaccagcat	10	4	11	16	2	2	0	2	0	0	0	3	5	2	3	5	3	2	2	5	3	0	0	rs144311601		TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24040215C>T	uc001wkq.2	-	5	2643	c.1725G>A	c.(1723-1725)tcG>tcA	p.S575S	AP1G2_uc001wkl.2_5'Flank|AP1G2_uc001wkn.2_5'Flank|AP1G2_uc010tnp.1_5'Flank|AP1G2_uc010akt.3_5'Flank|JPH4_uc010tnr.1_Silent_p.S240S|JPH4_uc001wkr.2_Silent_p.S575S	NM_032452	NP_115828	Q96JJ6	JPH4_HUMAN	Homo sapiens junctophilin 4 (JPH4), transcript variant 1, mRNA.	575					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane		p.S575S(2)		endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		CCCTCGAGGACGAGCCCCTCA	0.687													T	24040215	C	T	24040215	2	4	103	1	0	0	0	0	0	0	0	1	8021	523	19	1		1	JPH4	14	24040215	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	3791140	24040215	83309325	67	6919											
IRF9	10379	broad.mit.edu	37	chr14	24635334	24635334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catctcttccaatacagatgGagcaggcctttgcccgatac	10	10	8	13	1	1	1	0	0	1	1	3	3	2	2	3	2	4	1	3	2	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr14:24635334G>A	uc001wmq.3	+	8	1931	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	RNF31_uc001wmp.3_Non-coding_Transcript|IRF9_uc010alj.3_Missense_Mutation_p.E155K	NM_006084	NP_006075	Q00978	IRF9_HUMAN	Homo sapiens interferon regulatory factor 9 (IRF9), mRNA.	371					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		AATACAGATGGAGCAGGCCTT	0.597													A	24635334	G	A	24635334	3	1	103	1	0	0	0	0	1	0	0	0	7895	1175	41	2	1141	2	IRF9	14	24635334	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	595119	24635334	82714206	68	6920											
MAP1A	4130	broad.mit.edu	37	chr15	43820051	43820051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccaatccccaagtcCtcctcaccccattcctatgg	9	8	6	18	0	1	1	1	0	0	1	5	1	5	1	8	2	0	0	8	2	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:43820051C>G	uc001zrt.3	+	3	6847	c.6380C>G	c.(6379-6381)cCt>cGt	p.P2127R		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	2127						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCCCCAAGTCCTCCTCACCCC	0.582													G	43820051	C	G	43820051	3	3	103	1	0	0	0	0	1	0	0	0	9302	681	24	4	6382	4	MAP1A	15	43820051	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		43820051	58711341	69	6921											
FGF7	2252	broad.mit.edu	37	chr15	49776594	49776594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctaaatggacacacaacGgaggggaaatgtttgttgcc	13	8	12	8	1	0	0	0	0	0	0	0	3	0	3	1	4	3	3	1	4	4	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:49776594G>A	uc001zxn.3	+	3	1007	c.478G>A	c.(478-480)Gga>Aga	p.G160R	C15orf33_uc001zxl.2_Intron|C15orf33_uc001zxm.3_Intron	NM_002009	NP_002000	P21781	FGF7_HUMAN	Homo sapiens fibroblast growth factor 7 (FGF7), mRNA.	160					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GACACACAACGGAGGGGAAAT	0.353													A	49776594	G	A	49776594	3	1	103	1	0	0	0	0	1	0	0	0	5906	1117	39	1	488	1	FGF7	15	49776594	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	5956543	49776594	52754798	70	6922											
BCL2L10	10017	broad.mit.edu	37	chr15	52404684	52404684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcacggaatccgccatCagcgccaccagctcgaagcg	11	3	12	15	5	1	1	1	0	0	1	3	4	2	2	4	1	4	2	4	1	2	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:52404684C>T	uc002abq.3	-	0	289	c.240G>A	c.(238-240)ctG>ctA	p.L80L		NM_020396	NP_065129	Q9HD36	B2L10_HUMAN	Homo sapiens BCL2-like 10 (apoptosis facilitator) (BCL2L10), mRNA.	70					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		AATCCGCCATCAGCGCCACCA	0.692													T	52404684	C	T	52404684	2	4	103	1	0	0	0	0	0	0	0	1	1373	813	29	2		2	BCL2L10	15	52404684	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	2628090	52404684	50126708	71	6923											
RFX7	64864	broad.mit.edu	37	chr15	56387837	56387837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaatgtggaaccttttGgtccttcttaacactgcctt	7	15	7	12	0	1	1	0	1	1	0	2	2	2	2	4	2	3	0	4	2	3	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:56387837G>T	uc010bfn.3	-	8	2089	c.2089C>A	c.(2089-2091)Caa>Aaa	p.Q697K	RFX7_uc010ugk.1_Non-coding_Transcript|RFX7_uc002adn.1_Missense_Mutation_p.Q511K	NM_022841	NP_073752	Q2KHR2	RFX7_HUMAN	Homo sapiens regulatory factor X, 7 (RFX7), mRNA.	600					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGAACCTTTTGGTCCTTCTTA	0.453													T	56387837	G	T	56387837	3	4	103	1	0	0	0	0	1	0	0	0	13356	1357	47	4	2297	4	RFX7	15	56387837	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	3983153	56387837	46143555	72	6924											
RPP25	54913	broad.mit.edu	37	chr15	75248658	75248658	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgacctggtgcaggccCgccaggcggcgcttgaggat	5	6	17	13	5	0	2	0	2	0	0	0	3	0	3	3	5	1	2	3	5	0	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:75248658C>A	uc002azj.1	-	0	1118	c.267G>T	c.(265-267)gcG>gcT	p.A89A		NM_017793	NP_060263	Q9BUL9	RPP25_HUMAN	Homo sapiens ribonuclease P/MRP 25kDa subunit (RPP25), mRNA.	89					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GGTGCAGGCCCGCCAGGCGGC	0.736													A	75248658	C	A	75248658	2	1	103	1	0	0	0	0	0	0	0	1	13702	639	23	4		4	RPP25	15	75248658	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	18860821	75248658	27282734	73	6925											
IGF1R	3480	broad.mit.edu	37	chr15	99251218	99251218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacattgtggggaataagccCccaaaggaatgtggggacct	12	8	13	8	0	0	0	0	0	0	0	0	3	0	3	3	5	2	0	3	5	5	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr15:99251218C>T	uc002bul.3	+	1	572	c.522C>T	c.(520-522)ccC>ccT	p.P174P	IGF1R_uc010urq.2_Silent_p.P174P|IGF1R_uc010bon.3_Silent_p.P174P	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	174					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GGAATAAGCCCCCAAAGGAAT	0.517													T	99251218	C	T	99251218	2	4	103	1	0	0	0	0	0	0	0	1	7629	610	22	2		2	IGF1R	15	99251218	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	24002560	99251218	3280174	74	6926											
TEKT5	146279	broad.mit.edu	37	chr16	10788195	10788195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttcacctcattggccGcgcactccagccgcctcttg	5	9	10	17	3	3	0	2	0	1	0	4	0	4	0	5	2	1	3	5	2	0	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:10788195G>A	uc002czz.1	-	0	608	c.536C>T	c.(535-537)gCg>gTg	p.A179V		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	179					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						CTCATTGGCCGCGCACTCCAG	0.577													A	10788195	G	A	10788195	3	1	103	1	0	0	0	0	1	0	0	0	15856	1087	38	1	949	1	TEKT5	16	10788195	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		10788195	79566558	75	6927											
ITGAM	3684	broad.mit.edu	37	chr16	31286944	31286944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagccgcctcgtgatcaCgtgttccaggtgaataactt	9	11	9	12	3	1	2	1	2	0	0	4	2	3	2	4	1	2	1	4	1	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr16:31286944C>T	uc002ebr.3	+	8	1031	c.933C>T	c.(931-933)caC>caT	p.H311H	ITGAM_uc002ebq.3_Silent_p.H311H|ITGAM_uc010cam.1_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	311	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTCGTGATCACGTGTTCCAGG	0.512													T	31286944	C	T	31286944	2	4	103	1	0	0	0	0	0	0	0	1	7945	535	19	1		1	ITGAM	16	31286944	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	20498749	31286944	59067809	76	6928											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7577568C>A	uc002gim.2	-	6	907	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			A	7577568	C	A	7577568	3	1	103	1	0	0	0	0	1	0	0	0	16482	478	17	4	577	4	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		7577568	73617642	77	6929											
LSMD1	84316	broad.mit.edu	37	chr17	7760481	7760503	+	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	CTCAGCCGCCGAGTCCTCGCGCT	-																															tctagctgctgtcgggcgcgCtcagccgccgagtcctcgcg																										TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:7760481_7760503delCTCAGCCGCCGAGTCCTCGCGCT	uc002gja.3	-	0	670_692	c.239_261delAGCGCGAGGACTCGGCGGCTGAG	c.(238-261)gagcgcgaggactcggcggctgagfs	p.E80fs	LSMD1_uc002giz.3_Frame_Shift_Del_p.E32fs|CYB5D1_uc002gjb.4_5'Flank|CYB5D1_uc021tpi.1_5'Flank	NM_032356	NP_115732	Q9BRA0	LSMD1_HUMAN	Homo sapiens LSM domain containing 1 (LSMD1), mRNA.	32						cytoplasm|nucleus				endometrium(1)|lung(2)|ovary(1)	4		all_cancers(10;0.11)|Prostate(122;0.219)				GTCGGGCGCGCTCAGCCGCCGAGTCCTCGCGCTCTCCGTCCGA	0.682											OREG0024146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	7760503	CTCAGCCGCCGAGTCCTCGCGCT	-	7760481	7	5	103	1	0	1	0	1	0	0	0	0	9132	796	28	0	268	0	LSMD1	17	7760481	Frame_Shift_Del	DEL	CTCAGCCGCCGAGTCCTCGCGCT	TCGA-06-6694-01A-12D-1845-08	182913	7760481	73434729	78	6930											
PER1	5187	broad.mit.edu	37	chr17	8048179	8048179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttccttctgtgtgtgcaggGacagcacggccttggtcagc	5	11	13	12	1	2	0	1	0	1	0	3	1	3	1	2	3	3	2	2	3	0	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:8048179G>A	uc002gkd.3	-	17	2589	c.2351C>T	c.(2350-2352)tCc>tTc	p.S784F	PER1_uc010cns.3_5'Flank|PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Missense_Mutation_p.S768F	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	784	CSNK1E binding domain (By similarity).				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGTGTGCAGGGACAGCACGGC	0.682			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					A	8048179	G	A	8048179	3	1	103	1	0	0	0	0	1	0	0	0	11805	1174	41	2	1545	2	PER1	17	8048179	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	287698	8048179	73147031	79	6931											
LLGL1	3996	broad.mit.edu	37	chr17	18135847	18135847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcacaggcctgcaccGggatgcagccactgtcacac	9	6	12	14	1	2	0	2	0	0	0	2	2	2	2	3	3	3	3	3	3	0	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:18135847G>A	uc002gsp.3	+	2	279	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	73					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GGCCTGCACCGGGATGCAGCC	0.587													A	18135847	G	A	18135847	3	1	103	1	0	0	0	0	1	0	0	0	8894	1116	39	1	228	1	LLGL1	17	18135847	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	10087668	18135847	63059363	80	6932											
MBTD1	54799	broad.mit.edu	37	chr17	49270165	49270165	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgatgctggaggctgtagTtgatatccagttaactgaca	10	13	12	6	0	0	3	0	3	0	0	1	4	1	4	1	2	2	5	1	2	3	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:49270165T>C	uc002itr.4	-	14	2012	c.1668A>G	c.(1666-1668)caA>caG	p.Q556Q	MBTD1_uc002itp.4_Silent_p.Q392Q|MBTD1_uc002itq.4_3'UTR	NM_017643	NP_060113	Q05BQ5	MBTD1_HUMAN	Homo sapiens mbt domain containing 1 (MBTD1), mRNA.	556					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q392Q(2)		breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(22;1.54e-08)			GAGGCTGTAGTTGATATCCAG	0.423													C	49270165	T	C	49270165	2	2	103	1	0	0	0	0	0	0	0	1	9435	1722	60	3		3	MBTD1	17	49270165	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	31134318	49270165	31925045	81	6933											
BRIP1	83990	broad.mit.edu	37	chr17	59761146	59761147	+	Frame_Shift_Ins	INS	-	-	T																															agagcggatgttcagaatgaINSttttttctagtaagggtggc																										TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr17:59761146_59761147insT	uc002izk.2	-	19	3566_3567	c.3260_3261insA	c.(3259-3261)aatfs	p.N1087fs		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	1087					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						GTTCAGAATGATTTTTTCTAGT	0.376			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					T	59761147	-	T	59761146	7	5	103	1	0	1	1	0	0	0	0	0	1523	330	12	0	492	0	BRIP1	17	59761146	Frame_Shift_Ins	INS	-	TCGA-06-6694-01A-12D-1845-08	10490981	59761146	21434064	82	6934											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566526	45566526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcccagaggcccccccGgcaggtcagggaacatgtcc	7	5	14	15	1	1	1	1	0	0	1	3	2	3	2	5	5	1	1	5	5	1	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr18:45566526G>A	uc010dnv.3	-	2	1455	c.1019C>T	c.(1018-1020)cCg>cTg	p.P340L	ZBTB7C_uc002ldb.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnu.3_Missense_Mutation_p.P327L|ZBTB7C_uc010dnw.3_Missense_Mutation_p.P318L|ZBTB7C_uc010dnx.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dny.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dnz.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doi.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doj.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dok.1_Missense_Mutation_p.P367L|ZBTB7C_uc010dol.1_Missense_Mutation_p.P327L|ZBTB7C_uc010doa.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dob.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doc.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dod.1_Missense_Mutation_p.P340L|ZBTB7C_uc010doe.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dof.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dog.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doh.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dom.1_Missense_Mutation_p.P327L|ZBTB7C_uc010don.1_Missense_Mutation_p.P326L|ZBTB7C_uc010dop.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doq.1_Missense_Mutation_p.P327L|ZBTB7C_uc010dor.1_Missense_Mutation_p.P340L|ZBTB7C_uc010dos.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dot.1_Missense_Mutation_p.P318L|ZBTB7C_uc010doo.1_Missense_Mutation_p.P318L|ZBTB7C_uc010dou.1_Missense_Mutation_p.P327L	NM_001039360	NP_001034449	A1YPR0	ZBT7C_HUMAN	Homo sapiens zinc finger and BTB domain containing 7C (ZBTB7C), mRNA.	318						intracellular	nucleic acid binding|zinc ion binding	p.P318L(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGGCCCCCCCGGCAGGTCAGG	0.617													A	45566526	G	A	45566526	3	1	103	1	0	0	0	0	1	0	0	0	17656	1116	39	1	914	1	ZBTB7C	18	45566526	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		45566526	32510722	83	6935											
C3	718	broad.mit.edu	37	chr19	6680198	6680198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataggcgtagaccttgactGctccaggctggataagctct	10	10	11	10	1	1	2	0	1	1	1	2	3	2	3	2	3	2	4	2	3	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:6680198G>T	uc002mfm.3	-	35	4489	c.4427C>A	c.(4426-4428)gCa>gAa	p.A1476E		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1476					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GACCTTGACTGCTCCAGGCTG	0.512													T	6680198	G	T	6680198	3	4	103	1	0	0	0	0	1	0	0	0	2225	1319	46	4	588	4	C3	19	6680198	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		6680198	52448785	84	6936											
KANK3	256949	broad.mit.edu	37	chr19	8389585	8389585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtccaggcgcccatactCactggcacacatcagcgctg	8	7	11	15	2	2	0	2	0	0	0	3	0	3	0	2	3	2	2	2	3	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:8389585C>T	uc010dwa.3	-	8	2278	c.2212G>A	c.(2212-2214)Gag>Aag	p.E738K		NM_198471	NP_940873	Q6NY19	KANK3_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 3 (KANK3), mRNA.	738										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						CGCCCATACTCACTGGCACAC	0.627													T	8389585	C	T	8389585	3	4	103	1	0	0	0	0	1	0	0	0	8036	835	29	2	265	2	KANK3	19	8389585	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	1709387	8389585	50739398	85	6937											
ZNF626	199777	broad.mit.edu	37	chr19	20807460	20807460	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtagtaaggttagaggagTacttaaaagctttgccacat	13	12	11	5	0	0	1	0	0	0	1	0	2	0	2	1	2	3	5	1	2	6	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:20807460T>C	uc002npb.1	-	3	1373	c.1223A>G	c.(1222-1224)tAc>tGc	p.Y408C	ZNF626_uc002npc.1_Missense_Mutation_p.Y332C	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Y408C(1)		breast(1)|endometrium(1)|lung(3)|skin(1)	6						GTTAGAGGAGTACTTAAAAGC	0.408													C	20807460	T	C	20807460	3	2	103	1	0	0	0	0	1	0	0	0	18151	1638	57	3	367	3	ZNF626	19	20807460	Missense_Mutation	SNP	T	TCGA-06-6694-01A-12D-1845-08	12417875	20807460	38321523	86	6938											
ZNF257	113835	broad.mit.edu	37	chr19	22270778	22270778	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgtttttatttcttttaGttatgtgttctcatattgct	5	26	6	4	0	2	0	1	0	2	0	3	0	2	0	0	0	1	5	0	0	4	11			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:22270778G>A	uc010ecx.3	+	4	396	c.227_splice	c.e4-1	p.V76_splice	ZNF257_uc010ecy.3_Splice_Site_p.V44_splice	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATTTCTTTTAGTTATGTGTTC	0.294													A	22270778	G	A	22270778	5	1	103	1	0	0	0	0	0	0	1	0	17901	1043	36	2	240	2	ZNF257	19	22270778	Splice_Site	SNP	G	TCGA-06-6694-01A-12D-1845-08	1463318	22270778	36858205	87	6939											
ZNF302	55900	broad.mit.edu	37	chr19	35175737	35175737	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgaatgtgggaaggcCtttagccatggctcatcact	9	12	11	9	0	2	1	2	1	0	0	2	2	2	2	2	3	2	2	2	3	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:35175737C>G	uc002nvr.1	+	5	1190	c.927C>G	c.(925-927)gcC>gcG	p.A309A	ZNF302_uc002nvp.1_Silent_p.A265A|ZNF302_uc002nvq.1_Silent_p.A265A|ZNF302_uc002nvs.1_Silent_p.A265A	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	344					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q309Q(1)		kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GTGGGAAGGCCTTTAGCCATG	0.448													G	35175737	C	G	35175737	2	3	103	1	0	0	0	0	0	0	0	1	17933	668	24	4		4	ZNF302	19	35175737	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	12904959	35175737	23953246	88	6940											
CGB8	94115	broad.mit.edu	37	chr19	49551985	49551985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggccctgcagtcttacctgGaacatctccatccttggtgt	6	12	10	13	0	2	0	0	0	2	0	4	1	3	1	4	3	3	1	4	3	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:49551985G>A	uc002pmb.4	-	0	384	c.12C>T	c.(10-12)ttC>ttT	p.F4F	CGB8_uc002pmc.3_Intron	NM_033183	NP_149439	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 8 (CGB8), mRNA.	4			F -> L (in dbSNP:rs6516).		apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GTCTTACCTGGAACATCTCCA	0.602													A	49551985	G	A	49551985	2	1	103	1	0	0	0	0	0	0	0	1	3331	1165	41	2		2	CGB8	19	49551985	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	14376248	49551985	9576998	89	6941											
C19orf18	147685	broad.mit.edu	37	chr19	58485726	58485726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatggagtccatctgcataCggcaagcataaatgaagttg	13	9	12	7	1	1	1	0	1	1	0	2	3	2	3	1	3	3	4	1	3	5	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr19:58485726C>T	uc002qqv.3	-	0	177	c.75G>A	c.(73-75)ccG>ccA	p.P25P		NM_152474	NP_689687	Q8NEA5	CS018_HUMAN	Homo sapiens chromosome 19 open reading frame 18 (C19orf18), mRNA.	25						integral to membrane				large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)		CATCTGCATACGGCAAGCATA	0.393													T	58485726	C	T	58485726	2	4	103	1	0	0	0	0	0	0	0	1	1929	523	19	1		1	C19orf18	19	58485726	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	8933741	58485726	643257	90	6942											
RALGAPA2	57186	broad.mit.edu	37	chr20	20571899	20571899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgctgctgctgtcccaCtgtgagatggccagatccgg	6	9	13	13	1	0	2	0	1	0	2	2	4	2	2	4	2	3	3	4	2	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:20571899C>T	uc002wrz.3	-	16	2406	c.2263G>A	c.(2263-2265)Gtg>Atg	p.V755M	RALGAPA2_uc002wry.3_Missense_Mutation_p.V370M|RALGAPA2_uc010zsg.2_Missense_Mutation_p.V203M	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	755					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGCTGTCCCACTGTGAGATGG	0.512													T	20571899	C	T	20571899	3	4	103	1	0	0	0	0	1	0	0	0	13102	565	20	2	3450	2	RALGAPA2	20	20571899	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08		20571899	42453621	91	6943											
MYLK2	85366	broad.mit.edu	37	chr20	30409482	30409482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttccctcagagaaatcCgaggtggggcaggccctctg	7	8	14	12	1	2	1	1	0	1	1	4	3	4	1	3	4	0	3	3	4	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:30409482C>T	uc002wwq.2	+	3	816	c.714C>T	c.(712-714)tcC>tcT	p.S238S		NM_033118	NP_149109	Q9H1R3	MYLK2_HUMAN	Homo sapiens myosin light chain kinase 2 (MYLK2), mRNA.	238					cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CAGAGAAATCCGAGGTGGGGC	0.637													T	30409482	C	T	30409482	2	4	103	1	0	0	0	0	0	0	0	1	10133	639	23	1		1	MYLK2	20	30409482	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	9837583	30409482	32616038	92	6944											
TTPAL	79183	broad.mit.edu	37	chr20	43115268	43115268	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcggataaaagcagtccaTgtggtgaatgaacctcgaat	14	10	10	7	2	0	2	0	2	0	0	3	4	1	3	2	2	2	1	2	2	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr20:43115268T>C	uc002xmc.1	+	4	796	c.672T>C	c.(670-672)caT>caC	p.H224H	TTPAL_uc002xmd.1_Silent_p.H224H|TTPAL_uc010ggr.1_Silent_p.H37H	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	224	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AAGCAGTCCATGTGGTGAATG	0.408													C	43115268	T	C	43115268	2	2	103	1	0	0	0	0	0	0	0	1	16839	1461	51	3		3	TTPAL	20	43115268	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	12705786	43115268	19910252	93	6945											
TRAPPC10	7109	broad.mit.edu	37	chr21	45513965	45513965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatctacagcaagcagtcgGtgttcttcgtctgggaactc	8	11	10	12	2	3	0	0	0	3	0	6	1	3	1	1	2	4	3	1	2	3	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:45513965G>A	uc002zea.3	+	19	3188	c.3019G>A	c.(3019-3021)Gtg>Atg	p.V1007M	TRAPPC10_uc010gpo.3_Missense_Mutation_p.V718M|TRAPPC10_uc011afa.2_Missense_Mutation_p.V385M|TRAPPC10_uc011afb.1_Missense_Mutation_p.V112M	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	1007					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity	p.V1007L(2)|p.V1007A(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CAAGCAGTCGGTGTTCTTCGT	0.542													A	45513965	G	A	45513965	3	1	103	1	0	0	0	0	1	0	0	0	16558	1261	44	2	3097	2	TRAPPC10	21	45513965	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08		45513965	2615930	94	6946											
COL6A1	1291	broad.mit.edu	37	chr21	47421892	47421892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttcgagccagggcagtcGtacgcgggtgtggtgcagta	7	8	17	9	4	0	0	0	0	0	0	2	1	0	0	1	3	3	5	1	3	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr21:47421892G>A	uc002zhu.1	+	30	2076	c.1974G>A	c.(1972-1974)tcG>tcA	p.S658S	COL6A1_uc002zhv.1_5'UTR	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	658	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CAGGGCAGTCGTACGCGGGTG	0.652													A	47421892	G	A	47421892	2	1	103	1	0	0	0	0	0	0	0	1	3730	1132	40	1		1	COL6A1	21	47421892	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	1907927	47421892	708003	95	6947											
CCT8L2	150160	broad.mit.edu	37	chr22	17072055	17072055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcatttctgccatcacGtctgagacagctaagcctgc	9	10	7	15	1	4	1	2	1	2	1	4	2	4	1	3	0	4	1	3	0	1	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chr22:17072055G>A	uc002zlp.1	-	0	1646	c.1386C>T	c.(1384-1386)gaC>gaT	p.D462D		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	462					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.D462H(1)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CTGCCATCACGTCTGAGACAG	0.527													A	17072055	G	A	17072055	2	1	103	1	0	0	0	0	0	0	0	1	2991	1136	40	1		1	CCT8L2	22	17072055	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		17072055	34232511	96	6948											
RAI2	10742	broad.mit.edu	37	chrX	17819726	17819726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggcaggaccagaggggaGttgaggtgctgaaagacgtg	10	6	19	6	2	0	4	0	2	0	2	0	6	0	6	1	5	2	3	1	5	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:17819726G>A	uc022btm.1	-	0	405	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RAI2_uc004cyf.3_Silent_p.N135N|RAI2_uc004cyg.3_Silent_p.N135N|RAI2_uc011miy.2_Silent_p.N85N|RAI2_uc022btl.1_Silent_p.N135N|RAI2_uc004cyh.4_Silent_p.N135N|RAI2_uc010nfa.3_Silent_p.N135N	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	135					embryo development			p.N135D(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					CCAGAGGGGAGTTGAGGTGCT	0.642													A	17819726	G	A	17819726	2	1	103	1	0	0	0	0	0	0	0	1	13097	1020	36	2		2	RAI2	23	17819726	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08		17819726	137450834	97	6949											
ACOT9	23597	broad.mit.edu	37	chrX	23731303	23731303	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatgttgcatccaaaacaGgacaaaattcatcaccatgt	17	9	5	10	0	2	0	2	0	0	0	3	1	3	1	2	1	2	2	2	1	5	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:23731303G>T	uc004dao.3	-	8	757	c.611C>A	c.(610-612)cCt>cAt	p.P204H	ACOT9_uc004dap.3_Missense_Mutation_p.P195H|ACOT9_uc011mjt.2_Intron|ACOT9_uc004dar.3_Missense_Mutation_p.P135H|ACOT9_uc004dat.1_Missense_Mutation_p.P195H	NM_001037171	NP_001032248	Q9Y305	ACOT9_HUMAN	Homo sapiens acyl-CoA thioesterase 9 (ACOT9), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	195					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity	p.V204M(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						ATCCAAAACAGGACAAAATTC	0.328													T	23731303	G	T	23731303	3	4	103	1	0	0	0	0	1	0	0	0	157	1000	35	4	767	4	ACOT9	23	23731303	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	5911577	23731303	131539257	98	6950											
FAM47C	442444	broad.mit.edu	37	chrX	37027694	37027694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgtctcctctcttccCggagcctcccaagactcgca	6	10	9	16	2	2	1	0	0	2	1	7	3	4	3	4	2	1	1	4	2	1	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:37027694C>T	uc004ddl.2	+	0	1263	c.1211C>T	c.(1210-1212)cCg>cTg	p.P404L		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	404										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCTCTCTTCCCGGAGCCTCCC	0.607													T	37027694	C	T	37027694	3	4	103	1	0	0	0	0	1	0	0	0	5622	652	23	1	1213	1	FAM47C	23	37027694	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	13296391	37027694	118242866	99	6951											
SYN1	6853	broad.mit.edu	37	chrX	47478794	47478794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcagcaccctggaggCggctcccccgcggcctgcgc	5	3	14	19	4	0	0	0	0	0	0	1	2	1	1	5	4	3	3	5	4	0	0			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47478794C>G	uc004die.3	-	0	463	c.334G>C	c.(334-336)Gcc>Ccc	p.A112P	SYN1_uc004did.3_Missense_Mutation_p.A112P	NM_006950	NP_008881	P17600	SYN1_HUMAN	Homo sapiens synapsin I (SYN1), transcript variant Ia, mRNA.	112	B; linker.					cell junction|Golgi apparatus	actin binding|ATP binding|ligase activity|transporter activity	p.A111A(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(6)|lung(6)|ovary(1)	21						ACCCTGGAGGCGGCTCCCCCG	0.716													G	47478794	C	G	47478794	3	3	103	1	0	0	0	0	1	0	0	0	15537	768	27	4	1835	4	SYN1	23	47478794	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	10451100	47478794	107791766	100	6952											
ZNF182	7569	broad.mit.edu	37	chrX	47836621	47836621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acattcaggacactcaaaggGtctctctcctgtatgagttc	10	12	8	11	0	4	1	2	1	2	0	7	2	4	2	1	2	0	2	1	2	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:47836621G>A	uc004dir.3	-	6	1211	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	ZNF182_uc004dis.3_Missense_Mutation_p.P270S|ZNF182_uc004dit.3_Missense_Mutation_p.P289S	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CACTCAAAGGGTCTCTCTCCT	0.403													A	47836621	G	A	47836621	3	1	103	1	0	0	0	0	1	0	0	0	17851	1261	44	2	1058	2	ZNF182	23	47836621	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	357827	47836621	107433939	101	6953											
SMC1A	8243	broad.mit.edu	37	chrX	53439849	53439849	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggtctgcctcttaCttgatctccttctcaatctg	6	14	7	14	0	5	1	1	1	5	0	7	1	5	1	3	2	2	0	3	2	2	3			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:53439849C>T	uc004dsg.3	-	5	923	c.854_splice	c.e5+1	p.K285_splice	SMC1A_uc011moe.2_Splice_Site_p.K263_splice|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	285					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CTGCCTCTTACTTGAtctcct	0.502													T	53439849	C	T	53439849	5	4	103	1	0	0	0	0	0	0	1	0	14875	579	20	2	2930	2	SMC1A	23	53439849	Splice_Site	SNP	C	TCGA-06-6694-01A-12D-1845-08	5603228	53439849	101830711	102	6954											
P2RY10	27334	broad.mit.edu	37	chrX	78216911	78216911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccttgcaagtctctgctgCcttttggatccaattcttta	6	17	7	11	0	2	0	0	0	2	0	4	1	3	1	3	1	4	2	3	1	3	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:78216911C>T	uc022bzl.1	+	0	894	c.894C>T	c.(892-894)tgC>tgT	p.C298C	P2RY10_uc004ede.3_Silent_p.C298C|P2RY10_uc004edf.3_Silent_p.C298C	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	298						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						GTCTCTGCTGCCTTTTGGATC	0.483													T	78216911	C	T	78216911	2	4	103	1	0	0	0	0	0	0	0	1	11423	747	26	2		2	P2RY10	23	78216911	Silent	SNP	C	TCGA-06-6694-01A-12D-1845-08	24777062	78216911	77053649	103	6955											
PABPC5	140886	broad.mit.edu	37	chrX	90690820	90690820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaacaccatgaattttGatttgattaatggaaaacca	15	13	6	7	0	0	4	0	4	0	0	0	5	0	5	3	1	2	0	3	1	5	5			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690820G>T	uc022bzs.1	+	0	244	c.244G>T	c.(244-246)Gat>Tat	p.D82Y	PABPC5_uc004efg.3_Missense_Mutation_p.D82Y	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	82	RRM 1.					cytoplasm	nucleotide binding|RNA binding	p.F81L(1)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CATGAATTTTGATTTGATTAA	0.483													T	90690820	G	T	90690820	3	4	103	1	0	0	0	0	1	0	0	0	11443	1290	45	4	246	4	PABPC5	23	90690820	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	12473909	90690820	64579740	104	6956											
PABPC5	140886	broad.mit.edu	37	chrX	90690988	90690988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattctgtcctgcaaagtcGtatgcgatgacaacggctct	10	11	9	11	3	2	1	0	1	2	0	4	2	3	1	1	1	3	3	1	1	3	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:90690988G>A	uc022bzs.1	+	0	412	c.412G>A	c.(412-414)Gta>Ata	p.V138I	PABPC5_uc004efg.3_Missense_Mutation_p.V138I	NM_080832	NP_543022	Q96DU9	PABP5_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 5 (PABPC5), mRNA.	138	RRM 2.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CTGCAAAGTCGTATGCGATGA	0.453													A	90690988	G	A	90690988	3	1	103	1	0	0	0	0	1	0	0	0	11443	1145	40	1	414	1	PABPC5	23	90690988	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	168	90690988	64579572	105	6957											
BHLHB9	80823	broad.mit.edu	37	chrX	102005060	102005060	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcagttttccttccccTgaaatgagaaaaaagactgt	12	13	7	9	0	1	3	1	2	0	2	3	4	3	3	3	0	1	2	3	0	4	4			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:102005060T>A	uc022cbi.1	+	0	1137	c.1137T>A	c.(1135-1137)ccT>ccA	p.P379P	BHLHB9_uc010nog.3_Silent_p.P379P|BHLHB9_uc011mrq.2_Silent_p.P379P|BHLHB9_uc011mrr.2_Silent_p.P379P|BHLHB9_uc011mrs.2_Silent_p.P379P|BHLHB9_uc011mrt.2_Silent_p.P379P|BHLHB9_uc004ejo.3_Silent_p.P379P|BHLHB9_uc011mru.2_Silent_p.P379P|BHLHB9_uc011mrv.2_Silent_p.P379P	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	379						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTCCTTCCCCTGAAATGAGAA	0.378													A	102005060	T	A	102005060	2	1	103	1	0	0	0	0	0	0	0	1	1426	1567	55	5		5	BHLHB9	23	102005060	Silent	SNP	T	TCGA-06-6694-01A-12D-1845-08	11314072	102005060	53265500	106	6958											
AKAP14	158798	broad.mit.edu	37	chrX	119048716	119048716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagagtttgtagagaggaaaGacttaattcacagcttcctc	13	12	9	7	0	1	3	1	0	0	3	3	5	2	4	1	1	1	3	1	1	4	6			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:119048716G>C	uc004ese.3	+	4	454	c.316G>C	c.(316-318)Gac>Cac	p.D106H	AKAP14_uc004esf.3_Intron	NM_178813	NP_848928	Q86UN6	AKA28_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 14 (AKAP14), transcript variant 1, mRNA.	106						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGAGAGGAAAGACTTAATTCA	0.408													C	119048716	G	C	119048716	3	2	103	1	0	0	0	0	1	0	0	0	450	942	33	4	335	4	AKAP14	23	119048716	Missense_Mutation	SNP	G	TCGA-06-6694-01A-12D-1845-08	17043656	119048716	36221844	107	6959											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299171	125299171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctccacatccctcggaCggatgtgggcatatactggg	7	9	13	12	2	0	0	0	0	0	0	3	2	2	2	3	5	1	1	3	5	2	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:125299171C>T	uc004euk.2	-	0	910	c.737G>A	c.(736-738)cGt>cAt	p.R246H		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	246										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						ATCCCTCGGACGGATGTGGGC	0.647													T	125299171	C	T	125299171	3	4	103	1	0	0	0	0	1	0	0	0	4299	536	19	1	658	1	DCAF12L2	23	125299171	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	6250455	125299171	29971389	108	6960											
ZNF449	203523	broad.mit.edu	37	chrX	134494349	134494349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggagagacacctgagaactCcaacttggaagaacctctca	14	6	10	11	0	1	3	1	1	1	3	3	7	2	5	3	2	3	0	3	2	4	1			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:134494349C>G	uc004eys.3	+	4	1070	c.905C>G	c.(904-906)tCc>tGc	p.S302C	ZNF449_uc004eyt.3_Missense_Mutation_p.S182C|ZNF449_uc004eyu.3_Missense_Mutation_p.S108C	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN	Homo sapiens zinc finger protein 449 (ZNF449), mRNA.	302					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGAGAACTCCAACTTGGAA	0.468													G	134494349	C	G	134494349	3	3	103	1	0	0	0	0	1	0	0	0	18021	855	30	4	919	4	ZNF449	23	134494349	Missense_Mutation	SNP	C	TCGA-06-6694-01A-12D-1845-08	9195178	134494349	20776211	109	6961											
FLNA	2316	broad.mit.edu	37	chrX	153581222	153581222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtgaccctgcacgtcccGtcctccaggtcctctgtgtt	4	12	10	15	2	1	1	0	1	1	0	5	1	5	1	5	2	1	2	5	2	1	2			TCGA-06-6694-01A-12D-1845-08	TCGA-06-6694-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b5a5717d-0e3d-4b44-82f3-5b68187beb52	76e56e2a-adf5-4aab-98e8-9c77fa53c024	g.chrX:153581222G>A	uc004fkk.2	-	38	6546	c.6297C>T	c.(6295-6297)gaC>gaT	p.D2099D	FLNA_uc011mzn.1_Silent_p.D232D|FLNA_uc010nuu.1_Silent_p.D2091D	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	2099					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGCACGTCCCGTCCTCCAGGT	0.602													A	153581222	G	A	153581222	2	1	103	1	0	0	0	0	0	0	0	1	5982	1136	40	1		1	FLNA	23	153581222	Silent	SNP	G	TCGA-06-6694-01A-12D-1845-08	19086873	153581222	1689338	110	6962											
NBPF1	55672	broad.mit.edu	37	chr1	16892156	16892156	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagagaaaagccaacatgTttttcctccaatgcataaaa	17	10	5	9	0	1	1	1	0	0	1	3	2	3	1	3	0	3	2	3	0	7	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:16892156T>C	uc009vos.1	-	26	3924	c.3036A>G	c.(3034-3036)aaA>aaG	p.K1012K	AB1_uc001ayw.3_5'Flank	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	1012	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGCCAACATGTTTTTCCTCCA	0.438													C	16892156	T	C	16892156	2	2	104	1	0	0	0	0	0	0	0	1	10268	1722	60	3		3	NBPF1	1	16892156	Silent	SNP	T	TCGA-06-6695-01A-11D-1845-08		16892156	232358465	1	6963											
EPHA8	2046	broad.mit.edu	37	chr1	22924331	22924331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccatcccaacatcatccGcctcgagggtgtcgtcaccc	8	7	8	18	4	2	0	2	0	0	0	6	2	4	0	5	1	1	0	5	1	1	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:22924331G>A	uc001bfx.1	+	10	2218	c.2093G>A	c.(2092-2094)cGc>cAc	p.R698H		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	698	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AACATCATCCGCCTCGAGGGT	0.642													A	22924331	G	A	22924331	3	1	104	1	0	0	0	0	1	0	0	0	5214	1087	38	1	2308	1	EPHA8	1	22924331	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	6032175	22924331	226326290	2	6964											
ATP1A2	477	broad.mit.edu	37	chr1	160106465	160106465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgactgggatgaccGgaccatgaatgatctggagg	9	7	14	11	3	1	3	0	3	1	0	2	7	1	6	4	4	0	0	4	4	1	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:160106465G>A	uc001fvc.3	+	18	2801	c.2669G>A	c.(2668-2670)cGg>cAg	p.R890Q	ATP1A2_uc001fvb.2_Missense_Mutation_p.R890Q|ATP1A2_uc001fvd.3_Missense_Mutation_p.R609Q	NM_000702	NP_000693	P50993	AT1A2_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 2 polypeptide (ATP1A2), mRNA.	890					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TGGGATGACCGGACCATGAAT	0.552													A	160106465	G	A	160106465	3	1	104	1	0	0	0	0	1	0	0	0	1134	1116	39	1	2743	1	ATP1A2	1	160106465	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	137182134	160106465	89144156	3	6965											
SLC26A9	115019	broad.mit.edu	37	chr1	205897957	205897957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccacctggactcacccGcgttggatttctcccacgat	6	10	10	15	3	2	0	1	0	1	0	3	3	2	2	4	3	0	1	4	3	0	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:205897957G>A	uc001hdp.3	-	7	1065	c.951C>T	c.(949-951)cgC>cgT	p.R317R	SLC26A9_uc001hdo.3_5'Flank|SLC26A9_uc001hdq.3_Silent_p.R317R	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	317						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			GGACTCACCCGCGTTGGATTT	0.577													A	205897957	G	A	205897957	2	1	104	1	0	0	0	0	0	0	0	1	14618	1074	38	1		1	SLC26A9	1	205897957	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	45791492	205897957	43352664	4	6966											
RYR2	6262	broad.mit.edu	37	chr1	237659969	237659969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggatattctccctaccCtggagggggcgaagagtggg	9	8	16	8	1	1	2	0	1	1	1	2	5	1	4	2	5	1	0	2	5	4	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr1:237659969C>A	uc001hyl.1	+	19	2240	c.2120C>A	c.(2119-2121)cCt>cAt	p.P707H		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	707	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G707A(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCTCCCTACCCTGGAGGGGGC	0.507													A	237659969	C	A	237659969	3	1	104	1	0	0	0	0	1	0	0	0	13860	681	24	4	2198	4	RYR2	1	237659969	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	31762012	237659969	11590652	5	6967											
EPAS1	2034	broad.mit.edu	37	chr2	46608818	46608818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaagctgaagctgaagcGacagctggagtatgaagagc	15	5	13	8	1	0	4	0	3	0	1	0	6	0	5	0	1	6	4	0	1	6	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:46608818G>A	uc002ruv.3	+	12	2639	c.2129G>A	c.(2128-2130)cGa>cAa	p.R710Q	EPAS1_uc002ruw.3_Missense_Mutation_p.R176Q	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	710					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.R710Q(4)|p.R710*(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAGCTGAAGCGACAGCTGGAG	0.617													A	46608818	G	A	46608818	3	1	104	1	0	0	0	0	1	0	0	0	5191	1058	37	1	2179	1	EPAS1	2	46608818	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		46608818	196590555	6	6968											
GKN1	56287	broad.mit.edu	37	chr2	69207132	69207132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgacctgagcaagttcGgaaaaaacattgcaaacatg	16	8	9	8	2	0	2	0	2	0	0	2	4	0	3	1	1	4	3	1	1	5	2	rs145566771		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:69207132G>A	uc002sfc.3	+	4	508	c.445G>A	c.(445-447)Gga>Aga	p.G149R		NM_019617	NP_062563	Q9NS71	GKN1_HUMAN	Homo sapiens gastrokine 1 (GKN1), mRNA.	149	BRICHOS.				digestion|positive regulation of cell division	extracellular region				breast(2)|large_intestine(4)|lung(5)	11						GAGCAAGTTCGGAAAAAACAT	0.507													A	69207132	G	A	69207132	3	1	104	1	0	0	0	0	1	0	0	0	6480	1117	39	1	463	1	GKN1	2	69207132	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	22598314	69207132	173992241	7	6969											
YSK4	80122	broad.mit.edu	37	chr2	135745418	135745418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcctcttccctaactgcagGaatattgccttccttcaaat	10	14	4	13	0	2	0	1	0	1	0	5	1	5	1	4	1	3	1	4	1	4	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:135745418G>A	uc002tue.1	-	6	1055	c.1024C>T	c.(1024-1026)Cct>Tct	p.P342S	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.P229S|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.P70S|YSK4_uc002tui.4_Missense_Mutation_p.P359S	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	342							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTAACTGCAGGAATATTGCCT	0.368													A	135745418	G	A	135745418	3	1	104	1	0	0	0	0	1	0	0	0	17597	1174	41	2	2978	2	YSK4	2	135745418	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	66538286	135745418	107453955	8	6970											
RAPGEF4	11069	broad.mit.edu	37	chr2	173866027	173866027	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttattatgatgcactGtgtttttatgccaaataccc	10	17	6	8	0	0	2	0	2	0	0	0	2	0	2	2	0	3	2	2	0	5	7			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr2:173866027G>C	uc002uhv.4	+	16	1800	c.1613G>C	c.(1612-1614)tGt>tCt	p.C538S	RAPGEF4_uc002uhw.4_Missense_Mutation_p.C394S|RAPGEF4_uc010zec.1_Missense_Mutation_p.C385S|RAPGEF4_uc010zed.1_Missense_Mutation_p.C367S|RAPGEF4_uc010zee.1_Missense_Mutation_p.C385S|RAPGEF4_uc010fqo.2_Missense_Mutation_p.C367S|RAPGEF4_uc010zef.1_Missense_Mutation_p.C318S|RAPGEF4_uc010zeg.1_Missense_Mutation_p.C365S|RAPGEF4_uc010zeh.1_Missense_Mutation_p.C318S	NM_007023	NP_008954	Q8WZA2	RPGF4_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 4 (RAPGEF4), transcript variant 1, mRNA.	538	N-terminal Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			ATGATGCACTGTGTTTTTATG	0.398													C	173866027	G	C	173866027	3	2	104	1	0	0	0	0	1	0	0	0	13134	1377	48	4	1695	4	RAPGEF4	2	173866027	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	38120609	173866027	69333346	9	6971											
GRIP2	80852	broad.mit.edu	37	chr3	14555293	14555293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgatggacaggacacGgtcccccacctgcagcagcc	9	5	11	16	1	0	1	0	1	0	0	1	3	1	3	5	3	3	2	5	3	0	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:14555293G>A	uc021wtn.1	-	14	1807	c.1807C>T	c.(1807-1809)Cgt>Tgt	p.R603C	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	507	PDZ 5.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GACAGGACACGGTCCCCCACC	0.647													A	14555293	G	A	14555293	3	1	104	1	0	0	0	0	1	0	0	0	6843	1116	39	1	1659	1	GRIP2	3	14555293	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		14555293	183467137	10	6972											
SCN5A	6331	broad.mit.edu	37	chr3	38645338	38645338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttttgccatggagggcGtggccaggagccgaggttcc	5	11	15	10	2	1	0	0	0	1	0	2	3	2	2	4	5	2	1	4	5	0	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:38645338G>A	uc021wvo.1	-	10	1807	c.1755C>T	c.(1753-1755)caC>caT	p.H585H	SCN5A_uc021wvk.1_Silent_p.H585H|SCN5A_uc021wvl.1_Silent_p.H585H|SCN5A_uc021wvm.1_Silent_p.H585H|SCN5A_uc021wvn.1_Silent_p.H585H|SCN5A_uc021wvp.1_Silent_p.H585H|SCN5A_uc021wvq.1_Silent_p.H585H|SCN5A_uc021wvr.1_Silent_p.H585H|SCN5A_uc021wvs.1_Silent_p.H585H|SCN5A_uc021wvt.1_Silent_p.H585H|SCN5A_uc021wvu.1_Silent_p.H585H|SCN5A_uc021wvv.1_Silent_p.H585H|SCN5A_uc021wvj.1_Silent_p.H451H|SCN5A_uc021wvi.1_Silent_p.H451H|SCN5A_uc021wvw.1_Silent_p.H196H	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	585					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CATGGAGGGCGTGGCCAGGAG	0.662													A	38645338	G	A	38645338	2	1	104	1	0	0	0	0	0	0	0	1	14015	1136	40	1		1	SCN5A	3	38645338	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	24090045	38645338	159377092	11	6973											
CADPS	8618	broad.mit.edu	37	chr3	62423805	62423805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taacctttctatgtacatctCctcattgaccttatcacgca	10	15	3	13	1	4	1	2	1	2	0	5	1	4	1	3	0	2	2	3	0	4	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:62423805C>T	uc003dll.2	-	27	4111	c.3751G>A	c.(3751-3753)Gag>Aag	p.E1251K	CADPS_uc003dlj.1_Missense_Mutation_p.E206K|CADPS_uc003dlk.1_Missense_Mutation_p.E699K|CADPS_uc003dlm.2_Missense_Mutation_p.E1212K|CADPS_uc003dln.2_Missense_Mutation_p.E1172K|CADPS_uc021wzv.1_Missense_Mutation_p.E1242K	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1251	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ATGTACATCTCCTCATTGACC	0.458													T	62423805	C	T	62423805	3	4	104	1	0	0	0	0	1	0	0	0	2596	864	30	2	322	2	CADPS	3	62423805	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	23778467	62423805	135598625	12	6974											
ADCY5	111	broad.mit.edu	37	chr3	123008753	123008753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgtaggtgctgcCgatggtcttgatcttctcca	6	12	12	11	1	3	1	0	1	3	0	4	2	3	1	3	3	3	3	3	3	1	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr3:123008753C>T	uc003egh.2	-	18	3376	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	ADCY5_uc021xdd.1_Missense_Mutation_p.G776S|ADCY5_uc003egg.2_Missense_Mutation_p.G784S	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	1126	Guanylate cyclase 2.				activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		TAGGTGCTGCCGATGGTCTTG	0.592													T	123008753	C	T	123008753	3	4	104	1	0	0	0	0	1	0	0	0	297	652	23	1	421	1	ADCY5	3	123008753	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	60584948	123008753	75013677	13	6975											
LRPAP1	4043	broad.mit.edu	37	chr4	3534104	3534104	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagtagcagcgccgggagCccgcgcagaaacgacctgac	11	2	14	14	5	0	2	0	1	0	1	0	4	0	3	3	1	5	4	3	1	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:3534104C>G	uc003ghh.4	-	0	121	c.36G>C	c.(34-36)ggG>ggC	p.G12G		NM_002337	NP_002328	P30533	AMRP_HUMAN	Homo sapiens low density lipoprotein receptor-related protein associated protein 1 (LRPAP1), mRNA.	12					negative regulation of protein binding|negative regulation of very-low-density lipoprotein particle clearance|protein folding|vesicle-mediated transport	cell surface|integral to membrane|plasma membrane	asialoglycoprotein receptor activity|heparin binding|low-density lipoprotein particle receptor binding|receptor antagonist activity|unfolded protein binding|very-low-density lipoprotein particle receptor binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.165)		GCGCCGGGAGCCCGCGCAGAA	0.706													G	3534104	C	G	3534104	2	3	104	1	0	0	0	0	0	0	0	1	9034	726	26	4		4	LRPAP1	4	3534104	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		3534104	187620172	14	6976											
OTOP1	133060	broad.mit.edu	37	chr4	4190625	4190625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgaccacaattatccaggGttcaaagccaaagacaatct	15	9	7	10	0	2	2	1	1	1	1	3	2	3	2	3	1	1	2	3	1	5	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:4190625G>T	uc003ghp.1	-	5	1774	c.1744C>A	c.(1744-1746)Ccc>Acc	p.P582T		NM_177998	NP_819056	Q7RTM1	OTOP1_HUMAN	Homo sapiens otopetrin 1 (OTOP1), mRNA.	582					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		ATTATCCAGGGTTCAAAGCCA	0.463													T	4190625	G	T	4190625	3	4	104	1	0	0	0	0	1	0	0	0	11381	1261	44	4	98	4	OTOP1	4	4190625	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	656521	4190625	186963651	15	6977											
ARHGAP10	79658	broad.mit.edu	37	chr4	148944421	148944421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttgttggaagatttttcGgacgccgcccgatactacat	8	13	10	10	4	0	1	0	0	0	1	1	4	0	3	2	2	2	2	2	2	3	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr4:148944421G>A	uc003ilf.3	+	18	1724	c.1724G>A	c.(1723-1725)cGg>cAg	p.R575Q	ARHGAP10_uc003ilg.3_Missense_Mutation_p.R224Q|ARHGAP10_uc003ilh.3_Missense_Mutation_p.R156Q|ARHGAP10_uc003ili.3_Missense_Mutation_p.R8Q	NM_024605	NP_078881	A1A4S6	RHG10_HUMAN	Homo sapiens Rho GTPase activating protein 10 (ARHGAP10), mRNA.	575					apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		AAGATTTTTCGGACGCCGCCC	0.488													A	148944421	G	A	148944421	3	1	104	1	0	0	0	0	1	0	0	0	865	1116	39	1	1798	1	ARHGAP10	4	148944421	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	144753796	148944421	42209855	16	6978											
PIK3R1	5295	broad.mit.edu	37	chr5	67589149	67589151	+	In_Frame_Del	DEL	ATT	ATT	-																															aggaaagggggaaataacaaAttaatcaaaatatttcatcg																										TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:67589149_67589151delATT	uc003jva.3	+	9	1717_1719	c.1137_1139delATT	c.(1135-1140)aaatta>aaa	p.L380del	PIK3R1_uc003jvc.3_In_Frame_Del_p.L80del|PIK3R1_uc003jvd.3_In_Frame_Del_p.L110del|PIK3R1_uc003jve.3_In_Frame_Del_p.L59del|PIK3R1_uc021xzn.1_In_Frame_Del_p.L17del|PIK3R1_uc011crb.2_In_Frame_Del_p.L50del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	380	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L380del(2)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAATA	0.305			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589151	ATT	-	67589149	7	5	104	1	0	1	0	1	0	0	0	0	11995	98	4	0	1301	0	PIK3R1	5	67589149	In_Frame_Del	DEL	ATT	TCGA-06-6695-01A-11D-1845-08		67589149	113326111	17	6979											
PRR16	51334	broad.mit.edu	37	chr5	120021674	120021674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccagattgacaccctgaCctctgacctacagctggagg	10	8	10	13	0	1	5	0	4	1	1	1	6	1	6	4	2	2	1	4	2	1	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:120021674C>A	uc003ksq.3	+	1	348	c.185C>A	c.(184-186)aCc>aAc	p.T62N	PRR16_uc003ksp.3_Missense_Mutation_p.T39N|PRR16_uc003ksr.3_5'UTR	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	62										endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		GACACCCTGACCTCTGACCTA	0.443													A	120021674	C	A	120021674	3	1	104	1	0	0	0	0	1	0	0	0	12675	507	18	4	122	4	PRR16	5	120021674	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	52432525	120021674	60893586	18	6980											
MATR3	9782	broad.mit.edu	37	chr5	138658286	138658286	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtgtccttttgatttcaGaaaaagatcttactctccag	10	15	8	8	0	3	3	1	1	2	2	5	3	4	3	2	1	1	0	2	1	3	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:138658286G>A	uc003ldw.3	+	13	2182	c.1779_splice	c.e13-1	p.R593_splice	MATR3_uc003ldt.3_Splice_Site_p.R255_splice|MATR3_uc003ldu.3_Splice_Site_p.R593_splice|MATR3_uc010jfb.3_Splice_Site_p.R593_splice|MATR3_uc003ldx.3_Splice_Site_p.R593_splice|MATR3_uc003ldy.3_Splice_Site_p.R270_splice|MATR3_uc003ldz.3_Splice_Site_p.R593_splice|MATR3_uc011czb.2_Splice_Site_p.R305_splice|MATR3_uc003leb.3_Splice_Site_p.R255_splice|MATR3_uc003lec.3_Splice_Site_p.R270_splice	NM_018834	NP_954659	P43243	MATR3_HUMAN	Homo sapiens matrin 3 (MATR3), transcript variant 2, mRNA.	593						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TTTGATTTCAGAAAAAGATCT	0.338													A	138658286	G	A	138658286	5	1	104	1	0	0	0	0	0	0	1	0	9412	956	33	2	1820	2	MATR3	5	138658286	Splice_Site	SNP	G	TCGA-06-6695-01A-11D-1845-08	18636612	138658286	42256974	19	6981											
ARSI	340075	broad.mit.edu	37	chr5	149677472	149677472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagtgcccggcttgtccGttgctttcgcttgagcaggg	4	12	13	12	3	1	1	1	1	0	0	3	1	2	1	2	2	3	5	2	2	0	4	rs149628658	byFrequency	TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:149677472G>A	uc003lrv.2	-	1	1604	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W		NM_001012301	NP_001012301	Q5FYB1	ARSI_HUMAN	Homo sapiens arylsulfatase family, member I (ARSI), mRNA.	339						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGCTTGTCCGTTGCTTTCGC	0.627													A	149677472	G	A	149677472	3	1	104	1	0	0	0	0	1	0	0	0	999	1144	40	1	698	1	ARSI	5	149677472	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	11019186	149677472	31237788	20	6982											
FLT4	2324	broad.mit.edu	37	chr5	180041121	180041121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccacacgtcactctgcGtggtgtacaccttgtcgaag	9	9	11	12	3	2	0	1	0	1	0	3	2	2	1	2	2	2	1	2	2	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr5:180041121G>A	uc003mlz.4	-	23	3357	c.3278C>T	c.(3277-3279)aCg>aTg	p.T1093M	FLT4_uc003mma.4_Missense_Mutation_p.T1093M	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	1093	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GTCACTCTGCGTGGTGTACAC	0.622													A	180041121	G	A	180041121	3	1	104	1	0	0	0	0	1	0	0	0	5993	1145	40	1	849	1	FLT4	5	180041121	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	30363649	180041121	874139	21	6983											
DNAH8	1769	broad.mit.edu	37	chr6	38704949	38704949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttgcaacaaacaactgggGtgctttaaaccagtccaagc	13	9	8	11	0	1	0	0	0	1	0	2	0	2	0	2	2	7	2	2	2	6	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:38704949G>T	uc021yzh.1	+	5	978	c.869G>T	c.(868-870)gGt>gTt	p.G290V	DNAH8_uc003ooe.2_Missense_Mutation_p.G73V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAACTGGGGTGCTTTAAAC	0.353													T	38704949	G	T	38704949	3	4	104	1	0	0	0	0	1	0	0	0	4646	1261	44	4	224	4	DNAH8	6	38704949	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		38704949	132410118	22	6984											
PKHD1	5314	broad.mit.edu	37	chr6	51900449	51900449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgacattgatggcacaCgagtaagatccaaataatat	16	9	9	7	2	0	2	0	1	0	1	1	4	1	2	1	1	1	3	1	1	5	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:51900449C>T	uc003pah.1	-	27	3444	c.3168G>A	c.(3166-3168)tcG>tcA	p.S1056S	PKHD1_uc003pai.3_Silent_p.S1056S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1056	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.S1056W(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGATGGCACACGAGTAAGATC	0.453													T	51900449	C	T	51900449	2	4	104	1	0	0	0	0	0	0	0	1	12048	523	19	1		1	PKHD1	6	51900449	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08	13195500	51900449	119214618	23	6985											
KHDRBS2	202559	broad.mit.edu	37	chr6	62604661	62604661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactggaagcgctccaCgggttacagtgcttccccga	7	8	13	13	3	0	0	0	0	0	0	2	2	2	1	3	3	3	4	3	3	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:62604661C>T	uc003peg.2	-	5	936	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	p.T229T(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		AAGCGCTCCACGGGTTACAGT	0.627													T	62604661	C	T	62604661	3	4	104	1	0	0	0	0	1	0	0	0	8205	536	19	1	376	1	KHDRBS2	6	62604661	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	10704212	62604661	108510406	24	6986											
BCKDHB	594	broad.mit.edu	37	chr6	80881059	80881059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtcatgcatagaggatAaaaatccttgtatatttttt	12	19	6	4	0	1	1	1	0	0	1	2	2	2	2	1	1	1	2	1	1	6	10			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:80881059A>G	uc003pjd.2	+	5	761	c.694A>G	c.(694-696)Aaa>Gaa	p.K232E	BCKDHB_uc003pje.2_Missense_Mutation_p.K232E	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	232					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		CATAGAGGATAAAAATCCTTG	0.294													G	80881059	A	G	80881059	3	3	104	1	0	0	0	0	1	0	0	0	1365	363	13	3	716	3	BCKDHB	6	80881059	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	18276398	80881059	90234008	25	6987											
AIM1	202	broad.mit.edu	37	chr6	106999811	106999811	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttttgaggactggggAggcaaaaattgtaagatctc	13	10	12	6	0	1	2	0	1	1	1	2	4	1	4	1	4	0	3	1	4	3	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr6:106999811A>T	uc003prh.3	+	11	5085	c.4173A>T	c.(4171-4173)ggA>ggT	p.G1391G	AIM1_uc003pri.3_Silent_p.G195G	NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	1391	Beta/gamma crystallin 'Greek key' 8.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		AGGACTGGGGAGGCAAAAATT	0.338													T	106999811	A	T	106999811	2	4	104	1	0	0	0	0	0	0	0	1	430	291	11	5		5	AIM1	6	106999811	Silent	SNP	A	TCGA-06-6695-01A-11D-1845-08	26118752	106999811	64115256	26	6988											
SPDYE1	285955	broad.mit.edu	37	chr7	44046879	44046879	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctacctggccaaTgacatggaggaggacgacga	11	6	13	11	2	1	1	1	1	0	0	2	6	2	4	3	4	2	1	3	4	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:44046879T>C	uc003tjf.3	+	4	781	c.645T>C	c.(643-645)aaT>aaC	p.N215N	POLR2J4_uc003tjc.2_Intron|POLR2J4_uc003tjd.3_Intron|POLR2J4_uc010kxw.2_Intron|POLR2J4_uc003tje.4_Intron|AX747182_uc003tjg.1_Non-coding_Transcript	NM_175064	NP_778234	Q8NFV5	SPDE1_HUMAN	Homo sapiens speedy homolog E1 (Xenopus laevis) (SPDYE1), mRNA.	215										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACCTGGCCAATGACATGGAGG	0.567													C	44046879	T	C	44046879	2	2	104	1	0	0	0	0	0	0	0	1	15125	1461	51	3		3	SPDYE1	7	44046879	Silent	SNP	T	TCGA-06-6695-01A-11D-1845-08		44046879	115091784	27	6989											
EGFR	1956	broad.mit.edu	37	chr7	55249017	55249018	+	In_Frame_Ins	INS	-	-	CCACGT																															atggccagcgtggacaacccINSccacgtgtgccgcctgctgg																								rs121913445		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:55249017_55249018insCCACGT	uc003tqk.3	+	19	2561_2562	c.2315_2316insCCACGT	c.(2314-2316)ccc>ccCCACGTc	p.774_775insHV	EGFR_uc022adm.1_In_Frame_Ins_p.774_775insHV|EGFR_uc010kzg.2_In_Frame_Ins_p.729_730insHV|EGFR_uc022adn.1_In_Frame_Ins_p.729_730insHV|EGFR_uc011kco.2_In_Frame_Ins_p.721_722insHV|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.9_10insHV	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(15)|p.P772_H773insPR(11)|p.H773R(9)|p.V774M(5)|p.V774_C775insHV(4)|p.P772_H773insX(4)|p.H773_V774insPH(3)|p.H773_V774insH(3)|p.C775Y(2)|p.P772_H773insYNP(2)|p.P772_H773insV(2)|p.H773L(2)|p.H773Y(2)|p.P772_H773insTHP(2)|p.P772_H773insHV(2)|p.H773>NPY(2)|p.C775R(1)|p.H773_V774insGH(1)|p.H773_V774insG(1)|p.H773_V774insQ(1)|p.H773_V774insGNPH(1)|p.V774del(1)|p.D770_P772>ASVDNR(1)|p.V774L(1)|p.P772_H773insDHP(1)|p.P772_H773insDNP(1)|p.P772_H773insQV(1)|p.N771_P772>SVDNR(1)|p.H773_V774>LM(1)|p.P772P(1)|p.P772R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGGACAACCCCCACGTGTGCC	0.644		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			CCACGT	55249018	-	CCACGT	55249017	7	5	104	1	0	1	1	0	0	0	0	0	5006	623	22	0	2657	0	EGFR	7	55249017	In_Frame_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08	11202138	55249017	103889646	28	6990											
CLDN4	1364	broad.mit.edu	37	chr7	73245947	73245947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgccggtgtcctggaCggcccacaacatcatccaag	10	7	11	13	2	1	0	1	0	0	0	3	2	3	1	4	3	2	0	4	3	3	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:73245947C>T	uc003tzi.4	+	0	755	c.416C>T	c.(415-417)aCg>aTg	p.T139M	CLDN4_uc003tzh.1_Non-coding_Transcript	NM_001305	NP_001296	O14493	CLD4_HUMAN	Homo sapiens claudin 4 (CLDN4), mRNA.	139					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GTGTCCTGGACGGCCCACAAC	0.632													T	73245947	C	T	73245947	3	4	104	1	0	0	0	0	1	0	0	0	3518	536	19	1	418	1	CLDN4	7	73245947	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	17996930	73245947	85892716	29	6991											
SAMD9	54809	broad.mit.edu	37	chr7	92733004	92733004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatagacattatcttgttCttcaaaatcatcaacaagga	17	12	5	7	0	5	2	3	0	2	2	5	3	5	3	0	1	1	1	0	1	7	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:92733004C>T	uc003umf.3	-	2	2677	c.2407G>A	c.(2407-2409)Gaa>Aaa	p.E803K	SAMD9_uc003umg.3_Missense_Mutation_p.E803K|SAMD9_uc022ahg.1_Missense_Mutation_p.E803K	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	803						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTATCTTGTTCTTCAAAATCA	0.353													T	92733004	C	T	92733004	3	4	104	1	0	0	0	0	1	0	0	0	13917	922	32	2	2366	2	SAMD9	7	92733004	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	19487057	92733004	66405659	30	6992											
GIMAP4	55303	broad.mit.edu	37	chr7	150269429	150269429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgacacaccaggcattttcGacacagaggtgcccaatgct	11	9	9	12	1	0	2	0	1	0	1	1	3	0	2	2	2	2	2	2	2	1	3	rs137872040		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr7:150269429G>A	uc003whl.3	+	2	353	c.271G>A	c.(271-273)Gac>Aac	p.D91N	GIMAP4_uc011kuu.2_Intron|GIMAP4_uc011kuv.2_Missense_Mutation_p.D105N	NM_018326	NP_060796	Q9NUV9	GIMA4_HUMAN	Homo sapiens GTPase, IMAP family member 4 (GIMAP4), mRNA.	91							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCATTTTCGACACAGAGGT	0.507													A	150269429	G	A	150269429	3	1	104	1	0	0	0	0	1	0	0	0	6437	1058	37	1	277	1	GIMAP4	7	150269429	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	57536425	150269429	8869234	31	6993											
EPPK1	83481	broad.mit.edu	37	chr8	144940800	144940800	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcctccatgagctcttGcgtcgtgctccgtcccgttt	2	14	10	15	5	1	1	0	1	1	0	7	1	5	1	4	0	3	3	4	0	0	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr8:144940800G>C	uc003zaa.1	-	0	6635	c.6622C>G	c.(6622-6624)Caa>Gaa	p.Q2208E		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2208						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGAGCTCTTGCGTCGTGCTC	0.622													C	144940800	G	C	144940800	3	2	104	1	0	0	0	0	1	0	0	0	5231	1328	46	4	644	4	EPPK1	8	144940800	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		144940800	1423222	32	6994											
FAM75C1	441452	broad.mit.edu	37	chr9	90536103	90536103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtccaaaaatctcaggaCgtctttagtgtctccactcc	10	11	8	12	1	3	0	1	0	3	0	7	1	5	1	3	2	0	0	3	2	3	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:90536103C>T	uc010mqi.3	+	3	1310	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	FAM75C1_uc004apq.4_Silent_p.D410D	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		AATCTCAGGACGTCTTTAGTG	0.493													T	90536103	C	T	90536103	2	4	104	1	0	0	0	0	0	0	0	1	5673	535	19	1		1	FAM75C1	9	90536103	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		90536103	50677328	33	6995											
GFI1B	8328	broad.mit.edu	37	chr9	135866288	135866288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaagtgccaggtgtgcGgaaaggccttcagccagagc	10	5	14	12	2	1	1	1	0	0	1	1	2	1	2	3	3	4	1	3	3	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr9:135866288G>A	uc004ccg.3	+	6	1199	c.844G>A	c.(844-846)Gga>Aga	p.G282R	GFI1B_uc010mzy.3_Missense_Mutation_p.G236R	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	282	Interaction with ARIH2.|Mediates interaction with GATA1.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		CCAGGTGTGCGGAAAGGCCTT	0.647													A	135866288	G	A	135866288	3	1	104	1	0	0	0	0	1	0	0	0	6396	1117	39	1	866	1	GFI1B	9	135866288	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	45330185	135866288	5347143	34	6996											
ADARB2	105	broad.mit.edu	37	chr10	1284235	1284235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagaggaagtgcaggaaCgcccgccgggccacgacctc	9	4	15	13	4	0	1	0	0	0	1	1	4	0	3	4	3	2	2	4	3	3	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:1284235C>T	uc009xhq.3	-	4	1646	c.1320G>A	c.(1318-1320)gcG>gcA	p.A440A		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	440	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		AGTGCAGGAACGCCCGCCGGG	0.706													T	1284235	C	T	1284235	2	4	104	1	0	0	0	0	0	0	0	1	283	523	19	1		1	ADARB2	10	1284235	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		1284235	134250512	35	6997											
C10orf71	118461	broad.mit.edu	37	chr10	50530623	50530623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataagaagtgcacagacgcGttcagcgactcctccagcat	13	7	9	12	3	1	2	1	0	0	2	3	3	3	2	2	0	3	3	2	0	3	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:50530623G>A	uc021pqb.1	+	0	33	c.33G>A	c.(31-33)gcG>gcA	p.A11A	C10orf71_uc021pqa.1_Silent_p.A10A|C10orf71_uc021pqc.1_Silent_p.A11A	NM_001135196	NP_001128668	Q711Q0	CJ071_HUMAN	Homo sapiens chromosome 10 open reading frame 71 (C10orf71), transcript variant 1, mRNA.	11								p.A11A(2)		endometrium(1)	1						GCACAGACGCGTTCAGCGACT	0.542													A	50530623	G	A	50530623	2	1	104	1	0	0	0	0	0	0	0	1	1625	1132	40	1		1	C10orf71	10	50530623	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	49246388	50530623	85004124	36	6998											
ANK3	288	broad.mit.edu	37	chr10	62149275	62149275	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaatccctgtttttctttaAttgtgaggctgcatgagcca	9	16	8	8	0	1	2	0	2	1	0	2	2	2	2	2	1	2	3	2	1	3	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:62149275A>C	uc001jky.3	-	0	360	c.22T>G	c.(22-24)Tta>Gta	p.L8V	ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jlb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	8					establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTTCTTTAATTGTGAGGCT	0.423													C	62149275	A	C	62149275	3	2	104	1	0	0	0	0	1	0	0	0	622	98	4	5	13616	5	ANK3	10	62149275	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	11618652	62149275	73385472	37	6999											
ECHS1	1892	broad.mit.edu	37	chr10	135183513	135183513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaaactcaggttctgCatttccttgatatcagctcc	8	14	7	12	0	3	1	2	1	1	0	6	2	6	2	3	2	3	3	3	2	2	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr10:135183513C>T	uc001lmu.3	-	2	380	c.309G>A	c.(307-309)atG>atA	p.M103I		NM_004092	NP_004083	P30084	ECHM_HUMAN	Homo sapiens enoyl CoA hydratase, short chain, 1, mitochondrial (ECHS1), nuclear gene encoding mitochondrial protein, mRNA.	103					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCAGGTTCTGCATTTCCTTGA	0.517													T	135183513	C	T	135183513	3	4	104	1	0	0	0	0	1	0	0	0	4935	710	25	2	587	2	ECHS1	10	135183513	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	73034238	135183513	351234	38	7000											
KBTBD4	55709	broad.mit.edu	37	chr11	47594600	47594600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctttttatatcggtccCggaagacatagatgctcccg	8	11	8	14	3	0	2	0	0	0	2	3	3	2	3	4	2	1	1	4	2	4	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:47594600C>G	uc001nfx.3	-	3	1610	c.1439G>C	c.(1438-1440)cGg>cCg	p.R480P	PTPMT1_uc001nfs.4_3'UTR|PTPMT1_uc001nfv.4_3'UTR|PTPMT1_uc009ylt.3_3'UTR|PTPMT1_uc001nfu.4_3'UTR|NDUFS3_uc001nft.3_Intron|KBTBD4_uc001nfw.2_Missense_Mutation_p.R505P|KBTBD4_uc001nfz.3_Missense_Mutation_p.R496P|KBTBD4_uc001nfy.3_Missense_Mutation_p.R480P	NM_016506	NP_057590	Q9NVX7	KBTB4_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 4 (KBTBD4), transcript variant 2, mRNA.	480										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ATATCGGTCCCGGAAGACATA	0.527													G	47594600	C	G	47594600	3	3	104	1	0	0	0	0	1	0	0	0	8053	652	23	4	121	4	KBTBD4	11	47594600	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		47594600	87411916	39	7001											
OR5AR1	219493	broad.mit.edu	37	chr11	56432005	56432005	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttctacacggttatcAtccccatgttaaatcccttg	8	15	6	12	1	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	4	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:56432005A>G	uc010rjm.2	+	0	844	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						CACGGTTATCATCCCCATGTT	0.423													G	56432005	A	G	56432005	3	3	104	1	0	0	0	0	1	0	0	0	11221	217	8	3	846	3	OR5AR1	11	56432005	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	8837405	56432005	78574511	40	7002											
PRSS23	11098	broad.mit.edu	37	chr11	86519032	86519032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagatggggcccaacaccGagactcagggtcttcaggaa	11	6	14	10	1	3	2	2	0	1	2	3	5	3	3	2	5	1	0	2	5	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:86519032G>A	uc021qok.1	+	0	347	c.347G>A	c.(346-348)cGa>cAa	p.R116Q	PRSS23_uc001pcc.1_Intron|PRSS23_uc010rts.1_Missense_Mutation_p.R84Q|PRSS23_uc001pcb.3_Missense_Mutation_p.R116Q	NM_007173	NP_009104	O95084	PRS23_HUMAN	Homo sapiens protease, serine, 23 (PRSS23), mRNA.	116					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCCCAACACCGAGACTCAGGG	0.517													A	86519032	G	A	86519032	3	1	104	1	0	0	0	0	1	0	0	0	12705	1058	37	1	349	1	PRSS23	11	86519032	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	30087027	86519032	48487484	41	7003											
PVRL1	5818	broad.mit.edu	37	chr11	119510587	119510587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcacccggccccatccGtctccggtgggctcttctgc	2	10	11	18	3	4	0	1	0	3	0	6	0	5	0	5	4	1	2	5	4	0	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:119510587G>A	uc001pwu.1	-	5	1311	c.1139C>T	c.(1138-1140)aCg>aTg	p.T380M		NM_203285	NP_976030	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 2, mRNA.	0					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GGCCCCATCCGTCTCCGGTGG	0.622													A	119510587	G	A	119510587	3	1	104	1	0	0	0	0	1	0	0	0	12927	1145	40	1	249	1	PVRL1	11	119510587	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	32991555	119510587	15495929	42	7004											
KIRREL3	84623	broad.mit.edu	37	chr11	126343282	126343282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcttggcattgtctgcGtggcaggtgaggttgagagg	6	10	19	6	1	1	2	0	2	1	1	1	3	1	2	0	6	1	5	0	6	0	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr11:126343282G>A	uc001qea.3	-	4	874	c.513C>T	c.(511-513)caC>caT	p.H171H	KIRREL3_uc001qeb.3_Silent_p.H171H|KIRREL3_uc001qec.1_Silent_p.H171H	NM_032531	NP_115920	Q8IZU9	KIRR3_HUMAN	Homo sapiens kin of IRRE like 3 (Drosophila) (KIRREL3), transcript variant 1, mRNA.	171	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CATTGTCTGCGTGGCAGGTGA	0.642													A	126343282	G	A	126343282	2	1	104	1	0	0	0	0	0	0	0	1	8384	1136	40	1		1	KIRREL3	11	126343282	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	6832695	126343282	8663234	43	7005											
A2M	2	broad.mit.edu	37	chr12	9230302	9230302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaatgattcacctttaTggcattgttgagcagtgacc	10	13	9	9	0	1	4	1	3	0	1	2	4	2	4	3	1	1	3	3	1	2	5			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9230302T>C	uc001qvk.1	-	25	3384	c.3271A>G	c.(3271-3273)Ata>Gta	p.I1091V	A2M_uc009zgk.1_Missense_Mutation_p.I941V	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1091					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TTCACCTTTATGGCATTGTTG	0.443													C	9230302	T	C	9230302	3	2	104	1	0	0	0	0	1	0	0	0	4	1464	51	3	1197	3	A2M	12	9230302	Missense_Mutation	SNP	T	TCGA-06-6695-01A-11D-1845-08		9230302	124621593	44	7006											
PZP	5858	broad.mit.edu	37	chr12	9345184	9345184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgccgtgatagtctccGtgtggccacagggcagggta	7	9	16	9	2	1	1	0	1	1	0	2	1	1	1	3	3	1	2	3	3	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:9345184G>A	uc001qvl.3	-	11	1435	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PZP_uc009zgl.3_Missense_Mutation_p.T338M	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.									p.T469M(2)|p.T338M(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GATAGTCTCCGTGTGGCCACA	0.512													A	9345184	G	A	9345184	3	1	104	1	0	0	0	0	1	0	0	0	12957	1145	40	1	3142	1	PZP	12	9345184	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	114882	9345184	124506711	45	7007											
KLRC1	3821	broad.mit.edu	37	chr12	10600149	10600149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcatgtttgaaagccaaaCcattcattgtcacccatgga	13	11	6	11	0	3	1	3	1	0	0	3	2	3	2	3	1	2	1	3	1	2	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:10600149C>T	uc001qyl.3	-	5	786	c.572G>A	c.(571-573)gGt>gAt	p.G191D	KLRC1_uc009zhm.2_Missense_Mutation_p.G191D|KLRC1_uc001qym.3_Missense_Mutation_p.G173D|KLRC1_uc001qyn.3_Missense_Mutation_p.G191D|KLRC1_uc001qyo.3_Missense_Mutation_p.G173D	NM_002259	NP_998823	P26715	NKG2A_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 1 (KLRC1), transcript variant 1, mRNA.	191	C-type lectin.				cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						GAAAGCCAAACCATTCATTGT	0.323													T	10600149	C	T	10600149	3	4	104	1	0	0	0	0	1	0	0	0	8473	507	18	2	137	2	KLRC1	12	10600149	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	1254965	10600149	123251746	46	7008											
LRRK2	120892	broad.mit.edu	37	chr12	40715936	40715936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggatctgaagtcttagacaAtcatccagagagtttcttaa	14	12	8	7	0	4	3	1	1	3	2	5	5	5	4	1	1	0	1	1	1	4	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:40715936A>G	uc001rmg.4	+	35	5391	c.5270A>G	c.(5269-5271)aAt>aGt	p.N1757S	LRRK2_uc009zjw.3_Missense_Mutation_p.N595S|LRRK2_uc001rmi.3_Missense_Mutation_p.N590S	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	1757					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTCTTAGACAATCATCCAGAG	0.353													G	40715936	A	G	40715936	3	3	104	1	0	0	0	0	1	0	0	0	9103	101	4	3	5412	3	LRRK2	12	40715936	Missense_Mutation	SNP	A	TCGA-06-6695-01A-11D-1845-08	30115787	40715936	93135959	47	7009											
COL2A1	1280	broad.mit.edu	37	chr12	48372465	48372465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcaccagctcggccagggGggccgctgtctcctcgagca	5	7	14	15	3	2	0	1	0	1	0	5	1	2	0	4	4	2	4	4	4	0	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:48372465G>A	uc001rqu.3	-	41	2991	c.2810C>T	c.(2809-2811)cCc>cTc	p.P937L	COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Missense_Mutation_p.P868L	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	937	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCGGCCAGGGGGGCCGCTGTC	0.632													A	48372465	G	A	48372465	3	1	104	1	0	0	0	0	1	0	0	0	3718	1232	43	2	1705	2	COL2A1	12	48372465	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	7656529	48372465	85479430	48	7010											
WNT1	7471	broad.mit.edu	37	chr12	49374347	49374348	+	Frame_Shift_Ins	INS	-	-	G																															cgggggccccgactggcactINSgggggggctgcagcgacaac																										TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:49374347_49374348insG	uc001rsu.3	+	2	697_698	c.499_500insG	c.(499-501)tggfs	p.W167fs		NM_005430	NP_005421	P04628	WNT1_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 1 (WNT1), mRNA.	167					brain segmentation|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|central nervous system morphogenesis|cerebellum formation|dermatome development|diencephalon development|embryonic axis specification|forebrain anterior/posterior pattern formation|fourth ventricle development|hemopoietic stem cell proliferation|hepatocyte differentiation|inner ear morphogenesis|mesoderm morphogenesis|midbrain development|midbrain-hindbrain boundary maturation during brain development|negative regulation of cell-cell adhesion|negative regulation of cell-substrate adhesion|negative regulation of DNA damage checkpoint|negative regulation of fat cell differentiation|neuron fate determination|positive regulation of fibroblast proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of lamellipodium assembly|positive regulation of Notch signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to wounding|signal transduction in response to DNA damage|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled-2 binding|transcription regulatory region DNA binding	p.G169fs*30(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(357;0.244)		cgACTGGCACTGGGGGGGCTGC	0.683													G	49374348	-	G	49374347	7	5	104	1	0	1	1	0	0	0	0	0	17483	1580	55	0	509	0	WNT1	12	49374347	Frame_Shift_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08	1001882	49374347	84477548	49	7011											
PA2G4	5036	broad.mit.edu	37	chr12	56505022	56505022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcccaatggccccatgCggataaccagtggtcccttc	8	9	9	15	1	1	0	1	0	0	0	3	1	2	1	5	3	3	0	5	3	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:56505022C>T	uc001sjm.3	+	10	1413	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W		NM_006191	NP_006182	Q9UQ80	PA2G4_HUMAN	Homo sapiens proliferation-associated 2G4, 38kDa (PA2G4), mRNA.	332	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGCCCCATGCGGATAACCAG	0.438													T	56505022	C	T	56505022	3	4	104	1	0	0	0	0	1	0	0	0	11437	759	27	1	1036	1	PA2G4	12	56505022	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	7130675	56505022	77346873	50	7012											
GRIP1	23426	broad.mit.edu	37	chr12	66788078	66788078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtgatgccaaggggccccCcgtagcgtttaagctccacg	7	9	12	13	3	0	1	0	1	0	0	1	1	1	1	5	2	3	3	5	2	3	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr12:66788078C>T	uc001stk.3	-	15	2124	c.1883G>A	c.(1882-1884)gGg>gAg	p.G628E	GRIP1_uc010sta.1_Missense_Mutation_p.G572E|GRIP1_uc001stj.3_Missense_Mutation_p.G410E|GRIP1_uc001stm.3_Missense_Mutation_p.G628E|GRIP1_uc001stl.1_Missense_Mutation_p.G520E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	680	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		AAGGGGCCCCCCGTAGCGTTT	0.413													T	66788078	C	T	66788078	3	4	104	1	0	0	0	0	1	0	0	0	6842	623	22	2	1383	2	GRIP1	12	66788078	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	10283056	66788078	67063817	51	7013											
COL4A1	1282	broad.mit.edu	37	chr13	110819539	110819539	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggaggccccatatcAcccttagagcctgtgattcc	8	10	8	15	0	1	2	1	1	0	1	3	3	3	3	6	2	1	0	6	2	2	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr13:110819539A>C	uc001vqw.4	-	43	4037	c.3915T>G	c.(3913-3915)ggT>ggG	p.G1305G		NM_001845	NP_001836	P02462	CO4A1_HUMAN	Homo sapiens collagen, type IV, alpha 1 (COL4A1), mRNA.	1305	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding	p.K1304K(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GCCCCATATCACCCTTAGAGC	0.507													C	110819539	A	C	110819539	2	2	104	1	0	0	0	0	0	0	0	1	3720	146	6	5		5	COL4A1	13	110819539	Silent	SNP	A	TCGA-06-6695-01A-11D-1845-08		110819539	4350339	52	7014											
AHNAK2	113146	broad.mit.edu	37	chr14	105409917	105409917	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgtcatgtccttgtcGgccagggacaggtccccctc	4	10	12	15	2	1	0	1	0	0	0	5	1	3	1	5	4	0	0	5	4	0	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr14:105409917G>A	uc010axc.1	-	6	11991	c.11871C>T	c.(11869-11871)gcC>gcT	p.A3957A	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A3857A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3957						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCCTTGTCGGCCAGGGACA	0.622													A	105409917	G	A	105409917	2	1	104	1	0	0	0	0	0	0	0	1	415	1103	39	1		1	AHNAK2	14	105409917	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08		105409917	1939623	53	7015											
LRRK1	79705	broad.mit.edu	37	chr15	101464858	101464859	+	Frame_Shift_Ins	INS	-	-	C																															tggctggcatgtcgcaaagaINSccccccagcatgtactggtg																										TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr15:101464858_101464859insC	uc002bwr.3	+	1	340_341	c.21_22insC	c.(19-24)agacccfs	p.R7fs	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Frame_Shift_Ins_p.R7fs	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	7					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCGCAAAGACCCCCCAGCAT	0.594													C	101464859	-	C	101464858	7	5	104	1	0	1	1	0	0	0	0	0	9102	272	10	0	23	0	LRRK1	15	101464858	Frame_Shift_Ins	INS	-	TCGA-06-6695-01A-11D-1845-08		101464858	1066534	54	7016											
AXIN1	8312	broad.mit.edu	37	chr16	347056	347056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcgtgcggggtgctcacCcgtggccggtcctgcggtgc	1	8	18	14	5	1	0	1	0	0	0	2	0	2	0	3	5	5	2	3	5	0	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:347056C>G	uc002cgp.2	-	7	2344	c.1955_splice	c.e7+1	p.G652_splice	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Splice_Site_p.G652_splice	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	652	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GGGTGCTCACCCGTGGCCGGT	0.627													G	347056	C	G	347056	3	3	104	1	0	0	0	0	1	0	0	0	1241	637	22	4	653	4	AXIN1	16	347056	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		347056	90007697	55	7017											
ERCC4	2072	broad.mit.edu	37	chr16	14041971	14041971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagattctgaaacccttcccGagtcagagaagtataatcct	13	10	7	11	1	2	3	1	1	1	2	4	5	4	3	3	0	1	1	3	0	4	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:14041971G>A	uc002dce.2	+	10	2527	c.2518G>A	c.(2518-2520)Gag>Aag	p.E840K	ERCC4_uc010uyz.1_Missense_Mutation_p.E390K	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	840	Interaction with EME1 and ERCC1.				double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCCTTCCCGAGTCAGAGAA	0.498			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14041971	G	A	14041971	3	1	104	1	0	0	0	0	1	0	0	0	5256	1059	37	1	2560	1	ERCC4	16	14041971	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	13694915	14041971	76312782	56	7018											
PLCG2	5336	broad.mit.edu	37	chr16	81953271	81953271	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggagcgctacaatatggTaggtggtggactcccttgtg	7	11	14	9	1	0	0	0	0	0	0	1	2	1	2	2	5	2	2	2	5	4	4			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:81953271T>A	uc002fgt.3	+	20	2413	c.2235_splice	c.e20+2	p.M745_splice	PLCG2_uc010chg.1_Splice_Site_p.M745_splice	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	745				M -> T (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TACAATATGGTAGGTGGTGGA	0.493													A	81953271	T	A	81953271	5	1	104	1	0	0	0	0	0	0	1	0	12113	1652	57	5	2311	5	PLCG2	16	81953271	Splice_Site	SNP	T	TCGA-06-6695-01A-11D-1845-08	67911300	81953271	8401482	57	7019											
ANKRD11	29123	broad.mit.edu	37	chr16	89347130	89347130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcctcggtgatgacggcGctgaagggaccctcgtccag	6	7	15	13	4	0	3	0	3	0	0	4	4	2	4	3	4	0	2	3	4	1	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr16:89347130G>A	uc002fmx.1	-	8	6281	c.5820C>T	c.(5818-5820)agC>agT	p.S1940S	ANKRD11_uc002fmy.1_Silent_p.S1940S|ANKRD11_uc002fnc.1_Silent_p.S1940S|ANKRD11_uc002fna.1_5'Flank|ANKRD11_uc002fnb.1_Silent_p.S1897S	NM_013275	NP_037407	Q6UB99	ANR11_HUMAN	Homo sapiens ankyrin repeat domain 11 (ANKRD11), transcript variant 2, mRNA.	1940	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGATGACGGCGCTGAAGGGAC	0.692													A	89347130	G	A	89347130	2	1	104	1	0	0	0	0	0	0	0	1	639	1078	38	1		1	ANKRD11	16	89347130	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	7393859	89347130	1007623	58	7020											
OR3A2	4995	broad.mit.edu	37	chr17	3181517	3181517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttcggccctccactgaaCggattcgtagaactgcagct	8	11	9	13	3	1	2	0	1	1	1	4	3	2	3	2	2	4	3	2	2	3	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr17:3181517C>T	uc002fvg.3	-	0	752	c.713G>A	c.(712-714)cGt>cAt	p.R238H		NM_002551	NP_002542	P47893	OR3A2_HUMAN	Homo sapiens olfactory receptor, family 3, subfamily A, member 2 (OR3A2), mRNA.	238					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CTCCACTGAACGGATTCGTAG	0.527													T	3181517	C	T	3181517	3	4	104	1	0	0	0	0	1	0	0	0	11114	536	19	1	256	1	OR3A2	17	3181517	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		3181517	78013693	59	7021											
C19orf35	374872	broad.mit.edu	37	chr19	2278840	2278840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagaggcccagtggggCgtcagccgggccaaaggtca	9	3	19	10	2	2	1	2	0	0	1	2	3	2	1	3	6	1	0	3	6	1	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:2278840C>T	uc002lvn.2	-	2	455	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	119										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CCCAGTGGGGCGTCAGCCGGG	0.677													T	2278840	C	T	2278840	3	4	104	1	0	0	0	0	1	0	0	0	1939	768	27	1	1074	1	C19orf35	19	2278840	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		2278840	56850143	60	7022											
TNFSF9	8744	broad.mit.edu	37	chr19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagcttacccagggcGccacagtcttgggactcttc	6	9	11	15	1	2	0	0	0	2	0	3	1	2	1	3	3	2	2	3	3	1	3			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:6535006G>A	uc002mfh.2	+	2	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	232					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662													A	6535006	G	A	6535006	3	1	104	1	0	0	0	0	1	0	0	0	16412	1087	38	1	704	1	TNFSF9	19	6535006	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	4256166	6535006	52593977	61	7023											
TNPO2	30000	broad.mit.edu	37	chr19	12813636	12813636	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccgggccaggtgcccaCctgtgttttccagcagtgtc	5	9	13	14	1	0	0	0	0	0	0	2	0	1	0	5	2	3	3	5	2	0	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:12813636C>T	uc002mup.3	-	19	3043	c.2581_splice	c.e19+1	p.A861_splice	TNPO2_uc002muq.3_Splice_Site_p.A769_splice|TNPO2_uc002muo.3_Splice_Site_p.G769_splice|TNPO2_uc002mur.3_Splice_Site_p.A769_splice	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	779					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTGCCCACCTGTGTTTTC	0.582													T	12813636	C	T	12813636	5	4	104	1	0	0	0	0	0	0	1	0	16436	521	18	2	407	2	TNPO2	19	12813636	Splice_Site	SNP	C	TCGA-06-6695-01A-11D-1845-08	6278630	12813636	46315347	62	7024											
KIR3DL2	3811	broad.mit.edu	37	chr19	55327961	55327961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaccggcagcaccatgtcGctcatggtcgtcagcatggc	7	8	12	14	3	2	0	2	0	0	0	4	0	2	0	2	3	3	5	2	3	0	0			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr19:55327961G>A	uc002qhl.4	+	0	69	c.6G>A	c.(4-6)tcG>tcA	p.S2S	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Intron|KIR3DL2_uc010esf.3_Silent_p.S2S|KIR3DL2_uc021vbo.1_Silent_p.S2S|KIR3DL2_uc002qhk.4_Silent_p.S2S			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	2					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		GCACCATGTCGCTCATGGTCG	0.597											OREG0003676	type=REGULATORY REGION|Gene=KIR3DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	55327961	G	A	55327961	2	1	104	1	0	0	0	0	0	0	0	1	8379	1074	38	1		1	KIR3DL2	19	55327961	Silent	SNP	G	TCGA-06-6695-01A-11D-1845-08	42514325	55327961	3801022	63	7025											
HCK	3055	broad.mit.edu	37	chr20	30674579	30674579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggtcaccaaggagccCatctacatcatcacggagtt	10	8	11	12	2	4	0	3	0	1	0	4	2	4	2	2	4	2	1	2	4	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr20:30674579C>T	uc002wxh.3	+	8	1221	c.984C>T	c.(982-984)ccC>ccT	p.P328P	HCK_uc010gdy.3_Silent_p.P308P|HCK_uc021wbv.1_Silent_p.P307P|HCK_uc002wxi.3_Silent_p.P306P	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	328	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CCAAGGAGCCCATCTACATCA	0.587													T	30674579	C	T	30674579	2	4	104	1	0	0	0	0	0	0	0	1	7049	581	21	2		2	HCK	20	30674579	Silent	SNP	C	TCGA-06-6695-01A-11D-1845-08		30674579	32350941	64	7026											
DUSP18	150290	broad.mit.edu	37	chr22	31059768	31059768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcacagagacgtgagttagGggagtcagccacaggtacct	11	7	14	9	1	2	2	2	1	0	1	2	4	2	3	2	3	2	2	2	3	2	2			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:31059768G>A	uc003aiu.3	-	1	724	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SLC35E4_uc003ait.3_Intron|DUSP18_uc010gwa.2_Intron|DUSP18_uc003aiw.1_Missense_Mutation_p.P75S|DUSP18_uc021wnv.1_Missense_Mutation_p.P75S	NM_152511	NP_689724	Q8NEJ0	DUS18_HUMAN	Homo sapiens dual specificity phosphatase 18 (DUSP18), mRNA.	75						cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			large_intestine(1)|lung(1)|prostate(1)|skin(1)	4						CGTGAGTTAGGGGAGTCAGCC	0.507													A	31059768	G	A	31059768	3	1	104	1	0	0	0	0	1	0	0	0	4856	1232	43	2	347	2	DUSP18	22	31059768	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08		31059768	20244798	65	7027											
CYP2D6	1565	broad.mit.edu	37	chr22	42525154	42525154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagaagcgcctctgctcgCgccacgcgggcccatagcgc	6	4	14	17	7	1	1	0	0	1	1	2	2	1	1	3	2	3	1	3	2	2	1			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:42525154C>T	uc003bce.3	-	2	476	c.386G>A	c.(385-387)cGc>cAc	p.R129H	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_Intron|CYP2D6_uc003bcf.3_Intron	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	129							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTCTGCTCGCGCCACGCGGG	0.687													T	42525154	C	T	42525154	3	4	104	1	0	0	0	0	1	0	0	0	4202	768	27	1	1135	1	CYP2D6	22	42525154	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08	11465386	42525154	8779412	66	7028											
MOV10L1	54456	broad.mit.edu	37	chr22	50581577	50581577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctgagtggtgactgccGtcccctcccgtatattctct	5	14	9	13	2	2	2	0	2	2	0	5	3	4	2	4	1	1	1	4	1	2	4	rs140536899		TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chr22:50581577G>A	uc003bjj.3	+	16	2368	c.2285G>A	c.(2284-2286)cGt>cAt	p.R762H	MOV10L1_uc003bjk.4_Missense_Mutation_p.R762H|MOV10L1_uc011arp.2_Missense_Mutation_p.R742H|MOV10L1_uc011arq.1_Missense_Mutation_p.R523H	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	762					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGTGACTGCCGTCCCCTCCCG	0.468													A	50581577	G	A	50581577	3	1	104	1	0	0	0	0	1	0	0	0	9795	1145	40	1	2392	1	MOV10L1	22	50581577	Missense_Mutation	SNP	G	TCGA-06-6695-01A-11D-1845-08	8056423	50581577	722989	67	7029											
IL13RA2	3598	broad.mit.edu	37	chrX	114249014	114249014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatccaataagtagtttctgCccaggaactttgaacttctg	11	14	7	9	0	2	1	0	1	2	0	3	2	3	2	2	1	3	2	2	1	6	6			TCGA-06-6695-01A-11D-1845-08	TCGA-06-6695-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13817acd-8c1e-4154-8b88-7cdc5f2660a7	360150fc-e84a-423e-bfdb-fa9b487758e3	g.chrX:114249014C>T	uc004epx.3	-	3	495	c.370G>A	c.(370-372)Gca>Aca	p.A124T	IL13RA2_uc010nqd.1_Missense_Mutation_p.A124T|IL13RA2_uc022cdb.1_Missense_Mutation_p.A124T	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	124	Fibronectin type-III 1.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						GTAGTTTCTGCCCAGGAACTT	0.363													T	114249014	C	T	114249014	3	4	104	1	0	0	0	0	1	0	0	0	7688	739	26	2	800	2	IL13RA2	23	114249014	Missense_Mutation	SNP	C	TCGA-06-6695-01A-11D-1845-08		114249014	41021546	68	7030											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919080	12919080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtatcgctgatgaagacGcttcatctggagccattgaa	10	11	11	9	2	2	4	1	3	1	1	3	5	2	5	1	2	1	3	1	2	3	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:12919080G>A	uc001aum.1	+	1	303	c.216G>A	c.(214-216)acG>acA	p.T72T		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	72			T -> R (in dbSNP:rs9659529).							breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGACGCTTCATCTGG	0.552													A	12919080	G	A	12919080	2	1	105	1	0	0	0	0	0	0	0	1	12518	1074	38	1		1	PRAMEF2	1	12919080	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		12919080	236331541	1	7031											
SPEN	23013	broad.mit.edu	37	chr1	16199442	16199442	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtcaacaaaatgggtgacaGagacctacgcacggattata	15	7	11	8	2	1	2	1	1	0	1	1	4	1	3	1	3	2	1	1	3	6	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:16199442G>C	uc001axk.1	+	1	419	c.215G>C	c.(214-216)aGa>aCa	p.R72T	SPEN_uc010obp.1_5'Flank	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	72	RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATGGGTGACAGAGACCTACGC	0.493													C	16199442	G	C	16199442	3	2	105	1	0	0	0	0	1	0	0	0	15134	942	33	4	221	4	SPEN	1	16199442	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	3280362	16199442	233051179	2	7032											
TCEA3	6920	broad.mit.edu	37	chr1	23720438	23720438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacgttccgccgcaggccGgggttcctggggtccttgag	4	8	16	13	4	0	1	0	1	0	0	3	1	3	1	5	5	1	4	5	5	0	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:23720438G>A	uc021oig.1	-	7	888	c.753C>T	c.(751-753)ccC>ccT	p.P251P	TCEA3_uc009vqm.2_Silent_p.P20P	NM_003196	NP_003187	O75764	TCEA3_HUMAN	Homo sapiens transcription elongation factor A (SII), 3 (TCEA3), mRNA.	251	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	nucleus	DNA binding|translation elongation factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;4.16e-05)|all_lung(284;6.68e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.0054)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.6e-25)|Colorectal(126;8.32e-08)|COAD - Colon adenocarcinoma(152;4.29e-06)|GBM - Glioblastoma multiforme(114;9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00424)|STAD - Stomach adenocarcinoma(196;0.0145)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0963)|LUSC - Lung squamous cell carcinoma(448;0.198)		GCCGCAGGCCGGGGTTCCTGG	0.597													A	23720438	G	A	23720438	2	1	105	1	0	0	0	0	0	0	0	1	15769	1103	39	1		1	TCEA3	1	23720438	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	7520996	23720438	225530183	3	7033											
MPL	4352	broad.mit.edu	37	chr1	43817970	43817970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggacactgcagccctgaGcccggtgagtgtgcttccct	6	9	13	13	1	0	2	0	2	0	0	1	3	1	3	3	2	4	2	3	2	1	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:43817970G>A	uc001ciw.3	+	10	1694	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N	MPL_uc009vwr.3_Missense_Mutation_p.S543N	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	550					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCAGCCCTGAGCCCGGTGAGT	0.607			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43817970	G	A	43817970	3	1	105	1	0	0	0	0	1	0	0	0	9806	971	34	2	1691	2	MPL	1	43817970	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	20097532	43817970	205432651	4	7034											
DAB1	1600	broad.mit.edu	37	chr1	57480758	57480758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatctggaaatccttaaaCgtttctttgcccattttctg	8	16	6	11	1	3	0	0	0	3	0	4	1	4	1	3	1	2	1	3	1	3	5	rs147876561	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:57480758C>T	uc009vzx.1	-	11	1562	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	DAB1_uc001cyt.1_Silent_p.T412T|DAB1_uc001cyq.1_Silent_p.T412T|DAB1_uc001cyr.1_Silent_p.T328T|DAB1_uc009vzw.1_Silent_p.T396T|DAB1_uc001cys.1_Silent_p.T414T	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	447					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						AATCCTTAAACGTTTCTTTGC	0.602													T	57480758	C	T	57480758	2	4	105	1	0	0	0	0	0	0	0	1	4251	523	19	1		1	DAB1	1	57480758	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	13662788	57480758	191769863	5	7035											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454524	114454524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attttcagtgcacttaaggtCtacagatgaggagtttattt	11	16	9	5	0	2	2	1	1	1	1	2	3	2	3	0	2	2	2	0	2	3	7			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:114454524C>G	uc001eeg.3	+	3	1604	c.1310C>G	c.(1309-1311)tCt>tGt	p.S437C	DCLRE1B_uc001eeh.3_Intron|DCLRE1B_uc001eei.3_Missense_Mutation_p.S311C	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	437					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CACTTAAGGTCTACAGATGAG	0.473								Other identified genes with known or suspected DNA repair function					G	114454524	C	G	114454524	3	3	105	1	0	0	0	0	1	0	0	0	4329	913	32	4	1324	4	DCLRE1B	1	114454524	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	56973766	114454524	134796097	6	7036											
CD1D	912	broad.mit.edu	37	chr1	158151257	158151257	+	Frame_Shift_Del	DEL	T	T	-																															tctcccagtcccgcaaaggcTtttccccctccgctgcctcc																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:158151257delT	uc001frr.3	+	2	573	c.74delT	c.(73-75)cttfs	p.L25fs	CD1D_uc009wsr.1_Frame_Shift_Del_p.L25fs|CD1D_uc009wss.3_Frame_Shift_Del_p.L25fs|CD1D_uc009wst.1_Intron	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	25					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					CCGCAAAGGCTTTTCCCCCTC	0.592													-	158151257	T	-	158151257	7	5	105	1	0	1	0	1	0	0	0	0	3007	1609	56	0	80	0	CD1D	1	158151257	Frame_Shift_Del	DEL	T	TCGA-06-6697-01A-11D-1845-08	43696733	158151257	91099364	7	7037											
CRB1	23418	broad.mit.edu	37	chr1	197313558	197313558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcaacactgatgagtgtgCcagtcaaccttgtctccatg	10	11	8	12	0	3	2	2	2	1	0	4	2	3	2	3	0	3	0	3	0	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:197313558C>A	uc001gtz.3	+	2	1009	c.800C>A	c.(799-801)gCc>gAc	p.A267D	CRB1_uc010poz.2_Missense_Mutation_p.A198D|CRB1_uc001gty.2_Missense_Mutation_p.A267D|CRB1_uc009wza.3_Intron|CRB1_uc010ppa.2_Non-coding_Transcript|CRB1_uc010ppb.2_Missense_Mutation_p.A267D|CRB1_uc010ppc.1_Non-coding_Transcript	NM_201253	NP_957705	P82279	CRUM1_HUMAN	Homo sapiens crumbs homolog 1 (Drosophila) (CRB1), transcript variant 1, mRNA.	267	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.C266C(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						GATGAGTGTGCCAGTCAACCT	0.512													A	197313558	C	A	197313558	3	1	105	1	0	0	0	0	1	0	0	0	3879	739	26	4	810	4	CRB1	1	197313558	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	39162301	197313558	51937063	8	7038											
IGFN1	91156	broad.mit.edu	37	chr1	201190709	201190709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctgtgcagctcagacagtCtccagtggctcccgtgccat	7	9	11	14	1	2	1	1	0	1	1	4	1	3	1	3	1	4	4	3	1	0	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:201190709C>T	uc001gwc.3	+	18	10166	c.10036C>T	c.(10036-10038)Ctc>Ttc	p.L3346F	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTCAGACAGTCTCCAGTGGCT	0.632													T	201190709	C	T	201190709	3	4	105	1	0	0	0	0	1	0	0	0	7648	913	32	2	10106	2	IGFN1	1	201190709	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	3877151	201190709	48059912	9	7039											
TLR5	7100	broad.mit.edu	37	chr1	223285038	223285038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctggagatgaggtacccGtaggagaaagtagagaatat	16	8	13	4	1	1	4	0	1	1	3	1	7	1	4	1	3	1	3	1	3	7	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:223285038G>A	uc021pjl.1	-	0	1336	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	TLR5_uc001hnv.2_Missense_Mutation_p.R446W|TLR5_uc001hnw.2_Missense_Mutation_p.R446W	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	446			Missing (in 10% of the population; abolishes flagellin signaling; associated with resistance to SLEB1).		cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		TGAGGTACCCGTAGGAGAAAG	0.403													A	223285038	G	A	223285038	3	1	105	1	0	0	0	0	1	0	0	0	16054	1144	40	1	1244	1	TLR5	1	223285038	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	22094329	223285038	25965583	10	7040											
C1orf150	148823	broad.mit.edu	37	chr1	247712504	247712504	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgaaaagatgggaaattAtctcctgcgaaaactcaggt	14	10	10	7	1	2	2	1	1	1	1	3	4	2	3	1	2	2	0	1	2	6	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr1:247712504A>T	uc001idf.3	+	0	158	c.11A>T	c.(10-12)tAt>tTt	p.Y4F	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	4								p.N3K(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			ATGGGAAATTATCTCCTGCGA	0.473													T	247712504	A	T	247712504	3	4	105	1	0	0	0	0	1	0	0	0	2024	449	16	5	13	5	C1orf150	1	247712504	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	24427466	247712504	1538117	11	7041											
EPAS1	2034	broad.mit.edu	37	chr2	46609718	46609718	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaggactacagcctgtcGtcagcccacaaggtgtcagg	10	7	11	13	1	2	0	2	0	0	0	3	1	2	1	3	3	4	0	3	3	3	2	rs4953362	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:46609718G>A	uc002ruv.3	+	14	2952	c.2442G>A	c.(2440-2442)tcG>tcA	p.S814S	EPAS1_uc002ruw.3_Silent_p.S280S	NM_001430	NP_001421	Q99814	EPAS1_HUMAN	Homo sapiens endothelial PAS domain protein 1 (EPAS1), mRNA.	814					angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			ACAGCCTGTCGTCAGCCCACA	0.607													A	46609718	G	A	46609718	2	1	105	1	0	0	0	0	0	0	0	1	5191	1132	40	1		1	EPAS1	2	46609718	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		46609718	196589655	12	7042											
DARS	1615	broad.mit.edu	37	chr2	136682064	136682074	+	Splice_Site	DEL	GATGTCTAGAA	GATGTCTAGAA	-																															ggaagactgcctgactagttGatgtctagaagacagtaata																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:136682064_136682074delGATGTCTAGAA	uc002tux.1	-	8	749	c.565_splice	c.e8-1	p.T189_splice	DARS_uc010fnj.1_Splice_Site_p.T89_splice	NM_001349	NP_001340	P14868	SYDC_HUMAN	Homo sapiens aspartyl-tRNA synthetase (DARS), mRNA.	189					aspartyl-tRNA aminoacylation|protein complex assembly	cytosol|nuclear membrane|plasma membrane|soluble fraction	aminoacylase activity|aspartate-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(2)	15				BRCA - Breast invasive adenocarcinoma(221;0.168)	L-Aspartic Acid(DB00128)	CTGACTAGTTGATGTCTAGAAGACAGTAATA	0.374													-	136682074	GATGTCTAGAA	-	136682064	8	5	105	1	0	1	0	1	0	0	1	0	4275	1294	45	0	972	0	DARS	2	136682064	Splice_Site	DEL	GATGTCTAGAA	TCGA-06-6697-01A-11D-1845-08	90072346	136682064	106517309	13	7043											
THSD7B	80731	broad.mit.edu	37	chr2	138373761	138373761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcatgcgatccccacaCaatgcagagaagaactcgcc	14	6	8	13	2	1	2	1	0	0	2	3	4	2	2	3	0	3	1	3	0	4	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:138373761C>T	uc002tva.1	+	16	3350	c.3350C>T	c.(3349-3351)aCa>aTa	p.T1117I	THSD7B_uc010zbj.1_Intron	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATCCCCACACAATGCAGAGA	0.418													T	138373761	C	T	138373761	3	4	105	1	0	0	0	0	1	0	0	0	15980	478	17	2	3418	2	THSD7B	2	138373761	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	1691697	138373761	104825612	14	7044											
FAP	2191	broad.mit.edu	37	chr2	163074520	163074520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtatggaatatttattgtTctaggatattgttcatcgcc	9	17	10	5	1	2	0	1	0	1	0	3	2	2	2	1	3	0	3	1	3	6	10			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:163074520T>A	uc002ucd.3	-	8	946	c.738A>T	c.(736-738)agA>agT	p.R246S	FAP_uc010zct.2_Missense_Mutation_p.R221S|FAP_uc010fpe.1_Missense_Mutation_p.R213S	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	246					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P245L(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TATTTATTGTTCTAGGATATT	0.353													A	163074520	T	A	163074520	3	1	105	1	0	0	0	0	1	0	0	0	5722	1780	62	5	1616	5	FAP	2	163074520	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	24700759	163074520	80124853	15	7045											
DHRS9	10170	broad.mit.edu	37	chr2	169939876	169939876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgctggtgttcccggCgtgctggctcccactgactg	6	11	12	12	2	0	1	0	1	0	0	2	1	2	1	2	3	2	4	2	3	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:169939876C>T	uc010zdc.2	+	2	643	c.531C>T	c.(529-531)ggC>ggT	p.G177G	DHRS9_uc002uep.3_Silent_p.G117G|DHRS9_uc002ueq.3_Silent_p.G117G|DHRS9_uc010zdd.2_Silent_p.G117G|DHRS9_uc010zde.2_Silent_p.G117G	NM_199204	NP_954674	Q9BPW9	DHRS9_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 9 (DHRS9), transcript variant 2, mRNA.	117					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GTGTTCCCGGCGTGCTGGCTC	0.468													T	169939876	C	T	169939876	2	4	105	1	0	0	0	0	0	0	0	1	4537	755	27	1		1	DHRS9	2	169939876	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	6865356	169939876	73259497	16	7046											
TTN	7273	broad.mit.edu	37	chr2	179599471	179599471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactgcagctatcactgccGacgtcattcactgcttcaca	9	11	7	14	2	4	0	4	0	0	0	4	1	4	0	1	0	5	4	1	0	2	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:179599471G>A	uc021vsy.1	-	47	11673	c.11448C>T	c.(11446-11448)gtC>gtT	p.V3816V	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.V477V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4743							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V3816V(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATCACTGCCGACGTCATTCA	0.363													A	179599471	G	A	179599471	2	1	105	1	0	0	0	0	0	0	0	1	16837	1045	37	1		1	TTN	2	179599471	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	9659595	179599471	63599902	17	7047											
DGKD	8527	broad.mit.edu	37	chr2	234363420	234363420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcagagagtattacaCggagaaatgtgtcatgaaca	14	10	10	7	1	1	3	1	1	0	2	1	5	1	3	1	1	3	2	1	1	4	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr2:234363420C>G	uc002vui.1	+	18	2288	c.2276C>G	c.(2275-2277)aCg>aGg	p.T759R	DGKD_uc002vuj.1_Missense_Mutation_p.T715R|DGKD_uc010fyh.1_Missense_Mutation_p.T626R|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	759					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GAGTATTACACGGAGAAATGT	0.453													G	234363420	C	G	234363420	3	3	105	1	0	0	0	0	1	0	0	0	4506	536	19	4	2374	4	DGKD	2	234363420	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	54763949	234363420	8835953	18	7048											
KCNH8	131096	broad.mit.edu	37	chr3	19574969	19574969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaaacgttctgtcacCtcagcagccatcacggtttt	9	12	8	12	2	5	0	3	0	2	0	5	1	5	1	2	2	3	3	2	2	2	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:19574969C>T	uc003cbk.1	+	15	2897	c.2702C>T	c.(2701-2703)cCt>cTt	p.P901L	KCNH8_uc010hex.1_Missense_Mutation_p.P362L	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	901						integral to membrane	two-component sensor activity	p.S900T(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GTTCTGTCACCTCAGCAGCCA	0.493													T	19574969	C	T	19574969	3	4	105	1	0	0	0	0	1	0	0	0	8096	681	24	2	2764	2	KCNH8	3	19574969	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		19574969	178447461	19	7049											
NBEAL2	23218	broad.mit.edu	37	chr3	47041686	47041686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggaacggtctagtgtagGatcaggcaacactgctggtg	9	9	14	9	1	2	0	1	0	1	0	2	2	2	2	1	5	3	3	1	5	4	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:47041686G>T	uc003cqp.3	+	26	4276	c.4097G>T	c.(4096-4098)gGa>gTa	p.G1366V	NBEAL2_uc010hjm.2_Splice_Site_p.G743_splice|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1366							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCTAGTGTAGGATCAGGCAAC	0.637													T	47041686	G	T	47041686	3	4	105	1	0	0	0	0	1	0	0	0	10265	1174	41	4	4203	4	NBEAL2	3	47041686	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	27466717	47041686	150980744	20	7050											
CELSR3	1951	broad.mit.edu	37	chr3	48685382	48685382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtagcgagggtagcgacGggccccccggggagaactgg	8	4	19	10	4	0	1	0	0	0	1	0	4	0	1	3	6	3	2	3	6	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:48685382G>A	uc003cuf.1	-	21	7231	c.7231C>T	c.(7231-7233)Cgt>Tgt	p.R2411C	CELSR3_uc010hkg.3_Missense_Mutation_p.R324C|CELSR3_uc003cul.3_Missense_Mutation_p.R2341C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	2341					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding	p.L2411F(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGTAGCGACGGGCCCCCCGG	0.632													A	48685382	G	A	48685382	3	1	105	1	0	0	0	0	1	0	0	0	3253	1116	39	1	2981	1	CELSR3	3	48685382	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	1643696	48685382	149337048	21	7051											
DNAJC13	23317	broad.mit.edu	37	chr3	132217972	132217972	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccattggttatttcagatTtacagccttataaatatgca	14	15	5	7	0	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	7	8			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132217972T>A	uc003eor.3	+	36	4224	c.4159T>A	c.(4159-4161)Tta>Ata	p.L1387I		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	1387							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATTTCAGATTTACAGCCTTA	0.328													A	132217972	T	A	132217972	3	1	105	1	0	0	0	0	1	0	0	0	4671	1838	64	5	4301	5	DNAJC13	3	132217972	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	83532590	132217972	65804458	22	7052											
NPHP3	84129	broad.mit.edu	37	chr3	132361623	132361623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgaaaacaaggctttCtggactttaaattctctatc	13	14	5	9	0	2	1	0	1	2	0	4	2	2	2	1	2	1	1	1	2	7	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:132361623C>A	uc003eov.4	-	2	653	c.273G>T	c.(271-273)caG>caT	p.Q91H		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	511					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACAAGGCTTTCTGGACTTTAA	0.323													A	132361623	C	A	132361623	3	1	105	1	0	0	0	0	1	0	0	0	10656	912	32	4		4	NPHP3	3	132361623	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	143651	132361623	65660807	23	7053											
ATP11B	23200	broad.mit.edu	37	chr3	182559871	182559871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttttgatagattcatggGacgaatgatcataacccaac	14	13	7	7	1	2	3	2	2	0	1	2	5	2	4	1	1	2	0	1	1	4	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr3:182559871G>T	uc003flb.3	+	7	922	c.665G>T	c.(664-666)gGa>gTa	p.G222V		NM_014616	NP_055431	Q9Y2G3	AT11B_HUMAN	Homo sapiens ATPase, class VI, type 11B (ATP11B), mRNA.	222					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGATTCATGGGACGAATGATC	0.299													T	182559871	G	T	182559871	3	4	105	1	0	0	0	0	1	0	0	0	1125	1174	41	4	695	4	ATP11B	3	182559871	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	50198248	182559871	15462559	24	7054											
DNAH5	1767	broad.mit.edu	37	chr5	13717485	13717485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagtggcattaaagtccGcttggttaaattcgtagggg	10	11	13	7	2	0	0	0	0	0	0	2	0	1	0	1	4	0	5	1	4	5	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:13717485G>A	uc003jfd.2	-	72	12686	c.12644C>T	c.(12643-12645)gCg>gTg	p.A4215V	DNAH5_uc003jfc.2_Missense_Mutation_p.A383V	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4215	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTAAAGTCCGCTTGGTTAAA	0.532									Kartagener syndrome				A	13717485	G	A	13717485	3	1	105	1	0	0	0	0	1	0	0	0	4643	1087	38	1	1258	1	DNAH5	5	13717485	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		13717485	167197775	25	7055											
C5orf42	65250	broad.mit.edu	37	chr5	37183582	37183582	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtcagcatccctggaataAggtaggtctctttcaagaat	12	12	9	8	0	3	1	2	0	1	1	5	2	4	2	1	3	1	2	1	3	5	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:37183582A>C	uc011cpa.1	-	25	4932	c.4701T>G	c.(4699-4701)ccT>ccG	p.P1567P	C5orf42_uc011coy.1_Silent_p.P68P|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Silent_p.P642P|C5orf42_uc011cpb.1_Silent_p.P448P	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	1567										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCCTGGAATAAGGTAGGTCTC	0.323													C	37183582	A	C	37183582	2	2	105	1	0	0	0	0	0	0	0	1	2323	59	3	5		5	C5orf42	5	37183582	Silent	SNP	A	TCGA-06-6697-01A-11D-1845-08	23466097	37183582	143731678	26	7056											
IRF1	3659	broad.mit.edu	37	chr5	131821402	131821402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcctcatcctcatctGttgtagctgtggatggggaa	6	14	10	11	0	3	0	2	0	1	0	6	2	6	2	3	3	1	3	3	3	2	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr5:131821402G>A	uc003kxa.2	-	7	908	c.674C>T	c.(673-675)aCa>aTa	p.T225I	C5orf56_uc010jds.2_Intron|IRF1_uc003kxd.2_Intron|IRF1_uc003kxb.2_Missense_Mutation_p.T225I|IRF1_uc010jdt.2_Missense_Mutation_p.T225I	NM_002198	NP_002189	P10914	IRF1_HUMAN	Homo sapiens interferon regulatory factor 1 (IRF1), mRNA.	225					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		ATCCTCATCTGTTGTAGCTGT	0.542													A	131821402	G	A	131821402	3	1	105	1	0	0	0	0	1	0	0	0	7885	1377	48	2	315	2	IRF1	5	131821402	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	94637820	131821402	49093858	27	7057											
DSP	1832	broad.mit.edu	37	chr6	7576571	7576571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaattgaggaattatcGtgataactatcaggctttct	13	13	8	7	1	2	2	1	2	1	0	3	3	2	3	0	2	2	2	0	2	6	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:7576571G>A	uc003mxp.1	+	18	2954	c.2675G>A	c.(2674-2676)cGt>cAt	p.R892H	DSP_uc003mxq.1_Missense_Mutation_p.R892H|DSP_uc021yle.1_Missense_Mutation_p.R892H	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	892	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGAATTATCGTGATAACTAT	0.388													A	7576571	G	A	7576571	3	1	105	1	0	0	0	0	1	0	0	0	4820	1145	40	1	2749	1	DSP	6	7576571	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		7576571	163538496	28	7058											
OR10C1	442194	broad.mit.edu	37	chr6	29408603	29408603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctacgatccggccactgacCctctggtgtccctcttctat	5	12	8	16	2	3	1	0	1	3	0	5	2	5	1	4	2	1	1	4	2	2	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:29408603C>A	uc011dlp.2	+	0	888	c.811C>A	c.(811-813)Cct>Act	p.P271T	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCCACTGACCCTCTGGTGTC	0.552													A	29408603	C	A	29408603	3	1	105	1	0	0	0	0	1	0	0	0	10974	623	22	4	813	4	OR10C1	6	29408603	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	21832032	29408603	141706464	29	7059											
ZNF318	24149	broad.mit.edu	37	chr6	43308071	43308072	+	Frame_Shift_Del	DEL	TC	TC	-																															ccttgtcatcctcctttactTctttcacagcctttgccttt																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:43308071_43308072delTC	uc003oux.3	-	9	3742_3743	c.3664_3665delGA	c.(3664-3666)gaafs	p.E1222fs	ZNF318_uc003ouw.3_Intron	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	1222	Lys-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCTTTACTTCTTTCACAGCC	0.45													-	43308072	TC	-	43308071	7	5	105	1	0	1	0	1	0	0	0	0	17937	1783	62	0	3178	0	ZNF318	6	43308071	Frame_Shift_Del	DEL	TC	TCGA-06-6697-01A-11D-1845-08	13899468	43308071	127806996	30	7060											
FILIP1	27145	broad.mit.edu	37	chr6	76023523	76023523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctagttgttgagagaggaaGttagccttatcctgctcagt	9	14	11	7	0	2	2	1	1	1	1	3	4	3	3	2	1	2	4	2	1	4	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr6:76023523G>C	uc010kbe.3	-	5	2564	c.2034C>G	c.(2032-2034)aaC>aaG	p.N678K	FILIP1_uc003phy.1_Missense_Mutation_p.N675K|FILIP1_uc003phz.3_Missense_Mutation_p.N576K|FILIP1_uc003pia.3_Missense_Mutation_p.N675K|FILIP1_uc003pib.1_Missense_Mutation_p.N427K	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	675								p.S678S(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAGAGGAAGTTAGCCTTAT	0.438													C	76023523	G	C	76023523	3	2	105	1	0	0	0	0	1	0	0	0	5943	1020	36	4	1624	4	FILIP1	6	76023523	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	32715452	76023523	95091544	31	7061											
SDK1	221935	broad.mit.edu	37	chr7	4050626	4050626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaaggtgcatctgtcaaaCgttggccctgagatgacagg	10	9	14	8	1	2	2	1	2	1	1	2	4	2	3	1	4	2	2	1	4	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:4050626C>T	uc003smx.3	+	14	2299	c.2160C>T	c.(2158-2160)aaC>aaT	p.N720N	SDK1_uc010kso.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	720	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ATCTGTCAAACGTTGGCCCTG	0.512													T	4050626	C	T	4050626	2	4	105	1	0	0	0	0	0	0	0	1	14061	535	19	1		1	SDK1	7	4050626	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08		4050626	155088037	32	7062											
PCLO	27445	broad.mit.edu	37	chr7	82579889	82579889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagagcagcatactgacCttccaaaattgcctgctctg	10	11	7	13	0	1	2	0	1	1	1	3	2	3	2	4	0	5	3	4	0	3	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82579889C>A	uc003uhx.2	-	5	10304	c.10015G>T	c.(10015-10017)Ggt>Tgt	p.G3339C	PCLO_uc003uhv.2_Missense_Mutation_p.G3339C|PCLO_uc010lec.3_Missense_Mutation_p.G304C	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCATACTGACCTTCCAAAATT	0.478													A	82579889	C	A	82579889	3	1	105	1	0	0	0	0	1	0	0	0	11659	681	24	4	5510	4	PCLO	7	82579889	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	78529263	82579889	76558774	33	7063											
PCLO	27445	broad.mit.edu	37	chr7	82784328	82784328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctttgctgggctaggCtgttgagctgagggttttgc	4	13	18	6	0	0	2	0	2	0	0	0	3	0	2	0	4	3	7	0	4	1	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:82784328C>T	uc003uhx.2	-	1	1918	c.1629G>A	c.(1627-1629)caG>caA	p.Q543Q	PCLO_uc003uhv.2_Silent_p.Q543Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	489	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGGGCTAGGCTGTTGAGCTG	0.547													T	82784328	C	T	82784328	2	4	105	1	0	0	0	0	0	0	0	1	11659	796	28	2		2	PCLO	7	82784328	Silent	SNP	C	TCGA-06-6697-01A-11D-1845-08	204439	82784328	76354335	34	7064											
ABCB4	5244	broad.mit.edu	37	chr7	87049323	87049323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactcctacctgtcttagCattgctttaaaagccattga	11	13	5	12	0	1	1	0	1	1	0	2	1	2	1	3	0	4	2	3	0	4	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:87049323C>T	uc003uiv.1	-	18	2461	c.2385G>A	c.(2383-2385)atG>atA	p.M795I	ABCB4_uc003uiw.1_Missense_Mutation_p.M795I|ABCB4_uc003uix.1_Missense_Mutation_p.M795I	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	795	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CCTGTCTTAGCATTGCTTTAA	0.428													T	87049323	C	T	87049323	3	4	105	1	0	0	0	0	1	0	0	0	43	710	25	2	1515	2	ABCB4	7	87049323	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	4264995	87049323	72089340	35	7065											
PIK3CG	5294	broad.mit.edu	37	chr7	106523501	106523501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcgagattgtgaaagacGccacgacaattgccaaaatt	15	9	9	8	3	0	4	0	2	0	2	1	6	0	4	2	0	1	0	2	0	4	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:106523501G>A	uc003vdv.4	+	7	2738	c.2653G>A	c.(2653-2655)Gcc>Acc	p.A885T	PIK3CG_uc003vdu.3_Missense_Mutation_p.A885T|PIK3CG_uc003vdw.3_Missense_Mutation_p.A885T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	885	PI3K/PI4K.				G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGAAAGACGCCACGACAAT	0.478													A	106523501	G	A	106523501	3	1	105	1	0	0	0	0	1	0	0	0	11993	1087	38	1	2679	1	PIK3CG	7	106523501	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	19474178	106523501	52615162	36	7066											
ZNF282	8427	broad.mit.edu	37	chr7	148909483	148909483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggacctcttgtcccGgattaaacaggaggagcatc	10	8	11	12	1	1	0	0	0	1	0	3	4	2	4	3	4	3	1	3	4	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr7:148909483G>A	uc003wfm.3	+	5	1091	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	ZNF282_uc011kun.1_Missense_Mutation_p.R329Q|ZNF282_uc003wfn.3_Missense_Mutation_p.R269Q|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	329					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCTTGTCCCGGATTAAACAG	0.498													A	148909483	G	A	148909483	3	1	105	1	0	0	0	0	1	0	0	0	17920	1116	39	1	1008	1	ZNF282	7	148909483	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	42385982	148909483	10229180	37	7067											
NCOA2	10499	broad.mit.edu	37	chr8	71057069	71057069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccagttgccctggtcGtgggttattaaaagctaagg	8	11	12	10	1	0	0	0	0	0	0	1	0	0	0	3	3	3	3	3	3	4	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:71057069G>A	uc003xyn.1	-	12	2782	c.2620C>T	c.(2620-2622)Cga>Tga	p.R874*	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	874					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGCCCTGGTCGTGGGTTATTA	0.388			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								A	71057069	G	A	71057069	4	1	105	1	0	0	0	0	0	1	0	0	10305	1153	40	1	1818	1	NCOA2	8	71057069	Nonsense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		71057069	75306953	38	7068											
PHF20L1	51105	broad.mit.edu	37	chr8	133806658	133806658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcattttgatttttgaggtAtccatcacgaattgaaaaaa	15	14	7	5	1	1	3	1	3	0	0	2	4	2	3	1	1	1	2	1	1	5	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr8:133806658A>G	uc003ytt.3	+	2	411	c.86A>G	c.(85-87)tAt>tGt	p.Y29C	PHF20L1_uc003ytr.3_Missense_Mutation_p.Y29C|PHF20L1_uc010mdv.3_Missense_Mutation_p.Y29C|PHF20L1_uc003yts.3_Missense_Mutation_p.Y29C|PHF20L1_uc011lja.2_Missense_Mutation_p.Y29C|PHF20L1_uc003ytu.1_Non-coding_Transcript	NM_016018	NP_057102	A8MW92	P20L1_HUMAN	Homo sapiens PHD finger protein 20-like 1 (PHF20L1), transcript variant 1, mRNA.	29	Tudor 1.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TTTTTGAGGTATCCATCACGA	0.338													G	133806658	A	G	133806658	3	3	105	1	0	0	0	0	1	0	0	0	11909	449	16	3	92	3	PHF20L1	8	133806658	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	62749589	133806658	12557364	39	7069											
SECISBP2	79048	broad.mit.edu	37	chr9	91973081	91973081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagatggccccccagccctGaaagaaaaagaagagccaca	17	2	10	12	0	0	5	0	1	0	4	0	6	0	5	5	1	2	0	5	1	5	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:91973081G>A	uc004aqj.1	+	15	2516	c.2436G>A	c.(2434-2436)ctG>ctA	p.L812L	SECISBP2_uc010mqo.1_Silent_p.L517L|SECISBP2_uc004aqk.1_Silent_p.L739L|SECISBP2_uc011ltk.1_Silent_p.L811L|SECISBP2_uc011ltl.1_Silent_p.L744L	NM_024077	NP_076982	Q96T21	SEBP2_HUMAN	Homo sapiens SECIS binding protein 2 (SECISBP2), mRNA.	812					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						CCCCAGCCCTGAAAGAAAAAG	0.562													A	91973081	G	A	91973081	2	1	105	1	0	0	0	0	0	0	0	1	14099	1277	45	2		2	SECISBP2	9	91973081	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08		91973081	49240350	40	7070											
LAMC3	10319	broad.mit.edu	37	chr9	133927934	133927934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcatactgaccttcCgggtgccccccggggactcc	5	7	10	19	2	1	1	1	1	0	0	3	2	3	2	8	3	3	0	8	3	1	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr9:133927934C>T	uc004caa.1	+	9	1785	c.1687C>T	c.(1687-1689)Cgg>Tgg	p.R563W		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	563	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity	p.F562S(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		ACTGACCTTCCGGGTGCCCCC	0.597											OREG0019556	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	133927934	C	T	133927934	3	4	105	1	0	0	0	0	1	0	0	0	8675	643	23	1	1725	1	LAMC3	9	133927934	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	41954853	133927934	7285497	41	7071											
CDH23	64072	broad.mit.edu	37	chr10	73567464	73567464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacactgcaggaggtgcgcGttgtgctagaggacatcaac	10	8	13	10	2	2	1	2	0	0	1	2	3	2	3	0	3	4	3	0	3	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:73567464G>A	uc001jrx.4	+	56	8881	c.8491G>A	c.(8491-8493)Gtt>Att	p.V2831I	CDH23_uc001jsg.4_Missense_Mutation_p.V594I|CDH23_uc001jsh.4_Missense_Mutation_p.V594I|CDH23_uc001jsi.4_Missense_Mutation_p.V594I	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	2834	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAGGTGCGCGTTGTGCTAGA	0.632													A	73567464	G	A	73567464	3	1	105	1	0	0	0	0	1	0	0	0	3138	1145	40	1	9075	1	CDH23	10	73567464	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		73567464	61967283	42	7072											
MYOF	26509	broad.mit.edu	37	chr10	95119651	95119651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcggaccagccttcgcCgtctatgagtgtggtacatt	6	14	11	10	3	1	1	0	1	1	0	3	2	1	2	3	2	2	2	3	2	2	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr10:95119651C>T	uc001kin.3	-	28	3182	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	MYOF_uc001kio.3_Missense_Mutation_p.R1007Q|MYOF_uc009xue.3_Non-coding_Transcript	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	1020					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CAGCCTTCGCCGTCTATGAGT	0.502													T	95119651	C	T	95119651	3	4	105	1	0	0	0	0	1	0	0	0	10165	652	23	1	3230	1	MYOF	10	95119651	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	21552187	95119651	40415096	43	7073											
OR51V1	283111	broad.mit.edu	37	chr11	5221570	5221570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtgaggaggacagaggActccatgaaggacagaccat	15	5	13	8	0	0	4	0	2	0	2	1	8	1	8	2	4	0	0	2	4	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:5221570A>T	uc010qyz.2	-	0	361	c.361T>A	c.(361-363)Tcc>Acc	p.S121T		NM_001004760	NP_001004760	Q9H2C8	O51V1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily V, member 1 (OR51V1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGACAGAGGACTCCATGAAG	0.473													T	5221570	A	T	5221570	3	4	105	1	0	0	0	0	1	0	0	0	11183	275	10	5	607	5	OR51V1	11	5221570	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08		5221570	129784946	44	7074											
OR10A3	26496	broad.mit.edu	37	chr11	7960995	7960995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaaccccaaagagctgcaCctggagctcaggaaagttag	15	5	11	10	0	1	1	1	0	0	1	1	4	1	3	3	2	4	4	3	2	5	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:7960995C>T	uc010rbi.2	-	0	73	c.73G>A	c.(73-75)Gtg>Atg	p.V25M		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAGAGCTGCACCTGGAGCTCA	0.413													T	7960995	C	T	7960995	3	4	105	1	0	0	0	0	1	0	0	0	10967	507	18	2	874	2	OR10A3	11	7960995	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	2739425	7960995	127045521	45	7075											
INSC	387755	broad.mit.edu	37	chr11	15198673	15198673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagattgagaagctgctaaTggagaaatgctcggagctct	13	9	12	7	1	1	3	0	1	1	3	2	6	1	4	0	2	4	4	0	2	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:15198673T>C	uc001mlz.3	+	3	530	c.419T>C	c.(418-420)aTg>aCg	p.M140T	INSC_uc001mly.3_Missense_Mutation_p.M187T|INSC_uc001mma.3_Missense_Mutation_p.M140T|INSC_uc010rcs.2_Missense_Mutation_p.M140T|INSC_uc001mmb.3_Missense_Mutation_p.M140T|INSC_uc001mmc.3_Missense_Mutation_p.M140T	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	187					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAGCTGCTAATGGAGAAATGC	0.493													C	15198673	T	C	15198673	3	2	105	1	0	0	0	0	1	0	0	0	7822	1464	51	3	574	3	INSC	11	15198673	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	7237678	15198673	119807843	46	7076											
OR1S1	219959	broad.mit.edu	37	chr11	57982888	57982888	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagttatcatcttccccttTacactcagcttcttttccta	7	18	2	14	0	5	0	3	0	2	0	7	0	7	0	3	0	2	2	3	0	3	8			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:57982888T>C	uc010rkc.2	+	0	672	c.672T>C	c.(670-672)ttT>ttC	p.F224F		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TCTTCCCCTTTACACTCAGCT	0.453													C	57982888	T	C	57982888	2	2	105	1	0	0	0	0	0	0	0	1	11048	1751	61	3		3	OR1S1	11	57982888	Silent	SNP	T	TCGA-06-6697-01A-11D-1845-08	42784215	57982888	77023628	47	7077											
MMP27	64066	broad.mit.edu	37	chr11	102575419	102575419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaaatgcttgcatttcccGaattttgtcatctatgagac	13	14	6	8	1	2	1	1	1	1	1	3	3	3	1	1	0	2	2	1	0	5	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:102575419G>A	uc001phd.1	-	1	213	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	64					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R64W(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		TGCATTTCCCGAATTTTGTCA	0.428													A	102575419	G	A	102575419	3	1	105	1	0	0	0	0	1	0	0	0	9740	1057	37	1	1387	1	MMP27	11	102575419	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	44592531	102575419	32431097	48	7078											
KDELC2	143888	broad.mit.edu	37	chr11	108345675	108345675	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggactggcgctcggcaTatttctgaaacgtgggttta	7	13	13	8	3	1	1	0	1	1	0	2	2	1	2	0	4	2	4	0	4	3	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr11:108345675T>A	uc001pkj.2	-	7	1469	c.1403A>T	c.(1402-1404)tAt>tTt	p.Y468F	KDELC2_uc001pki.2_Missense_Mutation_p.Y412F	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	468						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		GCGCTCGGCATATTTCTGAAA	0.507													A	108345675	T	A	108345675	3	1	105	1	0	0	0	0	1	0	0	0	8176	1406	49	5	124	5	KDELC2	11	108345675	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	5770256	108345675	26660841	49	7079											
CLEC7A	64581	broad.mit.edu	37	chr12	10277922	10277922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgagctgtctatctttaGgagattagagcccagttgcc	9	14	10	8	0	2	3	0	1	2	2	2	4	2	3	2	1	3	2	2	1	3	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10277922G>C	uc001qxg.2	-	3	653	c.466C>G	c.(466-468)Cta>Gta	p.L156V	CLEC7A_uc001qxe.3_Non-coding_Transcript|CLEC7A_uc001qxf.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxh.2_Missense_Mutation_p.L110V|CLEC7A_uc001qxi.2_Missense_Mutation_p.L156V|CLEC7A_uc001qxj.2_Missense_Mutation_p.L77V|CLEC7A_uc001qxk.1_Non-coding_Transcript|CLEC7A_uc009zhg.1_Intron|CLEC7A_uc021quz.1_Missense_Mutation_p.L110V|CLEC7A_uc021qva.1_Missense_Mutation_p.L110V	NM_197947	NP_922938	Q9BXN2	CLC7A_HUMAN	Homo sapiens C-type lectin domain family 7, member A (CLEC7A), transcript variant 1, mRNA.	156	C-type lectin.				carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TCTATCTTTAGGAGATTAGAG	0.383													C	10277922	G	C	10277922	3	2	105	1	0	0	0	0	1	0	0	0	3552	991	35	4	289	4	CLEC7A	12	10277922	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		10277922	123573973	50	7080											
KLRC2	3823	broad.mit.edu	37	chr12	10587963	10587963	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcaggacaatgcaaatGattcctaggacctcggcagt	12	8	10	11	1	1	1	1	1	0	0	3	3	2	3	3	3	1	2	3	3	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:10587963G>T	uc001qyh.3	-	1	241	c.234C>A	c.(232-234)atC>atA	p.I78I	KLRC2_uc010she.1_Silent_p.I78I|KLRC2_uc001qyk.2_Silent_p.I78I	NM_002261	NP_002252	P26717	NKG2C_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily C, member 3 (KLRC3), transcript variant 1, mRNA.	78					cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						CAATGCAAATGATTCCTAGGA	0.428													T	10587963	G	T	10587963	2	4	105	1	0	0	0	0	0	0	0	1	8474	1280	45	4		4	KLRC2	12	10587963	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	310041	10587963	123263932	51	7081											
HDAC7	51564	broad.mit.edu	37	chr12	48181754	48181754	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggatcacacagctcGtcatgacagaggcagagtaa	13	6	11	11	1	2	3	2	1	0	2	3	4	2	4	1	2	2	3	1	2	1	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:48181754G>A	uc010slo.2	-						HDAC7_uc001rqe.3_Intron|HDAC7_uc001rqj.4_Intron|HDAC7_uc001rqk.4_Intron|HDAC7_uc010slp.2_5'UTR	NM_015401	NP_056216	Q8WUI4	HDAC7_HUMAN	Homo sapiens histone deacetylase 7 (HDAC7), transcript variant 1, mRNA.						negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		cacacagctcgtcatgacaga	0.572													A	48181754	G	A	48181754	1	1	105	1	0	0	0	0	0	0	0	0	7067	1160	40	1		1	HDAC7	12	48181754	Translation_Start_Site	SNP	G	TCGA-06-6697-01A-11D-1845-08	37593791	48181754	85670141	52	7082											
METTL1	4234	broad.mit.edu	37	chr12	58162873	58162873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaattcttccctccattaCgtagaactttcttcccctcc	8	14	4	15	1	2	1	0	0	2	1	6	2	6	2	5	1	2	1	5	1	4	6	rs140194153	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:58162873C>T	uc010ssd.2	-	5	785	c.737G>A	c.(736-738)cGt>cAt	p.R246H	CYP27B1_uc001spz.1_5'Flank|CYP27B1_uc001sqa.1_5'Flank|METTL1_uc009zqc.3_3'UTR	NM_005371	NP_005362	Q9UBP6	TRMB_HUMAN	Homo sapiens methyltransferase like 1 (METTL1), transcript variant 1, mRNA.	246						cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.211)			CCCTCCATTACGTAGAACTTT	0.532													T	58162873	C	T	58162873	3	4	105	1	0	0	0	0	1	0	0	0	9568	536	19	1	97	1	METTL1	12	58162873	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	9981119	58162873	75689022	53	7083											
LRRIQ1	84125	broad.mit.edu	37	chr12	85459186	85459186	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacttaagtacattgaTgcacaggtatgctctctgcc	14	11	7	9	0	1	1	0	1	1	0	2	1	1	1	1	1	5	4	1	1	6	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:85459186T>C	uc001tac.3	+	8	2649	c.2538T>C	c.(2536-2538)gaT>gaC	p.D846D	LRRIQ1_uc021rbo.1_Silent_p.D724D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	846								p.D846N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGTACATTGATGCACAGGTAT	0.333													C	85459186	T	C	85459186	2	2	105	1	0	0	0	0	0	0	0	1	9099	1461	51	3		3	LRRIQ1	12	85459186	Silent	SNP	T	TCGA-06-6697-01A-11D-1845-08	27296313	85459186	48392709	54	7084											
KIAA1033	23325	broad.mit.edu	37	chr12	105519878	105519878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcacatagtattcggtcaAtttttgcaaatgtagaagcc	12	14	8	7	1	1	1	1	0	0	1	2	1	1	1	1	1	3	4	1	1	6	7			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr12:105519878A>G	uc010swr.2	+	10	970	c.883A>G	c.(883-885)Att>Gtt	p.I295V	KIAA1033_uc001tld.3_Missense_Mutation_p.I295V|KIAA1033_uc010sws.2_Missense_Mutation_p.I107V	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	295					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						TATTCGGTCAATTTTTGCAAA	0.308													G	105519878	A	G	105519878	3	3	105	1	0	0	0	0	1	0	0	0	8264	101	4	3	925	3	KIAA1033	12	105519878	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	20060692	105519878	28332017	55	7085											
DYNC1H1	1778	broad.mit.edu	37	chr14	102514280	102514280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgccctgcctggatgcGgacactgcacaccaccgcgt	6	5	13	17	5	0	0	0	0	0	0	0	2	0	2	4	3	3	1	4	3	0	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr14:102514280G>A	uc001yks.2	+	72	13297	c.13133G>A	c.(13132-13134)cGg>cAg	p.R4378Q		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	4378					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GCCTGGATGCGGACACTGCAC	0.612													A	102514280	G	A	102514280	3	1	105	1	0	0	0	0	1	0	0	0	4880	1116	39	1	13423	1	DYNC1H1	14	102514280	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		102514280	4835260	56	7086											
NRG4	145957	broad.mit.edu	37	chr15	76301577	76301577	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagtaggtatcacataaCaaagccccccattcaggcaa	16	7	7	11	0	2	0	2	0	0	0	2	1	2	0	3	2	2	3	3	2	7	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr15:76301577C>A	uc002bbo.3	-	2	250	c.68G>T	c.(67-69)tGt>tTt	p.C23F	NRG4_uc010bkm.1_Non-coding_Transcript|NRG4_uc002bbp.2_Non-coding_Transcript	NM_138573	NP_612640	Q8WWG1	NRG4_HUMAN	Homo sapiens neuregulin 4 (NRG4), mRNA.	23	EGF-like.					extracellular region|integral to membrane|plasma membrane	growth factor activity			large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	5						TATCACATAACAAAGCCCCCC	0.388													A	76301577	C	A	76301577	3	1	105	1	0	0	0	0	1	0	0	0	10726	478	17	4	295	4	NRG4	15	76301577	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		76301577	26229815	57	7087											
SRRM2	23524	broad.mit.edu	37	chr16	2812703	2812703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaagaagaggcagatctgGctcatcttcagagcggaaaa	15	7	11	8	1	5	4	3	0	2	4	5	5	5	5	0	3	1	2	0	3	4	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:2812703G>A	uc002crk.3	+	10	2723	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D	SRRM2_uc002crj.1_Missense_Mutation_p.G629D|SRRM2_uc002crl.1_Missense_Mutation_p.G725D|SRRM2_uc010bsu.1_Missense_Mutation_p.G629D	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	725	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.S724fs*27(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GGCAGATCTGGCTCATCTTCA	0.463													A	2812703	G	A	2812703	3	1	105	1	0	0	0	0	1	0	0	0	15265	1203	42	2	2212	2	SRRM2	16	2812703	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		2812703	87542050	58	7088											
CHD9	80205	broad.mit.edu	37	chr16	53276816	53276816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacttttgaaatgattcttgGaggctgtggagagcttaatg	10	14	12	5	0	1	3	0	2	1	1	1	5	1	4	0	3	1	2	0	3	2	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:53276816G>T	uc002ehb.3	+	11	3106	c.2942G>T	c.(2941-2943)gGa>gTa	p.G981V	CHD9_uc002egy.3_Missense_Mutation_p.G981V|CHD9_uc002ehc.3_Missense_Mutation_p.G981V|CHD9_uc002ehf.3_Missense_Mutation_p.G95V|CHD9_uc002ehg.2_Missense_Mutation_p.G95V|CHD9_uc002ehd.2_Missense_Mutation_p.G507V|CHD9_uc002ehe.1_Missense_Mutation_p.G95V	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	981	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				ATGATTCTTGGAGGCTGTGGA	0.363													T	53276816	G	T	53276816	3	4	105	1	0	0	0	0	1	0	0	0	3362	1174	41	4	2988	4	CHD9	16	53276816	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	50464113	53276816	37077937	59	7089											
CDYL2	124359	broad.mit.edu	37	chr16	80718602	80718602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcccgttctgagactttTtcaggggcattatttgcaaa	9	14	8	10	1	2	1	1	1	1	1	3	2	3	1	2	2	1	3	2	2	2	5			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr16:80718602T>C	uc002ffs.3	-	1	554	c.449A>G	c.(448-450)aAa>aGa	p.K150R		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	150						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CTGAGACTTTTTCAGGGGCAT	0.512													C	80718602	T	C	80718602	3	2	105	1	0	0	0	0	1	0	0	0	3216	1841	64	3	1095	3	CDYL2	16	80718602	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	27441786	80718602	9636151	60	7090											
MAP2K3	5606	broad.mit.edu	37	chr17	21205510	21205510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccttggacaagttctaccGgaaggtgctggataaaaaca	14	9	10	8	1	1	0	0	0	1	0	2	3	2	3	2	4	3	2	2	4	6	4	rs148304866		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:21205510G>A	uc002gys.3	+	5	720	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	MAP2K3_uc002gyt.3_Missense_Mutation_p.R123Q|MAP2K3_uc021tsq.1_Missense_Mutation_p.R123Q|MAP2K3_uc021tsr.1_Missense_Mutation_p.R123Q	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	152	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAGTTCTACCGGAAGGTGCTG	0.592													A	21205510	G	A	21205510	3	1	105	1	0	0	0	0	1	0	0	0	9313	1116	39	1	477	1	MAP2K3	17	21205510	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		21205510	59989700	61	7091											
NOS2	4843	broad.mit.edu	37	chr17	26094858	26094858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacatcaaacgtctcacaGgctgcctggaagaaggtgga	12	6	13	10	2	2	1	2	0	1	1	3	4	2	4	1	5	2	1	1	5	3	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:26094858G>A	uc002gzu.3	-	17	2304	c.2040C>T	c.(2038-2040)gcC>gcT	p.A680A	NOS2_uc010wab.1_Silent_p.A645A	NM_000625	NP_000616	P35228	NOS2_HUMAN	Homo sapiens nitric oxide synthase 2, inducible (NOS2), mRNA.	680					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	p.A679S(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	ACGTCTCACAGGCTGCCTGGA	0.572													A	26094858	G	A	26094858	2	1	105	1	0	0	0	0	0	0	0	1	10619	987	35	2		2	NOS2	17	26094858	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	4889348	26094858	55100352	62	7092											
EVI2B	2124	broad.mit.edu	37	chr17	29632208	29632208	+	Missense_Mutation	SNP	C	C	A																															gtaaaagtatagacaaatgaCtttggtggttgtgtggtaga																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632208C>A	uc010csq.2	-	2	648	c.465G>T	c.(463-465)aaG>aaT	p.K155N	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140N|EVI2B_uc021tuk.1_Missense_Mutation_p.K140N	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	140						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		AGACAAATGACTTTGGTGGTT	0.438													A	29632208	C	A	29632208	3	1	105	1	0	0	0	0	1	0	0	0	5329	564	20	4	930	4	EVI2B	17	29632208	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	3537350	29632208	51563002	63	7093	9	2									
EVI2B	2124	broad.mit.edu	37	chr17	29632210	29632210	+	Missense_Mutation	SNP	T	T	G																															aaaagtatagacaaatgactTtggtggttgtgtggtagaag																										TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:29632210T>G	uc010csq.2	-	2	646	c.463A>C	c.(463-465)Aag>Cag	p.K155Q	NF1_uc002hgg.3_Intron|NF1_uc002hgh.3_Intron|NF1_uc002hgi.1_Intron|NF1_uc010cso.3_Intron|EVI2B_uc002hgk.2_Missense_Mutation_p.K140Q|EVI2B_uc021tuk.1_Missense_Mutation_p.K140Q	NM_006495	NP_006486	P34910	EVI2B_HUMAN	Homo sapiens ecotropic viral integration site 2B (EVI2B), mRNA.	140						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		ACAAATGACTTTGGTGGTTGT	0.438													G	29632210	T	G	29632210	3	3	105	1	0	0	0	0	1	0	0	0	5329	1850	64	5	932	5	EVI2B	17	29632210	Missense_Mutation	SNP	T	TCGA-06-6697-01A-11D-1845-08	2	29632210	51563000	64	7094	9	2									
PEX12	5193	broad.mit.edu	37	chr17	33904178	33904178	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagtggtgagtgatgctGagcttttcctaggatgtatc	8	13	13	7	0	0	3	0	3	0	0	2	4	1	4	1	2	3	4	1	2	2	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:33904178G>A	uc002hjp.3	-	1	1175	c.559C>T	c.(559-561)Cag>Tag	p.Q187*		NM_000286	NP_000277	O00623	PEX12_HUMAN	Homo sapiens peroxisomal biogenesis factor 12 (PEX12), mRNA.	187					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	p.Q187Q(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GAGTGATGCTGAGCTTTTCCT	0.493													A	33904178	G	A	33904178	4	1	105	1	0	0	0	0	0	1	0	0	11817	1299	45	2	528	2	PEX12	17	33904178	Nonsense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	4271968	33904178	47291032	65	7095											
TEX14	56155	broad.mit.edu	37	chr17	56699012	56699012	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcaaggcagtactcaccCctgcacgaggcccccacacc	9	5	8	19	1	2	0	2	0	0	0	2	1	2	0	5	2	3	4	5	2	2	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr17:56699012C>A	uc010dcz.2	-	5	672	c.554_splice	c.e5+1	p.G185_splice	TEX14_uc002iwr.2_Splice_Site_p.G185_splice|TEX14_uc002iws.2_Splice_Site_p.G185_splice|TEX14_uc010dda.2_Splice_Site	NM_001201457	NP_001188386	Q8IWB6	TEX14_HUMAN	Homo sapiens testis expressed 14 (TEX14), transcript variant 3, mRNA.	185						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTCACCCCTGCACGAGG	0.612													A	56699012	C	A	56699012	4	1	105	1	0	0	0	0	0	1	0	0	15878	637	22	4	4038	4	TEX14	17	56699012	Nonsense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	22794834	56699012	24496198	66	7096											
TIMM44	10469	broad.mit.edu	37	chr19	7998999	7998999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggctctgaaggccgctGtcctgcccagcttctccccg	5	8	12	16	2	2	2	0	1	2	1	4	2	3	2	5	2	2	3	5	2	1	1			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:7998999G>T	uc002miz.3	-	4	690	c.518C>A	c.(517-519)aCa>aAa	p.T173K	TIMM44_uc010dvx.2_Non-coding_Transcript	NM_006351	NP_006342	O43615	TIM44_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 44 homolog (yeast) (TIMM44), nuclear gene encoding mitochondrial protein, mRNA.	173					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						GAAGGCCGCTGTCCTGCCCAG	0.677													T	7998999	G	T	7998999	3	4	105	1	0	0	0	0	1	0	0	0	16012	1377	48	4	876	4	TIMM44	19	7998999	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		7998999	51129984	67	7097											
SLC44A2	57153	broad.mit.edu	37	chr19	10748353	10748353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttgccaagtgcctcatgaCctgtctcaaatgctgcttct	7	14	8	12	0	3	1	2	1	2	0	4	1	3	1	3	0	4	3	3	0	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:10748353C>T	uc002mpf.3	+	16	1764	c.1625C>T	c.(1624-1626)aCc>aTc	p.T542I	SLC44A2_uc002mpe.4_Missense_Mutation_p.T540I|SLC44A2_uc002mpg.1_Missense_Mutation_p.T262I|SLC44A2_uc002mph.3_Missense_Mutation_p.T91I|SLC44A2_uc002mpi.3_5'Flank	NM_020428	NP_065161	Q8IWA5	CTL2_HUMAN	Homo sapiens solute carrier family 44, member 2 (SLC44A2), transcript variant 1, mRNA.	542					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	TGCCTCATGACCTGTCTCAAA	0.527													T	10748353	C	T	10748353	3	4	105	1	0	0	0	0	1	0	0	0	14730	507	18	2	1726	2	SLC44A2	19	10748353	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	2749354	10748353	48380630	68	7098											
ZNF709	163051	broad.mit.edu	37	chr19	12575471	12575471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctttaccacattgtttaCattcatggggtttctctcca	8	16	7	10	0	2	0	1	0	1	0	4	0	3	0	2	3	2	3	2	3	2	7			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:12575471C>T	uc002mtv.4	-	3	1426	c.1265G>A	c.(1264-1266)tGt>tAt	p.C422Y	ZNF709_uc002mtw.4_Missense_Mutation_p.C390Y|ZNF709_uc002mtx.4_Missense_Mutation_p.C422Y	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						ACATTGTTTACATTCATGGGG	0.408													T	12575471	C	T	12575471	3	4	105	1	0	0	0	0	1	0	0	0	18214	478	17	2	664	2	ZNF709	19	12575471	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08	1827118	12575471	46553512	69	7099											
ZNF570	148268	broad.mit.edu	37	chr19	37975633	37975633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagcatttagccttcGtgcataccttactgtacatc	10	13	8	10	1	0	0	0	0	0	0	2	1	0	1	2	1	6	3	2	1	5	6	rs146360083		TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:37975633G>A	uc010efl.1	+	5	1396	c.1277G>A	c.(1276-1278)cGt>cAt	p.R426H	ZNF570_uc002ogk.1_Missense_Mutation_p.R370H|ZNF570_uc010xtr.1_Missense_Mutation_p.R167H	NM_144694	NP_653295	Q96NI8	ZN570_HUMAN	Homo sapiens zinc finger protein 570 (ZNF570), mRNA.	370					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTAGCCTTCGTGCATACCTT	0.423													A	37975633	G	A	37975633	3	1	105	1	0	0	0	0	1	0	0	0	18103	1145	40	1	1123	1	ZNF570	19	37975633	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	25400162	37975633	21153350	70	7100											
ARHGAP35	2909	broad.mit.edu	37	chr19	47422855	47422855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctccagaataccaggactAtgtctacctggaagggactc	11	9	9	12	0	2	1	0	0	2	1	4	4	2	4	3	3	2	0	3	3	5	3			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:47422855A>G	uc010ekv.3	+	0	923	c.923A>G	c.(922-924)tAt>tGt	p.Y308C		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	308	FF 1.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TACCAGGACTATGTCTACCTG	0.502													G	47422855	A	G	47422855	3	3	105	1	0	0	0	0	1	0	0	0	6850	449	16	3	925	3	ARHGAP35	19	47422855	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08	9447222	47422855	11706128	71	7101											
LILRA5	353514	broad.mit.edu	37	chr19	54823844	54823844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagggcagggctcacggcGtctcctcccactggctgcag	6	7	14	14	2	2	1	1	1	1	0	4	1	3	1	2	4	1	4	2	4	0	0	rs143927346	byFrequency	TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr19:54823844G>A	uc002qfe.3	-	1	171	c.51C>T	c.(49-51)gaC>gaT	p.D17D	LILRA5_uc002qff.3_Silent_p.D17D|LILRA5_uc010yev.2_Silent_p.D17D|LILRA5_uc010yew.2_Silent_p.D17D|LILRA5_uc002qfg.1_Silent_p.D17D|LILRA5_uc002qfh.1_Silent_p.D17D	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	17					innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGCTCACGGCGTCTCCTCCCA	0.632													A	54823844	G	A	54823844	2	1	105	1	0	0	0	0	0	0	0	1	8848	1136	40	1		1	LILRA5	19	54823844	Silent	SNP	G	TCGA-06-6697-01A-11D-1845-08	7400989	54823844	4305139	72	7102											
PCSK2	5126	broad.mit.edu	37	chr20	17446060	17446060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggtccatcagtggcggcGcaatggggtcggcctggaat	7	7	17	10	4	1	0	1	0	0	0	3	2	2	1	2	7	0	1	2	7	2	0			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:17446060G>A	uc002wpm.3	+	10	1646	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PCSK2_uc002wpl.3_Missense_Mutation_p.R412H|PCSK2_uc010zrm.2_Missense_Mutation_p.R396H|PCSK2_uc002wpn.3_Missense_Mutation_p.R85H	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	431					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.R431C(1)|p.R430Q(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGTGGCGGCGCAATGGGGTC	0.567													A	17446060	G	A	17446060	3	1	105	1	0	0	0	0	1	0	0	0	11677	1087	38	1	1334	1	PCSK2	20	17446060	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		17446060	45579460	73	7103											
SYCP2	10388	broad.mit.edu	37	chr20	58444912	58444912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agattcaatttccataaaccGttcttctgaactataactgc	13	14	4	10	1	3	2	1	1	2	1	4	2	4	2	2	0	4	1	2	0	6	7			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr20:58444912G>A	uc002yaz.3	-	34	3821	c.3682C>T	c.(3682-3684)Cgg>Tgg	p.R1228W		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	1228					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCCATAAACCGTTCTTCTGAA	0.294													A	58444912	G	A	58444912	3	1	105	1	0	0	0	0	1	0	0	0	15529	1144	40	1	950	1	SYCP2	20	58444912	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	40998852	58444912	4580608	74	7104											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021295	46021295	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgctgccagccAgcttgctgcacctcctccca	5	10	8	18	1	1	0	1	0	0	0	4	0	4	0	6	1	6	5	6	1	0	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr21:46021295A>C	uc002zfn.4	+	1	784	c.759A>C	c.(757-759)ccA>ccC	p.P253P	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	258	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCTGCCAGCCAGCTTGCTGCA	0.632													C	46021295	A	C	46021295	2	2	105	1	0	0	0	0	0	0	0	1	8572	175	7	5		5	KRTAP10-7	21	46021295	Silent	SNP	A	TCGA-06-6697-01A-11D-1845-08		46021295	2108600	75	7105											
LZTR1	8216	broad.mit.edu	37	chr22	21342314	21342314	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggggttacactggggAcatttattccaattctaact	10	13	9	9	0	2	0	1	0	1	0	3	1	3	1	1	4	2	1	1	4	4	6			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:21342314A>C	uc002zto.3	+	4	519	c.416A>C	c.(415-417)gAc>gCc	p.D139A	LZTR1_uc002ztn.3_Missense_Mutation_p.D98A|LZTR1_uc011ahy.2_Missense_Mutation_p.D120A|LZTR1_uc010gsr.1_Missense_Mutation_p.D10A	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	139					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACACTGGGGACATTTATTCC	0.453													C	21342314	A	C	21342314	3	2	105	1	0	0	0	0	1	0	0	0	9208	275	10	5	434	5	LZTR1	22	21342314	Missense_Mutation	SNP	A	TCGA-06-6697-01A-11D-1845-08		21342314	29962252	76	7106											
MYO18B	84700	broad.mit.edu	37	chr22	26348345	26348345	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcggtcatctgtgacctaGagaacaagacagagttccag	13	7	12	9	1	2	4	1	1	1	3	3	5	3	4	2	2	1	1	2	2	3	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:26348345G>C	uc003abz.1	+	37	6176	c.5926G>C	c.(5926-5928)Gag>Cag	p.E1976Q	MYO18B_uc003aca.1_Missense_Mutation_p.E1857Q|MYO18B_uc010guy.1_Missense_Mutation_p.E1858Q|MYO18B_uc010guz.1_Missense_Mutation_p.E1856Q|MYO18B_uc011aka.1_Missense_Mutation_p.E1130Q|MYO18B_uc011akb.1_Missense_Mutation_p.E1489Q|MYO18B_uc010gva.1_5'Flank	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1976	Tail.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CTGTGACCTAGAGAACAAGAC	0.517													C	26348345	G	C	26348345	3	2	105	1	0	0	0	0	1	0	0	0	10142	943	33	4	6072	4	MYO18B	22	26348345	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	5006031	26348345	24956221	77	7107											
SMC1B	27127	broad.mit.edu	37	chr22	45750854	45750854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaccatctgtggactcttGaaacttgtctctgacagtct	8	16	7	10	0	4	2	0	2	4	0	5	3	4	3	1	1	2	0	1	1	2	4			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chr22:45750854G>C	uc003bgc.3	-	19	3155	c.3103C>G	c.(3103-3105)Caa>Gaa	p.Q1035E	SMC1B_uc003bgd.3_Missense_Mutation_p.Q1035E	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	1035					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTGGACTCTTGAAACTTGTCT	0.408													C	45750854	G	C	45750854	3	2	105	1	0	0	0	0	1	0	0	0	14876	1299	45	4	628	4	SMC1B	22	45750854	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08	19402509	45750854	5553712	78	7108											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299442	125299442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcttggagggattcagctCgatggcatggatgccgcagc	7	9	15	10	3	2	0	1	0	1	0	3	4	2	3	1	4	3	3	1	4	0	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrX:125299442C>T	uc004euk.2	-	0	639	c.466G>A	c.(466-468)Gag>Aag	p.E156K		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	156								p.E156K(2)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGATTCAGCTCGATGGCATGG	0.682													T	125299442	C	T	125299442	3	4	105	1	0	0	0	0	1	0	0	0	4299	893	31	1	929	1	DCAF12L2	23	125299442	Missense_Mutation	SNP	C	TCGA-06-6697-01A-11D-1845-08		125299442	29971118	79	7109											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605925	5605925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaaccttcgctccacGccaacaggccagaccgtcca	10	7	7	17	3	0	2	0	1	0	1	3	2	2	2	6	1	2	1	6	1	2	2			TCGA-06-6697-01A-11D-1845-08	TCGA-06-6697-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d947ed1-1315-459e-b973-f3dd624d9e39	e9768b4f-626b-4f30-a864-af064338ed26	g.chrY:5605925G>A	uc004fqo.3	+	4	4699	c.3965G>A	c.(3964-3966)cGc>cAc	p.R1322H	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1322					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTCGCTCCACGCCAACAGGCC	0.408													A	5605925	G	A	5605925	3	1	105	1	0	0	0	0	1	0	0	0	11585	1087	38	1	4041	1	PCDH11Y	24	5605925	Missense_Mutation	SNP	G	TCGA-06-6697-01A-11D-1845-08		5605925	53767641	80	7110											
ATAD3C	219293	broad.mit.edu	37	chr1	1392509	1392509	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctccctctcgtccacagCctcctgctctttgtggatga	4	12	9	16	1	2	1	0	1	2	0	6	2	5	2	5	2	2	1	5	2	0	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:1392509C>T	uc001aft.2	+	8	1685	c.690_splice	c.e8-1	p.G230_splice		NM_001039211	NP_001034300	Q5T2N8	ATD3C_HUMAN	Homo sapiens ATPase family, AAA domain containing 3C (ATAD3C), mRNA.	230							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TCGTCCACAGCCTCCTGCTCT	0.642													T	1392509	C	T	1392509	2	4	106	1	0	0	0	0	0	0	0	1	1080	753	26	2		2	ATAD3C	1	1392509	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		1392509	247858112	1	7111											
HP1BP3	50809	broad.mit.edu	37	chr1	21106349	21106349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcttgcttttgggaggaGtttcccgggtagaattcaca	9	12	12	8	1	1	1	1	0	0	1	2	3	2	3	1	3	2	4	1	3	3	6			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:21106349G>A	uc001bdy.1	-	1	252	c.152C>T	c.(151-153)aCt>aTt	p.T51I	HP1BP3_uc001bdv.1_Missense_Mutation_p.T13I|HP1BP3_uc001bdw.1_Missense_Mutation_p.T51I|HP1BP3_uc010odh.1_Missense_Mutation_p.T13I|HP1BP3_uc001bea.2_Missense_Mutation_p.T50I|HP1BP3_uc001beb.3_Missense_Mutation_p.T51I	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	51					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		TTTGGGAGGAGTTTCCCGGGT	0.403													A	21106349	G	A	21106349	3	1	106	1	0	0	0	0	1	0	0	0	7383	1029	36	2	1553	2	HP1BP3	1	21106349	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	19713840	21106349	228144272	2	7112											
PEX11B	8799	broad.mit.edu	37	chr1	145517332	145517332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggcatggagccagtcCtgagttacagaaacagattc	13	7	12	9	0	0	4	0	1	0	3	2	5	1	5	2	2	3	3	2	2	2	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:145517332C>T	uc001eny.2	+	1	352	c.116C>T	c.(115-117)cCt>cTt	p.P39L	GNRHR2_uc009wiv.2_5'Flank|GNRHR2_uc010oyt.1_5'Flank|GNRHR2_uc001enx.3_5'Flank|PEX11B_uc010oyu.2_Missense_Mutation_p.P25L	NM_003846	NP_003837	O96011	PX11B_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 beta (PEX11B), transcript variant 1, mRNA.	39					peroxisome fission|signal transduction	integral to peroxisomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GGAGCCAGTCCTGAGTTACAG	0.537													T	145517332	C	T	145517332	3	4	106	1	0	0	0	0	1	0	0	0	11815	681	24	2	140	2	PEX11B	1	145517332	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	124410983	145517332	103733289	3	7113											
IQGAP3	128239	broad.mit.edu	37	chr1	156524129	156524129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagggcccggttaatcAggaccacagctgagagcatc	10	6	11	14	1	1	1	1	1	0	1	3	3	2	2	4	3	2	3	4	3	1	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:156524129A>G	uc001fpf.3	-	12	1421	c.1346T>C	c.(1345-1347)cTg>cCg	p.L449P	IQGAP3_uc009wsb.1_Missense_Mutation_p.L406P	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	449					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)					CCGGTTAATCAGGACCACAGC	0.622													G	156524129	A	G	156524129	3	3	106	1	0	0	0	0	1	0	0	0	7874	188	7	3	3653	3	IQGAP3	1	156524129	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	11006797	156524129	92726492	4	7114											
F13B	2165	broad.mit.edu	37	chr1	197021962	197021962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccacattaacagtacatgGttctgtaaaacaaaatgctc	16	11	5	9	0	1	0	0	0	1	0	3	0	2	0	1	1	4	4	1	1	6	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr1:197021962G>A	uc001gtt.1	-	8	1401	c.1357C>T	c.(1357-1359)Cca>Tca	p.P453S		NM_001994	NP_001985	P05160	F13B_HUMAN	Homo sapiens coagulation factor XIII, B polypeptide (F13B), mRNA.	453	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						ACAGTACATGGTTCTGTAAAA	0.259													A	197021962	G	A	197021962	3	1	106	1	0	0	0	0	1	0	0	0	5383	1261	44	2	644	2	F13B	1	197021962	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	40497833	197021962	52228659	5	7115											
SMARCAL1	50485	broad.mit.edu	37	chr2	217285033	217285033	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggcagtgaaagcagccCagagcctccccacggtcaac	10	6	10	15	1	1	2	1	1	0	1	2	2	2	2	4	2	4	2	4	2	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr2:217285033C>T	uc002vgc.4	+	4	1204	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	SMARCAL1_uc002vgd.4_Nonsense_Mutation_p.Q292*|SMARCAL1_uc010fvg.3_Nonsense_Mutation_p.Q292*	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	292	HARP 1.				chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		GAAAGCAGCCCAGAGCCTCCC	0.557									Schimke Immuno-Osseous Dysplasia				T	217285033	C	T	217285033	4	4	106	1	0	0	0	0	0	1	0	0	14867	595	21	2	884	2	SMARCAL1	2	217285033	Nonsense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		217285033	25914340	6	7116											
PIK3CB	5291	broad.mit.edu	37	chr3	138374298	138374298	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtccagctttccctgAgcgcctcatcaaatttttgc	8	14	7	12	1	2	1	2	1	0	0	4	1	4	1	3	0	3	2	3	0	3	5			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr3:138374298A>C	uc011bmq.2	-	21	3146	c.3146T>G	c.(3145-3147)cTc>cGc	p.L1049R	PIK3CB_uc011bmn.2_Missense_Mutation_p.L561R|PIK3CB_uc011bmo.2_Missense_Mutation_p.L500R|PIK3CB_uc011bmp.2_Missense_Mutation_p.L636R|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1049	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1048V(1)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GCTTTCCCTGAGCGCCTCATC	0.418													C	138374298	A	C	138374298	3	2	106	1	0	0	0	0	1	0	0	0	11991	304	11	5	68	5	PIK3CB	3	138374298	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		138374298	59648132	7	7117											
RBM47	54502	broad.mit.edu	37	chr4	40440532	40440532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgttgagctcacgcactgCgcgcttggcctcgtgcttgt	3	13	13	12	4	1	1	1	1	0	0	2	1	1	1	1	1	3	6	1	1	0	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr4:40440532C>T	uc003gvc.2	-	3	1089	c.379G>A	c.(379-381)Gca>Aca	p.A127T	RBM47_uc003gvd.2_Missense_Mutation_p.A127T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A89T|RBM47_uc003gvg.1_Missense_Mutation_p.A127T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	127	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TCACGCACTGCGCGCTTGGCC	0.642													T	40440532	C	T	40440532	3	4	106	1	0	0	0	0	1	0	0	0	13229	768	27	1	1418	1	RBM47	4	40440532	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		40440532	150713744	8	7118											
FYB	2533	broad.mit.edu	37	chr5	39202820	39202820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccagtgggctttagaaaCgggggcttgggttccttgtc	5	12	15	9	1	0	1	0	0	0	1	3	1	2	1	2	4	1	4	2	4	2	5			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:39202820C>T	uc003jls.3	-	0	310	c.243G>A	c.(241-243)ccG>ccA	p.P81P	FYB_uc003jlt.3_Silent_p.P81P|FYB_uc003jlu.3_Silent_p.P81P|FYB_uc011cpl.2_Silent_p.P91P	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	81					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			GCTTTAGAAACGGGGGCTTGG	0.552													T	39202820	C	T	39202820	2	4	106	1	0	0	0	0	0	0	0	1	6176	523	19	1		1	FYB	5	39202820	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		39202820	141712440	9	7119											
NUDT12	83594	broad.mit.edu	37	chr5	102891710	102891710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatctcttatagccacCttcttcaattttagttgcat	11	17	3	10	0	3	0	1	0	2	0	4	0	3	0	2	0	2	2	2	0	5	8			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:102891710C>T	uc003koi.3	-	3	979	c.886G>A	c.(886-888)Ggt>Agt	p.G296S	NUDT12_uc011cvb.2_Missense_Mutation_p.G278S	NM_031438	NP_113626	Q9BQG2	NUD12_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 12 (NUDT12), mRNA.	296						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TTATAGCCACCTTCTTCAATT	0.393													T	102891710	C	T	102891710	3	4	106	1	0	0	0	0	1	0	0	0	10804	681	24	2	518	2	NUDT12	5	102891710	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	63688890	102891710	78023550	10	7120											
PCDHGC5	56114	broad.mit.edu	37	chr5	140711002	140711002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacaataccatataaatGtccccgaaaacgtgccgctg	14	7	8	12	3	0	0	0	0	0	0	1	1	1	0	4	1	3	2	4	1	7	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:140711002G>A	uc003lji.2	+	0	751	c.751G>A	c.(751-753)Gtc>Atc	p.V251I	PCDHGC5_uc011dan.2_Missense_Mutation_p.V251I	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	251	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATATAAATGTCCCCGAAAA	0.493													A	140711002	G	A	140711002	3	1	106	1	0	0	0	0	1	0	0	0	11647	1377	48	2		2	PCDHGC5	5	140711002	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	37819292	140711002	40204258	11	7121											
RUFY1	80230	broad.mit.edu	37	chr5	179036447	179036447	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgagctggccctgccctcctAccccaagccggtgcgagtgt	5	7	12	17	3	0	0	0	0	0	0	1	2	1	0	6	2	5	1	6	2	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr5:179036447A>C	uc003mka.1	+	17	2054	c.2054A>C	c.(2053-2055)tAc>tCc	p.Y685S	RUFY1_uc003mkb.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkc.1_Missense_Mutation_p.Y577S|RUFY1_uc003mkd.1_Missense_Mutation_p.Y287S	NM_025158	NP_001035542	Q96T51	RUFY1_HUMAN	Homo sapiens RUN and FYVE domain containing 1 (RUFY1), transcript variant 1, mRNA.	685					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGCCCTCCTACCCCAAGCCG	0.647										HNSCC(44;0.11)			C	179036447	A	C	179036447	3	2	106	1	0	0	0	0	1	0	0	0	13829	391	14	5	2124	5	RUFY1	5	179036447	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	38325445	179036447	1878813	12	7122											
CARD11	84433	broad.mit.edu	37	chr7	2951813	2951813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccccgcctcaccttggcgGccacagcttcaatgttggca	6	9	10	16	2	2	0	2	0	0	0	3	0	3	0	5	3	1	3	5	3	1	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:2951813G>A	uc003smv.3	-	22	3471	c.3137C>T	c.(3136-3138)gCc>gTc	p.A1046V		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	1046	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CACCTTGGCGGCCACAGCTTC	0.602			Mis		DLBCL								A	2951813	G	A	2951813	3	1	106	1	0	0	0	0	1	0	0	0	2671	1203	42	2	339	2	CARD11	7	2951813	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08		2951813	156186850	13	7123											
NXPH1	30010	broad.mit.edu	37	chr7	8791355	8791355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtacagaaagtgtgccctGactacaactaccacagtgac	13	8	9	11	0	0	3	0	2	0	1	0	3	0	3	2	1	5	1	2	1	5	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:8791355G>A	uc003srv.3	+	2	1683	c.772G>A	c.(772-774)Gac>Aac	p.D258N	NXPH1_uc011jxh.2_Missense_Mutation_p.D141N	NM_152745	NP_689958	P58417	NXPH1_HUMAN	Homo sapiens neurexophilin 1 (NXPH1), mRNA.	258	V (Cys-rich).					extracellular region				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|ovary(1)	17		Ovarian(82;0.0628)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		AGTGTGCCCTGACTACAACTA	0.443													A	8791355	G	A	8791355	3	1	106	1	0	0	0	0	1	0	0	0	10866	1290	45	2	778	2	NXPH1	7	8791355	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	5839542	8791355	150347308	14	7124											
ZNF713	349075	broad.mit.edu	37	chr7	56007178	56007178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggccttcagccacaccTcatctcttagccagcctcag	9	8	8	16	0	4	0	3	0	1	0	5	1	4	1	5	2	3	0	5	2	2	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:56007178T>C	uc003tra.2	+	6	1618	c.811T>C	c.(811-813)Tca>Cca	p.S271P	ZNF713_uc003trc.1_Missense_Mutation_p.S258P	NM_182633	NP_872439	Q8N859	ZN713_HUMAN	Homo sapiens zinc finger protein 713 (ZNF713), mRNA.	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGCCACACCTCATCTCTTAG	0.423													C	56007178	T	C	56007178	3	2	106	1	0	0	0	0	1	0	0	0	18218	1551	54	3	786	3	ZNF713	7	56007178	Missense_Mutation	SNP	T	TCGA-06-6698-01A-11D-1845-08	47215823	56007178	103131485	15	7125											
AHCYL2	23382	broad.mit.edu	37	chr7	129062691	129062691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttccaggcgagtctgcGgacaccagaactgacctggg	8	8	14	11	2	1	2	0	1	1	1	2	4	2	3	3	3	2	1	3	3	1	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr7:129062691G>T	uc011kov.2	+	12	1535	c.1472G>T	c.(1471-1473)cGg>cTg	p.R491L	AHCYL2_uc003vot.3_Missense_Mutation_p.R490L|AHCYL2_uc003vov.3_Missense_Mutation_p.R388L|AHCYL2_uc011kox.2_Missense_Mutation_p.R388L	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	491					one-carbon metabolic process		adenosylhomocysteinase activity	p.R491L(2)|p.R388L(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						GCGAGTCTGCGGACACCAGAA	0.507													T	129062691	G	T	129062691	3	4	106	1	0	0	0	0	1	0	0	0	411	1116	39	4	1644	4	AHCYL2	7	129062691	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	73055513	129062691	30075972	16	7126											
TP53INP1	94241	broad.mit.edu	37	chr8	95952365	95952365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgccggtaaacaggaaaAgactgaagggtgctcagtag	15	6	14	6	1	1	3	1	1	0	2	1	4	1	4	1	3	3	3	1	3	6	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:95952365A>G	uc003yhg.3	-	2	580	c.196T>C	c.(196-198)Ttt>Ctt	p.F66L	TP53INP1_uc003yhh.3_Missense_Mutation_p.F66L	NM_033285	NP_150601	Q96A56	T53I1_HUMAN	Homo sapiens tumor protein p53 inducible nuclear protein 1 (TP53INP1), transcript variant 1, mRNA.	66					apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					AAACAGGAAAAGACTGAAGGG	0.463													G	95952365	A	G	95952365	3	3	106	1	0	0	0	0	1	0	0	0	16489	72	3	3	560	3	TP53INP1	8	95952365	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		95952365	50411657	17	7127											
WDR67	93594	broad.mit.edu	37	chr8	124140520	124140521	+	Splice_Site	INS	-	-	T																															aacaccaagttttcttacagINStttttttttcaccatcggaa																										TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:124140520_124140521insT	uc003ypp.2	+	14	1975	c.1885_splice	c.e14-1	p.F629_splice	WDR67_uc011lig.2_Splice_Site_p.F629_splice|WDR67_uc011lih.2_Splice_Site_p.F519_splice|WDR67_uc003ypq.2_Splice_Site|WDR67_uc003yps.2_Intron|WDR67_uc003ypu.2_Splice_Site_p.F86_splice	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	629						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			TTTTCTTACAGTTTTTTTTTCA	0.322													T	124140521	-	T	124140520	8	5	106	1	0	1	1	0	0	0	1	0	17420	1043	36	0	1938	0	WDR67	8	124140520	Splice_Site	INS	-	TCGA-06-6698-01A-11D-1845-08	28188155	124140520	22223502	18	7128											
CYP11B1	1584	broad.mit.edu	37	chr8	143956491	143956491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccctgatgtctagccagCgctgggggttatagcgctca	7	9	13	12	2	2	1	1	1	1	0	2	1	2	1	3	2	4	3	3	2	3	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr8:143956491C>G	uc010mey.3	-	9	1500	c.1493G>C	c.(1492-1494)cGc>cCc	p.R498P	CYP11B1_uc010mex.3_Missense_Mutation_p.R126P|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Missense_Mutation_p.R427P|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	427					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.R427H(1)|p.L497I(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GTCTAGCCAGCGCTGGGGGTT	0.647									Familial Hyperaldosteronism type I				G	143956491	C	G	143956491	3	3	106	1	0	0	0	0	1	0	0	0	4178	768	27	4	239	4	CYP11B1	8	143956491	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	19815971	143956491	2407531	19	7129											
C9orf64	84267	broad.mit.edu	37	chr9	86571236	86571236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaccgcggcctcgtcGgccgccctggggttcagctc	3	8	14	16	5	1	1	1	1	0	0	4	1	1	1	4	4	1	3	4	4	0	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:86571236G>A	uc004anb.3	-	0	428	c.180C>T	c.(178-180)gcC>gcT	p.A60A	C9orf64_uc004anc.3_Intron	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	60										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CGGCCTCGTCGGCCGCCCTGG	0.647													A	86571236	G	A	86571236	2	1	106	1	0	0	0	0	0	0	0	1	2515	1103	39	1		1	C9orf64	9	86571236	Silent	SNP	G	TCGA-06-6698-01A-11D-1845-08		86571236	54642195	20	7130											
SEC16A	9919	broad.mit.edu	37	chr9	139369673	139369673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggactgaagggcctcctcctCtcccattttgggaggattct	6	12	11	12	0	2	1	0	1	2	0	5	4	4	4	4	4	0	0	4	4	1	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr9:139369673C>G	uc004chx.3	-	2	2704	c.2395G>C	c.(2395-2397)Gag>Cag	p.E799Q	SEC16A_uc004chv.4_Missense_Mutation_p.E426Q|SEC16A_uc004chw.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbn.3_Missense_Mutation_p.E799Q|SEC16A_uc010nbo.1_Missense_Mutation_p.E799Q	NM_014866	NP_055681	O15027	SC16A_HUMAN	Homo sapiens SEC16 homolog A (S. cerevisiae) (SEC16A), mRNA.	621					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GCCTCCTCCTCTCCCATTTTG	0.572													G	139369673	C	G	139369673	3	3	106	1	0	0	0	0	1	0	0	0	14079	922	32	4	4798	4	SEC16A	9	139369673	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	52798437	139369673	1843758	21	7131											
RBP3	5949	broad.mit.edu	37	chr10	48389610	48389610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagagtccaccagtgctTgccggatagcctcgtcctca	9	8	9	15	2	1	1	1	0	0	1	4	2	3	2	5	1	3	1	5	1	1	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr10:48389610T>A	uc001jez.3	-	0	1382	c.1268A>T	c.(1267-1269)cAa>cTa	p.Q423L		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	423	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CACCAGTGCTTGCCGGATAGC	0.627													A	48389610	T	A	48389610	3	1	106	1	0	0	0	0	1	0	0	0	13245	1812	63	5	2491	5	RBP3	10	48389610	Missense_Mutation	SNP	T	TCGA-06-6698-01A-11D-1845-08		48389610	87145137	22	7132											
OR51F1	256892	broad.mit.edu	37	chr11	4790374	4790374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatacaccaaggacaggctCagcatgtggatgtagaagaa	15	6	12	8	1	1	2	1	0	0	2	1	5	1	4	1	3	2	3	1	3	5	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:4790374C>T	uc010qyl.2	-	0	774	c.774G>A	c.(772-774)ctG>ctA	p.L258L		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	258						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGGACAGGCTCAGCATGTGGA	0.522													T	4790374	C	T	4790374	2	4	106	1	0	0	0	0	0	0	0	1	11172	813	29	2		2	OR51F1	11	4790374	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		4790374	130216142	23	7133											
SLC22A25	387601	broad.mit.edu	37	chr11	62985164	62985164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacaggtgcctacaatggCgagctggaggtaagaccatc	11	6	13	11	2	0	1	0	0	0	1	1	3	0	2	2	4	3	3	2	4	3	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:62985164C>T	uc001nwr.1	-	2	550	c.550G>A	c.(550-552)Gcc>Acc	p.A184T	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Intron|SLC22A25_uc001nwt.1_Missense_Mutation_p.A184T	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	184					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CCTACAATGGCGAGCTGGAGG	0.488													T	62985164	C	T	62985164	3	4	106	1	0	0	0	0	1	0	0	0	14548	768	27	1	1121	1	SLC22A25	11	62985164	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	58194790	62985164	72021352	24	7134											
NLRX1	79671	broad.mit.edu	37	chr11	119052983	119052983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctgaacgtggcgtacaaCggtgctggtgacacagcggc	9	6	16	10	4	0	2	0	2	0	0	0	3	0	2	0	4	6	3	0	4	3	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:119052983C>T	uc001pvu.3	+	8	2750	c.2535C>T	c.(2533-2535)aaC>aaT	p.N845N	NLRX1_uc001pvv.3_Silent_p.N845N|NLRX1_uc001pvw.3_Silent_p.N845N|NLRX1_uc001pvx.3_Silent_p.N845N	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	845	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGCGTACAACGGTGCTGGTG	0.677													T	119052983	C	T	119052983	2	4	106	1	0	0	0	0	0	0	0	1	10561	535	19	1		1	NLRX1	11	119052983	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	56067819	119052983	15953533	25	7135											
ARHGEF12	23365	broad.mit.edu	37	chr11	120352059	120352059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaccctgcagcccatgaCaggcatccctgctgtggaat	9	9	9	14	0	0	1	0	1	0	0	1	2	1	2	3	2	4	3	3	2	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr11:120352059C>T	uc001pxl.2	+	38	4663	c.4328C>T	c.(4327-4329)aCa>aTa	p.T1443I	ARHGEF12_uc009zat.3_Missense_Mutation_p.T1424I|ARHGEF12_uc009zau.1_Missense_Mutation_p.T1340I	NM_015313	NP_056128	Q9NZN5	ARHGC_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 12 (ARHGEF12), transcript variant 1, mRNA.	1443					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGCCCATGACAGGCATCCCT	0.512			T	MLL	AML								T	120352059	C	T	120352059	3	4	106	1	0	0	0	0	1	0	0	0	900	478	17	2	4482	2	ARHGEF12	11	120352059	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	1299076	120352059	14654457	26	7136											
C1QL4	338761	broad.mit.edu	37	chr12	49726939	49726939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagacctcgtcgcccacGtccaggtgcagaatgacgct	10	7	11	13	4	0	4	0	2	0	2	3	4	1	4	3	1	1	2	3	1	2	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr12:49726939G>A	uc001rtz.1	-	1	1326	c.615C>T	c.(613-615)gaC>gaT	p.D205D		NM_001008223	NP_001008224	Q86Z23	C1QL4_HUMAN	Homo sapiens complement component 1, q subcomponent-like 4 (C1QL4), mRNA.	205	C1q.					collagen				large_intestine(2)|lung(1)|ovary(1)|skin(1)	5						CGTCGCCCACGTCCAGGTGCA	0.597													A	49726939	G	A	49726939	2	1	106	1	0	0	0	0	0	0	0	1	1981	1136	40	1		1	C1QL4	12	49726939	Silent	SNP	G	TCGA-06-6698-01A-11D-1845-08		49726939	84124956	27	7137											
NHLRC3	387921	broad.mit.edu	37	chr13	39613426	39613426	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattggtttacataggtcaaGtaagtaaatagagatttaaa	17	13	9	2	0	1	1	1	0	0	1	1	3	1	1	0	2	1	3	0	2	9	9			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:39613426G>A	uc001uxc.3	+	2	559	c.237_splice	c.e2+1	p.Q79_splice	PROSER1_uc001uwy.3_5'Flank|PROSER1_uc001uwz.3_5'Flank|NHLRC3_uc001uxd.3_Splice_Site_p.Q79_splice|NHLRC3_uc001uxe.3_Splice_Site	NM_001012754	NP_001012772	Q5JS37	NHLC3_HUMAN	Homo sapiens NHL repeat containing 3 (NHLRC3), transcript variant 1, mRNA.	79						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		CATAGGTCAAGTAAGTAAATA	0.388													A	39613426	G	A	39613426	5	1	106	1	0	0	0	0	0	0	1	0	10483	1043	36	2	244	2	NHLRC3	13	39613426	Splice_Site	SNP	G	TCGA-06-6698-01A-11D-1845-08		39613426	75556452	28	7138											
RB1	5925	broad.mit.edu	37	chr13	48916734	48916734	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctttattttttgttcccaGggaggttatattcaaaagaa	12	17	7	5	0	2	1	1	0	1	1	3	2	3	2	1	2	0	2	1	2	6	9			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48916734G>A	uc001vcb.3	+	3	431	c.265_splice	c.e3-1	p.G89_splice	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	89					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTGTTCCCAGGGAGGTTATA	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	48916734	G	A	48916734	5	1	106	1	0	0	0	0	0	0	1	0	13186	1014	35	2	274	2	RB1	13	48916734	Splice_Site	SNP	G	TCGA-06-6698-01A-11D-1845-08	9303308	48916734	66253144	29	7139											
RB1	5925	broad.mit.edu	37	chr13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ttttctttcaaggttgaaaaTctttctaaacgatacgaaga																										TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr13:48941638_48941641delTCTT	uc001vcb.3	+	9	1114_1117	c.948_951delTCTT	c.(946-951)aatcttfs	p.N316fs	RB1_uc010act.1_Frame_Shift_Del_p.N17fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48941641	TCTT	-	48941638	7	5	106	1	0	1	0	1	0	0	0	0	13186	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-06-6698-01A-11D-1845-08	24904	48941638	66228240	30	7140											
MTA1	9112	broad.mit.edu	37	chr14	105936268	105936268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccccagtcaagcggCggcggatgaactggatcgac	8	5	13	15	4	1	1	1	1	0	0	2	4	1	3	3	4	3	0	3	4	2	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr14:105936268C>T	uc001yqx.3	+	19	2123	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	MTA1_uc001yqy.3_3'UTR|MTA1_uc021seq.1_Missense_Mutation_p.R634W|MTA1_uc001yrb.3_Missense_Mutation_p.R411W	NM_004689	NP_004680	Q13330	MTA1_HUMAN	Homo sapiens metastasis associated 1 (MTA1), transcript variant 1, mRNA.	646					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		AGTCAAGCGGCGGCGGATGAA	0.677													T	105936268	C	T	105936268	3	4	106	1	0	0	0	0	1	0	0	0	9984	759	27	1	2014	1	MTA1	14	105936268	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		105936268	1413272	31	7141											
TSC2	7249	broad.mit.edu	37	chr16	2134716	2134716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccaggcatcaaccccaGgtgggcctcttgcttccggg	6	8	13	14	1	2	0	1	0	1	0	3	0	3	0	5	4	3	2	5	4	1	2	rs137854099		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:2134716G>A	uc002con.3	+	34	4599	c.4493_splice	c.e34+1	p.S1498_splice	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Splice_Site_p.S1475_splice|TSC2_uc002coo.3_Splice_Site_p.S1431_splice|TSC2_uc010uvv.2_Splice_Site_p.S1395_splice|TSC2_uc010uvw.2_Splice_Site_p.S1383_splice|TSC2_uc002cop.3_Splice_Site_p.S1254_splice|TSC2_uc002coq.3_Splice_Site_p.S273_splice	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1498			S -> N (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ATCAACCCCAGGTGGGCCTCT	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	2134716	G	A	2134716	3	1	106	1	0	0	0	0	1	0	0	0	16707	1014	35	2	4623	2	TSC2	16	2134716	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08		2134716	88220037	32	7142											
GRIN2A	2903	broad.mit.edu	37	chr16	9862916	9862916	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtggcagatcccagtgAgccacagggtctccagctcc	7	8	12	14	1	1	2	0	1	1	1	4	2	3	2	4	2	2	3	4	2	0	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:9862916A>T	uc010uym.2	-	12	2697	c.2387T>A	c.(2386-2388)cTc>cAc	p.L796H	GRIN2A_uc002czo.4_Missense_Mutation_p.L796H|GRIN2A_uc010uyn.2_Missense_Mutation_p.L639H|GRIN2A_uc002czr.4_Missense_Mutation_p.L796H	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	796					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATCCCAGTGAGCCACAGGGT	0.567													T	9862916	A	T	9862916	3	4	106	1	0	0	0	0	1	0	0	0	6834	304	11	5	2015	5	GRIN2A	16	9862916	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08	7728200	9862916	80491837	33	7143											
IL4R	3566	broad.mit.edu	37	chr16	27373977	27373977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcatgccttcttccacCttcgggaagtacgagtgctc	7	11	11	12	2	2	0	1	0	1	0	5	3	3	2	3	2	3	2	3	2	2	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:27373977C>G	uc002don.3	+	10	1546	c.1304C>G	c.(1303-1305)cCt>cGt	p.P435R	IL4R_uc002dop.4_Missense_Mutation_p.P420R|IL4R_uc010bxy.3_Missense_Mutation_p.P435R|IL4R_uc002doo.3_Missense_Mutation_p.P275R	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	435					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTTCTTCCACCTTCGGGAAGT	0.612													G	27373977	C	G	27373977	3	3	106	1	0	0	0	0	1	0	0	0	7756	681	24	4	1356	4	IL4R	16	27373977	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	17511061	27373977	62980776	34	7144											
CDH8	1006	broad.mit.edu	37	chr16	61689535	61689535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgctcagtggaggatttCcactatcactgattatgatt	9	15	9	8	0	2	2	2	2	0	0	3	4	3	4	1	2	2	2	1	2	2	4			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr16:61689535C>A	uc002eog.2	-	10	2700	c.1745G>T	c.(1744-1746)gGa>gTa	p.G582V		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	582	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TGGAGGATTTCCACTATCACT	0.438													A	61689535	C	A	61689535	3	1	106	1	0	0	0	0	1	0	0	0	3146	855	30	4	662	4	CDH8	16	61689535	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	34315558	61689535	28665218	35	7145											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	106	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		7578406	73616804	36	7146											
NF1	4763	broad.mit.edu	37	chr17	29661898	29661898	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggaatacatgactccatGgctgtcaaatctagttcgtt	10	15	8	8	1	2	1	1	1	1	0	4	2	3	2	1	2	1	3	1	2	4	5			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:29661898G>A	uc002hgg.3	+	39	6238	c.5855G>A	c.(5854-5856)tGg>tAg	p.W1952*	NF1_uc002hgh.3_Nonsense_Mutation_p.W1931*|NF1_uc010cso.3_Nonsense_Mutation_p.W140*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1952			W -> R (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.M1949fs*2(1)|p.P1951fs*6(1)|p.P1951L(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGACTCCATGGCTGTCAAAT	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29661898	G	A	29661898	4	1	106	1	0	0	0	0	0	1	0	0	10432	1357	47	2	6074	2	NF1	17	29661898	Nonsense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	22083492	29661898	51533312	37	7147											
EFTUD2	9343	broad.mit.edu	37	chr17	42942379	42942379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctccttcgtcaggtGgatgccaagctcgtctaggg	6	10	12	13	2	2	0	1	0	1	0	6	1	4	1	3	3	3	2	3	3	2	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:42942379G>A	uc002ihn.2	-	13	1465	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	EFTUD2_uc010wje.1_Missense_Mutation_p.H367Y|EFTUD2_uc010wjf.1_Missense_Mutation_p.H392Y	NM_004247	NP_001136077	Q15029	U5S1_HUMAN	Homo sapiens elongation factor Tu GTP binding domain containing 2 (EFTUD2), transcript variant 1, mRNA.	402						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				TTCGTCAGGTGGATGCCAAGC	0.557											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	42942379	G	A	42942379	3	1	106	1	0	0	0	0	1	0	0	0	5000	1348	47	2	1774	2	EFTUD2	17	42942379	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	13280481	42942379	38252831	38	7148											
LPO	4025	broad.mit.edu	37	chr17	56344837	56344837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgggacccctgacaacatCgacatctggataggggccat	11	7	11	12	2	1	1	0	1	1	0	2	4	1	3	3	4	2	0	3	4	3	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr17:56344837C>T	uc002ivt.3	+	11	2137	c.1821C>T	c.(1819-1821)atC>atT	p.I607I	LPO_uc010wns.2_Silent_p.I548I|LPO_uc010dcp.3_Silent_p.I524I|LPO_uc010dcq.3_Silent_p.I278I|LPO_uc010dcr.3_Silent_p.I170I	NM_006151	NP_006142	P22079	PERL_HUMAN	Homo sapiens lactoperoxidase (LPO), transcript variant 1, mRNA.	607					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CTGACAACATCGACATCTGGA	0.587													T	56344837	C	T	56344837	2	4	106	1	0	0	0	0	0	0	0	1	8992	874	31	1		1	LPO	17	56344837	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	13402458	56344837	24850373	39	7149											
ALPK2	115701	broad.mit.edu	37	chr18	56203541	56203541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgtgagccaatgctgctAtttcagagggggccaattca	10	10	12	9	0	2	2	2	1	0	1	2	3	2	2	2	2	3	2	2	2	3	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:56203541A>G	uc002lhj.4	-	4	4092	c.3878T>C	c.(3877-3879)aTa>aCa	p.I1293T	ALPK2_uc002lhk.1_Missense_Mutation_p.I624T	NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	1293							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAATGCTGCTATTTCAGAGGG	0.507													G	56203541	A	G	56203541	3	3	106	1	0	0	0	0	1	0	0	0	545	449	16	3	2670	3	ALPK2	18	56203541	Missense_Mutation	SNP	A	TCGA-06-6698-01A-11D-1845-08		56203541	21873707	40	7150											
SERPINB7	8710	broad.mit.edu	37	chr18	61471670	61471670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggattgcttcggggggtcGtctgtatatatcaaggatga	8	13	15	5	2	2	1	1	1	1	0	4	3	2	3	0	5	1	2	0	5	4	5			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:61471670G>A	uc002ljl.3	+	7	1040	c.944G>A	c.(943-945)cGt>cAt	p.R315H	SERPINB7_uc002ljm.3_Missense_Mutation_p.R315H|SERPINB7_uc010xet.2_Missense_Mutation_p.R298H|SERPINB7_uc010dqg.3_Missense_Mutation_p.R315H	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	315					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity	p.R315H(2)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCGGGGGGTCGTCTGTATATA	0.428													A	61471670	G	A	61471670	3	1	106	1	0	0	0	0	1	0	0	0	14199	1145	40	1	970	1	SERPINB7	18	61471670	Missense_Mutation	SNP	G	TCGA-06-6698-01A-11D-1845-08	5268129	61471670	16605578	41	7151											
KCNG2	26251	broad.mit.edu	37	chr18	77624159	77624159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccggcggcgcctgcgCgacgtggtggacaacccgca	5	3	17	16	9	0	0	0	0	0	0	0	2	0	1	3	5	2	1	3	5	1	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr18:77624159C>T	uc010xfl.2	+	0	492	c.492C>T	c.(490-492)cgC>cgT	p.R164R		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	164					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		ggcgccTGCGCGACGTGGTGG	0.796													T	77624159	C	T	77624159	2	4	106	1	0	0	0	0	0	0	0	1	8086	755	27	1		1	KCNG2	18	77624159	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	16152489	77624159	453089	42	7152											
CD209	30835	broad.mit.edu	37	chr19	7812212	7812212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctaagctcttgtatcctCgagtctgtcggaatccaagg	8	12	10	11	2	2	0	0	0	2	0	6	2	4	1	2	2	2	3	2	2	4	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:7812212C>T	uc002mht.2	-	1	153	c.86G>A	c.(85-87)cGa>cAa	p.R29Q	CD209_uc010xju.1_Missense_Mutation_p.R29Q|CD209_uc010dvp.2_Missense_Mutation_p.R29Q|CD209_uc002mhr.2_Missense_Mutation_p.R29Q|CD209_uc002mhs.2_Missense_Mutation_p.R29Q|CD209_uc002mhu.2_Missense_Mutation_p.R29Q|CD209_uc010dvq.2_Missense_Mutation_p.R29Q|CD209_uc002mhq.2_Missense_Mutation_p.R29Q|CD209_uc002mhv.2_Missense_Mutation_p.R29Q|CD209_uc002mhx.2_Intron|CD209_uc002mhw.2_Intron|CD209_uc010dvr.2_Missense_Mutation_p.R29Q	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	29					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.R29R(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTGTATCCTCGAGTCTGTCG	0.577													T	7812212	C	T	7812212	3	4	106	1	0	0	0	0	1	0	0	0	3014	884	31	1	1152	1	CD209	19	7812212	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		7812212	51316771	43	7153											
IGFL1	374918	broad.mit.edu	37	chr19	46733408	46733408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctcctctgctcacaCggagccccaggtgagcccag	7	6	11	17	1	2	1	1	1	1	0	4	2	4	2	5	3	3	2	5	3	0	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:46733408C>T	uc002pee.3	+	1	92	c.69C>T	c.(67-69)caC>caT	p.H23H		NM_198541	NP_940943	Q6UW32	IGFL1_HUMAN	Homo sapiens IGF-like family member 1 (IGFL1), mRNA.	23						extracellular space	protein binding			lung(5)	5		Ovarian(192;0.0731)|all_neural(266;0.196)		OV - Ovarian serous cystadenocarcinoma(262;0.00242)|all cancers(93;0.0132)|GBM - Glioblastoma multiforme(486;0.0294)|Epithelial(262;0.201)		TCTGCTCACACGGAGCCCCAG	0.597													T	46733408	C	T	46733408	2	4	106	1	0	0	0	0	0	0	0	1	7644	535	19	1		1	IGFL1	19	46733408	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08	38921196	46733408	12395575	44	7154											
KLK6	5653	broad.mit.edu	37	chr19	51462532	51462532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccccatgacacaaggcctCggaggtggtctccacatacc	10	7	9	15	1	1	1	0	1	1	0	3	2	1	2	5	4	2	0	5	4	3	2			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr19:51462532C>T	uc002puh.3	-	4	715	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	KLK6_uc010eoj.3_Missense_Mutation_p.E80K|KLK6_uc002pui.3_Missense_Mutation_p.R208Q|KLK6_uc002puj.3_Missense_Mutation_p.R101Q|KLK6_uc010ycn.2_Missense_Mutation_p.R101Q|KLK6_uc002pul.3_Missense_Mutation_p.R208Q|KLK6_uc002pum.3_Missense_Mutation_p.R101Q	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	208	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity	p.P217H(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		CACAAGGCCTCGGAGGTGGTC	0.512													T	51462532	C	T	51462532	3	4	106	1	0	0	0	0	1	0	0	0	8466	884	31	1	115	1	KLK6	19	51462532	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08	4729124	51462532	7666451	45	7155											
TSHZ2	128553	broad.mit.edu	37	chr20	51870294	51870294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggacatcaagagtgtctgCggcagagatgcctcagacaa	12	7	12	10	2	3	3	2	0	1	3	4	5	3	4	1	2	2	1	1	2	2	0			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr20:51870294C>T	uc002xwo.3	+	1	1184	c.297C>T	c.(295-297)tgC>tgT	p.C99C	TSHZ2_uc021wex.1_Silent_p.C96C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	99					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGAGTGTCTGCGGCAGAGATG	0.512													T	51870294	C	T	51870294	2	4	106	1	0	0	0	0	0	0	0	1	16725	776	27	1		1	TSHZ2	20	51870294	Silent	SNP	C	TCGA-06-6698-01A-11D-1845-08		51870294	11155226	46	7156											
RRP1B	23076	broad.mit.edu	37	chr21	45092195	45092195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgcctctgcaggaagagCtcgccaacaccattgcacag	10	5	9	17	2	1	1	0	0	1	1	2	2	1	2	5	1	4	3	5	1	2	1			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chr21:45092195C>A	uc002zdk.3	+	2	334	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	74					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		GCAGGAAGAGCTCGCCAACAC	0.552													A	45092195	C	A	45092195	3	1	106	1	0	0	0	0	1	0	0	0	13779	797	28	4	230	4	RRP1B	21	45092195	Missense_Mutation	SNP	C	TCGA-06-6698-01A-11D-1845-08		45092195	3037700	47	7157											
MAGT1	84061	broad.mit.edu	37	chrX	77109426	77109426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacaatgtgtgtttcagcTacaaactgggcttgactgct	11	12	10	8	0	1	2	1	1	0	1	1	2	1	2	0	1	5	4	0	1	4	3			TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:77109426T>C	uc004fof.3	-	6	956	c.894A>G	c.(892-894)gtA>gtG	p.V298V	MAGT1_uc004fog.4_Intron	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	266					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						GTGTTTCAGCTACAAACTGGG	0.348													C	77109426	T	C	77109426	2	2	106	1	0	0	0	0	0	0	0	1	9271	1509	53	3		3	MAGT1	23	77109426	Silent	SNP	T	TCGA-06-6698-01A-11D-1845-08		77109426	78161134	48	7158											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-																															aagccgtgtacgttgaacccGctgctgctgctgctgctgct																										TCGA-06-6698-01A-11D-1845-08	TCGA-06-6698-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d605a279-c0ea-467c-a423-cdf21547f87e	a2fc6ff0-c986-4828-9afa-b8917ed37851	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													-	150817144	GCT	-	150817142	7	5	106	1	0	1	0	1	0	0	0	0	11547	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-06-6698-01A-11D-1845-08	73707716	150817142	4453418	49	7159											
CDCP2	200008	broad.mit.edu	37	chr1	54605749	54605749	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctggagaagttgcccCgcatggccatgtatacctcc	7	9	13	12	1	0	1	0	0	0	1	1	2	1	1	5	3	2	4	5	3	3	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:54605749C>A	uc001cwv.1	-	3	1642	c.794G>T	c.(793-795)cGg>cTg	p.R265L		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	265	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GAAGTTGCCCCGCATGGCCAT	0.602													A	54605749	C	A	54605749	3	1	107	1	0	0	0	0	1	0	0	0	3124	652	23	4	559	4	CDCP2	1	54605749	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		54605749	194644872	1	7160											
GPR137B	7107	broad.mit.edu	37	chr1	236343286	236343286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattttctcagaacaagagCgtccattcctttgattatga	11	15	6	9	1	2	4	2	2	1	2	5	4	4	4	2	0	2	0	2	0	3	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr1:236343286C>T	uc001hxq.3	+	3	886	c.795C>T	c.(793-795)agC>agT	p.S265S		NM_003272	NP_003263	O60478	G137B_HUMAN	Homo sapiens G protein-coupled receptor 137B (GPR137B), mRNA.	265						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			AGAACAAGAGCGTCCATTCCT	0.527													T	236343286	C	T	236343286	2	4	107	1	0	0	0	0	0	0	0	1	6700	767	27	1		1	GPR137B	1	236343286	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	181737537	236343286	12907335	2	7161											
IHH	3549	broad.mit.edu	37	chr2	219920384	219920384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtggggggtcctgagtctCgatgacctggaaggctctca	6	9	16	10	2	2	2	1	2	2	0	5	4	3	3	2	5	0	1	2	5	1	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr2:219920384C>T	uc002vjo.2	-	2	830	c.781G>A	c.(781-783)Gag>Aag	p.E261K		NM_002181	NP_002172	Q14623	IHH_HUMAN	Homo sapiens Indian hedgehog (IHH), mRNA.	261					cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTGAGTCTCGATGACCTGG	0.647													T	219920384	C	T	219920384	3	4	107	1	0	0	0	0	1	0	0	0	7665	893	31	1	458	1	IHH	2	219920384	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		219920384	23278989	3	7162											
PCYT1A	5130	broad.mit.edu	37	chr3	195965686	195965686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggagggggagcgctcgCgagtagggctgctgctgggg	5	5	24	7	3	0	0	0	0	0	0	1	3	0	2	0	7	3	5	0	7	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr3:195965686C>T	uc003fwg.3	-	9	1150	c.977G>A	c.(976-978)cGc>cAc	p.R326H	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Missense_Mutation_p.R326H	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	326	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	GGAGCGCTCGCGAGTAGGGCT	0.607													T	195965686	C	T	195965686	3	4	107	1	0	0	0	0	1	0	0	0	11686	768	27	1	130	1	PCYT1A	3	195965686	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		195965686	2056744	4	7163											
TLR10	81793	broad.mit.edu	37	chr4	38777038	38777038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctggagttgaaaaaggagGttataggataaatccagtgt	14	11	12	4	0	1	1	0	1	1	0	2	4	2	4	1	4	0	2	1	4	6	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:38777038G>T	uc003gtj.3	-	3	812	c.174C>A	c.(172-174)aaC>aaA	p.N58K	TLR10_uc021xnk.1_Missense_Mutation_p.N44K|TLR10_uc003gti.3_Missense_Mutation_p.N58K|TLR10_uc021xnl.1_Missense_Mutation_p.N58K|TLR10_uc003gtk.3_Missense_Mutation_p.N58K|TLR10_uc021xnm.1_Missense_Mutation_p.N58K	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	58					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GAAAAAGGAGGTTATAGGATA	0.428													T	38777038	G	T	38777038	3	4	107	1	0	0	0	0	1	0	0	0	16050	1252	44	4	2265	4	TLR10	4	38777038	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		38777038	152377238	5	7164											
PDS5A	23244	broad.mit.edu	37	chr4	39839671	39839671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattcagacttgggtcgaCgtcctctcctgggtttggaa	7	12	13	9	2	2	2	1	0	1	2	5	5	3	3	2	3	0	1	2	3	1	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:39839671C>T	uc003guv.4	-	31	4355	c.3815G>A	c.(3814-3816)cGt>cAt	p.R1272H		NM_001100399	NP_001093869	Q29RF7	PDS5A_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae) (PDS5A), transcript variant 1, mRNA.	1272					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTGGGTCGACGTCCTCTCCT	0.473													T	39839671	C	T	39839671	3	4	107	1	0	0	0	0	1	0	0	0	11767	536	19	1	206	1	PDS5A	4	39839671	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	1062633	39839671	151314605	6	7165											
DCHS2	54798	broad.mit.edu	37	chr4	155157533	155157533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgttatcatccaggacactGacaaacacaactgcaaaaga	17	7	6	11	1	1	2	1	1	0	1	3	3	2	3	1	1	3	2	1	1	5	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:155157533G>A	uc003inw.2	-	24	6906	c.6906C>T	c.(6904-6906)gtC>gtT	p.V2302V		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	2302	Cadherin 20.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CCAGGACACTGACAAACACAA	0.373													A	155157533	G	A	155157533	2	1	107	1	0	0	0	0	0	0	0	1	4322	1277	45	2		2	DCHS2	4	155157533	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	115317862	155157533	35996743	7	7166											
ANP32C	23520	broad.mit.edu	37	chr4	165118560	165118560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactgtttcagtggctctaTtgtgctgaggtctttaattt	7	19	9	6	0	3	1	1	1	2	0	3	1	3	1	0	2	2	3	0	2	3	7			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr4:165118560T>C	uc011cjk.2	-	0	304	c.304A>G	c.(304-306)Ata>Gta	p.I102V	MARCH1_uc003iqs.2_Intron	NM_012403	NP_036535	O43423	AN32C_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member C (ANP32C), mRNA.	102										NS(2)|breast(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(3)|skin(4)	35	all_hematologic(180;0.203)	Prostate(90;0.0138)|Melanoma(52;0.18)|all_neural(102;0.223)		KIRC - Kidney renal clear cell carcinoma(143;0.242)		AGTGGCTCTATTGTGCTGAGG	0.428													C	165118560	T	C	165118560	3	2	107	1	0	0	0	0	1	0	0	0	707	1493	52	3	403	3	ANP32C	4	165118560	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	9961027	165118560	26035716	8	7167											
PLEKHG4B	153478	broad.mit.edu	37	chr5	162950	162950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcagaggccttcccCggggcaggtgtggcagtgct	4	8	18	11	1	0	1	0	0	0	1	1	1	1	1	3	6	2	5	3	6	0	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:162950C>T	uc003jak.2	+	10	1745	c.1695C>T	c.(1693-1695)ccC>ccT	p.P565P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	565					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGGCCTTCCCCGGGGCAGGTG	0.667													T	162950	C	T	162950	2	4	107	1	0	0	0	0	0	0	0	1	12149	639	23	1		1	PLEKHG4B	5	162950	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		162950	180752310	9	7168											
KLHL3	26249	broad.mit.edu	37	chr5	137045486	137045486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggctgccaggaccacaCggtgggcttctatctcgaca	8	8	12	13	2	2	0	0	0	2	0	3	2	2	1	2	4	2	3	2	4	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:137045486C>T	uc010jek.3	-	2	638	c.194G>A	c.(193-195)cGt>cAt	p.R65H	MYOT_uc011cye.2_Intron|KLHL3_uc010jem.1_Missense_Mutation_p.R25H	NM_017415	NP_059111	Q9UH77	KLHL3_HUMAN	Homo sapiens kelch-like 3 (Drosophila) (KLHL3), mRNA.	65	BTB.					cytoplasm|cytoskeleton	actin binding|structural molecule activity	p.R65H(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		CAGGACCACACGGTGGGCTTC	0.547													T	137045486	C	T	137045486	3	4	107	1	0	0	0	0	1	0	0	0	8441	536	19	1	1621	1	KLHL3	5	137045486	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	136882536	137045486	43869774	10	7169											
PCDHAC2	56144	broad.mit.edu	37	chr5	140188686	140188686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaacgcgtgccctggaCgaaacggacgctccgcgcca	10	3	12	16	7	0	0	0	0	0	0	1	3	1	2	3	2	4	2	3	2	2	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140188686C>T	uc003lhi.2	+	0	2015	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677													T	140188686	C	T	140188686	2	4	107	1	0	0	0	0	0	0	0	1	11609	535	19	1		1	PCDHAC2	5	140188686	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	3143200	140188686	40726574	11	7170											
PCDHGC5	56111	broad.mit.edu	37	chr5	140736994	140736994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcgcactttgtgggcGtggacggggttcgggctttc	2	12	16	11	4	0	0	0	0	0	0	3	1	0	1	1	5	1	3	1	5	0	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr5:140736994G>A	uc003ljq.2	+	0	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljs.2_5'Flank|PCDHGC5_uc003ljp.1_Missense_Mutation_p.V743M|PCDHGC5_uc011dar.2_5'Flank	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	753					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGACGGGGT	0.617													A	140736994	G	A	140736994	3	1	107	1	0	0	0	0	1	0	0	0	11647	1145	40	1		1	PCDHGC5	5	140736994	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	548308	140736994	40178266	12	7171											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405652	33405652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggctgtccgtgccctgCggctgcatctgtaccgtgac	3	10	13	15	4	1	1	0	1	1	0	2	1	2	1	4	2	5	4	4	2	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:33405652C>T	uc011dri.2	+	7	1165	c.970C>T	c.(970-972)Cgg>Tgg	p.R324W	SYNGAP1_uc003oeo.1_Missense_Mutation_p.R309W|SYNGAP1_uc010juy.3_Missense_Mutation_p.R309W|SYNGAP1_uc010juz.3_Missense_Mutation_p.R36W	NM_006772	NP_006763	Q96PV0	SYGP1_HUMAN	Homo sapiens synaptic Ras GTPase activating protein 1 (SYNGAP1), mRNA.	324	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCGTGCCCTGCGGCTGCATCT	0.627													T	33405652	C	T	33405652	3	4	107	1	0	0	0	0	1	0	0	0	15544	759	27	1	1000	1	SYNGAP1	6	33405652	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		33405652	137709415	13	7172											
ABCC10	89845	broad.mit.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	8	10	10	13	2	0	0	0	0	0	0	4	3	3	2	5	3	1	1	5	3	1	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:43403588C>T	uc003ouy.1	+	4	1923	c.1708C>T	c.(1708-1710)Cgg>Tgg	p.R570W	ABCC10_uc003ouz.1_Missense_Mutation_p.R527W|ABCC10_uc010jyo.1_5'UTR	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	570						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													T	43403588	C	T	43403588	3	4	107	1	0	0	0	0	1	0	0	0	50	643	23	1	1589	1	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	9997936	43403588	127711479	14	7173											
TFAP2D	83741	broad.mit.edu	37	chr6	50696975	50696975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttggcttaaacttaccagCaggaagacggaaagcagcta	14	7	11	9	1	0	1	0	0	0	1	0	3	0	3	1	3	5	5	1	3	6	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:50696975C>T	uc003paf.3	+	4	1345	c.833C>T	c.(832-834)gCa>gTa	p.A278V	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	278							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AACTTACCAGCAGGAAGACGG	0.423													T	50696975	C	T	50696975	3	4	107	1	0	0	0	0	1	0	0	0	15890	710	25	2	851	2	TFAP2D	6	50696975	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	7293387	50696975	120418092	15	7174											
SIM1	6492	broad.mit.edu	37	chr6	100901684	100901684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacgttgtccagggggCtggtccgacttgagtggccc	5	8	16	12	2	0	1	0	1	0	0	2	2	2	1	4	5	1	2	4	5	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:100901684C>T	uc003pqj.4	-	1	679	c.212G>A	c.(211-213)aGc>aAc	p.S71N	SIM1_uc021zdg.1_Missense_Mutation_p.S71N|SIM1_uc010kcu.3_Missense_Mutation_p.S71N	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	71					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCCAGGGGGCTGGTCCGACT	0.612													T	100901684	C	T	100901684	3	4	107	1	0	0	0	0	1	0	0	0	14417	797	28	2	2128	2	SIM1	6	100901684	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	50204709	100901684	70213383	16	7175											
ZBTB24	9841	broad.mit.edu	37	chr6	109787239	109787239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttggacagagtgatcaCgtgcactggctctgtttgtg	6	14	12	9	1	2	2	1	1	1	1	3	3	3	3	1	2	1	3	1	2	0	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:109787239C>T	uc003ptl.1	-	6	2077	c.1909G>A	c.(1909-1911)Gtg>Atg	p.V637M	MICAL1_uc011eaq.2_5'Flank|ZBTB24_uc011ear.1_Non-coding_Transcript|ZBTB24_uc010kds.1_Missense_Mutation_p.V581M|ZBTB24_uc010kdt.1_Non-coding_Transcript	NM_014797	NP_055612	O43167	ZBT24_HUMAN	Homo sapiens zinc finger and BTB domain containing 24 (ZBTB24), transcript variant 1, mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.V637M(2)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		AGAGTGATCACGTGCACTGGC	0.458													T	109787239	C	T	109787239	3	4	107	1	0	0	0	0	1	0	0	0	17632	536	19	1	188	1	ZBTB24	6	109787239	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	8885555	109787239	61327828	17	7176											
PARK2	5071	broad.mit.edu	37	chr6	161771139	161771139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccgccctggctacacgtCgaaccagtggtcccccatgc	6	6	11	18	4	0	0	0	0	0	0	2	1	1	0	5	3	3	1	5	3	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr6:161771139C>T	uc021zhu.1	-	12	1622	c.1531G>A	c.(1531-1533)Gac>Aac	p.D511N	PARK2_uc003qtv.4_Non-coding_Transcript|PARK2_uc003qtw.4_3'UTR|PARK2_uc010kkd.3_Missense_Mutation_p.D273N|PARK2_uc003qtx.4_Missense_Mutation_p.D464N|PARK2_uc021zhs.1_Missense_Mutation_p.D386N|PARK2_uc021zht.1_Non-coding_Transcript|PARK2_uc003qty.4_Missense_Mutation_p.D436N|PARK2_uc003qtz.4_Missense_Mutation_p.D315N|PARK2_uc021zhv.1_Missense_Mutation_p.D385N|PARK2_uc021zhw.1_Missense_Mutation_p.D273N|PARK2_uc021zhx.1_Non-coding_Transcript|PARK2_uc021zhy.1_Missense_Mutation_p.D414N|PARK2_uc011egf.2_Missense_Mutation_p.D138N	NM_004562	NP_004553	O60260	PRKN2_HUMAN	Homo sapiens parkinson protein 2, E3 ubiquitin protein ligase (parkin) (PARK2), transcript variant 1, mRNA.	464					aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGCTACACGTCGAACCAGTGG	0.592													T	161771139	C	T	161771139	3	4	107	1	0	0	0	0	1	0	0	0	11525	884	31	1	11	1	PARK2	6	161771139	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	51983900	161771139	9343928	18	7177											
PMS2	5395	broad.mit.edu	37	chr7	6027045	6027045	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctagaagacagcataccccTtttctgtcctagagggctcc	9	10	9	13	0	1	3	0	0	1	3	3	3	3	3	4	1	2	3	4	1	4	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:6027045T>C	uc003spl.3	-	10	1438	c.1351A>G	c.(1351-1353)Agg>Ggg	p.R451G	PMS2_uc003spj.3_Missense_Mutation_p.R345G|PMS2_uc003spk.3_Missense_Mutation_p.R316G|PMS2_uc011jwl.2_Missense_Mutation_p.R316G|PMS2_uc010ktg.3_Missense_Mutation_p.R140G|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.R451G	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	451					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGCATACCCCTTTTCTGTCCT	0.532			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	6027045	T	C	6027045	3	2	107	1	0	0	0	0	1	0	0	0	12220	1608	56	3	1257	3	PMS2	7	6027045	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08		6027045	153111618	19	7178											
MLXIPL	51085	broad.mit.edu	37	chr7	73010591	73010591	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagatgtgtgtgatacgCcggttctcggtctcggggag	5	10	18	8	5	2	2	0	1	2	1	4	4	2	3	1	5	1	1	1	5	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:73010591C>A	uc003tyn.1	-	12	1998	c.1950G>T	c.(1948-1950)cgG>cgT	p.R650R	MLXIPL_uc003tyj.1_Silent_p.R29R|MLXIPL_uc003tyk.1_Silent_p.R648R|MLXIPL_uc003tym.1_Silent_p.R650R|MLXIPL_uc003tyl.1_Silent_p.R648R|MLXIPL_uc003tyo.1_Non-coding_Transcript|MLXIPL_uc003typ.1_Silent_p.R556R	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	650					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGTGATACGCCGGTTCTCGG	0.627													A	73010591	C	A	73010591	2	1	107	1	0	0	0	0	0	0	0	1	9712	726	26	4		4	MLXIPL	7	73010591	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	66983546	73010591	86128072	20	7179											
PCLO	27445	broad.mit.edu	37	chr7	82595385	82595385	+	Frame_Shift_Del	DEL	T	T	-																															ttttgtcttcaggggttggcTttttttcttctaggagtggc																										TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:82595385delT	uc003uhx.2	-	3	4008	c.3719delA	c.(3718-3720)aagfs	p.K1240fs	PCLO_uc003uhv.2_Frame_Shift_Del_p.K1240fs	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1179					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGGGGTTGGCTTTTTTTCTTC	0.383													-	82595385	T	-	82595385	7	5	107	1	0	1	0	1	0	0	0	0	11659	1609	56	0	11814	0	PCLO	7	82595385	Frame_Shift_Del	DEL	T	TCGA-06-6699-01A-11D-1845-08	9584794	82595385	76543278	21	7180											
SEMA3E	9723	broad.mit.edu	37	chr7	83047753	83047753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggtcaaaaggacatctgCcccttcctctctcagatctg	8	11	9	13	0	5	1	2	0	3	1	7	2	6	2	3	3	1	0	3	3	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:83047753C>T	uc003uhy.2	-	4	1124	c.503G>A	c.(502-504)gGc>gAc	p.G168D	SEMA3E_uc022agy.1_Missense_Mutation_p.G108D	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	168	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AGGACATCTGCCCCTTCCTCT	0.403													T	83047753	C	T	83047753	3	4	107	1	0	0	0	0	1	0	0	0	14121	739	26	2	1876	2	SEMA3E	7	83047753	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	452368	83047753	76090910	22	7181											
SLC26A5	375611	broad.mit.edu	37	chr7	103032068	103032068	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggcctgttatgtacataCctgtgtcttcccaccggttc	7	13	9	12	1	1	1	0	0	1	1	3	1	2	1	4	2	2	3	4	2	3	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:103032068C>T	uc003vbz.3	-	11	1495	c.1233_splice	c.e11+1	p.Q411_splice	SLC26A5_uc003vbt.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbu.2_Splice_Site_p.Q411_splice|SLC26A5_uc003vbv.2_Intron|SLC26A5_uc003vbw.3_Splice_Site|SLC26A5_uc003vby.3_Splice_Site|SLC26A5_uc010liy.3_Splice_Site|SLC26A5_uc003vbx.3_Splice_Site_p.Q411_splice	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	411					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TATGTACATACCTGTGTCTTC	0.438													T	103032068	C	T	103032068	5	4	107	1	0	0	0	0	0	0	1	0	14614	521	18	2	1081	2	SLC26A5	7	103032068	Splice_Site	SNP	C	TCGA-06-6699-01A-11D-1845-08	19984315	103032068	56106595	23	7182											
C7orf66	154907	broad.mit.edu	37	chr7	108524200	108524200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgatccatcatgtgaCgatattgagctgagaattcc	11	13	8	9	1	2	4	1	4	1	1	5	6	4	4	2	0	1	1	2	0	2	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:108524200C>T	uc003vfo.3	-	1	260	c.212G>A	c.(211-213)cGt>cAt	p.R71H		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	71						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						CATCATGTGACGATATTGAGC	0.418													T	108524200	C	T	108524200	3	4	107	1	0	0	0	0	1	0	0	0	2436	536	19	1	139	1	C7orf66	7	108524200	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	5492132	108524200	50614463	24	7183											
LMBR1	64327	broad.mit.edu	37	chr7	156518202	156518202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatagaagccgacaacaGaggacaccataagatagctg	16	5	11	9	1	0	3	0	0	0	3	0	5	0	4	2	2	3	2	2	2	6	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:156518202G>T	uc010lqn.3	-	14	1423	c.1208C>A	c.(1207-1209)tCt>tAt	p.S403Y	LMBR1_uc003wmv.4_Missense_Mutation_p.S210Y|LMBR1_uc003wmw.4_Missense_Mutation_p.S362Y|LMBR1_uc003wmx.4_Missense_Mutation_p.S210Y|LMBR1_uc011kvx.2_Missense_Mutation_p.S341Y	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	362						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GCCGACAACAGAGGACACCAT	0.413													T	156518202	G	T	156518202	3	4	107	1	0	0	0	0	1	0	0	0	8901	942	33	4	403	4	LMBR1	7	156518202	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	47994002	156518202	2620461	25	7184											
PTPRN2	5799	broad.mit.edu	37	chr7	157475460	157475460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacctgggtcgccccctagtCccgagagcttctccttcagc	5	9	9	18	2	2	1	1	0	1	1	5	2	3	1	5	1	2	1	5	1	1	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr7:157475460C>T	uc003wno.3	-	12	2079	c.1958G>A	c.(1957-1959)gGa>gAa	p.G653E	PTPRN2_uc003wnp.3_Missense_Mutation_p.G636E|PTPRN2_uc003wnq.3_Missense_Mutation_p.G624E|PTPRN2_uc003wnr.3_Missense_Mutation_p.G615E|PTPRN2_uc011kwa.2_Missense_Mutation_p.G676E	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	653						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		GCCCCCTAGTCCCGAGAGCTT	0.567													T	157475460	C	T	157475460	3	4	107	1	0	0	0	0	1	0	0	0	12896	855	30	2	1133	2	PTPRN2	7	157475460	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	957258	157475460	1663203	26	7185											
PRSS55	203074	broad.mit.edu	37	chr8	10396129	10396129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaactacaacctctggatCgagaaagtgacccagctaga	14	7	10	10	1	1	4	0	2	1	2	2	6	1	5	2	1	4	1	2	1	5	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:10396129C>T	uc003wta.3	+	4	925	c.885C>T	c.(883-885)atC>atT	p.I295I	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Intron|PRSS55_uc003wtb.3_Intron	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	295	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.I295I(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ACCTCTGGATCGAGAAAGTGA	0.532													T	10396129	C	T	10396129	2	4	107	1	0	0	0	0	0	0	0	1	12719	874	31	1		1	PRSS55	8	10396129	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		10396129	135967893	27	7186											
CPA6	57094	broad.mit.edu	37	chr8	68396059	68396059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccacggcagcgaaaccttGagttccttgaccttgttttt	7	14	8	12	2	0	2	0	2	0	0	2	3	2	2	4	1	2	3	4	1	1	6			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:68396059G>A	uc003xxq.4	-	7	1038	c.782C>T	c.(781-783)tCa>tTa	p.S261L	CPA6_uc003xxr.4_Missense_Mutation_p.S113L|CPA6_uc003xxs.2_Missense_Mutation_p.S261L	NM_020361	NP_065094	Q8N4T0	CBPA6_HUMAN	Homo sapiens carboxypeptidase A6 (CPA6), mRNA.	261					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			GCGAAACCTTGAGTTCCTTGA	0.408													A	68396059	G	A	68396059	3	1	107	1	0	0	0	0	1	0	0	0	3825	1294	45	2	547	2	CPA6	8	68396059	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	57999930	68396059	77967963	28	7187											
FER1L6	654463	broad.mit.edu	37	chr8	125131850	125131850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccttccccctcagccGcccagacacctccttttcgt	4	12	4	21	2	2	1	1	0	1	1	6	1	5	1	7	0	1	0	7	0	0	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:125131850G>A	uc003yqw.3	+	40	5599	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1798						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCCCTCAGCCGCCCAGACACC	0.473													A	125131850	G	A	125131850	3	1	107	1	0	0	0	0	1	0	0	0	5864	1087	38	1	5551	1	FER1L6	8	125131850	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	56735791	125131850	21232172	29	7188											
TG	7038	broad.mit.edu	37	chr8	133879248	133879248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagggccaggaaaatGgccctggtcctggagatctt	10	7	14	10	0	1	1	0	0	1	1	2	4	2	3	4	6	0	0	4	6	3	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr8:133879248G>A	uc003ytw.3	+	0	44	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCAGGAAAATGGCCCTGGTCC	0.592													A	133879248	G	A	133879248	3	1	107	1	0	0	0	0	1	0	0	0	15913	1348	47	2	5	2	TG	8	133879248	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	8747398	133879248	12484774	30	7189											
PTPDC1	138639	broad.mit.edu	37	chr9	96860365	96860365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccttggttcgcagcaCactttctttctggagtcagt	7	13	11	10	1	3	0	1	0	2	0	4	2	3	2	1	3	2	3	1	3	1	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr9:96860365C>A	uc010mrj.2	+	5	1619	c.1517C>A	c.(1516-1518)aCa>aAa	p.T506K	PTPDC1_uc004auf.2_Missense_Mutation_p.T452K|PTPDC1_uc004aug.2_Missense_Mutation_p.T452K|PTPDC1_uc004auh.2_Missense_Mutation_p.T504K|PTPDC1_uc010mri.2_Missense_Mutation_p.T504K	NM_001253829	NP_001240758	A2A3K4	PTPC1_HUMAN	Homo sapiens protein tyrosine phosphatase domain containing 1 (PTPDC1), transcript variant 3, mRNA.	452							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GTTCGCAGCACACTTTCTTTC	0.483													A	96860365	C	A	96860365	3	1	107	1	0	0	0	0	1	0	0	0	12859	478	17	4	1619	4	PTPDC1	9	96860365	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		96860365	44353066	31	7190											
DTX4	23220	broad.mit.edu	37	chr11	58949764	58949764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccactgaagaccgccccatCgcaggtgatccggagacaag	11	4	11	15	3	0	4	0	2	0	2	2	5	1	4	5	2	0	1	5	2	2	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:58949764C>T	uc001nns.2	+	1	1021	c.764C>T	c.(763-765)tCg>tTg	p.S255L	DTX4_uc001nnr.2_Missense_Mutation_p.S149L	NM_015177	NP_055992	Q9Y2E6	DTX4_HUMAN	Homo sapiens deltex homolog 4 (Drosophila) (DTX4), mRNA.	255					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				ACCGCCCCATCGCAGGTGATC	0.657													T	58949764	C	T	58949764	3	4	107	1	0	0	0	0	1	0	0	0	4836	893	31	1	770	1	DTX4	11	58949764	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		58949764	76056752	32	7191											
MMP13	4322	broad.mit.edu	37	chr11	102826186	102826186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccttcaggattcccgCgagatttgtaggatggtagt	8	14	11	8	2	2	1	1	0	1	1	4	4	3	3	2	3	0	2	2	3	2	6			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr11:102826186C>T	uc001phl.3	-	1	186	c.157G>A	c.(157-159)Gcg>Acg	p.A53T		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	53					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.A53A(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AGGATTCCCGCGAGATTTGTA	0.458													T	102826186	C	T	102826186	3	4	107	1	0	0	0	0	1	0	0	0	9727	768	27	1	1294	1	MMP13	11	102826186	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	43876422	102826186	32180330	33	7192											
IL23A	51561	broad.mit.edu	37	chr12	56733735	56733735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctttcagcctgagggTcaccactgggagactcagca	9	9	11	12	0	3	2	3	1	0	1	4	3	4	2	3	2	2	1	3	2	0	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:56733735T>C	uc001sla.3	+	3	583	c.417T>C	c.(415-417)ggT>ggC	p.G139G		NM_016584	NP_057668	Q9NPF7	IL23A_HUMAN	Homo sapiens interleukin 23, alpha subunit p19 (IL23A), mRNA.	139					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						AGCCTGAGGGTCACCACTGGG	0.572													C	56733735	T	C	56733735	2	2	107	1	0	0	0	0	0	0	0	1	7733	1654	58	3		3	IL23A	12	56733735	Silent	SNP	T	TCGA-06-6699-01A-11D-1845-08		56733735	77118160	34	7193											
CUX2	23316	broad.mit.edu	37	chr12	111785603	111785603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatgctgaggaagaggcagGcagccagccccaggactcag	11	3	16	11	0	1	2	1	1	0	1	1	5	1	5	3	5	3	3	3	5	1	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr12:111785603G>A	uc001tsa.2	+	21	4089	c.3935G>A	c.(3934-3936)gGc>gAc	p.G1312D		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1312						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAGAGGCAGGCAGCCAGCCC	0.612													A	111785603	G	A	111785603	3	1	107	1	0	0	0	0	1	0	0	0	4098	1203	42	2	4021	2	CUX2	12	111785603	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	55051868	111785603	22066292	35	7194											
FAM124A	220108	broad.mit.edu	37	chr13	51825704	51825704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggaggccatcgacaaCgtcctggcgtggatccaccc	8	6	12	15	3	0	0	0	0	0	0	3	3	2	2	4	4	2	1	4	4	1	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr13:51825704C>T	uc001vff.2	+	3	477	c.309C>T	c.(307-309)aaC>aaT	p.N103N	FAM124A_uc001vfe.3_Silent_p.N67N|FAM124A_uc001vfg.2_Silent_p.N67N	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	67										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCGACAACGTCCTGGCGT	0.687													T	51825704	C	T	51825704	2	4	107	1	0	0	0	0	0	0	0	1	5470	535	19	1		1	FAM124A	13	51825704	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		51825704	63344174	36	7195											
MAX	4149	broad.mit.edu	37	chr14	65569050	65569050	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcgatgtcatcgttaTcgctcatttcctacggccca	7	12	6	16	4	2	0	2	0	0	0	6	1	3	0	4	1	1	2	4	1	2	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:65569050T>A	uc001xif.1	-	0	178	c.8A>T	c.(7-9)gAt>gTt	p.D3V	MAX_uc001xic.1_Missense_Mutation_p.D3V|MAX_uc001xie.1_Missense_Mutation_p.D3V|MAX_uc001xig.1_Missense_Mutation_p.D3V|MAX_uc001xih.1_Non-coding_Transcript|MAX_uc001xii.1_Missense_Mutation_p.D3V|MAX_uc001xij.1_Missense_Mutation_p.D3V|MAX_uc001xik.3_Missense_Mutation_p.D3V	NM_002382	NP_002373	P61244	MAX_HUMAN	Homo sapiens MYC associated factor X (MAX), transcript variant 1, mRNA.	3					transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTCATCGTTATCGCTCATTTC	0.667													A	65569050	T	A	65569050	3	1	107	1	0	0	0	0	1	0	0	0	9414	1435	50	5	834	5	MAX	14	65569050	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08		65569050	41780490	37	7196											
ISM2	145501	broad.mit.edu	37	chr14	77942269	77942269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagatgtccaggcgctcgCgagggccactggcatccctc	6	7	14	14	3	0	1	0	0	0	1	4	2	2	1	3	4	0	3	3	4	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:77942269C>T	uc001xtz.3	-	6	1459	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	ISM2_uc001xua.3_3'UTR|ISM2_uc001xty.3_Missense_Mutation_p.R374H	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	462	AMOP.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						CAGGCGCTCGCGAGGGCCACT	0.672													T	77942269	C	T	77942269	3	4	107	1	0	0	0	0	1	0	0	0	7919	768	27	1	334	1	ISM2	14	77942269	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	12373219	77942269	29407271	38	7197											
ATG2B	55102	broad.mit.edu	37	chr14	96752258	96752258	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcccacggcaccagtcAcccctctgctctcgtgttct	4	10	7	20	3	4	0	1	0	3	0	6	0	4	0	5	1	1	3	5	1	0	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr14:96752258A>C	uc001yfi.3	-	41	6436	c.6071T>G	c.(6070-6072)gTg>gGg	p.V2024G		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	2024										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GGCACCAGTCACCCCTCTGCT	0.582													C	96752258	A	C	96752258	3	2	107	1	0	0	0	0	1	0	0	0	1099	159	6	5	169	5	ATG2B	14	96752258	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	18809989	96752258	10597282	39	7198											
C15orf2	23742	broad.mit.edu	37	chr15	24921107	24921107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctcccctgtcccgggaCgcctccccgcccggtcgggc	1	5	12	23	6	0	0	0	0	0	0	4	1	3	1	8	3	0	1	8	3	0	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:24921107C>T	uc001ywo.3	+	0	567	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	31					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TGTCCCGGGACGCCTCCCCGC	0.697													T	24921107	C	T	24921107	2	4	107	1	0	0	0	0	0	0	0	1	1797	535	19	1		1	C15orf2	15	24921107	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08		24921107	77610285	40	7199											
OCA2	4948	broad.mit.edu	37	chr15	28273201	28273201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtaaacaggtatgcaccGtgacctggaaagcaagagag	15	6	13	7	1	0	2	0	1	0	1	0	4	0	3	2	3	3	4	2	3	5	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:28273201G>A	uc001zbh.4	-	3	441	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W	OCA2_uc010ayv.3_Missense_Mutation_p.R111W	NM_000275	NP_000266	Q04671	P_HUMAN	Homo sapiens oculocutaneous albinism II (OCA2), mRNA.	111					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GGTATGCACCGTGACCTGGAA	0.488									Oculocutaneous Albinism				A	28273201	G	A	28273201	3	1	107	1	0	0	0	0	1	0	0	0	10891	1144	40	1	2269	1	OCA2	15	28273201	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	3352094	28273201	74258191	41	7200											
WDR76	79968	broad.mit.edu	37	chr15	44150913	44150913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgattgaattccaggagaaGtcagcctttgatttctttga	10	14	10	7	1	2	4	1	3	1	1	3	6	3	4	2	1	1	0	2	1	2	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:44150913G>A	uc001zti.2	+	10	1573	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	WDR76_uc021skg.1_Missense_Mutation_p.S421N	NM_024908	NP_001161413	Q9H967	WDR76_HUMAN	Homo sapiens WD repeat domain 76 (WDR76), transcript variant 1, mRNA.	485										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		TCCAGGAGAAGTCAGCCTTTG	0.403													A	44150913	G	A	44150913	3	1	107	1	0	0	0	0	1	0	0	0	17428	1029	36	2	1496	2	WDR76	15	44150913	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	15877712	44150913	58380479	42	7201											
ADAMTS7	11173	broad.mit.edu	37	chr15	79067005	79067005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtgtgcagctggccctTgtagagcatagcgtcaaagt	9	10	12	10	1	1	1	1	0	0	1	1	1	1	1	2	1	4	4	2	1	3	3	rs151217691		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr15:79067005T>C	uc002bej.4	-	11	2048	c.1837A>G	c.(1837-1839)Aag>Gag	p.K613E	ADAMTS7_uc010und.1_Intron|ADAMTS7_uc002bek.1_Missense_Mutation_p.K613E	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	613	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.K613E(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCTGGCCCTTGTAGAGCATA	0.642													C	79067005	T	C	79067005	3	2	107	1	0	0	0	0	1	0	0	0	271	1821	63	3	3275	3	ADAMTS7	15	79067005	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	34916092	79067005	23464387	43	7202											
SSTR5	6755	broad.mit.edu	37	chr16	1129345	1129345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcgtgtggccaagctggcGagcgccgcggcctgggtcct	3	6	17	15	6	0	0	0	0	0	0	1	1	1	0	5	4	2	1	5	4	1	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1129345G>A	uc021taf.1	+	1	548	c.477G>A	c.(475-477)gcG>gcA	p.A159A	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.A159A	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	159					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	CCAAGCTGGCGAGCGCCGCGG	0.706													A	1129345	G	A	1129345	2	1	107	1	0	0	0	0	0	0	0	1	15297	1045	37	1		1	SSTR5	16	1129345	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08		1129345	89225408	44	7203											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1814345	1814345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagcgggtggaggcccaAtgaggacgacgctgggaatg	9	5	18	9	3	0	2	0	2	0	0	0	6	0	5	2	5	1	1	2	5	2	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:1814345A>G	uc010uvl.2	+	18	2285	c.2165A>G	c.(2164-2166)aAt>aGt	p.N722S	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.N721S|MAPK8IP3_uc002cml.3_Missense_Mutation_p.N711S|MAPK8IP3_uc021tah.1_Missense_Mutation_p.N715S	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	721					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAGGCCCAATGAGGACGAC	0.706													G	1814345	A	G	1814345	3	3	107	1	0	0	0	0	1	0	0	0	9361	101	4	3	2252	3	MAPK8IP3	16	1814345	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	685000	1814345	88540408	45	7204											
ADAMTS18	170692	broad.mit.edu	37	chr16	77356301	77356301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccatctttcactttgcCggacattgcaaaaaaaaatt	14	13	5	9	1	2	0	1	0	1	0	3	1	3	1	2	1	2	2	2	1	4	5	rs142855321		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr16:77356301C>T	uc002ffc.4	-	13	2514	c.2095G>A	c.(2095-2097)Ggc>Agc	p.G699S	ADAMTS18_uc010chc.1_Missense_Mutation_p.G287S|ADAMTS18_uc002ffe.1_Missense_Mutation_p.G395S	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	699	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.G699S(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCACTTTGCCGGACATTGCA	0.403													T	77356301	C	T	77356301	3	4	107	1	0	0	0	0	1	0	0	0	263	652	23	1	1610	1	ADAMTS18	16	77356301	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	75541956	77356301	12998452	46	7205											
MYO15A	51168	broad.mit.edu	37	chr17	18022706	18022706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagccgcagcatctacGcgtcaggcgagcccctgggc	6	4	13	18	5	2	0	1	0	1	0	2	1	2	0	4	2	4	3	4	2	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18022706G>A	uc021trm.1	+	0	811	c.592G>A	c.(592-594)Gcg>Acg	p.A198T	MYO15A_uc021trl.1_Missense_Mutation_p.A198T	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	198	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CAGCATCTACGCGTCAGGCGA	0.701													A	18022706	G	A	18022706	3	1	107	1	0	0	0	0	1	0	0	0	10139	1087	38	1	594	1	MYO15A	17	18022706	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		18022706	63172504	47	7206											
FAM83G	644815	broad.mit.edu	37	chr17	18891569	18891569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctgctcaccttgaggtgCcccaggtgcatgcaggcccg	6	7	13	15	1	1	1	1	1	0	0	1	1	1	1	5	3	5	3	5	3	0	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:18891569C>T	uc002guw.3	-	2	848	c.681G>A	c.(679-681)ggG>ggA	p.G227G	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	227										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCTTGAGGTGCCCCAGGTGCA	0.577													T	18891569	C	T	18891569	2	4	107	1	0	0	0	0	0	0	0	1	5689	726	26	2		2	FAM83G	17	18891569	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	868863	18891569	62303641	48	7207											
ACE	1636	broad.mit.edu	37	chr17	61560507	61560507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcgtacccccccttcccGctacaacttcgactggtggt	5	10	10	16	3	0	0	0	0	0	0	2	1	1	0	4	3	3	2	4	3	3	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:61560507G>A	uc002jau.2	+	8	1494	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	ACE_uc010wpi.2_Intron|ACE_uc010ddu.2_Missense_Mutation_p.R304H|ACE_uc010wpj.2_5'Flank|ACE_uc010ddv.2_5'Flank|ACE_uc002jav.2_5'Flank|ACE_uc002jaw.2_5'Flank|ACE_uc010wpk.2_5'Flank	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	487	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CCCCCTTCCCGCTACAACTTC	0.587													A	61560507	G	A	61560507	3	1	107	1	0	0	0	0	1	0	0	0	136	1087	38	1	1494	1	ACE	17	61560507	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	42668938	61560507	19634703	49	7208											
SOX9	6662	broad.mit.edu	37	chr17	70117873	70117873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgaacgccttcatggTgtgggcgcaggcggcgcgca	6	6	16	13	5	1	1	1	1	0	0	1	1	1	1	2	4	1	2	2	4	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:70117873T>C	uc002jiw.3	+	0	713	c.341T>C	c.(340-342)gTg>gCg	p.V114A	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	114					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCCTTCATGGTGTGGGCGCAG	0.657													C	70117873	T	C	70117873	3	2	107	1	0	0	0	0	1	0	0	0	15052	1696	59	3	343	3	SOX9	17	70117873	Missense_Mutation	SNP	T	TCGA-06-6699-01A-11D-1845-08	8557366	70117873	11077337	50	7209											
CSNK1D	1453	broad.mit.edu	37	chr17	80213441	80213441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgccccgcaccatctgatgGtggggatgcccactaggcaa	8	7	12	14	1	1	1	0	1	1	0	1	2	1	2	4	4	2	2	4	4	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr17:80213441G>A	uc002kej.3	-	2	537	c.200C>T	c.(199-201)aCc>aTc	p.T67I	CSNK1D_uc002kei.3_Missense_Mutation_p.T67I|CSNK1D_uc010wvj.2_5'UTR|CSNK1D_uc002keh.3_5'Flank|CSNK1D_uc010dim.1_5'Flank	NM_001893	NP_001884	P48730	KC1D_HUMAN	Homo sapiens casein kinase 1, delta (CSNK1D), transcript variant 1, mRNA.	67	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			CCATCTGATGGTGGGGATGCC	0.572													A	80213441	G	A	80213441	3	1	107	1	0	0	0	0	1	0	0	0	3985	1261	44	2	1112	2	CSNK1D	17	80213441	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	10095568	80213441	981769	51	7210											
ANKRD30B	374860	broad.mit.edu	37	chr18	14803789	14803789	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacccaaggctacacatcaAaaagaattcgataccttaag	17	9	5	10	1	1	1	1	0	0	1	2	2	1	1	2	1	3	1	2	1	8	5			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:14803789A>G	uc010dlo.2	+	23	2430	c.2250A>G	c.(2248-2250)caA>caG	p.Q750Q	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Silent_p.Q750Q	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	835										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTACACATCAAAAAGAATTCG	0.323													G	14803789	A	G	14803789	2	3	107	1	0	0	0	0	0	0	0	1	659	11	1	3		3	ANKRD30B	18	14803789	Silent	SNP	A	TCGA-06-6699-01A-11D-1845-08		14803789	63273459	52	7211											
RBBP8	5932	broad.mit.edu	37	chr18	20572852	20572853	+	Frame_Shift_Ins	INS	-	-	A																															cttctcttttacagcctgggINSaaaaaaaaacatctgaaaac																										TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:20572852_20572853insA	uc002kua.3	+	10	1185_1186	c.1062_1063insA	c.(1060-1065)gggaaafs	p.G354fs	RBBP8_uc002ktw.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002kty.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktz.3_Frame_Shift_Ins_p.G354fs|RBBP8_uc002ktx.1_Frame_Shift_Ins_p.G354fs	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	354					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.K355E(3)|p.G354G(3)|p.K357fs*3(2)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TACAGCCTGGGAAAAAAAAACA	0.361								Homologous recombination					A	20572853	-	A	20572852	7	5	107	1	0	1	1	0	0	0	0	0	13193	1161	41	0	1100	0	RBBP8	18	20572852	Frame_Shift_Ins	INS	-	TCGA-06-6699-01A-11D-1845-08	5769063	20572852	57504396	53	7212											
PIGN	23556	broad.mit.edu	37	chr18	59757728	59757728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttttgtttacagcaaacaCcagattgttgtagagtttct	10	16	7	8	0	1	2	0	0	1	2	1	2	1	2	2	0	3	5	2	0	3	8			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:59757728C>T	uc021ulb.1	-	20	2296	c.2264G>A	c.(2263-2265)gGt>gAt	p.G755D	PIGN_uc021ulc.1_Missense_Mutation_p.G381D|PIGN_uc021uld.1_Missense_Mutation_p.G381D	NM_176787	NP_789744	O95427	PIGN_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class N (PIGN), transcript variant 1, mRNA.	755					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				ACAGCAAACACCAGATTGTTG	0.343													T	59757728	C	T	59757728	3	4	107	1	0	0	0	0	1	0	0	0	11970	507	18	2	563	2	PIGN	18	59757728	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	39184876	59757728	18319520	54	7213											
KCNG2	26251	broad.mit.edu	37	chr18	77623839	77623839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgacgacctgctgcgcGtgtgtgacgactacgacgtg	7	7	14	13	7	0	1	0	1	0	0	0	5	0	1	2	0	3	1	2	0	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr18:77623839G>A	uc010xfl.2	+	0	172	c.172G>A	c.(172-174)Gtg>Atg	p.V58M		NM_012283	NP_036415	Q9UJ96	KCNG2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 2 (KCNG2), mRNA.	58					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCTGCTGCGCGTGTGTGACGA	0.741													A	77623839	G	A	77623839	3	1	107	1	0	0	0	0	1	0	0	0	8086	1145	40	1	174	1	KCNG2	18	77623839	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	17866111	77623839	453409	55	7214											
C19orf35	374872	broad.mit.edu	37	chr19	2278816	2278816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccgggctgtgcagatCgcggagggagaggcccagtg	7	5	18	11	3	0	2	0	0	0	2	2	4	1	3	3	4	2	2	3	4	0	0			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:2278816C>A	uc002lvn.2	-	2	479	c.379G>T	c.(379-381)Gat>Tat	p.D127Y	SPPL2B_uc010dsw.1_Intron	NM_198532	NP_940934	Q6ZS72	CS035_HUMAN	Homo sapiens chromosome 19 open reading frame 35 (C19orf35), mRNA.	127										large_intestine(1)|lung(5)|pancreas(1)|prostate(1)	8				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)		CTGTGCAGATCGCGGAGGGAG	0.692													A	2278816	C	A	2278816	3	1	107	1	0	0	0	0	1	0	0	0	1939	884	31	4	1050	4	C19orf35	19	2278816	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		2278816	56850167	56	7215											
CLEC4M	10332	broad.mit.edu	37	chr19	7833851	7833851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggatctgcaaaaagcccGcagcctgcttcagagacgaa	13	6	10	12	2	2	1	1	0	1	1	2	4	2	2	2	1	4	3	2	1	3	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:7833851G>A	uc010dvt.3	+	6	1295	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	CLEC4M_uc002mih.3_Missense_Mutation_p.A370T|CLEC4M_uc010xjw.2_Missense_Mutation_p.A326T|CLEC4M_uc010dvs.3_Missense_Mutation_p.A369T|CLEC4M_uc010xjx.2_Missense_Mutation_p.A342T|CLEC4M_uc002mhz.3_3'UTR|CLEC4M_uc002mic.3_3'UTR|CLEC4M_uc002mia.3_Missense_Mutation_p.A257T	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	393					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.P392L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAAAAAGCCCGCAGCCTGCTT	0.498													A	7833851	G	A	7833851	3	1	107	1	0	0	0	0	1	0	0	0	3549	1087	38	1	1224	1	CLEC4M	19	7833851	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	5555035	7833851	51295132	57	7216											
FBN3	84467	broad.mit.edu	37	chr19	8148157	8148157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtagtagcagtagcatccGgtgtgtacccggcctgacag	9	8	14	10	2	0	1	0	1	0	0	1	1	1	1	3	3	3	6	3	3	4	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:8148157G>T	uc002mjf.3	-	55	7204	c.7187C>A	c.(7186-7188)cCg>cAg	p.P2396Q	FBN3_uc002mje.3_Missense_Mutation_p.P235Q	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2396	EGF-like 38; 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						AGTAGCATCCGGTGTGTACCC	0.602													T	8148157	G	T	8148157	3	4	107	1	0	0	0	0	1	0	0	0	5753	1116	39	4	1274	4	FBN3	19	8148157	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	314306	8148157	50980826	58	7217											
MUC16	94025	broad.mit.edu	37	chr19	9056233	9056233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcactgttcccagctcaaCgctctctgtcattctggtat	6	15	7	13	1	5	0	3	0	2	0	7	0	6	0	1	1	2	4	1	1	2	3			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9056233C>T	uc002mkp.3	-	2	31417	c.31213G>A	c.(31213-31215)Gtt>Att	p.V10405I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10407	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						CCCAGCTCAACGCTCTCTGTC	0.483													T	9056233	C	T	9056233	3	4	107	1	0	0	0	0	1	0	0	0	10049	536	19	1	12638	1	MUC16	19	9056233	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	908076	9056233	50072750	59	7218											
OLFM2	93145	broad.mit.edu	37	chr19	9965148	9965148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggtagccggtgtcccagGaccgcatgacctcgagggtg	6	7	17	11	3	0	1	0	1	0	0	2	3	1	2	4	5	1	2	4	5	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:9965148G>A	uc002mmp.3	-	5	1107	c.1079C>T	c.(1078-1080)tCc>tTc	p.S360F		NM_058164	NP_477512	O95897	NOE2_HUMAN	Homo sapiens olfactomedin 2 (OLFM2), mRNA.	360	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GGTGTCCCAGGACCGCATGAC	0.657													A	9965148	G	A	9965148	3	1	107	1	0	0	0	0	1	0	0	0	10929	1174	41	2	289	2	OLFM2	19	9965148	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	908915	9965148	49163835	60	7219											
CYP4F11	57834	broad.mit.edu	37	chr19	16025652	16025652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggactgggggatgcaacCgcaggctctccttaatgcac	8	7	13	13	2	1	0	0	0	1	0	2	2	1	2	3	4	3	4	3	4	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:16025652C>T	uc002nbu.2	-	9	1205	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	CYP4F11_uc010eab.1_Missense_Mutation_p.R390Q|CYP4F11_uc002nbt.2_Missense_Mutation_p.R390Q	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	390					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GGGATGCAACCGCAGGCTCTC	0.592													T	16025652	C	T	16025652	3	4	107	1	0	0	0	0	1	0	0	0	4219	652	23	1	421	1	CYP4F11	19	16025652	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	6060504	16025652	43103331	61	7220											
ZNF302	55900	broad.mit.edu	37	chr19	35175342	35175342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctttcattcaaagtctactCtttctgaaccacaaaacaat	14	13	2	12	0	5	1	2	1	3	0	5	1	5	1	2	0	3	0	2	0	6	4			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:35175342C>G	uc002nvr.1	+	5	795	c.532C>G	c.(532-534)Ctt>Gtt	p.L178V	ZNF302_uc002nvp.1_Missense_Mutation_p.L134V|ZNF302_uc002nvq.1_Missense_Mutation_p.L134V|ZNF302_uc002nvs.1_Missense_Mutation_p.L134V	NM_018443	NP_060913	Q9NR11	ZN302_HUMAN	Homo sapiens zinc finger protein 302 (ZNF302), transcript variant 1, mRNA.	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGTCTACTCTTTCTGAACC	0.274													G	35175342	C	G	35175342	3	3	107	1	0	0	0	0	1	0	0	0	17933	913	32	4	414	4	ZNF302	19	35175342	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	19149690	35175342	23953641	62	7221											
SHKBP1	92799	broad.mit.edu	37	chr19	41083170	41083170	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccagactctcacctggatCccagactccttcttctccag	7	10	6	18	1	3	2	1	0	3	2	7	3	5	3	5	1	0	0	5	1	0	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:41083170C>A	uc002oob.3	+	1	169	c.120C>A	c.(118-120)atC>atA	p.I40I	SHKBP1_uc002ooc.3_Silent_p.I40I|SHKBP1_uc010xvl.1_5'UTR|SHKBP1_uc002ooe.3_5'UTR|SHKBP1_uc010xvm.2_5'Flank|SHKBP1_uc010xvn.2_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	40	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCACCTGGATCCCAGACTCCT	0.617													A	41083170	C	A	41083170	2	1	107	1	0	0	0	0	0	0	0	1	14378	845	30	4		4	SHKBP1	19	41083170	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	5907828	41083170	18045813	63	7222											
SBK2	646643	broad.mit.edu	37	chr19	56047476	56047476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggacgcacttcctcGtagagctcgtccacctcggc	6	7	11	17	4	0	1	0	0	0	1	5	2	2	2	4	3	1	3	4	3	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr19:56047476G>A	uc010ygc.2	-	1	201	c.186C>T	c.(184-186)taC>taT	p.Y62Y		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	62	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCACTTCCTCGTAGAGCTCGT	0.652													A	56047476	G	A	56047476	2	1	107	1	0	0	0	0	0	0	0	1	13953	1140	40	1		1	SBK2	19	56047476	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	14964306	56047476	3081507	64	7223											
ADAM33	80332	broad.mit.edu	37	chr20	3655285	3655285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagtccttggagccccGgggtggccagggacgcagat	8	6	17	10	2	0	2	0	1	0	2	1	5	1	4	4	5	1	1	4	5	1	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:3655285G>A	uc002wit.3	-	5	553	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	ADAM33_uc002wir.1_Missense_Mutation_p.R156W|ADAM33_uc002wis.3_5'Flank|ADAM33_uc002wiu.3_Missense_Mutation_p.R156W|ADAM33_uc002wiw.1_Intron|ADAM33_uc010gba.1_Intron|ADAM33_uc010gbb.1_Intron|ADAM33_uc002wix.1_Intron|ADAM33_uc010zqg.1_Missense_Mutation_p.R168W|ADAM33_uc010zqh.1_Missense_Mutation_p.R156W	NM_025220	NP_079496	Q9BZ11	ADA33_HUMAN	Homo sapiens ADAM metallopeptidase domain 33 (ADAM33), transcript variant 1, mRNA.	156					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.P155P(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTGGAGCCCCGGGGTGGCCAG	0.607													A	3655285	G	A	3655285	3	1	107	1	0	0	0	0	1	0	0	0	250	1115	39	1	2043	1	ADAM33	20	3655285	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		3655285	59370235	65	7224											
CHGB	1114	broad.mit.edu	37	chr20	5904558	5904558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgagaagagaaacctcGccagggtccccaagctggac	12	5	13	11	1	0	2	0	1	0	2	2	5	1	3	4	3	2	2	4	3	4	1	rs148235020		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:5904558G>A	uc002wmg.3	+	3	2074	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T	CHGB_uc010zqz.2_Missense_Mutation_p.A273T	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	590						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GAGAAACCTCGCCAGGGTCCC	0.498													A	5904558	G	A	5904558	3	1	107	1	0	0	0	0	1	0	0	0	3369	1087	38	1	1782	1	CHGB	20	5904558	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	2249273	5904558	57120962	66	7225											
PAK7	57144	broad.mit.edu	37	chr20	9543605	9543605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgaccacccagagctcatCgccgacaaggtagctgctgt	10	7	10	14	2	1	2	1	1	0	1	2	3	1	2	3	1	3	4	3	1	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:9543605C>T	uc002wnl.2	-	6	2094	c.1549G>A	c.(1549-1551)Gat>Aat	p.D517N	PAK7_uc002wnk.2_Missense_Mutation_p.D517N|PAK7_uc002wnj.2_Missense_Mutation_p.D517N|PAK7_uc010gby.1_Missense_Mutation_p.D517N	NM_020341	NP_817127	Q9P286	PAK7_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 7 (PAK7), transcript variant 1, mRNA.	517	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CAGAGCTCATCGCCGACAAGG	0.478													T	9543605	C	T	9543605	3	4	107	1	0	0	0	0	1	0	0	0	11481	884	31	1	630	1	PAK7	20	9543605	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08	3639047	9543605	53481915	67	7226											
COL20A1	57642	broad.mit.edu	37	chr20	61959711	61959711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttcgactccttccaCgagaacaccaggccccccat	11	7	6	17	2	1	1	1	0	0	1	4	3	3	1	6	1	1	1	6	1	2	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr20:61959711C>T	uc011aau.2	+	33	3742	c.3642C>T	c.(3640-3642)caC>caT	p.H1214H	COL20A1_uc011aav.2_Silent_p.H1041H	NM_020882	NP_065933	Q9P218	COKA1_HUMAN	Homo sapiens collagen, type XX, alpha 1 (COL20A1), mRNA.	1214					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					ACTCCTTCCACGAGAACACCA	0.672													T	61959711	C	T	61959711	2	4	107	1	0	0	0	0	0	0	0	1	3710	535	19	1		1	COL20A1	20	61959711	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	52416106	61959711	1065809	68	7227											
CLDN14	23562	broad.mit.edu	37	chr21	37833779	37833779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggtcttggggcagcGccagcagggatcggtagatc	7	7	17	10	2	1	1	0	0	1	1	3	3	1	3	2	6	2	3	2	6	1	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr21:37833779G>A	uc021wja.1	-	0	215	c.215C>T	c.(214-216)gCg>gTg	p.A72V	CLDN14_uc002yvn.1_Missense_Mutation_p.A72V|CLDN14_uc002yvo.1_Missense_Mutation_p.A72V|CLDN14_uc002yvk.1_Missense_Mutation_p.A72V|CLDN14_uc002yvl.1_Missense_Mutation_p.A72V|CLDN14_uc002yvm.1_Missense_Mutation_p.A72V	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	72					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TTGGGGCAGCGCCAGCAGGGA	0.632													A	37833779	G	A	37833779	3	1	107	1	0	0	0	0	1	0	0	0	3506	1087	38	1	508	1	CLDN14	21	37833779	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08		37833779	10296116	69	7228											
YWHAH	7533	broad.mit.edu	37	chr22	32352631	32352631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagcctgcctcttagccaAacaagccttcgatgatgcca	11	8	8	14	1	1	1	0	1	1	0	2	2	1	1	5	0	6	1	5	0	4	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chr22:32352631A>G	uc003alz.3	+	1	834	c.593A>G	c.(592-594)aAa>aGa	p.K198R	YWHAH_uc003ama.3_Missense_Mutation_p.K128R|YWHAH_uc010gwm.3_Missense_Mutation_p.K185R	NM_003405	NP_003396	Q04917	1433F_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide (YWHAH), mRNA.	198					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						CTCTTAGCCAAACAAGCCTTC	0.537													G	32352631	A	G	32352631	3	3	107	1	0	0	0	0	1	0	0	0	17606	14	1	3	599	3	YWHAH	22	32352631	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08		32352631	18951935	70	7229											
FRMPD4	9758	broad.mit.edu	37	chrX	12516825	12516825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagtcttcaggctggcCgcctccctcgggaacctggg	6	7	14	14	3	2	0	1	0	1	0	4	3	3	1	4	4	1	1	4	4	2	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:12516825C>T	uc004cuz.2	+	1	574	c.68C>T	c.(67-69)cCg>cTg	p.P23L	FRMPD4_uc011mij.2_Missense_Mutation_p.P15L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	23					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCAGGCTGGCCGCCTCCCTCG	0.512													T	12516825	C	T	12516825	3	4	107	1	0	0	0	0	1	0	0	0	6111	652	23	1	74	1	FRMPD4	23	12516825	Missense_Mutation	SNP	C	TCGA-06-6699-01A-11D-1845-08		12516825	142753735	71	7230											
CDKL5	6792	broad.mit.edu	37	chrX	18622187	18622187	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttagtccactgcacacCaaaacctaccaagcaagcag	15	6	6	14	0	1	0	0	0	1	0	2	0	2	0	4	0	5	3	4	0	6	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:18622187C>A	uc004cym.3	+	11	1396	c.1143C>A	c.(1141-1143)acC>acA	p.T381T	CDKL5_uc004cyn.3_Silent_p.T381T|CDKL5_uc022btn.1_Silent_p.T372T	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	381					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CACTGCACACCAAAACCTACC	0.507													A	18622187	C	A	18622187	2	1	107	1	0	0	0	0	0	0	0	1	3187	581	21	4		4	CDKL5	23	18622187	Silent	SNP	C	TCGA-06-6699-01A-11D-1845-08	6105362	18622187	136648373	72	7231											
SYP	6855	broad.mit.edu	37	chrX	49048188	49048188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacacgaaccacaggttgccGacccagagcaccaggttcag	13	4	10	14	2	1	1	1	0	0	1	1	3	1	1	4	2	4	3	4	2	2	2			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49048188G>A	uc004dmz.1	-	5	664	c.648C>T	c.(646-648)gtC>gtT	p.V216V	SYP_uc011mmz.1_Silent_p.V98V	NM_003179	NP_003170	P08247	SYPH_HUMAN	Homo sapiens synaptophysin (SYP), mRNA.	216	MARVEL.				regulation of long-term neuronal synaptic plasticity|regulation of short-term neuronal synaptic plasticity|synaptic vesicle maturation|synaptic vesicle membrane organization	cell junction|integral to synaptic vesicle membrane|synaptosome	calcium ion binding|cholesterol binding|transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)	15		all_lung(315;0.00016)				ACAGGTTGCCGACCCAGAGCA	0.677													A	49048188	G	A	49048188	2	1	107	1	0	0	0	0	0	0	0	1	15558	1045	37	1		1	SYP	23	49048188	Silent	SNP	G	TCGA-06-6699-01A-11D-1845-08	30426001	49048188	106222372	73	7232											
FOXP3	50943	broad.mit.edu	37	chrX	49112252	49112252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccagaagatggtccGcctggcagtgcctaagtagg	9	9	12	11	1	1	2	1	0	1	2	4	2	3	2	4	3	1	2	4	3	3	2	rs2232369		TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:49112252G>A	uc004dnf.4	-	6	847	c.659C>T	c.(658-660)gCg>gTg	p.A220V	FOXP3_uc011mnb.2_Missense_Mutation_p.A243V|FOXP3_uc011mnc.2_Missense_Mutation_p.A220V|FOXP3_uc004dne.4_Missense_Mutation_p.A185V|FOXP3_uc022bwa.1_Missense_Mutation_p.A170V	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	220					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					AAGATGGTCCGCCTGGCAGTG	0.587													A	49112252	G	A	49112252	3	1	107	1	0	0	0	0	1	0	0	0	6079	1087	38	1	660	1	FOXP3	23	49112252	Missense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	64064	49112252	106158308	74	7233											
TEX11	56159	broad.mit.edu	37	chrX	69825267	69825267	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctgttcaaaagctgttGaagcttttctcccttgctct	7	17	6	11	0	3	1	1	1	2	0	4	1	3	1	2	0	4	5	2	0	4	6			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:69825267G>T	uc004dyl.3	-	24	2258	c.2096C>A	c.(2095-2097)tCa>tAa	p.S699*	TEX11_uc004dyk.3_Nonsense_Mutation_p.S374*|TEX11_uc004dym.3_Nonsense_Mutation_p.S684*	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	699							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					AAAAGCTGTTGAAGCTTTTCT	0.388													T	69825267	G	T	69825267	4	4	107	1	0	0	0	0	0	1	0	0	15874	1294	45	4	754	4	TEX11	23	69825267	Nonsense_Mutation	SNP	G	TCGA-06-6699-01A-11D-1845-08	20713015	69825267	85445293	75	7234											
IL9R	3581	broad.mit.edu	37	chrX	155239824	155239824	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcaacaacaactactgtgcct	15	4	8	14	0	0	0	0	0	0	0	0	0	0	0	1	0	12	6	1	0	5	1			TCGA-06-6699-01A-11D-1845-08	TCGA-06-6699-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90ba858d-e3bb-40d8-98ee-eeb127c58409	d5b55d58-8b00-41db-8a67-414f0577fc59	g.chrX:155239824A>G	uc004fnv.1	+	8	1495	c.1316A>G	c.(1315-1317)aAc>aGc	p.N439S	IL9R_uc004fnu.1_3'UTR	NM_002186	NP_002177	Q01113	IL9R_HUMAN	Homo sapiens interleukin 9 receptor (IL9R), transcript variant 1, mRNA.	439	Poly-Asn.				cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity	p.N439S(2)		NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					agcagcagcaacaacaacaAC	0.642													G	155239824	A	G	155239824	3	3	107	1	0	0	0	0	1	0	0	0	7766	43	2	3	1350	3	IL9R	23	155239824	Missense_Mutation	SNP	A	TCGA-06-6699-01A-11D-1845-08	85414557	155239824	30736	76	7235											
ZBTB17	7709	broad.mit.edu	37	chr1	16268633	16268633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagaagtccgcgtctgtcTggaacatgaccagtgcctgg	9	9	13	10	2	2	2	0	1	2	1	3	4	3	3	3	2	2	0	3	2	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:16268633T>C	uc001axl.4	-	15	2482	c.2243A>G	c.(2242-2244)cAg>cGg	p.Q748R	ZBTB17_uc010obs.2_Missense_Mutation_p.Q672R|ZBTB17_uc010obq.2_Missense_Mutation_p.Q666R|ZBTB17_uc010obr.2_Missense_Mutation_p.Q755R	NM_003443	NP_003434	Q13105	ZBT17_HUMAN	Homo sapiens zinc finger and BTB domain containing 17 (ZBTB17), transcript variant 2, mRNA.	748	Interaction with HCFC1.				negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CGCGTCTGTCTGGAACATGAC	0.627													C	16268633	T	C	16268633	3	2	108	1	0	0	0	0	1	0	0	0	17628	1580	55	3	172	3	ZBTB17	1	16268633	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08		16268633	232981988	1	7236											
WDR63	126820	broad.mit.edu	37	chr1	85595746	85595746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagcgcaaaaaaattcGtgagcaagaaaagaaagaaa	24	3	9	5	2	0	5	0	1	0	4	1	5	0	5	0	0	3	2	0	0	9	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:85595746G>A	uc001dkt.3	+	21	2674	c.2483G>A	c.(2482-2484)cGt>cAt	p.R828H	WDR63_uc009wcl.3_Missense_Mutation_p.R789H	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	828										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAAAAATTCGTGAGCAAGAA	0.363													A	85595746	G	A	85595746	3	1	108	1	0	0	0	0	1	0	0	0	17416	1145	40	1	2565	1	WDR63	1	85595746	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	69327113	85595746	163654875	2	7237											
NUP210L	91181	broad.mit.edu	37	chr1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctggatgatttccaattCggaatgtgagaacctttaag	12	12	9	8	1	0	2	0	2	0	1	2	5	1	4	3	2	1	0	3	2	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:154062057C>T	uc001fdw.3	-	15	2273	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.R734Q	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423													T	154062057	C	T	154062057	3	4	108	1	0	0	0	0	1	0	0	0	10837	884	31	1	3565	1	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	68466311	154062057	95188564	3	7238											
TAGLN2	8407	broad.mit.edu	37	chr1	159889092	159889092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagttgggatccccagagaAgagcccatcatctcgggcta	10	7	11	13	1	2	2	1	0	1	2	4	4	3	3	4	2	1	2	4	2	2	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:159889092A>G	uc001fun.1	-	3	503	c.430T>C	c.(430-432)Ttc>Ctc	p.F144L		NM_003564	NP_003555	P37802	TAGL2_HUMAN	Homo sapiens transgelin 2 (TAGLN2), mRNA.	144					muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCCCCAGAGAAGAGCCCATCA	0.547													G	159889092	A	G	159889092	3	3	108	1	0	0	0	0	1	0	0	0	15636	72	3	3	177	3	TAGLN2	1	159889092	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	5827035	159889092	89361529	4	7239											
CD244	51744	broad.mit.edu	37	chr1	160811483	160811483	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccttgatgagaagactCaagttcttgactataaaact	13	12	8	8	0	2	4	1	3	1	2	2	5	2	4	1	0	2	2	1	0	5	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:160811483C>G	uc009wtq.3	-	1	495	c.270G>C	c.(268-270)ttG>ttC	p.L90F	CD244_uc001fxa.3_Missense_Mutation_p.L90F|CD244_uc009wtr.3_Missense_Mutation_p.L90F|CD244_uc009wtp.3_Non-coding_Transcript|CD244_uc010pjt.2_Non-coding_Transcript	NM_001166663	NP_001160135	Q9BZW8	CD244_HUMAN	Homo sapiens CD244 molecule, natural killer cell receptor 2B4 (CD244), transcript variant 2, mRNA.	90	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGAGAAGACTCAAGTTCTTGA	0.448													G	160811483	C	G	160811483	3	3	108	1	0	0	0	0	1	0	0	0	3017	825	29	4	874	4	CD244	1	160811483	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	922391	160811483	88439138	5	7240											
HMCN1	83872	broad.mit.edu	37	chr1	186106708	186106708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcatccaaaagaggagtcGtctgtgcaaccagccccttc	11	7	10	13	1	1	1	0	0	1	1	4	2	2	2	4	2	3	2	4	2	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:186106708G>A	uc001grq.1	+	87	13890	c.13661G>A	c.(13660-13662)cGt>cAt	p.R4554H	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R123H	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4554	TSP type-1 1.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGAGGAGTCGTCTGTGCAAC	0.488													A	186106708	G	A	186106708	3	1	108	1	0	0	0	0	1	0	0	0	7275	1145	40	1	14011	1	HMCN1	1	186106708	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	25295225	186106708	63143913	6	7241											
IGFN1	91156	broad.mit.edu	37	chr1	201196177	201196177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctggttcaagaatgacCgcagcctggaaggaaacccc	12	6	10	13	1	2	2	2	1	0	1	2	4	2	4	5	3	2	2	5	3	4	1	rs142381894		TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:201196177C>T	uc001gwc.3	+	22	11084	c.10954C>T	c.(10954-10956)Cgc>Tgc	p.R3652C	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAAGAATGACCGCAGCCTGGA	0.672													T	201196177	C	T	201196177	3	4	108	1	0	0	0	0	1	0	0	0	7648	652	23	1	11040	1	IGFN1	1	201196177	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	15089469	201196177	48054444	7	7242											
C1orf150	148823	broad.mit.edu	37	chr1	247712512	247712512	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgggaaattatctcctgCgaaaactcaggtgagtcttg	12	11	11	7	1	3	2	1	1	2	1	4	4	3	3	1	2	2	0	1	2	4	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:247712512C>T	uc001idf.3	+	0	166	c.19C>T	c.(19-21)Cga>Tga	p.R7*	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	7								p.R7R(2)|p.C127*(1)		breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			TTATCTCCTGCGAAAACTCAG	0.468													T	247712512	C	T	247712512	4	4	108	1	0	0	0	0	0	1	0	0	2024	760	27	1	21	1	C1orf150	1	247712512	Nonsense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	46516335	247712512	1538109	8	7243											
OR2T12	127064	broad.mit.edu	37	chr1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtcagcacaagccaaaCgcaccaacacgggggcctcg	13	3	11	14	3	1	0	1	0	0	0	2	0	1	0	3	2	4	2	3	2	4	0			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr1:248458330C>T	uc010pzj.2	-	0	551	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552													T	248458330	C	T	248458330	3	4	108	1	0	0	0	0	1	0	0	0	11095	536	19	1	414	1	OR2T12	1	248458330	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	745818	248458330	792291	9	7244											
LOC285033	285033	broad.mit.edu	37	chr2	96906137	96906137	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagcaggtaatttcttcCgaattcaaaaactcctcatg	12	13	6	10	2	3	0	2	0	1	0	6	1	5	0	2	1	2	3	2	1	5	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:96906137C>T	uc002svp.1	+	0	687	c.76C>T	c.(76-78)Cga>Tga	p.R26*	LOC285033_uc002svn.2_Non-coding_Transcript	NM_001037228	NP_001032305	Q3KRF4	Q3KRF4_HUMAN	Homo sapiens uncharacterized LOC285033 (LOC285033), mRNA.	26																	TAATTTCTTCCGAATTCAAAA	0.408													T	96906137	C	T	96906137	4	4	108	1	0	0	0	0	0	1	0	0	8938	644	23	1	78	1	LOC285033	2	96906137	Nonsense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		96906137	146293236	10	7245											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530374	125530374	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttcctttccggtttcAgctccttcagagatcacctt	5	17	6	13	1	3	1	3	0	0	1	6	2	6	1	4	1	1	3	4	1	0	6			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr2:125530374A>T	uc010flu.3	+	17	2898	c.2534_splice	c.e17-2	p.S845_splice	CNTNAP5_uc002tno.3_Splice_Site_p.S844_splice	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	844	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TTCCGGTTTCAGCTCCTTCAG	0.458													T	125530374	A	T	125530374	5	4	108	1	0	0	0	0	0	0	1	0	3681	202	7	5	2595	5	CNTNAP5	2	125530374	Splice_Site	SNP	A	TCGA-06-6700-01A-12D-1845-08	28624237	125530374	117668999	11	7246											
ANKRD28	23243	broad.mit.edu	37	chr3	15712040	15712040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccacatccttattgggagCacaggccaaagctggggtat	11	8	12	10	0	0	0	0	0	0	0	1	1	1	1	3	4	3	3	3	4	3	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:15712040C>T	uc003caj.1	-	27	3042	c.2899G>A	c.(2899-2901)Gct>Act	p.A967T	ANKRD28_uc003cai.1_Missense_Mutation_p.A813T|ANKRD28_uc011avz.1_Missense_Mutation_p.A813T|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011avy.1_Missense_Mutation_p.A47T	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	967						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						TTATTGGGAGCACAGGCCAAA	0.398													T	15712040	C	T	15712040	3	4	108	1	0	0	0	0	1	0	0	0	656	710	25	2	266	2	ANKRD28	3	15712040	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		15712040	182310390	12	7247											
OXNAD1	92106	broad.mit.edu	37	chr3	16343240	16343240	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgcaggaggagtcggAattaaccctctgctttccat	9	13	10	9	1	1	1	0	1	1	0	3	4	2	4	2	3	3	2	2	3	2	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:16343240A>G	uc011awb.2	+	5	714	c.594A>G	c.(592-594)ggA>ggG	p.G198G	OXNAD1_uc010her.2_Non-coding_Transcript|OXNAD1_uc003caw.3_Silent_p.G180G|OXNAD1_uc003cax.3_Silent_p.G180G	NM_138381	NP_612390	Q96HP4	OXND1_HUMAN	Homo sapiens oxidoreductase NAD-binding domain containing 1 (OXNAD1), mRNA.	180							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	13						GAGGAGTCGGAATTAACCCTC	0.483													G	16343240	A	G	16343240	2	3	108	1	0	0	0	0	0	0	0	1	11409	233	9	3		3	OXNAD1	3	16343240	Silent	SNP	A	TCGA-06-6700-01A-12D-1845-08	631200	16343240	181679190	13	7248											
ZNF619	285267	broad.mit.edu	37	chr3	40529457	40529457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaggaagaaactcatcaatGgaacagggctatccgcagtt	14	8	10	9	1	2	1	2	0	0	1	3	3	3	3	1	3	2	3	1	3	6	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:40529457G>A	uc011azb.2	+	5	1883	c.1576G>A	c.(1576-1578)Gga>Aga	p.G526R	ZNF619_uc011aza.2_Missense_Mutation_p.G428R|ZNF619_uc011azc.2_Missense_Mutation_p.G486R|ZNF619_uc011azd.2_Missense_Mutation_p.G442R|ZNF619_uc003ckj.3_Missense_Mutation_p.G470R|ZNF619_uc021wwh.1_Missense_Mutation_p.G477R	NM_001145082	NP_001138554	E9PCD9	E9PCD9_HUMAN	Homo sapiens zinc finger protein 619 (ZNF619), transcript variant 1, mRNA.	526					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		ACTCATCAATGGAACAGGGCT	0.537													A	40529457	G	A	40529457	3	1	108	1	0	0	0	0	1	0	0	0	18144	1349	47	2	1616	2	ZNF619	3	40529457	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	24186217	40529457	157492973	14	7249											
RBM15B	29890	broad.mit.edu	37	chr3	51430156	51430156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgagagtttgaccgctttggGagcattcggaccattgatca	9	11	12	9	3	1	3	1	2	0	1	2	6	1	5	2	2	1	3	2	2	0	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr3:51430156G>A	uc003dbd.3	+	0	1458	c.1326G>A	c.(1324-1326)ggG>ggA	p.G442G		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	442	RRM 3.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		ACCGCTTTGGGAGCATTCGGA	0.572													A	51430156	G	A	51430156	2	1	108	1	0	0	0	0	0	0	0	1	13205	1161	41	2		2	RBM15B	3	51430156	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	10900699	51430156	146592274	15	7250											
UGT8	7368	broad.mit.edu	37	chr4	115544445	115544445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaatttgacctgctgctgGtggaccctaatgatatgtgt	11	13	10	7	0	0	2	0	2	0	0	0	3	0	3	2	2	2	2	2	2	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:115544445G>C	uc003ibs.2	+	1	931	c.409G>C	c.(409-411)Gtg>Ctg	p.V137L	UGT8_uc003ibt.2_Missense_Mutation_p.V137L|UGT8_uc011cge.1_Non-coding_Transcript	NM_001128174	NP_003351	Q16880	CGT_HUMAN	Homo sapiens UDP glycosyltransferase 8 (UGT8), transcript variant 1, mRNA.	137					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		CCTGCTGCTGGTGGACCCTAA	0.438													C	115544445	G	C	115544445	3	2	108	1	0	0	0	0	1	0	0	0	17067	1261	44	4	411	4	UGT8	4	115544445	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		115544445	75609831	16	7251											
ODZ3	55714	broad.mit.edu	37	chr4	183714528	183714528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgacggcctgggaaggCgtgtttctagcaaaaccagt	10	10	13	8	2	1	1	0	1	1	0	1	2	1	2	2	3	2	3	2	3	5	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr4:183714528C>T	uc003ivd.1	+	24	6778	c.6703C>T	c.(6703-6705)Cgt>Tgt	p.R2235C		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2235					signal transduction	integral to membrane		p.R2235C(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCTGGGAAGGCGTGTTTCTAG	0.453													T	183714528	C	T	183714528	3	4	108	1	0	0	0	0	1	0	0	0	10912	768	27	1	6801	1	ODZ3	4	183714528	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	68170083	183714528	7439748	17	7252											
MARCH6	10299	broad.mit.edu	37	chr5	10394249	10394249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgaagagcttacatgGgaaagagtaagacctttttc	12	11	11	7	0	0	4	0	1	0	3	1	5	0	5	1	1	3	4	1	1	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:10394249G>A	uc003jet.1	+	7	1005	c.822G>A	c.(820-822)tgG>tgA	p.W274*	MARCH6_uc011cmu.1_Nonsense_Mutation_p.W226*|MARCH6_uc003jeu.1_5'UTR|MARCH6_uc011cmv.1_Nonsense_Mutation_p.W169*	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	274					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						AGCTTACATGGGAAAGAGTAA	0.303													A	10394249	G	A	10394249	4	1	108	1	0	0	0	0	0	1	0	0	9380	1241	43	2	852	2	MARCH6	5	10394249	Nonsense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		10394249	170521011	18	7253											
SLC26A2	1836	broad.mit.edu	37	chr5	149360771	149360771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttggggtttgtttttctAtattttgtgtcatcctccgc	3	22	9	7	1	2	0	1	0	1	0	4	0	4	0	2	2	0	3	2	2	2	9			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr5:149360771A>G	uc003lrh.3	+	2	1883	c.1615A>G	c.(1615-1617)Ata>Gta	p.I539V		NM_000112	NP_000103	P50443	S26A2_HUMAN	Homo sapiens solute carrier family 26 (sulfate transporter), member 2 (SLC26A2), mRNA.	539						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTGTTTTTCTATATTTTGTGT	0.423													G	149360771	A	G	149360771	3	3	108	1	0	0	0	0	1	0	0	0	14611	449	16	3	1621	3	SLC26A2	5	149360771	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	138966522	149360771	31554489	19	7254											
VARS	7407	broad.mit.edu	37	chr6	31746760	31746760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttggcttcatctgccTcctggacttcgagcggcacc	6	10	9	16	2	2	0	1	0	1	0	4	2	3	1	4	3	2	2	4	3	0	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:31746760T>C	uc003nxe.3	-	28	4133	c.3710A>G	c.(3709-3711)gAg>gGg	p.E1237G	VWA7_uc011dog.2_5'Flank|VWA7_uc003nxd.2_5'Flank|VWA7_uc011doh.1_5'Flank|VARS_uc021yuy.1_Missense_Mutation_p.E174G	NM_006295	NP_006286	P26640	SYVC_HUMAN	Homo sapiens valyl-tRNA synthetase (VARS), nuclear gene encoding mitochondrial protein, mRNA.	1237					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TTCATCTGCCTCCTGGACTTC	0.637													C	31746760	T	C	31746760	3	2	108	1	0	0	0	0	1	0	0	0	17225	1551	54	3	92	3	VARS	6	31746760	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08		31746760	139368307	20	7255											
SLC22A7	10864	broad.mit.edu	37	chr6	43269393	43269393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacctgttccgcacaccaCggctccgacacatctcactg	9	8	7	17	3	1	1	1	0	1	1	4	2	3	1	4	1	0	3	4	1	1	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:43269393C>T	uc021yzt.1	+	6	1123	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	SLC22A7_uc010jyl.1_Missense_Mutation_p.R343W|SLC22A7_uc003ous.3_Missense_Mutation_p.R340W|SLC22A7_uc003out.3_Missense_Mutation_p.R340W	NM_153320	NP_696961	Q9Y694	S22A7_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 7 (SLC22A7), transcript variant 2, mRNA.	342						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CCGCACACCACGGCTCCGACA	0.617													T	43269393	C	T	43269393	3	4	108	1	0	0	0	0	1	0	0	0	14553	527	19	1	1046	1	SLC22A7	6	43269393	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	11522633	43269393	127845674	21	7256											
GFRAL	389400	broad.mit.edu	37	chr6	55264168	55264168	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttttctttttctaggAgaagtaatctatgctgccat	10	18	6	7	0	4	1	0	0	4	1	4	2	4	1	1	1	2	2	1	1	5	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:55264168A>T	uc003pcm.1	+	8	1135	c.1049_splice	c.e8-1	p.G350_splice		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	350						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTTTTCTAGGAGAAGTAATCT	0.313													T	55264168	A	T	55264168	2	4	108	1	0	0	0	0	0	0	0	1	6407	318	11	5		5	GFRAL	6	55264168	Silent	SNP	A	TCGA-06-6700-01A-12D-1845-08	11994775	55264168	115850899	22	7257											
IMPG1	3617	broad.mit.edu	37	chr6	76731930	76731930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggcccaagtgagacgttgGcaacatctgtgaaaatttta	14	10	10	7	1	1	2	0	2	1	1	1	3	1	2	1	2	1	2	1	2	6	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:76731930G>A	uc003pik.1	-	5	699	c.569C>T	c.(568-570)gCc>gTc	p.A190V		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	190					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TGAGACGTTGGCAACATCTGT	0.378													A	76731930	G	A	76731930	3	1	108	1	0	0	0	0	1	0	0	0	7786	1203	42	2	1872	2	IMPG1	6	76731930	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	21467762	76731930	94383137	23	7258											
SLC22A3	6581	broad.mit.edu	37	chr6	160828117	160828117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctatcctgccttggtgttgGcgtcactggggttgtggtgg	2	14	17	8	1	1	0	1	0	0	0	2	0	2	0	2	6	1	3	2	6	1	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr6:160828117G>A	uc003qti.3	+	2	605	c.578G>A	c.(577-579)gGc>gAc	p.G193D	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	193						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CTTGGTGTTGGCGTCACTGGG	0.473													A	160828117	G	A	160828117	3	1	108	1	0	0	0	0	1	0	0	0	14549	1203	42	2	588	2	SLC22A3	6	160828117	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	84096187	160828117	10286950	24	7259											
EGFR	1956	broad.mit.edu	37	chr7	55268881	55268881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaaaatctctgcaccagGgggatgaaagaatgcatttg	13	9	10	9	0	2	2	1	1	1	1	3	3	2	3	2	2	2	2	2	2	4	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:55268881G>A	uc003tqk.3	+	25	3193	c.2947_splice	c.e25-1	p.G983_splice	EGFR_uc022adm.1_Splice_Site_p.G983_splice|EGFR_uc010kzg.2_Splice_Site_p.G938_splice|EGFR_uc022adn.1_Splice_Site_p.G938_splice|EGFR_uc011kco.2_Splice_Site_p.G930_splice	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	983					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTGCACCAGGGGGATGAAAG	0.512		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55268881	G	A	55268881	3	1	108	1	0	0	0	0	1	0	0	0	5006	1246	43	2	3309	2	EGFR	7	55268881	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		55268881	103869782	25	7260											
PCLO	27445	broad.mit.edu	37	chr7	82595087	82595087	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagtaaaatttaacttacTgttttttctttcccaggttc	9	20	5	7	0	1	0	0	0	1	0	3	0	2	0	1	1	2	4	1	1	5	10			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:82595087T>C	uc003uhx.2	-	4	4306	c.4017_splice	c.e4+1	p.T1339_splice	PCLO_uc003uhv.2_Splice_Site_p.T1339_splice	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1270					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTAACTTACTGTTTTTTCTT	0.338													C	82595087	T	C	82595087	2	2	108	1	0	0	0	0	0	0	0	1	11659	1594	55	3		3	PCLO	7	82595087	Silent	SNP	T	TCGA-06-6700-01A-12D-1845-08	27326206	82595087	76543576	26	7261											
AKR1B10	57016	broad.mit.edu	37	chr7	134222353	134222353	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaagccagaagacccttcCctgctggaggatcccaagat	11	6	10	14	0	0	3	0	0	0	3	2	5	2	5	5	2	2	1	5	2	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:134222353C>G	uc003vrr.3	+	6	1001	c.681C>G	c.(679-681)tcC>tcG	p.S227S		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	227					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AAGACCCTTCCCTGCTGGAGG	0.463													G	134222353	C	G	134222353	2	3	108	1	0	0	0	0	0	0	0	1	467	610	22	4		4	AKR1B10	7	134222353	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	51627266	134222353	24916310	27	7262											
EPHA1	2041	broad.mit.edu	37	chr7	143097029	143097029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacccgggttgtggaaagCgaggtagaggccacggcggg	8	4	20	9	4	0	1	0	0	0	1	0	3	0	2	2	7	1	3	2	7	2	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:143097029C>T	uc003wcz.3	-	3	637	c.550G>A	c.(550-552)Gct>Act	p.A184T		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	184						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTGTGGAAAGCGAGGTAGAGG	0.617													T	143097029	C	T	143097029	3	4	108	1	0	0	0	0	1	0	0	0	5206	768	27	1	2440	1	EPHA1	7	143097029	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	8874676	143097029	16041634	28	7263											
NCAPG2	54892	broad.mit.edu	37	chr7	158447341	158447341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatctgaaactgatggtCaccaaggcctaccataacaa	14	9	7	11	0	2	2	1	2	1	0	2	2	2	2	3	2	4	1	3	2	5	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr7:158447341C>A	uc011kwe.1	-	21	2837	c.2692G>T	c.(2692-2694)Gac>Tac	p.D898Y	NCAPG2_uc010lqu.1_Missense_Mutation_p.D690Y|NCAPG2_uc003wnx.1_Missense_Mutation_p.D898Y|NCAPG2_uc003wnv.1_Missense_Mutation_p.D898Y|NCAPG2_uc003wnw.1_Non-coding_Transcript|NCAPG2_uc011kwc.1_Missense_Mutation_p.D399Y|NCAPG2_uc011kwd.1_Missense_Mutation_p.D341Y	NM_017760	NP_060230	Q86XI2	CNDG2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit G2 (NCAPG2), mRNA.	898					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		AACTGATGGTCACCAAGGCCT	0.428													A	158447341	C	A	158447341	3	1	108	1	0	0	0	0	1	0	0	0	10284	826	29	4	767	4	NCAPG2	7	158447341	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	15350312	158447341	691322	29	7264											
NKAIN3	286183	broad.mit.edu	37	chr8	63659690	63659691	+	Splice_Site	INS	-	-	A																															gtccaaatactactctctgtINSaagtgtcacttttgtgtcat																										TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr8:63659690_63659691insA	uc010lyq.1	+	4	603	c.471_splice	c.e4+2	p.S157_splice		NM_173688	NP_775959	Q8N8D7	NKAI3_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 3 (NKAIN3), mRNA.	157						integral to membrane|plasma membrane				kidney(3)|large_intestine(2)|lung(8)	13	Breast(64;0.127)	Lung NSC(129;0.187)				CTACTCTCTGTAAGTGTCACTT	0.441													A	63659691	-	A	63659690	8	5	108	1	0	1	1	0	0	0	1	0	10513	1652	57	0	487	0	NKAIN3	8	63659690	Splice_Site	INS	-	TCGA-06-6700-01A-12D-1845-08		63659690	82704332	30	7265											
OR10A6	390093	broad.mit.edu	37	chr11	7949287	7949287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agattgtgtgtaaaaccactCgccttcgccataatttcatc	11	13	6	11	2	1	1	1	0	0	1	4	1	1	1	3	0	1	1	3	0	3	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:7949287C>T	uc010rbh.2	-	0	923	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAAAACCACTCGCCTTCGCCA	0.363													T	7949287	C	T	7949287	3	4	108	1	0	0	0	0	1	0	0	0	10970	884	31	1	24	1	OR10A6	11	7949287	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		7949287	127057229	31	7266											
AMBRA1	55626	broad.mit.edu	37	chr11	46439460	46439461	+	Splice_Site	INS	-	-	A																															ccccacactttaagccacttINSactctggtcggcagatcacc																										TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:46439460_46439461insA	uc001ncv.2	-	17	3439	c.3125_splice	c.e17+1	p.E1042_splice	AMBRA1_uc010rgt.1_Splice_Site_p.E605_splice|AMBRA1_uc009ylc.1_Splice_Site_p.E1010_splice|AMBRA1_uc001ncu.1_Splice_Site_p.E949_splice|AMBRA1_uc010rgu.1_Splice_Site_p.E1039_splice|AMBRA1_uc001ncw.2_Splice_Site_p.E920_splice|AMBRA1_uc001ncx.2_Splice_Site_p.E979_splice	NM_017749	NP_060219	Q9C0C7	AMRA1_HUMAN	Homo sapiens autophagy/beclin-1 regulator 1 (AMBRA1), mRNA.	1039					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		TTAAGCCACTTACTCTGGTCGG	0.525													A	46439461	-	A	46439460	8	5	108	1	0	1	1	0	0	0	1	0	565	1769	61	0		0	AMBRA1	11	46439460	Splice_Site	INS	-	TCGA-06-6700-01A-12D-1845-08	38490173	46439460	88567056	32	7267											
OR5A1	219982	broad.mit.edu	37	chr11	59211010	59211010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgactgctatggcataCgaccgatatgcagccatctc	9	10	8	14	2	1	1	0	1	1	0	3	3	2	1	3	1	4	3	3	1	3	3	rs139346783	byFrequency	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59211010C>T	uc001nnx.1	+	0	369	c.369C>T	c.(367-369)taC>taT	p.Y123Y		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTATGGCATACGACCGATATG	0.542													T	59211010	C	T	59211010	2	4	108	1	0	0	0	0	0	0	0	1	11215	547	19	1		1	OR5A1	11	59211010	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	12771550	59211010	75795506	33	7268											
STX3	6809	broad.mit.edu	37	chr11	59564776	59564776	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattgataattatcattgtGctagtagttgtgttgctggg	10	17	11	3	0	1	1	1	1	0	0	1	1	1	1	0	1	2	5	0	1	5	8			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:59564776G>T	uc001nog.3	+	9	1354	c.807G>T	c.(805-807)gtG>gtT	p.V269V	STX3_uc010rkx.2_Intron|STX3_uc010rky.2_Intron|STX3_uc009ymt.1_Silent_p.V135V	NM_004177	NP_004168	Q13277	STX3_HUMAN	Homo sapiens syntaxin 3 (STX3), transcript variant 1, mRNA.	269					cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						TTATCATTGTGCTAGTAGTTG	0.363													T	59564776	G	T	59564776	2	4	108	1	0	0	0	0	0	0	0	1	15442	1306	46	4		4	STX3	11	59564776	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	353766	59564776	75441740	34	7269											
SLC3A2	6520	broad.mit.edu	37	chr11	62652817	62652817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgccactggcaatcgctgGtgcagctggagtgtgagtac	9	9	14	9	1	0	1	0	1	0	0	1	2	0	2	1	3	4	5	1	3	3	1			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr11:62652817G>T	uc001nwd.3	+	8	1548	c.1290G>T	c.(1288-1290)tgG>tgT	p.W430C	SLC3A2_uc001nwc.3_Missense_Mutation_p.W431C|SLC3A2_uc001nwf.3_Missense_Mutation_p.W368C|SLC3A2_uc001nwg.3_Missense_Mutation_p.W329C	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	430					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						GCAATCGCTGGTGCAGCTGGA	0.517													T	62652817	G	T	62652817	3	4	108	1	0	0	0	0	1	0	0	0	14721	1270	44	4	1424	4	SLC3A2	11	62652817	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	3088041	62652817	72353699	35	7270											
MFAP5	8076	broad.mit.edu	37	chr12	8813465	8813465	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggttcacctacctcctcGttgactattgacccccaggg	8	10	9	14	1	1	2	1	2	0	0	3	2	2	2	5	2	1	2	5	2	3	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:8813465G>A	uc001qut.1	-	2	301	c.88C>T	c.(88-90)Cga>Tga	p.R30*	MFAP5_uc001qus.2_Nonsense_Mutation_p.R30*|MFAP5_uc009zge.1_Nonsense_Mutation_p.R30*	NM_003480	NP_003471	Q13361	MFAP5_HUMAN	Homo sapiens microfibrillar associated protein 5 (MFAP5), mRNA.	30						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					CTACCTCCTCGTTGACTATTG	0.438													A	8813465	G	A	8813465	4	1	108	1	0	0	0	0	0	1	0	0	9593	1153	40	1	465	1	MFAP5	12	8813465	Nonsense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		8813465	125038430	36	7271											
CD63	967	broad.mit.edu	37	chr12	56120552	56120552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaattctccatctgctgccGgaagttgttattaaactctg	9	15	8	9	1	3	0	0	0	3	0	4	1	3	1	2	1	3	4	2	1	5	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:56120552G>A	uc001shn.3	-	4	543	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CD63_uc009znz.3_Missense_Mutation_p.R97W|CD63_uc001sho.3_Missense_Mutation_p.R120W	NM_001780	NP_001771	P08962	CD63_HUMAN	Homo sapiens CD63 molecule (CD63), transcript variant 1, mRNA.	120					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane		p.R120W(2)		kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ATCTGCTGCCGGAAGTTGTTA	0.557													A	56120552	G	A	56120552	3	1	108	1	0	0	0	0	1	0	0	0	3059	1115	39	1	374	1	CD63	12	56120552	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	47307087	56120552	77731343	37	7272											
TMEM132B	114795	broad.mit.edu	37	chr12	126138636	126138636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagatgcctttacaagcttcCccactcaagggaagtcaccg	11	8	8	14	1	2	1	2	0	0	1	3	2	3	2	4	1	3	1	4	1	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:126138636C>T	uc001uhe.1	+	8	2625	c.2617C>T	c.(2617-2619)Ccc>Tcc	p.P873S	TMEM132B_uc001uhf.1_Missense_Mutation_p.P385S	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	873						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TACAAGCTTCCCCACTCAAGG	0.507													T	126138636	C	T	126138636	3	4	108	1	0	0	0	0	1	0	0	0	16146	623	22	2	2651	2	TMEM132B	12	126138636	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	70018084	126138636	7713259	38	7273											
EP400	57634	broad.mit.edu	37	chr12	132514624	132514624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatgattcttatgttggAcattttagagatgttcttga	11	17	9	4	0	2	4	0	2	2	2	2	6	2	5	0	1	0	2	0	1	2	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr12:132514624A>G	uc001ujn.3	+	28	5827	c.5675A>G	c.(5674-5676)gAc>gGc	p.D1892G	EP400_uc021rgq.1_Missense_Mutation_p.D1891G|EP400_uc001ujm.3_Missense_Mutation_p.D1811G|SNORA49_uc001ujo.3_5'Flank	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1928					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		CTTATGTTGGACATTTTAGAG	0.413													G	132514624	A	G	132514624	3	3	108	1	0	0	0	0	1	0	0	0	5190	275	10	3	5782	3	EP400	12	132514624	Missense_Mutation	SNP	A	TCGA-06-6700-01A-12D-1845-08	6375988	132514624	1337271	39	7274											
FLT1	2321	broad.mit.edu	37	chr13	28896953	28896953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcaacatcactcagaCttttatcttcctgaaagccg	10	13	4	14	1	4	2	3	1	1	1	6	2	6	2	3	0	2	0	3	0	3	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:28896953C>T	uc001usb.3	-	20	3212	c.2927G>A	c.(2926-2928)aGt>aAt	p.S976N	FLT1_uc010aap.2_5'Flank|FLT1_uc010aaq.2_Missense_Mutation_p.S101N|FLT1_uc001usa.3_Missense_Mutation_p.S194N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	976	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	ATCACTCAGACTTTTATCTTC	0.438													T	28896953	C	T	28896953	3	4	108	1	0	0	0	0	1	0	0	0	5990	565	20	2	1129	2	FLT1	13	28896953	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08		28896953	86272925	40	7275											
PCCA	5095	broad.mit.edu	37	chr13	100915068	100915068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaatttattgataatcctCgtcatatagaaatccaggtt	16	14	5	6	1	1	2	1	1	0	1	4	2	3	2	2	1	0	1	2	1	7	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:100915068C>T	uc001voo.3	+	9	908	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	PCCA_uc010aga.3_Missense_Mutation_p.R242C|PCCA_uc010tiz.2_Missense_Mutation_p.R268C	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	268	ATP-grasp.|Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.R268H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TGATAATCCTCGTCATATAGA	0.279													T	100915068	C	T	100915068	3	4	108	1	0	0	0	0	1	0	0	0	11580	884	31	1	840	1	PCCA	13	100915068	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	72018115	100915068	14254810	41	7276											
GRTP1	79774	broad.mit.edu	37	chr13	114009782	114009782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcgggacccctttccGgacatagcgcttcactgaag	8	8	10	15	3	1	1	1	1	0	0	3	3	3	3	4	2	2	1	4	2	2	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr13:114009782G>A	uc010tkc.2	-	2	293	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	GRTP1_uc001vtn.3_Missense_Mutation_p.R66W|GRTP1_uc010tkb.2_5'UTR|GRTP1_uc010agv.1_Non-coding_Transcript	NM_024719	NP_078995	Q5TC63	GRTP1_HUMAN	Homo sapiens growth hormone regulated TBC protein 1 (GRTP1), mRNA.	66						intracellular	Rab GTPase activator activity	p.R66W(2)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	14	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0314)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0978)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			ACCCCTTTCCGGACATAGCGC	0.657													A	114009782	G	A	114009782	3	1	108	1	0	0	0	0	1	0	0	0	6865	1115	39	1	838	1	GRTP1	13	114009782	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	13094714	114009782	1160096	42	7277											
CMA1	1215	broad.mit.edu	37	chr14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacaatgagcagccGtcagcacaaagttccgtctt	10	10	8	13	2	2	1	1	1	1	0	4	1	4	1	3	0	4	4	3	0	2	3	rs13306251	by1000genomes	TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr14:24976583G>A	uc001wpp.1	-	1	218	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CMA1_uc010alx.1_Intron	NM_001836	NP_001827	P23946	CMA1_HUMAN	Homo sapiens chymase 1, mast cell (CMA1), mRNA.	63	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													A	24976583	G	A	24976583	3	1	108	1	0	0	0	0	1	0	0	0	3605	1145	40	1	571	1	CMA1	14	24976583	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		24976583	82372957	43	7278											
GABRA5	2558	broad.mit.edu	37	chr15	27193304	27193304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtattcccagtcttgttcgGcactttcaacttagtttact	7	17	6	11	2	2	0	1	0	1	0	4	0	3	0	1	1	2	4	1	1	4	8			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:27193304G>A	uc001zbd.2	+	10	1845	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	GABRA5_uc021sgi.1_Missense_Mutation_p.G438D|GABRA5_uc001zbe.1_Non-coding_Transcript	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	438					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCTTGTTCGGCACTTTCAAC	0.438													A	27193304	G	A	27193304	3	1	108	1	0	0	0	0	1	0	0	0	6216	1203	42	2	1347	2	GABRA5	15	27193304	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		27193304	75338088	44	7279											
PCSK6	5046	broad.mit.edu	37	chr15	101971636	101971636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctggacattcatttcCgaccggcagcgactgttctt	6	12	10	13	3	2	0	1	0	1	0	3	3	3	1	3	2	2	3	3	2	0	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr15:101971636C>T	uc002bxa.2	-	4	857	c.543G>A	c.(541-543)tcG>tcA	p.S181S	PCSK6_uc010bpd.3_Silent_p.S52S|PCSK6_uc002bwy.3_Silent_p.S181S|PCSK6_uc010bpe.3_Silent_p.S178S|PCSK6_uc002bxb.2_Silent_p.S181S|PCSK6_uc002bxc.1_Silent_p.S181S|PCSK6_uc002bxd.1_Silent_p.S181S|PCSK6_uc002bxe.3_Silent_p.S181S|PCSK6_uc002bxg.1_Silent_p.S181S	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	182	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.R180W(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CATTCATTTCCGACCGGCAGC	0.532													T	101971636	C	T	101971636	2	4	108	1	0	0	0	0	0	0	0	1	11680	639	23	1		1	PCSK6	15	101971636	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08	74778332	101971636	559756	45	7280											
EDC4	23644	broad.mit.edu	37	chr16	67917522	67917522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtatgtgtgtgaaactgtgGacccagcccaggtttttggg	7	13	14	7	0	0	1	0	1	0	0	0	2	0	2	2	3	2	2	2	3	2	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:67917522G>A	uc002eur.3	+	27	4140	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	EDC4_uc010cer.3_Missense_Mutation_p.D920N|EDC4_uc002eus.3_Missense_Mutation_p.D1031N|EDC4_uc002eut.1_3'UTR|NRN1L_uc002euu.3_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	1301					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		TGAAACTGTGGACCCAGCCCA	0.547											OREG0023890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	67917522	G	A	67917522	3	1	108	1	0	0	0	0	1	0	0	0	4947	1174	41	2	4011	2	EDC4	16	67917522	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		67917522	22437231	46	7281											
PDPR	55066	broad.mit.edu	37	chr16	70172800	70172800	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgccctctgtctatatAggtaccttgccgaatggatg	8	12	10	11	2	2	0	0	0	2	0	2	2	2	1	3	2	3	1	3	2	5	5			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr16:70172800A>G	uc002eyf.1	+	11	2148	c.1191_splice	c.e11-2	p.K397_splice	CLEC18A_uc002exy.3_Intron|PDPR_uc010vlr.1_Splice_Site_p.K297_splice|PDPR_uc002eyg.1_Splice_Site_p.K125_splice	NM_017990	NP_060460	Q8NCN5	PDPR_HUMAN	Homo sapiens pyruvate dehydrogenase phosphatase regulatory subunit (PDPR), mRNA.	397					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGTCTATATAGGTACCTTGC	0.443													G	70172800	A	G	70172800	5	3	108	1	0	0	0	0	0	0	1	0	11765	434	15	3	1223	3	PDPR	16	70172800	Splice_Site	SNP	A	TCGA-06-6700-01A-12D-1845-08	2255278	70172800	20181953	47	7282											
PIK3R5	23533	broad.mit.edu	37	chr17	8784974	8784974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccttcttggatttggaGttctgccttttcaccacttc	6	16	7	12	0	3	0	1	0	2	0	4	2	3	2	3	2	2	1	3	2	1	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:8784974G>A	uc002glt.3	-	16	2422	c.2355C>T	c.(2353-2355)aaC>aaT	p.N785N	PIK3R5_uc010vuz.2_Silent_p.N785N|PIK3R5_uc021tqc.1_Silent_p.N399N|PIK3R5_uc010cob.2_Silent_p.N399N|PIK3R5_uc010coa.2_Silent_p.N399N|PIK3R5_uc002glu.4_Silent_p.N399N	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	785					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						TGGATTTGGAGTTCTGCCTTT	0.547													A	8784974	G	A	8784974	2	1	108	1	0	0	0	0	0	0	0	1	11999	1020	36	2		2	PIK3R5	17	8784974	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		8784974	72410236	48	7283											
SPACA3	124912	broad.mit.edu	37	chr17	31322667	31322667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccaagctctacggtcGttgtgaactggccagagtgc	8	9	14	10	2	1	3	0	2	1	1	2	3	1	3	2	3	4	2	2	3	3	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:31322667G>A	uc002hhs.1	+	1	350	c.275G>A	c.(274-276)cGt>cAt	p.R92H	SPACA3_uc010cte.1_Non-coding_Transcript	NM_173847	NP_776246	Q8IXA5	SACA3_HUMAN	Homo sapiens sperm acrosome associated 3 (SPACA3), mRNA.	92					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding	p.R92H(2)		breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			CTCTACGGTCGTTGTGAACTG	0.617													A	31322667	G	A	31322667	3	1	108	1	0	0	0	0	1	0	0	0	15067	1145	40	1	281	1	SPACA3	17	31322667	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	22537693	31322667	49872543	49	7284											
C17orf57	124989	broad.mit.edu	37	chr17	45490276	45490276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccttaactgttgtaacGtcagtggtgagcattttttt	9	16	9	7	1	1	1	1	1	0	0	1	1	1	1	1	1	4	3	1	1	3	6			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:45490276G>A	uc002iln.3	+	21	2847	c.2416G>A	c.(2416-2418)Gtc>Atc	p.V806I	C17orf57_uc002ilm.3_Missense_Mutation_p.V710I	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	806	EF-hand 5.						calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						CTGTTGTAACGTCAGTGGTGA	0.353													A	45490276	G	A	45490276	3	1	108	1	0	0	0	0	1	0	0	0	1881	1145	40	1	2490	1	C17orf57	17	45490276	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	14167609	45490276	35704934	50	7285											
SPAG9	9043	broad.mit.edu	37	chr17	49071128	49071128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatgactcactcttacctgGcacacttgcaatgcacagaa	12	9	7	13	0	2	2	1	1	1	1	2	2	2	2	1	1	3	4	1	1	3	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr17:49071128G>A	uc002itc.3	-	18	2604	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	SPAG9_uc002itd.3_Missense_Mutation_p.P789S|SPAG9_uc002itb.3_Missense_Mutation_p.P785S|SPAG9_uc002itf.3_Missense_Mutation_p.P620S|SPAG9_uc002ita.3_Missense_Mutation_p.P642S|SPAG9_uc002ite.3_Missense_Mutation_p.P629S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	799					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCTTACCTGGCACACTTGCA	0.483													A	49071128	G	A	49071128	3	1	108	1	0	0	0	0	1	0	0	0	15081	1203	42	2	1618	2	SPAG9	17	49071128	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	3580852	49071128	32124082	51	7286											
C18orf34	374864	broad.mit.edu	37	chr18	30825371	30825371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatattttatttcagattcGtattttgattttttccgtat	10	23	4	4	2	1	2	1	1	0	1	3	2	2	2	1	0	0	2	1	0	5	12			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:30825371G>A	uc010xbr.1	-	13	1573	c.1431C>T	c.(1429-1431)taC>taT	p.Y477Y	C18orf34_uc010dme.1_5'UTR|C18orf34_uc002kxn.2_Silent_p.Y477Y|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Silent_p.Y477Y|C18orf34_uc002kxp.3_Silent_p.Y477Y	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	477										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTTCAGATTCGTATTTTGATT	0.259													A	30825371	G	A	30825371	2	1	108	1	0	0	0	0	0	0	0	1	1920	1140	40	1		1	C18orf34	18	30825371	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		30825371	47251877	52	7287											
CELF4	56853	broad.mit.edu	37	chr18	35145598	35145598	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctaacgtggccatctttaTatacatagagaaaatcttct	13	14	6	8	1	3	1	0	0	3	1	3	2	3	1	1	1	3	1	1	1	7	7			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:35145598T>A	uc002lae.2	-	0	403	c.7A>T	c.(7-9)Ata>Tta	p.I3L	CELF4_uc021uix.1_Missense_Mutation_p.I3L|CELF4_uc021uiy.1_Missense_Mutation_p.I3L|CELF4_uc002lag.2_Missense_Mutation_p.I3L|CELF4_uc002laf.2_5'UTR|CELF4_uc002lai.2_5'UTR	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	3	Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						GCCATCTTTATATACATAGAG	0.537													A	35145598	T	A	35145598	3	1	108	1	0	0	0	0	1	0	0	0	3248	1406	49	5	1501	5	CELF4	18	35145598	Missense_Mutation	SNP	T	TCGA-06-6700-01A-12D-1845-08	4320227	35145598	42931650	53	7288											
SERPINB3	6318	broad.mit.edu	37	chr18	61306946	61306946	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctttgaaatagattgcGttcacaagaaccagtgtcgt	11	12	9	9	2	1	3	1	1	0	2	2	3	1	3	2	0	3	1	2	0	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr18:61306946G>A	uc002ljf.3	-	5	620	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB3_uc002lje.3_Silent_p.N178N|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	178					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AATAGATTGCGTTCACAAGAA	0.318													A	61306946	G	A	61306946	2	1	108	1	0	0	0	0	0	0	0	1	14195	1136	40	1		1	SERPINB3	18	61306946	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08	26161348	61306946	16770302	54	7289											
CYP2F1	1572	broad.mit.edu	37	chr19	41630793	41630793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actagggacacggcctttcgCggcttcctgatacccaaggt	8	9	11	13	3	0	1	0	1	0	0	2	2	1	2	3	4	1	1	3	4	3	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:41630793C>T	uc002opu.1	+	7	1190	c.1134C>T	c.(1132-1134)cgC>cgT	p.R378R	CYP2F1_uc010xvv.1_3'UTR|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	378					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CGGCCTTTCGCGGCTTCCTGA	0.597													T	41630793	C	T	41630793	2	4	108	1	0	0	0	0	0	0	0	1	4204	755	27	1		1	CYP2F1	19	41630793	Silent	SNP	C	TCGA-06-6700-01A-12D-1845-08		41630793	17498190	55	7290											
ZNF813	126017	broad.mit.edu	37	chr19	53995185	53995185	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatcaaaaagcacaccttGcacgtcaccatagacttcat	15	10	4	12	1	3	1	3	0	0	1	3	1	3	1	2	0	2	2	2	0	4	4			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:53995185G>T	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.A567S	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		AGCACACCTTGCACGTCACCA	0.378													T	53995185	G	T	53995185	3	4	108	1	0	0	0	0	1	0	0	0	18274	1319	46	4	1709	4	ZNF813	19	53995185	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	12364392	53995185	5133798	56	7291											
NLRP5	126206	broad.mit.edu	37	chr19	56515184	56515184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcaagatggaaggagaCaaatcgctcaccttttccag	13	10	9	9	1	2	2	2	0	0	2	4	4	3	3	2	2	0	2	2	2	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr19:56515184C>A	uc002qmj.3	+	1	165	c.165C>A	c.(163-165)gaC>gaA	p.D55E	NLRP5_uc002qmi.3_Missense_Mutation_p.D55E	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	55						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGGAAGGAGACAAATCGCTCA	0.423													A	56515184	C	A	56515184	3	1	108	1	0	0	0	0	1	0	0	0	10556	477	17	4	171	4	NLRP5	19	56515184	Missense_Mutation	SNP	C	TCGA-06-6700-01A-12D-1845-08	2519999	56515184	2613799	57	7292											
PCK1	5105	broad.mit.edu	37	chr20	56139269	56139269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggctttttcggtgtcGctcctgggacttcagtgaag	8	13	12	8	2	1	1	1	1	0	0	4	2	2	2	1	3	0	2	1	3	3	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:56139269G>A	uc002xyn.4	+	6	1169	c.1006G>A	c.(1006-1008)Gct>Act	p.A336T	PCK1_uc010zzm.2_Missense_Mutation_p.A19T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	336					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TTTCGGTGTCGCTCCTGGGAC	0.493													A	56139269	G	A	56139269	3	1	108	1	0	0	0	0	1	0	0	0	11657	1087	38	1	1028	1	PCK1	20	56139269	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08		56139269	6886251	58	7293											
SLC17A9	63910	broad.mit.edu	37	chr20	61588307	61588307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttgtgggcggccacctcGgggatcggtaactgcccatc	6	8	15	12	3	0	0	0	0	0	0	3	1	0	1	3	6	2	2	3	6	1	2			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chr20:61588307G>A	uc002yea.4	+	1	434	c.250G>A	c.(250-252)Ggg>Agg	p.G84R	SLC17A9_uc002ydz.4_Missense_Mutation_p.G78R|SLC17A9_uc011aap.1_Missense_Mutation_p.G104R	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	84					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCCACCTCGGGGATCGGTA	0.662													A	61588307	G	A	61588307	3	1	108	1	0	0	0	0	1	0	0	0	14518	1116	39	1	256	1	SLC17A9	20	61588307	Missense_Mutation	SNP	G	TCGA-06-6700-01A-12D-1845-08	5449038	61588307	1437213	59	7294											
FTHL17	53940	broad.mit.edu	37	chrX	31089936	31089936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctccagggccacgtcGtcccggttgaagtagaaggc	9	8	13	11	3	1	2	0	1	1	1	4	2	2	2	3	3	0	3	3	3	4	3			TCGA-06-6700-01A-12D-1845-08	TCGA-06-6700-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6da42a38-94dd-49b7-8a03-df0f7174ca6f	a9cc39c8-e3c8-4642-ad0d-1f9a43f21baf	g.chrX:31089936G>A	uc004dcl.1	-	0	235	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	45	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582													A	31089936	G	A	31089936	2	1	108	1	0	0	0	0	0	0	0	1	6135	1136	40	1		1	FTHL17	23	31089936	Silent	SNP	G	TCGA-06-6700-01A-12D-1845-08		31089936	124180624	60	7295											
EPHA10	284656	broad.mit.edu	37	chr1	38197144	38197144	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctcccaggatggcccCggggaagcggcccggatctg	5	5	17	14	3	1	0	0	0	1	0	2	3	2	3	5	7	1	0	5	7	1	0	rs77925917	by1000genomes	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:38197144C>T	uc009vvi.3	-	6	1688	c.1602G>A	c.(1600-1602)ccG>ccA	p.P534P	EPHA10_uc009vvh.2_Non-coding_Transcript|EPHA10_uc001cbu.3_Non-coding_Transcript|EPHA10_uc001cbv.2_Non-coding_Transcript	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	534	Fibronectin type-III 2.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.S534Y(1)|p.P535P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGATGGCCCCGGGGAAGCGG	0.597													T	38197144	C	T	38197144	2	4	109	1	0	0	0	0	0	0	0	1	5207	639	23	1		1	EPHA10	1	38197144	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		38197144	211053477	1	7296											
TMEM69	51249	broad.mit.edu	37	chr1	46159245	46159245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatggagccagtttcctaTctttcttgggtgggatcaga	7	15	11	8	0	3	1	1	0	2	1	4	3	4	3	2	3	1	1	2	3	2	5			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:46159245T>C	uc001cor.1	+	2	608	c.412T>C	c.(412-414)Tct>Cct	p.S138P		NM_016486	NP_057570	Q5SWH9	TMM69_HUMAN	Homo sapiens transmembrane protein 69 (TMEM69), mRNA.	138						integral to membrane				kidney(3)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)					CAGTTTCCTATCTTTCTTGGG	0.443													C	46159245	T	C	46159245	3	2	109	1	0	0	0	0	1	0	0	0	16298	1435	50	3	418	3	TMEM69	1	46159245	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	7962101	46159245	203091376	2	7297											
KIAA1324	57535	broad.mit.edu	37	chr1	109737164	109737164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagggccaagcttcacttCcaaagggctgaaatacttcc	11	9	10	11	0	1	1	1	1	0	0	3	2	3	2	3	3	2	2	3	3	4	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:109737164C>T	uc021orb.1	+	14	2290	c.2069C>T	c.(2068-2070)tCc>tTc	p.S690F	KIAA1324_uc009wex.2_Missense_Mutation_p.S640F|KIAA1324_uc010ovg.2_Missense_Mutation_p.S588F|KIAA1324_uc009wey.3_Missense_Mutation_p.S603F|KIAA1324_uc001dwr.3_Missense_Mutation_p.S340F|KIAA1324_uc001dws.1_5'Flank|KIAA1324_uc009wez.1_5'Flank	NM_020775	NP_065826	Q6UXG2	K1324_HUMAN	Homo sapiens KIAA1324 (KIAA1324), mRNA.	690					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCTTCACTTCCAAAGGGCTG	0.493													T	109737164	C	T	109737164	3	4	109	1	0	0	0	0	1	0	0	0	8281	855	30	2	2127	2	KIAA1324	1	109737164	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	63577919	109737164	139513457	3	7298											
CEP170	9859	broad.mit.edu	37	chr1	243332957	243332957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaggaagaggtgcagaaaAttccattatcctttcttctt	13	14	7	7	0	2	2	0	0	2	2	4	3	4	3	2	2	1	1	2	2	6	6			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr1:243332957A>G	uc021plo.1	-	11	2224	c.1816T>C	c.(1816-1818)Ttt>Ctt	p.F606L	CEP170_uc021plp.1_Missense_Mutation_p.F508L|CEP170_uc021plq.1_Missense_Mutation_p.F508L	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	606						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GGTGCAGAAAATTCCATTATC	0.398													G	243332957	A	G	243332957	3	3	109	1	0	0	0	0	1	0	0	0	3280	101	4	3	3004	3	CEP170	1	243332957	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08	133595793	243332957	5917664	4	7299											
SERTAD2	9792	broad.mit.edu	37	chr2	64863336	64863336	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaattcccaggcagagAgtccatcagttttgagtcat	12	12	8	9	0	3	2	3	1	0	1	5	3	5	2	2	1	0	2	2	1	2	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:64863336A>T	uc021viq.1	-	0	670	c.670T>A	c.(670-672)Tct>Act	p.S224T	SERTAD2_uc002sde.2_Missense_Mutation_p.S224T	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	224					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						CCAGGCAGAGAGTCCATCAGT	0.527													T	64863336	A	T	64863336	3	4	109	1	0	0	0	0	1	0	0	0	14214	304	11	5	278	5	SERTAD2	2	64863336	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08		64863336	178336037	5	7300											
TTC31	64427	broad.mit.edu	37	chr2	74718780	74718780	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagagaggagaggccccAgcagagtccaaaggtacagg	14	3	14	10	0	0	3	0	0	0	3	2	5	2	3	4	4	2	2	4	4	3	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:74718780A>T	uc002slt.2	+	7	880	c.857A>T	c.(856-858)cAg>cTg	p.Q286L	TTC31_uc002sls.2_Missense_Mutation_p.Q215L|TTC31_uc002slu.2_Missense_Mutation_p.Q142L	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	286							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAGAGGCCCCAGCAGAGTCCA	0.597													T	74718780	A	T	74718780	3	4	109	1	0	0	0	0	1	0	0	0	16802	188	7	5	887	5	TTC31	2	74718780	Missense_Mutation	SNP	A	TCGA-06-6701-01A-11D-1845-08	9855444	74718780	168480593	6	7301											
IL18RAP	8807	broad.mit.edu	37	chr2	103067331	103067331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaggattttgatgctttcGtatcctatgcaaaatggagc	13	13	9	6	1	0	1	0	1	0	0	2	3	1	3	1	2	3	3	1	2	6	5			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:103067331G>A	uc002tbx.3	+	10	1718	c.1234G>A	c.(1234-1236)Gta>Ata	p.V412I	IL18RAP_uc010fiz.3_Missense_Mutation_p.V270I	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	412	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.F411F(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGATGCTTTCGTATCCTATGC	0.338													A	103067331	G	A	103067331	3	1	109	1	0	0	0	0	1	0	0	0	7706	1145	40	1	1268	1	IL18RAP	2	103067331	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	28348551	103067331	140132042	7	7302											
ZNF385B	151126	broad.mit.edu	37	chr2	180634432	180634432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggtcctcaggcctgtcGttctttatccccttttcttc	4	17	6	14	1	3	0	1	0	2	0	7	0	5	0	4	2	1	1	4	2	2	6	rs61747266	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:180634432G>A	uc002unn.4	-	2	655	c.51C>T	c.(49-51)aaC>aaT	p.N17N		NM_152520	NP_001106869	Q569K4	Z385B_HUMAN	Homo sapiens zinc finger protein 385B (ZNF385B), transcript variant 1, mRNA.	17						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			CAGGCCTGTCGTTCTTTATCC	0.463													A	180634432	G	A	180634432	2	1	109	1	0	0	0	0	0	0	0	1	17978	1136	40	1		1	ZNF385B	2	180634432	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	77567101	180634432	62564941	8	7303											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	109	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	28478680	209113112	34086261	9	7304											
IRS1	3667	broad.mit.edu	37	chr2	227661259	227661259	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccactggtgacatgttcatGtagtcacctgtgcaaggtaa	10	11	10	10	0	2	1	2	1	0	0	2	1	2	1	2	2	1	4	2	2	3	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr2:227661259G>C	uc021vxn.1	-	0	2196	c.2196C>G	c.(2194-2196)taC>taG	p.Y732*	IRS1_uc002voh.4_Nonsense_Mutation_p.Y732*	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	732					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	p.D731E(1)|p.D731G(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACATGTTCATGTAGTCACCTG	0.597											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	227661259	G	C	227661259	4	2	109	1	0	0	0	0	0	1	0	0	7898	1372	48	4	1536	4	IRS1	2	227661259	Nonsense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	18548147	227661259	15538114	10	7305											
RNF123	63891	broad.mit.edu	37	chr3	49735348	49735348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaactttggcaccatcCgctctaccacatgcgtgtac	10	9	7	15	2	1	0	0	0	1	0	2	0	2	0	3	1	5	4	3	1	3	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:49735348C>T	uc003cxh.3	+	5	459	c.373C>T	c.(373-375)Cgc>Tgc	p.R125C	RNF123_uc010hky.1_5'Flank|RNF123_uc003cxi.3_5'Flank	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	125	B30.2/SPRY.					cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TGGCACCATCCGCTCTACCAC	0.557													T	49735348	C	T	49735348	3	4	109	1	0	0	0	0	1	0	0	0	13524	652	23	1	391	1	RNF123	3	49735348	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		49735348	148287082	11	7306											
EPHA3	2042	broad.mit.edu	37	chr3	89462354	89462354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagaccctacccaagctgTtcatgagtttgccaaggaat	12	10	9	10	0	1	3	1	2	0	1	1	4	1	4	3	1	3	3	3	1	5	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr3:89462354T>C	uc003dqy.3	+	9	2051	c.1826T>C	c.(1825-1827)gTt>gCt	p.V609A	EPHA3_uc021xbf.1_Missense_Mutation_p.V609A	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	609						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACCCAAGCTGTTCATGAGTTT	0.423										TSP Lung(6;0.00050)			C	89462354	T	C	89462354	3	2	109	1	0	0	0	0	1	0	0	0	5209	1725	60	3	1890	3	EPHA3	3	89462354	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	39727006	89462354	108560076	12	7307											
FRAS1	80144	broad.mit.edu	37	chr4	79429983	79429983	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggtctgtgtcaccccCtgcgaccctcatttccccag	5	10	7	19	1	3	0	2	0	1	0	4	1	4	0	6	1	1	0	6	1	0	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:79429983C>A	uc003hlb.2	+	62	10043	c.9603C>A	c.(9601-9603)ccC>ccA	p.P3201P	FRAS1_uc003hlc.1_Silent_p.P203P	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3196					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGTCACCCCCTGCGACCCTC	0.567													A	79429983	C	A	79429983	2	1	109	1	0	0	0	0	0	0	0	1	6093	668	24	4		4	FRAS1	4	79429983	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		79429983	111724293	13	7308											
COPS4	51138	broad.mit.edu	37	chr4	83970319	83970319	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttttttaaacaagTggtaaatgagaatgtcagtc	12	19	7	3	0	1	1	1	1	0	1	2	2	1	1	0	1	1	1	0	1	6	8			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr4:83970319T>G	uc003hoa.3	+	3	294	c.155_splice	c.e3-1	p.M52_splice	COPS4_uc010ijx.3_Splice_Site_p.M52_splice	NM_016129	NP_057213	Q9BT78	CSN4_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 4 (Arabidopsis) (COPS4), mRNA.	52					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				TTTAAACAAGTGGTAAATGAG	0.318													G	83970319	T	G	83970319	3	3	109	1	0	0	0	0	1	0	0	0	3766	1710	59	5	165	5	COPS4	4	83970319	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	4540336	83970319	107183957	14	7309											
TAS2R1	50834	broad.mit.edu	37	chr5	9629276	9629276	+	Frame_Shift_Del	DEL	T	T	-																															acttactgtggaggaggaacTtttttgcattttgtttcaat																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:9629276delT	uc003jem.1	-	0	1188	c.869delA	c.(868-870)aagfs	p.K290fs		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	290					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGGAGGAACTTTTTTGCATT	0.393													-	9629276	T	-	9629276	7	5	109	1	0	1	0	1	0	0	0	0	15662	1609	56	0	34	0	TAS2R1	5	9629276	Frame_Shift_Del	DEL	T	TCGA-06-6701-01A-11D-1845-08		9629276	171285984	15	7310											
RGNEF	64283	broad.mit.edu	37	chr5	73128199	73128199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaaaaaaatccaagccgcCctcgacattgcttgctgcag	12	8	7	14	2	0	0	0	0	0	0	2	1	1	0	4	0	4	3	4	0	5	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73128199C>T	uc010izf.3	+	9	1237	c.1061C>T	c.(1060-1062)cCc>cTc	p.P354L	RGNEF_uc011csq.2_Missense_Mutation_p.P354L|RGNEF_uc003kcy.1_Missense_Mutation_p.P354L|RGNEF_uc021yam.1_Missense_Mutation_p.P354L|RGNEF_uc011csr.2_Missense_Mutation_p.P41L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	354					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCCAAGCCGCCCTCGACATTG	0.448													T	73128199	C	T	73128199	3	4	109	1	0	0	0	0	1	0	0	0	13371	623	22	2	1095	2	RGNEF	5	73128199	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	63498923	73128199	107787061	16	7311											
ENC1	8507	broad.mit.edu	37	chr5	73931841	73931841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtgcactggtgtgcaTcagacagcagcagcatgccc	8	8	13	12	0	1	1	1	0	0	1	1	1	1	1	1	2	6	6	1	2	0	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:73931841T>C	uc003kdc.4	-	1	1601	c.470A>G	c.(469-471)gAt>gGt	p.D157G	ENC1_uc011css.2_Missense_Mutation_p.D84G|ENC1_uc021yao.1_Missense_Mutation_p.D157G	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	157					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTGGTGTGCATCAGACAGCAG	0.517													C	73931841	T	C	73931841	3	2	109	1	0	0	0	0	1	0	0	0	5154	1435	50	3	1303	3	ENC1	5	73931841	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	803642	73931841	106983419	17	7312											
PCDHGC5	8641	broad.mit.edu	37	chr5	140769114	140769114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttagtggacgaccgcaacGacaatgcgccacgggtgctg	9	7	14	11	5	0	0	0	0	0	0	0	3	0	1	2	2	3	3	2	2	3	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr5:140769114G>A	uc003lkc.2	+	0	1663	c.1663G>A	c.(1663-1665)Gac>Aac	p.D555N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGACCGCAACGACAATGCGCC	0.672													A	140769114	G	A	140769114	3	1	109	1	0	0	0	0	1	0	0	0	11647	1058	37	1		1	PCDHGC5	5	140769114	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	66837273	140769114	40146146	18	7313											
ELOVL2	54898	broad.mit.edu	37	chr6	10995345	10995345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgtttttttccgcaaaaCgaagaaaattgtgtccagga	13	12	8	8	3	0	1	0	0	0	1	3	3	2	2	2	1	1	2	2	1	5	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:10995345C>T	uc003mzp.4	-	4	561	c.400G>A	c.(400-402)Gtt>Att	p.V134I		NM_017770	NP_060240	Q9NXB9	ELOV2_HUMAN	Homo sapiens ELOVL fatty acid elongase 2 (ELOVL2), mRNA.	134					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			TTCCGCAAAACGAAGAAAATT	0.393													T	10995345	C	T	10995345	3	4	109	1	0	0	0	0	1	0	0	0	5115	536	19	1	506	1	ELOVL2	6	10995345	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		10995345	160119722	19	7314											
ITPR3	3710	broad.mit.edu	37	chr6	33654271	33654271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccccctgtgcaagtaccGcatggatctggtgctgcagc	7	8	12	14	1	1	0	0	0	1	0	1	1	1	1	3	2	6	5	3	2	2	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr6:33654271G>A	uc021ywr.1	+	42	6178	c.5954G>A	c.(5953-5955)cGc>cAc	p.R1985H		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1985					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGCAAGTACCGCATGGATCTG	0.547													A	33654271	G	A	33654271	3	1	109	1	0	0	0	0	1	0	0	0	7980	1087	38	1	6124	1	ITPR3	6	33654271	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	22658926	33654271	137460796	20	7315											
SNAI2	6591	broad.mit.edu	37	chr8	49832679	49832679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaagttgaataggtcttaTtgcataaattgcactgaaac	17	12	7	5	0	1	2	0	2	1	0	1	2	1	2	0	1	3	3	0	1	8	6			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:49832679T>C	uc003xqp.3	-	1	576	c.401A>G	c.(400-402)aAt>aGt	p.N134S		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	134					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N134D(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				ATAGGTCTTATTGCATAAATT	0.438													C	49832679	T	C	49832679	3	2	109	1	0	0	0	0	1	0	0	0	14921	1493	52	3	413	3	SNAI2	8	49832679	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08		49832679	96531343	21	7316											
ZFHX4	79776	broad.mit.edu	37	chr8	77617855	77617855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagcatttctcctttatCatccagtgtgctaaaattta	12	15	4	10	0	2	0	1	0	1	0	4	0	3	0	3	0	2	2	3	0	5	6			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617855C>T	uc003yau.2	+	1	1919	c.1532C>T	c.(1531-1533)tCa>tTa	p.S511L	ZFHX4_uc003yat.1_Missense_Mutation_p.S511L|ZFHX4_uc003yaw.1_Missense_Mutation_p.S511L	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	511						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TCTCCTTTATCATCCAGTGTG	0.413										HNSCC(33;0.089)			T	77617855	C	T	77617855	3	4	109	1	0	0	0	0	1	0	0	0	17736	838	29	2	1534	2	ZFHX4	8	77617855	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	27785176	77617855	68746167	22	7317			1	23		2	2	43	C		6.376435e-05
ZFHX4	79776	broad.mit.edu	37	chr8	77617897	77617897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaaaagggtacctcgtcctCctcggcgactgtttctgatg	7	12	11	11	3	1	2	0	2	1	0	5	3	3	2	3	2	1	2	3	2	3	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr8:77617897C>T	uc003yau.2	+	1	1961	c.1574C>T	c.(1573-1575)tCc>tTc	p.S525F	ZFHX4_uc003yat.1_Missense_Mutation_p.S525F|ZFHX4_uc003yaw.1_Missense_Mutation_p.S525F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	525	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ACCTCGTCCTCCTCGGCGACT	0.433										HNSCC(33;0.089)			T	77617897	C	T	77617897	3	4	109	1	0	0	0	0	1	0	0	0	17736	855	30	2	1576	2	ZFHX4	8	77617897	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08	42	77617897	68746125	23	7318			1	23		2	2	43	C		6.376435e-05
NPDC1	56654	broad.mit.edu	37	chr9	139934426	139934426	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccctgaggcactcaccggGgccaggcccgggcactcgta	7	4	13	17	3	1	1	1	1	0	0	2	1	1	1	4	5	0	3	4	5	1	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr9:139934426G>C	uc004cks.2	-	6	1789	c.1116C>G	c.(1114-1116)gcC>gcG	p.A372A	NPDC1_uc004ckt.2_Silent_p.A294A	NM_015392	NP_056207	Q9NQX5	NPDC1_HUMAN	Homo sapiens neural proliferation, differentiation and control, 1 (NPDC1), mRNA.	294						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		CACTCACCGGGGCCAGGCCCG	0.657													C	139934426	G	C	139934426	2	2	109	1	0	0	0	0	0	0	0	1	10649	1219	43	4		4	NPDC1	9	139934426	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08		139934426	1279005	24	7319											
OGDHL	55753	broad.mit.edu	37	chr10	50955213	50955213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtgacgcggttgatcctCtcatggtacatgcccaggtg	6	12	13	10	2	1	2	1	2	1	0	3	2	2	2	2	4	2	2	2	4	1	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:50955213C>G	uc009xog.3	-	7	1144	c.1110G>C	c.(1108-1110)gaG>gaC	p.E370D	OGDHL_uc001jie.3_Missense_Mutation_p.E343D|OGDHL_uc010qgt.2_Missense_Mutation_p.E286D|OGDHL_uc010qgu.2_Missense_Mutation_p.E134D|OGDHL_uc009xoh.2_Missense_Mutation_p.E134D	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	343					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding	p.E343E(1)		central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GGTTGATCCTCTCATGGTACA	0.587													G	50955213	C	G	50955213	3	3	109	1	0	0	0	0	1	0	0	0	10916	912	32	4	2063	4	OGDHL	10	50955213	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		50955213	84579534	25	7320											
ENTPD1	953	broad.mit.edu	37	chr10	97607463	97607463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccactccagggggattttggGgtaagtttgtgaaatgatga	10	12	14	5	0	0	3	0	3	0	0	1	4	1	4	2	4	0	2	2	4	2	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:97607463G>A	uc010qoj.2	+	7	1173	c.1110_splice	c.e7+1	p.G370_splice	ENTPD1_uc001kli.4_Splice_Site_p.G365_splice|LOC728558_uc001klg.2_Intron|ENTPD1_uc010qok.2_Splice_Site_p.G250_splice|ENTPD1_uc010qol.2_Splice_Site_p.G250_splice|ENTPD1_uc001klh.4_Splice_Site_p.G358_splice|ENTPD1_uc010qom.2_Splice_Site_p.G317_splice|ENTPD1_uc010qon.2_Splice_Site_p.G220_splice|ENTPD1_uc009xva.3_Splice_Site_p.G220_splice	NM_001164178	NP_001157655	P49961	ENTP1_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 1 (ENTPD1), transcript variant 3, mRNA.	358					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGGATTTTGGGGTAAGTTTGT	0.408													A	97607463	G	A	97607463	2	1	109	1	0	0	0	0	0	0	0	1	5179	1246	43	2		2	ENTPD1	10	97607463	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	46652250	97607463	37927284	26	7321											
ACADSB	36	broad.mit.edu	37	chr10	124813243	124813243	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggagcttccaacatccagTtgaacaccattgcaaagcat	15	8	7	11	0	0	1	0	1	0	0	2	2	2	2	3	1	5	4	3	1	4	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr10:124813243T>C	uc001lhb.3	+	10	1378	c.1261T>C	c.(1261-1263)Ttg>Ctg	p.L421L	ACADSB_uc010qub.2_Silent_p.L319L	NM_001609	NP_001600	P45954	ACDSB_HUMAN	Homo sapiens acyl-CoA dehydrogenase, short/branched chain (ACADSB), nuclear gene encoding mitochondrial protein, mRNA.	421					branched chain family amino acid catabolic process|fatty acid metabolic process	mitochondrial matrix	flavin adenine dinucleotide binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.0811)|COAD - Colon adenocarcinoma(40;0.0835)	L-Isoleucine(DB00167)	CAACATCCAGTTGAACACCAT	0.433													C	124813243	T	C	124813243	2	2	109	1	0	0	0	0	0	0	0	1	115	1722	60	3		3	ACADSB	10	124813243	Silent	SNP	T	TCGA-06-6701-01A-11D-1845-08	27205780	124813243	10721504	27	7322											
MMP26	56547	broad.mit.edu	37	chr11	5012728	5012728	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcagcttcagacactggTaaatgccttgtttggtggga	8	13	13	7	0	2	1	2	0	0	1	2	2	2	2	1	4	2	3	1	4	2	4			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:5012728T>C	uc001lzv.3	+	4	613	c.595_splice	c.e4+2	p.G199_splice		NM_021801	NP_068573	Q9NRE1	MMP26_HUMAN	Homo sapiens matrix metallopeptidase 26 (MMP26), mRNA.	199					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		CAGACACTGGTAAATGCCTTG	0.483													C	5012728	T	C	5012728	5	2	109	1	0	0	0	0	0	0	1	0	9739	1652	57	3	611	3	MMP26	11	5012728	Splice_Site	SNP	T	TCGA-06-6701-01A-11D-1845-08		5012728	129993788	28	7323											
GTF2H1	2965	broad.mit.edu	37	chr11	18369162	18369162	+	Frame_Shift_Del	DEL	G	G	-																															gcatttcctctgtgccatctGcttccaattctaaatccata																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr11:18369162delG	uc001moi.2	+	8	1559	c.865delG	c.(865-867)gctfs	p.A289fs	GTF2H1_uc001moh.2_Frame_Shift_Del_p.A289fs|GTF2H1_uc009yhm.2_Frame_Shift_Del_p.A173fs	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	289					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						TGTGCCATCTGCTTCCAATTC	0.373								Nucleotide excision repair (NER)					-	18369162	G	-	18369162	7	5	109	1	0	1	0	1	0	0	0	0	6915	1319	46	0	891	0	GTF2H1	11	18369162	Frame_Shift_Del	DEL	G	TCGA-06-6701-01A-11D-1845-08	13356434	18369162	116637354	29	7324											
DDN	23109	broad.mit.edu	37	chr12	49391285	49391285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcgtatcactacgcaCgtggcgtcaatgacaaagac	12	8	11	10	4	2	2	2	1	0	1	3	3	2	3	0	2	1	2	0	2	4	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:49391285C>T	uc001rsv.1	-	1	1392	c.1374G>A	c.(1372-1374)acG>acA	p.T458T		NM_015086	NP_055901	O94850	DEND_HUMAN	Homo sapiens dendrin (DDN), mRNA.	458	Interaction with CD2AP and NPHS1 (By similarity).					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TCACTACGCACGTGGCGTCAA	0.642													T	49391285	C	T	49391285	2	4	109	1	0	0	0	0	0	0	0	1	4367	523	19	1		1	DDN	12	49391285	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		49391285	84460610	30	7325											
TSPAN19	144448	broad.mit.edu	37	chr12	85411285	85411285	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaaaccattttcttaaagTtgactttgtgcaagaacatg	15	13	6	7	0	1	2	0	1	1	1	1	2	1	2	1	0	3	2	1	0	6	5			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr12:85411285T>A	uc009zsj.3	-	6	645	c.544A>T	c.(544-546)Act>Tct	p.T182S		NM_001100917	NP_001094387	P0C672	TSN19_HUMAN	Homo sapiens tetraspanin 19 (TSPAN19), mRNA.	182						integral to membrane				ovary(1)	1						TTTCTTAAAGTTGACTTTGTG	0.343													A	85411285	T	A	85411285	3	1	109	1	0	0	0	0	1	0	0	0	16744	1725	60	5	214	5	TSPAN19	12	85411285	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08	36020000	85411285	48440610	31	7326											
TRPC4	7223	broad.mit.edu	37	chr13	38320377	38320377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccaaggccttgtagatGttgagtctggagcgtgagtg	7	11	16	7	1	1	3	0	2	1	1	1	4	1	4	2	3	1	2	2	3	2	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr13:38320377G>A	uc010abx.3	-	2	829	c.594C>T	c.(592-594)aaC>aaT	p.N198N	TRPC4_uc010abv.3_5'UTR|TRPC4_uc001uwt.3_Silent_p.N198N|TRPC4_uc001uws.3_Silent_p.N198N|TRPC4_uc010tey.2_Silent_p.N198N|TRPC4_uc010abw.3_Intron|TRPC4_uc010aby.3_Silent_p.N198N	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	198					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CCTTGTAGATGTTGAGTCTGG	0.532													A	38320377	G	A	38320377	2	1	109	1	0	0	0	0	0	0	0	1	16681	1368	48	2		2	TRPC4	13	38320377	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08		38320377	76849501	32	7327											
CDH24	64403	broad.mit.edu	37	chr14	23524268	23524268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagctggggtgctcacCgacattggacatctcgggca	8	9	13	11	2	3	1	2	0	1	1	4	3	3	2	1	4	2	3	1	4	0	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr14:23524268C>T	uc001wil.3	-	3	756	c.496_splice	c.e3+1	p.G166_splice	CDH24_uc010akf.3_Splice_Site_p.G166_splice|CDH24_uc001win.3_Splice_Site_p.G166_splice	NM_022478	NP_071923	Q86UP0	CAD24_HUMAN	Homo sapiens cadherin 24, type 2 (CDH24), transcript variant 1, mRNA.	166	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GGGTGCTCACCGACATTGGAC	0.552											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	23524268	C	T	23524268	3	4	109	1	0	0	0	0	1	0	0	0	3139	666	23	1	2007	1	CDH24	14	23524268	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		23524268	83825272	33	7328											
ZNF710	374655	broad.mit.edu	37	chr15	90610834	90610834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggtgcagagcagcgcCgtcaagatgatcgacctcag	9	6	13	13	3	2	3	2	1	0	2	3	4	2	3	3	1	3	2	3	1	1	0			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr15:90610834C>T	uc002bov.2	+	1	588	c.465C>T	c.(463-465)gcC>gcT	p.A155A		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			AGAGCAGCGCCGTCAAGATGA	0.687													T	90610834	C	T	90610834	2	4	109	1	0	0	0	0	0	0	0	1	18216	639	23	1		1	ZNF710	15	90610834	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08		90610834	11920558	34	7329											
WDR90	197335	broad.mit.edu	37	chr16	703624	703624	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacttccagaccgggcggTgcttgtgcctgttccggagc	4	9	16	12	3	0	1	0	0	0	1	2	3	2	3	4	4	3	2	4	4	0	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:703624T>G	uc002cii.1	+	11	1387	c.1333T>G	c.(1333-1335)Tgc>Ggc	p.C445G	WDR90_uc002cig.1_Missense_Mutation_p.C445G|WDR90_uc002cih.1_Missense_Mutation_p.C446G|WDR90_uc002cij.1_Non-coding_Transcript|WDR90_uc002cik.1_5'Flank	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	445										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GACCGGGCGGTGCTTGTGCCT	0.657													G	703624	T	G	703624	3	3	109	1	0	0	0	0	1	0	0	0	17439	1696	59	5	1379	5	WDR90	16	703624	Missense_Mutation	SNP	T	TCGA-06-6701-01A-11D-1845-08		703624	89651129	35	7330											
IGFALS	3483	broad.mit.edu	37	chr16	1842222	1842222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactccatcaggcaggcgcGtgaggttcctggagctgcag	7	7	16	11	2	1	1	1	1	0	0	3	3	3	3	2	5	2	4	2	5	0	1	rs145465654		TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr16:1842222G>A	uc010uvn.2	-	1	392	c.311C>T	c.(310-312)aCg>aTg	p.T104M	IGFALS_uc002cmy.3_Missense_Mutation_p.T66M|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	66					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						AGGCAGGCGCGTGAGGTTCCT	0.692													A	1842222	G	A	1842222	3	1	109	1	0	0	0	0	1	0	0	0	7635	1145	40	1	1624	1	IGFALS	16	1842222	Missense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	1138598	1842222	88512531	36	7331											
TP53	7157	broad.mit.edu	37	chr17	7577096	7577097	+	Missense_Mutation	DNP	TC	TC	GG																															tctcttcctctgtgcgccggTctctcccaggacaggcacaa																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:7577096_7577097TC>GG	uc002gim.2	-	7	1035_1036	c.841_842GA>CC	c.(841-843)gac>CCc	p.D281P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.D281P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.D149P|TP53_uc010cnf.1_Missense_Mutation_p.D149P|TP53_uc002gii.1_Missense_Mutation_p.D149P|TP53_uc010cni.1_Missense_Mutation_p.D281P|TP53_uc010cnh.1_Missense_Mutation_p.D281P|TP53_uc002gij.2_Missense_Mutation_p.D281P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.R280T(61)|p.D281N(51)|p.R280K(47)|p.D281H(38)|p.D281E(28)|p.D281Y(27)|p.D281G(20)|p.R280G(19)|p.R280S(15)|p.R280I(14)|p.D281V(9)|p.R280fs*65(8)|p.R280*(8)|p.0?(8)|p.D281D(5)|p.D281fs*63(4)|p.R280_D281delRD(4)|p.D281A(4)|p.D281>AGPY(3)|p.R280R(3)|p.A276_R283delACPGRDRR(2)|p.R280fs*62(2)|p.F270_D281del12(2)|p.?(2)|p.L265_K305del41(2)|p.V272_K292del21(2)|p.D281R(2)|p.D281_R282delDR(2)|p.D281_R282>EW(2)|p.C275_R283delCACPGRDRR(2)|p.A276fs*64(1)|p.D281fs*24(1)|p.G279_R280delGR(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.S269fs*21(1)|p.C275fs*20(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)		TGTGCGCCGGTCTCTCCCAGGA	0.55		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)			GG	7577097	TC	GG	7577096	3	3	109	1	0	0	0	0	1	0	0	0	16482	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	DNP	TC	TCGA-06-6701-01A-11D-1845-08		7577096	73618114	37	7332											
DHRS7B	25979	broad.mit.edu	37	chr17	21094331	21094333	+	In_Frame_Del	DEL	GAA	GAA	-																															gatgttcttgctgctgtgggGaagaagaagaaagatgtgat																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:21094331_21094333delGAA	uc002gyo.3	+	6	887_889	c.843_845delGAA	c.(841-846)gggaag>ggg	p.K285del		NM_015510	NP_056325	Q6IAN0	DRS7B_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7B (DHRS7B), mRNA.	285						integral to membrane|peroxisomal membrane	binding|oxidoreductase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|pancreas(2)	7						CTGCTGTGGGGAAGAAGAAGAAA	0.507													-	21094333	GAA	-	21094331	7	5	109	1	0	1	0	1	0	0	0	0	4535	1161	41	0	869	0	DHRS7B	17	21094331	In_Frame_Del	DEL	GAA	TCGA-06-6701-01A-11D-1845-08	13517235	21094331	60100879	38	7333											
FOXN1	8456	broad.mit.edu	37	chr17	26851529	26851529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctacccagaagcatgcCggcttcagctgctcgtcatt	7	11	9	14	2	3	1	2	0	1	1	4	1	3	1	2	1	5	4	2	1	2	3			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:26851529C>T	uc010crm.3	+	2	330	c.132C>T	c.(130-132)gcC>gcT	p.A44A	FOXN1_uc002hbj.3_Silent_p.A44A	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	44					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					AGAAGCATGCCGGCTTCAGCT	0.637													T	26851529	C	T	26851529	2	4	109	1	0	0	0	0	0	0	0	1	6070	639	23	1		1	FOXN1	17	26851529	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08	5757198	26851529	54343681	39	7334											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939701	27939701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgagatctccccagcGttgttcgaggccccgcgcgg	4	7	15	15	6	1	1	0	0	1	1	3	3	1	1	4	3	2	3	4	3	0	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr17:27939701G>A	uc002hei.3	+	12	1556	c.1443G>A	c.(1441-1443)gcG>gcA	p.A481A	ANKRD13B_uc002heh.3_Silent_p.A349A|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	481										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						TCTCCCCAGCGTTGTTCGAGG	0.751													A	27939701	G	A	27939701	2	1	109	1	0	0	0	0	0	0	0	1	642	1132	40	1		1	ANKRD13B	17	27939701	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	1088172	27939701	53255509	40	7335											
MAST1	22983	broad.mit.edu	37	chr19	12977473	12977473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacccgctccccagcccgctCagacaggtatcaccacgtga	9	6	8	18	3	2	2	2	1	0	1	3	2	3	2	5	1	2	3	5	1	2	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:12977473C>T	uc002mvm.3	+	17	2164	c.2036C>T	c.(2035-2037)tCa>tTa	p.S679L		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	679	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CCAGCCCGCTCAGACAGGTAT	0.597													T	12977473	C	T	12977473	3	4	109	1	0	0	0	0	1	0	0	0	9399	838	29	2	2106	2	MAST1	19	12977473	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		12977473	46151510	41	7336											
CYP4F8	11283	broad.mit.edu	37	chr19	15734860	15734860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaacgctgccggcaggaGgtgcaagagcttctgaagga	12	5	15	9	2	1	3	0	1	1	2	1	5	1	5	1	4	4	4	1	4	4	1			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:15734860G>A	uc002nbi.3	+	9	1132	c.1068G>A	c.(1066-1068)gaG>gaA	p.E356E	CYP4F8_uc010xoj.2_Silent_p.E169E	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	357					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GCCGGCAGGAGGTGCAAGAGC	0.582													A	15734860	G	A	15734860	2	1	109	1	0	0	0	0	0	0	0	1	4224	991	35	2		2	CYP4F8	19	15734860	Silent	SNP	G	TCGA-06-6701-01A-11D-1845-08	2757387	15734860	43394123	42	7337											
PSG4	5675	broad.mit.edu	37	chr19	43420415	43420415	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggaatatactgtttctcGtccactgtaggcaggcccat	9	13	9	10	1	1	0	0	0	1	0	3	1	2	1	2	3	1	3	2	3	4	5	rs112289603	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:43420415G>A	uc002ovj.1	-	1	388	c.289C>T	c.(289-291)Cga>Tga	p.R97*	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Nonsense_Mutation_p.R97*	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	98	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				ACTGTTTCTCGTCCACTGTAG	0.458													A	43420415	G	A	43420415	4	1	109	1	0	0	0	0	0	1	0	0	12742	1153	40	1		1	PSG4	19	43420415	Nonsense_Mutation	SNP	G	TCGA-06-6701-01A-11D-1845-08	27685555	43420415	15708568	43	7338											
DKKL1	27120	broad.mit.edu	37	chr19	49867855	49867855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctccccacctgccccCgcaaggcggcatctgctggt	6	6	10	19	2	1	0	0	0	1	0	2	0	2	0	6	3	3	3	6	3	1	0			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr19:49867855C>T	uc002pnk.3	+	1	241	c.27C>T	c.(25-27)ccC>ccT	p.P9P	TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Silent_p.P9P	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	9					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CACCTGCCCCCGCAAGGCGGC	0.677													T	49867855	C	T	49867855	2	4	109	1	0	0	0	0	0	0	0	1	4587	639	23	1		1	DKKL1	19	49867855	Silent	SNP	C	TCGA-06-6701-01A-11D-1845-08	6447440	49867855	9261128	44	7339											
APOBEC3F	60489	broad.mit.edu	37	chr22	39479797	39479797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaccttgggtcagaggaCggcatgagacttacctgtgt	10	10	13	8	1	1	3	1	2	0	2	1	5	1	4	2	3	2	1	2	3	2	2			TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chr22:39479797C>T	uc021wpr.1	+	4	936	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	APOBEC3F_uc003awx.3_Missense_Mutation_p.R215W|APOBEC3F_uc003awy.3_Missense_Mutation_p.R148W	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	215					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGTCAGAGGACGGCATGAGAC	0.522													T	39479797	C	T	39479797	3	4	109	1	0	0	0	0	1	0	0	0	796	527	19	1		1	APOBEC3F	22	39479797	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		39479797	11824769	45	7340											
CSF2RA	1438	broad.mit.edu	37	chrX	1413266	1413266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtacgttgcaacacgaCgcactgcctcgtacggtgga	9	7	11	14	6	0	0	0	0	0	0	1	2	0	1	2	2	5	5	2	2	3	3	rs149974131	byFrequency	TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:1413266C>T	uc010nct.2	+	8	1014	c.692C>T	c.(691-693)aCg>aTg	p.T231M	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Missense_Mutation_p.T231M|CSF2RA_uc004cpq.2_Intron|CSF2RA_uc004cpn.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpo.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_Missense_Mutation_p.T98M|CSF2RA_uc004cpp.2_Missense_Mutation_p.T231M|CSF2RA_uc010ncv.2_Missense_Mutation_p.T231M|CSF2RA_uc004cpr.2_Missense_Mutation_p.T231M	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	231						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGCAACACGACGCACTGCCTC	0.572													T	1413266	C	T	1413266	3	4	109	1	0	0	0	0	1	0	0	0	3967	536	19	1	714	1	CSF2RA	23	1413266	Missense_Mutation	SNP	C	TCGA-06-6701-01A-11D-1845-08		1413266	153857294	46	7341											
ATRX	546	broad.mit.edu	37	chrX	76888787	76888792	+	In_Frame_Del	DEL	ATGATC	ATGATC	-																															ttctatacatctcatagcctAtgatcataacaccaccatct																										TCGA-06-6701-01A-11D-1845-08	TCGA-06-6701-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fad178f1-385b-4f94-bd29-567c1aa0a8fc	a0818f1a-6f38-46bb-8d45-5b236a4d25ed	g.chrX:76888787_76888792delATGATC	uc004ecp.4	-	18	5269_5274	c.5037_5042delGATCAT	c.(5035-5043)atgatcata>ata	p.MI1679del	ATRX_uc004ecq.4_In_Frame_Del_p.MI1641del|ATRX_uc004eco.4_In_Frame_Del_p.MI1464del	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1679	Helicase ATP-binding.				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)	CTCATAGCCTATGATCATAACACCAC	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76888792	ATGATC	-	76888787	7	5	109	1	0	1	0	1	0	0	0	0	1213	449	16	0	2504	0	ATRX	23	76888787	In_Frame_Del	DEL	ATGATC	TCGA-06-6701-01A-11D-1845-08	75475521	76888787	78381773	47	7342											
CMPK1	51727	broad.mit.edu	37	chr1	47838725	47838725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggatggaacaagacCatggatgggaaggcagatgt	14	7	14	6	0	1	2	1	0	0	2	1	6	1	6	1	5	1	1	1	5	4	1			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:47838725C>T	uc001cri.3	+	2	566	c.417C>T	c.(415-417)acC>acT	p.T139T	CMPK1_uc010omp.2_Silent_p.T90T|CMPK1_uc010omq.2_Non-coding_Transcript	NM_016308	NP_057392	P30085	KCY_HUMAN	Homo sapiens cytidine monophosphate (UMP-CMP) kinase 1, cytosolic (CMPK1), transcript variant 1, mRNA.	107					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	GGAACAAGACCATGGATGGGA	0.388													T	47838725	C	T	47838725	2	4	110	1	0	0	0	0	0	0	0	1	3611	581	21	2		2	CMPK1	1	47838725	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		47838725	201411896	1	7343											
DDAH1	23576	broad.mit.edu	37	chr1	85790448	85790448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactttctggatactcttccGgggttcggtgcagcaagacg	7	11	12	11	3	2	1	0	0	2	1	4	2	3	2	1	4	3	3	1	4	2	4			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:85790448G>A	uc001dlb.3	-	4	877	c.716C>T	c.(715-717)cCg>cTg	p.P239L	DDAH1_uc001dlc.3_Missense_Mutation_p.P136L|LOC646626_uc001dla.2_Intron|DDAH1_uc010osb.2_Missense_Mutation_p.P139L|DDAH1_uc009wco.3_Missense_Mutation_p.P136L	NM_012137	NP_001127917	O94760	DDAH1_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 1 (DDAH1), transcript variant 1, mRNA.	239					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	ATACTCTTCCGGGGTTCGGTG	0.473													A	85790448	G	A	85790448	3	1	110	1	0	0	0	0	1	0	0	0	4355	1116	39	1	149	1	DDAH1	1	85790448	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08	37951723	85790448	163460173	2	7344											
PKN2	5586	broad.mit.edu	37	chr1	89294277	89294277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagattggtggggccttggcGtgcttatatatgaaatgctt	8	15	13	5	1	0	2	0	1	0	1	0	2	0	2	1	4	2	2	1	4	5	7			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:89294277G>A	uc001dmn.3	+	18	2875	c.2533G>A	c.(2533-2535)Gtg>Atg	p.V845M	PKN2_uc010osp.2_Missense_Mutation_p.V829M|PKN2_uc010osq.2_Missense_Mutation_p.V688M|PKN2_uc009wcv.3_Missense_Mutation_p.V797M|PKN2_uc010osr.2_Missense_Mutation_p.V510M	NM_006256	NP_006247	Q16513	PKN2_HUMAN	Homo sapiens protein kinase N2 (PKN2), mRNA.	845	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGGCCTTGGCGTGCTTATATA	0.383													A	89294277	G	A	89294277	3	1	110	1	0	0	0	0	1	0	0	0	12057	1145	40	1	2607	1	PKN2	1	89294277	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08	3503829	89294277	159956344	3	7345											
OR14C36	127066	broad.mit.edu	37	chr1	248512862	248512862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtacctcaggccacctgcGatacctgcagccacccagga	9	6	10	16	1	1	0	1	0	0	0	1	2	1	1	6	2	5	2	6	2	2	2	rs143199703		TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr1:248512862G>A	uc010pzl.2	+	0	786	c.786G>A	c.(784-786)gcG>gcA	p.A262A		NM_001001918	NP_001001918	Q8NHC7	O14CZ_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily C, member 36 (OR14C36), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A262A(2)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						GGCCACCTGCGATACCTGCAG	0.463													A	248512862	G	A	248512862	2	1	110	1	0	0	0	0	0	0	0	1	11022	1045	37	1		1	OR14C36	1	248512862	Silent	SNP	G	TCGA-08-0386-01A-01D-1492-08	159218585	248512862	737759	4	7346											
PLCD1	5333	broad.mit.edu	37	chr3	38051499	38051499	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacgcgctgctgctccaGtgtgcagtggttctccaggg	5	10	13	13	2	2	0	1	0	1	0	4	0	3	0	2	2	3	5	2	2	0	1			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr3:38051499G>C	uc003chm.3	-	7	1600	c.1246C>G	c.(1246-1248)Ctg>Gtg	p.L416V	PLCD1_uc003chn.3_Missense_Mutation_p.L395V	NM_001130964	NP_001124436	P51178	PLCD1_HUMAN	Homo sapiens phospholipase C, delta 1 (PLCD1), transcript variant 1, mRNA.	395	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGCTGCTCCAGTGTGCAGTGG	0.647													C	38051499	G	C	38051499	3	2	110	1	0	0	0	0	1	0	0	0	12108	1020	36	4	1119	4	PLCD1	3	38051499	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		38051499	159970931	5	7347											
MTMR12	54545	broad.mit.edu	37	chr5	32230234	32230234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactttgatttcgggcccctCgatatgcggtaacaacaaac	11	10	9	11	3	0	1	0	1	0	0	2	3	0	1	2	2	4	1	2	2	4	4			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr5:32230234C>T	uc003jhq.3	-	15	2064	c.1894G>A	c.(1894-1896)Gag>Aag	p.E632K	MTMR12_uc010iuk.3_Missense_Mutation_p.E578K|MTMR12_uc010iul.3_Missense_Mutation_p.E522K	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	632	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TCGGGCCCCTCGATATGCGGT	0.493													T	32230234	C	T	32230234	3	4	110	1	0	0	0	0	1	0	0	0	10017	893	31	1	353	1	MTMR12	5	32230234	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08		32230234	148685026	6	7348											
PHF1	5252	broad.mit.edu	37	chr6	33380059	33380059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggcgcagcccccccggCtgagccgctctggtgcctcc	4	6	12	19	3	1	1	0	1	1	0	2	1	2	1	6	3	3	3	6	3	1	0			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:33380059C>T	uc003oeh.3	+	1	255	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Silent_p.L7L|PHF1_uc010jux.3_5'UTR	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	7					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCCCCCCCGGCTGAGCCGCTC	0.597													T	33380059	C	T	33380059	2	4	110	1	0	0	0	0	0	0	0	1	11897	796	28	2		2	PHF1	6	33380059	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		33380059	137735008	7	7349											
COL21A1	81578	broad.mit.edu	37	chr6	56044496	56044496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaagttcggcatcttctgTttctgaaccaacaccaatag	11	13	6	11	1	4	1	0	1	4	0	5	1	4	1	2	1	2	3	2	1	5	5			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr6:56044496T>C	uc003pcs.3	-	2	752	c.520A>G	c.(520-522)Aca>Gca	p.T174A	COL21A1_uc003pct.1_Non-coding_Transcript|COL21A1_uc011dxi.1_Missense_Mutation_p.T174A|COL21A1_uc003pcu.1_Missense_Mutation_p.T174A	NM_030820	NP_110447	Q96P44	COLA1_HUMAN	Homo sapiens collagen, type XXI, alpha 1 (COL21A1), mRNA.	174	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GCATCTTCTGTTTCTGAACCA	0.398													C	56044496	T	C	56044496	3	2	110	1	0	0	0	0	1	0	0	0	3711	1725	60	3	2465	3	COL21A1	6	56044496	Missense_Mutation	SNP	T	TCGA-08-0386-01A-01D-1492-08	22664437	56044496	115070571	8	7350											
CRY2	1408	broad.mit.edu	37	chr11	45891983	45891983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagtgcatcattggtgtGgactacccacggcccatcgt	8	9	11	13	2	1	0	1	0	0	0	2	1	1	1	3	3	2	1	3	3	2	2			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr11:45891983G>A	uc010rgn.2	+	8	1534	c.1512G>A	c.(1510-1512)gtG>gtA	p.V504V	CRY2_uc009ykw.3_Silent_p.V422V|CRY2_uc010rgo.2_Silent_p.V226V	NM_021117	NP_066940	Q49AN0	CRY2_HUMAN	Homo sapiens cryptochrome 2 (photolyase-like) (CRY2), transcript variant 1, mRNA.	483	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	p.M503I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TCATTGGTGTGGACTACCCAC	0.532													A	45891983	G	A	45891983	2	1	110	1	0	0	0	0	0	0	0	1	3935	1335	47	2		2	CRY2	11	45891983	Silent	SNP	G	TCGA-08-0386-01A-01D-1492-08		45891983	89114533	9	7351											
P2RX2	22953	broad.mit.edu	37	chr12	133197851	133197853	+	In_Frame_Del	DEL	TAC	TAC	-																															cccattgcaggtttgccaaaTactacaagatcaatggcacc																										TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr12:133197851_133197853delTAC	uc001ukk.1	+	8	916_918	c.916_918delTAC	c.(916-918)tacdel	p.Y307del	P2RX2_uc001uki.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukj.1_In_Frame_Del_p.Y307del|P2RX2_uc001ukl.1_In_Frame_Del_p.Y283del|P2RX2_uc001ukm.1_In_Frame_Del_p.Y235del|P2RX2_uc001ukn.1_In_Frame_Del_p.Y215del|P2RX2_uc009zyt.1_In_Frame_Del_p.Y307del|P2RX2_uc001uko.1_In_Frame_Del_p.Y273del	NM_170683	NP_733783	Q9UBL9	P2RX2_HUMAN	Homo sapiens purinergic receptor P2X, ligand-gated ion channel, 2 (P2RX2), transcript variant 4, mRNA.	307					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		GTTTGCCAAATACTACAAGATCA	0.606													-	133197853	TAC	-	133197851	7	5	110	1	0	1	0	1	0	0	0	0	11416	1406	49	0	950	0	P2RX2	12	133197851	In_Frame_Del	DEL	TAC	TCGA-08-0386-01A-01D-1492-08		133197851	654044	10	7352											
RIPK3	11035	broad.mit.edu	37	chr14	24808471	24808471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgataaccccttctaggCgcagcacgaattcgttatcc	9	11	7	14	4	2	0	0	0	2	0	5	2	3	0	3	1	2	3	3	1	4	5			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr14:24808471C>T	uc001wpb.3	-	2	431	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RIPK3_uc001wpa.3_5'Flank|RIPK3_uc010alq.3_Non-coding_Transcript|RIPK3_uc010toi.2_5'UTR|RIPK3_uc010toj.1_Missense_Mutation_p.R74H	NM_006871	NP_006862	Q9Y572	RIPK3_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 3 (RIPK3), mRNA.	74	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals	cytoplasm	ATP binding|protein binding|transcription coactivator activity			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				GBM - Glioblastoma multiforme(265;0.0181)		CCCTTCTAGGCGCAGCACGAA	0.577													T	24808471	C	T	24808471	3	4	110	1	0	0	0	0	1	0	0	0	13473	768	27	1	1367	1	RIPK3	14	24808471	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08		24808471	82541069	11	7353											
MYH1	4619	broad.mit.edu	37	chr17	10404048	10404048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttgatcttctagagcgcGgcacatcttttcaaggtttc	8	14	9	10	2	4	2	1	1	3	1	5	2	4	2	0	2	1	3	0	2	2	6			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr17:10404048G>A	uc002gmo.3	-	27	3854	c.3760C>T	c.(3760-3762)Cgc>Tgc	p.R1254C	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1254						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTAGAGCGCGGCACATCTTT	0.448													A	10404048	G	A	10404048	3	1	110	1	0	0	0	0	1	0	0	0	10105	1116	39	1	2111	1	MYH1	17	10404048	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		10404048	70791162	12	7354											
ACTN4	81	broad.mit.edu	37	chr19	39205183	39205183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacctgatggaggactaCgagaagctggccagcgacgt	11	5	15	10	3	0	2	0	1	0	1	0	7	0	4	2	3	4	2	2	3	2	1			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:39205183C>T	uc002oja.2	+	8	1013	c.894C>T	c.(892-894)taC>taT	p.Y298Y	ACTN4_uc010egc.2_Silent_p.Y298Y|ACTN4_uc021uug.1_Silent_p.Y79Y	NM_004924	NP_004915	O43707	ACTN4_HUMAN	Homo sapiens actinin, alpha 4 (ACTN4), mRNA.	298					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	p.D297N(1)		NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGGAGGACTACGAGAAGCTGG	0.582													T	39205183	C	T	39205183	2	4	110	1	0	0	0	0	0	0	0	1	207	547	19	1		1	ACTN4	19	39205183	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08		39205183	19923800	13	7355											
SPHK2	56848	broad.mit.edu	37	chr19	49132916	49132916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgctcacaccacgcggCgtgctcacagtggacgggga	8	4	15	14	5	2	0	2	0	0	0	2	3	2	2	2	4	2	2	2	4	0	0			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:49132916C>T	uc002pjw.3	+	4	2734	c.2037C>T	c.(2035-2037)ggC>ggT	p.G679G	SPHK2_uc010xzt.2_Silent_p.G558G|SPHK2_uc002pjt.3_Silent_p.G411G|SPHK2_uc002pjr.3_Silent_p.G617G|SPHK2_uc002pjs.3_Silent_p.G617G|SPHK2_uc002pju.3_Intron|SPHK2_uc002pjv.3_Silent_p.G581G	NM_001204160	NP_001191089	Q9NRA0	SPHK2_HUMAN	Homo sapiens sphingosine kinase 2 (SPHK2), transcript variant 4, mRNA.	617					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cell proliferation|sphinganine-1-phosphate biosynthetic process	cytosol|lysosomal membrane|membrane fraction	ATP binding|D-erythro-sphingosine kinase activity|diacylglycerol kinase activity|Ras GTPase binding|sphinganine kinase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(116;0.000125)|Lung NSC(112;0.000202)|all_epithelial(76;0.000283)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACCACGCGGCGTGCTCACAG	0.682													T	49132916	C	T	49132916	2	4	110	1	0	0	0	0	0	0	0	1	15143	755	27	1		1	SPHK2	19	49132916	Silent	SNP	C	TCGA-08-0386-01A-01D-1492-08	9927733	49132916	9996067	14	7356											
NLRP5	126206	broad.mit.edu	37	chr19	56539737	56539737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaagaagtgtggcttcCgattaaccagaacctggact	11	10	9	11	1	0	2	0	0	0	2	2	4	2	3	4	2	2	1	4	2	4	3			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:56539737C>T	uc002qmj.3	+	6	2138	c.2138C>T	c.(2137-2139)cCg>cTg	p.P713L	NLRP5_uc002qmi.3_Missense_Mutation_p.P694L	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	713						mitochondrion|nucleolus	ATP binding	p.L712V(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTGTGGCTTCCGATTAACCAG	0.493													T	56539737	C	T	56539737	3	4	110	1	0	0	0	0	1	0	0	0	10556	652	23	1	2164	1	NLRP5	19	56539737	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08	7406821	56539737	2589246	15	7357											
MZF1	7593	broad.mit.edu	37	chr19	59081801	59081801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgtcttgggcccaggctCtggagttggaggctcagttt	5	12	16	8	0	3	0	1	0	2	0	3	2	3	2	1	6	0	4	1	6	0	3			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr19:59081801C>G	uc002qto.3	-	2	1051	c.490G>C	c.(490-492)Gag>Cag	p.E164Q	LOC100131691_uc002qtm.3_Non-coding_Transcript|MZF1_uc002qtn.3_Missense_Mutation_p.E164Q|MZF1_uc010euu.1_Missense_Mutation_p.E205Q	NM_198055	NP_932172	P28698	MZF1_HUMAN	Homo sapiens myeloid zinc finger 1 (MZF1), transcript variant 2, mRNA.	164					viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		GGCCCAGGCTCTGGAGTTGGA	0.582													G	59081801	C	G	59081801	3	3	110	1	0	0	0	0	1	0	0	0	10184	922	32	4	1730	4	MZF1	19	59081801	Missense_Mutation	SNP	C	TCGA-08-0386-01A-01D-1492-08	2542064	59081801	47182	16	7358											
MX1	4599	broad.mit.edu	37	chr21	42812934	42812934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcccaggaggtggaccccGagggagacaggaccatcggt	9	4	17	11	2	0	1	0	0	0	1	1	6	0	4	4	7	0	0	4	7	0	0			TCGA-08-0386-01A-01D-1492-08	TCGA-08-0386-11A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90bf7f8f-4b8c-410f-afa6-2b439ec82f97	868f58c2-6cf1-4ae3-8a35-daf8ab5ad727	g.chr21:42812934G>A	uc010goq.3	+	6	1058	c.712G>A	c.(712-714)Gag>Aag	p.E238K	MX1_uc002yzh.3_Missense_Mutation_p.E238K|MX1_uc002yzi.3_Missense_Mutation_p.E238K	NM_001178046	NP_002453	P20591	MX1_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse) (MX1), transcript variant 3, mRNA.	238					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding	p.P237S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				GGTGGACCCCGAGGGAGACAG	0.632													A	42812934	G	A	42812934	3	1	110	1	0	0	0	0	1	0	0	0	10073	1059	37	1	730	1	MX1	21	42812934	Missense_Mutation	SNP	G	TCGA-08-0386-01A-01D-1492-08		42812934	5316961	17	7359											
IL28RA	163702	broad.mit.edu	37	chr1	24507335	24507335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctggggaggggccagaCggggcctccctgggggaaag	7	5	19	10	1	1	1	0	0	1	1	2	3	2	3	3	8	0	0	3	8	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:24507335C>T	uc001bis.3	-	1	95	c.68G>A	c.(67-69)cGt>cAt	p.R23H	IL28RA_uc001bir.3_Missense_Mutation_p.R23H|IL28RA_uc001bit.3_Missense_Mutation_p.R23H|IL28RA_uc001biu.3_Intron|IL28RA_uc001biv.3_Missense_Mutation_p.R23H	NM_170743	NP_734464	Q8IU57	I28RA_HUMAN	Homo sapiens interleukin 28 receptor, alpha (interferon, lambda receptor) (IL28RA), transcript variant 1, mRNA.	23	Fibronectin type-III.				cytokine-mediated signaling pathway|negative regulation of cell proliferation|regulation of defense response to virus by host	interleukin-28 receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(4)	16		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00117)|all_lung(284;0.00151)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.21e-24)|Colorectal(126;6.61e-08)|COAD - Colon adenocarcinoma(152;3.56e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00918)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.185)		AGGGGCCAGACGGGGCCTCCC	0.612													T	24507335	C	T	24507335	3	4	111	1	0	0	0	0	1	0	0	0	7742	536	19	1	1518	1	IL28RA	1	24507335	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		24507335	224743286	1	7360											
C1orf177	163747	broad.mit.edu	37	chr1	55273597	55273597	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccggctcctacaacctcaaAgacttcttagaacagctgcg	11	8	7	15	2	2	2	1	0	1	2	3	2	3	2	3	1	5	2	3	1	5	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:55273597A>T	uc001cyb.4	+	3	447	c.393A>T	c.(391-393)aaA>aaT	p.K131N	C1orf177_uc001cya.4_Missense_Mutation_p.K131N	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	131										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACAACCTCAAAGACTTCTTAG	0.547													T	55273597	A	T	55273597	3	4	111	1	0	0	0	0	1	0	0	0	2037	69	3	5	407	5	C1orf177	1	55273597	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	30766262	55273597	193977024	2	7361											
CELSR2	1952	broad.mit.edu	37	chr1	109801473	109801473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagaactacatgcgctgcGtgtcggtgctgcgcttcgac	6	9	14	12	6	0	1	0	0	0	1	2	3	0	1	0	1	6	3	0	1	2	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:109801473G>A	uc001dxa.4	+	1	3791	c.3730G>A	c.(3730-3732)Gtg>Atg	p.V1244M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1244	EGF-like 1; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATGCGCTGCGTGTCGGTGCT	0.692													A	109801473	G	A	109801473	3	1	111	1	0	0	0	0	1	0	0	0	3252	1145	40	1	3736	1	CELSR2	1	109801473	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	54527876	109801473	139449148	3	7362											
MOV10	4343	broad.mit.edu	37	chr1	113239252	113239252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacctcttctgcttcccagGgctgatggaagtaaaggaaa	12	9	10	10	0	2	1	0	1	2	0	3	3	3	3	2	3	1	3	2	3	4	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:113239252G>A	uc001eck.3	+	14	2252	c.1982_splice	c.e14-1	p.G661_splice	MOV10_uc001ecl.2_Intron|MOV10_uc001ecn.3_Splice_Site_p.G661_splice|MOV10_uc001ecm.3_Splice_Site_p.G601_splice	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	661					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		TGCTTCCCAGGGCTGATGGAA	0.602													A	113239252	G	A	113239252	3	1	111	1	0	0	0	0	1	0	0	0	9794	1246	43	2	2032	2	MOV10	1	113239252	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	3437779	113239252	136011369	4	7363											
TCHHL1	126637	broad.mit.edu	37	chr1	152060548	152060548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccagtcagtgttgccccGttactgtcctcactggcata	6	12	9	14	1	2	0	2	0	0	0	3	0	3	0	4	1	3	3	4	1	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152060548G>A	uc001ezo.1	-	1	137	c.72C>T	c.(70-72)aaC>aaT	p.N24N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	24							calcium ion binding	p.N24N(2)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			GTGTTGCCCCGTTACTGTCCT	0.473													A	152060548	G	A	152060548	2	1	111	1	0	0	0	0	0	0	0	1	15801	1136	40	1		1	TCHHL1	1	152060548	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	38821296	152060548	97190073	5	7364											
FLG	2312	broad.mit.edu	37	chr1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacactggatccctggCgcctgcttctcctggacccc	4	9	10	18	1	2	0	1	0	1	0	4	2	3	2	5	4	1	2	5	4	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152278705C>T	uc001ezu.1	-	2	8693	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2886	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis				T	152278705	C	T	152278705	3	4	111	1	0	0	0	0	1	0	0	0	5971	768	27	1	3532	1	FLG	1	152278705	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	218157	152278705	96971916	6	7365											
KPRP	448834	broad.mit.edu	37	chr1	152733665	152733665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctactgtggcccatccaGttacaaccaggggcaagaga	11	7	10	13	0	0	1	0	0	0	1	2	2	2	1	4	3	3	2	4	3	4	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:152733665G>T	uc001fal.1	+	1	1659	c.1601G>T	c.(1600-1602)aGt>aTt	p.S534I	KPRP_uc021ozf.1_Missense_Mutation_p.S534I	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	534						cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCATCCAGTTACAACCAG	0.582													T	152733665	G	T	152733665	3	4	111	1	0	0	0	0	1	0	0	0	8494	1029	36	4	1603	4	KPRP	1	152733665	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	454960	152733665	96516956	7	7366											
DDR2	4921	broad.mit.edu	37	chr1	162749984	162749984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagatacgaagaaccGtccctcattccaagaaatcc	16	6	8	11	2	1	4	1	0	0	4	4	7	4	4	4	0	2	0	4	0	6	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:162749984G>A	uc001gcf.3	+	18	2981	c.2516G>A	c.(2515-2517)cGt>cAt	p.R839H	DDR2_uc001gcg.3_Missense_Mutation_p.R839H|AF268386_uc001gch.1_5'Flank	NM_001014796	NP_006173	Q16832	DDR2_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 2 (DDR2), transcript variant 1, mRNA.	839	Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACGAAGAACCGTCCCTCATTC	0.498													A	162749984	G	A	162749984	3	1	111	1	0	0	0	0	1	0	0	0	4371	1145	40	1	2578	1	DDR2	1	162749984	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	10016319	162749984	86500637	8	7367											
KIFAP3	22920	broad.mit.edu	37	chr1	170007466	170007466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccaagttatcaggatttCgagcaagctgcaggatcaaa	13	10	9	9	1	2	0	2	0	0	0	4	3	3	2	1	2	3	4	1	2	4	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:170007466C>T	uc001ggv.3	-	4	753	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	KIFAP3_uc021pep.1_Missense_Mutation_p.R121Q|KIFAP3_uc010ply.2_Missense_Mutation_p.R83Q|KIFAP3_uc001ggw.2_Missense_Mutation_p.R117Q	NM_014970	NP_001191446	Q92845	KIFA3_HUMAN	Homo sapiens kinesin-associated protein 3 (KIFAP3), transcript variant 1, mRNA.	161					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding	p.R161*(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCAGGATTTCGAGCAAGCTG	0.308													T	170007466	C	T	170007466	3	4	111	1	0	0	0	0	1	0	0	0	8369	884	31	1	1960	1	KIFAP3	1	170007466	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	7257482	170007466	79243155	9	7368											
FAM5B	57795	broad.mit.edu	37	chr1	177199272	177199272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttcaccaccaggtacaGgatttataggtaagtggggg	10	10	15	6	0	1	0	1	0	0	0	1	1	1	1	2	6	1	3	2	6	4	6			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr1:177199272G>A	uc001glf.3	+	1	572	c.260G>A	c.(259-261)aGg>aAg	p.R87K		NM_021165	NP_066988	Q9C0B6	FAM5B_HUMAN	Homo sapiens family with sequence similarity 5, member B (FAM5B), mRNA.	87						extracellular region				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(21)|liver(1)|lung(41)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	94						ACCAGGTACAGGATTTATAGG	0.612													A	177199272	G	A	177199272	3	1	111	1	0	0	0	0	1	0	0	0	5643	1000	35	2	262	2	FAM5B	1	177199272	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	7191806	177199272	72051349	10	7369											
ZAP70	7535	broad.mit.edu	37	chr2	98354224	98354224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctccccctccccaggcccGctcagcagggaagtggccgc	6	5	11	19	2	2	0	1	0	1	0	4	1	3	1	6	3	1	2	6	3	1	0	rs150631046		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:98354224G>A	uc002syd.1	+	11	1694	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	ZAP70_uc002sye.1_Missense_Mutation_p.R386H|ZAP70_uc002syf.1_Missense_Mutation_p.R189H	NM_001079	NP_997402	P43403	ZAP70_HUMAN	Homo sapiens zeta-chain (TCR) associated protein kinase 70kDa (ZAP70), transcript variant 1, mRNA.	496	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.A495V(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CCCCAGGCCCGCTCAGCAGGG	0.627													A	98354224	G	A	98354224	3	1	111	1	0	0	0	0	1	0	0	0	17616	1087	38	1	1525	1	ZAP70	2	98354224	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		98354224	144845149	11	7370											
SCN7A	6332	broad.mit.edu	37	chr2	167262324	167262324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatcttaaaagggttggcTaacaaaaaccctgattctat	14	12	8	7	0	2	2	0	2	2	0	2	2	2	2	1	2	2	2	1	2	6	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:167262324T>C	uc002udu.2	-	24	4945	c.4815A>G	c.(4813-4815)ttA>ttG	p.L1605L	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1605					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAGGGTTGGCTAACAAAAACC	0.368													C	167262324	T	C	167262324	2	2	111	1	0	0	0	0	0	0	0	1	14016	1519	53	3		3	SCN7A	2	167262324	Silent	SNP	T	TCGA-12-0615-01A-01D-1492-08	68908100	167262324	75937049	12	7371											
DNAH7	56171	broad.mit.edu	37	chr2	196741332	196741332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccaattttgacatgacaAtattctgagtttgagctgct	10	16	8	7	0	1	4	0	4	1	0	2	4	2	4	1	0	2	3	1	0	3	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:196741332A>G	uc002utj.4	-	36	6154	c.6053T>C	c.(6052-6054)aTt>aCt	p.I2018T		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	2018	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TGACATGACAATATTCTGAGT	0.363													G	196741332	A	G	196741332	3	3	111	1	0	0	0	0	1	0	0	0	4645	101	4	3	6137	3	DNAH7	2	196741332	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	29479008	196741332	46458041	13	7372											
AAMP	14	broad.mit.edu	37	chr2	219131281	219131281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagctgtgcccgccaacagGacaggtgcccgaggatgcca	9	5	13	14	2	1	0	1	0	0	0	1	3	1	2	4	3	5	1	4	3	1	0			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr2:219131281G>A	uc002vhl.3	-	4	651	c.567C>T	c.(565-567)gtC>gtT	p.V189V	AAMP_uc002vhk.3_Silent_p.V188V	NM_001087	NP_001078	Q13685	AAMP_HUMAN	Homo sapiens angio-associated, migratory cell protein (AAMP), mRNA.	188					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding			haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGCCAACAGGACAGGTGCCC	0.642													A	219131281	G	A	219131281	2	1	111	1	0	0	0	0	0	0	0	1	17	1161	41	2		2	AAMP	2	219131281	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	22389949	219131281	24068092	14	7373											
SHISA5	51246	broad.mit.edu	37	chr3	48538580	48538580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcacccacctggcctcagGcacagcacacctttcctcgc	7	7	8	19	1	1	0	1	0	0	0	3	0	2	0	5	2	2	3	5	2	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:48538580G>A	uc003ctp.1	-	1	357	c.223C>T	c.(223-225)Cct>Tct	p.P75S	SHISA5_uc003cto.1_Missense_Mutation_p.P44S|SHISA5_uc003cts.1_Missense_Mutation_p.P44S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	75					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						CTGGCCTCAGGCACAGCACAC	0.572													A	48538580	G	A	48538580	3	1	111	1	0	0	0	0	1	0	0	0	14377	1203	42	2	519	2	SHISA5	3	48538580	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		48538580	149483850	15	7374											
ERC2	26059	broad.mit.edu	37	chr3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggagaccttggcaaaCgaggggatctggaagggcta	13	5	16	7	2	1	1	0	0	1	1	1	6	1	3	1	6	2	2	1	6	4	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:56468977C>T	uc021wzo.1	-	0	199	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC2_uc003dhr.1_Missense_Mutation_p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	20						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R20H(3)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													T	56468977	C	T	56468977	3	4	111	1	0	0	0	0	1	0	0	0	5252	536	19	1	2868	1	ERC2	3	56468977	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	7930397	56468977	141553453	16	7375											
FAM19A1	407738	broad.mit.edu	37	chr3	68055847	68055847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgctactctgccatggatcCcttcagcacactttccagca	9	11	6	15	0	2	0	1	0	1	0	4	1	4	1	3	1	5	3	3	1	1	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:68055847C>T	uc003dnd.3	+	1	294	c.78C>T	c.(76-78)tcC>tcT	p.S26S	FAM19A1_uc003dne.3_Silent_p.S26S|FAM19A1_uc003dng.3_Silent_p.S26S|FAM19A1_uc003dnf.1_Non-coding_Transcript	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	26						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		GCCATGGATCCCTTCAGCACA	0.502													T	68055847	C	T	68055847	2	4	111	1	0	0	0	0	0	0	0	1	5578	610	22	2		2	FAM19A1	3	68055847	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	11586870	68055847	129966583	17	7376											
CNTN3	5067	broad.mit.edu	37	chr3	74316462	74316462	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctccatggctttaacttgCtcccaattaagtaacacttt	10	16	4	11	0	1	0	0	0	1	0	3	0	2	0	2	1	3	3	2	1	4	7			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:74316462C>A	uc003dpm.1	-	19	2852	c.2772G>T	c.(2770-2772)gaG>gaT	p.E924D		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	924	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTAACTTGCTCCCAATTAA	0.358													A	74316462	C	A	74316462	3	1	111	1	0	0	0	0	1	0	0	0	3673	796	28	4	326	4	CNTN3	3	74316462	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	6260615	74316462	123705968	18	7377											
LEPREL1	55214	broad.mit.edu	37	chr3	189700930	189700930	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcactcctgaagggaccCtgcccattcaaaaaatttaa	13	10	6	12	1	2	1	2	1	0	0	3	2	3	2	3	1	1	1	3	1	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr3:189700930C>T	uc011bsk.2	-	8	1618	c.1230_splice	c.e8-1	p.R410_splice	LEPREL1_uc003fsg.3_Splice_Site_p.R229_splice	NM_018192	NP_001127890	Q8IVL5	P3H2_HUMAN	Homo sapiens leprecan-like 1 (LEPREL1), transcript variant 1, mRNA.	410					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TGAAGGGACCCTGCCCATTCA	0.393													T	189700930	C	T	189700930	5	4	111	1	0	0	0	0	0	0	1	0	8789	695	24	2	929	2	LEPREL1	3	189700930	Splice_Site	SNP	C	TCGA-12-0615-01A-01D-1492-08	115384468	189700930	8321500	19	7378											
WDR1	9948	broad.mit.edu	37	chr4	10086069	10086070	+	Frame_Shift_Ins	INS	-	-	T																															tttgagtcaaaggatattaaINStgtgtccgtcgtggctccca																										TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:10086069_10086070insT	uc021xlv.1	-	8	1319_1320	c.1036_1037insA	c.(1036-1038)attfs	p.I346fs	WDR1_uc021xlw.1_Frame_Shift_Ins_p.I206fs|WDR1_uc003gmh.2_Non-coding_Transcript|WDR1_uc021xly.1_Frame_Shift_Ins_p.I181fs|WDR1_uc010idm.3_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	346					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		AAGGATATTAATGTGTCCGTCG	0.55													T	10086070	-	T	10086069	7	5	111	1	0	1	1	0	0	0	0	0	17374	101	4	0	811	0	WDR1	4	10086069	Frame_Shift_Ins	INS	-	TCGA-12-0615-01A-01D-1492-08		10086069	181068207	20	7379											
FRYL	285527	broad.mit.edu	37	chr4	48622786	48622786	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctactgagctcatagAgcttatcaactgaaaacaca	14	10	6	11	0	3	3	2	2	1	1	3	3	3	3	0	0	6	3	0	0	6	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:48622786A>C	uc003gyh.1	-	5	789	c.184T>G	c.(184-186)Tct>Gct	p.S62A	FRYL_uc003gyk.3_Missense_Mutation_p.S62A|FRYL_uc003gyl.1_Missense_Mutation_p.S113A|FRYL_uc003gym.1_Missense_Mutation_p.S62A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GAGCTCATAGAGCTTATCAAC	0.363													C	48622786	A	C	48622786	3	2	111	1	0	0	0	0	1	0	0	0	6116	304	11	5	9093	5	FRYL	4	48622786	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	38536717	48622786	142531490	21	7380											
SFRP2	6423	broad.mit.edu	37	chr4	154702675	154702675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctgccaccgcttcacCgaggtgatcaccagctcccc	6	8	7	20	2	3	1	2	1	1	0	4	2	4	1	7	1	2	2	7	1	0	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr4:154702675C>T	uc003inv.1	-	2	1057	c.816G>A	c.(814-816)tcG>tcA	p.S272S		NM_003013	NP_003004	Q96HF1	SFRP2_HUMAN	Homo sapiens secreted frizzled-related protein 2 (SFRP2), mRNA.	272	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding	p.S272S(2)		breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				ACCGCTTCACCGAGGTGATCA	0.592													T	154702675	C	T	154702675	2	4	111	1	0	0	0	0	0	0	0	1	14255	639	23	1		1	SFRP2	4	154702675	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	106079889	154702675	36451601	22	7381											
VCAN	1462	broad.mit.edu	37	chr5	82815367	82815367	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccacagtccaacctcaggcTatcacagatagtttagccac	12	8	7	14	0	2	1	2	0	0	1	3	1	3	1	4	1	2	2	4	1	4	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:82815367T>C	uc003kii.3	+	6	1598	c.1242T>C	c.(1240-1242)gcT>gcC	p.A414A	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Silent_p.A414A|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	414	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AACCTCAGGCTATCACAGATA	0.463													C	82815367	T	C	82815367	2	2	111	1	0	0	0	0	0	0	0	1	17240	1509	53	3		3	VCAN	5	82815367	Silent	SNP	T	TCGA-12-0615-01A-01D-1492-08		82815367	98099893	23	7382											
TRIM7	81786	broad.mit.edu	37	chr5	180622296	180622296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagaaggacacggctcccAcctccaggtccagggccacc	9	4	11	17	2	0	1	0	0	0	1	3	2	3	2	6	4	0	2	6	4	2	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr5:180622296A>G	uc003mmz.1	-	6	1473	c.1406T>C	c.(1405-1407)gTg>gCg	p.V469A	TRIM7_uc003mmv.1_Missense_Mutation_p.V287A|TRIM7_uc003mmw.1_Missense_Mutation_p.V261A|TRIM7_uc003mmy.1_Missense_Mutation_p.V261A|TRIM7_uc003mmx.1_Missense_Mutation_p.V261A	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	469	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		CACGGCTCCCACCTCCAGGTC	0.672													G	180622296	A	G	180622296	3	3	111	1	0	0	0	0	1	0	0	0	16644	159	6	3	133	3	TRIM7	5	180622296	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	97806929	180622296	292964	24	7383											
ANKS1A	23294	broad.mit.edu	37	chr6	34935028	34935028	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgatagcatgtggagaggGccaaatgtgaactgtgttga	11	10	14	6	0	0	4	0	3	0	1	0	5	0	4	2	2	2	2	2	2	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:34935028G>A	uc003ojx.4	+	1	352	c.210G>A	c.(208-210)ggG>ggA	p.G70G	ANKS1A_uc011dst.2_5'UTR|ANKS1A_uc010jvp.2_5'UTR|ANKS1A_uc010jvq.1_5'Flank	NM_015245	NP_056060	Q92625	ANS1A_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 1A (ANKS1A), mRNA.	70						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGTGGAGAGGGCCAAATGTGA	0.423													A	34935028	G	A	34935028	2	1	111	1	0	0	0	0	0	0	0	1	688	1190	42	2		2	ANKS1A	6	34935028	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08		34935028	136180039	25	7384											
GLP1R	2740	broad.mit.edu	37	chr6	39033981	39033981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccacagagctccccGgaggagcagctcctgttcct	6	8	12	15	2	0	1	0	0	0	1	3	3	3	3	5	2	4	4	5	2	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:39033981G>A	uc003ooj.4	+	4	471	c.411G>A	c.(409-411)ccG>ccA	p.P137P	GLP1R_uc003ooh.2_Non-coding_Transcript|GLP1R_uc003ooi.2_Non-coding_Transcript	NM_002062	NP_002053	P43220	GLP1R_HUMAN	Homo sapiens glucagon-like peptide 1 receptor (GLP1R), mRNA.	137				P -> R (in Ref. 4; no nucleotide entry).|SP -> WG (in Ref. 1; AAA03614).	activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	AGAGCTCCCCGGAGGAGCAGC	0.597													A	39033981	G	A	39033981	2	1	111	1	0	0	0	0	0	0	0	1	6508	1103	39	1		1	GLP1R	6	39033981	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	4098953	39033981	132081086	26	7385											
RNF217	154214	broad.mit.edu	37	chr6	125379096	125379096	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttacacagatccagtgCcctacctgccaattcgtctg	8	13	6	14	1	2	1	0	0	2	1	4	1	3	1	4	0	4	0	4	0	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:125379096C>T	uc003pzr.3	+	2	954	c.420C>T	c.(418-420)tgC>tgT	p.C140C	RNF217_uc003pzs.3_Silent_p.C83C|RNF217_uc003pzt.3_Non-coding_Transcript			Q8TC41	RN217_HUMAN	Homo sapiens ring finger protein 217 (RNF217), mRNA.	83					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		AGATCCAGTGCCCTACCTGCC	0.388													T	125379096	C	T	125379096	2	4	111	1	0	0	0	0	0	0	0	1	13572	747	26	2		2	RNF217	6	125379096	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	86345115	125379096	45735971	27	7386											
HECA	51696	broad.mit.edu	37	chr6	139495543	139495543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagactcatgcatctgtatgCcgtgtgcgtggactgcctgg	6	11	14	10	2	2	1	1	0	1	1	2	3	2	2	2	2	4	2	2	2	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr6:139495543C>T	uc003qin.3	+	2	1619	c.1334C>T	c.(1333-1335)gCc>gTc	p.A445V		NM_016217	NP_057301	Q9UBI9	HDC_HUMAN	Homo sapiens headcase homolog (Drosophila) (HECA), mRNA.	445					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		CATCTGTATGCCGTGTGCGTG	0.502													T	139495543	C	T	139495543	3	4	111	1	0	0	0	0	1	0	0	0	7093	739	26	2	1344	2	HECA	6	139495543	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	14116447	139495543	31619524	28	7387											
SEPT14	346288	broad.mit.edu	37	chr7	55874801	55874801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctaactggctggttgtttGgacccacatctgtaaagccc	9	11	9	12	0	1	0	0	0	1	0	1	1	1	1	3	3	2	4	3	3	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:55874801G>C	uc003tqz.2	-	7	1085	c.968C>G	c.(967-969)cCa>cGa	p.P323R		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	323					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGGTTGTTTGGACCCACATC	0.368													C	55874801	G	C	55874801	3	2	111	1	0	0	0	0	1	0	0	0	14156	1348	47	4	342	4	SEPT14	7	55874801	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		55874801	103263862	29	7388											
TRIM4	89122	broad.mit.edu	37	chr7	99507253	99507253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttcttcatcttggccaCgagattacgctgagacttaa	10	13	8	10	2	3	2	1	1	2	2	3	5	3	2	1	1	1	1	1	1	2	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:99507253C>T	uc003usd.3	-	2	701	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	TRIM4_uc003use.3_Missense_Mutation_p.V142M|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Missense_Mutation_p.V142M	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	168					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				ATCTTGGCCACGAGATTACGC	0.418													T	99507253	C	T	99507253	3	4	111	1	0	0	0	0	1	0	0	0	16615	536	19	1	1020	1	TRIM4	7	99507253	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	43632452	99507253	59631410	30	7389											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138447096	138447096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactaaccccaactttccGgtcatatatgcaggcactgc	11	10	6	14	1	1	0	1	0	0	0	2	0	2	0	3	2	5	2	3	2	5	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr7:138447096G>A	uc003vuf.3	-	5	739	c.501C>T	c.(499-501)acC>acT	p.T167T	ATP6V0A4_uc003vug.3_Silent_p.T167T|ATP6V0A4_uc003vuh.3_Silent_p.T167T	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	167					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAACTTTCCGGTCATATATG	0.458													A	138447096	G	A	138447096	2	1	111	1	0	0	0	0	0	0	0	1	1175	1103	39	1		1	ATP6V0A4	7	138447096	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	38939843	138447096	20691567	31	7390											
SGK223	157285	broad.mit.edu	37	chr8	8239066	8239066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaggcggcagttctcAggcctgggaggcaggcgcgg	5	7	17	12	3	2	0	1	0	2	0	4	1	3	1	2	7	0	3	2	7	0	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:8239066A>G	uc003wsh.4	-	0	192	c.192T>C	c.(190-192)ccT>ccC	p.P64P		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	64							ATP binding|non-membrane spanning protein tyrosine kinase activity										GGCAGTTCTCAGGCCTGGGAG	0.652													G	8239066	A	G	8239066	2	3	111	1	0	0	0	0	0	0	0	1	14303	175	7	3		3	SGK223	8	8239066	Silent	SNP	A	TCGA-12-0615-01A-01D-1492-08		8239066	138124956	32	7391											
VCPIP1	80124	broad.mit.edu	37	chr8	67546807	67546807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccatctcttcaagctcctCcacggaatttcccctttgtg	7	14	5	15	1	2	0	1	0	1	0	7	1	6	1	5	1	1	1	5	1	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:67546807C>A	uc003xwn.3	-	2	3857	c.3598G>T	c.(3598-3600)Gag>Tag	p.E1200*		NM_025054	NP_079330	Q96JH7	VCIP1_HUMAN	Homo sapiens valosin containing protein (p97)/p47 complex interacting protein 1 (VCPIP1), mRNA.	1200					protein ubiquitination	endoplasmic reticulum|Golgi stack	ubiquitin-specific protease activity			breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			TCAAGCTCCTCCACGGAATTT	0.428													A	67546807	C	A	67546807	4	1	111	1	0	0	0	0	0	1	0	0	17243	864	30	4	74	4	VCPIP1	8	67546807	Nonsense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	59307741	67546807	78817215	33	7392											
SLC25A32	81034	broad.mit.edu	37	chr8	104412724	104412724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagcaggctggagtcactCtaatcaaattaggagcaatt	14	10	9	8	0	3	0	2	0	1	0	3	2	3	2	0	3	3	3	0	3	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr8:104412724C>G	uc003yll.3	-	6	1166	c.863G>C	c.(862-864)aGa>aCa	p.R288T	SLC25A32_uc011lhr.2_Missense_Mutation_p.R156T	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	288					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TGGAGTCACTCTAATCAAATT	0.368													G	104412724	C	G	104412724	3	3	111	1	0	0	0	0	1	0	0	0	14590	913	32	4	88	4	SLC25A32	8	104412724	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	36865917	104412724	41951298	34	7393											
RECK	8434	broad.mit.edu	37	chr9	36060144	36060144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaattgtatgaattcatCtttgccaggtaagcaataaa	14	14	8	5	0	2	1	1	1	1	0	2	2	2	2	1	2	2	3	1	2	7	7			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:36060144C>G	uc003zyv.3	+	3	349	c.263C>G	c.(262-264)tCt>tGt	p.S88C	RECK_uc003zyu.4_Missense_Mutation_p.S88C|RECK_uc003zyw.3_5'UTR|RECK_uc010mle.1_Intron|RECK_uc003zyx.3_Non-coding_Transcript	NM_021111	NP_066934	O95980	RECK_HUMAN	Homo sapiens reversion-inducing-cysteine-rich protein with kazal motifs (RECK), mRNA.	88	5 X Knot repeats.					anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			ATGAATTCATCTTTGCCAGGT	0.299													G	36060144	C	G	36060144	3	3	111	1	0	0	0	0	1	0	0	0	13288	913	32	4	277	4	RECK	9	36060144	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		36060144	105153287	35	7394											
TMEM2	23670	broad.mit.edu	37	chr9	74345061	74345061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcggtgggcaggagagtacCcggcttggtgaggagtccca	8	7	17	9	2	0	2	0	1	0	1	2	4	1	3	2	6	1	3	2	6	1	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:74345061C>T	uc011lsa.1	-	8	2422	c.1882G>A	c.(1882-1884)Ggt>Agt	p.G628S	TMEM2_uc010mos.2_Missense_Mutation_p.G565S|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	628						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGGAGAGTACCCGGCTTGGTG	0.458													T	74345061	C	T	74345061	3	4	111	1	0	0	0	0	1	0	0	0	16221	623	22	2	2333	2	TMEM2	9	74345061	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	38284917	74345061	66868370	36	7395											
WNK2	65268	broad.mit.edu	37	chr9	96030055	96030055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgactttatcctgcaggccGagcgggaaacgttcatcgag	10	9	12	10	4	1	1	1	1	0	0	3	4	2	2	2	2	3	2	2	2	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:96030055G>A	uc004ati.1	+	15	3724	c.3724G>A	c.(3724-3726)Gag>Aag	p.E1242K	WNK2_uc011lud.1_Missense_Mutation_p.E1242K|WNK2_uc004atj.3_Missense_Mutation_p.E1242K|WNK2_uc004atk.3_Missense_Mutation_p.E879K	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1242					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCTGCAGGCCGAGCGGGAAAC	0.577													A	96030055	G	A	96030055	3	1	111	1	0	0	0	0	1	0	0	0	17480	1059	37	1	3786	1	WNK2	9	96030055	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	21684994	96030055	45183376	37	7396											
NANS	54187	broad.mit.edu	37	chr9	100823174	100823174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcctgggggaagacgtaCggggagcacaaacgacatct	12	6	13	10	3	1	1	0	0	1	1	2	4	2	3	1	4	3	2	1	4	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:100823174C>T	uc004ayc.3	+	1	375	c.243C>T	c.(241-243)taC>taT	p.Y81Y		NM_018946	NP_061819	Q9NR45	SIAS_HUMAN	Homo sapiens N-acetylneuraminic acid synthase (NANS), mRNA.	81					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GGAAGACGTACGGGGAGCACA	0.527													T	100823174	C	T	100823174	2	4	111	1	0	0	0	0	0	0	0	1	10231	547	19	1		1	NANS	9	100823174	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	4793119	100823174	40390257	38	7397											
SVEP1	79987	broad.mit.edu	37	chr9	113173811	113173811	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgccctgggcattgcaGagaagctgggaattgtctgc	8	10	13	10	0	1	1	0	0	1	1	1	3	1	2	1	2	4	3	1	2	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr9:113173811G>T	uc010mtz.3	-	36	6517	c.6180C>A	c.(6178-6180)ctC>ctA	p.L2060L	SVEP1_uc010mty.3_5'UTR	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2060	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGGCATTGCAGAGAAGCTGGG	0.512													T	113173811	G	T	113173811	2	4	111	1	0	0	0	0	0	0	0	1	15516	929	33	4		4	SVEP1	9	113173811	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	12350637	113173811	28039620	39	7398											
FAM13C	220965	broad.mit.edu	37	chr10	61023889	61023889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcattcatccatttcAggacttcaggattagaagtc	13	12	6	10	0	4	1	4	0	0	1	6	3	5	3	2	2	0	0	2	2	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr10:61023889A>G	uc010qif.1	-	8	1112	c.1046T>C	c.(1045-1047)cTg>cCg	p.L349P	FAM13C_uc010qid.2_Missense_Mutation_p.L244P|FAM13C_uc001jkn.3_Missense_Mutation_p.L327P|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.L244P|FAM13C_uc001jkp.3_Missense_Mutation_p.L244P	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	327										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CATCCATTTCAGGACTTCAGG	0.453													G	61023889	A	G	61023889	3	3	111	1	0	0	0	0	1	0	0	0	5499	188	7	3	801	3	FAM13C	10	61023889	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08		61023889	74510858	40	7399											
DCHS1	8642	broad.mit.edu	37	chr11	6655171	6655171	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacttatactggcagcataCtcccgtggataaaactgagg	12	9	10	10	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:6655171C>G	uc001mem.1	-	3	2468	c.2067G>C	c.(2065-2067)gaG>gaC	p.E689D		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	689	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R688L(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGCATACTCCCGTGGAT	0.557													G	6655171	C	G	6655171	3	3	111	1	0	0	0	0	1	0	0	0	4321	564	20	4	7901	4	DCHS1	11	6655171	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		6655171	128351345	41	7400											
WT1	7490	broad.mit.edu	37	chr11	32450114	32450114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaactgcgccgcatggtgcGagggcgtgtgaccgtagctg	6	7	18	10	5	0	1	0	1	0	0	0	3	0	2	2	3	4	3	2	3	2	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:32450114G>A	uc001mtn.2	-	1	888	c.698C>T	c.(697-699)tCg>tTg	p.S233L	WT1_uc001mtl.2_Missense_Mutation_p.S21L|WT1_uc001mtm.2_Missense_Mutation_p.S21L|WT1_uc001mto.2_Missense_Mutation_p.S233L|WT1_uc001mtq.2_Missense_Mutation_p.S233L|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	165					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.?(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			CGCATGGTGCGAGGGCGTGTG	0.632			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				A	32450114	G	A	32450114	3	1	111	1	0	0	0	0	1	0	0	0	17510	1059	37	1	891	1	WT1	11	32450114	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	25794943	32450114	102556402	42	7401											
SLC22A25	387601	broad.mit.edu	37	chr11	62948177	62948177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttacatatgttgggtatgCggagcaattcacaaagagaa	14	12	10	5	1	1	1	1	0	0	1	1	3	1	2	0	2	3	3	0	2	6	6			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:62948177C>T	uc001nwr.1	-	5	1025	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript|SLC22A25_uc001nwt.1_Missense_Mutation_p.R342H	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	342					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						GTTGGGTATGCGGAGCAATTC	0.383													T	62948177	C	T	62948177	3	4	111	1	0	0	0	0	1	0	0	0	14548	768	27	1	634	1	SLC22A25	11	62948177	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	30498063	62948177	72058339	43	7402											
ARAP1	116985	broad.mit.edu	37	chr11	72423533	72423533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcatccccttggtcGtccccagacagttcctctcc	4	13	5	19	1	3	1	1	0	2	1	9	1	7	1	7	1	0	1	7	1	0	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:72423533G>A	uc001osu.3	-	5	1017	c.828C>T	c.(826-828)gaC>gaT	p.D276D	ARAP1_uc001osv.3_Silent_p.D276D|ARAP1_uc001osr.3_Silent_p.D36D|ARAP1_uc001oss.3_Silent_p.D31D|ARAP1_uc009yth.3_Silent_p.D31D|ARAP1_uc010rre.2_Silent_p.D31D	NM_001040118	NP_056057	Q96P48	ARAP1_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1 (ARAP1), transcript variant 3, mRNA.	276					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCCTTGGTCGTCCCCAGACA	0.682													A	72423533	G	A	72423533	2	1	111	1	0	0	0	0	0	0	0	1	841	1136	40	1		1	ARAP1	11	72423533	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	9475356	72423533	62582983	44	7403											
PRCP	5547	broad.mit.edu	37	chr11	82564244	82564244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagttgtcaccaaaggggAgagactctccatagtatcga	13	9	11	8	1	2	2	1	1	1	1	4	5	2	3	2	2	0	2	2	2	3	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr11:82564244A>G	uc001ozs.3	-	2	499	c.386T>C	c.(385-387)cTc>cCc	p.L129P	PRCP_uc001ozr.3_Missense_Mutation_p.L150P	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	129					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						ACCAAAGGGGAGAGACTCTCC	0.363													G	82564244	A	G	82564244	3	3	111	1	0	0	0	0	1	0	0	0	12535	304	11	3	1132	3	PRCP	11	82564244	Missense_Mutation	SNP	A	TCGA-12-0615-01A-01D-1492-08	10140711	82564244	52442272	45	7404											
TMEM19	55266	broad.mit.edu	37	chr12	72092727	72092727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttgtctccagtctccttGgtggtacctttgtgggcatt	3	16	11	11	0	2	0	0	0	2	0	4	0	2	0	4	3	1	2	4	3	1	5			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:72092727G>A	uc001sws.3	+	4	1268	c.685G>A	c.(685-687)Ggt>Agt	p.G229S	TMEM19_uc001swr.1_Missense_Mutation_p.G215S	NM_018279	NP_060749	Q96HH6	TMM19_HUMAN	Homo sapiens transmembrane protein 19 (TMEM19), mRNA.	229						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CAGTCTCCTTGGTGGTACCTT	0.443													A	72092727	G	A	72092727	3	1	111	1	0	0	0	0	1	0	0	0	16213	1348	47	2	703	2	TMEM19	12	72092727	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		72092727	61759168	46	7405											
SOCS2	8835	broad.mit.edu	37	chr12	93968661	93968661	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaatcgaataccaagaCggaaaattcagattggactc	15	9	8	9	3	1	2	1	0	0	2	4	6	1	4	1	2	1	0	1	2	6	4	rs148086876		TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:93968661C>T	uc001tcw.1	+	2	893	c.303C>T	c.(301-303)gaC>gaT	p.D101D	SOCS2_uc021rbx.1_Silent_p.D101D|SOCS2_uc001tcy.1_Silent_p.D101D|SOCS2_uc001tcz.3_3'UTR	NM_003877	NP_003868	O14508	SOCS2_HUMAN	Homo sapiens suppressor of cytokine signaling 2 (SOCS2), mRNA.	101	SH2.				anti-apoptosis|growth hormone receptor signaling pathway|JAK-STAT cascade|negative regulation of signal transduction|regulation of cell growth|response to estradiol stimulus	cytoplasm	growth hormone receptor binding|insulin-like growth factor receptor binding|JAK pathway signal transduction adaptor activity|prolactin receptor binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)	14						AATACCAAGACGGAAAATTCA	0.378													T	93968661	C	T	93968661	2	4	111	1	0	0	0	0	0	0	0	1	15008	535	19	1		1	SOCS2	12	93968661	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	21875934	93968661	39883234	47	7406											
RIC8B	55188	broad.mit.edu	37	chr12	107208579	107208579	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccagagacaaaaaggttTtagttcctgtgacaactaag	14	11	8	8	0	1	2	0	1	1	1	3	3	2	2	2	1	1	2	2	1	5	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:107208579T>G	uc001tlw.3	+	2	363	c.238T>G	c.(238-240)Tta>Gta	p.L80V	RIC8B_uc001tlx.3_Missense_Mutation_p.L80V|RIC8B_uc001tly.3_Missense_Mutation_p.L40V|RIC8B_uc001tlz.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	80					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAAAAAGGTTTTAGTTCCTGT	0.413													G	107208579	T	G	107208579	3	3	111	1	0	0	0	0	1	0	0	0	13445	1838	64	5	248	5	RIC8B	12	107208579	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	13239918	107208579	26643316	48	7407											
MLXIP	22877	broad.mit.edu	37	chr12	122613736	122613736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatcgagattgtgatccGggagtatcacaagtggagaa	12	8	13	8	3	1	3	1	1	0	2	3	6	2	4	2	2	0	2	2	2	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr12:122613736G>A	uc001ubq.3	+	3	767	c.659G>A	c.(658-660)cGg>cAg	p.R220Q	MLXIP_uc001ubr.3_5'UTR|MLXIP_uc001ubs.1_5'Flank	NM_014938	NP_055753	Q9HAP2	MLXIP_HUMAN	Homo sapiens MLX interacting protein (MLXIP), mRNA.	220	Required for cytoplasmic localization.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	p.R220Q(2)		NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		ATTGTGATCCGGGAGTATCAC	0.557													A	122613736	G	A	122613736	3	1	111	1	0	0	0	0	1	0	0	0	9711	1116	39	1	673	1	MLXIP	12	122613736	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	15405157	122613736	11238159	49	7408											
NUBP1	4682	broad.mit.edu	37	chr16	10837884	10837884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggatgccccaaccagcGgctgtgcgcttctggagcgg	6	7	15	13	3	2	0	1	0	1	0	2	2	2	2	3	4	5	2	3	4	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr16:10837884G>A	uc002daa.1	+	1	109	c.86G>A	c.(85-87)cGg>cAg	p.R29Q	NUBP1_uc010bum.1_5'UTR|NUBP1_uc002dab.1_Missense_Mutation_p.R29Q	NM_002484	NP_002475	P53384	NUBP1_HUMAN	Homo sapiens nucleotide binding protein 1 (NUBP1), mRNA.	29					cell growth|cellular iron ion homeostasis|iron-sulfur cluster assembly	cytosol	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|nucleoside-triphosphatase activity|protein binding			large_intestine(2)|lung(3)|ovary(1)|skin(4)	10						CCCAACCAGCGGCTGTGCGCT	0.657													A	10837884	G	A	10837884	3	1	111	1	0	0	0	0	1	0	0	0	10791	1116	39	1	92	1	NUBP1	16	10837884	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		10837884	79516869	50	7409											
C17orf74	201243	broad.mit.edu	37	chr17	7330635	7330635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaccctgcccctccccCgaccatgtttgtcccactca	5	9	7	20	2	1	0	1	0	0	0	3	2	3	1	7	1	2	1	7	1	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:7330635C>T	uc002ggw.3	+	2	1398	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	SPEM1_uc010vtw.1_Intron	NM_175734	NP_783861	Q0P670	CQ074_HUMAN	Homo sapiens chromosome 17 open reading frame 74 (C17orf74), mRNA.	442						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				GCCCCTCCCCCGACCATGTTT	0.647													T	7330635	C	T	7330635	3	4	111	1	0	0	0	0	1	0	0	0	1896	652	23	1	1335	1	C17orf74	17	7330635	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		7330635	73864575	51	7410											
PIK3R5	23533	broad.mit.edu	37	chr17	8792082	8792082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagcagggaatctctctcgGcacagtgcccgtcagtttcc	8	9	11	13	2	3	1	1	0	2	1	6	2	4	2	2	2	2	3	2	2	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:8792082G>A	uc002glt.3	-	9	1089	c.1022C>T	c.(1021-1023)gCc>gTc	p.A341V	PIK3R5_uc010vuz.2_Missense_Mutation_p.A341V|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	341				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						ATCTCTCTCGGCACAGTGCCC	0.617													A	8792082	G	A	8792082	3	1	111	1	0	0	0	0	1	0	0	0	11999	1203	42	2	1660	2	PIK3R5	17	8792082	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	1461447	8792082	72403128	52	7411											
FBXW10	10517	broad.mit.edu	37	chr17	18651317	18651317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccacagctccaagtctgCgacctcacaagtctattgga	12	8	8	13	1	3	1	1	0	2	1	4	3	4	2	3	1	2	1	3	1	3	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:18651317C>T	uc002gul.3	+	1	801	c.569C>T	c.(568-570)gCg>gTg	p.A190V	FBXW10_uc002guj.3_Missense_Mutation_p.A190V|FBXW10_uc002guk.3_Missense_Mutation_p.A190V|FBXW10_uc010cqh.2_Missense_Mutation_p.A190V	NM_031456	NP_113644	Q5XX13	FBW10_HUMAN	Homo sapiens F-box and WD repeat domain containing 10 (FBXW10), mRNA.	190										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCAAGTCTGCGACCTCACAA	0.478													T	18651317	C	T	18651317	3	4	111	1	0	0	0	0	1	0	0	0	5812	768	27	1	575	1	FBXW10	17	18651317	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	9859235	18651317	62543893	53	7412											
PIPOX	51268	broad.mit.edu	37	chr17	27380567	27380567	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatcacagcaggtccttGgaccaaccagctcctccgtc	8	8	9	16	1	2	0	2	0	0	0	6	1	5	1	5	3	3	2	5	3	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:27380567G>C	uc002hdr.1	+	3	940	c.614G>C	c.(613-615)tGg>tCg	p.W205S		NM_016518	NP_057602	Q9P0Z9	SOX_HUMAN	Homo sapiens pipecolic acid oxidase (PIPOX), mRNA.	205					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	GCAGGTCCTTGGACCAACCAG	0.567													C	27380567	G	C	27380567	3	2	111	1	0	0	0	0	1	0	0	0	12020	1357	47	4	628	4	PIPOX	17	27380567	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	8729250	27380567	53814643	54	7413											
SLC35B1	10237	broad.mit.edu	37	chr17	47780551	47780551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctttcaagcactcaccTgacccagggcactggtcagc	8	8	8	17	0	3	1	3	1	0	0	4	1	4	1	4	2	2	2	4	2	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:47780551T>C	uc002iph.1	-	7	849	c.762_splice	c.e7+1	p.Q254_splice	SLC35B1_uc002ipj.1_Splice_Site_p.Q130_splice	NM_005827	NP_005818	P78383	S35B1_HUMAN	Homo sapiens solute carrier family 35, member B1 (SLC35B1), mRNA.	254						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGCACTCACCTGACCCAGGGC	0.547													C	47780551	T	C	47780551	3	2	111	1	0	0	0	0	1	0	0	0	14669	1594	55	3	219	3	SLC35B1	17	47780551	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	20399984	47780551	33414659	55	7414											
KCNH6	81033	broad.mit.edu	37	chr17	61613122	61613122	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctactctgagtatggggcGgctgtgctcttcttgctcat	4	14	12	11	2	4	1	1	1	3	0	4	1	4	1	0	3	3	5	0	3	2	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:61613122G>A	uc002jay.3	+	5	1274	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	KCNH6_uc002jax.1_Silent_p.A398A|KCNH6_uc010wpl.2_Silent_p.A275A|KCNH6_uc010wpm.2_Silent_p.A398A|KCNH6_uc002jaz.1_Silent_p.A398A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	398					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGTATGGGGCGGCTGTGCTCT	0.617													A	61613122	G	A	61613122	2	1	111	1	0	0	0	0	0	0	0	1	8094	1103	39	1		1	KCNH6	17	61613122	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	13832571	61613122	19582088	56	7415											
TMEM105	284186	broad.mit.edu	37	chr17	79287573	79287573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaagaaagccagactgccCccaggcaggcccttcatgtc	10	6	10	15	0	1	2	1	0	0	2	2	2	1	2	4	2	3	2	4	2	2	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr17:79287573C>T	uc002kad.2	-	2	818	c.268G>A	c.(268-270)Ggg>Agg	p.G90R		NM_178520	NP_848615	Q8N8V8	TM105_HUMAN	Homo sapiens transmembrane protein 105 (TMEM105), mRNA.	90						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			CCAGACTGCCCCCAGGCAGGC	0.662													T	79287573	C	T	79287573	3	4	111	1	0	0	0	0	1	0	0	0	16119	623	22	2	125	2	TMEM105	17	79287573	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	17674451	79287573	1907637	57	7416											
LAMA1	284217	broad.mit.edu	37	chr18	7010303	7010303	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accacctttgatgagaacttGaggctcaaaattggaggtgc	12	10	11	8	0	1	3	1	3	0	1	1	5	1	4	2	3	2	1	2	3	3	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr18:7010303G>C	uc002knm.3	-	25	3863	c.3769C>G	c.(3769-3771)Caa>Gaa	p.Q1257E	LAMA1_uc010wzj.2_Missense_Mutation_p.Q733E	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1257	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAGAACTTGAGGCTCAAAA	0.463													C	7010303	G	C	7010303	3	2	111	1	0	0	0	0	1	0	0	0	8664	1299	45	4	5610	4	LAMA1	18	7010303	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		7010303	71066945	58	7417											
MIDN	90007	broad.mit.edu	37	chr19	1250466	1250466	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacggtggaggggctgcgCaagcggttgtcccagcgcct	6	6	18	11	4	0	1	0	0	0	1	1	3	1	2	2	5	3	3	2	5	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:1250466C>G	uc002lrp.3	+	1	686	c.171C>G	c.(169-171)cgC>cgG	p.R57R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	57	Ubiquitin-like.					nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		AGGGGCTGCGCAAGCGGTTGT	0.736													G	1250466	C	G	1250466	2	3	111	1	0	0	0	0	0	0	0	1	9654	697	25	4		4	MIDN	19	1250466	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08		1250466	57878517	59	7418											
RAVER1	125950	broad.mit.edu	37	chr19	10444148	10444148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccagacttagggctcagCgggggccggtgagtaacgga	8	5	17	11	3	1	2	1	1	0	1	1	3	1	3	3	5	2	2	3	5	2	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:10444148C>T	uc002moa.3	-	0	167	c.87G>A	c.(85-87)ccG>ccA	p.P29P		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	12						cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			TAGGGCTCAGCGGGGGCCGGT	0.692													T	10444148	C	T	10444148	2	4	111	1	0	0	0	0	0	0	0	1	13182	755	27	1		1	RAVER1	19	10444148	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	9193682	10444148	48684835	60	7419											
USHBP1	83878	broad.mit.edu	37	chr19	17366376	17366376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggccccgcttctcacgccGcaccagctgcagccgaagca	8	5	10	18	4	1	0	1	0	1	0	2	1	1	0	5	1	4	5	5	1	2	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:17366376G>A	uc002nfs.1	-	9	1623	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	USHBP1_uc002nfr.1_Missense_Mutation_p.R130W|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.R440W	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	504							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTCTCACGCCGCACCAGCTGC	0.647													A	17366376	G	A	17366376	3	1	111	1	0	0	0	0	1	0	0	0	17139	1086	38	1	617	1	USHBP1	19	17366376	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	6922228	17366376	41762607	61	7420											
DUXA	503835	broad.mit.edu	37	chr19	57669765	57669766	+	Frame_Shift_Ins	INS	-	-	T																															aatcaatcccaggatatgggINStttttcataaatgccttgat																										TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr19:57669765_57669766insT	uc002qoa.1	-	3	413_414	c.368_369insA	c.(367-369)aacfs	p.N123fs		NM_001012729	NP_001012747	A6NLW8	DUXA_HUMAN	Homo sapiens double homeobox A (DUXA), mRNA.	123						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		CAGGATATGGGTTTTTCATAAA	0.47													T	57669766	-	T	57669765	7	5	111	1	0	1	1	0	0	0	0	0	4873	1252	44	0	257	0	DUXA	19	57669765	Frame_Shift_Ins	INS	-	TCGA-12-0615-01A-01D-1492-08	40303389	57669765	1459218	62	7421											
PROKR2	128674	broad.mit.edu	37	chr20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggggaagaagtcacgaaCgatggtgaaaccgtagaagg	15	5	16	5	3	1	3	1	1	0	2	1	6	1	4	1	4	2	1	1	4	6	1	rs139399061	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:5282952C>T	uc010zqw.2	-	1	897	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	297						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)			T	5282952	C	T	5282952	3	4	111	1	0	0	0	0	1	0	0	0	12639	536	19	1	268	1	PROKR2	20	5282952	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08		5282952	57742568	63	7422											
PCSK2	5126	broad.mit.edu	37	chr20	17389925	17389925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaatgccgaagcaagttaCgacttcagcagcaacgaccc	14	5	9	13	3	1	1	1	0	0	1	1	4	1	1	2	0	6	4	2	0	5	2	rs139215444	byFrequency	TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:17389925C>T	uc002wpm.3	+	5	915	c.561C>T	c.(559-561)taC>taT	p.Y187Y	PCSK2_uc002wpl.3_Silent_p.Y168Y|PCSK2_uc010zrm.2_Silent_p.Y152Y	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	187	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGCAAGTTACGACTTCAGCA	0.483													T	17389925	C	T	17389925	2	4	111	1	0	0	0	0	0	0	0	1	11677	547	19	1		1	PCSK2	20	17389925	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08	12106973	17389925	45635595	64	7423											
OPRL1	4987	broad.mit.edu	37	chr20	62729348	62729348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccttcaccctaactGccatgagtgtggatcgctat	9	10	8	14	1	1	1	1	1	0	0	2	2	1	2	4	1	3	2	4	1	2	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr20:62729348G>A	uc002yic.3	+	3	846	c.427G>A	c.(427-429)Gcc>Acc	p.A143T	OPRL1_uc002yid.3_Missense_Mutation_p.A143T|OPRL1_uc021wgs.1_Missense_Mutation_p.A143T|OPRL1_uc002yif.4_Missense_Mutation_p.A138T	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	143					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					CACCCTAACTGCCATGAGTGT	0.572													A	62729348	G	A	62729348	3	1	111	1	0	0	0	0	1	0	0	0	10962	1319	46	2	433	2	OPRL1	20	62729348	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	45339423	62729348	296172	65	7424											
TMPRSS15	5651	broad.mit.edu	37	chr21	19775931	19775931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagaagatatgcctcttttCgaccccatttttggttttga	8	17	7	9	1	1	3	0	1	1	2	2	4	1	3	3	1	1	1	3	1	3	8			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:19775931C>T	uc002ykw.3	-	0	40	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	3					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGCCTCTTTTCGACCCCATTT	0.353													T	19775931	C	T	19775931	2	4	111	1	0	0	0	0	0	0	0	1	16346	871	31	1		1	TMPRSS15	21	19775931	Silent	SNP	C	TCGA-12-0615-01A-01D-1492-08		19775931	28353964	66	7425											
CLDN17	26285	broad.mit.edu	37	chr21	31538845	31538845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacaaaagctgatactcTccactgaggcagaagggttg	13	7	11	10	0	1	3	0	2	1	1	2	3	1	3	2	2	3	3	2	2	5	2			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:31538845T>C	uc011acv.2	-	0	127	c.91A>G	c.(91-93)Aga>Gga	p.R31G		NM_012131	NP_036263	P56750	CLD17_HUMAN	Homo sapiens claudin 17 (CLDN17), mRNA.	31					calcium-independent cell-cell adhesion|tight junction assembly	Golgi apparatus|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						GCTGATACTCTCCACTGAGGC	0.507													C	31538845	T	C	31538845	3	2	111	1	0	0	0	0	1	0	0	0	3509	1559	54	3	587	3	CLDN17	21	31538845	Missense_Mutation	SNP	T	TCGA-12-0615-01A-01D-1492-08	11762914	31538845	16591050	67	7426											
MX2	4600	broad.mit.edu	37	chr21	42762561	42762561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggttccctgtaacGtggacattgccaccacggag	7	10	14	10	2	0	0	0	0	0	0	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr21:42762561G>C	uc002yzf.1	+	5	906	c.802G>C	c.(802-804)Gtg>Ctg	p.V268L	MX2_uc011aer.1_Intron|MX2_uc002yzg.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	268					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	p.V268M(2)		breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TCCCTGTAACGTGGACATTGC	0.557													C	42762561	G	C	42762561	3	2	111	1	0	0	0	0	1	0	0	0	10074	1145	40	4	820	4	MX2	21	42762561	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08	11223716	42762561	5367334	68	7427											
CELSR1	9620	broad.mit.edu	37	chr22	46930786	46930786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcggatgctgtcaccGccagcacgtactgctgctcc	5	9	11	16	4	1	0	1	0	0	0	3	1	2	1	4	1	6	5	4	1	1	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chr22:46930786G>A	uc003bhw.1	-	0	2282	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	761	Cadherin 5.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGCTGTCACCGCCAGCACGTA	0.602													A	46930786	G	A	46930786	3	1	111	1	0	0	0	0	1	0	0	0	3251	1087	38	1	6902	1	CELSR1	22	46930786	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		46930786	4373780	69	7428											
MXRA5	25878	broad.mit.edu	37	chrX	3228536	3228536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacaccaggctgggtgtcgGggtccccgcggcagagcagt	6	5	16	14	3	0	1	0	0	0	1	2	1	1	1	4	5	1	3	4	5	0	0			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:3228536G>T	uc004crg.4	-	6	7865	c.7708C>A	c.(7708-7710)Ccg>Acg	p.P2570T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2570	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGGTGTCGGGGTCCCCGCG	0.622													T	3228536	G	T	3228536	3	4	111	1	0	0	0	0	1	0	0	0	10079	1232	43	4	782	4	MXRA5	23	3228536	Missense_Mutation	SNP	G	TCGA-12-0615-01A-01D-1492-08		3228536	152042024	70	7429											
WWC3	55841	broad.mit.edu	37	chrX	10066544	10066544	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctcttctgttccggaaAgtttgtctttgatgataaaa	9	18	7	7	1	4	2	0	2	4	0	6	3	5	3	1	1	0	2	1	1	3	6			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:10066544A>T	uc004csx.4	+	8	856	c.658_splice	c.e8-2	p.F220_splice	WWC3_uc010nds.3_Splice_Site|WWC3_uc010ndt.3_Splice_Site	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	220										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TGTTCCGGAAAGTTTGTCTTT	0.348													T	10066544	A	T	10066544	5	4	111	1	0	0	0	0	0	0	1	0	17515	86	3	5	682	5	WWC3	23	10066544	Splice_Site	SNP	A	TCGA-12-0615-01A-01D-1492-08	6838008	10066544	145204016	71	7430											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29973596	29973596	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagggccttttggggagCtgcagactgtctcggccatt	7	10	14	10	1	1	1	0	0	1	1	2	2	1	2	2	4	3	3	2	4	1	3			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:29973596C>G	uc004dby.2	+	10	2258	c.1750C>G	c.(1750-1752)Ctg>Gtg	p.L584V		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	584	Interaction with NCS1.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTTTGGGGAGCTGCAGACTGT	0.507													G	29973596	C	G	29973596	3	3	111	1	0	0	0	0	1	0	0	0	7719	796	28	4	1788	4	IL1RAPL1	23	29973596	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	19907052	29973596	125296964	72	7431											
CXorf59	286464	broad.mit.edu	37	chrX	36103484	36103484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcgccaccccaaaagttttCcagacagaatgacttttcca	12	10	5	14	1	0	3	0	1	0	2	3	3	2	3	5	0	0	1	5	0	3	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:36103484C>T	uc004ddk.1	+	4	656	c.470C>T	c.(469-471)tCc>tTc	p.S157F		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	157						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						CAAAAGTTTTCCAGACAGAAT	0.328													T	36103484	C	T	36103484	3	4	111	1	0	0	0	0	1	0	0	0	4148	855	30	2	484	2	CXorf59	23	36103484	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	6129888	36103484	119167076	73	7432											
TEX13A	56157	broad.mit.edu	37	chrX	104463874	104463874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaaaggcctcccagtcGgaaggcagctgaggcggaac	11	5	14	11	2	1	1	1	1	0	0	3	3	2	3	2	5	2	3	2	5	4	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:104463874G>A	uc004ema.3	-	3	1108	c.996C>T	c.(994-996)tcC>tcT	p.S332S	IL1RAPL2_uc004elz.1_Intron|TEX13A_uc004emb.3_Missense_Mutation_p.P335L	NM_031274	NP_112564	Q9BXU3	TX13A_HUMAN	Homo sapiens testis expressed 13A (TEX13A), mRNA.	334						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						CCTCCCAGTCGGAAGGCAGCT	0.537													A	104463874	G	A	104463874	2	1	111	1	0	0	0	0	0	0	0	1	15876	1116	39	1		1	TEX13A	23	104463874	Silent	SNP	G	TCGA-12-0615-01A-01D-1492-08	68360390	104463874	50806686	74	7433											
ODZ1	10178	broad.mit.edu	37	chrX	123514489	123514489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacaaaatacccatcgtaaCcttgtacccgcccagtgctc	13	8	5	15	2	0	0	0	0	0	0	2	0	0	0	4	0	5	3	4	0	6	4			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:123514489C>A	uc010nqy.3	-	31	8160	c.8096G>T	c.(8095-8097)gGt>gTt	p.G2699V	ODZ1_uc011muj.2_Missense_Mutation_p.G2698V|ODZ1_uc004euj.3_Missense_Mutation_p.G2692V	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2692					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CCCATCGTAACCTTGTACCCG	0.463													A	123514489	C	A	123514489	3	1	111	1	0	0	0	0	1	0	0	0	10910	507	18	4	106	4	ODZ1	23	123514489	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	19050615	123514489	31756071	75	7434											
PDZD4	57595	broad.mit.edu	37	chrX	153069052	153069052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccgcttccgctgctcaCgggcccggatcaggtgctgc	3	7	14	17	6	2	0	2	0	0	0	3	1	3	1	3	3	3	4	3	3	0	1			TCGA-12-0615-01A-01D-1492-08	TCGA-12-0615-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6068793-51e4-4762-9150-cdfb030e8ade	c90ff476-f8e2-41b0-977d-fb36577427f4	g.chrX:153069052C>T	uc004fja.1	-	7	2334	c.2084G>A	c.(2083-2085)cGt>cAt	p.R695H	PDZD4_uc004fiy.1_Missense_Mutation_p.R614H|PDZD4_uc004fiz.1_Missense_Mutation_p.R689H|PDZD4_uc004fix.2_Missense_Mutation_p.R593H|PDZD4_uc011mze.1_Missense_Mutation_p.R580H|PDZD4_uc022chy.1_Missense_Mutation_p.R68H	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	689						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGCTGCTCACGGGCCCGGAT	0.647													T	153069052	C	T	153069052	3	4	111	1	0	0	0	0	1	0	0	0	11779	536	19	1	247	1	PDZD4	23	153069052	Missense_Mutation	SNP	C	TCGA-12-0615-01A-01D-1492-08	29554563	153069052	2201508	76	7435											
HSPG2	3339	broad.mit.edu	37	chr1	22186712	22186712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcacactggggttacccaCgtaacctgggccacacctgt	8	9	10	14	1	0	0	0	0	0	0	0	0	0	0	4	3	3	3	4	3	2	3	rs143523507		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:22186712C>T	uc009vqd.3	-	39	5015	c.4975G>A	c.(4975-4977)Gtg>Atg	p.V1659M	HSPG2_uc001bfj.3_Missense_Mutation_p.V1658M	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	1658	Laminin EGF-like 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGTTACCCACGTAACCTGGG	0.637													T	22186712	C	T	22186712	3	4	112	1	0	0	0	0	1	0	0	0	7488	536	19	1	8435	1	HSPG2	1	22186712	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08		22186712	227063909	1	7436											
C1orf130	400746	broad.mit.edu	37	chr1	24927454	24927454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagccattgttgctgccGttgtggtggttgtcatcatc	4	15	13	9	1	2	0	2	0	0	0	3	1	2	1	2	3	3	4	2	3	0	4	rs142867139	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:24927454G>A	uc001bjk.2	+	2	207	c.106G>A	c.(106-108)Gtt>Att	p.V36I		NM_001010980	NP_001010980	Q5T1S8	CA130_HUMAN	Homo sapiens chromosome 1 open reading frame 130 (C1orf130), mRNA.	36	Poly-Val.					integral to membrane				large_intestine(1)	1		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.0119)|all_lung(284;0.0154)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0439)|OV - Ovarian serous cystadenocarcinoma(117;1.48e-24)|Colorectal(126;6.93e-08)|COAD - Colon adenocarcinoma(152;3.69e-06)|GBM - Glioblastoma multiforme(114;0.00036)|BRCA - Breast invasive adenocarcinoma(304;0.00189)|KIRC - Kidney renal clear cell carcinoma(1967;0.00382)|STAD - Stomach adenocarcinoma(196;0.00521)|READ - Rectum adenocarcinoma(331;0.0659)|Lung(427;0.144)		TGTTGCTGCCGTTGTGGTGGT	0.552													A	24927454	G	A	24927454	3	1	112	1	0	0	0	0	1	0	0	0	2017	1145	40	1	112	1	C1orf130	1	24927454	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	2740742	24927454	224323167	2	7437											
TTC39A	22996	broad.mit.edu	37	chr1	51768762	51768762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtacacctaccgagcaCgaaggtgaggaaggtgtggt	10	7	14	10	2	0	1	0	1	0	0	0	4	0	2	3	4	3	2	3	4	4	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:51768762C>T	uc001csl.3	-	8	970	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	TTC39A_uc001csk.3_Missense_Mutation_p.V254M|TTC39A_uc010ond.2_Missense_Mutation_p.V226M|TTC39A_uc010one.2_Missense_Mutation_p.V253M|TTC39A_uc010onf.2_Missense_Mutation_p.V257M|TTC39A_uc001csn.3_Missense_Mutation_p.V288M|TTC39A_uc001cso.1_Missense_Mutation_p.V285M|TTC39A_uc009vyy.1_Missense_Mutation_p.V226M	NM_001080494	NP_001073963	Q5SRH9	TT39A_HUMAN	Homo sapiens tetratricopeptide repeat domain 39A (TTC39A), transcript variant 2, mRNA.	289							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						CTACCGAGCACGAAGGTGAGG	0.627													T	51768762	C	T	51768762	3	4	112	1	0	0	0	0	1	0	0	0	16809	536	19	1	1016	1	TTC39A	1	51768762	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	26841308	51768762	197481859	3	7438											
DMRTB1	63948	broad.mit.edu	37	chr1	53932300	53932300	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggtactgtcgggtgagCccagccagccatcgtctcag	8	7	13	13	2	1	2	1	1	1	1	4	2	1	2	3	2	4	1	3	2	1	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:53932300C>G	uc001cvq.1	+	3	1049	c.994C>G	c.(994-996)Ccc>Gcc	p.P332A		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	332					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GTCGGGTGAGCCCAGCCAGCC	0.552													G	53932300	C	G	53932300	3	3	112	1	0	0	0	0	1	0	0	0	4629	739	26	4	1008	4	DMRTB1	1	53932300	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	2163538	53932300	195318321	4	7439											
S100A7A	338324	broad.mit.edu	37	chr1	153391728	153391728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgctgggagacatagcCgcagactaccacaagcagag	12	6	11	12	1	0	3	0	0	0	3	1	4	1	3	3	1	4	3	3	1	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:153391728C>T	uc001fbt.1	+	2	306	c.249C>T	c.(247-249)gcC>gcT	p.A83A		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	83	EF-hand 2.					cytoplasm	calcium ion binding	p.A83A(4)		cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAGACATAGCCGCAGACTACC	0.522													T	153391728	C	T	153391728	2	4	112	1	0	0	0	0	0	0	0	1	13875	639	23	1		1	S100A7A	1	153391728	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	99459428	153391728	95858893	5	7440											
FDPS	2224	broad.mit.edu	37	chr1	155287783	155287783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggattcatcccttaccCgccggggacagatctgctgg	7	10	11	13	2	3	1	2	0	1	1	4	3	4	3	3	4	2	1	3	4	1	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:155287783C>T	uc001fkc.2	+	4	751	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	FDPS_uc021paw.1_Missense_Mutation_p.R112C|FDPS_uc001fkd.2_Missense_Mutation_p.R112C|FDPS_uc021pax.1_Missense_Mutation_p.R7C|FDPS_uc001fke.2_Missense_Mutation_p.R178C|RUSC1-AS1_uc001fkh.1_Non-coding_Transcript|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	178					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	ATCCCTTACCCGCCGGGGACA	0.512													T	155287783	C	T	155287783	3	4	112	1	0	0	0	0	1	0	0	0	5852	652	23	1	546	1	FDPS	1	155287783	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	1896055	155287783	93962838	6	7441											
ADCY10	55811	broad.mit.edu	37	chr1	167806486	167806486	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaatgatatatgcctctaCctgcgattttcaggaaaaaa	16	11	6	8	1	2	1	1	1	1	0	2	3	2	2	2	1	4	0	2	1	8	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:167806486C>T	uc001ger.3	-	22	3375	c.3077_splice	c.e22+1	p.S1026_splice	ADCY10_uc010plj.2_Splice_Site_p.S873_splice|ADCY10_uc009wvk.3_Splice_Site_p.S934_splice	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	1026					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding	p.?(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TATGCCTCTACCTGCGATTTT	0.348													T	167806486	C	T	167806486	5	4	112	1	0	0	0	0	0	0	1	0	293	521	18	2	1802	2	ADCY10	1	167806486	Splice_Site	SNP	C	TCGA-12-0616-01A-01D-1492-08	12518703	167806486	81444135	7	7442											
TMEM63A	9725	broad.mit.edu	37	chr1	226040425	226040425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgacagtgaagacacacaGcatccatgcatacatggctc	14	7	9	11	0	0	3	0	2	0	1	2	4	1	3	1	1	3	3	1	1	2	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr1:226040425G>A	uc001hpm.2	-	19	2465	c.1843C>T	c.(1843-1845)Ctg>Ttg	p.L615L		NM_014698	NP_055513	O94886	TM63A_HUMAN	Homo sapiens transmembrane protein 63A (TMEM63A), mRNA.	615						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					AAGACACACAGCATCCATGCA	0.552													A	226040425	G	A	226040425	2	1	112	1	0	0	0	0	0	0	0	1	16290	962	34	2		2	TMEM63A	1	226040425	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	58233939	226040425	23210196	8	7443											
VIT	5212	broad.mit.edu	37	chr2	37035618	37035618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctctgtcttctaggccGtgtgcagaacaaacggcttc	7	11	9	14	2	3	1	0	0	3	1	5	1	4	1	3	2	3	2	3	2	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:37035618G>A	uc002rpl.3	+	14	1695	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	VIT_uc002rpm.3_Missense_Mutation_p.V450M|VIT_uc010ezv.3_Missense_Mutation_p.V428M|VIT_uc010ezw.3_Missense_Mutation_p.V429M	NM_053276	NP_444506	Q6UXI7	VITRN_HUMAN	Homo sapiens vitrin (VIT), transcript variant 1, mRNA.	450	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTTCTAGGCCGTGTGCAGAAC	0.602													A	37035618	G	A	37035618	3	1	112	1	0	0	0	0	1	0	0	0	17273	1145	40	1	1572	1	VIT	2	37035618	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		37035618	206163755	9	7444											
NCKAP5	344148	broad.mit.edu	37	chr2	133541700	133541700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caatggcaggccttgaccgtGaccctggagtctgactcttg	7	10	12	12	1	2	3	0	3	2	0	2	4	2	4	3	3	0	1	3	3	1	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:133541700G>A	uc002ttp.3	-	13	3058	c.2684C>T	c.(2683-2685)tCa>tTa	p.S895L	NCKAP5_uc002ttq.3_Intron	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	895							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCTTGACCGTGACCCTGGAGT	0.607													A	133541700	G	A	133541700	3	1	112	1	0	0	0	0	1	0	0	0	10299	1294	45	2	3073	2	NCKAP5	2	133541700	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	96506082	133541700	109657673	10	7445											
NEB	4703	broad.mit.edu	37	chr2	152477436	152477436	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgatcagctcttacatcActggcaatatcccgagaggc	11	10	8	12	1	3	2	2	1	1	1	4	3	4	2	1	2	2	2	1	2	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:152477436A>G	uc021vrb.1	-	66	9857	c.9828T>C	c.(9826-9828)agT>agC	p.S3276S	NEB_uc002txu.3_Silent_p.S3519S|NEB_uc021vrc.1_Silent_p.S3519S|NEB_uc010fnx.3_Silent_p.S3264S|NEB_uc021vrd.1_Silent_p.S3276S	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3276					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTCTTACATCACTGGCAATAT	0.473													G	152477436	A	G	152477436	2	3	112	1	0	0	0	0	0	0	0	1	10378	156	6	3		3	NEB	2	152477436	Silent	SNP	A	TCGA-12-0616-01A-01D-1492-08	18935736	152477436	90721937	11	7446											
GAD1	2571	broad.mit.edu	37	chr2	171705817	171705817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctggggaggtgggctgCtcatgtccaggaagcaccgc	6	7	16	12	1	1	0	1	0	0	0	2	2	2	2	3	5	3	3	3	5	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr2:171705817C>T	uc002ugi.3	+	11	1563	c.1141C>T	c.(1141-1143)Ctc>Ttc	p.L381F	GAD1_uc010fqc.3_5'UTR	NM_000817	NP_000808	Q99259	DCE1_HUMAN	Homo sapiens glutamate decarboxylase 1 (brain, 67kDa) (GAD1), transcript variant GAD67, mRNA.	381					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGGTGGGCTGCTCATGTCCAG	0.532													T	171705817	C	T	171705817	3	4	112	1	0	0	0	0	1	0	0	0	6231	797	28	2	1224	2	GAD1	2	171705817	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	19228381	171705817	71493556	12	7447											
DNAH1	25981	broad.mit.edu	37	chr3	52409985	52409986	+	Frame_Shift_Ins	INS	-	-	A																															tctagatggactccttggagINSaaaaaagctaccgggagcgt																										TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:52409985_52409986insA	uc011bef.2	+	45	7435_7436	c.7174_7175insA	c.(7174-7176)gaafs	p.E2392fs		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	2392	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)		ACTCCTTGGAGAAAAAAGCTAC	0.609													A	52409986	-	A	52409985	7	5	112	1	0	1	1	0	0	0	0	0	4636	943	33	0	7352	0	DNAH1	3	52409985	Frame_Shift_Ins	INS	-	TCGA-12-0616-01A-01D-1492-08		52409985	145612445	13	7448											
CASR	846	broad.mit.edu	37	chr3	121980782	121980782	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccagcgaggcctgggcCagctcctccctgatcgccat	5	7	12	17	2	0	1	0	1	0	0	3	2	2	1	6	3	2	1	6	3	0	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr3:121980782C>T	uc003eew.4	+	3	1338	c.900C>T	c.(898-900)gcC>gcT	p.A300A	CASR_uc003eev.4_Silent_p.A300A	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	300					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	AGGCCTGGGCCAGCTCCTCCC	0.602													T	121980782	C	T	121980782	2	4	112	1	0	0	0	0	0	0	0	1	2708	581	21	2		2	CASR	3	121980782	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	69570797	121980782	76041648	14	7449											
FRYL	285527	broad.mit.edu	37	chr4	48559631	48559631	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgctgtggggagaggttTtaagtccaccagctcgatgt	7	12	13	9	1	0	1	0	0	0	1	2	3	1	1	3	3	2	3	3	3	1	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:48559631T>G	uc003gyh.1	-	33	4569	c.3964A>C	c.(3964-3966)Aaa>Caa	p.K1322Q	FRYL_uc003gyk.3_Missense_Mutation_p.K1322Q|FRYL_uc003gyg.1_Missense_Mutation_p.K18Q|FRYL_uc003gyi.1_Missense_Mutation_p.K211Q	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1322					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGGAGAGGTTTTAAGTCCACC	0.512													G	48559631	T	G	48559631	3	3	112	1	0	0	0	0	1	0	0	0	6116	1850	64	5	5201	5	FRYL	4	48559631	Missense_Mutation	SNP	T	TCGA-12-0616-01A-01D-1492-08		48559631	142594645	15	7450											
KIT	3815	broad.mit.edu	37	chr4	55592080	55592080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaactcatctgggccaccGtttggaaagctagtggttca	10	11	10	10	1	3	0	2	0	1	0	3	1	3	1	2	3	2	3	2	3	4	4			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr4:55592080G>A	uc010igr.3	+	8	1491	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	KIT_uc010igs.3_Silent_p.P468P|KIT_uc011bzw.1_5'Flank|KIT_uc010igt.2_5'Flank	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	468	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.(449_514)?(42)|p.P468P(2)|p.P468L(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGGCCACCGTTTGGAAAGC	0.453		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55592080	G	A	55592080	2	1	112	1	0	0	0	0	0	0	0	1	8387	1132	40	1		1	KIT	4	55592080	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	7032449	55592080	135562196	16	7451											
GPR98	84059	broad.mit.edu	37	chr5	90136528	90136528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtattggatgtcatcctaaCgccagagacaggatctttaa	12	12	9	8	1	2	1	1	0	1	1	3	4	3	3	2	2	1	1	2	2	3	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:90136528C>T	uc003kju.3	+	77	16841	c.16745C>T	c.(16744-16746)aCg>aTg	p.T5582M	GPR98_uc003kjt.3_Missense_Mutation_p.T3288M|GPR98_uc003kjw.3_Missense_Mutation_p.T1243M	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5582					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCATCCTAACGCCAGAGACA	0.423													T	90136528	C	T	90136528	3	4	112	1	0	0	0	0	1	0	0	0	6776	536	19	1	17055	1	GPR98	5	90136528	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08		90136528	90778732	17	7452											
OR2V2	285659	broad.mit.edu	37	chr5	180582407	180582407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgggcctttgggataatCgatggcttgatccagatggt	7	13	13	8	1	0	2	0	1	0	1	3	4	2	3	3	4	0	1	3	4	1	3	rs149585637	byFrequency	TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr5:180582407C>T	uc011dhj.2	+	0	465	c.465C>T	c.(463-465)atC>atT	p.I155I		NM_206880	NP_996763	Q96R30	OR2V2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily V, member 2 (OR2V2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGGGATAATCGATGGCTTGA	0.493													T	180582407	C	T	180582407	2	4	112	1	0	0	0	0	0	0	0	1	11107	874	31	1		1	OR2V2	5	180582407	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	90445879	180582407	332853	18	7453											
TNXB	7148	broad.mit.edu	37	chr6	32013041	32013041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcagcactcctaggcgggGctcttcaggaggctcagggg	6	7	17	11	1	4	0	3	0	1	0	5	1	5	1	1	8	1	3	1	8	1	2			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:32013041G>T	uc003nzl.2	-	31	10865	c.10663C>A	c.(10663-10665)Ccc>Acc	p.P3555T	TNXB_uc003nzg.1_5'UTR|TNXB_uc003nzh.1_Missense_Mutation_p.P24T	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3602	Fibronectin type-III 27.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCTAGGCGGGGCTCTTCAGGA	0.642													T	32013041	G	T	32013041	3	4	112	1	0	0	0	0	1	0	0	0	16446	1203	42	4	4102	4	TNXB	6	32013041	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		32013041	139102026	19	7454											
UTRN	7402	broad.mit.edu	37	chr6	145115044	145115044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgttacttcatgatgccAtccagatcccccggcagcta	8	10	8	15	1	1	2	1	1	0	1	3	2	3	2	5	1	3	3	5	1	2	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr6:145115044A>G	uc003qkt.3	+	61	9087	c.8995A>G	c.(8995-8997)Atc>Gtc	p.I2999V		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2999	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TCATGATGCCATCCAGATCCC	0.498													G	145115044	A	G	145115044	3	3	112	1	0	0	0	0	1	0	0	0	17205	217	8	3	9241	3	UTRN	6	145115044	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	113102003	145115044	26000023	20	7455											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	112	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		55233043	103905620	21	7456											
PHTF2	57157	broad.mit.edu	37	chr7	77552026	77552026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcattacgtcgtcatgtGgacaggacttctgaaggtgt	9	13	11	8	2	3	1	2	1	1	0	4	3	3	3	0	3	2	0	0	3	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:77552026G>A	uc003ugs.4	+	9	1176	c.1050G>A	c.(1048-1050)gtG>gtA	p.V350V	PHTF2_uc003ugo.4_Silent_p.V312V|PHTF2_uc003ugp.3_Silent_p.V312V|PHTF2_uc010ldv.3_Silent_p.V312V|PHTF2_uc003ugq.4_Silent_p.V312V|PHTF2_uc003ugr.4_Silent_p.V316V|PHTF2_uc003ugt.4_Silent_p.V316V|PHTF2_uc003ugu.4_Silent_p.V312V|PHTF2_uc022agp.1_Silent_p.V350V|PHTF2_uc003ugv.3_Silent_p.V175V|PHTF2_uc010ldw.2_Silent_p.V175V	NM_001127357	NP_001120829	Q8N3S3	PHTF2_HUMAN	Homo sapiens putative homeodomain transcription factor 2 (PHTF2), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GTCGTCATGTGGACAGGACTT	0.398													A	77552026	G	A	77552026	2	1	112	1	0	0	0	0	0	0	0	1	11940	1335	47	2		2	PHTF2	7	77552026	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	22318983	77552026	81586637	22	7457											
TRRAP	8295	broad.mit.edu	37	chr7	98522846	98522846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggccatgatgagcctggagGacaacaagcacgcactctac	12	6	11	12	1	1	2	0	2	1	0	1	4	1	4	2	3	4	2	2	3	3	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:98522846G>C	uc003upp.3	+	21	3144	c.2935G>C	c.(2935-2937)Gac>Cac	p.D979H	TRRAP_uc011kis.2_Missense_Mutation_p.D979H|TRRAP_uc003upr.3_Missense_Mutation_p.D671H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	979					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGCCTGGAGGACAACAAGCA	0.567													C	98522846	G	C	98522846	3	2	112	1	0	0	0	0	1	0	0	0	16702	1174	41	4	3017	4	TRRAP	7	98522846	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	20970820	98522846	60615817	23	7458											
PMPCB	9512	broad.mit.edu	37	chr7	102949403	102949403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttatcttaactagattcGtgtgagggatgacaagatgc	11	13	11	6	1	1	4	0	2	1	2	2	5	1	5	0	1	2	1	0	1	4	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:102949403G>A	uc003vbk.1	+	7	888	c.854G>A	c.(853-855)cGt>cAt	p.R285H	PMPCB_uc010liu.1_Missense_Mutation_p.R285H|PMPCB_uc003vbl.3_Missense_Mutation_p.R285H|PMPCB_uc011kll.1_Missense_Mutation_p.R180H|PMPCB_uc011klm.1_Missense_Mutation_p.R160H	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	285					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AACTAGATTCGTGTGAGGGAT	0.408													A	102949403	G	A	102949403	3	1	112	1	0	0	0	0	1	0	0	0	12218	1145	40	1	884	1	PMPCB	7	102949403	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	4426557	102949403	56189260	24	7459											
FLNC	2318	broad.mit.edu	37	chr7	128494166	128494166	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgcgaggtgcgggtggAggagtccacccaggtcggcg	8	4	19	10	5	0	0	0	0	0	0	2	3	1	2	2	6	2	0	2	6	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr7:128494166A>G	uc003vnz.4	+	39	6832	c.6623A>G	c.(6622-6624)gAg>gGg	p.E2208G	FLNC_uc003voa.4_Missense_Mutation_p.E2175G	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	2208	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTGCGGGTGGAGGAGTCCACC	0.687													G	128494166	A	G	128494166	3	3	112	1	0	0	0	0	1	0	0	0	5984	304	11	3	6781	3	FLNC	7	128494166	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	25544763	128494166	30644497	25	7460											
FRMD3	257019	broad.mit.edu	37	chr9	85958187	85958187	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtcccttttaatctgAaggtataaaaggtatctgca	15	13	7	6	0	2	1	0	1	2	0	3	1	3	1	1	2	1	3	1	2	8	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:85958187A>G	uc004ams.2	-	4	592	c.390T>C	c.(388-390)ctT>ctC	p.L130L	FRMD3_uc004amr.1_Silent_p.L130L|FRMD3_uc022bja.1_Silent_p.L86L	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	130	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						TTTTAATCTGAAGGTATAAAA	0.448													G	85958187	A	G	85958187	2	3	112	1	0	0	0	0	0	0	0	1	6102	233	9	3		3	FRMD3	9	85958187	Silent	SNP	A	TCGA-12-0616-01A-01D-1492-08		85958187	55255244	26	7461											
LAMC3	10319	broad.mit.edu	37	chr9	133942520	133942520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgcacaacaccacgggtGaccactgtgagcactgtcag	10	6	11	14	1	1	2	1	2	0	0	1	2	1	2	3	1	3	2	3	1	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:133942520G>A	uc004caa.1	+	13	2619	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	841	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CACCACGGGTGACCACTGTGA	0.642													A	133942520	G	A	133942520	3	1	112	1	0	0	0	0	1	0	0	0	8675	1290	45	2	2575	2	LAMC3	9	133942520	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	47984333	133942520	7270911	27	7462											
SURF4	6836	broad.mit.edu	37	chr9	136230531	136230531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggcgttgaaatatacGttgatggcaaagagccacac	15	7	11	8	2	0	4	0	2	0	2	0	4	0	4	1	2	2	3	1	2	5	4			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr9:136230531G>A	uc004cdj.3	-	5	778	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SURF4_uc011mda.2_Silent_p.N207N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N173N|SURF4_uc011mdc.2_Silent_p.N173N	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	216						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TGAAATATACGTTGATGGCAA	0.478													A	136230531	G	A	136230531	2	1	112	1	0	0	0	0	0	0	0	1	15501	1136	40	1		1	SURF4	9	136230531	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	2288011	136230531	4982900	28	7463											
OR52M1	119772	broad.mit.edu	37	chr11	4566682	4566682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacttctgggaatcttcTggttcggtgcttgtgacatt	7	15	10	9	1	3	1	0	1	3	0	4	2	3	2	1	3	2	2	1	3	2	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:4566682T>C	uc010qyf.2	+	0	262	c.262T>C	c.(262-264)Tgg>Cgg	p.W88R		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.W88*(1)		endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAATCTTCTGGTTCGGTGC	0.517													C	4566682	T	C	4566682	3	2	112	1	0	0	0	0	1	0	0	0	11202	1580	55	3	264	3	OR52M1	11	4566682	Missense_Mutation	SNP	T	TCGA-12-0616-01A-01D-1492-08		4566682	130439834	29	7464											
OR56A3	390083	broad.mit.edu	37	chr11	5968802	5968802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccctgctggacatcGtgctctgcctcactgtcatc	4	13	7	17	1	4	0	2	0	2	0	8	1	5	1	3	1	3	2	3	1	0	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:5968802G>A	uc010qzt.2	+	0	226	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001003443	NP_001003443	Q8NH54	O56A3_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily A, member 3 (OR56A3), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTGGACATCGTGCTCTGCCT	0.587													A	5968802	G	A	5968802	3	1	112	1	0	0	0	0	1	0	0	0	11210	1145	40	1	228	1	OR56A3	11	5968802	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	1402120	5968802	129037714	30	7465											
OR8H2	390151	broad.mit.edu	37	chr11	55872670	55872670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatgatattgataatccGcctggacctccagcttcaca	10	10	10	11	1	1	2	1	2	0	0	3	4	3	4	4	3	1	1	4	3	2	4			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:55872670G>A	uc010riy.2	+	0	152	c.152G>A	c.(151-153)cGc>cAc	p.R51H		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	51					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					TTGATAATCCGCCTGGACCTC	0.428										HNSCC(53;0.14)			A	55872670	G	A	55872670	3	1	112	1	0	0	0	0	1	0	0	0	11314	1087	38	1	154	1	OR8H2	11	55872670	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	49903868	55872670	79133846	31	7466											
SF3B2	10992	broad.mit.edu	37	chr11	65830517	65830517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgctggtggctggggcaAacctccagtggatgagactg	8	8	15	10	0	0	1	0	1	0	1	1	3	1	2	3	5	2	3	3	5	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:65830517A>G	uc001ogy.1	+	16	2055	c.2015A>G	c.(2014-2016)aAa>aGa	p.K672R		NM_006842	NP_006833	Q13435	SF3B2_HUMAN	Homo sapiens splicing factor 3b, subunit 2, 145kDa (SF3B2), mRNA.	672					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GGCTGGGGCAAACCTCCAGTG	0.498													G	65830517	A	G	65830517	3	3	112	1	0	0	0	0	1	0	0	0	14244	14	1	3	2081	3	SF3B2	11	65830517	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08	9957847	65830517	69175999	32	7467											
MMP12	4321	broad.mit.edu	37	chr11	102743841	102743841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataaaatttttctaagtatCtctggaaaaaaaaatacatt	19	14	3	5	0	2	0	0	0	2	0	3	1	2	1	0	1	1	1	0	1	9	7			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr11:102743841C>G	uc001phk.3	-	2	200	c.103_splice	c.e2-1	p.R35_splice		NM_002426	NP_002417	P39900	MMP12_HUMAN	Homo sapiens matrix metallopeptidase 12 (macrophage elastase) (MMP12), mRNA.	35					positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TTCTAAGTATCTCTGGAAAAA	0.328													G	102743841	C	G	102743841	3	3	112	1	0	0	0	0	1	0	0	0	9726	927	32	4	1343	4	MMP12	11	102743841	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	36913324	102743841	32262675	33	7468											
LPAR5	57121	broad.mit.edu	37	chr12	6729589	6729589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaccatcagcaccccgcGcacgcgatcgcgggcaggca	9	3	11	18	6	2	0	2	0	0	0	3	1	2	0	3	2	1	4	3	2	0	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:6729589G>A	uc009zer.2	-	1	1107	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C	LPAR5_uc001qps.2_Missense_Mutation_p.R276C|LPAR5_uc010sff.1_Missense_Mutation_p.R276C|LPAR5_uc021qub.1_Missense_Mutation_p.R276C	NM_001142961	NP_065133	Q9H1C0	LPAR5_HUMAN	Homo sapiens lysophosphatidic acid receptor 5 (LPAR5), transcript variant 2, mRNA.	276						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						AGCACCCCGCGCACGCGATCG	0.682													A	6729589	G	A	6729589	3	1	112	1	0	0	0	0	1	0	0	0	8978	1087	38	1	296	1	LPAR5	12	6729589	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		6729589	127122306	34	7469											
PDE3A	5139	broad.mit.edu	37	chr12	20807040	20807040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcctggaaaatgggtggaaGacagcgatgagtcaggagat	13	7	16	5	1	1	3	1	1	0	2	1	7	1	5	1	4	2	0	1	4	3	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:20807040G>A	uc001reh.2	+	14	3125	c.3085G>A	c.(3085-3087)Gac>Aac	p.D1029N	PDE3A_uc021qwa.1_Missense_Mutation_p.D707N	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	1029	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATGGGTGGAAGACAGCGATGA	0.478													A	20807040	G	A	20807040	3	1	112	1	0	0	0	0	1	0	0	0	11713	942	33	2	3143	2	PDE3A	12	20807040	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	14077451	20807040	113044855	35	7470											
KRT81	3887	broad.mit.edu	37	chr12	52685111	52685112	+	Frame_Shift_Ins	INS	-	-	G																															cctccgcacacgctgtggctINSgccgaagcccccggtgaggc																										TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:52685111_52685112insG	uc001sab.3	-	0	188_189	c.138_139insC	c.(136-141)ggcagcfs	p.G46fs	KRT86_uc010snq.2_Intron|KRT86_uc009zmg.3_Intron|KRT81_uc001sac.3_Intron	NM_002281	NP_002272	Q14533	KRT81_HUMAN	Homo sapiens keratin 81 (KRT81), mRNA.	46	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACGCTGTGGCTGCCGAAGCCCC	0.748													G	52685112	-	G	52685111	7	5	112	1	0	1	1	0	0	0	0	0	8553	1580	55	0	1414	0	KRT81	12	52685111	Frame_Shift_Ins	INS	-	TCGA-12-0616-01A-01D-1492-08	31878071	52685111	81166784	36	7471											
NOC4L	79050	broad.mit.edu	37	chr12	132635897	132635897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttccacctggctgacCtcttcctgtcctcctcgtga	3	14	7	17	1	2	2	0	2	2	0	7	2	6	2	6	1	0	2	6	1	0	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr12:132635897C>T	uc001ujz.1	+	10	1098	c.1057C>T	c.(1057-1059)Ctc>Ttc	p.L353F		NM_024078	NP_076983	Q9BVI4	NOC4L_HUMAN	Homo sapiens nucleolar complex associated 4 homolog (S. cerevisiae) (NOC4L), mRNA.	353					rRNA processing	integral to membrane|nuclear membrane|nucleolus	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(7)|skin(2)	14	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.2e-08)|Epithelial(86;3.34e-07)|all cancers(50;1.97e-05)		CCTGGCTGACCTCTTCCTGTC	0.652													T	132635897	C	T	132635897	3	4	112	1	0	0	0	0	1	0	0	0	10591	681	24	2	1099	2	NOC4L	12	132635897	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	79950786	132635897	1215998	37	7472											
PCCA	5095	broad.mit.edu	37	chr13	100809554	100809554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaaggtacatccaggttAtggattcctttcagaaaaca	13	13	7	8	0	2	1	1	0	1	1	4	2	4	2	2	3	2	2	2	3	5	6			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr13:100809554A>G	uc001voo.3	+	5	534	c.428A>G	c.(427-429)tAt>tGt	p.Y143C	PCCA_uc010aga.3_Missense_Mutation_p.Y117C|PCCA_uc010tiz.2_Missense_Mutation_p.Y143C	NM_000282	NP_000273	P05165	PCCA_HUMAN	Homo sapiens propionyl CoA carboxylase, alpha polypeptide (PCCA), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	143	Biotin carboxylation.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity	p.G142C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	CATCCAGGTTATGGATTCCTT	0.318													G	100809554	A	G	100809554	3	3	112	1	0	0	0	0	1	0	0	0	11580	449	16	3	450	3	PCCA	13	100809554	Missense_Mutation	SNP	A	TCGA-12-0616-01A-01D-1492-08		100809554	14360324	38	7473											
NPAS3	64067	broad.mit.edu	37	chr14	34270129	34270129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacgcccatggagatgctCtaccaccacgtgcaccggct	10	6	10	15	3	1	2	0	0	1	2	1	3	1	2	4	2	3	3	4	2	2	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr14:34270129C>T	uc001wru.3	+	11	2680	c.2616C>T	c.(2614-2616)ctC>ctT	p.L872L	NPAS3_uc001wrs.3_Silent_p.L859L|NPAS3_uc001wrv.3_Silent_p.L842L|NPAS3_uc001wrt.3_Silent_p.L840L	NM_001164749	NP_001158221	Q8IXF0	NPAS3_HUMAN	Homo sapiens neuronal PAS domain protein 3 (NPAS3), transcript variant 1, mRNA.	872					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		TGGAGATGCTCTACCACCACG	0.637													T	34270129	C	T	34270129	2	4	112	1	0	0	0	0	0	0	0	1	10640	900	32	2		2	NPAS3	14	34270129	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08		34270129	73079411	39	7474											
CACNG3	10368	broad.mit.edu	37	chr16	24366270	24366270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacaacgtcattctcagcGcgggcatcttttttgtctct	7	14	8	12	3	4	0	2	0	3	0	6	1	4	0	0	1	2	1	0	1	1	4			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr16:24366270G>A	uc002dmf.3	+	2	1614	c.412G>A	c.(412-414)Gcg>Acg	p.A138T		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	138					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	p.A138T(2)|p.A138V(2)		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)		CATTCTCAGCGCGGGCATCTT	0.572													A	24366270	G	A	24366270	3	1	112	1	0	0	0	0	1	0	0	0	2584	1087	38	1	422	1	CACNG3	16	24366270	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		24366270	65988483	40	7475											
GJC1	10052	broad.mit.edu	37	chr17	42882694	42882694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcccgaatccgtcgtcgGccatcatgcttaggtttggg	5	13	11	12	4	2	0	1	0	1	0	6	1	4	0	3	3	1	2	3	3	2	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:42882694G>A	uc002ihj.3	-	1	1003	c.492C>T	c.(490-492)ggC>ggT	p.G164G	GJC1_uc002ihk.3_Silent_p.G164G|GJC1_uc002ihl.3_Silent_p.G164G|GJC1_uc021tyf.1_Silent_p.G164G	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	164					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				TCCGTCGTCGGCCATCATGCT	0.468													A	42882694	G	A	42882694	2	1	112	1	0	0	0	0	0	0	0	1	6470	1190	42	2		2	GJC1	17	42882694	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08		42882694	38312516	41	7476											
DLX3	1747	broad.mit.edu	37	chr17	48072315	48072315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcagctaagggagctggaGatgtcggtgaggatgctgct	8	9	18	6	1	0	2	0	1	0	1	1	5	0	4	0	5	4	5	0	5	1	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:48072315G>A	uc002ipy.3	-	0	274	c.48C>T	c.(46-48)atC>atT	p.I16I		NM_005220	NP_005211	O60479	DLX3_HUMAN	Homo sapiens distal-less homeobox 3 (DLX3), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GGGAGCTGGAGATGTCGGTGA	0.642													A	48072315	G	A	48072315	2	1	112	1	0	0	0	0	0	0	0	1	4611	932	33	2		2	DLX3	17	48072315	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	5189621	48072315	33122895	42	7477											
ABCA6	23460	broad.mit.edu	37	chr17	67111007	67111007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattgaattgaggacagaCgccagttatctttctgattt	12	14	8	7	1	2	4	0	3	2	1	2	5	2	5	1	1	1	1	1	1	3	5			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr17:67111007C>T	uc002jhw.1	-	12	1853	c.1678G>A	c.(1678-1680)Gtc>Atc	p.V560I		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	560	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.G559D(1)		breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGAGGACAGACGCCAGTTATC	0.348													T	67111007	C	T	67111007	3	4	112	1	0	0	0	0	1	0	0	0	36	536	19	1	3283	1	ABCA6	17	67111007	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	19038692	67111007	14084203	43	7478											
TMEM161A	54929	broad.mit.edu	37	chr19	19243312	19243312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtactccaggaagaagcGcaggactgtggggggcactc	9	6	16	10	1	0	1	0	0	0	1	2	3	1	3	1	6	2	3	1	6	3	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:19243312G>A	uc002nlg.3	-	4	322	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	TMEM161A_uc002nli.3_Intron	NM_017814	NP_060284	Q9NX61	T161A_HUMAN	Homo sapiens transmembrane protein 161A (TMEM161A), mRNA.	98					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane		p.R98L(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			AGGAAGAAGCGCAGGACTGTG	0.582													A	19243312	G	A	19243312	3	1	112	1	0	0	0	0	1	0	0	0	16176	1087	38	1	1179	1	TMEM161A	19	19243312	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08		19243312	39885671	44	7479											
ZNF229	7772	broad.mit.edu	37	chr19	44934110	44934110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaaggtactcttggatgCgggggaaggtctgcatcgtc	8	11	14	8	2	3	0	1	0	2	0	5	2	3	2	0	5	3	2	0	5	3	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:44934110C>T	uc002oze.1	-	5	1280	c.846G>A	c.(844-846)ccG>ccA	p.P282P	ZNF229_uc010ejk.1_5'UTR|ZNF229_uc010ejl.1_Silent_p.P276P	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTTGGATGCGGGGGAAGGT	0.443													T	44934110	C	T	44934110	2	4	112	1	0	0	0	0	0	0	0	1	17883	755	27	1		1	ZNF229	19	44934110	Silent	SNP	C	TCGA-12-0616-01A-01D-1492-08	25690798	44934110	14194873	45	7480											
JOSD2	126119	broad.mit.edu	37	chr19	51009714	51009714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagacaccgtccacctggcGcagggccacccagtgccgcc	7	4	12	18	3	0	1	0	0	0	1	1	1	1	1	7	2	1	2	7	2	1	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr19:51009714G>A	uc002psn.1	-	3	419	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	JOSD2_uc002psp.1_Missense_Mutation_p.R130C|JOSD2_uc002pso.1_Missense_Mutation_p.R130C|JOSD2_uc002psq.1_Missense_Mutation_p.R88C	NM_138334	NP_612207	Q8TAC2	JOS2_HUMAN	Homo sapiens Josephin domain containing 2 (JOSD2), mRNA.	130	Josephin.				protein deubiquitination		ubiquitin-specific protease activity			kidney(1)|lung(3)|prostate(1)	5		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0364)		TCCACCTGGCGCAGGGCCACC	0.701													A	51009714	G	A	51009714	3	1	112	1	0	0	0	0	1	0	0	0	8017	1087	38	1	186	1	JOSD2	19	51009714	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	6075604	51009714	8119269	46	7481											
CELSR1	9620	broad.mit.edu	37	chr22	46793605	46793605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtagtcctcccaggcGtcgtggcagcggctattggg	5	9	15	12	3	0	0	0	0	0	0	3	0	2	0	2	4	2	4	2	4	2	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chr22:46793605G>A	uc003bhw.1	-	11	5667	c.5667C>T	c.(5665-5667)gaC>gaT	p.D1889D	CELSR1_uc011arc.1_Silent_p.D210D	NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1889	EGF-like 5; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CCTCCCAGGCGTCGTGGCAGC	0.617													A	46793605	G	A	46793605	2	1	112	1	0	0	0	0	0	0	0	1	3251	1136	40	1		1	CELSR1	22	46793605	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08		46793605	4510961	47	7482											
USP11	8237	broad.mit.edu	37	chrX	47104414	47104414	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctccctcacccccaGcccagccgtacattgctatc	7	8	4	22	1	2	0	1	0	1	0	4	0	2	0	7	0	4	2	7	0	2	3			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:47104414G>C	uc004dhp.3	+	16	2216	c.2216_splice	c.e16-1	p.A739_splice	USP11_uc004dhq.3_Splice_Site_p.A465_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567													C	47104414	G	C	47104414	5	2	112	1	0	0	0	0	0	0	1	0	17144	985	34	4	2277	4	USP11	23	47104414	Splice_Site	SNP	G	TCGA-12-0616-01A-01D-1492-08		47104414	108166146	48	7483											
HUWE1	10075	broad.mit.edu	37	chrX	53576344	53576344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagtactcggtgtagaCggctagtattgagctttggc	7	14	12	8	2	1	2	1	1	1	1	3	2	1	2	0	3	2	5	0	3	4	7			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:53576344C>T	uc004dsp.3	-	66	10013	c.9611G>A	c.(9610-9612)cGt>cAt	p.R3204H	HUWE1_uc004dsn.3_Missense_Mutation_p.R2012H	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3204					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCGGTGTAGACGGCTAGTATT	0.557													T	53576344	C	T	53576344	3	4	112	1	0	0	0	0	1	0	0	0	7519	536	19	1	3585	1	HUWE1	23	53576344	Missense_Mutation	SNP	C	TCGA-12-0616-01A-01D-1492-08	6471930	53576344	101694216	49	7484											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686329	125686329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccagttggcgctccGtcagcagctcgggcagcctc	5	7	12	17	3	1	0	1	0	0	0	5	0	3	0	4	2	4	6	4	2	0	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:125686329G>A	uc022cds.1	-	0	263	c.263C>T	c.(262-264)aCg>aTg	p.T88M	DCAF12L1_uc004eul.3_Missense_Mutation_p.T88M	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	88										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TTGGCGCTCCGTCAGCAGCTC	0.657													A	125686329	G	A	125686329	3	1	112	1	0	0	0	0	1	0	0	0	4298	1145	40	1	1132	1	DCAF12L1	23	125686329	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	72109985	125686329	29584231	50	7485											
MAGEC1	9947	broad.mit.edu	37	chrX	140995245	140995245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgagagtgctcctgagggGgaggattccctgtctcctct	5	11	13	12	0	2	2	0	2	2	1	5	5	4	4	4	3	1	1	4	3	0	1			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:140995245G>A	uc004fbt.3	+	3	2379	c.2055G>A	c.(2053-2055)ggG>ggA	p.G685G	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.G344G	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	685							protein binding	p.G685E(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTGAGGGGGAGGATTCCC	0.577										HNSCC(15;0.026)			A	140995245	G	A	140995245	2	1	112	1	0	0	0	0	0	0	0	1	9255	1219	43	2		2	MAGEC1	23	140995245	Silent	SNP	G	TCGA-12-0616-01A-01D-1492-08	15308916	140995245	14275315	51	7486											
HAUS7	55559	broad.mit.edu	37	chrX	152735936	152735936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaacacctccacagccGccctggacacgctgctgtcg	7	6	9	19	4	0	0	0	0	0	0	3	2	2	1	5	1	3	2	5	1	1	0			TCGA-12-0616-01A-01D-1492-08	TCGA-12-0616-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e2fed7-38bd-48d8-a786-ac574c9fa5be	a5090d08-0c69-4ced-be5a-4dd0b633885f	g.chrX:152735936G>A	uc004fhn.2	-	0	668	c.110C>T	c.(109-111)gCg>gTg	p.A37V	HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript|HAUS7_uc004fho.2_Missense_Mutation_p.A37V|HAUS7_uc004fhp.2_Non-coding_Transcript|HAUS7_uc011myq.1_Non-coding_Transcript	NM_017518	NP_059988	Q99871	HAUS7_HUMAN	Homo sapiens HAUS augmin-like complex, subunit 7 (HAUS7), mRNA.	37					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleolus|plasma membrane|spindle	thioesterase binding			endometrium(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)	19						CTCCACAGCCGCCCTGGACAC	0.726													A	152735936	G	A	152735936	3	1	112	1	0	0	0	0	1	0	0	0	7026	1087	38	1	1036	1	HAUS7	23	152735936	Missense_Mutation	SNP	G	TCGA-12-0616-01A-01D-1492-08	11740691	152735936	2534624	52	7487											
COL16A1	1307	broad.mit.edu	37	chr1	32164172	32164172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagtagtgtcagcaccaggGcaaactcctccgggagaccc	10	5	12	14	1	1	1	1	0	0	1	3	2	3	1	4	2	2	4	4	2	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:32164172G>A	uc001btk.1	-	4	667	c.302C>T	c.(301-303)gCc>gTc	p.A101V	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Missense_Mutation_p.A101V	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	101	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CAGCACCAGGGCAAACTCCTC	0.567													A	32164172	G	A	32164172	3	1	113	1	0	0	0	0	1	0	0	0	3704	1203	42	2	4780	2	COL16A1	1	32164172	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		32164172	217086449	1	7488											
KLF17	128209	broad.mit.edu	37	chr1	44595136	44595136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcactttcctcacagcGcagagatgctggggtcccct	7	10	10	14	1	2	1	2	0	0	1	4	2	4	1	3	2	3	3	3	2	0	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:44595136G>A	uc001clp.3	+	1	251	c.193G>A	c.(193-195)Gca>Aca	p.A65T	KLF17_uc009vxf.1_Missense_Mutation_p.A28T	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	65					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TCCTCACAGCGCAGAGATGCT	0.557													A	44595136	G	A	44595136	3	1	113	1	0	0	0	0	1	0	0	0	8403	1087	38	1	199	1	KLF17	1	44595136	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	12430964	44595136	204655485	2	7489											
FLG2	388698	broad.mit.edu	37	chr1	152324215	152324215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcctggaccctctctgtGtggactgtccatgaccagag	6	12	11	12	0	1	2	0	1	1	1	4	4	3	4	4	2	0	0	4	2	0	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:152324215G>A	uc001ezw.4	-	2	6120	c.6047C>T	c.(6046-6048)aCa>aTa	p.T2016I	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	2016							calcium ion binding|structural molecule activity	p.S2015T(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTCTGTGTGGACTGTCC	0.522													A	152324215	G	A	152324215	3	1	113	1	0	0	0	0	1	0	0	0	5972	1377	48	2	1132	2	FLG2	1	152324215	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	107729079	152324215	96926406	3	7490											
SPTA1	6708	broad.mit.edu	37	chr1	158585037	158585037	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttgctccaggttgtgttGcatccgcaacccaagctggt	6	12	11	12	1	0	0	0	0	0	0	2	0	2	0	3	2	4	7	3	2	2	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:158585037G>A	uc001fst.1	-	47	6956	c.6757C>T	c.(6757-6759)Caa>Taa	p.Q2253*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	2253					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGGTTGTGTTGCATCCGCAAC	0.537													A	158585037	G	A	158585037	4	1	113	1	0	0	0	0	0	1	0	0	15212	1328	46	2	522	2	SPTA1	1	158585037	Nonsense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	6260822	158585037	90665584	4	7491											
TNFSF4	7292	broad.mit.edu	37	chr1	173155865	173155865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctggtaatgaaggctaatGttgacttcctgggagaagta	11	13	12	5	0	1	3	0	2	1	1	2	4	2	3	1	3	0	4	1	3	5	6			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:173155865G>A	uc001giw.3	-	2	498	c.342C>T	c.(340-342)aaC>aaT	p.N114N	TNFSF4_uc001giv.3_Silent_p.N64N	NM_003326	NP_003317	P23510	TNFL4_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 4 (TNFSF4), mRNA.	114					acute inflammatory response|cellular response to lipopolysaccharide|cellular response to prostaglandin E stimulus|chemokine (C-C motif) ligand 11 production|defense response to nematode|interleukin-4-dependent isotype switching to IgE isotypes|memory T cell activation|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of regulatory T cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T-helper 1 cell differentiation|negative regulation of transcription, DNA-dependent|positive regulation of alpha-beta T cell proliferation|positive regulation of B cell activation|positive regulation of immunoglobulin mediated immune response|positive regulation of immunoglobulin secretion|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-13 production|positive regulation of interleukin-4 production|positive regulation of interleukin-6 production|positive regulation of memory T cell differentiation|positive regulation of T cell cytokine production|positive regulation of T-helper 2 cell differentiation|positive regulation of type 2 immune response|response to virus|signal transduction|T-helper 2 cell activation	cell surface|extracellular space|integral to plasma membrane	cytokine activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	12						GAAGGCTAATGTTGACTTCCT	0.468													A	173155865	G	A	173155865	2	1	113	1	0	0	0	0	0	0	0	1	16410	1368	48	2		2	TNFSF4	1	173155865	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	14570828	173155865	76094756	5	7492											
IGFN1	91156	broad.mit.edu	37	chr1	201191952	201191952	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtgtgcccgtctccttTgaagtgagtgtacctgcagg	5	13	13	10	2	1	2	0	2	1	0	3	2	1	2	3	1	3	3	3	1	2	3	rs146807711		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:201191952T>G	uc001gwc.3	+	19	10417	c.10287T>G	c.(10285-10287)ttT>ttG	p.F3429L	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCGTCTCCTTTGAAGTGAGTG	0.572											OREG0014073	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	201191952	T	G	201191952	3	3	113	1	0	0	0	0	1	0	0	0	7648	1809	63	5	10361	5	IGFN1	1	201191952	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	28036087	201191952	48058669	6	7493											
LIN9	286826	broad.mit.edu	37	chr1	226420896	226420896	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctccttctgctagacacTaaagggaaaaaaatttcaaa	16	10	5	10	0	2	1	1	0	1	1	4	2	4	2	2	1	1	1	2	1	7	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr1:226420896T>C	uc001hqa.2	-	14	1784	c.1474_splice	c.e14-1	p.C492_splice	LIN9_uc001hqb.2_Splice_Site_p.C457_splice|LIN9_uc001hqc.3_Splice_Site_p.C424_splice|LIN9_uc009xel.1_Intron	NM_173083	NP_775106	Q5TKA1	LIN9_HUMAN	Homo sapiens lin-9 homolog (C. elegans) (LIN9), mRNA.	476					cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TGCTAGACACTAAAGGGAAAA	0.294													C	226420896	T	C	226420896	5	2	113	1	0	0	0	0	0	0	1	0	8874	1536	53	3	212	3	LIN9	1	226420896	Splice_Site	SNP	T	TCGA-12-0618-01A-01D-1492-08	25228944	226420896	22829725	7	7494											
TRIB2	28951	broad.mit.edu	37	chr2	12858629	12858629	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtatcgggaaatacttaTtgttggaacctctggaggga	10	13	12	6	1	1	0	0	0	1	0	2	4	1	4	1	4	2	2	1	4	5	6	rs144421263	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:12858629T>C	uc002rbv.4	+	0	1632	c.196T>C	c.(196-198)Ttg>Ctg	p.L66L	TRIB2_uc010yjp.2_Intron	NM_021643	NP_067675	Q92519	TRIB2_HUMAN	Homo sapiens tribbles homolog 2 (Drosophila) (TRIB2), transcript variant 1, mRNA.	66	Protein kinase.				negative regulation of fat cell differentiation|negative regulation of interleukin-10 biosynthetic process|negative regulation of protein kinase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity	cytoplasm|cytoskeleton|nucleus	ATP binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(8)|lung(5)|prostate(1)|skin(1)|stomach(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GAAATACTTATTGTTGGAACC	0.577											OREG0014450	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	12858629	T	C	12858629	2	2	113	1	0	0	0	0	0	0	0	1	16584	1490	52	3		3	TRIB2	2	12858629	Silent	SNP	T	TCGA-12-0618-01A-01D-1492-08		12858629	230340744	8	7495											
IFT172	26160	broad.mit.edu	37	chr2	27682592	27682592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctggcttcgatgtagtGattaatggctgcatcaagct	10	13	10	8	1	1	1	1	1	0	0	2	2	1	1	1	2	3	5	1	2	4	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:27682592G>T	uc002rku.3	-	23	2677	c.2626C>A	c.(2626-2628)Cac>Aac	p.H876N		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	876					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					TCGATGTAGTGATTAATGGCT	0.522													T	27682592	G	T	27682592	3	4	113	1	0	0	0	0	1	0	0	0	7615	1290	45	4	2723	4	IFT172	2	27682592	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	14823963	27682592	215516781	9	7496											
PMS1	5378	broad.mit.edu	37	chr2	190728600	190728600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagcgcatggaatttggCccagaagcacaagttaaaaa	16	6	9	10	1	0	1	0	0	0	1	0	2	0	2	2	2	2	3	2	2	6	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:190728600C>T	uc002urh.4	+	9	2517	c.1988C>T	c.(1987-1989)gCc>gTc	p.A663V	PMS1_uc010zga.1_3'UTR|PMS1_uc010zgb.1_Missense_Mutation_p.A602V|PMS1_uc002urk.4_Missense_Mutation_p.A624V|PMS1_uc002uri.4_Intron|PMS1_uc010zgc.2_Missense_Mutation_p.A487V|PMS1_uc010zgd.2_Missense_Mutation_p.A487V|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Missense_Mutation_p.A624V|PMS1_uc010frz.3_Intron|PMS1_uc002url.3_Intron|PMS1_uc002urm.3_Non-coding_Transcript|PMS1_uc002urn.1_Missense_Mutation_p.A331V	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	663					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.A663V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			TGGAATTTGGCCCAGAAGCAC	0.363			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					T	190728600	C	T	190728600	3	4	113	1	0	0	0	0	1	0	0	0	12219	739	26	2	2022	2	PMS1	2	190728600	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	163046008	190728600	52470773	10	7497											
AOX1	316	broad.mit.edu	37	chr2	201523898	201523898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaattcaggtggtcagccGtgaattaagaatgccaatgt	14	11	10	6	1	2	2	2	1	0	1	2	2	2	2	2	2	2	0	2	2	6	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:201523898G>A	uc002uvx.3	+	27	3283	c.3182G>A	c.(3181-3183)cGt>cAt	p.R1061H	AOX1_uc010zhf.2_Missense_Mutation_p.R617H|AOX1_uc010fsu.3_Missense_Mutation_p.R427H	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	1061					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GTGGTCAGCCGTGAATTAAGA	0.453													A	201523898	G	A	201523898	3	1	113	1	0	0	0	0	1	0	0	0	731	1145	40	1	3292	1	AOX1	2	201523898	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	10795298	201523898	41675475	11	7498											
ABCA12	26154	broad.mit.edu	37	chr2	215843155	215843156	+	Frame_Shift_Ins	INS	-	-	T																															gctcaagactcatagcactaINStttttttgtgactctttggt																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:215843155_215843156insT	uc002vew.3	-	32	5232_5233	c.5012_5013insA	c.(5011-5013)aatfs	p.N1671fs	ABCA12_uc002vev.3_Frame_Shift_Ins_p.N1353fs|ABCA12_uc010zjn.2_Frame_Shift_Ins_p.N598fs	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1671					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TCATAGCACTATTTTTTTGTGA	0.376													T	215843156	-	T	215843155	7	5	113	1	0	1	1	0	0	0	0	0	30	446	16	0	2858	0	ABCA12	2	215843155	Frame_Shift_Ins	INS	-	TCGA-12-0618-01A-01D-1492-08	14319257	215843155	27356218	12	7499											
NEU2	4759	broad.mit.edu	37	chr2	233899564	233899564	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgcctacctcaacccgCgacctccagcccctgaggcc	6	6	10	19	2	1	1	1	1	0	0	2	2	2	1	8	2	4	0	8	2	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:233899564C>T	uc010zmn.2	+	1	940	c.940C>T	c.(940-942)Cga>Tga	p.R314*		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	314							exo-alpha-sialidase activity	p.P313P(1)		endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCTCAACCCGCGACCTCCAGC	0.692													T	233899564	C	T	233899564	4	4	113	1	0	0	0	0	0	1	0	0	10418	760	27	1	946	1	NEU2	2	233899564	Nonsense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	18056409	233899564	9299809	13	7500											
COL6A3	1293	broad.mit.edu	37	chr2	238280769	238280769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcagccgctgcaccgcGttctgcacttcatccttgct	4	11	9	17	3	3	0	2	0	1	0	4	0	4	0	4	1	4	5	4	1	0	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:238280769G>A	uc002vwl.2	-	8	4176	c.3891C>T	c.(3889-3891)aaC>aaT	p.N1297N	COL6A3_uc002vwo.2_Silent_p.N1091N|COL6A3_uc010znj.1_Silent_p.N690N|COL6A3_uc002vwq.3_Silent_p.N1091N|COL6A3_uc002vwr.3_Silent_p.N890N	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1297	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.N1297N(2)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGCACCGCGTTCTGCACTT	0.617													A	238280769	G	A	238280769	2	1	113	1	0	0	0	0	0	0	0	1	3732	1136	40	1		1	COL6A3	2	238280769	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	4381205	238280769	4918604	14	7501											
NEU4	129807	broad.mit.edu	37	chr2	242758284	242758284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagatttccttttgtacattCtccctgcgtgaggtcctgga	6	15	10	10	1	1	2	0	1	1	1	4	4	3	3	3	2	2	1	3	2	1	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr2:242758284C>G	uc002wcp.2	+	3	1898	c.1404C>G	c.(1402-1404)ttC>ttG	p.F468L	NEU4_uc010fzr.3_Missense_Mutation_p.F455L|NEU4_uc002wcm.3_Missense_Mutation_p.F455L|NEU4_uc002wco.2_Missense_Mutation_p.F455L|NEU4_uc002wcn.2_Missense_Mutation_p.F467L	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	455						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTTGTACATTCTCCCTGCGTG	0.642													G	242758284	C	G	242758284	3	3	113	1	0	0	0	0	1	0	0	0	10420	912	32	4	1418	4	NEU4	2	242758284	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	4477515	242758284	441089	15	7502											
ATP2B2	491	broad.mit.edu	37	chr3	10413708	10413708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggcatccaggtggcGtaccaggttgttgtccttca	7	11	11	12	1	2	0	2	0	0	0	4	0	4	0	3	4	1	4	3	4	1	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:10413708G>A	uc003bvt.3	-	11	1883	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ATP2B2_uc003bvv.3_Missense_Mutation_p.R437C|ATP2B2_uc003bvw.3_Missense_Mutation_p.R437C|ATP2B2_uc010hdo.3_Missense_Mutation_p.R187C	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	482					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						TCCAGGTGGCGTACCAGGTTG	0.587													A	10413708	G	A	10413708	3	1	113	1	0	0	0	0	1	0	0	0	1145	1145	40	1	2335	1	ATP2B2	3	10413708	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		10413708	187608722	16	7503											
RRP9	9136	broad.mit.edu	37	chr3	51969702	51969702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgggtgcctctgcggaatgCcagaccctaagggtgcatgg	7	8	16	10	1	1	1	0	0	1	1	1	2	1	2	3	4	4	1	3	4	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:51969702C>T	uc003dbw.1	-	8	781	c.742G>A	c.(742-744)Gca>Aca	p.A248T		NM_004704	NP_004695	O43818	U3IP2_HUMAN	Homo sapiens ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast) (RRP9), mRNA.	248					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		CTGCGGAATGCCAGACCCTAA	0.592													T	51969702	C	T	51969702	3	4	113	1	0	0	0	0	1	0	0	0	13782	739	26	2	713	2	RRP9	3	51969702	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	41555994	51969702	146052728	17	7504											
RETNLB	84666	broad.mit.edu	37	chr3	108474644	108474644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggtcaggtggcagcagCgggcagtggtccagtccacc	7	6	16	12	1	2	0	2	0	0	0	4	0	4	0	3	5	2	3	3	5	0	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:108474644C>T	uc003dxh.2	-	2	415	c.317G>A	c.(316-318)cGc>cAc	p.R106H		NM_032579	NP_115968	Q9BQ08	RETNB_HUMAN	Homo sapiens resistin like beta (RETNLB), mRNA.	106					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						GTGGCAGCAGCGGGCAGTGGT	0.552													T	108474644	C	T	108474644	3	4	113	1	0	0	0	0	1	0	0	0	13325	768	27	1	22	1	RETNLB	3	108474644	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	56504942	108474644	89547786	18	7505											
SEC62	7095	broad.mit.edu	37	chr3	169694809	169694809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggaagctttatttacaaCcagggagtctgtggttgact	11	12	12	6	0	1	2	0	1	1	1	1	4	1	4	1	3	3	2	1	3	4	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr3:169694809C>A	uc003fgg.3	+	2	252	c.221C>A	c.(220-222)aCc>aAc	p.T74N	SEC62_uc003fgh.3_Missense_Mutation_p.T74N	NM_003262	NP_003253	Q99442	SEC62_HUMAN	Homo sapiens SEC62 homolog (S. cerevisiae) (SEC62), mRNA.	74					cotranslational protein targeting to membrane|transmembrane transport	aggresome|endoplasmic reticulum membrane|integral to membrane|intermediate filament cytoskeleton|rough endoplasmic reticulum	protein transporter activity|receptor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	9						TTATTTACAACCAGGGAGTCT	0.348													A	169694809	C	A	169694809	3	1	113	1	0	0	0	0	1	0	0	0	14097	507	18	4	231	4	SEC62	3	169694809	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	61220165	169694809	28327621	19	7506											
DKK2	27123	broad.mit.edu	37	chr4	107846994	107846994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggcagcacatgccatctCggtggcagcgcttctttttt	5	13	12	11	2	2	0	0	0	2	0	3	0	2	0	1	4	3	4	1	4	0	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr4:107846994C>T	uc003hyi.3	-	1	1040	c.335G>A	c.(334-336)cGa>cAa	p.R112Q	DKK2_uc010ilw.1_Non-coding_Transcript|DKK2_uc003hyj.1_Missense_Mutation_p.R112Q	NM_014421	NP_055236	Q9UBU2	DKK2_HUMAN	Homo sapiens dickkopf 2 homolog (Xenopus laevis) (DKK2), mRNA.	112	DKK-type Cys-1.				multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space		p.R112*(1)|p.R112G(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATGCCATCTCGGTGGCAGCG	0.498													T	107846994	C	T	107846994	3	4	113	1	0	0	0	0	1	0	0	0	4584	884	31	1	456	1	DKK2	4	107846994	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		107846994	83307282	20	7507											
SH3RF2	153769	broad.mit.edu	37	chr5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccattctccttcagggCgccatatggtagagatcagc	8	11	11	11	1	3	1	2	0	1	1	5	2	4	1	3	3	1	1	3	3	2	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr5:145393517C>T	uc003lnt.3	+	4	1190	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	318							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R318C(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													T	145393517	C	T	145393517	3	4	113	1	0	0	0	0	1	0	0	0	14353	768	27	1	966	1	SH3RF2	5	145393517	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		145393517	35521743	21	7508											
OR14J1	442191	broad.mit.edu	37	chr6	29275286	29275286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggaccttgtattctccGtattctatactgtgatacct	7	17	7	10	1	2	1	0	1	2	0	3	2	2	2	3	1	2	2	3	1	5	8			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:29275286G>A	uc011dln.2	+	0	820	c.820G>A	c.(820-822)Gta>Ata	p.V274I		NM_030946	NP_112208	Q9UGF5	O14J1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily J, member 1 (OR14J1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TGTATTCTCCGTATTCTATAC	0.443													A	29275286	G	A	29275286	3	1	113	1	0	0	0	0	1	0	0	0	11024	1145	40	1	822	1	OR14J1	6	29275286	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		29275286	141839781	22	7509											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975995	32975995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaactggcccgaggcgccGtaagactggtagaaggcggg	9	5	18	9	4	0	3	0	1	0	2	0	4	0	3	2	5	1	2	2	5	4	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:32975995G>A	uc003ocr.3	-	1	202	c.126C>T	c.(124-126)taC>taT	p.Y42Y	HLA-DOA_uc010juj.3_Silent_p.Y12Y|HLA-DOA_uc010jui.3_Silent_p.Y42Y	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	42	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CCGAGGCGCCGTAAGACTGGT	0.542													A	32975995	G	A	32975995	2	1	113	1	0	0	0	0	0	0	0	1	7255	1140	40	1		1	HLA-DOA	6	32975995	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	3700709	32975995	138139072	23	7510											
CUL9	23113	broad.mit.edu	37	chr6	43163923	43163923	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagatcttcgccagcatCgactcagccacacgcccggg	10	5	11	15	4	2	2	1	0	1	2	4	4	2	2	3	1	2	1	3	1	0	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:43163923C>A	uc003ouk.3	+	9	2580	c.2505C>A	c.(2503-2505)atC>atA	p.I835I	CUL9_uc003oul.3_Silent_p.I835I|CUL9_uc010jyk.3_5'UTR	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	835					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TCGCCAGCATCGACTCAGCCA	0.567													A	43163923	C	A	43163923	2	1	113	1	0	0	0	0	0	0	0	1	4094	874	31	4		4	CUL9	6	43163923	Silent	SNP	C	TCGA-12-0618-01A-01D-1492-08	10187928	43163923	127951144	24	7511											
CRISP3	10321	broad.mit.edu	37	chr6	49696554	49696554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttactatagagatcttcGtacttgcaaccattggctgg	10	13	9	9	1	1	1	0	0	1	1	2	2	1	1	1	2	4	4	1	2	5	7			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:49696554G>A	uc021zai.1	-	7	784	c.696C>T	c.(694-696)taC>taT	p.Y232Y	CRISP3_uc003ozs.3_Silent_p.Y222Y	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	209					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			AGAGATCTTCGTACTTGCAAC	0.358													A	49696554	G	A	49696554	2	1	113	1	0	0	0	0	0	0	0	1	3912	1140	40	1		1	CRISP3	6	49696554	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	6532631	49696554	121418513	25	7512											
ARID1B	57492	broad.mit.edu	37	chr6	157522507	157522507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccacatcccaggtcacCgggccaccaccccaaccacc	9	3	6	23	1	1	0	1	0	0	0	3	0	3	0	10	2	1	0	10	2	1	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr6:157522507C>T	uc003qqp.3	+	16	4740	c.4740C>T	c.(4738-4740)acC>acT	p.T1580T	ARID1B_uc003qqo.3_Silent_p.T1593T|ARID1B_uc003qqn.3_Silent_p.T1633T	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1580	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CCCAGGTCACCGGGCCACCAC	0.547													T	157522507	C	T	157522507	2	4	113	1	0	0	0	0	0	0	0	1	917	639	23	1		1	ARID1B	6	157522507	Silent	SNP	C	TCGA-12-0618-01A-01D-1492-08	107825953	157522507	13592560	26	7513											
OSBPL3	26031	broad.mit.edu	37	chr7	24874215	24874215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctcgttcagctccaccgGcatggccaccttggacaggt	6	8	13	14	2	1	0	1	0	0	0	3	1	2	1	4	5	1	4	4	5	0	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:24874215G>A	uc003sxf.3	-	14	2041	c.1636C>T	c.(1636-1638)Ccg>Tcg	p.P546S	OSBPL3_uc003sxd.3_Non-coding_Transcript|OSBPL3_uc003sxe.3_Non-coding_Transcript|OSBPL3_uc003sxg.3_Missense_Mutation_p.P510S|OSBPL3_uc003sxh.3_Missense_Mutation_p.P515S|OSBPL3_uc003sxi.3_Missense_Mutation_p.P479S|OSBPL3_uc003sxj.1_Missense_Mutation_p.P275S|OSBPL3_uc003sxk.1_Missense_Mutation_p.P244S	NM_015550	NP_056365	Q9H4L5	OSBL3_HUMAN	Homo sapiens oxysterol binding protein-like 3 (OSBPL3), transcript variant 1, mRNA.	546					lipid transport		lipid binding|protein binding	p.P546P(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						AGCTCCACCGGCATGGCCACC	0.632													A	24874215	G	A	24874215	3	1	113	1	0	0	0	0	1	0	0	0	11355	1203	42	2	1063	2	OSBPL3	7	24874215	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		24874215	134264448	27	7514											
NSUN5	55695	broad.mit.edu	37	chr7	72721702	72721702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccaacagagccttccatCggcccccaccccctcgaaag	9	4	8	20	2	0	1	0	0	0	1	3	2	1	1	7	2	2	0	7	2	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:72721702C>T	uc003txw.3	-	2	346	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.R90Q|NSUN5_uc003txv.3_Missense_Mutation_p.R90Q|NSUN5_uc003txx.3_Intron	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	90							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				AGCCTTCCATCGGCCCCCACC	0.552													T	72721702	C	T	72721702	3	4	113	1	0	0	0	0	1	0	0	0	10757	884	31	1	1184	1	NSUN5	7	72721702	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	47847487	72721702	86416961	28	7515											
ABCB4	5244	broad.mit.edu	37	chr7	87079357	87079357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcctcttctgccacggCgcctgcttttgcataagcag	7	10	10	14	2	2	1	0	0	2	1	2	1	2	1	3	1	5	3	3	1	1	4	rs147998447	byFrequency	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:87079357C>T	uc003uiv.1	-	7	836	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	ABCB4_uc003uiw.1_Missense_Mutation_p.A254T|ABCB4_uc003uix.1_Missense_Mutation_p.A254T	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	254	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.A254A(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCTGCCACGGCGCCTGCTTTT	0.478													T	87079357	C	T	87079357	3	4	113	1	0	0	0	0	1	0	0	0	43	768	27	1	3184	1	ABCB4	7	87079357	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	14357655	87079357	72059306	29	7516											
ORAI2	80228	broad.mit.edu	37	chr7	102086975	102086975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggtggccatggtggagGtgcagctggagacgcagtac	8	6	18	9	2	0	1	0	0	0	1	0	3	0	2	1	6	3	5	1	6	1	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:102086975G>A	uc010lhz.1	+	3	476	c.241G>A	c.(241-243)Gtg>Atg	p.V81M	ORAI2_uc003uzj.2_Missense_Mutation_p.V81M|ORAI2_uc003uzk.2_Missense_Mutation_p.V81M|ORAI2_uc011kks.1_Missense_Mutation_p.V4M	NM_001126340	NP_116220	Q96SN7	ORAI2_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 2 (ORAI2), transcript variant 1, mRNA.	81						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						CATGGTGGAGGTGCAGCTGGA	0.677													A	102086975	G	A	102086975	3	1	113	1	0	0	0	0	1	0	0	0	11334	1261	44	2	247	2	ORAI2	7	102086975	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	15007618	102086975	57051688	30	7517											
SLC26A3	1811	broad.mit.edu	37	chr7	107431671	107431671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcatactcagaatcGgaaacggacctaattaacag	16	7	6	12	2	2	1	2	0	0	1	3	3	2	3	3	2	3	0	3	2	5	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:107431671G>A	uc003ver.2	-	4	603	c.392C>T	c.(391-393)cCg>cTg	p.P131L	SLC26A3_uc003ves.2_Missense_Mutation_p.P96L	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	131			P -> R (in DIAR1).		excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACTCAGAATCGGAAACGGACC	0.428													A	107431671	G	A	107431671	3	1	113	1	0	0	0	0	1	0	0	0	14612	1116	39	1	1970	1	SLC26A3	7	107431671	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	5344696	107431671	51706992	31	7518											
EZH2	2146	broad.mit.edu	37	chr7	148515006	148515009	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															tcatctttcttctcttcttcTtctttatcattgttctctcc																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr7:148515006_148515009delTTCT	uc003wfd.2	-	9	1378_1381	c.1185_1188delAGAA	c.(1183-1188)aaagaafs	p.K395fs	EZH2_uc022aov.1_Frame_Shift_Del_p.K356fs|EZH2_uc011kug.2_Frame_Shift_Del_p.K386fs|EZH2_uc003wfb.2_Frame_Shift_Del_p.K400fs|EZH2_uc003wfc.2_Frame_Shift_Del_p.K356fs|EZH2_uc011kuh.2_Frame_Shift_Del_p.K386fs|EZH2_uc011kui.2_Frame_Shift_Del_p.K395fs|EZH2_uc011kuj.2_Non-coding_Transcript	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	395					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.E401fs*22(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			TCTCTTCTTCTTCTTTATCATTGT	0.456			Mis		DLBCL								-	148515009	TTCT	-	148515006	7	5	113	1	0	1	0	1	0	0	0	0	5376	1606	56	0	1096	0	EZH2	7	148515006	Frame_Shift_Del	DEL	TTCT	TCGA-12-0618-01A-01D-1492-08	41083335	148515006	10623657	32	7519											
BMP1	649	broad.mit.edu	37	chr8	22069181	22069181	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgacaccatcaccaaaaaAggtttccacctgcgatacac	15	7	6	13	1	1	1	1	1	0	0	2	3	2	1	4	1	2	1	4	1	4	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:22069181A>G	uc003xbg.3	+	19	3167	c.2901A>G	c.(2899-2901)aaA>aaG	p.K967K	BMP1_uc011kzc.2_Silent_p.K716K|BMP1_uc003xbh.3_Non-coding_Transcript|BMP1_uc003xbi.3_Non-coding_Transcript	NM_006129	NP_006120	P13497	BMP1_HUMAN	Homo sapiens bone morphogenetic protein 1 (BMP1), transcript variant 3, mRNA.	967	CUB 5.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		TCACCAAAAAAGGTTTCCACC	0.577													G	22069181	A	G	22069181	2	3	113	1	0	0	0	0	0	0	0	1	1462	69	3	3		3	BMP1	8	22069181	Silent	SNP	A	TCGA-12-0618-01A-01D-1492-08		22069181	124294841	33	7520											
EYA1	2138	broad.mit.edu	37	chr8	72156896	72156896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatcatttcttccattCgcagtccaagggaaactgaa	14	11	7	9	1	2	2	1	2	1	0	5	3	4	3	2	1	1	1	2	1	5	3	rs145219836	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:72156896C>A	uc003xyu.3	-	11	1722	c.1082G>T	c.(1081-1083)cGa>cTa	p.R361L	EYA1_uc003xyt.4_Missense_Mutation_p.R328L|EYA1_uc003xyr.4_Intron|EYA1_uc010lzf.3_Missense_Mutation_p.R288L|EYA1_uc003xys.4_Missense_Mutation_p.R361L|EYA1_uc011lfe.2_Missense_Mutation_p.R355L|EYA1_uc003xyv.3_Missense_Mutation_p.R239L	NM_000503	NP_742055	Q99502	EYA1_HUMAN	Homo sapiens eyes absent homolog 1 (Drosophila) (EYA1), transcript variant 3, mRNA.	361					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.R361L(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTCTTCCATTCGCAGTCCAAG	0.323													A	72156896	C	A	72156896	3	1	113	1	0	0	0	0	1	0	0	0	5370	884	31	4	724	4	EYA1	8	72156896	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	50087715	72156896	74207126	34	7521											
DECR1	1666	broad.mit.edu	37	chr8	91031335	91031335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcaattcagtgtgatGtgagggatcctgatatggtt	9	15	12	5	0	2	3	2	3	0	0	3	4	3	4	1	2	1	2	1	2	2	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr8:91031335G>A	uc003yek.1	+	3	493	c.352G>A	c.(352-354)Gtg>Atg	p.V118M	DECR1_uc011lgc.1_Missense_Mutation_p.V109M|DECR1_uc011lgd.1_Non-coding_Transcript	NM_001359	NP_001350	Q16698	DECR_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 1, mitochondrial (DECR1), nuclear gene encoding mitochondrial protein, mRNA.	118					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TCAGTGTGATGTGAGGGATCC	0.363													A	91031335	G	A	91031335	3	1	113	1	0	0	0	0	1	0	0	0	4416	1377	48	2	366	2	DECR1	8	91031335	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	18874439	91031335	55332687	35	7522											
PRDM12	59335	broad.mit.edu	37	chr9	133543671	133543671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggaggtggtccagatcGgcaccagcatcttctacaag	10	8	11	12	1	2	1	0	0	2	1	4	2	3	2	3	4	2	2	3	4	2	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr9:133543671G>A	uc004bzt.1	+	2	601	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	181	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I180I(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGTCCAGATCGGCACCAGCAT	0.582													A	133543671	G	A	133543671	3	1	113	1	0	0	0	0	1	0	0	0	12539	1116	39	1	551	1	PRDM12	9	133543671	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		133543671	7669760	36	7523											
PTEN	5728	broad.mit.edu	37	chr10	89653779	89653780	+	Splice_Site	INS	-	-	AGAT																															tttccttaactaaagtactcINSagatatttatccaaacatta																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr10:89653779_89653780insAGAT	uc001kfb.3	+	2	1112	c.80_splice	c.e2-2	p.Y27_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(4)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAAAGTACTCAGATATTTATC	0.312		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			AGAT	89653780	-	AGAT	89653779	8	5	113	1	0	1	1	0	0	0	1	0	12823	841	29	0		0	PTEN	10	89653779	Splice_Site	INS	-	TCGA-12-0618-01A-01D-1492-08		89653779	45880968	37	7524											
HBG1	3048	broad.mit.edu	37	chr11	5275527	5275527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcctggactcaccttgaAgttctcaggatccacatgca	10	11	7	13	0	3	1	2	1	2	0	6	3	4	3	3	2	1	2	3	2	1	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:5275527A>G	uc001mai.1	-	1	747	c.310T>C	c.(310-312)Ttc>Ctc	p.F104L	HBG1_uc001mak.1_Non-coding_Transcript|HBG1_uc001maj.1_Missense_Mutation_p.F104L	NM_000559	NP_000550	P69891	HBG1_HUMAN	Homo sapiens hemoglobin, gamma A (HBG1), mRNA.	104					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding			large_intestine(1)|lung(3)|skin(1)	5		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCACCTTGAAGTTCTCAGGA	0.498													G	5275527	A	G	5275527	3	3	113	1	0	0	0	0	1	0	0	0	7037	72	3	3		3	HBG1	11	5275527	Missense_Mutation	SNP	A	TCGA-12-0618-01A-01D-1492-08		5275527	129730989	38	7525											
INCENP	3619	broad.mit.edu	37	chr11	61898063	61898063	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctggccgcatcatctGtgagtctgggggcttggcag	4	11	15	11	1	4	1	1	1	3	0	4	1	4	1	2	4	1	3	2	4	0	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:61898063G>A	uc001nsw.1	+	4	1265	c.1063_splice	c.e4+1	p.C355_splice	INCENP_uc009ynv.3_Splice_Site_p.C355_splice|INCENP_uc009ynw.1_Splice_Site_p.C355_splice|INCENP_uc001nsx.1_Splice_Site_p.C355_splice	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	355					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CGCATCATCTGTGAGTCTGGG	0.587													A	61898063	G	A	61898063	5	1	113	1	0	0	0	0	0	0	1	0	7791	1391	48	2	1074	2	INCENP	11	61898063	Splice_Site	SNP	G	TCGA-12-0618-01A-01D-1492-08	56622536	61898063	73108453	39	7526											
MYEOV	26579	broad.mit.edu	37	chr11	69063304	69063304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggcagaagacgtggaCgtgtcccgggccaggagggt	9	4	19	9	3	0	2	0	0	0	2	1	5	1	5	2	6	0	1	2	6	1	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr11:69063304C>A	uc001oov.3	+	2	837	c.387C>A	c.(385-387)gaC>gaA	p.D129E	MYEOV_uc001oox.3_Intron|MYEOV_uc009ysl.3_Missense_Mutation_p.D129E|MYEOV_uc001oow.3_Missense_Mutation_p.D71E	NM_138768	NP_620123	Q96EZ4	MYEOV_HUMAN	Homo sapiens myeloma overexpressed (in a subset of t(11;14) positive multiple myelomas) (MYEOV), mRNA.	129										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		AAGACGTGGACGTGTCCCGGG	0.617													A	69063304	C	A	69063304	3	1	113	1	0	0	0	0	1	0	0	0	10101	535	19	4	393	4	MYEOV	11	69063304	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	7165241	69063304	65943212	40	7527											
VWF	7450	broad.mit.edu	37	chr12	6127617	6127617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcctctcgggggagcGtctcaaagtcctggatgagg	8	7	16	10	2	2	1	1	1	2	0	5	4	3	4	2	5	2	0	2	5	1	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:6127617G>A	uc001qnn.1	-	27	5217	c.4967C>T	c.(4966-4968)aCg>aTg	p.T1656M	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1656	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGGAGCGTCTCAAAGTC	0.632													A	6127617	G	A	6127617	3	1	113	1	0	0	0	0	1	0	0	0	17348	1145	40	1	3574	1	VWF	12	6127617	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		6127617	127724278	41	7528											
MDM2	4193	broad.mit.edu	37	chr12	69229607	69229607	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatatttttttcttgttttAggatcttgatgctggtgtaa	8	22	8	3	0	2	1	0	1	2	0	2	2	2	2	0	2	1	3	0	2	4	10			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:69229607A>G	uc021rad.1	+	8	838	c.364_splice	c.e8-2	p.D122_splice	MDM2_uc001sui.3_Splice_Site_p.D229_splice|MDM2_uc009zqx.3_Splice_Site_p.D174_splice|MDM2_uc009zqy.1_Splice_Site_p.D218_splice|MDM2_uc021rae.1_Splice_Site_p.D218_splice|MDM2_uc001sun.4_Splice_Site_p.D48_splice|MDM2_uc009zra.3_Splice_Site_p.D48_splice|MDM2_uc021raf.1_Splice_Site|MDM2_uc009zrc.3_Intron|MDM2_uc009zrd.3_Splice_Site|MDM2_uc009zre.3_Intron|MDM2_uc001suo.3_Splice_Site_p.D23_splice|MDM2_uc009zrf.3_Intron|MDM2_uc009zrg.3_Intron|MDM2_uc009zrh.3_Splice_Site_p.D23_splice|MDM2_uc021rag.1_Splice_Site|MDM2_uc021rah.1_Splice_Site_p.D193_splice|MDM2_uc021rai.1_Splice_Site|MDM2_uc021raj.1_Intron			Q00987	MDM2_HUMAN	Homo sapiens Mdm2 p53 binding protein homolog (mouse) (MDM2), transcript variant MDM2, mRNA.	223					cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TTCTTGTTTTAGGATCTTGAT	0.398			A		"sarcoma, glioma, colorectal, other"								G	69229607	A	G	69229607	5	3	113	1	0	0	0	0	0	0	1	0	9488	434	15	3	717	3	MDM2	12	69229607	Splice_Site	SNP	A	TCGA-12-0618-01A-01D-1492-08	63101990	69229607	64622288	42	7529											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100491231	100491231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagatgtgaactttgggtgGcatctgcctctattcttatc	8	15	9	9	0	3	2	0	1	3	1	4	2	3	2	1	2	2	1	1	2	4	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:100491231G>A	uc001tgq.3	-	5	810	c.581C>T	c.(580-582)gCc>gTc	p.A194V	UHRF1BP1L_uc001tgr.3_Missense_Mutation_p.A194V	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	194										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTGGGTGGCATCTGCCTC	0.353													A	100491231	G	A	100491231	3	1	113	1	0	0	0	0	1	0	0	0	17071	1203	42	2	3901	2	UHRF1BP1L	12	100491231	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	31261624	100491231	33360664	43	7530											
OAS2	4939	broad.mit.edu	37	chr12	113447043	113447043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caataccaccttggaaagtgCcggtaaaagtcatctaaagg	15	8	9	9	1	2	0	1	0	1	0	2	1	2	1	3	3	2	1	3	3	7	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr12:113447043C>T	uc001tuj.3	+	9	2187	c.2047C>T	c.(2047-2049)Ccg>Tcg	p.P683S	OAS2_uc001tui.1_Missense_Mutation_p.P683S	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TTGGAAAGTGCCGGTAAAAGT	0.458													T	113447043	C	T	113447043	3	4	113	1	0	0	0	0	1	0	0	0	10876	739	26	2	2156	2	OAS2	12	113447043	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	12955812	113447043	20404852	44	7531											
KIAA0564	23078	broad.mit.edu	37	chr13	42481750	42481750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaaggctgtgcctgcaCggatctctcgtcgctgtttg	6	13	12	10	3	1	0	0	0	1	0	4	1	1	1	1	2	2	5	1	2	2	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:42481750C>T	uc001uyj.3	-	3	525	c.455G>A	c.(454-456)cGt>cAt	p.R152H	KIAA0564_uc001uyk.3_Missense_Mutation_p.R152H	NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	152						extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGTGCCTGCACGGATCTCTCG	0.458													T	42481750	C	T	42481750	3	4	113	1	0	0	0	0	1	0	0	0	8243	536	19	1	5434	1	KIAA0564	13	42481750	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		42481750	72688128	45	7532											
TRIM13	10206	broad.mit.edu	37	chr13	50587073	50587073	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtcattgtctttggtcctAccatgttcctagaatggtca	7	17	8	9	0	3	1	2	0	1	1	5	1	5	1	3	2	1	1	3	2	3	6			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:50587073A>T	uc001vdp.1	+	3	1424	c.1006A>T	c.(1006-1008)Acc>Tcc	p.T336S	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_5'Flank|KCNRG_uc001vdu.3_5'Flank|TRIM13_uc001vdq.1_Missense_Mutation_p.T333S|TRIM13_uc001vdr.1_Missense_Mutation_p.T333S|TRIM13_uc001vds.1_Missense_Mutation_p.T333S|TRIM13_uc021rjq.1_Missense_Mutation_p.T333S	NM_001007278	NP_998755	O60858	TRI13_HUMAN	Homo sapiens tripartite motif containing 13 (TRIM13), transcript variant 4, mRNA.	333					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CTTTGGTCCTACCATGTTCCT	0.408													T	50587073	A	T	50587073	3	4	113	1	0	0	0	0	1	0	0	0	16589	391	14	5	1012	5	TRIM13	13	50587073	Missense_Mutation	SNP	A	TCGA-12-0618-01A-01D-1492-08	8105323	50587073	64582805	46	7533											
SLITRK6	84189	broad.mit.edu	37	chr13	86369237	86369237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtaaaacttggaggagGttgttatttaaatacaggac	13	12	13	3	0	0	0	0	0	0	0	0	3	0	3	0	6	2	3	0	6	6	7			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr13:86369237G>T	uc001vll.1	-	1	1866	c.1407C>A	c.(1405-1407)aaC>aaA	p.N469K	SLITRK6_uc021rla.1_Missense_Mutation_p.N469K	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	469				N -> H (in Ref. 1).		integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTTGGAGGAGGTTGTTATTTA	0.328													T	86369237	G	T	86369237	3	4	113	1	0	0	0	0	1	0	0	0	14841	1252	44	4	1122	4	SLITRK6	13	86369237	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	35782164	86369237	28800641	47	7534											
SERPINA11	256394	broad.mit.edu	37	chr14	94912764	94912764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagggaggaccagcagcGccaaggcatttcctctgtat	9	8	13	11	1	2	0	1	0	1	0	3	2	3	2	3	4	2	3	3	4	2	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr14:94912764G>A	uc001ydd.1	-	2	881	c.821C>T	c.(820-822)gCg>gTg	p.A274V		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	274					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GACCAGCAGCGCCAAGGCATT	0.547													A	94912764	G	A	94912764	3	1	113	1	0	0	0	0	1	0	0	0	14181	1087	38	1	459	1	SERPINA11	14	94912764	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		94912764	12436776	48	7535											
GATM	2628	broad.mit.edu	37	chr15	45658329	45658329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatgcatgggattgggaTctttaaaggagatgatatgc	13	12	12	4	0	1	2	0	1	1	1	1	5	1	4	0	3	2	1	0	3	5	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr15:45658329T>C	uc001zvc.3	-	5	1222	c.893A>G	c.(892-894)gAt>gGt	p.D298G	GATM_uc001zvb.3_Missense_Mutation_p.D169G|GATM_uc010uev.1_Missense_Mutation_p.D351G	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	298					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GGGATTGGGATCTTTAAAGGA	0.428													C	45658329	T	C	45658329	3	2	113	1	0	0	0	0	1	0	0	0	6317	1435	50	3	394	3	GATM	15	45658329	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08		45658329	56873063	49	7536											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-																															tggaggtccctttggcttagCcaccaccaccaccacctcct																										TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr16:20370700_20370702delCCA	uc002dhc.1	-	11	1917_1919	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													-	20370702	CCA	-	20370700	7	5	113	1	0	1	0	1	0	0	0	0	11750	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-12-0618-01A-01D-1492-08		20370700	69984053	50	7537											
NUP88	4927	broad.mit.edu	37	chr17	5322843	5322843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaaggcaacgacgaagaaGctggtttctcagcttcggtt	11	9	12	9	4	1	1	1	0	1	1	3	4	1	1	0	3	3	5	0	3	4	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:5322843G>A	uc010vsx.2	-	0	217	c.128C>T	c.(127-129)gCt>gTt	p.A43V	NUP88_uc002gbo.2_Missense_Mutation_p.A43V|NUP88_uc010cle.2_Missense_Mutation_p.A43V|NUP88_uc010vsy.2_Missense_Mutation_p.A43V|RPAIN_uc010vsz.1_5'Flank|RPAIN_uc002gbp.1_5'Flank|RPAIN_uc010vta.1_5'Flank|RPAIN_uc002gbq.2_5'Flank|RPAIN_uc010vtb.1_5'Flank|RPAIN_uc002gbs.2_5'Flank|RPAIN_uc002gbt.2_5'Flank|RPAIN_uc002gbu.2_5'Flank|RPAIN_uc002gbv.2_5'Flank|RPAIN_uc002gbr.2_5'Flank|RPAIN_uc002gbw.2_5'Flank	NM_002532	NP_002523	Q99567	NUP88_HUMAN	Homo sapiens nucleoporin 88kDa (NUP88), mRNA.	43					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						CGACGAAGAAGCTGGTTTCTC	0.602													A	5322843	G	A	5322843	3	1	113	1	0	0	0	0	1	0	0	0	10847	971	34	2	2165	2	NUP88	17	5322843	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		5322843	75872367	51	7538											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			T	7577568	C	T	7577568	3	4	113	1	0	0	0	0	1	0	0	0	16482	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	2254725	7577568	73617642	52	7539											
ZCCHC2	54877	broad.mit.edu	37	chr18	60243794	60243794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccccccttctaatgatacGttggattctgcagactgaaa	10	12	7	12	1	2	3	0	2	2	1	3	4	3	4	3	1	2	2	3	1	3	5			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr18:60243794G>A	uc002lip.4	+	13	3519	c.3519G>A	c.(3517-3519)acG>acA	p.T1173T	ZCCHC2_uc002lio.2_Non-coding_Transcript|ZCCHC2_uc002liq.3_Silent_p.T643T	NM_017742	NP_060212	Q9C0B9	ZCHC2_HUMAN	Homo sapiens zinc finger, CCHC domain containing 2 (ZCCHC2), mRNA.	1173					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						CTAATGATACGTTGGATTCTG	0.468													A	60243794	G	A	60243794	2	1	113	1	0	0	0	0	0	0	0	1	17688	1132	40	1		1	ZCCHC2	18	60243794	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08		60243794	17833454	53	7540											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531967	7531967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctccgcagcttgtccagcGgatccagacactgtcccagc	7	8	9	17	2	1	1	0	0	1	1	5	2	4	2	4	1	3	2	4	1	0	1	rs150543189		TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:7531967G>A	uc002mgi.3	+	14	2661	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q	ARHGEF18_uc010xjm.1_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgh.3_Missense_Mutation_p.R645Q|ARHGEF18_uc002mgj.1_Missense_Mutation_p.R446Q	NM_001130955	NP_056133	Q6ZSZ5	ARHGI_HUMAN	Homo sapiens Rho/Rac guanine nucleotide exchange factor (GEF) 18 (ARHGEF18), transcript variant 2, mRNA.	803					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				CTTGTCCAGCGGATCCAGACA	0.672													A	7531967	G	A	7531967	3	1	113	1	0	0	0	0	1	0	0	0	904	1116	39	1	2466	1	ARHGEF18	19	7531967	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08		7531967	51597016	54	7541											
ZNF492	57615	broad.mit.edu	37	chr19	22846654	22846654	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaagcagggcaaaaaaaaTtatttccaaaaagtgatact	20	8	6	7	0	0	1	0	1	0	0	1	1	1	1	2	1	2	2	2	1	9	3			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:22846654T>A	uc002nqw.3	+	3	427	c.183T>A	c.(181-183)aaT>aaA	p.N61K		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.N61K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GCAAAAAAAATTATTTCCAAA	0.318													A	22846654	T	A	22846654	3	1	113	1	0	0	0	0	1	0	0	0	18044	1490	52	5	193	5	ZNF492	19	22846654	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	15314687	22846654	36282329	55	7542											
MAG	4099	broad.mit.edu	37	chr19	35801013	35801013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccgcgtcatctgcaccGcgaggaacctctatggcgcc	6	6	11	18	6	3	0	1	0	2	0	3	2	3	1	5	2	2	1	5	2	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:35801013G>A	uc002nyy.2	+	7	1666	c.1468G>A	c.(1468-1470)Gcg>Acg	p.A490T	MAG_uc002nyx.2_Missense_Mutation_p.A490T|MAG_uc010eds.2_Missense_Mutation_p.A465T|MAG_uc002nyz.2_Missense_Mutation_p.A490T	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	490	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CATCTGCACCGCGAGGAACCT	0.706													A	35801013	G	A	35801013	3	1	113	1	0	0	0	0	1	0	0	0	9233	1087	38	1	1490	1	MAG	19	35801013	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	12954359	35801013	23327970	56	7543											
CYP2B6	1555	broad.mit.edu	37	chr19	41512932	41512932	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagatgctgaacttgttcTaccagactttttcactcatc	10	15	6	10	0	3	4	2	2	1	2	4	4	3	4	1	0	3	2	1	0	3	5	rs140578107	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:41512932T>C	uc002opr.1	+	3	614	c.607T>C	c.(607-609)Tac>Cac	p.Y203H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	203					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.F202L(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAACTTGTTCTACCAGACTTT	0.512													C	41512932	T	C	41512932	3	2	113	1	0	0	0	0	1	0	0	0	4197	1522	53	3	621	3	CYP2B6	19	41512932	Missense_Mutation	SNP	T	TCGA-12-0618-01A-01D-1492-08	5711919	41512932	17616051	57	7544											
TULP2	7288	broad.mit.edu	37	chr19	49398651	49398651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgcggtgtcgggaggccGcgctcgcccctgccgtctcc	1	7	15	18	7	1	0	0	0	1	0	5	1	2	1	6	3	1	1	6	3	0	0			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr19:49398651G>A	uc002pkz.2	-	4	472	c.321C>T	c.(319-321)cgC>cgT	p.R107R		NM_003323	NP_003314	O00295	TULP2_HUMAN	Homo sapiens tubby like protein 2 (TULP2), mRNA.	107					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		TCGGGAGGCCGCGCTCGCCCC	0.632													A	49398651	G	A	49398651	2	1	113	1	0	0	0	0	0	0	0	1	16876	1074	38	1		1	TULP2	19	49398651	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08	7885719	49398651	9730332	58	7545											
RPN2	6185	broad.mit.edu	37	chr20	35865068	35865068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcctgggcagtgtgacGtttctggctggcaatcggat	6	11	14	10	2	1	1	0	1	1	0	3	2	2	2	2	4	0	4	2	4	1	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:35865068G>A	uc002xgp.3	+	15	2143	c.1839G>A	c.(1837-1839)acG>acA	p.T613T	RPN2_uc002xgq.3_Silent_p.T581T	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	613					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				GCAGTGTGACGTTTCTGGCTG	0.532													A	35865068	G	A	35865068	2	1	113	1	0	0	0	0	0	0	0	1	13699	1132	40	1		1	RPN2	20	35865068	Silent	SNP	G	TCGA-12-0618-01A-01D-1492-08		35865068	27160452	59	7546											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	8	7	11	15	4	0	1	0	1	0	0	2	3	1	1	4	1	3	1	4	1	2	2	rs141167641	by1000genomes	TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													A	51870661	G	A	51870661	3	1	113	1	0	0	0	0	1	0	0	0	16725	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-12-0618-01A-01D-1492-08	16005593	51870661	11154859	60	7547											
INPP5J	27124	broad.mit.edu	37	chr22	31524557	31524557	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggaagagccaccgactcCaggtgacgcagcacagctac	12	3	12	14	3	0	2	0	1	0	1	1	5	1	3	3	2	4	3	3	2	2	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:31524557C>T	uc003aju.4	+	8	2202	c.2110C>T	c.(2110-2112)Cag>Tag	p.Q704*	INPP5J_uc003ajw.3_Nonsense_Mutation_p.Q140*|INPP5J_uc003ajt.4_Nonsense_Mutation_p.Q336*|INPP5J_uc003ajv.4_Nonsense_Mutation_p.Q337*|INPP5J_uc003ajs.4_Nonsense_Mutation_p.Q337*|INPP5J_uc011alk.2_Nonsense_Mutation_p.Q637*|INPP5J_uc010gwg.3_Nonsense_Mutation_p.Q269*	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	704	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						CCACCGACTCCAGGTGACGCA	0.602													T	31524557	C	T	31524557	4	4	113	1	0	0	0	0	0	1	0	0	7817	595	21	2	1040	2	INPP5J	22	31524557	Nonsense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08		31524557	19780009	61	7548											
PHF5A	84844	broad.mit.edu	37	chr22	41863525	41863525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctccacagatcacacagCgcccctggtaagatccatag	11	7	8	15	1	1	2	1	0	0	2	4	2	4	2	5	1	1	1	5	1	2	2			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:41863525C>T	uc003bab.3	-	2	221	c.170G>A	c.(169-171)cGc>cAc	p.R57H	ACO2_uc003bac.3_5'Flank	NM_032758	NP_116147	Q7RTV0	PHF5A_HUMAN	Homo sapiens PHD finger protein 5A (PHF5A), mRNA.	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						GATCACACAGCGCCCCTGGTA	0.502													T	41863525	C	T	41863525	3	4	113	1	0	0	0	0	1	0	0	0	11914	768	27	1	170	1	PHF5A	22	41863525	Missense_Mutation	SNP	C	TCGA-12-0618-01A-01D-1492-08	10338968	41863525	9441041	62	7549											
NAGA	4668	broad.mit.edu	37	chr22	42456400	42456400	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccactgatgatgtcaccTgagtagacgtcctgggcctg	8	9	13	11	1	1	4	1	3	0	1	2	4	2	4	4	2	0	1	4	2	1	1			TCGA-12-0618-01A-01D-1492-08	TCGA-12-0618-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	390fc5e9-787e-4a3f-86c8-e3e0e7e43824	f4a5c29a-142f-416b-904b-bd0eb9c9b514	g.chr22:42456400T>G	uc003bbw.4	-	8	1664	c.1119A>C	c.(1117-1119)tcA>tcC	p.S373S		NM_000262	NP_000253	P17050	NAGAB_HUMAN	Homo sapiens N-acetylgalactosaminidase, alpha- (NAGA), mRNA.	373					glycoside catabolic process|glycosylceramide catabolic process|oligosaccharide metabolic process	lysosome	alpha-galactosidase activity|alpha-N-acetylgalactosaminidase activity|cation binding|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TGATGTCACCTGAGTAGACGT	0.557													G	42456400	T	G	42456400	2	3	113	1	0	0	0	0	0	0	0	1	10217	1567	55	5		5	NAGA	22	42456400	Silent	SNP	T	TCGA-12-0618-01A-01D-1492-08	592875	42456400	8848166	63	7550											
PTPRU	10076	broad.mit.edu	37	chr1	29602053	29602053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgggctacaacgtgacgcGttgccacacctatactgtgt	9	10	10	12	3	0	1	0	1	0	0	0	1	0	1	2	1	4	2	2	1	4	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:29602053G>A	uc001bru.3	+	7	1367	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	PTPRU_uc009vtq.3_Missense_Mutation_p.R413H|PTPRU_uc009vtr.3_Missense_Mutation_p.R413H|PTPRU_uc001brw.3_Missense_Mutation_p.R413H	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	413	Fibronectin type-III 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AACGTGACGCGTTGCCACACC	0.592													A	29602053	G	A	29602053	3	1	114	1	0	0	0	0	1	0	0	0	12901	1145	40	1	1268	1	PTPRU	1	29602053	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		29602053	219648568	1	7551											
CYP4B1	1580	broad.mit.edu	37	chr1	47282838	47282838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacctttgtggatggcCggtctctacctgcaggtggg	4	12	14	11	1	2	0	1	0	1	0	3	1	2	1	3	5	2	1	3	5	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:47282838C>T	uc001cqn.4	+	8	1276	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	CYP4B1_uc001cqm.4_Missense_Mutation_p.R397W|CYP4B1_uc009vym.3_Missense_Mutation_p.R383W|CYP4B1_uc010omk.2_Missense_Mutation_p.R234W	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	397					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TGTGGATGGCCGGTCTCTACC	0.567													T	47282838	C	T	47282838	3	4	114	1	0	0	0	0	1	0	0	0	4218	643	23	1	1226	1	CYP4B1	1	47282838	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	17680785	47282838	201967783	2	7552											
LYST	1130	broad.mit.edu	37	chr1	235860518	235860518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaggtactggagcacTgggggaacccacgtattccc	10	6	12	13	1	0	0	0	0	0	0	1	3	1	2	3	4	3	3	3	4	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:235860518T>C	uc001hxj.2	-	45	10604	c.10429A>G	c.(10429-10431)Agt>Ggt	p.S3477G	LYST_uc001hxi.2_Missense_Mutation_p.S701G	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3477					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ACTGGAGCACTGGGGGAACCC	0.473													C	235860518	T	C	235860518	3	2	114	1	0	0	0	0	1	0	0	0	9199	1580	55	3	1008	3	LYST	1	235860518	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08	188577680	235860518	13390103	3	7553											
RYR2	6262	broad.mit.edu	37	chr1	237890471	237890471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgttgtagcctgcttcCggatggcccccttatataat	6	13	11	11	1	0	0	0	0	0	0	1	1	1	1	4	3	2	4	4	3	4	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr1:237890471C>T	uc001hyl.1	+	75	10930	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	RYR2_uc010pya.2_5'UTR|RYR2_uc021pkz.1_Non-coding_Transcript	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3604					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCCTGCTTCCGGATGGCCCC	0.403													T	237890471	C	T	237890471	3	4	114	1	0	0	0	0	1	0	0	0	13860	643	23	1	11112	1	RYR2	1	237890471	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	2029953	237890471	11360150	4	7554											
MCM6	4175	broad.mit.edu	37	chr2	136630288	136630288	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatagaactcctcttgaatgGtggtggaaagttgctggtta	10	14	12	5	0	1	2	0	1	1	1	2	3	2	3	1	4	2	3	1	4	6	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr2:136630288G>C	uc002tuw.3	-	1	309	c.233C>G	c.(232-234)aCc>aGc	p.T78S		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	78					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTCTTGAATGGTGGTGGAAAG	0.413													C	136630288	G	C	136630288	3	2	114	1	0	0	0	0	1	0	0	0	9466	1261	44	4	2296	4	MCM6	2	136630288	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		136630288	106569085	5	7555											
SCN10A	6336	broad.mit.edu	37	chr3	38755494	38755494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcagtggccgcagagcGcgaagggttcgaagggcttt	7	6	17	11	5	0	1	0	0	0	1	1	3	0	1	2	3	1	4	2	3	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38755494G>A	uc003ciq.3	-	20	3759	c.3759C>T	c.(3757-3759)cgC>cgT	p.R1253R		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1253					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCGCAGAGCGCGAAGGGTTC	0.527													A	38755494	G	A	38755494	2	1	114	1	0	0	0	0	0	0	0	1	14005	1074	38	1		1	SCN10A	3	38755494	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		38755494	159266936	6	7556											
SCN11A	11280	broad.mit.edu	37	chr3	38913127	38913128	+	Frame_Shift_Ins	INS	-	-	C																															cccagaatacaaaatacgagINSccagaaaatgaggcagacaa																										TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:38913127_38913128insC	uc021wvy.1	-	20	3766_3767	c.3567_3568insG	c.(3565-3570)tggctcfs	p.W1189fs		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1189					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAAAATACGAGCCAGAAAATGA	0.361													C	38913128	-	C	38913127	7	5	114	1	0	1	1	0	0	0	0	0	14006	971	34	0	1831	0	SCN11A	3	38913127	Frame_Shift_Ins	INS	-	TCGA-12-0619-01A-01D-1492-08	157633	38913127	159109303	7	7557											
GNB4	59345	broad.mit.edu	37	chr3	179137188	179137189	+	Frame_Shift_Ins	INS	-	-	G																															gtaatgacaggtacaaacctINSggaatcgtatccccaatgca																								rs35612039		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:179137188_179137189insG	uc003fjv.4	-	4	483	c.203_splice	c.e4+1	p.R68_splice	GNB4_uc003fju.4_5'Flank	NM_021629	NP_067642	Q9HAV0	GBB4_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 4 (GNB4), mRNA.	68					cellular response to glucagon stimulus|energy reserve metabolic process	plasma membrane	signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	16	all_cancers(143;2.01e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.237)			GGTACAAACCTGGAATCGTATC	0.361													G	179137189	-	G	179137188	7	5	114	1	0	1	1	0	0	0	0	0	6576	1594	55	0	848	0	GNB4	3	179137188	Frame_Shift_Ins	INS	-	TCGA-12-0619-01A-01D-1492-08	140224061	179137188	18885242	8	7558											
ETV5	2119	broad.mit.edu	37	chr3	185823619	185823619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacataaacttacccctggGaccataaaagggacttgctg	13	8	8	12	0	0	0	0	0	0	0	0	2	0	2	4	2	3	1	4	2	5	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr3:185823619G>A	uc003fpy.3	-	1	230	c.165C>T	c.(163-165)gtC>gtT	p.V55V	ETV5_uc003fpz.3_Silent_p.V13V	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	13					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			TTACCCCTGGGACCATAAAAG	0.453			T	"TMPRSS2, SCL45A3"	Prostate								A	185823619	G	A	185823619	2	1	114	1	0	0	0	0	0	0	0	1	5323	1161	41	2		2	ETV5	3	185823619	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	6686431	185823619	12198811	9	7559											
TACC3	10460	broad.mit.edu	37	chr4	1725208	1725208	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaatacagaaaattgCgacttcctgttttcgccacc	15	10	6	10	2	0	1	0	0	0	1	2	3	1	1	3	0	2	1	3	0	6	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:1725208C>T	uc003gdo.3	+	1	215	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TMEM129_uc003gdn.3_5'Flank|TMEM129_uc003gdm.3_5'Flank|TACC3_uc010ibz.3_Silent_p.C20C|TACC3_uc003gdp.3_Silent_p.C20C	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	20						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			CAGAAAATTGCGACTTCCTGT	0.433													T	1725208	C	T	1725208	2	4	114	1	0	0	0	0	0	0	0	1	15600	776	27	1		1	TACC3	4	1725208	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08		1725208	189429068	10	7560											
TBC1D9	23158	broad.mit.edu	37	chr4	141580777	141580777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagtaatctgggagcatgCgctcacacaaagccacaagc	13	7	10	11	1	2	0	1	0	1	0	2	1	2	1	1	1	4	4	1	1	4	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:141580777C>T	uc010ioj.3	-	10	2158	c.1886G>A	c.(1885-1887)cGc>cAc	p.R629H		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	629	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGGAGCATGCGCTCACACAA	0.448													T	141580777	C	T	141580777	3	4	114	1	0	0	0	0	1	0	0	0	15727	768	27	1	1958	1	TBC1D9	4	141580777	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	139855569	141580777	49573499	11	7561											
GRIA2	2891	broad.mit.edu	37	chr4	158284178	158284178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttacaacgtatatggcatCgaaagtgttaaaatttaggg	14	12	11	4	2	0	0	0	0	0	0	1	1	0	0	0	3	2	4	0	3	8	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr4:158284178C>T	uc003ipm.4	+	14	3093	c.2634C>T	c.(2632-2634)atC>atT	p.I878I	GRIA2_uc011cit.2_Silent_p.I831I|GRIA2_uc003ipl.4_Silent_p.I878I|GRIA2_uc003ipk.4_Silent_p.I831I|GRIA2_uc011civ.1_Non-coding_Transcript|GRIA2_uc011ciw.1_Non-coding_Transcript|GRIA2_uc011cix.1_3'UTR|GRIA2_uc011ciy.1_3'UTR|GRIA2_uc011ciz.1_Non-coding_Transcript	NM_001083619	NP_001077088	P42262	GRIA2_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 2 (GRIA2), transcript variant 2, mRNA.	878					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.I878I(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	TATATGGCATCGAAAGTGTTA	0.378													T	158284178	C	T	158284178	2	4	114	1	0	0	0	0	0	0	0	1	6823	874	31	1		1	GRIA2	4	158284178	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	16703401	158284178	32870098	12	7562											
DNAH5	1767	broad.mit.edu	37	chr5	13753418	13753418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcaattaacaaagggtaaCgagatgccttcgtgacaata	16	9	9	7	2	1	2	1	1	0	1	2	4	1	2	1	1	3	1	1	1	6	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:13753418C>G	uc003jfd.2	-	62	10838	c.10796G>C	c.(10795-10797)cGt>cCt	p.R3599P	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3599	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAAAGGGTAACGAGATGCCTT	0.368									Kartagener syndrome				G	13753418	C	G	13753418	3	3	114	1	0	0	0	0	1	0	0	0	4643	536	19	4	3146	4	DNAH5	5	13753418	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		13753418	167161842	13	7563											
MAP3K1	4214	broad.mit.edu	37	chr5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgcagcagatagggcCtaactctttcctgattggag	9	12	10	10	0	1	2	0	1	1	1	2	3	2	3	2	2	4	2	2	2	3	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468													T	56160697	C	T	56160697	3	4	114	1	0	0	0	0	1	0	0	0	9318	681	24	2	985	2	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	42407279	56160697	124754563	14	7564											
GRAMD3	65983	broad.mit.edu	37	chr5	125821443	125821443	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtccgatgcttcaccatAttcttatattctatgcaatt	11	17	4	9	1	3	0	1	0	2	0	4	1	4	0	2	0	2	2	2	0	6	8			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:125821443A>T	uc011cwt.2	+	10	1317	c.1081A>T	c.(1081-1083)Att>Ttt	p.I361F	GRAMD3_uc003ktu.3_Missense_Mutation_p.I346F|GRAMD3_uc011cwv.2_Missense_Mutation_p.I354F|GRAMD3_uc011cww.2_Missense_Mutation_p.I242F|GRAMD3_uc011cwx.2_Non-coding_Transcript|GRAMD3_uc011cwy.2_Missense_Mutation_p.I237F|GRAMD3_uc011cwz.2_Missense_Mutation_p.I330F	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	346										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		GCTTCACCATATTCTTATATT	0.348													T	125821443	A	T	125821443	3	4	114	1	0	0	0	0	1	0	0	0	6806	449	16	5	1292	5	GRAMD3	5	125821443	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	69660746	125821443	55093817	15	7565											
PCDHAC2	56139	broad.mit.edu	37	chr5	140236992	140236992	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaacgacaacgcgcctgcGttcgcgcagtccgagtacac	9	6	12	14	7	0	1	0	1	0	0	2	3	1	1	2	0	4	3	2	0	3	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140236992G>A	uc003lhx.2	+	0	1359	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Silent_p.A453A|PCDHAC2_uc011dad.2_Silent_p.A453A	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	468	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A453A(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGT	0.677													A	140236992	G	A	140236992	2	1	114	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140236992	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	14415549	140236992	40678268	16	7566											
PCDHB2	56133	broad.mit.edu	37	chr5	140475875	140475875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccccaggacccgcacctgCccctcgcctccctggtctcc	3	6	8	24	3	1	0	0	0	1	0	4	1	2	1	9	2	1	1	9	2	0	0			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr5:140475875C>A	uc003lil.3	+	0	1639	c.1501C>A	c.(1501-1503)Ccc>Acc	p.P501T	PCDHB2_uc003lim.1_Missense_Mutation_p.P162T	NM_018936	NP_061759	Q9Y5E7	PCDB2_HUMAN	Homo sapiens protocadherin beta 2 (PCDHB2), mRNA.	501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGCACCTGCCCCTCGCCTC	0.692													A	140475875	C	A	140475875	3	1	114	1	0	0	0	0	1	0	0	0	11618	739	26	4	1503	4	PCDHB2	5	140475875	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	238883	140475875	40439385	17	7567											
GPR116	221395	broad.mit.edu	37	chr6	46856078	46856078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcttactcacctgttgTcacatttatgctcaaaatgt	9	16	6	10	0	4	0	3	0	1	0	5	0	4	0	1	1	2	2	1	1	4	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:46856078T>C	uc003oyo.3	-	3	611	c.322A>G	c.(322-324)Aca>Gca	p.T108A	GPR116_uc003oyp.3_Missense_Mutation_p.T108A|GPR116_uc003oyq.3_Missense_Mutation_p.T108A|GPR116_uc003oyr.2_Missense_Mutation_p.T108A	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	108					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TCACCTGTTGTCACATTTATG	0.403													C	46856078	T	C	46856078	3	2	114	1	0	0	0	0	1	0	0	0	6687	1667	58	3	3790	3	GPR116	6	46856078	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08		46856078	124258989	18	7568											
HTR1E	3354	broad.mit.edu	37	chr6	87725312	87725312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctacattgtcatggatcGctggaagcttgggtacttcc	8	13	10	10	1	2	0	1	0	1	0	4	2	3	2	1	3	3	3	1	3	3	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr6:87725312G>A	uc003pli.3	+	1	963	c.260G>A	c.(259-261)cGc>cAc	p.R87H	HTR1E_uc021zcg.1_Missense_Mutation_p.R87H	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	87					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.R87H(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTCATGGATCGCTGGAAGCTT	0.572													A	87725312	G	A	87725312	3	1	114	1	0	0	0	0	1	0	0	0	7497	1087	38	1	262	1	HTR1E	6	87725312	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	40869234	87725312	83389755	19	7569											
SDK1	221935	broad.mit.edu	37	chr7	4169639	4169639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcctgcgcaagttcGtgctctacgagctccaggtg	6	9	14	12	3	1	0	0	0	1	0	3	1	2	0	2	3	4	5	2	3	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:4169639G>A	uc003smx.3	+	26	4178	c.4039G>A	c.(4039-4041)Gtg>Atg	p.V1347M	SDK1_uc010kso.3_Missense_Mutation_p.V623M|SDK1_uc003smy.3_5'UTR	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1347	Fibronectin type-III 7.				cell adhesion	integral to membrane		p.V1347M(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCGCAAGTTCGTGCTCTACGA	0.657													A	4169639	G	A	4169639	3	1	114	1	0	0	0	0	1	0	0	0	14061	1145	40	1	4145	1	SDK1	7	4169639	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		4169639	154969024	20	7570											
SKAP2	8935	broad.mit.edu	37	chr7	26778465	26778465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttactgagagcacaccaccGtttctgccattcaaatccca	11	11	5	14	1	2	1	1	1	1	1	3	2	3	1	4	0	3	2	4	0	2	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:26778465G>A	uc003syc.3	-	5	711	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R125W	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	140	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GCACACCACCGTTTCTGCCAT	0.328													A	26778465	G	A	26778465	3	1	114	1	0	0	0	0	1	0	0	0	14450	1144	40	1	689	1	SKAP2	7	26778465	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	22608826	26778465	132360198	21	7571											
ZPBP	11055	broad.mit.edu	37	chr7	50097662	50097662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgaggaaacatgtataaAttccactcatactctcctca	14	12	4	11	1	3	0	2	0	1	0	6	2	4	1	2	1	2	1	2	1	5	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:50097662A>G	uc003tou.3	-	3	480	c.410T>C	c.(409-411)aTt>aCt	p.I137T	ZPBP_uc010kyw.3_Missense_Mutation_p.I136T	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	137					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					ACATGTATAAATTCCACTCAT	0.333													G	50097662	A	G	50097662	3	3	114	1	0	0	0	0	1	0	0	0	18318	101	4	3	665	3	ZPBP	7	50097662	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	23319197	50097662	109041001	22	7572											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	114	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	5135381	55233043	103905620	23	7573											
PTPN12	5782	broad.mit.edu	37	chr7	77256938	77256938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactaggaaagtattgccaAtgtccattgctagacataat	14	12	7	8	0	0	1	0	0	0	1	1	2	1	2	2	1	3	2	2	1	7	7			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:77256938A>G	uc003ugh.2	+	12	2033	c.1942A>G	c.(1942-1944)Atg>Gtg	p.M648V	PTPN12_uc011kgp.1_Missense_Mutation_p.M529V|PTPN12_uc011kgq.1_Missense_Mutation_p.M518V|PTPN12_uc010lds.2_Missense_Mutation_p.M380V	NM_002835	NP_002826	Q05209	PTN12_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 12 (PTPN12), transcript variant 1, mRNA.	648						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						AGTATTGCCAATGTCCATTGC	0.373													G	77256938	A	G	77256938	3	3	114	1	0	0	0	0	1	0	0	0	12867	101	4	3	1992	3	PTPN12	7	77256938	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	22023895	77256938	81881725	24	7574											
PAX4	5078	broad.mit.edu	37	chr7	127254980	127254980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttcagcacaaagctggCgttggatttcccaggcaaag	10	8	11	12	1	1	0	1	0	0	0	2	1	2	1	2	3	2	4	2	3	2	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:127254980C>T	uc010lld.1	-	1	496	c.290G>A	c.(289-291)cGc>cAc	p.R97H	PAX4_uc003vmf.2_Missense_Mutation_p.R95H|PAX4_uc003vmg.1_Missense_Mutation_p.R97H|PAX4_uc003vmh.3_Missense_Mutation_p.R95H	NM_006193	NP_006184	O43316	PAX4_HUMAN	Homo sapiens paired box 4 (PAX4), mRNA.	105	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						ACAAAGCTGGCGTTGGATTTC	0.592													T	127254980	C	T	127254980	3	4	114	1	0	0	0	0	1	0	0	0	11557	768	27	1	773	1	PAX4	7	127254980	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	49998042	127254980	31883683	25	7575											
PLXNA4	91584	broad.mit.edu	37	chr7	131872333	131872333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccctccggacatgggccCccggctgggcttcagatctg	4	8	14	15	2	2	1	1	0	1	1	4	2	4	2	4	5	0	2	4	5	0	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:131872333C>T	uc003vra.4	-	14	3119	c.2890G>A	c.(2890-2892)Ggg>Agg	p.G964R		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	964	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GACATGGGCCCCCGGCTGGGC	0.587													T	131872333	C	T	131872333	3	4	114	1	0	0	0	0	1	0	0	0	12199	623	22	2	2866	2	PLXNA4	7	131872333	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	4617353	131872333	27266330	26	7576											
DENND2A	27147	broad.mit.edu	37	chr7	140301257	140301257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagtcttctgttcacagagGaaggtgggggagaggagggc	10	7	18	6	0	3	2	1	0	2	2	3	5	3	4	0	6	0	1	0	6	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr7:140301257G>A	uc010lnk.3	-	2	1461	c.941C>T	c.(940-942)tCc>tTc	p.S314F	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.S314F|DENND2A_uc003vvw.3_Missense_Mutation_p.S314F|DENND2A_uc003vvx.3_Missense_Mutation_p.S314F	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	314										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					GTTCACagaggaaggtggggg	0.587													A	140301257	G	A	140301257	3	1	114	1	0	0	0	0	1	0	0	0	4468	1174	41	2	2160	2	DENND2A	7	140301257	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	8428924	140301257	18837406	27	7577											
ODF2	4957	broad.mit.edu	37	chr9	131233667	131233667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaggaggtggcccaCgaactggctgagactgagca	10	5	17	9	1	0	2	0	2	0	1	0	7	0	4	1	5	3	3	1	5	1	0			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:131233667C>T	uc004bvc.3	+	5	779	c.693C>T	c.(691-693)caC>caT	p.H231H	ODF2_uc011maz.2_Silent_p.H167H|ODF2_uc011mba.2_Intron|ODF2_uc010myb.3_Silent_p.H143H|ODF2_uc011mbc.2_Silent_p.H86H|ODF2_uc022boj.1_Silent_p.H192H|ODF2_uc004bva.3_Silent_p.H211H|ODF2_uc004bvb.3_Silent_p.H143H|ODF2_uc011mbd.2_Silent_p.H167H|ODF2_uc011mbe.2_Silent_p.H162H|ODF2_uc010myc.3_Silent_p.H110H|ODF2_uc011mbf.2_Silent_p.H148H|ODF2_uc004bvd.4_Silent_p.H167H|ODF2_uc004bve.3_Silent_p.H148H	NM_153435	NP_702913	Q5BJF6	ODFP2_HUMAN	Homo sapiens outer dense fiber of sperm tails 2 (ODF2), transcript variant 1, mRNA.	167					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centriole|cilium|cytosol|microtubule|spindle pole	protein binding|structural molecule activity			autonomic_ganglia(1)|breast(7)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	37						AGGTGGCCCACGAACTGGCTG	0.577													T	131233667	C	T	131233667	2	4	114	1	0	0	0	0	0	0	0	1	10903	535	19	1		1	ODF2	9	131233667	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08		131233667	9979764	28	7578											
PRDM12	59335	broad.mit.edu	37	chr9	133540113	133540113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcgccgggactggcgctgGccgaggttatcacctccgac	6	6	15	14	5	1	0	1	0	0	0	2	3	2	1	4	5	0	2	4	5	1	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540113G>A	uc004bzt.1	+	0	133	c.73G>A	c.(73-75)Gcc>Acc	p.A25T		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		ACTGGCGCTGGCCGAGGTTAT	0.706													A	133540113	G	A	133540113	3	1	114	1	0	0	0	0	1	0	0	0	12539	1203	42	2	75	2	PRDM12	9	133540113	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	2306446	133540113	7673318	29	7579			1	24		2	2	12	N	G_C	2.345181e-05
PRDM12	59335	broad.mit.edu	37	chr9	133540124	133540124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcgctggccgaggttatCacctccgacatcctgcacag	7	8	11	15	3	1	0	1	0	0	0	3	2	3	0	4	3	1	3	4	3	1	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr9:133540124C>T	uc004bzt.1	+	0	144	c.84C>T	c.(82-84)atC>atT	p.I28I		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	28					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		CCGAGGTTATCACCTCCGACA	0.687													T	133540124	C	T	133540124	2	4	114	1	0	0	0	0	0	0	0	1	12539	816	29	2		2	PRDM12	9	133540124	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	11	133540124	7673307	30	7580			1	24		2	2	12	N	G_C	2.345181e-05
STAMBPL1	57559	broad.mit.edu	37	chr10	90674395	90674395	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaggaatagaaacctgtGgaatactctgtggaaaactg	15	9	12	5	0	1	2	0	1	1	2	1	6	1	5	1	3	3	0	1	3	7	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr10:90674395G>T	uc001kfk.3	+	6	1306	c.883G>T	c.(883-885)Gga>Tga	p.G295*	STAMBPL1_uc010qmx.1_Nonsense_Mutation_p.G295*|STAMBPL1_uc009xto.3_Non-coding_Transcript|STAMBPL1_uc001kfl.3_Nonsense_Mutation_p.G295*|STAMBPL1_uc001kfn.3_Nonsense_Mutation_p.G129*	NM_020799	NP_065850	Q96FJ0	STALP_HUMAN	Homo sapiens STAM binding protein-like 1 (STAMBPL1), mRNA.	295	MPN.						metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		AGAAACCTGTGGAATACTCTG	0.333													T	90674395	G	T	90674395	4	4	114	1	0	0	0	0	0	1	0	0	15347	1349	47	4	905	4	STAMBPL1	10	90674395	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		90674395	44860352	31	7581											
MUC5B	727897	broad.mit.edu	37	chr11	1266158	1266158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctcctctagcacacagaCcagtggtactcccccatcac	10	7	5	19	0	2	1	1	0	1	1	4	1	4	1	5	1	2	2	5	1	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:1266158C>G	uc001lta.3	+	30	8107	c.8048C>G	c.(8047-8049)aCc>aGc	p.T2683S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	2683	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGCACACAGACCAGTGGTACT	0.622													G	1266158	C	G	1266158	3	3	114	1	0	0	0	0	1	0	0	0	10055	507	18	4	8179	4	MUC5B	11	1266158	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		1266158	133740358	32	7582											
IGSF22	283284	broad.mit.edu	37	chr11	18731138	18731138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcaaggatgtagccagaggGtgggtctccctctgcaggct	7	9	14	11	0	3	1	1	0	2	1	4	2	3	2	2	4	2	3	2	4	2	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr11:18731138G>A	uc009yht.2	-	17	2984	c.2794C>T	c.(2794-2796)Ccc>Tcc	p.P932S	IGSF22_uc001mpa.2_Non-coding_Transcript	NM_173588	NP_775859	Q8N9C0	IGS22_HUMAN	Homo sapiens immunoglobulin superfamily, member 22 (IGSF22), mRNA.	831										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TAGCCAGAGGGTGGGTCTCCC	0.582													A	18731138	G	A	18731138	3	1	114	1	0	0	0	0	1	0	0	0	7658	1261	44	2	1210	2	IGSF22	11	18731138	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	17464980	18731138	116275378	33	7583											
SLC2A14	144195	broad.mit.edu	37	chr12	7980153	7980153	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgatgatgggctgtcGgtagctggacactctaaaga	12	9	14	6	1	1	3	0	2	1	1	2	5	1	5	0	4	1	3	0	4	4	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:7980153G>A	uc010sgh.2	-	5	937	c.916C>T	c.(916-918)Cga>Tga	p.R306*	SLC2A14_uc001qtk.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qtl.3_Nonsense_Mutation_p.R268*|SLC2A14_uc001qtm.3_Nonsense_Mutation_p.R268*|SLC2A14_uc010sgg.2_Nonsense_Mutation_p.R182*|SLC2A14_uc001qtn.3_Nonsense_Mutation_p.R291*|SLC2A14_uc001qto.3_Intron	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	291					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)		ATGGGCTGTCGGTAGCTGGAC	0.478													A	7980153	G	A	7980153	4	1	114	1	0	0	0	0	0	1	0	0	14637	1124	39	1	711	1	SLC2A14	12	7980153	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		7980153	125871742	34	7584											
SLC2A3	6515	broad.mit.edu	37	chr12	8082342	8082342	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgatgatgggctgtcGgtagctggacactctaaaga	12	9	14	6	1	1	3	0	2	1	1	2	5	1	5	0	4	1	3	0	4	4	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:8082342G>A	uc001qtr.3	-	5	1061	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_006931	NP_008862	P11169	GTR3_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 3 (SLC2A3), mRNA.	267					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		ATGGGCTGTCGGTAGCTGGAC	0.473													A	8082342	G	A	8082342	4	1	114	1	0	0	0	0	0	1	0	0	14639	1124	39	1	711	1	SLC2A3	12	8082342	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	102189	8082342	125769553	35	7585											
IGF1	3479	broad.mit.edu	37	chr12	102813354	102813354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgacttggcaggcttgAggggtgcgcaatacatctcc	8	9	14	10	1	1	2	0	2	1	0	2	3	1	2	1	4	3	4	1	4	2	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:102813354A>G	uc001tjp.4	-	2	554	c.335T>C	c.(334-336)cTc>cCc	p.L112P	IGF1_uc001tjn.2_Missense_Mutation_p.L96P|IGF1_uc001tjm.2_Missense_Mutation_p.L112P|IGF1_uc001tjo.2_Missense_Mutation_p.L112P	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	112	D.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						GGCAGGCTTGAGGGGTGCGCA	0.617													G	102813354	A	G	102813354	3	3	114	1	0	0	0	0	1	0	0	0	7628	304	11	3	324	3	IGF1	12	102813354	Missense_Mutation	SNP	A	TCGA-12-0619-01A-01D-1492-08	94731012	102813354	31038541	36	7586											
RASAL1	8437	broad.mit.edu	37	chr12	113565893	113565893	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtcctcatccagcacGtagaaggccagctggtggaa	11	7	12	11	1	1	1	1	0	0	1	3	2	3	2	3	3	2	3	3	3	3	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr12:113565893G>C	uc001tun.2	-	3	514	c.213C>G	c.(211-213)taC>taG	p.Y71*	RASAL1_uc010syp.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tul.3_Nonsense_Mutation_p.Y71*|RASAL1_uc001tum.2_Nonsense_Mutation_p.Y71*|RASAL1_uc010syq.2_Nonsense_Mutation_p.Y71*|RASAL1_uc001tuo.4_Nonsense_Mutation_p.Y71*|RASAL1_uc010syr.2_Nonsense_Mutation_p.Y71*	NM_001193520	NP_001180449	O95294	RASL1_HUMAN	Homo sapiens RAS protein activator like 1 (GAP1 like) (RASAL1), transcript variant 1, mRNA.	71	C2 1.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CATCCAGCACGTAGAAGGCCA	0.607													C	113565893	G	C	113565893	4	2	114	1	0	0	0	0	0	1	0	0	13151	1140	40	4	2277	4	RASAL1	12	113565893	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	10752539	113565893	20286002	37	7587											
OR10G2	26534	broad.mit.edu	37	chr14	22102746	22102746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaaaatccaaaataagccGaggaacggtgactgaggaga	18	5	12	6	2	0	3	0	2	0	1	1	6	1	4	2	3	2	1	2	3	6	2	rs141025992	byFrequency	TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:22102746G>A	uc010tmc.2	-	0	253	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	85			R -> L (in dbSNP:rs41314525).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AAAATAAGCCGAGGAACGGTG	0.527													A	22102746	G	A	22102746	3	1	114	1	0	0	0	0	1	0	0	0	10975	1057	37	1	682	1	OR10G2	14	22102746	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		22102746	85246794	38	7588											
EAPP	55837	broad.mit.edu	37	chr14	35005432	35005432	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattctctgatgagttttcGtttttggtcaggagttccat	7	18	9	7	1	2	2	1	2	1	0	5	3	3	3	1	2	0	3	1	2	0	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:35005432G>A	uc001wsd.1	-	1	233	c.124C>T	c.(124-126)Cga>Tga	p.R42*		NM_018453	NP_060923	Q56P03	EAPP_HUMAN	Homo sapiens E2F-associated phosphoprotein (EAPP), mRNA.	42					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		ATGAGTTTTCGTTTTTGGTCA	0.318													A	35005432	G	A	35005432	4	1	114	1	0	0	0	0	0	1	0	0	4916	1153	40	1	753	1	EAPP	14	35005432	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	12902686	35005432	72344108	39	7589											
C14orf49	161176	broad.mit.edu	37	chr14	95899695	95899695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccccttgctggcccgagacGaaggaggttctcaaagagat	10	7	12	12	2	1	2	1	0	1	2	2	6	1	3	3	3	1	2	3	3	2	2	rs141951711		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr14:95899695G>A	uc001yei.4	-	14	2605	c.2590C>T	c.(2590-2592)Cgt>Tgt	p.R864C	C14orf49_uc010avi.3_Missense_Mutation_p.R859C	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	864			R -> H (in dbSNP:rs17092216).		cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		GGCCCGAGACGAAGGAGGTTC	0.597													A	95899695	G	A	95899695	3	1	114	1	0	0	0	0	1	0	0	0	1789	1058	37	1	349	1	C14orf49	14	95899695	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	60894263	95899695	11449845	40	7590											
ARIH1	25820	broad.mit.edu	37	chr15	72767077	72767077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaggaggacgaagacgacGacgagccggacgatgatacc	14	2	16	9	6	0	2	0	1	0	1	0	11	0	6	2	4	2	0	2	4	2	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr15:72767077G>A	uc002aut.4	+	0	411	c.97G>A	c.(97-99)Gac>Aac	p.D33N		NM_005744	NP_005735	Q9Y4X5	ARI1_HUMAN	Homo sapiens ariadne homolog, ubiquitin-conjugating enzyme E2 binding protein, 1 (Drosophila) (ARIH1), mRNA.	33	Asp/Glu-rich (acidic).				ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	14						cgaagacgacgacgaGCCGGA	0.682													A	72767077	G	A	72767077	3	1	114	1	0	0	0	0	1	0	0	0	926	1058	37	1	99	1	ARIH1	15	72767077	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		72767077	29764315	41	7591											
ACSM2A	123876	broad.mit.edu	37	chr16	20492162	20492162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccggattggaccctcGgaggtagagaatgcactgat	11	8	14	8	2	0	2	0	1	0	1	1	6	0	5	2	5	2	3	2	5	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:20492162G>A	uc010bwe.3	+	12	1667	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_uc010vax.1_Silent_p.S397S|ACSM2A_uc002dhf.4_Silent_p.S476S|ACSM2A_uc002dhg.4_Silent_p.S476S|ACSM2A_uc010vay.2_Silent_p.S397S|ACSM2A_uc002dhh.4_Silent_p.S106S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567													A	20492162	G	A	20492162	2	1	114	1	0	0	0	0	0	0	0	1	183	1103	39	1		1	ACSM2A	16	20492162	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		20492162	69862591	42	7592											
HS3ST4	9951	broad.mit.edu	37	chr16	26147419	26147419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagacagcagtgccccgagGtgcttaggcaagagcaaagg	13	4	15	9	1	0	2	0	0	0	2	0	4	0	2	2	3	4	4	2	3	4	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:26147419G>A	uc002dof.3	+	1	1613	c.1221G>A	c.(1219-1221)agG>agA	p.R407R		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	407					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GTGCCCCGAGGTGCTTAGGCA	0.473													A	26147419	G	A	26147419	2	1	114	1	0	0	0	0	0	0	0	1	7422	1252	44	2		2	HS3ST4	16	26147419	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08	5655257	26147419	64207334	43	7593											
SEZ6L2	26470	broad.mit.edu	37	chr16	29897033	29897033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccgaatcatagatcaCgggggatagggggctgcccc	9	7	14	11	2	2	1	2	0	0	1	3	3	3	2	3	4	1	1	3	4	3	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:29897033C>T	uc010vec.2	-	7	1491	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.V346M|SEZ6L2_uc002dur.4_Missense_Mutation_p.V346M|SEZ6L2_uc002duq.4_Missense_Mutation_p.V416M|SEZ6L2_uc010ved.2_Missense_Mutation_p.V372M|SEZ6L2_uc002dus.4_Missense_Mutation_p.V302M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	416	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCATAGATCACGGGGGATAGG	0.612													T	29897033	C	T	29897033	3	4	114	1	0	0	0	0	1	0	0	0	14237	536	19	1	1569	1	SEZ6L2	16	29897033	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	3749614	29897033	60457720	44	7594											
LONP2	83752	broad.mit.edu	37	chr16	48303999	48303999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggaaaaattgaagaaaaGagtactggaatacttggctg	17	9	11	4	0	0	3	0	1	0	2	0	5	0	5	0	3	2	2	0	3	8	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:48303999G>A	uc002efi.1	+	6	1144	c.1055G>A	c.(1054-1056)aGa>aAa	p.R352K	MIR548AE2_uc021thr.1_Intron|LONP2_uc010vgm.1_Non-coding_Transcript|LONP2_uc002efj.1_Missense_Mutation_p.R308K	NM_031490	NP_113678	Q86WA8	LONP2_HUMAN	Homo sapiens lon peptidase 2, peroxisomal (LONP2), mRNA.	352					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTGAAGAAAAGAGTACTGGAA	0.443													A	48303999	G	A	48303999	3	1	114	1	0	0	0	0	1	0	0	0	8963	942	33	2	1081	2	LONP2	16	48303999	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	18406966	48303999	42050754	45	7595											
PMFBP1	83449	broad.mit.edu	37	chr16	72184650	72184650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgtccccggccaaggCgagttgctcctgcgccaaat	7	9	11	14	3	1	0	0	0	1	0	3	2	3	0	5	2	2	2	5	2	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr16:72184650C>T	uc002fcc.4	-	4	665	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	PMFBP1_uc002fcd.3_Missense_Mutation_p.A165T|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A20T	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	165										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCGGCCAAGGCGAGTTGCTCC	0.493													T	72184650	C	T	72184650	3	4	114	1	0	0	0	0	1	0	0	0	12211	768	27	1	2658	1	PMFBP1	16	72184650	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	23880651	72184650	18170103	46	7596											
TP53	7157	broad.mit.edu	37	chr17	7578440	7578440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgtgctgtgactgctTgtagatggccatggcgcgga	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:7578440T>C	uc002gim.2	-	4	684	c.490A>G	c.(490-492)Aag>Gag	p.K164E	TP53_uc002gig.1_Missense_Mutation_p.K164E|TP53_uc002gih.3_Missense_Mutation_p.K164E|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.K32E|TP53_uc010cnf.1_Missense_Mutation_p.K32E|TP53_uc002gii.1_Missense_Mutation_p.K32E|TP53_uc010cni.1_Missense_Mutation_p.K164E|TP53_uc010cnh.1_Missense_Mutation_p.K164E|TP53_uc002gij.2_Missense_Mutation_p.K164E|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K71E|TP53_uc002gio.2_Missense_Mutation_p.K32E|TP53_uc010vug.2_Missense_Mutation_p.K125E	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	164	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> 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.Y163C(112)|p.K164E(28)|p.K164*(22)|p.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163*(7)|p.K164N(6)|p.Y163S(5)|p.K164M(4)|p.K164Q(4)|p.K164fs*6(4)|p.K164fs*3(4)|p.Y163fs*1(3)|p.Y163Y(3)|p.Y163D(3)|p.K164fs*5(3)|p.V157_C176del20(2)|p.Y163_Q165delYKQ(2)|p.P151_V173del23(2)|p.Y163fs*7(2)|p.K164T(2)|p.K164fs*17(2)|p.K164K(2)|p.Y163fs*14(2)|p.A159_Q167delAMAIYKQSQ(2)|p.I162_Y163>N(1)|p.K164_P219del(1)|p.S149fs*72(1)|p.K164_Q165insXXX(1)|p.I162_Y163delIY(1)|p.K71E(1)|p.K164R(1)|p.K32E(1)|p.Y163fs*18(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)		TGTGACTGCTTGTAGATGGCC	0.627		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)			C	7578440	T	C	7578440	3	2	114	1	0	0	0	0	1	0	0	0	16482	1821	63	3	808	3	TP53	17	7578440	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08		7578440	73616770	47	7597											
MYOCD	93649	broad.mit.edu	37	chr17	12655804	12655804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaacggctctcatggaccGgcttcgacccttccaggact	9	8	9	15	3	1	0	1	0	1	0	4	3	2	2	3	4	1	2	3	4	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:12655804G>A	uc002gno.2	+	9	1498	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	MYOCD_uc002gnn.2_Missense_Mutation_p.R400Q|MYOCD_uc002gnp.1_Missense_Mutation_p.R304Q|MYOCD_uc002gnq.2_Missense_Mutation_p.R119Q	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	400	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTCATGGACCGGCTTCGACCC	0.507													A	12655804	G	A	12655804	3	1	114	1	0	0	0	0	1	0	0	0	10163	1116	39	1	1237	1	MYOCD	17	12655804	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	5077364	12655804	68539406	48	7598											
KRT12	3859	broad.mit.edu	37	chr17	39019850	39019850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggtgctaatctccttacGgagctccccgctctgcaaca	7	11	9	14	2	2	0	0	0	2	0	4	1	3	1	3	2	5	5	3	2	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:39019850G>A	uc002hvk.2	-	4	1006	c.982C>T	c.(982-984)Cgt>Tgt	p.R328C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	328	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ATCTCCTTACGGAGCTCCCCG	0.567													A	39019850	G	A	39019850	3	1	114	1	0	0	0	0	1	0	0	0	8507	1116	39	1	518	1	KRT12	17	39019850	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	26364046	39019850	42175360	49	7599											
COL1A1	1277	broad.mit.edu	37	chr17	48275131	48275131	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggacctgggggacctcGgggacccatgggaccctaga	8	4	18	11	1	0	1	0	0	0	1	1	5	0	5	4	7	0	0	4	7	1	1	rs72667036		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:48275131G>A	uc002iqm.3	-	8	784	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	220	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.R220*(2)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GGGGGACCTCGGGGACCCATG	0.507			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48275131	G	A	48275131	4	1	114	1	0	0	0	0	0	1	0	0	3708	1124	39	1	3908	1	COL1A1	17	48275131	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	9255281	48275131	32920079	50	7600											
ABCA6	23460	broad.mit.edu	37	chr17	67098976	67098976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaaaggcaaacatacCttttgtttaccagaaactat	18	10	5	8	0	0	1	0	0	0	1	0	1	0	1	2	1	5	3	2	1	8	6			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:67098976C>A	uc002jhw.1	-	21	3049	c.2874_splice	c.e21+1	p.K958_splice		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	958					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GCAAACATACCTTTTGTTTAC	0.313													A	67098976	C	A	67098976	3	1	114	1	0	0	0	0	1	0	0	0	36	695	24	4	2055	4	ABCA6	17	67098976	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	18823845	67098976	14096234	51	7601											
SDK2	54549	broad.mit.edu	37	chr17	71426663	71426663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacctgatggttactcGggggtcgtgggtcactccgc	5	10	14	12	3	1	1	1	1	0	0	4	1	2	1	3	4	2	2	3	4	2	2	rs147877604		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr17:71426663G>A	uc010dfm.3	-	11	1570	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	SDK2_uc010dfn.2_Nonsense_Mutation_p.R203*	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	524	Ig-like C2-type 6.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ATGGTTACTCGGGGGTCGTGG	0.602													A	71426663	G	A	71426663	4	1	114	1	0	0	0	0	0	1	0	0	14062	1124	39	1	5084	1	SDK2	17	71426663	Nonsense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	4327687	71426663	9768547	52	7602											
CELF4	56853	broad.mit.edu	37	chr18	34853005	34853005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtcataggtgcggccGccaggccattcatgttgagg	6	10	16	9	2	2	1	2	1	0	0	2	1	2	1	3	6	1	1	3	6	1	4			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr18:34853005G>A	uc002lae.2	-	6	1319	c.923C>T	c.(922-924)gCg>gTg	p.A308V	CELF4_uc021uix.1_Missense_Mutation_p.A306V|CELF4_uc021uiy.1_Missense_Mutation_p.A307V|CELF4_uc002lag.2_Missense_Mutation_p.A298V|CELF4_uc002laf.2_Missense_Mutation_p.A303V|CELF4_uc002lai.2_Missense_Mutation_p.A293V|CELF4_uc002lah.2_Missense_Mutation_p.A33V|CELF4_uc002laj.1_Silent_p.G143G	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	308	Ala-rich.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.A308V(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						AGGTGCGGCCGCCAGGCCATT	0.652													A	34853005	G	A	34853005	3	1	114	1	0	0	0	0	1	0	0	0	3248	1087	38	1	561	1	CELF4	18	34853005	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08		34853005	43224243	53	7603											
MUC16	94025	broad.mit.edu	37	chr19	9067037	9067037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggtgaaggcatcagggaAgaggagaagctggttttctc	10	9	16	6	0	2	3	1	1	1	2	3	5	2	4	0	5	1	4	0	5	3	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:9067037A>G	uc002mkp.3	-	2	20613	c.20409T>C	c.(20407-20409)tcT>tcC	p.S6803S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6805	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						GCATCAGGGAAGAGGAGAAGC	0.473													G	9067037	A	G	9067037	2	3	114	1	0	0	0	0	0	0	0	1	10049	59	3	3		3	MUC16	19	9067037	Silent	SNP	A	TCGA-12-0619-01A-01D-1492-08		9067037	50061946	54	7604											
GLT25D1	79709	broad.mit.edu	37	chr19	17679388	17679388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggggctgctttgcagttcCcatggtgcactcgaccttcc	4	11	11	15	2	0	0	0	0	0	0	3	1	2	0	4	3	3	5	4	3	0	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:17679388C>T	uc002nhc.1	+	4	707	c.695C>T	c.(694-696)cCc>cTc	p.P232L	GLT25D1_uc010eax.1_5'UTR	NM_024656	NP_078932	Q8NBJ5	GT251_HUMAN	Homo sapiens glycosyltransferase 25 domain containing 1 (GLT25D1), mRNA.	232					lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen	procollagen galactosyltransferase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	14						TTTGCAGTTCCCATGGTGCAC	0.617													T	17679388	C	T	17679388	3	4	114	1	0	0	0	0	1	0	0	0	6522	623	22	2	713	2	GLT25D1	19	17679388	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	8612351	17679388	41449595	55	7605											
RSPH6A	81492	broad.mit.edu	37	chr19	46318327	46318327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcggggtccgctgcCagggcctgagcttggtcccg	2	9	14	16	3	1	1	0	1	1	0	5	1	3	1	5	4	2	2	5	4	0	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:46318327C>T	uc002pdm.3	-	0	279	c.108G>A	c.(106-108)ctG>ctA	p.L36L		NM_030785	NP_110412	Q9H0K4	RSH6A_HUMAN	Homo sapiens radial spoke head 6 homolog A (Chlamydomonas) (RSPH6A), mRNA.	36						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						GGTCCGCTGCCAGGGCCTGAG	0.687													T	46318327	C	T	46318327	2	4	114	1	0	0	0	0	0	0	0	1	13798	581	21	2		2	RSPH6A	19	46318327	Silent	SNP	C	TCGA-12-0619-01A-01D-1492-08	28638939	46318327	12810656	56	7606											
SHANK1	50944	broad.mit.edu	37	chr19	51205808	51205808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccatgaaggagcgtccggGtaccgctgagtagagcttcc	9	7	14	11	3	0	3	0	2	0	1	2	4	2	4	4	2	4	4	4	2	3	3			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51205808G>A	uc002psx.1	-	10	1682	c.1663C>T	c.(1663-1665)Ccc>Tcc	p.P555S		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	555	SH3.				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGCGTCCGGGTACCGCTGAG	0.697													A	51205808	G	A	51205808	3	1	114	1	0	0	0	0	1	0	0	0	14358	1261	44	2	4874	2	SHANK1	19	51205808	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	4887481	51205808	7923175	57	7607											
GPR32	2854	broad.mit.edu	37	chr19	51274077	51274077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcttccgtatggcaCgcacggtctccaccgtctgc	5	11	10	15	4	3	1	0	1	3	0	5	1	4	1	3	2	1	3	3	2	1	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:51274077C>T	uc010ycf.2	+	0	220	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	74						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CCGTATGGCACGCACGGTCTC	0.572													T	51274077	C	T	51274077	3	4	114	1	0	0	0	0	1	0	0	0	6742	536	19	1	222	1	GPR32	19	51274077	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	68269	51274077	7854906	58	7608											
TTYH1	57348	broad.mit.edu	37	chr19	54947301	54947304	+	Frame_Shift_Del	DEL	TCTA	TCTA	-																															gctttgtgcagtggcagtcgTctatctgagcccctcctccc																										TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:54947301_54947304delTCTA	uc002qfr.3	+	11	1421_1424	c.1299_1302delTCTA	c.(1297-1302)cgtctafs	p.R433fs	TTYH1_uc010yey.2_3'UTR|TTYH1_uc002qfq.3_Frame_Shift_Del_p.S449fs|TTYH1_uc002qft.3_Frame_Shift_Del_p.S450fs	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	0	Poly-Asp.				cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTGGCAGTCGTCTATCTGAGCCCC	0.642													-	54947304	TCTA	-	54947301	7	5	114	1	0	1	0	1	0	0	0	0	16841	1667	58	0	1395	0	TTYH1	19	54947301	Frame_Shift_Del	DEL	TCTA	TCGA-12-0619-01A-01D-1492-08	3673224	54947301	4181682	59	7609											
SBK2	646643	broad.mit.edu	37	chr19	56047417	56047417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctcgtacctttctgaCgatgggtgaccagaaggacg	10	8	12	11	3	1	3	0	2	1	1	2	5	1	4	3	2	2	1	3	2	2	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr19:56047417C>T	uc010ygc.2	-	1	260	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_001101401	NP_001094871	P0C263	SBK2_HUMAN	Homo sapiens SH3-binding domain kinase family, member 2 (SBK2), mRNA.	82	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						ACCTTTCTGACGATGGGTGAC	0.682													T	56047417	C	T	56047417	3	4	114	1	0	0	0	0	1	0	0	0	13953	536	19	1	812	1	SBK2	19	56047417	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08	1100116	56047417	3081566	60	7610											
HCK	3055	broad.mit.edu	37	chr20	30672225	30672225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgccagaaactgtcGgtgccctgcatgtcttccaa	7	10	11	13	1	2	1	0	0	2	1	4	1	3	1	3	2	4	2	3	2	2	1	rs147876395		TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr20:30672225G>A	uc002wxh.3	+	7	951	c.714G>A	c.(712-714)tcG>tcA	p.S238S	HCK_uc010gdy.3_Silent_p.S218S|HCK_uc021wbv.1_Silent_p.S217S|HCK_uc002wxi.3_Silent_p.S216S	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	238	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.S217S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGAAACTGTCGGTGCCCTGCA	0.587													A	30672225	G	A	30672225	2	1	114	1	0	0	0	0	0	0	0	1	7049	1103	39	1		1	HCK	20	30672225	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		30672225	32353295	61	7611											
RIMBP3	85376	broad.mit.edu	37	chr22	20458191	20458191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggtgtagcagctcacGcccgctggggtcagggcatg	7	7	17	10	2	2	0	2	0	0	0	2	1	2	1	1	5	2	5	1	5	2	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:20458191G>A	uc002zsd.4	-	0	3596	c.3111C>T	c.(3109-3111)ggC>ggT	p.G1037G	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			AGCAGCTCACGCCCGCTGGGG	0.642													A	20458191	G	A	20458191	2	1	114	1	0	0	0	0	0	0	0	1	13453	1074	38	1		1	RIMBP3	22	20458191	Silent	SNP	G	TCGA-12-0619-01A-01D-1492-08		20458191	30846375	62	7612											
CSF2RB	1439	broad.mit.edu	37	chr22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgagggaggggctcGgcagcctccacaccaggcac	8	4	15	14	1	0	1	0	1	0	0	2	2	1	2	3	5	2	4	3	5	0	0			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chr22:37326752G>A	uc003aqa.4	+	7	1109	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	298					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													A	37326752	G	A	37326752	3	1	114	1	0	0	0	0	1	0	0	0	3968	1116	39	1	918	1	CSF2RB	22	37326752	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	16868561	37326752	13977814	63	7613											
KLHL4	56062	broad.mit.edu	37	chrX	86887278	86887278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattggcaccatgaatggcCgtaggcttcaatttggagtc	10	12	11	8	1	1	1	1	1	0	0	2	2	1	2	2	4	0	3	2	4	4	5			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:86887278C>A	uc004efa.2	+	6	1575	c.1393C>A	c.(1393-1395)Cgt>Agt	p.R465S	KLHL4_uc004efb.2_Missense_Mutation_p.R465S	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	465						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding	p.R465H(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						CATGAATGGCCGTAGGCTTCA	0.393													A	86887278	C	A	86887278	3	1	114	1	0	0	0	0	1	0	0	0	8449	652	23	4	1419	4	KLHL4	23	86887278	Missense_Mutation	SNP	C	TCGA-12-0619-01A-01D-1492-08		86887278	68383282	64	7614											
MAGEC2	51438	broad.mit.edu	37	chrX	141291741	141291741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggggagtcgttgtcaacGttgcggaatggaacgcctgg	7	9	17	8	5	1	0	1	0	0	0	3	3	1	3	1	5	3	2	1	5	3	2			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:141291741G>T	uc022cfj.1	-	0	33	c.33C>A	c.(31-33)aaC>aaA	p.N11K	MAGEC2_uc004fbu.2_Missense_Mutation_p.N11K	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	11						cytoplasm|nucleus		p.N11K(2)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGTCAACGTTGCGGAATG	0.537										HNSCC(46;0.14)			T	141291741	G	T	141291741	3	4	114	1	0	0	0	0	1	0	0	0	9256	1136	40	4	1092	4	MAGEC2	23	141291741	Missense_Mutation	SNP	G	TCGA-12-0619-01A-01D-1492-08	54404463	141291741	13978819	65	7615											
CD99L2	83692	broad.mit.edu	37	chrX	149963729	149963729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatctcgatcatttcgaTcatccagggcatcagccaag	11	10	7	13	2	5	0	4	0	1	0	8	2	6	0	2	1	1	1	2	1	1	1			TCGA-12-0619-01A-01D-1492-08	TCGA-12-0619-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	79c65ab5-1924-4710-96e4-31e9a615a53e	3eae6dd0-7740-4b61-918a-5d7ba6eb042e	g.chrX:149963729T>C	uc004fek.3	-	5	620	c.392A>G	c.(391-393)gAt>gGt	p.D131G	CD99L2_uc011myb.2_Intron|CD99L2_uc004feo.3_Non-coding_Transcript|CD99L2_uc004fel.3_Missense_Mutation_p.D127G|CD99L2_uc004fem.3_Missense_Mutation_p.D78G|CD99L2_uc004fen.3_Missense_Mutation_p.D55G	NM_001242614	NP_001229543	Q8TCZ2	C99L2_HUMAN	Homo sapiens CD99 molecule-like 2 (CD99L2), transcript variant 5, mRNA.	127					cell adhesion	cell junction|integral to membrane		p.R131Q(1)		endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATCATTTCGATCATCCAGGGC	0.448													C	149963729	T	C	149963729	3	2	114	1	0	0	0	0	1	0	0	0	3081	1435	50	3	432	3	CD99L2	23	149963729	Missense_Mutation	SNP	T	TCGA-12-0619-01A-01D-1492-08	8671988	149963729	5306831	66	7616											
PADI6	353238	broad.mit.edu	37	chr1	17699701	17699701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacagtgaagatgacatcGcccagcccttccgtggatgc	9	7	11	14	2	0	3	0	2	0	1	2	4	1	4	4	1	2	0	4	1	1	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:17699701G>A	uc001bak.1	+	1	267	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	81					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGATGACATCGCCCAGCCCTT	0.602													A	17699701	G	A	17699701	2	1	115	1	0	0	0	0	0	0	0	1	11457	1074	38	1		1	PADI6	1	17699701	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08		17699701	231550920	1	7617											
NOTCH2	4853	broad.mit.edu	37	chr1	120539904	120539904	+	Frame_Shift_Del	DEL	C	C	-																															ccacagtggtacaggtacttCcatttgcacagggatgagac																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:120539904delC	uc001eik.3	-	3	764	c.467delG	c.(466-468)ggafs	p.G156fs	NOTCH2_uc001eil.3_Frame_Shift_Del_p.G156fs|NOTCH2_uc021osy.1_Frame_Shift_Del_p.G117fs|NOTCH2_uc001eim.4_Frame_Shift_Del_p.G73fs	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	156	EGF-like 4.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGGTACTTCCATTTGCACA	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				-	120539904	C	-	120539904	7	5	115	1	0	1	0	1	0	0	0	0	10624	855	30	0	7072	0	NOTCH2	1	120539904	Frame_Shift_Del	DEL	C	TCGA-12-0688-01A-02D-1492-08	102840203	120539904	128710717	2	7618											
HRNR	388697	broad.mit.edu	37	chr1	152193158	152193158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggctggaggagtgccccGaaccggacccatgtcggacg	7	5	16	13	5	0	0	0	0	0	0	1	5	0	4	4	5	2	1	4	5	1	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152193158G>A	uc001ezt.1	-	2	1023	c.947C>T	c.(946-948)tCg>tTg	p.S316L		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	316					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGTGCCCCGAACCGGACCC	0.607													A	152193158	G	A	152193158	3	1	115	1	0	0	0	0	1	0	0	0	7414	1059	37	1	7609	1	HRNR	1	152193158	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	31653254	152193158	97057463	3	7619											
IVL	3713	broad.mit.edu	37	chr1	152883944	152883944	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtccaagacattcaaccAgccctgcccacaaagggaga	14	4	9	14	0	1	2	1	0	0	2	2	3	2	2	4	2	3	0	4	2	3	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:152883944A>C	uc021ozl.1	+	0	1671	c.1671A>C	c.(1669-1671)ccA>ccC	p.P557P	IVL_uc001fau.3_Silent_p.P557P	NM_005547	NP_005538	P07476	INVO_HUMAN	Homo sapiens involucrin (IVL), mRNA.	557					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACATTCAACCAGCCCTGCCCA	0.587													C	152883944	A	C	152883944	2	2	115	1	0	0	0	0	0	0	0	1	7987	175	7	5		5	IVL	1	152883944	Silent	SNP	A	TCGA-12-0688-01A-02D-1492-08	690786	152883944	96366677	4	7620											
OR2T3	343173	broad.mit.edu	37	chr1	248636836	248636836	+	Frame_Shift_Del	DEL	C	C	-																															ctcagagccccgcctccacaCccccatgtacttcttcatca																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248636836delC	uc001iel.1	+	0	185	c.185delC	c.(184-186)accfs	p.T62fs		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CGCCTCCACACCCCCATGTAC	0.567													-	248636836	C	-	248636836	7	5	115	1	0	1	0	1	0	0	0	0	11099	507	18	0	187	0	OR2T3	1	248636836	Frame_Shift_Del	DEL	C	TCGA-12-0688-01A-02D-1492-08	95752892	248636836	613785	5	7621											
OR2T34	127068	broad.mit.edu	37	chr1	248737870	248737870	+	Frame_Shift_Del	DEL	G	G	-																															tggctgatgaagaagtacatGggggtgtggaggcggggctc																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248737870delG	uc001iep.1	-	0	189	c.189delC	c.(187-189)cccfs	p.P63fs		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGAAGTACATGGGGGTGTGGA	0.562													-	248737870	G	-	248737870	7	5	115	1	0	1	0	1	0	0	0	0	11101	1335	47	0	771	0	OR2T34	1	248737870	Frame_Shift_Del	DEL	G	TCGA-12-0688-01A-02D-1492-08	101034	248737870	512751	6	7622											
OR14I1	401994	broad.mit.edu	37	chr1	248845184	248845184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtggtgactgccatcTgatagcaccctcctgatgtc	7	10	11	13	0	1	3	0	3	1	0	3	3	2	3	4	2	2	1	4	2	1	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr1:248845184T>C	uc001ieu.1	-	0	422	c.422A>G	c.(421-423)cAg>cGg	p.Q141R		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GACTGCCATCTGATAGCACCC	0.542													C	248845184	T	C	248845184	3	2	115	1	0	0	0	0	1	0	0	0	11023	1580	55	3	517	3	OR14I1	1	248845184	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	107314	248845184	405437	7	7623											
VRK2	7444	broad.mit.edu	37	chr2	58373508	58373508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcacacaataggttaatcGaaaaaaaagtccacagtgag	19	6	9	7	1	0	1	0	1	0	0	2	2	1	1	1	2	0	2	1	2	7	2	rs139700760		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr2:58373508G>A	uc002rzo.2	+	14	1826	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	VRK2_uc010fcb.2_Missense_Mutation_p.E361K|VRK2_uc002rzt.3_Missense_Mutation_p.E243K|VRK2_uc002rzs.3_Missense_Mutation_p.E361K|VRK2_uc002rzv.3_Missense_Mutation_p.E361K|VRK2_uc010fcd.3_Missense_Mutation_p.E338K|VRK2_uc002rzu.3_Missense_Mutation_p.E361K|VRK2_uc010fcc.3_Missense_Mutation_p.E243K|VRK2_uc002rzp.3_Missense_Mutation_p.E361K|VRK2_uc010ypg.2_Missense_Mutation_p.E361K	NM_001130482	NP_001123954	Q86Y07	VRK2_HUMAN	Homo sapiens vaccinia related kinase 2 (VRK2), transcript variant 4, mRNA.	361						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TAGGTTAATCGAAAAAAAAGT	0.383													A	58373508	G	A	58373508	3	1	115	1	0	0	0	0	1	0	0	0	17322	1059	37	1	1123	1	VRK2	2	58373508	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		58373508	184825865	8	7624											
CBLB	868	broad.mit.edu	37	chr3	105400636	105400636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaccatgtgttccattcAgcatacagtgaccattatca	12	12	7	10	0	2	1	2	1	0	0	3	2	3	2	3	1	2	2	3	1	2	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:105400636A>G	uc003dwc.3	-	14	2550	c.2228T>C	c.(2227-2229)cTg>cCg	p.L743P	CBLB_uc003dwa.3_Missense_Mutation_p.L2P|CBLB_uc011bhi.2_Missense_Mutation_p.L765P|CBLB_uc003dwd.2_Missense_Mutation_p.L743P|CBLB_uc003dwe.2_Missense_Mutation_p.L743P	NM_170662	NP_733762	Q13191	CBLB_HUMAN	Homo sapiens Cas-Br-M (murine) ecotropic retroviral transforming sequence b (CBLB), mRNA.	743	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGTTCCATTCAGCATACAGTG	0.343			Mis S		AML								G	105400636	A	G	105400636	3	3	115	1	0	0	0	0	1	0	0	0	2727	188	7	3	740	3	CBLB	3	105400636	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		105400636	92621794	9	7625											
PHLDB2	90102	broad.mit.edu	37	chr3	111632481	111632481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagtgacctcacccggactCctccaccaccatcctccacc	8	7	4	22	1	2	1	2	1	0	0	6	2	6	2	9	1	0	0	9	1	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:111632481C>T	uc010hqa.3	+	2	2062	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S	PHLDB2_uc003dyc.3_Missense_Mutation_p.P578S|PHLDB2_uc003dyd.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyg.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyh.3_Missense_Mutation_p.P551S|PHLDB2_uc003dyi.3_Missense_Mutation_p.P137S|PHLDB2_uc003dyf.4_Missense_Mutation_p.P551S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	551						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						CACCCGGACTCCTCCACCACC	0.512													T	111632481	C	T	111632481	3	4	115	1	0	0	0	0	1	0	0	0	11929	855	30	2	1742	2	PHLDB2	3	111632481	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	6231845	111632481	86389949	10	7626											
CCDC48	79825	broad.mit.edu	37	chr3	128757682	128757682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctttttaagaacatatcGaaaagagccctggggaagat	14	12	9	6	1	1	3	0	0	1	3	2	5	1	4	1	2	2	0	1	2	6	5			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:128757682G>A	uc011bkt.2	+	6	1599	c.1599G>A	c.(1597-1599)tcG>tcA	p.S533S		NM_024768	NP_079044	Q9HA90	CCD48_HUMAN	Homo sapiens coiled-coil domain containing 48 (CCDC48), mRNA.	533										breast(1)|kidney(2)|lung(2)|skin(1)	6						AGAACATATCGAAAAGAGCCC	0.552													A	128757682	G	A	128757682	2	1	115	1	0	0	0	0	0	0	0	1	2847	1045	37	1		1	CCDC48	3	128757682	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	17125201	128757682	69264748	11	7627											
LRRC33	375387	broad.mit.edu	37	chr3	196388089	196388089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacatgggcctccactcCagctttatggcgttggactt	8	11	11	11	1	0	0	0	0	0	0	2	2	2	2	3	4	2	2	3	4	2	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr3:196388089C>T	uc003fwv.3	+	2	1679	c.1575C>T	c.(1573-1575)tcC>tcT	p.S525S		NM_198565	NP_940967	Q86YC3	LRC33_HUMAN	Homo sapiens leucine rich repeat containing 33 (LRRC33), mRNA.	525						integral to membrane				NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(6)|lung(17)|ovary(3)|prostate(3)	40	all_cancers(143;8.88e-09)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.9e-23)|all cancers(36;1.76e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00326)		GCCTCCACTCCAGCTTTATGG	0.567													T	196388089	C	T	196388089	2	4	115	1	0	0	0	0	0	0	0	1	9058	581	21	2		2	LRRC33	3	196388089	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	67630407	196388089	1634341	12	7628											
FGFBP2	83888	broad.mit.edu	37	chr4	15964315	15964315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgggcctcagagatggcgtCccagcctcaggctgctggtt	5	10	14	12	1	2	1	2	0	0	1	3	2	3	1	3	4	2	3	3	4	0	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:15964315C>T	uc003gon.3	-	0	545	c.438G>A	c.(436-438)ggG>ggA	p.G146G	FGFBP2_uc021xmm.1_Silent_p.G146G	NM_031950	NP_114156	Q9BYJ0	FGFP2_HUMAN	Homo sapiens fibroblast growth factor binding protein 2 (FGFBP2), mRNA.	146						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GAGATGGCGTCCCAGCCTCAG	0.617													T	15964315	C	T	15964315	2	4	115	1	0	0	0	0	0	0	0	1	5910	842	30	2		2	FGFBP2	4	15964315	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		15964315	175189961	13	7629											
STAP1	26228	broad.mit.edu	37	chr4	68449405	68449405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaaactactccatcactaTtcggcaggagatagagtatg	14	10	9	8	1	1	3	1	0	0	3	3	4	2	3	1	2	2	2	1	2	6	6			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:68449405T>C	uc003hde.4	+	5	726	c.644T>C	c.(643-645)aTt>aCt	p.I215T	STAP1_uc003hdf.3_Missense_Mutation_p.I215T	NM_012108	NP_036240	Q9ULZ2	STAP1_HUMAN	Homo sapiens signal transducing adaptor family member 1 (STAP1), mRNA.	215	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						TCCATCACTATTCGGCAGGAG	0.408													C	68449405	T	C	68449405	3	2	115	1	0	0	0	0	1	0	0	0	15348	1493	52	3	666	3	STAP1	4	68449405	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	52485090	68449405	122704871	14	7630											
PDHA2	5161	broad.mit.edu	37	chr4	96761326	96761326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgccttcatctcccgcGtgttgaggcgagttgcccag	4	10	13	14	4	2	1	1	1	1	0	3	2	2	1	4	2	1	2	4	2	0	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:96761326G>A	uc003htr.4	+	0	88	c.25G>A	c.(25-27)Gtg>Atg	p.V9M		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	9					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.R8R(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CATCTCCCGCGTGTTGAGGCG	0.557													A	96761326	G	A	96761326	3	1	115	1	0	0	0	0	1	0	0	0	11741	1145	40	1	27	1	PDHA2	4	96761326	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	28311921	96761326	94392950	15	7631											
EGF	1950	broad.mit.edu	37	chr4	110908980	110908980	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatgccacatgtcagtgtTtgaaaggatttgctggggat	10	12	14	5	0	1	1	1	1	0	0	1	4	1	4	1	4	2	2	1	4	1	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr4:110908980T>C	uc003hzy.4	+	16	3024	c.2572T>C	c.(2572-2574)Ttg>Ctg	p.L858L	EGF_uc011cfu.2_Silent_p.L816L|EGF_uc011cfv.2_Silent_p.L858L|EGF_uc010imk.3_Intron	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	858	EGF-like 6.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATGTCAGTGTTTGAAAGGATT	0.423													C	110908980	T	C	110908980	2	2	115	1	0	0	0	0	0	0	0	1	5001	1838	64	3		3	EGF	4	110908980	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08	14147654	110908980	80245296	16	7632											
SLC6A19	340024	broad.mit.edu	37	chr5	1217004	1217004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaacgcctccgaccccGcggcctacgcgcagctggtg	5	5	14	17	6	0	0	0	0	0	0	1	1	1	0	5	3	4	3	5	3	2	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:1217004G>A	uc003jbw.4	+	7	1173	c.1117G>A	c.(1117-1119)Gcg>Acg	p.A373T		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	373					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.P372P(1)|p.A373V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTCCGACCCCGCGGCCTACGC	0.622													A	1217004	G	A	1217004	3	1	115	1	0	0	0	0	1	0	0	0	14776	1087	38	1	1147	1	SLC6A19	5	1217004	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		1217004	179698256	17	7633											
PIK3R1	5295	broad.mit.edu	37	chr5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagtatcgagaaattgAcaaacgtatgaacagcatta	17	9	9	6	2	0	4	0	3	0	1	1	5	0	4	0	0	4	4	0	0	6	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:67591086A>G	uc003jva.3	+	12	2259	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_uc003jvc.3_Missense_Mutation_p.D260G|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290G|PIK3R1_uc003jve.3_Missense_Mutation_p.D239G|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197G|PIK3R1_uc011crb.2_Missense_Mutation_p.D230G	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(2)|p.R557_K561>Q(2)|p.0?(1)|p.?(1)|p.D560H(1)|p.R557_D560del(1)|p.I559V(1)|p.D560Y(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAAATTGACAAACGTATG	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591086	A	G	67591086	3	3	115	1	0	0	0	0	1	0	0	0	11995	275	10	3	1855	3	PIK3R1	5	67591086	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	66374082	67591086	113324174	18	7634											
GRIA1	2890	broad.mit.edu	37	chr5	153065877	153065877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattgaaatgaaacatgaCggcatccgaaaggtaaggtc	15	8	12	6	2	0	4	0	4	0	0	2	5	1	4	1	3	1	2	1	3	4	2	rs140876127		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:153065877C>T	uc011dcy.2	+	7	1179	c.1152C>T	c.(1150-1152)gaC>gaT	p.D384D	GRIA1_uc003lva.4_Silent_p.D374D|GRIA1_uc003luy.4_Silent_p.D374D|GRIA1_uc003luz.4_Silent_p.D279D|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Silent_p.D294D|GRIA1_uc011dcx.2_Silent_p.D305D|GRIA1_uc011dcz.2_Silent_p.D384D|GRIA1_uc010jia.1_Silent_p.D354D	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	374					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.D374D(2)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGAAACATGACGGCATCCGAA	0.502													T	153065877	C	T	153065877	2	4	115	1	0	0	0	0	0	0	0	1	6822	535	19	1		1	GRIA1	5	153065877	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	85474791	153065877	27849383	19	7635											
FLT4	2324	broad.mit.edu	37	chr5	180048603	180048603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgccggtcttgcacttcGcacacatagtggccctcgtg	5	10	11	15	4	1	0	0	0	1	0	3	0	1	0	2	2	2	2	2	2	1	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr5:180048603G>A	uc003mlz.4	-	12	2038	c.1959C>T	c.(1957-1959)tgC>tgT	p.C653C	FLT4_uc003mma.4_Silent_p.C653C|FLT4_uc003mmb.1_Silent_p.C186C|FLT4_uc011dgy.2_Silent_p.C653C	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	653	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGCACTTCGCACACATAGT	0.697													A	180048603	G	A	180048603	2	1	115	1	0	0	0	0	0	0	0	1	5993	1079	38	1		1	FLT4	5	180048603	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	26982726	180048603	866657	20	7636											
IRF4	3662	broad.mit.edu	37	chr6	397159	397159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaagctggagggactacGtcccggatcagccacacccg	10	4	12	15	4	1	0	1	0	0	0	2	4	2	3	4	3	3	1	4	3	2	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:397159G>A	uc003msz.4	+	4	670	c.544G>A	c.(544-546)Gtc>Atc	p.V182I	IRF4_uc010jne.2_Missense_Mutation_p.V182I|IRF4_uc003mtb.4_Missense_Mutation_p.V181I|IRF4_uc021ykl.1_Missense_Mutation_p.V28I|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.V12I	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	182					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GAGGGACTACGTCCCGGATCA	0.567			T	IGH@	MM								A	397159	G	A	397159	3	1	115	1	0	0	0	0	1	0	0	0	7890	1145	40	1	558	1	IRF4	6	397159	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		397159	170717908	21	7637											
OR10C1	442194	broad.mit.edu	37	chr6	29407979	29407979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctatgtacttcttcctgCgcaccctctcggccttggag	4	12	8	17	2	2	0	0	0	2	0	4	1	3	1	5	2	2	2	5	2	2	5			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:29407979C>T	uc011dlp.2	+	0	264	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCTTCCTGCGCACCCTCTC	0.572													T	29407979	C	T	29407979	3	4	115	1	0	0	0	0	1	0	0	0	10974	768	27	1	189	1	OR10C1	6	29407979	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	29010820	29407979	141707088	22	7638											
NFKBIE	4794	broad.mit.edu	37	chr6	44229489	44229489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccacatgaagggctgtgtCaccatgccggtcctgtagtg	7	9	14	11	1	1	1	1	1	0	0	2	1	2	1	4	3	1	2	4	3	2	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:44229489C>T	uc003oxe.1	-	2	1007	c.982G>A	c.(982-984)Gac>Aac	p.D328N		NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	328					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGGGCTGTGTCACCATGCCGG	0.652													T	44229489	C	T	44229489	3	4	115	1	0	0	0	0	1	0	0	0	10456	826	29	2	536	2	NFKBIE	6	44229489	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	14821510	44229489	126885578	23	7639											
FAM83B	222584	broad.mit.edu	37	chr6	54806091	54806091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaaaaaggggtctcagaaGttaaggtcattacttagcct	13	12	10	6	0	2	2	2	1	1	1	3	2	2	2	1	3	2	1	1	3	6	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:54806091G>A	uc003pck.3	+	4	2438	c.2322G>A	c.(2320-2322)aaG>aaA	p.K774K		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	774										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGTCTCAGAAGTTAAGGTCAT	0.363													A	54806091	G	A	54806091	2	1	115	1	0	0	0	0	0	0	0	1	5684	1020	36	2		2	FAM83B	6	54806091	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	10576602	54806091	116308976	24	7640											
LPA	4018	broad.mit.edu	37	chr6	161006177	161006177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtggtggagagtgtgcctCgataactctgtccatcacct	8	12	11	10	1	2	1	1	0	1	1	4	3	3	1	3	2	2	0	3	2	2	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr6:161006177C>T	uc003qtl.3	-	26	4310	c.4190G>A	c.(4189-4191)cGa>cAa	p.R1397Q		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3905	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GAGTGTGCCTCGATAACTCTG	0.468													T	161006177	C	T	161006177	3	4	115	1	0	0	0	0	1	0	0	0	8973	884	31	1	1988	1	LPA	6	161006177	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	106200086	161006177	10108890	25	7641											
SP4	6671	broad.mit.edu	37	chr7	21550871	21550871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactcccaatgtttcaaccaAcatggaagaattctgaaaag	17	9	6	9	0	2	2	1	1	1	1	3	3	3	3	2	1	3	1	2	1	8	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:21550871A>G	uc003sva.3	+	5	2520	c.2339A>G	c.(2338-2340)aAc>aGc	p.N780S	SP4_uc003svb.3_Missense_Mutation_p.N467S	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	780					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	p.N780N(1)|p.T779N(1)		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						GTTTCAACCAACATGGAAGAA	0.423													G	21550871	A	G	21550871	3	3	115	1	0	0	0	0	1	0	0	0	15060	43	2	3	2361	3	SP4	7	21550871	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		21550871	137587792	26	7642											
PDE1C	5137	broad.mit.edu	37	chr7	32091191	32091191	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgttttcttatatttccTcctgtaagaaaaggcataaa	13	14	7	7	1	1	1	0	0	1	1	3	2	3	2	2	2	0	3	2	2	7	7			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:32091191T>C	uc003tcm.2	-	2	563	c.102_splice	c.e2-1	p.L34_splice	PDE1C_uc003tcn.1_Splice_Site_p.L34_splice|PDE1C_uc003tco.2_Intron|PDE1C_uc003tcr.3_Splice_Site_p.L34_splice|PDE1C_uc003tcs.3_Splice_Site_p.L34_splice	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	34					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTATATTTCCTCCTGTAAGAA	0.468													C	32091191	T	C	32091191	3	2	115	1	0	0	0	0	1	0	0	0	11711	1565	54	3	1865	3	PDE1C	7	32091191	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	10540320	32091191	127047472	27	7643											
ASL	435	broad.mit.edu	37	chr7	65554649	65554649	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacactatgagtgccgtgctCcaggtggccactggcgtcat	7	9	13	12	2	1	1	1	1	0	0	2	2	2	1	3	3	2	1	3	3	1	1	rs140532520	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:65554649C>G	uc003tup.3	+	12	1264	c.1029C>G	c.(1027-1029)ctC>ctG	p.L343L	ASL_uc003tuo.3_Silent_p.L343L|ASL_uc003tur.3_Silent_p.L317L|ASL_uc003tuq.3_Silent_p.L323L	NM_001024943	NP_001020114	P04424	ARLY_HUMAN	Homo sapiens argininosuccinate lyase (ASL), transcript variant 1, mRNA.	343					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity	p.V342V(1)		breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGCCGTGCTCCAGGTGGCCA	0.637													G	65554649	C	G	65554649	2	3	115	1	0	0	0	0	0	0	0	1	1049	842	30	4		4	ASL	7	65554649	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	33463458	65554649	93584014	28	7644											
CNTNAP2	26047	broad.mit.edu	37	chr7	148112574	148112574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgatccggtacatgttcCgccacaagggcacctaccat	9	9	8	15	2	0	1	0	1	0	0	3	1	3	1	6	2	2	3	6	2	3	3	rs138661307		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr7:148112574C>T	uc003weu.2	+	23	4378	c.3862C>T	c.(3862-3864)Cgc>Tgc	p.R1288C	CNTNAP2_uc003wev.2_Missense_Mutation_p.R65C	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1288					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R1288S(2)|p.R1288C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTACATGTTCCGCCACAAGGG	0.567										HNSCC(39;0.1)			T	148112574	C	T	148112574	3	4	115	1	0	0	0	0	1	0	0	0	3678	652	23	1	3956	1	CNTNAP2	7	148112574	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	82557925	148112574	11026089	29	7645											
PXDNL	137902	broad.mit.edu	37	chr8	52321474	52321474	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagcctgggattcccgctCcgagctcccgtaaacgttgg	7	8	13	13	4	0	1	0	0	0	1	3	4	3	2	4	2	3	4	4	2	2	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:52321474C>A	uc003xqu.4	-	16	2811	c.2710G>T	c.(2710-2712)Gag>Tag	p.E904*	PXDNL_uc003xqt.4_Non-coding_Transcript	NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	904					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GATTCCCGCTCCGAGCTCCCG	0.592													A	52321474	C	A	52321474	4	1	115	1	0	0	0	0	0	1	0	0	12936	864	30	4	1709	4	PXDNL	8	52321474	Nonsense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		52321474	94042548	30	7646											
DCAF13	25879	broad.mit.edu	37	chr8	104452461	104452461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctgatgaaatgaacattCgcctgtggaaagctaatgct	13	11	10	7	1	1	3	0	3	1	0	2	5	1	4	1	1	3	2	1	1	4	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:104452461C>T	uc003yln.3	+	8	1781	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	DCAF13_uc003ylm.1_Missense_Mutation_p.R235C	NM_015420	NP_056235	Q9NV06	DCA13_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 13 (DCAF13), mRNA.	350					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		p.R502H(1)		NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AATGAACATTCGCCTGTGGAA	0.328													T	104452461	C	T	104452461	3	4	115	1	0	0	0	0	1	0	0	0	4300	884	31	1	1538	1	DCAF13	8	104452461	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	52130987	104452461	41911561	31	7647											
TIGD5	84948	broad.mit.edu	37	chr8	144681263	144681263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagctgcagacaccggatgGcgctgtgcgggtgctgttcc	5	8	17	11	3	0	1	0	0	0	1	1	3	1	3	2	4	4	5	2	4	0	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144681263G>A	uc003yyx.2	+	0	1190	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	EEF1D_uc011lki.2_5'Flank|EEF1D_uc003yyv.3_5'Flank|EEF1D_uc003yyu.3_5'Flank|EEF1D_uc011lkk.2_5'Flank|EEF1D_uc003yyt.3_5'Flank|EEF1D_uc003yyr.3_5'Flank|EEF1D_uc003yys.3_5'Flank|EEF1D_uc011lkl.2_5'Flank	NM_032862	NP_116251	E7EWS2	E7EWS2_HUMAN	Homo sapiens tigger transposable element derived 5 (TIGD5), mRNA.	397					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ACACCGGATGGCGCTGTGCGG	0.692													A	144681263	G	A	144681263	3	1	115	1	0	0	0	0	1	0	0	0	15999	1203	42	2	1192	2	TIGD5	8	144681263	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	40228802	144681263	1682759	32	7648											
FAM83H	286077	broad.mit.edu	37	chr8	144808805	144808805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggccttcggggactccccGgagatggtaagggtgaggct	6	7	17	11	3	0	2	0	1	0	1	2	4	1	3	4	7	0	2	4	7	1	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr8:144808805G>A	uc003yzk.3	-	4	2895	c.2826C>T	c.(2824-2826)tcC>tcT	p.S942S		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	942					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GGGACTCCCCGGAGATGGTAA	0.736													A	144808805	G	A	144808805	2	1	115	1	0	0	0	0	0	0	0	1	5690	1103	39	1		1	FAM83H	8	144808805	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	127542	144808805	1555217	33	7649											
FAM75A3	727830	broad.mit.edu	37	chr9	40702725	40702725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accccccaggtgaggtgggcGaaagagcacctgatggagcc	10	4	15	12	1	0	3	0	2	0	1	0	5	0	4	5	4	2	1	5	4	1	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:40702725G>A	uc010mmj.3	+	3	411	c.382G>A	c.(382-384)Gaa>Aaa	p.E128K		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	128	Pro-rich.					integral to membrane		p.E128*(3)		kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TGAGGTGGGCGAAAGAGCACC	0.602													A	40702725	G	A	40702725	3	1	115	1	0	0	0	0	1	0	0	0	5671	1059	37	1	396	1	FAM75A3	9	40702725	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		40702725	100510706	34	7650											
TRPM3	80036	broad.mit.edu	37	chr9	73399100	73399100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacagacaaccactggcaCgggaggggtgtctcgaaggt	11	6	14	10	2	2	1	1	0	1	1	3	3	2	2	1	5	1	1	1	5	2	0	rs141951214	byFrequency	TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:73399100C>T	uc004aid.3	-	6	1313	c.1069G>A	c.(1069-1071)Gtg>Atg	p.V357M	TRPM3_uc004ahu.3_Missense_Mutation_p.V187M|TRPM3_uc004ahv.3_Missense_Mutation_p.V187M|TRPM3_uc004ahw.3_Missense_Mutation_p.V229M|TRPM3_uc004ahx.3_Missense_Mutation_p.V204M|TRPM3_uc004ahy.3_Missense_Mutation_p.V229M|TRPM3_uc004ahz.3_Missense_Mutation_p.V204M|TRPM3_uc004aia.3_Missense_Mutation_p.V204M|TRPM3_uc004aib.3_Missense_Mutation_p.V204M|TRPM3_uc004aic.3_Missense_Mutation_p.V357M|TRPM3_uc010mor.3_Missense_Mutation_p.V357M|TRPM3_uc004aie.3_Missense_Mutation_p.V204M|TRPM3_uc004aif.3_Missense_Mutation_p.V229M|TRPM3_uc004aig.3_Missense_Mutation_p.V204M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	382						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ACCACTGGCACGGGAGGGGTG	0.547													T	73399100	C	T	73399100	3	4	115	1	0	0	0	0	1	0	0	0	16688	536	19	1	4174	1	TRPM3	9	73399100	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	32696375	73399100	67814331	35	7651											
ROR2	4920	broad.mit.edu	37	chr9	94486082	94486082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccatcttctggggcgttCtgtgtgtcatcagcgccctc	3	12	11	15	2	5	0	2	0	3	0	6	0	5	0	3	2	1	1	3	2	0	2	rs141070315		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:94486082C>T	uc004arj.2	-	8	2893	c.2694G>A	c.(2692-2694)caG>caA	p.Q898Q	ROR2_uc004ari.1_Intron	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	898					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGGCGTTCTGTGTGTCAT	0.637													T	94486082	C	T	94486082	2	4	115	1	0	0	0	0	0	0	0	1	13618	912	32	2		2	ROR2	9	94486082	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	21086982	94486082	46727349	36	7652											
OR1L1	26737	broad.mit.edu	37	chr9	125424265	125424265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttatcagagacaaagAccatctcttacagtgagtgt	13	12	7	9	0	3	3	1	1	2	2	4	4	3	3	1	0	1	0	1	0	3	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:125424265A>G	uc022bmz.1	+	0	271	c.271A>G	c.(271-273)Acc>Gcc	p.T91A		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AGAGACAAAGACCATCTCTTA	0.433													G	125424265	A	G	125424265	3	3	115	1	0	0	0	0	1	0	0	0	11039	275	10	3	273	3	OR1L1	9	125424265	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	30938183	125424265	15789166	37	7653											
EXD3	54932	broad.mit.edu	37	chr9	140201420	140201420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaagggactgctggcCgggctgggggctgggctcgg	4	6	20	11	2	1	1	1	0	0	1	2	2	1	2	2	7	1	4	2	7	1	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr9:140201420C>T	uc004cmp.2	-	21	2809	c.2613G>A	c.(2611-2613)ccG>ccA	p.P871P	EXD3_uc010ncf.1_Silent_p.P509P	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	871					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GACTGCTGGCCGGGCTGGGGG	0.652													T	140201420	C	T	140201420	2	4	115	1	0	0	0	0	0	0	0	1	5340	639	23	1		1	EXD3	9	140201420	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	14777155	140201420	1012011	38	7654											
MS4A3	932	broad.mit.edu	37	chr11	59828736	59828736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaatacttctgtctacCagcccatagatggatcacca	12	10	7	12	0	3	2	1	1	2	1	3	3	3	3	3	1	4	1	3	1	4	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:59828736C>A	uc001nom.3	+	1	231	c.103C>A	c.(103-105)Cag>Aag	p.Q35K	MS4A3_uc001non.3_Missense_Mutation_p.Q35K|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	35				Q -> H (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TTCTGTCTACCAGCCCATAGA	0.473													A	59828736	C	A	59828736	3	1	115	1	0	0	0	0	1	0	0	0	9937	595	21	4	105	4	MS4A3	11	59828736	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		59828736	75177780	39	7655											
SLC22A6	9356	broad.mit.edu	37	chr11	62749352	62749352	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaaaaggcgcagagacCagtagctgcaggtggcgcca	14	3	14	10	2	0	1	0	0	0	1	0	2	0	1	2	3	2	5	2	3	4	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:62749352C>A	uc001nwk.3	-	3	1092	c.759G>T	c.(757-759)ctG>ctT	p.L253L	SLC22A6_uc001nwl.3_Silent_p.L253L|SLC22A6_uc001nwj.3_Silent_p.L253L|SLC22A6_uc001nwm.3_Silent_p.L253L	NM_004790	NP_004781	Q4U2R8	S22A6_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 6 (SLC22A6), transcript variant 1, mRNA.	253					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						GCGCAGAGACCAGTAGCTGCA	0.617													A	62749352	C	A	62749352	2	1	115	1	0	0	0	0	0	0	0	1	14552	581	21	4		4	SLC22A6	11	62749352	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	2920616	62749352	72257164	40	7656											
MMP13	4322	broad.mit.edu	37	chr11	102825250	102825250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtctggtaaaattcagagGagttacatcggaccaaactt	15	10	9	7	1	2	1	1	0	1	1	3	3	2	3	1	3	2	2	1	3	5	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr11:102825250G>A	uc001phl.3	-	2	477	c.448C>T	c.(448-450)Cct>Tct	p.P150S		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	150					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		AAATTCAGAGGAGTTACATCG	0.343													A	102825250	G	A	102825250	3	1	115	1	0	0	0	0	1	0	0	0	9727	1174	41	2	999	2	MMP13	11	102825250	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	40075898	102825250	32181266	41	7657											
GPRC5A	9052	broad.mit.edu	37	chr12	13061399	13061399	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctactcagtttctcttcctCctgggtgtgttgggcatctt	3	17	9	12	0	3	0	1	0	2	0	6	0	5	0	3	2	1	3	3	2	1	5			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:13061399C>T	uc001rba.3	+	1	866	c.216C>T	c.(214-216)ctC>ctT	p.L72L		NM_003979	NP_003970	Q8NFJ5	RAI3_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 5, member A (GPRC5A), mRNA.	72						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	TTCTCTTCCTCCTGGGTGTGT	0.557													T	13061399	C	T	13061399	2	4	115	1	0	0	0	0	0	0	0	1	6779	842	30	2		2	GPRC5A	12	13061399	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		13061399	120790496	42	7658											
ATF7IP	55729	broad.mit.edu	37	chr12	14599967	14599967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaagcagccaaagaaGatcttaagaaaagacatgaa	19	7	9	6	0	1	6	0	2	1	4	1	6	1	6	1	0	2	2	1	0	7	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr12:14599967G>T	uc001rbw.3	+	5	2133	c.1975G>T	c.(1975-1977)Gat>Tat	p.D659Y	ATF7IP_uc010shs.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbu.3_Missense_Mutation_p.D659Y|ATF7IP_uc001rbv.1_Missense_Mutation_p.D658Y|ATF7IP_uc001rbx.3_Missense_Mutation_p.D658Y|ATF7IP_uc010sht.1_Missense_Mutation_p.D659Y|ATF7IP_uc001rby.4_Missense_Mutation_p.D659Y|ATF7IP_uc001rca.3_Missense_Mutation_p.D659Y	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	659	Interaction with SETDB1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AGCCAAAGAAGATCTTAAGAA	0.308													T	14599967	G	T	14599967	3	4	115	1	0	0	0	0	1	0	0	0	1092	942	33	4	1993	4	ATF7IP	12	14599967	Missense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08	1538568	14599967	119251928	43	7659											
SYNE2	23224	broad.mit.edu	37	chr14	64634098	64634098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacggccacggcactggagCgctgcaggttagaacatccc	9	5	12	15	3	0	1	0	0	0	1	1	2	1	2	3	4	3	4	3	4	2	1			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr14:64634098C>T	uc001xgl.3	+	90	16983	c.16753C>T	c.(16753-16755)Cgc>Tgc	p.R5585C	SYNE2_uc001xgm.3_Missense_Mutation_p.R5585C|SYNE2_uc010apy.3_Missense_Mutation_p.R1970C|SYNE2_uc001xgn.3_Missense_Mutation_p.R547C|SYNE2_uc021rui.1_Missense_Mutation_p.R505C|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_5'UTR|SYNE2_uc001xgq.3_5'Flank	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	5585					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCACTGGAGCGCTGCAGGTT	0.478													T	64634098	C	T	64634098	3	4	115	1	0	0	0	0	1	0	0	0	15543	768	27	1	17111	1	SYNE2	14	64634098	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08		64634098	42715442	44	7660											
WDR72	256764	broad.mit.edu	37	chr15	53889439	53889439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgttgttgaacttcCgccaagagaacagcttgtat	10	14	9	8	1	1	2	1	1	0	1	2	3	2	2	2	0	3	4	2	0	4	6			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr15:53889439C>T	uc002acj.2	-	17	3027	c.2985G>A	c.(2983-2985)gcG>gcA	p.A995A		NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	995										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		GTTGAACTTCCGCCAAGAGAA	0.378													T	53889439	C	T	53889439	2	4	115	1	0	0	0	0	0	0	0	1	17424	639	23	1		1	WDR72	15	53889439	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		53889439	48641953	45	7661											
C16orf53	79447	broad.mit.edu	37	chr16	29827999	29828009	+	Frame_Shift_Del	DEL	AGGAGGCCGAG	AGGAGGCCGAG	-																															aaggccgaggacgagggggaAggaggccgagaggagaccga																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:29827999_29828009delAGGAGGCCGAG	uc002dug.4	+	0	472_482	c.153_163delAGGAGGCCGAG	c.(151-165)gaaggaggccgagagfs	p.E51fs	BOLA2_uc010bzb.1_Intron	NM_024516	NP_078792	Q9BTK6	PA1_HUMAN	Homo sapiens chromosome 16 open reading frame 53 (C16orf53), mRNA.	51	Glu-rich.									kidney(1)|lung(1)|prostate(1)	3						ACGAGGGGGAAGGAGGCCGAGAGGAGACCGA	0.697											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	29828009	AGGAGGCCGAG	-	29827999	7	5	115	1	0	1	0	1	0	0	0	0	1832	69	3	0	155	0	C16orf53	16	29827999	Frame_Shift_Del	DEL	AGGAGGCCGAG	TCGA-12-0688-01A-02D-1492-08		29827999	60526754	46	7662											
FAM65A	79567	broad.mit.edu	37	chr16	67572596	67572596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcccggtcttcagcccGccggggcccccacggaagcc	5	6	12	18	4	2	0	1	0	1	0	3	1	3	1	6	4	2	1	6	4	1	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr16:67572596G>A	uc010vjp.2	+	2	372	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM65A_uc010cei.2_5'UTR|FAM65A_uc002eth.3_Silent_p.P42P|FAM65A_uc010cej.3_Silent_p.P46P|FAM65A_uc002eti.2_Intron|FAM65A_uc010vjq.2_Silent_p.P56P|FAM65A_uc002etj.1_Silent_p.P41P|FAM65A_uc002etk.3_Silent_p.P41P	NM_001193523	NP_078795	Q6ZS17	FA65A_HUMAN	Homo sapiens family with sequence similarity 65, member A (FAM65A), transcript variant 3, mRNA.	46						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		TCTTCAGCCCGCCGGGGCCCC	0.682													A	67572596	G	A	67572596	2	1	115	1	0	0	0	0	0	0	0	1	5649	1074	38	1		1	FAM65A	16	67572596	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	37744597	67572596	22782157	47	7663											
LRRC37B	114659	broad.mit.edu	37	chr17	30348508	30348508	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctggggccagagccgttcTtggctgcacatcaggactta	7	9	12	13	1	2	1	1	0	1	1	2	2	2	2	3	4	2	3	3	4	1	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:30348508T>C	uc002hgu.3	+	0	354	c.343T>C	c.(343-345)Ttg>Ctg	p.L115L	LRRC37B_uc010wbx.2_Silent_p.L33L|LRRC37B_uc010csu.3_Silent_p.L115L	NM_052888	NP_443120	Q96QE4	LR37B_HUMAN	Homo sapiens leucine rich repeat containing 37B (LRRC37B), mRNA.	115						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AGAGCCGTTCTTGGCTGCACA	0.547													C	30348508	T	C	30348508	2	2	115	1	0	0	0	0	0	0	0	1	9064	1606	56	3		3	LRRC37B	17	30348508	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08		30348508	50846702	48	7664											
G6PC3	92579	broad.mit.edu	37	chr17	42152338	42152338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctctcttctttctagcCgctgggtaagggtgatgcct	4	15	11	11	1	3	1	0	1	3	0	4	1	3	1	3	2	3	2	3	2	2	5			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr17:42152338C>A	uc002iex.3	+	4	653	c.417_splice	c.e4-1	p.S139_splice	G6PC3_uc002iey.3_Splice_Site_p.S14_splice|G6PC3_uc002iez.3_Splice_Site_p.S14_splice	NM_138387	NP_612396	Q9BUM1	G6PC3_HUMAN	Homo sapiens glucose 6 phosphatase, catalytic, 3 (G6PC3), transcript variant 1, mRNA.	139					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCTTTCTAGCCGCTGGGTAAG	0.542													A	42152338	C	A	42152338	3	1	115	1	0	0	0	0	1	0	0	0	6197	666	23	4	432	4	G6PC3	17	42152338	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	11803830	42152338	39042872	49	7665											
RALBP1	10928	broad.mit.edu	37	chr18	9516893	9516893	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctggagatgaggcagaaAgtccttctaaaatgaagagg	14	8	13	6	0	2	5	0	2	2	3	3	6	3	5	1	3	0	2	1	3	4	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:9516893A>G	uc002kob.3	+	2	518	c.295A>G	c.(295-297)Agt>Ggt	p.S99G	RALBP1_uc002koc.3_Missense_Mutation_p.S99G	NM_006788	NP_006779	Q15311	RBP1_HUMAN	Homo sapiens ralA binding protein 1 (RALBP1), mRNA.	99					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						TGAGGCAGAAAGTCCTTCTAA	0.373													G	9516893	A	G	9516893	3	3	115	1	0	0	0	0	1	0	0	0	13100	72	3	3	301	3	RALBP1	18	9516893	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08		9516893	68560355	50	7666											
PTPN2	5771	broad.mit.edu	37	chr18	12794472	12794472	+	Frame_Shift_Del	DEL	T	T	-																															tttctgtcctctcgaatacgTttccgtagagcactatgagg																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:12794472delT	uc002krp.3	-	8	1247	c.1053delA	c.(1051-1053)aaafs	p.K351fs	PTPN2_uc002krn.3_Frame_Shift_Del_p.K374fs|PTPN2_uc002krl.3_Frame_Shift_Del_p.K351fs|PTPN2_uc002krm.3_Intron	NM_002828	NP_002819	P17706	PTN2_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 2 (PTPN2), transcript variant 1, mRNA.	351					interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				CTCGAATACGTTTCCGTAGAG	0.428													-	12794472	T	-	12794472	7	5	115	1	0	1	0	1	0	0	0	0	12871	1722	60	0	224	0	PTPN2	18	12794472	Frame_Shift_Del	DEL	T	TCGA-12-0688-01A-02D-1492-08	3277579	12794472	65282776	51	7667											
GATA6	2627	broad.mit.edu	37	chr18	19762971	19762971	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagatgattgcagcaaaaaTacttcccccacaacacaacc	16	7	4	14	0	1	2	1	1	0	1	2	2	2	2	3	0	5	2	3	0	5	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:19762971T>A	uc002ktt.1	+	5	1852	c.1587T>A	c.(1585-1587)aaT>aaA	p.N529K	GATA6_uc002ktu.1_Missense_Mutation_p.N529K	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	529					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCAGCAAAAATACTTCCCCCA	0.373													A	19762971	T	A	19762971	3	1	115	1	0	0	0	0	1	0	0	0	6312	1403	49	5	1605	5	GATA6	18	19762971	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08	6968499	19762971	58314277	52	7668											
CDH2	1000	broad.mit.edu	37	chr18	25591942	25591942	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaacactatttcttcAacttctgctgactcctttac	8	16	5	12	0	3	1	1	1	2	0	4	2	4	2	1	1	4	1	1	1	4	7			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr18:25591942A>C	uc002kwg.2	-	3	873	c.414T>G	c.(412-414)gtT>gtG	p.V138V	CDH2_uc010xbn.1_Silent_p.V107V	NM_001792	NP_001783	P19022	CADH2_HUMAN	Homo sapiens cadherin 2, type 1, N-cadherin (neuronal) (CDH2), mRNA.	138					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATTTCTTCAACTTCTGCTG	0.388													C	25591942	A	C	25591942	2	2	115	1	0	0	0	0	0	0	0	1	3135	117	5	5		5	CDH2	18	25591942	Silent	SNP	A	TCGA-12-0688-01A-02D-1492-08	5828971	25591942	52485306	53	7669											
SBNO2	22904	broad.mit.edu	37	chr19	1113547	1113547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctccgccacccgcTgggggccgcccagctggtcg	4	4	12	21	4	0	0	0	0	0	0	2	0	1	0	7	3	1	2	7	3	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:1113547T>C	uc002lrk.4	-	18	2472	c.2234A>G	c.(2233-2235)cAg>cGg	p.Q745R	SBNO2_uc002lrj.4_Missense_Mutation_p.Q688R|SBNO2_uc010dse.3_Missense_Mutation_p.Q728R	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	745					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CGCCACCCGCTGGGGGCCGCC	0.697													C	1113547	T	C	1113547	3	2	115	1	0	0	0	0	1	0	0	0	13955	1580	55	3	1922	3	SBNO2	19	1113547	Missense_Mutation	SNP	T	TCGA-12-0688-01A-02D-1492-08		1113547	58015436	54	7670											
ZNF554	115196	broad.mit.edu	37	chr19	2833912	2833912	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggatttggggaaaatggtAatctgagcccagcccttgtt	10	12	12	7	0	1	1	0	1	1	0	1	3	1	3	2	4	2	2	2	4	3	4			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:2833912A>T	uc002lwm.2	+	4	877	c.679A>T	c.(679-681)Aat>Tat	p.N227Y	ZNF554_uc002lwl.2_Missense_Mutation_p.N176Y	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		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)		GGAAAATGGTAATCTGAGCCC	0.502													T	2833912	A	T	2833912	3	4	115	1	0	0	0	0	1	0	0	0	18086	362	13	5	697	5	ZNF554	19	2833912	Missense_Mutation	SNP	A	TCGA-12-0688-01A-02D-1492-08	1720365	2833912	56295071	55	7671											
C19orf71	100128569	broad.mit.edu	37	chr19	3543251	3543252	+	Frame_Shift_Del	DEL	GG	GG	-																															agcgatgactacctgtccctGgagggttcccgctggccacc																										TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:3543251_3543252delGG	uc010xhm.2	+	1	123_124	c.102_103delGG	c.(100-105)ctggagfs	p.L34fs	MFSD12_uc002lxw.3_Intron|MFSD12_uc002lxx.3_Intron	NM_001135580	NP_001129052	A6NCJ1	CS071_HUMAN	Homo sapiens chromosome 19 open reading frame 71 (C19orf71), mRNA.	34										endometrium(2)	2						ACCTGTCCCTGGAGGGTTCCCG	0.644													-	3543252	GG	-	3543251	7	5	115	1	0	1	0	1	0	0	0	0	1967	1335	47	0	108	0	C19orf71	19	3543251	Frame_Shift_Del	DEL	GG	TCGA-12-0688-01A-02D-1492-08	709339	3543251	55585732	56	7672											
MCOLN1	57192	broad.mit.edu	37	chr19	7591685	7591685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcactgggccggtatgcGtatgtccgtggtgggggtga	4	11	19	7	3	1	1	1	1	0	0	2	1	2	1	2	5	1	2	2	5	2	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7591685G>A	uc002mgo.3	+	3	585	c.444G>A	c.(442-444)gcG>gcA	p.A148A	MCOLN1_uc002mgp.3_Missense_Mutation_p.R35H	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	148					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCCGGTATGCGTATGTCCGTG	0.657													A	7591685	G	A	7591685	2	1	115	1	0	0	0	0	0	0	0	1	9470	1132	40	1		1	MCOLN1	19	7591685	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	4048434	7591685	51537298	57	7673											
CLEC4M	10332	broad.mit.edu	37	chr19	7832494	7832494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgtggcaatgggtggaCggctcacctctgtcacccag	7	7	14	13	2	3	0	2	0	1	0	3	1	3	1	2	5	0	3	2	5	1	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:7832494C>T	uc010dvt.3	+	5	1147	c.1029C>T	c.(1027-1029)gaC>gaT	p.D343D	CLEC4M_uc002mhy.2_3'UTR|CLEC4M_uc002mih.3_Silent_p.D320D|CLEC4M_uc010xjw.2_Silent_p.D276D|CLEC4M_uc010dvs.3_Silent_p.D319D|CLEC4M_uc010xjx.2_Silent_p.D292D|CLEC4M_uc002mhz.3_Intron|CLEC4M_uc002mic.3_Intron|CLEC4M_uc002mia.3_Silent_p.D207D	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	343	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						AATGGGTGGACGGCTCACCTC	0.562													T	7832494	C	T	7832494	2	4	115	1	0	0	0	0	0	0	0	1	3549	535	19	1		1	CLEC4M	19	7832494	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	240809	7832494	51296489	58	7674											
CYP4F12	66002	broad.mit.edu	37	chr19	15795890	15795890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaggccatgacaccaCggccagtggcctctcctggg	6	7	11	17	1	2	1	1	1	1	0	4	1	3	1	6	4	0	0	6	4	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:15795890C>T	uc002nbl.3	+	8	1117	c.998C>T	c.(997-999)aCg>aTg	p.T333M		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CATGACACCACGGCCAGTGGC	0.627													T	15795890	C	T	15795890	3	4	115	1	0	0	0	0	1	0	0	0	4220	536	19	1	1028	1	CYP4F12	19	15795890	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	7963396	15795890	43333093	59	7675											
SBSN	374897	broad.mit.edu	37	chr19	36019170	36019170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcaggagccgaccagaCgtgcaagatgcatattgctg	11	6	15	9	2	0	2	0	0	0	2	0	5	0	4	2	2	5	4	2	2	2	2	rs138249808		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:36019170C>T	uc002oad.2	-	0	84	c.14G>A	c.(13-15)cGt>cAt	p.R5H	SBSN_uc002oae.2_Missense_Mutation_p.R5H|SBSN_uc021usp.1_Missense_Mutation_p.R5H	NM_001166034	NP_001159506	Q6UWP8	SBSN_HUMAN	Homo sapiens suprabasin (SBSN), transcript variant 1, mRNA.	5						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCCGACCAGACGTGCAAGATG	0.587													T	36019170	C	T	36019170	3	4	115	1	0	0	0	0	1	0	0	0	13956	536	19	1	1774	1	SBSN	19	36019170	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	20223280	36019170	23109813	60	7676											
FCGBP	8857	broad.mit.edu	37	chr19	40380305	40380305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcaggtgcccatgaagtcGaagcggtggccatcgaaggt	10	6	15	10	4	0	1	0	1	0	0	2	3	0	1	2	4	2	1	2	4	3	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40380305G>A	uc002omp.4	-	22	11018	c.11010C>T	c.(11008-11010)ttC>ttT	p.F3670F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3670	VWFD 9.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGTGGC	0.672													A	40380305	G	A	40380305	2	1	115	1	0	0	0	0	0	0	0	1	5827	1049	37	1		1	FCGBP	19	40380305	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	4361135	40380305	18748678	61	7677											
PRX	57716	broad.mit.edu	37	chr19	40902798	40902798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctggaagccgcacctcCggcacagccatctctggcac	8	6	9	18	2	2	0	0	0	2	0	4	1	3	1	5	3	2	3	5	3	1	0	rs140474860		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr19:40902798C>T	uc002onr.3	-	6	1730	c.1461G>A	c.(1459-1461)ccG>ccA	p.P487P	PRX_uc002onq.3_Silent_p.P348P|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	487	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.P487L(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCGCACCTCCGGCACAGCCA	0.597													T	40902798	C	T	40902798	2	4	115	1	0	0	0	0	0	0	0	1	12727	639	23	1		1	PRX	19	40902798	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08	522493	40902798	18226185	62	7678											
RPN2	6185	broad.mit.edu	37	chr20	35835810	35835810	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagttgtggttgtgccTgagggctctgcttccgacac	4	12	14	11	1	1	1	0	1	1	0	2	2	2	1	3	2	3	4	3	2	0	3			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:35835810T>C	uc002xgp.3	+	6	1129	c.825T>C	c.(823-825)ccT>ccC	p.P275P	RPN2_uc010gfw.2_Silent_p.P118P|RPN2_uc002xgq.3_Silent_p.P243P|RPN2_uc021wdb.1_Silent_p.P57P	NM_002951	NP_002942	P04844	RPN2_HUMAN	Homo sapiens ribophorin II (RPN2), transcript variant 1, mRNA.	275					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.V274E(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TGGTTGTGCCTGAGGGCTCTG	0.537													C	35835810	T	C	35835810	2	2	115	1	0	0	0	0	0	0	0	1	13699	1567	55	3		3	RPN2	20	35835810	Silent	SNP	T	TCGA-12-0688-01A-02D-1492-08		35835810	27189710	63	7679											
SLC13A3	64849	broad.mit.edu	37	chr20	45194937	45194937	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaactcagtgaagaaggcGatgaccacagtgatgagcag	15	5	13	8	1	1	5	1	4	0	1	1	6	1	5	1	1	2	2	1	1	3	0	rs147641404		TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:45194937G>A	uc002xsf.2	-	10	1465	c.1425C>T	c.(1423-1425)atC>atT	p.I475I	SLC13A3_uc010ghn.2_Silent_p.I444I|SLC13A3_uc010zxx.2_Silent_p.I377I|SLC13A3_uc010zxw.2_Silent_p.I425I|SLC13A3_uc002xsg.2_Silent_p.I428I|SLC13A3_uc010gho.2_Silent_p.I393I|SLC13A3_uc002xse.2_5'Flank|SLC13A3_uc010ghm.2_Silent_p.I62I|SLC13A3_uc010zxv.2_Silent_p.I60I	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	475						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	TGAAGAAGGCGATGACCACAG	0.617													A	45194937	G	A	45194937	2	1	115	1	0	0	0	0	0	0	0	1	14487	1048	37	1		1	SLC13A3	20	45194937	Silent	SNP	G	TCGA-12-0688-01A-02D-1492-08	9359127	45194937	17830583	64	7680											
KCNG1	3755	broad.mit.edu	37	chr20	49626233	49626233	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgcggcctctccaccatgtCgcgcagtcgccgcatgcagc	5	7	12	17	5	1	0	0	0	1	0	4	0	1	0	4	1	3	3	4	1	0	0			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr20:49626233C>G	uc002xwa.4	-	1	938	c.643G>C	c.(643-645)Gac>Cac	p.D215H	KCNG1_uc002xwb.3_Missense_Mutation_p.D215H	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	215						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						TCCACCATGTCGCGCAGTCGC	0.726													G	49626233	C	G	49626233	3	3	115	1	0	0	0	0	1	0	0	0	8085	884	31	4	906	4	KCNG1	20	49626233	Missense_Mutation	SNP	C	TCGA-12-0688-01A-02D-1492-08	4431296	49626233	13399287	65	7681											
COL6A2	1292	broad.mit.edu	37	chr21	47532419	47532419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcacgagctctaccgcaaCgactacgccaccatgctgcc	9	5	8	19	5	1	0	0	0	1	0	1	2	1	0	5	0	6	4	5	0	3	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chr21:47532419C>T	uc002zia.1	+	2	724	c.642C>T	c.(640-642)aaC>aaT	p.N214N	COL6A2_uc002zhz.1_Silent_p.N214N|COL6A2_uc002zhy.1_Silent_p.N214N	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	214	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		TCTACCGCAACGACTACGCCA	0.667													T	47532419	C	T	47532419	2	4	115	1	0	0	0	0	0	0	0	1	3731	535	19	1		1	COL6A2	21	47532419	Silent	SNP	C	TCGA-12-0688-01A-02D-1492-08		47532419	597476	66	7682											
FGF13	2258	broad.mit.edu	37	chrX	137785220	137785220	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttggatagccaccactcGcagacccacagggatgaggt	10	7	11	13	1	0	2	0	1	0	1	2	4	1	4	4	3	1	1	4	3	1	2			TCGA-12-0688-01A-02D-1492-08	TCGA-12-0688-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	143dc738-1694-4105-8115-9cc0902ef35b	634c7656-b172-4d88-a5a6-18389bc6dffe	g.chrX:137785220G>A	uc004fam.3	-	2	990	c.328C>T	c.(328-330)Cga>Tga	p.R110*	FGF13_uc004fan.3_Nonsense_Mutation_p.R57*|FGF13_uc011mwi.2_Nonsense_Mutation_p.R91*|FGF13_uc004faq.3_Nonsense_Mutation_p.R120*|FGF13_uc004far.3_Nonsense_Mutation_p.R91*|FGF13_uc011mwj.2_Nonsense_Mutation_p.R120*|FGF13_uc011mwk.2_Nonsense_Mutation_p.R64*	NM_004114	NP_004105	Q92913	FGF13_HUMAN	Homo sapiens fibroblast growth factor 13 (FGF13), transcript variant 1, mRNA.	110					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity	p.R110L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					GCCACCACTCGCAGACCCACA	0.408													A	137785220	G	A	137785220	4	1	115	1	0	0	0	0	0	1	0	0	5891	1095	38	1	421	1	FGF13	23	137785220	Nonsense_Mutation	SNP	G	TCGA-12-0688-01A-02D-1492-08		137785220	17485340	67	7683											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309242	1309242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggcttcctttagccccGccttcagccagatgcgcctc	4	9	11	17	3	1	1	1	0	0	1	3	1	2	1	6	2	3	1	6	2	1	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:1309242G>A	uc001afb.1	-	2	649	c.539C>T	c.(538-540)gCg>gTg	p.A180V	AURKAIP1_uc001afc.2_Missense_Mutation_p.A180V|AURKAIP1_uc009vkb.1_Missense_Mutation_p.A180V|AURKAIP1_uc001afd.2_Missense_Mutation_p.A180V	NM_017900	NP_060370	Q9NWT8	AKIP_HUMAN	Homo sapiens aurora kinase A interacting protein 1 (AURKAIP1), transcript variant 1, mRNA.	180					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTTAGCCCCGCCTTCAGCCA	0.597													A	1309242	G	A	1309242	3	1	116	1	0	0	0	0	1	0	0	0	1227	1087	38	1	64	1	AURKAIP1	1	1309242	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		1309242	247941379	1	7684											
DIRAS3	9077	broad.mit.edu	37	chr1	68512685	68512685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgtggcgctgcagagcgCggttgccgtcgccactcttg	5	9	14	13	6	1	1	0	0	1	1	2	1	1	1	2	2	4	3	2	2	1	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:68512685C>G	uc021ooq.1	-	0	296	c.296G>C	c.(295-297)cGc>cCc	p.R99P	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|DIRAS3_uc001ded.3_Missense_Mutation_p.R99P	NM_004675	NP_004666	O95661	DIRA3_HUMAN	Homo sapiens DIRAS family, GTP-binding RAS-like 3 (DIRAS3), mRNA.	99					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R99H(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTGCAGAGCGCGGTTGCCGTC	0.587													G	68512685	C	G	68512685	3	3	116	1	0	0	0	0	1	0	0	0	4571	768	27	4	397	4	DIRAS3	1	68512685	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	67203443	68512685	180737936	2	7685											
GON4L	54856	broad.mit.edu	37	chr1	155792117	155792117	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgctgttagattgtgcTgcttggcaccatcctccaag	7	13	10	11	0	0	2	0	1	0	1	2	2	2	2	3	1	3	5	3	1	2	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:155792117T>G	uc001flz.2	-	3	945	c.848A>C	c.(847-849)cAg>cCg	p.Q283P	GON4L_uc001fly.1_Missense_Mutation_p.Q283P|GON4L_uc009wrh.1_Missense_Mutation_p.Q283P|GON4L_uc001fma.1_Missense_Mutation_p.Q283P|GON4L_uc001fmc.3_Missense_Mutation_p.Q283P|GON4L_uc001fmd.4_Missense_Mutation_p.Q283P|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.Q111P|GON4L_uc001fmf.3_5'Flank	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	283					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TAGATTGTGCTGCTTGGCACC	0.458													G	155792117	T	G	155792117	3	3	116	1	0	0	0	0	1	0	0	0	6625	1580	55	5	6107	5	GON4L	1	155792117	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08	87279432	155792117	93458504	3	7686											
OLFML2B	25903	broad.mit.edu	37	chr1	161993080	161993080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcctggttgtccgcctcGttttgcagagtctcgtcctc	2	16	9	14	3	2	1	0	0	2	1	8	1	4	1	4	1	1	3	4	1	0	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:161993080G>A	uc010pkq.2	-	0	565	c.141C>T	c.(139-141)aaC>aaT	p.N47N	OLFML2B_uc001gbu.3_Silent_p.N47N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	47										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGTCCGCCTCGTTTTGCAGAG	0.602													A	161993080	G	A	161993080	2	1	116	1	0	0	0	0	0	0	0	1	10934	1136	40	1		1	OLFML2B	1	161993080	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	6200963	161993080	87257541	4	7687											
SMG7	9887	broad.mit.edu	37	chr1	183514093	183514093	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccccaacatatgttatcccCccgcctgtggcattttctat	7	13	5	16	1	1	0	0	0	1	0	2	0	2	0	6	1	1	2	6	1	4	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:183514093C>T	uc001gqg.3	+	15	2266	c.2016C>T	c.(2014-2016)ccC>ccT	p.P672P	SMG7_uc010pob.2_Silent_p.P655P|SMG7_uc021pga.1_Silent_p.P584P|SMG7_uc001gqf.3_Silent_p.P626P|SMG7_uc001gqh.3_Silent_p.P626P|SMG7_uc010poc.2_Silent_p.P630P	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	672	Gln/Pro-rich.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						ATGTTATCCCCCCGCCTGTGG	0.443													T	183514093	C	T	183514093	2	4	116	1	0	0	0	0	0	0	0	1	14892	610	22	2		2	SMG7	1	183514093	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	21521013	183514093	65736528	5	7688											
FAM129A	116496	broad.mit.edu	37	chr1	184787863	184787863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtacacgtacttcactgaatCccgagctcactggtcccatg	9	10	8	14	2	2	1	2	1	0	0	4	2	4	1	2	1	3	3	2	1	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:184787863C>T	uc001gra.3	-	8	1276	c.1082G>A	c.(1081-1083)gGa>gAa	p.G361E	FAM129A_uc001grb.1_Missense_Mutation_p.G124E|FAM129A_uc009wyh.1_Missense_Mutation_p.G189E|FAM129A_uc009wyi.1_Missense_Mutation_p.G159E	NM_052966	NP_443198	Q9BZQ8	NIBAN_HUMAN	Homo sapiens family with sequence similarity 129, member A (FAM129A), transcript variant 2, mRNA.	361					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		p.S360*(1)		autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TTCACTGAATCCCGAGCTCAC	0.537													T	184787863	C	T	184787863	3	4	116	1	0	0	0	0	1	0	0	0	5481	855	30	2	1728	2	FAM129A	1	184787863	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	1273770	184787863	64462758	6	7689											
CFH	10877	broad.mit.edu	37	chr1	196884097	196884097	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttcagattcttcagaaAagtgtgggcctcctccacct	8	15	7	11	0	3	2	2	0	1	2	5	2	5	2	4	1	0	0	4	1	2	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:196884097A>C	uc001gtp.3	+	8	1506	c.1369A>C	c.(1369-1371)Aag>Cag	p.K457Q	CFH_uc021pgt.1_Missense_Mutation_p.K80Q|CFH_uc009wyy.3_Missense_Mutation_p.K456Q|CFH_uc001gto.3_Missense_Mutation_p.K210Q	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	810	Sushi 8.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCTTCAGAAAAGTGTGGGCC	0.358													C	196884097	A	C	196884097	3	2	116	1	0	0	0	0	1	0	0	0	3313	15	1	5		5	CFH	1	196884097	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	12096234	196884097	52366524	7	7690											
HIST3H3	8290	broad.mit.edu	37	chr1	228612870	228612870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggacttctggtagcggcGgatctcgcgaagcgccaccg	7	7	15	12	6	2	0	0	0	2	0	3	3	2	2	2	4	2	1	2	4	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr1:228612870G>A	uc001hsx.1	-	0	157	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C		NM_003493	NP_003484	Q16695	H31T_HUMAN	Homo sapiens histone cluster 3, H3 (HIST3H3), mRNA.	53					nucleosome assembly|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			large_intestine(1)|lung(2)|prostate(2)|skin(1)	6		Prostate(94;0.0724)				TGGTAGCGGCGGATCTCGCGA	0.652													A	228612870	G	A	228612870	3	1	116	1	0	0	0	0	1	0	0	0	7239	1116	39	1	257	1	HIST3H3	1	228612870	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	31728773	228612870	20637751	8	7691											
DPP10	57628	broad.mit.edu	37	chr2	116593731	116593731	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatatatttttcccccccAgggttatggtggctatattg	8	17	8	8	0	0	0	0	0	0	0	1	0	1	0	3	3	0	2	3	3	7	10			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:116593731A>G	uc002tle.3	+	22	1984	c.1963_splice	c.e22-2	p.G655_splice	DPP10_uc002tla.2_Splice_Site_p.G651_splice|DPP10_uc002tlb.2_Splice_Site_p.G601_splice|DPP10_uc002tlc.2_Splice_Site_p.G647_splice|DPP10_uc002tlf.2_Splice_Site_p.G644_splice	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	651					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTCCCCCCCAGGGTTATGGT	0.333													G	116593731	A	G	116593731	5	3	116	1	0	0	0	0	0	0	1	0	4766	202	7	3	2206	3	DPP10	2	116593731	Splice_Site	SNP	A	TCGA-12-0692-01A-01W-0348-08		116593731	126605642	9	7692											
RBM45	129831	broad.mit.edu	37	chr2	178990756	178990756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgtgtcaggaaaaaaTgtggggtatgccaagtatgc	12	11	12	6	0	1	0	1	0	0	0	1	1	1	1	2	3	3	2	2	3	7	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:178990756T>C	uc002ulv.3	+	8	1370	c.1278T>C	c.(1276-1278)aaT>aaC	p.N426N		NM_152945	NP_694453	Q8IUH3	RBM45_HUMAN	Homo sapiens RNA binding motif protein 45 (RBM45), mRNA.	428	RRM 3.				cell differentiation|nervous system development	cytoplasm|nucleus	nucleotide binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.00957)|all cancers(119;0.037)			CAGGAAAAAATGTGGGGTATG	0.383													C	178990756	T	C	178990756	2	2	116	1	0	0	0	0	0	0	0	1	13227	1461	51	3		3	RBM45	2	178990756	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08	62397025	178990756	64208617	10	7693											
ZDBF2	57683	broad.mit.edu	37	chr2	207169709	207169709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcccttggagtttgttCataaaattggggccagtgtg	9	12	13	7	0	1	0	1	0	0	0	1	1	1	1	2	3	2	3	2	3	2	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:207169709C>T	uc002vbp.2	+	4	707	c.457C>T	c.(457-459)Cat>Tat	p.H153Y		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	153							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAGTTTGTTCATAAAATTGG	0.448													T	207169709	C	T	207169709	3	4	116	1	0	0	0	0	1	0	0	0	17700	826	29	2	467	2	ZDBF2	2	207169709	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	28178953	207169709	36029664	11	7694											
BARD1	580	broad.mit.edu	37	chr2	215609857	215609857	+	Frame_Shift_Del	DEL	C	C	-																															cttcaaggtactttgaactgCatcaccaggaacaacaacat																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr2:215609857delC	uc002veu.2	-	8	1972	c.1837delG	c.(1837-1839)gcafs	p.A613fs	BARD1_uc021vwe.1_Frame_Shift_Del_p.A594fs|BARD1_uc021vwf.1_Frame_Shift_Del_p.A516fs|BARD1_uc021vwg.1_Frame_Shift_Del_p.A162fs|BARD1_uc021vwh.1_Frame_Shift_Del_p.A143fs|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Frame_Shift_Del_p.A179fs|BARD1_uc010zjm.1_Frame_Shift_Del_p.A469fs	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	613	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTTTGAACTGCATCACCAGGA	0.338									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				-	215609857	C	-	215609857	7	5	116	1	0	1	0	1	0	0	0	0	1317	710	25	0	508	0	BARD1	2	215609857	Frame_Shift_Del	DEL	C	TCGA-12-0692-01A-01W-0348-08	8440148	215609857	27589516	12	7695											
XIRP1	165904	broad.mit.edu	37	chr3	39225931	39225931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatggagataaatgttgggGaggagggagaatctcggctg	11	8	19	3	1	1	2	0	0	1	2	2	7	1	5	0	7	0	2	0	7	3	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:39225931G>T	uc003cjk.2	-	1	5235	c.5006C>A	c.(5005-5007)tCc>tAc	p.S1669Y	XIRP1_uc003cji.3_3'UTR|XIRP1_uc003cjj.3_Missense_Mutation_p.S352Y|XIRP1_uc021wvz.1_Missense_Mutation_p.S1669Y	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	1669							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AAATGTTGGGGAGGAGGGAGA	0.537													T	39225931	G	T	39225931	3	4	116	1	0	0	0	0	1	0	0	0	17531	1174	41	4	529	4	XIRP1	3	39225931	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		39225931	158796499	13	7696											
KALRN	8997	broad.mit.edu	37	chr3	124053259	124053259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttacatcaccagcgaCggctggagagcatctggcag	10	7	14	10	2	2	1	1	0	1	1	2	3	2	1	1	4	3	4	1	4	1	1	rs147539685		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:124053259C>T	uc003ehg.3	+	8	1685	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	KALRN_uc010hrv.1_Missense_Mutation_p.R520W|KALRN_uc003ehf.1_Missense_Mutation_p.R520W|KALRN_uc011bjy.1_Missense_Mutation_p.R520W	NM_001024660	NP_001019831	O60229	KALRN_HUMAN	Homo sapiens kalirin, RhoGEF kinase (KALRN), transcript variant 1, mRNA.	520					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCACCAGCGACGGCTGGAGAG	0.622													T	124053259	C	T	124053259	3	4	116	1	0	0	0	0	1	0	0	0	8033	527	19	1	1592	1	KALRN	3	124053259	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	84827328	124053259	73969171	14	7697											
MSL2	55167	broad.mit.edu	37	chr3	135870091	135870091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgtgacatttattacActggtgctggtactagcgtt	8	14	10	9	1	0	1	0	1	0	0	0	2	0	1	1	2	4	3	1	2	4	6			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr3:135870091A>T	uc003eqx.1	-	1	2365	c.1632T>A	c.(1630-1632)agT>agA	p.S544R	MSL2_uc011bmb.1_Missense_Mutation_p.S470R|MSL2_uc021xel.1_Missense_Mutation_p.S470R	NM_018133	NP_001138889	Q9HCI7	MSL2_HUMAN	Homo sapiens male-specific lethal 2 homolog (Drosophila) (MSL2), transcript variant 1, mRNA.	544					histone H4-K16 acetylation	MSL complex	zinc ion binding	p.S544I(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						CATTTATTACACTGGTGCTGG	0.468													T	135870091	A	T	135870091	3	4	116	1	0	0	0	0	1	0	0	0	9954	156	6	5	105	5	MSL2	3	135870091	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	11816832	135870091	62152339	15	7698											
AFM	173	broad.mit.edu	37	chr4	74361147	74361147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggttgttaccgttacGcggtaggttccattgttgta	6	15	11	9	3	0	0	0	0	0	0	2	0	2	0	3	3	2	7	3	3	4	8			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:74361147G>A	uc003hhb.3	+	8	1220	c.1189G>A	c.(1189-1191)Gcg>Acg	p.A397T		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	397	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTACCGTTACGCGGTAGGTTC	0.378													A	74361147	G	A	74361147	3	1	116	1	0	0	0	0	1	0	0	0	361	1087	38	1	1223	1	AFM	4	74361147	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		74361147	116793129	16	7699											
GRID2	2895	broad.mit.edu	37	chr4	94316790	94316790	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgtcacaggtctgaaTgggtcactgactgacaagaa	13	9	10	9	0	3	4	2	3	1	1	4	4	4	4	1	2	0	0	1	2	4	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:94316790T>G	uc011cdt.2	+	8	1536	c.1278T>G	c.(1276-1278)aaT>aaG	p.N426K	GRID2_uc011cdu.2_Missense_Mutation_p.N331K	NM_001510	NP_001501	O43424	GRID2_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 2 (GRID2), mRNA.	426					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CAGGTCTGAATGGGTCACTGA	0.433													G	94316790	T	G	94316790	3	3	116	1	0	0	0	0	1	0	0	0	6827	1461	51	5	1312	5	GRID2	4	94316790	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08	19955643	94316790	96837486	17	7700											
ADAM29	11086	broad.mit.edu	37	chr4	175898213	175898213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggatttttggtgcaggcGcaaatactgcaagtgagact	11	10	14	6	1	0	1	0	1	0	1	0	4	0	3	0	4	3	3	0	4	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:175898213G>A	uc003iuc.3	+	4	2207	c.1537G>A	c.(1537-1539)Gca>Aca	p.A513T	ADAM29_uc003iud.3_Missense_Mutation_p.A513T|ADAM29_uc010irr.3_Missense_Mutation_p.A513T|ADAM29_uc011cki.2_Missense_Mutation_p.A513T|ADAM29_uc021xuo.1_Missense_Mutation_p.A513T	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	513	Cys-rich.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.A513T(4)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TGGTGCAGGCGCAAATACTGC	0.418													A	175898213	G	A	175898213	3	1	116	1	0	0	0	0	1	0	0	0	247	1087	38	1	1539	1	ADAM29	4	175898213	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	81581423	175898213	15256063	18	7701											
TRIML1	339976	broad.mit.edu	37	chr4	189060967	189060967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagctccggtcccaggtGctgcagagcgaggatgagca	9	5	16	11	2	0	2	0	1	0	1	2	4	2	3	2	4	5	5	2	4	0	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr4:189060967G>A	uc003izm.1	+	0	370	c.255G>A	c.(253-255)gtG>gtA	p.V85V		NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	85					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGTCCCAGGTGCTGCAGAGCG	0.652													A	189060967	G	A	189060967	2	1	116	1	0	0	0	0	0	0	0	1	16651	1306	46	2		2	TRIML1	4	189060967	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	13162754	189060967	2093309	19	7702											
PCDHGC5	8641	broad.mit.edu	37	chr5	140769313	140769313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcctggggctgcgcaCgggcgaagtgcgcacagcgc	6	5	16	14	5	1	0	1	0	0	0	1	1	1	0	1	3	4	3	1	3	1	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:140769313C>T	uc003lkc.2	+	0	1862	c.1862C>T	c.(1861-1863)aCg>aTg	p.T621M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	625	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCGCACGGGCGAAGTG	0.692													T	140769313	C	T	140769313	3	4	116	1	0	0	0	0	1	0	0	0	11647	536	19	1		1	PCDHGC5	5	140769313	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		140769313	40145947	20	7703											
ATP10B	23120	broad.mit.edu	37	chr5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccatgatggtgcaaCgtcggaacaccatcttgttc	8	10	10	13	3	1	1	0	1	1	0	3	2	1	2	2	2	4	3	2	2	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr5:160061402C>T	uc003lym.1	-	11	2187	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	ATP10B_uc003lyp.2_Missense_Mutation_p.R447H|ATP10B_uc011deg.1_Missense_Mutation_p.R491H|ATP10B_uc003lyn.3_Missense_Mutation_p.R5H|ATP10B_uc003lyo.2_Missense_Mutation_p.R419H	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	447					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R447C(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507													T	160061402	C	T	160061402	3	4	116	1	0	0	0	0	1	0	0	0	1122	536	19	1	3105	1	ATP10B	5	160061402	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	19292089	160061402	20853858	21	7704											
DEFB114	245928	broad.mit.edu	37	chr6	49928111	49928111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagacagtctcttttacaaCgaccgtaacgtttggtgcaa	12	11	8	10	3	1	1	0	0	1	1	2	2	1	1	1	1	4	3	1	1	5	4	rs146020038		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:49928111C>T	uc011dwp.2	-	1	104	c.104G>A	c.(103-105)cGt>cAt	p.R35H		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	35					defense response to bacterium	extracellular region				kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TCTTTTACAACGACCGTAACG	0.353													T	49928111	C	T	49928111	3	4	116	1	0	0	0	0	1	0	0	0	4441	536	19	1	108	1	DEFB114	6	49928111	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		49928111	121186956	22	7705											
CD109	135228	broad.mit.edu	37	chr6	74475666	74475666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattaggtgaaggtaactcGtgctgatggcaaccaactga	12	9	11	9	1	0	3	0	3	0	0	1	3	0	3	2	3	4	3	2	3	5	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:74475666G>A	uc003php.3	+	10	1552	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	CD109_uc003phq.3_Missense_Mutation_p.R374H|CD109_uc010kba.3_Missense_Mutation_p.R297H	NM_133493	NP_598000	Q6YHK3	CD109_HUMAN	Homo sapiens CD109 molecule (CD109), transcript variant 1, mRNA.	374						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAGGTAACTCGTGCTGATGGC	0.358													A	74475666	G	A	74475666	3	1	116	1	0	0	0	0	1	0	0	0	2993	1145	40	1	1163	1	CD109	6	74475666	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	24547555	74475666	96639401	23	7706											
TTLL2	83887	broad.mit.edu	37	chr6	167754816	167754816	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgtggtggagaaagctgtGagtgtgcgtcctgaagctgc	7	11	16	7	1	1	3	0	2	1	1	2	4	2	3	1	2	4	2	1	2	2	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr6:167754816G>C	uc003qvs.1	+	2	1516	c.1428G>C	c.(1426-1428)gtG>gtC	p.V476V		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	476					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		AGAAAGCTGTGAGTGTGCGTC	0.512													C	167754816	G	C	167754816	2	2	116	1	0	0	0	0	0	0	0	1	16829	1277	45	4		4	TTLL2	6	167754816	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	93279150	167754816	3360251	24	7707											
PRKAR1B	5575	broad.mit.edu	37	chr7	618975	618975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaactggacgggctccagcGcatccgccacggtcagacgc	9	4	12	16	5	1	1	1	0	0	1	3	2	3	2	3	3	2	2	3	3	1	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:618975G>A	uc003siu.2	-	8	942	c.809C>T	c.(808-810)gCg>gTg	p.A270V	PRKAR1B_uc021zyi.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siv.3_Missense_Mutation_p.A270V|PRKAR1B_uc021zyj.1_Missense_Mutation_p.A270V|PRKAR1B_uc021zyk.1_Missense_Mutation_p.A270V|PRKAR1B_uc003siw.2_Missense_Mutation_p.A270V|PRKAR1B_uc003six.1_Non-coding_Transcript	NM_002735	NP_002726	P31321	KAP1_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type I, beta (PRKAR1B), transcript variant 2, mRNA.	270				A -> R (in Ref. 1; AAC37564).	activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGCTCCAGCGCATCCGCCAC	0.612													A	618975	G	A	618975	3	1	116	1	0	0	0	0	1	0	0	0	12590	1087	38	1	348	1	PRKAR1B	7	618975	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		618975	158519688	25	7708											
NUPL2	11097	broad.mit.edu	37	chr7	23239787	23239787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgttgttgttgtttgtagGctttccagtcaataacagca	8	17	10	6	0	1	0	1	0	0	0	2	0	2	0	1	1	2	8	1	1	3	8			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23239787G>A	uc003svu.3	+	7	954	c.695_splice	c.e7-1	p.G232_splice	NUPL2_uc003svv.3_Splice_Site|NUPL2_uc011jyw.2_Splice_Site|NUPL2_uc011jyx.2_Splice_Site_p.G4_splice	NM_007342	NP_031368	O15504	NUPL2_HUMAN	Homo sapiens nucleoporin like 2 (NUPL2), mRNA.	232					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ttgttTGTAGGCTTTCCAGTC	0.353													A	23239787	G	A	23239787	3	1	116	1	0	0	0	0	1	0	0	0	10851	1217	42	2	721	2	NUPL2	7	23239787	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	22620812	23239787	135898876	26	7709											
STK31	56164	broad.mit.edu	37	chr7	23825130	23825130	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttacaatgagcttggaaCgagatcttcttgatgctgag	10	13	10	8	1	2	4	0	3	2	1	3	6	3	5	1	1	4	2	1	1	3	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:23825130C>T	uc003sws.4	+	17	2249	c.2182C>T	c.(2182-2184)Cga>Tga	p.R728*	STK31_uc003swt.4_Nonsense_Mutation_p.R705*|STK31_uc011jze.2_Nonsense_Mutation_p.R728*|STK31_uc010kuq.3_Nonsense_Mutation_p.R705*|STK31_uc003swv.1_5'Flank	NM_031414	NP_116562	Q9BXU1	STK31_HUMAN	Homo sapiens serine/threonine kinase 31 (STK31), transcript variant 1, mRNA.	728	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity	p.R728*(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GAGCTTGGAACGAGATCTTCT	0.403													T	23825130	C	T	23825130	4	4	116	1	0	0	0	0	0	1	0	0	15392	528	19	1	2252	1	STK31	7	23825130	Nonsense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	585343	23825130	135313533	27	7710											
WNT2	7472	broad.mit.edu	37	chr7	116960726	116960726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgtccactcggccaCgccctggctaatggcacgca	6	9	10	16	3	1	0	0	0	1	0	3	0	2	0	3	3	1	4	3	3	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:116960726C>T	uc003viz.3	-	1	505	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	WNT2_uc003vja.3_5'UTR	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	69					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity	p.G68D(1)		breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CACTCGGCCACGCCCTGGCTA	0.602													T	116960726	C	T	116960726	3	4	116	1	0	0	0	0	1	0	0	0	17488	536	19	1	893	1	WNT2	7	116960726	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	93135596	116960726	42177937	28	7711											
MGAM	8972	broad.mit.edu	37	chr7	141759386	141759386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggctgatgggatgcggGtcatcctcattctggttagt	7	13	14	7	1	3	2	2	2	1	0	4	3	4	3	1	4	1	2	1	4	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr7:141759386G>A	uc003vwy.3	+	31	3988	c.3934G>A	c.(3934-3936)Gtc>Atc	p.V1312I		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1312	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGGGATGCGGGTCATCCTCAT	0.507													A	141759386	G	A	141759386	3	1	116	1	0	0	0	0	1	0	0	0	9616	1261	44	2	4056	2	MGAM	7	141759386	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	24798660	141759386	17379277	29	7712											
STC1	6781	broad.mit.edu	37	chr8	23709003	23709003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaccttggaggtgaccccGttggcgatgcattttaagct	9	11	12	9	2	0	2	0	1	0	1	0	4	0	3	3	3	2	3	3	3	2	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:23709003G>A	uc003xdw.1	-	2	587	c.303C>T	c.(301-303)aaC>aaT	p.N101N		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	101					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.A100V(1)|p.A100T(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGTGACCCCGTTGGCGATGC	0.517													A	23709003	G	A	23709003	2	1	116	1	0	0	0	0	0	0	0	1	15371	1136	40	1		1	STC1	8	23709003	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08		23709003	122655019	30	7713											
UNC5D	137970	broad.mit.edu	37	chr8	35407016	35407016	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acgtctctgaagagactctgGacgagagctcaggtaggagc	11	7	14	9	2	3	3	1	1	2	2	4	7	3	5	0	3	2	2	0	3	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:35407016G>C	uc003xjr.2	+	1	638	c.310G>C	c.(310-312)Gac>Cac	p.D104H	UNC5D_uc003xjs.2_Missense_Mutation_p.D99H	NM_080872	NP_543148	Q6UXZ4	UNC5D_HUMAN	Homo sapiens unc-5 homolog D (C. elegans) (UNC5D), mRNA.	104	Ig-like.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AGAGACTCTGGACGAGAGCTC	0.522													C	35407016	G	C	35407016	3	2	116	1	0	0	0	0	1	0	0	0	17097	1174	41	4	316	4	UNC5D	8	35407016	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	11698013	35407016	110957006	31	7714											
PTDSS1	9791	broad.mit.edu	37	chr8	97285591	97285591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttattttcttctttcttAtcatcagtgtgttagctttc	5	23	5	8	0	5	0	2	0	3	0	6	0	5	0	0	0	1	3	0	0	3	8			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr8:97285591A>G	uc003yht.1	+	1	346	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PTDSS1_uc003yhu.1_5'UTR	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	82					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	CTTCTTTCTTATCATCAGTGT	0.373													G	97285591	A	G	97285591	3	3	116	1	0	0	0	0	1	0	0	0	12821	449	16	3	250	3	PTDSS1	8	97285591	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	61878575	97285591	49078431	32	7715											
TEK	7010	broad.mit.edu	37	chr9	27217701	27217701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggaaggctcccagtgCgctggatggccatcgagtca	8	7	14	12	2	1	0	1	0	0	0	4	3	3	2	3	4	1	2	3	4	1	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:27217701C>T	uc011lno.2	+	17	3320	c.2878C>T	c.(2878-2880)Cgc>Tgc	p.R960C	TEK_uc003zqi.4_Missense_Mutation_p.R1003C|TEK_uc011lnp.2_Missense_Mutation_p.R855C	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	1003	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GCTCCCAGTGCGCTGGATGGC	0.483													T	27217701	C	T	27217701	3	4	116	1	0	0	0	0	1	0	0	0	15851	768	27	1	3081	1	TEK	9	27217701	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		27217701	113995730	33	7716											
ZNF618	114991	broad.mit.edu	37	chr9	116811355	116811355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggacattcgcgacagCggtgaccttgtgcaccactg	7	8	14	12	4	0	1	0	1	0	0	1	3	0	2	2	3	3	1	2	3	0	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:116811355C>T	uc004bid.3	+	14	1872	c.1773C>T	c.(1771-1773)agC>agT	p.S591S	ZNF618_uc004bic.3_Silent_p.S498S|ZNF618_uc011lxi.2_Silent_p.S558S|ZNF618_uc011lxj.2_Silent_p.S559S|ZNF618_uc010mvb.3_Silent_p.S181S	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCGCGACAGCGGTGACCTTG	0.592													T	116811355	C	T	116811355	2	4	116	1	0	0	0	0	0	0	0	1	18143	767	27	1		1	ZNF618	9	116811355	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	89593654	116811355	24402076	34	7717											
RABGAP1	23637	broad.mit.edu	37	chr9	125748579	125748579	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttacttaggctgtgcctcGgtaaatgctcccaggagtga	9	11	11	10	1	0	1	0	1	0	0	2	2	1	2	2	3	3	3	2	3	4	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:125748579G>T	uc011lzh.2	+	3	605	c.471G>T	c.(469-471)tcG>tcT	p.S157S	RABGAP1_uc004bnl.4_Non-coding_Transcript|RABGAP1_uc004bnm.1_Silent_p.S157S	NM_012197	NP_036329	Q9Y3P9	RBGP1_HUMAN	Homo sapiens RAB GTPase activating protein 1 (RABGAP1), mRNA.	157	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						GCTGTGCCTCGGTAAATGCTC	0.453													T	125748579	G	T	125748579	2	4	116	1	0	0	0	0	0	0	0	1	13052	1103	39	4		4	RABGAP1	9	125748579	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	8937224	125748579	15464852	35	7718											
CAMSAP1	157922	broad.mit.edu	37	chr9	138714648	138714648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctagacacgatgctcctcGgtctcccttccccccgttca	5	11	6	19	3	2	1	1	0	1	1	7	2	5	1	6	1	1	2	6	1	1	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr9:138714648G>A	uc004cgr.4	-	10	1859	c.1859C>T	c.(1858-1860)cCg>cTg	p.P620L	CAMSAP1_uc004cgq.4_Missense_Mutation_p.P510L|CAMSAP1_uc010nbg.3_Missense_Mutation_p.P342L	NM_015447	NP_056262	Q5T5Y3	CAMP1_HUMAN	Homo sapiens calmodulin regulated spectrin-associated protein 1 (CAMSAP1), mRNA.	620						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GATGCTCCTCGGTCTCCCTTC	0.542													A	138714648	G	A	138714648	3	1	116	1	0	0	0	0	1	0	0	0	2637	1116	39	1	2977	1	CAMSAP1	9	138714648	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	12966069	138714648	2498783	36	7719											
CCAR1	55749	broad.mit.edu	37	chr10	70496806	70496806	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagctgcattacaacagGtaaatctttaatatgtctta	14	13	6	8	0	2	0	0	0	2	0	2	0	2	0	0	1	5	4	0	1	7	6			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:70496806G>C	uc001joo.3	+	3	365	c.246_splice	c.e3+1	p.Q82_splice	CCAR1_uc001jol.1_Splice_Site|CCAR1_uc001jom.1_Splice_Site|CCAR1_uc009xpx.1_Splice_Site_p.Q82_splice|CCAR1_uc001jon.1_Splice_Site_p.A72_splice|CCAR1_uc010qiz.1_Splice_Site_p.Q82_splice|CCAR1_uc010qja.1_Splice_Site_p.Q82_splice|CCAR1_uc010qjb.2_Splice_Site	NM_018237	NP_060707	Q8IX12	CCAR1_HUMAN	Homo sapiens cell division cycle and apoptosis regulator 1 (CCAR1), mRNA.	82					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						ATTACAACAGGTAAATCTTTA	0.393													C	70496806	G	C	70496806	5	2	116	1	0	0	0	0	0	0	1	0	2756	1275	44	4	253	4	CCAR1	10	70496806	Splice_Site	SNP	G	TCGA-12-0692-01A-01W-0348-08		70496806	65037941	37	7720											
CRTAC1	55118	broad.mit.edu	37	chr10	99664517	99664517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtccactttgccatcaCggttgaagtcagccagggcg	8	9	12	12	3	2	1	2	1	0	0	3	2	3	1	3	2	2	1	3	2	1	2	rs149424033		TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr10:99664517C>T	uc001kou.2	-	6	1261	c.905G>A	c.(904-906)cGt>cAt	p.R302H	CRTAC1_uc001kov.3_Missense_Mutation_p.R302H|CRTAC1_uc001kot.2_Missense_Mutation_p.R92H	NM_018058	NP_060528	Q9NQ79	CRAC1_HUMAN	Homo sapiens cartilage acidic protein 1 (CRTAC1), transcript variant 1, mRNA.	302						proteinaceous extracellular matrix	calcium ion binding	p.R302H(2)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		TTTGCCATCACGGTTGAAGTC	0.617													T	99664517	C	T	99664517	3	4	116	1	0	0	0	0	1	0	0	0	3927	536	19	1	1116	1	CRTAC1	10	99664517	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	29167711	99664517	35870230	38	7721											
RHOG	391	broad.mit.edu	37	chr11	3849147	3849147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatgacgaaaacgttggtCtgagggtaggagagtgtacg	12	8	16	5	3	1	4	0	2	1	2	1	6	1	4	0	3	2	3	0	3	4	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:3849147C>T	uc021qcn.1	-	0	222	c.222G>A	c.(220-222)caG>caA	p.Q74Q	RHOG_uc001lyu.2_Silent_p.Q74Q	NM_001665	NP_001656	P84095	RHOG_HUMAN	Homo sapiens ras homolog gene family, member G (rho G) (RHOG), mRNA.	74					actin cytoskeleton organization|activation of Rac GTPase activity|axon guidance|cell chemotaxis|platelet activation|positive regulation of cell proliferation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of transcription, DNA-dependent|Rac protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(2)	2		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0349)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAACGTTGGTCTGAGGGTAGG	0.602													T	3849147	C	T	3849147	2	4	116	1	0	0	0	0	0	0	0	1	13428	912	32	2		2	RHOG	11	3849147	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08		3849147	131157369	39	7722											
OR51F1	256892	broad.mit.edu	37	chr11	4790709	4790709	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtgtaatcatcagaagacCcatttgaatgattctggaat	14	12	8	7	1	3	4	2	2	1	2	3	5	3	5	1	1	0	1	1	1	4	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:4790709C>A	uc010qyl.2	-	0	439	c.439G>T	c.(439-441)Ggt>Tgt	p.G147C		NM_001004752	NP_001004752	A6NLW9	A6NLW9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 1 (OR51F1), mRNA.	147						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCAGAAGACCCATTTGAATG	0.433													A	4790709	C	A	4790709	3	1	116	1	0	0	0	0	1	0	0	0	11172	623	22	4	502	4	OR51F1	11	4790709	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	941562	4790709	130215807	40	7723											
PCF11	51585	broad.mit.edu	37	chr11	82880169	82880169	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctgcgattaggtttgAtggacctcatggtcagccag	8	10	15	8	1	2	1	2	1	0	0	2	3	2	2	2	5	2	2	2	5	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:82880169A>T	uc001ozx.4	+	7	3137	c.2792A>T	c.(2791-2793)gAt>gTt	p.D931V	PCF11_uc010rsu.1_Missense_Mutation_p.D1062V	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	931	Gly-rich.				mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATTAGGTTTGATGGACCTCAT	0.537													T	82880169	A	T	82880169	3	4	116	1	0	0	0	0	1	0	0	0	11649	333	12	5	2822	5	PCF11	11	82880169	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	78089460	82880169	52126347	41	7724											
CNTN5	53942	broad.mit.edu	37	chr11	100211381	100211382	+	Splice_Site	INS	-	-	GT																															tgcaaccaccaagaaatcccINSgtaagtgacctgggcttttt																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr11:100211381_100211382insGT	uc001pga.3	+	22	3421	c.2917_splice	c.e22+1	p.P973_splice	CNTN5_uc021qpb.1_Splice_Site_p.P973_splice|CNTN5_uc021qpc.1_Splice_Site_p.P899_splice|CNTN5_uc010ruk.2_Splice_Site_p.P244_splice	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	973					cell adhesion	anchored to membrane|plasma membrane	protein binding	p.?(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		CAAGAAATCCCGTAAGTGACCT	0.441													GT	100211382	-	GT	100211381	8	5	116	1	0	1	1	0	0	0	1	0	3675	666	23	0	2995	0	CNTN5	11	100211381	Splice_Site	INS	-	TCGA-12-0692-01A-01W-0348-08	17331212	100211381	34795135	42	7725											
ANO2	57101	broad.mit.edu	37	chr12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatagaacactccatagcGcgcccattcttgatatagca	12	11	6	12	2	1	2	0	1	1	1	2	2	2	2	2	0	3	1	2	0	6	7			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:5908716G>A	uc001qnm.2	-	9	1072	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423													A	5908716	G	A	5908716	3	1	116	1	0	0	0	0	1	0	0	0	697	1087	38	1	2064	1	ANO2	12	5908716	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		5908716	127943179	43	7726											
ABCC9	10060	broad.mit.edu	37	chr12	21965043	21965043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtctagaacgtagtGtgtgcagtggtaatttggaa	12	13	13	3	1	1	2	0	1	1	1	1	3	1	3	0	2	2	3	0	2	6	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:21965043G>T	uc001rfh.3	-	33	4171	c.4151C>A	c.(4150-4152)aCa>aAa	p.T1384K	ABCC9_uc001rfi.1_Missense_Mutation_p.T1384K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1384	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGAACGTAGTGTGTGCAGTGG	0.358													T	21965043	G	T	21965043	3	4	116	1	0	0	0	0	1	0	0	0	59	1377	48	4	660	4	ABCC9	12	21965043	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	16056327	21965043	111886852	44	7727											
PIWIL1	9271	broad.mit.edu	37	chr12	130847606	130847606	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgtgtaccgcgatggcgtAggagacggccagctgaaaac	11	6	14	10	5	0	2	0	1	0	1	1	4	0	2	2	3	3	3	2	3	4	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr12:130847606A>G	uc001uik.3	+	17	2383	c.2112A>G	c.(2110-2112)gtA>gtG	p.V704V	PIWIL1_uc001uij.2_Silent_p.V704V	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	704	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding	p.G703G(1)		breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GCGATGGCGTAGGAGACGGCC	0.478													G	130847606	A	G	130847606	2	3	116	1	0	0	0	0	0	0	0	1	12034	407	15	3		3	PIWIL1	12	130847606	Silent	SNP	A	TCGA-12-0692-01A-01W-0348-08	108882563	130847606	3004289	45	7728											
FLT3	2322	broad.mit.edu	37	chr13	28597589	28597589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcttcttccagcctTttttggttttcatattcaat	5	21	3	12	0	4	0	2	0	2	0	7	0	7	0	4	1	1	1	4	1	2	9			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:28597589T>A	uc001urw.3	-	18	2398	c.2316A>T	c.(2314-2316)aaA>aaT	p.K772N	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.K772N	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	772	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCCAGCCTTTTTTGGTTTT	0.348			"Mis, O"		"AML, ALL"								A	28597589	T	A	28597589	3	1	116	1	0	0	0	0	1	0	0	0	5991	1838	64	5	689	5	FLT3	13	28597589	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08		28597589	86572289	46	7729											
FAM70B	348013	broad.mit.edu	37	chr13	114507939	114507939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagcagatcctggcctacGcaggcttccgcctgacgccc	6	6	10	19	3	0	2	0	1	0	1	2	2	2	2	6	2	2	3	6	2	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr13:114507939G>A	uc001vuh.3	+	7	778	c.751G>A	c.(751-753)Gca>Aca	p.A251T		NM_182614	NP_872420	Q8WV15	FA70B_HUMAN	Homo sapiens family with sequence similarity 70, member B (FAM70B), mRNA.	251						integral to membrane				upper_aerodigestive_tract(1)	1	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.123)|all_epithelial(44;0.133)	all cancers(43;0.181)			CCTGGCCTACGCAGGCTTCCG	0.677													A	114507939	G	A	114507939	3	1	116	1	0	0	0	0	1	0	0	0	5656	1087	38	1	781	1	FAM70B	13	114507939	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	85910350	114507939	661939	47	7730											
EDDM3B	64184	broad.mit.edu	37	chr14	21238424	21238424	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattcatgaaacagcactacTtaagtccaagtcgagaattc	16	10	6	9	1	1	2	1	1	0	1	4	3	2	2	1	0	3	1	1	0	6	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:21238424T>G	uc021ron.1	+	0	115	c.115T>G	c.(115-117)Tta>Gta	p.L39V	EDDM3B_uc001vyd.3_Missense_Mutation_p.L39V	NM_022360	NP_071755	P56851	EP3B_HUMAN	Homo sapiens epididymal protein 3B (EDDM3B), mRNA.	39					spermatid development	extracellular region				central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						ACAGCACTACTTAAGTCCAAG	0.413													G	21238424	T	G	21238424	3	3	116	1	0	0	0	0	1	0	0	0	4949	1606	56	5	117	5	EDDM3B	14	21238424	Missense_Mutation	SNP	T	TCGA-12-0692-01A-01W-0348-08		21238424	86111116	48	7731											
CTSG	1511	broad.mit.edu	37	chr14	25042969	25042969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgactttccataggagacGatgccgtgggccacattgtt	9	10	12	10	3	0	1	0	0	0	1	1	5	1	1	3	2	1	1	3	2	1	4	rs147260851	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:25042969G>A	uc001wpq.3	-	4	679	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	214	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CATAGGAGACGATGCCGTGGG	0.557													A	25042969	G	A	25042969	2	1	116	1	0	0	0	0	0	0	0	1	4068	1048	37	1		1	CTSG	14	25042969	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	3804545	25042969	82306571	49	7732											
CDKL1	8814	broad.mit.edu	37	chr14	50802891	50802891	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcgtttcacagccccAgaagcaagcaggcctccctc	9	7	10	15	1	1	2	1	1	0	1	3	2	2	2	4	1	4	3	4	1	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:50802891A>G	uc010anu.2	-	19	2802	c.2802T>C	c.(2800-2802)tcT>tcC	p.S934S	CDKL1_uc001wxz.3_Intron	NM_004196	NP_004187	Q00532	CDKL1_HUMAN	Homo sapiens cyclin-dependent kinase-like 1 (CDC2-related kinase) (CDKL1), mRNA.	0						cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|stomach(1)	12	all_epithelial(31;0.000746)|Breast(41;0.0102)					TCACAGCCCCAGAAGCAAGCA	0.567													G	50802891	A	G	50802891	2	3	116	1	0	0	0	0	0	0	0	1	3183	203	7	3		3	CDKL1	14	50802891	Silent	SNP	A	TCGA-12-0692-01A-01W-0348-08	25759922	50802891	56546649	50	7733											
FAM181A	90050	broad.mit.edu	37	chr14	94394937	94394937	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggagaaggtgctgaggaaCccctacagggaggaatgtct	13	6	15	7	0	1	2	0	1	1	1	1	6	1	5	2	5	3	1	2	5	5	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr14:94394937C>T	uc001ybz.2	+	2	817	c.492C>T	c.(490-492)aaC>aaT	p.N164N	FAM181A-AS1_uc001yby.2_5'Flank|FAM181A_uc021say.1_Silent_p.N102N|FAM181A_uc021saz.1_Silent_p.N102N|FAM181A_uc010aus.2_Silent_p.N102N|FAM181A_uc001yca.2_Silent_p.N102N	NM_138344	NP_001194003	Q8N9Y4	F181A_HUMAN	Homo sapiens family with sequence similarity 181, member A (FAM181A), transcript variant 1, mRNA.	164				N -> S (in Ref. 2; BAC04151).						cervix(1)|endometrium(2)|large_intestine(8)|lung(4)|prostate(1)|skin(2)	18						TGCTGAGGAACCCCTACAGGG	0.637													T	94394937	C	T	94394937	2	4	116	1	0	0	0	0	0	0	0	1	5554	506	18	2		2	FAM181A	14	94394937	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	43592046	94394937	12954603	51	7734											
SLC12A6	9990	broad.mit.edu	37	chr15	34528395	34528395	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagtttcggtctttcaccaaTtgtgcctgaggaagaaggtc	9	12	12	8	1	2	2	1	1	1	1	4	4	2	3	2	3	1	1	2	3	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:34528395T>C	uc001zhw.3	-	22	3212	c.3048A>G	c.(3046-3048)caA>caG	p.Q1016Q	SLC12A6_uc001zhv.3_Silent_p.Q965Q|SLC12A6_uc001zhz.3_Non-coding_Transcript|SLC12A6_uc001zhx.3_Silent_p.Q1001Q|SLC12A6_uc001zhy.3_Non-coding_Transcript|SLC12A6_uc001zia.3_Silent_p.Q957Q|SLC12A6_uc001zib.3_Silent_p.Q1007Q|SLC12A6_uc001zic.3_Silent_p.Q1016Q|SLC12A6_uc010bau.3_Silent_p.Q1016Q|SLC12A6_uc001zid.3_Silent_p.Q957Q|SLC12A6_uc001zht.3_Non-coding_Transcript|SLC12A6_uc001zhu.3_Silent_p.Q828Q	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 6 (SLC12A6), transcript variant 1, mRNA.	1016					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CTTTCACCAATTGTGCCTGAG	0.413													C	34528395	T	C	34528395	2	2	116	1	0	0	0	0	0	0	0	1	14481	1490	52	3		3	SLC12A6	15	34528395	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08		34528395	68002997	52	7735											
LMAN1L	79748	broad.mit.edu	37	chr15	75116023	75116023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcttcggggcccggcGgtgaggggaaagtagtgggc	7	5	22	7	3	0	1	0	1	0	0	1	4	0	3	1	8	1	2	1	8	2	2	rs147808783	byFrequency	TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr15:75116023G>A	uc002ayt.1	+	12	1325	c.1323_splice	c.e12+1	p.A441_splice	LMAN1L_uc010bke.1_Splice_Site_p.A429_splice|CPLX3_uc002ayu.1_5'Flank	NM_021819	NP_068591	Q9HAT1	LMA1L_HUMAN	Homo sapiens lectin, mannose-binding, 1 like (LMAN1L), mRNA.	441						ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding			NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGGCCCGGCGGTGAGGGGAA	0.622													A	75116023	G	A	75116023	2	1	116	1	0	0	0	0	0	0	0	1	8898	1130	39	1		1	LMAN1L	15	75116023	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	40587628	75116023	27415369	53	7736											
DNAH3	55567	broad.mit.edu	37	chr16	20974846	20974846	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgctcctcatggggccAggccgagtcatagatcagct	8	9	13	11	1	3	1	3	0	0	1	4	3	4	1	3	3	2	3	3	3	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:20974846A>T	uc010vbe.2	-	52	10360	c.10360T>A	c.(10360-10362)Tgg>Agg	p.W3454R	DNAH3_uc010vbd.2_Missense_Mutation_p.W889R	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3454					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCATGGGGCCAGGCCGAGTCA	0.532													T	20974846	A	T	20974846	3	4	116	1	0	0	0	0	1	0	0	0	4642	188	7	5	2029	5	DNAH3	16	20974846	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08		20974846	69379907	54	7737											
SRCAP	10847	broad.mit.edu	37	chr16	30748842	30748842	+	Missense_Mutation	SNP	G	G	C																															tccttcacagattcctccttGttcttctcctgcctgcaccc																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748842G>C	uc002dze.1	+	33	7866	c.7481G>C	c.(7480-7482)tGt>tCt	p.C2494S	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.C2289S	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2494	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.P2493S(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			attcctccttgttcttctcct	0.552													C	30748842	G	C	30748842	3	2	116	1	0	0	0	0	1	0	0	0	15231	1377	48	4	7607	4	SRCAP	16	30748842	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	9773996	30748842	59605911	55	7738	10	2									
SRCAP	10847	broad.mit.edu	37	chr16	30748845	30748845	+	Missense_Mutation	SNP	C	C	G																															ttcacagattcctccttgttCttctcctgcctgcacccctc																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:30748845C>G	uc002dze.1	+	33	7869	c.7484C>G	c.(7483-7485)tCt>tGt	p.S2495C	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.S2290C	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2495	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			cctccttgttcttctcctgcc	0.547													G	30748845	C	G	30748845	3	3	116	1	0	0	0	0	1	0	0	0	15231	913	32	4	7610	4	SRCAP	16	30748845	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	3	30748845	59605908	56	7739	10	2									
ITGAD	3681	broad.mit.edu	37	chr16	31429674	31429674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggccaccctgggagacaGgatgcttatgagggccagtg	10	6	15	10	0	0	2	0	1	0	1	0	4	0	3	3	4	1	1	3	4	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:31429674G>T	uc010cap.1	+	21	2721	c.2672G>T	c.(2671-2673)aGg>aTg	p.R891M	ITGAD_uc002ebv.1_Missense_Mutation_p.R890M	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	890					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGGGAGACAGGATGCTTATG	0.572													T	31429674	G	T	31429674	3	4	116	1	0	0	0	0	1	0	0	0	7942	1000	35	4	2755	4	ITGAD	16	31429674	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	680829	31429674	58925079	57	7740											
PLA2G15	23659	broad.mit.edu	37	chr16	68288909	68288909	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaagaccttctcactGgagttcctggaccccagcaa	9	10	10	12	0	1	1	1	0	1	1	3	4	2	4	4	3	1	2	4	3	2	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr16:68288909G>A	uc002evr.3	+	2	455	c.372G>A	c.(370-372)ctG>ctA	p.L124L	PLA2G15_uc010vld.2_Silent_p.L124L|PLA2G15_uc010vle.2_Nonsense_Mutation_p.W72*|PLA2G15_uc010vlf.2_Intron|PLA2G15_uc002evs.3_5'UTR	NM_012320	NP_036452	Q8NCC3	PAG15_HUMAN	Homo sapiens phospholipase A2, group XV (PLA2G15), mRNA.	124					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCTTCTCACTGGAGTTCCTGG	0.572													A	68288909	G	A	68288909	2	1	116	1	0	0	0	0	0	0	0	1	12069	1335	47	2		2	PLA2G15	16	68288909	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	36859235	68288909	22065844	58	7741											
ITGAE	3682	broad.mit.edu	37	chr17	3651273	3651273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataaacggacattcacgaCgccgttgaagccgatgggca	13	6	11	11	5	1	1	1	1	0	0	1	4	1	2	2	2	2	2	2	2	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:3651273C>T	uc002fwo.4	-	16	2197	c.2098G>A	c.(2098-2100)Gtc>Atc	p.V700I		NM_002208	NP_002199	P38570	ITAE_HUMAN	Homo sapiens integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide) (ITGAE), mRNA.	700					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		ACATTCACGACGCCGTTGAAG	0.542													T	3651273	C	T	3651273	3	4	116	1	0	0	0	0	1	0	0	0	7943	536	19	1	1501	1	ITGAE	17	3651273	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		3651273	77543937	59	7742											
LGALS9B	284194	broad.mit.edu	37	chr17	20363749	20363749	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggatagtcccagaaaagGggacggcctgcagggagaag	12	5	16	8	1	0	2	0	0	0	2	1	5	1	4	2	5	1	1	2	5	4	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:20363749G>C	uc002gxa.1	-	1	112	c.47C>G	c.(46-48)cCc>cGc	p.P16R	LGALS9B_uc002gwz.1_Missense_Mutation_p.P16R|LGALS9B_uc010vzh.1_Intron	NM_001042685	NP_001036150	Q3B8N2	LEG9B_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9B (LGALS9B), mRNA.	16							sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(2)	10						CCCAGAAAAGGGGACGGCCTG	0.602													C	20363749	G	C	20363749	3	2	116	1	0	0	0	0	1	0	0	0	8809	1232	43	4	1060	4	LGALS9B	17	20363749	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	16712476	20363749	60831461	60	7743											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115627	47115627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggacctgagaatgggCgccgagggggctttggctct	7	7	17	10	2	1	1	0	1	1	1	1	4	1	2	2	5	0	2	2	5	1	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr17:47115627C>T	uc002iom.3	+	5	833	c.499C>T	c.(499-501)Cgc>Tgc	p.R167C	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	167					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGAGAATGGGCGCCGAGGGGG	0.637													T	47115627	C	T	47115627	3	4	116	1	0	0	0	0	1	0	0	0	7631	768	27	1	521	1	IGF2BP1	17	47115627	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	26751878	47115627	34079583	61	7744											
TNFSF14	8740	broad.mit.edu	37	chr19	6669978	6669978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagacccacccgggccaCactgcacgactgtctccggt	8	5	9	19	3	1	1	0	0	1	1	2	2	1	1	5	2	1	1	5	2	0	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:6669978C>A	uc002mfk.2	-	1	485	c.103G>T	c.(103-105)Gtg>Ttg	p.V35L	TNFSF14_uc002mfj.2_Missense_Mutation_p.V35L	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	35					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACCCGGGCCACACTGCACGAC	0.632													A	6669978	C	A	6669978	3	1	116	1	0	0	0	0	1	0	0	0	16407	478	17	4	635	4	TNFSF14	19	6669978	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		6669978	52459005	62	7745											
ZNF560	147741	broad.mit.edu	37	chr19	9579010	9579010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctccattttggtttcttgCctgttaacacaggaatgaac	9	15	7	10	0	2	1	0	1	2	0	3	2	2	2	2	2	3	2	2	2	3	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:9579010C>T	uc002mlp.1	-	10	823	c.613_splice	c.e10-1	p.A205_splice	ZNF560_uc010dwr.1_Splice_Site_p.A99_splice	NM_152476	NP_689689	Q96MR9	ZN560_HUMAN	Homo sapiens zinc finger protein 560 (ZNF560), mRNA.	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGGTTTCTTGCCTGTTAACAC	0.338													T	9579010	C	T	9579010	3	4	116	1	0	0	0	0	1	0	0	0	18092	753	26	2	1763	2	ZNF560	19	9579010	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	2909032	9579010	49549973	63	7746											
OR1I1	126370	broad.mit.edu	37	chr19	15198267	15198267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccattgtccacccacagCgttacttggttctcatgtgc	6	13	9	13	1	1	0	1	0	1	0	3	0	2	0	3	2	3	2	3	2	1	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:15198267C>T	uc010xoe.2	+	0	391	c.391C>T	c.(391-393)Cgt>Tgt	p.R131C		NM_001004713	NP_001004713	O60431	OR1I1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily I, member 1 (OR1I1), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CCACCCACAGCGTTACTTGGT	0.567													T	15198267	C	T	15198267	3	4	116	1	0	0	0	0	1	0	0	0	11034	768	27	1	393	1	OR1I1	19	15198267	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	5619257	15198267	43930716	64	7747											
NLRP4	147945	broad.mit.edu	37	chr19	56388509	56388509	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgggctctgacgcatacGgattgccgcttagagattct	7	12	12	10	4	2	2	0	1	2	1	3	4	2	3	1	2	2	3	1	2	2	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr19:56388509G>A	uc002qmd.4	+	7	3095	c.2673G>A	c.(2671-2673)acG>acA	p.T891T	NLRP4_uc002qmf.3_Silent_p.T816T|NLRP4_uc010etf.3_Silent_p.T666T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	891							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGACGCATACGGATTGCCGCT	0.478													A	56388509	G	A	56388509	2	1	116	1	0	0	0	0	0	0	0	1	10555	1103	39	1		1	NLRP4	19	56388509	Silent	SNP	G	TCGA-12-0692-01A-01W-0348-08	41190242	56388509	2740474	65	7748											
STK35	140901	broad.mit.edu	37	chr20	2097899	2097899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgcacatcccccaaaaaCgcaggacttccatgtctgag	12	8	8	13	1	1	1	0	1	1	0	3	2	3	2	3	1	2	3	3	1	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:2097899C>T	uc002wfw.4	+	2	1480	c.1480C>T	c.(1480-1482)Cgc>Tgc	p.R494C	STK35_uc010zpu.2_Intron	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN	Homo sapiens serine/threonine kinase 35 (STK35), mRNA.	494	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity			large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						CCCCCAAAAACGCAGGACTTC	0.512													T	2097899	C	T	2097899	3	4	116	1	0	0	0	0	1	0	0	0	15397	536	19	1	1490	1	STK35	20	2097899	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08		2097899	60927621	66	7749											
TRMT6	51605	broad.mit.edu	37	chr20	5925484	5925485	+	Frame_Shift_Del	DEL	TA	TA	-																															cccttgtccttcaaagctttTatgtcatcttgagtaagttt																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:5925484_5925485delTA	uc002wmh.1	-	2	454_455	c.332_333delTA	c.(331-333)atafs	p.I111fs	TRMT6_uc010zra.1_Intron|TRMT6_uc010gbn.1_Intron|TRMT6_uc010gbo.1_Non-coding_Transcript	NM_015939	NP_057023	Q9UJA5	TRM6_HUMAN	Homo sapiens tRNA methyltransferase 6 homolog (S. cerevisiae) (TRMT6), mRNA.	111					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TCAAAGCTTTTATGTCATCTTG	0.342													-	5925485	TA	-	5925484	7	5	116	1	0	1	0	1	0	0	0	0	16669	1744	61	0	1196	0	TRMT6	20	5925484	Frame_Shift_Del	DEL	TA	TCGA-12-0692-01A-01W-0348-08	3827585	5925484	57100036	67	7750											
CHD6	84181	broad.mit.edu	37	chr20	40043955	40043955	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttccattgacaatctgTccagtcacaggatggatcag	11	10	10	10	0	3	1	2	1	1	0	5	3	5	3	2	3	0	1	2	3	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:40043955T>C	uc002xka.1	-	33	6988	c.6810A>G	c.(6808-6810)ggA>ggG	p.G2270G	CHD6_uc002xjz.1_5'Flank	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	2270					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TGACAATCTGTCCAGTCACAG	0.537													C	40043955	T	C	40043955	2	2	116	1	0	0	0	0	0	0	0	1	3359	1654	58	3		3	CHD6	20	40043955	Silent	SNP	T	TCGA-12-0692-01A-01W-0348-08	34118471	40043955	22981565	68	7751											
SYS1	90196	broad.mit.edu	37	chr20	43995683	43995683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgcactcatggctgtcatCggggagtacctgtgcatgcg	7	11	13	10	2	2	0	2	0	0	0	3	1	2	1	1	3	4	4	1	3	1	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:43995683C>T	uc021weh.1	+	4	642	c.399C>T	c.(397-399)atC>atT	p.I133I	SYS1_uc002xnv.3_Silent_p.I133I|SYS1_uc002xnw.2_Intron|SYS1_uc010gha.3_Non-coding_Transcript|DBNDD2_uc002xnx.3_Intron	NM_001197129	NP_001184058	Q8N2H4	SYS1_HUMAN	Homo sapiens SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae) (SYS1), transcript variant 3, mRNA.	133					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				TGGCTGTCATCGGGGAGTACC	0.577													T	43995683	C	T	43995683	2	4	116	1	0	0	0	0	0	0	0	1	15561	874	31	1		1	SYS1	20	43995683	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	3951728	43995683	19029837	69	7752											
TSHZ2	128553	broad.mit.edu	37	chr20	51870964	51870964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaccccggctaagaaaCgcgtttttgatgtcaatcgg	9	11	11	10	4	2	2	2	1	0	1	3	2	2	2	2	3	1	2	2	3	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr20:51870964C>T	uc002xwo.3	+	1	1854	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C	TSHZ2_uc021wex.1_Missense_Mutation_p.R320C	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	323					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			GGCTAAGAAACGCGTTTTTGA	0.453													T	51870964	C	T	51870964	3	4	116	1	0	0	0	0	1	0	0	0	16725	536	19	1	973	1	TSHZ2	20	51870964	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	7875281	51870964	11154556	70	7753											
CSF2RB	1439	broad.mit.edu	37	chr22	37326752	37326752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctgagggaggggctcGgcagcctccacaccaggcac	8	4	15	14	1	0	1	0	1	0	0	2	2	1	2	3	5	2	4	3	5	0	0			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:37326752G>A	uc003aqa.4	+	7	1109	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	CSF2RB_uc003aqc.4_Missense_Mutation_p.G304S	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	298					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GGAGGGGCTCGGCAGCCTCCA	0.647													A	37326752	G	A	37326752	3	1	116	1	0	0	0	0	1	0	0	0	3968	1116	39	1	918	1	CSF2RB	22	37326752	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		37326752	13977814	71	7754											
ENTHD1	150350	broad.mit.edu	37	chr22	40283548	40283548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatttatacacgtggcGccagttcttcccatggtcat	9	12	10	10	2	2	0	1	0	1	0	3	1	3	1	2	3	1	1	2	3	3	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:40283548G>A	uc003ayg.3	-	1	456	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	69	ENTH.							p.R69C(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					TACACGTGGCGCCAGTTCTTC	0.403													A	40283548	G	A	40283548	3	1	116	1	0	0	0	0	1	0	0	0	5178	1087	38	1	1642	1	ENTHD1	22	40283548	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	2956796	40283548	11021018	72	7755											
CYP2D6	1565	broad.mit.edu	37	chr22	42524294	42524294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaaagccttttggaagCgtaggaccttgccagccagc	10	8	12	11	1	1	0	1	0	0	0	1	3	1	3	4	3	5	1	4	3	3	4			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chr22:42524294C>T	uc003bce.3	-	4	815	c.725G>A	c.(724-726)cGc>cAc	p.R242H	LOC100132273_uc003bcd.1_Intron|CYP2D6_uc010gyu.3_5'UTR|CYP2D6_uc003bcf.3_Missense_Mutation_p.R191H	NM_000106	NP_000097	Q6NWU0	Q6NWU0_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily D, polypeptide 6 (CYP2D6), transcript variant 1, mRNA.	242							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen	p.D241N(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTTGGAAGCGTAGGACCTT	0.607													T	42524294	C	T	42524294	3	4	116	1	0	0	0	0	1	0	0	0	4202	768	27	1	788	1	CYP2D6	22	42524294	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	2240746	42524294	8780272	73	7756											
TBL1X	6907	broad.mit.edu	37	chrX	9656243	9656243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccacgacctcagccggcGtttcccaccaaaatccatcg	10	6	6	19	4	1	0	1	0	0	0	4	1	3	0	7	1	1	1	7	1	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:9656243G>A	uc004csr.3	+	6	1031	c.544G>A	c.(544-546)Gtt>Att	p.V182I	TBL1X_uc004csq.4_Missense_Mutation_p.V131I|TBL1X_uc010ndr.3_Missense_Mutation_p.V131I|TBL1X_uc010ndq.3_Missense_Mutation_p.V182I|TBL1X_uc004css.3_Missense_Mutation_p.V133I	NM_005647	NP_001132940	O60907	TBL1X_HUMAN	Homo sapiens transducin (beta)-like 1X-linked (TBL1X), transcript variant 1, mRNA.	182					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|sensory perception of sound|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein C-terminus binding|protein domain specific binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(7)|lung(2)|ovary(1)|skin(2)	20		Hepatocellular(5;0.000888)				CTCAGCCGGCGTTTCCCACCA	0.632													A	9656243	G	A	9656243	3	1	116	1	0	0	0	0	1	0	0	0	15739	1145	40	1	558	1	TBL1X	23	9656243	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08		9656243	145614317	74	7757											
POLA1	5422	broad.mit.edu	37	chrX	24759540	24759540	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacacctggaaagatgcCaagttcattttgcagatcat	14	10	8	9	0	2	2	2	0	0	2	2	4	2	3	2	1	3	2	2	1	3	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:24759540C>T	uc004dbl.3	+	20	2262	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	749					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGAAAGATGCCAAGTTCATTT	0.348													T	24759540	C	T	24759540	2	4	116	1	0	0	0	0	0	0	0	1	12264	581	21	2		2	POLA1	23	24759540	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	15103297	24759540	130511020	75	7758											
SATL1	340562	broad.mit.edu	37	chrX	84362599	84362599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttgattggctagtgcctGgttgtctcatgcctagttgg	5	16	12	8	0	1	1	1	1	1	0	2	1	1	1	2	3	3	3	2	3	3	7			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:84362599G>A	uc004een.3	-	0	1376	c.1376C>T	c.(1375-1377)cCa>cTa	p.P459L		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	272	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GCTAGTGCCTGGTTGTCTCAT	0.592													A	84362599	G	A	84362599	3	1	116	1	0	0	0	0	1	0	0	0	13947	1348	47	2	542	2	SATL1	23	84362599	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	59603059	84362599	70907961	76	7759											
PCDH11X	27328	broad.mit.edu	37	chrX	91132676	91132676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctattcctgagaataaCtctcctggcatccagttgac	9	14	7	11	0	2	2	0	2	2	1	5	3	4	2	3	1	1	3	3	1	3	5			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132676C>G	uc004efk.2	+	1	2282	c.1437C>G	c.(1435-1437)aaC>aaG	p.N479K	PCDH11X_uc004efl.2_Missense_Mutation_p.N479K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N479K|PCDH11X_uc004efm.2_Missense_Mutation_p.N479K|PCDH11X_uc004efn.2_Missense_Mutation_p.N479K|PCDH11X_uc004efo.2_Missense_Mutation_p.N479K|PCDH11X_uc004efh.2_Missense_Mutation_p.N479K|PCDH11X_uc004efj.1_Missense_Mutation_p.N479K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	479	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTGAGAATAACTCTCCTGGCA	0.433													G	91132676	C	G	91132676	3	3	116	1	0	0	0	0	1	0	0	0	11584	564	20	4	1443	4	PCDH11X	23	91132676	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	6770077	91132676	64137884	77	7760			1	25		2	2	29	N	C_A	7.597413e-05
PCDH11X	27328	broad.mit.edu	37	chrX	91132704	91132704	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatccagttgacgaaagtaAgtgcaatggatgcagacagt	14	8	12	7	1	0	2	0	1	0	1	1	4	1	3	1	1	2	5	1	1	3	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:91132704A>T	uc004efk.2	+	1	2310	c.1465A>T	c.(1465-1467)Agt>Tgt	p.S489C	PCDH11X_uc004efl.2_Missense_Mutation_p.S489C|PCDH11X_uc010nmv.2_Missense_Mutation_p.S489C|PCDH11X_uc004efm.2_Missense_Mutation_p.S489C|PCDH11X_uc004efn.2_Missense_Mutation_p.S489C|PCDH11X_uc004efo.2_Missense_Mutation_p.S489C|PCDH11X_uc004efh.2_Missense_Mutation_p.S489C|PCDH11X_uc004efj.1_Missense_Mutation_p.S489C	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GACGAAAGTAAGTGCAATGGA	0.453													T	91132704	A	T	91132704	3	4	116	1	0	0	0	0	1	0	0	0	11584	72	3	5	1471	5	PCDH11X	23	91132704	Missense_Mutation	SNP	A	TCGA-12-0692-01A-01W-0348-08	28	91132704	64137856	78	7761			1	25		2	2	29	N	C_A	7.597413e-05
LONRF3	79836	broad.mit.edu	37	chrX	118108897	118108897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgcacctctaccgacgCgggagccagagcaagagcag	10	2	13	16	4	1	2	0	0	1	2	1	4	1	3	5	1	4	3	5	1	2	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:118108897C>T	uc004eqw.3	+	0	185	c.154C>T	c.(154-156)Cgg>Tgg	p.R52W	LONRF3_uc004eqx.3_Missense_Mutation_p.R52W|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_5'Flank	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	52					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCTACCGACGCGGGAGCCAGA	0.677													T	118108897	C	T	118108897	3	4	116	1	0	0	0	0	1	0	0	0	8966	759	27	1	156	1	LONRF3	23	118108897	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	26976193	118108897	37161663	79	7762											
ZBTB33	10009	broad.mit.edu	37	chrX	119388318	119388318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtcctgactcggccGtcagtaatacatctttggtc	7	12	9	13	2	2	1	1	1	1	0	6	1	4	1	3	2	1	2	3	2	2	3			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:119388318G>A	uc022cdm.1	+	0	1048	c.1048G>A	c.(1048-1050)Gtc>Atc	p.V350I	ZBTB33_uc010nqm.1_Missense_Mutation_p.V350I|ZBTB33_uc004esn.1_Missense_Mutation_p.V350I	NM_006777	NP_006768	Q86T24	KAISO_HUMAN	Homo sapiens zinc finger and BTB domain containing 33 (ZBTB33), transcript variant 2, mRNA.	350					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding	p.V350I(2)		breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TGACTCGGCCGTCAGTAATAC	0.413													A	119388318	G	A	119388318	3	1	116	1	0	0	0	0	1	0	0	0	17637	1145	40	1	1050	1	ZBTB33	23	119388318	Missense_Mutation	SNP	G	TCGA-12-0692-01A-01W-0348-08	1279421	119388318	35882242	80	7763											
STAG2	10735	broad.mit.edu	37	chrX	123176479	123176479	+	Frame_Shift_Del	DEL	C	C	-																															tgagataattcgaaaaatgaCtgaagaattcgatgaggtaa																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:123176479delC	uc004eua.3	+	6	850	c.446delC	c.(445-447)actfs	p.T149fs	STAG2_uc004etz.4_Frame_Shift_Del_p.T149fs|STAG2_uc004eub.3_Frame_Shift_Del_p.T149fs|STAG2_uc004euc.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eud.3_Frame_Shift_Del_p.T149fs|STAG2_uc004eue.3_Frame_Shift_Del_p.T149fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	149					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CGAAAAATGACTGAAGAATTC	0.299													-	123176479	C	-	123176479	7	5	116	1	0	1	0	1	0	0	0	0	15339	565	20	0	464	0	STAG2	23	123176479	Frame_Shift_Del	DEL	C	TCGA-12-0692-01A-01W-0348-08	3788161	123176479	32094081	81	7764											
RBMX	27316	broad.mit.edu	37	chrX	135961585	135961586	+	Frame_Shift_Ins	INS	-	-	T																															tgggcgatctgcttcaaccaINStgtttttttttttttgggcc																										TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:135961585_135961586insT	uc004fae.2	-	1	211_212	c.1_2insA	c.(1-3)atgfs	p.M1fs	RBMX_uc011mwf.1_Frame_Shift_Ins_p.M1fs|RBMX_uc004fad.1_Frame_Shift_Ins_p.M1fs|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	1						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.?(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCAACCATGTTTTTTTTT	0.391													T	135961586	-	T	135961585	7	5	116	1	0	1	1	0	0	0	0	0	13239	217	8	0	1260	0	RBMX	23	135961585	Frame_Shift_Ins	INS	-	TCGA-12-0692-01A-01W-0348-08	12785106	135961585	19308975	82	7765											
PLXNB3	5365	broad.mit.edu	37	chrX	153033075	153033075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccgctcctacgtggccCgcgtctgcctgggggacacc	5	7	13	16	4	1	0	0	0	1	0	2	1	2	1	5	3	3	2	5	3	2	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153033075C>T	uc010nuk.2	+	3	1133	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Missense_Mutation_p.R265C|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	265	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTGGCCCGCGTCTGCCT	0.721													T	153033075	C	T	153033075	3	4	116	1	0	0	0	0	1	0	0	0	12202	652	23	1	917	1	PLXNB3	23	153033075	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	17071490	153033075	2237485	83	7766											
FLNA	2316	broad.mit.edu	37	chrX	153588484	153588484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgacggtgtaggcccCggggcagaggggaatgtagg	8	6	21	6	2	0	2	0	1	0	1	0	4	0	3	2	8	0	3	2	8	3	2			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153588484C>T	uc004fkk.2	-	21	3928	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.G1227R	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1227					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637													T	153588484	C	T	153588484	3	4	116	1	0	0	0	0	1	0	0	0	5982	652	23	1	4372	1	FLNA	23	153588484	Missense_Mutation	SNP	C	TCGA-12-0692-01A-01W-0348-08	555409	153588484	1682076	84	7767											
PLXNA3	55558	broad.mit.edu	37	chrX	153694763	153694763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccgtggcccggcgtcCgggggcacacggcttaccat	5	5	14	17	5	0	0	0	0	0	0	1	0	1	0	5	5	2	2	5	5	1	1			TCGA-12-0692-01A-01W-0348-08	TCGA-12-0692-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	937fb2a6-3856-4086-a327-8d8e593b7b7b	ca93c2cd-b482-4edb-9ca8-a2e900c4f94a	g.chrX:153694763C>T	uc004flm.3	+	15	3017	c.2844C>T	c.(2842-2844)tcC>tcT	p.S948S		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	948	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCCCGGCGTCCGGGGGCACAC	0.672													T	153694763	C	T	153694763	2	4	116	1	0	0	0	0	0	0	0	1	12198	639	23	1		1	PLXNA3	23	153694763	Silent	SNP	C	TCGA-12-0692-01A-01W-0348-08	106279	153694763	1575797	85	7768											
TNFRSF8	943	broad.mit.edu	37	chr1	12170201	12170201	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcgcccaggaagctgctTctaaactgacgagggctccc	8	7	11	15	2	1	1	0	1	1	0	3	3	2	2	3	2	3	3	3	2	3	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:12170201T>A	uc001atq.3	+	5	838	c.616T>A	c.(616-618)Tct>Act	p.S206T	TNFRSF8_uc010obc.2_Missense_Mutation_p.S95T	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	206					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		GGAAGCTGCTTCTAAACTGAC	0.632													A	12170201	T	A	12170201	3	1	117	1	0	0	0	0	1	0	0	0	16399	1783	62	5	638	5	TNFRSF8	1	12170201	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		12170201	237080420	1	7769											
TAS1R2	80834	broad.mit.edu	37	chr1	19181287	19181287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcgcgccgggccacgCgctcgccaagcagctggcca	7	4	14	16	6	0	1	0	0	0	1	2	1	0	1	4	2	2	3	4	2	1	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:19181287C>T	uc001bba.1	-	2	678	c.677G>A	c.(676-678)cGc>cAc	p.R226H		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	226					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCGGGCCACGCGCTCGCCAAG	0.642													T	19181287	C	T	19181287	3	4	117	1	0	0	0	0	1	0	0	0	15660	768	27	1	1858	1	TAS1R2	1	19181287	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7011086	19181287	230069334	2	7770											
CNKSR1	10256	broad.mit.edu	37	chr1	26515154	26515154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagccacccccacacaGcgcagcccacggacctcctt	8	4	7	22	2	0	0	0	0	0	0	1	1	1	1	7	1	4	2	7	1	0	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:26515154G>A	uc001bln.4	+	18	1735	c.1677G>A	c.(1675-1677)caG>caA	p.Q559Q	CNKSR1_uc001blm.4_Silent_p.Q552Q|CNKSR1_uc009vsd.3_Silent_p.Q294Q|CNKSR1_uc009vse.3_Silent_p.Q294Q|CATSPER4_uc010oey.1_5'Flank|CATSPER4_uc010oez.2_5'Flank|CATSPER4_uc009vsf.3_5'Flank	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	559					Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCCACACAGCGCAGCCCAC	0.647													A	26515154	G	A	26515154	2	1	117	1	0	0	0	0	0	0	0	1	3637	962	34	2		2	CNKSR1	1	26515154	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	7333867	26515154	222735467	3	7771											
ZSWIM5	57643	broad.mit.edu	37	chr1	45553632	45553632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtaggaagaacttcagtgtgGtgtgccgtgattaaatattg	11	13	13	4	1	1	2	1	1	0	1	1	3	1	3	1	2	2	1	1	2	6	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:45553632G>A	uc001cnd.2	-	1	1101	c.873C>T	c.(871-873)caC>caT	p.H291H		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	291							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTTCAGTGTGGTGTGCCGTGA	0.393													A	45553632	G	A	45553632	2	1	117	1	0	0	0	0	0	0	0	1	18341	1252	44	2		2	ZSWIM5	1	45553632	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	19038478	45553632	203696989	4	7772											
AK5	26289	broad.mit.edu	37	chr1	78001682	78001682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctactaccgagcgtccatcCccgtgatcgcctactacgag	8	8	8	17	5	0	1	0	1	0	0	3	3	2	1	6	0	5	0	6	0	4	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:78001682C>T	uc001dhn.3	+	12	1916	c.1579C>T	c.(1579-1581)Ccc>Tcc	p.P527S	AK5_uc001dho.3_Missense_Mutation_p.P501S	NM_174858	NP_036225	Q9Y6K8	KAD5_HUMAN	Homo sapiens adenylate kinase 5 (AK5), transcript variant 1, mRNA.	527					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						AGCGTCCATCCCCGTGATCGC	0.527													T	78001682	C	T	78001682	3	4	117	1	0	0	0	0	1	0	0	0	443	623	22	2	1629	2	AK5	1	78001682	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	32448050	78001682	171248939	5	7773											
MCOLN3	55283	broad.mit.edu	37	chr1	85498465	85498465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttaaactgaagctccaCtgttaggagtctagaaaaca	15	10	8	8	0	1	2	0	1	1	1	2	3	2	3	1	1	3	3	1	1	7	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:85498465C>T	uc001dkp.3	-	5	793	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	MCOLN3_uc001dkq.3_Missense_Mutation_p.V160M|MCOLN3_uc001dkr.3_Missense_Mutation_p.V216M|MCOLN3_uc001dks.4_Missense_Mutation_p.V61M	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	216						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		TGAAGCTCCACTGTTAGGAGT	0.438													T	85498465	C	T	85498465	3	4	117	1	0	0	0	0	1	0	0	0	9472	565	20	2	1047	2	MCOLN3	1	85498465	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7496783	85498465	163752156	6	7774											
INSRR	3645	broad.mit.edu	37	chr1	156811514	156811514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcgggggccatccagCgcacgggcagcagccccttc	6	4	15	16	3	0	0	0	0	0	0	3	1	1	1	4	4	3	3	4	4	0	1	rs139192917		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:156811514C>T	uc010pht.2	-	19	3769	c.3470G>A	c.(3469-3471)cGc>cAc	p.R1157H	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	1157	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity	p.R1157R(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCCATCCAGCGCACGGGCAG	0.627													T	156811514	C	T	156811514	3	4	117	1	0	0	0	0	1	0	0	0	7832	768	27	1	434	1	INSRR	1	156811514	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	71313049	156811514	92439107	7	7775											
CD1B	910	broad.mit.edu	37	chr1	158299678	158299678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttttcctgcattgaggaCgcccaagagatatcgggggc	8	10	13	10	2	0	2	0	1	0	1	2	4	1	3	2	3	2	2	2	3	2	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158299678C>T	uc001frx.3	-	2	679	c.571G>A	c.(571-573)Gtc>Atc	p.V191I	CD1B_uc001frw.3_Missense_Mutation_p.V191I	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	191	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					GCATTGAGGACGCCCAAGAGA	0.438													T	158299678	C	T	158299678	3	4	117	1	0	0	0	0	1	0	0	0	3005	536	19	1	446	1	CD1B	1	158299678	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	1488164	158299678	90950943	8	7776											
OR10R2	343406	broad.mit.edu	37	chr1	158449688	158449688	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccccaaattcttatattCacatacctgaatatgtttta	13	16	3	9	0	2	1	1	1	1	0	2	1	2	1	3	0	2	1	3	0	7	8			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:158449688C>G	uc010pik.2	+	0	21	c.21C>G	c.(19-21)ttC>ttG	p.F7L	AK057554_uc001fso.1_Intron	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TTCTTATATTCACATACCTGA	0.433													G	158449688	C	G	158449688	3	3	117	1	0	0	0	0	1	0	0	0	10993	825	29	4	23	4	OR10R2	1	158449688	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	150010	158449688	90800933	9	7777											
LY9	4063	broad.mit.edu	37	chr1	160786529	160786529	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaggaagctgttgtgtcCcaaggggaatcacacctcaa	13	7	11	10	0	2	1	2	0	0	1	3	3	3	3	2	3	1	2	2	3	5	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:160786529C>G	uc001fwu.3	+	4	1268	c.1218C>G	c.(1216-1218)tcC>tcG	p.S406S	LY9_uc001fwv.3_Silent_p.S406S|LY9_uc001fww.3_Intron|LY9_uc001fwy.1_Intron|LY9_uc001fwz.3_Silent_p.S58S	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	406	Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGTTGTGTCCCAAGGGGAAT	0.557													G	160786529	C	G	160786529	2	3	117	1	0	0	0	0	0	0	0	1	9172	610	22	4		4	LY9	1	160786529	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	2336841	160786529	88464092	10	7778											
CR2	1380	broad.mit.edu	37	chr1	207648560	207648560	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccaacttgtatcaaaaaAggtaagatacttggaaggga	16	9	11	5	0	1	1	1	0	0	1	1	3	1	3	1	3	3	2	1	3	8	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr1:207648560A>C	uc001hfw.3	+	13	2658	c.2539_splice	c.e13+1	p.A847_splice	CR2_uc001hfv.3_Splice_Site_p.A906_splice|CR2_uc009xch.3_Splice_Site_p.E847_splice	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	847					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTATCAAAAAAGGTAAGATAC	0.398													C	207648560	A	C	207648560	3	2	117	1	0	0	0	0	1	0	0	0	3873	86	3	5	2769	5	CR2	1	207648560	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	46862031	207648560	41602061	11	7779											
DCTN1	1639	broad.mit.edu	37	chr2	74592698	74592698	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgagtctggactttctcGatgcgctcatctgcatcctt	6	13	9	13	3	4	0	1	0	3	0	6	3	5	1	2	1	3	2	2	1	0	2	rs140969689	by1000genomes	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:74592698G>A	uc002skx.3	-	24	3291	c.2973C>T	c.(2971-2973)atC>atT	p.I991I	SLC4A5_uc002skl.3_5'Flank|DCTN1_uc002skt.2_5'Flank|DCTN1_uc002skv.3_Silent_p.I857I|DCTN1_uc002sku.3_Silent_p.I857I|DCTN1_uc002skw.2_Silent_p.I984I|DCTN1_uc010ffd.3_Silent_p.I971I|DCTN1_uc002sky.3_Silent_p.I954I	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	991					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GGACTTTCTCGATGCGCTCAT	0.577													A	74592698	G	A	74592698	2	1	117	1	0	0	0	0	0	0	0	1	4340	1048	37	1		1	DCTN1	2	74592698	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		74592698	168606675	12	7780											
PSD4	23550	broad.mit.edu	37	chr2	113940791	113940791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaccccctcttcctggCgagtccttgctcagagaaca	9	8	8	16	1	2	1	1	0	1	1	4	3	4	1	4	1	4	2	4	1	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:113940791C>T	uc002tjc.3	+	1	941	c.758C>T	c.(757-759)gCg>gTg	p.A253V	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Missense_Mutation_p.A252V|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	253					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTCTTCCTGGCGAGTCCTTGC	0.602													T	113940791	C	T	113940791	3	4	117	1	0	0	0	0	1	0	0	0	12734	768	27	1	760	1	PSD4	2	113940791	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	39348093	113940791	129258582	13	7781											
SCN9A	6335	broad.mit.edu	37	chr2	167056293	167056293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgactagacgtaggattCggccaatcctggcaagacgg	10	9	12	10	3	0	3	0	1	0	2	2	4	1	4	2	4	0	2	2	4	4	4	rs142201175		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:167056293C>T	uc010fpl.3	-	26	5164	c.4823G>A	c.(4822-4824)cGa>cAa	p.R1608Q	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1619						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1608Q(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ACGTAGGATTCGGCCAATCCT	0.483													T	167056293	C	T	167056293	3	4	117	1	0	0	0	0	1	0	0	0	14018	884	31	1	1114	1	SCN9A	2	167056293	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	53115502	167056293	76143080	14	7782											
FRZB	2487	broad.mit.edu	37	chr2	183703198	183703198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcattaacattaagtggagGgcagaggcagccagagctgg	12	7	14	8	0	1	2	1	0	0	2	1	3	1	3	1	4	3	3	1	4	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:183703198G>A	uc002upa.2	-	3	954	c.736C>T	c.(736-738)Cct>Tct	p.P246S		NM_001463	NP_001454	Q92765	SFRP3_HUMAN	Homo sapiens frizzled-related protein (FRZB), mRNA.	246	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTAAGTGGAGGGCAGAGGCAG	0.438													A	183703198	G	A	183703198	3	1	117	1	0	0	0	0	1	0	0	0	6117	1232	43	2	253	2	FRZB	2	183703198	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	16646905	183703198	59496175	15	7783											
COL5A2	1290	broad.mit.edu	37	chr2	189927922	189927923	+	Frame_Shift_Ins	INS	-	-	C																															tacctttggggcctggaaggINScccatgctcccgggctgccc																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:189927922_189927923insC	uc002uqk.3	-	26	2119_2120	c.1844_1845insG	c.(1843-1845)ggcfs	p.G615fs	COL5A2_uc010frx.3_Frame_Shift_Ins_p.G191fs	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	615					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			GGCCTGGAAGGCCCATGCTCCC	0.52													C	189927923	-	C	189927922	7	5	117	1	0	1	1	0	0	0	0	0	3728	1190	42	0	2766	0	COL5A2	2	189927922	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	6224724	189927922	53271451	16	7784											
IRS1	3667	broad.mit.edu	37	chr2	227659846	227659846	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgatgagggggtgggggTgggggaggctgcggttcagg	4	8	26	3	1	1	2	1	2	0	0	1	3	1	3	0	10	1	3	0	10	0	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:227659846T>G	uc021vxn.1	-	0	3609	c.3609A>C	c.(3607-3609)ccA>ccC	p.P1203P	IRS1_uc002voh.4_Silent_p.P1203P	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1203	Pro-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GGGGTGGGGGTGGGGGAGGCT	0.582													G	227659846	T	G	227659846	2	3	117	1	0	0	0	0	0	0	0	1	7898	1683	59	5		5	IRS1	2	227659846	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	37731924	227659846	15539527	17	7785											
ECEL1	9427	broad.mit.edu	37	chr2	233346218	233346218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggtgggggtctcacccGctggttgtagacagtgaagt	7	9	17	8	1	1	2	1	1	1	1	2	2	1	2	1	5	0	4	1	5	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr2:233346218G>A	uc002vsv.2	-	13	2192	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	ECEL1_uc010fya.1_Missense_Mutation_p.R661W|ECEL1_uc010fyb.1_Missense_Mutation_p.R370W	NM_004826	NP_004817	O95672	ECEL1_HUMAN	Homo sapiens endothelin converting enzyme-like 1 (ECEL1), mRNA.	663					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)		GGTCTCACCCGCTGGTTGTAG	0.622													A	233346218	G	A	233346218	3	1	117	1	0	0	0	0	1	0	0	0	4930	1086	38	1	360	1	ECEL1	2	233346218	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	5686372	233346218	9853155	18	7786											
OXSR1	9943	broad.mit.edu	37	chr3	38278405	38278405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagtggagtgatgatgaaTttgatgaagaaagtgaggaa	15	9	17	0	0	0	7	0	6	0	1	0	10	0	10	0	3	0	0	0	3	4	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:38278405T>C	uc003chy.3	+	10	1369	c.1027T>C	c.(1027-1029)Ttt>Ctt	p.F343L	OXSR1_uc010hhb.3_Missense_Mutation_p.F277L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	343					intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGATGATGAATTTGATGAAGA	0.423													C	38278405	T	C	38278405	3	2	117	1	0	0	0	0	1	0	0	0	11412	1493	52	3	1069	3	OXSR1	3	38278405	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		38278405	159744025	19	7787											
PRSS50	29122	broad.mit.edu	37	chr3	46759087	46759087	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggtcggcgggatcagcAgtggacagcgcccccggggc	5	5	17	14	4	2	0	1	0	1	0	3	2	2	2	2	6	2	1	2	6	0	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:46759087A>C	uc003cqe.1	-	1	629	c.147T>G	c.(145-147)acT>acG	p.T49T	PRSS50_uc021wxe.1_Silent_p.T49T|PRSS50_uc003cqf.2_Intron	NM_013270	NP_037402	Q9UI38	TSP50_HUMAN	Homo sapiens protease, serine, 50 (PRSS50), mRNA.	49					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CGGGATCAGCAGTGGACAGCG	0.706													C	46759087	A	C	46759087	2	2	117	1	0	0	0	0	0	0	0	1	12716	175	7	5		5	PRSS50	3	46759087	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	8480682	46759087	151263343	20	7788											
CNTN3	5067	broad.mit.edu	37	chr3	74420493	74420493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgggagacaaatctcCgactatcttcttcaacaaac	12	11	5	13	1	5	1	1	0	4	1	7	3	5	1	2	1	2	0	2	1	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:74420493C>T	uc003dpm.1	-	4	592	c.512G>A	c.(511-513)cGg>cAg	p.R171Q		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	171	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding	p.R171Q(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GACAAATCTCCGACTATCTTC	0.403													T	74420493	C	T	74420493	3	4	117	1	0	0	0	0	1	0	0	0	3673	652	23	1	2646	1	CNTN3	3	74420493	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	27661406	74420493	123601937	21	7789											
OR5H6	79295	broad.mit.edu	37	chr3	97983841	97983841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatcttatacaattatccTctttacaatcttagaaaaga	16	16	2	7	0	3	2	0	0	3	2	4	2	4	2	1	0	2	0	1	0	11	8			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:97983841T>C	uc003dsi.1	+	0	713	c.713T>C	c.(712-714)cTc>cCc	p.L238P		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	238					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACAATTATCCTCTTTACAATC	0.353													C	97983841	T	C	97983841	3	2	117	1	0	0	0	0	1	0	0	0	11239	1551	54	3	715	3	OR5H6	3	97983841	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	23563348	97983841	100038589	22	7790											
CCDC54	84692	broad.mit.edu	37	chr3	107096949	107096949	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcacagaactgctttacaAactcatacaaccagcaactc	17	8	3	13	0	2	1	2	0	0	1	3	1	2	1	1	0	8	2	1	0	7	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:107096949A>C	uc003dwi.1	+	0	762	c.515A>C	c.(514-516)aAa>aCa	p.K172T		NM_032600	NP_115989	Q8NEL0	CCD54_HUMAN	Homo sapiens coiled-coil domain containing 54 (CCDC54), mRNA.	172										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CTGCTTTACAAACTCATACAA	0.433													C	107096949	A	C	107096949	3	2	117	1	0	0	0	0	1	0	0	0	2852	14	1	5	517	5	CCDC54	3	107096949	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	9113108	107096949	90925481	23	7791											
ATR	545	broad.mit.edu	37	chr3	142234329	142234329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctttactccagaccAatcggttgacttctgagaac	9	13	8	11	1	2	3	0	2	2	2	4	4	3	3	2	2	2	2	2	2	3	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:142234329A>G	uc003eux.4	-	24	4533	c.4411T>C	c.(4411-4413)Tgg>Cgg	p.W1471R		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	1471					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACTCCAGACCAATCGGTTGAC	0.318								Other conserved DNA damage response genes					G	142234329	A	G	142234329	3	3	117	1	0	0	0	0	1	0	0	0	1209	130	5	3	3615	3	ATR	3	142234329	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	35137380	142234329	55788101	24	7792											
LEKR1	389170	broad.mit.edu	37	chr3	156710933	156710933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatatataaagcattacagGaagagctgactgtgaaagaa	19	8	10	4	0	0	5	0	2	0	3	0	6	0	6	0	1	3	2	0	1	8	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:156710933G>A	uc021xgh.1	+	8	1090	c.976G>A	c.(976-978)Gaa>Aaa	p.E326K	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	42										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGCATTACAGGAAGAGCTGAC	0.348													A	156710933	G	A	156710933	3	1	117	1	0	0	0	0	1	0	0	0	8776	1175	41	2	1006	2	LEKR1	3	156710933	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	14476604	156710933	41311497	25	7793											
PIK3CA	5290	broad.mit.edu	37	chr3	178916614	178916614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcaaagaatcagaacaAtgcctccacgaccatcatca	16	7	5	13	1	3	2	3	0	0	2	4	3	4	2	3	0	3	1	3	0	4	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:178916614A>G	uc003fjk.3	+	1	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCAGAACAATGCCTCCACG	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916614	A	G	178916614	3	3	117	1	0	0	0	0	1	0	0	0	11990	101	4	3	3	3	PIK3CA	3	178916614	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	22205681	178916614	19105816	26	7794											
TNK2	10188	broad.mit.edu	37	chr3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G																															ccacgtcgtcataggcgggcINSggggggggcagcgggcgtgc																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr3:195595228_195595229insG	uc003fvu.1	-	11	2438_2439	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_uc003fvq.1_Frame_Shift_Ins_p.P39fs|TNK2_uc003fvr.1_Frame_Shift_Ins_p.P157fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.P664fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.P710fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_3'UTR	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728													G	195595229	-	G	195595228	7	5	117	1	0	1	1	0	0	0	0	0	16418	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	16678614	195595228	2427202	27	7795											
FGFRL1	53834	broad.mit.edu	37	chr4	1018839	1018839	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagaagaagccgtgcAcccccgcgcctgcccctccc	7	3	10	21	3	0	2	0	0	0	2	1	2	1	2	8	1	3	1	8	1	2	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:1018839A>C	uc003gce.3	+	6	1380	c.1219A>C	c.(1219-1221)Acc>Ccc	p.T407P	FGFRL1_uc003gcf.3_Missense_Mutation_p.T407P|FGFRL1_uc003gcg.3_Missense_Mutation_p.T407P|FGFRL1_uc010ibo.3_Missense_Mutation_p.T407P	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	407					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAAGCCGTGCACCCCCGCGCC	0.731													C	1018839	A	C	1018839	3	2	117	1	0	0	0	0	1	0	0	0	5918	159	6	5	1241	5	FGFRL1	4	1018839	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08		1018839	190135437	28	7796											
DRD5	1816	broad.mit.edu	37	chr4	9784657	9784657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccggccggcttcccctGcgtcagtgagaccaccttcg	4	8	10	19	4	1	1	1	1	0	1	4	2	3	1	7	2	1	1	7	2	0	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:9784657G>T	uc003gmb.4	+	0	1400	c.1004G>T	c.(1003-1005)tGc>tTc	p.C335F		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	335					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGCTTCCCCTGCGTCAGTGAG	0.587													T	9784657	G	T	9784657	3	4	117	1	0	0	0	0	1	0	0	0	4799	1319	46	4	1006	4	DRD5	4	9784657	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	8765818	9784657	181369619	29	7797											
NKX3-2	579	broad.mit.edu	37	chr4	13543971	13543971	+	Silent	SNP	C	C	G																															cgctccagctcgaagacctgCgcgtgggagaaagcggcccg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543971C>G	uc003gmx.2	-	1	724	c.648G>C	c.(646-648)gcG>gcC	p.A216A		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	216					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGAAGACCTGCGCGTGGGAGA	0.741													G	13543971	C	G	13543971	2	3	117	1	0	0	0	0	0	0	0	1	10532	755	27	4		4	NKX3-2	4	13543971	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	3759314	13543971	177610305	30	7798	11	2									
NKX3-2	579	broad.mit.edu	37	chr4	13543978	13543978	+	Missense_Mutation	SNP	G	G	A																															gctcgaagacctgcgcgtggGagaaagcggcccgcgagcgc																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:13543978G>A	uc003gmx.2	-	1	717	c.641C>T	c.(640-642)tCc>tTc	p.S214F		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	214					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CTGCGCGTGGGAGAAAGCGGC	0.751													A	13543978	G	A	13543978	3	1	117	1	0	0	0	0	1	0	0	0	10532	1174	41	2	364	2	NKX3-2	4	13543978	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	7	13543978	177610298	31	7799	11	2									
KLF3	51274	broad.mit.edu	37	chr4	38698729	38698729	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaccctacaaatgtacatggGaagggtgcacatggaagttt	14	9	11	7	0	0	0	0	0	0	0	0	2	0	2	1	3	4	3	1	3	6	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:38698729G>T	uc003gth.4	+	5	1215	c.883G>T	c.(883-885)Gaa>Taa	p.E295*		NM_016531	NP_057615	P57682	KLF3_HUMAN	Homo sapiens Kruppel-like factor 3 (basic) (KLF3), mRNA.	295					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ATGTACATGGGAAGGGTGCAC	0.403													T	38698729	G	T	38698729	4	4	117	1	0	0	0	0	0	1	0	0	8405	1175	41	4	901	4	KLF3	4	38698729	Nonsense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	25154751	38698729	152455547	32	7800											
TLL1	7092	broad.mit.edu	37	chr4	166978363	166978363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtgccaaacctgaccGtggaggctgtgagcagcgat	9	8	15	9	2	0	3	0	3	0	0	0	5	0	4	3	2	4	2	3	2	1	0	rs141877254		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr4:166978363G>A	uc003irh.2	+	13	2395	c.1748G>A	c.(1747-1749)cGt>cAt	p.R583H	TLL1_uc011cjn.2_Missense_Mutation_p.R606H|TLL1_uc011cjo.2_Missense_Mutation_p.R407H	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	583	EGF-like 1; calcium-binding (Potential).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AAACCTGACCGTGGAGGCTGT	0.473													A	166978363	G	A	166978363	3	1	117	1	0	0	0	0	1	0	0	0	16045	1145	40	1	1802	1	TLL1	4	166978363	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	128279634	166978363	24175913	33	7801											
GPR98	84059	broad.mit.edu	37	chr5	89910651	89910651	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttttctttttgttttaGggatgccctctgcatcttta	5	23	6	7	0	3	0	0	0	3	0	3	1	3	1	1	1	2	2	1	1	2	9			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:89910651G>T	uc003kju.3	+	2	119	c.23_splice	c.e2-1	p.G8_splice	GPR98_uc003kjt.3_Splice_Site	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	8					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTGTTTTAGGGATGCCCTC	0.274													T	89910651	G	T	89910651	5	4	117	1	0	0	0	0	0	0	1	0	6776	1014	35	4	28	4	GPR98	5	89910651	Splice_Site	SNP	G	TCGA-12-0821-01A-01W-0424-08		89910651	91004609	34	7802											
SLCO6A1	133482	broad.mit.edu	37	chr5	101724473	101724473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatttattaacatcccGtaaaatacaagaagtttctc	15	13	3	10	1	1	1	0	0	1	1	4	1	3	1	2	0	2	2	2	0	7	6	rs140805258	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:101724473G>A	uc003knn.3	-	11	2108	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	SLCO6A1_uc003kno.3_Missense_Mutation_p.R393W|SLCO6A1_uc003knp.3_Missense_Mutation_p.R646W|SLCO6A1_uc003knq.3_Missense_Mutation_p.R584W	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	646						integral to membrane|plasma membrane	transporter activity	p.R646L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTAACATCCCGTAAAATACAA	0.313													A	101724473	G	A	101724473	3	1	117	1	0	0	0	0	1	0	0	0	14826	1144	40	1	231	1	SLCO6A1	5	101724473	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	11813822	101724473	79190787	35	7803											
CD14	929	broad.mit.edu	37	chr5	140011717	140011717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgttccagcccagcgaaCgacagattgagggagttcag	11	7	12	11	2	1	2	1	1	0	1	2	5	2	3	3	1	3	2	3	1	1	3	rs150900616		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:140011717C>T	uc003lgi.2	-	1	1231	c.852G>A	c.(850-852)tcG>tcA	p.S284S	CD14_uc003lgj.2_Silent_p.S284S|CD14_uc021yej.1_Silent_p.S284S|CD14_uc021yek.1_Silent_p.S284S|CD14_uc021yel.1_Silent_p.S153S	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	284					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCAGCGAACGACAGATTGA	0.617													T	140011717	C	T	140011717	2	4	117	1	0	0	0	0	0	0	0	1	2994	523	19	1		1	CD14	5	140011717	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	38287244	140011717	40903543	36	7804											
WWC1	23286	broad.mit.edu	37	chr5	167880985	167880985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacaggaggtatgaggaGaccagtgagaatgaggcagt	14	6	15	6	0	1	4	1	3	0	2	1	7	1	5	1	4	0	2	1	4	2	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr5:167880985G>A	uc003lzu.3	+	17	2631	c.2538G>A	c.(2536-2538)gaG>gaA	p.E846E	WWC1_uc003lzv.3_Silent_p.E846E|WWC1_uc011den.2_Silent_p.E846E|WWC1_uc003lzw.3_Silent_p.E645E|WWC1_uc010jjf.1_Silent_p.E118E	NM_015238	NP_056053	Q8IX03	KIBRA_HUMAN	Homo sapiens WW and C2 domain containing 1 (WWC1), transcript variant 3, mRNA.	846	Glu-rich.|Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTATGAGGAGACCAGTGAGA	0.537													A	167880985	G	A	167880985	2	1	117	1	0	0	0	0	0	0	0	1	17513	933	33	2		2	WWC1	5	167880985	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	27869268	167880985	13034275	37	7805											
FLOT1	10211	broad.mit.edu	37	chr6	30697825	30697826	+	Frame_Shift_Del	DEL	TT	TT	-																															gatgctcacgcctgtgagtcTttccacactctctggcaggc																								rs144712534	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:30697825_30697826delTT	uc003nrm.3	-	11	1391_1392	c.1227_1228delAA	c.(1225-1230)gaaagafs	p.E409fs	FLOT1_uc011dmr.2_Frame_Shift_Del_p.E361fs	NM_005803	NP_005794	O75955	FLOT1_HUMAN	Homo sapiens flotillin 1 (FLOT1), mRNA.	409						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						CCTGTGAGTCTTTCCACACTCT	0.53													-	30697826	TT	-	30697825	7	5	117	1	0	1	0	1	0	0	0	0	5985	1617	56	0	63	0	FLOT1	6	30697825	Frame_Shift_Del	DEL	TT	TCGA-12-0821-01A-01W-0424-08		30697825	140417242	38	7806											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:31939829_31939830insA	uc003nyv.3	+	0	184_185	c.56_57insA	c.(55-57)gcafs	p.A19fs	DOM3Z_uc003nyp.1_5'UTR|DOM3Z_uc003nyq.1_5'UTR|DOM3Z_uc010jtl.1_5'UTR|STK19_uc003nyt.3_5'UTR|DOM3Z_uc003nyu.1_5'UTR|STK19_uc011dow.2_Frame_Shift_Ins_p.A19fs|STK19_uc011dox.1_5'UTR|STK19_uc003nyw.3_Frame_Shift_Ins_p.A19fs|STK19_uc010jtn.1_5'Flank	NM_032454	NP_115830	P49842	STK19_HUMAN	Homo sapiens serine/threonine kinase 19 (STK19), transcript variant 2, mRNA.	19						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	117	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	1242004	31939829	139175238	39	7807											
LGSN	51557	broad.mit.edu	37	chr6	63990164	63990164	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacctcattactgctatgaAgtccatctaagccggcagca	12	9	8	12	1	2	2	1	1	1	1	3	2	3	2	3	1	4	3	3	1	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:63990164A>C	uc003peh.3	-	3	1326	c.1292T>G	c.(1291-1293)cTt>cGt	p.L431R	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	431					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACTGCTATGAAGTCCATCTAA	0.478													C	63990164	A	C	63990164	3	2	117	1	0	0	0	0	1	0	0	0	8819	72	3	5	241	5	LGSN	6	63990164	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	32050335	63990164	107124903	40	7808											
FILIP1	27145	broad.mit.edu	37	chr6	76024397	76024397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatttcaagcacacgctttCgaagattttccacttctgcc	9	13	5	14	2	2	1	1	0	1	1	4	2	3	1	3	0	2	2	3	0	2	5	rs147080592		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:76024397C>T	uc010kbe.3	-	5	1690	c.1160G>A	c.(1159-1161)cGa>cAa	p.R387Q	FILIP1_uc003phy.1_Missense_Mutation_p.R384Q|FILIP1_uc003phz.3_Missense_Mutation_p.R285Q|FILIP1_uc003pia.3_Missense_Mutation_p.R384Q|FILIP1_uc003pib.1_Missense_Mutation_p.R136Q	NM_015687	NP_056502	Q7Z7B0	FLIP1_HUMAN	Homo sapiens filamin A interacting protein 1 (FILIP1), mRNA.	384								p.R384Q(1)		breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CACACGCTTTCGAAGATTTTC	0.418													T	76024397	C	T	76024397	3	4	117	1	0	0	0	0	1	0	0	0	5943	884	31	1	2498	1	FILIP1	6	76024397	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	12034233	76024397	95090670	41	7809											
CASP8AP2	9994	broad.mit.edu	37	chr6	90577200	90577200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagggctttcattgccGgttcatcctgatgtgttgga	5	16	11	9	1	4	1	3	1	1	0	5	2	5	2	2	3	1	3	2	3	0	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:90577200G>A	uc003pnr.3	+	7	4387	c.4191G>A	c.(4189-4191)ccG>ccA	p.P1397P	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Silent_p.P1397P|CASP8AP2_uc011dzz.2_Silent_p.P1397P	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1397					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		TTTCATTGCCGGTTCATCCTG	0.393													A	90577200	G	A	90577200	2	1	117	1	0	0	0	0	0	0	0	1	2704	1103	39	1		1	CASP8AP2	6	90577200	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	14552803	90577200	80537867	42	7810											
SYNE1	23345	broad.mit.edu	37	chr6	152461140	152461140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtgctgagttccagaCgctggagctgttccaactcc	7	11	11	12	1	1	2	1	1	0	1	4	3	4	3	3	1	3	5	3	1	1	2	rs143049227		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:152461140C>T	uc021zhb.1	-	137	25626	c.25403G>A	c.(25402-25404)cGt>cAt	p.R8468H	SYNE1_uc003qos.4_Missense_Mutation_p.R2992H|SYNE1_uc003qot.4_Missense_Mutation_p.R8420H|SYNE1_uc003qou.4_Missense_Mutation_p.R8468H|SYNE1_uc011eez.2_Missense_Mutation_p.R670H|SYNE1_uc003qoq.4_Missense_Mutation_p.R670H|SYNE1_uc003qor.4_Missense_Mutation_p.R1391H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	8468			R -> H (in a colorectal cancer sample; somatic mutation).		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	p.R8468H(8)		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)		GAGTTCCAGACGCTGGAGCTG	0.557										HNSCC(10;0.0054)			T	152461140	C	T	152461140	3	4	117	1	0	0	0	0	1	0	0	0	15542	536	19	1	1018	1	SYNE1	6	152461140	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	61883940	152461140	18653927	43	7811											
FNDC1	84624	broad.mit.edu	37	chr6	159653439	159653439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagggcacctctcatcGtccttccctgcctgccagct	5	9	7	20	1	1	0	1	0	1	0	5	0	3	0	6	1	3	2	6	1	0	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr6:159653439G>A	uc010kjv.3	+	10	2095	c.1895G>A	c.(1894-1896)cGt>cAt	p.R632H	FNDC1_uc010kjw.1_Missense_Mutation_p.R517H	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	632						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCTCTCATCGTCCTTCCCTG	0.682													A	159653439	G	A	159653439	3	1	117	1	0	0	0	0	1	0	0	0	6017	1145	40	1	1937	1	FNDC1	6	159653439	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	7192299	159653439	11461628	44	7812											
GPNMB	10457	broad.mit.edu	37	chr7	23309680	23309680	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgtggatgagatgtgtCtgctgactgtgagacgaacc	9	11	15	6	1	1	3	0	3	1	2	1	8	1	5	1	2	2	1	1	2	1	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:23309680C>T	uc003swc.3	+	8	1512	c.1351C>T	c.(1351-1353)Ctg>Ttg	p.L451L	GPNMB_uc003swb.3_Silent_p.L439L|GPNMB_uc011jyy.2_Silent_p.L393L|GPNMB_uc011jyz.2_Silent_p.L340L	NM_001005340	NP_001005340	Q14956	GPNMB_HUMAN	Homo sapiens glycoprotein (transmembrane) nmb (GPNMB), transcript variant 1, mRNA.	451					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			TGAGATGTGTCTGCTGACTGT	0.557													T	23309680	C	T	23309680	2	4	117	1	0	0	0	0	0	0	0	1	6674	912	32	2		2	GPNMB	7	23309680	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08		23309680	135828983	45	7813											
FAM188B	84182	broad.mit.edu	37	chr7	30890151	30890151	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggcgggcagggggccgAgagagagccgttgttgcact	6	7	20	8	3	0	2	0	0	0	2	0	4	0	2	2	4	2	4	2	4	0	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:30890151A>G	uc003tbt.3	+	9	1604	c.1527A>G	c.(1525-1527)cgA>cgG	p.R509R	FAM188B_uc010kwe.3_Silent_p.R480R|FAM188B_uc011kac.1_5'Flank	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	509										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAGGGGGCCGAGAGAGAGCCG	0.622													G	30890151	A	G	30890151	2	3	117	1	0	0	0	0	0	0	0	1	5561	291	11	3		3	FAM188B	7	30890151	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	7580471	30890151	128248512	46	7814											
HECW1	23072	broad.mit.edu	37	chr7	43360338	43360338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgccagctcgtactttgtgGaacgtgagtacctttaccat	9	13	9	10	2	0	1	0	1	0	0	1	2	0	2	3	1	6	3	3	1	4	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:43360338G>C	uc003tid.1	+	4	1062	c.457G>C	c.(457-459)Gaa>Caa	p.E153Q	HECW1_uc011kbi.1_Missense_Mutation_p.E153Q|HECW1_uc003tie.1_Missense_Mutation_p.E185Q	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.T152S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GTACTTTGTGGAACGTGAGTA	0.458													C	43360338	G	C	43360338	3	2	117	1	0	0	0	0	1	0	0	0	7097	1175	41	4	467	4	HECW1	7	43360338	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	12470187	43360338	115778325	47	7815											
MUC17	140453	broad.mit.edu	37	chr7	100687031	100687031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccacggtgaccaccaccGctgtccccacgaatactaca	10	6	6	19	3	0	1	0	1	0	0	2	2	2	1	7	1	2	1	7	1	3	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:100687031G>A	uc003uxp.1	+	2	12387	c.12334G>A	c.(12334-12336)Gct>Act	p.A4112T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4112						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)					GACCACCACCGCTGTCCCCAC	0.507													A	100687031	G	A	100687031	3	1	117	1	0	0	0	0	1	0	0	0	10050	1087	38	1	12344	1	MUC17	7	100687031	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	57326693	100687031	58451632	48	7816											
CDHR3	222256	broad.mit.edu	37	chr7	105660912	105660912	+	Frame_Shift_Del	DEL	A	A	-																															cagtggatctgaaagttggcAcaaatattcagaatttcaag																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:105660912delA	uc003vdl.4	+	12	1855	c.1747delA	c.(1747-1749)acafs	p.T583fs	CDHR3_uc003vdk.3_Intron|CDHR3_uc003vdm.4_Frame_Shift_Del_p.T570fs|CDHR3_uc011klt.2_Frame_Shift_Del_p.T495fs|CDHR3_uc003vdn.3_Intron	NM_152750	NP_689963	Q6ZTQ4	CDHR3_HUMAN	Homo sapiens cadherin-related family member 3 (CDHR3), mRNA.	583	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GAAAGTTGGCACAAATATTCA	0.428													-	105660912	A	-	105660912	7	5	117	1	0	1	0	1	0	0	0	0	3150	159	6	0	1797	0	CDHR3	7	105660912	Frame_Shift_Del	DEL	A	TCGA-12-0821-01A-01W-0424-08	4973881	105660912	53477751	49	7817											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558442	113558442	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtatacaaaactcaacttTactgccatctttttgataag	14	14	4	9	1	2	1	1	1	1	0	2	1	2	1	1	0	5	1	1	0	7	7			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:113558442T>A	uc010ljy.1	-	0	641	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	204	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACTCAACTTTACTGCCATCT	0.318													A	113558442	T	A	113558442	4	1	117	1	0	0	0	0	0	1	0	0	12453	1763	61	5	2774	5	PPP1R3A	7	113558442	Nonsense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	7897530	113558442	45580221	50	7818											
BRAF	673	broad.mit.edu	37	chr7	140453141	140453141	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccatcgagatttcactgtAgctagaccaaaatcacctat	13	11	5	12	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	5	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr7:140453141A>T	uc003vwc.4	-	14	1855	c.1794T>A	c.(1792-1794)gcT>gcA	p.A598A		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	598	Protein kinase.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.L597R(16)|p.A598_T599insV(13)|p.L597V(13)|p.L597S(13)|p.L597Q(13)|p.A598V(4)|p.L597L(3)|p.L597_A598insT(2)|p.A598T(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	ATTTCACTGTAGCTAGACCAA	0.368		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453141	A	T	140453141	2	4	117	1	0	0	0	0	0	0	0	1	1505	407	15	5		5	BRAF	7	140453141	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	26894699	140453141	18685522	51	7819											
CSMD1	64478	broad.mit.edu	37	chr8	2832079	2832079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtagtgcacgacggcGccataggtaaacagctctcc	11	6	12	12	3	1	0	0	0	1	0	2	2	1	1	2	3	3	4	2	3	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:2832079G>A	uc022aqr.1	-	55	9024	c.8634C>T	c.(8632-8634)ggC>ggT	p.G2878G	CSMD1_uc011kwj.2_Silent_p.G2208G|CSMD1_uc010lrg.3_Silent_p.G889G	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	2879	Sushi 21.					integral to membrane		p.G2607G(1)|p.G2878G(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCACGACGGCGCCATAGGTAA	0.557													A	2832079	G	A	2832079	2	1	117	1	0	0	0	0	0	0	0	1	3977	1074	38	1		1	CSMD1	8	2832079	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		2832079	143531943	52	7820											
USP17L2	377630	broad.mit.edu	37	chr8	11995987	11995987	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtatgtcaggcactgcaGggaagcgttctcgtagcagg	8	10	15	8	2	2	0	1	0	1	0	3	1	2	1	0	3	3	6	0	3	3	3	rs3988861		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:11995987G>A	uc003wvc.1	-	0	283	c.283C>T	c.(283-285)Ctg>Ttg	p.L95L	LOC100506990_uc011kxp.1_Intron|LOC100506990_uc011kxo.1_Intron	NM_201402	NP_958804	Q6R6M4	U17L2_HUMAN	Homo sapiens ubiquitin specific peptidase 17-like 2 (USP17L2), mRNA.	95					apoptosis|cell cycle|G2/M transition checkpoint|mitotic cell cycle G1/S transition checkpoint|protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L95L(2)		central_nervous_system(1)|kidney(1)|large_intestine(11)|liver(1)|lung(8)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	29						AGGCACTGCAGGGAAGCGTTC	0.567													A	11995987	G	A	11995987	2	1	117	1	0	0	0	0	0	0	0	1	17150	991	35	2		2	USP17L2	8	11995987	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	9163908	11995987	134368035	53	7821											
SLC7A2	6542	broad.mit.edu	37	chr8	17422587	17422587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaaaatctgccattcaaGcaaatgaccatcacccaaga	19	6	5	11	0	3	3	2	1	1	2	3	3	3	3	3	0	2	1	3	0	6	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:17422587G>A	uc011kye.2	+	11	2077	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	SLC7A2_uc011kyc.2_Missense_Mutation_p.A637T|SLC7A2_uc011kyd.2_Missense_Mutation_p.A676T	NM_001164771	NP_001158243	P52569	CTR2_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 2 (SLC7A2), transcript variant 3, mRNA.	637					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	TGCCATTCAAGCAAATGACCA	0.423													A	17422587	G	A	17422587	3	1	117	1	0	0	0	0	1	0	0	0	14791	971	34	2	2216	2	SLC7A2	8	17422587	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	5426600	17422587	128941435	54	7822											
DOK2	9046	broad.mit.edu	37	chr8	21771096	21771096	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacaagaagccttgtttcActgccccgtctcccatcctc	8	11	6	16	1	2	1	1	0	1	1	5	2	3	1	5	0	3	1	5	0	3	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:21771096A>C	uc003wzx.1	-	0	110	c.17T>G	c.(16-18)gTg>gGg	p.V6G	DOK2_uc003wzy.1_Missense_Mutation_p.V6G|DOK2_uc003wzz.1_5'UTR|DOK2_uc010lth.1_5'UTR	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	6	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GCCTTGTTTCACTGCCCCGTC	0.582													C	21771096	A	C	21771096	3	2	117	1	0	0	0	0	1	0	0	0	4736	159	6	5	1241	5	DOK2	8	21771096	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	4348509	21771096	124592926	55	7823											
ELP3	55140	broad.mit.edu	37	chr8	27954764	27954764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctgctgagctgatgatGctgactataggagatgttat	10	12	12	7	0	0	5	0	4	0	1	0	6	0	5	1	1	4	4	1	1	3	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:27954764G>A	uc003xgo.4	+	1	196	c.48G>A	c.(46-48)atG>atA	p.M16I	ELP3_uc003xgn.4_Missense_Mutation_p.M1I|ELP3_uc011las.2_Intron|ELP3_uc011lat.2_5'UTR|ELP3_uc011laq.2_Intron|ELP3_uc011lar.2_5'UTR	NM_018091	NP_060561	Q9H9T3	ELP3_HUMAN	Homo sapiens elongation protein 3 homolog (S. cerevisiae) (ELP3), mRNA.	16					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	histone acetyltransferase activity|iron-sulfur cluster binding|metal ion binding|phosphorylase kinase regulator activity|protein binding			kidney(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.151)|Colorectal(74;0.183)		AGCTGATGATGCTGACTATAG	0.368													A	27954764	G	A	27954764	3	1	117	1	0	0	0	0	1	0	0	0	5122	1319	46	2	54	2	ELP3	8	27954764	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	6183668	27954764	118409258	56	7824											
PCMTD1	115294	broad.mit.edu	37	chr8	52733124	52733124	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattacccacaaatacgtaAgtgttaattctctgtttaac	13	15	5	8	1	1	1	0	1	1	0	2	1	1	1	1	0	3	3	1	0	6	7			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:52733124A>C	uc003xqx.4	-	5	1202	c.861T>G	c.(859-861)acT>acG	p.T287T	PCMTD1_uc011ldm.2_Silent_p.T157T|PCMTD1_uc011ldn.2_Silent_p.T99T|PCMTD1_uc010lya.3_Silent_p.T211T	NM_052937	NP_443169	Q96MG8	PCMD1_HUMAN	Homo sapiens protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1 (PCMTD1), mRNA.	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393													C	52733124	A	C	52733124	2	2	117	1	0	0	0	0	0	0	0	1	11662	59	3	5		5	PCMTD1	8	52733124	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	24778360	52733124	93630898	57	7825											
ANGPT1	284	broad.mit.edu	37	chr8	108276567	108276567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgctgtcccagtgtgaccTtttaaatacaacctgaagtc	10	12	7	12	0	0	2	0	2	0	0	2	2	1	2	4	0	3	1	4	0	5	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr8:108276567T>C	uc003ymn.3	-	7	1686	c.1218A>G	c.(1216-1218)aaA>aaG	p.K406K	ANGPT1_uc011lhv.2_Silent_p.K206K|ANGPT1_uc003ymo.3_Silent_p.K405K	NM_001146	NP_001137	Q15389	ANGP1_HUMAN	Homo sapiens angiopoietin 1 (ANGPT1), transcript variant 1, mRNA.	406	Fibrinogen C-terminal.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CAGTGTGACCTTTTAAATACA	0.393													C	108276567	T	C	108276567	2	2	117	1	0	0	0	0	0	0	0	1	610	1606	56	3		3	ANGPT1	8	108276567	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	55543443	108276567	38087455	58	7826											
MAMDC2	256691	broad.mit.edu	37	chr9	72755159	72755159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggttggacccgagtgaaaGtaaaaccaaacatgtatcgg	15	7	11	8	2	0	1	0	1	0	0	1	3	0	2	2	3	2	3	2	3	5	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr9:72755159G>A	uc004ahm.2	+	7	1710	c.1093G>A	c.(1093-1095)Gta>Ata	p.V365I	MAMDC2_uc004ahn.2_Non-coding_Transcript	NM_153267	NP_694999	Q7Z304	MAMC2_HUMAN	Homo sapiens MAM domain containing 2 (MAMDC2), mRNA.	365	MAM 3.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						CCGAGTGAAAGTAAAACCAAA	0.458													A	72755159	G	A	72755159	3	1	117	1	0	0	0	0	1	0	0	0	9278	1029	36	2	1123	2	MAMDC2	9	72755159	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		72755159	68458272	59	7827											
ATAD1	84896	broad.mit.edu	37	chr10	89550116	89550116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacaaatgtttctttttGataggtaagatgactgtgtc	12	16	8	5	0	2	3	1	2	1	1	3	3	2	3	0	1	1	2	0	1	4	5			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:89550116G>A	uc001kez.1	-	3	712	c.333C>T	c.(331-333)atC>atT	p.I111I	ATAD1_uc010qmr.1_Silent_p.I53I|ATAD1_uc009xth.1_Non-coding_Transcript|ATAD1_uc001key.1_Silent_p.I111I	NM_032810	NP_116199	Q8NBU5	ATAD1_HUMAN	Homo sapiens ATPase family, AAA domain containing 1 (ATAD1), mRNA.	111						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		GTTTCTTTTTGATAGGTAAGA	0.358													A	89550116	G	A	89550116	2	1	117	1	0	0	0	0	0	0	0	1	1075	1280	45	2		2	ATAD1	10	89550116	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		89550116	45984631	60	7828											
MGEA5	10724	broad.mit.edu	37	chr10	103557792	103557792	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcttgatatcccaaacAtaggagtacatgtcataaag	16	11	6	8	0	2	1	1	1	1	0	3	2	3	2	1	1	3	1	1	1	7	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr10:103557792A>C	uc001ktv.2	-	9	2372	c.1929T>G	c.(1927-1929)taT>taG	p.Y643*	MGEA5_uc001ktu.2_Non-coding_Transcript|MGEA5_uc010qqe.1_Nonsense_Mutation_p.Y590*|MGEA5_uc009xws.2_Nonsense_Mutation_p.Y590*|MGEA5_uc001ktw.2_Nonsense_Mutation_p.Y643*	NM_012215	NP_036347	O60502	NCOAT_HUMAN	Homo sapiens meningioma expressed antigen 5 (hyaluronidase) (MGEA5), transcript variant 1, mRNA.	643	Histone acetyltransferase activity (By similarity).				glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		TATCCCAAACATAGGAGTACA	0.418													C	103557792	A	C	103557792	4	2	117	1	0	0	0	0	0	1	0	0	9630	224	8	5	849	5	MGEA5	10	103557792	Nonsense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	14007676	103557792	31976955	61	7829											
OR51B6	390058	broad.mit.edu	37	chr11	5373426	5373426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catgggcattggttctggagGagaaagggccaaggccctca	10	7	15	9	0	2	1	1	0	1	1	2	3	2	2	2	6	0	2	2	6	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:5373426G>A	uc010qzb.2	+	0	689	c.689G>A	c.(688-690)gGa>gAa	p.G230E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G230G(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGTTCTGGAGGAGAAAGGGCC	0.418													A	5373426	G	A	5373426	3	1	117	1	0	0	0	0	1	0	0	0	11168	1174	41	2	691	2	OR51B6	11	5373426	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		5373426	129633090	62	7830											
MICAL2	9645	broad.mit.edu	37	chr11	12225971	12225971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccaagaagttctatGggaagttctgtgctggctcc	8	11	14	8	0	2	1	0	0	2	1	3	3	3	3	2	3	2	4	2	3	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:12225971G>T	uc001mjz.3	+	3	727	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	MICAL2_uc010rch.1_Missense_Mutation_p.G147W|MICAL2_uc001mjy.3_Missense_Mutation_p.G147W|MICAL2_uc001mka.3_Missense_Mutation_p.G147W|MICAL2_uc010rci.2_Missense_Mutation_p.G147W|MICAL2_uc001mkb.3_Missense_Mutation_p.G147W|MICAL2_uc001mkc.3_Missense_Mutation_p.G147W	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	147						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GAAGTTCTATGGGAAGTTCTG	0.552													T	12225971	G	T	12225971	3	4	117	1	0	0	0	0	1	0	0	0	9645	1348	47	4	445	4	MICAL2	11	12225971	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	6852545	12225971	122780545	63	7831											
KCNC1	3746	broad.mit.edu	37	chr11	17757795	17757795	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactgcccagccgacgtGtgcgggccgctctacgagga	6	6	14	15	5	1	0	0	0	1	0	1	3	1	1	3	2	5	2	3	2	1	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:17757795G>T	uc009yhc.1	+	0	301	c.246G>T	c.(244-246)gtG>gtT	p.V82V	KCNC1_uc001mnk.4_Silent_p.V82V	NM_001112741	NP_001106212	P48547	KCNC1_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 1 (KCNC1), transcript variant A, mRNA.	82						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CAGCCGACGTGTGCGGGCCGC	0.677													T	17757795	G	T	17757795	2	4	117	1	0	0	0	0	0	0	0	1	8072	1364	48	4		4	KCNC1	11	17757795	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	5531824	17757795	117248721	64	7832											
UEVLD	55293	broad.mit.edu	37	chr11	18554017	18554017	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttaaaaacacttcactAtttatatcataatatccctg	17	14	1	9	0	2	0	2	0	0	0	3	0	3	0	1	0	2	0	1	0	9	8			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:18554017A>G	uc001mot.3	-	11	1346	c.1266T>C	c.(1264-1266)aaT>aaC	p.N422N	UEVLD_uc001mou.3_3'UTR|UEVLD_uc010rde.2_Silent_p.N292N|UEVLD_uc010rdf.2_Silent_p.N400N|UEVLD_uc010rdg.2_Silent_p.N292N|UEVLD_uc001mov.3_3'UTR	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	422					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						ACACTTCACTATTTATATCAT	0.313													G	18554017	A	G	18554017	2	3	117	1	0	0	0	0	0	0	0	1	17035	446	16	3		3	UEVLD	11	18554017	Silent	SNP	A	TCGA-12-0821-01A-01W-0424-08	796222	18554017	116452499	65	7833											
QSER1	79832	broad.mit.edu	37	chr11	32955067	32955067	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcaagttattggggttgctCtgcaagcatcaaaaaaagaa	16	10	9	6	0	3	1	2	0	1	1	3	1	3	1	0	2	3	5	0	2	7	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:32955067C>G	uc001mty.3	+	3	2143	c.1876C>G	c.(1876-1878)Ctg>Gtg	p.L626V	QSER1_uc001mtz.1_Missense_Mutation_p.L387V|QSER1_uc001mua.3_Missense_Mutation_p.L131V	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	626										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TGGGGTTGCTCTGCAAGCATC	0.378													G	32955067	C	G	32955067	3	3	117	1	0	0	0	0	1	0	0	0	12970	912	32	4	1882	4	QSER1	11	32955067	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	14401050	32955067	102051449	66	7834											
OR5A1	219982	broad.mit.edu	37	chr11	59211078	59211078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccagggcctctgtacacGcatggtggttggggcatatg	7	9	15	10	1	1	0	0	0	1	0	1	1	1	0	2	5	1	4	2	5	2	3	rs143071629	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:59211078G>T	uc001nnx.1	+	0	437	c.437G>T	c.(436-438)cGc>cTc	p.R146L		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						CTCTGTACACGCATGGTGGTT	0.552													T	59211078	G	T	59211078	3	4	117	1	0	0	0	0	1	0	0	0	11215	1087	38	4	439	4	OR5A1	11	59211078	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	26256011	59211078	75795438	67	7835											
ODZ4	26011	broad.mit.edu	37	chr11	78380644	78380644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttgtattgcacgtcaCccagccgagtgatgcggtcg	7	10	11	13	4	2	1	1	1	1	0	3	2	2	1	3	1	3	2	3	1	1	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:78380644C>A	uc001ozl.4	-	31	7209	c.6746G>T	c.(6745-6747)gGt>gTt	p.G2249V	ODZ4_uc001ozk.4_Missense_Mutation_p.G474V	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2249					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TTGCACGTCACCCAGCCGAGT	0.562													A	78380644	C	A	78380644	3	1	117	1	0	0	0	0	1	0	0	0	10913	507	18	4	1575	4	ODZ4	11	78380644	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	19169566	78380644	56625872	68	7836											
APOA4	337	broad.mit.edu	37	chr11	116691955	116691955	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaggttgccacgcacGtcctcggccaagggcgccag	6	5	12	18	4	1	0	1	0	0	0	3	0	2	0	6	3	1	2	6	3	1	1	rs146365840	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr11:116691955G>A	uc001pps.1	-	2	923	c.819C>T	c.(817-819)gaC>gaT	p.D273D		NM_000482	NP_000473			Homo sapiens apolipoprotein A-IV (APOA4), mRNA.											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TGCCACGCACGTCCTCGGCCA	0.672													A	116691955	G	A	116691955	2	1	117	1	0	0	0	0	0	0	0	1	786	1136	40	1		1	APOA4	11	116691955	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	38311311	116691955	18314561	69	7837											
TWF1	5756	broad.mit.edu	37	chr12	44200088	44200100	+	Frame_Shift_Del	DEL	GCCAGCGGCCCCG	GCCAGCGGCCCCG	-																															cggctccggcgctgagtgcaGccagcggccccggccggcgg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:44200088_44200100delGCCAGCGGCCCCG	uc001roa.3	-	0	79_91	c.51_63delCGGGGCCGCTGGC	c.(49-63)gccggggccgctggcfs	p.A17fs	TWF1_uc001rnz.3_5'Flank|TWF1_uc001rob.3_5'UTR|TWF1_uc001roc.3_5'UTR	NM_002822	NP_002813	Q12792	TWF1_HUMAN	Homo sapiens twinfilin, actin-binding protein, homolog 1 (Drosophila) (TWF1), transcript variant 2, mRNA.	0	ADF-H 1.					actin cytoskeleton|cytoplasm	actin binding|protein tyrosine kinase activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)|stomach(1)	14	all_cancers(12;0.00125)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.0474)		GCTGAGTGCAGCCAgcggccccggccggcggcc	0.775													-	44200100	GCCAGCGGCCCCG	-	44200088	7	5	117	1	0	1	0	1	0	0	0	0	16883	958	34	0	1127	0	TWF1	12	44200088	Frame_Shift_Del	DEL	GCCAGCGGCCCCG	TCGA-12-0821-01A-01W-0424-08		44200088	89651807	70	7838											
ZBTB39	9880	broad.mit.edu	37	chr12	57398062	57398062	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgaagggagcaggggTgtcatggtcttctgtctttg	6	12	17	6	1	4	1	1	1	3	0	4	3	4	3	0	5	1	1	0	5	1	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:57398062T>G	uc001sml.2	-	1	793	c.640A>C	c.(640-642)Acc>Ccc	p.T214P	ZBTB39_uc021qzg.1_Missense_Mutation_p.T214P	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D213G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GGAGCAGGGGTGTCATGGTCT	0.572													G	57398062	T	G	57398062	3	3	117	1	0	0	0	0	1	0	0	0	17641	1696	59	5	1502	5	ZBTB39	12	57398062	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	13197974	57398062	76453833	71	7839											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450302	85450302	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagaaaataatcaaagaTaatcagcagaaaaagataca	24	5	7	5	0	2	4	2	0	0	4	2	5	2	4	0	0	3	2	0	0	8	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:85450302T>C	uc001tac.3	+	7	1842	c.1731T>C	c.(1729-1731)gaT>gaC	p.D577D	LRRIQ1_uc021rbo.1_Silent_p.D455D|LRRIQ1_uc001taa.1_Silent_p.D552D	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	577										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TAATCAAAGATAATCAGCAGA	0.289													C	85450302	T	C	85450302	2	2	117	1	0	0	0	0	0	0	0	1	9099	1403	49	3		3	LRRIQ1	12	85450302	Silent	SNP	T	TCGA-12-0821-01A-01W-0424-08	28052240	85450302	48401593	72	7840											
WSB2	55884	broad.mit.edu	37	chr12	118490112	118490113	+	Splice_Site	INS	-	-	A																															gccccagtacgagaatacttINSacaactgctcctccaacggc																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr12:118490112_118490113insA	uc001twr.2	-	2	280	c.182_splice	c.e2+1	p.F61_splice	WSB2_uc010sza.1_Intron|WSB2_uc010szb.1_Splice_Site|WSB2_uc009zws.1_Splice_Site_p.F61_splice	NM_018639	NP_061109	Q9NYS7	WSB2_HUMAN	Homo sapiens WD repeat and SOCS box containing 2 (WSB2), mRNA.	61					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGAGAATACTTACAACTGCTCC	0.55													A	118490113	-	A	118490112	8	5	117	1	0	1	1	0	0	0	1	0	17507	1769	61	0		0	WSB2	12	118490112	Splice_Site	INS	-	TCGA-12-0821-01A-01W-0424-08	33039810	118490112	15361783	73	7841											
ATP8A2	51761	broad.mit.edu	37	chr13	26411335	26411335	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccttcactctgggaaTctttgagaggtcttgcactc	6	12	10	13	1	4	1	1	1	3	1	5	3	4	2	2	2	1	1	2	2	1	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:26411335T>A	uc001uqk.3	+	28	2931	c.2789T>A	c.(2788-2790)aTc>aAc	p.I930N	ATP8A2_uc010tdi.2_Missense_Mutation_p.I865N|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.I480N	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	890					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCTGGGAATCTTTGAGAGG	0.502													A	26411335	T	A	26411335	3	1	117	1	0	0	0	0	1	0	0	0	1198	1435	50	5	2903	5	ATP8A2	13	26411335	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08		26411335	88758543	74	7842											
WASF3	10810	broad.mit.edu	37	chr13	27256966	27256967	+	Frame_Shift_Ins	INS	-	-	C																															cacccccgggcccaccacctINScccccgccaggccctcctgg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:27256966_27256967insC	uc001uqv.3	+	8	1431_1432	c.1206_1207insC	c.(1204-1209)cctcccfs	p.P402fs	WASF3_uc001uqw.3_Frame_Shift_Ins_p.P399fs	NM_006646	NP_006637	Q9UPY6	WASF3_HUMAN	Homo sapiens WAS protein family, member 3 (WASF3), mRNA.	402	Poly-Pro.				actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		GCCCACCACCTCCCCCGCCAGG	0.708													C	27256967	-	C	27256966	7	5	117	1	0	1	1	0	0	0	0	0	17356	1538	54	0	1232	0	WASF3	13	27256966	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	845631	27256966	87912912	75	7843											
FLT1	2321	broad.mit.edu	37	chr13	28880897	28880897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccaacagagtgctgctgtCgccctggtagtcctaggggg	6	8	16	11	1	0	1	0	0	0	1	2	1	1	1	3	4	3	3	3	4	3	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:28880897C>T	uc001usb.3	-	28	4018	c.3733G>A	c.(3733-3735)Gac>Aac	p.D1245N	FLT1_uc010aap.2_Missense_Mutation_p.D250N|FLT1_uc010aaq.2_Missense_Mutation_p.D370N|FLT1_uc001usa.3_Missense_Mutation_p.D463N	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1245					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GTGCTGCTGTCGCCCTGGTAG	0.552													T	28880897	C	T	28880897	3	4	117	1	0	0	0	0	1	0	0	0	5990	884	31	1	291	1	FLT1	13	28880897	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	1623931	28880897	86288981	76	7844											
FLT1	2321	broad.mit.edu	37	chr13	29004213	29004213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccggcgagggaaatgcCttcactttcatagagagccg	10	9	11	11	3	2	1	2	0	0	1	3	4	3	2	3	2	2	0	3	2	2	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:29004213C>T	uc001usb.3	-	7	1365	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K	FLT1_uc010aar.1_Silent_p.K360K|FLT1_uc001usc.3_Silent_p.K360K|FLT1_uc010tdp.1_Silent_p.K360K	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	360	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGGGAAATGCCTTCACTTTCA	0.443													T	29004213	C	T	29004213	2	4	117	1	0	0	0	0	0	0	0	1	5990	680	24	2		2	FLT1	13	29004213	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	123316	29004213	86165665	77	7845											
DOCK9	23348	broad.mit.edu	37	chr13	99549805	99549805	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttattgctgtcttgcctgTagatggcagaaaatctggca	9	13	11	8	0	2	2	0	0	2	2	2	2	2	2	1	2	2	5	1	2	4	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:99549805T>A	uc001vnt.2	-	14	1704	c.1649A>T	c.(1648-1650)tAc>tTc	p.Y550F	DOCK9_uc001vnw.2_Missense_Mutation_p.Y549F|DOCK9_uc021rlw.1_Missense_Mutation_p.Y549F|DOCK9_uc001vnv.1_Non-coding_Transcript|DOCK9_uc010tir.1_Missense_Mutation_p.Y550F|DOCK9_uc010tis.1_Missense_Mutation_p.Y549F|DOCK9_uc010tit.1_Missense_Mutation_p.Y550F|DOCK9_uc010afu.1_Missense_Mutation_p.Y365F	NM_015296	NP_056111	Q9BZ29	DOCK9_HUMAN	Homo sapiens dedicator of cytokinesis 9 (DOCK9), transcript variant 1, mRNA.	550					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GTCTTGCCTGTAGATGGCAGA	0.383													A	99549805	T	A	99549805	3	1	117	1	0	0	0	0	1	0	0	0	4733	1638	57	5	4789	5	DOCK9	13	99549805	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	70545592	99549805	15620073	78	7846											
COL4A2	1284	broad.mit.edu	37	chr13	111132630	111132630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccctgtgggcatgaaagGtctctctggtgacagaggag	8	9	16	8	0	2	3	0	2	2	1	3	4	2	4	1	5	0	1	1	5	1	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr13:111132630G>T	uc001vqx.3	+	30	2940	c.2651G>T	c.(2650-2652)gGt>gTt	p.G884V		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	884	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GGCATGAAAGGTCTCTCTGGT	0.582													T	111132630	G	T	111132630	3	4	117	1	0	0	0	0	1	0	0	0	3721	1261	44	4	2769	4	COL4A2	13	111132630	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	11582825	111132630	4037248	79	7847											
ZFYVE26	23503	broad.mit.edu	37	chr14	68247033	68247033	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaggtctgccagtcacaCcacactgggggagactgcaa	11	6	11	13	0	3	1	2	0	1	1	3	2	3	1	2	3	2	1	2	3	2	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:68247033C>T	uc001xka.2	-	22	4738	c.4599G>A	c.(4597-4599)tgG>tgA	p.W1533*	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Nonsense_Mutation_p.W1533*	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	1533					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCAGTCACACCACACTGGGG	0.502													T	68247033	C	T	68247033	4	4	117	1	0	0	0	0	0	1	0	0	17769	508	18	2	3100	2	ZFYVE26	14	68247033	Nonsense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		68247033	39102507	80	7848											
NDUFB1	4707	broad.mit.edu	37	chr14	92588104	92588104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcccgcacggagcagagggGtgacgccagcaaatcatact	11	4	13	13	4	1	2	1	1	0	1	1	3	1	3	2	3	3	3	2	3	2	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:92588104G>C	uc001yaf.3	-	0	50	c.18C>G	c.(16-18)caC>caG	p.H6Q	NDUFB1_uc001yag.1_Non-coding_Transcript|CPSF2_uc001yah.2_5'Flank	NM_004545	NP_004536	O75438	NDUB1_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 1, 7kDa (NDUFB1), nuclear gene encoding mitochondrial protein, mRNA.	14					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(1)|lung(1)	2		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.205)	NADH(DB00157)	GAGCAGAGGGGTGACGCCAGC	0.517													C	92588104	G	C	92588104	3	2	117	1	0	0	0	0	1	0	0	0	10354	1252	44	4	311	4	NDUFB1	14	92588104	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	24341071	92588104	14761436	81	7849											
SERPINA1	5265	broad.mit.edu	37	chr14	94849084	94849084	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgacagtgaaggcttctGagtggtacaactttttaaca	12	13	10	6	0	1	3	0	3	1	0	1	3	1	3	0	2	3	3	0	2	4	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr14:94849084G>T	uc001ycy.4	-	3	1045	c.491C>A	c.(490-492)tCa>tAa	p.S164*	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auy.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ycz.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auz.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010ava.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydb.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010avb.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001ydc.4_Nonsense_Mutation_p.S164*|SERPINA1_uc010auw.3_Nonsense_Mutation_p.S164*|SERPINA1_uc010aux.3_Nonsense_Mutation_p.S164*|SERPINA1_uc001yda.1_Nonsense_Mutation_p.S164*	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	164					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GAAGGCTTCTGAGTGGTACAA	0.502													T	94849084	G	T	94849084	4	4	117	1	0	0	0	0	0	1	0	0	14179	1294	45	4	781	4	SERPINA1	14	94849084	Nonsense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	2260980	94849084	12500456	82	7850											
LCMT2	9836	broad.mit.edu	37	chr15	43622424	43622425	+	Frame_Shift_Del	DEL	GA	GA	-																															agcgagtcgaagccagcgccGagagacaagatctgcgcgcg																										TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:43622424_43622425delGA	uc001zrg.3	-	0	396_397	c.263_264delTC	c.(262-264)ctcfs	p.L88fs	ADAL_uc001zrh.3_5'Flank|ADAL_uc010udo.2_5'Flank	NM_014793	NP_055608	O60294	LCMT2_HUMAN	Homo sapiens leucine carboxyl methyltransferase 2 (LCMT2), mRNA.	88					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	AGCCAGCGCCGAGAGACAAGAT	0.668													-	43622425	GA	-	43622424	7	5	117	1	0	1	0	1	0	0	0	0	8738	1045	37	0	1800	0	LCMT2	15	43622424	Frame_Shift_Del	DEL	GA	TCGA-12-0821-01A-01W-0424-08		43622424	58908968	83	7851											
UNC13C	440279	broad.mit.edu	37	chr15	54624283	54624283	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaccagttacataactctTtgaggattgatctgtcaaag	12	13	9	7	0	3	2	1	2	2	0	3	4	3	4	1	2	2	1	1	2	3	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:54624283T>A	uc021smr.1	+	12	4462	c.4462T>A	c.(4462-4464)Ttg>Atg	p.L1488M	UNC13C_uc021sms.1_Missense_Mutation_p.L1490M|UNC13C_uc002acl.3_Missense_Mutation_p.L320M	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1490					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ACATAACTCTTTGAGGATTGA	0.328													A	54624283	T	A	54624283	3	1	117	1	0	0	0	0	1	0	0	0	17088	1838	64	5	4518	5	UNC13C	15	54624283	Missense_Mutation	SNP	T	TCGA-12-0821-01A-01W-0424-08	11001859	54624283	47907109	84	7852											
MCTP2	55784	broad.mit.edu	37	chr15	94899492	94899492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatgacagagatgtttGtccagttaaaactgggagat	14	10	12	5	0	0	3	0	1	0	2	1	6	1	3	1	1	2	3	1	1	3	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr15:94899492G>T	uc002btj.3	+	7	1197	c.1132G>T	c.(1132-1134)Gtc>Ttc	p.V378F	MCTP2_uc010urg.1_Missense_Mutation_p.V378F|MCTP2_uc002bti.2_Missense_Mutation_p.V378F|MCTP2_uc010boj.3_Missense_Mutation_p.V107F|MCTP2_uc010bok.3_Missense_Mutation_p.V378F|MCTP2_uc002btk.4_5'UTR|MCTP2_uc002btl.3_5'UTR	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	378	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGAGATGTTTGTCCAGTTAAA	0.348													T	94899492	G	T	94899492	3	4	117	1	0	0	0	0	1	0	0	0	9476	1377	48	4	1162	4	MCTP2	15	94899492	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	40275209	94899492	7631900	85	7853											
CLEC16A	23274	broad.mit.edu	37	chr16	11118694	11118694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagacccttcctggatatgGtgtaccacgcgctggacagc	8	8	11	14	2	0	1	0	0	0	1	1	3	1	3	4	3	2	2	4	3	2	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:11118694G>C	uc021tcy.1	+	12	1683	c.1453G>C	c.(1453-1455)Gtg>Ctg	p.V485L	CLEC16A_uc002dan.4_Missense_Mutation_p.V467L|CLEC16A_uc002dao.3_Missense_Mutation_p.V483L	NM_015226	NP_056041	Q2KHT3	CL16A_HUMAN	Homo sapiens C-type lectin domain family 16, member A (CLEC16A), transcript variant 1, mRNA.	485								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCTGGATATGGTGTACCACGC	0.547													C	11118694	G	C	11118694	3	2	117	1	0	0	0	0	1	0	0	0	3531	1261	44	4	1499	4	CLEC16A	16	11118694	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08		11118694	79236059	86	7854											
CHST4	10164	broad.mit.edu	37	chr16	71570968	71570968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagtgggagaacagcCgggccctgtgttctgcacct	6	11	12	12	1	3	1	1	0	2	1	3	2	3	1	3	2	3	2	3	2	1	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:71570968C>T	uc021tkt.1	+	0	388	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CHST4_uc002fan.3_Missense_Mutation_p.R130W|CHST4_uc002fao.3_Missense_Mutation_p.R130W	NM_005769	NP_005760	Q8NCG5	CHST4_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4 (CHST4), transcript variant 1, mRNA.	130					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						GGAGAACAGCCGGGCCCTGTG	0.572													T	71570968	C	T	71570968	3	4	117	1	0	0	0	0	1	0	0	0	3436	643	23	1	390	1	CHST4	16	71570968	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	60452274	71570968	18783785	87	7855											
ZCCHC14	23174	broad.mit.edu	37	chr16	87448975	87448975	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtaaggctcaaaaacTttcacagaaaaaacaaatta	20	9	4	8	0	3	1	3	0	0	1	3	1	3	1	0	1	2	2	0	1	8	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr16:87448975T>G	uc002fjz.1	-	9	1000	c.973_splice	c.e9-1	p.F325_splice	ZCCHC14_uc002fka.1_Splice_Site|ZCCHC14_uc002fkb.3_Splice_Site_p.F101_splice	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	325					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		GCTCAAAAACTTTCACAGAAA	0.398													G	87448975	T	G	87448975	5	3	117	1	0	0	0	0	0	0	1	0	17684	1623	56	5	1898	5	ZCCHC14	16	87448975	Splice_Site	SNP	T	TCGA-12-0821-01A-01W-0424-08	15878007	87448975	2905778	88	7856											
ALOX15	246	broad.mit.edu	37	chr17	4542381	4542381	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctcttccagctcttcttcCcggtgtttctggaacaggcc	4	14	8	15	1	4	0	0	0	4	0	7	1	6	1	3	3	2	2	3	3	1	4	rs146477215		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr17:4542381C>G	uc002fyh.3	-	2	409	c.384G>C	c.(382-384)cgG>cgC	p.R128R	ALOX15_uc010vsd.2_Silent_p.R89R|ALOX15_uc010vse.2_Silent_p.R150R	NM_001140	NP_001131	P16050	LOX15_HUMAN	Homo sapiens arachidonate 15-lipoxygenase (ALOX15), mRNA.	128	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R128R(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCTCTTCTTCCCGGTGTTTCT	0.577													G	4542381	C	G	4542381	2	3	117	1	0	0	0	0	0	0	0	1	538	610	22	4		4	ALOX15	17	4542381	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08		4542381	76652829	89	7857											
DAPK3	1613	broad.mit.edu	37	chr19	3961153	3961153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaacggggatgcaccGctcaggctgcgagacaggcg	9	3	16	13	4	1	1	1	0	0	1	1	4	1	3	2	5	3	3	2	5	1	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:3961153G>A	uc002lzc.1	-	5	730	c.636C>T	c.(634-636)agC>agT	p.S212S	DAPK3_uc002lzb.1_5'UTR|DAPK3_uc002lzd.1_Silent_p.S212S	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	212	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGGATGCACCGCTCAGGCTGC	0.662													A	3961153	G	A	3961153	2	1	117	1	0	0	0	0	0	0	0	1	4271	1078	38	1		1	DAPK3	19	3961153	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08		3961153	55167830	90	7858											
TSPAN16	26526	broad.mit.edu	37	chr19	11411902	11411902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgtggccttggaacacaCcttcgtgaccctgaggaaga	11	8	12	10	1	0	4	0	2	0	2	1	6	0	6	3	3	1	0	3	3	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:11411902C>T	uc002mqv.1	+	3	518	c.368C>T	c.(367-369)aCc>aTc	p.T123I	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	123						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TTGGAACACACCTTCGTGACC	0.498													T	11411902	C	T	11411902	3	4	117	1	0	0	0	0	1	0	0	0	16741	507	18	2	382	2	TSPAN16	19	11411902	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08	7450749	11411902	47717081	91	7859											
CYP4F12	66002	broad.mit.edu	37	chr19	15791069	15791069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagctgccattgcacccaAggataatctcttcatcaggt	10	11	8	12	0	4	0	3	0	1	0	5	1	4	1	2	2	3	2	2	2	2	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:15791069A>G	uc002nbl.3	+	3	478	c.359A>G	c.(358-360)aAg>aGg	p.K120R	CYP4F12_uc010xoo.2_Missense_Mutation_p.K120R|CYP4F12_uc010xop.2_Missense_Mutation_p.K120R	NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					ATTGCACCCAAGGATAATCTC	0.562													G	15791069	A	G	15791069	3	3	117	1	0	0	0	0	1	0	0	0	4220	72	3	3	369	3	CYP4F12	19	15791069	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	4379167	15791069	43337914	92	7860											
YJEFN3	51079	broad.mit.edu	37	chr19	19638108	19638108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcctacaaatcgaggaCttcgaggctcgcatcgcgct	9	7	12	13	6	0	0	0	0	0	0	4	3	0	1	1	3	1	3	1	3	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:19638108C>T	uc002nmt.2	+						YJEFN3_uc021uqu.1_Silent_p.D64D|YJEFN3_uc021uqv.1_Silent_p.D64D|YJEFN3_uc021uqw.1_Silent_p.D64D|YJEFN3_uc010ecf.2_5'Flank|YJEFN3_uc002nmu.2_5'Flank	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.											NS(1)|breast(1)|lung(3)	5						AAATCGAGGACTTCGAGGCTC	0.642													T	19638108	C	T	19638108	2	4	117	1	0	0	0	0	0	0	0	1	17586	564	20	2		2	YJEFN3	19	19638108	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	3847039	19638108	39490875	93	7861											
ZNF536	9745	broad.mit.edu	37	chr19	30934639	30934639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccggcccaaccccgAggagaagccccccgcatccc	8	2	8	23	3	0	1	0	0	0	1	2	3	2	1	10	2	2	1	10	2	2	0			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:30934639A>G	uc002nsu.1	+	1	308	c.170A>G	c.(169-171)gAg>gGg	p.E57G	ZNF536_uc010edd.1_Missense_Mutation_p.E57G	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	57					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.P56A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCCAACCCCGAGGAGAAGCCC	0.677													G	30934639	A	G	30934639	3	3	117	1	0	0	0	0	1	0	0	0	18075	304	11	3	172	3	ZNF536	19	30934639	Missense_Mutation	SNP	A	TCGA-12-0821-01A-01W-0424-08	11296531	30934639	28194344	94	7862											
GPR4	2828	broad.mit.edu	37	chr19	46094672	46094672	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtcatggaacaggggCgccgagttggcgcccagctc	7	6	15	13	4	1	0	1	0	0	0	3	2	1	1	2	4	3	3	2	4	1	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:46094672C>T	uc002pcm.3	-	1	1398	c.453G>A	c.(451-453)gcG>gcA	p.A151A	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.A151A	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	151						integral to plasma membrane	G-protein coupled receptor activity	p.A151S(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GGAACAGGGGCGCCGAGTTGG	0.657													T	46094672	C	T	46094672	2	4	117	1	0	0	0	0	0	0	0	1	6748	755	27	1		1	GPR4	19	46094672	Silent	SNP	C	TCGA-12-0821-01A-01W-0424-08	15160033	46094672	13034311	95	7863											
ZNF814	730051	broad.mit.edu	37	chr19	58385050	58385050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataagatctttctctagggtGaactcgctgatgtagaatga	12	13	10	6	1	2	5	0	3	2	2	4	5	2	5	0	1	1	2	0	1	5	4			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr19:58385050G>A	uc002qqo.2	-	2	1980	c.1708C>T	c.(1708-1710)Cac>Tac	p.H570Y	ZNF814_uc002qqk.2_Intron|ZNF814_uc010yhl.2_Intron	NM_001144989	NP_001138461	B7Z6K7	ZN814_HUMAN	Homo sapiens zinc finger protein 814 (ZNF814), mRNA.	570					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						TCTCTAGGGTGAACTCGCTGA	0.468													A	58385050	G	A	58385050	3	1	117	1	0	0	0	0	1	0	0	0	18275	1290	45	2	863	2	ZNF814	19	58385050	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	12290378	58385050	743933	96	7864											
SRMS	6725	broad.mit.edu	37	chr20	62172863	62172863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacgagcacgttccgggCggccaagtcccggtgcacaa	8	5	13	15	5	0	0	0	0	0	0	3	1	3	0	4	3	2	3	4	3	2	1	rs61740255		TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr20:62172863C>T	uc002yfi.1	-	5	1098	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	353	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			ACGTTCCGGGCGGCCAAGTCC	0.706													T	62172863	C	T	62172863	3	4	117	1	0	0	0	0	1	0	0	0	15248	768	27	1	421	1	SRMS	20	62172863	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		62172863	852657	97	7865											
ZNRF3	84133	broad.mit.edu	37	chr22	29440867	29440867	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaatcaagctgaagcagCgacgcagtcaggtagtgcct	13	7	11	10	2	3	1	3	1	0	0	3	2	3	1	1	1	4	4	1	1	5	1			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:29440867C>T	uc003aeg.3	+	4	733	c.733C>T	c.(733-735)Cga>Tga	p.R245*	ZNRF3_uc021wnq.1_Nonsense_Mutation_p.R145*	NM_001206998	NP_001193927	Q9ULT6	ZNRF3_HUMAN	Homo sapiens zinc and ring finger 3 (ZNRF3), transcript variant 1, mRNA.	245						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCTGAAGCAGCGACGCAGTCA	0.512													T	29440867	C	T	29440867	4	4	117	1	0	0	0	0	0	1	0	0	18312	760	27	1	447	1	ZNRF3	22	29440867	Nonsense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		29440867	21863699	98	7866											
GCAT	23464	broad.mit.edu	37	chr22	38211771	38211771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgctgtcgttggctgcGcctccaaggccctagatctg	5	10	11	15	2	1	1	0	0	1	1	3	1	2	1	4	2	2	3	4	2	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chr22:38211771G>A	uc003aua.2	+	6	1057	c.994G>A	c.(994-996)Gcc>Acc	p.A332T	GCAT_uc003atz.3_Missense_Mutation_p.A306T	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CGTTGGCTGCGCCTCCAAGGC	0.657													A	38211771	G	A	38211771	3	1	117	1	0	0	0	0	1	0	0	0	6338	1087	38	1	1020	1	GCAT	22	38211771	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	8770904	38211771	13092795	99	7867											
NXF3	56000	broad.mit.edu	37	chrX	102339283	102339283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcactgtgatcttgaacCagctccctaaggtcccatcc	9	10	6	16	0	2	2	1	2	1	0	5	2	5	2	4	1	2	1	4	1	2	2			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:102339283C>G	uc004eju.3	-	2	409	c.338G>C	c.(337-339)tGg>tCg	p.W113S	NXF3_uc010noi.1_5'Flank|NXF3_uc011mrw.1_Missense_Mutation_p.W113S|NXF3_uc011mrx.1_Missense_Mutation_p.W24S	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	113	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTTGAACCAGCTCCCTAA	0.463													G	102339283	C	G	102339283	3	3	117	1	0	0	0	0	1	0	0	0	10861	595	21	4	1325	4	NXF3	23	102339283	Missense_Mutation	SNP	C	TCGA-12-0821-01A-01W-0424-08		102339283	52931277	100	7868											
WDR44	54521	broad.mit.edu	37	chrX	117527112	117527112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagcctgttccagcacGcccacctcctccaactaatt	12	8	5	16	1	0	1	0	0	0	1	3	1	3	1	6	0	3	2	6	0	4	3			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:117527112G>A	uc004eqn.3	+	3	1135	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_uc004eqo.3_Missense_Mutation_p.R235H|WDR44_uc011mtr.2_Missense_Mutation_p.R210H|WDR44_uc010nqi.3_5'UTR	NM_019045	NP_061918	Q5JSH3	WDR44_HUMAN	Homo sapiens WD repeat domain 44 (WDR44), transcript variant 1, mRNA.	235	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522													A	117527112	G	A	117527112	3	1	117	1	0	0	0	0	1	0	0	0	17398	1087	38	1	718	1	WDR44	23	117527112	Missense_Mutation	SNP	G	TCGA-12-0821-01A-01W-0424-08	15187829	117527112	37743448	101	7869											
STAG2	10735	broad.mit.edu	37	chrX	123176497	123176497	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgaagaattcgatgaggTaacttactaccttaagtgtt	13	13	9	6	1	0	3	0	2	0	1	1	5	0	3	1	1	3	2	1	1	6	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:123176497T>C	uc004eua.3	+	7	866	c.462_splice	c.e7+2	p.E154_splice	STAG2_uc004etz.4_Splice_Site_p.E154_splice|STAG2_uc004eub.3_Splice_Site_p.E154_splice|STAG2_uc004euc.3_Splice_Site_p.E154_splice|STAG2_uc004eud.3_Splice_Site_p.E154_splice|STAG2_uc004eue.3_Splice_Site_p.E154_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	154					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTCGATGAGGTAACTTACTAC	0.333													C	123176497	T	C	123176497	5	2	117	1	0	0	0	0	0	0	1	0	15339	1652	57	3	482	3	STAG2	23	123176497	Splice_Site	SNP	T	TCGA-12-0821-01A-01W-0424-08	5649385	123176497	32094063	102	7870											
GPC4	2239	broad.mit.edu	37	chrX	132458560	132458560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttcaagtagttctttgaaGaattctgaaaccaacaccaa	15	13	5	8	0	3	3	1	2	2	1	3	3	3	3	2	0	2	2	2	0	7	6			TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:132458560G>A	uc004exc.1	-	2	536	c.324C>T	c.(322-324)ttC>ttT	p.F108F	GPC4_uc011mvg.1_Silent_p.F38F	NM_001448	NP_001439	O75487	GPC4_HUMAN	Homo sapiens glypican 4 (GPC4), mRNA.	108					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GTTCTTTGAAGAATTCTGAAA	0.294													A	132458560	G	A	132458560	2	1	117	1	0	0	0	0	0	0	0	1	6654	933	33	2		2	GPC4	23	132458560	Silent	SNP	G	TCGA-12-0821-01A-01W-0424-08	9282063	132458560	22812000	103	7871											
SPANXC	64663	broad.mit.edu	37	chrX	140335819	140335820	+	Frame_Shift_Ins	INS	-	-	T																															cgaggactcagatgttttcaINStttttttaggagcaggttgc																								rs57835830	byFrequency	TCGA-12-0821-01A-01W-0424-08	TCGA-12-0821-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	357e3a3c-cceb-4b38-bc35-6fe8f5be5ac8	b8bd0920-2514-4261-a8fc-0130a4fd6970	g.chrX:140335819_140335820insT	uc004fbk.3	-	1	180_181	c.124_125insA	c.(124-126)atgfs	p.M42fs	SPANXC_uc004fbl.3_Non-coding_Transcript	NM_022661	NP_073152	Q9NY87	SPNXC_HUMAN	Homo sapiens SPANX family, member C (SPANXC), mRNA.	42						cytoplasm|nucleus		p.M42L(2)|p.M42I(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					AGATGTTTTCATTTTTTTAGGA	0.5													T	140335820	-	T	140335819	7	5	117	1	0	1	1	0	0	0	0	0	15083	217	8	0	172	0	SPANXC	23	140335819	Frame_Shift_Ins	INS	-	TCGA-12-0821-01A-01W-0424-08	7877259	140335819	14934741	104	7872											
UBR4	23352	broad.mit.edu	37	chr1	19484449	19484449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctccactgtaattcatccGcacattctcaaaggcacctt	10	12	5	14	1	3	0	2	0	2	0	6	0	4	0	3	1	0	3	3	1	2	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:19484449G>A	uc001bbi.3	-	39	5624	c.5620C>T	c.(5620-5622)Cgg>Tgg	p.R1874W	UBR4_uc001bbl.1_5'Flank|UBR4_uc001bbm.1_Missense_Mutation_p.R1085W	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	1874					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAATTCATCCGCACATTCTCA	0.537													A	19484449	G	A	19484449	3	1	118	1	0	0	0	0	1	0	0	0	17006	1086	38	1	10199	1	UBR4	1	19484449	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		19484449	229766172	1	7873											
C1orf173	127254	broad.mit.edu	37	chr1	75038513	75038513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctctctttgatgctgtgtCctccatgggtcctgtgtcct	2	17	9	13	0	2	1	0	1	2	0	7	1	6	1	4	1	1	1	4	1	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75038513C>G	uc001dgg.3	-	13	3100	c.2881G>C	c.(2881-2883)Gac>Cac	p.D961H		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	961	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GATGCTGTGTCCTCCATGGGT	0.522													G	75038513	C	G	75038513	3	3	118	1	0	0	0	0	1	0	0	0	2034	855	30	4	1715	4	C1orf173	1	75038513	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	55554064	75038513	174212108	2	7874											
C1orf173	127254	broad.mit.edu	37	chr1	75055650	75055650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagatgaccttctggcaCtttcatctgtgctgctgtca	8	13	10	10	0	4	3	2	1	2	2	4	4	4	3	1	1	2	3	1	1	1	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:75055650C>A	uc001dgg.3	-	11	2060	c.1841G>T	c.(1840-1842)aGt>aTt	p.S614I	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.S408I	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	614	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCTGGCACTTTCATCTGT	0.448													A	75055650	C	A	75055650	3	1	118	1	0	0	0	0	1	0	0	0	2034	565	20	4	2763	4	C1orf173	1	75055650	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	17137	75055650	174194971	3	7875											
NGF	4803	broad.mit.edu	37	chr1	115828831	115828831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtacaatatgagttccagtGctttgagtcaatgccccggc	9	11	11	10	1	1	2	1	2	0	0	2	2	2	2	3	2	3	3	3	2	4	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:115828831G>A	uc021osd.1	-	0	586	c.586C>T	c.(586-588)Cac>Tac	p.H196Y	NGF_uc001efu.1_Missense_Mutation_p.H196Y	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	196					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	GAGTTCCAGTGCTTTGAGTCA	0.517													A	115828831	G	A	115828831	3	1	118	1	0	0	0	0	1	0	0	0	10471	1319	46	2	143	2	NGF	1	115828831	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	40773181	115828831	133421790	4	7876											
SPTA1	6708	broad.mit.edu	37	chr1	158641934	158641934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctcatactgacgatgaCgctcgtcccacagttccagc	9	9	8	15	3	1	2	1	2	0	0	4	3	3	2	2	0	3	3	2	0	1	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:158641934C>T	uc001fst.1	-	10	1602	c.1403G>A	c.(1402-1404)cGt>cAt	p.R468H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	468					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R468H(2)|p.E467K(1)|p.R468C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTGACGATGACGCTCGTCCCA	0.438													T	158641934	C	T	158641934	3	4	118	1	0	0	0	0	1	0	0	0	15212	536	19	1	6024	1	SPTA1	1	158641934	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	42813103	158641934	90608687	5	7877											
FAM5C	339479	broad.mit.edu	37	chr1	190067205	190067205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcaatttggcattaaaCgcctgcagagcagattggat	11	12	11	7	1	0	2	0	0	0	2	0	3	0	3	1	3	3	4	1	3	3	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:190067205C>T	uc001gse.1	-	7	2476	c.2244G>A	c.(2242-2244)gcG>gcA	p.A748A	FAM5C_uc010pot.1_Silent_p.A646A	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	748						extracellular region		p.Q747P(1)|p.A748V(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					TGGCATTAAACGCCTGCAGAG	0.423													T	190067205	C	T	190067205	2	4	118	1	0	0	0	0	0	0	0	1	5644	523	19	1		1	FAM5C	1	190067205	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	31425271	190067205	59183416	6	7878											
OBSCN	84033	broad.mit.edu	37	chr1	228466482	228466482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtgtcccgggccagcGcccaggtgcggtggttcaag	5	7	17	12	3	2	0	2	0	0	0	3	0	3	0	3	5	2	1	3	5	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:228466482G>A	uc009xez.1	+	25	6996	c.6952G>A	c.(6952-6954)Gcc>Acc	p.A2318T	OBSCN_uc001hsn.3_Missense_Mutation_p.A2318T|OBSCN_uc001hsp.1_Missense_Mutation_p.A17T|OBSCN_uc001hsq.1_5'Flank	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2318	Ig-like 23.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCGGGCCAGCGCCCAGGTGCG	0.637													A	228466482	G	A	228466482	3	1	118	1	0	0	0	0	1	0	0	0	10888	1087	38	1	7050	1	OBSCN	1	228466482	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	38399277	228466482	20784139	7	7879											
OR2M4	26245	broad.mit.edu	37	chr1	248403138	248403138	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgttcagggcactacagaAggtactgaagaaaagaaagt	17	7	12	5	0	1	4	1	1	0	3	1	4	1	4	0	2	2	3	0	2	7	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr1:248403138A>T	uc010pzh.2	+	0	908	c.908A>T	c.(907-909)aAg>aTg	p.K303M		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GCACTACAGAAGGTACTGAAG	0.398													T	248403138	A	T	248403138	3	4	118	1	0	0	0	0	1	0	0	0	11088	72	3	5	910	5	OR2M4	1	248403138	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	19936656	248403138	847483	8	7880											
MYT1L	23040	broad.mit.edu	37	chr2	1926184	1926184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcctcccagcttccatggCcatcttctccctcatggcct	4	12	5	20	0	3	0	1	0	2	0	7	0	6	0	7	2	1	1	7	2	0	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:1926184C>T	uc002qxe.3	-	9	2184	c.1357G>A	c.(1357-1359)Gcc>Acc	p.A453T	MYT1L_uc002qxd.3_Missense_Mutation_p.A453T|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	453					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GCTTCCATGGCCATCTTCTCC	0.537													T	1926184	C	T	1926184	3	4	118	1	0	0	0	0	1	0	0	0	10183	739	26	2	2261	2	MYT1L	2	1926184	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		1926184	241273189	9	7881											
FAM98A	25940	broad.mit.edu	37	chr2	33810356	33810356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacctcctcgtcctccGtatgaggaatgttcatagcc	8	12	8	13	2	2	2	2	2	0	0	6	3	5	3	5	1	1	2	5	1	3	3	rs34080556		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:33810356G>A	uc002rpa.1	-	7	1118	c.1044C>T	c.(1042-1044)taC>taT	p.Y348Y	FAM98A_uc010yne.1_Silent_p.Y153Y|FAM98A_uc010ynd.1_Silent_p.Y179Y|FAM98A_uc002roz.1_Silent_p.Y186Y	NM_015475	NP_056290	Q8NCA5	FA98A_HUMAN	Homo sapiens family with sequence similarity 98, member A (FAM98A), mRNA.	349	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					CTCGTCCTCCGTATGAGGAAT	0.597													A	33810356	G	A	33810356	2	1	118	1	0	0	0	0	0	0	0	1	5705	1140	40	1		1	FAM98A	2	33810356	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	31884172	33810356	209389017	10	7882											
SNRNP200	23020	broad.mit.edu	37	chr2	96957584	96957584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttctaggcacatgtcccGgatggccctggctgtctttc	4	14	10	13	1	2	0	0	0	2	0	4	1	3	1	2	4	0	2	2	4	1	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:96957584G>A	uc002svu.3	-	16	2347	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W		NM_014014	NP_054733	O75643	U520_HUMAN	Homo sapiens small nuclear ribonucleoprotein 200kDa (U5) (SNRNP200), mRNA.	739	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R739W(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACATGTCCCGGATGGCCCTG	0.557													A	96957584	G	A	96957584	3	1	118	1	0	0	0	0	1	0	0	0	14946	1115	39	1	4311	1	SNRNP200	2	96957584	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	63147228	96957584	146241789	11	7883											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460248	107460248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctcatgtgcggcgccCatgatggcccgctgcttccc	4	8	14	15	3	1	1	1	1	0	0	2	2	2	1	3	3	2	3	3	3	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:107460248C>T	uc002tdq.3	-	1	305	c.186G>A	c.(184-186)atG>atA	p.M62I	ST6GAL2_uc002tdr.3_Missense_Mutation_p.M62I|ST6GAL2_uc002tds.3_Missense_Mutation_p.M62I	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	62					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTGCGGCGCCCATGATGGCCC	0.711													T	107460248	C	T	107460248	3	4	118	1	0	0	0	0	1	0	0	0	15318	594	21	2	1510	2	ST6GAL2	2	107460248	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	10502664	107460248	135739125	12	7884											
TTN	7273	broad.mit.edu	37	chr2	179454762	179454762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctgtcaaggacgttaaCgatggctgaaccttgggcat	10	10	13	8	2	2	1	1	1	1	0	2	3	2	2	1	4	2	3	1	4	3	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179454762C>T	uc021vsy.1	-	252	54211	c.53986G>A	c.(53986-53988)Gtt>Att	p.V17996I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V11691I|TTN_uc021vta.1_Missense_Mutation_p.V11624I|TTN_uc021vtb.1_Missense_Mutation_p.V11499I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18923	Fibronectin type-III 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGACGTTAACGATGGCTGAA	0.428													T	179454762	C	T	179454762	3	4	118	1	0	0	0	0	1	0	0	0	16837	536	19	1	46525	1	TTN	2	179454762	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	71994514	179454762	63744611	13	7885											
TTN	7273	broad.mit.edu	37	chr2	179584862	179584862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtattttcactctctctgAtgacttcacctctatctttc	6	19	4	12	0	6	2	2	2	4	0	8	2	6	2	1	1	0	1	1	1	2	6			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:179584862A>G	uc021vsy.1	-	77	20000	c.19775T>C	c.(19774-19776)aTc>aCc	p.I6592T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I3253T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7519	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTCTCTGATGACTTCACC	0.448													G	179584862	A	G	179584862	3	3	118	1	0	0	0	0	1	0	0	0	16837	333	12	3	81150	3	TTN	2	179584862	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	130100	179584862	63614511	14	7886											
ZDBF2	57683	broad.mit.edu	37	chr2	207173138	207173138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgaaccccttcagtccGtaactaataaaattccaggg	13	10	6	12	1	2	1	2	1	0	0	4	1	4	1	4	1	2	1	4	1	5	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:207173138G>A	uc002vbp.2	+	4	4136	c.3886G>A	c.(3886-3888)Gta>Ata	p.V1296I		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1296							nucleic acid binding|zinc ion binding	p.V1296I(3)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CCTTCAGTCCGTAACTAATAA	0.383													A	207173138	G	A	207173138	3	1	118	1	0	0	0	0	1	0	0	0	17700	1145	40	1	3896	1	ZDBF2	2	207173138	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	27588276	207173138	36026235	15	7887											
SPEG	10290	broad.mit.edu	37	chr2	220346370	220346370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattcacaggagacctaccGcagaagagaccctagaacat	15	6	8	12	1	2	4	2	0	0	4	2	6	2	4	3	1	2	1	3	1	4	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:220346370G>A	uc010fwg.3	+	27	5533	c.5533G>A	c.(5533-5535)Gca>Aca	p.A1845T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1845	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GAGACCTACCGCAGAAGAGAC	0.458													A	220346370	G	A	220346370	3	1	118	1	0	0	0	0	1	0	0	0	15132	1087	38	1	5655	1	SPEG	2	220346370	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	13173232	220346370	22853003	16	7888											
DGKD	8527	broad.mit.edu	37	chr2	234360642	234360642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtctggttccttacccGgtggctcagtcatcagtcgc	6	12	11	12	2	4	0	3	0	1	0	6	1	5	0	2	3	1	2	2	3	2	2	rs145038453	byFrequency	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:234360642G>A	uc002vui.1	+	17	2212	c.2200G>A	c.(2200-2202)Ggt>Agt	p.G734S	DGKD_uc002vuj.1_Missense_Mutation_p.G690S|DGKD_uc010fyh.1_Missense_Mutation_p.G601S|DGKD_uc010fyi.1_Non-coding_Transcript	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	734					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity	p.G734fs*12(1)|p.P733S(1)		central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	TTCCTTACCCGGTGGCTCAGT	0.493													A	234360642	G	A	234360642	3	1	118	1	0	0	0	0	1	0	0	0	4506	1116	39	1	2294	1	DGKD	2	234360642	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	14014272	234360642	8838731	17	7889											
GPR35	2859	broad.mit.edu	37	chr2	241569721	241569721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaccgctatgtggccGtgcggcacccgctgcgtgcc	3	7	15	16	6	0	0	0	0	0	0	0	1	0	1	5	3	3	3	5	3	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:241569721G>A	uc010fzi.2	+	5	1317	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	GPR35_uc010fzh.2_Missense_Mutation_p.V149M|GPR35_uc021vze.1_Missense_Mutation_p.V118M|GPR35_uc002vzs.2_Missense_Mutation_p.V118M	NM_001195381	NP_001182310	Q9HC97	GPR35_HUMAN	Homo sapiens G protein-coupled receptor 35 (GPR35), transcript variant 2, mRNA.	118						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		CTATGTGGCCGTGCGGCACCC	0.701													A	241569721	G	A	241569721	3	1	118	1	0	0	0	0	1	0	0	0	6744	1145	40	1	354	1	GPR35	2	241569721	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	7209079	241569721	1629652	18	7890											
DTYMK	1841	broad.mit.edu	37	chr2	242617899	242617899	+	Frame_Shift_Del	DEL	G	G	-																															agtcgtgtctttcatgagctGgtggaaacaccggagcgccc																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr2:242617899delG	uc002wbz.2	-	3	681	c.496delC	c.(496-498)cagfs	p.Q166fs	DTYMK_uc010zpa.2_Frame_Shift_Del_p.Q142fs|DTYMK_uc002wca.2_Non-coding_Transcript|DTYMK_uc010zpb.2_Non-coding_Transcript|DTYMK_uc002wcb.1_5'Flank	NM_012145	NP_036277	P23919	KTHY_HUMAN	Homo sapiens deoxythymidylate kinase (thymidylate kinase) (DTYMK), transcript variant 1, mRNA.	166					cell cycle|cell proliferation|nucleobase, nucleoside and nucleotide interconversion	cytosol	ATP binding|nucleoside phosphate kinase activity|thymidylate kinase activity			NS(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.6e-33)|all cancers(36;3.57e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.23e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		TTCATGAGCTGGTGGAAACAC	0.582													-	242617899	G	-	242617899	7	5	118	1	0	1	0	1	0	0	0	0	4837	1357	47	0	150	0	DTYMK	2	242617899	Frame_Shift_Del	DEL	G	TCGA-12-1597-01B-01D-1495-08	1048178	242617899	581474	19	7891											
MST1R	4486	broad.mit.edu	37	chr3	49940449	49940449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccagtgaggatgccacGtagaaataggaggcctggcc	10	6	15	10	2	0	2	0	1	0	1	1	4	1	4	4	4	1	1	4	4	3	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:49940449G>A	uc003cxy.4	-	0	858	c.594C>T	c.(592-594)taC>taT	p.Y198Y	MST1R_uc011bdc.2_Silent_p.Y198Y|MST1R_uc011bdd.2_Silent_p.Y198Y|MST1R_uc011bde.1_Silent_p.Y198Y|MST1R_uc011bdf.1_Silent_p.Y198Y|MST1R_uc011bdg.2_Silent_p.Y198Y	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	198	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		AGGATGCCACGTAGAAATAGG	0.632													A	49940449	G	A	49940449	2	1	118	1	0	0	0	0	0	0	0	1	9967	1140	40	1		1	MST1R	3	49940449	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08		49940449	148081981	20	7892											
FLNB	2317	broad.mit.edu	37	chr3	58145402	58145402	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagtgccacgtgtctgAgctggagccaggtgagcagg	8	6	19	8	1	1	2	0	2	1	0	1	5	1	5	2	5	4	2	2	5	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:58145402A>C	uc003djj.2	+	41	7175	c.7010A>C	c.(7009-7011)gAg>gCg	p.E2337A	FLNB_uc010hne.2_Missense_Mutation_p.E2368A|FLNB_uc003djk.2_Missense_Mutation_p.E2326A|FLNB_uc010hnf.2_Missense_Mutation_p.E2313A|FLNB_uc003djl.2_Missense_Mutation_p.E2157A|FLNB_uc003djm.2_Missense_Mutation_p.E2144A	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2337	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CACGTGTCTGAGCTGGAGCCA	0.572													C	58145402	A	C	58145402	3	2	118	1	0	0	0	0	1	0	0	0	5983	304	11	5	7273	5	FLNB	3	58145402	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	8204953	58145402	139877028	21	7893											
OR5H1	26341	broad.mit.edu	37	chr3	97852262	97852262	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggaaagccttttccaccTgtggagcccatctcttctct	8	13	7	13	0	2	0	0	0	2	0	5	2	3	2	4	2	2	0	4	2	2	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr3:97852262T>A	uc011bgt.2	+	0	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CTTTTCCACCTGTGGAGCCCA	0.408													A	97852262	T	A	97852262	3	1	118	1	0	0	0	0	1	0	0	0	11235	1580	55	5	723	5	OR5H1	3	97852262	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	39706860	97852262	100170168	22	7894											
CPZ	8532	broad.mit.edu	37	chr4	8605776	8605776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcttcagccaccactcctaCgcccagatggtgcgtgtgct	6	9	10	16	3	1	1	1	0	0	1	2	1	2	1	4	1	4	2	4	1	1	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:8605776C>T	uc003glm.3	+	3	744	c.570C>T	c.(568-570)taC>taT	p.Y190Y	CPZ_uc003gll.3_Non-coding_Transcript|CPZ_uc003glo.3_Silent_p.Y179Y|CPZ_uc003gln.3_Silent_p.Y53Y	NM_001014447	NP_001014448	Q66K79	CBPZ_HUMAN	Homo sapiens carboxypeptidase Z (CPZ), transcript variant 1, mRNA.	190					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						ACCACTCCTACGCCCAGATGG	0.706													T	8605776	C	T	8605776	2	4	118	1	0	0	0	0	0	0	0	1	3870	547	19	1		1	CPZ	4	8605776	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		8605776	182548500	23	7895											
WDR1	9948	broad.mit.edu	37	chr4	10100717	10100718	+	In_Frame_Ins	INS	-	-	TGCTCC																															ggtactcatacttcaacaggINStgctccttctgcgtggtatc																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr4:10100717_10100718insTGCTCC	uc021xlv.1	-	3	558_559	c.275_276insGGAGCA	c.(274-276)cac>caGGAGCAc	p.91_92insQE	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	91					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		ACTTCAACAGGTGCTCCTTCTG	0.589													TGCTCC	10100718	-	TGCTCC	10100717	7	5	118	1	0	1	1	0	0	0	0	0	17374	1252	44	0	1592	0	WDR1	4	10100717	In_Frame_Ins	INS	-	TCGA-12-1597-01B-01D-1495-08	1494941	10100717	181053559	24	7896											
HCN1	348980	broad.mit.edu	37	chr5	45262443	45262443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgtggctgcggggaCggctgctgtggctgagtctg	2	11	20	8	2	2	1	0	1	2	0	2	2	2	2	0	6	2	4	0	6	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:45262443C>T	uc003jok.3	-	7	2278	c.2253G>A	c.(2251-2253)ccG>ccA	p.P751P		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	751	Gln-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTGCGGGGACGgctgctgtg	0.637													T	45262443	C	T	45262443	2	4	118	1	0	0	0	0	0	0	0	1	7051	523	19	1		1	HCN1	5	45262443	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		45262443	135652817	25	7897											
KCNN2	3781	broad.mit.edu	37	chr5	113740368	113740368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctatctgattgccagagtCatgcttttacatagcaaact	11	14	6	10	0	3	2	1	1	2	1	3	2	3	2	1	0	5	2	1	0	4	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:113740368C>T	uc003kqo.3	+	2	1273	c.816C>T	c.(814-816)gtC>gtT	p.V272V		NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 (KCNN2), transcript variant 1, mRNA.	272						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	p.V272A(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		TTGCCAGAGTCATGCTTTTAC	0.393													T	113740368	C	T	113740368	2	4	118	1	0	0	0	0	0	0	0	1	8137	813	29	2		2	KCNN2	5	113740368	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	68477925	113740368	67174892	26	7898											
MAT2B	27430	broad.mit.edu	37	chr5	162932707	162932707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgggcatggtggggcgggaGaaagagctctctatacactt	9	8	16	8	2	1	2	0	0	1	2	2	3	1	2	0	5	2	2	0	5	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr5:162932707G>A	uc003lzk.3	+	0	123	c.15G>A	c.(13-15)gaG>gaA	p.E5E	MAT2B_uc003lzj.3_Intron|MAT2B_uc003lzl.1_Silent_p.E5E	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	5					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.M4I(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	TGGGGCGGGAGAAAGAGCTCT	0.706											OREG0017003	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	162932707	G	A	162932707	2	1	118	1	0	0	0	0	0	0	0	1	9406	933	33	2		2	MAT2B	5	162932707	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	49192339	162932707	17982553	27	7899											
SLC17A1	6568	broad.mit.edu	37	chr6	25819769	25819769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagaagtaagtcggcctcGttccaggggaggagcccatt	10	8	13	10	2	0	1	0	0	0	1	3	3	1	3	3	4	1	2	3	4	3	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:25819769G>A	uc003nfh.4	-	4	615	c.499C>T	c.(499-501)Cga>Tga	p.R167*	SLC17A1_uc011djy.2_Non-coding_Transcript|SLC17A1_uc010jqb.1_Nonsense_Mutation_p.R167*|SLC17A1_uc010jqc.1_Nonsense_Mutation_p.R165*	NM_005074	NP_005065	Q14916	NPT1_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 1 (SLC17A1), mRNA.	167					sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	p.R167L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						AGTCGGCCTCGTTCCAGGGGA	0.398													A	25819769	G	A	25819769	4	1	118	1	0	0	0	0	0	1	0	0	14510	1153	40	1	936	1	SLC17A1	6	25819769	Nonsense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		25819769	145295298	28	7900											
PGBD1	84547	broad.mit.edu	37	chr6	28269724	28269724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggcattatcagtctgtGctccaatgctgtgggcatag	8	12	13	8	0	2	0	1	0	1	0	3	1	3	1	1	3	2	4	1	3	3	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:28269724G>A	uc003nky.3	+	6	2513	c.2093G>A	c.(2092-2094)tGc>tAc	p.C698Y	PGBD1_uc003nkz.3_Missense_Mutation_p.C698Y	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	698					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						ATCAGTCTGTGCTCCAATGCT	0.388													A	28269724	G	A	28269724	3	1	118	1	0	0	0	0	1	0	0	0	11857	1319	46	2	2115	2	PGBD1	6	28269724	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	2449955	28269724	142845343	29	7901											
TREML2	79865	broad.mit.edu	37	chr6	41166020	41166020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctttcacccagactcggGcaaagccaggctcacacttc	9	7	8	17	1	2	1	2	0	0	1	4	1	2	1	3	2	1	2	3	2	1	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr6:41166020G>A	uc010jxm.1	-	1	382	c.203C>T	c.(202-204)gCc>gTc	p.A68V		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	68	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGACTCGGGCAAAGCCAGG	0.572													A	41166020	G	A	41166020	3	1	118	1	0	0	0	0	1	0	0	0	16574	1203	42	2	778	2	TREML2	6	41166020	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	12896296	41166020	129949047	30	7902											
AKAP9	10142	broad.mit.edu	37	chr7	91674419	91674419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaattggtcgccatgtcCttgggattctagatagatct	11	13	9	8	1	2	2	0	0	2	2	4	3	3	3	2	2	1	0	2	2	4	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:91674419C>T	uc003ulg.3	+	20	5485	c.5260C>T	c.(5260-5262)Ctt>Ttt	p.L1754F	AKAP9_uc003ulf.3_Missense_Mutation_p.L1754F|AKAP9_uc003uli.3_Missense_Mutation_p.L1379F	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1766					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCGCCATGTCCTTGGGATTCT	0.423			T	BRAF	papillary thyroid								T	91674419	C	T	91674419	3	4	118	1	0	0	0	0	1	0	0	0	459	681	24	2	5342	2	AKAP9	7	91674419	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		91674419	67464244	31	7903											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519263	113519263	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttggaaaagataatcAttcctcaaaacatttccagt	16	12	4	9	0	3	1	3	0	0	1	5	2	5	2	2	1	2	0	2	1	6	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:113519263A>G	uc010ljy.1	-	3	1915	c.1884T>C	c.(1882-1884)aaT>aaC	p.N628N		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	628					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAAGATAATCATTCCTCAAAA	0.388													G	113519263	A	G	113519263	2	3	118	1	0	0	0	0	0	0	0	1	12453	214	8	3		3	PPP1R3A	7	113519263	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	21844844	113519263	45619400	32	7904											
TRPV6	55503	broad.mit.edu	37	chr7	142573411	142573411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagctccttcaccggcGtctggtccaggatctggcga	6	9	11	15	3	4	0	2	0	2	0	6	2	6	1	4	4	1	1	4	4	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:142573411G>A	uc003wbx.2	-	7	1161	c.932C>T	c.(931-933)aCg>aTg	p.T311M	TRPV6_uc003wbw.1_Missense_Mutation_p.T97M|TRPV6_uc010lou.1_Missense_Mutation_p.T182M	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	311					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding	p.Q310E(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTTCACCGGCGTCTGGTCCAG	0.592													A	142573411	G	A	142573411	3	1	118	1	0	0	0	0	1	0	0	0	16701	1145	40	1	1277	1	TRPV6	7	142573411	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	29054148	142573411	16565252	33	7905											
OR2F1	26211	broad.mit.edu	37	chr7	143657660	143657660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccaatgaggtcaccatCatggtgtctagcattgttct	8	14	8	11	0	4	1	2	1	2	0	6	1	6	1	3	2	1	2	3	2	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:143657660C>T	uc003wds.1	+	0	641	c.597C>T	c.(595-597)atC>atT	p.I199I		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					AGGTCACCATCATGGTGTCTA	0.478													T	143657660	C	T	143657660	2	4	118	1	0	0	0	0	0	0	0	1	11072	816	29	2		2	OR2F1	7	143657660	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	1084249	143657660	15481003	34	7906											
CNTNAP2	26047	broad.mit.edu	37	chr7	146741054	146741054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacgaattacagcatcCgattattgcccgctatgtgc	9	10	9	13	4	0	0	0	0	0	0	1	2	1	0	3	1	4	3	3	1	4	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr7:146741054C>T	uc003weu.2	+	3	974	c.458C>T	c.(457-459)cCg>cTg	p.P153L		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	153	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTACAGCATCCGATTATTGCC	0.423										HNSCC(39;0.1)			T	146741054	C	T	146741054	3	4	118	1	0	0	0	0	1	0	0	0	3678	652	23	1	472	1	CNTNAP2	7	146741054	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	3083394	146741054	12397609	35	7907											
DLC1	10395	broad.mit.edu	37	chr8	12946050	12946050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatactgttttggacatacTggtaaatttcagtttggctg	9	16	9	7	0	1	0	1	0	0	0	1	1	1	1	1	3	2	4	1	3	4	7			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:12946050T>C	uc003wwm.2	-	15	4682	c.4238A>G	c.(4237-4239)cAg>cGg	p.Q1413R	DLC1_uc003wwk.1_Missense_Mutation_p.Q976R|DLC1_uc003wwl.1_Missense_Mutation_p.Q1010R|DLC1_uc011kxx.1_Missense_Mutation_p.Q902R	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	1413	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.Y1412C(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTGGACATACTGGTAAATTTC	0.423													C	12946050	T	C	12946050	3	2	118	1	0	0	0	0	1	0	0	0	4589	1580	55	3	360	3	DLC1	8	12946050	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08		12946050	133417972	36	7908											
ADAM2	2515	broad.mit.edu	37	chr8	39607192	39607192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactgctacttacacctctAtcattgcatttgtcagtagt	9	16	6	10	0	3	0	2	0	1	0	3	0	3	0	1	0	5	4	1	0	5	7			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:39607192A>G	uc003xnj.3	-	16	1944	c.1869T>C	c.(1867-1869)gaT>gaC	p.D623D	ADAM2_uc003xnk.3_Silent_p.D604D|ADAM2_uc011lck.2_Silent_p.D560D|ADAM2_uc003xnl.3_Silent_p.D467D	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	623	EGF-like.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTACACCTCTATCATTGCATT	0.368													G	39607192	A	G	39607192	2	3	118	1	0	0	0	0	0	0	0	1	241	446	16	3		3	ADAM2	8	39607192	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	26661142	39607192	106756830	37	7909											
TTPA	7274	broad.mit.edu	37	chr8	63985639	63985639	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctccacttataatagttTtttagtaactgaaaaataaa	16	15	4	6	0	1	1	0	1	1	0	2	1	1	1	1	0	1	3	1	0	9	8			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:63985639T>C	uc003xux.2	-	1	245	c.213A>G	c.(211-213)aaA>aaG	p.K71K		NM_000370	NP_000361	P49638	TTPA_HUMAN	Homo sapiens tocopherol (alpha) transfer protein (TTPA), mRNA.	71					lipid metabolic process		transporter activity|vitamin E binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)	15	Breast(64;0.0716)	all_cancers(86;0.145)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.123)			Vitamin E(DB00163)	TATAATAGTTTTTTAGTAACT	0.338													C	63985639	T	C	63985639	2	2	118	1	0	0	0	0	0	0	0	1	16838	1838	64	3		3	TTPA	8	63985639	Silent	SNP	T	TCGA-12-1597-01B-01D-1495-08	24378447	63985639	82378383	38	7910											
RIMS2	9699	broad.mit.edu	37	chr8	105263256	105263256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttctttcccaagcaccGtatgtaaaagtgtatctatt	10	17	6	8	1	2	0	0	0	2	0	3	0	3	0	2	0	1	5	2	0	6	8	rs143698299	by1000genomes	TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:105263256G>A	uc003yls.3	+	26	3991	c.3750G>A	c.(3748-3750)ccG>ccA	p.P1250P	RIMS2_uc003ylp.3_Silent_p.P1232P|RIMS2_uc003ylw.2_Silent_p.P1239P|RIMS2_uc003ylq.3_Silent_p.P1046P|RIMS2_uc003ylr.3_Silent_p.P1071P	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1294					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)			A	105263256	G	A	105263256	2	1	118	1	0	0	0	0	0	0	0	1	13459	1132	40	1		1	RIMS2	8	105263256	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	41277617	105263256	41100766	39	7911											
CPSF1	29894	broad.mit.edu	37	chr8	145624415	145624415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatctccaggtccggctcgGggctgttctgaaactgcaca	8	9	11	13	2	2	1	0	1	2	0	5	1	3	1	2	4	2	4	2	4	2	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr8:145624415G>A	uc003zcj.3	-	15	1556	c.1481C>T	c.(1480-1482)cCc>cTc	p.P494L		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	494					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GTCCGGCTCGGGGCTGTTCTG	0.692													A	145624415	G	A	145624415	3	1	118	1	0	0	0	0	1	0	0	0	3855	1232	43	2	2942	2	CPSF1	8	145624415	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	40361159	145624415	739607	40	7912											
PGM5	5239	broad.mit.edu	37	chr9	70999452	70999452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaaaacaaattcaaacCattcagaggtaacagagatt	19	8	6	8	0	2	3	2	0	0	3	2	4	2	3	2	1	3	1	2	1	6	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:70999452C>A	uc004agr.3	+	2	792	c.563C>A	c.(562-564)cCa>cAa	p.P188Q		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	188					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						AAATTCAAACCATTCAGAGGT	0.378													A	70999452	C	A	70999452	3	1	118	1	0	0	0	0	1	0	0	0	11878	594	21	4	573	4	PGM5	9	70999452	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		70999452	70213979	41	7913											
WNK2	65268	broad.mit.edu	37	chr9	96079849	96079849	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccacgtctgcccccagcGcccggccctctgtccaccac	5	6	8	22	3	2	0	0	0	2	0	3	0	3	0	7	1	3	0	7	1	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr9:96079849G>A	uc004ati.1	+	28	6675	c.6675G>A	c.(6673-6675)gcG>gcA	p.A2225A	WNK2_uc011lud.1_Silent_p.A2188A|WNK2_uc004atj.3_Silent_p.A2188A|WNK2_uc004atk.3_Silent_p.A1713A	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	2225					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGCCCCCAGCGCCCGGCCCTC	0.647													A	96079849	G	A	96079849	2	1	118	1	0	0	0	0	0	0	0	1	17480	1074	38	1		1	WNK2	9	96079849	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	25080397	96079849	45133582	42	7914											
PTEN	5728	broad.mit.edu	37	chr10	89717704	89717704	+	Frame_Shift_Del	DEL	C	C	-																															aagttcatgtactttgagttCcctcagccgttacctgtgtg																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr10:89717704delC	uc001kfb.3	+	6	1761	c.729delC	c.(727-729)ttcfs	p.F243fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	243	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.E242fs*15(10)|p.R55fs*1(5)|p.F243fs*9(2)|p.N212fs*1(2)|p.E242*(2)|p.Y27fs*1(2)|p.E242fs*1(2)|p.G165_*404del(1)|p.?(1)|p.F243S(1)|p.R234fs*9(1)|p.E242K(1)|p.G165_K342del(1)|p.F243fs*13(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTTGAGTTCCCTCAGCCGT	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89717704	C	-	89717704	7	5	118	1	0	1	0	1	0	0	0	0	12823	854	30	0	755	0	PTEN	10	89717704	Frame_Shift_Del	DEL	C	TCGA-12-1597-01B-01D-1495-08		89717704	45817043	43	7915											
MRGPRE	116534	broad.mit.edu	37	chr11	3249597	3249597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagggcccaggtgagggCgcacacacaggtggtcaggt	9	4	18	10	1	1	2	1	1	0	1	1	2	1	2	1	6	0	2	1	6	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:3249597C>T	uc021qcj.1	-	0	430	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	MRGPRE_uc001lxq.4_Missense_Mutation_p.A144T	NM_001039165	NP_001034254	Q86SM8	MRGRE_HUMAN	Homo sapiens MAS-related GPR, member E (MRGPRE), mRNA.	144						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGTGAGGGCGCACACACAG	0.711													T	3249597	C	T	3249597	3	4	118	1	0	0	0	0	1	0	0	0	9840	768	27	1	509	1	MRGPRE	11	3249597	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		3249597	131756919	44	7916											
OR8K3	219473	broad.mit.edu	37	chr11	56086025	56086025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaactgtgggacccaaaatGttagtaaattttgttgtgga	13	13	10	5	0	0	0	0	0	0	0	0	2	0	2	1	2	1	3	1	2	6	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:56086025G>A	uc010rjf.2	+	0	243	c.243G>A	c.(241-243)atG>atA	p.M81I		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GACCCAAAATGTTAGTAAATT	0.353													A	56086025	G	A	56086025	3	1	118	1	0	0	0	0	1	0	0	0	11320	1377	48	2	245	2	OR8K3	11	56086025	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	52836428	56086025	78920491	45	7917											
MAP4K2	5871	broad.mit.edu	37	chr11	64557670	64557670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcactcacccacagtctcGatggggaaatcaaaggtcag	12	7	10	12	1	5	0	4	0	1	0	6	2	5	1	1	3	0	1	1	3	2	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:64557670G>A	uc001obh.3	-	28	2330	c.2238C>T	c.(2236-2238)atC>atT	p.I746I	MAP4K2_uc001obi.3_Silent_p.I738I	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	746	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						CCACAGTCTCGATGGGGAAAT	0.617													A	64557670	G	A	64557670	2	1	118	1	0	0	0	0	0	0	0	1	9335	1048	37	1		1	MAP4K2	11	64557670	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	8471645	64557670	70448846	46	7918											
FAM55D	54827	broad.mit.edu	37	chr11	114453106	114453106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggcatgtgttgaggcCtcacacagtagaagccttct	10	9	11	11	0	2	2	1	1	1	1	2	2	2	2	2	2	1	3	2	2	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr11:114453106C>A	uc001ppc.3	-	2	915	c.734G>T	c.(733-735)aGg>aTg	p.R245M	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	245						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		GTGTTGAGGCCTCACACAGTA	0.438													A	114453106	C	A	114453106	3	1	118	1	0	0	0	0	1	0	0	0	5637	681	24	4	916	4	FAM55D	11	114453106	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	49895436	114453106	20553410	47	7919											
KRT4	3851	broad.mit.edu	37	chr12	53207484	53207484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatctccacgtggagggggGtgagcaagctctggttgatg	8	9	16	8	1	2	2	0	2	2	0	3	3	2	3	1	5	2	3	1	5	2	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:53207484G>T	uc001saz.3	-	0	581	c.581C>A	c.(580-582)aCc>aAc	p.T194N		NM_002272	NP_002263	B4DRS2	B4DRS2_HUMAN	Homo sapiens keratin 4 (KRT4), mRNA.	120						keratin filament	structural molecule activity			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|prostate(2)|skin(2)	29						GTGGAGGGGGGTGAGCAAGCT	0.587													T	53207484	G	T	53207484	3	4	118	1	0	0	0	0	1	0	0	0	8535	1261	44	4	1239	4	KRT4	12	53207484	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		53207484	80644411	48	7920											
OR6C1	390321	broad.mit.edu	37	chr12	55714593	55714593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctccatattagaaatttcGttcacaaccgtcagtatacc	12	14	4	11	2	3	1	2	0	1	1	5	1	3	1	3	0	2	2	3	0	6	7			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:55714593G>A	uc010spi.2	+	0	210	c.210G>A	c.(208-210)tcG>tcA	p.S70S		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TAGAAATTTCGTTCACAACCG	0.383													A	55714593	G	A	55714593	2	1	118	1	0	0	0	0	0	0	0	1	11266	1132	40	1		1	OR6C1	12	55714593	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	2507109	55714593	78137302	49	7921											
PAH	5053	broad.mit.edu	37	chr12	103246614	103246614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcgggggtatacatgggcTtggatccatgtctgatgtac	7	13	14	7	1	1	1	0	1	1	0	3	2	2	2	1	4	2	4	1	4	3	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr12:103246614T>A	uc001tjq.1	-	6	1294	c.821A>T	c.(820-822)aAg>aTg	p.K274M		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	274			K -> E.		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ATACATGGGCTTGGATCCATG	0.562													A	103246614	T	A	103246614	3	1	118	1	0	0	0	0	1	0	0	0	11470	1609	56	5	565	5	PAH	12	103246614	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	47532021	103246614	30605281	50	7922											
EXOSC8	11340	broad.mit.edu	37	chr13	37580266	37580266	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagttcacagataattcAgaaagaggacttatgcattt	16	12	7	6	0	3	3	3	0	0	3	3	4	3	4	0	1	1	2	0	1	4	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr13:37580266A>C	uc001uwa.3	+	6	624	c.359A>C	c.(358-360)cAg>cCg	p.Q120P	EXOSC8_uc001uvz.2_Non-coding_Transcript	NM_181503	NP_852480	Q96B26	EXOS8_HUMAN	Homo sapiens exosome component 8 (EXOSC8), mRNA.	120					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	AU-rich element binding|identical protein binding			biliary_tract(1)|breast(1)|kidney(2)|pancreas(1)|prostate(1)|skin(1)	7		Lung NSC(96;6.57e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.67e-07)|Epithelial(112;1.31e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00699)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0411)		CAGATAATTCAGAAAGAGGAC	0.318													C	37580266	A	C	37580266	3	2	118	1	0	0	0	0	1	0	0	0	5362	188	7	5	385	5	EXOSC8	13	37580266	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08		37580266	77589612	51	7923											
FANCM	57697	broad.mit.edu	37	chr14	45605251	45605251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaatgagcggacggcaaaGaacgctttttcagacgtggg	11	8	13	9	4	1	3	1	1	0	2	1	4	1	4	1	3	2	2	1	3	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:45605251G>A	uc001wwd.4	+	0	116	c.17G>A	c.(16-18)aGa>aAa	p.R6K	FANCM_uc001wwc.2_Missense_Mutation_p.R6K|FANCM_uc010anf.3_Missense_Mutation_p.R6K|FKBP3_uc010tqf.2_5'Flank	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	6					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						GGACGGCAAAGAACGCTTTTT	0.582								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45605251	G	A	45605251	3	1	118	1	0	0	0	0	1	0	0	0	5720	942	33	2	19	2	FANCM	14	45605251	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08		45605251	61744289	52	7924											
NAA30	122830	broad.mit.edu	37	chr14	57858239	57858239	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcaggtgcggctgctgtcTtcgtccctgaccgccgactg	4	9	14	14	4	1	1	0	1	1	0	3	3	2	1	3	2	3	3	3	2	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:57858239T>G	uc001xcx.4	+	1	718	c.564T>G	c.(562-564)tcT>tcG	p.S188S	NAA30_uc010trk.2_Intron|NAA30_uc010aow.3_Intron	NM_001011713	NP_001011713	Q147X3	NAA30_HUMAN	Homo sapiens N(alpha)-acetyltransferase 30, NatC catalytic subunit (NAA30), mRNA.	188						cytoplasm	peptide alpha-N-acetyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(2)|skin(2)	13						GGCTGCTGTCTTCGTCCCTGA	0.657													G	57858239	T	G	57858239	2	3	118	1	0	0	0	0	0	0	0	1	10198	1596	56	5		5	NAA30	14	57858239	Silent	SNP	T	TCGA-12-1597-01B-01D-1495-08	12252988	57858239	49491301	53	7925											
TSHR	7253	broad.mit.edu	37	chr14	81610003	81610003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggaccggaagatccGcctcaggcacgcatgtgcca	8	5	13	15	4	1	1	1	0	0	1	2	3	2	3	5	3	1	2	5	3	1	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:81610003G>T	uc001xvd.1	+	9	1757	c.1601G>T	c.(1600-1602)cGc>cTc	p.R534L		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	534					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGGAAGATCCGCCTCAGGCAC	0.562			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						T	81610003	G	T	81610003	3	4	118	1	0	0	0	0	1	0	0	0	16723	1087	38	4	1776	4	TSHR	14	81610003	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	23751764	81610003	25739537	54	7926											
IFI27	3429	broad.mit.edu	37	chr14	94582172	94582172	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgggcttcactgcggCgggaatcgcctcgtcctcca	5	9	12	15	4	1	0	1	0	0	0	5	1	3	1	4	3	2	1	4	3	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr14:94582172C>G	uc021sba.1	+	3	290	c.167C>G	c.(166-168)gCg>gGg	p.A56G	IFI27_uc001ycn.1_Non-coding_Transcript	NM_001130080	NP_001123552	P40305	IFI27_HUMAN	Homo sapiens interferon, alpha-inducible protein 27 (IFI27), transcript variant 1, mRNA.	56					activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|type I interferon-mediated signaling pathway	integral to membrane|mitochondrion				breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		TTCACTGCGGCGGGAATCGCC	0.642													G	94582172	C	G	94582172	2	3	118	1	0	0	0	0	0	0	0	1	7570	768	27	4		4	IFI27	14	94582172	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	12972169	94582172	12767368	55	7927											
MGA	23269	broad.mit.edu	37	chr15	42032290	42032290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcatccaggaaaccaCgtaccctgttgccttcaaca	10	9	8	14	1	1	0	1	0	0	0	2	1	2	1	4	2	5	4	4	2	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:42032290C>T	uc010ucy.2	+	13	4655	c.4474C>T	c.(4474-4476)Cgt>Tgt	p.R1492C	MGA_uc010ucz.2_Missense_Mutation_p.R1492C|MGA_uc010uda.1_Missense_Mutation_p.R108C	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	1492						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CAGGAAACCACGTACCCTGTT	0.532													T	42032290	C	T	42032290	3	4	118	1	0	0	0	0	1	0	0	0	9615	536	19	1	4524	1	MGA	15	42032290	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		42032290	60499102	56	7928											
LRRK1	79705	broad.mit.edu	37	chr15	101592102	101592102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcctgccccagacaccCggacctccccgtgccgctgc	5	6	8	22	3	1	1	0	0	1	1	3	2	2	2	8	1	3	1	8	1	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr15:101592102C>T	uc002bwr.3	+	23	3945	c.3626C>T	c.(3625-3627)cCg>cTg	p.P1209L	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_5'Flank	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1209					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAGACACCCGGACCTCCCC	0.617													T	101592102	C	T	101592102	3	4	118	1	0	0	0	0	1	0	0	0	9102	652	23	1	3716	1	LRRK1	15	101592102	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	59559812	101592102	939290	57	7929											
SALL1	6299	broad.mit.edu	37	chr16	51171034	51171034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctgctttaactcgtgaCgatctccttgctgtcctcca	6	13	8	14	3	1	1	0	1	1	0	5	3	3	1	3	0	4	3	3	0	1	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:51171034C>G	uc021tif.1	-	2	3995	c.3673G>C	c.(3673-3675)Gtc>Ctc	p.V1225L	SALL1_uc021tid.1_3'UTR|SALL1_uc021tie.1_3'UTR|SALL1_uc010cbv.3_Missense_Mutation_p.V174L	NM_001127892	NP_001121364	Q9NSC2	SALL1_HUMAN	Homo sapiens sal-like 1 (Drosophila) (SALL1), transcript variant 2, mRNA.	1322					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S1225L(1)|p.S1225S(1)		NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TAACTCGTGACGATCTCCTTG	0.592													G	51171034	C	G	51171034	3	3	118	1	0	0	0	0	1	0	0	0	13901	536	19	4	14	4	SALL1	16	51171034	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		51171034	39183719	58	7930											
GNAO1	2775	broad.mit.edu	37	chr16	56374784	56374784	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaagctttttgacagcatCtgcaacaacaaatggttcac	13	11	7	10	0	2	2	1	2	1	0	2	2	2	2	0	1	5	4	0	1	4	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:56374784C>G	uc002eit.4	+	6	1659	c.762C>G	c.(760-762)atC>atG	p.I254M	GNAO1_uc002eiu.4_Intron	NM_138736	NP_620073	P09471	GNAO_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O (GNAO1), transcript variant 2, mRNA.	254					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TTGACAGCATCTGCAACAACA	0.527													G	56374784	C	G	56374784	3	3	118	1	0	0	0	0	1	0	0	0	6564	903	32	4	788	4	GNAO1	16	56374784	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	5203750	56374784	33979969	59	7931											
PMFBP1	83449	broad.mit.edu	37	chr16	72158703	72158703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaggttctcttttaaggcgGccatctcctcctggaactcc	6	12	10	13	1	2	0	0	0	2	0	6	2	4	2	4	5	1	1	4	5	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:72158703G>A	uc002fcc.4	-	16	2739	c.2567C>T	c.(2566-2568)gCc>gTc	p.A856V	PMFBP1_uc002fcd.3_Missense_Mutation_p.A851V|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Missense_Mutation_p.A706V|PMFBP1_uc010cgo.1_Missense_Mutation_p.A147V	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	856								p.E855*(1)		NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTTAAGGCGGCCATCTCCTC	0.572											OREG0023927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72158703	G	A	72158703	3	1	118	1	0	0	0	0	1	0	0	0	12211	1203	42	2	551	2	PMFBP1	16	72158703	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	15783919	72158703	18196050	60	7932											
GAN	8139	broad.mit.edu	37	chr16	81390535	81390535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagccgcagcaaggggAggcgatgctggccaacttca	10	4	14	13	2	1	0	1	0	0	0	1	2	1	1	3	4	5	3	3	4	2	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:81390535A>G	uc002fgo.3	+	3	927	c.779A>G	c.(778-780)gAg>gGg	p.E260G		NM_022041	NP_071324	Q9H2C0	GAN_HUMAN	Homo sapiens gigaxonin (GAN), mRNA.	260					cell death	cytoplasm|neurofilament	protein binding	p.G259G(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CAGCAAGGGGAGGCGATGCTG	0.493													G	81390535	A	G	81390535	3	3	118	1	0	0	0	0	1	0	0	0	6286	304	11	3	793	3	GAN	16	81390535	Missense_Mutation	SNP	A	TCGA-12-1597-01B-01D-1495-08	9231832	81390535	8964218	61	7933											
FBXO31	79791	broad.mit.edu	37	chr16	87367838	87367838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggtcgggcagctggatccGatgcctcaggtcgatctcca	7	8	14	12	3	2	0	1	0	1	0	6	4	3	1	3	4	2	2	3	4	0	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr16:87367838G>C	uc002fjw.3	-	7	1095	c.1051C>G	c.(1051-1053)Cgg>Ggg	p.R351G	FBXO31_uc010vot.2_Missense_Mutation_p.R179G|FBXO31_uc002fjv.3_Missense_Mutation_p.R243G	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	351					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.R351W(1)|p.R179W(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		AGCTGGATCCGATGCCTCAGG	0.657													C	87367838	G	C	87367838	3	2	118	1	0	0	0	0	1	0	0	0	5790	1057	37	4	576	4	FBXO31	16	87367838	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	5977303	87367838	2986915	62	7934											
BCL6B	255877	broad.mit.edu	37	chr17	6929925	6929925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcaaccttgccagtcatCgtacagtgcacacaggtagg	11	7	12	11	1	1	0	1	0	0	0	2	0	1	0	2	3	4	4	2	3	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:6929925C>T	uc010clt.1	+	5	1101	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	BCL6B_uc002geg.2_Missense_Mutation_p.R347C	NM_181844	NP_862827	Q8N143	BCL6B_HUMAN	Homo sapiens B-cell CLL/lymphoma 6, member B (BCL6B), mRNA.	347						nucleus	zinc ion binding			skin(1)	1						TGCCAGTCATCGTACAGTGCA	0.582													T	6929925	C	T	6929925	3	4	118	1	0	0	0	0	1	0	0	0	1382	884	31	1	1057	1	BCL6B	17	6929925	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		6929925	74265285	63	7935											
MAP2K3	5606	broad.mit.edu	37	chr17	21208414	21208414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggctacaatgtcaagtccGacgtctggagcctgggcatc	9	8	13	11	2	2	0	1	0	1	0	4	2	3	1	2	3	2	2	2	3	3	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21208414G>A	uc002gys.3	+	8	1013	c.748G>A	c.(748-750)Gac>Aac	p.D250N	MAP2K3_uc002gyt.3_Missense_Mutation_p.D221N|MAP2K3_uc021tsq.1_Missense_Mutation_p.D221N|MAP2K3_uc021tsr.1_Missense_Mutation_p.D221N	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	250	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		TGTCAAGTCCGACGTCTGGAG	0.647													A	21208414	G	A	21208414	3	1	118	1	0	0	0	0	1	0	0	0	9313	1058	37	1	782	1	MAP2K3	17	21208414	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	14278489	21208414	59986796	64	7936											
UBC	7316	broad.mit.edu	37	chr17	21731067	21731067	+	Frame_Shift_Del	DEL	C	C	-																															cagaggctcatctttgcaggCaagcagctggaagatggccg																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:21731067delC	uc002gyy.3	+	1	494	c.369delC	c.(367-369)ggcfs	p.G123fs				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	275	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding	p.A122V(1)|p.G123A(1)		breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TCTTTGCAGGCAAGCAGCTGG	0.542													-	21731067	C	-	21731067	7	5	118	1	0	1	0	1	0	0	0	0	16944	725	25	0		0	UBC	17	21731067	Frame_Shift_Del	DEL	C	TCGA-12-1597-01B-01D-1495-08	522653	21731067	59464143	65	7937											
LGALS9	3965	broad.mit.edu	37	chr17	25974373	25974373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgagaatgctgtggtccGcaacacccagatcgacaact	12	8	10	11	2	0	3	0	2	0	2	2	5	1	3	2	1	3	2	2	1	3	0	rs149003631		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:25974373G>A	uc002gzp.3	+	9	954	c.836G>A	c.(835-837)cGc>cAc	p.R279H	LGALS9_uc002gzq.3_Missense_Mutation_p.R247H|LGALS9_uc002gzr.3_Missense_Mutation_p.R190H|LGALS9_uc010waa.2_Intron	NM_009587	NP_033665	O00182	LEG9_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 9 (LGALS9), transcript variant 1, mRNA.	279	Galectin 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	galactose binding|signal transducer activity			endometrium(3)|large_intestine(2)|lung(12)|skin(1)	18	Lung NSC(42;0.0103)		BRCA - Breast invasive adenocarcinoma(3;0.0141)	UCEC - Uterine corpus endometrioid carcinoma (53;0.155)		GCTGTGGTCCGCAACACCCAG	0.587													A	25974373	G	A	25974373	3	1	118	1	0	0	0	0	1	0	0	0	8808	1087	38	1	874	1	LGALS9	17	25974373	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	4243306	25974373	55220837	66	7938											
SSH2	85464	broad.mit.edu	37	chr17	27977712	27977712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaagtgtcattccagtacgCcaggagatccgttgcctctt	8	12	10	11	2	2	1	1	0	1	1	4	2	4	1	4	1	2	3	4	1	2	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:27977712C>A	uc002heo.1	-	11	1105	c.1105G>T	c.(1105-1107)Gcg>Tcg	p.A369S	SSH2_uc010wbh.1_Missense_Mutation_p.A396S|SSH2_uc002hep.1_Missense_Mutation_p.A369S	NM_033389	NP_203747	Q76I76	SSH2_HUMAN	Homo sapiens slingshot homolog 2 (Drosophila) (SSH2), mRNA.	369	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCAGTACGCCAGGAGATCC	0.428													A	27977712	C	A	27977712	3	1	118	1	0	0	0	0	1	0	0	0	15281	739	26	4	3182	4	SSH2	17	27977712	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	2003339	27977712	53217498	67	7939											
BPTF	2186	broad.mit.edu	37	chr17	65889772	65889775	+	Frame_Shift_Del	DEL	GACT	GACT	-																															tcttaccatatctactctgaGactgactatcacccaattag																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:65889772_65889775delGACT	uc002jgf.3	+	5	2403_2406	c.2342_2345delGACT	c.(2341-2346)agactgfs	p.R781fs	BPTF_uc002jge.3_Frame_Shift_Del_p.R907fs|BPTF_uc010wqm.1_Frame_Shift_Del_p.R844fs	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	907					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTACTCTGAGACTGACTATCACC	0.412													-	65889775	GACT	-	65889772	7	5	118	1	0	1	0	1	0	0	0	0	1504	942	33	0	2750	0	BPTF	17	65889772	Frame_Shift_Del	DEL	GACT	TCGA-12-1597-01B-01D-1495-08	37912060	65889772	15305438	68	7940											
RNF157	114804	broad.mit.edu	37	chr17	74157723	74157723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggatctgaagcagtgcccGgaaggctgtgaaggagaaaa	13	6	15	7	2	1	3	0	2	1	1	2	6	1	5	1	4	2	2	1	4	5	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr17:74157723G>A	uc002jqz.3	-	10	1027	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	RNF157_uc002jra.3_Missense_Mutation_p.R320W	NM_052916	NP_443148	Q96PX1	RN157_HUMAN	Homo sapiens ring finger protein 157 (RNF157), mRNA.	320							zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	25			LUSC - Lung squamous cell carcinoma(166;0.187)			AGCAGTGCCCGGAAGGCTGTG	0.507													A	74157723	G	A	74157723	3	1	118	1	0	0	0	0	1	0	0	0	13545	1115	39	1	1117	1	RNF157	17	74157723	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	8267951	74157723	7037487	69	7941											
SMAD7	4092	broad.mit.edu	37	chr18	46447857	46447857	+	Frame_Shift_Del	DEL	G	G	-																															gcacggtaaagcccgtccacGgctgctgcataaactcgtgg																										TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:46447857delG	uc002ldg.3	-	3	1453	c.1166delC	c.(1165-1167)ccgfs	p.P389fs	SMAD7_uc002ldf.3_Frame_Shift_Del_p.P201fs|SMAD7_uc010xde.2_Frame_Shift_Del_p.P174fs|SMAD7_uc021ujr.1_Frame_Shift_Del_p.P388fs	NM_005904	NP_005895	O15105	SMAD7_HUMAN	Homo sapiens SMAD family member 7 (SMAD7), transcript variant 1, mRNA.	389	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					GCCCGTCCACGGCTGCTGCAT	0.582													-	46447857	G	-	46447857	7	5	118	1	0	1	0	1	0	0	0	0	14857	1116	39	0	118	0	SMAD7	18	46447857	Frame_Shift_Del	DEL	G	TCGA-12-1597-01B-01D-1495-08		46447857	31629391	70	7942											
LMAN1	3998	broad.mit.edu	37	chr18	57022568	57022568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcattgtcaaaagaatCaaaaaatattccaacaccat	19	10	2	10	0	3	1	3	0	0	1	5	1	5	1	3	0	1	0	3	0	8	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr18:57022568C>A	uc002lhz.3	-	2	486	c.454G>T	c.(454-456)Gat>Tat	p.D152Y	LMAN1_uc010xek.1_Missense_Mutation_p.D152Y	NM_005570	NP_005561	P49257	LMAN1_HUMAN	Homo sapiens lectin, mannose-binding, 1 (LMAN1), mRNA.	152	L-type lectin-like.				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TCAAAAGAATCAAAAAATATT	0.353													A	57022568	C	A	57022568	3	1	118	1	0	0	0	0	1	0	0	0	8897	826	29	4	1122	4	LMAN1	18	57022568	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	10574711	57022568	21054680	71	7943											
LSR	51599	broad.mit.edu	37	chr19	35741541	35741541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagattactaccagggcCggaggattaccatcaccgga	11	7	13	10	2	1	1	1	0	0	1	1	5	1	4	4	5	3	0	4	5	3	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:35741541C>T	uc002nyl.3	+	1	800	c.577C>T	c.(577-579)Cgg>Tgg	p.R193W	LSR_uc010xsr.2_Missense_Mutation_p.R193W|LSR_uc002nym.3_Missense_Mutation_p.R193W|LSR_uc002nyn.3_Missense_Mutation_p.R193W|LSR_uc002nyo.3_Missense_Mutation_p.R193W|LSR_uc002nyp.3_Missense_Mutation_p.R156W	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	193	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CTACCAGGGCCGGAGGATTAC	0.642													T	35741541	C	T	35741541	3	4	118	1	0	0	0	0	1	0	0	0	9134	643	23	1	583	1	LSR	19	35741541	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		35741541	23387442	72	7944											
ATP4A	495	broad.mit.edu	37	chr19	36046636	36046636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgatgtcctccactgtctCgctgccttccgagatgatgc	6	11	10	14	3	1	2	0	1	1	1	5	4	4	2	4	0	3	1	4	0	0	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr19:36046636C>T	uc002oal.1	-	12	1977	c.1948G>A	c.(1948-1950)Gag>Aag	p.E650K	ATP4A_uc010eee.1_5'UTR	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	650					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCCACTGTCTCGCTGCCTTCC	0.622													T	36046636	C	T	36046636	3	4	118	1	0	0	0	0	1	0	0	0	1150	893	31	1	1199	1	ATP4A	19	36046636	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	305095	36046636	23082347	73	7945											
PTGIS	5740	broad.mit.edu	37	chr20	48140704	48140704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatttgctccggtgggccCgcctggccagcctggctggg	2	8	16	15	2	0	0	0	0	0	0	1	0	1	0	6	5	2	2	6	5	0	1	rs45571835		TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:48140704C>T	uc002xut.3	-	5	800	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	PTGIS_uc010zyi.2_Missense_Mutation_p.R110Q	NM_000961	NP_000952	Q16647	PTGIS_HUMAN	Homo sapiens prostaglandin I2 (prostacyclin) synthase (PTGIS), mRNA.	249					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	CCGGTGGGCCCGCCTGGCCAG	0.627													T	48140704	C	T	48140704	3	4	118	1	0	0	0	0	1	0	0	0	12838	652	23	1	776	1	PTGIS	20	48140704	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		48140704	14884816	74	7946											
ATP9A	10079	broad.mit.edu	37	chr20	50225158	50225158	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacatggtgtaaattgTggagtacctgggagagaaaa	16	8	14	3	0	0	1	0	0	0	1	0	5	0	4	1	4	2	2	1	4	6	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:50225158T>C	uc002xwg.1	-	24	2644	c.2644A>G	c.(2644-2646)Aca>Gca	p.T882A	ATP9A_uc010gih.1_Missense_Mutation_p.T746A|ATP9A_uc002xwf.1_Missense_Mutation_p.T54A	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	882					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GTGTAAATTGTGGAGTACCTG	0.507													C	50225158	T	C	50225158	3	2	118	1	0	0	0	0	1	0	0	0	1203	1696	59	3	515	3	ATP9A	20	50225158	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08	2084454	50225158	12800362	75	7947											
C20orf20	55257	broad.mit.edu	37	chr20	61430922	61430922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaagcggaagcgcagccGggtcaccgacaaagtcctga	13	3	13	12	4	1	2	1	1	0	1	2	4	2	3	3	2	3	1	3	2	3	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr20:61430922G>A	uc002ydi.3	+	4	613	c.542G>A	c.(541-543)cGg>cAg	p.R181Q		NM_018270	NP_060740	Q9NV56	MRGBP_HUMAN	Homo sapiens chromosome 20 open reading frame 20 (C20orf20), mRNA.	181					chromatin modification|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	H4/H2A histone acetyltransferase complex		p.R181W(2)|p.S180S(1)		endometrium(1)|lung(5)|skin(2)|urinary_tract(3)	11	Breast(26;3.65e-08)					AAGCGCAGCCGGGTCACCGAC	0.582													A	61430922	G	A	61430922	3	1	118	1	0	0	0	0	1	0	0	0	2124	1116	39	1	560	1	C20orf20	20	61430922	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	11205764	61430922	1594598	76	7948											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032293	46032293	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatcaggctgcaccgaCtcctgcacaccttcatgctg	8	9	8	16	1	2	0	2	0	0	0	3	1	3	0	4	1	4	4	4	1	1	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr21:46032293C>T	uc002zfo.1	+	0	298	c.276C>T	c.(274-276)gaC>gaT	p.D92D	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198695	NP_941968	P60410	KR108_HUMAN	Homo sapiens keratin associated protein 10-8 (KRTAP10-8), mRNA.	92	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCACCGACTCCTGCACAC	0.662													T	46032293	C	T	46032293	2	4	118	1	0	0	0	0	0	0	0	1	8573	564	20	2		2	KRTAP10-8	21	46032293	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08		46032293	2097602	77	7949											
IL17RA	23765	broad.mit.edu	37	chr22	17589233	17589233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgatccccccaccgcTgaagcccaggaaggtctgga	9	6	11	15	1	1	3	0	3	1	0	2	5	2	5	6	3	1	1	6	3	2	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:17589233T>C	uc002zly.3	+	12	1255	c.1124T>C	c.(1123-1125)cTg>cCg	p.L375P		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	375					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		CCCCCACCGCTGAAGCCCAGG	0.637													C	17589233	T	C	17589233	3	2	118	1	0	0	0	0	1	0	0	0	7697	1580	55	3	1174	3	IL17RA	22	17589233	Missense_Mutation	SNP	T	TCGA-12-1597-01B-01D-1495-08		17589233	33715333	78	7950											
APOBEC3B	200315	broad.mit.edu	37	chr22	39355652	39355652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggacaatggcacctcGgtcaagatggaccagcacag	11	5	12	13	2	1	1	1	0	0	1	2	3	1	3	3	4	1	2	3	4	2	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:39355652G>A	uc003awn.2	+	1	305	c.135G>A	c.(133-135)tcG>tcA	p.S45S	APOBEC3B_uc011aob.1_Silent_p.S27S|APOBEC3B_uc011aoc.1_Silent_p.S45S	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	228					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATGGCACCTCGGTCAAGATGG	0.532													A	39355652	G	A	39355652	2	1	118	1	0	0	0	0	0	0	0	1	793	1103	39	1		1	APOBEC3B	22	39355652	Silent	SNP	G	TCGA-12-1597-01B-01D-1495-08	21766419	39355652	11948914	79	7951											
MCAT	27349	broad.mit.edu	37	chr22	43538975	43538975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgacagcggccagcgatGccacgaagatcgcgggctga	9	5	14	13	6	1	2	0	1	1	1	3	5	1	2	2	2	3	1	2	2	1	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chr22:43538975G>A	uc003bdl.1	-	0	429	c.380C>T	c.(379-381)gCa>gTa	p.A127V	MCAT_uc003bdm.1_Missense_Mutation_p.A127V	NM_173467	NP_775738	Q8IVS2	FABD_HUMAN	Homo sapiens malonyl CoA:ACP acyltransferase (mitochondrial) (MCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	127					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GGCCAGCGATGCCACGAAGAT	0.682													A	43538975	G	A	43538975	3	1	118	1	0	0	0	0	1	0	0	0	9447	1319	46	2	808	2	MCAT	22	43538975	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	4183323	43538975	7765591	80	7952											
CXorf59	286464	broad.mit.edu	37	chrX	36103466	36103466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaattctactcatcaacctCgccaccccaaaagttttcca	12	10	3	16	1	3	0	2	0	1	0	5	0	4	0	5	0	2	2	5	0	5	4			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:36103466C>T	uc004ddk.1	+	4	638	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	151						integral to membrane		p.S151S(1)		breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						TCATCAACCTCGCCACCCCAA	0.338													T	36103466	C	T	36103466	3	4	118	1	0	0	0	0	1	0	0	0	4148	893	31	1	466	1	CXorf59	23	36103466	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08		36103466	119167094	81	7953											
FAM47C	442444	broad.mit.edu	37	chrX	37028621	37028621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaagactcgggtgtccaGtctccacgcggagcctcctg	6	8	11	16	3	1	1	0	0	1	1	6	2	4	2	5	2	1	0	5	2	1	0			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:37028621G>T	uc004ddl.2	+	0	2190	c.2138G>T	c.(2137-2139)aGt>aTt	p.S713I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	713										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CGGGTGTCCAGTCTCCACGCG	0.647													T	37028621	G	T	37028621	3	4	118	1	0	0	0	0	1	0	0	0	5622	1029	36	4	2140	4	FAM47C	23	37028621	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	925155	37028621	118241939	82	7954											
DGKK	139189	broad.mit.edu	37	chrX	50146548	50146548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtattccacttgcagtCtttgcttgctctcaaagcac	9	14	6	12	0	2	0	1	0	2	0	4	0	3	0	1	0	4	5	1	0	3	5			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:50146548C>A	uc010njr.2	-	5	1170	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y		NM_001013742	NP_001013764	Q5KSL6	DGKK_HUMAN	Homo sapiens diacylglycerol kinase, kappa (DGKK), mRNA.	376					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.D172N(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CACTTGCAGTCTTTGCTTGCT	0.458													A	50146548	C	A	50146548	3	1	118	1	0	0	0	0	1	0	0	0	4511	913	32	4	2780	4	DGKK	23	50146548	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	13117927	50146548	105124012	83	7955											
MED12	9968	broad.mit.edu	37	chrX	70342412	70342412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggagcggggacaggcaGttgaagttcgctggtctttc	8	10	15	8	2	2	1	1	1	1	0	4	3	2	3	0	5	1	4	0	5	2	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:70342412G>C	uc004dyy.3	+	8	1502	c.1303G>C	c.(1303-1305)Gtt>Ctt	p.V435L	MED12_uc011mpq.1_Missense_Mutation_p.V435L|MED12_uc004dyz.3_Missense_Mutation_p.V435L|MED12_uc004dza.3_Missense_Mutation_p.V282L|MED12_uc022byq.1_5'Flank	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	435					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGGACAGGCAGTTGAAGTTCG	0.468			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						C	70342412	G	C	70342412	3	2	118	1	0	0	0	0	1	0	0	0	9503	1029	36	4	1337	4	MED12	23	70342412	Missense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	20195864	70342412	84928148	84	7956											
FGF16	8823	broad.mit.edu	37	chrX	76711875	76711875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcagagagacagtattaCgtggccctgaacaaagatgg	14	7	12	8	1	1	4	1	1	0	3	1	6	1	4	1	2	2	1	1	2	4	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:76711875C>T	uc011mqp.2	+	1	213	c.213C>T	c.(211-213)taC>taT	p.Y71Y		NM_003868	NP_003859	O43320	FGF16_HUMAN	Homo sapiens fibroblast growth factor 16 (FGF16), mRNA.	162					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						GACAGTATTACGTGGCCCTGA	0.463													T	76711875	C	T	76711875	2	4	118	1	0	0	0	0	0	0	0	1	5893	547	19	1		1	FGF16	23	76711875	Silent	SNP	C	TCGA-12-1597-01B-01D-1495-08	6369463	76711875	78558685	85	7957											
ATP7A	538	broad.mit.edu	37	chrX	77264612	77264612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacaggtgaggggaatgaCgtgtgcctcctgcgtacata	10	10	13	8	2	0	2	0	2	0	0	1	3	1	3	2	3	4	1	2	3	4	3			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:77264612C>T	uc004ecx.4	+	6	1881	c.1721C>T	c.(1720-1722)aCg>aTg	p.T574M	ATP7A_uc004ecw.2_Missense_Mutation_p.T574M	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	574	HMA 6.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity	p.T574M(3)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGGGGAATGACGTGTGCCTCC	0.388													T	77264612	C	T	77264612	3	4	118	1	0	0	0	0	1	0	0	0	1195	536	19	1	1743	1	ATP7A	23	77264612	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	552737	77264612	78005948	86	7958											
TAF7L	54457	broad.mit.edu	37	chrX	100531023	100531023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccactttcatgatgagatCcttctgtctttgtgctttat	6	20	6	9	0	3	2	1	2	2	1	5	3	5	2	2	0	1	1	2	0	1	6			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:100531023C>A	uc004ehb.3	-	10	1275	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y	TAF7L_uc004eha.3_Missense_Mutation_p.D257Y|TAF7L_uc004ehc.2_Missense_Mutation_p.D331Y	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	417					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						ATGATGAGATCCTTCTGTCTT	0.353													A	100531023	C	A	100531023	3	1	118	1	0	0	0	0	1	0	0	0	15630	855	30	4	151	4	TAF7L	23	100531023	Missense_Mutation	SNP	C	TCGA-12-1597-01B-01D-1495-08	23266411	100531023	54739537	87	7959											
SRPK3	26576	broad.mit.edu	37	chrX	153050273	153050273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtgctgatcggcgccgaAtacggccccccggcagacat	8	5	14	14	5	0	2	0	1	0	1	1	4	0	2	4	4	2	2	4	4	2	1			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:153050273A>G	uc004fik.3	+	17	3940	c.1515A>G	c.(1513-1515)gaA>gaG	p.E505E	SRPK3_uc004fim.3_Silent_p.E405E|SRPK3_uc004fil.3_Silent_p.E439E|SRPK3_uc004fin.3_Silent_p.E438E|SRPK3_uc010nul.3_Silent_p.E363E	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	439	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGGCGCCGAATACGGCCCCC	0.692													G	153050273	A	G	153050273	2	3	118	1	0	0	0	0	0	0	0	1	15257	98	4	3		3	SRPK3	23	153050273	Silent	SNP	A	TCGA-12-1597-01B-01D-1495-08	52519250	153050273	2220287	88	7960											
MTCP1	4515	broad.mit.edu	37	chrX	154294043	154294043	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgaatttgctggactcGtgcccttaggaaactcgtct	9	12	9	11	2	1	1	0	1	1	0	3	3	1	3	2	2	4	1	2	2	4	2			TCGA-12-1597-01B-01D-1495-08	TCGA-12-1597-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d35c610-cc06-4aa5-8c96-2f7b7465069f	ecbbe2f6-d86b-4498-be57-285695ea7eb2	g.chrX:154294043G>A	uc004fmz.2	-	2	753	c.127C>T	c.(127-129)Cga>Tga	p.R43*	MTCP1NB_uc004fmy.3_Intron	NM_001018025	NP_001018025	P56278	MTCP1_HUMAN	Homo sapiens mature T-cell proliferation 1 (MTCP1), nuclear gene encoding mitochondrial protein, mRNA.	43					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGCTGGACTCGTGCCCTTAGG	0.458			T	TRA@	T cell prolymphocytic leukemia								A	154294043	G	A	154294043	4	1	118	1	0	0	0	0	0	1	0	0	9991	1153	40	1	204	1	MTCP1	23	154294043	Nonsense_Mutation	SNP	G	TCGA-12-1597-01B-01D-1495-08	1243770	154294043	976517	89	7961											
EPHA10	284656	broad.mit.edu	37	chr1	38227382	38227382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaccccgccggctgagcGgtccgatctcgcgcacctct	6	6	12	17	6	2	1	0	1	2	0	4	3	3	2	5	3	2	2	5	3	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:38227382G>A	uc009vvi.3	-	2	631	c.545C>T	c.(544-546)cCg>cTg	p.P182L	EPHA10_uc001cbw.4_Missense_Mutation_p.P182L	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	182						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.P182P(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CCGGCTGAGCGGTCCGATCTC	0.657													A	38227382	G	A	38227382	3	1	119	1	0	0	0	0	1	0	0	0	5207	1116	39	1	2579	1	EPHA10	1	38227382	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		38227382	211023239	1	7962											
SLC2A1	6513	broad.mit.edu	37	chr1	43396302	43396302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccagcttacctgggCgatgaggatgccgacgacga	8	6	13	14	4	0	1	0	1	0	0	0	6	0	2	5	2	4	1	5	2	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:43396302C>T	uc001cik.2	-	3	1036	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	171					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTTACCTGGGCGATGAGGATG	0.642													T	43396302	C	T	43396302	3	4	119	1	0	0	0	0	1	0	0	0	14632	768	27	1	995	1	SLC2A1	1	43396302	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	5168920	43396302	205854319	2	7963											
KLF17	128209	broad.mit.edu	37	chr1	44595024	44595024	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgactctttttccccaaGgataacgagaactcagcgcc	11	9	7	14	2	2	2	1	1	1	1	3	4	3	3	4	1	3	0	4	1	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:44595024G>A	uc001clp.3	+	2	140	c.82_splice	c.e2-1	p.D28_splice	KLF17_uc009vxf.1_Splice_Site	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	28					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TTTTCCCCAAGGATAACGAGA	0.483													A	44595024	G	A	44595024	5	1	119	1	0	0	0	0	0	0	1	0	8403	1014	35	2	87	2	KLF17	1	44595024	Splice_Site	SNP	G	TCGA-12-3649-01A-01D-1495-08	1198722	44595024	204655597	3	7964											
EPHX4	253152	broad.mit.edu	37	chr1	92495767	92495767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaacttttgtggagcctcgGcaaggggccggcgcagacct	8	7	14	12	3	0	1	0	0	0	1	1	2	0	2	3	5	2	2	3	5	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:92495767G>A	uc001don.2	+	0	235	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	44						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TGGAGCCTCGGCAAGGGGCCG	0.677													A	92495767	G	A	92495767	3	1	119	1	0	0	0	0	1	0	0	0	5223	1203	42	2	133	2	EPHX4	1	92495767	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	47900743	92495767	156754854	4	7965											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:115256529T>A	uc009wgu.3	-	2	436	c.182A>T	c.(181-183)cAa>cTa	p.Q61L		NM_002524	NP_002515	P01111	RASN_HUMAN	Homo sapiens neuroblastoma RAS viral (v-ras) oncogene homolog (NRAS), mRNA.	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(1713)|p.Q61K(635)|p.Q61L(370)|p.Q61H(123)|p.Q61P(46)|p.Q61E(9)|p.G60E(6)|p.Q61?(5)|p.Q61Q(3)|p.G60R(1)|p.G60>?(1)|p.Q61*(1)|p.Q61_E62>HK(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			A	115256529	T	A	115256529	3	1	119	1	0	0	0	0	1	0	0	0	10716	1812	63	5	399	5	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	22760762	115256529	133994092	5	7966											
OR6K2	81448	broad.mit.edu	37	chr1	158669760	158669760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctccagctgaatgaataCgtagaattacagccacaata	15	8	8	10	1	0	3	0	2	0	1	1	3	1	3	3	1	4	2	3	1	8	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:158669760C>T	uc001fsu.1	-	0	683	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TGAATGAATACGTAGAATTAC	0.453													T	158669760	C	T	158669760	3	4	119	1	0	0	0	0	1	0	0	0	11278	536	19	1	295	1	OR6K2	1	158669760	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	43413231	158669760	90580861	6	7967											
GPR161	23432	broad.mit.edu	37	chr1	168066138	168066138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagttcttcctcccggtcCtctgagcatcctcctccacg	4	12	8	17	2	2	1	0	1	2	0	8	2	8	2	6	2	1	2	6	2	0	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:168066138C>G	uc010pln.2	-	3	1301	c.767G>C	c.(766-768)aGg>aCg	p.R256T	GPR161_uc001gfb.3_Missense_Mutation_p.R104T|GPR161_uc001gfc.3_Missense_Mutation_p.R236T|GPR161_uc010pll.2_Missense_Mutation_p.R146T|GPR161_uc010plm.2_Missense_Mutation_p.R122T|GPR161_uc009wvo.3_Missense_Mutation_p.R253T|GPR161_uc001gfd.3_Missense_Mutation_p.R236T|GPR161_uc001gfe.1_Missense_Mutation_p.R236T	NM_153832	NP_722561	Q8N6U8	GP161_HUMAN	Homo sapiens G protein-coupled receptor 161 (GPR161), transcript variant 2, mRNA.	236					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					CCTCCCGGTCCTCTGAGCATC	0.597													G	168066138	C	G	168066138	3	3	119	1	0	0	0	0	1	0	0	0	6719	681	24	4	898	4	GPR161	1	168066138	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	9396378	168066138	81184483	7	7968											
CR2	1380	broad.mit.edu	37	chr1	207644110	207644110	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctcctaacatcctCaatgggcaaaaggaagatag	14	6	9	12	0	1	1	1	0	0	1	3	2	3	2	4	3	1	1	4	3	6	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:207644110C>A	uc001hfw.3	+	6	1370	c.1251C>A	c.(1249-1251)ctC>ctA	p.L417L	CR2_uc001hfv.3_Silent_p.L417L|CR2_uc009xch.3_Silent_p.L417L|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	417	Sushi 7.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTAACATCCTCAATGGGCAAA	0.418													A	207644110	C	A	207644110	2	1	119	1	0	0	0	0	0	0	0	1	3873	813	29	4		4	CR2	1	207644110	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	39577972	207644110	41606511	8	7969											
LYST	1130	broad.mit.edu	37	chr1	235866229	235866229	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatggtttctagcgctcGtctctgaactggatcttcaa	8	15	8	10	2	5	1	2	1	3	0	7	2	5	2	0	2	2	2	0	2	4	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:235866229G>A	uc001hxj.2	-	44	10367	c.10192C>T	c.(10192-10194)Cga>Tga	p.R3398*	LYST_uc001hxi.2_Nonsense_Mutation_p.R622*	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3398	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TCTAGCGCTCGTCTCTGAACT	0.453													A	235866229	G	A	235866229	4	1	119	1	0	0	0	0	0	1	0	0	9199	1153	40	1	1249	1	LYST	1	235866229	Nonsense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	28222119	235866229	13384392	9	7970											
RYR2	6262	broad.mit.edu	37	chr1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccggctctactcagccGtctgtgctcttgggaaccac	5	11	9	16	2	5	0	1	0	4	0	6	1	5	1	3	2	4	2	3	2	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237777418G>A	uc001hyl.1	+	36	5110	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1664	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517													A	237777418	G	A	237777418	3	1	119	1	0	0	0	0	1	0	0	0	13860	1145	40	1	5136	1	RYR2	1	237777418	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	1911189	237777418	11473203	10	7971											
RYR2	6262	broad.mit.edu	37	chr1	237995876	237995876	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttatgtctggaagatgtatCaagaaaggtgttgggaattt	12	14	12	3	0	2	2	1	0	1	2	2	4	2	4	0	3	0	2	0	3	6	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr1:237995876C>G	uc001hyl.1	+	104	14953	c.14833C>G	c.(14833-14835)Caa>Gaa	p.Q4945E	RYR2_uc010pyb.1_3'UTR	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4945					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R4945S(2)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAAGATGTATCAAGAAAGGTG	0.383													G	237995876	C	G	237995876	3	3	119	1	0	0	0	0	1	0	0	0	13860	827	29	4	15251	4	RYR2	1	237995876	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	218458	237995876	11254745	11	7972											
GRHL1	29841	broad.mit.edu	37	chr2	10102621	10102621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcagtctgcggatgcctgGcatgaattcagaggactatg	9	11	12	9	1	3	2	2	1	2	1	4	4	3	4	1	3	2	1	1	3	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:10102621G>A	uc002raa.3	+	4	878	c.707G>A	c.(706-708)gGc>gAc	p.G236D	GRHL1_uc002rab.3_Non-coding_Transcript|GRHL1_uc002rad.3_Intron|GRHL1_uc010yjb.2_Missense_Mutation_p.G85D	NM_198182	NP_937825	Q9NZI5	GRHL1_HUMAN	Homo sapiens grainyhead-like 1 (Drosophila) (GRHL1), mRNA.	236					cellular lipid metabolic process|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding			cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.246)		CGGATGCCTGGCATGAATTCA	0.358													A	10102621	G	A	10102621	3	1	119	1	0	0	0	0	1	0	0	0	6818	1203	42	2	725	2	GRHL1	2	10102621	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		10102621	233096752	12	7973											
CCDC85A	114800	broad.mit.edu	37	chr2	56420095	56420095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactccaagcacaggagcGccagccccgagcatccacag	12	2	10	17	2	0	0	0	0	0	0	2	2	2	1	5	1	5	3	5	1	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:56420095G>A	uc002rzn.3	+	1	1262	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	254	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCACAGGAGCGCCAGCCCCGA	0.657													A	56420095	G	A	56420095	3	1	119	1	0	0	0	0	1	0	0	0	2887	1087	38	1	766	1	CCDC85A	2	56420095	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	46317474	56420095	186779278	13	7974											
SULT1C3	442038	broad.mit.edu	37	chr2	108872031	108872031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccttgatttcagattGtctatgtggccagaaatccc	8	14	7	12	0	3	3	1	1	2	2	5	3	4	3	4	1	0	0	4	1	2	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:108872031G>T	uc010ywo.2	+	3	403	c.403G>T	c.(403-405)Gtc>Ttc	p.V135F		NM_001008743	NP_001008743	Q6IMI6	ST1C3_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 3 (SULT1C3), mRNA.	135						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						ATTTCAGATTGTCTATGTGGC	0.413													T	108872031	G	T	108872031	3	4	119	1	0	0	0	0	1	0	0	0	15474	1377	48	4	417	4	SULT1C3	2	108872031	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	52451936	108872031	134327342	14	7975											
SLC4A10	57282	broad.mit.edu	37	chr2	162813661	162813661	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccaggagaacaacccAaatttctcggcattcgggag	12	7	10	12	2	1	1	0	0	1	1	4	3	2	2	2	3	3	2	2	3	3	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:162813661A>T	uc002ubx.4	+	19	2888	c.2704A>T	c.(2704-2706)Aaa>Taa	p.K902*	SLC4A10_uc010zcs.2_Nonsense_Mutation_p.K883*|SLC4A10_uc002uby.4_Nonsense_Mutation_p.K872*	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	902					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity	p.K901K(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAACAACCCAAATTTCTCGG	0.448													T	162813661	A	T	162813661	4	4	119	1	0	0	0	0	0	1	0	0	14745	131	5	5	2867	5	SLC4A10	2	162813661	Nonsense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	53941630	162813661	80385712	15	7976											
SCN9A	6335	broad.mit.edu	37	chr2	167141278	167141278	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttgaaactaaaaagActtgttctgctgcttcgcct	9	14	7	11	1	1	2	0	1	1	1	2	2	1	2	2	0	4	3	2	0	4	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:167141278A>T	uc010fpl.3	-	11	2000	c.1659T>A	c.(1657-1659)agT>agA	p.S553R	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.S424R|SCN9A_uc002uds.1_Missense_Mutation_p.S424R|SCN9A_uc002udt.1_Missense_Mutation_p.S424R	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	553						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	AACTAAAAAGACTTGTTCTGC	0.443													T	167141278	A	T	167141278	3	4	119	1	0	0	0	0	1	0	0	0	14018	272	10	5	4338	5	SCN9A	2	167141278	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	4327617	167141278	76058095	16	7977											
TTN	7273	broad.mit.edu	37	chr2	179456812	179456812	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggttgccttcattcagaTgcttagcgaagtgactcttt	8	15	9	9	1	3	2	2	1	1	1	3	3	3	2	1	1	3	2	1	1	2	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr2:179456812T>A	uc021vsy.1	-	250	52340	c.52115A>T	c.(52114-52116)cAt>cTt	p.H17372L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.H11067L|TTN_uc021vta.1_Missense_Mutation_p.H11000L|TTN_uc021vtb.1_Missense_Mutation_p.H10875L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18299	Fibronectin type-III 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATTCAGATGCTTAGCGAA	0.463													A	179456812	T	A	179456812	3	1	119	1	0	0	0	0	1	0	0	0	16837	1464	51	5	48404	5	TTN	2	179456812	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	12315534	179456812	63742561	17	7978											
SLC4A7	9497	broad.mit.edu	37	chr3	27431585	27431585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattccaaataattttataCggtcaaataactacatatag	17	13	4	7	1	1	0	1	0	0	0	2	0	2	0	1	1	3	1	1	1	9	9			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:27431585C>T	uc011aww.2	-	21	3418	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H	SLC4A7_uc011awx.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wun.1_Missense_Mutation_p.R942H|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.R1049H|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.R938H|SLC4A7_uc011axb.2_Missense_Mutation_p.R1053H|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.R938H|SLC4A7_uc010hfl.3_Missense_Mutation_p.R607H|SLC4A7_uc003cdv.3_Missense_Mutation_p.R1057H|SLC4A7_uc003cdw.3_Missense_Mutation_p.R933H	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	1057						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TAATTTTATACGGTCAAATAA	0.328													T	27431585	C	T	27431585	3	4	119	1	0	0	0	0	1	0	0	0	14752	536	19	1	490	1	SLC4A7	3	27431585	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		27431585	170590845	18	7979											
MST1R	4486	broad.mit.edu	37	chr3	49939965	49939965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagagttggggcccaCgccaggaccaccatccttgc	9	5	12	15	2	0	1	0	0	0	1	1	4	1	2	5	3	1	1	5	3	0	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:49939965C>T	uc003cxy.4	-	0	1342	c.1078G>A	c.(1078-1080)Gtg>Atg	p.V360M	MST1R_uc011bdc.2_Missense_Mutation_p.V360M|MST1R_uc011bdd.2_Missense_Mutation_p.V360M|MST1R_uc011bde.1_Missense_Mutation_p.V360M|MST1R_uc011bdf.1_Missense_Mutation_p.V360M|MST1R_uc011bdg.2_Missense_Mutation_p.V360M	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	360	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TTGGGGCCCACGCCAGGACCA	0.587													T	49939965	C	T	49939965	3	4	119	1	0	0	0	0	1	0	0	0	9967	536	19	1	3204	1	MST1R	3	49939965	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	22508380	49939965	148082465	19	7980											
ITIH1	3697	broad.mit.edu	37	chr3	52816072	52816072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtcgagacaagatctgCgacctcctggtgagccctga	9	8	12	12	2	2	4	1	2	1	2	4	6	3	4	3	1	2	0	3	1	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr3:52816072C>T	uc003dfs.3	+	6	834	c.804C>T	c.(802-804)tgC>tgT	p.C268C	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Silent_p.C126C|ITIH1_uc021wzg.1_5'UTR|ITIH1_uc021wzh.1_5'UTR|ITIH1_uc003dft.3_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	268					hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		ACAAGATCTGCGACCTCCTGG	0.587													T	52816072	C	T	52816072	2	4	119	1	0	0	0	0	0	0	0	1	7961	776	27	1		1	ITIH1	3	52816072	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	2876107	52816072	145206358	20	7981											
SORCS2	57537	broad.mit.edu	37	chr4	7666134	7666134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccgagaagatgctgacagCcccattcgcaggccccattg	9	7	10	15	2	0	3	0	1	0	2	2	4	1	3	5	1	2	2	5	1	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:7666134C>T	uc003gkb.4	+	6	1007	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	SORCS2_uc011bwi.2_Missense_Mutation_p.A164V	NM_020777	NP_065828	Q96PQ0	SORC2_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 2 (SORCS2), mRNA.	336						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATGCTGACAGCCCCATTCGCA	0.557													T	7666134	C	T	7666134	3	4	119	1	0	0	0	0	1	0	0	0	15025	739	26	2	1033	2	SORCS2	4	7666134	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		7666134	183488142	21	7982											
GC	2638	broad.mit.edu	37	chr4	72618353	72618353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaggcaattttgcttttAgtcgctctgccagtctgaaa	9	14	8	10	1	3	1	1	1	2	0	4	1	3	1	1	1	2	3	1	1	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:72618353A>G	uc010iif.3	-	11	1429	c.1334T>C	c.(1333-1335)cTa>cCa	p.L445P	GC_uc003hge.3_Missense_Mutation_p.L426P|GC_uc021xpb.1_Missense_Mutation_p.L426P	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	426	Albumin 3.		R -> C (in allele GC*2A9).|R -> H (in allele GC*1A1; dbSNP:rs9016).		hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TTTTGCTTTTAGTCGCTCTGC	0.388													G	72618353	A	G	72618353	3	3	119	1	0	0	0	0	1	0	0	0	6336	420	15	3	155	3	GC	4	72618353	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	64952219	72618353	118535923	22	7983											
FAM190A	401145	broad.mit.edu	37	chr4	91230163	91230163	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcaggaagctctttacAatctcctttgctttctgctg	7	14	9	11	1	3	0	0	0	3	0	4	1	3	1	1	2	4	4	1	2	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:91230163A>T	uc003hsv.4	+	1	1068	c.728A>T	c.(727-729)cAa>cTa	p.Q243L	FAM190A_uc003hsu.3_Missense_Mutation_p.Q243L|FAM190A_uc010ikv.2_Non-coding_Transcript|FAM190A_uc003hsw.3_Missense_Mutation_p.Q243L	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.	243										NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						AGCTCTTTACAATCTCCTTTG	0.418													T	91230163	A	T	91230163	3	4	119	1	0	0	0	0	1	0	0	0	5568	130	5	5	730	5	FAM190A	4	91230163	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	18611810	91230163	99924113	23	7984											
C4orf21	55345	broad.mit.edu	37	chr4	113481967	113481967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtgatgccatcatttGagctatttgaattagagctg	10	16	9	6	0	2	4	2	3	0	1	2	4	2	4	1	0	3	2	1	0	3	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:113481967G>T	uc003iau.3	-	18	5093	c.4882C>A	c.(4882-4884)Caa>Aaa	p.Q1628K	C4orf21_uc003iav.3_Non-coding_Transcript|C4orf21_uc003iat.3_Missense_Mutation_p.Q86K	NM_018392	NP_060862	Q86YA3	CD021_HUMAN	Homo sapiens chromosome 4 open reading frame 21 (C4orf21), mRNA.	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCCATCATTTGAGCTATTTGA	0.378													T	113481967	G	T	113481967	3	4	119	1	0	0	0	0	1	0	0	0	2276	1299	45	4	1472	4	C4orf21	4	113481967	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	22251804	113481967	77672309	24	7985											
ANK2	287	broad.mit.edu	37	chr4	114251469	114251469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagacacaatgggctcCgaatcattattccacctcgg	11	9	9	12	2	1	1	1	0	0	1	4	3	3	1	3	2	1	2	3	2	3	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr4:114251469C>G	uc003ibe.4	+	26	3068	c.2968C>G	c.(2968-2970)Cga>Gga	p.R990G	ANK2_uc003ibd.4_Missense_Mutation_p.R981G|ANK2_uc003ibf.4_Missense_Mutation_p.R990G|ANK2_uc011cgc.2_Missense_Mutation_p.R199G|ANK2_uc003ibg.4_Missense_Mutation_p.R18G|ANK2_uc003ibc.2_Missense_Mutation_p.R966G|ANK2_uc011cgb.1_Missense_Mutation_p.R1005G	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	990	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CAATGGGCTCCGAATCATTAT	0.473													G	114251469	C	G	114251469	3	3	119	1	0	0	0	0	1	0	0	0	621	644	23	4	3139	4	ANK2	4	114251469	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	769502	114251469	76902807	25	7986											
MYO10	4651	broad.mit.edu	37	chr5	16769271	16769271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagcagcctcgacacttcCcgaacttcctccttgctgaa	9	9	7	16	2	0	1	0	1	0	0	4	3	3	1	4	0	4	3	4	0	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:16769271C>T	uc003jft.4	-	9	1440	c.972G>A	c.(970-972)cgG>cgA	p.R324R	MYO10_uc010itx.3_5'Flank	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	324	Myosin head-like.		R -> W (in dbSNP:rs11750538).		axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCGACACTTCCCGAACTTCCT	0.413													T	16769271	C	T	16769271	2	4	119	1	0	0	0	0	0	0	0	1	10138	610	22	2		2	MYO10	5	16769271	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08		16769271	164145989	26	7987											
TSSK1B	83942	broad.mit.edu	37	chr5	112769636	112769636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcttgtcagagccaggttCgggggtccacaagggttcag	7	10	14	10	1	3	1	2	0	1	1	5	1	4	1	2	4	1	2	2	4	1	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:112769636C>T	uc003kqm.2	-	0	1093	c.901G>A	c.(901-903)Gaa>Aaa	p.E301K	MCC_uc003kql.4_Intron	NM_032028	NP_114417	Q9BXA7	TSSK1_HUMAN	Homo sapiens testis-specific serine kinase 1B (TSSK1B), mRNA.	301					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		GAGCCAGGTTCGGGGGTCCAC	0.622													T	112769636	C	T	112769636	3	4	119	1	0	0	0	0	1	0	0	0	16769	893	31	1	206	1	TSSK1B	5	112769636	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	96000365	112769636	68145624	27	7988											
PCDHGC5	56114	broad.mit.edu	37	chr5	140711854	140711854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaactgaaagtgatggcgCgggacagtggggatccgccc	9	6	16	10	3	0	2	0	2	0	0	1	4	1	4	2	4	2	1	2	4	2	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:140711854C>T	uc003lji.2	+	0	1603	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	PCDHGC5_uc011dan.2_Missense_Mutation_p.R535W	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	537	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGATGGCGCGGGACAGTGG	0.602													T	140711854	C	T	140711854	3	4	119	1	0	0	0	0	1	0	0	0	11647	759	27	1		1	PCDHGC5	5	140711854	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	27942218	140711854	40203406	28	7989											
FBXO38	81545	broad.mit.edu	37	chr5	147782003	147782003	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttcgtaatcgtaatggAgcttttccaattcctcctga	11	15	6	9	2	0	1	0	1	0	0	5	2	3	2	3	1	1	3	3	1	4	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr5:147782003A>G	uc003lpf.1	+	4	639	c.519A>G	c.(517-519)ggA>ggG	p.G173G	FBXO38_uc003lpg.1_Silent_p.G173G|FBXO38_uc003lph.2_Silent_p.G173G	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	173						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCGTAATGGAGCTTTTCCAA	0.363													G	147782003	A	G	147782003	2	3	119	1	0	0	0	0	0	0	0	1	5795	291	11	3		3	FBXO38	5	147782003	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	7070149	147782003	33133257	29	7990											
EXOC2	55770	broad.mit.edu	37	chr6	619481	619481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgctgagaaattctcaCttgtaaaatcagcactcatt	13	12	7	9	0	3	1	3	1	1	1	4	2	3	1	0	1	2	4	0	1	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:619481C>T	uc003mtd.3	-	4	619	c.485G>A	c.(484-486)aGt>aAt	p.S162N	EXOC2_uc003mte.3_Missense_Mutation_p.S162N|EXOC2_uc011dho.2_Intron	NM_018303	NP_060773	Q96KP1	EXOC2_HUMAN	Homo sapiens exocyst complex component 2 (EXOC2), mRNA.	162					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GAAATTCTCACTTGTAAAATC	0.378													T	619481	C	T	619481	3	4	119	1	0	0	0	0	1	0	0	0	5343	565	20	2	2385	2	EXOC2	6	619481	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		619481	170495586	30	7991											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccaagtttcctgtgaCgctgggtcagcccaacaccc	7	11	9	14	1	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	2	3	rs144060347		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:32713607C>T	uc003obx.3	+	2	429	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056	NP_064440	P01906	DQA2_HUMAN	Homo sapiens major histocompatibility complex, class II, DQ alpha 2 (HLA-DQA2), mRNA.	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTGTGACGCTGGGTCAG	0.507													T	32713607	C	T	32713607	3	4	119	1	0	0	0	0	1	0	0	0	7260	536	19	1	381	1	HLA-DQA2	6	32713607	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	32094126	32713607	138401460	31	7992											
BRPF3	27154	broad.mit.edu	37	chr6	36175096	36175096	+	Frame_Shift_Del	DEL	C	C	-																															cttccctcctgtagcgagagCaggatgagaagacaagtgca																										TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:36175096delC	uc003olv.4	+	3	1836	c.1612delC	c.(1612-1614)cagfs	p.Q538fs	BRPF3_uc010jwb.3_Frame_Shift_Del_p.Q538fs|BRPF3_uc011dtj.2_Non-coding_Transcript|BRPF3_uc010jwc.3_Non-coding_Transcript|BRPF3_uc011dtk.2_Frame_Shift_Del_p.Q538fs	NM_015695	NP_056510	Q9ULD4	BRPF3_HUMAN	Homo sapiens bromodomain and PHD finger containing, 3 (BRPF3), mRNA.	538					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						GTAGCGAGAGCAGGATGAGAA	0.547													-	36175096	C	-	36175096	7	5	119	1	0	1	0	1	0	0	0	0	1530	711	25	0	1622	0	BRPF3	6	36175096	Frame_Shift_Del	DEL	C	TCGA-12-3649-01A-01D-1495-08	3461489	36175096	134939971	32	7993											
BMP5	653	broad.mit.edu	37	chr6	55620351	55620351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagtggcagccacatgagcGtactaccatatttctatatt	11	14	7	9	1	1	1	0	1	1	0	1	1	1	1	2	1	4	2	2	1	6	8			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:55620351G>A	uc003pcq.3	-	6	2057	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C	BMP5_uc011dxf.2_Missense_Mutation_p.R412C	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	449					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity	p.R449H(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCACATGAGCGTACTACCATA	0.328													A	55620351	G	A	55620351	3	1	119	1	0	0	0	0	1	0	0	0	1469	1145	40	1	23	1	BMP5	6	55620351	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	19445255	55620351	115494716	33	7994											
GRIK2	2898	broad.mit.edu	37	chr6	102483322	102483322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatccagcgagtcctcacctCtgattatgctttcctaatgg	9	13	7	12	1	2	1	1	1	1	0	5	2	5	1	4	1	2	1	4	1	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr6:102483322C>G	uc003pqp.4	+	13	2485	c.2192C>G	c.(2191-2193)tCt>tGt	p.S731C	GRIK2_uc010kcw.3_Missense_Mutation_p.S731C|GRIK2_uc003pqo.4_Missense_Mutation_p.S731C|GRIK2_uc021zdk.1_Missense_Mutation_p.S544C|GRIK2_uc021zdl.1_Non-coding_Transcript	NM_021956	NP_068775	Q13002	GRIK2_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 2 (GRIK2), transcript variant 1, mRNA.	731					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTCCTCACCTCTGATTATGCT	0.443													G	102483322	C	G	102483322	3	3	119	1	0	0	0	0	1	0	0	0	6829	913	32	4	2246	4	GRIK2	6	102483322	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	46862971	102483322	68631745	34	7995											
PCLO	27445	broad.mit.edu	37	chr7	82508670	82508670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttccataagcttccccGtctgttccgcacttccccca	6	12	4	19	2	1	0	0	0	1	0	5	0	5	0	7	0	2	3	7	0	2	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr7:82508670G>A	uc003uhx.2	-	9	13926	c.13637C>T	c.(13636-13638)aCg>aTg	p.T4546M	PCLO_uc003uhv.2_Missense_Mutation_p.T4546M|PCLO_uc003uht.1_5'UTR|PCLO_uc003uhu.1_5'UTR	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4440					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T4546M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AAGCTTCCCCGTCTGTTCCGC	0.358													A	82508670	G	A	82508670	3	1	119	1	0	0	0	0	1	0	0	0	11659	1145	40	1	1872	1	PCLO	7	82508670	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		82508670	76629993	35	7996											
CSMD1	64478	broad.mit.edu	37	chr8	4277522	4277522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacagcgaagtctgtcGtgaaccacagagtgaggata	13	7	11	10	2	2	3	1	2	1	1	3	5	2	4	1	1	2	0	1	1	3	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:4277522G>A	uc022aqr.1	-	2	758	c.368C>T	c.(367-369)aCg>aTg	p.T123M		NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	123	CUB 1.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GAAGTCTGTCGTGAACCACAG	0.403													A	4277522	G	A	4277522	3	1	119	1	0	0	0	0	1	0	0	0	3977	1145	40	1	10411	1	CSMD1	8	4277522	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		4277522	142086500	36	7997											
ADAM7	8756	broad.mit.edu	37	chr8	24357714	24357714	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggccacggactccagtgCcactgtgaggaaggacaggc	10	5	15	11	1	0	1	0	1	0	0	1	5	1	4	3	5	1	0	3	5	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:24357714C>A	uc003xeb.3	+	17	2060	c.1947C>A	c.(1945-1947)tgC>tgA	p.C649*	ADAM7_uc003xec.3_Nonsense_Mutation_p.C421*	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	649	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		gaCTCCAGTGCCACTGTGAGG	0.433													A	24357714	C	A	24357714	4	1	119	1	0	0	0	0	0	1	0	0	251	747	26	4	2017	4	ADAM7	8	24357714	Nonsense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	20080192	24357714	122006308	37	7998											
XKR9	389668	broad.mit.edu	37	chr8	71646034	71646034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttttgttttgtagatgCggccatcatggtctcttgct	5	20	9	7	1	2	1	1	0	1	1	3	1	2	1	1	2	2	3	1	2	1	7	rs140711820		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr8:71646034C>T	uc003xyq.3	+	4	1031	c.497C>T	c.(496-498)gCg>gTg	p.A166V	XKR9_uc010lzd.3_Missense_Mutation_p.A34V|XKR9_uc010lze.3_Missense_Mutation_p.A166V	NM_001011720	NP_001011720	Q5GH70	XKR9_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 9 (XKR9), mRNA.	166						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TTTGTAGATGCGGCCATCATG	0.308													T	71646034	C	T	71646034	3	4	119	1	0	0	0	0	1	0	0	0	17540	768	27	1	507	1	XKR9	8	71646034	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	47288320	71646034	74717988	38	7999											
GLIS3	169792	broad.mit.edu	37	chr9	4117963	4117963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtacagggcgctgcagtcGatccagcggcagcaatgctt	8	8	13	12	4	0	0	0	0	0	0	3	1	1	0	1	2	5	6	1	2	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:4117963G>A	uc003zhx.1	-	3	2228	c.1515C>T	c.(1513-1515)atC>atT	p.I505I	GLIS3_uc003zic.1_Silent_p.I505I|GLIS3_uc003zie.1_Silent_p.I505I|GLIS3_uc010mhh.1_Silent_p.I380I|GLIS3_uc003zid.1_Silent_p.I283I|GLIS3_uc010mhi.1_Silent_p.I312I|GLIS3_uc003zif.1_Silent_p.I283I|GLIS3_uc003zih.1_Silent_p.I283I|GLIS3_uc003zig.1_Silent_p.I349I|GLIS3_uc003zhw.1_Silent_p.I350I|GLIS3_uc003zhy.1_Silent_p.I283I|GLIS3_uc003zhz.1_Silent_p.I283I|GLIS3_uc003zib.1_Silent_p.I349I|GLIS3_uc010mhg.1_Silent_p.I283I	NM_001042413	NP_001035878	Q8NEA6	GLIS3_HUMAN	Homo sapiens GLIS family zinc finger 3 (GLIS3), transcript variant 1, mRNA.	350					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CGCTGCAGTCGATCCAGCGGC	0.667													A	4117963	G	A	4117963	2	1	119	1	0	0	0	0	0	0	0	1	6503	1048	37	1		1	GLIS3	9	4117963	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08		4117963	137095468	39	8000											
TESK1	7016	broad.mit.edu	37	chr9	35609198	35609198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccccgagctcccccgccGtatggagacagcactgccag	8	5	10	18	3	0	1	0	0	0	1	2	3	2	1	6	1	3	3	6	1	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:35609198G>A	uc003zxa.3	+	9	1676	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	TESK1_uc010mks.3_Missense_Mutation_p.R287H	NM_006285	NP_006276	Q15569	TESK1_HUMAN	Homo sapiens testis-specific kinase 1 (TESK1), mRNA.	447					cell junction assembly|spermatogenesis	cytosol	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	27			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTCCCCCGCCGTATGGAGACA	0.687													A	35609198	G	A	35609198	3	1	119	1	0	0	0	0	1	0	0	0	15867	1145	40	1	1378	1	TESK1	9	35609198	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	31491235	35609198	105604233	40	8001											
FBP2	8789	broad.mit.edu	37	chr9	97333806	97333806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccagggttgcactacCgtacagcgcataacctgcgg	10	6	11	14	3	0	0	0	0	0	0	0	0	0	0	4	2	7	4	4	2	3	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:97333806C>T	uc004auv.3	-	3	572	c.505G>A	c.(505-507)Ggt>Agt	p.G169S		NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	169					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				GTTGCACTACCGTACAGCGCA	0.552													T	97333806	C	T	97333806	3	4	119	1	0	0	0	0	1	0	0	0	5755	652	23	1	530	1	FBP2	9	97333806	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	61724608	97333806	43879625	41	8002											
USP20	10868	broad.mit.edu	37	chr9	132638480	132638480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggagatcgaggcactggCcaagcgcaggaggatcgaga	11	4	18	8	3	0	2	0	0	0	2	2	7	0	4	1	6	1	2	1	6	1	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr9:132638480C>T	uc004bys.2	+	21	2583	c.2372C>T	c.(2371-2373)gCc>gTc	p.A791V	USP20_uc004byr.2_Missense_Mutation_p.A791V|USP20_uc004byt.1_Missense_Mutation_p.A791V	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	791	DUSP 2.				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GAGGCACTGGCCAAGCGCAGG	0.677													T	132638480	C	T	132638480	3	4	119	1	0	0	0	0	1	0	0	0	17154	739	26	2	2450	2	USP20	9	132638480	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	35304674	132638480	8574951	42	8003											
CUBN	8029	broad.mit.edu	37	chr10	17146591	17146591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcacacttacaaaaataaCcagagacagtgtcctaaggg	17	7	8	9	0	1	1	1	0	0	1	2	2	2	1	2	1	2	0	2	1	5	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:17146591C>T	uc001ioo.3	-	11	1296	c.1244G>A	c.(1243-1245)gGt>gAt	p.G415D		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	415	EGF-like 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G415G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAAAAATAACCAGAGACAGT	0.373													T	17146591	C	T	17146591	3	4	119	1	0	0	0	0	1	0	0	0	4084	507	18	2	9851	2	CUBN	10	17146591	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		17146591	118388156	43	8004											
TMEM26	219623	broad.mit.edu	37	chr10	63170497	63170497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacacagggcacacaacGttctgtactgaaaacacaag	17	5	8	11	1	1	2	0	1	1	1	1	2	1	2	0	1	3	3	0	1	5	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:63170497G>T	uc001jlo.2	-	5	1059	c.690C>A	c.(688-690)aaC>aaA	p.N230K	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	230						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GGCACACAACGTTCTGTACTG	0.473													T	63170497	G	T	63170497	3	4	119	1	0	0	0	0	1	0	0	0	16251	1136	40	4	420	4	TMEM26	10	63170497	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	46023906	63170497	72364250	44	8005											
PTEN	5728	broad.mit.edu	37	chr10	89725042	89725042	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttaaattttctttctctAggtgaagctgtacttcacaa	11	18	5	7	0	3	1	1	1	2	0	4	1	3	1	0	1	2	2	0	1	6	8			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr10:89725042A>G	uc001kfb.3	+	9	2059	c.1027_splice	c.e9-2	p.V343_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	343	C2 tensin-type.		V -> E (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTCTTTCTCTAGGTGAAGCTG	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89725042	A	G	89725042	5	3	119	1	0	0	0	0	0	0	1	0	12823	434	15	3	1059	3	PTEN	10	89725042	Splice_Site	SNP	A	TCGA-12-3649-01A-01D-1495-08	26554545	89725042	45809705	45	8006											
CHRNA10	57053	broad.mit.edu	37	chr11	3687643	3687643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccctctttcccgcacGcacaggccccgtgccaggtg	4	7	11	19	3	1	0	0	0	1	0	3	0	3	0	6	3	1	3	6	3	0	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:3687643G>A	uc001lyf.3	-	4	1119	c.1047C>T	c.(1045-1047)tgC>tgT	p.C349C	CHRNA10_uc010qxt.2_Silent_p.C143C|CHRNA10_uc010qxu.2_Silent_p.C143C	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	349					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	TTTCCCGCACGCACAGGCCCC	0.667													A	3687643	G	A	3687643	2	1	119	1	0	0	0	0	0	0	0	1	3412	1079	38	1		1	CHRNA10	11	3687643	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08		3687643	131318873	46	8007											
OR52I2	143502	broad.mit.edu	37	chr11	4608268	4608268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggaaacaccatcatcGtgactgcaatctggatggat	12	11	10	8	1	2	1	1	1	1	0	3	4	2	4	1	3	2	2	1	3	3	1	rs138555035		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4608268G>A	uc010qyh.2	+	0	248	c.226G>A	c.(226-228)Gtg>Atg	p.V76M		NM_001005170	NP_001005170	Q8NH67	O52I2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 2 (OR52I2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCATCATCGTGACTGCAAT	0.507													A	4608268	G	A	4608268	3	1	119	1	0	0	0	0	1	0	0	0	11197	1145	40	1	228	1	OR52I2	11	4608268	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	920625	4608268	130398248	47	8008											
OR52I1	390037	broad.mit.edu	37	chr11	4615416	4615416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggaaacaccctcatcGtgactgcaatctggatggat	11	11	10	9	1	2	1	1	1	1	0	3	4	2	4	1	3	2	2	1	3	3	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:4615416G>A	uc010qyi.2	+	0	148	c.148G>A	c.(148-150)Gtg>Atg	p.V50M		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CACCCTCATCGTGACTGCAAT	0.517													A	4615416	G	A	4615416	3	1	119	1	0	0	0	0	1	0	0	0	11196	1145	40	1	150	1	OR52I1	11	4615416	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	7148	4615416	130391100	48	8009											
OR52H1	390067	broad.mit.edu	37	chr11	5566723	5566723	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtaactgctcaggtTgaaaatgatcatggcagagg	12	11	13	5	0	2	3	2	2	0	1	2	4	2	4	0	4	2	4	0	4	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5566723T>G	uc010qzh.2	-	0	31	c.31A>C	c.(31-33)Aac>Cac	p.N11H	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGCTCAGGTTGAAAATGATC	0.443													G	5566723	T	G	5566723	3	3	119	1	0	0	0	0	1	0	0	0	11195	1812	63	5	934	5	OR52H1	11	5566723	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	951307	5566723	129439793	49	8010											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5626645	5626645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctagacagagtggagcaaCgggagctgaaaaagctggaa	15	5	14	7	1	0	3	0	1	0	2	1	6	1	6	1	3	4	3	1	3	5	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5626645C>T	uc001mbf.3	+	3	945	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.R174W|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.R200W|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.R228W|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.R25W|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.R25W	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	228						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AGTGGAGCAACGGGAGCTGAA	0.488											OREG0003723	type=REGULATORY REGION|Gene=TRIM6|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	5626645	C	T	5626645	3	4	119	1	0	0	0	0	1	0	0	0	16635	527	19	1	696	1	TRIM6-TRIM34	11	5626645	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	59922	5626645	129379871	50	8011											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5631406	5631406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccctgaggaagccagaaGctctccctacaaagctgaga	13	5	11	12	0	1	3	0	2	1	2	2	6	1	5	3	2	4	2	3	2	4	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:5631406G>A	uc001mbf.3	+	5	1152	c.889G>A	c.(889-891)Gct>Act	p.A297T	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.A243T|TRIM6-TRIM34_uc010qzj.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.A269T|TRIM6-TRIM34_uc001mbe.3_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.A297T|TRIM6-TRIM34_uc010qzk.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc010qzl.2_Missense_Mutation_p.A94T|TRIM6-TRIM34_uc009yep.1_Missense_Mutation_p.A94T	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	297						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GAAGCCAGAAGCTCTCCCTAC	0.517													A	5631406	G	A	5631406	3	1	119	1	0	0	0	0	1	0	0	0	16635	971	34	2	911	2	TRIM6-TRIM34	11	5631406	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	4761	5631406	129375110	51	8012											
MTNR1B	4544	broad.mit.edu	37	chr11	92714701	92714701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggccatcttctatgaCggctgggccctgggggagga	5	9	16	11	2	2	1	0	1	2	0	3	3	2	3	2	6	0	1	2	6	1	2	rs139515067		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:92714701C>T	uc001pdk.1	+	1	415	c.312C>T	c.(310-312)gaC>gaT	p.D104D		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	104					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity	p.D104D(4)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	TCTTCTATGACGGCTGGGCCC	0.567													T	92714701	C	T	92714701	2	4	119	1	0	0	0	0	0	0	0	1	10028	535	19	1		1	MTNR1B	11	92714701	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	87083295	92714701	42291815	52	8013											
OR8A1	390275	broad.mit.edu	37	chr11	124440668	124440668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagttcttgtttcttacaCcttcattctctccagcatcc	8	16	3	14	0	4	0	1	0	3	0	7	0	6	0	3	0	3	3	3	0	2	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr11:124440668C>A	uc010san.2	+	0	704	c.704C>A	c.(703-705)aCc>aAc	p.T235N		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GTTTCTTACACCTTCATTCTC	0.493													A	124440668	C	A	124440668	3	1	119	1	0	0	0	0	1	0	0	0	11301	507	18	4	706	4	OR8A1	11	124440668	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	31725967	124440668	10565848	53	8014											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436597	19436597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagggatactcccctcaacGaacttacagatcggaagtgt	12	9	9	11	2	2	1	2	0	0	1	4	4	3	3	2	2	4	0	2	2	5	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:19436597G>A	uc001reb.3	+	10	1787	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	PLEKHA5_uc010sie.2_Missense_Mutation_p.R566Q|PLEKHA5_uc001rea.3_Missense_Mutation_p.R560Q|PLEKHA5_uc009zin.3_Missense_Mutation_p.R318Q|PLEKHA5_uc010sig.2_Missense_Mutation_p.R452Q|PLEKHA5_uc010sih.1_Missense_Mutation_p.R452Q|PLEKHA5_uc021qvy.1_Missense_Mutation_p.R452Q|PLEKHA5_uc001rec.1_Missense_Mutation_p.R248Q	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	560							1-phosphatidylinositol binding|protein binding	p.Q559K(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TCCCCTCAACGAACTTACAGA	0.468													A	19436597	G	A	19436597	3	1	119	1	0	0	0	0	1	0	0	0	12136	1058	37	1	1721	1	PLEKHA5	12	19436597	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		19436597	114415298	54	8015											
ZFC3H1	196441	broad.mit.edu	37	chr12	72030416	72030416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactggaggtgaaggtgggtCactattactggatgtttcct	9	13	13	6	0	1	1	1	1	0	0	2	3	2	3	1	5	2	1	1	5	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:72030416C>G	uc001swo.2	-	8	2313	c.1954G>C	c.(1954-1956)Gac>Cac	p.D652H		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	652					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GAAGGTGGGTCACTATTACTG	0.363													G	72030416	C	G	72030416	3	3	119	1	0	0	0	0	1	0	0	0	17734	826	29	4	4123	4	ZFC3H1	12	72030416	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	52593819	72030416	61821479	55	8016											
C12orf50	160419	broad.mit.edu	37	chr12	88388465	88388466	+	Frame_Shift_Del	DEL	TA	TA	-																															ttcccatgcaatgatgttttTatttcaccttgcctttcata																										TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:88388465_88388466delTA	uc001tam.1	-	6	704_705	c.536_537delTA	c.(535-537)atafs	p.I179fs	C12orf50_uc001tan.3_Frame_Shift_Del_p.I233fs	NM_152589	NP_689802	Q8NA57	CL050_HUMAN	Homo sapiens chromosome 12 open reading frame 50 (C12orf50), mRNA.	179										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						ATGATGTTTTTATTTCACCTTG	0.347													-	88388466	TA	-	88388465	7	5	119	1	0	1	0	1	0	0	0	0	1708	1744	61	0	735	0	C12orf50	12	88388465	Frame_Shift_Del	DEL	TA	TCGA-12-3649-01A-01D-1495-08	16358049	88388465	45463430	56	8017											
CCDC60	160777	broad.mit.edu	37	chr12	119966451	119966451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggtatccagaagttcCgtgcttttgtccttgtctca	8	14	10	9	1	1	2	1	0	1	2	5	3	4	2	3	1	1	3	3	1	2	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:119966451C>T	uc001txe.3	+	11	1726	c.1261C>T	c.(1261-1263)Cgt>Tgt	p.R421C	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	421										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CCAGAAGTTCCGTGCTTTTGT	0.428													T	119966451	C	T	119966451	3	4	119	1	0	0	0	0	1	0	0	0	2859	652	23	1	1307	1	CCDC60	12	119966451	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	31577986	119966451	13885444	57	8018											
GCN1L1	10985	broad.mit.edu	37	chr12	120599767	120599767	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtcaccaggcgcagtgcAgggttctgcacggaggcagt	7	6	16	12	4	2	0	1	0	1	0	2	1	2	1	1	4	2	5	1	4	0	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr12:120599767A>T	uc001txo.3	-	20	2272	c.2259T>A	c.(2257-2259)ccT>ccA	p.P753P		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	753					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCGCAGTGCAGGGTTCTGCA	0.592													T	120599767	A	T	120599767	2	4	119	1	0	0	0	0	0	0	0	1	6353	175	7	5		5	GCN1L1	12	120599767	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	633316	120599767	13252128	58	8019											
TUBA3C	7278	broad.mit.edu	37	chr13	19751200	19751200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatgtacttgccgtggCgagggtcacacttgaccatc	8	9	12	12	2	1	1	1	1	0	0	2	2	1	1	3	3	2	1	3	3	1	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:19751200C>T	uc009zzj.3	-	3	1028	c.923G>A	c.(922-924)cGc>cAc	p.R308H		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	308					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTTGCCGTGGCGAGGGTCACA	0.587													T	19751200	C	T	19751200	3	4	119	1	0	0	0	0	1	0	0	0	16848	768	27	1	437	1	TUBA3C	13	19751200	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		19751200	95418678	59	8020											
KLHL1	57626	broad.mit.edu	37	chr13	70681808	70681808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtgcttcacatcgaaGtcttttcgcccagagcctga	10	11	9	11	2	2	3	1	1	1	2	4	4	2	3	2	0	2	1	2	0	2	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:70681808G>T	uc001vip.3	-	0	818	c.24C>A	c.(22-24)gaC>gaA	p.D8E	KLHL1_uc010thm.2_Missense_Mutation_p.D8E|ATXN8OS_uc010aej.1_Non-coding_Transcript	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	8					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		TCACATCGAAGTCTTTTCGCC	0.632													T	70681808	G	T	70681808	3	4	119	1	0	0	0	0	1	0	0	0	8423	1020	36	4	2266	4	KLHL1	13	70681808	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	50930608	70681808	44488070	60	8021											
CLN5	1203	broad.mit.edu	37	chr13	77570066	77570066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgccattggattcagAagtacattaactggcaagaa	15	10	9	7	0	1	3	1	1	0	2	1	4	1	4	1	2	3	2	1	2	5	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr13:77570066A>G	uc001vkc.3	+	2	544	c.516A>G	c.(514-516)agA>agG	p.R172R		NM_006493	NP_006484	O75503	CLN5_HUMAN	Homo sapiens ceroid-lipofuscinosis, neuronal 5 (CLN5), mRNA.	123					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGGATTCAGAAGTACATTAA	0.413													G	77570066	A	G	77570066	2	3	119	1	0	0	0	0	0	0	0	1	3575	243	9	3		3	CLN5	13	77570066	Silent	SNP	A	TCGA-12-3649-01A-01D-1495-08	6888258	77570066	37599812	61	8022											
SUPT16H	11198	broad.mit.edu	37	chr14	21822688	21822688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccttctgtgtatttcAggtcgcaggaactaagagaa	11	12	10	8	1	2	1	1	0	1	1	4	3	3	2	1	2	2	3	1	2	5	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:21822688A>G	uc001wao.2	-	22	3011	c.2672T>C	c.(2671-2673)cTg>cCg	p.L891P	SUPT16H_uc001wan.2_Missense_Mutation_p.L35P	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	891					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TGTGTATTTCAGGTCGCAGGA	0.403													G	21822688	A	G	21822688	3	3	119	1	0	0	0	0	1	0	0	0	15492	188	7	3	487	3	SUPT16H	14	21822688	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08		21822688	85526852	62	8023											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055814	72055814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggagatgataaaagcaatGagcttgtaatgagctgtcca	15	9	12	5	0	0	4	0	3	0	1	1	5	1	4	1	1	3	4	1	1	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:72055814G>A	uc001xms.3	+	1	1586	c.1225G>A	c.(1225-1227)Gag>Aag	p.E409K	SIPA1L1_uc001xmt.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmu.3_Missense_Mutation_p.E409K|SIPA1L1_uc001xmv.3_Missense_Mutation_p.E409K	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	409					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		TAAAAGCAATGAGCTTGTAAT	0.458													A	72055814	G	A	72055814	3	1	119	1	0	0	0	0	1	0	0	0	14423	1291	45	2	1227	2	SIPA1L1	14	72055814	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	50233126	72055814	35293726	63	8024											
CALM1	801	broad.mit.edu	37	chr14	90870850	90870850	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatggagacggacaagtcaActatgaaggtaaaactaaat	18	8	10	5	1	1	3	1	2	0	1	1	5	1	4	0	3	2	1	0	3	8	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:90870850A>G	uc001xyl.2	+	4	661	c.413A>G	c.(412-414)aAc>aGc	p.N138S	CALM1_uc010atq.2_Missense_Mutation_p.N139S|CALM1_uc001xym.2_Missense_Mutation_p.N102S	NM_006888	NP_005175	P62158	CALM_HUMAN	Homo sapiens calmodulin 1 (phosphorylase kinase, delta) (CALM1), transcript variant 1, mRNA.	138	EF-hand 4.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	10		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.208)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GGACAAGTCAACTATGAAGGT	0.383													G	90870850	A	G	90870850	3	3	119	1	0	0	0	0	1	0	0	0	2610	43	2	3	431	3	CALM1	14	90870850	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	18815036	90870850	16478690	64	8025											
PPP4R4	57718	broad.mit.edu	37	chr14	94700063	94700063	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagttagttgtaaaatttTaggaaaattgaccaacaaat	17	15	6	3	0	0	1	0	1	0	0	0	2	0	2	1	1	1	3	1	1	9	8			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94700063T>A	uc001ycs.1	+	5	744	c.590T>A	c.(589-591)tTa>tAa	p.L197*		NM_058237	NP_478144	Q6NUP7	PP4R4_HUMAN	Homo sapiens protein phosphatase 4, regulatory subunit 4 (PPP4R4), transcript variant 1, mRNA.	197						cytoplasm|protein serine/threonine phosphatase complex	protein binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						TGTAAAATTTTAGGAAAATTG	0.308													A	94700063	T	A	94700063	4	1	119	1	0	0	0	0	0	1	0	0	12487	1764	61	5	685	5	PPP4R4	14	94700063	Nonsense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	3829213	94700063	12649477	65	8026											
SERPINA11	256394	broad.mit.edu	37	chr14	94909543	94909543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagaaattgaaaaccttgGcaagtgcaaatccaacagac	17	7	7	10	0	0	3	0	1	0	2	2	3	2	3	3	1	3	2	3	1	6	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:94909543G>A	uc001ydd.1	-	3	997	c.937C>T	c.(937-939)Cca>Tca	p.P313S		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	313					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GAAAACCTTGGCAAGTGCAAA	0.458													A	94909543	G	A	94909543	3	1	119	1	0	0	0	0	1	0	0	0	14181	1203	42	2	339	2	SERPINA11	14	94909543	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	209480	94909543	12439997	66	8027											
JAG2	3714	broad.mit.edu	37	chr14	105612833	105612833	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaggatctcccgaacccGatcactgtggggagaagggg	10	5	15	11	2	2	1	1	0	1	1	3	5	2	2	2	5	2	1	2	5	2	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105612833G>A	uc001yqg.3	-	21	3002	c.2598C>T	c.(2596-2598)atC>atT	p.I866I	JAG2_uc001yqf.3_Silent_p.I270I|JAG2_uc001yqh.3_Silent_p.I828I	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	866					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TCCCGAACCCGATCACTGTGG	0.682													A	105612833	G	A	105612833	2	1	119	1	0	0	0	0	0	0	0	1	7993	1048	37	1		1	JAG2	14	105612833	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	10703290	105612833	1736707	67	8028											
JAG2	3714	broad.mit.edu	37	chr14	105618019	105618019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggcattcgaagccggacGgcacctcatggcaagagccc	10	5	13	13	3	1	1	1	0	0	1	2	3	1	2	3	4	2	3	3	4	2	1	rs140813175		TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr14:105618019G>A	uc001yqg.3	-	7	1501	c.1097C>T	c.(1096-1098)cCg>cTg	p.P366L	JAG2_uc001yqf.3_5'Flank|JAG2_uc001yqh.3_Missense_Mutation_p.P366L	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	366	EGF-like 4.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GAAGCCGGACGGCACCTCATG	0.667													A	105618019	G	A	105618019	3	1	119	1	0	0	0	0	1	0	0	0	7993	1116	39	1	2695	1	JAG2	14	105618019	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	5186	105618019	1731521	68	8029											
SLC27A2	11001	broad.mit.edu	37	chr15	50494831	50494831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgattggcattcacggatGtattgtggctggtaagcttt	8	15	12	6	1	1	1	1	1	0	0	1	2	1	2	0	4	1	5	0	4	2	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:50494831G>A	uc001zxw.3	+	2	1068	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	SLC27A2_uc010bes.3_Intron|SLC27A2_uc001zxx.3_Missense_Mutation_p.C44Y	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	279					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		ATTCACGGATGTATTGTGGCT	0.428													A	50494831	G	A	50494831	3	1	119	1	0	0	0	0	1	0	0	0	14620	1377	48	2	846	2	SLC27A2	15	50494831	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		50494831	52036561	69	8030											
BLM	641	broad.mit.edu	37	chr15	91312761	91312761	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctcttacggccacagctAatcccagggtacagaaggac	11	7	11	12	1	1	1	0	0	1	1	2	2	2	2	2	4	3	3	2	4	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr15:91312761A>T	uc002bpr.3	+	11	2597	c.2500A>T	c.(2500-2502)Aat>Tat	p.N834Y	BLM_uc010uqh.2_Missense_Mutation_p.N834Y|BLM_uc010uqi.2_Missense_Mutation_p.N459Y|BLM_uc010bnx.3_Missense_Mutation_p.N834Y	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	834	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GGCCACAGCTAATCCCAGGGT	0.478			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				T	91312761	A	T	91312761	3	4	119	1	0	0	0	0	1	0	0	0	1451	362	13	5	2542	5	BLM	15	91312761	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	40817930	91312761	11218631	70	8031											
CDH16	1014	broad.mit.edu	37	chr16	66950022	66950022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatggcttgagagaaatgggGcacctggtcattctcatcct	9	11	12	9	0	2	2	2	1	1	1	4	4	3	2	2	4	0	2	2	4	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:66950022G>T	uc002eql.3	-	4	564	c.370C>A	c.(370-372)Ccc>Acc	p.P124T	CDH16_uc010cdy.3_Missense_Mutation_p.P124T|CDH16_uc021tjx.1_Missense_Mutation_p.P124T|CDH16_uc002eqm.3_Intron	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	124	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GAGAAATGGGGCACCTGGTCA	0.582													T	66950022	G	T	66950022	3	4	119	1	0	0	0	0	1	0	0	0	3131	1203	42	4	2175	4	CDH16	16	66950022	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		66950022	23404731	71	8032											
PHLPP2	23035	broad.mit.edu	37	chr16	71724459	71724459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaatgtgcatctttccaGtttgacaatccttcactgag	11	13	7	10	0	2	2	1	2	1	0	4	2	4	2	2	0	1	3	2	0	3	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr16:71724459G>C	uc002fax.3	-	2	578	c.572C>G	c.(571-573)aCt>aGt	p.T191S	PHLPP2_uc010cgf.3_Missense_Mutation_p.T191S|PHLPP2_uc002fay.1_Missense_Mutation_p.T191S|TRNA_Gln_uc021tkw.1_5'Flank	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	191	PH.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CATCTTTCCAGTTTGACAATC	0.408													C	71724459	G	C	71724459	3	2	119	1	0	0	0	0	1	0	0	0	11932	1029	36	4	3463	4	PHLPP2	16	71724459	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	4774437	71724459	18630294	72	8033											
MYH3	4621	broad.mit.edu	37	chr17	10533648	10533648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttcccgcccttcagcGccagctgctcggcctcatct	3	11	8	19	3	4	0	2	0	2	0	6	0	5	0	4	1	3	3	4	1	0	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:10533648G>A	uc002gmq.2	-	36	5502	c.5414C>T	c.(5413-5415)gCg>gTg	p.A1805V		NM_002470	NP_002461	P11055	MYH3_HUMAN	Homo sapiens myosin, heavy chain 3, skeletal muscle, embryonic (MYH3), mRNA.	1805					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCCCTTCAGCGCCAGCTGCTC	0.607													A	10533648	G	A	10533648	3	1	119	1	0	0	0	0	1	0	0	0	10112	1087	38	1	428	1	MYH3	17	10533648	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		10533648	70661562	73	8034											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939203	27939203	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtggcccccatcatTgacctcatggccgtcagcaa	9	7	11	14	1	3	1	3	1	0	0	3	2	3	1	4	3	2	2	4	3	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr17:27939203T>A	uc002hei.3	+	10	1283	c.1170T>A	c.(1168-1170)atT>atA	p.I390I	ANKRD13B_uc002heh.3_Silent_p.I258I|ANKRD13B_uc002hej.3_Non-coding_Transcript	NM_152345	NP_689558	Q86YJ7	AN13B_HUMAN	Homo sapiens ankyrin repeat domain 13B (ANKRD13B), mRNA.	390										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CCCCCATCATTGACCTCATGG	0.597													A	27939203	T	A	27939203	2	1	119	1	0	0	0	0	0	0	0	1	642	1800	63	5		5	ANKRD13B	17	27939203	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	17405555	27939203	53256007	74	8035											
MEP1B	4225	broad.mit.edu	37	chr18	29787380	29787380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggatgtgatcggccaacGaatggatttcagtgactctg	10	11	13	7	2	2	3	1	3	1	0	3	6	2	5	1	3	1	0	1	3	2	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:29787380G>A	uc002kxj.4	+	7	760	c.713G>A	c.(712-714)cGa>cAa	p.R238Q		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	238	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCGGCCAACGAATGGATTTC	0.388													A	29787380	G	A	29787380	3	1	119	1	0	0	0	0	1	0	0	0	9551	1058	37	1	743	1	MEP1B	18	29787380	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08		29787380	48289868	75	8036											
CBLN2	147381	broad.mit.edu	37	chr18	70209243	70209243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggctccgtgtcgttctgCgcccgcacggggcagcaggc	4	7	16	14	5	1	0	0	0	1	0	3	0	2	0	2	4	2	5	2	4	0	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr18:70209243C>T	uc002lku.2	-	1	388	c.153G>A	c.(151-153)gcG>gcA	p.A51A	CBLN2_uc002lkv.2_Silent_p.A51A	NM_182511	NP_872317	Q8IUK8	CBLN2_HUMAN	Homo sapiens cerebellin 2 precursor (CBLN2), mRNA.	51						integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				TGTCGTTCTGCGCCCGCACGG	0.741													T	70209243	C	T	70209243	2	4	119	1	0	0	0	0	0	0	0	1	2731	755	27	1		1	CBLN2	18	70209243	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	40421863	70209243	7868005	76	8037											
C19orf21	126353	broad.mit.edu	37	chr19	758162	758162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccggccccagatgccCgtgcggccgacccagctcca	6	4	11	20	4	1	1	1	0	0	1	2	2	2	1	7	2	4	1	7	2	0	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:758162C>T	uc002lpo.3	+	1	1299	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	406										breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		CCCAGATGCCCGTGCGGCCGA	0.682													T	758162	C	T	758162	3	4	119	1	0	0	0	0	1	0	0	0	1932	652	23	1	1218	1	C19orf21	19	758162	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		758162	58370821	77	8038											
GADD45B	4616	broad.mit.edu	37	chr19	2477591	2477591	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcccctacatctctcttcagGaacgctgaggcccttcccag	7	10	7	17	1	3	1	1	1	2	0	6	2	5	2	4	2	2	1	4	2	2	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:2477591G>C	uc002lwb.2	+	3	709	c.475G>C	c.(475-477)Gaa>Caa	p.E159Q		NM_015675	NP_056490	O75293	GA45B_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, beta (GADD45B), mRNA.	159					activation of MAPKKK activity|apoptosis|cell differentiation|multicellular organismal development|response to stress					cervix(2)|lung(1)|ovary(1)	4		Hepatocellular(1079;0.137)		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)		CTCTCTTCAGGAACGCTGAGG	0.562													C	2477591	G	C	2477591	3	2	119	1	0	0	0	0	1	0	0	0	6234	1175	41	4	489	4	GADD45B	19	2477591	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	1719429	2477591	56651392	78	8039											
CPAMD8	27151	broad.mit.edu	37	chr19	17086956	17086956	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgctgaatacgtcacTgaaaccttggcgcaaatgca	12	11	8	10	2	2	2	2	2	0	0	2	2	2	2	1	1	4	3	1	1	4	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17086956T>C	uc002nfb.3	-	15	1937	c.1905A>G	c.(1903-1905)tcA>tcG	p.S635S		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	588						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AATACGTCACTGAAACCTTGG	0.557													C	17086956	T	C	17086956	2	2	119	1	0	0	0	0	0	0	0	1	3826	1567	55	3		3	CPAMD8	19	17086956	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	14609365	17086956	42042027	79	8040											
B3GNT3	10331	broad.mit.edu	37	chr19	17918748	17918748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagccaccggcgatcccCgaggccctggcctggcccac	6	3	13	19	3	0	0	0	0	0	0	1	3	1	0	7	4	2	1	7	4	0	0	rs79614823	byFrequency	TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:17918748C>T	uc002nhl.1	+	1	279	c.132C>T	c.(130-132)ccC>ccT	p.P44P	B3GNT3_uc010ebd.1_Silent_p.P44P|B3GNT3_uc010ebe.1_Silent_p.P44P	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	44					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						CGGCGATCCCCGAGGCCCTGG	0.687													T	17918748	C	T	17918748	2	4	119	1	0	0	0	0	0	0	0	1	1263	639	23	1		1	B3GNT3	19	17918748	Silent	SNP	C	TCGA-12-3649-01A-01D-1495-08	831792	17918748	41210235	80	8041											
ZNF493	284443	broad.mit.edu	37	chr19	21606457	21606457	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggcaaagcctttagtatTttctcaacccctactaaaca	12	13	5	11	0	1	0	1	0	1	0	2	0	1	0	3	1	4	2	3	1	7	7			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:21606457T>C	uc002npw.3	+	3	1115	c.996T>C	c.(994-996)atT>atC	p.I332I	ZNF493_uc002npx.3_Silent_p.I204I|ZNF493_uc002npy.3_Silent_p.I204I|ZNF493_uc021urq.1_Silent_p.I204I	NM_001076678	NP_787106	Q6ZR52	ZN493_HUMAN	Homo sapiens zinc finger protein 493 (ZNF493), transcript variant 3, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						CCTTTAGTATTTTCTCAACCC	0.348													C	21606457	T	C	21606457	2	2	119	1	0	0	0	0	0	0	0	1	18045	1829	64	3		3	ZNF493	19	21606457	Silent	SNP	T	TCGA-12-3649-01A-01D-1495-08	3687709	21606457	37522526	81	8042											
LSR	51599	broad.mit.edu	37	chr19	35757850	35757850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttctcgacctggcccccCcagtggccgtgtggagcggg	3	7	14	17	3	1	0	0	0	1	0	2	2	1	1	6	4	1	0	6	4	0	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:35757850C>T	uc002nyl.3	+	7	1491	c.1268C>T	c.(1267-1269)cCc>cTc	p.P423L	LSR_uc010xsr.2_Missense_Mutation_p.P315L|LSR_uc002nym.3_Missense_Mutation_p.P404L|LSR_uc002nyn.3_Missense_Mutation_p.P355L|LSR_uc002nyo.3_Missense_Mutation_p.P403L|LSR_uc002nyp.3_Missense_Mutation_p.P365L|USF2_uc010xss.1_5'Flank|USF2_uc002nyq.1_5'Flank|USF2_uc002nyr.1_5'Flank|USF2_uc002nyt.1_5'Flank|USF2_uc002nyv.1_5'Flank	NM_205834	NP_991403	Q86X29	LSR_HUMAN	Homo sapiens lipolysis stimulated lipoprotein receptor (LSR), transcript variant 2, mRNA.	423					embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGCCCCCCCAGTGGCCGT	0.622													T	35757850	C	T	35757850	3	4	119	1	0	0	0	0	1	0	0	0	9134	623	22	2	1298	2	LSR	19	35757850	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	14151393	35757850	23371133	82	8043											
CEACAM18	729767	broad.mit.edu	37	chr19	51986389	51986389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattccttcctggatctcaaGtaccactggatccacaatgg	10	12	7	12	0	1	0	1	0	1	0	5	2	4	2	4	3	1	1	4	3	4	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:51986389G>A	uc002pwv.1	+	4	975	c.975G>A	c.(973-975)aaG>aaA	p.K325K		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	325	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TGGATCTCAAGTACCACTGGA	0.512													A	51986389	G	A	51986389	2	1	119	1	0	0	0	0	0	0	0	1	3219	1020	36	2		2	CEACAM18	19	51986389	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	16228539	51986389	7142594	83	8044											
ZNF845	91664	broad.mit.edu	37	chr19	53855879	53855879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtttcaaatcaaaccttCaaagacataggagaattcat	17	11	5	8	0	5	2	5	0	0	2	5	3	5	2	1	1	1	1	1	1	5	4			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:53855879C>G	uc010ydv.1	+	3	2068	c.1951C>G	c.(1951-1953)Caa>Gaa	p.Q651E	ZNF845_uc010ydw.1_Missense_Mutation_p.Q651E	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	651					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.Q651E(2)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAACCTTCAAAGACATAG	0.398													G	53855879	C	G	53855879	3	3	119	1	0	0	0	0	1	0	0	0	18290	827	29	4	1961	4	ZNF845	19	53855879	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	1869490	53855879	5273104	84	8045											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704064	56704064	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggtcttctgttatttcGtagcaggtcctccaggtctt	4	17	10	10	1	3	0	0	0	3	0	6	0	5	0	2	3	1	3	2	3	2	6			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr19:56704064G>A	uc010ygh.2	-	0	358	c.358C>T	c.(358-360)Cga>Tga	p.R120*		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	120	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTGTTATTTCGTAGCAGGTCC	0.537													A	56704064	G	A	56704064	4	1	119	1	0	0	0	0	0	1	0	0	18336	1153	40	1	1145	1	ZSCAN5B	19	56704064	Nonsense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	2848185	56704064	2424919	85	8046											
ACTR5	79913	broad.mit.edu	37	chr20	37383758	37383758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagctcaatgcccggCggcgggaggagaagctgcag	9	4	18	10	3	1	1	1	0	0	1	1	4	1	3	1	5	5	4	1	5	2	0			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:37383758C>T	uc002xjd.2	+	3	959	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_024855	NP_079131	Q9H9F9	ARP5_HUMAN	Homo sapiens ARP5 actin-related protein 5 homolog (yeast) (ACTR5), mRNA.	312					DNA recombination|double-strand break repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent|UV-damage excision repair	cytoplasm|Ino80 complex	ATP binding|protein binding			kidney(2)|large_intestine(2)|liver(1)|lung(5)|skin(2)	12		Myeloproliferative disorder(115;0.00878)				CAATGCCCGGCGGCGGGAGGA	0.597													T	37383758	C	T	37383758	3	4	119	1	0	0	0	0	1	0	0	0	215	759	27	1	948	1	ACTR5	20	37383758	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		37383758	25641762	86	8047											
SALL4	57167	broad.mit.edu	37	chr20	50400910	50400910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgcactgatacccgactggGagccatccatcttggagaca	10	8	10	13	1	1	2	0	1	1	1	2	5	2	3	3	2	3	1	3	2	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:50400910G>C	uc002xwh.4	-	3	3157	c.3056C>G	c.(3055-3057)tCc>tGc	p.S1019C	SALL4_uc010gii.3_Missense_Mutation_p.S582C|SALL4_uc002xwi.4_Missense_Mutation_p.S242C	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	1019					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCCGACTGGGAGCCATCCAT	0.542													C	50400910	G	C	50400910	3	2	119	1	0	0	0	0	1	0	0	0	13904	1174	41	4	109	4	SALL4	20	50400910	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	13017152	50400910	12624610	87	8048											
PRIC285	85441	broad.mit.edu	37	chr20	62195800	62195800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcacctcctccgcctcctCgtaggacagctggcggtcag	6	8	11	16	3	2	0	2	0	0	0	6	2	5	1	5	3	1	2	5	3	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr20:62195800C>T	uc002yfm.2	-	8	5267	c.4375G>A	c.(4375-4377)Gag>Aag	p.E1459K	PRIC285_uc002yfl.1_Missense_Mutation_p.E890K	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1459					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCCGCCTCCTCGTAGGACAGC	0.682													T	62195800	C	T	62195800	3	4	119	1	0	0	0	0	1	0	0	0	12571	893	31	1	3622	1	PRIC285	20	62195800	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	11794890	62195800	829720	88	8049											
PMM1	5372	broad.mit.edu	37	chr22	41974860	41974860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgttttcagggcttccAcgaacttctcccggatcttc	6	14	7	14	2	4	0	1	0	3	0	7	2	5	1	2	2	1	2	2	2	1	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chr22:41974860A>G	uc003bal.2	-	5	562	c.500T>C	c.(499-501)gTg>gCg	p.V167A		NM_002676	NP_002667	Q92871	PMM1_HUMAN	Homo sapiens phosphomannomutase 1 (PMM1), mRNA.	167					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	metal ion binding|phosphomannomutase activity	p.F166F(1)		NS(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(2)	11						CAGGGCTTCCACGAACTTCTC	0.617													G	41974860	A	G	41974860	3	3	119	1	0	0	0	0	1	0	0	0	12213	159	6	3	300	3	PMM1	22	41974860	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08		41974860	9329706	89	8050											
DMD	1756	broad.mit.edu	37	chrX	31165414	31165414	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcagctgccttagcCtgtgtaactgtgactccagc	7	10	10	14	0	0	1	0	1	0	0	2	1	2	1	4	0	6	4	4	0	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:31165414C>G	uc004dda.1	-	74	11019	c.10775G>C	c.(10774-10776)aGg>aCg	p.R3592T	DMD_uc004dcq.1_Missense_Mutation_p.R863T|DMD_uc004dcr.1_Missense_Mutation_p.R1022T|DMD_uc004dcs.1_Missense_Mutation_p.R1022T|DMD_uc004dct.1_Missense_Mutation_p.R1132T|DMD_uc004dcu.1_Missense_Mutation_p.R1132T|DMD_uc004dcv.1_Missense_Mutation_p.R1119T|DMD_uc004dcw.2_Missense_Mutation_p.R2248T|DMD_uc004dcx.2_Missense_Mutation_p.R2251T|DMD_uc004dcz.2_Missense_Mutation_p.R3469T|DMD_uc004dcy.1_Missense_Mutation_p.R3588T|DMD_uc004ddb.1_Missense_Mutation_p.R3584T|DMD_uc004dcp.1_Missense_Mutation_p.R511T|DMD_uc011mkb.1_Missense_Mutation_p.R414T|DMD_uc004dcm.1_Missense_Mutation_p.R524T|DMD_uc004dcn.1_Missense_Mutation_p.R511T|DMD_uc004dco.1_Missense_Mutation_p.R524T	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	3592					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCTTAGCCTGTGTAACTG	0.458													G	31165414	C	G	31165414	3	3	119	1	0	0	0	0	1	0	0	0	4619	681	24	4	388	4	DMD	23	31165414	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08		31165414	124105146	90	8051											
MAGEB16	139604	broad.mit.edu	37	chrX	35820765	35820765	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagatgatgagagccactTctctgagatcctcctgagag	12	9	10	10	0	1	5	0	4	1	4	4	8	3	5	3	0	1	0	3	0	1	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:35820765T>A	uc010ngt.1	+	1	731	c.452T>A	c.(451-453)tTc>tAc	p.F151Y	MAGEB16_uc022bus.1_Missense_Mutation_p.F151Y	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	151	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGAGCCACTTCTCTGAGATC	0.448													A	35820765	T	A	35820765	3	1	119	1	0	0	0	0	1	0	0	0	9249	1783	62	5	454	5	MAGEB16	23	35820765	Missense_Mutation	SNP	T	TCGA-12-3649-01A-01D-1495-08	4655351	35820765	119449795	91	8052											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177576	89177576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtggcccttgccaaaGggccagatgtcaagagagaa	11	6	12	12	0	1	3	1	0	0	3	1	4	1	3	5	2	1	0	5	2	3	1			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:89177576G>A	uc022bzr.1	+	0	492	c.492G>A	c.(490-492)aaG>aaA	p.K164K	TGIF2LX_uc004efe.3_Silent_p.K164K	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	164						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCTTGCCAAAGGGCCAGATGT	0.592													A	89177576	G	A	89177576	2	1	119	1	0	0	0	0	0	0	0	1	15927	991	35	2		2	TGIF2LX	23	89177576	Silent	SNP	G	TCGA-12-3649-01A-01D-1495-08	53356811	89177576	66092984	92	8053											
DIAPH2	1730	broad.mit.edu	37	chrX	96212894	96212894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctccattgccaggtgtagGgccgcctccaccaccacccg	7	6	9	19	2	0	0	0	0	0	0	2	0	2	0	9	2	1	1	9	2	1	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:96212894G>T	uc004efu.4	+	15	2078	c.1682G>T	c.(1681-1683)gGg>gTg	p.G561V	DIAPH2_uc004eft.4_Missense_Mutation_p.G561V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	561	FH1.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						CCAGGTGTAGGGCCGCCTCCA	0.537													T	96212894	G	T	96212894	3	4	119	1	0	0	0	0	1	0	0	0	4558	1232	43	4	1744	4	DIAPH2	23	96212894	Missense_Mutation	SNP	G	TCGA-12-3649-01A-01D-1495-08	7035318	96212894	59057666	93	8054											
MAGEC2	51438	broad.mit.edu	37	chrX	141291061	141291061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacagttgccctttatgAagatcacactcagaataata	15	10	7	9	0	2	3	2	1	0	2	2	3	2	3	1	1	1	2	1	1	5	5			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:141291061A>T	uc022cfj.1	-	0	713	c.713T>A	c.(712-714)tTc>tAc	p.F238Y	MAGEC2_uc004fbu.2_Missense_Mutation_p.F238Y	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	238	MAGE.					cytoplasm|nucleus		p.I237T(1)		NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GCCCTTTATGAAGATCACACT	0.512										HNSCC(46;0.14)			T	141291061	A	T	141291061	3	4	119	1	0	0	0	0	1	0	0	0	9256	246	9	5	412	5	MAGEC2	23	141291061	Missense_Mutation	SNP	A	TCGA-12-3649-01A-01D-1495-08	45078167	141291061	13979499	94	8055											
MAGEA12	4111	broad.mit.edu	37	chrX	151900207	151900207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgattatcaggaggcctgtCttgggcacgatctgattgtc	8	12	12	9	2	3	1	1	1	2	0	4	4	3	2	1	3	0	1	1	3	1	3			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:151900207C>A	uc022chj.1	-	0	594	c.594G>T	c.(592-594)aaG>aaT	p.K198N	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.K198N|MAGEA12_uc022chi.1_Missense_Mutation_p.K198N|MAGEA12_uc004fgc.3_Missense_Mutation_p.K198N	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	198	MAGE.							p.K198*(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGCCTGTCTTGGGCACGA	0.577													A	151900207	C	A	151900207	3	1	119	1	0	0	0	0	1	0	0	0	9237	912	32	4	354	4	MAGEA12	23	151900207	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	10609146	151900207	3370353	95	8056											
SPRY3	10251	broad.mit.edu	37	chrX	155003952	155003952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaatctgcagggcaccCtagtgagcacctcttcatct	9	10	9	13	0	4	2	1	2	3	0	4	2	4	2	2	1	3	4	2	1	2	2			TCGA-12-3649-01A-01D-1495-08	TCGA-12-3649-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2580567a-8f51-4cb7-9525-bba987c55e36	75bb80be-e071-475d-829e-b6a635281011	g.chrX:155003952C>A	uc022cio.1	+	0	419	c.419C>A	c.(418-420)cCt>cAt	p.P140H	SPRY3_uc004fnq.1_Missense_Mutation_p.P140H	NM_005840	NP_005831	O43610	SPY3_HUMAN	Homo sapiens sprouty homolog 3 (Drosophila) (SPRY3), mRNA.	140					multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCAGGGCACCCTAGTGAGCAC	0.612													A	155003952	C	A	155003952	3	1	119	1	0	0	0	0	1	0	0	0	15203	681	24	4	421	4	SPRY3	23	155003952	Missense_Mutation	SNP	C	TCGA-12-3649-01A-01D-1495-08	3103745	155003952	266608	96	8057											
FOXJ3	22887	broad.mit.edu	37	chr1	42693556	42693556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgataaagagcctttacccGttctacagatcgtgccctct	10	12	7	12	2	2	3	0	1	2	2	3	3	2	3	3	0	4	1	3	0	4	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:42693556G>A	uc001che.3	-	6	838	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	FOXJ3_uc001chf.3_Missense_Mutation_p.R176W|FOXJ3_uc001chh.2_Missense_Mutation_p.R176W|FOXJ3_uc001chg.3_Missense_Mutation_p.R176W	NM_001198851	NP_001185780	Q9UPW0	FOXJ3_HUMAN	Homo sapiens forkhead box J3 (FOXJ3), transcript variant 3, mRNA.	176					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(52;0.01)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCCTTTACCCGTTCTACAGAT	0.393													A	42693556	G	A	42693556	3	1	120	1	0	0	0	0	1	0	0	0	6064	1144	40	1	1378	1	FOXJ3	1	42693556	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		42693556	206557065	1	8058											
NSUN4	387338	broad.mit.edu	37	chr1	46810560	46810560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcagtttggagatctttggCcatcaatccgtgtcagtctc	7	14	10	10	1	4	1	2	0	2	1	6	2	5	1	2	2	1	2	2	2	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:46810560C>T	uc001cpr.1	+	1	290	c.181C>T	c.(181-183)Cca>Tca	p.P61S	NSUN4_uc010omc.1_Missense_Mutation_p.P12S|NSUN4_uc009vyf.1_5'UTR|NSUN4_uc009vyg.1_Missense_Mutation_p.P12S|NSUN4_uc001cpt.1_Non-coding_Transcript|NSUN4_uc001cps.1_Non-coding_Transcript	NM_199044	NP_950245	Q96CB9	NSUN4_HUMAN	Homo sapiens NOP2/Sun domain family, member 4 (NSUN4), transcript variant 1, mRNA.	61							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	8	Acute lymphoblastic leukemia(166;0.155)					AGATCTTTGGCCATCAATCCG	0.488													T	46810560	C	T	46810560	3	4	120	1	0	0	0	0	1	0	0	0	10756	739	26	2	187	2	NSUN4	1	46810560	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	4117004	46810560	202440061	2	8059											
COL11A1	1301	broad.mit.edu	37	chr1	103487313	103487313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttctctccatatgcacCatggccatttatctgttgaa	8	16	5	12	0	2	1	0	1	2	0	5	1	4	1	4	1	1	2	4	1	3	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:103487313C>A	uc001dum.3	-	8	1612	c.1294G>T	c.(1294-1296)Ggt>Tgt	p.G432C	COL11A1_uc001duk.3_5'UTR|COL11A1_uc001dul.3_Missense_Mutation_p.G420C|COL11A1_uc001dun.3_Missense_Mutation_p.G381C|COL11A1_uc009weh.3_Missense_Mutation_p.G304C	NM_080629	NP_542196	P12107	COBA1_HUMAN	Homo sapiens collagen, type XI, alpha 1 (COL11A1), transcript variant B, mRNA.	420	Triple-helical region (interrupted).				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CCATATGCACCATGGCCATTT	0.343													A	103487313	C	A	103487313	3	1	120	1	0	0	0	0	1	0	0	0	3698	594	21	4	4398	4	COL11A1	1	103487313	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	56676753	103487313	145763308	3	8060											
HSPA6	3310	broad.mit.edu	37	chr1	161495457	161495457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagattcatgacgtcGtcctggtggggggctccaca	7	8	14	12	2	1	2	1	1	0	1	4	2	3	2	3	5	0	1	3	5	0	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:161495457G>A	uc001gaq.3	+	0	1422	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	TRNA_Gly_uc021pdc.1_5'Flank	NM_002155	NP_002146	P17066	HSP76_HUMAN	Homo sapiens heat shock 70kDa protein 6 (HSP70B') (HSPA6), mRNA.	337					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			TCATGACGTCGTCCTGGTGGG	0.597													A	161495457	G	A	161495457	3	1	120	1	0	0	0	0	1	0	0	0	7472	1145	40	1	1011	1	HSPA6	1	161495457	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	58008144	161495457	87755164	4	8061											
CFHR2	3080	broad.mit.edu	37	chr1	196927110	196927110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatatgctccaggttcatcaGttgagtaccagtgccagaac	11	11	9	10	0	2	2	2	1	0	1	3	2	3	2	3	1	4	4	3	1	4	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr1:196927110G>T	uc001gtq.1	+	3	597	c.520G>T	c.(520-522)Gtt>Ttt	p.V174F	CFHR2_uc001gtr.1_Missense_Mutation_p.V50F	NM_005666	NP_005657	P36980	FHR2_HUMAN	Homo sapiens complement factor H-related 2 (CFHR2), mRNA.	174	Sushi 3.					extracellular region				large_intestine(2)|ovary(1)|skin(3)	6						AGGTTCATCAGTTGAGTACCA	0.403													T	196927110	G	T	196927110	3	4	120	1	0	0	0	0	1	0	0	0	3315	1029	36	4	534	4	CFHR2	1	196927110	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	35431653	196927110	52323511	5	8062											
PLB1	151056	broad.mit.edu	37	chr2	28741363	28741363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attctccattcccatgcaacCcaaataaattaggagtgaat	15	11	5	10	0	1	1	0	1	1	0	3	2	2	2	3	1	2	1	3	1	6	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr2:28741363C>A	uc002rmb.2	+	2	192	c.148C>A	c.(148-150)Cca>Aca	p.P50T	PLB1_uc010ezj.2_Missense_Mutation_p.P50T	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	50	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCCATGCAACCCAAATAAATT	0.428													A	28741363	C	A	28741363	3	1	120	1	0	0	0	0	1	0	0	0	12101	623	22	4	158	4	PLB1	2	28741363	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		28741363	214458010	6	8063											
STK32B	55351	broad.mit.edu	37	chr4	5461833	5461833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctctaactgcagctcCtgaccaaggatcctgagagc	9	9	9	14	0	1	2	0	2	1	1	3	4	3	3	4	1	5	2	4	1	2	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:5461833C>T	uc003gih.1	+	8	851	c.787C>T	c.(787-789)Ctg>Ttg	p.L263L	STK32B_uc010ida.1_Silent_p.L216L	NM_018401	NP_060871	Q9NY57	ST32B_HUMAN	Homo sapiens serine/threonine kinase 32B (STK32B), mRNA.	263	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						ACTGCAGCTCCTGACCAAGGA	0.552											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	5461833	C	T	5461833	2	4	120	1	0	0	0	0	0	0	0	1	15394	680	24	2		2	STK32B	4	5461833	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		5461833	185692443	7	8064											
ADH1B	125	broad.mit.edu	37	chr4	100232699	100232699	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accataaacagcccccttccAggtgcgtccagtcagtagca	11	7	8	15	1	1	0	1	0	0	0	3	0	3	0	5	1	4	2	5	1	3	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:100232699A>C	uc003hus.4	-	6	1027	c.943T>G	c.(943-945)Tgg>Ggg	p.W315G	ADH1B_uc003hut.4_Missense_Mutation_p.W275G|ADH1B_uc011ceh.2_Missense_Mutation_p.W160G|ADH1B_uc011cei.1_Missense_Mutation_p.W275G	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	315					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GCCCCCTTCCAGGTGCGTCCA	0.433													C	100232699	A	C	100232699	3	2	120	1	0	0	0	0	1	0	0	0	308	188	7	5	196	5	ADH1B	4	100232699	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08	94770866	100232699	90921577	8	8065											
TACR3	6870	broad.mit.edu	37	chr4	104640358	104640358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaagttctggaagcGgcagtagttggcgccaaagt	13	7	15	6	2	1	1	0	0	1	1	1	3	1	3	1	4	1	4	1	4	5	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:104640358G>A	uc003hxe.1	-	0	616	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	159						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TTCTGGAAGCGGCAGTAGTTG	0.542													A	104640358	G	A	104640358	3	1	120	1	0	0	0	0	1	0	0	0	15604	1116	39	1	942	1	TACR3	4	104640358	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	4407659	104640358	86513918	9	8066											
VEGFC	7424	broad.mit.edu	37	chr4	177650867	177650867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctacactggacacagaccGtaactgctcctccagatctt	11	10	6	14	1	2	2	0	0	2	2	4	3	4	3	3	1	3	2	3	1	2	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr4:177650867G>A	uc003ius.1	-	1	611	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W		NM_005429	NP_005420	P49767	VEGFC_HUMAN	Homo sapiens vascular endothelial growth factor C (VEGFC), mRNA.	61					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity	p.R61P(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GACACAGACCGTAACTGCTCC	0.408													A	177650867	G	A	177650867	3	1	120	1	0	0	0	0	1	0	0	0	17254	1144	40	1	1105	1	VEGFC	4	177650867	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	73010509	177650867	13503409	10	8067											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140705	140705	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagctccagaggggccCaggctgcagcctgccacacc	9	3	12	17	0	0	2	0	0	0	2	1	2	1	2	6	3	4	3	6	3	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:140705C>T	uc003jak.2	+	0	333	c.283C>T	c.(283-285)Cag>Tag	p.Q95*		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	95					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CAGAGGGGCCCAGGCTGCAGC	0.662													T	140705	C	T	140705	4	4	120	1	0	0	0	0	0	1	0	0	12149	595	21	2	285	2	PLEKHG4B	5	140705	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		140705	180774555	11	8068											
SLC6A19	340024	broad.mit.edu	37	chr5	1216997	1216997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcggtgcaacgcctcCgaccccgcggcctacgcgca	7	3	12	19	7	0	0	0	0	0	0	1	1	1	0	5	2	5	3	5	2	2	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:1216997C>T	uc003jbw.4	+	7	1166	c.1110C>T	c.(1108-1110)tcC>tcT	p.S370S		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	370					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCAACGCCTCCGACCCCGCGG	0.627													T	1216997	C	T	1216997	2	4	120	1	0	0	0	0	0	0	0	1	14776	639	23	1		1	SLC6A19	5	1216997	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	1076292	1216997	179698263	12	8069											
SLIT3	6586	broad.mit.edu	37	chr5	168310294	168310294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacatcggtgatgccgCggaacgccttcctcgggatc	6	10	11	14	5	2	1	1	1	1	0	6	3	3	3	3	3	2	0	3	3	1	2	rs138901310		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr5:168310294C>T	uc010jjg.3	-	4	881	c.461G>A	c.(460-462)cGc>cAc	p.R154H	SLIT3_uc003mab.3_Missense_Mutation_p.R154H|SLIT3_uc010jji.2_Missense_Mutation_p.R154H	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	154					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGATGCCGCGGAACGCCTT	0.502													T	168310294	C	T	168310294	3	4	120	1	0	0	0	0	1	0	0	0	14835	768	27	1	4238	1	SLIT3	5	168310294	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	167093297	168310294	12604966	13	8070											
MUC21	394263	broad.mit.edu	37	chr6	30954349	30954349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaccctccagtggggccAgcacagccaccaactctgac	10	4	9	18	0	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:30954349A>G	uc003nsh.2	+	1	648	c.397A>G	c.(397-399)Agc>Ggc	p.S133G	MUC21_uc003nsi.1_Non-coding_Transcript|MUC21_uc021yuf.1_Missense_Mutation_p.S117G	NM_001010909	NP_001010909	Q5SSG8	MUC21_HUMAN	Homo sapiens mucin 21, cell surface associated (MUC21), mRNA.	133	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane		p.A132V(2)|p.S133R(1)		NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.612													G	30954349	A	G	30954349	3	3	120	1	0	0	0	0	1	0	0	0	10053	188	7	3	403	3	MUC21	6	30954349	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08		30954349	140160718	14	8071											
TFAP2D	83741	broad.mit.edu	37	chr6	50696983	50696983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacttaccagcaggaagaCggaaagcagctaatgtcacc	16	6	9	10	1	1	1	1	0	0	1	1	3	1	3	2	2	5	3	2	2	6	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:50696983C>T	uc003paf.3	+	4	1353	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	281	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGCAGGAAGACGGAAAGCAGC	0.423													T	50696983	C	T	50696983	3	4	120	1	0	0	0	0	1	0	0	0	15890	527	19	1	859	1	TFAP2D	6	50696983	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	19742634	50696983	120418084	15	8072											
EPB41L2	2037	broad.mit.edu	37	chr6	131277174	131277174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggtttttcttccttgCtcactgagggtttttcttcc	3	19	9	10	0	3	2	1	2	2	0	5	2	5	2	2	2	1	3	2	2	0	7			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:131277174C>G	uc003qch.2	-	1	634	c.452G>C	c.(451-453)aGc>aCc	p.S151T	EPB41L2_uc010kfl.2_Missense_Mutation_p.S151T|EPB41L2_uc003qcg.1_Missense_Mutation_p.S151T|EPB41L2_uc003qci.3_Missense_Mutation_p.S151T|EPB41L2_uc011eby.2_Missense_Mutation_p.S151T|EPB41L2_uc010kfk.2_Missense_Mutation_p.S151T	NM_001431	NP_001422	O43491	E41L2_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 2 (EPB41L2), transcript variant 1, mRNA.	151					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TTCTTCCTTGCTCACTGAGGG	0.408													G	131277174	C	G	131277174	3	3	120	1	0	0	0	0	1	0	0	0	5194	797	28	4	2637	4	EPB41L2	6	131277174	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	80580191	131277174	39837893	16	8073											
C6orf118	168090	broad.mit.edu	37	chr6	165715366	165715366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctctgacagcctccaCtggaaggaaatcctcctctg	8	9	7	17	0	2	1	0	1	2	0	6	3	5	3	6	2	1	0	6	2	2	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr6:165715366C>T	uc003qum.4	-	1	481	c.445G>A	c.(445-447)Gtg>Atg	p.V149M	C6orf118_uc011egi.1_Non-coding_Transcript	NM_144980	NP_659417	Q5T5N4	CF118_HUMAN	Homo sapiens chromosome 6 open reading frame 118 (C6orf118), mRNA.	149										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		ACAGCCTCCACTGGAAGGAAA	0.627													T	165715366	C	T	165715366	3	4	120	1	0	0	0	0	1	0	0	0	2345	565	20	2	996	2	C6orf118	6	165715366	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	34438192	165715366	5399701	17	8074											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	120	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		55221822	103916841	18	8075											
EGFR	1956	broad.mit.edu	37	chr7	55225428	55225428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacctagaaatcatacGcggcaggaccaagcaacagt	16	5	10	10	2	1	2	1	1	0	2	1	4	1	3	2	2	4	2	2	2	6	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:55225428G>T	uc003tqk.3	+	10	1526	c.1280G>T	c.(1279-1281)cGc>cTc	p.R427L	EGFR_uc003tqi.3_Missense_Mutation_p.R427L|EGFR_uc003tqj.3_Missense_Mutation_p.R427L|EGFR_uc022adm.1_Missense_Mutation_p.R427L|EGFR_uc010kzg.2_Missense_Mutation_p.R382L|EGFR_uc022adn.1_Missense_Mutation_p.R382L|EGFR_uc011kco.2_Missense_Mutation_p.R374L|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	427					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAAATCATACGCGGCAGGACC	0.453		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55225428	G	T	55225428	3	4	120	1	0	0	0	0	1	0	0	0	5006	1087	38	4	1333	4	EGFR	7	55225428	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	3606	55225428	103913235	19	8076											
CNPY4	245812	broad.mit.edu	37	chr7	99717380	99717380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtcatgggacctgtgCggttgggaatattgcttttc	5	16	13	7	1	1	0	1	0	0	0	2	2	1	2	1	3	2	3	1	3	2	6			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:99717380C>T	uc003uto.3	+	0	116	c.13C>T	c.(13-15)Cgg>Tgg	p.R5W	TAF6_uc003utm.3_5'Flank|TAF6_uc003uti.3_5'Flank|TAF6_uc003utk.3_5'Flank|TAF6_uc011kji.2_5'UTR	NM_152755	NP_689968	Q8N129	CNPY4_HUMAN	Homo sapiens canopy 4 homolog (zebrafish) (CNPY4), mRNA.	5						extracellular region				breast(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGACCTGTGCGGTTGGGAAT	0.542													T	99717380	C	T	99717380	3	4	120	1	0	0	0	0	1	0	0	0	3661	759	27	1	15	1	CNPY4	7	99717380	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	44491952	99717380	59421283	20	8077											
SPDYE6	729597	broad.mit.edu	37	chr7	101989079	101989079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggaagatgttttgtttgGagtcctcgtcgtcctcctcc	5	15	11	10	2	0	1	0	0	0	1	6	3	4	3	4	2	0	2	4	2	1	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:101989079G>T	uc011kkp.2	-	5	1215	c.794C>A	c.(793-795)tCc>tAc	p.S265Y	DQ601342_uc022aje.1_5'Flank	NM_001146210	NP_001139682	P0CI01	SPDE6_HUMAN	Homo sapiens speedy homolog E6 (Xenopus laevis) (SPDYE6), mRNA.	265																	GTTTTGTTTGGAGTCCTCGTC	0.557													T	101989079	G	T	101989079	3	4	120	1	0	0	0	0	1	0	0	0	15129	1174	41	4	422	4	SPDYE6	7	101989079	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	2271699	101989079	57149584	21	8078											
SPAM1	6677	broad.mit.edu	37	chr7	123594466	123594466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacactctatgtgcgcaatcGagttcgggaagccatcagag	11	9	11	10	3	2	1	1	0	1	1	4	3	2	2	1	1	3	2	1	1	4	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:123594466G>A	uc003vle.3	+	2	1281	c.842G>A	c.(841-843)cGa>cAa	p.R281Q	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.R281Q|SPAM1_uc022aks.1_Missense_Mutation_p.R281Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R281Q|SPAM1_uc010lku.3_Missense_Mutation_p.R281Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	281					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GTGCGCAATCGAGTTCGGGAA	0.428													A	123594466	G	A	123594466	3	1	120	1	0	0	0	0	1	0	0	0	15082	1058	37	1	844	1	SPAM1	7	123594466	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	21605387	123594466	35544197	22	8079											
FLNC	2318	broad.mit.edu	37	chr7	128491526	128491526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggtctgtcactggccGtggagggcccatccaaggca	7	6	16	12	1	2	0	1	0	1	0	3	1	3	1	3	6	0	1	3	6	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:128491526G>A	uc003vnz.4	+	34	5895	c.5686G>A	c.(5686-5688)Gtg>Atg	p.V1896M	FLNC_uc003voa.4_Missense_Mutation_p.V1863M	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1896					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GTCACTGGCCGTGGAGGGCCC	0.622													A	128491526	G	A	128491526	3	1	120	1	0	0	0	0	1	0	0	0	5984	1145	40	1	5824	1	FLNC	7	128491526	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	4897060	128491526	30647137	23	8080											
SLC13A4	26266	broad.mit.edu	37	chr7	135376342	135376342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcgctggaatgaggaaGaggaggaagccaaggaagac	14	6	15	6	1	1	3	0	1	1	2	2	8	1	8	1	5	1	1	1	5	5	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr7:135376342G>A	uc003vtb.3	-	11	1964	c.1275C>T	c.(1273-1275)ctC>ctT	p.L425L	SLC13A4_uc003vta.3_Silent_p.L424L|C7orf73_uc003vsz.4_Non-coding_Transcript	NM_012450	NP_036582	Q9UKG4	S13A4_HUMAN	Homo sapiens solute carrier family 13 (sodium/sulfate symporters), member 4 (SLC13A4), mRNA.	424						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						GAATGAGGAAGAGGAGGAAGC	0.478													A	135376342	G	A	135376342	2	1	120	1	0	0	0	0	0	0	0	1	14488	929	33	2		2	SLC13A4	7	135376342	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	6884816	135376342	23762321	24	8081											
CLU	1191	broad.mit.edu	37	chr8	27456003	27456003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttgcggtattcctgcagCgctttctccgccacggtctc	3	15	9	14	4	2	0	0	0	2	0	5	0	3	0	3	2	3	3	3	2	1	5	rs144959547	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:27456003C>T	uc003xfy.2	-	7	1494	c.1347G>A	c.(1345-1347)gcG>gcA	p.A449A	CLU_uc003xfw.2_Silent_p.A438A|CLU_uc003xfx.2_Silent_p.A438A|CLU_uc003xfz.2_Silent_p.A438A	NM_001831	NP_001822	P10909	CLUS_HUMAN	Homo sapiens clusterin (CLU), transcript variant 1, mRNA.	438					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		ATTCCTGCAGCGCTTTCTCCG	0.542													T	27456003	C	T	27456003	2	4	120	1	0	0	0	0	0	0	0	1	3599	755	27	1		1	CLU	8	27456003	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		27456003	118908019	25	8082											
ZBTB10	65986	broad.mit.edu	37	chr8	81431744	81431744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaatcaggagaagtttGtatgtctctagatgattaac	13	13	11	4	0	2	4	1	2	1	2	3	6	2	5	0	2	1	2	0	2	5	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr8:81431744G>T	uc003ybx.4	+	5	3195	c.2597G>T	c.(2596-2598)tGt>tTt	p.C866F	ZBTB10_uc003ybv.4_Missense_Mutation_p.C574F|ZBTB10_uc003ybw.4_Missense_Mutation_p.C842F|ZBTB10_uc022awq.1_Missense_Mutation_p.C842F|ZBTB10_uc010lzt.3_Missense_Mutation_p.C864F|ZBTB10_uc022awr.1_Non-coding_Transcript	NM_001105539	NP_001099009	Q96DT7	ZBT10_HUMAN	Homo sapiens zinc finger and BTB domain containing 10 (ZBTB10), transcript variant 1, mRNA.	866					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			GGAGAAGTTTGTATGTCTCTA	0.408													T	81431744	G	T	81431744	3	4	120	1	0	0	0	0	1	0	0	0	17624	1377	48	4	2619	4	ZBTB10	8	81431744	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	53975741	81431744	64932278	26	8083											
TAF1L	138474	broad.mit.edu	37	chr9	32630679	32630679	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtacaaatatccttctcAagttgagtcaaatgctcatc	12	13	6	10	0	3	1	3	1	1	0	6	1	4	1	1	0	2	4	1	0	5	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:32630679A>T	uc003zrg.1	-	0	4989	c.4899T>A	c.(4897-4899)ctT>ctA	p.L1633L	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1633					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TATCCTTCTCAAGTTGAGTCA	0.448													T	32630679	A	T	32630679	2	4	120	1	0	0	0	0	0	0	0	1	15620	117	5	5		5	TAF1L	9	32630679	Silent	SNP	A	TCGA-12-3650-01A-01D-1495-08		32630679	108582752	27	8084											
OR13C9	286362	broad.mit.edu	37	chr9	107379535	107379535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacattttgcattcacttGctaaagaaccttctgttcgg	10	15	7	9	1	2	1	1	0	1	1	3	1	2	1	1	1	4	4	1	1	4	8			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:107379535G>A	uc011lvr.2	-	0	951	c.951C>T	c.(949-951)agC>agT	p.S317S		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	317					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						GCATTCACTTGCTAAAGAACC	0.353													A	107379535	G	A	107379535	2	1	120	1	0	0	0	0	0	0	0	1	11015	1310	46	2		2	OR13C9	9	107379535	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	74748856	107379535	33833896	28	8085											
SVEP1	79987	broad.mit.edu	37	chr9	113173765	113173765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatgagctatacaacgggGcatgtcttgaccttctgggg	10	10	13	8	1	2	2	0	2	2	0	2	3	2	2	1	4	3	2	1	4	4	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:113173765G>A	uc010mtz.3	-	36	6563	c.6226C>T	c.(6226-6228)Ccc>Tcc	p.P2076S	SVEP1_uc010mty.3_Missense_Mutation_p.P2S	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2076	Sushi 11.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATACAACGGGGCATGTCTTGA	0.483													A	113173765	G	A	113173765	3	1	120	1	0	0	0	0	1	0	0	0	15516	1203	42	2	4537	2	SVEP1	9	113173765	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	5794230	113173765	28039666	29	8086											
ADAMTS13	11093	broad.mit.edu	37	chr9	136302931	136302931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttcatcatgaagcgtggaGacagcttcctcgatgggacc	9	9	12	11	2	2	2	2	1	0	1	4	5	3	3	2	2	2	2	2	2	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr9:136302931G>A	uc004cdv.4	+	12	1942	c.1498G>A	c.(1498-1500)Gac>Aac	p.D500N	ADAMTS13_uc004cdp.4_Intron|ADAMTS13_uc004cdt.1_Missense_Mutation_p.D500N|ADAMTS13_uc004cdu.1_Missense_Mutation_p.D469N|ADAMTS13_uc004cdw.4_Missense_Mutation_p.D500N|ADAMTS13_uc004cdx.4_Missense_Mutation_p.D469N|ADAMTS13_uc004cdy.1_Non-coding_Transcript|ADAMTS13_uc004cdz.4_Missense_Mutation_p.D170N|ADAMTS13_uc004cdr.1_Non-coding_Transcript|ADAMTS13_uc004cds.1_Intron	NM_139025	NP_620594	Q76LX8	ATS13_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 13 (ADAMTS13), transcript variant 1, mRNA.	500					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GAAGCGTGGAGACAGCTTCCT	0.627													A	136302931	G	A	136302931	3	1	120	1	0	0	0	0	1	0	0	0	258	942	33	2	1548	2	ADAMTS13	9	136302931	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	23129166	136302931	4910500	30	8087											
YME1L1	10730	broad.mit.edu	37	chr10	27415646	27415646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggaagtttacctccaaGaatagtaaatttttgtggat	12	17	8	4	0	0	1	0	0	0	1	1	3	1	3	2	2	1	2	2	2	7	8			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:27415646G>A	uc001iti.3	-	9	1309	c.1099C>T	c.(1099-1101)Ctt>Ttt	p.L367F	YME1L1_uc001itj.3_Missense_Mutation_p.L310F|YME1L1_uc010qdl.2_Missense_Mutation_p.L277F	NM_139312	NP_647473	Q96TA2	YMEL1_HUMAN	Homo sapiens YME1-like 1 (S. cerevisiae) (YME1L1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	367					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTACCTCCAAGAATAGTAAAT	0.274													A	27415646	G	A	27415646	3	1	120	1	0	0	0	0	1	0	0	0	17589	942	33	2	1266	2	YME1L1	10	27415646	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		27415646	108119101	31	8088											
DRGX	644168	broad.mit.edu	37	chr10	50599244	50599244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtccggttccggcgcTgttttctacgcagaaacccg	6	10	11	14	7	1	1	0	0	1	1	4	1	3	1	3	2	2	4	3	2	2	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr10:50599244T>G	uc010qgq.2	-	1	113	c.113A>C	c.(112-114)cAg>cCg	p.Q38P	DRGX_uc021pqd.1_Missense_Mutation_p.Q33P	NM_001080520	NP_001073989	C9JW76	C9JW76_HUMAN	Homo sapiens dorsal root ganglia homeobox (DRGX), mRNA.	38					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q38H(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	11						GTTCCGGCGCTGTTTTCTACG	0.507													G	50599244	T	G	50599244	3	3	120	1	0	0	0	0	1	0	0	0	4802	1580	55	5	712	5	DRGX	10	50599244	Missense_Mutation	SNP	T	TCGA-12-3650-01A-01D-1495-08	23183598	50599244	84935503	32	8089											
MUC5B	727897	broad.mit.edu	37	chr11	1274084	1274084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacggtggccaggtgcGtgggtgacaaccgtgtcgtc	6	8	16	11	4	0	1	0	1	0	0	2	1	0	1	2	4	3	1	2	4	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:1274084G>A	uc001lta.3	+	32	15150	c.15091G>A	c.(15091-15093)Gtg>Atg	p.V5031M		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5031					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGCCAGGTGCGTGGGTGACAA	0.632													A	1274084	G	A	1274084	3	1	120	1	0	0	0	0	1	0	0	0	10055	1145	40	1	15230	1	MUC5B	11	1274084	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08		1274084	133732432	33	8090											
MS4A1	931	broad.mit.edu	37	chr11	60231772	60231772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttacagtatattatttcCggatcactcctggcagcaac	10	15	6	10	1	1	0	1	0	0	0	3	1	3	1	2	2	3	3	2	2	5	7			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:60231772C>T	uc009yna.3	+	3	618	c.291C>T	c.(289-291)tcC>tcT	p.S97S	MS4A1_uc009ymy.1_3'UTR|MS4A1_uc009ymz.3_Silent_p.S97S|MS4A1_uc010rlc.2_Intron|MS4A1_uc001npp.3_Silent_p.S97S|MS4A1_uc001npq.3_Silent_p.S97S	NM_152866	NP_690605	P11836	CD20_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 1 (MS4A1), transcript variant 1, mRNA.	97					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	ATATTATTTCCGGATCACTCC	0.438													T	60231772	C	T	60231772	2	4	120	1	0	0	0	0	0	0	0	1	9930	639	23	1		1	MS4A1	11	60231772	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	58957688	60231772	74774744	34	8091											
PC	5091	broad.mit.edu	37	chr11	66637883	66637883	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgccgctggatggagcAgtctcgctcgtacaggtgca	6	8	15	12	4	1	0	0	0	1	0	3	2	1	2	2	3	4	5	2	3	1	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr11:66637883A>C	uc001ojn.1	-	6	842	c.793T>G	c.(793-795)Tgc>Ggc	p.C265G	PC_uc001ojo.1_Missense_Mutation_p.C265G|PC_uc001ojp.1_Missense_Mutation_p.C265G	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	265	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	TGGATGGAGCAGTCTCGCTCG	0.602													C	66637883	A	C	66637883	3	2	120	1	0	0	0	0	1	0	0	0	11573	188	7	5	2803	5	PC	11	66637883	Missense_Mutation	SNP	A	TCGA-12-3650-01A-01D-1495-08	6406111	66637883	68368633	35	8092											
IQSEC3	440073	broad.mit.edu	37	chr12	247990	247990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgatggctttccgggaCgtcacggtgcagatcgccaa	8	9	12	12	4	2	2	2	1	0	1	4	3	3	3	2	3	1	2	2	3	1	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:247990C>T	uc001qhw.2	+	3	1461	c.1461C>T	c.(1459-1461)gaC>gaT	p.D487D	IQSEC3_uc001qhu.1_Silent_p.D184D|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	487					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	p.N487K(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CTTTCCGGGACGTCACGGTGC	0.731													T	247990	C	T	247990	2	4	120	1	0	0	0	0	0	0	0	1	7877	535	19	1		1	IQSEC3	12	247990	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		247990	133603905	36	8093											
APOBEC1	339	broad.mit.edu	37	chr12	7805403	7805403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggggtcatagaagaCgtcaaactcccagggttcga	10	10	11	10	2	3	2	2	0	1	2	6	3	4	2	1	3	1	1	1	3	3	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:7805403C>T	uc001qtb.3	-	2	107	c.73G>A	c.(73-75)Gtc>Atc	p.V25I	APOBEC1_uc001qtc.3_5'UTR	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	25					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TCATAGAAGACGTCAAACTCC	0.483													T	7805403	C	T	7805403	3	4	120	1	0	0	0	0	1	0	0	0	790	536	19	1	649	1	APOBEC1	12	7805403	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	7557413	7805403	126046492	37	8094											
PKP2	5318	broad.mit.edu	37	chr12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttttaggaacaggggaaCggcctccaacaaaatcattt	14	9	10	8	1	1	0	1	0	0	0	2	2	2	2	2	5	3	1	2	5	6	3	rs149542398	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:33031888C>T	uc001rlj.4	-	1	417	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_uc001rlk.4_Missense_Mutation_p.R101H|PKP2_uc010skj.2_Missense_Mutation_p.R101H	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378													T	33031888	C	T	33031888	3	4	120	1	0	0	0	0	1	0	0	0	12062	536	19	1	2395	1	PKP2	12	33031888	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	25226485	33031888	100820007	38	8095											
PDZRN4	29951	broad.mit.edu	37	chr12	41967460	41967460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagcagcgccgtcgccGtgagttcatgatgcgaagca	11	6	13	11	5	1	3	1	2	0	1	2	4	1	3	2	0	4	3	2	0	2	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:41967460G>A	uc010skn.2	+	9	2887	c.2879G>A	c.(2878-2880)cGt>cAt	p.R960H	PDZRN4_uc001rmq.4_Missense_Mutation_p.R702H|PDZRN4_uc009zjz.3_Missense_Mutation_p.R700H|PDZRN4_uc001rmr.3_Missense_Mutation_p.R587H	NM_001164595	NP_001158067	Q6ZMN7	PZRN4_HUMAN	Homo sapiens PDZ domain containing ring finger 4 (PDZRN4), transcript variant 1, mRNA.	960	Poly-Arg.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CGCCGTCGCCGTGAGTTCATG	0.527													A	41967460	G	A	41967460	3	1	120	1	0	0	0	0	1	0	0	0	11786	1145	40	1	2990	1	PDZRN4	12	41967460	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	8935572	41967460	91884435	39	8096											
ORAI1	84876	broad.mit.edu	37	chr12	122079482	122079482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacgagctggcggagtttgCccgcttacaggaccagctgg	8	7	14	12	3	0	0	0	0	0	0	0	3	0	2	2	4	5	4	2	4	2	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr12:122079482C>T	uc021rff.1	+	1	1038	c.845C>T	c.(844-846)gCc>gTc	p.A282V		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	280					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		GCGGAGTTTGCCCGCTTACAG	0.607													T	122079482	C	T	122079482	3	4	120	1	0	0	0	0	1	0	0	0	11333	739	26	2	851	2	ORAI1	12	122079482	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	80112022	122079482	11772413	40	8097											
FOXO1	2308	broad.mit.edu	37	chr13	41134348	41134348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagggctcatgctggattggCcatatgtatatttttggtag	9	15	12	5	0	1	0	1	0	0	0	1	1	1	1	1	4	1	4	1	4	5	7			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr13:41134348C>A	uc001uxl.4	-	1	1665	c.1280G>T	c.(1279-1281)gGc>gTc	p.G427V	FOXO1_uc010acc.1_Missense_Mutation_p.G242V	NM_002015	NP_002006	Q12778	FOXO1_HUMAN	Homo sapiens forkhead box O1 (FOXO1), mRNA.	427					anti-apoptosis|blood vessel development|embryo development|endocrine pancreas development|insulin receptor signaling pathway|negative regulation of stress-activated MAPK cascade|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|response to DNA damage stimulus|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding		PAX7/FOXO1(197)|PAX3/FOXO1(749)	central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	20		Lung NSC(96;1.18e-05)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;7.32e-09)|Epithelial(112;2.87e-06)|OV - Ovarian serous cystadenocarcinoma(117;6.98e-05)|GBM - Glioblastoma multiforme(144;0.00394)|BRCA - Breast invasive adenocarcinoma(63;0.0815)		GCTGGATTGGCCATATGTATA	0.488													A	41134348	C	A	41134348	3	1	120	1	0	0	0	0	1	0	0	0	6074	739	26	4	691	4	FOXO1	13	41134348	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		41134348	74035530	41	8098											
CSPG4	1464	broad.mit.edu	37	chr15	75974722	75974722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggggccccgcaccacaCggtagagcaggagctggggg	7	3	19	12	2	0	1	0	0	0	1	0	2	0	2	3	6	2	5	3	6	1	1	rs143855050	byFrequency	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:75974722C>T	uc002baw.3	-	7	4955	c.4862G>A	c.(4861-4863)cGt>cAt	p.R1621H		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1621	Cysteine-containing.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CCGCACCACACGGTAGAGCAG	0.662													T	75974722	C	T	75974722	3	4	120	1	0	0	0	0	1	0	0	0	3993	536	19	1	2118	1	CSPG4	15	75974722	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		75974722	26556670	42	8099											
CHRNB4	1143	broad.mit.edu	37	chr15	78921864	78921864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacagtgtcatcttctcGccgcagtcggatggcaggta	8	10	12	11	3	3	0	1	0	2	0	5	1	3	1	1	3	1	4	1	3	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr15:78921864G>A	uc002bed.1	-	4	895	c.783C>T	c.(781-783)ggC>ggT	p.G261G	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_Silent_p.G79G	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	261					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCATCTTCTCGCCGCAGTCGG	0.567													A	78921864	G	A	78921864	2	1	120	1	0	0	0	0	0	0	0	1	3423	1074	38	1		1	CHRNB4	15	78921864	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	2947142	78921864	23609528	43	8100											
CACNG3	10368	broad.mit.edu	37	chr16	24372858	24372858	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaacatcagcagttaCgagccaaatcccactcggag	15	7	8	11	2	1	1	1	1	0	0	3	3	2	2	2	1	4	2	2	1	4	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:24372858C>T	uc002dmf.3	+	3	1824	c.622C>T	c.(622-624)Cga>Tga	p.R208*		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	208					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)		TCAGCAGTTACGAGCCAAATC	0.488													T	24372858	C	T	24372858	4	4	120	1	0	0	0	0	0	1	0	0	2584	528	19	1	636	1	CACNG3	16	24372858	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		24372858	65981895	44	8101											
ABCC11	85320	broad.mit.edu	37	chr16	48210869	48210869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgatgcccaccacttcGtggccgcggatggtcaggtt	6	8	12	15	4	1	0	1	0	0	0	2	2	1	1	4	4	1	1	4	4	0	2	rs143002804		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr16:48210869G>A	uc002eff.1	-	23	3854	c.3504C>T	c.(3502-3504)caC>caT	p.H1168H	ABCC11_uc002efg.1_Silent_p.H1168H|ABCC11_uc002efh.1_Silent_p.H1168H|ABCC11_uc010cbg.1_Non-coding_Transcript	NM_033151	NP_149163	Q96J66	ABCCB_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 11 (ABCC11), transcript variant 2, mRNA.	1168	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.H1168H(2)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CCACCACTTCGTGGCCGCGGA	0.562													A	48210869	G	A	48210869	2	1	120	1	0	0	0	0	0	0	0	1	51	1136	40	1		1	ABCC11	16	48210869	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	23838011	48210869	42143884	45	8102											
MAPK7	5598	broad.mit.edu	37	chr17	19284297	19284297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgagatgctggcccggCgccagctcttcccaggcaaa	7	8	13	13	2	1	1	0	1	1	1	2	2	2	1	3	4	2	3	3	4	1	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:19284297C>T	uc002gvn.3	+	3	1161	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	B9D1_uc010cqm.1_5'Flank|MAPK7_uc002gvo.3_Missense_Mutation_p.R120C|MAPK7_uc002gvq.3_Missense_Mutation_p.R259C|MAPK7_uc002gvp.3_Missense_Mutation_p.R259C	NM_139033	NP_620601	Q13164	MK07_HUMAN	Homo sapiens mitogen-activated protein kinase 7 (MAPK7), transcript variant 1, mRNA.	259	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GCTGGCCCGGCGCCAGCTCTT	0.567													T	19284297	C	T	19284297	3	4	120	1	0	0	0	0	1	0	0	0	9357	768	27	1	785	1	MAPK7	17	19284297	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		19284297	61910913	46	8103											
GAS2L2	246176	broad.mit.edu	37	chr17	34072485	34072485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggcttaggggagccagtCggggctgccttccaggcttc	4	9	16	12	1	0	0	0	0	0	0	3	1	1	1	3	6	2	4	3	6	1	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:34072485C>T	uc002hjv.2	-	5	2059	c.2031G>A	c.(2029-2031)ccG>ccA	p.P677P		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	677					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGAGCCAGTCGGGGCTGCCT	0.612													T	34072485	C	T	34072485	2	4	120	1	0	0	0	0	0	0	0	1	6301	871	31	1		1	GAS2L2	17	34072485	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	14788188	34072485	47122725	47	8104											
LHX1	3975	broad.mit.edu	37	chr17	35297618	35297618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaatgcgcaggctgcgctCagggcatctcccctagcgac	8	6	11	16	3	2	0	1	0	1	0	3	1	2	0	3	2	3	4	3	2	2	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:35297618C>G	uc002hnh.2	+	1	925	c.202C>G	c.(202-204)Cag>Gag	p.Q68E	LHX1_uc010cux.1_5'UTR	NM_005568	NP_005559	P48742	LHX1_HUMAN	Homo sapiens LIM homeobox 1 (LHX1), mRNA.	68	LIM zinc-binding 2.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				AGGCTGCGCTCAGGGCATCTC	0.652													G	35297618	C	G	35297618	3	3	120	1	0	0	0	0	1	0	0	0	8830	827	29	4	208	4	LHX1	17	35297618	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	1225133	35297618	45897592	48	8105											
JUP	3728	broad.mit.edu	37	chr17	39919367	39919367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcgcagagcgcagacGgcaggctccgtgatgtcgtc	7	6	17	11	5	0	3	0	1	0	2	3	3	1	3	1	4	1	4	1	4	0	0	rs77375949	by1000genomes	TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:39919367G>A	uc002hxq.2	-	7	1642	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	JUP_uc010wfs.2_Intron|JUP_uc002hxr.2_Silent_p.A455A|JUP_uc002hxs.2_Silent_p.A455A	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	455					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GAGCGCAGACGGCAGGCTCCG	0.607													A	39919367	G	A	39919367	2	1	120	1	0	0	0	0	0	0	0	1	8030	1103	39	1		1	JUP	17	39919367	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	4621749	39919367	41275843	49	8106											
HOXB1	3211	broad.mit.edu	37	chr17	46607745	46607745	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgaaggtccgggccgtgggGgtgttaggttctgaagggca	6	9	19	7	3	1	1	0	1	1	0	3	2	2	1	2	6	0	3	2	6	3	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:46607745G>T	uc002ink.1	-	0	528	c.522C>A	c.(520-522)acC>acA	p.T174T	HOXB1_uc021tzf.1_Silent_p.T174T	NM_002144	NP_002135	P14653	HXB1_HUMAN	Homo sapiens homeobox B1 (HOXB1), mRNA.	174						nucleus	protein domain specific binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGCCGTGGGGGTGTTAGGTT	0.592													T	46607745	G	T	46607745	2	4	120	1	0	0	0	0	0	0	0	1	7354	1219	43	4		4	HOXB1	17	46607745	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	6688378	46607745	34587465	50	8107											
KIF19	124602	broad.mit.edu	37	chr17	72342551	72342551	+	Frame_Shift_Del	DEL	C	C	-																															gcagcgtatgaaggagggggCccacatcaaccgctcactgc																										TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72342551delC	uc002jkm.4	+	7	950	c.812delC	c.(811-813)gccfs	p.A271fs	KIF19_uc002jkj.2_Frame_Shift_Del_p.A271fs|KIF19_uc002jkk.2_Frame_Shift_Del_p.A229fs|KIF19_uc002jkl.2_Frame_Shift_Del_p.A229fs	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	271	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AAGGAGGGGGCCCACATCAAC	0.597													-	72342551	C	-	72342551	7	5	120	1	0	1	0	1	0	0	0	0	8340	739	26	0	842	0	KIF19	17	72342551	Frame_Shift_Del	DEL	C	TCGA-12-3650-01A-01D-1495-08	25734806	72342551	8852659	51	8108											
CD300C	10871	broad.mit.edu	37	chr17	72539125	72539125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctgtggtcgtcccGgctgtgggtgaaacacaggt	6	9	17	9	2	0	1	0	1	0	0	2	2	1	2	1	6	1	2	1	6	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr17:72539125G>A	uc002jky.1	-	3	762	c.401_splice	c.e3-1	p.A134_splice		NM_006678	NP_006669	Q08708	CLM6_HUMAN	Homo sapiens CD300c molecule (CD300C), mRNA.	134	Pro-rich.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						TGGTCGTCCCGGCTGTGGGTG	0.577													A	72539125	G	A	72539125	2	1	120	1	0	0	0	0	0	0	0	1	3027	1130	39	1		1	CD300C	17	72539125	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	196574	72539125	8656085	52	8109											
C18orf21	83608	broad.mit.edu	37	chr18	33554930	33554930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggataactctcgagtgCgtctcaaacccaaagccagg	11	9	9	12	2	3	0	1	0	3	0	5	2	3	1	2	2	4	0	2	2	3	2			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr18:33554930C>T	uc002kzc.3	+	2	276	c.172C>T	c.(172-174)Cgt>Tgt	p.R58C	C18orf21_uc002kzd.3_5'UTR|C18orf21_uc021uit.1_Missense_Mutation_p.R58C|C18orf21_uc021uiu.1_5'UTR	NM_031446	NP_001188404	Q32NC0	CR021_HUMAN	Homo sapiens chromosome 18 open reading frame 21 (C18orf21), transcript variant 1, mRNA.	58										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						CTCTCGAGTGCGTCTCAAACC	0.373													T	33554930	C	T	33554930	3	4	120	1	0	0	0	0	1	0	0	0	1915	768	27	1	182	1	C18orf21	18	33554930	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		33554930	44522318	53	8110											
MUC16	94025	broad.mit.edu	37	chr19	9062926	9062926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaagtctctggtgacaCtgtgagctgagcaaagcctg	9	10	14	8	0	1	3	0	3	1	0	2	4	1	4	1	2	3	2	1	2	2	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:9062926C>T	uc002mkp.3	-	2	24724	c.24520G>A	c.(24520-24522)Gtg>Atg	p.V8174M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8176	Ser-rich.|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						TCTGGTGACACTGTGAGCTGA	0.502													T	9062926	C	T	9062926	3	4	120	1	0	0	0	0	1	0	0	0	10049	565	20	2	19331	2	MUC16	19	9062926	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08		9062926	50066057	54	8111											
TMEM38A	79041	broad.mit.edu	37	chr19	16790904	16790904	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttggggagccactgatCgattacttcagcaacaactc	10	10	8	13	1	1	1	1	1	0	0	4	3	2	2	2	2	5	1	2	2	3	3	rs144587502		TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:16790904C>T	uc002nes.3	+	1	325	c.234C>T	c.(232-234)atC>atT	p.I78I		NM_024074	NP_076979	Q9H6F2	TM38A_HUMAN	Homo sapiens transmembrane protein 38A (TMEM38A), mRNA.	78						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						AGCCACTGATCGATTACTTCA	0.602													T	16790904	C	T	16790904	2	4	120	1	0	0	0	0	0	0	0	1	16259	874	31	1		1	TMEM38A	19	16790904	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08	7727978	16790904	42338079	55	8112											
CCNE1	898	broad.mit.edu	37	chr19	30313489	30313489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacaacatacagacccaCagagacagcttggatttgct	14	7	8	12	0	0	2	0	0	0	2	0	4	0	3	1	1	4	3	1	1	2	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:30313489C>G	uc002nsn.3	+	10	1272	c.1089C>G	c.(1087-1089)caC>caG	p.H363Q	CCNE1_uc002nso.3_Missense_Mutation_p.H348Q	NM_001238	NP_001229	P24864	CCNE1_HUMAN	Homo sapiens cyclin E1 (CCNE1), mRNA.	363					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity	p.T362A(1)|p.H363N(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			TACAGACCCACAGAGACAGCT	0.507			A		serous ovarian								G	30313489	C	G	30313489	3	3	120	1	0	0	0	0	1	0	0	0	2950	477	17	4	1127	4	CCNE1	19	30313489	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	13522585	30313489	28815494	56	8113											
ZNF569	148266	broad.mit.edu	37	chr19	37904887	37904887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaataagtttttccttgtGactgaaggcttttctacagt	9	19	7	6	0	1	2	0	2	1	0	2	2	2	2	1	1	1	2	1	1	4	9			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:37904887G>C	uc002ogj.3	-	8	1677	c.745C>G	c.(745-747)Cac>Gac	p.H249D	ZNF569_uc002ogh.3_Missense_Mutation_p.H66D|ZNF569_uc002ogi.3_Missense_Mutation_p.H225D	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTTCCTTGTGACTGAAGGCT	0.348													C	37904887	G	C	37904887	3	2	120	1	0	0	0	0	1	0	0	0	18101	1290	45	4	1391	4	ZNF569	19	37904887	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	7591398	37904887	21224096	57	8114											
EML2	24139	broad.mit.edu	37	chr19	46116829	46116829	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcaggggtagctaaacagGtgaactttgccaaagtcatc	13	8	11	9	0	1	1	1	1	0	0	2	1	1	1	1	3	5	3	1	3	5	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr19:46116829G>A	uc010xxm.2	-	20	2470	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	EML2_uc002pcn.3_Silent_p.H598H|EML2_uc002pcp.3_Silent_p.H482H|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.H745H	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	598					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGCTAAACAGGTGAACTTTGC	0.582													A	46116829	G	A	46116829	2	1	120	1	0	0	0	0	0	0	0	1	5138	1252	44	2		2	EML2	19	46116829	Silent	SNP	G	TCGA-12-3650-01A-01D-1495-08	8211942	46116829	13012154	58	8115											
HCK	3055	broad.mit.edu	37	chr20	30681787	30681787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttggcctggcccgggTcattgaggacaacgagtaca	9	9	13	10	2	1	2	1	2	0	0	1	4	1	3	2	4	2	1	2	4	2	3			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:30681787T>C	uc002wxh.3	+	10	1451	c.1214T>C	c.(1213-1215)gTc>gCc	p.V405A	HCK_uc010gdy.3_Missense_Mutation_p.V385A|HCK_uc021wbv.1_Missense_Mutation_p.V384A|HCK_uc002wxi.3_Missense_Mutation_p.V383A	NM_001172133	NP_001165604	P08631	HCK_HUMAN	Homo sapiens hemopoietic cell kinase (HCK), transcript variant 4, mRNA.	405	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.A404D(1)|p.P405S(1)		NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTGGCCCGGGTCATTGAGGAC	0.552													C	30681787	T	C	30681787	3	2	120	1	0	0	0	0	1	0	0	0	7049	1667	58	3	1262	3	HCK	20	30681787	Missense_Mutation	SNP	T	TCGA-12-3650-01A-01D-1495-08		30681787	32343733	59	8116											
C20orf132	140699	broad.mit.edu	37	chr20	35752057	35752057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgttctgtgtacaggCcacttgggatgtcgacatca	7	13	10	11	1	2	0	1	0	1	0	4	2	3	1	2	2	1	2	2	2	1	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:35752057C>T	uc010zvu.2	-	15	2022	c.1931G>A	c.(1930-1932)gGc>gAc	p.G644D	C20orf132_uc002xgk.3_Missense_Mutation_p.G276D	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	55										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TGTGTACAGGCCACTTGGGAT	0.488													T	35752057	C	T	35752057	3	4	120	1	0	0	0	0	1	0	0	0	2107	739	26	2	1237	2	C20orf132	20	35752057	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	5070270	35752057	27273463	60	8117											
HNF4A	3172	broad.mit.edu	37	chr20	43042366	43042366	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgggaccggatcagcactCgaaggtcaagctatgaggac	12	5	14	10	3	2	1	2	1	0	0	3	5	2	4	1	4	3	2	1	4	3	1			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chr20:43042366C>T	uc002xma.3	+	3	507	c.418C>T	c.(418-420)Cga>Tga	p.R140*	HNF4A_uc002xlt.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlu.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xlv.3_Nonsense_Mutation_p.R118*|HNF4A_uc002xly.3_Nonsense_Mutation_p.R140*|HNF4A_uc010ggq.3_Nonsense_Mutation_p.R133*|HNF4A_uc002xlz.3_Nonsense_Mutation_p.R140*	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	140					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GATCAGCACTCGAAGGTCAAG	0.632													T	43042366	C	T	43042366	4	4	120	1	0	0	0	0	0	1	0	0	7308	876	31	1	485	1	HNF4A	20	43042366	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	7290309	43042366	19983154	61	8118											
ASMT	438	broad.mit.edu	37	chrX	1746635	1746635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagacgtttggcgttccCgctgaagagctttttacggc	6	12	13	10	4	0	3	0	1	0	2	1	4	1	3	1	3	2	4	1	3	2	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:1746635C>T	uc004cqd.3	+	4	630	c.414C>T	c.(412-414)ccC>ccT	p.P138P	ASMT_uc010ncy.3_Silent_p.P138P|ASMT_uc004cqe.3_Silent_p.P138P	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	138					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGGCGTTCCCGCTGAAGAGC	0.388													T	1746635	C	T	1746635	2	4	120	1	0	0	0	0	0	0	0	1	1050	639	23	1		1	ASMT	23	1746635	Silent	SNP	C	TCGA-12-3650-01A-01D-1495-08		1746635	153523925	62	8119											
FIGF	2277	broad.mit.edu	37	chrX	15381369	15381369	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctcagagtgagtaattcGaagtagttcctccaaactag	12	11	9	9	1	1	2	1	1	0	1	5	3	4	2	3	0	1	3	3	0	5	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:15381369G>A	uc004cwt.2	-	1	630	c.163C>T	c.(163-165)Cga>Tga	p.R55*	FIGF_uc022bth.1_Non-coding_Transcript	NM_004469	NP_004460	O43915	VEGFD_HUMAN	Homo sapiens c-fos induced growth factor (vascular endothelial growth factor D) (FIGF), mRNA.	55					angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					TGAGTAATTCGAAGTAGTTCC	0.453													A	15381369	G	A	15381369	4	1	120	1	0	0	0	0	0	1	0	0	5938	1066	37	1	925	1	FIGF	23	15381369	Nonsense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	13634734	15381369	139889191	63	8120											
KIAA1210	57481	broad.mit.edu	37	chrX	118221675	118221675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagccattttctctagtCgtgaggtcatttcctgaact	9	14	7	11	1	2	2	1	2	1	0	5	2	3	2	2	1	3	0	2	1	3	4			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:118221675C>T	uc004era.4	-	10	3518	c.3518G>A	c.(3517-3519)cGa>cAa	p.R1173Q		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1173										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTTCTCTAGTCGTGAGGTCAT	0.468													T	118221675	C	T	118221675	3	4	120	1	0	0	0	0	1	0	0	0	8272	884	31	1	1627	1	KIAA1210	23	118221675	Missense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	102840306	118221675	37048885	64	8121											
FLNA	2316	broad.mit.edu	37	chrX	153588591	153588591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctcaatggtcagctccGcgctgcccgcgctcgagcag	7	7	12	15	5	2	1	2	0	1	1	5	2	3	1	2	1	3	4	2	1	1	0			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:153588591G>A	uc004fkk.2	-	21	3821	c.3572C>T	c.(3571-3573)gCg>gTg	p.A1191V	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.A1191V	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1191					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCAGCTCCGCGCTGCCCGC	0.642											OREG0003593	type=REGULATORY REGION|Gene=FLNA|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	153588591	G	A	153588591	3	1	120	1	0	0	0	0	1	0	0	0	5982	1087	38	1	4479	1	FLNA	23	153588591	Missense_Mutation	SNP	G	TCGA-12-3650-01A-01D-1495-08	35366916	153588591	1681969	65	8122											
RAB39B	116442	broad.mit.edu	37	chrX	154490213	154490213	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccccttttaaccagctCatatatgtctcttgtcaggt	7	15	5	14	0	3	0	2	0	1	0	5	0	4	0	4	1	2	1	4	1	3	5			TCGA-12-3650-01A-01D-1495-08	TCGA-12-3650-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8b1d52e2-489b-4972-9bef-1690ccd2bac9	53b6dbd6-219e-44c1-bc92-fcb93616394a	g.chrX:154490213C>A	uc004fne.3	-	1	796	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	173					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTAACCAGCTCATATATGTCT	0.473													A	154490213	C	A	154490213	4	1	120	1	0	0	0	0	0	1	0	0	13018	835	29	4	128	4	RAB39B	23	154490213	Nonsense_Mutation	SNP	C	TCGA-12-3650-01A-01D-1495-08	901622	154490213	780347	66	8123											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcccactgatctctGcctcccggtggctgctgaag	5	10	10	16	1	1	2	0	2	1	0	5	2	4	2	4	2	2	2	4	2	1	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:3394457G>A	uc001akg.4	+	10	1740	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A210T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A210T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A202T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	498					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622													A	3394457	G	A	3394457	3	1	121	1	0	0	0	0	1	0	0	0	902	1319	46	2	1530	2	ARHGEF16	1	3394457	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		3394457	245856164	1	8124											
ADCY10	55811	broad.mit.edu	37	chr1	167814945	167814945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcttcttctaaaaagcGggcacatttcaagtgcatgg	11	11	10	9	1	4	0	1	0	3	0	4	0	4	0	0	3	2	3	0	3	4	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:167814945G>A	uc001ger.3	-	20	3161	c.2863C>T	c.(2863-2865)Cgc>Tgc	p.R955C	ADCY10_uc010plj.2_Missense_Mutation_p.R802C|ADCY10_uc009wvk.3_Missense_Mutation_p.R863C|ADCY10_uc009wvl.3_Missense_Mutation_p.R954C	NM_018417	NP_001161221	Q96PN6	ADCYA_HUMAN	Homo sapiens adenylate cyclase 10 (soluble) (ADCY10), transcript variant 1, mRNA.	955					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TCTAAAAAGCGGGCACATTTC	0.488													A	167814945	G	A	167814945	3	1	121	1	0	0	0	0	1	0	0	0	293	1116	39	1	2021	1	ADCY10	1	167814945	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	164420488	167814945	81435676	2	8125											
KIAA1614	57710	broad.mit.edu	37	chr1	180904433	180904433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcgaagccgagttccGtcacctggagcggctgcagc	6	5	14	16	6	1	0	1	0	0	0	2	3	2	1	4	2	4	3	4	2	1	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:180904433G>A	uc001gok.2	+	4	1455	c.1388G>A	c.(1387-1389)cGt>cAt	p.R463H	KIAA1614_uc001gol.1_Missense_Mutation_p.R84H|KIAA1614_uc001gom.1_Intron	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	463										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GCCGAGTTCCGTCACCTGGAG	0.731													A	180904433	G	A	180904433	3	1	121	1	0	0	0	0	1	0	0	0	8306	1145	40	1	1406	1	KIAA1614	1	180904433	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	13089488	180904433	68346188	3	8126											
GLUL	2752	broad.mit.edu	37	chr1	182356407	182356407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaagtactagagccatCgaaattccactcaggcaact	14	9	7	11	1	1	1	1	0	0	1	3	2	2	1	2	1	3	3	2	1	6	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:182356407C>T	uc001gpa.2	-	2	430	c.187G>A	c.(187-189)Gat>Aat	p.D63N	GLUL_uc010pnt.2_5'Flank|GLUL_uc001gpb.2_Missense_Mutation_p.D63N|GLUL_uc001gpc.2_Missense_Mutation_p.D63N|GLUL_uc001gpd.2_Missense_Mutation_p.D63N	NM_001033056	NP_002056	P15104	GLNA_HUMAN	Homo sapiens glutamate-ammonia ligase (GLUL), transcript variant 3, mRNA.	63					cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CTAGAGCCATCGAAATTCCAC	0.473													T	182356407	C	T	182356407	3	4	121	1	0	0	0	0	1	0	0	0	6534	884	31	1	954	1	GLUL	1	182356407	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	1451974	182356407	66894214	4	8127											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220359030	220359030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccattaaagtctgagtgatGtttctaaggcaagaaaatgg	14	12	10	5	0	2	3	0	2	2	1	3	3	3	3	1	2	0	2	1	2	6	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:220359030G>A	uc010puk.1	-	17	1997	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	RAB3GAP2_uc021pjf.1_Silent_p.N611N|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Silent_p.N191N	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	611					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTGAGTGATGTTTCTAAGGC	0.333													A	220359030	G	A	220359030	2	1	121	1	0	0	0	0	0	0	0	1	13024	1368	48	2		2	RAB3GAP2	1	220359030	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	38002623	220359030	28891591	5	8128											
HLX	3142	broad.mit.edu	37	chr1	221057616	221057616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaggacaaggacaaggAggctggcgagaagccatcag	16	2	14	9	1	1	1	1	0	0	1	1	5	1	4	2	5	1	1	2	5	5	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:221057616A>G	uc001hmv.4	+	3	1494	c.1037A>G	c.(1036-1038)gAg>gGg	p.E346G		NM_021958	NP_068777	Q14774	HLX_HUMAN	Homo sapiens H2.0-like homeobox (HLX), mRNA.	346					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		AAGGACAAGGAGGCTGGCGAG	0.667													G	221057616	A	G	221057616	3	3	121	1	0	0	0	0	1	0	0	0	7271	304	11	3	1051	3	HLX	1	221057616	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	698586	221057616	28193005	6	8129											
HHIPL2	79802	broad.mit.edu	37	chr1	222705452	222705452	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgcaaagccataagtcGactagacaaaaaataaaccc	18	7	5	11	1	0	1	0	0	0	1	2	2	1	1	3	0	3	1	3	0	8	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:222705452G>A	uc001hnh.1	-	6	1636	c.1578_splice	c.e6-1	p.G526_splice		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	526					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCCATAAGTCGACTAGACAAA	0.438													A	222705452	G	A	222705452	4	1	121	1	0	0	0	0	0	1	0	0	7149	1072	37	1	611	1	HHIPL2	1	222705452	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	1647836	222705452	26545169	7	8130											
RYR2	6262	broad.mit.edu	37	chr1	237787140	237787151	+	In_Frame_Del	DEL	GATTTCCATGAA	GATTTCCATGAA	-																															aaattcgtgaccaactattgGatttccatgaagatttgatg																										TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237787140_237787151delGATTTCCATGAA	uc001hyl.1	+	38	6112_6123	c.5992_6003delGATTTCCATGAA	c.(5992-6003)gatttccatgaadel	p.DFHE1998del		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1998	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAACTATTGGATTTCCATGAAGATTTGATGA	0.307													-	237787151	GATTTCCATGAA	-	237787140	7	5	121	1	0	1	0	1	0	0	0	0	13860	1174	41	0	6146	0	RYR2	1	237787140	In_Frame_Del	DEL	GATTTCCATGAA	TCGA-12-3652-01A-01D-1495-08	15081688	237787140	11463481	8	8131											
RYR2	6262	broad.mit.edu	37	chr1	237947552	237947552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacgtggtcaacgaaggCggagagaaagagaagatgga	15	6	16	4	3	1	4	1	1	0	3	1	9	1	6	0	4	1	0	0	4	4	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr1:237947552C>T	uc001hyl.1	+	89	12660	c.12540C>T	c.(12538-12540)ggC>ggT	p.G4180G	RYR2_uc010pya.2_Silent_p.G595G	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4180					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAACGAAGGCGGAGAGAAAG	0.502													T	237947552	C	T	237947552	2	4	121	1	0	0	0	0	0	0	0	1	13860	755	27	1		1	RYR2	1	237947552	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	160412	237947552	11303069	9	8132											
ALMS1	7840	broad.mit.edu	37	chr2	73677648	73677648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgataccaattttaccctctActttctactcacacacagag	12	13	3	13	0	3	2	1	1	2	1	3	2	3	2	2	0	4	0	2	0	5	6			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:73677648A>G	uc002sje.1	+	7	4102	c.3991A>G	c.(3991-3993)Act>Gct	p.T1331A	ALMS1_uc002sjf.1_Missense_Mutation_p.T1289A|ALMS1_uc002sjg.3_Missense_Mutation_p.T719A|ALMS1_uc002sjh.1_Missense_Mutation_p.T719A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	1331	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TTTACCCTCTACTTTCTACTC	0.453													G	73677648	A	G	73677648	3	3	121	1	0	0	0	0	1	0	0	0	535	391	14	3	4021	3	ALMS1	2	73677648	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08		73677648	169521725	10	8133											
INPP1	3628	broad.mit.edu	37	chr2	191236128	191236128	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgcagagacgcatacctaGaggaactctaaccccggtgt	11	7	10	13	2	1	2	0	0	1	2	1	4	1	3	4	2	4	2	4	2	4	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr2:191236128G>C	uc002ury.4	+	6	1900	c.1200G>C	c.(1198-1200)taG>taC	p.*400Y	INPP1_uc010fsb.3_Nonstop_Mutation_p.*400Y|INPP1_uc002urx.4_Nonstop_Mutation_p.*400Y	NM_001128928	NP_002185	P49441	INPP_HUMAN	Homo sapiens inositol polyphosphate-1-phosphatase (INPP1), transcript variant 1, mRNA.	0					signal transduction		inositol-1,4-bisphosphate 1-phosphatase activity|metal ion binding			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.000286)|Epithelial(96;0.0186)|all cancers(119;0.057)		Lithium(DB01356)	CGCATACCTAGAGGAACTCTA	0.493													C	191236128	G	C	191236128	4	2	121	1	0	0	0	0	0	0	0	0	7809	937	33	4	1218	4	INPP1	2	191236128	Nonstop_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	117558480	191236128	51963245	11	8134											
CAV3	859	broad.mit.edu	37	chr3	8787341	8787341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtccacgctgctgggcGtcccactggccctgctctgg	2	11	13	15	2	1	0	0	0	1	0	3	0	3	0	3	3	2	4	3	3	0	1	rs112626848		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:8787341G>A	uc003bra.3	+	1	321	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	C3orf32_uc003bqz.3_5'Flank|CAV3_uc003brb.3_Missense_Mutation_p.V82I	NM_001234	NP_001225	P56539	CAV3_HUMAN	Homo sapiens caveolin 3 (CAV3), transcript variant 2, mRNA.	82	Required for interaction with DAG1.				cell growth|elevation of cytosolic calcium ion concentration|muscle organ development|negative regulation of cardiac muscle hypertrophy|negative regulation of cell size|negative regulation of MAP kinase activity|negative regulation of sarcomere organization|positive regulation of microtubule polymerization|regulation of skeletal muscle contraction|regulation of ventricular cardiomyocyte membrane repolarization|T-tubule organization	caveola|dystrophin-associated glycoprotein complex|Golgi membrane|neuromuscular junction|T-tubule	protein C-terminus binding|protein complex binding|protein complex scaffold|sodium channel regulator activity			breast(1)|kidney(2)|large_intestine(4)|lung(3)|prostate(1)	11						GCTGCTGGGCGTCCCACTGGC	0.587													A	8787341	G	A	8787341	3	1	121	1	0	0	0	0	1	0	0	0	2721	1145	40	1	250	1	CAV3	3	8787341	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		8787341	189235089	12	8135											
RPL32	6161	broad.mit.edu	37	chr3	12880946	12880946	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttttttgttgcttccAtaaccaatgttgggcatcaa	8	19	7	7	0	1	0	1	0	0	0	2	0	2	0	2	1	2	5	2	1	3	8			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12880946A>G	uc003bxl.3	-	1	393	c.180T>C	c.(178-180)taT>taC	p.Y60Y	RPL32_uc003bxm.3_Silent_p.Y60Y|RPL32_uc003bxn.3_Silent_p.Y60Y	NM_001007074	NP_001007075	P62910	RL32_HUMAN	Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.	60					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGTTGCTTCCATAACCAATGT	0.483													G	12880946	A	G	12880946	2	3	121	1	0	0	0	0	0	0	0	1	13673	224	8	3		3	RPL32	3	12880946	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	4093605	12880946	185141484	13	8136											
IQSEC1	9922	broad.mit.edu	37	chr3	12977752	12977752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccgcatccagggccGgtgcctcctcagtgtgcagg	4	6	14	17	4	1	0	1	0	0	0	3	0	3	0	6	3	2	2	6	3	0	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:12977752G>A	uc003bxt.2	-	2	815	c.806C>T	c.(805-807)cCg>cTg	p.P269L	IQSEC1_uc003bxu.3_Missense_Mutation_p.P147L|IQSEC1_uc011auw.1_Missense_Mutation_p.P255L	NM_014869	NP_055684	Q6DN90	IQEC1_HUMAN	Homo sapiens IQ motif and Sec7 domain 1 (IQSEC1), transcript variant 2, mRNA.	269					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCCAGGGCCGGTGCCTCCTC	0.642													A	12977752	G	A	12977752	3	1	121	1	0	0	0	0	1	0	0	0	7875	1116	39	1	2678	1	IQSEC1	3	12977752	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	96806	12977752	185044678	14	8137											
ZNF385D	79750	broad.mit.edu	37	chr3	21606168	21606168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttattacagctttctgaatCgggtccatctgtaatgagaa	11	15	8	7	1	2	2	0	2	2	1	4	3	3	2	1	1	2	2	1	1	5	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:21606168C>T	uc003cce.3	-	2	582	c.174G>A	c.(172-174)ccG>ccA	p.P58P	ZNF385D_uc010hfb.1_Non-coding_Transcript	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.	58						nucleus	nucleic acid binding|zinc ion binding	p.P58T(1)		NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTTCTGAATCGGGTCCATCT	0.358													T	21606168	C	T	21606168	2	4	121	1	0	0	0	0	0	0	0	1	17979	871	31	1		1	ZNF385D	3	21606168	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	8628416	21606168	176416262	15	8138											
PRR23A	729627	broad.mit.edu	37	chr3	138724917	138724917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgcagggcacagcccGcggccaggaccactatggag	10	2	14	15	3	0	0	0	0	0	0	0	2	0	2	3	4	1	3	3	4	1	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:138724917G>A	uc011bms.2	-	0	194	c.194C>T	c.(193-195)gCg>gTg	p.A65V		NM_001134659	NP_001128131	A6NEV1	PR23A_HUMAN	Homo sapiens proline rich 23A (PRR23A), mRNA.	65										endometrium(3)|kidney(1)|lung(7)	11						GGCACAGCCCGCGGCCAGGAC	0.721													A	138724917	G	A	138724917	3	1	121	1	0	0	0	0	1	0	0	0	12680	1087	38	1	610	1	PRR23A	3	138724917	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	117118749	138724917	59297513	16	8139											
MUC4	4585	broad.mit.edu	37	chr3	195515160	195515160	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggcgtgacctgtggaTgctgaggaagtgtcagtgac	8	9	18	6	1	1	3	1	3	0	0	1	6	1	5	1	4	1	1	1	4	1	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr3:195515160T>C	uc021xjp.1	-	1	3447	c.3291A>G	c.(3289-3291)gcA>gcG	p.A1097A	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACCTGTGGATGCTGAGGAAG	0.572													C	195515160	T	C	195515160	2	2	121	1	0	0	0	0	0	0	0	1	10054	1451	51	3		3	MUC4	3	195515160	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08	56790243	195515160	2507270	17	8140											
MAN2B2	23324	broad.mit.edu	37	chr4	6578364	6578364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggaagagctggcccgCggccagcagcgccggttcat	6	6	17	12	4	1	1	1	0	0	1	1	2	1	2	3	5	3	3	3	5	1	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:6578364C>T	uc003gjf.1	+	1	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_uc003gje.1_Silent_p.R66R|MAN2B2_uc011bwf.1_Silent_p.R66R	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	66					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627													T	6578364	C	T	6578364	2	4	121	1	0	0	0	0	0	0	0	1	9292	755	27	1		1	MAN2B2	4	6578364	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08		6578364	184575912	18	8141											
PCDH7	5099	broad.mit.edu	37	chr4	30726111	30726111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaccaggccgtacaaGatctaccaccagccaacaca	18	3	5	15	1	1	1	0	0	1	1	1	1	1	1	5	1	5	1	5	1	6	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:30726111G>T	uc003gsk.1	+	0	4075	c.3067G>T	c.(3067-3069)Gat>Tat	p.D1023Y	PCDH7_uc011bxx.2_Missense_Mutation_p.D1023Y|PCDH7_uc021xnd.1_Missense_Mutation_p.D1023Y|PCDH7_uc021xnc.1_Missense_Mutation_p.D1023Y	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	1023					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGCCGTACAAGATCTACCACC	0.468													T	30726111	G	T	30726111	3	4	121	1	0	0	0	0	1	0	0	0	11592	942	33	4	3069	4	PCDH7	4	30726111	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	24147747	30726111	160428165	19	8142											
KLB	152831	broad.mit.edu	37	chr4	39435838	39435838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttcttttaggctcactcGaaagtttggcataactacaa	11	15	6	9	1	3	0	1	0	2	0	4	1	3	0	0	2	2	3	0	2	5	7			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:39435838G>A	uc003gua.3	+	1	931	c.834G>A	c.(832-834)tcG>tcA	p.S278S	KLB_uc011byj.2_Silent_p.S278S	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	278	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						AGGCTCACTCGAAAGTTTGGC	0.413													A	39435838	G	A	39435838	2	1	121	1	0	0	0	0	0	0	0	1	8390	1045	37	1		1	KLB	4	39435838	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	8709727	39435838	151718438	20	8143											
NPFFR2	10886	broad.mit.edu	37	chr4	73012972	73012972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcccctctccctcattGtcatcatgtatggaaggatt	7	14	8	12	0	4	0	3	0	1	0	6	2	5	2	3	3	0	2	3	3	2	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:73012972G>T	uc003hgg.2	+	3	1110	c.1012G>T	c.(1012-1014)Gtc>Ttc	p.V338F	NPFFR2_uc010iig.2_Missense_Mutation_p.V120F|NPFFR2_uc003hgi.2_Missense_Mutation_p.V239F|NPFFR2_uc003hgh.2_Missense_Mutation_p.V236F	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	338					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CTCCCTCATTGTCATCATGTA	0.517													T	73012972	G	T	73012972	3	4	121	1	0	0	0	0	1	0	0	0	10654	1377	48	4	1032	4	NPFFR2	4	73012972	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	33577134	73012972	118141304	21	8144											
FAM190A	7117	broad.mit.edu	37	chr4	91760137	91760137	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgtctctgtcttcttcaGtttcggcttatcgaatttct	4	20	7	10	3	5	0	1	0	4	0	8	1	5	0	0	1	1	2	0	1	2	6			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:91760137G>C	uc003hsv.4	+						FAM190A_uc010ikv.2_Intron|FAM190A_uc003hsx.3_Intron	NM_001145065	NP_001138537	Q9C0I3	F190A_HUMAN	Homo sapiens family with sequence similarity 190, member A (FAM190A), transcript variant 1, mRNA.											NS(2)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22						GTCTTCTTCAGTTTCGGCTTA	0.522													C	91760137	G	C	91760137	3	2	121	1	0	0	0	0	1	0	0	0	5568	1020	36	4		4	FAM190A	4	91760137	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	18747165	91760137	99394139	22	8145											
CFI	3426	broad.mit.edu	37	chr4	110663746	110663746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaagtgaaaagactctttCgttatctaaacaaagtgaga	16	11	8	6	1	2	4	0	3	2	2	3	5	2	4	0	0	1	1	0	0	7	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:110663746C>T	uc011cft.2	-	12	1667	c.1459G>A	c.(1459-1461)Gaa>Aaa	p.E487K	CFI_uc003hzq.3_Missense_Mutation_p.E276K|CFI_uc003hzr.4_Missense_Mutation_p.E479K	NM_000204	NP_000195	P05156	CFAI_HUMAN	Homo sapiens complement factor I (CFI), mRNA.	479	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular space|membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|skin(2)|stomach(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000331)		AAGACTCTTTCGTTATCTAAA	0.338													T	110663746	C	T	110663746	3	4	121	1	0	0	0	0	1	0	0	0	3319	893	31	1	324	1	CFI	4	110663746	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	18903609	110663746	80490530	23	8146											
FAT1	2195	broad.mit.edu	37	chr4	187541102	187541102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgatgctgtagaacactTtcaggccttccgggctgtta	7	13	11	10	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr4:187541102T>A	uc003izf.3	-	9	6826	c.6638A>T	c.(6637-6639)aAa>aTa	p.K2213I		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	2213	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GTAGAACACTTTCAGGCCTTC	0.498										HNSCC(5;0.00058)			A	187541102	T	A	187541102	3	1	121	1	0	0	0	0	1	0	0	0	5738	1841	64	5	7200	5	FAT1	4	187541102	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	76877356	187541102	3613174	24	8147											
CDH9	1007	broad.mit.edu	37	chr5	26902769	26902769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccaggtgtaagaatcGtggatcagggtgagtgttac	10	10	15	6	1	1	2	1	1	0	1	3	3	2	3	1	4	1	2	1	4	3	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:26902769G>A	uc003jgs.1	-	6	1238	c.1069C>T	c.(1069-1071)Cga>Tga	p.R357*		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	357	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						TGTAAGAATCGTGGATCAGGG	0.358													A	26902769	G	A	26902769	4	1	121	1	0	0	0	0	0	1	0	0	3147	1153	40	1	1324	1	CDH9	5	26902769	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		26902769	154012491	25	8148											
MTX3	345778	broad.mit.edu	37	chr5	79284387	79284387	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttccaggcaggatcaaactCaaaggaaaaggaatttgtga	16	8	10	7	0	2	1	2	1	0	0	3	4	3	4	1	4	1	1	1	4	5	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:79284387C>G	uc010jag.3	-	4	429	c.402G>C	c.(400-402)ttG>ttC	p.L134F	MTX3_uc010jah.3_Missense_Mutation_p.L134F|MTX3_uc003kge.4_Missense_Mutation_p.L73F|MTX3_uc003kgf.1_5'Flank	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	134					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		GGATCAAACTCAAAGGAAAAG	0.453													G	79284387	C	G	79284387	3	3	121	1	0	0	0	0	1	0	0	0	10045	825	29	4	556	4	MTX3	5	79284387	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	52381618	79284387	101630873	26	8149											
GPR98	84059	broad.mit.edu	37	chr5	89943466	89943466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcctgttgaaaaaggAgaaacgctcatttttgaggt	12	14	9	6	1	2	3	2	2	0	1	3	4	3	3	1	2	1	2	1	2	3	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:89943466A>G	uc003kju.3	+	16	3270	c.3174A>G	c.(3172-3174)ggA>ggG	p.G1058G	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1058	Calx-beta 8.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGAAAAAGGAGAAACGCTCA	0.413													G	89943466	A	G	89943466	2	3	121	1	0	0	0	0	0	0	0	1	6776	291	11	3		3	GPR98	5	89943466	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	10659079	89943466	90971794	27	8150											
PCDHAC2	56137	broad.mit.edu	37	chr5	140256668	140256668	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgccggcgtgccgcc	4	5	16	16	8	0	1	0	1	0	0	1	2	1	1	4	2	3	2	4	2	0	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr5:140256668G>A	uc003lic.2	+	0	1738	c.1611G>A	c.(1609-1611)gcG>gcA	p.A537A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A537A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCCG	0.687													A	140256668	G	A	140256668	2	1	121	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140256668	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	50313202	140256668	40658592	28	8151											
SIM1	6492	broad.mit.edu	37	chr6	100838896	100838896	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgctcagtacgatatcGgtcacctgattcactggccg	9	11	9	12	3	3	1	3	1	0	0	4	2	3	1	2	2	3	2	2	2	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:100838896G>A	uc003pqj.4	-	10	2109	c.1642C>T	c.(1642-1644)Cga>Tga	p.R548*	SIM1_uc021zdg.1_Nonsense_Mutation_p.R548*|SIM1_uc010kcu.3_Nonsense_Mutation_p.R548*	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	548	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTACGATATCGGTCACCTGAT	0.428													A	100838896	G	A	100838896	4	1	121	1	0	0	0	0	0	1	0	0	14417	1124	39	1	662	1	SIM1	6	100838896	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		100838896	70276171	29	8152											
RFX6	222546	broad.mit.edu	37	chr6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaactctttccagatgCgagtaaagctgctttcactg	12	13	7	9	1	2	1	1	0	1	1	3	2	3	1	1	0	4	3	1	0	5	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:117246619C>T	uc003pxm.3	+	15	1745	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	561					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.A561V(6)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													T	117246619	C	T	117246619	3	4	121	1	0	0	0	0	1	0	0	0	13355	768	27	1	1744	1	RFX6	6	117246619	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	16407723	117246619	53868448	30	8153											
SHPRH	257218	broad.mit.edu	37	chr6	146215353	146215353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaagagcttttgaaataAtatctaatacatcttgccac	15	13	5	8	0	2	2	0	1	2	1	2	2	2	2	1	0	3	2	1	0	6	8			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:146215353A>G	uc003qlf.3	-	26	5027	c.4628T>C	c.(4627-4629)aTt>aCt	p.I1543T	SHPRH_uc003qle.3_Missense_Mutation_p.I1547T	NM_001042683	NP_001036148	Q149N8	SHPRH_HUMAN	Homo sapiens SNF2 histone linker PHD RING helicase (SHPRH), transcript variant 1, mRNA.	1543	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TTTTGAAATAATATCTAATAC	0.313													G	146215353	A	G	146215353	3	3	121	1	0	0	0	0	1	0	0	0	14385	101	4	3	456	3	SHPRH	6	146215353	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	28968734	146215353	24899714	31	8154											
SMOC2	64094	broad.mit.edu	37	chr6	169064764	169064764	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgctagcccccagaggTcatgctgaaagtacgtctaa	10	10	9	12	1	2	2	1	1	1	1	3	2	3	2	3	1	4	3	3	1	4	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr6:169064764T>C	uc003qwr.2	+	11	1549	c.1329T>C	c.(1327-1329)ggT>ggC	p.G443G	SMOC2_uc003qws.2_Silent_p.G432G|SMOC2_uc011egu.2_Silent_p.G109G	NM_022138	NP_071421	Q9H3U7	SMOC2_HUMAN	Homo sapiens SPARC related modular calcium binding 2 (SMOC2), transcript variant 1, mRNA.	432					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCCCCAGAGGTCATGCTGAAA	0.299													C	169064764	T	C	169064764	2	2	121	1	0	0	0	0	0	0	0	1	14896	1654	58	3		3	SMOC2	6	169064764	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08	22849411	169064764	2050303	32	8155											
NOD1	10392	broad.mit.edu	37	chr7	30492365	30492365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgacccctgcgtctagcCggcccgtggcccagaggctc	5	8	12	16	3	1	2	0	1	1	1	2	2	1	2	5	3	2	1	5	3	1	2	rs139576372		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:30492365C>T	uc003tav.3	-	5	1191	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	NOD1_uc010kvs.2_Intron	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	223	NACHT.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						TGCGTCTAGCCGGCCCGTGGC	0.577													T	30492365	C	T	30492365	3	4	121	1	0	0	0	0	1	0	0	0	10592	652	23	1	2229	1	NOD1	7	30492365	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		30492365	128646298	33	8156											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	10	8	8	15	3	2	1	0	0	2	1	5	3	4	1	5	1	2	1	5	1	3	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:55221711G>C	uc003tqk.3	+	6	1001	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_uc003tqh.3_Missense_Mutation_p.R252P|EGFR_uc003tqi.3_Missense_Mutation_p.R252P|EGFR_uc003tqj.3_Missense_Mutation_p.R252P|EGFR_uc022adm.1_Missense_Mutation_p.R252P|EGFR_uc010kzg.2_Missense_Mutation_p.R207P|EGFR_uc022adn.1_Missense_Mutation_p.R207P|EGFR_uc011kco.2_Missense_Mutation_p.R199P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(1)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55221711	G	C	55221711	3	2	121	1	0	0	0	0	1	0	0	0	5006	1087	38	4	781	4	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	24729346	55221711	103916952	34	8157											
WNT2	7472	broad.mit.edu	37	chr7	116960680	116960680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggtgttgcaattccagCggtgctggcggaactggtgc	6	9	16	10	2	0	0	0	0	0	0	1	1	1	1	2	5	5	3	2	5	2	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:116960680C>T	uc003viz.3	-	1	551	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT2_uc003vja.3_Silent_p.P9P	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	84					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GCAATTCCAGCGGTGCTGGCG	0.597													T	116960680	C	T	116960680	3	4	121	1	0	0	0	0	1	0	0	0	17488	768	27	1	847	1	WNT2	7	116960680	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	61738969	116960680	42177983	35	8158											
MGAM	8972	broad.mit.edu	37	chr7	141734061	141734061	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctgcttttgtttcaGgaatcctggatgggtacctg	6	16	11	8	0	1	1	1	1	0	0	3	3	3	3	3	3	2	3	3	3	2	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr7:141734061G>T	uc003vwy.3	+	15	1724	c.1670_splice	c.e15-1	p.R557_splice		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	557	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTTTGTTTCAGGAATCCTGGA	0.478													T	141734061	G	T	141734061	5	4	121	1	0	0	0	0	0	0	1	0	9616	1014	35	4	1723	4	MGAM	7	141734061	Splice_Site	SNP	G	TCGA-12-3652-01A-01D-1495-08	24773381	141734061	17404602	36	8159											
FAM135B	51059	broad.mit.edu	37	chr8	139164563	139164563	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtggagggcatgtcttcGaacaaacgggtgcaagactt	10	8	14	9	3	1	1	0	0	1	1	2	3	1	2	1	4	3	2	1	4	3	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr8:139164563G>A	uc003yuy.3	-	12	2326	c.2155C>T	c.(2155-2157)Cga>Tga	p.R719*	FAM135B_uc003yux.3_Nonsense_Mutation_p.R620*|FAM135B_uc003yuz.3_Non-coding_Transcript|FAM135B_uc003yva.3_Nonsense_Mutation_p.R281*|FAM135B_uc003yvb.3_Nonsense_Mutation_p.R281*	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	719										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GCATGTCTTCGAACAAACGGG	0.567										HNSCC(54;0.14)			A	139164563	G	A	139164563	4	1	121	1	0	0	0	0	0	1	0	0	5494	1066	37	1	2097	1	FAM135B	8	139164563	Nonsense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		139164563	7199459	37	8160											
BNC2	54796	broad.mit.edu	37	chr9	16419622	16419622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttggtcaacagtttacGatgtaggtttatgttggcac	8	17	10	6	1	2	0	1	0	1	0	2	1	2	0	0	3	2	5	0	3	4	8			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:16419622G>A	uc003zml.3	-	6	2805	c.2665C>T	c.(2665-2667)Cgt>Tgt	p.R889C	BNC2_uc011lmw.2_Missense_Mutation_p.R794C|BNC2_uc003zmm.3_3'UTR|BNC2_uc011lmv.2_3'UTR|BNC2_uc003zmj.3_3'UTR|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R676C	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	889					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AACAGTTTACGATGTAGGTTT	0.488													A	16419622	G	A	16419622	3	1	121	1	0	0	0	0	1	0	0	0	1481	1058	37	1	638	1	BNC2	9	16419622	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		16419622	124793809	38	8161											
LINGO2	158038	broad.mit.edu	37	chr9	27950347	27950347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccttttaggcggagggaaCgcaggttaaagagattgttg	10	11	15	5	2	0	1	0	0	0	1	0	4	0	3	1	4	2	3	1	4	4	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:27950347C>T	uc003zqv.1	-	6	973	c.323G>A	c.(322-324)cGt>cAt	p.R108H	LINGO2_uc010mjf.1_Missense_Mutation_p.R108H|LINGO2_uc003zqu.1_Missense_Mutation_p.R108H|LINGO2_uc022bfc.1_Missense_Mutation_p.R108H	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	108						integral to membrane		p.R108H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCGGAGGGAACGCAGGTTAAA	0.438													T	27950347	C	T	27950347	3	4	121	1	0	0	0	0	1	0	0	0	8876	536	19	1	1501	1	LINGO2	9	27950347	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	11530725	27950347	113263084	39	8162											
WNK2	65268	broad.mit.edu	37	chr9	96051416	96051416	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttgcactccagctccAgaggctgcctcaaccaggga	9	6	10	16	0	1	1	1	0	0	1	3	2	3	2	5	2	4	4	5	2	1	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr9:96051416A>G	uc004ati.1	+	19	4491	c.4491A>G	c.(4489-4491)ccA>ccG	p.P1497P	WNK2_uc011lud.1_Silent_p.P1460P|WNK2_uc004atj.3_Silent_p.P1460P|WNK2_uc004atk.3_Silent_p.P1097P|WNK2_uc004atl.1_Silent_p.P55P	NM_006648	NP_006639	Q9Y3S1	WNK2_HUMAN	Homo sapiens WNK lysine deficient protein kinase 2 (WNK2), mRNA.	1497					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CTCCAGCTCCAGAGGCTGCCT	0.692													G	96051416	A	G	96051416	2	3	121	1	0	0	0	0	0	0	0	1	17480	175	7	3		3	WNK2	9	96051416	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	68101069	96051416	45162015	40	8163											
OR9G9	504191	broad.mit.edu	37	chr11	56467944	56467944	+	Frame_Shift_Del	DEL	C	C	-																															ggaatgcagctgggcctcttCgtggtgttcctgggcgtgta																										TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56467944delC	uc010rjn.2	+	0	81	c.81delC	c.(79-81)ttcfs	p.F27fs	OR8U8_uc001nit.2_Intron	NM_001013358	NP_001013376	Q8NH87	OR9G1_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 9 (OR9G9), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity										TGGGCCTCTTCGTGGTGTTCC	0.502													-	56467944	C	-	56467944	7	5	121	1	0	1	0	1	0	0	0	0	11328	883	31	0	83	0	OR9G9	11	56467944	Frame_Shift_Del	DEL	C	TCGA-12-3652-01A-01D-1495-08		56467944	78538572	41	8164											
LRRC55	219527	broad.mit.edu	37	chr11	56949854	56949854	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcttggcacacttggacCtgagctacaacaatttcagc	11	9	9	12	1	1	1	1	1	0	0	1	2	1	2	1	2	5	3	1	2	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:56949854C>T	uc001njl.2	+	0	634	c.487C>T	c.(487-489)Ctg>Ttg	p.L163L		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	133						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						ACACTTGGACCTGAGCTACAA	0.582													T	56949854	C	T	56949854	2	4	121	1	0	0	0	0	0	0	0	1	9081	680	24	2		2	LRRC55	11	56949854	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	481910	56949854	78056662	42	8165											
OR5AN1	390195	broad.mit.edu	37	chr11	59132440	59132440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttcaactccacttctGtgggtctaatgtcatcagac	8	15	7	11	0	5	1	3	0	2	1	6	1	6	1	1	1	2	1	1	1	2	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:59132440G>T	uc010rks.2	+	0	509	c.509G>T	c.(508-510)tGt>tTt	p.C170F		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CTCCACTTCTGTGGGTCTAAT	0.443													T	59132440	G	T	59132440	3	4	121	1	0	0	0	0	1	0	0	0	11219	1377	48	4	511	4	OR5AN1	11	59132440	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	2182586	59132440	75874076	43	8166											
MMP13	4322	broad.mit.edu	37	chr11	102822878	102822878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagtggccgaactcatgcGcagcaacaagaaacaagttg	15	5	12	9	2	1	1	1	0	0	1	1	3	1	2	1	2	5	3	1	2	5	1	rs147544761		TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr11:102822878G>A	uc001phl.3	-	4	691	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	221					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GAACTCATGCGCAGCAACAAG	0.423													A	102822878	G	A	102822878	3	1	121	1	0	0	0	0	1	0	0	0	9727	1087	38	1	777	1	MMP13	11	102822878	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	43690438	102822878	32183638	44	8167											
GRIN2B	2904	broad.mit.edu	37	chr12	13724856	13724856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgccgttgggcacggTcccaaagcggaaagggggtg	7	7	18	9	3	0	0	0	0	0	0	1	1	1	1	2	5	3	3	2	5	2	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:13724856T>C	uc001rbt.2	-	9	2232	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	685					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGGGCACGGTCCCAAAGCGG	0.493													C	13724856	T	C	13724856	3	2	121	1	0	0	0	0	1	0	0	0	6835	1667	58	3	2417	3	GRIN2B	12	13724856	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08		13724856	120127039	45	8168											
NR4A1	3164	broad.mit.edu	37	chr12	52448556	52448556	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgcccagcttccagccGccccagctctctccctggga	5	7	8	21	2	1	0	0	0	1	0	5	1	4	1	7	1	3	2	7	1	0	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:52448556G>T	uc001rzs.3	+	2	763	c.444G>T	c.(442-444)ccG>ccT	p.P148P	NR4A1_uc010sno.2_Silent_p.P161P|NR4A1_uc001rzr.2_Silent_p.P148P|NR4A1_uc009zmb.2_Silent_p.P148P|NR4A1_uc001rzt.3_Silent_p.P148P|NR4A1_uc009zmc.3_5'Flank	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	148					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCTTCCAGCCGCCCCAGCTCT	0.677													T	52448556	G	T	52448556	2	4	121	1	0	0	0	0	0	0	0	1	10708	1074	38	4		4	NR4A1	12	52448556	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	38723700	52448556	81403339	46	8169											
ESYT1	23344	broad.mit.edu	37	chr12	56536179	56536179	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacactcagcagtggtcaGgggcaggtgctactgagagc	9	9	14	9	0	2	1	2	1	0	1	2	2	2	1	0	4	5	3	0	4	2	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:56536179G>T	uc001sjr.3	+	24	2851	c.2733G>T	c.(2731-2733)caG>caT	p.Q911H	ESYT1_uc001sjq.3_Missense_Mutation_p.Q901H	NM_001184796	NP_001171725	Q9BSJ8	ESYT1_HUMAN	Homo sapiens extended synaptotagmin-like protein 1 (ESYT1), transcript variant 1, mRNA.	901						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						GCAGTGGTCAGGGGCAGGTGC	0.622													T	56536179	G	T	56536179	3	4	121	1	0	0	0	0	1	0	0	0	5305	991	35	4	2831	4	ESYT1	12	56536179	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	4087623	56536179	77315716	47	8170											
RNFT2	84900	broad.mit.edu	37	chr12	117217036	117217036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacctggagatgctggaCttctttgacctgctatggat	8	12	10	11	0	1	2	0	1	1	1	1	5	1	4	3	3	3	2	3	3	2	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:117217036C>T	uc009zwn.3	+	6	998	c.765C>T	c.(763-765)gaC>gaT	p.D255D	RNFT2_uc001twb.4_Silent_p.D255D|RNFT2_uc001twa.4_Silent_p.D165D|RNFT2_uc001twc.4_Silent_p.D3D	NM_001109903	NP_001103373	Q96EX2	RNFT2_HUMAN	Homo sapiens ring finger protein, transmembrane 2 (RNFT2), transcript variant 1, mRNA.	255						integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.034)		AGATGCTGGACTTCTTTGACC	0.547													T	117217036	C	T	117217036	2	4	121	1	0	0	0	0	0	0	0	1	13593	564	20	2		2	RNFT2	12	117217036	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	60680857	117217036	16634859	48	8171											
VSIG10	54621	broad.mit.edu	37	chr12	118517207	118517207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactatgtggcttgtaacaCacttgaacttcttgccatcc	10	13	6	12	0	1	1	0	1	1	0	2	1	2	1	2	1	4	2	2	1	4	6			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:118517207C>A	uc001tws.3	-	3	1203	c.869G>T	c.(868-870)tGt>tTt	p.C290F		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	290	Ig-like C2-type 3.					integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GCTTGTAACACACTTGAACTT	0.542													A	118517207	C	A	118517207	3	1	121	1	0	0	0	0	1	0	0	0	17325	478	17	4	777	4	VSIG10	12	118517207	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	1300171	118517207	15334688	49	8172											
CCDC60	160777	broad.mit.edu	37	chr12	119942953	119942953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccacactcagtctgagtcGggccagtggggggtcctctc	5	9	13	14	1	3	1	1	1	2	0	7	1	5	1	3	4	0	0	3	4	0	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr12:119942953G>A	uc001txe.3	+	6	1193	c.728G>A	c.(727-729)cGg>cAg	p.R243Q	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	243										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGTCTGAGTCGGGCCAGTGGG	0.557													A	119942953	G	A	119942953	3	1	121	1	0	0	0	0	1	0	0	0	2859	1116	39	1	754	1	CCDC60	12	119942953	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	1425746	119942953	13908942	50	8173											
RNF17	56163	broad.mit.edu	37	chr13	25425654	25425654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagatgaaaaaggagagCgtgttgatgtttctaaatat	15	11	12	3	1	1	4	0	2	1	2	1	6	1	4	0	1	1	3	0	1	5	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:25425654C>T	uc001upr.3	+	23	3306	c.3265C>T	c.(3265-3267)Cgt>Tgt	p.R1089C	RNF17_uc010tdd.1_Missense_Mutation_p.R948C|RNF17_uc010tde.2_Missense_Mutation_p.R1085C|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.R1028C|RNF17_uc010aac.3_Missense_Mutation_p.R287C|RNF17_uc010aad.3_Missense_Mutation_p.R141C	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1089					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AAAAGGAGAGCGTGTTGATGT	0.333													T	25425654	C	T	25425654	3	4	121	1	0	0	0	0	1	0	0	0	13552	768	27	1	3359	1	RNF17	13	25425654	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		25425654	89744224	51	8174											
PCDH9	5101	broad.mit.edu	37	chr13	67205380	67205380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccatctgcttcagtcctcTtgtccggagaggcctggtca	5	12	11	13	1	4	1	2	0	2	1	6	2	6	1	4	3	2	1	4	3	0	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:67205380T>C	uc001vik.3	-	3	3994	c.3302A>G	c.(3301-3303)aAg>aGg	p.K1101R	PCDH9_uc010aei.3_Non-coding_Transcript|PCDH9_uc001vil.3_Missense_Mutation_p.K1067R|PCDH9_uc010thl.2_Missense_Mutation_p.K1059R|U7_uc021rkh.1_5'Flank	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	1101					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTCAGTCCTCTTGTCCGGAGA	0.512													C	67205380	T	C	67205380	3	2	121	1	0	0	0	0	1	0	0	0	11594	1609	56	3	419	3	PCDH9	13	67205380	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	41779726	67205380	47964498	52	8175											
KLF12	11278	broad.mit.edu	37	chr13	74387376	74387376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaggtcatcatcatcaCtgtcacttttactttgtctg	7	17	7	10	0	6	0	5	0	1	0	6	0	6	0	0	2	1	1	0	2	1	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr13:74387376C>T	uc001vjf.3	-	4	941	c.719G>A	c.(718-720)aGt>aAt	p.S240N	KLF12_uc010aeq.3_Missense_Mutation_p.S240N|KLF12_uc001vjg.3_Missense_Mutation_p.S240N	NM_007249	NP_009180	Q9Y4X4	KLF12_HUMAN	Homo sapiens Kruppel-like factor 12 (KLF12), mRNA.	240					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		ATCATCATCACTGTCACTTTT	0.423													T	74387376	C	T	74387376	3	4	121	1	0	0	0	0	1	0	0	0	8398	565	20	2	505	2	KLF12	13	74387376	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	7181996	74387376	40782502	53	8176											
HEATR5A	25938	broad.mit.edu	37	chr14	31852888	31852888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttaggtaggagggtaatgCcacggcaatgcagtgtaaac	12	9	14	6	1	0	0	0	0	0	0	0	1	0	1	1	4	3	6	1	4	6	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr14:31852888C>T	uc001wrf.4	-	9	1620	c.1435G>A	c.(1435-1437)Gca>Aca	p.A479T	HEATR5A_uc010ami.3_Missense_Mutation_p.A84T|HEATR5A_uc001wrg.1_Missense_Mutation_p.A68T|HEATR5A_uc010tpk.1_Missense_Mutation_p.A479T	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	473							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGGGTAATGCCACGGCAATG	0.468													T	31852888	C	T	31852888	3	4	121	1	0	0	0	0	1	0	0	0	7086	739	26	2	4813	2	HEATR5A	14	31852888	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08		31852888	75496652	54	8177											
RYR3	6263	broad.mit.edu	37	chr15	34049760	34049760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccccttagcagcagcGgatatgcctcccataaggag	11	7	11	12	1	0	1	0	1	0	0	1	3	1	3	4	2	5	2	4	2	4	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:34049760G>A	uc001zhi.3	+	59	8738	c.8668G>A	c.(8668-8670)Gga>Aga	p.G2890R	RYR3_uc010bar.3_Missense_Mutation_p.G2890R	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2890					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TAGCAGCAGCGGATATGCCTC	0.512													A	34049760	G	A	34049760	3	1	121	1	0	0	0	0	1	0	0	0	13861	1117	39	1	8906	1	RYR3	15	34049760	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		34049760	68481632	55	8178											
SPTBN5	51332	broad.mit.edu	37	chr15	42162053	42162053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccgccgtgcggaagcGggccaggaggcgtgcccgct	5	4	16	16	6	1	0	1	0	0	0	1	2	1	2	5	4	3	1	5	4	1	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:42162053G>A	uc001zos.3	-	31	6067	c.5734C>T	c.(5734-5736)Cgc>Tgc	p.R1912C		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1947					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GTGCGGAAGCGGGCCAGGAGG	0.682													A	42162053	G	A	42162053	3	1	121	1	0	0	0	0	1	0	0	0	15218	1116	39	1	5333	1	SPTBN5	15	42162053	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	8112293	42162053	60369339	56	8179											
GALK2	2585	broad.mit.edu	37	chr15	49620177	49620177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggctcaagggtcacgacttActggagcaggatggggaggc	9	6	18	8	1	2	0	2	0	0	0	2	4	2	3	0	7	2	2	0	7	2	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:49620177A>G	uc001zxj.1	+	9	1296	c.1198A>G	c.(1198-1200)Act>Gct	p.T400A	GALK2_uc001zxi.1_Missense_Mutation_p.T389A|GALK2_uc010ufb.1_Missense_Mutation_p.T376A|GALK2_uc001zxk.2_Non-coding_Transcript|GALK2_uc010ufc.1_Missense_Mutation_p.T376A	NM_002044	NP_002035	Q01415	GALK2_HUMAN	Homo sapiens galactokinase 2 (GALK2), transcript variant 1, mRNA.	400					galactose metabolic process	cytoplasm	ATP binding|galactokinase activity|N-acetylgalactosamine kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		all_lung(180;0.000325)		all cancers(107;3.71e-08)|GBM - Glioblastoma multiforme(94;7e-05)		GTCACGACTTACTGGAGCAGG	0.438													G	49620177	A	G	49620177	3	3	121	1	0	0	0	0	1	0	0	0	6258	391	14	3	1260	3	GALK2	15	49620177	Missense_Mutation	SNP	A	TCGA-12-3652-01A-01D-1495-08	7458124	49620177	52911215	57	8180											
SLC24A1	9187	broad.mit.edu	37	chr15	65917215	65917215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgacacatgaggtagaagCaaacgtcttgacttctccaa	13	10	8	10	1	3	4	0	3	3	1	4	4	3	4	1	1	2	2	1	1	4	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr15:65917215C>A	uc010ujf.2	+	1	1084	c.797C>A	c.(796-798)gCa>gAa	p.A266E	SLC24A1_uc010ujd.1_Missense_Mutation_p.A266E|SLC24A1_uc010uje.1_Missense_Mutation_p.A266E|SLC24A1_uc010ujg.2_Missense_Mutation_p.A266E|SLC24A1_uc010ujh.2_Missense_Mutation_p.A266E	NM_004727	NP_004718	O60721	NCKX1_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 1 (SLC24A1), transcript variant 1, mRNA.	266					response to light intensity|visual perception	integral to plasma membrane|membrane fraction|outer membrane	calcium, potassium:sodium antiporter activity|protein binding|symporter activity			breast(2)|endometrium(7)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGGTAGAAGCAAACGTCTTG	0.473													A	65917215	C	A	65917215	3	1	121	1	0	0	0	0	1	0	0	0	14559	710	25	4		4	SLC24A1	15	65917215	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	16297038	65917215	36614177	58	8181											
MYO15A	51168	broad.mit.edu	37	chr17	18052554	18052554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaacagctgggactcGgatgaggacatgtccactag	10	9	14	8	1	0	1	0	1	0	0	2	5	1	5	1	4	2	1	1	4	2	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:18052554G>A	uc021trm.1	+	32	7200	c.6981G>A	c.(6979-6981)tcG>tcA	p.S2327S	MYO15A_uc021trl.1_Silent_p.S2325S	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2327	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCTGGGACTCGGATGAGGACA	0.537													A	18052554	G	A	18052554	2	1	121	1	0	0	0	0	0	0	0	1	10139	1103	39	1		1	MYO15A	17	18052554	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08		18052554	63142656	59	8182											
MYO1D	4642	broad.mit.edu	37	chr17	31107790	31107790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaatgaacgtatagatgcgCcctttttcaaatctgtacag	12	12	7	10	2	2	2	1	1	1	1	2	2	2	2	2	0	3	2	2	0	6	5			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:31107790C>T	uc002hho.1	-	1	120	c.108G>A	c.(106-108)ggG>ggA	p.G36G	MYO1D_uc002hhp.1_Silent_p.G36G|MYO1D_uc010wcb.2_Silent_p.G36G	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	36	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATAGATGCGCCCTTTTTCAA	0.413													T	31107790	C	T	31107790	2	4	121	1	0	0	0	0	0	0	0	1	10147	726	26	2		2	MYO1D	17	31107790	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	13055236	31107790	50087420	60	8183											
SLC4A1	6521	broad.mit.edu	37	chr17	42335421	42335421	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgaagatgacggcagccagGacctgggggctgaatgcatc	11	6	15	9	1	0	4	0	3	0	1	1	5	0	5	2	4	2	3	2	4	2	0			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr17:42335421G>A	uc002igf.4	-	10	1364	c.1215C>T	c.(1213-1215)gtC>gtT	p.V405V	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	405	Membrane (anion exchange).		Missing (in EL4).		bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.Q404H(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CGGCAGCCAGGACCTGGGGGC	0.597													A	42335421	G	A	42335421	2	1	121	1	0	0	0	0	0	0	0	1	14744	1161	41	2		2	SLC4A1	17	42335421	Silent	SNP	G	TCGA-12-3652-01A-01D-1495-08	11227631	42335421	38859789	61	8184											
RBBP8	5932	broad.mit.edu	37	chr18	20564928	20564928	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctagtagctgacacttaTgaccaaagtcaatctccaat	14	12	5	10	0	3	2	1	2	2	0	4	2	3	2	2	0	1	2	2	0	6	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr18:20564928T>C	uc002kua.3	+	7	807	c.684T>C	c.(682-684)taT>taC	p.Y228Y	RBBP8_uc002ktw.3_Silent_p.Y228Y|RBBP8_uc002kty.3_Silent_p.Y228Y|RBBP8_uc002ktz.3_Silent_p.Y228Y|RBBP8_uc002ktx.1_Silent_p.Y228Y	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	228					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CTGACACTTATGACCAAAGTC	0.353								Homologous recombination					C	20564928	T	C	20564928	2	2	121	1	0	0	0	0	0	0	0	1	13193	1471	51	3		3	RBBP8	18	20564928	Silent	SNP	T	TCGA-12-3652-01A-01D-1495-08		20564928	57512320	62	8185											
C3	718	broad.mit.edu	37	chr19	6677900	6677900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgggggtgtggtcagttgGggcacccaaagacaaccatg	11	7	15	8	0	1	1	1	0	0	1	1	1	1	1	2	5	1	2	2	5	3	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:6677900G>T	uc002mfm.3	-	40	5047	c.4985C>A	c.(4984-4986)cCc>cAc	p.P1662H		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1662					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TGGTCAGTTGGGGCACCCAAA	0.557													T	6677900	G	T	6677900	3	4	121	1	0	0	0	0	1	0	0	0	2225	1232	43	4	10	4	C3	19	6677900	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		6677900	52451083	63	8186											
FKBP8	23770	broad.mit.edu	37	chr19	18649190	18649190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggcccgtccacagccGtcttcagggtcacctccagg	6	7	12	16	2	4	0	3	0	1	0	6	0	6	0	5	4	1	0	5	4	0	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:18649190G>A	uc002njk.1	-	4	718	c.605C>T	c.(604-606)aCg>aTg	p.T202M	FKBP8_uc010xqi.1_Missense_Mutation_p.T231M|FKBP8_uc002njj.1_Missense_Mutation_p.T203M|FKBP8_uc021uqp.1_Intron	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	202	PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GTCCACAGCCGTCTTCAGGGT	0.697													A	18649190	G	A	18649190	3	1	121	1	0	0	0	0	1	0	0	0	5963	1145	40	1	653	1	FKBP8	19	18649190	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	11971290	18649190	40479793	64	8187											
TMEM147	10430	broad.mit.edu	37	chr19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgtcatgtcccggaatgCcggcaagggagagtacaaga	11	7	13	10	2	1	2	1	0	0	2	2	4	2	3	3	3	2	2	3	3	4	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36037641C>T	uc002oaj.2	+	3	415	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	92						endoplasmic reticulum membrane|integral to membrane	protein binding	p.A92V(2)|p.A92A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572													T	36037641	C	T	36037641	3	4	121	1	0	0	0	0	1	0	0	0	16161	739	26	2	289	2	TMEM147	19	36037641	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	17388451	36037641	23091342	65	8188											
NPHS1	4868	broad.mit.edu	37	chr19	36339161	36339161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggggctcacattttaCgttcaggatgagcgacttct	8	11	13	9	2	3	1	2	1	1	0	3	3	3	2	0	4	2	3	0	4	1	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:36339161C>T	uc002oby.3	-	9	1465	c.1309G>A	c.(1309-1311)Gta>Ata	p.V437I		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	437					cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.V437I(2)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCACATTTTACGTTCAGGATG	0.582													T	36339161	C	T	36339161	3	4	121	1	0	0	0	0	1	0	0	0	10658	536	19	1	2496	1	NPHS1	19	36339161	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	301520	36339161	22789822	66	8189											
TTYH1	57348	broad.mit.edu	37	chr19	54930375	54930375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcgctgtctacctcaTccgcttctgctgctgccggc	3	14	8	16	3	4	0	2	0	2	0	6	0	5	0	3	1	4	4	3	1	1	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:54930375T>C	uc002qfr.3	+	1	322	c.200T>C	c.(199-201)aTc>aCc	p.I67T	TTYH1_uc010yey.2_Missense_Mutation_p.I116T|TTYH1_uc002qfq.3_Missense_Mutation_p.I67T|TTYH1_uc002qft.3_Missense_Mutation_p.I67T|TTYH1_uc002qfu.1_5'UTR	NM_001005367	NP_001005367	Q9H313	TTYH1_HUMAN	Homo sapiens tweety homolog 1 (Drosophila) (TTYH1), transcript variant 2, mRNA.	67					cell adhesion	chloride channel complex|plasma membrane	chloride channel activity|iron ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		GTCTACCTCATCCGCTTCTGC	0.682													C	54930375	T	C	54930375	3	2	121	1	0	0	0	0	1	0	0	0	16841	1435	50	3	206	3	TTYH1	19	54930375	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	18591214	54930375	4198608	67	8190											
ZNF418	147686	broad.mit.edu	37	chr19	58441862	58441862	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggcatctctgaacctcacTaaggagactccactcctcct	11	9	6	15	0	2	2	1	1	1	1	6	3	5	2	4	2	1	1	4	2	3	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr19:58441862T>A	uc002qqs.1	-	2	359	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	ZNF418_uc010yhn.1_Non-coding_Transcript|ZNF418_uc010yho.1_Intron	NM_133460	NP_597717	Q8TF45	ZN418_HUMAN	Homo sapiens zinc finger protein 418 (ZNF418), mRNA.	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		TGAACCTCACTAAGGAGACTC	0.483													A	58441862	T	A	58441862	3	1	121	1	0	0	0	0	1	0	0	0	17996	1522	53	5	1971	5	ZNF418	19	58441862	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08	3511487	58441862	687121	68	8191											
PROKR2	128674	broad.mit.edu	37	chr20	5283335	5283335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgatcaggaaggaggccGtttgataattcatccgtggt	10	10	14	7	3	2	1	2	1	0	0	3	4	3	3	2	5	0	1	2	5	2	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:5283335G>A	uc010zqw.2	-	1	514	c.506C>T	c.(505-507)aCg>aTg	p.T169M	PROKR2_uc010zqx.2_Missense_Mutation_p.T169M|PROKR2_uc010zqy.2_Missense_Mutation_p.T169M	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	169						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAAGGAGGCCGTTTGATAATT	0.488										HNSCC(71;0.22)			A	5283335	G	A	5283335	3	1	121	1	0	0	0	0	1	0	0	0	12639	1145	40	1	651	1	PROKR2	20	5283335	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		5283335	57742185	69	8192											
SEMG2	6407	broad.mit.edu	37	chr20	43851266	43851266	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcaaaaccaggtaacAattcatagtcaagatcaaga	19	8	6	8	0	4	2	4	0	1	2	5	2	4	2	1	1	2	1	1	1	8	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:43851266A>G	uc010ggz.3	+	1	1050	c.993A>G	c.(991-993)acA>acG	p.T331T	SEMG2_uc002xnk.3_Silent_p.T331T|SEMG2_uc002xnl.3_Silent_p.T331T	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	331	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACCAGGTAACAATTCATAGTC	0.373													G	43851266	A	G	43851266	2	3	121	1	0	0	0	0	0	0	0	1	14138	117	5	3		3	SEMG2	20	43851266	Silent	SNP	A	TCGA-12-3652-01A-01D-1495-08	38567931	43851266	19174254	70	8193											
WFDC8	90199	broad.mit.edu	37	chr20	44180784	44180784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatagcaagggcttgcGtgggcagaaaccttttttga	10	11	13	7	1	0	2	0	1	0	1	0	2	0	2	1	3	4	4	1	3	4	6			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:44180784G>A	uc002xow.3	-	5	686	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C	WFDC8_uc002xox.3_Missense_Mutation_p.R203C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	203	WAP 3.					extracellular region	serine-type endopeptidase inhibitor activity	p.P202Q(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				AAGGGCTTGCGTGGGCAGAAA	0.423													A	44180784	G	A	44180784	3	1	121	1	0	0	0	0	1	0	0	0	17458	1145	40	1	122	1	WFDC8	20	44180784	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08	329518	44180784	18844736	71	8194											
MOCS3	27304	broad.mit.edu	37	chr20	49575846	49575846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggcagtggaatgcgtgcCgtacactcaggcccttacgc	7	9	12	13	4	1	0	1	0	0	0	2	1	1	1	2	3	4	2	2	3	3	3			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr20:49575846C>T	uc002xvy.1	+	0	484	c.467C>T	c.(466-468)cCg>cTg	p.P156L	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	156					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GAATGCGTGCCGTACACTCAG	0.657													T	49575846	C	T	49575846	3	4	121	1	0	0	0	0	1	0	0	0	9768	652	23	1	469	1	MOCS3	20	49575846	Missense_Mutation	SNP	C	TCGA-12-3652-01A-01D-1495-08	5395062	49575846	13449674	72	8195											
UMODL1	89766	broad.mit.edu	37	chr21	43496188	43496188	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacagaaggtggaggccGtgcagacgtcctacacgtcc	9	7	13	12	3	0	2	0	0	0	2	2	3	2	3	3	3	3	2	3	3	3	2			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chr21:43496188G>C	uc002zag.1	+	1	151	c.151G>C	c.(151-153)Gtg>Ctg	p.V51L	UMODL1_uc002zad.1_5'UTR|UMODL1_uc002zae.1_5'UTR|UMODL1_uc002zaf.1_Missense_Mutation_p.V51L|AX748362_uc002zah.1_Non-coding_Transcript	NM_173568	NP_001186456	Q5DID0	UROL1_HUMAN	Homo sapiens uromodulin-like 1 (UMODL1), transcript variant 2, mRNA.	51	EMI.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGTGGAGGCCGTGCAGACGTC	0.587													C	43496188	G	C	43496188	3	2	121	1	0	0	0	0	1	0	0	0	17082	1145	40	4	157	4	UMODL1	21	43496188	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		43496188	4633707	73	8196											
MAGEB4	4115	broad.mit.edu	37	chrX	30260502	30260502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactggatctgataaaggcGacgagagccaagatgaggaa	15	5	14	7	2	1	4	0	2	1	2	1	8	1	6	1	3	1	1	1	3	4	1			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:30260502G>A	uc004dcb.3	+	0	446	c.250G>A	c.(250-252)Gac>Aac	p.D84N	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	84										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						TGATAAAGGCGACGAGAGCCA	0.517													A	30260502	G	A	30260502	3	1	121	1	0	0	0	0	1	0	0	0	9253	1058	37	1	252	1	MAGEB4	23	30260502	Missense_Mutation	SNP	G	TCGA-12-3652-01A-01D-1495-08		30260502	125010058	74	8197											
AR	367	broad.mit.edu	37	chrX	66937441	66937441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactccaggatgctctacttCgcccctgatctggttttcaa	8	13	7	13	1	3	1	1	1	2	0	5	2	4	2	3	2	3	2	3	2	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrX:66937441C>T	uc004dwu.2	+	4	3410	c.2295C>T	c.(2293-2295)ttC>ttT	p.F765F	AR_uc022byk.1_Intron|AR_uc004dwv.2_Silent_p.F233F	NM_000044	NP_000035	P10275	ANDR_HUMAN	Homo sapiens androgen receptor (AR), transcript variant 1, mRNA.	764	Interaction with MYST2.|Ligand-binding.		A -> T (in AIS; loss of androgen binding).|A -> V (in AIS).		cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TGCTCTACTTCGCCCCTGATC	0.542									Androgen Insensitivity Syndrome				T	66937441	C	T	66937441	2	4	121	1	0	0	0	0	0	0	0	1	839	883	31	1		1	AR	23	66937441	Silent	SNP	C	TCGA-12-3652-01A-01D-1495-08	36676939	66937441	88333119	75	8198											
KDM5D	8284	broad.mit.edu	37	chrY	21897252	21897252	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacaaactgggcactgcTgtgattctttcgaagttgca	9	13	9	10	1	1	1	0	1	1	0	2	2	1	1	1	1	4	4	1	1	3	4			TCGA-12-3652-01A-01D-1495-08	TCGA-12-3652-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ab460bc2-e504-4b7f-8533-ab06448a55bc	efb5f9b6-2243-41ed-aedc-4e3ab39ce2b0	g.chrY:21897252T>A	uc004fug.3	-	7	1207	c.919A>T	c.(919-921)Agc>Tgc	p.S307C	KDM5D_uc011naz.2_Missense_Mutation_p.S307C|KDM5D_uc010nwy.3_Missense_Mutation_p.S250C|KDM5D_uc011nba.1_Missense_Mutation_p.S307C|KDM5D_uc004fuh.2_Missense_Mutation_p.S262C	NM_004653	NP_004644	Q9BY66	KDM5D_HUMAN	Homo sapiens lysine (K)-specific demethylase 5D (KDM5D), transcript variant 2, mRNA.	307					chromatin modification|spermatogenesis	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			kidney(1)|large_intestine(9)|lung(6)|skin(1)	17					Vitamin C(DB00126)	TGGGCACTGCTGTGATTCTTT	0.398													A	21897252	T	A	21897252	3	1	121	1	0	0	0	0	1	0	0	0	8194	1580	55	5	3877	5	KDM5D	24	21897252	Missense_Mutation	SNP	T	TCGA-12-3652-01A-01D-1495-08		21897252	37476314	76	8199											
KIAA1751	85452	broad.mit.edu	37	chr1	1900084	1900084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctcaccagtgtgtacGtgttggttgggactgtggtc	4	16	14	7	1	1	0	1	0	0	0	2	1	1	1	1	3	2	4	1	3	1	5	rs150108692	by1000genomes	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:1900084G>A	uc001aim.1	-	10	1391	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M	KIAA1751_uc009vkz.1_Missense_Mutation_p.T412M	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	412										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CAGTGTGTACGTGTTGGTTGG	0.582													A	1900084	G	A	1900084	3	1	122	1	0	0	0	0	1	0	0	0	8314	1145	40	1	1085	1	KIAA1751	1	1900084	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		1900084	247350537	1	8200											
MTF1	4520	broad.mit.edu	37	chr1	38323155	38323155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtcgtcatcttcatccTccaaagtgccagggtcctgc	6	11	9	15	2	3	0	2	0	1	0	8	0	7	0	5	1	2	0	5	1	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:38323155T>C	uc001cce.1	-	1	317	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MTF1_uc009vvj.1_5'UTR	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	59						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ATCTTCATCCTCCAAAGTGCC	0.488													C	38323155	T	C	38323155	3	2	122	1	0	0	0	0	1	0	0	0	9998	1551	54	3	2125	3	MTF1	1	38323155	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	36423071	38323155	210927466	2	8201											
WDR65	149465	broad.mit.edu	37	chr1	43649424	43649424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgatgacaagattgtcGttggcactgacacaggcaaa	12	9	12	8	1	0	4	0	3	0	1	1	4	0	4	0	3	0	4	0	3	2	2	rs142914910		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:43649424G>A	uc021omk.1	+	3	783	c.637G>A	c.(637-639)Gtt>Att	p.V213I	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.V202I|WDR65_uc001ciq.2_Missense_Mutation_p.V213I|WDR65_uc001cip.2_Missense_Mutation_p.V213I	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	213										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAAGATTGTCGTTGGCACTGA	0.502													A	43649424	G	A	43649424	3	1	122	1	0	0	0	0	1	0	0	0	17418	1145	40	1	647	1	WDR65	1	43649424	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	5326269	43649424	205601197	3	8202											
RAD54L	8438	broad.mit.edu	37	chr1	46726266	46726266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattctcagtaaggttttgCggcctcatcagagagaggta	10	12	11	8	1	3	2	3	0	1	2	4	3	3	2	1	3	1	3	1	3	3	6	rs149141765		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:46726266C>T	uc001cpl.2	+	5	1171	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	RAD54L_uc009vye.2_Missense_Mutation_p.R154W	NM_003579	NP_003570	Q92698	RAD54_HUMAN	Homo sapiens RAD54-like (S. cerevisiae) (RAD54L), transcript variant 1, mRNA.	154					meiosis	nucleus	ATP binding|DNA binding|helicase activity	p.R154W(2)		breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		TAAGGTTTTGCGGCCTCATCA	0.537								Direct reversal of damage;Homologous recombination					T	46726266	C	T	46726266	3	4	122	1	0	0	0	0	1	0	0	0	13081	759	27	1	482	1	RAD54L	1	46726266	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	3076842	46726266	202524355	4	8203											
LMX1A	4009	broad.mit.edu	37	chr1	165177351	165177351	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgctgctgctgctgtcGcctggccagcttcttcatct	2	15	10	14	1	3	0	1	0	2	0	4	0	3	0	2	1	6	6	2	1	0	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr1:165177351G>A	uc001gcz.2	-	6	960	c.766C>T	c.(766-768)Cga>Tga	p.R256*	LMX1A_uc021pdz.1_Nonsense_Mutation_p.R256*|LMX1A_uc021pdy.1_Nonsense_Mutation_p.R7*|LMX1A_uc001gcw.2_5'UTR	NM_001174069	NP_796372	Q8TE12	LMX1A_HUMAN	Homo sapiens LIM homeobox transcription factor 1, alpha (LMX1A), transcript variant 4, mRNA.	256	Gln-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					TGCTGCTGTCGCCTGGCCAGC	0.562													A	165177351	G	A	165177351	4	1	122	1	0	0	0	0	0	1	0	0	8922	1095	38	1	394	1	LMX1A	1	165177351	Nonsense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	118451085	165177351	84073270	5	8204											
CDC42EP3	10602	broad.mit.edu	37	chr2	37873026	37873026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagggcccaagatcaagCtgcagggagaggagggaacc	13	3	17	8	0	1	3	1	1	0	2	1	6	1	5	2	4	3	2	2	4	3	0			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:37873026C>A	uc021vfz.1	-	0	705	c.705G>T	c.(703-705)caG>caT	p.Q235H	CDC42EP3_uc002rqi.1_Missense_Mutation_p.Q235H	NM_006449	NP_006440	Q9UKI2	BORG2_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 3 (CDC42EP3), mRNA.	235					regulation of cell shape|signal transduction	actin cytoskeleton|cytoplasm|endomembrane system|membrane	cytoskeletal regulatory protein binding			endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	11		all_hematologic(82;0.172)				CAAGATCAAGCTGCAGGGAGA	0.463													A	37873026	C	A	37873026	3	1	122	1	0	0	0	0	1	0	0	0	3107	796	28	4	63	4	CDC42EP3	2	37873026	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		37873026	205326347	6	8205											
LRP1B	53353	broad.mit.edu	37	chr2	141130669	141130669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactgaccattggaacacCggaactgatctttggaacaa	14	9	8	10	1	1	2	0	2	1	0	1	5	1	5	2	3	4	0	2	3	5	3	rs145915063		TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:141130669C>T	uc002tvj.1	-	68	11648	c.10676G>A	c.(10675-10677)cGg>cAg	p.R3559Q		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3559	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTGGAACACCGGAACTGATC	0.368										TSP Lung(27;0.18)			T	141130669	C	T	141130669	3	4	122	1	0	0	0	0	1	0	0	0	9025	652	23	1	3215	1	LRP1B	2	141130669	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	103257643	141130669	102068704	7	8206											
DFNB59	494513	broad.mit.edu	37	chr2	179323290	179323290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agggacaaagctattgttttCccagcacatacaaccatagc	14	9	7	11	0	0	0	0	0	0	0	1	1	1	1	2	1	5	3	2	1	5	6			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr2:179323290C>T	uc002umi.4	+	4	959	c.603C>T	c.(601-603)ttC>ttT	p.F201F	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Silent_p.F201F	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	201					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTATTGTTTTCCCAGCACATA	0.343													T	179323290	C	T	179323290	2	4	122	1	0	0	0	0	0	0	0	1	4495	854	30	2		2	DFNB59	2	179323290	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	38192621	179323290	63876083	8	8207											
P4HTM	54681	broad.mit.edu	37	chr3	49042445	49042445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccataccaagctggtaGccaacgagtctgtacccttc	9	9	8	15	1	1	0	0	0	1	0	3	1	2	0	4	1	5	4	4	1	5	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:49042445G>A	uc003cvh.3	+	5	1388	c.1039G>A	c.(1039-1041)Gcc>Acc	p.A347T	P4HTM_uc003cvg.3_Missense_Mutation_p.A347T|WDR6_uc011bbx.1_5'Flank|WDR6_uc003cvj.2_5'Flank|WDR6_uc011bby.1_5'Flank|WDR6_uc010hkn.2_5'Flank|WDR6_uc011bbz.1_5'Flank	NM_177938	NP_808807	Q9NXG6	P4HTM_HUMAN	Homo sapiens prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) (P4HTM), transcript variant 3, mRNA.	347	Fe2OG dioxygenase.					endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	CAAGCTGGTAGCCAACGAGTC	0.587													A	49042445	G	A	49042445	3	1	122	1	0	0	0	0	1	0	0	0	11436	971	34	2	1061	2	P4HTM	3	49042445	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		49042445	148979985	9	8208											
ATR	545	broad.mit.edu	37	chr3	142281611	142281611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaataatacgagtaagaacCattaataaagtgacttcaat	19	10	6	6	1	1	2	1	1	0	1	1	3	1	2	1	0	2	2	1	0	9	6			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:142281611C>T	uc003eux.4	-	3	755	c.633G>A	c.(631-633)atG>atA	p.M211I		NM_001184	NP_001175	Q13535	ATR_HUMAN	Homo sapiens ataxia telangiectasia and Rad3 related (ATR), mRNA.	211			M -> T (in dbSNP:rs2227928).		cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity	p.M211T(1)		NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GAGTAAGAACCATTAATAAAG	0.318								Other conserved DNA damage response genes					T	142281611	C	T	142281611	3	4	122	1	0	0	0	0	1	0	0	0	1209	594	21	2	7477	2	ATR	3	142281611	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	93239166	142281611	55740819	10	8209											
YEATS2	55689	broad.mit.edu	37	chr3	183525871	183525871	+	Frame_Shift_Del	DEL	G	G	-																															aggaacgtgtatgcgtccgtGgtggaggacatgatcctgaa																										TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:183525871delG	uc003fly.2	+	28	4260	c.4065delG	c.(4063-4065)gtgfs	p.V1355fs	AX746590_uc003fma.1_5'Flank|YEATS2_uc021xie.1_5'Flank	NM_018023	NP_060493	Q9ULM3	YETS2_HUMAN	Homo sapiens YEATS domain containing 2 (YEATS2), mRNA.	1355					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			ATGCGTCCGTGGTGGAGGACA	0.562													-	183525871	G	-	183525871	7	5	122	1	0	1	0	1	0	0	0	0	17574	1335	47	0	4175	0	YEATS2	3	183525871	Frame_Shift_Del	DEL	G	TCGA-12-3653-01A-01D-1495-08	41244260	183525871	14496559	11	8210											
PCYT1A	5130	broad.mit.edu	37	chr3	195965646	195965646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggggaagtcttgccGgagaagggccatcggaaaga	12	5	17	7	2	1	2	0	0	1	2	2	5	1	4	2	6	1	0	2	6	4	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr3:195965646G>A	uc003fwg.3	-	9	1190	c.1017C>T	c.(1015-1017)tcC>tcT	p.S339S	AF088041_uc003fwf.1_5'Flank|PCYT1A_uc003fwh.3_Silent_p.S339S	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	339	3 X repeats.					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	AAGTCTTGCCGGAGAAGGGCC	0.607													A	195965646	G	A	195965646	2	1	122	1	0	0	0	0	0	0	0	1	11686	1103	39	1		1	PCYT1A	3	195965646	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08	12439775	195965646	2056784	12	8211											
CDH9	1007	broad.mit.edu	37	chr5	26881547	26881547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcaggcattacatcccGtctaagtttactgtcttctc	8	16	6	11	1	4	0	1	0	3	0	6	0	5	0	1	1	2	3	1	1	3	6			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:26881547G>A	uc003jgs.1	-	11	2237	c.2068C>T	c.(2068-2070)Cgg>Tgg	p.R690W	CDH9_uc011cnv.1_Missense_Mutation_p.R283W	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	690					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ATTACATCCCGTCTAAGTTTA	0.408													A	26881547	G	A	26881547	3	1	122	1	0	0	0	0	1	0	0	0	3147	1144	40	1	305	1	CDH9	5	26881547	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		26881547	154033713	13	8212											
GDNF	2668	broad.mit.edu	37	chr5	37815950	37815950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctgcatcgcaagagcCgctgcagtacctaaaaatca	13	7	8	13	2	2	1	2	0	0	1	3	1	2	1	2	0	5	6	2	0	5	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:37815950C>T	uc011cpi.2	-	2	639	c.439G>A	c.(439-441)Ggc>Agc	p.G147S	GDNF_uc011cpd.2_Missense_Mutation_p.G95S|GDNF_uc011cpe.2_Missense_Mutation_p.G121S|GDNF_uc011cpf.2_Missense_Mutation_p.G121S|GDNF_uc011cpg.2_Missense_Mutation_p.G164S|GDNF_uc011cph.2_Missense_Mutation_p.G138S	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	147					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					TCGCAAGAGCCGCTGCAGTAC	0.443													T	37815950	C	T	37815950	3	4	122	1	0	0	0	0	1	0	0	0	6378	652	23	1	199	1	GDNF	5	37815950	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10934403	37815950	143099310	14	8213											
LNPEP	4012	broad.mit.edu	37	chr5	96341853	96341853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatttcctttagtgactgTtcaaaagaaaggaaaggaac	16	10	10	5	0	1	2	1	1	0	1	2	5	2	5	1	3	1	1	1	3	6	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr5:96341853T>C	uc003kmv.1	+	9	2376	c.1862T>C	c.(1861-1863)gTt>gCt	p.V621A	LNPEP_uc003kmw.1_Missense_Mutation_p.V607A	NM_005575	NP_787116	Q9UIQ6	LCAP_HUMAN	Homo sapiens leucyl/cystinyl aminopeptidase (LNPEP), transcript variant 1, mRNA.	621					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TTAGTGACTGTTCAAAAGAAA	0.333													C	96341853	T	C	96341853	3	2	122	1	0	0	0	0	1	0	0	0	8925	1725	60	3	1900	3	LNPEP	5	96341853	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	58525903	96341853	84573407	15	8214											
F13A1	2162	broad.mit.edu	37	chr6	6196068	6196068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcaaattggaagcagaCatggccgtgcttgatggctt	10	11	12	8	1	1	2	1	1	0	1	1	3	1	3	1	3	3	4	1	3	2	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:6196068C>T	uc003mwv.3	-	9	1390	c.1267G>A	c.(1267-1269)Gtc>Atc	p.V423I	F13A1_uc011dib.2_Missense_Mutation_p.V360I	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	423					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGGAAGCAGACATGGCCGTGC	0.498													T	6196068	C	T	6196068	3	4	122	1	0	0	0	0	1	0	0	0	5382	478	17	2	955	2	F13A1	6	6196068	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		6196068	164918999	16	8215											
PKHD1	5314	broad.mit.edu	37	chr6	51609339	51609339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacttttcctaaatcttTcctgtgaagacagtcaaaaa	14	13	5	9	0	2	2	1	1	1	1	4	3	4	2	2	0	1	0	2	0	6	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr6:51609339T>C	uc003pah.1	-	60	10275	c.9999_splice	c.e60-1	p.R3333_splice	PKHD1_uc010jzn.1_Splice_Site_p.R1316_splice|PKHD1_uc003pai.3_Splice_Site_p.R3333_splice	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3333					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCTAAATCTTTCCTGTGAAGA	0.383													C	51609339	T	C	51609339	3	2	122	1	0	0	0	0	1	0	0	0	12048	1797	62	3	2295	3	PKHD1	6	51609339	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	45413271	51609339	119505728	17	8216											
COL28A1	340267	broad.mit.edu	37	chr7	7483281	7483281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcccggaagccccgcttCtccctagagaaaatgacact	10	8	8	15	2	1	2	0	1	1	1	3	4	2	3	4	1	2	2	4	1	4	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:7483281C>T	uc003src.1	-	19	1702	c.1585G>A	c.(1585-1587)Gaa>Aaa	p.E529K	COL28A1_uc011jxe.1_Missense_Mutation_p.E212K|COL28A1_uc003srd.3_Missense_Mutation_p.E84K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	529	Collagen-like 4.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		AGCCCCGCTTCTCCCTAGAGA	0.517													T	7483281	C	T	7483281	3	4	122	1	0	0	0	0	1	0	0	0	3717	922	32	2	1856	2	COL28A1	7	7483281	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		7483281	151655382	18	8217											
GRM3	2913	broad.mit.edu	37	chr7	86415877	86415877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacatccgcaagtcctacGacagcgtgatccgagaactg	12	6	9	14	4	0	2	0	1	0	1	3	4	3	2	4	0	4	1	4	0	4	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:86415877G>A	uc003uid.3	+	2	1868	c.769G>A	c.(769-771)Gac>Aac	p.D257N	GRM3_uc010lef.3_Missense_Mutation_p.D255N|GRM3_uc010leg.3_Missense_Mutation_p.D129N|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	257					synaptic transmission	integral to plasma membrane		p.D257H(2)|p.Y256Y(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAAGTCCTACGACAGCGTGAT	0.647													A	86415877	G	A	86415877	3	1	122	1	0	0	0	0	1	0	0	0	6853	1058	37	1	775	1	GRM3	7	86415877	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	78932596	86415877	72722786	19	8218											
ABCB1	5243	broad.mit.edu	37	chr7	87179839	87179839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catttctgaattccaaatttCccttaatattatctggtttg	10	19	4	8	0	2	1	0	1	2	0	4	1	4	1	2	1	0	1	2	1	5	7			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:87179839C>G	uc003uiz.2	-	11	1662	c.1169G>C	c.(1168-1170)gGa>gCa	p.G390A	ABCB1_uc011khc.2_Missense_Mutation_p.G326A	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	390					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)	TTCCAAATTTCCCTTAATATT	0.313													G	87179839	C	G	87179839	3	3	122	1	0	0	0	0	1	0	0	0	40	855	30	4	2745	4	ABCB1	7	87179839	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	763962	87179839	71958824	20	8219											
NPTX2	4885	broad.mit.edu	37	chr7	98256632	98256632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccatcaagcccgggggCgtgctgatccttggacaaga	9	6	12	14	2	1	2	1	1	0	1	2	3	2	3	4	3	2	1	4	3	2	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:98256632C>T	uc003upl.2	+	3	1221	c.1044C>T	c.(1042-1044)ggC>ggT	p.G348G		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	348	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			AGCCCGGGGGCGTGCTGATCC	0.677													T	98256632	C	T	98256632	2	4	122	1	0	0	0	0	0	0	0	1	10679	755	27	1		1	NPTX2	7	98256632	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	11076793	98256632	60882031	21	8220											
FOXP2	93986	broad.mit.edu	37	chr7	114282648	114282648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccatagtgaatggacAgtcttcagttctaagtgcaa	12	13	8	8	0	4	1	2	1	2	0	5	2	5	2	1	1	1	2	1	1	4	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:114282648A>G	uc003vhb.3	+	6	1333	c.959A>G	c.(958-960)cAg>cGg	p.Q320R	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.Q345R|FOXP2_uc003vha.3_Missense_Mutation_p.Q228R|FOXP2_uc011kmv.2_Missense_Mutation_p.Q319R|FOXP2_uc011kmu.2_Missense_Mutation_p.Q337R|FOXP2_uc010ljz.2_Missense_Mutation_p.Q228R|FOXP2_uc003vgx.2_Missense_Mutation_p.Q320R|FOXP2_uc003vhc.3_Missense_Mutation_p.Q345R|FOXP2_uc003vhd.3_Missense_Mutation_p.Q320R	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	320					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GTGAATGGACAGTCTTCAGTT	0.388													G	114282648	A	G	114282648	3	3	122	1	0	0	0	0	1	0	0	0	6078	188	7	3	1115	3	FOXP2	7	114282648	Missense_Mutation	SNP	A	TCGA-12-3653-01A-01D-1495-08	16026016	114282648	44856015	22	8221											
PLXNA4	91584	broad.mit.edu	37	chr7	131887591	131887591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggctccacacttgtagagGtgaactgcagaggggaaggg	11	7	16	7	0	0	3	0	1	0	2	1	4	1	4	1	5	2	3	1	5	3	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:131887591G>T	uc003vra.4	-	11	2629	c.2400C>A	c.(2398-2400)caC>caA	p.H800Q		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	800						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						ACTTGTAGAGGTGAACTGCAG	0.632													T	131887591	G	T	131887591	3	4	122	1	0	0	0	0	1	0	0	0	12199	1252	44	4	3368	4	PLXNA4	7	131887591	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	17604943	131887591	27251072	23	8222											
TRPV6	55503	broad.mit.edu	37	chr7	142573429	142573429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctggtccaggatctggCgagcctgcaacagaaagaga	11	6	14	10	2	2	2	0	0	2	2	3	5	3	3	2	3	3	1	2	3	2	0			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:142573429C>T	uc003wbx.2	-	7	1143	c.914G>A	c.(913-915)cGc>cAc	p.R305H	TRPV6_uc003wbw.1_Missense_Mutation_p.R91H|TRPV6_uc010lou.1_Missense_Mutation_p.R176H	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	305					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGATCTGGCGAGCCTGCAA	0.607													T	142573429	C	T	142573429	3	4	122	1	0	0	0	0	1	0	0	0	16701	768	27	1	1295	1	TRPV6	7	142573429	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10685838	142573429	16565234	24	8223											
ZYX	7791	broad.mit.edu	37	chr7	143080299	143080299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcaccccgaagctcttTctgctggcacaggctcccct	5	9	11	16	1	2	0	0	0	2	0	3	1	3	0	4	4	2	5	4	4	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr7:143080299T>C	uc003wcx.3	+	4	1065	c.907T>C	c.(907-909)Tct>Cct	p.S303P	ZYX_uc011ktd.2_Missense_Mutation_p.S146P|ZYX_uc003wcw.3_Missense_Mutation_p.S303P|ZYX_uc011kte.2_Missense_Mutation_p.S272P|ZYX_uc011ktf.2_Missense_Mutation_p.S146P	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	303					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGAAGCTCTTTCTGCTGGCAC	0.597													C	143080299	T	C	143080299	3	2	122	1	0	0	0	0	1	0	0	0	18351	1783	62	3	921	3	ZYX	7	143080299	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	506870	143080299	16058364	25	8224											
ZFAT	57623	broad.mit.edu	37	chr8	135612748	135612748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtagtcacagccatcGgtgggacacttcagcaagat	11	9	12	9	1	2	2	2	1	0	1	3	3	2	3	1	2	2	3	1	2	2	3	rs144002982	by1000genomes	TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr8:135612748G>A	uc003yup.3	-	6	2592	c.2406C>T	c.(2404-2406)acC>acT	p.T802T	ZFAT_uc003yun.3_Silent_p.T790T|ZFAT_uc003yuo.3_Silent_p.T790T|ZFAT_uc010meh.3_Silent_p.T790T|ZFAT_uc010mej.3_Silent_p.T740T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Silent_p.T790T|ZFAT_uc003yur.3_Silent_p.T790T|ZFAT-AS1_uc003yus.1_Non-coding_Transcript	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	802					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CACAGCCATCGGTGGGACACT	0.448													A	135612748	G	A	135612748	2	1	122	1	0	0	0	0	0	0	0	1	17733	1103	39	1		1	ZFAT	8	135612748	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08		135612748	10751274	26	8225											
KIF20B	9585	broad.mit.edu	37	chr10	91498196	91498196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcttaaagctagaaagaAatttgaaggaatttcaagaa	19	11	7	4	0	3	4	2	1	1	3	3	5	3	5	0	1	1	1	0	1	9	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:91498196A>G	uc001kgs.1	+	19	3670	c.3598A>G	c.(3598-3600)Aat>Gat	p.N1200D	KIF20B_uc001kgr.1_Missense_Mutation_p.N1160D|KIF20B_uc001kgt.1_Missense_Mutation_p.N411D|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1200					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTAGAAAGAAATTTGAAGGA	0.318													G	91498196	A	G	91498196	3	3	122	1	0	0	0	0	1	0	0	0	8345	14	1	3	3552	3	KIF20B	10	91498196	Missense_Mutation	SNP	A	TCGA-12-3653-01A-01D-1495-08		91498196	44036551	27	8226											
ZNF518A	9849	broad.mit.edu	37	chr10	97916083	97916083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acttttttggttaaatcatgCcatctgaacagaaacagtta	14	14	6	7	0	2	2	1	1	1	1	2	2	2	2	1	1	3	2	1	1	5	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr10:97916083C>T	uc001klp.3	+	5	861	c.4C>T	c.(4-6)Cca>Tca	p.P2S	ZNF518A_uc001klo.1_Intron|ZNF518A_uc001klq.3_Missense_Mutation_p.P2S|ZNF518A_uc001klr.3_Missense_Mutation_p.P2S	NM_014803	NP_055618	Q6AHZ1	Z518A_HUMAN	Homo sapiens zinc finger protein 518A (ZNF518A), mRNA.	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		TTAAATCATGCCATCTGAACA	0.308													T	97916083	C	T	97916083	3	4	122	1	0	0	0	0	1	0	0	0	18063	739	26	2	6	2	ZNF518A	10	97916083	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	6417887	97916083	37618664	28	8227											
HEPHL1	341208	broad.mit.edu	37	chr11	93826783	93826783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaaagcccgaccaccacGagaggagcacttagaactcc	14	4	9	14	2	1	2	1	0	0	2	2	6	2	3	4	1	3	1	4	1	3	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:93826783G>A	uc001pep.2	+	12	2568	c.2411G>A	c.(2410-2412)cGa>cAa	p.R804Q	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	804	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CGACCACCACGAGAGGAGCAC	0.483													A	93826783	G	A	93826783	3	1	122	1	0	0	0	0	1	0	0	0	7110	1058	37	1	2461	1	HEPHL1	11	93826783	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		93826783	41179733	29	8228											
PGR	5241	broad.mit.edu	37	chr11	100920711	100920711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaactcttcttggctaaCttgaagcttgacaaactcct	11	12	8	10	0	2	2	0	2	2	0	3	4	3	3	1	2	4	2	1	2	4	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr11:100920711C>A	uc001pgh.2	-	5	3180	c.2437G>T	c.(2437-2439)Gtt>Ttt	p.V813F	PGR_uc001pgg.2_Missense_Mutation_p.V194F|PGR_uc001pgi.2_Missense_Mutation_p.V711F|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	813	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCTTGGCTAACTTGAAGCTTG	0.368													A	100920711	C	A	100920711	3	1	122	1	0	0	0	0	1	0	0	0	11882	565	20	4	376	4	PGR	11	100920711	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	7093928	100920711	34085805	30	8229											
NTF3	4908	broad.mit.edu	37	chr12	5603770	5603770	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggcagccccgtggtggcGaacagaacatcacggcggaa	10	4	16	11	4	1	1	1	0	0	1	1	3	1	2	2	5	3	1	2	5	3	0			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:5603770G>A	uc001qnl.4	+	0	473	c.390G>A	c.(388-390)gcG>gcA	p.A130A	NTF3_uc001qnk.4_Silent_p.A143A	NM_002527	NP_002518	P20783	NTF3_HUMAN	Homo sapiens neurotrophin 3 (NTF3), transcript variant 2, mRNA.	130					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						CCGTGGTGGCGAACAGAACAT	0.602													A	5603770	G	A	5603770	2	1	122	1	0	0	0	0	0	0	0	1	10772	1045	37	1		1	NTF3	12	5603770	Silent	SNP	G	TCGA-12-3653-01A-01D-1495-08		5603770	128248125	31	8230											
C1S	716	broad.mit.edu	37	chr12	7177641	7177641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctgttcgcctcaaggcgGcaaggttacctgtagctcct	6	11	12	12	2	1	0	1	0	0	0	3	0	2	0	3	3	3	6	3	3	4	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr12:7177641G>A	uc001qsj.3	+	14	2472	c.1753G>A	c.(1753-1755)Gca>Aca	p.A585T	C1S_uc001qsk.3_Missense_Mutation_p.A585T|C1S_uc001qsl.3_Missense_Mutation_p.A585T|C1S_uc009zfr.3_Missense_Mutation_p.A418T|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	585	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CCTCAAGGCGGCAAGGTTACC	0.512													A	7177641	G	A	7177641	3	1	122	1	0	0	0	0	1	0	0	0	1994	1203	42	2	1795	2	C1S	12	7177641	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08	1573871	7177641	126674254	32	8231											
SPPL2A	84888	broad.mit.edu	37	chr15	51041869	51041869	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggaagagctgtccaataAgggttataaagcatgcagta	14	10	11	6	0	0	1	0	0	0	1	1	2	1	2	1	2	3	5	1	2	7	5			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr15:51041869A>G	uc001zyv.3	-	1	321	c.141T>C	c.(139-141)ccT>ccC	p.P47P		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	47						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CTGTCCAATAAGGGTTATAAA	0.418													G	51041869	A	G	51041869	2	3	122	1	0	0	0	0	0	0	0	1	15184	59	3	3		3	SPPL2A	15	51041869	Silent	SNP	A	TCGA-12-3653-01A-01D-1495-08		51041869	51489523	33	8232											
ACAP1	9744	broad.mit.edu	37	chr17	7250193	7250193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtgctgtgcagagcagCattgcttctgccttcagtca	7	12	11	11	0	4	1	3	0	1	1	4	1	4	1	1	0	6	5	1	0	0	3			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:7250193C>A	uc002ggd.2	+	12	1280	c.1074C>A	c.(1072-1074)agC>agA	p.S358R		NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	358	PH.|Required for formation of endosomal tubules when overexpressed with PIP5K1C.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						TGCAGAGCAGCATTGCTTCTG	0.637													A	7250193	C	A	7250193	3	1	122	1	0	0	0	0	1	0	0	0	118	709	25	4	1124	4	ACAP1	17	7250193	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08		7250193	73945017	34	8233											
TNS4	84951	broad.mit.edu	37	chr17	38635988	38635988	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtggaccacggtgggCgtggggaggatgtccctctc	6	9	17	9	2	1	1	0	1	1	0	3	4	2	4	2	6	0	0	2	6	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:38635988C>T	uc010cxb.3	-	9	2012	c.1848G>A	c.(1846-1848)acG>acA	p.T616T	TNS4_uc002huu.4_Intron	NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	616	Phosphatase tensin-type.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.P615S(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			CCACGGTGGGCGTGGGGAGGA	0.617													T	38635988	C	T	38635988	2	4	122	1	0	0	0	0	0	0	0	1	16445	755	27	1		1	TNS4	17	38635988	Silent	SNP	C	TCGA-12-3653-01A-01D-1495-08	31385795	38635988	42559222	35	8234											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274446	39274446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacacagcagctggggCgacagtaggtggtcctgcag	9	6	16	10	1	0	0	0	0	0	0	1	2	1	1	1	5	3	4	1	5	1	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:39274446C>T	uc002hvz.3	-	0	161	c.122G>A	c.(121-123)cGc>cAc	p.R41H		NM_033059	NP_149048	Q9BYQ6	KR411_HUMAN	Homo sapiens keratin associated protein 4-11 (KRTAP4-11), mRNA.	41	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGACAGTAGGT	0.667													T	39274446	C	T	39274446	3	4	122	1	0	0	0	0	1	0	0	0	8608	768	27	1	469	1	KRTAP4-11	17	39274446	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	638458	39274446	41920764	36	8235											
ARL4D	379	broad.mit.edu	37	chr17	41477126	41477126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccacttgactgagatggCgcccactgcctcctccttct	7	10	8	16	1	1	2	0	2	1	1	3	4	3	2	5	1	2	0	5	1	1	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr17:41477126C>T	uc002idt.3	+	1	207	c.26C>T	c.(25-27)gCg>gTg	p.A9V	ARL4D_uc021txy.1_Missense_Mutation_p.A9V	NM_001661	NP_001652	P49703	ARL4D_HUMAN	Homo sapiens ADP-ribosylation factor-like 4D (ARL4D), mRNA.	9					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACTGAGATGGCGCCCACTGCC	0.572													T	41477126	C	T	41477126	3	4	122	1	0	0	0	0	1	0	0	0	943	768	27	1	28	1	ARL4D	17	41477126	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	2202680	41477126	39718084	37	8236											
VAV1	7409	broad.mit.edu	37	chr19	6843162	6843162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagggccctcctcaggaccTgtctgttcatctctggtgag	5	13	11	12	0	4	1	2	1	2	0	6	2	5	2	3	3	0	1	3	3	1	2			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:6843162T>C	uc002mfu.1	+	21	2094	c.1997T>C	c.(1996-1998)cTg>cCg	p.L666P	VAV1_uc010xjh.1_Missense_Mutation_p.L634P|VAV1_uc010dva.1_Missense_Mutation_p.L644P|VAV1_uc002mfv.1_Missense_Mutation_p.L611P	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	666					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CCTCAGGACCTGTCTGTTCAT	0.488													C	6843162	T	C	6843162	3	2	122	1	0	0	0	0	1	0	0	0	17233	1580	55	3	2083	3	VAV1	19	6843162	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08		6843162	52285821	38	8237											
ZNF701	55762	broad.mit.edu	37	chr19	53086225	53086228	+	Frame_Shift_Del	DEL	AAGG	AAGG	-																															acaagtgtaatgaatgtggcAaggtttttaatcaacaatca																										TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr19:53086225_53086228delAAGG	uc010ydn.2	+	4	1174_1177	c.1111_1114delAAGG	c.(1111-1116)aaggttfs	p.K371fs	ZNF701_uc002pzs.2_Frame_Shift_Del_p.K305fs|ZNF701_uc021uyw.1_Frame_Shift_Del_p.K371fs	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		TGAATGTGGCAAGGTTTTTAATCA	0.387													-	53086228	AAGG	-	53086225	7	5	122	1	0	1	0	1	0	0	0	0	18206	131	5	0	1125	0	ZNF701	19	53086225	Frame_Shift_Del	DEL	AAGG	TCGA-12-3653-01A-01D-1495-08	46243063	53086225	6042758	39	8238											
ITSN1	6453	broad.mit.edu	37	chr21	35206635	35206635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggaaaaagcgccagataGgctggttcccagctaattat	12	9	12	8	1	0	1	0	0	0	1	1	2	1	2	2	3	2	3	2	3	5	4			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:35206635G>A	uc002yta.1	+	27	3644	c.3376G>A	c.(3376-3378)Ggc>Agc	p.G1126S	DONSON_uc002ysn.1_Intron|ITSN1_uc010gmj.3_Missense_Mutation_p.G1005S|ITSN1_uc002ysy.3_Missense_Mutation_p.G1121S|ITSN1_uc002ysx.3_Missense_Mutation_p.G1084S|ITSN1_uc002yth.4_Non-coding_Transcript|ITSN1_uc002ysz.3_Missense_Mutation_p.G1050S|ITSN1_uc010gmg.3_Missense_Mutation_p.G1013S|ITSN1_uc010gmh.3_Non-coding_Transcript|ITSN1_uc002ysw.3_Missense_Mutation_p.G1126S|ITSN1_uc010gmi.3_Missense_Mutation_p.G1089S|ITSN1_uc002ytb.1_Missense_Mutation_p.G1121S|ITSN1_uc010gmk.3_Missense_Mutation_p.G1018S|ITSN1_uc010gml.3_Non-coding_Transcript|ITSN1_uc002ytd.3_Non-coding_Transcript|ITSN1_uc002ytj.2_Missense_Mutation_p.G1121S|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc002yte.3_Missense_Mutation_p.G989S|ITSN1_uc021wip.1_Missense_Mutation_p.G944S|ITSN1_uc002yti.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1126	SH3 4.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCGCCAGATAGGCTGGTTCCC	0.423													A	35206635	G	A	35206635	3	1	122	1	0	0	0	0	1	0	0	0	7984	1000	35	2	3482	2	ITSN1	21	35206635	Missense_Mutation	SNP	G	TCGA-12-3653-01A-01D-1495-08		35206635	12923260	40	8239											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978262	45978262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaggcttgcagcagaCgggcacacagcagactggct	11	4	14	12	1	0	3	0	0	0	3	0	3	0	3	0	3	3	7	0	3	0	1			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chr21:45978262C>T	uc002zfj.1	-	0	382	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198696	NP_941969	P60369	KR103_HUMAN	Homo sapiens keratin associated protein 10-3 (KRTAP10-3), mRNA.	113	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						ttgcagcagacgggcacacag	0.647													T	45978262	C	T	45978262	3	4	122	1	0	0	0	0	1	0	0	0	8568	536	19	1	332	1	KRTAP10-3	21	45978262	Missense_Mutation	SNP	C	TCGA-12-3653-01A-01D-1495-08	10771627	45978262	2151633	41	8240											
XK	7504	broad.mit.edu	37	chrX	37587132	37587133	+	Frame_Shift_Ins	INS	-	-	C																															ttcttcagtttcttcttgtaINScccctggatcctcttctggt																										TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:37587132_37587133insC	uc004ddq.3	+	2	834_835	c.752_753insC	c.(751-753)tacfs	p.Y251fs		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	251					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TTCTTCTTGTACCCCTGGATCC	0.485													C	37587133	-	C	37587132	7	5	122	1	0	1	1	0	0	0	0	0	17533	391	14	0	762	0	XK	23	37587132	Frame_Shift_Ins	INS	-	TCGA-12-3653-01A-01D-1495-08		37587132	117683428	42	8241											
SMARCA1	6594	broad.mit.edu	37	chrX	128621040	128621040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctcaaatttgtataaactTtgttcaatgtccattctaaa	13	16	3	9	0	3	0	2	0	1	0	4	0	4	0	2	0	1	2	2	0	7	7			TCGA-12-3653-01A-01D-1495-08	TCGA-12-3653-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fdc52d48-828e-481f-ba1c-0264f1da38a5	6d1c37a3-4c31-404f-98b5-bc81876f4080	g.chrX:128621040T>G	uc011muk.1	-	16	2285	c.2172A>C	c.(2170-2172)caA>caC	p.Q724H	SMARCA1_uc004eun.4_Missense_Mutation_p.Q724H|SMARCA1_uc004eup.4_Missense_Mutation_p.Q712H|SMARCA1_uc011mul.1_Missense_Mutation_p.Q712H	NM_003069	NP_003060	P28370	SMCA1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1 (SMARCA1), transcript variant 1, mRNA.	724					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						TGTATAAACTTTGTTCAATGT	0.348													G	128621040	T	G	128621040	3	3	122	1	0	0	0	0	1	0	0	0	14862	1838	64	5	1024	5	SMARCA1	23	128621040	Missense_Mutation	SNP	T	TCGA-12-3653-01A-01D-1495-08	91033908	128621040	26649520	43	8242											
NECAP2	55707	broad.mit.edu	37	chr1	16778338	16778338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttccctctttagaacatGaagaagaaggaaggagcagc	14	8	10	9	0	2	4	0	1	2	3	3	6	3	6	1	2	3	1	1	2	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:16778338G>A	uc001ayq.3	+	5	585	c.495G>A	c.(493-495)atG>atA	p.M165I	NECAP2_uc001ayo.3_Missense_Mutation_p.M165I|NECAP2_uc010ocd.2_Missense_Mutation_p.M139I	NM_001145277	NP_001138749	Q9NVZ3	NECP2_HUMAN	Homo sapiens NECAP endocytosis associated 2 (NECAP2), transcript variant 2, mRNA.	165					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		TTTAGAACATGAAGAAGAAGG	0.602													A	16778338	G	A	16778338	3	1	123	1	0	0	0	0	1	0	0	0	10384	1290	45	2	517	2	NECAP2	1	16778338	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		16778338	232472283	1	8243											
HNRNPR	10236	broad.mit.edu	37	chr1	23648083	23648083	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcttcggaatggatccaAcaaaaagtctgttgtttgcc	11	14	8	8	1	2	0	0	0	2	0	4	2	3	2	2	2	2	2	2	2	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:23648083A>C	uc001bgr.4	-	6	908	c.749T>G	c.(748-750)gTt>gGt	p.V250G	HNRNPR_uc010odw.2_Missense_Mutation_p.V212G|HNRNPR_uc009vql.3_Missense_Mutation_p.V111G|HNRNPR_uc001bgp.4_Missense_Mutation_p.V250G|HNRNPR_uc001bgs.4_Missense_Mutation_p.V149G|HNRNPR_uc009vqk.3_Missense_Mutation_p.V149G|HNRNPR_uc010odx.2_Missense_Mutation_p.V90G	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	250	RRM 2.					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		AATGGATCCAACAAAAAGTCT	0.363													C	23648083	A	C	23648083	3	2	123	1	0	0	0	0	1	0	0	0	7327	43	2	5	1181	5	HNRNPR	1	23648083	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	6869745	23648083	225602538	2	8244											
PUM1	9698	broad.mit.edu	37	chr1	31406150	31406150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggccagaatgtgcttgcCataggtgtacttacgaagag	10	11	12	8	1	0	2	0	0	0	2	0	3	0	2	2	2	4	2	2	2	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:31406150C>T	uc001bsi.1	-	21	3582	c.3469G>A	c.(3469-3471)Ggc>Agc	p.G1157S	PUM1_uc001bsf.1_Missense_Mutation_p.G825S|PUM1_uc001bsh.1_Missense_Mutation_p.G1159S|PUM1_uc001bsj.1_Missense_Mutation_p.G1133S|PUM1_uc010oga.1_Missense_Mutation_p.G1015S|PUM1_uc001bsk.1_Missense_Mutation_p.G1195S|PUM1_uc010ogb.1_Missense_Mutation_p.G1098S	NM_014676	NP_055491	Q14671	PUM1_HUMAN	Homo sapiens pumilio homolog 1 (Drosophila) (PUM1), transcript variant 2, mRNA.	1157	PUM-HD.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		ATGTGCTTGCCATAGGTGTAC	0.537													T	31406150	C	T	31406150	3	4	123	1	0	0	0	0	1	0	0	0	12913	594	21	2	95	2	PUM1	1	31406150	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	7758067	31406150	217844471	3	8245											
KCNQ4	9132	broad.mit.edu	37	chr1	41285881	41285881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaaggtccaggagcagcaCcggcagaagcacttcgagaa	13	4	13	11	2	0	3	0	1	0	2	2	5	1	4	2	3	3	4	2	3	3	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:41285881C>T	uc001cgh.2	+	6	1072	c.990C>T	c.(988-990)caC>caT	p.H330H	KCNQ4_uc001cgi.2_Silent_p.H330H	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	330					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			AGGAGCAGCACCGGCAGAAGC	0.617													T	41285881	C	T	41285881	2	4	123	1	0	0	0	0	0	0	0	1	8143	506	18	2		2	KCNQ4	1	41285881	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	9879731	41285881	207964740	4	8246											
AMPD1	270	broad.mit.edu	37	chr1	115215817	115215817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gataggccatgcggatttggGctacatttgtcctccggata	8	12	12	9	2	0	0	0	0	0	0	2	3	2	2	3	4	2	1	3	4	3	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:115215817G>T	uc001efe.2	-	15	2309	c.2261C>A	c.(2260-2262)gCc>gAc	p.A754D	DENND2C_uc001eez.3_5'Flank|AMPD1_uc001eff.2_Missense_Mutation_p.A750D	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	721					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCGGATTTGGGCTACATTTGT	0.398													T	115215817	G	T	115215817	3	4	123	1	0	0	0	0	1	0	0	0	585	1203	42	4	85	4	AMPD1	1	115215817	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	73929936	115215817	134034804	5	8247											
PDE4DIP	9659	broad.mit.edu	37	chr1	144882550	144882550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggtgttggtgcttcccagGggaaccaaccagttctgtgt	6	13	13	9	0	1	0	0	0	1	0	2	1	2	1	3	4	3	3	3	4	2	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:144882550G>A	uc021ouh.1	-	23	3771	c.3469C>T	c.(3469-3471)Cct>Tct	p.P1157S	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.P1157S|PDE4DIP_uc001elx.4_Intron|PDE4DIP_uc001elv.4_Missense_Mutation_p.P164S	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1157					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGCTTCCCAGGGGAACCAACC	0.522			T	PDGFRB	MPD								A	144882550	G	A	144882550	3	1	123	1	0	0	0	0	1	0	0	0	11719	1232	43	2	3655	2	PDE4DIP	1	144882550	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	29666733	144882550	104368071	6	8248											
IQGAP3	128239	broad.mit.edu	37	chr1	156532968	156532968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcttggcctgggcCagcatctcttggtagacggc	5	12	11	13	1	3	1	0	0	3	1	5	1	3	1	3	4	1	2	3	4	1	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:156532968C>T	uc001fpf.3	-	7	831	c.756G>A	c.(754-756)ctG>ctA	p.L252L	IQGAP3_uc009wsb.1_Silent_p.L209L	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	252					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)					TGGCCTGGGCCAGCATCTCTT	0.572													T	156532968	C	T	156532968	2	4	123	1	0	0	0	0	0	0	0	1	7874	581	21	2		2	IQGAP3	1	156532968	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	11650418	156532968	92717653	7	8249											
KCNT2	343450	broad.mit.edu	37	chr1	196227421	196227421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtagaggttcagtcgctgCtgggttattttttcagctgt	5	17	12	7	1	2	1	2	0	0	1	3	1	2	1	0	2	2	6	0	2	2	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr1:196227421C>A	uc001gtd.1	-	25	3174	c.3114G>T	c.(3112-3114)caG>caT	p.Q1038H	KCNT2_uc009wyt.1_Non-coding_Transcript|KCNT2_uc001gte.1_Missense_Mutation_p.Q971H|KCNT2_uc001gtf.1_Missense_Mutation_p.Q1014H|KCNT2_uc001gtg.1_Non-coding_Transcript|KCNT2_uc001gth.1_Missense_Mutation_p.Q542H	NM_198503	NP_940905	Q6UVM3	KCNT2_HUMAN	Homo sapiens potassium channel, subfamily T, member 2 (KCNT2), mRNA.	1038						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCAGTCGCTGCTGGGTTATTT	0.468													A	196227421	C	A	196227421	3	1	123	1	0	0	0	0	1	0	0	0	8150	796	28	4	305	4	KCNT2	1	196227421	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	39694453	196227421	53023200	8	8250											
MXD1	4084	broad.mit.edu	37	chr2	70164461	70164461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctggagaagctgggcaTtgagaggatccggatggaca	11	6	17	7	1	0	2	0	1	0	2	1	7	1	5	1	5	2	4	1	5	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:70164461T>C	uc002sfy.3	+	4	703	c.413T>C	c.(412-414)aTt>aCt	p.I138T	MXD1_uc010yqp.2_Missense_Mutation_p.I138T|MXD1_uc010yqs.2_Missense_Mutation_p.I128T|MXD1_uc010yqq.2_Missense_Mutation_p.I75T|MXD1_uc010yqr.2_Non-coding_Transcript|MXD1_uc021vix.1_5'Flank	NM_002357	NP_002348	Q05195	MAD1_HUMAN	Homo sapiens MAX dimerization protein 1 (MXD1), transcript variant 1, mRNA.	138					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						AAGCTGGGCATTGAGAGGATC	0.577													C	70164461	T	C	70164461	3	2	123	1	0	0	0	0	1	0	0	0	10075	1493	52	3	431	3	MXD1	2	70164461	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08		70164461	173034912	9	8251											
C2orf51	200523	broad.mit.edu	37	chr2	88828848	88828848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagagtgctgactttccGtgcctcgtggatcccaaaca	8	10	9	14	2	0	2	0	1	0	1	4	3	3	3	4	1	3	1	4	1	1	1	rs148580273		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:88828848G>A	uc002stb.2	+	3	541	c.399G>A	c.(397-399)ccG>ccA	p.P133P		NM_152670	NP_689883	Q96LM6	TSC21_HUMAN	Homo sapiens chromosome 2 open reading frame 51 (C2orf51), mRNA.	133						nucleus				large_intestine(2)|lung(11)|prostate(1)|skin(1)	15						CTGACTTTCCGTGCCTCGTGG	0.572													A	88828848	G	A	88828848	2	1	123	1	0	0	0	0	0	0	0	1	2194	1132	40	1		1	C2orf51	2	88828848	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	18664387	88828848	154370525	10	8252											
NMS	129521	broad.mit.edu	37	chr2	101089991	101089991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgggcacctctttctcGccaacctaaggtaaaaaaat	13	10	7	11	1	3	0	1	0	2	0	4	0	3	0	3	2	1	2	3	2	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:101089991G>A	uc002tan.1	+	2	180	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_001011717	NP_001011717	Q5H8A3	NMS_HUMAN	Homo sapiens neuromedin S (NMS), mRNA.	58					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region		p.R58S(2)		breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						CCTCTTTCTCGCCAACCTAAG	0.343													A	101089991	G	A	101089991	3	1	123	1	0	0	0	0	1	0	0	0	10578	1087	38	1	183	1	NMS	2	101089991	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	12261143	101089991	142109382	11	8253											
TTN	7273	broad.mit.edu	37	chr2	179457532	179457532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttactaggactggctccgGaacatgagctggatctgatt	9	13	11	8	1	1	2	0	2	1	0	2	5	2	5	1	4	3	2	1	4	3	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:179457532G>A	uc021vsy.1	-	248	51835	c.51610C>T	c.(51610-51612)Ccg>Tcg	p.P17204S	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P10899S|TTN_uc021vta.1_Missense_Mutation_p.P10832S|TTN_uc021vtb.1_Missense_Mutation_p.P10707S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18131	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGGCTCCGGAACATGAGCT	0.408													A	179457532	G	A	179457532	3	1	123	1	0	0	0	0	1	0	0	0	16837	1174	41	2	48917	2	TTN	2	179457532	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	78367541	179457532	63741841	12	8254											
FN1	2335	broad.mit.edu	37	chr2	216288171	216288171	+	Frame_Shift_Del	DEL	G	G	-																															tgccctcagaagtgcaatcaGtgtaattgtggttgttgtat																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:216288171delG	uc002vfa.3	-	8	1561	c.1295delC	c.(1294-1296)actfs	p.T432fs	FN1_uc002vfc.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfe.3_Frame_Shift_Del_p.T432fs|FN1_uc002vff.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfg.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfh.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfi.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfj.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfb.3_Frame_Shift_Del_p.T432fs|FN1_uc002vfl.3_Frame_Shift_Del_p.T432fs	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	432	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTGCAATCAGTGTAATTGTG	0.488													-	216288171	G	-	216288171	7	5	123	1	0	1	0	1	0	0	0	0	6011	1029	36	0	6323	0	FN1	2	216288171	Frame_Shift_Del	DEL	G	TCGA-12-5295-01A-01D-1486-08	36830639	216288171	26911202	13	8255											
ZFAND2B	130617	broad.mit.edu	37	chr2	220073015	220073015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcacaagctgtggcttctAcaagcactgtccccagccca	10	7	9	15	0	1	0	0	0	1	0	2	1	2	0	3	1	5	4	3	1	3	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:220073015A>G	uc002vka.3	+	4	644	c.472A>G	c.(472-474)Aca>Gca	p.T158A	ZFAND2B_uc010zkt.2_Missense_Mutation_p.T158A|ZFAND2B_uc010fwd.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vjz.1_Missense_Mutation_p.T158A|ZFAND2B_uc002vkb.1_Missense_Mutation_p.T49A	NM_138802	NP_620157	Q8WV99	ZFN2B_HUMAN	Homo sapiens zinc finger, AN1-type domain 2B (ZFAND2B), mRNA.	158						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGTGGCTTCTACAAGCACTGT	0.552													G	220073015	A	G	220073015	3	3	123	1	0	0	0	0	1	0	0	0	17729	391	14	3	490	3	ZFAND2B	2	220073015	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	3784844	220073015	23126358	14	8256											
SP110	3431	broad.mit.edu	37	chr2	231042927	231042927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcctcaccacaggtcacggGgagcttagaacagtgaaaat	13	6	11	11	2	2	2	2	1	0	1	2	3	2	3	2	3	2	1	2	3	4	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr2:231042927G>T	uc002vqg.3	-	12	1633	c.1393C>A	c.(1393-1395)Ccc>Acc	p.P465T	SP110_uc002vqh.3_Missense_Mutation_p.P465T|SP110_uc002vqi.4_Missense_Mutation_p.P465T|SP110_uc010fxk.3_Missense_Mutation_p.P463T|SP110_uc021vxx.1_Missense_Mutation_p.P471T|SP110_uc010fxj.3_Missense_Mutation_p.P108T	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	465	SAND.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CAGGTCACGGGGAGCTTAGAA	0.413													T	231042927	G	T	231042927	3	4	123	1	0	0	0	0	1	0	0	0	15055	1232	43	4	840	4	SP110	2	231042927	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	10969912	231042927	12156446	15	8257											
RYBP	23429	broad.mit.edu	37	chr3	72427619	72427619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtctgtgctctctgaccCcgagctgctctggttctgct	2	15	10	14	1	4	1	0	1	4	0	5	2	4	1	2	1	4	5	2	1	0	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:72427619C>T	uc003dpe.3	-	3	574	c.574G>A	c.(574-576)Ggg>Agg	p.G192R		NM_012234	NP_036366	Q8N488	RYBP_HUMAN	Homo sapiens RING1 and YY1 binding protein (RYBP), mRNA.	202	Interaction with E4TF1B.|Ser-rich.				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		CTCTCTGACCCCGAGCTGCTC	0.512													T	72427619	C	T	72427619	3	4	123	1	0	0	0	0	1	0	0	0	13857	623	22	2	86	2	RYBP	3	72427619	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		72427619	125594811	16	8258											
NUDT16	131870	broad.mit.edu	37	chr3	131101062	131101062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccacgtcgggtcagggcCacgcgttgtggcccacttct	4	9	12	16	4	2	0	1	0	1	0	4	0	3	0	3	3	0	1	3	3	0	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:131101062C>T	uc003eog.2	+	1	351	c.311C>T	c.(310-312)cCa>cTa	p.P104L	LOC339874_uc003eoc.2_5'Flank|NUDT16_uc021xeb.1_Missense_Mutation_p.P58L|NUDT16_uc021xec.1_Missense_Mutation_p.P104L|NUDT16_uc011bln.2_Missense_Mutation_p.P58L	NM_152395	NP_689608	Q96DE0	NUD16_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 16 (NUDT16), transcript variant 2, mRNA.	104	Nudix hydrolase.					nucleolus|nucleoplasm	hydrolase activity|metal ion binding|RNA binding			large_intestine(1)|lung(6)	7						GGGTCAGGGCCACGCGTTGTG	0.692													T	131101062	C	T	131101062	3	4	123	1	0	0	0	0	1	0	0	0	10808	594	21	2	317	2	NUDT16	3	131101062	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	58673443	131101062	66921368	17	8259											
SPSB4	92369	broad.mit.edu	37	chr3	140866045	140866045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcggccctgggccgccaGcgcctgcaggacatcagctc	5	5	13	18	4	1	0	1	0	0	0	3	1	1	1	4	3	3	3	4	3	0	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr3:140866045G>A	uc003ett.3	+	2	1001	c.756G>A	c.(754-756)caG>caA	p.Q252Q	SPSB4_uc010hum.3_3'UTR	NM_080862	NP_543138	Q96A44	SPSB4_HUMAN	Homo sapiens splA/ryanodine receptor domain and SOCS box containing 4 (SPSB4), mRNA.	252	SOCS box.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						TGGGCCGCCAGCGCCTGCAGG	0.617													A	140866045	G	A	140866045	2	1	123	1	0	0	0	0	0	0	0	1	15211	962	34	2		2	SPSB4	3	140866045	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	9764983	140866045	57156385	18	8260											
DRD5	1816	broad.mit.edu	37	chr4	9783859	9783859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccatcgtgcggagccGccacctgcgcgccaacatga	8	4	12	17	6	0	1	0	1	0	0	1	2	0	2	5	1	5	1	5	1	1	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:9783859G>A	uc003gmb.4	+	0	602	c.206G>A	c.(205-207)cGc>cAc	p.R69H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	69					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GTGCGGAGCCGCCACCTGCGC	0.647													A	9783859	G	A	9783859	3	1	123	1	0	0	0	0	1	0	0	0	4799	1087	38	1	208	1	DRD5	4	9783859	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		9783859	181370417	19	8261											
FGFBP1	9982	broad.mit.edu	37	chr4	15938124	15938124	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttaatctgggtgttGcccagagtgtccttttgttc	4	18	10	9	0	2	1	0	0	2	1	4	1	3	1	2	1	2	3	2	1	1	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:15938124G>T	uc003gom.3	-	2	427	c.132C>A	c.(130-132)ggC>ggA	p.G44G	FGFBP1_uc021xml.1_Silent_p.G44G	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	44					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TCTGGGTGTTGCCCAGAGTGT	0.517													T	15938124	G	T	15938124	2	4	123	1	0	0	0	0	0	0	0	1	5909	1306	46	4		4	FGFBP1	4	15938124	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	6154265	15938124	175216152	20	8262											
RFC1	5981	broad.mit.edu	37	chr4	39306546	39306546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtagctgtatcccaaCtcctaatcaaaatattggaa	14	11	5	11	1	1	0	1	0	0	0	4	1	4	1	3	1	2	3	3	1	8	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:39306546C>A	uc003gty.2	-	14	2141	c.2001G>T	c.(1999-2001)gaG>gaT	p.E667D	RFC1_uc003gtx.2_Missense_Mutation_p.E666D	NM_001204747	NP_001191676	P35251	RFC1_HUMAN	Homo sapiens replication factor C (activator 1) 1, 145kDa (RFC1), transcript variant 2, mRNA.	667					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433													A	39306546	C	A	39306546	3	1	123	1	0	0	0	0	1	0	0	0	13332	564	20	4	1489	4	RFC1	4	39306546	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	23368422	39306546	151847730	21	8263											
LIMCH1	22998	broad.mit.edu	37	chr4	41621353	41621353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaacaaaagcaatcagacGgcctacgtccccgcgcctct	11	5	8	17	5	2	1	1	0	1	1	3	2	3	1	5	1	3	1	5	1	5	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:41621353G>A	uc003gvz.4	+	5	771	c.354G>A	c.(352-354)acG>acA	p.T118T	LIMCH1_uc003gvt.1_Silent_p.T118T|LIMCH1_uc003gwe.4_Silent_p.T277T|LIMCH1_uc003gvu.4_Silent_p.T277T|LIMCH1_uc003gvv.4_Silent_p.T277T|LIMCH1_uc003gvw.4_Silent_p.T277T|LIMCH1_uc003gvx.4_Silent_p.T277T|LIMCH1_uc003gvy.4_Silent_p.T118T|LIMCH1_uc003gwa.4_Silent_p.T118T|LIMCH1_uc011byu.2_Silent_p.T123T|LIMCH1_uc003gwc.4_Silent_p.T123T|LIMCH1_uc003gwd.4_Silent_p.T123T|LIMCH1_uc011byv.2_Silent_p.T28T|LIMCH1_uc003gwb.1_Silent_p.T125T	NM_014988	NP_055803	Q9UPQ0	LIMC1_HUMAN	Homo sapiens LIM and calponin homology domains 1 (LIMCH1), transcript variant 1, mRNA.	277	CH.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GCAATCAGACGGCCTACGTCC	0.567													A	41621353	G	A	41621353	2	1	123	1	0	0	0	0	0	0	0	1	8857	1103	39	1		1	LIMCH1	4	41621353	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	2314807	41621353	149532923	22	8264											
UGT2B11	10720	broad.mit.edu	37	chr4	70080048	70080048	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcataactttcttatttgaAactacatctttacagaagtt	13	18	3	7	0	3	2	1	1	2	1	3	2	3	2	0	0	4	1	0	0	6	9			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:70080048A>C	uc003heh.3	-	0	402	c.393T>G	c.(391-393)gtT>gtG	p.V131V	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	131					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTTATTTGAAACTACATCTT	0.343													C	70080048	A	C	70080048	2	2	123	1	0	0	0	0	0	0	0	1	17059	1	1	5		5	UGT2B11	4	70080048	Silent	SNP	A	TCGA-12-5295-01A-01D-1486-08	28458695	70080048	121074228	23	8265											
FRAS1	80144	broad.mit.edu	37	chr4	79295398	79295398	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatcatgcaaagcacaaAtgcacaggtaacttggagac	16	6	10	9	0	1	2	1	0	0	2	1	3	1	2	0	2	4	5	0	2	3	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:79295398A>T	uc003hlb.2	+	24	3584	c.3144A>T	c.(3142-3144)aaA>aaT	p.K1048N	FRAS1_uc003hkw.3_Missense_Mutation_p.K1048N	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1047					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CAAAGCACAAATGCACAGGTA	0.473													T	79295398	A	T	79295398	3	4	123	1	0	0	0	0	1	0	0	0	6093	98	4	5	3242	5	FRAS1	4	79295398	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	9215350	79295398	111858878	24	8266											
NDST4	64579	broad.mit.edu	37	chr4	115767016	115767016	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctgaggggtcaatgAggatggtgatgatcttggct	7	12	15	7	0	3	4	1	4	2	0	3	5	3	5	1	5	0	1	1	5	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:115767016A>G	uc003ibu.3	-	9	2757	c.2078T>C	c.(2077-2079)cTc>cCc	p.L693P	NDST4_uc010imw.3_Non-coding_Transcript	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	693	Heparan sulfate N-sulfotransferase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGGGTCAATGAGGATGGTGAT	0.428													G	115767016	A	G	115767016	3	3	123	1	0	0	0	0	1	0	0	0	10334	304	11	3	560	3	NDST4	4	115767016	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	36471618	115767016	75387260	25	8267											
ODZ3	55714	broad.mit.edu	37	chr4	183658027	183658027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacttgagttccagagctGcagggtataagtcagttctc	9	12	10	10	0	2	2	1	1	1	1	4	2	3	2	2	1	3	5	2	1	3	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:183658027G>T	uc003ivd.1	+	15	3109	c.3034G>T	c.(3034-3036)Gca>Tca	p.A1012S	ODZ3_uc003ive.1_Missense_Mutation_p.A418S	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1012					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		TTCCAGAGCTGCAGGGTATAA	0.388													T	183658027	G	T	183658027	3	4	123	1	0	0	0	0	1	0	0	0	10912	1319	46	4	3096	4	ODZ3	4	183658027	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	67891011	183658027	7496249	26	8268											
TRIML1	339976	broad.mit.edu	37	chr4	189063477	189063477	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagttcctgaaggaagaGgagcagctgcaactccagct	12	6	11	12	0	0	2	0	1	0	1	2	4	2	4	3	2	5	5	3	2	3	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr4:189063477G>C	uc003izm.1	+	2	691	c.576G>C	c.(574-576)gaG>gaC	p.E192D	TRIML1_uc003izn.1_5'Flank	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	192					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGAAGGAAGAGGAGCAGCTGC	0.438													C	189063477	G	C	189063477	3	2	123	1	0	0	0	0	1	0	0	0	16651	991	35	4	586	4	TRIML1	4	189063477	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	5405450	189063477	2090799	27	8269											
G3BP1	10146	broad.mit.edu	37	chr5	151180343	151180343	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaaacgtggtggagttGcgcattaacagtggtgggaa	11	10	16	4	2	0	0	0	0	0	0	0	3	0	3	0	5	3	2	0	5	4	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:151180343G>T	uc003lun.3	+	10	1278	c.1107G>T	c.(1105-1107)ttG>ttT	p.L369F	G3BP1_uc003lum.3_Missense_Mutation_p.L369F|G3BP1_uc011dcu.2_Missense_Mutation_p.L187F|G3BP1_uc010jhz.3_Missense_Mutation_p.L187F|G3BP1_uc003luq.3_Missense_Mutation_p.L37F	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	369	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGGTGGAGTTGCGCATTAACA	0.388													T	151180343	G	T	151180343	3	4	123	1	0	0	0	0	1	0	0	0	6193	1310	46	4	1145	4	G3BP1	5	151180343	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		151180343	29734917	28	8270											
GRIA1	2890	broad.mit.edu	37	chr5	153030021	153030021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggagaagaaaaaggagCggctggtggtggtggactgt	11	7	18	5	1	0	2	0	0	0	2	0	5	0	4	1	7	1	1	1	7	3	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:153030021C>T	uc011dcy.2	+	3	649	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W	GRIA1_uc003lva.4_Missense_Mutation_p.R198W|GRIA1_uc003luy.4_Missense_Mutation_p.R198W|GRIA1_uc003luz.4_Missense_Mutation_p.R103W|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R118W|GRIA1_uc011dcx.2_Missense_Mutation_p.R129W|GRIA1_uc011dcz.2_Missense_Mutation_p.R208W|GRIA1_uc010jia.1_Missense_Mutation_p.R178W	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	198					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R208C(2)|p.R208R(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GAAAAAGGAGCGGCTGGTGGT	0.542													T	153030021	C	T	153030021	3	4	123	1	0	0	0	0	1	0	0	0	6822	759	27	1	606	1	GRIA1	5	153030021	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1849678	153030021	27885239	29	8271											
CCNG1	900	broad.mit.edu	37	chr5	162869506	162869506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttctgggcgtactgcaCggcaattgaagcatagctac	9	12	11	9	2	1	1	0	1	1	0	1	1	1	1	0	2	5	6	0	2	5	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr5:162869506C>T	uc003lzb.3	+	5	1057	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	CCNG1_uc011dek.1_Missense_Mutation_p.R139W|CCNG1_uc011del.2_Missense_Mutation_p.R139W|CCNG1_uc003lzc.3_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	275				RQLKHSYYRITHLPTIPEMVP -> LKWSLNWIITAPKNFS EAFLHNLVLWIP (in Ref. 4; AAB03903).	cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		GCGTACTGCACGGCAATTGAA	0.378													T	162869506	C	T	162869506	3	4	123	1	0	0	0	0	1	0	0	0	2953	527	19	1	841	1	CCNG1	5	162869506	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	9839485	162869506	18045754	30	8272											
PPP1R11	6992	broad.mit.edu	37	chr6	30035220	30035220	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgggctgagcgagacCgtcactgagacaacggttac	9	6	16	10	3	1	3	1	2	0	2	1	5	1	3	1	4	3	3	1	4	2	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:30035220C>A	uc003npb.3	+	0	289	c.33C>A	c.(31-33)acC>acA	p.T11T	PPP1R11_uc010jrw.3_Non-coding_Transcript|PPP1R11_uc003npc.3_Non-coding_Transcript	NM_021959	NP_068778	O60927	PP1RB_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 11 (PPP1R11), mRNA.	11						soluble fraction	protein binding|protein phosphatase inhibitor activity			lung(2)|ovary(1)|prostate(1)|skin(2)	6						TGAGCGAGACCGTCACTGAGA	0.632													A	30035220	C	A	30035220	2	1	123	1	0	0	0	0	0	0	0	1	12435	639	23	4		4	PPP1R11	6	30035220	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08		30035220	141079847	31	8273											
ENPP4	22875	broad.mit.edu	37	chr6	46107333	46107333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcattatgaagttattaGtaatacttttgttttctgga	10	21	7	3	0	2	1	1	1	1	0	2	2	2	2	0	1	1	4	0	1	6	10			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:46107333G>C	uc003oxy.3	+	1	272	c.13G>C	c.(13-15)Gta>Cta	p.V5L		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	5						integral to membrane	hydrolase activity	p.L4L(1)		central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GAAGTTATTAGTAATACTTTT	0.343													C	46107333	G	C	46107333	3	2	123	1	0	0	0	0	1	0	0	0	5173	1029	36	4	15	4	ENPP4	6	46107333	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	16072113	46107333	125007734	32	8274											
COL9A1	1297	broad.mit.edu	37	chr6	71004007	71004007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagcactactcctctccaCgccaatcatgatcttatgcc	10	11	5	15	1	3	1	1	1	2	0	5	1	4	1	4	0	3	2	4	0	4	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:71004007C>T	uc003pfg.4	-	4	718	c.559G>A	c.(559-561)Gtg>Atg	p.V187M		NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	187	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.V187L(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTCCTCTCCACGCCAATCATG	0.433													T	71004007	C	T	71004007	3	4	123	1	0	0	0	0	1	0	0	0	3738	536	19	1	2418	1	COL9A1	6	71004007	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	24896674	71004007	100111060	33	8275											
TTK	7272	broad.mit.edu	37	chr6	80741263	80741263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attaaagcagataggaagtgGaggttcaagcaaggtaagta	17	8	13	3	0	1	1	1	0	0	1	1	3	1	3	0	4	2	5	0	4	8	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:80741263G>A	uc003pjc.3	+	13	1712	c.1601G>A	c.(1600-1602)gGa>gAa	p.G534E	TTK_uc003pjb.4_Missense_Mutation_p.G533E	NM_003318	NP_003309	P33981	TTK_HUMAN	Homo sapiens TTK protein kinase (TTK), transcript variant 1, mRNA.	534	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		ATAGGAAGTGGAGGTTCAAGC	0.279													A	80741263	G	A	80741263	3	1	123	1	0	0	0	0	1	0	0	0	16822	1174	41	2	1651	2	TTK	6	80741263	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	9737256	80741263	90373804	34	8276											
TMEM181	57583	broad.mit.edu	37	chr6	159050767	159050767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgacagcaccaccagccGagttcttatctttctatggc	8	12	7	14	1	3	1	0	1	3	0	3	2	3	1	4	1	2	2	4	1	2	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr6:159050767G>A	uc003qrm.4	+	14	1620	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K		NM_020823	NP_065874	Q9P2C4	TM181_HUMAN	Homo sapiens transmembrane protein 181 (TMEM181), mRNA.	537					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		ACCACCAGCCGAGTTCTTATC	0.542													A	159050767	G	A	159050767	3	1	123	1	0	0	0	0	1	0	0	0	16200	1059	37	1	1667	1	TMEM181	6	159050767	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	78309504	159050767	12064300	35	8277											
FKBP9	11328	broad.mit.edu	37	chr7	33044873	33044873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgattgtgaagaatatGttcaccaaccaggaccggaa	14	8	11	8	1	1	3	1	2	0	1	1	6	1	5	3	2	2	2	3	2	5	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:33044873G>A	uc011kal.2	+	10	1963	c.1782G>A	c.(1780-1782)atG>atA	p.M594I	AVL9_uc011kai.2_Intron|FKBP9_uc011kak.1_Non-coding_Transcript|FKBP9_uc003tdh.3_Missense_Mutation_p.M541I|FKBP9_uc011kam.2_Missense_Mutation_p.M309I	NM_007270	NP_009201	O95302	FKBP9_HUMAN	Homo sapiens FK506 binding protein 9, 63 kDa (FKBP9), mRNA.	541					protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			TGAAGAATATGTTCACCAACC	0.493													A	33044873	G	A	33044873	3	1	123	1	0	0	0	0	1	0	0	0	5964	1377	48	2	1661	2	FKBP9	7	33044873	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		33044873	126093790	36	8278											
STK17A	9263	broad.mit.edu	37	chr7	43622866	43622866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctttggagaagccaggCagcggcggctcctccccagg	7	6	13	15	2	0	1	0	0	0	1	3	2	3	1	5	5	2	2	5	5	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:43622866C>T	uc003tih.3	+	0	175	c.24C>T	c.(22-24)ggC>ggT	p.G8G		NM_004760	NP_004751	Q9UEE5	ST17A_HUMAN	Homo sapiens serine/threonine kinase 17a (STK17A), mRNA.	8					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						AGAAGCCAGGCAGCGGCGGCT	0.766													T	43622866	C	T	43622866	2	4	123	1	0	0	0	0	0	0	0	1	15386	697	25	2		2	STK17A	7	43622866	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	10577993	43622866	115515797	37	8279											
SLC26A5	375611	broad.mit.edu	37	chr7	103048353	103048353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctttaaatctctcattaAactccttgccacccaacagc	11	13	2	15	0	3	0	1	0	2	0	6	0	4	0	3	0	4	0	3	0	5	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:103048353A>T	uc003vbz.3	-	7	1095	c.833T>A	c.(832-834)tTt>tAt	p.F278Y	SLC26A5_uc003vbt.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbu.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbv.2_Missense_Mutation_p.F278Y|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Missense_Mutation_p.F278Y	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	278					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TCTCTCATTAAACTCCTTGCC	0.468													T	103048353	A	T	103048353	3	4	123	1	0	0	0	0	1	0	0	0	14614	14	1	5	1494	5	SLC26A5	7	103048353	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	59425487	103048353	56090310	38	8280											
CFTR	1080	broad.mit.edu	37	chr7	117306983	117306983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatagaagagaacaaagtgCggcagtacgattccatccag	15	7	10	9	2	1	2	1	0	0	2	3	4	3	2	2	1	3	2	2	1	5	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:117306983C>T	uc003vjd.3	+	26	4396	c.4264C>T	c.(4264-4266)Cgg>Tgg	p.R1422W	CFTR_uc011knq.2_Missense_Mutation_p.R828W	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	1422	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAACAAAGTGCGGCAGTACGA	0.552									Cystic Fibrosis				T	117306983	C	T	117306983	3	4	123	1	0	0	0	0	1	0	0	0	3324	759	27	1	4370	1	CFTR	7	117306983	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	14258630	117306983	41831680	39	8281											
KIAA1549	57670	broad.mit.edu	37	chr7	138546043	138546043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgggggccacgaGggcaaaggcgtcgtccagga	7	5	18	11	3	0	0	0	0	0	0	2	2	1	1	2	6	1	3	2	6	1	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:138546043G>C	uc011kql.2	-	15	5138	c.5089C>G	c.(5089-5091)Ctc>Gtc	p.L1697V	KIAA1549_uc011kqi.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqk.2_Missense_Mutation_p.L481V|KIAA1549_uc011kqj.2_Missense_Mutation_p.L1697V	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1697						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGGCCACGAGGGCAAAGGCG	0.697			O	BRAF	pilocytic astrocytoma								C	138546043	G	C	138546043	3	2	123	1	0	0	0	0	1	0	0	0	8302	1000	35	4	783	4	KIAA1549	7	138546043	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	21239060	138546043	20592620	40	8282											
PARP12	64761	broad.mit.edu	37	chr7	139727128	139727128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcgctcaatcttctgaaCaaagtagaaaggcagcgtgc	13	9	9	10	2	3	2	1	1	2	1	4	2	3	2	0	1	4	3	0	1	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:139727128C>A	uc003vvl.1	-	9	2450	c.1576G>T	c.(1576-1578)Gtt>Ttt	p.V526F	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	526	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					ATCTTCTGAACAAAGTAGAAA	0.512													A	139727128	C	A	139727128	3	1	123	1	0	0	0	0	1	0	0	0	11533	478	17	4	541	4	PARP12	7	139727128	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1181085	139727128	19411535	41	8283											
OR2A14	135941	broad.mit.edu	37	chr7	143826811	143826811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtcatctttgcagcctgCgtgttcatcctggtggggcc	3	13	14	11	1	3	0	2	0	1	0	4	0	4	0	3	4	3	2	3	4	0	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:143826811C>T	uc011kua.2	+	0	606	c.606C>T	c.(604-606)tgC>tgT	p.C202C		NM_001001659	NP_001001659	Q96R47	O2A14_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 14 (OR2A14), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TTGCAGCCTGCGTGTTCATCC	0.577													T	143826811	C	T	143826811	2	4	123	1	0	0	0	0	0	0	0	1	11052	776	27	1		1	OR2A14	7	143826811	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	4099683	143826811	15311852	42	8284											
CNTNAP2	26047	broad.mit.edu	37	chr7	147092850	147092850	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtttcgcgaatgtcagcattGacatgtgtgcgatcatagac	10	12	11	8	3	2	2	2	1	0	1	3	4	2	2	0	0	2	2	0	0	2	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr7:147092850G>C	uc003weu.2	+	9	2164	c.1648G>C	c.(1648-1650)Gac>Cac	p.D550H	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	550	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.D550N(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGTCAGCATTGACATGTGTGC	0.428										HNSCC(39;0.1)			C	147092850	G	C	147092850	3	2	123	1	0	0	0	0	1	0	0	0	3678	1290	45	4	1686	4	CNTNAP2	7	147092850	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	3266039	147092850	12045813	43	8285											
DLC1	10395	broad.mit.edu	37	chr8	13251148	13251148	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaagacaaatttactcGtgtctgatttactgaaatgg	13	13	9	6	1	2	4	1	2	1	2	3	4	2	4	0	1	2	0	0	1	5	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:13251148G>A	uc003wwm.2	-	3	1672	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DLC1_uc003wwn.3_Nonsense_Mutation_p.R410*|DLC1_uc011kxy.2_Nonsense_Mutation_p.R410*	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	410					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.R410L(4)|p.R410*(3)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAATTTACTCGTGTCTGATTT	0.423													A	13251148	G	A	13251148	4	1	123	1	0	0	0	0	0	1	0	0	4589	1153	40	1	3503	1	DLC1	8	13251148	Nonsense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		13251148	133112874	44	8286											
MTUS1	57509	broad.mit.edu	37	chr8	17573333	17573333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggataccaaaggcttcaaatAaaaggatcctgaggaaccat	17	7	9	8	0	1	1	1	1	0	0	2	4	2	4	3	4	2	1	3	4	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:17573333A>G	uc003wxv.3	-	4	3001	c.2527T>C	c.(2527-2529)Tat>Cat	p.Y843H	MTUS1_uc003wxt.3_Missense_Mutation_p.Y90H|MTUS1_uc011kyg.2_5'UTR|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.Y789H	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	843						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGCTTCAAATAAAAGGATCCT	0.428													G	17573333	A	G	17573333	3	3	123	1	0	0	0	0	1	0	0	0	10041	362	13	3	1454	3	MTUS1	8	17573333	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	4322185	17573333	128790689	45	8287											
ATAD2	29028	broad.mit.edu	37	chr8	124382139	124382139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgattctcttcttctccatCttcttcatcttcatcatctt	5	21	1	14	0	10	1	3	1	7	0	12	1	10	1	1	0	0	0	1	0	0	7			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr8:124382139C>T	uc003yqh.4	-	6	961	c.853G>A	c.(853-855)Gat>Aat	p.D285N	ATAD2_uc011lii.2_Missense_Mutation_p.D76N|ATAD2_uc003yqi.4_Non-coding_Transcript|ATAD2_uc003yqj.3_Missense_Mutation_p.D285N	NM_014109	NP_054828	Q6PL18	ATAD2_HUMAN	Homo sapiens ATPase family, AAA domain containing 2 (ATAD2), mRNA.	285	Asp-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			tcttctccatcttcttcatct	0.358													T	124382139	C	T	124382139	3	4	123	1	0	0	0	0	1	0	0	0	1076	913	32	2	3407	2	ATAD2	8	124382139	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	106808806	124382139	21981883	46	8288											
FREM1	158326	broad.mit.edu	37	chr9	14789086	14789086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgcatttcatgccaggGgagagaggaacccagtccct	10	8	13	10	0	1	2	1	1	0	1	2	5	2	4	3	3	3	1	3	3	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:14789086G>A	uc003zlm.3	-	23	4824	c.4008C>T	c.(4006-4008)tcC>tcT	p.S1336S	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1336					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCATGCCAGGGGAGAGAGGAA	0.493													A	14789086	G	A	14789086	2	1	123	1	0	0	0	0	0	0	0	1	6096	1219	43	2		2	FREM1	9	14789086	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08		14789086	126424345	47	8289											
TEK	7010	broad.mit.edu	37	chr9	27205000	27205000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgctgttggcctttctGatcatattgcaattgaagag	9	15	10	7	0	2	3	1	2	1	1	2	3	2	3	1	1	2	3	1	1	3	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:27205000G>A	uc011lno.2	+	12	2614	c.2172G>A	c.(2170-2172)ctG>ctA	p.L724L	TEK_uc003zqi.4_Silent_p.L767L|TEK_uc011lnp.2_Silent_p.L620L|TEK_uc003zqj.1_Silent_p.L701L	NM_000459	NP_000450	Q02763	TIE2_HUMAN	Homo sapiens TEK tyrosine kinase, endothelial (TEK), mRNA.	767	Fibronectin type-III 3.		A -> T (in dbSNP:rs4631561).		angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.P723T(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TGGCCTTTCTGATCATATTGC	0.517													A	27205000	G	A	27205000	2	1	123	1	0	0	0	0	0	0	0	1	15851	1277	45	2		2	TEK	9	27205000	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	12415914	27205000	114008431	48	8290											
UBAP1	51271	broad.mit.edu	37	chr9	34234331	34234331	+	Frame_Shift_Del	DEL	A	A	-																															ttgtttgcaggttgtcagagAagtacaggtaagtggtaatt																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:34234331delA	uc022bfy.1	+	3	550	c.152delA	c.(151-153)gaafs	p.E51fs	UBAP1_uc010mka.2_Intron|UBAP1_uc003zty.3_Frame_Shift_Del_p.E51fs|UBAP1_uc022bfz.1_Frame_Shift_Del_p.E51fs|UBAP1_uc003ztx.3_Frame_Shift_Del_p.E51fs|UBAP1_uc011loj.2_Frame_Shift_Del_p.E115fs|UBAP1_uc011loi.2_Intron|KIF24_uc010mkb.3_Intron|UBAP1_uc003ztz.3_Frame_Shift_Del_p.E51fs	NM_001171203	NP_057609	Q9NZ09	UBAP1_HUMAN	Homo sapiens ubiquitin associated protein 1 (UBAP1), transcript variant 2, mRNA.	51	UMA.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			GTTGTCAGAGAAGTACAGGTA	0.338													-	34234331	A	-	34234331	7	5	123	1	0	1	0	1	0	0	0	0	16938	246	9	0	395	0	UBAP1	9	34234331	Frame_Shift_Del	DEL	A	TCGA-12-5295-01A-01D-1486-08	7029331	34234331	106979100	49	8291											
VPS13A	23230	broad.mit.edu	37	chr9	79985216	79985216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgtggaaggaatggcacTaggacttaaggcactagttg	11	11	14	5	0	0	0	0	0	0	0	0	3	0	3	0	5	0	4	0	5	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr9:79985216T>C	uc004akr.3	+	63	8971	c.8711T>C	c.(8710-8712)cTa>cCa	p.L2904P	VPS13A_uc004akp.4_Missense_Mutation_p.L2904P|VPS13A_uc004akq.4_Missense_Mutation_p.L2904P|VPS13A_uc004aks.3_Missense_Mutation_p.L2865P	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	2904					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGAATGGCACTAGGACTTAAG	0.383													C	79985216	T	C	79985216	3	2	123	1	0	0	0	0	1	0	0	0	17291	1522	53	3	8965	3	VPS13A	9	79985216	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	45750885	79985216	61228215	50	8292											
BTAF1	9044	broad.mit.edu	37	chr10	93756207	93756207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatggctgctcgttgtgtaGgtgtcatgagcaaaatagct	10	12	12	7	1	1	1	1	1	0	0	2	1	1	1	0	2	3	6	0	2	4	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:93756207G>A	uc001khr.3	+	23	3489	c.3391G>A	c.(3391-3393)Ggt>Agt	p.G1131S	BTAF1_uc001kht.1_Missense_Mutation_p.G569S	NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1131					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TCGTTGTGTAGGTGTCATGAG	0.423													A	93756207	G	A	93756207	3	1	123	1	0	0	0	0	1	0	0	0	1545	1000	35	2	3485	2	BTAF1	10	93756207	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		93756207	41778540	51	8293											
CYP2C19	1562	broad.mit.edu	37	chr10	96447958	96447958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgcggaattttgggatGgggaagaggagcatcgagga	11	8	17	5	2	1	1	0	0	1	1	2	7	1	6	0	6	2	1	0	6	2	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:96447958G>A	uc001kjv.4	+	2	734	c.408G>A	c.(406-408)atG>atA	p.M136I	CYP2C19_uc001kjw.4_Missense_Mutation_p.M136I|CYP2C19_uc009xus.1_Missense_Mutation_p.M1I|CYP2C19_uc010qny.2_5'UTR	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	136					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	ATTTTGGGATGGGGAAGAGGA	0.478													A	96447958	G	A	96447958	3	1	123	1	0	0	0	0	1	0	0	0	4199	1348	47	2		2	CYP2C19	10	96447958	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	2691751	96447958	39086789	52	8294											
TDRD1	56165	broad.mit.edu	37	chr10	115947725	115947725	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctttaagaagtcctggAacacttcctaaccaccctaa	13	10	6	12	0	1	1	0	0	1	1	3	3	3	2	4	1	2	0	4	1	5	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr10:115947725A>G	uc001lbg.1	+	1	288	c.135A>G	c.(133-135)ggA>ggG	p.G45G	TDRD1_uc001lbf.3_Silent_p.G36G|TDRD1_uc001lbh.1_Silent_p.G36G|TDRD1_uc001lbi.1_Silent_p.G36G	NM_198795	NP_942090	Q9BXT4	TDRD1_HUMAN	Homo sapiens tudor domain containing 1 (TDRD1), mRNA.	45					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GAAGTCCTGGAACACTTCCTA	0.358													G	115947725	A	G	115947725	2	3	123	1	0	0	0	0	0	0	0	1	15830	233	9	3		3	TDRD1	10	115947725	Silent	SNP	A	TCGA-12-5295-01A-01D-1486-08	19499767	115947725	19587022	53	8295											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G																															tacagcagctggactgggagCagctgggcttgcagcagctg																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629152C>G	uc001ltw.1	-	0	542	c.464G>C	c.(463-465)tGc>tCc	p.C155S	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													G	1629152	C	G	1629152	3	3	123	1	0	0	0	0	1	0	0	0	8621	710	25	4	256	4	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		1629152	133377364	54	8296	12	2									
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629156	1629156	+	Missense_Mutation	SNP	T	T	A																															gcagctggactgggagcagcTgggcttgcagcagctggact																								rs75371407		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:1629156T>A	uc001ltw.1	-	0	538	c.460A>T	c.(460-462)Agc>Tgc	p.S154C	MOB2_uc001ltq.2_Intron	NM_001012708	NP_001012726	Q6L8H2	KRA53_HUMAN	Homo sapiens keratin associated protein 5-3 (KRTAP5-3), mRNA.	154	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		TGGGAGCAGCTGGGCTTGCAG	0.627													A	1629156	T	A	1629156	3	1	123	1	0	0	0	0	1	0	0	0	8621	1580	55	5	260	5	KRTAP5-3	11	1629156	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	4	1629156	133377360	55	8297	12	2									
OR51G1	79324	broad.mit.edu	37	chr11	4945317	4945317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtatcaaaccagaaaatgcCcagcacagtgggcagtgtgg	13	6	13	9	0	1	1	1	0	0	1	1	1	1	1	2	3	3	3	2	3	4	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:4945317C>T	uc010qyr.2	-	0	253	c.253G>A	c.(253-255)Ggc>Agc	p.G85S		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGAAAATGCCCAGCACAGTG	0.483													T	4945317	C	T	4945317	3	4	123	1	0	0	0	0	1	0	0	0	11174	623	22	2	714	2	OR51G1	11	4945317	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	3316161	4945317	130061199	56	8298											
OR10A6	390093	broad.mit.edu	37	chr11	7949483	7949483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacagatgtgaggtgagCggcacaggtggaaaaggcct	11	6	17	7	1	1	3	1	2	0	1	1	4	1	4	1	6	1	1	1	6	2	0			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:7949483C>T	uc010rbh.2	-	0	727	c.727G>A	c.(727-729)Gct>Act	p.A243T		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTGAGGTGAGCGGCACAGGTG	0.453													T	7949483	C	T	7949483	3	4	123	1	0	0	0	0	1	0	0	0	10970	768	27	1	220	1	OR10A6	11	7949483	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	3004166	7949483	127057033	57	8299											
KCNA4	3739	broad.mit.edu	37	chr11	30033870	30033870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcactcagctccCtcaggatcttctcctcagag	6	11	5	19	0	6	1	4	0	2	1	10	2	9	2	5	1	1	1	5	1	0	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:30033870C>T	uc021qfi.1	-	0	356	c.356G>A	c.(355-357)aGg>aAg	p.R119K	KCNA4_uc001msk.3_Missense_Mutation_p.R119K	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	119						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACTCAGCTCCCTCAGGATCTT	0.542													T	30033870	C	T	30033870	3	4	123	1	0	0	0	0	1	0	0	0	8063	681	24	2	1609	2	KCNA4	11	30033870	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	22084387	30033870	104972646	58	8300											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349460	65349460	+	Frame_Shift_Del	DEL	A	A	-																															agacatgtggacactaagggAccagaggcgacaggggtgat																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:65349460delA	uc001oeo.4	+	8	1582	c.1317delA	c.(1315-1317)ggafs	p.G439fs		NM_001099409	NP_001092879	Q8N3D4	EH1L1_HUMAN	Homo sapiens EH domain binding protein 1-like 1 (EHBP1L1), mRNA.	439										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						ACACTAAGGGACCAGAGGCGA	0.597													-	65349460	A	-	65349460	7	5	123	1	0	1	0	1	0	0	0	0	5015	262	10	0	1351	0	EHBP1L1	11	65349460	Frame_Shift_Del	DEL	A	TCGA-12-5295-01A-01D-1486-08	35315590	65349460	69657056	59	8301											
ODZ4	26011	broad.mit.edu	37	chr11	78380300	78380300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacagcaagaggggtccCgatgttgtcacaagctatgt	13	8	12	8	1	1	2	1	0	0	2	2	3	2	2	1	2	2	3	1	2	4	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:78380300C>T	uc001ozl.4	-	31	7553	c.7090G>A	c.(7090-7092)Ggg>Agg	p.G2364R	ODZ4_uc001ozk.4_Missense_Mutation_p.G589R	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	2364					signal transduction	integral to membrane		p.G2364V(1)		breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						AGAGGGGTCCCGATGTTGTCA	0.483													T	78380300	C	T	78380300	3	4	123	1	0	0	0	0	1	0	0	0	10913	652	23	1	1231	1	ODZ4	11	78380300	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	13030840	78380300	56626216	60	8302											
TMEM135	65084	broad.mit.edu	37	chr11	86778833	86778833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctaactgctaatggggCcttgtatatggctttctttt	7	19	8	7	0	2	0	0	0	2	0	2	0	2	0	1	3	2	3	1	3	4	9			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:86778833C>A	uc001pch.3	+	1	441	c.239C>A	c.(238-240)gCc>gAc	p.A80D	TMEM135_uc010rtt.2_5'UTR|TMEM135_uc001pci.3_Missense_Mutation_p.A80D|TMEM135_uc001pcg.2_Missense_Mutation_p.A80D	NM_022918	NP_075069	Q86UB9	TM135_HUMAN	Homo sapiens transmembrane protein 135 (TMEM135), transcript variant 1, mRNA.	80						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GCTAATGGGGCCTTGTATATG	0.358													A	86778833	C	A	86778833	3	1	123	1	0	0	0	0	1	0	0	0	16151	739	26	4	245	4	TMEM135	11	86778833	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	8398533	86778833	48227683	61	8303											
MTNR1B	4544	broad.mit.edu	37	chr11	92715081	92715081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctggtgcttcaggcccGcaggaaagccaagccagaga	10	5	15	11	1	1	1	1	0	0	1	1	3	1	2	3	4	4	3	3	4	2	1	rs8192553	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr11:92715081G>A	uc001pdk.1	+	1	795	c.692G>A	c.(691-693)cGc>cAc	p.R231H		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	231			R -> H (in dbSNP:rs8192553).		G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CTTCAGGCCCGCAGGAAAGCC	0.582													A	92715081	G	A	92715081	3	1	123	1	0	0	0	0	1	0	0	0	10028	1087	38	1	698	1	MTNR1B	11	92715081	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	5936248	92715081	42291435	62	8304											
ITPR2	3709	broad.mit.edu	37	chr12	26835518	26835518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatttacctttaacataaCaggcctctcttcatctgtgt	10	15	5	11	0	3	0	1	0	2	0	4	1	3	0	2	1	3	0	2	1	3	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:26835518C>T	uc001rhg.3	-	11	1654	c.1237G>A	c.(1237-1239)Gtt>Att	p.V413I		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	413	MIR 5.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TTTAACATAACAGGCCTCTCT	0.388													T	26835518	C	T	26835518	3	4	123	1	0	0	0	0	1	0	0	0	7979	478	17	2	7052	2	ITPR2	12	26835518	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		26835518	107016377	63	8305											
CCNT1	904	broad.mit.edu	37	chr12	49086898	49086898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctgtattgccagatctcGaggagattccaccagaccga	10	10	10	11	2	2	3	0	0	2	3	4	6	3	3	4	1	1	1	4	1	1	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:49086898G>A	uc001rsd.4	-	8	2422	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	CCNT1_uc009zkz.2_Missense_Mutation_p.S415L|CCNT1_uc021qxk.1_5'Flank	NM_001240	NP_001231	O60563	CCNT1_HUMAN	Homo sapiens cyclin T1 (CCNT1), mRNA.	700					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						GCCAGATCTCGAGGAGATTCC	0.507													A	49086898	G	A	49086898	3	1	123	1	0	0	0	0	1	0	0	0	2964	1059	37	1	85	1	CCNT1	12	49086898	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	22251380	49086898	84764997	64	8306											
ITGB7	3695	broad.mit.edu	37	chr12	53585372	53585372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtctgcctcttgaaagcGaggattgatggtggtcgtga	8	12	14	7	2	2	3	0	3	2	0	3	5	2	4	1	3	2	0	1	3	1	2	rs141610554	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:53585372G>A	uc009zmv.3	-	14	2436	c.2365C>T	c.(2365-2367)Cgc>Tgc	p.R789C	ITGB7_uc001scc.3_Missense_Mutation_p.R789C|ITGB7_uc010snz.2_Non-coding_Transcript	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	789					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTGAAAGCGAGGATTGATG	0.507													A	53585372	G	A	53585372	3	1	123	1	0	0	0	0	1	0	0	0	7958	1058	37	1	35	1	ITGB7	12	53585372	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	4498474	53585372	80266523	65	8307											
LEMD3	23592	broad.mit.edu	37	chr12	65633734	65633734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggtttgtgtcgttctGcgttacatgaaatatcgatg	8	16	12	5	3	1	2	0	2	1	0	3	3	1	2	0	1	2	3	0	1	3	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:65633734G>A	uc001ssl.2	+	6	1973	c.1947G>A	c.(1945-1947)ctG>ctA	p.L649L	LEMD3_uc009zqo.2_Silent_p.L648L	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	649					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GTGTCGTTCTGCGTTACATGA	0.294													A	65633734	G	A	65633734	2	1	123	1	0	0	0	0	0	0	0	1	8780	1306	46	2		2	LEMD3	12	65633734	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	12048362	65633734	68218161	66	8308											
CCT2	10576	broad.mit.edu	37	chr12	69985894	69985894	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaacgaattgaaaatgcTaaaattcttattgcaaatac	19	11	4	7	1	1	1	0	1	1	0	1	2	1	1	1	0	4	2	1	0	10	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:69985894T>G	uc001svb.1	+	7	799	c.705T>G	c.(703-705)gcT>gcG	p.A235A	CCT2_uc010stl.1_Silent_p.A188A	NM_006431	NP_001185771	P78371	TCPB_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 2 (beta) (CCT2), transcript variant 1, mRNA.	235					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGAAAATGCTAAAATTCTTA	0.294													G	69985894	T	G	69985894	2	3	123	1	0	0	0	0	0	0	0	1	2983	1509	53	5		5	CCT2	12	69985894	Silent	SNP	T	TCGA-12-5295-01A-01D-1486-08	4352160	69985894	63866001	67	8309											
SCARB1	949	broad.mit.edu	37	chr12	125294730	125294730	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgattaccggcaggcctCcgggctgtagaactccagcg	8	7	13	13	3	0	2	0	1	0	1	2	2	2	2	4	3	3	3	4	3	3	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr12:125294730C>A	uc001ugp.3	-	5	1085	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SCARB1_uc001ugm.4_Nonsense_Mutation_p.E278*|SCARB1_uc001ugn.4_Nonsense_Mutation_p.E278*|SCARB1_uc010tbd.2_Nonsense_Mutation_p.E278*|SCARB1_uc001ugo.4_Nonsense_Mutation_p.E278*	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	278					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CGGCAGGCCTCCGGGCTGTAG	0.552													A	125294730	C	A	125294730	4	1	123	1	0	0	0	0	0	1	0	0	13973	864	30	4	849	4	SCARB1	12	125294730	Nonsense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	55308836	125294730	8557165	68	8310											
MYO16	23026	broad.mit.edu	37	chr13	109792874	109792874	+	Frame_Shift_Del	DEL	G	G	-																															cctgtgtacatcgagatgctGgggcacgcggccaggcccga																										TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr13:109792874delG	uc010agk.2	+	31	4936	c.4314delG	c.(4312-4314)ctgfs	p.L1438fs	MYO16_uc001vqt.1_Frame_Shift_Del_p.L1416fs	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1416	Pro-rich.				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TCGAGATGCTGGGGCACGCGG	0.736													-	109792874	G	-	109792874	7	5	123	1	0	1	0	1	0	0	0	0	10140	1335	47	0	4370	0	MYO16	13	109792874	Frame_Shift_Del	DEL	G	TCGA-12-5295-01A-01D-1486-08		109792874	5377004	69	8311											
OR4K13	390433	broad.mit.edu	37	chr14	20502107	20502107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattgtgtaaaacacagaaaGaattttatctaccgagtatc	17	12	6	6	1	1	2	0	0	1	2	2	3	1	2	1	0	2	2	1	0	8	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:20502107G>A	uc010tkz.2	-	0	811	c.811C>T	c.(811-813)Ctt>Ttt	p.L271F		NM_001004714	NP_001004714	Q8NH42	OR4KD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 13 (OR4K13), mRNA.	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		AACACAGAAAGAATTTTATCT	0.378													A	20502107	G	A	20502107	3	1	123	1	0	0	0	0	1	0	0	0	11144	942	33	2	105	2	OR4K13	14	20502107	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		20502107	86847433	70	8312											
C14orf43	91748	broad.mit.edu	37	chr14	74203800	74203800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttcaggacccttcccGtcctcatcaagacctccagc	7	11	6	17	1	4	1	3	0	1	1	7	2	7	2	5	1	1	1	5	1	1	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:74203800G>A	uc010tud.1	-	1	1897	c.1650C>T	c.(1648-1650)gaC>gaT	p.D550D	C14orf43_uc001xot.3_Silent_p.D550D|C14orf43_uc001xou.3_Silent_p.D550D|C14orf43_uc010arw.2_Non-coding_Transcript	NM_194278	NP_919254	Q6PJG2	CN043_HUMAN	Homo sapiens chromosome 14 open reading frame 43 (C14orf43), transcript variant 1, mRNA.	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(4)	37				BRCA - Breast invasive adenocarcinoma(234;0.00358)|KIRC - Kidney renal clear cell carcinoma(182;0.0878)|OV - Ovarian serous cystadenocarcinoma(108;0.115)		GACCCTTCCCGTCCTCATCAA	0.602													A	74203800	G	A	74203800	2	1	123	1	0	0	0	0	0	0	0	1	1787	1136	40	1		1	C14orf43	14	74203800	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	53701693	74203800	33145740	71	8313											
NUDT14	256281	broad.mit.edu	37	chr14	105642875	105642875	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctggtcccactcaccagtAtgtggcgacccggcgcagat	7	7	12	15	3	1	1	1	0	0	1	2	2	2	1	4	3	0	2	4	3	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr14:105642875A>T	uc010tyn.2	-	3	538	c.424T>A	c.(424-426)Tac>Aac	p.Y142N	NUDT14_uc001yqi.3_Non-coding_Transcript	NM_177533	NP_803877	O95848	NUD14_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 14 (NUDT14), mRNA.	142	Nudix hydrolase.					cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		ACTCACCAGTATGTGGCGACC	0.642										HNSCC(42;0.11)			T	105642875	A	T	105642875	3	4	123	1	0	0	0	0	1	0	0	0	10806	449	16	5	252	5	NUDT14	14	105642875	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08	31439075	105642875	1706665	72	8314											
TJP1	7082	broad.mit.edu	37	chr15	30000963	30000963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcacttggcagaagattGtgattgaatttaggactttc	10	16	10	5	0	1	4	1	2	0	2	2	5	1	5	0	2	0	2	0	2	3	7			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:30000963G>A	uc001zcr.3	-	24	5125	c.4650C>T	c.(4648-4650)caC>caT	p.H1550H	TJP1_uc010azl.3_Silent_p.H1538H|TJP1_uc001zcq.3_Silent_p.H1474H|TJP1_uc001zcs.3_Silent_p.H1470H	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	1550					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCAGAAGATTGTGATTGAATT	0.413													A	30000963	G	A	30000963	2	1	123	1	0	0	0	0	0	0	0	1	16029	1368	48	2		2	TJP1	15	30000963	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08		30000963	72530429	73	8315											
BAHD1	22893	broad.mit.edu	37	chr15	40750817	40750817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcacctcacagggcgcCgcaagaattacccacttcgt	10	7	9	15	3	2	1	2	0	0	1	3	1	2	1	3	2	1	1	3	2	3	2	rs144910683		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:40750817C>T	uc001zlu.2	+	1	225	c.154C>T	c.(154-156)Cgc>Tgc	p.R52C	BAHD1_uc001zlt.2_Missense_Mutation_p.R52C|BAHD1_uc010bbp.1_Missense_Mutation_p.R52C|BAHD1_uc001zlv.2_Missense_Mutation_p.R52C	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	52					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CACAGGGCGCCGCAAGAATTA	0.632													T	40750817	C	T	40750817	3	4	123	1	0	0	0	0	1	0	0	0	1302	652	23	1	156	1	BAHD1	15	40750817	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	10749854	40750817	61780575	74	8316											
SLCO3A1	28232	broad.mit.edu	37	chr15	92690225	92690225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttcagaatctcacgggCtgtgcgtgcctcaccaccgt	6	10	9	16	3	3	1	3	0	1	1	4	1	3	1	4	1	2	1	4	1	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr15:92690225C>T	uc002bqx.2	+	7	1725	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	SLCO3A1_uc002bqy.2_Silent_p.G508G|SLCO3A1_uc010boc.1_Non-coding_Transcript|SLCO3A1_uc002bqz.1_Silent_p.G450G	NM_013272	NP_037404	Q9UIG8	SO3A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 3A1 (SLCO3A1), transcript variant 1, mRNA.	508	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			ATCTCACGGGCTGTGCGTGCC	0.557													T	92690225	C	T	92690225	2	4	123	1	0	0	0	0	0	0	0	1	14822	784	28	2		2	SLCO3A1	15	92690225	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	51939408	92690225	9841167	75	8317											
SSTR5	6755	broad.mit.edu	37	chr16	1129429	1129429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagggcggtacctgcaaCgccagctggccggagcccgt	7	4	16	14	4	0	0	0	0	0	0	0	2	0	2	4	5	5	3	4	5	2	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr16:1129429C>T	uc021taf.1	+	1	632	c.561C>T	c.(559-561)aaC>aaT	p.N187N	LOC146336_uc002cko.3_5'Flank|LOC146336_uc002ckp.1_5'Flank|SSTR5_uc002ckq.3_Silent_p.N187N	NM_001172560	NP_001166031	P35346	SSR5_HUMAN	Homo sapiens somatostatin receptor 5 (SSTR5), transcript variant 2, mRNA.	187					negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			endometrium(2)|lung(5)|prostate(1)|skin(1)	9		Hepatocellular(780;0.00369)			Octreotide(DB00104)	GTACCTGCAACGCCAGCTGGC	0.692													T	1129429	C	T	1129429	2	4	123	1	0	0	0	0	0	0	0	1	15297	535	19	1		1	SSTR5	16	1129429	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08		1129429	89225324	76	8318											
MYH8	4626	broad.mit.edu	37	chr17	10295897	10295897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcgtcgctcatgtttccGtaaacctttaacagcctctg	8	14	6	13	3	2	0	1	0	1	0	5	0	3	0	3	0	4	3	3	0	4	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:10295897G>A	uc002gmm.2	-	37	5625	c.5530C>T	c.(5530-5532)Cgg>Tgg	p.R1844W	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1844					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCATGTTTCCGTAAACCTTTA	0.433									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10295897	G	A	10295897	3	1	123	1	0	0	0	0	1	0	0	0	10117	1144	40	1	295	1	MYH8	17	10295897	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08		10295897	70899313	77	8319											
STAT3	6774	broad.mit.edu	37	chr17	40474479	40474479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttcagctgctgctttGtgtatggttccacggactgg	4	16	13	8	1	1	0	1	0	0	0	2	1	2	1	1	3	3	7	1	3	1	5			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr17:40474479G>A	uc002hzl.1	-	20	2162	c.1922C>T	c.(1921-1923)aCa>aTa	p.T641I	STAT3_uc002hzk.1_Missense_Mutation_p.T641I|STAT3_uc002hzm.1_Missense_Mutation_p.T641I|STAT3_uc010wgh.1_Missense_Mutation_p.T543I|STAT3_uc002hzn.1_Missense_Mutation_p.T641I	NM_139276	NP_644805	P40763	STAT3_HUMAN	Homo sapiens signal transducer and activator of transcription 3 (acute-phase response factor) (STAT3), transcript variant 1, mRNA.	641	SH2.				cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CTGCTGCTTTGTGTATGGTTC	0.463									Hyperimmunoglobulin E Recurrent Infection Syndrome				A	40474479	G	A	40474479	3	1	123	1	0	0	0	0	1	0	0	0	15362	1377	48	2	406	2	STAT3	17	40474479	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	30178582	40474479	40720731	78	8320											
LRRC30	339291	broad.mit.edu	37	chr18	7231759	7231759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagagcatccagcaccTggccagcctgcagatcttca	9	7	10	15	1	2	2	1	1	1	2	3	3	3	2	4	1	4	4	4	1	0	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:7231759T>C	uc010wzk.2	+	0	623	c.623T>C	c.(622-624)cTg>cCg	p.L208P		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	208										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						ATCCAGCACCTGGCCAGCCTG	0.562													C	7231759	T	C	7231759	3	2	123	1	0	0	0	0	1	0	0	0	9055	1580	55	3	625	3	LRRC30	18	7231759	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08		7231759	70845489	79	8321											
DCC	1630	broad.mit.edu	37	chr18	50278484	50278484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccttctgatgccgtcaCaatgcggggaggaaatgtcc	11	8	12	10	2	2	2	1	1	1	1	3	4	3	4	3	3	3	0	3	3	3	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr18:50278484C>T	uc002lfe.2	+	1	768	c.152C>T	c.(151-153)aCa>aTa	p.T51I	DCC_uc010xdr.1_5'UTR	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	51	Ig-like C2-type 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		GATGCCGTCACAATGCGGGGA	0.498													T	50278484	C	T	50278484	3	4	123	1	0	0	0	0	1	0	0	0	4316	478	17	2	158	2	DCC	18	50278484	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	43046725	50278484	27798764	80	8322											
MUC16	94025	broad.mit.edu	37	chr19	9006685	9006685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgttgaacttcctggagCcagggtgacccatgttctcc	7	12	11	11	0	1	3	0	3	1	0	3	4	2	4	4	2	2	2	4	2	1	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:9006685C>T	uc002mkp.3	-	43	39767	c.39563G>A	c.(39562-39564)gGc>gAc	p.G13188D	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.G5D|MUC16_uc021uog.1_Intron	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13190	SEA 8.				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						CTTCCTGGAGCCAGGGTGACC	0.527													T	9006685	C	T	9006685	3	4	123	1	0	0	0	0	1	0	0	0	10049	739	26	2	4124	2	MUC16	19	9006685	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		9006685	50122298	81	8323											
CYP2A13	1553	broad.mit.edu	37	chr19	41600897	41600897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctatgctgggctccgtgCtgagagaccccaggttcttc	5	11	11	14	1	1	2	0	1	1	1	4	3	3	2	4	2	2	4	4	2	1	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:41600897C>T	uc002opt.3	+	7	1204	c.1195C>T	c.(1195-1197)Ctg>Ttg	p.L399L		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	399					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GGGCTCCGTGCTGAGAGACCC	0.557													T	41600897	C	T	41600897	2	4	123	1	0	0	0	0	0	0	0	1	4194	796	28	2		2	CYP2A13	19	41600897	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	32594212	41600897	17528086	82	8324											
PSG8	440533	broad.mit.edu	37	chr19	43258694	43258694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagaggacttctcctgaaCggtaataggtgaatgaaggg	13	9	14	5	1	1	4	0	3	1	1	2	5	1	5	1	4	1	2	1	4	6	4	rs148019273	byFrequency	TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:43258694C>T	uc002ouo.2	-	4	1132	c.1034G>A	c.(1033-1035)cGt>cAt	p.R345H	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Non-coding_Transcript|PSG8_uc002ouh.3_Missense_Mutation_p.R345H|PSG8_uc010ein.3_Missense_Mutation_p.R223H|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	345	Ig-like C2-type 3.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCTCCTGAACGGTAATAGGT	0.473													T	43258694	C	T	43258694	3	4	123	1	0	0	0	0	1	0	0	0	12746	536	19	1	271	1	PSG8	19	43258694	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	1657797	43258694	15870289	83	8325											
CEACAM16	388551	broad.mit.edu	37	chr19	45208902	45208902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccaggattccaccacccGcacaggctgcaccatcaaag	11	5	7	18	1	1	0	1	0	0	0	3	1	3	1	6	2	1	3	6	2	1	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:45208902G>T	uc010xxd.2	+	4	910	c.704G>T	c.(703-705)cGc>cTc	p.R235L		NM_001039213	NP_001034302	A7LI12	A7LI12_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 16 (CEACAM16), mRNA.	235										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				TCCACCACCCGCACAGGCTGC	0.612													T	45208902	G	T	45208902	3	4	123	1	0	0	0	0	1	0	0	0	3218	1087	38	4	718	4	CEACAM16	19	45208902	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	1950208	45208902	13920081	84	8326											
TEAD2	8463	broad.mit.edu	37	chr19	49862740	49862740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagcttgatgtagcgggcGatcagttcattccgacctga	8	11	11	11	3	3	2	3	2	0	0	4	4	4	2	2	1	2	3	2	1	1	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr19:49862740G>A	uc002pnh.3	-	2	355	c.249C>T	c.(247-249)atC>atT	p.I83I	TEAD2_uc002png.3_Silent_p.I83I|TEAD2_uc002pni.3_Silent_p.I83I|TEAD2_uc002pnj.3_Silent_p.I83I|TEAD2_uc010yao.2_5'UTR|TEAD2_uc010emw.3_Silent_p.I83I	NM_003598	NP_003589	Q15562	TEAD2_HUMAN	Homo sapiens TEA domain family member 2 (TEAD2), mRNA.	83					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TGTAGCGGGCGATCAGTTCAT	0.512													A	49862740	G	A	49862740	2	1	123	1	0	0	0	0	0	0	0	1	15839	1048	37	1		1	TEAD2	19	49862740	Silent	SNP	G	TCGA-12-5295-01A-01D-1486-08	4653838	49862740	9266243	85	8327											
BMP2	650	broad.mit.edu	37	chr20	6758901	6758901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaattagaatctttggAagaactaccagaaacgagtg	17	10	8	6	1	2	3	1	0	1	3	2	5	2	4	1	1	3	0	1	1	8	4			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:6758901A>T	uc002wmu.1	+	2	1141	c.356A>T	c.(355-357)gAa>gTa	p.E119V		NM_001200	NP_001191	P12643	BMP2_HUMAN	Homo sapiens bone morphogenetic protein 2 (BMP2), mRNA.	119					BMP signaling pathway involved in heart induction|bone mineralization involved in bone maturation|cardiac cell differentiation|cardiac epithelial to mesenchymal transition|cartilage development|growth|negative regulation of cell cycle|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|pathway-restricted SMAD protein phosphorylation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cartilage development|positive regulation of endothelial cell proliferation|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of phosphatase activity|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	activin receptor activity, type II|BMP receptor binding|cytokine activity|growth factor activity|phosphatase activator activity|protein heterodimerization activity|SMAD binding|transforming growth factor beta receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	13					Simvastatin(DB00641)	GAATCTTTGGAAGAACTACCA	0.363													T	6758901	A	T	6758901	3	4	123	1	0	0	0	0	1	0	0	0	1465	246	9	5	362	5	BMP2	20	6758901	Missense_Mutation	SNP	A	TCGA-12-5295-01A-01D-1486-08		6758901	56266619	86	8328											
PLK1S1	55857	broad.mit.edu	37	chr20	21143040	21143040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacgggaacatattgaagttGaggaaaaaagagccagcccg	16	5	12	8	2	0	3	0	2	0	1	0	5	0	5	2	2	3	1	2	2	6	3			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chr20:21143040G>A	uc002wsb.3	+	4	1067	c.934G>A	c.(934-936)Gag>Aag	p.E312K	PLK1S1_uc010zsh.2_Missense_Mutation_p.E209K|PLK1S1_uc010zsi.2_Missense_Mutation_p.E179K|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	312					spindle organization	centrosome	protein kinase binding										TATTGAAGTTGAGGAAAAAAG	0.448													A	21143040	G	A	21143040	3	1	123	1	0	0	0	0	1	0	0	0	12172	1291	45	2	952	2	PLK1S1	20	21143040	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	14384139	21143040	41882480	87	8329											
FOXR2	139628	broad.mit.edu	37	chrX	55650313	55650313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcggagtaatgaagcccCcagaaatgcctcagaagagg	14	5	13	9	1	1	4	1	1	0	3	2	6	1	5	3	2	2	1	3	2	4	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:55650313C>T	uc004duo.3	+	0	481	c.169C>T	c.(169-171)Cca>Tca	p.P57S		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	57					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AATGAAGCCCCCAGAAATGCC	0.517													T	55650313	C	T	55650313	3	4	123	1	0	0	0	0	1	0	0	0	6083	623	22	2	171	2	FOXR2	23	55650313	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08		55650313	99620247	88	8330											
YIPF6	286451	broad.mit.edu	37	chrX	67742720	67742720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaacttcatggttcggCtttttgtggtgattgtgatg	6	18	12	5	1	1	2	1	2	0	0	2	2	1	2	0	3	1	3	0	3	2	6			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:67742720C>A	uc004dwz.3	+	5	838	c.553C>A	c.(553-555)Ctt>Att	p.L185I	YIPF6_uc011mph.2_Missense_Mutation_p.L142I	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	185						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CATGGTTCGGCTTTTTGTGGT	0.408													A	67742720	C	A	67742720	3	1	123	1	0	0	0	0	1	0	0	0	17584	797	28	4	575	4	YIPF6	23	67742720	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	12092407	67742720	87527840	89	8331											
FAM199X	139231	broad.mit.edu	37	chrX	103434406	103434406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaacgaagaggtgctgTccttgaaagtgactgaggaa	12	10	12	7	1	0	4	0	3	0	1	2	6	2	5	2	2	2	1	2	2	4	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:103434406T>C	uc004elw.3	+	5	1425	c.1114T>C	c.(1114-1116)Tcc>Ccc	p.S372P	FAM199X_uc004elx.3_Missense_Mutation_p.S146P	NM_207318	NP_997201	Q6PEV8	F199X_HUMAN	Homo sapiens family with sequence similarity 199, X-linked (FAM199X), mRNA.	372										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						AGAGGTGCTGTCCTTGAAAGT	0.473													C	103434406	T	C	103434406	3	2	123	1	0	0	0	0	1	0	0	0	5577	1667	58	3	1136	3	FAM199X	23	103434406	Missense_Mutation	SNP	T	TCGA-12-5295-01A-01D-1486-08	35691686	103434406	51836154	90	8332											
COL4A5	1287	broad.mit.edu	37	chrX	107911614	107911614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttccaggtccaaagggcGaaccaggctttcacggtttc	8	9	11	13	2	1	0	1	0	0	0	4	1	3	0	4	4	1	2	4	4	2	3	rs104886391		TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:107911614G>A	uc022ccg.1	+	40	3872	c.3670G>A	c.(3670-3672)Gaa>Aaa	p.E1224K	COL4A5_uc004enz.1_Missense_Mutation_p.E1224K	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1224	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TCCAAAGGGCGAACCAGGCTT	0.532									Alport syndrome with Diffuse Leiomyomatosis				A	107911614	G	A	107911614	3	1	123	1	0	0	0	0	1	0	0	0	3725	1059	37	1	3832	1	COL4A5	23	107911614	Missense_Mutation	SNP	G	TCGA-12-5295-01A-01D-1486-08	4477208	107911614	47358946	91	8333											
ZNF275	10838	broad.mit.edu	37	chrX	152613030	152613030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaagccatacgggtgtcCccactgcggcaagctcttcc	7	7	11	16	2	1	0	0	0	1	0	3	0	3	0	5	3	4	2	5	3	3	2			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:152613030C>T	uc011myn.2	+	1	1600	c.698C>T	c.(697-699)cCc>cTc	p.P233L	ZNF275_uc004fhg.2_Missense_Mutation_p.P296L|ZNF275_uc022cht.1_Missense_Mutation_p.P233L|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.	296						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACGGGTGTCCCCACTGCGGC	0.682													T	152613030	C	T	152613030	3	4	123	1	0	0	0	0	1	0	0	0	17911	623	22	2	897	2	ZNF275	23	152613030	Missense_Mutation	SNP	C	TCGA-12-5295-01A-01D-1486-08	44701416	152613030	2657530	92	8334											
SLC10A3	8273	broad.mit.edu	37	chrX	153716308	153716308	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgaacagcagggtcccCaggatcttggagatgggcac	11	6	14	10	0	1	2	0	1	1	1	2	4	2	3	2	4	2	3	2	4	2	1			TCGA-12-5295-01A-01D-1486-08	TCGA-12-5295-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f5741-3b2d-46e5-b74f-e5a76604a401	acb44b8b-11f0-4e02-bc40-f96205ac66f9	g.chrX:153716308C>A	uc022cig.1	-	0	972	c.972G>T	c.(970-972)ctG>ctT	p.L324L	UBL4A_uc004flo.3_5'Flank|SLC10A3_uc004flr.3_Silent_p.L295L|SLC10A3_uc004flq.3_Silent_p.L324L|SLC10A3_uc004flp.3_Silent_p.L324L	NM_019848	NP_062822	P09131	P3_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 3 (SLC10A3), transcript variant 1, mRNA.	324					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCAGGGTCCCCAGGATCTTGG	0.607													A	153716308	C	A	153716308	2	1	123	1	0	0	0	0	0	0	0	1	14469	581	21	4		4	SLC10A3	23	153716308	Silent	SNP	C	TCGA-12-5295-01A-01D-1486-08	1103278	153716308	1554252	93	8335											
FAM131C	348487	broad.mit.edu	37	chr1	16390042	16390042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacacagtctggagccaCggtgggagtgcggcccgagg	9	5	17	10	3	1	1	0	1	1	0	1	4	1	3	2	5	2	0	2	5	1	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:16390042C>T	uc001axz.4	-	1	302	c.112G>A	c.(112-114)Gtg>Atg	p.V38M		NM_182623	NP_872429	Q96AQ9	F131C_HUMAN	Homo sapiens family with sequence similarity 131, member C (FAM131C), mRNA.	38										large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.32e-08)|COAD - Colon adenocarcinoma(227;5.56e-06)|BRCA - Breast invasive adenocarcinoma(304;9.12e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGAGCCACGGTGGGAGTG	0.632													T	16390042	C	T	16390042	3	4	124	1	0	0	0	0	1	0	0	0	5486	536	19	1	754	1	FAM131C	1	16390042	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		16390042	232860579	1	8336											
RCAN3	11123	broad.mit.edu	37	chr1	24857822	24857822	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcggcagcaagagcgCgaatagaactccacgaaaca	16	3	11	11	4	0	3	0	1	0	2	1	5	1	3	1	1	5	2	1	1	6	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:24857822C>T	uc021ojc.1	+	2	482	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RCAN3_uc021ojd.1_5'UTR|RCAN3_uc021oje.1_Nonsense_Mutation_p.R104*|RCAN3_uc001bjj.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vre.3_Intron|RCAN3_uc021ojf.1_5'UTR|RCAN3_uc021ojg.1_Nonsense_Mutation_p.R104*|RCAN3_uc009vrg.3_Intron|RCAN3_uc009vrd.3_Nonsense_Mutation_p.R104*|RCAN3_uc009vrf.3_Nonsense_Mutation_p.R104*	NM_001251979	NP_001238908	Q9UKA8	RCAN3_HUMAN	Homo sapiens RCAN family member 3 (RCAN3), transcript variant 4, mRNA.	104					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		AGCAAGAGCGCGAATAGAACT	0.413													T	24857822	C	T	24857822	4	4	124	1	0	0	0	0	0	1	0	0	13258	760	27	1	316	1	RCAN3	1	24857822	Nonsense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	8467780	24857822	224392799	2	8337											
GRIK3	2899	broad.mit.edu	37	chr1	37285426	37285426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagccagggttgcaggggTgagcatcgtaccactcataa	10	7	14	10	2	1	1	1	1	0	0	2	2	1	2	2	4	4	4	2	4	2	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:37285426T>C	uc001caz.2	-	11	1919	c.1784A>G	c.(1783-1785)cAc>cGc	p.H595R	GRIK3_uc001cba.1_Missense_Mutation_p.H595R	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	595					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTTGCAGGGGTGAGCATCGTA	0.562													C	37285426	T	C	37285426	3	2	124	1	0	0	0	0	1	0	0	0	6830	1696	59	3	995	3	GRIK3	1	37285426	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08	12427604	37285426	211965195	3	8338											
SLC44A5	204962	broad.mit.edu	37	chr1	75679448	75679448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgtgcaatcactggcagtCtttgtgtgaagaataggaag	11	12	12	6	0	2	2	1	1	1	1	2	3	2	3	0	2	1	2	0	2	5	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:75679448C>G	uc010oqz.1	-	20	2087	c.2021G>C	c.(2020-2022)aGa>aCa	p.R674T	SLC44A5_uc001dgt.2_Missense_Mutation_p.R635T|SLC44A5_uc001dgs.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgr.2_Missense_Mutation_p.R593T|SLC44A5_uc001dgu.3_Missense_Mutation_p.R635T|SLC44A5_uc010ora.2_Missense_Mutation_p.R629T|SLC44A5_uc010orb.2_Missense_Mutation_p.R505T	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	635						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CACTGGCAGTCTTTGTGTGAA	0.378													G	75679448	C	G	75679448	3	3	124	1	0	0	0	0	1	0	0	0	14733	913	32	4	378	4	SLC44A5	1	75679448	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	38394022	75679448	173571173	4	8339											
HRNR	388697	broad.mit.edu	37	chr1	152187697	152187697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtcctgatctagagccGtgttgtccgtagccagagga	8	10	13	10	2	1	3	0	1	1	2	3	5	3	4	4	1	2	2	4	1	2	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:152187697G>A	uc001ezt.1	-	2	6484	c.6408C>T	c.(6406-6408)caC>caT	p.H2136H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2136					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTAGAGCCGTGTTGTCCGT	0.557													A	152187697	G	A	152187697	2	1	124	1	0	0	0	0	0	0	0	1	7414	1136	40	1		1	HRNR	1	152187697	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	76508249	152187697	97062924	5	8340											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	11	11	8	1	0	3	0	1	0	2	1	4	1	4	3	2	2	3	3	2	5	4			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:204170871C>T	uc001has.1	-	2	372	c.186G>A	c.(184-186)cgG>cgA	p.R62R	GOLT1A_uc001hat.1_Silent_p.R62R	NM_198447	NP_940849	Q6ZVE7	GOT1A_HUMAN	Homo sapiens golgi transport 1A (GOLT1A), mRNA.	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(2)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567													T	204170871	C	T	204170871	2	4	124	1	0	0	0	0	0	0	0	1	6623	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	51983174	204170871	45079750	6	8341											
NID1	4811	broad.mit.edu	37	chr1	236189279	236189279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacgaacacgctgtccaccGagagctgctgggtgctgggc	7	6	16	12	3	0	1	0	0	0	1	1	4	1	2	2	3	4	4	2	3	1	0	rs147220938		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr1:236189279G>A	uc001hxo.3	-	7	2003	c.1901C>T	c.(1900-1902)tCg>tTg	p.S634L	NID1_uc009xgd.3_Missense_Mutation_p.S634L	NM_002508	NP_002499	P14543	NID1_HUMAN	Homo sapiens nidogen 1 (NID1), mRNA.	634	Nidogen G2 beta-barrel.				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCTGTCCACCGAGAGCTGCTG	0.592													A	236189279	G	A	236189279	3	1	124	1	0	0	0	0	1	0	0	0	10490	1059	37	1	1894	1	NID1	1	236189279	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	32018408	236189279	13061342	7	8342											
ZNF513	130557	broad.mit.edu	37	chr2	27600813	27600813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttctctcctgtatggaCgcgctggtgccgtttcaggt	3	13	14	11	3	2	0	1	0	1	0	4	1	3	1	2	4	1	4	2	4	1	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:27600813C>T	uc002rkk.3	-	3	1443	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	ZNF513_uc002rkj.3_Missense_Mutation_p.V347I	NM_144631	NP_001188388	Q8N8E2	ZN513_HUMAN	Homo sapiens zinc finger protein 513 (ZNF513), transcript variant 1, mRNA.	409					regulation of transcription, DNA-dependent|response to stimulus|retina development in camera-type eye|transcription, DNA-dependent|visual perception	nucleus	transcription regulatory region DNA binding|zinc ion binding	p.R408H(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	17	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGTATGGACGCGCTGGTGC	0.587													T	27600813	C	T	27600813	3	4	124	1	0	0	0	0	1	0	0	0	18059	536	19	1	404	1	ZNF513	2	27600813	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		27600813	215598560	8	8343											
IL1R1	3554	broad.mit.edu	37	chr2	102791960	102791960	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatggaaagacctatgaCgcatatatactgtatccaaa	16	10	7	8	1	1	3	1	1	0	2	2	4	2	4	2	1	1	2	2	1	7	5	rs113665542	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:102791960C>T	uc002tbq.3	+	10	1476	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	IL1R1_uc010fix.3_Intron|IL1R1_uc002tbr.3_Silent_p.D386D	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	386	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	AGACCTATGACGCATATATAC	0.363													T	102791960	C	T	102791960	2	4	124	1	0	0	0	0	0	0	0	1	7716	535	19	1		1	IL1R1	2	102791960	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	75191147	102791960	140407413	9	8344											
ANKAR	150709	broad.mit.edu	37	chr2	190603404	190603404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagacttctactattgtcttGacaggtaagaaatgactaga	14	12	8	7	0	2	5	0	2	2	3	2	5	2	5	0	1	1	1	0	1	5	7			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr2:190603404G>A	uc002uqw.2	+	18	3784	c.3696G>A	c.(3694-3696)ttG>ttA	p.L1232L	ANKAR_uc002uqu.3_Non-coding_Transcript|ANKAR_uc002uqx.2_Non-coding_Transcript|ANKAR_uc002uqy.2_Silent_p.L328L	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	1232						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			CTATTGTCTTGACAGGTAAGA	0.294													A	190603404	G	A	190603404	2	1	124	1	0	0	0	0	0	0	0	1	623	1281	45	2		2	ANKAR	2	190603404	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	87811444	190603404	52595969	10	8345											
ITPR1	3708	broad.mit.edu	37	chr3	4669476	4669476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagctatgtcccatgaacCgctactctgcccaaaagcag	12	9	7	13	1	1	1	0	1	1	0	2	1	2	1	3	0	5	3	3	0	6	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:4669476C>T	uc003bqc.3	+	4	543	c.193C>T	c.(193-195)Cgc>Tgc	p.R65C	ITPR1_uc010hbz.3_Missense_Mutation_p.R65C|ITPR1_uc021wsi.1_Missense_Mutation_p.R65C|ITPR1_uc021wsj.1_Missense_Mutation_p.R65C|ITPR1_uc011asu.2_Missense_Mutation_p.R65C	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	65					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCCCATGAACCGCTACTCTGC	0.468													T	4669476	C	T	4669476	3	4	124	1	0	0	0	0	1	0	0	0	7978	652	23	1	203	1	ITPR1	3	4669476	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		4669476	193352954	11	8346											
CHST2	9435	broad.mit.edu	37	chr3	142840212	142840212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcttcggcgagctattcaAccagaatcccgaggtgttct	8	12	10	11	3	3	1	1	0	2	1	5	3	4	1	2	2	2	3	2	2	3	5			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr3:142840212A>G	uc003evm.3	+	1	1493	c.554A>G	c.(553-555)aAc>aGc	p.N185S	CHST2_uc021xex.1_Missense_Mutation_p.N185S	NM_004267	NP_004258	Q9Y4C5	CHST2_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine-6-O) sulfotransferase 2 (CHST2), mRNA.	185					inflammatory response|multicellular organismal development|N-acetylglucosamine metabolic process|sulfur compound metabolic process	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(2)	22						GAGCTATTCAACCAGAATCCC	0.622													G	142840212	A	G	142840212	3	3	124	1	0	0	0	0	1	0	0	0	3434	43	2	3	556	3	CHST2	3	142840212	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08	138170736	142840212	55182218	12	8347											
SH3RF1	57630	broad.mit.edu	37	chr4	170190261	170190261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgatccccagcaaacatcGcttgcaaaacgtatgctggc	12	8	8	13	3	0	0	0	0	0	0	2	1	1	0	2	1	6	5	2	1	5	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr4:170190261G>C	uc003isa.1	-	1	438	c.103C>G	c.(103-105)Cga>Gga	p.R35G		NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	35						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		AGCAAACATCGCTTGCAAAAC	0.517													C	170190261	G	C	170190261	3	2	124	1	0	0	0	0	1	0	0	0	14352	1095	38	4	2607	4	SH3RF1	4	170190261	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		170190261	20964015	13	8348											
PCDHAC2	56145	broad.mit.edu	37	chr5	140181796	140181796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcactgcacagttctactCgaaattgtggacatcaatga	13	11	8	9	1	3	1	2	1	1	0	4	4	3	2	0	1	2	2	0	1	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140181796C>T	uc003lhf.2	+	0	1014	c.1014C>T	c.(1012-1014)ctC>ctT	p.L338L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.L338L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	353	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGTTCTACTCGAAATTGTGG	0.398													T	140181796	C	T	140181796	2	4	124	1	0	0	0	0	0	0	0	1	11609	871	31	1		1	PCDHAC2	5	140181796	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08		140181796	40733464	14	8349											
PCDHGC5	56103	broad.mit.edu	37	chr5	140741377	140741377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgacctcaatgacaatGcgccacgggtgctgtacccc	8	7	12	14	3	1	1	1	1	0	0	1	2	1	1	4	2	3	2	4	2	3	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:140741377G>A	uc003ljs.2	+	0	1675	c.1675G>A	c.(1675-1677)Gcg>Acg	p.A559T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.A559T|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	561	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGACAATGCGCCACGGGT	0.692													A	140741377	G	A	140741377	3	1	124	1	0	0	0	0	1	0	0	0	11647	1319	46	2		2	PCDHGC5	5	140741377	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	559581	140741377	40173883	15	8350											
EIF4E1B	253314	broad.mit.edu	37	chr5	176070180	176070180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggagaaaagtctccaaactCtcccaggactttgctgtctc	11	10	8	12	0	3	1	0	0	3	1	6	3	3	2	2	2	2	1	2	2	3	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr5:176070180C>G	uc010jkf.1	+	3	697	c.113C>G	c.(112-114)tCt>tGt	p.S38C		NM_001099408	NP_001092878	A6NMX2	I4E1B_HUMAN	Homo sapiens eukaryotic translation initiation factor 4E family member 1B (EIF4E1B), mRNA.	38					regulation of translation	cytoplasm|mRNA cap binding complex	translation initiation factor activity			breast(1)|large_intestine(1)|lung(2)|pancreas(1)	5	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCCAAACTCTCCCAGGACT	0.612													G	176070180	C	G	176070180	3	3	124	1	0	0	0	0	1	0	0	0	5070	913	32	4	119	4	EIF4E1B	5	176070180	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	35328803	176070180	4845080	16	8351											
SLC17A2	10246	broad.mit.edu	37	chr6	25917030	25917030	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcccaaagtggtaggcaTgtgaccatcgcctttatggg	9	10	13	9	1	0	1	0	1	0	0	1	1	0	1	3	4	0	2	3	4	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:25917030T>A	uc011dkb.2	-	6	896	c.813A>T	c.(811-813)acA>acT	p.T271T	SLC17A2_uc011dkc.2_Silent_p.T271T|SLC17A2_uc003nfl.3_Silent_p.T271T			O00624	NPT3_HUMAN	Homo sapiens solute carrier family 17 (sodium phosphate), member 2 (SLC17A2), mRNA.	271					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						GTGGTAGGCATGTGACCATCG	0.478													A	25917030	T	A	25917030	2	1	124	1	0	0	0	0	0	0	0	1	14511	1451	51	5		5	SLC17A2	6	25917030	Silent	SNP	T	TCGA-12-5299-01A-02D-1486-08		25917030	145198037	17	8352											
DNAH8	1769	broad.mit.edu	37	chr6	38834386	38834386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctggatatgctgggcGccaggaactaccagaaaacc	13	5	11	12	1	0	1	0	0	0	1	0	4	0	3	4	3	5	1	4	3	6	2	rs139579198		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr6:38834386G>A	uc021yzh.1	+	45	6627	c.6518G>A	c.(6517-6519)cGc>cAc	p.R2173H	DNAH8_uc003ooe.2_Missense_Mutation_p.R1956H	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.R1956H(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGCTGGGCGCCAGGAACTA	0.323													A	38834386	G	A	38834386	3	1	124	1	0	0	0	0	1	0	0	0	4646	1087	38	1	6033	1	DNAH8	6	38834386	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	12917356	38834386	132280681	18	8353											
SDK1	221935	broad.mit.edu	37	chr7	4116751	4116751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacctacaccatcgaCgtggccgctgtgactgccgt	7	8	9	17	4	1	1	1	1	0	0	2	2	1	1	5	1	2	1	5	1	1	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:4116751C>T	uc003smx.3	+	20	3271	c.3132C>T	c.(3130-3132)gaC>gaT	p.D1044D	SDK1_uc010kso.3_Silent_p.D320D	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1044	Fibronectin type-III 4.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACACCATCGACGTGGCCGCTG	0.587													T	4116751	C	T	4116751	2	4	124	1	0	0	0	0	0	0	0	1	14061	535	19	1		1	SDK1	7	4116751	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08		4116751	155021912	19	8354											
RHBDD2	57414	broad.mit.edu	37	chr7	75517607	75517607	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggcacggtgtattctggGgccttgggcacaccaggggc	5	8	16	12	1	1	0	0	0	1	0	1	0	1	0	3	7	0	3	3	7	1	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:75517607G>T	uc003udw.1	+	3	1119	c.1035G>T	c.(1033-1035)ggG>ggT	p.G345G	RHBDD2_uc003udv.1_Silent_p.G204G	NM_001040456	NP_001035547	Q6NTF9	RHBD2_HUMAN	Homo sapiens rhomboid domain containing 2 (RHBDD2), transcript variant 1, mRNA.	345						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TGTATTCTGGGGCCTTGGGCA	0.622													T	75517607	G	T	75517607	2	4	124	1	0	0	0	0	0	0	0	1	13406	1219	43	4		4	RHBDD2	7	75517607	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	71400856	75517607	83621056	20	8355											
KCNH2	3757	broad.mit.edu	37	chr7	150649546	150649546	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccgaagatgagcaggtcGaaggggatggcggccaccat	11	4	17	9	3	0	2	0	1	0	1	1	6	0	3	3	5	2	1	3	5	2	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr7:150649546G>A	uc003wic.3	-	5	1925	c.1524C>T	c.(1522-1524)ttC>ttT	p.F508F	KCNH2_uc003wib.3_Silent_p.F168F|KCNH2_uc011kux.2_Silent_p.F412F|KCNH2_uc003wid.3_Silent_p.F168F|KCNH2_uc003wie.3_Silent_p.F508F	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	508			Missing (in LQT2).		blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TGAGCAGGTCGAAGGGGATGG	0.627													A	150649546	G	A	150649546	2	1	124	1	0	0	0	0	0	0	0	1	8090	1049	37	1		1	KCNH2	7	150649546	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	75131939	150649546	8489117	21	8356											
EPPK1	83481	broad.mit.edu	37	chr8	144941723	144941723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagggcaccgtgacccccGcaatgcagccgctgccttcc	6	6	12	17	3	0	1	0	1	0	0	1	2	1	2	6	2	3	4	6	2	1	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr8:144941723G>A	uc003zaa.1	-	0	5712	c.5699C>T	c.(5698-5700)gCg>gTg	p.A1900V		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	1900						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGTGACCCCCGCAATGCAGCC	0.632													A	144941723	G	A	144941723	3	1	124	1	0	0	0	0	1	0	0	0	5231	1087	38	1	1567	1	EPPK1	8	144941723	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		144941723	1422299	22	8357											
PTPRD	5789	broad.mit.edu	37	chr9	8492897	8492897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccagtttgggcttgctgCgagcaccatctcctttggtt	6	13	10	12	1	1	0	0	0	1	0	2	1	1	0	3	2	3	5	3	2	0	4			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:8492897C>T	uc003zkk.3	-	26	3175	c.2432G>A	c.(2431-2433)cGc>cAc	p.R811H	PTPRD_uc003zkp.3_Intron|PTPRD_uc003zkq.3_Intron|PTPRD_uc003zkr.3_Intron|PTPRD_uc003zks.3_Intron|PTPRD_uc022bdj.1_Intron	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	811	Fibronectin type-III 5.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R811C(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGGCTTGCTGCGAGCACCATC	0.463										TSP Lung(15;0.13)			T	8492897	C	T	8492897	3	4	124	1	0	0	0	0	1	0	0	0	12887	768	27	1	3454	1	PTPRD	9	8492897	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		8492897	132720534	23	8358											
KCNT1	57582	broad.mit.edu	37	chr9	138676650	138676650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatccgcacgtacggccGcctcttccagaagctctgct	6	9	11	15	4	2	1	0	0	2	1	4	2	4	2	4	2	3	4	4	2	2	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr9:138676650G>A	uc011mdq.2	+	26	3145	c.3071G>A	c.(3070-3072)cGc>cAc	p.R1024H	KCNT1_uc011mdr.2_Missense_Mutation_p.R851H|KCNT1_uc010nbf.3_Missense_Mutation_p.R979H|KCNT1_uc004cgo.1_Missense_Mutation_p.R773H	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	1024						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACGTACGGCCGCCTCTTCCAG	0.637													A	138676650	G	A	138676650	3	1	124	1	0	0	0	0	1	0	0	0	8149	1087	38	1	3177	1	KCNT1	9	138676650	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	130183753	138676650	2536781	24	8359											
OPN4	94233	broad.mit.edu	37	chr10	88418396	88418396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcatttgtcctgctgggcGtttggctctatgccctggcc	2	13	13	13	2	1	0	0	0	1	0	2	0	2	0	3	4	2	4	3	4	1	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr10:88418396G>A	uc010qmk.1	+	4	840	c.613G>A	c.(613-615)Gtt>Att	p.V205I	OPN4_uc001kdp.3_Missense_Mutation_p.V205I|OPN4_uc001kdq.3_Missense_Mutation_p.V194I|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	194					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CCTGCTGGGCGTTTGGCTCTA	0.647													A	88418396	G	A	88418396	3	1	124	1	0	0	0	0	1	0	0	0	10958	1145	40	1	631	1	OPN4	10	88418396	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		88418396	47116351	25	8360											
SCUBE2	57758	broad.mit.edu	37	chr11	9074727	9074727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcagtgcagggacacacGgggtgacacacttgtgggca	10	5	15	11	2	0	1	0	1	0	0	0	2	0	2	1	4	1	3	1	4	0	1	rs77907325		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:9074727G>A	uc001mhi.2	-	11	1441	c.1366C>T	c.(1366-1368)Cgt>Tgt	p.R456C	SCUBE2_uc021qdk.1_5'Flank|SCUBE2_uc001mhj.2_Intron	NM_020974	NP_066025	Q9NQ36	SCUB2_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 2 (SCUBE2), transcript variant 1, mRNA.	456						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		AGGGACACACGGGGTGACACA	0.537													A	9074727	G	A	9074727	3	1	124	1	0	0	0	0	1	0	0	0	14038	1116	39	1	1768	1	SCUBE2	11	9074727	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		9074727	125931789	26	8361											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985881	117985881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacatactgctgcaggcGtcagtccaggtcattgacag	9	10	11	11	1	3	2	2	2	1	0	4	2	4	2	1	2	3	2	1	2	1	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:117985881G>A	uc021qrd.1	+	10	1329	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	346	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552													A	117985881	G	A	117985881	2	1	124	1	0	0	0	0	0	0	0	1	16349	1132	40	1		1	TMPRSS4	11	117985881	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	108911154	117985881	17020635	27	8362											
C1QTNF5	83552	broad.mit.edu	37	chr11	119216274	119216274	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccacacgcagtgggtgttgGgggggtaagggtctgggtag	6	8	21	6	1	1	0	0	0	1	0	1	0	1	0	1	6	0	4	1	6	2	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:119216274G>C	uc010rzg.1	-	4	657	c.497C>G	c.(496-498)cCc>cGc	p.P166R	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	166	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		GTGGGTGTTGGGGGGGTAAGG	0.567													C	119216274	G	C	119216274	3	2	124	1	0	0	0	0	1	0	0	0	1986	1232	43	4		4	C1QTNF5	11	119216274	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	1230393	119216274	15790242	28	8363											
POU2F3	25833	broad.mit.edu	37	chr11	120168973	120168973	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctcttgcttccacttgcaGattaaaaccgaagatctcag	11	12	6	12	1	2	2	1	0	2	2	5	3	4	2	3	0	3	2	3	0	3	4			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:120168973G>C	uc021qrk.1	+	4	173	c.139_splice	c.e4-1	p.I47_splice	POU2F3_uc001pxc.3_Splice_Site_p.I45_splice|POU2F3_uc010rzk.2_Splice_Site|POU2F3_uc010rzl.2_Splice_Site	NM_001244682	NP_001231611	Q9UKI9	PO2F3_HUMAN	Homo sapiens POU class 2 homeobox 3 (POU2F3), transcript variant 2, mRNA.	45					negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TCCACTTGCAGATTAAAACCG	0.547													C	120168973	G	C	120168973	5	2	124	1	0	0	0	0	0	0	1	0	12350	956	33	4	146	4	POU2F3	11	120168973	Splice_Site	SNP	G	TCGA-12-5299-01A-02D-1486-08	952699	120168973	14837543	29	8364											
ZNF202	7753	broad.mit.edu	37	chr11	123600382	123600382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgctgctctgccggtgccCccagatctgggctctgtgtg	3	10	14	14	2	3	1	0	0	3	1	3	2	3	1	3	2	3	3	3	2	0	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:123600382C>A	uc001pzd.1	-	4	954	c.554G>T	c.(553-555)gGg>gTg	p.G185V	ZNF202_uc001pzc.1_5'UTR|ZNF202_uc001pze.1_Missense_Mutation_p.G185V|ZNF202_uc001pzf.1_Missense_Mutation_p.G185V	NM_003455	NP_003446	O95125	ZN202_HUMAN	Homo sapiens zinc finger protein 202 (ZNF202), mRNA.	185					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TGCCGGTGCCCCCAGATCTGG	0.607													A	123600382	C	A	123600382	3	1	124	1	0	0	0	0	1	0	0	0	17864	623	22	4	1412	4	ZNF202	11	123600382	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	3431409	123600382	11406134	30	8365											
ACAD8	27034	broad.mit.edu	37	chr11	134128470	134128470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggcacaaattttgcccaCcgctctgtaccatggagaag	12	8	10	11	1	1	2	0	0	1	2	1	3	1	2	3	2	2	3	3	2	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr11:134128470C>T	uc001qhk.3	+	3	503	c.442C>T	c.(442-444)Ccg>Tcg	p.P148S	ACAD8_uc009zdc.3_Missense_Mutation_p.P50S|ACAD8_uc010sco.1_Missense_Mutation_p.P50S|ACAD8_uc010scp.1_Non-coding_Transcript|ACAD8_uc010scq.2_Missense_Mutation_p.P71S|ACAD8_uc001qhl.3_Intron|ACAD8_uc010scr.1_Missense_Mutation_p.P110S|ACAD8_uc009zde.1_Missense_Mutation_p.P21S	NM_014384	NP_055199	Q9UKU7	ACAD8_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 8 (ACAD8), nuclear gene encoding mitochondrial protein, mRNA.	148					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.P148P(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		ATTTTGCCCACCGCTCTGTAC	0.468													T	134128470	C	T	134128470	3	4	124	1	0	0	0	0	1	0	0	0	110	507	18	2	456	2	ACAD8	11	134128470	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	10528088	134128470	878046	31	8366											
TMEM117	84216	broad.mit.edu	37	chr12	44782427	44782427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgatcaagacccaaCgacttctaaaagtacaccta	17	7	6	11	1	2	3	1	1	1	2	2	4	2	3	2	0	3	2	2	0	7	4	rs150984405		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:44782427C>T	uc001rod.3	+	7	1583	c.1517C>T	c.(1516-1518)aCg>aTg	p.T506M	TMEM117_uc001roe.3_Missense_Mutation_p.T402M|TMEM117_uc009zkc.3_3'UTR	NM_032256	NP_115632	Q9H0C3	TM117_HUMAN	Homo sapiens transmembrane protein 117 (TMEM117), mRNA.	506						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		CAAGACCCAACGACTTCTAAA	0.398													T	44782427	C	T	44782427	3	4	124	1	0	0	0	0	1	0	0	0	16131	536	19	1	1543	1	TMEM117	12	44782427	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		44782427	89069468	32	8367											
NR2C1	7181	broad.mit.edu	37	chr12	95425195	95425195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacattcatcacttgccaGcactgggcaagaccaagagt	12	8	9	12	0	2	2	2	0	0	2	2	2	2	2	2	1	3	3	2	1	3	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:95425195G>A	uc001tdm.4	-	10	1579	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	NR2C1_uc010suu.1_Intron|NR2C1_uc001tdn.4_Silent_p.C441C|NR2C1_uc001tdo.4_Silent_p.C441C	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	441					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCACTTGCCAGCACTGGGCAA	0.368													A	95425195	G	A	95425195	2	1	124	1	0	0	0	0	0	0	0	1	10698	963	34	2		2	NR2C1	12	95425195	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	50642768	95425195	38426700	33	8368											
VPS29	51699	broad.mit.edu	37	chr12	110929907	110929907	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctggatatccatcaacAcaaatgatggaataatgttt	16	11	7	7	0	1	1	1	1	0	0	2	3	2	3	2	2	2	1	2	2	6	3			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:110929907A>G	uc001tqy.3	-	3	512	c.452T>C	c.(451-453)gTg>gCg	p.V151A	VPS29_uc001tqw.3_Non-coding_Transcript|VPS29_uc001tqx.3_Missense_Mutation_p.V155A|VPS29_uc001tqz.3_Non-coding_Transcript	NM_016226	NP_057310	Q9UBQ0	VPS29_HUMAN	Homo sapiens vacuolar protein sorting 29 homolog (S. cerevisiae) (VPS29), transcript variant 1, mRNA.	151					protein transport	endosome membrane	metal ion binding|phosphoserine phosphatase activity			kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						ATCCATCAACACAAATGATGG	0.328													G	110929907	A	G	110929907	3	3	124	1	0	0	0	0	1	0	0	0	17302	159	6	3	100	3	VPS29	12	110929907	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08	15504712	110929907	22921988	34	8369											
KSR2	283455	broad.mit.edu	37	chr12	118198984	118198984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatgggcggcgtgcccggcGgggtcacggtggtgacgatg	4	7	20	10	6	2	1	2	1	0	0	2	2	2	1	1	7	1	0	1	7	0	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr12:118198984G>A	uc001two.2	-	3	786	c.731C>T	c.(730-732)cCg>cTg	p.P244L		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	273	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGTGCCCGGCGGGGTCACGGT	0.701													A	118198984	G	A	118198984	3	1	124	1	0	0	0	0	1	0	0	0	8641	1116	39	1	2102	1	KSR2	12	118198984	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	7269077	118198984	15652911	35	8370											
ARHGAP5	394	broad.mit.edu	37	chr14	32561686	32561686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttattttagggaaggAtggccttgcccaagaactag	10	13	10	8	0	0	1	0	0	0	1	0	3	0	3	3	3	2	0	3	3	6	7			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr14:32561686A>T	uc001wrl.3	+	1	2050	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	ARHGAP5_uc001wrm.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wrn.3_Missense_Mutation_p.D604V|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	604					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TTAGGGAAGGATGGCCTTGCC	0.373													T	32561686	A	T	32561686	3	4	124	1	0	0	0	0	1	0	0	0	889	333	12	5	1813	5	ARHGAP5	14	32561686	Missense_Mutation	SNP	A	TCGA-12-5299-01A-02D-1486-08		32561686	74787854	36	8371											
ITGAX	3687	broad.mit.edu	37	chr16	31384692	31384692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgcaggactgtcctaccGctacgtggcagagggccagg	7	5	14	15	3	0	1	0	0	0	1	1	2	1	2	5	4	2	3	5	4	2	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr16:31384692G>A	uc002ebt.3	+	19	2556	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H	ITGAX_uc002ebu.1_Missense_Mutation_p.R830H	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	830					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGTCCTACCGCTACGTGGCA	0.622													A	31384692	G	A	31384692	3	1	124	1	0	0	0	0	1	0	0	0	7947	1087	38	1	2567	1	ITGAX	16	31384692	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		31384692	58970061	37	8372											
KRT23	25984	broad.mit.edu	37	chr17	39092707	39092707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggggtgggcagctcCgcgtggtgaaggacagggag	7	5	20	9	2	0	1	0	1	0	0	2	3	2	3	2	6	1	2	2	6	1	0	rs148371500		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39092707C>T	uc002hvm.1	-	1	738	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	KRT23_uc010wfl.1_Intron|KRT23_uc010cxf.1_Intron|KRT23_uc010cxg.3_Missense_Mutation_p.R50Q|KRT23_uc002hvn.1_Missense_Mutation_p.R50Q	NM_015515	NP_056330	Q9C075	K1C23_HUMAN	Homo sapiens keratin 23 (histone deacetylase inducible) (KRT23), mRNA.	50	Head.					intermediate filament	structural molecule activity	p.T49T(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TGGGCAGCTCCGCGTGGTGAA	0.692													T	39092707	C	T	39092707	3	4	124	1	0	0	0	0	1	0	0	0	8518	652	23	1	1151	1	KRT23	17	39092707	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		39092707	42102503	38	8373											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39262036	39262036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccagctgctgtgtgtcCagctgctgcaagccccagtg	5	8	12	16	1	0	0	0	0	0	0	1	0	1	0	5	0	6	5	5	0	1	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:39262036C>T	uc010wfp.2	+	0	396	c.396C>T	c.(394-396)tcC>tcT	p.S132S		NM_001146041	NP_001139513	Q9BYQ8	KRA49_HUMAN	Homo sapiens keratin associated protein 4-9 (KRTAP4-9), mRNA.	132	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						gctgtgtgtccagctgctgca	0.662													T	39262036	C	T	39262036	2	4	124	1	0	0	0	0	0	0	0	1	8616	581	21	2		2	KRTAP4-9	17	39262036	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	169329	39262036	41933174	39	8374											
DGKE	8526	broad.mit.edu	37	chr17	54940030	54940030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggggagccttgggcccaaGggccctgcactgtcaccata	8	7	13	13	0	1	0	1	0	0	0	1	1	1	1	4	4	2	1	4	4	2	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:54940030G>T	uc002iur.3	+	11	1762	c.1582G>T	c.(1582-1584)Ggg>Tgg	p.G528W	DGKE_uc002ius.1_3'UTR	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	528					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TTGGGCCCAAGGGCCCTGCAC	0.448													T	54940030	G	T	54940030	3	4	124	1	0	0	0	0	1	0	0	0	4507	1000	35	4	1624	4	DGKE	17	54940030	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	15677994	54940030	26255180	40	8375											
CASKIN2	57513	broad.mit.edu	37	chr17	73498864	73498864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggccctggggccgggctaGagggtgagccctgggggtac	4	6	21	10	1	0	2	0	1	0	1	0	2	0	2	3	7	2	2	3	7	2	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:73498864G>C	uc002joc.3	-	17	2841	c.2291C>G	c.(2290-2292)tCt>tGt	p.S764C	CASKIN2_uc010wsc.2_Missense_Mutation_p.S682C	NM_020753	NP_001136115	Q8WXE0	CSKI2_HUMAN	Homo sapiens CASK interacting protein 2 (CASKIN2), transcript variant 1, mRNA.	764	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGCCGGGCTAGAGGGTGAGCC	0.667													C	73498864	G	C	73498864	3	2	124	1	0	0	0	0	1	0	0	0	2693	942	33	4	1329	4	CASKIN2	17	73498864	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	18558834	73498864	7696346	41	8376											
EVPL	2125	broad.mit.edu	37	chr17	74017966	74017966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtactcccgccgcacGcccgcagggtcggccatgag	6	5	12	18	6	0	1	0	1	0	0	3	1	1	1	5	2	1	3	5	2	1	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:74017966G>A	uc010wss.1	-	6	1017	c.789C>T	c.(787-789)ggC>ggT	p.G263G	EVPL_uc002jqi.2_Silent_p.G263G|EVPL_uc010wst.1_5'UTR	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	263	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCCGCCGCACGCCCGCAGGGT	0.756													A	74017966	G	A	74017966	2	1	124	1	0	0	0	0	0	0	0	1	5333	1074	38	1		1	EVPL	17	74017966	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	519102	74017966	7177244	42	8377											
SLC25A10	1468	broad.mit.edu	37	chr17	79682531	79682531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctactccctgactcggttCgccatctacgagactgtgcg	7	10	9	15	4	1	2	0	1	1	1	4	3	2	2	3	1	3	1	3	1	2	3	rs146181618	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr17:79682531C>T	uc010wut.2	+	6	834	c.702C>T	c.(700-702)ttC>ttT	p.F234F	SLC25A10_uc002kbi.3_Silent_p.F79F|SLC25A10_uc010dif.3_Silent_p.F79F|SLC25A10_uc010wuu.2_Silent_p.F33F	NM_012140	NP_036272	Q9UBX3	DIC_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 (SLC25A10), nuclear gene encoding mitochondrial protein, mRNA.	79					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	TGACTCGGTTCGCCATCTACG	0.687													T	79682531	C	T	79682531	2	4	124	1	0	0	0	0	0	0	0	1	14566	883	31	1		1	SLC25A10	17	79682531	Silent	SNP	C	TCGA-12-5299-01A-02D-1486-08	5664565	79682531	1512679	43	8378											
ADNP2	22850	broad.mit.edu	37	chr18	77896288	77896288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcatggggaggagcagcctCccatcctaaatgccgatgca	10	6	13	12	1	0	0	0	0	0	0	2	3	2	2	4	4	4	3	4	4	2	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr18:77896288C>A	uc002lnw.3	+	3	3447	c.2992C>A	c.(2992-2994)Ccc>Acc	p.P998T		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	998					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GGAGCAGCCTCCCATCCTAAA	0.517													A	77896288	C	A	77896288	3	1	124	1	0	0	0	0	1	0	0	0	324	855	30	4	3002	4	ADNP2	18	77896288	Missense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08		77896288	180960	44	8379											
ZNF358	140467	broad.mit.edu	37	chr19	7585663	7585663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtgcccagcccagaccTtgatcctgtgcccagcccag	6	8	9	18	0	0	2	0	1	0	1	1	2	1	2	7	0	4	0	7	0	0	2	rs28655671		TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:7585663T>C	uc002mgn.2	+	1	1705	c.1535T>C	c.(1534-1536)cTt>cCt	p.L512P	ZNF358_uc021unu.1_Missense_Mutation_p.L512P|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	512					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						AGCCCAGACCTTGATCCTGTG	0.647													C	7585663	T	C	7585663	3	2	124	1	0	0	0	0	1	0	0	0	17968	1609	56	3	1537	3	ZNF358	19	7585663	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08		7585663	51543320	45	8380											
MEGF8	1954	broad.mit.edu	37	chr19	42855690	42855690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcccggtacccacacgggGgctgtcgaggctgggacgac	6	5	17	13	4	0	0	0	0	0	0	1	3	0	1	2	6	1	3	2	6	1	1			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr19:42855690G>A	uc002otl.4	+	15	3399	c.2764G>A	c.(2764-2766)Ggc>Agc	p.G922S	MEGF8_uc002otm.4_Missense_Mutation_p.G530S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	989	PSI 3.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CCCACACGGGGGCTGTCGAGG	0.662													A	42855690	G	A	42855690	3	1	124	1	0	0	0	0	1	0	0	0	9538	1232	43	2	2826	2	MEGF8	19	42855690	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08	35270027	42855690	16273293	46	8381											
DYNLRB1	83658	broad.mit.edu	37	chr20	33114101	33114101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagacactgaagcgacTgcagagccagaagggagtgc	13	3	17	8	1	0	4	0	1	0	3	0	8	0	6	1	3	4	1	1	3	2	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr20:33114101T>C	uc002xal.3	+	1	92	c.32T>C	c.(31-33)cTg>cCg	p.L11P	DYNLRB1_uc010zuk.2_Missense_Mutation_p.L11P|DYNLRB1_uc002xao.3_Non-coding_Transcript	NM_014183	NP_054902	Q9NP97	DLRB1_HUMAN	Homo sapiens dynein, light chain, roadblock-type 1 (DYNLRB1), mRNA.	11					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CTGAAGCGACTGCAGAGCCAG	0.587													C	33114101	T	C	33114101	3	2	124	1	0	0	0	0	1	0	0	0	4889	1580	55	3	38	3	DYNLRB1	20	33114101	Missense_Mutation	SNP	T	TCGA-12-5299-01A-02D-1486-08		33114101	29911419	47	8382											
AIRE	326	broad.mit.edu	37	chr21	45706905	45706905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaggaagcccccggccGtccccaaggctttggtaccg	7	5	15	14	3	0	0	0	0	0	0	1	2	1	2	6	6	2	2	6	6	3	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chr21:45706905G>A	uc002zei.2	+	2	479	c.352G>A	c.(352-354)Gtc>Atc	p.V118I		NM_000383	NP_000374	O43918	AIRE_HUMAN	Homo sapiens autoimmune regulator (AIRE), transcript variant AIRE-1, mRNA.	118					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GCCCCCGGCCGTCCCCAAGGC	0.672									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				A	45706905	G	A	45706905	3	1	124	1	0	0	0	0	1	0	0	0	437	1145	40	1	362	1	AIRE	21	45706905	Missense_Mutation	SNP	G	TCGA-12-5299-01A-02D-1486-08		45706905	2422990	48	8383											
ARSD	414	broad.mit.edu	37	chrX	2836003	2836003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaacaggcagcccacGccggccatgccggtgactgc	11	4	12	14	3	0	2	0	2	0	0	0	2	0	2	4	3	4	1	4	3	2	0			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:2836003G>A	uc004cqy.3	-	4	805	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_001669	NP_001660	P51689	ARSD_HUMAN	Homo sapiens arylsulfatase D (ARSD), mRNA.	235						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCAGCCCACGCCGGCCATGC	0.592													A	2836003	G	A	2836003	2	1	124	1	0	0	0	0	0	0	0	1	994	1074	38	1		1	ARSD	23	2836003	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08		2836003	152434557	49	8384											
CXorf58	254158	broad.mit.edu	37	chrX	23953460	23953460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgatctcaaaccgtctaCgaaatgaaatgaagtttctg	14	11	9	7	2	3	3	1	3	3	0	4	5	3	3	1	0	2	1	1	0	5	2			TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:23953460C>T	uc004daz.1	+	6	1047	c.703C>T	c.(703-705)Cga>Tga	p.R235*	CXorf58_uc011mju.1_Nonsense_Mutation_p.R235*	NM_152761	NP_689974	Q96LI9	CX058_HUMAN	Homo sapiens chromosome X open reading frame 58 (CXorf58), transcript variant 1, mRNA.	235										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAACCGTCTACGAAATGAAAT	0.378													T	23953460	C	T	23953460	4	4	124	1	0	0	0	0	0	1	0	0	4147	528	19	1	725	1	CXorf58	23	23953460	Nonsense_Mutation	SNP	C	TCGA-12-5299-01A-02D-1486-08	21117457	23953460	131317100	50	8385											
ZNF182	7569	broad.mit.edu	37	chrX	47842386	47842386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggatttttccttctgccggGcattcttctacctccaactt	5	16	7	13	1	3	0	0	0	3	0	5	1	5	1	4	2	3	1	4	2	2	7	rs141215624	byFrequency	TCGA-12-5299-01A-02D-1486-08	TCGA-12-5299-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a44954fc-49f2-489a-8593-7de98963e4f8	dd77b73d-a3a8-4b16-82cb-d7225658a07d	g.chrX:47842386G>A	uc004dir.3	-	5	598	c.252C>T	c.(250-252)tgC>tgT	p.C84C	ZNF182_uc004dis.3_Silent_p.C65C|ZNF182_uc004dit.3_Silent_p.C84C	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	84	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CTTCTGCCGGGCATTCTTCTA	0.478													A	47842386	G	A	47842386	2	1	124	1	0	0	0	0	0	0	0	1	17851	1195	42	2		2	ZNF182	23	47842386	Silent	SNP	G	TCGA-12-5299-01A-02D-1486-08	23888926	47842386	107428174	51	8386											
CAMTA1	23261	broad.mit.edu	37	chr1	7811328	7811329	+	Frame_Shift_Ins	INS	-	-	A																															attccgaagttactatgaacINSaaaaaaaattccagcagagc																										TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:7811328_7811329insA	uc001aoi.3	+	19	4966_4967	c.4759_4760insA	c.(4759-4761)caafs	p.Q1587fs	CAMTA1_uc001aok.4_Frame_Shift_Ins_p.Q630fs|CAMTA1_uc001aoj.3_Frame_Shift_Ins_p.Q550fs|CAMTA1_uc009vmf.3_Frame_Shift_Ins_p.Q177fs	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1587	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding	p.K1589fs*33(1)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TTACTATGAACAAAAAAAATTC	0.47			T	WWTR1	epitheliod hemangioendothelioma								A	7811329	-	A	7811328	7	5	125	1	0	1	1	0	0	0	0	0	2639	479	17	0	4837	0	CAMTA1	1	7811328	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08		7811328	241439293	1	8387											
SPRR1B	6699	broad.mit.edu	37	chr1	153004854	153004854	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagaagcagccttgcacCccaccccctcagcttcagca	10	5	7	19	0	2	1	2	0	0	1	2	1	2	1	5	0	6	5	5	0	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:153004854C>G	uc001fba.3	+	1	97	c.33C>G	c.(31-33)acC>acG	p.T11T	SPRR1B_uc021ozp.1_Silent_p.T11T	NM_003125	NP_003116	P22528	SPR1B_HUMAN	Homo sapiens small proline-rich protein 1B (SPRR1B), mRNA.	11	2 X 12 AA approximate repeats.		T -> I (in dbSNP:rs3795382).		keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCCTTGCACCCCACCCCCTC	0.557													G	153004854	C	G	153004854	2	3	125	1	0	0	0	0	0	0	0	1	15192	610	22	4		4	SPRR1B	1	153004854	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	145193526	153004854	96245767	2	8388											
NUP210L	91181	broad.mit.edu	37	chr1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggatgatttccaattcGgaatgtgagaacctttaagg	12	12	10	7	1	0	2	0	2	0	1	2	5	1	4	3	3	1	0	3	3	4	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:154062058G>A	uc001fdw.3	-	15	2272	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Nonsense_Mutation_p.R734*	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423													A	154062058	G	A	154062058	4	1	125	1	0	0	0	0	0	1	0	0	10837	1124	39	1	3566	1	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	1057204	154062058	95188563	3	8389											
ATP1A4	480	broad.mit.edu	37	chr1	160136448	160136448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaccctcacccagaaccGcatgaccgtcgcccacatgt	9	5	9	18	3	1	2	1	1	0	1	2	2	1	2	5	1	1	2	5	1	1	0	rs139315814		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:160136448G>A	uc001fve.4	+	7	1657	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	ATP1A4_uc001fvf.4_Non-coding_Transcript|ATP1A4_uc001fvg.3_5'UTR	NM_144699	NP_653300	Q13733	AT1A4_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 4 polypeptide (ATP1A4), transcript variant 1, mRNA.	393					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACCCAGAACCGCATGACCGTC	0.577													A	160136448	G	A	160136448	3	1	125	1	0	0	0	0	1	0	0	0	1136	1087	38	1	1208	1	ATP1A4	1	160136448	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	6074390	160136448	89114173	4	8390											
SELP	6403	broad.mit.edu	37	chr1	169562857	169562857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttacctttttgtctgaaaCgctttcttagcaaagccagg	10	15	7	9	1	2	1	0	1	2	0	2	1	2	1	2	1	4	2	2	1	4	6			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:169562857C>T	uc001ggi.4	-	13	2458	c.2393G>A	c.(2392-2394)cGt>cAt	p.R798H	SELP_uc001ggh.3_Intron|SELP_uc009wvr.3_Missense_Mutation_p.R797H	NM_003005	NP_002996	P16109	LYAM3_HUMAN	Homo sapiens selectin P (granule membrane protein 140kDa, antigen CD62) (SELP), mRNA.	798					platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	p.R798C(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TTGTCTGAAACGCTTTCTTAG	0.423													T	169562857	C	T	169562857	3	4	125	1	0	0	0	0	1	0	0	0	14112	536	19	1	111	1	SELP	1	169562857	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	9426409	169562857	79687764	5	8391											
FMO3	2328	broad.mit.edu	37	chr1	171080061	171080061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaatttaccgacagcCatctctgactggttgtacgt	12	11	8	10	2	1	2	0	1	1	1	2	3	1	2	2	1	4	2	2	1	5	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:171080061C>T	uc001ghi.3	+	5	861	c.750C>T	c.(748-750)gcC>gcT	p.A250A	FMO3_uc001ghh.3_Silent_p.A250A|FMO3_uc010pmb.2_Silent_p.A230A|FMO3_uc010pmc.2_Silent_p.A187A	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	250					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TACCGACAGCCATCTCTGACT	0.468													T	171080061	C	T	171080061	2	4	125	1	0	0	0	0	0	0	0	1	6005	581	21	2		2	FMO3	1	171080061	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	1517204	171080061	78170560	6	8392											
TNN	63923	broad.mit.edu	37	chr1	175067712	175067712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggagagcaagaaggcCgacaccaaggcccagacagg	15	0	14	12	1	0	3	0	0	0	3	0	6	0	3	4	4	1	1	4	4	3	0	rs150075962	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:175067712C>T	uc001gkl.1	+	8	2213	c.2100C>T	c.(2098-2100)gcC>gcT	p.A700A	TNN_uc010pmx.1_Silent_p.A611A	NM_022093	NP_071376	Q9UQP3	TENN_HUMAN	Homo sapiens tenascin N (TNN), mRNA.	700	Fibronectin type-III 5.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix		p.A700A(4)		NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCAAGAAGGCCGACACCAAGG	0.572													T	175067712	C	T	175067712	2	4	125	1	0	0	0	0	0	0	0	1	16423	639	23	1		1	TNN	1	175067712	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3987651	175067712	74182909	7	8393											
OR2T11	127077	broad.mit.edu	37	chr1	248790297	248790297	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgagagtccacctgaatcaAgaatatcatgaccaaatttg	15	9	8	9	1	2	4	2	2	0	2	3	5	3	4	3	0	0	0	3	0	5	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr1:248790297A>G	uc001ier.1	-	0	133	c.133T>C	c.(133-135)Ttg>Ctg	p.L45L		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCTGAATCAAGAATATCATG	0.502													G	248790297	A	G	248790297	2	3	125	1	0	0	0	0	0	0	0	1	11094	69	3	3		3	OR2T11	1	248790297	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	73722585	248790297	460324	8	8394											
THADA	63892	broad.mit.edu	37	chr2	43768396	43768396	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagcaacttccttcatacTtctccaacaacataccagca	15	10	2	14	0	2	0	1	0	1	0	4	0	3	0	3	0	7	2	3	0	7	6			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:43768396T>G	uc002rsw.4	-	20	3518	c.3166A>C	c.(3166-3168)Agt>Cgt	p.S1056R	THADA_uc010far.3_Missense_Mutation_p.S325R|THADA_uc002rsx.4_Missense_Mutation_p.S1056R|THADA_uc002rsy.4_Non-coding_Transcript|THADA_uc010fas.1_Non-coding_Transcript|THADA_uc002rsz.3_Missense_Mutation_p.S765R|THADA_uc010fat.1_Missense_Mutation_p.S203R|THADA_uc002rta.2_Missense_Mutation_p.S766R	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1056							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCCTTCATACTTCTCCAACAA	0.418													G	43768396	T	G	43768396	3	3	125	1	0	0	0	0	1	0	0	0	15940	1609	56	5	2767	5	THADA	2	43768396	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08		43768396	199430977	9	8395											
SLC9A4	389015	broad.mit.edu	37	chr2	103095704	103095704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaggaagcgcgcgtgaaCgagcagctctacatgatgat	11	9	13	8	4	1	4	0	4	1	0	1	6	1	5	0	1	5	2	0	1	3	2	rs115868705	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:103095704C>T	uc002tbz.4	+	1	1120	c.663C>T	c.(661-663)aaC>aaT	p.N221N		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	221					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CGCGCGTGAACGAGCAGCTCT	0.612													T	103095704	C	T	103095704	2	4	125	1	0	0	0	0	0	0	0	1	14810	535	19	1		1	SLC9A4	2	103095704	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	59327308	103095704	140103669	10	8396											
VIL1	7429	broad.mit.edu	37	chr2	219295468	219295468	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttcatcaaagccaagcaGtacccaccaagcacacaggt	16	5	6	14	0	2	0	2	0	0	0	2	0	2	0	3	1	5	3	3	1	5	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr2:219295468G>C	uc002vib.3	+	8	991	c.969G>C	c.(967-969)caG>caC	p.Q323H	VIL1_uc010zke.2_Missense_Mutation_p.Q12H|VIL1_uc002via.3_Missense_Mutation_p.Q323H|VIL1_uc002vic.1_Missense_Mutation_p.Q323H	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	323	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AAGCCAAGCAGTACCCACCAA	0.557													C	219295468	G	C	219295468	3	2	125	1	0	0	0	0	1	0	0	0	17266	1020	36	4	1003	4	VIL1	2	219295468	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	116199764	219295468	23903905	11	8397											
FGD5	152273	broad.mit.edu	37	chr3	14861427	14861427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggatgtgaagaggccacGggtgtcacaggtggggaaca	11	5	19	6	1	1	2	1	1	0	1	1	5	1	4	1	6	1	0	1	6	2	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:14861427G>A	uc003bzc.3	+	0	959	c.849G>A	c.(847-849)acG>acA	p.T283T	FGD5_uc011avk.2_Silent_p.T283T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	283	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AAGAGGCCACGGGTGTCACAG	0.607													A	14861427	G	A	14861427	2	1	125	1	0	0	0	0	0	0	0	1	5885	1103	39	1		1	FGD5	3	14861427	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08		14861427	183161003	12	8398											
TRANK1	9881	broad.mit.edu	37	chr3	36874402	36874402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgccaccaagttcattttCgactgaactaaacacttggc	12	12	6	11	1	1	1	1	1	0	0	2	2	1	1	2	1	3	1	2	1	4	6			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:36874402C>T	uc003cgj.3	-	20	6788	c.6540G>A	c.(6538-6540)tcG>tcA	p.S2180S		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	2180					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGTTCATTTTCGACTGAACTA	0.378													T	36874402	C	T	36874402	2	4	125	1	0	0	0	0	0	0	0	1	16555	871	31	1		1	TRANK1	3	36874402	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	22012975	36874402	161148028	13	8399											
ZNF167	55888	broad.mit.edu	37	chr3	44611913	44611913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacccacacaggggaaaaAccctatgaatgcagtgagtg	16	5	11	9	0	0	3	0	2	0	1	0	4	0	4	2	2	3	1	2	2	5	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:44611913A>C	uc003cnj.3	+	5	1727	c.1311A>C	c.(1309-1311)aaA>aaC	p.K437N	ZNF167_uc003cnk.3_Intron|ZNF167_uc003cnh.3_Non-coding_Transcript|ZNF167_uc010hin.3_Missense_Mutation_p.K437N|ZNF167_uc003cni.3_Intron|ZNF167_uc010hio.3_Missense_Mutation_p.K286N	NM_018651	NP_061121	Q9P0L1	ZN167_HUMAN	Homo sapiens zinc finger protein 167 (ZNF167), transcript variant 1, mRNA.	437					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(12)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				KIRC - Kidney renal clear cell carcinoma(197;0.0486)|Kidney(197;0.0609)		CAGGGGAAAAACCCTATGAAT	0.473													C	44611913	A	C	44611913	3	2	125	1	0	0	0	0	1	0	0	0	17842	40	2	5	1329	5	ZNF167	3	44611913	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	7737511	44611913	153410517	14	8400											
AMT	275	broad.mit.edu	37	chr3	49455400	49455400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatagcagctcggcggCgcttccctggagaatgacac	9	7	12	13	3	0	2	0	1	0	1	3	3	2	2	2	3	2	3	2	3	2	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:49455400C>T	uc003cww.3	-	7	1112	c.884G>A	c.(883-885)cGc>cAc	p.R295H	AMT_uc011bcn.2_Intron|AMT_uc003cwx.3_Missense_Mutation_p.R295H|AMT_uc011bco.2_Missense_Mutation_p.R251H|AMT_uc003cwy.3_Missense_Mutation_p.R247H|AMT_uc011bcq.2_Missense_Mutation_p.R239H|AMT_uc011bcp.2_Missense_Mutation_p.R198H	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	295					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGCTCGGCGGCGCTTCCCTGG	0.582													T	49455400	C	T	49455400	3	4	125	1	0	0	0	0	1	0	0	0	589	768	27	1	363	1	AMT	3	49455400	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	4843487	49455400	148567030	15	8401											
CACNA1D	776	broad.mit.edu	37	chr3	53531323	53531323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcccaaactatgagcaCctctgcacccccacctgtag	9	7	8	17	0	1	1	0	1	1	0	1	1	1	1	5	1	4	4	5	1	3	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:53531323C>T	uc003dgv.4	+	1	375	c.212C>T	c.(211-213)aCc>aTc	p.T71I	CACNA1D_uc003dgu.4_Missense_Mutation_p.T71I|CACNA1D_uc003dgy.4_Missense_Mutation_p.T71I	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	71					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	ACTATGAGCACCTCTGCACCC	0.542													T	53531323	C	T	53531323	3	4	125	1	0	0	0	0	1	0	0	0	2567	507	18	2	218	2	CACNA1D	3	53531323	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	4075923	53531323	144491107	16	8402											
GCET2	257144	broad.mit.edu	37	chr3	111846908	111846908	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatatggtgatcccagcaTctaaaatacccaagagagat	15	8	9	9	1	1	3	0	1	1	2	2	5	2	3	2	1	2	1	2	1	5	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:111846908T>C	uc021xcl.1	-	3	290	c.105_splice	c.e3-1	p.R35_splice	C3orf52_uc011bht.1_Intron|C3orf52_uc003dyr.1_Intron|GCET2_uc003dys.2_Splice_Site_p.R33_splice|GCET2_uc021xcm.1_Intron	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.	33						mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						GATCCCAGCATCTAAAATACC	0.408													C	111846908	T	C	111846908	2	2	125	1	0	0	0	0	0	0	0	1	6342	1449	50	3		3	GCET2	3	111846908	Silent	SNP	T	TCGA-12-5301-01A-01D-1486-08	58315585	111846908	86175522	17	8403											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916876G>A	uc003fjk.3	+	1	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(102)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	125	1	0	0	0	0	1	0	0	0	11990	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	67069968	178916876	19105554	18	8404											
PIK3CA	5290	broad.mit.edu	37	chr3	178916936	178916936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgaaccagtaggcaaccGtgaagaaaagatcctcaatc	17	7	8	9	1	1	4	1	2	0	2	3	4	2	4	3	1	2	2	3	1	8	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:178916936G>A	uc003fjk.3	+	1	480	c.323G>A	c.(322-324)cGt>cAt	p.R108H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	108	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R108H(20)|p.G106_R108del(4)|p.R108L(3)|p.G106_R108delGNR(3)|p.R108P(2)|p.R108del(2)|p.N107S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GTAGGCAACCGTGAAGAAAAG	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916936	G	A	178916936	3	1	125	1	0	0	0	0	1	0	0	0	11990	1145	40	1	325	1	PIK3CA	3	178916936	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	60	178916936	19105494	19	8405											
MUC4	4585	broad.mit.edu	37	chr3	195484190	195484190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggtgtccacagcaacGtcccattctctgccccgggg	6	9	11	15	2	1	0	0	0	1	0	4	0	3	0	4	3	3	1	4	3	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr3:195484190G>A	uc021xjp.1	-	17	15152	c.14996C>T	c.(14995-14997)aCg>aTg	p.T4999M	MUC4_uc003fuz.3_Missense_Mutation_p.T597M|MUC4_uc003fva.3_Missense_Mutation_p.T479M|MUC4_uc003fvb.3_Missense_Mutation_p.T515M|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_Missense_Mutation_p.T515M|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_Missense_Mutation_p.T508M|MUC4_uc021xjn.1_Missense_Mutation_p.T688M|MUC4_uc021xjo.1_Missense_Mutation_p.T479M|MUC4_uc021xjg.1_Missense_Mutation_p.T479M|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_Missense_Mutation_p.T563M|MUC4_uc021xjj.1_Missense_Mutation_p.T563M|MUC4_uc021xjk.1_Missense_Mutation_p.T740M|MUC4_uc021xjl.1_Missense_Mutation_p.T479M|MUC4_uc003fvo.3_Missense_Mutation_p.T763M|MUC4_uc003fvp.3_Missense_Mutation_p.T712M	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1756					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCACAGCAACGTCCCATTCTC	0.572													A	195484190	G	A	195484190	3	1	125	1	0	0	0	0	1	0	0	0	10054	1145	40	1	1274	1	MUC4	3	195484190	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	16567254	195484190	2538240	20	8406											
MFSD7	84179	broad.mit.edu	37	chr4	680077	680077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggcaaagttcagccaCgcacccaggatggtctgcga	9	6	11	15	3	2	0	1	0	1	0	3	2	3	1	3	3	2	3	3	3	1	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:680077C>T	uc003gay.3	-	2	366	c.309G>A	c.(307-309)gcG>gcA	p.A103A	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Silent_p.A103A|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	103					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						AGTTCAGCCACGCACCCAGGA	0.652													T	680077	C	T	680077	2	4	125	1	0	0	0	0	0	0	0	1	9612	523	19	1		1	MFSD7	4	680077	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		680077	190474199	21	8407											
KDR	3791	broad.mit.edu	37	chr4	55961059	55961059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgatgctgtccaagcgccGtttcagatccacagggattg	8	10	13	10	2	1	2	1	1	0	1	3	3	3	3	3	2	2	2	3	2	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr4:55961059G>A	uc003has.3	-	20	3183	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	KDR_uc003hat.1_Missense_Mutation_p.R961W	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	961	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R961W(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCCAAGCGCCGTTTCAGATCC	0.488			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55961059	G	A	55961059	3	1	125	1	0	0	0	0	1	0	0	0	8197	1144	40	1	1229	1	KDR	4	55961059	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	55280982	55961059	135193217	22	8408											
FBN2	2201	broad.mit.edu	37	chr5	127623046	127623046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatagccaatcgggcaCgtgcattcataggacccaaa	13	6	11	11	2	1	0	1	0	0	0	2	1	1	1	2	3	2	3	2	3	4	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:127623046C>T	uc003kuu.3	-	53	7273	c.6834G>A	c.(6832-6834)acG>acA	p.T2278T		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2278	EGF-like 38; calcium-binding.		T -> M (in dbSNP:rs2307109).		bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAATCGGGCACGTGCATTCAT	0.483													T	127623046	C	T	127623046	2	4	125	1	0	0	0	0	0	0	0	1	5752	523	19	1		1	FBN2	5	127623046	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		127623046	53292214	23	8409											
WNT8A	7478	broad.mit.edu	37	chr5	137426568	137426568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatccaggtgggagcgaCgtagctgtgggcgcctgtgc	7	7	16	11	3	0	0	0	0	0	0	1	2	1	1	2	3	3	2	2	3	1	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:137426568C>T	uc011cyk.1	+	4	1152	c.916C>T	c.(916-918)Cgt>Tgt	p.R306C	WNT8A_uc011cyj.1_Missense_Mutation_p.R306C|WNT8A_uc003lcd.1_Missense_Mutation_p.R288C			Q9H1J5	WNT8A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 8A (WNT8A), mRNA.	288					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GTGGGAGCGACGTAGCTGTGG	0.542													T	137426568	C	T	137426568	3	4	125	1	0	0	0	0	1	0	0	0	17498	536	19	1	884	1	WNT8A	5	137426568	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	9803522	137426568	43488692	24	8410											
DND1	373863	broad.mit.edu	37	chr5	140052370	140052370	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctgaaggtcatcatcagGcggaactcgtagaggcggcc	9	6	14	12	4	3	2	3	1	0	1	4	3	3	3	2	5	1	2	2	5	3	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:140052370G>A	uc003lgt.3	-	2	308	c.264C>T	c.(262-264)cgC>cgT	p.R88R		NM_194249	NP_919225	Q8IYX4	DND1_HUMAN	Homo sapiens dead end homolog 1 (zebrafish) (DND1), mRNA.	88	RRM 1.				multicellular organismal development|negative regulation of gene silencing by miRNA	cytoplasm|nucleus	AU-rich element binding|nucleotide binding			central_nervous_system(1)|prostate(4)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCATCAGGCGGAACTCGT	0.667													A	140052370	G	A	140052370	2	1	125	1	0	0	0	0	0	0	0	1	4705	1190	42	2		2	DND1	5	140052370	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	2625802	140052370	40862890	25	8411											
GABRB2	2561	broad.mit.edu	37	chr5	160721276	160721276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagagcatttcggccaaAactatgcctgggcaacccag	11	8	9	13	1	0	1	0	0	0	1	2	1	1	1	4	2	4	2	4	2	4	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:160721276A>G	uc003lys.1	-	10	1569	c.1351T>C	c.(1351-1353)Ttt>Ctt	p.F451L	GABRB2_uc011deh.1_Missense_Mutation_p.F252L|GABRB2_uc003lyr.1_Missense_Mutation_p.F413L|GABRB2_uc003lyt.1_Missense_Mutation_p.F413L	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	451					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTTCGGCCAAAACTATGCCTG	0.527													G	160721276	A	G	160721276	3	3	125	1	0	0	0	0	1	0	0	0	6219	14	1	3	191	3	GABRB2	5	160721276	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	20668906	160721276	20193984	26	8412											
NOP16	51491	broad.mit.edu	37	chr5	175811029	175811030	+	Frame_Shift_Ins	INS	-	-	C																															ggttctggcttttccgtgaaINScccccagatgaatataaatt																										TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr5:175811029_175811030insC	uc003mee.3	-	4	651_652	c.651_652insG	c.(649-654)gggttcfs	p.G217fs	NOP16_uc003med.3_Frame_Shift_Ins_p.G216fs			Q9Y3C1	NOP16_HUMAN	Homo sapiens NOP16 nucleolar protein homolog (yeast) (NOP16), mRNA.	0						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TTTTCCGTGAACCCCCAGATGA	0.436													C	175811030	-	C	175811029	7	5	125	1	0	1	1	0	0	0	0	0	10613	58	2	0		0	NOP16	5	175811029	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08	15089753	175811029	5104231	27	8413											
ZNF451	26036	broad.mit.edu	37	chr6	57013164	57013164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcagtttatgttcggcaAcagcacagaatttaaccgac	12	10	9	10	2	0	1	0	0	0	1	1	2	0	1	1	1	4	6	1	1	4	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:57013164A>G	uc003pdm.1	+	9	2505	c.2281A>G	c.(2281-2283)Aca>Gca	p.T761A	ZNF451_uc003pdl.3_Missense_Mutation_p.T761A|ZNF451_uc003pdn.1_Missense_Mutation_p.T761A|BC032020_uc003pdq.1_Intron|ZNF451_uc003pdk.1_Missense_Mutation_p.T761A	NM_001031623	NP_001026794	Q9Y4E5	ZN451_HUMAN	Homo sapiens zinc finger protein 451 (ZNF451), transcript variant 1, mRNA.	761					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			ATGTTCGGCAACAGCACAGAA	0.408													G	57013164	A	G	57013164	3	3	125	1	0	0	0	0	1	0	0	0	18023	43	2	3	2319	3	ZNF451	6	57013164	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08		57013164	114101903	28	8414											
C6orf221	154288	broad.mit.edu	37	chr6	74073368	74073368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgggaggccgggacgcagCgttcggtggaggtccgggag	5	5	21	10	6	0	0	0	0	0	0	3	4	2	4	3	7	1	2	3	7	0	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:74073368C>T	uc003pgt.4	+	2	492	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	147										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						CGGGACGCAGCGTTCGGTGGA	0.667													T	74073368	C	T	74073368	3	4	125	1	0	0	0	0	1	0	0	0	2377	768	27	1	449	1	C6orf221	6	74073368	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	17060204	74073368	97041699	29	8415											
HEY2	23493	broad.mit.edu	37	chr6	126080280	126080280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggctactttgacgcacacGctcttgccatggacttcatg	8	12	9	12	2	2	1	1	1	1	0	2	2	2	2	1	2	2	3	1	2	2	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr6:126080280G>A	uc003qad.3	+	4	537	c.346G>A	c.(346-348)Gct>Act	p.A116T	HEY2_uc011ebr.2_Missense_Mutation_p.A70T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	116	Transcriptional repression and interaction with NCOR1 and SIN3A (By similarity).				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TGACGCACACGCTCTTGCCAT	0.522													A	126080280	G	A	126080280	3	1	125	1	0	0	0	0	1	0	0	0	7134	1087	38	1	364	1	HEY2	6	126080280	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	52006912	126080280	45034787	30	8416											
CALCR	799	broad.mit.edu	37	chr7	93072970	93072970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcagtaaacacagccaCgacaatgagtgtatgaagat	15	9	8	9	1	1	3	1	2	1	1	2	4	1	3	1	0	2	2	1	0	5	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:93072970C>T	uc003umv.2	-	10	1150	c.850G>A	c.(850-852)Gtg>Atg	p.V284M	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.V250M|CALCR_uc003umw.2_Missense_Mutation_p.V250M	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	266					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	AACACAGCCACGACAATGAGT	0.448													T	93072970	C	T	93072970	3	4	125	1	0	0	0	0	1	0	0	0	2605	536	19	1	700	1	CALCR	7	93072970	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		93072970	66065693	31	8417											
JHDM1D	80853	broad.mit.edu	37	chr7	139833358	139833358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgggaagactcgagagcGtaattccttaatgaaagttc	12	11	10	8	2	0	3	0	1	0	2	3	5	1	4	2	1	1	2	2	1	4	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:139833358G>A	uc003vvm.3	-	2	383	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	127					midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					ACTCGAGAGCGTAATTCCTTA	0.378													A	139833358	G	A	139833358	3	1	125	1	0	0	0	0	1	0	0	0	8006	1145	40	1	2518	1	JHDM1D	7	139833358	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	46760388	139833358	19305305	32	8418											
EPHB6	2051	broad.mit.edu	37	chr7	142568575	142568575	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccctgggcatcacccTggctggccaccagaagaagc	8	5	12	16	0	1	2	1	0	0	2	1	2	1	2	5	3	2	2	5	3	2	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142568575T>A	uc011kst.2	+	19	3771	c.2984T>A	c.(2983-2985)cTg>cAg	p.L995Q	EPHB6_uc011ksu.2_Missense_Mutation_p.L995Q|EPHB6_uc003wbs.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbt.3_Missense_Mutation_p.L469Q|EPHB6_uc003wbu.3_Missense_Mutation_p.L703Q|EPHB6_uc003wbv.3_Missense_Mutation_p.L379Q	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	995	SAM.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGCATCACCCTGGCTGGCCAC	0.617													A	142568575	T	A	142568575	3	1	125	1	0	0	0	0	1	0	0	0	5219	1580	55	5	3046	5	EPHB6	7	142568575	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08	2735217	142568575	16570088	33	8419											
KEL	3792	broad.mit.edu	37	chr7	142638355	142638355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagttaccagagctggcagCggctggaggggttcaagaga	11	6	16	8	1	1	2	1	0	0	2	1	4	1	3	1	5	3	5	1	5	3	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr7:142638355C>T	uc003wcb.3	-	18	2393	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	728					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCTGGCAGCGGCTGGAGGG	0.567													T	142638355	C	T	142638355	3	4	125	1	0	0	0	0	1	0	0	0	8200	768	27	1	19	1	KEL	7	142638355	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	69780	142638355	16500308	34	8420											
XKR6	286046	broad.mit.edu	37	chr8	11058779	11058779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcgccgccgctgcccaCcgcctcgtccaggttgtgca	3	8	10	20	5	0	0	0	0	0	0	4	0	2	0	7	1	2	3	7	1	0	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr8:11058779C>T	uc003wtk.1	-	0	97	c.70G>A	c.(70-72)Gtg>Atg	p.V24M		NM_173683	NP_775954	Q5GH73	XKR6_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 6 (XKR6), transcript variant 2, mRNA.	24	Gly-rich.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		CCGCTGCCCACCGCCTCGTCC	0.726													T	11058779	C	T	11058779	3	4	125	1	0	0	0	0	1	0	0	0	17537	507	18	2	1867	2	XKR6	8	11058779	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		11058779	135305243	35	8421											
TMEM215	401498	broad.mit.edu	37	chr9	32784817	32784817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgctcctacaagcagaaCagcccgtatgacagatactg	12	9	9	11	1	0	3	0	1	0	2	1	3	1	3	2	0	6	4	2	0	5	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:32784817C>T	uc022bfh.1	+	0	636	c.636C>T	c.(634-636)aaC>aaT	p.N212N	TMEM215_uc003zri.4_Silent_p.N212N	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	212						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACAAGCAGAACAGCCCGTATG	0.493													T	32784817	C	T	32784817	2	4	125	1	0	0	0	0	0	0	0	1	16238	477	17	2		2	TMEM215	9	32784817	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		32784817	108428614	36	8422											
CCIN	881	broad.mit.edu	37	chr9	36170861	36170861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacaccagcactggggaCgtggtccagtgtatcacctt	8	11	11	11	1	1	1	1	1	0	0	2	2	2	2	3	3	1	2	3	3	1	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:36170861C>T	uc003zzb.4	+	0	1473	c.1362C>T	c.(1360-1362)gaC>gaT	p.D454D		NM_005893	NP_005884	Q13939	CALI_HUMAN	Homo sapiens calicin (CCIN), mRNA.	454					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GCACTGGGGACGTGGTCCAGT	0.557													T	36170861	C	T	36170861	2	4	125	1	0	0	0	0	0	0	0	1	2906	535	19	1		1	CCIN	9	36170861	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3386044	36170861	105042570	37	8423											
FOXB2	442425	broad.mit.edu	37	chr9	79634932	79634932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccatactcacttgcacgCgggaagcaccaagagcgcgc	11	4	11	15	5	1	1	1	0	0	1	1	3	1	2	2	1	4	2	2	1	3	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:79634932C>T	uc004ako.1	+	0	362	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	121					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CACTTGCACGCGGGAAGCACC	0.687													T	79634932	C	T	79634932	3	4	125	1	0	0	0	0	1	0	0	0	6042	768	27	1	364	1	FOXB2	9	79634932	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	43464071	79634932	61578499	38	8424											
ZNF618	114991	broad.mit.edu	37	chr9	116731434	116731434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccggaaggaaaagcactgCgagcaggtacactccctctc	12	5	11	13	2	1	0	0	0	1	0	3	3	2	2	2	3	5	3	2	3	4	1	rs143368881	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:116731434C>T	uc004bid.3	+	1	170	c.71C>T	c.(70-72)gCg>gTg	p.A24V	ZNF618_uc004bib.1_Missense_Mutation_p.A24V|ZNF618_uc004bic.3_Missense_Mutation_p.A24V|ZNF618_uc011lxi.2_Missense_Mutation_p.A24V|ZNF618_uc011lxj.2_Missense_Mutation_p.A24V	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AAAAGCACTGCGAGCAGGTAC	0.557													T	116731434	C	T	116731434	3	4	125	1	0	0	0	0	1	0	0	0	18143	768	27	1	77	1	ZNF618	9	116731434	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	37096502	116731434	24481997	39	8425											
DBH	1621	broad.mit.edu	37	chr9	136517375	136517375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcctgccccaggagatccGcatgttgaagaaggtcgtgt	8	9	13	11	2	0	3	0	1	0	2	2	4	1	3	4	2	2	2	4	2	2	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:136517375G>A	uc004cel.3	+	7	1352	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	448					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CAGGAGATCCGCATGTTGAAG	0.672													A	136517375	G	A	136517375	3	1	125	1	0	0	0	0	1	0	0	0	4284	1087	38	1	1373	1	DBH	9	136517375	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	19785941	136517375	4696056	40	8426											
SLC34A3	142680	broad.mit.edu	37	chr9	140127306	140127306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctggactggtcattggCgtgctggtcacagccctggt	4	11	16	10	1	2	0	2	0	0	0	2	1	2	1	1	6	2	2	1	6	0	1	rs142873841	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr9:140127306C>T	uc022bqf.1	+	4	596	c.375C>T	c.(373-375)ggC>ggT	p.G125G	SLC34A3_uc004cmc.1_5'UTR|SLC34A3_uc011met.2_Silent_p.G125G|SLC34A3_uc004cmf.1_Silent_p.G125G	NM_001177316	NP_543153	Q8N130	NPT2C_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 3 (SLC34A3), transcript variant 1, mRNA.	125					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TGGTCATTGGCGTGCTGGTCA	0.617													T	140127306	C	T	140127306	2	4	125	1	0	0	0	0	0	0	0	1	14663	755	27	1		1	SLC34A3	9	140127306	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3609931	140127306	1086125	41	8427											
C10orf47	254427	broad.mit.edu	37	chr10	11908649	11908649	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtgcgatggaggagtGtgctgcctctgctccccgtc	3	11	15	12	2	1	0	0	0	1	0	3	3	2	2	3	2	5	3	3	2	0	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:11908649G>A	uc001ikx.3	+	2	412	c.258G>A	c.(256-258)gtG>gtA	p.V86V	LOC219731_uc001iky.2_Intron	NM_153256	NP_694988	Q86WR7	CJ047_HUMAN	Homo sapiens chromosome 10 open reading frame 47 (C10orf47), mRNA.	86										central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						ATGGAGGAGTGTGCTGCCTCT	0.577													A	11908649	G	A	11908649	2	1	125	1	0	0	0	0	0	0	0	1	1616	1364	48	2		2	C10orf47	10	11908649	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08		11908649	123626098	42	8428											
PPYR1	5540	broad.mit.edu	37	chr10	47086808	47086808	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacctctcacctcctggccTtgctgctcccaaaatctcca	8	10	4	19	0	2	0	1	0	2	0	6	0	4	0	6	1	2	2	6	1	2	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47086808T>A	uc001jee.3	+	2	444	c.25T>A	c.(25-27)Ttg>Atg	p.L9M	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Missense_Mutation_p.L9M|PPYR1_uc021ppu.1_Missense_Mutation_p.L9M	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	9					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTCCTGGCCTTGCTGCTCCC	0.493													A	47086808	T	A	47086808	3	1	125	1	0	0	0	0	1	0	0	0	12498	1606	56	5	27	5	PPYR1	10	47086808	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08	35178159	47086808	88447939	43	8429											
PPYR1	5540	broad.mit.edu	37	chr10	47087737	47087737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggcctccacctgcgtcaaCccattcatctatggctttct	7	13	6	15	1	4	0	2	0	2	0	5	0	5	0	4	2	2	1	4	2	2	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:47087737C>T	uc001jee.3	+	2	1373	c.954C>T	c.(952-954)aaC>aaT	p.N318N	ANXA8L1_uc001jed.4_Intron|PPYR1_uc009xna.3_Silent_p.N318N|PPYR1_uc021ppu.1_Silent_p.N318N	NM_005972	NP_005963	P50391	NPY4R_HUMAN	Homo sapiens pancreatic polypeptide receptor 1 (PPYR1), mRNA.	318					blood circulation|digestion|feeding behavior	integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCTGCGTCAACCCATTCATCT	0.572													T	47087737	C	T	47087737	2	4	125	1	0	0	0	0	0	0	0	1	12498	506	18	2		2	PPYR1	10	47087737	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	929	47087737	88447010	44	8430											
KIAA0913	23053	broad.mit.edu	37	chr10	75553915	75553915	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcaggtgaagctggCataccaggagtctgaggtgg	8	8	16	9	0	2	2	1	2	1	0	2	3	2	3	2	5	3	2	2	5	2	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:75553915C>G	uc001jvj.3	+	12	2891	c.2636C>G	c.(2635-2637)gCa>gGa	p.A879G	KIAA0913_uc001jve.3_Missense_Mutation_p.A879G|KIAA0913_uc009xrl.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvf.3_Missense_Mutation_p.A879G|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.A302G|KIAA0913_uc010qkr.2_Missense_Mutation_p.A302G	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	879							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					GTGAAGCTGGCATACCAGGAG	0.552													G	75553915	C	G	75553915	3	3	125	1	0	0	0	0	1	0	0	0	8258	710	25	4	2686	4	KIAA0913	10	75553915	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	28466178	75553915	59980832	45	8431											
EBF3	253738	broad.mit.edu	37	chr10	131755521	131755521	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaataaagaagtcatccttaCctgtcaatgattacagggtc	15	11	7	8	0	2	2	2	1	0	1	4	2	3	2	2	1	2	0	2	1	7	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr10:131755521C>G	uc021qav.1	-	6	613	c.512_splice	c.e6+1	p.R171_splice	EBF3_uc001lki.2_Splice_Site_p.R185_splice	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	185					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GTCATCCTTACCTGTCAATGA	0.423													G	131755521	C	G	131755521	5	3	125	1	0	0	0	0	0	0	1	0	4921	521	18	4	1144	4	EBF3	10	131755521	Splice_Site	SNP	C	TCGA-12-5301-01A-01D-1486-08	56201606	131755521	3779226	46	8432											
ZNF215	7762	broad.mit.edu	37	chr11	6977376	6977376	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgggaaagccttctgcCgaagttcatcccttattcga	10	12	9	10	2	2	0	1	0	1	0	4	3	3	1	3	1	2	1	3	1	4	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:6977376C>T	uc001mey.3	+	6	1756	c.1168C>T	c.(1168-1170)Cga>Tga	p.R390*	ZNF215_uc010raw.2_3'UTR|ZNF215_uc010rax.2_Nonsense_Mutation_p.R152*|ZNF215_uc001mez.1_Intron	NM_013250	NP_037382	Q9UL58	ZN215_HUMAN	Homo sapiens zinc finger protein 215 (ZNF215), mRNA.	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		AGCCTTCTGCCGAAGTTCATC	0.393													T	6977376	C	T	6977376	4	4	125	1	0	0	0	0	0	1	0	0	17872	644	23	1	1186	1	ZNF215	11	6977376	Nonsense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		6977376	128029140	47	8433											
OR5P2	120065	broad.mit.edu	37	chr11	7818191	7818191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgactgttgcaaagaaagccGctgaaccaagctggatggca	13	6	12	10	2	0	2	0	1	0	1	0	4	0	3	2	2	4	5	2	2	4	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:7818191G>A	uc001mfp.1	-	0	299	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AAAGAAAGCCGCTGAACCAAG	0.483													A	7818191	G	A	7818191	3	1	125	1	0	0	0	0	1	0	0	0	11254	1087	38	1	673	1	OR5P2	11	7818191	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	840815	7818191	127188325	48	8434											
OR5I1	10798	broad.mit.edu	37	chr11	55703444	55703444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgacaagacaatcaaccGcatacagatgcccctagaca	16	6	7	12	1	1	4	1	1	0	3	1	4	1	4	3	0	3	2	3	0	6	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr11:55703444G>A	uc010ris.2	-	0	433	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R145W(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACAATCAACCGCATACAGATG	0.428													A	55703444	G	A	55703444	3	1	125	1	0	0	0	0	1	0	0	0	11240	1086	38	1	514	1	OR5I1	11	55703444	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	47885253	55703444	79303072	49	8435											
FGD4	121512	broad.mit.edu	37	chr12	32763711	32763711	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttttttcccatttagaAtcacttgaaattatatctac	11	20	2	8	0	3	2	1	1	2	1	4	2	4	2	1	0	1	0	1	0	6	10			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:32763711A>G	uc010ske.2	+	9	1553	c.1469_splice	c.e9-1	p.K490_splice	FGD4_uc001rlc.3_Splice_Site_p.K463_splice|FGD4_uc001rky.3_Splice_Site_p.K130_splice|FGD4_uc001rkz.3_Splice_Site_p.K378_splice|FGD4_uc001rla.3_Splice_Site_p.K34_splice|FGD4_uc001rlb.1_Splice_Site	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	378	PH 1.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CCCATTTAGAATCACTTGAAA	0.343													G	32763711	A	G	32763711	2	3	125	1	0	0	0	0	0	0	0	1	5884	115	4	3		3	FGD4	12	32763711	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08		32763711	101088184	50	8436											
KRT75	9119	broad.mit.edu	37	chr12	52818468	52818468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtagccgctgcccccacCgaggcccaggtttccacctc	6	6	11	18	2	0	0	0	0	0	0	2	2	1	1	7	3	2	3	7	3	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52818468C>T	uc001saj.2	-	8	1511	c.1489G>A	c.(1489-1491)Ggt>Agt	p.G497S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	497	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CTGCCCCCACCGAGGCCCAGG	0.622													T	52818468	C	T	52818468	3	4	125	1	0	0	0	0	1	0	0	0	8546	652	23	1	170	1	KRT75	12	52818468	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	20054757	52818468	81033427	51	8437											
KRT6B	3854	broad.mit.edu	37	chr12	52841572	52841572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttacccacctgcactcctCgccctccagcagcttgcggt	6	9	8	18	2	0	0	0	0	0	0	3	0	2	0	5	1	5	4	5	1	1	2	rs60627726		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:52841572C>T	uc001sak.3	-	6	1462	c.1414G>A	c.(1414-1416)Gag>Aag	p.E472K		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	472	Coil 2.|Rod.		E -> K (in PC2; dbSNP:rs60627726).		ectoderm development	keratin filament	structural constituent of cytoskeleton	p.G471G(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCACTCCTCGCCCTCCAGC	0.597													T	52841572	C	T	52841572	3	4	125	1	0	0	0	0	1	0	0	0	8539	893	31	1	292	1	KRT6B	12	52841572	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	23104	52841572	81010323	52	8438											
ANO4	121601	broad.mit.edu	37	chr12	101295584	101295584	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggcaagctcttctggAatcactaatggaaaaaccaa	16	8	9	8	0	3	0	1	0	2	0	3	3	3	3	1	4	2	2	1	4	6	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:101295584A>G	uc010svm.1	+	1	593	c.21A>G	c.(19-21)ggA>ggG	p.G7G	ANO4_uc010svl.1_Non-coding_Transcript|ANO4_uc001thw.2_Silent_p.G7G|ANO4_uc001thx.2_Silent_p.G7G	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	7						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCTCTTCTGGAATCACTAATG	0.522										HNSCC(74;0.22)			G	101295584	A	G	101295584	2	3	125	1	0	0	0	0	0	0	0	1	699	233	9	3		3	ANO4	12	101295584	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	48454012	101295584	32556311	53	8439											
ACACB	32	broad.mit.edu	37	chr12	109629703	109629703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgcggggccttgaacgtgGccgatgcgatgttcagaacg	8	9	15	9	5	1	2	1	1	0	1	1	4	1	2	2	3	4	1	2	3	3	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:109629703G>A	uc001tob.3	+	14	2466	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ACACB_uc001toc.3_Missense_Mutation_p.A783T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	783					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CTTGAACGTGGCCGATGCGAT	0.532													A	109629703	G	A	109629703	3	1	125	1	0	0	0	0	1	0	0	0	107	1203	42	2	2401	2	ACACB	12	109629703	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	8334119	109629703	24222192	54	8440											
VPS33A	65082	broad.mit.edu	37	chr12	122734578	122734578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctctcttcatcctgatcatCatattggccacttgctggaa	8	15	6	12	0	5	1	3	1	2	0	7	2	6	2	2	2	1	1	2	2	2	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr12:122734578C>G	uc001ucd.3	-	5	728	c.615G>C	c.(613-615)atG>atC	p.M205I	VPS33A_uc001ucc.3_Non-coding_Transcript	NM_022916	NP_075067	Q96AX1	VP33A_HUMAN	Homo sapiens vacuolar protein sorting 33 homolog A (S. cerevisiae) (VPS33A), mRNA.	205					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCCTGATCATCATATTGGCCA	0.383													G	122734578	C	G	122734578	3	3	125	1	0	0	0	0	1	0	0	0	17303	826	29	4	1207	4	VPS33A	12	122734578	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	13104875	122734578	11117317	55	8441											
PARP4	143	broad.mit.edu	37	chr13	25052379	25052379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaggagtctggtgccaTctgtctctcccgggtgtgag	5	11	15	10	1	3	2	0	2	3	0	5	3	4	3	2	3	2	1	2	3	0	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:25052379T>C	uc001upl.3	-	12	1590	c.1484A>G	c.(1483-1485)gAt>gGt	p.D495G	PARP4_uc010tdc.2_Missense_Mutation_p.D495G	NM_006437	NP_006428	Q9UKK3	PARP4_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 4 (PARP4), mRNA.	495	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TCTGGTGCCATCTGTCTCTCC	0.438													C	25052379	T	C	25052379	3	2	125	1	0	0	0	0	1	0	0	0	11539	1435	50	3	3778	3	PARP4	13	25052379	Missense_Mutation	SNP	T	TCGA-12-5301-01A-01D-1486-08		25052379	90117499	56	8442											
NBEA	26960	broad.mit.edu	37	chr13	36124652	36124652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcacggaaaatggatGttcagcgagatacgagctgt	12	9	13	7	3	2	1	2	0	0	1	2	6	2	4	0	3	3	2	0	3	3	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:36124652G>A	uc021rid.1	+	41	7158	c.6624G>A	c.(6622-6624)atG>atA	p.M2208I	NBEA_uc021ric.1_Missense_Mutation_p.M2205I|NBEA_uc010abi.3_Missense_Mutation_p.M864I|NBEA_uc010tee.1_Missense_Mutation_p.M1I|MAB21L1_uc001uvc.3_Intron|NBEA_uc010tef.2_Missense_Mutation_p.M1I|NBEA_uc010teg.1_Missense_Mutation_p.M1I	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	2208						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GAAAATGGATGTTCAGCGAGA	0.363													A	36124652	G	A	36124652	3	1	125	1	0	0	0	0	1	0	0	0	10263	1377	48	2	6790	2	NBEA	13	36124652	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	11072273	36124652	79045226	57	8443											
SLITRK1	114798	broad.mit.edu	37	chr13	84455093	84455093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcagcctgttaccccggaGgtcgaggtgggtgatgggca	6	10	16	9	2	1	1	1	1	0	0	2	3	1	2	3	5	2	2	3	5	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:84455093G>C	uc001vlk.3	-	0	1436	c.550C>G	c.(550-552)Ctc>Gtc	p.L184V		NM_052910	NP_443142	Q96PX8	SLIK1_HUMAN	Homo sapiens SLIT and NTRK-like family, member 1 (SLITRK1), mRNA.	184						integral to membrane		p.D183E(1)		NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		TTACCCCGGAGGTCGAGGTGG	0.532													C	84455093	G	C	84455093	3	2	125	1	0	0	0	0	1	0	0	0	14836	1000	35	4	1544	4	SLITRK1	13	84455093	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	48330441	84455093	30714785	58	8444											
NALCN	259232	broad.mit.edu	37	chr13	101707744	101707744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcaggaagccgcgtcaGtcatggggttcattttgcac	9	9	12	11	3	3	0	3	0	0	0	3	1	3	1	2	3	3	3	2	3	2	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr13:101707744G>A	uc001vox.1	-	43	5309	c.5120C>T	c.(5119-5121)aCt>aTt	p.T1707I		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1707						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGCCGCGTCAGTCATGGGGTT	0.507													A	101707744	G	A	101707744	3	1	125	1	0	0	0	0	1	0	0	0	10224	1029	36	2	100	2	NALCN	13	101707744	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	17252651	101707744	13462134	59	8445											
OR4M1	441670	broad.mit.edu	37	chr14	20248846	20248846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagtgatggcctatgaccGctatgctgctatctgccgac	8	10	10	13	2	1	2	0	2	1	0	1	3	1	2	3	1	3	3	3	1	3	3	rs143164519	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:20248846G>A	uc010tku.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCCTATGACCGCTATGCTGCT	0.502													A	20248846	G	A	20248846	3	1	125	1	0	0	0	0	1	0	0	0	11151	1087	38	1	367	1	OR4M1	14	20248846	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		20248846	87100694	60	8446											
SUPT16H	11198	broad.mit.edu	37	chr14	21826560	21826560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatttttaaaggctgttttCagtttgtgcctcatttctcg	8	19	7	7	1	3	0	2	0	1	0	4	0	3	0	1	1	1	3	1	1	3	7			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:21826560C>T	uc001wao.2	-	19	2667	c.2328G>A	c.(2326-2328)ctG>ctA	p.L776L	SUPT16H_uc001wan.2_Splice_Site	NM_007192	NP_009123	Q9Y5B9	SP16H_HUMAN	Homo sapiens suppressor of Ty 16 homolog (S. cerevisiae) (SUPT16H), mRNA.	776					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGGCTGTTTTCAGTTTGTGCC	0.378													T	21826560	C	T	21826560	2	4	125	1	0	0	0	0	0	0	0	1	15492	813	29	2		2	SUPT16H	14	21826560	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	1577714	21826560	85522980	61	8447											
CTSG	1511	broad.mit.edu	37	chr14	25044566	25044566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggactctggatctgaagataCgccatgtaggggcgggagtg	9	8	17	7	2	2	2	0	1	2	1	2	5	2	5	1	5	1	1	1	5	3	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr14:25044566C>T	uc001wpq.3	-	1	145	c.108G>A	c.(106-108)gcG>gcA	p.A36A		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	36	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TCTGAAGATACGCCATGTAGG	0.572													T	25044566	C	T	25044566	2	4	125	1	0	0	0	0	0	0	0	1	4068	523	19	1		1	CTSG	14	25044566	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	3218006	25044566	82304974	62	8448											
ANPEP	290	broad.mit.edu	37	chr15	90348339	90348339	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatgcctgcttctccacGtagtcgaactcactgacaat	9	12	8	12	2	2	1	1	1	1	0	4	3	2	2	2	1	3	2	2	1	3	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr15:90348339G>C	uc002bop.4	-	3	1159	c.867C>G	c.(865-867)taC>taG	p.Y289*		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	289	Interaction with HCoV-229E.|Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GCTTCTCCACGTAGTCGAACT	0.567													C	90348339	G	C	90348339	4	2	125	1	0	0	0	0	0	1	0	0	710	1140	40	4	2108	4	ANPEP	15	90348339	Nonsense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		90348339	12183053	63	8449											
TPSD1	23430	broad.mit.edu	37	chr16	1306608	1306608	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagcctgagagtccgCggcccatactggatgcactt	8	8	13	12	2	0	2	0	2	0	1	1	4	1	3	3	3	3	1	3	3	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:1306608C>T	uc002clb.1	+	1	183	c.174C>T	c.(172-174)cgC>cgT	p.R58R	TPSD1_uc010brm.1_5'UTR	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	58	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				TGAGAGTCCGCGGCCCATACT	0.697													T	1306608	C	T	1306608	2	4	125	1	0	0	0	0	0	0	0	1	16526	755	27	1		1	TPSD1	16	1306608	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08		1306608	89048145	64	8450											
RBBP6	5930	broad.mit.edu	37	chr16	24552109	24552109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaccaatgcgcagacgaaAgaaggtaagggccgcttggt	13	6	13	9	3	1	2	1	0	0	2	1	3	1	2	2	3	1	3	2	3	4	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr16:24552109A>G	uc002dmh.3	+	0	1202	c.162A>G	c.(160-162)aaA>aaG	p.K54K	RBBP6_uc010vcb.1_Intron|RBBP6_uc002dmg.3_Silent_p.K54K|RBBP6_uc002dmi.3_Silent_p.K54K|RBBP6_uc010bxr.3_Silent_p.K54K|RBBP6_uc021tfl.1_Non-coding_Transcript	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	54	DWNN.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CGCAGACGAAAGAAGGTAAGG	0.517													G	24552109	A	G	24552109	2	3	125	1	0	0	0	0	0	0	0	1	13191	69	3	3		3	RBBP6	16	24552109	Silent	SNP	A	TCGA-12-5301-01A-01D-1486-08	23245501	24552109	65802644	65	8451											
OR1A1	8383	broad.mit.edu	37	chr17	3119210	3119210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttttgggggatgcctaaCgcagatgtatttcatgatag	9	14	11	7	1	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	3	6	rs144175148	byFrequency	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:3119210C>T	uc010vrc.2	+	0	296	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_014565	NP_055380	Q9P1Q5	OR1A1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 1 (OR1A1), mRNA.	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						GGATGCCTAACGCAGATGTAT	0.488													T	3119210	C	T	3119210	3	4	125	1	0	0	0	0	1	0	0	0	11025	536	19	1	298	1	OR1A1	17	3119210	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		3119210	78076000	66	8452											
DNAH2	146754	broad.mit.edu	37	chr17	7679385	7679385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccatgagggtgaccctgcGggaccttctccggaactgcc	7	7	13	14	2	1	2	0	2	1	0	2	5	1	4	5	3	3	0	5	3	1	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:7679385G>A	uc002giu.1	+	29	4879	c.4865G>A	c.(4864-4866)cGg>cAg	p.R1622Q		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	1622	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTGACCCTGCGGGACCTTCTC	0.627													A	7679385	G	A	7679385	3	1	125	1	0	0	0	0	1	0	0	0	4641	1116	39	1	4983	1	DNAH2	17	7679385	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	4560175	7679385	73515825	67	8453											
MYO15A	51168	broad.mit.edu	37	chr17	18047889	18047889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcaccatgcagaagccGtgagcatcttcaagctggta	11	7	11	12	2	2	2	1	1	1	1	2	3	2	2	3	1	5	5	3	1	3	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:18047889G>A	uc021trm.1	+	27	6475	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	MYO15A_uc021trl.1_Missense_Mutation_p.V2084M	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2086	MyTH4 1.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCAGAAGCCGTGAGCATCTT	0.607													A	18047889	G	A	18047889	3	1	125	1	0	0	0	0	1	0	0	0	10139	1145	40	1	6362	1	MYO15A	17	18047889	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	10368504	18047889	63147321	68	8454											
GPR179	440435	broad.mit.edu	37	chr17	36484987	36484987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagactcagcatttcctgccCcatcacgttatcatccagct	9	11	5	16	1	3	1	3	0	0	1	5	1	5	1	4	0	3	3	4	0	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:36484987C>T	uc002hpz.3	-	10	4486	c.4465G>A	c.(4465-4467)Ggg>Agg	p.G1489R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1489						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ATTTCCTGCCCCATCACGTTA	0.512													T	36484987	C	T	36484987	3	4	125	1	0	0	0	0	1	0	0	0	6728	623	22	2	2642	2	GPR179	17	36484987	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08	18437098	36484987	44710223	69	8455											
PGAP3	93210	broad.mit.edu	37	chr17	37844120	37844120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagattggctggcgggagcGgaagtgattcagagcgcccc	8	7	17	9	3	1	3	1	1	0	2	1	5	1	5	2	4	2	2	2	4	2	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:37844120G>A	uc002hsj.3	-	0	191	c.148C>T	c.(148-150)Cgc>Tgc	p.R50C	ERBB2_uc010cwa.3_5'Flank|ERBB2_uc002hsm.3_5'Flank|PGAP3_uc010wej.2_Missense_Mutation_p.R50C|PGAP3_uc002hsk.3_Missense_Mutation_p.R50C|PGAP3_uc010cvz.3_Missense_Mutation_p.R50C|ERBB2_uc002hsl.3_5'Flank	NM_033419	NP_219487	Q96FM1	PGAP3_HUMAN	Homo sapiens post-GPI attachment to proteins 3 (PGAP3), mRNA.	50					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TGGCGGGAGCGGAAGTGATTC	0.657													A	37844120	G	A	37844120	3	1	125	1	0	0	0	0	1	0	0	0	11856	1116	39	1	846	1	PGAP3	17	37844120	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	1359133	37844120	43351090	70	8456											
CLTC	1213	broad.mit.edu	37	chr17	57746279	57746279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaactgctacgatcctgAgcgagtcaagaattttctta	13	11	8	9	2	2	2	1	1	1	1	3	4	3	2	1	0	5	2	1	0	6	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:57746279A>G	uc002ixr.1	+	13	2725	c.2282A>G	c.(2281-2283)gAg>gGg	p.E761G	CLTC_uc002ixp.3_Missense_Mutation_p.E757G|CLTC_uc002ixq.1_Missense_Mutation_p.E757G	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	757	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TACGATCCTGAGCGAGTCAAG	0.398			T	"ALK, TFE3"	"ALCL, renal "								G	57746279	A	G	57746279	3	3	125	1	0	0	0	0	1	0	0	0	3597	304	11	3	2324	3	CLTC	17	57746279	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	19902159	57746279	23448931	71	8457											
GAA	2548	broad.mit.edu	37	chr17	78082609	78082609	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagctgcaccagggcggccgGcgctacatgatgatcgtggt	7	7	16	11	4	0	2	0	2	0	0	1	3	0	2	2	4	3	3	2	4	1	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr17:78082609G>T	uc002jxp.3	+	7	1675	c.1308G>T	c.(1306-1308)cgG>cgT	p.R436R	GAA_uc002jxo.3_Silent_p.R436R|GAA_uc002jxq.3_Silent_p.R436R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	436					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	AGGGCGGCCGGCGCTACATGA	0.642													T	78082609	G	T	78082609	2	4	125	1	0	0	0	0	0	0	0	1	6199	1190	42	4		4	GAA	17	78082609	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	20336330	78082609	3112601	72	8458											
CEP76	79959	broad.mit.edu	37	chr18	12699056	12699056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatggaacaggtttagaacGaaaacgttggtttcgataat	15	11	10	5	3	0	1	0	0	0	1	1	4	0	2	0	3	3	3	0	3	6	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:12699056G>A	uc002kri.3	-	3	598	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	PSMG2_uc002krg.3_Intron|CEP76_uc002krh.3_5'UTR|CEP76_uc010wzz.2_Intron|CEP76_uc010xaa.1_5'UTR|CEP76_uc010xab.1_3'UTR	NM_024899	NP_079175	Q8TAP6	CEP76_HUMAN	Homo sapiens centrosomal protein 76kDa (CEP76), mRNA.	148					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGTTTAGAACGAAAACGTTGG	0.373													A	12699056	G	A	12699056	3	1	125	1	0	0	0	0	1	0	0	0	3291	1058	37	1	1573	1	CEP76	18	12699056	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		12699056	65378192	73	8459											
MC5R	4161	broad.mit.edu	37	chr18	13826367	13826367	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctatgctgttcctcctGgtgtctctgtacatacacat	6	16	7	12	1	1	0	0	0	1	0	5	0	3	0	2	1	3	4	2	1	3	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:13826367G>T	uc010xaf.2	+	0	825	c.603G>T	c.(601-603)ctG>ctT	p.L201L		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	201					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TGTTCCTCCTGGTGTCTCTGT	0.587													T	13826367	G	T	13826367	2	4	125	1	0	0	0	0	0	0	0	1	9442	1335	47	4		4	MC5R	18	13826367	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	1127311	13826367	64250881	74	8460											
POTEC	388468	broad.mit.edu	37	chr18	14542740	14542740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccagatcttctcgacGgacgtggtacctcggctcca	6	11	10	14	4	2	1	0	0	2	1	6	3	4	2	3	3	1	2	3	3	1	3			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:14542740G>A	uc010dln.3	-	0	860	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCTTCTCGACGGACGTGGTAC	0.602													A	14542740	G	A	14542740	3	1	125	1	0	0	0	0	1	0	0	0	12339	1116	39	1	1266	1	POTEC	18	14542740	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	716373	14542740	63534508	75	8461											
ATP8B1	5205	broad.mit.edu	37	chr18	55328473	55328473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggctttcttgtacctcttCaccaggtccaccaccatggc	7	12	7	15	0	3	0	1	0	2	0	4	0	4	0	5	3	1	2	5	3	1	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr18:55328473C>T	uc002lgw.3	-	21	2760	c.2640G>A	c.(2638-2640)gtG>gtA	p.V880V	LOC100505549_uc002lgu.2_Intron|LOC100505549_uc002lgv.1_Intron	NM_005603	NP_005594	O43520	AT8B1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 1 (ATP8B1), mRNA.	880					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				TGTACCTCTTCACCAGGTCCA	0.582													T	55328473	C	T	55328473	2	4	125	1	0	0	0	0	0	0	0	1	1199	813	29	2		2	ATP8B1	18	55328473	Silent	SNP	C	TCGA-12-5301-01A-01D-1486-08	40785733	55328473	22748775	76	8462											
TNFSF9	8744	broad.mit.edu	37	chr19	6535064	6535064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagccggactcccttcacCgaggtcggaataacgtccag	9	6	10	16	4	1	0	1	0	0	0	4	3	3	2	5	3	2	0	5	3	2	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:6535064C>T	uc002mfh.2	+	2	790	c.752C>T	c.(751-753)cCg>cTg	p.P251L		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	251					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						CTCCCTTCACCGAGGTCGGAA	0.637													T	6535064	C	T	6535064	3	4	125	1	0	0	0	0	1	0	0	0	16412	652	23	1	762	1	TNFSF9	19	6535064	Missense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		6535064	52593919	77	8463											
MUC16	94025	broad.mit.edu	37	chr19	9068085	9068085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagggtaccctgtgatgtcGccctatgaggacctgtttgg	7	12	13	9	1	0	2	0	2	0	0	1	3	0	3	3	3	1	2	3	3	3	4			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:9068085G>A	uc002mkp.3	-	2	19565	c.19361C>T	c.(19360-19362)gCg>gTg	p.A6454V		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6456	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A6454V(3)|p.A6454E(3)|p.A2087V(1)|p.A2087E(1)		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						CTGTGATGTCGCCCTATGAGG	0.498													A	9068085	G	A	9068085	3	1	125	1	0	0	0	0	1	0	0	0	10049	1087	38	1	24490	1	MUC16	19	9068085	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	2533021	9068085	50060898	78	8464											
RFX1	5989	broad.mit.edu	37	chr19	14104590	14104591	+	Frame_Shift_Ins	INS	-	-	G																															gctggggctgggcttgtggcINSggggcctgtggcggctggga																										TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:14104590_14104591insG	uc002mxv.3	-	1	337_338	c.65_66insC	c.(64-66)ccgfs	p.P22fs	RFX1_uc010dzi.2_Frame_Shift_Ins_p.P22fs	NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	22					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			gggcttgtggcggggcctgtgg	0.653													G	14104591	-	G	14104590	7	5	125	1	0	1	1	0	0	0	0	0	13350	755	27	0	2953	0	RFX1	19	14104590	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08	5036505	14104590	45024393	79	8465											
SLC25A42	284439	broad.mit.edu	37	chr19	19217127	19217127	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgcactggctggaacgAcagccgcttcactgacctac	8	6	11	16	4	1	1	1	1	0	0	1	3	1	2	3	3	3	3	3	3	2	2	rs145774094	by1000genomes	TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:19217127A>C	uc002nlf.2	+	5	586	c.430A>C	c.(430-432)Aca>Cca	p.T144P	SLC25A42_uc010xqn.1_Missense_Mutation_p.T196P	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	144					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			GGCTGGAACGACAGCCGCTTC	0.642													C	19217127	A	C	19217127	3	2	125	1	0	0	0	0	1	0	0	0	14601	275	10	5	448	5	SLC25A42	19	19217127	Missense_Mutation	SNP	A	TCGA-12-5301-01A-01D-1486-08	5112537	19217127	39911856	80	8466											
MLL2	9757	broad.mit.edu	37	chr19	36219962	36219962	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcactctgcctcaaatacggGgatgcagactccaaggtgag	11	7	12	11	1	2	2	1	1	1	1	3	3	3	3	2	3	3	2	2	3	3	1			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:36219962G>A	uc021usv.1	+	20	4764	c.4764G>A	c.(4762-4764)ggG>ggA	p.G1588G	MLL2_uc021usu.1_Silent_p.G402G	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	5039					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						TCAAATACGGGGATGCAGACT	0.607			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	36219962	G	A	36219962	2	1	125	1	0	0	0	0	0	0	0	1	9696	1219	43	2		2	MLL2	19	36219962	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	17002835	36219962	22909021	81	8467											
NLRP12	91662	broad.mit.edu	37	chr19	54314124	54314124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagatgaggtcttgcatGctgcattccgtggcactctg	7	12	12	10	1	2	3	0	2	2	1	3	3	3	3	1	2	3	4	1	2	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr19:54314124G>A	uc002qcj.4	-	2	1009	c.789C>T	c.(787-789)agC>agT	p.S263S	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.S263S|NLRP12_uc002qci.4_Silent_p.S263S|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.S263S	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	263	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GGTCTTGCATGCTGCATTCCG	0.567													A	54314124	G	A	54314124	2	1	125	1	0	0	0	0	0	0	0	1	10550	1310	46	2		2	NLRP12	19	54314124	Silent	SNP	G	TCGA-12-5301-01A-01D-1486-08	18094162	54314124	4814859	82	8468											
JPH2	57158	broad.mit.edu	37	chr20	42788558	42788558	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttccactcgcccatgtagGtctcggtggtggtggcgtcg	3	12	14	12	4	2	0	0	0	2	0	6	0	3	0	2	5	0	1	2	5	1	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:42788558G>C	uc002xli.1	-	1	1742	c.869C>G	c.(868-870)aCc>aGc	p.T290S		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCATGTAGGTCTCGGTGGT	0.701													C	42788558	G	C	42788558	3	2	125	1	0	0	0	0	1	0	0	0	8019	1261	44	4	1237	4	JPH2	20	42788558	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		42788558	20236962	83	8469											
CDH22	64405	broad.mit.edu	37	chr20	44828064	44828064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggcgcccagctcacccGcctccatggccagcactgtg	5	6	12	18	3	1	0	1	0	0	0	2	0	2	0	5	2	2	2	5	2	0	0			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr20:44828064G>A	uc002xrm.2	-	6	1820	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	CDH22_uc010ghk.1_Missense_Mutation_p.A474V	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	474	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				CAGCTCACCCGCCTCCATGGC	0.667													A	44828064	G	A	44828064	3	1	125	1	0	0	0	0	1	0	0	0	3137	1087	38	1	1085	1	CDH22	20	44828064	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	2039506	44828064	18197456	84	8470											
USP16	10600	broad.mit.edu	37	chr21	30409731	30409731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccttgccaaataaccGtgaaaggactcagtaatttg	13	12	7	9	1	2	1	1	1	1	0	3	2	2	2	3	1	2	1	3	1	4	5			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr21:30409731G>A	uc002ymy.3	+	5	785	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	USP16_uc002ymx.3_Missense_Mutation_p.V194M|USP16_uc002ymw.3_Missense_Mutation_p.V195M|USP16_uc011acm.2_Missense_Mutation_p.V180M|USP16_uc011acn.2_Intron|USP16_uc011aco.2_5'Flank	NM_006447	NP_006438	Q9Y5T5	UBP16_HUMAN	Homo sapiens ubiquitin specific peptidase 16 (USP16), transcript variant 1, mRNA.	195					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						CCAAATAACCGTGAAAGGACT	0.348													A	30409731	G	A	30409731	3	1	125	1	0	0	0	0	1	0	0	0	17149	1145	40	1	601	1	USP16	21	30409731	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08		30409731	17720164	85	8471											
FBLN1	2192	broad.mit.edu	37	chr22	45944523	45944524	+	Frame_Shift_Ins	INS	-	-	CCAC																															tgcgccctgcccaccgggggINSccacatctgctcctaccgct																										TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:45944523_45944524insCCAC	uc010gzz.3	+	13	1733_1734	c.1586_1587insCCAC	c.(1585-1587)ggcfs	p.G529fs	FBLN1_uc003bgg.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgh.3_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgi.1_Frame_Shift_Ins_p.G491fs|FBLN1_uc003bgj.1_Frame_Shift_Ins_p.G491fs	NM_001996	NP_001987	P23142	FBLN1_HUMAN	Homo sapiens fibulin 1 (FBLN1), transcript variant C, mRNA.	491	EGF-like 9; calcium-binding.				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CCCACCGGGGGCCACATCTGCT	0.644													CCAC	45944524	-	CCAC	45944523	7	5	125	1	0	1	1	0	0	0	0	0	5747	1203	42	0	1522	0	FBLN1	22	45944523	Frame_Shift_Ins	INS	-	TCGA-12-5301-01A-01D-1486-08		45944523	5360043	86	8472											
TUBGCP6	85378	broad.mit.edu	37	chr22	50657589	50657589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatagtgcgcctccaggtGcagctccacgaagaagtagt	10	8	11	12	2	1	1	1	0	0	1	3	2	3	1	3	1	3	3	3	1	4	2			TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chr22:50657589G>A	uc003bkb.1	-	19	5046	c.4534C>T	c.(4534-4536)Cac>Tac	p.H1512Y	TUBGCP6_uc003bka.1_Missense_Mutation_p.H599Y|TUBGCP6_uc010har.1_Missense_Mutation_p.H1504Y|TUBGCP6_uc010has.1_Non-coding_Transcript	NM_020461	NP_065194	Q96RT7	GCP6_HUMAN	Homo sapiens tubulin, gamma complex associated protein 6 (TUBGCP6), mRNA.	1512					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCCTCCAGGTGCAGCTCCACG	0.642													A	50657589	G	A	50657589	3	1	125	1	0	0	0	0	1	0	0	0	16872	1319	46	2	949	2	TUBGCP6	22	50657589	Missense_Mutation	SNP	G	TCGA-12-5301-01A-01D-1486-08	4713066	50657589	646977	87	8473											
F9	2158	broad.mit.edu	37	chrX	138643736	138643736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaaagcgaaatgtgattCgaattattcctcaccacaac	16	9	6	10	2	1	1	1	1	0	0	3	3	2	1	2	0	3	1	2	0	6	3	rs137852250		TCGA-12-5301-01A-01D-1486-08	TCGA-12-5301-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	891fc6bc-d0a7-4064-842c-43d500b4ef5d	0961643d-a43d-493f-a3aa-d3dfdef330ed	g.chrX:138643736C>T	uc004fas.1	+	7	921	c.892C>T	c.(892-894)Cga>Tga	p.R298*	F9_uc004fat.1_Nonsense_Mutation_p.R260*	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	298	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AAATGTGATTCGAATTATTCC	0.353													T	138643736	C	T	138643736	4	4	125	1	0	0	0	0	0	1	0	0	5396	876	31	1	922	1	F9	23	138643736	Nonsense_Mutation	SNP	C	TCGA-12-5301-01A-01D-1486-08		138643736	16626824	88	8474											
CYP4A11	1579	broad.mit.edu	37	chr1	47402416	47402416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctggggtcagcatccGtcgatgctggaaccatgtct	8	9	14	10	2	2	0	1	0	1	0	4	3	3	1	2	4	3	3	2	4	2	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:47402416G>A	uc001cqp.4	-	3	481	c.430C>T	c.(430-432)Cgg>Tgg	p.R144W	CYP4A11_uc001cqq.2_Missense_Mutation_p.R144W|CYP4A11_uc010omm.1_Non-coding_Transcript	NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	144					long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	GTCAGCATCCGTCGATGCTGG	0.527													A	47402416	G	A	47402416	3	1	126	1	0	0	0	0	1	0	0	0	4216	1144	40	1	1165	1	CYP4A11	1	47402416	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		47402416	201848205	1	8475											
DOCK7	85440	broad.mit.edu	37	chr1	63001286	63001286	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttggtcttgtacattCgtagaaaatccagaactctg	11	15	7	8	1	3	2	0	0	3	2	5	2	4	2	1	1	2	2	1	1	5	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:63001286C>A	uc001daq.3	-	28	3523	c.3489G>T	c.(3487-3489)acG>acT	p.T1163T	DOCK7_uc001dan.3_Silent_p.T1024T|DOCK7_uc001dao.3_Silent_p.T1024T|DOCK7_uc001dap.3_Silent_p.T1132T|DOCK7_uc001dam.3_Silent_p.T343T|DOCK7_uc010oov.1_5'UTR	NM_033407	NP_212132	Q96N67	DOCK7_HUMAN	Homo sapiens dedicator of cytokinesis 7 (DOCK7), mRNA.	1163					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTTGTACATTCGTAGAAAATC	0.398													A	63001286	C	A	63001286	2	1	126	1	0	0	0	0	0	0	0	1	4731	871	31	4		4	DOCK7	1	63001286	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	15598870	63001286	186249335	2	8476											
VTCN1	79679	broad.mit.edu	37	chr1	117699373	117699373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catttcatcctgctccgacaGctcatctttgccttctttga	6	16	5	14	1	4	1	2	1	2	0	6	2	6	1	3	0	3	2	3	0	0	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:117699373G>A	uc001ehb.3	-	2	373	c.268C>T	c.(268-270)Ctg>Ttg	p.L90L	VTCN1_uc021osn.1_5'UTR|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_5'UTR|VTCN1_uc009whf.2_Intron	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	90	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TGCTCCGACAGCTCATCTTTG	0.458													A	117699373	G	A	117699373	2	1	126	1	0	0	0	0	0	0	0	1	17336	962	34	2		2	VTCN1	1	117699373	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	54698087	117699373	131551248	3	8477											
TXNIP	10628	broad.mit.edu	37	chr1	145440100	145440100	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcctgatgggcgggtGtctgtctctgctcgaattga	5	15	12	9	2	3	2	1	2	2	0	6	3	4	2	1	2	1	1	1	2	1	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:145440100G>A	uc001enn.4	+	3	875	c.534G>A	c.(532-534)gtG>gtA	p.V178V	TXNIP_uc010oys.2_Silent_p.V123V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	178					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding	p.R177L(1)		breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ATGGGCGGGTGTCTGTCTCTG	0.433													A	145440100	G	A	145440100	2	1	126	1	0	0	0	0	0	0	0	1	16905	1364	48	2		2	TXNIP	1	145440100	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	27740727	145440100	103810521	4	8478											
NR1I3	9970	broad.mit.edu	37	chr1	161203002	161203002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatggtgcccatgtggcggGtgtgggcccccaggagtgtc	5	8	17	11	1	0	0	0	0	0	0	1	1	0	1	3	5	1	0	3	5	0	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr1:161203002G>A	uc001fzx.3	-	3	568	c.365C>T	c.(364-366)aCc>aTc	p.T122I	TOMM40L_uc009wuf.2_Intron|NR1I3_uc021pbw.1_Missense_Mutation_p.T122I|NR1I3_uc001fzm.3_Missense_Mutation_p.T47I|NR1I3_uc001fzn.3_Intron|NR1I3_uc001fzf.3_Missense_Mutation_p.T122I|NR1I3_uc009wug.3_Intron|NR1I3_uc001fzo.3_Intron|NR1I3_uc001fzt.3_Intron|NR1I3_uc001fzs.3_Intron|NR1I3_uc001fzr.3_Intron|NR1I3_uc001fzq.3_Intron|NR1I3_uc001fzv.3_Intron|NR1I3_uc001fzu.3_Intron|NR1I3_uc001fzy.3_Missense_Mutation_p.T122I|NR1I3_uc001fzw.3_Missense_Mutation_p.T122I|NR1I3_uc001fzz.3_Missense_Mutation_p.T122I|NR1I3_uc001fzh.3_Missense_Mutation_p.T93I|NR1I3_uc001gab.3_Missense_Mutation_p.T122I|NR1I3_uc001gac.3_Missense_Mutation_p.T93I|NR1I3_uc001fzp.3_Missense_Mutation_p.T122I|NR1I3_uc001fzg.3_Missense_Mutation_p.T93I|NR1I3_uc001gaa.3_Missense_Mutation_p.T122I|NR1I3_uc001fzj.3_Missense_Mutation_p.T93I|NR1I3_uc001fzi.3_Missense_Mutation_p.T93I|NR1I3_uc001fzl.3_Missense_Mutation_p.T93I|NR1I3_uc001fzk.3_Missense_Mutation_p.T93I|NR1I3_uc010pkm.2_Missense_Mutation_p.T93I|NR1I3_uc010pkn.1_Missense_Mutation_p.T122I	NM_001077480	NP_001070948	Q14994	NR1I3_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 3 (NR1I3), transcript variant 2, mRNA.	122					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	androgen receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			CATGTGGCGGGTGTGGGCCCC	0.557													A	161203002	G	A	161203002	3	1	126	1	0	0	0	0	1	0	0	0	10697	1261	44	2	827	2	NR1I3	1	161203002	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	15762902	161203002	88047619	5	8479											
SLC30A3	7781	broad.mit.edu	37	chr2	27481038	27481038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccttacctgaacggtGccagccaaaggtcatggtgc	9	7	14	11	1	1	1	1	1	0	0	1	1	1	1	4	5	5	0	4	5	3	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:27481038G>A	uc002rjk.3	-	2	601	c.415C>T	c.(415-417)Cac>Tac	p.H139Y	SLC30A3_uc002rjj.3_5'UTR|SLC30A3_uc010ylh.2_Missense_Mutation_p.H134Y	NM_003459	NP_003450	Q99726	ZNT3_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 3 (SLC30A3), mRNA.	139					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGAACGGTGCCAGCCAAAG	0.637													A	27481038	G	A	27481038	3	1	126	1	0	0	0	0	1	0	0	0	14650	1319	46	2	775	2	SLC30A3	2	27481038	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		27481038	215718335	6	8480											
IL1A	3552	broad.mit.edu	37	chr2	113537182	113537182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcgtatttgatgatcctCataaagttgtatttcacatt	12	18	5	6	1	2	2	2	2	0	0	4	2	3	2	1	0	0	3	1	0	5	8			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:113537182C>T	uc002tig.3	-	4	1341	c.381G>A	c.(379-381)atG>atA	p.M127I		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	127					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TGATGATCCTCATAAAGTTGT	0.393													T	113537182	C	T	113537182	3	4	126	1	0	0	0	0	1	0	0	0	7708	826	29	2	446	2	IL1A	2	113537182	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	86056144	113537182	129662191	7	8481											
ARMC9	80210	broad.mit.edu	37	chr2	232127073	232127073	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccgttctgcaagcctacAtcagcaatgacctcttggac	11	9	8	13	1	3	2	1	1	2	1	3	3	3	3	3	1	4	3	3	1	3	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr2:232127073A>T	uc002vrq.4	+	11	1193	c.1081A>T	c.(1081-1083)Atc>Ttc	p.I361F	ARMC9_uc002vrp.4_Missense_Mutation_p.I361F|ARMC9_uc002vrr.1_Non-coding_Transcript	NM_025139	NP_079415	Q7Z3E5	ARMC9_HUMAN	Homo sapiens armadillo repeat containing 9 (ARMC9), mRNA.	361							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCAAGCCTACATCAGCAATGA	0.498													T	232127073	A	T	232127073	3	4	126	1	0	0	0	0	1	0	0	0	963	217	8	5	1123	5	ARMC9	2	232127073	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08	118589891	232127073	11072300	8	8482											
RAD54L2	23132	broad.mit.edu	37	chr3	51690165	51690165	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgcaggagtccttgtgCagaaggtggtcaccacgaca	10	7	14	10	2	1	1	1	0	0	1	2	3	2	2	2	3	3	2	2	3	1	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:51690165C>T	uc011bdt.2	+	18	3330	c.3205C>T	c.(3205-3207)Cag>Tag	p.Q1069*	RAD54L2_uc003dbh.3_Nonsense_Mutation_p.Q658*|RAD54L2_uc011bdu.2_Nonsense_Mutation_p.Q763*|RAD54L2_uc003dbj.3_Nonsense_Mutation_p.Q395*	NM_015106	NP_055921	Q9Y4B4	ARIP4_HUMAN	Homo sapiens RAD54-like 2 (S. cerevisiae) (RAD54L2), mRNA.	1069						nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		AGTCCTTGTGCAGAAGGTGGT	0.493													T	51690165	C	T	51690165	4	4	126	1	0	0	0	0	0	1	0	0	13082	711	25	2	3275	2	RAD54L2	3	51690165	Nonsense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		51690165	146332265	9	8483											
DPPA2	151871	broad.mit.edu	37	chr3	109028077	109028077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaagtgtcccgacacacCttattaatgggaggcaaaat	14	8	9	10	2	0	0	0	0	0	0	1	2	1	1	2	2	0	2	2	2	5	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:109028077C>G	uc003dxo.3	-	3	529	c.282G>C	c.(280-282)aaG>aaC	p.K94N		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	94	SAP.					nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCCGACACACCTTATTAATGG	0.443													G	109028077	C	G	109028077	3	3	126	1	0	0	0	0	1	0	0	0	4773	680	24	4	634	4	DPPA2	3	109028077	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	57337912	109028077	88994353	10	8484											
COL6A5	256076	broad.mit.edu	37	chr3	130095557	130095557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgaaggccatggccaCatcccatttccatttcaacc	12	10	5	14	0	2	1	1	1	1	0	4	1	4	1	5	2	1	0	5	2	3	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr3:130095557C>T	uc010htj.1	+	2	1039	c.545C>T	c.(544-546)aCa>aTa	p.T182I	COL6A5_uc010hti.1_Non-coding_Transcript	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	182	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GCCATGGCCACATCCCATTTC	0.473													T	130095557	C	T	130095557	3	4	126	1	0	0	0	0	1	0	0	0	3733	478	17	2	551	2	COL6A5	3	130095557	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	21067480	130095557	67926873	11	8485											
PDGFRA	5156	broad.mit.edu	37	chr4	55133558	55133558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtgaaagacagtggagatTacgaatgtgctgcccgccag	11	7	14	9	3	0	3	0	1	0	2	0	5	0	3	2	2	3	1	2	2	3	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:55133558T>C	uc003han.4	+	5	1193	c.862T>C	c.(862-864)Tac>Cac	p.Y288H	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.Y182H|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	288	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAGTGGAGATTACGAATGTGC	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55133558	T	C	55133558	3	2	126	1	0	0	0	0	1	0	0	0	11737	1754	61	3	880	3	PDGFRA	4	55133558	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		55133558	136020718	12	8486											
RBM46	166863	broad.mit.edu	37	chr4	155720138	155720138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaacttagagattatgcttTtgttcactttttcaaccgag	11	16	7	7	1	2	1	2	0	0	1	2	4	2	1	1	0	3	2	1	0	4	7			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr4:155720138T>C	uc003ioo.3	+	3	997	c.824T>C	c.(823-825)tTt>tCt	p.F275S	RBM46_uc011cim.1_Missense_Mutation_p.F275S|RBM46_uc003iop.1_Missense_Mutation_p.F275S	NM_144979	NP_659416	Q8TBY0	RBM46_HUMAN	Homo sapiens RNA binding motif protein 46 (RBM46), mRNA.	275	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				GATTATGCTTTTGTTCACTTT	0.363													C	155720138	T	C	155720138	3	2	126	1	0	0	0	0	1	0	0	0	13228	1841	64	3	834	3	RBM46	4	155720138	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	100586580	155720138	35434138	13	8487											
LPCAT1	79888	broad.mit.edu	37	chr5	1494825	1494825	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactcacttccccagatCgggatgtctctgctctctgc	5	13	7	16	1	4	1	2	0	3	1	9	2	5	2	2	1	2	1	2	1	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:1494825C>A	uc003jcm.3	-	2	600	c.483G>T	c.(481-483)ccG>ccT	p.P161P		NM_024830	NP_079106	Q8NF37	PCAT1_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 1 (LPCAT1), mRNA.	161					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		TTCCCCAGATCGGGATGTCTC	0.597													A	1494825	C	A	1494825	2	1	126	1	0	0	0	0	0	0	0	1	8980	871	31	4		4	LPCAT1	5	1494825	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08		1494825	179420435	14	8488											
HSPB3	8988	broad.mit.edu	37	chr5	53751847	53751847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcagatcctgctggaCgtggtccagttcctccctga	6	12	9	14	1	1	2	1	1	0	1	5	3	5	3	4	2	1	2	4	2	0	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:53751847C>T	uc003jph.2	+	0	417	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus		p.D76V(1)|p.L75L(1)		breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547													T	53751847	C	T	53751847	2	4	126	1	0	0	0	0	0	0	0	1	7478	535	19	1		1	HSPB3	5	53751847	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	52257022	53751847	127163413	15	8489											
CTNNA1	1495	broad.mit.edu	37	chr5	138221907	138221907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttatccaggctggaCgtaaagaaagaagtgatgca	13	11	10	7	1	0	3	0	1	0	2	2	4	2	4	2	2	1	3	2	2	5	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:138221907C>T	uc003ldh.3	+	7	1164	c.1069C>T	c.(1069-1071)Cgt>Tgt	p.R357C	CTNNA1_uc011cyx.2_Missense_Mutation_p.R254C|CTNNA1_uc011cyy.2_Missense_Mutation_p.R234C|CTNNA1_uc003ldi.3_Missense_Mutation_p.R55C|CTNNA1_uc003ldj.3_Missense_Mutation_p.R357C|CTNNA1_uc003ldl.3_5'UTR	NM_001903	NP_001894	P35221	CTNA1_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 1, 102kDa (CTNNA1), mRNA.	357	Interaction with alpha-actinin.				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CCAGGCTGGACGTAAAGAAAG	0.378													T	138221907	C	T	138221907	3	4	126	1	0	0	0	0	1	0	0	0	4045	536	19	1	1095	1	CTNNA1	5	138221907	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	84470060	138221907	42693353	16	8490											
PCDHGC5	56107	broad.mit.edu	37	chr5	140782734	140782734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtctctagaggtaggaCgcagcttttctctctgaacc	8	12	9	12	2	3	2	0	1	3	1	6	3	3	3	1	2	2	3	1	2	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:140782734C>T	uc003lkh.2	+	0	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.T72M	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	72	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGGTAGGACGCAGCTTTTC	0.622													T	140782734	C	T	140782734	3	4	126	1	0	0	0	0	1	0	0	0	11647	536	19	1		1	PCDHGC5	5	140782734	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	2560827	140782734	40132526	17	8491											
BTNL8	79908	broad.mit.edu	37	chr5	180377067	180377067	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaagcagggaaacattaCtgggaggtggacggaggaca	13	6	15	7	1	0	0	0	0	0	0	1	5	1	5	1	6	3	1	1	6	3	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr5:180377067C>T	uc003mmp.3	+	7	1260	c.1026C>T	c.(1024-1026)taC>taT	p.Y342Y	BTNL8_uc003mmq.3_3'UTR|BTNL8_uc010jll.3_3'UTR|BTNL8_uc011dhg.2_Silent_p.Y217Y|BTNL8_uc010jlm.3_Silent_p.Y226Y|BTNL8_uc011dhh.2_Silent_p.Y158Y	NM_001040462	NP_001153182	Q6UX41	BTNL8_HUMAN	Homo sapiens butyrophilin-like 8 (BTNL8), transcript variant 2, mRNA.	342	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAACATTACTGGGAGGTGG	0.522													T	180377067	C	T	180377067	2	4	126	1	0	0	0	0	0	0	0	1	1577	576	20	2		2	BTNL8	5	180377067	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	39594333	180377067	538193	18	8492											
KIF13A	63971	broad.mit.edu	37	chr6	17772259	17772259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgctttaaaagggctgacGgttaaggcatgaggagtctc	12	10	13	6	1	1	2	0	2	1	0	2	3	1	3	0	4	1	4	0	4	4	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:17772259G>A	uc003ncg.4	-	36	4516	c.4356C>T	c.(4354-4356)acC>acT	p.T1452T	KIF13A_uc003ncf.3_Silent_p.T1439T|KIF13A_uc003nch.4_Silent_p.T1452T|KIF13A_uc003nci.4_Silent_p.T1439T|KIF13A_uc003nce.2_Silent_p.T38T	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1452					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AAGGGCTGACGGTTAAGGCAT	0.433													A	17772259	G	A	17772259	2	1	126	1	0	0	0	0	0	0	0	1	8332	1103	39	1		1	KIF13A	6	17772259	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		17772259	153342808	19	8493											
DAXX	1616	broad.mit.edu	37	chr6	33289539	33289539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagcttgtagcatttcttgCcgcccgaactactgcttcct	6	13	7	15	2	1	0	0	0	1	0	2	1	2	0	4	0	6	4	4	0	3	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:33289539C>T	uc003oec.3	-	1	368	c.164G>A	c.(163-165)gGc>gAc	p.G55D	DAXX_uc021ywn.1_Missense_Mutation_p.G55D|DAXX_uc021ywo.1_Missense_Mutation_p.G55D|DAXX_uc011dre.2_Missense_Mutation_p.G67D|DAXX_uc003oed.3_Missense_Mutation_p.G55D|DAXX_uc011drd.2_Intron|DAXX_uc010juw.2_5'UTR	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	55	Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GCATTTCTTGCCGCCCGAACT	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								T	33289539	C	T	33289539	3	4	126	1	0	0	0	0	1	0	0	0	4277	739	26	2	2086	2	DAXX	6	33289539	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	15517280	33289539	137825528	20	8494											
KPNA5	3841	broad.mit.edu	37	chr6	117023258	117023258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgattgaaactggggCtgttccgatttttatcaaac	10	14	11	6	1	1	2	1	2	0	0	2	3	2	2	1	3	2	3	1	3	4	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:117023258C>G	uc003pxh.3	+	5	643	c.512C>G	c.(511-513)gCt>gGt	p.A171G		NM_002269	NP_002260	O15131	IMA5_HUMAN	Homo sapiens karyopherin alpha 5 (importin alpha 6) (KPNA5), mRNA.	168	NLS binding site (major) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		GAAACTGGGGCTGTTCCGATT	0.338													G	117023258	C	G	117023258	3	3	126	1	0	0	0	0	1	0	0	0	8491	797	28	4	534	4	KPNA5	6	117023258	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	83733719	117023258	54091809	21	8495											
UTRN	7402	broad.mit.edu	37	chr6	144757266	144757266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcaaagaccagtttgcaAcccatgaagtaaatatctgt	16	10	7	8	0	2	2	1	1	1	1	2	2	2	2	2	0	2	3	2	0	7	3	rs150684617		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr6:144757266A>T	uc003qkt.3	+	8	1143	c.1051A>T	c.(1051-1053)Acc>Tcc	p.T351S	UTRN_uc010khq.1_Missense_Mutation_p.T351S	NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	351	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CCAGTTTGCAACCCATGAAGT	0.453													T	144757266	A	T	144757266	3	4	126	1	0	0	0	0	1	0	0	0	17205	43	2	5	1085	5	UTRN	6	144757266	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08	27734008	144757266	26357801	22	8496											
DMTF1	9988	broad.mit.edu	37	chr7	86811558	86811558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggctccggataaagcAtggcaatgactgggcaacaa	13	9	11	8	1	0	1	0	1	0	0	1	2	1	2	1	4	2	4	1	4	6	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:86811558A>G	uc003uih.3	+	9	1051	c.725A>G	c.(724-726)cAt>cGt	p.H242R	DMTF1_uc003uii.3_5'UTR|DMTF1_uc003uij.3_5'UTR|DMTF1_uc011khb.2_Missense_Mutation_p.H154R|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Missense_Mutation_p.H242R|DMTF1_uc003uin.3_5'UTR	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	242	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 1.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					CGGATAAAGCATGGCAATGAC	0.433													G	86811558	A	G	86811558	3	3	126	1	0	0	0	0	1	0	0	0	4631	217	8	3	755	3	DMTF1	7	86811558	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08		86811558	72327105	23	8497											
TRPV5	56302	broad.mit.edu	37	chr7	142605705	142605705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtagacctcctctccaTccccctcactaaggttcagt	9	11	6	15	0	3	1	2	0	1	1	6	1	5	1	5	2	0	2	5	2	3	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr7:142605705T>C	uc003wby.1	-	14	2429	c.2165A>G	c.(2164-2166)gAt>gGt	p.D722G		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	722	Involved in Ca(2+)-dependent inactivation (By similarity).				protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CTCCTCTCCATCCCCCTCACT	0.567													C	142605705	T	C	142605705	3	2	126	1	0	0	0	0	1	0	0	0	16700	1435	50	3	28	3	TRPV5	7	142605705	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	55794147	142605705	16532958	24	8498											
PTK2B	2185	broad.mit.edu	37	chr8	27296903	27296903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacgacagccagtgacGtctggatgttcggtgagtgc	7	10	14	10	3	2	2	1	2	1	0	3	4	2	3	1	2	2	2	1	2	0	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:27296903G>A	uc003xfn.2	+	24	2630	c.1822G>A	c.(1822-1824)Gtc>Atc	p.V608I	PTK2B_uc022ate.1_Missense_Mutation_p.V608I|PTK2B_uc003xfp.2_Missense_Mutation_p.V608I|PTK2B_uc003xfq.2_Missense_Mutation_p.V608I|PTK2B_uc003xfr.1_Missense_Mutation_p.V354I	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	608	Protein kinase.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGCCAGTGACGTCTGGATGTT	0.547													A	27296903	G	A	27296903	3	1	126	1	0	0	0	0	1	0	0	0	12849	1145	40	1	1896	1	PTK2B	8	27296903	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		27296903	119067119	25	8499											
GEM	2669	broad.mit.edu	37	chr8	95264452	95264452	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccattcattttccccCtaatgaaacaataagatctt	13	13	5	10	0	2	2	1	1	1	1	3	3	3	3	3	1	2	0	3	1	4	6			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:95264452C>T	uc003ygi.3	-	4	533	c.409_splice	c.e4-1	p.G137_splice	GEM_uc003ygj.3_Splice_Site_p.G137_splice	NM_181702	NP_859053	P55040	GEM_HUMAN	Homo sapiens GTP binding protein overexpressed in skeletal muscle (GEM), transcript variant 2, mRNA.	137					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTTTCCCCCTAATGAAACA	0.453													T	95264452	C	T	95264452	5	4	126	1	0	0	0	0	0	0	1	0	6385	695	24	2	490	2	GEM	8	95264452	Splice_Site	SNP	C	TCGA-14-0740-01B-01D-1845-08	67967549	95264452	51099570	26	8500											
ZFAT	57623	broad.mit.edu	37	chr8	135613849	135613849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaccggtgctcaggggCagctttgcaagagtcaggct	7	8	15	11	1	2	2	2	1	0	1	2	2	2	2	2	4	3	5	2	4	1	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr8:135613849C>T	uc003yup.3	-	5	2299	c.2113G>A	c.(2113-2115)Gcc>Acc	p.A705T	ZFAT_uc003yun.3_Missense_Mutation_p.A693T|ZFAT_uc003yuo.3_Missense_Mutation_p.A693T|ZFAT_uc010meh.3_Missense_Mutation_p.A693T|ZFAT_uc010mej.3_Missense_Mutation_p.A643T|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Missense_Mutation_p.A693T|ZFAT_uc003yur.3_Missense_Mutation_p.A693T	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	705					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			TGCTCAGGGGCAGCTTTGCAA	0.557													T	135613849	C	T	135613849	3	4	126	1	0	0	0	0	1	0	0	0	17733	710	25	2	1662	2	ZFAT	8	135613849	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	40349397	135613849	10750173	27	8501											
DOCK8	81704	broad.mit.edu	37	chr9	439344	439344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtacttcaccgagagtGgcctggtaggcctcctggag	7	8	14	12	1	1	1	1	0	0	1	2	3	2	2	5	4	1	2	5	4	2	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:439344G>A	uc003zgf.2	+	39	5291	c.5179G>A	c.(5179-5181)Ggc>Agc	p.G1727S	DOCK8_uc022bcu.1_Missense_Mutation_p.G1659S|DOCK8_uc010mgv.3_Missense_Mutation_p.G1627S|DOCK8_uc010mgu.3_Missense_Mutation_p.G1029S|DOCK8_uc003zgk.2_Missense_Mutation_p.G1185S	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1727	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.Y1726H(1)|p.Y1726F(1)		breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CACCGAGAGTGGCCTGGTAGG	0.622													A	439344	G	A	439344	3	1	126	1	0	0	0	0	1	0	0	0	4732	1348	47	2	5337	2	DOCK8	9	439344	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		439344	140774087	28	8502											
COL15A1	1306	broad.mit.edu	37	chr9	101788194	101788194	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttccccagggccctgaGggacagcctggagttgatgg	7	8	16	10	0	0	2	0	2	0	0	1	5	1	4	4	4	1	2	4	4	0	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:101788194G>A	uc004azb.1	+	15	2195	c.1989G>A	c.(1987-1989)gaG>gaA	p.E663E		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	663	Triple-helical region 2 (COL2).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	p.E663D(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGGCCCTGAGGGACAGCCTG	0.582													A	101788194	G	A	101788194	2	1	126	1	0	0	0	0	0	0	0	1	3703	991	35	2		2	COL15A1	9	101788194	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	101348850	101788194	39425237	29	8503											
ABCA1	19	broad.mit.edu	37	chr9	107555100	107555100	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgatttctaagatgtcattCtggcctccaccatcaagaat	11	14	6	10	0	4	3	2	1	2	2	5	3	5	3	3	1	0	0	3	1	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:107555100C>G	uc004bcl.3	-	41	6128	c.5724G>C	c.(5722-5724)caG>caC	p.Q1908H		NM_005502	NP_005493	O95477	ABCA1_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 1 (ABCA1), mRNA.	1908					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGATGTCATTCTGGCCTCCAC	0.423													G	107555100	C	G	107555100	3	3	126	1	0	0	0	0	1	0	0	0	28	912	32	4	1097	4	ABCA1	9	107555100	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	5766906	107555100	33658331	30	8504											
RALGDS	26301	broad.mit.edu	37	chr9	136031442	136031442	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccctcttgtagtgcaGcttcatgttgctggtggcag	4	15	11	11	0	3	0	1	0	2	0	4	0	3	0	1	2	3	6	1	2	1	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr9:136031442G>T	uc011mcw.2	-	3	466	c.185C>A	c.(184-186)gCt>gAt	p.A62D	RALGDS_uc010nab.3_Missense_Mutation_p.L50M|RALGDS_uc011mcx.2_Intron|RALGDS_uc004ccw.3_Missense_Mutation_p.L50M|RALGDS_uc010nac.1_5'UTR|RALGDS_uc004ccy.1_Missense_Mutation_p.L50M	NM_001042368	NP_001035827	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 2, mRNA.	0					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTGTAGTGCAGCTTCATGTTG	0.567			T	CIITA	"PMBL, Hodgkin Lymphona, "								T	136031442	G	T	136031442	3	4	126	1	0	0	0	0	1	0	0	0	13104	962	34	4		4	RALGDS	9	136031442	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	28476342	136031442	5181989	31	8505											
CYP2C19	1562	broad.mit.edu	37	chr10	96443660	96443660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagagctctggaagagggagGctcccgtctggccccactcc	7	6	13	15	1	2	2	0	0	2	2	4	4	4	4	4	4	1	2	4	4	1	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96443660G>A	uc001kjv.4	+	0	410	c.84G>A	c.(82-84)agG>agA	p.R28R	CYP2C19_uc001kjw.4_Silent_p.R28R	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	28					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAGAGGGAGGCTCCCGTCTG	0.483													A	96443660	G	A	96443660	2	1	126	1	0	0	0	0	0	0	0	1	4199	1194	42	2		2	CYP2C19	10	96443660	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		96443660	39091087	32	8506											
CYP2C19	1557	broad.mit.edu	37	chr10	96612523	96612523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggagagggcctggcccGcatggagctgtttttattcc	5	12	15	9	1	0	1	0	0	0	1	1	3	1	2	3	4	1	3	3	4	1	4	rs138112316		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:96612523G>A	uc010qnz.2	+	8	1325	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	CYP2C19_uc010qny.2_Missense_Mutation_p.R420H	NM_000769	NP_000760	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 19 (CYP2C19), mRNA.	442			R -> C (in allele CYP2C19*16; lowered catalytic activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity	p.R442H(4)|p.R442L(2)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GGCCTGGCCCGCATGGAGCTG	0.433													A	96612523	G	A	96612523	3	1	126	1	0	0	0	0	1	0	0	0	4199	1087	38	1	1359	1	CYP2C19	10	96612523	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	168863	96612523	38922224	33	8507											
BTBD16	118663	broad.mit.edu	37	chr10	124066797	124066797	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaggcaattccgacttaTgaaaccgtgatgacattttt	12	14	7	8	2	1	3	1	3	0	0	2	4	2	3	2	1	1	1	2	1	3	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr10:124066797T>A	uc001lgc.1	+	9	1136	c.885T>A	c.(883-885)taT>taA	p.Y295*	BTBD16_uc001lgd.1_Nonsense_Mutation_p.Y294*	NM_144587	NP_653188	Q32M84	BTBDG_HUMAN	Homo sapiens BTB (POZ) domain containing 16 (BTBD16), mRNA.	295										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				TTCCGACTTATGAAACCGTGA	0.353													A	124066797	T	A	124066797	4	1	126	1	0	0	0	0	0	1	0	0	1550	1471	51	5	919	5	BTBD16	10	124066797	Nonsense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	27454274	124066797	11467950	34	8508											
OR4C46	119749	broad.mit.edu	37	chr11	51515606	51515606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatttcttcggaggtgcaGagggcatcctacttactgtg	9	12	11	9	1	1	1	0	0	1	1	3	2	2	2	1	3	4	2	1	3	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr11:51515606G>A	uc010ric.2	+	0	325	c.325G>A	c.(325-327)Gag>Aag	p.E109K		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CGGAGGTGCAGAGGGCATCCT	0.473													A	51515606	G	A	51515606	3	1	126	1	0	0	0	0	1	0	0	0	11127	943	33	2	327	2	OR4C46	11	51515606	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		51515606	83490910	35	8509											
CPSF6	11052	broad.mit.edu	37	chr12	69652697	69652697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacactagctcctcctcCgcatcttcctggaccacctc	6	11	4	20	1	1	0	0	0	1	0	6	1	5	1	7	1	2	2	7	1	2	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:69652697C>T	uc001sut.4	+	5	1132	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	CPSF6_uc001suu.4_Missense_Mutation_p.P378L|CPSF6_uc010stk.2_5'UTR	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	341	Pro-rich.				mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	p.P341P(1)		endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			GCTCCTCCTCCGCATCTTCCT	0.617													T	69652697	C	T	69652697	3	4	126	1	0	0	0	0	1	0	0	0	3860	652	23	1	1044	1	CPSF6	12	69652697	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		69652697	64199198	36	8510											
SLC6A15	55117	broad.mit.edu	37	chr12	85255645	85255645	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttataggtcacagaTgctaaattaccagaactatc	13	12	5	11	0	2	2	1	0	1	2	4	2	2	2	2	1	3	1	2	1	7	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:85255645T>A	uc001szv.3	-	11	2452	c.1959A>T	c.(1957-1959)gcA>gcT	p.A653A	SLC6A15_uc010sul.2_Silent_p.A546A	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	653					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						AGGTCACAGATGCTAAATTAC	0.438													A	85255645	T	A	85255645	2	1	126	1	0	0	0	0	0	0	0	1	14772	1451	51	5		5	SLC6A15	12	85255645	Silent	SNP	T	TCGA-14-0740-01B-01D-1845-08	15602948	85255645	48596250	37	8511											
ARL1	400	broad.mit.edu	37	chr12	101794864	101794864	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatggcaactaactctgaTttggaaatgccaattcggtc	13	11	8	9	1	1	1	0	1	1	0	3	2	1	2	1	3	4	1	1	3	5	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr12:101794864T>A	uc001tib.3	-	3	461	c.312A>T	c.(310-312)aaA>aaT	p.K104N	ARL1_uc010svn.2_Missense_Mutation_p.K58N|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	104					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding			central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		CTAACTCTGATTTGGAAATGC	0.348													A	101794864	T	A	101794864	3	1	126	1	0	0	0	0	1	0	0	0	928	1490	52	5	245	5	ARL1	12	101794864	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08	16539219	101794864	32057031	38	8512											
CDX2	1045	broad.mit.edu	37	chr13	28537311	28537311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaaccccagggacagAgccaggcactgaggcttgca	11	3	12	15	0	0	3	0	1	0	2	0	4	0	4	5	3	3	3	5	3	1	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr13:28537311A>G	uc001urv.3	-	2	1057	c.883T>C	c.(883-885)Tct>Cct	p.S295P		NM_001265	NP_001256	Q99626	CDX2_HUMAN	Homo sapiens caudal type homeobox 2 (CDX2), mRNA.	295					organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		CCAGGGACAGAGCCAGGCACT	0.657			T	ETV6	AML								G	28537311	A	G	28537311	3	3	126	1	0	0	0	0	1	0	0	0	3213	304	11	3	62	3	CDX2	13	28537311	Missense_Mutation	SNP	A	TCGA-14-0740-01B-01D-1845-08		28537311	86632567	39	8513											
TEP1	7011	broad.mit.edu	37	chr14	20841727	20841727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggttaccaccagaagctctGacccaggctgtccagctgat	9	8	10	14	1	1	3	0	2	1	1	2	3	2	3	4	2	3	4	4	2	2	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:20841727G>A	uc001vxe.3	-	45	6660	c.6620C>T	c.(6619-6621)tCa>tTa	p.S2207L	TEP1_uc010ahj.1_5'Flank|TEP1_uc010ahk.3_Missense_Mutation_p.S1550L|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.S2099L|TEP1_uc010tlh.1_Missense_Mutation_p.S545L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	2207					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAAGCTCTGACCCAGGCTG	0.577													A	20841727	G	A	20841727	3	1	126	1	0	0	0	0	1	0	0	0	15859	1294	45	2	1303	2	TEP1	14	20841727	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08		20841727	86507813	40	8514											
BCL11B	64919	broad.mit.edu	37	chr14	99642350	99642351	+	Frame_Shift_Ins	INS	-	-	CA																															ttcatgagcggggactgcgcINScacggcctccggcccgagcg																										TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr14:99642350_99642351insCA	uc001yga.3	-	3	1089_1090	c.822_823insTG	c.(820-825)gtggcgfs	p.V274fs	BCL11B_uc001ygb.3_Frame_Shift_Ins_p.V203fs	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	274						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGGACTGCGCCACGGCCTCCG	0.718			T	TLX3	T-ALL								CA	99642351	-	CA	99642350	7	5	126	1	0	1	1	0	0	0	0	0	1369	739	26	0	1865	0	BCL11B	14	99642350	Frame_Shift_Ins	INS	-	TCGA-14-0740-01B-01D-1845-08	78800623	99642350	7707190	41	8515											
CASC5	57082	broad.mit.edu	37	chr15	40911168	40911168	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaaatagggatgaacacaTtgctttctgctcccattcat	11	14	6	10	0	3	1	1	1	2	0	4	2	4	2	1	1	3	2	1	1	4	5			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:40911168T>G	uc010bbs.1	+	9	573	c.412T>G	c.(412-414)Ttg>Gtg	p.L138V	CASC5_uc010ucq.1_Intron|CASC5_uc001zme.3_Missense_Mutation_p.L112V|CASC5_uc010bbt.1_Missense_Mutation_p.L112V	NM_170589	NP_733468	Q8NG31	CASC5_HUMAN	Homo sapiens cancer susceptibility candidate 5 (CASC5), transcript variant 1, mRNA.	138	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GATGAACACATTGCTTTCTGC	0.333													G	40911168	T	G	40911168	3	3	126	1	0	0	0	0	1	0	0	0	2689	1490	52	5	446	5	CASC5	15	40911168	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		40911168	61620224	42	8516											
FES	2242	broad.mit.edu	37	chr15	91438682	91438682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagagctgtgtcctgatgCcgtgttcaggctcatggagc	6	10	13	12	1	2	2	2	1	0	1	3	3	3	3	3	2	3	3	3	2	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:91438682C>T	uc002bpv.3	+	18	2482	c.2363C>T	c.(2362-2364)gCc>gTc	p.A788V	FES_uc010uqj.2_Missense_Mutation_p.A660V|FES_uc010uqk.2_Missense_Mutation_p.A770V|FES_uc002bpx.3_Missense_Mutation_p.A718V|FES_uc002bpy.3_Missense_Mutation_p.A730V|FES_uc010bny.3_Missense_Mutation_p.A647V	NM_002005	NP_001996	P07332	FES_HUMAN	Homo sapiens feline sarcoma oncogene (FES), transcript variant 1, mRNA.	788	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGTCCTGATGCCGTGTTCAGG	0.632													T	91438682	C	T	91438682	3	4	126	1	0	0	0	0	1	0	0	0	5869	739	26	2	2433	2	FES	15	91438682	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	50527514	91438682	11092710	43	8517											
ADAMTS17	170691	broad.mit.edu	37	chr15	100537641	100537641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagtcctggccttcacaGctctgcactgccgccggccg	5	7	12	17	3	2	0	1	0	1	0	3	0	3	0	5	3	3	3	5	3	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr15:100537641G>A	uc002bvv.1	-	18	2824	c.2745C>T	c.(2743-2745)agC>agT	p.S915S		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	915	TSP type-1 3.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGCCTTCACAGCTCTGCACTg	0.677													A	100537641	G	A	100537641	2	1	126	1	0	0	0	0	0	0	0	1	262	962	34	2		2	ADAMTS17	15	100537641	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	9098959	100537641	1993751	44	8518											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251946	25251946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgcgatatttgctggggtCggtactctgggaaacaactc	8	13	12	8	2	1	0	0	0	1	0	3	2	1	1	0	4	5	2	0	4	4	4	rs148950715	byFrequency	TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr16:25251946C>T	uc002dod.4	-	6	2502	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	ZKSCAN2_uc010vcl.2_Missense_Mutation_p.D495N	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	699					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGCTGGGGTCGGTACTCTGG	0.418													T	25251946	C	T	25251946	3	4	126	1	0	0	0	0	1	0	0	0	17788	884	31	1	812	1	ZKSCAN2	16	25251946	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		25251946	65102807	45	8519											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	126	1	0	0	0	0	1	0	0	0	16482	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		7577548	73617662	46	8520											
PIRT	644139	broad.mit.edu	37	chr17	10728644	10728644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcacccacaccagccCgcacaccagcatcatgagtc	11	4	9	17	1	1	1	1	1	0	0	2	2	1	1	4	1	2	3	4	1	0	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:10728644C>T	uc010col.3	-	1	614	c.319G>A	c.(319-321)Ggg>Agg	p.G107R	PIRT_uc021tqe.1_Missense_Mutation_p.G107R	NM_001101387	NP_001094857	P0C851	PIRT_HUMAN	Homo sapiens phosphoinositide-interacting regulator of transient receptor potential channels (PIRT), mRNA.	107						integral to membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8						CACACCAGCCCGCACACCAGC	0.527													T	10728644	C	T	10728644	3	4	126	1	0	0	0	0	1	0	0	0	12022	652	23	1	98	1	PIRT	17	10728644	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	3151096	10728644	70466566	47	8521											
CCL3	6348	broad.mit.edu	37	chr17	34416597	34416597	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaaattctgtggaatctgCcgggaggtgtagctgaagca	11	10	14	6	1	2	2	0	2	2	0	2	4	2	4	1	3	3	3	1	3	4	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:34416597C>T	uc002hkv.3	-	1	222	c.120G>A	c.(118-120)cgG>cgA	p.R40R		NM_002983	NP_002974	P10147	CCL3_HUMAN	Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.	40		Involved in GAG binding.			cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTGGAATCTGCCGGGAGGTGT	0.542													T	34416597	C	T	34416597	2	4	126	1	0	0	0	0	0	0	0	1	2929	726	26	2		2	CCL3	17	34416597	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	23687953	34416597	46778613	48	8522											
KIF18B	146909	broad.mit.edu	37	chr17	43004364	43004364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaacctcacctcgcaaCgcgcttcttcttgcaggcag	8	9	7	17	3	3	0	1	0	2	0	5	0	4	0	3	1	3	4	3	1	2	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr17:43004364C>T	uc010wji.2	-	13	2469	c.2368G>A	c.(2368-2370)Gtt>Att	p.V790I	KIF18B_uc002iht.3_Missense_Mutation_p.V799I|KIF18B_uc010wjh.2_Missense_Mutation_p.V787I	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.									p.V799I(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				CACCTCGCAACGCGCTTCTTC	0.637													T	43004364	C	T	43004364	3	4	126	1	0	0	0	0	1	0	0	0	8339	536	19	1	210	1	KIF18B	17	43004364	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	8587767	43004364	38190846	49	8523											
MUC16	94025	broad.mit.edu	37	chr19	9077406	9077406	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccagtagagccatgcCacatagagaattccattcca	12	9	6	14	0	0	2	0	0	0	2	4	3	4	2	6	0	2	1	6	0	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:9077406C>T	uc002mkp.3	-	2	10244	c.10040G>A	c.(10039-10041)tGg>tAg	p.W3347*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	3348	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						AGAGCCATGCCACATAGAGAA	0.502													T	9077406	C	T	9077406	4	4	126	1	0	0	0	0	0	1	0	0	10049	595	21	2	33811	2	MUC16	19	9077406	Nonsense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08		9077406	50051577	50	8524											
C19orf54	284325	broad.mit.edu	37	chr19	41250512	41250512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctttccgtggccacccGtatgagtctctccaggggga	5	10	12	14	2	2	1	0	1	2	0	5	2	4	2	5	3	0	1	5	3	1	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:41250512G>A	uc002oou.1	-	2	589	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	C19orf54_uc002oow.1_Missense_Mutation_p.T26M|C19orf54_uc002oox.1_Non-coding_Transcript|C19orf54_uc002ooy.1_Missense_Mutation_p.R19W|C19orf54_uc010xvs.1_Non-coding_Transcript	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	157										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GTGGCCACCCGTATGAGTCTC	0.627													A	41250512	G	A	41250512	3	1	126	1	0	0	0	0	1	0	0	0	1955	1144	40	1	602	1	C19orf54	19	41250512	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	32173106	41250512	17878471	51	8525											
CEACAM5	1048	broad.mit.edu	37	chr19	42213611	42213611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcctagcctcacttctaaCcttctggaacccgcccacca	8	10	4	19	1	4	0	1	0	3	0	5	1	4	1	6	1	3	0	6	1	3	4			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:42213611C>A	uc002orl.3	+	1	198	c.77C>A	c.(76-78)aCc>aAc	p.T26N	CEACAM5_uc010ehz.1_Missense_Mutation_p.T26N|CEACAM5_uc002orj.1_Missense_Mutation_p.T26N	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	26						anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TCACTTCTAACCTTCTGGAAC	0.537													A	42213611	C	A	42213611	3	1	126	1	0	0	0	0	1	0	0	0	3225	507	18	4	83	4	CEACAM5	19	42213611	Missense_Mutation	SNP	C	TCGA-14-0740-01B-01D-1845-08	963099	42213611	16915372	52	8526											
NLRP12	91662	broad.mit.edu	37	chr19	54312882	54312882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgcggagcacctcgcGcggtcttccccgtccgcgct	2	8	12	19	7	1	0	0	0	1	0	5	1	4	1	5	2	2	3	5	2	0	1			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr19:54312882G>A	uc002qcj.4	-	2	2251	c.2031C>T	c.(2029-2031)cgC>cgT	p.R677R	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.R677R|NLRP12_uc002qci.4_Silent_p.R677R|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.R677R	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	677					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		AGCACCTCGCGCGGTCTTCCC	0.587													A	54312882	G	A	54312882	2	1	126	1	0	0	0	0	0	0	0	1	10550	1074	38	1		1	NLRP12	19	54312882	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08	12099271	54312882	4816101	53	8527											
BCAS1	8537	broad.mit.edu	37	chr20	52570143	52570143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctcggctgctgacttcTtgtccttcgaggagccctct	4	14	9	14	2	4	1	1	1	3	0	7	3	5	2	2	2	2	2	2	2	0	3			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chr20:52570143T>C	uc002xws.2	-	10	1846	c.1508A>G	c.(1507-1509)aAg>aGg	p.K503R	BCAS1_uc010zza.1_Missense_Mutation_p.K169R|BCAS1_uc010zzb.1_Missense_Mutation_p.K429R|BCAS1_uc010gim.2_Missense_Mutation_p.K359R|BCAS1_uc002xwt.2_Missense_Mutation_p.K489R|BCAS1_uc010gil.1_Missense_Mutation_p.K425R	NM_003657	NP_003648	O75363	BCAS1_HUMAN	Homo sapiens breast carcinoma amplified sequence 1 (BCAS1), mRNA.	503						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TGCTGACTTCTTGTCCTTCGA	0.537													C	52570143	T	C	52570143	3	2	126	1	0	0	0	0	1	0	0	0	1355	1609	56	3	254	3	BCAS1	20	52570143	Missense_Mutation	SNP	T	TCGA-14-0740-01B-01D-1845-08		52570143	10455377	54	8528											
GRPR	2925	broad.mit.edu	37	chrX	16142166	16142166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagtgcggatctccccgtGaacgatgactggtcccaccc	8	7	10	16	3	1	2	0	2	1	0	3	4	2	3	4	2	2	0	4	2	1	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:16142166G>A	uc004cxj.3	+	0	743	c.90G>A	c.(88-90)gtG>gtA	p.V30V		NM_005314	NP_005305	P30550	GRPR_HUMAN	Homo sapiens gastrin-releasing peptide receptor (GRPR), mRNA.	30					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					ATCTCCCCGTGAACGATGACT	0.478											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16142166	G	A	16142166	2	1	126	1	0	0	0	0	0	0	0	1	6863	1277	45	2		2	GRPR	23	16142166	Silent	SNP	G	TCGA-14-0740-01B-01D-1845-08		16142166	139128394	55	8529											
FOXR2	139628	broad.mit.edu	37	chrX	55650332	55650332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaatgcctcagaagaGgagacccagtcctgatggag	13	5	12	11	0	1	5	1	1	0	4	2	7	2	6	4	2	1	0	4	2	2	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:55650332G>C	uc004duo.3	+	0	500	c.188G>C	c.(187-189)aGg>aCg	p.R63T		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	63					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						CCTCAGAAGAGGAGACCCAGT	0.537													C	55650332	G	C	55650332	3	2	126	1	0	0	0	0	1	0	0	0	6083	1000	35	4	190	4	FOXR2	23	55650332	Missense_Mutation	SNP	G	TCGA-14-0740-01B-01D-1845-08	39508166	55650332	99620228	56	8530											
MAGEA5	4104	broad.mit.edu	37	chrX	151283896	151283896	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaggagaggaggaggaCacagcctcctgctcctcagt	11	5	13	12	0	1	2	1	0	0	2	3	6	3	5	4	4	2	1	4	4	0	0			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:151283896C>T	uc004ffj.3	-	2	289	c.117G>A	c.(115-117)gtG>gtA	p.V39V	MAGEA5_uc022cgy.1_Silent_p.V39V	NM_021049	NP_066387	P43359	MAGA5_HUMAN	Homo sapiens melanoma antigen family A, 5 (MAGEA5), mRNA.	39	MAGE.									endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	Acute lymphoblastic leukemia(192;6.56e-05)					AGGAGGAGGACACAGCCTCCT	0.647													T	151283896	C	T	151283896	2	4	126	1	0	0	0	0	0	0	0	1	9242	465	17	2		2	MAGEA5	23	151283896	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	95633564	151283896	3986664	57	8531											
OPN1MW	2652	broad.mit.edu	37	chrX	153490645	153490645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggccaccctatgtgtgtCctggagggctacaccgtctc	5	10	12	14	1	1	0	0	0	1	0	3	1	2	1	4	3	1	1	4	3	2	2			TCGA-14-0740-01B-01D-1845-08	TCGA-14-0740-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f49859c4-adf9-4c53-8288-8a7ad65a940d	36ba7e2f-dcc9-4046-b7e7-a9e4c732841d	g.chrX:153490645C>T	uc004fkd.3	+	1	463	c.381C>T	c.(379-381)gtC>gtT	p.V127V		NM_000513	NP_001041646	P04001	OPSG_HUMAN	Homo sapiens opsin 1 (cone pigments), medium-wave-sensitive (OPN1MW), mRNA.	127					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTATGTGTGTCCTGGAGGGCT	0.617													T	153490645	C	T	153490645	2	4	126	1	0	0	0	0	0	0	0	1	10954	842	30	2		2	OPN1MW	23	153490645	Silent	SNP	C	TCGA-14-0740-01B-01D-1845-08	2206749	153490645	1779915	58	8532											
ASPM	259266	broad.mit.edu	37	chr1	197071366	197071366	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagtagactggatgaaagTagcagccctgtgcatctctc	12	9	11	9	0	1	2	0	1	1	1	3	4	1	3	1	1	3	4	1	1	4	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:197071366T>G	uc001gtu.3	-	17	7272	c.7015A>C	c.(7015-7017)Act>Cct	p.T2339P	ASPM_uc001gtv.3_Intron|ASPM_uc001gtw.4_Missense_Mutation_p.T187P	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	2339	IQ 22.|IQ 23.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGGATGAAAGTAGCAGCCCTG	0.408													G	197071366	T	G	197071366	3	3	127	1	0	0	0	0	1	0	0	0	1061	1638	57	5	3462	5	ASPM	1	197071366	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08		197071366	52179255	1	8533											
RRP15	51018	broad.mit.edu	37	chr1	218478415	218478415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatgtgcagagtaaagccaGatgttgtccaagacaaagag	15	8	12	6	0	0	5	0	1	0	4	1	5	1	5	2	0	2	3	2	0	4	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr1:218478415G>A	uc001hlj.3	+	2	481	c.451G>A	c.(451-453)Gat>Aat	p.D151N		NM_016052	NP_057136	Q9Y3B9	RRP15_HUMAN	Homo sapiens ribosomal RNA processing 15 homolog (S. cerevisiae) (RRP15), mRNA.	151						mitochondrion|nucleolus	protein binding		ACBD6/RRP15(2)	NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14				all cancers(67;0.0315)|OV - Ovarian serous cystadenocarcinoma(81;0.0411)|GBM - Glioblastoma multiforme(131;0.06)|Epithelial(68;0.248)		AGTAAAGCCAGATGTTGTCCA	0.363													A	218478415	G	A	218478415	3	1	127	1	0	0	0	0	1	0	0	0	13778	942	33	2	461	2	RRP15	1	218478415	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	21407049	218478415	30772206	2	8534											
APOB	338	broad.mit.edu	37	chr2	21238335	21238335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcaggcgaccagtgggCgaggatctcacttctggctt	6	11	14	10	2	2	0	1	0	2	0	3	3	2	1	1	5	0	2	1	5	0	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:21238335C>T	uc002red.3	-	21	3543	c.3415G>A	c.(3415-3417)Gcc>Acc	p.A1139T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	1139					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACCAGTGGGCGAGGATCTCA	0.463													T	21238335	C	T	21238335	3	4	127	1	0	0	0	0	1	0	0	0	788	768	27	1	10308	1	APOB	2	21238335	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		21238335	221961038	3	8535											
SDPR	8436	broad.mit.edu	37	chr2	192711670	192711670	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggctaggcaggtgggaacGttctttctctctgggagctg	6	12	15	8	1	3	0	0	0	3	0	4	2	3	2	0	5	2	4	0	5	2	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:192711670G>A	uc002utb.3	-	0						NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.							caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	AGGTGGGAACGTTCTTTCTCT	0.617													A	192711670	G	A	192711670	1	1	127	1	0	0	0	0	0	0	0	0	14063	1160	40	1		1	SDPR	2	192711670	Translation_Start_Site	SNP	G	TCGA-14-0781-01B-01D-1696-08	171473335	192711670	50487703	4	8536											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483659	202483659	+	Frame_Shift_Del	DEL	G	G	-																															ccggtgccctcctggttcttGttcttaggcagggccgtcgt																										TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr2:202483659delG	uc002uyf.3	-	0	247	c.195delC	c.(193-195)aacfs	p.N65fs	ALS2CR11_uc002uye.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc010fti.3_Frame_Shift_Del_p.N65fs|ALS2CR11_uc021vvc.1_Frame_Shift_Del_p.N65fs	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	65								p.K64N(1)		NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						CCTGGTTCTTGTTCTTAGGCA	0.657													-	202483659	G	-	202483659	7	5	127	1	0	1	0	1	0	0	0	0	552	1368	48	0	5478	0	ALS2CR11	2	202483659	Frame_Shift_Del	DEL	G	TCGA-14-0781-01B-01D-1696-08	9771989	202483659	40715714	5	8537											
UNC5C	8633	broad.mit.edu	37	chr4	96127874	96127874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagtgaggacgactgggcGggtgagcagagctcctgggg	8	6	19	8	2	0	3	0	2	0	1	1	5	1	4	1	5	2	2	1	5	1	1	rs139568380	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr4:96127874G>A	uc003hto.3	-	10	2160	c.1807C>T	c.(1807-1809)Cgc>Tgc	p.R603C	UNC5C_uc010ilc.2_Missense_Mutation_p.R622C	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	603	ZU5.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	p.R603S(2)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		ACGACTGGGCGGGTGAGCAGA	0.582													A	96127874	G	A	96127874	3	1	127	1	0	0	0	0	1	0	0	0	17095	1116	39	1	1012	1	UNC5C	4	96127874	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		96127874	95026402	6	8538											
AHRR	57491	broad.mit.edu	37	chr5	422882	422882	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatttatgactacatccaCgtggacgaccgccaggactt	12	9	8	12	3	0	1	0	1	0	0	1	4	1	3	3	2	2	0	3	2	3	4	rs2671894	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:422882C>T	uc003jav.3	+	5	535	c.492C>T	c.(490-492)caC>caT	p.H164H	AHRR_uc003jaw.3_Silent_p.H164H|AHRR_uc010isy.3_Silent_p.H10H|AHRR_uc010isz.3_Silent_p.H160H|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Silent_p.H20H	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	164	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACTACATCCACGTGGACGACC	0.547													T	422882	C	T	422882	2	4	127	1	0	0	0	0	0	0	0	1	417	535	19	1		1	AHRR	5	422882	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		422882	180492378	7	8539											
CARD6	84674	broad.mit.edu	37	chr5	40853877	40853877	+	Frame_Shift_Del	DEL	T	T	-																															gatgtcactcgaatggaacaTttgggagactgccaagaccc																										TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:40853877delT	uc003jmg.3	+	2	2518	c.2443delT	c.(2443-2445)tttfs	p.F815fs		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	815					apoptosis|regulation of apoptosis	intracellular		p.T814K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GAATGGAACATTTGGGAGACT	0.453													-	40853877	T	-	40853877	7	5	127	1	0	1	0	1	0	0	0	0	2676	1493	52	0	2453	0	CARD6	5	40853877	Frame_Shift_Del	DEL	T	TCGA-14-0781-01B-01D-1696-08	40430995	40853877	140061383	8	8540											
HCN1	348980	broad.mit.edu	37	chr5	45262241	45262241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttccggggaccgccgtcaCgggttgagggatggaggcca	6	6	18	11	5	1	1	1	1	0	0	2	4	2	4	4	6	0	2	4	6	0	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:45262241C>T	uc003jok.3	-	7	2480	c.2455G>A	c.(2455-2457)Gtg>Atg	p.V819M		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	819						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						ACCGCCGTCACGGGTTGAGGG	0.677													T	45262241	C	T	45262241	3	4	127	1	0	0	0	0	1	0	0	0	7051	536	19	1	221	1	HCN1	5	45262241	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	4408364	45262241	135653019	9	8541											
DMGDH	29958	broad.mit.edu	37	chr5	78326739	78326739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgccaaatggtgataGgtcagttaccgctactcttt	11	13	8	9	1	2	1	1	1	1	0	2	1	2	1	2	2	4	2	2	2	5	5			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr5:78326739G>T	uc003kfs.3	-	9	1606	c.1600C>A	c.(1600-1602)Cta>Ata	p.L534I	DMGDH_uc011cte.1_Missense_Mutation_p.L384I|DMGDH_uc011ctf.1_Missense_Mutation_p.L333I|DMGDH_uc011ctg.1_Missense_Mutation_p.L154I	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	534					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		AATGGTGATAGGTCAGTTACC	0.433													T	78326739	G	T	78326739	3	4	127	1	0	0	0	0	1	0	0	0	4620	991	35	4	1028	4	DMGDH	5	78326739	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	33064498	78326739	102588521	10	8542											
GCNT2	2651	broad.mit.edu	37	chr6	10529185	10529186	+	Frame_Shift_Del	DEL	TT	TT	-																															ctgtctttttagcgcgtctcTtatctctgccctgatttttg																										TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:10529185_10529186delTT	uc010joo.3	+	2	592_593	c.41_42delTT	c.(40-42)cttfs	p.L14fs	GCNT2_uc010jol.3_Intron|GCNT2_uc010jom.3_Intron|GCNT2_uc010jop.3_Intron|GCNT2_uc003mza.3_Intron|GCNT2_uc003mzc.4_Frame_Shift_Del_p.L13fs	NM_145649	NP_663624	Q8N0V5	GNT2A_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group) (GCNT2), transcript variant 1, mRNA.	14						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		AGCGCGTCTCTTATCTCTGCCC	0.401													-	10529186	TT	-	10529185	7	5	127	1	0	1	0	1	0	0	0	0	6355	1609	56	0	43	0	GCNT2	6	10529185	Frame_Shift_Del	DEL	TT	TCGA-14-0781-01B-01D-1696-08		10529185	160585882	11	8543											
LAMA2	3908	broad.mit.edu	37	chr6	129823804	129823804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctcctgggtattttacagGgtccttgtgctgcagaatca	7	14	10	10	0	2	1	1	0	1	1	4	1	3	1	2	2	3	3	2	2	3	4			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:129823804G>A	uc021zfb.1	+	59	8350	c.8245_splice	c.e59-1	p.G2749_splice	LAMA2_uc003qbn.3_Splice_Site_p.G2747_splice|LAMA2_uc003qbo.3_Splice_Site_p.G2743_splice|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2749					cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TATTTTACAGGGTCCTTGTGC	0.388													A	129823804	G	A	129823804	3	1	127	1	0	0	0	0	1	0	0	0	8665	1246	43	2	8479	2	LAMA2	6	129823804	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	119294619	129823804	41291263	12	8544											
PHACTR2	9749	broad.mit.edu	37	chr6	144086812	144086812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagttgtcctcgtcagcgTtggagctgacctgcccgtct	4	12	11	14	3	2	1	1	1	1	0	5	2	4	2	4	1	3	3	4	1	0	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:144086812T>C	uc010khi.3	+	5	1308	c.1109T>C	c.(1108-1110)gTt>gCt	p.V370A	PHACTR2_uc003qjq.4_Missense_Mutation_p.V359A|PHACTR2_uc010khh.3_Missense_Mutation_p.V279A|PHACTR2_uc003qjr.4_Missense_Mutation_p.V290A	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	359							actin binding|protein phosphatase inhibitor activity	p.I369I(1)		NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		CTCGTCAGCGTTGGAGCTGAC	0.582													C	144086812	T	C	144086812	3	2	127	1	0	0	0	0	1	0	0	0	11887	1725	60	3	1148	3	PHACTR2	6	144086812	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08	14263008	144086812	27028255	13	8545											
SERAC1	84947	broad.mit.edu	37	chr6	158579375	158579375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcttctgcaacagatgacGcaataagcagccagggacat	14	8	9	10	1	2	2	0	1	2	1	2	3	2	3	1	1	4	3	1	1	3	3	rs139301835	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr6:158579375G>A	uc003qrc.2	-	1	163	c.21C>T	c.(19-21)tgC>tgT	p.C7C	SERAC1_uc003qrb.2_5'UTR	NM_032861	NP_116250	Q96JX3	SRAC1_HUMAN	Homo sapiens serine active site containing 1 (SERAC1), mRNA.	7					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AACAGATGACGCAATAAGCAG	0.363													A	158579375	G	A	158579375	2	1	127	1	0	0	0	0	0	0	0	1	14167	1079	38	1		1	SERAC1	6	158579375	Silent	SNP	G	TCGA-14-0781-01B-01D-1696-08	14492563	158579375	12535692	14	8546											
PCLO	27445	broad.mit.edu	37	chr7	82579939	82579939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaagcagttccagaaGggtcatagttatactggtag	12	10	14	5	0	1	2	1	0	0	2	2	3	2	2	1	3	2	4	1	3	6	5			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:82579939G>T	uc003uhx.2	-	5	10254	c.9965C>A	c.(9964-9966)cCt>cAt	p.P3322H	PCLO_uc003uhv.2_Missense_Mutation_p.P3322H|PCLO_uc010lec.3_Missense_Mutation_p.P287H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3253					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTTCCAGAAGGGTCATAGTT	0.478													T	82579939	G	T	82579939	3	4	127	1	0	0	0	0	1	0	0	0	11659	1000	35	4	5560	4	PCLO	7	82579939	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		82579939	76558724	15	8547											
EPHB4	2050	broad.mit.edu	37	chr7	100411279	100411279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attagggcaacccaccatgtCcgatgagatactgtccgtgt	10	10	10	11	2	0	1	0	1	0	1	2	3	2	1	4	1	2	1	4	1	3	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:100411279C>T	uc003uwn.1	-	9	2242	c.1751G>A	c.(1750-1752)gGa>gAa	p.G584E	EPHB4_uc003uwm.1_Missense_Mutation_p.G491E|EPHB4_uc010lhj.1_Missense_Mutation_p.G584E	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	584					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.I583I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCACCATGTCCGATGAGATA	0.522													T	100411279	C	T	100411279	3	4	127	1	0	0	0	0	1	0	0	0	5218	855	30	2	1244	2	EPHB4	7	100411279	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	17831340	100411279	58727384	16	8548											
CADPS2	93664	broad.mit.edu	37	chr7	121960313	121960313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctcctctactgttaaaCgtctgtgcacagtatcataa	10	13	7	11	1	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	5	4			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr7:121960313C>T	uc022akp.1	-	28	4219	c.3797G>A	c.(3796-3798)cGt>cAt	p.R1266H	CADPS2_uc003vkg.4_Missense_Mutation_p.R920H|CADPS2_uc022akq.1_3'UTR|CADPS2_uc010lkq.3_Missense_Mutation_p.R1225H|CADPS2_uc022akr.1_Missense_Mutation_p.R1266H	NM_001167940	NP_001161412	Q86UW7	CAPS2_HUMAN	Homo sapiens Ca++-dependent secretion activator 2 (CADPS2), transcript variant 3, mRNA.	1266					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TACTGTTAAACGTCTGTGCAC	0.433													T	121960313	C	T	121960313	3	4	127	1	0	0	0	0	1	0	0	0	2597	536	19	1	97	1	CADPS2	7	121960313	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	21549034	121960313	37178350	17	8549											
FREM1	158326	broad.mit.edu	37	chr9	14824887	14824887	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaatgtagctgtttcttaGttatataggccacctcagtt	11	16	7	7	0	2	0	1	0	1	0	2	0	2	0	2	1	1	5	2	1	7	8			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:14824887G>C	uc003zlm.3	-	11	2801	c.1985C>G	c.(1984-1986)aCt>aGt	p.T662S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	662					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CTGTTTCTTAGTTATATAGGC	0.428													C	14824887	G	C	14824887	3	2	127	1	0	0	0	0	1	0	0	0	6096	1029	36	4	4712	4	FREM1	9	14824887	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		14824887	126388544	18	8550											
CRB2	286204	broad.mit.edu	37	chr9	126136965	126136965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgcctggagggtcttgCtggccagaggtgggtctggg	4	9	19	9	0	2	1	0	0	2	1	2	2	2	2	2	6	3	2	2	6	0	1			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr9:126136965C>T	uc004bnx.1	+	10	3589	c.3497C>T	c.(3496-3498)gCt>gTt	p.A1166V		NM_173689	NP_775960	Q5IJ48	CRUM2_HUMAN	Homo sapiens crumbs homolog 2 (Drosophila) (CRB2), mRNA.	1166	EGF-like 14.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GAGGGTCTTGCTGGCCAGAGG	0.657													T	126136965	C	T	126136965	3	4	127	1	0	0	0	0	1	0	0	0	3880	797	28	2	3539	2	CRB2	9	126136965	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	111312078	126136965	15076466	19	8551											
PTEN	5728	broad.mit.edu	37	chr10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagtaactattcccaGtcagaggcgctatgtgtatt	10	11	11	9	1	1	1	1	0	0	1	2	2	2	2	2	2	1	3	2	2	4	6			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr10:89711891G>A	uc001kfb.3	+	5	1541	c.509G>A	c.(508-510)aGt>aAt	p.S170N	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711891	G	A	89711891	3	1	127	1	0	0	0	0	1	0	0	0	12823	1029	36	2	531	2	PTEN	10	89711891	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		89711891	45822856	20	8552											
SLC22A10	387775	broad.mit.edu	37	chr11	63069908	63069908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgtcgctctcatagttcGatgtcttgctcttttgacac	6	16	8	11	2	3	1	1	1	3	0	6	2	3	1	0	0	2	4	0	0	1	5			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:63069908G>A	uc009yor.3	+	6	1386	c.1178G>A	c.(1177-1179)cGa>cAa	p.R393Q	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Intron|SLC22A10_uc010rmp.1_Intron	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	393						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCATAGTTCGATGTCTTGCT	0.438													A	63069908	G	A	63069908	3	1	127	1	0	0	0	0	1	0	0	0	14535	1058	37	1	1204	1	SLC22A10	11	63069908	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		63069908	71936608	21	8553											
NAALADL1	10004	broad.mit.edu	37	chr11	64821985	64821985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggaattgggggaaatcCggagacattggcaaggtcca	12	8	15	6	1	0	1	0	0	0	1	2	4	2	3	2	6	0	2	2	6	4	3	rs138766443		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:64821985C>T	uc001ocn.3	-	4	845	c.829G>A	c.(829-831)Gga>Aga	p.G277R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	277	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGGGGAAATCCGGAGACATTG	0.597													T	64821985	C	T	64821985	3	4	127	1	0	0	0	0	1	0	0	0	10205	661	23	1	1449	1	NAALADL1	11	64821985	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	1752077	64821985	70184531	22	8554											
UNC93B1	81622	broad.mit.edu	37	chr11	67765220	67765220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttccgctccgcgggagcgtCcgcagaaccgtcttgttgaa	6	10	12	13	6	1	2	0	1	1	1	4	3	4	3	4	1	2	3	4	1	2	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:67765220C>T	uc001omw.1	-	6	911	c.831G>A	c.(829-831)cgG>cgA	p.R277R		NM_030930	NP_112192	Q9H1C4	UN93B_HUMAN	Homo sapiens unc-93 homolog B1 (C. elegans) (UNC93B1), mRNA.	277					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											GCGGGAGCGTCCGCAGAACCG	0.652													T	67765220	C	T	67765220	2	4	127	1	0	0	0	0	0	0	0	1	17099	842	30	2		2	UNC93B1	11	67765220	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	2943235	67765220	67241296	23	8555											
MMP10	4319	broad.mit.edu	37	chr11	102646042	102646042	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttccagtgggatcttcGccaaaaatatctgtaataca	13	11	9	8	1	2	0	0	0	2	0	4	1	3	1	2	2	1	2	2	2	5	5	rs150825082	byFrequency	TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr11:102646042G>A	uc001phg.2	-	6	980	c.943C>T	c.(943-945)Cga>Tga	p.R315*		NM_002425	NP_002416	P09238	MMP10_HUMAN	Homo sapiens matrix metallopeptidase 10 (stromelysin 2) (MMP10), mRNA.	315	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TGGGATCTTCGCCAAAAATAT	0.333													A	102646042	G	A	102646042	4	1	127	1	0	0	0	0	0	1	0	0	9724	1095	38	1	503	1	MMP10	11	102646042	Nonsense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	34880822	102646042	32360474	24	8556											
KCNA1	3736	broad.mit.edu	37	chr12	5020794	5020794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgagtacttcttcgacCgcaaccggcccagcttcgac	9	7	10	15	5	1	0	0	0	1	0	3	4	1	1	3	2	4	3	3	2	3	4			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:5020794C>T	uc001qnh.3	+	1	1355	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	KCNA1_uc021qts.1_Missense_Mutation_p.R84C	NM_000217	NP_000208	Q09470	KCNA1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia) (KCNA1), mRNA.	84					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CTTCTTCGACCGCAACCGGCC	0.627													T	5020794	C	T	5020794	3	4	127	1	0	0	0	0	1	0	0	0	8059	652	23	1	252	1	KCNA1	12	5020794	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		5020794	128831101	25	8557											
C12orf63	374467	broad.mit.edu	37	chr12	97085019	97085019	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatagatacagggctgaCatttgctctgtaattgcaag	12	12	10	7	0	2	3	1	1	1	2	2	3	2	3	0	1	3	4	0	1	4	5			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr12:97085019C>T	uc021rcc.1	+	10	1548	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	490										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ACAGGGCTGACATTTGCTCTG	0.358													T	97085019	C	T	97085019	2	4	127	1	0	0	0	0	0	0	0	1	1719	477	17	2		2	C12orf63	12	97085019	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	92064225	97085019	36766876	26	8558											
PCDH20	64881	broad.mit.edu	37	chr13	61986212	61986212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcaccacagagagggcgaCccatccatttcgtccagcgt	9	8	10	14	3	1	1	1	0	0	1	4	3	3	1	4	1	1	1	4	1	0	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr13:61986212C>G	uc001vid.4	-	1	2384	c.2020G>C	c.(2020-2022)Gtc>Ctc	p.V674L	PCDH20_uc010thj.2_Missense_Mutation_p.V674L	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	647	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GAGAGGGCGACCCATCCATTT	0.458													G	61986212	C	G	61986212	3	3	127	1	0	0	0	0	1	0	0	0	11591	507	18	4	839	4	PCDH20	13	61986212	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		61986212	53183666	27	8559											
LRFN5	145581	broad.mit.edu	37	chr14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcagatctgtccaaagCgttgtgtctgtcagattttg	9	14	10	8	1	4	2	2	0	2	2	5	2	5	2	1	0	2	2	1	0	2	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:42355895C>T	uc001wvm.3	+	2	1265	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_uc010ana.3_Missense_Mutation_p.R23C	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	23	LRRNT.					integral to membrane		p.R23H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)			T	42355895	C	T	42355895	3	4	127	1	0	0	0	0	1	0	0	0	9011	768	27	1	69	1	LRFN5	14	42355895	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		42355895	64993645	28	8560											
GPR65	8477	broad.mit.edu	37	chr14	88478097	88478097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acaggaagatatgatatgtgGaatatattaaaattctgcac	17	12	8	4	0	1	2	0	1	1	1	1	4	1	4	0	2	1	1	0	2	8	6			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr14:88478097G>A	uc021rxh.1	+	0	906	c.906G>A	c.(904-906)tgG>tgA	p.W302*	GPR65_uc001xvv.3_Nonsense_Mutation_p.W302*	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	302					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						ATGATATGTGGAATATATTAA	0.343													A	88478097	G	A	88478097	4	1	127	1	0	0	0	0	0	1	0	0	6760	1183	41	2	908	2	GPR65	14	88478097	Nonsense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08	46122202	88478097	18871443	29	8561											
IGF1R	3480	broad.mit.edu	37	chr15	99454571	99454571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgacgtcctgcatttcacctCcaccaccacgtcgaagaatc	10	9	6	16	3	1	2	1	1	0	1	5	3	3	2	5	0	1	1	5	0	2	1			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:99454571C>G	uc002bul.3	+	6	1540	c.1490C>G	c.(1489-1491)tCc>tGc	p.S497C	IGF1R_uc010urq.2_Missense_Mutation_p.S497C|IGF1R_uc010bon.3_Missense_Mutation_p.S497C|IGF1R_uc010urr.1_5'UTR	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	497	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CATTTCACCTCCACCACCACG	0.522													G	99454571	C	G	99454571	3	3	127	1	0	0	0	0	1	0	0	0	7629	855	30	4	1516	4	IGF1R	15	99454571	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		99454571	3076821	30	8562											
LRRK1	79705	broad.mit.edu	37	chr15	101595206	101595206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaaaatagcctaccagatCgcctcgggcctggcctacct	11	7	8	15	2	0	1	0	0	0	1	2	1	0	1	6	2	3	0	6	2	6	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr15:101595206C>T	uc002bwr.3	+	26	4429	c.4110C>T	c.(4108-4110)atC>atT	p.I1370I	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1370	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCTACCAGATCGCCTCGGGCC	0.438													T	101595206	C	T	101595206	2	4	127	1	0	0	0	0	0	0	0	1	9102	874	31	1		1	LRRK1	15	101595206	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08	2140635	101595206	936186	31	8563											
CHST5	23563	broad.mit.edu	37	chr16	75564022	75564022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatcaggtagaagacGtcggggtgctggctgaagag	9	7	17	8	2	1	4	1	1	0	3	3	4	2	4	1	5	1	4	1	5	3	1			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr16:75564022G>A	uc002fej.1	-	4	600	c.279C>T	c.(277-279)gaC>gaT	p.D93D	CHST5_uc002fei.3_Silent_p.D87D|CHST5_uc021tlk.1_Silent_p.D87D	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	87					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						GGTAGAAGACGTCGGGGTGCT	0.672													A	75564022	G	A	75564022	2	1	127	1	0	0	0	0	0	0	0	1	3437	1136	40	1		1	CHST5	16	75564022	Silent	SNP	G	TCGA-14-0781-01B-01D-1696-08		75564022	14790731	32	8564											
MED13	9969	broad.mit.edu	37	chr17	60107352	60107352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagaaaatttgacccaCttctggacagactgaggatc	14	9	9	9	0	1	5	0	3	1	2	2	7	1	7	1	2	0	0	1	2	3	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr17:60107352C>G	uc002izo.3	-	6	1109	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	MED13_uc002izp.3_5'UTR	NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	344					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATTTGACCCACTTCTGGACAG	0.363													G	60107352	C	G	60107352	3	3	127	1	0	0	0	0	1	0	0	0	9505	564	20	4	5588	4	MED13	17	60107352	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		60107352	21087858	33	8565											
LAMA1	284217	broad.mit.edu	37	chr18	7011417	7011417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtaaaccccctcggtcGtgcccctcaagttactctga	8	10	9	14	2	2	1	1	1	1	0	4	1	2	1	4	2	3	3	4	2	5	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr18:7011417G>A	uc002knm.3	-	24	3663	c.3569C>T	c.(3568-3570)aCg>aTg	p.T1190M	LAMA1_uc010wzj.2_Missense_Mutation_p.T666M	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1190	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCCTCGGTCGTGCCCCTCAA	0.597													A	7011417	G	A	7011417	3	1	127	1	0	0	0	0	1	0	0	0	8664	1145	40	1	5814	1	LAMA1	18	7011417	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		7011417	71065831	34	8566											
MUC16	94025	broad.mit.edu	37	chr19	9088981	9088981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgtgacattgttgccGtcccagtgaggtgagatatt	7	14	13	7	1	1	3	0	3	1	1	2	4	2	3	2	2	1	1	2	2	1	4			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:9088981G>A	uc002mkp.3	-	0	3038	c.2834C>T	c.(2833-2835)aCg>aTg	p.T945M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	945	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						CATTGTTGCCGTCCCAGTGAG	0.478													A	9088981	G	A	9088981	3	1	127	1	0	0	0	0	1	0	0	0	10049	1145	40	1	41025	1	MUC16	19	9088981	Missense_Mutation	SNP	G	TCGA-14-0781-01B-01D-1696-08		9088981	50040002	35	8567											
FCGBP	8857	broad.mit.edu	37	chr19	40376645	40376645	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcacgacagaaagtttcaTtcctccagggctccacgtgg	10	9	9	13	2	2	1	2	0	0	1	5	2	5	1	3	2	0	2	3	2	1	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr19:40376645T>G	uc002omp.4	-	23	11785	c.11777A>C	c.(11776-11778)aAt>aCt	p.N3926T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3926						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GAAAGTTTCATTCCTCCAGGG	0.627													G	40376645	T	G	40376645	3	3	127	1	0	0	0	0	1	0	0	0	5827	1493	52	5	4492	5	FCGBP	19	40376645	Missense_Mutation	SNP	T	TCGA-14-0781-01B-01D-1696-08	31287664	40376645	18752338	36	8568											
PFKL	5211	broad.mit.edu	37	chr21	45732952	45732952	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgacttctgcggcaccgaCatgaccatcggcacggactc	10	6	10	15	5	1	1	0	1	1	0	3	4	1	2	2	3	2	2	2	3	1	1			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr21:45732952C>T	uc002zek.3	+	7	1061	c.660C>T	c.(658-660)gaC>gaT	p.D220D	PFKL_uc002zel.3_Silent_p.D173D|PFKL_uc011afd.1_Silent_p.D220D			P17858	K6PL_HUMAN	Homo sapiens phosphofructokinase, liver (PFKL), transcript variant 1, non-coding RNA.	173					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	p.T219A(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GCGGCACCGACATGACCATCG	0.632													T	45732952	C	T	45732952	2	4	127	1	0	0	0	0	0	0	0	1	11841	477	17	2		2	PFKL	21	45732952	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		45732952	2396943	37	8569											
PARVB	29780	broad.mit.edu	37	chr22	44536022	44536022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgatgatgggccggttCggtaagtaaccccagggaaa	12	7	15	7	2	0	2	0	2	0	0	1	4	0	4	3	5	1	3	3	5	3	3	rs149571024		TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chr22:44536022C>T	uc003bem.3	+	9	941	c.811_splice	c.e9+1	p.E271_splice	PARVB_uc003ben.3_Splice_Site_p.E238_splice|PARVB_uc010gzn.3_Splice_Site_p.E186_splice|PARVB_uc003beo.3_Splice_Site_p.E201_splice	NM_001003828	NP_001003828	Q9HBI1	PARVB_HUMAN	Homo sapiens parvin, beta (PARVB), transcript variant 1, mRNA.	238	CH 2.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				TGGGCCGGTTCGGTAAGTAAC	0.532													T	44536022	C	T	44536022	2	4	127	1	0	0	0	0	0	0	0	1	11545	898	31	1		1	PARVB	22	44536022	Silent	SNP	C	TCGA-14-0781-01B-01D-1696-08		44536022	6768544	38	8570											
GATA1	2623	broad.mit.edu	37	chrX	48650419	48650419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggatggaaaaggcagcaCcagcttcctggagactttga	11	9	12	9	0	1	2	0	1	1	1	2	5	2	4	2	4	2	3	2	4	2	2			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:48650419C>A	uc004dkq.4	+	2	480	c.389C>A	c.(388-390)aCc>aAc	p.T130N		NM_002049	NP_002040	P15976	GATA1_HUMAN	Homo sapiens GATA binding protein 1 (globin transcription factor 1) (GATA1), mRNA.	130					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V74_C199del(1)|p.S129R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						AAAGGCAGCACCAGCTTCCTG	0.602			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								A	48650419	C	A	48650419	3	1	127	1	0	0	0	0	1	0	0	0	6307	507	18	4	395	4	GATA1	23	48650419	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08		48650419	106620141	39	8571											
ACTRT1	139741	broad.mit.edu	37	chrX	127185485	127185485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcccaggacctctcccCggctcttgcgtagctctttc	4	12	8	17	2	3	0	0	0	3	0	6	1	4	1	4	2	3	4	4	2	1	3			TCGA-14-0781-01B-01D-1696-08	TCGA-14-0781-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	13878ec6-fce7-423e-b545-6656145e9d2c	59932204-ddef-439f-8b64-e40f5605827c	g.chrX:127185485C>T	uc004eum.3	-	0	898	c.701G>A	c.(700-702)cGg>cAg	p.R234Q		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	234						cytoplasm|cytoskeleton		p.S233I(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GACCTCTCCCCGGCTCTTGCG	0.507													T	127185485	C	T	127185485	3	4	127	1	0	0	0	0	1	0	0	0	218	652	23	1	433	1	ACTRT1	23	127185485	Missense_Mutation	SNP	C	TCGA-14-0781-01B-01D-1696-08	78535066	127185485	28085075	40	8572											
OMA1	115209	broad.mit.edu	37	chr1	58946683	58946683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgttaatggtatttgcTcctgtttttgaataggaaga	10	18	10	3	0	0	2	0	1	0	1	1	3	1	3	1	2	1	5	1	2	6	7	rs71730803		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:58946683T>C	uc001cyy.3	-	8	1617	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G	DAB1_uc001cyt.1_Intron|OMA1_uc001cyx.1_Intron	NM_145243	NP_660286	Q96E52	OMA1_HUMAN	Homo sapiens OMA1 zinc metallopeptidase homolog (S. cerevisiae) (OMA1), mRNA.	510					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					TGGTATTTGCTCCTGTTTTTG	0.328													C	58946683	T	C	58946683	3	2	128	1	0	0	0	0	1	0	0	0	10940	1551	54	3	49	3	OMA1	1	58946683	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		58946683	190303938	1	8573											
GJA8	2703	broad.mit.edu	37	chr1	147380346	147380346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcttcgtctccaccccGtccctgatgtacgtggggca	6	11	9	15	3	3	1	1	1	2	0	6	1	4	1	4	2	1	2	4	2	1	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:147380346G>A	uc021ovm.1	+	0	264	c.264G>A	c.(262-264)ccG>ccA	p.P88P	GJA8_uc001epu.2_Silent_p.P88P	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	88			P -> S (in CZP1).		cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTCCACCCCGTCCCTGATGT	0.642													A	147380346	G	A	147380346	2	1	128	1	0	0	0	0	0	0	0	1	6461	1132	40	1		1	GJA8	1	147380346	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	88433663	147380346	101870275	2	8574											
LAMB3	3914	broad.mit.edu	37	chr1	209803992	209803992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtcctggccctccgccGgtctccagggccggttgttg	1	9	16	15	4	1	0	0	0	1	0	4	0	3	0	6	5	0	2	6	5	0	2	rs114394307	by1000genomes	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:209803992G>A	uc001hhg.3	-	7	1301	c.911C>T	c.(910-912)cCg>cTg	p.P304L	LAMB3_uc009xco.3_Missense_Mutation_p.P304L|LAMB3_uc001hhh.3_Missense_Mutation_p.P304L|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.P240L	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	304	Laminin EGF-like 1.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GCCCTCCGCCGGTCTCCAGGG	0.622													A	209803992	G	A	209803992	3	1	128	1	0	0	0	0	1	0	0	0	8671	1116	39	1	2667	1	LAMB3	1	209803992	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	62423646	209803992	39446629	3	8575											
RYR2	6262	broad.mit.edu	37	chr1	237774131	237774131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgccgcagtgccccccgCgcctccacgtgcagttcctg	3	7	11	20	5	0	0	0	0	0	0	2	0	2	0	8	0	3	3	8	0	0	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr1:237774131C>T	uc001hyl.1	+	35	4873	c.4753C>T	c.(4753-4755)Cgc>Tgc	p.R1585C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1585	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCCCCCCGCGCCTCCACGT	0.537													T	237774131	C	T	237774131	3	4	128	1	0	0	0	0	1	0	0	0	13860	768	27	1	4895	1	RYR2	1	237774131	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	27970139	237774131	11476490	4	8576											
CAD	790	broad.mit.edu	37	chr2	27465785	27465785	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcctgacactgatgtgCtctacatgactcgaatccag	9	10	9	13	2	1	3	0	3	1	0	3	4	2	3	2	0	3	2	2	0	2	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:27465785C>A	uc002rji.3	+	41	6586	c.6424C>A	c.(6424-6426)Ctc>Atc	p.L2142I	CAD_uc010eyw.3_Missense_Mutation_p.L2079I	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2142	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CACTGATGTGCTCTACATGAC	0.582													A	27465785	C	A	27465785	3	1	128	1	0	0	0	0	1	0	0	0	2591	797	28	4	6590	4	CAD	2	27465785	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		27465785	215733588	5	8577											
PRKD3	23683	broad.mit.edu	37	chr2	37501816	37501816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcgtggtgaagatatgcGgagaatttctgaaagtggaa	13	11	13	4	2	2	4	0	2	2	2	3	6	2	5	0	3	1	0	0	3	5	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:37501816G>C	uc002rqd.3	-	9	1954	c.1399C>G	c.(1399-1401)Cgc>Ggc	p.R467G	PRKD3_uc002rqe.1_Missense_Mutation_p.R67G|PRKD3_uc002rqf.1_Missense_Mutation_p.R467G	NM_005813	NP_005804	O94806	KPCD3_HUMAN	Homo sapiens protein kinase D3 (PRKD3), mRNA.	467	PH.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein binding|protein kinase C activity			breast(3)|central_nervous_system(2)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.21)				GAAGATATGCGGAGAATTTCT	0.318													C	37501816	G	C	37501816	3	2	128	1	0	0	0	0	1	0	0	0	12606	1116	39	4	1309	4	PRKD3	2	37501816	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	10036031	37501816	205697557	6	8578											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460204	107460204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcggggcagcgcctggCgtgcgtccaggcccccaggc	3	3	19	16	5	0	0	0	0	0	0	1	0	1	0	4	6	2	1	4	6	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:107460204C>T	uc002tdq.3	-	1	349	c.230G>A	c.(229-231)cGc>cAc	p.R77H	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R77H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R77H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	77					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CAGCGCCTGGCGTGCGTCCAG	0.677													T	107460204	C	T	107460204	3	4	128	1	0	0	0	0	1	0	0	0	15318	768	27	1	1466	1	ST6GAL2	2	107460204	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	69958388	107460204	135739169	7	8579											
PPIG	9360	broad.mit.edu	37	chr2	170493100	170493100	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagaagaaattcagaaaaAgatgacaagtataaaaacaa	25	6	6	4	0	2	5	2	1	0	4	2	5	2	5	0	0	1	1	0	0	10	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr2:170493100A>C	uc002uez.3	+	13	1552	c.1332A>C	c.(1330-1332)aaA>aaC	p.K444N	PPIG_uc010fpx.3_Missense_Mutation_p.K429N|PPIG_uc010fpy.3_Missense_Mutation_p.K437N|PPIG_uc002ufb.3_Missense_Mutation_p.K444N|PPIG_uc002ufd.3_Missense_Mutation_p.K441N	NM_004792	NP_004783	Q13427	PPIG_HUMAN	Homo sapiens peptidylprolyl isomerase G (cyclophilin G) (PPIG), mRNA.	444					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATTCAGAAAAAGATGACAAGT	0.313													C	170493100	A	C	170493100	3	2	128	1	0	0	0	0	1	0	0	0	12406	69	3	5	1378	5	PPIG	2	170493100	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	63032896	170493100	72706273	8	8580											
C3orf20	84077	broad.mit.edu	37	chr3	14802983	14802983	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttcctgtcaacagatgTttgccggggggaagctcatt	7	13	11	10	1	2	1	2	0	0	1	4	2	4	2	3	3	3	2	3	3	2	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:14802983T>A	uc003byy.3	+	14	2808	c.2356T>A	c.(2356-2358)Ttt>Att	p.F786I	C3orf20_uc003byz.3_Missense_Mutation_p.F664I|C3orf20_uc003bza.3_Missense_Mutation_p.F664I|C3orf20_uc003bzb.1_Missense_Mutation_p.F287I|C3orf20_uc011avj.2_Missense_Mutation_p.F113I	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	786						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						TCAACAGATGTTTGCCGGGGG	0.483													A	14802983	T	A	14802983	3	1	128	1	0	0	0	0	1	0	0	0	2234	1725	60	5	2406	5	C3orf20	3	14802983	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		14802983	183219447	9	8581											
NR2C2	7182	broad.mit.edu	37	chr3	15079601	15079601	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagctggatatagatggCtatgagtatgcataccttaa	13	11	11	6	1	0	2	0	1	0	1	0	4	0	3	1	2	3	4	1	2	7	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:15079601C>G	uc003bzj.4	+	11	1684	c.1467C>G	c.(1465-1467)ggC>ggG	p.G489G	NR2C2_uc003bzi.3_Silent_p.G508G	NM_003298	NP_003289	P49116	NR2C2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 2 (NR2C2), mRNA.	489	Ligand-binding (By similarity).				cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATATAGATGGCTATGAGTATG	0.453													G	15079601	C	G	15079601	2	3	128	1	0	0	0	0	0	0	0	1	10699	784	28	4		4	NR2C2	3	15079601	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08	276618	15079601	182942829	10	8582											
HSPBAP1	79663	broad.mit.edu	37	chr3	122459942	122459942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgattgcctcttctacccGggctaggtgatcctcttcct	4	14	10	13	1	3	2	0	2	3	0	5	2	5	2	4	3	2	1	4	3	2	5			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr3:122459942G>A	uc003efu.2	-	6	983	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	HSPBAP1_uc003eft.2_5'UTR	NM_024610	NP_078886	Q96EW2	HBAP1_HUMAN	Homo sapiens HSPB (heat shock 27kDa) associated protein 1 (HSPBAP1), mRNA.	282	JmjC.					cytoplasm		p.R282L(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		TCTTCTACCCGGGCTAGGTGA	0.423													A	122459942	G	A	122459942	3	1	128	1	0	0	0	0	1	0	0	0	7483	1115	39	1	630	1	HSPBAP1	3	122459942	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	107380341	122459942	75562488	11	8583											
SLIT2	9353	broad.mit.edu	37	chr4	20541195	20541195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatttgatactctccattCtttatctactctgtaagtat	9	18	5	9	0	4	1	0	1	4	0	5	1	4	1	1	1	2	3	1	1	5	8			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:20541195C>A	uc003gpr.1	+	18	2168	c.1964C>A	c.(1963-1965)tCt>tAt	p.S655Y	SLIT2_uc003gps.1_Missense_Mutation_p.S647Y	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	655					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACTCTCCATTCTTTATCTACT	0.308													A	20541195	C	A	20541195	3	1	128	1	0	0	0	0	1	0	0	0	14834	913	32	4	2038	4	SLIT2	4	20541195	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		20541195	170613081	12	8584											
BANK1	55024	broad.mit.edu	37	chr4	102946614	102946614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctcctctccccccgccGcgacctgtagctaatgcctt	6	9	7	19	3	1	1	0	0	1	1	3	2	2	1	8	0	2	2	8	0	2	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:102946614G>A	uc003hvy.4	+	8	1816	c.1542G>A	c.(1540-1542)ccG>ccA	p.P514P	BANK1_uc003hvx.4_Silent_p.P499P|BANK1_uc010ill.3_Silent_p.P381P|BANK1_uc003hvz.4_Silent_p.P484P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	514					B cell activation			p.P514L(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TCCCCCCGCCGCGACCTGTAG	0.433													A	102946614	G	A	102946614	2	1	128	1	0	0	0	0	0	0	0	1	1314	1074	38	1		1	BANK1	4	102946614	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	82405419	102946614	88207662	13	8585											
ALPK1	80216	broad.mit.edu	37	chr4	113353098	113353098	+	Frame_Shift_Del	DEL	C	C	-																															cagaaagcactgaagatgcaCccttagactttcacagggtc																										TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:113353098delC	uc003ian.4	+	10	2622	c.2395delC	c.(2395-2397)cccfs	p.P799fs	ALPK1_uc003iap.4_Frame_Shift_Del_p.P799fs|ALPK1_uc011cfx.2_Frame_Shift_Del_p.P721fs|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Frame_Shift_Del_p.P627fs	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	799							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TGAAGATGCACCCTTAGACTT	0.488													-	113353098	C	-	113353098	7	5	128	1	0	1	0	1	0	0	0	0	544	507	18	0	2429	0	ALPK1	4	113353098	Frame_Shift_Del	DEL	C	TCGA-14-0786-01B-01D-1492-08	10406484	113353098	77801178	14	8586											
FHDC1	85462	broad.mit.edu	37	chr4	153897835	153897835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcggaaggactccagtcGgaccacgctggggagaatcc	9	5	14	13	4	0	1	0	0	0	1	4	5	2	4	4	5	0	1	4	5	2	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr4:153897835G>A	uc003inf.2	+	10	3467	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	1131					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GACTCCAGTCGGACCACGCTG	0.637													A	153897835	G	A	153897835	3	1	128	1	0	0	0	0	1	0	0	0	5925	1116	39	1	3434	1	FHDC1	4	153897835	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	40544737	153897835	37256441	15	8587											
POU4F3	5459	broad.mit.edu	37	chr5	145719603	145719603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaagctgggggtgaccCaggcggacgtgggcgcggct	6	5	19	11	4	1	1	1	1	0	0	1	2	1	2	1	6	1	3	1	6	1	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr5:145719603C>A	uc003loa.2	+	1	702	c.613C>A	c.(613-615)Cag>Aag	p.Q205K		NM_002700	NP_002691	Q15319	PO4F3_HUMAN	Homo sapiens POU class 4 homeobox 3 (POU4F3), mRNA.	205	POU-specific.				sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q205H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGGGTGACCCAGGCGGACGT	0.657													A	145719603	C	A	145719603	3	1	128	1	0	0	0	0	1	0	0	0	12357	595	21	4	619	4	POU4F3	5	145719603	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		145719603	35195657	16	8588											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726720	25726720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgagacttagacttggcGcgtgcttttcctccctgctt	5	13	11	12	3	0	2	0	0	0	2	2	4	2	2	2	1	3	2	2	1	1	5	rs150563946	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:25726720G>A	uc003nfc.3	-	0	71	c.36C>T	c.(34-36)cgC>cgT	p.R12R	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	12					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R12P(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TAGACTTGGCGCGTGCTTTTC	0.532													A	25726720	G	A	25726720	2	1	128	1	0	0	0	0	0	0	0	1	7183	1074	38	1		1	HIST1H2AA	6	25726720	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08		25726720	145388347	17	8589											
BTN3A3	10384	broad.mit.edu	37	chr6	26452287	26452287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatcttcctggactatgAgactggagagatctcgttct	8	12	13	8	1	3	2	0	1	3	2	5	7	4	5	1	4	0	1	1	4	1	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:26452287A>G	uc003nhz.3	+	10	1646	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G	BTN3A3_uc011dkn.2_Missense_Mutation_p.E419G|BTN3A3_uc021ynh.1_Missense_Mutation_p.E258G	NM_006994	NP_008925	O00478	BT3A3_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A3 (BTN3A3), transcript variant 1, mRNA.	468	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTGGACTATGAGACTGGAGAG	0.483													G	26452287	A	G	26452287	3	3	128	1	0	0	0	0	1	0	0	0	1574	304	11	3	1437	3	BTN3A3	6	26452287	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	725567	26452287	144662780	18	8590											
EEF1A1	1915	broad.mit.edu	37	chr6	74229196	74229196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttcacgctcagctttcAgtttatccaagacccaggca	10	10	7	14	2	3	1	3	0	0	1	4	1	4	1	2	1	1	5	2	1	2	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr6:74229196A>C	uc003phi.3	-	1	1180	c.188T>G	c.(187-189)cTg>cGg	p.L63R	EEF1A1_uc003phj.3_Missense_Mutation_p.L63R|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Missense_Mutation_p.L63R|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	63						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CTCAGCTTTCAGTTTATCCAA	0.428											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	74229196	A	C	74229196	3	2	128	1	0	0	0	0	1	0	0	0	4962	188	7	5	1224	5	EEF1A1	6	74229196	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	47776909	74229196	96885871	19	8591											
IQCE	23288	broad.mit.edu	37	chr7	2611279	2611279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgtggctgggaaccGcaaagccaggtatgtggttg	10	8	16	7	1	0	1	0	0	0	1	0	2	0	2	2	4	3	5	2	4	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:2611279G>A	uc003sml.1	+	3	434	c.250G>A	c.(250-252)Gca>Aca	p.A84T	IQCE_uc010ksm.1_Missense_Mutation_p.A84T|IQCE_uc011jvy.1_Missense_Mutation_p.A68T|IQCE_uc011jvz.1_Missense_Mutation_p.A19T|IQCE_uc003smo.4_Missense_Mutation_p.A84T|IQCE_uc003smk.4_Missense_Mutation_p.A68T|IQCE_uc003smn.4_Missense_Mutation_p.A19T	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	84										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)		GCTGGGAACCGCAAAGCCAGG	0.572													A	2611279	G	A	2611279	3	1	128	1	0	0	0	0	1	0	0	0	7864	1087	38	1	264	1	IQCE	7	2611279	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		2611279	156527384	20	8592											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	128	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	52610543	55221822	103916841	21	8593											
HBP1	26959	broad.mit.edu	37	chr7	106829793	106829793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaagtgtatcatttggCgagtctgtactgaagttgac	12	12	12	5	1	2	3	1	2	1	1	2	5	2	3	0	1	1	3	0	1	5	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr7:106829793C>T	uc003vdy.3	+	6	1008	c.822C>T	c.(820-822)ggC>ggT	p.G274G	HBP1_uc011klv.2_Silent_p.G284G|HBP1_uc003vdz.3_Silent_p.G274G|HBP1_uc003vea.3_Silent_p.G274G|HBP1_uc003veb.1_Silent_p.G274G	NM_012257	NP_036389	O60381	HBP1_HUMAN	Homo sapiens HMG-box transcription factor 1 (HBP1), transcript variant 2, mRNA.	274	AXH.				cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TATCATTTGGCGAGTCTGTAC	0.368													T	106829793	C	T	106829793	2	4	128	1	0	0	0	0	0	0	0	1	7040	755	27	1		1	HBP1	7	106829793	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08	51607971	106829793	52308870	22	8594											
SLC30A8	169026	broad.mit.edu	37	chr8	118170045	118170045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatccaggcgactgtgatGatcatcgtttccagctgcgc	8	10	11	12	3	1	3	1	2	0	1	4	4	3	3	2	1	2	2	2	1	0	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr8:118170045G>A	uc003yoh.3	+	3	764	c.534G>A	c.(532-534)atG>atA	p.M178I	SLC30A8_uc010mcz.3_Missense_Mutation_p.M129I|SLC30A8_uc003yog.3_Missense_Mutation_p.M129I|SLC30A8_uc011lia.2_Missense_Mutation_p.M129I|SLC30A8_uc022bab.1_Missense_Mutation_p.M129I	NM_173851	NP_001166286	Q8IWU4	ZNT8_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 8 (SLC30A8), transcript variant 1, mRNA.	178					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			CGACTGTGATGATCATCGTTT	0.547													A	118170045	G	A	118170045	3	1	128	1	0	0	0	0	1	0	0	0	14655	1290	45	2	548	2	SLC30A8	8	118170045	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		118170045	28193977	23	8595											
ABO	28	broad.mit.edu	37	chr9	136136731	136136731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcactcaccagaacccccGttccaggcttcctggcatta	8	9	7	17	1	1	1	1	0	0	1	3	1	3	1	5	2	2	4	5	2	2	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr9:136136731G>A	uc004cda.1	-	2	170	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	ABO_uc010naf.1_5'UTR|ABO_uc011mcz.1_5'UTR|ABO_uc010nag.1_Intron	NM_020469	NP_065202	P16442	BGAT_HUMAN	Homo sapiens ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) (ABO), mRNA.	49					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		CAGAACCCCCGTTCCAGGCTT	0.607													A	136136731	G	A	136136731	3	1	128	1	0	0	0	0	1	0	0	0	97	1144	40	1	938	1	ABO	9	136136731	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		136136731	5076700	24	8596											
ITIH5	80760	broad.mit.edu	37	chr10	7679260	7679260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggatgcgatgcccgCgctctccaggatattcacgt	7	9	11	14	4	2	0	1	0	1	0	4	3	3	2	3	2	2	1	3	2	1	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:7679260C>T	uc021pmv.1	-	4	689	c.583G>A	c.(583-585)Gcg>Acg	p.A195T	ITIH5_uc001ijr.2_Missense_Mutation_p.A195T	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.A195V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GCGATGCCCGCGCTCTCCAGG	0.662													T	7679260	C	T	7679260	3	4	128	1	0	0	0	0	1	0	0	0	7965	768	27	1	2422	1	ITIH5	10	7679260	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		7679260	127855487	25	8597											
C10orf54	64115	broad.mit.edu	37	chr10	73521395	73521395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcaccatggaccctgtgCtccgagtggtggtgcctgat	6	10	14	11	1	0	1	0	1	0	0	1	3	1	2	4	4	2	2	4	4	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr10:73521395C>G	uc001jsd.3	-	1	612	c.471G>C	c.(469-471)gaG>gaC	p.E157D	CDH23_uc001jrx.4_Intron|C10orf54_uc001jse.3_Missense_Mutation_p.E25D	NM_022153	NP_071436	Q9H7M9	GI24_HUMAN	Homo sapiens chromosome 10 open reading frame 54 (C10orf54), mRNA.	157	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GGACCCTGTGCTCCGAGTGGT	0.617													G	73521395	C	G	73521395	3	3	128	1	0	0	0	0	1	0	0	0	1618	796	28	4	488	4	C10orf54	10	73521395	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	65842135	73521395	62013352	26	8598											
KCNQ1	3784	broad.mit.edu	37	chr11	2592573	2592573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agacctcatcgtggtcgtggCctccatggtggtcctctgcg	4	11	13	13	3	2	1	1	0	1	1	6	1	4	1	4	4	1	0	4	4	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:2592573C>T	uc001lwn.3	+	3	731	c.623C>T	c.(622-624)gCc>gTc	p.A208V	KCNQ1_uc009ydp.1_Intron|KCNQ1_uc001lwo.3_Missense_Mutation_p.A81V	NM_000218	NP_000209	P51787	KCNQ1_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 1 (KCNQ1), transcript variant 1, mRNA.	208					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound		delayed rectifier potassium channel activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)	21		all_epithelial(84;3.26e-05)|Breast(177;0.001)|Medulloblastoma(188;0.00111)|Ovarian(85;0.00158)|all_neural(188;0.00725)|all_lung(207;0.11)|Lung NSC(207;0.159)		BRCA - Breast invasive adenocarcinoma(625;0.00251)|Lung(200;0.131)	Bepridil(DB01244)|Indapamide(DB00808)	GTGGTCGTGGCCTCCATGGTG	0.652													T	2592573	C	T	2592573	3	4	128	1	0	0	0	0	1	0	0	0	8140	739	26	2	646	2	KCNQ1	11	2592573	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		2592573	132413943	27	8599											
LDHAL6A	160287	broad.mit.edu	37	chr11	18487327	18487327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattacccagtacagtcctCactgcaaactgcttattgtt	11	14	5	11	0	1	0	1	0	0	0	2	0	2	0	2	0	5	4	2	0	5	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:18487327C>G	uc001mop.1	+	3	649	c.388C>G	c.(388-390)Cac>Gac	p.H130D	LDHAL6A_uc001moq.2_Missense_Mutation_p.H130D	NM_001144071	NP_659409	Q6ZMR3	LDH6A_HUMAN	Homo sapiens lactate dehydrogenase A-like 6A (LDHAL6A), transcript variant 2, mRNA.	130					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			large_intestine(3)|lung(9)|urinary_tract(1)	13					NADH(DB00157)	GTACAGTCCTCACTGCAAACT	0.383													G	18487327	C	G	18487327	3	3	128	1	0	0	0	0	1	0	0	0	8758	826	29	4	398	4	LDHAL6A	11	18487327	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	15894754	18487327	116519189	28	8600											
ANO5	203859	broad.mit.edu	37	chr11	22215065	22215065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccggatctcctggaagtGttggcggaggaaggtaggac	9	7	17	8	2	1	0	0	0	1	0	2	6	1	5	2	7	0	2	2	7	3	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:22215065G>A	uc001mqi.2	+	0	344	c.27G>A	c.(25-27)gtG>gtA	p.V9V	ANO5_uc001mqj.2_Silent_p.V9V	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	9						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCCTGGAAGTGTTGGCGGAGG	0.667													A	22215065	G	A	22215065	2	1	128	1	0	0	0	0	0	0	0	1	700	1364	48	2		2	ANO5	11	22215065	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	3727738	22215065	112791451	29	8601											
CKAP5	9793	broad.mit.edu	37	chr11	46801800	46801800	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcttctcatcctcaaagaAcattcgcaaagagggaccaa	15	7	8	11	1	2	2	2	0	1	2	5	3	3	3	2	2	1	2	2	2	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:46801800A>G	uc001ndi.2	-	19	2503	c.2377T>C	c.(2377-2379)Ttc>Ctc	p.F793L	CKAP5_uc009ylg.1_Missense_Mutation_p.F679L|CKAP5_uc001ndj.2_Missense_Mutation_p.F793L|Metazoa_SRP_uc021qiq.1_5'Flank	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	793					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCCTCAAAGAACATTCGCAAA	0.428													G	46801800	A	G	46801800	3	3	128	1	0	0	0	0	1	0	0	0	3476	43	2	3	3821	3	CKAP5	11	46801800	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08	24586735	46801800	88204716	30	8602											
OR4C3	256144	broad.mit.edu	37	chr11	48346804	48346804	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcttcttctatggctccTaaactcattgctgactcatt	8	18	4	11	0	5	1	2	1	3	0	6	1	6	1	1	1	2	2	1	1	4	8			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:48346804T>C	uc010rhv.2	+	0	312	c.312T>C	c.(310-312)ccT>ccC	p.P104P		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						CTATGGCTCCTAAACTCATTG	0.463													C	48346804	T	C	48346804	2	2	128	1	0	0	0	0	0	0	0	1	11126	1509	53	3		3	OR4C3	11	48346804	Silent	SNP	T	TCGA-14-0786-01B-01D-1492-08	1545004	48346804	86659712	31	8603											
OR10V1	390201	broad.mit.edu	37	chr11	59480721	59480721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaagctgatgatatacaGagcagtcttgtgaacgcgtg	12	10	13	6	2	1	5	0	4	1	1	1	6	1	5	0	0	4	2	0	0	4	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr11:59480721G>A	uc001nof.1	-	0	598	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_001005324	NP_001005324	Q8NGI7	O10V1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily V, member 1 (OR10V1), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						ATGATATACAGAGCAGTCTTG	0.498													A	59480721	G	A	59480721	2	1	128	1	0	0	0	0	0	0	0	1	10996	933	33	2		2	OR10V1	11	59480721	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	11133917	59480721	75525795	32	8604											
USP15	9958	broad.mit.edu	37	chr12	62777954	62777954	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatcaactttagtttgTcctgagtgtgctaagatttc	10	17	7	7	0	2	2	2	1	0	1	4	2	3	2	1	0	2	2	1	0	4	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr12:62777954T>C	uc001src.2	+	10	1419	c.1344T>C	c.(1342-1344)tgT>tgC	p.C448C	USP15_uc001srb.2_Silent_p.C419C	NM_001252078	NP_001239007	Q9Y4E8	UBP15_HUMAN	Homo sapiens ubiquitin specific peptidase 15 (USP15), transcript variant 1, mRNA.	448					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.L447L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		CTTTAGTTTGTCCTGAGTGTG	0.358													C	62777954	T	C	62777954	2	2	128	1	0	0	0	0	0	0	0	1	17148	1673	58	3		3	USP15	12	62777954	Silent	SNP	T	TCGA-14-0786-01B-01D-1492-08		62777954	71073941	33	8605											
ADAM21	8747	broad.mit.edu	37	chr14	70926319	70926319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgactttcctgtttactgtCgggcttcttatgtatctacg	5	19	8	9	2	2	1	0	1	2	0	4	1	3	1	1	1	2	3	1	1	4	8	rs142273524	byFrequency	TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr14:70926319C>T	uc021rvq.1	+	0	2103	c.2103C>T	c.(2101-2103)gtC>gtT	p.V701V	ADAM21_uc001xmd.3_Silent_p.V701V	NM_003813	NP_003804	Q9UKJ8	ADA21_HUMAN	Homo sapiens ADAM metallopeptidase domain 21 (ADAM21), mRNA.	701					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TGTTTACTGTCGGGCTTCTTA	0.413													T	70926319	C	T	70926319	2	4	128	1	0	0	0	0	0	0	0	1	243	871	31	1		1	ADAM21	14	70926319	Silent	SNP	C	TCGA-14-0786-01B-01D-1492-08		70926319	36423221	34	8606											
ZDHHC1	29800	broad.mit.edu	37	chr16	67429021	67429021	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaaaagaagcagaggcgAgcgccagggtagaggcttct	12	4	15	10	3	1	3	0	0	1	3	1	4	1	3	2	3	2	3	2	3	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr16:67429021A>T	uc010vjm.2	-	9	1418	c.1114T>A	c.(1114-1116)Tcg>Acg	p.S372T	TPPP3_uc002etb.3_5'Flank|TPPP3_uc002eta.3_5'Flank	NM_013304	NP_037436	Q8WTX9	ZDHC1_HUMAN	Homo sapiens zinc finger, DHHC-type containing 1 (ZDHHC1), mRNA.	372						integral to membrane	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|urinary_tract(1)	10		Ovarian(137;0.223)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0178)|all cancers(182;5.71e-53)|Epithelial(162;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(108;1.53e-29)|Kidney(780;4.37e-05)|BRCA - Breast invasive adenocarcinoma(181;5.8e-05)|GBM - Glioblastoma multiforme(240;0.0022)		AGCAGAGGCGAGCGCCAGGGT	0.622													T	67429021	A	T	67429021	3	4	128	1	0	0	0	0	1	0	0	0	17701	304	11	5	351	5	ZDHHC1	16	67429021	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08		67429021	22925732	35	8607											
KRTAP3-3	85293	broad.mit.edu	37	chr17	39150169	39150169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcaggtgggcacgcAgggctgaggaatgtggcagg	10	4	20	7	1	0	1	0	1	0	0	0	3	0	3	0	7	1	5	0	7	2	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr17:39150169A>G	uc002hvr.1	-	0	217	c.181T>C	c.(181-183)Tgc>Cgc	p.C61R		NM_033185	NP_149441	Q9BYR6	KRA33_HUMAN	Homo sapiens keratin associated protein 3-3 (KRTAP3-3), mRNA.	61						keratin filament	structural molecule activity	p.C61C(1)		lung(2)|prostate(2)	4		Breast(137;0.00043)				GTGGGCACGCAGGGCTGAGGA	0.627													G	39150169	A	G	39150169	3	3	128	1	0	0	0	0	1	0	0	0	8606	188	7	3	119	3	KRTAP3-3	17	39150169	Missense_Mutation	SNP	A	TCGA-14-0786-01B-01D-1492-08		39150169	42045041	36	8608											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859874	6859874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggataaagaagggagttttgCggttcccaggagtgactctg	10	10	15	6	1	1	2	0	1	1	1	2	5	2	5	1	4	1	2	1	4	3	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr18:6859874C>T	uc002knc.3	+	4	3759	c.548C>T	c.(547-549)gCg>gTg	p.A183V	ARHGAP28_uc002kne.3_Missense_Mutation_p.A76V|ARHGAP28_uc010wzi.2_Missense_Mutation_p.A58V|ARHGAP28_uc002knf.3_Missense_Mutation_p.A67V	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	58					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GGGAGTTTTGCGGTTCCCAGG	0.433													T	6859874	C	T	6859874	3	4	128	1	0	0	0	0	1	0	0	0	880	768	27	1	237	1	ARHGAP28	18	6859874	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		6859874	71217374	37	8609											
ABCA7	10347	broad.mit.edu	37	chr19	1042173	1042173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggctgcacgcagcaCgggtgaggaggccggggggc	6	3	22	10	3	0	2	0	2	0	0	0	3	0	3	1	7	2	5	1	7	0	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:1042173C>T	uc002lqw.4	+	4	644	c.413C>T	c.(412-414)aCg>aTg	p.T138M	ABCA7_uc010dsb.1_5'Flank|ABCA7_uc010dsa.3_Missense_Mutation_p.T138M	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	138					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCACGCAGCACGGGTGAGGAG	0.692													T	1042173	C	T	1042173	3	4	128	1	0	0	0	0	1	0	0	0	37	536	19	1	427	1	ABCA7	19	1042173	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08		1042173	58086810	38	8610											
PPM1N	147699	broad.mit.edu	37	chr19	46003206	46003206	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctccaccggcttcaGggcagcctggacaacatgac	8	10	9	14	1	2	1	1	1	1	0	3	2	2	2	3	3	2	2	3	3	1	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:46003206G>C	uc002pce.3	+	2	940	c.940_splice	c.e2-1	p.G314_splice	RTN2_uc002pcb.3_5'Flank|RTN2_uc002pcc.3_5'Flank|RTN2_uc002pcd.3_5'Flank|PPM1N_uc002pcf.3_Splice_Site	NM_001080401	NP_001073870	Q8N819	PPM1N_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative) (PPM1N), mRNA.	314	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						ACCGGCTTCAGGGCAGCCTGG	0.607													C	46003206	G	C	46003206	5	2	128	1	0	0	0	0	0	0	1	0	12428	1014	35	4	945	4	PPM1N	19	46003206	Splice_Site	SNP	G	TCGA-14-0786-01B-01D-1492-08	44961033	46003206	13125777	39	8611											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56701423	56701423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggtggactcgtgggCgaaccgcttttggcagacgt	7	10	15	9	4	0	1	0	0	0	1	1	3	0	2	1	4	1	3	1	4	2	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr19:56701423C>T	uc010ygh.2	-	3	1261	c.1261G>A	c.(1261-1263)Gcc>Acc	p.A421T		NM_001080456	NP_001073925	A6NJL1	ZSA5B_HUMAN	Homo sapiens zinc finger and SCAN domain containing 5B (ZSCAN5B), mRNA.	421					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GACTCGTGGGCGAACCGCTTT	0.567													T	56701423	C	T	56701423	3	4	128	1	0	0	0	0	1	0	0	0	18336	768	27	1	230	1	ZSCAN5B	19	56701423	Missense_Mutation	SNP	C	TCGA-14-0786-01B-01D-1492-08	10698217	56701423	2427560	40	8612											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859635	31859635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatagcccagtctgcagaaGctgccacatccacagccgta	11	6	8	16	1	1	1	0	0	1	1	2	1	2	1	5	0	5	3	5	0	3	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:31859635G>T	uc011acy.2	-	0	33	c.33C>A	c.(31-33)agC>agA	p.S11R		NM_181608	NP_853639	Q3LHN2	KR192_HUMAN	Homo sapiens keratin associated protein 19-2 (KRTAP19-2), mRNA.	11						intermediate filament		p.G10S(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						GTCTGCAGAAGCTGCCACATC	0.572													T	31859635	G	T	31859635	3	4	128	1	0	0	0	0	1	0	0	0	8587	962	34	4	127	4	KRTAP19-2	21	31859635	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		31859635	16270260	41	8613											
TMPRSS3	64699	broad.mit.edu	37	chr21	43803237	43803237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgaaggctggcctgccaGggccactgcgagagcaagga	11	4	15	11	1	0	2	0	1	0	1	0	4	0	3	3	4	4	2	3	4	3	0			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr21:43803237G>A	uc002zbb.2	-	7	888	c.687C>T	c.(685-687)ccC>ccT	p.P229P	TMPRSS3_uc002zay.2_5'UTR|TMPRSS3_uc002zaz.2_Silent_p.P102P|TMPRSS3_uc002zba.2_Silent_p.P102P|TMPRSS3_uc002zbc.2_Silent_p.P229P|TMPRSS3_uc002zbd.3_Silent_p.P229P	NM_024022	NP_076927	P57727	TMPS3_HUMAN	Homo sapiens transmembrane protease, serine 3 (TMPRSS3), transcript variant A, mRNA.	229	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						TGGCCTGCCAGGGCCACTGCG	0.587													A	43803237	G	A	43803237	2	1	128	1	0	0	0	0	0	0	0	1	16348	987	35	2		2	TMPRSS3	21	43803237	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	11943602	43803237	4326658	42	8614											
C22orf24	25775	broad.mit.edu	37	chr22	32334001	32334001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctccaggtcttgacatggTccaaagacttgtcttttgat	8	14	9	10	1	2	3	0	2	2	1	4	3	4	3	2	2	0	1	2	2	1	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chr22:32334001T>C	uc003aly.3	-	1	219	c.52A>G	c.(52-54)Acc>Gcc	p.T18A	C22orf24_uc003alx.3_Non-coding_Transcript	NM_015372	NP_056187	Q9Y442	CV024_HUMAN	Homo sapiens chromosome 22 open reading frame 24 (C22orf24), mRNA.	18						integral to membrane				central_nervous_system(1)|urinary_tract(1)	2						CTTGACATGGTCCAAAGACTT	0.473													C	32334001	T	C	32334001	3	2	128	1	0	0	0	0	1	0	0	0	2159	1667	58	3	438	3	C22orf24	22	32334001	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08		32334001	18970565	43	8615											
NLGN4X	57502	broad.mit.edu	37	chrX	5811156	5811156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtgagcgatatcatttGtggtgtttctctggggactg	6	15	15	5	1	2	1	1	1	1	0	3	4	2	3	0	4	1	1	0	4	1	3			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:5811156G>T	uc010ndi.3	-	6	2728	c.2264C>A	c.(2263-2265)aCa>aAa	p.T755K	NLGN4X_uc004crp.3_Missense_Mutation_p.T738K|NLGN4X_uc010ndh.3_Missense_Mutation_p.T718K|NLGN4X_uc004crq.3_Missense_Mutation_p.T718K|NLGN4X_uc004crr.3_Missense_Mutation_p.T718K|NLGN4X_uc010ndj.3_Missense_Mutation_p.T718K	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	718					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GATATCATTTGTGGTGTTTCT	0.522													T	5811156	G	T	5811156	3	4	128	1	0	0	0	0	1	0	0	0	10540	1377	48	4	301	4	NLGN4X	23	5811156	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08		5811156	149459404	44	8616											
SSX3	10214	broad.mit.edu	37	chrX	48209558	48209558	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggcttcttgggcatgatCtttataatgtgaaggtcata	9	15	11	6	0	3	2	1	2	2	0	3	2	3	2	0	3	0	3	0	3	4	6			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48209558C>T	uc004djd.1	-	6	425	c.331_splice	c.e6-1	p.I111_splice	SSX3_uc004dje.3_Splice_Site_p.I111_splice	NM_021014	NP_066294	Q99909	SSX3_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 3 (SSX3), transcript variant 1, mRNA.	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|large_intestine(1)|lung(9)	13						TGGGCATGATCTTTATAATGT	0.433													T	48209558	C	T	48209558	5	4	128	1	0	0	0	0	0	0	1	0	15301	927	32	2	295	2	SSX3	23	48209558	Splice_Site	SNP	C	TCGA-14-0786-01B-01D-1492-08	42398402	48209558	107061002	45	8617											
KCND1	3750	broad.mit.edu	37	chrX	48822565	48822565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaggcggatggcgcggcGcttggccctgcgagggcagc	5	4	20	12	5	0	0	0	0	0	0	0	2	0	1	1	7	2	3	1	7	1	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:48822565G>A	uc004dlx.1	-	4	3188	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	KCND1_uc004dlw.1_Missense_Mutation_p.R162C	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	539						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ATGGCGCGGCGCTTGGCCCTG	0.682													A	48822565	G	A	48822565	3	1	128	1	0	0	0	0	1	0	0	0	8076	1087	38	1	336	1	KCND1	23	48822565	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	613007	48822565	106447995	46	8618											
KIAA1210	57481	broad.mit.edu	37	chrX	118222577	118222577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagggtgtctgagaggcagGtcttcctctgagctgctgca	6	10	15	10	0	3	2	0	2	3	1	4	3	4	2	1	3	3	5	1	3	0	1			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:118222577G>A	uc004era.4	-	10	2616	c.2616C>T	c.(2614-2616)gaC>gaT	p.D872D		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	872										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TGAGAGGCAGGTCTTCCTCTG	0.448													A	118222577	G	A	118222577	2	1	128	1	0	0	0	0	0	0	0	1	8272	1252	44	2		2	KIAA1210	23	118222577	Silent	SNP	G	TCGA-14-0786-01B-01D-1492-08	69400012	118222577	37047983	47	8619											
MAGEC2	51438	broad.mit.edu	37	chrX	141291256	141291256	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaaagtaatctttgtacTtgatgacaatcatcagcatc	14	12	7	8	0	3	2	2	2	1	0	4	3	3	3	0	1	2	3	0	1	4	4			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:141291256T>G	uc022cfj.1	-	0	518	c.518A>C	c.(517-519)aAg>aCg	p.K173T	MAGEC2_uc004fbu.2_Missense_Mutation_p.K173T	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	173	MAGE.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTTGTACTTGATGACAAT	0.478										HNSCC(46;0.14)			G	141291256	T	G	141291256	3	3	128	1	0	0	0	0	1	0	0	0	9256	1609	56	5	607	5	MAGEC2	23	141291256	Missense_Mutation	SNP	T	TCGA-14-0786-01B-01D-1492-08	23068679	141291256	13979304	48	8620											
MAGEA6	4105	broad.mit.edu	37	chrX	151870086	151870086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactacctggagtaccGgcaggtccccggcagtgatc	10	6	13	12	2	0	1	0	1	0	0	2	3	1	3	4	5	3	3	4	5	4	2			TCGA-14-0786-01B-01D-1492-08	TCGA-14-0786-10A-01D-1492-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75fa4de1-29fd-4b54-b63a-add459f1d69c	c5e922d3-306a-4b3a-b05f-a75f05af3200	g.chrX:151870086G>A	uc022chf.1	+	0	776	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	MAGEA6_uc004ffq.1_Missense_Mutation_p.R259Q|MAGEA6_uc004ffr.1_Missense_Mutation_p.R259Q	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	259	MAGE.						protein binding	p.R259Q(2)|p.R259R(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522													A	151870086	G	A	151870086	3	1	128	1	0	0	0	0	1	0	0	0	9243	1116	39	1	778	1	MAGEA6	23	151870086	Missense_Mutation	SNP	G	TCGA-14-0786-01B-01D-1492-08	10578830	151870086	3400474	49	8621											
MRTO4	51154	broad.mit.edu	37	chr1	19584431	19584431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagttcccccactccaTggagccacagctcaggcagc	9	5	11	16	0	1	0	1	0	0	0	3	2	3	2	4	3	4	4	4	3	0	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:19584431T>G	uc001bbs.3	+	5	701	c.446T>G	c.(445-447)aTg>aGg	p.M149R		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	149					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCACTCCATGGAGCCACAG	0.597													G	19584431	T	G	19584431	3	3	129	1	0	0	0	0	1	0	0	0	9928	1464	51	5	468	5	MRTO4	1	19584431	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08		19584431	229666190	1	8622											
SF3A3	10946	broad.mit.edu	37	chr1	38435290	38435290	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggttgtaaatgatctCgttctcttcatcttcactct	6	19	7	9	1	6	1	2	1	4	0	8	1	6	1	0	2	0	3	0	2	2	6			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:38435290C>A	uc001cci.3	-	12	1247	c.1123G>T	c.(1123-1125)Gag>Tag	p.E375*	SF3A3_uc010oik.2_Nonsense_Mutation_p.E322*	NM_006802	NP_006793	Q12874	SF3A3_HUMAN	Homo sapiens splicing factor 3a, subunit 3, 60kDa (SF3A3), mRNA.	375					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TAAATGATCTCGTTCTCTTCA	0.468													A	38435290	C	A	38435290	4	1	129	1	0	0	0	0	0	1	0	0	14241	893	31	4	402	4	SF3A3	1	38435290	Nonsense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	18850859	38435290	210815331	2	8623											
HMCN1	83872	broad.mit.edu	37	chr1	186099788	186099788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaattagccacagaatcCggcaactgggcaatggctcc	12	8	10	11	1	0	2	0	1	0	1	2	2	2	2	3	3	2	3	3	3	5	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:186099788C>T	uc001grq.1	+	84	13418	c.13189C>T	c.(13189-13191)Cgg>Tgg	p.R4397W	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4397	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCACAGAATCCGGCAACTGGG	0.507													T	186099788	C	T	186099788	3	4	129	1	0	0	0	0	1	0	0	0	7275	643	23	1	13527	1	HMCN1	1	186099788	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	147664498	186099788	63150833	3	8624											
DENND1B	163486	broad.mit.edu	37	chr1	197522236	197522236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagttttgccagtcgaccatCgataaactagaattaaaaag	16	11	7	7	2	0	1	0	0	0	1	2	3	0	1	2	0	2	1	2	0	8	6			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:197522236C>T	uc021pgu.1	-	15	1494	c.1156G>A	c.(1156-1158)Gat>Aat	p.D386N	DENND1B_uc010ppf.2_Intron|DENND1B_uc001guf.3_Missense_Mutation_p.D386N|DENND1B_uc001gue.3_Missense_Mutation_p.D356N	NM_001195215	NP_001182144	Q6P3S1	DEN1B_HUMAN	Homo sapiens DENN/MADD domain containing 1B (DENND1B), transcript variant 3, mRNA.	386	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						AGTCGACCATCGATAAACTAG	0.303													T	197522236	C	T	197522236	3	4	129	1	0	0	0	0	1	0	0	0	4466	884	31	1	1244	1	DENND1B	1	197522236	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	11422448	197522236	51728385	4	8625											
RYR2	6262	broad.mit.edu	37	chr1	237791221	237791221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctccatcggcagtatgacgGcattgggggtcttgttcggg	5	11	16	9	3	1	1	0	1	1	0	4	1	2	1	1	5	0	5	1	5	1	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr1:237791221G>A	uc001hyl.1	+	40	6401	c.6281G>A	c.(6280-6282)gGc>gAc	p.G2094D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2094	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAGTATGACGGCATTGGGGGT	0.557													A	237791221	G	A	237791221	3	1	129	1	0	0	0	0	1	0	0	0	13860	1203	42	2	6443	2	RYR2	1	237791221	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	40268985	237791221	11459400	5	8626											
VPS54	51542	broad.mit.edu	37	chr2	64147109	64147109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacatctgcttgcttccagCgctcattgtctaagaggagg	9	11	11	10	1	3	1	1	0	2	1	4	3	4	2	1	2	4	3	1	2	2	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:64147109C>T	uc002scq.3	-	14	2235	c.2072G>A	c.(2071-2073)cGc>cAc	p.R691H	VPS54_uc002scp.3_Missense_Mutation_p.R679H|VPS54_uc002scn.3_5'UTR|VPS54_uc002sco.3_Missense_Mutation_p.R176H|VPS54_uc010fct.3_Missense_Mutation_p.R538H	NM_016516	NP_057600	Q9P1Q0	VPS54_HUMAN	Homo sapiens vacuolar protein sorting 54 homolog (S. cerevisiae) (VPS54), transcript variant 1, mRNA.	691					protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTGCTTCCAGCGCTCATTGTC	0.393													T	64147109	C	T	64147109	3	4	129	1	0	0	0	0	1	0	0	0	17318	768	27	1	897	1	VPS54	2	64147109	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		64147109	179052264	6	8627											
RGPD4	285190	broad.mit.edu	37	chr2	108455386	108455386	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaaagagcagcaaaacTtttcccaggaagtcctgcaa	14	7	11	9	0	0	1	0	0	0	1	2	3	2	3	2	3	4	3	2	3	5	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:108455386T>A	uc010ywk.2	+	3	453	c.371T>A	c.(370-372)cTt>cAt	p.L124H	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	124					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGCAAAACTTTTCCCAGGA	0.333													A	108455386	T	A	108455386	3	1	129	1	0	0	0	0	1	0	0	0	13376	1609	56	5	385	5	RGPD4	2	108455386	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08	44308277	108455386	134743987	7	8628											
GTDC1	79712	broad.mit.edu	37	chr2	144765034	144765034	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagggccatggacagaAccgcaccgccatttccttta	12	7	10	12	2	0	1	0	0	0	1	1	3	1	3	5	3	1	1	5	3	4	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:144765034A>T	uc002tvp.3	-	6	869	c.590T>A	c.(589-591)gTt>gAt	p.V197D	GTDC1_uc002tvo.3_Missense_Mutation_p.V197D|GTDC1_uc021vqf.1_Missense_Mutation_p.V197D|GTDC1_uc010fnn.3_Missense_Mutation_p.V197D|GTDC1_uc002tvs.3_Missense_Mutation_p.V165D|GTDC1_uc021vqg.1_Intron|GTDC1_uc002tvr.3_Missense_Mutation_p.V197D|GTDC1_uc010fno.3_Missense_Mutation_p.V68D|GTDC1_uc002tvt.2_Missense_Mutation_p.V197D	NM_001006636	NP_001158101	Q4AE62	GTDC1_HUMAN	Homo sapiens glycosyltransferase-like domain containing 1 (GTDC1), transcript variant 1, mRNA.	197					biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		CATGGACAGAACCGCACCGCC	0.403													T	144765034	A	T	144765034	3	4	129	1	0	0	0	0	1	0	0	0	6906	43	2	5	810	5	GTDC1	2	144765034	Missense_Mutation	SNP	A	TCGA-14-0787-01A-01W-0424-08	36309648	144765034	98434339	8	8629											
ALS2CR11	151254	broad.mit.edu	37	chr2	202401017	202401017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaaagttggtatagtcagGcctttctcagaatcattatc	11	15	7	8	0	4	1	4	0	1	1	6	1	4	1	1	2	0	2	1	2	5	6			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202401017G>A	uc002uyf.3	-	12	1285	c.1233C>T	c.(1231-1233)ggC>ggT	p.G411G	ALS2CR11_uc002uye.3_Silent_p.G411G|ALS2CR11_uc010fti.3_Intron|ALS2CR11_uc021vvc.1_Silent_p.G411G	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	411										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						GTATAGTCAGGCCTTTCTCAG	0.338													A	202401017	G	A	202401017	2	1	129	1	0	0	0	0	0	0	0	1	552	1190	42	2		2	ALS2CR11	2	202401017	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08	57635983	202401017	40798356	9	8630											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483675	202483675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttcttaggcagggccGtcgtgccctggttcagggcg	3	12	15	11	3	3	0	1	0	2	0	4	0	3	0	2	4	1	3	2	4	1	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:202483675G>A	uc002uyf.3	-	0	231	c.179C>T	c.(178-180)aCg>aTg	p.T60M	ALS2CR11_uc002uye.3_Missense_Mutation_p.T60M|ALS2CR11_uc010fti.3_Missense_Mutation_p.T60M|ALS2CR11_uc021vvc.1_Missense_Mutation_p.T60M	NM_001168221	NP_001161693	Q53TS8	AL2SA_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11 (ALS2CR11), transcript variant 1, mRNA.	60										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGGCAGGGCCGTCGTGCCCTG	0.642													A	202483675	G	A	202483675	3	1	129	1	0	0	0	0	1	0	0	0	552	1145	40	1	5494	1	ALS2CR11	2	202483675	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	82658	202483675	40715698	10	8631											
FAM124B	79843	broad.mit.edu	37	chr2	225266256	225266256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatagcctatcctctcccGggctttcgtgcaggaagagc	9	9	11	12	2	1	1	0	0	1	1	4	3	2	2	3	2	3	2	3	2	4	3	rs149161165	by1000genomes	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:225266256G>A	uc002vnx.3	-	0	456	c.230C>T	c.(229-231)cCg>cTg	p.P77L	FAM124B_uc002vnw.3_Missense_Mutation_p.P77L	NM_001122779	NP_001116251	Q9H5Z6	F124B_HUMAN	Homo sapiens family with sequence similarity 124B (FAM124B), transcript variant 1, mRNA.	77							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		ATCCTCTCCCGGGCTTTCGTG	0.572													A	225266256	G	A	225266256	3	1	129	1	0	0	0	0	1	0	0	0	5471	1116	39	1	1236	1	FAM124B	2	225266256	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	22782581	225266256	17933117	11	8632											
ANO7	50636	broad.mit.edu	37	chr2	242142864	242142864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccagcccctggaccaCgtgcgcaggtacttcgggga	9	6	13	13	3	0	0	0	0	0	0	1	2	0	2	4	4	4	3	4	4	3	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr2:242142864C>T	uc002wax.2	+	8	1105	c.1002C>T	c.(1000-1002)caC>caT	p.H334H		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	334						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCCTGGACCACGTGCGCAGGT	0.692													T	242142864	C	T	242142864	2	4	129	1	0	0	0	0	0	0	0	1	702	535	19	1		1	ANO7	2	242142864	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	16876608	242142864	1056509	12	8633											
FRYL	285527	broad.mit.edu	37	chr4	48569356	48569356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttcattttctgcttcCaggagttgtctagttaaatc	7	20	6	8	0	4	0	1	0	3	0	6	1	5	1	1	1	1	3	1	1	3	8			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:48569356C>T	uc003gyh.1	-	27	3683	c.3078G>A	c.(3076-3078)ctG>ctA	p.L1026L	FRYL_uc003gyk.3_Silent_p.L1026L|FRYL_uc003gyi.1_5'Flank	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1026					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TTTCTGCTTCCAGGAGTTGTC	0.343													T	48569356	C	T	48569356	2	4	129	1	0	0	0	0	0	0	0	1	6116	581	21	2		2	FRYL	4	48569356	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		48569356	142584920	13	8634											
USO1	8615	broad.mit.edu	37	chr4	76722293	76722293	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaagaagaagaggtgaaAaaaacattagaacagcatga	25	4	9	3	0	0	6	0	2	0	4	0	6	0	6	0	1	3	1	0	1	10	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr4:76722293A>G	uc003hiu.3	+	15	1948	c.1773A>G	c.(1771-1773)aaA>aaG	p.K591K	USO1_uc003hiv.3_Silent_p.K484K|USO1_uc003hiw.3_Silent_p.K477K	NM_003715	NP_003706	O60763	USO1_HUMAN	Homo sapiens USO1 vesicle docking protein homolog (yeast) (USO1), mRNA.	642	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAGAGGTGAAAAAAACATTAG	0.294													G	76722293	A	G	76722293	2	3	129	1	0	0	0	0	0	0	0	1	17141	11	1	3		3	USO1	4	76722293	Silent	SNP	A	TCGA-14-0787-01A-01W-0424-08	28152937	76722293	114431983	14	8635											
VCAN	1462	broad.mit.edu	37	chr5	82849273	82849273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatgggatgcagctgaacGggaatgccgtctgcagggtg	9	7	16	9	2	1	1	0	1	1	0	1	3	1	3	1	3	5	3	1	3	2	0	rs145625752		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:82849273G>A	uc003kii.3	+	10	9940	c.9584G>A	c.(9583-9585)cGg>cAg	p.R3195Q	VCAN_uc003kij.3_Missense_Mutation_p.R2208Q|VCAN_uc010jau.2_Missense_Mutation_p.R1441Q|VCAN_uc003kik.3_Missense_Mutation_p.R454Q|VCAN_uc003kil.3_Missense_Mutation_p.R1859Q	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	3195	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCAGCTGAACGGGAATGCCGT	0.473													A	82849273	G	A	82849273	3	1	129	1	0	0	0	0	1	0	0	0	17240	1116	39	1	9622	1	VCAN	5	82849273	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		82849273	98065987	15	8636											
FAT2	2196	broad.mit.edu	37	chr5	150922879	150922879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccaacacctggataacCggagagtctttactgacatt	12	10	9	10	1	1	2	0	1	1	1	1	4	1	3	3	3	3	0	3	3	4	5			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:150922879C>T	uc003lue.4	-	8	7822	c.7809G>A	c.(7807-7809)ccG>ccA	p.P2603P		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2603	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTGGATAACCGGAGAGTCTT	0.443													T	150922879	C	T	150922879	2	4	129	1	0	0	0	0	0	0	0	1	5739	639	23	1		1	FAT2	5	150922879	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	68073606	150922879	29992381	16	8637											
HK3	3101	broad.mit.edu	37	chr5	176314737	176314737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactgtcccctgcaggaCgctgcagaacctacagatac	11	7	8	15	1	1	2	1	0	0	2	2	3	2	3	3	1	5	3	3	1	3	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr5:176314737C>T	uc003mfa.3	-	10	1407	c.1315G>A	c.(1315-1317)Gtc>Atc	p.V439I	HK3_uc003mez.3_5'UTR	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	439	Regulatory.			V -> I (in Ref. 4; AAC50422).	glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCTGCAGGACGCTGCAGAAC	0.622													T	176314737	C	T	176314737	3	4	129	1	0	0	0	0	1	0	0	0	7247	536	19	1	1492	1	HK3	5	176314737	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	25391858	176314737	4600523	17	8638											
CARD11	84433	broad.mit.edu	37	chr7	2963984	2963984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagggtccgaaggagtagCgttcgtgactgtcatctgca	9	9	15	8	3	2	1	1	1	1	0	4	4	3	3	1	3	2	3	1	3	2	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:2963984C>T	uc003smv.3	-	14	2157	c.1823G>A	c.(1822-1824)cGc>cAc	p.R608H		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	608					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GAAGGAGTAGCGTTCGTGACT	0.642			Mis		DLBCL								T	2963984	C	T	2963984	3	4	129	1	0	0	0	0	1	0	0	0	2671	768	27	1	1685	1	CARD11	7	2963984	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		2963984	156174679	18	8639											
PON1	5446	broad.mit.edu	37	chr7	95019499	95019499	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagcccactaggaagtatAtcaatatcttcagagccact	13	9	7	12	0	3	1	2	0	1	1	3	2	3	2	3	1	2	1	3	1	6	5			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:95019499A>G	uc003unt.3	-	2	193	c.168T>C	c.(166-168)gaT>gaC	p.D56D	PON1_uc011kih.2_Intron|PON1_uc011kii.2_Silent_p.D56D	NM_000940	NP_000931	P27169	PON1_HUMAN	Homo sapiens paraoxonase 3 (PON3), mRNA.	56					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TAGGAAGTATATCAATATCTT	0.378													G	95019499	A	G	95019499	2	3	129	1	0	0	0	0	0	0	0	1	12325	446	16	3		3	PON1	7	95019499	Silent	SNP	A	TCGA-14-0787-01A-01W-0424-08	92055515	95019499	64119164	19	8640											
PLXNA4	91584	broad.mit.edu	37	chr7	131872361	131872361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcttcagatctgagagagtCagtgtctgtgtagaaaggat	11	11	14	5	0	4	4	2	1	2	3	4	6	4	5	0	2	0	2	0	2	2	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:131872361C>T	uc003vra.4	-	14	3091	c.2862G>A	c.(2860-2862)ctG>ctA	p.L954L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	954	IPT/TIG 2.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGAGAGAGTCAGTGTCTGTG	0.617													T	131872361	C	T	131872361	2	4	129	1	0	0	0	0	0	0	0	1	12199	813	29	2		2	PLXNA4	7	131872361	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	36852862	131872361	27266302	20	8641											
SSPO	23145	broad.mit.edu	37	chr7	149493732	149493732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggactccgctgtgccaGtggtgagtgtgtcctgagag	5	11	17	8	1	0	2	0	2	0	1	2	4	2	3	3	3	1	2	3	3	0	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr7:149493732G>T	uc010lpk.3	+	44	6719	c.6719G>T	c.(6718-6720)aGt>aTt	p.S2240I		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2243	LDL-receptor class A 8.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGCTGTGCCAGTGGTGAGTGT	0.652													T	149493732	G	T	149493732	3	4	129	1	0	0	0	0	1	0	0	0	15285	1029	36	4	6902	4	SSPO	7	149493732	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	17621371	149493732	9644931	21	8642											
WDR67	93594	broad.mit.edu	37	chr8	124109565	124109565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggcaagtcaaatcatcttCatttgtggtgcttggaagct	10	13	11	7	0	4	0	3	0	1	0	4	2	4	1	0	3	2	3	0	3	3	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr8:124109565C>T	uc003ypp.2	+	5	805	c.715C>T	c.(715-717)Cat>Tat	p.H239Y	WDR67_uc011lig.2_Missense_Mutation_p.H239Y|WDR67_uc011lih.2_Missense_Mutation_p.H129Y|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003ypo.1_Missense_Mutation_p.H239Y|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	239						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			AAATCATCTTCATTTGTGGTG	0.423													T	124109565	C	T	124109565	3	4	129	1	0	0	0	0	1	0	0	0	17420	826	29	2	737	2	WDR67	8	124109565	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		124109565	22254457	22	8643											
INPP5E	56623	broad.mit.edu	37	chr9	139327520	139327520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtggtcaccgtggagcaCtccacctctgtgggaggggc	5	8	16	12	2	2	0	1	0	1	0	3	2	3	2	3	5	1	1	3	5	0	0			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr9:139327520C>G	uc004cho.3	-	4	1552	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D	INPP5E_uc010nbm.3_Missense_Mutation_p.E389D	NM_019892	NP_063945	Q9NRR6	INP5E_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 72 kDa (INPP5E), mRNA.	389						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		CCGTGGAGCACTCCACCTCTG	0.627													G	139327520	C	G	139327520	3	3	129	1	0	0	0	0	1	0	0	0	7815	564	20	4	791	4	INPP5E	9	139327520	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		139327520	1885911	23	8644											
KCNK18	338567	broad.mit.edu	37	chr10	118957199	118957199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttggaggagctctgcaGaatcttgaactgcagtgaaa	11	11	12	7	0	3	3	0	2	3	1	3	5	3	5	0	2	4	4	0	2	3	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:118957199G>T	uc010qsr.2	+	0	200	c.200G>T	c.(199-201)aGa>aTa	p.R67I		NM_181840	NP_862823	Q7Z418	KCNKI_HUMAN	Homo sapiens potassium channel, subfamily K, member 18 (KCNK18), mRNA.	67						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		GAGCTCTGCAGAATCTTGAAC	0.582													T	118957199	G	T	118957199	3	4	129	1	0	0	0	0	1	0	0	0	8123	942	33	4	202	4	KCNK18	10	118957199	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		118957199	16577548	24	8645											
TIAL1	7073	broad.mit.edu	37	chr10	121341480	121341480	+	Frame_Shift_Del	DEL	T	T	-																															tgatttgatatcttctgttgTaatttctggactcaaatccc																										TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr10:121341480delT	uc001lei.1	-	4	889	c.325delA	c.(325-327)acafs	p.T109fs	TIAL1_uc001leh.1_Frame_Shift_Del_p.T87fs|TIAL1_uc001lej.1_Frame_Shift_Del_p.T126fs|TIAL1_uc001lek.1_5'UTR|TIAL1_uc010qtb.1_5'UTR	NM_003252	NP_003243	Q01085	TIAR_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein-like 1 (TIAL1), transcript variant 1, mRNA.	109	RRM 2.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		TCTTCTGTTGTAATTTCTGGA	0.348													-	121341480	T	-	121341480	7	5	129	1	0	1	0	1	0	0	0	0	15989	1638	57	0	834	0	TIAL1	10	121341480	Frame_Shift_Del	DEL	T	TCGA-14-0787-01A-01W-0424-08	2384281	121341480	14193267	25	8646											
DCHS1	8642	broad.mit.edu	37	chr11	6647232	6647232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctacgtggaacaatccaCgtgccggctgggatgcagcc	8	7	14	12	3	1	0	0	0	1	0	2	2	2	2	3	4	5	2	3	4	3	1	rs149822394		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:6647232C>T	uc001mem.1	-	16	7051	c.6650G>A	c.(6649-6651)cGt>cAt	p.R2217H		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2217	Cadherin 21.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAACAATCCACGTGCCGGCTG	0.602													T	6647232	C	T	6647232	3	4	129	1	0	0	0	0	1	0	0	0	4321	536	19	1	3266	1	DCHS1	11	6647232	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		6647232	128359284	26	8647											
OR8J3	81168	broad.mit.edu	37	chr11	55904448	55904448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattgtcccatagaaaacCgtgactgctatcatatgcga	13	10	8	10	2	1	2	1	1	0	1	2	3	2	2	2	0	4	2	2	0	5	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:55904448C>T	uc010riz.2	-	0	747	c.747G>A	c.(745-747)acG>acA	p.T249T		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T249T(4)|p.T249K(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					CATAGAAAACCGTGACTGCTA	0.398													T	55904448	C	T	55904448	2	4	129	1	0	0	0	0	0	0	0	1	11318	639	23	1		1	OR8J3	11	55904448	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08	49257216	55904448	79102068	27	8648											
GIF	2694	broad.mit.edu	37	chr11	59610023	59610023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgccaagatcgctagactgGgcccatagaaggctgatgct	10	8	13	10	1	0	4	0	1	0	3	1	4	0	4	2	2	2	3	2	2	4	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr11:59610023G>T	uc001noi.3	-	3	452	c.404C>A	c.(403-405)cCc>cAc	p.P135H	GIF_uc010rkz.1_3'UTR	NM_005142	NP_005133	P27352	IF_HUMAN	Homo sapiens gastric intrinsic factor (vitamin B synthesis) (GIF), mRNA.	135					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	p.G134E(1)		large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CGCTAGACTGGGCCCATAGAA	0.562													T	59610023	G	T	59610023	3	4	129	1	0	0	0	0	1	0	0	0	6432	1232	43	4	873	4	GIF	11	59610023	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	3705575	59610023	75396493	28	8649											
SCNN1A	6337	broad.mit.edu	37	chr12	6464465	6464465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgatggaggtctccacGccaggccgcaagttaaagcc	10	7	12	12	2	1	1	0	1	1	0	2	2	1	2	4	3	2	3	4	3	3	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:6464465G>A	uc001qnw.3	-	4	1557	c.1293C>T	c.(1291-1293)ggC>ggT	p.G431G	SCNN1A_uc001qnv.3_Silent_p.G72G|SCNN1A_uc001qnx.3_Silent_p.G372G|SCNN1A_uc010sfb.2_Silent_p.G395G	NM_001159576	NP_001029	P37088	SCNNA_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1 alpha (SCNN1A), transcript variant 2, mRNA.	372					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	AGGTCTCCACGCCAGGCCGCA	0.612													A	6464465	G	A	6464465	2	1	129	1	0	0	0	0	0	0	0	1	14020	1074	38	1		1	SCNN1A	12	6464465	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08		6464465	127387430	29	8650											
MYO1A	4640	broad.mit.edu	37	chr12	57424856	57424856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagagctgctgcagctcctGatttgctgtgctgaggcact	7	11	13	10	0	0	3	0	2	0	1	1	4	1	3	1	1	6	7	1	1	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:57424856G>C	uc001smw.4	-	22	2692	c.2452C>G	c.(2452-2454)Cag>Gag	p.Q818E	MYO1A_uc010sqz.2_Missense_Mutation_p.Q656E|MYO1A_uc009zpd.3_Missense_Mutation_p.Q818E	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	818					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TGCAGCTCCTGATTTGCTGTG	0.517													C	57424856	G	C	57424856	3	2	129	1	0	0	0	0	1	0	0	0	10144	1299	45	4	703	4	MYO1A	12	57424856	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	50960391	57424856	76427039	30	8651											
NAV3	89795	broad.mit.edu	37	chr12	78574731	78574731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcctactcggccaccGtcagaatcctcaagcagcac	11	6	8	16	2	2	1	2	0	0	1	4	1	3	1	4	1	4	3	4	1	4	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr12:78574731G>A	uc001syp.3	+	29	5771	c.5598G>A	c.(5596-5598)ccG>ccA	p.P1866P	NAV3_uc001syo.3_Silent_p.P1844P|NAV3_uc010sub.2_Silent_p.P1323P|NAV3_uc009zsf.3_Silent_p.P675P	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	1866						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCGGCCACCGTCAGAATCCT	0.433										HNSCC(70;0.22)			A	78574731	G	A	78574731	2	1	129	1	0	0	0	0	0	0	0	1	10261	1132	40	1		1	NAV3	12	78574731	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08	21149875	78574731	55277164	31	8652											
OR4N2	390429	broad.mit.edu	37	chr14	20296487	20296487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacccttcgcaaccaggaaGtgaaagcttccatgaaaaag	16	7	8	10	1	0	2	0	2	0	0	2	3	1	3	3	1	3	2	3	1	6	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:20296487G>A	uc010tkv.2	+	0	880	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	294					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAACCAGGAAGTGAAAGCTTC	0.383													A	20296487	G	A	20296487	3	1	129	1	0	0	0	0	1	0	0	0	11153	1029	36	2	882	2	OR4N2	14	20296487	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		20296487	87053053	32	8653											
CLEC14A	161198	broad.mit.edu	37	chr14	38723845	38723845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccgactttcaccccattGtttgtgcaatgtgcagaact	8	13	7	13	1	1	1	1	0	0	1	2	2	2	1	4	0	3	3	4	0	2	3			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:38723845G>T	uc001wum.1	-	0	1730	c.1383C>A	c.(1381-1383)aaC>aaA	p.N461K		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	461						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TCACCCCATTGTTTGTGCAAT	0.607													T	38723845	G	T	38723845	3	4	129	1	0	0	0	0	1	0	0	0	3530	1368	48	4	93	4	CLEC14A	14	38723845	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	18427358	38723845	68625695	33	8654											
PYGL	5836	broad.mit.edu	37	chr14	51387718	51387718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgagcagaccagaggCgcatggtgttgacagtgtta	9	8	15	9	2	0	3	0	1	0	2	0	4	0	3	2	2	2	4	2	2	1	2			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:51387718C>T	uc001wyu.3	-	5	855	c.728G>A	c.(727-729)cGc>cAc	p.R243H	PYGL_uc010tqq.2_Missense_Mutation_p.R209H|PYGL_uc010anz.1_Missense_Mutation_p.R46H	NM_002863	NP_002854	P06737	PYGL_HUMAN	Homo sapiens phosphorylase, glycogen, liver (PYGL), transcript variant 1, mRNA.	243					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGACCAGAGGCGCATGGTGTT	0.502													T	51387718	C	T	51387718	3	4	129	1	0	0	0	0	1	0	0	0	12949	768	27	1	1875	1	PYGL	14	51387718	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	12663873	51387718	55961822	34	8655											
SMOC1	64093	broad.mit.edu	37	chr14	70442486	70442486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtcaccccggatgggaagCccatcagtggctcttctgtg	6	10	13	12	1	4	0	2	0	2	0	4	2	4	2	3	3	1	1	3	3	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr14:70442486C>A	uc001xlt.2	+	3	715	c.433C>A	c.(433-435)Ccc>Acc	p.P145T	SMOC1_uc001xls.2_Missense_Mutation_p.P145T	NM_001034852	NP_001030024	Q9H4F8	SMOC1_HUMAN	Homo sapiens SPARC related modular calcium binding 1 (SMOC1), transcript variant 1, mRNA.	145	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GGATGGGAAGCCCATCAGTGG	0.517													A	70442486	C	A	70442486	3	1	129	1	0	0	0	0	1	0	0	0	14895	739	26	4	447	4	SMOC1	14	70442486	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	19054768	70442486	36907054	35	8656											
C15orf2	23742	broad.mit.edu	37	chr15	24921536	24921536	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcgaaggggaggatgaCgagaaaaggaccccccttag	14	4	14	9	2	0	3	0	1	0	2	1	8	0	6	3	4	0	0	3	4	4	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr15:24921536C>T	uc001ywo.3	+	0	996	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	174					cell differentiation|multicellular organismal development|spermatogenesis			p.D174D(4)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		GGGAGGATGACGAGAAAAGGA	0.622													T	24921536	C	T	24921536	2	4	129	1	0	0	0	0	0	0	0	1	1797	535	19	1		1	C15orf2	15	24921536	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		24921536	77609856	36	8657											
SEC14L5	9717	broad.mit.edu	37	chr16	5046964	5046964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggcgcaagcagcaccagGtggatctcctccttcagacc	8	7	11	15	1	2	1	1	0	1	1	4	2	3	2	4	3	2	4	4	3	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:5046964G>A	uc002cye.2	+	7	1069	c.889G>A	c.(889-891)Gtg>Atg	p.V297M		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	297						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GCAGCACCAGGTGGATCTCCT	0.612													A	5046964	G	A	5046964	3	1	129	1	0	0	0	0	1	0	0	0	14078	1261	44	2	915	2	SEC14L5	16	5046964	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08		5046964	85307789	37	8658											
ZFP90	146198	broad.mit.edu	37	chr16	68596966	68596966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactggaagaccaggcctgaAgtcaaatcatcacatttgca	14	8	9	10	0	3	2	3	1	0	1	3	4	3	3	2	2	1	1	2	2	3	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr16:68596966A>T	uc010cff.3	+	4	568	c.276A>T	c.(274-276)gaA>gaT	p.E92D	ZFP90_uc002ewb.3_5'UTR|ZFP90_uc002ewc.3_5'UTR|ZFP90_uc002ewd.3_Missense_Mutation_p.E92D|ZFP90_uc002ewe.3_Missense_Mutation_p.E92D	NM_133458	NP_597715	Q8TF47	ZFP90_HUMAN	Homo sapiens zinc finger protein 90 homolog (mouse) (ZFP90), mRNA.	92					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		CCAGGCCTGAAGTCAAATCAT	0.423													T	68596966	A	T	68596966	3	4	129	1	0	0	0	0	1	0	0	0	17755	69	3	5	290	5	ZFP90	16	68596966	Missense_Mutation	SNP	A	TCGA-14-0787-01A-01W-0424-08	63550002	68596966	21757787	38	8659											
GPR179	440435	broad.mit.edu	37	chr17	36486234	36486234	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggggccttgaggctgTgggatttagggaagatcttg	9	10	17	5	0	1	2	0	1	1	1	1	5	1	4	1	5	1	1	1	5	3	4			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr17:36486234T>C	uc002hpz.3	-	10	3239	c.3218A>G	c.(3217-3219)cAc>cGc	p.H1073R		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	1073						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTGAGGCTGTGGGATTTAGG	0.567													C	36486234	T	C	36486234	3	2	129	1	0	0	0	0	1	0	0	0	6728	1696	59	3	3889	3	GPR179	17	36486234	Missense_Mutation	SNP	T	TCGA-14-0787-01A-01W-0424-08		36486234	44708976	39	8660											
CDH7	1005	broad.mit.edu	37	chr18	63476948	63476948	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcaccagcttcactcTgatgttgataaaggagatgg	11	14	9	7	0	3	3	2	2	1	1	3	4	3	3	1	2	1	2	1	2	2	5			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr18:63476948T>C	uc002lkb.3	+	2	645	c.219T>C	c.(217-219)tcT>tcC	p.S73S	CDH7_uc002ljz.3_Silent_p.S73S|CDH7_uc002lka.3_Silent_p.S73S	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	73	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGCTTCACTCTGATGTTGATA	0.378													C	63476948	T	C	63476948	2	2	129	1	0	0	0	0	0	0	0	1	3145	1567	55	3		3	CDH7	18	63476948	Silent	SNP	T	TCGA-14-0787-01A-01W-0424-08		63476948	14600300	40	8661											
NFIC	4782	broad.mit.edu	37	chr19	3449019	3449019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccctccacaggcatctcGtccccggtgaagaagacaga	11	6	9	15	2	1	4	0	1	1	3	5	4	4	4	5	2	0	1	5	2	2	0			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:3449019G>A	uc010xhi.2	+	6	1036	c.966G>A	c.(964-966)tcG>tcA	p.S322S	NFIC_uc002lxo.3_Silent_p.S313S|NFIC_uc010xhh.2_Silent_p.S313S|NFIC_uc010xhj.2_Silent_p.S322S|NFIC_uc002lxp.3_Silent_p.S322S	NM_001245002	NP_001231931	P08651	NFIC_HUMAN	Homo sapiens nuclear factor I/C (CCAAT-binding transcription factor) (NFIC), transcript variant 1, mRNA.	322					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CAGGCATCTCGTCCCCGGTGA	0.632													A	3449019	G	A	3449019	2	1	129	1	0	0	0	0	0	0	0	1	10448	1132	40	1		1	NFIC	19	3449019	Silent	SNP	G	TCGA-14-0787-01A-01W-0424-08		3449019	55679964	41	8662											
TYK2	7297	broad.mit.edu	37	chr19	10467283	10467283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcacgcaggatggtgcGgaatgatggcctctgggttg	7	9	18	7	2	2	1	1	1	1	0	2	4	2	3	1	6	1	2	1	6	1	1			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:10467283G>A	uc002moc.4	-	17	2956	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C	TYK2_uc010dxe.3_Missense_Mutation_p.R675C	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	860	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			AGGATGGTGCGGAATGATGGC	0.662													A	10467283	G	A	10467283	3	1	129	1	0	0	0	0	1	0	0	0	16912	1116	39	1	1017	1	TYK2	19	10467283	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	7018264	10467283	48661700	42	8663											
SARS2	54938	broad.mit.edu	37	chr19	39408365	39408365	+	Frame_Shift_Del	DEL	G	G	-																															ccctggcccctctccacaccGgaagtgcaagcccagctctg																										TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:39408365delG	uc010xup.1	-	13	1326	c.1166_splice	c.e13+1	p.R389_splice	SARS2_uc002ojz.2_Splice_Site_p.R197_splice|SARS2_uc002oka.2_Splice_Site_p.R387_splice|SARS2_uc010xuq.1_Splice_Site_p.R387_splice|SARS2_uc010xur.1_Splice_Site	NM_001145901	NP_001139373	Q9NP81	SYSM_HUMAN	Homo sapiens seryl-tRNA synthetase 2, mitochondrial (SARS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	387					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTCCACACCGGAAGTGCAAG	0.637													-	39408365	G	-	39408365	7	5	129	1	0	1	0	1	0	0	0	0	13937	1130	39	0	417	0	SARS2	19	39408365	Frame_Shift_Del	DEL	G	TCGA-14-0787-01A-01W-0424-08	28941082	39408365	19720618	43	8664											
ZNF610	162963	broad.mit.edu	37	chr19	52869863	52869863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgacaaagtctttgggcGcaaattatacctaaccaacc	14	10	7	10	1	1	1	0	1	1	0	1	1	1	1	3	1	3	1	3	1	6	4	rs150692972		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:52869863G>A	uc002pyx.4	+	5	1638	c.1232G>A	c.(1231-1233)cGc>cAc	p.R411H	ZNF610_uc002pyy.4_Missense_Mutation_p.R411H|ZNF610_uc002pyz.4_Missense_Mutation_p.R368H|ZNF610_uc002pza.3_Missense_Mutation_p.R411H	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		GTCTTTGGGCGCAAATTATAC	0.423													A	52869863	G	A	52869863	3	1	129	1	0	0	0	0	1	0	0	0	18137	1087	38	1	1246	1	ZNF610	19	52869863	Missense_Mutation	SNP	G	TCGA-14-0787-01A-01W-0424-08	13461498	52869863	6259120	44	8665											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284986	55284986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccatcagtcgcatgaCgcaagacctggcagggacct	9	8	10	14	2	2	2	1	1	1	1	4	3	2	3	3	2	0	3	3	2	1	1	rs117204680	byFrequency	TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr19:55284986C>T	uc010erz.1	+	2	310	c.272C>T	c.(271-273)aCg>aTg	p.T91M	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Missense_Mutation_p.T91M	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	91	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		AGTCGCATGACGCAAGACCTG	0.532													T	55284986	C	T	55284986	3	4	129	1	0	0	0	0	1	0	0	0	8374	536	19	1	282	1	KIR2DL1	19	55284986	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08	2415123	55284986	3843997	45	8666											
APOBEC3B	200315	broad.mit.edu	37	chr22	39357613	39357613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccgcatctatgattaCgaccccctatataaggaggc	10	9	9	13	2	1	1	0	1	1	0	1	3	1	2	3	2	2	2	3	2	5	5	rs141631289		TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chr22:39357613C>T	uc003awn.2	+	2	566	c.396C>T	c.(394-396)taC>taT	p.Y132Y	APOBEC3B_uc011aob.1_Silent_p.Y114Y|APOBEC3B_uc011aoc.1_Silent_p.Y132Y	NM_145699	NP_663745	Q9UH17	ABC3B_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3A (APOBEC3A), transcript variant 1, mRNA.	315					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding	p.Y132Y(1)		cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TCTATGATTACGACCCCCTAT	0.572													T	39357613	C	T	39357613	2	4	129	1	0	0	0	0	0	0	0	1	793	547	19	1		1	APOBEC3B	22	39357613	Silent	SNP	C	TCGA-14-0787-01A-01W-0424-08		39357613	11946953	46	8667											
RLIM	51132	broad.mit.edu	37	chrX	73811411	73811411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtagtttacgaagtttgttgCcttctgtatattctgtaatg	8	19	9	5	1	2	0	0	0	2	0	2	1	2	0	1	0	2	6	1	0	6	10			TCGA-14-0787-01A-01W-0424-08	TCGA-14-0787-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	184b240c-ebf1-4ecf-87eb-aae0718cd81f	160d43cf-950b-4476-aaec-6d9be41de861	g.chrX:73811411C>T	uc004ebu.3	-	4	2029	c.1739G>A	c.(1738-1740)gGc>gAc	p.G580D	RLIM_uc004ebw.3_Missense_Mutation_p.G580D	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	580					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTTTGTTGCCTTCTGTATA	0.408													T	73811411	C	T	73811411	3	4	129	1	0	0	0	0	1	0	0	0	13481	739	26	2	139	2	RLIM	23	73811411	Missense_Mutation	SNP	C	TCGA-14-0787-01A-01W-0424-08		73811411	81459149	47	8668											
CHD5	26038	broad.mit.edu	37	chr1	6189033	6189033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcatcatcttgcgcttggCcacctgcgtgatgcgctcct	5	11	11	14	3	2	1	1	1	1	0	3	2	3	1	3	1	4	3	3	1	0	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:6189033C>A	uc001amb.2	-	22	3595	c.3484G>T	c.(3484-3486)Gcc>Tcc	p.A1162S	CHD5_uc001alz.2_Missense_Mutation_p.A19S|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1162	Helicase C-terminal.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGCGCTTGGCCACCTGCGTG	0.642													A	6189033	C	A	6189033	3	1	130	1	0	0	0	0	1	0	0	0	3358	739	26	4	2456	4	CHD5	1	6189033	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		6189033	243061588	1	8669											
MRTO4	51154	broad.mit.edu	37	chr1	19584462	19584462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcagctgggcctgccCaccgccctcaagagaggtat	8	6	12	15	1	2	1	2	0	0	1	2	2	2	1	4	3	2	3	4	3	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:19584462C>T	uc001bbs.3	+	5	732	c.477C>T	c.(475-477)ccC>ccT	p.P159P		NM_016183	NP_057267	Q9UKD2	MRT4_HUMAN	Homo sapiens mRNA turnover 4 homolog (S. cerevisiae) (MRTO4), mRNA.	159					ribosome biogenesis	nuclear membrane|nucleolus				breast(1)|endometrium(1)|large_intestine(1)|liver(2)|ovary(1)|pancreas(1)|stomach(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.87e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00301)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGGGCCTGCCCACCGCCCTCA	0.607													T	19584462	C	T	19584462	2	4	130	1	0	0	0	0	0	0	0	1	9928	581	21	2		2	MRTO4	1	19584462	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	13395429	19584462	229666159	2	8670											
HPCAL4	51440	broad.mit.edu	37	chr1	40149794	40149794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggaaagcgtgctgcgCgaacttggaggcgtcgccgt	6	7	18	10	7	0	0	0	0	0	0	1	3	0	2	1	4	5	1	1	4	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:40149794C>T	uc001cdr.3	-	2	313	c.193G>A	c.(193-195)Gcg>Acg	p.A65T	HPCAL4_uc010oix.2_Intron	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	65	EF-hand 2.				central nervous system development	intracellular	calcium ion binding	p.A65S(2)		breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCGTGCTGCGCGAACTTGGAG	0.682													T	40149794	C	T	40149794	3	4	130	1	0	0	0	0	1	0	0	0	7386	768	27	1	390	1	HPCAL4	1	40149794	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	20565332	40149794	209100827	3	8671											
C1orf177	163747	broad.mit.edu	37	chr1	55277777	55277777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccttgagacatatgtggCacgatccgtcggcacccgcg	8	7	12	14	6	0	1	0	1	0	1	2	4	1	1	3	2	0	2	3	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:55277777C>A	uc001cyb.4	+	5	731	c.677C>A	c.(676-678)gCa>gAa	p.A226E	C1orf177_uc001cya.4_Missense_Mutation_p.A226E	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	226										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						ACATATGTGGCACGATCCGTC	0.592													A	55277777	C	A	55277777	3	1	130	1	0	0	0	0	1	0	0	0	2037	710	25	4	699	4	C1orf177	1	55277777	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15127983	55277777	193972844	4	8672											
GPSM2	29899	broad.mit.edu	37	chr1	109472462	109472462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagagttcttttacaaaGagatcaaaacagagacactg	18	8	8	7	0	2	3	1	0	1	3	2	6	2	3	0	0	2	1	0	0	4	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:109472462G>C	uc010ovc.2	+	14	2451	c.1955G>C	c.(1954-1956)aGa>aCa	p.R652T	AKNAD1_uc010ovb.2_Intron|GPSM2_uc010ovd.2_Missense_Mutation_p.R652T|GPSM2_uc010ove.1_Missense_Mutation_p.R652T|CLCC1_uc001dwg.1_3'UTR|CLCC1_uc001dwf.1_3'UTR	NM_013296	NP_037428	P81274	GPSM2_HUMAN	Homo sapiens G-protein signaling modulator 2 (GPSM2), mRNA.	652					G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		CTTTTACAAAGAGATCAAAAC	0.398													C	109472462	G	C	109472462	3	2	130	1	0	0	0	0	1	0	0	0	6790	942	33	4	2009	4	GPSM2	1	109472462	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54194685	109472462	139778159	5	8673											
ZNF697	90874	broad.mit.edu	37	chr1	120165477	120165477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gataaagctcttgccgcactCgatgcacgtgtagggcttct	8	11	11	11	3	2	0	0	0	2	0	3	2	2	0	1	1	3	5	1	1	3	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:120165477C>T	uc001ehy.1	-	2	1603	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TTGCCGCACTCGATGCACGTG	0.647													T	120165477	C	T	120165477	3	4	130	1	0	0	0	0	1	0	0	0	18201	893	31	1	152	1	ZNF697	1	120165477	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	10693015	120165477	129085144	6	8674											
PDE4DIP	9659	broad.mit.edu	37	chr1	144886204	144886204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgctggtggaactcagcCctcaggtggagcatttcttc	8	11	12	10	0	3	0	2	0	1	0	4	2	3	2	1	4	4	2	1	4	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:144886204C>T	uc021ouh.1	-	22	3332	c.3030G>A	c.(3028-3030)agG>agA	p.R1010R	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.R1010R|PDE4DIP_uc001elx.4_Silent_p.R1076R|PDE4DIP_uc001elv.4_Silent_p.R17R	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	1010					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.R1010S(3)|p.R1010N(3)|p.R1010K(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAACTCAGCCCTCAGGTGGA	0.522			T	PDGFRB	MPD								T	144886204	C	T	144886204	2	4	130	1	0	0	0	0	0	0	0	1	11719	622	22	2		2	PDE4DIP	1	144886204	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	24720727	144886204	104364417	7	8675											
LINGO4	339398	broad.mit.edu	37	chr1	151774395	151774395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggcaccgagctcagattGcagcgagtgatggccaggct	10	6	15	10	2	1	2	1	1	0	1	1	4	1	2	2	3	3	4	2	3	1	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:151774395G>A	uc001ezf.1	-	1	976	c.786C>T	c.(784-786)tgC>tgT	p.C262C	LINGO4_uc021oyu.1_Silent_p.C262C	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	262						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCTCAGATTGCAGCGAGTGA	0.607													A	151774395	G	A	151774395	2	1	130	1	0	0	0	0	0	0	0	1	8878	1311	46	2		2	LINGO4	1	151774395	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	6888191	151774395	97476226	8	8676											
FLG2	388698	broad.mit.edu	37	chr1	152329096	152329096	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaccattactacaagacTggctacctccagacccatat	12	10	6	13	0	0	3	0	1	0	2	1	3	1	3	4	1	3	2	4	1	5	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152329096T>G	uc001ezw.4	-	2	1239	c.1166A>C	c.(1165-1167)cAg>cCg	p.Q389P	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	389	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTACAAGACTGGCTACCTCC	0.443													G	152329096	T	G	152329096	3	3	130	1	0	0	0	0	1	0	0	0	5972	1580	55	5	6013	5	FLG2	1	152329096	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	554701	152329096	96921525	9	8677											
CRNN	49860	broad.mit.edu	37	chr1	152383181	152383181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatgctgccctttccccGcccttcccacttcagtgcca	6	11	5	19	1	1	0	1	0	0	0	3	0	3	0	6	0	3	1	6	0	1	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:152383181G>A	uc001ezx.2	-	2	451	c.377C>T	c.(376-378)gCg>gTg	p.A126V		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	126					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637													A	152383181	G	A	152383181	3	1	130	1	0	0	0	0	1	0	0	0	3923	1087	38	1	1114	1	CRNN	1	152383181	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54085	152383181	96867440	10	8678											
S100A7A	338324	broad.mit.edu	37	chr1	153390660	153390660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaagccaagcctgctgacGatgatgaaggagaacttccc	13	6	12	10	1	0	5	0	3	0	2	1	8	1	5	3	1	4	1	3	1	4	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:153390660G>A	uc001fbt.1	+	1	159	c.102G>A	c.(100-102)acG>acA	p.T34T		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	34	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCCTGCTGACGATGATGAAGG	0.483													A	153390660	G	A	153390660	2	1	130	1	0	0	0	0	0	0	0	1	13875	1045	37	1		1	S100A7A	1	153390660	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	1007479	153390660	95859961	11	8679											
HMCN1	83872	broad.mit.edu	37	chr1	186052023	186052023	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactcaaataacagatatCggcaggtatgtgtgtgttgc	13	12	10	6	1	1	1	1	0	0	1	2	1	1	1	0	2	3	3	0	2	6	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:186052023C>A	uc001grq.1	+	56	9043	c.8814C>A	c.(8812-8814)atC>atA	p.I2938I	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2938	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAACAGATATCGGCAGGTATG	0.328													A	186052023	C	A	186052023	2	1	130	1	0	0	0	0	0	0	0	1	7275	874	31	4		4	HMCN1	1	186052023	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	32661363	186052023	63198598	12	8680											
HHIPL2	79802	broad.mit.edu	37	chr1	222713493	222713493	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacagaatatccggcctcGgccctggcgcgtgatggggt	6	7	14	14	4	0	2	0	1	0	1	2	2	1	2	4	5	0	0	4	5	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:222713493G>A	uc001hnh.1	-	3	1367	c.1309C>T	c.(1309-1311)Cga>Tga	p.R437*		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	437					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ATCCGGCCTCGGCCCTGGCGC	0.577													A	222713493	G	A	222713493	4	1	130	1	0	0	0	0	0	1	0	0	7149	1124	39	1	889	1	HHIPL2	1	222713493	Nonsense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	36661470	222713493	26537128	13	8681											
RYR2	6262	broad.mit.edu	37	chr1	237802413	237802413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaaggtgggaatgggCttcttgcagcaatggaagaa	13	7	17	4	0	1	2	0	0	1	2	1	6	1	4	0	5	2	3	0	5	5	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr1:237802413C>T	uc001hyl.1	+	45	7147	c.7027C>T	c.(7027-7029)Ctt>Ttt	p.L2343F		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2343	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TGGGAATGGGCTTCTTGCAGC	0.498													T	237802413	C	T	237802413	3	4	130	1	0	0	0	0	1	0	0	0	13860	797	28	2	7209	2	RYR2	1	237802413	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15088920	237802413	11448208	14	8682											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698942	17698942	+	Frame_Shift_Del	DEL	T	T	-																															ctatctctaaaatagctaggTttggcaatttccaagctggg																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:17698942delT	uc002rcl.1	-	0	765	c.741delA	c.(739-741)aaafs	p.K247fs	RAD51AP2_uc010exn.1_Frame_Shift_Del_p.K238fs	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	247										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AATAGCTAGGTTTGGCAATTT	0.353													-	17698942	T	-	17698942	7	5	130	1	0	1	0	1	0	0	0	0	13075	1722	60	0	2750	0	RAD51AP2	2	17698942	Frame_Shift_Del	DEL	T	TCGA-14-0789-01A-01W-0424-08		17698942	225500431	15	8683											
ADCY3	109	broad.mit.edu	37	chr2	25095488	25095489	+	Frame_Shift_Ins	INS	-	-	G																															cttcacctccagcgactggcINSgggcctccaggaaggccttg																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:25095488_25095489insG	uc010ykm.2	-	1	974_975	c.775_776insC	c.(775-777)cgcfs	p.R259fs	ADCY3_uc002rfs.4_Frame_Shift_Ins_p.R259fs	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	259					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CAGCGACTGGCGGGCCTCCAGG	0.634													G	25095489	-	G	25095488	7	5	130	1	0	1	1	0	0	0	0	0	295	768	27	0	2738	0	ADCY3	2	25095488	Frame_Shift_Ins	INS	-	TCGA-14-0789-01A-01W-0424-08	7396546	25095488	218103885	16	8684											
PLB1	151056	broad.mit.edu	37	chr2	28761204	28761204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgggcttgcggcgggcGgcgtggatgagctgatgggg	6	7	22	6	4	0	3	0	2	0	1	0	4	0	4	0	7	2	2	0	7	1	1	rs149462466		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:28761204G>A	uc002rmb.2	+	9	618	c.574G>A	c.(574-576)Ggc>Agc	p.G192S	PLB1_uc010ezj.2_Missense_Mutation_p.G203S	NM_153021	NP_694566	Q6P1J6	PLB1_HUMAN	Homo sapiens phospholipase B1 (PLB1), transcript variant 1, mRNA.	192	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					TGCGGCGGGCGGCGTGGATGA	0.642													A	28761204	G	A	28761204	3	1	130	1	0	0	0	0	1	0	0	0	12101	1116	39	1	645	1	PLB1	2	28761204	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	3665716	28761204	214438169	17	8685											
LRP1B	53353	broad.mit.edu	37	chr2	141081530	141081530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatttaaagctaagtacTctactgaaccatggccaaat	16	11	5	9	0	1	1	0	1	1	0	1	1	1	1	2	1	4	2	2	1	9	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:141081530T>C	uc002tvj.1	-	80	13418	c.12446A>G	c.(12445-12447)gAg>gGg	p.E4149G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4149					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.E4149*(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGCTAAGTACTCTACTGAACC	0.289										TSP Lung(27;0.18)			C	141081530	T	C	141081530	3	2	130	1	0	0	0	0	1	0	0	0	9025	1551	54	3	1397	3	LRP1B	2	141081530	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	112320326	141081530	102117843	18	8686											
SGOL2	151246	broad.mit.edu	37	chr2	201437974	201437974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatggaagtcaacagtaatGaaaaggaaagttgtgatcaa	19	9	10	3	0	2	2	2	2	0	0	2	4	2	4	0	2	1	2	0	2	8	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:201437974G>A	uc002uvw.2	+	6	3018	c.2905G>A	c.(2905-2907)Gaa>Aaa	p.E969K	SGOL2_uc010zhd.1_Missense_Mutation_p.E969K|SGOL2_uc010zhe.1_Missense_Mutation_p.E969K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	969					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAACAGTAATGAAAAGGAAAG	0.274													A	201437974	G	A	201437974	3	1	130	1	0	0	0	0	1	0	0	0	14310	1291	45	2	2927	2	SGOL2	2	201437974	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	60356444	201437974	41761399	19	8687											
SP140	11262	broad.mit.edu	37	chr2	231109774	231109774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgctgaagatgcacccAgcctactaccaggtggggga	11	6	14	10	0	0	3	0	1	0	2	0	5	0	4	3	3	5	2	3	3	3	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:231109774A>T	uc002vql.3	+	5	758	c.643A>T	c.(643-645)Agc>Tgc	p.S215C	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Missense_Mutation_p.S215C|SP140_uc002vqn.3_Missense_Mutation_p.S215C|SP140_uc002vqm.3_Missense_Mutation_p.S215C|SP140_uc010fxl.3_Missense_Mutation_p.S215C	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	215					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGATGCACCCAGCCTACTACC	0.443													T	231109774	A	T	231109774	3	4	130	1	0	0	0	0	1	0	0	0	15056	188	7	5	782	5	SP140	2	231109774	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08	29671800	231109774	12089599	20	8688											
UGT1A1	54575	broad.mit.edu	37	chr2	234545195	234545195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcagggtggaccagcccCgttcctttatgtgtgtgtct	4	12	13	12	3	1	0	0	0	1	0	2	1	2	1	4	2	1	2	4	2	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr2:234545195C>T	uc002vur.3	+	0	73	c.27C>T	c.(25-27)ccC>ccT	p.P9P	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Silent_p.P9P	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	0					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGACCAGCCCCGTTCCTTTAT	0.572													T	234545195	C	T	234545195	2	4	130	1	0	0	0	0	0	0	0	1	17046	639	23	1		1	UGT1A1	2	234545195	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	3435421	234545195	8654178	21	8689											
CHL1	10752	broad.mit.edu	37	chr3	405060	405060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtcacagccaatttggatAttagaagtatttttatttca	13	16	6	6	0	2	1	2	0	0	1	2	2	2	2	1	1	1	1	1	1	6	8			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:405060A>T	uc003bot.3	+	13	2221	c.1579A>T	c.(1579-1581)Att>Ttt	p.I527F	CHL1_uc003bou.3_Missense_Mutation_p.I511F|CHL1_uc003bow.2_Missense_Mutation_p.I511F|CHL1_uc011asi.2_Missense_Mutation_p.I527F|BC065754_uc003box.1_Non-coding_Transcript	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	511	Ig-like C2-type 6.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		CAATTTGGATATTAGAAGTAT	0.378													T	405060	A	T	405060	3	4	130	1	0	0	0	0	1	0	0	0	3379	449	16	5	1625	5	CHL1	3	405060	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08		405060	197617370	22	8690											
CACNA2D3	55799	broad.mit.edu	37	chr3	54930849	54930849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctggtaccgaagagccGctgagcagattccagggagc	9	7	13	12	2	1	3	0	1	1	2	3	5	2	4	3	2	4	3	3	2	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:54930849G>A	uc003dhf.3	+	25	2368	c.2320G>A	c.(2320-2322)Gct>Act	p.A774T	CACNA2D3_uc003dhg.1_Missense_Mutation_p.A680T|CACNA2D3_uc003dhh.1_Non-coding_Transcript|AK092143_uc003dhk.1_Non-coding_Transcript	NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	774						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.A774T(2)|p.A773V(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCGAAGAGCCGCTGAGCAGAT	0.537													A	54930849	G	A	54930849	3	1	130	1	0	0	0	0	1	0	0	0	2576	1087	38	1	2422	1	CACNA2D3	3	54930849	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	54525789	54930849	143091581	23	8691											
PIK3CB	5291	broad.mit.edu	37	chr3	138417859	138417859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtccaaataagatccatttCattttcacacagttgagaca	15	12	5	9	0	2	2	2	1	0	2	4	3	4	2	2	0	0	1	2	0	2	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr3:138417859C>T	uc011bmq.2	-	10	1660	c.1660G>A	c.(1660-1662)Gaa>Aaa	p.E554K	PIK3CB_uc011bmn.2_Missense_Mutation_p.E66K|PIK3CB_uc011bmo.2_5'UTR|PIK3CB_uc011bmp.2_Missense_Mutation_p.E141K	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	554	PI3K helical.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCCATTTCATTTTCACAC	0.383													T	138417859	C	T	138417859	3	4	130	1	0	0	0	0	1	0	0	0	11991	835	29	2	1598	2	PIK3CB	3	138417859	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	83487010	138417859	59604571	24	8692											
IDUA	3425	broad.mit.edu	37	chr4	995507	995507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcggagggtctgcgCgccgccagccccgccctgcg	2	5	15	19	6	1	0	0	0	1	0	2	1	1	1	6	2	4	1	6	2	0	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:995507C>T	uc003gby.3	+	5	718	c.630C>T	c.(628-630)cgC>cgT	p.R210R	IDUA_uc003gbz.3_Non-coding_Transcript|IDUA_uc003gca.3_Silent_p.R163R	NM_000203	NP_000194	P35475	IDUA_HUMAN	Homo sapiens iduronidase, alpha-L- (IDUA), mRNA.	210					disaccharide metabolic process	lysosome	cation binding|L-iduronidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(23;0.0158)		Laronidase(DB00090)	AGGGTCTGCGCGCCGCCAGCC	0.716													T	995507	C	T	995507	2	4	130	1	0	0	0	0	0	0	0	1	7562	755	27	1		1	IDUA	4	995507	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		995507	190158769	25	8693											
TLR10	81793	broad.mit.edu	37	chr4	38777060	38777060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataggataaatccagtgtcGttgtggctggggtcaagtct	9	13	13	6	1	2	0	1	0	1	0	4	1	3	1	1	4	0	2	1	4	5	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:38777060G>A	uc003gtj.3	-	3	790	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TLR10_uc021xnk.1_Missense_Mutation_p.T37M|TLR10_uc003gti.3_Missense_Mutation_p.T51M|TLR10_uc021xnl.1_Missense_Mutation_p.T51M|TLR10_uc003gtk.3_Missense_Mutation_p.T51M|TLR10_uc021xnm.1_Missense_Mutation_p.T51M	NM_030956	NP_001182037	Q9BXR5	TLR10_HUMAN	Homo sapiens toll-like receptor 10 (TLR10), transcript variant 1, mRNA.	51					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATCCAGTGTCGTTGTGGCTGG	0.448													A	38777060	G	A	38777060	3	1	130	1	0	0	0	0	1	0	0	0	16050	1145	40	1	2287	1	TLR10	4	38777060	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	37781553	38777060	152377216	26	8694											
CCDC158	339965	broad.mit.edu	37	chr4	77304876	77304876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattcagatttcagtgcttCaagttgatcctctacctggt	8	16	8	9	0	4	3	3	2	1	1	5	3	5	3	2	1	2	2	2	1	2	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:77304876C>T	uc003hkb.4	-	5	895	c.742G>A	c.(742-744)Gaa>Aaa	p.E248K	CCDC158_uc003hkd.3_Missense_Mutation_p.E248K	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	248										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TTCAGTGCTTCAAGTTGATCC	0.368													T	77304876	C	T	77304876	3	4	130	1	0	0	0	0	1	0	0	0	2817	835	29	2	2675	2	CCDC158	4	77304876	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	38527816	77304876	113849400	27	8695											
SPARCL1	8404	broad.mit.edu	37	chr4	88420673	88420673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaagaaaggaaatttacCgggattgcagctgcagttcc	14	8	11	8	1	0	2	0	0	0	2	1	4	1	4	2	2	4	4	2	2	4	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:88420673C>T	uc010ikm.3	-	3	626	c.54_splice	c.e3+1	p.P18_splice	SPARCL1_uc011cdc.2_Intron|SPARCL1_uc003hqs.4_Splice_Site_p.P18_splice|SPARCL1_uc011cdd.2_Splice_Site	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	18					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		GGAAATTTACCGGGATTGCAG	0.363													T	88420673	C	T	88420673	2	4	130	1	0	0	0	0	0	0	0	1	15092	666	23	1		1	SPARCL1	4	88420673	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	11115797	88420673	102733603	28	8696											
FGA	2243	broad.mit.edu	37	chr4	155507297	155507297	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaccagtttttctgtgtgGtactctctccttgtccctgg	3	17	10	11	0	2	1	0	1	2	0	5	1	4	1	3	2	1	2	3	2	1	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr4:155507297G>T	uc003iod.1	-	4	1342	c.1284C>A	c.(1282-1284)taC>taA	p.Y428*	FGA_uc003ioe.1_Nonsense_Mutation_p.Y428*|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	428					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTTCTGTGTGGTACTCTCTCC	0.512													T	155507297	G	T	155507297	4	4	130	1	0	0	0	0	0	1	0	0	5879	1256	44	4	1368	4	FGA	4	155507297	Nonsense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	67086624	155507297	35646979	29	8697											
THBS4	7060	broad.mit.edu	37	chr5	79378941	79378941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagagtttcaaacccagAatttcgaccgcttcgataat	13	11	6	11	3	1	2	1	0	0	2	4	4	2	2	3	0	1	2	3	0	4	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:79378941A>G	uc021yaw.1	+	21	3054	c.2863A>G	c.(2863-2865)Aat>Gat	p.N955D	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	955					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TCAAACCCAGAATTTCGACCG	0.453											OREG0016685	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	79378941	A	G	79378941	3	3	130	1	0	0	0	0	1	0	0	0	15956	246	9	3	2949	3	THBS4	5	79378941	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08		79378941	101536319	30	8698											
HARS	3035	broad.mit.edu	37	chr5	140053903	140053903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccacaaggtcttctcttCggacatccacctggccagga	8	9	8	16	1	2	0	0	0	2	0	6	2	4	2	5	4	0	0	5	4	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140053903C>T	uc003lgv.3	-	12	1551	c.1469G>A	c.(1468-1470)cGa>cAa	p.R490Q	DND1_uc003lgt.3_5'Flank|HARS_uc003lgu.3_Missense_Mutation_p.R421Q|HARS_uc011czm.2_Missense_Mutation_p.R450Q|HARS_uc003lgw.3_Missense_Mutation_p.R470Q|HARS_uc011czn.2_Missense_Mutation_p.R430Q|HARS_uc011czo.2_Missense_Mutation_p.R416Q|HARS_uc011czp.2_Missense_Mutation_p.R376Q	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	490					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GTCTTCTCTTCGGACATCCAC	0.522													T	140053903	C	T	140053903	3	4	130	1	0	0	0	0	1	0	0	0	7014	884	31	1	64	1	HARS	5	140053903	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	60674962	140053903	40861357	31	8699											
PCDHAC2	56146	broad.mit.edu	37	chr5	140174750	140174750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgttccgggtggcGtccaaaagacacggggacct	7	6	14	14	5	0	1	0	0	0	1	2	2	2	2	5	4	0	1	5	4	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140174750G>A	uc003lhd.2	+	0	307	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.A67A|PCDHAC2_uc011czy.2_Silent_p.A67A	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.647													A	140174750	G	A	140174750	2	1	130	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140174750	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	120847	140174750	40740510	32	8700											
PCDHB4	56131	broad.mit.edu	37	chr5	140503471	140503471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccgccaggctgctgagcGagcgcgacgcagccaagcac	9	2	14	16	5	0	1	0	1	0	0	0	3	0	1	3	1	5	5	3	1	1	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr5:140503471G>A	uc003lip.1	+	0	1891	c.1891G>A	c.(1891-1893)Gag>Aag	p.E631K		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	631	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGCTGAGCGAGCGCGACGC	0.687													A	140503471	G	A	140503471	3	1	130	1	0	0	0	0	1	0	0	0	11620	1059	37	1	1893	1	PCDHB4	5	140503471	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	328721	140503471	40411789	33	8701											
HLA-G	3136	broad.mit.edu	37	chr6	29856360	29856360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgccctgaacgaggacCtgcgctcctggaccgcggcg	7	5	13	16	6	0	1	0	1	0	0	2	4	1	3	4	3	2	1	4	3	1	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:29856360C>A	uc010jro.3	+	2	612	c.466C>A	c.(466-468)Ctg>Atg	p.L156M	HLA-G_uc021ytw.1_Non-coding_Transcript|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Missense_Mutation_p.L154M|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	154	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						GAACGAGGACCTGCGCTCCTG	0.672													A	29856360	C	A	29856360	3	1	130	1	0	0	0	0	1	0	0	0	7267	696	24	4		4	HLA-G	6	29856360	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		29856360	141258707	34	8702											
PRRT1	80863	broad.mit.edu	37	chr6	32118160	32118160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccgtgcccaccgggtaGaccggcacgtaagcagtgca	9	5	12	15	4	1	1	1	0	0	1	1	1	1	1	4	2	3	5	4	2	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:32118160G>A	uc003nzu.3	-	3	485	c.220C>T	c.(220-222)Cta>Tta	p.L74L	PRRT1_uc003nzs.3_Silent_p.V222V|PRRT1_uc003nzt.3_Silent_p.V181V			Q99946	PRRT1_HUMAN	Homo sapiens proline-rich transmembrane protein 1 (PRRT1), mRNA.	182					response to biotic stimulus	integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(2)	6						CCACCGGGTAGACCGGCACGT	0.667													A	32118160	G	A	32118160	2	1	130	1	0	0	0	0	0	0	0	1	12694	929	33	2		2	PRRT1	6	32118160	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	2261800	32118160	138996907	35	8703											
ITPR3	3710	broad.mit.edu	37	chr6	33633622	33633622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacccaggtttgtcatcCagctgctggaagacctggtg	7	10	11	13	0	2	1	2	0	0	1	3	2	3	2	4	3	2	3	4	3	1	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:33633622C>T	uc021ywr.1	+	13	1644	c.1420C>T	c.(1420-1422)Cag>Tag	p.Q474*		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	474					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTTTGTCATCCAGCTGCTGGA	0.572													T	33633622	C	T	33633622	4	4	130	1	0	0	0	0	0	1	0	0	7980	595	21	2	1474	2	ITPR3	6	33633622	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	1515462	33633622	137481445	36	8704											
VEGFA	7422	broad.mit.edu	37	chr6	43748479	43748479	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattttccagaaaatcagttCgaggaaagggaaaggggcaa	16	8	12	5	1	1	1	1	0	0	1	3	4	2	3	1	4	0	2	1	4	6	4	rs45533131		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:43748479C>T	uc003owh.3	+	5	1471	c.973C>T	c.(973-975)Cga>Tga	p.R325*	VEGFA_uc003owd.3_Intron|VEGFA_uc010jyx.3_Intron|VEGFA_uc003owf.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owg.3_Nonsense_Mutation_p.R325*|VEGFA_uc003owe.3_Intron|VEGFA_uc021yzu.1_Nonsense_Mutation_p.R324*|VEGFA_uc003owj.3_Intron|VEGFA_uc003owi.3_Intron|VEGFA_uc003owk.3_Intron	NM_001171623	NP_001165094	P15692	VEGFA_HUMAN	Homo sapiens vascular endothelial growth factor A (VEGFA), transcript variant 1, mRNA.	145					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding	p.R325*(2)		breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AAAATCAGTTCGAGGAAAGGG	0.532													T	43748479	C	T	43748479	4	4	130	1	0	0	0	0	0	1	0	0	17252	876	31	1	995	1	VEGFA	6	43748479	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	10114857	43748479	127366588	37	8705											
GPRC6A	222545	broad.mit.edu	37	chr6	117128089	117128089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgattttcttcagtgtcCgattgattctgacttcaatg	10	17	7	7	1	4	3	2	3	2	0	5	4	5	3	1	0	0	0	1	0	2	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:117128089C>T	uc003pxj.1	-	2	801	c.779G>A	c.(778-780)cGg>cAg	p.R260Q	GPRC6A_uc003pxk.1_Missense_Mutation_p.R260Q|GPRC6A_uc003pxl.1_Missense_Mutation_p.R260Q	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	260					response to amino acid stimulus		G-protein coupled receptor activity	p.R260W(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTCAGTGTCCGATTGATTCT	0.363													T	117128089	C	T	117128089	3	4	130	1	0	0	0	0	1	0	0	0	6783	652	23	1	2017	1	GPRC6A	6	117128089	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	73379610	117128089	53986978	38	8706											
LPA	4018	broad.mit.edu	37	chr6	161020531	161020531	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaagaacaaagacgtaCgcatttgggtagttttctgg	12	12	12	5	2	1	2	0	0	1	2	1	2	1	2	0	3	2	5	0	3	6	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr6:161020531C>T	uc003qtl.3	-	21	3407	c.3287_splice	c.e21+1	p.A1096_splice		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3604	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CAAAGACGTACGCATTTGGGT	0.483													T	161020531	C	T	161020531	5	4	130	1	0	0	0	0	0	0	1	0	8973	550	19	1	2914	1	LPA	6	161020531	Splice_Site	SNP	C	TCGA-14-0789-01A-01W-0424-08	43892442	161020531	10094536	39	8707											
EGFR	1956	broad.mit.edu	37	chr7	55238870	55238870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttcacttcctacagatGcactgggccaggtcttgaag	8	12	9	12	0	3	2	1	1	2	1	4	2	4	2	2	2	2	1	2	2	2	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:55238870G>A	uc003tqk.3	+	15	2129	c.1883G>A	c.(1882-1884)tGc>tAc	p.C628Y	EGFR_uc022adm.1_Missense_Mutation_p.C628Y|EGFR_uc010kzg.2_Missense_Mutation_p.C583Y|EGFR_uc022adn.1_Missense_Mutation_p.C583Y|EGFR_uc011kco.2_Missense_Mutation_p.C575Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	628					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTACAGATGCACTGGGCCA	0.393		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55238870	G	A	55238870	3	1	130	1	0	0	0	0	1	0	0	0	5006	1319	46	2	2209	2	EGFR	7	55238870	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		55238870	103899793	40	8708											
CALN1	83698	broad.mit.edu	37	chr7	71252851	71252851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcatatgaggctcttcCggacgcaggtctgtctgttc	6	11	13	11	3	3	1	0	1	3	0	5	2	4	2	1	4	0	4	1	4	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:71252851C>T	uc003twb.4	-	6	1086	c.695G>A	c.(694-696)cGg>cAg	p.R232Q	CALN1_uc003twa.4_Missense_Mutation_p.R190Q|CALN1_uc003twc.4_Missense_Mutation_p.R190Q	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	190						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.R232Q(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GAGGCTCTTCCGGACGCAGGT	0.552													T	71252851	C	T	71252851	3	4	130	1	0	0	0	0	1	0	0	0	2617	652	23	1	94	1	CALN1	7	71252851	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	16013981	71252851	87885812	41	8709											
GRM3	2913	broad.mit.edu	37	chr7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactcagtgataagtcgCgctatgattactttgccagg	11	11	9	10	2	1	2	1	2	0	0	2	2	1	2	2	1	3	1	2	1	4	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:86415655C>T	uc003uid.3	+	2	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	183					synaptic transmission	integral to plasma membrane		p.R183C(2)|p.S182L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGATAAGTCGCGCTATGATTA	0.562													T	86415655	C	T	86415655	3	4	130	1	0	0	0	0	1	0	0	0	6853	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	15162804	86415655	72723008	42	8710											
ABCB4	5244	broad.mit.edu	37	chr7	87092144	87092144	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaatactatcatcatgagGgggagacctgatccgtgagc	12	8	11	10	1	2	4	2	3	0	1	3	5	3	4	3	2	2	0	3	2	3	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:87092144G>T	uc003uiv.1	-	3	292	c.216C>A	c.(214-216)ccC>ccA	p.P72P	ABCB4_uc003uiw.1_Silent_p.P72P|ABCB4_uc003uix.1_Silent_p.P72P|ABCB4_uc003uiy.3_Silent_p.P72P	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	72	ABC transmembrane type-1 1.			IMAIAHGSGLP -> RGSSRVDLQAC (in Ref. 5; CAA84542).	cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					TCATCATGAGGGGGAGACCTG	0.383													T	87092144	G	T	87092144	2	4	130	1	0	0	0	0	0	0	0	1	43	1219	43	4		4	ABCB4	7	87092144	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	676489	87092144	72046519	43	8711											
AZGP1	563	broad.mit.edu	37	chr7	99569626	99569626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatataggtcagagagtaaCgacctgcaaaagaaaagatt	19	7	10	5	1	1	4	1	0	0	4	1	6	1	4	1	1	2	2	1	1	7	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:99569626C>T	uc003ush.3	-	1	172	c.80G>A	c.(79-81)cGt>cAt	p.R27H		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	27					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					CAGAGAGTAACGACCTGCAAA	0.527													T	99569626	C	T	99569626	3	4	130	1	0	0	0	0	1	0	0	0	1244	536	19	1	828	1	AZGP1	7	99569626	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	12477482	99569626	59569037	44	8712											
ASB15	142685	broad.mit.edu	37	chr7	123269046	123269046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcattgaaaatggttttgAtgtcaacactctacttgctg	10	15	8	8	0	3	2	2	2	1	0	3	2	3	2	0	1	3	3	0	1	4	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr7:123269046A>G	uc003vku.1	+	9	1290	c.998A>G	c.(997-999)gAt>gGt	p.D333G	ASB15_uc003vkw.1_Missense_Mutation_p.D333G	NM_080928	NP_563616	Q8WXK1	ASB15_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 15 (ASB15), mRNA.	333					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						AATGGTTTTGATGTCAACACT	0.418													G	123269046	A	G	123269046	3	3	130	1	0	0	0	0	1	0	0	0	1024	333	12	3	1024	3	ASB15	7	123269046	Missense_Mutation	SNP	A	TCGA-14-0789-01A-01W-0424-08	23699420	123269046	35869617	45	8713											
ALDH1A1	216	broad.mit.edu	37	chr9	75567900	75567900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggacaggtaagtctggcGtgcctgaggatgacatttct	9	11	14	7	1	2	2	0	2	2	0	2	4	2	4	1	4	1	2	1	4	2	3	rs144704960		TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:75567900G>A	uc004ajd.3	-	0	334	c.17C>T	c.(16-18)aCg>aTg	p.T6M	ALDH1A1_uc011lsh.2_Intron	NM_000689	NP_000680	P00352	AL1A1_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A1 (ALDH1A1), mRNA.	6					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TAAGTCTGGCGTGCCTGAGGA	0.418													A	75567900	G	A	75567900	3	1	130	1	0	0	0	0	1	0	0	0	490	1145	40	1	1540	1	ALDH1A1	9	75567900	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		75567900	65645531	46	8714											
OLFML2A	169611	broad.mit.edu	37	chr9	127566377	127566377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcttctctctgcagacaaCaccctccagggcacttcctg	7	10	8	16	0	3	1	0	0	3	1	6	1	5	1	3	2	2	2	3	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:127566377C>T	uc004bov.3	+	5	1037	c.924C>T	c.(922-924)aaC>aaT	p.N308N	OLFML2A_uc010mwr.1_Silent_p.N272N|OLFML2A_uc004bow.3_Silent_p.N94N	NM_182487	NP_872293	Q68BL7	OLM2A_HUMAN	Homo sapiens olfactomedin-like 2A (OLFML2A), mRNA.	308										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CTGCAGACAACACCCTCCAGG	0.637													T	127566377	C	T	127566377	2	4	130	1	0	0	0	0	0	0	0	1	10933	477	17	2		2	OLFML2A	9	127566377	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	51998477	127566377	13647054	47	8715											
DBH	1621	broad.mit.edu	37	chr9	136507481	136507481	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctcagacgcgtgcacCatggaggtccaagctcccaa	9	7	10	15	2	1	1	1	0	0	1	3	2	3	2	4	2	3	2	4	2	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr9:136507481C>T	uc004cel.3	+	2	648	c.639C>T	c.(637-639)acC>acT	p.T213T		NM_000787	NP_000778	P09172	DOPO_HUMAN	Homo sapiens dopamine beta-hydroxylase (dopamine beta-monooxygenase) (DBH), mRNA.	213					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	ACGCGTGCACCATGGAGGTCC	0.592													T	136507481	C	T	136507481	2	4	130	1	0	0	0	0	0	0	0	1	4284	581	21	2		2	DBH	9	136507481	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	8941104	136507481	4705950	48	8716											
OR52D1	390066	broad.mit.edu	37	chr11	5510222	5510222	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatgctggtgagattTcctttggtggatgcctggcc	4	13	14	10	0	0	1	0	1	0	1	2	3	2	2	4	5	2	2	4	5	0	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:5510222T>A	uc010qzg.2	+	0	308	c.286T>A	c.(286-288)Tcc>Acc	p.S96T	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTGAGATTTCCTTTGGTGG	0.498													A	5510222	T	A	5510222	3	1	130	1	0	0	0	0	1	0	0	0	11190	1783	62	5	288	5	OR52D1	11	5510222	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08		5510222	129496294	49	8717											
PRMT3	10196	broad.mit.edu	37	chr11	20448405	20448405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgttatcatatctgaGtggatggtgagtgtttatag	10	16	13	2	0	2	3	1	2	1	1	2	4	2	4	0	2	0	3	0	2	5	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:20448405G>A	uc001mqb.3	+	9	1204	c.987G>A	c.(985-987)gaG>gaA	p.E329E	PRMT3_uc001mqc.3_Silent_p.E252E|PRMT3_uc010rdn.2_Silent_p.E267E	NM_005788	NP_005779	O60678	ANM3_HUMAN	Homo sapiens protein arginine methyltransferase 3 (PRMT3), transcript variant 1, mRNA.	329							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						TCATATCTGAGTGGATGGTGA	0.254													A	20448405	G	A	20448405	2	1	130	1	0	0	0	0	0	0	0	1	12624	1020	36	2		2	PRMT3	11	20448405	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	14938183	20448405	114558111	50	8718											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985881	117985881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacatactgctgcaggcGtcagtccaggtcattgacag	9	10	11	11	1	3	2	2	2	1	0	4	2	4	2	1	2	3	2	1	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:117985881G>A	uc021qrd.1	+	10	1329	c.1038G>A	c.(1036-1038)gcG>gcA	p.A346A	TMPRSS4_uc009yzu.3_Intron|TMPRSS4_uc021qre.1_Silent_p.A341A|TMPRSS4_uc010rxo.2_Silent_p.A344A|TMPRSS4_uc010rxs.2_Silent_p.A306A|TMPRSS4_uc010rxq.2_Silent_p.A199A|TMPRSS4_uc010rxr.2_Silent_p.A321A|TMPRSS4_uc010rxt.2_Silent_p.A321A	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	346	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGCTGCAGGCGTCAGTCCAGG	0.552													A	117985881	G	A	117985881	2	1	130	1	0	0	0	0	0	0	0	1	16349	1132	40	1		1	TMPRSS4	11	117985881	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	97537476	117985881	17020635	51	8719											
TECTA	7007	broad.mit.edu	37	chr11	120998873	120998873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttgacggcgcctcctaCgccttcccctccgagttctc	4	11	7	19	4	1	1	0	1	1	0	5	2	4	1	7	1	1	1	7	1	1	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr11:120998873C>T	uc010rzo.2	+	7	2187	c.2187C>T	c.(2185-2187)taC>taT	p.Y729Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	729	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix		p.Y729Y(2)	TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCGCCTCCTACGCCTTCCCCT	0.622													T	120998873	C	T	120998873	2	4	130	1	0	0	0	0	0	0	0	1	15847	547	19	1		1	TECTA	11	120998873	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	3012992	120998873	14007643	52	8720											
C12orf77	196415	broad.mit.edu	37	chr12	25148921	25148921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagttgcaggcatccatCgtatgctgtccagcgtctgc	7	10	12	12	2	1	0	0	0	1	0	4	1	3	1	2	2	4	5	2	2	1	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:25148921C>T	uc001rgf.3	-	2	432	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_001101339	NP_001094809	C9JDV5	CL097_HUMAN	Homo sapiens chromosome 12 open reading frame 77 (C12orf77), mRNA.	76										endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7						AGGCATCCATCGTATGCTGTC	0.502													T	25148921	C	T	25148921	3	4	130	1	0	0	0	0	1	0	0	0	1729	884	31	1	218	1	C12orf77	12	25148921	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		25148921	108702974	53	8721											
ACVRL1	94	broad.mit.edu	37	chr12	52309923	52309923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccgaggtgctggacgagcaGatccgcacggactgctttga	8	7	14	12	4	0	2	0	1	0	1	1	6	1	4	2	3	3	4	2	3	0	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:52309923G>A	uc001rzj.3	+	7	1435	c.1152G>A	c.(1150-1152)caG>caA	p.Q384Q	ACVRL1_uc001rzk.3_Silent_p.Q384Q|ACVRL1_uc010snm.2_Silent_p.Q210Q	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	384	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity	p.E383K(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	TGGACGAGCAGATCCGCACGG	0.602													A	52309923	G	A	52309923	2	1	130	1	0	0	0	0	0	0	0	1	225	933	33	2		2	ACVRL1	12	52309923	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	27161002	52309923	81541972	54	8722											
ESPL1	9700	broad.mit.edu	37	chr12	53687195	53687195	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaggcccgccaagctccCcgactcaagtatcttattgg	10	8	8	15	2	2	0	1	0	1	0	3	1	3	0	5	2	2	2	5	2	5	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:53687195C>T	uc001sck.2	+	30	6391	c.6300C>T	c.(6298-6300)ccC>ccT	p.P2100P	ESPL1_uc001scj.2_Silent_p.P1775P|PFDN5_uc001scl.3_5'Flank|PFDN5_uc001scm.3_5'Flank|PFDN5_uc001scn.3_5'Flank|PFDN5_uc001sco.3_5'Flank	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	2100					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GCCAAGCTCCCCGACTCAAGT	0.567													T	53687195	C	T	53687195	2	4	130	1	0	0	0	0	0	0	0	1	5294	610	22	2		2	ESPL1	12	53687195	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	1377272	53687195	80164700	55	8723											
SRRM4	84530	broad.mit.edu	37	chr12	119568488	119568488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccccatccccaggcaccGcggccggtcccctgaggaag	6	4	11	20	3	0	1	0	1	0	0	3	2	3	2	8	4	0	1	8	4	1	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:119568488G>A	uc001txa.2	+	7	1008	c.620G>A	c.(619-621)cGc>cAc	p.R207H		NM_194286	NP_919262	A7MD48	SRRM4_HUMAN	Homo sapiens serine/arginine repetitive matrix 4 (SRRM4), mRNA.	207	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding	p.R207H(2)|p.R207C(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CCCAGGCACCGCGGCCGGTCC	0.622													A	119568488	G	A	119568488	3	1	130	1	0	0	0	0	1	0	0	0	15267	1087	38	1	650	1	SRRM4	12	119568488	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	65881293	119568488	14283407	56	8724											
CIT	11113	broad.mit.edu	37	chr12	120138625	120138625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaatccacgaacactcCaaattctgcaaggtgtcaag	15	8	8	10	1	2	1	1	0	1	1	4	2	4	1	2	1	2	2	2	1	6	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr12:120138625C>T	uc001txj.2	-	43	5604	c.5548G>A	c.(5548-5550)Gga>Aga	p.G1850R	CIT_uc001txh.2_Missense_Mutation_p.G1327R|CIT_uc001txi.2_Missense_Mutation_p.G1808R	NM_001206999	NP_001193928	O14578	CTRO_HUMAN	Homo sapiens citron (rho-interacting, serine/threonine kinase 21) (CIT), transcript variant 1, mRNA.	1808	CNH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACGAACACTCCAAATTCTGCA	0.547													T	120138625	C	T	120138625	3	4	130	1	0	0	0	0	1	0	0	0	3469	603	21	2	681	2	CIT	12	120138625	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	570137	120138625	13713270	57	8725											
PAN3	255967	broad.mit.edu	37	chr13	28794510	28794510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgctactgctggattagCgccaggtaagttgagtaact	9	11	11	10	1	0	1	0	1	0	0	0	2	0	2	2	2	5	5	2	2	4	5			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr13:28794510C>T	uc001urz.3	+	5	1147	c.995C>T	c.(994-996)gCg>gTg	p.A332V	PAN3_uc010tdo.1_Missense_Mutation_p.A332V|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.A132V	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	332	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		GCTGGATTAGCGCCAGGTAAG	0.423													T	28794510	C	T	28794510	3	4	130	1	0	0	0	0	1	0	0	0	11491	768	27	1	1017	1	PAN3	13	28794510	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		28794510	86375368	58	8726											
TRIP11	9321	broad.mit.edu	37	chr14	92470681	92470681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttacttgctgttttaaCttgtcacgttcctgtagaag	7	19	7	8	1	2	1	1	0	1	1	3	1	3	1	1	0	3	4	1	0	4	9			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:92470681C>T	uc001xzy.3	-	10	4013	c.3639G>A	c.(3637-3639)aaG>aaA	p.K1213K	TRIP11_uc010auf.2_Silent_p.K949K	NM_004239	NP_004230	Q15643	TRIPB_HUMAN	Homo sapiens thyroid hormone receptor interactor 11 (TRIP11), mRNA.	1213					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity	p.K1213N(2)		breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		GCTGTTTTAACTTGTCACGTT	0.428			T	PDGFRB	AML								T	92470681	C	T	92470681	2	4	130	1	0	0	0	0	0	0	0	1	16656	564	20	2		2	TRIP11	14	92470681	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		92470681	14878859	59	8727											
PRIMA1	145270	broad.mit.edu	37	chr14	94203651	94203651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccagggaggcacagcataCggcaatgatgatcaccagcc	13	4	11	13	1	1	2	1	2	0	0	1	3	1	3	3	3	3	3	3	3	2	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:94203651C>T	uc001ybw.1	-	3	337	c.295G>A	c.(295-297)Gta>Ata	p.V99I	PRIMA1_uc001ybx.1_Non-coding_Transcript	NM_178013	NP_821092	Q86XR5	PRIMA_HUMAN	Homo sapiens proline rich membrane anchor 1 (PRIMA1), mRNA.	99					neurotransmitter catabolic process	cell junction|integral to membrane|synapse				endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		all_cancers(154;0.127)		Epithelial(152;0.138)|COAD - Colon adenocarcinoma(157;0.229)		GCACAGCATACGGCAATGATG	0.532													T	94203651	C	T	94203651	3	4	130	1	0	0	0	0	1	0	0	0	12578	536	19	1	174	1	PRIMA1	14	94203651	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	1732970	94203651	13145889	60	8728											
AKT1	207	broad.mit.edu	37	chr14	105241276	105241276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggctcccactcactGtgaggaaggggtgcctggag	7	8	15	11	0	2	1	1	1	1	0	3	3	3	3	2	5	1	1	2	5	1	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr14:105241276G>A	uc001ypk.3	-	7	1187	c.633_splice	c.e7+1	p.T211_splice	AKT1_uc001ypl.3_Splice_Site_p.T211_splice|AKT1_uc010axa.3_Splice_Site_p.T211_splice|AKT1_uc001ypm.3_Splice_Site_p.T211_splice|AKT1_uc001ypn.3_Splice_Site_p.T211_splice|AKT1_uc010tyk.2_Splice_Site_p.T149_splice	NM_005163	NP_005154	P31749	AKT1_HUMAN	Homo sapiens v-akt murine thymoma viral oncogene homolog 1 (AKT1), transcript variant 1, mRNA.	211	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	CCCACTCACTGTGAGGAAGGG	0.647		1	Mis		"breast, colorectal, ovarian, NSCLC"								A	105241276	G	A	105241276	3	1	130	1	0	0	0	0	1	0	0	0	478	1391	48	2	842	2	AKT1	14	105241276	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	11037625	105241276	2108264	61	8729											
GABRB3	2562	broad.mit.edu	37	chr15	26793162	26793162	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctctgtttcctgtactgGattcctgagttgtcaaagga	8	15	10	8	0	2	1	1	1	1	0	4	3	4	3	2	2	2	4	2	2	2	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:26793162G>T	uc001zbb.3	-	9	1471	c.1368C>A	c.(1366-1368)atC>atA	p.I456I	GABRB3_uc021sgg.1_Silent_p.I329I|GABRB3_uc021sgh.1_Silent_p.I315I|GABRB3_uc001zaz.3_Silent_p.I400I|GABRB3_uc001zba.3_Silent_p.I400I	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	400					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V455L(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCTGTACTGGATTCCTGAGT	0.512													T	26793162	G	T	26793162	2	4	130	1	0	0	0	0	0	0	0	1	6220	1164	41	4		4	GABRB3	15	26793162	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08		26793162	75738230	62	8730											
OTUD7A	161725	broad.mit.edu	37	chr15	31776752	31776752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggccacggagtcggcgCgcgtcttgtccttctccttg	2	13	13	13	5	2	0	0	0	2	0	5	1	3	1	3	3	0	1	3	3	0	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:31776752C>T	uc001zfq.3	-	10	1619	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	OTUD7A_uc001zfr.3_Missense_Mutation_p.R516H	NM_130901	NP_570971	Q8TE49	OTU7A_HUMAN	Homo sapiens OTU domain containing 7A (OTUD7A), mRNA.	509						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GGAGTCGGCGCGCGTcttgtc	0.592													T	31776752	C	T	31776752	3	4	130	1	0	0	0	0	1	0	0	0	11394	768	27	1	1258	1	OTUD7A	15	31776752	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	4983590	31776752	70754640	63	8731											
RYR3	6263	broad.mit.edu	37	chr15	33765674	33765674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcataaggagcagaggaagTtctgcctggcagccgaggga	11	7	15	8	1	2	1	1	0	1	1	2	5	2	4	2	4	3	3	2	4	2	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:33765674T>A	uc001zhi.3	+	1	176	c.106T>A	c.(106-108)Ttc>Atc	p.F36I	RYR3_uc010bar.3_Missense_Mutation_p.F36I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	36					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCAGAGGAAGTTCTGCCTGGC	0.547													A	33765674	T	A	33765674	3	1	130	1	0	0	0	0	1	0	0	0	13861	1725	60	5	112	5	RYR3	15	33765674	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	1988922	33765674	68765718	64	8732											
DUOX2	50506	broad.mit.edu	37	chr15	45386398	45386398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcggtcctgcctgttgaCgagctgacaggccttctcta	5	11	12	13	2	1	2	0	2	1	0	4	3	2	2	3	3	2	3	3	3	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr15:45386398C>T	uc001zun.3	-	33	4800	c.4597G>A	c.(4597-4599)Gtc>Atc	p.V1533I	DUOX2_uc010bea.3_Missense_Mutation_p.V1533I	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1533					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TGCCTGTTGACGAGCTGACAG	0.572													T	45386398	C	T	45386398	3	4	130	1	0	0	0	0	1	0	0	0	4840	536	19	1	53	1	DUOX2	15	45386398	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	11620724	45386398	57144994	65	8733											
CACNA1H	8912	broad.mit.edu	37	chr16	1262094	1262094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggaggaggcgcggcGgcgagaggagaagcggctgc	8	1	24	8	6	0	2	0	0	0	2	0	7	0	5	0	9	2	1	0	9	1	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:1262094G>A	uc002cks.3	+	24	4963	c.4715G>A	c.(4714-4716)cGg>cAg	p.R1572Q	CACNA1H_uc002ckt.3_Missense_Mutation_p.R1572Q|CACNA1H_uc002cku.3_Missense_Mutation_p.R278Q|CACNA1H_uc010brj.3_Missense_Mutation_p.R278Q|CACNA1H_uc002ckv.3_Missense_Mutation_p.R278Q	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1572					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GAGGCGCGGCGGCGAGAGGAG	0.682													A	1262094	G	A	1262094	3	1	130	1	0	0	0	0	1	0	0	0	2571	1116	39	1	4809	1	CACNA1H	16	1262094	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		1262094	89092659	66	8734											
PAQR4	124222	broad.mit.edu	37	chr16	3021625	3021625	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggctggcgtgctctcacCgccccctccaccagtgctcg	3	7	11	20	4	1	0	1	0	1	0	4	0	2	0	6	2	2	3	6	2	0	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:3021625C>A	uc002csj.4	+	2	832	c.498C>A	c.(496-498)acC>acA	p.T166T	PAQR4_uc002csk.4_Silent_p.T127T|PAQR4_uc002csl.4_Silent_p.T92T|PAQR4_uc010uwm.2_Silent_p.T97T	NM_152341	NP_689554	Q8N4S7	PAQR4_HUMAN	Homo sapiens progestin and adipoQ receptor family member IV (PAQR4), mRNA.	166						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						GTGCTCTCACCGCCCCCTCCA	0.697													A	3021625	C	A	3021625	2	1	130	1	0	0	0	0	0	0	0	1	11513	639	23	4		4	PAQR4	16	3021625	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	1759531	3021625	87333128	67	8735											
ZP2	7783	broad.mit.edu	37	chr16	21213466	21213466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcaggggtatgtggaaccGtaccagcccctgagactgag	10	8	13	10	1	1	2	1	2	0	1	1	4	1	3	4	3	3	2	4	3	3	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr16:21213466G>A	uc010bwn.1	-	10	1445	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	ZP2_uc002dii.2_Missense_Mutation_p.R416W	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	416	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		ATGTGGAACCGTACCAGCCCC	0.507													A	21213466	G	A	21213466	3	1	130	1	0	0	0	0	1	0	0	0	18315	1144	40	1	1027	1	ZP2	16	21213466	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	18191841	21213466	69141287	68	8736											
NF1	4763	broad.mit.edu	37	chr17	29556481	29556481	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttttgactcccaaggaCaggtaaagtgttctcttatt	10	16	8	7	0	1	1	0	1	1	0	3	2	2	2	1	2	0	3	1	2	4	7			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:29556481C>T	uc002hgg.3	+	20	3231	c.2848C>T	c.(2848-2850)Cag>Tag	p.Q950*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q950*|NF1_uc010csn.2_Nonsense_Mutation_p.Q810*|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	950					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.G949fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCCAAGGACAGGTAAAGTG	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29556481	C	T	29556481	4	4	130	1	0	0	0	0	0	1	0	0	10432	479	17	2	2991	2	NF1	17	29556481	Nonsense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		29556481	51638729	69	8737											
MARCH10	162333	broad.mit.edu	37	chr17	60865912	60865912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcccccaaaactgatcgcGtttcttctcatttgggtctc	6	15	7	13	2	3	1	1	1	3	0	6	1	3	1	2	1	2	1	2	1	2	4	rs146312903	byFrequency	TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr17:60865912G>A	uc010dds.3	-	2	424	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C	MARCH10_uc010ddr.3_Missense_Mutation_p.R47C|MARCH10_uc002jag.4_Missense_Mutation_p.R47C|MARCH10_uc002jah.2_Missense_Mutation_p.R47C	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	47							ligase activity|zinc ion binding	p.R47R(1)|p.R47H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AACTGATCGCGTTTCTTCTCA	0.443													A	60865912	G	A	60865912	3	1	130	1	0	0	0	0	1	0	0	0	9374	1145	40	1	2323	1	MARCH10	17	60865912	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	31309431	60865912	20329298	70	8738											
POTEC	388468	broad.mit.edu	37	chr18	14542738	14542738	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgtccagatcttctcgAcggacgtggtacctcggctc	6	11	11	13	4	2	1	0	0	2	1	6	3	3	2	2	3	2	3	2	3	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:14542738A>G	uc010dln.3	-	0	862	c.408T>C	c.(406-408)cgT>cgC	p.R136R	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	136										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GATCTTCTCGACGGACGTGGT	0.607													G	14542738	A	G	14542738	2	3	130	1	0	0	0	0	0	0	0	1	12339	262	10	3		3	POTEC	18	14542738	Silent	SNP	A	TCGA-14-0789-01A-01W-0424-08		14542738	63534510	71	8739											
ZNF532	55205	broad.mit.edu	37	chr18	56587754	56587754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatgcccctagatgaagaCccctccaaactgtgtagaca	12	7	8	14	0	0	4	0	1	0	3	1	4	1	4	6	0	2	1	6	0	4	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:56587754C>T	uc010xeg.2	+	2	2432	c.2235C>T	c.(2233-2235)gaC>gaT	p.D745D	ZNF532_uc002lhp.3_Silent_p.D743D|ZNF532_uc002lho.3_Silent_p.D745D|ZNF532_uc002lhr.3_Silent_p.D743D|ZNF532_uc002lhs.3_Silent_p.D743D	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	745					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TAGATGAAGACCCCTCCAAAC	0.483													T	56587754	C	T	56587754	2	4	130	1	0	0	0	0	0	0	0	1	18073	506	18	2		2	ZNF532	18	56587754	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	42045016	56587754	21489494	72	8740											
ZNF516	9658	broad.mit.edu	37	chr18	74154336	74154336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgccgggcccctgcgcGgtgatgtggtccctctcgat	2	9	14	16	5	1	1	0	1	1	0	3	2	2	1	5	3	2	1	5	3	0	0			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr18:74154336G>A	uc021ulp.1	-	2	993	c.675C>T	c.(673-675)acC>acT	p.T225T		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCCCCTGCGCGGTGATGTGGT	0.697													A	74154336	G	A	74154336	2	1	130	1	0	0	0	0	0	0	0	1	18061	1103	39	1		1	ZNF516	18	74154336	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	17566582	74154336	3922912	73	8741											
ACTL9	284382	broad.mit.edu	37	chr19	8807821	8807821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtagcatttgcggtacaCgatatagggaccctgttcct	9	12	10	10	2	1	0	1	0	0	0	2	2	2	1	2	2	3	4	2	2	4	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:8807821C>T	uc002mkl.2	-	0	1352	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	411						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						TTGCGGTACACGATATAGGGA	0.632													T	8807821	C	T	8807821	3	4	130	1	0	0	0	0	1	0	0	0	203	536	19	1	23	1	ACTL9	19	8807821	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08		8807821	50321162	74	8742											
LDLR	3949	broad.mit.edu	37	chr19	11224366	11224366	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgttgcggataccaaggGcgtgaagaggaaaacgttat	12	9	13	7	3	1	2	0	1	1	1	1	4	1	4	1	3	3	2	1	3	6	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:11224366G>C	uc002mqk.4	+	9	1701	c.1514G>C	c.(1513-1515)gGc>gCc	p.G505A	LDLR_uc010xlk.2_Missense_Mutation_p.G505A|LDLR_uc010xll.2_Missense_Mutation_p.G464A|LDLR_uc021upc.1_Missense_Mutation_p.G384A|LDLR_uc010xln.2_Missense_Mutation_p.G378A|LDLR_uc010xlo.2_Missense_Mutation_p.G337A|LDLR_uc010xlm.2_Missense_Mutation_p.G358A|LDLR_uc021upd.1_Missense_Mutation_p.G242A	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	505					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.K504R(1)|p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GATACCAAGGGCGTGAAGAGG	0.592													C	11224366	G	C	11224366	3	2	130	1	0	0	0	0	1	0	0	0	8763	1203	42	4	1552	4	LDLR	19	11224366	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	2416545	11224366	47904617	75	8743											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:12575498G>A	uc002mtv.4	-	3	1399	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_uc002mtw.4_Missense_Mutation_p.T381I|ZNF709_uc002mtx.4_Missense_Mutation_p.T413I	NM_152601	NP_689814	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 709 (ZNF709), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)|p.R412I(1)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													A	12575498	G	A	12575498	3	1	130	1	0	0	0	0	1	0	0	0	18214	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	1351132	12575498	46553485	76	8744											
GIPC1	10755	broad.mit.edu	37	chr19	14591540	14591540	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccgatctggcccccCaggagcttgtccatgtccac	6	8	9	18	1	1	0	0	0	1	0	4	2	4	1	7	2	2	1	7	2	0	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:14591540C>G	uc002myt.3	-	4	609	c.339G>C	c.(337-339)ctG>ctC	p.L113L	GIPC1_uc002myv.3_Silent_p.L16L|GIPC1_uc002myu.3_Silent_p.L113L|GIPC1_uc002myw.3_Silent_p.L16L|GIPC1_uc002myx.3_Silent_p.L113L|GIPC1_uc002myy.3_Silent_p.L16L	NM_005716	NP_974223	O14908	GIPC1_HUMAN	Homo sapiens GIPC PDZ domain containing family, member 1 (GIPC1), transcript variant 1, mRNA.	113					endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TCTGGCCCCCCAGGAGCTTGT	0.612											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	14591540	C	G	14591540	2	3	130	1	0	0	0	0	0	0	0	1	6448	581	21	4		4	GIPC1	19	14591540	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08	2016042	14591540	44537443	77	8745											
ZNF546	339327	broad.mit.edu	37	chr19	40521654	40521656	+	In_Frame_Del	DEL	ATC	ATC	-																															acttactttacatcagagaaAtcatattagtgaggaagtcc																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:40521654_40521656delATC	uc002oms.2	+	6	2733_2735	c.2477_2479delATC	c.(2476-2481)aatcat>aat	p.H827del	ZNF546_uc002omt.2_In_Frame_Del_p.H801del	NM_178544	NP_848639	Q86UE3	ZN546_HUMAN	Homo sapiens zinc finger protein 546 (ZNF546), mRNA.	827					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CATCAGAGAAATCATATTAGTGA	0.33													-	40521656	ATC	-	40521654	7	5	130	1	0	1	0	1	0	0	0	0	18079	101	4	0	2495	0	ZNF546	19	40521654	In_Frame_Del	DEL	ATC	TCGA-14-0789-01A-01W-0424-08	25930114	40521654	18607329	78	8746											
TSKS	60385	broad.mit.edu	37	chr19	50243159	50243159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagggagcacatcttcaaGtgtagatggtccagagtggc	10	9	15	7	0	2	2	1	0	1	2	3	4	3	4	1	4	1	2	1	4	2	2			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:50243159G>A	uc002ppm.3	-	10	1664	c.1653C>T	c.(1651-1653)caC>caT	p.H551H		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	551							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		ACATCTTCAAGTGTAGATGGT	0.592													A	50243159	G	A	50243159	2	1	130	1	0	0	0	0	0	0	0	1	16727	1020	36	2		2	TSKS	19	50243159	Silent	SNP	G	TCGA-14-0789-01A-01W-0424-08	9721505	50243159	8885824	79	8747											
FCAR	2204	broad.mit.edu	37	chr19	55385635	55385635	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtggaaattccctgaCgaggggctctgtcctcatac	9	11	11	10	1	2	2	1	1	1	1	4	4	4	3	2	3	1	1	2	3	3	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr19:55385635C>T	uc002qhr.1	+	0					FCAR_uc021vbp.1_Non-coding_Transcript|FCAR_uc002qhq.3_5'UTR|FCAR_uc002qhs.1_Non-coding_Transcript|FCAR_uc002qht.1_5'UTR|FCAR_uc010esi.1_5'UTR|FCAR_uc002qhu.1_5'UTR|FCAR_uc002qhv.1_5'UTR|FCAR_uc002qhw.1_5'UTR|FCAR_uc002qhx.1_5'UTR|FCAR_uc002qhy.1_5'UTR|FCAR_uc002qhz.1_5'UTR|FCAR_uc002qia.1_5'UTR	NM_002000	NP_001991	P24071	FCAR_HUMAN	Homo sapiens Fc fragment of IgA, receptor for (FCAR), transcript variant 1, mRNA.						immune response	extracellular region|integral to plasma membrane	IgA binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(2)	24				GBM - Glioblastoma multiforme(193;0.0443)		AATTCCCTGACGAGGGGCTCT	0.498													T	55385635	C	T	55385635	1	4	130	1	0	0	0	0	0	0	0	0	5822	551	19	1		1	FCAR	19	55385635	Translation_Start_Site	SNP	C	TCGA-14-0789-01A-01W-0424-08	5142476	55385635	3743348	80	8748											
PTPRA	5786	broad.mit.edu	37	chr20	2969091	2969091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaaccggagaatggcagacGacaataagctcttcagggag	14	7	12	8	2	2	2	1	0	1	2	2	5	2	3	1	3	2	2	1	3	4	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:2969091G>A	uc010zqd.2	+	7	1059	c.742G>A	c.(742-744)Gac>Aac	p.D248N	PTPRA_uc002whj.3_Missense_Mutation_p.D237N|PTPRA_uc010zqc.1_Missense_Mutation_p.D122N|PTPRA_uc002whk.3_Missense_Mutation_p.D228N|PTPRA_uc002whl.3_Missense_Mutation_p.D228N|PTPRA_uc002whm.3_Missense_Mutation_p.D4N|PTPRA_uc002whn.3_Missense_Mutation_p.D228N|PTPRA_uc002who.3_5'UTR	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	237	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity	p.D237N(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AATGGCAGACGACAATAAGCT	0.507													A	2969091	G	A	2969091	3	1	130	1	0	0	0	0	1	0	0	0	12883	1058	37	1	731	1	PTPRA	20	2969091	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08		2969091	60056429	81	8749											
RBPJL	11317	broad.mit.edu	37	chr20	43936814	43936814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcccaatcctttgactcaCctgagcctgcaggacagatc	9	9	7	16	0	1	3	1	2	0	1	4	4	3	4	5	1	2	1	5	1	1	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:43936814C>A	uc002xns.3	+	1	126	c.54C>A	c.(52-54)caC>caA	p.H18Q	MATN4_uc002xnp.2_Intron|MATN4_uc002xnn.2_Intron|MATN4_uc002xno.2_Intron|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_Splice_Site|RBPJL_uc002xnt.3_Missense_Mutation_p.H18Q	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	18					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CTTTGACTCACCTGAGCCTGC	0.627													A	43936814	C	A	43936814	3	1	130	1	0	0	0	0	1	0	0	0	13250	521	18	4	60	4	RBPJL	20	43936814	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	40967723	43936814	19088706	82	8750											
NCOA5	57727	broad.mit.edu	37	chr20	44698964	44698964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtctctaagatccctcaCgtcccgaacgtcgcgcacac	11	7	7	16	5	2	1	1	0	1	1	6	2	4	1	2	0	1	1	2	0	3	1			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chr20:44698964C>T	uc002xrd.3	-	1	778	c.250G>A	c.(250-252)Gtg>Atg	p.V84M	NCOA5_uc002xrc.3_5'UTR|NCOA5_uc002xre.3_Missense_Mutation_p.V84M	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	84	Arg/Asp-rich (mixed charge).|Transcription repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AGATCCCTCACGTCCCGAACG	0.532													T	44698964	C	T	44698964	3	4	130	1	0	0	0	0	1	0	0	0	10308	536	19	1	1513	1	NCOA5	20	44698964	Missense_Mutation	SNP	C	TCGA-14-0789-01A-01W-0424-08	762150	44698964	18326556	83	8751											
TLR7	51284	broad.mit.edu	37	chrX	12904281	12904281	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagataacaatgtcacagcCgtccctactgttttgccatc	12	11	6	12	1	1	1	1	0	0	1	3	1	2	1	3	0	4	1	3	0	4	4			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:12904281C>T	uc004cvc.3	+	2	793	c.654C>T	c.(652-654)gcC>gcT	p.A218A		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	218					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	ATGTCACAGCCGTCCCTACTG	0.343													T	12904281	C	T	12904281	2	4	130	1	0	0	0	0	0	0	0	1	16056	639	23	1		1	TLR7	23	12904281	Silent	SNP	C	TCGA-14-0789-01A-01W-0424-08		12904281	142366279	84	8752											
ZRSR2	8233	broad.mit.edu	37	chrX	15840971	15840971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctacttgtctccagatcGgactggctcctcctttggga	6	13	9	13	1	2	1	0	0	2	1	6	3	4	3	3	3	1	1	3	3	1	3			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:15840971G>A	uc004cxg.4	+	10	1100	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	352					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCTCCAGATCGGACTGGCTCC	0.502			"F, S, Mis"		"MDS, CLL"								A	15840971	G	A	15840971	3	1	130	1	0	0	0	0	1	0	0	0	18324	1116	39	1	1097	1	ZRSR2	23	15840971	Missense_Mutation	SNP	G	TCGA-14-0789-01A-01W-0424-08	2936690	15840971	139429589	85	8753											
POF1B	79983	broad.mit.edu	37	chrX	84634327	84634327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgctcatacactacattttTttctggaggctgctgggctt	6	16	9	10	1	2	0	1	0	1	0	3	1	2	1	0	3	3	4	0	3	2	6			TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:84634327T>G	uc004eer.2	-	1	279	c.133A>C	c.(133-135)Aaa>Caa	p.K45Q	POF1B_uc004ees.3_Missense_Mutation_p.K45Q	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	45							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						ACTACATTTTTTTCTGGAGGC	0.577													G	84634327	T	G	84634327	3	3	130	1	0	0	0	0	1	0	0	0	12259	1850	64	5	1700	5	POF1B	23	84634327	Missense_Mutation	SNP	T	TCGA-14-0789-01A-01W-0424-08	68793356	84634327	70636233	86	8754											
THOC2	57187	broad.mit.edu	37	chrX	122748018	122748020	+	In_Frame_Del	DEL	GGA	GGA	-																															ccttactcttggacagtggtGgaggagtatgattaatgtag																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:122748018_122748020delGGA	uc004etu.3	-	33	4364_4366	c.4332_4334delTCC	c.(4330-4335)cctcca>cca	p.1444_1445PP>P	THOC2_uc010nqt.1_Non-coding_Transcript|THOC2_uc004etw.1_In_Frame_Del_p.265_266PP>P	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1444	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GGACAGTGGTGGAGGAGTATGAT	0.355													-	122748020	GGA	-	122748018	7	5	130	1	0	1	0	1	0	0	0	0	15965	1348	47	0	467	0	THOC2	23	122748018	In_Frame_Del	DEL	GGA	TCGA-14-0789-01A-01W-0424-08	38113691	122748018	32522542	87	8755											
STAG2	10735	broad.mit.edu	37	chrX	123176470	123176471	+	Frame_Shift_Ins	INS	-	-	A																															cagaactctgagataattcgINSaaaaatgactgaagaattcg																										TCGA-14-0789-01A-01W-0424-08	TCGA-14-0789-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3462087f-f791-43b4-b9d9-b11cc48eaf9e	221ae08d-6862-47d4-9b1d-099cb3dd9e57	g.chrX:123176470_123176471insA	uc004eua.3	+	6	841_842	c.437_438insA	c.(436-438)cgafs	p.R146fs	STAG2_uc004etz.4_Frame_Shift_Ins_p.R146fs|STAG2_uc004eub.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004euc.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eud.3_Frame_Shift_Ins_p.R146fs|STAG2_uc004eue.3_Frame_Shift_Ins_p.R146fs	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	146					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GAGATAATTCGAAAAATGACTG	0.287													A	123176471	-	A	123176470	7	5	130	1	0	1	1	0	0	0	0	0	15339	1058	37	0	455	0	STAG2	23	123176470	Frame_Shift_Ins	INS	-	TCGA-14-0789-01A-01W-0424-08	428452	123176470	32094090	88	8756											
ZCCHC17	51538	broad.mit.edu	37	chr1	31810124	31810125	+	Splice_Site	INS	-	-	A																															aagcttattggccgagaggtINSaaagttctgtgcggctccct																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:31810124_31810125insA	uc001bsp.1	+	4	361	c.225_splice	c.e4+2	p.E75_splice	ZCCHC17_uc001bsq.1_Splice_Site_p.E67_splice|ZCCHC17_uc010ogf.1_Splice_Site_p.E51_splice|ZCCHC17_uc009vtu.1_Splice_Site_p.E51_splice|ZCCHC17_uc001bsr.1_Splice_Site_p.E75_splice|ZCCHC17_uc009vtv.1_Splice_Site_p.E51_splice	NM_016505	NP_057589	Q9NP64	NO40_HUMAN	Homo sapiens zinc finger, CCHC domain containing 17 (ZCCHC17), mRNA.	75	S1 motif.					nucleolus	RNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(2)|ovary(1)|skin(1)	6		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)|all_neural(195;0.146)|Medulloblastoma(700;0.151)|Breast(348;0.222)		STAD - Stomach adenocarcinoma(196;0.0215)|READ - Rectum adenocarcinoma(331;0.168)		GGCCGAGAGGTAAAGTTCTGTG	0.426													A	31810125	-	A	31810124	8	5	131	1	0	1	1	0	0	0	1	0	17686	1652	57	0	237	0	ZCCHC17	1	31810124	Splice_Site	INS	-	TCGA-14-0790-01B-01D-1494-08		31810124	217440497	1	8757											
RPL5	6125	broad.mit.edu	37	chr1	93300358	93300358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcttatgcccgtatagaggGggatatgatagtctgcgcag	9	11	14	7	2	1	2	0	1	1	1	1	3	1	3	1	2	3	3	1	2	5	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:93300358G>A	uc001doz.3	+	3	290	c.212G>A	c.(211-213)gGg>gAg	p.G71E	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.G21E|RPL5_uc001dpd.3_5'Flank|SNORD21_uc001dpe.2_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	71					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		CGTATAGAGGGGGATATGATA	0.413													A	93300358	G	A	93300358	3	1	131	1	0	0	0	0	1	0	0	0	13688	1232	43	2	226	2	RPL5	1	93300358	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	61490234	93300358	155950263	2	8758											
BCAR3	8412	broad.mit.edu	37	chr1	94032953	94032953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtttttttcccacatgtCggttccttcaaaagtcacag	8	15	7	11	2	2	0	2	0	0	0	6	0	4	0	2	1	0	2	2	1	2	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:94032953C>T	uc001dpz.3	-	10	2457	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	BCAR3_uc001dqa.3_Missense_Mutation_p.D728N|BCAR3_uc001dqb.3_Missense_Mutation_p.D728N|BCAR3_uc001dpx.4_Missense_Mutation_p.D404N|BCAR3_uc001dpy.3_Missense_Mutation_p.D637N	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	728	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TCCCACATGTCGGTTCCTTCA	0.512													T	94032953	C	T	94032953	3	4	131	1	0	0	0	0	1	0	0	0	1354	884	31	1	303	1	BCAR3	1	94032953	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	732595	94032953	155217668	3	8759											
S1PR1	1901	broad.mit.edu	37	chr1	101705315	101705317	+	In_Frame_Del	DEL	ATT	ATT	-																															tggcgctgctcaagaccgtaAttatcgtcctgagcgtcttc																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:101705315_101705317delATT	uc021oqt.1	+	0	775_777	c.775_777delATT	c.(775-777)attdel	p.I260del	S1PR1_uc001dud.2_In_Frame_Del_p.I260del|S1PR1_uc009weg.2_In_Frame_Del_p.I260del	NM_001400	NP_001391	P21453	S1PR1_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 1 (S1PR1), mRNA.	260					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity	p.I260I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						CAAGACCGTAATTATCGTCCTGA	0.591													-	101705317	ATT	-	101705315	7	5	131	1	0	1	0	1	0	0	0	0	13884	101	4	0	777	0	S1PR1	1	101705315	In_Frame_Del	DEL	ATT	TCGA-14-0790-01B-01D-1494-08	7672362	101705315	147545306	4	8760											
CD58	965	broad.mit.edu	37	chr1	117078713	117078713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatatactggttgagttacGtttacattgctccataggac	11	15	8	7	1	0	1	0	1	0	0	1	2	1	2	1	2	4	4	1	2	6	9			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:117078713G>A	uc001egm.3	-	2	623	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	CD58_uc001egn.3_Non-coding_Transcript|CD58_uc010owy.2_Missense_Mutation_p.R168C|CD58_uc001ego.1_Intron|CD58_uc001egp.4_Missense_Mutation_p.R168C	NM_001779	NP_001770	P19256	LFA3_HUMAN	Homo sapiens CD58 molecule (CD58), transcript variant 1, mRNA.	168	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		GTTGAGTTACGTTTACATTGC	0.343													A	117078713	G	A	117078713	3	1	131	1	0	0	0	0	1	0	0	0	3055	1145	40	1	270	1	CD58	1	117078713	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	15373398	117078713	132171908	5	8761											
SPAG17	200162	broad.mit.edu	37	chr1	118623774	118623774	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctctcctgctctaacAgctgtctattatcagggact	8	14	8	11	0	4	1	1	1	3	0	5	2	4	2	1	1	4	3	1	1	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118623774A>T	uc001ehk.2	-	14	2227	c.2159T>A	c.(2158-2160)cTg>cAg	p.L720Q	SPAG17_uc021oss.1_Missense_Mutation_p.L41Q	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	720						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCTAACAGCTGTCTATT	0.443													T	118623774	A	T	118623774	3	4	131	1	0	0	0	0	1	0	0	0	15075	188	7	5	4648	5	SPAG17	1	118623774	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	1545061	118623774	130626847	6	8762											
SPAG17	200162	broad.mit.edu	37	chr1	118628591	118628591	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaattgtagctagacgtttAgtgttgttccatggtggggg	7	15	15	4	1	0	2	0	1	0	1	1	2	1	2	1	3	1	5	1	3	4	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:118628591A>C	uc001ehk.2	-	12	1784	c.1716T>G	c.(1714-1716)acT>acG	p.T572T		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	572						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGACGTTTAGTGTTGTTCC	0.388													C	118628591	A	C	118628591	2	2	131	1	0	0	0	0	0	0	0	1	15075	407	15	5		5	SPAG17	1	118628591	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08	4817	118628591	130622030	7	8763											
SPTA1	6708	broad.mit.edu	37	chr1	158655079	158655079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagtcaacacttcctgaCgcctctcctggatctcttct	7	12	6	16	2	4	1	1	1	3	0	7	3	5	2	4	1	1	0	4	1	1	2	rs121918641		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:158655079C>T	uc001fst.1	-	1	282	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	28			R -> C (in EL2).|R -> H (in EL2; Corbeil; dbSNP:rs28934004).|R -> L (in EL2).|R -> S (in EL2; dbSNP:rs28934005).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CACTTCCTGACGCCTCTCCTG	0.458													T	158655079	C	T	158655079	3	4	131	1	0	0	0	0	1	0	0	0	15212	536	19	1	7380	1	SPTA1	1	158655079	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	40026488	158655079	90595542	8	8764											
LEFTY2	7044	broad.mit.edu	37	chr1	226127121	226127121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccccaagcccggctggcGccccctgcgaggcaaagcgg	6	3	14	18	4	0	0	0	0	0	0	1	1	1	0	5	4	3	3	5	4	2	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr1:226127121G>A	uc001hpt.2	-	2	920	c.677C>T	c.(676-678)gCg>gTg	p.A226V	LEFTY2_uc010pvk.2_Missense_Mutation_p.A192V|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	226					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					CCCGGCTGGCGCCCCCTGCGA	0.701													A	226127121	G	A	226127121	3	1	131	1	0	0	0	0	1	0	0	0	8775	1087	38	1	431	1	LEFTY2	1	226127121	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	67472042	226127121	23123500	9	8765											
KIDINS220	57498	broad.mit.edu	37	chr2	8943255	8943255	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaataagtgcagtcattgaAttctaaaaacaacaacaaca	21	8	4	8	0	2	1	1	1	1	0	2	1	2	1	0	0	5	1	0	0	9	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:8943255A>G	uc002qzc.2	-	7	788	c.606T>C	c.(604-606)aaT>aaC	p.N202N	KIDINS220_uc010yiv.1_Silent_p.N11N|KIDINS220_uc002qzd.2_Silent_p.N160N|KIDINS220_uc010yiw.1_Silent_p.N203N	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	202					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CAGTCATTGAATTCTAAAAAC	0.299													G	8943255	A	G	8943255	2	3	131	1	0	0	0	0	0	0	0	1	8329	98	4	3		3	KIDINS220	2	8943255	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08		8943255	234256118	10	8766											
IL18RAP	8807	broad.mit.edu	37	chr2	103068411	103068411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaagagccagagtctctaCctcatctcgtgaaaaaagct	13	9	7	12	1	3	3	1	1	2	2	6	3	4	3	3	0	3	1	3	0	5	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:103068411C>T	uc002tbx.3	+	11	2054	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	IL18RAP_uc010fiz.3_Missense_Mutation_p.P382S	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	524	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.P524S(2)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						AGAGTCTCTACCTCATCTCGT	0.418													T	103068411	C	T	103068411	3	4	131	1	0	0	0	0	1	0	0	0	7706	507	18	2	1608	2	IL18RAP	2	103068411	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	94125156	103068411	140130962	11	8767											
LIMS1	3987	broad.mit.edu	37	chr2	109292448	109292448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggcccatcgaagggcgCgtggtgaacgctatgggcaa	9	5	16	11	6	0	1	0	1	0	0	1	3	0	1	1	4	1	2	1	4	4	1	rs111779374		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:109292448C>T	uc002teg.3	+	5	738	c.609C>T	c.(607-609)cgC>cgT	p.R203R	LIMS1_uc002tel.3_Silent_p.R215R|LIMS1_uc002teh.3_Silent_p.R203R|LIMS1_uc002tei.3_Silent_p.R207R|LIMS1_uc002tej.3_Silent_p.R240R|LIMS1_uc002tek.4_Silent_p.R265R	NM_004987	NP_004978	P48059	LIMS1_HUMAN	Homo sapiens LIM and senescent cell antigen-like domains 1 (LIMS1), transcript variant 2, mRNA.	203	LIM zinc-binding 4.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						TCGAAGGGCGCGTGGTGAACG	0.537													T	109292448	C	T	109292448	2	4	131	1	0	0	0	0	0	0	0	1	8863	755	27	1		1	LIMS1	2	109292448	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	6224037	109292448	133906925	12	8768											
DPP10	57628	broad.mit.edu	37	chr2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaagtagaggactccGtcttgcagtacgcggcctgg	8	8	13	12	3	1	2	0	0	1	2	3	3	3	3	3	3	2	3	3	3	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr2:116447456G>A	uc002tle.3	+	6	568	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	179					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438													A	116447456	G	A	116447456	3	1	131	1	0	0	0	0	1	0	0	0	4766	1145	40	1	732	1	DPP10	2	116447456	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	7155008	116447456	126751917	13	8769											
CYP8B1	1582	broad.mit.edu	37	chr3	42916850	42916850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagactccagcctttggaCgtcagcattacaaaggacag	12	8	9	12	1	1	1	1	0	0	1	3	3	3	3	3	2	3	1	3	2	2	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:42916850C>T	uc003cmh.3	-	0	784	c.459G>A	c.(457-459)acG>acA	p.T153T	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	153					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		AGCCTTTGGACGTCAGCATTA	0.512													T	42916850	C	T	42916850	2	4	131	1	0	0	0	0	0	0	0	1	4231	523	19	1		1	CYP8B1	3	42916850	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08		42916850	155105580	14	8770											
MYLK	4638	broad.mit.edu	37	chr3	123376130	123376130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtggctagttccttccaCgtcttgttggctgagtccca	5	14	10	12	1	1	1	0	1	1	0	4	1	4	1	3	2	0	4	3	2	1	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:123376130C>T	uc003ego.3	-	23	4413	c.4131G>A	c.(4129-4131)acG>acA	p.T1377T	MYLK_uc010hrr.3_5'UTR|MYLK_uc011bjv.2_Silent_p.T177T|MYLK_uc011bjw.2_Silent_p.T1377T|MYLK_uc003egp.3_Silent_p.T1308T|MYLK_uc003egq.3_Silent_p.T1377T|MYLK_uc003egr.3_Silent_p.T1308T|MYLK_uc003egs.3_Silent_p.T1201T	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1377	Actin-binding (calcium/calmodulin- insensitive) (By similarity).|Fibronectin type-III.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GTTCCTTCCACGTCTTGTTGG	0.542													T	123376130	C	T	123376130	2	4	131	1	0	0	0	0	0	0	0	1	10132	523	19	1		1	MYLK	3	123376130	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	80459280	123376130	74646300	15	8771											
RTP1	132112	broad.mit.edu	37	chr3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcatccacgtggccagcCgccaggacaaccggcggcac	9	2	12	18	5	0	0	0	0	0	0	1	1	1	1	6	4	2	2	6	4	1	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr3:186917604C>T	uc003frg.3	+	1	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682													T	186917604	C	T	186917604	3	4	131	1	0	0	0	0	1	0	0	0	13824	652	23	1	544	1	RTP1	3	186917604	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	63541474	186917604	11104826	16	8772											
HPSE	10855	broad.mit.edu	37	chr4	84223384	84223384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgccattaacaccttggtgCccaccaatttcttgaacaga	11	12	6	12	0	1	2	0	1	1	1	1	2	1	2	4	1	4	0	4	1	3	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:84223384C>T	uc003hoj.4	-	9	1343	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	HPSE_uc003hoi.3_Missense_Mutation_p.G357D|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.G158D|HPSE_uc003hok.4_Missense_Mutation_p.G415D|HPSE_uc011cct.2_Missense_Mutation_p.G341D	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	415					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	CACCTTGGTGCCCACCAATTT	0.403													T	84223384	C	T	84223384	3	4	131	1	0	0	0	0	1	0	0	0	7399	739	26	2	399	2	HPSE	4	84223384	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		84223384	106930892	17	8773											
ZFP42	132625	broad.mit.edu	37	chr4	188924752	188924752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggactttaatttgcgtaCgcacgtgcgcatccacacgg	8	11	10	12	5	1	0	0	0	1	0	2	1	2	1	1	2	3	3	1	2	2	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr4:188924752C>T	uc003izh.1	+	3	1199	c.791C>T	c.(790-792)aCg>aTg	p.T264M	ZFP42_uc003izi.1_Missense_Mutation_p.T264M|ZFP42_uc021xvm.1_Missense_Mutation_p.T264M	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	264					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AATTTGCGTACGCACGTGCGC	0.483													T	188924752	C	T	188924752	3	4	131	1	0	0	0	0	1	0	0	0	17751	536	19	1	793	1	ZFP42	4	188924752	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	104701368	188924752	2229524	18	8774											
AHRR	57491	broad.mit.edu	37	chr5	422883	422883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttatgactacatccacGtggacgaccgccaggacttc	11	9	8	13	3	0	1	0	1	0	0	2	4	1	3	3	2	1	0	3	2	2	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:422883G>A	uc003jav.3	+	5	536	c.493G>A	c.(493-495)Gtg>Atg	p.V165M	AHRR_uc003jaw.3_Missense_Mutation_p.V165M|AHRR_uc010isy.3_Missense_Mutation_p.V11M|AHRR_uc010isz.3_Missense_Mutation_p.V161M|AHRR_uc003jax.3_5'UTR|AHRR_uc003jay.3_Missense_Mutation_p.V21M	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	165	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CTACATCCACGTGGACGACCG	0.547													A	422883	G	A	422883	3	1	131	1	0	0	0	0	1	0	0	0	417	1145	40	1	515	1	AHRR	5	422883	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		422883	180492377	19	8775											
MAP3K1	4214	broad.mit.edu	37	chr5	56160697	56160697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttactgcagcagatagggcCtaactctttcctgattggag	9	12	10	10	0	1	2	0	1	1	1	2	3	2	3	2	2	4	2	2	2	3	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:56160697C>T	uc003jqw.4	+	3	1472	c.971C>T	c.(970-972)cCt>cTt	p.P324L		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	324					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAGATAGGGCCTAACTCTTTC	0.468													T	56160697	C	T	56160697	3	4	131	1	0	0	0	0	1	0	0	0	9318	681	24	2	985	2	MAP3K1	5	56160697	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	55737814	56160697	124754563	20	8776											
PIK3R1	5295	broad.mit.edu	37	chr5	67576379	67576379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaagctccgaagaatatAttcagctattgaagaagctt	16	11	7	7	1	1	3	1	1	0	2	2	4	2	3	1	0	4	3	1	0	9	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:67576379A>T	uc003jva.3	+	5	1238	c.658A>T	c.(658-660)Att>Ttt	p.I220F		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	220	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAAGAATATATTCAGCTATT	0.343			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67576379	A	T	67576379	3	4	131	1	0	0	0	0	1	0	0	0	11995	449	16	5	676	5	PIK3R1	5	67576379	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	11415682	67576379	113338881	21	8777											
ZNF608	57507	broad.mit.edu	37	chr5	123984804	123984804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctctcatctccaggtCacttgtcggtgactcacaaa	8	10	7	16	1	4	1	3	1	2	0	7	1	4	1	3	2	0	0	3	2	1	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:123984804C>A	uc003ktq.1	-	3	1456	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D425Y|ZNF608_uc003ktt.1_Missense_Mutation_p.D425Y	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	425						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		ATCTCCAGGTCACTTGTCGGT	0.552													A	123984804	C	A	123984804	3	1	131	1	0	0	0	0	1	0	0	0	18135	826	29	4	3289	4	ZNF608	5	123984804	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	56408425	123984804	56930456	22	8778											
FBXO38	81545	broad.mit.edu	37	chr5	147781654	147781654	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaagagtaaggggccatgaGgcttttagcattccaggagt	11	9	14	7	1	0	2	0	1	0	1	1	4	1	3	2	4	1	3	2	4	3	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr5:147781654G>A	uc003lpf.1	+	3	492	c.372G>A	c.(370-372)gaG>gaA	p.E124E	FBXO38_uc003lpg.1_Silent_p.E124E|FBXO38_uc003lph.2_Silent_p.E124E	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	124						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGCCATGAGGCTTTTAGCA	0.448													A	147781654	G	A	147781654	2	1	131	1	0	0	0	0	0	0	0	1	5795	991	35	2		2	FBXO38	5	147781654	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	23796850	147781654	33133606	23	8779											
NDUFAF4	29078	broad.mit.edu	37	chr6	97344693	97344693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcagcttttcatctttaCgagcaatctctcctttaact	10	15	4	12	1	3	0	1	0	2	0	5	1	4	0	1	0	5	3	1	0	3	6	rs142963790		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:97344693C>T	uc003pow.3	-	1	257	c.167G>A	c.(166-168)cGt>cAt	p.R56H	NDUFAF4_uc003pov.3_Non-coding_Transcript	NM_014165	NP_054884	Q9P032	NDUF4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 4 (NDUFAF4), nuclear gene encoding mitochondrial protein, mRNA.	56					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TTCATCTTTACGAGCAATCTC	0.333													T	97344693	C	T	97344693	3	4	131	1	0	0	0	0	1	0	0	0	10353	536	19	1	368	1	NDUFAF4	6	97344693	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		97344693	73770374	24	8780											
GRM1	2911	broad.mit.edu	37	chr6	146755476	146755476	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcagcaacttcagtacCgcgatcccggattttcacgc	8	10	10	13	4	3	0	3	0	0	0	4	2	4	1	2	2	3	2	2	2	2	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:146755476C>A	uc010khw.1	+	8	3599	c.3129C>A	c.(3127-3129)acC>acA	p.T1043T	GRM1_uc010khv.1_3'UTR|GRM1_uc003qll.2_3'UTR|GRM1_uc011edz.1_3'UTR|GRM1_uc011eea.1_3'UTR	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	1043					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	ACTTCAGTACCGCGATCCCGG	0.672													A	146755476	C	A	146755476	2	1	131	1	0	0	0	0	0	0	0	1	6851	639	23	4		4	GRM1	6	146755476	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	49410783	146755476	24359591	25	8781											
TIAM2	26230	broad.mit.edu	37	chr6	155566797	155566797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctttcctttattacgCggaccactttaaactgtaca	10	14	6	11	2	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	5	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr6:155566797C>T	uc003qqb.3	+	20	4857	c.3584C>T	c.(3583-3585)gCg>gTg	p.A1195V	TIAM2_uc003qqe.3_Missense_Mutation_p.A1195V|TIAM2_uc010kjj.3_Missense_Mutation_p.A728V|TIAM2_uc003qqf.3_Missense_Mutation_p.A571V|TIAM2_uc011efl.1_Missense_Mutation_p.A531V|TIAM2_uc003qqg.3_Missense_Mutation_p.A507V|TIAM2_uc003qqh.3_Missense_Mutation_p.A120V	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	1195	DH.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A1195V(2)|p.Y1194Y(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTTTATTACGCGGACCACTTT	0.403													T	155566797	C	T	155566797	3	4	131	1	0	0	0	0	1	0	0	0	15991	768	27	1	3646	1	TIAM2	6	155566797	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	8811321	155566797	15548270	26	8782											
ZPBP	11055	broad.mit.edu	37	chr7	50097645	50097645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccacagtaggtttatattCgaggaaacatgtataaattc	14	14	7	6	1	0	0	0	0	0	0	3	2	1	1	1	2	1	3	1	2	7	9	rs148913753		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:50097645C>T	uc003tou.3	-	3	497	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K	ZPBP_uc010kyw.3_Missense_Mutation_p.E142K	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	143					binding of sperm to zona pellucida	extracellular region		p.L142L(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					GGTTTATATTCGAGGAAACAT	0.328													T	50097645	C	T	50097645	3	4	131	1	0	0	0	0	1	0	0	0	18318	893	31	1	648	1	ZPBP	7	50097645	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		50097645	109041018	27	8783											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	131	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	5124177	55221822	103916841	28	8784											
EPO	2056	broad.mit.edu	37	chr7	100319586	100319586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgtgtgcatttcagaCgggctgtgctgaacactgca	7	10	14	10	2	1	2	1	1	0	1	1	2	1	2	0	2	4	5	0	2	1	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:100319586C>T	uc003uwi.3	+	3	341	c.160_splice	c.e3-1	p.T54_splice	EPO_uc011kkc.1_Splice_Site_p.T54_splice	NM_000799	NP_000790	P01588	EPO_HUMAN	Homo sapiens erythropoietin (EPO), mRNA.	54					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	GCATTTCAGACGGGCTGTGCT	0.532													T	100319586	C	T	100319586	3	4	131	1	0	0	0	0	1	0	0	0	5229	550	19	1	171	1	EPO	7	100319586	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	45097764	100319586	58819077	29	8785											
LAMB1	3912	broad.mit.edu	37	chr7	107575937	107575937	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgagcctgctcctcttGtttttccttgaactgggatt	5	15	11	10	1	1	1	0	1	1	0	3	4	3	2	3	2	3	2	3	2	1	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:107575937G>A	uc003vev.2	-	24	4344	c.4183C>T	c.(4183-4185)Caa>Taa	p.Q1395*	LAMB1_uc003vew.2_Nonsense_Mutation_p.Q1371*	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1371	Domain II.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGCTCCTCTTGTTTTTCCTTG	0.532													A	107575937	G	A	107575937	4	1	131	1	0	0	0	0	0	1	0	0	8669	1386	48	2	1281	2	LAMB1	7	107575937	Nonsense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	7256351	107575937	51562726	30	8786											
ASZ1	136991	broad.mit.edu	37	chr7	117024875	117024875	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttcaagcaacttcaaaaCtatatttttatgaccctgac	15	13	4	9	0	2	2	2	2	0	0	2	2	2	2	1	0	3	2	1	0	8	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr7:117024875C>G	uc003vjb.2	-	5	655	c.592G>C	c.(592-594)Gtt>Ctt	p.V198L	ASZ1_uc011kno.1_Missense_Mutation_p.V198L|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	198					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AACTTCAAAACTATATTTTTA	0.383													G	117024875	C	G	117024875	3	3	131	1	0	0	0	0	1	0	0	0	1074	565	20	4	867	4	ASZ1	7	117024875	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	9448938	117024875	42113788	31	8787											
IFNA10	3446	broad.mit.edu	37	chr9	21206859	21206859	+	Missense_Mutation	SNP	G	G	A																															ctgctggatcatctcatggaGgacagagatggcttgagcct																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206859G>A	uc003zoq.1	-	0	284	c.238C>T	c.(238-240)Ctc>Ttc	p.L80F	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	80					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.L80F(2)|p.V79A(2)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		ATCTCATGGAGGACAGAGATG	0.483													A	21206859	G	A	21206859	3	1	131	1	0	0	0	0	1	0	0	0	7590	1000	35	2	335	2	IFNA10	9	21206859	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		21206859	120006572	32	8788	13	2									
IFNA10	3446	broad.mit.edu	37	chr9	21206861	21206861	+	Missense_Mutation	SNP	A	A	G																															gctggatcatctcatggaggAcagagatggcttgagccttc																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:21206861A>G	uc003zoq.1	-	0	282	c.236T>C	c.(235-237)gTc>gCc	p.V79A	IFNA14_uc003zoo.1_Intron	NM_002171	NP_002162	P01566	IFN10_HUMAN	Homo sapiens interferon, alpha 10 (IFNA10), mRNA.	79					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding	p.V79A(4)		endometrium(1)|large_intestine(3)|liver(1)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16				Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.17)		CTCATGGAGGACAGAGATGGC	0.488													G	21206861	A	G	21206861	3	3	131	1	0	0	0	0	1	0	0	0	7590	275	10	3	337	3	IFNA10	9	21206861	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	2	21206861	120006570	33	8789	13	2									
ZNF618	114991	broad.mit.edu	37	chr9	116750724	116750724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaagacagagctgccCgatgactacatccaggaggt	13	6	13	9	1	0	4	0	2	0	2	1	6	1	5	2	3	3	1	2	3	3	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:116750724C>T	uc004bid.3	+	2	300	c.201C>T	c.(199-201)ccC>ccT	p.P67P	ZNF618_uc004bib.1_Silent_p.P67P|ZNF618_uc004bic.3_Silent_p.P67P|ZNF618_uc011lxi.2_Silent_p.P67P|ZNF618_uc011lxj.2_Silent_p.P67P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	67					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAGAGCTGCCCGATGACTACA	0.632													T	116750724	C	T	116750724	2	4	131	1	0	0	0	0	0	0	0	1	18143	639	23	1		1	ZNF618	9	116750724	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	95543863	116750724	24462707	34	8790											
SNAPC4	6621	broad.mit.edu	37	chr9	139282191	139282192	+	Splice_Site	INS	-	-	A																															tcctagggtcccgcacacttINSacagcatcttcctccggggc																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:139282191_139282192insA	uc004chh.3	-	11	1239	c.1230_splice	c.e11+1	p.A410_splice		NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN	Homo sapiens small nuclear RNA activating complex, polypeptide 4, 190kDa (SNAPC4), mRNA.	410	HTH myb-type 2.				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCCGCACACTTACAGCATCTTC	0.579													A	139282192	-	A	139282191	8	5	131	1	0	1	1	0	0	0	1	0	14931	1769	61	0		0	SNAPC4	9	139282191	Splice_Site	INS	-	TCGA-14-0790-01B-01D-1494-08	22531467	139282191	1931240	35	8791											
NOXA1	10811	broad.mit.edu	37	chr9	140325755	140325755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgcagagacagaggtcGgtgctgaccgctgcacgtcg	8	7	15	11	5	0	3	0	1	0	2	3	5	0	3	1	2	3	4	1	2	0	0	rs141558298		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr9:140325755G>A	uc004cmu.3	+	7	901	c.766G>A	c.(766-768)Ggt>Agt	p.G256S	NOXA1_uc004cmv.3_Missense_Mutation_p.G256S|NOXA1_uc010nch.3_Missense_Mutation_p.G200S	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	256					regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		GACAGAGGTCGGTGCTGACCG	0.672													A	140325755	G	A	140325755	3	1	131	1	0	0	0	0	1	0	0	0	10636	1116	39	1	796	1	NOXA1	9	140325755	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	1043564	140325755	887676	36	8792											
RTKN2	219790	broad.mit.edu	37	chr10	63957757	63957757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggcttggcttcaaaattGgttttagtgtctgtgtgctc	6	17	11	7	0	2	0	1	0	1	0	3	0	2	0	0	3	1	4	0	3	3	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:63957757G>T	uc001jlw.3	-	11	1837	c.1740C>A	c.(1738-1740)acC>acA	p.T580T	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Silent_p.T234T	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	580					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					CTTCAAAATTGGTTTTAGTGT	0.448													T	63957757	G	T	63957757	2	4	131	1	0	0	0	0	0	0	0	1	13814	1335	47	4		4	RTKN2	10	63957757	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08		63957757	71576990	37	8793											
CHUK	1147	broad.mit.edu	37	chr10	101981868	101981868	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattttaatactgatacgtaCctatatcacttagtaaagaa	16	15	4	6	1	1	2	1	1	0	1	1	2	1	2	1	0	3	2	1	0	11	10			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr10:101981868C>T	uc001kqp.3	-	4	440	c.385_splice	c.e4+1	p.G129_splice		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	129	Protein kinase.				I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CTGATACGTACCTATATCACT	0.313													T	101981868	C	T	101981868	5	4	131	1	0	0	0	0	0	0	1	0	3446	521	18	2	1923	2	CHUK	10	101981868	Splice_Site	SNP	C	TCGA-14-0790-01B-01D-1494-08	38024111	101981868	33552879	38	8794											
LGR4	55366	broad.mit.edu	37	chr11	27390538	27390538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagacacagaaatcaagcCtataaacaatttggacgaag	18	8	8	7	1	1	2	1	0	0	2	1	4	1	3	1	1	2	1	1	1	8	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:27390538C>T	uc001mrj.4	-	17	2217	c.1732G>A	c.(1732-1734)Ggc>Agc	p.G578S	LGR4_uc001mrk.4_Missense_Mutation_p.G554S	NM_018490	NP_060960	Q9BXB1	LGR4_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 4 (LGR4), mRNA.	578						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GAAATCAAGCCTATAAACAAT	0.378													T	27390538	C	T	27390538	3	4	131	1	0	0	0	0	1	0	0	0	8816	681	24	2	1127	2	LGR4	11	27390538	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		27390538	107615978	39	8795											
HARBI1	283254	broad.mit.edu	37	chr11	46637480	46637480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtgacattggcaacaCaacgactcatagacgcctga	13	8	8	12	2	2	3	2	2	0	1	2	4	2	3	1	1	2	1	1	1	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr11:46637480C>T	uc001ncy.3	-	1	556	c.308G>A	c.(307-309)tGt>tAt	p.C103Y	ATG13_uc009yld.3_5'Flank|ATG13_uc001nda.3_5'Flank|ATG13_uc001ndb.3_5'Flank|ATG13_uc001ncz.3_5'Flank|ATG13_uc001ndc.3_5'Flank|ATG13_uc010rgv.2_5'Flank	NM_173811	NP_776172	Q96MB7	HARB1_HUMAN	Homo sapiens harbinger transposase derived 1 (HARBI1), mRNA.	103						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATTGGCAACACAACGACTCAT	0.488													T	46637480	C	T	46637480	3	4	131	1	0	0	0	0	1	0	0	0	7013	478	17	2	749	2	HARBI1	11	46637480	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	19246942	46637480	88369036	40	8796											
VWF	7450	broad.mit.edu	37	chr12	6091103	6091103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccgaagggtgggcaaaCggtgcggggggcaggagggt	7	6	21	7	3	1	0	0	0	1	0	2	2	2	1	1	8	2	2	1	8	2	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:6091103C>T	uc001qnn.1	-	41	7386	c.7136G>A	c.(7135-7137)cGt>cAt	p.R2379H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2379					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTGGGCAAACGGTGCGGGGG	0.612													T	6091103	C	T	6091103	3	4	131	1	0	0	0	0	1	0	0	0	17348	536	19	1	1349	1	VWF	12	6091103	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		6091103	127760792	41	8797											
KRT3	3850	broad.mit.edu	37	chr12	53185580	53185580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccccatgcctgccagcCgtggtctgcagctcccccaa	6	8	8	19	1	2	0	1	0	1	0	4	0	4	0	7	1	5	2	7	1	1	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:53185580C>T	uc001say.3	-	5	1275	c.1209G>A	c.(1207-1209)acG>acA	p.T403T		NM_057088	NP_476429	P12035	K2C3_HUMAN	Homo sapiens keratin 3 (KRT3), mRNA.	403	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GCCTGCCAGCCGTGGTCTGCA	0.527													T	53185580	C	T	53185580	2	4	131	1	0	0	0	0	0	0	0	1	8524	639	23	1		1	KRT3	12	53185580	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	47094477	53185580	80666315	42	8798											
OR6C4	341418	broad.mit.edu	37	chr12	55945614	55945614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatggtcatcctcttggccGttgtgactctcatggttact	5	16	10	10	1	3	2	2	2	2	0	5	2	4	2	2	3	1	2	2	3	1	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:55945614G>A	uc010spp.2	+	0	604	c.604G>A	c.(604-606)Gtt>Att	p.V202I		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						CCTCTTGGCCGTTGTGACTCT	0.483													A	55945614	G	A	55945614	3	1	131	1	0	0	0	0	1	0	0	0	11269	1145	40	1	606	1	OR6C4	12	55945614	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	2760034	55945614	77906281	43	8799											
GLIPR1	11010	broad.mit.edu	37	chr12	75874782	75874782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagactgcgttcgaatccAtaacaagttccgatcagagg	14	8	9	10	3	1	2	1	0	0	2	4	4	3	2	2	1	2	2	2	1	4	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:75874782A>G	uc001sxs.3	+	0	270	c.122A>G	c.(121-123)cAt>cGt	p.H41R	GLIPR1_uc009zsb.1_Missense_Mutation_p.H41R	NM_006851	NP_006842	P48060	GLIP1_HUMAN	Homo sapiens GLI pathogenesis-related 1 (GLIPR1), mRNA.	41					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GTTCGAATCCATAACAAGTTC	0.378													G	75874782	A	G	75874782	3	3	131	1	0	0	0	0	1	0	0	0	6497	217	8	3	124	3	GLIPR1	12	75874782	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	19929168	75874782	57977113	44	8800											
MGAT4C	25834	broad.mit.edu	37	chr12	86373908	86373908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatctacattttgcttggaaCgaaatttgactctatcttct	11	17	5	8	1	4	1	0	1	4	0	4	3	4	2	0	1	3	1	0	1	5	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:86373908C>T	uc010sum.2	-	5	827	c.668G>A	c.(667-669)cGt>cAt	p.R223H	MGAT4C_uc001tal.4_Missense_Mutation_p.R199H|MGAT4C_uc001taj.4_Missense_Mutation_p.R199H|MGAT4C_uc001tak.4_Missense_Mutation_p.R199H|MGAT4C_uc001tai.4_Missense_Mutation_p.R199H|MGAT4C_uc001tah.4_Missense_Mutation_p.R199H	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	199					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TTGCTTGGAACGAAATTTGAC	0.338													T	86373908	C	T	86373908	3	4	131	1	0	0	0	0	1	0	0	0	9622	536	19	1	844	1	MGAT4C	12	86373908	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	10499126	86373908	47477987	45	8801											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100453163	100453163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactaaaaaaatcacaatctTtaaagtcttgaaacaaagct	20	11	3	7	0	3	1	1	1	2	0	3	1	3	1	0	0	3	1	0	0	10	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:100453163T>C	uc001tgq.3	-	13	2121	c.1892A>G	c.(1891-1893)aAa>aGa	p.K631R	UHRF1BP1L_uc001tgp.3_Missense_Mutation_p.K281R	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	631										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ATCACAATCTTTAAAGTCTTG	0.353													C	100453163	T	C	100453163	3	2	131	1	0	0	0	0	1	0	0	0	17071	1841	64	3	2534	3	UHRF1BP1L	12	100453163	Missense_Mutation	SNP	T	TCGA-14-0790-01B-01D-1494-08	14079255	100453163	33398732	46	8802											
SBNO1	55206	broad.mit.edu	37	chr12	123794339	123794339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcaaaatactgaaataaCgcattctgctgatgcacctc	13	10	6	12	2	1	2	0	2	1	0	3	2	2	2	2	0	4	4	2	0	5	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr12:123794339C>T	uc010tap.2	-	24	3360	c.3360G>A	c.(3358-3360)gcG>gcA	p.A1120A	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1119A|SBNO1_uc010taq.2_Silent_p.A71A|SBNO1_uc001ues.1_Silent_p.A71A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1120							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ACTGAAATAACGCATTCTGCT	0.328													T	123794339	C	T	123794339	2	4	131	1	0	0	0	0	0	0	0	1	13954	523	19	1		1	SBNO1	12	123794339	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	23341176	123794339	10057556	47	8803											
CDADC1	81602	broad.mit.edu	37	chr13	49865831	49865831	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgctagatggtgtgttgAgacctgtcccacagaaggaa	12	9	12	8	0	0	3	0	1	0	3	1	5	1	4	2	2	1	2	2	2	4	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr13:49865831A>C	uc001vcu.3	+	9	1610	c.1483A>C	c.(1483-1485)Aga>Cga	p.R495R	CDADC1_uc021rjm.1_Intron|CDADC1_uc010tgk.2_Silent_p.R297R|CDADC1_uc001vcv.3_Non-coding_Transcript	NM_030911	NP_112173	Q9BWV3	CDAC1_HUMAN	Homo sapiens cytidine and dCMP deaminase domain containing 1 (CDADC1), transcript variant 1, mRNA.	495							hydrolase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	16		Lung NSC(96;0.000705)|Breast(56;0.0011)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;1.06e-08)|COAD - Colon adenocarcinoma(199;0.216)		TGGTGTGTTGAGACCTGTCCC	0.488													C	49865831	A	C	49865831	2	2	131	1	0	0	0	0	0	0	0	1	3083	296	11	5		5	CDADC1	13	49865831	Silent	SNP	A	TCGA-14-0790-01B-01D-1494-08		49865831	65304047	48	8804											
OR4N2	390429	broad.mit.edu	37	chr14	20295720	20295720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatattctacttcatcaTcctccctggaaattttctca	10	18	2	11	0	4	0	3	0	2	0	7	1	6	1	2	1	1	0	2	1	4	8			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:20295720T>C	uc010tkv.2	+	0	113	c.113T>C	c.(112-114)aTc>aCc	p.I38T		NM_001004723	NP_001004723	Q8NGD1	OR4N2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 2 (OR4N2), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACTTCATCATCCTCCCTGGA	0.438													C	20295720	T	C	20295720	3	2	131	1	0	0	0	0	1	0	0	0	11153	1435	50	3	115	3	OR4N2	14	20295720	Missense_Mutation	SNP	T	TCGA-14-0790-01B-01D-1494-08		20295720	87053820	49	8805											
RNASE11	122651	broad.mit.edu	37	chr14	21052495	21052495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaatatctcaatggtctGtttttcttggccactttttg	7	20	6	8	0	3	0	1	0	3	0	4	0	3	0	1	2	0	1	1	2	3	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:21052495G>T	uc010ahw.3	-	2	475	c.139C>A	c.(139-141)Cag>Aag	p.Q47K	RNASE11_uc010ahv.3_Missense_Mutation_p.Q47K|RNASE11_uc010ahx.3_Missense_Mutation_p.Q47K|RNASE11_uc001vxs.3_Missense_Mutation_p.Q47K|RNASE11_uc021rnu.1_Missense_Mutation_p.Q47K	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	47						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		TCAATGGTCTGTTTTTCTTGG	0.378													T	21052495	G	T	21052495	3	4	131	1	0	0	0	0	1	0	0	0	13492	1386	48	4	464	4	RNASE11	14	21052495	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	756775	21052495	86297045	50	8806											
ARID4A	5926	broad.mit.edu	37	chr14	58831848	58831848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacttactcttagtcaagAtgagtctcgaagcgtaaaaa	15	10	7	9	2	3	2	1	1	2	1	4	3	3	2	1	0	2	1	1	0	7	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:58831848A>G	uc001xdp.3	+	19	3295	c.3041A>G	c.(3040-3042)gAt>gGt	p.D1014G	ARID4A_uc001xdo.3_Missense_Mutation_p.D1014G|ARID4A_uc001xdq.3_Missense_Mutation_p.D1014G|ARID4A_uc010apg.1_Missense_Mutation_p.D692G	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	1014					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.Q1013K(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CTTAGTCAAGATGAGTCTCGA	0.413													G	58831848	A	G	58831848	3	3	131	1	0	0	0	0	1	0	0	0	922	333	12	3	3115	3	ARID4A	14	58831848	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	37779353	58831848	48517692	51	8807											
AHNAK2	113146	broad.mit.edu	37	chr14	105408457	105408457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggtccccctccagcCgcgtactgtccagcttggct	5	8	12	16	2	0	0	0	0	0	0	3	1	3	1	5	3	3	3	5	3	1	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr14:105408457C>T	uc010axc.1	-	6	13451	c.13331G>A	c.(13330-13332)cGg>cAg	p.R4444Q	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.R4344Q	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4444						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCCTCCAGCCGCGTACTGTC	0.587													T	105408457	C	T	105408457	3	4	131	1	0	0	0	0	1	0	0	0	415	652	23	1	4060	1	AHNAK2	14	105408457	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	46576609	105408457	1941083	52	8808											
PLCB2	5330	broad.mit.edu	37	chr15	40583002	40583002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttcagctctgccgcctGtttctctctggccagctcca	3	12	9	17	1	4	0	1	0	3	0	6	0	5	0	5	2	3	3	5	2	0	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:40583002G>C	uc001zld.3	-	27	3374	c.3073C>G	c.(3073-3075)Cag>Gag	p.Q1025E	PLCB2_uc001zlc.3_Missense_Mutation_p.Q9E|PLCB2_uc010bbo.3_Missense_Mutation_p.Q1021E|PLCB2_uc010ucm.2_Missense_Mutation_p.Q1010E	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	1025					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.E1024D(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TCTGCCGCCTGTTTCTCTCTG	0.587													C	40583002	G	C	40583002	3	2	131	1	0	0	0	0	1	0	0	0	12105	1386	48	4	504	4	PLCB2	15	40583002	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		40583002	61948390	53	8809											
VPS39	23339	broad.mit.edu	37	chr15	42457929	42457929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttaccagataaggaataGccagacccttaaaattctct	15	10	5	11	0	1	2	0	0	1	2	2	3	1	3	4	1	2	0	4	1	6	5			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:42457929G>A	uc001zpd.3	-	17	1950	c.1799C>T	c.(1798-1800)gCt>gTt	p.A600V	VPS39_uc001zpc.3_Missense_Mutation_p.A589V|VPS39_uc001zpb.3_5'UTR	NM_015289	NP_056104	Q96JC1	VPS39_HUMAN	Homo sapiens vacuolar protein sorting 39 homolog (S. cerevisiae) (VPS39), mRNA.	600					protein transport	HOPS complex|late endosome membrane|lysosomal membrane	small GTPase regulator activity			breast(2)|kidney(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(109;6.78e-16)|all_epithelial(112;1.81e-14)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;3.05e-06)		ATAAGGAATAGCCAGACCCTT	0.443													A	42457929	G	A	42457929	3	1	131	1	0	0	0	0	1	0	0	0	17311	971	34	2	897	2	VPS39	15	42457929	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	1874927	42457929	60073463	54	8810											
SLC27A2	11001	broad.mit.edu	37	chr15	50518260	50518260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgaaaatggatattgcGtcagagttcccaaaggtaca	14	10	11	6	1	1	3	1	2	0	1	2	4	2	4	1	2	2	2	1	2	5	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:50518260G>A	uc001zxw.3	+	5	1475	c.1243G>A	c.(1243-1245)Gtc>Atc	p.V415I	SLC27A2_uc010bes.3_Missense_Mutation_p.V362I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V180I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	415					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity	p.V415L(2)		NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGGATATTGCGTCAGAGTTCC	0.353													A	50518260	G	A	50518260	3	1	131	1	0	0	0	0	1	0	0	0	14620	1145	40	1	1265	1	SLC27A2	15	50518260	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	8060331	50518260	52013132	55	8811											
ACAN	176	broad.mit.edu	37	chr15	89395102	89395102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtggaggagtggatcGtgacccaagtggttcctggt	6	11	17	7	1	0	1	0	1	0	0	2	4	1	4	2	6	0	1	2	6	1	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr15:89395102G>A	uc010upo.1	+	10	2478	c.2104G>A	c.(2104-2106)Gtg>Atg	p.V702M	ACAN_uc010upp.1_Missense_Mutation_p.V702M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	702					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGAGTGGATCGTGACCCAAGT	0.567													A	89395102	G	A	89395102	3	1	131	1	0	0	0	0	1	0	0	0	117	1145	40	1	2142	1	ACAN	15	89395102	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	38876842	89395102	13136290	56	8812											
GRIN2A	2903	broad.mit.edu	37	chr16	9858195	9858195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggttccctgtggcacGtggcccgatttgacgtttct	4	14	12	11	3	2	1	1	1	1	0	3	2	3	1	2	3	0	3	2	3	0	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:9858195G>A	uc010uym.2	-	13	3516	c.3206C>T	c.(3205-3207)aCg>aTg	p.T1069M	GRIN2A_uc002czo.4_Missense_Mutation_p.T1069M|GRIN2A_uc010uyn.2_Missense_Mutation_p.T912M|GRIN2A_uc002czr.4_Missense_Mutation_p.T1069M	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1069					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T1069M(2)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCTGTGGCACGTGGCCCGATT	0.502													A	9858195	G	A	9858195	3	1	131	1	0	0	0	0	1	0	0	0	6834	1145	40	1	1192	1	GRIN2A	16	9858195	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		9858195	80496558	57	8813											
IL4R	3566	broad.mit.edu	37	chr16	27373745	27373745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccagagagcatcagcGtggtgcgatgtgtggagttg	7	10	17	7	2	2	1	1	0	1	1	2	4	2	2	1	3	3	2	1	3	0	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:27373745G>A	uc002don.3	+	10	1314	c.1072G>A	c.(1072-1074)Gtg>Atg	p.V358M	IL4R_uc002dop.4_Missense_Mutation_p.V343M|IL4R_uc010bxy.3_Missense_Mutation_p.V358M|IL4R_uc002doo.3_Missense_Mutation_p.V198M	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	358					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGCATCAGCGTGGTGCGATG	0.562													A	27373745	G	A	27373745	3	1	131	1	0	0	0	0	1	0	0	0	7756	1145	40	1	1124	1	IL4R	16	27373745	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	17515550	27373745	62981008	58	8814											
CDH8	1006	broad.mit.edu	37	chr16	61687974	61687974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attaatggttcatttttatgCcgccgtagagttacaaacag	12	14	8	7	2	1	1	1	0	0	1	1	1	1	1	2	1	3	3	2	1	5	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:61687974C>T	uc002eog.2	-	11	2893	c.1938G>A	c.(1936-1938)cgG>cgA	p.R646R		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	646					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R646Q(1)|p.R646L(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CATTTTTATGCCGCCGTAGAG	0.388													T	61687974	C	T	61687974	2	4	131	1	0	0	0	0	0	0	0	1	3146	726	26	2		2	CDH8	16	61687974	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	34314229	61687974	28666779	59	8815											
C16orf7	9605	broad.mit.edu	37	chr16	89782935	89782935	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgggtggcagaaaaggagaGagctttcctccttcatcgga	10	9	13	9	2	1	2	1	0	0	2	5	5	3	4	2	4	1	2	2	4	2	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr16:89782935G>C	uc002fom.1	-	3	491	c.366C>G	c.(364-366)ctC>ctG	p.L122L	C16orf7_uc002fol.1_Silent_p.L52L|LOC100128881_uc002fon.1_Non-coding_Transcript|LOC100128881_uc002foo.1_5'Flank	NM_004913	NP_004904	Q9Y2B5	CP007_HUMAN	Homo sapiens chromosome 16 open reading frame 7 (C16orf7), mRNA.	122					ATP synthesis coupled proton transport		GTPase activator activity|transporter activity			breast(1)|lung(3)|ovary(1)	5		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAAAAGGAGAGAGCTTTCCTC	0.567													C	89782935	G	C	89782935	2	2	131	1	0	0	0	0	0	0	0	1	1842	929	33	4		4	C16orf7	16	89782935	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	28094961	89782935	571818	60	8816											
PRPF8	10594	broad.mit.edu	37	chr17	1577046	1577046	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacctagactcacaagttaAcatcatgtttcatgaggcgc	13	10	7	11	1	3	2	3	1	0	1	3	2	3	2	1	1	2	2	1	1	4	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:1577046A>G	uc002fte.3	-	21	3554	c.3440T>C	c.(3439-3441)gTt>gCt	p.V1147A		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1147						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCACAAGTTAACATCATGTTT	0.537													G	1577046	A	G	1577046	3	3	131	1	0	0	0	0	1	0	0	0	12661	43	2	3	3655	3	PRPF8	17	1577046	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08		1577046	79618164	61	8817											
SPDYE4	388333	broad.mit.edu	37	chr17	8658859	8658859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggaagaaatgaatgCgttggtattgccacgagaag	14	7	14	6	2	0	3	0	1	0	2	0	6	0	4	2	2	3	2	2	2	5	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:8658859C>T	uc010cnz.1	-	3	641	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_001128076	NP_001121548	A6NLX3	SPDE4_HUMAN	Homo sapiens speedy homolog E4 (Xenopus laevis) (SPDYE4), mRNA.	155										breast(1)|endometrium(2)|kidney(1)	4						GAAATGAATGCGTTGGTATTG	0.493													T	8658859	C	T	8658859	3	4	131	1	0	0	0	0	1	0	0	0	15127	768	27	1	261	1	SPDYE4	17	8658859	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	7081813	8658859	72536351	62	8818											
MYH4	4622	broad.mit.edu	37	chr17	10369590	10369590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgttgaaagggtgctcacGtagatcatccaggctgcgta	10	9	13	9	3	2	2	2	1	0	1	3	2	3	2	1	2	3	5	1	2	3	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:10369590G>A	uc002gmn.3	-	4	459	c.348_splice	c.e4+1	p.Y116_splice	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	116	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGTGCTCACGTAGATCATCC	0.433													A	10369590	G	A	10369590	2	1	131	1	0	0	0	0	0	0	0	1	10113	1159	40	1		1	MYH4	17	10369590	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	1710731	10369590	70825620	63	8819											
C17orf53	78995	broad.mit.edu	37	chr17	42225478	42225478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggagcagctcccctaaggCctgtctctacttccagcagc	8	9	9	15	0	1	0	0	0	1	0	4	1	3	1	4	2	5	3	4	2	3	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr17:42225478C>T	uc002ifi.2	+	2	544	c.307C>T	c.(307-309)Cct>Tct	p.P103S	C17orf53_uc010czq.2_Missense_Mutation_p.P103S|C17orf53_uc002ifj.2_Missense_Mutation_p.P103S|C17orf53_uc002ifk.1_Non-coding_Transcript	NM_024032	NP_076937	Q8N3J3	CQ053_HUMAN	Homo sapiens chromosome 17 open reading frame 53 (C17orf53), transcript variant 1, mRNA.	103										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCCCCTAAGGCCTGTCTCTAC	0.577													T	42225478	C	T	42225478	3	4	131	1	0	0	0	0	1	0	0	0	1878	739	26	2	317	2	C17orf53	17	42225478	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	31855888	42225478	38969732	64	8820											
CTDP1	9150	broad.mit.edu	37	chr18	77513692	77513692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaagaggacgccgccagcGagtccagcagggagtccagc	11	3	15	12	3	0	2	0	1	0	1	2	5	2	4	4	2	3	1	4	2	1	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr18:77513692G>A	uc002lnh.2	+	12	2935	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	CTDP1_uc002lni.2_3'UTR|CTDP1_uc010drd.2_3'UTR|CTDP1_uc021ult.1_Missense_Mutation_p.E811K	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	930					positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CGCCGCCAGCGAGTCCAGCAG	0.617													A	77513692	G	A	77513692	3	1	131	1	0	0	0	0	1	0	0	0	4035	1059	37	1	2838	1	CTDP1	18	77513692	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		77513692	563556	65	8821											
MATK	4145	broad.mit.edu	37	chr19	3783948	3783948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcgccggggtggcgcgcgGactcccgcaccaggaacagc	7	3	16	15	6	0	0	0	0	0	0	2	2	1	2	3	5	2	1	3	5	1	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:3783948G>T	uc002lyt.3	-	5	846	c.446C>A	c.(445-447)tCc>tAc	p.S149Y	MATK_uc002lyv.3_Missense_Mutation_p.S150Y|MATK_uc002lyu.3_Missense_Mutation_p.S108Y|MATK_uc010dtq.3_Missense_Mutation_p.S149Y	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	149	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCGCGGACTCCCGCAC	0.682													T	3783948	G	T	3783948	3	4	131	1	0	0	0	0	1	0	0	0	9407	1174	41	4	1113	4	MATK	19	3783948	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08		3783948	55345035	66	8822											
NCAN	1463	broad.mit.edu	37	chr19	19351446	19351446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacgtggatcggcctgaaCgacaggatcgtggagagaga	13	5	15	8	4	0	3	0	1	0	2	2	8	0	5	1	4	2	0	1	4	2	0			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:19351446C>T	uc002nlz.3	+	11	3543	c.3444C>T	c.(3442-3444)aaC>aaT	p.N1148N	NCAN_uc002nma.3_5'UTR	NM_004386	NP_004377	O14594	NCAN_HUMAN	Homo sapiens neurocan (NCAN), mRNA.	1148	C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			TCGGCCTGAACGACAGGATCG	0.637													T	19351446	C	T	19351446	2	4	131	1	0	0	0	0	0	0	0	1	10280	535	19	1		1	NCAN	19	19351446	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	15567498	19351446	39777537	67	8823											
NR1H2	7376	broad.mit.edu	37	chr19	50882422	50882423	+	Frame_Shift_Ins	INS	-	-	G																															gaccagatcgccctcctgaaINSggcatccactatcgaggtaa																										TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:50882422_50882423insG	uc010enw.3	+	6	1380_1381	c.911_912insG	c.(910-912)aagfs	p.K304fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Ins_p.K207fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	304	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GCCCTCCTGAAGGCATCCACTA	0.574													G	50882423	-	G	50882422	7	5	131	1	0	1	1	0	0	0	0	0	10693	72	3	0	929	0	NR1H2	19	50882422	Frame_Shift_Ins	INS	-	TCGA-14-0790-01B-01D-1494-08	31530976	50882422	8246561	68	8824											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284915	55284915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaggggatgtttaaCgacactttgcgcctcattgg	10	10	12	9	2	1	1	1	0	0	1	1	4	1	2	1	3	2	1	1	3	1	4	rs144426670	byFrequency	TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:55284915C>T	uc010erz.1	+	2	239	c.201C>T	c.(199-201)aaC>aaT	p.N67N	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR2DL1_uc010erw.1_Intron|KIR2DL1_uc002qgz.1_Intron|KIR2DL1_uc002qha.1_Intron|GQ422373_uc021vbl.1_5'Flank|KIR2DL1_uc002qhb.1_Silent_p.N67N	NM_014218	NP_055033	P43626	KI2L1_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1 (KIR2DL1), mRNA.	67	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517													T	55284915	C	T	55284915	2	4	131	1	0	0	0	0	0	0	0	1	8374	535	19	1		1	KIR2DL1	19	55284915	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	4402493	55284915	3844068	69	8825											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565272	58565272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagggcccccgggagtcCgtcccacccagggatggagc	8	3	15	15	2	0	0	0	0	0	0	2	3	2	3	5	4	2	1	5	4	1	0	rs144381428		TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr19:58565272C>T	uc002qrc.1	+	5	1327	c.1080C>T	c.(1078-1080)tcC>tcT	p.S360S		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	360					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCCGGGAGTCCGTCCCACCCA	0.662													T	58565272	C	T	58565272	2	4	131	1	0	0	0	0	0	0	0	1	18325	639	23	1		1	ZSCAN1	19	58565272	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	3280357	58565272	563711	70	8826											
CRYBB2	1415	broad.mit.edu	37	chr22	25627599	25627599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccagtaccccggctacCgtgggctgcagtacctgctg	6	8	12	15	2	0	0	0	0	0	0	0	0	0	0	5	2	6	7	5	2	4	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chr22:25627599C>T	uc003abp.1	+	5	526	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_000496	NP_000487	P43320	CRBB2_HUMAN	Homo sapiens crystallin, beta B2 (CRYBB2), mRNA.	160	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CCCCGGCTACCGTGGGCTGCA	0.637													T	25627599	C	T	25627599	3	4	131	1	0	0	0	0	1	0	0	0	3942	652	23	1	496	1	CRYBB2	22	25627599	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08		25627599	25676967	71	8827											
ARHGAP6	395	broad.mit.edu	37	chrX	11160414	11160414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccaagttccccagatatcGaaaggctcctctgacagatc	11	9	8	13	1	1	3	0	1	1	2	5	4	3	3	4	1	1	2	4	1	3	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:11160414G>A	uc004cup.1	-	11	3069	c.2196C>T	c.(2194-2196)ttC>ttT	p.F732F	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cum.1_Silent_p.F529F|ARHGAP6_uc004cun.1_Silent_p.F552F	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	732					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCCAGATATCGAAAGGCTCCT	0.318													A	11160414	G	A	11160414	2	1	131	1	0	0	0	0	0	0	0	1	890	1049	37	1		1	ARHGAP6	23	11160414	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08		11160414	144110146	72	8828											
SCML2	10389	broad.mit.edu	37	chrX	18348708	18348708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattactttaaaacctaccCctttgtacagaagatgtact	15	13	4	9	0	0	2	0	0	0	2	0	2	0	2	3	0	5	2	3	0	8	7			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:18348708C>T	uc004cyl.2	-	3	248	c.91_splice	c.e3+1	p.D31_splice	SCML2_uc004cyk.3_Splice_Site|SCML2_uc010nfd.1_Splice_Site_p.D31_splice|SCML2_uc011miz.1_Intron	NM_006089	NP_006080	Q9UQR0	SCML2_HUMAN	Homo sapiens sex comb on midleg-like 2 (Drosophila) (SCML2), transcript variant 1, mRNA.	31					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					AAAACCTACCCCTTTGTACAG	0.308													T	18348708	C	T	18348708	2	4	131	1	0	0	0	0	0	0	0	1	14003	637	22	2		2	SCML2	23	18348708	Silent	SNP	C	TCGA-14-0790-01B-01D-1494-08	7188294	18348708	136921852	73	8829											
DCAF8L2	347442	broad.mit.edu	37	chrX	27765650	27765650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaggcctgtggggcaagagCctttgtgcagcgtttccgcc	5	10	15	11	2	0	2	0	1	0	1	1	2	1	2	4	3	3	3	4	3	1	2			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:27765650C>A	uc011mjy.2	+	0	725	c.638C>A	c.(637-639)gCc>gAc	p.A213D		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						GGGGCAAGAGCCTTTGTGCAG	0.592													A	27765650	C	A	27765650	3	1	131	1	0	0	0	0	1	0	0	0	4312	739	26	4	640	4	DCAF8L2	23	27765650	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	9416942	27765650	127504910	74	8830											
FAM47C	442444	broad.mit.edu	37	chrX	37028542	37028542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagcctccagagactcgcGtatctcatctccgcccagag	8	7	10	16	4	2	2	1	0	2	2	6	4	3	3	4	1	1	1	4	1	1	1			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:37028542G>A	uc004ddl.2	+	0	2111	c.2059G>A	c.(2059-2061)Gta>Ata	p.V687I		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	687								p.R686H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAGACTCGCGTATCTCATCT	0.657													A	37028542	G	A	37028542	3	1	131	1	0	0	0	0	1	0	0	0	5622	1145	40	1	2061	1	FAM47C	23	37028542	Missense_Mutation	SNP	G	TCGA-14-0790-01B-01D-1494-08	9262892	37028542	118242018	75	8831											
BCORL1	63035	broad.mit.edu	37	chrX	129149265	129149265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccccgtaccaccaggcGtctctgctttccattggcat	5	12	9	15	2	1	0	0	0	1	0	4	0	3	0	5	3	2	3	5	3	1	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:129149265G>A	uc022cdu.1	+	2	2561	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	BCORL1_uc010nrd.1_Silent_p.A741A	NM_021946	NP_068765	Q5H9F3	BCORL_HUMAN	Homo sapiens BCL6 corepressor-like 1 (BCORL1), mRNA.	839					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ACCACCAGGCGTCTCTGCTTT	0.607													A	129149265	G	A	129149265	2	1	131	1	0	0	0	0	0	0	0	1	1392	1132	40	1		1	BCORL1	23	129149265	Silent	SNP	G	TCGA-14-0790-01B-01D-1494-08	92120723	129149265	26121295	76	8832											
GPR112	139378	broad.mit.edu	37	chrX	135485475	135485475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaactctgagcccaacaaCtccgttgtaagtaccagcat	12	9	8	12	1	1	1	0	1	1	0	2	2	2	2	3	1	6	4	3	1	5	3			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135485475C>A	uc004ezu.1	+	21	8939	c.8648C>A	c.(8647-8649)aCt>aAt	p.T2883N	GPR112_uc010nsb.1_Missense_Mutation_p.T2678N	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2883					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGCCCAACAACTCCGTTGTAA	0.498													A	135485475	C	A	135485475	3	1	131	1	0	0	0	0	1	0	0	0	6683	565	20	4	8722	4	GPR112	23	135485475	Missense_Mutation	SNP	C	TCGA-14-0790-01B-01D-1494-08	6336210	135485475	19785085	77	8833											
RBMX	27316	broad.mit.edu	37	chrX	135961572	135961572	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagagctttcctgggcgAtctgcttcaaccatgttttt	8	15	9	9	1	2	2	1	1	1	1	3	3	3	2	2	1	3	3	2	1	2	4			TCGA-14-0790-01B-01D-1494-08	TCGA-14-0790-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d63d49a0-9413-4583-a7a5-cb2c202cc085	c5b89205-c40f-42e9-bde7-3a95e32bb631	g.chrX:135961572A>T	uc004fae.2	-	1	225	c.15T>A	c.(13-15)gaT>gaA	p.D5E	RBMX_uc011mwf.1_Missense_Mutation_p.D5E|RBMX_uc004fad.1_Missense_Mutation_p.D5E|RBMX_uc011mwg.2_5'UTR|RBMX_uc004faf.2_5'UTR|SNORD61_uc004fah.1_5'Flank	NM_002139	NP_002130	P38159	HNRPG_HUMAN	Homo sapiens RNA binding motif protein, X-linked (RBMX), transcript variant 1, mRNA.	5						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding	p.D5Y(3)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTCCTGGGCGATCTGCTTCAA	0.403													T	135961572	A	T	135961572	3	4	131	1	0	0	0	0	1	0	0	0	13239	330	12	5	1247	5	RBMX	23	135961572	Missense_Mutation	SNP	A	TCGA-14-0790-01B-01D-1494-08	476097	135961572	19308988	78	8834											
MASP2	10747	broad.mit.edu	37	chr1	11107017	11107017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaagtagaggcgcaggcgGtagccggggggtgcagtcag	8	5	21	7	3	1	2	1	1	0	1	1	2	1	2	1	6	2	4	1	6	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:11107017G>A	uc001aru.3	-	1	197	c.165C>T	c.(163-165)taC>taT	p.Y55Y	MASP2_uc001arv.3_Silent_p.Y55Y|MASP2_uc001arw.3_Silent_p.Y55Y|MASP2_uc001arx.2_Silent_p.Y55Y	NM_006610	NP_006601	O00187	MASP2_HUMAN	Homo sapiens mannan-binding lectin serine peptidase 2 (MASP2), transcript variant 1, mRNA.	55	CUB 1.				complement activation, classical pathway|complement activation, lectin pathway|proteolysis	extracellular region	calcium ion binding|calcium-dependent protein binding|serine-type endopeptidase activity			biliary_tract(1)|endometrium(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(185;0.249)	Lung NSC(185;1.04e-05)|all_lung(284;1.31e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.071)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)		GGCGCAGGCGGTAGCCGGGGG	0.657													A	11107017	G	A	11107017	2	1	132	1	0	0	0	0	0	0	0	1	9398	1256	44	2		2	MASP2	1	11107017	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08		11107017	238143604	1	8835											
ZNF362	149076	broad.mit.edu	37	chr1	33745906	33745906	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctctcctggactccatcaaGacaatccagggccacggcct	9	7	8	17	1	2	1	1	0	1	1	5	2	4	2	6	3	0	0	6	3	2	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:33745906G>C	uc001bxc.1	+	4	701	c.531G>C	c.(529-531)aaG>aaC	p.K177N		NM_152493	NP_689706	Q5T0B9	ZN362_HUMAN	Homo sapiens zinc finger protein 362 (ZNF362), mRNA.	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				ACTCCATCAAGACAATCCAGG	0.667													C	33745906	G	C	33745906	3	2	132	1	0	0	0	0	1	0	0	0	17969	933	33	4	545	4	ZNF362	1	33745906	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	22638889	33745906	215504715	2	8836											
KLF17	128209	broad.mit.edu	37	chr1	44595485	44595485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctccagtgccttaccctgGcctctcgacagtaccttctg	5	11	7	18	1	2	0	0	0	2	0	4	1	3	0	6	1	3	1	6	1	2	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:44595485G>A	uc001clp.3	+	1	600	c.542G>A	c.(541-543)gGc>gAc	p.G181D	KLF17_uc009vxf.1_Missense_Mutation_p.G144D	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	181					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					CCTTACCCTGGCCTCTCGACA	0.597													A	44595485	G	A	44595485	3	1	132	1	0	0	0	0	1	0	0	0	8403	1203	42	2	548	2	KLF17	1	44595485	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	10849579	44595485	204655136	3	8837											
LRRC7	57554	broad.mit.edu	37	chr1	70489054	70489054	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctctctaagtggcagAcaggtaggcctaggtgtctg	7	11	12	11	0	2	1	0	0	2	1	4	1	3	1	2	4	0	2	2	4	3	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:70489054A>T	uc001dep.3	+	14	1707	c.1677A>T	c.(1675-1677)agA>agT	p.R559S	LRRC7_uc009wbg.3_Intron	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	559						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TAAGTGGCAGACAGGTAGGCC	0.507													T	70489054	A	T	70489054	3	4	132	1	0	0	0	0	1	0	0	0	9090	272	10	5	1735	5	LRRC7	1	70489054	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	25893569	70489054	178761567	4	8838											
NEGR1	257194	broad.mit.edu	37	chr1	72400892	72400892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttttattcaatgttgaAattgaaactcgaggatccac	12	14	6	9	1	1	2	1	2	0	0	4	4	3	3	2	1	1	1	2	1	4	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:72400892A>C	uc001dfw.3	-	1	507	c.279T>G	c.(277-279)atT>atG	p.I93M	NEGR1_uc001dfv.3_5'UTR|NEGR1_uc010oqs.2_Missense_Mutation_p.I93M	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	93	Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TCAATGTTGAAATTGAAACTC	0.443													C	72400892	A	C	72400892	3	2	132	1	0	0	0	0	1	0	0	0	10393	10	1	5	809	5	NEGR1	1	72400892	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	1911838	72400892	176849729	5	8839											
MOV10	4343	broad.mit.edu	37	chr1	113232671	113232671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcggacccggatcaccGgaaaccctgtggtgaccaat	11	6	11	13	3	2	1	2	1	0	0	2	4	2	4	4	4	2	0	4	4	3	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:113232671G>A	uc001eck.3	+	4	1057	c.787G>A	c.(787-789)Gga>Aga	p.G263R	MOV10_uc001ecl.2_Missense_Mutation_p.G263R|MOV10_uc001ecn.3_Missense_Mutation_p.G263R|MOV10_uc001ecm.3_Missense_Mutation_p.G203R|MOV10_uc009wgj.1_Missense_Mutation_p.G203R	NM_001130079	NP_066014	Q9HCE1	MOV10_HUMAN	Homo sapiens Mov10, Moloney leukemia virus 10, homolog (mouse) (MOV10), transcript variant 2, mRNA.	263					mRNA cleavage involved in gene silencing by miRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body	ATP binding|helicase activity|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(3)	38	Lung SC(450;0.246)	all_cancers(81;3.31e-11)|all_epithelial(167;5.69e-10)|all_lung(203;3.73e-05)|Breast(1374;0.000525)|Lung NSC(69;0.000954)|Ovarian(761;0.0367)|Lung SC(238;0.114)		OV - Ovarian serous cystadenocarcinoma(397;3.99e-67)|all cancers(265;1e-62)|Epithelial(280;4.78e-61)|Lung(183;0.0234)|Colorectal(144;0.0686)|READ - Rectum adenocarcinoma(129;0.0929)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|BRCA - Breast invasive adenocarcinoma(282;0.24)		CCGGATCACCGGAAACCCTGT	0.602													A	113232671	G	A	113232671	3	1	132	1	0	0	0	0	1	0	0	0	9794	1117	39	1	801	1	MOV10	1	113232671	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	40831779	113232671	136017950	6	8840											
INSRR	3645	broad.mit.edu	37	chr1	156816384	156816384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctcctcagtggttagCgtgatggcccgcacaaacac	8	9	10	14	2	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	2	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:156816384C>T	uc010pht.2	-	7	2036	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	NTRK1_uc001fqf.1_Intron|NTRK1_uc009wsi.1_Intron	NM_014215	NP_055030	P14616	INSRR_HUMAN	Homo sapiens insulin receptor-related receptor (INSRR), mRNA.	579	Fibronectin type-III 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGTGGTTAGCGTGATGGCCC	0.607													T	156816384	C	T	156816384	2	4	132	1	0	0	0	0	0	0	0	1	7832	755	27	1		1	INSRR	1	156816384	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	43583713	156816384	92434237	7	8841											
OR10Z1	128368	broad.mit.edu	37	chr1	158576316	158576316	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagctccttctctttgccTtgttcctctctctgtatcta	3	19	5	14	0	4	0	0	0	4	0	8	0	6	0	3	0	3	4	3	0	2	6			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:158576316T>C	uc010pio.2	+	0	88	c.88T>C	c.(88-90)Ttg>Ctg	p.L30L		NM_001004478	NP_001004478	Q8NGY1	O10Z1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily Z, member 1 (OR10Z1), mRNA.	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(6)|lung(21)|pancreas(1)|prostate(3)|skin(4)	37	all_hematologic(112;0.0378)					TCTCTTTGCCTTGTTCCTCTC	0.502													C	158576316	T	C	158576316	2	2	132	1	0	0	0	0	0	0	0	1	10999	1606	56	3		3	OR10Z1	1	158576316	Silent	SNP	T	TCGA-14-0813-01A-01W-0424-08	1759932	158576316	90674305	8	8842											
ATF6	22926	broad.mit.edu	37	chr1	161816315	161816315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcaccttctaggatttTctgctaaagaggcacaggac	11	9	12	9	0	2	1	0	0	2	1	2	4	2	4	1	5	1	3	1	5	3	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:161816315T>C	uc001gbs.3	+	9	1381	c.1264T>C	c.(1264-1266)Tct>Cct	p.S422P	ATF6_uc001gbq.2_Missense_Mutation_p.S422P	NM_007348	NP_031374	P18850	ATF6A_HUMAN	Homo sapiens activating transcription factor 6 (ATF6), mRNA.	422					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TCTAGGATTTTCTGCTAAAGA	0.403													C	161816315	T	C	161816315	3	2	132	1	0	0	0	0	1	0	0	0	1089	1783	62	3	1302	3	ATF6	1	161816315	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	3239999	161816315	87434306	9	8843											
GORAB	92344	broad.mit.edu	37	chr1	170511696	170511696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatggaagagaaaaataaaCgtaaaaaagctcttttggct	19	10	8	4	1	1	1	0	0	1	1	1	3	1	2	0	2	2	3	0	2	9	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:170511696C>T	uc001gha.2	+	2	586	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	GORAB_uc001ggz.4_Missense_Mutation_p.R187C|GORAB_uc009wvx.2_Missense_Mutation_p.R7C|GORAB_uc001ghb.2_Missense_Mutation_p.R7C|GORAB_uc001ghc.2_Missense_Mutation_p.R7C|GORAB_uc001ghd.2_5'Flank	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	187						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GAAAAATAAACGTAAAAAAGC	0.398													T	170511696	C	T	170511696	3	4	132	1	0	0	0	0	1	0	0	0	6627	536	19	1	569	1	GORAB	1	170511696	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	8695381	170511696	78738925	10	8844											
PAPPA2	60676	broad.mit.edu	37	chr1	176526282	176526282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggagcggctgctgctgcGtccagaagtgctggctgaga	6	7	18	10	3	0	2	0	1	0	2	1	4	1	3	1	3	5	5	1	3	1	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:176526282G>A	uc001gkz.3	+	1	1988	c.824G>A	c.(823-825)cGt>cAt	p.R275H	PAPPA2_uc001gky.1_Missense_Mutation_p.R275H|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	275					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						CTGCTGCTGCGTCCAGAAGTG	0.577													A	176526282	G	A	176526282	3	1	132	1	0	0	0	0	1	0	0	0	11509	1145	40	1	826	1	PAPPA2	1	176526282	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	6014586	176526282	72724339	11	8845											
HMCN1	83872	broad.mit.edu	37	chr1	186062774	186062774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctcctcccatatccGgttactggcagcaggacaag	8	9	9	15	1	1	0	0	0	1	0	5	1	4	1	4	3	2	3	4	3	3	2	rs143555094		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:186062774G>A	uc001grq.1	+	65	10398	c.10169G>A	c.(10168-10170)cGg>cAg	p.R3390Q	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3390	Ig-like C2-type 32.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCCCATATCCGGTTACTGGCA	0.428													A	186062774	G	A	186062774	3	1	132	1	0	0	0	0	1	0	0	0	7275	1116	39	1	10431	1	HMCN1	1	186062774	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9536492	186062774	63187847	12	8846											
AVPR1B	553	broad.mit.edu	37	chr1	206224826	206224826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatgctgctggccatgaCgctggaccgctacctggctg	6	9	12	14	2	0	1	0	1	0	0	0	2	0	2	3	3	4	5	3	3	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:206224826C>T	uc001hds.2	+	0	544	c.386C>T	c.(385-387)aCg>aTg	p.T129M		NM_000707	NP_000698	P47901	V1BR_HUMAN	Homo sapiens arginine vasopressin receptor 1B (AVPR1B), mRNA.	129					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.T129M(4)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CTGGCCATGACGCTGGACCGC	0.657													T	206224826	C	T	206224826	3	4	132	1	0	0	0	0	1	0	0	0	1237	536	19	1	388	1	AVPR1B	1	206224826	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	20162052	206224826	43025795	13	8847											
CD55	1604	broad.mit.edu	37	chr1	207500170	207500170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccagtggagtgacccgttgCcagagtgcagaggtaagagt	10	8	15	8	1	0	4	0	1	0	3	1	5	1	5	3	2	2	3	3	2	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:207500170C>T	uc001hfq.4	+	4	946	c.652C>T	c.(652-654)Cca>Tca	p.P218S	CD55_uc001hfr.4_Missense_Mutation_p.P218S|CD55_uc010psf.2_Non-coding_Transcript|CD55_uc009xcf.3_Missense_Mutation_p.P154S|CD55_uc009xce.3_Missense_Mutation_p.P218S	NM_000574	NP_000565	P08174	DAF_HUMAN	Homo sapiens CD55 molecule, decay accelerating factor for complement (Cromer blood group) (CD55), transcript variant 1, mRNA.	218	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	TGACCCGTTGCCAGAGTGCAG	0.403													T	207500170	C	T	207500170	3	4	132	1	0	0	0	0	1	0	0	0	3054	739	26	2	670	2	CD55	1	207500170	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	1275344	207500170	41750451	14	8848											
SIPA1L2	57568	broad.mit.edu	37	chr1	232581433	232581433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgggcacccggtgccaCgtggtgttcctcctgaaggg	5	8	17	11	2	0	1	0	1	0	0	2	2	2	2	4	5	1	2	4	5	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:232581433C>T	uc001hvg.3	-	8	3353	c.3195G>A	c.(3193-3195)acG>acA	p.T1065T	SIPA1L2_uc001hvf.3_Silent_p.T139T	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1065					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CCCGGTGCCACGTGGTGTTCC	0.642													T	232581433	C	T	232581433	2	4	132	1	0	0	0	0	0	0	0	1	14424	523	19	1		1	SIPA1L2	1	232581433	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	25081263	232581433	16669188	15	8849											
OR2L13	284521	broad.mit.edu	37	chr1	248262881	248262881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccagctctcccttatGgacctgatgtacatctccac	8	11	6	16	0	3	1	1	1	2	0	5	2	3	2	4	1	3	2	4	1	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248262881G>T	uc001ids.3	+	2	541	c.204G>T	c.(202-204)atG>atT	p.M68I	OR2L13_uc021pmc.1_Missense_Mutation_p.M68I	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TCTCCCTTATGGACCTGATGT	0.547													T	248262881	G	T	248262881	3	4	132	1	0	0	0	0	1	0	0	0	11082	1348	47	4	206	4	OR2L13	1	248262881	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	15681448	248262881	987740	16	8850											
OR2T4	127074	broad.mit.edu	37	chr1	248525679	248525679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactcagcagagggccGgaaaaaggcctttgccacct	12	6	12	11	1	1	2	1	1	0	1	1	4	1	3	4	3	3	1	4	3	3	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr1:248525679G>A	uc001ieh.1	+	0	797	c.797G>A	c.(796-798)cGg>cAg	p.R266Q		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCAGAGGGCCGGAAAAAGGCC	0.547													A	248525679	G	A	248525679	3	1	132	1	0	0	0	0	1	0	0	0	11103	1116	39	1	799	1	OR2T4	1	248525679	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	262798	248525679	724942	17	8851											
NBAS	51594	broad.mit.edu	37	chr2	15417158	15417158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctggtgaaaggcttctgGatcagtcttcaaagtctcaa	10	12	11	8	0	5	1	3	1	3	0	6	2	5	2	0	3	1	2	0	3	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:15417158G>T	uc002rcc.1	-	42	5232	c.5206C>A	c.(5206-5208)Cca>Aca	p.P1736T	NBAS_uc010exl.1_Missense_Mutation_p.P808T|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	1736								p.P1736L(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGGCTTCTGGATCAGTCTTC	0.398													T	15417158	G	T	15417158	3	4	132	1	0	0	0	0	1	0	0	0	10262	1174	41	4	1949	4	NBAS	2	15417158	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		15417158	227782215	18	8852											
ASXL2	55252	broad.mit.edu	37	chr2	25965918	25965918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtggagatgtcttccagCtggaaacctgagtgagcgaa	10	10	13	8	1	1	3	0	2	1	1	2	6	2	4	2	2	3	1	2	2	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:25965918C>T	uc002rgs.2	-	11	3509	c.3288G>A	c.(3286-3288)caG>caA	p.Q1096Q	ASXL2_uc002rgt.1_Silent_p.Q579Q	NM_018263	NP_060733	Q76L83	ASXL2_HUMAN	Homo sapiens additional sex combs like 2 (Drosophila) (ASXL2), mRNA.	1096					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCTTCCAGCTGGAAACCTG	0.493													T	25965918	C	T	25965918	2	4	132	1	0	0	0	0	0	0	0	1	1072	796	28	2		2	ASXL2	2	25965918	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	10548760	25965918	217233455	19	8853											
IL18R1	8809	broad.mit.edu	37	chr2	102984390	102984390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgaaacaaccaccaaaaGctggtacaaaagcagtggat	18	6	9	8	0	0	1	0	1	0	0	0	3	0	2	2	2	5	3	2	2	7	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:102984390G>T	uc002tbw.4	+	2	314	c.164G>T	c.(163-165)aGc>aTc	p.S55I	IL18R1_uc010ywb.1_Missense_Mutation_p.S55I|IL18R1_uc010ywd.2_Intron|IL18R1_uc010fiy.3_Missense_Mutation_p.S55I|IL18R1_uc010ywc.2_Missense_Mutation_p.S55I	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	55	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity	p.S55N(2)		breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACCACCAAAAGCTGGTACAAA	0.448													T	102984390	G	T	102984390	3	4	132	1	0	0	0	0	1	0	0	0	7705	971	34	4	170	4	IL18R1	2	102984390	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	77018472	102984390	140214983	20	8854											
SCN7A	6332	broad.mit.edu	37	chr2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggtccttttccaagaCgcagcatgtgaatgatccgt	8	13	9	11	2	0	3	0	2	0	1	3	3	3	3	4	1	1	2	4	1	2	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:167263066C>T	uc002udu.2	-	24	4203	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468													T	167263066	C	T	167263066	3	4	132	1	0	0	0	0	1	0	0	0	14016	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	64278676	167263066	75936307	21	8855											
ITGA6	3655	broad.mit.edu	37	chr2	173338970	173338970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatttggctatgatgtggcGgtggtggacctcaacaagga	9	11	14	7	1	2	1	2	1	0	0	2	3	2	3	1	6	1	1	1	6	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:173338970G>A	uc002uhp.1	+	5	1166	c.963G>A	c.(961-963)gcG>gcA	p.A321A	ITGA6_uc010fqk.1_Silent_p.A207A|ITGA6_uc010zdy.1_Silent_p.A202A|ITGA6_uc002uho.1_Silent_p.A321A|ITGA6_uc010fqm.1_5'Flank	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	360					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATGATGTGGCGGTGGTGGACC	0.483													A	173338970	G	A	173338970	2	1	132	1	0	0	0	0	0	0	0	1	7938	1103	39	1		1	ITGA6	2	173338970	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	6075904	173338970	69860403	22	8856											
TTN	7273	broad.mit.edu	37	chr2	179528769	179528769	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgggacttcaggcttttTaggaggcaccaccgacactt	9	10	12	10	1	1	0	1	0	0	0	1	3	1	2	2	5	0	2	2	5	1	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:179528769T>G	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.K259Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGCTTTTTAGGAGGCACC	0.388													G	179528769	T	G	179528769	3	3	132	1	0	0	0	0	1	0	0	0	16837	1769	61	5		5	TTN	2	179528769	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	6189799	179528769	63670604	23	8857											
ALPP	250	broad.mit.edu	37	chr2	233246043	233246043	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctatgtgctcaaggaCggcgcccggccggatgttac	7	7	14	13	4	1	0	1	0	0	0	1	2	1	2	3	5	2	3	3	5	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:233246043C>T	uc002vsq.3	+	9	1440	c.1275C>T	c.(1273-1275)gaC>gaT	p.D425D		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	425						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCTCAAGGACGGCGCCCGGC	0.697													T	233246043	C	T	233246043	2	4	132	1	0	0	0	0	0	0	0	1	548	535	19	1		1	ALPP	2	233246043	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	53717274	233246043	9953330	24	8858											
COL6A3	1293	broad.mit.edu	37	chr2	238275874	238275874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcacttcctggaaactgtcCctcctgaagttgatggaacc	10	10	9	12	0	0	2	0	2	0	0	3	4	3	4	4	2	3	2	4	2	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:238275874C>T	uc002vwl.2	-	10	5241	c.4956G>A	c.(4954-4956)agG>agA	p.R1652R	COL6A3_uc002vwo.2_Silent_p.R1446R|COL6A3_uc010znj.1_Silent_p.R1045R	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1652	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGAAACTGTCCCTCCTGAAGT	0.433													T	238275874	C	T	238275874	2	4	132	1	0	0	0	0	0	0	0	1	3732	622	22	2		2	COL6A3	2	238275874	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	5029831	238275874	4923499	25	8859											
OR6B2	389090	broad.mit.edu	37	chr2	240969715	240969715	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagacgatgaggatgatGgccaggttctccaccaggac	10	7	12	12	1	1	3	0	2	1	1	3	6	2	5	4	4	0	1	4	4	0	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr2:240969715G>T	uc010zoc.2	-	0	132	c.132C>A	c.(130-132)gcC>gcA	p.A44A	OR6B2_uc002vyr.3_Silent_p.A44A	NM_001005853	NP_001005853	Q6IFH4	OR6B2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 2 (OR6B2), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		TGAGGATGATGGCCAGGTTCT	0.577													T	240969715	G	T	240969715	2	4	132	1	0	0	0	0	0	0	0	1	11264	1335	47	4		4	OR6B2	2	240969715	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	2693841	240969715	2229658	26	8860											
CHL1	10752	broad.mit.edu	37	chr3	424158	424158	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtttatactaccagaGtatattgttgaatttgaagg	11	16	8	6	0	0	3	0	2	0	1	1	3	1	3	2	1	2	3	2	1	7	9			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:424158G>T	uc003bot.3	+	18	2621	c.1979_splice	c.e18-1	p.E660_splice	CHL1_uc003bou.3_Splice_Site_p.E644_splice|CHL1_uc003bow.2_Splice_Site_p.E644_splice|CHL1_uc011asi.2_Splice_Site_p.E660_splice|BC065754_uc003box.1_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	644	Fibronectin type-III 1.				axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TACTACCAGAGTATATTGTTG	0.338													T	424158	G	T	424158	3	4	132	1	0	0	0	0	1	0	0	0	3379	1043	36	4	2042	4	CHL1	3	424158	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		424158	197598272	27	8861											
POLQ	10721	broad.mit.edu	37	chr3	121206922	121206922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcctggtcccagttaatTttgatttttcagccctttca	6	19	6	10	0	2	1	2	1	0	0	3	1	3	1	3	1	2	1	3	1	1	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:121206922T>G	uc003eee.4	-	15	4985	c.4856A>C	c.(4855-4857)aAa>aCa	p.K1619T	POLQ_uc003eed.3_Missense_Mutation_p.K791T	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	1619					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CCCAGTTAATTTTGATTTTTC	0.408								DNA polymerases (catalytic subunits)					G	121206922	T	G	121206922	3	3	132	1	0	0	0	0	1	0	0	0	12285	1841	64	5	2976	5	POLQ	3	121206922	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	120782764	121206922	76815508	28	8862											
NMNAT3	349565	broad.mit.edu	37	chr3	139297857	139297857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcttcccataggtgtcGttgacaggagagatgatacc	9	13	10	9	1	2	3	0	2	2	1	4	5	3	4	2	2	1	1	2	2	2	5	rs79043406	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:139297857G>A	uc003etj.3	-	1	190	c.150C>T	c.(148-150)aaC>aaT	p.N50N	NMNAT3_uc010hul.3_Intron|NMNAT3_uc003etk.3_Silent_p.N13N|NMNAT3_uc003etl.3_Non-coding_Transcript	NM_178177	NP_835471	Q96T66	NMNA3_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 3 (NMNAT3), transcript variant 1, mRNA.	50					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						CATAGGTGTCGTTGACAGGAG	0.572													A	139297857	G	A	139297857	2	1	132	1	0	0	0	0	0	0	0	1	10576	1136	40	1		1	NMNAT3	3	139297857	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	18090935	139297857	58724573	29	8863											
MCF2L2	23101	broad.mit.edu	37	chr3	182897228	182897228	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctggaaaccagccgtcgcCcccgcaggagccagccggcc	7	2	13	19	4	0	0	0	0	0	0	1	2	0	2	8	3	4	1	8	3	1	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr3:182897228C>T	uc003fli.1	-	29	3375	c.3285G>A	c.(3283-3285)ggG>ggA	p.G1095G		NM_015078	NP_055893	Q86YR7	MF2L2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like 2 (MCF2L2), mRNA.	1095					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CAGCCGTCGCCCCCGCAGGAG	0.741													T	182897228	C	T	182897228	2	4	132	1	0	0	0	0	0	0	0	1	9455	610	22	2		2	MCF2L2	3	182897228	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	43599371	182897228	15125202	30	8864											
DRD5	1816	broad.mit.edu	37	chr4	9784506	9784506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcgcccgacaccagcctgCgcgcttccatcaagaaggag	9	4	12	16	5	1	1	1	0	0	1	2	3	2	2	4	1	2	1	4	1	2	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:9784506C>T	uc003gmb.4	+	0	1249	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	285					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CACCAGCCTGCGCGCTTCCAT	0.627													T	9784506	C	T	9784506	3	4	132	1	0	0	0	0	1	0	0	0	4799	768	27	1	855	1	DRD5	4	9784506	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		9784506	181369770	31	8865											
PCDH7	5099	broad.mit.edu	37	chr4	30724196	30724196	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaccagctgcgcttcacGgtcatggcccgcgaccgcgg	6	6	14	15	6	2	1	2	1	0	0	2	2	2	1	3	3	3	2	3	3	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:30724196G>T	uc003gsk.1	+	0	2160	c.1152G>T	c.(1150-1152)acG>acT	p.T384T	PCDH7_uc011bxx.2_Silent_p.T384T|PCDH7_uc021xnd.1_Silent_p.T384T|PCDH7_uc021xnc.1_Silent_p.T384T	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	384	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TGCGCTTCACGGTCATGGCCC	0.652													T	30724196	G	T	30724196	2	4	132	1	0	0	0	0	0	0	0	1	11592	1103	39	4		4	PCDH7	4	30724196	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	20939690	30724196	160430080	32	8866											
OCIAD1	54940	broad.mit.edu	37	chr4	48852092	48852092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaagcacgacgatcttcaCcacctgggtaggccagattc	11	7	10	13	2	2	1	1	0	1	1	3	4	2	1	3	2	1	2	3	2	2	3	rs150423557		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:48852092C>T	uc010igk.3	+	5	601	c.385C>T	c.(385-387)Cca>Tca	p.P129S	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyq.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyp.3_Missense_Mutation_p.P124S|OCIAD1_uc003gyr.3_Missense_Mutation_p.P124S|OCIAD1_uc021xoc.1_Missense_Mutation_p.P124S	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	124						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						ACGATCTTCACCACCTGGGTA	0.373													T	48852092	C	T	48852092	3	4	132	1	0	0	0	0	1	0	0	0	10893	507	18	2	407	2	OCIAD1	4	48852092	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	18127896	48852092	142302184	33	8867											
SLC39A8	64116	broad.mit.edu	37	chr4	103184237	103184237	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcctgcatacaaggtaatGagtagaatggctgtgaatcc	12	11	10	8	0	1	3	0	2	1	1	3	3	2	3	2	2	2	4	2	2	6	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:103184237G>A	uc003hwb.1	-	7	1876	c.1347C>T	c.(1345-1347)ctC>ctT	p.L449L	SLC39A8_uc011ceo.1_Intron|SLC39A8_uc003hwa.1_Silent_p.L382L|SLC39A8_uc003hwc.2_Silent_p.L449L	NM_022154	NP_071437	Q9C0K1	S39A8_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 8 (SLC39A8), transcript variant 1, mRNA.	449						integral to membrane|organelle membrane|plasma membrane	zinc ion transmembrane transporter activity			large_intestine(1)|lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9		Hepatocellular(203;0.217)		all cancers(1;9.78e-10)|OV - Ovarian serous cystadenocarcinoma(123;1.52e-09)|GBM - Glioblastoma multiforme(1;0.000142)		ACAAGGTAATGAGTAGAATGG	0.348													A	103184237	G	A	103184237	2	1	132	1	0	0	0	0	0	0	0	1	14718	1277	45	2		2	SLC39A8	4	103184237	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	54332145	103184237	87970039	34	8868											
TET2	54790	broad.mit.edu	37	chr4	106158045	106158045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcacaggccaattaaGgtggaacctggatgcaagcc	13	6	12	10	0	0	1	0	0	0	1	0	3	0	3	3	4	4	2	3	4	4	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:106158045G>C	uc011cez.2	+	2	3414	c.3009G>C	c.(3007-3009)aaG>aaC	p.K1003N	TET2_uc003hxk.3_Missense_Mutation_p.K982N|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.K982N|TET2_uc010ilp.2_Missense_Mutation_p.K982N|TET2_uc021xql.1_Missense_Mutation_p.K982N	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	982					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.W1003*(2)|p.W1003fs*1(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGCCAATTAAGGTGGAACCTG	0.473			"Mis N, F"		MDS								C	106158045	G	C	106158045	3	2	132	1	0	0	0	0	1	0	0	0	15870	991	35	4	2948	4	TET2	4	106158045	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	2973808	106158045	84996231	35	8869											
EGF	1950	broad.mit.edu	37	chr4	110880565	110880565	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtgtgcagagggatacgcCctaagtcgagaccggaagta	12	7	14	8	3	0	2	0	0	0	2	1	5	0	4	2	2	2	2	2	2	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:110880565C>A	uc003hzy.4	+	5	1490	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	EGF_uc011cfu.2_Intron|EGF_uc011cfv.2_Silent_p.A346A	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	346	EGF-like 1.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGGATACGCCCTAAGTCGAG	0.502													A	110880565	C	A	110880565	2	1	132	1	0	0	0	0	0	0	0	1	5001	610	22	4		4	EGF	4	110880565	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	4722520	110880565	80273711	36	8870											
TBC1D9	23158	broad.mit.edu	37	chr4	141578365	141578365	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgctgtctttattggtCacactgtctaaatacctgga	9	15	9	8	0	3	0	1	0	2	0	3	1	3	1	1	2	2	1	1	2	4	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr4:141578365C>T	uc010ioj.3	-	12	2495	c.2223G>A	c.(2221-2223)gtG>gtA	p.V741V		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	741						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CTTTATTGGTCACACTGTCTA	0.438													T	141578365	C	T	141578365	2	4	132	1	0	0	0	0	0	0	0	1	15727	813	29	2		2	TBC1D9	4	141578365	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	30697800	141578365	49575911	37	8871											
PCDHB5	26167	broad.mit.edu	37	chr5	140517019	140517019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggacggcttctcccagcCctacctgccgctgccggagg	4	7	14	16	3	1	0	0	0	1	0	2	2	1	2	5	5	4	2	5	5	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:140517019C>T	uc003liq.3	+	0	2220	c.2003C>T	c.(2002-2004)cCc>cTc	p.P668L		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	668	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCCCAGCCCTACCTGCCG	0.701													T	140517019	C	T	140517019	3	4	132	1	0	0	0	0	1	0	0	0	11621	623	22	2	2005	2	PCDHB5	5	140517019	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		140517019	40398241	38	8872											
C5orf25	375484	broad.mit.edu	37	chr5	175717198	175717198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccttgccgtgccccctgcGacctttgccatgcccaccga	4	8	10	19	3	0	0	0	0	0	0	0	2	0	0	8	1	5	0	8	1	0	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:175717198G>A	uc003mds.4	+	3	1021	c.614G>A	c.(613-615)cGa>cAa	p.R205Q	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.R224Q|C5orf25_uc003mdu.1_Missense_Mutation_p.R116Q			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	205	Pro-rich.											all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		TGCCCCCTGCGACCTTTGCCA	0.587													A	175717198	G	A	175717198	3	1	132	1	0	0	0	0	1	0	0	0	2310	1073	37	1		1	C5orf25	5	175717198	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	35200179	175717198	5198062	39	8873											
HK3	3101	broad.mit.edu	37	chr5	176311062	176311062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgagtgatggcttccCgcaacagactcacgacatct	9	9	10	13	3	3	2	1	1	2	1	4	4	4	2	1	1	2	2	1	1	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr5:176311062C>T	uc003mfa.3	-	13	2023	c.1931G>A	c.(1930-1932)cGg>cAg	p.R644Q	HK3_uc003mez.3_Missense_Mutation_p.R200Q	NM_002115	NP_002106	P52790	HXK3_HUMAN	Homo sapiens hexokinase 3 (white cell) (HK3), nuclear gene encoding mitochondrial protein, mRNA.	644	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity	p.R644W(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GATGGCTTCCCGCAACAGACT	0.587													T	176311062	C	T	176311062	3	4	132	1	0	0	0	0	1	0	0	0	7247	652	23	1	864	1	HK3	5	176311062	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	593864	176311062	4604198	40	8874											
DSP	1832	broad.mit.edu	37	chr6	7585169	7585169	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcctcactcaatttgcTgacatgatctccttgaaaaa	12	12	5	12	0	4	3	3	3	1	0	5	3	4	3	2	0	2	1	2	0	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:7585169T>A	uc003mxp.1	+	23	7953	c.7674T>A	c.(7672-7674)gcT>gcA	p.A2558A	DSP_uc003mxq.1_Silent_p.A1959A|DSP_uc021yle.1_Silent_p.A2115A	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2558	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTCAATTTGCTGACATGATCT	0.478													A	7585169	T	A	7585169	2	1	132	1	0	0	0	0	0	0	0	1	4820	1567	55	5		5	DSP	6	7585169	Silent	SNP	T	TCGA-14-0813-01A-01W-0424-08		7585169	163529898	41	8875											
TULP1	7287	broad.mit.edu	37	chr6	35480607	35480607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcagaggcccacaccTctcggagggtttcatcccgc	7	8	10	16	2	3	1	2	0	1	1	5	2	4	2	4	3	0	1	4	3	0	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:35480607T>C	uc003okv.4	-	0	41	c.29A>G	c.(28-30)gAg>gGg	p.E10G	TULP1_uc003okw.4_Missense_Mutation_p.E10G|TULP1_uc021yyx.1_Missense_Mutation_p.E10G|TULP1_uc021yyy.1_Missense_Mutation_p.E10G	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	10					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCCCACACCTCTCGGAGGGT	0.637													C	35480607	T	C	35480607	3	2	132	1	0	0	0	0	1	0	0	0	16875	1551	54	3	1659	3	TULP1	6	35480607	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	27895438	35480607	135634460	42	8876											
TCTE1	202500	broad.mit.edu	37	chr6	44255398	44255398	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcatccgacggatattggcCctgggatgtgggttcctgga	6	10	15	10	3	0	0	0	0	0	0	2	4	2	3	3	5	0	2	3	5	1	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:44255398C>T	uc003oxi.2	-	1	321	c.165G>A	c.(163-165)agG>agA	p.R55R	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_182539	NP_872345	Q5JU00	TCTE1_HUMAN	Homo sapiens t-complex-associated-testis-expressed 1 (TCTE1), mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGATATTGGCCCTGGGATGTG	0.547													T	44255398	C	T	44255398	2	4	132	1	0	0	0	0	0	0	0	1	15817	622	22	2		2	TCTE1	6	44255398	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	8774791	44255398	126859669	43	8877											
LMBRD1	55788	broad.mit.edu	37	chr6	70411373	70411373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatattcagtggattacTcaggttagctccaaaaatta	15	12	7	7	0	2	0	2	0	0	0	3	1	3	1	1	2	3	3	1	2	7	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:70411373T>A	uc003pfa.3	-	10	1321	c.1045A>T	c.(1045-1047)Agt>Tgt	p.S349C	LMBRD1_uc003pez.3_Missense_Mutation_p.S276C|LMBRD1_uc010kal.3_Missense_Mutation_p.S276C|LMBRD1_uc003pfb.3_Non-coding_Transcript	NM_018368	NP_060838	Q9NUN5	LMBD1_HUMAN	Homo sapiens LMBR1 domain containing 1 (LMBRD1), mRNA.	349					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding	p.S349C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						AGTGGATTACTCAGGTTAGCT	0.294													A	70411373	T	A	70411373	3	1	132	1	0	0	0	0	1	0	0	0	8903	1551	54	5	601	5	LMBRD1	6	70411373	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	26155975	70411373	100703694	44	8878											
SIM1	6492	broad.mit.edu	37	chr6	100838922	100838922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcactggccgacccaGggtctggagaactgaccaca	10	7	11	13	1	2	3	1	2	1	1	2	5	2	3	3	3	1	0	3	3	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:100838922G>C	uc003pqj.4	-	10	2083	c.1616C>G	c.(1615-1617)cCt>cGt	p.P539R	SIM1_uc021zdg.1_Missense_Mutation_p.P539R|SIM1_uc010kcu.3_Missense_Mutation_p.P539R	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	539	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGCCGACCCAGGGTCTGGAGA	0.433													C	100838922	G	C	100838922	3	2	132	1	0	0	0	0	1	0	0	0	14417	1000	35	4	688	4	SIM1	6	100838922	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	30427549	100838922	70276145	45	8879											
AIM1	202	broad.mit.edu	37	chr6	106968654	106968654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccaaactgagacccaaaCgtgcatctgctgaacagagc	15	6	8	12	1	1	3	0	2	1	2	2	4	2	3	2	0	6	2	2	0	4	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:106968654C>T	uc003prh.3	+	1	3259	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C		NM_001624	NP_001615	Q9Y4K1	AIM1_HUMAN	Homo sapiens absent in melanoma 1 (AIM1), mRNA.	783							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAGACCCAAACGTGCATCTGC	0.468													T	106968654	C	T	106968654	3	4	132	1	0	0	0	0	1	0	0	0	430	536	19	1	2353	1	AIM1	6	106968654	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	6129732	106968654	64146413	46	8880											
AKD1	221264	broad.mit.edu	37	chr6	109993127	109993127	+	Frame_Shift_Del	DEL	T	T	-																															ttaaaataaacataccaaagTgacagacttctggggagttg																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:109993127delT	uc003ptn.2	-	4	403	c.326delA	c.(325-327)cacfs	p.H109fs	AKD1_uc003ptr.4_Frame_Shift_Del_p.H109fs|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	109					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						CATACCAAAGTGACAGACTTC	0.383													-	109993127	T	-	109993127	7	5	132	1	0	1	0	1	0	0	0	0	460	1696	59	0	5569	0	AKD1	6	109993127	Frame_Shift_Del	DEL	T	TCGA-14-0813-01A-01W-0424-08	3024473	109993127	61121940	47	8881											
RFX6	222546	broad.mit.edu	37	chr6	117203548	117203548	+	Frame_Shift_Del	DEL	C	C	-																															agacaattcgccagaagtttCccctcctaacaacaaggcgg																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr6:117203548delC	uc003pxm.3	+	3	586	c.523delC	c.(523-525)cccfs	p.P175fs		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	175					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCAGAAGTTTCCCCTCCTAAC	0.413													-	117203548	C	-	117203548	7	5	132	1	0	1	0	1	0	0	0	0	13355	855	30	0	537	0	RFX6	6	117203548	Frame_Shift_Del	DEL	C	TCGA-14-0813-01A-01W-0424-08	7210421	117203548	53911519	48	8882											
HOXA9	3205	broad.mit.edu	37	chr7	27204781	27204781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtccggcgccgccgccGccacgggcgcctgggggtgc	1	4	18	18	8	0	0	0	0	0	0	1	0	1	0	7	4	2	0	7	4	0	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:27204781G>A	uc003syt.3	-	0	369	c.296C>T	c.(295-297)gCg>gTg	p.A99V	HOXA9_uc022aar.1_Intron	NM_152739	NP_689952	P31269	HXA9_HUMAN	Homo sapiens homeobox A9 (HOXA9), mRNA.	99							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CGCCGCCGCCGCCACGGGCGC	0.721			T	"NUP98, MSI2"	AML*								A	27204781	G	A	27204781	3	1	132	1	0	0	0	0	1	0	0	0	7353	1087	38	1	530	1	HOXA9	7	27204781	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		27204781	131933882	49	8883											
OGDH	4967	broad.mit.edu	37	chr7	44714133	44714133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagaatggcgtggactaCgtgatcatgggcatgccaca	11	8	14	8	2	1	2	1	2	0	1	1	4	1	3	1	3	2	1	1	3	2	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:44714133C>T	uc003tln.3	+	6	1071	c.912C>T	c.(910-912)taC>taT	p.Y304Y	OGDH_uc003tlm.3_Silent_p.Y304Y|OGDH_uc011kbx.2_Silent_p.Y300Y|OGDH_uc011kby.2_Silent_p.Y154Y|OGDH_uc003tlp.3_Silent_p.Y315Y|OGDH_uc011kbz.2_Silent_p.Y99Y|OGDH_uc003tlo.1_Silent_p.Y137Y	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	304					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	GCGTGGACTACGTGATCATGG	0.562													T	44714133	C	T	44714133	2	4	132	1	0	0	0	0	0	0	0	1	10915	547	19	1		1	OGDH	7	44714133	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	17509352	44714133	114424530	50	8884											
EGFR	1956	broad.mit.edu	37	chr7	55233037	55233037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcgtcaagacctgccCggcaggagtcatgggagaaa	11	5	13	12	2	2	2	2	0	0	2	2	4	2	3	3	3	2	1	3	3	2	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:55233037C>T	uc003tqk.3	+	14	2033	c.1787C>T	c.(1786-1788)cCg>cTg	p.P596L	EGFR_uc003tqi.3_Missense_Mutation_p.P596L|EGFR_uc003tqj.3_Missense_Mutation_p.P596L|EGFR_uc022adm.1_Missense_Mutation_p.P596L|EGFR_uc010kzg.2_Missense_Mutation_p.P551L|EGFR_uc022adn.1_Missense_Mutation_p.P551L|EGFR_uc011kco.2_Missense_Mutation_p.P543L|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	596					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.P596L(7)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAGACCTGCCCGGCAGGAGTC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233037	C	T	55233037	3	4	132	1	0	0	0	0	1	0	0	0	5006	652	23	1	1856	1	EGFR	7	55233037	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	10518904	55233037	103905626	51	8885											
NPTX2	4885	broad.mit.edu	37	chr7	98254345	98254345	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgtacgccttcaccaTctgcctgtggctgcggtcca	5	11	11	14	2	2	1	1	1	1	0	3	1	3	1	4	2	4	3	4	2	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:98254345T>A	uc003upl.2	+	2	932	c.755T>A	c.(754-756)aTc>aAc	p.I252N		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	252	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			GCCTTCACCATCTGCCTGTGG	0.592													A	98254345	T	A	98254345	3	1	132	1	0	0	0	0	1	0	0	0	10679	1435	50	5	765	5	NPTX2	7	98254345	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	43021308	98254345	60884318	52	8886											
LAMB4	22798	broad.mit.edu	37	chr7	107706294	107706294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaatactgattgcttgaggGatcatctggacacaggcaag	14	9	11	7	0	2	2	1	2	1	0	2	4	2	4	0	3	2	2	0	3	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:107706294G>A	uc010ljo.1	-	20	2833	c.2749C>T	c.(2749-2751)Ccc>Tcc	p.P917S	LAMB4_uc003vey.2_Missense_Mutation_p.P917S|LAMB4_uc010ljp.1_5'Flank	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	917	Laminin EGF-like 9.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGCTTGAGGGATCATCTGGA	0.428													A	107706294	G	A	107706294	3	1	132	1	0	0	0	0	1	0	0	0	8672	1174	41	2	2592	2	LAMB4	7	107706294	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9451949	107706294	51432369	53	8887											
MET	4233	broad.mit.edu	37	chr7	116398608	116398608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttagccaaccgagagaCaagcatcttcagttaccgtg	12	9	9	11	2	2	2	1	1	1	1	2	4	2	2	3	0	4	2	3	0	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr7:116398608C>A	uc003vij.3	+	8	2385	c.2198C>A	c.(2197-2199)aCa>aAa	p.T733K	MET_uc022akk.1_Missense_Mutation_p.T733K|MET_uc010lkh.3_Missense_Mutation_p.T733K|MET_uc011kng.1_Missense_Mutation_p.T733K|MET_uc011knh.1_Missense_Mutation_p.T733K|MET_uc011kni.2_Missense_Mutation_p.T733K|MET_uc011knj.2_Missense_Mutation_p.T303K	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	733	IPT/TIG 2.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AACCGAGAGACAAGCATCTTC	0.368			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116398608	C	A	116398608	3	1	132	1	0	0	0	0	1	0	0	0	9560	478	17	4	2228	4	MET	7	116398608	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	8692314	116398608	42740055	54	8888											
MSR1	4481	broad.mit.edu	37	chr8	16021738	16021738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatacattgtaaacaCgctcctctaatttactgatt	11	15	5	10	1	1	2	0	2	1	0	2	2	2	2	1	0	4	3	1	0	5	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:16021738C>T	uc010lsu.3	-	4	771	c.707G>A	c.(706-708)cGt>cAt	p.R236H	MSR1_uc003wwz.3_Missense_Mutation_p.R218H|MSR1_uc003wxa.3_Missense_Mutation_p.R218H|MSR1_uc003wxb.3_Missense_Mutation_p.R218H|MSR1_uc011kxz.2_5'UTR	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	218					cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		ATTGTAAACACGCTCCTCTAA	0.338													T	16021738	C	T	16021738	3	4	132	1	0	0	0	0	1	0	0	0	9962	536	19	1	774	1	MSR1	8	16021738	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		16021738	130342284	55	8889											
ZNF395	55893	broad.mit.edu	37	chr8	28210755	28210755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcggtctcaaagccatgatCagtttggggagaaccaaaag	14	8	11	8	1	2	2	2	1	1	1	4	3	2	2	2	3	2	1	2	3	4	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:28210755C>T	uc003xgq.3	-	4	842	c.754G>A	c.(754-756)Gat>Aat	p.D252N	ZNF395_uc003xgt.3_Missense_Mutation_p.D252N|ZNF395_uc003xgr.3_Missense_Mutation_p.D252N|ZNF395_uc003xgs.3_Missense_Mutation_p.D252N	NM_018660	NP_061130	Q9H8N7	ZN395_HUMAN	Homo sapiens zinc finger protein 395 (ZNF395), mRNA.	252					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(5)|large_intestine(6)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.102)|Kidney(114;0.123)|Colorectal(74;0.142)		AAGCCATGATCAGTTTGGGGA	0.592													T	28210755	C	T	28210755	3	4	132	1	0	0	0	0	1	0	0	0	17982	826	29	2	811	2	ZNF395	8	28210755	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	12189017	28210755	118153267	56	8890											
FER1L6	654463	broad.mit.edu	37	chr8	125110059	125110059	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaccatctggaacactgaAgatgtcattttagaggatga	13	11	11	6	0	2	5	1	3	1	2	2	7	2	7	1	2	1	0	1	2	3	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr8:125110059A>G	uc003yqw.3	+	36	5024	c.4818A>G	c.(4816-4818)gaA>gaG	p.E1606E	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1606	C2 6.					integral to membrane		p.T1605N(2)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			GGAACACTGAAGATGTCATTT	0.423													G	125110059	A	G	125110059	2	3	132	1	0	0	0	0	0	0	0	1	5864	69	3	3		3	FER1L6	8	125110059	Silent	SNP	A	TCGA-14-0813-01A-01W-0424-08	96899304	125110059	21253963	57	8891											
NFIB	4781	broad.mit.edu	37	chr9	14155894	14155894	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactatcctcaaggtaaccTgaaaataaatattaaaggaa	21	9	5	6	0	1	1	1	1	0	0	2	2	2	2	2	2	2	1	2	2	12	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:14155894T>A	uc022bdo.1	-	4	1152	c.617_splice	c.e4-1	p.G206_splice	NFIB_uc003zld.3_Splice_Site|NFIB_uc003zlf.3_Splice_Site_p.G206_splice|NFIB_uc003zle.3_Splice_Site_p.G206_splice|NFIB_uc022bdp.1_Splice_Site_p.G232_splice|NFIB_uc011lmo.2_Splice_Site_p.G206_splice	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	206					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CAAGGTAACCTGAAAATAAAT	0.274			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								A	14155894	T	A	14155894	5	1	132	1	0	0	0	0	0	0	1	0	10447	1594	55	5	671	5	NFIB	9	14155894	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08		14155894	127057537	58	8892											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777209	18777209	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaaggaggccctgcagacCcacaaacaccagaacgggat	14	2	11	14	2	0	2	0	0	0	2	0	5	0	4	4	3	3	1	4	3	3	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:18777209C>G	uc003zne.4	+	18	3134	c.2982C>G	c.(2980-2982)acC>acG	p.T994T		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	994						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCTGCAGACCCACAAACACC	0.687													G	18777209	C	G	18777209	2	3	132	1	0	0	0	0	0	0	0	1	274	610	22	4		4	ADAMTSL1	9	18777209	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	4621315	18777209	122436222	59	8893											
FAM108B1	51104	broad.mit.edu	37	chr9	74485080	74485080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtcagaggagaatgaagaAtaacagcagcactctcatat	18	7	9	7	0	2	4	2	1	1	3	3	5	2	4	0	1	3	2	0	1	6	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:74485080A>G	uc004ail.3	-	2	1168	c.566T>C	c.(565-567)aTt>aCt	p.I189T	FAM108B1_uc004aim.1_Missense_Mutation_p.I189T	NM_016014	NP_057098	Q5VST6	F108B_HUMAN	Homo sapiens family with sequence similarity 108, member B1 (FAM108B1), transcript variant 1, mRNA.	189						extracellular region	hydrolase activity	p.V188D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	11						AGAATGAAGAATAACAGCAGC	0.423													G	74485080	A	G	74485080	3	3	132	1	0	0	0	0	1	0	0	0	5437	101	4	3	339	3	FAM108B1	9	74485080	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	55707871	74485080	66728351	60	8894											
TMC1	117531	broad.mit.edu	37	chr9	75406910	75406910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaatggctactgggaCgcatttttgctcttctttta	7	18	8	8	1	2	1	0	1	2	0	2	2	2	2	0	2	2	3	0	2	3	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:75406910C>T	uc004aiz.1	+	15	1873	c.1333C>T	c.(1333-1335)Cgc>Tgc	p.R445C	TMC1_uc010moz.1_Missense_Mutation_p.R403C|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.R299C|TMC1_uc010mpa.1_Missense_Mutation_p.R299C	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	445					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GCTACTGGGACGCATTTTTGC	0.393													T	75406910	C	T	75406910	3	4	132	1	0	0	0	0	1	0	0	0	16084	536	19	1	1379	1	TMC1	9	75406910	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	921830	75406910	65806521	61	8895											
GRIN3A	116443	broad.mit.edu	37	chr9	104432454	104432454	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacagaaaatggcccaaaggTtcattagaaaccttccagtc	15	9	7	10	0	1	2	1	0	0	2	3	2	2	2	3	2	2	1	3	2	6	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:104432454T>G	uc004bbp.2	-	2	2841	c.2240A>C	c.(2239-2241)aAc>aCc	p.N747T	GRIN3A_uc004bbq.1_Missense_Mutation_p.N747T	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	747					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGCCCAAAGGTTCATTAGAAA	0.433													G	104432454	T	G	104432454	3	3	132	1	0	0	0	0	1	0	0	0	6838	1725	60	5	1135	5	GRIN3A	9	104432454	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	29025544	104432454	36780977	62	8896											
MUSK	4593	broad.mit.edu	37	chr9	113445003	113445003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggatgccttagttgaagaAgtggctactttcatgtgtgc	8	14	13	6	0	1	2	1	1	0	1	1	3	1	3	1	2	3	2	1	2	4	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr9:113445003A>T	uc022blv.1	+	1	263	c.129A>T	c.(127-129)gaA>gaT	p.E43D	MUSK_uc022blt.1_Missense_Mutation_p.E43D|MUSK_uc004bez.2_Missense_Mutation_p.E43D|MUSK_uc022blu.1_Missense_Mutation_p.E43D	NM_005592	NP_005583	O15146	MUSK_HUMAN	Homo sapiens muscle, skeletal, receptor tyrosine kinase (MUSK), transcript variant 1, mRNA.	43	Ig-like 1.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TAGTTGAAGAAGTGGCTACTT	0.378													T	113445003	A	T	113445003	3	4	132	1	0	0	0	0	1	0	0	0	10065	69	3	5	135	5	MUSK	9	113445003	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	9012549	113445003	27768428	63	8897											
GDF2	2658	broad.mit.edu	37	chr10	48413956	48413956	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagccacgtggccatcCgtgtcctcctcgtgactgct	4	9	10	18	4	0	1	0	1	0	0	4	1	3	1	6	1	2	2	6	1	0	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:48413956C>T	uc001jfa.1	-	1	1072	c.912G>A	c.(910-912)acG>acA	p.T304T		NM_016204	NP_057288	Q9UK05	GDF2_HUMAN	Homo sapiens growth differentiation factor 2 (GDF2), mRNA.	304					activin receptor signaling pathway|BMP signaling pathway|cartilage development|cellular iron ion homeostasis|growth|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of DNA replication|negative regulation of endothelial cell proliferation|ossification|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|endometrium(2)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	28						CGTGGCCATCCGTGTCCTCCT	0.607													T	48413956	C	T	48413956	2	4	132	1	0	0	0	0	0	0	0	1	6370	639	23	1		1	GDF2	10	48413956	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08		48413956	87120791	64	8898											
A1CF	29974	broad.mit.edu	37	chr10	52566580	52566580	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctaagtcttgtccaaggGttaccgcttgcttgagctgg	6	13	12	10	1	1	1	0	1	1	0	2	1	2	1	2	2	4	5	2	2	3	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:52566580G>T	uc001jjj.3	-	12	1882	c.1694C>A	c.(1693-1695)aCc>aAc	p.T565N	A1CF_uc010qho.2_Missense_Mutation_p.T573N|A1CF_uc010qhn.2_Missense_Mutation_p.T565N|A1CF_uc009xov.3_Missense_Mutation_p.T557N|A1CF_uc001jji.3_Missense_Mutation_p.T557N|A1CF_uc001jjh.3_Missense_Mutation_p.T565N	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	565					cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TTGTCCAAGGGTTACCGCTTG	0.493													T	52566580	G	T	52566580	3	4	132	1	0	0	0	0	1	0	0	0	2	1261	44	4	94	4	A1CF	10	52566580	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	4152624	52566580	82968167	65	8899											
PTEN	5728	broad.mit.edu	37	chr10	89692883	89692883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaatcatgttgcagcaattCactgtaaagctggaaaggga	15	9	10	7	0	2	0	2	0	0	0	2	2	2	2	0	2	3	5	0	2	5	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:89692883C>T	uc001kfb.3	+	4	1399	c.367C>T	c.(367-369)Cac>Tac	p.H123Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	123	Phosphatase tensin-type.		H -> R (in CD).|H -> Y (in endometrial cancer; loss of protein phosphatase activity).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.H123Y(10)|p.I122fs*2(6)|p.?(5)|p.R55fs*1(5)|p.H123D(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.I122N(1)|p.I122S(1)|p.I122V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGCAATTCACTGTAAAGC	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692883	C	T	89692883	3	4	132	1	0	0	0	0	1	0	0	0	12823	826	29	2	385	2	PTEN	10	89692883	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	37126303	89692883	45841864	66	8900											
FAM178A	55719	broad.mit.edu	37	chr10	102676871	102676871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttgtcactagcttcttaCtgcagagaacgagaactaaa	14	10	8	9	1	2	2	1	0	1	2	2	4	2	2	0	0	5	3	0	0	6	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:102676871C>T	uc001krs.3	+	2	1271	c.729C>T	c.(727-729)taC>taT	p.Y243Y	FAM178A_uc001krr.1_Silent_p.Y243Y|FAM178A_uc001krt.4_Silent_p.Y243Y|FAM178A_uc001kru.1_Silent_p.Y179Y	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	243																	TAGCTTCTTACTGCAGAGAAC	0.473													T	102676871	C	T	102676871	2	4	132	1	0	0	0	0	0	0	0	1	5548	576	20	2		2	FAM178A	10	102676871	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	12983988	102676871	32857876	67	8901											
PCGF6	84108	broad.mit.edu	37	chr10	105108477	105108477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatattcttcttaccttaTgttataaagaggttgtgtct	10	20	6	5	0	3	1	0	0	3	1	3	1	3	1	1	1	1	2	1	1	8	10			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr10:105108477T>C	uc001kwt.3	-	2	621	c.553A>G	c.(553-555)Ata>Gta	p.I185V	PCGF6_uc001kwu.3_Missense_Mutation_p.I185V|PCGF6_uc009xxk.3_Non-coding_Transcript|PCGF6_uc009xxl.3_Non-coding_Transcript	NM_001011663	NP_001011663	Q9BYE7	PCGF6_HUMAN	Homo sapiens polycomb group ring finger 6 (PCGF6), transcript variant 1, mRNA.	185					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TCTTACCTTATGTTATAAAGA	0.284													C	105108477	T	C	105108477	3	2	132	1	0	0	0	0	1	0	0	0	11654	1464	51	3	531	3	PCGF6	10	105108477	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	2431606	105108477	30426270	68	8902											
OR56B4	196335	broad.mit.edu	37	chr11	6129052	6129052	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgactccagcctccagaTttcccagttcatcctgatgg	8	12	7	14	0	1	3	1	2	0	1	5	3	5	3	5	1	1	1	5	1	1	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:6129052T>A	uc010qzx.2	+	0	44	c.44T>A	c.(43-45)aTt>aAt	p.I15N		NM_001005181	NP_001005181	Q8NH76	O56B4_HUMAN	Homo sapiens olfactory receptor, family 56, subfamily B, member 4 (OR56B4), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|lung(10)|skin(6)|urinary_tract(2)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.31e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCCTCCAGATTTCCCAGTTC	0.493													A	6129052	T	A	6129052	3	1	132	1	0	0	0	0	1	0	0	0	11214	1493	52	5	46	5	OR56B4	11	6129052	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08		6129052	128877464	69	8903											
QSER1	79832	broad.mit.edu	37	chr11	32954286	32954286	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtttataggtccagcaaGgttgagaaattgccaccctt	11	11	10	9	0	0	1	0	1	0	1	1	2	1	1	3	3	2	3	3	3	4	6			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:32954286G>A	uc001mty.3	+	3	1362	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	QSER1_uc001mtz.1_Intron|QSER1_uc001mua.3_5'Flank	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	365	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					GGTCCAGCAAGGTTGAGAAAT	0.383													A	32954286	G	A	32954286	2	1	132	1	0	0	0	0	0	0	0	1	12970	991	35	2		2	QSER1	11	32954286	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	26825234	32954286	102052230	70	8904											
OR5AR1	219493	broad.mit.edu	37	chr11	56431526	56431526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagccatggcctatggtcGttttgtggccatttgtcgac	5	13	13	10	2	0	0	0	0	0	0	2	1	0	0	3	4	1	2	3	4	1	4	rs143043362		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:56431526G>A	uc010rjm.2	+	0	365	c.365G>A	c.(364-366)cGt>cAt	p.R122H	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						GCCTATGGTCGTTTTGTGGCC	0.512													A	56431526	G	A	56431526	3	1	132	1	0	0	0	0	1	0	0	0	11221	1145	40	1	367	1	OR5AR1	11	56431526	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	23477240	56431526	78574990	71	8905											
PLAC1L	219990	broad.mit.edu	37	chr11	59807826	59807826	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccaaataaggaggaaaaCgaacgcagctgagcatggga	17	4	12	8	2	0	1	0	1	0	0	0	5	0	4	1	3	5	3	1	3	6	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:59807826C>T	uc001nol.3	+	0						NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAGGAAAACGAACGCAGCT	0.463													T	59807826	C	T	59807826	1	4	132	1	0	0	0	0	0	0	0	0	12090	551	19	1		1	PLAC1L	11	59807826	Translation_Start_Site	SNP	C	TCGA-14-0813-01A-01W-0424-08	3376300	59807826	75198690	72	8906											
MS4A14	84689	broad.mit.edu	37	chr11	60183888	60183888	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccatagaagaaaatccTcaagacggcattccttaaac	17	8	5	11	1	1	3	1	0	0	3	4	3	4	3	3	1	2	1	3	1	8	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:60183888T>A	uc001npj.3	+	4	2012	c.1447T>A	c.(1447-1449)Tca>Aca	p.S483T	MS4A14_uc001npi.3_Missense_Mutation_p.S371T|MS4A14_uc001npn.3_Missense_Mutation_p.S221T|MS4A14_uc001npk.3_Missense_Mutation_p.S466T|MS4A14_uc001npl.3_Missense_Mutation_p.S221T|MS4A14_uc001npm.3_Missense_Mutation_p.S221T	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	483	Gln-rich.					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						AAGAAAATCCTCAAGACGGCA	0.398													A	60183888	T	A	60183888	3	1	132	1	0	0	0	0	1	0	0	0	9934	1551	54	5	1465	5	MS4A14	11	60183888	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	376062	60183888	74822628	73	8907											
AHNAK	79026	broad.mit.edu	37	chr11	62285625	62285625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggccccttggcattgaCgtgcaagtcggaccccggag	6	8	14	13	3	0	1	0	1	0	0	1	3	0	3	4	4	1	2	4	4	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:62285625C>T	uc001ntl.3	-	4	16564	c.16264G>A	c.(16264-16266)Gtc>Atc	p.V5422I	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5422					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGCATTGACGTGCAAGTCG	0.532													T	62285625	C	T	62285625	3	4	132	1	0	0	0	0	1	0	0	0	414	536	19	1	1528	1	AHNAK	11	62285625	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	2101737	62285625	72720891	74	8908											
RBM14	5936	broad.mit.edu	37	chr11	66411364	66411384	+	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	GCTGCTGCTGCAGCAGCAGCC	-																															cctcaggagctgctgccacaGctgctgctgcagcagcagcc																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr11:66411364_66411384delGCTGCTGCTGCAGCAGCAGCC	uc009yrj.3	+	2	1344_1364	c.856_876delGCTGCTGCTGCAGCAGCAGCC	c.(856-876)gctgctgctgcagcagcagccdel	p.AAAAAAA286del	RBM14_uc009yrk.3_In_Frame_Del_p.AAAAAAA261del|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_In_Frame_Del_p.AAAAAAA286del|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_In_Frame_Del_p.AAAAAAA286del	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	480	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						tgctgccacagctgctgctgcagcagcagccgctgctgctg	0.615													-	66411384	GCTGCTGCTGCAGCAGCAGCC	-	66411364	7	5	132	1	0	1	0	1	0	0	0	0	13203	971	34	0		0	RBM14	11	66411364	In_Frame_Del	DEL	GCTGCTGCTGCAGCAGCAGCC	TCGA-14-0813-01A-01W-0424-08	4125739	66411364	68595152	75	8909											
DHH	50846	broad.mit.edu	37	chr12	49483743	49483743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcgcccctagcgcgtGcagcagtctcaagggggcaa	9	4	15	13	3	1	0	1	0	1	0	2	1	1	0	2	2	5	4	2	2	3	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:49483743G>A	uc001rtf.3	-	2	1397	c.1090C>T	c.(1090-1092)Cac>Tac	p.H364Y		NM_021044	NP_066382	O43323	DHH_HUMAN	Homo sapiens desert hedgehog (DHH), mRNA.	364					cell-cell signaling|proteolysis	extracellular space|plasma membrane	calcium ion binding|peptidase activity|zinc ion binding			breast(1)|large_intestine(3)|lung(4)	8						CCTAGCGCGTGCAGCAGTCTC	0.667													A	49483743	G	A	49483743	3	1	132	1	0	0	0	0	1	0	0	0	4522	1319	46	2	104	2	DHH	12	49483743	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		49483743	84368152	76	8910											
ACVRL1	94	broad.mit.edu	37	chr12	52312886	52312887	+	Missense_Mutation	DNP	TG	TG	GT																															ccccaccatccctaaccggcTggctgcagacccggtgaggc																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:52312886_52312887TG>GT	uc001rzj.3	+	8	1647_1648	c.1364_1365TG>GT	c.(1363-1365)ctg>cGT	p.L455R	ACVRL1_uc001rzk.3_Missense_Mutation_p.L455R|ACVRL1_uc010snm.2_Missense_Mutation_p.L281R	NM_000020	NP_001070869	P37023	ACVL1_HUMAN	Homo sapiens activin A receptor type II-like 1 (ACVRL1), transcript variant 1, mRNA.	455	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCTAACCGGCTGGCTGCAGACC	0.599													GT	52312887	TG	GT	52312886	3	3	132	1	0	0	0	0	1	0	0	0	225	1580	55	5	1394	5	ACVRL1	12	52312886	Missense_Mutation	DNP	TG	TCGA-14-0813-01A-01W-0424-08	2829143	52312886	81539009	77	8911											
TPCN1	53373	broad.mit.edu	37	chr12	113730818	113730818	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagctctaccgggaggcacgGggggcctcctcggatgtcac	6	6	16	13	3	2	0	1	0	1	0	4	3	3	2	3	6	2	2	3	6	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:113730818G>C	uc001tux.3	+	26	2583	c.2409G>C	c.(2407-2409)cgG>cgC	p.R803R	TPCN1_uc001tuw.3_Silent_p.R731R|TPCN1_uc010syu.2_5'Flank	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	731						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GGGAGGCACGGGGGGCCTCCT	0.617													C	113730818	G	C	113730818	2	2	132	1	0	0	0	0	0	0	0	1	16496	1219	43	4		4	TPCN1	12	113730818	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	61417932	113730818	20121077	78	8912											
ORAI1	84876	broad.mit.edu	37	chr12	122079191	122079191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccttctccaccgtcatcgGcacgctgctcttcctagctg	4	11	9	17	3	3	0	1	0	2	0	6	0	4	0	4	2	2	4	4	2	1	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr12:122079191G>A	uc021rff.1	+	1	747	c.554G>A	c.(553-555)gGc>gAc	p.G185D		NM_032790	NP_116179	Q96D31	CRCM1_HUMAN	Homo sapiens ORAI calcium release-activated calcium modulator 1 (ORAI1), mRNA.	183					platelet activation|positive regulation of calcium ion transport	integral to plasma membrane	protein binding|store-operated calcium channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000415)|Epithelial(86;0.00148)		ACCGTCATCGGCACGCTGCTC	0.637													A	122079191	G	A	122079191	3	1	132	1	0	0	0	0	1	0	0	0	11333	1203	42	2	560	2	ORAI1	12	122079191	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	8348373	122079191	11772704	79	8913											
ENOX1	55068	broad.mit.edu	37	chr13	43935415	43935415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcataggcgttacttacTtggattttgaggaaaaagag	12	14	10	5	1	1	2	1	1	1	1	2	4	1	4	0	3	2	1	0	3	5	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr13:43935415T>C	uc001uza.4	-	6	682	c.382_splice	c.e6+1	p.N128_splice	ENOX1_uc001uzc.4_Splice_Site_p.N128_splice|ENOX1_uc001uzb.4_Splice_Site_p.N128_splice|ENOX1_uc010tfm.1_5'Flank	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	128	Pro-rich.				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		CGTTACTTACTTGGATTTTGA	0.378													C	43935415	T	C	43935415	3	2	132	1	0	0	0	0	1	0	0	0	5167	1623	56	3	1597	3	ENOX1	13	43935415	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08		43935415	71234463	80	8914											
PRKD1	5587	broad.mit.edu	37	chr14	30068325	30068325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggtgccgcaaagccaCgagtatctgtaaagaagaat	16	7	11	7	2	1	3	0	1	1	2	1	4	1	3	2	1	2	3	2	1	7	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr14:30068325C>T	uc001wqh.3	-	14	2255	c.2074G>A	c.(2074-2076)Gtg>Atg	p.V692M	MIR548AI_uc021rrv.1_Intron	NM_002742	NP_002733	Q15139	KPCD1_HUMAN	Homo sapiens protein kinase D1 (PRKD1), mRNA.	692	Protein kinase.				cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCAAAGCCACGAGTATCTGT	0.368													T	30068325	C	T	30068325	3	4	132	1	0	0	0	0	1	0	0	0	12604	536	19	1	680	1	PRKD1	14	30068325	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		30068325	77281215	81	8915											
MKRN3	7681	broad.mit.edu	37	chr15	23811197	23811197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtccgttgccaagcCgaagcagcggcatttggaca	9	6	13	13	3	0	0	0	0	0	0	1	2	1	1	4	3	4	3	4	3	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:23811197C>T	uc001ywh.4	+	0	744	c.268C>T	c.(268-270)Cga>Tga	p.R90*	MKRN3_uc001ywi.3_Nonsense_Mutation_p.R90*|MKRN3_uc010ayi.1_Nonsense_Mutation_p.R90*	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	90						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.R90L(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTTGCCAAGCCGAAGCAGCGG	0.607													T	23811197	C	T	23811197	4	4	132	1	0	0	0	0	0	1	0	0	9683	644	23	1	270	1	MKRN3	15	23811197	Nonsense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		23811197	78720195	82	8916											
FBN1	2200	broad.mit.edu	37	chr15	48744871	48744871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgggccgttctgacaCtcgtcaatatctacgagcag	10	9	9	13	3	3	1	1	1	2	0	4	2	3	1	1	1	2	2	1	1	3	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:48744871C>A	uc001zwx.2	-	44	5828	c.5433G>T	c.(5431-5433)gaG>gaT	p.E1811D	FBN1_uc010beo.2_Non-coding_Transcript	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1811	EGF-like 30; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CGTTCTGACACTCGTCAATAT	0.488													A	48744871	C	A	48744871	3	1	132	1	0	0	0	0	1	0	0	0	5751	564	20	4	3270	4	FBN1	15	48744871	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	24933674	48744871	53786521	83	8917											
VPS13C	54832	broad.mit.edu	37	chr15	62292774	62292774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgattacctcaacttgtgCttgttgccttgctaaaatta	11	16	6	8	0	1	1	1	1	0	0	1	1	1	1	2	0	5	3	2	0	6	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:62292774C>A	uc002agz.3	-	15	1433	c.1342G>T	c.(1342-1344)Gca>Tca	p.A448S	VPS13C_uc002aha.3_Missense_Mutation_p.A405S|VPS13C_uc002ahb.2_Missense_Mutation_p.A448S|VPS13C_uc002ahc.2_Missense_Mutation_p.A405S	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	448					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCAACTTGTGCTTGTTGCCTT	0.308													A	62292774	C	A	62292774	3	1	132	1	0	0	0	0	1	0	0	0	17293	797	28	4	10227	4	VPS13C	15	62292774	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	13547903	62292774	40238618	84	8918											
TLN2	83660	broad.mit.edu	37	chr15	63058560	63058560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcggtggtccaggaaatcgGacaccttatcgatcccatcg	9	10	10	12	4	0	0	0	0	0	0	6	3	2	2	3	4	0	0	3	4	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:63058560G>A	uc002alb.4	+	37	5135	c.5135G>A	c.(5134-5136)gGa>gAa	p.G1712E	TLN2_uc002alc.4_Missense_Mutation_p.G105E|TLN2_uc002ald.3_Missense_Mutation_p.G105E	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1712					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGGAAATCGGACACCTTATC	0.572													A	63058560	G	A	63058560	3	1	132	1	0	0	0	0	1	0	0	0	16048	1174	41	2	5285	2	TLN2	15	63058560	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	765786	63058560	39472832	85	8919											
SH3GL3	6457	broad.mit.edu	37	chr15	84245409	84245409	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtaggtaagataccagaCgaagaagtcagacaagcggt	16	5	13	7	3	1	4	1	0	0	4	1	6	1	4	1	2	2	2	1	2	6	3	rs138675150	byFrequency	TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:84245409C>T	uc002bjw.3	+	5	735	c.540C>T	c.(538-540)gaC>gaT	p.D180D	SH3GL3_uc010uot.1_Silent_p.D180D|SH3GL3_uc002bjx.3_Silent_p.D111D|SH3GL3_uc002bju.3_Silent_p.D188D|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	180	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AGATACCAGACGAAGAAGTCA	0.383													T	84245409	C	T	84245409	2	4	132	1	0	0	0	0	0	0	0	1	14346	535	19	1		1	SH3GL3	15	84245409	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	21186849	84245409	18285983	86	8920											
CHD2	1106	broad.mit.edu	37	chr15	93563361	93563361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaaggaccaccattatGgggaccggcgacatatggat	12	7	13	9	2	0	0	0	0	0	0	0	4	0	3	3	6	1	1	3	6	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr15:93563361G>A	uc002bsp.3	+	37	5601	c.5026G>A	c.(5026-5028)Ggg>Agg	p.G1676R	CHD2_uc002bso.1_Missense_Mutation_p.G1676R	NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1676					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CCACCATTATGGGGACCGGCG	0.527													A	93563361	G	A	93563361	3	1	132	1	0	0	0	0	1	0	0	0	3355	1348	47	2	5176	2	CHD2	15	93563361	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	9317952	93563361	8968031	87	8921											
IL4R	3566	broad.mit.edu	37	chr16	27363945	27363945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatttcctacagggcaCgggtgagggcctgggctcag	6	8	17	10	1	1	1	1	1	0	0	2	2	2	2	2	5	1	2	2	5	1	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:27363945C>T	uc002don.3	+	6	840	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	IL4R_uc002dom.3_Missense_Mutation_p.R200W|IL4R_uc002dop.4_Missense_Mutation_p.R185W|IL4R_uc010bxy.3_Missense_Mutation_p.R200W|IL4R_uc002doo.3_Missense_Mutation_p.R40W	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	200	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	p.A199V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTACAGGGCACGGGTGAGGGC	0.552													T	27363945	C	T	27363945	3	4	132	1	0	0	0	0	1	0	0	0	7756	527	19	1	616	1	IL4R	16	27363945	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		27363945	62990808	88	8922											
PLCG2	5336	broad.mit.edu	37	chr16	81954828	81954828	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatataaactccctctacgAcgtcagcagaatgtatgtgg	13	10	9	9	2	2	2	1	0	1	2	3	3	3	2	1	1	3	2	1	1	6	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr16:81954828A>C	uc002fgt.3	+	20	2439	c.2261A>C	c.(2260-2262)gAc>gCc	p.D754A	PLCG2_uc010chg.1_Missense_Mutation_p.D754A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	754					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TCCCTCTACGACGTCAGCAGA	0.428													C	81954828	A	C	81954828	3	2	132	1	0	0	0	0	1	0	0	0	12113	275	10	5	2339	5	PLCG2	16	81954828	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	54590883	81954828	8399925	89	8923											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	132	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08		7577094	73618116	90	8924											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578214	+	Frame_Shift_Del	DEL	CGAA	CGAA	-																															agggcaccaccacactatgtCgaaaagtgtttctgtcatcc																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:7578211_7578214delCGAA	uc002gim.2	-	5	829_832	c.635_638delTTCG	c.(634-639)tttcgafs	p.F212fs	TP53_uc002gig.1_Frame_Shift_Del_p.F212fs|TP53_uc002gih.3_Frame_Shift_Del_p.F212fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.F80fs|TP53_uc010cnf.1_Frame_Shift_Del_p.F80fs|TP53_uc002gii.1_Frame_Shift_Del_p.F80fs|TP53_uc010cni.1_Frame_Shift_Del_p.F212fs|TP53_uc010cnh.1_Frame_Shift_Del_p.F212fs|TP53_uc002gij.2_Frame_Shift_Del_p.F212fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.F119fs|TP53_uc002gio.2_Frame_Shift_Del_p.F80fs|TP53_uc010vug.2_Frame_Shift_Del_p.F173fs|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.R213*(467)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(23)|p.R81*(21)|p.R120*(21)|p.R213fs*34(13)|p.R213P(10)|p.T211T(9)|p.0?(8)|p.R213G(8)|p.T211I(7)|p.?(5)|p.F212L(5)|p.R213R(5)|p.R120L(4)|p.F212S(4)|p.R81L(4)|p.T211N(4)|p.R213fs*35(4)|p.T211fs*4(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.T211fs*5(2)|p.R81Q(2)|p.R213>L(2)|p.F212Y(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.T211A(2)|p.T211fs*28(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.R120G(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.F119fs*3(1)|p.R120fs*35(1)|p.F80fs*3(1)|p.R81G(1)|p.T211S(1)|p.T211P(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)		CACACTATGTCGAAAAGTGTTTCT	0.534		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)			-	7578214	CGAA	-	7578211	7	5	132	1	0	1	0	1	0	0	0	0	16482	884	31	0	656	0	TP53	17	7578211	Frame_Shift_Del	DEL	CGAA	TCGA-14-0813-01A-01W-0424-08	1117	7578211	73616999	91	8925											
CDRT1	10626	broad.mit.edu	37	chr17	15517208	15517208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtctcggtatttgctgaaCccagaagacaggtctctgat	11	11	10	9	1	2	4	0	2	2	2	4	4	2	4	1	2	2	2	1	2	4	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:15517208C>T	uc002gor.1	-	8	2077	c.1740G>A	c.(1738-1740)ggG>ggA	p.G580G	CDRT1_uc002gov.4_Silent_p.G270G			O95170	CDRT1_HUMAN	Homo sapiens tripartite motif containing 16 (TRIM16), mRNA.	270										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		ATTTGCTGAACCCAGAAGACA	0.488													T	15517208	C	T	15517208	2	4	132	1	0	0	0	0	0	0	0	1	3204	494	18	2		2	CDRT1	17	15517208	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	7938997	15517208	65678002	92	8926											
KPNB1	3837	broad.mit.edu	37	chr17	45734349	45734349	+	Frame_Shift_Del	DEL	A	A	-																															tcattcctcagctggtggccAatgtcacaaaccccaacagc																										TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr17:45734349delA	uc002ilt.1	+	3	742	c.406delA	c.(406-408)aatfs	p.N136fs	KPNB1_uc010wkw.1_5'UTR|KPNB1_uc010wkx.1_5'UTR	NM_002265	NP_002256	Q14974	IMB1_HUMAN	Homo sapiens karyopherin (importin) beta 1 (KPNB1), mRNA.	136					DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|protein import into nucleus, translocation|ribosomal protein import into nucleus|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein domain specific binding|zinc ion binding			breast(1)|ovary(1)|pancreas(1)|skin(1)	4						GCTGGTGGCCAATGTCACAAA	0.483													-	45734349	A	-	45734349	7	5	132	1	0	1	0	1	0	0	0	0	8493	130	5	0	420	0	KPNB1	17	45734349	Frame_Shift_Del	DEL	A	TCGA-14-0813-01A-01W-0424-08	30217141	45734349	35460861	93	8927											
RBBP8	5932	broad.mit.edu	37	chr18	20573449	20573449	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagattccccaggggagccCtgttcacaggaatgcatcat	12	8	10	11	0	2	1	2	0	0	1	3	3	3	3	3	3	2	2	3	3	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:20573449C>G	uc002kua.3	+	10	1782	c.1659C>G	c.(1657-1659)ccC>ccG	p.P553P	RBBP8_uc002ktw.3_Silent_p.P553P|RBBP8_uc002kty.3_Silent_p.P553P|RBBP8_uc002ktz.3_Silent_p.P553P|RBBP8_uc010xap.2_5'Flank|RBBP8_uc002ktx.1_Silent_p.P553P	NM_203291	NP_976036	Q99708	COM1_HUMAN	Homo sapiens retinoblastoma binding protein 8 (RBBP8), transcript variant 2, mRNA.	553					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity	p.P553P(3)		central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			CAGGGGAGCCCTGTTCACAGG	0.438								Homologous recombination					G	20573449	C	G	20573449	2	3	132	1	0	0	0	0	0	0	0	1	13193	668	24	4		4	RBBP8	18	20573449	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08		20573449	57503799	94	8928											
PSMA8	143471	broad.mit.edu	37	chr18	23738210	23738210	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttatcatgcttggaaggTgagtcatgaatttattaata	13	16	8	4	0	2	2	2	2	0	0	2	3	2	3	0	2	2	1	0	2	7	7			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:23738210T>A	uc002kvq.3	+	4	609	c.495_splice	c.e4+2	p.K165_splice	PSMA8_uc002kvo.3_Splice_Site_p.K121_splice|PSMA8_uc002kvp.3_Splice_Site_p.K159_splice|PSMA8_uc002kvr.3_Splice_Site_p.K133_splice	NM_144662	NP_653263	Q8TAA3	PSA7L_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 8 (PSMA8), transcript variant 1, mRNA.	165					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	threonine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GCTTGGAAGGTGAGTCATGAA	0.299													A	23738210	T	A	23738210	5	1	132	1	0	0	0	0	0	0	1	0	12758	1710	59	5	511	5	PSMA8	18	23738210	Splice_Site	SNP	T	TCGA-14-0813-01A-01W-0424-08	3164761	23738210	54339038	95	8929											
SERPINB3	6317	broad.mit.edu	37	chr18	61323223	61323223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaccgaggtaagtgtaaatCgacacgtgtctctctcatat	12	11	9	9	3	2	0	1	0	2	0	5	3	2	0	1	1	1	2	1	1	5	3	rs143634391		TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr18:61323223C>T	uc002lji.3	-	7	985	c.841G>A	c.(841-843)Gat>Aat	p.D281N	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.D229N	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	281					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						AAGTGTAAATCGACACGTGTC	0.418													T	61323223	C	T	61323223	3	4	132	1	0	0	0	0	1	0	0	0	14195	884	31	1	335	1	SERPINB3	18	61323223	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	37585013	61323223	16754025	96	8930											
FARSA	2193	broad.mit.edu	37	chr19	13041262	13041262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccactcggaacacccggggcCcgtcagccgcactcttgtcc	6	6	10	19	4	2	0	1	0	1	0	4	1	3	1	5	3	2	1	5	3	1	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:13041262C>T	uc002mvs.2	-	2	413	c.365G>A	c.(364-366)gGg>gAg	p.G122E	FARSA_uc010xmv.1_Missense_Mutation_p.G122E	NM_004461	NP_004452	Q9Y285	SYFA_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase, alpha subunit (FARSA), mRNA.	122					phenylalanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|phenylalanine-tRNA ligase activity|protein binding|tRNA binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	20					L-Phenylalanine(DB00120)	CACCCGGGGCCCGTCAGCCGC	0.637													T	13041262	C	T	13041262	3	4	132	1	0	0	0	0	1	0	0	0	5728	623	22	2	1205	2	FARSA	19	13041262	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08		13041262	46087721	97	8931											
ZNF681	148213	broad.mit.edu	37	chr19	23927229	23927229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtgtgaggactgcctaaAggctttgccacattcttcac	10	11	10	10	0	2	1	1	1	1	0	2	2	2	2	2	3	2	1	2	3	3	4			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:23927229A>C	uc002nrk.4	-	3	1265	c.1123T>G	c.(1123-1125)Ttt>Gtt	p.F375V	ZNF681_uc002nrl.4_Missense_Mutation_p.F306V|ZNF681_uc002nrj.4_Missense_Mutation_p.F306V	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GACTGCCTAAAGGCTTTGCCA	0.413													C	23927229	A	C	23927229	3	2	132	1	0	0	0	0	1	0	0	0	18189	72	3	5	818	5	ZNF681	19	23927229	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08	10885967	23927229	35201754	98	8932											
ZNF569	148266	broad.mit.edu	37	chr19	37905163	37905163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcatagagattgtgtcTggaagggaaaaaatcagagt	16	10	11	4	0	3	2	2	0	1	2	3	5	3	4	0	2	1	0	0	2	6	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:37905163T>C	uc002ogj.3	-	8	1401	c.469A>G	c.(469-471)Aga>Gga	p.R157G	ZNF569_uc002ogh.3_5'UTR|ZNF569_uc002ogi.3_Missense_Mutation_p.R133G	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGATTGTGTCTGGAAGGGAAA	0.323													C	37905163	T	C	37905163	3	2	132	1	0	0	0	0	1	0	0	0	18101	1588	55	3	1667	3	ZNF569	19	37905163	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	13977934	37905163	21223820	99	8933											
PRX	57716	broad.mit.edu	37	chr19	40903183	40903183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcggggaaaactaaggCggggcatcttcagggccacc	12	5	13	11	2	2	0	1	0	1	0	3	1	2	1	2	6	1	1	2	6	4	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:40903183C>T	uc002onr.3	-	6	1345	c.1076G>A	c.(1075-1077)cGc>cAc	p.R359H	PRX_uc002onq.3_Missense_Mutation_p.R220H|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	359					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAAACTAAGGCGGGGCATCTT	0.637													T	40903183	C	T	40903183	3	4	132	1	0	0	0	0	1	0	0	0	12727	768	27	1	3313	1	PRX	19	40903183	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	2998020	40903183	18225800	100	8934											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960834	51960834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagggtgagcactgaggagCgggcagtagtggggcccggg	8	5	21	7	2	0	2	0	2	0	0	0	3	0	3	1	6	2	3	1	6	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:51960834C>T	uc002pwt.3	-	1	681	c.614G>A	c.(613-615)cGc>cAc	p.R205H	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Intron	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	205	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACTGAGGAGCGGGCAGTAGT	0.652													T	51960834	C	T	51960834	3	4	132	1	0	0	0	0	1	0	0	0	14408	768	27	1	909	1	SIGLEC8	19	51960834	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	11057651	51960834	7168149	101	8935											
NLRP7	199713	broad.mit.edu	37	chr19	55451643	55451643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcgtggttttccccaCgcctgcggggccgtgcagca	4	7	15	15	4	0	0	0	0	0	0	1	0	1	0	5	4	4	3	5	4	0	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:55451643C>T	uc002qih.4	-	3	620	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	NLRP7_uc010esk.3_Missense_Mutation_p.V182M|NLRP7_uc002qig.4_Missense_Mutation_p.V182M|NLRP7_uc002qii.4_Missense_Mutation_p.V182M|NLRP7_uc010esl.3_Missense_Mutation_p.V210M	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	182	NACHT.						ATP binding	p.V182M(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTTTCCCCACGCCTGCGGGG	0.562													T	55451643	C	T	55451643	3	4	132	1	0	0	0	0	1	0	0	0	10558	536	19	1	2601	1	NLRP7	19	55451643	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	3490809	55451643	3677340	102	8936											
USP29	57663	broad.mit.edu	37	chr19	57641754	57641754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctctcaggagatgattTctgagatcaacagcccattg	12	11	9	9	0	4	3	2	2	2	2	5	5	4	3	1	1	2	0	1	1	2	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr19:57641754T>A	uc002qny.3	+	3	2067	c.1711T>A	c.(1711-1713)Tct>Act	p.S571T	USP29_uc021vci.1_Missense_Mutation_p.S571T	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	571					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAGATGATTTCTGAGATCAA	0.468													A	57641754	T	A	57641754	3	1	132	1	0	0	0	0	1	0	0	0	17161	1783	62	5	1713	5	USP29	19	57641754	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08	2190111	57641754	1487229	103	8937											
SIRPB1	10326	broad.mit.edu	37	chr20	1600544	1600544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccagcagtagcgtcatcAgcaggaaaggactaggaagg	13	5	13	10	1	2	0	2	0	0	0	3	3	3	3	2	4	3	3	2	4	4	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:1600544A>G	uc010gai.3	-	0	146	c.47T>C	c.(46-48)cTg>cCg	p.L16P	SIRPB1_uc002wfk.4_Missense_Mutation_p.L16P|SIRPB1_uc002wfl.4_Missense_Mutation_p.L16P	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	16					cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						TAGCGTCATCAGCAGGAAAGG	0.572													G	1600544	A	G	1600544	3	3	132	1	0	0	0	0	1	0	0	0	14427	188	7	3	2306	3	SIRPB1	20	1600544	Missense_Mutation	SNP	A	TCGA-14-0813-01A-01W-0424-08		1600544	61424976	104	8938											
NINL	22981	broad.mit.edu	37	chr20	25457045	25457045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgaagcggccggcctcaggGgtggctcccacatccgtggc	6	5	15	15	4	1	0	1	0	0	0	3	1	3	0	4	6	1	1	4	6	1	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:25457045G>A	uc002wux.1	-	16	2956	c.2882C>T	c.(2881-2883)cCc>cTc	p.P961L	NINL_uc010gdn.1_Intron	NM_025176	NP_079452	Q9Y2I6	NINL_HUMAN	Homo sapiens ninein-like (NINL), mRNA.	961					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGCCTCAGGGGTGGCTCCCA	0.692													A	25457045	G	A	25457045	3	1	132	1	0	0	0	0	1	0	0	0	10496	1232	43	2	1298	2	NINL	20	25457045	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	23856501	25457045	37568475	105	8939											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547256	37547256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccactcttaaagttcaagGcccccatagaggagatggag	12	7	10	12	0	2	2	1	0	1	2	2	4	2	3	4	3	0	1	4	3	4	3			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:37547256G>A	uc002xje.3	+	10	1840	c.1651G>A	c.(1651-1653)Gcc>Acc	p.A551T	PPP1R16B_uc010ggc.3_Missense_Mutation_p.A509T	NM_015568	NP_056383	Q96T49	PP16B_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 16B (PPP1R16B), transcript variant 1, mRNA.	551					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				AAAGTTCAAGGCCCCCATAGA	0.577													A	37547256	G	A	37547256	3	1	132	1	0	0	0	0	1	0	0	0	12448	1203	42	2	1689	2	PPP1R16B	20	37547256	Missense_Mutation	SNP	G	TCGA-14-0813-01A-01W-0424-08	12090211	37547256	25478264	106	8940											
BMP7	655	broad.mit.edu	37	chr20	55777537	55777537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggggactcaccatccaGcgtctccaccgagagctgca	8	5	12	16	3	2	1	1	0	1	1	4	3	3	2	5	2	3	2	5	2	0	0			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr20:55777537G>A	uc010gip.1	-	2	1283	c.754C>T	c.(754-756)Ctg>Ttg	p.L252L	BMP7_uc002xyc.3_Silent_p.L252L	NM_001719	NP_001710	P18075	BMP7_HUMAN	Homo sapiens bone morphogenetic protein 7 (BMP7), mRNA.	252					BMP signaling pathway|cartilage development|cellular response to hypoxia|epithelial to mesenchymal transition|growth|mesonephros development|negative regulation of glomerular mesangial cell proliferation|negative regulation of MAP kinase activity|negative regulation of mitosis|negative regulation of neuron differentiation|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of phosphorylation|negative regulation of striated muscle cell apoptosis|negative regulation of transcription, DNA-dependent|ossification|pathway-restricted SMAD protein phosphorylation|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|protein localization to nucleus|regulation of removal of superoxide radicals|SMAD protein signal transduction|steroid hormone mediated signaling pathway|ureteric bud development	extracellular space	cytokine activity|growth factor activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20	all_lung(29;0.0133)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;2.49e-13)|Epithelial(14;1.74e-08)|all cancers(14;2.05e-07)			TCACCATCCAGCGTCTCCACC	0.607													A	55777537	G	A	55777537	2	1	132	1	0	0	0	0	0	0	0	1	1471	962	34	2		2	BMP7	20	55777537	Silent	SNP	G	TCGA-14-0813-01A-01W-0424-08	18230281	55777537	7247983	107	8941											
CACNG2	10369	broad.mit.edu	37	chr22	36983511	36983511	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatcgtgtgcactcaCggaggaaatattctgctgtg	13	10	10	8	2	2	0	1	0	1	0	3	2	2	2	0	2	3	2	0	2	5	2			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chr22:36983511C>T	uc003aps.2	-	2	364	c.295_splice	c.e2+1	p.R99_splice		NM_006078	NP_006069	Q9Y698	CCG2_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 2 (CACNG2), mRNA.	99					membrane depolarization|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	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGTGCACTCACGGAGGAAATA	0.507													T	36983511	C	T	36983511	5	4	132	1	0	0	0	0	0	0	1	0	2583	550	19	1	687	1	CACNG2	22	36983511	Splice_Site	SNP	C	TCGA-14-0813-01A-01W-0424-08		36983511	14321055	108	8942											
COL4A5	1287	broad.mit.edu	37	chrX	107827754	107827754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacctggacctcctggacTtgtaagttttttttttttag	6	18	7	10	0	0	0	0	0	0	0	1	2	1	2	4	2	0	2	4	2	2	8			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:107827754T>C	uc022ccg.1	+	18	1234	c.1032_splice	c.e18+1	p.L344_splice	COL4A5_uc004enz.1_Splice_Site_p.L344_splice|COL4A5_uc004eob.1_Splice_Site	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	344	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CCTCCTGGACTTGTAAGTTTT	0.343									Alport syndrome with Diffuse Leiomyomatosis				C	107827754	T	C	107827754	3	2	132	1	0	0	0	0	1	0	0	0	3725	1623	56	3	1101	3	COL4A5	23	107827754	Missense_Mutation	SNP	T	TCGA-14-0813-01A-01W-0424-08		107827754	47442806	109	8943											
AFF2	2334	broad.mit.edu	37	chrX	147743983	147743983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaagaatctgaattcgcCgtgcaagcgcctgggtctcc	8	8	12	13	4	2	2	0	1	2	1	4	3	2	3	4	2	2	1	4	2	4	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:147743983C>T	uc004fcp.3	+	2	1214	c.735C>T	c.(733-735)gcC>gcT	p.A245A	AFF2_uc004fco.3_Silent_p.A241A|AFF2_uc004fcq.3_Silent_p.A241A|AFF2_uc004fcr.3_Silent_p.A241A|AFF2_uc011mxb.2_Silent_p.A245A|AFF2_uc004fcs.3_Silent_p.A241A	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	245					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAATTCGCCGTGCAAGCGC	0.458													T	147743983	C	T	147743983	2	4	132	1	0	0	0	0	0	0	0	1	357	639	23	1		1	AFF2	23	147743983	Silent	SNP	C	TCGA-14-0813-01A-01W-0424-08	39916229	147743983	7526577	110	8944											
MAGEA12	4111	broad.mit.edu	37	chrX	151900520	151900520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcaggaaaggtgcttggcCcttcctgttcttcgttgctg	4	14	13	10	1	2	0	1	0	1	0	4	1	3	1	2	4	2	4	2	4	1	5			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:151900520C>A	uc022chj.1	-	0	281	c.281G>T	c.(280-282)gGg>gTg	p.G94V	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Missense_Mutation_p.G94V|MAGEA12_uc022chi.1_Missense_Mutation_p.G94V|MAGEA12_uc004fgc.3_Missense_Mutation_p.G94V|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	94										breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCTTGGCCCTTCCTGTTC	0.547													A	151900520	C	A	151900520	3	1	132	1	0	0	0	0	1	0	0	0	9237	623	22	4	667	4	MAGEA12	23	151900520	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	4156537	151900520	3370040	111	8945											
ARHGAP4	393	broad.mit.edu	37	chrX	153184317	153184317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgggggtggtagtcaaagCgcagcgggggacagaagacg	11	4	19	7	3	1	2	1	0	0	2	1	3	1	3	0	5	2	2	0	5	3	1			TCGA-14-0813-01A-01W-0424-08	TCGA-14-0813-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	754cd19e-a319-4ddf-887b-ddca4914cdf9	ac74e345-6044-426b-9b56-eee2e8fc9f4b	g.chrX:153184317C>T	uc004fjk.2	-	6	1059	c.1001G>A	c.(1000-1002)cGc>cAc	p.R334H	ARHGAP4_uc011mzf.2_Missense_Mutation_p.R311H|ARHGAP4_uc004fjl.2_Missense_Mutation_p.R374H|ARHGAP4_uc010nup.2_Non-coding_Transcript	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	334					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTAGTCAAAGCGCAGCGGGGG	0.617													T	153184317	C	T	153184317	3	4	132	1	0	0	0	0	1	0	0	0	888	768	27	1	1903	1	ARHGAP4	23	153184317	Missense_Mutation	SNP	C	TCGA-14-0813-01A-01W-0424-08	1283797	153184317	2086243	112	8946											
ARHGEF16	27237	broad.mit.edu	37	chr1	3395016	3395016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacatggtccaggactacGcccagatgaaccacatccag	12	6	9	14	1	0	2	0	1	0	1	2	3	2	3	4	2	3	1	4	2	3	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:3395016G>A	uc001akg.4	+	11	1902	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	ARHGEF16_uc001aki.3_Missense_Mutation_p.A264T|ARHGEF16_uc001akj.3_Missense_Mutation_p.A264T|ARHGEF16_uc010nzh.2_Missense_Mutation_p.A256T	NM_014448	NP_055263	Q5VV41	ARHGG_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 16 (ARHGEF16), mRNA.	552	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CCAGGACTACGCCCAGATGAA	0.657													A	3395016	G	A	3395016	3	1	133	1	0	0	0	0	1	0	0	0	902	1087	38	1	1696	1	ARHGEF16	1	3395016	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		3395016	245855605	1	8947											
HCRTR1	3061	broad.mit.edu	37	chr1	32084903	32084903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccgctatctgtggcGcgattatctgtacccaaaac	8	13	8	12	3	3	0	0	0	3	0	4	1	3	0	2	1	2	3	2	1	5	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:32084903G>A	uc009vtx.2	+	2	495	c.110G>A	c.(109-111)cGc>cAc	p.R37H	HCRTR1_uc001btc.4_Missense_Mutation_p.A11T|HCRTR1_uc001btd.2_Missense_Mutation_p.R37H|HCRTR1_uc010ogl.2_Missense_Mutation_p.R37H	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	37					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TATCTGTGGCGCGATTATCTG	0.607													A	32084903	G	A	32084903	3	1	133	1	0	0	0	0	1	0	0	0	7056	1087	38	1	112	1	HCRTR1	1	32084903	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	28689887	32084903	217165718	2	8948											
KANK4	163782	broad.mit.edu	37	chr1	62740564	62740564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcaggaaggctgaagtttCggggcagagtgctaaatttg	10	11	15	5	1	1	2	1	1	0	1	2	3	1	3	0	4	1	4	0	4	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:62740564C>T	uc001dah.4	-	2	589	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	KANK4_uc001dai.4_Intron|KANK4_uc001dag.4_5'Flank	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	71								p.R71Q(6)|p.R71R(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGAAGTTTCGGGGCAGAGT	0.557													T	62740564	C	T	62740564	3	4	133	1	0	0	0	0	1	0	0	0	8037	884	31	1	2807	1	KANK4	1	62740564	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	30655661	62740564	186510057	3	8949											
TGFBR3	7049	broad.mit.edu	37	chr1	92224221	92224221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgtcttcagatgccaCaccagggggtgtggggagtt	6	11	14	10	0	3	1	1	0	2	1	4	2	3	2	2	4	1	1	2	4	0	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:92224221C>T	uc001doh.3	-	3	848	c.333G>A	c.(331-333)gtG>gtA	p.V111V	TGFBR3_uc009wde.3_5'UTR|TGFBR3_uc010osy.2_Silent_p.V69V|TGFBR3_uc001doi.3_Silent_p.V111V|TGFBR3_uc001doj.3_Silent_p.V111V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	111					BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		TCAGATGCCACACCAGGGGGT	0.507													T	92224221	C	T	92224221	2	4	133	1	0	0	0	0	0	0	0	1	15923	465	17	2		2	TGFBR3	1	92224221	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	29483657	92224221	157026400	4	8950											
PSRC1	84722	broad.mit.edu	37	chr1	109823399	109823399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcctcctgacctcttacCcttgtgtccactttcccgca	4	15	4	18	1	2	1	0	1	2	0	6	1	6	1	6	0	1	1	6	0	1	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:109823399C>T	uc001dxj.3	-	5	1140	c.994_splice	c.e5+1	p.V332_splice	PSRC1_uc001dxb.3_Splice_Site_p.V132_splice|PSRC1_uc001dxc.3_Splice_Site_p.V302_splice|PSRC1_uc001dxd.3_Splice_Site_p.V302_splice|PSRC1_uc001dxf.3_Splice_Site_p.G268_splice	NM_032636	NP_116025	Q6PGN9	PSRC1_HUMAN	Homo sapiens proline/serine-rich coiled-coil 1 (PSRC1), transcript variant 1, mRNA.	332	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		GACCTCTTACCCTTGTGTCCA	0.552													T	109823399	C	T	109823399	3	4	133	1	0	0	0	0	1	0	0	0	12804	637	22	2	141	2	PSRC1	1	109823399	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	17599178	109823399	139427222	5	8951											
SYT6	148281	broad.mit.edu	37	chr1	114682285	114682285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgcagccgggtgtgaCgcatgatgtgctccttgacc	5	9	14	13	3	0	3	0	3	0	0	1	3	1	3	4	1	3	4	4	1	0	1	rs138691067		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:114682285C>T	uc021osa.1	-	1	542	c.464G>A	c.(463-465)cGt>cAt	p.R155H	SYT6_uc021orz.1_Missense_Mutation_p.R70H|SYT6_uc001eev.3_Missense_Mutation_p.R70H	NM_001253772	NP_001240701	Q5T7P8	SYT6_HUMAN	Homo sapiens synaptotagmin VI (SYT6), transcript variant 1, mRNA.	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity	p.R70H(1)		central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCGGGTGTGACGCATGATGTG	0.622													T	114682285	C	T	114682285	3	4	133	1	0	0	0	0	1	0	0	0	15575	536	19	1	1092	1	SYT6	1	114682285	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	4858886	114682285	134568336	6	8952											
FLG	2312	broad.mit.edu	37	chr1	152282266	152282266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacagatgaatcttgtctgCgcccagtgcctgagtctgtg	7	12	11	11	1	3	3	0	2	3	1	3	3	3	3	2	0	3	0	2	0	2	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:152282266C>T	uc001ezu.1	-	2	5132	c.5096G>A	c.(5095-5097)cGc>cAc	p.R1699H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1699	Ser-rich.		R -> C (in dbSNP:rs12405278).		keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G1698W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATCTTGTCTGCGCCCAGTGCC	0.572									Ichthyosis				T	152282266	C	T	152282266	3	4	133	1	0	0	0	0	1	0	0	0	5971	768	27	1	7093	1	FLG	1	152282266	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	37599981	152282266	96968355	7	8953											
PKLR	5313	broad.mit.edu	37	chr1	155264433	155264433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagcgcaggtctcggaCgtcctgctcggacagcccgg	6	5	14	16	6	1	0	0	0	1	0	4	3	2	2	3	4	3	2	3	4	1	0	rs142395015	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:155264433C>T	uc001fkb.4	-	5	844	c.805G>A	c.(805-807)Gtc>Atc	p.V269I	PKLR_uc001fka.4_Missense_Mutation_p.V238I	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	269					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCTCGGACGTCCTGCTCG	0.672													T	155264433	C	T	155264433	3	4	133	1	0	0	0	0	1	0	0	0	12053	536	19	1	943	1	PKLR	1	155264433	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	2982167	155264433	93986188	8	8954											
KCNH1	3756	broad.mit.edu	37	chr1	210977475	210977475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgttggaaaatagtcGtcacattcccgaagatggtg	12	11	10	8	2	2	1	1	0	1	1	4	3	3	2	1	2	0	1	1	2	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr1:210977475G>A	uc001hib.2	-	7	1666	c.1496C>T	c.(1495-1497)aCg>aTg	p.T499M	KCNH1_uc001hic.2_Missense_Mutation_p.T472M	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	499					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GAAAATAGTCGTCACATTCCC	0.478													A	210977475	G	A	210977475	3	1	133	1	0	0	0	0	1	0	0	0	8089	1145	40	1	1489	1	KCNH1	1	210977475	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	55713042	210977475	38273146	9	8955											
AUP1	550	broad.mit.edu	37	chr2	74756731	74756731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtcaaagagccgctccGgccccggccctgagggaagc	8	3	15	15	4	1	2	1	1	0	1	2	4	2	3	5	3	2	1	5	3	2	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:74756731G>A	uc002smh.3	-	0					AUP1_uc002sme.3_5'Flank|AUP1_uc002smf.3_Missense_Mutation_p.P9L|AUP1_uc002smg.3_Non-coding_Transcript|AUP1_uc010yrx.2_Missense_Mutation_p.R40W|AUP1_uc021vjm.1_5'UTR|AUP1_uc010yry.2_Missense_Mutation_p.P9L|HTRA2_uc002smi.1_5'UTR|HTRA2_uc002smj.1_5'UTR|HTRA2_uc002smk.1_5'UTR|HTRA2_uc002sml.1_5'UTR|HTRA2_uc010ffl.3_5'Flank			Q9Y679	AUP1_HUMAN	Homo sapiens ancient ubiquitous protein 1 (AUP1), mRNA.							endoplasmic reticulum membrane|integral to membrane|nucleus	protein binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	11						GAGCCGCTCCGGCCCCGGCCC	0.711													A	74756731	G	A	74756731	3	1	133	1	0	0	0	0	1	0	0	0	1225	1116	39	1	1254	1	AUP1	2	74756731	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		74756731	168442642	10	8956											
ASTL	431705	broad.mit.edu	37	chr2	96795617	96795617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtagagtttgaggacccGggtgatgtccgaggcactca	8	8	15	10	3	1	3	1	2	0	1	2	5	2	4	3	3	0	3	3	3	1	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:96795617G>A	uc010yui.2	-	7	820	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	274					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						TTGAGGACCCGGGTGATGTCC	0.652													A	96795617	G	A	96795617	3	1	133	1	0	0	0	0	1	0	0	0	1068	1115	39	1	482	1	ASTL	2	96795617	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	22038886	96795617	146403756	11	8957											
ACMSD	130013	broad.mit.edu	37	chr2	135621053	135621053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaccccaggaggttcgtggGtctggggacgttgcccatgc	5	9	15	12	2	1	0	0	0	1	0	2	2	1	2	3	5	3	2	3	5	1	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:135621053G>T	uc002ttz.3	+	4	405	c.338G>T	c.(337-339)gGt>gTt	p.G113V	ACMSD_uc002tua.3_Missense_Mutation_p.G55V	NM_138326	NP_612199	Q8TDX5	ACMSD_HUMAN	Homo sapiens aminocarboxymuconate semialdehyde decarboxylase (ACMSD), mRNA.	113					quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding	p.V112V(1)		endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		AGGTTCGTGGGTCTGGGGACG	0.587													T	135621053	G	T	135621053	3	4	133	1	0	0	0	0	1	0	0	0	144	1261	44	4	356	4	ACMSD	2	135621053	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	38825436	135621053	107578320	12	8958											
SCN7A	6332	broad.mit.edu	37	chr2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggtccttttccaagaCgcagcatgtgaatgatccgt	8	13	9	11	2	0	3	0	2	0	1	3	3	3	3	4	1	1	2	4	1	2	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:167263066C>T	uc002udu.2	-	24	4203	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468													T	167263066	C	T	167263066	3	4	133	1	0	0	0	0	1	0	0	0	14016	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	31642013	167263066	75936307	13	8959											
TTN	7273	broad.mit.edu	37	chr2	179575562	179575562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatcggttgtgtgcccGtgacgtggcactcaaagtca	7	12	11	11	3	2	1	2	1	0	0	3	1	2	1	2	2	1	2	2	2	2	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:179575562G>A	uc021vsy.1	-	94	24755	c.24530C>T	c.(24529-24531)aCg>aTg	p.T8177M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.T4838M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9104	Ig-like 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTGTGCCCGTGACGTGGCA	0.522													A	179575562	G	A	179575562	3	1	133	1	0	0	0	0	1	0	0	0	16837	1145	40	1	76327	1	TTN	2	179575562	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	12312496	179575562	63623811	14	8960											
PLCL1	5334	broad.mit.edu	37	chr2	198968641	198968641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaactgagagctttgcttGgaacattacagtattgaagg	13	11	11	6	0	0	2	0	2	0	1	0	4	0	3	0	2	6	4	0	2	5	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:198968641G>A	uc010fsp.3	+	4	3484	c.3086G>A	c.(3085-3087)tGg>tAg	p.W1029*	PLCL1_uc002uuv.4_Nonsense_Mutation_p.W950*	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	1029					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	AGCTTTGCTTGGAACATTACA	0.403													A	198968641	G	A	198968641	4	1	133	1	0	0	0	0	0	1	0	0	12116	1357	47	2	3104	2	PLCL1	2	198968641	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	19393079	198968641	44230732	15	8961											
ESPNL	339768	broad.mit.edu	37	chr2	239039147	239039147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgcagccacatctccCgcctggtacgcagcctgtcc	5	9	10	17	2	2	0	0	0	2	0	4	0	3	0	5	2	4	3	5	2	1	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr2:239039147C>T	uc002vxq.4	+	8	1902	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	ESPNL_uc010fyw.3_Missense_Mutation_p.R294C	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	598										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACATCTCCCGCCTGGTACG	0.692													T	239039147	C	T	239039147	3	4	133	1	0	0	0	0	1	0	0	0	5296	652	23	1	1826	1	ESPNL	2	239039147	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	40070506	239039147	4160226	16	8962											
CSPG5	10675	broad.mit.edu	37	chr3	47619104	47619104	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaatggcagggggcatgaTtgactgcccgaggacctcgt	9	7	16	9	2	0	2	0	2	0	0	1	5	0	4	2	5	1	2	2	5	1	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:47619104T>C	uc003crp.4	-	1	588	c.412A>G	c.(412-414)Atc>Gtc	p.I138V	CSPG5_uc003crn.3_5'UTR|CSPG5_uc003cro.4_Missense_Mutation_p.I138V|CSPG5_uc021wxh.1_Missense_Mutation_p.I138V|CSPG5_uc021wxi.1_5'UTR|CSPG5_uc011bbb.2_5'UTR	NM_001206943	NP_001193872	O95196	CSPG5_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 5 (neuroglycan C) (CSPG5), transcript variant 3, mRNA.	138					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGGGGCATGATTGACTGCCCG	0.692													C	47619104	T	C	47619104	3	2	133	1	0	0	0	0	1	0	0	0	3994	1493	52	3	1223	3	CSPG5	3	47619104	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08		47619104	150403326	17	8963											
KBTBD12	166348	broad.mit.edu	37	chr3	127682174	127682174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactccgcaccaattccacCaatgcaggggcagtggatgg	10	7	11	13	1	1	0	1	0	0	0	3	1	3	1	4	4	1	3	4	4	2	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr3:127682174C>T	uc010hsr.3	+	3	1638	c.1635C>T	c.(1633-1635)acC>acT	p.T545T	KBTBD12_uc003ejy.4_Silent_p.T152T|KBTBD12_uc010hsq.3_Non-coding_Transcript|KBTBD12_uc003eka.4_Silent_p.T120T|5S_rRNA_uc021xdi.1_5'Flank	NM_207335	NP_997218	Q3ZCT8	KBTBC_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 12 (KBTBD12), mRNA.	545										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						CCAATTCCACCAATGCAGGGG	0.532													T	127682174	C	T	127682174	2	4	133	1	0	0	0	0	0	0	0	1	8049	581	21	2		2	KBTBD12	3	127682174	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	80063070	127682174	70340256	18	8964											
CNGA1	1259	broad.mit.edu	37	chr4	47938532	47938532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagaaatttctcaaccttgGttaatctttgtttcagtttc	9	19	5	8	0	4	1	3	0	2	1	6	1	4	1	1	1	1	3	1	1	3	6			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:47938532G>T	uc003gxu.3	-	9	2327	c.2186C>A	c.(2185-2187)aCc>aAc	p.T729N	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Missense_Mutation_p.T660N	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	660					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						CTCAACCTTGGTTAATCTTTG	0.463													T	47938532	G	T	47938532	3	4	133	1	0	0	0	0	1	0	0	0	3627	1261	44	4	97	4	CNGA1	4	47938532	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		47938532	143215744	19	8965											
CENPE	1062	broad.mit.edu	37	chr4	104068560	104068560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagctggtcatgtttaaCttcaagggcttcttttatcg	7	18	8	8	1	4	0	3	0	1	0	5	0	4	0	0	2	2	3	0	2	3	7			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:104068560C>A	uc003hxb.1	-	28	4177	c.4087G>T	c.(4087-4089)Gtt>Ttt	p.V1363F	CENPE_uc003hxc.1_Missense_Mutation_p.V1338F	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1363					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TCATGTTTAACTTCAAGGGCT	0.343													A	104068560	C	A	104068560	3	1	133	1	0	0	0	0	1	0	0	0	3260	565	20	4	4102	4	CENPE	4	104068560	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	56130028	104068560	87085716	20	8966											
FBXW7	55294	broad.mit.edu	37	chr4	153244185	153244185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccaatgtgactaggtttcGaataaattcacccgttttca	11	14	6	10	2	2	1	2	1	0	0	4	2	3	1	2	1	0	2	2	1	5	6	rs144247898		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:153244185G>A	uc003ims.3	-	11	2134	c.1972C>T	c.(1972-1974)Cga>Tga	p.R658*	FBXW7_uc011cii.2_Nonsense_Mutation_p.R658*|FBXW7_uc003imt.3_Nonsense_Mutation_p.R658*|FBXW7_uc011cih.2_Nonsense_Mutation_p.R482*|FBXW7_uc003imq.3_Nonsense_Mutation_p.R578*|FBXW7_uc003imr.3_Nonsense_Mutation_p.R540*	NM_033632	NP_361014	Q969H0	FBXW7_HUMAN	Homo sapiens F-box and WD repeat domain containing 7 (FBXW7), transcript variant 1, mRNA.	658					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R658*(6)|p.R658Q(1)|p.R578*(1)|p.?(1)|p.R419*(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACTAGGTTTCGAATAAATTCA	0.473			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								A	153244185	G	A	153244185	4	1	133	1	0	0	0	0	0	1	0	0	5818	1066	37	1	155	1	FBXW7	4	153244185	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	49175625	153244185	37910091	21	8967											
NPY5R	4889	broad.mit.edu	37	chr4	164271738	164271738	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cactgacgtctgtcttgctgGatcagtggatgtttggcaaa	8	13	12	8	1	3	1	1	1	2	0	3	3	3	3	0	3	1	3	0	3	1	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr4:164271738G>C	uc003iqn.3	+	3	495	c.313G>C	c.(313-315)Gat>Cat	p.D105H	NPY5R_uc021xtw.1_Missense_Mutation_p.D105H	NM_006174	NP_006165	Q15761	NPY5R_HUMAN	Homo sapiens neuropeptide Y receptor Y5 (NPY5R), mRNA.	105					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TGTCTTGCTGGATCAGTGGAT	0.393													C	164271738	G	C	164271738	3	2	133	1	0	0	0	0	1	0	0	0	10686	1174	41	4	315	4	NPY5R	4	164271738	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	11027553	164271738	26882538	22	8968											
SLC9A3	6550	broad.mit.edu	37	chr5	482707	482707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatgatggtggtgctgaCgaacaggttcttctccttga	8	13	12	8	2	2	3	0	3	2	0	3	5	2	3	1	3	3	2	1	3	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:482707C>T	uc003jbe.2	-	6	1424	c.1312G>A	c.(1312-1314)Gtc>Atc	p.V438I	SLC9A3_uc011clx.1_Missense_Mutation_p.V438I	NM_004174	NP_004165	P48764	SL9A3_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 3 (SLC9A3), mRNA.	438						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTGGTGCTGACGAACAGGTTC	0.652													T	482707	C	T	482707	3	4	133	1	0	0	0	0	1	0	0	0	14807	536	19	1	1236	1	SLC9A3	5	482707	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		482707	180432553	23	8969											
GPR98	84059	broad.mit.edu	37	chr5	89954051	89954051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaatacaaaaaagtgacAatgcaaatggcttgtttggt	17	11	8	5	0	0	1	0	1	0	0	0	1	0	1	0	2	3	3	0	2	8	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr5:89954051A>G	uc003kju.3	+	20	4804	c.4708A>G	c.(4708-4710)Aat>Gat	p.N1570D	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1570					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAAAGTGACAATGCAAATGG	0.343													G	89954051	A	G	89954051	3	3	133	1	0	0	0	0	1	0	0	0	6776	130	5	3	4790	3	GPR98	5	89954051	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	89471344	89954051	90961209	24	8970											
NUP153	9972	broad.mit.edu	37	chr6	17616339	17616339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacctttatttcctgcGtctaacagcagtctttatct	8	17	6	10	1	3	1	0	1	3	0	4	1	4	1	2	0	3	1	2	0	3	6			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:17616339G>A	uc003ncd.1	-	21	4617	c.4417C>T	c.(4417-4419)Cgc>Tgc	p.R1473C	NUP153_uc011dje.1_Missense_Mutation_p.R1504C|NUP153_uc010jpl.1_Missense_Mutation_p.R1431C	NM_005124	NP_005115	P49790	NU153_HUMAN	Homo sapiens nucleoporin 153kDa (NUP153), mRNA.	1473					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TATTTCCTGCGTCTAACAGCA	0.388													A	17616339	G	A	17616339	3	1	133	1	0	0	0	0	1	0	0	0	10831	1145	40	1	14	1	NUP153	6	17616339	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		17616339	153498728	25	8971											
SUPT3H	8464	broad.mit.edu	37	chr6	44922308	44922308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttatctccatactgctgCagtccaaccagtctcgaaat	10	13	6	12	1	2	0	0	0	2	0	5	1	3	0	3	0	4	3	3	0	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:44922308C>T	uc003oxp.3	-	7	783	c.617G>A	c.(616-618)tGc>tAc	p.C206Y	SUPT3H_uc003oxn.1_Missense_Mutation_p.C206Y|SUPT3H_uc003oxo.3_Missense_Mutation_p.C217Y|SUPT3H_uc011dvv.2_Missense_Mutation_p.C54Y|SUPT3H_uc011dvw.2_Missense_Mutation_p.C120Y	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	288					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATACTGCTGCAGTCCAACCA	0.348													T	44922308	C	T	44922308	3	4	133	1	0	0	0	0	1	0	0	0	15493	710	25	2	352	2	SUPT3H	6	44922308	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	27305969	44922308	126192759	26	8972											
MEP1A	4224	broad.mit.edu	37	chr6	46761453	46761453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatttcagaaatcaatttaGgtgagttcaatttttgtgtt	12	19	7	3	0	3	2	3	1	0	1	3	2	3	2	0	1	0	2	0	1	5	8			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:46761453G>A	uc011dwh.1	+	2	237	c.229_splice	c.e2+1	p.A77_splice	MEP1A_uc010jzh.1_Splice_Site_p.A49_splice|MEP1A_uc011dwg.1_Splice_Site|MEP1A_uc011dwi.1_Splice_Site	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	49	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AATCAATTTAGGTGAGTTCAA	0.313													A	46761453	G	A	46761453	3	1	133	1	0	0	0	0	1	0	0	0	9550	1014	35	2	155	2	MEP1A	6	46761453	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	1839145	46761453	124353614	27	8973											
HTR1E	3354	broad.mit.edu	37	chr6	87725079	87725079	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcacaaactgtaccacagaGgccagcatggctataagacc	15	6	8	12	0	1	2	1	0	0	2	1	2	1	2	3	2	3	3	3	2	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:87725079G>A	uc003pli.3	+	1	730	c.27G>A	c.(25-27)gaG>gaA	p.E9E	HTR1E_uc021zcg.1_Silent_p.E9E	NM_000865	NP_000856	P28566	5HT1E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1E (HTR1E), mRNA.	9					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GTACCACAGAGGCCAGCATGG	0.473													A	87725079	G	A	87725079	2	1	133	1	0	0	0	0	0	0	0	1	7497	991	35	2		2	HTR1E	6	87725079	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	40963626	87725079	83389988	28	8974											
GRM1	2911	broad.mit.edu	37	chr6	146720758	146720758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccgcatgcatgttggCgatggcaagctgccctgccg	5	10	14	12	3	0	0	0	0	0	0	1	1	1	0	3	2	4	6	3	2	1	2	rs148042148		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:146720758C>T	uc010khw.1	+	7	3053	c.2583C>T	c.(2581-2583)ggC>ggT	p.G861G	GRM1_uc010khv.1_Silent_p.G861G|GRM1_uc003qll.2_Silent_p.G861G|GRM1_uc011edz.1_Silent_p.G861G|GRM1_uc011eea.1_Silent_p.G861G	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	861					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGCATGTTGGCGATGGCAAGC	0.522													T	146720758	C	T	146720758	2	4	133	1	0	0	0	0	0	0	0	1	6851	755	27	1		1	GRM1	6	146720758	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	58995679	146720758	24394309	29	8975											
SYNE1	23345	broad.mit.edu	37	chr6	152763368	152763368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttctttgctgagatccGctttgtcttttgctagaagc	5	18	8	10	1	3	2	0	1	3	2	5	3	4	2	1	0	3	3	1	0	2	6	rs140780725		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:152763368G>A	uc021zhb.1	-	28	4073	c.3850C>T	c.(3850-3852)Cgg>Tgg	p.R1284W	SYNE1_uc003qot.4_Missense_Mutation_p.R1291W|SYNE1_uc003qou.4_Missense_Mutation_p.R1284W|SYNE1_uc010kjb.1_Missense_Mutation_p.R1267W|SYNE1_uc003qow.3_Missense_Mutation_p.R579W|SYNE1_uc003qox.1_Missense_Mutation_p.R800W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1284					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)		GCTGAGATCCGCTTTGTCTTT	0.512										HNSCC(10;0.0054)			A	152763368	G	A	152763368	3	1	133	1	0	0	0	0	1	0	0	0	15542	1086	38	1	23080	1	SYNE1	6	152763368	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	6042610	152763368	18351699	30	8976											
SLC22A2	6582	broad.mit.edu	37	chr6	160662608	160662608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaggaacagatgtggaCgccaagattcctagaatgca	14	8	11	8	1	0	4	0	1	0	3	1	6	1	6	2	2	2	1	2	2	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:160662608C>T	uc003qtf.3	-	8	1573	c.1399G>A	c.(1399-1401)Gtc>Atc	p.V467I		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	467					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.G466A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		CAGATGTGGACGCCAAGATTC	0.453													T	160662608	C	T	160662608	3	4	133	1	0	0	0	0	1	0	0	0	14545	536	19	1	280	1	SLC22A2	6	160662608	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	7899240	160662608	10452459	31	8977											
UNC93A	54346	broad.mit.edu	37	chr6	167728686	167728686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgcagctctctacggcGttctgtttgagaagagcaag	8	11	11	11	2	3	2	0	1	3	2	4	3	3	2	1	1	4	5	1	1	3	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr6:167728686G>A	uc003qvq.3	+	7	1295	c.1120G>A	c.(1120-1122)Gtt>Att	p.V374I	UNC93A_uc003qvr.3_Missense_Mutation_p.V332I	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	374						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TCTCTACGGCGTTCTGTTTGA	0.567													A	167728686	G	A	167728686	3	1	133	1	0	0	0	0	1	0	0	0	17098	1145	40	1	1150	1	UNC93A	6	167728686	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	7066078	167728686	3386381	32	8978											
CALN1	83698	broad.mit.edu	37	chr7	71488740	71488740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcatgaattcatcaaaatCcacctggccatcccctgcaa	12	9	6	14	0	3	1	3	1	0	0	5	1	5	1	5	2	1	1	5	2	4	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:71488740C>A	uc003twb.4	-	4	794	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	CALN1_uc003twa.4_Missense_Mutation_p.D93Y|CALN1_uc003twc.4_Missense_Mutation_p.D93Y	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	93						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.E135K(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TCATCAAAATCCACCTGGCCA	0.458													A	71488740	C	A	71488740	3	1	133	1	0	0	0	0	1	0	0	0	2617	855	30	4	394	4	CALN1	7	71488740	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		71488740	87649923	33	8979											
ABCB1	5243	broad.mit.edu	37	chr7	87148697	87148697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaagtaggctccaaaccGgaaacatccagcataggaaa	17	4	8	12	1	0	0	0	0	0	0	2	2	2	2	4	3	3	3	4	3	6	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:87148697G>A	uc003uiz.2	-	23	3365	c.2872C>T	c.(2872-2874)Cgg>Tgg	p.R958W	ABCB1_uc011khc.2_Missense_Mutation_p.R894W	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	958	ABC transmembrane type-1 2.				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)	GCTCCAAACCGGAAACATCCA	0.378													A	87148697	G	A	87148697	3	1	133	1	0	0	0	0	1	0	0	0	40	1115	39	1	994	1	ABCB1	7	87148697	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	15659957	87148697	71989966	34	8980											
PEX1	5189	broad.mit.edu	37	chr7	92120719	92120719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggactgatctaagccaCattctccatctccagctgaa	12	9	7	13	0	3	2	0	2	3	0	5	3	3	3	3	1	2	1	3	1	3	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:92120719C>A	uc003uly.3	-	20	3401	c.3305G>T	c.(3304-3306)tGt>tTt	p.C1102F	PEX1_uc011khr.2_Missense_Mutation_p.C894F|PEX1_uc010ley.3_Missense_Mutation_p.C1045F|PEX1_uc011khs.2_Missense_Mutation_p.C780F	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	1102					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATCTAAGCCACATTCTCCATC	0.428													A	92120719	C	A	92120719	3	1	133	1	0	0	0	0	1	0	0	0	11812	478	17	4	562	4	PEX1	7	92120719	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	4972022	92120719	67017944	35	8981											
NPTX2	4885	broad.mit.edu	37	chr7	98254301	98254301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcacaaactacctataCggcaagatcaagaagacgct	15	6	7	13	3	1	3	1	0	0	3	2	3	2	3	2	1	3	3	2	1	7	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:98254301C>T	uc003upl.2	+	2	888	c.711C>T	c.(709-711)taC>taT	p.Y237Y		NM_002523	NP_002514	P47972	NPTX2_HUMAN	Homo sapiens neuronal pentraxin II (NPTX2), mRNA.	237	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			ACTACCTATACGGCAAGATCA	0.587													T	98254301	C	T	98254301	2	4	133	1	0	0	0	0	0	0	0	1	10679	547	19	1		1	NPTX2	7	98254301	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	6133582	98254301	60884362	36	8982											
LMOD2	442721	broad.mit.edu	37	chr7	123302696	123302696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcattttgacaagaaatatGgataaacagaggcaaaaacg	20	7	9	5	1	0	3	0	1	0	2	0	4	0	4	0	2	3	2	0	2	7	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:123302696G>A	uc003vky.2	+	1	1213	c.1056G>A	c.(1054-1056)atG>atA	p.M352I		NM_207163	NP_997046	Q6P5Q4	LMOD2_HUMAN	Homo sapiens leiomodin 2 (cardiac) (LMOD2), mRNA.	352						cytoskeleton	actin binding|tropomyosin binding	p.M352I(1)									CAAGAAATATGGATAAACAGA	0.473													A	123302696	G	A	123302696	3	1	133	1	0	0	0	0	1	0	0	0	8918	1348	47	2	1062	2	LMOD2	7	123302696	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	25048395	123302696	35835967	37	8983											
TRPV5	56302	broad.mit.edu	37	chr7	142622682	142622682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtgcggttgccaccaCgaaacttaagggggcggtag	11	7	15	8	3	0	1	0	1	0	0	0	2	0	1	2	4	3	2	2	4	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:142622682C>T	uc003wby.1	-	7	1328	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	TRPV5_uc003wbz.3_Missense_Mutation_p.R355H	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	355					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R355L(2)|p.R355H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GTTGCCACCACGAAACTTAAG	0.517													T	142622682	C	T	142622682	3	4	133	1	0	0	0	0	1	0	0	0	16700	536	19	1	1157	1	TRPV5	7	142622682	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	19319986	142622682	16515981	38	8984											
OR2A12	346525	broad.mit.edu	37	chr7	143792808	143792808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctatttgcgggttctgCgttcatcttagtggggccgc	3	14	14	10	3	3	0	1	0	2	0	4	0	4	0	2	4	2	2	2	4	2	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:143792808C>T	uc011kty.2	+	0	608	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GCGGGTTCTGCGTTCATCTTA	0.537													T	143792808	C	T	143792808	3	4	133	1	0	0	0	0	1	0	0	0	11051	768	27	1	610	1	OR2A12	7	143792808	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	1170126	143792808	15345855	39	8985											
SSPO	23145	broad.mit.edu	37	chr7	149502623	149502623	+	Frame_Shift_Del	DEL	C	C	-																															agccctggggattcatcctgCccaggagatgccacccagga																										TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:149502623delC	uc010lpk.3	+	56	8427	c.8427delC	c.(8425-8427)tgcfs	p.C2809fs		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	2812	TSP type-1 7.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ATTCATCCTGCCCAGGAGATG	0.682													-	149502623	C	-	149502623	7	5	133	1	0	1	0	1	0	0	0	0	15285	747	26	0	8658	0	SSPO	7	149502623	Frame_Shift_Del	DEL	C	TCGA-14-0817-01A-01W-0424-08	5709815	149502623	9636040	40	8986											
NOS3	4846	broad.mit.edu	37	chr7	150703567	150703567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctacaacagctcccctcGgccggaacagcacaagtgag	11	4	9	17	2	0	1	0	1	0	0	2	2	1	2	5	2	5	2	5	2	4	1	rs145168353	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr7:150703567G>A	uc003wif.3	+	14	2101	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	NOS3_uc011kuy.2_Missense_Mutation_p.R396Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	602	Flavodoxin-like.		R -> Q (in a colorectal cancer sample; somatic mutation).		anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R602Q(2)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGCTCCCCTCGGCCGGAACAG	0.542													A	150703567	G	A	150703567	3	1	133	1	0	0	0	0	1	0	0	0	10620	1116	39	1	2141	1	NOS3	7	150703567	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	1200944	150703567	8435096	41	8987											
PRSS55	203074	broad.mit.edu	37	chr8	10390524	10390524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taccaaaaatatgctgtgtgCcggatacaagaatgagagct	15	9	10	7	1	0	2	0	1	0	2	0	4	0	3	2	1	5	2	2	1	7	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:10390524C>T	uc003wta.3	+	3	747	c.707C>T	c.(706-708)gCc>gTc	p.A236V	AK307207_uc010lru.3_Intron|PRSS55_uc022art.1_Missense_Mutation_p.A236V|PRSS55_uc003wtb.3_Non-coding_Transcript	NM_198464	NP_940866	Q6UWB4	PRS55_HUMAN	Homo sapiens protease, serine, 55 (PRSS55), transcript variant 1, mRNA.	236	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.C235G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						ATGCTGTGTGCCGGATACAAG	0.483													T	10390524	C	T	10390524	3	4	133	1	0	0	0	0	1	0	0	0	12719	739	26	2	721	2	PRSS55	8	10390524	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		10390524	135973498	42	8988											
PHYHIP	9796	broad.mit.edu	37	chr8	22079191	22079191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtacatgcagtagaagtccGcaaagtagaggttggtgctg	11	10	14	6	1	0	2	0	0	0	2	1	2	1	2	1	2	3	7	1	2	5	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:22079191G>A	uc003xbk.4	-	5	1362	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PHYHIP_uc003xbj.4_Missense_Mutation_p.A223V	NM_001099335	NP_055574	Q92561	PHYIP_HUMAN	Homo sapiens phytanoyl-CoA 2-hydroxylase interacting protein (PHYHIP), transcript variant 1, mRNA.	223										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		GTAGAAGTCCGCAAAGTAGAG	0.657													A	22079191	G	A	22079191	3	1	133	1	0	0	0	0	1	0	0	0	11943	1087	38	1	328	1	PHYHIP	8	22079191	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	11688667	22079191	124284831	43	8989											
SULF1	23213	broad.mit.edu	37	chr8	70536309	70536309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagaaacattgctaagcGtcatgatgaaggccacaagg	16	6	10	9	1	1	3	1	2	0	1	1	3	1	3	2	2	3	1	2	2	5	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70536309G>A	uc003xyg.2	+	13	2288	c.1727G>A	c.(1726-1728)cGt>cAt	p.R576H	SULF1_uc010lza.1_Missense_Mutation_p.R576H|SULF1_uc003xyd.2_Missense_Mutation_p.R576H|SULF1_uc003xye.2_Missense_Mutation_p.R576H|SULF1_uc003xyf.2_Missense_Mutation_p.R576H|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	576					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R576C(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTGCTAAGCGTCATGATGAA	0.498													A	70536309	G	A	70536309	3	1	133	1	0	0	0	0	1	0	0	0	15466	1145	40	1	1769	1	SULF1	8	70536309	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	48457118	70536309	75827713	44	8990											
SLCO5A1	81796	broad.mit.edu	37	chr8	70744225	70744225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcgttgggggccgaggcGttcaactcttggatctggta	5	11	15	10	4	3	0	1	0	2	0	4	2	3	1	2	5	1	3	2	5	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr8:70744225G>A	uc003xyl.3	-	1	1391	c.684C>T	c.(682-684)aaC>aaT	p.N228N	SLCO5A1_uc010lzb.3_Silent_p.N228N|SLCO5A1_uc011lfa.2_Non-coding_Transcript|SLCO5A1_uc003xyk.3_Silent_p.N228N|SLCO5A1_uc010lzc.2_Silent_p.N228N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	228						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			GGGCCGAGGCGTTCAACTCTT	0.637													A	70744225	G	A	70744225	2	1	133	1	0	0	0	0	0	0	0	1	14825	1136	40	1		1	SLCO5A1	8	70744225	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	207916	70744225	75619797	45	8991											
KIAA1161	57462	broad.mit.edu	37	chr9	34372688	34372688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgcgcgaagtcgctccGccttgcgtagggagacgctg	5	7	15	14	7	0	1	0	0	0	1	3	3	2	1	3	1	1	4	3	1	2	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:34372688G>A	uc003zue.4	-	2	418	c.251C>T	c.(250-252)gCg>gTg	p.A84V		NM_020702	NP_065753	Q6NSJ0	K1161_HUMAN	Homo sapiens KIAA1161 (KIAA1161), mRNA.	85					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AAGTCGCTCCGCCTTGCGTAG	0.662													A	34372688	G	A	34372688	3	1	133	1	0	0	0	0	1	0	0	0	8269	1087	38	1	1894	1	KIAA1161	9	34372688	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		34372688	106840743	46	8992											
USP20	10868	broad.mit.edu	37	chr9	132625554	132625555	+	Frame_Shift_Del	DEL	TC	TC	-																															caagagctaccagaagctggTctctgaggtctggcataaga																										TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr9:132625554_132625555delTC	uc004bys.2	+	8	798_799	c.587_588delTC	c.(586-588)gtcfs	p.V196fs	USP20_uc004byr.2_Frame_Shift_Del_p.V196fs|USP20_uc004byt.1_Frame_Shift_Del_p.V196fs	NM_001110303	NP_006667	Q9Y2K6	UBP20_HUMAN	Homo sapiens ubiquitin specific peptidase 20 (USP20), transcript variant 3, mRNA.	196					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CAGAAGCTGGTCTCTGAGGTCT	0.589													-	132625555	TC	-	132625554	7	5	133	1	0	1	0	1	0	0	0	0	17154	1667	58	0	613	0	USP20	9	132625554	Frame_Shift_Del	DEL	TC	TCGA-14-0817-01A-01W-0424-08	98252866	132625554	8587877	47	8993											
FAM107B	83641	broad.mit.edu	37	chr10	14816316	14816316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccactgcttcacagtccGccccatcatccagggacccg	9	6	7	19	2	2	0	2	0	0	0	4	1	4	1	6	1	1	1	6	1	0	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:14816316G>A	uc001ina.1	-	0	581	c.347C>T	c.(346-348)gCg>gTg	p.A116V	FAM107B_uc010qbu.1_Non-coding_Transcript	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	0										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTCACAGTCCGCCCCATCATC	0.572													A	14816316	G	A	14816316	3	1	133	1	0	0	0	0	1	0	0	0	5435	1087	38	1	593	1	FAM107B	10	14816316	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		14816316	120718431	48	8994											
AGAP5	729092	broad.mit.edu	37	chr10	75434500	75434500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtaccagatcaggagctgtgCcaggaccacattccccttgc	9	8	10	14	0	1	1	1	0	0	1	2	3	2	3	5	2	4	2	5	2	1	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:75434500C>T	uc009xri.3	-	7	1959	c.1918G>A	c.(1918-1920)Gca>Aca	p.A640T	AGAP5_uc001juu.4_Missense_Mutation_p.A601T	NM_001144000	NP_001137472	A6NIR3	AGAP5_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 5 (AGAP5), mRNA.	640					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						AGGAGCTGTGCCAGGACCACA	0.667													T	75434500	C	T	75434500	3	4	133	1	0	0	0	0	1	0	0	0	371	739	26	2	146	2	AGAP5	10	75434500	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	60618184	75434500	60100247	49	8995											
C10orf12	26148	broad.mit.edu	37	chr10	98741767	98741767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagctgccaactgttcGtacactggccagaaatttac	10	12	9	10	1	0	2	0	1	0	1	1	2	0	2	2	1	5	3	2	1	4	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:98741767G>A	uc001kmv.3	+	0	727	c.620G>A	c.(619-621)cGt>cAt	p.R207H	C10orf12_uc009xvg.2_Missense_Mutation_p.R517H	NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	207										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAACTGTTCGTACACTGGCC	0.433													A	98741767	G	A	98741767	3	1	133	1	0	0	0	0	1	0	0	0	1600	1145	40	1	622	1	C10orf12	10	98741767	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	23307267	98741767	36792980	50	8996											
FANK1	92565	broad.mit.edu	37	chr10	127677132	127677132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtctaggggatatgcaacGaagcatgttgttgaaggtct	10	12	13	6	1	2	1	0	1	2	0	2	3	2	2	0	3	3	4	0	3	5	4	rs146192515		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr10:127677132G>A	uc009yan.3	+	2	308	c.204G>A	c.(202-204)acG>acA	p.T68T	FANK1_uc010quk.1_Silent_p.T62T|FANK1_uc001ljh.4_Silent_p.T68T|FANK1_uc001lji.3_Silent_p.T62T	NM_145235	NP_660278	Q8TC84	FANK1_HUMAN	Homo sapiens fibronectin type III and ankyrin repeat domains 1 (FANK1), mRNA.	68	Fibronectin type-III.					cytoplasm|nucleus		p.T68T(2)		central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GATATGCAACGAAGCATGTTG	0.512													A	127677132	G	A	127677132	2	1	133	1	0	0	0	0	0	0	0	1	5721	1045	37	1		1	FANK1	10	127677132	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	28935365	127677132	7857615	51	8997											
INS-IGF2	3630	broad.mit.edu	37	chr11	2181082	2181082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgcctgcgggctgcgtCtagttgcagtagttctccag	4	11	15	11	2	2	0	0	0	2	0	3	0	2	0	2	2	4	6	2	2	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:2181082C>T	uc021qcd.1	-	1	571	c.333G>A	c.(331-333)taG>taA	p.*111*	IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Silent_p.*111*|INS-IGF2_uc001lvn.2_Silent_p.*111*|INS-IGF2_uc009ydg.1_Splice_Site_p.*99_splice	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	0					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		CGGGCTGCGTCTAGTTGCAGT	0.612													T	2181082	C	T	2181082	2	4	133	1	0	0	0	0	0	0	0	1	7821	924	32	2		2	INS-IGF2	11	2181082	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08		2181082	132825434	52	8998											
CSNK2A1	283106	broad.mit.edu	37	chr11	11374589	11374589	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccaccacatgtgactcGtaatcccagtattctcgagg	10	11	7	13	2	1	1	0	1	1	0	5	2	3	1	3	1	0	2	3	1	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:11374589G>C	uc001mjp.3	-	0	316	c.78C>G	c.(76-78)taC>taG	p.Y26*	GALNTL4_uc001mjo.2_Intron	NM_177559	NP_808227	P68400	CSK21_HUMAN	Homo sapiens casein kinase 2, alpha 1 polypeptide (CSNK2A1), transcript variant 1, mRNA.	26					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			CATGTGACTCGTAATCCCAGT	0.473													C	11374589	G	C	11374589	4	2	133	1	0	0	0	0	0	1	0	0	3990	1160	40	4		4	CSNK2A1	11	11374589	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	9193507	11374589	123631927	53	8999											
SLC5A12	159963	broad.mit.edu	37	chr11	26734241	26734241	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaactggtttgttgaatcGtagttgtaagtactaaagga	12	13	12	4	2	0	1	0	1	0	0	1	3	0	2	0	2	2	6	0	2	7	7			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:26734241G>A	uc001mra.2	-	1	665	c.352C>T	c.(352-354)Cga>Tga	p.R118*	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Nonsense_Mutation_p.R118*	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	118					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TTGTTGAATCGTAGTTGTAAG	0.418													A	26734241	G	A	26734241	4	1	133	1	0	0	0	0	0	1	0	0	14758	1153	40	1	1560	1	SLC5A12	11	26734241	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	15359652	26734241	108272275	54	9000											
LRRC4C	57689	broad.mit.edu	37	chr11	40135944	40135944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgagtctcttgtacattGtctttagagttcattcggat	8	19	8	6	1	3	2	1	1	2	1	5	3	3	3	0	1	1	2	0	1	2	8			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:40135944G>T	uc021qgf.1	-	0	1899	c.1899C>A	c.(1897-1899)gaC>gaA	p.D633E	LRRC4C_uc001mxc.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxd.1_Missense_Mutation_p.D629E|LRRC4C_uc001mxa.1_Missense_Mutation_p.D633E|LRRC4C_uc001mxb.1_Missense_Mutation_p.D629E	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	633					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CTTGTACATTGTCTTTAGAGT	0.318													T	40135944	G	T	40135944	3	4	133	1	0	0	0	0	1	0	0	0	9078	1368	48	4	27	4	LRRC4C	11	40135944	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	13401703	40135944	94870572	55	9001											
OR5AR1	219493	broad.mit.edu	37	chr11	56431699	56431699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcaatcatttcttctgcGaaatcccaccactcttggcc	9	13	4	15	1	6	0	3	0	3	0	7	1	7	0	3	1	1	0	3	1	2	3	rs138342920		TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56431699G>A	uc010rjm.2	+	0	538	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E180K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						TTTCTTCTGCGAAATCCCACC	0.483													A	56431699	G	A	56431699	3	1	133	1	0	0	0	0	1	0	0	0	11221	1059	37	1	540	1	OR5AR1	11	56431699	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	16295755	56431699	78574817	56	9002											
OR9G4	283189	broad.mit.edu	37	chr11	56511283	56511283	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactatcatgagaagggaaaAtcatcacttagtgttttttc	13	14	8	6	0	3	1	3	1	0	1	4	4	3	2	0	1	0	1	0	1	5	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:56511283A>T	uc010rjo.2	-	0	5	c.5T>A	c.(4-6)aTt>aAt	p.I2N		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AGAAGGGAAAATCATCACTTA	0.383													T	56511283	A	T	56511283	3	4	133	1	0	0	0	0	1	0	0	0	11327	101	4	5	981	5	OR9G4	11	56511283	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	79584	56511283	78495233	57	9003											
OR4D6	219983	broad.mit.edu	37	chr11	59224665	59224665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttttttcatctatcaccGtccccaagttcctggtggat	6	16	7	12	2	3	0	2	0	1	0	6	1	5	1	4	2	0	2	4	2	2	5	rs144983296	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:59224665G>A	uc010rku.2	+	0	232	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ATCTATCACCGTCCCCAAGTT	0.468													A	59224665	G	A	59224665	3	1	133	1	0	0	0	0	1	0	0	0	11134	1145	40	1	234	1	OR4D6	11	59224665	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	2713382	59224665	75781851	58	9004											
ARHGEF17	9828	broad.mit.edu	37	chr11	73073628	73073628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatctccattgcaggctcGggcttggagatgacgccggg	7	8	14	12	3	1	2	0	1	1	1	3	3	1	2	2	4	1	3	2	4	0	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:73073628G>A	uc001otu.3	+	13	4866	c.4845G>A	c.(4843-4845)tcG>tcA	p.S1615S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1615					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TTGCAGGCTCGGGCTTGGAGA	0.706													A	73073628	G	A	73073628	2	1	133	1	0	0	0	0	0	0	0	1	903	1103	39	1		1	ARHGEF17	11	73073628	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	13848963	73073628	61932888	59	9005											
ODZ4	26011	broad.mit.edu	37	chr11	78383335	78383335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcttctctgtgcgtgttaCgcgatcaaagtccagagata	10	12	10	9	3	3	1	1	0	2	1	5	4	4	1	1	0	2	1	1	0	3	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr11:78383335C>T	uc001ozl.4	-	30	5999	c.5536G>A	c.(5536-5538)Gta>Ata	p.V1846I	ODZ4_uc001ozk.4_Missense_Mutation_p.V71I	NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1846					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						GTGCGTGTTACGCGATCAAAG	0.512													T	78383335	C	T	78383335	3	4	133	1	0	0	0	0	1	0	0	0	10913	536	19	1	2789	1	ODZ4	11	78383335	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	5309707	78383335	56623181	60	9006											
PZP	5858	broad.mit.edu	37	chr12	9346769	9346769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattggagtaataattggcGtcattcacagagatgaagaa	15	10	11	5	1	2	3	2	1	0	2	2	5	2	4	0	2	0	2	0	2	4	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:9346769G>A	uc001qvl.3	-	10	1187	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	PZP_uc009zgl.3_Silent_p.D255D	NM_002864	NP_002855			Homo sapiens pregnancy-zone protein (PZP), mRNA.											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						AATAATTGGCGTCATTCACAG	0.408													A	9346769	G	A	9346769	2	1	133	1	0	0	0	0	0	0	0	1	12957	1136	40	1		1	PZP	12	9346769	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		9346769	124505126	61	9007											
NR1H4	9971	broad.mit.edu	37	chr12	100897268	100897268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatgagtatgaagcccGcgaaaggtaggacactgttc	14	8	12	7	2	0	3	0	3	0	0	1	5	0	4	1	2	1	3	1	2	5	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:100897268G>A	uc001tht.2	+	0	131	c.103G>A	c.(103-105)Gcg>Acg	p.A35T	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.A35T	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	35					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.G35G(1)		NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TATGAAGCCCGCGAAAGGTAG	0.463													A	100897268	G	A	100897268	3	1	133	1	0	0	0	0	1	0	0	0	10695	1102	38	1		1	NR1H4	12	100897268	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	91550499	100897268	32954627	62	9008											
RBM19	9904	broad.mit.edu	37	chr12	114377904	114377904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcctgcagctgggccGccagggtgcctgccgggagg	4	6	18	13	2	1	0	0	0	1	0	2	1	1	1	5	5	4	2	5	5	0	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr12:114377904G>A	uc009zwi.2	-	14	1943	c.1799C>T	c.(1798-1800)gCg>gTg	p.A600V	RBM19_uc001tvn.4_Missense_Mutation_p.A600V|RBM19_uc001tvm.3_Missense_Mutation_p.A600V	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	600	RRM 4.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CAGCTGGGCCGCCAGGGTGCC	0.627													A	114377904	G	A	114377904	3	1	133	1	0	0	0	0	1	0	0	0	13209	1087	38	1	1123	1	RBM19	12	114377904	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	13480636	114377904	19473991	63	9009											
CKAP2	26586	broad.mit.edu	37	chr13	53029668	53029668	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcgctaaagcggagaCgcatcccccgacccgaggct	8	6	12	15	5	1	1	0	0	1	1	2	4	2	1	3	3	1	3	3	3	2	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr13:53029668C>T	uc001vgv.2	+	0					CKAP2_uc001vgt.2_5'UTR|CKAP2_uc001vgu.2_5'UTR|CKAP2_uc010tha.1_5'Flank	NM_001098525	NP_001091995	Q8WWK9	CKAP2_HUMAN	Homo sapiens cytoskeleton associated protein 2 (CKAP2), transcript variant 2, mRNA.						apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAAGCGGAGACGCATCCCCCG	0.672													T	53029668	C	T	53029668	1	4	133	1	0	0	0	0	0	0	0	0	3473	551	19	1		1	CKAP2	13	53029668	Translation_Start_Site	SNP	C	TCGA-14-0817-01A-01W-0424-08		53029668	62140210	64	9010											
SLC7A8	23428	broad.mit.edu	37	chr14	23600746	23600746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgggaaggtggccctctCgggctccagcgaagaacagc	9	5	14	13	2	1	1	0	0	1	1	3	3	2	2	2	4	3	1	2	4	3	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:23600746C>T	uc001wiz.3	-	7	1763	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SLC7A8_uc001wiw.3_5'Flank|SLC7A8_uc001wix.3_Missense_Mutation_p.R143Q|SLC7A8_uc010tnk.2_Missense_Mutation_p.R122Q|SLC7A8_uc010tnl.2_Missense_Mutation_p.R241Q|SLC7A8_uc001wiy.3_Non-coding_Transcript|SLC7A8_uc010akj.3_Intron	NM_012244	NP_877392	Q9UHI5	LAT2_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, L system), member 8 (SLC7A8), transcript variant 1, mRNA.	346					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	GTGGCCCTCTCGGGCTCCAGC	0.592													T	23600746	C	T	23600746	3	4	133	1	0	0	0	0	1	0	0	0	14798	884	31	1	586	1	SLC7A8	14	23600746	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08		23600746	83748794	65	9011											
SPTB	6710	broad.mit.edu	37	chr14	65261276	65261276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttccatcaacttgtgcttCtgtagcaggtcttcaacctc	7	14	7	13	0	4	0	2	0	2	0	6	0	5	0	2	1	4	4	2	1	3	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:65261276C>T	uc001xht.3	-	11	1755	c.1704G>A	c.(1702-1704)caG>caA	p.Q568Q	SPTB_uc001xhr.3_Silent_p.Q568Q|SPTB_uc001xhs.3_Silent_p.Q568Q|SPTB_uc001xhu.3_Silent_p.Q568Q	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	568					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		ACTTGTGCTTCTGTAGCAGGT	0.522													T	65261276	C	T	65261276	2	4	133	1	0	0	0	0	0	0	0	1	15214	912	32	2		2	SPTB	14	65261276	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	41660530	65261276	42088264	66	9012											
EXD2	55218	broad.mit.edu	37	chr14	69702870	69702870	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggacaaaggcattggtgGtatgagattcagctgtcctt	9	12	12	8	0	1	1	1	1	0	1	2	3	2	2	2	4	1	3	2	4	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr14:69702870G>T	uc001xky.3	+	7	1402	c.1156_splice	c.e7+1	p.E386_splice	EXD2_uc001xkt.3_Splice_Site_p.E261_splice|EXD2_uc001xkv.3_Splice_Site_p.E386_splice|EXD2_uc001xkw.3_Splice_Site_p.E261_splice|EXD2_uc001xku.3_Splice_Site_p.E131_splice|EXD2_uc001xkx.3_Splice_Site_p.E261_splice|EXD2_uc010aqt.3_Splice_Site_p.E386_splice|EXD2_uc010tte.2_Splice_Site_p.E386_splice	NM_001193360	NP_060669	Q9NVH0	EXD2_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 2 (EXD2), transcript variant 1, mRNA.	261					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|urinary_tract(1)	14						GGCATTGGTGGTATGAGATTC	0.478													T	69702870	G	T	69702870	5	4	133	1	0	0	0	0	0	0	1	0	5339	1275	44	4	796	4	EXD2	14	69702870	Splice_Site	SNP	G	TCGA-14-0817-01A-01W-0424-08	4441594	69702870	37646670	67	9013											
CAPN3	825	broad.mit.edu	37	chr15	42700426	42700426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcccatcatcttcgtttcGgacagagcaaacagcaacaa	14	7	7	13	2	2	1	1	0	1	1	4	2	2	2	1	1	5	3	1	1	3	2	rs28364528	byFrequency	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:42700426G>A	uc001zpn.1	+	15	2124	c.1818G>A	c.(1816-1818)tcG>tcA	p.S606S	CAPN3_uc001zpk.1_Silent_p.S373S|CAPN3_uc001zpl.1_Silent_p.S513S|CAPN3_uc010udf.1_Silent_p.S519S|CAPN3_uc010udg.1_Silent_p.S471S|CAPN3_uc001zpo.1_Silent_p.S600S|CAPN3_uc001zpp.1_Intron|CAPN3_uc001zpq.1_Silent_p.S94S|CAPN3_uc010bcv.1_Intron|CAPN3_uc001zpr.1_5'UTR|CAPN3_uc001zps.1_Intron|CAPN3_uc001zpt.1_Intron	NM_000070	NP_000061	P20807	CAN3_HUMAN	Homo sapiens calpain 3, (p94) (CAPN3), transcript variant 1, mRNA.	606	Linker.		S -> L (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TCTTCGTTTCGGACAGAGCAA	0.552													A	42700426	G	A	42700426	2	1	133	1	0	0	0	0	0	0	0	1	2654	1103	39	1		1	CAPN3	15	42700426	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		42700426	59830966	68	9014											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954655	72954655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaacagctacaagatgagGccaaacacctgaggcaggag	15	4	13	9	0	0	3	0	2	0	1	0	5	0	5	2	4	4	2	2	4	4	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:72954655G>A	uc010uks.1	+	10	951	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	304										NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						ACAAGATGAGGCCAAACACCT	0.542													A	72954655	G	A	72954655	3	1	133	1	0	0	0	0	1	0	0	0	6614	1203	42	2	952	2	GOLGA6B	15	72954655	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	30254229	72954655	29576737	69	9015											
ACAN	176	broad.mit.edu	37	chr15	89391161	89391161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataccccattgtgagccccCggaccccatgcgtgggtgac	7	7	12	15	2	0	2	0	2	0	0	0	4	0	3	6	2	3	0	6	2	1	2	rs143697605	by1000genomes	TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89391161C>T	uc010upo.1	+	8	1998	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	ACAN_uc002bmx.3_Missense_Mutation_p.R542W|ACAN_uc010upp.1_Missense_Mutation_p.R542W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	542					cell adhesion		hyaluronic acid binding|sugar binding	p.R542W(2)|p.P541P(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGTGAGCCCCCGGACCCCATG	0.607													T	89391161	C	T	89391161	3	4	133	1	0	0	0	0	1	0	0	0	117	643	23	1	1654	1	ACAN	15	89391161	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	16436506	89391161	13140231	70	9016											
ACAN	176	broad.mit.edu	37	chr15	89401858	89401858	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgccagcaccaccaatgtAagtggagaatcctctgtagc	11	10	9	11	0	1	1	0	0	1	1	2	2	2	1	4	1	3	3	4	1	4	3			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr15:89401858A>G	uc010upo.1	+	11	6416	c.6042A>G	c.(6040-6042)gtA>gtG	p.V2014V	ACAN_uc010upp.1_Silent_p.V2014V|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	2014					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCACCAATGTAAGTGGAGAAT	0.522													G	89401858	A	G	89401858	2	3	133	1	0	0	0	0	0	0	0	1	117	349	13	3		3	ACAN	15	89401858	Silent	SNP	A	TCGA-14-0817-01A-01W-0424-08	10697	89401858	13129534	71	9017											
TP53	7157	broad.mit.edu	37	chr17	7578264	7578268	+	Frame_Shift_Del	DEL	GATAA	GATAA	-																															cgcaaatttccttccactcgGataagatgctgaggaggggc																										TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:7578264_7578268delGATAA	uc002gim.2	-	5	775_779	c.581_585delTTATC	c.(580-585)cttatcfs	p.L194fs	TP53_uc002gig.1_Frame_Shift_Del_p.L194fs|TP53_uc002gih.3_Frame_Shift_Del_p.L194fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.L62fs|TP53_uc010cnf.1_Frame_Shift_Del_p.L62fs|TP53_uc002gii.1_Frame_Shift_Del_p.L62fs|TP53_uc010cni.1_Frame_Shift_Del_p.L194fs|TP53_uc010cnh.1_Frame_Shift_Del_p.L194fs|TP53_uc002gij.2_Frame_Shift_Del_p.L194fs|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Frame_Shift_Del_p.L101fs|TP53_uc002gio.2_Frame_Shift_Del_p.L62fs|TP53_uc010vug.2_Frame_Shift_Del_p.L155fs|DL476358_uc021tph.1_3'UTR	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.I195T(136)|p.L194R(84)|p.H193R(72)|p.I195F(38)|p.H193L(35)|p.H193Y(27)|p.I195N(24)|p.L194F(18)|p.L194P(16)|p.I195S(16)|p.H193P(14)|p.L194H(14)|p.I195fs*14(10)|p.H193D(9)|p.I195fs*52(9)|p.L194L(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.R196*(7)|p.?(6)|p.L101R(5)|p.L62R(5)|p.P191_E198>Q(4)|p.I195M(4)|p.H193N(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.P191fs*53(2)|p.L194fs*14(2)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.I102T(2)|p.H193H(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.I195L(2)|p.L194fs*52(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.I102fs*52(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.L101H(1)|p.I63fs*14(1)|p.I102M(1)|p.I102F(1)|p.I63F(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.I63fs*>28(1)|p.L62H(1)|p.L194I(1)|p.I63M(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)		CTTCCACTCGGATAAGATGCTGAGG	0.551		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)			-	7578268	GATAA	-	7578264	7	5	133	1	0	1	0	1	0	0	0	0	16482	1164	41	0	709	0	TP53	17	7578264	Frame_Shift_Del	DEL	GATAA	TCGA-14-0817-01A-01W-0424-08		7578264	73616946	72	9018											
MYH2	4620	broad.mit.edu	37	chr17	10447064	10447064	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattcctcacggtcttggcGttgccaaaggcctccagtag	7	11	10	13	2	3	0	2	0	1	0	5	0	5	0	4	3	1	2	4	3	2	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:10447064G>A	uc010coi.3	-	7	833	c.705C>T	c.(703-705)aaC>aaT	p.N235N	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.N235N|MYH2_uc010coj.3_Silent_p.N235N	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	235	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGGTCTTGGCGTTGCCAAAGG	0.478													A	10447064	G	A	10447064	2	1	133	1	0	0	0	0	0	0	0	1	10111	1136	40	1		1	MYH2	17	10447064	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08	2868800	10447064	70748146	73	9019											
HOXB3	3213	broad.mit.edu	37	chr17	46628102	46628102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgcgtaggcattctggtggGctttaccgaaggcgggtggg	5	9	19	8	4	1	0	0	0	1	0	1	1	1	0	1	6	1	3	1	6	3	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr17:46628102G>A	uc002inn.3	-	1	1290	c.890C>T	c.(889-891)gCc>gTc	p.A297V	HOXB3_uc010wlm.2_Missense_Mutation_p.A224V|HOXB3_uc010dbf.3_Missense_Mutation_p.A297V|HOXB3_uc010dbg.3_Missense_Mutation_p.A297V|HOXB3_uc002ino.3_Missense_Mutation_p.A297V|HOXB3_uc010wlk.2_Missense_Mutation_p.A165V|HOXB3_uc010wll.2_Missense_Mutation_p.A224V	NM_002146	NP_002137	P14651	HXB3_HUMAN	Homo sapiens homeobox B3 (HOXB3), mRNA.	297					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						ATTCTGGTGGGCTTTACCGAA	0.672											OREG0024516	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46628102	G	A	46628102	3	1	133	1	0	0	0	0	1	0	0	0	7357	1203	42	2	409	2	HOXB3	17	46628102	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	36181038	46628102	34567108	74	9020											
EPB41L3	23136	broad.mit.edu	37	chr18	5428401	5428401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgtttattcgcagccGgtcgcgatatatcaacagac	12	11	8	10	4	2	1	1	0	1	1	4	2	2	1	1	1	2	2	1	1	5	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:5428401G>A	uc002kmt.1	-	8	1062	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	EPB41L3_uc010wzh.1_Missense_Mutation_p.R326W|EPB41L3_uc002kmu.1_Missense_Mutation_p.R326W|EPB41L3_uc010dkq.1_Missense_Mutation_p.R217W|EPB41L3_uc010dks.1_Missense_Mutation_p.R348W	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	326	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.R326R(2)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						ATTCGCAGCCGGTCGCGATAT	0.418													A	5428401	G	A	5428401	3	1	133	1	0	0	0	0	1	0	0	0	5195	1115	39	1	2343	1	EPB41L3	18	5428401	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		5428401	72648847	75	9021											
DSG3	1830	broad.mit.edu	37	chr18	29038467	29038467	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctctggagtgggaatCgatcagccgccttttggaat	9	11	12	9	3	2	0	1	0	1	0	4	5	2	3	2	3	1	0	2	3	3	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr18:29038467C>A	uc002kws.3	+	3	385	c.276C>A	c.(274-276)atC>atA	p.I92I		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	92	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GAGTGGGAATCGATCAGCCGC	0.438													A	29038467	C	A	29038467	2	1	133	1	0	0	0	0	0	0	0	1	4817	874	31	4		4	DSG3	18	29038467	Silent	SNP	C	TCGA-14-0817-01A-01W-0424-08	23610066	29038467	49038781	76	9022											
QTRT1	81890	broad.mit.edu	37	chr19	10823297	10823297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactgcgtcttccccacacGgacagcggtgaggctctggc	6	7	13	15	4	2	1	0	1	2	0	3	3	3	2	2	4	2	1	2	4	0	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr19:10823297G>A	uc002mpr.3	+	6	879	c.854G>A	c.(853-855)cGg>cAg	p.R285Q	DNM2_uc010dxk.2_5'Flank	NM_031209	NP_112486	Q9BXR0	TGT_HUMAN	Homo sapiens queuine tRNA-ribosyltransferase 1 (QTRT1), mRNA.	285					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TTCCCCACACGGACAGCGGTG	0.632													A	10823297	G	A	10823297	3	1	133	1	0	0	0	0	1	0	0	0	12973	1116	39	1	880	1	QTRT1	19	10823297	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		10823297	48305686	77	9023											
PLCB4	5332	broad.mit.edu	37	chr20	9370528	9370528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttgtttttaaaggaTgtaattcaagccatcaagga	12	18	7	4	0	2	0	2	0	0	0	2	2	2	2	1	2	1	2	1	2	5	9			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:9370528T>C	uc021wam.1	+	12	1176	c.1161T>C	c.(1159-1161)gaT>gaC	p.D387D	PLCB4_uc010gbw.1_Silent_p.D387D|PLCB4_uc010gbx.3_Silent_p.D387D|PLCB4_uc021wal.1_Silent_p.D387D|PLCB4_uc002wnh.3_Silent_p.D234D	NM_000933	NP_000924	Q15147	PLCB4_HUMAN	Homo sapiens phospholipase C, beta 4 (PLCB4), transcript variant 1, mRNA.	387	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTTAAAGGATGTAATTCAAG	0.333													C	9370528	T	C	9370528	2	2	133	1	0	0	0	0	0	0	0	1	12107	1461	51	3		3	PLCB4	20	9370528	Silent	SNP	T	TCGA-14-0817-01A-01W-0424-08		9370528	53654992	78	9024											
WFDC3	140686	broad.mit.edu	37	chr20	44417585	44417585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacccttaggaatgtctcGgcagatccgaccacagcctg	10	8	9	14	2	1	1	0	0	1	1	3	3	2	2	4	2	2	1	4	2	3	2			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:44417585G>A	uc002xpf.1	-	2	280	c.196C>T	c.(196-198)Cga>Tga	p.R66*	DNTTIP1_uc002xpk.3_5'Flank|WFDC3_uc002xpj.1_Non-coding_Transcript|WFDC3_uc002xph.1_Non-coding_Transcript|WFDC3_uc010ghh.1_Intron	NM_080614	NP_542181	Q8IUB2	WFDC3_HUMAN	Homo sapiens WAP four-disulfide core domain 3 (WFDC3), mRNA.	66	WAP 1.					extracellular region	serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(3)|prostate(1)	5		Myeloproliferative disorder(115;0.0122)				GGAATGTCTCGGCAGATCCGA	0.527													A	44417585	G	A	44417585	4	1	133	1	0	0	0	0	0	1	0	0	17455	1124	39	1	519	1	WFDC3	20	44417585	Nonsense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	35047057	44417585	18607935	79	9025											
ZBP1	81030	broad.mit.edu	37	chr20	56191402	56191402	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactttcaactccttttTcattcggtagaggacttggt	8	15	10	8	1	2	2	2	0	0	2	4	4	3	3	1	4	1	1	1	4	2	6			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr20:56191402T>G	uc002xyo.3	-	1	438	c.157A>C	c.(157-159)Aaa>Caa	p.K53Q	ZBP1_uc010gjm.3_Missense_Mutation_p.K53Q|ZBP1_uc002xyp.3_Intron|ZBP1_uc010zzn.2_Missense_Mutation_p.K53Q	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	53			K -> R (in dbSNP:rs35895307).			cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			AACTCCTTTTTCATTCGGTAG	0.597													G	56191402	T	G	56191402	3	3	133	1	0	0	0	0	1	0	0	0	17622	1792	62	5	1237	5	ZBP1	20	56191402	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08	11773817	56191402	6834118	80	9026											
RIPK4	54101	broad.mit.edu	37	chr21	43161460	43161460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccagcaggctgcagacGttgacgtcggagcacaggtc	8	7	15	11	3	0	2	0	1	0	1	2	3	0	3	1	3	4	5	1	3	0	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr21:43161460G>A	uc002yzn.1	-	7	1941	c.1893C>T	c.(1891-1893)aaC>aaT	p.N631N		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	631						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697													A	43161460	G	A	43161460	2	1	133	1	0	0	0	0	0	0	0	1	13474	1136	40	1		1	RIPK4	21	43161460	Silent	SNP	G	TCGA-14-0817-01A-01W-0424-08		43161460	4968435	81	9027											
MCM5	4174	broad.mit.edu	37	chr22	35796511	35796511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgacgaggggcaggcccGcaaatcgcagctgcagaggc	9	2	17	13	4	0	1	0	0	0	1	1	3	0	1	2	5	2	5	2	5	1	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:35796511G>A	uc003anu.4	+	1	174	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MCM5_uc003anv.4_Missense_Mutation_p.R27H	NM_006739	NP_006730	P33992	MCM5_HUMAN	Homo sapiens minichromosome maintenance complex component 5 (MCM5), mRNA.	27					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGGCAGGCCCGCAAATCGCAG	0.647													A	35796511	G	A	35796511	3	1	133	1	0	0	0	0	1	0	0	0	9465	1087	38	1	82	1	MCM5	22	35796511	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08		35796511	15508055	82	9028											
APOBEC3H	164668	broad.mit.edu	37	chr22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggaccacgagaaacCgctttccttcaacccctata	10	11	6	14	2	1	1	1	0	0	1	2	3	2	2	5	1	2	1	5	1	4	5			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:39497965C>T	uc021wpt.1	+	3	588	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_uc021wps.1_Intron|APOBEC3H_uc021wpu.1_Missense_Mutation_p.P154L|APOBEC3H_uc021wpv.1_Missense_Mutation_p.P154L	NM_001166003	NP_001159475	Q6NTF7	ABC3H_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H (APOBEC3H), transcript variant 1, mRNA.	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537													T	39497965	C	T	39497965	3	4	133	1	0	0	0	0	1	0	0	0	798	652	23	1	471	1	APOBEC3H	22	39497965	Missense_Mutation	SNP	C	TCGA-14-0817-01A-01W-0424-08	3701454	39497965	11806601	83	9029											
CENPM	79019	broad.mit.edu	37	chr22	42342475	42342475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtccgccagctgctgcAgaagagcatcctccgtgccc	7	7	11	16	3	0	2	0	0	0	2	4	3	3	2	5	0	5	4	5	0	1	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chr22:42342475A>G	uc003bbn.3	-	1	151	c.83T>C	c.(82-84)cTg>cCg	p.L28P	bK250D10.C22.8_uc003bba.1_Intron|CENPM_uc003bbo.3_Missense_Mutation_p.L28P|CENPM_uc003bbp.1_Missense_Mutation_p.L28P	NM_024053	NP_076958	Q9NSP4	CENPM_HUMAN	Homo sapiens centromere protein M (CENPM), transcript variant 1, mRNA.	28					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						CAGCTGCTGCAGAAGAGCATC	0.662											OREG0026600	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	42342475	A	G	42342475	3	3	133	1	0	0	0	0	1	0	0	0	3267	188	7	3	519	3	CENPM	22	42342475	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08	2844510	42342475	8962091	84	9030											
PHEX	5251	broad.mit.edu	37	chrX	22151701	22151701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctagagaaagaaaatgAgtggatggatgcaggaacga	17	6	14	4	1	0	3	0	1	0	2	0	8	0	6	0	3	3	2	0	3	5	1			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:22151701A>T	uc004dah.3	+	11	1567	c.1364A>T	c.(1363-1365)gAg>gTg	p.E455V	PHEX_uc011mjr.2_Missense_Mutation_p.E455V|PHEX_uc011mjs.2_Missense_Mutation_p.E358V	NM_000444	NP_000435	P78562	PHEX_HUMAN	Homo sapiens phosphate regulating endopeptidase homolog, X-linked (PHEX), mRNA.	455					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						AAAGAAAATGAGTGGATGGAT	0.403													T	22151701	A	T	22151701	3	4	133	1	0	0	0	0	1	0	0	0	11896	304	11	5	1410	5	PHEX	23	22151701	Missense_Mutation	SNP	A	TCGA-14-0817-01A-01W-0424-08		22151701	133118859	85	9031											
GLUD2	2747	broad.mit.edu	37	chrX	120183085	120183085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggcatacacaatggagcGttctgccaggcaaattatgc	11	10	10	10	1	1	0	0	0	1	0	1	1	1	1	1	3	4	3	1	3	4	4			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:120183085G>A	uc004eto.3	+	0	1624	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	516					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	ACAATGGAGCGTTCTGCCAGG	0.468													A	120183085	G	A	120183085	3	1	133	1	0	0	0	0	1	0	0	0	6533	1145	40	1	1549	1	GLUD2	23	120183085	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	98031384	120183085	35087475	86	9032											
ENOX2	10495	broad.mit.edu	37	chrX	129759413	129759413	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacactccacatcgctggTgcagatctgtgggacagaga	11	7	13	10	1	1	3	0	0	1	3	3	6	2	4	1	2	1	2	1	2	0	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:129759413T>G	uc004evw.3	-	15	2126	c.1708A>C	c.(1708-1710)Acc>Ccc	p.T570P	ENOX2_uc004evx.3_Missense_Mutation_p.T541P|ENOX2_uc004evy.3_Missense_Mutation_p.T541P|ENOX2_uc004evv.3_Missense_Mutation_p.T395P	NM_182314	NP_006366	Q16206	ENOX2_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 2 (ENOX2), transcript variant 2, mRNA.	570					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ACATCGCTGGTGCAGATCTGT	0.463													G	129759413	T	G	129759413	3	3	133	1	0	0	0	0	1	0	0	0	5168	1696	59	5	128	5	ENOX2	23	129759413	Missense_Mutation	SNP	T	TCGA-14-0817-01A-01W-0424-08	9576328	129759413	25511147	87	9033											
SLITRK2	84631	broad.mit.edu	37	chrX	144903994	144903997	+	Frame_Shift_Del	DEL	ACAG	ACAG	-																															ttaaccgtggccgggatcttAcagacagagagtcgcaaaac																										TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:144903994_144903997delACAG	uc022cfn.1	+	0	51_54	c.51_54delACAG	c.(49-54)ttacagfs	p.L17fs	SLITRK2_uc004fcd.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nsp.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc010nso.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwq.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwr.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mws.2_Frame_Shift_Del_p.L17fs|SLITRK2_uc004fcg.3_Frame_Shift_Del_p.L17fs|SLITRK2_uc011mwt.2_Frame_Shift_Del_p.L17fs	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	17						integral to membrane		p.Q18Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					CCGGGATCTTACAGACAGAGAGTC	0.471													-	144903997	ACAG	-	144903994	7	5	133	1	0	1	0	1	0	0	0	0	14837	388	14	0	53	0	SLITRK2	23	144903994	Frame_Shift_Del	DEL	ACAG	TCGA-14-0817-01A-01W-0424-08	15144581	144903994	10366566	88	9034											
L1CAM	3897	broad.mit.edu	37	chrX	153137805	153137805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaccatccctcgtccagcGgaacctgtgggcggaaaaag	11	5	12	13	3	0	0	0	0	0	0	3	3	2	2	4	3	2	0	4	3	3	0			TCGA-14-0817-01A-01W-0424-08	TCGA-14-0817-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a5f06dfc-e9b2-46a6-bee5-604d2839baad	718c8867-1636-4bdd-8838-459ea6e73080	g.chrX:153137805G>A	uc004fjb.3	-	3	310	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	L1CAM_uc004fjc.3_Missense_Mutation_p.R68C|L1CAM_uc010nuo.3_Missense_Mutation_p.R63C|L1CAM_uc004fjd.1_5'Flank|L1CAM_uc022chz.1_Missense_Mutation_p.R63C	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	68	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCGTCCAGCGGAACCTGTGG	0.637													A	153137805	G	A	153137805	3	1	133	1	0	0	0	0	1	0	0	0	8647	1116	39	1	3671	1	L1CAM	23	153137805	Missense_Mutation	SNP	G	TCGA-14-0817-01A-01W-0424-08	8233811	153137805	2132755	89	9035											
FLG2	388698	broad.mit.edu	37	chr1	152326384	152326384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagatccagcttgtgtgTgaatgtgttctgaatgtctg	8	15	13	5	0	2	3	0	3	2	1	3	4	3	3	1	0	1	2	1	0	2	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:152326384T>C	uc001ezw.4	-	2	3951	c.3878A>G	c.(3877-3879)cAc>cGc	p.H1293R	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1293							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGTGTGTGAATGTGTTC	0.473													C	152326384	T	C	152326384	3	2	134	1	0	0	0	0	1	0	0	0	5972	1696	59	3	3301	3	FLG2	1	152326384	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		152326384	96924237	1	9036											
HHIPL2	79802	broad.mit.edu	37	chr1	222717002	222717002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagaacttgcgattgtggCggaatttggggtgaaaagcc	11	11	14	5	2	0	2	0	1	0	1	0	4	0	3	1	4	3	0	1	4	6	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr1:222717002C>T	uc001hnh.1	-	1	909	c.851G>A	c.(850-852)cGc>cAc	p.R284H		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	284					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding	p.R284H(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCGATTGTGGCGGAATTTGGG	0.483													T	222717002	C	T	222717002	3	4	134	1	0	0	0	0	1	0	0	0	7149	768	27	1	1355	1	HHIPL2	1	222717002	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	70390618	222717002	26533619	2	9037											
PELI1	57162	broad.mit.edu	37	chr2	64323378	64323378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccattgcgtggatgcaTcacaagaacaccattagtgg	13	8	10	10	1	1	1	1	0	0	1	1	3	1	2	2	2	4	1	2	2	4	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:64323378T>C	uc002scs.4	-	4	4610	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PELI1_uc002sct.4_Missense_Mutation_p.M191V|PELI1_uc002scr.4_Missense_Mutation_p.M12V	NM_020651	NP_065702	Q96FA3	PELI1_HUMAN	Homo sapiens pellino homolog 1 (Drosophila) (PELI1), mRNA.	191					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	19						CGTGGATGCATCACAAGAACA	0.458													C	64323378	T	C	64323378	3	2	134	1	0	0	0	0	1	0	0	0	11797	1435	50	3	693	3	PELI1	2	64323378	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		64323378	178875995	3	9038											
ARHGAP25	9938	broad.mit.edu	37	chr2	69053291	69053291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaagtcaaggaatttGtcaaatccatgaaggaaccc	18	7	9	7	0	2	3	2	1	0	2	3	5	3	5	2	2	1	0	2	2	8	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:69053291G>A	uc010fdg.3	+	10	2325	c.1906G>A	c.(1906-1908)Gtc>Atc	p.V636I	ARHGAP25_uc010yql.2_Missense_Mutation_p.V596I|ARHGAP25_uc002sew.3_Missense_Mutation_p.V628I|ARHGAP25_uc002sex.3_Missense_Mutation_p.V629I	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	635					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						CAAGGAATTTGTCAAATCCAT	0.552													A	69053291	G	A	69053291	3	1	134	1	0	0	0	0	1	0	0	0	877	1377	48	2	1988	2	ARHGAP25	2	69053291	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	4729913	69053291	174146082	4	9039											
YSK4	80122	broad.mit.edu	37	chr2	135738921	135738921	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacagtgttctcttgcaaGcatgtccccaaataggccac	10	10	7	14	0	2	0	1	0	1	0	4	0	3	0	3	1	2	3	3	1	3	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:135738921G>T	uc002tue.1	-	8	3421	c.3390C>A	c.(3388-3390)tgC>tgA	p.C1130*	YSK4_uc002tuf.1_Nonsense_Mutation_p.C312*|YSK4_uc010fnc.1_Nonsense_Mutation_p.C264*|YSK4_uc010fnd.1_Nonsense_Mutation_p.C1017*|YSK4_uc010zbg.1_Nonsense_Mutation_p.C262*|YSK4_uc021vpz.1_5'UTR|YSK4_uc002tuh.4_Nonsense_Mutation_p.C858*|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1130	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCTCTTGCAAGCATGTCCCCA	0.418													T	135738921	G	T	135738921	4	4	134	1	0	0	0	0	0	1	0	0	17597	963	34	4	604	4	YSK4	2	135738921	Nonsense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	66685630	135738921	107460452	5	9040											
SAG	6295	broad.mit.edu	37	chr2	234237130	234237130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttcccacaggagctcCgtgcgattactgatccgcaa	8	10	10	13	3	0	1	0	1	0	0	3	3	3	2	3	1	3	4	3	1	2	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr2:234237130C>T	uc002vuh.2	+	7	907	c.519C>T	c.(517-519)tcC>tcT	p.S173S	SAG_uc010zmq.1_Silent_p.S39S	NM_000541	NP_000532	P10523	ARRS_HUMAN	Homo sapiens S-antigen; retina and pineal gland (arrestin) (SAG), mRNA.	173					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		ACAGGAGCTCCGTGCGATTAC	0.592													T	234237130	C	T	234237130	2	4	134	1	0	0	0	0	0	0	0	1	13899	639	23	1		1	SAG	2	234237130	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	98498209	234237130	8962243	6	9041											
NEK4	6787	broad.mit.edu	37	chr3	52780805	52780807	+	In_Frame_Del	DEL	CTC	CTC	-																															ctctgtgctcagtctgttctCtcctcttttgccgtcgctgt																										TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:52780805_52780807delCTC	uc003dfq.4	-	8	1823_1825	c.1620_1622delGAG	c.(1618-1623)aggaga>aga	p.540_541RR>R	NEK4_uc011bej.2_In_Frame_Del_p.451_452RR>R|NEK4_uc003dfr.3_In_Frame_Del_p.494_495RR>R	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	540					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		AGTCTGTTCTCTCCTCTTTTGCC	0.483													-	52780807	CTC	-	52780805	7	5	134	1	0	1	0	1	0	0	0	0	10402	913	32	0	935	0	NEK4	3	52780805	In_Frame_Del	DEL	CTC	TCGA-14-0862-01B-01D-1845-08		52780805	145241625	7	9042											
PRKCD	5580	broad.mit.edu	37	chr3	53222823	53222823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcaaagagaacatattcggGgagagccgggccagcacctt	12	6	13	10	2	0	2	0	0	0	2	1	4	0	2	3	3	4	2	3	3	3	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:53222823G>A	uc003dgl.3	+	15	1856	c.1503G>A	c.(1501-1503)ggG>ggA	p.G501G	PRKCD_uc003dgm.3_Silent_p.G501G	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	501	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		ACATATTCGGGGAGAGCCGGG	0.602													A	53222823	G	A	53222823	2	1	134	1	0	0	0	0	0	0	0	1	12595	1219	43	2		2	PRKCD	3	53222823	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08	442018	53222823	144799607	8	9043											
HHLA2	11148	broad.mit.edu	37	chr3	108076824	108076824	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttctctgtcctggcttaCtatctgagctcctcacaaaa	9	14	5	13	0	3	1	1	1	2	0	6	1	5	1	2	1	2	2	2	1	4	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr3:108076824C>T	uc003dwz.3	+	5	1233	c.819C>T	c.(817-819)taC>taT	p.Y273Y	HHLA2_uc011bhl.2_Silent_p.Y209Y|HHLA2_uc010hpu.3_Silent_p.Y273Y|HHLA2_uc003dwy.4_Silent_p.Y273Y	NM_007072	NP_009003	Q9UM44	HHLA2_HUMAN	Homo sapiens HERV-H LTR-associating 2 (HHLA2), mRNA.	273	Ig-like V-type 2.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCCTGGCTTACTATCTGAGCT	0.383													T	108076824	C	T	108076824	2	4	134	1	0	0	0	0	0	0	0	1	7150	576	20	2		2	HHLA2	3	108076824	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	54854001	108076824	89945606	9	9044											
PKD2	5311	broad.mit.edu	37	chr4	88973174	88973174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctataggaattaacatatAcagaacatcaaatgtggagg	18	9	9	5	0	1	1	1	0	0	1	1	3	1	3	0	3	4	1	0	3	8	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:88973174A>G	uc003hre.3	+	6	1667	c.1580A>G	c.(1579-1581)tAc>tGc	p.Y527C	PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	527						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		ATTAACATATACAGAACATCA	0.328													G	88973174	A	G	88973174	3	3	134	1	0	0	0	0	1	0	0	0	12043	391	14	3	1606	3	PKD2	4	88973174	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		88973174	102181102	10	9045											
POU4F2	5458	broad.mit.edu	37	chr4	147561831	147561831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctactttgccattcaGcctcggccctcctctgaaaa	9	10	7	15	1	2	1	1	1	1	0	4	2	3	1	5	1	4	0	5	1	4	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:147561831G>T	uc003ikv.3	+	1	1349	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	367					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					TTGCCATTCAGCCTCGGCCCT	0.582													T	147561831	G	T	147561831	3	4	134	1	0	0	0	0	1	0	0	0	12356	962	34	4	1107	4	POU4F2	4	147561831	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	58588657	147561831	43592445	11	9046											
TLR2	7097	broad.mit.edu	37	chr4	154624496	154624496	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggaaacatctcttttttCtcatctcacaaaattgcaaa	14	13	5	9	0	3	0	2	0	3	0	6	1	3	1	0	2	2	1	0	2	4	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr4:154624496C>G	uc003inq.3	+	2	656	c.437C>G	c.(436-438)tCt>tGt	p.S146C	TLR2_uc003inr.3_Missense_Mutation_p.S146C|TLR2_uc003ins.3_Missense_Mutation_p.S146C|TLR2_uc021xtl.1_Missense_Mutation_p.S146C	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	146					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.S146C(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TCTCTTTTTTCTCATCTCACA	0.373													G	154624496	C	G	154624496	3	3	134	1	0	0	0	0	1	0	0	0	16051	913	32	4	439	4	TLR2	4	154624496	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	7062665	154624496	36529780	12	9047											
PIK3R1	5295	broad.mit.edu	37	chr5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagggggaaataacaaAttaatcaaaatatttcatcg	20	9	8	4	1	2	0	2	0	0	0	3	2	2	2	0	3	1	0	0	3	8	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:67589149A>T	uc003jva.3	+	9	1717	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67589149	A	T	67589149	3	4	134	1	0	0	0	0	1	0	0	0	11995	98	4	5	1301	5	PIK3R1	5	67589149	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		67589149	113326111	13	9048											
CXXC5	51523	broad.mit.edu	37	chr5	139060958	139060958	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcagcagttgtaggaatCgaaagactggccatcagatt	13	9	12	7	1	1	2	1	0	0	2	2	4	1	3	1	2	2	4	1	2	3	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:139060958C>T	uc010jfg.1	+	1	1140	c.850C>T	c.(850-852)Cga>Tga	p.R284*	CXXC5_uc003let.2_Nonsense_Mutation_p.R284*	NM_016463	NP_057547	Q7LFL8	CXXC5_HUMAN	Homo sapiens CXXC finger protein 5 (CXXC5), mRNA.	284					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGTAGGAATCGAAAGACTGG	0.562													T	139060958	C	T	139060958	4	4	134	1	0	0	0	0	0	1	0	0	4132	876	31	1	852	1	CXXC5	5	139060958	Nonsense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	71471809	139060958	41854302	14	9049											
PCDHB12	56124	broad.mit.edu	37	chr5	140590067	140590067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaggggttccagttcCgcgtgggcgccacagaccac	6	6	13	16	3	0	1	0	0	0	1	2	1	2	1	5	3	1	3	5	3	0	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140590067C>T	uc003liz.3	+	0	1777	c.1588C>T	c.(1588-1590)Cgc>Tgc	p.R530C	PCDHB12_uc011dak.2_Missense_Mutation_p.R193C	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	530	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R530H(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTTCCAGTTCCGCGTGGGCGC	0.677													T	140590067	C	T	140590067	3	4	134	1	0	0	0	0	1	0	0	0	11613	652	23	1	1590	1	PCDHB12	5	140590067	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	1529109	140590067	40325193	15	9050											
PCDHGC5	56100	broad.mit.edu	37	chr5	140788951	140788951	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagacattccattcaagatTtattcttcttccaataacta	14	15	2	10	0	3	2	1	0	2	2	5	2	5	2	2	0	1	0	2	0	5	9			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr5:140788951T>G	uc003lkj.2	+	0	1182	c.1182T>G	c.(1180-1182)atT>atG	p.I394M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lki.1_Missense_Mutation_p.I394M	NM_018926	NP_061749	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 6 (PCDHGB6), transcript variant 1, mRNA.	397	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I394M(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATTCAAGATTTATTCTTCTT	0.453													G	140788951	T	G	140788951	3	3	134	1	0	0	0	0	1	0	0	0	11647	1829	64	5		5	PCDHGC5	5	140788951	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08	198884	140788951	40126309	16	9051											
BMP5	653	broad.mit.edu	37	chr6	55739290	55739290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagataactgtatgcgaCgaggatacccattgggagag	12	8	13	8	3	0	2	0	0	0	2	1	7	1	3	2	2	3	1	2	2	3	4	rs148184427		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:55739290C>T	uc003pcq.3	-	0	1086	c.374G>A	c.(373-375)cGt>cAt	p.R125H	BMP5_uc011dxf.2_Missense_Mutation_p.R125H	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	125					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTGTATGCGACGAGGATACCC	0.522													T	55739290	C	T	55739290	3	4	134	1	0	0	0	0	1	0	0	0	1469	536	19	1	1018	1	BMP5	6	55739290	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		55739290	115375777	17	9052											
LAMA2	3908	broad.mit.edu	37	chr6	129687471	129687471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctgcgccatataaaatgCtgtatggtcttgaaaatatg	12	13	9	7	1	1	1	0	1	1	0	1	1	1	1	2	1	3	2	2	1	7	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr6:129687471C>T	uc021zfb.1	+	32	4930	c.4825C>T	c.(4825-4827)Ctg>Ttg	p.L1609L	LAMA2_uc003qbn.3_Silent_p.L1609L|LAMA2_uc003qbo.3_Silent_p.L1609L	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1609	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.M1608T(1)|p.L1609Q(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATATAAAATGCTGTATGGTCT	0.517													T	129687471	C	T	129687471	2	4	134	1	0	0	0	0	0	0	0	1	8665	796	28	2		2	LAMA2	6	129687471	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	73948181	129687471	41427596	18	9053											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914501	147914501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccagcagaactcccacccGgacctggcacaggaggagat	12	3	12	14	1	0	2	0	0	0	2	1	6	1	4	4	4	2	2	4	4	1	0			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr7:147914501G>A	uc003weu.2	+	18	3648	c.3132G>A	c.(3130-3132)ccG>ccA	p.P1044P		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	1044					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.P1044L(2)|p.P1044P(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTCCCACCCGGACCTGGCAC	0.562										HNSCC(39;0.1)			A	147914501	G	A	147914501	2	1	134	1	0	0	0	0	0	0	0	1	3678	1103	39	1		1	CNTNAP2	7	147914501	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		147914501	11224162	19	9054											
ARMC1	55156	broad.mit.edu	37	chr8	66534548	66534548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atacccagttctcctttcatCttttctctgtttgcacggca	6	17	5	13	1	4	0	1	0	3	0	6	0	4	0	2	1	2	4	2	1	1	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr8:66534548C>G	uc003xvl.3	-	2	480	c.225G>C	c.(223-225)aaG>aaC	p.K75N	ARMC1_uc011leo.2_Missense_Mutation_p.D37H	NM_018120	NP_060590	Q9NVT9	ARMC1_HUMAN	Homo sapiens armadillo repeat containing 1 (ARMC1), mRNA.	75					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			CTCCTTTCATCTTTTCTCTGT	0.338													G	66534548	C	G	66534548	3	3	134	1	0	0	0	0	1	0	0	0	954	912	32	4	643	4	ARMC1	8	66534548	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		66534548	79829474	20	9055											
OR1L1	26737	broad.mit.edu	37	chr9	125424624	125424624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctgtcataatgaccccGttttcatgcatcatcatctc	8	15	6	12	1	5	1	4	1	1	0	6	1	5	1	2	1	1	3	2	1	1	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr9:125424624G>A	uc022bmz.1	+	0	630	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_001005236	NP_001005236	Q8NH94	OR1L1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 1 (OR1L1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						TAATGACCCCGTTTTCATGCA	0.413													A	125424624	G	A	125424624	2	1	134	1	0	0	0	0	0	0	0	1	11039	1132	40	1		1	OR1L1	9	125424624	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		125424624	15788807	21	9056											
FEZ1	9638	broad.mit.edu	37	chr11	125359436	125359436	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctaggttctcggtctTggcgttgtagttccgaaagc	6	12	15	8	3	2	0	0	0	2	0	4	2	3	1	1	4	2	5	1	4	3	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr11:125359436T>G	uc001qbx.3	-	1	473	c.238A>C	c.(238-240)Aag>Cag	p.K80Q	FEZ1_uc010sbc.2_Missense_Mutation_p.K80Q|FEZ1_uc001qby.2_Missense_Mutation_p.K80Q|FEZ1_uc021qrv.1_Missense_Mutation_p.K80Q	NM_005103	NP_005094	Q99689	FEZ1_HUMAN	Homo sapiens fasciculation and elongation protein zeta 1 (zygin I) (FEZ1), transcript variant 1, mRNA.	80					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		TTCTCGGTCTTGGCGTTGTAG	0.463													G	125359436	T	G	125359436	3	3	134	1	0	0	0	0	1	0	0	0	5872	1821	63	5	980	5	FEZ1	11	125359436	Missense_Mutation	SNP	T	TCGA-14-0862-01B-01D-1845-08		125359436	9647080	22	9057											
VWF	7450	broad.mit.edu	37	chr12	6128780	6128780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgctgcagtagaaatcGtgcaacggcggttccgagat	10	8	13	10	4	0	2	0	0	0	2	2	3	1	2	2	2	5	5	2	2	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:6128780G>A	uc001qnn.1	-	27	4054	c.3804C>T	c.(3802-3804)caC>caT	p.H1268H	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1268			H -> D (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AGTAGAAATCGTGCAACGGCG	0.617													A	6128780	G	A	6128780	2	1	134	1	0	0	0	0	0	0	0	1	17348	1136	40	1		1	VWF	12	6128780	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		6128780	127723115	23	9058											
MON2	23041	broad.mit.edu	37	chr12	62954286	62954286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataggagatttttcaagagCttgggatgttcttcttgacc	9	16	10	6	0	3	3	1	1	2	2	3	5	3	4	1	2	1	2	1	2	3	8			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:62954286C>T	uc001sre.3	+	25	3816	c.3425C>T	c.(3424-3426)gCt>gTt	p.A1142V	MON2_uc010ssn.2_Missense_Mutation_p.A1142V|MON2_uc009zqj.3_Missense_Mutation_p.A1142V|MON2_uc010ssl.2_Missense_Mutation_p.A1070V|MON2_uc010ssm.2_Missense_Mutation_p.A1119V|MON2_uc001srf.3_Missense_Mutation_p.A905V|MON2_uc001srg.3_Missense_Mutation_p.A17V	NM_015026	NP_055841	Q7Z3U7	MON2_HUMAN	Homo sapiens MON2 homolog (S. cerevisiae) (MON2), mRNA.	1143					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TTTTCAAGAGCTTGGGATGTT	0.338													T	62954286	C	T	62954286	3	4	134	1	0	0	0	0	1	0	0	0	9776	797	28	2	3527	2	MON2	12	62954286	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	56825506	62954286	70897609	24	9059											
WSCD2	9671	broad.mit.edu	37	chr12	108589646	108589646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaattccagcggtacttcCgccggaaacctgtgcgcttc	8	10	9	14	4	1	0	1	0	0	0	4	1	3	1	4	2	4	2	4	2	3	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:108589646C>T	uc001tms.3	+	1	781	c.37C>T	c.(37-39)Cgc>Tgc	p.R13C	WSCD2_uc001tmt.3_Missense_Mutation_p.R13C	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	13						integral to membrane		p.R13H(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GCGGTACTTCCGCCGGAAACC	0.587													T	108589646	C	T	108589646	3	4	134	1	0	0	0	0	1	0	0	0	17509	652	23	1	39	1	WSCD2	12	108589646	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	45635360	108589646	25262249	25	9060											
TCHP	84260	broad.mit.edu	37	chr12	110352296	110352296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagaagattgagcagaaccGacgggcacaagaggaatccc	16	3	13	9	2	0	5	0	1	0	4	1	8	1	6	2	2	2	2	2	2	4	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:110352296G>A	uc001tpn.3	+	10	1337	c.1184G>A	c.(1183-1185)cGa>cAa	p.R395Q	TCHP_uc001tpo.1_Non-coding_Transcript|TCHP_uc001tpp.3_Missense_Mutation_p.R395Q	NM_001143852	NP_115676	Q9BT92	TCHP_HUMAN	Homo sapiens trichoplein, keratin filament binding (TCHP), transcript variant 2, mRNA.	395	Glu-rich.|Interaction with keratin proteins.|Trichohyalin/plectin homology domain.				apoptosis|negative regulation of cell growth	apical cortex|centrosome|keratin filament|mitochondrion|plasma membrane	protein binding	p.R395*(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GAGCAGAACCGACGGGCACAA	0.483													A	110352296	G	A	110352296	3	1	134	1	0	0	0	0	1	0	0	0	15802	1058	37	1	1222	1	TCHP	12	110352296	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	1762650	110352296	23499599	26	9061											
CLIP1	6249	broad.mit.edu	37	chr12	122825886	122825886	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccagtttggacttccatAgagctatcacatctgagttc	9	14	7	11	0	3	2	1	1	2	1	6	3	4	3	2	1	1	3	2	1	2	5			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr12:122825886A>T	uc001ucg.2	-	10	2020	c.1865T>A	c.(1864-1866)cTa>cAa	p.L622Q	CLIP1_uc001uch.1_Missense_Mutation_p.L611Q|CLIP1_uc001uci.1_Missense_Mutation_p.L576Q|CLIP1_uc001ucj.1_Missense_Mutation_p.L312Q|CLIP1_uc009zxo.1_Missense_Mutation_p.L178Q	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	622					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGACTTCCATAGAGCTATCAC	0.488													T	122825886	A	T	122825886	3	4	134	1	0	0	0	0	1	0	0	0	3563	420	15	5	2515	5	CLIP1	12	122825886	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	12473590	122825886	11026009	27	9062											
OR11H12	440153	broad.mit.edu	37	chr14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaatatcatgactgggcAtctctgtgccaaactggtca	10	12	8	11	0	3	1	2	1	1	0	5	1	4	1	2	2	2	1	2	2	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr14:19378054A>C	uc010tkp.2	+	0	461	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478													C	19378054	A	C	19378054	3	2	134	1	0	0	0	0	1	0	0	0	11003	217	8	5	463	5	OR11H12	14	19378054	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		19378054	87971486	28	9063											
TMCO5A	145942	broad.mit.edu	37	chr15	38228595	38228595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggaccttgaaagggataCgcagagaatagatgaagcaa	17	6	12	6	1	0	4	0	2	0	2	0	7	0	6	1	2	2	2	1	2	6	3	rs138045481		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:38228595C>T	uc001zjw.3	+	1	173	c.71C>T	c.(70-72)aCg>aTg	p.T24M	TMCO5A_uc001zjv.1_Missense_Mutation_p.T24M|TMCO5A_uc010bbc.1_Missense_Mutation_p.T24M	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	24						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						GAAAGGGATACGCAGAGAATA	0.398													T	38228595	C	T	38228595	3	4	134	1	0	0	0	0	1	0	0	0	16099	536	19	1	73	1	TMCO5A	15	38228595	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		38228595	64302797	29	9064											
USP8	9101	broad.mit.edu	37	chr15	50788098	50788098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatcatctcgatgacttTaaagctgcagaacatgcctg	13	11	8	9	1	2	3	1	2	1	1	3	4	2	3	1	0	4	2	1	0	4	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr15:50788098T>C	uc001zym.4	+	17	3212	c.2712T>C	c.(2710-2712)ttT>ttC	p.F904F	USP8_uc001zyl.4_Silent_p.F904F|USP8_uc001zyn.4_Silent_p.F904F|USP8_uc010ufh.2_Silent_p.F798F|AX746640_uc001zyo.1_5'Flank|USP8_uc001zyp.4_Silent_p.F71F	NM_001128611	NP_005145	P40818	UBP8_HUMAN	Homo sapiens ubiquitin specific peptidase 8 (USP8), transcript variant 3, mRNA.	904					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TCGATGACTTTAAAGCTGCAG	0.348													C	50788098	T	C	50788098	2	2	134	1	0	0	0	0	0	0	0	1	17191	1751	61	3		3	USP8	15	50788098	Silent	SNP	T	TCGA-14-0862-01B-01D-1845-08	12559503	50788098	51743294	30	9065											
ADCY9	115	broad.mit.edu	37	chr16	4016798	4016798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcggtgaagatccgCttccacgtctccgtggtagt	5	12	13	11	4	1	2	0	1	1	1	4	2	3	2	3	3	1	2	3	3	2	3			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:4016798C>T	uc002cvx.3	-	10	3579	c.3040G>A	c.(3040-3042)Gcg>Acg	p.A1014T		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	1014					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGAAGATCCGCTTCCACGTCT	0.567													T	4016798	C	T	4016798	3	4	134	1	0	0	0	0	1	0	0	0	301	797	28	2	1025	2	ADCY9	16	4016798	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		4016798	86337955	31	9066											
CRYM	1428	broad.mit.edu	37	chr16	21273454	21273454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcatcatccagttctctCcagtcaggtctgctggctcc	6	12	8	15	0	5	0	3	0	2	0	9	0	8	0	3	2	2	4	3	2	0	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:21273454C>A	uc002dim.3	-	7	997	c.699G>T	c.(697-699)tgG>tgT	p.W233C	CRYM_uc010bwq.1_Non-coding_Transcript|CRYM_uc002dil.3_Missense_Mutation_p.W191C	NM_001888	NP_001014444	Q14894	CRYM_HUMAN	Homo sapiens crystallin, mu (CRYM), transcript variant 1, mRNA.	233					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	CCAGTTCTCTCCAGTCAGGTC	0.532													A	21273454	C	A	21273454	3	1	134	1	0	0	0	0	1	0	0	0	3952	856	30	4	257	4	CRYM	16	21273454	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	17256656	21273454	69081299	32	9067											
PRSS36	146547	broad.mit.edu	37	chr16	31151619	31151619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcccctgtacctcaCacctgttctcctgcccctct	4	10	6	21	0	3	0	1	0	2	0	4	0	3	0	8	1	2	2	8	1	1	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr16:31151619C>A	uc002ebd.3	-	13	2344	c.2285G>T	c.(2284-2286)tGt>tTt	p.C762F	PRSS36_uc010vff.2_Missense_Mutation_p.C537F|PRSS36_uc010vfg.2_Missense_Mutation_p.C757F|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	762	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTGTACCTCACACCTGTTCTC	0.527													A	31151619	C	A	31151619	3	1	134	1	0	0	0	0	1	0	0	0	12710	478	17	4	290	4	PRSS36	16	31151619	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	9878165	31151619	59203134	33	9068											
NTN1	9423	broad.mit.edu	37	chr17	9066306	9066306	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcccatcacccaccggAaggcctgcaaaggtgggcta	11	4	12	14	1	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	4	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:9066306A>T	uc002glw.4	+	2	1302	c.1195A>T	c.(1195-1197)Aag>Tag	p.K399*		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	399	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CACCCACCGGAAGGCCTGCAA	0.637													T	9066306	A	T	9066306	4	4	134	1	0	0	0	0	0	1	0	0	10776	247	9	5	1201	5	NTN1	17	9066306	Nonsense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		9066306	72128904	34	9069											
HNF1B	6928	broad.mit.edu	37	chr17	36059152	36059152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaccaccattgcagatggaAaccgggaggtgtgggaatac	12	7	14	8	1	0	2	0	1	0	1	0	5	0	5	3	4	3	1	3	4	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:36059152A>G	uc002hok.4	-	7	1804	c.1583T>C	c.(1582-1584)tTt>tCt	p.F528S	HNF1B_uc021tvu.1_Missense_Mutation_p.F233S|HNF1B_uc010wdi.2_Missense_Mutation_p.F502S|HNF1B_uc021tvv.1_Intron|HNF1B_uc021tvw.1_Intron	NM_000458	NP_000449	P35680	HNF1B_HUMAN	Homo sapiens HNF1 homeobox B (HNF1B), transcript variant 1, mRNA.	528					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGCAGATGGAAACCGGGAGGT	0.517													G	36059152	A	G	36059152	3	3	134	1	0	0	0	0	1	0	0	0	7307	14	1	3	98	3	HNF1B	17	36059152	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	26992846	36059152	45136058	35	9070											
TMC8	147138	broad.mit.edu	37	chr17	76128876	76128876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcaacagccctccaGtgccctggtagccgccagtc	6	8	8	19	1	1	0	1	0	0	0	5	0	4	0	7	1	4	1	7	1	2	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr17:76128876G>A	uc002jup.2	+	4	838	c.456G>A	c.(454-456)caG>caA	p.Q152Q	TMC6_uc002jul.1_5'Flank|TMC8_uc002juq.2_5'UTR|TMC8_uc010wtr.1_5'Flank	NM_152468	NP_689681	Q8IU68	TMC8_HUMAN	Homo sapiens transmembrane channel-like 8 (TMC8), mRNA.	152						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CAGCCCTCCAGTGCCCTGGTA	0.592													A	76128876	G	A	76128876	2	1	134	1	0	0	0	0	0	0	0	1	16091	1020	36	2		2	TMC8	17	76128876	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08	40069724	76128876	5066334	36	9071											
DSC1	1823	broad.mit.edu	37	chr18	28712602	28712602	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgtcttctggaaaacAtttcttgactgttctcttag	8	17	8	8	0	4	1	0	1	4	0	5	2	4	2	0	2	1	2	0	2	4	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr18:28712602A>T	uc002kwn.3	-	13	2429	c.2167T>A	c.(2167-2169)Tgt>Agt	p.C723S	DSC1_uc002kwm.3_Missense_Mutation_p.C723S	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	723					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TCTGGAAAACATTTCTTGACT	0.328													T	28712602	A	T	28712602	3	4	134	1	0	0	0	0	1	0	0	0	4804	217	8	5	569	5	DSC1	18	28712602	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08		28712602	49364646	37	9072											
REXO1	57455	broad.mit.edu	37	chr19	1827919	1827924	+	In_Frame_Del	DEL	TCTGAG	TCTGAG	-																															ggaccgtggcggcctcatctTctgagtctgagaaccttgca																										TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:1827919_1827924delTCTGAG	uc002lua.4	-	1	959_964	c.864_869delCTCAGA	c.(862-870)gactcagaa>gaa	p.DS288del	REXO1_uc010dsr.1_In_Frame_Del_p.DS242del	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	288						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		GGCCTCATCTTCTGAGTCTGAGAACC	0.67													-	1827924	TCTGAG	-	1827919	7	5	134	1	0	1	0	1	0	0	0	0	13329	1783	62	0	2856	0	REXO1	19	1827919	In_Frame_Del	DEL	TCTGAG	TCGA-14-0862-01B-01D-1845-08		1827919	57301064	38	9073											
GNA11	2767	broad.mit.edu	37	chr19	3113330	3113330	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccgccctcgcaggcCaatgcgctcctgatccggga	5	6	11	19	4	0	1	0	1	0	0	3	2	2	2	6	2	2	2	6	2	1	0			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:3113330C>T	uc002lxd.3	+	2	566	c.324C>T	c.(322-324)gcC>gcT	p.A108A		NM_002067	NP_002058	P29992	GNA11_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), alpha 11 (Gq class) (GNA11), mRNA.	108					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.A108A(2)		endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CCTCGCAGGCCAATGCGCTCC	0.662			Mis		uveal melanoma								T	3113330	C	T	3113330	2	4	134	1	0	0	0	0	0	0	0	1	6555	581	21	2		2	GNA11	19	3113330	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	1285411	3113330	56015653	39	9074											
MCOLN1	57192	broad.mit.edu	37	chr19	7593590	7593590	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttcctgctgcagaacGtgaggcttctgcgtcatgtg	6	11	14	10	2	2	2	1	1	1	1	3	3	3	2	1	2	4	4	1	2	1	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:7593590G>A	uc002mgo.3	+	8	1125	c.984_splice	c.e8+1	p.N328_splice	MCOLN1_uc002mgp.3_Splice_Site_p.N293_splice	NM_020533	NP_065394	Q9GZU1	MCLN1_HUMAN	Homo sapiens mucolipin 1 (MCOLN1), mRNA.	328					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGCAGAACGTGAGGCTTCT	0.637													A	7593590	G	A	7593590	5	1	134	1	0	0	0	0	0	0	1	0	9470	1159	40	1	1015	1	MCOLN1	19	7593590	Splice_Site	SNP	G	TCGA-14-0862-01B-01D-1845-08	4480260	7593590	51535393	40	9075											
MUC16	94025	broad.mit.edu	37	chr19	9020077	9020077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcccagtacagccgctctCtgttgagtccagggcttttg	5	12	11	13	1	1	1	0	1	1	0	4	1	3	1	3	1	2	5	3	1	1	4			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9020077C>T	uc002mkp.3	-	20	37622	c.37418G>A	c.(37417-37419)aGa>aAa	p.R12473K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12475	SEA 3.				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						CAGCCGCTCTCTGTTGAGTCC	0.562													T	9020077	C	T	9020077	3	4	134	1	0	0	0	0	1	0	0	0	10049	913	32	2	6361	2	MUC16	19	9020077	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	1426487	9020077	50108906	41	9076											
OR7G2	390882	broad.mit.edu	37	chr19	9213273	9213273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgatctgagtgtaagacAaaatgattccagacagagga	16	8	12	5	0	1	6	0	3	1	3	2	7	2	7	1	2	0	1	1	2	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:9213273A>G	uc010xkk.2	-	0	710	c.710T>C	c.(709-711)tTg>tCg	p.L237S		NM_001005193	NP_001005193	Q8NG99	OR7G2_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 2 (OR7G2), mRNA.	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|skin(3)	16						AGTGTAAGACAAAATGATTCC	0.448													G	9213273	A	G	9213273	3	3	134	1	0	0	0	0	1	0	0	0	11299	131	5	3	329	3	OR7G2	19	9213273	Missense_Mutation	SNP	A	TCGA-14-0862-01B-01D-1845-08	193196	9213273	49915710	42	9077											
AKAP8	10270	broad.mit.edu	37	chr19	15484623	15484623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcctgtatgccctccccAccgccgccgctcccgcccct	2	7	8	24	5	0	0	0	0	0	0	3	0	3	0	10	1	1	2	10	1	1	1	rs117407939		TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:15484623A>G	uc002nav.3	-	3	415	c.345T>C	c.(343-345)ggT>ggC	p.G115G	AKAP8_uc010dzy.3_5'Flank|AKAP8_uc010dzz.1_Non-coding_Transcript|AKAP8_uc010xog.2_Intron	NM_005858	NP_005849	O43823	AKAP8_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8 (AKAP8), mRNA.	115	Poly-Gly.				signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGCCCTCCCCACCGCCGCCGC	0.632													G	15484623	A	G	15484623	2	3	134	1	0	0	0	0	0	0	0	1	457	146	6	3		3	AKAP8	19	15484623	Silent	SNP	A	TCGA-14-0862-01B-01D-1845-08	6271350	15484623	43644360	43	9078											
ZNF99	7652	broad.mit.edu	37	chr19	22941396	22941396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttatgttttctaagggCtgagaaacgcttaaaagctt	12	15	8	6	1	2	1	0	1	2	1	2	2	2	1	0	1	2	4	0	1	6	7			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:22941396C>A	uc021urt.1	-	3	1470	c.1315G>T	c.(1315-1317)Gcc>Tcc	p.A439S		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTTCTAAGGGCTGAGAAACGC	0.363													A	22941396	C	A	22941396	3	1	134	1	0	0	0	0	1	0	0	0	18303	797	28	4	2082	4	ZNF99	19	22941396	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	7456773	22941396	36187587	44	9079											
FCGBP	8857	broad.mit.edu	37	chr19	40363235	40363235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttcggccctcggcggtCacccgcacgcggcccacagc	5	6	12	18	6	1	0	1	0	0	0	3	0	1	0	3	4	1	2	3	4	0	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr19:40363235C>T	uc002omp.4	-	31	14843	c.14835G>A	c.(14833-14835)gtG>gtA	p.V4945V		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4945	VWFD 12.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCTCGGCGGTCACCCGCACGC	0.657													T	40363235	C	T	40363235	2	4	134	1	0	0	0	0	0	0	0	1	5827	813	29	2		2	FCGBP	19	40363235	Silent	SNP	C	TCGA-14-0862-01B-01D-1845-08	17421839	40363235	18765748	45	9080											
KCNG1	3755	broad.mit.edu	37	chr20	49626630	49626630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcgtcagcgggaactcGtccagcgtggtccagggcag	7	5	17	12	5	1	0	1	0	0	0	4	1	3	1	2	4	3	1	2	4	1	0			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr20:49626630G>A	uc002xwa.4	-	1	541	c.246C>T	c.(244-246)gaC>gaT	p.D82D	KCNG1_uc002xwb.3_Silent_p.D82D	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily G, member 1 (KCNG1), mRNA.	82						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GCGGGAACTCGTCCAGCGTGG	0.632													A	49626630	G	A	49626630	2	1	134	1	0	0	0	0	0	0	0	1	8085	1136	40	1		1	KCNG1	20	49626630	Silent	SNP	G	TCGA-14-0862-01B-01D-1845-08		49626630	13398890	46	9081											
LZTR1	8216	broad.mit.edu	37	chr22	21349215	21349217	+	In_Frame_Del	DEL	GAA	GAA	-																															ttcaaccaggtgatcatgatGaaggagttcgagcgcctctc																										TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:21349215_21349217delGAA	uc002zto.3	+	15	1945_1947	c.1842_1844delGAA	c.(1840-1845)atgaag>atg	p.K615del	LZTR1_uc002ztn.3_In_Frame_Del_p.K574del|LZTR1_uc011ahy.2_In_Frame_Del_p.K596del	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	615					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGATCATGATGAAGGAGTTCGAG	0.601													-	21349217	GAA	-	21349215	7	5	134	1	0	1	0	1	0	0	0	0	9208	1290	45	0	1904	0	LZTR1	22	21349215	In_Frame_Del	DEL	GAA	TCGA-14-0862-01B-01D-1845-08		21349215	29955351	47	9082											
MN1	4330	broad.mit.edu	37	chr22	28193444	28193444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccgacttggccccgcCgtccagggacccaatgaggt	7	7	12	15	3	0	1	0	1	0	0	2	3	2	2	6	3	0	0	6	3	1	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chr22:28193444C>T	uc003adj.3	-	0	4043	c.3088G>A	c.(3088-3090)Ggc>Agc	p.G1030S		NM_002430	NP_002421	Q10571	MN1_HUMAN	Homo sapiens meningioma (disrupted in balanced translocation) 1 (MN1), mRNA.	1030							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TTGGCCCCGCCGTCCAGGGAC	0.657			T	ETV6	"AML, meningioma"								T	28193444	C	T	28193444	3	4	134	1	0	0	0	0	1	0	0	0	9749	652	23	1	882	1	MN1	22	28193444	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	6844229	28193444	23111122	48	9083											
MID1	4281	broad.mit.edu	37	chrX	10535512	10535512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgaagcagaggctgtgtgCgcagggcagtagaagagggt	10	7	19	5	1	0	4	0	1	0	3	0	4	0	4	0	3	2	6	0	3	3	2			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:10535512C>T	uc004cte.4	-	1	266	c.76G>A	c.(76-78)Gca>Aca	p.A26T	MID1_uc004ctd.4_5'Flank|MID1_uc004ctg.4_Missense_Mutation_p.A26T|MID1_uc004cth.4_Missense_Mutation_p.A26T|MID1_uc004ctk.4_Missense_Mutation_p.A26T|MID1_uc004ctj.4_Missense_Mutation_p.A26T|MID1_uc004cti.4_Missense_Mutation_p.A26T|MID1_uc011mie.1_Non-coding_Transcript|MID1_uc004ctm.2_Missense_Mutation_p.A26T|MID1_uc004ctn.2_Missense_Mutation_p.A26T|MID1_uc004cto.2_Missense_Mutation_p.A26T|MID1_uc010ndw.1_5'Flank|MID1_uc004cts.1_5'Flank|MID1_uc004ctt.3_Missense_Mutation_p.A26T|MID1_uc004ctu.3_Missense_Mutation_p.A26T|MID1_uc004ctv.3_Missense_Mutation_p.A26T|MID1_uc004ctw.3_Missense_Mutation_p.A26T|MID1_uc010ndy.2_Missense_Mutation_p.A26T|MID1_uc010ndz.1_5'Flank|MID1_uc004cty.3_Missense_Mutation_p.A26T|MID1_uc004ctz.1_5'Flank|MID1_uc004cua.1_Non-coding_Transcript|MID1_uc004cub.1_Missense_Mutation_p.A26T|MID1_uc004cuc.1_Missense_Mutation_p.A26T|MID1_uc004cud.1_Missense_Mutation_p.A26T|MID1_uc004cue.1_Missense_Mutation_p.A26T|MID1_uc004cuf.1_Missense_Mutation_p.A26T|MID1_uc004cug.1_Missense_Mutation_p.A26T	NM_001193277	NP_150632	O15344	TRI18_HUMAN	Homo sapiens midline 1 (Opitz/BBB syndrome) (MID1), transcript variant 2, mRNA.	26					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTGTGTGCGCAGGGCAGT	0.557													T	10535512	C	T	10535512	3	4	134	1	0	0	0	0	1	0	0	0	9651	768	27	1	1963	1	MID1	23	10535512	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08		10535512	144735048	49	9084											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299277	125299277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgccgtcgcgggagcCgctcacagctacggtgtcac	6	6	14	15	6	2	0	2	0	0	0	3	1	2	1	2	3	4	2	2	3	1	1			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:125299277C>T	uc004euk.2	-	0	804	c.631G>A	c.(631-633)Ggc>Agc	p.G211S		NM_001013628	NP_001013650	Q5VW00	DC122_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 2 (DCAF12L2), mRNA.	211										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						TCGCGGGAGCCGCTCACAGCT	0.647													T	125299277	C	T	125299277	3	4	134	1	0	0	0	0	1	0	0	0	4299	652	23	1	764	1	DCAF12L2	23	125299277	Missense_Mutation	SNP	C	TCGA-14-0862-01B-01D-1845-08	114763765	125299277	29971283	50	9085											
FRMD7	90167	broad.mit.edu	37	chrX	131212955	131212955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactccattcacattttGgtagtagccaccaccatatg	10	12	7	12	0	1	0	1	0	0	0	2	0	2	0	4	1	2	3	4	1	3	6			TCGA-14-0862-01B-01D-1845-08	TCGA-14-0862-10C-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0b7d451-8190-45a4-8242-bf698f05243d	d15b6e3c-742f-48d9-bd31-63f930b56060	g.chrX:131212955G>C	uc004ewn.3	-	11	1268	c.1090C>G	c.(1090-1092)Caa>Gaa	p.Q364E	FRMD7_uc022cdy.1_Missense_Mutation_p.Q244E|FRMD7_uc011muy.2_Missense_Mutation_p.Q349E	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	364					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTCACATTTTGGTAGTAGCCA	0.488													C	131212955	G	C	131212955	3	2	134	1	0	0	0	0	1	0	0	0	6107	1357	47	4	1058	4	FRMD7	23	131212955	Missense_Mutation	SNP	G	TCGA-14-0862-01B-01D-1845-08	5913678	131212955	24057605	51	9086											
FUCA1	2517	broad.mit.edu	37	chr1	24189688	24189688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgctgtgttttgaagcCatttttcttatcaagtagat	12	17	7	5	0	2	2	1	1	1	1	2	2	2	2	1	0	2	3	1	0	6	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189688C>T	uc001bie.3	-	2	681	c.598G>A	c.(598-600)Ggc>Agc	p.G200S	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	200					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		GTTTTGAAGCCATTTTTCTTA	0.388													T	24189688	C	T	24189688	3	4	135	1	0	0	0	0	1	0	0	0	6146	594	21	2	826	2	FUCA1	1	24189688	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		24189688	225060933	1	9087			1	26		2	2	40	C		8.314483e-05
FUCA1	2517	broad.mit.edu	37	chr1	24189727	24189727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atagagtggatggaaccactCtaagagtgagtggtatagtc	13	10	13	5	0	1	3	0	1	1	2	2	5	1	5	1	3	1	1	1	3	5	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:24189727C>T	uc001bie.3	-	2	642	c.559G>A	c.(559-561)Gag>Aag	p.E187K	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	187					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		TGGAACCACTCTAAGAGTGAG	0.358													T	24189727	C	T	24189727	3	4	135	1	0	0	0	0	1	0	0	0	6146	922	32	2	865	2	FUCA1	1	24189727	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	39	24189727	225060894	2	9088			1	26		2	2	40	C		8.314483e-05
LRRC41	10489	broad.mit.edu	37	chr1	46745257	46745257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattgggctgggcgcttctCaaacagacggcagaaggaga	13	6	14	8	2	1	3	1	0	1	3	2	4	1	3	0	4	1	3	0	4	3	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:46745257C>G	uc001cpn.3	-	7	2094	c.2050G>C	c.(2050-2052)Gag>Cag	p.E684Q	LRRC41_uc010omb.2_Missense_Mutation_p.E684Q	NM_006369	NP_006360	Q15345	LRC41_HUMAN	Homo sapiens leucine rich repeat containing 41 (LRRC41), mRNA.	684										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCGCTTCTCAAACAGACGG	0.552													G	46745257	C	G	46745257	3	3	135	1	0	0	0	0	1	0	0	0	9069	835	29	4	400	4	LRRC41	1	46745257	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	22555530	46745257	202505364	3	9089											
IFI16	3428	broad.mit.edu	37	chr1	158986412	158986412	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctctcctgcaggagcCggcatgtccacagccatggg	6	7	11	17	1	1	0	0	0	1	0	4	1	3	1	6	3	3	2	6	3	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:158986412C>G	uc001ftg.3	+	3	761	c.471C>G	c.(469-471)gcC>gcG	p.A157A	IFI16_uc010pis.2_Intron|IFI16_uc010pit.2_Silent_p.A157A|IFI16_uc001ftf.1_Silent_p.A157A	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.	157					cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CTGCAGGAGCCGGCATGTCCA	0.522													G	158986412	C	G	158986412	2	3	135	1	0	0	0	0	0	0	0	1	7569	639	23	4		4	IFI16	1	158986412	Silent	SNP	C	TCGA-14-0871-01A-01W-0424-08	112241155	158986412	90264209	4	9090											
NR5A2	2494	broad.mit.edu	37	chr1	200017711	200017711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctattcatatatggataGttaccagacgagctctccag	11	11	10	9	1	2	1	1	0	1	1	3	3	2	2	2	2	2	3	2	2	5	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:200017711G>C	uc001gvb.3	+	4	1081	c.875G>C	c.(874-876)aGt>aCt	p.S292T	NR5A2_uc001gvc.3_Missense_Mutation_p.S246T|NR5A2_uc009wzh.3_Missense_Mutation_p.S252T|NR5A2_uc010pph.2_Missense_Mutation_p.S220T	NM_205860	NP_995582	O00482	NR5A2_HUMAN	Homo sapiens nuclear receptor subfamily 5, group A, member 2 (NR5A2), transcript variant 1, mRNA.	292					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					TATATGGATAGTTACCAGACG	0.488													C	200017711	G	C	200017711	3	2	135	1	0	0	0	0	1	0	0	0	10712	1029	36	4	893	4	NR5A2	1	200017711	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	41031299	200017711	49232910	5	9091											
OR2T3	343173	broad.mit.edu	37	chr1	248637231	248637231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgctgaagctctccTgctctgacgtctccctctat	4	13	7	17	1	4	2	0	2	4	0	6	2	4	2	3	0	4	3	3	0	2	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr1:248637231T>C	uc001iel.1	+	0	580	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAAGCTCTCCTGCTCTGACGT	0.517													C	248637231	T	C	248637231	3	2	135	1	0	0	0	0	1	0	0	0	11099	1580	55	3	582	3	OR2T3	1	248637231	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	48619520	248637231	613390	6	9092											
APOB	338	broad.mit.edu	37	chr2	21247830	21247830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggatcccctgcagagtgCgggcacccatcagaagcagc	9	4	15	13	1	1	2	1	0	0	2	2	3	2	3	3	3	4	3	3	3	1	0	rs148190577	byFrequency	TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:21247830C>T	uc002red.3	-	15	2539	c.2411G>A	c.(2410-2412)cGc>cAc	p.R804H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	804				LQLLGKLLLMGARTLQGI -> SSSWKAASHGCPHSAGD (in Ref. 12; AAA51759).	cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGCAGAGTGCGGGCACCCAT	0.587													T	21247830	C	T	21247830	3	4	135	1	0	0	0	0	1	0	0	0	788	768	27	1	11336	1	APOB	2	21247830	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		21247830	221951543	7	9093											
NRXN1	9378	broad.mit.edu	37	chr2	50765702	50765702	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccccaggtacaactcaTcatccaggtccagaatctca	11	7	6	17	0	3	1	3	0	1	1	6	1	5	1	5	2	2	1	5	2	3	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:50765702T>A	uc021vhh.1	-	8	2753	c.1832A>T	c.(1831-1833)gAt>gTt	p.D611V	NRXN1_uc002rxb.4_Missense_Mutation_p.D283V|NRXN1_uc021vhg.1_Missense_Mutation_p.D651V|NRXN1_uc021vhi.1_Missense_Mutation_p.D647V|NRXN1_uc021vhj.1_Missense_Mutation_p.D607V|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	611	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTACAACTCATCATCCAGGTC	0.527													A	50765702	T	A	50765702	3	1	135	1	0	0	0	0	1	0	0	0	10741	1435	50	5	3010	5	NRXN1	2	50765702	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	29517872	50765702	192433671	8	9094											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046427	69046427	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagacctccgaatttcTaggacagacagcttcagtag	13	9	9	10	1	2	3	1	1	1	2	3	5	3	4	2	1	1	2	2	1	4	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:69046427T>C	uc010fdg.3	+	8	1595	c.1176T>C	c.(1174-1176)tcT>tcC	p.S392S	ARHGAP25_uc010yql.2_Silent_p.S352S|ARHGAP25_uc002sev.3_Silent_p.S385S|ARHGAP25_uc002sew.3_Silent_p.S384S|ARHGAP25_uc002sex.3_Silent_p.S385S	NM_001007231	NP_001007232	P42331	RHG25_HUMAN	Homo sapiens Rho GTPase activating protein 25 (ARHGAP25), transcript variant 1, mRNA.	391					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCCGAATTTCTAGGACAGACA	0.532													C	69046427	T	C	69046427	2	2	135	1	0	0	0	0	0	0	0	1	877	1509	53	3		3	ARHGAP25	2	69046427	Silent	SNP	T	TCGA-14-0871-01A-01W-0424-08	18280725	69046427	174152946	9	9095											
LMAN2L	81562	broad.mit.edu	37	chr2	97400183	97400183	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtaccagattgccaaGccatccccatgcagattctt	9	13	7	12	0	1	2	0	0	1	2	2	2	2	2	5	0	4	2	5	0	2	5			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:97400183G>C	uc002swv.3	-	2	423	c.387C>G	c.(385-387)ggC>ggG	p.G129G	LMAN2L_uc002swu.3_Silent_p.G129G|LMAN2L_uc010yuu.2_5'UTR|LMAN2L_uc010yut.2_Missense_Mutation_p.A12G|LMAN2L_uc010yuv.2_5'UTR|LMAN2L_uc010yuw.2_Missense_Mutation_p.A12G|LMAN2L_uc010yux.2_Missense_Mutation_p.A12G	NM_001142292	NP_001135764	Q9H0V9	LMA2L_HUMAN	Homo sapiens lectin, mannose-binding 2-like (LMAN2L), transcript variant 1, mRNA.	129	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						AGATTGCCAAGCCATCCCCAT	0.473													C	97400183	G	C	97400183	2	2	135	1	0	0	0	0	0	0	0	1	8900	958	34	4		4	LMAN2L	2	97400183	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	28353756	97400183	145799190	10	9096											
MFSD9	84804	broad.mit.edu	37	chr2	103340253	103340253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaccgaccacggggcccaaGatgaagcccacaccggaggc	11	1	12	17	3	0	2	0	1	0	1	0	4	0	3	6	4	1	0	6	4	2	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:103340253G>C	uc002tcb.2	-	4	611	c.543C>G	c.(541-543)atC>atG	p.I181M	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.I120M	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	181					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						CGGGGCCCAAGATGAAGCCCA	0.502													C	103340253	G	C	103340253	3	2	135	1	0	0	0	0	1	0	0	0	9614	932	33	4	889	4	MFSD9	2	103340253	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	5940070	103340253	139859120	11	9097											
FIGN	55137	broad.mit.edu	37	chr2	164466661	164466661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataattttctctgcttctcCtaaccacttggcgactagtc	8	15	6	12	1	2	0	0	0	2	0	5	2	2	0	2	1	2	1	2	1	3	7			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:164466661C>T	uc002uck.1	-	2	1992	c.1681G>A	c.(1681-1683)Gga>Aga	p.G561R		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	561						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCTGCTTCTCCTAACCACTTG	0.493													T	164466661	C	T	164466661	3	4	135	1	0	0	0	0	1	0	0	0	5940	690	24	2	602	2	FIGN	2	164466661	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	61126408	164466661	78732712	12	9098											
CPO	130749	broad.mit.edu	37	chr2	207827161	207827161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgcctctagaaactgccaAgatcaaacattctgtgggac	12	9	10	10	0	3	2	1	0	2	2	3	3	3	3	2	2	4	0	2	2	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:207827161A>T	uc002vby.2	+	6	646	c.600A>T	c.(598-600)caA>caT	p.Q200H		NM_173077	NP_775100	Q8IVL8	CBPO_HUMAN	Homo sapiens carboxypeptidase O (CPO), mRNA.	200					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		GAAACTGCCAAGATCAAACAT	0.448													T	207827161	A	T	207827161	3	4	135	1	0	0	0	0	1	0	0	0	3851	69	3	5	626	5	CPO	2	207827161	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	43360500	207827161	35372212	13	9099											
SPHKAP	80309	broad.mit.edu	37	chr2	228881144	228881144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatttgacaagcgctcaCggctgtgtctccacctctca	8	11	9	13	2	3	1	2	1	2	0	5	2	3	2	2	2	1	2	2	2	1	1	rs150119101		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr2:228881144C>T	uc002vpq.2	-	6	4473	c.4426G>A	c.(4426-4428)Gtg>Atg	p.V1476M	SPHKAP_uc002vpp.2_Missense_Mutation_p.V1476M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V1476M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1476						cytoplasm	protein binding	p.A1475V(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAAGCGCTCACGGCTGTGTCT	0.463													T	228881144	C	T	228881144	3	4	135	1	0	0	0	0	1	0	0	0	15144	536	19	1	700	1	SPHKAP	2	228881144	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	21053983	228881144	14318229	14	9100											
COL7A1	1294	broad.mit.edu	37	chr3	48612126	48612126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccctgtctcctttgggaCcttggtcaccattgctgccc	4	13	8	16	0	3	0	2	0	1	0	4	1	3	1	5	2	2	1	5	2	0	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:48612126C>G	uc003ctz.2	-	76	6378	c.6377G>C	c.(6376-6378)gGt>gCt	p.G2126A		NM_000094	NP_000085	Q02388	CO7A1_HUMAN	Homo sapiens collagen, type VII, alpha 1 (COL7A1), mRNA.	2126	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCTTTGGGACCTTGGTCACC	0.607													G	48612126	C	G	48612126	3	3	135	1	0	0	0	0	1	0	0	0	3735	507	18	4	2625	4	COL7A1	3	48612126	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		48612126	149410304	15	9101											
C3orf38	285237	broad.mit.edu	37	chr3	88205314	88205314	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggaccacagcacttctgGcatgatgtgaagcttaggtt	9	11	13	8	0	1	2	0	2	1	0	1	3	1	3	1	4	2	4	1	4	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:88205314G>A	uc003dqw.3	+	2	829	c.519G>A	c.(517-519)tgG>tgA	p.W173*		NM_173824	NP_776185	Q5JPI3	CC038_HUMAN	Homo sapiens chromosome 3 open reading frame 38 (C3orf38), mRNA.	173					apoptosis			p.W171*(1)		breast(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	12		Lung NSC(201;0.17)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGCACTTCTGGCATGATGTGA	0.418													A	88205314	G	A	88205314	4	1	135	1	0	0	0	0	0	1	0	0	2249	1212	42	2	529	2	C3orf38	3	88205314	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	39593188	88205314	109817116	16	9102											
DRD3	1814	broad.mit.edu	37	chr3	113847759	113847759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagcagacaatgaaggccCctaagttgccaaataagaga	16	5	10	10	0	0	3	0	1	0	2	0	4	0	3	4	1	2	2	4	1	5	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:113847759C>T	uc003ebd.2	-	8	1430	c.1007_splice	c.e8-1	p.G336_splice	DRD3_uc010hqn.1_Splice_Site_p.G336_splice|DRD3_uc003ebb.1_Splice_Site_p.G303_splice|DRD3_uc003ebc.1_Splice_Site_p.G336_splice	NM_000796	NP_000787	P35462	DRD3_HUMAN	Homo sapiens dopamine receptor D3 (DRD3), transcript variant a, mRNA.	336					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AATGAAGGCCCCTAAGTTGCC	0.478													T	113847759	C	T	113847759	3	4	135	1	0	0	0	0	1	0	0	0	4797	637	22	2	199	2	DRD3	3	113847759	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	25642445	113847759	84174671	17	9103											
PPM1L	151742	broad.mit.edu	37	chr3	160786689	160786689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatccgctgaaaaatctcaAcgtggtcatcccagacccag	12	9	7	13	2	2	2	2	1	1	1	5	2	4	2	3	1	1	1	3	1	4	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:160786689A>G	uc003fdr.3	+	3	928	c.827A>G	c.(826-828)aAc>aGc	p.N276S	PPM1L_uc003fds.3_Missense_Mutation_p.N97S|PPM1L_uc003fdt.3_Missense_Mutation_p.N149S|PPM1L_uc010hwf.3_Non-coding_Transcript	NM_139245	NP_640338	Q5SGD2	PPM1L_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1L (PPM1L), mRNA.	276	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AAAAATCTCAACGTGGTCATC	0.522													G	160786689	A	G	160786689	3	3	135	1	0	0	0	0	1	0	0	0	12426	43	2	3	841	3	PPM1L	3	160786689	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	46938930	160786689	37235741	18	9104											
PCYT1A	5130	broad.mit.edu	37	chr3	195969479	195969479	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcactgccagcagatgaAtaaggaatatcatcatgggc	14	9	9	9	0	4	2	4	1	0	1	4	3	4	3	1	2	2	1	1	2	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr3:195969479A>C	uc003fwg.3	-	6	692	c.519T>G	c.(517-519)taT>taG	p.Y173*	PCYT1A_uc003fwh.3_Nonsense_Mutation_p.Y173*	NM_005017	NP_005008	P49585	PCY1A_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, alpha (PCYT1A), mRNA.	173	Catalytic (Potential).					cytosol|soluble fraction	choline-phosphate cytidylyltransferase activity			cervix(1)|endometrium(3)|large_intestine(8)|lung(5)|ovary(1)	18	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.28e-24)|all cancers(36;1.01e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00259)	Choline(DB00122)	CAGCAGATGAATAAGGAATAT	0.428													C	195969479	A	C	195969479	4	2	135	1	0	0	0	0	0	1	0	0	11686	108	4	5	600	5	PCYT1A	3	195969479	Nonsense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	35182790	195969479	2052951	19	9105											
CYP2U1	113612	broad.mit.edu	37	chr4	108866315	108866315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctccatcatcagcaatgCcgtctctaacatcatttgct	9	15	4	13	1	5	0	3	0	2	0	7	0	5	0	2	0	4	2	2	0	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:108866315C>T	uc003hyp.3	+	1	763	c.680C>T	c.(679-681)gCc>gTc	p.A227V	CYP2U1_uc011cfi.2_Missense_Mutation_p.A18V	NM_183075	NP_898898	Q7Z449	CP2U1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily U, polypeptide 1 (CYP2U1), mRNA.	227					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.A227A(1)		breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		ATCAGCAATGCCGTCTCTAAC	0.438													T	108866315	C	T	108866315	3	4	135	1	0	0	0	0	1	0	0	0	4208	739	26	2	686	2	CYP2U1	4	108866315	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		108866315	82287961	20	9106											
ANK2	287	broad.mit.edu	37	chr4	114279919	114279919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggacatggcaagcaTcgcaccagataatagaagca	16	4	12	9	1	0	2	0	0	0	2	1	4	0	4	1	3	2	4	1	3	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:114279919T>C	uc003ibe.4	+	37	10245	c.10145T>C	c.(10144-10146)aTc>aCc	p.I3382T	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.I3397T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	3349					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATGGCAAGCATCGCACCAGAT	0.463													C	114279919	T	C	114279919	3	2	135	1	0	0	0	0	1	0	0	0	621	1435	50	3	10360	3	ANK2	4	114279919	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	5413604	114279919	76874357	21	9107											
MLF1IP	79682	broad.mit.edu	37	chr4	185631267	185631267	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaattcaggcaaaacaatAttcaactccttgatgtcact	15	12	4	10	0	4	1	4	1	0	0	5	1	5	1	1	1	2	1	1	1	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr4:185631267A>G	uc003iwq.3	-	7	826	c.756T>C	c.(754-756)aaT>aaC	p.N252N	MLF1IP_uc003iwp.3_Non-coding_Transcript|MLF1IP_uc003iwr.1_Silent_p.N252N	NM_024629	NP_078905	Q71F23	CENPU_HUMAN	Homo sapiens MLF1 interacting protein (MLF1IP), mRNA.	252					CenH3-containing nucleosome assembly at centromere|interspecies interaction between organisms|mitotic prometaphase|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|condensed chromosome kinetochore|cytosol|nucleoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|stomach(1)	13		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Hepatocellular(41;0.000519)|Colorectal(36;0.00172)|Renal(120;0.00988)|Prostate(90;0.0235)|all_neural(102;0.0299)|all_hematologic(60;0.0592)|Medulloblastoma(177;0.146)		all cancers(43;7.83e-28)|Epithelial(43;2.56e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-11)|Colorectal(24;3.27e-06)|STAD - Stomach adenocarcinoma(60;2.66e-05)|GBM - Glioblastoma multiforme(59;3.16e-05)|BRCA - Breast invasive adenocarcinoma(30;0.000252)|COAD - Colon adenocarcinoma(29;0.000512)|LUSC - Lung squamous cell carcinoma(40;0.01)|READ - Rectum adenocarcinoma(43;0.0419)		GCAAAACAATATTCAACTCCT	0.348													G	185631267	A	G	185631267	2	3	135	1	0	0	0	0	0	0	0	1	9690	446	16	3		3	MLF1IP	4	185631267	Silent	SNP	A	TCGA-14-0871-01A-01W-0424-08	71351348	185631267	5523009	22	9108											
MTRR	4552	broad.mit.edu	37	chr5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgggttctctaggtctcgGtgattcagaatacacctact	8	15	9	9	1	3	2	1	1	2	1	5	2	3	2	1	3	2	1	1	3	4	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:7875377G>A	uc003jed.3	+	3	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_uc010itn.1_Non-coding_Transcript|MTRR_uc003jee.4_Missense_Mutation_p.G97D|MTRR_uc003jef.4_Non-coding_Transcript|MTRR_uc003jeg.4_Non-coding_Transcript|MTRR_uc010ito.3_Non-coding_Transcript	NM_024010	NP_076915	Q9UBK8	MTRR_HUMAN	Homo sapiens 5-methyltetrahydrofolate-homocysteine methyltransferase reductase (MTRR), transcript variant 2, mRNA.	124	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348													A	7875377	G	A	7875377	3	1	135	1	0	0	0	0	1	0	0	0	10037	1261	44	2	385	2	MTRR	5	7875377	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		7875377	173039883	23	9109											
MARCH6	10299	broad.mit.edu	37	chr5	10423856	10423857	+	Frame_Shift_Ins	INS	-	-	T																															aattccctaggactgggcacINSttggagtcctgcatgccaaa																										TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:10423856_10423857insT	uc003jet.1	+	22	2476_2477	c.2293_2294insT	c.(2293-2295)cttfs	p.L765fs	MARCH6_uc011cmu.1_Frame_Shift_Ins_p.L717fs|MARCH6_uc003jeu.1_Frame_Shift_Ins_p.L463fs|MARCH6_uc011cmv.1_Frame_Shift_Ins_p.L660fs	NM_005885	NP_005876	O60337	MARH6_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 6 (MARCH6), mRNA.	765					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						GGACTGGGCACTTGGAGTCCTG	0.361													T	10423857	-	T	10423856	7	5	135	1	0	1	1	0	0	0	0	0	9380	565	20	0	2383	0	MARCH6	5	10423856	Frame_Shift_Ins	INS	-	TCGA-14-0871-01A-01W-0424-08	2548479	10423856	170491404	24	9110											
RAB24	53917	broad.mit.edu	37	chr5	176729179	176729179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagctgagctttgataTctgtaaagagaagtgactaa	16	10	10	5	0	1	5	0	3	1	2	1	6	1	5	0	0	2	3	0	0	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr5:176729179T>C	uc003mfv.3	-	7	803	c.434_splice	c.e7-1	p.N145_splice	RAB24_uc003mfw.3_Splice_Site_p.N145_splice|PRELID1_uc003mfx.3_5'Flank|PRELID1_uc021yiq.1_5'Flank	NM_130781	NP_570137	Q969Q5	RAB24_HUMAN	Homo sapiens RAB24, member RAS oncogene family (RAB24), transcript variant 2, mRNA.	145					autophagy|protein transport|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|protein binding					all_cancers(89;2.49e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTTTGATATCTGTAAAGAG	0.502													C	176729179	T	C	176729179	3	2	135	1	0	0	0	0	1	0	0	0	12999	1449	50	3	189	3	RAB24	5	176729179	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	166305323	176729179	4186081	25	9111											
HUS1B	135458	broad.mit.edu	37	chr6	656375	656375	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctccgtctctatactcagGgtcatcctgccactgaggtt	7	12	8	14	1	3	1	2	1	1	0	6	1	5	1	4	2	2	1	4	2	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:656375G>A	uc003mtg.3	-	0	590	c.570C>T	c.(568-570)acC>acT	p.T190T	EXOC2_uc003mtd.3_Intron|EXOC2_uc003mte.3_Intron|EXOC2_uc011dho.2_Intron	NM_148959	NP_683762	Q8NHY5	HUS1B_HUMAN	Homo sapiens HUS1 checkpoint homolog b (S. pombe) (HUS1B), mRNA.	190										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		CTATACTCAGGGTCATCCTGC	0.562													A	656375	G	A	656375	2	1	135	1	0	0	0	0	0	0	0	1	7518	1219	43	2		2	HUS1B	6	656375	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08		656375	170458692	26	9112											
TTBK1	84630	broad.mit.edu	37	chr6	43250498	43250498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccatttgaggtgaatGgcctcccacgagctgtgcct	6	9	11	15	2	0	2	0	2	0	0	1	3	1	2	5	2	2	1	5	2	1	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:43250498G>T	uc003ouq.1	+	13	2299	c.2020G>T	c.(2020-2022)Ggc>Tgc	p.G674C	TTBK1_uc021yzs.1_5'UTR	NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	674						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	p.G674G(1)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TGAGGTGAATGGCCTCCCACG	0.612													T	43250498	G	T	43250498	3	4	135	1	0	0	0	0	1	0	0	0	16778	1348	47	4	2070	4	TTBK1	6	43250498	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	42594123	43250498	127864569	27	9113											
SYNE1	23345	broad.mit.edu	37	chr6	152779932	152779932	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactcgattgtgcctcaCgctcaagaactgtgataatt	10	11	10	10	2	2	2	2	1	0	1	3	3	2	2	1	1	2	2	1	1	3	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr6:152779932C>G	uc021zhb.1	-	19	2751	c.2528G>C	c.(2527-2529)cGt>cCt	p.R843P	SYNE1_uc003qot.4_Missense_Mutation_p.R850P|SYNE1_uc003qou.4_Missense_Mutation_p.R843P|SYNE1_uc010kjb.1_Missense_Mutation_p.R826P|SYNE1_uc003qow.3_Missense_Mutation_p.R138P|SYNE1_uc003qox.1_Missense_Mutation_p.R359P|SYNE1_uc003qoz.2_Missense_Mutation_p.R275P|SYNE1_uc003qoy.2_Missense_Mutation_p.R410P	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	843					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)		TTGTGCCTCACGCTCAAGAAC	0.403										HNSCC(10;0.0054)			G	152779932	C	G	152779932	3	3	135	1	0	0	0	0	1	0	0	0	15542	536	19	4	24438	4	SYNE1	6	152779932	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	109529434	152779932	18335135	28	9114											
GIMAP2	26157	broad.mit.edu	37	chr7	150390248	150390248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtggctttgcatactgCacagcatgtgcaatttgttt	7	17	9	8	0	1	0	0	0	1	0	1	0	1	0	0	1	5	6	0	1	2	5			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr7:150390248C>T	uc003who.3	+	2	962	c.874C>T	c.(874-876)Cac>Tac	p.H292Y		NM_015660	NP_056475	Q9UG22	GIMA2_HUMAN	Homo sapiens GTPase, IMAP family member 2 (GIMAP2), mRNA.	292						integral to membrane	GTP binding			kidney(1)|large_intestine(1)|lung(8)|skin(2)|urinary_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTGCATACTGCACAGCATGTG	0.328													T	150390248	C	T	150390248	3	4	135	1	0	0	0	0	1	0	0	0	6436	710	25	2	880	2	GIMAP2	7	150390248	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		150390248	8748415	29	9115											
XKR5	389610	broad.mit.edu	37	chr8	6681094	6681094	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtagaacagaaccagacTcagcacgcgggttcccaaca	13	7	9	12	2	1	3	1	0	0	3	2	3	2	3	2	1	4	3	2	1	4	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr8:6681094T>A	uc022aqv.1	-	3	737	c.586A>T	c.(586-588)Agt>Tgt	p.S196C	XKR5_uc003wqq.3_Missense_Mutation_p.S33C	NM_207411	NP_997294	Q6UX68	XKR5_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 5 (XKR5), mRNA.	196						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGAACCAGACTCAGCACGCGG	0.542													A	6681094	T	A	6681094	3	1	135	1	0	0	0	0	1	0	0	0	17536	1551	54	5	1491	5	XKR5	8	6681094	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		6681094	139682928	30	9116											
PTPRD	5789	broad.mit.edu	37	chr9	8389318	8389318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaaagtccccaaatgtttCggggagagatccctgtgttg	10	10	11	10	1	0	1	0	0	0	1	3	3	2	2	4	2	0	2	4	2	3	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:8389318C>T	uc003zkk.3	-	36	5043	c.4300G>A	c.(4300-4302)Gaa>Aaa	p.E1434K	PTPRD_uc003zkp.3_Missense_Mutation_p.E1028K|PTPRD_uc003zkq.3_Missense_Mutation_p.E1027K|PTPRD_uc003zkr.3_Missense_Mutation_p.E1018K|PTPRD_uc003zks.3_Missense_Mutation_p.E1027K|PTPRD_uc022bdj.1_Missense_Mutation_p.E1024K	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1434	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCAAATGTTTCGGGGAGAGAT	0.418										TSP Lung(15;0.13)			T	8389318	C	T	8389318	3	4	135	1	0	0	0	0	1	0	0	0	12887	893	31	1	1478	1	PTPRD	9	8389318	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		8389318	132824113	31	9117											
SLC28A3	64078	broad.mit.edu	37	chr9	86924627	86924627	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtgacctgttcttcAtcctggaaatcaaacattgg	11	13	7	10	0	4	1	3	1	1	0	5	2	5	2	2	2	2	1	2	2	3	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:86924627A>T	uc010mpz.3	-	2	305	c.159T>A	c.(157-159)gaT>gaA	p.D53E	SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.D53E|SLC28A3_uc010mqb.3_5'UTR	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	53					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CCTGTTCTTCATCCTGGAAAT	0.428													T	86924627	A	T	86924627	3	4	135	1	0	0	0	0	1	0	0	0	14627	214	8	5	1980	5	SLC28A3	9	86924627	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	78535309	86924627	54288804	32	9118											
KIAA1958	158405	broad.mit.edu	37	chr9	115336719	115336719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccggaccagagactcttGtgacttctcctactgtagtg	9	12	9	11	1	2	2	0	1	2	1	3	4	2	3	3	1	2	1	3	1	3	5			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr9:115336719G>T	uc011lwx.1	+	1	534	c.359G>T	c.(358-360)tGt>tTt	p.C120F	KIAA1958_uc004bgf.1_Missense_Mutation_p.C120F	NM_133465	NP_597722	Q8N8K9	K1958_HUMAN	Homo sapiens KIAA1958 (KIAA1958), mRNA.	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAGACTCTTGTGACTTCTCC	0.473													T	115336719	G	T	115336719	3	4	135	1	0	0	0	0	1	0	0	0	8322	1377	48	4	361	4	KIAA1958	9	115336719	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	28412092	115336719	25876712	33	9119											
OR5AR1	219493	broad.mit.edu	37	chr11	56431364	56431364	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcctctgcaacctctcctTtgttgacctgggctactcct	4	16	6	15	0	2	1	0	1	2	0	5	1	4	1	5	1	3	3	5	1	2	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:56431364T>G	uc010rjm.2	+	0	203	c.203T>G	c.(202-204)tTt>tGt	p.F68C	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						AACCTCTCCTTTGTTGACCTG	0.463													G	56431364	T	G	56431364	3	3	135	1	0	0	0	0	1	0	0	0	11221	1841	64	5	205	5	OR5AR1	11	56431364	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		56431364	78575152	34	9120											
OSBP	5007	broad.mit.edu	37	chr11	59376014	59376014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcgttcgttgacctgtttGatcttttcattgctctcagc	4	18	8	11	2	3	2	2	2	2	0	6	2	3	2	1	0	2	5	1	0	0	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:59376014G>A	uc001noc.1	-	2	1245	c.765C>T	c.(763-765)atC>atT	p.I255I		NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	255					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		TGACCTGTTTGATCTTTTCAT	0.478													A	59376014	G	A	59376014	2	1	135	1	0	0	0	0	0	0	0	1	11349	1280	45	2		2	OSBP	11	59376014	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	2944650	59376014	75630502	35	9121											
CTSF	8722	broad.mit.edu	37	chr11	66333870	66333870	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagacggacaggcgccaccGggcttctgaggaccaaggag	12	3	15	11	3	1	2	0	1	1	1	1	5	1	5	3	5	0	1	3	5	2	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:66333870G>C	uc001oip.3	-	4	703	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	205					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGCCACCGGGCTTCTGAG	0.587													C	66333870	G	C	66333870	3	2	135	1	0	0	0	0	1	0	0	0	4067	1115	39	4	877	4	CTSF	11	66333870	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	6957856	66333870	68672646	36	9122											
WNT11	7481	broad.mit.edu	37	chr11	75907584	75907584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggaggagcagttccagcGcatgtcggcaaaggcccggc	10	5	15	11	3	0	0	0	0	0	0	2	2	1	2	2	5	2	4	2	5	2	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr11:75907584G>A	uc001oxe.3	-	1	385	c.262C>T	c.(262-264)Cgc>Tgc	p.R88C	WNT11_uc001oxf.1_Missense_Mutation_p.R88C	NM_004626	NP_004617	O96014	WNT11_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 11 (WNT11), mRNA.	88					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGTTCCAGCGCATGTCGGCA	0.632													A	75907584	G	A	75907584	3	1	135	1	0	0	0	0	1	0	0	0	17486	1087	38	1	818	1	WNT11	11	75907584	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	9573714	75907584	59098932	37	9123											
SLC2A14	144195	broad.mit.edu	37	chr12	7970576	7970576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccaatttcaaaacaggCcacaaagaccaagatagccc	16	6	7	12	0	1	2	1	0	0	2	2	2	2	2	4	2	2	0	4	2	6	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:7970576C>A	uc010sgh.2	-	8	1261	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	SLC2A14_uc001qtk.3_Missense_Mutation_p.A399S|SLC2A14_uc001qtl.3_Missense_Mutation_p.A376S|SLC2A14_uc001qtm.3_Missense_Mutation_p.A376S|SLC2A14_uc010sgg.2_Missense_Mutation_p.A290S|SLC2A14_uc001qtn.3_Missense_Mutation_p.A399S|SLC2A14_uc001qto.3_Missense_Mutation_p.A34S	NM_153449	NP_703150	Q8TDB8	GTR14_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 14 (SLC2A14), mRNA.	399					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)		TCAAAACAGGCCACAAAGACC	0.498													A	7970576	C	A	7970576	3	1	135	1	0	0	0	0	1	0	0	0	14637	739	26	4	375	4	SLC2A14	12	7970576	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		7970576	125881319	38	9124											
WIF1	11197	broad.mit.edu	37	chr12	65460443	65460443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacagttcactccataGaatccaggtgggcagatgca	11	10	10	10	0	2	2	2	0	0	2	4	2	4	2	2	2	1	3	2	2	2	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:65460443G>T	uc001ssk.3	-	5	1083	c.708C>A	c.(706-708)ttC>ttA	p.F236L		NM_007191	NP_009122	Q9Y5W5	WIF1_HUMAN	Homo sapiens WNT inhibitory factor 1 (WIF1), mRNA.	236	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity	p.G235E(1)		cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TCACTCCATAGAATCCAGGTG	0.373			T	HMGA2	pleomorphic salivary gland adenoma								T	65460443	G	T	65460443	3	4	135	1	0	0	0	0	1	0	0	0	17468	933	33	4	451	4	WIF1	12	65460443	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	57489867	65460443	68391452	39	9125											
TRHDE	283392	broad.mit.edu	37	chr12	72666917	72666917	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggccagtccggggaccaCgtcggcccagccgccgtcgg	4	4	17	16	6	0	0	0	0	0	0	3	1	1	1	6	6	1	0	6	6	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:72666917C>T	uc001sxa.3	+	0	389	c.359C>T	c.(358-360)aCg>aTg	p.T120M	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	120					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CCGGGGACCACGTCGGCCCAG	0.741													T	72666917	C	T	72666917	1	4	135	1	0	0	0	0	0	0	0	0	16580	536	19	1		1	TRHDE	12	72666917	Translation_Start_Site	SNP	C	TCGA-14-0871-01A-01W-0424-08	7206474	72666917	61184978	40	9126											
SCARB1	949	broad.mit.edu	37	chr12	125296422	125296422	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctcgcccctcaccttgctCagcccgttccacttgtccac	4	11	5	21	2	3	0	2	0	1	0	6	0	5	0	6	0	2	2	6	0	0	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:125296422C>T	uc001ugp.3	-	4	973	c.720G>A	c.(718-720)ctG>ctA	p.L240L	SCARB1_uc001ugm.4_Silent_p.L240L|SCARB1_uc001ugn.4_Silent_p.L240L|SCARB1_uc010tbd.2_Silent_p.L240L|SCARB1_uc001ugo.4_Silent_p.L240L	NM_001082959	NP_001076428	Q8WTV0	SCRB1_HUMAN	Homo sapiens scavenger receptor class B, member 1 (SCARB1), transcript variant 2, mRNA.	240					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	TCACCTTGCTCAGCCCGTTCC	0.652													T	125296422	C	T	125296422	2	4	135	1	0	0	0	0	0	0	0	1	13973	813	29	2		2	SCARB1	12	125296422	Silent	SNP	C	TCGA-14-0871-01A-01W-0424-08	52629505	125296422	8555473	41	9127											
TMEM132B	114795	broad.mit.edu	37	chr12	126138507	126138507	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaggagagagcagtccagGaatggttccaccgtggcaca	12	5	13	11	1	0	1	0	0	0	1	2	4	2	3	4	4	1	3	4	4	1	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr12:126138507G>T	uc001uhe.1	+	8	2496	c.2488G>T	c.(2488-2490)Gaa>Taa	p.E830*	TMEM132B_uc001uhf.1_Nonsense_Mutation_p.E342*	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	830						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGCAGTCCAGGAATGGTTCCA	0.488													T	126138507	G	T	126138507	4	4	135	1	0	0	0	0	0	1	0	0	16146	1175	41	4	2522	4	TMEM132B	12	126138507	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	842085	126138507	7713388	42	9128											
GPC6	10082	broad.mit.edu	37	chr13	94680086	94680086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaacaactactgtctcaAcgtcatgaagggctgcttgg	10	10	10	11	1	2	1	2	1	1	0	3	1	2	1	0	2	6	3	0	2	5	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr13:94680086A>G	uc001vlt.3	+	3	1447	c.815A>G	c.(814-816)aAc>aGc	p.N272S	GPC6_uc010tig.1_Missense_Mutation_p.N272S|5S_rRNA_uc021rli.1_5'Flank	NM_005708	NP_005699	Q9Y625	GPC6_HUMAN	Homo sapiens glypican 6 (GPC6), mRNA.	272						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TACTGTCTCAACGTCATGAAG	0.527													G	94680086	A	G	94680086	3	3	135	1	0	0	0	0	1	0	0	0	6656	43	2	3	829	3	GPC6	13	94680086	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08		94680086	20489792	43	9129											
FANCM	57697	broad.mit.edu	37	chr14	45620712	45620712	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagatcagtttaggaaaaAcccatctccgaatattgtgg	15	10	9	7	1	2	1	1	0	1	1	3	4	2	2	2	2	1	1	2	2	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:45620712A>T	uc001wwd.4	+	4	1130	c.1031A>T	c.(1030-1032)aAc>aTc	p.N344I	FANCM_uc001wwc.2_Missense_Mutation_p.N344I|FANCM_uc010anf.3_Missense_Mutation_p.N318I	NM_020937	NP_065988	Q8IYD8	FANCM_HUMAN	Homo sapiens Fanconi anemia, complementation group M (FANCM), mRNA.	344					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTTAGGAAAAACCCATCTCCG	0.318								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	45620712	A	T	45620712	3	4	135	1	0	0	0	0	1	0	0	0	5720	43	2	5	1049	5	FANCM	14	45620712	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08		45620712	61728828	44	9130											
ACTN1	87	broad.mit.edu	37	chr14	69349623	69349623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccattgatctcctgaggcgtGatggttgtgtaggggttggt	5	14	16	6	1	1	3	0	3	1	0	2	3	1	3	2	5	0	3	2	5	1	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:69349623G>A	uc001xkl.3	-	14	2095	c.1785C>T	c.(1783-1785)atC>atT	p.I595I	ACTN1_uc001xkk.3_Silent_p.I191I|ACTN1_uc010ttb.2_Silent_p.I530I|ACTN1_uc001xkm.3_Silent_p.I595I|ACTN1_uc001xkn.3_Silent_p.I595I|ACTN1_uc010ttc.2_Silent_p.I180I	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	595	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCTGAGGCGTGATGGTTGTGT	0.517													A	69349623	G	A	69349623	2	1	135	1	0	0	0	0	0	0	0	1	204	1280	45	2		2	ACTN1	14	69349623	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	23728911	69349623	37999917	45	9131											
DICER1	23405	broad.mit.edu	37	chr14	95557629	95557629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatggcaccagcaagcgacTcaaaaatatcccccatggcc	15	5	7	14	1	1	0	1	0	0	0	2	1	2	0	4	2	2	2	4	2	5	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr14:95557629T>C	uc001ydw.2	-	25	5650	c.5438A>G	c.(5437-5439)gAg>gGg	p.E1813G	DICER1_uc010avh.1_Missense_Mutation_p.E711G|DICER1_uc021sbc.1_Intron|DICER1_uc001ydv.2_Missense_Mutation_p.E1803G|DICER1_uc001ydx.2_Missense_Mutation_p.E1813G	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1813	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.E1813G(2)|p.E1813A(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AGCAAGCGACTCAAAAATATC	0.458			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				C	95557629	T	C	95557629	3	2	135	1	0	0	0	0	1	0	0	0	4560	1551	54	3	342	3	DICER1	14	95557629	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	26208006	95557629	11791911	46	9132											
NOX5	79400	broad.mit.edu	37	chr15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatgaaggccattggccTgcagatggcccttgacctcc	8	9	11	13	0	0	4	0	3	0	1	1	4	1	4	5	3	1	1	5	3	1	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:69347743T>A	uc002ars.2	+	14	2110	c.2069T>A	c.(2068-2070)cTg>cAg	p.L690Q	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Missense_Mutation_p.L644Q|NOX5_uc002arp.2_Missense_Mutation_p.L672Q|NOX5_uc010bid.2_Missense_Mutation_p.L655Q|NOX5_uc010bie.2_Missense_Mutation_p.L490Q|NOX5_uc002arr.2_Missense_Mutation_p.L662Q|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	690					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597													A	69347743	T	A	69347743	3	1	135	1	0	0	0	0	1	0	0	0	10635	1580	55	5	2160	5	NOX5	15	69347743	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		69347743	33183649	47	9133											
UNC45A	55898	broad.mit.edu	37	chr15	91488293	91488293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttgtgaaaactacatcaAgtaaggaagtctgtttcacc	14	12	7	8	0	3	1	2	1	1	0	3	2	3	2	1	1	2	2	1	1	6	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr15:91488293A>G	uc002bqg.3	+	9	1539	c.1199_splice	c.e9+1	p.K400_splice	UNC45A_uc002bqd.3_Splice_Site_p.K385_splice|UNC45A_uc010uqr.2_5'Flank	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	400					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			AACTACATCAAGTAAGGAAGT	0.478													G	91488293	A	G	91488293	3	3	135	1	0	0	0	0	1	0	0	0	17090	86	3	3	1233	3	UNC45A	15	91488293	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	22140550	91488293	11043099	48	9134											
SNX29	84127	broad.mit.edu	37	chr16	12145796	12145796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcagaactctggggacGtgtttaaaaagacacctggg	13	8	13	7	1	1	3	0	1	1	2	1	4	1	4	1	3	2	2	1	3	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:12145796G>A	uc002dby.4	+	7					SNX29_uc002dbw.2_Missense_Mutation_p.V281M	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.						cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTCTGGGGACGTGTTTAAAAA	0.483													A	12145796	G	A	12145796	3	1	135	1	0	0	0	0	1	0	0	0	14992	1145	40	1		1	SNX29	16	12145796	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		12145796	78208957	49	9135											
AKTIP	64400	broad.mit.edu	37	chr16	53528141	53528141	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactttacttttaaaaagctGaatatctttttcatacctgt	13	18	3	7	0	2	1	1	1	1	0	2	1	2	1	1	0	4	1	1	0	8	8			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:53528141G>A	uc002ehm.3	-	7	801	c.619C>T	c.(619-621)Cag>Tag	p.Q207*	AKTIP_uc002ehk.3_Nonsense_Mutation_p.Q207*|AKTIP_uc002ehl.3_Nonsense_Mutation_p.Q207*	NM_022476	NP_071921	Q9H8T0	AKTIP_HUMAN	Homo sapiens AKT interacting protein (AKTIP), transcript variant 2, mRNA.	207					apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TTAAAAAGCTGAATATCTTTT	0.308													A	53528141	G	A	53528141	4	1	135	1	0	0	0	0	0	1	0	0	482	1299	45	2	271	2	AKTIP	16	53528141	Nonsense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	41382345	53528141	36826612	50	9136											
CDH16	1014	broad.mit.edu	37	chr16	66946227	66946227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtctcccctctcaatgGcaaaatccatgaggcggaag	10	9	10	12	1	2	1	1	1	2	0	5	2	3	2	3	3	0	1	3	3	4	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:66946227G>A	uc002eql.3	-	11	1660	c.1466C>T	c.(1465-1467)gCc>gTc	p.A489V	CDH16_uc010cdy.3_Missense_Mutation_p.A489V|CDH16_uc021tjx.1_Missense_Mutation_p.A489V|CDH16_uc002eqm.3_Missense_Mutation_p.A392V	NM_004062	NP_004053	O75309	CAD16_HUMAN	Homo sapiens cadherin 16, KSP-cadherin (CDH16), transcript variant 1, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTCTCAATGGCAAAATCCAT	0.577													A	66946227	G	A	66946227	3	1	135	1	0	0	0	0	1	0	0	0	3131	1203	42	2	1051	2	CDH16	16	66946227	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	13418086	66946227	23408526	51	9137											
WWP2	11060	broad.mit.edu	37	chr16	69973830	69973830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgaggagaccgagggctTtggacaggagtaaccgaggc	11	6	16	8	2	0	2	0	1	0	1	0	7	0	4	2	5	1	2	2	5	1	3			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr16:69973830T>C	uc002exu.1	+	24	2689	c.2600T>C	c.(2599-2601)tTt>tCt	p.F867S	WWP2_uc002exv.1_Missense_Mutation_p.F867S|WWP2_uc010vlm.1_Missense_Mutation_p.F751S|WWP2_uc010vln.1_Missense_Mutation_p.F485S|WWP2_uc002exw.1_Missense_Mutation_p.F428S	NM_007014	NP_008945	O00308	WWP2_HUMAN	Homo sapiens WW domain containing E3 ubiquitin protein ligase 2 (WWP2), transcript variant 1, mRNA.	867	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCGAGGGCTTTGGACAGGAG	0.612													C	69973830	T	C	69973830	3	2	135	1	0	0	0	0	1	0	0	0	17518	1841	64	3	2694	3	WWP2	16	69973830	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08	3027603	69973830	20380923	52	9138											
TP53	7157	broad.mit.edu	37	chr17	7577035	7577036	+	Frame_Shift_Ins	INS	-	-	G																															tacctcgcttagtgctccctINSgggggcagctcgtggtgagg																								rs72661120		TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:7577035_7577036insG	uc002gim.2	-	7	1096_1097	c.902_903insC	c.(901-903)ccafs	p.P301fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Ins_p.P301fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cnf.1_Frame_Shift_Ins_p.P169fs|TP53_uc002gii.1_Frame_Shift_Ins_p.P169fs|TP53_uc010cni.1_Frame_Shift_Ins_p.P301fs|TP53_uc010cnh.1_Frame_Shift_Ins_p.P301fs|TP53_uc002gij.2_Frame_Shift_Ins_p.P301fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	301	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P301fs*44(11)|p.0?(8)|p.P300L(6)|p.G302fs*4(5)|p.P301fs*5(4)|p.P301P(4)|p.P301S(3)|p.P300S(3)|p.?(3)|p.P300A(2)|p.H296_S303delHHELPPGS(2)|p.P301_S303delPGS(2)|p.L265_K305del41(2)|p.P301Q(2)|p.P301L(2)|p.E298_P301delELPP(2)|p.P300P(1)|p.P300fs*44(1)|p.P300R(1)|p.G293fs*1(1)|p.P300fs*6(1)|p.L299fs*2(1)|p.P301fs*45(1)|p.P301fs*?(1)|p.P301T(1)|p.P301A(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)		TAGTGCTCCCTGGGGGCAGCTC	0.559		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)			G	7577036	-	G	7577035	7	5	135	1	0	1	1	0	0	0	0	0	16482	1567	55	0	383	0	TP53	17	7577035	Frame_Shift_Ins	INS	-	TCGA-14-0871-01A-01W-0424-08		7577035	73618175	53	9139											
NF1	4763	broad.mit.edu	37	chr17	29557336	29557336	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataaaaacgaaactgtgtCaattagttgaagtaatgatg	19	11	8	3	1	1	2	1	2	0	0	1	3	1	2	0	0	2	2	0	0	9	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:29557336C>T	uc002hgg.3	+	22	3432	c.3049C>T	c.(3049-3051)Caa>Taa	p.Q1017*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1017*|NF1_uc010csn.2_Nonsense_Mutation_p.Q877*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q50*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1017					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Q1017*(2)|p.C1016fs*4(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAACTGTGTCAATTAGTTGA	0.338			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29557336	C	T	29557336	4	4	135	1	0	0	0	0	0	1	0	0	10432	827	29	2	3200	2	NF1	17	29557336	Nonsense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	21980301	29557336	51637874	54	9140											
GAS2L2	246176	broad.mit.edu	37	chr17	34072639	34072639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagggatgaccccagacCttgtgccctgcggacaggca	8	6	14	13	2	0	2	0	1	0	1	0	5	0	4	4	3	3	1	4	3	0	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:34072639C>G	uc002hjv.2	-	5	1905	c.1877G>C	c.(1876-1878)aGg>aCg	p.R626T		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	626					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GACCCCAGACCTTGTGCCCTG	0.582													G	34072639	C	G	34072639	3	3	135	1	0	0	0	0	1	0	0	0	6301	681	24	4	769	4	GAS2L2	17	34072639	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	4515303	34072639	47122571	55	9141											
TUBG2	27175	broad.mit.edu	37	chr17	40817702	40817702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcctgtccccaggtgtccAccatcatgtcggccagcacc	7	7	9	18	2	1	0	1	0	0	0	4	0	3	0	7	2	1	1	7	2	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40817702A>G	uc010wgr.2	+	7	956	c.700A>G	c.(700-702)Acc>Gcc	p.T234A	TUBG2_uc002iap.3_Missense_Mutation_p.T81A	NM_016437	NP_057521	Q9NRH3	TBG2_HUMAN	Homo sapiens tubulin, gamma 2 (TUBG2), mRNA.	234					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		CCAGGTGTCCACCATCATGTC	0.637													G	40817702	A	G	40817702	3	3	135	1	0	0	0	0	1	0	0	0	16867	159	6	3	730	3	TUBG2	17	40817702	Missense_Mutation	SNP	A	TCGA-14-0871-01A-01W-0424-08	6745063	40817702	40377508	56	9142											
WNK4	65266	broad.mit.edu	37	chr17	40939868	40939868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctgcccttcagccccCtgggggggtgccatccagcc	5	6	12	18	0	1	1	1	0	0	1	2	1	2	1	7	3	4	0	7	3	0	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr17:40939868C>A	uc002ibj.3	+	7	1882	c.1814C>A	c.(1813-1815)cCt>cAt	p.P605H	WNK4_uc010wgx.2_Missense_Mutation_p.P269H|WNK4_uc002ibk.1_Missense_Mutation_p.P377H|WNK4_uc010wgy.1_Intron	NM_032387	NP_115763	Q96J92	WNK4_HUMAN	Homo sapiens WNK lysine deficient protein kinase 4 (WNK4), mRNA.	605					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity	p.L605I(1)		NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTTCAGCCCCCTGGGGGGGTG	0.632													A	40939868	C	A	40939868	3	1	135	1	0	0	0	0	1	0	0	0	17482	681	24	4	1844	4	WNK4	17	40939868	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	122166	40939868	40255342	57	9143											
C18orf34	374864	broad.mit.edu	37	chr18	30873224	30873224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattagtattaacatttaTcactgatgaagagtaatgat	17	15	6	3	0	1	4	1	3	0	1	1	4	1	4	0	0	1	2	0	0	8	7			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr18:30873224T>A	uc010xbr.1	-	10	1217	c.1075A>T	c.(1075-1077)Ata>Tta	p.I359L	C18orf34_uc002kxn.2_Missense_Mutation_p.I359L|C18orf34_uc010dmf.1_Intron|C18orf34_uc002kxo.2_Missense_Mutation_p.I359L|C18orf34_uc002kxp.3_Missense_Mutation_p.I359L	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	359										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TTAACATTTATCACTGATGAA	0.279													A	30873224	T	A	30873224	3	1	135	1	0	0	0	0	1	0	0	0	1920	1435	50	5	1576	5	C18orf34	18	30873224	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		30873224	47204024	58	9144											
WDR88	126248	broad.mit.edu	37	chr19	33651345	33651345	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcatttctggagggttTgataggactgtggctatttg	6	18	12	5	0	2	1	1	1	2	0	3	3	2	3	0	4	0	2	0	4	2	6			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:33651345T>A	uc002nui.3	+	7	1101	c.1023T>A	c.(1021-1023)ttT>ttA	p.F341L		NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	341										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					CTGGAGGGTTTGATAGGACTG	0.493													A	33651345	T	A	33651345	3	1	135	1	0	0	0	0	1	0	0	0	17437	1809	63	5	1053	5	WDR88	19	33651345	Missense_Mutation	SNP	T	TCGA-14-0871-01A-01W-0424-08		33651345	25477638	59	9145											
KCTD15	79047	broad.mit.edu	37	chr19	34292103	34292103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtcccggctgtctctcaCccggtcgcctgtgtctcccc	2	11	9	19	3	3	0	1	0	2	0	7	0	4	0	5	2	0	1	5	2	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:34292103C>T	uc002nuy.4	+	3	366	c.98C>T	c.(97-99)aCc>aTc	p.T33I	KCTD15_uc002nuv.3_Missense_Mutation_p.T33I|KCTD15_uc002nuw.4_Missense_Mutation_p.T33I|KCTD15_uc010xrt.2_Missense_Mutation_p.T33I|KCTD15_uc002nux.4_Missense_Mutation_p.T33I	NM_001129994	NP_001123467	Q96SI1	KCD15_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 15 (KCTD15), transcript variant 2, mRNA.	33						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(1)|lung(2)|pancreas(1)|urinary_tract(1)	5	Esophageal squamous(110;0.162)					CTGTCTCTCACCCGGTCGCCT	0.582													T	34292103	C	T	34292103	3	4	135	1	0	0	0	0	1	0	0	0	8160	507	18	2	104	2	KCTD15	19	34292103	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08	640758	34292103	24836880	60	9146											
ZNF470	388566	broad.mit.edu	37	chr19	57088457	57088457	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtgaaaaaacacaagcaAgaccgtggagaaaagaaact	20	5	10	6	1	0	4	0	1	0	3	0	5	0	4	1	1	3	2	1	1	8	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:57088457A>G	uc002qnl.4	+	5	1336	c.660A>G	c.(658-660)caA>caG	p.Q220Q	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AACACAAGCAAGACCGTGGAG	0.308													G	57088457	A	G	57088457	2	3	135	1	0	0	0	0	0	0	0	1	18030	69	3	3		3	ZNF470	19	57088457	Silent	SNP	A	TCGA-14-0871-01A-01W-0424-08	22796354	57088457	2040526	61	9147											
ZNF324	25799	broad.mit.edu	37	chr19	58983498	58983498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgggcccagccgccGtctcgcagccagcggaggtc	4	4	14	19	6	1	0	0	0	1	0	4	1	1	1	6	3	3	1	6	3	0	0			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr19:58983498G>A	uc002qsw.2	+	3	1784	c.1639G>A	c.(1639-1641)Gtc>Atc	p.V547I		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCAGCCGCCGTCTCGCAGCC	0.652													A	58983498	G	A	58983498	3	1	135	1	0	0	0	0	1	0	0	0	17945	1145	40	1	1649	1	ZNF324	19	58983498	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08	1895041	58983498	145485	62	9148											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047750	46047750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccagccggcttgctgcaCcacctcctgctgcagaccct	5	8	9	19	1	0	1	0	0	0	1	1	1	1	1	6	1	6	5	6	1	0	1			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chr21:46047750C>A	uc002zfp.4	+	0	711	c.662C>A	c.(661-663)aCc>aAc	p.T221N	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198690	NP_941963	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-9 (KRTAP10-9), mRNA.	221	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						GCTTGCTGCACCACCTCCTGC	0.657													A	46047750	C	A	46047750	3	1	135	1	0	0	0	0	1	0	0	0	8574	507	18	4	664	4	KRTAP10-9	21	46047750	Missense_Mutation	SNP	C	TCGA-14-0871-01A-01W-0424-08		46047750	2082145	63	9149											
NUP62CL	54830	broad.mit.edu	37	chrX	106397360	106397360	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcaatgtatggtcccaaGcattgacctgagtggcctgg	10	10	11	10	0	1	2	1	2	0	0	2	2	2	2	3	3	1	2	3	3	4	2			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:106397360G>C	uc004ena.3	-	4	570	c.311C>G	c.(310-312)gCt>gGt	p.A104G	NUP62CL_uc004enb.3_Intron	NM_017681	NP_060151	Q9H1M0	N62CL_HUMAN	Homo sapiens nucleoporin 62kDa C-terminal like (NUP62CL), transcript variant 1, mRNA.	104					protein transport	nuclear pore	structural constituent of nuclear pore			lung(4)	4						ATGGTCCCAAGCATTGACCTG	0.388													C	106397360	G	C	106397360	3	2	135	1	0	0	0	0	1	0	0	0	10845	971	34	4	259	4	NUP62CL	23	106397360	Missense_Mutation	SNP	G	TCGA-14-0871-01A-01W-0424-08		106397360	48873200	64	9150											
UBE2NL	389898	broad.mit.edu	37	chrX	142967486	142967487	+	Missense_Mutation	DNP	AG	AG	TA																															tttagatattttgaaagataAgtggtccccagccctgcaga																										TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:142967486_142967487AG>TA	uc004fca.3	+	0	314_315	c.284_285AG>TA	c.(283-285)aag>aTA	p.K95I		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	95							acid-amino acid ligase activity	p.K95*(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TTGAAAGATAAGTGGTCCCCAG	0.421													TA	142967487	AG	TA	142967486	3	4	135	1	0	0	0	0	1	0	0	0	16969	72	3	5	286	5	UBE2NL	23	142967486	Missense_Mutation	DNP	AG	TCGA-14-0871-01A-01W-0424-08	36570126	142967486	12303074	65	9151											
GABRQ	55879	broad.mit.edu	37	chrX	151808911	151808911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagatacgatgtccgcctGagaccgaattttggaggtaa	12	10	11	8	3	1	2	1	1	0	2	2	6	2	3	3	2	1	1	3	2	4	4			TCGA-14-0871-01A-01W-0424-08	TCGA-14-0871-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0cc45f48-0967-42dc-8035-e76c6bd0a3fd	7b4f35d6-c654-4632-9738-9e80fc483b97	g.chrX:151808911G>A	uc004ffp.1	+	1	242	c.222G>A	c.(220-222)ctG>ctA	p.L74L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	74						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTCCGCCTGAGACCGAATT	0.463													A	151808911	G	A	151808911	2	1	135	1	0	0	0	0	0	0	0	1	6227	1277	45	2		2	GABRQ	23	151808911	Silent	SNP	G	TCGA-14-0871-01A-01W-0424-08	8841425	151808911	3461649	66	9152											
MPL	4352	broad.mit.edu	37	chr1	43804269	43804269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgccccactttggaacccGatacgtgtgccagtttccag	8	10	9	14	2	0	0	0	0	0	0	1	2	1	1	5	1	4	1	5	1	2	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:43804269G>A	uc001ciw.3	+	2	314	c.269G>A	c.(268-270)cGa>cAa	p.R90Q	MPL_uc001civ.3_Missense_Mutation_p.R90Q|MPL_uc009vwr.3_Missense_Mutation_p.R83Q	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	90					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTTGGAACCCGATACGTGTGC	0.572			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						A	43804269	G	A	43804269	3	1	136	1	0	0	0	0	1	0	0	0	9806	1058	37	1	279	1	MPL	1	43804269	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		43804269	205446352	1	9153											
SPTA1	6708	broad.mit.edu	37	chr1	158617395	158617395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccttacgatcctttgtaCgcccctgcaggtcttcccag	5	13	7	16	2	2	0	0	0	2	0	5	1	4	0	5	1	3	2	5	1	2	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:158617395C>T	uc001fst.1	-	26	4029	c.3830G>A	c.(3829-3831)cGt>cAt	p.R1277H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1277					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1277L(4)|p.R1277H(2)|p.R1277C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCCTTTGTACGCCCCTGCAG	0.557													T	158617395	C	T	158617395	3	4	136	1	0	0	0	0	1	0	0	0	15212	536	19	1	3533	1	SPTA1	1	158617395	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	114813126	158617395	90633226	2	9154											
CEP350	9857	broad.mit.edu	37	chr1	179989186	179989186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaacagctggaagtttactCtcccatctcttgagtttaga	10	13	9	9	0	2	2	0	1	2	1	4	4	2	4	1	2	3	3	1	2	4	5			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr1:179989186C>G	uc001gnt.3	+	11	2660	c.2277C>G	c.(2275-2277)ctC>ctG	p.L759L	CEP350_uc009wxl.2_Silent_p.L758L|CEP350_uc001gnu.3_Silent_p.L593L	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	759						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTTTACTCTCCCATCTCT	0.403													G	179989186	C	G	179989186	2	3	136	1	0	0	0	0	0	0	0	1	3284	900	32	4		4	CEP350	1	179989186	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08	21371791	179989186	69261435	3	9155											
CAMKV	79012	broad.mit.edu	37	chr3	49896857	49896857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctggggctgtgctgtccGgctgggccatagccggctca	3	9	15	14	2	2	0	1	0	1	0	3	0	3	0	4	5	2	4	4	5	1	1			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:49896857G>T	uc003cxt.1	-	10	1593	c.1400C>A	c.(1399-1401)cCg>cAg	p.P467Q	TRAIP_uc003cxs.1_5'Flank|TRAIP_uc010hla.1_5'Flank|TRAIP_uc011bcx.2_5'Flank|CAMKV_uc011bcy.1_Missense_Mutation_p.P392Q|CAMKV_uc003cxv.1_Missense_Mutation_p.P439Q|CAMKV_uc003cxw.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxx.1_Missense_Mutation_p.P299Q|CAMKV_uc003cxu.2_Missense_Mutation_p.P436Q|CAMKV_uc011bcz.1_Missense_Mutation_p.P399Q|CAMKV_uc011bda.1_Missense_Mutation_p.P393Q	NM_024046	NP_076951	Q8NCB2	CAMKV_HUMAN	Homo sapiens CaM kinase-like vesicle-associated (CAMKV), mRNA.	467	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGTGCTGTCCGGCTGGGCCAT	0.652													T	49896857	G	T	49896857	3	4	136	1	0	0	0	0	1	0	0	0	2634	1116	39	4	109	4	CAMKV	3	49896857	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		49896857	148125573	4	9156											
C3orf26	84319	broad.mit.edu	37	chr3	99891168	99891168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttggaacaggtccaggcGcaggtaaagttgctggagaa	12	8	14	7	1	1	1	0	0	1	1	2	3	2	2	1	5	2	4	1	5	4	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:99891168G>A	uc003dtl.3	+	7	734	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C3orf26_uc021xbt.1_Silent_p.A178A	NM_032359	NP_115735	Q9BQ75	CC026_HUMAN	Homo sapiens chromosome 3 open reading frame 26 (C3orf26), transcript variant 1, mRNA.	196							ATP binding|ATP-dependent helicase activity|nucleic acid binding			large_intestine(4)|lung(5)|ovary(1)|skin(2)|urinary_tract(2)	14						AGGTCCAGGCGCAGGTAAAGT	0.413													A	99891168	G	A	99891168	2	1	136	1	0	0	0	0	0	0	0	1	2239	1074	38	1		1	C3orf26	3	99891168	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08	49994311	99891168	98131262	5	9157											
FXR1	8087	broad.mit.edu	37	chr3	180651171	180651172	+	Frame_Shift_Del	DEL	AT	AT	-																															ccttacagttgtttttgaaaAtaagtaagttatttttgttg																										TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr3:180651171_180651172delAT	uc003fkq.3	+	1	341_342	c.101_102delAT	c.(100-102)aatfs	p.N34fs	FXR1_uc003fkp.3_5'UTR|FXR1_uc003fkr.3_Frame_Shift_Del_p.N34fs|FXR1_uc011bqj.2_Intron|FXR1_uc003fks.3_5'UTR|FXR1_uc011bqk.2_Intron|FXR1_uc011bql.2_Frame_Shift_Del_p.N21fs	NM_005087	NP_001013457	P51114	FXR1_HUMAN	Homo sapiens fragile X mental retardation, autosomal homolog 1 (FXR1), transcript variant 1, mRNA.	34					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			GTTTTTGAAAATAAGTAAGTTA	0.332													-	180651172	AT	-	180651171	7	5	136	1	0	1	0	1	0	0	0	0	6167	101	4	0	107	0	FXR1	3	180651171	Frame_Shift_Del	DEL	AT	TCGA-14-1043-01B-11D-1845-08	80760003	180651171	17371259	6	9158											
RICTOR	253260	broad.mit.edu	37	chr5	38950386	38950386	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgattctctgtaccaaaAttcttggtgaattttaagtc	10	17	7	7	0	2	2	0	2	2	0	4	2	2	2	1	1	1	1	1	1	5	6			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:38950386A>C	uc003jlo.2	-	30	3586	c.3564T>G	c.(3562-3564)aaT>aaG	p.N1188K	RICTOR_uc003jlp.2_Missense_Mutation_p.N1188K|RICTOR_uc010ivf.2_Missense_Mutation_p.N903K	NM_152756	NP_689969	Q6R327	RICTR_HUMAN	Homo sapiens RPTOR independent companion of MTOR, complex 2 (RICTOR), mRNA.	1188					actin cytoskeleton reorganization|embryo development|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|regulation of protein kinase B signaling cascade|T cell costimulation	cytosol|TORC2 complex	protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|prostate(3)|skin(5)	75	all_lung(31;0.000396)					CTGTACCAAAATTCTTGGTGA	0.358													C	38950386	A	C	38950386	3	2	136	1	0	0	0	0	1	0	0	0	13447	98	4	5	1594	5	RICTOR	5	38950386	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08		38950386	141964874	7	9159											
SV2C	22987	broad.mit.edu	37	chr5	75427791	75427791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgaggccaacgatgaCgaaggctcaagtgaagccac	14	5	13	9	2	1	3	1	3	0	0	1	5	1	3	2	3	2	1	2	3	5	0			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:75427791C>T	uc003kei.1	+	1	350	c.216C>T	c.(214-216)gaC>gaT	p.D72D		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	72					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D72D(2)		NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CCAACGATGACGAAGGCTCAA	0.498													T	75427791	C	T	75427791	2	4	136	1	0	0	0	0	0	0	0	1	15515	535	19	1		1	SV2C	5	75427791	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08	36477405	75427791	105487469	8	9160											
ARRDC3	57561	broad.mit.edu	37	chr5	90671379	90671379	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaaggatattgggcctgAggtacagaaccagcaacaga	15	7	11	8	0	0	3	0	1	0	2	0	4	0	4	2	3	4	2	2	3	5	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:90671379A>C	uc003kjz.2	-	3	802	c.562T>G	c.(562-564)Tca>Gca	p.S188A		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	188					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ATTGGGCCTGAGGTACAGAAC	0.398													C	90671379	A	C	90671379	3	2	136	1	0	0	0	0	1	0	0	0	989	304	11	5	702	5	ARRDC3	5	90671379	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	15243588	90671379	90243881	9	9161											
CDC23	8697	broad.mit.edu	37	chr5	137524677	137524677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagccaactatggcgtgAcagaagacaagttgagtgga	14	7	14	6	1	0	4	0	2	0	2	0	6	0	5	1	2	2	2	1	2	5	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:137524677A>G	uc003lcl.3	-	15	1815	c.1784T>C	c.(1783-1785)gTc>gCc	p.V595A		NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	595					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTATGGCGTGACAGAAGACAA	0.493													G	137524677	A	G	137524677	3	3	136	1	0	0	0	0	1	0	0	0	3091	275	10	3	13	3	CDC23	5	137524677	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	46853298	137524677	43390583	10	9162											
JAKMIP2	9832	broad.mit.edu	37	chr5	147012259	147012259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacttctagctctaggtttCgaaactccagcagctcattc	9	14	6	12	1	3	0	1	0	2	0	6	1	4	0	1	1	5	4	1	1	4	6			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr5:147012259C>T	uc010jgo.1	-	11	1908	c.1760G>A	c.(1759-1761)cGa>cAa	p.R587Q	JAKMIP2_uc003loq.1_Missense_Mutation_p.R587Q|JAKMIP2_uc011dbx.1_Missense_Mutation_p.R545Q|JAKMIP2_uc003lor.1_Missense_Mutation_p.R566Q|LOC153469_uc003lop.1_Intron	NM_014790	NP_055605	Q96AA8	JKIP2_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 2 (JAKMIP2), mRNA.	587						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTAGGTTTCGAAACTCCAG	0.388													T	147012259	C	T	147012259	3	4	136	1	0	0	0	0	1	0	0	0	7999	884	31	1	708	1	JAKMIP2	5	147012259	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	9487582	147012259	33903001	11	9163											
COL12A1	1303	broad.mit.edu	37	chr6	75866132	75866132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccctctcccatgagggcGatagacaacacggtagttga	10	9	10	12	2	1	3	0	2	1	1	3	4	2	3	2	2	1	2	2	2	3	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:75866132G>A	uc021zbv.1	-	13	3126	c.3091C>T	c.(3091-3093)Cgc>Tgc	p.R1031C	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.R1031C|COL12A1_uc003pht.3_Intron	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1031	Fibronectin type-III 7.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CCATGAGGGCGATAGACAACA	0.473													A	75866132	G	A	75866132	3	1	136	1	0	0	0	0	1	0	0	0	3700	1058	37	1	6308	1	COL12A1	6	75866132	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08		75866132	95248935	12	9164											
CASP8AP2	9994	broad.mit.edu	37	chr6	90578080	90578080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatctaacgaaagatccaGtcactgaaaccaaaaacttg	18	8	6	9	1	2	3	1	1	1	2	3	4	3	3	2	0	3	0	2	0	6	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr6:90578080G>A	uc003pnr.3	+	7	5267	c.5071G>A	c.(5071-5073)Gtc>Atc	p.V1691I	CASP8AP2_uc003pns.2_Intron|CASP8AP2_uc003pnt.3_Missense_Mutation_p.V1691I|CASP8AP2_uc011dzz.2_Missense_Mutation_p.V1691I	NM_001137667	NP_001131139	Q9UKL3	C8AP2_HUMAN	Homo sapiens caspase 8 associated protein 2 (CASP8AP2), transcript variant 2, mRNA.	1691					cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		GAAAGATCCAGTCACTGAAAC	0.388													A	90578080	G	A	90578080	3	1	136	1	0	0	0	0	1	0	0	0	2704	1029	36	2	5097	2	CASP8AP2	6	90578080	Missense_Mutation	SNP	G	TCGA-14-1043-01B-11D-1845-08	14711948	90578080	80536987	13	9165											
PEX1	5189	broad.mit.edu	37	chr7	92147239	92147239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccataactatgaagttttTtatattcagcatcagctttt	11	19	4	7	0	2	1	2	1	0	0	3	1	3	1	1	0	3	3	1	0	5	10			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr7:92147239T>C	uc003uly.3	-	4	686	c.590A>G	c.(589-591)aAa>aGa	p.K197R	PEX1_uc011khr.2_5'UTR|PEX1_uc010ley.3_Missense_Mutation_p.K197R|PEX1_uc011khs.2_Intron|PEX1_uc011kht.1_Non-coding_Transcript	NM_000466	NP_000457	O43933	PEX1_HUMAN	Homo sapiens peroxisomal biogenesis factor 1 (PEX1), mRNA.	197					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATGAAGTTTTTTATATTCAGC	0.388													C	92147239	T	C	92147239	3	2	136	1	0	0	0	0	1	0	0	0	11812	1841	64	3	3341	3	PEX1	7	92147239	Missense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		92147239	66991424	14	9166											
KIF12	113220	broad.mit.edu	37	chr9	116858751	116858751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggctgagttccttcgacgGctgagacctggaagggaaaa	10	8	15	8	2	0	2	0	2	0	1	2	6	1	4	2	4	0	3	2	4	3	2			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr9:116858751G>A	uc004bif.3	-	4	478	c.240C>T	c.(238-240)agC>agT	p.S80S	KIF12_uc004big.3_Non-coding_Transcript	NM_138424	NP_612433	Q96FN5	KIF12_HUMAN	Homo sapiens kinesin family member 12 (KIF12), mRNA.	213	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						TCCTTCGACGGCTGAGAcctg	0.547													A	116858751	G	A	116858751	2	1	136	1	0	0	0	0	0	0	0	1	8331	1194	42	2		2	KIF12	9	116858751	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		116858751	24354680	15	9167											
OR5F1	338674	broad.mit.edu	37	chr11	55761884	55761884	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggggtgatggtagttgagTtacaaacgtccacaaaggac	12	10	13	6	1	0	2	0	2	0	0	1	3	1	3	1	4	2	3	1	4	4	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr11:55761884T>G	uc010riv.2	-	0	218	c.218A>C	c.(217-219)aAc>aCc	p.N73T		NM_003697	NP_003688	O95221	OR5F1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily F, member 1 (OR5F1), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					GGTAGTTGAGTTACAAACGTC	0.443													G	55761884	T	G	55761884	3	3	136	1	0	0	0	0	1	0	0	0	11234	1725	60	5	729	5	OR5F1	11	55761884	Missense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		55761884	79244632	16	9168											
RFX4	5992	broad.mit.edu	37	chr12	107048021	107048021	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggctggaggagaactaTgagattgcagagggggtctg	10	8	17	6	0	1	3	0	1	1	3	1	6	1	4	1	5	2	2	1	5	3	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr12:107048021T>G	uc001tlt.3	+	3	374	c.234T>G	c.(232-234)taT>taG	p.Y78*	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Nonsense_Mutation_p.Y69*|RFX4_uc010swv.2_Non-coding_Transcript|RFX4_uc001tls.3_Nonsense_Mutation_p.Y78*	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	69					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						AGGAGAACTATGAGATTGCAG	0.488													G	107048021	T	G	107048021	4	3	136	1	0	0	0	0	0	1	0	0	13353	1471	51	5	295	5	RFX4	12	107048021	Nonsense_Mutation	SNP	T	TCGA-14-1043-01B-11D-1845-08		107048021	26803874	17	9169											
NEIL1	79661	broad.mit.edu	37	chr15	75641495	75641495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcttcggcatgtccggCtcttttcagctggtgccccg	2	13	11	15	4	2	0	1	0	1	0	5	0	4	0	4	3	2	4	4	3	0	4			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr15:75641495C>T	uc002bae.3	+	1	660	c.507C>T	c.(505-507)ggC>ggT	p.G169G	NEIL1_uc002bad.3_Silent_p.G83G	NM_024608	NP_078884	Q96FI4	NEIL1_HUMAN	Homo sapiens nei endonuclease VIII-like 1 (E. coli) (NEIL1), mRNA.	83					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCATGTCCGGCTCTTTTCAGC	0.687								Base excision repair (BER), DNA glycosylases					T	75641495	C	T	75641495	2	4	136	1	0	0	0	0	0	0	0	1	10394	784	28	2		2	NEIL1	15	75641495	Silent	SNP	C	TCGA-14-1043-01B-11D-1845-08		75641495	26889897	18	9170											
CAMKK1	84254	broad.mit.edu	37	chr17	3779538	3779538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccactgaagctctggccGgaatcagaaatggcctcggg	9	8	12	12	2	2	2	1	1	1	1	4	3	3	3	3	4	1	1	3	4	3	1			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:3779538G>A	uc002fwv.3	-	10	1237	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	CAMKK1_uc002fwt.3_Silent_p.S325S|CAMKK1_uc002fwu.3_Silent_p.S325S	NM_172207	NP_757344	Q8N5S9	KKCC1_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase kinase 1, alpha (CAMKK1), transcript variant 3, mRNA.	325	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		AGCTCTGGCCGGAATCAGAAA	0.622													A	3779538	G	A	3779538	2	1	136	1	0	0	0	0	0	0	0	1	2632	1103	39	1		1	CAMKK1	17	3779538	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		3779538	77415672	19	9171											
NF1	4763	broad.mit.edu	37	chr17	29560133	29560133	+	Frame_Shift_Del	DEL	C	C	-																															cagaaacagtattggctgatCggtttgagagattggtggaa																										TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29560133delC	uc002hgg.3	+	26	3993	c.3610delC	c.(3610-3612)cggfs	p.R1204fs	NF1_uc002hgh.3_Frame_Shift_Del_p.R1204fs|NF1_uc010csn.2_Frame_Shift_Del_p.R1064fs|NF1_uc002hgi.1_Frame_Shift_Del_p.R237fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1204			R -> G (in NF1).|R -> W (in NF1).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.R1204W(2)|p.G1190fs*1(1)|p.D1203H(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTGGCTGATCGGTTTGAGAG	0.453			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29560133	C	-	29560133	7	5	136	1	0	1	0	1	0	0	0	0	10432	875	31	0	3777	0	NF1	17	29560133	Frame_Shift_Del	DEL	C	TCGA-14-1043-01B-11D-1845-08	25780595	29560133	51635077	20	9172											
NF1	4763	broad.mit.edu	37	chr17	29661945	29661945	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcataatgatgatgccaaaCgacaaagagttactgctatt	16	10	8	7	1	0	3	0	2	0	1	0	4	0	3	1	0	5	3	1	0	5	4	rs137854552		TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:29661945C>T	uc002hgg.3	+	39	6285	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1947*|NF1_uc010cso.3_Nonsense_Mutation_p.R156*|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1968					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R1968*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGATGCCAAACGACAAAGAGT	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29661945	C	T	29661945	4	4	136	1	0	0	0	0	0	1	0	0	10432	528	19	1	6121	1	NF1	17	29661945	Nonsense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	101812	29661945	51533265	21	9173											
HOXB8	3218	broad.mit.edu	37	chr17	46692020	46692020	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aattggggcgcagggactccCcggttttgtatttggagaac	8	11	14	8	2	0	1	0	0	0	1	1	3	1	2	2	5	1	3	2	5	3	5			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr17:46692020C>G	uc002inw.3	-	0	282	c.47G>C	c.(46-48)gGg>gCg	p.G16A		NM_024016	NP_076921	P17481	HXB8_HUMAN	Homo sapiens homeobox B8 (HOXB8), mRNA.	16						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CAGGGACTCCCCGGTTTTGTA	0.587													G	46692020	C	G	46692020	3	3	136	1	0	0	0	0	1	0	0	0	7362	623	22	4	692	4	HOXB8	17	46692020	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08	17030075	46692020	34503190	22	9174											
MUC16	94025	broad.mit.edu	37	chr19	9062384	9062384	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaatggaggtcctcacgttGgtcactgctgtgtgtgtgga	7	12	15	7	1	2	0	2	0	0	0	3	3	3	2	1	4	1	2	1	4	1	1			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:9062384G>T	uc002mkp.3	-	2	25266	c.25062C>A	c.(25060-25062)acC>acA	p.T8354T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8356	Ser-rich.|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						TCCTCACGTTGGTCACTGCTG	0.488													T	9062384	G	T	9062384	2	4	136	1	0	0	0	0	0	0	0	1	10049	1335	47	4		4	MUC16	19	9062384	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08		9062384	50066599	23	9175											
ZNF653	115950	broad.mit.edu	37	chr19	11594572	11594572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttctcgaagcgcttcccGcagcgatcgcacgtgaagtt	8	9	11	13	6	1	1	0	1	1	0	4	3	2	1	1	0	3	5	1	0	2	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr19:11594572G>A	uc002mrz.2	-	8	1910	c.1773C>T	c.(1771-1773)tgC>tgT	p.C591C	ELAVL3_uc002mrx.1_5'Flank|ELAVL3_uc002mry.1_5'Flank	NM_138783	NP_620138	Q96CK0	ZN653_HUMAN	Homo sapiens zinc finger protein 653 (ZNF653), mRNA.	591					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						AGCGCTTCCCGCAGCGATCGC	0.612													A	11594572	G	A	11594572	2	1	136	1	0	0	0	0	0	0	0	1	18167	1079	38	1		1	ZNF653	19	11594572	Silent	SNP	G	TCGA-14-1043-01B-11D-1845-08	2532188	11594572	47534411	24	9176											
FAM83D	81610	broad.mit.edu	37	chr20	37580810	37580811	+	Frame_Shift_Ins	INS	-	-	T																															accagtctcaaaaatgtctgINStatcgagatcttccagtttg																										TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:37580810_37580811insT	uc002xjg.3	+	3	1536_1537	c.1495_1496insT	c.(1495-1497)gtafs	p.V499fs		NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	469					cell division|mitosis	cytoplasm|spindle pole		p.V499I(2)		endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AAAAATGTCTGTATCGAGATCT	0.485													T	37580811	-	T	37580810	7	5	136	1	0	1	1	0	0	0	0	0	5686	1377	48	0	1509	0	FAM83D	20	37580810	Frame_Shift_Ins	INS	-	TCGA-14-1043-01B-11D-1845-08		37580810	25444710	25	9177											
PCK1	5105	broad.mit.edu	37	chr20	56140691	56140691	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggatgccctgaacctgaAaggcctggggcacatcaaca	12	5	13	11	0	1	2	1	2	0	0	1	4	1	4	3	5	3	1	3	5	3	0			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr20:56140691A>C	uc002xyn.4	+	9	1863	c.1700A>C	c.(1699-1701)aAa>aCa	p.K567T	PCK1_uc010zzm.2_Missense_Mutation_p.K250T	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	567					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CTGAACCTGAAAGGCCTGGGG	0.532													C	56140691	A	C	56140691	3	2	136	1	0	0	0	0	1	0	0	0	11657	14	1	5	1734	5	PCK1	20	56140691	Missense_Mutation	SNP	A	TCGA-14-1043-01B-11D-1845-08	18559881	56140691	6884829	26	9178											
HUNK	30811	broad.mit.edu	37	chr21	33331245	33331245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccagaagatggtagaCaaagaaatgaaccccctccc	15	7	8	11	0	0	5	0	1	0	4	1	5	1	5	4	1	2	2	4	1	6	3			TCGA-14-1043-01B-11D-1845-08	TCGA-14-1043-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a439c422-8728-42f5-8dda-6e9e1590478c	778e0059-412a-40b8-98b4-d3e905f5b905	g.chr21:33331245C>A	uc002yph.3	+	4	1197	c.837C>A	c.(835-837)gaC>gaA	p.D279E		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	279	Protein kinase.				multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						AGATGGTAGACAAAGAAATGA	0.537													A	33331245	C	A	33331245	3	1	136	1	0	0	0	0	1	0	0	0	7516	477	17	4	855	4	HUNK	21	33331245	Missense_Mutation	SNP	C	TCGA-14-1043-01B-11D-1845-08		33331245	14798650	27	9179											
ACOT11	26027	broad.mit.edu	37	chr1	55096492	55096492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaatccaggtcaaagggtcGcaggagcgacggttggaatg	11	6	16	8	4	1	0	1	0	0	0	3	4	2	2	1	5	1	2	1	5	3	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:55096492G>A	uc001cxm.2	+	15	1891	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H		NM_015547	NP_056362	Q8WXI4	ACO11_HUMAN	Homo sapiens acyl-CoA thioesterase 11 (ACOT11), transcript variant 1, mRNA.	572	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity	p.R572H(1)		NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						tcaaagggtcgcaggagcgac	0.547													A	55096492	G	A	55096492	3	1	137	1	0	0	0	0	1	0	0	0	149	1087	38	1	1937	1	ACOT11	1	55096492	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		55096492	194154129	1	9180											
PGM1	5236	broad.mit.edu	37	chr1	64100595	64100595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaggactttggaggcCaccaccctgaccccaacctc	8	7	9	17	0	1	1	0	1	1	0	2	4	1	4	6	4	1	0	6	4	1	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:64100595C>T	uc010ooz.2	+	4	1077	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	PGM1_uc001dbh.3_Missense_Mutation_p.H260Y|PGM1_uc010ooy.2_Missense_Mutation_p.H63Y	NM_001172818	NP_001166290	P36871	PGM1_HUMAN	Homo sapiens phosphoglucomutase 1 (PGM1), transcript variant 2, mRNA.	260					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CTTTGGAGGCCACCACCCTGA	0.547													T	64100595	C	T	64100595	3	4	137	1	0	0	0	0	1	0	0	0	11874	594	21	2	1100	2	PGM1	1	64100595	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	9004103	64100595	185150026	2	9181											
TCHH	7062	broad.mit.edu	37	chr1	152084715	152084735	+	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	CTCCTGCTGCTCGCGCCTCTC	-																															tcctcctgctgctcgcgcctCtcctgctgctcgcgcctctc																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:152084715_152084735delCTCCTGCTGCTCGCGCCTCTC	uc009wne.1	-	2	1230_1250	c.958_978delGAGAGGCGCGAGCAGCAGGAG	c.(958-978)gagaggcgcgagcagcaggagdel	p.ERREQQE320del	TCHH_uc001ezp.2_In_Frame_Del_p.ERREQQE320del	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	320	5 X 13 AA tandem repeats of R-R-E-Q-E-E- E-R-R-E-Q-Q-L.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			gctcgcgcctctcctgctgctcgcgcctctcctcctgctgc	0.692													-	152084735	CTCCTGCTGCTCGCGCCTCTC	-	152084715	7	5	137	1	0	1	0	1	0	0	0	0	15800	912	32	0	4857	0	TCHH	1	152084715	In_Frame_Del	DEL	CTCCTGCTGCTCGCGCCTCTC	TCGA-14-1395-01B-11D-1845-08	87984120	152084715	97165906	3	9182											
HMCN1	83872	broad.mit.edu	37	chr1	185956668	185956668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaaccgtctgtcatcTggtccaaggtaaatgataca	13	10	7	11	1	3	1	1	1	2	0	5	1	5	1	3	2	2	1	3	2	5	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:185956668T>C	uc001grq.1	+	19	3269	c.3040T>C	c.(3040-3042)Tgg>Cgg	p.W1014R	HMCN1_uc001grr.1_Missense_Mutation_p.W355R	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1014	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCTGTCATCTGGTCCAAGGT	0.453													C	185956668	T	C	185956668	3	2	137	1	0	0	0	0	1	0	0	0	7275	1580	55	3	3118	3	HMCN1	1	185956668	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08	33871953	185956668	63293953	4	9183											
CFHR5	81494	broad.mit.edu	37	chr1	196964877	196964877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgtggtccacctcctcAactctccaatggtgaagtta	10	12	7	12	0	3	1	2	1	1	0	6	1	5	1	4	2	1	1	4	2	4	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:196964877A>T	uc001gts.4	+	4	766	c.638A>T	c.(637-639)cAa>cTa	p.Q213L		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	213	Sushi 4.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CCACCTCCTCAACTCTCCAAT	0.333													T	196964877	A	T	196964877	3	4	137	1	0	0	0	0	1	0	0	0	3318	130	5	5	656	5	CFHR5	1	196964877	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08	11008209	196964877	52285744	5	9184											
OBSCN	84033	broad.mit.edu	37	chr1	228400217	228400217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcccagcaccggcacgCgcacctgcacggtgactgaa	9	3	11	18	5	0	2	0	2	0	0	0	2	0	2	4	2	2	4	4	2	1	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:228400217C>T	uc009xez.1	+	1	777	c.733C>T	c.(733-735)Cgc>Tgc	p.R245C	OBSCN_uc001hsn.3_Missense_Mutation_p.R245C|AK056556_uc001hsm.1_Intron	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	245	Ig-like 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.R245C(3)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCGGCACGCGCACCTGCAC	0.746													T	228400217	C	T	228400217	3	4	137	1	0	0	0	0	1	0	0	0	10888	768	27	1	735	1	OBSCN	1	228400217	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	31435340	228400217	20850404	6	9185											
KIAA1804	84451	broad.mit.edu	37	chr1	233511808	233511808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatagaacagattgcaaaGaaaggtacgtgtgtggtatc	16	9	12	4	1	0	4	0	0	0	4	1	4	0	4	0	2	3	3	0	2	7	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:233511808G>C	uc001hvt.4	+	6	2083	c.1822G>C	c.(1822-1824)Gaa>Caa	p.E608Q	KIAA1804_uc001hvu.4_Missense_Mutation_p.E54Q	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	608					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				AGATTGCAAAGAAAGGTACGT	0.348													C	233511808	G	C	233511808	3	2	137	1	0	0	0	0	1	0	0	0	8317	943	33	4	1848	4	KIAA1804	1	233511808	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	5111591	233511808	15738813	7	9186											
TARBP1	6894	broad.mit.edu	37	chr1	234541656	234541656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggctccttaccctgctcCgtgcatgctttccacttgat	5	13	9	14	1	0	1	0	1	0	0	3	2	3	1	4	1	4	4	4	1	1	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr1:234541656C>T	uc001hwd.3	-	23	3982	c.3982G>A	c.(3982-3984)Gga>Aga	p.G1328R		NM_005646	NP_005637	Q13395	TARB1_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 1 (TARBP1), mRNA.	1328					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			TACCCTGCTCCGTGCATGCTT	0.532													T	234541656	C	T	234541656	3	4	137	1	0	0	0	0	1	0	0	0	15652	661	23	1	911	1	TARBP1	1	234541656	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	1029848	234541656	14708965	8	9187											
ABCB11	8647	broad.mit.edu	37	chr2	169783711	169783711	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgagcctgttttgcAgctgctatgactctttccat	6	15	9	11	0	1	2	0	2	1	0	2	2	2	2	2	0	6	6	2	0	1	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:169783711A>T	uc002ueo.1	-	25	3699	c.3573T>A	c.(3571-3573)gcT>gcA	p.A1191A	ABCB11_uc010zda.1_Silent_p.A609A|ABCB11_uc010zdb.1_Silent_p.A667A	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	1191	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCTGTTTTGCAGCTGCTATGA	0.453													T	169783711	A	T	169783711	2	4	137	1	0	0	0	0	0	0	0	1	42	175	7	5		5	ABCB11	2	169783711	Silent	SNP	A	TCGA-14-1395-01B-11D-1845-08		169783711	73415662	9	9188											
MFSD6	54842	broad.mit.edu	37	chr2	191301881	191301881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcgtcttcatcgtcttcGgcgttctcatgaccatggcc	6	13	9	13	4	4	2	2	1	3	1	8	2	4	2	2	2	0	1	2	2	0	3	rs147647208		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:191301881G>T	uc002urz.2	+	2	1450	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C		NM_017694	NP_060164	Q6ZSS7	MFSD6_HUMAN	Homo sapiens major facilitator superfamily domain containing 6 (MFSD6), mRNA.	376					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CATCGTCTTCGGCGTTCTCAT	0.517													T	191301881	G	T	191301881	3	4	137	1	0	0	0	0	1	0	0	0	9610	1116	39	4	1128	4	MFSD6	2	191301881	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	21518170	191301881	51897492	10	9189											
DNPEP	23549	broad.mit.edu	37	chr2	220246112	220246112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagggcctctgacaccGcgtttgaagcatagcgttgc	8	9	13	11	3	2	2	1	2	1	0	2	3	2	3	2	2	3	3	2	2	2	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:220246112G>A	uc002vle.2	-	12	1330	c.1184C>T	c.(1183-1185)gCg>gTg	p.A395V	DNPEP_uc002vli.2_Missense_Mutation_p.A342V|DNPEP_uc010zlg.2_Missense_Mutation_p.A403V	NM_012100	NP_036232	Q9ULA0	DNPEP_HUMAN	Homo sapiens aspartyl aminopeptidase (DNPEP), mRNA.	385					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CTCTGACACCGCGTTTGAAGC	0.597													A	220246112	G	A	220246112	3	1	137	1	0	0	0	0	1	0	0	0	4718	1087	38	1	285	1	DNPEP	2	220246112	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	28944231	220246112	22953261	11	9190											
AGXT	189	broad.mit.edu	37	chr2	241808652	241808652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacccactcacactggtCatctctggctcgggacactg	9	8	10	14	1	3	0	2	0	1	0	5	2	3	2	1	4	1	1	1	4	1	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr2:241808652C>T	uc002waa.4	+	1	352	c.231C>T	c.(229-231)gtC>gtT	p.V77V	AGXT_uc010zoi.1_Silent_p.V77V	NM_000030	NP_000021	P21549	SPYA_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase (AGXT), mRNA.	77					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity	p.L76M(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCACACTGGTCATCTCTGGCT	0.607													T	241808652	C	T	241808652	2	4	137	1	0	0	0	0	0	0	0	1	404	813	29	2		2	AGXT	2	241808652	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08	21562540	241808652	1390721	12	9191											
CNTN6	27255	broad.mit.edu	37	chr3	1415706	1415706	+	Frame_Shift_Del	DEL	G	G	-																															ttgttgccggcaacagcattGggattggagaaccaagtgaa																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:1415706delG	uc003boz.3	+	15	2311	c.2044delG	c.(2044-2046)gggfs	p.G682fs	CNTN6_uc011asj.2_Frame_Shift_Del_p.G610fs|CNTN6_uc003bpa.3_Frame_Shift_Del_p.G682fs	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	682	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAACAGCATTGGGATTGGAGA	0.393													-	1415706	G	-	1415706	7	5	137	1	0	1	0	1	0	0	0	0	3676	1348	47	0	2102	0	CNTN6	3	1415706	Frame_Shift_Del	DEL	G	TCGA-14-1395-01B-11D-1845-08		1415706	196606724	13	9192											
LRRC31	79782	broad.mit.edu	37	chr3	169557943	169557943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaccattgtccacaatctcGaaaatttgatggtcgaaggc	14	10	8	9	2	1	1	0	1	1	0	4	3	2	1	2	2	1	0	2	2	5	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:169557943G>A	uc003fgc.1	-	8	1551	c.1486C>T	c.(1486-1488)Cga>Tga	p.R496*	LRRC31_uc010hwp.1_Nonsense_Mutation_p.R440*	NM_024727	NP_079003	Q6UY01	LRC31_HUMAN	Homo sapiens leucine rich repeat containing 31 (LRRC31), mRNA.	496										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCACAATCTCGAAAATTTGAT	0.453													A	169557943	G	A	169557943	4	1	137	1	0	0	0	0	0	1	0	0	9056	1066	37	1	176	1	LRRC31	3	169557943	Nonsense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	168142237	169557943	28464487	14	9193											
CPN2	1370	broad.mit.edu	37	chr3	194061799	194061799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtatgcgctgctactaggGccctgctgcccgagcctcga	5	9	12	15	3	0	0	0	0	0	0	1	2	0	0	3	1	6	4	3	1	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr3:194061799G>A	uc003fts.3	-	1	1723	c.1633C>T	c.(1633-1635)Ccc>Tcc	p.P545S	CPN2_uc021xix.1_Missense_Mutation_p.P545S	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	545					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCTACTAGGGCCCTGCTGCC	0.652													A	194061799	G	A	194061799	3	1	137	1	0	0	0	0	1	0	0	0	3841	1203	42	2	8	2	CPN2	3	194061799	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	24503856	194061799	3960631	15	9194											
ZNF732	654254	broad.mit.edu	37	chr4	265913	265913	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtaagatttctctccagTatgaactttatgtttagcaa	11	18	6	6	0	1	2	0	1	1	1	3	2	2	2	1	0	2	4	1	0	6	8			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265913T>G	uc021xka.1	-	3	733	c.733A>C	c.(733-735)Act>Cct	p.T245P	ZNF732_uc011buu.1_Missense_Mutation_p.T213P	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTCTCTCCAGTATGAACTTTA	0.363													G	265913	T	G	265913	3	3	137	1	0	0	0	0	1	0	0	0	18224	1638	57	5	1028	5	ZNF732	4	265913	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08		265913	190888363	16	9195											
ZNF732	654254	broad.mit.edu	37	chr4	265995	265995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaagggtttctctccagtAtgaattatctcatattcatt	10	17	7	7	0	3	2	2	2	2	0	6	2	4	2	1	1	0	2	1	1	5	6			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:265995A>T	uc021xka.1	-	3	651	c.651T>A	c.(649-651)caT>caA	p.H217Q	ZNF732_uc011buu.1_Missense_Mutation_p.H185Q	NM_001137608	NP_001131080	B4DXR9	ZN732_HUMAN	Homo sapiens zinc finger protein 732 (ZNF732), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TCTCTCCAGTATGAATTATCT	0.348													T	265995	A	T	265995	3	4	137	1	0	0	0	0	1	0	0	0	18224	446	16	5	1110	5	ZNF732	4	265995	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08	82	265995	190888281	17	9196											
UGT2B4	7363	broad.mit.edu	37	chr4	70351001	70351001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaagtccaaactaacaGctgctcccttggccttcatg	9	11	9	12	0	1	0	1	0	0	0	3	1	3	1	3	2	4	2	3	2	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70351001G>A	uc003hek.4	-	4	1282	c.1235C>T	c.(1234-1236)gCt>gTt	p.A412V	UGT2B4_uc011cap.2_Missense_Mutation_p.A276V|UGT2B4_uc003hel.4_Intron	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	412					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAAACTAACAGCTGCTCCCTT	0.423													A	70351001	G	A	70351001	3	1	137	1	0	0	0	0	1	0	0	0	17063	971	34	2	359	2	UGT2B4	4	70351001	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	70085006	70351001	120803275	18	9197											
SULT1B1	27284	broad.mit.edu	37	chr4	70620981	70620981	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatagattgacagttgttcTggagaaatatagagaataaa	18	12	9	2	0	1	4	0	1	1	3	1	6	1	4	0	1	0	2	0	1	8	8			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:70620981T>C	uc003hen.3	-	2	255	c.-43_splice	c.e2-1			NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ACAGTTGTTCTGGAGAAATAT	0.328													C	70620981	T	C	70620981	5	2	137	1	0	0	0	0	0	0	1	0	15472	1594	55	3		3	SULT1B1	4	70620981	Splice_Site	SNP	T	TCGA-14-1395-01B-11D-1845-08	269980	70620981	120533295	19	9198											
C4orf32	132720	broad.mit.edu	37	chr4	113107978	113107978	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaggatgtattttggagaaCgaatagtggaaccagtaata	16	10	11	4	1	0	1	0	0	0	1	0	5	0	3	1	3	2	2	1	3	8	6			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr4:113107978C>T	uc003iah.2	+	1	467	c.283C>T	c.(283-285)Cga>Tga	p.R95*	C4orf32_uc003iai.3_Non-coding_Transcript	NM_152400	NP_689613	Q8N8J7	CD032_HUMAN	Homo sapiens chromosome 4 open reading frame 32 (C4orf32), mRNA.	95						integral to membrane							Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00198)		TTTTGGAGAACGAATAGTGGA	0.413													T	113107978	C	T	113107978	4	4	137	1	0	0	0	0	0	1	0	0	2284	528	19	1	289	1	C4orf32	4	113107978	Nonsense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	42486997	113107978	78046298	20	9199											
CEP72	55722	broad.mit.edu	37	chr5	637858	637858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagctcagaaagcaggaaCgggaggaccttgtctcagcc	12	5	13	11	1	2	1	2	0	1	1	3	5	2	4	2	3	4	2	2	3	2	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:637858C>T	uc003jbf.3	+	6	1203	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	CEP72_uc011clz.1_Non-coding_Transcript	NM_018140	NP_060610	Q9P209	CEP72_HUMAN	Homo sapiens centrosomal protein 72kDa (CEP72), mRNA.	377					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			AAAGCAGGAACGGGAGGACCT	0.622													T	637858	C	T	637858	2	4	137	1	0	0	0	0	0	0	0	1	3290	535	19	1		1	CEP72	5	637858	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08		637858	180277402	21	9200											
CDH18	1016	broad.mit.edu	37	chr5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgtaaaccacccgagCgctgtttccataggtagggt	10	10	11	10	2	0	0	0	0	0	0	1	1	1	0	3	2	3	5	3	2	5	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:19721516C>T	uc003jgd.3	-	4	1117	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A195T(2)|p.S194R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463													T	19721516	C	T	19721516	3	4	137	1	0	0	0	0	1	0	0	0	3133	768	27	1	1825	1	CDH18	5	19721516	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	19083658	19721516	161193744	22	9201											
PCDHB16	57717	broad.mit.edu	37	chr5	140564331	140564331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgatgcctgagggcccctttCcagggcgtctggtggacgta	5	9	15	12	3	1	1	0	1	1	0	2	3	2	2	4	4	1	1	4	4	1	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr5:140564331C>T	uc003liv.3	+	0	3352	c.2197C>T	c.(2197-2199)Cca>Tca	p.P733S	PCDHB9_uc003liw.1_5'Flank	NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	733					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGGCCCCTTTCCAGGGCGTCT	0.627													T	140564331	C	T	140564331	3	4	137	1	0	0	0	0	1	0	0	0	11617	855	30	2	2199	2	PCDHB16	5	140564331	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	120842815	140564331	40350929	23	9202											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056384	26056385	+	Frame_Shift_Ins	INS	-	-	C																															ctttcgtttgcaccagagtgINScccttgctcaccaggctctt																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:26056384_26056385insC	uc003nfw.3	-	0	315_316	c.272_273insG	c.(271-273)ggcfs	p.G91fs		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	91	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCACCAGAGTGCCCTTGCTCAC	0.545													C	26056385	-	C	26056384	7	5	137	1	0	1	1	0	0	0	0	0	7179	1306	46	0	372	0	HIST1H1C	6	26056384	Frame_Shift_Ins	INS	-	TCGA-14-1395-01B-11D-1845-08		26056384	145058683	24	9203											
GABRR2	2570	broad.mit.edu	37	chr6	89975454	89975454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgtggcgacgcaacGtgaagttaatgtacagacgg	14	7	14	6	4	0	4	0	1	0	3	0	5	0	4	0	2	2	3	0	2	5	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:89975454G>A	uc003pnb.2	-	6	850	c.842C>T	c.(841-843)aCg>aTg	p.T281M	GABRR2_uc011dzx.1_Missense_Mutation_p.T157M	NM_002043	NP_002034	P28476	GBRR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, rho 2 (GABRR2), mRNA.	281					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		GCGACGCAACGTGAAGTTAAT	0.517													A	89975454	G	A	89975454	3	1	137	1	0	0	0	0	1	0	0	0	6229	1145	40	1	642	1	GABRR2	6	89975454	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	63919070	89975454	81139613	25	9204											
ZBTB2	57621	broad.mit.edu	37	chr6	151687420	151687420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccggagagtgaagcgccGtccacacaggtggcaggcat	9	5	15	12	3	0	2	0	1	0	1	2	3	2	2	3	4	1	3	3	4	1	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr6:151687420G>A	uc003qoh.3	-	2	916	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_020861	NP_065912	Q8N680	ZBTB2_HUMAN	Homo sapiens zinc finger and BTB domain containing 2 (ZBTB2), mRNA.	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTGAAGCGCCGTCCACACAGG	0.557													A	151687420	G	A	151687420	3	1	137	1	0	0	0	0	1	0	0	0	17629	1144	40	1	767	1	ZBTB2	6	151687420	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	61711966	151687420	19427647	26	9205											
EGFR	1956	broad.mit.edu	37	chr7	55220295	55220295	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgtggcaagtcccccAgtgactgctgccacaaccag	8	6	11	16	1	0	1	0	1	0	0	1	1	1	1	5	1	4	3	5	1	2	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:55220295A>T	uc003tqk.3	+	5	931	c.685A>T	c.(685-687)Agt>Tgt	p.S229C	EGFR_uc003tqh.3_Missense_Mutation_p.S229C|EGFR_uc003tqi.3_Missense_Mutation_p.S229C|EGFR_uc003tqj.3_Missense_Mutation_p.S229C|EGFR_uc022adm.1_Missense_Mutation_p.S229C|EGFR_uc010kzg.2_Missense_Mutation_p.S184C|EGFR_uc022adn.1_Missense_Mutation_p.S184C|EGFR_uc011kco.2_Missense_Mutation_p.S176C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	229					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAAGTCCCCCAGTGACTGCTG	0.617		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220295	A	T	55220295	3	4	137	1	0	0	0	0	1	0	0	0	5006	188	7	5	707	5	EGFR	7	55220295	Missense_Mutation	SNP	A	TCGA-14-1395-01B-11D-1845-08		55220295	103918368	27	9206											
MUC17	140453	broad.mit.edu	37	chr7	100677499	100677499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgcctgacagcaccacGccggtagtcagttctgaggc	9	8	12	12	2	2	2	1	2	1	0	2	2	2	2	3	2	2	4	3	2	2	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:100677499G>A	uc003uxp.1	+	2	2855	c.2802G>A	c.(2800-2802)acG>acA	p.T934T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	934	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)					ACAGCACCACGCCGGTAGTCA	0.512													A	100677499	G	A	100677499	2	1	137	1	0	0	0	0	0	0	0	1	10050	1074	38	1		1	MUC17	7	100677499	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	45457204	100677499	58461164	28	9207											
OR2F1	26211	broad.mit.edu	37	chr7	143657328	143657328	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcacattttcttgcagaaCataaagccatcccattccag	12	11	6	12	0	1	1	0	0	1	1	3	1	3	1	3	1	3	2	3	1	3	5			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:143657328C>A	uc003wds.1	+	0	309	c.265C>A	c.(265-267)Cat>Aat	p.H89N		NM_012369	NP_036501	Q13607	OR2F1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 1 (OR2F1), mRNA.	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|skin(4)	34	Melanoma(164;0.0903)					TCTTGCAGAACATAAAGCCAT	0.512													A	143657328	C	A	143657328	3	1	137	1	0	0	0	0	1	0	0	0	11072	478	17	4	267	4	OR2F1	7	143657328	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	42979829	143657328	15481335	29	9208											
EZH2	2146	broad.mit.edu	37	chr7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggaaagatgctaacccTttttcagctgtatctttctg	10	15	8	8	0	3	1	1	0	2	1	3	3	3	2	1	1	3	3	1	1	4	5			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr7:148512600T>C	uc003wfd.2	-	12	1722	c.1529A>G	c.(1528-1530)aAg>aGg	p.K510R	EZH2_uc022aov.1_Missense_Mutation_p.K471R|EZH2_uc011kug.2_Missense_Mutation_p.K501R|EZH2_uc003wfb.2_Missense_Mutation_p.K515R|EZH2_uc003wfc.2_Missense_Mutation_p.K471R|EZH2_uc011kuh.2_Missense_Mutation_p.K501R	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R509G(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL								C	148512600	T	C	148512600	3	2	137	1	0	0	0	0	1	0	0	0	5376	1609	56	3	743	3	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-14-1395-01B-11D-1845-08	4855272	148512600	10626063	30	9209											
NCOA2	10499	broad.mit.edu	37	chr8	71068332	71068338	+	Frame_Shift_Del	DEL	ATCTTTA	ATCTTTA	-																															gttatttctggtaaaccaatAtctttagtatcatctttatc																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr8:71068332_71068338delATCTTTA	uc003xyn.1	-	10	2424_2430	c.2262_2268delTAAAGAT	c.(2260-2268)actaaagatfs	p.T754fs		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	754					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTAAACCAATATCTTTAGTATCATCTT	0.411			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								-	71068338	ATCTTTA	-	71068332	7	5	137	1	0	1	0	1	0	0	0	0	10305	446	16	0	2178	0	NCOA2	8	71068332	Frame_Shift_Del	DEL	ATCTTTA	TCGA-14-1395-01B-11D-1845-08		71068332	75295690	31	9210											
FAM75A6	389730	broad.mit.edu	37	chr9	43630642	43630642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaacacccatggtgtggaGctgggggcgtttagcgatga	8	9	15	9	2	0	1	0	1	0	0	1	3	1	2	2	4	3	2	2	4	2	2	rs2808959		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:43630642G>A	uc011lrb.2	-	0	89	c.60C>T	c.(58-60)agC>agT	p.S20S		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	20						integral to membrane		p.S20S(2)		breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						ATGGTGTGGAGCTGGGGGCGT	0.473													A	43630642	G	A	43630642	2	1	137	1	0	0	0	0	0	0	0	1	5672	962	34	2		2	FAM75A6	9	43630642	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08		43630642	97582789	32	9211											
COL5A1	1289	broad.mit.edu	37	chr9	137676834	137676834	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttttctggcttgcaGggggagatcggcccacccgg	4	10	13	14	2	2	1	0	0	2	1	4	2	3	1	3	5	1	2	3	5	0	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr9:137676834G>T	uc004cfe.3	+	30	2867	c.2485_splice	c.e30-1	p.G829_splice		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	829	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CTGGCTTGCAGGGGGAGATCG	0.632													T	137676834	G	T	137676834	5	4	137	1	0	0	0	0	0	0	1	0	3727	1014	35	4	2602	4	COL5A1	9	137676834	Splice_Site	SNP	G	TCGA-14-1395-01B-11D-1845-08	94046192	137676834	3536597	33	9212											
CUBN	8029	broad.mit.edu	37	chr10	16994307	16994307	+	Frame_Shift_Del	DEL	T	T	-																															cttgaatgatccagctgcagTtctgattgtttggataattg																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:16994307delT	uc001ioo.3	-	32	4989	c.4937delA	c.(4936-4938)aacfs	p.N1646fs		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	1646	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAGCTGCAGTTCTGATTGTT	0.478													-	16994307	T	-	16994307	7	5	137	1	0	1	0	1	0	0	0	0	4084	1725	60	0	6074	0	CUBN	10	16994307	Frame_Shift_Del	DEL	T	TCGA-14-1395-01B-11D-1845-08		16994307	118540440	34	9213											
PTEN	5728	broad.mit.edu	37	chr10	89711928	89711928	+	Frame_Shift_Del	DEL	A	A	-																															tattattatagctacctgttAaagaatcatctggattatag																										TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:89711928delA	uc001kfb.3	+	5	1578	c.546delA	c.(544-546)ttafs	p.L182fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	182	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.L182fs*16(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.L182F(2)|p.Y27_N212>Y(2)|p.L181fs*2(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.K183fs*7(1)|p.V175fs*3(1)|p.L182*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTACCTGTTAAAGAATCATC	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89711928	A	-	89711928	7	5	137	1	0	1	0	1	0	0	0	0	12823	359	13	0	568	0	PTEN	10	89711928	Frame_Shift_Del	DEL	A	TCGA-14-1395-01B-11D-1845-08	72717621	89711928	45822819	35	9214											
SORCS3	22986	broad.mit.edu	37	chr10	106960921	106960921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaaaatattcaagaaacGtaagccaggagctcagtgtg	17	7	11	6	1	2	1	2	0	0	1	2	3	2	3	1	2	3	2	1	2	7	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr10:106960921G>A	uc001kyi.1	+	15	2398	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	SORCS3_uc010qqz.1_Non-coding_Transcript	NM_014978	NP_055793	Q9UPU3	SORC3_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 3 (SORCS3), mRNA.	724						integral to membrane	neuropeptide receptor activity	p.R724H(2)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TTCAAGAAACGTAAGCCAGGA	0.468													A	106960921	G	A	106960921	3	1	137	1	0	0	0	0	1	0	0	0	15026	1145	40	1	2233	1	SORCS3	10	106960921	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	17248993	106960921	28573826	36	9215											
OR51G1	79324	broad.mit.edu	37	chr11	4944755	4944755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaagaggtgtacaacgCggggcagatgttcaccaaag	14	6	13	8	2	1	3	1	1	0	2	1	3	1	3	1	3	2	3	1	3	4	2	rs146006146	by1000genomes	TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:4944755C>T	uc010qyr.2	-	0	815	c.815G>A	c.(814-816)cGc>cAc	p.R272H		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGTACAACGCGGGGCAGATG	0.502													T	4944755	C	T	4944755	3	4	137	1	0	0	0	0	1	0	0	0	11174	768	27	1	152	1	OR51G1	11	4944755	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		4944755	130061761	37	9216											
LPXN	9404	broad.mit.edu	37	chr11	58338166	58338166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcctgaagggtggagcgttCcagttcctccaataaggcat	9	10	12	10	1	0	1	0	1	0	0	4	2	4	2	4	3	1	3	4	3	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:58338166C>T	uc001nmw.3	-	1	179	c.34G>A	c.(34-36)Gaa>Aaa	p.E12K	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Missense_Mutation_p.E17K|LPXN_uc010rkk.2_Nonsense_Mutation_p.W7*	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	12					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GTGGAGCGTTCCAGTTCCTCC	0.433													T	58338166	C	T	58338166	3	4	137	1	0	0	0	0	1	0	0	0	8999	864	30	2	1158	2	LPXN	11	58338166	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	53393411	58338166	76668350	38	9217											
DAGLA	747	broad.mit.edu	37	chr11	61511463	61511463	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgctgcggccaatgaCgaggaggaagaggttggcgg	9	5	18	9	3	0	2	0	1	0	1	0	5	0	4	2	6	2	2	2	6	2	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:61511463C>T	uc001nsa.3	+	19	2747	c.2631C>T	c.(2629-2631)gaC>gaT	p.D877D		NM_006133	NP_006124	Q9Y4D2	DGLA_HUMAN	Homo sapiens diacylglycerol lipase, alpha (DAGLA), mRNA.	877					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CGGCCAATGACGAGGAGGAAG	0.726													T	61511463	C	T	61511463	2	4	137	1	0	0	0	0	0	0	0	1	4260	535	19	1		1	DAGLA	11	61511463	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08	3173297	61511463	73495053	39	9218											
TRIM49	57093	broad.mit.edu	37	chr11	89531775	89531775	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatatcattgttggcttcTtcatgatgcagagtaatatg	12	15	9	5	0	3	3	2	1	1	2	3	3	3	3	0	1	1	4	0	1	4	7			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:89531775T>C	uc001pdb.3	-	7	1211	c.882A>G	c.(880-882)gaA>gaG	p.E294E		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	294	B30.2/SPRY.					intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TGTTGGCTTCTTCATGATGCA	0.313													C	89531775	T	C	89531775	2	2	137	1	0	0	0	0	0	0	0	1	16625	1606	56	3		3	TRIM49	11	89531775	Silent	SNP	T	TCGA-14-1395-01B-11D-1845-08	28020312	89531775	45474741	40	9219											
BARX2	8538	broad.mit.edu	37	chr11	129306839	129306839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagacggaacagcccacGccccgacagaagaagccccg	13	1	11	16	4	1	3	1	0	0	3	1	6	1	4	5	1	3	0	5	1	3	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr11:129306839G>A	uc001qfc.4	+	1	431	c.381G>A	c.(379-381)acG>acA	p.T127T		NM_003658	NP_003649	Q9UMQ3	BARX2_HUMAN	Homo sapiens BARX homeobox 2 (BARX2), mRNA.	127										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		AACAGCCCACGCCCCGACAGA	0.637													A	129306839	G	A	129306839	2	1	137	1	0	0	0	0	0	0	0	1	1321	1074	38	1		1	BARX2	11	129306839	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	39775064	129306839	5699677	41	9220											
SLC38A4	55089	broad.mit.edu	37	chr12	47186771	47186771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttctgaatttcctatcccGatgtagctatctggagcact	8	16	7	10	1	2	1	0	1	2	0	4	3	4	2	2	1	2	3	2	1	4	6			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:47186771G>A	uc001rpi.2	-	2	483	c.84C>T	c.(82-84)atC>atT	p.I28I	SLC38A4_uc001rpj.2_Silent_p.I28I|SLC38A4_uc009zkl.2_Silent_p.I28I	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	28					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					TTCCTATCCCGATGTAGCTAT	0.438													A	47186771	G	A	47186771	2	1	137	1	0	0	0	0	0	0	0	1	14700	1048	37	1		1	SLC38A4	12	47186771	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08		47186771	86665124	42	9221											
TRHDE	29953	broad.mit.edu	37	chr12	73046870	73046870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcataatccatgtagctcGaaatccacatggtcgagacc	12	10	8	11	2	1	1	1	0	0	1	5	3	3	1	3	1	1	2	3	1	3	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:73046870G>A	uc001sxa.3	+	16	2813	c.2783G>A	c.(2782-2784)cGa>cAa	p.R928Q		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	928					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.A927S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CATGTAGCTCGAAATCCACAT	0.353													A	73046870	G	A	73046870	3	1	137	1	0	0	0	0	1	0	0	0	16580	1058	37	1	2849	1	TRHDE	12	73046870	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	25860099	73046870	60805025	43	9222											
SLC5A8	160728	broad.mit.edu	37	chr12	101588904	101588904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgcagaccacccccGttgccactaccgcgccccac	9	5	8	19	3	0	2	0	0	0	2	0	2	0	2	7	0	3	2	7	0	2	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:101588904G>A	uc001thz.4	-	3	896	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_145913	NP_666018	Q8N695	SC5A8_HUMAN	Homo sapiens solute carrier family 5 (iodide transporter), member 8 (SLC5A8), mRNA.	169					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GACCACCCCCGTTGCCACTAC	0.398													A	101588904	G	A	101588904	3	1	137	1	0	0	0	0	1	0	0	0	14765	1145	40	1	1374	1	SLC5A8	12	101588904	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	28542034	101588904	32262991	44	9223											
TMEM132D	121256	broad.mit.edu	37	chr12	130185158	130185158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagaaggagacgtccgcGttgttgatgtggtaggtcac	10	9	16	6	3	1	3	1	1	0	2	2	5	2	4	1	4	0	3	1	4	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr12:130185158G>A	uc009zyl.1	-	1	493	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	55						integral to membrane		p.N55T(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AGACGTCCGCGTTGTTGATGT	0.547													A	130185158	G	A	130185158	2	1	137	1	0	0	0	0	0	0	0	1	16147	1136	40	1		1	TMEM132D	12	130185158	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	28596254	130185158	3666737	45	9224											
MTUS2	23281	broad.mit.edu	37	chr13	29599206	29599206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatagcctgcagaccaCgcggagtattcagggaccaa	13	5	11	12	2	1	2	1	0	0	2	1	4	1	4	3	2	2	2	3	2	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr13:29599206C>T	uc001usl.4	+	0	459	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	124						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTGCAGACCACGCGGAGTATT	0.502													T	29599206	C	T	29599206	3	4	137	1	0	0	0	0	1	0	0	0	10042	536	19	1	403	1	MTUS2	13	29599206	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		29599206	85570672	46	9225											
KIF26A	26153	broad.mit.edu	37	chr14	104641823	104641823	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatggctgccagcacccctCgaggcagttctggtccagac	7	7	12	15	2	1	1	0	0	1	1	3	3	2	1	4	3	2	4	4	3	0	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr14:104641823C>T	uc001yos.4	+	11	2698	c.2698C>T	c.(2698-2700)Cga>Tga	p.R900*		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	900					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CAGCACCCCTCGAGGCAGTTC	0.692													T	104641823	C	T	104641823	4	4	137	1	0	0	0	0	0	1	0	0	8352	876	31	1	2744	1	KIF26A	14	104641823	Nonsense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		104641823	2707717	47	9226											
CA12	771	broad.mit.edu	37	chr15	63618489	63618489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctccggggacctcaagCgtgggcctcagtctccatct	6	8	13	14	2	4	0	2	0	2	0	6	2	5	2	4	4	2	1	4	4	1	0			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:63618489C>T	uc002amc.3	-	10	1216	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	CA12_uc002amd.3_Missense_Mutation_p.A343T|CA12_uc002ame.3_Missense_Mutation_p.A283T	NM_001218	NP_001209	O43570	CAH12_HUMAN	Homo sapiens carbonic anhydrase XII (CA12), transcript variant 1, mRNA.	354					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding	p.H353H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGACCTCAAGCGTGGGCCTCA	0.507													T	63618489	C	T	63618489	3	4	137	1	0	0	0	0	1	0	0	0	2539	768	27	1	8	1	CA12	15	63618489	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		63618489	38912903	48	9227											
GOLGA6B	55889	broad.mit.edu	37	chr15	72954612	72954612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcccccatccctggcGcccccagcagtgacctctgt	6	7	9	19	1	1	1	0	1	1	0	2	1	2	1	6	1	2	2	6	1	1	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr15:72954612G>A	uc010uks.1	+	10	908	c.867G>A	c.(865-867)gcG>gcA	p.A289A	DQ588973_uc021spx.1_5'Flank	NM_018652	NP_061122	A6NDN3	GOG6B_HUMAN	Homo sapiens golgin A6 family, member B (GOLGA6B), mRNA.	289								p.A289A(2)		NS(1)|breast(1)|endometrium(1)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	16						CATCCCTGGCGCCCCCAGCAG	0.537													A	72954612	G	A	72954612	2	1	137	1	0	0	0	0	0	0	0	1	6614	1074	38	1		1	GOLGA6B	15	72954612	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	9336123	72954612	29576780	49	9228											
AURKB	9212	broad.mit.edu	37	chr17	8108652	8108652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttctcattgtgcatgCgcccctcaatcatctctggg	6	12	7	16	1	4	0	3	0	2	0	6	0	4	0	4	1	2	1	4	1	1	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:8108652C>T	uc002gkn.3	-	7	807	c.746G>A	c.(745-747)cGc>cAc	p.R249H	AURKB_uc021tpy.1_Missense_Mutation_p.R216H|AURKB_uc010cnu.3_Missense_Mutation_p.R68H|AURKB_uc002gkm.3_Missense_Mutation_p.R248H|AURKB_uc010vuu.2_Missense_Mutation_p.R207H|AURKB_uc002gko.3_Non-coding_Transcript	NM_004217	NP_004208	Q96GD4	AURKB_HUMAN	Homo sapiens aurora kinase B (AURKB), mRNA.	248	Protein kinase.			MH -> ID (in Ref. 3; BAA82709).	anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|mitotic prometaphase|protein localization to kinetochore	chromosome passenger complex|condensed nuclear chromosome, centromeric region|cytosol|spindle	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|lung(2)	4						ATTGTGCATGCGCCCCTCAAT	0.572													T	8108652	C	T	8108652	3	4	137	1	0	0	0	0	1	0	0	0	1228	768	27	1	299	1	AURKB	17	8108652	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08		8108652	73086558	50	9229											
KRT20	54474	broad.mit.edu	37	chr17	39041110	39041110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgaccagccctcggggCgttggtttcgtaccactgct	4	10	13	14	5	0	0	0	0	0	0	3	1	0	0	3	3	3	4	3	3	1	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:39041110C>T	uc002hvl.3	-	0	386	c.328G>A	c.(328-330)Gcc>Acc	p.A110T		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	110	Linker 1.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCCCTCGGGGCGTTGGTTTCG	0.498													T	39041110	C	T	39041110	3	4	137	1	0	0	0	0	1	0	0	0	8516	768	27	1	978	1	KRT20	17	39041110	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	30932458	39041110	42154100	51	9230											
PLEKHH3	79990	broad.mit.edu	37	chr17	40823101	40823101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcgtacagcgcgaatgcGttgcggctccgggccaagcc	6	7	14	14	6	0	0	0	0	0	0	2	1	1	0	3	2	6	4	3	2	3	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr17:40823101G>A	uc002iau.2	-	8	1799	c.1332C>T	c.(1330-1332)aaC>aaT	p.N444N	PLEKHH3_uc002iat.1_Non-coding_Transcript|PLEKHH3_uc002iav.2_Non-coding_Transcript|PLEKHH3_uc002iaw.2_Silent_p.N444N	NM_024927	NP_079203	Q7Z736	PKHH3_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 3 (PLEKHH3), mRNA.	444	FERM.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GCGCGAATGCGTTGCGGCTCC	0.657													A	40823101	G	A	40823101	2	1	137	1	0	0	0	0	0	0	0	1	12155	1136	40	1		1	PLEKHH3	17	40823101	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	1781991	40823101	40372109	52	9231											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260326	44260326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtagtagacagcttgcggCgattcgaagtcgtccagcac	11	8	12	10	4	0	1	0	0	0	1	3	3	1	1	1	1	3	4	1	1	4	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr18:44260326C>T	uc010xcy.1	-	7	1486	c.918G>A	c.(916-918)tcG>tcA	p.S306S	ST8SIA5_uc002lci.1_Silent_p.S117S|ST8SIA5_uc002lcj.1_Silent_p.S270S|ST8SIA5_uc010xcz.1_Silent_p.S239S	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	270					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCTTGCGGCGATTCGAAGT	0.617													T	44260326	C	T	44260326	2	4	137	1	0	0	0	0	0	0	0	1	15331	755	27	1		1	ST8SIA5	18	44260326	Silent	SNP	C	TCGA-14-1395-01B-11D-1845-08		44260326	33816922	53	9232											
HOOK2	29911	broad.mit.edu	37	chr19	12874555	12874555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagttctggaggtgcccccGcagctggccgctgcttgggt	3	9	17	12	2	1	0	0	0	1	0	1	2	1	2	3	5	3	5	3	5	0	2			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:12874555G>A	uc002muy.2	-	20	2036	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	HOOK2_uc002muz.2_Missense_Mutation_p.A620V	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	622	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with CEP110.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						AGGTGCCCCCGCAGCTGGCCG	0.602													A	12874555	G	A	12874555	3	1	137	1	0	0	0	0	1	0	0	0	7338	1087	38	1	306	1	HOOK2	19	12874555	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		12874555	46254428	54	9233											
MAST3	23031	broad.mit.edu	37	chr19	18255858	18255858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagccccctttccccgcgctCtctgtcctcgaacccgtcgt	3	10	8	20	5	1	0	0	0	1	0	6	2	3	0	6	0	2	1	6	0	1	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:18255858C>G	uc002nhz.4	+	22	2771	c.2771C>G	c.(2770-2772)tCt>tGt	p.S924C		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	924	Ser-rich.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TCCCCGCGCTCTCTGTCCTCG	0.692													G	18255858	C	G	18255858	3	3	137	1	0	0	0	0	1	0	0	0	9401	913	32	4	2861	4	MAST3	19	18255858	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	5381303	18255858	40873125	55	9234											
ZNF569	148266	broad.mit.edu	37	chr19	37903536	37903536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggtgtctaacaaggtgcGacttttggctgaaagccttg	8	13	12	8	1	2	1	0	1	2	0	2	2	2	1	1	3	3	1	1	3	3	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:37903536G>A	uc002ogj.3	-	8	3028	c.2096C>T	c.(2095-2097)tCg>tTg	p.S699L	ZNF569_uc002ogh.3_Missense_Mutation_p.S516L|ZNF569_uc002ogi.3_Missense_Mutation_p.S675L	NM_152484	NP_689697	Q5MCW4	ZN569_HUMAN	Homo sapiens zinc finger protein 569 (ZNF569), mRNA.	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AACAAGGTGCGACTTTTGGCT	0.413													A	37903536	G	A	37903536	3	1	137	1	0	0	0	0	1	0	0	0	18101	1059	37	1	40	1	ZNF569	19	37903536	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	19647678	37903536	21225447	56	9235											
MED29	55588	broad.mit.edu	37	chr19	39883120	39883120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagaccttgatgaaggttgCggcccaaaacttgattcaga	12	10	10	9	1	1	5	1	3	0	2	1	5	1	5	2	2	2	1	2	2	4	5			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:39883120C>T	uc002olf.3	+	1	333	c.296C>T	c.(295-297)gCg>gTg	p.A99V	PAF1_uc002old.3_5'Flank|PAF1_uc010xuv.2_5'Flank|PAF1_uc002ole.1_5'Flank|MED29_uc010xux.2_Intron	NM_017592	NP_060062	Q9NX70	MED29_HUMAN	Homo sapiens mediator complex subunit 29 (MED29), mRNA.	78					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	protein binding			lung(2)|ovary(1)|pancreas(1)	4	all_cancers(60;7.82e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;1.04e-26)|all cancers(26;7.68e-24)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			ATGAAGGTTGCGGCCCAAAAC	0.418													T	39883120	C	T	39883120	3	4	137	1	0	0	0	0	1	0	0	0	9522	768	27	1	302	1	MED29	19	39883120	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	1979584	39883120	19245863	57	9236											
ZNF229	7772	broad.mit.edu	37	chr19	44932748	44932748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatctgtatggcttctcGccagtgtgcactctcttatg	5	15	10	11	1	3	0	0	0	3	0	5	0	3	0	1	2	1	4	1	2	2	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:44932748G>A	uc002oze.1	-	5	2642	c.2208C>T	c.(2206-2208)ggC>ggT	p.G736G	ZNF229_uc010ejk.1_Silent_p.G390G|ZNF229_uc010ejl.1_Silent_p.G730G	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	736					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G736G(4)		breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ATGGCTTCTCGCCAGTGTGCA	0.488													A	44932748	G	A	44932748	2	1	137	1	0	0	0	0	0	0	0	1	17883	1074	38	1		1	ZNF229	19	44932748	Silent	SNP	G	TCGA-14-1395-01B-11D-1845-08	5049628	44932748	14196235	58	9237											
GRIN2D	2906	broad.mit.edu	37	chr19	48919313	48919313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcaccatcaacgaggagCgctccgagatcgtggacttc	9	7	10	15	4	2	1	2	0	0	1	5	5	3	3	3	2	2	1	3	2	1	1			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:48919313C>T	uc002pjc.4	+	6	1724	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C		NM_000836	NP_000827	O15399	NMDE4_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2D (GRIN2D), mRNA.	546						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CAACGAGGAGCGCTCCGAGAT	0.672													T	48919313	C	T	48919313	3	4	137	1	0	0	0	0	1	0	0	0	6837	768	27	1	1658	1	GRIN2D	19	48919313	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	3986565	48919313	10209670	59	9238											
ZNF320	162967	broad.mit.edu	37	chr19	53384360	53384360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcaagatgtgatttgCgactgaaaactttgtcgcat	10	15	9	7	2	2	3	1	2	1	1	3	4	2	3	0	0	2	1	0	0	3	3			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53384360C>T	uc002qag.3	-	3	1210	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF320_uc010eqi.1_Intron|ZNF320_uc002qah.3_Missense_Mutation_p.R286H|ZNF320_uc002qai.3_Missense_Mutation_p.R340H	NM_207333	NP_997216	A2RRD8	ZN320_HUMAN	Homo sapiens zinc finger protein 320 (ZNF320), mRNA.	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		ATGTGATTTGCGACTGAAAAC	0.428													T	53384360	C	T	53384360	3	4	137	1	0	0	0	0	1	0	0	0	17940	768	27	1	514	1	ZNF320	19	53384360	Missense_Mutation	SNP	C	TCGA-14-1395-01B-11D-1845-08	4465047	53384360	5744623	60	9239											
ZNF677	342926	broad.mit.edu	37	chr19	53741592	53741592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgttgatcttttctgtGagtgagatttttgttacagg	7	20	11	3	0	2	3	0	3	2	1	2	4	2	3	0	1	1	3	0	1	1	7			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr19:53741592G>T	uc002qbg.1	-	4	539	c.388C>A	c.(388-390)Cac>Aac	p.H130N	ZNF677_uc002qbf.1_Missense_Mutation_p.H130N	NM_182609	NP_872415	Q86XU0	ZN677_HUMAN	Homo sapiens zinc finger protein 677 (ZNF677), mRNA.	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H130P(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		TCTTTTCTGTGAGTGAGATTT	0.353													T	53741592	G	T	53741592	3	4	137	1	0	0	0	0	1	0	0	0	18185	1290	45	4	1370	4	ZNF677	19	53741592	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08	357232	53741592	5387391	61	9240											
TRPM2	7226	broad.mit.edu	37	chr21	45821664	45821664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatcctctcctacttcGccttcctctgcctgttcgcc	4	14	5	18	2	2	1	0	1	2	0	7	1	4	1	6	0	3	1	6	0	2	4			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr21:45821664G>A	uc010gpt.1	+	15	2522	c.2422G>A	c.(2422-2424)Gcc>Acc	p.A808T	TRPM2_uc002zet.1_Missense_Mutation_p.A808T|TRPM2_uc002zeu.1_Missense_Mutation_p.A808T|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.A808T|TRPM2_uc002zex.1_Missense_Mutation_p.A594T|TRPM2_uc002zey.1_Missense_Mutation_p.A321T	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	808						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.F807F(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTCCTACTTCGCCTTCCTCTG	0.632													A	45821664	G	A	45821664	3	1	137	1	0	0	0	0	1	0	0	0	16687	1087	38	1	2484	1	TRPM2	21	45821664	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		45821664	2308231	62	9241											
CABIN1	23523	broad.mit.edu	37	chr22	24483514	24483514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaagcatgccacgcccGtcttgaactgcttccgtcgg	6	11	11	13	4	1	1	0	1	1	0	3	2	2	2	3	2	4	2	3	2	2	3	rs148592192		TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chr22:24483514G>A	uc002zzi.1	+	22	3500	c.3373G>A	c.(3373-3375)Gtc>Atc	p.V1125I	CABIN1_uc021wnc.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzj.1_Missense_Mutation_p.V1075I|CABIN1_uc002zzl.2_Missense_Mutation_p.V1125I	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1125					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGCCACGCCCGTCTTGAACTG	0.577													A	24483514	G	A	24483514	3	1	137	1	0	0	0	0	1	0	0	0	2554	1145	40	1	3459	1	CABIN1	22	24483514	Missense_Mutation	SNP	G	TCGA-14-1395-01B-11D-1845-08		24483514	26821052	63	9242											
MAGEC1	9947	broad.mit.edu	37	chrX	140994696	140994696	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagttcccctgagtgtacTcaaagtacttttgagggttt	9	14	10	8	0	1	3	1	2	0	1	2	3	2	3	2	1	2	4	2	1	3	6			TCGA-14-1395-01B-11D-1845-08	TCGA-14-1395-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8825b7a5-dfac-4e21-b4ec-05161b1341e9	24b4b0b6-3f83-42d6-846b-e73b3baa0fc9	g.chrX:140994696T>A	uc004fbt.3	+	3	1830	c.1506T>A	c.(1504-1506)acT>acA	p.T502T	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.T161T	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	502							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTGAGTGTACTCAAAGTACTT	0.498										HNSCC(15;0.026)			A	140994696	T	A	140994696	2	1	137	1	0	0	0	0	0	0	0	1	9255	1538	54	5		5	MAGEC1	23	140994696	Silent	SNP	T	TCGA-14-1395-01B-11D-1845-08		140994696	14275864	64	9243											
C8A	731	broad.mit.edu	37	chr1	57333307	57333307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagacgggcagctacacccGcagcagttacctgccagctg	10	6	11	14	2	0	1	0	0	0	1	0	1	0	1	3	1	6	6	3	1	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:57333307G>A	uc001cyo.2	+	1	235	c.103G>A	c.(103-105)Gca>Aca	p.A35T		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	35					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex		p.A35T(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGCTACACCCGCAGCAGTTAC	0.468													A	57333307	G	A	57333307	3	1	138	1	0	0	0	0	1	0	0	0	2440	1087	38	1	109	1	C8A	1	57333307	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		57333307	191917314	1	9244											
SRGAP2	23380	broad.mit.edu	37	chr1	121115895	121115895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagagcaaactaaaggagGcggagaagcaggaggagaag	17	2	16	6	1	1	3	1	0	0	3	1	7	1	5	0	5	3	2	0	5	5	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:121115895G>A	uc001eis.2	+	1	129	c.61G>A	c.(61-63)Gcg>Acg	p.A21T		NM_001042758	NP_001036223	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.	184					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ACTAAAGGAGGCGGAGAAGCA	0.547													A	121115895	G	A	121115895	3	1	138	1	0	0	0	0	1	0	0	0	15242	1218	42	2		2	SRGAP2	1	121115895	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	63782588	121115895	128134726	2	9245											
PRCC	5546	broad.mit.edu	37	chr1	156764463	156764463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcttttccagtttaagCggctgcagggcaagaggaac	9	13	11	8	1	1	1	0	0	1	1	2	2	2	2	1	3	3	4	1	3	3	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:156764463C>T	uc001fqa.3	+	4	1476	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W		NM_005973	NP_005964	Q92733	PRCC_HUMAN	Homo sapiens papillary renal cell carcinoma (translocation-associated) (PRCC), mRNA.	396					cell cycle|mitotic cell cycle checkpoint	nucleus	protein binding		PRCC/TFE3(25)	breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(5)|upper_aerodigestive_tract(1)	15	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCAGTTTAAGCGGCTGCAGGG	0.478			T	TFE3	papillary renal								T	156764463	C	T	156764463	3	4	138	1	0	0	0	0	1	0	0	0	12533	759	27	1	1204	1	PRCC	1	156764463	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	35648568	156764463	92486158	3	9246											
CACNA1E	777	broad.mit.edu	37	chr1	181689358	181689358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggtattgggcttccctaCggaatttggtggtctccttg	5	15	13	8	1	1	0	0	0	1	0	3	1	2	1	2	5	1	3	2	5	4	7			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:181689358C>T	uc009wxt.3	+	13	1963	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	CACNA1E_uc001gow.3_Missense_Mutation_p.R590W|CACNA1E_uc009wxs.3_Missense_Mutation_p.R590W	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	590					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R590W(4)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGCTTCCCTACGGAATTTGGT	0.478													T	181689358	C	T	181689358	3	4	138	1	0	0	0	0	1	0	0	0	2568	527	19	1	1822	1	CACNA1E	1	181689358	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	24924895	181689358	67561263	4	9247											
PROX1	5629	broad.mit.edu	37	chr1	214170642	214170642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgcgccagctgcaggAaaagttctaccaaatctatg	13	8	9	11	1	2	0	0	0	2	0	2	1	2	1	2	1	5	4	2	1	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr1:214170642A>G	uc001hkh.3	+	1	1036	c.764A>G	c.(763-765)gAa>gGa	p.E255G	PROX1_uc001hkg.1_Missense_Mutation_p.E255G	NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	255					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CAGCTGCAGGAAAAGTTCTAC	0.532													G	214170642	A	G	214170642	3	3	138	1	0	0	0	0	1	0	0	0	12646	246	9	3	766	3	PROX1	1	214170642	Missense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	32481284	214170642	35079979	5	9248											
HEATR5B	54497	broad.mit.edu	37	chr2	37215846	37215846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacttttattccttcttgaaCcgctaaaagctctatgttac	11	16	4	10	1	2	1	0	1	2	0	3	1	3	1	2	0	4	3	2	0	7	8			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:37215846C>T	uc002rpp.1	-	34	5950	c.5854G>A	c.(5854-5856)Gtt>Att	p.V1952I	HEATR5B_uc010ezy.1_Missense_Mutation_p.V447I	NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	1952							binding	p.A1951A(1)		breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CCTTCTTGAACCGCTAAAAGC	0.348													T	37215846	C	T	37215846	3	4	138	1	0	0	0	0	1	0	0	0	7087	507	18	2	369	2	HEATR5B	2	37215846	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		37215846	205983527	6	9249											
RGPD4	285190	broad.mit.edu	37	chr2	108443529	108443529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtgcagggctccgccccGtcgcctcgaaaggtgagtgg	5	7	15	14	5	0	1	0	1	0	0	4	2	2	1	5	3	1	2	5	3	1	0			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:108443529G>A	uc010ywk.2	+	0	142	c.60G>A	c.(58-60)ccG>ccA	p.P20P	LOC729121_uc010ywj.1_5'Flank|LOC729121_uc002tdt.2_5'Flank	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	20					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCTCCGCCCCGTCGCCTCGAA	0.711													A	108443529	G	A	108443529	2	1	138	1	0	0	0	0	0	0	0	1	13376	1132	40	1		1	RGPD4	2	108443529	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	71227683	108443529	134755844	7	9250											
IL1RN	3557	broad.mit.edu	37	chr2	113890404	113890404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcaccaatatgcctgacGaaggcgtcatggtcaccaaa	12	7	9	13	2	3	1	3	1	0	0	3	2	3	1	4	2	1	0	4	2	4	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:113890404G>A	uc002tjb.3	+	3	554	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	IL1RN_uc002tix.1_Non-coding_Transcript|IL1RN_uc002tiz.3_Missense_Mutation_p.E167K|IL1RN_uc002tiy.3_Missense_Mutation_p.E130K|IL1RN_uc002tja.3_Missense_Mutation_p.E146K	NM_173842	NP_776215	P18510	IL1RA_HUMAN	Homo sapiens interleukin 1 receptor antagonist (IL1RN), transcript variant 1, mRNA.	164					immune response|inflammatory response|response to glucocorticoid stimulus	centrosome|extracellular space|nucleus|plasma membrane	cytokine activity|interleukin-1 receptor antagonist activity			breast(1)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	10					Anakinra(DB00026)	TATGCCTGACGAAGGCGTCAT	0.592									Lichen Sclerosis et Atrophicus, Familial Clustering of				A	113890404	G	A	113890404	3	1	138	1	0	0	0	0	1	0	0	0	7723	1059	37	1	585	1	IL1RN	2	113890404	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	5446875	113890404	129308969	8	9251											
ALPPL2	251	broad.mit.edu	37	chr2	233274348	233274348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacccacgcaggcgaggaCgtggcggtgttcgcgcgcgg	6	4	19	12	8	0	1	0	0	0	1	1	4	0	2	1	5	0	2	1	5	0	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr2:233274348C>T	uc002vss.4	+	10	1418	c.1365C>T	c.(1363-1365)gaC>gaT	p.D455D		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	455					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CAGGCGAGGACGTGGCGGTGT	0.662													T	233274348	C	T	233274348	2	4	138	1	0	0	0	0	0	0	0	1	549	535	19	1		1	ALPPL2	2	233274348	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	119383944	233274348	9925025	9	9252											
CSN3	1448	broad.mit.edu	37	chr4	71114964	71114964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtacgtcgcccaaacCtgcatccatcatttattgcc	8	12	7	14	2	1	0	1	0	0	0	3	0	2	0	4	1	4	2	4	1	3	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:71114964C>A	uc003hfe.4	+	3	395	c.337C>A	c.(337-339)Ctg>Atg	p.L113M		NM_005212	NP_005203	P07498	CASK_HUMAN	Homo sapiens casein kappa (CSN3), mRNA.	113						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCGCCCAAACCTGCATCCATC	0.468													A	71114964	C	A	71114964	3	1	138	1	0	0	0	0	1	0	0	0	3982	680	24	4	347	4	CSN3	4	71114964	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		71114964	120039312	10	9253											
ANKRD17	26057	broad.mit.edu	37	chr4	73984505	73984505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaccacatcgaggtgtccaCcatttgctgctagccacaat	11	9	8	13	1	0	0	0	0	0	0	2	2	1	0	4	1	4	2	4	1	3	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:73984505C>T	uc003hgp.3	-	21	4205	c.4088G>A	c.(4087-4089)gGt>gAt	p.G1363D	ANKRD17_uc003hgo.3_Missense_Mutation_p.G1250D|ANKRD17_uc003hgq.3_Missense_Mutation_p.G1112D|ANKRD17_uc003hgr.3_Missense_Mutation_p.G1362D|ANKRD17_uc011cbd.1_Missense_Mutation_p.G928D	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1363					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGGTGTCCACCATTTGCTGC	0.443													T	73984505	C	T	73984505	3	4	138	1	0	0	0	0	1	0	0	0	646	507	18	2	3775	2	ANKRD17	4	73984505	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	2869541	73984505	117169771	11	9254											
ADH1B	125	broad.mit.edu	37	chr4	100239237	100239237	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccccttctccaacactCtccacgatgccggctgcctc	6	9	6	20	2	3	0	1	0	2	0	6	1	3	0	6	1	3	1	6	1	1	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100239237C>A	uc003hus.4	-	2	309	c.225G>T	c.(223-225)gaG>gaT	p.E75D	ADH1B_uc003hut.4_Missense_Mutation_p.E35D|ADH1B_uc011ceh.2_5'UTR|ADH1B_uc011cei.1_Missense_Mutation_p.E35D	NM_000668	NP_000659	P00325	ADH1B_HUMAN	Homo sapiens alcohol dehydrogenase 1B (class I), beta polypeptide (ADH1B), mRNA.	75					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding	p.V74M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCCAACACTCTCCACGATGC	0.537													A	100239237	C	A	100239237	3	1	138	1	0	0	0	0	1	0	0	0	308	912	32	4	930	4	ADH1B	4	100239237	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	26254732	100239237	90915039	12	9255											
ADH1C	126	broad.mit.edu	37	chr4	100268197	100268197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaccccttctcaaacactTtccacgatgccggctgcctc	7	10	6	18	2	2	0	2	0	1	0	5	1	3	0	5	1	3	1	5	1	1	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:100268197T>A	uc021xqi.1	-	2		c.310A>T				NM_000669		P00326	ADH1G_HUMAN	Homo sapiens alcohol dehydrogenase 1C (class I), gamma polypeptide (ADH1C), mRNA.						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CTCAAACACTTTCCACGATGC	0.517													A	100268197	T	A	100268197	3	1	138	1	0	0	0	0	1	0	0	0	309	1838	64	5	930	5	ADH1C	4	100268197	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	28960	100268197	90886079	13	9256											
MMAA	166785	broad.mit.edu	37	chr4	146576356	146576356	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgtgggataaaatgAaagatttccaggacctaatg	16	10	10	5	0	0	3	0	2	0	1	1	5	1	5	2	2	0	0	2	2	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:146576356A>T	uc003ikh.4	+	6	1112	c.1027A>T	c.(1027-1029)Aaa>Taa	p.K343*	MMAA_uc010iow.3_Non-coding_Transcript	NM_172250	NP_758454	Q8IVH4	MMAA_HUMAN	Homo sapiens methylmalonic aciduria (cobalamin deficiency) cblA type (MMAA), nuclear gene encoding mitochondrial protein, mRNA.	343						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATAAAATGAAAGATTTCCA	0.428													T	146576356	A	T	146576356	4	4	138	1	0	0	0	0	0	1	0	0	9714	247	9	5	1049	5	MMAA	4	146576356	Nonsense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	46308159	146576356	44577920	14	9257											
CCDC110	256309	broad.mit.edu	37	chr4	186382220	186382220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaaatccttttcaatgcGcgtgccaaacaccagatttt	12	12	5	12	2	1	1	1	0	0	1	2	1	2	1	4	0	4	0	4	0	4	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr4:186382220G>A	uc003ixu.4	-	4	407	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	CCDC110_uc003ixv.4_Intron|CCDC110_uc011ckt.1_Missense_Mutation_p.R111C	NM_152775	NP_689988	Q8TBZ0	CC110_HUMAN	Homo sapiens coiled-coil domain containing 110 (CCDC110), transcript variant 1, mRNA.	111						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTTCAATGCGCGTGCCAAAC	0.338													A	186382220	G	A	186382220	3	1	138	1	0	0	0	0	1	0	0	0	2773	1087	38	1	2182	1	CCDC110	4	186382220	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	39805864	186382220	4772056	15	9258											
FBN2	2201	broad.mit.edu	37	chr5	127671244	127671244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgggtgtcacagcctccGttcattatcatacattcatc	9	13	6	13	1	4	0	4	0	0	0	6	0	5	0	2	1	2	1	2	1	2	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:127671244G>A	uc003kuu.3	-	28	4189	c.3750C>T	c.(3748-3750)aaC>aaT	p.N1250N	FBN2_uc003kuv.2_Silent_p.N1217N	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1250	EGF-like 19; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CACAGCCTCCGTTCATTATCA	0.438													A	127671244	G	A	127671244	2	1	138	1	0	0	0	0	0	0	0	1	5752	1136	40	1		1	FBN2	5	127671244	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		127671244	53244016	16	9259											
PCDHAC2	56145	broad.mit.edu	37	chr5	140181057	140181057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaattctcggatagaccGcgaggaactgtgcgggcgga	9	8	16	8	5	1	2	0	1	1	1	2	6	1	5	1	4	2	0	1	4	3	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:140181057G>A	uc003lhf.2	+	0	275	c.275G>A	c.(274-276)cGc>cAc	p.R92H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.R92H	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	107	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGATAGACCGCGAGGAACTG	0.587													A	140181057	G	A	140181057	3	1	138	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140181057	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	12509813	140181057	40734203	17	9260											
N4BP3	23138	broad.mit.edu	37	chr5	177547367	177547367	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggcacagctgctgcaCgccctcagcctagatgaggg	7	5	14	15	2	1	2	1	1	0	1	1	2	1	2	3	2	4	4	3	2	1	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:177547367C>T	uc003mik.1	+	2	766	c.519C>T	c.(517-519)caC>caT	p.H173H	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	173						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGCTGCACGCCCTCAGCC	0.711													T	177547367	C	T	177547367	2	4	138	1	0	0	0	0	0	0	0	1	10189	535	19	1		1	N4BP3	5	177547367	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	37366310	177547367	3367893	18	9261											
OR2Y1	134083	broad.mit.edu	37	chr5	180166656	180166656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagatgggggtgcatgaTggccatgtagtggagtggac	9	8	19	5	0	0	2	0	1	0	1	0	5	0	4	1	5	1	3	1	5	1	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr5:180166656T>C	uc003mmf.1	-	0	403	c.403A>G	c.(403-405)Atc>Gtc	p.I135V		NM_001001657	NP_001001657	Q8NGV0	OR2Y1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Y, member 1 (OR2Y1), mRNA.	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTGCATGATGGCCATGTAG	0.587													C	180166656	T	C	180166656	3	2	138	1	0	0	0	0	1	0	0	0	11111	1464	51	3	536	3	OR2Y1	5	180166656	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	2619289	180166656	748604	19	9262											
PKHD1	5314	broad.mit.edu	37	chr6	51918901	51918901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaccatgttttgaaagccGattgtgaaggacacaatcat	13	13	8	7	1	1	2	1	2	0	0	1	4	1	3	2	1	2	1	2	1	4	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:51918901G>A	uc003pah.1	-	19	2175	c.1899C>T	c.(1897-1899)atC>atT	p.I633I	PKHD1_uc003pai.3_Silent_p.I633I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	633					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGAAAGCCGATTGTGAAGG	0.478													A	51918901	G	A	51918901	2	1	138	1	0	0	0	0	0	0	0	1	12048	1048	37	1		1	PKHD1	6	51918901	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		51918901	119196166	20	9263											
NMBR	4829	broad.mit.edu	37	chr6	142397171	142397171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcacaattttagccaggcGtttccgtgtttccatctgca	9	13	8	11	2	1	0	0	0	1	0	3	0	3	0	3	1	3	4	3	1	3	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:142397171G>A	uc003qiu.3	-	2	928	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	263					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TTAGCCAGGCGTTTCCGTGTT	0.388													A	142397171	G	A	142397171	3	1	138	1	0	0	0	0	1	0	0	0	10563	1145	40	1	389	1	NMBR	6	142397171	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	90478270	142397171	28717896	21	9264											
PPP1R14C	81706	broad.mit.edu	37	chr6	150464589	150464589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcggaagcggctggtgctGgaggaatggatcgtggagca	8	8	18	7	3	0	0	0	0	0	0	2	5	0	5	0	7	3	3	0	7	2	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr6:150464589G>A	uc003qnt.3	+	0	402	c.261G>A	c.(259-261)ctG>ctA	p.L87L		NM_030949	NP_112211	Q8TAE6	PP14C_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 14C (PPP1R14C), mRNA.	87					regulation of phosphorylation	cytoplasm|membrane				endometrium(1)|large_intestine(1)|prostate(1)	3		Ovarian(120;0.0284)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;9.14e-12)		GGCTGGTGCTGGAGGAATGGA	0.637													A	150464589	G	A	150464589	2	1	138	1	0	0	0	0	0	0	0	1	12443	1335	47	2		2	PPP1R14C	6	150464589	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	8067418	150464589	20650478	22	9265											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067222	18067222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattagactgtcgttgatttCgccacaaccactctgaacga	11	11	7	12	3	1	3	0	2	1	1	3	4	1	3	2	0	2	1	2	0	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:18067222C>T	uc003stz.3	-	0	265	c.184G>A	c.(184-186)Gaa>Aaa	p.E62K		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	62					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TCGTTGATTTCGCCACAACCA	0.473													T	18067222	C	T	18067222	3	4	138	1	0	0	0	0	1	0	0	0	12665	893	31	1	776	1	PRPS1L1	7	18067222	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		18067222	141071441	23	9266											
MLXIPL	51085	broad.mit.edu	37	chr7	73011080	73011080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggtgtaggggccggggtcgGgggaaggaatgtgcagggga	7	5	24	5	3	0	0	0	0	0	0	1	3	0	3	1	10	1	2	1	10	3	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:73011080G>A	uc003tyn.1	-	10	1759	c.1711C>T	c.(1711-1713)Ccg>Tcg	p.P571S	MLXIPL_uc003tyj.1_Intron|MLXIPL_uc003tyk.1_Missense_Mutation_p.P571S|MLXIPL_uc003tym.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyl.1_Missense_Mutation_p.P571S|MLXIPL_uc003tyo.1_Intron|MLXIPL_uc003typ.1_Missense_Mutation_p.P477S|MLXIPL_uc003tyq.1_Missense_Mutation_p.P338S	NM_032951	NP_116569	Q9NP71	WBS14_HUMAN	Homo sapiens MLX interacting protein-like (MLXIPL), transcript variant 1, mRNA.	571					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCCGGGGTCGGGGGAAGGAAT	0.701													A	73011080	G	A	73011080	3	1	138	1	0	0	0	0	1	0	0	0	9712	1232	43	2	875	2	MLXIPL	7	73011080	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	54943858	73011080	86127583	24	9267											
DYNC1I1	1780	broad.mit.edu	37	chr7	95616403	95616403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaatctttctttcaatcGtcagttctatgatgaacatt	11	16	5	9	1	5	2	2	2	3	0	6	2	5	2	1	0	2	1	1	0	4	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:95616403G>A	uc003uoc.4	+	8	1107	c.830G>A	c.(829-831)cGt>cAt	p.R277H	DYNC1I1_uc003uod.4_Missense_Mutation_p.R260H|DYNC1I1_uc003uob.3_Missense_Mutation_p.R240H|DYNC1I1_uc003uoe.4_Missense_Mutation_p.R257H|DYNC1I1_uc010lfl.3_Missense_Mutation_p.R266H	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	277					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTTTCAATCGTCAGTTCTAT	0.443													A	95616403	G	A	95616403	3	1	138	1	0	0	0	0	1	0	0	0	4881	1145	40	1	860	1	DYNC1I1	7	95616403	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	22605323	95616403	63522260	25	9268											
CYP3A7	1577	broad.mit.edu	37	chr7	99332692	99332692	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaagccaggtttccaCggccaagtttgggatgagat	11	8	14	8	1	0	2	0	1	0	2	1	5	1	3	3	4	1	2	3	4	2	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:99332692C>T	uc003uru.3	-	0	128	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urs.3_5'UTR|CYP3A7_uc010lgg.3_Missense_Mutation_p.V9M	NM_000765	NP_000756	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 7 (CYP3A7), mRNA.	9					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGGTTTCCACGGCCAAGTTT	0.498													T	99332692	C	T	99332692	1	4	138	1	0	0	0	0	0	0	0	0	4214	536	19	1		1	CYP3A7	7	99332692	Translation_Start_Site	SNP	C	TCGA-14-1450-01B-01D-1845-08	3716289	99332692	59805971	26	9269											
MLL5	55904	broad.mit.edu	37	chr7	104681416	104681416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgagcatagtgatccCattgggggttgatacagcag	10	10	13	8	1	1	3	1	3	0	0	2	3	2	3	1	2	3	3	1	2	2	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:104681416C>T	uc003vcm.3	+	2	551	c.17C>T	c.(16-18)cCa>cTa	p.P6L	MLL5_uc010lja.1_5'UTR|MLL5_uc010ljb.1_Missense_Mutation_p.P6L|MLL5_uc003vcl.3_Missense_Mutation_p.P6L|MLL5_uc010ljc.3_Missense_Mutation_p.P6L	NM_182931	NP_891847	Q8IZD2	MLL5_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila) (MLL5), transcript variant 1, mRNA.	6					cell cycle arrest|cellular response to retinoic acid|DNA methylation|erythrocyte differentiation|neutrophil activation|neutrophil mediated immunity|positive regulation of granulocyte differentiation|positive regulation of transcription, DNA-dependent|retinoic acid receptor signaling pathway|transcription, DNA-dependent	MLL5-L complex|nuclear speck	enzyme binding|histone methyltransferase activity (H3-K4 specific)|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(13)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	63						ATAGTGATCCCATTGGGGGTT	0.428													T	104681416	C	T	104681416	3	4	138	1	0	0	0	0	1	0	0	0	9699	594	21	2	19	2	MLL5	7	104681416	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	5348724	104681416	54457247	27	9270											
PRKAR2B	5577	broad.mit.edu	37	chr7	106786905	106786905	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgctctgtggggttTggtgagtaaaatacttattt	7	17	12	5	0	1	1	0	1	1	0	2	1	2	1	1	4	2	3	1	4	4	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr7:106786905T>G	uc003vdx.3	+	6	916	c.741_splice	c.e6+1	p.L247_splice		NM_002736	NP_002727	P31323	KAP3_HUMAN	Homo sapiens protein kinase, cAMP-dependent, regulatory, type II, beta (PRKAR2B), mRNA.	247					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G2/M transition of mitotic cell cycle|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|transmembrane transport|water transport	centrosome|cytosol|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	14						CTGTGGGGTTTGGTGAGTAAA	0.398													G	106786905	T	G	106786905	3	3	138	1	0	0	0	0	1	0	0	0	12592	1826	63	5	762	5	PRKAR2B	7	106786905	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	2105489	106786905	52351758	28	9271											
DNAJB5	25822	broad.mit.edu	37	chr9	34996743	34996743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccttccccaaagaaggCgacgccacacctgacaacat	14	5	6	16	2	1	2	1	1	0	1	2	3	2	2	5	1	1	0	5	1	3	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:34996743C>T	uc011los.2	+	2	1270	c.909C>T	c.(907-909)ggC>ggT	p.G303G	DNAJB5_uc003zvs.3_Silent_p.G265G|DNAJB5_uc003zvt.3_Silent_p.G231G	NM_001135005	NP_036398	O75953	DNJB5_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 5 (DNAJB5), transcript variant 1, mRNA.	231					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCAAAGAAGGCGACGCCACAC	0.562													T	34996743	C	T	34996743	2	4	138	1	0	0	0	0	0	0	0	1	4662	755	27	1		1	DNAJB5	9	34996743	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		34996743	106216688	29	9272											
OR13C5	138799	broad.mit.edu	37	chr9	107360795	107360795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcctccttcacatccttGtttctaagactgtagattaa	10	15	5	11	0	2	2	1	0	1	2	4	2	4	2	3	0	1	2	3	0	3	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr9:107360795G>T	uc011lvp.2	-	0	900	c.900C>A	c.(898-900)aaC>aaA	p.N300K		NM_001004482	NP_001004482	Q8NGS8	O13C5_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 5 (OR13C5), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TCACATCCTTGTTTCTAAGAC	0.338													T	107360795	G	T	107360795	3	4	138	1	0	0	0	0	1	0	0	0	11013	1368	48	4	58	4	OR13C5	9	107360795	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	72364052	107360795	33852636	30	9273											
SH2D4B	387694	broad.mit.edu	37	chr10	82330026	82330026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatctctgaggagctgattGcagagagggcgcggctgcag	9	7	17	8	2	1	4	0	2	1	2	2	6	1	5	0	3	3	4	0	3	0	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:82330026G>T	uc001kck.1	+	1	731	c.301G>T	c.(301-303)Gca>Tca	p.A101S	SH2D4B_uc001kcl.1_Missense_Mutation_p.A52S	NM_207372	NP_997255	Q5SQS7	SH24B_HUMAN	Homo sapiens SH2 domain containing 4B (SH2D4B), transcript variant 1, mRNA.	100	Glu-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(6)	13			Colorectal(32;0.229)			GGAGCTGATTGCAGAGAGGGC	0.602													T	82330026	G	T	82330026	3	4	138	1	0	0	0	0	1	0	0	0	14329	1319	46	4	348	4	SH2D4B	10	82330026	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		82330026	53204721	31	9274											
FAM178A	55719	broad.mit.edu	37	chr10	102710503	102710503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcattctttttcttctgGacaacgggtaggtagtgttt	6	19	9	7	1	4	0	1	0	4	0	5	1	4	1	0	3	1	3	0	3	3	8			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:102710503G>A	uc001krs.3	+	16	3865	c.3323G>A	c.(3322-3324)gGa>gAa	p.G1108E	FAM178A_uc001krt.4_Missense_Mutation_p.G1108E	NM_001136123	NP_001129595	Q8IX21	F178A_HUMAN	Homo sapiens family with sequence similarity 178, member A (FAM178A), transcript variant 2, mRNA.	1108																	TTTTCTTCTGGACAACGGGTA	0.353													A	102710503	G	A	102710503	3	1	138	1	0	0	0	0	1	0	0	0	5548	1174	41	2	3389	2	FAM178A	10	102710503	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	20380477	102710503	32824244	32	9275											
TRIM8	81603	broad.mit.edu	37	chr10	104404874	104404874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccgtgtgccagtactGctgctactacagcggcgcgc	5	8	15	13	4	0	0	0	0	0	0	0	0	0	0	2	3	7	3	2	3	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:104404874G>A	uc001kvz.2	+	0	623	c.500G>A	c.(499-501)tGc>tAc	p.C167Y		NM_030912	NP_112174	Q9BZR9	TRIM8_HUMAN	Homo sapiens tripartite motif containing 8 (TRIM8), mRNA.	167						cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TGCCAGTACTGCTGCTACTAC	0.667													A	104404874	G	A	104404874	3	1	138	1	0	0	0	0	1	0	0	0	16649	1319	46	2	502	2	TRIM8	10	104404874	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	1694371	104404874	31129873	33	9276											
NRAP	4892	broad.mit.edu	37	chr10	115388695	115388695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgaccagctgtccaGccttcttggcttgttccaag	5	12	9	15	1	1	1	0	1	1	0	4	1	3	1	5	1	2	4	5	1	1	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:115388695G>A	uc001lal.3	-	19	2290	c.2126C>T	c.(2125-2127)gCt>gTt	p.A709V	NRAP_uc009xyb.3_Missense_Mutation_p.A20V|NRAP_uc001laj.3_Missense_Mutation_p.A709V|NRAP_uc001lak.3_Missense_Mutation_p.A674V	NM_198060	NP_932326	Q86VF7	NRAP_HUMAN	Homo sapiens nebulin-related anchoring protein (NRAP), transcript variant 2, mRNA.	709						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGCTGTCCAGCCTTCTTGGC	0.547													A	115388695	G	A	115388695	3	1	138	1	0	0	0	0	1	0	0	0	10714	971	34	2	3158	2	NRAP	10	115388695	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	10983821	115388695	20146052	34	9277											
GFRA1	2674	broad.mit.edu	37	chr10	117884937	117884937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgtggcacttgcggcGgttgcagacatcgttggaca	6	10	15	10	3	0	1	0	0	0	1	1	2	0	2	1	5	2	4	1	5	0	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:117884937G>A	uc001lcj.3	-	5	1263	c.565C>T	c.(565-567)Cgc>Tgc	p.R189C	GFRA1_uc001lci.3_Missense_Mutation_p.R184C|GFRA1_uc009xyr.3_Missense_Mutation_p.R184C	NM_005264	NP_005255	P56159	GFRA1_HUMAN	Homo sapiens GDNF family receptor alpha 1 (GFRA1), transcript variant 1, mRNA.	189					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CACTTGCGGCGGTTGCAGACA	0.607													A	117884937	G	A	117884937	3	1	138	1	0	0	0	0	1	0	0	0	6403	1116	39	1	856	1	GFRA1	10	117884937	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	2496242	117884937	17649810	35	9278											
MKI67	4288	broad.mit.edu	37	chr10	129905312	129905312	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcctcagtgtgacctcGtgtctggaagagctctttaa	8	14	10	9	1	3	3	1	2	2	1	5	4	4	4	2	1	1	1	2	1	2	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr10:129905312G>A	uc001lke.3	-	12	4987	c.4792C>T	c.(4792-4794)Cga>Tga	p.R1598*	MKI67_uc001lkf.3_Nonsense_Mutation_p.R1238*|MKI67_uc009yav.1_Nonsense_Mutation_p.R1173*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R748*	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1598	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTGTGACCTCGTGTCTGGAAG	0.488													A	129905312	G	A	129905312	4	1	138	1	0	0	0	0	0	1	0	0	9673	1153	40	1	4990	1	MKI67	10	129905312	Nonsense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	12020375	129905312	5629435	36	9279											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195645	18195645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggctcctttaggcagcGtcaaaataggcagaacctga	11	8	12	10	2	1	2	1	1	0	1	2	2	2	2	2	3	2	3	2	3	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:18195645G>A	uc001mnv.1	+	0	1262	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_054032	NP_473373	Q96LA9	MRGX4_HUMAN	Homo sapiens MAS-related GPR, member X4 (MRGPRX4), mRNA.	281						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TTTAGGCAGCGTCAAAATAGG	0.498													A	18195645	G	A	18195645	3	1	138	1	0	0	0	0	1	0	0	0	9845	1145	40	1	844	1	MRGPRX4	11	18195645	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08		18195645	116810871	37	9280											
OR5D18	219438	broad.mit.edu	37	chr11	55587380	55587380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgttgtcaaagacagaaCcatttcatttttaggatgcg	11	14	8	8	1	2	2	2	0	0	2	2	3	2	3	2	1	2	1	2	1	3	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:55587380C>A	uc010rin.2	+	0	275	c.275C>A	c.(274-276)aCc>aAc	p.T92N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AAAGACAGAACCATTTCATTT	0.418													A	55587380	C	A	55587380	3	1	138	1	0	0	0	0	1	0	0	0	11233	507	18	4	277	4	OR5D18	11	55587380	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	37391735	55587380	79419136	38	9281											
LRRC55	219527	broad.mit.edu	37	chr11	56949947	56949947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccacaacccctggctgCggagggtgcatccccaggcc	7	5	13	16	1	0	1	0	1	0	0	1	2	1	2	6	4	4	2	6	4	1	0			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:56949947C>T	uc001njl.2	+	0	727	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_001005210	NP_001005210	Q6ZSA7	LRC55_HUMAN	Homo sapiens leucine rich repeat containing 55 (LRRC55), mRNA.	164						integral to membrane		p.R194R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CCCCTGGCTGCGGAGGGTGCA	0.617													T	56949947	C	T	56949947	3	4	138	1	0	0	0	0	1	0	0	0	9081	759	27	1	582	1	LRRC55	11	56949947	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	1362567	56949947	78056569	39	9282											
GLYATL2	219970	broad.mit.edu	37	chr11	58605817	58605817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaaagggtttttatcttTtatgttgaaaatggcgccat	10	17	10	4	1	1	2	0	2	1	0	1	2	1	2	1	2	0	3	1	2	5	7			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:58605817T>C	uc001nnd.4	-	2	234	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	GLYATL2_uc009ymq.3_Missense_Mutation_p.K35E	NM_145016	NP_659453	Q8WU03	GLYL2_HUMAN	Homo sapiens glycine-N-acyltransferase-like 2 (GLYATL2), mRNA.	35						mitochondrion	glycine N-acyltransferase activity			breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	23		Breast(21;0.0044)|all_epithelial(135;0.0216)			Glycine(DB00145)	TTTTTATCTTTTATGTTGAAA	0.423													C	58605817	T	C	58605817	3	2	138	1	0	0	0	0	1	0	0	0	6537	1850	64	3	797	3	GLYATL2	11	58605817	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	1655870	58605817	76400699	40	9283											
C11orf82	220042	broad.mit.edu	37	chr11	82643154	82643154	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaacagataatgatgatttTtcagcttcagaacaaagtaa	17	12	6	6	0	2	4	2	2	0	2	2	4	2	4	0	0	3	2	0	0	5	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:82643154T>A	uc001ozt.3	+	5	1018	c.774T>A	c.(772-774)ttT>ttA	p.F258L	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_5'UTR|C11orf82_uc009yvd.2_Intron	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	258					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATGATGATTTTTCAGCTTCAG	0.413													A	82643154	T	A	82643154	3	1	138	1	0	0	0	0	1	0	0	0	1677	1838	64	5	788	5	C11orf82	11	82643154	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	24037337	82643154	52363362	41	9284											
DDX10	1662	broad.mit.edu	37	chr11	108788719	108788719	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagctctgaagattcagaTagtgaagatatggaaaataa	19	9	10	3	0	2	6	1	2	1	4	2	7	2	7	0	1	1	1	0	1	8	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:108788719T>C	uc001pkm.3	+	16	2489	c.2424T>C	c.(2422-2424)gaT>gaC	p.D808D	DDX10_uc001pkl.1_Silent_p.D808D	NM_004398	NP_004389	Q13206	DDX10_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 10 (DDX10), mRNA.	808							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		AAGATTCAGATAGTGAAGATA	0.343			T	NUP98	AML*								C	108788719	T	C	108788719	2	2	138	1	0	0	0	0	0	0	0	1	4376	1403	49	3		3	DDX10	11	108788719	Silent	SNP	T	TCGA-14-1450-01B-01D-1845-08	26145565	108788719	26217797	42	9285											
FAM55D	54827	broad.mit.edu	37	chr11	114453240	114453240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtgaagatcaccctGtcatagccttggttccttgc	7	12	10	12	0	2	2	2	1	0	1	3	2	3	2	4	2	2	1	4	2	2	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:114453240G>A	uc001ppc.3	-	2	781	c.600C>T	c.(598-600)gaC>gaT	p.D200D	FAM55D_uc001ppd.3_Intron	NM_001077639	NP_001071107	Q6UWF7	FA55D_HUMAN	Homo sapiens family with sequence similarity 55, member D (FAM55D), transcript variant 1, mRNA.	200						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(17)|ovary(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.82e-06)|Epithelial(105;0.000129)|all cancers(92;0.000938)		AGATCACCCTGTCATAGCCTT	0.532													A	114453240	G	A	114453240	2	1	138	1	0	0	0	0	0	0	0	1	5637	1368	48	2		2	FAM55D	11	114453240	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	5664521	114453240	20553276	43	9286											
ETS1	2113	broad.mit.edu	37	chr11	128354828	128354828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggtctcggagaatgaccGaggggtagtcattctcatac	10	9	14	8	2	3	2	2	1	2	1	5	5	3	2	1	4	1	1	1	4	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr11:128354828G>A	uc010sbs.1	-	4	936	c.620C>T	c.(619-621)tCg>tTg	p.S207L	ETS1_uc001qej.2_Missense_Mutation_p.S251L|ETS1_uc009zch.2_Intron|ETS1_uc009zcg.2_Missense_Mutation_p.S207L	NM_005238	NP_005229	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 2, mRNA.	207					cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.S207L(2)|p.S251L(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GAGAATGACCGAGGGGTAGTC	0.522													A	128354828	G	A	128354828	3	1	138	1	0	0	0	0	1	0	0	0	5316	1059	37	1	721	1	ETS1	11	128354828	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	13901588	128354828	6651688	44	9287											
GDF3	9573	broad.mit.edu	37	chr12	7848193	7848193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagatataaggcacaggttgGaacttctggggtgaaggcgc	12	8	15	6	1	1	2	0	1	1	1	1	3	1	3	0	6	1	2	0	6	5	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:7848193G>A	uc001qte.3	-	0	168	c.132C>T	c.(130-132)ttC>ttT	p.F44F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	44					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GCACAGGTTGGAACTTCTGGG	0.498													A	7848193	G	A	7848193	2	1	138	1	0	0	0	0	0	0	0	1	6371	1165	41	2		2	GDF3	12	7848193	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08		7848193	126003702	45	9288											
GLI1	2735	broad.mit.edu	37	chr12	57861990	57861990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggaaagcagactgactGtgccagagggtgccatggtg	10	6	18	7	0	0	3	0	1	0	2	0	5	0	5	2	4	3	1	2	4	1	0			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:57861990G>C	uc001snx.3	+	9	1385	c.1291G>C	c.(1291-1293)Gtg>Ctg	p.V431L	GLI1_uc021qzi.1_Missense_Mutation_p.V390L|GLI1_uc009zpq.3_Missense_Mutation_p.V303L	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	431					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			CAGACTGACTGTGCCAGAGGG	0.602													C	57861990	G	C	57861990	3	2	138	1	0	0	0	0	1	0	0	0	6493	1377	48	4	1325	4	GLI1	12	57861990	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	50013797	57861990	75989905	46	9289											
LGR5	8549	broad.mit.edu	37	chr12	71974190	71974190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataagaaagatgctggaatGtttcaggctcaaggtaggac	14	9	12	6	0	2	2	2	0	0	2	2	4	2	4	0	4	1	4	0	4	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:71974190G>A	uc001swl.3	+	15	1587	c.1539G>A	c.(1537-1539)atG>atA	p.M513I	LGR5_uc001swm.3_Missense_Mutation_p.M489I|LGR5_uc021rar.1_Missense_Mutation_p.M441I|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	513						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						ATGCTGGAATGTTTCAGGCTC	0.388													A	71974190	G	A	71974190	3	1	138	1	0	0	0	0	1	0	0	0	8817	1377	48	2	1601	2	LGR5	12	71974190	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	14112200	71974190	61877705	47	9290											
C12orf51	283450	broad.mit.edu	37	chr12	112622897	112622897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgaggaggaggaggaCgagtcactgagatttggggc	11	5	20	5	2	1	1	1	1	0	1	1	10	1	6	0	7	0	0	0	7	0	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr12:112622897C>T	uc021reb.1	-	60	9867	c.9471G>A	c.(9469-9471)tcG>tcA	p.S3157S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						AGGAGGAGGACGAGTCACTGA	0.592													T	112622897	C	T	112622897	2	4	138	1	0	0	0	0	0	0	0	1	1709	523	19	1		1	C12orf51	12	112622897	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	40648707	112622897	21228998	48	9291											
TUBA3C	7278	broad.mit.edu	37	chr13	19752399	19752399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccagtttgcggatcCggtccaggaccaggtcgacg	7	10	12	12	4	1	0	0	0	1	0	4	3	3	2	4	4	2	1	4	4	1	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:19752399C>T	uc009zzj.3	-	2	467	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	121					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TTTGCGGATCCGGTCCAGGAC	0.522													T	19752399	C	T	19752399	3	4	138	1	0	0	0	0	1	0	0	0	16848	652	23	1	1002	1	TUBA3C	13	19752399	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		19752399	95417479	49	9292											
FLT1	2321	broad.mit.edu	37	chr13	28919630	28919630	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataggagccagaagagagtCgcagccacacaggtgcatgt	14	5	13	9	1	0	2	0	0	0	2	1	4	0	3	2	2	3	2	2	2	3	1	rs142392658		TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr13:28919630C>T	uc001usb.3	-	15	2592	c.2307G>A	c.(2305-2307)gcG>gcA	p.A769A	FLT1_uc001usa.3_5'UTR	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	769					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	p.A769S(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGAAGAGAGTCGCAGCCACAC	0.398													T	28919630	C	T	28919630	2	4	138	1	0	0	0	0	0	0	0	1	5990	871	31	1		1	FLT1	13	28919630	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08	9167231	28919630	86250248	50	9293											
TEP1	7011	broad.mit.edu	37	chr14	20871545	20871545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggactcacctttctctgCtcttctctgagaaaccctat	9	13	6	13	0	4	1	1	1	3	1	6	3	4	2	2	1	2	1	2	1	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20871545C>T	uc001vxe.3	-	6	1297	c.1257G>A	c.(1255-1257)gaG>gaA	p.E419E	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.E311E	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	419	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCTTTCTCTGCTCTTCTCTGA	0.408													T	20871545	C	T	20871545	2	4	138	1	0	0	0	0	0	0	0	1	15859	796	28	2		2	TEP1	14	20871545	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		20871545	86477995	51	9294											
OSGEP	55644	broad.mit.edu	37	chr14	20917163	20917163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtatcctggacttgggtCgttagaaatctagcagaaga	11	12	12	6	1	1	3	0	0	1	3	3	4	2	4	1	2	1	4	1	2	5	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:20917163C>T	uc001vxf.3	-	4	942	c.517G>A	c.(517-519)Gac>Aac	p.D173N		NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	173					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		GGACTTGGGTCGTTAGAAATC	0.448													T	20917163	C	T	20917163	3	4	138	1	0	0	0	0	1	0	0	0	11363	884	31	1	518	1	OSGEP	14	20917163	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	45618	20917163	86432377	52	9295											
PAPOLA	10914	broad.mit.edu	37	chr14	97022277	97022277	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtaaattccagtgaaagCtcagggggtaaggagattgg	14	8	14	5	0	1	2	1	1	0	1	2	3	2	2	1	4	1	3	1	4	5	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:97022277C>G	uc001yfq.3	+	17	1975	c.1758C>G	c.(1756-1758)agC>agG	p.S586R	PAPOLA_uc001yfr.3_Missense_Mutation_p.S585R|PAPOLA_uc010twv.2_Missense_Mutation_p.S586R|PAPOLA_uc010avp.3_Missense_Mutation_p.S336R	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	586	Ser/Thr-rich.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CCAGTGAAAGCTCAGGGGGTA	0.398													G	97022277	C	G	97022277	3	3	138	1	0	0	0	0	1	0	0	0	11505	796	28	4	1828	4	PAPOLA	14	97022277	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	76105114	97022277	10327263	53	9296											
AHNAK2	113146	broad.mit.edu	37	chr14	105417016	105417016	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctatctggggccccttgAggtccactttgggcatcttg	5	13	11	12	0	3	1	0	1	3	0	4	1	4	1	3	4	0	1	3	4	1	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr14:105417016A>T	uc010axc.1	-	6	4892	c.4772T>A	c.(4771-4773)cTc>cAc	p.L1591H	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L1491H	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1591						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCCCTTGAGGTCCACTTT	0.592													T	105417016	A	T	105417016	3	4	138	1	0	0	0	0	1	0	0	0	415	304	11	5	12619	5	AHNAK2	14	105417016	Missense_Mutation	SNP	A	TCGA-14-1450-01B-01D-1845-08	8394739	105417016	1932524	54	9297											
TJP1	7082	broad.mit.edu	37	chr15	30012191	30012192	+	Frame_Shift_Ins	INS	-	-	T																															ggtttgtttcaggcgaaaggINStaagggactggagatgaagc																										TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr15:30012191_30012192insT	uc001zcr.3	-	19	3267_3268	c.2792_2793insA	c.(2791-2793)tacfs	p.Y931fs	TJP1_uc010azl.3_Frame_Shift_Ins_p.Y919fs|TJP1_uc001zcq.3_Intron|TJP1_uc001zcs.3_Intron	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	931					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CAGGCGAAAGGTAAGGGACTGG	0.386													T	30012192	-	T	30012191	7	5	138	1	0	1	1	0	0	0	0	0	16029	1256	44	0	2489	0	TJP1	15	30012191	Frame_Shift_Ins	INS	-	TCGA-14-1450-01B-01D-1845-08		30012191	72519201	55	9298											
NEDD4L	23327	broad.mit.edu	37	chr18	55992284	55992286	+	In_Frame_Del	DEL	TCC	TCC	-																															tctcagcaccaagaggaactTcctcctcctcctctgcctcc																										TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr18:55992284_55992286delTCC	uc002lgy.3	+	8	853_855	c.570_572delTCC	c.(568-573)cttcct>ctt	p.P194del	NEDD4L_uc002lgz.3_In_Frame_Del_p.P194del|NEDD4L_uc002lgx.3_In_Frame_Del_p.P194del|NEDD4L_uc010xee.1_In_Frame_Del_p.P73del|NEDD4L_uc002lhc.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhd.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhb.2_In_Frame_Del_p.P73del|NEDD4L_uc002lhe.2_In_Frame_Del_p.P186del|NEDD4L_uc002lhf.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhg.3_In_Frame_Del_p.P73del|NEDD4L_uc002lhh.2_In_Frame_Del_p.P73del|NEDD4L_uc010dpm.1_In_Frame_Del_p.P45del	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	194	WW 1.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						AAGAGGAACTTCCTCCTCCTCCT	0.498													-	55992286	TCC	-	55992284	7	5	138	1	0	1	0	1	0	0	0	0	10387	1770	62	0	632	0	NEDD4L	18	55992284	In_Frame_Del	DEL	TCC	TCGA-14-1450-01B-01D-1845-08		55992284	22084964	56	9299											
DAPK3	1613	broad.mit.edu	37	chr19	3959627	3959627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaccacgcacgttccgccgCcggatcgcctaggaaggagg	8	5	13	15	6	1	0	1	0	0	0	3	3	2	3	5	4	0	2	5	4	2	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:3959627C>T	uc002lzc.1	-	7	931	c.837G>A	c.(835-837)cgG>cgA	p.R279R	DAPK3_uc002lzb.1_Silent_p.R16R|DAPK3_uc002lzd.1_Silent_p.R279R	NM_001348	NP_001339	O43293	DAPK3_HUMAN	Homo sapiens death-associated protein kinase 3 (DAPK3), mRNA.	279					apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTTCCGCCGCCGGATCGCCT	0.687													T	3959627	C	T	3959627	2	4	138	1	0	0	0	0	0	0	0	1	4271	726	26	2		2	DAPK3	19	3959627	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		3959627	55169356	57	9300											
UBXN6	80700	broad.mit.edu	37	chr19	4454085	4454085	+	Frame_Shift_Del	DEL	T	T	-																															tgggcttctctttgtgggccTtttccctgggaacagaccga																										TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:4454085delT	uc002man.2	-	1	186	c.89delA	c.(88-90)aagfs	p.K30fs	UBXN6_uc002mam.2_5'UTR	NM_025241	NP_079517	Q9BZV1	UBXN6_HUMAN	Homo sapiens UBX domain protein 6 (UBXN6), transcript variant 1, mRNA.	30						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						TTTGTGGGCCTTTTCCCTGGG	0.667													-	4454085	T	-	4454085	7	5	138	1	0	1	0	1	0	0	0	0	17019	1609	56	0	1276	0	UBXN6	19	4454085	Frame_Shift_Del	DEL	T	TCGA-14-1450-01B-01D-1845-08	494458	4454085	54674898	58	9301											
KHSRP	8570	broad.mit.edu	37	chr19	6416419	6416419	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgggcagagaggaccCtagaaggaaggagagtaacc	15	3	14	9	0	0	3	0	0	0	3	0	7	0	5	3	4	2	2	3	4	5	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:6416419C>A	uc002mer.4	-	15	1599	c.1489_splice	c.e15-1	p.G497_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	497					mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						AGAGAGGACCCTAGAAGGAAG	0.637													A	6416419	C	A	6416419	5	1	138	1	0	0	0	0	0	0	1	0	8209	695	24	4	671	4	KHSRP	19	6416419	Splice_Site	SNP	C	TCGA-14-1450-01B-01D-1845-08	1962334	6416419	52712564	59	9302											
TSPAN16	26526	broad.mit.edu	37	chr19	11417292	11417292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctatagctaaagtgctgtGgggtgaataactacacagat	13	11	10	7	0	1	2	0	1	1	1	1	2	1	2	0	2	4	2	0	2	7	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:11417292G>A	uc002mqv.1	+	4	613	c.463G>A	c.(463-465)Ggg>Agg	p.G155R	TSPAN16_uc002mqu.1_Non-coding_Transcript|AF161365_uc002mqw.1_Intron	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	155						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAAGTGCTGTGGGGTGAATAA	0.438													A	11417292	G	A	11417292	3	1	138	1	0	0	0	0	1	0	0	0	16741	1348	47	2	481	2	TSPAN16	19	11417292	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	5000873	11417292	47711691	60	9303											
NOTCH3	4854	broad.mit.edu	37	chr19	15272328	15272328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcagaggccccaggccGtggggaccgggggggctgcg	6	2	21	12	3	0	2	0	0	0	2	0	3	0	3	4	7	2	2	4	7	0	0			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:15272328G>A	uc002nan.3	-	32	6187	c.6111C>T	c.(6109-6111)caC>caT	p.H2037H		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	2037					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCCCCAGGCCGTGGGGACCGG	0.706													A	15272328	G	A	15272328	2	1	138	1	0	0	0	0	0	0	0	1	10626	1136	40	1		1	NOTCH3	19	15272328	Silent	SNP	G	TCGA-14-1450-01B-01D-1845-08	3855036	15272328	43856655	61	9304											
TSKS	60385	broad.mit.edu	37	chr19	50251361	50251361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgagttgaatgcagtacCcctccaactcttctgcctct	7	13	6	15	0	3	2	0	2	3	0	4	2	4	2	5	0	4	3	5	0	3	4			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr19:50251361C>T	uc002ppm.3	-	3	571	c.560G>A	c.(559-561)gGg>gAg	p.G187E		NM_021733	NP_068379	Q9UJT2	TSKS_HUMAN	Homo sapiens testis-specific serine kinase substrate (TSKS), mRNA.	187							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		AATGCAGTACCCCTCCAACTC	0.567													T	50251361	C	T	50251361	3	4	138	1	0	0	0	0	1	0	0	0	16727	623	22	2	1250	2	TSKS	19	50251361	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	34979033	50251361	8877622	62	9305											
ASXL1	171023	broad.mit.edu	37	chr20	31022345	31022345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccggggttggactggCgccaggaccctcgcagacat	6	7	14	14	3	0	1	0	0	0	1	2	3	1	3	4	5	1	2	4	5	0	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:31022345C>T	uc021wbw.1	+	12	2262	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	ASXL1_uc002wxs.3_Silent_p.G609G|ASXL1_uc010geb.3_Silent_p.G501G	NM_015338	NP_056153	Q8IXJ9	ASXL1_HUMAN	Homo sapiens additional sex combs like 1 (Drosophila) (ASXL1), transcript variant 1, mRNA.	610					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.G610G(2)|p.Q592fs*5(1)|p.(574_1542)fs*?(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GTTGGACTGGCGCCAGGACCC	0.632			"F, N, Mis"		"MDS, CMML"								T	31022345	C	T	31022345	2	4	138	1	0	0	0	0	0	0	0	1	1071	755	27	1		1	ASXL1	20	31022345	Silent	SNP	C	TCGA-14-1450-01B-01D-1845-08		31022345	32003175	63	9306											
C20orf152	140894	broad.mit.edu	37	chr20	34560629	34560629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggcctcaggggattcCgggaatatcaaatcattgag	12	8	12	9	1	3	1	3	1	0	0	4	3	4	3	3	4	0	0	3	4	4	3	rs150690141	byFrequency	TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr20:34560629C>T	uc002xer.1	+	1	286	c.130C>T	c.(130-132)Cgg>Tgg	p.R44W	C20orf152_uc002xes.1_Missense_Mutation_p.R44W|C20orf152_uc010gfp.1_Non-coding_Transcript	NM_080834	NP_543024	Q96M20	CT152_HUMAN	Homo sapiens chromosome 20 open reading frame 152 (C20orf152), transcript variant 1, mRNA.	44								p.R44R(2)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)	18	Breast(12;0.00631)					CAGGGGATTCCGGGAATATCA	0.473													T	34560629	C	T	34560629	3	4	138	1	0	0	0	0	1	0	0	0	2113	643	23	1	136	1	C20orf152	20	34560629	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	3538284	34560629	28464891	64	9307											
TIAM1	7074	broad.mit.edu	37	chr21	32638854	32638854	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaatgctgcctcctgccTccctcagccaaatatgtagc	9	10	8	14	0	1	0	1	0	0	0	3	1	3	1	5	1	5	2	5	1	5	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chr21:32638854T>C	uc002yow.1	-	4	907	c.435A>G	c.(433-435)ggA>ggG	p.G145G	TIAM1_uc011adk.1_Silent_p.G145G|TIAM1_uc011adl.1_Silent_p.G145G|TIAM1_uc002yox.1_Intron	NM_003253	NP_003244	Q13009	TIAM1_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 1 (TIAM1), mRNA.	145					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						GCCTCCTGCCTCCCTCAGCCA	0.547													C	32638854	T	C	32638854	2	2	138	1	0	0	0	0	0	0	0	1	15990	1538	54	3		3	TIAM1	21	32638854	Silent	SNP	T	TCGA-14-1450-01B-01D-1845-08		32638854	15491041	65	9308											
MAP3K15	389840	broad.mit.edu	37	chrX	19391804	19391804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggccaggacgacaccgCggggaccttctgtaggggga	8	4	18	11	3	1	0	0	0	1	0	1	4	1	3	3	6	0	2	3	6	1	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:19391804C>T	uc022btq.1	-	20	2783	c.2783G>A	c.(2782-2784)cGc>cAc	p.R928H	MAP3K15_uc004czj.2_Missense_Mutation_p.R363H|MAP3K15_uc004czk.2_Missense_Mutation_p.R403H|MAP3K15_uc004czi.2_5'Flank	NM_001001671	NP_001001671	Q6ZN16	M3K15_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 15 (MAP3K15), mRNA.	928							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GACGACACCGCGGGGACCTTC	0.677													T	19391804	C	T	19391804	3	4	138	1	0	0	0	0	1	0	0	0	9324	768	27	1	1194	1	MAP3K15	23	19391804	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08		19391804	135878756	66	9309											
ZNF41	7592	broad.mit.edu	37	chrX	47307679	47307679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctttccacattctgtaCatatatagggtttctctccg	9	15	6	11	1	2	1	0	0	2	1	5	1	4	1	3	1	1	2	3	1	4	7			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:47307679C>T	uc004dhs.4	-	3	1683	c.1616G>A	c.(1615-1617)tGt>tAt	p.C539Y	ZNF41_uc004dhu.4_Missense_Mutation_p.C531Y|ZNF41_uc004dht.4_Missense_Mutation_p.C411Y|ZNF41_uc004dhv.4_Missense_Mutation_p.C507Y|ZNF41_uc004dhw.4_Missense_Mutation_p.C499Y|ZNF41_uc004dhy.4_Missense_Mutation_p.C497Y|ZNF41_uc004dhx.4_Missense_Mutation_p.C497Y|ZNF41_uc011mlm.2_Missense_Mutation_p.C411Y	NM_153380	NP_700359	P51814	ZNF41_HUMAN	Homo sapiens zinc finger protein 41 (ZNF41), transcript variant 2, mRNA.	539						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATTCTGTACATATATAGGG	0.428													T	47307679	C	T	47307679	3	4	138	1	0	0	0	0	1	0	0	0	17990	478	17	2	853	2	ZNF41	23	47307679	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	27915875	47307679	107962881	67	9310											
GSPT2	23708	broad.mit.edu	37	chrX	51487380	51487380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcaagtcaaccatcGgaggacagataatgtttttg	12	10	11	8	2	1	1	1	0	0	1	2	3	1	3	1	3	1	3	1	3	3	3			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:51487380G>A	uc004dpl.3	+	0	900	c.658G>A	c.(658-660)Gga>Aga	p.G220R		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	220					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GTCAACCATCGGAGGACAGAT	0.398													A	51487380	G	A	51487380	3	1	138	1	0	0	0	0	1	0	0	0	6882	1117	39	1	660	1	GSPT2	23	51487380	Missense_Mutation	SNP	G	TCGA-14-1450-01B-01D-1845-08	4179701	51487380	103783180	68	9311											
ODZ1	10178	broad.mit.edu	37	chrX	123518365	123518365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgtcacatattaccatgCggcccacattatcatattga	12	14	5	10	1	2	1	2	1	0	0	2	1	2	1	2	1	2	0	2	1	5	6			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:123518365C>T	uc010nqy.3	-	29	6480	c.6416G>A	c.(6415-6417)cGc>cAc	p.R2139H	ODZ1_uc011muj.2_Missense_Mutation_p.R2138H|ODZ1_uc004euj.3_Missense_Mutation_p.R2132H	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	2132					immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						TATTACCATGCGGCCCACATT	0.393													T	123518365	C	T	123518365	3	4	138	1	0	0	0	0	1	0	0	0	10910	768	27	1	1794	1	ODZ1	23	123518365	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	72030985	123518365	31752195	69	9312											
ACTRT1	139741	broad.mit.edu	37	chrX	127185914	127185914	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctcccgctcaaagagaTgtttccagagtttctccatg	10	11	8	12	1	2	2	1	0	1	2	5	3	4	2	3	0	1	4	3	0	2	2			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:127185914T>G	uc004eum.3	-	0	469	c.272A>C	c.(271-273)cAt>cCt	p.H91P		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	91						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTCAAAGAGATGTTTCCAGAG	0.493													G	127185914	T	G	127185914	3	3	138	1	0	0	0	0	1	0	0	0	218	1464	51	5	862	5	ACTRT1	23	127185914	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	3667549	127185914	28084646	70	9313											
ARHGEF6	9459	broad.mit.edu	37	chrX	135754253	135754253	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcctcagggagtaggacTtgtggaatggaatcttttcg	8	14	12	7	1	3	0	1	0	2	0	5	4	4	4	1	4	0	1	1	4	3	5			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:135754253T>A	uc004fab.3	-	19	2523	c.2061A>T	c.(2059-2061)caA>caT	p.Q687H	ARHGEF6_uc011mwd.2_Missense_Mutation_p.Q560H|ARHGEF6_uc011mwe.2_Missense_Mutation_p.Q533H	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	687					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GGAGTAGGACTTGTGGAATGG	0.458													A	135754253	T	A	135754253	3	1	138	1	0	0	0	0	1	0	0	0	913	1606	56	5	281	5	ARHGEF6	23	135754253	Missense_Mutation	SNP	T	TCGA-14-1450-01B-01D-1845-08	8568339	135754253	19516307	71	9314											
PNCK	139728	broad.mit.edu	37	chrX	152936012	152936012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggatctgccccagcttcCggatgtggcgcaggaacgag	7	7	15	12	3	1	0	0	0	1	0	2	4	2	3	3	4	3	2	3	4	1	1			TCGA-14-1450-01B-01D-1845-08	TCGA-14-1450-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ec7f174-13f6-44b1-83e3-6f35a244f00e	07ac31bd-1aa0-4e13-8705-16f627eb7c7a	g.chrX:152936012C>T	uc011myu.2	-	10	1367	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	PNCK_uc011myt.2_Missense_Mutation_p.R328Q|PNCK_uc004fhz.4_Missense_Mutation_p.R209Q	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	311						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCAGCTTCCGGATGTGGCG	0.687													T	152936012	C	T	152936012	3	4	138	1	0	0	0	0	1	0	0	0	12222	652	23	1	103	1	PNCK	23	152936012	Missense_Mutation	SNP	C	TCGA-14-1450-01B-01D-1845-08	17181759	152936012	2334548	72	9315											
CATSPER4	378807	broad.mit.edu	37	chr1	26524560	26524560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatggtcctcatcctcttcTtcatgctggtcagtgcctgc	4	15	8	14	0	6	0	4	0	2	0	8	0	8	0	3	2	3	1	3	2	0	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:26524560T>G	uc010oez.2	+	4	670	c.670T>G	c.(670-672)Ttc>Gtc	p.F224V	CATSPER4_uc010oey.1_Missense_Mutation_p.F46V|CATSPER4_uc009vsf.3_Non-coding_Transcript	NM_198137	NP_937770	Q7RTX7	CTSR4_HUMAN	Homo sapiens cation channel, sperm associated 4 (CATSPER4), mRNA.	224					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCTCTTCTTCATGCTGGT	0.597													G	26524560	T	G	26524560	3	3	139	1	0	0	0	0	1	0	0	0	2716	1609	56	5	688	5	CATSPER4	1	26524560	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		26524560	222726061	1	9316											
SDCCAG8	10806	broad.mit.edu	37	chr1	243507526	243507526	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatctaacaggtgtgtggaGaaatgcgctatcagctgaat	13	10	11	7	1	2	2	1	1	1	1	2	3	2	2	0	2	3	2	0	2	5	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507526G>C	uc001hzw.3	+	11	1535	c.1366G>C	c.(1366-1368)Gaa>Caa	p.E456Q	SDCCAG8_uc010pyk.2_Missense_Mutation_p.E311Q|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E268Q|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E268Q|MIR4677_uc021plt.1_5'Flank	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	456	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGTGTGTGGAGAAATGCGCTA	0.423													C	243507526	G	C	243507526	3	2	139	1	0	0	0	0	1	0	0	0	14052	943	33	4	1412	4	SDCCAG8	1	243507526	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	216982966	243507526	5743095	2	9317			1	27		2	2	49	G		4.961637e-05
SDCCAG8	10806	broad.mit.edu	37	chr1	243507574	243507574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatggagaaggatgaggcaGaaaaggagcacagagagttc	17	4	15	5	0	0	4	0	1	0	3	1	8	0	6	0	4	1	3	0	4	3	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr1:243507574G>A	uc001hzw.3	+	11	1583	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	SDCCAG8_uc010pyk.2_Missense_Mutation_p.E327K|SDCCAG8_uc010pyl.2_Missense_Mutation_p.E284K|SDCCAG8_uc001hzx.3_Missense_Mutation_p.E284K|MIR4677_uc021plt.1_5'Flank	NM_006642	NP_006633	Q86SQ7	SDCG8_HUMAN	Homo sapiens serologically defined colon cancer antigen 8 (SDCCAG8), mRNA.	472	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GGATGAGGCAGAAAAGGAGCA	0.393													A	243507574	G	A	243507574	3	1	139	1	0	0	0	0	1	0	0	0	14052	943	33	2	1460	2	SDCCAG8	1	243507574	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	48	243507574	5743047	3	9318			1	27		2	2	49	G		4.961637e-05
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	139	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		209113112	34086261	4	9319											
ALPPL2	251	broad.mit.edu	37	chr2	233274433	233274433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgcacgtcatggccttcGccgcctgcctggagccctac	5	8	11	17	4	1	0	1	0	0	0	2	1	1	1	5	2	4	1	5	2	2	3			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:233274433G>A	uc002vss.4	+	10	1503	c.1450G>A	c.(1450-1452)Gcc>Acc	p.A484T		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	484					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	CATGGCCTTCGCCGCCTGCCT	0.751													A	233274433	G	A	233274433	3	1	139	1	0	0	0	0	1	0	0	0	549	1087	38	1	1492	1	ALPPL2	2	233274433	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	24161321	233274433	9924940	5	9320											
SPP2	6694	broad.mit.edu	37	chr2	234967503	234967503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtcctagatgagaacaaCttggtcatgaatttagagtt	13	12	11	5	0	1	4	1	2	0	3	2	6	2	4	1	2	2	1	1	2	5	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:234967503C>G	uc002vvk.1	+	2	319	c.234C>G	c.(232-234)aaC>aaG	p.N78K	SPP2_uc010fyl.1_5'UTR	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	78					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity	p.N77D(1)		breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ATGAGAACAACTTGGTCATGA	0.423													G	234967503	C	G	234967503	3	3	139	1	0	0	0	0	1	0	0	0	15183	564	20	4	244	4	SPP2	2	234967503	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	1693070	234967503	8231870	6	9321											
PER2	8864	broad.mit.edu	37	chr2	239157759	239157759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccactggtggacctcgcGcagctcctgcttctgactct	5	11	9	16	2	2	1	0	1	2	0	5	2	4	2	3	2	2	3	3	2	0	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr2:239157759G>A	uc002vyc.3	-	21	3799	c.3562C>T	c.(3562-3564)Cgc>Tgc	p.R1188C	PER2_uc010znv.1_Missense_Mutation_p.R1188C	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1188	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TGGACCTCGCGCAGCTCCTGC	0.567													A	239157759	G	A	239157759	3	1	139	1	0	0	0	0	1	0	0	0	11806	1087	38	1	213	1	PER2	2	239157759	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08	4190256	239157759	4041614	7	9322											
PIK3R1	5295	broad.mit.edu	37	chr5	67589147	67589147	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaaagggggaaataacAaattaatcaaaatatttcat	21	9	7	4	0	2	0	2	0	0	0	2	2	2	2	0	3	1	0	0	3	8	4			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:67589147A>G	uc003jva.3	+	9	1715	c.1135A>G	c.(1135-1137)Aaa>Gaa	p.K379E	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79E|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109E|PIK3R1_uc003jve.3_Missense_Mutation_p.K58E|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16E|PIK3R1_uc011crb.2_Missense_Mutation_p.K49E	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGGAAATAACAAATTAATCAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67589147	A	G	67589147	3	3	139	1	0	0	0	0	1	0	0	0	11995	131	5	3	1299	3	PIK3R1	5	67589147	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		67589147	113326113	8	9323											
ARSK	153642	broad.mit.edu	37	chr5	94936730	94936730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgaactaaccactggaaaTatatagcctattcggatggt	13	12	8	8	2	0	0	0	0	0	0	2	3	0	2	2	3	3	0	2	3	7	7			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr5:94936730T>C	uc003kld.3	+	6	1434	c.1276T>C	c.(1276-1278)Tat>Cat	p.Y426H	ARSK_uc010jbg.3_Missense_Mutation_p.Y267H|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	426						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		CCACTGGAAATATATAGCCTA	0.368													C	94936730	T	C	94936730	3	2	139	1	0	0	0	0	1	0	0	0	1001	1406	49	3	1302	3	ARSK	5	94936730	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08	27347583	94936730	85978530	9	9324											
MSH5	4439	broad.mit.edu	37	chr6	31729252	31729252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctgccctctttgcaggtgGatgggctcgcgcttctggcc	2	12	13	14	2	3	0	0	0	3	0	4	1	3	1	2	4	2	3	2	4	0	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:31729252G>A	uc003nwu.2	+	21	2172	c.2044G>A	c.(2044-2046)Gat>Aat	p.D682N	MSH5_uc003nwx.2_Missense_Mutation_p.D699N|MSH5_uc003nwv.2_Missense_Mutation_p.D681N|MSH5_uc003nww.2_Missense_Mutation_p.D681N|MSH5_uc011dof.1_Missense_Mutation_p.D380N|MSH5_uc003nwy.1_Missense_Mutation_p.D355N|SAPCD1_uc003nwz.4_5'UTR	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	681					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						TTTGCAGGTGGATGGGCTCGC	0.577								Direct reversal of damage;Mismatch excision repair (MMR)					A	31729252	G	A	31729252	3	1	139	1	0	0	0	0	1	0	0	0	9949	1174	41	2	2177	2	MSH5	6	31729252	Missense_Mutation	SNP	G	TCGA-14-1456-01B-01D-1494-08		31729252	139385815	10	9325											
CD2AP	23607	broad.mit.edu	37	chr6	47547178	47547178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggtaaagaaggagtatttCcagacaattttgctgtccag	13	12	10	6	0	0	2	0	0	0	2	2	3	2	3	2	2	1	3	2	2	5	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:47547178C>T	uc003oyw.3	+	8	1417	c.961C>T	c.(961-963)Cca>Tca	p.P321S		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	321	SH3 3.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGAGTATTTCCAGACAATTT	0.343													T	47547178	C	T	47547178	3	4	139	1	0	0	0	0	1	0	0	0	3024	855	30	2	995	2	CD2AP	6	47547178	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	15817926	47547178	123567889	11	9326											
EPHA7	2045	broad.mit.edu	37	chr6	94120318	94120318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagtgcatcctgggggCgttttccgcttcttcctctg	3	14	11	13	2	2	0	0	0	2	0	5	0	5	0	3	2	2	4	3	2	0	4	rs41273629	byFrequency	TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr6:94120318C>T	uc003poe.3	-	2	974	c.733G>A	c.(733-735)Gcc>Acc	p.A245T	EPHA7_uc003pof.3_Missense_Mutation_p.A245T|EPHA7_uc011eac.2_Missense_Mutation_p.A245T|EPHA7_uc003pog.4_Missense_Mutation_p.A245T	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	245	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		ATCCTGGGGGCGTTTTCCGCT	0.483													T	94120318	C	T	94120318	3	4	139	1	0	0	0	0	1	0	0	0	5213	768	27	1	2323	1	EPHA7	6	94120318	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	46573140	94120318	76994749	12	9327											
CCDC129	223075	broad.mit.edu	37	chr7	31614260	31614260	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatgcaaatcccagccagaTtccttggttgtggctcagca	9	10	10	12	0	1	1	1	0	0	1	3	1	3	1	3	2	3	5	3	2	1	3			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:31614260T>A	uc011kae.2	+	6	592	c.580T>A	c.(580-582)Ttc>Atc	p.F194I	CCDC129_uc011kad.1_Missense_Mutation_p.F178I|CCDC129_uc003tcj.1_Missense_Mutation_p.F168I|CCDC129_uc003tci.1_Missense_Mutation_p.F167I|CCDC129_uc003tck.1_Missense_Mutation_p.F76I	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	168										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CCCAGCCAGATTCCTTGGTTG	0.478													A	31614260	T	A	31614260	3	1	139	1	0	0	0	0	1	0	0	0	2790	1493	52	5	524	5	CCDC129	7	31614260	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		31614260	127524403	13	9328											
EGFR	1956	broad.mit.edu	37	chr7	55219021	55219021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctgtcccaatgggagCtgctggggtgcaggagagga	9	6	17	9	0	0	1	0	0	0	1	1	4	1	3	2	5	4	4	2	5	2	0			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55219021C>T	uc003tqk.3	+	4	840	c.594C>T	c.(592-594)agC>agT	p.S198S	EGFR_uc003tqh.3_Silent_p.S198S|EGFR_uc003tqi.3_Silent_p.S198S|EGFR_uc003tqj.3_Silent_p.S198S|EGFR_uc022adm.1_Silent_p.S198S|EGFR_uc010kzg.2_Silent_p.S153S|EGFR_uc022adn.1_Silent_p.S153S|EGFR_uc011kco.2_Silent_p.S145S|EGFR_uc003tql.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	198					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCAATGGGAGCTGCTGGGGTG	0.493		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55219021	C	T	55219021	2	4	139	1	0	0	0	0	0	0	0	1	5006	796	28	2		2	EGFR	7	55219021	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	23604761	55219021	103919642	14	9329											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	139	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	2801	55221822	103916841	15	9330											
SULF1	23213	broad.mit.edu	37	chr8	70488235	70488235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcatgaacaaaacgagaaAgattatggaacatggggggg	17	6	14	4	1	1	3	1	1	0	2	1	5	1	4	0	4	3	0	0	4	6	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:70488235A>C	uc003xyg.2	+	4	764	c.203A>C	c.(202-204)aAg>aCg	p.K68T	SULF1_uc010lza.1_Missense_Mutation_p.K68T|SULF1_uc003xyd.2_Missense_Mutation_p.K68T|SULF1_uc003xye.2_Missense_Mutation_p.K68T|SULF1_uc003xyf.2_Missense_Mutation_p.K68T	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	68					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			AAAACGAGAAAGATTATGGAA	0.517													C	70488235	A	C	70488235	3	2	139	1	0	0	0	0	1	0	0	0	15466	72	3	5	209	5	SULF1	8	70488235	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		70488235	75875787	16	9331											
ZNF251	90987	broad.mit.edu	37	chr8	145947815	145947815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaaaccaaaggctctgccGcattcattacatacataggg	14	10	7	10	1	2	0	1	0	1	0	2	0	2	0	2	2	4	2	2	2	6	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr8:145947815G>A	uc003zdv.4	-	4	1486	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C		NM_138367	NP_612376	Q9BRH9	ZN251_HUMAN	Homo sapiens zinc finger protein 251 (ZNF251), mRNA.	410					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		AGGCTCTGCCGCATTCATTAC	0.443													A	145947815	G	A	145947815	2	1	139	1	0	0	0	0	0	0	0	1	17897	1079	38	1		1	ZNF251	8	145947815	Silent	SNP	G	TCGA-14-1456-01B-01D-1494-08	75459580	145947815	416207	17	9332											
GABBR2	9568	broad.mit.edu	37	chr9	101052880	101052880	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacccttacaggcccgagaCcatgactcggaaggagggtg	10	5	13	13	2	0	2	0	1	0	1	1	5	0	4	4	4	1	0	4	4	2	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:101052880C>G	uc004ays.3	-	18	3272	c.2812G>C	c.(2812-2814)Gtc>Ctc	p.V938L		NM_005458	NP_005449	O75899	GABR2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) B receptor, 2 (GABBR2), mRNA.	938					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity	p.V938V(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AGGCCCGAGACCATGACTCGG	0.687													G	101052880	C	G	101052880	3	3	139	1	0	0	0	0	1	0	0	0	6208	507	18	4	17	4	GABBR2	9	101052880	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		101052880	40160551	18	9333											
FUT7	2529	broad.mit.edu	37	chr9	139925805	139925805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctcggaggtggctgaggCcgtgggtgtggctaggagac	5	8	20	8	2	0	2	0	1	0	1	1	4	0	3	2	7	1	2	2	7	1	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr9:139925805C>T	uc004ckq.2	-	1	1235	c.386G>A	c.(385-387)gGc>gAc	p.G129D	ABCA2_uc004ckm.1_5'Flank|C9orf139_uc004ckp.1_Intron	NM_004479	NP_004470	Q11130	FUT7_HUMAN	Homo sapiens fucosyltransferase 7 (alpha (1,3) fucosyltransferase) (FUT7), mRNA.	129					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|lung(4)|ovary(1)|skin(1)	8	all_cancers(76;0.0893)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		GTGGCTGAGGCCGTGGGTGTG	0.711													T	139925805	C	T	139925805	3	4	139	1	0	0	0	0	1	0	0	0	6161	739	26	2	646	2	FUT7	9	139925805	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	38872925	139925805	1287626	19	9334											
OGDHL	55753	broad.mit.edu	37	chr10	50959004	50959004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaaccgcttctctgaggaCcatttccgggccaggaagtc	9	8	10	14	2	1	1	0	1	1	0	4	3	2	3	5	3	1	1	5	3	2	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr10:50959004C>A	uc009xog.3	-	5	892	c.858G>T	c.(856-858)tgG>tgT	p.W286C	OGDHL_uc001jie.3_Missense_Mutation_p.W259C|OGDHL_uc010qgt.2_Missense_Mutation_p.W202C|OGDHL_uc010qgu.2_Missense_Mutation_p.W50C|OGDHL_uc009xoh.2_Missense_Mutation_p.W50C	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	259					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						TCTCTGAGGACCATTTCCGGG	0.562													A	50959004	C	A	50959004	3	1	139	1	0	0	0	0	1	0	0	0	10916	508	18	4	2323	4	OGDHL	10	50959004	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		50959004	84575743	20	9335											
CYSLTR2	57105	broad.mit.edu	37	chr13	49280992	49280992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgcaaccatccatctcCgtatcagaaatggaaccaaa	14	9	5	13	1	2	1	1	0	1	1	5	2	4	2	5	1	3	2	5	1	5	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr13:49280992C>T	uc010acw.1	+	1	329	c.39C>T	c.(37-39)tcC>tcT	p.S13S	CYSLTR2_uc010acx.1_Silent_p.S13S|CYSLTR2_uc010acy.1_Silent_p.S13S|CYSLTR2_uc010acz.1_Silent_p.S13S|CYSLTR2_uc010ada.1_Silent_p.S13S|CYSLTR2_uc010adb.1_Silent_p.S13S|CYSLTR2_uc010adc.1_Silent_p.S13S|CYSLTR2_uc010add.1_Silent_p.S13S|CYSLTR2_uc001vck.2_Silent_p.S13S|CYSLTR2_uc021rjl.1_Silent_p.S13S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	13					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	CATCCATCTCCGTATCAGAAA	0.373													T	49280992	C	T	49280992	2	4	139	1	0	0	0	0	0	0	0	1	4235	639	23	1		1	CYSLTR2	13	49280992	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08		49280992	65888886	21	9336											
SLC27A2	11001	broad.mit.edu	37	chr15	50515253	50515253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtcaagagatttggggAcatatgcatctatgagttct	11	15	10	5	0	3	2	1	1	2	1	3	4	3	3	0	2	1	2	0	2	3	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:50515253A>G	uc001zxw.3	+	4	1296	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	SLC27A2_uc010bes.3_Missense_Mutation_p.D302G|SLC27A2_uc001zxx.3_Missense_Mutation_p.D120G	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	355					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AGATTTGGGGACATATGCATC	0.428													G	50515253	A	G	50515253	3	3	139	1	0	0	0	0	1	0	0	0	14620	275	10	3	1082	3	SLC27A2	15	50515253	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08		50515253	52016139	22	9337											
SEC11A	23478	broad.mit.edu	37	chr15	85234816	85234816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttattaccattaacccCttccagatcattagtgccga	11	12	5	13	1	1	1	1	0	0	1	2	2	2	1	6	0	3	1	6	0	4	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr15:85234816C>T	uc002blb.1	-	1	479	c.111G>A	c.(109-111)aaG>aaA	p.K37K	SEC11A_uc002blc.1_Silent_p.K11K	NM_014300	NP_055115	P67812	SC11A_HUMAN	Homo sapiens SEC11 homolog A (S. cerevisiae) (SEC11A), mRNA.	37					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			CCATTAACCCCTTCCAGATCA	0.408													T	85234816	C	T	85234816	2	4	139	1	0	0	0	0	0	0	0	1	14071	680	24	2		2	SEC11A	15	85234816	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	34719563	85234816	17296576	23	9338											
C16orf54	283897	broad.mit.edu	37	chr16	29755735	29755735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctcccaaactggaCgctggcctctggcctctgct	4	9	13	15	1	2	0	0	0	2	0	3	1	3	1	3	5	2	3	3	5	1	0			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:29755735C>T	uc002dtp.2	-	1	647	c.538G>A	c.(538-540)Gtc>Atc	p.V180I	BOLA2_uc010bzb.1_Intron|BC041466_uc002dtq.1_5'Flank	NM_175900	NP_787096	Q6UWD8	CP054_HUMAN	Homo sapiens chromosome 16 open reading frame 54 (C16orf54), mRNA.	180						integral to membrane				breast(1)|central_nervous_system(1)|lung(2)|prostate(1)|urinary_tract(1)	6						CCAAACTGGACGCTGGCCTCT	0.711													T	29755735	C	T	29755735	3	4	139	1	0	0	0	0	1	0	0	0	1833	536	19	1	140	1	C16orf54	16	29755735	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		29755735	60599018	24	9339											
PKD1L2	114780	broad.mit.edu	37	chr16	81211460	81211460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccagggctgtggaggCgttgcagaagatggcaaagc	9	6	18	8	1	0	2	0	0	0	2	1	3	1	3	1	5	2	4	1	5	2	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr16:81211460C>T	uc002fgh.1	-	13	2389	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T	PKD1L2_uc002fgg.1_Non-coding_Transcript|PKD1L2_uc002fgi.3_Missense_Mutation_p.A112T|PKD1L2_uc002fgj.3_Missense_Mutation_p.A797T|PKD1L2_uc002fgk.1_5'UTR|PKD1L2_uc002fgl.1_Intron	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	797	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GCTGTGGAGGCGTTGCAGAAG	0.592													T	81211460	C	T	81211460	3	4	139	1	0	0	0	0	1	0	0	0	12042	768	27	1	5179	1	PKD1L2	16	81211460	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	51455725	81211460	9143293	25	9340											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:7578190T>C	uc002gim.2	-	5	853	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_uc002gig.1_Missense_Mutation_p.Y220C|TP53_uc002gih.3_Missense_Mutation_p.Y220C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y88C|TP53_uc010cnf.1_Missense_Mutation_p.Y88C|TP53_uc002gii.1_Missense_Mutation_p.Y88C|TP53_uc010cni.1_Missense_Mutation_p.Y220C|TP53_uc010cnh.1_Missense_Mutation_p.Y220C|TP53_uc002gij.2_Missense_Mutation_p.Y220C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y127C|TP53_uc002gio.2_Missense_Mutation_p.Y88C|TP53_uc010vug.2_Missense_Mutation_p.Y181C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	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(516)|p.Y127C(24)|p.Y220S(22)|p.Y220N(12)|p.Y220H(11)|p.?(11)|p.0?(8)|p.P219S(4)|p.P219P(4)|p.Y220fs*27(4)|p.Y220*(3)|p.Y220D(3)|p.P219L(3)|p.Y220_P223delYEPP(2)|p.V218_Y220delVPY(2)|p.V216_Y220delVVVPY(2)|p.P219T(2)|p.Y220fs*25(2)|p.V218_E221delVPYE(2)|p.Y220fs*2(2)|p.V218_E224delVPYEPPE(2)|p.K164_P219del(1)|p.Y220L(1)|p.Y220fs*1(1)|p.Y127S(1)|p.V218_P219insX(1)|p.D208fs*1(1)|p.P219R(1)|p.P219C(1)|p.P219H(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	0.557		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)			C	7578190	T	C	7578190	3	2	139	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-14-1456-01B-01D-1494-08		7578190	73617020	26	9341											
KCTD2	23510	broad.mit.edu	37	chr17	73043590	73043590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgaacgtgggaggcacctActtcgtgaccaccagacaga	11	6	12	12	2	0	4	0	2	0	2	1	5	0	5	3	2	2	2	3	2	2	2			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr17:73043590A>G	uc002jmp.3	+	0	312	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	KCTD2_uc010dfy.1_Intron|KCTD2_uc010dfz.3_Intron|ATP5H_uc002jmn.1_5'Flank|ATP5H_uc002jmo.1_5'Flank|KCTD2_uc002jmq.3_Non-coding_Transcript	NM_015353	NP_056168	Q14681	KCTD2_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 2 (KCTD2), mRNA.	82	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|lung(2)	3	all_lung(278;0.226)					GGAGGCACCTACTTCGTGACC	0.711													G	73043590	A	G	73043590	3	3	139	1	0	0	0	0	1	0	0	0	8165	391	14	3	247	3	KCTD2	17	73043590	Missense_Mutation	SNP	A	TCGA-14-1456-01B-01D-1494-08	65465400	73043590	8151620	27	9342											
CHD6	84181	broad.mit.edu	37	chr20	40049780	40049780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtttcttttggagtcaCagacactaagactgcacata	13	11	8	9	0	2	2	1	0	1	2	2	3	2	3	0	2	1	2	0	2	2	5			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:40049780C>T	uc002xka.1	-	30	5673	c.5495G>A	c.(5494-5496)tGt>tAt	p.C1832Y		NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1832					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGGAGTCACAGACACTAAG	0.388													T	40049780	C	T	40049780	3	4	139	1	0	0	0	0	1	0	0	0	3359	478	17	2	2680	2	CHD6	20	40049780	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		40049780	22975740	28	9343											
PREX1	57580	broad.mit.edu	37	chr20	47267957	47267957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtgaggccgaagcagcCgcggggctccacgatcttct	6	6	16	13	5	2	1	0	1	2	0	3	3	3	1	3	5	2	2	3	5	1	1			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chr20:47267957C>T	uc002xtw.1	-	21	2655	c.2632G>A	c.(2632-2634)Ggc>Agc	p.G878S	PREX1_uc002xtv.1_Missense_Mutation_p.G175S	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	878					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R877R(1)|p.R877L(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCGAAGCAGCCGCGGGGCTCC	0.607													T	47267957	C	T	47267957	3	4	139	1	0	0	0	0	1	0	0	0	12562	652	23	1	2423	1	PREX1	20	47267957	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	7218177	47267957	15757563	29	9344											
FOXR2	139628	broad.mit.edu	37	chrX	55650997	55650997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgcttttgggaggagactCgtgtcttagcctttgctcaa	6	13	12	10	2	2	1	1	0	1	1	3	3	2	2	2	2	2	2	2	2	2	4			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:55650997C>T	uc004duo.3	+	0	1165	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_198451	NP_940853	Q6PJQ5	FOXR2_HUMAN	Homo sapiens forkhead box R2 (FOXR2), mRNA.	285					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGAGGAGACTCGTGTCTTAGC	0.502													T	55650997	C	T	55650997	3	4	139	1	0	0	0	0	1	0	0	0	6083	884	31	1	855	1	FOXR2	23	55650997	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08		55650997	99619563	30	9345											
ATRX	546	broad.mit.edu	37	chrX	76872118	76872118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtactgatagagcttgcaCtgaatagaagtcattctcac	13	12	8	8	0	2	4	2	2	1	2	3	4	2	4	0	0	3	3	0	0	6	6			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:76872118C>G	uc004ecp.4	-	21	5761	c.5529G>C	c.(5527-5529)caG>caC	p.Q1843H	ATRX_uc004ecq.4_Missense_Mutation_p.Q1805H|ATRX_uc004eco.4_Missense_Mutation_p.Q1628H	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1843					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)	AGAGCTTGCACTGAATAGAAG	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76872118	C	G	76872118	3	3	139	1	0	0	0	0	1	0	0	0	1213	564	20	4	2005	4	ATRX	23	76872118	Missense_Mutation	SNP	C	TCGA-14-1456-01B-01D-1494-08	21221121	76872118	78398442	31	9346											
TBX22	50945	broad.mit.edu	37	chrX	79282295	79282295	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagattcagtccttgccCactgaaggtgttaaaacatt	11	12	7	11	0	1	2	1	1	0	1	3	2	3	2	3	1	2	1	3	1	3	4			TCGA-14-1456-01B-01D-1494-08	TCGA-14-1456-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e525e774-f925-41cd-9822-15aeeee29190	e8f3b57f-a7f3-4086-8319-fa7d0761eb85	g.chrX:79282295C>A	uc010nmg.1	+	5	860	c.726C>A	c.(724-726)ccC>ccA	p.P242P	TBX22_uc004edi.1_Silent_p.P122P|TBX22_uc004edj.1_Silent_p.P242P	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	242					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCTTGCCCACTGAAGGTG	0.463													A	79282295	C	A	79282295	2	1	139	1	0	0	0	0	0	0	0	1	15758	581	21	4		4	TBX22	23	79282295	Silent	SNP	C	TCGA-14-1456-01B-01D-1494-08	2410177	79282295	75988265	32	9347											
LOC440563	440563	broad.mit.edu	37	chr1	13183032	13183032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgctgtctctgttatcctCtccttcctcagcatcttttt	3	19	6	13	0	4	0	1	0	3	0	8	0	6	0	3	1	2	3	3	1	1	4	rs55971446	by1000genomes	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:13183032C>T	uc010obg.2	-	1	1084	c.841G>A	c.(841-843)Gag>Aag	p.E281K		NM_001136561	NP_001130033	B2RXH8	B2RXH8_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like (LOC440563), mRNA.	281						ribonucleoprotein complex	nucleic acid binding|nucleotide binding										CTGTTATCCTCTCCTTCCTCA	0.443													T	13183032	C	T	13183032	3	4	140	1	0	0	0	0	1	0	0	0	8946	922	32	2	44	2	LOC440563	1	13183032	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08		13183032	236067589	1	9348											
PADI6	353238	broad.mit.edu	37	chr1	17721458	17721458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttctagcgcagagggccGggccatgagtaagaccctcc	8	7	12	14	2	1	3	0	1	1	2	3	3	3	3	5	2	1	2	5	2	2	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:17721458G>A	uc001bak.1	+	12	1349	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	442					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GCAGAGGGCCGGGCCATGAGT	0.602													A	17721458	G	A	17721458	3	1	140	1	0	0	0	0	1	0	0	0	11457	1116	39	1	1396	1	PADI6	1	17721458	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	4538426	17721458	231529163	2	9349											
KIAA0090	23065	broad.mit.edu	37	chr1	19546124	19546124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcattcgagaaactgtcTggttatagttgatgaatcgc	10	13	10	8	3	1	3	0	2	1	1	4	4	1	3	0	1	1	3	0	1	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:19546124T>C	uc001bbo.3	-	21	2784	c.2741A>G	c.(2740-2742)cAg>cGg	p.Q914R	KIAA0090_uc001bbn.3_Non-coding_Transcript|KIAA0090_uc001bbp.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbq.3_Missense_Mutation_p.Q913R|KIAA0090_uc001bbr.3_Missense_Mutation_p.Q892R	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	914	DUF1620.					integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		AGAAACTGTCTGGTTATAGTT	0.507													C	19546124	T	C	19546124	3	2	140	1	0	0	0	0	1	0	0	0	8211	1580	55	3	248	3	KIAA0090	1	19546124	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	1824666	19546124	229704497	3	9350											
KIF17	57576	broad.mit.edu	37	chr1	20992723	20992723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaggctcttcctggcGtctgtgctgaggatctggct	4	13	13	11	1	4	2	1	2	3	0	5	3	5	3	1	4	1	3	1	4	0	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:20992723G>A	uc001bdr.4	-	13	3013	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_uc001bdp.4_Silent_p.D242D|KIF17_uc009vpx.3_Silent_p.D335D|KIF17_uc001bds.4_Silent_p.D964D	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													A	20992723	G	A	20992723	2	1	140	1	0	0	0	0	0	0	0	1	8337	1136	40	1		1	KIF17	1	20992723	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	1446599	20992723	228257898	4	9351											
NR0B2	8431	broad.mit.edu	37	chr1	27240176	27240176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaccctgcagcagccGccgctggtcctggggaggca	7	4	14	16	2	0	0	0	0	0	0	1	1	1	1	5	4	5	5	5	4	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:27240176G>A	uc001bnf.3	-	0	392	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	BC016143_uc021ojq.1_Intron	NM_021969	NP_068804	Q15466	NR0B2_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 2 (NR0B2), mRNA.	86	Ligand-binding (By similarity).				cholesterol metabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	DNA binding|protein domain specific binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity			NS(1)|large_intestine(1)|lung(3)	5		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.01e-51)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		TGCAGCAGCCGCCGCTGGTCC	0.642													A	27240176	G	A	27240176	3	1	140	1	0	0	0	0	1	0	0	0	10690	1086	38	1	525	1	NR0B2	1	27240176	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	6247453	27240176	222010445	5	9352											
TNR	7143	broad.mit.edu	37	chr1	175372637	175372637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccggctggagcaacccagCgggcagtagggctccgagca	8	3	15	15	3	0	0	0	0	0	0	1	2	1	1	4	4	4	6	4	4	2	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:175372637C>T	uc001gkp.1	-	1	696	c.615G>A	c.(613-615)ccG>ccA	p.P205P	TNR_uc009wwu.1_Silent_p.P205P|TNR_uc010pmz.1_Silent_p.P205P	NM_003285	NP_003276	Q92752	TENR_HUMAN	Homo sapiens tenascin R (restrictin, janusin) (TNR), mRNA.	205	Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGCAACCCAGCGGGCAGTAGG	0.597													T	175372637	C	T	175372637	2	4	140	1	0	0	0	0	0	0	0	1	16438	755	27	1		1	TNR	1	175372637	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	148132461	175372637	73877984	6	9353											
CFH	10877	broad.mit.edu	37	chr1	196871608	196871608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatattataagagtttgcGtagactatactttccagcag	12	15	7	7	1	1	2	0	0	1	2	2	2	2	2	1	0	3	3	1	0	7	9			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr1:196871608G>A	uc001gtp.3	+	1	256	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CFH_uc021pgt.1_Intron|CFH_uc009wyy.3_Missense_Mutation_p.R39H|CFH_uc001gto.3_Missense_Mutation_p.R40H	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	341	Sushi 1.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAGAGTTTGCGTAGACTATAC	0.323													A	196871608	G	A	196871608	3	1	140	1	0	0	0	0	1	0	0	0	3313	1145	40	1		1	CFH	1	196871608	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	21498971	196871608	52379013	7	9354											
RGPD3	653489	broad.mit.edu	37	chr2	107049596	107049596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggtgatagtgaatatttgGtaggagatggtgtagaatgt	11	15	15	0	0	0	4	0	2	0	2	0	5	0	4	0	4	0	2	0	4	6	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:107049596G>C	uc010ywi.1	-	15	2408	c.2351C>G	c.(2350-2352)aCc>aGc	p.T784S		NM_001144013	NP_001137485	A6NKT7	RGPD3_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 3 (RGPD3), mRNA.	784					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TGAATATTTGGTAGGAGATGG	0.338													C	107049596	G	C	107049596	3	2	140	1	0	0	0	0	1	0	0	0	13375	1261	44	4	2957	4	RGPD3	2	107049596	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		107049596	136149777	8	9355											
CNTNAP5	129684	broad.mit.edu	37	chr2	125405459	125405459	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatggaacagctggaggcCgtgatcgacggctctgagca	10	6	15	10	3	1	2	0	2	1	0	2	5	1	4	1	4	4	4	1	4	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:125405459C>T	uc010flu.3	+	12	2365	c.2001C>T	c.(1999-2001)gcC>gcT	p.A667A	CNTNAP5_uc002tno.3_Silent_p.A666A	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	666	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		AGCTGGAGGCCGTGATCGACG	0.622													T	125405459	C	T	125405459	2	4	140	1	0	0	0	0	0	0	0	1	3681	639	23	1		1	CNTNAP5	2	125405459	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	18355863	125405459	117793914	9	9356											
THSD7B	80731	broad.mit.edu	37	chr2	138033556	138033556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctggcagggaataacGggcagcagtgaagcctgtgg	9	8	16	8	1	2	1	0	1	2	0	2	2	2	2	1	4	3	3	1	4	3	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:138033556G>A	uc002tva.1	+	10	2367	c.2367G>A	c.(2365-2367)acG>acA	p.T789T	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Silent_p.T679T	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGGGAATAACGGGCAGCAGTG	0.398													A	138033556	G	A	138033556	2	1	140	1	0	0	0	0	0	0	0	1	15980	1103	39	1		1	THSD7B	2	138033556	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	12628097	138033556	105165817	10	9357											
NEB	4703	broad.mit.edu	37	chr2	152425820	152425820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtttggcatgattgaCggacacggagtcatttggca	9	11	14	7	2	1	2	1	2	0	0	1	4	1	4	0	5	0	4	0	5	0	3	rs149881695	by1000genomes	TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:152425820C>T	uc021vrb.1	-	80	12423	c.12394G>A	c.(12394-12396)Gtc>Atc	p.V4132I	NEB_uc002txr.3_Missense_Mutation_p.V598I|NEB_uc002txu.3_Missense_Mutation_p.V5833I|NEB_uc021vrc.1_Missense_Mutation_p.V5833I|NEB_uc010fnx.3_Missense_Mutation_p.V4120I|NEB_uc021vrd.1_Missense_Mutation_p.V4132I	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	4132					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GCATGATTGACGGACACGGAG	0.458													T	152425820	C	T	152425820	3	4	140	1	0	0	0	0	1	0	0	0	10378	536	19	1	8481	1	NEB	2	152425820	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	14392264	152425820	90773553	11	9358											
COBLL1	22837	broad.mit.edu	37	chr2	165551266	165551266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcagctgcagatgtcacaTagtgacccgatactctcttc	9	11	9	12	1	2	2	1	1	1	1	4	3	2	2	1	1	3	3	1	1	2	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:165551266T>C	uc002ucp.3	-	11	2972	c.2750A>G	c.(2749-2751)tAt>tGt	p.Y917C	COBLL1_uc002ucq.3_Missense_Mutation_p.Y879C|COBLL1_uc010zcw.2_Missense_Mutation_p.Y984C|COBLL1_uc010zcx.2_Missense_Mutation_p.Y925C|COBLL1_uc002ucn.3_Missense_Mutation_p.Y345C|COBLL1_uc002uco.3_Missense_Mutation_p.Y648C	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	955										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						AGATGTCACATAGTGACCCGA	0.448													C	165551266	T	C	165551266	3	2	140	1	0	0	0	0	1	0	0	0	3685	1406	49	3	762	3	COBLL1	2	165551266	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	13125446	165551266	77648107	12	9359											
TTN	7273	broad.mit.edu	37	chr2	179454479	179454479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttaatagccagaatgggaGtttttgtttcgatggttggc	8	15	14	4	1	0	1	0	0	0	1	1	3	0	2	1	4	1	4	1	4	3	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179454479G>A	uc021vsy.1	-	252	54494	c.54269C>T	c.(54268-54270)aCt>aTt	p.T18090I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T11785I|TTN_uc021vta.1_Missense_Mutation_p.T11718I|TTN_uc021vtb.1_Missense_Mutation_p.T11593I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19017	Fibronectin type-III 31.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATGGGAGTTTTTGTTTC	0.413													A	179454479	G	A	179454479	3	1	140	1	0	0	0	0	1	0	0	0	16837	1029	36	2	46242	2	TTN	2	179454479	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	13903213	179454479	63744894	13	9360											
CCDC141	285025	broad.mit.edu	37	chr2	179730518	179730518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatctcgtctctcatggcGcagtactccacactacggga	8	12	8	13	3	3	0	1	0	2	0	6	1	4	1	1	2	2	2	1	2	3	4	rs144206841		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:179730518G>A	uc002une.2	-	16	2818	c.2700C>T	c.(2698-2700)tgC>tgT	p.C900C	CCDC141_uc002unf.1_Silent_p.C379C	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	325							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTCTCATGGCGCAGTACTCCA	0.532													A	179730518	G	A	179730518	2	1	140	1	0	0	0	0	0	0	0	1	2801	1079	38	1		1	CCDC141	2	179730518	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08	276039	179730518	63468855	14	9361											
NEU2	4759	broad.mit.edu	37	chr2	233899574	233899574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcaacccgcgacctccagCccctgaggcctggtcagagc	7	5	10	19	2	2	2	2	1	0	1	3	3	3	2	7	2	3	0	7	2	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:233899574C>T	uc010zmn.2	+	1	950	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_005383	NP_005374	Q9Y3R4	NEUR2_HUMAN	Homo sapiens sialidase 2 (cytosolic sialidase) (NEU2), mRNA.	317							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CGACCTCCAGCCCCTGAGGCC	0.672													T	233899574	C	T	233899574	3	4	140	1	0	0	0	0	1	0	0	0	10418	739	26	2	956	2	NEU2	2	233899574	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	54169056	233899574	9299799	15	9362											
ANO7	50636	broad.mit.edu	37	chr2	242149970	242149970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgtatccctggcccacGtcctgacacgatggggtgag	7	10	12	12	2	1	2	0	2	1	0	3	3	3	2	3	3	0	1	3	3	2	2	rs148576854		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr2:242149970G>A	uc002wax.2	+	14	1811	c.1708G>A	c.(1708-1710)Gtc>Atc	p.V570I		NM_001001891	NP_001001891	Q6IWH7	ANO7_HUMAN	Homo sapiens anoctamin 7 (ANO7), transcript variant NGEP-L, mRNA.	570						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						CCTGGCCCACGTCCTGACACG	0.622													A	242149970	G	A	242149970	3	1	140	1	0	0	0	0	1	0	0	0	702	1145	40	1	1838	1	ANO7	2	242149970	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	8250396	242149970	1049403	16	9363											
OGG1	4968	broad.mit.edu	37	chr3	9798237	9798237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtggcacattgcccaacGtgactacagctggcacccta	10	9	9	13	1	0	1	0	1	0	0	0	1	0	1	2	2	4	3	2	2	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:9798237G>A	uc003bsi.3	+	4	1173	c.830G>A	c.(829-831)cGt>cAt	p.R277H	OGG1_uc003bsj.3_Missense_Mutation_p.R277H|OGG1_uc003bsh.3_Missense_Mutation_p.R277H|OGG1_uc003bsl.3_Missense_Mutation_p.R277H|OGG1_uc003bsk.3_Missense_Mutation_p.R277H|OGG1_uc003bsm.3_Missense_Mutation_p.R277H|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|OGG1_uc003bsr.2_Missense_Mutation_p.R42H|OGG1_uc010hcm.2_Intron|OGG1_uc003bsq.2_Intron|OGG1_uc003bsp.2_Missense_Mutation_p.R42H	NM_002542	NP_002533	O15527	OGG1_HUMAN	Homo sapiens 8-oxoguanine DNA glycosylase (OGG1), nuclear gene encoding mitochondrial protein, transcript variant 1a, mRNA.	277					depurination|nucleotide-excision repair|regulation of protein import into nucleus, translocation|regulation of transcription, DNA-dependent|response to oxidative stress|response to radiation	mitochondrion|nuclear matrix|nuclear speck	damaged DNA binding|endonuclease activity|oxidized purine base lesion DNA N-glycosylase activity|protein binding			kidney(2)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	8	Medulloblastoma(99;0.227)					ATTGCCCAACGTGACTACAGC	0.602								Base excision repair (BER), DNA glycosylases					A	9798237	G	A	9798237	3	1	140	1	0	0	0	0	1	0	0	0	10921	1145	40	1	848	1	OGG1	3	9798237	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		9798237	188224193	17	9364											
NKIRAS1	28512	broad.mit.edu	37	chr3	23942514	23942514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaagccatgtatacatCttccattgtttcgcaatctt	10	16	5	10	1	2	1	0	1	2	0	4	1	3	1	2	0	3	3	2	0	5	7			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:23942514C>A	uc003ccj.3	-	3	523	c.121G>T	c.(121-123)Gat>Tat	p.D41Y	NKIRAS1_uc003cck.3_Missense_Mutation_p.D41Y	NM_020345	NP_065078	Q9NYS0	KBRS1_HUMAN	Homo sapiens NFKB inhibitor interacting Ras-like 1 (NKIRAS1), mRNA.	41					I-kappaB kinase/NF-kappaB cascade|small GTPase mediated signal transduction	cytoplasm	GTP binding|GTPase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	7						ATGTATACATCTTCCATTGTT	0.413													A	23942514	C	A	23942514	3	1	140	1	0	0	0	0	1	0	0	0	10520	913	32	4	465	4	NKIRAS1	3	23942514	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	14144277	23942514	174079916	18	9365											
ACTR8	93973	broad.mit.edu	37	chr3	53909976	53909976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccttccaagttccttaccGagtattccgatgagacaccc	10	10	6	15	2	0	1	0	1	0	1	3	4	3	1	6	0	1	2	6	0	3	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:53909976G>A	uc003dhd.3	-	7	1012	c.911_splice	c.e7+1	p.R304_splice	ACTR8_uc003dhb.3_Splice_Site_p.R54_splice|ACTR8_uc003dhc.3_Splice_Site_p.R193_splice	NM_022899	NP_075050	Q9H981	ARP8_HUMAN	Homo sapiens ARP8 actin-related protein 8 homolog (yeast) (ACTR8), mRNA.	304					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		GTTCCTTACCGAGTATTCCGA	0.433													A	53909976	G	A	53909976	3	1	140	1	0	0	0	0	1	0	0	0	217	1072	37	1	992	1	ACTR8	3	53909976	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	29967462	53909976	144112454	19	9366											
EPHA6	285220	broad.mit.edu	37	chr3	97167503	97167503	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaccaaatatgtatttcAcatccgagtgagaactgcga	14	9	8	10	2	1	1	1	1	0	1	2	4	2	1	3	0	3	1	3	0	4	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:97167503A>T	uc010how.1	+	6	1866	c.1823A>T	c.(1822-1824)cAc>cTc	p.H608L	EPHA6_uc011bgo.1_Non-coding_Transcript|EPHA6_uc011bgp.1_5'UTR|EPHA6_uc003drs.4_5'UTR|EPHA6_uc003drr.4_5'UTR|EPHA6_uc003drt.3_5'UTR|EPHA6_uc010hox.1_Non-coding_Transcript	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	513						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGTATTTCACATCCGAGTG	0.448													T	97167503	A	T	97167503	3	4	140	1	0	0	0	0	1	0	0	0	5212	159	6	5	1849	5	EPHA6	3	97167503	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	43257527	97167503	100854927	20	9367											
MORC1	27136	broad.mit.edu	37	chr3	108698509	108698509	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttccatcggcacattgAgcaagctgaggtttgtcatt	9	13	9	10	1	2	2	1	2	1	0	4	2	3	2	1	2	2	4	1	2	1	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr3:108698509A>T	uc003dxl.3	-	23	2417	c.2330T>A	c.(2329-2331)cTc>cAc	p.L777H	MORC1_uc011bhn.2_Missense_Mutation_p.L756H	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	777					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CGGCACATTGAGCAAGCTGAG	0.368													T	108698509	A	T	108698509	3	4	140	1	0	0	0	0	1	0	0	0	9777	304	11	5	644	5	MORC1	3	108698509	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	11531006	108698509	89323921	21	9368											
UGT2A3	79799	broad.mit.edu	37	chr4	69796959	69796959	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctttgtacctccataacAcctacggaagaaacacatgt	13	11	5	12	1	0	1	0	0	0	1	2	2	2	2	4	1	4	1	4	1	5	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:69796959A>C	uc003hef.2	-	4	1028	c.997_splice	c.e4-1	p.V333_splice	UGT2A3_uc010ihp.1_Splice_Site	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	333						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCTCCATAACACCTACGGAAG	0.373													C	69796959	A	C	69796959	3	2	140	1	0	0	0	0	1	0	0	0	17057	173	6	5	597	5	UGT2A3	4	69796959	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		69796959	121357317	22	9369											
DDX60	55601	broad.mit.edu	37	chr4	169196591	169196591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtattgcagttggaaccGagctggcccaatgccaactg	10	9	11	11	1	0	0	0	0	0	0	0	2	0	1	3	2	5	4	3	2	4	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr4:169196591G>A	uc003irp.3	-	15	2501	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W		NM_017631	NP_060101	Q8IY21	DDX60_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60 (DDX60), mRNA.	737							ATP binding|ATP-dependent helicase activity|RNA binding	p.R737W(3)|p.R737Q(1)		breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		AGTTGGAACCGAGCTGGCCCA	0.393													A	169196591	G	A	169196591	3	1	140	1	0	0	0	0	1	0	0	0	4412	1057	37	1	3021	1	DDX60	4	169196591	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	99399632	169196591	21957685	23	9370											
KCNQ5	56479	broad.mit.edu	37	chr6	73713705	73713705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacacaaaattggcctcaaGttgcctcttgatcctggtaa	11	11	8	11	0	2	1	1	1	1	0	3	1	3	1	3	2	1	3	3	2	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:73713705G>T	uc011dyh.2	+	1	820	c.473G>T	c.(472-474)aGt>aTt	p.S158I	KCNQ5_uc003pgj.4_Missense_Mutation_p.S158I|KCNQ5_uc011dyi.2_Missense_Mutation_p.S158I|KCNQ5_uc010kat.3_Missense_Mutation_p.S158I|KCNQ5_uc003pgk.3_Missense_Mutation_p.S158I|KCNQ5_uc011dyj.2_Missense_Mutation_p.S158I|KCNQ5_uc011dyk.2_5'UTR	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	158					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TTGGCCTCAAGTTGCCTCTTG	0.358													T	73713705	G	T	73713705	3	4	140	1	0	0	0	0	1	0	0	0	8144	1029	36	4	479	4	KCNQ5	6	73713705	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		73713705	97401362	24	9371											
COL12A1	1303	broad.mit.edu	37	chr6	75858174	75858174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctaaaagaacgatgggttCgctcagaaataactaagtta	16	10	8	7	2	2	2	1	0	1	2	3	3	2	2	0	1	2	3	0	1	7	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:75858174C>T	uc021zbv.1	-	20	4222	c.4187G>A	c.(4186-4188)cGa>cAa	p.R1396Q	COL12A1_uc021zbw.1_Missense_Mutation_p.R232Q|COL12A1_uc003phs.3_Missense_Mutation_p.R1396Q|COL12A1_uc003pht.3_Missense_Mutation_p.R232Q	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	1396	Fibronectin type-III 9.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACGATGGGTTCGCTCAGAAAT	0.398													T	75858174	C	T	75858174	3	4	140	1	0	0	0	0	1	0	0	0	3700	884	31	1	5184	1	COL12A1	6	75858174	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	2144469	75858174	95256893	25	9372											
BVES	11149	broad.mit.edu	37	chr6	105573416	105573416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggagtggttcaaacaatCgccggtacatgccactgagt	11	8	11	11	3	1	1	1	1	0	0	2	2	1	2	2	3	3	2	2	3	3	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:105573416C>T	uc003pqw.3	-	3	546	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	BVES_uc003pqx.3_Missense_Mutation_p.R130Q|BVES_uc003pqy.3_Missense_Mutation_p.R130Q	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	130					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TTCAAACAATCGCCGGTACAT	0.443													T	105573416	C	T	105573416	3	4	140	1	0	0	0	0	1	0	0	0	1585	884	31	1	713	1	BVES	6	105573416	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	29715242	105573416	65541651	26	9373											
T	6862	broad.mit.edu	37	chr6	166571970	166571970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggggtgtgtagtgcgCgggggagccccggaagaact	7	6	21	7	3	0	2	0	1	0	1	0	4	0	4	2	6	3	1	2	6	3	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr6:166571970C>T	uc003qut.1	-	7	1430	c.1144G>A	c.(1144-1146)Gcg>Acg	p.A382T	T_uc003quu.1_Missense_Mutation_p.A381T|T_uc003quv.1_Missense_Mutation_p.A323T	NM_003181	NP_003172	O15178	BRAC_HUMAN	Homo sapiens T, brachyury homolog (mouse) (T), mRNA.	381					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity	p.A381T(2)|p.A381E(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		GTGTAGTGCGCGGGGGAGCCC	0.711									Chordoma, Familial Clustering of				T	166571970	C	T	166571970	3	4	140	1	0	0	0	0	1	0	0	0	15585	768	27	1	170	1	T	6	166571970	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	60998554	166571970	4543097	27	9374											
FERD3L	222894	broad.mit.edu	37	chr7	19184907	19184907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgcagaggagagggcGtctcggggaggccagggaca	10	3	20	8	3	1	2	0	0	1	2	3	6	1	4	1	6	0	1	1	6	1	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:19184907G>A	uc003suo.1	-	0	138	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	BC043576_uc003sun.1_Non-coding_Transcript	NM_152898	NP_690862	Q96RJ6	FER3L_HUMAN	Homo sapiens Fer3-like (Drosophila) (FERD3L), mRNA.	27					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(4)|large_intestine(8)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	35						AGGAGAGGGCGTCTCGGGGAG	0.677													A	19184907	G	A	19184907	3	1	140	1	0	0	0	0	1	0	0	0	5865	1145	40	1	425	1	FERD3L	7	19184907	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		19184907	139953756	28	9375											
UPP1	7378	broad.mit.edu	37	chr7	48139333	48139333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatattctctatcatttCaatctcaccactagcagaca	14	12	4	11	0	4	2	3	0	2	2	6	3	4	2	1	0	1	1	1	0	5	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48139333C>A	uc003toj.3	+	4	640	c.111C>A	c.(109-111)ttC>ttA	p.F37L	UPP1_uc003tok.3_Missense_Mutation_p.F37L|UPP1_uc003tol.3_Missense_Mutation_p.F37L|UPP1_uc011kcg.1_Missense_Mutation_p.F37L|UPP1_uc011kch.2_Intron|UPP1_uc003ton.3_Intron	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	37					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TCTATCATTTCAATCTCACCA	0.393													A	48139333	C	A	48139333	3	1	140	1	0	0	0	0	1	0	0	0	17114	825	29	4	117	4	UPP1	7	48139333	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	28954426	48139333	110999330	29	9376											
UPP1	7378	broad.mit.edu	37	chr7	48146585	48146585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaaacggaccttaacaaGaagctggtgcaggagctgtt	13	7	13	8	2	0	1	0	0	0	1	0	4	0	4	1	4	5	4	1	4	5	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:48146585G>T	uc003toj.3	+	7	1081	c.552G>T	c.(550-552)aaG>aaT	p.K184N	UPP1_uc003tok.3_Missense_Mutation_p.K184N|UPP1_uc003tol.3_Missense_Mutation_p.K184N|UPP1_uc011kch.2_5'UTR|UPP1_uc003ton.3_Missense_Mutation_p.K47N	NM_181597	NP_853628	Q16831	UPP1_HUMAN	Homo sapiens uridine phosphorylase 1 (UPP1), transcript variant 2, mRNA.	184					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						ACCTTAACAAGAAGCTGGTGC	0.537													T	48146585	G	T	48146585	3	4	140	1	0	0	0	0	1	0	0	0	17114	933	33	4	570	4	UPP1	7	48146585	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	7252	48146585	110992078	30	9377											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	140	1	0	0	0	0	1	0	0	0	5006	1319	46	2	891	2	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	7075236	55221821	103916842	31	9378											
FZD1	8321	broad.mit.edu	37	chr7	90894669	90894669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttctaccctctagtgaaAgtgcagtgttccgctgagct	8	12	10	11	1	2	2	0	2	2	0	3	2	3	2	2	0	3	5	2	0	3	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:90894669A>T	uc003ula.3	+	0	887	c.474A>T	c.(472-474)aaA>aaT	p.K158N		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	158	FZ.				autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTCTAGTGAAAGTGCAGTGTT	0.632													T	90894669	A	T	90894669	3	4	140	1	0	0	0	0	1	0	0	0	6180	69	3	5	476	5	FZD1	7	90894669	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	35672848	90894669	68243994	32	9379											
MUC17	140453	broad.mit.edu	37	chr7	100685376	100685376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccagttcatctccagcaaCtcttcaggtcaccactatgc	10	10	6	15	0	5	0	3	0	2	0	6	0	5	0	3	1	4	2	3	1	2	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:100685376C>G	uc003uxp.1	+	2	10732	c.10679C>G	c.(10678-10680)aCt>aGt	p.T3560S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3560	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)					TCTCCAGCAACTCTTCAGGTC	0.478													G	100685376	C	G	100685376	3	3	140	1	0	0	0	0	1	0	0	0	10050	565	20	4	10689	4	MUC17	7	100685376	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	9790707	100685376	58453287	33	9380											
DGKI	9162	broad.mit.edu	37	chr7	137263039	137263039	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatagaacattttatttcGaaaacgactgttgaatttct	13	16	6	6	2	1	2	0	1	1	1	2	4	1	2	0	0	3	2	0	0	6	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr7:137263039G>A	uc003vtt.3	-	15	1676	c.1675C>T	c.(1675-1677)Cga>Tga	p.R559*	DGKI_uc003vtu.3_Nonsense_Mutation_p.R259*	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	559					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R559*(3)		breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						ATTTTATTTCGAAAACGACTG	0.338													A	137263039	G	A	137263039	4	1	140	1	0	0	0	0	0	1	0	0	4510	1066	37	1	1598	1	DGKI	7	137263039	Nonsense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	36577663	137263039	21875624	34	9381											
PSD3	23362	broad.mit.edu	37	chr8	18432725	18432725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccgtggccttggatgccAatgcgtggtgcacactcaca	8	9	12	12	2	1	0	1	0	0	0	2	1	2	1	3	3	3	1	3	3	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:18432725A>G	uc003wza.3	-	12	2655	c.2552T>C	c.(2551-2553)tTg>tCg	p.L851S	PSD3_uc003wyx.4_Missense_Mutation_p.L180S|PSD3_uc003wyy.3_Missense_Mutation_p.L317S|PSD3_uc003wyz.3_Missense_Mutation_p.L152S	NM_015310	NP_056125	Q9NYI0	PSD3_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 3 (PSD3), transcript variant 1, mRNA.	852	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CTTGGATGCCAATGCGTGGTG	0.428													G	18432725	A	G	18432725	3	3	140	1	0	0	0	0	1	0	0	0	12733	131	5	3	607	3	PSD3	8	18432725	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		18432725	127931297	35	9382											
LGI3	203190	broad.mit.edu	37	chr8	22006477	22006477	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaccatcggcttgcagtgCactgcagagggggctgtgcc	7	7	14	13	1	0	1	0	0	0	1	1	1	0	1	3	3	4	5	3	3	0	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:22006477C>A	uc003xav.3	-	7	1132	c.843G>T	c.(841-843)gtG>gtT	p.V281V	LGI3_uc010ltu.3_Silent_p.V257V	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	281					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GCTTGCAGTGCACTGCAGAGG	0.627													A	22006477	C	A	22006477	2	1	140	1	0	0	0	0	0	0	0	1	8813	697	25	4		4	LGI3	8	22006477	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	3573752	22006477	124357545	36	9383											
SNAI2	6591	broad.mit.edu	37	chr8	49831516	49831516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgtctgcaaatgctctGttgcagtgagggcaagaaaa	12	9	12	8	0	2	2	0	1	2	1	2	3	2	2	1	1	3	5	1	1	4	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:49831516G>T	uc003xqp.3	-	2	832	c.657C>A	c.(655-657)aaC>aaA	p.N219K		NM_003068	NP_003059	O43623	SNAI2_HUMAN	Homo sapiens snail homolog 2 (Drosophila) (SNAI2), mRNA.	219					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				CAAATGCTCTGTTGCAGTGAG	0.433													T	49831516	G	T	49831516	3	4	140	1	0	0	0	0	1	0	0	0	14921	1368	48	4	153	4	SNAI2	8	49831516	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27825039	49831516	96532506	37	9384											
ZFHX4	79776	broad.mit.edu	37	chr8	77763369	77763369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtaaccattgtagcttGgctttcaaaactatgcagaa	12	12	8	9	1	1	1	1	0	0	1	1	1	1	1	1	1	4	6	1	1	6	6			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:77763369G>C	uc003yau.2	+	9	4599	c.4212G>C	c.(4210-4212)ttG>ttC	p.L1404F	ZFHX4_uc003yaw.1_Missense_Mutation_p.L1359F	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	1359						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTGTAGCTTGGCTTTCAAAA	0.453										HNSCC(33;0.089)			C	77763369	G	C	77763369	3	2	140	1	0	0	0	0	1	0	0	0	17736	1339	47	4	4246	4	ZFHX4	8	77763369	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27931853	77763369	68600653	38	9385											
LRP12	29967	broad.mit.edu	37	chr8	105503293	105503293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgagtcatacgactgaGtgcacttgtaagctggtgac	9	10	11	11	1	1	3	1	3	0	0	1	4	1	3	2	1	3	3	2	1	2	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr8:105503293G>C	uc003yma.3	-	6	2315	c.2188C>G	c.(2188-2190)Ctc>Gtc	p.L730V	LRP12_uc003ymb.3_Missense_Mutation_p.L711V|LRP12_uc003ylz.3_Missense_Mutation_p.L136V	NM_013437	NP_038465	Q9Y561	LRP12_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 12 (LRP12), transcript variant 1, mRNA.	730					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATACGACTGAGTGCACTTGTA	0.493													C	105503293	G	C	105503293	3	2	140	1	0	0	0	0	1	0	0	0	9024	1029	36	4	395	4	LRP12	8	105503293	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	27739924	105503293	40860729	39	9386											
NFX1	4799	broad.mit.edu	37	chr9	33351731	33351731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgactgtggtcacccGtgtatggcaccctgccatac	8	9	11	13	1	1	2	1	1	0	1	1	2	1	2	3	2	3	3	3	2	2	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:33351731G>A	uc003zsr.3	+	15	2754	c.2601G>A	c.(2599-2601)ccG>ccA	p.P867P	NFX1_uc003zsp.2_Silent_p.P866P|NFX1_uc010mjr.2_Silent_p.P867P|NFX1_uc003zsq.3_Silent_p.P866P	NM_002504	NP_002495	Q12986	NFX1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding 1 (NFX1), transcript variant 1, mRNA.	866					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GTGGTCACCCGTGTATGGCAC	0.552													A	33351731	G	A	33351731	2	1	140	1	0	0	0	0	0	0	0	1	10463	1132	40	1		1	NFX1	9	33351731	Silent	SNP	G	TCGA-14-1823-01A-01W-0643-08		33351731	107861700	40	9387											
VPS13A	23230	broad.mit.edu	37	chr9	79867155	79867155	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattttctgtacttaggtgaTaattggagagaagcacgaaa	14	13	10	4	1	1	2	0	1	1	1	1	5	1	3	0	2	2	2	0	2	6	7			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:79867155T>C	uc004akr.3	+	21	2435	c.2175T>C	c.(2173-2175)gaT>gaC	p.D725D	VPS13A_uc004akp.4_Silent_p.D725D|VPS13A_uc004akq.4_Silent_p.D725D|VPS13A_uc004aks.3_Silent_p.D725D	NM_033305	NP_150648	Q96RL7	VP13A_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog A (S. cerevisiae) (VPS13A), transcript variant A, mRNA.	725					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACTTAGGTGATAATTGGAGAG	0.343													C	79867155	T	C	79867155	2	2	140	1	0	0	0	0	0	0	0	1	17291	1403	49	3		3	VPS13A	9	79867155	Silent	SNP	T	TCGA-14-1823-01A-01W-0643-08	46515424	79867155	61346276	41	9388											
NUP214	8021	broad.mit.edu	37	chr9	134022964	134022964	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccagcggcaaagccaggctCtccccaggtatgtttaaatt	10	10	9	12	1	1	0	0	0	1	0	3	0	2	0	4	3	2	4	4	3	4	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr9:134022964C>G	uc004cag.3	+	13	2144	c.2033C>G	c.(2032-2034)tCt>tGt	p.S678C	NUP214_uc004cah.3_Missense_Mutation_p.S668C|NUP214_uc004cai.3_Missense_Mutation_p.S108C|NUP214_uc004caf.1_Missense_Mutation_p.S667C|NUP214_uc010mzf.3_Intron	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	678	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AAGCCAGGCTCTCCCCAGGTA	0.433			T	"DEK, SET, ABL1"	"AML, T-ALL"								G	134022964	C	G	134022964	3	3	140	1	0	0	0	0	1	0	0	0	10838	913	32	4	2087	4	NUP214	9	134022964	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	54155809	134022964	7190467	42	9389											
NAALADL1	10004	broad.mit.edu	37	chr11	64825878	64825878	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatctccaggtccaggTcctggggggccagtgagttg	6	8	16	11	0	1	1	0	1	1	0	4	2	3	2	5	6	0	1	5	6	0	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:64825878T>A	uc001ocn.3	-	0	132	c.116A>T	c.(115-117)gAc>gTc	p.D39V	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	39					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						CAGGTCCAGGTCCTGGGGGGC	0.637													A	64825878	T	A	64825878	3	1	140	1	0	0	0	0	1	0	0	0	10205	1667	58	5	2178	5	NAALADL1	11	64825878	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08		64825878	70180638	43	9390											
SART1	9092	broad.mit.edu	37	chr11	65743897	65743897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagaagctggagtctcGccagcggggctgggaggagg	8	6	20	7	2	1	2	0	1	1	1	2	5	1	5	1	6	2	2	1	6	2	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr11:65743897G>A	uc001ogl.3	+	12	1696	c.1604G>A	c.(1603-1605)cGc>cAc	p.R535H		NM_005146	NP_005137	O43290	SNUT1_HUMAN	Homo sapiens squamous cell carcinoma antigen recognized by T cells (SART1), mRNA.	535					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CTGGAGTCTCGCCAGCGGGGC	0.637													A	65743897	G	A	65743897	3	1	140	1	0	0	0	0	1	0	0	0	13938	1087	38	1	1654	1	SART1	11	65743897	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	918019	65743897	69262619	44	9391											
SLC38A1	81539	broad.mit.edu	37	chr12	46594885	46594885	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtagaaattacttaccataGaatgtcaagtagccaaaaat	19	10	6	6	0	1	2	1	0	0	2	1	2	1	2	2	0	3	2	2	0	10	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:46594885G>C	uc009zkj.1	-	12	1684	c.999C>G	c.(997-999)ttC>ttG	p.F333L	SLC38A1_uc001rpb.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpc.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpd.3_Missense_Mutation_p.F333L|SLC38A1_uc001rpe.3_Missense_Mutation_p.F333L|SLC38A1_uc010slh.2_Missense_Mutation_p.F306L|SLC38A1_uc001rpa.3_Missense_Mutation_p.F333L	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	333					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACTTACCATAGAATGTCAAGT	0.299													C	46594885	G	C	46594885	3	2	140	1	0	0	0	0	1	0	0	0	14695	933	33	4	484	4	SLC38A1	12	46594885	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		46594885	87257010	45	9392											
OR6C6	283365	broad.mit.edu	37	chr12	55688832	55688832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaaaaggagaaattaCggagaaagaaatacattggc	19	7	9	6	1	0	3	0	0	0	3	1	5	1	3	1	3	2	0	1	3	7	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:55688832C>T	uc010sph.2	-	0	185	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L61I(1)		breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GGAGAAATTACGGAGAAAGAA	0.388													T	55688832	C	T	55688832	3	4	140	1	0	0	0	0	1	0	0	0	11270	536	19	1	761	1	OR6C6	12	55688832	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	9093947	55688832	78163063	46	9393											
APPL2	55198	broad.mit.edu	37	chr12	105600948	105600948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggtgctgcttccgcCgggccgcggccacctctttt	4	9	14	14	4	1	1	0	0	1	1	2	2	2	1	5	4	2	2	5	4	0	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr12:105600948C>T	uc010swu.1	-	7	748	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	APPL2_uc010swt.2_Missense_Mutation_p.R128Q|APPL2_uc001tlf.1_Missense_Mutation_p.R171Q|APPL2_uc001tlg.1_5'UTR|APPL2_uc009zuq.3_Missense_Mutation_p.R128Q	NM_001251904	NP_001238833	Q8NEU8	DP13B_HUMAN	Homo sapiens adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2 (APPL2), transcript variant 2, mRNA.	171	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CTGCTTCCGCCGGGCCGCGGC	0.522													T	105600948	C	T	105600948	3	4	140	1	0	0	0	0	1	0	0	0	821	652	23	1	1538	1	APPL2	12	105600948	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	49912116	105600948	28250947	47	9394											
GZMB	3002	broad.mit.edu	37	chr14	25100297	25100297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtagcgtttcatggtttTctttatccagtgtacaaagc	9	17	8	7	1	2	0	1	0	1	0	3	0	3	0	1	1	3	4	1	1	5	8			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:25100297T>C	uc001wps.2	-	4	790	c.724A>G	c.(724-726)Aaa>Gaa	p.K242E	GZMB_uc010ama.2_Missense_Mutation_p.K230E|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	242	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TTCATGGTTTTCTTTATCCAG	0.493													C	25100297	T	C	25100297	3	2	140	1	0	0	0	0	1	0	0	0	6971	1792	62	3	23	3	GZMB	14	25100297	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08		25100297	82249243	48	9395											
ESRRB	2103	broad.mit.edu	37	chr14	76957925	76957925	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaggactacatcatggAtgaggagcactcccgcctcg	9	7	12	13	3	1	2	1	2	0	0	3	5	2	5	2	3	2	2	2	3	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:76957925A>C	uc001xsr.3	+	7	1294	c.923A>C	c.(922-924)gAt>gCt	p.D308A	ESRRB_uc001xso.3_Non-coding_Transcript|ESRRB_uc001xsq.1_Missense_Mutation_p.D308A	NM_004452	NP_004443	A2VDJ2	A2VDJ2_HUMAN	Homo sapiens estrogen-related receptor beta (ESRRB), mRNA.	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TACATCATGGATGAGGAGCAC	0.592													C	76957925	A	C	76957925	3	2	140	1	0	0	0	0	1	0	0	0	5302	333	12	5	941	5	ESRRB	14	76957925	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08	51857628	76957925	30391615	49	9396											
KCNK13	56659	broad.mit.edu	37	chr14	90528848	90528848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgctgggacttcaccggcgCcttctacttcgtgggcaccg	4	9	13	15	5	2	0	1	0	1	0	3	1	2	1	3	3	1	2	3	3	1	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr14:90528848C>T	uc001xye.1	+	0	741	c.299C>T	c.(298-300)gCc>gTc	p.A100V		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	100						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTCACCGGCGCCTTCTACTTC	0.692													T	90528848	C	T	90528848	3	4	140	1	0	0	0	0	1	0	0	0	8119	739	26	2	301	2	KCNK13	14	90528848	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	13570923	90528848	16820692	50	9397											
FOXN1	8456	broad.mit.edu	37	chr17	26862064	26862064	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaccccccaggactcgcCtctgcctgcccacaccccac	7	4	7	23	1	1	0	0	0	1	0	2	1	1	1	8	2	2	1	8	2	0	0			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:26862064C>G	uc010crm.3	+	7	1673	c.1475C>G	c.(1474-1476)cCt>cGt	p.P492R	FOXN1_uc002hbj.3_Missense_Mutation_p.P492R	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	492					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CAGGACTCGCCTCTGCCTGCC	0.687													G	26862064	C	G	26862064	3	3	140	1	0	0	0	0	1	0	0	0	6070	681	24	4	1501	4	FOXN1	17	26862064	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08		26862064	54333146	51	9398											
HOXB13	10481	broad.mit.edu	37	chr17	46805737	46805737	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggcacgggagctggggaCgtcccctggggcaccccagg	7	4	17	13	2	0	0	0	0	0	0	1	2	1	2	4	7	1	3	4	7	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:46805737C>A	uc002ioa.3	-	0	375	c.219G>T	c.(217-219)acG>acT	p.T73T		NM_006361	NP_006352	Q92826	HXB13_HUMAN	Homo sapiens homeobox B13 (HOXB13), mRNA.	73					angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						GAGCTGGGGACGTCCCCTGGG	0.652													A	46805737	C	A	46805737	2	1	140	1	0	0	0	0	0	0	0	1	7355	523	19	4		4	HOXB13	17	46805737	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	19943673	46805737	34389473	52	9399											
RNF213	57674	broad.mit.edu	37	chr17	78262155	78262155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaacaggcaggggcctcagCctctatggtgagtcatccgg	8	7	14	12	1	3	1	2	1	1	0	4	1	4	1	3	5	2	2	3	5	2	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr17:78262155C>G	uc002jyh.2	+	4	1093	c.950C>G	c.(949-951)gCc>gGc	p.A317G	RNF213_uc002jyf.3_Missense_Mutation_p.A268G|RNF213_uc021uen.1_Missense_Mutation_p.A268G|RNF213_uc002jyg.1_5'UTR	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	268										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGGGCCTCAGCCTCTATGGTG	0.642													G	78262155	C	G	78262155	3	3	140	1	0	0	0	0	1	0	0	0	13568	739	26	4	964	4	RNF213	17	78262155	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	31456418	78262155	2933055	53	9400											
C18orf62	284274	broad.mit.edu	37	chr18	73139434	73139434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattccccttgaatatccGtcccattcctgcagagtctt	9	13	5	14	1	1	2	0	1	1	1	5	2	5	2	5	0	1	1	5	0	3	5	rs142533881		TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr18:73139434G>A	uc002lma.1	-	0	156	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	C18orf62_uc010dqw.1_Non-coding_Transcript|C18orf62_uc002lmb.1_Non-coding_Transcript	NM_001037331	NP_001032408	Q3B7S5	CR062_HUMAN	Homo sapiens chromosome 18 open reading frame 62 (C18orf62), mRNA.	29						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6		Esophageal squamous(42;0.131)|Prostate(75;0.155)		OV - Ovarian serous cystadenocarcinoma(15;6.21e-06)		TTGAATATCCGTCCCATTCCT	0.498													A	73139434	G	A	73139434	3	1	140	1	0	0	0	0	1	0	0	0	1925	1144	40	1	232	1	C18orf62	18	73139434	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		73139434	4937814	54	9401											
FAM187B	148109	broad.mit.edu	37	chr19	35718884	35718884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatggatcctaagggacAgtcgagccacacaaattctg	13	8	10	10	1	1	0	0	0	1	0	3	3	2	2	2	2	2	1	2	2	3	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:35718884A>T	uc002nyk.1	-	0	745	c.700T>A	c.(700-702)Tgt>Agt	p.C234S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	234						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						CCTAAGGGACAGTCGAGCCAC	0.507													T	35718884	A	T	35718884	3	4	140	1	0	0	0	0	1	0	0	0	5559	188	7	5	417	5	FAM187B	19	35718884	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		35718884	23410099	55	9402											
ZIM3	114026	broad.mit.edu	37	chr19	57647409	57647409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggacttctcttgcgagaCtctctttcacatcctttggc	6	15	8	12	1	3	1	1	0	2	1	6	3	4	2	1	2	1	0	1	2	0	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr19:57647409C>G	uc002qnz.1	-	4	682	c.296G>C	c.(295-297)aGt>aCt	p.S99T		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTTGCGAGACTCTCTTTCAC	0.408													G	57647409	C	G	57647409	3	3	140	1	0	0	0	0	1	0	0	0	17786	565	20	4	1126	4	ZIM3	19	57647409	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	21928525	57647409	1481574	56	9403											
HNF4A	3172	broad.mit.edu	37	chr20	43048412	43048412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggcggagatgagccGggtgtccatacgcatccttg	7	8	16	10	3	0	2	0	1	0	1	2	4	2	3	3	4	3	2	3	4	1	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43048412G>A	uc002xma.3	+	6	877	c.788G>A	c.(787-789)cGg>cAg	p.R263Q	HNF4A_uc002xlt.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlu.3_Missense_Mutation_p.R241Q|HNF4A_uc002xlv.3_Missense_Mutation_p.R241Q|HNF4A_uc002xly.3_Missense_Mutation_p.R263Q|HNF4A_uc010ggq.3_Missense_Mutation_p.R256Q|HNF4A_uc002xlz.3_Missense_Mutation_p.R263Q	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	263					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GAGATGAGCCGGGTGTCCATA	0.572													A	43048412	G	A	43048412	3	1	140	1	0	0	0	0	1	0	0	0	7308	1116	39	1	867	1	HNF4A	20	43048412	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08		43048412	19977108	57	9404											
PABPC1L	80336	broad.mit.edu	37	chr20	43545422	43545422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgacgagcatggctcccGgggtttcggctttgtccatt	4	13	14	10	3	0	1	0	1	0	0	3	2	2	1	2	4	1	4	2	4	0	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43545422G>A	uc010ggv.1	+	2	495	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	PABPC1L_uc010zwq.1_Non-coding_Transcript	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	138	RRM 2.						nucleotide binding|RNA binding	p.R138R(1)		breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CATGGCTCCCGGGGTTTCGGC	0.557													A	43545422	G	A	43545422	3	1	140	1	0	0	0	0	1	0	0	0	11440	1116	39	1	423	1	PABPC1L	20	43545422	Missense_Mutation	SNP	G	TCGA-14-1823-01A-01W-0643-08	497010	43545422	19480098	58	9405											
RBPJL	11317	broad.mit.edu	37	chr20	43938206	43938206	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcctgccctactcccaGgtcatccccagagcacacca	9	6	6	20	0	1	1	1	0	0	1	3	1	3	1	7	1	4	1	7	1	1	1			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chr20:43938206G>T	uc002xns.3	+	3	204	c.132_splice	c.e3-1	p.R44_splice	MATN4_uc002xnp.2_5'Flank|MATN4_uc002xnn.2_5'Flank|MATN4_uc002xno.2_5'Flank|MATN4_uc002xnr.1_5'Flank|RBPJL_uc002xnt.3_Splice_Site_p.R44_splice	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	44					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCTACTCCCAGGTCATCCCCA	0.607													T	43938206	G	T	43938206	5	4	140	1	0	0	0	0	0	0	1	0	13250	1014	35	4	141	4	RBPJL	20	43938206	Splice_Site	SNP	G	TCGA-14-1823-01A-01W-0643-08	392784	43938206	19087314	59	9406											
SSX1	6756	broad.mit.edu	37	chrX	48118025	48118025	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacaggccacagacttccAggggaatgattttgataatg	14	10	10	7	0	0	3	0	2	0	1	1	4	1	4	2	3	1	0	2	3	4	5			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:48118025A>T	uc004djb.1	+	3	330	c.239A>T	c.(238-240)cAg>cTg	p.Q80L		NM_005635	NP_005626	Q16384	SSX1_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 1 (SSX1), mRNA.	80	KRAB-related.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						ACAGACTTCCAGGGGAATGAT	0.448			T	SS18	synovial sarcoma								T	48118025	A	T	48118025	3	4	140	1	0	0	0	0	1	0	0	0	15299	188	7	5	249	5	SSX1	23	48118025	Missense_Mutation	SNP	A	TCGA-14-1823-01A-01W-0643-08		48118025	107152535	60	9407											
FOXP3	50943	broad.mit.edu	37	chrX	49113238	49113238	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctggctcttcgaagaccTtctcacatccgggccacttg	6	11	8	16	2	3	1	1	0	3	1	6	2	4	1	4	2	0	1	4	2	1	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:49113238T>A	uc004dnf.4	-	5	805	c.617A>T	c.(616-618)aAg>aTg	p.K206M	FOXP3_uc011mnb.2_Missense_Mutation_p.K229M|FOXP3_uc011mnc.2_Missense_Mutation_p.K206M|FOXP3_uc004dne.4_Missense_Mutation_p.K171M|FOXP3_uc022bwa.1_Missense_Mutation_p.K156M	NM_014009	NP_054728	Q9BZS1	FOXP3_HUMAN	Homo sapiens forkhead box P3 (FOXP3), transcript variant 1, mRNA.	206					B cell homeostasis|cerebellum development|chromatin remodeling|embryo development|myeloid cell homeostasis|negative regulation of activated T cell proliferation|negative regulation of chronic inflammatory response|negative regulation of CREB transcription factor activity|negative regulation of cytokine secretion|negative regulation of histone acetylation|negative regulation of histone deacetylation|negative regulation of interferon-gamma biosynthetic process|negative regulation of interferon-gamma production|negative regulation of interleukin-10 production|negative regulation of interleukin-2 biosynthetic process|negative regulation of interleukin-2 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of interleukin-6 production|negative regulation of isotype switching to IgE isotypes|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell cytokine production|negative regulation of tumor necrosis factor production|pattern specification process|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation|positive regulation of histone acetylation|positive regulation of immature T cell proliferation in thymus|positive regulation of peripheral T cell tolerance induction|positive regulation of T cell anergy|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor-beta1 production|post-embryonic development|regulation of isotype switching to IgG isotypes|response to virus|T cell homeostasis|T cell receptor signaling pathway|tolerance induction to self antigen	cytoplasm|nucleus|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|histone acetyltransferase binding|histone deacetylase binding|NF-kappaB binding|NFAT protein binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription corepressor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)	10	Ovarian(276;0.236)					TTCGAAGACCTTCTCACATCC	0.617													A	49113238	T	A	49113238	3	1	140	1	0	0	0	0	1	0	0	0	6079	1609	56	5	706	5	FOXP3	23	49113238	Missense_Mutation	SNP	T	TCGA-14-1823-01A-01W-0643-08	995213	49113238	106157322	61	9408											
HUWE1	10075	broad.mit.edu	37	chrX	53590731	53590731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtactgttcccagatcCgccatccctctcaagcaact	10	11	5	15	1	1	1	1	0	1	1	5	1	4	1	4	0	3	3	4	0	4	3			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:53590731C>T	uc004dsp.3	-	51	7483	c.7081G>A	c.(7081-7083)Gga>Aga	p.G2361R	HUWE1_uc004dsn.3_Missense_Mutation_p.G1185R	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2361	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.G2224R(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TTCCCAGATCCGCCATCCCTC	0.453													T	53590731	C	T	53590731	3	4	140	1	0	0	0	0	1	0	0	0	7519	661	23	1	6175	1	HUWE1	23	53590731	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	4477493	53590731	101679829	62	9409											
AWAT2	158835	broad.mit.edu	37	chrX	69261810	69261810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcattggtagaggctcccCgactgccaggggagacagtg	8	6	17	10	1	0	2	0	0	0	2	1	4	1	2	3	5	1	3	3	5	1	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69261810C>T	uc004dxt.1	-	6	856	c.850G>A	c.(850-852)Ggg>Agg	p.G284R		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	284						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						AGAGGCTCCCCGACTGCCAGG	0.502													T	69261810	C	T	69261810	3	4	140	1	0	0	0	0	1	0	0	0	1240	652	23	1	155	1	AWAT2	23	69261810	Missense_Mutation	SNP	C	TCGA-14-1823-01A-01W-0643-08	15671079	69261810	86008750	63	9410											
OTUD6A	139562	broad.mit.edu	37	chrX	69282974	69282974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcgactccttcggctaCgacgacttcatgatctactg	9	10	8	14	4	2	1	1	1	1	0	4	4	3	1	2	1	3	1	2	1	2	4			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:69282974C>T	uc004dxu.1	+	0	634	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	200	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CCTTCGGCTACGACGACTTCA	0.622													T	69282974	C	T	69282974	2	4	140	1	0	0	0	0	0	0	0	1	11392	547	19	1		1	OTUD6A	23	69282974	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	21164	69282974	85987586	64	9411											
P2RY10	27334	broad.mit.edu	37	chrX	78216461	78216461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagactggaagcgtaggtaCgatgtgggcatcagtgctgc	10	8	16	7	2	1	1	1	0	0	1	1	4	1	2	0	3	4	4	0	3	3	2			TCGA-14-1823-01A-01W-0643-08	TCGA-14-1823-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c3ddf6a-e496-4b87-833b-084d814b6876	4ba7b443-5214-4348-bac2-977d5d76b2f8	g.chrX:78216461C>T	uc022bzl.1	+	0	444	c.444C>T	c.(442-444)taC>taT	p.Y148Y	P2RY10_uc004ede.3_Silent_p.Y148Y|P2RY10_uc004edf.3_Silent_p.Y148Y	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	148						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.Y148Y(2)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						AGCGTAGGTACGATGTGGGCA	0.498													T	78216461	C	T	78216461	2	4	140	1	0	0	0	0	0	0	0	1	11423	547	19	1		1	P2RY10	23	78216461	Silent	SNP	C	TCGA-14-1823-01A-01W-0643-08	8933487	78216461	77054099	65	9412											
PEX14	5195	broad.mit.edu	37	chr1	10683104	10683104	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccccctcatcctgggcgGccgagaggacagaaagcagc	9	4	13	15	2	1	2	1	0	0	2	3	4	3	3	4	3	2	2	4	3	1	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:10683104G>T	uc001arn.3	+	5	434	c.413G>T	c.(412-414)gGc>gTc	p.G138V	PEX14_uc009vmu.1_Missense_Mutation_p.G95V|PEX14_uc009vmv.3_Missense_Mutation_p.G74V|PEX14_uc010oam.2_Missense_Mutation_p.G74V|PEX14_uc010oan.2_Missense_Mutation_p.G95V|PEX14_uc009vmw.3_Missense_Mutation_p.G74V	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	138					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCTGGGCGGCCGAGAGGAC	0.557													T	10683104	G	T	10683104	3	4	141	1	0	0	0	0	1	0	0	0	11819	1203	42	4	435	4	PEX14	1	10683104	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		10683104	238567517	1	9413											
CLCNKA	1188	broad.mit.edu	37	chr1	16378220	16378220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggagctgctatcgggcGcctctttggggagactctct	5	10	14	12	2	2	1	0	0	2	1	4	3	2	2	2	4	2	2	2	4	1	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:16378220G>A	uc001axx.4	+	13	1449	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	CLCNKA_uc021ogl.1_Missense_Mutation_p.R85H|CLCNKA_uc021ogm.1_Missense_Mutation_p.R269H|CLCNKA_uc001axy.4_Missense_Mutation_p.R269H	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	438					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R438H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GCTATCGGGCGCCTCTTTGGG	0.622													A	16378220	G	A	16378220	3	1	141	1	0	0	0	0	1	0	0	0	3500	1087	38	1		1	CLCNKA	1	16378220	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	5695116	16378220	232872401	2	9414											
SRRM1	10250	broad.mit.edu	37	chr1	24996658	24996658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaagggtctcatcctcccGatctgtctccgggtctcctg	6	11	10	14	2	4	1	1	0	4	1	9	2	6	1	4	2	0	0	4	2	2	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:24996658G>A	uc001bjm.3	+	14	2476	c.2252G>A	c.(2251-2253)cGa>cAa	p.R751Q	SRRM1_uc010oel.2_Missense_Mutation_p.R763Q|SRRM1_uc009vri.1_Missense_Mutation_p.R680Q	NM_005839	NP_005830	Q8IYB3	SRRM1_HUMAN	Homo sapiens serine/arginine repetitive matrix 1 (SRRM1), mRNA.	751	Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TCATCCTCCCGATCTGTCTCC	0.532													A	24996658	G	A	24996658	3	1	141	1	0	0	0	0	1	0	0	0	15264	1058	37	1	2310	1	SRRM1	1	24996658	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	8618438	24996658	224253963	3	9415											
TAL1	6886	broad.mit.edu	37	chr1	47685764	47685764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcagcttgcggagctcGgcaaaggccccgttcacatt	8	8	13	12	3	2	0	2	0	0	0	3	2	2	2	2	4	3	4	2	4	1	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:47685764G>A	uc001cqx.2	-	3	1201	c.624C>T	c.(622-624)gcC>gcT	p.A208A	TAL1_uc009vyq.2_5'UTR|TAL1_uc001cqy.2_Silent_p.A208A	NM_003189	NP_003180	P17542	TAL1_HUMAN	Homo sapiens T-cell acute lymphocytic leukemia 1 (TAL1), mRNA.	208	Helix-loop-helix motif.				basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						TGCGGAGCTCGGCAAAGGCCC	0.572			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								A	47685764	G	A	47685764	2	1	141	1	0	0	0	0	0	0	0	1	15638	1103	39	1		1	TAL1	1	47685764	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	22689106	47685764	201564857	4	9416											
L1TD1	54596	broad.mit.edu	37	chr1	62675593	62675593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaagaggaagagttttccGagctagaggagctggatgaa	13	8	14	6	1	1	4	1	1	0	3	2	8	2	7	1	3	2	3	1	3	4	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:62675593G>A	uc021ooc.1	+	4	1582	c.1147G>A	c.(1147-1149)Gag>Aag	p.E383K	L1TD1_uc001dae.4_Missense_Mutation_p.E383K	NM_001164835	NP_061952	Q5T7N2	LITD1_HUMAN	Homo sapiens LINE-1 type transposase domain containing 1 (L1TD1), transcript variant 1, mRNA.	383	Glu-rich.							p.S382S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						AGAGTTTTCCGAGCTAGAGGA	0.488													A	62675593	G	A	62675593	3	1	141	1	0	0	0	0	1	0	0	0	8648	1059	37	1	1153	1	L1TD1	1	62675593	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	14989829	62675593	186575028	5	9417											
PPFIA4	8497	broad.mit.edu	37	chr1	203029484	203029484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccggctcaagctccGcctggccattcaggagatgg	7	7	12	15	2	2	1	2	0	0	1	3	2	3	1	5	4	2	3	5	4	1	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr1:203029484G>A	uc009xaj.3	+	26	3098	c.3098G>A	c.(3097-3099)cGc>cAc	p.R1033H	PPFIA4_uc010pqf.2_Missense_Mutation_p.R615H|PPFIA4_uc001gyz.3_Missense_Mutation_p.R402H|PPFIA4_uc001gza.3_Missense_Mutation_p.R402H|PPFIA4_uc001gzb.1_Missense_Mutation_p.R97H			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	402					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CTCAAGCTCCGCCTGGCCATT	0.612													A	203029484	G	A	203029484	3	1	141	1	0	0	0	0	1	0	0	0	12389	1087	38	1	1239	1	PPFIA4	1	203029484	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	140353891	203029484	46221137	6	9418											
TET3	200424	broad.mit.edu	37	chr2	74274539	74274539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaggcaccctcttcctccCcggccccggccccatcccct	3	7	8	23	2	1	0	0	0	1	0	4	1	4	1	10	4	0	1	10	4	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:74274539C>T	uc002skb.4	+	0	1090	c.1090C>T	c.(1090-1092)Ccg>Tcg	p.P364S	TET3_uc010fez.2_Missense_Mutation_p.P364S	NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	364							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTTCCTCCCCGGCCCCGGC	0.652													T	74274539	C	T	74274539	3	4	141	1	0	0	0	0	1	0	0	0	15871	623	22	2	1092	2	TET3	2	74274539	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		74274539	168924834	7	9419											
FAM123C	205147	broad.mit.edu	37	chr2	131521195	131521195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgcgccgaggccccaCgccccgtgccccacccaccc	4	3	10	24	4	0	0	0	0	0	0	0	1	0	0	9	2	2	1	9	2	0	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:131521195C>T	uc021voy.1	+	0	1550	c.1550C>T	c.(1549-1551)aCg>aTg	p.T517M	FAM123C_uc002trw.2_Missense_Mutation_p.T517M|FAM123C_uc010fmv.2_Missense_Mutation_p.T517M|FAM123C_uc010fms.1_Missense_Mutation_p.T517M|FAM123C_uc010fmt.1_Missense_Mutation_p.T517M|FAM123C_uc010fmu.1_Missense_Mutation_p.T517M	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	517										breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		CGAGGCCCCACGCCCCGTGCC	0.687													T	131521195	C	T	131521195	3	4	141	1	0	0	0	0	1	0	0	0	5469	536	19	1	1552	1	FAM123C	2	131521195	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	57246656	131521195	111678178	8	9420											
THSD7B	80731	broad.mit.edu	37	chr2	137988713	137988713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgctgagcgagtggaCggagtggtcatcctgttccc	5	11	15	10	2	1	1	1	1	0	0	3	4	3	3	2	3	2	2	2	3	0	1	rs61741154		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:137988713C>T	uc002tva.1	+	6	1730	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.T467M	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.									p.T608M(1)		NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AGCGAGTGGACGGAGTGGTCA	0.517													T	137988713	C	T	137988713	3	4	141	1	0	0	0	0	1	0	0	0	15980	536	19	1	1756	1	THSD7B	2	137988713	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	6467518	137988713	105210660	9	9421											
XIRP2	129446	broad.mit.edu	37	chr2	168101235	168101235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctttatgaaaaagtttcGttaatgaccagcagtgaaga	14	13	8	6	1	1	4	0	3	1	1	3	4	1	4	1	0	1	3	1	0	5	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:168101235G>A	uc002udx.3	+	8	3422	c.3333G>A	c.(3331-3333)tcG>tcA	p.S1111S	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.S936S|XIRP2_uc010fpq.3_Silent_p.S889S|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	936					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAAAAGTTTCGTTAATGACCA	0.368													A	168101235	G	A	168101235	2	1	141	1	0	0	0	0	0	0	0	1	17532	1132	40	1		1	XIRP2	2	168101235	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	30112522	168101235	75098138	10	9422											
TTN	7273	broad.mit.edu	37	chr2	179647001	179647001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggggctttgggttgccGccaacttggcatccaaacac	9	9	11	12	1	0	0	0	0	0	0	1	0	1	0	3	4	3	3	3	4	2	3	rs141768043		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr2:179647001G>A	uc021vsy.1	-	19	3543	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1106	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488													A	179647001	G	A	179647001	2	1	141	1	0	0	0	0	0	0	0	1	16837	1074	38	1		1	TTN	2	179647001	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	11545766	179647001	63552372	11	9423											
METTL6	131965	broad.mit.edu	37	chr3	15468122	15468122	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctgaggtgagtttcaCgcctcaaacagcacaggggg	10	9	12	10	1	2	2	2	2	0	0	3	2	3	2	2	3	2	2	2	3	1	2	rs140376877	by1000genomes	TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:15468122C>T	uc003bzs.1	-	1					METTL6_uc011avp.1_5'UTR|METTL6_uc003bzt.1_5'UTR|EAF1_uc003bzu.3_5'Flank|EAF1_uc011avq.2_5'Flank	NM_152396	NP_689609	Q8TCB7	METL6_HUMAN	Homo sapiens methyltransferase like 6 (METTL6), mRNA.								methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GTGAGTTTCACGCCTCAAACA	0.418													T	15468122	C	T	15468122	1	4	141	1	0	0	0	0	0	0	0	0	9579	551	19	1		1	METTL6	3	15468122	Translation_Start_Site	SNP	C	TCGA-14-1825-01A-01W-0643-08		15468122	182554308	12	9424											
TIPARP	25976	broad.mit.edu	37	chr3	156422618	156422618	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtggaaagcatgctacaAtgtttggacaaggcagttat	12	12	11	6	0	1	0	0	0	1	0	1	2	1	2	0	3	3	5	0	3	5	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:156422618A>G	uc003fav.3	+	5	2094	c.1672A>G	c.(1672-1674)Atg>Gtg	p.M558V	TIPARP_uc003faw.3_Missense_Mutation_p.M558V|TIPARP_uc021xgg.1_Missense_Mutation_p.M558V	NM_015508	NP_056323	Q7Z3E1	PARPT_HUMAN	Homo sapiens TCDD-inducible poly(ADP-ribose) polymerase (TIPARP), transcript variant 2, mRNA.	558	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GCATGCTACAATGTTTGGACA	0.408													G	156422618	A	G	156422618	3	3	141	1	0	0	0	0	1	0	0	0	16024	101	4	3	1690	3	TIPARP	3	156422618	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	140954496	156422618	41599812	13	9425											
VPS8	23355	broad.mit.edu	37	chr3	184648300	184648300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatatcttatccattcccGgacacagtgcagaggagaag	14	8	9	10	1	1	2	0	0	1	2	3	4	3	3	2	2	1	1	2	2	4	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr3:184648300G>A	uc021xik.1	+	32	2930	c.2842G>A	c.(2842-2844)Gga>Aga	p.G948R	VPS8_uc003fpb.1_Missense_Mutation_p.G946R|VPS8_uc010hyd.1_Missense_Mutation_p.G856R|VPS8_uc010hye.1_Missense_Mutation_p.G375R	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	948							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			ATCCATTCCCGGACACAGTGC	0.393													A	184648300	G	A	184648300	3	1	141	1	0	0	0	0	1	0	0	0	17320	1117	39	1	2968	1	VPS8	3	184648300	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	28225682	184648300	13374130	14	9426											
FGG	2266	broad.mit.edu	37	chr4	155528020	155528020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtcactaggatcatcGccaaaatcaaagccatcaaa	17	8	5	11	1	4	0	4	0	0	0	5	1	4	1	2	1	2	0	2	1	6	2	rs146218442		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr4:155528020G>A	uc003ioj.3	-	7	1107	c.966C>T	c.(964-966)ggC>ggT	p.G322G	FGG_uc003iog.3_Silent_p.G322G	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	322	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TAGGATCATCGCCAAAATCAA	0.473													A	155528020	G	A	155528020	2	1	141	1	0	0	0	0	0	0	0	1	5919	1074	38	1		1	FGG	4	155528020	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08		155528020	35626256	15	9427											
NKD2	85409	broad.mit.edu	37	chr5	1033572	1033572	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagggcagcaaaccgCgagggcccgcgaggaccggg	10	0	20	11	5	0	1	0	0	0	1	0	6	0	3	3	5	2	2	3	5	1	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:1033572C>G	uc003jbt.1	+	4	293	c.288C>G	c.(286-288)cgC>cgG	p.R96R	NKD2_uc010itf.1_Silent_p.R96R	NM_033120	NP_149111	Q969F2	NKD2_HUMAN	Homo sapiens naked cuticle homolog 2 (Drosophila) (NKD2), mRNA.	96	Targeting to the basolateral cell membrane.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			CAGCAAACCGCGAGGGCCCGC	0.692													G	1033572	C	G	1033572	2	3	141	1	0	0	0	0	0	0	0	1	10518	755	27	4		4	NKD2	5	1033572	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08		1033572	179881688	16	9428											
PCDHGC5	56103	broad.mit.edu	37	chr5	140741624	140741624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggacgcggcccgccagcGcctgctggtcgctgtgcgtg	3	6	17	15	6	0	0	0	0	0	0	1	1	0	1	3	3	3	2	3	3	0	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:140741624G>A	uc003ljs.2	+	0	1922	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003lju.2_5'Flank|PCDHGC5_uc011dar.2_Missense_Mutation_p.R641H|PCDHGC5_uc011das.2_5'Flank	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	643	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCGCCAGCGCCTGCTGGTC	0.687													A	140741624	G	A	140741624	3	1	141	1	0	0	0	0	1	0	0	0	11647	1087	38	1		1	PCDHGC5	5	140741624	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	139708052	140741624	40173636	17	9429											
KIF4B	285643	broad.mit.edu	37	chr5	154396976	154396976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaagaagactgctccagCtccctccccttttgacctcc	8	10	6	17	0	1	3	1	1	0	2	5	3	5	3	6	0	2	2	6	0	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr5:154396976C>A	uc010jih.1	+	0	3717	c.3557C>A	c.(3556-3558)gCt>gAt	p.A1186D		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1186	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ACTGCTCCAGCTCCCTCCCCT	0.493													A	154396976	C	A	154396976	3	1	141	1	0	0	0	0	1	0	0	0	8362	797	28	4	3559	4	KIF4B	5	154396976	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	13655352	154396976	26518284	18	9430											
DUSP22	56940	broad.mit.edu	37	chr6	335117	335117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttattattctgcagggaGttaaatacctgtgcatccca	10	16	7	8	0	1	0	0	0	1	0	2	1	2	1	2	1	3	3	2	1	5	7			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:335117G>T	uc003msx.3	+	3	581	c.142G>T	c.(142-144)Gtt>Ttt	p.V48F	DUSP22_uc011dhn.1_Missense_Mutation_p.V48F|DUSP22_uc003msy.1_Missense_Mutation_p.V5F	NM_020185	NP_064570	Q9NRW4	DUS22_HUMAN	Homo sapiens dual specificity phosphatase 22 (DUSP22), mRNA.	48					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCTGCAGGGAGTTAAATACCT	0.299													T	335117	G	T	335117	3	4	141	1	0	0	0	0	1	0	0	0	4860	1029	36	4	156	4	DUSP22	6	335117	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		335117	170779950	19	9431											
HFE	3077	broad.mit.edu	37	chr6	26091215	26091215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagccccgaactccatggGtttccagtagaatttcaagc	10	10	10	11	1	1	1	1	0	0	1	3	3	3	2	4	2	3	2	4	2	4	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:26091215G>A	uc003nfx.1	+	1	383	c.223G>A	c.(223-225)Gtt>Att	p.V75I	HFE_uc003nfy.1_Missense_Mutation_p.V52I|HFE_uc010jqe.1_Missense_Mutation_p.V75I|HFE_uc003nfz.1_Intron|HFE_uc003ngd.1_Intron|HFE_uc003nga.1_Missense_Mutation_p.V75I|HFE_uc003ngb.1_Missense_Mutation_p.V75I|HFE_uc003ngc.1_Missense_Mutation_p.V75I|HFE_uc003nge.1_Intron|HFE_uc003ngf.1_Intron|HFE_uc021yms.1_5'Flank	NM_000410	NP_000401	Q30201	HFE_HUMAN	Homo sapiens hemochromatosis (HFE), transcript variant 1, mRNA.	75	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCCATGGGTTTCCAGTAG	0.488									Hemochromatosis				A	26091215	G	A	26091215	3	1	141	1	0	0	0	0	1	0	0	0	7136	1261	44	2	229	2	HFE	6	26091215	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	25756098	26091215	145023852	20	9432											
C6orf170	221322	broad.mit.edu	37	chr6	121625568	121625568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatattcatttagaagaCgaacctacaaagcagtgcac	15	10	7	9	1	2	3	1	1	1	2	2	4	2	3	1	0	4	2	1	0	6	5			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr6:121625568C>T	uc003pyo.1	-	7	946	c.878G>A	c.(877-879)cGt>cAt	p.R293H	C6orf170_uc003pyq.1_Non-coding_Transcript	NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	293					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		ATTTAGAAGACGAACCTACAA	0.358													T	121625568	C	T	121625568	3	4	141	1	0	0	0	0	1	0	0	0	2366	536	19	1	2995	1	C6orf170	6	121625568	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	95534353	121625568	49489499	21	9433											
RBAK	57786	broad.mit.edu	37	chr7	5097035	5097035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgttggagaactataGccatctagtttctgtgggtg	8	15	13	5	0	2	2	0	1	2	1	2	3	2	2	1	2	2	2	1	2	4	5			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr7:5097035G>A	uc021zzc.1	+	2	307	c.125G>A	c.(124-126)aGc>aAc	p.S42N	RBAK_uc003snr.3_Missense_Mutation_p.S42N|RBAK_uc010kss.1_Missense_Mutation_p.S42N|RBAK_uc003sns.1_Missense_Mutation_p.S42N	NM_001204513	NP_001191442	Q9NYW8	RBAK_HUMAN	Homo sapiens RBAK-LOC389458 readthrough (RBAK-LOC389458), mRNA.	42	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		GAGAACTATAGCCATCTAGTT	0.433													A	5097035	G	A	5097035	3	1	141	1	0	0	0	0	1	0	0	0	13188	971	34	2	131	2	RBAK	7	5097035	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		5097035	154041628	22	9434											
PDGFRL	5157	broad.mit.edu	37	chr8	17447275	17447275	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaaggattctcgcctcagGtaagcatttttttttaaaac	11	17	6	7	1	2	0	1	0	1	0	3	1	2	1	1	2	2	2	1	2	4	9			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr8:17447275G>A	uc003wxr.3	+	3	798	c.353_splice	c.e3+1	p.S118_splice		NM_006207	NP_006198	Q15198	PGFRL_HUMAN	Homo sapiens platelet-derived growth factor receptor-like (PDGFRL), mRNA.	118	Ig-like C2-type 1.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CTCGCCTCAGGTAAGCATTTT	0.403													A	17447275	G	A	17447275	5	1	141	1	0	0	0	0	0	0	1	0	11739	1275	44	2	360	2	PDGFRL	8	17447275	Splice_Site	SNP	G	TCGA-14-1825-01A-01W-0643-08		17447275	128916747	23	9435											
RANBP6	26953	broad.mit.edu	37	chr9	6014248	6014248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccatggtacgtaacaGagctgcaatcactgtttcat	11	14	7	9	1	2	1	2	0	0	1	3	1	3	1	1	1	4	5	1	1	3	5			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:6014248G>T	uc003zjr.3	-	0	1393	c.1360C>A	c.(1360-1362)Ctg>Atg	p.L454M	RANBP6_uc011lmf.2_Missense_Mutation_p.L102M|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	454					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		GTACGTAACAGAGCTGCAATC	0.413													T	6014248	G	T	6014248	3	4	141	1	0	0	0	0	1	0	0	0	13119	933	33	4	1961	4	RANBP6	9	6014248	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		6014248	135199183	24	9436											
PLIN2	123	broad.mit.edu	37	chr9	19120899	19120899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagttcttcctcagtgagagGgaggtactgttctaccaaca	10	12	10	9	0	3	1	1	1	2	1	4	3	4	2	2	2	3	3	2	2	4	6			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:19120899G>A	uc003zno.3	-	4	784	c.574C>T	c.(574-576)Cct>Tct	p.P192S	PLIN2_uc011lna.2_Missense_Mutation_p.P164S|PLIN2_uc011lnb.2_Intron	NM_001122	NP_001113	Q99541	PLIN2_HUMAN	Homo sapiens perilipin 2 (PLIN2), transcript variant 1, mRNA.	192					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAGTGAGAGGGAGGTACTGT	0.403													A	19120899	G	A	19120899	3	1	141	1	0	0	0	0	1	0	0	0	12167	1232	43	2	755	2	PLIN2	9	19120899	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	13106651	19120899	122092532	25	9437											
TMOD1	7111	broad.mit.edu	37	chr9	100353675	100353675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttacccagcaaggacccCggcttcgggcatccaacgca	10	6	9	16	3	0	0	0	0	0	0	2	1	1	1	4	3	3	4	4	3	3	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:100353675C>T	uc004axl.2	+	8	1109	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W	TMOD1_uc004axk.2_Missense_Mutation_p.R325W	NM_001166116	NP_003266	P28289	TMOD1_HUMAN	Homo sapiens tropomodulin 1 (TMOD1), transcript variant 2, mRNA.	325					muscle filament sliding	cytosol	actin binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		GCAAGGACCCCGGCTTCGGGC	0.512													T	100353675	C	T	100353675	3	4	141	1	0	0	0	0	1	0	0	0	16333	643	23	1	1003	1	TMOD1	9	100353675	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	81232776	100353675	40859756	26	9438											
SLC44A1	23446	broad.mit.edu	37	chr9	108110683	108110683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagccttctgaatacactAcatctccaaaatcttctgtt	13	14	3	11	0	4	1	0	1	4	0	5	1	4	1	2	0	3	1	2	0	7	6			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:108110683A>G	uc004bcn.3	+	4	672	c.451A>G	c.(451-453)Aca>Gca	p.T151A		NM_080546	NP_536856	Q8WWI5	CTL1_HUMAN	Homo sapiens solute carrier family 44, member 1 (SLC44A1), mRNA.	151						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGAATACACTACATCTCCAAA	0.373													G	108110683	A	G	108110683	3	3	141	1	0	0	0	0	1	0	0	0	14729	391	14	3	469	3	SLC44A1	9	108110683	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	7757008	108110683	33102748	27	9439											
MED22	6837	broad.mit.edu	37	chr9	136211100	136211100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctggttgcgctggtcaAtggcctcgttcacggagggg	4	10	17	10	3	2	0	2	0	0	0	3	1	2	1	1	6	2	5	1	6	1	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr9:136211100A>G	uc004cdc.3	-	3	527	c.293T>C	c.(292-294)aTt>aCt	p.I98T	MED22_uc004cdd.3_Missense_Mutation_p.I98T	NM_133640	NP_598395	Q15528	MED22_HUMAN	Homo sapiens mediator complex subunit 22 (MED22), transcript variant b, mRNA.	98					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|mediator complex|soluble fraction	protein binding	p.A97V(1)		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)		GCGCTGGTCAATGGCCTCGTT	0.602													G	136211100	A	G	136211100	3	3	141	1	0	0	0	0	1	0	0	0	9515	101	4	3	327	3	MED22	9	136211100	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	28100417	136211100	5002331	28	9440											
THNSL1	79896	broad.mit.edu	37	chr10	25313035	25313035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtagaaagagcacagataCtgttggaaagatgtatccat	16	9	10	6	1	0	4	0	0	0	4	1	5	1	5	1	1	2	4	1	1	5	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr10:25313035C>A	uc001isi.4	+	2	1212	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	ENKUR_uc001ish.1_Intron|THNSL1_uc021pol.1_Missense_Mutation_p.L295M	NM_024838	NP_079114	Q8IYQ7	THNS1_HUMAN	Homo sapiens threonine synthase-like 1 (S. cerevisiae) (THNSL1), mRNA.	295					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AGCACAGATACTGTTGGAAAG	0.458													A	25313035	C	A	25313035	3	1	141	1	0	0	0	0	1	0	0	0	15962	564	20	4	885	4	THNSL1	10	25313035	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		25313035	110221712	29	9441											
OR52R1	119695	broad.mit.edu	37	chr11	4825094	4825094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggaatggcttggtgttGgcagaagggcatcctagaca	9	9	16	7	0	0	2	0	0	0	2	1	3	1	3	1	6	0	4	1	6	3	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:4825094G>T	uc021qcs.1	-	0	517	c.517C>A	c.(517-519)Caa>Aaa	p.Q173K		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCTTGGTGTTGGCAGAAGGGC	0.552													T	4825094	G	T	4825094	3	4	141	1	0	0	0	0	1	0	0	0	11207	1357	47	4	433	4	OR52R1	11	4825094	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		4825094	130181422	30	9442											
APBB1	322	broad.mit.edu	37	chr11	6424912	6424912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggctgctcccctgtgaggGggaggcccggccggggggtt	2	6	22	11	2	0	1	0	1	0	0	1	2	1	2	4	9	1	3	4	9	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:6424912G>A	uc001mdb.1	-	2	962	c.862C>T	c.(862-864)Ccc>Tcc	p.P288S	APBB1_uc001mdd.3_Missense_Mutation_p.P68S|APBB1_uc001mdc.1_Missense_Mutation_p.P288S|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_5'Flank|APBB1_uc010rae.1_Missense_Mutation_p.P53S|APBB1_uc009yey.2_Missense_Mutation_p.P29S|APBB1_uc009yfa.2_Missense_Mutation_p.P29S|APBB1_uc010rag.1_Missense_Mutation_p.P29S|APBB1_uc009yfb.2_Missense_Mutation_p.P29S|APBB1_uc001mde.2_Missense_Mutation_p.P29S|APBB1_uc010rah.1_Missense_Mutation_p.P29S	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	288					apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CCCTGTGAGGGGGAGGCCCGG	0.652													A	6424912	G	A	6424912	3	1	141	1	0	0	0	0	1	0	0	0	761	1232	43	2	1318	2	APBB1	11	6424912	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1599818	6424912	128581604	31	9443											
OR5M1	390168	broad.mit.edu	37	chr11	56380529	56380529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccactaagaaacccataCatgtaagggatagtgaccag	17	6	8	10	0	0	2	0	1	0	1	0	3	0	3	3	1	3	1	3	1	6	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:56380529C>T	uc001nja.1	-	0	450	c.450G>A	c.(448-450)atG>atA	p.M150I	OR8U8_uc001nit.2_Intron	NM_001004740	NP_001004740	Q8NGP8	OR5M1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 1 (OR5M1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						GAAACCCATACATGTAAGGGA	0.458													T	56380529	C	T	56380529	3	4	141	1	0	0	0	0	1	0	0	0	11248	478	17	2	501	2	OR5M1	11	56380529	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	49955617	56380529	78625987	32	9444											
NUMA1	4926	broad.mit.edu	37	chr11	71717105	71717105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccccactggacacccCggcctgggaacgacgagcag	9	2	15	15	3	0	0	0	0	0	0	0	4	0	2	5	5	2	1	5	5	1	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:71717105C>T	uc001orl.1	-	21	5840	c.5668G>A	c.(5668-5670)Ggg>Agg	p.G1890R	NUMA1_uc001orj.2_Missense_Mutation_p.G72R|NUMA1_uc009ysw.1_Missense_Mutation_p.G1457R|NUMA1_uc001ork.1_Missense_Mutation_p.G754R|NUMA1_uc001orm.1_Missense_Mutation_p.G1876R	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	1890					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGGACACCCCGGCCTGGGAA	0.592			T	RARA	APL								T	71717105	C	T	71717105	3	4	141	1	0	0	0	0	1	0	0	0	10826	652	23	1	703	1	NUMA1	11	71717105	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	15336576	71717105	63289411	33	9445											
ADAMTS8	11095	broad.mit.edu	37	chr11	130281492	130281492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagcctccatctgccaCgggctgcaacatacaatggc	9	7	9	16	1	1	0	0	0	1	0	2	0	2	0	4	2	6	2	4	2	3	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr11:130281492C>T	uc001qgg.4	-	5	1928	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	ADAMTS8_uc001qgf.3_Missense_Mutation_p.V5M	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	524	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	p.V553M(1)|p.V524M(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCATCTGCCACGGGCTGCAAC	0.577													T	130281492	C	T	130281492	3	4	141	1	0	0	0	0	1	0	0	0	272	536	19	1	1115	1	ADAMTS8	11	130281492	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	58564387	130281492	4725024	34	9446											
MLL2	8085	broad.mit.edu	37	chr12	49420539	49420539	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccccgccctgggtctcAtacacctccgtggaccaaag	8	7	10	16	2	1	0	1	0	1	0	3	1	2	1	6	2	2	0	6	2	2	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:49420539A>T	uc001rta.4	-	47	15210	c.15210T>A	c.(15208-15210)taT>taA	p.Y5070*		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5070					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding	p.R5070*(1)|p.A5069V(1)		NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						CCTGGGTCTCATACACCTCCG	0.632			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	49420539	A	T	49420539	4	4	141	1	0	0	0	0	0	1	0	0	9696	224	8	5	1431	5	MLL2	12	49420539	Nonsense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08		49420539	84431356	35	9447											
HOXC13	3229	broad.mit.edu	37	chr12	54332758	54332758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtctatgaggacagcgCggcggagagcggcatcggcg	8	5	18	10	7	1	2	0	1	1	1	2	4	1	3	0	5	3	2	0	5	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:54332758C>T	uc001sei.3	+	0	183	c.68C>T	c.(67-69)gCg>gTg	p.A23V		NM_017410	NP_059106	P31276	HXC13_HUMAN	Homo sapiens homeobox C13 (HOXC13), mRNA.	23						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GAGGACAGCgcggcggagagc	0.672			T	NUP98	AML								T	54332758	C	T	54332758	3	4	141	1	0	0	0	0	1	0	0	0	7367	768	27	1	70	1	HOXC13	12	54332758	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	4912219	54332758	79519137	36	9448											
MMP19	4327	broad.mit.edu	37	chr12	56231702	56231702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggggagcccctcccaaaGggcagacactcggaacaagg	11	3	13	14	2	0	1	0	0	0	1	3	3	2	3	4	5	2	1	4	5	3	0			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:56231702G>C	uc001sib.3	-	6	1106	c.985C>G	c.(985-987)Ctt>Gtt	p.L329V	MMP19_uc001sia.3_Missense_Mutation_p.L43V|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_Missense_Mutation_p.P282R	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	329	Hemopexin-like 1.				angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CCCTCCCAAAGGGCAGACACT	0.542													C	56231702	G	C	56231702	3	2	141	1	0	0	0	0	1	0	0	0	9732	1000	35	4	553	4	MMP19	12	56231702	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1898944	56231702	77620193	37	9449											
PTPRB	5787	broad.mit.edu	37	chr12	70983775	70983775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaacgctcagaattcttCaaatttccactctcaacaat	13	12	4	12	1	4	1	3	0	2	1	6	1	5	1	1	1	2	2	1	1	5	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:70983775C>T	uc001swb.4	-	5	1395	c.1365G>A	c.(1363-1365)ttG>ttA	p.L455L	PTPRB_uc010sto.2_Silent_p.L455L|PTPRB_uc010stp.2_Intron|PTPRB_uc001swc.4_Silent_p.L673L|PTPRB_uc001swa.4_Silent_p.L673L|PTPRB_uc001swd.4_Silent_p.L672L|PTPRB_uc009zrr.2_Silent_p.L552L	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	455	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CAGAATTCTTCAAATTTCCAC	0.458											OREG0021990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70983775	C	T	70983775	2	4	141	1	0	0	0	0	0	0	0	1	12884	825	29	2		2	PTPRB	12	70983775	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	14752073	70983775	62868120	38	9450											
MYF6	4618	broad.mit.edu	37	chr12	81101567	81101567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaaatgttactctgcaGccattagaagtggcagaagg	13	8	14	6	0	1	2	0	0	1	2	1	3	1	3	1	4	3	3	1	4	6	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:81101567G>A	uc001szf.2	+	0	160	c.69G>A	c.(67-69)caG>caA	p.Q23Q		NM_002469	NP_002460	P23409	MYF6_HUMAN	Homo sapiens myogenic factor 6 (herculin) (MYF6), mRNA.	23					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TTACTCTGCAGCCATTAGAAG	0.517													A	81101567	G	A	81101567	2	1	141	1	0	0	0	0	0	0	0	1	10104	962	34	2		2	MYF6	12	81101567	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	10117792	81101567	52750328	39	9451											
AACS	65985	broad.mit.edu	37	chr12	125591804	125591804	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacccaagtgcatggtgcAttccgctggggtaggtctct	6	10	13	12	2	1	0	0	0	1	0	3	0	2	0	2	4	2	5	2	4	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr12:125591804A>C	uc001uhc.3	+	7	1111	c.905A>C	c.(904-906)cAt>cCt	p.H302P	AACS_uc009zyg.2_Non-coding_Transcript|AACS_uc001uhd.3_Missense_Mutation_p.H302P|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	302					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGCATGGTGCATTCCGCTGGG	0.607													C	125591804	A	C	125591804	3	2	141	1	0	0	0	0	1	0	0	0	9	217	8	5	935	5	AACS	12	125591804	Missense_Mutation	SNP	A	TCGA-14-1825-01A-01W-0643-08	44490237	125591804	8260091	40	9452											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281611	49281611	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttcacactcagcatcTgttatctgctgatcattcgg	8	16	6	11	1	5	1	3	1	2	0	6	1	5	1	0	1	2	3	0	1	1	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:49281611T>A	uc010acw.1	+	1	948	c.658T>A	c.(658-660)Tgt>Agt	p.C220S	CYSLTR2_uc010acx.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acy.1_Missense_Mutation_p.C220S|CYSLTR2_uc010acz.1_Missense_Mutation_p.C220S|CYSLTR2_uc010ada.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adb.1_Missense_Mutation_p.C220S|CYSLTR2_uc010adc.1_Missense_Mutation_p.C220S|CYSLTR2_uc010add.1_Missense_Mutation_p.C220S|CYSLTR2_uc001vck.2_Missense_Mutation_p.C220S|CYSLTR2_uc021rjl.1_Missense_Mutation_p.C220S	NM_020377	NP_065110	Q9NS75	CLTR2_HUMAN	Homo sapiens cysteinyl leukotriene receptor 2 (CYSLTR2), mRNA.	220					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ACTCAGCATCTGTTATCTGCT	0.478													A	49281611	T	A	49281611	3	1	141	1	0	0	0	0	1	0	0	0	4235	1580	55	5	660	5	CYSLTR2	13	49281611	Missense_Mutation	SNP	T	TCGA-14-1825-01A-01W-0643-08		49281611	65888267	41	9453											
ADPRHL1	113622	broad.mit.edu	37	chr13	114079397	114079397	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgcatcataattgtcGgggaagatggctttattttc	8	17	9	7	1	3	1	1	0	2	1	5	2	3	2	0	3	1	2	0	3	3	7			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr13:114079397G>A	uc001vtq.1	-	4	831	c.744C>T	c.(742-744)ccC>ccT	p.P248P	ADPRHL1_uc001vtp.1_Silent_p.P166P	NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	248					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			CATAATTGTCGGGGAAGATGG	0.438													A	114079397	G	A	114079397	2	1	141	1	0	0	0	0	0	0	0	1	332	1103	39	1		1	ADPRHL1	13	114079397	Silent	SNP	G	TCGA-14-1825-01A-01W-0643-08	64797786	114079397	1090481	42	9454											
AARS	16	broad.mit.edu	37	chr16	70310471	70310471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaagtaagtaacataaaGtctttcaatgggaatgccaa	17	9	8	7	0	2	0	1	0	1	0	2	1	2	1	2	1	2	2	2	1	8	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:70310471G>T	uc002eyn.1	-	3	507	c.397C>A	c.(397-399)Ctt>Att	p.L133I		NM_001605	NP_001596	P49588	SYAC_HUMAN	Homo sapiens alanyl-tRNA synthetase (AARS), mRNA.	133					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GTAACATAAAGTCTTTCAATG	0.428													T	70310471	G	T	70310471	3	4	141	1	0	0	0	0	1	0	0	0	19	1029	36	4	2581	4	AARS	16	70310471	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		70310471	20044282	43	9455											
MLYCD	23417	broad.mit.edu	37	chr16	83933176	83933176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatcgcggcctcttccacCacatcagcaagctggacggc	8	7	10	16	3	2	0	1	0	1	0	4	1	3	1	3	3	2	3	3	3	2	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr16:83933176C>G	uc002fgz.3	+	0	447	c.427C>G	c.(427-429)Cac>Gac	p.H143D		NM_012213	NP_036345	O95822	DCMC_HUMAN	Homo sapiens malonyl-CoA decarboxylase (MLYCD), nuclear gene encoding mitochondrial protein, mRNA.	143					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CCTCTTCCACCACATCAGCAA	0.731													G	83933176	C	G	83933176	3	3	141	1	0	0	0	0	1	0	0	0	9713	594	21	4	429	4	MLYCD	16	83933176	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	13622705	83933176	6421577	44	9456											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7577094G>A	uc002gim.2	-	7	1038	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R282W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R150W|TP53_uc010cnf.1_Missense_Mutation_p.R150W|TP53_uc002gii.1_Missense_Mutation_p.R150W|TP53_uc010cni.1_Missense_Mutation_p.R282W|TP53_uc010cnh.1_Missense_Mutation_p.R282W|TP53_uc002gij.2_Missense_Mutation_p.R282W|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	141	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		7577094	73618116	45	9457											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:7578263G>A	uc002gim.2	-	5	780	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_uc002gig.1_Nonsense_Mutation_p.R196*|TP53_uc002gih.3_Nonsense_Mutation_p.R196*|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Nonsense_Mutation_p.R64*|TP53_uc010cnf.1_Nonsense_Mutation_p.R64*|TP53_uc002gii.1_Nonsense_Mutation_p.R64*|TP53_uc010cni.1_Nonsense_Mutation_p.R196*|TP53_uc010cnh.1_Nonsense_Mutation_p.R196*|TP53_uc002gij.2_Nonsense_Mutation_p.R196*|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Nonsense_Mutation_p.R103*|TP53_uc002gio.2_Nonsense_Mutation_p.R64*|TP53_uc010vug.2_Nonsense_Mutation_p.R157*|DL476358_uc021tph.1_Non-coding_Transcript	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(312)|p.I195T(67)|p.I195F(18)|p.R196P(14)|p.R64*(14)|p.R103*(14)|p.I195N(12)|p.R196fs*51(12)|p.R196R(8)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.I195S(6)|p.?(5)|p.P191_E198>Q(4)|p.I195fs*52(4)|p.I195fs*14(4)|p.R196Q(3)|p.I195fs*12(2)|p.I195fs*50(2)|p.I195_G199delIRVEG(2)|p.K164_P219del(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I195M(1)|p.R196L(1)|p.P98_E105>Q(1)|p.I195L(1)|p.H193_I195>AP(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	141	1	0	0	0	0	0	1	0	0	16482	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	1169	7578263	73616947	46	9458											
PPM1D	8493	broad.mit.edu	37	chr17	58711271	58711271	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgacctcgactcactcaCaatggacctgttagaaggag	14	7	9	11	2	2	1	2	0	0	1	3	5	2	3	2	2	1	1	2	2	4	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr17:58711271C>T	uc002iyt.2	+	2	991	c.759C>T	c.(757-759)caC>caT	p.H253H	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	253	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GACTCACTCACAATGGACCTG	0.363													T	58711271	C	T	58711271	2	4	141	1	0	0	0	0	0	0	0	1	12419	477	17	2		2	PPM1D	17	58711271	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	51133008	58711271	22483939	47	9459											
EMILIN2	84034	broad.mit.edu	37	chr18	2847912	2847912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctggaaccagatgccCtgtccgtcggcgctggtgta	5	10	14	12	3	0	1	0	0	0	1	2	2	1	2	4	3	3	2	4	3	2	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:2847912C>T	uc002kln.3	+	1	399	c.240C>T	c.(238-240)ccC>ccT	p.P80P		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	80	EMI.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		ACCAGATGCCCTGTCCGTCGG	0.662													T	2847912	C	T	2847912	2	4	141	1	0	0	0	0	0	0	0	1	5135	668	24	2		2	EMILIN2	18	2847912	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08		2847912	75229336	48	9460											
TCEB3C	162699	broad.mit.edu	37	chr18	44554653	44554653	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttggcagcctgttttcGggttttgtccgcgggcgccg	1	15	14	11	5	1	0	0	0	1	0	3	0	2	0	3	3	1	3	3	3	0	6			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr18:44554653G>A	uc010xdb.2	-	0	1797	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCCTGTTTTCGGGTTTTGTcc	0.652													A	44554653	G	A	44554653	4	1	141	1	0	0	0	0	0	1	0	0	15783	1124	39	1	1726	1	TCEB3C	18	44554653	Nonsense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08	41706741	44554653	33522595	49	9461											
TRPC4AP	26133	broad.mit.edu	37	chr20	33591328	33591328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttgctgtgctccatcCgctgcagcagccgcaggtac	6	10	10	15	2	1	0	0	0	1	0	3	0	3	0	3	1	6	7	3	1	1	3	rs146813768		TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:33591328C>T	uc002xbk.3	-	17	2175	c.2141G>A	c.(2140-2142)cGg>cAg	p.R714Q	TRPC4AP_uc002xbj.3_Non-coding_Transcript|TRPC4AP_uc010zuq.2_Missense_Mutation_p.R305Q|TRPC4AP_uc010zur.2_Missense_Mutation_p.R675Q|TRPC4AP_uc002xbl.3_Missense_Mutation_p.R706Q	NM_015638	NP_056453	Q8TEL6	TP4AP_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 associated protein (TRPC4AP), transcript variant 1, mRNA.	714					protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GTGCTCCATCCGCTGCAGCAG	0.612													T	33591328	C	T	33591328	3	4	141	1	0	0	0	0	1	0	0	0	16682	652	23	1	260	1	TRPC4AP	20	33591328	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08		33591328	29434192	50	9462											
TSHZ2	128553	broad.mit.edu	37	chr20	51870234	51870234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgtccaatcaggatgcCgagaacgagtctctgctgag	10	10	11	10	2	2	2	1	1	1	1	4	5	3	3	2	1	3	1	2	1	2	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:51870234C>T	uc002xwo.3	+	1	1124	c.237C>T	c.(235-237)gcC>gcT	p.A79A	TSHZ2_uc021wex.1_Silent_p.A76A	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	79					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D78N(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ATCAGGATGCCGAGAACGAGT	0.537													T	51870234	C	T	51870234	2	4	141	1	0	0	0	0	0	0	0	1	16725	639	23	1		1	TSHZ2	20	51870234	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	18278906	51870234	11155286	51	9463											
MC3R	4159	broad.mit.edu	37	chr20	54824418	54824418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctgggtctgctgcggCgtctgtggcgtggtgttcat	2	13	16	10	3	4	0	1	0	3	0	4	0	4	0	1	4	2	2	1	4	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr20:54824418C>T	uc002xxb.2	+	0	631	c.519C>T	c.(517-519)ggC>ggT	p.G173G		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	210					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCTGCTGCGGCGTCTGTGGCG	0.562													T	54824418	C	T	54824418	2	4	141	1	0	0	0	0	0	0	0	1	9440	755	27	1		1	MC3R	20	54824418	Silent	SNP	C	TCGA-14-1825-01A-01W-0643-08	2954184	54824418	8201102	52	9464											
BAGE	85319	broad.mit.edu	37	chr21	11058294	11058294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcacagcatttgatagtGgctccaaagtgcttacaaaa	13	12	7	9	0	2	1	1	1	1	0	3	1	3	1	1	1	3	3	1	1	5	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr21:11058294G>A	uc002yiu.1	-	2					BAGE_uc002yit.1_Missense_Mutation_p.P49L|BAGE_uc002yiv.1_3'UTR|BAGE_uc002yiw.1_Non-coding_Transcript	NM_182484	NP_872290	Q13072	BAGE1_HUMAN	Homo sapiens B melanoma antigen family, member 5 (BAGE5), mRNA.							extracellular region								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATTTGATAGTGGCTCCAAAGT	0.403													A	11058294	G	A	11058294	3	1	141	1	0	0	0	0	1	0	0	0	1296	1348	47	2		2	BAGE	21	11058294	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		11058294	37071601	53	9465											
ACR	49	broad.mit.edu	37	chr22	51183292	51183292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctccacctcccaccactcGaccgcccccgattcgacccc	6	5	4	26	4	0	0	0	0	0	0	4	3	2	0	10	0	0	0	10	0	0	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chr22:51183292G>A	uc003bnh.4	+	4	935	c.923G>A	c.(922-924)cGa>cAa	p.R308Q		NM_001097	NP_001088	P10323	ACRO_HUMAN	Homo sapiens acrosin (ACR), mRNA.	308					acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		CCCACCACTCGACCGCCCCCG	0.602													A	51183292	G	A	51183292	3	1	141	1	0	0	0	0	1	0	0	0	169	1058	37	1	941	1	ACR	22	51183292	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		51183292	121274	54	9466											
CFP	5199	broad.mit.edu	37	chrX	47486279	47486279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacgtccgttgttccatgGtctggcccaggccacaggtc	5	10	12	14	2	1	0	0	0	1	0	4	0	3	0	4	4	1	3	4	4	0	2			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:47486279G>T	uc004dih.3	-	6	1075	c.833C>A	c.(832-834)aCc>aAc	p.T278N	CFP_uc004dig.4_Missense_Mutation_p.T278N|CFP_uc004dii.1_Missense_Mutation_p.T214N|CFP_uc010nhu.2_Missense_Mutation_p.T278N	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	278	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.Q277H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGTTCCATGGTCTGGCCCAG	0.662													T	47486279	G	T	47486279	3	4	141	1	0	0	0	0	1	0	0	0	3323	1261	44	4	592	4	CFP	23	47486279	Missense_Mutation	SNP	G	TCGA-14-1825-01A-01W-0643-08		47486279	107784281	55	9467											
SLC35A2	7355	broad.mit.edu	37	chrX	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-																															agacacctgcgaagccggagGagagacaggaggccacgacg																										TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:48762551_48762552delGA	uc011mmm.1	-	4	1040_1041	c.718_719delTC	c.(718-720)tccfs	p.S240fs	SLC35A2_uc004dlo.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mml.1_Frame_Shift_Del_p.S225fs|SLC35A2_uc004dlp.1_Frame_Shift_Del_p.S212fs|SLC35A2_uc011mmn.1_Frame_Shift_Del_p.S151fs|SLC35A2_uc004dlq.3_Intron|SLC35A2_uc004dlr.1_Intron	NM_001042498	NP_001035963	P78381	S35A2_HUMAN	Homo sapiens solute carrier family 35 (UDP-galactose transporter), member A2 (SLC35A2), transcript variant 3, mRNA.	212					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649													-	48762552	GA	-	48762551	7	5	141	1	0	1	0	1	0	0	0	0	14665	1174	41	0	719	0	SLC35A2	23	48762551	Frame_Shift_Del	DEL	GA	TCGA-14-1825-01A-01W-0643-08	1276272	48762551	106508009	56	9468											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685588	125685588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttctgctggtcctggCgcagatccaggaaagagacg	9	8	15	9	2	1	2	0	0	1	2	3	5	3	4	2	4	1	3	2	4	1	1			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:125685588C>T	uc022cds.1	-	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597													T	125685588	C	T	125685588	3	4	141	1	0	0	0	0	1	0	0	0	4298	768	27	1	391	1	DCAF12L1	23	125685588	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	76923037	125685588	29584972	57	9469											
MAGEA10	4109	broad.mit.edu	37	chrX	151303380	151303380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctcaggggtgcagtagCcctctatgaagactatgctt	8	11	10	12	0	2	2	1	1	1	1	3	2	3	2	3	2	3	3	3	2	4	4			TCGA-14-1825-01A-01W-0643-08	TCGA-14-1825-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d7cb8b-995c-419b-a366-aadb156879bc	3c9a8b63-5c94-4a4a-a37b-4cda6a3c2e54	g.chrX:151303380C>T	uc022cgz.1	-	0	713	c.713G>A	c.(712-714)gGc>gAc	p.G238D	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Missense_Mutation_p.G238D|MAGEA10_uc004ffm.2_Missense_Mutation_p.G238D|MAGEA10_uc004ffl.3_Missense_Mutation_p.G238D	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	238	MAGE.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGCAGTAGCCCTCTATGAA	0.527													T	151303380	C	T	151303380	3	4	141	1	0	0	0	0	1	0	0	0	9235	739	26	2	400	2	MAGEA10	23	151303380	Missense_Mutation	SNP	C	TCGA-14-1825-01A-01W-0643-08	25617792	151303380	3967180	58	9470											
EXOSC10	5394	broad.mit.edu	37	chr1	11151619	11151619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggacaggctgttgattCttgtttacacctgaggcttc	7	13	13	8	0	1	2	0	2	1	0	2	4	1	4	1	4	1	4	1	4	1	6	rs146190133		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11151619C>G	uc001asa.3	-	3	458	c.408G>C	c.(406-408)aaG>aaC	p.K136N	EXOSC10_uc001asb.3_Missense_Mutation_p.K136N|EXOSC10_uc009vmy.1_Missense_Mutation_p.K136N	NM_001001998	NP_001001998	Q01780	EXOSX_HUMAN	Homo sapiens exosome component 10 (EXOSC10), transcript variant 1, mRNA.	136					CUT catabolic process|histone mRNA catabolic process|maturation of 5.8S rRNA|nuclear polyadenylation-dependent rRNA catabolic process|nuclear retention of unspliced pre-mRNA at the site of transcription|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasm|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5' exonuclease activity|exoribonuclease activity|identical protein binding|nucleotide binding|protein serine/threonine kinase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCTGTTGATTCTTGTTTACAC	0.458													G	11151619	C	G	11151619	3	3	142	1	0	0	0	0	1	0	0	0	5355	912	32	4	2337	4	EXOSC10	1	11151619	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		11151619	238099002	1	9471											
UBIAD1	29914	broad.mit.edu	37	chr1	11334002	11334002	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccggttcggagtcttcctCtacacgttgggctgcgtctg	3	13	13	12	4	3	0	0	0	3	0	6	1	5	1	2	3	2	3	2	3	1	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:11334002C>G	uc001asg.3	+	0	748	c.414C>G	c.(412-414)ctC>ctG	p.L138L		NM_013319	NP_037451	Q9Y5Z9	UBIA1_HUMAN	Homo sapiens UbiA prenyltransferase domain containing 1 (UBIAD1), mRNA.	138					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		GAGTCTTCCTCTACACGTTGG	0.537													G	11334002	C	G	11334002	2	3	142	1	0	0	0	0	0	0	0	1	16987	900	32	4		4	UBIAD1	1	11334002	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	182383	11334002	237916619	2	9472											
TRIM62	55223	broad.mit.edu	37	chr1	33646782	33646782	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgcggcgcggcgcgcgttGaggatggcgtccagcgggaa	5	4	20	12	10	0	1	0	1	0	0	1	3	1	3	1	5	1	1	1	5	1	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:33646782G>C	uc001bxb.3	-	0	890	c.252C>G	c.(250-252)ctC>ctG	p.L84L		NM_018207	NP_060677	Q9BVG3	TRI62_HUMAN	Homo sapiens tripartite motif containing 62 (TRIM62), mRNA.	84						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCGCGCGTTGAGGATGGCGT	0.701													C	33646782	G	C	33646782	2	2	142	1	0	0	0	0	0	0	0	1	16638	1277	45	4		4	TRIM62	1	33646782	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	22312780	33646782	215603839	3	9473											
TCHH	7062	broad.mit.edu	37	chr1	152080828	152080828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagctgttcgtcttcgCggaattttctgtcgcgctcc	4	13	12	12	5	2	0	0	0	2	0	6	2	3	2	1	2	2	4	1	2	1	4	rs71585886		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:152080828C>T	uc009wne.1	-	2	5137	c.4865G>A	c.(4864-4866)cGc>cAc	p.R1622H	TCHH_uc001ezp.2_Missense_Mutation_p.R1622H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1622	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCGTCTTCGCGGAATTTTCT	0.602													T	152080828	C	T	152080828	3	4	142	1	0	0	0	0	1	0	0	0	15800	768	27	1	970	1	TCHH	1	152080828	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	118434046	152080828	97169793	4	9474											
OR10J3	441911	broad.mit.edu	37	chr1	159283794	159283794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggagatgatgaggacaTaggagataaagaccaggccc	14	6	15	6	0	0	5	0	2	0	3	0	8	0	6	2	5	0	0	2	5	3	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:159283794T>A	uc010piu.2	-	0	656	c.656A>T	c.(655-657)tAt>tTt	p.Y219F		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATGAGGACATAGGAGATAAA	0.502													A	159283794	T	A	159283794	3	1	142	1	0	0	0	0	1	0	0	0	10987	1406	49	5	335	5	OR10J3	1	159283794	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08	7202966	159283794	89966827	5	9475											
SLAMF6	114836	broad.mit.edu	37	chr1	160456502	160456502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctttcagcaacttacaCgacattgtcaagggcagttg	11	10	10	10	1	2	0	2	0	0	0	2	1	2	0	1	2	3	3	1	2	3	4	rs151001421		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:160456502C>T	uc001fwe.2	-	7	1064	c.994G>A	c.(994-996)Gtg>Atg	p.V332M	SLAMF6_uc010pji.2_Missense_Mutation_p.V221M|SLAMF6_uc001fwd.2_Missense_Mutation_p.V331M|SLAMF6_uc010pjh.2_Missense_Mutation_p.V282M	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	332						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GCAACTTACACGACATTGTCA	0.483													T	160456502	C	T	160456502	3	4	142	1	0	0	0	0	1	0	0	0	14462	536	19	1	8	1	SLAMF6	1	160456502	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	1172708	160456502	88794119	6	9476											
KLHDC8A	55220	broad.mit.edu	37	chr1	205312607	205312607	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcagtccatggggacgccGttgtcgtcacatcccccgat	8	8	11	14	4	1	0	1	0	0	0	4	2	3	1	4	2	1	2	4	2	1	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:205312607G>A	uc001hcf.1	-	1	694	c.126C>T	c.(124-126)aaC>aaT	p.N42N	KLHDC8A_uc010prg.1_Intron|KLHDC8A_uc001hcg.1_Silent_p.N42N	NM_018203	NP_060673	Q8IYD2	KLD8A_HUMAN	Homo sapiens kelch domain containing 8A (KLHDC8A), mRNA.	42								p.D41H(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGGGGACGCCGTTGTCGTCAC	0.716													A	205312607	G	A	205312607	2	1	142	1	0	0	0	0	0	0	0	1	8420	1136	40	1		1	KLHDC8A	1	205312607	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	44856105	205312607	43938014	7	9477											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220340949	220340949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcatctctttcttcattagCcagttttaatacttcagggc	8	17	6	10	0	4	0	2	0	2	0	5	0	4	0	1	1	3	2	1	1	3	7			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:220340949C>A	uc010puk.1	-	24	3039	c.2875G>T	c.(2875-2877)Gct>Tct	p.A959S	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A959S|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A539S	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	959					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TCTTCATTAGCCAGTTTTAAT	0.398													A	220340949	C	A	220340949	3	1	142	1	0	0	0	0	1	0	0	0	13024	739	26	4	1350	4	RAB3GAP2	1	220340949	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	15028342	220340949	28909672	8	9478											
HHIPL2	79802	broad.mit.edu	37	chr1	222717502	222717502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctgggtgttttcggcgtcGtagaggtgggctgcgtaggg	3	12	20	6	4	1	1	0	0	1	1	3	1	1	1	0	5	1	4	0	5	2	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:222717502G>A	uc001hnh.1	-	1	409	c.351C>T	c.(349-351)taC>taT	p.Y117Y		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	117					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TTTCGGCGTCGTAGAGGTGGG	0.567													A	222717502	G	A	222717502	2	1	142	1	0	0	0	0	0	0	0	1	7149	1140	40	1		1	HHIPL2	1	222717502	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	2376553	222717502	26533119	9	9479											
NUP133	55746	broad.mit.edu	37	chr1	229606471	229606471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcggctgacagcttttcGgcatgctcacagagcaacag	10	8	12	11	2	1	2	1	1	0	1	2	2	1	2	0	3	4	5	0	3	1	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr1:229606471G>A	uc001htn.3	-	14	2024	c.1932C>T	c.(1930-1932)gcC>gcT	p.A644A		NM_018230	NP_060700	Q8WUM0	NU133_HUMAN	Homo sapiens nucleoporin 133kDa (NUP133), mRNA.	644					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				ACAGCTTTTCGGCATGCTCAC	0.493													A	229606471	G	A	229606471	2	1	142	1	0	0	0	0	0	0	0	1	10830	1103	39	1		1	NUP133	1	229606471	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	6888969	229606471	19644150	10	9480											
SPEG	10290	broad.mit.edu	37	chr2	220353375	220353375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaccagctcctgtaccGtggctgtggcccgtgagcct	5	9	12	15	2	1	1	1	1	0	0	2	1	2	1	5	2	3	4	5	2	1	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr2:220353375G>A	uc010fwg.3	+	32	8014	c.8014G>A	c.(8014-8016)Gtg>Atg	p.V2672M		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	2672	Ig-like 9.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity	p.T2671T(1)		breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CTCCTGTACCGTGGCTGTGGC	0.672													A	220353375	G	A	220353375	3	1	142	1	0	0	0	0	1	0	0	0	15132	1145	40	1	8156	1	SPEG	2	220353375	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		220353375	22845998	11	9481											
DPPA4	55211	broad.mit.edu	37	chr3	109046838	109046838	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctttttcctgatattctaTtcccattggaggctttttat	6	20	6	9	0	1	1	0	1	1	0	3	2	3	2	3	2	0	1	3	2	3	10			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:109046838T>G	uc003dxq.4	-	6	967	c.912A>C	c.(910-912)gaA>gaC	p.E304D	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	304						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TGATATTCTATTCCCATTGGA	0.368													G	109046838	T	G	109046838	3	3	142	1	0	0	0	0	1	0	0	0	4775	1490	52	5	6	5	DPPA4	3	109046838	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08		109046838	88975592	12	9482											
HCLS1	3059	broad.mit.edu	37	chr3	121356079	121356079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccttctccaccccgtacCggccaccaaagccacgagag	10	6	7	18	3	1	1	0	0	1	1	3	2	2	1	8	1	2	1	8	1	3	3	rs142478875	by1000genomes	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr3:121356079C>T	uc003eeh.4	-	6	604	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	HCLS1_uc011bjj.2_Intron|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	160					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CACCCCGTACCGGCCACCAAA	0.557													T	121356079	C	T	121356079	3	4	142	1	0	0	0	0	1	0	0	0	7050	652	23	1	1013	1	HCLS1	3	121356079	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	12309241	121356079	76666351	13	9483											
SLIT2	9353	broad.mit.edu	37	chr4	20544133	20544133	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaggaaatgatgacaatagTtgctccccactttctcgctg	10	13	8	10	1	1	2	0	2	1	0	3	3	2	3	2	1	1	3	2	1	4	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:20544133T>C	uc003gpr.1	+	20	2364	c.2160T>C	c.(2158-2160)agT>agC	p.S720S	SLIT2_uc003gps.1_Silent_p.S712S	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	720	LRRNT 4.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ATGACAATAGTTGCTCCCCAC	0.413													C	20544133	T	C	20544133	2	2	142	1	0	0	0	0	0	0	0	1	14834	1722	60	3		3	SLIT2	4	20544133	Silent	SNP	T	TCGA-14-1829-01A-01W-0643-08		20544133	170610143	14	9484											
PKD2	5311	broad.mit.edu	37	chr4	88973158	88973158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagctgtcagtggtagctAtaggaattaacatatacaga	14	12	9	6	0	2	1	2	0	0	1	2	2	2	2	0	2	4	3	0	2	7	7			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr4:88973158A>G	uc003hre.3	+	6	1651	c.1564A>G	c.(1564-1566)Ata>Gta	p.I522V	PKD2_uc011cdf.2_5'UTR|PKD2_uc011cdg.2_5'UTR|PKD2_uc011cdh.2_5'UTR	NM_000297	NP_000288	Q13563	PKD2_HUMAN	Homo sapiens polycystic kidney disease 2 (autosomal dominant) (PKD2), mRNA.	522						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		AGTGGTAGCTATAGGAATTAA	0.323													G	88973158	A	G	88973158	3	3	142	1	0	0	0	0	1	0	0	0	12043	449	16	3	1590	3	PKD2	4	88973158	Missense_Mutation	SNP	A	TCGA-14-1829-01A-01W-0643-08	68429025	88973158	102181118	15	9485											
GPR98	84059	broad.mit.edu	37	chr5	90055389	90055389	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctccatttggagtatttgGatttgaagaaaagactgtaa	13	15	9	4	0	1	3	0	1	1	2	2	5	1	5	1	2	0	2	1	2	5	6			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:90055389G>T	uc003kju.3	+	57	12200	c.12104G>T	c.(12103-12105)gGa>gTa	p.G4035V	GPR98_uc003kjt.3_Missense_Mutation_p.G1741V|GPR98_uc003kjv.3_Missense_Mutation_p.G1635V	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	4035					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTATTTGGATTTGAAGAA	0.368													T	90055389	G	T	90055389	3	4	142	1	0	0	0	0	1	0	0	0	6776	1174	41	4	12334	4	GPR98	5	90055389	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		90055389	90859871	16	9486											
ETF1	2107	broad.mit.edu	37	chr5	137846888	137846888	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttcatcaaagtatcgTcctacgattagggatcagtc	11	13	8	9	2	3	1	3	1	0	0	6	3	4	2	1	1	1	1	1	1	4	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:137846888T>C	uc003ldc.4	-	8	1028	c.863_splice	c.e8-1	p.G288_splice	ETF1_uc011cyv.2_Splice_Site_p.G274_splice|ETF1_uc010jex.3_Splice_Site|ETF1_uc003ldd.4_Splice_Site_p.G255_splice	NM_004730	NP_004721	P62495	ERF1_HUMAN	Homo sapiens eukaryotic translation termination factor 1 (ETF1), transcript variant 1, mRNA.	288					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation|regulation of translational termination	cytoplasm	protein binding|ribosome binding|translation release factor activity, codon specific			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAAAGTATCGTCCTACGATTA	0.368													C	137846888	T	C	137846888	2	2	142	1	0	0	0	0	0	0	0	1	5309	1681	58	3		3	ETF1	5	137846888	Silent	SNP	T	TCGA-14-1829-01A-01W-0643-08	47791499	137846888	43068372	17	9487											
PCDHB6	56130	broad.mit.edu	37	chr5	140530986	140530986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaacaggttatttgttcaaTagagaacaatctcccctttc	12	13	5	11	0	2	1	1	0	1	1	4	2	2	1	3	1	2	2	3	1	6	5	rs142117819	by1000genomes	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140530986T>C	uc003lir.3	+	0	1148	c.1148T>C	c.(1147-1149)aTa>aCa	p.I383T		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	383	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTGTTCAATAGAGAACAAT	0.463													C	140530986	T	C	140530986	3	2	142	1	0	0	0	0	1	0	0	0	11622	1406	49	3	1150	3	PCDHB6	5	140530986	Missense_Mutation	SNP	T	TCGA-14-1829-01A-01W-0643-08	2684098	140530986	40384274	18	9488											
PCDHB7	56129	broad.mit.edu	37	chr5	140554290	140554290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcacaatggcgaggtgcGtaccgccaggctgctgagcg	7	5	17	12	5	0	1	0	1	0	0	0	2	0	1	2	4	4	4	2	4	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr5:140554290G>A	uc003lit.3	+	0	2048	c.1874G>A	c.(1873-1875)cGt>cAt	p.R625H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	625	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGTACCGCCAGG	0.697													A	140554290	G	A	140554290	3	1	142	1	0	0	0	0	1	0	0	0	11623	1145	40	1	1876	1	PCDHB7	5	140554290	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	23304	140554290	40360970	19	9489											
TREML1	340205	broad.mit.edu	37	chr6	41121804	41121804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgcctgcagcacctcaGggaggctgccaactatgccc	7	6	13	15	1	1	0	1	0	0	0	1	1	1	1	4	3	6	3	4	3	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:41121804G>A	uc011duc.2	-	1	112	c.68C>T	c.(67-69)cCt>cTt	p.P23L	TREML1_uc003opx.3_Missense_Mutation_p.P23L|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	23	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCACCTCAGGGAGGCTGCC	0.607													A	41121804	G	A	41121804	3	1	142	1	0	0	0	0	1	0	0	0	16573	1000	35	2	885	2	TREML1	6	41121804	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		41121804	129993263	20	9490											
GFRAL	389400	broad.mit.edu	37	chr6	55196594	55196594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcaatgcttacgtgatgCaaatggatgtaaacatgctt	14	11	10	6	1	0	2	0	1	0	1	0	3	0	3	0	1	6	5	0	1	5	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:55196594C>T	uc003pcm.1	+	1	190	c.104C>T	c.(103-105)gCa>gTa	p.A35V		NM_207410	NP_997293	Q6UXV0	GFRAL_HUMAN	Homo sapiens GDNF family receptor alpha like (GFRAL), mRNA.	35						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TTACGTGATGCAAATGGATGT	0.338													T	55196594	C	T	55196594	3	4	142	1	0	0	0	0	1	0	0	0	6407	710	25	2	110	2	GFRAL	6	55196594	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	14074790	55196594	115918473	21	9491											
BCLAF1	9774	broad.mit.edu	37	chr6	136599627	136599627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctagaagatctatatgacCggcgagatctgcttctggat	11	11	10	9	2	3	4	0	1	3	3	3	6	3	5	2	2	1	1	2	2	4	4	rs149799182		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr6:136599627C>T	uc003qgx.1	-	3	645	c.392G>A	c.(391-393)cGg>cAg	p.R131Q	BCLAF1_uc003qgy.1_Missense_Mutation_p.R129Q|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R129Q|BCLAF1_uc003qgw.1_Missense_Mutation_p.R131Q	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	131					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R131P(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TCTATATGACCGGCGAGATCT	0.448													T	136599627	C	T	136599627	3	4	142	1	0	0	0	0	1	0	0	0	1388	652	23	1	2410	1	BCLAF1	6	136599627	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	81403033	136599627	34515440	22	9492											
USP42	84132	broad.mit.edu	37	chr7	6183728	6183728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcaaggtgtaaaaagatGgttccagcttcaaagaggtt	13	12	11	5	0	2	2	2	0	0	2	3	2	3	2	1	3	1	5	1	3	5	5			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:6183728G>A	uc011jwo.1	+	8	1014	c.891G>A	c.(889-891)atG>atA	p.M297I	USP42_uc011jwn.1_Missense_Mutation_p.M142I|USP42_uc010kth.1_Missense_Mutation_p.M230I|USP42_uc011jwp.2_Missense_Mutation_p.M297I|USP42_uc011jwq.2_Missense_Mutation_p.M104I|USP42_uc011jwr.1_Missense_Mutation_p.M142I	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	297					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		GTAAAAAGATGGTTCCAGCTT	0.333													A	6183728	G	A	6183728	3	1	142	1	0	0	0	0	1	0	0	0	17175	1348	47	2	921	2	USP42	7	6183728	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		6183728	152954935	23	9493											
URGCP	55665	broad.mit.edu	37	chr7	43917037	43917037	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctccttcaggagccctgtGacccagcggacgggcatgct	7	7	13	14	2	1	1	1	1	0	0	2	3	2	3	3	3	4	3	3	3	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917037G>C	uc003tiw.3	-	5	2082	c.2025C>G	c.(2023-2025)gtC>gtG	p.V675V	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Silent_p.V632V|URGCP_uc003tiv.3_Silent_p.V600V|URGCP_uc003tix.3_Silent_p.V666V|URGCP_uc003tiy.3_Silent_p.V632V|URGCP_uc003tiz.3_Silent_p.V632V|URGCP_uc011kbj.2_Silent_p.V632V	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	675					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGAGCCCTGTGACCCAGCGGA	0.642													C	43917037	G	C	43917037	2	2	142	1	0	0	0	0	0	0	0	1	17128	1277	45	4		4	URGCP	7	43917037	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	37733309	43917037	115221626	24	9494			1	28		4	4	1732	G		6.585676e-09
URGCP	55665	broad.mit.edu	37	chr7	43917123	43917123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctccgaggccaagcctgGgaagtgggcaaaacgcctct	10	5	13	13	2	1	0	0	0	1	0	2	2	2	1	4	3	3	2	4	3	4	0			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43917123G>T	uc003tiw.3	-	5	1996	c.1939C>A	c.(1939-1941)Cca>Aca	p.P647T	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.P604T|URGCP_uc003tiv.3_Missense_Mutation_p.P572T|URGCP_uc003tix.3_Missense_Mutation_p.P638T|URGCP_uc003tiy.3_Missense_Mutation_p.P604T|URGCP_uc003tiz.3_Missense_Mutation_p.P604T|URGCP_uc011kbj.2_Missense_Mutation_p.P604T	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	647					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCAAGCCTGGGAAGTGGGCA	0.622													T	43917123	G	T	43917123	3	4	142	1	0	0	0	0	1	0	0	0	17128	1232	43	4	860	4	URGCP	7	43917123	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	86	43917123	115221540	25	9495			1	28		4	4	1732	G		6.585676e-09
URGCP	55665	broad.mit.edu	37	chr7	43918034	43918034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttaaactgcagccagtgaGacccgatgtcacctctcagg	10	8	10	13	1	2	1	2	1	1	1	3	3	2	1	3	1	3	2	3	1	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918034G>C	uc003tiw.3	-	5	1085	c.1028C>G	c.(1027-1029)tCt>tGt	p.S343C	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.S300C|URGCP_uc003tiv.3_Missense_Mutation_p.S268C|URGCP_uc003tix.3_Missense_Mutation_p.S334C|URGCP_uc003tiy.3_Missense_Mutation_p.S300C|URGCP_uc003tiz.3_Missense_Mutation_p.S300C|URGCP_uc011kbj.2_Missense_Mutation_p.S300C	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	343					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAGCCAGTGAGACCCGATGTC	0.458													C	43918034	G	C	43918034	3	2	142	1	0	0	0	0	1	0	0	0	17128	942	33	4	1771	4	URGCP	7	43918034	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	911	43918034	115220629	26	9496			1	28		4	4	1732	G		6.585676e-09
URGCP	55665	broad.mit.edu	37	chr7	43918768	43918768	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttcatactgtcaaaactGatctgcagagagtcctggag	11	12	9	9	0	4	2	2	1	2	1	5	4	5	3	1	1	3	1	1	1	3	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:43918768G>C	uc003tiw.3	-	5	351	c.294C>G	c.(292-294)atC>atG	p.I98M	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.I55M|URGCP_uc003tiv.3_Missense_Mutation_p.I23M|URGCP_uc003tix.3_Missense_Mutation_p.I89M|URGCP_uc003tiy.3_Missense_Mutation_p.I55M|URGCP_uc003tiz.3_Missense_Mutation_p.I55M|URGCP_uc011kbj.2_Missense_Mutation_p.I55M	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	98					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGTCAAAACTGATCTGCAGAG	0.507													C	43918768	G	C	43918768	3	2	142	1	0	0	0	0	1	0	0	0	17128	1280	45	4	2505	4	URGCP	7	43918768	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	734	43918768	115219895	27	9497			1	28		4	4	1732	G		6.585676e-09
EGFR	1956	broad.mit.edu	37	chr7	55224307	55224307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaacacttcaaaaactgcaCctccatcagtggcgatctcc	13	9	5	14	1	3	0	2	0	1	0	5	1	4	0	3	1	3	1	3	1	4	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:55224307C>T	uc003tqk.3	+	8	1334	c.1088C>T	c.(1087-1089)aCc>aTc	p.T363I	EGFR_uc003tqh.3_Missense_Mutation_p.T363I|EGFR_uc003tqi.3_Missense_Mutation_p.T363I|EGFR_uc003tqj.3_Missense_Mutation_p.T363I|EGFR_uc022adm.1_Missense_Mutation_p.T363I|EGFR_uc010kzg.2_Missense_Mutation_p.T318I|EGFR_uc022adn.1_Missense_Mutation_p.T318I|EGFR_uc011kco.2_Missense_Mutation_p.T310I|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	363					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAAACTGCACCTCCATCAGT	0.413		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55224307	C	T	55224307	3	4	142	1	0	0	0	0	1	0	0	0	5006	507	18	2	1122	2	EGFR	7	55224307	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	11305539	55224307	103914356	28	9498											
NCF1	653361	broad.mit.edu	37	chr7	74193497	74193497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaggatcatcccccacCtcccaggtgagcacggggct	10	5	11	15	1	1	2	1	1	0	1	3	3	3	3	4	4	2	2	4	4	1	0			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:74193497C>T	uc003ubb.3	+	2	293	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	NCF1_uc010lbs.1_Missense_Mutation_p.L75F|NCF1_uc011kfh.1_Intron	NM_000265	NP_000256	P14598	NCF1_HUMAN	Homo sapiens neutrophil cytosolic factor 1 (NCF1), mRNA.	75	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CATCCCCCACCTCCCAGGTGA	0.552													T	74193497	C	T	74193497	3	4	142	1	0	0	0	0	1	0	0	0	10292	681	24	2	233	2	NCF1	7	74193497	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	18969190	74193497	84945166	29	9499											
TRIM4	89122	broad.mit.edu	37	chr7	99516656	99516656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctctcgaaggcctcgtcGatgggtgccatggcgtgagt	6	10	15	10	4	1	1	0	1	1	0	4	3	1	1	2	3	2	1	2	3	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:99516656G>A	uc003usd.3	-	0	568	c.369C>T	c.(367-369)atC>atT	p.I123I	TRIM4_uc003use.3_Silent_p.I123I|TRIM4_uc011kjc.2_5'UTR|TRIM4_uc003usf.3_Silent_p.I123I	NM_033017	NP_148977	Q9C037	TRIM4_HUMAN	Homo sapiens tripartite motif containing 4 (TRIM4), transcript variant alpha, mRNA.	123					protein trimerization	cytoplasm|plasma membrane	zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				AGGCCTCGTCGATGGGTGCCA	0.612													A	99516656	G	A	99516656	2	1	142	1	0	0	0	0	0	0	0	1	16615	1048	37	1		1	TRIM4	7	99516656	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08	25323159	99516656	59622007	30	9500											
LHFPL3	375612	broad.mit.edu	37	chr7	103969236	103969237	+	In_Frame_Ins	INS	-	-	GCC																															ggagggggagaatgcccggaINSgccgccgccgctgccgccgc																										TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:103969236_103969237insGCC	uc003vce.3	+	0	133_134	c.9_10insGCC	c.(7-12)insGCC	p.14_15insA	LHFPL3_uc003vcf.3_In_Frame_Ins_p.14_15insA|JA682610_uc022ajt.1_5'Flank	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	0						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						gAATGCCCGGAgccgccgccgc	0.728													GCC	103969237	-	GCC	103969236	7	5	142	1	0	1	1	0	0	0	0	0	8826	291	11	0	11	0	LHFPL3	7	103969236	In_Frame_Ins	INS	-	TCGA-14-1829-01A-01W-0643-08	4452580	103969236	55169427	31	9501											
PIK3CG	5294	broad.mit.edu	37	chr7	106508126	106508126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatggagctcatccccatCgagttcgtgctgcccaccag	7	9	9	16	2	1	0	1	0	0	0	5	2	3	1	5	1	3	3	5	1	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:106508126C>T	uc003vdv.4	+	1	205	c.120C>T	c.(118-120)atC>atT	p.I40I	PIK3CG_uc003vdu.3_Silent_p.I40I|PIK3CG_uc003vdw.3_Silent_p.I40I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	40					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCATCCCCATCGAGTTCGTGC	0.662													T	106508126	C	T	106508126	2	4	142	1	0	0	0	0	0	0	0	1	11993	874	31	1		1	PIK3CG	7	106508126	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	2538890	106508126	52630537	32	9502											
C7orf66	154907	broad.mit.edu	37	chr7	108524126	108524126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttcttgtggacaatccGtagatatgcacctttcactt	8	16	8	9	1	2	1	1	0	1	1	3	2	3	2	2	2	1	3	2	2	3	6	rs143724624		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:108524126G>A	uc003vfo.3	-	1	334	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	96						integral to membrane		p.R96Q(1)		breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						TGGACAATCCGTAGATATGCA	0.348													A	108524126	G	A	108524126	3	1	142	1	0	0	0	0	1	0	0	0	2436	1144	40	1	65	1	C7orf66	7	108524126	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	2016000	108524126	50614537	33	9503											
GPR37	2861	broad.mit.edu	37	chr7	124387325	124387325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttcgtagtacatctgtaCgttggtggcagcacggaagc	9	11	12	9	3	1	0	0	0	1	0	2	1	1	1	0	3	4	6	0	3	4	5			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:124387325C>T	uc003vli.3	-	1	1747	c.1096G>A	c.(1096-1098)Gta>Ata	p.V366I		NM_005302	NP_005293	O15354	GPR37_HUMAN	Homo sapiens G protein-coupled receptor 37 (endothelin receptor type B-like) (GPR37), mRNA.	366						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TACATCTGTACGTTGGTGGCA	0.463													T	124387325	C	T	124387325	3	4	142	1	0	0	0	0	1	0	0	0	6745	536	19	1	749	1	GPR37	7	124387325	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	15863199	124387325	34751338	34	9504											
AKR1B10	57016	broad.mit.edu	37	chr7	134212671	134212671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcaccaaccatggccaCgtttgtggagctcagtacca	9	10	9	13	1	2	0	1	0	1	0	2	1	2	1	4	2	4	4	4	2	2	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr7:134212671C>T	uc003vrr.3	+	0	328	c.8C>T	c.(7-9)aCg>aTg	p.T3M		NM_020299	NP_064695	O60218	AK1BA_HUMAN	Homo sapiens aldo-keto reductase family 1, member B10 (aldose reductase) (AKR1B10), mRNA.	3					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						ACCATGGCCACGTTTGTGGAG	0.502													T	134212671	C	T	134212671	3	4	142	1	0	0	0	0	1	0	0	0	467	536	19	1	10	1	AKR1B10	7	134212671	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	9825346	134212671	24925992	35	9505											
EBF2	64641	broad.mit.edu	37	chr8	25718712	25718712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgctgtagagagcttcagCaatgtctgcggctcgcttca	8	10	12	11	3	3	1	2	0	1	1	4	3	3	1	0	1	3	6	0	1	2	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:25718712C>A	uc003xes.2	-	12	1460	c.1195G>T	c.(1195-1197)Gct>Tct	p.A399S	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	399					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding	p.I398F(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		AGAGCTTCAGCAATGTCTGCG	0.493													A	25718712	C	A	25718712	3	1	142	1	0	0	0	0	1	0	0	0	4920	710	25	4	548	4	EBF2	8	25718712	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		25718712	120645310	36	9506											
LY96	23643	broad.mit.edu	37	chr8	74922304	74922304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaatcttccaaagcgcAaagaagttatttgccgagga	14	9	9	9	2	1	2	0	1	1	1	2	4	2	3	3	1	2	2	3	1	5	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:74922304A>G	uc003yad.3	+	2	385	c.271A>G	c.(271-273)Aaa>Gaa	p.K91E	LY96_uc022awb.1_Missense_Mutation_p.K61E	NM_015364	NP_056179	Q9Y6Y9	LY96_HUMAN	Homo sapiens lymphocyte antigen 96 (LY96), transcript variant 1, mRNA.	91					cellular defense response|detection of lipopolysaccharide|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	extracellular space|lipopolysaccharide receptor complex|plasma membrane	coreceptor activity|lipopolysaccharide receptor activity|protein binding	p.R90C(2)		endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5	Breast(64;0.0311)		Epithelial(68;0.0208)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0619)			TCCAAAGCGCAAAGAAGTTAT	0.343													G	74922304	A	G	74922304	3	3	142	1	0	0	0	0	1	0	0	0	9173	131	5	3	281	3	LY96	8	74922304	Missense_Mutation	SNP	A	TCGA-14-1829-01A-01W-0643-08	49203592	74922304	71441718	37	9507											
TAF2	6873	broad.mit.edu	37	chr8	120831592	120831592	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgcataacttactgttttGattcactgtgacaaacttcc	11	15	6	9	0	1	2	1	2	0	0	2	2	2	2	1	0	4	2	1	0	3	6			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr8:120831592G>C	uc003you.3	-	2	563	c.293C>G	c.(292-294)tCa>tGa	p.S98*		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	98					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTACTGTTTTGATTCACTGTG	0.289													C	120831592	G	C	120831592	4	2	142	1	0	0	0	0	0	1	0	0	15621	1294	45	4	3402	4	TAF2	8	120831592	Nonsense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	45909288	120831592	25532430	38	9508											
C9orf131	138724	broad.mit.edu	37	chr9	35045372	35045372	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggtgtggactatctatctCcaggcccaggagaaccctca	9	9	10	13	0	3	1	1	0	2	1	4	3	3	2	3	4	1	0	3	4	3	2	rs3739871	byFrequency	TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr9:35045372C>G	uc003zvw.3	+	1	2775	c.2746C>G	c.(2746-2748)Cca>Gca	p.P916A	C9orf131_uc003zvu.3_Missense_Mutation_p.P868A|C9orf131_uc003zvv.3_Missense_Mutation_p.P843A|C9orf131_uc003zvx.3_Missense_Mutation_p.P881A	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	916			P -> S (in dbSNP:rs3739871).							cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTATCTATCTCCAGGCCCAGG	0.537													G	35045372	C	G	35045372	3	3	142	1	0	0	0	0	1	0	0	0	2483	855	30	4	2768	4	C9orf131	9	35045372	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		35045372	106168059	39	9509											
ARHGAP22	58504	broad.mit.edu	37	chr10	49667897	49667897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccatacttccgctcGtggtggactgtttcctctag	4	12	13	12	3	1	0	0	0	1	0	4	1	3	1	3	4	1	2	3	4	2	4	rs78086414		TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:49667897G>A	uc001jgu.3	-	4	834	c.537C>T	c.(535-537)caC>caT	p.H179H	ARHGAP22_uc001jgs.3_Silent_p.H73H|ARHGAP22_uc001jgt.3_Silent_p.H163H|ARHGAP22_uc010qgl.2_Silent_p.H120H|ARHGAP22_uc010qgm.2_Silent_p.H169H|ARHGAP22_uc001jgv.3_5'UTR	NM_021226	NP_067049	Q7Z5H3	RHG22_HUMAN	Homo sapiens Rho GTPase activating protein 22 (ARHGAP22), transcript variant 3, mRNA.	163	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTTCCGCTCGTGGTGGACTG	0.642													A	49667897	G	A	49667897	2	1	142	1	0	0	0	0	0	0	0	1	875	1136	40	1		1	ARHGAP22	10	49667897	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		49667897	85866850	40	9510											
TLL2	7093	broad.mit.edu	37	chr10	98156950	98156950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcgcacaaaccttcgtaCgctgcaaagaagcccttgcc	11	7	7	16	3	0	1	0	0	0	1	2	1	0	1	4	0	5	4	4	0	4	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr10:98156950C>T	uc001kml.2	-	10	1618	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	TLL2_uc009xvf.2_Silent_p.A437A	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	459	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.A459A(2)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AACCTTCGTACGCTGCAAAGA	0.622													T	98156950	C	T	98156950	2	4	142	1	0	0	0	0	0	0	0	1	16046	523	19	1		1	TLL2	10	98156950	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	48489053	98156950	37377797	41	9511											
OR4D10	390197	broad.mit.edu	37	chr11	59244963	59244963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttggcctgacccagaatCgggaagtgagcttagtctta	9	11	11	10	1	1	3	0	2	1	1	3	4	2	4	3	2	1	1	3	2	4	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:59244963C>T	uc001nnz.1	+	0	61	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GACCCAGAATCGGGAAGTGAG	0.413													T	59244963	C	T	59244963	3	4	142	1	0	0	0	0	1	0	0	0	11130	875	31	1	63	1	OR4D10	11	59244963	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		59244963	75761553	42	9512											
PKNOX2	63876	broad.mit.edu	37	chr11	125255470	125255470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttttcccgctcctgaCgctgctgtttgagaaatgtg	5	14	9	13	2	1	2	0	2	1	1	3	3	3	2	3	0	1	4	3	0	1	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr11:125255470C>T	uc001qbu.3	+	5	565	c.251C>T	c.(250-252)aCg>aTg	p.T84M	PKNOX2_uc010saz.2_Missense_Mutation_p.T55M|PKNOX2_uc010sba.2_Missense_Mutation_p.T55M|PKNOX2_uc010sbb.2_Missense_Mutation_p.T20M	NM_022062	NP_071345	Q96KN3	PKNX2_HUMAN	Homo sapiens PBX/knotted 1 homeobox 2 (PKNOX2), mRNA.	84						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CCGCTCCTGACGCTGCTGTTT	0.567													T	125255470	C	T	125255470	3	4	142	1	0	0	0	0	1	0	0	0	12060	536	19	1	261	1	PKNOX2	11	125255470	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	66010507	125255470	9751046	43	9513											
LTBR	4055	broad.mit.edu	37	chr12	6497971	6497971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctccattgcaggatcgCtgctcaagaggcgtccgcag	8	9	11	13	3	2	1	1	0	1	1	5	2	3	2	2	2	2	4	2	2	1	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:6497971C>T	uc001qny.1	+	7	949	c.781C>T	c.(781-783)Ctg>Ttg	p.L261L	LTBR_uc010sfc.1_Silent_p.L242L|LTBR_uc001qnz.1_Silent_p.L256L	NM_002342	NP_002333	P36941	TNR3_HUMAN	Homo sapiens lymphotoxin beta receptor (TNFR superfamily, member 3) (LTBR), mRNA.	261					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						TGCAGGATCGCTGCTCAAGAG	0.562													T	6497971	C	T	6497971	2	4	142	1	0	0	0	0	0	0	0	1	9147	796	28	2		2	LTBR	12	6497971	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08		6497971	127353924	44	9514											
SLC17A8	246213	broad.mit.edu	37	chr12	100811900	100811900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctctctggaatggtctGtcccctcattgtcggtgcaa	7	12	9	13	1	3	0	1	0	2	0	6	1	4	1	3	3	2	1	3	3	3	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr12:100811900G>A	uc010svi.2	+	10	1704	c.1391G>A	c.(1390-1392)tGt>tAt	p.C464Y	SLC17A8_uc009ztx.3_Missense_Mutation_p.C414Y	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	464					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C464S(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAATGGTCTGTCCCCTCATT	0.498													A	100811900	G	A	100811900	3	1	142	1	0	0	0	0	1	0	0	0	14517	1377	48	2	1433	2	SLC17A8	12	100811900	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	94313929	100811900	33039995	45	9515											
SIAH3	283514	broad.mit.edu	37	chr13	46358034	46358034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgtcaccgggttggcGtgcagccccgcctcctggtg	3	7	16	15	4	1	0	1	0	0	0	2	0	2	0	5	4	2	2	5	4	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr13:46358034G>A	uc001vap.3	-	1	376	c.294C>T	c.(292-294)caC>caT	p.H98H		NM_198849	NP_942146	Q8IW03	SIAH3_HUMAN	Homo sapiens seven in absentia homolog 3 (Drosophila) (SIAH3), mRNA.	98	His-rich.				multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						CCGGGTTGGCGTGCAGCCCCG	0.682													A	46358034	G	A	46358034	2	1	142	1	0	0	0	0	0	0	0	1	14395	1136	40	1		1	SIAH3	13	46358034	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		46358034	68811844	46	9516											
NRXN3	9369	broad.mit.edu	37	chr14	80328137	80328137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttgatcctcctgtacGccatgtacaagtacaggaac	11	10	8	12	1	1	1	0	1	1	0	3	2	3	2	3	1	4	4	3	1	5	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:80328137G>A	uc001xun.3	+	16	3507	c.3016G>A	c.(3016-3018)Gcc>Acc	p.A1006T	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Missense_Mutation_p.A582T|NRXN3_uc010asw.3_Missense_Mutation_p.A404T|NRXN3_uc001xur.4_Missense_Mutation_p.A377T	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	582					angiogenesis|cell adhesion	integral to membrane		p.Y1005Y(2)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CCTCCTGTACGCCATGTACAA	0.597													A	80328137	G	A	80328137	3	1	142	1	0	0	0	0	1	0	0	0	10743	1087	38	1	3428	1	NRXN3	14	80328137	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		80328137	27021403	47	9517											
DIO3	1735	broad.mit.edu	37	chr14	102028607	102028607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggcctatggcgcctacttCgagcgtctctatgtcatcca	6	12	9	14	4	2	0	1	0	1	0	6	1	3	0	3	2	2	0	3	2	3	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr14:102028607C>T	uc021sdx.1	+	0	920	c.774C>T	c.(772-774)ttC>ttT	p.F258F	DIO3AS_uc001ykd.1_5'Flank|DIO3OS_uc001yke.3_5'Flank|DIO3AS_uc001ykf.3_5'Flank|DIO3AS_uc001ykg.3_5'Flank|DIO3AS_uc001ykh.3_5'Flank|DIO3AS_uc021sdw.1_5'Flank	NM_001362	NP_001353	P55073	IOD3_HUMAN	Homo sapiens deiodinase, iodothyronine, type III (DIO3), mRNA.	232					cellular nitrogen compound metabolic process|hormone biosynthetic process	endosome membrane|integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|thyroxine 5-deiodinase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)|skin(1)	22		all_neural(303;0.185)				GCGCCTACTTCGAGCGTCTCT	0.632													T	102028607	C	T	102028607	2	4	142	1	0	0	0	0	0	0	0	1	4565	883	31	1		1	DIO3	14	102028607	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	21700470	102028607	5320933	48	9518											
CEP152	22995	broad.mit.edu	37	chr15	49076318	49076318	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgagagcaaatgtcttcCtaaatagaaaaaaagttcag	19	8	8	6	1	2	3	1	0	1	3	3	4	3	3	1	0	1	2	1	0	7	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr15:49076318C>T	uc001zwz.3	-	10	1367	c.1174_splice	c.e10-1	p.E392_splice	CEP152_uc001zwy.3_Splice_Site_p.E392_splice|CEP152_uc001zxa.2_Splice_Site_p.E299_splice	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	392					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AAATGTCTTCCTAAATAGAAA	0.294													T	49076318	C	T	49076318	5	4	142	1	0	0	0	0	0	0	1	0	3278	695	24	2	3859	2	CEP152	15	49076318	Splice_Site	SNP	C	TCGA-14-1829-01A-01W-0643-08		49076318	53455074	49	9519											
SMG1	23049	broad.mit.edu	37	chr16	18853724	18853724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactgatttcttcaagaCgcaagatgtaacttgcacgt	12	12	9	8	2	2	3	1	1	1	2	2	4	2	4	0	1	2	3	0	1	3	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr16:18853724C>T	uc002dfm.3	-	39	6635	c.6272G>A	c.(6271-6273)cGt>cAt	p.R2091H	SMG1_uc010bwb.3_Missense_Mutation_p.R1951H|SMG1_uc010bwa.3_Missense_Mutation_p.R822H|SMG1_uc021ted.1_Missense_Mutation_p.R389H	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	2091					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTCTTCAAGACGCAAGATGTA	0.408													T	18853724	C	T	18853724	3	4	142	1	0	0	0	0	1	0	0	0	14889	536	19	1	4809	1	SMG1	16	18853724	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08		18853724	71501029	50	9520											
FAM83G	644815	broad.mit.edu	37	chr17	18875008	18875008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggggtcctgggaagccGtctttatccctagtccctga	6	11	12	12	1	1	1	0	1	1	0	4	2	4	2	4	3	1	0	4	3	4	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:18875008G>A	uc002guw.3	-	5	2303	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	712										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGAAGCCGTCTTTATCCC	0.622													A	18875008	G	A	18875008	2	1	142	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAM83G	17	18875008	Silent	SNP	G	TCGA-14-1829-01A-01W-0643-08		18875008	62320202	51	9521											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843451	40843451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccatctgcctgtcactCaggtagtgataggggatacg	9	10	13	9	1	3	1	2	1	1	0	3	3	3	3	2	4	2	1	2	4	3	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:40843451C>A	uc002iay.3	+	14	2482	c.2266C>A	c.(2266-2268)Cag>Aag	p.Q756K	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	756	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GCCTGTCACTCAGGTAGTGAT	0.587													A	40843451	C	A	40843451	3	1	142	1	0	0	0	0	1	0	0	0	3677	827	29	4	2324	4	CNTNAP1	17	40843451	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	21968443	40843451	40351759	52	9522											
METRNL	284207	broad.mit.edu	37	chr17	81042908	81042908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtacccaacaggtgctCtcatcgttaacctgcggccc	8	9	10	14	2	1	0	1	0	1	0	3	1	1	1	3	3	5	3	3	3	3	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042908C>A	uc002kgh.3	+	1	390	c.265C>A	c.(265-267)Ctc>Atc	p.L89I	METRNL_uc002kgi.3_Missense_Mutation_p.L7I	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	89						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AACAGGTGCTCTCATCGTTAA	0.617													A	81042908	C	A	81042908	3	1	142	1	0	0	0	0	1	0	0	0	9564	913	32	4	271	4	METRNL	17	81042908	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	40199457	81042908	152302	53	9523											
METRNL	284207	broad.mit.edu	37	chr17	81042984	81042984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcaggtccttcacggactCctcgggggccaatatttatt	8	12	9	12	2	2	0	2	0	0	0	5	1	4	1	3	4	0	0	3	4	3	5			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr17:81042984C>T	uc002kgh.3	+	1	466	c.341C>T	c.(340-342)tCc>tTc	p.S114F	METRNL_uc002kgi.3_Missense_Mutation_p.S32F	NM_001004431	NP_001004431	Q641Q3	METRL_HUMAN	Homo sapiens meteorin, glial cell differentiation regulator-like (METRNL), mRNA.	114						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTCACGGACTCCTCGGGGGCC	0.592													T	81042984	C	T	81042984	3	4	142	1	0	0	0	0	1	0	0	0	9564	855	30	2	347	2	METRNL	17	81042984	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	76	81042984	152226	54	9524											
MUC16	94025	broad.mit.edu	37	chr19	9026244	9026244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggagccagtgcgacGcatgtcctcctcgtactgca	6	10	10	15	3	0	0	0	0	0	0	4	2	3	1	4	1	4	3	4	1	1	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9026244G>A	uc002mkp.3	-	13	36946	c.36742C>T	c.(36742-36744)Cgt>Tgt	p.R12248C		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12250	SEA 2.				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						CCAGTGCGACGCATGTCCTCC	0.542													A	9026244	G	A	9026244	3	1	142	1	0	0	0	0	1	0	0	0	10049	1087	38	1	7065	1	MUC16	19	9026244	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08		9026244	50102739	55	9525											
MUC16	94025	broad.mit.edu	37	chr19	9085463	9085463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgttcaaagtactcgCggctgtattctggggaccat	9	12	11	9	2	3	0	2	0	1	0	4	1	3	1	1	3	1	4	1	3	3	4			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:9085463C>T	uc002mkp.3	-	0	6556	c.6352G>A	c.(6352-6354)Gcg>Acg	p.A2118T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2118	Ser-rich.|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						AAAGTACTCGCGGCTGTATTC	0.488													T	9085463	C	T	9085463	3	4	142	1	0	0	0	0	1	0	0	0	10049	768	27	1	37507	1	MUC16	19	9085463	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	59219	9085463	50043520	56	9526											
MAN2B1	4125	broad.mit.edu	37	chr19	12768940	12768940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccaggcccaccagcgcctCcagctggttgcacacctgga	7	5	11	18	2	0	0	0	0	0	0	1	1	1	1	6	3	3	3	6	3	0	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:12768940C>G	uc002mub.2	-	9	1322	c.1246G>C	c.(1246-1248)Gag>Cag	p.E416Q	MAN2B1_uc010dyv.1_Missense_Mutation_p.E415Q	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	416					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						ACCAGCGCCTCCAGCTGGTTG	0.687													G	12768940	C	G	12768940	3	3	142	1	0	0	0	0	1	0	0	0	9291	864	30	4	1849	4	MAN2B1	19	12768940	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	3683477	12768940	46360043	57	9527											
IL12RB1	3594	broad.mit.edu	37	chr19	18171938	18171938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggcatccttacctccttCcctccagggaactcaatggc	10	9	7	15	0	1	0	1	0	0	0	5	1	5	1	5	3	2	1	5	3	4	2			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:18171938C>A	uc002nhx.1	-	15	1956	c.1905G>T	c.(1903-1905)ggG>ggT	p.G635G	IL12RB1_uc002nhw.1_Silent_p.G595G|IL12RB1_uc010xqb.1_Silent_p.G595G	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	595					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						TTACCTCCTTCCCTCCAGGGA	0.552													A	18171938	C	A	18171938	2	1	142	1	0	0	0	0	0	0	0	1	7684	842	30	4		4	IL12RB1	19	18171938	Silent	SNP	C	TCGA-14-1829-01A-01W-0643-08	5402998	18171938	40957045	58	9528											
MLL2	9757	broad.mit.edu	37	chr19	36212329	36212329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagctgagcctgagcctCgggcagtgggccgcaccaac	7	5	13	16	2	0	2	0	2	0	0	2	2	1	2	5	2	4	3	5	2	1	0			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:36212329C>T	uc021usv.1	+	2	2080	c.2080C>T	c.(2080-2082)Cgg>Tgg	p.R694W	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	825	Pro-rich.			Missing (in Ref. 1; AAC51734).	chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCTGAGCCTCGGGCAGTGGG	0.642			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			T	36212329	C	T	36212329	3	4	142	1	0	0	0	0	1	0	0	0	9696	875	31	1		1	MLL2	19	36212329	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	18040391	36212329	22916654	59	9529											
NLRP12	91662	broad.mit.edu	37	chr19	54327194	54327194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtccttcctgtttatccGctcaaaggtgctgagagcca	8	11	10	12	1	1	1	1	1	0	1	4	2	4	1	4	2	2	3	4	2	2	3			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54327194G>A	uc002qcj.4	-	0	455	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	NLRP12_uc002qch.4_Missense_Mutation_p.R79W|NLRP12_uc002qci.4_Missense_Mutation_p.R79W|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R79W	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	79	DAPIN.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CTGTTTATCCGCTCAAAGGTG	0.622													A	54327194	G	A	54327194	3	1	142	1	0	0	0	0	1	0	0	0	10550	1086	38	1	3086	1	NLRP12	19	54327194	Missense_Mutation	SNP	G	TCGA-14-1829-01A-01W-0643-08	18114865	54327194	4801789	60	9530											
LILRB2	10288	broad.mit.edu	37	chr19	54782762	54782762	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcccccgtaggagcggCtcacagggcccagggtgaag	8	4	16	13	2	1	1	1	1	0	0	1	2	1	2	3	5	1	2	3	5	2	1			TCGA-14-1829-01A-01W-0643-08	TCGA-14-1829-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c69ca476-9e11-4f6e-a4f5-6952f792a580	e73172bd-bb87-4131-901c-5f3eb2117df8	g.chr19:54782762C>G	uc002qfb.3	-	5	1126	c.860G>C	c.(859-861)aGc>aCc	p.S287T	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.S287T|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.S287T|LILRB2_uc010yet.2_Missense_Mutation_p.S171T|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	287	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGAGCGGCTCACAGGGCC	0.647													G	54782762	C	G	54782762	3	3	142	1	0	0	0	0	1	0	0	0	8851	797	28	4	972	4	LILRB2	19	54782762	Missense_Mutation	SNP	C	TCGA-14-1829-01A-01W-0643-08	455568	54782762	4346221	61	9531											
PEX14	5195	broad.mit.edu	37	chr1	10555347	10555347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagccaagctctactccagGaagtgaaaatgtgctgcctc	11	8	10	12	0	1	1	0	1	1	0	3	2	2	2	3	1	5	3	3	1	5	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:10555347G>A	uc001arn.3	+	1	74	c.53G>A	c.(52-54)gGa>gAa	p.G18E	PEX14_uc001arm.1_Non-coding_Transcript|PEX14_uc009vmu.1_Missense_Mutation_p.G18E|PEX14_uc009vmv.3_5'UTR|PEX14_uc010oam.2_5'UTR|PEX14_uc010oan.2_Missense_Mutation_p.G18E|PEX14_uc001arl.3_Non-coding_Transcript	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	18					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACTCCAGGAAGTGAAAAT	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10555347	G	A	10555347	3	1	143	1	0	0	0	0	1	0	0	0	11819	1174	41	2	59	2	PEX14	1	10555347	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		10555347	238695274	1	9532											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919972	12919972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagactctttgcaaactcGttttctccaggtgccatcat	9	14	7	11	1	3	2	1	1	2	1	5	2	3	2	2	1	3	2	2	1	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:12919972G>A	uc001aum.1	+	2	799	c.712G>A	c.(712-714)Gtt>Att	p.V238I		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	238										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TTGCAAACTCGTTTTCTCCAG	0.448													A	12919972	G	A	12919972	3	1	143	1	0	0	0	0	1	0	0	0	12518	1145	40	1	718	1	PRAMEF2	1	12919972	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2364625	12919972	236330649	2	9533											
C1orf173	127254	broad.mit.edu	37	chr1	75055329	75055329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttaccaccttcctccaacCcagggagacctgcctttttg	8	11	6	16	0	0	1	0	0	0	1	2	2	2	1	7	1	3	0	7	1	2	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:75055329C>A	uc001dgg.3	-	11	2381	c.2162G>T	c.(2161-2163)gGg>gTg	p.G721V	CR627203_uc001dgh.3_Intron|C1orf173_uc001dgi.4_Missense_Mutation_p.G515V	NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	721	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTCCTCCAACCCAGGGAGACC	0.473													A	75055329	C	A	75055329	3	1	143	1	0	0	0	0	1	0	0	0	2034	623	22	4	2442	4	C1orf173	1	75055329	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	62135357	75055329	174195292	3	9534											
GBP5	115362	broad.mit.edu	37	chr1	89732739	89732739	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctcagagtccacactaAgtctgggaagaagctcgcag	12	8	10	11	1	3	2	1	0	2	2	6	3	4	3	1	1	1	2	1	1	3	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:89732739A>T	uc001dnc.3	-	5	1063	c.526T>A	c.(526-528)Tta>Ata	p.L176I	GBP5_uc001dnd.3_Missense_Mutation_p.L176I|GBP5_uc001dne.1_Missense_Mutation_p.L176I	NM_052942	NP_443174	Q96PP8	GBP5_HUMAN	Homo sapiens guanylate binding protein 5 (GBP5), transcript variant 1, mRNA.	176						plasma membrane	GTP binding|GTPase activity	p.D175Y(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GTCCACACTAAGTCTGGGAAG	0.493													T	89732739	A	T	89732739	3	4	143	1	0	0	0	0	1	0	0	0	6331	69	3	5	1262	5	GBP5	1	89732739	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	14677410	89732739	159517882	4	9535											
TCHHL1	126637	broad.mit.edu	37	chr1	152058703	152058703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctttctgctgcaggtgcGtttttgctgttcacaaatgc	5	16	10	10	1	2	0	1	0	1	0	3	0	3	0	1	1	5	5	1	1	1	4	rs150195731	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:152058703G>A	uc001ezo.1	-	2	1520	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N		NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	Homo sapiens trichohyalin-like 1 (TCHHL1), mRNA.	485							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			CTGCAGGTGCGTTTTTGCTGT	0.478													A	152058703	G	A	152058703	2	1	143	1	0	0	0	0	0	0	0	1	15801	1136	40	1		1	TCHHL1	1	152058703	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	62325964	152058703	97191918	5	9536											
RGS21	431704	broad.mit.edu	37	chr1	192321267	192321267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgaagactttaagaaaaCgaaaaatgcagacaaaattg	20	8	8	5	1	0	4	0	1	0	3	0	5	0	4	0	0	2	1	0	0	8	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:192321267C>T	uc001gsh.3	+	3	353	c.179C>T	c.(178-180)aCg>aTg	p.T60M		NM_001039152	NP_001034241	Q2M5E4	RGS21_HUMAN	Homo sapiens regulator of G-protein signaling 21 (RGS21), mRNA.	60	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TTTAAGAAAACGAAAAATGCA	0.348													T	192321267	C	T	192321267	3	4	143	1	0	0	0	0	1	0	0	0	13393	536	19	1	189	1	RGS21	1	192321267	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	40262564	192321267	56929354	6	9537											
KCNH1	3756	broad.mit.edu	37	chr1	211192295	211192295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcaggtagttcatgcGgataagtttggggtcagaaa	10	12	13	6	2	4	1	3	0	1	1	4	2	4	2	0	4	1	3	0	4	3	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:211192295G>A	uc001hib.2	-	5	1032	c.862C>T	c.(862-864)Cgc>Tgc	p.R288C	KCNH1_uc001hic.2_Missense_Mutation_p.R288C	NM_172362	NP_758872	O95259	KCNH1_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 1 (KCNH1), transcript variant 1, mRNA.	288					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		TAGTTCATGCGGATAAGTTTG	0.448													A	211192295	G	A	211192295	3	1	143	1	0	0	0	0	1	0	0	0	8089	1116	39	1	2131	1	KCNH1	1	211192295	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	18871028	211192295	38058326	7	9538											
OBSCN	84033	broad.mit.edu	37	chr1	228479711	228479711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtggagtggaggaagggGcccgagaacctcagagatgg	10	5	18	8	1	1	2	1	0	0	2	1	7	1	5	3	6	1	0	3	6	2	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:228479711G>A	uc009xez.1	+	38	10496	c.10452G>A	c.(10450-10452)ggG>ggA	p.G3484G	OBSCN_uc001hsn.3_Silent_p.G3484G|OBSCN_uc001hsq.1_Silent_p.G740G	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	3484	Ig-like 35.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGAGGAAGGGGCCCGAGAACC	0.617													A	228479711	G	A	228479711	2	1	143	1	0	0	0	0	0	0	0	1	10888	1190	42	2		2	OBSCN	1	228479711	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	17287416	228479711	20770910	8	9539											
OR2T6	254879	broad.mit.edu	37	chr1	248551519	248551519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgatgtatgtgtgctgcGttgcaatgctgctgatcccc	6	13	12	10	1	0	2	0	2	0	0	1	2	1	2	2	0	5	6	2	0	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr1:248551519G>A	uc001iei.1	+	0	610	c.610G>A	c.(610-612)Gtt>Att	p.V204I		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTGTGCTGCGTTGCAATGCT	0.517													A	248551519	G	A	248551519	3	1	143	1	0	0	0	0	1	0	0	0	11105	1145	40	1	612	1	OR2T6	1	248551519	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	20071808	248551519	699102	9	9540											
HK2	3099	broad.mit.edu	37	chr2	75081444	75081444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagtatctctaccacatgCgcctctctgatgagaccctc	9	10	6	16	1	2	2	0	2	2	1	5	3	2	2	4	0	2	1	4	0	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:75081444C>T	uc002snd.3	+	1	2014	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	30	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R30C(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCACATGCGCCTCTCTGA	0.488													T	75081444	C	T	75081444	3	4	143	1	0	0	0	0	1	0	0	0	7246	768	27	1	94	1	HK2	2	75081444	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		75081444	168117929	10	9541											
PSD4	23550	broad.mit.edu	37	chr2	113955141	113955141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgttctgttcctggaacagCgccatggggcaagcgtggct	6	10	15	10	2	1	0	0	0	1	0	2	1	2	1	2	4	3	4	2	4	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:113955141C>T	uc002tjc.3	+	13	2570	c.2387_splice	c.e13-1	p.T796_splice	PSD4_uc002tjd.3_Splice_Site_p.T417_splice|PSD4_uc002tje.3_Splice_Site_p.T767_splice|PSD4_uc002tjf.3_Splice_Site_p.T417_splice|PSD4_uc002tjg.3_5'UTR|PSD4_uc010yxs.2_Missense_Mutation_p.A27V|PSD4_uc002tjh.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	796	PH.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGGAACAGCGCCATGGGGC	0.552													T	113955141	C	T	113955141	3	4	143	1	0	0	0	0	1	0	0	0	12734	782	27	1	2433	1	PSD4	2	113955141	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	38873697	113955141	129244232	11	9542											
TMEM163	81615	broad.mit.edu	37	chr2	135215640	135215640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatggtgaggccgatcagaaCgcctatgctgccgtccaggt	8	9	13	11	3	1	2	1	1	0	1	2	3	2	2	4	3	3	1	4	3	3	2	rs145243913		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:135215640C>T	uc002ttx.3	-	6	838	c.772G>A	c.(772-774)Gtt>Att	p.V258I	TMEM163_uc002tty.3_Non-coding_Transcript	NM_030923	NP_112185	Q8TC26	TM163_HUMAN	Homo sapiens transmembrane protein 163 (TMEM163), mRNA.	258						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		CCGATCAGAACGCCTATGCTG	0.552													T	135215640	C	T	135215640	3	4	143	1	0	0	0	0	1	0	0	0	16178	536	19	1	105	1	TMEM163	2	135215640	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	21260499	135215640	107983733	12	9543											
GALNT13	114805	broad.mit.edu	37	chr2	155102330	155102330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatttctctgcaggaaaaCggttgtctgccctatcattg	9	15	8	9	1	3	0	1	0	2	0	4	1	3	1	1	2	3	2	1	2	4	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:155102330C>T	uc002tyt.4	+	4	796	c.692C>T	c.(691-693)aCg>aTg	p.T231M	GALNT13_uc002tyr.4_Missense_Mutation_p.T231M|GALNT13_uc010foc.1_Missense_Mutation_p.T50M|GALNT13_uc010fod.3_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	231						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCAGGAAAACGGTTGTCTGC	0.323													T	155102330	C	T	155102330	3	4	143	1	0	0	0	0	1	0	0	0	6265	536	19	1	710	1	GALNT13	2	155102330	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	19886690	155102330	88097043	13	9544											
TTN	7273	broad.mit.edu	37	chr2	179572434	179572434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagccttcaaccactggatCctaattggctcagatccctg	9	10	7	15	0	2	1	2	0	0	1	4	2	4	2	5	2	2	1	5	2	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:179572434C>A	uc021vsy.1	-	96	25353	c.25128G>T	c.(25126-25128)agG>agT	p.R8376S	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5037S	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9303	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACTGGATCCTAATTGGCT	0.498													A	179572434	C	A	179572434	3	1	143	1	0	0	0	0	1	0	0	0	16837	854	30	4	75721	4	TTN	2	179572434	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	24470104	179572434	63626939	14	9545											
PDE1A	5136	broad.mit.edu	37	chr2	183094871	183094871	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattaggcaagaaacaggAatctgtggaaagtaataatt	17	10	11	3	0	1	2	0	1	1	1	1	4	1	4	0	3	1	2	0	3	7	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:183094871A>G	uc002uos.3	-	6	669	c.585T>C	c.(583-585)atT>atC	p.I195I	PDE1A_uc010zfp.1_Silent_p.I91I|PDE1A_uc002uoq.1_Silent_p.I195I|PDE1A_uc010zfq.1_Silent_p.I195I|PDE1A_uc002uor.3_Silent_p.I179I|PDE1A_uc002uou.3_Silent_p.I161I	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	195	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			AAGAAACAGGAATCTGTGGAA	0.348													G	183094871	A	G	183094871	2	3	143	1	0	0	0	0	0	0	0	1	11709	242	9	3		3	PDE1A	2	183094871	Silent	SNP	A	TCGA-14-2554-01A-01D-1494-08	3522437	183094871	60104502	15	9546											
COL6A3	1293	broad.mit.edu	37	chr2	238277593	238277593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccctctgagcctcaggcGccgtatggcgtccagcaccg	5	6	11	19	4	2	1	1	1	1	0	3	1	3	1	7	2	2	2	7	2	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr2:238277593G>A	uc002vwl.2	-	9	4798	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	COL6A3_uc002vwo.2_Missense_Mutation_p.R1299C|COL6A3_uc010znj.1_Missense_Mutation_p.R898C	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1505	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCCTCAGGCGCCGTATGGCG	0.537													A	238277593	G	A	238277593	3	1	143	1	0	0	0	0	1	0	0	0	3732	1087	38	1	5160	1	COL6A3	2	238277593	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	55182722	238277593	4921780	16	9547											
RBMS3	27303	broad.mit.edu	37	chr3	29985717	29985717	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattcaatcccaagacaggaTtatgatactccaccagctgt	13	10	7	11	0	1	2	1	1	0	1	3	4	3	3	3	1	2	1	3	1	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:29985717T>G	uc003cel.3	+	11	1440	c.1070T>G	c.(1069-1071)aTt>aGt	p.I357S	RBMS3_uc010hfq.3_Intron|RBMS3_uc003cek.3_Intron|RBMS3_uc010hfr.3_Intron|RBMS3_uc003cem.3_Missense_Mutation_p.I339S	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	357						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAAGACAGGATTATGATACTC	0.388													G	29985717	T	G	29985717	3	3	143	1	0	0	0	0	1	0	0	0	13238	1493	52	5	1159	5	RBMS3	3	29985717	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		29985717	168036713	17	9548											
ITIH1	3697	broad.mit.edu	37	chr3	52825916	52825916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactgattatatcgtccccGacatcttctgagccctctgg	8	12	7	14	2	3	2	0	2	3	0	5	3	4	2	3	1	1	0	3	1	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr3:52825916G>A	uc003dfs.3	+	21	2755	c.2725G>A	c.(2725-2727)Gac>Aac	p.D909N	ITIH1_uc010hmn.2_Non-coding_Transcript|ITIH1_uc021wzf.1_Missense_Mutation_p.D767N|ITIH1_uc021wzg.1_Missense_Mutation_p.D621N|ITIH1_uc021wzh.1_Missense_Mutation_p.D621N|ITIH1_uc003dft.3_3'UTR|ITIH3_uc003dfv.2_5'Flank|ITIH3_uc011bek.1_5'Flank	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	909	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TATCGTCCCCGACATCTTCTG	0.607													A	52825916	G	A	52825916	3	1	143	1	0	0	0	0	1	0	0	0	7961	1058	37	1	2811	1	ITIH1	3	52825916	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	22840199	52825916	145196514	18	9549											
MAN2B2	23324	broad.mit.edu	37	chr4	6594914	6594914	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggtcaggattttactGgaatggcgtggctgtcttcc	7	12	13	9	1	2	0	1	0	1	0	3	2	3	2	1	5	1	2	1	5	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:6594914G>A	uc003gjf.1	+	5	731	c.695G>A	c.(694-696)tGg>tAg	p.W232*	MAN2B2_uc003gje.1_Nonsense_Mutation_p.W232*|MAN2B2_uc011bwf.1_Nonsense_Mutation_p.W232*	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	232					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGATTTTACTGGAATGGCGTG	0.582													A	6594914	G	A	6594914	4	1	143	1	0	0	0	0	0	1	0	0	9292	1357	47	2	717	2	MAN2B2	4	6594914	Nonsense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		6594914	184559362	19	9550											
OCIAD1	54940	broad.mit.edu	37	chr4	48853837	48853837	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacaggcactattatcaaaAgtcaaaatatgactcaagtg	17	11	6	7	0	3	1	3	1	0	0	3	1	3	1	0	1	1	1	0	1	9	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:48853837A>C	uc010igk.3	+	6	623	c.407A>C	c.(406-408)aAg>aCg	p.K136T	OCIAD1_uc011bzk.2_Non-coding_Transcript|OCIAD1_uc003gyo.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyq.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyp.3_Missense_Mutation_p.K131T|OCIAD1_uc003gyr.3_Missense_Mutation_p.K131T|OCIAD1_uc021xoc.1_Missense_Mutation_p.K131T	NM_001168254	NP_001161726	Q9NX40	OCAD1_HUMAN	Homo sapiens OCIA domain containing 1 (OCIAD1), transcript variant 6, mRNA.	131						endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TATTATCAAAAGTCAAAATAT	0.333													C	48853837	A	C	48853837	3	2	143	1	0	0	0	0	1	0	0	0	10893	72	3	5	433	5	OCIAD1	4	48853837	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	42258923	48853837	142300439	20	9551											
ENAM	10117	broad.mit.edu	37	chr4	71507774	71507774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatcatggctttgggggtCgccctccttattattcagaa	8	14	10	9	1	2	1	2	0	0	1	4	2	3	1	2	3	0	1	2	3	4	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:71507774C>T	uc011caw.1	+	8	912	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	211					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTTGGGGGTCGCCCTCCTTA	0.398													T	71507774	C	T	71507774	3	4	143	1	0	0	0	0	1	0	0	0	5153	884	31	1	661	1	ENAM	4	71507774	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	22653937	71507774	119646502	21	9552											
AFP	174	broad.mit.edu	37	chr4	74310789	74310789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtcctggatgtggcccatGtacatgagcactgttgcaga	9	11	12	9	0	0	2	0	1	0	1	1	3	1	3	2	2	3	4	2	2	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:74310789G>T	uc003hgz.1	+	6	840	c.793G>T	c.(793-795)Gta>Tta	p.V265L	AFP_uc011cbg.1_Missense_Mutation_p.V39L	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	265	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGTGGCCCATGTACATGAGCA	0.388									Alpha-Fetoprotein, Hereditary Persistence of				T	74310789	G	T	74310789	3	4	143	1	0	0	0	0	1	0	0	0	363	1377	48	4	819	4	AFP	4	74310789	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2803015	74310789	116843487	22	9553											
IRF2	3660	broad.mit.edu	37	chr4	185310216	185310216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttccgccagtgtggcCgcccctttcaagaaagtaat	8	11	8	14	2	2	1	1	0	1	1	4	1	4	1	6	1	0	1	6	1	3	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr4:185310216C>T	uc003iwf.4	-	8	946	c.746G>A	c.(745-747)cGg>cAg	p.R249Q		NM_002199	NP_002190	P14316	IRF2_HUMAN	Homo sapiens interferon regulatory factor 2 (IRF2), mRNA.	249					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.G248G(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		CCAGTGTGGCCGCCCCTTTCA	0.502													T	185310216	C	T	185310216	3	4	143	1	0	0	0	0	1	0	0	0	7886	652	23	1	307	1	IRF2	4	185310216	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	110999427	185310216	5844060	23	9554											
RAD50	10111	broad.mit.edu	37	chr5	131927096	131927096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgctgaccaaagacAaagtatgatttttctttttg	12	15	9	5	0	1	4	0	2	1	2	1	5	1	4	1	1	1	2	1	1	3	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr5:131927096A>G	uc003kxi.3	+	9	2034	c.1633A>G	c.(1633-1635)Aaa>Gaa	p.K545E	RAD50_uc003kxh.3_Missense_Mutation_p.K406E	NM_005732	NP_005723	Q92878	RAD50_HUMAN	Homo sapiens RAD50 homolog (S. cerevisiae) (RAD50), mRNA.	545					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCAAAGACAAAGTATGATT	0.378								Homologous recombination					G	131927096	A	G	131927096	3	3	143	1	0	0	0	0	1	0	0	0	13072	131	5	3	1671	3	RAD50	5	131927096	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		131927096	48988164	24	9555											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726546	25726546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttttgttatcgcgagaCgcattgcctgccagctcaag	7	14	10	10	3	1	1	1	0	0	1	2	2	1	1	2	0	3	4	2	0	2	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:25726546C>T	uc003nfc.3	-	0	245	c.210G>A	c.(208-210)gcG>gcA	p.A70A	HIST1H2BA_uc003nfd.3_5'Flank	NM_170745	NP_734466	Q96QV6	H2A1A_HUMAN	Homo sapiens histone cluster 1, H2aa (HIST1H2AA), mRNA.	70					nucleosome assembly	nucleosome|nucleus	DNA binding	p.A70A(2)|p.A70E(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TATCGCGAGACGCATTGCCTG	0.522													T	25726546	C	T	25726546	2	4	143	1	0	0	0	0	0	0	0	1	7183	523	19	1		1	HIST1H2AA	6	25726546	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		25726546	145388521	25	9556											
CFB	717	broad.mit.edu	37	chr6	31901972	31901972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgtaaaatccaaatccagCgctctggtcatctgaacctc	11	9	7	14	2	3	1	1	1	2	0	6	1	5	1	4	1	2	2	4	1	4	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:31901972C>T	uc003nyf.3	+	5	1009	c.745C>T	c.(745-747)Cgc>Tgc	p.R249C	CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|CFB_uc011dop.2_Intron|CFB_uc003nye.4_Missense_Mutation_p.R249C|CFB_uc010jtk.3_Missense_Mutation_p.R117C|CFB_uc011doq.2_Missense_Mutation_p.R220C|CFB_uc011dor.2_Intron|CFB_uc003nyh.2_5'Flank	NM_000063	NP_000054	P00751	CFAB_HUMAN	Homo sapiens complement component 2 (C2), transcript variant 1, mRNA.	265					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						CCAAATCCAGCGCTCTGGTCA	0.547													T	31901972	C	T	31901972	3	4	143	1	0	0	0	0	1	0	0	0	3308	768	27	1		1	CFB	6	31901972	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	6175426	31901972	139213095	26	9557											
PPP2R5D	5528	broad.mit.edu	37	chr6	42976451	42976451	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggcatactgtgtggtacaAttcctggagaaggagagcag	11	9	14	7	0	0	2	0	0	0	2	1	4	1	2	1	4	3	3	1	4	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:42976451A>G	uc003oth.3	+	9	1133	c.1047A>G	c.(1045-1047)caA>caG	p.Q349Q	MEA1_uc010jyc.1_Intron|PPP2R5D_uc010jyd.3_Silent_p.Q243Q|PPP2R5D_uc011dva.2_Silent_p.Q198Q|PPP2R5D_uc003oti.3_Silent_p.Q198Q|PPP2R5D_uc021yzq.1_Silent_p.Q317Q|PPP2R5D_uc003otj.3_Intron	NM_006245	NP_006236	Q14738	2A5D_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B', delta (PPP2R5D), transcript variant 1, mRNA.	349					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GTGTGGTACAATTCCTGGAGA	0.527													G	42976451	A	G	42976451	2	3	143	1	0	0	0	0	0	0	0	1	12477	98	4	3		3	PPP2R5D	6	42976451	Silent	SNP	A	TCGA-14-2554-01A-01D-1494-08	11074479	42976451	128138616	27	9558											
SUPT3H	8464	broad.mit.edu	37	chr6	44988338	44988338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgattacccttgctcccCgcagctgagaaacttcagca	10	9	9	13	1	1	2	1	2	0	1	2	4	2	2	3	0	5	4	3	0	2	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:44988338C>T	uc003oxp.3	-	3	384	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	SUPT3H_uc003oxn.1_Missense_Mutation_p.R73Q|SUPT3H_uc003oxo.3_Missense_Mutation_p.R84Q|SUPT3H_uc011dvv.2_5'UTR|SUPT3H_uc011dvw.2_5'UTR	NM_003599	NP_003590	O75486	SUPT3_HUMAN	Homo sapiens suppressor of Ty 3 homolog (S. cerevisiae) (SUPT3H), transcript variant 1, mRNA.	155					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity	p.R73L(1)|p.R84L(1)		breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CCTTGCTCCCCGCAGCTGAGA	0.318													T	44988338	C	T	44988338	3	4	143	1	0	0	0	0	1	0	0	0	15493	652	23	1	767	1	SUPT3H	6	44988338	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	2011887	44988338	126126729	28	9559											
STXBP5	134957	broad.mit.edu	37	chr6	147631323	147631323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgctgtgctagaaatgGactattcaattgttgatttt	10	16	9	6	0	1	2	1	1	0	1	1	3	1	3	0	1	2	4	0	1	4	7			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr6:147631323G>T	uc003qlz.3	+	9	1196	c.1021G>T	c.(1021-1023)Gac>Tac	p.D341Y	STXBP5_uc010khz.2_Missense_Mutation_p.D341Y|STXBP5_uc003qly.3_Missense_Mutation_p.D12Y	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	341					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		GCTAGAAATGGACTATTCAAT	0.368													T	147631323	G	T	147631323	3	4	143	1	0	0	0	0	1	0	0	0	15452	1174	41	4	1059	4	STXBP5	6	147631323	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	102642985	147631323	23483744	29	9560											
CDK13	8621	broad.mit.edu	37	chr7	40039057	40039057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcggaattattggagaaGgtacttacggacaagtttac	13	12	10	6	2	1	1	1	0	0	1	2	4	1	3	0	4	3	2	0	4	7	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:40039057G>A	uc003thh.4	+	3	2422	c.2140G>A	c.(2140-2142)Ggt>Agt	p.G714S	CDK13_uc003thi.4_Missense_Mutation_p.G714S|CDK13_uc011kbf.2_Missense_Mutation_p.G100S	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	714	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						TATTGGAGAAGGTACTTACGG	0.413													A	40039057	G	A	40039057	3	1	143	1	0	0	0	0	1	0	0	0	3159	1000	35	2	2154	2	CDK13	7	40039057	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		40039057	119099606	30	9561											
POM121L12	285877	broad.mit.edu	37	chr7	53104173	53104173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgggacttctgggaggCgacaacgccttcctgcggca	7	8	13	13	3	2	0	0	0	2	0	3	3	3	2	2	4	2	1	2	4	1	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:53104173C>T	uc003tpz.3	+	0	825	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	270								p.A270V(4)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TTCTGGGAGGCGACAACGCCT	0.632													T	53104173	C	T	53104173	3	4	143	1	0	0	0	0	1	0	0	0	12318	768	27	1	811	1	POM121L12	7	53104173	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	13065116	53104173	106034490	31	9562											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	143	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2128870	55233043	103905620	32	9563											
CYP3A4	1576	broad.mit.edu	37	chr7	99366124	99366124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgtaggccccaaagaCgctgagtggagaaagatgtg	12	7	14	8	1	0	4	0	1	0	3	0	5	0	4	2	2	1	3	2	2	3	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:99366124C>T	uc003urv.2	-	7	629	c.522_splice	c.e7-1	p.D174_splice	CYP3A4_uc003urw.2_Splice_Site_p.D174_splice|CYP3A4_uc011kiz.2_Splice_Site_p.D133_splice	NM_017460	NP_059488	P08684	CP3A4_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 4 (CYP3A4), transcript variant 1, mRNA.	174			D -> H (in allele CYP3A4*10).		alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	GCCCCAAAGACGCTGAGTGGA	0.448													T	99366124	C	T	99366124	3	4	143	1	0	0	0	0	1	0	0	0	4211	550	19	1	1016	1	CYP3A4	7	99366124	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	44133081	99366124	59772539	33	9564											
SH2B2	10603	broad.mit.edu	37	chr7	101943880	101943880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagccgccccggtcccaGtcccggtcccggtcccggac	3	4	12	22	6	0	0	0	0	0	0	4	1	4	1	8	4	1	1	8	4	0	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:101943880G>A	uc011kko.2	+	1	220	c.175G>A	c.(175-177)Gtc>Atc	p.V59I		NM_020979	NP_066189	O14492	SH2B2_HUMAN	Homo sapiens SH2B adaptor protein 2 (SH2B2), mRNA.	16					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						cccggtcccagtcccggtccc	0.706													A	101943880	G	A	101943880	3	1	143	1	0	0	0	0	1	0	0	0	14321	1029	36	2	181	2	SH2B2	7	101943880	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	2577756	101943880	57194783	34	9565											
C7orf66	154907	broad.mit.edu	37	chr7	108524569	108524569	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttgagaaagaccatcactGggtgtcatcacagccatcat	13	9	9	10	0	4	2	4	1	0	2	4	3	4	2	2	1	1	1	2	1	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:108524569G>T	uc003vfo.3	-	0	69	c.21C>A	c.(19-21)ccC>ccA	p.P7P		NM_001024607	NP_001019778	A4D0T2	CG066_HUMAN	Homo sapiens chromosome 7 open reading frame 66 (C7orf66), mRNA.	7						integral to membrane				breast(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)	15						GACCATCACTGGGTGTCATCA	0.413													T	108524569	G	T	108524569	2	4	143	1	0	0	0	0	0	0	0	1	2436	1335	47	4		4	C7orf66	7	108524569	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	6580689	108524569	50614094	35	9566											
ABP1	26	broad.mit.edu	37	chr7	150554147	150554147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtggcttctggccagCgccgcagttggcttatcata	5	11	15	10	2	2	0	1	0	1	0	2	0	2	0	2	5	1	4	2	5	2	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr7:150554147C>T	uc003why.1	+	2	4807	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	ABP1_uc003whz.1_Missense_Mutation_p.R197C|ABP1_uc003wia.1_Missense_Mutation_p.R197C	NM_001091	NP_001082	P19801	ABP1_HUMAN	Homo sapiens amiloride binding protein 1 (amine oxidase (copper-containing)) (ABP1), mRNA.	197					amine metabolic process	extracellular space|peroxisome	copper ion binding|diamine oxidase activity|heparin binding|histamine oxidase activity|methylputrescine oxidase activity|primary amine oxidase activity|propane-1,3-diamine oxidase activity|quinone binding			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(3)|prostate(2)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiloride(DB00594)|Spermine(DB00127)	TTCTGGCCAGCGCCGCAGTTG	0.577													T	150554147	C	T	150554147	3	4	143	1	0	0	0	0	1	0	0	0	98	768	27	1	591	1	ABP1	7	150554147	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	42029578	150554147	8584516	36	9567											
MAPK15	225689	broad.mit.edu	37	chr8	144801639	144801639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggagaccatcccaccGccatctgaggagggtgagcc	9	6	12	14	1	1	3	0	2	1	1	3	5	3	4	6	3	1	0	6	3	0	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr8:144801639G>A	uc003yzj.3	+	6	749	c.708G>A	c.(706-708)ccG>ccA	p.P236P		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	236	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCATCCCACCGCCATCTGAGG	0.662													A	144801639	G	A	144801639	2	1	143	1	0	0	0	0	0	0	0	1	9352	1074	38	1		1	MAPK15	8	144801639	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		144801639	1562383	37	9568											
ELAVL2	1993	broad.mit.edu	37	chr9	23701591	23701591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcgaataaaccctacacCccttgatatgcctatggtag	14	10	6	11	1	0	1	0	1	0	0	1	2	0	1	4	1	3	1	4	1	8	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:23701591C>A	uc003zpu.3	-	4	774	c.499G>T	c.(499-501)Ggt>Tgt	p.G167C	ELAVL2_uc003zps.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpt.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpv.3_Missense_Mutation_p.G167C|ELAVL2_uc003zpw.3_Missense_Mutation_p.G167C	NM_004432	NP_004423	Q12926	ELAV2_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B) (ELAVL2), transcript variant 1, mRNA.	167	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.G167D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		AACCCTACACCCCTTGATATG	0.443													A	23701591	C	A	23701591	3	1	143	1	0	0	0	0	1	0	0	0	5091	623	22	4	592	4	ELAVL2	9	23701591	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		23701591	117511840	38	9569											
TMEM215	401498	broad.mit.edu	37	chr9	32784490	32784490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccttcagacctagaatcCggcaaggggagctcagatga	12	6	11	12	1	2	4	2	1	0	3	3	5	3	5	4	3	1	2	4	3	3	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:32784490C>T	uc022bfh.1	+	0	309	c.309C>T	c.(307-309)tcC>tcT	p.S103S	TMEM215_uc003zri.4_Silent_p.S103S	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	103						integral to membrane		p.S103S(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						ACCTAGAATCCGGCAAGGGGA	0.602													T	32784490	C	T	32784490	2	4	143	1	0	0	0	0	0	0	0	1	16238	639	23	1		1	TMEM215	9	32784490	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	9082899	32784490	108428941	39	9570											
BSPRY	54836	broad.mit.edu	37	chr9	116122968	116122968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagaaacttgacaccatccGcactggcctggtgggcatgc	9	7	12	13	1	0	2	0	1	0	1	1	2	1	2	3	3	2	3	3	3	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr9:116122968G>A	uc004bhg.4	+	2	530	c.482G>A	c.(481-483)cGc>cAc	p.R161H	BSPRY_uc010muw.3_Missense_Mutation_p.R161H	NM_017688	NP_060158	Q5W0U4	BSPRY_HUMAN	Homo sapiens B-box and SPRY domain containing (BSPRY), mRNA.	161					calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GACACCATCCGCACTGGCCTG	0.602													A	116122968	G	A	116122968	3	1	143	1	0	0	0	0	1	0	0	0	1541	1087	38	1	492	1	BSPRY	9	116122968	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	83338478	116122968	25090463	40	9571											
EGR2	1959	broad.mit.edu	37	chr10	64573353	64573353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagagcgggagaaccgccGgtcgcagccttctgctgggc	6	6	16	13	4	2	2	1	0	1	2	3	3	2	2	3	3	4	2	3	3	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:64573353G>A	uc010qio.2	-	2	1104	c.1084C>T	c.(1084-1086)Cgg>Tgg	p.R362W	EGR2_uc010qim.2_Missense_Mutation_p.R349W|EGR2_uc010qin.2_Missense_Mutation_p.R299W|EGR2_uc001jmi.3_Missense_Mutation_p.R349W|EGR2_uc009xph.3_Missense_Mutation_p.R349W	NM_001136179	NP_001129651	P11161	EGR2_HUMAN	Homo sapiens early growth response 2 (EGR2), transcript variant 4, mRNA.	349					fat cell differentiation|protein export from nucleus|transcription from RNA polymerase II promoter	cytoplasm|nucleus	chromatin binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(13)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	36	Prostate(12;0.0297)|all_hematologic(501;0.228)					GAGAACCGCCGGTCGCAGCCT	0.642													A	64573353	G	A	64573353	3	1	143	1	0	0	0	0	1	0	0	0	5011	1115	39	1	389	1	EGR2	10	64573353	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08		64573353	70961394	41	9572											
PCGF5	84333	broad.mit.edu	37	chr10	93038067	93038067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcgaccaagaattgatttCggttagaccaaggggcccag	12	9	11	9	2	0	3	0	1	0	2	2	4	0	3	3	3	0	1	3	3	5	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr10:93038067C>T	uc001khi.3	+	9	1173	c.765C>T	c.(763-765)ttC>ttT	p.F255F	PCGF5_uc001khh.3_Silent_p.F255F|PCGF5_uc010qnk.2_Silent_p.F255F	NM_032373	NP_115749	Q86SE9	PCGF5_HUMAN	Homo sapiens polycomb group ring finger 5 (PCGF5), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GAATTGATTTCGGTTAGACCA	0.388													T	93038067	C	T	93038067	2	4	143	1	0	0	0	0	0	0	0	1	11653	883	31	1		1	PCGF5	10	93038067	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	28464714	93038067	42496680	42	9573											
OR5D13	390142	broad.mit.edu	37	chr11	55541269	55541269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaactttcatgttagcagCgatggcttatgaccgttttg	10	14	10	7	2	1	2	1	1	0	1	1	3	1	2	1	1	3	4	1	1	3	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:55541269C>T	uc010ril.2	+	0	356	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ATGTTAGCAGCGATGGCTTAT	0.423													T	55541269	C	T	55541269	3	4	143	1	0	0	0	0	1	0	0	0	11230	768	27	1	358	1	OR5D13	11	55541269	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08		55541269	79465247	43	9574											
OR5M9	390162	broad.mit.edu	37	chr11	56230864	56230864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaattctgtcacatccGtgaaattaggcattgcctta	12	13	8	8	1	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	5	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:56230864G>A	uc010rjj.2	-	0	14	c.14C>T	c.(13-15)aCg>aTg	p.T5M	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T5T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TGTCACATCCGTGAAATTAGG	0.408													A	56230864	G	A	56230864	3	1	143	1	0	0	0	0	1	0	0	0	11253	1145	40	1	920	1	OR5M9	11	56230864	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	689595	56230864	78775652	44	9575											
C11orf84	144097	broad.mit.edu	37	chr11	63585590	63585590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgagagctgagcagccGtccccacccaactcaggtag	10	5	12	14	2	1	2	1	2	0	1	2	4	2	2	4	1	4	3	4	1	2	1	rs114963373	by1000genomes	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:63585590G>A	uc001nxt.3	+	1	677	c.441G>A	c.(439-441)ccG>ccA	p.P147P		NM_138471	NP_612480	Q9BUA3	CK084_HUMAN	Homo sapiens chromosome 11 open reading frame 84 (C11orf84), mRNA.	147	Pro-rich.									endometrium(3)|kidney(1)|lung(3)|skin(1)	8						CTGAGCAGCCGTCCCCACCCA	0.587													A	63585590	G	A	63585590	2	1	143	1	0	0	0	0	0	0	0	1	1679	1132	40	1		1	C11orf84	11	63585590	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	7354726	63585590	71420926	45	9576											
CAPN1	823	broad.mit.edu	37	chr11	64950650	64950650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagctacccgcacagacAtctgccagggagcactgggt	10	6	13	12	1	1	1	0	0	1	1	1	3	1	3	2	3	4	3	2	3	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:64950650A>G	uc009yqd.2	+	2	516	c.319A>G	c.(319-321)Atc>Gtc	p.I107V	CAPN1_uc001odf.2_Missense_Mutation_p.I107V|CAPN1_uc001odg.2_Missense_Mutation_p.I107V|CAPN1_uc010roa.2_Intron	NM_001198868	NP_001185797	P07384	CAN1_HUMAN	Homo sapiens calpain 1, (mu/I) large subunit (CAPN1), transcript variant 1, mRNA.	107	Calpain catalytic.				positive regulation of cell proliferation|proteolysis	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		CCGCACAGACATCTGCCAGGG	0.602													G	64950650	A	G	64950650	3	3	143	1	0	0	0	0	1	0	0	0	2648	217	8	3	325	3	CAPN1	11	64950650	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	1365060	64950650	70055866	46	9577											
CABP2	51475	broad.mit.edu	37	chr11	67287267	67287267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcggcagggggtaccttCgaagtcgaccagaccgtccc	7	7	14	13	4	0	1	0	0	0	1	3	3	1	1	4	3	2	2	4	3	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67287267C>T	uc001ome.1	-	5	740	c.652G>A	c.(652-654)Gaa>Aaa	p.E218K	CABP2_uc001omc.1_Missense_Mutation_p.E212K			Q9NPB3	CABP2_HUMAN	Homo sapiens calcium binding protein 2 (CABP2), mRNA.	212	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGGGTACCTTCGAAGTCGACC	0.642													T	67287267	C	T	67287267	3	4	143	1	0	0	0	0	1	0	0	0	2558	893	31	1	36	1	CABP2	11	67287267	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	2336617	67287267	67719249	47	9578											
ALDH3B2	222	broad.mit.edu	37	chr11	67433035	67433035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggccacggtctgggggtCgcagttgtcgtccacgtagc	4	10	16	11	4	1	0	0	0	1	0	4	0	2	0	2	4	1	4	2	4	1	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr11:67433035C>T	uc001omr.3	-	6	866	c.427G>A	c.(427-429)Gac>Aac	p.D143N	ALDH3B2_uc001oms.3_Missense_Mutation_p.D143N|ALDH3B2_uc009ysa.1_Missense_Mutation_p.D143N	NM_000695	NP_001026786	P48448	AL3B2_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member B2 (ALDH3B2), transcript variant 1, mRNA.	143					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GTCTGGGGGTCGCAGTTGTCG	0.637													T	67433035	C	T	67433035	3	4	143	1	0	0	0	0	1	0	0	0	500	884	31	1	746	1	ALDH3B2	11	67433035	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	145768	67433035	67573481	48	9579											
CLEC4D	338339	broad.mit.edu	37	chr12	8672917	8672917	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgttgggtggaccagacGccatttaacccacgcagagt	9	8	13	11	3	0	2	0	0	0	2	0	3	0	3	3	3	1	2	3	3	1	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:8672917G>A	uc001qun.3	+	4	673	c.480G>A	c.(478-480)acG>acA	p.T160T		NM_080387	NP_525126	Q8WXI8	CLC4D_HUMAN	Homo sapiens C-type lectin domain family 4, member D (CLEC4D), mRNA.	160	C-type lectin.				innate immune response	integral to membrane	sugar binding	p.T160M(1)|p.Q159K(1)		large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					TGGACCAGACGCCATTTAACC	0.423													A	8672917	G	A	8672917	2	1	143	1	0	0	0	0	0	0	0	1	3545	1074	38	1		1	CLEC4D	12	8672917	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		8672917	125178978	49	9580											
TRHDE	29953	broad.mit.edu	37	chr12	73015443	73015443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaactacgtagagaagttAtaatgctggcctgcagtttt	12	12	11	6	1	0	2	0	0	0	2	0	4	0	2	1	1	4	5	1	1	6	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:73015443A>G	uc001sxa.3	+	14	2482	c.2452A>G	c.(2452-2454)Ata>Gta	p.I818V		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	818					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TAGAGAAGTTATAATGCTGGC	0.363													G	73015443	A	G	73015443	3	3	143	1	0	0	0	0	1	0	0	0	16580	449	16	3	2510	3	TRHDE	12	73015443	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	64342526	73015443	60836452	50	9581											
CCDC60	160777	broad.mit.edu	37	chr12	119968731	119968731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaagaacttccgccccGccaaaaagatcctggtgaaa	15	7	7	12	2	1	3	0	1	1	2	3	3	3	3	5	1	1	0	5	1	6	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr12:119968731G>A	uc001txe.3	+	12	1879	c.1414G>A	c.(1414-1416)Gcc>Acc	p.A472T	AF086288_uc001txf.3_Intron	NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	472										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		CTTCCGCCCCGCCAAAAAGAT	0.483													A	119968731	G	A	119968731	3	1	143	1	0	0	0	0	1	0	0	0	2859	1087	38	1	1464	1	CCDC60	12	119968731	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	46953288	119968731	13883164	51	9582											
TDRD3	81550	broad.mit.edu	37	chr13	61103056	61103056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtggtataaaaattgaaaAacattttaatgtaaatactg	19	13	6	3	0	0	1	0	1	0	0	0	1	0	1	0	1	2	2	0	1	10	7			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:61103056A>G	uc001vhz.4	+	10	2206	c.1418A>G	c.(1417-1419)aAa>aGa	p.K473R	TDRD3_uc010aef.2_Missense_Mutation_p.K298R|TDRD3_uc001via.3_Missense_Mutation_p.K473R|TDRD3_uc010aeg.3_Missense_Mutation_p.K566R|TDRD3_uc001vib.4_Missense_Mutation_p.K472R	NM_001146071	NP_110421	Q9H7E2	TDRD3_HUMAN	Homo sapiens tudor domain containing 3 (TDRD3), transcript variant 3, mRNA.	473					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAAATTGAAAAACATTTTAAT	0.313													G	61103056	A	G	61103056	3	3	143	1	0	0	0	0	1	0	0	0	15832	14	1	3	1739	3	TDRD3	13	61103056	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		61103056	54066822	52	9583											
COL4A2	1284	broad.mit.edu	37	chr13	111077144	111077144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggattacaaggattcccgGgactgcagggacgtaaagga	13	6	14	8	2	0	0	0	0	0	0	1	5	1	5	1	5	2	2	1	5	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr13:111077144G>A	uc001vqx.3	+	4	533	c.244G>A	c.(244-246)Gga>Aga	p.G82R		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	82					angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding	p.P81Q(1)		NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGATTCCCGGGACTGCAGGG	0.597													A	111077144	G	A	111077144	3	1	143	1	0	0	0	0	1	0	0	0	3721	1233	43	2	258	2	COL4A2	13	111077144	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	49974088	111077144	4092734	53	9584											
RNASE10	338879	broad.mit.edu	37	chr14	20979116	20979116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgcctgtgagctcaaGgggggaaaatgtcacaaaag	13	8	13	7	0	3	1	3	1	0	0	3	2	3	2	1	3	2	1	1	3	5	1	rs148975319		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr14:20979116G>A	uc001vxp.2	+	1	974	c.570G>A	c.(568-570)aaG>aaA	p.K190K	RNASE10_uc010tlj.2_Silent_p.K162K	NM_001012975	NP_001012993	Q5GAN6	RNS10_HUMAN	Homo sapiens ribonuclease, RNase A family, 10 (non-active) (RNASE10), mRNA.	162						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(2)|lung(8)|urinary_tract(1)	12	all_cancers(95;0.00123)		Epithelial(56;1.81e-07)|all cancers(55;1.86e-06)	GBM - Glioblastoma multiforme(265;0.022)|READ - Rectum adenocarcinoma(17;0.191)		GTGAGCTCAAGGGGGGAAAAT	0.478													A	20979116	G	A	20979116	2	1	143	1	0	0	0	0	0	0	0	1	13491	991	35	2		2	RNASE10	14	20979116	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		20979116	86370424	54	9585											
CKMT1B	1159	broad.mit.edu	37	chr15	43890515	43890515	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacatcaaactgccccTgctaagcaaagtaaaggagt	15	7	9	10	0	1	0	1	0	0	0	1	1	1	1	2	1	5	4	2	1	5	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr15:43890515T>G	uc001zsc.3	+	7	1393	c.1001T>G	c.(1000-1002)cTg>cGg	p.L334R	CKMT1B_uc010uds.2_Missense_Mutation_p.L365R|CKMT1B_uc010udv.1_3'UTR|CKMT1B_uc010bdj.3_Non-coding_Transcript|CKMT1B_uc010udy.1_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	334	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	AAACTGCCCCTGCTAAGCAAA	0.537													G	43890515	T	G	43890515	3	3	143	1	0	0	0	0	1	0	0	0	3481	1580	55	5	1027	5	CKMT1B	15	43890515	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		43890515	58640877	55	9586											
CACNG3	10368	broad.mit.edu	37	chr16	24358110	24358110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgaagatgctgactaCgaacaggacacagccgaata	14	7	9	11	2	0	3	0	2	0	1	1	6	1	4	2	1	4	1	2	1	5	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:24358110C>T	uc002dmf.3	+	1	1469	c.267C>T	c.(265-267)taC>taT	p.Y89Y		NM_006539	NP_006530	O60359	CCG3_HUMAN	Homo sapiens calcium channel, voltage-dependent, gamma subunit 3 (CACNG3), mRNA.	89					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	p.Y89*(2)|p.D88Y(1)		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)		ATGCTGACTACGAACAGGACA	0.562													T	24358110	C	T	24358110	2	4	143	1	0	0	0	0	0	0	0	1	2584	547	19	1		1	CACNG3	16	24358110	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		24358110	65996643	56	9587											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53671674	53671674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaagctttgttctgcaagCtgaccttcagatagtaaaga	12	11	9	9	0	2	3	1	1	1	2	2	3	2	3	2	0	3	5	2	0	5	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:53671674C>T	uc002ehp.3	-	20	3217	c.3153G>A	c.(3151-3153)caG>caA	p.Q1051Q	RPGRIP1L_uc002eho.4_Silent_p.Q1017Q|RPGRIP1L_uc010vgy.2_Silent_p.Q1051Q|RPGRIP1L_uc010cbx.3_Silent_p.Q1017Q|RPGRIP1L_uc010vgz.1_Silent_p.Q1051Q	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	1051					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GTTCTGCAAGCTGACCTTCAG	0.373													T	53671674	C	T	53671674	2	4	143	1	0	0	0	0	0	0	0	1	13641	796	28	2		2	RPGRIP1L	16	53671674	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	29313564	53671674	36683079	57	9588											
MVD	4597	broad.mit.edu	37	chr16	88724388	88724388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggccattcagccaaatcCggtcctcggtgaagtccttg	7	9	10	15	3	1	1	1	1	0	0	5	1	4	1	6	3	1	0	6	3	2	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr16:88724388C>T	uc002flg.1	-	2	198	c.191G>A	c.(190-192)cGg>cAg	p.R64Q	MVD_uc002flf.1_5'Flank	NM_002461	NP_002452	P53602	MVD1_HUMAN	Homo sapiens mevalonate (diphospho) decarboxylase (MVD), mRNA.	64					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CAGCCAAATCCGGTCCTCGGT	0.617													T	88724388	C	T	88724388	3	4	143	1	0	0	0	0	1	0	0	0	10070	652	23	1	1043	1	MVD	16	88724388	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	35052714	88724388	1630365	58	9589											
PER1	5187	broad.mit.edu	37	chr17	8053154	8053154	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccatggagcaaggctcGccctcctccaggctccactg	7	8	10	16	1	0	0	0	0	0	0	5	1	4	1	5	3	1	3	5	3	1	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr17:8053154G>A	uc002gkd.3	-	4	808	c.570C>T	c.(568-570)ggC>ggT	p.G190G	PER1_uc010vuq.2_Non-coding_Transcript|PER1_uc010vur.1_Silent_p.G174G|PER1_uc010vus.1_Silent_p.G190G	NM_002616	NP_002607	O15534	PER1_HUMAN	Homo sapiens period homolog 1 (Drosophila) (PER1), mRNA.	190					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AGCAAGGCTCGCCCTCCTCCA	0.602			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					A	8053154	G	A	8053154	2	1	143	1	0	0	0	0	0	0	0	1	11805	1074	38	1		1	PER1	17	8053154	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08		8053154	73142056	59	9590											
MADCAM1	8174	broad.mit.edu	37	chr19	498515	498515	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcccggaccagctgacCgtctccccagcagccctggt	5	7	10	19	2	1	1	0	1	1	0	3	2	2	2	7	2	3	2	7	2	0	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:498515C>A	uc002los.3	+	2	367	c.357C>A	c.(355-357)acC>acA	p.T119T	MADCAM1_uc002lot.3_Silent_p.T119T|MADCAM1_uc010drq.3_Silent_p.T24T	NM_130760	NP_570116	Q13477	MADCA_HUMAN	Homo sapiens mucosal vascular addressin cell adhesion molecule 1 (MADCAM1), transcript variant 1, mRNA.	119	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		ACCAGCTGACCGTCTCCCCAG	0.697													A	498515	C	A	498515	2	1	143	1	0	0	0	0	0	0	0	1	9222	639	23	4		4	MADCAM1	19	498515	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08		498515	58630468	60	9591											
HMHA1	23526	broad.mit.edu	37	chr19	1068628	1068628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccgccagcccgggcgaGctgcccaccgagggtgccgg	6	2	16	17	5	0	0	0	0	0	0	0	2	0	0	6	3	5	1	6	3	0	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:1068628G>A	uc002lqz.1	+	1	537	c.306G>A	c.(304-306)gaG>gaA	p.E102E	HMHA1_uc010xgd.1_Silent_p.E118E|HMHA1_uc010xge.1_Intron|HMHA1_uc002lra.1_5'UTR|HMHA1_uc002lrb.1_5'Flank	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	102					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCCCGGGCGAGCTGCCCACCG	0.716													A	1068628	G	A	1068628	2	1	143	1	0	0	0	0	0	0	0	1	7295	962	34	2		2	HMHA1	19	1068628	Silent	SNP	G	TCGA-14-2554-01A-01D-1494-08	570113	1068628	58060355	61	9592											
PIP5K1C	23396	broad.mit.edu	37	chr19	3653547	3653547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgcacgcagtacagcccaTagaacttgggcagcagcgtc	11	6	11	13	2	0	1	0	0	0	1	1	1	0	1	1	1	6	5	1	1	3	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:3653547T>C	uc002lyj.2	-	6	751	c.662A>G	c.(661-663)tAt>tGt	p.Y221C	PIP5K1C_uc010xhq.2_Missense_Mutation_p.Y221C|PIP5K1C_uc010xhr.2_Missense_Mutation_p.Y221C	NM_012398	NP_036530	O60331	PI51C_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, gamma (PIP5K1C), transcript variant 2, mRNA.	221	PIPK.				axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		GTACAGCCCATAGAACTTGGG	0.642													C	3653547	T	C	3653547	3	2	143	1	0	0	0	0	1	0	0	0	12018	1406	49	3	1392	3	PIP5K1C	19	3653547	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08	2584919	3653547	55475436	62	9593											
CYP4F3	4051	broad.mit.edu	37	chr19	15760895	15760895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatgccgtcatccaggagCggcgccgcaccctccctagc	7	5	11	18	4	1	1	1	0	0	1	3	2	3	2	5	2	3	1	5	2	1	1	rs141338088	byFrequency	TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:15760895C>T	uc010xok.2	+	6	870	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	CYP4F3_uc010xol.2_Missense_Mutation_p.R274W|CYP4F3_uc002nbj.3_Missense_Mutation_p.R274W|CYP4F3_uc010xom.2_Missense_Mutation_p.R125W|CYP4F3_uc002nbk.3_Missense_Mutation_p.R274W|CYP4F3_uc010xon.2_5'UTR	NM_001199208	NP_001186137	Q08477	CP4F3_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 3 (CYP4F3), transcript variant 2, mRNA.	274					leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CATCCAGGAGCGGCGCCGCAC	0.567													T	15760895	C	T	15760895	3	4	143	1	0	0	0	0	1	0	0	0	4223	759	27	1	842	1	CYP4F3	19	15760895	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	12107348	15760895	43368088	63	9594											
ZNF208	7757	broad.mit.edu	37	chr19	22155163	22155163	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctttgccacattcttcAcatttgtagggtttctctcc	8	16	5	12	0	3	0	1	0	2	0	5	0	4	0	3	1	2	2	3	1	2	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:22155163A>T	uc021urr.1	-	3	2822	c.2673T>A	c.(2671-2673)tgT>tgA	p.C891*	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				CACATTCTTCACATTTGTAGG	0.378													T	22155163	A	T	22155163	4	4	143	1	0	0	0	0	0	1	0	0	17867	157	6	5	1173	5	ZNF208	19	22155163	Nonsense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	6394268	22155163	36973820	64	9595											
EML2	24139	broad.mit.edu	37	chr19	46127976	46127976	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacagatggggtgacactgaCctttgccccaaacatagagg	13	7	11	10	0	0	4	0	2	0	2	0	4	0	4	3	3	3	0	3	3	3	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:46127976C>T	uc010xxm.2	-	12	1517	c.1444_splice	c.e12+1	p.G482_splice	EML2_uc002pcn.3_Splice_Site_p.G281_splice|EML2_uc002pcp.3_Splice_Site_p.G165_splice|EML2_uc002pco.3_Splice_Site|EML2_uc010xxl.2_Splice_Site_p.G428_splice|EML2_uc010xxn.1_Splice_Site|EML2_uc010xxo.2_Splice_Site_p.G281_splice|EML2_uc010ekj.3_Intron|EML2_uc010ekk.1_Splice_Site	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	281					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GTGACACTGACCTTTGCCCCA	0.507													T	46127976	C	T	46127976	5	4	143	1	0	0	0	0	0	0	1	0	5138	521	18	2	1151	2	EML2	19	46127976	Splice_Site	SNP	C	TCGA-14-2554-01A-01D-1494-08	23972813	46127976	13001007	65	9596											
SIGLEC9	27180	broad.mit.edu	37	chr19	51633283	51633283	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagccttgggactcgCggggacaggaggccactgac	8	6	17	10	2	0	2	0	2	0	0	1	5	0	5	2	6	1	0	2	6	1	1	rs141580830		TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:51633283C>A	uc010yct.2	+						SIGLEC9_uc002pvu.3_Silent_p.R447R	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.						cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		TTGGGACTCGCGGGGACAGGA	0.602													A	51633283	C	A	51633283	2	1	143	1	0	0	0	0	0	0	0	1	14409	759	27	4		4	SIGLEC9	19	51633283	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	5505307	51633283	7495700	66	9597											
BIRC8	112401	broad.mit.edu	37	chr19	53792992	53792993	+	Frame_Shift_Ins	INS	-	-	G																															tgtcaactgcttcagcacatINStgtttacaagtgaccagatg																										TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:53792992_53792993insG	uc002qbk.3	-	0	1883_1884	c.635_636insC	c.(634-636)caafs	p.Q212fs		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	212					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTCAGCACATTGTTTACAAGT	0.426													G	53792993	-	G	53792992	7	5	143	1	0	1	1	0	0	0	0	0	1446	1490	52	0	78	0	BIRC8	19	53792992	Frame_Shift_Ins	INS	-	TCGA-14-2554-01A-01D-1494-08	2159709	53792992	5335991	67	9598											
NLRP11	204801	broad.mit.edu	37	chr19	56300621	56300621	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaacatgcagttgggAtgtctcaaaccaccacatag	13	9	7	12	0	2	0	2	0	1	0	3	1	2	1	3	1	3	2	3	1	3	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr19:56300621A>T	uc010ygf.2	-	9	3369	c.2658T>A	c.(2656-2658)caT>caA	p.H886Q	NLRP11_uc002qlz.3_Missense_Mutation_p.H733Q|NLRP11_uc002qmb.3_Missense_Mutation_p.H787Q|NLRP11_uc002qmc.3_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	886							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TGCAGTTGGGATGTCTCAAAC	0.453													T	56300621	A	T	56300621	3	4	143	1	0	0	0	0	1	0	0	0	10549	330	12	5	455	5	NLRP11	19	56300621	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08	2507629	56300621	2828362	68	9599											
APCDD1L	164284	broad.mit.edu	37	chr20	57035877	57035877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaaggccagccctagaActaggggcagaagtgggaag	13	3	18	7	0	0	2	0	0	0	2	0	5	0	5	2	6	2	1	2	6	6	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr20:57035877A>T	uc010zzp.1	-	4	1832	c.1508T>A	c.(1507-1509)gTt>gAt	p.V503D	APCDD1L_uc002xze.1_Missense_Mutation_p.V492D	NM_153360	NP_699191	Q8NCL9	APCDL_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1-like (APCDD1L), mRNA.	492						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			CAGCCCTAGAACTAGGGGCAG	0.612													T	57035877	A	T	57035877	3	4	143	1	0	0	0	0	1	0	0	0	768	43	2	5	34	5	APCDD1L	20	57035877	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		57035877	5989643	69	9600											
LARGE	9215	broad.mit.edu	37	chr22	34046457	34046457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgccctcctccatggagtAggtcttggagtggttgcctc	5	12	13	11	0	1	0	0	0	1	0	4	2	3	2	4	4	2	2	4	4	1	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chr22:34046457A>T	uc003and.4	-	3	883	c.304T>A	c.(304-306)Tac>Aac	p.Y102N	LARGE_uc003ane.4_Missense_Mutation_p.Y102N|LARGE_uc010gwp.3_Missense_Mutation_p.Y102N|LARGE_uc011ame.2_Missense_Mutation_p.Y34N|LARGE_uc011amf.2_Missense_Mutation_p.Y102N	NM_004737	NP_598397	O95461	LARGE_HUMAN	Homo sapiens like-glycosyltransferase (LARGE), transcript variant 1, mRNA.	102					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				TCCATGGAGTAGGTCTTGGAG	0.667													T	34046457	A	T	34046457	3	4	143	1	0	0	0	0	1	0	0	0	8686	420	15	5	2018	5	LARGE	22	34046457	Missense_Mutation	SNP	A	TCGA-14-2554-01A-01D-1494-08		34046457	17258109	70	9601											
MXRA5	25878	broad.mit.edu	37	chrX	3238673	3238673	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcggtcagtaaacttacTaggaatgctgggtttggaca	10	13	11	7	1	2	0	1	0	1	0	3	2	2	2	0	4	3	3	0	4	5	5			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:3238673T>C	uc004crg.4	-	4	5210	c.5053A>G	c.(5053-5055)Agt>Ggt	p.S1685G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1685						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTAAACTTACTAGGAATGCTG	0.438													C	3238673	T	C	3238673	3	2	143	1	0	0	0	0	1	0	0	0	10079	1522	53	3	3445	3	MXRA5	23	3238673	Missense_Mutation	SNP	T	TCGA-14-2554-01A-01D-1494-08		3238673	152031887	71	9602											
MAGEB1	4112	broad.mit.edu	37	chrX	30269312	30269312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcctatgatggagaggaGcacttaatctatggggaacc	12	8	14	7	0	1	2	0	1	1	1	1	6	1	5	2	5	3	1	2	5	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:30269312G>T	uc022buh.1	+	0	702	c.702G>T	c.(700-702)gaG>gaT	p.E234D	MAGEB1_uc004dcc.3_Missense_Mutation_p.E234D|MAGEB1_uc004dcd.3_Missense_Mutation_p.E234D|MAGEB1_uc004dce.3_Missense_Mutation_p.E234D	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	234	MAGE.									NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						ATGGAGAGGAGCACTTAATCT	0.498													T	30269312	G	T	30269312	3	4	143	1	0	0	0	0	1	0	0	0	9247	962	34	4	704	4	MAGEB1	23	30269312	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	27030639	30269312	125001248	72	9603											
FAM47A	158724	broad.mit.edu	37	chrX	34150178	34150178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagtaaaaactcgtcaCggcgacaaacgagagtatct	14	7	12	8	4	2	1	1	0	1	1	3	4	2	2	0	3	2	2	0	3	5	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:34150178C>T	uc004ddg.3	-	0	270	c.218G>A	c.(217-219)cGt>cAt	p.R73H		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	73								p.R72C(1)|p.R72H(1)|p.R73C(1)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AAACTCGTCACGGCGACAAAC	0.532													T	34150178	C	T	34150178	3	4	143	1	0	0	0	0	1	0	0	0	5620	536	19	1	2161	1	FAM47A	23	34150178	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	3880866	34150178	121120382	73	9604											
ZNF674	641339	broad.mit.edu	37	chrX	46387797	46387797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctcacctgcacaggtccGtaccggggtccctccatctg	5	9	10	17	2	2	0	1	0	1	0	6	0	6	0	6	3	2	2	6	3	1	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:46387797G>A	uc004dgr.3	-	4	453	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	ZNF674_uc011mlg.2_Missense_Mutation_p.R76W|ZNF674_uc022bvl.1_Missense_Mutation_p.R76W|ZNF674_uc010nhm.2_Missense_Mutation_p.R76W	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	76	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						GCACAGGTCCGTACCGGGGTC	0.587													A	46387797	G	A	46387797	3	1	143	1	0	0	0	0	1	0	0	0	18182	1144	40	1	1527	1	ZNF674	23	46387797	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	12237619	46387797	108882763	74	9605											
ARHGEF9	23229	broad.mit.edu	37	chrX	62926262	62926262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacagaggcagtctgaattgGggtccaggtgtccgttctgc	7	10	15	9	1	2	2	0	1	2	1	4	3	4	2	2	4	1	2	2	4	1	2			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:62926262G>T	uc004dvl.2	-	2	1096	c.257C>A	c.(256-258)cCc>cAc	p.P86H	ARHGEF9_uc011mos.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvk.1_5'UTR|ARHGEF9_uc004dvm.1_Missense_Mutation_p.P65H|ARHGEF9_uc004dvj.2_5'UTR|ARHGEF9_uc011mot.2_Missense_Mutation_p.P33H|ARHGEF9_uc004dvn.3_Missense_Mutation_p.P93H	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	86					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						GTCTGAATTGGGGTCCAGGTG	0.547													T	62926262	G	T	62926262	3	4	143	1	0	0	0	0	1	0	0	0	915	1232	43	4	1325	4	ARHGEF9	23	62926262	Missense_Mutation	SNP	G	TCGA-14-2554-01A-01D-1494-08	16538465	62926262	92344298	75	9606											
THOC2	57187	broad.mit.edu	37	chrX	122799518	122799518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcataaatgacttgcctatgCgcaccacttttgcaaataaa	14	12	5	10	1	1	1	1	1	0	0	1	1	1	1	2	0	3	2	2	0	6	6			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:122799518C>T	uc004etu.3	-	11	1393	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	THOC2_uc011muh.1_Missense_Mutation_p.R375H|THOC2_uc011mui.1_Missense_Mutation_p.R339H	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	454					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CTTGCCTATGCGCACCACTTT	0.358													T	122799518	C	T	122799518	3	4	143	1	0	0	0	0	1	0	0	0	15965	768	27	1	3528	1	THOC2	23	122799518	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	59873256	122799518	32471042	76	9607											
STAG2	10735	broad.mit.edu	37	chrX	123215351	123215351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacttgatcagttgaaaaCaagagaagccattgccatgc	14	9	10	8	0	1	3	1	2	0	1	1	5	1	4	2	1	4	1	2	1	4	3			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123215351C>A	uc004eua.3	+	27	3301	c.2897C>A	c.(2896-2898)aCa>aAa	p.T966K	STAG2_uc004etz.4_Missense_Mutation_p.T966K|STAG2_uc004eub.3_Missense_Mutation_p.T966K|STAG2_uc004euc.3_Missense_Mutation_p.T966K|STAG2_uc004eud.3_Missense_Mutation_p.T966K|STAG2_uc004eue.3_Missense_Mutation_p.T966K	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	966					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGTTGAAAACAAGAGAAGCC	0.328													A	123215351	C	A	123215351	3	1	143	1	0	0	0	0	1	0	0	0	15339	478	17	4	2999	4	STAG2	23	123215351	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	415833	123215351	32055209	77	9608											
ODZ1	10178	broad.mit.edu	37	chrX	123870959	123870959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtccgctgcagggggtggCttcctggcacaggtgcaggc	5	7	18	11	1	0	0	0	0	0	0	2	1	2	0	2	6	2	5	2	6	0	1			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:123870959C>A	uc010nqy.3	-	3	688	c.624G>T	c.(622-624)aaG>aaT	p.K208N	ODZ1_uc011muj.2_Missense_Mutation_p.K208N|ODZ1_uc004euj.3_Missense_Mutation_p.K208N	NM_001163278	NP_001156750	Q9UKZ4	TEN1_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 1 (Drosophila) (ODZ1), transcript variant 1, mRNA.	208	Teneurin N-terminal.				immune response|negative regulation of cell proliferation|nervous system development|signal transduction	extracellular region	heparin binding			NS(4)|breast(7)|cervix(3)|endometrium(23)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(36)|liver(1)|lung(93)|ovary(13)|pancreas(3)|prostate(2)|skin(10)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	212						CAGGGGGTGGCTTCCTGGCAC	0.622													A	123870959	C	A	123870959	3	1	143	1	0	0	0	0	1	0	0	0	10910	796	28	4	7690	4	ODZ1	23	123870959	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	655608	123870959	31399601	78	9609											
FLNA	2316	broad.mit.edu	37	chrX	153581719	153581719	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcccggcccgagggCgggaccacagtggccgtcag	5	4	16	16	4	1	0	1	0	0	0	3	2	3	1	5	5	0	1	5	5	0	0			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:153581719C>T	uc004fkk.2	-	36	6216	c.5967G>A	c.(5965-5967)ccG>ccA	p.P1989P	FLNA_uc011mzn.1_Silent_p.P122P|FLNA_uc010nuu.1_Silent_p.P1981P	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1989					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGAGGGCGGGACCACAG	0.627													T	153581719	C	T	153581719	2	4	143	1	0	0	0	0	0	0	0	1	5982	755	27	1		1	FLNA	23	153581719	Silent	SNP	C	TCGA-14-2554-01A-01D-1494-08	29710760	153581719	1688841	79	9610											
F8	2157	broad.mit.edu	37	chrX	154185266	154185266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctacagattctttgtagCagatgaggagagggccaatg	12	10	13	6	0	2	4	0	1	2	3	2	6	2	4	1	2	2	2	1	2	3	4			TCGA-14-2554-01A-01D-1494-08	TCGA-14-2554-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53dec97d-0464-4ffd-8e2e-95b2b9a03af0	ea96115e-f5c4-4f9b-a1dc-ec2c4f591b2b	g.chrX:154185266C>A	uc004fmt.3	-	10	1889	c.1718G>T	c.(1717-1719)tGc>tTc	p.C573F		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	573	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTTTGTAGCAGATGAGGAG	0.448													A	154185266	C	A	154185266	3	1	143	1	0	0	0	0	1	0	0	0	5392	710	25	4	5429	4	F8	23	154185266	Missense_Mutation	SNP	C	TCGA-14-2554-01A-01D-1494-08	603547	154185266	1085294	80	9611											
KCNQ4	9132	broad.mit.edu	37	chr1	41289931	41289931	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttctgccctggggaaagGtaggggccccgtggggctgc	4	8	17	12	1	1	0	0	0	1	0	2	1	2	1	4	7	2	2	4	7	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:41289931G>T	uc001cgh.2	+	9	1374	c.1292_splice	c.e9+1	p.S431_splice	KCNQ4_uc001cgi.2_Intron	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	431					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CTGGGGAAAGGTAGGGGCCCC	0.667													T	41289931	G	T	41289931	5	4	144	1	0	0	0	0	0	0	1	0	8143	1275	44	4	1327	4	KCNQ4	1	41289931	Splice_Site	SNP	G	TCGA-14-3476-01B-01D-1353-08		41289931	207960690	1	9612											
ZNHIT6	54680	broad.mit.edu	37	chr1	86172017	86172017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatgtcagttctgctttGtgtttctttacacagggcaa	8	17	8	8	0	3	0	1	0	2	0	3	0	3	0	0	1	3	4	0	1	3	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:86172017G>C	uc001dlh.3	-	2	893	c.744C>G	c.(742-744)caC>caG	p.H248Q	ZNHIT6_uc010osc.2_Missense_Mutation_p.H209Q	NM_017953	NP_060423	Q9NWK9	BCD1_HUMAN	Homo sapiens zinc finger, HIT-type containing 6 (ZNHIT6), transcript variant 1, mRNA.	248					box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						GTTCTGCTTTGTGTTTCTTTA	0.353													C	86172017	G	C	86172017	3	2	144	1	0	0	0	0	1	0	0	0	18308	1368	48	4	700	4	ZNHIT6	1	86172017	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	44882086	86172017	163078604	2	9613											
GPR61	83873	broad.mit.edu	37	chr1	110086728	110086728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtttgtctgcttcttcaagCcagctccagaggaggagctg	8	11	12	10	0	3	1	1	0	2	1	4	3	4	3	2	2	4	4	2	2	1	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:110086728C>A	uc021orh.1	+	0	1084	c.1084C>A	c.(1084-1086)Cca>Aca	p.P362T	GPR61_uc001dxy.2_Missense_Mutation_p.P362T	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	362						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTTCTTCAAGCCAGCTCCAGA	0.557													A	110086728	C	A	110086728	3	1	144	1	0	0	0	0	1	0	0	0	6756	739	26	4	1086	4	GPR61	1	110086728	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	23914711	110086728	139163893	3	9614											
S100A7A	338324	broad.mit.edu	37	chr1	153391619	153391619	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatgtttttctcttcacAggacaaaaagggcatacatt	12	15	7	7	0	2	0	1	0	1	0	3	1	2	1	0	2	1	3	0	2	4	7			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:153391619A>T	uc001fbt.1	+	3	199	c.142_splice	c.e3-2	p.D48_splice		NM_176823	NP_789793	Q86SG5	S1A7A_HUMAN	Homo sapiens S100 calcium binding protein A7A (S100A7A), mRNA.	48	EF-hand 1.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TTCTCTTCACAGGACAAAAAG	0.408													T	153391619	A	T	153391619	5	4	144	1	0	0	0	0	0	0	1	0	13875	202	7	5	146	5	S100A7A	1	153391619	Splice_Site	SNP	A	TCGA-14-3476-01B-01D-1353-08	43304891	153391619	95859002	4	9615											
OLFML2B	25903	broad.mit.edu	37	chr1	161967994	161967994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccagggtgcggtccgagcGttcaggtcgcttgtcacagc	6	8	15	12	4	2	0	2	0	0	0	4	2	3	0	2	3	3	2	2	3	0	2	rs34123330	byFrequency	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:161967994G>A	uc010pkq.2	-	5	1522	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N	OLFML2B_uc001gbu.3_Silent_p.N365N	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	365								p.N365N(4)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			CGGTCCGAGCGTTCAGGTCGC	0.612													A	161967994	G	A	161967994	2	1	144	1	0	0	0	0	0	0	0	1	10934	1136	40	1		1	OLFML2B	1	161967994	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	8576375	161967994	87282627	5	9616											
CEP350	9857	broad.mit.edu	37	chr1	180053197	180053197	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgaaggtaggatcagagctCtgaaggatgagttgcggaaa	13	9	15	4	1	2	4	1	3	1	1	2	7	2	7	0	4	2	3	0	4	4	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:180053197C>G	uc001gnt.3	+	30	6552	c.6169C>G	c.(6169-6171)Ctg>Gtg	p.L2057V	CEP350_uc009wxl.2_Missense_Mutation_p.L2056V|CEP350_uc001gnv.3_Missense_Mutation_p.L192V|CEP350_uc001gnw.1_5'Flank	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2057						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GATCAGAGCTCTGAAGGATGA	0.358													G	180053197	C	G	180053197	3	3	144	1	0	0	0	0	1	0	0	0	3284	912	32	4	6287	4	CEP350	1	180053197	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	18085203	180053197	69197424	6	9617											
DSTYK	25778	broad.mit.edu	37	chr1	205138447	205138447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcgagtatattccagacGtttgggagtgatctgcaggt	8	15	12	6	2	1	2	0	1	1	1	3	4	2	3	1	2	1	3	1	2	2	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:205138447G>A	uc001hbw.3	-	2	1232	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	DSTYK_uc001hbx.3_Missense_Mutation_p.R390C|DSTYK_uc001hby.1_Intron	NM_015375	NP_056190	Q6XUX3	DUSTY_HUMAN	Homo sapiens dual serine/threonine and tyrosine protein kinase (DSTYK), transcript variant 1, mRNA.	390						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						TATTCCAGACGTTTGGGAGTG	0.458													A	205138447	G	A	205138447	3	1	144	1	0	0	0	0	1	0	0	0	4824	1145	40	1	1665	1	DSTYK	1	205138447	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	25085250	205138447	44112174	7	9618											
USH2A	7399	broad.mit.edu	37	chr1	216138718	216138718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaagagtccattagggCgaaaaggtgcttcccacctc	10	10	11	10	1	0	1	0	0	0	1	3	2	2	1	3	2	1	2	3	2	4	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr1:216138718C>T	uc001hku.1	-	36	7448	c.7061G>A	c.(7060-7062)cGc>cAc	p.R2354H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2354	Fibronectin type-III 10.		R -> H (in USH2A).		maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.R2354H(2)		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)		TCCATTAGGGCGAAAAGGTGC	0.403										HNSCC(13;0.011)			T	216138718	C	T	216138718	3	4	144	1	0	0	0	0	1	0	0	0	17138	768	27	1	8691	1	USH2A	1	216138718	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	11000271	216138718	33111903	8	9619											
ASAP2	8853	broad.mit.edu	37	chr2	9347326	9347326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcaccacccgcacggcGcagtgccggaacactgtggc	8	5	12	16	4	1	0	1	0	0	0	1	1	1	1	3	3	3	3	3	3	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:9347326G>A	uc002qzh.2	+	0	433	c.93G>A	c.(91-93)gcG>gcA	p.A31A	ASAP2_uc002qzi.2_Silent_p.A31A	NM_003887	NP_003878	O43150	ASAP2_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 2 (ASAP2), transcript variant 1, mRNA.	31					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CCCGCACGGCGCAGTGCCGGA	0.731													A	9347326	G	A	9347326	2	1	144	1	0	0	0	0	0	0	0	1	1016	1074	38	1		1	ASAP2	2	9347326	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		9347326	233852047	9	9620											
EHD3	30845	broad.mit.edu	37	chr2	31484555	31484555	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagatctcacctggggaCttccccaatctgaagaggat	11	8	9	13	0	2	3	1	1	2	2	4	5	3	5	4	3	0	0	4	3	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:31484555C>A	uc002rnu.3	+	4	1664	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	352					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CACCTGGGGACTTCCCCAATC	0.592													A	31484555	C	A	31484555	3	1	144	1	0	0	0	0	1	0	0	0	5018	564	20	4	1074	4	EHD3	2	31484555	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	22137229	31484555	211714818	10	9621											
BCL11A	53335	broad.mit.edu	37	chr2	60689292	60689292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcgcccttctgccaggccgGaagcctctctcgatactgat	7	9	10	15	3	2	1	0	1	2	0	4	3	2	2	4	2	4	0	4	2	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:60689292G>A	uc002sae.1	-	3	983	c.755C>T	c.(754-756)tCc>tTc	p.S252F	BCL11A_uc002sab.3_Missense_Mutation_p.S252F|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Intron|BCL11A_uc010ypj.2_Missense_Mutation_p.S218F|BCL11A_uc002sad.1_Missense_Mutation_p.S100F|BCL11A_uc002saf.1_Missense_Mutation_p.S218F	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	252					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TGCCAGGCCGGAAGCCTCTCT	0.567			T	IGH@	B-CLL								A	60689292	G	A	60689292	3	1	144	1	0	0	0	0	1	0	0	0	1368	1174	41	2	1862	2	BCL11A	2	60689292	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	29204737	60689292	182510081	11	9622											
CKAP2L	150468	broad.mit.edu	37	chr2	113514622	113514622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttagagtatgggttagaaGaaacacattctgaagtcagc	14	10	11	6	0	2	4	1	1	1	3	2	4	2	4	0	1	2	3	0	1	6	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:113514622G>A	uc002tie.2	-	3	405	c.326C>T	c.(325-327)tCt>tTt	p.S109F	CKAP2L_uc002tif.2_5'UTR|CKAP2L_uc010yxp.1_5'UTR|CKAP2L_uc010yxq.1_5'UTR	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	109						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGGGTTAGAAGAAACACATTC	0.473													A	113514622	G	A	113514622	3	1	144	1	0	0	0	0	1	0	0	0	3474	942	33	2	1935	2	CKAP2L	2	113514622	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	52825330	113514622	129684751	12	9623											
MARCO	8685	broad.mit.edu	37	chr2	119726837	119726837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgctggtggtccaaGgtaaagcaggcttggtcctg	6	10	16	9	0	0	0	0	0	0	0	2	0	2	0	2	6	2	5	2	6	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:119726837G>T	uc002tln.1	+	2	331	c.199_splice	c.e2+1	p.V67_splice	MARCO_uc010yyf.1_Splice_Site	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	67					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGTGGTCCAAGGTAAAGCAGG	0.612													T	119726837	G	T	119726837	3	4	144	1	0	0	0	0	1	0	0	0	9386	1014	35	4	205	4	MARCO	2	119726837	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	6212215	119726837	123472536	13	9624											
LRP1B	53353	broad.mit.edu	37	chr2	141143511	141143511	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcattttggctatcacaCcgccagtgatcgggaataca	11	10	9	11	2	2	1	2	1	0	0	3	2	2	2	2	2	1	1	2	2	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:141143511C>A	uc002tvj.1	-	66	11454	c.10482G>T	c.(10480-10482)cgG>cgT	p.R3494R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	3494	LDL-receptor class A 25.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCTATCACACCGCCAGTGAT	0.378										TSP Lung(27;0.18)			A	141143511	C	A	141143511	2	1	144	1	0	0	0	0	0	0	0	1	9025	494	18	4		4	LRP1B	2	141143511	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	21416674	141143511	102055862	14	9625											
CSRNP3	80034	broad.mit.edu	37	chr2	166535947	166535947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagcaattcgttgactatgCccgacaagcagaagaggcct	12	7	12	10	2	0	3	0	1	0	2	1	5	0	4	2	2	3	3	2	2	4	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:166535947C>T	uc002udf.3	+	6	1818	c.1442C>T	c.(1441-1443)gCc>gTc	p.A481V	CSRNP3_uc002udg.3_Missense_Mutation_p.A481V	NM_001172173	NP_079245	Q8WYN3	CSRN3_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 3 (CSRNP3), transcript variant 1, mRNA.	481					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						GTTGACTATGCCCGACAAGCA	0.512													T	166535947	C	T	166535947	3	4	144	1	0	0	0	0	1	0	0	0	3998	739	26	2	1456	2	CSRNP3	2	166535947	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	25392436	166535947	76663426	15	9626											
SP5	389058	broad.mit.edu	37	chr2	171573817	171573817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcggcaagcgcttcatgcGcagcgaccacctcgcgaagc	8	5	13	15	6	1	0	1	0	0	0	2	2	1	0	2	1	5	3	2	1	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:171573817G>A	uc002uge.3	+	1	1266	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H		NM_001003845	NP_001003845	Q6BEB4	SP5_HUMAN	Homo sapiens Sp5 transcription factor (SP5), mRNA.	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|lung(1)|prostate(1)	5						CGCTTCATGCGCAGCGACCAC	0.647													A	171573817	G	A	171573817	3	1	144	1	0	0	0	0	1	0	0	0	15061	1087	38	1	1106	1	SP5	2	171573817	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	5037870	171573817	71625556	16	9627											
TTN	7273	broad.mit.edu	37	chr2	179613920	179613920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttccttttctgatctacCaagttttccaaaattatttc	10	20	2	9	0	2	1	0	1	2	0	5	1	4	1	3	0	1	1	3	0	5	9			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:179613920C>A	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G4403C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGATCTACCAAGTTTTCCA	0.328													A	179613920	C	A	179613920	3	1	144	1	0	0	0	0	1	0	0	0	16837	594	21	4	97090	4	TTN	2	179613920	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	8040103	179613920	63585453	17	9628											
SGOL2	151246	broad.mit.edu	37	chr2	201437781	201437781	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaatgaatcaaaaataaaTaagctcaggaataaagtgaa	24	7	6	4	0	2	2	2	2	0	0	2	3	2	3	0	1	1	1	0	1	12	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:201437781T>G	uc002uvw.2	+	6	2825	c.2712T>G	c.(2710-2712)aaT>aaG	p.N904K	SGOL2_uc010zhd.1_Missense_Mutation_p.N904K|SGOL2_uc010zhe.1_Missense_Mutation_p.N904K	NM_152524	NP_689737	Q562F6	SGOL2_HUMAN	Homo sapiens shugoshin-like 2 (S. pombe) (SGOL2), transcript variant 1, mRNA.	904					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding	p.N904Y(1)		NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						CAAAAATAAATAAGCTCAGGA	0.299													G	201437781	T	G	201437781	3	3	144	1	0	0	0	0	1	0	0	0	14310	1403	49	5	2734	5	SGOL2	2	201437781	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	21823861	201437781	41761592	18	9629											
CPS1	1373	broad.mit.edu	37	chr2	211515146	211515146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaattcctagaagaggCgactagagtttctcaggtag	15	9	11	6	1	1	3	1	0	1	3	3	5	2	3	1	2	0	2	1	2	7	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:211515146C>T	uc010fur.3	+	28	3564	c.3482C>T	c.(3481-3483)gCg>gTg	p.A1161V	CPS1_uc002vee.4_Missense_Mutation_p.A1155V|CPS1_uc010fus.3_Missense_Mutation_p.A704V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	1155	ATP-grasp 2.			EH -> AT (in Ref. 1; BAA14328).	carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		CTAGAAGAGGCGACTAGAGTT	0.368													T	211515146	C	T	211515146	3	4	144	1	0	0	0	0	1	0	0	0	3854	768	27	1	3596	1	CPS1	2	211515146	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	10077365	211515146	31684227	19	9630											
UGT1A1	54600	broad.mit.edu	37	chr2	234581022	234581022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttgatgcagtgtttctcGatccttttgataactgtggc	6	18	9	8	1	1	2	0	2	1	0	3	3	2	2	1	1	2	2	1	1	1	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr2:234581022G>A	uc002vus.3	+	0	479	c.442G>A	c.(442-444)Gat>Aat	p.D148N	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Missense_Mutation_p.D148N	NM_021027	NP_066307	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A9 (UGT1A9), mRNA.	151					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.D148N(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	AGTGTTTCTCGATCCTTTTGA	0.373													A	234581022	G	A	234581022	3	1	144	1	0	0	0	0	1	0	0	0	17046	1058	37	1		1	UGT1A1	2	234581022	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	23065876	234581022	8618351	20	9631											
ITPR1	3708	broad.mit.edu	37	chr3	4699832	4699832	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgatcaggacgcctctCgaagtaggttgcggaatgcc	9	8	12	12	3	2	1	1	1	1	0	3	4	2	3	3	3	2	2	3	3	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:4699832C>T	uc003bqc.3	+	11	1326	c.976C>T	c.(976-978)Cga>Tga	p.R326*	ITPR1_uc021wsi.1_Nonsense_Mutation_p.R341*|ITPR1_uc021wsj.1_Nonsense_Mutation_p.R326*|ITPR1_uc011asu.2_Intron	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	341	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGACGCCTCTCGAAGTAGGTT	0.488													T	4699832	C	T	4699832	4	4	144	1	0	0	0	0	0	1	0	0	7978	876	31	1	1063	1	ITPR1	3	4699832	Nonsense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		4699832	193322598	21	9632											
SLC6A6	6533	broad.mit.edu	37	chr3	14513770	14513770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgatgccgctgcccaCattttggtccattctttttt	7	16	7	11	1	1	1	0	1	1	0	2	2	2	1	3	1	2	1	3	1	1	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14513770C>G	uc010heg.3	+	9	1453	c.1154C>G	c.(1153-1155)aCa>aGa	p.T385R	SLC6A6_uc003byq.3_Missense_Mutation_p.T385R|SLC6A6_uc003byr.3_Non-coding_Transcript	NM_001134367	NP_003034	P31641	SC6A6_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, taurine), member 6 (SLC6A6), transcript variant 2, mRNA.	385					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CCGCTGCCCACATTTTGGTCC	0.537													G	14513770	C	G	14513770	3	3	144	1	0	0	0	0	1	0	0	0	14782	478	17	4	1188	4	SLC6A6	3	14513770	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	9813938	14513770	183508660	22	9633											
C3orf20	84077	broad.mit.edu	37	chr3	14799033	14799033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacgtggagctggagcGcttcctgttggcgccccgag	4	9	15	13	4	1	1	0	1	1	0	2	4	2	3	3	3	2	3	3	3	0	2	rs151210868		TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:14799033G>A	uc003byy.3	+	12	2548	c.2096G>A	c.(2095-2097)cGc>cAc	p.R699H	C3orf20_uc003byz.3_Missense_Mutation_p.R577H|C3orf20_uc003bza.3_Missense_Mutation_p.R577H|C3orf20_uc003bzb.1_Missense_Mutation_p.R200H|C3orf20_uc011avj.2_Missense_Mutation_p.R26H	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	699						cytoplasm|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAGCTGGAGCGCTTCCTGTTG	0.627													A	14799033	G	A	14799033	3	1	144	1	0	0	0	0	1	0	0	0	2234	1087	38	1	2138	1	C3orf20	3	14799033	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	285263	14799033	183223397	23	9634											
TTC21A	199223	broad.mit.edu	37	chr3	39156148	39156148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagatcactgtgacttcaGggagcttcctgccagccctc	8	9	9	15	0	2	2	2	1	0	1	4	3	3	3	4	1	3	1	4	1	0	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:39156148G>C	uc003cjc.2	+	5	808	c.631G>C	c.(631-633)Ggg>Cgg	p.G211R	TTC21A_uc003cja.3_Missense_Mutation_p.G211R|TTC21A_uc010hho.2_Missense_Mutation_p.G133R|TTC21A_uc003cjb.3_Missense_Mutation_p.R77T|TTC21A_uc011ayx.1_Missense_Mutation_p.G170R|TTC21A_uc003cjd.2_Non-coding_Transcript	NM_145755	NP_665698	Q8NDW8	TT21A_HUMAN	Homo sapiens tetratricopeptide repeat domain 21A (TTC21A), transcript variant 2, mRNA.	211							binding	p.G211G(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGTGACTTCAGGGAGCTTCCT	0.552													C	39156148	G	C	39156148	3	2	144	1	0	0	0	0	1	0	0	0	16789	1000	35	4	653	4	TTC21A	3	39156148	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	24357115	39156148	158866282	24	9635											
CACNA2D2	9254	broad.mit.edu	37	chr3	50416395	50416395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtgacgtcatagttatgCtgccccacggagaaagtaaa	12	9	12	8	2	1	2	1	1	0	1	1	3	1	2	2	2	2	3	2	2	5	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:50416395C>T	uc003daq.3	-	12	1328	c.1290G>A	c.(1288-1290)caG>caA	p.Q430Q	CACNA2D2_uc003dap.3_Silent_p.Q430Q	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	430	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CATAGTTATGCTGCCCCACGG	0.587													T	50416395	C	T	50416395	2	4	144	1	0	0	0	0	0	0	0	1	2575	796	28	2		2	CACNA2D2	3	50416395	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	11260247	50416395	147606035	25	9636											
ACOX2	8309	broad.mit.edu	37	chr3	58520774	58520774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctctcgctctctatgtcGgggtgcatttgcctgctcca	4	14	9	14	2	2	0	0	0	2	0	6	0	3	0	3	2	4	3	3	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:58520774G>A	uc003dkl.3	-	1	235	c.60C>T	c.(58-60)ccC>ccT	p.P20P		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	20					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTATGTCGGGGTGCATTT	0.552													A	58520774	G	A	58520774	2	1	144	1	0	0	0	0	0	0	0	1	159	1103	39	1		1	ACOX2	3	58520774	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	8104379	58520774	139501656	26	9637											
KLF15	28999	broad.mit.edu	37	chr3	126071173	126071173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcacctcctgcactggcaCcacctggtggaggggaacag	8	5	15	13	0	0	0	0	0	0	0	1	2	1	2	4	6	2	3	4	6	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:126071173C>G	uc011bkk.1	-	1	775	c.593G>C	c.(592-594)gGt>gCt	p.G198A		NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN	Homo sapiens Kruppel-like factor 15 (KLF15), mRNA.	198						nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TGCACTGGCACCACCTGGTGG	0.662													G	126071173	C	G	126071173	3	3	144	1	0	0	0	0	1	0	0	0	8401	507	18	4	665	4	KLF15	3	126071173	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	67550399	126071173	71951257	27	9638											
COL6A6	131873	broad.mit.edu	37	chr3	130325803	130325803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcagaaggggacatacagGcccacaggtacaatgatttt	13	8	12	8	0	0	2	0	1	0	1	0	3	0	3	1	5	2	2	1	5	4	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:130325803G>A	uc010htl.3	+	19	4713	c.4682G>A	c.(4681-4683)gGc>gAc	p.G1561D	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1561	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GGACATACAGGCCCACAGGTA	0.353													A	130325803	G	A	130325803	3	1	144	1	0	0	0	0	1	0	0	0	3734	1203	42	2	4760	2	COL6A6	3	130325803	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	4254630	130325803	67696627	28	9639											
CPB1	1360	broad.mit.edu	37	chr3	148562321	148562321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctcgacaagttagaCttttatgtcctgcctgtgct	7	15	9	10	1	1	1	0	0	1	1	3	3	2	1	2	0	3	3	2	0	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:148562321C>A	uc003ewl.3	+	6	656	c.633C>A	c.(631-633)gaC>gaA	p.D211E		NM_001871	NP_001862	P15086	CBPB1_HUMAN	Homo sapiens carboxypeptidase B1 (tissue) (CPB1), mRNA.	211					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			ACAAGTTAGACTTTTATGTCC	0.413													A	148562321	C	A	148562321	3	1	144	1	0	0	0	0	1	0	0	0	3827	564	20	4	659	4	CPB1	3	148562321	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	18236518	148562321	49460109	29	9640											
SLC7A14	57709	broad.mit.edu	37	chr3	170198876	170198876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcaagctgaccaacagtgCgaggagcgctgccaggaacc	11	5	12	13	2	1	1	1	1	1	0	2	4	1	3	3	2	6	2	3	2	3	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr3:170198876C>A	uc003fgz.2	-	6	1511	c.1195G>T	c.(1195-1197)Gca>Tca	p.A399S	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	399						integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			ACCAACAGTGCGAGGAGCGCT	0.592													A	170198876	C	A	170198876	3	1	144	1	0	0	0	0	1	0	0	0	14790	768	27	4	1128	4	SLC7A14	3	170198876	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	21636555	170198876	27823554	30	9641											
EGF	1950	broad.mit.edu	37	chr4	110915953	110915953	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtaagaaatagtgactcTgaatgtcccctgtcccacga	11	10	8	12	2	1	3	0	2	1	1	4	4	4	3	4	0	0	1	4	0	4	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr4:110915953T>C	uc003hzy.4	+	19	3374	c.2922T>C	c.(2920-2922)tcT>tcC	p.S974S	EGF_uc011cfu.2_Silent_p.S932S|EGF_uc011cfv.2_Silent_p.S933S|EGF_uc010imk.3_Silent_p.S122S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	974	EGF-like 9.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ATAGTGACTCTGAATGTCCCC	0.438													C	110915953	T	C	110915953	2	2	144	1	0	0	0	0	0	0	0	1	5001	1567	55	3		3	EGF	4	110915953	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08		110915953	80238323	31	9642											
PRDM9	56979	broad.mit.edu	37	chr5	23522495	23522495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaagaggtcagcgagccGcaggatgatgattacctctg	12	8	12	9	2	2	3	1	2	1	1	2	5	2	4	2	2	4	1	2	2	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:23522495G>A	uc003jgo.3	+	6	773	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	197					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.E196K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCAGCGAGCCGCAGGATGATG	0.443										HNSCC(3;0.000094)			A	23522495	G	A	23522495	2	1	144	1	0	0	0	0	0	0	0	1	12549	1074	38	1		1	PRDM9	5	23522495	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		23522495	157392765	32	9643											
NDUFAF2	91942	broad.mit.edu	37	chr5	60368982	60368982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagagaaaagaattgtagAagcagcaaataaaaaagaag	23	5	10	3	1	0	4	0	0	0	4	1	6	0	4	0	0	2	3	0	0	10	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:60368982A>G	uc003jsp.4	+	1	285	c.158A>G	c.(157-159)gAa>gGa	p.E53G	NDUFAF2_uc003jso.4_Intron	NM_174889	NP_777549	Q8N183	MIMIT_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2 (NDUFAF2), nuclear gene encoding mitochondrial protein, mRNA.	53						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				AGAATTGTAGAAGCAGCAAAT	0.323													G	60368982	A	G	60368982	3	3	144	1	0	0	0	0	1	0	0	0	10351	246	9	3	164	3	NDUFAF2	5	60368982	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	36846487	60368982	120546278	33	9644											
PCDHAC2	56143	broad.mit.edu	37	chr5	140202989	140202989	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgacgcgggcgtgccgccTctgggcagcaacgtgacgct	5	5	16	15	8	1	1	0	1	1	0	1	2	1	1	2	2	3	3	2	2	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140202989T>A	uc003lhl.2	+	0	1629	c.1629T>A	c.(1627-1629)ccT>ccA	p.P543P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.P543P|PCDHAC2_uc003lhj.1_Silent_p.P543P	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	558	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTGCCGCCTCTGGGCAGCA	0.701													A	140202989	T	A	140202989	2	1	144	1	0	0	0	0	0	0	0	1	11609	1538	54	5		5	PCDHAC2	5	140202989	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	79834007	140202989	40712271	34	9645											
PCDHGC5	26025	broad.mit.edu	37	chr5	140810930	140810930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaaacgcgccctggacCgcgaagaaaaggctgctcac	11	5	12	13	4	1	2	1	1	0	1	1	4	1	3	2	2	3	3	2	2	4	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:140810930C>T	uc003lkt.2	+	0	773	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Missense_Mutation_p.R202C	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	202	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAAGAAAA	0.627													T	140810930	C	T	140810930	3	4	144	1	0	0	0	0	1	0	0	0	11647	652	23	1		1	PCDHGC5	5	140810930	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	607941	140810930	40104330	35	9646											
HAVCR1	26762	broad.mit.edu	37	chr5	156476070	156476070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgtgtaagagtacaatgGtgagctggtgggttctctcc	7	14	14	6	0	1	2	0	1	1	1	3	2	2	2	1	3	2	5	1	3	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:156476070G>A	uc010jij.1	-	4	945	c.760C>T	c.(760-762)Cca>Tca	p.P254S	HAVCR1_uc011ddl.1_Missense_Mutation_p.P85S|HAVCR1_uc003lwi.2_Missense_Mutation_p.P254S|HAVCR1_uc021ygj.1_Missense_Mutation_p.P254S|HAVCR1_uc021ygk.1_Missense_Mutation_p.P85S	NM_001099414	NP_036338	Q96D42	HAVR1_HUMAN	Homo sapiens hepatitis A virus cellular receptor 1 (HAVCR1), transcript variant 2, mRNA.	249					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGTACAATGGTGAGCTGGTG	0.478													A	156476070	G	A	156476070	3	1	144	1	0	0	0	0	1	0	0	0	7028	1261	44	2	354	2	HAVCR1	5	156476070	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	15665140	156476070	24439190	36	9647											
SLIT3	6586	broad.mit.edu	37	chr5	168100307	168100307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcaccagctccacactgTgaaactgcccatcattcact	10	9	6	16	1	3	1	3	1	0	0	4	1	4	1	3	0	3	1	3	0	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr5:168100307T>C	uc010jjg.3	-	32	4157	c.3737A>G	c.(3736-3738)cAc>cGc	p.H1246R	SLIT3_uc003mab.3_Missense_Mutation_p.H1239R	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1239	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCCACACTGTGAAACTGCCC	0.567													C	168100307	T	C	168100307	3	2	144	1	0	0	0	0	1	0	0	0	14835	1696	59	3	871	3	SLIT3	5	168100307	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	11624237	168100307	12814953	37	9648											
BTBD9	114781	broad.mit.edu	37	chr6	38256182	38256182	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatttcggctccgactGactccttcaatcacactggc	9	10	8	14	2	2	1	2	1	0	0	5	2	4	1	2	3	0	2	2	3	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:38256182G>T	uc003ooa.4	-	8	1896	c.1320C>A	c.(1318-1320)gtC>gtA	p.V440V	BTBD9_uc010jwv.3_Silent_p.V410V|BTBD9_uc003ony.4_Silent_p.V372V|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.V440V	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	440					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						GGCTCCGACTGACTCCTTCAA	0.463													T	38256182	G	T	38256182	2	4	144	1	0	0	0	0	0	0	0	1	1558	1277	45	4		4	BTBD9	6	38256182	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		38256182	132858885	38	9649											
SLC29A1	2030	broad.mit.edu	37	chr6	44198124	44198124	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcctgtttggtctggcTggccttctgcctgccagcta	3	12	13	13	0	2	0	0	0	2	0	2	0	2	0	4	4	4	4	4	4	1	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:44198124T>C	uc003oww.1	+	6	924	c.732T>C	c.(730-732)gcT>gcC	p.A244A	SLC29A1_uc011dvp.1_3'UTR|SLC29A1_uc003owu.1_Silent_p.A165A|SLC29A1_uc003owv.1_Silent_p.A165A|SLC29A1_uc011dvq.1_3'UTR|SLC29A1_uc003owx.1_Silent_p.A165A|SLC29A1_uc003owy.1_Silent_p.A165A|SLC29A1_uc003owz.1_Silent_p.A165A	NM_004955	NP_004946	Q99808	S29A1_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 1 (SLC29A1), nuclear gene encoding mitochondrial protein, transcript variant 5, mRNA.	165					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|basolateral plasma membrane|integral to plasma membrane|membrane fraction	nucleoside transmembrane transporter activity|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	17	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		Troglitazone(DB00197)	TTGGTCTGGCTGGCCTTCTGC	0.627													C	44198124	T	C	44198124	2	2	144	1	0	0	0	0	0	0	0	1	14628	1567	55	3		3	SLC29A1	6	44198124	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	5941942	44198124	126916943	39	9650											
IMPG1	3617	broad.mit.edu	37	chr6	76744406	76744406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcaaagaggcagaaggTctcctgctggcagatgctga	12	8	13	8	0	2	4	1	1	1	3	3	4	2	4	1	3	2	4	1	3	3	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:76744406T>C	uc003pik.1	-	2	530	c.400A>G	c.(400-402)Acc>Gcc	p.T134A		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	134					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGGCAGAAGGTCTCCTGCTGG	0.498													C	76744406	T	C	76744406	3	2	144	1	0	0	0	0	1	0	0	0	7786	1667	58	3	2053	3	IMPG1	6	76744406	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	32546282	76744406	94370661	40	9651											
IL22RA2	116379	broad.mit.edu	37	chr6	137482860	137482860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaaactgatgaggaaGcctagaaagcaatgtttagg	17	7	13	4	0	0	4	0	2	0	2	0	6	0	6	1	3	3	2	1	3	7	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:137482860G>A	uc003qhl.3	-	1	328	c.27C>T	c.(25-27)ggC>ggT	p.G9G	IL22RA2_uc003qhn.3_Silent_p.G9G|IL22RA2_uc003qhm.3_Silent_p.G9G	NM_052962	NP_443194	Q969J5	I22R2_HUMAN	Homo sapiens interleukin 22 receptor, alpha 2 (IL22RA2), transcript variant 1, mRNA.	9					regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	interleukin-22 receptor activity			endometrium(1)|large_intestine(1)|lung(3)	5	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000313)|OV - Ovarian serous cystadenocarcinoma(155;0.00407)		TGATGAGGAAGCCTAGAAAGC	0.413													A	137482860	G	A	137482860	2	1	144	1	0	0	0	0	0	0	0	1	7732	958	34	2		2	IL22RA2	6	137482860	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	60738454	137482860	33632207	41	9652											
EZR	7430	broad.mit.edu	37	chr6	159239121	159239121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcaacttactggtttcGgcattttcggtttctggtga	5	16	12	8	2	1	1	0	1	1	0	3	1	1	1	0	5	2	4	0	5	2	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr6:159239121G>A	uc003qrt.4	-	0	220	c.5C>T	c.(4-6)cCg>cTg	p.P2L	EZR_uc011efs.2_Missense_Mutation_p.P2L|EZR_uc003qru.4_Missense_Mutation_p.P2L	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	2	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TACTGGTTTCGGCATTTTCGG	0.577			T	ROS1	NSCLC								A	159239121	G	A	159239121	3	1	144	1	0	0	0	0	1	0	0	0	5377	1116	39	1	1807	1	EZR	6	159239121	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	21756261	159239121	11875946	42	9653											
DNAH11	8701	broad.mit.edu	37	chr7	21657267	21657267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaacaaggaagtccgcGtctgggatgcttacacgggc	10	7	12	12	3	2	0	1	0	1	0	3	2	3	2	1	3	3	1	1	3	4	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:21657267G>A	uc003svc.3	+	22	4172	c.4141G>A	c.(4141-4143)Gtc>Atc	p.V1381I		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1381	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.V1381F(2)|p.V1381I(2)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGAAGTCCGCGTCTGGGATGC	0.483									Kartagener syndrome				A	21657267	G	A	21657267	3	1	144	1	0	0	0	0	1	0	0	0	4638	1145	40	1	4231	1	DNAH11	7	21657267	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		21657267	137481396	43	9654											
CALN1	83698	broad.mit.edu	37	chr7	71275406	71275406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttctcaatgtccttcatCgttaggtggtctcggaaggc	7	14	11	9	2	3	0	2	0	2	0	7	1	4	1	1	4	0	2	1	4	3	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:71275406C>T	uc003twb.4	-	5	964	c.573G>A	c.(571-573)acG>acA	p.T191T	CALN1_uc003twa.4_Silent_p.T149T|CALN1_uc003twc.4_Silent_p.T149T	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	149						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.T149T(1)|p.R190Q(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				TGTCCTTCATCGTTAGGTGGT	0.463													T	71275406	C	T	71275406	2	4	144	1	0	0	0	0	0	0	0	1	2617	871	31	1		1	CALN1	7	71275406	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	49618139	71275406	87863257	44	9655											
PMPCB	9512	broad.mit.edu	37	chr7	102937947	102937947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtgttgtcatccgcggCgcggcggcggctctggggtt	2	10	19	10	6	2	0	1	0	1	0	3	0	3	0	1	7	0	3	1	7	0	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:102937947C>A	uc003vbk.1	+	0	75	c.41C>A	c.(40-42)gCg>gAg	p.A14E	PMPCB_uc010liu.1_Missense_Mutation_p.A14E|PMPCB_uc003vbl.3_Missense_Mutation_p.A14E|PMPCB_uc011kll.1_5'UTR|PMPCB_uc011klm.1_5'Flank	NM_004279	NP_004270	O75439	MPPB_HUMAN	Homo sapiens peptidase (mitochondrial processing) beta (PMPCB), nuclear gene encoding mitochondrial protein, mRNA.	14					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCCGCGGCGCGGCGGCGG	0.652											OREG0018240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	102937947	C	A	102937947	3	1	144	1	0	0	0	0	1	0	0	0	12218	768	27	4	43	4	PMPCB	7	102937947	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	31662541	102937947	56200716	45	9656											
WEE2	494551	broad.mit.edu	37	chr7	141429401	141429401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgacactggggtctctGggacccacacaggatcaaga	11	7	13	10	0	2	2	1	1	1	1	3	4	2	4	1	5	0	0	1	5	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:141429401G>A	uc003vwn.2	+	10	2012	c.1606G>A	c.(1606-1608)Ggg>Agg	p.G536R	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	536					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity	p.G536G(1)		breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					TGGGGTCTCTGGGACCCACAC	0.522													A	141429401	G	A	141429401	3	1	144	1	0	0	0	0	1	0	0	0	17447	1348	47	2	1648	2	WEE2	7	141429401	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	38491454	141429401	17709262	46	9657											
GIMAP8	155038	broad.mit.edu	37	chr7	150171495	150171495	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattctttgagtacatgAtcatacttcttaccaggaaa	16	13	5	7	0	3	2	1	2	2	0	3	3	3	3	1	1	3	1	1	1	6	6			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr7:150171495A>G	uc003whj.3	+	3	1408	c.1078A>G	c.(1078-1080)Atc>Gtc	p.I360V		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	360						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGAGTACATGATCATACTTCT	0.403													G	150171495	A	G	150171495	3	3	144	1	0	0	0	0	1	0	0	0	6441	333	12	3	1088	3	GIMAP8	7	150171495	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	8742094	150171495	8967168	47	9658											
PTDSS1	9791	broad.mit.edu	37	chr8	97296348	97296348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tatctgcaggtccgttcactCgacctcatccagccttatgg	7	12	8	14	2	3	0	2	0	1	0	6	1	5	0	4	2	2	2	4	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr8:97296348C>G	uc003yht.1	+	2	385	c.283C>G	c.(283-285)Cga>Gga	p.R95G	PTDSS1_uc003yhu.1_Intron	NM_014754	NP_055569	P48651	PTSS1_HUMAN	Homo sapiens phosphatidylserine synthase 1 (PTDSS1), mRNA.	95					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	TCCGTTCACTCGACCTCATCC	0.353													G	97296348	C	G	97296348	3	3	144	1	0	0	0	0	1	0	0	0	12821	876	31	4	293	4	PTDSS1	8	97296348	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		97296348	49067674	48	9659											
HSD17B3	3293	broad.mit.edu	37	chr9	99064323	99064323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaatctcacgcacttcgCcaggcaggccaggcacacca	11	4	11	15	2	1	1	1	0	1	1	3	2	1	1	3	4	0	3	3	4	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:99064323C>T	uc004awa.1	-	0	112	c.64G>A	c.(64-66)Gcg>Acg	p.A22T	HSD17B3_uc010msc.1_Missense_Mutation_p.A22T	NM_000197	NP_000188	P37058	DHB3_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 3 (HSD17B3), mRNA.	22					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	ACGCACTTCGCCAGGCAGGCC	0.547													T	99064323	C	T	99064323	3	4	144	1	0	0	0	0	1	0	0	0	7440	739	26	2	912	2	HSD17B3	9	99064323	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		99064323	42149108	49	9660											
UCK1	83549	broad.mit.edu	37	chr9	134400596	134400596	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgtgctgcacgatcAggttgatggcaactgcgcca	8	9	13	11	2	1	1	1	1	0	0	1	3	1	2	2	3	4	4	2	3	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr9:134400596A>G	uc004cay.3	-	6	766	c.665T>C	c.(664-666)cTg>cCg	p.L222P	UCK1_uc010mzk.3_Missense_Mutation_p.L213P|UCK1_uc004cba.3_Silent_p.P190P|UCK1_uc004caz.3_Non-coding_Transcript	NM_031432	NP_113620	Q9HA47	UCK1_HUMAN	Homo sapiens uridine-cytidine kinase 1 (UCK1), transcript variant 1, mRNA.	222					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CTGCACGATCAGGTTGATGGC	0.597													G	134400596	A	G	134400596	3	3	144	1	0	0	0	0	1	0	0	0	17025	188	7	3	172	3	UCK1	9	134400596	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	35336273	134400596	6812835	50	9661											
SFTPD	6441	broad.mit.edu	37	chr10	81701253	81701253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctggacttccctggggacCcatggctccagcagaccctg	7	7	11	16	0	0	1	0	0	0	1	2	3	2	3	5	4	1	2	5	4	0	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr10:81701253C>T	uc001kbh.3	-	5	611	c.568G>A	c.(568-570)Ggt>Agt	p.G190S		NM_003019	NP_003010	P35247	SFTPD_HUMAN	Homo sapiens surfactant protein D (SFTPD), mRNA.	190	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCTGGGGACCCATGGCTCCA	0.507													T	81701253	C	T	81701253	3	4	144	1	0	0	0	0	1	0	0	0	14286	623	22	2	571	2	SFTPD	10	81701253	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08		81701253	53833494	51	9662											
MUC5B	727897	broad.mit.edu	37	chr11	1270908	1270908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcatccactggatccacGgccaccccgtcctccacccc	7	6	6	22	2	0	0	0	0	0	0	4	1	4	1	9	2	1	1	9	2	0	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:1270908G>A	uc001lta.3	+	30	12857	c.12798G>A	c.(12796-12798)acG>acA	p.T4266T		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	4266	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGGATCCACGGCCACCCCGT	0.647													A	1270908	G	A	1270908	2	1	144	1	0	0	0	0	0	0	0	1	10055	1103	39	1		1	MUC5B	11	1270908	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		1270908	133735608	52	9663											
OR52A1	23538	broad.mit.edu	37	chr11	5172692	5172692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatttttaccacatgaatgCgaatctgtgtggtctttgca	10	15	8	8	1	2	1	0	1	2	0	2	2	2	1	1	1	3	1	1	1	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:5172692C>T	uc010qyy.2	-	0	908	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_012375	NP_036507	Q9UKL2	O52A1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily A, member 1 (OR52A1), mRNA.	303					sensory perception of smell	integral to plasma membrane	olfactory receptor activity	p.R303C(1)		breast(2)|endometrium(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	19		Medulloblastoma(188;0.00106)|Breast(177;0.0155)|all_neural(188;0.0189)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACATGAATGCGAATCTGTGT	0.358													T	5172692	C	T	5172692	3	4	144	1	0	0	0	0	1	0	0	0	11184	768	27	1	32	1	OR52A1	11	5172692	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	3901784	5172692	129833824	53	9664											
PDE3B	5140	broad.mit.edu	37	chr11	14825558	14825558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaagcaaaggtcatcttCtgtatcactgactcaccatg	11	10	7	13	1	5	1	3	1	2	0	5	2	5	1	2	1	1	2	2	1	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:14825558C>A	uc001mln.3	+	4	1837	c.1484C>A	c.(1483-1485)tCt>tAt	p.S495Y	PDE3B_uc010rcr.2_Missense_Mutation_p.S444Y	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	495					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						AGGTCATCTTCTGTATCACTG	0.358													A	14825558	C	A	14825558	3	1	144	1	0	0	0	0	1	0	0	0	11714	913	32	4	1502	4	PDE3B	11	14825558	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	9652866	14825558	120180958	54	9665											
OR4A47	403253	broad.mit.edu	37	chr11	48511019	48511019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcttgcactctttaaagaaCcttagtcagaaagggaggca	14	10	9	8	0	3	2	1	0	2	2	3	3	3	3	1	2	2	2	1	2	5	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:48511019C>A	uc010rhx.2	+	0	675	c.675C>A	c.(673-675)aaC>aaA	p.N225K		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						CTTTAAAGAACCTTAGTCAGA	0.438													A	48511019	C	A	48511019	3	1	144	1	0	0	0	0	1	0	0	0	11118	506	18	4	677	4	OR4A47	11	48511019	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	33685461	48511019	86495497	55	9666											
OR4A5	81318	broad.mit.edu	37	chr11	51412194	51412194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtggaatatgcagcatCtataaatgacaggcaggcaa	15	8	12	6	0	1	1	0	1	1	0	1	2	1	2	0	4	2	5	0	4	7	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:51412194C>A	uc001nhi.2	-	0	255	c.202G>T	c.(202-204)Gat>Tat	p.D68Y		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TATGCAGCATCTATAAATGAC	0.438													A	51412194	C	A	51412194	3	1	144	1	0	0	0	0	1	0	0	0	11119	913	32	4	749	4	OR4A5	11	51412194	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	2901175	51412194	83594322	56	9667											
OR8I2	120586	broad.mit.edu	37	chr11	55861592	55861592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcatcgctgacccaggCgcaggtggcatctgtattct	8	10	10	13	2	3	1	1	1	2	0	4	1	3	1	1	3	0	4	1	3	1	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:55861592C>T	uc010rix.2	+	0	809	c.809C>T	c.(808-810)gCg>gTg	p.A270V		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A270A(15)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					CTGACCCAGGCGCAGGTGGCA	0.453													T	55861592	C	T	55861592	3	4	144	1	0	0	0	0	1	0	0	0	11316	768	27	1	811	1	OR8I2	11	55861592	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	4449398	55861592	79144924	57	9668											
FAT3	120114	broad.mit.edu	37	chr11	92532113	92532113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaaagaagccatggacagCggcctccactttacacaaag	14	7	9	11	1	0	1	0	0	0	1	1	2	1	2	3	2	3	1	3	2	5	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr11:92532113C>T	uc001pdj.4	+	8	5951	c.5934C>T	c.(5932-5934)agC>agT	p.S1978S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1978	Cadherin 17.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCATGGACAGCGGCCTCCACT	0.433										TCGA Ovarian(4;0.039)			T	92532113	C	T	92532113	2	4	144	1	0	0	0	0	0	0	0	1	5740	767	27	1		1	FAT3	11	92532113	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	36670521	92532113	42474403	58	9669											
CLEC1A	51267	broad.mit.edu	37	chr12	10233990	10233990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtcttgaccagtattGgagagctggtagtactgaaa	11	12	13	5	0	1	3	0	2	1	1	1	4	1	3	1	3	2	4	1	3	4	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:10233990G>T	uc001qxb.3	-	2	321	c.237C>A	c.(235-237)tcC>tcA	p.S79S	CLEC1A_uc001qxd.3_Silent_p.S36S|CLEC1A_uc010sgx.2_Intron	NM_016511	NP_057595	Q8NC01	CLC1A_HUMAN	Homo sapiens C-type lectin domain family 1, member A (CLEC1A), mRNA.	79					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						GACCAGTATTGGAGAGCTGGT	0.383													T	10233990	G	T	10233990	2	4	144	1	0	0	0	0	0	0	0	1	3536	1335	47	4		4	CLEC1A	12	10233990	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		10233990	123617905	59	9670											
PRB1	5542	broad.mit.edu	37	chr12	11506753	11506753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtggtccttgtggttttCctggaggagatcggggactt	4	13	18	6	1	0	1	0	0	0	1	3	4	2	3	2	8	0	1	2	8	0	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:11506753C>A	uc001qzw.1	-	2	321	c.284G>T	c.(283-285)gGa>gTa	p.G95V	PRB1_uc001qzu.1_Missense_Mutation_p.G95V|PRB1_uc001qzv.1_Missense_Mutation_p.G95V	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	95	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele M).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TTGTGGTTTTCCTGGAGGAGA	0.607													A	11506753	C	A	11506753	3	1	144	1	0	0	0	0	1	0	0	0	12528	855	30	4	715	4	PRB1	12	11506753	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	1272763	11506753	122345142	60	9671											
ATP2B1	490	broad.mit.edu	37	chr12	90024361	90024361	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtaaagataattccagtTtgagaatttacacctacagc	16	11	7	7	0	0	2	0	1	0	2	1	3	1	2	2	1	3	2	2	1	7	7			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:90024361T>C	uc001tbh.3	-	4	1030	c.849A>G	c.(847-849)caA>caG	p.Q283Q	ATP2B1_uc001tbg.3_Silent_p.Q283Q	NM_001682	NP_001673	P20020	AT2B1_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 1 (ATP2B1), transcript variant 2, mRNA.	283					ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	45						TAATTCCAGTTTGAGAATTTA	0.328													C	90024361	T	C	90024361	2	2	144	1	0	0	0	0	0	0	0	1	1144	1838	64	3		3	ATP2B1	12	90024361	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	78517608	90024361	43827534	61	9672											
IGF1	3479	broad.mit.edu	37	chr12	102869429	102869429	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctacttactgaaataaAagcccctgtctccacacacg	13	8	7	13	1	1	1	0	1	1	0	2	1	1	1	3	1	3	1	3	1	5	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:102869429A>C	uc001tjp.4	-	1	431	c.212T>G	c.(211-213)tTt>tGt	p.F71C	IGF1_uc001tjn.2_Missense_Mutation_p.F55C|IGF1_uc001tjm.2_Missense_Mutation_p.F71C|IGF1_uc001tjo.2_Missense_Mutation_p.F71C	NM_001111285	NP_001104755	P05019	IGF1_HUMAN	Homo sapiens insulin-like growth factor 1 (somatomedin C) (IGF1), transcript variant 3, mRNA.	71	B.				anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACTGAAATAAAAGCCCCTGTC	0.537													C	102869429	A	C	102869429	3	2	144	1	0	0	0	0	1	0	0	0	7628	14	1	5	451	5	IGF1	12	102869429	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	12845068	102869429	30982466	62	9673											
ANAPC7	51434	broad.mit.edu	37	chr12	110825638	110825638	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagttaggcacggtttGgatcacattcattgtcatgg	9	13	11	8	1	3	0	3	0	0	0	4	1	4	1	1	4	0	3	1	4	2	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:110825638G>A	uc001tqo.2	-	4	683	c.682C>T	c.(682-684)Caa>Taa	p.Q228*	ANAPC7_uc001tqp.4_Nonsense_Mutation_p.Q228*	NM_016238	NP_057322	Q9UJX3	APC7_HUMAN	Homo sapiens anaphase promoting complex subunit 7 (ANAPC7), transcript variant 1, mRNA.	228					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						GGCACGGTTTGGATCACATTC	0.463													A	110825638	G	A	110825638	4	1	144	1	0	0	0	0	0	1	0	0	606	1357	47	2	1149	2	ANAPC7	12	110825638	Nonsense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	7956209	110825638	23026257	63	9674											
PTPN11	5781	broad.mit.edu	37	chr12	112926900	112926900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtcagggatggtccagaCagaagcacagtaccgattta	13	7	13	8	1	1	2	1	0	0	2	2	5	2	3	2	3	2	2	2	3	3	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:112926900C>A	uc001ttx.3	+	12	1900	c.1520C>A	c.(1519-1521)aCa>aAa	p.T507K		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	511	Tyrosine-protein phosphatase.		G -> A (in JMML).|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T507K(4)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						ATGGTCCAGACAGAAGCACAG	0.478			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112926900	C	A	112926900	3	1	144	1	0	0	0	0	1	0	0	0	12866	478	17	4	1570	4	PTPN11	12	112926900	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	2101262	112926900	20924995	64	9675											
RBM19	9904	broad.mit.edu	37	chr12	114383718	114383718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgaatagtgtgttcCagttgtgagagctaagaggc	10	10	13	8	0	0	3	0	2	0	2	1	4	1	3	3	1	1	3	3	1	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:114383718C>A	uc009zwi.2	-	12	1685	c.1541G>T	c.(1540-1542)tGg>tTg	p.W514L	RBM19_uc001tvn.4_Missense_Mutation_p.W514L|RBM19_uc001tvm.3_Missense_Mutation_p.W514L	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	514					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TAGTGTGTTCCAGTTGTGAGA	0.542													A	114383718	C	A	114383718	3	1	144	1	0	0	0	0	1	0	0	0	13209	595	21	4	1389	4	RBM19	12	114383718	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	1456818	114383718	19468177	65	9676											
TCTN2	79867	broad.mit.edu	37	chr12	124175182	124175182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactataccaagaacgagatGgtattatcaatgcgaagata	18	9	8	6	2	1	3	1	0	0	3	1	5	1	3	1	1	4	1	1	1	10	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124175182G>A	uc001ufp.3	+	7	1122	c.994G>A	c.(994-996)Ggt>Agt	p.G332S	TCTN2_uc009zya.3_Missense_Mutation_p.G331S	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	332					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		AGAACGAGATGGTATTATCAA	0.388													A	124175182	G	A	124175182	3	1	144	1	0	0	0	0	1	0	0	0	15823	1348	47	2	1024	2	TCTN2	12	124175182	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	9791464	124175182	9676713	66	9677											
NCOR2	9612	broad.mit.edu	37	chr12	124915195	124915195	+	Frame_Shift_Del	DEL	G	G	-																															ctgcagctcgcgctgcttgcGgatctcagggaactgcttct																										TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr12:124915195delG	uc021rga.1	-	8	1138	c.1021delC	c.(1021-1023)cgcfs	p.R341fs	NCOR2_uc021rgb.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbb.2_Frame_Shift_Del_p.R341fs|NCOR2_uc010tbc.2_Frame_Shift_Del_p.R341fs|NCOR2_uc021rgc.1_Frame_Shift_Del_p.R341fs|NCOR2_uc010tba.2_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugj.1_Frame_Shift_Del_p.R341fs|NCOR2_uc001ugk.1_Frame_Shift_Del_p.R341fs	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	341					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCTGCTTGCGGATCTCAGGG	0.672													-	124915195	G	-	124915195	7	5	144	1	0	1	0	1	0	0	0	0	10312	1116	39	0	6703	0	NCOR2	12	124915195	Frame_Shift_Del	DEL	G	TCGA-14-3476-01B-01D-1353-08	740013	124915195	8936700	67	9678											
HSPH1	10808	broad.mit.edu	37	chr13	31713139	31713139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggagaaaacgacctaccaTtaattcttccaacttgtcaa	14	10	7	10	1	2	1	1	0	1	1	3	3	3	1	3	2	3	0	3	2	6	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:31713139T>A	uc001utl.3	-	14	2363	c.2092A>T	c.(2092-2094)Atg>Ttg	p.M698L	HSPH1_uc001utj.3_Missense_Mutation_p.M696L|HSPH1_uc001utk.3_Missense_Mutation_p.M652L|HSPH1_uc010aaw.3_Missense_Mutation_p.M655L|HSPH1_uc010tds.2_Missense_Mutation_p.M620L	NM_006644	NP_006635	Q92598	HS105_HUMAN	Homo sapiens heat shock 105kDa/110kDa protein 1 (HSPH1), mRNA.	696					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		CGACCTACCATTAATTCTTCC	0.313													A	31713139	T	A	31713139	3	1	144	1	0	0	0	0	1	0	0	0	7489	1493	52	5	506	5	HSPH1	13	31713139	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08		31713139	83456739	68	9679											
CCDC70	83446	broad.mit.edu	37	chr13	52439731	52439731	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagagatgtggactttcCgaggcaagatccatgctttc	10	10	13	8	1	0	2	0	0	0	2	3	6	2	4	2	3	1	2	2	3	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr13:52439731C>T	uc010tgr.1	-	0		c.489G>A			CCDC70_uc001vfu.4_Nonsense_Mutation_p.R73*|CCDC70_uc021rjv.1_Nonsense_Mutation_p.R73*			Q6NSX1	CCD70_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100022601 3' read CCDC70 mRNA.							extracellular region|plasma membrane				breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GTGGACTTTCCGAGGCAAGAT	0.458													T	52439731	C	T	52439731	4	4	144	1	0	0	0	0	0	1	0	0	2871	644	23	1	219	1	CCDC70	13	52439731	Nonsense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	20726592	52439731	62730147	69	9680											
BCL11B	64919	broad.mit.edu	37	chr14	99641920	99641920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctggcggctgcgggggcGgcgtgccgccagggggcatg	2	5	23	11	5	0	0	0	0	0	0	0	0	0	0	2	8	2	3	2	8	0	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr14:99641920G>A	uc001yga.3	-	3	1520	c.1253C>T	c.(1252-1254)cCg>cTg	p.P418L	BCL11B_uc001ygb.3_Missense_Mutation_p.P347L	NM_138576	NP_612808	Q9C0K0	BC11B_HUMAN	Homo sapiens B-cell CLL/lymphoma 11B (zinc finger protein) (BCL11B), transcript variant 1, mRNA.	418						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		CTGCGGGGGCGGCGTGCCGCC	0.687			T	TLX3	T-ALL								A	99641920	G	A	99641920	3	1	144	1	0	0	0	0	1	0	0	0	1369	1116	39	1	1435	1	BCL11B	14	99641920	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		99641920	7707620	70	9681											
GABRB3	2562	broad.mit.edu	37	chr15	26828530	26828530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagggggtatctcctgaGgtccatcatgcatgctgctg	6	11	13	11	0	2	1	1	1	1	0	5	1	4	1	3	3	3	4	3	3	1	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:26828530G>A	uc001zbb.3	-	5	764	c.661C>T	c.(661-663)Ctc>Ttc	p.L221F	GABRB3_uc021sgg.1_Missense_Mutation_p.L94F|GABRB3_uc021sgh.1_Missense_Mutation_p.L80F|GABRB3_uc001zaz.3_Missense_Mutation_p.L165F|GABRB3_uc001zba.3_Missense_Mutation_p.L165F	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	165					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TATCTCCTGAGGTCCATCATG	0.453													A	26828530	G	A	26828530	3	1	144	1	0	0	0	0	1	0	0	0	6220	1000	35	2	948	2	GABRB3	15	26828530	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		26828530	75702862	71	9682											
ZNF770	54989	broad.mit.edu	37	chr15	35274803	35274803	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagtggattattctcctcaGattcaccaatctcaccattt	11	14	4	12	0	4	1	3	0	2	1	6	2	4	2	3	1	0	0	3	1	3	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:35274803G>C	uc001ziw.3	-	2	1187	c.833C>G	c.(832-834)tCt>tGt	p.S278C	ZNF770_uc021siy.1_Missense_Mutation_p.S278C	NM_014106	NP_054825	Q6IQ21	ZN770_HUMAN	Homo sapiens zinc finger protein 770 (ZNF770), mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S278T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ATTCTCCTCAGATTCACCAAT	0.388													C	35274803	G	C	35274803	3	2	144	1	0	0	0	0	1	0	0	0	18243	942	33	4	1246	4	ZNF770	15	35274803	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	8446273	35274803	67256589	72	9683											
UACA	55075	broad.mit.edu	37	chr15	70957092	70957092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcccacttgtgtaggtgAgttgggaaaggccattgagt	8	12	15	6	0	0	2	0	2	0	0	1	3	1	3	2	4	0	3	2	4	2	5			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr15:70957092A>T	uc002asr.3	-	16	4126	c.4022T>A	c.(4021-4023)cTc>cAc	p.L1341H	UACA_uc010uke.2_Missense_Mutation_p.L1232H|UACA_uc002asq.3_Missense_Mutation_p.L1328H	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1341						cytoskeleton|extracellular region		p.Q1341H(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TGTGTAGGTGAGTTGGGAAAG	0.433													T	70957092	A	T	70957092	3	4	144	1	0	0	0	0	1	0	0	0	16926	304	11	5	240	5	UACA	15	70957092	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08	35682289	70957092	31574300	73	9684											
C16orf45	89927	broad.mit.edu	37	chr16	15609227	15609227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagattgagctggagatgGcaaaaattcagcgtctccgg	12	8	14	7	2	2	3	1	1	1	2	3	5	2	3	1	4	2	2	1	4	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:15609227G>A	uc002ddo.3	+	1	358	c.172G>A	c.(172-174)Gca>Aca	p.A58T	C16orf45_uc002ddp.3_Missense_Mutation_p.A41T	NM_033201	NP_149978	Q96MC5	CP045_HUMAN	Homo sapiens chromosome 16 open reading frame 45 (C16orf45), transcript variant 1, mRNA.	58										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GCTGGAGATGGCAAAAATTCA	0.527													A	15609227	G	A	15609227	3	1	144	1	0	0	0	0	1	0	0	0	1828	1203	42	2	237	2	C16orf45	16	15609227	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		15609227	74745526	74	9685											
ATP2A1	487	broad.mit.edu	37	chr16	28913648	28913648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcatggaccgccccccccGgagccccaaggagcccctca	8	3	9	21	2	2	0	2	0	0	0	2	3	2	3	9	3	2	0	9	3	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr16:28913648G>A	uc002dro.1	+	16	2649	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.R822Q|ATP2A1_uc002drp.1_Missense_Mutation_p.R697Q	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	822					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CGCCCCCCCCGGAGCCCCAAG	0.657													A	28913648	G	A	28913648	3	1	144	1	0	0	0	0	1	0	0	0	1141	1116	39	1	2531	1	ATP2A1	16	28913648	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	13304421	28913648	61441105	75	9686											
DHRS7C	201140	broad.mit.edu	37	chr17	9684903	9684903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacctgtgtggaacacccGagcacactctgtggggaaga	10	6	12	13	1	1	1	0	0	1	1	1	4	1	3	3	3	2	1	3	3	2	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:9684903G>A	uc010vvb.2	-	1	176	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	DHRS7C_uc010cof.3_Missense_Mutation_p.R55W	NM_001220493	NP_001207422	A6NNS2	DRS7C_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 7C (DHRS7C), transcript variant 1, mRNA.	55						extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TGGAACACCCGAGCACACTCT	0.547													A	9684903	G	A	9684903	3	1	144	1	0	0	0	0	1	0	0	0	4536	1057	37	1	792	1	DHRS7C	17	9684903	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		9684903	71510307	76	9687											
MAP2K3	5606	broad.mit.edu	37	chr17	21206533	21206533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgcacagcaagctgtcGgtgatccacagaggtcagtg	10	8	12	11	1	2	2	1	1	1	1	4	2	3	2	1	2	3	3	1	2	1	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:21206533G>A	uc002gys.3	+	6	820	c.555G>A	c.(553-555)tcG>tcA	p.S185S	MAP2K3_uc002gyt.3_Silent_p.S156S|MAP2K3_uc021tsq.1_Silent_p.S156S|MAP2K3_uc021tsr.1_Silent_p.S156S	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	185	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCAAGCTGTCGGTGATCCACA	0.622													A	21206533	G	A	21206533	2	1	144	1	0	0	0	0	0	0	0	1	9313	1103	39	1		1	MAP2K3	17	21206533	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	11521630	21206533	59988677	77	9688											
MYO18A	399687	broad.mit.edu	37	chr17	27422043	27422043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcagcttctcccgctgggCctcctcatgcgcctgcgaga	4	9	11	17	3	2	1	1	0	1	1	4	2	3	1	4	1	4	3	4	1	0	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:27422043C>A	uc002hdt.1	-	28	4578	c.4420G>T	c.(4420-4422)Gcc>Tcc	p.A1474S	MYO18A_uc010wbc.1_Missense_Mutation_p.A1016S|MYO18A_uc002hds.2_Missense_Mutation_p.A1016S|MYO18A_uc010csa.1_Missense_Mutation_p.A1474S|MYO18A_uc002hdu.1_Missense_Mutation_p.A1474S|MYO18A_uc010wbd.1_Missense_Mutation_p.A1143S	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1474					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TCCCGCTGGGCCTCCTCATGC	0.627													A	27422043	C	A	27422043	3	1	144	1	0	0	0	0	1	0	0	0	10141	739	26	4	1800	4	MYO18A	17	27422043	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	6215510	27422043	53773167	78	9689											
IKZF3	22806	broad.mit.edu	37	chr17	37922611	37922611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtctggaccaaggggCgcagggcttcggcgccaaga	7	5	18	11	4	1	1	0	0	1	1	2	2	1	2	2	6	0	2	2	6	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr17:37922611C>T	uc002hsu.3	-	7	1024	c.962G>A	c.(961-963)cGc>cAc	p.R321H	IKZF3_uc002htd.3_Missense_Mutation_p.R287H|IKZF3_uc010cwd.3_Missense_Mutation_p.R178H|IKZF3_uc002hsv.3_Missense_Mutation_p.R248H|IKZF3_uc010cwe.3_Missense_Mutation_p.R187H|IKZF3_uc010cwf.3_Missense_Mutation_p.R139H|IKZF3_uc010cwg.3_Missense_Mutation_p.R100H|IKZF3_uc002hsw.3_Missense_Mutation_p.R282H|IKZF3_uc002hsx.3_Missense_Mutation_p.R265H|IKZF3_uc002hsy.3_Missense_Mutation_p.R282H|IKZF3_uc002hsz.3_Missense_Mutation_p.R226H|IKZF3_uc002hta.3_Missense_Mutation_p.R243H|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.R234H|IKZF3_uc002htc.3_Missense_Mutation_p.R74H|IKZF3_uc010wel.2_Missense_Mutation_p.R74H	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	321				R -> C (in Ref. 1; AAF13493 and 2; CAC80427/CAC80428/CAC80429/CAC80430/ CAC80431).	B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			GACCAAGGGGCGCAGGGCTTC	0.547													T	37922611	C	T	37922611	3	4	144	1	0	0	0	0	1	0	0	0	7674	768	27	1	571	1	IKZF3	17	37922611	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	10500568	37922611	43272599	79	9690											
APCDD1	147495	broad.mit.edu	37	chr18	10471619	10471619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccaattttattatggcaGcaaccggtgcacaaatccca	13	10	6	12	1	0	0	0	0	0	0	1	0	1	0	3	2	4	3	3	2	6	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr18:10471619G>A	uc002kom.4	+	2	689	c.335G>A	c.(334-336)aGc>aAc	p.S112N		NM_153000	NP_694545	Q8J025	APCD1_HUMAN	Homo sapiens adenomatosis polyposis coli down-regulated 1 (APCDD1), mRNA.	112					hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		TATTATGGCAGCAACCGGTGC	0.532													A	10471619	G	A	10471619	3	1	144	1	0	0	0	0	1	0	0	0	767	971	34	2	345	2	APCDD1	18	10471619	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08		10471619	67605629	80	9691											
MUC16	94025	broad.mit.edu	37	chr19	9084743	9084743	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagctcatttgttttccGtgcgtcaaggatatctgagg	7	13	14	7	2	3	1	2	1	1	0	4	3	4	3	1	4	2	2	1	4	2	4			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:9084743G>T	uc002mkp.3	-	0	7276	c.7072C>A	c.(7072-7074)Cgg>Agg	p.R2358R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2358	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.R2358P(1)|p.R2358L(1)		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						TTTGTTTTCCGTGCGTCAAGG	0.433													T	9084743	G	T	9084743	2	4	144	1	0	0	0	0	0	0	0	1	10049	1144	40	4		4	MUC16	19	9084743	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08		9084743	50044240	81	9692											
SMARCA4	6597	broad.mit.edu	37	chr19	11136160	11136160	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcggaagatctgcaaccaCccctacatgttccagcacat	11	8	7	15	1	1	1	0	0	1	1	2	2	2	2	4	1	5	3	4	1	3	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:11136160C>T	uc010dxp.3	+	22	3504	c.3144C>T	c.(3142-3144)caC>caT	p.H1048H	SMARCA4_uc010dxo.3_Silent_p.H1048H|SMARCA4_uc002mqf.4_Silent_p.H1048H|SMARCA4_uc002mqg.1_Silent_p.H1048H|SMARCA4_uc010dxq.3_Silent_p.H1048H|SMARCA4_uc010dxr.3_Silent_p.H1048H|SMARCA4_uc002mqj.4_Silent_p.H1048H|SMARCA4_uc010dxs.3_Silent_p.H1048H|SMARCA4_uc010dxt.1_Silent_p.H268H|SMARCA4_uc002mqh.4_Silent_p.H171H|SMARCA4_uc002mqi.1_Silent_p.H251H	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	1048					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCTGCAACCACCCCTACATGT	0.617			"F, N, Mis"		NSCLC								T	11136160	C	T	11136160	2	4	144	1	0	0	0	0	0	0	0	1	14864	506	18	2		2	SMARCA4	19	11136160	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	2051417	11136160	47992823	82	9693											
CCDC8	83987	broad.mit.edu	37	chr19	46915568	46915568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacgcggcggcgggcaggcGgcgcgctgggctgcttctcc	2	6	19	14	7	1	1	0	1	1	0	2	1	1	1	1	6	1	4	1	6	0	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:46915568G>A	uc002pep.3	-	0	1352	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	167						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCGGGCAGGCGGCGCGCTGGG	0.647													A	46915568	G	A	46915568	3	1	144	1	0	0	0	0	1	0	0	0	2881	1116	39	1	1120	1	CCDC8	19	46915568	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	35779408	46915568	12213415	83	9694											
PRKCG	5582	broad.mit.edu	37	chr19	54401216	54401216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttctcctttccacagcggGtgcggatgggcccctcttcc	3	12	10	16	2	2	0	0	0	2	0	5	1	4	1	5	3	2	0	5	3	0	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:54401216G>A	uc002qcq.1	+	9	1225	c.943G>A	c.(943-945)Gtg>Atg	p.V315M	PRKCG_uc010yef.1_Silent_p.G285G|PRKCG_uc010yeg.1_Missense_Mutation_p.V315M|PRKCG_uc010yeh.1_Missense_Mutation_p.V202M	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	315				RVRM -> VSRT (in Ref. 3; AAA60102).	activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		TCCACAGCGGGTGCGGATGGG	0.582													A	54401216	G	A	54401216	3	1	144	1	0	0	0	0	1	0	0	0	12598	1261	44	2	981	2	PRKCG	19	54401216	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	7485648	54401216	4727767	84	9695											
KIR3DL2	3811	broad.mit.edu	37	chr19	55378070	55378070	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtcgcccttctcagaggCccaagacacccctaacagat	11	7	7	16	1	2	3	2	0	1	3	4	3	2	3	4	1	1	0	4	1	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55378070C>A	uc002qhl.4	+	8	1315	c.1252C>A	c.(1252-1254)Ccc>Acc	p.P418T	KIR3DL2_uc002qho.4_Missense_Mutation_p.P418T|KIR3DL2_uc010esh.3_Missense_Mutation_p.P401T			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	418					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TTCTCAGAGGCCCAAGACACC	0.522													A	55378070	C	A	55378070	3	1	144	1	0	0	0	0	1	0	0	0	8379	739	26	4	1286	4	KIR3DL2	19	55378070	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	976854	55378070	3750913	85	9696											
NLRP7	199713	broad.mit.edu	37	chr19	55451740	55451740	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggtttctcagagtgacGtcgtcatggaaattgtcaat	9	14	11	7	3	3	2	3	1	1	1	5	3	3	3	0	2	0	2	0	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:55451740G>A	uc002qih.4	-	3	523	c.447C>T	c.(445-447)gaC>gaT	p.D149D	NLRP7_uc010esk.3_Silent_p.D149D|NLRP7_uc002qig.4_Silent_p.D149D|NLRP7_uc002qii.4_Silent_p.D149D|NLRP7_uc010esl.3_Silent_p.D177D	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	149							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAGAGTGACGTCGTCATGGA	0.498													A	55451740	G	A	55451740	2	1	144	1	0	0	0	0	0	0	0	1	10558	1136	40	1		1	NLRP7	19	55451740	Silent	SNP	G	TCGA-14-3476-01B-01D-1353-08	73670	55451740	3677243	86	9697											
NLRP4	147945	broad.mit.edu	37	chr19	56382210	56382210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttggctttctgccaccTcagcgagcagtgctgcgaat	7	11	12	11	2	2	0	1	0	1	0	2	2	2	0	2	2	5	4	2	2	2	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr19:56382210T>C	uc002qmd.4	+	6	2794	c.2372T>C	c.(2371-2373)cTc>cCc	p.L791P	NLRP4_uc002qmf.3_Missense_Mutation_p.L716P|NLRP4_uc010etf.3_Missense_Mutation_p.L566P	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	791							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGCCACCTCAGCGAGCAG	0.498													C	56382210	T	C	56382210	3	2	144	1	0	0	0	0	1	0	0	0	10555	1551	54	3	2394	3	NLRP4	19	56382210	Missense_Mutation	SNP	T	TCGA-14-3476-01B-01D-1353-08	930470	56382210	2746773	87	9698											
SLC7A4	6545	broad.mit.edu	37	chr22	21384419	21384419	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actggtggccacgaatgtgtAggccaggagtgtgccaaggg	9	7	17	8	1	0	0	0	0	0	0	0	2	0	1	3	5	1	1	3	5	3	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:21384419A>G	uc002zud.3	-	2	1272	c.1204T>C	c.(1204-1206)Tac>Cac	p.Y402H	SLC7A4_uc002zue.3_Missense_Mutation_p.Y402H	NM_004173	NP_004164	O43246	CTR4_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 4 (SLC7A4), mRNA.	402					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACGAATGTGTAGGCCAGGAGT	0.657													G	21384419	A	G	21384419	3	3	144	1	0	0	0	0	1	0	0	0	14793	420	15	3	715	3	SLC7A4	22	21384419	Missense_Mutation	SNP	A	TCGA-14-3476-01B-01D-1353-08		21384419	29920147	88	9699											
RRP7A	27341	broad.mit.edu	37	chr22	42910784	42910784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtagtcactgatccaCtctgaggaaaagggagccag	11	8	12	10	1	3	2	1	2	2	0	4	4	4	4	2	2	2	1	2	2	3	1	rs146741450	by1000genomes	TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:42910784C>T	uc003bcp.3	-	3	1024	c.530_splice	c.e3-1	p.K177_splice	RRP7A_uc003bcq.3_Splice_Site_p.K154_splice	NM_015703	NP_056518	Q9Y3A4	RRP7A_HUMAN	Homo sapiens ribosomal RNA processing 7 homolog A (S. cerevisiae) (RRP7A), mRNA.	154							nucleotide binding|RNA binding	p.K154K(1)		central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						CACTGATCCACTCTGAGGAAA	0.602													T	42910784	C	T	42910784	2	4	144	1	0	0	0	0	0	0	0	1	13780	579	20	2		2	RRP7A	22	42910784	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08	21526365	42910784	8393782	89	9700											
MOV10L1	54456	broad.mit.edu	37	chr22	50596619	50596619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgacattggcgtcatcaCgccctaccggaagcaggtac	10	6	11	14	4	2	0	2	0	0	0	2	2	2	1	2	3	4	2	2	3	3	3			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chr22:50596619C>T	uc003bjj.3	+	22	3283	c.3200C>T	c.(3199-3201)aCg>aTg	p.T1067M	MOV10L1_uc003bjk.4_Missense_Mutation_p.T1067M|MOV10L1_uc011arp.2_Missense_Mutation_p.T1047M|MOV10L1_uc003bjl.3_Missense_Mutation_p.T194M|MOV10L1_uc003bjm.1_Missense_Mutation_p.T110M	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1067					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GGCGTCATCACGCCCTACCGG	0.657													T	50596619	C	T	50596619	3	4	144	1	0	0	0	0	1	0	0	0	9795	536	19	1	3343	1	MOV10L1	22	50596619	Missense_Mutation	SNP	C	TCGA-14-3476-01B-01D-1353-08	7685835	50596619	707947	90	9701											
SHROOM2	357	broad.mit.edu	37	chrX	9905429	9905429	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcccagccggctgagccCcagcccctgggcacccaggt	6	3	14	18	1	0	1	0	1	0	0	0	1	0	1	7	4	3	2	7	4	0	0			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:9905429C>T	uc004csu.1	+	6	3933	c.3843C>T	c.(3841-3843)ccC>ccT	p.P1281P	SHROOM2_uc004csv.2_Silent_p.P116P|SHROOM2_uc011mic.1_Silent_p.P116P|SHROOM2_uc004csw.1_Silent_p.P116P	NM_001649	NP_001640	Q13796	SHRM2_HUMAN	Homo sapiens shroom family member 2 (SHROOM2), mRNA.	1281					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGGCTGAGCCCCAGCCCCTGG	0.642													T	9905429	C	T	9905429	2	4	144	1	0	0	0	0	0	0	0	1	14388	610	22	2		2	SHROOM2	23	9905429	Silent	SNP	C	TCGA-14-3476-01B-01D-1353-08		9905429	145365131	91	9702											
SRPX	8406	broad.mit.edu	37	chrX	38009054	38009054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggttgaacagggccacAggcatcaccagggagacata	14	5	12	10	0	2	2	2	1	0	1	2	3	2	2	2	4	1	2	2	4	2	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:38009054A>G	uc004ddy.2	-	9	1437	c.1305T>C	c.(1303-1305)ccT>ccC	p.P435P	SRPX_uc011mki.2_3'UTR|SRPX_uc004ddz.2_Silent_p.P415P|SRPX_uc011mkh.2_Silent_p.P376P	NM_006307	NP_006298	P78539	SRPX_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked (SRPX), transcript variant 1, mRNA.	435					cell adhesion	cell surface|membrane				autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						ACAGGGCCACAGGCATCACCA	0.502													G	38009054	A	G	38009054	2	3	144	1	0	0	0	0	0	0	0	1	15260	175	7	3		3	SRPX	23	38009054	Silent	SNP	A	TCGA-14-3476-01B-01D-1353-08	28103625	38009054	117261506	92	9703											
WDR45	11152	broad.mit.edu	37	chrX	48935362	48935362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggccagaaggttggagcGgtgcagcatctccaccaagc	11	5	13	12	1	1	1	0	0	1	1	2	2	1	2	3	4	4	3	3	4	3	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:48935362G>A	uc004dml.1	-	3	347	c.175C>T	c.(175-177)Cgc>Tgc	p.R59C	WDR45_uc011mmt.2_Intron|WDR45_uc004dmj.1_Missense_Mutation_p.R9C|WDR45_uc004dmk.1_Missense_Mutation_p.R59C|WDR45_uc004dmn.1_5'UTR|WDR45_uc004dmp.1_Missense_Mutation_p.R59C|WDR45_uc011mmu.2_Missense_Mutation_p.R59C	NM_007075	NP_009006	Q9Y484	WIPI4_HUMAN	Homo sapiens WD repeat domain 45 (WDR45), transcript variant 1, mRNA.	59					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						AGGTTGGAGCGGTGCAGCATC	0.607													A	48935362	G	A	48935362	3	1	144	1	0	0	0	0	1	0	0	0	17399	1116	39	1	942	1	WDR45	23	48935362	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	10926308	48935362	106335198	93	9704											
OPN1LW	5956	broad.mit.edu	37	chrX	153416186	153416186	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgtaccacctcaccagTgtctggatgatctttgtggt	6	14	12	9	0	3	1	1	1	2	0	3	2	3	2	3	3	1	1	3	3	1	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153416186T>C	uc004fjz.4	+	1	204	c.171T>C	c.(169-171)agT>agC	p.S57S		NM_020061	NP_064445	P04000	OPSR_HUMAN	Homo sapiens opsin 1 (cone pigments), long-wave-sensitive (OPN1LW), mRNA.	57					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACCTCACCAGTGTCTGGATGA	0.587													C	153416186	T	C	153416186	2	2	144	1	0	0	0	0	0	0	0	1	10953	1693	59	3		3	OPN1LW	23	153416186	Silent	SNP	T	TCGA-14-3476-01B-01D-1353-08	104480824	153416186	1854374	94	9705											
RPL10	6134	broad.mit.edu	37	chrX	153628824	153628824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaaacaggcatgcgaGgtgcctttggaaagccccag	10	6	13	12	1	0	0	0	0	0	0	1	2	1	1	4	4	4	2	4	4	2	1			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:153628824G>A	uc004fkm.2	+	5	537	c.349G>A	c.(349-351)Ggt>Agt	p.G117S	AK307233_uc010nuv.2_5'Flank|RPL10_uc004fko.2_Intron|RPL10_uc004fkn.1_Missense_Mutation_p.G117S|RPL10_uc004fkq.1_Intron|RPL10_uc004fkr.1_Missense_Mutation_p.G42S|RPL10_uc022cif.1_5'Flank	NM_006013	NP_006004	P27635	RL10_HUMAN	Homo sapiens ribosomal protein L10 (RPL10), transcript variant 1, mRNA.	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGCATGCGAGGTGCCTTTGG	0.527													A	153628824	G	A	153628824	3	1	144	1	0	0	0	0	1	0	0	0	13645	1000	35	2	367	2	RPL10	23	153628824	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	212638	153628824	1641736	95	9706											
VAMP7	6845	broad.mit.edu	37	chrX	155130194	155130194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataagggcctagacaaaGtgatggagactcaagcccaa	17	5	11	8	0	1	4	1	1	0	3	1	5	1	4	2	2	1	0	2	2	6	2			TCGA-14-3476-01B-01D-1353-08	TCGA-14-3476-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37f51be9-2c41-476e-b153-c5c0a52c3d2f	03da9810-f78d-4eec-bd34-20fc79a57fd6	g.chrX:155130194G>T	uc004fnr.3	+	4	554	c.376G>T	c.(376-378)Gtg>Ttg	p.V126L	VAMP7_uc011naa.2_Missense_Mutation_p.V87L|VAMP7_uc011nab.2_Missense_Mutation_p.V25L|VAMP7_uc004fnt.3_Missense_Mutation_p.V85L|VAMP7_uc004fns.3_Missense_Mutation_p.V126L|VAMP7_uc011nac.2_Missense_Mutation_p.V59L	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	126	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTAGACAAAGTGATGGAGAC	0.358													T	155130194	G	T	155130194	3	4	144	1	0	0	0	0	1	0	0	0	17219	1029	36	4	390	4	VAMP7	23	155130194	Missense_Mutation	SNP	G	TCGA-14-3476-01B-01D-1353-08	1501370	155130194	140366	96	9707											
HSPG2	3339	broad.mit.edu	37	chr1	22211272	22211272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtacctcgttgtgggaCgagctcaaggacaccgtcag	9	7	14	11	3	2	0	2	0	0	0	3	3	2	2	2	3	2	4	2	3	2	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:22211272C>T	uc009vqd.3	-	11	1535	c.1495G>A	c.(1495-1497)Gtc>Atc	p.V499I	HSPG2_uc001bfj.3_Missense_Mutation_p.V499I	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	499	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTTGTGGGACGAGCTCAAGG	0.667													T	22211272	C	T	22211272	3	4	145	1	0	0	0	0	1	0	0	0	7488	536	19	1	12024	1	HSPG2	1	22211272	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		22211272	227039349	1	9708											
DAB1	1600	broad.mit.edu	37	chr1	57535043	57535043	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttatacctgataaatgTtttcttccgtttcgggatca	10	18	6	7	2	2	1	1	1	1	0	4	2	3	2	2	1	1	2	2	1	5	8			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:57535043T>A	uc009vzx.1	-	7	973	c.653A>T	c.(652-654)aAc>aTc	p.N218I	DAB1_uc001cyt.1_Missense_Mutation_p.N218I|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Missense_Mutation_p.N218I	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	218					cell differentiation|nervous system development			p.E217*(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTGATAAATGTTTTCTTCCGT	0.423													A	57535043	T	A	57535043	3	1	145	1	0	0	0	0	1	0	0	0	4251	1725	60	5	1042	5	DAB1	1	57535043	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	35323771	57535043	191715578	2	9709											
GBP2	2634	broad.mit.edu	37	chr1	89575480	89575482	+	In_Frame_Del	DEL	CTC	CTC	-																															ttctctttctgttccatcatCtcctcattcttcttttgtat																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:89575480_89575482delCTC	uc001dmz.1	-	9	1808_1810	c.1537_1539delGAG	c.(1537-1539)gagdel	p.E513del	GBP2_uc001dmy.1_Non-coding_Transcript	NM_004120	NP_004111	P32456	GBP2_HUMAN	Homo sapiens guanylate binding protein 2, interferon-inducible (GBP2), mRNA.	513					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		GTTCCATCATCTCCTCATTCTTC	0.404													-	89575482	CTC	-	89575480	7	5	145	1	0	1	0	1	0	0	0	0	6328	912	32	0	244	0	GBP2	1	89575480	In_Frame_Del	DEL	CTC	TCGA-14-4157-01A-01D-1353-08	32040437	89575480	159675141	3	9710											
DCLRE1B	64858	broad.mit.edu	37	chr1	114448263	114448263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggacttctggagcctgCgccgggctggcaccgcacgt	5	7	15	14	4	1	0	0	0	1	0	1	2	1	2	3	4	2	3	3	4	0	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:114448263C>T	uc001eeg.3	+	0	349	c.55C>T	c.(55-57)Cgc>Tgc	p.R19C	AP4B1_uc001eeb.3_5'Flank|AP4B1_uc001eec.3_5'Flank|AP4B1_uc010owp.2_5'Flank|AP4B1_uc001eed.3_5'Flank|AP4B1_uc010owq.2_5'Flank|DCLRE1B_uc001eeh.3_5'UTR|DCLRE1B_uc001eei.3_5'UTR	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	19					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGGAGCCTGCGCCGGGCTGG	0.642								Other identified genes with known or suspected DNA repair function					T	114448263	C	T	114448263	3	4	145	1	0	0	0	0	1	0	0	0	4329	768	27	1	57	1	DCLRE1B	1	114448263	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	24872783	114448263	134802358	4	9711											
CASQ2	845	broad.mit.edu	37	chr1	116247851	116247851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgatccacaggatgctcaGatcggggttgtcagtattgt	8	12	13	8	2	2	1	2	0	0	1	5	3	3	2	1	3	1	3	1	3	1	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:116247851G>C	uc001efx.4	-	8	1165	c.901C>G	c.(901-903)Ctg>Gtg	p.L301V	CASQ2_uc010owu.2_Missense_Mutation_p.L230V	NM_001232	NP_001223	O14958	CASQ2_HUMAN	Homo sapiens calsequestrin 2 (cardiac muscle) (CASQ2), nuclear gene encoding mitochondrial protein, mRNA.	301					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AGGATGCTCAGATCGGGGTTG	0.547													C	116247851	G	C	116247851	3	2	145	1	0	0	0	0	1	0	0	0	2707	933	33	4	310	4	CASQ2	1	116247851	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	1799588	116247851	133002770	5	9712											
PRSS38	339501	broad.mit.edu	37	chr1	228004940	228004940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaaaatctatgacatgtaCgtaggcctcgtaaacctcag	14	10	7	10	2	3	1	2	1	1	0	4	1	3	1	2	1	2	3	2	1	7	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:228004940C>T	uc001hrh.3	+	2	342	c.342C>T	c.(340-342)taC>taT	p.Y114Y		NM_183062	NP_898885	A1L453	PRS38_HUMAN	Homo sapiens protease, serine, 38 (PRSS38), mRNA.	114	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ATGACATGTACGTAGGCCTCG	0.562													T	228004940	C	T	228004940	2	4	145	1	0	0	0	0	0	0	0	1	12712	547	19	1		1	PRSS38	1	228004940	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	111757089	228004940	21245681	6	9713											
LYST	1130	broad.mit.edu	37	chr1	235866238	235866238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctagcgctcgtctctgaaCtggatcttcaactgcagaga	9	12	9	11	2	4	2	1	1	3	1	6	4	4	3	0	1	4	2	0	1	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:235866238C>T	uc001hxj.2	-	44	10358	c.10183G>A	c.(10183-10185)Gtt>Att	p.V3395I	LYST_uc001hxi.2_Missense_Mutation_p.V619I	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	3395	BEACH.				defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CGTCTCTGAACTGGATCTTCA	0.448													T	235866238	C	T	235866238	3	4	145	1	0	0	0	0	1	0	0	0	9199	565	20	2	1258	2	LYST	1	235866238	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	7861298	235866238	13384383	7	9714											
HEATR1	55127	broad.mit.edu	37	chr1	236749663	236749663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaccataaatggcagcaaaCatacaaccacctgatttgac	17	8	5	11	0	0	2	0	2	0	0	0	2	0	2	3	1	5	2	3	1	6	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr1:236749663C>A	uc001hyd.2	-	14	1957	c.1805G>T	c.(1804-1806)tGt>tTt	p.C602F		NM_018072	NP_060542	Q9H583	HEAT1_HUMAN	Homo sapiens HEAT repeat containing 1 (HEATR1), mRNA.	602					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGGCAGCAAACATACAACCAC	0.358													A	236749663	C	A	236749663	3	1	145	1	0	0	0	0	1	0	0	0	7082	478	17	4	4753	4	HEATR1	1	236749663	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	883425	236749663	12500958	8	9715											
FOSL2	2355	broad.mit.edu	37	chr2	28635026	28635026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccctggaagaggacagccCctcgtcctcgtcggcggggc	5	5	15	16	4	0	1	0	0	0	1	4	3	1	3	5	5	1	0	5	5	1	0			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:28635026C>T	uc002rma.3	+	3	1501	c.692C>T	c.(691-693)cCc>cTc	p.P231L	FOSL2_uc021vfg.1_Missense_Mutation_p.P223L|FOSL2_uc010ymi.2_Missense_Mutation_p.P192L	NM_005253	NP_005244	P15408	FOSL2_HUMAN	Homo sapiens FOS-like antigen 2 (FOSL2), mRNA.	231					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					GAGGACAGCCCCTCGTCCTCG	0.692													T	28635026	C	T	28635026	3	4	145	1	0	0	0	0	1	0	0	0	6037	623	22	2	706	2	FOSL2	2	28635026	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		28635026	214564347	9	9716											
THADA	63892	broad.mit.edu	37	chr2	43520122	43520122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttccagtgttagtgagcGcacttcagggaaggcagatt	9	10	14	8	1	1	2	1	1	0	1	2	3	2	3	1	3	1	4	1	3	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:43520122G>A	uc002rsw.4	-	31	5021	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C	THADA_uc010far.3_Missense_Mutation_p.R752C|THADA_uc002rsx.4_Missense_Mutation_p.R1557C|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1557							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GTTAGTGAGCGCACTTCAGGG	0.557													A	43520122	G	A	43520122	3	1	145	1	0	0	0	0	1	0	0	0	15940	1087	38	1	1220	1	THADA	2	43520122	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	14885096	43520122	199679251	10	9717											
FSHR	2492	broad.mit.edu	37	chr2	49190747	49190747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgcagagatcagcaaaggCcaggttgcacataaggaacc	16	5	11	9	0	1	1	1	0	0	1	1	3	1	2	2	3	4	4	2	3	4	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:49190747C>T	uc002rww.3	-	9	1323	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	FSHR_uc010fbn.3_Missense_Mutation_p.A379T|FSHR_uc002rwx.3_Missense_Mutation_p.A343T	NM_000145	NP_000136	P23945	FSHR_HUMAN	Homo sapiens follicle stimulating hormone receptor (FSHR), transcript variant 1, mRNA.	405					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TCAGCAAAGGCCAGGTTGCAC	0.458									Gonadal Dysgenesis, 46 XX				T	49190747	C	T	49190747	3	4	145	1	0	0	0	0	1	0	0	0	6125	739	26	2	878	2	FSHR	2	49190747	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	5670625	49190747	194008626	11	9718											
CTNNA2	1496	broad.mit.edu	37	chr2	80085194	80085194	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgacccttgctcgtcggtAaagcgcggcaccatggtacg	8	8	13	12	5	0	1	0	1	0	0	2	2	0	1	2	3	3	4	2	3	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:80085194A>C	uc010ysh.2	+	2	359	c.354A>C	c.(352-354)gtA>gtC	p.V118V	CTNNA2_uc010yse.2_Silent_p.V118V|CTNNA2_uc010ysf.2_Silent_p.V118V|CTNNA2_uc010ysg.2_Silent_p.V118V	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	118					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTCGTCGGTAAAGCGCGGCA	0.582													C	80085194	A	C	80085194	2	2	145	1	0	0	0	0	0	0	0	1	4046	349	13	5		5	CTNNA2	2	80085194	Silent	SNP	A	TCGA-14-4157-01A-01D-1353-08	30894447	80085194	163114179	12	9719											
SLC9A2	6549	broad.mit.edu	37	chr2	103274233	103274233	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccattctttgagaacattgGcacgattttctggtatgctg	8	15	9	9	1	2	1	0	1	2	1	2	3	2	1	1	2	2	3	1	2	2	6			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:103274233G>C	uc002tca.3	+	1	642	c.500G>C	c.(499-501)gGc>gCc	p.G167A		NM_003048	NP_003039	Q9UBY0	SL9A2_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 2 (SLC9A2), mRNA.	167						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity	p.I166I(1)		breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAGAACATTGGCACGATTTTC	0.493													C	103274233	G	C	103274233	3	2	145	1	0	0	0	0	1	0	0	0	14806	1203	42	4	506	4	SLC9A2	2	103274233	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	23189039	103274233	139925140	13	9720											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	145	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	105838879	209113112	34086261	14	9721											
GIGYF2	26058	broad.mit.edu	37	chr2	233613794	233613794	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttacagaagaagaacaggTttgtgattagctctgagccc	12	11	10	8	0	1	5	0	2	1	3	1	5	1	5	1	1	4	2	1	1	5	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr2:233613794T>C	uc002vtj.4	+	6	534	c.267_splice	c.e6+2	p.Q89_splice	GIGYF2_uc010zmj.1_Splice_Site_p.Q89_splice|GIGYF2_uc002vtg.2_Splice_Site_p.Q89_splice|GIGYF2_uc002vti.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vtk.4_Splice_Site_p.Q89_splice|GIGYF2_uc002vth.4_Splice_Site_p.Q89_splice|GIGYF2_uc010zmk.2_Splice_Site	NM_001103147	NP_001096617	Q6Y7W6	PERQ2_HUMAN	Homo sapiens GRB10 interacting GYF protein 2 (GIGYF2), transcript variant 1, mRNA.	89					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAGAACAGGTTTGTGATTAG	0.433													C	233613794	T	C	233613794	5	2	145	1	0	0	0	0	0	0	1	0	6434	1739	60	3	279	3	GIGYF2	2	233613794	Splice_Site	SNP	T	TCGA-14-4157-01A-01D-1353-08	24500682	233613794	9585579	15	9722											
PRKCD	5580	broad.mit.edu	37	chr3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-																															ttgtgatggagttcctcaacGggggggacctgatgtaccac																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													-	53220653	G	-	53220653	7	5	145	1	0	1	0	1	0	0	0	0	12595	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08		53220653	144801777	16	9723											
RAP2B	5912	broad.mit.edu	37	chr3	152880606	152880606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgaagacttttaccgcAaggagattgaggtggactcg	11	9	12	9	3	0	3	0	1	0	2	2	6	0	4	2	3	1	1	2	3	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:152880606A>G	uc003ezr.3	+	0	578	c.124A>G	c.(124-126)Aag>Gag	p.K42E		NM_002886	NP_002877	P61225	RAP2B_HUMAN	Homo sapiens RAP2B, member of RAS oncogene family (RAP2B), mRNA.	42					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			CTTTTACCGCAAGGAGATTGA	0.627													G	152880606	A	G	152880606	3	3	145	1	0	0	0	0	1	0	0	0	13129	131	5	3	126	3	RAP2B	3	152880606	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	99659953	152880606	45141824	17	9724											
MCCC1	56922	broad.mit.edu	37	chr3	182775185	182775185	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagcattgccatggtgatCaccaaacacctggacttcta	12	9	7	13	0	2	1	1	1	1	0	2	2	2	2	3	2	3	1	3	2	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr3:182775185C>G	uc003fle.3	-	7	924	c.787G>C	c.(787-789)Gat>Cat	p.D263H	MCCC1_uc010hxi.3_Non-coding_Transcript|MCCC1_uc011bqo.2_Non-coding_Transcript|MCCC1_uc003flf.3_Missense_Mutation_p.D146H|MCCC1_uc003flg.3_Missense_Mutation_p.D154H|MCCC1_uc011bqp.1_Missense_Mutation_p.D216H|MCCC1_uc011bqq.1_Missense_Mutation_p.D154H	NM_020166	NP_064551	Q96RQ3	MCCA_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 1 (alpha) (MCCC1), nuclear gene encoding mitochondrial protein, mRNA.	263	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCATGGTGATCACCAAACACC	0.413													G	182775185	C	G	182775185	3	3	145	1	0	0	0	0	1	0	0	0	9449	826	29	4	1438	4	MCCC1	3	182775185	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	29894579	182775185	15247245	18	9725											
ZNF718	152687	broad.mit.edu	37	chr4	59387	59387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggaaatgtctggaccCtgcccagcagaatttgtata	12	10	11	8	0	1	2	0	0	1	2	1	4	1	4	2	2	2	2	2	2	4	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:59387C>A	uc003fzv.1	+	1	224	c.68C>A	c.(67-69)cCt>cAt	p.P23H	ZNF718_uc003fzt.4_Missense_Mutation_p.P23H|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_5'UTR|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	23	KRAB.			I -> T (in Ref. 1; AAI04028).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P23H(1)					all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TGTCTGGACCCTGCCCAGCAG	0.423													A	59387	C	A	59387	3	1	145	1	0	0	0	0	1	0	0	0	18221	681	24	4	74	4	ZNF718	4	59387	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		59387	191094889	19	9726											
MTHFD2L	441024	broad.mit.edu	37	chr4	75065528	75065528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaccacgttgatgagcgaAcaatatgcaatggaattgcc	14	8	10	9	2	0	3	0	2	0	1	0	5	0	4	2	1	4	2	2	1	5	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:75065528A>G	uc011cbk.2	+	3	496	c.469A>G	c.(469-471)Aca>Gca	p.T157A	MTHFD2L_uc011cbj.2_Missense_Mutation_p.T99A|MTHFD2L_uc003hhn.1_Missense_Mutation_p.T99A	NM_001144978	NP_001138450	Q9H903	MTD2L_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2-like (MTHFD2L), mRNA.	99					folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process		binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity			central_nervous_system(1)|endometrium(1)|lung(4)|ovary(2)	8			all cancers(17;0.0101)|Lung(101;0.196)			TGATGAGCGAACAATATGCAA	0.328													G	75065528	A	G	75065528	3	3	145	1	0	0	0	0	1	0	0	0	10006	43	2	3	483	3	MTHFD2L	4	75065528	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	75006141	75065528	116088748	20	9727											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367366	184367366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagcaggaaaacagttcaAcgtgtatagggtcggccatc	12	8	11	10	2	2	0	2	0	0	0	4	1	2	1	1	3	3	3	1	3	5	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr4:184367366A>G	uc003ivp.1	+	2	691	c.529A>G	c.(529-531)Acg>Gcg	p.T177A	CDKN2AIP_uc003ivq.1_5'UTR	NM_017632	NP_060102	Q9NXV6	CARF_HUMAN	Homo sapiens CDKN2A interacting protein (CDKN2AIP), mRNA.	177	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding	p.T177T(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		AAACAGTTCAACGTGTATAGG	0.473													G	184367366	A	G	184367366	3	3	145	1	0	0	0	0	1	0	0	0	3192	43	2	3	539	3	CDKN2AIP	4	184367366	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	109301838	184367366	6786910	21	9728											
TAF7	6879	broad.mit.edu	37	chr5	140698719	140698719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctcttgtcgttttgccCtgtcctgggtctcttggagc	2	16	11	12	1	2	0	0	0	2	0	6	2	4	1	3	2	2	1	3	2	0	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:140698719C>A	uc003ljg.3	-	0	1633	c.893G>T	c.(892-894)aGg>aTg	p.R298M		NM_005642	NP_005633	Q15545	TAF7_HUMAN	Homo sapiens TAF7 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 55kDa (TAF7), mRNA.	298					negative regulation of histone acetylation|negative regulation of protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|spermine transport|transcription initiation from RNA polymerase II promoter	Golgi apparatus|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	histone acetyltransferase binding|thyroid hormone receptor binding|transcription coactivator activity|transcription regulatory region DNA binding|vitamin D receptor binding	p.D297H(2)		central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTTTTGCCCTGTCCTGGGT	0.453													A	140698719	C	A	140698719	3	1	145	1	0	0	0	0	1	0	0	0	15629	681	24	4	160	4	TAF7	5	140698719	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		140698719	40216541	22	9729											
CCNG1	900	broad.mit.edu	37	chr5	162868235	162868235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacttgatgagaatggaaaAgattgtattggagaaggtgt	15	11	14	1	0	0	5	0	2	0	4	0	8	0	6	0	3	0	1	0	3	5	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr5:162868235A>G	uc003lzb.3	+	2	650	c.416A>G	c.(415-417)aAg>aGg	p.K139R	CCNG1_uc011dek.1_Missense_Mutation_p.K3R|CCNG1_uc011del.2_Missense_Mutation_p.K3R|CCNG1_uc003lzc.3_Non-coding_Transcript	NM_199246	NP_954854	P51959	CCNG1_HUMAN	Homo sapiens cyclin G1 (CCNG1), transcript variant 2, mRNA.	139					cell division|mitosis|regulation of cyclin-dependent protein kinase activity	nucleus				autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0597)|OV - Ovarian serous cystadenocarcinoma(192;0.107)|Epithelial(171;0.164)		AGAATGGAAAAGATTGTATTG	0.378													G	162868235	A	G	162868235	3	3	145	1	0	0	0	0	1	0	0	0	2953	72	3	3	422	3	CCNG1	5	162868235	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	22169516	162868235	18047025	23	9730											
OR2J3	442186	broad.mit.edu	37	chr6	29080438	29080438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatctctctttttcattccGgccatgtgcatgtatctcca	6	17	6	12	1	4	0	1	0	3	0	7	0	5	0	3	1	1	3	3	1	2	5			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:29080438G>A	uc011dll.2	+	0	771	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TTTTCATTCCGGCCATGTGCA	0.458													A	29080438	G	A	29080438	2	1	145	1	0	0	0	0	0	0	0	1	11080	1103	39	1		1	OR2J3	6	29080438	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08		29080438	142034629	24	9731											
DNAH8	1769	broad.mit.edu	37	chr6	38783392	38783392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccaccactactgacgTgacccatcaaaacacaggaa	15	4	6	16	1	1	2	1	2	0	0	1	3	1	3	4	1	3	0	4	1	4	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:38783392T>C	uc021yzh.1	+	25	3591	c.3482T>C	c.(3481-3483)gTg>gCg	p.V1161A	DNAH8_uc003ooe.2_Missense_Mutation_p.V944A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTACTGACGTGACCCATCAA	0.448													C	38783392	T	C	38783392	3	2	145	1	0	0	0	0	1	0	0	0	4646	1696	59	3	2917	3	DNAH8	6	38783392	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	9702954	38783392	132331675	25	9732											
CD2AP	23607	broad.mit.edu	37	chr6	47512403	47512403	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaatgaggatgaactGgagctgaaagtgggagatat	16	7	13	5	0	0	4	0	3	0	1	0	7	0	6	1	3	2	1	1	3	5	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:47512403G>A	uc003oyw.3	+	3	837	c.381G>A	c.(379-381)ctG>ctA	p.L127L		NM_012120	NP_036252	Q9Y5K6	CD2AP_HUMAN	Homo sapiens CD2-associated protein (CD2AP), mRNA.	127	Interaction with ANLN and localization to the midbody.|SH3 2.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			AGGATGAACTGGAGCTGAAAG	0.313													A	47512403	G	A	47512403	2	1	145	1	0	0	0	0	0	0	0	1	3024	1335	47	2		2	CD2AP	6	47512403	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	8729011	47512403	123602664	26	9733											
LPA	4018	broad.mit.edu	37	chr6	160977190	160977190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaccatggtagcactgccGgaccacaggggtttgctcag	9	9	12	11	1	1	0	1	0	0	0	1	1	1	1	3	4	4	4	3	4	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr6:160977190G>A	uc003qtl.3	-	30	4960	c.4840C>T	c.(4840-4842)Cgg>Tgg	p.R1614W		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	4122	Kringle 15.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.R1614Q(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TAGCACTGCCGGACCACAGGG	0.463													A	160977190	G	A	160977190	3	1	145	1	0	0	0	0	1	0	0	0	8973	1115	39	1	1322	1	LPA	6	160977190	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	113464787	160977190	10137877	27	9734											
ZNF12	7559	broad.mit.edu	37	chr7	6737438	6737438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtccttgaatgacactGgcccctgaaatggcaccgtg	9	8	10	14	2	0	3	0	3	0	0	1	3	1	3	5	2	0	1	5	2	2	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:6737438G>A	uc003sqt.1	-	2	574	c.20C>T	c.(19-21)cCa>cTa	p.P7L	ZNF12_uc011jxa.1_5'UTR|ZNF12_uc003sqs.1_Missense_Mutation_p.P7L	NM_016265	NP_057349	P17014	ZNF12_HUMAN	Homo sapiens zinc finger protein 12 (ZNF12), transcript variant 1, mRNA.	7					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		GAATGACACTGGCCCCTGAAA	0.493													A	6737438	G	A	6737438	3	1	145	1	0	0	0	0	1	0	0	0	17819	1348	47	2	2085	2	ZNF12	7	6737438	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08		6737438	152401225	28	9735											
POM121C	100101267	broad.mit.edu	37	chr7	75070792	75070792	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctggagttgcgaggggAcagcacagccttcttgtgat	8	10	13	10	1	1	1	0	1	1	0	2	4	2	3	2	3	3	2	2	3	0	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:75070792A>T	uc003udk.4	-	3					POM121C_uc003udl.1_Non-coding_Transcript|POM121C_uc010lde.1_Missense_Mutation_p.S237T	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.						mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						TTGCGAGGGGACAGCACAGCC	0.527													T	75070792	A	T	75070792	3	4	145	1	0	0	0	0	1	0	0	0	12317	290	10	5		5	POM121C	7	75070792	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	68333354	75070792	84067871	29	9736											
TRRAP	8295	broad.mit.edu	37	chr7	98588209	98588209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgcctggttggctcGgagggaaagctgctcttgaa	7	10	13	11	1	2	1	1	1	1	0	3	3	2	3	2	4	3	4	2	4	2	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr7:98588209G>A	uc003upp.3	+	62	9944	c.9735G>A	c.(9733-9735)tcG>tcA	p.S3245S	TRRAP_uc011kis.2_Silent_p.S3216S|TRRAP_uc003upr.3_Silent_p.S2933S	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3245	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGTTGGCTCGGAGGGAAAGC	0.527													A	98588209	G	A	98588209	2	1	145	1	0	0	0	0	0	0	0	1	16702	1103	39	1		1	TRRAP	7	98588209	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	23517417	98588209	60550454	30	9737											
RP1	6101	broad.mit.edu	37	chr8	55537403	55537403	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgaagatgatattgagAaatcaattatttttaatcaa	16	16	5	4	0	3	4	2	3	1	2	3	5	3	4	0	0	0	0	0	0	7	7			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:55537403A>G	uc003xsd.1	+	3	1109	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	321					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGATATTGAGAAATCAATTAT	0.323													G	55537403	A	G	55537403	3	3	145	1	0	0	0	0	1	0	0	0	13623	247	9	3	971	3	RP1	8	55537403	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08		55537403	90826619	31	9738											
ARHGAP39	80728	broad.mit.edu	37	chr8	145758601	145758601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggcgctcggggtagcGctctctctgcatgcccatga	5	9	13	14	3	2	1	0	1	2	0	4	1	2	1	1	3	4	5	1	3	1	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr8:145758601G>A	uc003zds.1	-	9	3352	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ARHGAP39_uc011llk.1_Missense_Mutation_p.R902C|ARHGAP39_uc003zdt.1_Missense_Mutation_p.R902C	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	902	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TCGGGGTAGCGCTCTCTCTGC	0.647													A	145758601	G	A	145758601	3	1	145	1	0	0	0	0	1	0	0	0	887	1087	38	1	563	1	ARHGAP39	8	145758601	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	90221198	145758601	605421	32	9739											
OBP2A	29991	broad.mit.edu	37	chr9	138438640	138438640	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatcacagggacctggtAcgtgaaggccatggtggtcg	9	7	15	10	2	1	2	1	1	0	1	2	3	1	3	3	5	1	1	3	5	2	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr9:138438640A>G	uc004cgc.3	+	1	131	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	OBP2A_uc004cgb.3_Missense_Mutation_p.Y30C|OBP2A_uc010nau.3_Non-coding_Transcript|OBP2A_uc010nav.3_Intron			Q9NY56	OBP2A_HUMAN	Homo sapiens odorant binding protein 2A (OBP2A), mRNA.	30					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity	p.Y30Y(1)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		GGGACCTGGTACGTGAAGGCC	0.607													G	138438640	A	G	138438640	3	3	145	1	0	0	0	0	1	0	0	0	10886	391	14	3	95	3	OBP2A	9	138438640	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08		138438640	2774791	33	9740											
NMT2	9397	broad.mit.edu	37	chr10	15183429	15183429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagagctctcactttcgaagGctgctgaattttaatctcct	9	14	7	11	1	2	2	1	1	2	1	5	3	2	2	1	1	2	3	1	1	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:15183429G>A	uc001inz.1	-	1	322	c.238C>T	c.(238-240)Cct>Tct	p.P80S	NMT2_uc001ioa.1_Silent_p.S52S|NMT2_uc010qbz.1_5'UTR	NM_004808	NP_004799	O60551	NMT2_HUMAN	Homo sapiens N-myristoyltransferase 2 (NMT2), mRNA.	80					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						ACTTTCGAAGGCTGCTGAATT	0.443													A	15183429	G	A	15183429	3	1	145	1	0	0	0	0	1	0	0	0	10580	1203	42	2	1302	2	NMT2	10	15183429	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08		15183429	120351318	34	9741											
MYOZ1	58529	broad.mit.edu	37	chr10	75399754	75399754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcctcttcttattaggggCcggggttcctgagagcggca	5	13	13	10	2	2	1	0	1	2	1	4	2	4	1	3	5	1	2	3	5	2	5			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:75399754C>T	uc001jur.3	-	1	387	c.22G>A	c.(22-24)Gcc>Acc	p.A8T		NM_021245	NP_067068	Q9NP98	MYOZ1_HUMAN	Homo sapiens myozenin 1 (MYOZ1), mRNA.	8					myofibril assembly	nucleus|pseudopodium	FATZ binding			central_nervous_system(1)|large_intestine(5)|lung(2)|ovary(2)|skin(2)	12	Prostate(51;0.0112)					TTATTAGGGGCCGGGGTTCCT	0.542													T	75399754	C	T	75399754	3	4	145	1	0	0	0	0	1	0	0	0	10171	739	26	2	897	2	MYOZ1	10	75399754	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	60216325	75399754	60134993	35	9742											
EBF3	253738	broad.mit.edu	37	chr10	131676050	131676050	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaatctccgcatatcTcgagggttgcctgcattctt	7	13	9	12	2	3	0	0	0	3	0	5	2	3	1	3	2	2	3	3	2	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr10:131676050T>C	uc021qav.1	-	6	677	c.576A>G	c.(574-576)cgA>cgG	p.R192R	EBF3_uc001lki.2_Silent_p.R206R	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	206					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		TCCGCATATCTCGAGGGTTGC	0.368													C	131676050	T	C	131676050	2	2	145	1	0	0	0	0	0	0	0	1	4921	1538	54	3		3	EBF3	10	131676050	Silent	SNP	T	TCGA-14-4157-01A-01D-1353-08	56276296	131676050	3858697	36	9743											
TEAD1	7003	broad.mit.edu	37	chr11	12902599	12902599	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccaggatcctcacaagaGtaagtctgaggaggggtggg	11	6	16	8	0	2	2	1	1	1	1	3	4	3	4	2	5	1	1	2	5	2	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:12902599G>C	uc021qdx.1	+	7	1132	c.512_splice	c.e7+1	p.D171_splice	TEAD1_uc001mkk.4_Splice_Site_p.D75_splice|TEAD1_uc009ygl.3_Splice_Site_p.D50_splice	NM_021961	NP_068780	P28347	TEAD1_HUMAN	Homo sapiens TEA domain family member 1 (SV40 transcriptional enhancer factor) (TEAD1), mRNA.	171	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTCACAAGAGTAAGTCTGAG	0.547													C	12902599	G	C	12902599	5	2	145	1	0	0	0	0	0	0	1	0	15838	1043	36	4	531	4	TEAD1	11	12902599	Splice_Site	SNP	G	TCGA-14-4157-01A-01D-1353-08		12902599	122103917	37	9744											
OR4C15	81309	broad.mit.edu	37	chr11	55322827	55322827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggaataaggaagtaaaaCaggccatgaggagaatatgg	18	6	13	4	0	1	2	1	1	0	1	1	5	1	4	1	5	1	1	1	5	7	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:55322827C>G	uc010rig.2	+	0	1045	c.1045C>G	c.(1045-1047)Cag>Gag	p.Q349E		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GGAAGTAAAACAGGCCATGAG	0.328										HNSCC(20;0.049)			G	55322827	C	G	55322827	3	3	145	1	0	0	0	0	1	0	0	0	11124	479	17	4	1047	4	OR4C15	11	55322827	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	42420228	55322827	79683689	38	9745											
LRFN4	78999	broad.mit.edu	37	chr11	66626230	66626230	+	Frame_Shift_Del	DEL	G	G	-																															ccaacgggaccttagagattGgggtgaccggcgctggggac																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr11:66626230delG	uc001ojr.3	+	0	1355	c.1015delG	c.(1015-1017)gggfs	p.G339fs	PC_uc001ojo.1_Intron|PC_uc001ojp.1_Intron|PC_uc001ojn.1_Intron|LRFN4_uc001ojq.1_Frame_Shift_Del_p.G339fs	NM_024036	NP_076941	Q6PJG9	LRFN4_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 4 (LRFN4), mRNA.	339	Ig-like.					integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTTAGAGATTGGGGTGACCGG	0.677													-	66626230	G	-	66626230	7	5	145	1	0	1	0	1	0	0	0	0	9010	1348	47	0	1017	0	LRFN4	11	66626230	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08	11303403	66626230	68380286	39	9746											
KRT80	144501	broad.mit.edu	37	chr12	52565281	52565281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctttcgggagggggcCttggagaggcctgatctgga	5	12	16	8	1	3	2	0	1	3	1	4	5	3	4	2	6	0	0	2	6	0	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:52565281C>T	uc001rzw.3	-	6	1416	c.1365G>A	c.(1363-1365)aaG>aaA	p.K455K	KRT80_uc001rzy.3_3'UTR|KRT80_uc001rzx.3_Silent_p.K420K	NM_182507	NP_872313	Q6KB66	K2C80_HUMAN	Homo sapiens keratin 80 (KRT80), transcript variant 1, mRNA.	420						keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GGGAGGGGGCCTTGGAGAGGC	0.542													T	52565281	C	T	52565281	2	4	145	1	0	0	0	0	0	0	0	1	8552	680	24	2		2	KRT80	12	52565281	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08		52565281	81286614	40	9747											
LRIG3	121227	broad.mit.edu	37	chr12	59271381	59271381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatcacactgaggcgcacGtttcctctctcagtgccaag	8	9	11	13	2	3	1	2	1	1	0	5	2	4	2	2	2	1	2	2	2	1	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:59271381G>A	uc001sqr.3	-	14	2583	c.2337C>T	c.(2335-2337)aaC>aaT	p.N779N	LRIG3_uc009zqh.3_Silent_p.N719N|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	779	Ig-like C2-type 3.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGAGGCGCACGTTTCCTCTCT	0.532			T	ROS1	NSCLC								A	59271381	G	A	59271381	2	1	145	1	0	0	0	0	0	0	0	1	9016	1136	40	1		1	LRIG3	12	59271381	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08	6706100	59271381	74580514	41	9748											
ANKLE2	23141	broad.mit.edu	37	chr12	133327271	133327272	+	Frame_Shift_Del	DEL	GA	GA	-																															gagtggagctgttttcacagGagacagtggtaaggacgttt																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr12:133327271_133327272delGA	uc001ukx.2	-	2	871_872	c.804_805delTC	c.(802-807)tctcctfs	p.S268fs	ANKLE2_uc001uky.3_Frame_Shift_Del_p.S206fs	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	268						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		GTTTTCACAGGAGACAGTGGTA	0.426													-	133327272	GA	-	133327271	7	5	145	1	0	1	0	1	0	0	0	0	633	1174	41	0	2055	0	ANKLE2	12	133327271	Frame_Shift_Del	DEL	GA	TCGA-14-4157-01A-01D-1353-08	74055890	133327271	524624	42	9749											
C14orf21	161424	broad.mit.edu	37	chr14	24769334	24769334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gattcgcacccgcacctgagCccggaagctctgggatattt	8	9	11	13	3	1	1	0	1	1	0	2	4	1	3	3	2	2	3	3	2	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:24769334C>A	uc001wol.1	+	0	237	c.174C>A	c.(172-174)agC>agA	p.S58R	C14orf21_uc001wom.1_5'Flank|DHRS1_uc001woj.2_5'Flank|DHRS1_uc001wok.3_5'Flank	NM_174913	NP_777573	Q86U38	CN021_HUMAN	Homo sapiens chromosome 14 open reading frame 21 (C14orf21), mRNA.	58							RNA binding	p.S58R(2)		breast(3)|central_nervous_system(2)|large_intestine(3)|liver(1)|lung(3)|prostate(2)|skin(3)	17				GBM - Glioblastoma multiforme(265;0.0185)		CGCACCTGAGCCCGGAAGCTC	0.662													A	24769334	C	A	24769334	3	1	145	1	0	0	0	0	1	0	0	0	1782	738	26	4	176	4	C14orf21	14	24769334	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		24769334	82580206	43	9750											
C14orf101	54916	broad.mit.edu	37	chr14	57075891	57075891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgctgccctatgtccAccttcccatctcatcttacc	5	15	5	16	0	2	0	1	0	2	0	5	0	4	0	5	1	3	2	5	1	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:57075891A>G	uc001xcm.3	+	5	826	c.704A>G	c.(703-705)cAc>cGc	p.H235R	C14orf101_uc001xcj.3_Non-coding_Transcript|C14orf101_uc001xck.3_Missense_Mutation_p.H235R|C14orf101_uc010aot.1_Missense_Mutation_p.H235R|C14orf101_uc001xcl.1_Non-coding_Transcript|C14orf101_uc001xcn.3_Non-coding_Transcript|C14orf101_uc010trf.2_5'UTR	NM_017799	NP_060269	Q9NX78	CN101_HUMAN	Homo sapiens chromosome 14 open reading frame 101 (C14orf101), mRNA.	235						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(311;0.226)		CCCTATGTCCACCTTCCCATC	0.488													G	57075891	A	G	57075891	3	3	145	1	0	0	0	0	1	0	0	0	1747	159	6	3	726	3	C14orf101	14	57075891	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	32306557	57075891	50273649	44	9751											
PAPOLA	10914	broad.mit.edu	37	chr14	96986512	96986512	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttacacagaaactaatTgagacattgaaaccctttgg	15	11	7	8	0	0	3	0	2	0	2	0	4	0	3	1	1	4	1	1	1	5	6			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:96986512T>G	uc001yfq.3	+	1	346	c.129T>G	c.(127-129)atT>atG	p.I43M	PAPOLA_uc001yfp.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfo.3_Missense_Mutation_p.I43M|PAPOLA_uc001yfr.3_Missense_Mutation_p.I43M|PAPOLA_uc010twv.2_Missense_Mutation_p.I43M|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	43					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AGAAACTAATTGAGACATTGA	0.408													G	96986512	T	G	96986512	3	3	145	1	0	0	0	0	1	0	0	0	11505	1800	63	5	135	5	PAPOLA	14	96986512	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	39910621	96986512	10363028	45	9752											
WARS	7453	broad.mit.edu	37	chr14	100808747	100808747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaccttggttttgatCtgcttggccgtgtcggtgag	3	15	13	10	2	2	2	1	2	1	0	3	2	2	2	2	3	2	3	2	3	0	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr14:100808747C>A	uc001yhh.1	-	8	1482	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	WARS_uc001yhi.1_Missense_Mutation_p.Q326H|WARS_uc001yhg.2_Missense_Mutation_p.Q367H|WARS_uc001yhl.1_Missense_Mutation_p.Q367H|WARS_uc001yhk.1_Missense_Mutation_p.Q326H	NM_004184	NP_998811	P23381	SYWC_HUMAN	Homo sapiens tryptophanyl-tRNA synthetase (WARS), transcript variant 1, mRNA.	367					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity	p.Q367H(2)		breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TGGTTTTGATCTGCTTGGCCG	0.622													A	100808747	C	A	100808747	3	1	145	1	0	0	0	0	1	0	0	0	17351	912	32	4	326	4	WARS	14	100808747	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	3822235	100808747	6540793	46	9753											
SPTBN5	51332	broad.mit.edu	37	chr15	42185109	42185109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttggccctgaggaaggCcagagctcggctgctgttct	6	9	13	13	1	1	2	0	1	1	1	2	3	1	3	3	4	2	4	3	4	1	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:42185109C>T	uc001zos.3	-	2	595	c.262G>A	c.(262-264)Gcc>Acc	p.A88T		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	123	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CTGAGGAAGGCCAGAGCTCGG	0.687													T	42185109	C	T	42185109	3	4	145	1	0	0	0	0	1	0	0	0	15218	739	26	2	10921	2	SPTBN5	15	42185109	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		42185109	60346283	47	9754											
PDIA3	2923	broad.mit.edu	37	chr15	44055362	44055362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taactaccgatttgcacataCgaatgttgagtctctggtga	11	13	9	8	2	1	2	0	2	1	0	2	4	1	2	1	1	4	2	1	1	4	5			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:44055362C>T	uc001zsu.3	+	4	708	c.560C>T	c.(559-561)aCg>aTg	p.T187M	PDIA3_uc010bdp.3_Missense_Mutation_p.T167M|PDIA3_uc010ued.2_5'UTR	NM_005313	NP_005304	P30101	PDIA3_HUMAN	Homo sapiens protein disulfide isomerase family A, member 3 (PDIA3), mRNA.	187					cell redox homeostasis|glycerol ether metabolic process|post-translational protein modification|protein folding|protein import into nucleus|protein N-linked glycosylation via asparagine|protein retention in ER lumen|signal transduction	endoplasmic reticulum lumen|melanosome	cysteine-type endopeptidase activity|electron carrier activity|phospholipase C activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(2)|skin(1)	17		all_cancers(109;2.61e-15)|all_epithelial(112;1.12e-12)|Lung NSC(122;2.17e-08)|all_lung(180;2.45e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.48e-07)		TTTGCACATACGAATGTTGAG	0.408													T	44055362	C	T	44055362	3	4	145	1	0	0	0	0	1	0	0	0	11745	536	19	1	578	1	PDIA3	15	44055362	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	1870253	44055362	58476030	48	9755											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84442304	84442304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactcgttcagatgaagaCaaagatggcaactgggatgc	15	7	11	8	1	1	4	1	1	0	3	2	5	1	5	0	2	3	2	0	2	4	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr15:84442304C>T	uc002bjz.4	+	3	443	c.219C>T	c.(217-219)gaC>gaT	p.D73D	ADAMTSL3_uc002bjy.1_Silent_p.D73D|ADAMTSL3_uc010bmt.1_Silent_p.D73D	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	73						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CAGATGAAGACAAAGATGGCA	0.438													T	84442304	C	T	84442304	2	4	145	1	0	0	0	0	0	0	0	1	276	477	17	2		2	ADAMTSL3	15	84442304	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	40386942	84442304	18089088	49	9756											
ZFHX3	463	broad.mit.edu	37	chr16	72831003	72831003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcagagtgactctgggctaTagagagttggttctgctgct	7	12	15	7	0	2	3	0	1	2	2	2	4	2	3	0	3	2	6	0	3	2	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr16:72831003T>C	uc002fck.3	-	8	6251	c.5578A>G	c.(5578-5580)Ata>Gta	p.I1860V	ZFHX3_uc002fcl.3_Missense_Mutation_p.I946V	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	1860					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGGGCTATAGAGAGTTGG	0.532													C	72831003	T	C	72831003	3	2	145	1	0	0	0	0	1	0	0	0	17735	1406	49	3	5541	3	ZFHX3	16	72831003	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08		72831003	17523750	50	9757											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	145	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		7578406	73616804	51	9758											
TP53	7157	broad.mit.edu	37	chr17	7578460	7578460	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatggccatggcgcggAcgcgggtgccgggcgggggt	4	6	22	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:7578460A>C	uc002gim.2	-	4	664	c.470T>G	c.(469-471)gTc>gGc	p.V157G	TP53_uc002gig.1_Missense_Mutation_p.V157G|TP53_uc002gih.3_Missense_Mutation_p.V157G|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V25G|TP53_uc010cnf.1_Missense_Mutation_p.V25G|TP53_uc002gii.1_Missense_Mutation_p.V25G|TP53_uc010cni.1_Missense_Mutation_p.V157G|TP53_uc010cnh.1_Missense_Mutation_p.V157G|TP53_uc002gij.2_Missense_Mutation_p.V157G|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.V64G|TP53_uc002gio.2_Missense_Mutation_p.V25G|TP53_uc010vug.2_Missense_Mutation_p.V118G	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157F(151)|p.R156P(24)|p.V157D(16)|p.V157G(14)|p.R156fs*14(11)|p.V157I(10)|p.R156H(10)|p.0?(8)|p.V157L(6)|p.V157V(5)|p.R156_I162delRVRAMAI(4)|p.V157del(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.R156S(3)|p.R156R(3)|p.R156fs*25(3)|p.R156G(3)|p.R156L(3)|p.V157_C176del20(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156_V157del(2)|p.V157A(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.T155fs*23(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157fs*24(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R156fs*20(2)|p.R156C(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.T155_R156delTR(1)|p.R156_V157insV(1)|p.R156del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.G154_R156delGTR(1)|p.V157fs*23(1)|p.V157fs*25(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)		CATGGCGCGGACGCGGGTGCC	0.617		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)			C	7578460	A	C	7578460	3	2	145	1	0	0	0	0	1	0	0	0	16482	275	10	5	828	5	TP53	17	7578460	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	54	7578460	73616750	52	9759											
ZNF207	7756	broad.mit.edu	37	chr17	30696410	30696410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttggaccaattggaggtAtgatgccaccacagccaggc	11	7	12	11	0	0	1	0	1	0	0	0	3	0	3	4	4	2	2	4	4	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:30696410A>G	uc010csz.3	+	11	1617	c.1270A>G	c.(1270-1272)Atg>Gtg	p.M424V	ZNF207_uc002hhj.4_Missense_Mutation_p.M421V|ZNF207_uc002hhh.4_Missense_Mutation_p.M405V|ZNF207_uc002hhi.4_Missense_Mutation_p.M390V|ZNF207_uc002hhk.1_Missense_Mutation_p.M421V|ZNF207_uc002hhl.1_Non-coding_Transcript			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	405						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AATTGGAGGTATGATGCCACC	0.488													G	30696410	A	G	30696410	3	3	145	1	0	0	0	0	1	0	0	0	17866	449	16	3	1303	3	ZNF207	17	30696410	Missense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	23117950	30696410	50498800	53	9760											
TAF15	8148	broad.mit.edu	37	chr17	34171636	34171636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggagatagaagtgggggcGgctatggtggagacagaagt	11	6	20	4	2	0	4	0	0	0	4	0	6	0	4	0	6	0	1	0	6	4	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:34171636G>A	uc002hkd.3	+	14	1419	c.1333G>A	c.(1333-1335)Ggc>Agc	p.G445S	TAF15_uc002hkc.3_Missense_Mutation_p.G442S	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	445	21 X approximate tandem repeats of D-R- [S,G](0,3)-G-G-Y-G-G.|Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		aagtgggggcggctatggtgg	0.637			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								A	34171636	G	A	34171636	3	1	145	1	0	0	0	0	1	0	0	0	15615	1116	39	1	1391	1	TAF15	17	34171636	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	3475226	34171636	47023574	54	9761											
NR1D1	9572	broad.mit.edu	37	chr17	38253028	38253028	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagtaacaccatgccattCagctctgtggaagagacggg	12	7	11	11	1	2	1	1	0	1	1	2	3	2	2	2	2	3	2	2	2	2	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:38253028C>G	uc002htz.2	-	2	1001	c.375G>C	c.(373-375)ctG>ctC	p.L125L	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_5'UTR	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	125					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CCATGCCATTCAGCTCTGTGG	0.622													G	38253028	C	G	38253028	2	3	145	1	0	0	0	0	0	0	0	1	10691	813	29	4		4	NR1D1	17	38253028	Silent	SNP	C	TCGA-14-4157-01A-01D-1353-08	4081392	38253028	42942182	55	9762											
FBF1	85302	broad.mit.edu	37	chr17	73922854	73922854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccttgatctctcactgTgctggggctcttgtcagaag	6	13	10	12	0	4	2	2	1	2	1	5	2	4	2	2	2	2	2	2	2	2	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr17:73922854T>C	uc002jqc.3	-	8	812	c.538A>G	c.(538-540)Aca>Gca	p.T180A	FBF1_uc002jqa.1_Non-coding_Transcript|FBF1_uc010wsp.2_Missense_Mutation_p.T170A|FBF1_uc002jqd.1_Missense_Mutation_p.T180A	NM_001080542	NP_001074011	A6NLR5	A6NLR5_HUMAN	Homo sapiens Fas (TNFRSF6) binding factor 1 (FBF1), mRNA.	180										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TCTCTCACTGTGCTGGGGCTC	0.512													C	73922854	T	C	73922854	3	2	145	1	0	0	0	0	1	0	0	0	5744	1696	59	3	2947	3	FBF1	17	73922854	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	35669826	73922854	7272356	56	9763											
OR10H2	26538	broad.mit.edu	37	chr19	15839024	15839024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagcgcagcctccacacGcccatgtacctcttcctgtg	7	8	9	17	3	1	0	0	0	1	0	3	1	3	0	5	0	4	2	5	0	1	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:15839024G>A	uc002nbm.2	+	0	191	c.171G>A	c.(169-171)acG>acA	p.T57T		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GCCTCCACACGCCCATGTACC	0.612													A	15839024	G	A	15839024	2	1	145	1	0	0	0	0	0	0	0	1	10982	1074	38	1		1	OR10H2	19	15839024	Silent	SNP	G	TCGA-14-4157-01A-01D-1353-08		15839024	43289959	57	9764											
LRP3	4037	broad.mit.edu	37	chr19	33697915	33697915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctgtgctgcagaatcttCgcacagccatgcggagacag	9	8	11	13	2	2	2	0	0	2	2	3	3	2	2	2	1	4	3	2	1	1	1			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:33697915C>T	uc010edh.3	+	6	1840	c.1747C>T	c.(1747-1749)Cgc>Tgc	p.R583C	LRP3_uc002nuk.4_Missense_Mutation_p.R457C	NM_002333	NP_002324	O75074	LRP3_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 3 (LRP3), mRNA.	583					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					GCAGAATCTTCGCACAGCCAT	0.721													T	33697915	C	T	33697915	3	4	145	1	0	0	0	0	1	0	0	0	9028	884	31	1	1773	1	LRP3	19	33697915	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	17858891	33697915	25431068	58	9765											
FFAR2	2867	broad.mit.edu	37	chr19	35940825	35940825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaagatcatcgaggctgCgtcgaacttccgctggtacc	8	10	10	13	4	2	1	2	0	0	1	5	3	3	1	2	2	3	3	2	2	3	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:35940825C>T	uc002nzg.2	+	1	289	c.209C>T	c.(208-210)gCg>gTg	p.A70V	FFAR2_uc010eea.3_Missense_Mutation_p.A70V	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	70						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATCGAGGCTGCGTCGAACTTC	0.637													T	35940825	C	T	35940825	3	4	145	1	0	0	0	0	1	0	0	0	5877	768	27	1	211	1	FFAR2	19	35940825	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	2242910	35940825	23188158	59	9766											
ZNF283	284349	broad.mit.edu	37	chr19	44351487	44351487	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatgtgggaagaattattTaagtgcctatcaactcaatg	15	12	9	5	0	2	2	2	0	0	2	2	3	2	3	1	1	2	0	1	1	8	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:44351487T>A	uc002oxr.4	+	6	1002	c.734T>A	c.(733-735)tTa>tAa	p.L245*	ZNF283_uc002oxp.4_Nonsense_Mutation_p.L106*	NM_181845	NP_862828	Q8N7M2	ZN283_HUMAN	Homo sapiens zinc finger protein 283 (ZNF283), mRNA.	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				AAGAATTATTTAAGTGCCTAT	0.408													A	44351487	T	A	44351487	4	1	145	1	0	0	0	0	0	1	0	0	17921	1764	61	5	748	5	ZNF283	19	44351487	Nonsense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	8410662	44351487	14777496	60	9767											
SAE1	10055	broad.mit.edu	37	chr19	47700626	47700626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacctgcttcctgaggaCtttgtcaggttggtgtcagt	5	14	12	10	0	2	2	2	2	0	0	3	3	3	3	3	3	1	2	3	3	0	3			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr19:47700626C>A	uc002pgc.3	+	6	978	c.870C>A	c.(868-870)gaC>gaA	p.D290E	SAE1_uc002pgd.3_Intron|SAE1_uc010ekx.3_Intron|SAE1_uc010ekw.3_Non-coding_Transcript|SAE1_uc010xyk.2_Missense_Mutation_p.D116E|SAE1_uc002pge.3_Missense_Mutation_p.D226E	NM_005500	NP_005491	Q9UBE0	SAE1_HUMAN	Homo sapiens SUMO1 activating enzyme subunit 1 (SAE1), transcript variant 1, mRNA.	290					protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		TTCCTGAGGACTTTGTCAGGT	0.398													A	47700626	C	A	47700626	3	1	145	1	0	0	0	0	1	0	0	0	13896	564	20	4	896	4	SAE1	19	47700626	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	3349139	47700626	11428357	61	9768											
PRIC285	85441	broad.mit.edu	37	chr20	62200951	62200951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagccggcctggcgggaggCcgggagccaccagagagaag	10	1	19	11	3	0	3	0	0	0	3	0	6	0	5	5	5	2	0	5	5	1	0			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62200951C>T	uc002yfm.2	-	4	1530	c.638G>A	c.(637-639)gGc>gAc	p.G213D	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	213					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TGGCGGGAGGCCGGGAGCCAC	0.697													T	62200951	C	T	62200951	3	4	145	1	0	0	0	0	1	0	0	0	12571	739	26	2	7398	2	PRIC285	20	62200951	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08		62200951	824569	62	9769											
UCKL1	54963	broad.mit.edu	37	chr20	62577191	62577191	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtgcgtggtgaagtcAtaaatgggcaccttgacact	9	10	13	9	2	1	2	1	2	0	0	1	2	1	2	1	3	1	2	1	3	3	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62577191A>T	uc010gkn.3	-	3	624	c.549T>A	c.(547-549)taT>taA	p.Y183*	UCKL1_uc011abm.2_Nonsense_Mutation_p.Y168*|UCKL1_uc011abn.2_Non-coding_Transcript|UCKL1_uc011abo.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	183					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGTGAAGTCATAAATGGGCA	0.587													T	62577191	A	T	62577191	4	4	145	1	0	0	0	0	0	1	0	0	17027	224	8	5	1145	5	UCKL1	20	62577191	Nonsense_Mutation	SNP	A	TCGA-14-4157-01A-01D-1353-08	376240	62577191	448329	63	9770											
PRPF6	24148	broad.mit.edu	37	chr20	62648082	62648082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttcctctttcaggatgccGaggaatgtgacagggctggg	7	11	15	8	1	2	1	1	1	1	0	3	4	3	3	2	4	1	2	2	4	1	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr20:62648082G>A	uc002yho.3	+	11	1699	c.1531G>A	c.(1531-1533)Gag>Aag	p.E511K	PRPF6_uc002yhp.3_Missense_Mutation_p.E511K	NM_012469	NP_036601	O94906	PRP6_HUMAN	Homo sapiens PRP6 pre-mRNA processing factor 6 homolog (S. cerevisiae) (PRPF6), mRNA.	511					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					TCAGGATGCCGAGGAATGTGA	0.512													A	62648082	G	A	62648082	3	1	145	1	0	0	0	0	1	0	0	0	12660	1059	37	1	1577	1	PRPF6	20	62648082	Missense_Mutation	SNP	G	TCGA-14-4157-01A-01D-1353-08	70891	62648082	377438	64	9771											
MKL1	57591	broad.mit.edu	37	chr22	40814732	40814737	+	In_Frame_Del	DEL	GGGGGC	GGGGGC	-																															tgcttcacgggggtgccgagGggggcgggggcgggggcggg																								rs144888766	by1000genomes	TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chr22:40814732_40814737delGGGGGC	uc003ayv.1	-	8	1912_1917	c.1705_1710delGCCCCC	c.(1705-1710)gcccccdel	p.AP569del	MKL1_uc010gyf.1_In_Frame_Del_p.AP519del|MKL1_uc003ayw.1_In_Frame_Del_p.AP569del|MKL1_uc010gye.1_In_Frame_Del_p.AP569del	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	569	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						GGGTGCCGAGgggggcgggggcgggg	0.723			T	RBM15	acute megakaryocytic leukemia								-	40814737	GGGGGC	-	40814732	7	5	145	1	0	1	0	1	0	0	0	0	9676	1219	43	0	1101	0	MKL1	22	40814732	In_Frame_Del	DEL	GGGGGC	TCGA-14-4157-01A-01D-1353-08		40814732	10489834	65	9772											
KIAA2022	340533	broad.mit.edu	37	chrX	73959989	73959989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtggacctgttctcgcTccatgtgctttcccttacat	4	16	7	14	1	1	0	0	0	1	0	4	1	3	1	4	1	2	3	4	1	1	4			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:73959989T>C	uc004eby.3	-	2	5020	c.4403A>G	c.(4402-4404)gAg>gGg	p.E1468G		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	1468					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.E1468G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTGTTCTCGCTCCATGTGCTT	0.473													C	73959989	T	C	73959989	3	2	145	1	0	0	0	0	1	0	0	0	8327	1551	54	3	155	3	KIAA2022	23	73959989	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08		73959989	81310571	66	9773											
ATRX	546	broad.mit.edu	37	chrX	76937111	76937111	+	Frame_Shift_Del	DEL	G	G	-																															tccctcacctatagaattctGatcatcatcttctatatcag																										TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:76937111delG	uc004ecp.4	-	8	3869	c.3637delC	c.(3637-3639)cagfs	p.Q1213fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q1175fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q998fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.Q1145fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.Q1184fs|ATRX_uc010nly.1_Frame_Shift_Del_p.Q1158fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1213					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)	ATAGAATTCTGATCATCATCT	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937111	G	-	76937111	7	5	145	1	0	1	0	1	0	0	0	0	1213	1299	45	0	3949	0	ATRX	23	76937111	Frame_Shift_Del	DEL	G	TCGA-14-4157-01A-01D-1353-08	2977122	76937111	78333449	67	9774											
DIAPH2	1730	broad.mit.edu	37	chrX	96638984	96638984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttgcaaaagagaaagCtgaacaagaaaagttagaac	23	5	8	5	0	0	4	0	1	0	3	0	5	0	4	0	0	5	3	0	0	11	2			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:96638984C>T	uc004efu.4	+	24	3482	c.3086C>T	c.(3085-3087)gCt>gTt	p.A1029V	DIAPH2_uc004eft.4_Missense_Mutation_p.A1029V	NM_006729	NP_006720	O60879	DIAP2_HUMAN	Homo sapiens diaphanous homolog 2 (Drosophila) (DIAPH2), transcript variant 156, mRNA.	1029					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						AAAGAGAAAGCTGAACAAGAA	0.313													T	96638984	C	T	96638984	3	4	145	1	0	0	0	0	1	0	0	0	4558	797	28	2	3184	2	DIAPH2	23	96638984	Missense_Mutation	SNP	C	TCGA-14-4157-01A-01D-1353-08	19701873	96638984	58631576	68	9775											
VAMP7	6845	broad.mit.edu	37	chrX	155149532	155149532	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgattgacaaaacagaaaaTcttgtggattctgtaagtat	15	14	8	4	0	2	3	0	2	2	1	2	4	2	4	0	1	1	2	0	1	6	6			TCGA-14-4157-01A-01D-1353-08	TCGA-14-4157-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c38bd53-aad2-46aa-8c37-356aa27003ee	406bcb85-4374-4dad-86b7-1776aeb412cd	g.chrX:155149532T>G	uc004fnr.3	+	5	667	c.489T>G	c.(487-489)aaT>aaG	p.N163K	VAMP7_uc011naa.2_Missense_Mutation_p.N124K|VAMP7_uc011nab.2_Missense_Mutation_p.N62K|VAMP7_uc004fnt.3_Missense_Mutation_p.N122K|VAMP7_uc004fns.3_Intron|VAMP7_uc011nac.2_Missense_Mutation_p.N96K	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	163	v-SNARE coiled-coil homology.				calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AAACAGAAAATCTTGTGGATT	0.338													G	155149532	T	G	155149532	3	3	145	1	0	0	0	0	1	0	0	0	17219	1432	50	5	507	5	VAMP7	23	155149532	Missense_Mutation	SNP	T	TCGA-14-4157-01A-01D-1353-08	58510548	155149532	121028	69	9776											
KIAA1751	85452	broad.mit.edu	37	chr1	1888142	1888142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcgtgcccaagcccccaaCgttggtcagcgtgatggtcc	7	8	12	14	3	1	1	1	1	0	0	3	1	2	1	4	2	4	1	4	2	2	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:1888142C>T	uc001aim.1	-	16	2089	c.1933G>A	c.(1933-1935)Gtt>Att	p.V645I	KIAA1751_uc009vkz.1_Missense_Mutation_p.V645I	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	645										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		AAGCCCCCAACGTTGGTCAGC	0.572													T	1888142	C	T	1888142	3	4	146	1	0	0	0	0	1	0	0	0	8314	536	19	1	363	1	KIAA1751	1	1888142	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		1888142	247362479	1	9777											
KIF1B	23095	broad.mit.edu	37	chr1	10425498	10425498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccactttttgctgctgcGtgagagacttggtgacagca	7	11	12	11	2	0	3	0	2	0	1	0	4	0	3	2	1	4	3	2	1	0	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:10425498G>A	uc001aqx.4	+	42	4746	c.4544G>A	c.(4543-4545)cGt>cAt	p.R1515H	KIF1B_uc001aqw.4_Missense_Mutation_p.R1469H|KIF1B_uc001aqy.3_Missense_Mutation_p.R1489H|KIF1B_uc001aqz.3_Missense_Mutation_p.R1515H|KIF1B_uc001ara.3_Missense_Mutation_p.R1475H|KIF1B_uc001arb.3_Missense_Mutation_p.R1501H	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1515					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		TTGCTGCTGCGTGAGAGACTT	0.507													A	10425498	G	A	10425498	3	1	146	1	0	0	0	0	1	0	0	0	8342	1145	40	1	6053	1	KIF1B	1	10425498	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	8537356	10425498	238825123	2	9778											
RPL11	6135	broad.mit.edu	37	chr1	24019182	24019185	+	Frame_Shift_Del	DEL	AGAC	AGAC	-																															atctgtgttggggagagtggAgacagactgacgcgagcagc																										TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:24019182_24019185delAGAC	uc001bhk.3	+	1	135_138	c.90_93delAGAC	c.(88-93)ggagacfs	p.G30fs	RPL11_uc001bhl.3_Frame_Shift_Del_p.G29fs	NM_000975	NP_000966	P62913	RL11_HUMAN	Homo sapiens ribosomal protein L11 (RPL11), transcript variant 1, mRNA.	30					endocrine pancreas development|protein localization to nucleus|protein targeting|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|rRNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		GGGAGAGTGGAGACAGACTGACGC	0.544													-	24019185	AGAC	-	24019182	7	5	146	1	0	1	0	1	0	0	0	0	13648	291	11	0	96	0	RPL11	1	24019182	Frame_Shift_Del	DEL	AGAC	TCGA-15-0742-01A-01W-0348-08	13593684	24019182	225231439	3	9779											
CNKSR1	10256	broad.mit.edu	37	chr1	26507077	26507077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggagctcatcctgggCggggtggaacagctccaggc	8	5	15	13	1	1	0	1	0	0	0	3	2	3	2	3	6	3	2	3	6	1	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:26507077C>T	uc001bln.4	+	1	244	c.186C>T	c.(184-186)ggC>ggT	p.G62G	CNKSR1_uc010oex.1_Non-coding_Transcript|CNKSR1_uc001blm.4_Silent_p.G62G|CNKSR1_uc009vsd.3_5'UTR|CNKSR1_uc009vse.3_5'UTR	NM_006314	NP_006305	Q969H4	CNKR1_HUMAN	Homo sapiens connector enhancer of kinase suppressor of Ras 1 (CNKSR1), transcript variant 1, mRNA.	62	SAM.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		TCATCCTGGGCGGGGTGGAAC	0.657													T	26507077	C	T	26507077	2	4	146	1	0	0	0	0	0	0	0	1	3637	755	27	1		1	CNKSR1	1	26507077	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	2487895	26507077	222743544	4	9780											
TACSTD2	4070	broad.mit.edu	37	chr1	59042498	59042498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcgccttgaagcggccctCggggtcgcagtcggggtcgt	3	7	18	13	7	0	1	0	1	0	0	4	1	0	1	2	5	1	1	2	5	1	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:59042498C>T	uc001cyz.4	-	0	669	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	111	Thyroglobulin type-1.				cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					AAGCGGCCCTCGGGGTCGCAG	0.706													T	59042498	C	T	59042498	3	4	146	1	0	0	0	0	1	0	0	0	15605	893	31	1	644	1	TACSTD2	1	59042498	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	32535421	59042498	190208123	5	9781											
CCDC18	343099	broad.mit.edu	37	chr1	93698049	93698049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagacttctgagcaaaacGttattctacagcatactctt	14	12	6	9	1	3	2	0	1	3	1	3	3	3	2	0	0	5	3	0	0	6	6			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:93698049G>A	uc021opx.1	+	17	2520	c.2359G>A	c.(2359-2361)Gtt>Att	p.V787I	CCDC18_uc009wdl.1_Missense_Mutation_p.V422I	NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	786										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TGAGCAAAACGTTATTCTACA	0.318													A	93698049	G	A	93698049	3	1	146	1	0	0	0	0	1	0	0	0	2821	1145	40	1	2783	1	CCDC18	1	93698049	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	34655551	93698049	155552572	6	9782											
NOTCH2	4853	broad.mit.edu	37	chr1	120510196	120510196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacactcacagtggaaggcgCcatccgtgttcacacatttt	10	10	9	12	2	2	0	2	0	0	0	3	2	3	1	2	2	0	1	2	2	1	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr1:120510196C>T	uc001eik.3	-	7	1610	c.1313G>A	c.(1312-1314)gGc>gAc	p.G438D	NOTCH2_uc001eil.3_Missense_Mutation_p.G438D|NOTCH2_uc021osy.1_Missense_Mutation_p.G399D|NOTCH2_uc001eim.4_Missense_Mutation_p.G355D	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	438	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGAAGGCGCCATCCGTGTT	0.478			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120510196	C	T	120510196	3	4	146	1	0	0	0	0	1	0	0	0	10624	739	26	2	6210	2	NOTCH2	1	120510196	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26812147	120510196	128740425	7	9783											
LOXL3	84695	broad.mit.edu	37	chr2	74779634	74779634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccagccagccggaacCgaagcccctggctcccggcc	8	2	13	18	3	0	0	0	0	0	0	1	3	1	2	8	4	5	1	8	4	3	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:74779634C>T	uc002smp.1	-	1	200	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	LOXL3_uc002smo.1_5'Flank|LOXL3_uc010ffm.1_Missense_Mutation_p.R43Q|LOXL3_uc002smq.1_Missense_Mutation_p.R43Q|LOXL3_uc010ffn.1_Missense_Mutation_p.R43Q|DOK1_uc002smr.3_Intron|DOK1_uc002sms.3_5'Flank|DOK1_uc010ffo.3_5'Flank|DOK1_uc002smt.3_5'Flank|DOK1_uc002smu.3_5'Flank|DOK1_uc010yrz.2_5'Flank|DOK1_uc002smw.1_5'Flank	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	43						extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						CAGCCGGAACCGAAGCCCCTG	0.662													T	74779634	C	T	74779634	3	4	146	1	0	0	0	0	1	0	0	0	8971	652	23	1	2185	1	LOXL3	2	74779634	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		74779634	168419739	8	9784											
LONRF2	164832	broad.mit.edu	37	chr2	100916305	100916305	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgcctttttatcctcttCaaagtgtagacccagtataa	12	14	5	10	1	2	1	1	0	1	1	3	1	3	1	3	0	1	2	3	0	6	8			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:100916305C>A	uc002tal.4	-	4	1781	c.1141G>T	c.(1141-1143)Gaa>Taa	p.E381*	LONRF2_uc010yvs.2_Non-coding_Transcript	NM_198461	NP_940863	Q1L5Z9	LONF2_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 2 (LONRF2), mRNA.	381					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TTATCCTCTTCAAAGTGTAGA	0.413													A	100916305	C	A	100916305	4	1	146	1	0	0	0	0	0	1	0	0	8965	835	29	4	1155	4	LONRF2	2	100916305	Nonsense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26136671	100916305	142283068	9	9785											
SLC20A1	6574	broad.mit.edu	37	chr2	113417335	113417335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccatggtggcaatgacGtaaggtcagttgacattgat	10	11	12	8	2	1	3	1	3	0	0	2	3	1	3	1	3	0	3	1	3	2	3	rs142437239		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:113417335G>A	uc002tib.3	+	7	2142	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	SLC20A1_uc002tic.1_Missense_Mutation_p.V347I	NM_005415	NP_005406	Q8WUM9	S20A1_HUMAN	Homo sapiens solute carrier family 20 (phosphate transporter), member 1 (SLC20A1), mRNA.	535					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TGGCAATGACGTAAGGTCAGT	0.458													A	113417335	G	A	113417335	3	1	146	1	0	0	0	0	1	0	0	0	14532	1145	40	1	1629	1	SLC20A1	2	113417335	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	12501030	113417335	129782038	10	9786											
LRP1B	53353	broad.mit.edu	37	chr2	141072536	141072536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgcaagttcctccattcTggcagtagttgctacagtgg	8	12	11	10	1	1	0	0	0	1	0	3	0	3	0	2	2	3	7	2	2	4	6			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072536T>C	uc002tvj.1	-	82	13745	c.12773A>G	c.(12772-12774)cAg>cGg	p.Q4258R		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4258	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCCTCCATTCTGGCAGTAGTT	0.373										TSP Lung(27;0.18)			C	141072536	T	C	141072536	3	2	146	1	0	0	0	0	1	0	0	0	9025	1580	55	3	1062	3	LRP1B	2	141072536	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	27655201	141072536	102126837	11	9787											
LRP1B	53353	broad.mit.edu	37	chr2	141072633	141072633	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcatttaaaatgcatcTtcctccattttcacaagtta	11	18	2	10	0	3	0	2	0	2	0	6	0	5	0	2	0	1	2	2	0	4	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141072633T>C	uc002tvj.1	-	82	13648	c.12676A>G	c.(12676-12678)Aga>Gga	p.R4226G		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4226	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAATGCATCTTCCTCCATTT	0.343										TSP Lung(27;0.18)			C	141072633	T	C	141072633	3	2	146	1	0	0	0	0	1	0	0	0	9025	1617	56	3	1159	3	LRP1B	2	141072633	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	97	141072633	102126740	12	9788											
LRP1B	53353	broad.mit.edu	37	chr2	141092130	141092130	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagtccagtacatcatccTgaagagagcgggtcagagag	14	6	12	9	1	2	3	2	1	0	2	4	5	4	3	2	1	3	1	2	1	3	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr2:141092130T>C	uc002tvj.1	-	79	13089	c.12117_splice	c.e79-1	p.G4039_splice		NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	4039					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TACATCATCCTGAAGAGAGCG	0.483										TSP Lung(27;0.18)			C	141092130	T	C	141092130	5	2	146	1	0	0	0	0	0	0	1	0	9025	1594	55	3	1736	3	LRP1B	2	141092130	Splice_Site	SNP	T	TCGA-15-0742-01A-01W-0348-08	19497	141092130	102107243	13	9789											
CHL1	10752	broad.mit.edu	37	chr3	439999	439999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggagctgaacatatagttCgcctaatgactaagaattgg	13	10	11	7	2	0	3	0	2	0	1	1	4	0	4	1	2	2	2	1	2	6	6			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:439999C>T	uc003bot.3	+	24	3826	c.3184C>T	c.(3184-3186)Cgc>Tgc	p.R1062C	CHL1_uc003bou.3_Missense_Mutation_p.R1046C|CHL1_uc003bow.2_Missense_Mutation_p.R1046C|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1046					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		ACATATAGTTCGCCTAATGAC	0.388													T	439999	C	T	439999	3	4	146	1	0	0	0	0	1	0	0	0	3379	884	31	1	3274	1	CHL1	3	439999	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		439999	197582431	14	9790											
NEK10	152110	broad.mit.edu	37	chr3	27233555	27233555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcatggtgacatgtgaCggtgttccggttggcttcca	6	12	13	10	2	1	2	1	2	0	0	3	2	3	2	2	4	1	4	2	4	0	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:27233555C>T	uc010hfk.3	-	4	635	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	NEK10_uc003cds.1_Missense_Mutation_p.V221I|NEK10_uc010hfj.3_Missense_Mutation_p.V136I			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	824							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGACATGTGACGGTGTTCCGG	0.438													T	27233555	C	T	27233555	3	4	146	1	0	0	0	0	1	0	0	0	10398	551	19	1		1	NEK10	3	27233555	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26793556	27233555	170788875	15	9791											
SCN11A	11280	broad.mit.edu	37	chr3	38951639	38951639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaaagttgtcaaaattcGtataattatagtcaggatta	16	13	7	5	1	2	0	2	0	0	0	3	1	2	1	1	1	1	2	1	1	8	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:38951639G>A	uc021wvy.1	-	7	1218	c.1019C>T	c.(1018-1020)aCg>aTg	p.T340M		NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	340					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.T340T(1)		NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTCAAAATTCGTATAATTATA	0.363													A	38951639	G	A	38951639	3	1	146	1	0	0	0	0	1	0	0	0	14006	1145	40	1	4432	1	SCN11A	3	38951639	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	11718084	38951639	159070791	16	9792											
COL6A5	256076	broad.mit.edu	37	chr3	130187963	130187963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatacaccaaatgaaacAtcatctccaagactctcaac	17	8	3	13	0	3	2	2	1	2	1	5	2	3	2	2	0	3	1	2	0	6	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:130187963A>T	uc010htj.1	+	37	7609	c.7115A>T	c.(7114-7116)cAt>cTt	p.H2372L	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.H411L|COL6A5_uc010htk.1_Missense_Mutation_p.H411L	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2372	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						CAAATGAAACATCATCTCCAA	0.428													T	130187963	A	T	130187963	3	4	146	1	0	0	0	0	1	0	0	0	3733	217	8	5	7261	5	COL6A5	3	130187963	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	91236324	130187963	67834467	17	9793											
PLSCR1	5359	broad.mit.edu	37	chr3	146239654	146239654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacaacaacagctgctaCatcttagtggtctctccaga	12	9	9	11	0	2	1	0	0	2	1	4	2	3	2	1	2	5	2	1	2	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:146239654C>T	uc003evx.4	-	5	930	c.542G>A	c.(541-543)tGt>tAt	p.C181Y	PLSCR1_uc011bnn.2_Missense_Mutation_p.C100Y|PLSCR1_uc003evz.4_Intron	NM_021105	NP_066928	O15162	PLS1_HUMAN	Homo sapiens phospholipid scramblase 1 (PLSCR1), mRNA.	181	Cys-rich.				phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						ACAGCTGCTACATCTTAGTGG	0.438													T	146239654	C	T	146239654	3	4	146	1	0	0	0	0	1	0	0	0	12186	478	17	2	430	2	PLSCR1	3	146239654	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	16051691	146239654	51782776	18	9794											
SI	6476	broad.mit.edu	37	chr3	164700076	164700076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcgaatttttatttccGttatacgttagagtaactgc	11	15	9	6	3	0	1	0	0	0	1	1	3	1	2	1	1	4	3	1	1	7	8			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:164700076G>A	uc003fei.3	-	46	5433	c.5370C>T	c.(5368-5370)aaC>aaT	p.N1790N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1790	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity	p.N1790N(2)		NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTTTATTTCCGTTATACGTTA	0.348										HNSCC(35;0.089)			A	164700076	G	A	164700076	2	1	146	1	0	0	0	0	0	0	0	1	14391	1136	40	1		1	SI	3	164700076	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	18460422	164700076	33322354	19	9795											
PIK3CA	5290	broad.mit.edu	37	chr3	178916851	178916853	+	In_Frame_Del	DEL	GAA	GAA	-																															ttactcaagaagcagaaaggGaagaattttttgatgaaaca																										TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:178916851_178916853delGAA	uc003fjk.3	+	1	395_397	c.238_240delGAA	c.(238-240)gaadel	p.E81del		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	81	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E81K(10)|p.E80K(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGCAGAAAGGGAAGAATTTTTTG	0.365		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916853	GAA	-	178916851	7	5	146	1	0	1	0	1	0	0	0	0	11990	1175	41	0	240	0	PIK3CA	3	178916851	In_Frame_Del	DEL	GAA	TCGA-15-0742-01A-01W-0348-08	14216775	178916851	19105579	20	9796											
TMEM207	131920	broad.mit.edu	37	chr3	190147491	190147491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtttgaaggtgaattcCaacagttggactcacagctg	11	12	11	7	0	1	3	1	3	0	0	2	4	2	4	1	2	2	3	1	2	3	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr3:190147491C>G	uc003fsj.2	-	4	401	c.334G>C	c.(334-336)Gga>Cga	p.G112R		NM_207316	NP_997199	Q6UWW9	TM207_HUMAN	Homo sapiens transmembrane protein 207 (TMEM207), mRNA.	112						integral to membrane				endometrium(1)|large_intestine(2)|lung(4)	7	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.0176)		AGGTGAATTCCAACAGTTGGA	0.428													G	190147491	C	G	190147491	3	3	146	1	0	0	0	0	1	0	0	0	16232	603	21	4	110	4	TMEM207	3	190147491	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	11230640	190147491	7874939	21	9797											
CPEB2	132864	broad.mit.edu	37	chr4	15005738	15005739	+	In_Frame_Ins	INS	-	-	GCG																															tgggctcagcgttccgacgaINSgcggcggcggcggcggcggc																										TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:15005738_15005739insGCG	uc003gnk.2	+	0	1441_1442	c.1441_1442insGCG	c.(1441-1443)agc>aGCGgc	p.487_488insG	BC113726_uc003gng.4_5'Flank|BC113726_uc003gnh.1_5'Flank|CPEB2_uc003gnl.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnm.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gni.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnn.2_In_Frame_Ins_p.487_488insG|CPEB2_uc003gnj.2_In_Frame_Ins_p.487_488insG	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	50	RRM 2.				regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						CGTTCCGACGAgcggcggcggc	0.728													GCG	15005739	-	GCG	15005738	7	5	146	1	0	1	1	0	0	0	0	0	3832	304	11	0	1443	0	CPEB2	4	15005738	In_Frame_Ins	INS	-	TCGA-15-0742-01A-01W-0348-08		15005738	176148538	22	9798											
CCDC158	339965	broad.mit.edu	37	chr4	77305567	77305567	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggactgactctcccttcGtctatgaaataaatgaaaga	13	11	8	9	1	2	4	0	3	2	1	4	5	2	5	1	1	0	0	1	1	5	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr4:77305567G>A	uc003hkb.4	-	5	552	c.399_splice	c.e5-1	p.R133_splice	CCDC158_uc003hkd.3_Splice_Site_p.R133_splice	NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	133										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTCTCCCTTCGTCTATGAAAT	0.313													A	77305567	G	A	77305567	4	1	146	1	0	0	0	0	0	1	0	0	2817	1159	40	1	3021	1	CCDC158	4	77305567	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	62299829	77305567	113848709	23	9799											
HEATR7B2	133558	broad.mit.edu	37	chr5	41051102	41051102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcattccaatgaccagtgGgtccagggtttttaagacct	10	11	11	9	0	0	2	0	1	0	1	2	2	2	2	4	3	0	2	4	3	2	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:41051102G>T	uc003jmj.4	-	12	1811	c.1321C>A	c.(1321-1323)Cca>Aca	p.P441T	HEATR7B2_uc003jmi.4_5'UTR	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	441							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						ATGACCAGTGGGTCCAGGGTT	0.408													T	41051102	G	T	41051102	3	4	146	1	0	0	0	0	1	0	0	0	7090	1232	43	4	3556	4	HEATR7B2	5	41051102	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		41051102	139864158	24	9800											
SNX24	28966	broad.mit.edu	37	chr5	122281829	122281829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagtcttggaacagcgacGacaaggcttggaaacatact	15	7	10	9	2	1	0	0	0	1	0	1	4	1	2	0	3	4	1	0	3	5	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:122281829G>A	uc011cwo.2	+	2	393	c.224G>A	c.(223-225)cGa>cAa	p.R75Q	SNX24_uc003ktf.2_Missense_Mutation_p.R75Q|SNX24_uc010jcy.3_Missense_Mutation_p.R75Q	NM_014035	NP_054754	Q9Y343	SNX24_HUMAN	Homo sapiens sorting nexin 24 (SNX24), mRNA.	75	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			lung(5)	5		Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000654)|Epithelial(69;0.0016)|all cancers(49;0.0139)		GAACAGCGACGACAAGGCTTG	0.348													A	122281829	G	A	122281829	3	1	146	1	0	0	0	0	1	0	0	0	14989	1058	37	1	234	1	SNX24	5	122281829	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	81230727	122281829	58633431	25	9801											
SLC25A2	83884	broad.mit.edu	37	chr5	140682773	140682773	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaagccacaggcaaatTccagcaactccaccacttaa	16	5	5	15	1	0	0	0	0	0	0	2	1	2	0	4	1	3	2	4	1	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:140682773T>C	uc003ljf.3	-	0	840	c.660A>G	c.(658-660)ggA>ggG	p.G220G		NM_031947	NP_114153	Q9BXI2	ORNT2_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2 (SLC25A2), nuclear gene encoding mitochondrial protein, mRNA.	220					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	ACAGGCAAATTCCAGCAACTC	0.443													C	140682773	T	C	140682773	2	2	146	1	0	0	0	0	0	0	0	1	14576	1770	62	3		3	SLC25A2	5	140682773	Silent	SNP	T	TCGA-15-0742-01A-01W-0348-08	18400944	140682773	40232487	26	9802											
G3BP1	10146	broad.mit.edu	37	chr5	151170550	151170550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatggtgtggtagtccAggtgatggggcttctctcta	8	13	14	6	0	2	2	0	2	2	0	4	2	3	2	1	5	0	2	1	5	3	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr5:151170550A>G	uc003lun.3	+	3	449	c.278A>G	c.(277-279)cAg>cGg	p.Q93R	G3BP1_uc010jhy.1_Missense_Mutation_p.Q93R|G3BP1_uc003lum.3_Missense_Mutation_p.Q93R|G3BP1_uc011dcu.2_5'UTR|G3BP1_uc010jhz.3_5'UTR	NM_005754	NP_938405	Q13283	G3BP1_HUMAN	Homo sapiens GTPase activating protein (SH3 domain) binding protein 1 (G3BP1), transcript variant 1, mRNA.	93	NTF2.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			GTGGTAGTCCAGGTGATGGGG	0.453													G	151170550	A	G	151170550	3	3	146	1	0	0	0	0	1	0	0	0	6193	188	7	3	288	3	G3BP1	5	151170550	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	10487777	151170550	29744710	27	9803											
MDC1	9656	broad.mit.edu	37	chr6	30671524	30671524	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatggtagctaaagacctCttgcggctttgagaggcctt	8	12	11	10	1	1	2	0	1	1	2	2	3	2	2	3	3	2	3	3	3	3	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:30671524C>G	uc003nrg.4	-	9	5876	c.5436G>C	c.(5434-5436)aaG>aaC	p.K1812N	MDC1_uc003nrf.4_Missense_Mutation_p.K443N|MDC1_uc011dmp.1_Missense_Mutation_p.K1419N	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1812	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTAAAGACCTCTTGCGGCTTT	0.498								Other conserved DNA damage response genes					G	30671524	C	G	30671524	3	3	146	1	0	0	0	0	1	0	0	0	9478	912	32	4	857	4	MDC1	6	30671524	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		30671524	140443543	28	9804											
KIAA1586	57691	broad.mit.edu	37	chr6	56918065	56918065	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaatactgtttacagtttAgtaaaacataacagaccttt	15	15	4	7	0	1	1	1	0	0	1	1	1	1	1	1	0	4	3	1	0	7	9			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:56918065A>C	uc003pdj.3	+	3	938	c.768A>C	c.(766-768)ttA>ttC	p.L256F	KIAA1586_uc011dxm.2_Missense_Mutation_p.L229F	NM_020931	NP_065982	Q9HCI6	K1586_HUMAN	Homo sapiens KIAA1586 (KIAA1586), mRNA.	256							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTTACAGTTTAGTAAAACATA	0.279													C	56918065	A	C	56918065	3	2	146	1	0	0	0	0	1	0	0	0	8303	417	15	5	782	5	KIAA1586	6	56918065	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	26246541	56918065	114197002	29	9805											
KCNQ5	56479	broad.mit.edu	37	chr6	73904449	73904449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccagactttctacgCgcttagccctactatgcaca	9	10	7	15	2	1	1	0	0	1	1	1	1	1	1	2	0	5	2	2	0	4	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:73904449C>T	uc011dyh.2	+	14	2515	c.2168C>T	c.(2167-2169)gCg>gTg	p.A723V	KCNQ5_uc011dyi.2_Missense_Mutation_p.A714V|KCNQ5_uc010kat.3_Missense_Mutation_p.A695V|KCNQ5_uc003pgk.3_Missense_Mutation_p.A704V|KCNQ5_uc011dyj.2_Missense_Mutation_p.A594V|KCNQ5_uc011dyk.2_Missense_Mutation_p.A454V	NM_001160133	NP_001153605	Q9NR82	KCNQ5_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 5 (KCNQ5), transcript variant 4, mRNA.	704					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		ACTTTCTACGCGCTTAGCCCT	0.488													T	73904449	C	T	73904449	3	4	146	1	0	0	0	0	1	0	0	0	8144	768	27	1	2226	1	KCNQ5	6	73904449	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	16986384	73904449	97210618	30	9806											
IMPG1	3617	broad.mit.edu	37	chr6	76751736	76751736	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccaaatcgaatattcGtctcatagttgacattttgt	10	17	6	8	2	1	1	1	1	1	0	4	2	1	1	1	0	1	1	1	0	4	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:76751736G>A	uc003pik.1	-	1	305	c.175C>T	c.(175-177)Cga>Tga	p.R59*		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	59					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCGAATATTCGTCTCATAGTT	0.363													A	76751736	G	A	76751736	4	1	146	1	0	0	0	0	0	1	0	0	7786	1153	40	1	2282	1	IMPG1	6	76751736	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	2847287	76751736	94363331	31	9807											
NOX3	50508	broad.mit.edu	37	chr6	155776184	155776184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacccaaaataactcgtGtgtaatggaaagactcctcc	14	10	6	11	1	0	1	0	0	0	1	3	2	2	2	3	1	2	1	3	1	6	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr6:155776184G>A	uc003qqm.3	-	1	231	c.128C>T	c.(127-129)aCa>aTa	p.T43I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	43							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATAACTCGTGTGTAATGGAA	0.343													A	155776184	G	A	155776184	3	1	146	1	0	0	0	0	1	0	0	0	10633	1377	48	2	1626	2	NOX3	6	155776184	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	79024448	155776184	15338883	32	9808											
EGFR	1956	broad.mit.edu	37	chr7	55238894	55238894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccaggtcttgaaggctGtccaacgaatgggtaagtgt	9	10	15	7	1	1	1	0	1	1	0	2	2	2	1	2	4	1	2	2	4	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:55238894G>A	uc003tqk.3	+	15	2153	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	EGFR_uc022adm.1_Missense_Mutation_p.C636Y|EGFR_uc010kzg.2_Missense_Mutation_p.C591Y|EGFR_uc022adn.1_Missense_Mutation_p.C591Y|EGFR_uc011kco.2_Missense_Mutation_p.C583Y|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	636					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C636Y(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTTGAAGGCTGTCCAACGAAT	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55238894	G	A	55238894	3	1	146	1	0	0	0	0	1	0	0	0	5006	1377	48	2	2233	2	EGFR	7	55238894	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		55238894	103899769	33	9809											
CCL24	6369	broad.mit.edu	37	chr7	75442963	75442963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcggaggtcttacccGtagggatgatgtggtgggca	6	11	16	8	2	1	1	0	1	1	0	3	3	2	3	2	5	1	2	2	5	2	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:75442963G>A	uc011kga.2	-	0	130	c.71C>T	c.(70-72)aCg>aTg	p.T24M		NM_002991	NP_002982	O00175	CCL24_HUMAN	Homo sapiens chemokine (C-C motif) ligand 24 (CCL24), mRNA.	24					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			endometrium(1)|lung(2)	3						GGTCTTACCCGTAGGGATGAT	0.612													A	75442963	G	A	75442963	3	1	146	1	0	0	0	0	1	0	0	0	2924	1145	40	1	298	1	CCL24	7	75442963	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	20204069	75442963	83695700	34	9810											
HGF	3082	broad.mit.edu	37	chr7	81331979	81331979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggacaaaaataccaggaCgatttggaatggcacatcca	15	7	9	10	2	0	0	0	0	0	0	2	4	1	3	2	4	1	1	2	4	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:81331979C>T	uc003uhl.3	-	17	2270	c.2105G>A	c.(2104-2106)cGt>cAt	p.R702H	HGF_uc003uhm.3_Missense_Mutation_p.R697H	NM_000601	NP_000592	P14210	HGF_HUMAN	Homo sapiens hepatocyte growth factor (hepapoietin A; scatter factor) (HGF), transcript variant 1, mRNA.	702	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						AATACCAGGACGATTTGGAAT	0.403													T	81331979	C	T	81331979	3	4	146	1	0	0	0	0	1	0	0	0	7140	536	19	1	85	1	HGF	7	81331979	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	5889016	81331979	77806684	35	9811											
ZNF804B	219578	broad.mit.edu	37	chr7	88963595	88963595	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtaaaagaagcatgtacCcataatgtggcatctaaacc	15	10	7	9	0	1	1	0	0	1	1	1	1	1	1	2	1	3	4	2	1	7	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:88963595C>A	uc011khi.2	+	3	1837	c.1299C>A	c.(1297-1299)acC>acA	p.T433T		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	433						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AAGCATGTACCCATAATGTGG	0.373										HNSCC(36;0.09)			A	88963595	C	A	88963595	2	1	146	1	0	0	0	0	0	0	0	1	18270	610	22	4		4	ZNF804B	7	88963595	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	7631616	88963595	70175068	36	9812											
COL1A2	1278	broad.mit.edu	37	chr7	94055328	94055328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtccttctggtcctgttGgtcctgctggtgctgttggc	1	15	15	10	0	1	0	0	0	1	0	4	0	4	0	3	5	2	4	3	5	0	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:94055328G>C	uc003ung.1	+	44	3433	c.2962G>C	c.(2962-2964)Ggt>Cgt	p.G988R	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	988					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCTGTTGGTCCTGCTGG	0.478										HNSCC(75;0.22)			C	94055328	G	C	94055328	3	2	146	1	0	0	0	0	1	0	0	0	3709	1348	47	4	3140	4	COL1A2	7	94055328	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	5091733	94055328	65083335	37	9813											
SLC26A3	1811	broad.mit.edu	37	chr7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattttaccttgtagtaCggccacaatccctgtgctga	12	12	7	10	1	0	1	0	1	0	0	1	1	1	1	3	1	3	3	3	1	6	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:107434196C>T	uc003ver.2	-	2	473	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	88					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383													T	107434196	C	T	107434196	3	4	146	1	0	0	0	0	1	0	0	0	14612	536	19	1	2108	1	SLC26A3	7	107434196	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	13378868	107434196	51704467	38	9814											
SPAM1	6677	broad.mit.edu	37	chr7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaccctcagtataatgcGaagtatggtaagttgaattg	13	11	12	5	1	1	1	1	1	0	0	1	3	1	2	1	2	2	4	1	2	7	6			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338													A	123595133	G	A	123595133	3	1	146	1	0	0	0	0	1	0	0	0	15082	1058	37	1	1043	1	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	16160937	123595133	35543530	39	9815											
SVOPL	136306	broad.mit.edu	37	chr7	138310791	138310791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagccaatcaggcCggcactagaaaacaggaagc	17	2	13	9	1	1	2	1	0	0	2	1	5	1	4	2	4	3	1	2	4	7	1	rs144549446		TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr7:138310791C>T	uc011kqh.2	-	11	1186	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	SVOPL_uc003vue.3_Missense_Mutation_p.G244S	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	396						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CCAATCAGGCCGGCACTAGAA	0.507													T	138310791	C	T	138310791	3	4	146	1	0	0	0	0	1	0	0	0	15520	652	23	1	308	1	SVOPL	7	138310791	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	14715658	138310791	20827872	40	9816											
RIMS2	9699	broad.mit.edu	37	chr8	105001550	105001550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtcggaatgtggaacaggGgcttcgagggacccgcacta	10	7	15	9	3	0	0	0	0	0	0	2	4	0	3	1	5	1	2	1	5	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:105001550G>A	uc003yls.3	+	14	2520	c.2279G>A	c.(2278-2280)gGg>gAg	p.G760E	RIMS2_uc003ylp.3_Missense_Mutation_p.G982E|RIMS2_uc003ylw.2_Missense_Mutation_p.G774E|RIMS2_uc003ylq.3_Missense_Mutation_p.G774E|RIMS2_uc003ylr.3_Missense_Mutation_p.G821E	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1044					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTGGAACAGGGGCTTCGAGGG	0.398										HNSCC(12;0.0054)			A	105001550	G	A	105001550	3	1	146	1	0	0	0	0	1	0	0	0	13459	1232	43	2	3137	2	RIMS2	8	105001550	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		105001550	41362472	41	9817											
CSMD3	114788	broad.mit.edu	37	chr8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactaccatcacttaccttCgtaatataccttaaatccat	13	13	1	14	1	1	0	1	0	0	0	3	0	2	0	5	0	3	1	5	0	7	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr8:114290824C>T	uc003ynu.3	-	2	670	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_uc003ynt.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	171	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	114290824	C	T	114290824	3	4	146	1	0	0	0	0	1	0	0	0	3979	893	31	1	10888	1	CSMD3	8	114290824	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	9289274	114290824	32073198	42	9818											
IFNA21	3452	broad.mit.edu	37	chr9	21166247	21166247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaacctcctgtatcacgCaggcttccaggtcattcagc	8	9	7	17	1	3	0	3	0	0	0	5	0	5	0	5	2	2	3	5	2	2	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:21166247C>G	uc003zom.2	-	0	413	c.365G>C	c.(364-366)tGc>tCc	p.C122S		NM_002175	NP_002166	P01568	IFN21_HUMAN	Homo sapiens interferon, alpha 21 (IFNA21), mRNA.	122					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTGTATCACGCAGGCTTCCAG	0.463													G	21166247	C	G	21166247	3	3	146	1	0	0	0	0	1	0	0	0	7596	710	25	4	208	4	IFNA21	9	21166247	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		21166247	120047184	43	9819											
S1PR3	1903	broad.mit.edu	37	chr9	91616623	91616623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgccttcacgctgggcGccctgcccattctgggctgg	3	11	12	15	2	3	0	2	0	1	0	3	0	3	0	3	3	2	2	3	3	0	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:91616623G>A	uc022bjm.1	+	0	508	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	S1PR3_uc004aqe.3_Missense_Mutation_p.A170T	NM_005226	NP_005217	Q99500	S1PR3_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 3 (S1PR3), mRNA.	170					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.A170A(1)|p.G169G(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CACGCTGGGCGCCCTGCCCAT	0.557											OREG0019291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	91616623	G	A	91616623	3	1	146	1	0	0	0	0	1	0	0	0	13886	1087	38	1	510	1	S1PR3	9	91616623	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	70450376	91616623	49596808	44	9820											
SURF4	6836	broad.mit.edu	37	chr9	136230519	136230519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggaatggtccagaaggcGttgaaatatacgttgatggc	12	10	13	6	2	0	3	0	2	0	1	1	4	1	4	1	4	1	2	1	4	5	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:136230519G>A	uc004cdj.3	-	5	790	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SURF4_uc011mda.2_Silent_p.N211N|SURF4_uc010nal.3_3'UTR|SURF4_uc011mdd.2_3'UTR|SURF4_uc011mdb.2_Silent_p.N177N|SURF4_uc011mdc.2_Silent_p.N177N	NM_033161	NP_149351	O15260	SURF4_HUMAN	Homo sapiens surfeit 4 (SURF4), mRNA.	220						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		TCCAGAAGGCGTTGAAATATA	0.488													A	136230519	G	A	136230519	2	1	146	1	0	0	0	0	0	0	0	1	15501	1136	40	1		1	SURF4	9	136230519	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	44613896	136230519	4982912	45	9821											
LCN1	3933	broad.mit.edu	37	chr9	138415760	138415760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcatacatcatcaggtcGcacgtgaaggaccactacat	12	8	10	11	2	2	1	2	1	0	0	3	2	2	2	1	3	2	2	1	3	3	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr9:138415760G>A	uc022bpk.1	+	3	387	c.327G>A	c.(325-327)tcG>tcA	p.S109S	LCN1_uc022bpj.1_Silent_p.S109S|LCN1_uc004cfz.2_Silent_p.S109S|LCN1_uc004cga.2_Silent_p.S109S	NM_001252618	NP_001239547	P31025	LCN1_HUMAN	Homo sapiens lipocalin 1 (LCN1), transcript variant 3, mRNA.	109					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity	p.S109S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		TCATCAGGTCGCACGTGAAGG	0.602													A	138415760	G	A	138415760	2	1	146	1	0	0	0	0	0	0	0	1	8739	1074	38	1		1	LCN1	9	138415760	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	2185241	138415760	2797671	46	9822											
PTCHD3	374308	broad.mit.edu	37	chr10	27688091	27688091	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgaatagacattggacAtccgctctcgtatgtcatct	9	15	7	10	2	3	2	1	1	2	1	5	3	4	3	1	1	0	2	1	1	3	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr10:27688091A>T	uc001itu.2	-	3	1554	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	479	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						GACATTGGACATCCGCTCTCG	0.403													T	27688091	A	T	27688091	3	4	146	1	0	0	0	0	1	0	0	0	12819	217	8	5	871	5	PTCHD3	10	27688091	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08		27688091	107846656	47	9823											
TRIM3	10612	broad.mit.edu	37	chr11	6470405	6470405	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aggaaggagccagagctgtcGaatacctggggaaggagtgc	12	5	17	7	1	0	1	0	0	0	1	1	6	0	5	2	5	4	1	2	5	4	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:6470405G>C	uc001mdh.3	-	12	2484	c.2088C>G	c.(2086-2088)ttC>ttG	p.F696L	TRIM3_uc001mdi.3_Missense_Mutation_p.F696L|TRIM3_uc010raj.2_Missense_Mutation_p.F577L|TRIM3_uc009yfd.3_Missense_Mutation_p.F696L	NM_006458	NP_006449	O75382	TRIM3_HUMAN	Homo sapiens tripartite motif containing 3 (TRIM3), transcript variant 1, mRNA.	696					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding	p.F696L(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGAGCTGTCGAATACCTGGG	0.562													C	6470405	G	C	6470405	3	2	146	1	0	0	0	0	1	0	0	0	16605	1049	37	4	150	4	TRIM3	11	6470405	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		6470405	128536111	48	9824											
SYT9	143425	broad.mit.edu	37	chr11	7324279	7324279	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttgcagatatctcagTgagcctgctgacccttgtgg	6	14	10	11	0	2	3	1	2	2	1	3	3	2	3	2	1	3	2	2	1	1	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:7324279T>C	uc001mfe.3	+	1	392	c.155T>C	c.(154-156)gTg>gCg	p.V52A	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Non-coding_Transcript	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	52						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		GATATCTCAGTGAGCCTGCTG	0.537													C	7324279	T	C	7324279	3	2	146	1	0	0	0	0	1	0	0	0	15578	1696	59	3	161	3	SYT9	11	7324279	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	853874	7324279	127682237	49	9825											
ANO1	55107	broad.mit.edu	37	chr11	69924755	69924755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacgctcccggccgaggacCgcagcgtccacatcatcaac	9	4	10	18	6	2	0	2	0	0	0	4	3	4	1	4	2	2	2	4	2	1	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:69924755C>T	uc001opj.3	+	0	348	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	15					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGCCGAGGACCGCAGCGTCCA	0.731													T	69924755	C	T	69924755	3	4	146	1	0	0	0	0	1	0	0	0	695	652	23	1	45	1	ANO1	11	69924755	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	62600476	69924755	65081761	50	9826											
NOX4	50507	broad.mit.edu	37	chr11	89155085	89155085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccctgaaacatgcaacGtcagcagcatgtagaagaca	15	7	8	11	1	1	3	1	1	0	2	1	3	1	3	1	0	6	4	1	0	5	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:89155085G>A	uc001pct.3	-	7	853	c.614C>T	c.(613-615)aCg>aTg	p.T205M	NOX4_uc009yvr.3_Missense_Mutation_p.T180M|NOX4_uc001pcu.3_Missense_Mutation_p.T131M|NOX4_uc001pcw.3_Intron|NOX4_uc001pcx.3_Intron|NOX4_uc001pcv.3_Missense_Mutation_p.T205M|NOX4_uc009yvo.3_Non-coding_Transcript|NOX4_uc010rtu.2_Missense_Mutation_p.T39M|NOX4_uc009yvp.3_Missense_Mutation_p.T205M|NOX4_uc010rtv.2_Missense_Mutation_p.T181M|NOX4_uc009yvq.3_Missense_Mutation_p.T181M|NOX4_uc009yvs.1_Non-coding_Transcript	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	205	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity	p.T205T(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				AACATGCAACGTCAGCAGCAT	0.333													A	89155085	G	A	89155085	3	1	146	1	0	0	0	0	1	0	0	0	10634	1145	40	1	1166	1	NOX4	11	89155085	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	19230330	89155085	45851431	51	9827											
CASP1	114769	broad.mit.edu	37	chr11	104915384	104915384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctccttcaggaccttGtctgtttggagcacaaggat	7	14	9	11	0	4	0	1	0	3	0	5	3	4	3	2	3	1	2	2	3	1	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr11:104915384G>T	uc001pip.1	-	2	35	c.8_splice	c.e2-1	p.D3_splice	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_Splice_Site_p.D3_splice	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	3	CARD.				cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCAGGACCTTGTCTGTTTGGA	0.408													T	104915384	G	T	104915384	3	4	146	1	0	0	0	0	1	0	0	0	2694	1391	48	4		4	CASP1	11	104915384	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	15760299	104915384	30091132	52	9828											
OLR1	4973	broad.mit.edu	37	chr12	10319338	10319338	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgctactctcttcagtgTttcttggagattcagattct	7	19	7	8	0	5	2	2	0	3	2	6	3	5	2	0	1	2	2	0	1	1	7			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:10319338T>A	uc001qxo.1	-	2	511	c.397A>T	c.(397-399)Aca>Tca	p.T133S	OLR1_uc010sgz.1_Missense_Mutation_p.T29S|OLR1_uc021qvb.1_Missense_Mutation_p.T133S|OLR1_uc010sha.1_Missense_Mutation_p.T133S	NM_002543	NP_002534	P78380	OLR1_HUMAN	Homo sapiens oxidized low density lipoprotein (lectin-like) receptor 1 (OLR1), transcript variant 1, mRNA.	133	Neck.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						CTCTTCAGTGTTTCTTGGAGA	0.403													A	10319338	T	A	10319338	3	1	146	1	0	0	0	0	1	0	0	0	10939	1725	60	5	440	5	OLR1	12	10319338	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		10319338	123532557	53	9829											
CSRNP2	81566	broad.mit.edu	37	chr12	51457947	51457947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaggatgggctgttcaccGttgaggcagttgggtggtct	6	12	17	6	1	2	1	1	1	1	0	2	2	2	2	1	5	0	6	1	5	1	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:51457947G>A	uc021qxx.1	-	4	1726	c.1214C>T	c.(1213-1215)aCg>aTg	p.T405M	CSRNP2_uc001rxu.2_Missense_Mutation_p.T405M	NM_030809	NP_110436	Q9H175	CSRN2_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 2 (CSRNP2), transcript variant 1, mRNA.	405					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GCTGTTCACCGTTGAGGCAGT	0.567													A	51457947	G	A	51457947	3	1	146	1	0	0	0	0	1	0	0	0	3997	1145	40	1	421	1	CSRNP2	12	51457947	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	41138609	51457947	82393948	54	9830											
MYO1A	4640	broad.mit.edu	37	chr12	57430106	57430106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccatgctcttgtagatGaaatctgccaaggtgagggc	10	11	11	9	0	2	3	0	2	2	1	2	3	2	3	2	2	3	2	2	2	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:57430106G>T	uc001smw.4	-	21	2574	c.2334C>A	c.(2332-2334)ttC>ttA	p.F778L	MYO1A_uc010sqz.2_Missense_Mutation_p.F616L|MYO1A_uc009zpd.3_Missense_Mutation_p.F778L	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	778					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TCTTGTAGATGAAATCTGCCA	0.502													T	57430106	G	T	57430106	3	4	146	1	0	0	0	0	1	0	0	0	10144	1281	45	4	825	4	MYO1A	12	57430106	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	5972159	57430106	76421789	55	9831											
IL22	50616	broad.mit.edu	37	chr12	68646552	68646552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtagcttacactgactcCgtggaacagtttctccccaa	10	11	7	13	1	1	1	0	1	1	0	3	2	2	2	3	1	3	3	3	1	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68646552C>T	uc001sty.1	-	1	297	c.244G>A	c.(244-246)Gga>Aga	p.G82R	IL22_uc010stb.1_Missense_Mutation_p.G82R	NM_020525	NP_065386	Q9GZX6	IL22_HUMAN	Homo sapiens interleukin 22 (IL22), mRNA.	82					acute-phase response	extracellular space	cytokine activity|interleukin-22 receptor binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	14		Myeloproliferative disorder(1001;0.0255)	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;5.06e-05)|BRCA - Breast invasive adenocarcinoma(357;0.00104)		ACACTGACTCCGTGGAACAGT	0.498													T	68646552	C	T	68646552	3	4	146	1	0	0	0	0	1	0	0	0	7730	661	23	1	311	1	IL22	12	68646552	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	11216446	68646552	65205343	56	9832											
MDM1	56890	broad.mit.edu	37	chr12	68719231	68719231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaagctacctgattggctGcaaaagctggagcagtttct	11	12	10	8	0	1	1	0	1	1	0	1	2	1	2	1	2	5	6	1	2	4	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:68719231G>A	uc001stz.2	-	3	759	c.623C>T	c.(622-624)gCa>gTa	p.A208V	MDM1_uc009zqv.1_5'UTR|MDM1_uc010stc.1_Intron|MDM1_uc001sua.4_3'UTR|MDM1_uc010std.2_3'UTR	NM_017440	NP_059136	Q8TC05	MDM1_HUMAN	Homo sapiens Mdm1 nuclear protein homolog (mouse) (MDM1), transcript variant 1, mRNA.	208						nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		CTGATTGGCTGCAAAAGCTGG	0.338													A	68719231	G	A	68719231	3	1	146	1	0	0	0	0	1	0	0	0	9487	1319	46	2	1565	2	MDM1	12	68719231	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	72679	68719231	65132664	57	9833											
KCNC2	3747	broad.mit.edu	37	chr12	75444575	75444575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttgagctcccactctctCggcatagtagatcatggtag	9	11	11	10	1	2	2	1	1	1	1	5	2	3	2	1	3	1	5	1	3	3	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:75444575C>T	uc001sxg.1	-	2	1754	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	KCNC2_uc009zry.3_Missense_Mutation_p.E404K|KCNC2_uc001sxe.3_Missense_Mutation_p.E404K|KCNC2_uc001sxf.3_Missense_Mutation_p.E404K|KCNC2_uc010stw.1_Missense_Mutation_p.E404K	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	404					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						CCCACTCTCTCGGCATAGTAG	0.448													T	75444575	C	T	75444575	3	4	146	1	0	0	0	0	1	0	0	0	8073	893	31	1	784	1	KCNC2	12	75444575	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	6725344	75444575	58407320	58	9834											
RIMBP2	23504	broad.mit.edu	37	chr12	130927141	130927141	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttgccaaccgcgactcGttgtcctgcacaaagtccac	8	9	9	15	3	0	0	0	0	0	0	3	1	2	0	4	0	4	3	4	0	2	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:130927141G>A	uc001uil.2	-	7	921	c.705C>T	c.(703-705)aaC>aaT	p.N235N	RIMBP2_uc001uim.3_Silent_p.N143N	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	235						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		ACCGCGACTCGTTGTCCTGCA	0.582													A	130927141	G	A	130927141	2	1	146	1	0	0	0	0	0	0	0	1	13452	1136	40	1		1	RIMBP2	12	130927141	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	55482566	130927141	2924754	59	9835											
EP400	57634	broad.mit.edu	37	chr12	132490816	132490816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtggctgaagccatccTgccgaagggcagtgctcggg	6	7	17	11	3	0	1	0	1	0	0	2	2	1	1	3	4	4	3	3	4	2	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr12:132490816T>G	uc001ujn.3	+	13	3247	c.3095T>G	c.(3094-3096)cTg>cGg	p.L1032R	EP400_uc021rgq.1_Missense_Mutation_p.L1031R|EP400_uc001ujm.3_Missense_Mutation_p.L1032R	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1068	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.P1032P(1)		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)		GAAGCCATCCTGCCGAAGGGC	0.542													G	132490816	T	G	132490816	3	3	146	1	0	0	0	0	1	0	0	0	5190	1580	55	5	3142	5	EP400	12	132490816	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08	1563675	132490816	1361079	60	9836											
TSSK4	283629	broad.mit.edu	37	chr14	24675764	24675764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaacttctatcgggccaTtgagagcacatctcgagtat	11	11	8	11	2	3	1	1	1	2	1	5	3	3	1	1	1	2	2	1	1	3	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:24675764T>C	uc001wnh.3	+	1	479	c.275T>C	c.(274-276)aTt>aCt	p.I92T	TM9SF1_uc010tob.1_Intron|TSSK4_uc001wne.3_Missense_Mutation_p.I16T|TSSK4_uc001wnf.3_5'UTR|TSSK4_uc001wng.3_Missense_Mutation_p.I92T	NM_001184739	NP_001171668	Q6SA08	TSSK4_HUMAN	Homo sapiens testis-specific serine kinase 4 (TSSK4), transcript variant 1, mRNA.	92	Protein kinase.				cell differentiation|multicellular organismal development|positive regulation of CREB transcription factor activity|spermatogenesis		ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8				GBM - Glioblastoma multiforme(265;0.018)		TATCGGGCCATTGAGAGCACA	0.532													C	24675764	T	C	24675764	3	2	146	1	0	0	0	0	1	0	0	0	16772	1493	52	3	281	3	TSSK4	14	24675764	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		24675764	82673776	61	9837											
LTBP2	4053	broad.mit.edu	37	chr14	74969471	74969471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggcaggctcagggacGgtgtcctcggggcccaggta	7	5	19	10	2	1	0	1	0	0	0	3	2	2	2	2	8	0	3	2	8	2	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:74969471G>A	uc001xqa.3	-	33	5442	c.5055C>T	c.(5053-5055)acC>acT	p.T1685T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1685					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GCTCAGGGACGGTGTCCTCGG	0.637													A	74969471	G	A	74969471	2	1	146	1	0	0	0	0	0	0	0	1	9144	1103	39	1		1	LTBP2	14	74969471	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	50293707	74969471	32380069	62	9838											
PROX2	283571	broad.mit.edu	37	chr14	75329549	75329549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagtcaagggaaagtttGctgggggatcctgacagggt	9	9	17	6	0	1	1	1	1	0	0	2	3	2	3	1	4	2	3	1	4	2	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr14:75329549G>C	uc021rwo.1	-	0	989	c.989C>G	c.(988-990)gCa>gGa	p.A330G	PROX2_uc001xqp.2_Missense_Mutation_p.A330G|PROX2_uc001xqq.2_Intron	NM_001080408	NP_001229936	Q3B8N5	PROX2_HUMAN	Homo sapiens prospero homeobox 2 (PROX2), transcript variant 2, mRNA.	330					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		GGGAAAGTTTGCTGGGGGATC	0.502													C	75329549	G	C	75329549	3	2	146	1	0	0	0	0	1	0	0	0	12647	1319	46	4	805	4	PROX2	14	75329549	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	360078	75329549	32019991	63	9839											
MESDC2	23184	broad.mit.edu	37	chr15	81282094	81282094	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggtcagaggcacaaagCaggaccacggccttgcgcgc	11	3	14	13	3	1	1	1	0	0	1	1	2	1	2	2	4	3	3	2	4	1	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr15:81282094C>A	uc002bfy.1	-	0	112	c.39G>T	c.(37-39)ctG>ctT	p.L13L	MESDC2_uc002bfx.3_Non-coding_Transcript|MESDC2_uc010uno.2_Non-coding_Transcript	NM_015154	NP_055969	Q14696	MESD_HUMAN	Homo sapiens mesoderm development candidate 2 (MESDC2), mRNA.	13	Chaperone domain (By similarity).				mesoderm development|protein folding|Wnt receptor signaling pathway	endoplasmic reticulum				cervix(1)|large_intestine(5)|ovary(1)|urinary_tract(1)	8						AGGCACAAAGCAGGACCACGG	0.721													A	81282094	C	A	81282094	2	1	146	1	0	0	0	0	0	0	0	1	9556	697	25	4		4	MESDC2	15	81282094	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08		81282094	21249298	64	9840											
CPPED1	55313	broad.mit.edu	37	chr16	12875067	12875067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcgtggatgaggtcgccGcacagaacgaagaatttggg	11	7	16	7	4	0	3	0	1	0	2	1	5	0	4	1	4	1	1	1	4	3	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:12875067G>A	uc002dca.4	-	1	375	c.264C>T	c.(262-264)tgC>tgT	p.C88C	CPPED1_uc002dcb.4_Silent_p.C88C	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	88							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGAGGTCGCCGCACAGAACGA	0.532													A	12875067	G	A	12875067	2	1	146	1	0	0	0	0	0	0	0	1	3853	1079	38	1		1	CPPED1	16	12875067	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08		12875067	77479686	65	9841											
CIRH1A	84916	broad.mit.edu	37	chr16	69201051	69201051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagatgtcatccggaggcGcacagctcatgcttttaaaa	12	10	9	10	2	3	1	3	0	0	1	4	2	4	2	1	2	2	3	1	2	2	2	rs34057086	byFrequency	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr16:69201051G>A	uc002ews.4	+	15	2003	c.1907G>A	c.(1906-1908)cGc>cAc	p.R636H	CIRH1A_uc002ewr.2_3'UTR|CIRH1A_uc002ewt.4_Missense_Mutation_p.R553H|CIRH1A_uc010cfi.3_Missense_Mutation_p.R438H	NM_032830	NP_116219	Q969X6	CIR1A_HUMAN	Homo sapiens cirrhosis, autosomal recessive 1A (cirhin) (CIRH1A), mRNA.	636						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		ATCCGGAGGCGCACAGCTCAT	0.348													A	69201051	G	A	69201051	3	1	146	1	0	0	0	0	1	0	0	0	3464	1087	38	1	1965	1	CIRH1A	16	69201051	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	56325984	69201051	21153702	66	9842											
MYH2	4620	broad.mit.edu	37	chr17	10430055	10430055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcatactgttcccGcagcaggtcacagtcgtggc	6	10	9	16	2	2	0	2	0	0	0	6	0	5	0	3	2	2	3	3	2	1	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:10430055G>A	uc010coi.3	-	29	4176	c.4048C>T	c.(4048-4050)Cgg>Tgg	p.R1350W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1350W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1350					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TACTGTTCCCGCAGCAGGTCA	0.547													A	10430055	G	A	10430055	3	1	146	1	0	0	0	0	1	0	0	0	10111	1086	38	1	1821	1	MYH2	17	10430055	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		10430055	70765155	67	9843											
JMJD6	23210	broad.mit.edu	37	chr17	74721588	74721588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccccagcatactggaaaAggtcatcagtgaaaaacttt	14	10	7	10	0	3	1	2	1	1	0	4	2	3	2	2	2	3	1	2	2	5	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr17:74721588A>G	uc002jso.3	-	1	803	c.479T>C	c.(478-480)cTt>cCt	p.L160P	JMJD6_uc002jsn.1_Missense_Mutation_p.L160P|METTL23_uc021udk.1_5'Flank|METTL23_uc002jsr.3_5'Flank|METTL23_uc021udl.1_5'Flank|METTL23_uc021udm.1_5'Flank|METTL23_uc002jst.3_5'Flank|METTL23_uc021udn.1_5'Flank|METTL23_uc002jsu.3_5'Flank	NM_015167	NP_055982	Q6NYC1	JMJD6_HUMAN	Homo sapiens jumonji domain containing 6 (JMJD6), transcript variant 2, mRNA.	160	JmjC.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						ATACTGGAAAAGGTCATCAGT	0.393													G	74721588	A	G	74721588	3	3	146	1	0	0	0	0	1	0	0	0	8011	72	3	3	793	3	JMJD6	17	74721588	Missense_Mutation	SNP	A	TCGA-15-0742-01A-01W-0348-08	64291533	74721588	6473622	68	9844											
PTPRM	5797	broad.mit.edu	37	chr18	7888281	7888281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcaataacgggccacTggggaatcctatctggaata	13	8	12	8	1	2	0	1	0	1	0	3	3	3	2	2	5	1	0	2	5	7	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:7888281T>A	uc002knn.4	+	2	877	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	PTPRM_uc010dkv.3_Missense_Mutation_p.L125Q	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	125	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AACGGGCCACTGGGGAATCCT	0.453													A	7888281	T	A	7888281	3	1	146	1	0	0	0	0	1	0	0	0	12894	1580	55	5	384	5	PTPRM	18	7888281	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		7888281	70188967	69	9845											
CTAGE1	64693	broad.mit.edu	37	chr18	19997860	19997860	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttagccctaggctcctccGtagcgccaaggctgctctgg	5	9	13	14	2	1	0	0	0	1	0	3	0	3	0	4	4	3	5	4	4	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:19997860G>A	uc002ktv.1	-	0						NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGGCTCCTCCGTAGCGCCAAG	0.587													A	19997860	G	A	19997860	1	1	146	1	0	0	0	0	0	0	0	0	4025	1160	40	1		1	CTAGE1	18	19997860	Translation_Start_Site	SNP	G	TCGA-15-0742-01A-01W-0348-08	12109579	19997860	58079388	70	9846											
DCC	1630	broad.mit.edu	37	chr18	50734176	50734176	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgatataacagtggttaCactttctgacggtaagttaa	13	14	9	5	1	1	3	0	3	1	0	1	3	1	3	0	2	2	3	0	2	5	6			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr18:50734176C>G	uc002lfe.2	+	10	2466	c.1850C>G	c.(1849-1851)aCa>aGa	p.T617R	DCC_uc010xdr.1_Missense_Mutation_p.T465R|DCC_uc010dpf.2_Missense_Mutation_p.T272R	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	617					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACAGTGGTTACACTTTCTGAC	0.338													G	50734176	C	G	50734176	3	3	146	1	0	0	0	0	1	0	0	0	4316	478	17	4	1892	4	DCC	18	50734176	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	30736316	50734176	27343072	71	9847											
MUC16	94025	broad.mit.edu	37	chr19	9067947	9067947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacagagggtgggcttGtccctgatatgtactcagga	8	12	12	9	0	1	2	1	1	0	1	3	3	3	3	2	3	1	2	2	3	2	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:9067947G>C	uc002mkp.3	-	2	19703	c.19499C>G	c.(19498-19500)aCa>aGa	p.T6500R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6502	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						GGGTGGGCTTGTCCCTGATAT	0.468													C	9067947	G	C	9067947	3	2	146	1	0	0	0	0	1	0	0	0	10049	1377	48	4	24352	4	MUC16	19	9067947	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		9067947	50061036	72	9848											
GAPDHS	26330	broad.mit.edu	37	chr19	36029512	36029512	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgactccacccacggcCgatacaagggaagtgtggaa	13	6	12	10	2	0	1	0	1	0	0	1	4	1	3	3	3	1	1	3	3	5	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:36029512C>T	uc002oaf.1	+	3	492	c.376C>T	c.(376-378)Cga>Tga	p.R126*		NM_014364	NP_055179	O14556	G3PT_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase, spermatogenic (GAPDHS), mRNA.	126					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CACCCACGGCCGATACAAGGG	0.522													T	36029512	C	T	36029512	4	4	146	1	0	0	0	0	0	1	0	0	6291	644	23	1	390	1	GAPDHS	19	36029512	Nonsense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	26961565	36029512	23099471	73	9849											
NLRP5	126206	broad.mit.edu	37	chr19	56539808	56539808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccgtatttgcggaaaattCgggtggatgtcaaagggatc	10	11	14	6	3	1	0	1	0	0	0	4	3	2	3	1	4	1	1	1	4	4	3			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr19:56539808C>T	uc002qmj.3	+	6	2209	c.2209C>T	c.(2209-2211)Cgg>Tgg	p.R737W	NLRP5_uc002qmi.3_Missense_Mutation_p.R718W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	737						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GCGGAAAATTCGGGTGGATGT	0.498													T	56539808	C	T	56539808	3	4	146	1	0	0	0	0	1	0	0	0	10556	875	31	1	2235	1	NLRP5	19	56539808	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	20510296	56539808	2589175	74	9850											
TMC2	117532	broad.mit.edu	37	chr20	2539347	2539347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagggcctccttccaggagCggacagcagccccaaagagg	11	3	14	13	1	0	2	0	0	0	2	2	4	2	4	5	4	3	1	5	4	1	1			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:2539347C>T	uc002wgf.1	+	2	343	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	TMC2_uc002wgg.1_Missense_Mutation_p.R94W|TMC2_uc010zpw.1_5'UTR|TMC2_uc010zpx.1_5'UTR	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN	Homo sapiens transmembrane channel-like 2 (TMC2), mRNA.	110	Arg/Asp/Glu/Lys-rich (highly charged).					integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTCCAGGAGCGGACAGCAGC	0.622													T	2539347	C	T	2539347	3	4	146	1	0	0	0	0	1	0	0	0	16085	759	27	1	338	1	TMC2	20	2539347	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		2539347	60486173	75	9851											
C20orf111	51526	broad.mit.edu	37	chr20	42826177	42826177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaagtagagctttctcCtgcactgaactctttagggg	10	11	12	8	0	2	3	0	1	2	2	3	5	2	3	1	2	3	3	1	2	4	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:42826177C>T	uc002xlk.3	-	3	646	c.394G>A	c.(394-396)Gga>Aga	p.G132R		NM_016470	NP_057554	Q9NX31	CT111_HUMAN	Homo sapiens chromosome 20 open reading frame 111 (C20orf111), mRNA.	132										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	14		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGCTTTCTCCTGCACTGAAC	0.498													T	42826177	C	T	42826177	3	4	146	1	0	0	0	0	1	0	0	0	2101	690	24	2	488	2	C20orf111	20	42826177	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	40286830	42826177	20199343	76	9852											
PCK1	5105	broad.mit.edu	37	chr20	56138743	56138743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggtggaaggttgagtgCgtcggggatgacattgcctg	6	9	18	8	3	0	2	0	2	0	0	1	4	0	4	2	5	2	1	2	5	1	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr20:56138743C>T	uc002xyn.4	+	5	1084	c.921C>T	c.(919-921)tgC>tgT	p.C307C	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	307					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AGGTTGAGTGCGTCGGGGATG	0.567													T	56138743	C	T	56138743	2	4	146	1	0	0	0	0	0	0	0	1	11657	776	27	1		1	PCK1	20	56138743	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	13312566	56138743	6886777	77	9853											
C2CD2	25966	broad.mit.edu	37	chr21	43327136	43327136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccctccccacgtcgacgCgaggcttggtcttcacagca	7	7	10	17	5	2	0	1	0	1	0	4	2	3	0	3	2	1	2	3	2	0	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43327136C>T	uc002yzw.3	-	9	1525	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	C2CD2_uc002yzt.3_Missense_Mutation_p.R44H|C2CD2_uc002yzu.3_Missense_Mutation_p.R260H|C2CD2_uc002yzv.3_Missense_Mutation_p.R273H|C2CD2_uc002yzx.1_Missense_Mutation_p.R273H	NM_015500	NP_950251	Q9Y426	CU025_HUMAN	Homo sapiens C2 calcium-dependent domain containing 2 (C2CD2), transcript variant 1, mRNA.	428						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CACGTCGACGCGAGGCTTGGT	0.592													T	43327136	C	T	43327136	3	4	146	1	0	0	0	0	1	0	0	0	2173	768	27	1	827	1	C2CD2	21	43327136	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08		43327136	4802759	78	9854											
ABCG1	9619	broad.mit.edu	37	chr21	43711761	43711761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagccgcctccacgtccCtgcaggtgccagcccaggag	6	5	13	17	3	0	0	0	0	0	0	3	2	2	2	6	3	4	1	6	3	0	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:43711761C>T	uc011aev.2	+	12	1791	c.1717C>T	c.(1717-1719)Ctg>Ttg	p.L573L	ABCG1_uc002zam.3_Silent_p.L528L|ABCG1_uc002zan.3_Silent_p.L552L|ABCG1_uc002zao.3_Silent_p.L547L|ABCG1_uc002zap.3_Silent_p.L550L|ABCG1_uc002zaq.3_Silent_p.L562L|ABCG1_uc002zar.3_Silent_p.L561L|ABCG1_uc010gpb.2_Missense_Mutation_p.P202L	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	562	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CTCCACGTCCCTGCAGGTGCC	0.677													T	43711761	C	T	43711761	2	4	146	1	0	0	0	0	0	0	0	1	68	680	24	2		2	ABCG1	21	43711761	Silent	SNP	C	TCGA-15-0742-01A-01W-0348-08	384625	43711761	4418134	79	9855											
ITGB2	3689	broad.mit.edu	37	chr21	46320283	46320283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggtgacagcggccGtcgttgggggtcaggatggc	5	8	17	11	3	1	1	1	1	0	0	4	2	3	2	3	6	1	1	3	6	0	1	rs35013643	by1000genomes	TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320283G>A	uc002zgd.2	-	5	893	c.849C>T	c.(847-849)gaC>gaT	p.D283D	ITGB2_uc002zgf.3_Silent_p.D283D|ITGB2_uc011afl.1_Silent_p.D205D|ITGB2_uc010gpw.2_Silent_p.D226D|ITGB2_uc002zgg.2_Silent_p.D283D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	283	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	p.N282fs*41(1)		breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GACAGCGGCCGTCGTTGGGGG	0.642													A	46320283	G	A	46320283	2	1	146	1	0	0	0	0	0	0	0	1	7952	1136	40	1		1	ITGB2	21	46320283	Silent	SNP	G	TCGA-15-0742-01A-01W-0348-08	2608522	46320283	1809612	80	9856											
ITGB2	3689	broad.mit.edu	37	chr21	46320342	46320342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgaaatggaagccgtcatCagtggcaaacaccagcagcc	13	4	11	13	3	2	0	2	0	0	0	2	2	2	1	3	2	4	2	3	2	3	0			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr21:46320342C>A	uc002zgd.2	-	5	834	c.790G>T	c.(790-792)Gat>Tat	p.D264Y	ITGB2_uc002zgf.3_Missense_Mutation_p.D264Y|ITGB2_uc011afl.1_Missense_Mutation_p.D186Y|ITGB2_uc010gpw.2_Missense_Mutation_p.D207Y|ITGB2_uc002zgg.2_Missense_Mutation_p.D264Y	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	264	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	AAGCCGTCATCAGTGGCAAAC	0.627													A	46320342	C	A	46320342	3	1	146	1	0	0	0	0	1	0	0	0	7952	826	29	4	1559	4	ITGB2	21	46320342	Missense_Mutation	SNP	C	TCGA-15-0742-01A-01W-0348-08	59	46320342	1809553	81	9857											
INPP5J	27124	broad.mit.edu	37	chr22	31523945	31523945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaacagcctcgtgtTctggttcggggacctgaact	8	9	10	14	2	1	1	0	1	1	0	3	2	1	2	4	3	3	2	4	3	2	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:31523945T>A	uc003aju.4	+	6	1888	c.1796T>A	c.(1795-1797)tTc>tAc	p.F599Y	INPP5J_uc003ajw.3_Missense_Mutation_p.F35Y|INPP5J_uc003ajt.4_Missense_Mutation_p.F231Y|INPP5J_uc003ajv.4_Missense_Mutation_p.F232Y|INPP5J_uc003ajs.4_Missense_Mutation_p.F232Y|INPP5J_uc011alk.2_Missense_Mutation_p.F532Y|INPP5J_uc010gwg.3_Missense_Mutation_p.F164Y	NM_001002837	NP_001002837	Q15735	PI5PA_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase J (INPP5J), mRNA.	599	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						AGCCTCGTGTTCTGGTTCGGG	0.577													A	31523945	T	A	31523945	3	1	146	1	0	0	0	0	1	0	0	0	7817	1783	62	5	718	5	INPP5J	22	31523945	Missense_Mutation	SNP	T	TCGA-15-0742-01A-01W-0348-08		31523945	19780621	82	9858											
DEPDC5	9681	broad.mit.edu	37	chr22	32239728	32239728	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtggaattctcccacGaacggctggaggagtacaag	10	7	15	9	2	1	0	0	0	1	0	2	4	1	3	1	5	2	3	1	5	4	2			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chr22:32239728G>T	uc011alu.2	+	28	2933	c.2731G>T	c.(2731-2733)Gaa>Taa	p.E911*	DEPDC5_uc011als.2_Nonsense_Mutation_p.E833*|DEPDC5_uc003als.3_Nonsense_Mutation_p.E902*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.E902*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.E351*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.E232*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.E200*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	902					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ATTCTCCCACGAACGGCTGGA	0.498													T	32239728	G	T	32239728	4	4	146	1	0	0	0	0	0	1	0	0	4481	1059	37	4	2832	4	DEPDC5	22	32239728	Nonsense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	715783	32239728	19064838	83	9859											
MAGEB1	4112	broad.mit.edu	37	chrX	30269614	30269614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacgacttttagagcgcGttctagagccccattcagca	9	10	9	13	3	2	2	1	0	1	2	2	3	2	2	3	0	4	2	3	0	2	5			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:30269614G>A	uc022buh.1	+	0	1004	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	MAGEB1_uc004dcc.3_Missense_Mutation_p.R335H|MAGEB1_uc004dcd.3_Missense_Mutation_p.R335H|MAGEB1_uc004dce.3_Missense_Mutation_p.R335H	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	335										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TTTAGAGCGCGTTCTAGAGCC	0.507													A	30269614	G	A	30269614	3	1	146	1	0	0	0	0	1	0	0	0	9247	1145	40	1	1006	1	MAGEB1	23	30269614	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08		30269614	125000946	84	9860											
GRIA3	2892	broad.mit.edu	37	chrX	122460032	122460032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgatacttgattgactgcGaagtcgaaaggattaacaca	15	9	10	7	3	0	2	0	2	0	0	1	6	0	3	0	1	4	0	0	1	4	4			TCGA-15-0742-01A-01W-0348-08	TCGA-15-0742-10A-01W-0348-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c015456-02f0-4473-be25-b53166da41ea	141031c5-2359-4c57-8982-a1ea3c57d411	g.chrX:122460032G>A	uc004etq.4	+	3	956	c.664G>A	c.(664-666)Gaa>Aaa	p.E222K	GRIA3_uc004etr.4_Missense_Mutation_p.E222K|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.E206K	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	222					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GATTGACTGCGAAGTCGAAAG	0.423													A	122460032	G	A	122460032	3	1	146	1	0	0	0	0	1	0	0	0	6824	1059	37	1	678	1	GRIA3	23	122460032	Missense_Mutation	SNP	G	TCGA-15-0742-01A-01W-0348-08	92190418	122460032	32810528	85	9861											
MACF1	23499	broad.mit.edu	37	chr1	39761487	39761487	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgtccagtcccagtTgcagtggatgaagcagctgt	7	11	13	10	0	0	1	0	1	0	0	2	2	2	2	2	1	5	6	2	1	1	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:39761487T>G	uc021olt.1	+	18	2355	c.2303T>G	c.(2302-2304)tTg>tGg	p.L768W	MACF1_uc021ols.1_Missense_Mutation_p.L768W|MACF1_uc001cdc.2_Missense_Mutation_p.L768W|MACF1_uc001cda.1_Missense_Mutation_p.L676W	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	768					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.K768K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAGTCCCAGTTGCAGTGGATG	0.433													G	39761487	T	G	39761487	3	3	147	1	0	0	0	0	1	0	0	0	9215	1821	63	5	2377	5	MACF1	1	39761487	Missense_Mutation	SNP	T	TCGA-15-1444-01A-02D-1696-08		39761487	209489134	1	9862											
PRG4	10216	broad.mit.edu	37	chr1	186277611	186277614	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															acagctaaagacaagacaacAgaaagagacttacgtactac																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr1:186277611_186277614delAGAA	uc001gru.4	+	6	2811_2814	c.2760_2763delAGAA	c.(2758-2763)acagaafs	p.T920fs	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Frame_Shift_Del_p.T879fs|PRG4_uc009wyl.3_Frame_Shift_Del_p.T827fs|PRG4_uc009wym.3_Frame_Shift_Del_p.T786fs|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	920					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			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						ACAAGACAACAGAAAGAGACTTAC	0.412													-	186277614	AGAA	-	186277611	7	5	147	1	0	1	0	1	0	0	0	0	12567	175	7	0	2782	0	PRG4	1	186277611	Frame_Shift_Del	DEL	AGAA	TCGA-15-1444-01A-02D-1696-08	146516124	186277611	62973010	2	9863											
ALK	238	broad.mit.edu	37	chr2	29917797	29917797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcggaggggatgcggcGccaggaccagctctggttcc	5	7	15	14	3	1	0	0	0	1	0	4	3	3	3	4	6	2	2	4	6	0	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:29917797G>A	uc002rmy.3	-	2	1823	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C		NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	291	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GGGATGCGGCGCCAGGACCAG	0.602			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				A	29917797	G	A	29917797	3	1	147	1	0	0	0	0	1	0	0	0	525	1087	38	1	4099	1	ALK	2	29917797	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		29917797	213281576	3	9864											
SFTPB	6439	broad.mit.edu	37	chr2	85892915	85892915	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatacagatgccgtttgaGtcctggggcacagcacaggg	9	8	14	10	1	0	2	0	1	0	1	1	2	1	2	2	3	4	4	2	3	1	2			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:85892915G>A	uc002sqj.3	-	5	532	c.432C>T	c.(430-432)gaC>gaT	p.D144D	SFTPB_uc002sqi.3_Silent_p.D144D|SFTPB_uc002sqh.3_Silent_p.D144D	NM_000542	NP_942140	P07988	PSPB_HUMAN	Homo sapiens surfactant protein B (SFTPB), transcript variant 1, mRNA.	132	Saposin B-type 1.				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						TGCCGTTTGAGTCCTGGGGCA	0.642													A	85892915	G	A	85892915	2	1	147	1	0	0	0	0	0	0	0	1	14284	1020	36	2		2	SFTPB	2	85892915	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	55975118	85892915	157306458	4	9865											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr2:209113113G>C	uc002vcs.3	-	3	640	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_uc002vct.3_Missense_Mutation_p.R132G|IDH1_uc002vcu.3_Missense_Mutation_p.R132G	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(3651)|p.R132C(1036)|p.R132G(298)|p.R132S(246)|p.R132?(189)|p.R132L(71)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	147	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08	123220198	209113113	34086260	5	9866											
DNAJC13	23317	broad.mit.edu	37	chr3	132198097	132198097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gataaacttgaacgagatagGttgattctcttccttaacaa	14	13	7	7	1	1	3	0	2	1	1	3	5	2	3	1	1	3	1	1	1	6	7	rs61748099	byFrequency	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr3:132198097G>A	uc003eor.3	+	24	2801	c.2736G>A	c.(2734-2736)agG>agA	p.R912R		NM_015268	NP_056083	O75165	DJC13_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 13 (DNAJC13), mRNA.	912							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AACGAGATAGGTTGATTCTCT	0.294													A	132198097	G	A	132198097	2	1	147	1	0	0	0	0	0	0	0	1	4671	1252	44	2		2	DNAJC13	3	132198097	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08		132198097	65824333	6	9867											
WDR1	9948	broad.mit.edu	37	chr4	10080542	10080542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattgccaccgtgtccccGccggggtgcactgccacaac	7	6	10	18	3	0	0	0	0	0	0	1	0	1	0	7	2	4	1	7	2	2	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:10080542G>A	uc021xlv.1	-	11	1651	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	WDR1_uc021xlw.1_Silent_p.G316G|WDR1_uc010idm.3_Non-coding_Transcript|MIR3138_uc021xlx.1_5'Flank	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	456					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCGTGTCCCCGCCGGGGTGCA	0.592													A	10080542	G	A	10080542	2	1	147	1	0	0	0	0	0	0	0	1	17374	1074	38	1		1	WDR1	4	10080542	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08		10080542	181073734	7	9868											
FRYL	285527	broad.mit.edu	37	chr4	48621289	48621289	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagaaataaaagagcttAcctgctttagaacttcaact	15	12	6	8	0	1	3	1	0	0	3	1	3	1	3	1	0	6	3	1	0	7	6			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:48621289A>G	uc003gyh.1	-	7	1016	c.411_splice	c.e7+1	p.Q137_splice	FRYL_uc003gyk.3_Splice_Site_p.Q137_splice|FRYL_uc003gyl.1_Missense_Mutation_p.V189A	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAAAGAGCTTACCTGCTTTAG	0.363													G	48621289	A	G	48621289	5	3	147	1	0	0	0	0	0	0	1	0	6116	405	14	3	8860	3	FRYL	4	48621289	Splice_Site	SNP	A	TCGA-15-1444-01A-02D-1696-08	38540747	48621289	142532987	8	9869											
NFKB1	4790	broad.mit.edu	37	chr4	103518775	103518775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaagatgctgctggccGtccagcgccatctcactgct	7	9	11	14	3	1	2	1	1	1	1	3	2	2	2	3	1	4	3	3	1	1	0	rs139575566		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr4:103518775G>A	uc011ceq.2	+	14	2058	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I	NFKB1_uc011cep.2_Missense_Mutation_p.V532I|NFKB1_uc011cer.2_Missense_Mutation_p.V351I	NM_001165412	NP_001158884	P19838	NFKB1_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 1 (NFKB1), transcript variant 2, mRNA.	531	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.V532I(1)		biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGCTGGCCGTCCAGCGCCA	0.522													A	103518775	G	A	103518775	3	1	147	1	0	0	0	0	1	0	0	0	10451	1145	40	1	1648	1	NFKB1	4	103518775	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08	54897486	103518775	87635501	9	9870											
PIK3R1	5295	broad.mit.edu	37	chr5	67591098	67591109	+	In_Frame_Del	DEL	ACAGCATTAAAC	ACAGCATTAAAC	-																															agaaattgacaaacgtatgaAcagcattaaaccagacctta																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr5:67591098_67591109delACAGCATTAAAC	uc003jva.3	+	12	2271_2282	c.1691_1702delACAGCATTAAAC	c.(1690-1704)aacagcattaaacca>aca	p.564_568NSIKP>T	PIK3R1_uc003jvc.3_In_Frame_Del_p.264_268NSIKP>T|PIK3R1_uc003jvd.3_In_Frame_Del_p.294_298NSIKP>T|PIK3R1_uc003jve.3_In_Frame_Del_p.243_247NSIKP>T|PIK3R1_uc021xzn.1_In_Frame_Del_p.201_205NSIKP>T|PIK3R1_uc011crb.2_In_Frame_Del_p.234_238NSIKP>T	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.N564K(4)|p.K567E(3)|p.D560_S565del(2)|p.K567_L570delKPDL(2)|p.R562_M563ins13(1)|p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.N294K(1)|p.N264K(1)|p.K267E(1)|p.K297_L300delKPDL(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAACGTATGAACAGCATTAAACCAGACCTTAT	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591109	ACAGCATTAAAC	-	67591098	7	5	147	1	0	1	0	1	0	0	0	0	11995	43	2	0	1867	0	PIK3R1	5	67591098	In_Frame_Del	DEL	ACAGCATTAAAC	TCGA-15-1444-01A-02D-1696-08		67591098	113324162	10	9871											
GRINA	2907	broad.mit.edu	37	chr8	145065758	145065758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacaggtcttcccaggaCaagaccctgactgtgagtct	10	8	10	13	0	2	3	0	2	2	1	3	4	3	4	3	2	1	0	3	2	1	1			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr8:145065758C>G	uc003zan.1	+	1	533	c.367C>G	c.(367-369)Caa>Gaa	p.Q123E	GRINA_uc003zao.1_Missense_Mutation_p.Q123E|GRINA_uc003zap.1_Missense_Mutation_p.Q123E	NM_001009184	NP_001009184	Q7Z429	GRINA_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding) (GRINA), transcript variant 2, mRNA.	123	Pro-rich.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCCCAGGACAAGACCCTGA	0.672													G	145065758	C	G	145065758	3	3	147	1	0	0	0	0	1	0	0	0	6840	479	17	4	369	4	GRINA	8	145065758	Missense_Mutation	SNP	C	TCGA-15-1444-01A-02D-1696-08		145065758	1298264	11	9872											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr9:12702411_12702414delACAA	uc003zkv.4	+	4	1232_1235	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.T352fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				-	12702414	ACAA	-	12702411	7	5	147	1	0	1	0	1	0	0	0	0	16918	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-15-1444-01A-02D-1696-08		12702411	128511020	12	9873											
ITIH2	3698	broad.mit.edu	37	chr10	7771922	7771922	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccaactttaggcgaactAaaactgtcaaaaattcagaa	18	9	5	9	1	3	1	3	0	0	1	3	2	3	1	1	1	3	0	1	1	8	4			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr10:7771922A>T	uc001ijs.3	+	11	1449	c.1287A>T	c.(1285-1287)ctA>ctT	p.L429L		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	429	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGGCGAACTAAAACTGTCAA	0.373													T	7771922	A	T	7771922	2	4	147	1	0	0	0	0	0	0	0	1	7962	349	13	5		5	ITIH2	10	7771922	Silent	SNP	A	TCGA-15-1444-01A-02D-1696-08		7771922	127762825	13	9874											
CLPB	81570	broad.mit.edu	37	chr11	72012979	72012979	+	Frame_Shift_Del	DEL	G	G	-																															ccctcctcatggccaacgtaGcctggtggagacccaataaa																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:72012979delG	uc001osj.3	-	11	1337	c.1287delC	c.(1285-1287)ggcfs	p.G429fs	CLPB_uc010rqx.2_Frame_Shift_Del_p.G384fs|CLPB_uc010rqy.2_Frame_Shift_Del_p.G370fs|CLPB_uc001osk.3_Frame_Shift_Del_p.G399fs|CLPB_uc010rqz.2_Frame_Shift_Del_p.G228fs|CLPB_uc001osi.3_Frame_Shift_Del_p.G37fs	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	429					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						GGCCAACGTAGCCTGGTGGAG	0.522													-	72012979	G	-	72012979	7	5	147	1	0	1	0	1	0	0	0	0	3582	958	34	0	860	0	CLPB	11	72012979	Frame_Shift_Del	DEL	G	TCGA-15-1444-01A-02D-1696-08		72012979	62993537	14	9875											
HEPHL1	341208	broad.mit.edu	37	chr11	93844970	93844970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccttctaatcaccacGgtgattctctccctcagact	7	13	4	17	1	4	2	2	1	2	1	8	2	7	2	4	1	0	0	4	1	1	3	rs118037969	by1000genomes	TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr11:93844970G>A	uc001pep.2	+	19	3547	c.3390G>A	c.(3388-3390)acG>acA	p.T1130T	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1130					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.L1130P(1)|p.T1134T(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TAATCACCACGGTGATTCTCT	0.507													A	93844970	G	A	93844970	2	1	147	1	0	0	0	0	0	0	0	1	7110	1103	39	1		1	HEPHL1	11	93844970	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	21831991	93844970	41161546	15	9876											
AMN1	196394	broad.mit.edu	37	chr12	31850308	31850308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattacctctaatttcttcGcacaaggtccactaacaagt	14	12	4	11	1	2	0	0	0	2	0	4	0	3	0	2	1	2	1	2	1	6	5			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:31850308G>A	uc001rkq.4	-	4	744	c.578C>T	c.(577-579)gCg>gTg	p.A193V	AMN1_uc001rko.4_Missense_Mutation_p.A175V|AMN1_uc010skc.2_Missense_Mutation_p.A175V|AMN1_uc009zjs.3_Non-coding_Transcript|AMN1_uc009zjt.1_Non-coding_Transcript	NM_001113402	NP_001106873	Q8IY45	AMN1_HUMAN	Homo sapiens antagonist of mitotic exit network 1 homolog (S. cerevisiae) (AMN1), transcript variant 1, mRNA.	193										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)|urinary_tract(1)	7	all_cancers(9;7.41e-12)|all_epithelial(9;1.18e-11)|all_lung(12;1.14e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.162)		OV - Ovarian serous cystadenocarcinoma(6;0.0014)			TAATTTCTTCGCACAAGGTCC	0.338													A	31850308	G	A	31850308	3	1	147	1	0	0	0	0	1	0	0	0	581	1087	38	1	210	1	AMN1	12	31850308	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		31850308	102001587	16	9877											
MARCH9	92979	broad.mit.edu	37	chr12	58152585	58152585	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctcagcgctgcggttatAcaatcttgcacctccttggg	6	12	10	13	2	2	0	1	0	1	0	3	0	3	0	3	2	5	3	3	2	3	4			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr12:58152585A>G	uc001spx.2	+	3	1377	c.946A>G	c.(946-948)Aca>Gca	p.T316A	MARCH9_uc001spy.3_Missense_Mutation_p.T203A	NM_138396	NP_612405	Q86YJ5	MARH9_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 9 (MARCH9), mRNA.	316						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGCGGTTATACAATCTTGCA	0.652													G	58152585	A	G	58152585	3	3	147	1	0	0	0	0	1	0	0	0	9383	391	14	3	960	3	MARCH9	12	58152585	Missense_Mutation	SNP	A	TCGA-15-1444-01A-02D-1696-08	26302277	58152585	75699310	17	9878											
PMFBP1	83449	broad.mit.edu	37	chr16	72184633	72184633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcctctctagagaggcgatCttgtccccggccaaggcgag	7	8	12	14	3	2	1	0	0	2	1	5	4	4	1	4	3	0	0	4	3	2	2			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr16:72184633C>T	uc002fcc.4	-	4	682	c.510G>A	c.(508-510)aaG>aaA	p.K170K	PMFBP1_uc002fcd.3_Silent_p.K170K|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.K25K	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	170										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GAGAGGCGATCTTGTCCCCGG	0.498													T	72184633	C	T	72184633	2	4	147	1	0	0	0	0	0	0	0	1	12211	912	32	2		2	PMFBP1	16	72184633	Silent	SNP	C	TCGA-15-1444-01A-02D-1696-08		72184633	18170120	18	9879											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	147	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		7577539	73617671	19	9880											
BRIP1	83990	broad.mit.edu	37	chr17	59876469	59876469	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaatcttcttacttaatgagGctacagcacacagctcgtag	13	11	7	10	1	2	1	0	1	2	0	3	1	2	1	0	1	4	4	0	1	5	5			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr17:59876469G>A	uc002izk.2	-	8	1638	c.1332C>T	c.(1330-1332)agC>agT	p.S444S		NM_032043	NP_114432	Q9BX63	FANCJ_HUMAN	Homo sapiens BRCA1 interacting protein C-terminal helicase 1 (BRIP1), mRNA.	444					DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						ACTTAATGAGGCTACAGCACA	0.358			"F, N, Mis"			"AML, leukemia, breast"		Involved in tolerance or repair of DNA crosslinks					A	59876469	G	A	59876469	2	1	147	1	0	0	0	0	0	0	0	1	1523	1194	42	2		2	BRIP1	17	59876469	Silent	SNP	G	TCGA-15-1444-01A-02D-1696-08	52298930	59876469	21318741	20	9881											
COLEC12	81035	broad.mit.edu	37	chr18	334801	334801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggggcaccaccgctcctGatgggccaggagggccgggg	6	3	18	14	2	0	1	0	1	0	0	1	2	1	2	6	7	0	2	6	7	0	0			TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chr18:334801G>A	uc002kkm.3	-	5	1972	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	586	Collagen-like 3.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CACCGCTCCTGATGGGCCAGG	0.701													A	334801	G	A	334801	3	1	147	1	0	0	0	0	1	0	0	0	3743	1294	45	2	491	2	COLEC12	18	334801	Missense_Mutation	SNP	G	TCGA-15-1444-01A-02D-1696-08		334801	77742447	21	9882											
ATRX	546	broad.mit.edu	37	chrX	76814207	76814208	+	Frame_Shift_Del	DEL	TG	TG	-																															gataaactctgaatatactcTggatgtcataagatggattc																										TCGA-15-1444-01A-02D-1696-08	TCGA-15-1444-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd4d4e7-f1c4-446c-8dbc-ce06c872ec14	41190f35-e3af-46e3-9b2d-41bc41d5891b	g.chrX:76814207_76814208delTG	uc004ecp.4	-	28	6668_6669	c.6436_6437delCA	c.(6436-6438)cagfs	p.Q2146fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.Q2108fs|ATRX_uc004eco.4_Frame_Shift_Del_p.Q1931fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	2146	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)	GAATATACTCTGGATGTCATAA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814208	TG	-	76814207	7	5	147	1	0	1	0	1	0	0	0	0	1213	1580	55	0	1069	0	ATRX	23	76814207	Frame_Shift_Del	DEL	TG	TCGA-15-1444-01A-02D-1696-08		76814207	78456353	22	9883											
SERINC2	347735	broad.mit.edu	37	chr1	31905860	31905860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacagcctgatgcagaccGaggagtgcccacctatgcta	11	7	11	12	1	0	3	0	2	0	1	0	5	0	4	4	1	5	2	4	1	3	2	rs139208281	byFrequency	TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:31905860G>A	uc021okm.1	+	9	1360	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K	SERINC2_uc010ogg.2_Missense_Mutation_p.E358K|SERINC2_uc001bst.3_Missense_Mutation_p.E354K|SERINC2_uc001bsu.3_Missense_Mutation_p.E299K|SERINC2_uc010ogh.2_Missense_Mutation_p.E358K	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	354						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GATGCAGACCGAGGAGTGCCC	0.617													A	31905860	G	A	31905860	3	1	148	1	0	0	0	0	1	0	0	0	14173	1059	37	1	1094	1	SERINC2	1	31905860	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		31905860	217344761	1	9884											
ZC3H12A	80149	broad.mit.edu	37	chr1	37948876	37948876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagccttctctgcctttggCcgggccatgggtgctggcca	3	10	14	14	1	1	0	0	0	1	0	2	0	1	0	5	4	3	2	5	4	0	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:37948876C>T	uc001cbb.4	+	5	1614	c.1464C>T	c.(1462-1464)ggC>ggT	p.G488G	ZC3H12A_uc001cbc.1_Silent_p.G283G	NM_025079	NP_079355	Q5D1E8	ZC12A_HUMAN	Homo sapiens zinc finger CCCH-type containing 12A (ZC3H12A), mRNA.	488	Pro-rich.				angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCTTTGGCCGGGCCATGG	0.662													T	37948876	C	T	37948876	2	4	148	1	0	0	0	0	0	0	0	1	17662	726	26	2		2	ZC3H12A	1	37948876	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	6043016	37948876	211301745	2	9885											
MFSD2A	84879	broad.mit.edu	37	chr1	40432533	40432533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctacttccggggcctaCggctggtcatgagccacggc	5	8	13	15	4	1	1	1	1	0	0	3	1	2	1	4	5	3	1	4	5	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:40432533C>T	uc001cev.3	+	7	1076	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	MFSD2A_uc010ojb.1_Missense_Mutation_p.R247W|MFSD2A_uc001ceu.3_Missense_Mutation_p.R286W|MFSD2A_uc010ojc.2_Missense_Mutation_p.R130W|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	299					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGGGGCCTACGGCTGGTCAT	0.572													T	40432533	C	T	40432533	3	4	148	1	0	0	0	0	1	0	0	0	9605	527	19	1	925	1	MFSD2A	1	40432533	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	2483657	40432533	208818088	3	9886											
FAM151A	338094	broad.mit.edu	37	chr1	55078368	55078368	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccttgggatacttctcctgGaccagggccaggaacctgca	8	8	12	13	0	1	0	0	0	1	0	2	3	1	3	5	4	3	1	5	4	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:55078368G>T	uc001cxn.3	-	4	723	c.591C>A	c.(589-591)gtC>gtA	p.V197V	ACOT11_uc001cxm.2_Intron	NM_176782	NP_788954	Q8WW52	F151A_HUMAN	Homo sapiens family with sequence similarity 151, member A (FAM151A), mRNA.	197						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						ACTTCTCCTGGACCAGGGCCA	0.562													T	55078368	G	T	55078368	2	4	148	1	0	0	0	0	0	0	0	1	5503	1161	41	4		4	FAM151A	1	55078368	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	14645835	55078368	194172253	4	9887											
TM2D1	83941	broad.mit.edu	37	chr1	62190705	62190705	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagccccccagggtcctgTagtgactgagacgaaccaca	12	5	10	14	1	0	2	0	2	0	1	1	4	1	2	5	1	3	1	5	1	3	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:62190705T>A	uc001czz.1	-	0	391	c.88A>T	c.(88-90)Aca>Tca	p.T30S		NM_032027	NP_114416	Q9BX74	TM2D1_HUMAN	Homo sapiens TM2 domain containing 1 (TM2D1), mRNA.	30					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAGGGTCCTGTAGTGACTGAG	0.647													A	62190705	T	A	62190705	3	1	148	1	0	0	0	0	1	0	0	0	16063	1638	57	5	559	5	TM2D1	1	62190705	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	7112337	62190705	187059916	5	9888											
HRNR	388697	broad.mit.edu	37	chr1	152193139	152193139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagacccgtgttggccGtggctggaggagtgccccga	6	6	17	12	3	0	1	0	0	0	1	0	5	0	3	5	4	2	2	5	4	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:152193139G>A	uc001ezt.1	-	2	1042	c.966C>T	c.(964-966)caC>caT	p.H322H		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	322					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTGTTGGCCGTGGCTGGAGG	0.607													A	152193139	G	A	152193139	2	1	148	1	0	0	0	0	0	0	0	1	7414	1136	40	1		1	HRNR	1	152193139	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	90002434	152193139	97057482	6	9889											
GON4L	55249	broad.mit.edu	37	chr1	155629971	155629971	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggccacagccgcattgAcaggctggatcatgttacag	9	9	12	11	1	2	1	1	1	1	0	2	2	2	2	2	3	2	3	2	3	1	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:155629971A>T	uc010pgi.2	-	9	2336	c.2144T>A	c.(2143-2145)gTc>gAc	p.V715D	GON4L_uc021paz.1_Missense_Mutation_p.V557D|GON4L_uc010pgg.2_Missense_Mutation_p.V462D|GON4L_uc010pgh.2_Missense_Mutation_p.V566D|GON4L_uc009wqt.3_Missense_Mutation_p.V546D|GON4L_uc001flh.3_Missense_Mutation_p.V695D|GON4L_uc001fll.3_Missense_Mutation_p.V577D|GON4L_uc001flk.3_Missense_Mutation_p.V566D|GON4L_uc001flm.3_Missense_Mutation_p.V566D|GON4L_uc009wqu.3_Missense_Mutation_p.V410D|GON4L_uc009wqv.3_Missense_Mutation_p.V294D|GON4L_uc009wqw.3_Missense_Mutation_p.V546D|GON4L_uc001flj.3_Missense_Mutation_p.V557D|GON4L_uc001fli.3_Missense_Mutation_p.V577D|GON4L_uc001flo.3_Missense_Mutation_p.V511D|GON4L_uc001fln.3_Missense_Mutation_p.V623D|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.V577D	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1167					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCCGCATTGACAGGCTGGAT	0.557													T	155629971	A	T	155629971	3	4	148	1	0	0	0	0	1	0	0	0	6625	275	10	5		5	GON4L	1	155629971	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	3436832	155629971	93620650	7	9890											
OLFML2B	25903	broad.mit.edu	37	chr1	161987297	161987297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtctatgattgtggagaGctatgaaacaaggcaagggg	13	9	14	5	0	1	3	0	2	1	1	1	4	1	3	0	4	2	2	0	4	5	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:161987297G>A	uc010pkq.2	-	3	863	c.439_splice	c.e3-1	p.L147_splice	OLFML2B_uc001gbu.3_Splice_Site_p.L147_splice	NM_015441	NP_056256	Q68BL8	OLM2B_HUMAN	Homo sapiens olfactomedin-like 2B (OLFML2B), mRNA.	147										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			ATTGTGGAGAGCTATGAAACA	0.522													A	161987297	G	A	161987297	3	1	148	1	0	0	0	0	1	0	0	0	10934	985	34	2	1837	2	OLFML2B	1	161987297	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	6357326	161987297	87263324	8	9891											
LGR6	59352	broad.mit.edu	37	chr1	202249926	202249926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcatttgcataacaaccGcatccagcatctggggaccc	11	7	9	14	1	1	0	0	0	1	0	2	1	2	1	3	3	4	4	3	3	2	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:202249926G>A	uc001gxu.3	+	5	662	c.662G>A	c.(661-663)cGc>cAc	p.R221H	LGR6_uc001gxv.3_Missense_Mutation_p.R169H|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Intron|LGR6_uc009xac.1_Non-coding_Transcript	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	221						integral to membrane|plasma membrane	protein-hormone receptor activity	p.R221H(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CATAACAACCGCATCCAGCAT	0.567													A	202249926	G	A	202249926	3	1	148	1	0	0	0	0	1	0	0	0	8818	1087	38	1	831	1	LGR6	1	202249926	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	40262629	202249926	47000695	9	9892											
LAMB3	3914	broad.mit.edu	37	chr1	209797264	209797264	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccattgaagcttctGtcaagactctccaggtctct	10	11	9	11	0	4	3	1	1	3	2	6	4	4	3	2	2	1	1	2	2	2	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr1:209797264G>A	uc001hhg.3	-	13	2448	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	LAMB3_uc009xco.3_Silent_p.D686D|LAMB3_uc001hhh.3_Silent_p.D686D|LAMB3_uc010psl.1_Non-coding_Transcript|MIR4260_uc021pil.1_5'Flank	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	686	Domain II.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		TGAAGCTTCTGTCAAGACTCT	0.547													A	209797264	G	A	209797264	2	1	148	1	0	0	0	0	0	0	0	1	8671	1368	48	2		2	LAMB3	1	209797264	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	7547338	209797264	39453357	10	9893											
BCL11A	53335	broad.mit.edu	37	chr2	60688453	60688453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcccacgcccacgaccgCgccccgcgagctgttctcgt	4	6	11	20	8	1	0	0	0	1	0	3	2	1	0	5	0	1	2	5	0	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:60688453C>T	uc002sae.1	-	3	1822	c.1594G>A	c.(1594-1596)Gcg>Acg	p.A532T	BCL11A_uc002sab.3_Missense_Mutation_p.A532T|BCL11A_uc002sac.3_Intron|BCL11A_uc010ypi.2_Missense_Mutation_p.A201T|BCL11A_uc010ypj.2_Missense_Mutation_p.A498T|BCL11A_uc002sad.1_Missense_Mutation_p.A380T|BCL11A_uc002saf.1_Missense_Mutation_p.A498T	NM_022893	NP_075044	Q9H165	BC11A_HUMAN	Homo sapiens B-cell CLL/lymphoma 11A (zinc finger protein) (BCL11A), transcript variant 1, mRNA.	532					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CCCACGACCGCGCCCCGCGAG	0.697			T	IGH@	B-CLL								T	60688453	C	T	60688453	3	4	148	1	0	0	0	0	1	0	0	0	1368	768	27	1	1023	1	BCL11A	2	60688453	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		60688453	182510920	11	9894											
MYO7B	4648	broad.mit.edu	37	chr2	128370138	128370138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaacctggagaaggtgCacttcatcgtgggctacgcc	8	9	12	12	2	1	1	1	0	0	1	3	2	2	1	3	3	3	2	3	3	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:128370138C>T	uc002top.3	+	24	3333	c.3280C>T	c.(3280-3282)Cac>Tac	p.H1094Y		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1094	MyTH4 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAAGGTGCACTTCATCGT	0.602													T	128370138	C	T	128370138	3	4	148	1	0	0	0	0	1	0	0	0	10159	710	25	2	3374	2	MYO7B	2	128370138	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	67681685	128370138	114829235	12	9895											
SCN9A	6335	broad.mit.edu	37	chr2	167056246	167056246	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagggacatcatcaaagcaaAgagcagcgtgcggatcccct	14	5	11	11	2	2	1	2	0	0	1	3	3	3	3	2	2	4	2	2	2	3	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:167056246A>T	uc010fpl.3	-	26	5211	c.4870T>A	c.(4870-4872)Ttt>Att	p.F1624I	BC051759_uc002udp.3_Non-coding_Transcript	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1635						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.F1624V(2)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	ATCAAAGCAAAGAGCAGCGTG	0.507													T	167056246	A	T	167056246	3	4	148	1	0	0	0	0	1	0	0	0	14018	72	3	5	1067	5	SCN9A	2	167056246	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	38686108	167056246	76143127	13	9896											
HOXD4	3233	broad.mit.edu	37	chr2	177017342	177017342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttgtctcgcagtgaaccCcaactacaccggtggggaac	9	9	11	12	2	1	1	0	1	1	0	2	2	1	2	3	3	4	2	3	3	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:177017342C>T	uc002uks.3	+	1	689	c.440C>T	c.(439-441)cCc>cTc	p.P147L		NM_014621	NP_055436	P09016	HXD4_HUMAN	Homo sapiens homeobox D4 (HOXD4), mRNA.	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GCAGTGAACCCCAACTACACC	0.597													T	177017342	C	T	177017342	3	4	148	1	0	0	0	0	1	0	0	0	7379	623	22	2	446	2	HOXD4	2	177017342	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	9961096	177017342	66182031	14	9897											
COL3A1	1281	broad.mit.edu	37	chr2	189858803	189858803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtcctggtggtaaaggcGaaatggtaagctgtccccac	10	9	13	9	1	0	0	0	0	0	0	2	1	2	0	3	4	1	4	3	4	5	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:189858803G>A	uc002uqj.1	+	16	1306	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	397	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TGGTAAAGGCGAAATGGTAAG	0.373													A	189858803	G	A	189858803	3	1	148	1	0	0	0	0	1	0	0	0	3719	1059	37	1	1255	1	COL3A1	2	189858803	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12841461	189858803	53340570	15	9898											
PRKAG3	53632	broad.mit.edu	37	chr2	219689035	219689035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacatagtgtcctctgcctCagggcttctcccacactcat	8	11	7	15	0	4	1	2	0	2	1	6	1	5	1	3	1	1	1	3	1	1	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr2:219689035C>T	uc002vjb.1	-	11	1282	c.1263G>A	c.(1261-1263)ctG>ctA	p.L421L		NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	421					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTCTGCCTCAGGGCTTCTC	0.597													T	219689035	C	T	219689035	2	4	148	1	0	0	0	0	0	0	0	1	12588	813	29	2		2	PRKAG3	2	219689035	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	29830232	219689035	23510338	16	9899											
GRM7	2917	broad.mit.edu	37	chr3	6903256	6903256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttccccgtgcacgccaagGgtcccagcggagtgccctgc	5	7	13	16	3	0	0	0	0	0	0	2	1	2	1	5	2	4	2	5	2	1	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr3:6903256G>T	uc003bqm.2	+	0	455	c.181G>T	c.(181-183)Ggt>Tgt	p.G61C	GRM7_uc011ata.1_Non-coding_Transcript|GRM7_uc011atb.1_Non-coding_Transcript|GRM7_uc010hcf.2_Non-coding_Transcript|GRM7_uc011atc.1_Non-coding_Transcript|GRM7_uc010hcg.2_Missense_Mutation_p.G61C|GRM7_uc003bql.2_Missense_Mutation_p.G61C	NM_000844	NP_000835	Q14831	GRM7_HUMAN	Homo sapiens glutamate receptor, metabotropic 7 (GRM7), transcript variant 1, mRNA.	61					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GCACGCCAAGGGTCCCAGCGG	0.672													T	6903256	G	T	6903256	3	4	148	1	0	0	0	0	1	0	0	0	6857	1232	43	4	183	4	GRM7	3	6903256	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		6903256	191119174	17	9900											
CD38	952	broad.mit.edu	37	chr4	15835885	15835885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggagaaaggactgcagcaAcaaccctgtttcagtattct	12	10	9	10	0	2	1	1	0	1	1	2	3	2	2	1	2	4	4	1	2	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:15835885A>G	uc003gol.1	+	3	652	c.545A>G	c.(544-546)aAc>aGc	p.N182S	CD38_uc021xmk.1_Non-coding_Transcript	NM_001775	NP_001766	P28907	CD38_HUMAN	Homo sapiens CD38 molecule (CD38), mRNA.	182					B cell receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of apoptosis|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of transcription, DNA-dependent|response to drug	integral to membrane|plasma membrane	binding|NAD+ nucleosidase activity|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|stomach(1)	14						GACTGCAGCAACAACCCTGTT	0.388													G	15835885	A	G	15835885	3	3	148	1	0	0	0	0	1	0	0	0	3039	43	2	3	559	3	CD38	4	15835885	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08		15835885	175318391	18	9901											
GALNT7	51809	broad.mit.edu	37	chr4	174219326	174219326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacacatatgaaattataccCcaagggggtggtgatgaaga	16	8	11	6	0	0	4	0	3	0	1	0	4	0	4	2	3	2	0	2	3	7	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr4:174219326C>T	uc003isz.4	+	5	1109	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	GALNT7_uc011ckb.2_Intron	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	342					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		AAATTATACCCCAAGGGGGTG	0.473													T	174219326	C	T	174219326	2	4	148	1	0	0	0	0	0	0	0	1	6272	610	22	2		2	GALNT7	4	174219326	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	158383441	174219326	16934950	19	9902											
C9	735	broad.mit.edu	37	chr5	39316092	39316092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaaatgcttcaatttgttCttcgtaatgttcggttctga	8	20	7	6	2	3	1	1	1	2	0	5	1	3	1	0	1	1	5	0	1	4	9			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:39316092C>G	uc003jlv.4	-	5	744	c.655G>C	c.(655-657)Gaa>Caa	p.E219Q		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	219	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TCAATTTGTTCTTCGTAATGT	0.303													G	39316092	C	G	39316092	3	3	148	1	0	0	0	0	1	0	0	0	2469	922	32	4	1048	4	C9	5	39316092	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		39316092	141599168	20	9903											
HEATR7B2	133558	broad.mit.edu	37	chr5	41061824	41061824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgctgaatttctcaaGggctgcatttaaaacacaca	12	12	8	9	0	1	1	1	1	1	0	2	1	1	1	0	2	3	4	0	2	4	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:41061824G>T	uc003jmj.4	-	5	953	c.463C>A	c.(463-465)Ctt>Att	p.L155I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.L155I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	155							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						AATTTCTCAAGGGCTGCATTT	0.398													T	41061824	G	T	41061824	3	4	148	1	0	0	0	0	1	0	0	0	7090	1000	35	4	4442	4	HEATR7B2	5	41061824	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1745732	41061824	139853436	21	9904											
POLR3G	10622	broad.mit.edu	37	chr5	89802453	89802453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacgatgacgatgatgccGcagaacaggaggaatatgat	15	7	13	6	3	0	5	0	4	0	1	0	9	0	7	1	2	2	1	1	2	3	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:89802453G>A	uc003kjq.3	+	6	747	c.547G>A	c.(547-549)Gca>Aca	p.A183T	POLR3G_uc011cuc.2_Missense_Mutation_p.A183T	NM_006467	NP_006458	O15318	RPC7_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide G (32kD) (POLR3G), mRNA.	183	Glu-rich.				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA-directed RNA polymerase activity			cervix(1)|endometrium(1)|kidney(2)|lung(4)|prostate(1)	9		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;2.74e-31)|Epithelial(54;8.2e-26)|all cancers(79;3.86e-22)		cgatgatgccgcagaacagga	0.368													A	89802453	G	A	89802453	3	1	148	1	0	0	0	0	1	0	0	0	12311	1087	38	1	569	1	POLR3G	5	89802453	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	48740629	89802453	91112807	22	9905											
C5orf46	389336	broad.mit.edu	37	chr5	147286057	147286057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaggcgaagtactgagAcagccattctggtagcacgg	10	8	13	10	2	2	1	1	1	1	1	2	3	2	1	1	3	3	3	1	3	3	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:147286057A>C	uc010jgp.3	-	0	45	c.8T>G	c.(7-9)gTc>gGc	p.V3G	C5orf46_uc003lou.3_Missense_Mutation_p.V3G|C5orf46_uc003lov.4_Missense_Mutation_p.V3G	NM_206966	NP_996849	Q6UWT4	CE046_HUMAN	Homo sapiens chromosome 5 open reading frame 46 (C5orf46), mRNA.	3						extracellular region				NS(1)|lung(1)|prostate(1)	3						AAGTACTGAGACAGCCATTCT	0.453													C	147286057	A	C	147286057	3	2	148	1	0	0	0	0	1	0	0	0	2327	275	10	5	267	5	C5orf46	5	147286057	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	57483604	147286057	33629203	23	9906											
SH3TC2	79628	broad.mit.edu	37	chr5	148427540	148427540	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcggctctttacacagaagGagagtgtcaggtcttaaaga	13	9	12	7	1	3	3	1	0	2	3	3	4	3	3	0	3	2	1	0	3	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr5:148427540G>C	uc003lpu.3	-	2	316	c.164C>G	c.(163-165)tCc>tGc	p.S55C	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.S55C|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_5'UTR|SH3TC2_uc003lpw.1_Missense_Mutation_p.S55C	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	55							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACACAGAAGGAGAGTGTCAG	0.498													C	148427540	G	C	148427540	3	2	148	1	0	0	0	0	1	0	0	0	14356	1174	41	4	3762	4	SH3TC2	5	148427540	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1141483	148427540	32487720	24	9907											
KIAA0319	9856	broad.mit.edu	37	chr6	24563628	24563628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctggaccttaatgtcCgagtccagcacgttcagcag	9	11	9	12	2	3	0	1	0	2	0	5	2	5	1	3	1	2	3	3	1	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:24563628C>T	uc011djo.2	-	15	3050	c.2550G>A	c.(2548-2550)tcG>tcA	p.S850S	KIAA0319_uc011djp.2_Silent_p.S805S|KIAA0319_uc003neh.1_Silent_p.S850S|KIAA0319_uc011djq.1_Silent_p.S841S|KIAA0319_uc011djr.1_Silent_p.S850S|KIAA0319_uc010jpt.1_Silent_p.S261S	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	850					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CCTTAATGTCCGAGTCCAGCA	0.587													T	24563628	C	T	24563628	2	4	148	1	0	0	0	0	0	0	0	1	8226	639	23	1		1	KIAA0319	6	24563628	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08		24563628	146551439	25	9908											
PHACTR2	9749	broad.mit.edu	37	chr6	144033221	144033221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggttcccaaacacctcccTtcaaaagaaaggggaaacta	16	6	7	12	0	1	1	1	0	0	1	3	2	3	2	3	3	2	1	3	3	6	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr6:144033221T>C	uc010khi.3	+	1	314	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	PHACTR2_uc003qjq.4_Missense_Mutation_p.F28L|PHACTR2_uc010khh.3_Missense_Mutation_p.F28L|PHACTR2_uc003qjr.4_Missense_Mutation_p.F39L	NM_001100164	NP_001093634	O75167	PHAR2_HUMAN	Homo sapiens phosphatase and actin regulator 2 (PHACTR2), transcript variant 1, mRNA.	28							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		AACACCTCCCTTCAAAAGAAA	0.433													C	144033221	T	C	144033221	3	2	148	1	0	0	0	0	1	0	0	0	11887	1609	56	3	138	3	PHACTR2	6	144033221	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	119469593	144033221	27081846	26	9909											
SDK1	221935	broad.mit.edu	37	chr7	4213951	4213951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcactgaggccaagaCgctcaaaaaccctatagctt	13	7	9	12	1	2	2	2	1	0	1	2	2	2	2	2	2	2	3	2	2	5	3	rs140602039		TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:4213951C>T	uc003smx.3	+	32	5037	c.4898C>T	c.(4897-4899)aCg>aTg	p.T1633M	SDK1_uc010kso.3_Missense_Mutation_p.T909M|SDK1_uc003smy.3_Missense_Mutation_p.T120M	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1633	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GAGGCCAAGACGCTCAAAAAC	0.562													T	4213951	C	T	4213951	3	4	148	1	0	0	0	0	1	0	0	0	14061	536	19	1	5028	1	SDK1	7	4213951	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		4213951	154924712	27	9910											
CPVL	54504	broad.mit.edu	37	chr7	29160576	29160576	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgagtctcccttaggTggcatggaaacacttctgta	8	13	10	10	0	2	1	0	1	2	0	4	2	3	2	2	3	1	2	2	3	3	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:29160576T>C	uc003szv.3	-	1	221	c.102A>G	c.(100-102)ccA>ccG	p.P34P	CPVL_uc003szw.3_Silent_p.P34P|CPVL_uc003szx.3_Silent_p.P34P	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	34					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						CTCCCTTAGGTGGCATGGAAA	0.468													C	29160576	T	C	29160576	2	2	148	1	0	0	0	0	0	0	0	1	3866	1683	59	3		3	CPVL	7	29160576	Silent	SNP	T	TCGA-16-0846-01A-01W-0424-08	24946625	29160576	129978087	28	9911											
AEBP1	165	broad.mit.edu	37	chr7	44148536	44148536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctccgccccagaagcccGatgctgagcgccagacagac	9	4	10	18	3	0	4	0	1	0	3	2	5	2	4	6	0	3	1	6	0	1	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:44148536G>A	uc003tkb.3	+	6	1284	c.979G>A	c.(979-981)Gat>Aat	p.D327N	AEBP1_uc003tkc.4_5'Flank|AEBP1_uc022aci.1_5'Flank|AEBP1_uc003tkd.3_5'Flank	NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	327					cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CCAGAAGCCCGATGCTGAGCG	0.652													A	44148536	G	A	44148536	3	1	148	1	0	0	0	0	1	0	0	0	349	1058	37	1	1005	1	AEBP1	7	44148536	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	14987960	44148536	114990127	29	9912											
ZNF680	340252	broad.mit.edu	37	chr7	64004099	64004099	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctacctgggggtttggctAccatctcctgtctcttccta	5	14	8	14	0	2	0	0	0	2	0	5	0	3	0	5	3	2	2	5	3	3	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:64004099A>G	uc003tta.2	-	2	412	c.239T>C	c.(238-240)gTa>gCa	p.V80A	ZNF680_uc003ttb.2_Missense_Mutation_p.V80A	NM_178558	NP_848653	Q8NEM1	ZN680_HUMAN	Homo sapiens zinc finger protein 680 (ZNF680), transcript variant 1, mRNA.	80	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	27		Lung NSC(55;0.118)|all_lung(88;0.243)				GGGTTTGGCTACCATCTCCTG	0.428													G	64004099	A	G	64004099	3	3	148	1	0	0	0	0	1	0	0	0	18188	391	14	3	1484	3	ZNF680	7	64004099	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	19855563	64004099	95134564	30	9913											
ZAN	7455	broad.mit.edu	37	chr7	100377161	100377161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgacctccgcagggcGcgggaaaagtgcgaggcagc	8	2	18	13	6	0	0	0	0	0	0	1	3	1	1	3	4	2	2	3	4	2	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100377161G>A	uc003uwj.3	+	35	6573	c.6408G>A	c.(6406-6408)gcG>gcA	p.A2136A	ZAN_uc003uwk.3_Silent_p.A2136A|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kke.2_Silent_p.A224A	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	2137	VWFD 3.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TCCGCAGGGCGCGGGAAAAGT	0.637													A	100377161	G	A	100377161	2	1	148	1	0	0	0	0	0	0	0	1	17615	1074	38	1		1	ZAN	7	100377161	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	36373062	100377161	58761502	31	9914											
MUC17	140453	broad.mit.edu	37	chr7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacatctacaaatgtcGtggagccaagaatgtatttg	14	11	9	7	1	1	1	0	0	1	1	2	2	1	2	1	1	4	2	1	1	7	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:100674926G>A	uc003uxp.1	+	2	282	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	77						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)					TACAAATGTCGTGGAGCCAAG	0.448													A	100674926	G	A	100674926	3	1	148	1	0	0	0	0	1	0	0	0	10050	1145	40	1	239	1	MUC17	7	100674926	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	297765	100674926	58463737	32	9915											
RELN	5649	broad.mit.edu	37	chr7	103124180	103124180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacatgccaggtgatcccGttgttgacgctgtattgcag	8	12	12	9	2	0	3	0	3	0	0	1	3	1	3	2	1	2	5	2	1	1	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:103124180G>A	uc022ajr.1	-	61	10261	c.10101C>T	c.(10099-10101)aaC>aaT	p.N3367N	RELN_uc022ajq.1_Silent_p.N3367N|RELN_uc010liz.3_Silent_p.N3367N	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	3367					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AGGTGATCCCGTTGTTGACGC	0.552													A	103124180	G	A	103124180	2	1	148	1	0	0	0	0	0	0	0	1	13308	1136	40	1		1	RELN	7	103124180	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	2449254	103124180	56014483	33	9916											
PUS7	54517	broad.mit.edu	37	chr7	105111170	105111170	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactatattcttcattccatAttttgaaagtcctcgaagca	12	15	5	9	1	2	1	1	1	1	0	5	3	4	1	2	0	1	1	2	0	5	8			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:105111170A>C	uc010lji.3	-	10	1389	c.1381T>G	c.(1381-1383)Tat>Gat	p.Y461D	PUS7_uc003vcx.3_Missense_Mutation_p.Y455D|PUS7_uc003vcy.3_Missense_Mutation_p.Y455D|PUS7_uc003vcz.1_Missense_Mutation_p.Y455D	NM_019042	NP_061915	Q96PZ0	PUS7_HUMAN	Homo sapiens pseudouridylate synthase 7 homolog (S. cerevisiae) (PUS7), mRNA.	455	TRUD.				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTCATTCCATATTTTGAAAGT	0.423													C	105111170	A	C	105111170	3	2	148	1	0	0	0	0	1	0	0	0	12921	449	16	5	646	5	PUS7	7	105111170	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	1986990	105111170	54027493	34	9917											
GIMAP7	168537	broad.mit.edu	37	chr7	150217096	150217096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaccgctccctgaggatcGttctggtagggaaaactgga	10	8	14	9	2	1	1	0	1	1	0	3	5	2	5	2	5	1	3	2	5	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr7:150217096G>A	uc003whk.3	+	1	164	c.34G>A	c.(34-36)Gtt>Att	p.V12I	GIMAP7_uc022apu.1_Missense_Mutation_p.V12I	NM_153236	NP_694968	Q8NHV1	GIMA7_HUMAN	Homo sapiens GTPase, IMAP family member 7 (GIMAP7), mRNA.	12							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGAGGATCGTTCTGGTAGG	0.498													A	150217096	G	A	150217096	3	1	148	1	0	0	0	0	1	0	0	0	6440	1145	40	1	36	1	GIMAP7	7	150217096	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	45105926	150217096	8921567	35	9918											
INTS9	55756	broad.mit.edu	37	chr8	28627526	28627526	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcttcccgctcgtgggctgGgcgggccgaggagggggcta	3	8	19	11	4	1	0	0	0	1	0	3	2	2	1	2	6	0	3	2	6	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:28627526G>T	uc003xha.3	-	15	1979	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	INTS9_uc011lav.2_Silent_p.A536A|INTS9_uc011law.2_Silent_p.A539A|INTS9_uc011lax.2_Silent_p.A453A|INTS9_uc010lvc.3_Non-coding_Transcript	NM_018250	NP_001166033	Q9NV88	INT9_HUMAN	Homo sapiens integrator complex subunit 9 (INTS9), transcript variant 1, mRNA.	560					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		TCGTGGGCTGGGCGGGCCGAG	0.602											OREG0018682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28627526	G	T	28627526	2	4	148	1	0	0	0	0	0	0	0	1	7843	1219	43	4		4	INTS9	8	28627526	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		28627526	117736496	36	9919											
PRKDC	5591	broad.mit.edu	37	chr8	48772255	48772255	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccggttgagaaatcaaattGactcatttcctcactcaggg	11	12	8	10	1	4	2	4	2	0	1	6	3	6	2	2	2	0	1	2	2	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:48772255G>A	uc003xqi.3	-	46	6178	c.6121C>T	c.(6121-6123)Caa>Taa	p.Q2041*	PRKDC_uc003xqj.3_Nonsense_Mutation_p.Q2041*	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	2042					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.M2040I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAATCAAATTGACTCATTTCC	0.423								Non-homologous end-joining					A	48772255	G	A	48772255	4	1	148	1	0	0	0	0	0	1	0	0	12607	1299	45	2	6426	2	PRKDC	8	48772255	Nonsense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	20144729	48772255	97591767	37	9920											
RP1	6101	broad.mit.edu	37	chr8	55540932	55540932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaattaatccaagaagAggtagaggctagtaaaactt	18	9	10	4	0	0	5	0	1	0	4	1	5	1	5	1	2	1	3	1	2	9	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:55540932A>T	uc003xsd.1	+	3	4638	c.4490A>T	c.(4489-4491)gAg>gTg	p.E1497V	RP1_uc011ldy.1_Intron	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	1497					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.E1497E(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ATCCAAGAAGAGGTAGAGGCT	0.313													T	55540932	A	T	55540932	3	4	148	1	0	0	0	0	1	0	0	0	13623	304	11	5	4500	5	RP1	8	55540932	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	6768677	55540932	90823090	38	9921											
TRPA1	8989	broad.mit.edu	37	chr8	72973980	72973980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtggcagcaaaatgaatgGctgtgcaccttcccttctgt	8	11	12	10	0	1	1	0	1	1	0	2	1	2	1	2	3	2	4	2	3	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:72973980G>A	uc003xza.3	-	6	999	c.824C>T	c.(823-825)gCc>gTc	p.A275V		NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	275						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AAAATGAATGGCTGTGCACCT	0.393													A	72973980	G	A	72973980	3	1	148	1	0	0	0	0	1	0	0	0	16678	1203	42	2	2619	2	TRPA1	8	72973980	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	17433048	72973980	73390042	39	9922											
MAPK15	225689	broad.mit.edu	37	chr8	144801307	144801307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggtaccgagcaccggagGtgctgctctcttcgcaccgg	5	8	14	14	4	1	0	0	0	1	0	3	2	1	1	3	4	4	6	3	4	1	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr8:144801307G>T	uc003yzj.3	+	5	603	c.562G>T	c.(562-564)Gtg>Ttg	p.V188L		NM_139021	NP_620590	Q8TD08	MK15_HUMAN	Homo sapiens mitogen-activated protein kinase 15 (MAPK15), mRNA.	188	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCACCGGAGGTGCTGCTCTC	0.687													T	144801307	G	T	144801307	3	4	148	1	0	0	0	0	1	0	0	0	9352	1261	44	4	584	4	MAPK15	8	144801307	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	71827327	144801307	1562715	40	9923											
NCBP1	4686	broad.mit.edu	37	chr9	100433448	100433448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaccctcatatcttggcCgtgttccagcagttctgtgc	6	14	9	12	1	3	1	1	0	2	1	4	1	4	1	3	1	2	3	3	1	2	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr9:100433448C>T	uc004axq.3	+	22	2799	c.2340C>T	c.(2338-2340)gcC>gcT	p.A780A		NM_002486	NP_002477	Q09161	NCBP1_HUMAN	Homo sapiens nuclear cap binding protein subunit 1, 80kDa (NCBP1), mRNA.	780					gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding	p.A780A(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				ATATCTTGGCCGTGTTCCAGC	0.423													T	100433448	C	T	100433448	2	4	148	1	0	0	0	0	0	0	0	1	10287	639	23	1		1	NCBP1	9	100433448	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08		100433448	40779983	41	9924											
VDAC2	7417	broad.mit.edu	37	chr10	76970926	76970926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcctcgccatggcgaccCacggacagacttgcgcgcgt	6	5	14	16	7	0	1	0	0	0	1	1	3	0	2	3	3	1	0	3	3	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:76970926C>T	uc001jxa.3	+	1					VDAC2_uc021ptp.1_Missense_Mutation_p.H4Y|VDAC2_uc010qld.2_5'UTR|VDAC2_uc001jwz.3_Missense_Mutation_p.H4Y|VDAC2_uc010qle.2_5'UTR	NM_001184783	NP_001171712	P45880	VDAC2_HUMAN	Homo sapiens voltage-dependent anion channel 2 (VDAC2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.							mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	CATGGCGACCCACGGACAGAC	0.627													T	76970926	C	T	76970926	3	4	148	1	0	0	0	0	1	0	0	0	17249	594	21	2	12	2	VDAC2	10	76970926	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		76970926	58563821	42	9925											
PTEN	5728	broad.mit.edu	37	chr10	89690846	89690846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaaatttaattgcagaGgtaggtatgaatgtactgta	13	12	10	6	1	0	2	0	1	0	1	0	2	0	2	2	2	2	5	2	2	7	7			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:89690846G>T	uc001kfb.3	+	4	1285	c.253_splice	c.e4+1	p.V85_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	85	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.C71fs*6(2)|p.L70fs*7(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAATTGCAGAGGTAGGTATGA	0.318		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89690846	G	T	89690846	3	4	148	1	0	0	0	0	1	0	0	0	12823	1014	35	4	267	4	PTEN	10	89690846	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12719920	89690846	45843901	43	9926											
SEC23IP	11196	broad.mit.edu	37	chr10	121668628	121668628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagtggagagacaattgttAtgcacaatccaaaggtaatg	16	9	10	6	0	0	1	0	0	0	1	1	3	1	2	1	2	1	3	1	2	6	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr10:121668628A>G	uc001leu.2	+	4	1387	c.1177A>G	c.(1177-1179)Atg>Gtg	p.M393V	SEC23IP_uc010qtc.2_Missense_Mutation_p.M182V	NM_007190	NP_009121	Q9Y6Y8	S23IP_HUMAN	Homo sapiens SEC23 interacting protein (SEC23IP), transcript variant 1, mRNA.	393					Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GACAATTGTTATGCACAATCC	0.303													G	121668628	A	G	121668628	3	3	148	1	0	0	0	0	1	0	0	0	14086	449	16	3	1195	3	SEC23IP	10	121668628	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	31977782	121668628	13866119	44	9927											
TH	7054	broad.mit.edu	37	chr11	2186970	2186970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgttctgcttacacagcccGaactccaccgtgaaccagta	10	8	7	16	3	1	1	0	1	1	0	2	2	2	1	5	0	5	3	5	0	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:2186970G>A	uc001lvq.3	-	11	1240	c.1221C>T	c.(1219-1221)ttC>ttT	p.F407F	TH_uc001lvp.3_Silent_p.F403F|TH_uc001lvr.3_Silent_p.F376F|TH_uc010qxj.2_Silent_p.F380F|TH_uc001lvs.3_Silent_p.F282F|TH_uc001lvt.3_Silent_p.F286F|TH_uc009ydh.1_Non-coding_Transcript	NM_199292	NP_954986	P07101	TY3H_HUMAN	Homo sapiens tyrosine hydroxylase (TH), transcript variant 1, mRNA.	407					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	TACACAGCCCGAACTCCACCG	0.667													A	2186970	G	A	2186970	2	1	148	1	0	0	0	0	0	0	0	1	15938	1049	37	1		1	TH	11	2186970	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		2186970	132819546	45	9928											
OR51A4	401666	broad.mit.edu	37	chr11	4967921	4967921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactctgacagttgtcaggAttgaggtgtatctcagaggg	10	11	13	7	0	3	3	2	2	2	1	4	4	3	4	0	3	1	2	0	3	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:4967921A>G	uc010qys.2	-	0	410	c.410T>C	c.(409-411)aTc>aCc	p.I137T		NM_001005329	NP_001005329	Q8NGJ6	O51A4_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 4 (OR51A4), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGTTGTCAGGATTGAGGTGTA	0.428													G	4967921	A	G	4967921	3	3	148	1	0	0	0	0	1	0	0	0	11163	333	12	3	533	3	OR51A4	11	4967921	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	2780951	4967921	130038595	46	9929											
NAV2	89797	broad.mit.edu	37	chr11	19961278	19961278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcgtggagcccagccActtcaccaagactggacagc	10	6	12	13	1	1	2	1	1	0	1	1	4	1	4	3	2	4	0	3	2	1	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr11:19961278A>G	uc010rdm.2	+	8	2535	c.2174A>G	c.(2173-2175)cAc>cGc	p.H725R	NAV2_uc001mpp.3_Missense_Mutation_p.H638R|NAV2_uc001mpr.4_Missense_Mutation_p.H702R|NAV2_uc021qew.1_Missense_Mutation_p.H702R	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	725						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAGCCCAGCCACTTCACCAAG	0.532													G	19961278	A	G	19961278	3	3	148	1	0	0	0	0	1	0	0	0	10260	159	6	3	2214	3	NAV2	11	19961278	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08	14993357	19961278	115045238	47	9930											
BIN2	51411	broad.mit.edu	37	chr12	51696870	51696870	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccatgctgcattgcccaCctttgactgcactaaggaag	9	10	8	14	0	0	1	0	1	0	0	1	2	1	2	3	1	4	3	3	1	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:51696870C>T	uc001ryg.3	-	3	269	c.217_splice	c.e3+1	p.V73_splice	BIN2_uc009zlz.3_Splice_Site_p.V73_splice|BIN2_uc001ryh.3_Splice_Site|BIN2_uc010sng.2_Splice_Site_p.V47_splice	NM_016293	NP_057377	Q9UBW5	BIN2_HUMAN	Homo sapiens bridging integrator 2 (BIN2), mRNA.	73	BAR.					cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GCATTGCCCACCTTTGACTGC	0.433													T	51696870	C	T	51696870	5	4	148	1	0	0	0	0	0	0	1	0	1439	521	18	2	1523	2	BIN2	12	51696870	Splice_Site	SNP	C	TCGA-16-0846-01A-01W-0424-08		51696870	82155025	48	9931											
OR6C75	390323	broad.mit.edu	37	chr12	55759400	55759400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcagttggatttctgtgcctCcaatgtaattgatcatttta	9	17	8	7	0	2	1	1	1	1	0	3	2	3	2	2	1	1	3	2	1	3	6			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:55759400C>G	uc010spk.2	+	0	506	c.506C>G	c.(505-507)tCc>tGc	p.S169C		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						TTCTGTGCCTCCAATGTAATT	0.433													G	55759400	C	G	55759400	3	3	148	1	0	0	0	0	1	0	0	0	11275	855	30	4	508	4	OR6C75	12	55759400	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	4062530	55759400	78092495	49	9932											
FGD6	55785	broad.mit.edu	37	chr12	95604181	95604181	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaaggtctttgacttcTgatttcttactaactccatc	9	15	6	11	0	3	2	0	2	3	0	5	3	4	3	2	2	2	0	2	2	3	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:95604181T>C	uc001tdp.4	-	1	1103	c.879A>G	c.(877-879)tcA>tcG	p.S293S	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	293					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						CTTTGACTTCTGATTTCTTAC	0.388													C	95604181	T	C	95604181	2	2	148	1	0	0	0	0	0	0	0	1	5886	1567	55	3		3	FGD6	12	95604181	Silent	SNP	T	TCGA-16-0846-01A-01W-0424-08	39844781	95604181	38247714	50	9933											
TBX5	6910	broad.mit.edu	37	chr12	114804065	114804065	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggaggggccggaaacaCcattctcacactggtattgg	9	8	13	11	1	1	0	1	0	1	0	2	2	1	2	3	6	1	1	3	6	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr12:114804065C>A	uc001tvo.3	-	7	1382	c.887G>T	c.(886-888)gGt>gTt	p.G296V	TBX5_uc001tvp.3_Missense_Mutation_p.G296V|TBX5_uc001tvq.3_Missense_Mutation_p.G246V|TBX5_uc010syv.2_Missense_Mutation_p.G296V	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	296					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCGGAAACACCATTCTCACA	0.552													A	114804065	C	A	114804065	3	1	148	1	0	0	0	0	1	0	0	0	15761	507	18	4	744	4	TBX5	12	114804065	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	19199884	114804065	19047830	51	9934											
FAM124A	220108	broad.mit.edu	37	chr13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggccatcgacaacGtcctggcgtggatccacccc	8	6	12	15	3	0	0	0	0	0	0	3	3	2	2	5	4	2	1	5	4	1	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr13:51825705G>A	uc001vff.2	+	3	478	c.310G>A	c.(310-312)Gtc>Atc	p.V104I	FAM124A_uc001vfe.3_Missense_Mutation_p.V68I|FAM124A_uc001vfg.2_Missense_Mutation_p.V68I	NM_145019	NP_659456	Q86V42	F124A_HUMAN	Homo sapiens family with sequence similarity 124A (FAM124A), transcript variant 1, mRNA.	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682													A	51825705	G	A	51825705	3	1	148	1	0	0	0	0	1	0	0	0	5470	1145	40	1	324	1	FAM124A	13	51825705	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		51825705	63344173	52	9935											
FOXA1	3169	broad.mit.edu	37	chr14	38061904	38061904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgttgctgaccgggaCggaggagtaggcctggagtg	7	9	18	7	2	1	1	1	1	0	0	1	5	1	5	2	5	1	4	2	5	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr14:38061904C>T	uc001wuf.3	-	1	397	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	FOXA1_uc010tpz.2_5'UTR	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	29					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CTGACCGGGACGGAGGAGTAG	0.632													T	38061904	C	T	38061904	3	4	148	1	0	0	0	0	1	0	0	0	6038	536	19	1	1337	1	FOXA1	14	38061904	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		38061904	69287636	53	9936											
UNC13C	440279	broad.mit.edu	37	chr15	54556392	54556392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaagagttctaaacatGgtgccgaagacaagactcag	17	6	10	8	1	2	4	1	0	1	4	2	5	2	4	1	1	2	1	1	1	6	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:54556392G>A	uc021smr.1	+	6	3469	c.3469G>A	c.(3469-3471)Ggt>Agt	p.G1157S	UNC13C_uc021sms.1_Missense_Mutation_p.G1159S|UNC13C_uc002acl.3_5'UTR	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1159					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCTAAACATGGTGCCGAAGA	0.398													A	54556392	G	A	54556392	3	1	148	1	0	0	0	0	1	0	0	0	17088	1348	47	2	3501	2	UNC13C	15	54556392	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		54556392	47975000	54	9937											
FAM108C1	58489	broad.mit.edu	37	chr15	81041941	81041941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcctcgaggtatgaatgCgcagcggtaattctccattc	8	12	11	10	3	1	1	0	1	1	0	4	2	1	1	2	3	2	3	2	3	3	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:81041941C>T	uc002bfu.3	+	1	797	c.678C>T	c.(676-678)tgC>tgT	p.C226C	FAM108C1_uc002bft.3_Intron	NM_021214	NP_067037	Q6PCB6	F108C_HUMAN	Homo sapiens family with sequence similarity 108, member C1 (FAM108C1), mRNA.	226							hydrolase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)	5						GGTATGAATGCGCAGCGGTAA	0.507													T	81041941	C	T	81041941	2	4	148	1	0	0	0	0	0	0	0	1	5438	776	27	1		1	FAM108C1	15	81041941	Silent	SNP	C	TCGA-16-0846-01A-01W-0424-08	26485549	81041941	21489451	55	9938											
SLC28A1	9154	broad.mit.edu	37	chr15	85448820	85448820	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcagtttgtacttggActcctcgtcatcagaacaga	10	11	10	10	1	2	2	2	0	0	2	4	4	3	4	1	2	3	3	1	2	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr15:85448820A>T	uc002blg.3	+	7	856	c.654A>T	c.(652-654)ggA>ggT	p.G218G	SLC28A1_uc010upd.1_Silent_p.G140G|SLC28A1_uc010bnb.3_Silent_p.G218G|SLC28A1_uc010upe.2_Silent_p.G218G|SLC28A1_uc010upf.1_Silent_p.G218G|SLC28A1_uc010upg.1_Silent_p.G218G	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	218					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTGTACTTGGACTCCTCGTCA	0.567													T	85448820	A	T	85448820	2	4	148	1	0	0	0	0	0	0	0	1	14625	262	10	5		5	SLC28A1	15	85448820	Silent	SNP	A	TCGA-16-0846-01A-01W-0424-08	4406879	85448820	17082572	56	9939											
IL4R	3566	broad.mit.edu	37	chr16	27357926	27357926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcaacatttggagtgaaaAcgacccggcagatgtgagtg	13	8	13	7	2	1	3	1	2	0	1	1	5	1	4	1	2	2	1	1	2	3	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:27357926A>T	uc002don.3	+	5	742	c.500A>T	c.(499-501)aAc>aTc	p.N167I	IL4R_uc002dom.3_Missense_Mutation_p.N167I|IL4R_uc002dop.4_Missense_Mutation_p.N152I|IL4R_uc010bxy.3_Missense_Mutation_p.N167I|IL4R_uc002doo.3_Missense_Mutation_p.T9S	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	167	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TGGAGTGAAAACGACCCGGCA	0.542													T	27357926	A	T	27357926	3	4	148	1	0	0	0	0	1	0	0	0	7756	43	2	5	514	5	IL4R	16	27357926	Missense_Mutation	SNP	A	TCGA-16-0846-01A-01W-0424-08		27357926	62996827	57	9940											
ZNF319	57567	broad.mit.edu	37	chr16	58030933	58030933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttgtgccgcagcagctCggcagattggtcaaagcctt	8	9	12	12	2	1	1	1	0	0	1	2	1	1	1	2	2	4	5	2	2	1	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:58030933C>T	uc002emx.1	-	1	1860	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ZNF319_uc021tjd.1_Missense_Mutation_p.E413K	NM_020807	NP_065858	Q9P2F9	ZN319_HUMAN	Homo sapiens zinc finger protein 319 (ZNF319), mRNA.	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CGCAGCAGCTCGGCAGATTGG	0.647													T	58030933	C	T	58030933	3	4	148	1	0	0	0	0	1	0	0	0	17938	893	31	1	515	1	ZNF319	16	58030933	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	30673007	58030933	32323820	58	9941											
HYDIN	54768	broad.mit.edu	37	chr16	70917863	70917863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagtgtaaagaatgccGgcagggtggactgcagggtc	12	6	16	7	1	0	1	0	0	0	1	1	2	0	2	1	4	3	4	1	4	4	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr16:70917863G>A	uc002ezr.3	-	58	10087	c.9936C>T	c.(9934-9936)gcC>gcT	p.A3312A		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3313								p.A3312A(1)|p.A3264A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AAAGAATGCCGGCAGGGTGGA	0.522													A	70917863	G	A	70917863	2	1	148	1	0	0	0	0	0	0	0	1	7525	1103	39	1		1	HYDIN	16	70917863	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	12886930	70917863	19436890	59	9942											
MYBBP1A	10514	broad.mit.edu	37	chr17	4449142	4449142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctcgtgaccaaggacccaccGatggtcttggtgcggctccg	6	8	13	14	4	1	1	0	1	1	0	3	3	2	2	4	4	1	1	4	4	1	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:4449142G>C	uc002fxz.4	-	14	1983	c.1921_splice	c.e14+1	p.D641_splice	MYBBP1A_uc002fyb.4_Splice_Site_p.D641_splice|MYBBP1A_uc010vsa.2_5'Flank	NM_001105538	NP_001099008	Q9BQG0	MBB1A_HUMAN	Homo sapiens MYB binding protein (P160) 1a (MYBBP1A), transcript variant 1, mRNA.	641					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AGGACCCACCGATGGTCTTGG	0.652													C	4449142	G	C	4449142	3	2	148	1	0	0	0	0	1	0	0	0	10084	1072	37	4	2158	4	MYBBP1A	17	4449142	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		4449142	76746068	60	9943											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:7578395G>A	uc002gim.2	-	4	729	c.535C>T	c.(535-537)Cat>Tat	p.H179Y	TP53_uc002gig.1_Missense_Mutation_p.H179Y|TP53_uc002gih.3_Missense_Mutation_p.H179Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.H47Y|TP53_uc010cnf.1_Missense_Mutation_p.H47Y|TP53_uc002gii.1_Missense_Mutation_p.H47Y|TP53_uc010cni.1_Missense_Mutation_p.H179Y|TP53_uc010cnh.1_Missense_Mutation_p.H179Y|TP53_uc002gij.2_Missense_Mutation_p.H179Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.H86Y|TP53_uc002gio.2_Missense_Mutation_p.H47Y|TP53_uc010vug.2_Missense_Mutation_p.H140Y	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(188)|p.H179R(106)|p.H179L(35)|p.H179N(30)|p.H179D(24)|p.H179Q(19)|p.P177_C182delPHHERC(16)|p.H178fs*69(15)|p.H178Y(8)|p.0?(8)|p.C176_R181delCPHHER(6)|p.H47Y(6)|p.H178fs*3(6)|p.H178P(6)|p.H86Y(6)|p.R175_E180delRCPHHE(6)|p.H178Q(5)|p.H178D(5)|p.H178_S183delHHERCS(4)|p.H179fs*68(3)|p.R174fs*24(3)|p.H179P(3)|p.H178N(3)|p.P177_H179delPHH(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.H179del(2)|p.H179H(2)|p.P177fs*3(2)|p.H178H(2)|p.V173fs*59(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.H178fs*6(2)|p.P177_E180delPHHE(2)|p.R174fs*1(2)|p.H178_H179>QY(2)|p.K164_P219del(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.R175_H178>X(1)|p.H178L(1)|p.E171fs*1(1)|p.P177_C182del(1)|p.R81fs*24(1)|p.H178del(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H179fs*?(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			A	7578395	G	A	7578395	3	1	148	1	0	0	0	0	1	0	0	0	16482	1348	47	2	763	2	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	3129253	7578395	73616815	61	9944											
MYOCD	93649	broad.mit.edu	37	chr17	12656063	12656063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccttcggcctgcacccGtccccagtccacgtgtgcac	4	8	8	21	3	0	0	0	0	0	0	4	0	3	0	7	1	2	2	7	1	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr17:12656063G>A	uc002gno.2	+	9	1757	c.1458G>A	c.(1456-1458)ccG>ccA	p.P486P	MYOCD_uc002gnn.2_Silent_p.P486P|MYOCD_uc002gnp.1_Silent_p.P390P|MYOCD_uc002gnq.2_Silent_p.P205P	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	486	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		GCCTGCACCCGTCCCCAGTCC	0.632													A	12656063	G	A	12656063	2	1	148	1	0	0	0	0	0	0	0	1	10163	1132	40	1		1	MYOCD	17	12656063	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	5077668	12656063	68539147	62	9945											
LRRC30	339291	broad.mit.edu	37	chr18	7231554	7231554	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgagctgagcttgtgcCgaaagctggaggtcctgagc	7	7	16	11	3	0	2	0	2	0	0	1	5	1	3	3	3	5	3	3	3	1	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:7231554C>T	uc010wzk.2	+	0	418	c.418C>T	c.(418-420)Cga>Tga	p.R140*		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	140										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGCTTGTGCCGAAAGCTGGA	0.572													T	7231554	C	T	7231554	4	4	148	1	0	0	0	0	0	1	0	0	9055	644	23	1	420	1	LRRC30	18	7231554	Nonsense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		7231554	70845694	63	9946											
MIB1	57534	broad.mit.edu	37	chr18	19395686	19395686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgctcgaaacaagcgccGacagacaccacttcatattg	14	7	8	12	3	1	1	1	0	0	1	2	4	1	1	2	0	3	1	2	0	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:19395686G>A	uc002ktq.3	+	10	1589	c.1589G>A	c.(1588-1590)cGa>cAa	p.R530Q	MIB1_uc002ktp.3_Missense_Mutation_p.R169Q	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	530					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			AACAAGCGCCGACAGACACCA	0.438													A	19395686	G	A	19395686	3	1	148	1	0	0	0	0	1	0	0	0	9641	1058	37	1	1631	1	MIB1	18	19395686	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	12164132	19395686	58681562	64	9947											
SERPINB11	89778	broad.mit.edu	37	chr18	61377523	61377523	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataacatcttcttttcttcGctgagtctgctttatgctct	6	19	6	10	1	5	1	0	1	5	0	6	2	5	1	0	0	3	3	0	0	2	7			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:61377523G>A	uc002ljk.4	+	1	267	c.96G>A	c.(94-96)tcG>tcA	p.S32S	SERPINB11_uc010xes.2_5'UTR|SERPINB11_uc010dqd.3_5'UTR|SERPINB11_uc002ljj.4_5'UTR|SERPINB11_uc010dqe.3_5'UTR|SERPINB11_uc010dqf.3_Silent_p.S32S	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	32					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TCTTTTCTTCGCTGAGTCTGC	0.433													A	61377523	G	A	61377523	2	1	148	1	0	0	0	0	0	0	0	1	14191	1074	38	1		1	SERPINB11	18	61377523	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	41981837	61377523	16699725	65	9948											
SALL3	27164	broad.mit.edu	37	chr18	76753193	76753193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaccgcaagggcaagcCgcccaatgtgtcggtgttcg	9	6	14	12	4	0	0	0	0	0	0	2	1	0	0	3	2	2	4	3	2	4	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr18:76753193C>T	uc002lmt.3	+	1	1202	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	SALL3_uc010dra.3_Missense_Mutation_p.P8L	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		AAGGGCAAGCCGCCCAATGTG	0.662													T	76753193	C	T	76753193	3	4	148	1	0	0	0	0	1	0	0	0	13903	652	23	1	1208	1	SALL3	18	76753193	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	15375670	76753193	1324055	66	9949											
HCN2	610	broad.mit.edu	37	chr19	605149	605149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgctctgccactgggacgGctgcctgcagttcctggtgc	3	10	14	14	1	1	0	0	0	1	0	2	1	2	1	3	3	5	5	3	3	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:605149G>A	uc002lpe.3	+	2	1198	c.1145G>A	c.(1144-1146)gGc>gAc	p.G382D		NM_001194	NP_001185	Q9UL51	HCN2_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 2 (HCN2), mRNA.	382					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|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)		CACTGGGACGGCTGCCTGCAG	0.617													A	605149	G	A	605149	3	1	148	1	0	0	0	0	1	0	0	0	7052	1203	42	2	1155	2	HCN2	19	605149	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		605149	58523834	67	9950											
REEP6	92840	broad.mit.edu	37	chr19	1496383	1496383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcctaaggcaccacgggGccgtagacagaatcatgaac	12	7	11	11	2	1	3	1	1	0	2	2	3	2	3	3	3	1	3	3	3	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1496383G>T	uc002ltc.3	+	3	552	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_138393	NP_612402	Q96HR9	REEP6_HUMAN	Homo sapiens receptor accessory protein 6 (REEP6), mRNA.	150			A -> D (in dbSNP:rs2271412).			integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GCACCACGGGGCCGTAGACAG	0.657													T	1496383	G	T	1496383	3	4	148	1	0	0	0	0	1	0	0	0	13297	1203	42	4	462	4	REEP6	19	1496383	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	891234	1496383	57632600	68	9951											
ADAT3	113179	broad.mit.edu	37	chr19	1912807	1912807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcgcgcggccagggccGcggcacctacgacttcagac	6	4	15	16	7	1	1	1	0	0	1	1	2	1	1	3	4	1	1	3	4	1	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:1912807G>T	uc002luh.3	+	1	985	c.713G>T	c.(712-714)cGc>cTc	p.R238L	SCAMP4_uc002lui.1_Intron|SCAMP4_uc002luj.3_Intron|SCAMP4_uc002luk.3_Intron|SCAMP4_uc010dss.3_Intron|ADAT3_uc021umn.1_Missense_Mutation_p.R238L	NM_138422	NP_612431	Q96EY9	ADAT3_HUMAN	Homo sapiens adenosine deaminase, tRNA-specific 3 (ADAT3), mRNA.	238					tRNA processing		hydrolase activity|zinc ion binding			breast(1)|kidney(3)|pancreas(1)|skin(2)	7		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		GGCCAGGGCCGCGGCACCTAC	0.741													T	1912807	G	T	1912807	3	4	148	1	0	0	0	0	1	0	0	0	286	1087	38	4	715	4	ADAT3	19	1912807	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	416424	1912807	57216176	69	9952											
ILF3	3609	broad.mit.edu	37	chr19	10794068	10794068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggatggacagaagttccaAggtgctggttccaacaaaaa	14	8	12	7	0	0	1	0	0	0	1	2	3	2	3	2	4	2	3	2	4	5	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:10794068A>G	uc002mpn.3	+	14	2018	c.1701A>G	c.(1699-1701)caA>caG	p.Q567Q	ILF3_uc010xli.1_Silent_p.Q165Q|ILF3_uc002mpm.2_Silent_p.Q571Q|ILF3_uc002mpl.2_Silent_p.Q567Q|ILF3_uc002mpk.2_Silent_p.Q567Q|ILF3_uc002mpo.3_Silent_p.Q571Q|ILF3_uc002mpp.3_Silent_p.Q392Q|ILF3_uc002mpq.3_5'Flank	NM_012218	NP_036350	Q12906	ILF3_HUMAN	Homo sapiens interleukin enhancer binding factor 3, 90kDa (ILF3), transcript variant 1, mRNA.	567	DRBM 2.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			AGAAGTTCCAAGGTGCTGGTT	0.572													G	10794068	A	G	10794068	2	3	148	1	0	0	0	0	0	0	0	1	7770	69	3	3		3	ILF3	19	10794068	Silent	SNP	A	TCGA-16-0846-01A-01W-0424-08	8881261	10794068	48334915	70	9953											
OR10H5	284433	broad.mit.edu	37	chr19	15905136	15905136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccacccagcgctccatcgCcttcctggcctgtgccagtc	4	9	9	19	2	0	0	0	0	0	0	5	0	3	0	7	1	2	1	7	1	0	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:15905136C>T	uc010xos.2	+	0	278	c.278C>T	c.(277-279)gCc>gTc	p.A93V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CGCTCCATCGCCTTCCTGGCC	0.607													T	15905136	C	T	15905136	3	4	148	1	0	0	0	0	1	0	0	0	10985	739	26	2	280	2	OR10H5	19	15905136	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	5111068	15905136	43223847	71	9954											
MYO9B	4650	broad.mit.edu	37	chr19	17312748	17312748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccagataaatgacctccGttcccagaagacgcccattg	11	9	7	14	2	0	4	0	1	0	3	3	4	3	4	5	0	0	1	5	0	3	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:17312748G>A	uc010eak.3	+	26	4729	c.4577G>A	c.(4576-4578)cGt>cAt	p.R1526H	MYO9B_uc002nfi.3_Missense_Mutation_p.R1526H|MYO9B_uc002nfj.1_Missense_Mutation_p.R1526H|MYO9B_uc002nfl.1_Missense_Mutation_p.R75H	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1526	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						AATGACCTCCGTTCCCAGAAG	0.572													A	17312748	G	A	17312748	3	1	148	1	0	0	0	0	1	0	0	0	10161	1145	40	1	4679	1	MYO9B	19	17312748	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	1407612	17312748	41816235	72	9955											
PIK3R2	5296	broad.mit.edu	37	chr19	18280016	18280016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcactaccagcacgcctCgctggtgcagcacaacgacg	9	5	11	16	4	0	0	0	0	0	0	1	1	0	0	2	1	6	6	2	1	2	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:18280016C>T	uc002nia.1	+	15	2611	c.2099C>T	c.(2098-2100)tCg>tTg	p.S700L	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	700	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CAGCACGCCTCGCTGGTGCAG	0.721													T	18280016	C	T	18280016	3	4	148	1	0	0	0	0	1	0	0	0	11996	893	31	1	2157	1	PIK3R2	19	18280016	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	967268	18280016	40848967	73	9956											
TSHZ3	57616	broad.mit.edu	37	chr19	31769684	31769685	+	Frame_Shift_Ins	INS	-	-	T																															atggtggctttgggggttccINSacctgtggaatctggggagc																										TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:31769684_31769685insT	uc002nsy.4	-	1	1079_1080	c.1014_1015insA	c.(1012-1017)ggtggafs	p.G338fs		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	338					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTGGGGGTTCCACCTGTGGAAT	0.564													T	31769685	-	T	31769684	7	5	148	1	0	1	1	0	0	0	0	0	16726	603	21	0	2234	0	TSHZ3	19	31769684	Frame_Shift_Ins	INS	-	TCGA-16-0846-01A-01W-0424-08	13489668	31769684	27359299	74	9957											
SLC7A10	56301	broad.mit.edu	37	chr19	33706697	33706697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccaggcccccgaagatctCtgtgacgtaggcgtagtccc	8	7	12	14	3	1	2	0	1	1	1	3	3	2	2	4	2	1	2	4	2	3	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:33706697C>T	uc002num.2	-	1	481	c.334G>A	c.(334-336)Gag>Aag	p.E112K	SLC7A10_uc010xrq.2_Intron	NM_019849	NP_062823	Q9NS82	AAA1_HUMAN	Homo sapiens solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10 (SLC7A10), mRNA.	112			E -> D (in a family with cystinuria).		blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					CCGAAGATCTCTGTGACGTAG	0.657													T	33706697	C	T	33706697	3	4	148	1	0	0	0	0	1	0	0	0	14787	922	32	2	1277	2	SLC7A10	19	33706697	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08	1937013	33706697	25422286	75	9958											
FAM71E1	112703	broad.mit.edu	37	chr19	50979619	50979619	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctggagggggcggctcctgGagatcaggccaaaggggcgg	7	4	20	10	2	1	1	1	0	0	1	2	3	2	2	3	9	0	1	3	9	1	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:50979619G>A	uc002psh.3	-	0	385	c.27C>T	c.(25-27)ctC>ctT	p.L9L	FAM71E1_uc002psg.3_Silent_p.L9L|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	9										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCGGCTCCTGGAGATCAGGCC	0.682													A	50979619	G	A	50979619	2	1	148	1	0	0	0	0	0	0	0	1	5661	1161	41	2		2	FAM71E1	19	50979619	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	17272922	50979619	8149364	76	9959											
ZNF551	284309	broad.mit.edu	37	chr19	58265771	58265771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcactgaacaccagagaGttcacactggagaaaggcca	15	5	9	12	0	2	3	2	1	0	2	2	5	2	3	3	2	1	1	3	2	2	1			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr19:58265771G>T	uc002qpx.3	+	2	1496	c.1273G>T	c.(1273-1275)Gtt>Ttt	p.V425F	ZNF587_uc002qqb.2_Intron|ZNF551_uc002qqa.3_Missense_Mutation_p.V425F	NM_173632	NP_775903	Q7Z340	ZN551_HUMAN	Homo sapiens zinc finger protein 776 (ZNF776), mRNA.	440					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACACCAGAGAGTTCACACTGG	0.428													T	58265771	G	T	58265771	3	4	148	1	0	0	0	0	1	0	0	0	18084	1029	36	4		4	ZNF551	19	58265771	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	7286152	58265771	863212	77	9960											
SEL1L2	80343	broad.mit.edu	37	chr20	13830942	13830942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgagcagccatgtcgtaCaatcttctggccaagtgaat	10	12	10	9	1	2	2	0	2	2	0	3	2	2	2	2	1	3	3	2	1	4	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:13830942C>A	uc010gcf.3	-	18	1924	c.1842G>T	c.(1840-1842)ttG>ttT	p.L614F	SEL1L2_uc002woq.4_Missense_Mutation_p.L475F|SEL1L2_uc010zrl.2_Missense_Mutation_p.L501F|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	614						integral to membrane	binding	p.R613K(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CCATGTCGTACAATCTTCTGG	0.453													A	13830942	C	A	13830942	3	1	148	1	0	0	0	0	1	0	0	0	14104	477	17	4	232	4	SEL1L2	20	13830942	Missense_Mutation	SNP	C	TCGA-16-0846-01A-01W-0424-08		13830942	49194578	78	9961											
ZBP1	81030	broad.mit.edu	37	chr20	56190589	56190589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgttgttggctgaactgagGgccaggggtctctggaattg	6	11	16	8	1	1	2	0	2	1	0	2	3	1	3	2	5	1	3	2	5	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr20:56190589G>A	uc002xyo.3	-	2	588	c.307C>T	c.(307-309)Cct>Tct	p.P103S	ZBP1_uc010gjm.3_Missense_Mutation_p.P103S|ZBP1_uc002xyp.3_Missense_Mutation_p.P28S|ZBP1_uc010zzn.2_Missense_Mutation_p.P103S	NM_030776	NP_110403	Q9H171	ZBP1_HUMAN	Homo sapiens Z-DNA binding protein 1 (ZBP1), transcript variant 1, mRNA.	103						cytoplasm|nucleus	double-stranded RNA adenosine deaminase activity|left-handed Z-DNA binding|RNA binding			large_intestine(11)|lung(8)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	27	Lung NSC(12;0.000545)|all_lung(29;0.00195)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;7.87e-13)|Epithelial(14;3.26e-09)|all cancers(14;3.62e-08)			CTGAACTGAGGGCCAGGGGTC	0.592													A	56190589	G	A	56190589	3	1	148	1	0	0	0	0	1	0	0	0	17622	1232	43	2	1083	2	ZBP1	20	56190589	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	42359647	56190589	6834931	79	9962											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578306	37578306	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtagatggcgttctcGcgctggcgcttgaagagccg	5	11	15	10	5	1	3	0	1	1	2	2	3	1	3	1	2	2	5	1	2	2	4			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:37578306G>A	uc003aqx.1	-	2	1022	c.759C>T	c.(757-759)cgC>cgT	p.R253R	C1QTNF6_uc003aqw.1_Silent_p.R234R|C1QTNF6_uc003aqy.1_Silent_p.R253R|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	234	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TGGCGTTCTCGCGCTGGCGCT	0.652													A	37578306	G	A	37578306	2	1	148	1	0	0	0	0	0	0	0	1	1987	1074	38	1		1	C1QTNF6	22	37578306	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08		37578306	13726260	80	9963											
SH3BP1	23616	broad.mit.edu	37	chr22	38046222	38046222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgggcgtcgtcgaggcGctgatccagagcgcagacac	7	6	17	11	5	0	3	0	1	0	2	3	4	1	3	1	3	1	2	1	3	0	0			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:38046222G>A	uc011anl.1	+	15	2216	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	SH3BP1_uc003atg.1_Non-coding_Transcript|SH3BP1_uc003ath.1_Silent_p.A460A|SH3BP1_uc003ati.3_Silent_p.A460A|SH3BP1_uc003atj.1_Silent_p.A396A|SH3BP1_uc003atk.1_Silent_p.A374A|AK097791_uc003atl.1_Intron			Q9Y3L3	3BP1_HUMAN	Homo sapiens SH3-domain binding protein 1 (SH3BP1), mRNA.	615					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding	p.A460A(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					TCGTCGAGGCGCTGATCCAGA	0.632													A	38046222	G	A	38046222	2	1	148	1	0	0	0	0	0	0	0	1	14337	1074	38	1		1	SH3BP1	22	38046222	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	467916	38046222	13258344	81	9964											
SMC1B	27127	broad.mit.edu	37	chr22	45754668	45754668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtactttctgcttcaGttcccatctgaaaaatatgt	9	15	7	10	0	3	1	1	1	2	0	4	1	4	1	2	1	2	3	2	1	4	5			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chr22:45754668G>A	uc003bgc.3	-	18	2922	c.2870C>T	c.(2869-2871)aCt>aTt	p.T957I	SMC1B_uc003bgd.3_Missense_Mutation_p.T957I	NM_148674	NP_683515	Q8NDV3	SMC1B_HUMAN	Homo sapiens structural maintenance of chromosomes 1B (SMC1B), mRNA.	957					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTCTGCTTCAGTTCCCATCTG	0.343													A	45754668	G	A	45754668	3	1	148	1	0	0	0	0	1	0	0	0	14876	1029	36	2	865	2	SMC1B	22	45754668	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08	7708446	45754668	5549898	82	9965											
DMD	1756	broad.mit.edu	37	chrX	32429932	32429932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataagctgccaactgcttGtcaatgaatgtgagggactc	12	11	10	8	0	1	2	1	2	0	0	2	3	1	3	1	1	4	2	1	1	5	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:32429932G>C	uc004dda.1	-	29	4414	c.4170C>G	c.(4168-4170)gaC>gaG	p.D1390E	DMD_uc004dcw.2_Missense_Mutation_p.D46E|DMD_uc004dcx.2_Missense_Mutation_p.D49E|DMD_uc004dcz.2_Missense_Mutation_p.D1267E|DMD_uc004dcy.1_Missense_Mutation_p.D1386E|DMD_uc004ddb.1_Missense_Mutation_p.D1382E|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1390					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCAACTGCTTGTCAATGAATG	0.473													C	32429932	G	C	32429932	3	2	148	1	0	0	0	0	1	0	0	0	4619	1368	48	4	7235	4	DMD	23	32429932	Missense_Mutation	SNP	G	TCGA-16-0846-01A-01W-0424-08		32429932	122840628	83	9966											
USP11	8237	broad.mit.edu	37	chrX	47104414	47104414	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctctccctcacccccaGcccagccgtacattgctatc	7	8	4	22	1	2	0	1	0	1	0	4	0	2	0	7	0	4	2	7	0	2	3			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:47104414G>C	uc004dhp.3	+	16	2216	c.2216_splice	c.e16-1	p.A739_splice	USP11_uc004dhq.3_Splice_Site_p.A465_splice	NM_004651	NP_004642	P51784	UBP11_HUMAN	Homo sapiens ubiquitin specific peptidase 11 (USP11), mRNA.	739					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.?(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTCACCCCCAGCCCAGCCGTA	0.567													C	47104414	G	C	47104414	5	2	148	1	0	0	0	0	0	0	1	0	17144	985	34	4	2277	4	USP11	23	47104414	Splice_Site	SNP	G	TCGA-16-0846-01A-01W-0424-08	14674482	47104414	108166146	84	9967											
PCDH11X	27328	broad.mit.edu	37	chrX	91133526	91133526	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggacagcctgattctctcTtcagtgttgtaattgtcaat	9	16	8	8	0	4	1	2	1	2	0	5	2	4	2	1	1	1	2	1	1	3	6			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:91133526T>A	uc004efk.2	+	1	3132	c.2287T>A	c.(2287-2289)Ttc>Atc	p.F763I	PCDH11X_uc004efl.2_Missense_Mutation_p.F763I|PCDH11X_uc010nmv.2_Missense_Mutation_p.F763I|PCDH11X_uc004efm.2_Missense_Mutation_p.F763I|PCDH11X_uc004efn.2_Missense_Mutation_p.F763I|PCDH11X_uc004efo.2_Missense_Mutation_p.F763I|PCDH11X_uc004efh.2_Missense_Mutation_p.F763I|PCDH11X_uc004efj.1_Missense_Mutation_p.F763I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	763	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGATTCTCTCTTCAGTGTTGT	0.433													A	91133526	T	A	91133526	3	1	148	1	0	0	0	0	1	0	0	0	11584	1609	56	5	2293	5	PCDH11X	23	91133526	Missense_Mutation	SNP	T	TCGA-16-0846-01A-01W-0424-08	44029112	91133526	64137034	85	9968											
GABRE	2564	broad.mit.edu	37	chrX	151124002	151124002	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaattcttacgagaaaaGgtgcccaacgtggtcatggt	12	9	13	7	2	2	1	1	0	1	1	2	3	2	2	1	4	3	0	1	4	5	2			TCGA-16-0846-01A-01W-0424-08	TCGA-16-0846-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cf3eb226-36c2-4498-a5c1-3f161de6fa3f	2f7cbc27-2715-4414-b1b0-601ba7627d40	g.chrX:151124002G>T	uc004ffi.3	-	7	1029	c.975C>A	c.(973-975)acC>acA	p.T325T	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc022cgw.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	325					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACGAGAAAAGGTGCCCAACG	0.493													T	151124002	G	T	151124002	2	4	148	1	0	0	0	0	0	0	0	1	6222	987	35	4		4	GABRE	23	151124002	Silent	SNP	G	TCGA-16-0846-01A-01W-0424-08	59990476	151124002	4146558	86	9969											
DNAJC6	9829	broad.mit.edu	37	chr1	65845142	65845142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcacaacctttttgctGtgtgtcggaatatgtataac	9	15	9	8	1	1	0	0	0	1	0	2	1	1	1	1	1	4	3	1	1	5	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:65845142G>A	uc001dce.1	+	4	802	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	DNAJC6_uc001dcc.1_Missense_Mutation_p.V175M|DNAJC6_uc001dcd.1_Missense_Mutation_p.V144M|DNAJC6_uc010opc.1_Missense_Mutation_p.V131M	NM_014787	NP_055602	O75061	AUXI_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 6 (DNAJC6), mRNA.	144	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CCTTTTTGCTGTGTGTCGGAA	0.458													A	65845142	G	A	65845142	3	1	149	1	0	0	0	0	1	0	0	0	4692	1377	48	2	448	2	DNAJC6	1	65845142	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		65845142	183405479	1	9970											
VAV3	10451	broad.mit.edu	37	chr1	108417540	108417540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctttccaaagtcacgaaCatcaaacaagtcaaatgcct	16	9	4	12	1	3	0	3	0	0	0	4	1	4	0	3	0	4	0	3	0	6	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:108417540C>A	uc001dvk.1	-	1	358	c.304G>T	c.(304-306)Gtt>Ttt	p.V102F	VAV3_uc010ouw.1_Missense_Mutation_p.V102F|VAV3_uc001dvl.1_5'UTR|VAV3_uc010oux.1_Missense_Mutation_p.V102F	NM_006113	NP_006104	Q9UKW4	VAV3_HUMAN	Homo sapiens vav 3 guanine nucleotide exchange factor (VAV3), transcript variant 1, mRNA.	102	CH.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		AAGTCACGAACATCAAACAAG	0.358													A	108417540	C	A	108417540	3	1	149	1	0	0	0	0	1	0	0	0	17235	478	17	4	2368	4	VAV3	1	108417540	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	42572398	108417540	140833081	2	9971											
FLG	2312	broad.mit.edu	37	chr1	152284952	152284952	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatccatgggaggactCagactgtttatgagtgctca	9	12	11	9	0	2	2	2	1	0	1	4	4	4	4	2	2	1	2	2	2	1	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:152284952C>A	uc001ezu.1	-	2	2446	c.2410G>T	c.(2410-2412)Gag>Tag	p.E804*	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	804	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGAGGACTCAGACTGTTTA	0.572									Ichthyosis				A	152284952	C	A	152284952	4	1	149	1	0	0	0	0	0	1	0	0	5971	835	29	4	9779	4	FLG	1	152284952	Nonsense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	43867412	152284952	96965669	3	9972											
CD1E	913	broad.mit.edu	37	chr1	158323687	158323687	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcaagggaagtcagaCgagagtgcaagagggtgtgg	13	5	18	5	1	1	3	1	0	0	3	1	5	1	4	0	3	3	3	0	3	4	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr1:158323687C>T	uc001fse.3	+	0					CD1E_uc010pid.2_Intron|CD1E_uc010pie.2_5'UTR|CD1E_uc001fsh.3_5'UTR|CD1E_uc001fry.3_5'UTR|CD1E_uc001fsf.3_5'UTR|CD1E_uc001fsg.3_5'UTR|CD1E_uc009wsv.3_5'UTR|CD1E_uc001fsj.3_5'UTR|CD1E_uc001fsk.3_5'UTR|CD1E_uc001fsa.3_5'UTR|CD1E_uc001fsd.3_5'UTR|CD1E_uc001frz.3_5'UTR|CD1E_uc010pig.2_5'UTR|CD1E_uc001fsc.3_5'UTR|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.						antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGAAGTCAGACGAGAGTGCAA	0.542													T	158323687	C	T	158323687	1	4	149	1	0	0	0	0	0	0	0	0	3008	551	19	1		1	CD1E	1	158323687	Translation_Start_Site	SNP	C	TCGA-16-0861-01A-01W-0424-08	6038735	158323687	90926934	4	9973											
EHD3	30845	broad.mit.edu	37	chr2	31467312	31467312	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggcaacgccttcttgAacaggtgagtgtggagggaa	9	10	14	8	1	1	2	0	2	1	0	1	4	1	4	2	4	2	1	2	4	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:31467312A>T	uc002rnu.3	+	1	1008	c.400A>T	c.(400-402)Aac>Tac	p.N134Y	EHD3_uc010ymt.2_Missense_Mutation_p.N134Y	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	134					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGCCTTCTTGAACAGGTGAGT	0.537													T	31467312	A	T	31467312	3	4	149	1	0	0	0	0	1	0	0	0	5018	246	9	5	406	5	EHD3	2	31467312	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08		31467312	211732061	5	9974											
BIRC6	57448	broad.mit.edu	37	chr2	32774411	32774411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacataaatcccgtcagtaGtgcggtaaatggagaagctc	13	10	10	8	2	1	1	1	0	0	1	3	2	2	1	1	2	3	3	1	2	7	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:32774411G>A	uc010ezu.3	+	64	13141	c.13007G>A	c.(13006-13008)aGt>aAt	p.S4336N		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	4336					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CCCGTCAGTAGTGCGGTAAAT	0.398													A	32774411	G	A	32774411	3	1	149	1	0	0	0	0	1	0	0	0	1444	1029	36	2	13265	2	BIRC6	2	32774411	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1307099	32774411	210424962	6	9975											
TUBA3D	113457	broad.mit.edu	37	chr2	132237806	132237806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccaggtctccacagcCgtggtggagccctacaactc	7	6	10	18	1	1	0	0	0	1	0	3	1	1	1	6	3	4	0	6	3	2	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:132237806C>T	uc002tsu.4	+	3	733	c.540C>T	c.(538-540)gcC>gcT	p.A180A		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	180					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		TCTCCACAGCCGTGGTGGAGC	0.547													T	132237806	C	T	132237806	2	4	149	1	0	0	0	0	0	0	0	1	16849	639	23	1		1	TUBA3D	2	132237806	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	99463395	132237806	110961567	7	9976											
PDE11A	50940	broad.mit.edu	37	chr2	178969184	178969184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtcttcttgcctgctTcagcatctcccatgttgctc	6	15	7	13	0	4	0	1	0	3	0	6	0	4	0	2	1	4	4	2	1	2	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:178969184T>C	uc002ulr.3	-	1	106	c.7A>G	c.(7-9)Aag>Gag	p.K3E	PDE11A_uc002ult.1_Missense_Mutation_p.K3E	NM_001077197	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 3, mRNA.	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			CTTGCCTGCTTCAGCATCTCC	0.408									Primary Pigmented Nodular Adrenocortical Disease, Familial				C	178969184	T	C	178969184	3	2	149	1	0	0	0	0	1	0	0	0	11707	1792	62	3	3040	3	PDE11A	2	178969184	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	46731378	178969184	64230189	8	9977											
TTN	7273	broad.mit.edu	37	chr2	179442852	179442852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtctctcatccttatcGgagtcttgttagctctcttc	7	17	6	11	1	4	0	1	0	3	0	9	1	5	1	1	1	1	2	1	1	4	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:179442852G>A	uc021vsy.1	-	270	60911	c.60686C>T	c.(60685-60687)cCg>cTg	p.P20229L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P13924L|TTN_uc021vta.1_Missense_Mutation_p.P13857L|TTN_uc021vtb.1_Missense_Mutation_p.P13732L|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21156	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATCCTTATCGGAGTCTTGTT	0.418													A	179442852	G	A	179442852	3	1	149	1	0	0	0	0	1	0	0	0	16837	1116	39	1	39753	1	TTN	2	179442852	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	473668	179442852	63756521	9	9978											
PTPRN	5798	broad.mit.edu	37	chr2	220159756	220159756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctctgccggccagctgagGaagtggaactgcgtgagcgt	7	7	15	12	3	1	2	0	2	1	0	1	4	1	4	3	3	5	1	3	3	2	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr2:220159756G>A	uc002vkz.3	-	18	2857	c.2616C>T	c.(2614-2616)ttC>ttT	p.F872F	PTPRN_uc010zlc.2_Silent_p.F782F|PTPRN_uc002vla.3_Silent_p.F843F|MIR153-1_uc010zld.1_5'Flank	NM_002846	NP_001186693	Q16849	PTPRN_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N (PTPRN), transcript variant 1, mRNA.	872	Tyrosine-protein phosphatase.				response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GCCAGCTGAGGAAGTGGAACT	0.687													A	220159756	G	A	220159756	2	1	149	1	0	0	0	0	0	0	0	1	12895	1165	41	2		2	PTPRN	2	220159756	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	40716904	220159756	23039617	10	9979											
DLEC1	9940	broad.mit.edu	37	chr3	38139020	38139020	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtgaggtcggggatttTgagttgaactttactggggg	7	12	16	6	1	0	3	0	3	0	0	1	4	0	4	1	5	2	1	1	5	2	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:38139020T>C	uc003chp.1	+	16	2478	c.2457T>C	c.(2455-2457)ttT>ttC	p.F819F	DLEC1_uc003cho.1_Silent_p.F819F|DLEC1_uc010hgv.1_Silent_p.F819F|DLEC1_uc003chr.1_5'UTR|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	819					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		TCGGGGATTTTGAGTTGAACT	0.562													C	38139020	T	C	38139020	2	2	149	1	0	0	0	0	0	0	0	1	4591	1809	63	3		3	DLEC1	3	38139020	Silent	SNP	T	TCGA-16-0861-01A-01W-0424-08		38139020	159883410	11	9980											
ATP6V1A	523	broad.mit.edu	37	chr3	113503555	113503555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctaggttggtagtcatAtcactggcggagacatttat	10	14	10	7	1	3	1	2	0	1	1	4	2	3	1	0	4	0	2	0	4	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr3:113503555A>G	uc003eao.3	+	4	547	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	ATP6V1A_uc011bik.2_Missense_Mutation_p.I114V	NM_001690	NP_001681	P38606	VATA_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A (ATP6V1A), mRNA.	147					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGGTAGTCATATCACTGGCGG	0.373													G	113503555	A	G	113503555	3	3	149	1	0	0	0	0	1	0	0	0	1182	449	16	3	453	3	ATP6V1A	3	113503555	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	75364535	113503555	84518875	12	9981											
FRYL	285527	broad.mit.edu	37	chr4	48575256	48575256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatgtaattcctctattaGttccctggaagaaaaatggt	12	13	10	6	0	1	1	0	0	1	1	3	3	3	3	2	3	0	2	2	3	6	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:48575256G>C	uc003gyh.1	-	25	3456	c.2851C>G	c.(2851-2853)Cta>Gta	p.L951V	FRYL_uc003gyk.3_Missense_Mutation_p.L951V	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	951					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCCTCTATTAGTTCCCTGGAA	0.348													C	48575256	G	C	48575256	3	2	149	1	0	0	0	0	1	0	0	0	6116	1020	36	4	6346	4	FRYL	4	48575256	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		48575256	142579020	13	9982											
PITX2	5308	broad.mit.edu	37	chr4	111539315	111539315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcatactggcaagcaCtcaggttggaggccgggttc	8	8	13	12	1	1	0	1	0	0	0	2	1	1	1	2	5	3	5	2	5	2	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:111539315C>T	uc003iaf.3	-	6	2743	c.920G>A	c.(919-921)aGt>aAt	p.S307N	PITX2_uc003iac.3_Missense_Mutation_p.S314N|PITX2_uc003iad.3_Missense_Mutation_p.S307N|PITX2_uc021xqr.1_Missense_Mutation_p.S307N|PITX2_uc003iae.3_Missense_Mutation_p.S261N|PITX2_uc021xqs.1_Missense_Mutation_p.S261N	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	307					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTGGCAAGCACTCAGGTTGGA	0.632													T	111539315	C	T	111539315	3	4	149	1	0	0	0	0	1	0	0	0	12032	565	20	2	37	2	PITX2	4	111539315	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	62964059	111539315	79614961	14	9983											
FGA	2243	broad.mit.edu	37	chr4	155508007	155508007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatagtccttcagatctaCttcacgagctaaagccctac	11	12	5	13	1	4	1	3	0	1	1	5	2	5	1	2	0	4	1	2	0	5	7			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr4:155508007C>T	uc003iod.1	-	4	632	c.574G>A	c.(574-576)Gta>Ata	p.V192I	FGA_uc003ioe.1_Missense_Mutation_p.V192I|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	192					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTCAGATCTACTTCACGAGCT	0.418													T	155508007	C	T	155508007	3	4	149	1	0	0	0	0	1	0	0	0	5879	565	20	2	2078	2	FGA	4	155508007	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	43968692	155508007	35646269	15	9984											
DNAH5	1767	broad.mit.edu	37	chr5	13829731	13829731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccttatgataatctgaCggtcaggcaccatcatggcc	10	10	8	13	1	4	2	3	2	1	0	4	2	4	2	3	3	0	1	3	3	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:13829731C>T	uc003jfd.2	-	37	6374	c.6332G>A	c.(6331-6333)cGt>cAt	p.R2111H		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2111	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GATAATCTGACGGTCAGGCAC	0.463									Kartagener syndrome				T	13829731	C	T	13829731	3	4	149	1	0	0	0	0	1	0	0	0	4643	536	19	1	7710	1	DNAH5	5	13829731	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		13829731	167085529	16	9985											
CMYA5	202333	broad.mit.edu	37	chr5	79030268	79030268	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaaaggatgaaaacTggatgttgggaaagccagaa	15	9	11	6	0	1	2	0	1	1	1	2	5	1	5	2	3	2	1	2	3	5	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:79030268T>G	uc003kgc.3	+	1	5752	c.5680T>G	c.(5680-5682)Tgg>Ggg	p.W1894G		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1894						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GGATGAAAACTGGATGTTGGG	0.423													G	79030268	T	G	79030268	3	3	149	1	0	0	0	0	1	0	0	0	3621	1580	55	5	5686	5	CMYA5	5	79030268	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	65200537	79030268	101884992	17	9986											
ZNF608	57507	broad.mit.edu	37	chr5	123983427	123983427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaaagtgtaaaccttatCggcctcagctttgatactgg	10	13	10	8	1	1	2	1	2	0	0	2	2	1	2	2	2	3	2	2	2	5	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:123983427C>T	uc003ktq.1	-	3	2833	c.2650G>A	c.(2650-2652)Gat>Aat	p.D884N	ZNF608_uc003ktr.1_Intron|ZNF608_uc003kts.1_Missense_Mutation_p.D884N|ZNF608_uc003ktt.1_Missense_Mutation_p.D884N	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	884						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TAAACCTTATCGGCCTCAGCT	0.532													T	123983427	C	T	123983427	3	4	149	1	0	0	0	0	1	0	0	0	18135	884	31	1	1912	1	ZNF608	5	123983427	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	44953159	123983427	56931833	18	9987											
PCDHB15	56121	broad.mit.edu	37	chr5	140625602	140625602	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccttgggactgtgttTcctctgaaaaaagctcggga	9	11	11	10	1	1	1	0	1	1	0	4	3	3	3	2	2	2	3	2	2	3	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:140625602T>G	uc003lje.3	+	0	456	c.456T>G	c.(454-456)ttT>ttG	p.F152L		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	152	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGACTGTGTTTCCTCTGAAAA	0.438													G	140625602	T	G	140625602	3	3	149	1	0	0	0	0	1	0	0	0	11616	1780	62	5	458	5	PCDHB15	5	140625602	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	16642175	140625602	40289658	19	9988											
ARHGEF37	389337	broad.mit.edu	37	chr5	148997790	148997790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccgggagcggctggcccGcatcaacacacacaccctct	8	5	9	19	3	2	0	1	0	1	0	3	1	3	1	4	3	2	2	4	3	1	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:148997790G>A	uc003lra.1	+	5	774	c.710G>A	c.(709-711)cGc>cAc	p.R237H		NM_001001669	NP_001001669	A1IGU5	ARH37_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 37 (ARHGEF37), mRNA.	237					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CGGCTGGCCCGCATCAACACA	0.632													A	148997790	G	A	148997790	3	1	149	1	0	0	0	0	1	0	0	0	909	1087	38	1	728	1	ARHGEF37	5	148997790	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	8372188	148997790	31917470	20	9989											
CLINT1	9685	broad.mit.edu	37	chr5	157232966	157232966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgctccaagatcaatggTtttggaaggatttgctgtgc	8	14	12	7	0	1	1	1	0	0	1	2	3	2	3	1	3	4	4	1	3	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:157232966T>C	uc003lxj.2	-	6	1055	c.850A>G	c.(850-852)Acc>Gcc	p.T284A	CLINT1_uc003lxi.2_Missense_Mutation_p.T266A|CLINT1_uc011ddv.2_Missense_Mutation_p.T284A	NM_014666	NP_055481	Q14677	EPN4_HUMAN	Homo sapiens clathrin interactor 1 (CLINT1), transcript variant 2, mRNA.	284					endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGATCAATGGTTTTGGAAGGA	0.473													C	157232966	T	C	157232966	3	2	149	1	0	0	0	0	1	0	0	0	3562	1725	60	3	1051	3	CLINT1	5	157232966	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	8235176	157232966	23682294	21	9990											
N4BP3	23138	broad.mit.edu	37	chr5	177548865	177548865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaggagaaggagcgcGtgctgcgctaccagcgggag	9	3	20	9	4	0	1	0	0	0	1	0	5	0	4	1	5	5	3	1	5	2	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:177548865G>A	uc003mik.1	+	4	1745	c.1498G>A	c.(1498-1500)Gtg>Atg	p.V500M	N4BP3_uc003mil.1_Missense_Mutation_p.V169M	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	500						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGGAGCGCGTGCTGCGCTA	0.687													A	177548865	G	A	177548865	3	1	149	1	0	0	0	0	1	0	0	0	10189	1145	40	1	1512	1	N4BP3	5	177548865	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	20315899	177548865	3366395	22	9991											
RASGEF1C	255426	broad.mit.edu	37	chr5	179555514	179555514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttggtcctgtaggagatggGcttgtcggcacccaccagac	7	9	13	12	1	0	2	0	0	0	2	2	3	1	2	3	4	0	3	3	4	1	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr5:179555514G>T	uc003mlq.3	-	3	832	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	RASGEF1C_uc003mlr.3_Missense_Mutation_p.P179T|RASGEF1C_uc003mlp.4_Missense_Mutation_p.P28T	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Homo sapiens RasGEF domain family, member 1C (RASGEF1C), mRNA.	179					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAGGAGATGGGCTTGTCGGCA	0.637													T	179555514	G	T	179555514	3	4	149	1	0	0	0	0	1	0	0	0	13159	1203	42	4	905	4	RASGEF1C	5	179555514	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	2006649	179555514	1359746	23	9992											
DST	667	broad.mit.edu	37	chr6	56342227	56342227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagccaaaacggtgtcGcccatagtggtggctttatt	10	11	11	9	2	0	1	0	0	0	1	1	1	0	1	2	3	2	1	2	3	5	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:56342227G>A	uc003pcy.4	-	71	13830	c.13722C>T	c.(13720-13722)ggC>ggT	p.G4574G		NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6986					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAACGGTGTCGCCCATAGTGG	0.458													A	56342227	G	A	56342227	2	1	149	1	0	0	0	0	0	0	0	1	4822	1074	38	1		1	DST	6	56342227	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08		56342227	114772840	24	9993											
ME1	4199	broad.mit.edu	37	chr6	84056002	84056002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatgcccattccattacAgccaaggtctcccaagccaa	12	7	8	14	0	1	0	0	0	1	0	3	1	2	1	5	2	4	0	5	2	4	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr6:84056002A>T	uc003pjy.3	-	4	755	c.490T>A	c.(490-492)Tgt>Agt	p.C164S	ME1_uc011dzb.2_Missense_Mutation_p.C89S|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	164					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	ATTCCATTACAGCCAAGGTCT	0.448													T	84056002	A	T	84056002	3	4	149	1	0	0	0	0	1	0	0	0	9492	188	7	5	1268	5	ME1	6	84056002	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	27713775	84056002	87059065	25	9994											
SAMD9	54809	broad.mit.edu	37	chr7	92732691	92732691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttggtgaaaatattctgcCctttcaggatattccggacc	9	13	8	11	1	2	1	1	1	1	0	3	3	3	3	4	3	1	0	4	3	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:92732691C>A	uc003umf.3	-	2	2990	c.2720G>T	c.(2719-2721)gGg>gTg	p.G907V	SAMD9_uc003umg.3_Missense_Mutation_p.G907V|SAMD9_uc022ahg.1_Missense_Mutation_p.G907V	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	907						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			AATATTCTGCCCTTTCAGGAT	0.333													A	92732691	C	A	92732691	3	1	149	1	0	0	0	0	1	0	0	0	13917	623	22	4	2053	4	SAMD9	7	92732691	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		92732691	66405972	26	9995											
AZGP1	563	broad.mit.edu	37	chr7	99569575	99569575	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcctgaaacgcggggAcgtcttcaacatgcttggac	10	7	13	11	3	2	1	1	1	1	0	2	3	2	3	1	4	3	1	1	4	3	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:99569575A>T	uc003ush.3	-	1	223	c.131T>A	c.(130-132)gTc>gAc	p.V44D		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	44					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AAACGCGGGGACGTCTTCAAC	0.502													T	99569575	A	T	99569575	3	4	149	1	0	0	0	0	1	0	0	0	1244	275	10	5	777	5	AZGP1	7	99569575	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	6836884	99569575	59569088	27	9996											
IQUB	154865	broad.mit.edu	37	chr7	123152166	123152166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataacctcttccatgagttGttcattgtctggttccaggc	7	16	8	10	0	3	1	1	1	2	0	5	1	5	1	3	2	1	3	3	2	2	7			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:123152166G>T	uc003vkn.3	-	1	806	c.229C>A	c.(229-231)Caa>Aaa	p.Q77K	IQUB_uc003vko.3_Missense_Mutation_p.Q77K|IQUB_uc010lkt.3_Non-coding_Transcript|IQUB_uc003vkp.1_Missense_Mutation_p.Q77K|IQUB_uc003vkq.2_Missense_Mutation_p.Q77K	NM_178827	NP_849149	Q8NA54	IQUB_HUMAN	Homo sapiens IQ motif and ubiquitin domain containing (IQUB), mRNA.	77										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						TCCATGAGTTGTTCATTGTCT	0.413													T	123152166	G	T	123152166	3	4	149	1	0	0	0	0	1	0	0	0	7878	1386	48	4	2194	4	IQUB	7	123152166	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	23582591	123152166	35986497	28	9997											
FAM71F1	84691	broad.mit.edu	37	chr7	128370003	128370003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccttgcacctgtgacctaCgttggagggcttcattcacg	6	12	10	13	2	2	1	2	1	0	0	3	2	3	2	3	2	2	3	3	2	1	5	rs140953386	byFrequency	TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:128370003C>T	uc003vno.1	+	5	954	c.901C>T	c.(901-903)Cgt>Tgt	p.R301C	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.R200C|FAM71F1_uc003vnp.1_Missense_Mutation_p.R299C	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	301										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						CTGTGACCTACGTTGGAGGGC	0.547													T	128370003	C	T	128370003	3	4	149	1	0	0	0	0	1	0	0	0	5662	536	19	1	923	1	FAM71F1	7	128370003	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	5217837	128370003	30768660	29	9998											
HIPK2	28996	broad.mit.edu	37	chr7	139416741	139416741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaactcggctctattttCagtttcttcacactacagaa	10	15	6	10	1	4	1	2	0	2	1	5	2	4	2	0	2	2	2	0	2	4	7			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:139416741C>T	uc003vvf.4	-	1	364	c.93G>A	c.(91-93)ctG>ctA	p.L31L	HIPK2_uc003vvd.4_Silent_p.L31L	NM_022740	NP_073577	Q9H2X6	HIPK2_HUMAN	Homo sapiens homeodomain interacting protein kinase 2 (HIPK2), transcript variant 1, mRNA.	31					apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					GCTCTATTTTCAGTTTCTTCA	0.493													T	139416741	C	T	139416741	2	4	149	1	0	0	0	0	0	0	0	1	7172	813	29	2		2	HIPK2	7	139416741	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	11046738	139416741	19721922	30	9999											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829418	146829418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacctggaggtgcccggaCggcttaaccaggacctgttc	7	9	13	12	2	0	0	0	0	0	0	1	3	0	3	4	5	3	3	4	5	2	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr7:146829418C>T	uc003weu.2	+	7	1681	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	389					behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R389Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGTGCCCGGACGGCTTAACCA	0.468										HNSCC(39;0.1)			T	146829418	C	T	146829418	3	4	149	1	0	0	0	0	1	0	0	0	3678	527	19	1	1195	1	CNTNAP2	7	146829418	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	7412677	146829418	12309245	31	10000											
IARS	3376	broad.mit.edu	37	chr9	95007245	95007246	+	Missense_Mutation	DNP	GC	GC	AA																															ggaaacagaaaaatacctgaGcatctgagtgtgcttcaaat																										TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:95007245_95007246GC>AA	uc004art.1	-	26	3156_3157	c.2899_2900GC>TT	c.(2899-2901)gct>TTt	p.A967F	IARS_uc004ars.1_Missense_Mutation_p.A812F|IARS_uc004aru.3_Missense_Mutation_p.A967F|IARS_uc010mqr.2_Missense_Mutation_p.A857F|IARS_uc010mqt.2_Missense_Mutation_p.A190F	NM_013417	NP_038203	P41252	SYIC_HUMAN	Homo sapiens isoleucyl-tRNA synthetase (IARS), transcript variant long, mRNA.	967					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	AAATACCTGAGCATCTGAGTGT	0.446													AA	95007246	GC	AA	95007245	3	1	149	1	0	0	0	0	1	0	0	0	7531	971	34	2	920	2	IARS	9	95007245	Missense_Mutation	DNP	GC	TCGA-16-0861-01A-01W-0424-08		95007245	46206186	32	10001											
LPAR1	1902	broad.mit.edu	37	chr9	113703772	113703772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggggtccagaactatgcCgagacattctcatagtcctc	9	9	10	13	2	1	2	1	0	1	2	5	3	3	2	4	2	2	0	4	2	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:113703772C>T	uc011lwo.2	-	1	727	c.725G>A	c.(724-726)cGg>cAg	p.R242Q	LPAR1_uc004bfa.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwm.2_Missense_Mutation_p.R242Q|LPAR1_uc004bfc.3_Missense_Mutation_p.R241Q|LPAR1_uc011lwn.2_Missense_Mutation_p.R223Q|LPAR1_uc004bfb.3_Missense_Mutation_p.R241Q|LPAR1_uc010mub.3_Missense_Mutation_p.R241Q	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	241					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						AGAACTATGCCGAGACATTCT	0.468													T	113703772	C	T	113703772	3	4	149	1	0	0	0	0	1	0	0	0	8974	652	23	1	380	1	LPAR1	9	113703772	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	18696527	113703772	27509659	33	10002											
SUSD1	64420	broad.mit.edu	37	chr9	114860875	114860875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacaggcacttgttccctcGttgtgaagttaaacgatgtt	9	14	9	9	2	0	1	0	1	0	0	2	2	1	1	1	1	2	5	1	1	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr9:114860875G>T	uc010mui.3	-	9	1390	c.1349C>A	c.(1348-1350)aCg>aAg	p.T450K	MIR3134_uc022bma.1_Intron|SUSD1_uc004bfu.3_Missense_Mutation_p.T450K|SUSD1_uc010muj.3_Missense_Mutation_p.T450K			Q6UWL2	SUSD1_HUMAN	Homo sapiens sushi domain containing 1 (SUSD1), mRNA.	450						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TTGTTCCCTCGTTGTGAAGTT	0.443													T	114860875	G	T	114860875	3	4	149	1	0	0	0	0	1	0	0	0	15503	1145	40	4	926	4	SUSD1	9	114860875	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1157103	114860875	26352556	34	10003											
PTEN	5728	broad.mit.edu	37	chr10	89685315	89685318	+	Splice_Site	DEL	GTAA	GTAA	-																															cattacaagatatacaatctGtaagtatgttttcttatttg																										TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:89685315_89685318delGTAA	uc001kfb.3	+	3	1241	c.209_splice	c.e3+1	p.L70_splice	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(17)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATACAATCTGTAAGTATGTTTTC	0.275		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89685318	GTAA	-	89685315	8	5	149	1	0	1	0	1	0	0	1	0	12823	1391	48	0	220	0	PTEN	10	89685315	Splice_Site	DEL	GTAA	TCGA-16-0861-01A-01W-0424-08		89685315	45849432	35	10004											
BTRC	8945	broad.mit.edu	37	chr10	103281492	103281492	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaactgtgtgtcaaatacTttgagcagtggtcagagtca	12	11	12	6	0	3	2	3	1	0	1	3	3	3	3	0	2	3	1	0	2	3	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103281492T>G	uc001kta.3	+	4	534	c.421T>G	c.(421-423)Ttt>Gtt	p.F141V	BTRC_uc001ktb.3_Missense_Mutation_p.F105V|BTRC_uc001ktc.3_Missense_Mutation_p.F115V	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	141	Homodimerization domain D.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		TGTCAAATACTTTGAGCAGTG	0.413													G	103281492	T	G	103281492	3	3	149	1	0	0	0	0	1	0	0	0	1579	1609	56	5	439	5	BTRC	10	103281492	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08	13596177	103281492	32253255	36	10005											
PITX3	5309	broad.mit.edu	37	chr10	103990780	103990780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccccgagcggcgccgCgaagctgcctttgcatagct	6	6	12	17	5	0	0	0	0	0	0	0	2	0	0	5	1	6	3	5	1	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr10:103990780C>A	uc001kuu.1	-	3	554	c.400G>T	c.(400-402)Gcg>Tcg	p.A134S		NM_005029	NP_005020	O75364	PITX3_HUMAN	Homo sapiens paired-like homeodomain 3 (PITX3), mRNA.	134					dopaminergic neuron differentiation|lens morphogenesis in camera-type eye|midbrain development|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(2)	5		Colorectal(252;0.00957)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGCGGCGCCGCGAAGCTGCCT	0.711													A	103990780	C	A	103990780	3	1	149	1	0	0	0	0	1	0	0	0	12033	768	27	4	512	4	PITX3	10	103990780	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	709288	103990780	31543967	37	10006											
C11orf30	56946	broad.mit.edu	37	chr11	76164415	76164415	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagtaaacgatgaacggttAacaacaattgcacataagta	18	8	8	7	2	0	1	0	1	0	0	0	2	0	1	0	1	5	5	0	1	8	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:76164415A>C	uc001oxl.3	+	3	371	c.228A>C	c.(226-228)ttA>ttC	p.L76F	C11orf30_uc001oxj.3_Missense_Mutation_p.L76F|C11orf30_uc001oxk.3_Missense_Mutation_p.L76F|C11orf30_uc009yuj.1_Missense_Mutation_p.L76F|C11orf30_uc010rsa.1_Missense_Mutation_p.L76F|C11orf30_uc001oxm.3_Missense_Mutation_p.L76F|C11orf30_uc010rsb.2_Missense_Mutation_p.L76F|C11orf30_uc010rsc.2_Missense_Mutation_p.L76F|C11orf30_uc001oxn.3_Missense_Mutation_p.L76F|C11orf30_uc010rsd.2_Missense_Mutation_p.L76F	NM_020193	NP_064578	Q7Z589	EMSY_HUMAN	Homo sapiens chromosome 11 open reading frame 30 (C11orf30), mRNA.	76	ENT.|Interaction with BRCA2.				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						ATGAACGGTTAACAACAATTG	0.403													C	76164415	A	C	76164415	3	2	149	1	0	0	0	0	1	0	0	0	1648	359	13	5	238	5	C11orf30	11	76164415	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08		76164415	58842101	38	10007											
ELMOD1	55531	broad.mit.edu	37	chr11	107518220	107518220	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttgaagcccaatacTccactggaatctcggatttc	12	12	6	11	1	2	1	0	1	2	0	5	3	3	3	2	2	2	0	2	2	5	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr11:107518220T>A	uc010rvs.2	+	6	851	c.447T>A	c.(445-447)acT>acA	p.T149T	ELMOD1_uc001pjm.3_Silent_p.T149T|ELMOD1_uc010rvt.2_Silent_p.T143T	NM_018712	NP_061182	Q8N336	ELMD1_HUMAN	Homo sapiens ELMO/CED-12 domain containing 1 (ELMOD1), transcript variant 1, mRNA.	149	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		AGCCCAATACTCCACTGGAAT	0.383													A	107518220	T	A	107518220	2	1	149	1	0	0	0	0	0	0	0	1	5109	1538	54	5		5	ELMOD1	11	107518220	Silent	SNP	T	TCGA-16-0861-01A-01W-0424-08	31353805	107518220	27488296	39	10008											
WNK1	65125	broad.mit.edu	37	chr12	998382	998382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgatcacagtgacttctgCggttggtgtaagttttgaaa	10	14	12	5	1	2	3	1	3	1	0	2	4	2	3	0	2	1	3	0	2	2	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:998382C>T	uc021qss.1	+	20	6864	c.6221C>T	c.(6220-6222)gCg>gTg	p.A2074V	WNK1_uc001qio.4_Missense_Mutation_p.A1814V|WNK1_uc021qst.1_Missense_Mutation_p.A2066V|WNK1_uc001qip.4_Missense_Mutation_p.A1567V|WNK1_uc001qir.4_Missense_Mutation_p.A987V	NM_001184985	NP_001171914	Q9H4A3	WNK1_HUMAN	Homo sapiens WNK lysine deficient protein kinase 1 (WNK1), transcript variant 4, mRNA.	1814					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGACTTCTGCGGTTGGTGTA	0.368													T	998382	C	T	998382	3	4	149	1	0	0	0	0	1	0	0	0	17479	768	27	1	7025	1	WNK1	12	998382	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		998382	132853513	40	10009											
RERG	85004	broad.mit.edu	37	chr12	15262109	15262109	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcgtggtggagctgcgtcGcctcgtcttgccctgcacca	4	10	13	14	4	1	0	0	0	1	0	3	1	1	1	3	2	5	2	3	2	0	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:15262109G>A	uc001rcs.3	-	3	675	c.535C>T	c.(535-537)Cga>Tga	p.R179*	RERG_uc001rct.3_Nonsense_Mutation_p.R179*|RERG_uc010shu.2_Nonsense_Mutation_p.R160*	NM_032918	NP_116307	Q96A58	RERG_HUMAN	Homo sapiens RAS-like, estrogen-regulated, growth inhibitor (RERG), transcript variant 1, mRNA.	179					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity	p.R179*(2)|p.R178R(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GAGCTGCGTCGCCTCGTCTTG	0.532													A	15262109	G	A	15262109	4	1	149	1	0	0	0	0	0	1	0	0	13320	1095	38	1	68	1	RERG	12	15262109	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	14263727	15262109	118589786	41	10010											
AVPR1A	552	broad.mit.edu	37	chr12	63543857	63543857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcacccttgctctggcGcgacgccgtcttcccgcgga	3	9	11	18	6	3	0	0	0	3	0	4	2	4	1	3	2	2	2	3	2	0	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:63543857G>A	uc001sro.1	-	0	2734	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	254					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity	p.R254C(2)|p.S253*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TTGCTCTGGCGCGACGCCGTC	0.617													A	63543857	G	A	63543857	3	1	149	1	0	0	0	0	1	0	0	0	1236	1087	38	1	504	1	AVPR1A	12	63543857	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	48281748	63543857	70308038	42	10011											
SYT1	6857	broad.mit.edu	37	chr12	79693293	79693293	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattttggccatgtaactGaggaatggcgtgacctgcaa	10	11	13	7	1	0	2	0	2	0	0	0	4	0	4	2	4	2	2	2	4	3	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:79693293G>T	uc001sys.3	+	8	1443	c.772G>T	c.(772-774)Gag>Tag	p.E258*	SYT1_uc001syt.3_Nonsense_Mutation_p.E258*|SYT1_uc001syu.3_Nonsense_Mutation_p.E255*|SYT1_uc001syv.3_Nonsense_Mutation_p.E258*	NM_001135805	NP_005630	P21579	SYT1_HUMAN	Homo sapiens synaptotagmin I (SYT1), transcript variant 2, mRNA.	258	Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						CCATGTAACTGAGGAATGGCG	0.418													T	79693293	G	T	79693293	4	4	149	1	0	0	0	0	0	1	0	0	15562	1291	45	4	790	4	SYT1	12	79693293	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	16149436	79693293	54158602	43	10012											
KSR2	283455	broad.mit.edu	37	chr12	118198971	118198971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttcttcctcatgggCggcgtgcccggcggggtcac	2	12	14	13	4	4	0	2	0	2	0	5	0	5	0	2	5	1	1	2	5	0	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:118198971C>T	uc001two.2	-	3	799	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	277	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P248P(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCCTCATGGGCGGCGTGCCCG	0.701													T	118198971	C	T	118198971	2	4	149	1	0	0	0	0	0	0	0	1	8641	755	27	1		1	KSR2	12	118198971	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	38505678	118198971	15652924	44	10013											
ZNF268	10795	broad.mit.edu	37	chr12	133780200	133780200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaaaccctatagttgtaAtgaatgtggaaaagccttta	16	11	9	5	0	0	2	0	1	0	1	0	4	0	3	2	1	2	2	2	1	8	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr12:133780200A>G	uc010tch.2	+	5	2134	c.1928A>G	c.(1927-1929)aAt>aGt	p.N643S	ZNF268_uc010tbv.1_Missense_Mutation_p.N482S|ZNF268_uc010tbz.1_Missense_Mutation_p.N482S|ZNF268_uc010tcc.1_Missense_Mutation_p.N482S|ZNF268_uc010tcd.1_Missense_Mutation_p.N482S|ZNF268_uc010tbx.2_3'UTR|ZNF268_uc010tbw.2_3'UTR|ZNF268_uc010tce.2_3'UTR|ZNF268_uc010tcg.2_3'UTR|ZNF268_uc010tca.2_3'UTR|ZNF268_uc010tcf.2_Missense_Mutation_p.N643S|ZNF268_uc010tcb.2_3'UTR|ZNF268_uc021rgu.1_Missense_Mutation_p.N560S	NM_001165881	NP_001159354	Q14587	ZN268_HUMAN	Homo sapiens zinc finger protein 268 (ZNF268), transcript variant 2, mRNA.	643						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATAGTTGTAATGAATGTGGA	0.383													G	133780200	A	G	133780200	3	3	149	1	0	0	0	0	1	0	0	0	17908	101	4	3		3	ZNF268	12	133780200	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	15581229	133780200	71695	45	10014											
MTUS2	23281	broad.mit.edu	37	chr13	29675102	29675102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagagcagggccggccagCcacccgtaagtggggtgggg	7	3	19	12	2	0	1	0	0	0	1	0	1	0	1	5	6	2	2	5	6	1	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:29675102C>T	uc001usl.4	+	2	2727	c.2669C>T	c.(2668-2670)gCc>gTc	p.A890V		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	880	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.|Sufficient for interaction with KIF2C.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GGCCGGCCAGCCACCCGTAAG	0.582													T	29675102	C	T	29675102	3	4	149	1	0	0	0	0	1	0	0	0	10042	739	26	2	2679	2	MTUS2	13	29675102	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		29675102	85494776	46	10015											
PDS5B	23047	broad.mit.edu	37	chr13	33327545	33327545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccgtttacggcttccacttGagtatatggcaatctgtgcc	7	13	9	12	2	1	1	0	1	1	0	2	1	2	1	3	2	2	4	3	2	4	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:33327545G>C	uc010abf.3	+	24	2998	c.2812G>C	c.(2812-2814)Gag>Cag	p.E938Q	PDS5B_uc010abg.3_Non-coding_Transcript	NM_015032	NP_055847	Q9NTI5	PDS5B_HUMAN	Homo sapiens PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae) (PDS5B), mRNA.	938					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		GCTTCCACTTGAGTATATGGC	0.413													C	33327545	G	C	33327545	3	2	149	1	0	0	0	0	1	0	0	0	11768	1291	45	4	2906	4	PDS5B	13	33327545	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	3652443	33327545	81842333	47	10016											
GPR180	160897	broad.mit.edu	37	chr13	95275364	95275364	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtttttcttttgcagaGtgttttgctactttgggaac	6	21	9	5	0	1	1	0	0	1	1	1	2	1	2	0	1	4	4	0	1	3	10			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr13:95275364G>C	uc001vly.3	+	7	973	c.895_splice	c.e7-1	p.S299_splice	GPR180_uc001vlz.3_Splice_Site_p.S198_splice|GPR180_uc010afi.3_Splice_Site_p.S60_splice	NM_180989	NP_851320	Q86V85	GP180_HUMAN	Homo sapiens G protein-coupled receptor 180 (GPR180), mRNA.	299						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CTTTTGCAGAGTGTTTTGCTA	0.299													C	95275364	G	C	95275364	3	2	149	1	0	0	0	0	1	0	0	0	6730	1043	36	4	922	4	GPR180	13	95275364	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	61947819	95275364	19894514	48	10017											
GZMB	3002	broad.mit.edu	37	chr14	25101153	25101153	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtcagattcgcactttcGatcttcctgcactgtcatct	8	15	6	12	2	4	1	2	0	2	1	7	2	5	1	1	0	1	2	1	0	1	4			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:25101153G>A	uc001wps.2	-	3	577	c.511C>T	c.(511-513)Cga>Tga	p.R171*	GZMB_uc010ama.2_Nonsense_Mutation_p.R159*|GZMB_uc010amb.2_Non-coding_Transcript	NM_004131	NP_004122	P10144	GRAB_HUMAN	Homo sapiens granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) (GZMB), mRNA.	171	Peptidase S1.				activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity	p.R171*(2)|p.R205*(1)		endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		TCGCACTTTCGATCTTCCTGC	0.517													A	25101153	G	A	25101153	4	1	149	1	0	0	0	0	0	1	0	0	6971	1066	37	1	240	1	GZMB	14	25101153	Nonsense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		25101153	82248387	49	10018											
HEATR5A	25938	broad.mit.edu	37	chr14	31852819	31852835	+	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	GTGAAGACTTATGTCCA	-																															gaagccagtcactgcttcagGtgaagacttatgtccagtaa																										TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:31852819_31852835delGTGAAGACTTATGTCCA	uc001wrf.4	-	9	1673_1689	c.1488_1504delTGGACATAAGTCTTCAC	c.(1486-1506)actggacataagtcttcacctfs	p.T496fs	HEATR5A_uc010ami.3_Frame_Shift_Del_p.T101fs|HEATR5A_uc001wrg.1_Frame_Shift_Del_p.T85fs|HEATR5A_uc010tpk.1_Frame_Shift_Del_p.T496fs	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	490							binding	p.G491>?(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		ACTGCTTCAGGTGAAGACTTATGTCCAGTAAGCCGTT	0.461													-	31852835	GTGAAGACTTATGTCCA	-	31852819	7	5	149	1	0	1	0	1	0	0	0	0	7086	1261	44	0	4744	0	HEATR5A	14	31852819	Frame_Shift_Del	DEL	GTGAAGACTTATGTCCA	TCGA-16-0861-01A-01W-0424-08	6751666	31852819	75496721	50	10019											
NIN	51199	broad.mit.edu	37	chr14	51239167	51239167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatgaggttgtggtacgtCgtccactctcatcgaaagac	9	11	11	10	3	1	3	1	2	1	1	5	4	2	3	1	2	1	2	1	2	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:51239167C>T	uc001wyi.3	-	8	1024	c.833G>A	c.(832-834)cGa>cAa	p.R278Q	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.R278Q|NIN_uc001wyk.3_Missense_Mutation_p.R278Q|NIN_uc001wyo.3_Missense_Mutation_p.R278Q|NIN_uc001wyp.1_Missense_Mutation_p.R240Q	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	278					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					TGTGGTACGTCGTCCACTCTC	0.498			T	PDGFRB	MPD								T	51239167	C	T	51239167	3	4	149	1	0	0	0	0	1	0	0	0	10493	884	31	1	5808	1	NIN	14	51239167	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	19386348	51239167	56110373	51	10020											
SMEK1	55671	broad.mit.edu	37	chr14	91948148	91948148	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttttcgtggttgtgataaAgcaggatcatattctaaaca	12	15	9	5	1	2	1	1	1	1	0	3	2	2	2	0	2	2	3	0	2	5	7			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr14:91948148A>G	uc001xzn.3	-	3	1509	c.687T>C	c.(685-687)gcT>gcC	p.A229A	SMEK1_uc001xzm.3_Silent_p.A229A|SMEK1_uc001xzo.3_Silent_p.A229A|SMEK1_uc010atz.3_Intron|SMEK1_uc001xzp.1_Non-coding_Transcript|SMEK1_uc001xzq.1_Silent_p.A105A	NM_032560	NP_115949	Q6IN85	P4R3A_HUMAN	Homo sapiens SMEK homolog 1, suppressor of mek1 (Dictyostelium) (SMEK1), mRNA.	229						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTGTGATAAAGCAGGATCAT	0.353													G	91948148	A	G	91948148	2	3	149	1	0	0	0	0	0	0	0	1	14887	59	3	3		3	SMEK1	14	91948148	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08	40708981	91948148	15401392	52	10021											
C15orf2	23742	broad.mit.edu	37	chr15	24921847	24921847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcagcagaagttggctgCggaagtgctgaatgaagagc	11	7	16	7	1	0	4	0	2	0	2	0	5	0	5	0	2	5	6	0	2	4	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:24921847C>T	uc001ywo.3	+	0	1307	c.833C>T	c.(832-834)gCg>gTg	p.A278V		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	278					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		AAGTTGGCTGCGGAAGTGCTG	0.602													T	24921847	C	T	24921847	3	4	149	1	0	0	0	0	1	0	0	0	1797	768	27	1	835	1	C15orf2	15	24921847	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		24921847	77609545	53	10022											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109162	42109162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgatccatgtgctggatgCcgggcgggagtacagcctac	7	8	15	11	2	0	1	0	1	0	0	1	3	1	3	3	3	5	3	3	3	2	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:42109162C>T	uc001zok.4	+	14	1944	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	MAPKBP1_uc010bci.3_Missense_Mutation_p.A547V|MAPKBP1_uc010udb.2_Missense_Mutation_p.A386V|MAPKBP1_uc001zoj.4_Missense_Mutation_p.A547V|MAPKBP1_uc010bcj.3_Missense_Mutation_p.A54V|MAPKBP1_uc010bck.3_5'UTR|MAPKBP1_uc010bcl.3_Missense_Mutation_p.A54V	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	553										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GTGCTGGATGCCGGGCGGGAG	0.582													T	42109162	C	T	42109162	3	4	149	1	0	0	0	0	1	0	0	0	9367	739	26	2	1712	2	MAPKBP1	15	42109162	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	17187315	42109162	60422230	54	10023											
TLN2	83660	broad.mit.edu	37	chr15	63127965	63127965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgccaatgctgcagaCgacggacagtggtcacaggg	10	6	13	12	2	1	1	1	0	0	1	2	3	2	2	2	3	3	2	2	3	1	0	rs139730009		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:63127965C>T	uc002alb.4	+	52	7158	c.7158C>T	c.(7156-7158)gaC>gaT	p.D2386D	TLN2_uc002alc.4_Silent_p.D779D|TLN2_uc010uic.2_5'UTR|AK125516_uc002ale.1_5'Flank	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	2386	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	p.D2386D(2)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						ATGCTGCAGACGACGGACAGT	0.597													T	63127965	C	T	63127965	2	4	149	1	0	0	0	0	0	0	0	1	16048	535	19	1		1	TLN2	15	63127965	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	21018803	63127965	39403427	55	10024											
SV2B	9899	broad.mit.edu	37	chr15	91811770	91811770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttttggtgagcatgtgtaCggcgccacaatcaacttcac	9	13	9	10	2	2	1	2	1	0	0	2	1	2	1	1	2	3	2	1	2	3	5	rs140230861		TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr15:91811770C>T	uc002bqv.3	+	9	2199	c.1308C>T	c.(1306-1308)taC>taT	p.Y436Y	SV2B_uc002bqt.3_Silent_p.Y436Y|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Silent_p.Y285Y	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	436					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AGCATGTGTACGGCGCCACAA	0.418													T	91811770	C	T	91811770	2	4	149	1	0	0	0	0	0	0	0	1	15514	547	19	1		1	SV2B	15	91811770	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08	28683805	91811770	10719622	56	10025											
ATXN2L	11273	broad.mit.edu	37	chr16	28844550	28844550	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggataaggaggacaaaccAcccctggcaccatcaggagg	13	4	12	12	1	1	0	1	0	0	0	2	4	1	4	4	6	1	1	4	6	2	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:28844550A>T	uc002dqy.3	+	13	1997	c.1830A>T	c.(1828-1830)ccA>ccT	p.P610P	NPIPL1_uc010vct.2_Intron|ATXN2L_uc010byl.1_Silent_p.P586P|ATXN2L_uc002dqz.3_Silent_p.P610P|ATXN2L_uc002dra.3_Silent_p.P610P|ATXN2L_uc002drb.3_Silent_p.P610P|ATXN2L_uc002drc.3_Silent_p.P610P|ATXN2L_uc010vdb.2_Silent_p.P616P|ATXN2L_uc002dre.3_Silent_p.P610P|ATXN2L_uc002drf.3_Silent_p.P19P|ATXN2L_uc002drg.3_5'Flank	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	610						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGACAAACCACCCCTGGCAC	0.592													T	28844550	A	T	28844550	2	4	149	1	0	0	0	0	0	0	0	1	1217	146	6	5		5	ATXN2L	16	28844550	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08		28844550	61510203	57	10026											
CCDC135	84229	broad.mit.edu	37	chr16	57741548	57741548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaagcctgtggaaccacaaGaactactggatcaacatgca	16	6	9	10	0	1	1	1	0	0	1	1	4	1	3	2	2	6	1	2	2	6	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr16:57741548G>A	uc002emi.3	+	6	1124	c.1035G>A	c.(1033-1035)aaG>aaA	p.K345K	CCDC135_uc002emj.3_Silent_p.K345K|CCDC135_uc002emk.3_Silent_p.K280K	NM_032269	NP_115645	Q8IY82	CC135_HUMAN	Homo sapiens coiled-coil domain containing 135 (CCDC135), mRNA.	345						cytoplasm		p.K345T(1)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GGAACCACAAGAACTACTGGA	0.552													A	57741548	G	A	57741548	2	1	149	1	0	0	0	0	0	0	0	1	2795	933	33	2		2	CCDC135	16	57741548	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	28896998	57741548	32613205	58	10027											
GUCY2D	3000	broad.mit.edu	37	chr17	7909994	7909994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcagcacccggacctgaccCctcgtgctggttcgatccaa	8	8	9	16	3	1	1	1	1	0	0	4	3	2	2	5	2	2	3	5	2	1	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:7909994C>G	uc002gjt.2	+	3	1414	c.1340C>G	c.(1339-1341)cCc>cGc	p.P447R		NM_000180	NP_000171	Q02846	GUC2D_HUMAN	Homo sapiens guanylate cyclase 2D, membrane (retina-specific) (GUCY2D), mRNA.	447					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			skin(1)	1		Prostate(122;0.157)				GGACCTGACCCCTCGTGCTGG	0.612													G	7909994	C	G	7909994	3	3	149	1	0	0	0	0	1	0	0	0	6952	623	22	4	1350	4	GUCY2D	17	7909994	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08		7909994	73285216	59	10028											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400013	13400013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaccgggtcccgcaccAccacgatgagcttggtgtcc	6	8	12	15	3	1	1	1	1	0	0	3	2	3	1	5	3	1	2	5	3	0	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:13400013A>G	uc002gob.1	-	1	1520	c.722T>C	c.(721-723)gTg>gCg	p.V241A		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	241						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTCCCGCACCACCACGATGAG	0.632													G	13400013	A	G	13400013	3	3	149	1	0	0	0	0	1	0	0	0	7420	159	6	3	502	3	HS3ST3A1	17	13400013	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	5490019	13400013	67795197	60	10029											
MRC2	9902	broad.mit.edu	37	chr17	60757258	60757258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcgctggagcgacggcGtaggggtgagggggcctggg	4	6	24	7	4	0	1	0	1	0	0	0	3	0	2	1	8	1	3	1	8	1	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr17:60757258G>A	uc002jad.3	+	13	2695	c.2293G>A	c.(2293-2295)Gta>Ata	p.V765I	MRC2_uc010ddq.1_Non-coding_Transcript|MRC2_uc002jae.3_5'Flank|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	765	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GAGCGACGGCGTAGGGGTGAG	0.662													A	60757258	G	A	60757258	3	1	149	1	0	0	0	0	1	0	0	0	9834	1145	40	1	2347	1	MRC2	17	60757258	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	47357245	60757258	20437952	61	10030											
ARHGAP28	79822	broad.mit.edu	37	chr18	6894892	6894892	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctcggcaagacgaatggTaagaaaaataatttcttttc	15	11	7	8	2	1	2	0	0	1	2	3	3	1	2	1	2	0	2	1	2	6	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:6894892T>C	uc002knc.3	+	15	4960	c.1749_splice	c.e15+2	p.M583_splice	ARHGAP28_uc002kne.3_Splice_Site_p.M476_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.M458_splice|ARHGAP28_uc002knf.3_Splice_Site_p.M467_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	458					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				AGACGAATGGTAAGAAAAATA	0.383													C	6894892	T	C	6894892	5	2	149	1	0	0	0	0	0	0	1	0	880	1652	57	3	1480	3	ARHGAP28	18	6894892	Splice_Site	SNP	T	TCGA-16-0861-01A-01W-0424-08		6894892	71182356	62	10031											
CIDEA	1149	broad.mit.edu	37	chr18	12274219	12274219	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaggccaccatgtatgAgatgtactccgtgtcctacg	9	10	11	11	3	0	2	0	2	0	1	2	3	2	2	4	1	2	2	4	1	4	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:12274219A>T	uc002kqt.4	+	3	523	c.458A>T	c.(457-459)gAg>gTg	p.E153V	CIDEA_uc002kqu.4_Missense_Mutation_p.E187V|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	153					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						ACCATGTATGAGATGTACTCC	0.587													T	12274219	A	T	12274219	3	4	149	1	0	0	0	0	1	0	0	0	3455	304	11	5	616	5	CIDEA	18	12274219	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	5379327	12274219	65803029	63	10032											
DSC1	1823	broad.mit.edu	37	chr18	28736015	28736015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatgcacctgctgaacGtgttgtggaaatggacccaa	12	9	12	8	1	0	2	0	2	0	0	0	4	0	4	2	2	3	3	2	2	4	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:28736015G>A	uc002kwn.3	-	3	724	c.462C>T	c.(460-462)caC>caT	p.H154H	DSC1_uc002kwm.3_Silent_p.H154H	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	154	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCTGCTGAACGTGTTGTGGAA	0.403													A	28736015	G	A	28736015	2	1	149	1	0	0	0	0	0	0	0	1	4804	1136	40	1		1	DSC1	18	28736015	Silent	SNP	G	TCGA-16-0861-01A-01W-0424-08	16461796	28736015	49341233	64	10033											
DCC	1630	broad.mit.edu	37	chr18	50977004	50977004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtggctgtgatttgcAcccgacgctcttcagcccag	6	11	10	14	3	3	1	2	1	1	0	4	2	3	1	2	1	2	3	2	1	0	2			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr18:50977004A>C	uc002lfe.2	+	22	3980	c.3364A>C	c.(3364-3366)Acc>Ccc	p.T1122P	DCC_uc010dpf.2_Missense_Mutation_p.T757P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	1122					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.T1122T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTGATTTGCACCCGACGCTC	0.483													C	50977004	A	C	50977004	3	2	149	1	0	0	0	0	1	0	0	0	4316	159	6	5	3454	5	DCC	18	50977004	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	22240989	50977004	27100244	65	10034											
ZFR2	23217	broad.mit.edu	37	chr19	3825268	3825268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgggtctcttggccagCgctggcctgctcgaggcaca	5	7	14	15	3	1	0	0	0	1	0	3	1	1	0	3	4	2	3	3	4	0	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:3825268C>T	uc002lyw.2	-	6	1185	c.1173G>A	c.(1171-1173)gcG>gcA	p.A391A	ZFR2_uc010xhx.1_Intron	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	391						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCTTGGCCAGCGCTGGCCTGC	0.672													T	3825268	C	T	3825268	2	4	149	1	0	0	0	0	0	0	0	1	17761	755	27	1		1	ZFR2	19	3825268	Silent	SNP	C	TCGA-16-0861-01A-01W-0424-08		3825268	55303715	66	10035											
INSR	3643	broad.mit.edu	37	chr19	7184472	7184472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagttcacacagcgccagtCctggaagtggtagtacgggg	10	7	15	9	2	1	0	1	0	0	0	2	2	2	1	2	4	2	3	2	4	4	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:7184472C>T	uc002mgd.1	-	2	938	c.829G>A	c.(829-831)Gac>Aac	p.D277N	INSR_uc002mge.1_Missense_Mutation_p.D277N|INSR_uc002mgf.3_Missense_Mutation_p.D277N	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	277	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CAGCGCCAGTCCTGGAAGTGG	0.602													T	7184472	C	T	7184472	3	4	149	1	0	0	0	0	1	0	0	0	7831	855	30	2	3399	2	INSR	19	7184472	Missense_Mutation	SNP	C	TCGA-16-0861-01A-01W-0424-08	3359204	7184472	51944511	67	10036											
RAB11B	9230	broad.mit.edu	37	chr19	8468383	8468383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacgtggtggacatcagcGtgccgcccaccacggacgga	10	4	13	14	5	1	0	1	0	0	0	1	3	1	3	3	4	3	0	3	4	1	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:8468383G>A	uc002mju.4	+	4	694	c.598G>A	c.(598-600)Gtg>Atg	p.V200M	RAB11B_uc021uof.1_Non-coding_Transcript	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	200					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						GGACATCAGCGTGCCGCCCAC	0.647													A	8468383	G	A	8468383	3	1	149	1	0	0	0	0	1	0	0	0	12980	1145	40	1	616	1	RAB11B	19	8468383	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	1283911	8468383	50660600	68	10037											
ZNF527	84503	broad.mit.edu	37	chr19	37879435	37879435	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatctctactgggaaaagaGacaatgaatttagtaattct	17	12	7	5	0	2	2	0	1	2	1	3	4	2	3	0	1	1	1	0	1	8	5			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr19:37879435G>C	uc010efk.1	+	4	595	c.484G>C	c.(484-486)Gac>Cac	p.D162H	ZNF527_uc002ogf.3_Missense_Mutation_p.D130H|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGGGAAAAGAGACAATGAATT	0.378													C	37879435	G	C	37879435	3	2	149	1	0	0	0	0	1	0	0	0	18069	942	33	4	498	4	ZNF527	19	37879435	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08	29411052	37879435	21249548	69	10038											
GSS	2937	broad.mit.edu	37	chr20	33516696	33516696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccatctgcatgctcgaTggctttggttcgaagtagat	9	12	10	10	2	1	1	0	0	1	1	3	3	1	1	2	2	2	5	2	2	2	3			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr20:33516696T>A	uc002xbg.3	-	12	1440	c.1360A>T	c.(1360-1362)Atc>Ttc	p.I454F	GSS_uc010zun.2_Missense_Mutation_p.I326F|GSS_uc010zuo.2_Missense_Mutation_p.I343F|GSS_uc010zup.2_Missense_Mutation_p.I385F	NM_000178	NP_000169	P48637	GSHB_HUMAN	Homo sapiens glutathione synthetase (GSS), mRNA.	454					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GCATGCTCGATGGCTTTGGTT	0.562													A	33516696	T	A	33516696	3	1	149	1	0	0	0	0	1	0	0	0	6884	1464	51	5	68	5	GSS	20	33516696	Missense_Mutation	SNP	T	TCGA-16-0861-01A-01W-0424-08		33516696	29508824	70	10039											
MED15	51586	broad.mit.edu	37	chr22	20939408	20939408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagtggtgtgcacccGgaagcgcaggcttgaggatg	7	6	17	11	2	0	1	0	1	0	0	0	3	0	3	3	5	2	3	3	5	1	1			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:20939408G>A	uc002zsp.3	+	15	2065	c.1985G>A	c.(1984-1986)cGg>cAg	p.R662Q	MED15_uc002zsq.3_Missense_Mutation_p.R622Q|MED15_uc010gso.3_Missense_Mutation_p.R605Q|MED15_uc002zsr.3_Missense_Mutation_p.R596Q|MED15_uc011ahs.2_Missense_Mutation_p.R596Q|MED15_uc002zss.3_Missense_Mutation_p.R541Q|MED15_uc011ahu.2_Missense_Mutation_p.R372Q|MED15_uc002zst.3_Missense_Mutation_p.R278Q|MED15_uc002zsu.3_Missense_Mutation_p.R267Q	NM_001003891	NP_001003891	Q96RN5	MED15_HUMAN	Homo sapiens mediator complex subunit 15 (MED15), transcript variant 1, mRNA.	662					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			GTGTGCACCCGGAAGCGCAGG	0.682													A	20939408	G	A	20939408	3	1	149	1	0	0	0	0	1	0	0	0	9508	1116	39	1	2047	1	MED15	22	20939408	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		20939408	30365158	71	10040											
NCAPH2	29781	broad.mit.edu	37	chr22	50956414	50956414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcaggaggtcctcatcAtccccctcctgcccatggcc	6	8	8	19	0	2	0	2	0	0	0	5	1	5	1	7	3	2	1	7	3	0	0			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chr22:50956414A>G	uc003blx.4	+	5	555	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	NCAPH2_uc003blq.4_Missense_Mutation_p.I145V|NCAPH2_uc003blv.3_Missense_Mutation_p.I145V|NCAPH2_uc003blr.4_Missense_Mutation_p.I145V	NM_001185011	NP_001171940	Q6IBW4	CNDH2_HUMAN	Homo sapiens non-SMC condensin II complex, subunit H2 (NCAPH2), transcript variant 3, mRNA.	145					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		GGTCCTCATCATCCCCCTCCT	0.612													G	50956414	A	G	50956414	3	3	149	1	0	0	0	0	1	0	0	0	10286	217	8	3	455	3	NCAPH2	22	50956414	Missense_Mutation	SNP	A	TCGA-16-0861-01A-01W-0424-08	30017006	50956414	348152	72	10041											
F9	2158	broad.mit.edu	37	chrX	138643014	138643014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaattacagttgtcgcaGgtaaatacacagaaagaata	19	10	7	5	1	0	2	0	0	0	2	1	2	0	2	0	1	2	3	0	1	9	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138643014G>A	uc004fas.1	+	7	867	c.838_splice	c.e7+1	p.G280_splice	F9_uc004fat.1_Splice_Site_p.G242_splice	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	280	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGTTGTCGCAGGTAAATACAC	0.343													A	138643014	G	A	138643014	3	1	149	1	0	0	0	0	1	0	0	0	5396	1014	35	2	864	2	F9	23	138643014	Missense_Mutation	SNP	G	TCGA-16-0861-01A-01W-0424-08		138643014	16627546	73	10042											
ATP11C	286410	broad.mit.edu	37	chrX	138864837	138864837	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgttaattctttcataAtcatctggagcaatttcttt	9	20	5	7	0	6	0	2	0	4	0	6	1	6	1	0	1	1	2	0	1	3	6			TCGA-16-0861-01A-01W-0424-08	TCGA-16-0861-10A-01W-0424-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	deab6efd-8213-4f35-a897-060c605ce58b	882b9e64-c667-4e1a-ad98-67efd518b42b	g.chrX:138864837A>G	uc004faz.3	-	17	1929	c.1830T>C	c.(1828-1830)gaT>gaC	p.D610D	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Silent_p.D610D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	610					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTCTTTCATAATCATCTGGAG	0.353													G	138864837	A	G	138864837	2	3	149	1	0	0	0	0	0	0	0	1	1126	98	4	3		3	ATP11C	23	138864837	Silent	SNP	A	TCGA-16-0861-01A-01W-0424-08	221823	138864837	16405723	74	10043											
DMBX1	127343	broad.mit.edu	37	chr1	46972778	46972778	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcagcccagcaggcccaGcatgcccccgactaccggcc	8	2	11	20	2	0	0	0	0	0	0	0	1	0	0	6	3	5	3	6	3	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:46972778G>A	uc001cpx.3	+	0	111	c.96G>A	c.(94-96)caG>caA	p.Q32Q	DMBX1_uc001cpw.3_Silent_p.Q32Q	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	32	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCAGGCCCAGCATGCCCCCG	0.642													A	46972778	G	A	46972778	2	1	150	1	0	0	0	0	0	0	0	1	4617	962	34	2		2	DMBX1	1	46972778	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		46972778	202277843	1	10044											
ZCCHC11	23318	broad.mit.edu	37	chr1	52981638	52981638	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcctctgctcaggtgtCaatgcagattcatctatcac	9	11	7	14	0	6	1	4	0	2	1	6	1	6	1	2	1	3	2	2	1	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:52981638C>G	uc001cty.2	-	2	1060	c.807G>C	c.(805-807)ttG>ttC	p.L269F	ZCCHC11_uc001ctx.2_Missense_Mutation_p.L269F|ZCCHC11_uc009vze.1_Missense_Mutation_p.L269F|ZCCHC11_uc009vzf.1_Missense_Mutation_p.L28F|ZCCHC11_uc001cub.3_Missense_Mutation_p.L269F|ZCCHC11_uc001cuc.2_Non-coding_Transcript|ZCCHC11_uc001cud.3_Missense_Mutation_p.L269F	NM_001009881	NP_001009881	Q5TAX3	TUT4_HUMAN	Homo sapiens zinc finger, CCHC domain containing 11 (ZCCHC11), transcript variant 1, mRNA.	269					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GCTCAGGTGTCAATGCAGATT	0.343													G	52981638	C	G	52981638	3	3	150	1	0	0	0	0	1	0	0	0	17681	825	29	4	4242	4	ZCCHC11	1	52981638	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	6008860	52981638	196268983	2	10045											
LRRC7	57554	broad.mit.edu	37	chr1	70477511	70477511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagaatttgactgtagcTgtaatgaactggagtcacta	14	12	10	5	0	1	4	1	2	0	2	1	5	1	5	0	1	2	3	0	1	7	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:70477511T>C	uc001dep.3	+	9	952	c.922T>C	c.(922-924)Tgt>Cgt	p.C308R	LRRC7_uc009wbg.3_5'UTR	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	308						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGACTGTAGCTGTAATGAACT	0.328													C	70477511	T	C	70477511	3	2	150	1	0	0	0	0	1	0	0	0	9090	1580	55	3	960	3	LRRC7	1	70477511	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	17495873	70477511	178773110	3	10046											
FAM46C	54855	broad.mit.edu	37	chr1	118166577	118166577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccagccggccccttacGtcagtgatggcaacttcagc	9	8	9	15	2	2	1	2	1	0	0	2	1	2	1	4	2	5	1	4	2	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:118166577G>A	uc021osq.1	+	0	1087	c.1087G>A	c.(1087-1089)Gtc>Atc	p.V363I	FAM46C_uc001ehe.3_Missense_Mutation_p.V363I	NM_017709	NP_060179	Q5VWP2	FA46C_HUMAN	Homo sapiens family with sequence similarity 46, member C (FAM46C), mRNA.	363										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGCCCCTTACGTCAGTGATGG	0.557			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			A	118166577	G	A	118166577	3	1	150	1	0	0	0	0	1	0	0	0	5618	1145	40	1	1089	1	FAM46C	1	118166577	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	47689066	118166577	131084044	4	10047											
RGS4	5999	broad.mit.edu	37	chr1	163044147	163044147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagggaagagacaagcCggaacatgctagagcctaca	15	3	12	11	1	0	2	0	0	0	2	0	5	0	4	3	2	5	2	3	2	5	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:163044147C>T	uc001gcl.4	+	5	1035	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	RGS4_uc009wuy.3_Missense_Mutation_p.R139W|RGS4_uc009wuz.3_Missense_Mutation_p.P83L|RGS4_uc009wva.3_Missense_Mutation_p.R121W	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	139					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						AGAGACAAGCCGGAACATGCT	0.507													T	163044147	C	T	163044147	3	4	150	1	0	0	0	0	1	0	0	0	13396	652	23	1	728	1	RGS4	1	163044147	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	44877570	163044147	86206474	5	10048											
C1orf112	55732	broad.mit.edu	37	chr1	169811564	169811564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctgtccttcagaacacaGtactgtctgctttgcttgca	7	16	7	11	0	3	1	1	0	2	1	4	1	4	1	1	0	5	4	1	0	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:169811564G>A	uc001ggq.3	+	17	2432	c.1732G>A	c.(1732-1734)Gta>Ata	p.V578I	C1orf112_uc001ggj.3_Non-coding_Transcript|C1orf112_uc001ggp.3_Missense_Mutation_p.V578I|C1orf112_uc009wvt.3_Missense_Mutation_p.V255I|C1orf112_uc009wvu.1_Missense_Mutation_p.V454I|C1orf112_uc001ggr.3_Missense_Mutation_p.V443I|C1orf112_uc010plv.2_Missense_Mutation_p.V520I	NM_018186	NP_060656	Q9NSG2	CA112_HUMAN	Homo sapiens chromosome 1 open reading frame 112 (C1orf112), mRNA.	578										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCAGAACACAGTACTGTCTGC	0.403													A	169811564	G	A	169811564	3	1	150	1	0	0	0	0	1	0	0	0	2005	1029	36	2	1794	2	C1orf112	1	169811564	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	6767417	169811564	79439057	6	10049											
CEP350	9857	broad.mit.edu	37	chr1	180063490	180063490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaacaacaactggaaaaAatcagcttactgacagacag	20	6	6	9	0	2	2	2	1	0	1	2	3	2	3	0	1	5	1	0	1	8	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:180063490A>G	uc001gnt.3	+	33	8633	c.8250A>G	c.(8248-8250)aaA>aaG	p.K2750K	CEP350_uc009wxl.2_Silent_p.K2749K|CEP350_uc001gnv.3_Silent_p.K885K|CEP350_uc001gnw.1_Silent_p.K507K|CEP350_uc001gnx.1_Silent_p.K507K	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2750						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACTGGAAAAAATCAGCTTAC	0.358													G	180063490	A	G	180063490	2	3	150	1	0	0	0	0	0	0	0	1	3284	11	1	3		3	CEP350	1	180063490	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	10251926	180063490	69187131	7	10050											
CACNA1E	777	broad.mit.edu	37	chr1	181479699	181479699	+	Frame_Shift_Del	DEL	C	C	-																															tcttcctgaggatgacaagaCccccatgtcccgaagactgg																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:181479699delC	uc009wxt.3	+	1	548	c.353delC	c.(352-354)accfs	p.T118fs	CACNA1E_uc001gow.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxs.3_Frame_Shift_Del_p.T118fs|CACNA1E_uc009wxr.3_Frame_Shift_Del_p.T25fs	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	118					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGACAAGACCCCCATGTCC	0.527													-	181479699	C	-	181479699	7	5	150	1	0	1	0	1	0	0	0	0	2568	507	18	0	359	0	CACNA1E	1	181479699	Frame_Shift_Del	DEL	C	TCGA-16-1045-01B-01W-0611-08	1416209	181479699	67770922	8	10051											
TPR	7175	broad.mit.edu	37	chr1	186329081	186329081	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaattcttttgttctctagTttctccaaaagcaactgatc	10	18	4	9	0	3	1	0	1	3	0	6	1	3	1	1	0	2	3	1	0	5	7			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:186329081T>C	uc001grv.3	-	11	1536	c.1239A>G	c.(1237-1239)aaA>aaG	p.K413K	MIR548F1_uc021pgf.1_Intron|TPR_uc010pop.2_Silent_p.K489K	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	413					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGTTCTCTAGTTTCTCCAAAA	0.363			T	NTRK1	papillary thyroid								C	186329081	T	C	186329081	2	2	150	1	0	0	0	0	0	0	0	1	16517	1722	60	3		3	TPR	1	186329081	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	4849382	186329081	62921540	9	10052											
PTPRC	5788	broad.mit.edu	37	chr1	198608459	198608459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctttctggacacagaaGtatttgtgacaggtaagtac	11	13	10	7	0	1	2	0	1	1	1	1	3	1	3	1	2	2	3	1	2	4	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:198608459G>T	uc001gur.1	+	1	235	c.55G>T	c.(55-57)Gta>Tta	p.V19L	PTPRC_uc001gut.1_Missense_Mutation_p.V19L|PTPRC_uc001guq.3_Missense_Mutation_p.V19L|PTPRC_uc009wze.1_Missense_Mutation_p.V21L|PTPRC_uc009wzf.1_Missense_Mutation_p.V21L|PTPRC_uc021pgy.1_Missense_Mutation_p.V21L|PTPRC_uc010ppg.1_Missense_Mutation_p.V21L|PTPRC_uc001guu.1_Missense_Mutation_p.V21L|PTPRC_uc001guv.1_Non-coding_Transcript|PTPRC_uc001guw.1_Non-coding_Transcript	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	19					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GGACACAGAAGTATTTGTGAC	0.338													T	198608459	G	T	198608459	3	4	150	1	0	0	0	0	1	0	0	0	12885	1029	36	4	57	4	PTPRC	1	198608459	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	12279378	198608459	50642162	10	10053											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220325030	220325030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtctgggtgtggagaagcGcatgagccagcctttgcccc	6	10	14	11	1	1	2	0	1	1	1	1	3	1	2	4	2	4	1	4	2	1	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:220325030G>A	uc010puk.1	-	33	4108	c.3944C>T	c.(3943-3945)gCg>gTg	p.A1315V	RAB3GAP2_uc021pjf.1_Missense_Mutation_p.A1315V|RAB3GAP2_uc001hmf.2_Non-coding_Transcript|RAB3GAP2_uc001hmg.2_Missense_Mutation_p.A895V	NM_012414	NP_036546	Q9H2M9	RBGPR_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 2 (non-catalytic) (RAB3GAP2), mRNA.	1315					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		GTGGAGAAGCGCATGAGCCAG	0.507													A	220325030	G	A	220325030	3	1	150	1	0	0	0	0	1	0	0	0	13024	1087	38	1	245	1	RAB3GAP2	1	220325030	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	21716571	220325030	28925591	11	10054											
ZP4	57829	broad.mit.edu	37	chr1	238053168	238053168	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagagcttccagcctttaccTagaagatccataggacactt	12	10	8	11	0	0	3	0	0	0	3	2	5	2	4	4	1	3	1	4	1	4	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr1:238053168T>A	uc001hym.3	-	3	687	c.400_splice	c.e3+1	p.A134_splice	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	134					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AGCCTTTACCTAGAAGATCCA	0.547													A	238053168	T	A	238053168	2	1	150	1	0	0	0	0	0	0	0	1	18317	1536	53	5		5	ZP4	1	238053168	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	17728138	238053168	11197453	12	10055											
LOXL3	84695	broad.mit.edu	37	chr2	74761513	74761513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaccttggtgccatttggGgtgaggatatcatagtgagt	8	12	14	7	0	1	2	1	2	0	0	1	3	1	3	3	4	1	0	3	4	2	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:74761513G>A	uc002smp.1	-	10	1941	c.1869C>T	c.(1867-1869)acC>acT	p.T623T	LOXL3_uc002smo.1_Silent_p.T262T|LOXL3_uc010ffm.1_Silent_p.T567T|LOXL3_uc002smq.1_Silent_p.T478T|LOXL3_uc010ffn.1_Silent_p.T478T	NM_032603	NP_115992	P58215	LOXL3_HUMAN	Homo sapiens lysyl oxidase-like 3 (LOXL3), mRNA.	623	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein-lysine 6-oxidase activity|scavenger receptor activity			endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						TGCCATTTGGGGTGAGGATAT	0.527													A	74761513	G	A	74761513	2	1	150	1	0	0	0	0	0	0	0	1	8971	1219	43	2		2	LOXL3	2	74761513	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		74761513	168437860	13	10056											
CTNNA2	1496	broad.mit.edu	37	chr2	80801323	80801323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacaagtagaggttgccAttgaagccctgagtgccaac	12	8	11	10	0	0	4	0	3	0	1	0	4	0	4	3	1	5	2	3	1	5	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:80801323A>T	uc010ysh.2	+	11	1782	c.1777A>T	c.(1777-1779)Att>Ttt	p.I593F	CTNNA2_uc010yse.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysf.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysg.2_Missense_Mutation_p.I593F|CTNNA2_uc010ysi.2_Missense_Mutation_p.I225F	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	593					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AGAGGTTGCCATTGAAGCCCT	0.483													T	80801323	A	T	80801323	3	4	150	1	0	0	0	0	1	0	0	0	4046	217	8	5	1615	5	CTNNA2	2	80801323	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	6039810	80801323	162398050	14	10057											
POTEF	728378	broad.mit.edu	37	chr2	130877801	130877801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaccacttgcccatcttGttcctgagtgtcttcatagc	7	13	7	14	0	3	1	1	1	2	0	4	1	4	1	3	0	3	2	3	0	1	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:130877801G>T	uc010fmh.2	-	2	688	c.288C>A	c.(286-288)aaC>aaA	p.N96K		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	96						cell cortex	ATP binding	p.N96N(3)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGCCCATCTTGTTCCTGAGTG	0.612													T	130877801	G	T	130877801	3	4	150	1	0	0	0	0	1	0	0	0	12342	1368	48	4	2999	4	POTEF	2	130877801	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	50076478	130877801	112321572	15	10058											
POTEE	445582	broad.mit.edu	37	chr2	131976263	131976263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctatgaagacactcaggaaCaagatggggaagtggtgctg	13	7	15	6	0	1	3	1	1	0	2	1	5	1	5	0	4	2	2	0	4	5	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:131976263C>A	uc002tsn.2	+	0	340	c.288C>A	c.(286-288)aaC>aaA	p.N96K	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	96							ATP binding										CACTCAGGAACAAGATGGGGA	0.617													A	131976263	C	A	131976263	3	1	150	1	0	0	0	0	1	0	0	0	12341	477	17	4	290	4	POTEE	2	131976263	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1098462	131976263	111223110	16	10059											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135893152	135893155	+	Frame_Shift_Del	DEL	GAAA	GAAA	-																															agatgttaaattgttgtattGaaagaaagaaggcacgtgat																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:135893152_135893155delGAAA	uc010fnf.3	+	16	1616_1619	c.1573_1576delGAAA	c.(1573-1578)gaaagafs	p.E525fs	RAB3GAP1_uc002tuj.3_Frame_Shift_Del_p.E525fs|RAB3GAP1_uc010fng.3_Frame_Shift_Del_p.E350fs|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	525						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTGTTGTATTGAAAGAAAGAAGGC	0.333													-	135893155	GAAA	-	135893152	7	5	150	1	0	1	0	1	0	0	0	0	13023	1291	45	0	1639	0	RAB3GAP1	2	135893152	Frame_Shift_Del	DEL	GAAA	TCGA-16-1045-01B-01W-0611-08	3916889	135893152	107306221	17	10060											
TTN	7273	broad.mit.edu	37	chr2	179500424	179500424	+	Frame_Shift_Del	DEL	A	A	-																															ggtctcgtataggtttcaccAgccaatctctaatgacttct																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:179500424delA	uc021vsy.1	-	175	34148	c.33923delT	c.(33922-33924)ctgfs	p.L11308fs	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Frame_Shift_Del_p.L5003fs|TTN_uc021vta.1_Frame_Shift_Del_p.L4936fs|TTN_uc021vtb.1_Frame_Shift_Del_p.L4811fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12235	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTTTCACCAGCCAATCTCT	0.353													-	179500424	A	-	179500424	7	5	150	1	0	1	0	1	0	0	0	0	16837	188	7	0	66610	0	TTN	2	179500424	Frame_Shift_Del	DEL	A	TCGA-16-1045-01B-01W-0611-08	43607272	179500424	63698949	18	10061											
KLF7	8609	broad.mit.edu	37	chr2	207988812	207988812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggctgagctcaggggacGatgggggcgttaatgaggtc	7	7	20	7	3	1	2	1	2	0	0	2	4	1	3	0	7	1	3	0	7	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:207988812G>A	uc002vbz.1	-	1	741	c.419C>T	c.(418-420)tCg>tTg	p.S140L	KLF7_uc002vca.1_Missense_Mutation_p.S140L|KLF7_uc010zix.1_Missense_Mutation_p.S112L	NM_003709	NP_003700	O75840	KLF7_HUMAN	Homo sapiens Kruppel-like factor 7 (ubiquitous) (KLF7), mRNA.	140					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTCAGGGGACGATGGGGGCGT	0.597													A	207988812	G	A	207988812	3	1	150	1	0	0	0	0	1	0	0	0	8409	1059	37	1	501	1	KLF7	2	207988812	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	28488388	207988812	35210561	19	10062											
DOCK10	55619	broad.mit.edu	37	chr2	225666723	225666723	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagtttgtgatctgtgctGcttatggccttcatgactgg	7	16	11	7	0	2	2	1	2	1	0	2	2	2	2	1	2	2	3	1	2	3	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:225666723G>A	uc010fwz.1	-	39	4542	c.4303C>T	c.(4303-4305)Cag>Tag	p.Q1435*	DOCK10_uc002vob.2_Nonsense_Mutation_p.Q1429*|DOCK10_uc002voa.2_Nonsense_Mutation_p.Q91*|DOCK10_uc002voc.2_Nonsense_Mutation_p.Q289*	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1435							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GATCTGTGCTGCTTATGGCCT	0.378													A	225666723	G	A	225666723	4	1	150	1	0	0	0	0	0	1	0	0	4724	1328	46	2	2325	2	DOCK10	2	225666723	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	17677911	225666723	17532650	20	10063											
CAPN10	11132	broad.mit.edu	37	chr2	241556394	241556394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaactctaccaacagcCacctgggggagctggaagtg	13	6	12	10	0	1	1	0	1	1	0	1	3	1	3	3	3	5	1	3	3	5	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr2:241556394C>T	uc002vzq.2	+	4	594	c.398_splice	c.e4-1	p.A133_splice	GPR35_uc010fzi.2_Intron|GPR35_uc010fzh.2_Intron			Q9HC96	CAN10_HUMAN	Homo sapiens calpain 10 (CAPN10), transcript variant 3, mRNA.	0	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		taccaacagccacctggggga	0.537													T	241556394	C	T	241556394	2	4	150	1	0	0	0	0	0	0	0	1	2649	608	21	2		2	CAPN10	2	241556394	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	15889671	241556394	1642979	21	10064											
IL5RA	3568	broad.mit.edu	37	chr3	3139898	3139898	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagggaaacttggtaTgaccttaaacgtgaataatt	15	11	10	5	1	0	3	0	3	0	0	0	4	0	4	1	2	2	1	1	2	7	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:3139898T>C	uc011ask.2	-	6	1088	c.444A>G	c.(442-444)tcA>tcG	p.S148S	IL5RA_uc010hbq.3_Silent_p.S148S|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.S148S|IL5RA_uc011asl.2_Silent_p.S148S|IL5RA_uc011asm.1_Silent_p.S148S|IL5RA_uc010hbt.2_Silent_p.S148S|IL5RA_uc011asn.1_Silent_p.S148S|IL5RA_uc010hbu.2_Silent_p.S148S	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	148					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AAACTTGGTATGACCTTAAAC	0.413													C	3139898	T	C	3139898	2	2	150	1	0	0	0	0	0	0	0	1	7758	1451	51	3		3	IL5RA	3	3139898	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08		3139898	194882532	22	10065											
GADL1	339896	broad.mit.edu	37	chr3	30885739	30885739	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttgcttctccagttccTcaggtatcattttacctcta	8	16	5	12	0	4	1	2	0	2	1	6	1	5	1	3	1	2	3	3	1	3	7			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:30885739T>A	uc003cep.2	-	7	796	c.749A>T	c.(748-750)gAg>gTg	p.E250V	GADL1_uc003ceq.1_Missense_Mutation_p.E250V	NM_207359	NP_997242	Q6ZQY3	GADL1_HUMAN	Homo sapiens glutamate decarboxylase-like 1 (GADL1), mRNA.	250					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	CTCCAGTTCCTCAGGTATCAT	0.438													A	30885739	T	A	30885739	3	1	150	1	0	0	0	0	1	0	0	0	6237	1551	54	5	848	5	GADL1	3	30885739	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	27745841	30885739	167136691	23	10066											
FLNB	2317	broad.mit.edu	37	chr3	58135696	58135696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctggggtttatatcGtctccaccaaattcgctgac	7	12	9	13	3	1	1	0	1	1	0	4	1	1	1	4	2	1	2	4	2	3	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:58135696G>A	uc003djj.2	+	36	6376	c.6211G>A	c.(6211-6213)Gtc>Atc	p.V2071I	FLNB_uc010hne.2_Missense_Mutation_p.V2102I|FLNB_uc003djk.2_Missense_Mutation_p.V2060I|FLNB_uc010hnf.2_Missense_Mutation_p.V2047I|FLNB_uc003djl.2_Missense_Mutation_p.V1891I|FLNB_uc003djm.2_Missense_Mutation_p.V1878I|FLNB_uc010hng.1_Non-coding_Transcript	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2071	Interaction with FLNA 1.|Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGTTTATATCGTCTCCACCAA	0.562													A	58135696	G	A	58135696	3	1	150	1	0	0	0	0	1	0	0	0	5983	1145	40	1	6454	1	FLNB	3	58135696	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	27249957	58135696	139886734	24	10067											
PHLDB2	90102	broad.mit.edu	37	chr3	111632476	111632476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actactcagtgacctcacccGgactcctccaccaccatcct	9	8	4	20	1	2	1	2	1	0	0	5	2	5	2	7	1	1	0	7	1	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:111632476G>A	uc010hqa.3	+	2	2057	c.1646G>A	c.(1645-1647)cGg>cAg	p.R549Q	PHLDB2_uc003dyc.3_Missense_Mutation_p.R576Q|PHLDB2_uc003dyd.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyg.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyh.3_Missense_Mutation_p.R549Q|PHLDB2_uc003dyi.3_Missense_Mutation_p.R135Q|PHLDB2_uc003dyf.4_Missense_Mutation_p.R549Q	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	549						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GACCTCACCCGGACTCCTCCA	0.522													A	111632476	G	A	111632476	3	1	150	1	0	0	0	0	1	0	0	0	11929	1116	39	1	1737	1	PHLDB2	3	111632476	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	53496780	111632476	86389954	25	10068											
PCCB	5096	broad.mit.edu	37	chr3	135980854	135980854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgaatgactctgggggaGcacggatccaagaaggagtg	11	6	17	7	1	1	3	0	2	1	1	2	6	2	6	1	5	1	2	1	5	3	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:135980854G>A	uc011bmc.2	+	5	601	c.550G>A	c.(550-552)Gca>Aca	p.A184T	PCCB_uc003eqz.1_Missense_Mutation_p.A164T|PCCB_uc003eqy.2_Missense_Mutation_p.A164T|PCCB_uc011bmd.1_Missense_Mutation_p.A81T	NM_001178014	NP_001171485	P05166	PCCB_HUMAN	Homo sapiens propionyl CoA carboxylase, beta polypeptide (PCCB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	164	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	CTCTGGGGGAGCACGGATCCA	0.458													A	135980854	G	A	135980854	3	1	150	1	0	0	0	0	1	0	0	0	11581	971	34	2	572	2	PCCB	3	135980854	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	24348378	135980854	62041576	26	10069											
MECOM	2122	broad.mit.edu	37	chr3	168845829	168845829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctggtcacagtcttcGcagcgatattgccgttcttc	8	12	10	11	3	3	1	1	0	2	1	5	2	3	1	1	1	3	3	1	1	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:168845829G>A	uc011bpj.1	-	4	1036	c.633C>T	c.(631-633)tgC>tgT	p.C211C	MECOM_uc010hwk.1_Silent_p.C46C|MECOM_uc003ffj.3_Silent_p.C87C|MECOM_uc003ffi.3_Silent_p.C23C|MECOM_uc011bpi.1_Silent_p.C23C|MECOM_uc003ffn.3_Silent_p.C23C|MECOM_uc003ffk.2_Silent_p.C23C|MECOM_uc003ffl.2_Silent_p.C183C|MECOM_uc011bpk.1_Silent_p.C23C|MECOM_uc010hwn.2_Silent_p.C211C|MECOM_uc003ffm.1_Silent_p.C87C	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity	p.C23*(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CACAGTCTTCGCAGCGATATT	0.433													A	168845829	G	A	168845829	2	1	150	1	0	0	0	0	0	0	0	1	9497	1079	38	1		1	MECOM	3	168845829	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	32864975	168845829	29176601	27	10070											
MUC4	4585	broad.mit.edu	37	chr3	195498599	195498599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagggccacagggtccCggcctgtgaagcctgttggg	6	6	15	14	1	0	1	0	1	0	0	1	1	1	1	6	4	1	1	6	4	1	1	rs145772547		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr3:195498599C>T	uc021xjp.1	-	4	13322	c.13166G>A	c.(13165-13167)cGg>cAg	p.R4389Q	MUC4_uc003fuz.3_Missense_Mutation_p.G69R|MUC4_uc003fva.3_5'UTR|MUC4_uc003fvb.3_5'UTR|MUC4_uc003fvc.3_Non-coding_Transcript|MUC4_uc003fvd.3_Non-coding_Transcript|MUC4_uc003fve.3_5'UTR|MUC4_uc010hzr.3_Non-coding_Transcript|MUC4_uc021xjm.1_5'UTR|MUC4_uc021xjn.1_Missense_Mutation_p.R130Q|MUC4_uc021xjo.1_5'UTR|MUC4_uc021xjg.1_5'UTR|MUC4_uc021xjh.1_Non-coding_Transcript|MUC4_uc021xji.1_5'UTR|MUC4_uc021xjj.1_5'UTR|MUC4_uc021xjk.1_Missense_Mutation_p.R130Q|MUC4_uc021xjl.1_5'UTR|MUC4_uc003fvo.3_Missense_Mutation_p.R153Q|MUC4_uc003fvp.3_Missense_Mutation_p.R102Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	1146					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGGGTCCCGGCCTGTGAA	0.562													T	195498599	C	T	195498599	3	4	150	1	0	0	0	0	1	0	0	0	10054	652	23	1	3156	1	MUC4	3	195498599	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	26652770	195498599	2523831	28	10071											
SLC10A4	201780	broad.mit.edu	37	chr4	48486116	48486116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggctgctgtcccggcGgcaatctctccaatcttatg	5	13	11	12	2	2	0	0	0	2	0	5	0	4	0	2	3	1	3	2	3	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:48486116G>A	uc003gyc.2	+	0	757	c.538G>A	c.(538-540)Ggc>Agc	p.G180S		NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	180						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CTGTCCCGGCGGCAATCTCTC	0.632													A	48486116	G	A	48486116	3	1	150	1	0	0	0	0	1	0	0	0	14470	1116	39	1	540	1	SLC10A4	4	48486116	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		48486116	142668160	29	10072											
YTHDC1	91746	broad.mit.edu	37	chr4	69184554	69184554	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgacttacctgtccacttCctggtatcgtggatccttta	6	14	7	14	2	0	0	0	0	0	0	4	2	3	1	5	2	1	1	5	2	3	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:69184554C>A	uc003hdx.3	-	12	2064	c.1711G>T	c.(1711-1713)Gaa>Taa	p.E571*	YTHDC1_uc003hdy.3_Nonsense_Mutation_p.E553*	NM_001031732	NP_001026902	Q96MU7	YTDC1_HUMAN	Homo sapiens YTH domain containing 1 (YTHDC1), transcript variant 1, mRNA.	571	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTGTCCACTTCCTGGTATCGT	0.318													A	69184554	C	A	69184554	4	1	150	1	0	0	0	0	0	1	0	0	17598	864	30	4	492	4	YTHDC1	4	69184554	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	20698438	69184554	121969722	30	10073											
SGMS2	166929	broad.mit.edu	37	chr4	108831540	108831540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacagactaatttcttatCtcgagcatggtggttcccca	9	14	7	11	1	3	1	1	0	2	1	5	2	4	1	2	2	1	2	2	2	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:108831540C>T	uc003hyo.3	+	5	1568	c.929C>T	c.(928-930)tCt>tTt	p.S310F	SGMS2_uc003hyl.4_Missense_Mutation_p.S310F|AK123292_uc003hym.1_Intron|SGMS2_uc003hyn.3_Missense_Mutation_p.S310F	NM_152621	NP_689834	Q8NHU3	SMS2_HUMAN	Homo sapiens sphingomyelin synthase 2 (SGMS2), transcript variant 1, mRNA.	310					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	AATTTCTTATCTCGAGCATGG	0.388													T	108831540	C	T	108831540	3	4	150	1	0	0	0	0	1	0	0	0	14308	913	32	2	947	2	SGMS2	4	108831540	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	39646986	108831540	82322736	31	10074											
TBC1D9	23158	broad.mit.edu	37	chr4	141545490	141545490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctggctttaggctcacCgtaacaaagccatcatctgc	9	12	8	12	1	4	0	2	0	2	0	4	0	4	0	2	2	3	3	2	2	3	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr4:141545490C>T	uc010ioj.3	-	18	3224	c.2952G>A	c.(2950-2952)acG>acA	p.T984T		NM_015130	NP_055945	Q6ZT07	TBCD9_HUMAN	Homo sapiens TBC1 domain family, member 9 (with GRAM domain) (TBC1D9), mRNA.	984						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TTAGGCTCACCGTAACAAAGC	0.373													T	141545490	C	T	141545490	2	4	150	1	0	0	0	0	0	0	0	1	15727	639	23	1		1	TBC1D9	4	141545490	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	32713950	141545490	49608786	32	10075											
SLC6A18	348932	broad.mit.edu	37	chr5	1225635	1225635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccggccgcctgcgacctcGgggatgagaggcccaagtgg	7	4	16	14	4	0	1	0	1	0	1	1	4	0	2	5	5	1	0	5	5	1	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:1225635G>A	uc003jby.2	+	0	166	c.43G>A	c.(43-45)Ggg>Agg	p.G15R		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	15					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGCGACCTCGGGGATGAGAG	0.642													A	1225635	G	A	1225635	3	1	150	1	0	0	0	0	1	0	0	0	14775	1116	39	1	45	1	SLC6A18	5	1225635	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		1225635	179689625	33	10076											
LHFPL2	10184	broad.mit.edu	37	chr5	77784877	77784877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccagcccaaggagcagtctCcaggtttgtaggcagatgca	10	7	12	12	0	1	1	0	0	1	1	2	2	1	2	3	3	3	5	3	3	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:77784877C>T	uc003kfo.3	-	4	1206	c.530G>A	c.(529-531)gGa>gAa	p.G177E		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	177						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGCAGTCTCCAGGTTTGTA	0.512													T	77784877	C	T	77784877	3	4	150	1	0	0	0	0	1	0	0	0	8825	855	30	2	160	2	LHFPL2	5	77784877	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	76559242	77784877	103130383	34	10077											
ARSK	153642	broad.mit.edu	37	chr5	94918696	94918696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccatggttaatcttatcCgtaacaggactaaagtcaga	13	10	9	9	1	2	1	1	0	1	1	3	2	3	2	2	3	1	2	2	3	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:94918696C>T	uc003kld.3	+	3	651	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ARSK_uc010jbg.3_Missense_Mutation_p.R6C|ARSK_uc011cum.2_Non-coding_Transcript	NM_198150	NP_937793	Q6UWY0	ARSK_HUMAN	Homo sapiens arylsulfatase family, member K (ARSK), mRNA.	165						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TAATCTTATCCGTAACAGGAC	0.418													T	94918696	C	T	94918696	3	4	150	1	0	0	0	0	1	0	0	0	1001	652	23	1	507	1	ARSK	5	94918696	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	17133819	94918696	85996564	35	10078											
PHF15	23338	broad.mit.edu	37	chr5	133902013	133902013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggaaaaggtgaccctgCgcaagcagcggctgcagcag	11	4	14	12	2	0	1	0	1	0	0	0	2	0	2	2	3	5	5	2	3	3	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:133902013C>T	uc003kzk.2	+	8	1263	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	PHF15_uc011cxt.1_Missense_Mutation_p.R393C|PHF15_uc003kzl.2_Missense_Mutation_p.R393C|PHF15_uc003kzm.2_Missense_Mutation_p.R393C|PHF15_uc003kzn.2_Missense_Mutation_p.R393C|PHF15_uc003kzo.1_Missense_Mutation_p.R393C|PHF15_uc003kzp.3_Missense_Mutation_p.R101C	NM_015288	NP_056103	Q9NQC1	JADE2_HUMAN	Homo sapiens PHD finger protein 15 (PHF15), mRNA.	393					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGTGACCCTGCGCAAGCAGCG	0.642													T	133902013	C	T	133902013	3	4	150	1	0	0	0	0	1	0	0	0	11903	768	27	1	1207	1	PHF15	5	133902013	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	38983317	133902013	47013247	36	10079											
EBF1	1879	broad.mit.edu	37	chr5	158523369	158523369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattgctgtagagaagctGaagccggtagtgaattccgt	11	10	12	8	2	0	3	0	2	0	1	1	4	1	3	3	1	3	4	3	1	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr5:158523369G>T	uc010jip.3	-	2	639	c.337C>A	c.(337-339)Cag>Aag	p.Q113K	EBF1_uc011ddw.2_5'UTR|EBF1_uc011ddx.2_Missense_Mutation_p.Q113K|EBF1_uc003lxl.4_Missense_Mutation_p.Q113K	NM_024007	NP_076870	Q9UH73	COE1_HUMAN	Homo sapiens early B-cell factor 1 (EBF1), mRNA.	113					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TAGAGAAGCTGAAGCCGGTAG	0.592			T	HMGA2	lipoma								T	158523369	G	T	158523369	3	4	150	1	0	0	0	0	1	0	0	0	4919	1299	45	4	1494	4	EBF1	5	158523369	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	24621356	158523369	22391891	37	10080											
TDP2	51567	broad.mit.edu	37	chr6	24666809	24666809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaaggcgctctcctccaCcggaggctcgaagtaggagt	8	8	12	13	3	1	0	0	0	1	0	5	3	3	2	4	4	0	3	4	4	3	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:24666809C>T	uc003nej.3	-	1	221	c.196G>A	c.(196-198)Gtg>Atg	p.V66M	TDP2_uc010jpu.1_Missense_Mutation_p.V66M|ACOT13_uc010jpv.3_5'Flank|ACOT13_uc003nek.3_5'Flank	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	66					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						CTCTCCTCCACCGGAGGCTCG	0.582								Direct reversal of damage					T	24666809	C	T	24666809	3	4	150	1	0	0	0	0	1	0	0	0	15829	507	18	2	916	2	TDP2	6	24666809	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		24666809	146448258	38	10081											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34839664	34839664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacagcccccaaaagaacagGtgtttttggtgcccacagga	12	7	11	11	0	0	1	0	0	0	1	0	3	0	2	3	3	3	1	3	3	3	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:34839664G>A	uc003oju.4	+	19	4393	c.4159G>A	c.(4159-4161)Gtg>Atg	p.V1387M	UHRF1BP1_uc010jvm.2_Non-coding_Transcript|UHRF1BP1_uc010jvn.3_Non-coding_Transcript|UHRF1BP1_uc010jvo.3_Non-coding_Transcript	NM_017754	NP_060224	Q6BDS2	URFB1_HUMAN	Homo sapiens UHRF1 binding protein 1 (UHRF1BP1), mRNA.	1387										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAAAGAACAGGTGTTTTTGGT	0.468													A	34839664	G	A	34839664	3	1	150	1	0	0	0	0	1	0	0	0	17070	1261	44	2	4237	2	UHRF1BP1	6	34839664	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	10172855	34839664	136275403	39	10082											
TREML4	285852	broad.mit.edu	37	chr6	41196175	41196175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgggctggaatggcctggGgtggggtccacacctgctgc	4	9	17	11	0	1	0	0	0	1	0	2	1	2	1	3	7	2	2	3	7	1	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:41196175G>A	uc003oqc.3	+	0	114	c.10G>A	c.(10-12)Ggt>Agt	p.G4S	TREML4_uc003oqd.3_5'Flank	NM_198153	NP_937796	Q6UXN2	TRML4_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 4 (TREML4), mRNA.	4						extracellular region				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|skin(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.196)					AATGGCCTGGGGTGGGGTCCA	0.597													A	41196175	G	A	41196175	3	1	150	1	0	0	0	0	1	0	0	0	16575	1232	43	2	12	2	TREML4	6	41196175	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	6356511	41196175	129918892	40	10083											
FAM83B	222584	broad.mit.edu	37	chr6	54804576	54804576	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaacttgttgagtccttTgatgaagaatttagaactct	12	14	9	6	0	1	5	0	3	1	2	2	6	2	6	1	1	2	1	1	1	5	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr6:54804576T>G	uc003pck.3	+	4	923	c.807T>G	c.(805-807)ttT>ttG	p.F269L		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	269										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGAGTCCTTTGATGAAGAAT	0.398													G	54804576	T	G	54804576	3	3	150	1	0	0	0	0	1	0	0	0	5684	1809	63	5	821	5	FAM83B	6	54804576	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	13608401	54804576	116310491	41	10084											
ADAP1	11033	broad.mit.edu	37	chr7	959664	959664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcgctcgtacttggccCggatccactgctctcgaagg	5	10	11	15	4	1	0	0	0	1	0	5	2	2	1	3	3	2	3	3	3	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:959664C>T	uc003sjo.4	-	3	522	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	ADAP1_uc011jvs.2_Missense_Mutation_p.R15Q|ADAP1_uc003sjn.4_Missense_Mutation_p.R38Q|ADAP1_uc010ksc.3_Missense_Mutation_p.R38Q	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	110	Arf-GAP.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding	p.R110Q(2)		endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTACTTGGCCCGGATCCACTG	0.682													T	959664	C	T	959664	3	4	150	1	0	0	0	0	1	0	0	0	279	652	23	1	827	1	ADAP1	7	959664	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		959664	158178999	42	10085											
MAD1L1	8379	broad.mit.edu	37	chr7	2255803	2255803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccctcaccgcaggtgcgcGctctcctcccgcagctgctt	4	8	9	20	4	2	0	1	0	1	0	4	0	3	0	5	1	3	5	5	1	0	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:2255803G>A	uc003slh.1	-	7	1064	c.798C>T	c.(796-798)agC>agT	p.S266S	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.S266S|MAD1L1_uc003slg.1_Silent_p.S266S|MAD1L1_uc010ksh.1_Silent_p.S266S|MAD1L1_uc003sli.1_Silent_p.S174S|MAD1L1_uc010ksi.1_Silent_p.S219S|MAD1L1_uc010ksj.3_Silent_p.S266S	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	266					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GCAGGTGCGCGCTCTCCTCCC	0.637													A	2255803	G	A	2255803	2	1	150	1	0	0	0	0	0	0	0	1	9218	1078	38	1		1	MAD1L1	7	2255803	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	1296139	2255803	156882860	43	10086											
ELMO1	9844	broad.mit.edu	37	chr7	36917679	36917679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctaagtctccgtaatgCaggactttgtgatttggcga	8	15	10	8	2	3	1	0	1	3	0	4	3	3	2	1	2	1	2	1	2	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:36917679C>T	uc022abv.1	-	18	2468	c.1758G>A	c.(1756-1758)ctG>ctA	p.L586L	ELMO1_uc003tfi.2_Silent_p.L106L|ELMO1_uc003tfj.2_Silent_p.L106L|ELMO1_uc011kbb.2_Non-coding_Transcript|ELMO1_uc011kbc.2_Silent_p.L490L|ELMO1_uc003tfk.2_Silent_p.L586L|ELMO1_uc010kxg.2_Silent_p.L586L	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	586	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CTCCGTAATGCAGGACTTTGT	0.453													T	36917679	C	T	36917679	2	4	150	1	0	0	0	0	0	0	0	1	5106	697	25	2		2	ELMO1	7	36917679	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	34661876	36917679	122220984	44	10087											
ELMO1	9844	broad.mit.edu	37	chr7	37172811	37172811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcccaggtggagtctgcGtgaagtccatggcagggttg	8	9	15	9	1	1	1	0	1	1	0	3	2	3	2	2	4	1	2	2	4	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:37172811G>A	uc022abv.1	-	13	1825	c.1115C>T	c.(1114-1116)aCg>aTg	p.T372M	ELMO1_uc011kbc.2_Missense_Mutation_p.T276M|ELMO1_uc003tfk.2_Missense_Mutation_p.T372M|ELMO1_uc010kxg.2_Missense_Mutation_p.T372M	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	372	ELMO.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding	p.T372M(2)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TGGAGTCTGCGTGAAGTCCAT	0.463													A	37172811	G	A	37172811	3	1	150	1	0	0	0	0	1	0	0	0	5106	1145	40	1	1104	1	ELMO1	7	37172811	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	255132	37172811	121965852	45	10088											
DDC	1644	broad.mit.edu	37	chr7	50596925	50596925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatcggatgagtaagccAccagcttctccatgatagcg	10	9	10	12	2	1	3	0	3	1	0	3	4	1	4	4	1	3	2	4	1	2	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:50596925A>G	uc003tpg.4	-	4	752	c.551T>C	c.(550-552)gTg>gCg	p.V184A	DDC_uc022ade.1_Missense_Mutation_p.V106A|DDC_uc003tpf.4_Missense_Mutation_p.V184A|DDC_uc022adb.1_Missense_Mutation_p.V146A|DDC_uc022adc.1_Missense_Mutation_p.V184A|DDC_uc022add.1_Intron|DDC_uc022adf.1_Missense_Mutation_p.V184A|LOC100129427_uc022adg.1_5'Flank	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	184					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.V184V(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGAGTAAGCCACCAGCTTCTC	0.547													G	50596925	A	G	50596925	3	3	150	1	0	0	0	0	1	0	0	0	4359	159	6	3	931	3	DDC	7	50596925	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	13424114	50596925	108541738	46	10089											
EGFR	1956	broad.mit.edu	37	chr7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagccacgtgcaaggacAcctgccccccactcatgctc	10	5	8	18	2	1	0	1	0	0	0	2	2	1	1	5	1	4	2	5	1	2	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:55221743A>C	uc003tqk.3	+	6	1033	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_uc003tqh.3_Missense_Mutation_p.T263P|EGFR_uc003tqi.3_Missense_Mutation_p.T263P|EGFR_uc003tqj.3_Missense_Mutation_p.T263P|EGFR_uc022adm.1_Missense_Mutation_p.T263P|EGFR_uc010kzg.2_Missense_Mutation_p.T218P|EGFR_uc022adn.1_Missense_Mutation_p.T218P|EGFR_uc011kco.2_Missense_Mutation_p.T210P|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T263P(8)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAAGGACACCTGCCCCCC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55221743	A	C	55221743	3	2	150	1	0	0	0	0	1	0	0	0	5006	159	6	5	813	5	EGFR	7	55221743	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	4624818	55221743	103916920	47	10090											
CACNA2D1	781	broad.mit.edu	37	chr7	81589046	81589046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggatacaagtctgctcCgcttgtatgagcagtcgtgt	10	11	11	9	2	1	1	0	1	1	0	3	2	2	2	1	1	3	4	1	1	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:81589046C>T	uc003uhr.1	-	36	3322	c.3066G>A	c.(3064-3066)gcG>gcA	p.A1022A	CACNA2D1_uc011kgy.1_Silent_p.A234A	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	1034						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAGTCTGCTCCGCTTGTATGA	0.368													T	81589046	C	T	81589046	2	4	150	1	0	0	0	0	0	0	0	1	2574	639	23	1		1	CACNA2D1	7	81589046	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	26367303	81589046	77549617	48	10091											
ABCB1	5243	broad.mit.edu	37	chr7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaagccaatttgaatagcGaaactaaaaagagagaaaaa	22	6	8	5	1	1	3	1	1	0	2	1	5	1	3	1	0	3	0	1	0	10	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87214993G>A	uc003uiz.2	-	4	614	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_uc011khc.2_Missense_Mutation_p.R41C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	41					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	p.R41H(1)		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)	TTTGAATAGCGAAACTAAAAA	0.378													A	87214993	G	A	87214993	3	1	150	1	0	0	0	0	1	0	0	0	40	1058	37	1	3821	1	ABCB1	7	87214993	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	5625947	87214993	71923670	49	10092											
RUNDC3B	154661	broad.mit.edu	37	chr7	87280179	87280179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggtcttgctttgagaCaattgatgattcttctcctg	7	17	9	8	1	3	4	0	4	3	1	5	5	3	4	1	1	1	1	1	1	1	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:87280179C>A	uc003ujb.3	+	1	575	c.164C>A	c.(163-165)aCa>aAa	p.T55K	ABCB1_uc003uiz.2_Intron|ABCB1_uc003uja.2_Intron|ABCB1_uc010lei.2_Intron|RUNDC3B_uc011khd.1_Missense_Mutation_p.T55K|RUNDC3B_uc011khe.2_Missense_Mutation_p.T55K|RUNDC3B_uc003ujc.3_Missense_Mutation_p.T55K	NM_138290	NP_612147	Q96NL0	RUN3B_HUMAN	Homo sapiens RUN domain containing 3B (RUNDC3B), transcript variant 1, mRNA.	55										breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGCTTTGAGACAATTGATGAT	0.338													A	87280179	C	A	87280179	3	1	150	1	0	0	0	0	1	0	0	0	13836	478	17	4	170	4	RUNDC3B	7	87280179	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	65186	87280179	71858484	50	10093											
PON1	5444	broad.mit.edu	37	chr7	94937424	94937424	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacatacgaccacgctaaAcccaaatacatctcccagga	17	5	4	15	2	1	0	0	0	1	0	2	2	1	1	3	1	4	1	3	1	6	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:94937424A>T	uc003uns.3	-	5	694	c.597T>A	c.(595-597)ggT>ggA	p.G199G	PON1_uc011kih.2_Silent_p.G199G	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	199					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.L198fs*3(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	ACCACGCTAAACCCAAATACA	0.418													T	94937424	A	T	94937424	2	4	150	1	0	0	0	0	0	0	0	1	12325	30	2	5		5	PON1	7	94937424	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	7657245	94937424	64201239	51	10094											
LRCH4	4034	broad.mit.edu	37	chr7	100175848	100175848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagtccagcccaccatcGtaccgatgtcccggaaatag	10	7	9	15	3	0	1	0	1	0	0	3	3	2	2	6	1	2	1	6	1	3	2	rs150987161	byFrequency	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100175848G>A	uc003uvj.3	-	6	935	c.882C>T	c.(880-882)taC>taT	p.Y294Y	LRCH4_uc010lgz.3_Non-coding_Transcript|LRCH4_uc003uvi.3_Non-coding_Transcript|LRCH4_uc011kjw.1_5'UTR|LRCH4_uc011kjx.1_Non-coding_Transcript	NM_002319	NP_002310	O75427	LRCH4_HUMAN	Homo sapiens leucine-rich repeats and calponin homology (CH) domain containing 4 (LRCH4), mRNA.	294					nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCCACCATCGTACCGATGTC	0.597													A	100175848	G	A	100175848	2	1	150	1	0	0	0	0	0	0	0	1	9005	1140	40	1		1	LRCH4	7	100175848	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	5238424	100175848	58962815	52	10095											
PCOLCE	5118	broad.mit.edu	37	chr7	100201641	100201641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgacctggagctgcacccCgcctgccgctacgatgctct	5	9	10	17	4	1	0	0	0	1	0	2	3	1	1	5	1	5	4	5	1	1	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr7:100201641C>T	uc003uvo.3	+	2	462	c.264C>T	c.(262-264)ccC>ccT	p.P88P	LOC100129845_uc011kjy.2_Non-coding_Transcript|LOC100129845_uc022air.1_5'Flank|PCOLCE_uc011kkb.1_Silent_p.P88P	NM_002593	NP_002584	Q15113	PCOC1_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer (PCOLCE), mRNA.	88	CUB 1.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	p.H87P(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					AGCTGCACCCCGCCTGCCGCT	0.672													T	100201641	C	T	100201641	2	4	150	1	0	0	0	0	0	0	0	1	11670	639	23	1		1	PCOLCE	7	100201641	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	25793	100201641	58937022	53	10096											
SH2D4A	63898	broad.mit.edu	37	chr8	19190497	19190497	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttcattggaaacttggAgctgataaggaagtctgggt	10	12	14	5	1	2	1	1	1	1	0	3	4	2	4	0	5	2	2	0	5	3	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:19190497A>G	uc003wzc.3	+	2	521	c.213A>G	c.(211-213)ggA>ggG	p.G71G	SH2D4A_uc003wzb.3_Silent_p.G71G|SH2D4A_uc011kym.2_Silent_p.G26G	NM_001174159	NP_071354	Q9H788	SH24A_HUMAN	Homo sapiens SH2 domain containing 4A (SH2D4A), transcript variant 2, mRNA.	71						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|stomach(1)	16				Colorectal(111;0.0732)		GGAAACTTGGAGCTGATAAGG	0.408													G	19190497	A	G	19190497	2	3	150	1	0	0	0	0	0	0	0	1	14328	291	11	3		3	SH2D4A	8	19190497	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08		19190497	127173525	54	10097											
CPSF1	29894	broad.mit.edu	37	chr8	145623823	145623823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatgatctcctgccccGtctgcaggatctgcgggcga	5	9	12	15	3	3	1	0	1	3	0	5	3	4	2	4	2	3	2	4	2	0	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145623823G>A	uc003zcj.3	-	18	1838	c.1763C>T	c.(1762-1764)aCg>aTg	p.T588M		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	588					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CTCCTGCCCCGTCTGCAGGAT	0.672													A	145623823	G	A	145623823	3	1	150	1	0	0	0	0	1	0	0	0	3855	1145	40	1	2648	1	CPSF1	8	145623823	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	126433326	145623823	740199	55	10098											
LRRC14	9684	broad.mit.edu	37	chr8	145745327	145745327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtgcccactgcagccGtgccctcctgcaggagcggc	5	6	15	15	2	0	0	0	0	0	0	1	2	1	2	4	3	6	2	4	3	0	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr8:145745327G>A	uc003zdk.2	+	1	392	c.218G>A	c.(217-219)cGt>cAt	p.R73H	RECQL4_uc003zdj.3_5'Flank|LRRC14_uc003zdl.2_Missense_Mutation_p.R73H	NM_014665	NP_055480	Q15048	LRC14_HUMAN	Homo sapiens leucine rich repeat containing 14 (LRRC14), mRNA.	73										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CACTGCAGCCGTGCCCTCCTG	0.627													A	145745327	G	A	145745327	3	1	150	1	0	0	0	0	1	0	0	0	9038	1145	40	1	220	1	LRRC14	8	145745327	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	121504	145745327	618695	56	10099											
VLDLR	7436	broad.mit.edu	37	chr9	2643641	2643641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgtagcctctcgaacttgCcgacctgaccaatttgaatg	9	13	8	11	2	1	2	0	2	1	0	2	4	1	2	4	0	3	1	4	0	4	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:2643641C>T	uc003zhk.1	+	5	1231	c.834C>T	c.(832-834)tgC>tgT	p.C278C	VLDLR_uc003zhl.1_Silent_p.C278C|VLDLR_uc003zhm.1_Non-coding_Transcript	NM_003383	NP_003374	P98155	VLDLR_HUMAN	Homo sapiens very low density lipoprotein receptor (VLDLR), transcript variant 1, mRNA.	278	LDL-receptor class A 7.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTCGAACTTGCCGACCTGACC	0.488													T	2643641	C	T	2643641	2	4	150	1	0	0	0	0	0	0	0	1	17276	747	26	2		2	VLDLR	9	2643641	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08		2643641	138569790	57	10100											
FAM122A	116224	broad.mit.edu	37	chr9	71395730	71395730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatatcagccaaagagatTtttccagggcatcaccaaca	15	9	7	10	0	2	2	2	1	0	1	3	3	3	2	3	1	2	1	3	1	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:71395730T>C	uc004agw.1	+	0	767	c.650T>C	c.(649-651)tTt>tCt	p.F217S	PIP5K1B_uc004agu.3_Intron|PIP5K1B_uc011lrq.2_Intron|PIP5K1B_uc004agv.3_Intron	NM_138333	NP_612206	Q96E09	F122A_HUMAN	Homo sapiens family with sequence similarity 122A (FAM122A), mRNA.	217										endometrium(1)|lung(2)	3						CCAAAGAGATTTTTCCAGGGC	0.453													C	71395730	T	C	71395730	3	2	150	1	0	0	0	0	1	0	0	0	5464	1841	64	3	652	3	FAM122A	9	71395730	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	68752089	71395730	69817701	58	10101											
NFIL3	4783	broad.mit.edu	37	chr9	94172272	94172272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacccagagaaagaattccCcatatagttttgatagatgg	14	11	9	7	0	0	4	0	1	0	3	1	5	1	4	3	1	1	2	3	1	6	7			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:94172272C>T	uc022bjt.1	-	0	745	c.745G>A	c.(745-747)Ggg>Agg	p.G249R	NFIL3_uc004arh.3_Missense_Mutation_p.G249R	NM_005384	NP_005375	Q16649	NFIL3_HUMAN	Homo sapiens nuclear factor, interleukin 3 regulated (NFIL3), mRNA.	249					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						AAAGAATTCCCCATATAGTTT	0.498													T	94172272	C	T	94172272	3	4	150	1	0	0	0	0	1	0	0	0	10449	623	22	2	647	2	NFIL3	9	94172272	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	22776542	94172272	47041159	59	10102											
FGD3	89846	broad.mit.edu	37	chr9	95768391	95768391	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgtcaagaactttgacCgagccgtagggctggtgagc	10	9	14	8	2	1	3	1	2	0	1	1	4	1	3	2	2	3	3	2	2	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:95768391C>T	uc004asz.2	+	5	1294	c.766C>T	c.(766-768)Cga>Tga	p.R256*	FGD3_uc004asw.2_Nonsense_Mutation_p.R256*|FGD3_uc004asx.2_Nonsense_Mutation_p.R256*|FGD3_uc004ata.3_Nonsense_Mutation_p.R59*	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	256	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAACTTTGACCGAGCCGTAGG	0.582													T	95768391	C	T	95768391	4	4	150	1	0	0	0	0	0	1	0	0	5883	644	23	1	780	1	FGD3	9	95768391	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1596119	95768391	45445040	60	10103											
HEMGN	55363	broad.mit.edu	37	chr9	100700360	100700360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagaatggttctcttctTgatgagggtcaggtgtctga	7	14	14	6	0	4	4	1	3	3	1	5	5	4	4	0	4	0	1	0	4	1	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:100700360T>C	uc004axy.3	-	0	167	c.59A>G	c.(58-60)cAa>cGa	p.Q20R	HEMGN_uc004axz.3_Missense_Mutation_p.Q20R	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	20	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				GTTCTCTTCTTGATGAGGGTC	0.423													C	100700360	T	C	100700360	3	2	150	1	0	0	0	0	1	0	0	0	7105	1812	63	3	1411	3	HEMGN	9	100700360	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	4931969	100700360	40513071	61	10104											
KLF4	9314	broad.mit.edu	37	chr9	110249362	110249362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aactctttgtgtaggttttgCcgcagcccgcgtaatcacaa	9	12	9	11	3	2	0	1	0	1	0	2	0	2	0	2	1	3	4	2	1	4	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr9:110249362C>T	uc004bdh.3	-	2	1907	c.1286G>A	c.(1285-1287)gGc>gAc	p.G429D	KLF4_uc004bdf.2_Missense_Mutation_p.G354D|KLF4_uc022blk.1_Missense_Mutation_p.G70D|KLF4_uc004bdg.3_Missense_Mutation_p.G404D	NM_004235	NP_004226	O43474	KLF4_HUMAN	Homo sapiens Kruppel-like factor 4 (gut) (KLF4), mRNA.	438					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A429S(1)		breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTAGGTTTTGCCGCAGCCCGC	0.602													T	110249362	C	T	110249362	3	4	150	1	0	0	0	0	1	0	0	0	8406	739	26	2	236	2	KLF4	9	110249362	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	9549002	110249362	30964069	62	10105											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:89720852C>T	uc001kfb.3	+	7	2035	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R335*(50)|p.0?(37)|p.R55fs*1(5)|p.?(2)|p.R335G(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.R335fs*4(1)|p.R335fs*7(1)|p.G165_K342del(1)|p.N334Y(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720852	C	T	89720852	4	4	150	1	0	0	0	0	0	1	0	0	12823	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		89720852	45813895	63	10106											
COL17A1	1308	broad.mit.edu	37	chr10	105813706	105813706	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttttgaccctttggtccTtgtggacctgggtggcccaa	4	14	11	12	0	0	1	0	1	0	0	1	2	1	2	5	4	0	0	5	4	1	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:105813706T>C	uc001kxr.3	-	21	1975	c.1806A>G	c.(1804-1806)caA>caG	p.Q602Q	COL17A1_uc010qqv.1_Silent_p.Q586Q	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	602	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTTTGGTCCTTGTGGACCTG	0.443													C	105813706	T	C	105813706	2	2	150	1	0	0	0	0	0	0	0	1	3705	1606	56	3		3	COL17A1	10	105813706	Silent	SNP	T	TCGA-16-1045-01B-01W-0611-08	16092854	105813706	29721041	64	10107											
WDR11	55717	broad.mit.edu	37	chr10	122645345	122645345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtggtcaccatctcacaActtgaagagcctgagaaaga	14	7	11	9	0	2	4	2	2	1	3	3	6	2	5	2	2	2	0	2	2	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr10:122645345A>G	uc021pzt.1	+	14	2114	c.1868A>G	c.(1867-1869)aAc>aGc	p.N623S	WDR11_uc010qte.2_Missense_Mutation_p.N225S|WDR11_uc001lfd.1_Missense_Mutation_p.N141S	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	623						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						CCATCTCACAACTTGAAGAGC	0.488													G	122645345	A	G	122645345	3	3	150	1	0	0	0	0	1	0	0	0	17375	43	2	3	1926	3	WDR11	10	122645345	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	16831639	122645345	12889402	65	10108											
OR51A2	401667	broad.mit.edu	37	chr11	4976146	4976146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggggagagacatgcccGgcaaagcggtggacaacggc	12	3	17	9	3	0	2	0	1	0	1	0	5	0	4	1	6	3	1	1	6	2	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:4976146G>A	uc010qyt.2	-	0	798	c.798C>T	c.(796-798)gcC>gcT	p.A266A		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGACATGCCCGGCAAAGCGGT	0.453													A	4976146	G	A	4976146	2	1	150	1	0	0	0	0	0	0	0	1	11162	1103	39	1		1	OR51A2	11	4976146	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		4976146	130030370	66	10109											
TRIM5	85363	broad.mit.edu	37	chr11	5699638	5699638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcaaaatctgccaagacGttggttttgtcatactgtat	10	15	8	8	1	3	1	2	0	1	1	3	1	3	1	1	1	3	4	1	1	5	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:5699638G>A	uc001mbm.2	-	3	843	c.540C>T	c.(538-540)aaC>aaT	p.N180N	TRIM5_uc001mbq.1_Silent_p.N180N|TRIM5_uc001mbl.2_Non-coding_Transcript|TRIM5_uc001mbn.3_Silent_p.N180N|TRIM5_uc001mbp.3_Silent_p.N180N|TRIM5_uc021qcx.1_Silent_p.N180N	NM_033034	NP_149023	Q9C035	TRIM5_HUMAN	Homo sapiens tripartite motif containing 5 (TRIM5), transcript variant alpha, mRNA.	180					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	p.N180S(1)|p.T179S(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CTGCCAAGACGTTGGTTTTGT	0.473													A	5699638	G	A	5699638	2	1	150	1	0	0	0	0	0	0	0	1	16626	1136	40	1		1	TRIM5	11	5699638	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	723492	5699638	129306878	67	10110											
NAV2	89797	broad.mit.edu	37	chr11	20065530	20065530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtctctgtccacagactGatgctgagaagcactcacag	12	8	10	11	0	2	4	1	2	1	3	4	5	3	4	1	0	2	2	1	0	1	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:20065530G>A	uc010rdm.2	+	13	3341	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N	NAV2_uc001mpp.3_Missense_Mutation_p.D907N|NAV2_uc001mpr.4_Missense_Mutation_p.D971N|NAV2_uc021qew.1_Missense_Mutation_p.D971N|NAV2_uc001mpt.2_Missense_Mutation_p.D57N|NAV2_uc009yhx.3_Missense_Mutation_p.D57N|NAV2_uc009yhy.1_5'UTR	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	994						nucleus	ATP binding|helicase activity	p.D994N(2)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCCACAGACTGATGCTGAGAA	0.507													A	20065530	G	A	20065530	3	1	150	1	0	0	0	0	1	0	0	0	10260	1290	45	2	3070	2	NAV2	11	20065530	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	14365892	20065530	114940986	68	10111											
OR10AG1	282770	broad.mit.edu	37	chr11	55735214	55735214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatagtacctgctccaaaGaataagattacaactattag	16	11	7	7	0	0	3	0	1	0	2	1	3	1	3	2	0	4	2	2	0	9	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:55735214G>T	uc010rit.2	-	0	726	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					CTGCTCCAAAGAATAAGATTA	0.388													T	55735214	G	T	55735214	3	4	150	1	0	0	0	0	1	0	0	0	10973	933	33	4	182	4	OR10AG1	11	55735214	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	35669684	55735214	79271302	69	10112											
OR5B2	390190	broad.mit.edu	37	chr11	58189829	58189829	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaatttttgccttctcaaCactttcttgaatgcattctg	10	17	5	9	0	3	2	1	1	3	1	4	2	3	2	1	0	3	1	1	0	3	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:58189829C>A	uc010rkg.2	-	0	958	c.906G>T	c.(904-906)gtG>gtT	p.V302V		NM_001005566	NP_001005566	Q96R09	OR5B2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 2 (OR5B2), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCCTTCTCAACACTTTCTTGA	0.383													A	58189829	C	A	58189829	2	1	150	1	0	0	0	0	0	0	0	1	11226	465	17	4		4	OR5B2	11	58189829	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	2454615	58189829	76816687	70	10113											
WDR74	54663	broad.mit.edu	37	chr11	62602979	62602979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcccagatgggaaccCgcaagtccagccagtcattc	9	7	10	15	1	1	1	1	0	0	1	4	2	3	2	5	2	2	1	5	2	2	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:62602979C>T	uc001nvm.2	-	6	710	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	WDR74_uc001nvl.2_Missense_Mutation_p.R181Q|WDR74_uc009yoi.2_Missense_Mutation_p.R181Q|WDR74_uc010rmk.2_3'UTR	NM_018093	NP_060563	Q6RFH5	WDR74_HUMAN	Homo sapiens WD repeat domain 74 (WDR74), mRNA.	181						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						GATGGGAACCCGCAAGTCCAG	0.607													T	62602979	C	T	62602979	3	4	150	1	0	0	0	0	1	0	0	0	17426	652	23	1	639	1	WDR74	11	62602979	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	4413150	62602979	72403537	71	10114											
HTR3B	9177	broad.mit.edu	37	chr11	113813844	113813844	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaccagtgtgctggtGggctacaccgtcttcagggt	7	11	13	10	1	3	1	2	0	1	1	3	1	3	1	2	3	2	2	2	3	2	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr11:113813844G>T	uc001pok.3	+	6	975	c.837G>T	c.(835-837)gtG>gtT	p.V279V	HTR3B_uc001pol.3_Silent_p.V268V	NM_006028	NP_006019	O95264	5HT3B_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3B (HTR3B), mRNA.	279					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		GTGTGCTGGTGGGCTACACCG	0.572													T	113813844	G	T	113813844	2	4	150	1	0	0	0	0	0	0	0	1	7503	1335	47	4		4	HTR3B	11	113813844	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	51210865	113813844	21192672	72	10115											
VWF	7450	broad.mit.edu	37	chr12	6058287	6058287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacctgcatgggctccGtccgtgtcggagagcagcag	6	6	16	13	3	0	1	0	0	0	1	3	2	2	1	4	3	3	4	4	3	0	0			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:6058287G>A	uc001qnn.1	-	51	8586	c.8336C>T	c.(8335-8337)aCg>aTg	p.T2779M	ANO2_uc001qnm.2_5'Flank|VWF_uc010set.1_3'UTR	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	2779	CTCK.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	p.R2778Q(1)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CATGGGCTCCGTCCGTGTCGG	0.562													A	6058287	G	A	6058287	3	1	150	1	0	0	0	0	1	0	0	0	17348	1145	40	1	109	1	VWF	12	6058287	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		6058287	127793608	73	10116											
GYS2	2998	broad.mit.edu	37	chr12	21733300	21733300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatgcttattcattgcGtccactgctcttctgacagc	7	13	7	14	1	3	1	1	1	2	0	4	1	4	1	2	0	5	2	2	0	1	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:21733300G>A	uc001rfb.3	-	1	534	c.279C>T	c.(277-279)gaC>gaT	p.D93D		NM_021957	NP_068776	P54840	GYS2_HUMAN	Homo sapiens glycogen synthase 2 (liver) (GYS2), mRNA.	93					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TATTCATTGCGTCCACTGCTC	0.403													A	21733300	G	A	21733300	2	1	150	1	0	0	0	0	0	0	0	1	6968	1136	40	1		1	GYS2	12	21733300	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	15675013	21733300	112118595	74	10117											
MBD6	114785	broad.mit.edu	37	chr12	57922312	57922312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgagcccaaggatccacCccctcccgggccccattctg	6	7	9	19	1	1	1	0	1	1	0	3	2	3	2	7	2	2	1	7	2	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:57922312C>T	uc001soj.1	+	9	3013	c.2789C>T	c.(2788-2790)cCc>cTc	p.P930L	MBD6_uc001sok.1_Missense_Mutation_p.P798L|MBD6_uc001sol.1_Non-coding_Transcript	NM_052897	NP_443129	Q96DN6	MBD6_HUMAN	Homo sapiens methyl-CpG binding domain protein 6 (MBD6), mRNA.	930						chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						AAGGATCCACCCCCTCCCGGG	0.577													T	57922312	C	T	57922312	3	4	150	1	0	0	0	0	1	0	0	0	9423	623	22	2	2819	2	MBD6	12	57922312	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	36189012	57922312	75929583	75	10118											
ZFC3H1	196441	broad.mit.edu	37	chr12	72025622	72025622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggacatggcttcacttccaTtgttttactttgtgctgtga	7	17	9	8	0	1	1	1	1	0	0	2	2	2	2	1	2	2	3	1	2	1	6			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:72025622T>C	uc001swo.2	-	15	3765	c.3406A>G	c.(3406-3408)Atg>Gtg	p.M1136V		NM_144982	NP_659419	O60293	ZC3H1_HUMAN	Homo sapiens zinc finger, C3H1-type containing (ZFC3H1), mRNA.	1136					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTCACTTCCATTGTTTTACTT	0.358													C	72025622	T	C	72025622	3	2	150	1	0	0	0	0	1	0	0	0	17734	1493	52	3	2643	3	ZFC3H1	12	72025622	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	14103310	72025622	61826273	76	10119											
SSH1	54434	broad.mit.edu	37	chr12	109212060	109212060	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcaacgcagaaggttgaTcatcacctgaagatgttgag	12	10	11	8	2	2	5	2	3	0	2	3	5	2	5	1	1	1	4	1	1	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109212060T>A	uc001tnm.3	-	3	331	c.244A>T	c.(244-246)Atc>Ttc	p.I82F	SSH1_uc010sxg.2_Missense_Mutation_p.I93F|SSH1_uc001tnn.4_Missense_Mutation_p.I82F|SSH1_uc001tno.1_5'Flank	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	82					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGAAGGTTGATCATCACCTGA	0.383													A	109212060	T	A	109212060	3	1	150	1	0	0	0	0	1	0	0	0	15280	1435	50	5	3139	5	SSH1	12	109212060	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	37186438	109212060	24639835	77	10120											
ACACB	32	broad.mit.edu	37	chr12	109639415	109639415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgttcaggaaagaggccGggtgaagtacatcaagcgtc	13	6	14	8	3	2	2	2	1	0	1	3	4	2	3	1	3	3	2	1	3	5	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:109639415G>A	uc001tob.3	+	18	2941	c.2822G>A	c.(2821-2823)cGg>cAg	p.R941Q	ACACB_uc001toc.3_Missense_Mutation_p.R941Q	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	941	Biotinyl-binding.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAAGAGGCCGGGTGAAGTAC	0.542													A	109639415	G	A	109639415	3	1	150	1	0	0	0	0	1	0	0	0	107	1116	39	1	2892	1	ACACB	12	109639415	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	427355	109639415	24212480	78	10121											
CUX2	23316	broad.mit.edu	37	chr12	111772383	111772383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagggccgctccagctcctCgttgagcgggaagatgtact	8	8	14	11	3	0	3	0	1	0	2	3	4	2	4	3	2	3	4	3	2	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:111772383C>T	uc001tsa.2	+	18	3219	c.3065C>T	c.(3064-3066)tCg>tTg	p.S1022L		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1022						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCAGCTCCTCGTTGAGCGGG	0.647													T	111772383	C	T	111772383	3	4	150	1	0	0	0	0	1	0	0	0	4098	893	31	1	3139	1	CUX2	12	111772383	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	2132968	111772383	22079512	79	10122											
PITPNM2	57605	broad.mit.edu	37	chr12	123481392	123481393	+	Frame_Shift_Ins	INS	-	-	C																															ggtggccagcagggggagggINScagccaggggaatgtggtcc																										TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:123481392_123481393insC	uc001uej.1	-	10	1736_1737	c.1537_1538insG	c.(1537-1539)gccfs	p.A513fs	PITPNM2_uc001uek.1_Frame_Shift_Ins_p.A513fs	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	513					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CAGGGGGAGGGCAGCCAGGGGA	0.639													C	123481393	-	C	123481392	7	5	150	1	0	1	1	0	0	0	0	0	12028	1203	42	0	2571	0	PITPNM2	12	123481392	Frame_Shift_Ins	INS	-	TCGA-16-1045-01B-01W-0611-08	11709009	123481392	10370503	80	10123											
DNAH10	196385	broad.mit.edu	37	chr12	124333280	124333280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtctttcttcctaggccGtggggaagattttctctggc	5	15	11	10	1	3	1	0	0	3	1	5	2	4	2	2	4	0	0	2	4	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:124333280G>A	uc001uft.4	+	32	5624	c.5599G>A	c.(5599-5601)Gtg>Atg	p.V1867M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1867	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCTAGGCCGTGGGGAAGAT	0.443													A	124333280	G	A	124333280	3	1	150	1	0	0	0	0	1	0	0	0	4637	1145	40	1	5729	1	DNAH10	12	124333280	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	851888	124333280	9518615	81	10124											
RIMBP2	23504	broad.mit.edu	37	chr12	130935764	130935764	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcagatctgcatcttgcGctaccggatctcgacaggaa	10	9	10	12	3	4	1	1	0	3	1	5	5	4	3	1	2	3	2	1	2	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:130935764G>A	uc001uil.2	-	4	645	c.429C>T	c.(427-429)agC>agT	p.S143S	RIMBP2_uc001uim.3_Silent_p.S51S	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	143						cell junction|synapse		p.S143S(2)|p.G142S(1)		NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGCATCTTGCGCTACCGGATC	0.637													A	130935764	G	A	130935764	2	1	150	1	0	0	0	0	0	0	0	1	13452	1078	38	1		1	RIMBP2	12	130935764	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	6602484	130935764	2916131	82	10125											
GPR133	283383	broad.mit.edu	37	chr12	131620612	131620612	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagtggccgtgctgctGcccatcctgggtacctcgtg	5	9	14	13	2	0	0	0	0	0	0	2	0	1	0	4	3	4	4	4	3	2	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:131620612G>C	uc010tbm.2	+	22	2953	c.2394G>C	c.(2392-2394)ctG>ctC	p.L798L	GPR133_uc001uit.4_Silent_p.L766L|GPR133_uc009zyo.3_Silent_p.L48L|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	766					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		CCGTGCTGCTGCCCATCCTGG	0.592													C	131620612	G	C	131620612	2	2	150	1	0	0	0	0	0	0	0	1	6697	1306	46	4		4	GPR133	12	131620612	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	684848	131620612	2231283	83	10126											
ZNF140	7699	broad.mit.edu	37	chr12	133682985	133682985	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatgcatcccttattcaAcatacgaagagtcacactgg	12	10	8	11	1	2	1	2	0	0	1	3	2	3	1	1	2	3	2	1	2	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr12:133682985A>G	uc001ulo.3	+	4	1792	c.1122A>G	c.(1120-1122)caA>caG	p.Q374Q	ZNF140_uc001ulp.3_Silent_p.Q271Q|ZNF140_uc010tbu.2_Silent_p.Q271Q	NM_003440	NP_003431	P52738	ZN140_HUMAN	Homo sapiens zinc finger protein 140 (ZNF140), mRNA.	374						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		CCCTTATTCAACATACGAAGA	0.408													G	133682985	A	G	133682985	2	3	150	1	0	0	0	0	0	0	0	1	17830	40	2	3		3	ZNF140	12	133682985	Silent	SNP	A	TCGA-16-1045-01B-01W-0611-08	2062373	133682985	168910	84	10127											
C15orf32	145858	broad.mit.edu	37	chr15	93015653	93015653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgccaaagctcacgagTggatggtttgatgctgaagc	12	9	13	7	1	1	3	1	2	0	1	1	5	1	4	1	2	4	3	1	2	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr15:93015653T>C	uc002brc.1	+	0	747	c.275T>C	c.(274-276)gTg>gCg	p.V92A	C15orf32_uc010bod.1_Non-coding_Transcript	NM_153040	NP_694585	Q32M92	CO032_HUMAN	Homo sapiens chromosome 15 open reading frame 32 (C15orf32), mRNA.	92										endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	12	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0493)|OV - Ovarian serous cystadenocarcinoma(32;0.125)			agctcacgagtggATGGTTTG	0.413													C	93015653	T	C	93015653	3	2	150	1	0	0	0	0	1	0	0	0	1803	1696	59	3	277	3	C15orf32	15	93015653	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08		93015653	9515739	85	10128											
UNKL	64718	broad.mit.edu	37	chr16	1449391	1449391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtactggaaccgccGggggttgcgccgcctgtccc	4	8	13	16	4	1	0	1	0	0	0	2	1	2	1	6	3	3	2	6	3	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:1449391G>A	uc010brn.2	-	4	731	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	UNKL_uc002clq.3_Missense_Mutation_p.R240W	NM_001193388	NP_001180317	Q9H9P5	UNKL_HUMAN	Homo sapiens unkempt homolog (Drosophila)-like (UNKL), transcript variant 1, mRNA.	240						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				TGGAACCGCCGGGGGTTGCGC	0.701													A	1449391	G	A	1449391	3	1	150	1	0	0	0	0	1	0	0	0	17103	1115	39	1	838	1	UNKL	16	1449391	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		1449391	88905362	86	10129											
FBXO31	79791	broad.mit.edu	37	chr16	87368933	87368933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttggtgcccctggcacGccggccgtggaagctgagca	6	7	15	13	3	1	1	0	1	1	0	1	3	1	2	4	4	3	3	4	4	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr16:87368933G>A	uc002fjw.3	-	6	1017	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	FBXO31_uc010vot.2_Missense_Mutation_p.R153C|FBXO31_uc002fjv.3_Missense_Mutation_p.R217C	NM_024735	NP_079011	Q5XUX0	FBX31_HUMAN	Homo sapiens F-box protein 31 (FBXO31), mRNA.	325					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.F324F(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CCCCTGGCACGCCGGCCGTGG	0.662													A	87368933	G	A	87368933	3	1	150	1	0	0	0	0	1	0	0	0	5790	1087	38	1	658	1	FBXO31	16	87368933	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	85919542	87368933	2985820	87	10130											
OR1G1	8390	broad.mit.edu	37	chr17	3029921	3029921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactaaggggaatgaatttTccgaacccagattaactttc	13	11	7	10	1	0	2	0	1	0	1	2	4	1	3	3	2	2	0	3	2	5	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:3029921T>C	uc002fvc.1	-	0	925	c.925A>G	c.(925-927)Aaa>Gaa	p.K309E		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GAATGAATTTTCCGAACCCAG	0.428													C	3029921	T	C	3029921	3	2	150	1	0	0	0	0	1	0	0	0	11033	1792	62	3	20	3	OR1G1	17	3029921	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08		3029921	78165289	88	10131											
SLC6A4	6532	broad.mit.edu	37	chr17	28545202	28545202	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtcctcggagaagtaaTtggtgcagttgccagtgttc	7	14	13	7	1	0	1	0	0	0	1	3	2	1	1	2	2	2	5	2	2	2	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:28545202T>G	uc002hey.4	-	4	1176	c.632A>C	c.(631-633)aAt>aCt	p.N211T		NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	211					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	GGAGAAGTAATTGGTGCAGTT	0.542													G	28545202	T	G	28545202	3	3	150	1	0	0	0	0	1	0	0	0	14780	1493	52	5	1304	5	SLC6A4	17	28545202	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	25515281	28545202	52650008	89	10132											
ZNHIT3	9326	broad.mit.edu	37	chr17	34851065	34851065	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttcttgttaatttttAggggaatctgcaacattaag	10	20	7	4	0	2	0	0	0	2	0	2	1	2	1	0	2	2	2	0	2	5	9			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:34851065A>G	uc002hms.1	+	5	358	c.287_splice	c.e5-2	p.G96_splice	ZNHIT3_uc002hmt.1_Splice_Site|ZNHIT3_uc010cut.1_Intron	NM_004773	NP_004764	Q15649	ZNHI3_HUMAN	Homo sapiens zinc finger, HIT-type containing 3 (ZNHIT3), mRNA.	96					regulation of transcription, DNA-dependent	intracellular	metal ion binding|thyroid hormone receptor binding			lung(1)|pancreas(1)|prostate(1)	3		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0188)		GTTAATTTTTAGGGGAATCTG	0.403													G	34851065	A	G	34851065	5	3	150	1	0	0	0	0	0	0	1	0	18307	434	15	3	303	3	ZNHIT3	17	34851065	Splice_Site	SNP	A	TCGA-16-1045-01B-01W-0611-08	6305863	34851065	46344145	90	10133											
TNS4	84951	broad.mit.edu	37	chr17	38652473	38652473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcctccacctgtggggCttgctggagtcggccagggg	3	10	17	11	1	0	0	0	0	0	0	2	1	1	1	4	7	1	2	4	7	0	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:38652473C>T	uc010cxb.3	-	1	369	c.205G>A	c.(205-207)Gcc>Acc	p.A69T		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	69					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding	p.A69V(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			ACCTGTGGGGCTTGCTGGAGT	0.652													T	38652473	C	T	38652473	3	4	150	1	0	0	0	0	1	0	0	0	16445	797	28	2	1990	2	TNS4	17	38652473	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	3801408	38652473	42542737	91	10134											
MRC2	9902	broad.mit.edu	37	chr17	60758249	60758249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcagcgcatctgcacGtggttccaggccgagctgac	7	6	14	14	4	1	1	0	1	1	0	2	2	2	1	2	3	3	5	2	3	0	1	rs150592174		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr17:60758249G>A	uc002jad.3	+	16	2964	c.2562G>A	c.(2560-2562)acG>acA	p.T854T	MRC2_uc002jae.3_5'UTR|MRC2_uc002jaf.3_5'Flank	NM_006039	NP_006030	Q9UBG0	MRC2_HUMAN	Homo sapiens mannose receptor, C type 2 (MRC2), mRNA.	854	C-type lectin 5.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						GCATCTGCACGTGGTTCCAGG	0.637													A	60758249	G	A	60758249	2	1	150	1	0	0	0	0	0	0	0	1	9834	1132	40	1		1	MRC2	17	60758249	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	22105776	60758249	20436961	92	10135											
ZNF521	25925	broad.mit.edu	37	chr18	22806841	22806841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggaggtatagcccaccgtGaccagggaagggctgttgct	9	7	15	10	2	0	1	0	1	0	0	0	3	0	3	3	4	2	4	3	4	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr18:22806841G>A	uc002kvk.2	-	3	1288	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V	ZNF521_uc010xbe.1_Non-coding_Transcript|ZNF521_uc010dly.2_Silent_p.V347V|ZNF521_uc002kvl.2_Silent_p.V127V	NM_015461	NP_056276	Q96K83	ZN521_HUMAN	Homo sapiens zinc finger protein 521 (ZNF521), mRNA.	347					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCCCACCGTGACCAGGGAAG	0.542			T	PAX5	ALL								A	22806841	G	A	22806841	2	1	150	1	0	0	0	0	0	0	0	1	18066	1277	45	2		2	ZNF521	18	22806841	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		22806841	55270407	93	10136											
TMPRSS9	360200	broad.mit.edu	37	chr19	2421886	2421886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccctggcctgcgaggaggCccctggcgtgttttatctgg	3	10	14	14	2	1	0	0	0	1	0	1	2	1	1	5	5	1	1	5	5	1	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:2421886C>G	uc010xgx.2	+	12	2087	c.2087C>G	c.(2086-2088)gCc>gGc	p.A696G		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	696	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGCGAGGAGGCCCCTGGCGTG	0.617													G	2421886	C	G	2421886	3	3	150	1	0	0	0	0	1	0	0	0	16353	739	26	4	2137	4	TMPRSS9	19	2421886	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08		2421886	56707097	94	10137											
HOOK2	29911	broad.mit.edu	37	chr19	12876795	12876795	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgcaggtcctccacctgGgcccgcagctcggatagctg	5	9	12	15	2	1	0	0	0	1	0	4	1	3	1	4	3	3	4	4	3	1	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:12876795G>A	uc002muy.2	-	15	1716	c.1545C>T	c.(1543-1545)gcC>gcT	p.A515A	HOOK2_uc002muz.2_Silent_p.A515A	NM_013312	NP_037444	Q96ED9	HOOK2_HUMAN	Homo sapiens hook homolog 2 (Drosophila) (HOOK2), transcript variant 1, mRNA.	515	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						CCTCCACCTGGGCCCGCAGCT	0.672											OREG0025273	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	12876795	G	A	12876795	2	1	150	1	0	0	0	0	0	0	0	1	7338	1219	43	2		2	HOOK2	19	12876795	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	10454909	12876795	46252188	95	10138											
RYR1	6261	broad.mit.edu	37	chr19	38954119	38954119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctggcggagaacatccaCgagctctgggcgctaacccg	10	5	13	13	4	1	1	0	0	1	1	2	3	2	1	2	3	4	3	2	3	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:38954119C>T	uc002oit.3	+	20	2764	c.2634C>T	c.(2632-2634)caC>caT	p.H878H	RYR1_uc002oiu.3_Silent_p.H878H	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	878	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGAACATCCACGAGCTCTGGG	0.662													T	38954119	C	T	38954119	2	4	150	1	0	0	0	0	0	0	0	1	13859	535	19	1		1	RYR1	19	38954119	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	26077324	38954119	20174864	96	10139											
SLC6A16	28968	broad.mit.edu	37	chr19	49812323	49812323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctatgcctgtgttagacaAaacttgaccccctgctagag	10	10	9	12	0	0	3	0	1	0	2	0	3	0	3	4	0	3	2	4	0	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:49812323A>T	uc002pmz.3	-	6	1273	c.1039T>A	c.(1039-1041)Ttg>Atg	p.L347M	SLC6A16_uc002pna.3_Missense_Mutation_p.L347M|MIR4324_uc021uxj.1_5'Flank	NM_014037	NP_054756	Q9GZN6	S6A16_HUMAN	Homo sapiens solute carrier family 6, member 16 (SLC6A16), mRNA.	347						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		GTGTTAGACAAAACTTGACCC	0.478													T	49812323	A	T	49812323	3	4	150	1	0	0	0	0	1	0	0	0	14773	11	1	5	1195	5	SLC6A16	19	49812323	Missense_Mutation	SNP	A	TCGA-16-1045-01B-01W-0611-08	10858204	49812323	9316660	97	10140											
SIGLEC9	27180	broad.mit.edu	37	chr19	51630344	51630344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagggccagtctctgcGcctggtctgtgcagttgatg	5	10	14	12	1	2	2	0	1	2	1	3	2	2	2	3	2	2	2	3	2	0	1	rs149764192		TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:51630344G>A	uc010yct.2	+	3	901	c.806G>A	c.(805-807)cGc>cAc	p.R269H	SIGLEC9_uc002pvu.3_Missense_Mutation_p.R269H	NM_001198558	NP_001185487	Q9Y336	SIGL9_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 9 (SIGLEC9), transcript variant 1, mRNA.	269	Ig-like C2-type 2.			R -> H (in Ref. 2; AAF87223).	cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CAGTCTCTGCGCCTGGTCTGT	0.562													A	51630344	G	A	51630344	3	1	150	1	0	0	0	0	1	0	0	0	14409	1087	38	1	820	1	SIGLEC9	19	51630344	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	1818021	51630344	7498639	98	10141											
ZNF581	51545	broad.mit.edu	37	chr19	56155985	56155985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctctggcattttcctcCgttgagaccatggagggccc	6	10	11	14	1	1	1	0	1	1	1	3	3	3	2	5	3	1	2	5	3	0	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr19:56155985C>T	uc002qln.3	+	1	321	c.48C>T	c.(46-48)tcC>tcT	p.S16S	ZNF581_uc002qlq.3_Silent_p.S16S|ZNF581_uc021vcb.1_Silent_p.S16S|CCDC106_uc002qlr.3_5'Flank|CCDC106_uc021vcc.1_5'Flank|CCDC106_uc021vcd.1_5'Flank	NM_016535	NP_057619	Q9P0T4	ZN581_HUMAN	Homo sapiens zinc finger protein 581 (ZNF581), mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CATTTTCCTCCGTTGAGACCA	0.617													T	56155985	C	T	56155985	2	4	150	1	0	0	0	0	0	0	0	1	18114	639	23	1		1	ZNF581	19	56155985	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	4525641	56155985	2972998	99	10142											
C20orf194	25943	broad.mit.edu	37	chr20	3274853	3274853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacaggaagatgggtccGcatcacaggctcctggctaa	11	6	12	12	1	1	1	1	0	0	1	3	2	3	2	2	4	1	4	2	4	2	1	rs145634255	by1000genomes	TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:3274853G>A	uc002wii.2	-	24	2221	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	C20orf194_uc002wij.3_Missense_Mutation_p.R463W|C20orf194_uc002wik.2_Missense_Mutation_p.R398W	NM_001009984	NP_001009984	Q5TEA3	CT194_HUMAN	Homo sapiens chromosome 20 open reading frame 194 (C20orf194), mRNA.	724										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						AGATGGGTCCGCATCACAGGC	0.468													A	3274853	G	A	3274853	3	1	150	1	0	0	0	0	1	0	0	0	2120	1086	38	1	1415	1	C20orf194	20	3274853	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		3274853	59750667	100	10143											
SEC23B	10483	broad.mit.edu	37	chr20	18534935	18534935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgagtatgaaaacttCaagcaccttctgcaggcacc	12	8	8	13	1	2	1	1	1	1	0	2	2	2	1	3	1	4	4	3	1	4	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:18534935C>A	uc002wra.2	+	17	2510	c.2049C>A	c.(2047-2049)ttC>ttA	p.F683L	SEC23B_uc010zsb.2_Missense_Mutation_p.F665L|SEC23B_uc002wrb.2_Missense_Mutation_p.F683L|SEC23B_uc002wqz.2_Missense_Mutation_p.F683L|SEC23B_uc002wrc.2_Missense_Mutation_p.F683L	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	683					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATGAAAACTTCAAGCACCTTC	0.493													A	18534935	C	A	18534935	3	1	150	1	0	0	0	0	1	0	0	0	14085	825	29	4	2115	4	SEC23B	20	18534935	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	15260082	18534935	44490585	101	10144											
BPI	671	broad.mit.edu	37	chr20	36932754	36932754	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagaagggcctggactaCggtaactggatgcctccctt	8	9	11	13	1	0	1	0	0	0	1	2	3	2	3	4	4	3	1	4	4	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:36932754C>T	uc002xib.2	+	1	204	c.142_splice	c.e1+1	p.A48_splice		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	48					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GCCTGGACTACGGTAACTGGA	0.607													T	36932754	C	T	36932754	2	4	150	1	0	0	0	0	0	0	0	1	1499	550	19	1		1	BPI	20	36932754	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	18397819	36932754	26092766	102	10145											
SLC9A8	23315	broad.mit.edu	37	chr20	48503378	48503378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcaggaccttaagggcttCgtgtggctggacgccaagta	8	8	15	10	3	0	0	0	0	0	0	1	2	0	2	2	5	0	4	2	5	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr20:48503378C>T	uc002xuv.1	+	14	1791	c.1581C>T	c.(1579-1581)ttC>ttT	p.F527F	SLC9A8_uc010zym.1_Silent_p.F227F|SLC9A8_uc010gid.3_Silent_p.F151F	NM_015266	NP_056081	Q9Y2E8	SL9A8_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 8 (SLC9A8), mRNA.	527						Golgi membrane|integral to membrane	sodium:hydrogen antiporter activity	p.F527F(2)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30			BRCA - Breast invasive adenocarcinoma(9;3.91e-07)			TTAAGGGCTTCGTGTGGCTGG	0.627													T	48503378	C	T	48503378	2	4	150	1	0	0	0	0	0	0	0	1	14814	883	31	1		1	SLC9A8	20	48503378	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	11570624	48503378	14522142	103	10146											
BRWD1	54014	broad.mit.edu	37	chr21	40571510	40571510	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatttcaccagtctccaatGaattgttatcagaatcactt	13	14	5	9	0	4	2	3	1	1	1	5	3	4	2	2	0	0	1	2	0	5	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr21:40571510G>T	uc002yxk.2	-	39	5127	c.4832C>A	c.(4831-4833)tCa>tAa	p.S1611*	BRWD1_uc010goc.1_Nonsense_Mutation_p.S254*|BRWD1_uc021wjf.1_Nonsense_Mutation_p.S1611*	NM_018963	NP_061836	Q9NSI6	BRWD1_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 1 (BRWD1), transcript variant 1, mRNA.	1611					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGTCTCCAATGAATTGTTATC	0.378											OREG0003861	type=REGULATORY REGION|Gene=BRWD1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	40571510	G	T	40571510	4	4	150	1	0	0	0	0	0	1	0	0	1534	1294	45	4	2381	4	BRWD1	21	40571510	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		40571510	7558385	104	10147											
CABIN1	23523	broad.mit.edu	37	chr22	24466765	24466765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactaggactccttgctccgGctgaaggactatcggcagtg	8	10	12	11	2	0	1	0	1	0	0	3	3	2	3	2	4	2	3	2	4	4	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:24466765G>A	uc002zzi.1	+	16	2374	c.2247G>A	c.(2245-2247)cgG>cgA	p.R749R	CABIN1_uc021wnc.1_Silent_p.R699R|CABIN1_uc002zzj.1_Silent_p.R699R|CABIN1_uc002zzl.2_Silent_p.R749R	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	749					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CCTTGCTCCGGCTGAAGGACT	0.562													A	24466765	G	A	24466765	2	1	150	1	0	0	0	0	0	0	0	1	2554	1190	42	2		2	CABIN1	22	24466765	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08		24466765	26837801	105	10148											
RANGAP1	5905	broad.mit.edu	37	chr22	41654011	41654011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcaggttgatgacccGcagcagggggttgacagcga	9	8	15	9	2	2	3	2	3	0	0	2	4	2	3	1	3	2	4	1	3	0	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chr22:41654011G>A	uc003azs.3	-	5	2185	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	RANGAP1_uc003azt.3_Missense_Mutation_p.R239W|RANGAP1_uc003azu.3_Missense_Mutation_p.R239W|RANGAP1_uc011aoz.2_Missense_Mutation_p.R184W	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	239					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TTGATGACCCGCAGCAGGGGG	0.627													A	41654011	G	A	41654011	3	1	150	1	0	0	0	0	1	0	0	0	13121	1086	38	1	1088	1	RANGAP1	22	41654011	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	17187246	41654011	9650555	106	10149											
OFD1	8481	broad.mit.edu	37	chrX	13786260	13786260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagtaatcaagaaataaaaGacaaatctgctcacagtgaa	20	8	7	6	0	3	4	2	2	1	2	3	4	3	4	0	0	1	2	0	0	7	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:13786260G>C	uc004cvp.4	+	20	3204	c.2845G>C	c.(2845-2847)Gac>Cac	p.D949H	OFD1_uc004cvr.4_Missense_Mutation_p.D479H|OFD1_uc011mil.2_Missense_Mutation_p.D516H|OFD1_uc004cvq.4_Missense_Mutation_p.D772H|OFD1_uc010nen.3_Missense_Mutation_p.D947H|OFD1_uc004cvs.4_Non-coding_Transcript|OFD1_uc004cvu.4_Missense_Mutation_p.D908H|OFD1_uc004cvv.4_Missense_Mutation_p.D907H	NM_003611	NP_003602	O75665	OFD1_HUMAN	Homo sapiens oral-facial-digital syndrome 1 (OFD1), mRNA.	949	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						AGAAATAAAAGACAAATCTGC	0.358													C	13786260	G	C	13786260	3	2	150	1	0	0	0	0	1	0	0	0	10914	942	33	4	2927	4	OFD1	23	13786260	Missense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08		13786260	141484300	107	10150											
HUWE1	10075	broad.mit.edu	37	chrX	53612010	53612010	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaccgtgtatcttcttcGgcctgcagtgaatcgcacgc	6	12	11	12	4	2	1	0	1	2	0	4	2	2	2	2	2	1	3	2	2	2	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:53612010G>A	uc004dsp.3	-	39	5365	c.4963C>T	c.(4963-4965)Cga>Tga	p.R1655*	HUWE1_uc004dsn.3_Nonsense_Mutation_p.R480*	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	1655	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TATCTTCTTCGGCCTGCAGTG	0.502													A	53612010	G	A	53612010	4	1	150	1	0	0	0	0	0	1	0	0	7519	1124	39	1	8341	1	HUWE1	23	53612010	Nonsense_Mutation	SNP	G	TCGA-16-1045-01B-01W-0611-08	39825750	53612010	101658550	108	10151											
OGT	8473	broad.mit.edu	37	chrX	70777507	70777507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgctgagaggcacggcaaCctgtgcttagataaggtgtg	10	10	14	7	1	0	2	0	1	0	2	0	3	0	2	1	3	3	4	1	3	3	3			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:70777507C>A	uc004eaa.2	+	11	1825	c.1587C>A	c.(1585-1587)aaC>aaA	p.N529K	BCYRN1_uc011mpt.1_Intron|OGT_uc004eab.2_Missense_Mutation_p.N519K|OGT_uc004eac.3_Missense_Mutation_p.N390K|OGT_uc004ead.3_Missense_Mutation_p.N148K	NM_181672	NP_858058	O15294	OGT1_HUMAN	Homo sapiens O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase) (OGT), transcript variant 1, mRNA.	529					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.L528P(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GGCACGGCAACCTGTGCTTAG	0.368													A	70777507	C	A	70777507	3	1	150	1	0	0	0	0	1	0	0	0	10923	506	18	4	1633	4	OGT	23	70777507	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	17165497	70777507	84493053	109	10152											
DRP2	1821	broad.mit.edu	37	chrX	100511129	100511129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaggaccagtacctgctgCggcactccagccccatcaca	10	5	9	17	2	1	0	1	0	0	0	2	2	2	1	5	2	4	3	5	2	1	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:100511129C>T	uc004egz.2	+	20	2638	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	DRP2_uc011mrh.1_Missense_Mutation_p.R679W	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	757					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTACCTGCTGCGGCACTCCAG	0.582													T	100511129	C	T	100511129	3	4	150	1	0	0	0	0	1	0	0	0	4803	759	27	1	2343	1	DRP2	23	100511129	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	29733622	100511129	54759431	110	10153											
COL4A5	1287	broad.mit.edu	37	chrX	107939578	107939578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacttgaggacacgaattagCcgatgtcaagtgtgcatgaa	13	9	12	7	2	1	2	1	2	0	0	1	6	1	3	1	1	2	1	1	1	4	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:107939578C>T	uc022ccg.1	+	52	5248	c.5046C>T	c.(5044-5046)agC>agT	p.S1682S	COL4A5_uc004enz.1_Silent_p.S1676S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	1676	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CACGAATTAGCCGATGTCAAG	0.348									Alport syndrome with Diffuse Leiomyomatosis				T	107939578	C	T	107939578	2	4	150	1	0	0	0	0	0	0	0	1	3725	738	26	2		2	COL4A5	23	107939578	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	7428449	107939578	47330982	111	10154											
LONRF3	79836	broad.mit.edu	37	chrX	118145848	118145848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttgtcccctgcacatcTttgagccttgttaccgcctg	4	15	7	15	1	1	1	0	1	1	0	3	1	3	1	6	0	3	2	6	0	1	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:118145848T>A	uc004eqw.3	+	7	1754	c.1723T>A	c.(1723-1725)Ttt>Att	p.F575I	LONRF3_uc004eqx.3_Missense_Mutation_p.F534I|LONRF3_uc004eqy.3_Non-coding_Transcript|LONRF3_uc004eqz.3_Missense_Mutation_p.F319I	NM_001031855	NP_001027026	Q496Y0	LONF3_HUMAN	Homo sapiens LON peptidase N-terminal domain and ring finger 3 (LONRF3), transcript variant 1, mRNA.	575	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CCTGCACATCTTTGAGCCTTG	0.478													A	118145848	T	A	118145848	3	1	150	1	0	0	0	0	1	0	0	0	8966	1609	56	5	1753	5	LONRF3	23	118145848	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	10206270	118145848	37124712	112	10155											
FAM70A	55026	broad.mit.edu	37	chrX	119410766	119410766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaaagcctccaaggacagCggcagtgatgatgcccagga	12	6	12	11	1	0	2	0	2	0	0	1	4	1	4	3	3	3	1	3	3	3	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:119410766C>T	uc004eso.4	-	7	948	c.721G>A	c.(721-723)Gct>Act	p.A241T	FAM70A_uc004esp.4_Missense_Mutation_p.A217T|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	241						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CCAAGGACAGCGGCAGTGATG	0.527													T	119410766	C	T	119410766	3	4	150	1	0	0	0	0	1	0	0	0	5655	768	27	1	340	1	FAM70A	23	119410766	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	1264918	119410766	35859794	113	10156											
GLUD2	2747	broad.mit.edu	37	chrX	120181970	120181970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccagcaccgcacGccctgcaagggaggtatccg	10	3	12	16	3	0	0	0	0	0	0	1	1	1	1	4	2	4	5	4	2	2	1			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:120181970G>A	uc004eto.3	+	0	509	c.432G>A	c.(430-432)acG>acA	p.T144T		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	144					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.R143C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGCACCGCACGCCCTGCAAGG	0.572													A	120181970	G	A	120181970	2	1	150	1	0	0	0	0	0	0	0	1	6533	1074	38	1		1	GLUD2	23	120181970	Silent	SNP	G	TCGA-16-1045-01B-01W-0611-08	771204	120181970	35088590	114	10157											
OCRL	4952	broad.mit.edu	37	chrX	128701326	128701326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtatgactctaaaacagaCcggtgggattccaggtaaag	15	8	11	7	1	1	2	0	1	1	1	2	3	2	3	2	3	1	2	2	3	6	4			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128701326C>A	uc004euq.3	+	13	1617	c.1452C>A	c.(1450-1452)gaC>gaA	p.D484E	OCRL_uc004eur.3_Missense_Mutation_p.D484E	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	484					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTAAAACAGACCGGTGGGATT	0.393													A	128701326	C	A	128701326	3	1	150	1	0	0	0	0	1	0	0	0	10899	506	18	4	1506	4	OCRL	23	128701326	Missense_Mutation	SNP	C	TCGA-16-1045-01B-01W-0611-08	8519356	128701326	26569234	115	10158											
XPNPEP2	7512	broad.mit.edu	37	chrX	128887224	128887224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcctcaaggccagccaCgtaagtccacgttcaggcag	9	6	10	16	2	2	0	2	0	0	0	4	0	4	0	5	2	1	3	5	2	2	2			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:128887224C>T	uc004eut.1	+	11	1351	c.1107_splice	c.e11+1	p.H369_splice		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	369					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCCAGCCACGTAAGTCCAC	0.537													T	128887224	C	T	128887224	2	4	150	1	0	0	0	0	0	0	0	1	17545	550	19	1		1	XPNPEP2	23	128887224	Silent	SNP	C	TCGA-16-1045-01B-01W-0611-08	185898	128887224	26383336	116	10159											
SAGE1	55511	broad.mit.edu	37	chrX	134989538	134989538	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaccgcaacctaataacgTattgtcaactgttcaaccag	14	9	5	13	2	2	0	2	0	0	0	2	0	2	0	4	0	5	3	4	0	7	5			TCGA-16-1045-01B-01W-0611-08	TCGA-16-1045-10B-01W-0611-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c92c1d87-0df9-4c5a-baef-2dd26ad6d75a	92b999aa-f557-4ff7-b5d3-81f6507f6ce1	g.chrX:134989538T>G	uc004ezh.3	+	8	1111	c.944T>G	c.(943-945)gTa>gGa	p.V315G	SAGE1_uc010nry.1_Missense_Mutation_p.V284G|SAGE1_uc011mvv.2_Intron	NM_018666	NP_061136	Q9NXZ1	SAGE1_HUMAN	Homo sapiens sarcoma antigen 1 (SAGE1), mRNA.	315										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CCTAATAACGTATTGTCAACT	0.408													G	134989538	T	G	134989538	3	3	150	1	0	0	0	0	1	0	0	0	13900	1638	57	5	974	5	SAGE1	23	134989538	Missense_Mutation	SNP	T	TCGA-16-1045-01B-01W-0611-08	6102314	134989538	20281022	117	10160											
KIAA1751	85452	broad.mit.edu	37	chr1	1902133	1902133	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctcctggcgccggcgctgGtggacaaggtgcctgaatgc	6	7	16	12	3	0	1	0	1	0	0	1	2	1	2	3	5	3	2	3	5	2	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:1902133G>A	uc001aim.1	-	9	1167	c.1011C>T	c.(1009-1011)caC>caT	p.H337H	KIAA1751_uc009vkz.1_Silent_p.H337H	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	337										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		GCCGGCGCTGGTGGACAAGGT	0.677													A	1902133	G	A	1902133	2	1	151	1	0	0	0	0	0	0	0	1	8314	1252	44	2		2	KIAA1751	1	1902133	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		1902133	247348488	1	10161											
CHD5	26038	broad.mit.edu	37	chr1	6195434	6195434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttccttggagatgtcaGcaaactcctccaggaagccc	9	9	10	13	0	2	1	1	0	1	1	5	3	5	2	4	3	3	1	4	3	2	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:6195434G>A	uc001amb.2	-	17	2837	c.2726C>T	c.(2725-2727)gCt>gTt	p.A909V	CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	909					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGAGATGTCAGCAAACTCCTC	0.602													A	6195434	G	A	6195434	3	1	151	1	0	0	0	0	1	0	0	0	3358	971	34	2	3234	2	CHD5	1	6195434	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4293301	6195434	243055187	2	10162											
ZMYM4	9202	broad.mit.edu	37	chr1	35836122	35836122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactgcttatcagaggaaaGggtctactcagctattctgc	12	11	9	9	0	4	1	2	0	2	1	4	2	4	2	0	2	5	2	0	2	5	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:35836122G>T	uc001byt.3	+	6	1155	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W	ZMYM4_uc009vuu.3_Missense_Mutation_p.G327W|ZMYM4_uc001byu.3_Missense_Mutation_p.G35W|ZMYM4_uc009vuv.3_Missense_Mutation_p.G98W|AF119915_uc001byv.2_5'Flank	NM_005095	NP_005086	Q5VZL5	ZMYM4_HUMAN	Homo sapiens zinc finger, MYM-type 4 (ZMYM4), mRNA.	359					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TCAGAGGAAAGGGTCTACTCA	0.483													T	35836122	G	T	35836122	3	4	151	1	0	0	0	0	1	0	0	0	17803	1000	35	4	1101	4	ZMYM4	1	35836122	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	29640688	35836122	213414499	3	10163											
EPS15	2060	broad.mit.edu	37	chr1	51869155	51869155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaacagctgtagtcaccTcattttcatcagtcacacca	12	11	5	13	0	5	0	5	0	0	0	5	0	5	0	2	0	2	3	2	0	2	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:51869155T>C	uc001csq.1	-	16	1819	c.1727A>G	c.(1726-1728)gAg>gGg	p.E576G	EPS15_uc009vyz.1_Missense_Mutation_p.E442G|EPS15_uc001csp.3_Missense_Mutation_p.E262G	NM_001981	NP_001972	P42566	EPS15_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15 (EPS15), transcript variant 1, mRNA.	576					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						TGTAGTCACCTCATTTTCATC	0.338			T	MLL	ALL								C	51869155	T	C	51869155	3	2	151	1	0	0	0	0	1	0	0	0	5233	1551	54	3	999	3	EPS15	1	51869155	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	16033033	51869155	197381466	4	10164											
ECHDC2	55268	broad.mit.edu	37	chr1	53370462	53370462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtgaagatgagctccttCgccagggccacccccagaca	9	5	10	17	2	0	4	0	2	0	2	2	4	1	4	6	1	1	1	6	1	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:53370462C>T	uc001cup.4	-	6	804	c.558G>A	c.(556-558)gcG>gcA	p.A186A	ECHDC2_uc001cun.3_Silent_p.A109A|ECHDC2_uc001cuo.4_Silent_p.A155A|ECHDC2_uc021onl.1_Silent_p.A155A|ECHDC2_uc010onk.2_Silent_p.A140A	NM_001198961	NP_001185890	Q86YB7	ECHD2_HUMAN	Homo sapiens enoyl CoA hydratase domain containing 2 (ECHDC2), transcript variant 1, mRNA.	186					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						TGAGCTCCTTCGCCAGGGCCA	0.642													T	53370462	C	T	53370462	2	4	151	1	0	0	0	0	0	0	0	1	4933	871	31	1		1	ECHDC2	1	53370462	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	1501307	53370462	195880159	5	10165											
AMY2B	280	broad.mit.edu	37	chr1	104115707	104115710	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															tcgtatttatgtggatgctgTaattaatcatatgtctggta																										TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:104115707_104115710delTAAT	uc010ouo.2	+	14	2042_2045	c.338_341delTAAT	c.(337-342)gtaattfs	p.V113fs	AMY2B_uc001duq.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dur.3_Frame_Shift_Del_p.V113fs|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	113					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GTGGATGCTGTAATTAATCATATG	0.387													-	104115710	TAAT	-	104115707	7	5	151	1	0	1	0	1	0	0	0	0	595	1638	57	0	348	0	AMY2B	1	104115707	Frame_Shift_Del	DEL	TAAT	TCGA-16-1048-01B-01D-1353-08	50745245	104115707	145134914	6	10166											
TXNIP	10628	broad.mit.edu	37	chr1	145439050	145439050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctggaagaccagccaaCaggtaagcggcccaattcat	12	8	9	12	1	3	1	1	0	2	1	3	2	3	2	3	3	3	1	3	3	4	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:145439050C>A	uc001enn.4	+	0	589	c.248C>A	c.(247-249)aCa>aAa	p.T83K	TXNIP_uc010oys.2_5'Flank	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	83					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCAGCCAACAGGTAAGCGG	0.463													A	145439050	C	A	145439050	3	1	151	1	0	0	0	0	1	0	0	0	16905	478	17	4	250	4	TXNIP	1	145439050	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	41323343	145439050	103811571	7	10167											
OR6K2	81448	broad.mit.edu	37	chr1	158669789	158669789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccacaataccatcgtaGgacatgaagatgagcatcac	16	6	8	11	1	1	3	1	2	0	1	2	4	1	4	2	1	3	2	2	1	4	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:158669789G>A	uc001fsu.1	-	0	654	c.654C>T	c.(652-654)tcC>tcT	p.S218S		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					TACCATCGTAGGACATGAAGA	0.478													A	158669789	G	A	158669789	2	1	151	1	0	0	0	0	0	0	0	1	11278	987	35	2		2	OR6K2	1	158669789	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	13230739	158669789	90580832	8	10168											
CNTN2	6900	broad.mit.edu	37	chr1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagaacatggcagtcCgcccagcaccacaccctggc	9	5	12	15	1	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr1:205042816C>T	uc001hbr.3	+	22	3315	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C	CNTN2_uc001hbs.3_Missense_Mutation_p.R804C	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	1016					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607													T	205042816	C	T	205042816	3	4	151	1	0	0	0	0	1	0	0	0	3672	652	23	1	3132	1	CNTN2	1	205042816	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	46373027	205042816	44207805	9	10169											
EHD3	30845	broad.mit.edu	37	chr2	31483729	31483729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagggacatccagagtctgCcccgaaatgctgccctgcgc	8	7	11	15	2	2	1	1	0	1	1	3	3	3	2	4	1	4	1	4	1	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:31483729C>T	uc002rnu.3	+	3	1464	c.856C>T	c.(856-858)Ccc>Tcc	p.P286S	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	286					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding	p.P286P(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CCAGAGTCTGCCCCGAAATGC	0.622													T	31483729	C	T	31483729	3	4	151	1	0	0	0	0	1	0	0	0	5018	739	26	2	870	2	EHD3	2	31483729	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		31483729	211715644	10	10170											
BIRC6	57448	broad.mit.edu	37	chr2	32727897	32727897	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccagttatctgagccattAttgtggttcattttgagagt	8	17	10	6	0	2	2	1	2	1	1	2	3	2	2	2	1	2	2	2	1	2	6			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:32727897A>T	uc010ezu.3	+	47	9377	c.9243A>T	c.(9241-9243)ttA>ttT	p.L3081F		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	3081					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTGAGCCATTATTGTGGTTCA	0.313													T	32727897	A	T	32727897	3	4	151	1	0	0	0	0	1	0	0	0	1444	446	16	5	9433	5	BIRC6	2	32727897	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	1244168	32727897	210471476	11	10171											
SLC4A5	57835	broad.mit.edu	37	chr2	74477637	74477637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatccagacacaggccacCgaagaacctgctcaagacag	15	4	9	13	1	1	3	1	0	0	3	2	5	2	3	4	1	2	1	4	1	4	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:74477637C>T	uc002sko.1	-	11	1488	c.1486G>A	c.(1486-1488)Ggt>Agt	p.G496S	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.G496S|SLC4A5_uc010ffc.1_Missense_Mutation_p.G496S|SLC4A5_uc002skp.1_Missense_Mutation_p.G432S|SLC4A5_uc002sks.1_Missense_Mutation_p.G496S	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	496	Gly-rich.					apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						CACAGGCCACCGAAGAACCTG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74477637	C	T	74477637	3	4	151	1	0	0	0	0	1	0	0	0	14751	652	23	1	1987	1	SLC4A5	2	74477637	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	41749740	74477637	168721736	12	10172											
IL18RAP	8807	broad.mit.edu	37	chr2	103040791	103040791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcacataagcaagacctaCttcttgggagcactggctct	11	10	8	12	0	3	1	1	0	2	1	3	2	3	2	1	2	3	3	1	2	3	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:103040791C>T	uc002tbx.3	+	4	980	c.496C>T	c.(496-498)Ctt>Ttt	p.L166F	IL18RAP_uc010fiz.3_Missense_Mutation_p.L24F	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	166	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						gcaagacctacttcttgggag	0.468													T	103040791	C	T	103040791	3	4	151	1	0	0	0	0	1	0	0	0	7706	565	20	2	506	2	IL18RAP	2	103040791	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	28563154	103040791	140158582	13	10173											
TMEM87B	84910	broad.mit.edu	37	chr2	112865416	112865416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcttcattcacagatGtgtaagttatcttctgttac	8	18	5	10	0	5	1	2	0	3	1	6	1	6	1	1	0	1	3	1	0	3	7			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:112865416G>A	uc002thm.2	+	17	1946	c.1577_splice	c.e17+1	p.V526_splice		NM_032824	NP_116213	Q96K49	TM87B_HUMAN	Homo sapiens transmembrane protein 87B (TMEM87B), mRNA.	526						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						ATTCACAGATGTGTAAGTTAT	0.343													A	112865416	G	A	112865416	3	1	151	1	0	0	0	0	1	0	0	0	16311	1391	48	2	1642	2	TMEM87B	2	112865416	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	9824625	112865416	130333957	14	10174											
GCG	2641	broad.mit.edu	37	chr2	163005628	163005628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtgtcttgaagggaacGttgccagctgccttgtacca	7	12	11	11	1	2	1	0	1	2	0	2	2	2	2	3	1	5	3	3	1	3	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:163005628G>A	uc002ucc.3	-	1	317	c.61C>T	c.(61-63)Cgt>Tgt	p.R21C		NM_002054	NP_002045	P01275	GLUC_HUMAN	Homo sapiens glucagon (GCG), mRNA.	21					cell proliferation|cellular response to glucagon stimulus|energy reserve metabolic process|feeding behavior|regulation of insulin secretion	plasma membrane|soluble fraction	hormone activity			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(9)	14					Exenatide(DB01276)|Phentolamine(DB00692)	TGAAGGGAACGTTGCCAGCTG	0.413													A	163005628	G	A	163005628	3	1	151	1	0	0	0	0	1	0	0	0	6344	1145	40	1	501	1	GCG	2	163005628	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	50140212	163005628	80193745	15	10175											
MYO3B	140469	broad.mit.edu	37	chr2	171243715	171243715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatgacaactcgagccgtTttggaaaatatctggaaatg	14	11	9	7	2	2	1	1	1	1	0	3	4	2	3	1	2	2	1	1	2	6	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:171243715T>C	uc002ufy.3	+	13	1617	c.1474T>C	c.(1474-1476)Ttt>Ctt	p.F492L	MYO3B_uc002ufv.3_Missense_Mutation_p.F479L|MYO3B_uc010fqb.1_Missense_Mutation_p.F492L|MYO3B_uc002ufz.3_Missense_Mutation_p.F492L|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Non-coding_Transcript|MYO3B_uc002ugb.3_Non-coding_Transcript	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	492	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						CTCGAGCCGTTTTGGAAAATA	0.433													C	171243715	T	C	171243715	3	2	151	1	0	0	0	0	1	0	0	0	10153	1841	64	3	1528	3	MYO3B	2	171243715	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	8238087	171243715	71955658	16	10176											
ITGA4	3676	broad.mit.edu	37	chr2	182358131	182358131	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgcagatgggatctcGtcaaccttctcacaggtaag	9	9	12	11	2	3	1	2	0	2	1	5	2	3	2	2	3	2	2	2	3	2	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:182358131G>A	uc002unu.3	+	10	1996	c.1233G>A	c.(1231-1233)tcG>tcA	p.S411S		NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	411					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	ATGGGATCTCGTCAACCTTCT	0.368													A	182358131	G	A	182358131	2	1	151	1	0	0	0	0	0	0	0	1	7936	1132	40	1		1	ITGA4	2	182358131	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	11114416	182358131	60841242	17	10177											
MYO1B	4430	broad.mit.edu	37	chr2	192141643	192141643	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccaaaatggaggtgaaaAcctcacttctggacaatatg	14	9	10	8	0	2	1	1	1	1	0	2	3	2	3	2	4	1	0	2	4	6	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:192141643A>T	uc010fsg.2	+	1	277	c.22A>T	c.(22-24)Acc>Tcc	p.T8S	MYO1B_uc002usq.2_Missense_Mutation_p.T8S|MYO1B_uc002usr.2_Missense_Mutation_p.T8S|MYO1B_uc002uss.1_Missense_Mutation_p.T8S	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	8						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGAGGTGAAAACCTCACTTCT	0.433													T	192141643	A	T	192141643	3	4	151	1	0	0	0	0	1	0	0	0	10145	43	2	5	24	5	MYO1B	2	192141643	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	9783512	192141643	51057730	18	10178											
SLC19A3	80704	broad.mit.edu	37	chr2	228560683	228560683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgcccagatattggctgtgTaatgcatgagaaataaagaa	16	9	10	6	1	0	3	0	1	0	3	0	4	0	3	1	1	1	3	1	1	6	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:228560683T>C	uc002vpi.3	-	3	1183	c.1094A>G	c.(1093-1095)tAc>tGc	p.Y365C	SLC19A3_uc002vpj.3_Non-coding_Transcript|SLC19A3_uc010zlv.1_Missense_Mutation_p.Y361C	NM_025243	NP_079519	Q9BZV2	S19A3_HUMAN	Homo sapiens solute carrier family 19, member 3 (SLC19A3), mRNA.	365					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	p.Y365H(1)		breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	ATTGGCTGTGTAATGCATGAG	0.443													C	228560683	T	C	228560683	3	2	151	1	0	0	0	0	1	0	0	0	14524	1638	57	3	408	3	SLC19A3	2	228560683	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	36419040	228560683	14638690	19	10179											
CHRND	1144	broad.mit.edu	37	chr2	233394760	233394760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctacctcatcatccgccGcaagcccctcttctacatca	8	11	3	19	2	6	0	3	0	3	0	7	0	7	0	5	0	3	1	5	0	3	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:233394760G>A	uc002vsw.3	+	6	735	c.731G>A	c.(730-732)cGc>cAc	p.R244H	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.R229H|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	244					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity	p.R243H(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		ATCATCCGCCGCAAGCCCCTC	0.607													A	233394760	G	A	233394760	3	1	151	1	0	0	0	0	1	0	0	0	3424	1087	38	1	757	1	CHRND	2	233394760	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4834077	233394760	9804613	20	10180											
SNED1	25992	broad.mit.edu	37	chr2	242004746	242004746	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgacggccctcaagatggaGagagtggaggagagtggggt	10	5	19	7	2	1	3	1	0	0	3	1	8	1	5	2	6	0	0	2	6	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr2:242004746G>A	uc002wah.1	+	20	2745	c.2745G>A	c.(2743-2745)gaG>gaA	p.E915E	SNED1_uc002wai.1_Silent_p.E150E|SNED1_uc002waj.1_Silent_p.E2E|SNED1_uc002wak.3_Silent_p.E2E	NM_001080437	NP_001073906	Q8TER0	SNED1_HUMAN	Homo sapiens sushi, nidogen and EGF-like domains 1 (SNED1), mRNA.	915	Fibronectin type-III 1.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		TCAAGATGGAGAGAGTGGAGG	0.607													A	242004746	G	A	242004746	2	1	151	1	0	0	0	0	0	0	0	1	14939	933	33	2		2	SNED1	2	242004746	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	8609986	242004746	1194627	21	10181											
SLC4A7	9497	broad.mit.edu	37	chr3	27478926	27478926	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccatctctgtaacacagTtcatccatttccgtgaagag	10	13	6	12	1	3	2	1	1	2	1	7	2	5	2	3	0	1	2	3	0	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:27478926T>G	uc011aww.2	-	3	602	c.381A>C	c.(379-381)gaA>gaC	p.E127D	SLC4A7_uc011awx.2_Missense_Mutation_p.E127D|SLC4A7_uc021wun.1_Missense_Mutation_p.E127D|SLC4A7_uc021wuo.1_Non-coding_Transcript|SLC4A7_uc011awy.2_Missense_Mutation_p.E123D|SLC4A7_uc011awz.2_Non-coding_Transcript|SLC4A7_uc011axa.2_Missense_Mutation_p.E123D|SLC4A7_uc011axb.2_Missense_Mutation_p.E127D|SLC4A7_uc021wul.1_Non-coding_Transcript|SLC4A7_uc011awu.2_Non-coding_Transcript|SLC4A7_uc011awv.2_Non-coding_Transcript|SLC4A7_uc021wum.1_Non-coding_Transcript|SLC4A7_uc003cdu.4_Missense_Mutation_p.E123D|SLC4A7_uc010hfm.2_Missense_Mutation_p.E123D|SLC4A7_uc003cdv.3_Missense_Mutation_p.E118D|SLC4A7_uc003cdw.3_Missense_Mutation_p.E118D	NM_003615	NP_003606	Q9Y6M7	S4A7_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 7 (SLC4A7), mRNA.	118						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						TGTAACACAGTTCATCCATTT	0.373													G	27478926	T	G	27478926	3	3	151	1	0	0	0	0	1	0	0	0	14752	1722	60	5	3378	5	SLC4A7	3	27478926	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08		27478926	170543504	22	10182											
COL6A5	256076	broad.mit.edu	37	chr3	130159541	130159541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttctctgggctctacacGtaaggatgacatggaggagt	10	11	13	7	1	2	1	0	1	2	0	3	5	2	4	0	4	1	2	0	4	2	3	rs146634521	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:130159541G>A	uc010htj.1	+	34	6853	c.6359G>A	c.(6358-6360)cGt>cAt	p.R2120H	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.R159H|COL6A5_uc010htk.1_Missense_Mutation_p.R159H	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2120	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GGCTCTACACGTAAGGATGAC	0.408													A	130159541	G	A	130159541	3	1	151	1	0	0	0	0	1	0	0	0	3733	1145	40	1	6493	1	COL6A5	3	130159541	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	102680615	130159541	67862889	23	10183											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr3:178917478G>A	uc003fjk.3	+	3	510	c.353_splice	c.e3-1	p.G118_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	3	1	151	1	0	0	0	0	1	0	0	0	11990	1275	44	2	359	2	PIK3CA	3	178917478	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	48757937	178917478	19104952	24	10184											
GABRA4	2557	broad.mit.edu	37	chr4	46930475	46930475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtcttgatccaaacaCgtgacgagtagaagcagatc	13	8	10	10	2	1	4	0	2	1	2	3	5	2	4	1	0	3	3	1	0	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:46930475C>T	uc003gxg.3	-	8	2415	c.1432G>A	c.(1432-1434)Gtg>Atg	p.V478M	GABRA4_uc021xnz.1_Missense_Mutation_p.V459M|GABRA4_uc021xoa.1_Missense_Mutation_p.V408M	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	478					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GATCCAAACACGTGACGAGTA	0.488													T	46930475	C	T	46930475	3	4	151	1	0	0	0	0	1	0	0	0	6215	536	19	1	236	1	GABRA4	4	46930475	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		46930475	144223801	25	10185											
SEC24B	10427	broad.mit.edu	37	chr4	110384778	110384778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggatccctggctgtagcGaacaacaacccaaccattac	14	6	7	14	1	0	0	0	0	0	0	1	2	1	1	3	2	6	2	3	2	6	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:110384778G>A	uc003hzk.3	+	1	910	c.855G>A	c.(853-855)gcG>gcA	p.A285A	SEC24B_uc003hzl.3_Silent_p.A285A|SEC24B_uc011cfp.2_Silent_p.A316A|SEC24B_uc011cfq.2_Silent_p.A285A|SEC24B_uc011cfr.2_Silent_p.A285A	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	285					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TGGCTGTAGCGAACAACAACC	0.413													A	110384778	G	A	110384778	2	1	151	1	0	0	0	0	0	0	0	1	14088	1045	37	1		1	SEC24B	4	110384778	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	63454303	110384778	80769498	26	10186											
NAF1	92345	broad.mit.edu	37	chr4	164050096	164050096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actatctccagaagagggtgGaggaggcagtggtggagggg	10	6	20	5	0	1	2	0	0	1	2	2	5	1	5	1	8	0	1	1	8	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:164050096G>C	uc003iqj.3	-	7	1632	c.1438C>G	c.(1438-1440)Cca>Gca	p.P480A	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	480	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAgagggtggaggaggcagt	0.458													C	164050096	G	C	164050096	3	2	151	1	0	0	0	0	1	0	0	0	10216	1174	41	4	191	4	NAF1	4	164050096	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	53665318	164050096	27104180	27	10187											
PALLD	23022	broad.mit.edu	37	chr4	169433085	169433085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgaaaggctgaaaagcgtGgtgcaaaaactcccagcaca	15	5	10	11	2	0	1	0	1	0	0	2	2	2	1	2	2	4	3	2	2	5	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:169433085G>A	uc011cjx.2	+	1	641	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	PALLD_uc003iru.3_Missense_Mutation_p.G144S	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	144					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding	p.G144R(2)		breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TGAAAAGCGTGGTGCAAAAAC	0.512									Pancreatic Cancer, Familial Clustering of				A	169433085	G	A	169433085	3	1	151	1	0	0	0	0	1	0	0	0	11483	1348	47	2	432	2	PALLD	4	169433085	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	5382989	169433085	21721191	28	10188											
LRP2BP	55805	broad.mit.edu	37	chr4	186299262	186299262	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctttttccactggaaaaAtttttggtttttagcagcat	9	19	6	7	0	0	0	0	0	0	0	2	1	2	1	2	2	2	3	2	2	3	8			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr4:186299262A>C	uc003ixj.2	-	0	891	c.79T>G	c.(79-81)Ttt>Gtt	p.F27V	LRP2BP_uc003ixk.2_5'UTR|LRP2BP_uc021xvi.1_Non-coding_Transcript	NM_018409	NP_060879	Q9P2M1	LR2BP_HUMAN	Homo sapiens LRP2 binding protein (LRP2BP), mRNA.	27						cytoplasm	protein binding	p.F27F(1)		breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		CACTGGAAAAATTTTTGGTTT	0.378													C	186299262	A	C	186299262	3	2	151	1	0	0	0	0	1	0	0	0	9027	101	4	5	996	5	LRP2BP	4	186299262	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	16866177	186299262	4855014	29	10189											
MARVELD2	153562	broad.mit.edu	37	chr5	68737366	68737366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcttttacaggatcctaCatttctggaaaaaaaagaac	16	13	5	7	0	2	1	0	0	2	1	3	3	3	3	1	2	3	0	1	2	7	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:68737366C>T	uc003jwq.3	+	6	1636	c.1562C>T	c.(1561-1563)aCa>aTa	p.T521I	MARVELD2_uc010ixf.3_Missense_Mutation_p.T509I|MARVELD2_uc003jws.1_Non-coding_Transcript	NM_001038603	NP_001033692	Q8N4S9	MALD2_HUMAN	Homo sapiens MARVEL domain containing 2 (MARVELD2), transcript variant 1, mRNA.	521					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CAGGATCCTACATTTCTGGAA	0.318													T	68737366	C	T	68737366	3	4	151	1	0	0	0	0	1	0	0	0	9393	478	17	2	1584	2	MARVELD2	5	68737366	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		68737366	112177894	30	10190											
FBN2	2201	broad.mit.edu	37	chr5	127728993	127728993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcccccagtgcctccagGtctggaaccagcactccctg	7	9	8	17	0	1	0	0	0	1	0	4	1	4	1	6	2	3	1	6	2	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:127728993G>T	uc003kuu.3	-	9	1739	c.1300C>A	c.(1300-1302)Cct>Act	p.P434T	FBN2_uc003kuv.2_Missense_Mutation_p.P401T	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	434					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GTGCCTCCAGGTCTGGAACCA	0.532													T	127728993	G	T	127728993	3	4	151	1	0	0	0	0	1	0	0	0	5752	1261	44	4	7662	4	FBN2	5	127728993	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	58991627	127728993	53186267	31	10191											
PDLIM4	8572	broad.mit.edu	37	chr5	131607724	131607724	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccccccatcaggggcacCatcgtcaaggcacgggacaa	10	5	11	15	2	2	0	2	0	0	0	4	1	3	1	4	4	0	3	4	4	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:131607724C>G	uc003kwo.3	+	5	1196	c.1119C>G	c.(1117-1119)acC>acG	p.T373T	BC030525_uc003kwm.4_Intron|PDLIM4_uc003kwn.3_Silent_p.T265T|PDLIM4_uc003kwp.3_Missense_Mutation_p.P226R	NM_003687	NP_003678	P50479	PDLI4_HUMAN	Homo sapiens PDZ and LIM domain 4 (PDLIM4), transcript variant 1, mRNA.	265							protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|urinary_tract(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAGGGGCACCATCGTCAAGG	0.617													G	131607724	C	G	131607724	2	3	151	1	0	0	0	0	0	0	0	1	11758	594	21	4		4	PDLIM4	5	131607724	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	3878731	131607724	49307536	32	10192											
PCDHGC5	9708	broad.mit.edu	37	chr5	140774290	140774290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccctgctggacagagatgCgctcaagcagagcctcgtgg	9	6	14	12	2	1	2	1	0	0	2	2	4	1	3	2	2	5	3	2	2	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr5:140774290C>T	uc003lkd.2	+	0	2808	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.A637V|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	639	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A637E(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCGCTCAAGCAG	0.682													T	140774290	C	T	140774290	3	4	151	1	0	0	0	0	1	0	0	0	11647	768	27	1		1	PCDHGC5	5	140774290	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	9166566	140774290	40140970	33	10193											
DSP	1832	broad.mit.edu	37	chr6	7580369	7580369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaagcagtccctggaggagGctgccaagaccattcaggac	12	5	12	12	0	1	1	1	0	0	1	2	4	2	4	3	4	2	2	3	4	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:7580369G>A	uc003mxp.1	+	22	4225	c.3946G>A	c.(3946-3948)Gct>Act	p.A1316T	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Missense_Mutation_p.A1316T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1316	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTGGAGGAGGCTGCCAAGAC	0.512													A	7580369	G	A	7580369	3	1	151	1	0	0	0	0	1	0	0	0	4820	1203	42	2	4036	2	DSP	6	7580369	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		7580369	163534698	34	10194											
COL11A2	1302	broad.mit.edu	37	chr6	33137189	33137189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggccatcatcgcctgTggggcctttaggccctggtg	3	12	15	11	1	1	0	1	0	0	0	2	0	1	0	4	6	0	0	4	6	1	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:33137189T>C	uc003ocx.1	-	50	3997	c.3769A>G	c.(3769-3771)Aca>Gca	p.T1257A	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.T1171A|COL11A2_uc003ocz.1_Missense_Mutation_p.T1150A	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1257	Triple-helical region.			T -> Q (in Ref. 1; AAC50213/AAC50214/ AAC50215 and 6; AAA52034).	cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TCATCGCCTGTGGGGCCTTTA	0.627													C	33137189	T	C	33137189	3	2	151	1	0	0	0	0	1	0	0	0	3699	1696	59	3	1505	3	COL11A2	6	33137189	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	25556820	33137189	137977878	35	10195											
KCNK17	89822	broad.mit.edu	37	chr6	39272395	39272395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagatgcagaagaggCgggcagccatcgtgttgggg	12	5	17	7	2	0	4	0	0	0	4	1	4	0	4	1	4	2	3	1	4	3	1	rs142227833		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:39272395C>T	uc003ooo.3	-	2	530	c.389G>A	c.(388-390)cGc>cAc	p.R130H	KCNK17_uc003oop.3_Missense_Mutation_p.R130H	NM_031460	NP_113648	Q96T54	KCNKH_HUMAN	Homo sapiens potassium channel, subfamily K, member 17 (KCNK17), transcript variant 1, mRNA.	130						integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.R130L(3)		endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)	14						GCAGAAGAGGCGGGCAGCCAT	0.612													T	39272395	C	T	39272395	3	4	151	1	0	0	0	0	1	0	0	0	8122	768	27	1	753	1	KCNK17	6	39272395	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	6135206	39272395	131842672	36	10196											
PTK7	5754	broad.mit.edu	37	chr6	43109453	43109453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacaacgctgggaccctgCattttgcccgggtgactcga	8	8	12	13	3	0	2	0	1	0	1	1	4	0	3	2	2	3	2	2	2	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:43109453C>T	uc011dve.1	+	10	1732	c.1690C>T	c.(1690-1692)Cat>Tat	p.H564Y	PTK7_uc003oub.1_Missense_Mutation_p.H556Y|PTK7_uc003ouc.1_Missense_Mutation_p.H556Y|PTK7_uc003oud.1_Missense_Mutation_p.H516Y|PTK7_uc003oue.1_Missense_Mutation_p.H426Y|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	556	Ig-like C2-type 6.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			TGGGACCCTGCATTTTGCCCG	0.582													T	43109453	C	T	43109453	3	4	151	1	0	0	0	0	1	0	0	0	12851	710	25	2	1708	2	PTK7	6	43109453	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	3837058	43109453	128005614	37	10197											
TINAG	27283	broad.mit.edu	37	chr6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaagatggttttaaatttCgccttggcactttgccacct	9	15	8	9	1	0	2	0	0	0	2	1	2	0	2	3	2	1	2	3	2	4	6	rs115438249	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54191661C>T	uc003pcj.2	+	3	717	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(2)|p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373													T	54191661	C	T	54191661	3	4	151	1	0	0	0	0	1	0	0	0	16021	884	31	1	585	1	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	11082208	54191661	116923406	38	10198											
TINAG	27283	broad.mit.edu	37	chr6	54254704	54254704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcttggggccaactgaCgagttctgatgaaccataac	11	8	11	11	2	1	3	0	3	1	0	1	4	1	3	2	2	4	3	2	2	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:54254704C>T	uc003pcj.2	+	10	1558	c.1412C>T	c.(1411-1413)aCg>aTg	p.T471M	TINAG_uc010jzt.2_Non-coding_Transcript	NM_014464	NP_055279	Q9UJW2	TINAG_HUMAN	Homo sapiens tubulointerstitial nephritis antigen (TINAG), mRNA.	471					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GGCCAACTGACGAGTTCTGAT	0.403													T	54254704	C	T	54254704	3	4	151	1	0	0	0	0	1	0	0	0	16021	536	19	1	1454	1	TINAG	6	54254704	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	63043	54254704	116860363	39	10199											
RIMS1	22999	broad.mit.edu	37	chr6	72993805	72993805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagactaggaaaggcactGcctctgatgcagaaaggtag	15	6	12	8	0	1	3	0	1	1	2	1	4	1	4	1	3	3	3	1	3	5	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:72993805G>T	uc003pga.3	+	23	3615	c.3538G>T	c.(3538-3540)Gcc>Tcc	p.A1180S	RIMS1_uc011dyb.2_Intron|RIMS1_uc003pgc.3_Intron|RIMS1_uc010kaq.3_Missense_Mutation_p.A561S|RIMS1_uc011dyc.2_Intron|RIMS1_uc010kar.3_Missense_Mutation_p.A481S|RIMS1_uc011dyd.2_Missense_Mutation_p.A547S|RIMS1_uc003pge.3_Intron|RIMS1_uc003pgf.3_Intron|RIMS1_uc003pgi.3_Intron|RIMS1_uc003pgg.3_Intron|RIMS1_uc003pgh.3_Intron|RIMS1_uc003pgd.3_Intron|RIMS1_uc011dye.2_Missense_Mutation_p.A37S|RIMS1_uc011dyf.2_Missense_Mutation_p.A37S	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	1180					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				GAAAGGCACTGCCTCTGATGC	0.398													T	72993805	G	T	72993805	3	4	151	1	0	0	0	0	1	0	0	0	13458	1319	46	4	3795	4	RIMS1	6	72993805	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	18739101	72993805	98121262	40	10200											
MAP3K7	6885	broad.mit.edu	37	chr6	91226312	91226312	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaaggcttttgttttCatctaaaagctttttatgtt	11	19	7	4	0	2	1	1	0	1	1	2	1	2	1	0	1	1	5	0	1	5	10			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:91226312C>A	uc003pnz.1	-	16	2034	c.1729G>T	c.(1729-1731)Gaa>Taa	p.E577*	MAP3K7_uc003pny.1_Nonsense_Mutation_p.E114*|MAP3K7_uc003pob.1_Nonsense_Mutation_p.E550*|MAP3K7_uc003poa.1_3'UTR|MAP3K7_uc003poc.1_3'UTR	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	577					activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTTTTGTTTTCATCTAAAAGC	0.408													A	91226312	C	A	91226312	4	1	151	1	0	0	0	0	0	1	0	0	9330	835	29	4	95	4	MAP3K7	6	91226312	Nonsense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	18232507	91226312	79888755	41	10201											
LAMA4	3910	broad.mit.edu	37	chr6	112496666	112496666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttccccataatagagCatcttgttgttgatctctga	8	16	7	10	0	3	3	0	2	3	1	5	3	4	3	2	0	2	4	2	0	2	6			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:112496666C>A	uc003pvu.2	-	10	1515	c.1206G>T	c.(1204-1206)atG>atT	p.M402I	LAMA4_uc003pvv.2_Missense_Mutation_p.M395I|LAMA4_uc003pvt.2_Missense_Mutation_p.M395I	NM_001105206	NP_001098676	Q16363	LAMA4_HUMAN	Homo sapiens laminin, alpha 4 (LAMA4), transcript variant 1, mRNA.	402	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CATAATAGAGCATCTTGTTGT	0.483													A	112496666	C	A	112496666	3	1	151	1	0	0	0	0	1	0	0	0	8667	710	25	4	4381	4	LAMA4	6	112496666	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	21270354	112496666	58618401	42	10202											
DSE	29940	broad.mit.edu	37	chr6	116757126	116757126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagctgcttttctccctggGtgggtcaggtcacagaagac	8	10	13	10	0	3	3	2	0	1	3	4	3	3	3	1	3	2	2	1	3	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr6:116757126G>A	uc011ebg.2	+	5	1651	c.1552G>A	c.(1552-1554)Gtg>Atg	p.V518M	DSE_uc003pws.3_Missense_Mutation_p.V499M|DSE_uc003pwt.3_Missense_Mutation_p.V499M|DSE_uc003pwu.3_Missense_Mutation_p.V166M	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	499					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TTCTCCCTGGGTGGGTCAGGT	0.483													A	116757126	G	A	116757126	3	1	151	1	0	0	0	0	1	0	0	0	4813	1261	44	2	1513	2	DSE	6	116757126	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4260460	116757126	54357941	43	10203											
COL28A1	340267	broad.mit.edu	37	chr7	7412801	7412801	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacctctgtcagtttctcTttatcacgagaatctgtctg	8	15	6	12	1	6	1	2	0	4	1	7	2	6	1	2	0	0	1	2	0	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:7412801T>C	uc003src.1	-	31	2853	c.2736A>G	c.(2734-2736)aaA>aaG	p.K912K	COL28A1_uc011jxe.1_Silent_p.K595K	NM_001037763	NP_001032852	Q2UY09	COSA1_HUMAN	Homo sapiens collagen, type XXVIII, alpha 1 (COL28A1), mRNA.	912	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCAGTTTCTCTTTATCACGAG	0.443													C	7412801	T	C	7412801	2	2	151	1	0	0	0	0	0	0	0	1	3717	1606	56	3		3	COL28A1	7	7412801	Silent	SNP	T	TCGA-16-1048-01B-01D-1353-08		7412801	151725862	44	10204											
C7orf57	136288	broad.mit.edu	37	chr7	48081010	48081010	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagatcccaggtctcagCaatttgggagactcacacag	11	8	9	13	0	2	2	2	0	1	2	5	3	4	2	2	2	1	1	2	2	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:48081010C>G	uc003toh.4	+	2	347	c.135C>G	c.(133-135)agC>agG	p.S45R	C7orf57_uc003toi.4_5'UTR	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	45										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						CAGGTCTCAGCAATTTGGGAG	0.537													G	48081010	C	G	48081010	3	3	151	1	0	0	0	0	1	0	0	0	2428	709	25	4	141	4	C7orf57	7	48081010	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	40668209	48081010	111057653	45	10205											
EGFR	1956	broad.mit.edu	37	chr7	55221716	55221716	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccataggtctgccgcaaaTtccgagacgaagccacgtgc	10	7	10	14	4	1	1	0	0	1	1	3	3	3	1	4	1	3	1	4	1	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:55221716T>A	uc003tqk.3	+	6	1006	c.760T>A	c.(760-762)Ttc>Atc	p.F254I	EGFR_uc003tqh.3_Missense_Mutation_p.F254I|EGFR_uc003tqi.3_Missense_Mutation_p.F254I|EGFR_uc003tqj.3_Missense_Mutation_p.F254I|EGFR_uc022adm.1_Missense_Mutation_p.F254I|EGFR_uc010kzg.2_Missense_Mutation_p.F209I|EGFR_uc022adn.1_Missense_Mutation_p.F209I|EGFR_uc011kco.2_Missense_Mutation_p.F201I|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	254					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.F254F(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGCCGCAAATTCCGAGACGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221716	T	A	55221716	3	1	151	1	0	0	0	0	1	0	0	0	5006	1493	52	5	786	5	EGFR	7	55221716	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	7140706	55221716	103916947	46	10206											
WBSCR17	64409	broad.mit.edu	37	chr7	71135089	71135089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaataataccgttgcttacGgggaggtaattcagaccgtg	12	10	11	8	3	1	1	1	0	0	1	1	2	1	2	2	3	3	3	2	3	5	6			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:71135089G>A	uc003tvy.3	+	7	1399	c.1399G>A	c.(1399-1401)Ggg>Agg	p.G467R	WBSCR17_uc003tvz.3_Missense_Mutation_p.G166R	NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	467	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CGTTGCTTACGGGGAGGTAAT	0.413													A	71135089	G	A	71135089	3	1	151	1	0	0	0	0	1	0	0	0	17366	1116	39	1	1429	1	WBSCR17	7	71135089	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	15913373	71135089	88003574	47	10207											
SAMD9	54809	broad.mit.edu	37	chr7	92733048	92733048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggtacgtattcctgaCggttcattgccccataggtg	8	12	11	10	2	1	1	1	1	0	0	2	1	2	1	3	3	3	4	3	3	4	7			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:92733048C>T	uc003umf.3	-	2	2633	c.2363G>A	c.(2362-2364)cGt>cAt	p.R788H	SAMD9_uc003umg.3_Missense_Mutation_p.R788H|SAMD9_uc022ahg.1_Missense_Mutation_p.R788H	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	788						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GTATTCCTGACGGTTCATTGC	0.378													T	92733048	C	T	92733048	3	4	151	1	0	0	0	0	1	0	0	0	13917	536	19	1	2410	1	SAMD9	7	92733048	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	21597959	92733048	66405615	48	10208											
TRIM56	81844	broad.mit.edu	37	chr7	100730794	100730794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacagtgcctgtgccgccCgagggtgtggcctccttcaa	6	8	14	13	2	1	1	1	0	0	1	2	3	2	1	5	2	2	0	5	2	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:100730794C>T	uc003uxq.3	+	2	432	c.201C>T	c.(199-201)ccC>ccT	p.P67P	TRIM56_uc003uxr.3_Silent_p.P67P|TRIM56_uc022aiw.1_Silent_p.P67P	NM_030961	NP_112223	Q9BRZ2	TRI56_HUMAN	Homo sapiens tripartite motif containing 56 (TRIM56), mRNA.	67					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CTGTGCCGCCCGAGGGTGTGG	0.677													T	100730794	C	T	100730794	2	4	151	1	0	0	0	0	0	0	0	1	16631	639	23	1		1	TRIM56	7	100730794	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	7997746	100730794	58407869	49	10209											
RELN	5649	broad.mit.edu	37	chr7	103159906	103159906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatacatgaagtaaaattGgatgaactcagcattagtga	16	10	8	7	0	1	3	1	3	0	0	1	4	1	4	1	1	3	2	1	1	6	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr7:103159906G>T	uc022ajr.1	-	48	7886	c.7726C>A	c.(7726-7728)Caa>Aaa	p.Q2576K	RELN_uc022ajq.1_Missense_Mutation_p.Q2576K|RELN_uc010liz.3_Missense_Mutation_p.Q2576K	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2576					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.I2575I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AAGTAAAATTGGATGAACTCA	0.378													T	103159906	G	T	103159906	3	4	151	1	0	0	0	0	1	0	0	0	13308	1357	47	4	2724	4	RELN	7	103159906	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	2429112	103159906	55978757	50	10210											
DLGAP2	9228	broad.mit.edu	37	chr8	1649565	1649565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccccgaggcccagacccGgctctgagggcggaggccgg	6	3	16	16	4	1	2	0	1	1	1	2	4	2	3	5	6	0	1	5	6	0	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:1649565G>A	uc003wpl.3	+	11	3018	c.2921G>A	c.(2920-2922)cGg>cAg	p.R974Q	DLGAP2_uc003wpm.3_Missense_Mutation_p.R960Q	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	1053					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCCCAGACCCGGCTCTGAGGG	0.706													A	1649565	G	A	1649565	3	1	151	1	0	0	0	0	1	0	0	0	4599	1116	39	1	2963	1	DLGAP2	8	1649565	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		1649565	144714457	51	10211											
ADAM28	10863	broad.mit.edu	37	chr8	24199150	24199150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgtcaaggtgggtcGgataatttgccctggaaagg	8	13	14	6	1	2	0	1	0	1	0	3	2	2	2	1	5	1	1	1	5	3	4	rs145453785	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:24199150G>A	uc003xdy.3	+	15	1793	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.S257S	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	570	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S570S(2)|p.G569W(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													A	24199150	G	A	24199150	2	1	151	1	0	0	0	0	0	0	0	1	246	1103	39	1		1	ADAM28	8	24199150	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	22549585	24199150	122164872	52	10212											
ARHGAP39	80728	broad.mit.edu	37	chr8	145771184	145771184	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactgggcacaggcagcgAggtcctcagactgagaagga	12	4	15	10	2	1	2	1	1	0	2	2	6	2	3	1	4	2	2	1	4	2	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr8:145771184A>G	uc003zds.1	-	6	2525	c.1970T>C	c.(1969-1971)cTc>cCc	p.L657P	ARHGAP39_uc011llk.1_Missense_Mutation_p.L657P|ARHGAP39_uc003zdt.1_Missense_Mutation_p.L657P	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	657					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACAGGCAGCGAGGTCCTCAGA	0.672													G	145771184	A	G	145771184	3	3	151	1	0	0	0	0	1	0	0	0	887	304	11	3	1402	3	ARHGAP39	8	145771184	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08	121572034	145771184	592838	53	10213											
FREM1	158326	broad.mit.edu	37	chr9	14784500	14784500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcgatctggccatatcgcGgaggggaggtgatgacatag	10	9	15	7	3	1	2	0	2	1	0	3	5	1	4	1	5	0	0	1	5	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:14784500G>A	uc003zlm.3	-	24	5126	c.4310C>T	c.(4309-4311)cCg>cTg	p.P1437L	FREM1_uc010mic.3_Intron	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1437					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATATCGCGGAGGGGAGGT	0.488													A	14784500	G	A	14784500	3	1	151	1	0	0	0	0	1	0	0	0	6096	1116	39	1	2335	1	FREM1	9	14784500	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		14784500	126428931	54	10214											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177746	70177747	+	In_Frame_Ins	INS	-	-	GCC																															aactctgaggggtcactcggINSgccgccgccgccctcgatgt																										TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr9:70177746_70177747insGCC	uc010moc.3	-	0	1069_1070	c.237_238insGGC	c.(235-240)insGGC	p.79_80insG		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	79					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.G79G(3)		endometrium(5)|lung(2)	7						GGGTCACTCGGGCCGCCGCCGC	0.688													GCC	70177747	-	GCC	70177746	7	5	151	1	0	1	1	0	0	0	0	0	6053	1232	43	0	1016	0	FOXD4L5	9	70177746	In_Frame_Ins	INS	-	TCGA-16-1048-01B-01D-1353-08	55393246	70177746	71035685	55	10215											
ZMIZ1	57178	broad.mit.edu	37	chr10	81065892	81065892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaccatcgatcccacgtGcagctggcggccggtgccca	6	6	13	16	4	1	0	1	0	0	0	3	1	2	0	4	4	3	2	4	4	0	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:81065892G>T	uc001kaf.2	+	21	3031	c.2459G>T	c.(2458-2460)tGc>tTc	p.C820F	ZMIZ1_uc001kag.2_Missense_Mutation_p.C696F|ZMIZ1_uc010qlq.1_5'UTR	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	820					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GATCCCACGTGCAGCTGGCGG	0.607													T	81065892	G	T	81065892	3	4	151	1	0	0	0	0	1	0	0	0	17797	1319	46	4	2529	4	ZMIZ1	10	81065892	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		81065892	54468855	56	10216											
PNLIP	5406	broad.mit.edu	37	chr10	118307871	118307871	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacttttctgtctaaacaGgaagttgccgcagattcatc	12	12	7	10	1	3	1	1	0	2	1	4	2	3	2	1	1	3	2	1	1	4	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118307871G>A	uc001lcm.3	+	4	245	c.202_splice	c.e4-1	p.E68_splice		NM_000936	NP_000927	P16233	LIPP_HUMAN	Homo sapiens pancreatic lipase (PNLIP), mRNA.	68					lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TGTCTAAACAGGAAGTTGCCG	0.388													A	118307871	G	A	118307871	5	1	151	1	0	0	0	0	0	0	1	0	12226	1014	35	2	211	2	PNLIP	10	118307871	Splice_Site	SNP	G	TCGA-16-1048-01B-01D-1353-08	37241979	118307871	17226876	57	10217											
KIAA1598	57698	broad.mit.edu	37	chr10	118728202	118728202	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttaacggcttcatctcGttcttgcctaattttgtcac	6	20	5	10	2	4	0	2	0	2	0	5	0	4	0	1	1	2	2	1	1	2	9			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr10:118728202G>T	uc021pzk.1	-	2	631	c.133C>A	c.(133-135)Cga>Aga	p.R45R	KIAA1598_uc009xyw.3_Silent_p.R45R|KIAA1598_uc001lcz.4_Silent_p.R45R|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Silent_p.R45R|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Silent_p.R15R	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	45					axon guidance	axon		p.E44K(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTTCATCTCGTTCTTGCCTA	0.318													T	118728202	G	T	118728202	2	4	151	1	0	0	0	0	0	0	0	1	8304	1153	40	4		4	KIAA1598	10	118728202	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	420331	118728202	16806545	58	10218											
STIM1	6786	broad.mit.edu	37	chr11	4045179	4045179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggataagctcatcaGcgtggaggacctgtggaagg	10	8	17	6	1	2	1	2	1	0	0	2	5	2	5	1	6	2	1	1	6	2	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:4045179G>A	uc021qco.1	+	2	915	c.347G>A	c.(346-348)aGc>aAc	p.S116N	STIM1_uc001lyv.2_Missense_Mutation_p.S116N|STIM1_uc009yef.2_Missense_Mutation_p.S116N	NM_003156	NP_003147	Q13586	STIM1_HUMAN	Homo sapiens stromal interaction molecule 1 (STIM1), mRNA.	116					activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		AAGCTCATCAGCGTGGAGGAC	0.488													A	4045179	G	A	4045179	3	1	151	1	0	0	0	0	1	0	0	0	15379	971	34	2	357	2	STIM1	11	4045179	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		4045179	130961337	59	10219											
OR8I2	120586	broad.mit.edu	37	chr11	55861310	55861310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattccagcatcaatcattTtttttgtgacaccacagctc	10	15	5	11	0	2	2	2	2	0	0	4	2	3	2	2	0	2	2	2	0	1	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:55861310T>C	uc010rix.2	+	0	527	c.527T>C	c.(526-528)tTt>tCt	p.F176S		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175fs*10(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ATCAATCATTTTTTTTGTGAC	0.443													C	55861310	T	C	55861310	3	2	151	1	0	0	0	0	1	0	0	0	11316	1841	64	3	529	3	OR8I2	11	55861310	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	51816131	55861310	79145206	60	10220											
SLC22A9	114571	broad.mit.edu	37	chr11	63137793	63137793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgaggccagagaagtgtCgtcgctttgttcatcctcag	9	11	11	10	2	2	2	2	1	0	1	5	3	3	2	2	1	0	2	2	1	1	2	rs143461929	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:63137793C>T	uc001nww.3	+	0	533	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C	SLC22A9_uc001nwx.3_Non-coding_Transcript	NM_080866	NP_543142	Q8IVM8	S22A9_HUMAN	Homo sapiens solute carrier family 22 (organic anion transporter), member 9 (SLC22A9), mRNA.	89					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AGAGAAGTGTCGTCGCTTTGT	0.537													T	63137793	C	T	63137793	3	4	151	1	0	0	0	0	1	0	0	0	14555	884	31	1	267	1	SLC22A9	11	63137793	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	7276483	63137793	71868723	61	10221											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714723	65714723	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccctcctcgttctccCagcgtcagtccaggcgcaag	6	8	9	18	3	2	0	1	0	1	0	6	0	4	0	5	1	2	2	5	1	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:65714723C>T	uc001ogk.1	+	3	456	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	TSGA10IP_uc009yqw.1_Non-coding_Transcript|TSGA10IP_uc009yqx.1_Intron	NM_152762	NP_689975	Q3SY00	T10IP_HUMAN	Homo sapiens testis specific, 10 interacting protein (TSGA10IP), mRNA.	143										endometrium(2)|kidney(3)|lung(9)	14						CTCGTTCTCCCAGCGTCAGTC	0.657													T	65714723	C	T	65714723	4	4	151	1	0	0	0	0	0	1	0	0	16719	595	21	2	437	2	TSGA10IP	11	65714723	Nonsense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	2576930	65714723	69291793	62	10222											
MOGAT2	80168	broad.mit.edu	37	chr11	75439862	75439862	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtgccaatcttctccttCggggagaatgacctatttga	8	13	10	10	1	2	3	0	2	2	1	4	4	2	3	3	3	1	0	3	3	3	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:75439862C>T	uc010rru.2	+	4	678	c.678C>T	c.(676-678)ttC>ttT	p.F226F	MOGAT2_uc001oww.1_3'UTR|MOGAT2_uc010rrv.2_Silent_p.F144F	NM_025098	NP_079374	Q3SYC2	MOGT2_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 2 (MOGAT2), mRNA.	226					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					TCTTCTCCTTCGGGGAGAATG	0.537													T	75439862	C	T	75439862	2	4	151	1	0	0	0	0	0	0	0	1	9771	883	31	1		1	MOGAT2	11	75439862	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	9725139	75439862	59566654	63	10223											
GDPD4	220032	broad.mit.edu	37	chr11	76990356	76990356	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagcattactcaccaacaGcaatgaagagtaggcagtca	17	6	9	9	0	2	3	2	1	0	2	2	3	2	3	1	1	4	4	1	1	6	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:76990356G>A	uc001oyf.3	-	2	393	c.142C>T	c.(142-144)Ctg>Ttg	p.L48L		NM_182833	NP_878253	Q6W3E5	GDPD4_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 4 (GDPD4), mRNA.	48					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTCACCAACAGCAATGAAGAG	0.433													A	76990356	G	A	76990356	2	1	151	1	0	0	0	0	0	0	0	1	6382	962	34	2		2	GDPD4	11	76990356	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	1550494	76990356	58016160	64	10224											
AMOTL1	154810	broad.mit.edu	37	chr11	94532995	94532995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacagcagcagggggcGgtgggccatggttactacat	10	6	15	10	1	0	0	0	0	0	0	0	0	0	0	1	5	6	4	1	5	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:94532995G>A	uc001pfb.3	+	2	809	c.639G>A	c.(637-639)gcG>gcA	p.A213A	AMOTL1_uc001pfc.3_Silent_p.A163A	NM_130847	NP_570899	Q8IY63	AMOL1_HUMAN	Homo sapiens angiomotin like 1 (AMOTL1), mRNA.	213						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				agcagGGGGCGGTGGGCCATG	0.612													A	94532995	G	A	94532995	2	1	151	1	0	0	0	0	0	0	0	1	583	1103	39	1		1	AMOTL1	11	94532995	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	17542639	94532995	40473521	65	10225											
CLDN25	644672	broad.mit.edu	37	chr11	113650759	113650759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggagctccaggtagcccGcatcctcatggtagcctccc	7	7	10	17	1	1	0	1	0	0	0	4	1	4	1	6	3	3	4	6	3	2	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr11:113650759G>A	uc009yyw.1	+	0	242	c.242G>A	c.(241-243)cGc>cAc	p.R81H		NM_001101389	NP_001094859	C9JDP6	CLD25_HUMAN	Homo sapiens claudin 25 (CLDN25), mRNA.	81						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						CAGGTAGCCCGCATCCTCATG	0.557													A	113650759	G	A	113650759	3	1	151	1	0	0	0	0	1	0	0	0	3516	1087	38	1	244	1	CLDN25	11	113650759	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	19117764	113650759	21355757	66	10226											
AQP5	362	broad.mit.edu	37	chr12	50355944	50355944	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgcagatcgcgctggcGtttggcctggccataggcac	6	9	13	13	3	0	1	0	0	0	1	2	1	1	1	3	4	1	4	3	4	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:50355944G>A	uc001rvo.2	+	0	666	c.144G>A	c.(142-144)gcG>gcA	p.A48A		NM_001651	NP_001642	P55064	AQP5_HUMAN	Homo sapiens aquaporin 5 (AQP5), mRNA.	48					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TCGCGCTGGCGTTTGGCCTGG	0.667													A	50355944	G	A	50355944	2	1	151	1	0	0	0	0	0	0	0	1	832	1132	40	1		1	AQP5	12	50355944	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		50355944	83495951	67	10227											
HSD17B6	8630	broad.mit.edu	37	chr12	57167873	57167873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgacaggctggagacGgtgaccctggatgttaccaa	10	8	13	10	2	1	3	0	2	1	1	1	5	1	4	2	4	1	2	2	4	2	1	rs147344470	byFrequency	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:57167873G>A	uc001smg.1	+	1	347	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_003725	NP_003716	O14756	H17B6_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse) (HSD17B6), mRNA.	79					androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	GGCTGGAGACGGTGACCCTGG	0.567													A	57167873	G	A	57167873	2	1	151	1	0	0	0	0	0	0	0	1	7442	1103	39	1		1	HSD17B6	12	57167873	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	6811929	57167873	76684022	68	10228											
NOS1	4842	broad.mit.edu	37	chr12	117669899	117669899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggaagatggtgcagggCgggaggcggagctcgtctgt	6	7	20	8	3	1	1	0	0	1	1	2	4	1	4	1	6	2	2	1	6	1	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr12:117669899C>T	uc001twn.2	-	22	4086	c.3375G>A	c.(3373-3375)ccG>ccA	p.P1125P	NOS1_uc021ren.1_Silent_p.P755P|NOS1_uc021reo.1_Silent_p.P755P|NOS1_uc001twm.2_Silent_p.P1091P	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	1091	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.P1091P(1)|p.E1124K(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGTGCAGGGCGGGAGGCGGA	0.602													T	117669899	C	T	117669899	2	4	151	1	0	0	0	0	0	0	0	1	10617	755	27	1		1	NOS1	12	117669899	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08	60502026	117669899	16181996	69	10229											
TSC22D1	8848	broad.mit.edu	37	chr13	45148388	45148388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggaggagccgcctgaGaatatggtagctggggttga	9	8	17	7	1	0	2	0	2	0	1	0	5	0	4	2	5	2	4	2	5	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:45148388G>T	uc001uzn.4	-	0	2314	c.1823C>A	c.(1822-1824)tCt>tAt	p.S608Y	TSC22D1_uc001uzo.2_Intron|TSC22D1-AS1_uc021rjb.1_5'Flank	NM_183422	NP_904358	Q15714	T22D1_HUMAN	Homo sapiens TSC22 domain family, member 1 (TSC22D1), transcript variant 1, mRNA.	608	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		AGCCGCCTGAGAATATGGTAG	0.522													T	45148388	G	T	45148388	3	4	151	1	0	0	0	0	1	0	0	0	16708	942	33	4	1539	4	TSC22D1	13	45148388	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		45148388	70021490	70	10230											
TUBGCP3	10426	broad.mit.edu	37	chr13	113176787	113176787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcatcaatcttccccTgaaatgcattttccaagtct	12	12	5	12	0	3	1	1	1	2	0	5	1	5	1	3	0	3	3	3	0	4	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr13:113176787T>C	uc001vse.1	-	13	1779	c.1592A>G	c.(1591-1593)cAg>cGg	p.Q531R	TUBGCP3_uc010tjq.1_Missense_Mutation_p.Q521R|TUBGCP3_uc001vsf.3_Missense_Mutation_p.Q531R	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	531					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton	p.Q531*(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					AATCTTCCCCTGAAATGCATT	0.423													C	113176787	T	C	113176787	3	2	151	1	0	0	0	0	1	0	0	0	16869	1580	55	3	1167	3	TUBGCP3	13	113176787	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08	68028399	113176787	1993091	71	10231											
AK7	122481	broad.mit.edu	37	chr14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgacggtgatgacttgggCgcgctccaaagccctggacc	7	7	14	13	4	0	2	0	2	0	0	2	4	1	3	3	3	1	1	3	3	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:96875256C>T	uc001yfn.2	+	3	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	159					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473													T	96875256	C	T	96875256	3	4	151	1	0	0	0	0	1	0	0	0	444	768	27	1	490	1	AK7	14	96875256	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		96875256	10474284	72	10232											
AHNAK2	113146	broad.mit.edu	37	chr14	105407228	105407228	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tacctgaccaagagaaacagGaatcatggaattcagtgggc	15	7	11	8	0	2	2	2	1	0	1	2	5	2	4	2	3	2	0	2	3	5	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr14:105407228G>C	uc010axc.1	-	6	14680	c.14560C>G	c.(14560-14562)Cct>Gct	p.P4854A	AHNAK2_uc021sen.1_Missense_Mutation_p.P251A|AHNAK2_uc021seo.1_5'UTR|AHNAK2_uc001ypx.2_Missense_Mutation_p.P4754A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4854						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AGAGAAACAGGAATCATGGAA	0.483													C	105407228	G	C	105407228	3	2	151	1	0	0	0	0	1	0	0	0	415	1174	41	4	2831	4	AHNAK2	14	105407228	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	8531972	105407228	1942312	73	10233											
NDN	4692	broad.mit.edu	37	chr15	23932352	23932352	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtcgctcagatccttacTttgttctgacatgtctgcgc	6	14	10	11	2	3	2	1	1	2	1	5	2	4	2	1	1	2	2	1	1	1	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:23932352T>A	uc001ywk.3	-	0	99	c.13A>T	c.(13-15)Agt>Tgt	p.S5C		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	5					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding	p.S5I(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		AGATCCTTACTTTGTTCTGAC	0.642									Prader-Willi syndrome				A	23932352	T	A	23932352	3	1	151	1	0	0	0	0	1	0	0	0	10323	1609	56	5	956	5	NDN	15	23932352	Missense_Mutation	SNP	T	TCGA-16-1048-01B-01D-1353-08		23932352	78599040	74	10234											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30659651	30659651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgcccccgtcggggtcGtggtggtggtactgcagcac	4	10	15	12	3	1	0	0	0	1	0	3	0	1	0	2	5	4	3	2	5	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:30659651G>A	uc001zdt.1	-	8	1256	c.690C>T	c.(688-690)caC>caT	p.H230H	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.H139H|CHRFAM7A_uc010azn.2_Silent_p.H139H	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	230						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CGTCGGGGTCGTGGTGGTGGT	0.602													A	30659651	G	A	30659651	2	1	151	1	0	0	0	0	0	0	0	1	3405	1136	40	1		1	CHRFAM7A	15	30659651	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	6727299	30659651	71871741	75	10235											
MNS1	55329	broad.mit.edu	37	chr15	56735891	56735893	+	In_Frame_Del	DEL	TCT	TCT	-																															cttgaacttttgccatccgaTcttcttctctttgctgctgc																										TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:56735891_56735893delTCT	uc002adr.2	-	5	1011_1013	c.846_848delAGA	c.(844-849)gaagat>gat	p.E282del	MNS1_uc010bfo.2_In_Frame_Del_p.E150del|TEX9_uc002adp.3_Intron|TEX9_uc010ugl.2_Intron	NM_018365	NP_060835	Q8NEH6	MNS1_HUMAN	Homo sapiens meiosis-specific nuclear structural 1 (MNS1), mRNA.	282	Glu-rich.				meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		TGCCATCCGATCTTCTTCTCTTT	0.369													-	56735893	TCT	-	56735891	7	5	151	1	0	1	0	1	0	0	0	0	9753	1435	50	0	659	0	MNS1	15	56735891	In_Frame_Del	DEL	TCT	TCGA-16-1048-01B-01D-1353-08	26076240	56735891	45795501	76	10236											
ARID3B	10620	broad.mit.edu	37	chr15	74884098	74884098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgcagcaggccttccagCgcaactttttcagcatggca	8	10	11	12	1	1	0	1	0	0	0	2	0	2	0	2	3	5	5	2	3	1	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr15:74884098C>T	uc002aye.3	+	6	1564	c.1363C>T	c.(1363-1365)Cgc>Tgc	p.R455C	ARID3B_uc002ayd.3_Missense_Mutation_p.R455C|ARID3B_uc010bjs.1_Missense_Mutation_p.R160C	NM_006465	NP_006456	Q8IVW6	ARI3B_HUMAN	Homo sapiens AT rich interactive domain 3B (BRIGHT-like) (ARID3B), mRNA.	455	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						GGCCTTCCAGCGCAACTTTTT	0.647													T	74884098	C	T	74884098	3	4	151	1	0	0	0	0	1	0	0	0	920	768	27	1	1385	1	ARID3B	15	74884098	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	18148207	74884098	27647294	77	10237											
SRRM2	23524	broad.mit.edu	37	chr16	2812074	2812074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgatctccccagtggcgtagGtccaggtctgcacagaggtg	7	8	14	12	2	2	1	0	0	2	1	4	2	3	1	3	4	1	2	3	4	1	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:2812074G>A	uc002crk.3	+	10	2094	c.1545G>A	c.(1543-1545)agG>agA	p.R515R	SRRM2_uc002crj.1_Silent_p.R419R|SRRM2_uc002crl.1_Silent_p.R515R|SRRM2_uc010bsu.1_Silent_p.R419R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	515	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGTGGCGTAGGTCCAGGTCTG	0.617													A	2812074	G	A	2812074	2	1	151	1	0	0	0	0	0	0	0	1	15265	1252	44	2		2	SRRM2	16	2812074	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		2812074	87542679	78	10238											
ACSM2A	123876	broad.mit.edu	37	chr16	20476938	20476938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtgaaaacagccagcagGcagccaacgtcctctcggga	12	5	12	12	2	1	2	0	2	1	0	3	3	2	3	3	2	5	2	3	2	3	0	rs141326932		TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20476938G>A	uc010bwe.3	+	3	516	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2A_uc010bwd.1_Non-coding_Transcript|ACSM2A_uc010vax.1_Missense_Mutation_p.A14T|ACSM2A_uc002dhf.4_Missense_Mutation_p.A93T|ACSM2A_uc002dhg.4_Missense_Mutation_p.A93T|ACSM2A_uc010vay.2_Missense_Mutation_p.A14T	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	93					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						CAGCCAGCAGGCAGCCAACGT	0.612													A	20476938	G	A	20476938	3	1	151	1	0	0	0	0	1	0	0	0	183	1203	42	2	283	2	ACSM2A	16	20476938	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	17664864	20476938	69877815	79	10239											
ACSM2B	348158	broad.mit.edu	37	chr16	20570670	20570670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccgagaggatgttggctgCctgctggctgttttcactca	5	13	12	11	1	2	1	2	0	0	1	3	3	3	2	2	3	2	5	2	3	0	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr16:20570670C>T	uc002dhj.4	-	3	487	c.277G>A	c.(277-279)Gca>Aca	p.A93T	ACSM2B_uc002dhk.4_Missense_Mutation_p.A93T|ACSM2B_uc010bwf.1_Missense_Mutation_p.A93T	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	93					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						ATGTTGGCTGCCTGCTGGCTG	0.602													T	20570670	C	T	20570670	3	4	151	1	0	0	0	0	1	0	0	0	184	739	26	2	1504	2	ACSM2B	16	20570670	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	93732	20570670	69784083	80	10240											
ALOX12B	242	broad.mit.edu	37	chr17	7989533	7989533	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcactgcacggtgtactgGcccacctaggcaggatgcaa	9	6	14	12	1	0	0	0	0	0	0	0	1	0	1	2	5	3	5	2	5	3	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:7989533G>T	uc002gjy.1	-	1	414	c.153C>A	c.(151-153)ggC>ggA	p.G51G	MIR4314_uc021tpn.1_5'Flank	NM_001139	NP_001130	O75342	LX12B_HUMAN	Homo sapiens arachidonate 12-lipoxygenase, 12R type (ALOX12B), mRNA.	51	PLAT.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CGGTGTACTGGCCCACCTAGG	0.647										Multiple Myeloma(8;0.094)			T	7989533	G	T	7989533	2	4	151	1	0	0	0	0	0	0	0	1	537	1190	42	4		4	ALOX12B	17	7989533	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		7989533	73205677	81	10241											
SMCR7	125170	broad.mit.edu	37	chr17	18167942	18167942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccctggagctgctcatcgGcagcctggagcaggccagcc	7	5	14	15	1	1	0	1	0	0	0	2	2	1	2	4	4	6	4	4	4	0	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:18167942G>A	uc010vxq.2	+	3	1288	c.1262G>A	c.(1261-1263)gGc>gAc	p.G421D	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.G410D	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	410						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CTGCTCATCGGCAGCCTGGAG	0.627													A	18167942	G	A	18167942	3	1	151	1	0	0	0	0	1	0	0	0	14884	1203	42	2	1276	2	SMCR7	17	18167942	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	10178409	18167942	63027268	82	10242											
GPR179	440435	broad.mit.edu	37	chr17	36499092	36499092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcttcttcagggcagggGtgtccaggtccccaggaggg	5	8	16	12	1	2	0	1	0	1	0	5	1	4	1	3	6	0	2	3	6	0	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:36499092G>A	uc002hpz.3	-	0	602	c.581C>T	c.(580-582)aCc>aTc	p.T194I		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	194						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CAGGGCAGGGGTGTCCAGGTC	0.642													A	36499092	G	A	36499092	3	1	151	1	0	0	0	0	1	0	0	0	6728	1261	44	2	6566	2	GPR179	17	36499092	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	18331150	36499092	44696118	83	10243											
PPM1D	8493	broad.mit.edu	37	chr17	58740521	58740521	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatccagaaccacttgaaGaaaattgcgctaaagccctg	16	7	8	10	1	0	4	0	1	0	3	1	4	1	4	3	0	3	1	3	0	7	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:58740521G>T	uc002iyt.2	+	5	1658	c.1426G>T	c.(1426-1428)Gaa>Taa	p.E476*	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	476					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCACTTGAAGAAAATTGCGC	0.403											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	T	58740521	G	T	58740521	4	4	151	1	0	0	0	0	0	1	0	0	12419	943	33	4	1448	4	PPM1D	17	58740521	Nonsense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	22241429	58740521	22454689	84	10244											
C17orf77	146723	broad.mit.edu	37	chr17	72588368	72588368	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctctcctctccttggTgatcacaggtgtctggtgcc	3	14	10	14	0	5	1	1	1	4	0	8	1	5	1	4	3	1	0	4	3	0	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr17:72588368T>G	uc002jla.1	+	2	545	c.183T>G	c.(181-183)ggT>ggG	p.G61G	CD300LD_uc002jkz.2_5'UTR|C17orf77_uc021ucq.1_Silent_p.G61G	NM_152460	NP_689673	Q96MU5	CQ077_HUMAN	Homo sapiens chromosome 17 open reading frame 77 (C17orf77), mRNA.	61						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						CTCTCCTTGGTGATCACAGGT	0.537													G	72588368	T	G	72588368	2	3	151	1	0	0	0	0	0	0	0	1	1899	1683	59	5		5	C17orf77	17	72588368	Silent	SNP	T	TCGA-16-1048-01B-01D-1353-08	13847847	72588368	8606842	85	10245											
EMILIN2	84034	broad.mit.edu	37	chr18	2892201	2892201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcttgtaaggaatgcacGcagggggtccagagggaggt	10	7	18	6	1	0	1	0	0	0	1	1	4	1	3	1	5	2	4	1	5	2	2	rs3810066	by1000genomes	TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:2892201G>A	uc002kln.3	+	3	2235	c.2076G>A	c.(2074-2076)acG>acA	p.T692T		NM_032048	NP_114437	Q9BXX0	EMIL2_HUMAN	Homo sapiens elastin microfibril interfacer 2 (EMILIN2), mRNA.	692					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		AGGAATGCACGCAGGGGGTCC	0.572													A	2892201	G	A	2892201	2	1	151	1	0	0	0	0	0	0	0	1	5135	1074	38	1		1	EMILIN2	18	2892201	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08		2892201	75185047	86	10246											
DCC	1630	broad.mit.edu	37	chr18	50592528	50592528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcacagctcattgtccCtaagcctggtaagacaatgg	11	9	10	11	0	1	1	1	0	0	1	2	1	2	1	2	2	3	3	2	2	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:50592528C>A	uc002lfe.2	+	6	1869	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	DCC_uc010xdr.1_Missense_Mutation_p.P266H|DCC_uc010dpf.2_Missense_Mutation_p.P73H	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	418					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P418T(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		CTCATTGTCCCTAAGCCTGGT	0.438													A	50592528	C	A	50592528	3	1	151	1	0	0	0	0	1	0	0	0	4316	681	24	4	1279	4	DCC	18	50592528	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	47700327	50592528	27484720	87	10247											
ZNF532	55205	broad.mit.edu	37	chr18	56587377	56587377	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgtgggtacaagtgcttgGagtgtggggactcctttgca	6	11	16	8	2	0	0	0	0	0	0	1	2	1	2	1	4	3	3	1	4	2	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:56587377G>T	uc010xeg.2	+	2	2055	c.1858G>T	c.(1858-1860)Gag>Tag	p.E620*	ZNF532_uc002lhp.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lho.3_Nonsense_Mutation_p.E620*|ZNF532_uc002lhr.3_Nonsense_Mutation_p.E618*|ZNF532_uc002lhs.3_Nonsense_Mutation_p.E618*	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	620					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						CAAGTGCTTGGAGTGTGGGGA	0.537													T	56587377	G	T	56587377	4	4	151	1	0	0	0	0	0	1	0	0	18073	1175	41	4	1860	4	ZNF532	18	56587377	Nonsense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	5994849	56587377	21489871	88	10248											
MC4R	4160	broad.mit.edu	37	chr18	58039346	58039346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgcagatgaaaaagtaCatgggtgaatgcagattctt	15	10	11	5	0	1	4	0	2	1	2	1	4	1	4	0	1	4	4	0	1	5	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr18:58039346C>T	uc002lie.1	-	0	656	c.237G>A	c.(235-237)atG>atA	p.M79I		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	79					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TGAAAAAGTACATGGGTGAAT	0.438													T	58039346	C	T	58039346	3	4	151	1	0	0	0	0	1	0	0	0	9441	478	17	2	765	2	MC4R	18	58039346	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	1451969	58039346	20037902	89	10249											
ARID3A	1820	broad.mit.edu	37	chr19	964263	964263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagggacacctgtgaaccGcatccccatcatggccaaac	11	5	8	17	1	1	1	1	1	0	0	2	2	2	2	6	2	2	1	6	2	2	0			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:964263G>A	uc002lql.3	+	4	1072	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005224	NP_005215	Q99856	ARI3A_HUMAN	Homo sapiens AT rich interactive domain 3A (BRIGHT-like) (ARID3A), mRNA.	261	ARID.					cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCTGTGAACCGCATCCCCATC	0.637													A	964263	G	A	964263	3	1	151	1	0	0	0	0	1	0	0	0	919	1087	38	1	796	1	ARID3A	19	964263	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08		964263	58164720	90	10250											
FUT6	2528	broad.mit.edu	37	chr19	5832254	5832254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtacatgacctctcggtGgtgcacgatgaccgcgtctg	6	11	13	11	4	2	2	0	2	2	0	3	3	2	2	2	2	2	3	2	2	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:5832254G>C	uc002mdf.1	-	3	851	c.325C>G	c.(325-327)Cac>Gac	p.H109D	FUT6_uc021unl.1_Missense_Mutation_p.H109D|FUT6_uc002mdg.1_Missense_Mutation_p.H109D|FUT6_uc002mdh.1_Missense_Mutation_p.H109D|FUT6_uc021unm.1_Missense_Mutation_p.H109D	NM_001040701	NP_001035791	P51993	FUT6_HUMAN	Homo sapiens fucosyltransferase 6 (alpha (1,3) fucosyltransferase) (FUT6), transcript variant 2, mRNA.	109					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTCTCGGTGGTGCACGATG	0.642													C	5832254	G	C	5832254	3	2	151	1	0	0	0	0	1	0	0	0	6160	1348	47	4	758	4	FUT6	19	5832254	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4867991	5832254	53296729	91	10251											
CYP2B6	1555	broad.mit.edu	37	chr19	41515999	41515999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccaccagcaccactctccGctacggcttcctgctcatgc	7	8	7	19	2	2	0	1	0	1	0	4	1	3	0	5	1	4	4	5	1	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:41515999G>A	uc002opr.1	+	5	930	c.923G>A	c.(922-924)cGc>cAc	p.R308H	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	308					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	ACCACTCTCCGCTACGGCTTC	0.552													A	41515999	G	A	41515999	3	1	151	1	0	0	0	0	1	0	0	0	4197	1087	38	1	945	1	CYP2B6	19	41515999	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	35683745	41515999	17612984	92	10252											
FOXA3	3171	broad.mit.edu	37	chr19	46375889	46375889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggctgctacctgcgccGccagaaacgcttcaagctgg	9	7	12	13	3	1	1	1	0	0	1	1	2	1	1	3	2	5	4	3	2	4	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr19:46375889G>A	uc002pdr.3	+	1	823	c.626G>A	c.(625-627)cGc>cAc	p.R209H		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	209					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACCTGCGCCGCCAGAAACGC	0.627													A	46375889	G	A	46375889	3	1	151	1	0	0	0	0	1	0	0	0	6040	1087	38	1	632	1	FOXA3	19	46375889	Missense_Mutation	SNP	G	TCGA-16-1048-01B-01D-1353-08	4859890	46375889	12753094	93	10253											
ANGPT4	51378	broad.mit.edu	37	chr20	869018	869018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagcagctggttctccAgcttgttggtggacagaaag	9	10	14	8	0	1	1	0	0	1	1	2	2	1	2	1	3	4	7	1	3	2	4			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:869018A>G	uc002wei.3	-	2	633	c.530T>C	c.(529-531)cTg>cCg	p.L177P	ANGPT4_uc010zpn.2_Missense_Mutation_p.L171P	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	177					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						CTGGTTCTCCAGCTTGTTGGT	0.597													G	869018	A	G	869018	3	3	151	1	0	0	0	0	1	0	0	0	612	188	7	3	1009	3	ANGPT4	20	869018	Missense_Mutation	SNP	A	TCGA-16-1048-01B-01D-1353-08		869018	62156502	94	10254											
DHX35	60625	broad.mit.edu	37	chr20	37632428	37632428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcgatgctcatcgagCaggctcgagcactagctcgc	7	10	12	12	4	1	0	1	0	0	0	5	3	1	0	0	1	4	5	0	1	1	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr20:37632428C>A	uc002xjh.3	+	10	919	c.889C>A	c.(889-891)Cag>Aag	p.Q297K	DHX35_uc010zwa.2_Missense_Mutation_p.Q142K|DHX35_uc010zwc.2_Missense_Mutation_p.Q266K|DHX35_uc010zwb.2_Missense_Mutation_p.Q142K	NM_021931	NP_068750	Q9H5Z1	DHX35_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 35 (DHX35), transcript variant 1, mRNA.	297	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCTCATCGAGCAGGCTCGAGC	0.453													A	37632428	C	A	37632428	3	1	151	1	0	0	0	0	1	0	0	0	4547	711	25	4	931	4	DHX35	20	37632428	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08	36763410	37632428	25393092	95	10255											
BACH1	571	broad.mit.edu	37	chr21	30693606	30693606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acatttgttatgcagaatgtCtctgagtgagaactcggttt	10	15	10	6	1	1	3	0	2	1	2	3	4	1	3	0	1	2	3	0	1	3	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:30693606C>G	uc002ynk.3	+	1	248	c.5C>G	c.(4-6)tCt>tGt	p.S2C	BACH1_uc002ynj.3_Missense_Mutation_p.S2C|BACH1_uc002ynl.2_Non-coding_Transcript	NM_206866	NP_996749	O14867	BACH1_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 1 (BACH1), transcript variant 1, mRNA.	2						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TGCAGAATGTCTCTGAGTGAG	0.403													G	30693606	C	G	30693606	3	3	151	1	0	0	0	0	1	0	0	0	1288	913	32	4	7	4	BACH1	21	30693606	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		30693606	17436289	96	10256											
KRTAP12-3	386683	broad.mit.edu	37	chr21	46078019	46078019	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgcccgtgagctgcacGcgcattgtgtgcgtggctcc	4	10	14	13	4	0	1	0	1	0	0	1	1	1	1	2	1	5	5	2	1	0	1			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr21:46078019G>A	uc002zft.3	+	0	171	c.123G>A	c.(121-123)acG>acA	p.T41T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198697	NP_941970	P60328	KR123_HUMAN	Homo sapiens keratin associated protein 12-3 (KRTAP12-3), mRNA.	41	14 X 5 AA approximate repeats.					intermediate filament		p.C40*(1)		central_nervous_system(1)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TGAGCTGCACGCGCATTGTGT	0.637													A	46078019	G	A	46078019	2	1	151	1	0	0	0	0	0	0	0	1	8578	1074	38	1		1	KRTAP12-3	21	46078019	Silent	SNP	G	TCGA-16-1048-01B-01D-1353-08	15384413	46078019	2051876	97	10257											
PARVG	64098	broad.mit.edu	37	chr22	44581720	44581720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacctgccacccacttccCggaaggaccccaaatttgaa	13	7	6	15	1	0	1	0	1	0	0	1	3	1	3	6	2	2	0	6	2	5	3			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chr22:44581720C>T	uc011aqe.2	+	3	536	c.112C>T	c.(112-114)Cgg>Tgg	p.R38W	PARVG_uc010gzo.3_Missense_Mutation_p.R105W|PARVG_uc021wra.1_Missense_Mutation_p.R38W|PARVG_uc003bep.3_Missense_Mutation_p.R38W|PARVG_uc010gzq.1_Non-coding_Transcript|PARVG_uc021wrb.1_Missense_Mutation_p.R38W|PARVG_uc011aqf.2_Missense_Mutation_p.R38W|PARVG_uc021wrc.1_Non-coding_Transcript	NM_001137605	NP_071424	Q9HBI0	PARVG_HUMAN	Homo sapiens parvin, gamma (PARVG), transcript variant 2, mRNA.	38					cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				ACCCACTTCCCGGAAGGACCC	0.607													T	44581720	C	T	44581720	3	4	151	1	0	0	0	0	1	0	0	0	11546	643	23	1	118	1	PARVG	22	44581720	Missense_Mutation	SNP	C	TCGA-16-1048-01B-01D-1353-08		44581720	6722846	98	10258											
PHF8	23133	broad.mit.edu	37	chrX	53970579	53970579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctacctgctgggccagCtttgcagctgctgcagccaa	7	8	11	15	0	0	0	0	0	0	0	0	0	0	0	4	1	8	7	4	1	2	2			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrX:53970579C>T	uc004dsu.3	-	19	2991	c.2745G>A	c.(2743-2745)aaG>aaA	p.K915K	PHF8_uc004dsv.3_Silent_p.K745K|PHF8_uc004dst.3_Silent_p.K879K|PHF8_uc004dsw.3_Silent_p.K778K|PHF8_uc004dsx.3_Silent_p.K643K|PHF8_uc004dsy.3_Silent_p.K862K	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	915					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GCTGGGCCAGCTTTGCAGCTG	0.592													T	53970579	C	T	53970579	2	4	151	1	0	0	0	0	0	0	0	1	11917	796	28	2		2	PHF8	23	53970579	Silent	SNP	C	TCGA-16-1048-01B-01D-1353-08		53970579	101299981	99	10259											
PCDH11Y	83259	broad.mit.edu	37	chrY	4966471	4966471	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagtctttaaggagacAgagattgaagtcagtatacc	14	9	9	9	0	2	3	1	1	1	2	2	5	2	3	2	1	1	1	2	1	4	5			TCGA-16-1048-01B-01D-1353-08	TCGA-16-1048-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52671a3d-7840-402c-a49c-8b9a6fb2674d	ece35cba-afac-4d82-8f6d-dd626efa0acf	g.chrY:4966471A>G	uc004fqo.3	+	1	1586	c.852A>G	c.(850-852)acA>acG	p.T284T	PCDH11Y_uc010nwg.1_Silent_p.T273T|PCDH11Y_uc004fql.1_Silent_p.T273T|PCDH11Y_uc004fqm.1_Silent_p.T273T|PCDH11Y_uc004fqn.1_Silent_p.T284T|PCDH11Y_uc004fqp.1_Silent_p.T55T	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	284	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTAAGGAGACAGAGATTGAAG	0.428													G	4966471	A	G	4966471	2	3	151	1	0	0	0	0	0	0	0	1	11585	175	7	3		3	PCDH11Y	24	4966471	Silent	SNP	A	TCGA-16-1048-01B-01D-1353-08		4966471	54407095	100	10260											
EPHA10	284656	broad.mit.edu	37	chr1	38227511	38227511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctaggcggggacgcccaCggcccaggtcggcctcagtt	5	5	15	16	5	1	0	1	0	0	0	2	1	1	1	4	6	0	1	4	6	1	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:38227511C>T	uc009vvi.3	-	2	502	c.416G>A	c.(415-417)cGt>cAt	p.R139H	EPHA10_uc001cbw.4_Missense_Mutation_p.R139H	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	139						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.R139H(2)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGCCCACGGCCCAGGTC	0.657													T	38227511	C	T	38227511	3	4	152	1	0	0	0	0	1	0	0	0	5207	536	19	1	2708	1	EPHA10	1	38227511	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		38227511	211023110	1	10261											
DAB1	1600	broad.mit.edu	37	chr1	57535099	57535099	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcctcaaacacaatgtaCtattacaggagcagccagaa	16	6	7	12	0	1	1	1	0	0	1	1	2	1	2	3	1	6	2	3	1	6	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:57535099C>T	uc009vzx.1	-	8	918	c.598_splice	c.e8-1	p.Y200_splice	DAB1_uc001cyt.1_Splice_Site_p.Y200_splice|DAB1_uc001cyq.1_Intron|DAB1_uc001cyr.1_Intron|DAB1_uc009vzw.1_Intron|DAB1_uc001cys.1_Splice_Site_p.Y200_splice	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	200					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ACACAATGTACTATTACAGGA	0.413													T	57535099	C	T	57535099	5	4	152	1	0	0	0	0	0	0	1	0	4251	579	20	2	1098	2	DAB1	1	57535099	Splice_Site	SNP	C	TCGA-19-1390-01A-01D-1495-08	19307588	57535099	191715522	2	10262											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877752	76877752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcaggtcagatggttggCcagaaggtgggaaatgagat	13	8	15	5	0	2	3	2	1	0	3	2	5	2	4	1	5	1	1	1	5	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:76877752C>T	uc001dhh.2	+	2	436	c.273C>T	c.(271-273)ggC>ggT	p.G91G	ST6GALNAC3_uc001dhg.4_Silent_p.G91G|ST6GALNAC3_uc010orh.1_Silent_p.G26G	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	91					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AGATGGTTGGCCAGAAGGTGG	0.448													T	76877752	C	T	76877752	2	4	152	1	0	0	0	0	0	0	0	1	15321	726	26	2		2	ST6GALNAC3	1	76877752	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	19342653	76877752	172372869	3	10263											
PDE4DIP	9659	broad.mit.edu	37	chr1	144854614	144854614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcgctcctgtttggataCtttggttctcagttccagaa	7	15	10	9	1	1	1	1	0	1	1	5	3	3	2	2	2	1	4	2	2	2	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:144854614C>T	uc021ouh.1	-	41	7158	c.6856G>A	c.(6856-6858)Gta>Ata	p.V2286I	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.V2286I|PDE4DIP_uc001elx.4_Missense_Mutation_p.V2180I|PDE4DIP_uc001elv.4_Missense_Mutation_p.V1293I	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2286					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGTTTGGATACTTTGGTTCTC	0.498			T	PDGFRB	MPD								T	144854614	C	T	144854614	3	4	152	1	0	0	0	0	1	0	0	0	11719	565	20	2	196	2	PDE4DIP	1	144854614	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	67976862	144854614	104396007	4	10264											
LCE1E	353135	broad.mit.edu	37	chr1	152760044	152760044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcccaccgtcacagacCccagagctctgactgctgca	9	6	9	17	1	2	3	1	1	1	2	3	3	3	3	4	1	3	3	4	1	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:152760044C>A	uc021ozg.1	+	0	269	c.269C>A	c.(268-270)cCc>cAc	p.P90H	LCE1E_uc001fan.3_Missense_Mutation_p.P90H	NM_178353	NP_848130	Q5T753	LCE1E_HUMAN	Homo sapiens late cornified envelope 1E (LCE1E), mRNA.	90	Cys-rich.				keratinization					lung(5)|stomach(1)	6	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGTCACAGACCCCAGAGCTCT	0.687													A	152760044	C	A	152760044	3	1	152	1	0	0	0	0	1	0	0	0	8722	623	22	4	271	4	LCE1E	1	152760044	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	7905430	152760044	96490577	5	10265											
RGS4	5999	broad.mit.edu	37	chr1	163044110	163044110	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttggcctttgcccctcaGgtgaacctggattcttgcac	5	12	10	14	0	2	1	1	1	1	0	2	2	2	2	5	3	3	1	5	3	1	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:163044110G>A	uc001gcl.4	+	6	999	c.670_splice	c.e6-1	p.V224_splice	RGS4_uc009wuy.3_Splice_Site_p.V127_splice|RGS4_uc009wuz.3_Splice_Site_p.C71_splice|RGS4_uc009wva.3_Splice_Site_p.V109_splice	NM_001102445	NP_001106851	P49798	RGS4_HUMAN	Homo sapiens regulator of G-protein signaling 4 (RGS4), transcript variant 1, mRNA.	127					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGCCCCTCAGGTGAACCTGG	0.488													A	163044110	G	A	163044110	5	1	152	1	0	0	0	0	0	0	1	0	13396	1014	35	2	691	2	RGS4	1	163044110	Splice_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	10284066	163044110	86206511	6	10266											
C1orf129	80133	broad.mit.edu	37	chr1	170928687	170928687	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttgtcatgccaagtctTgacaaagtaaaagaaatggg	15	10	10	6	0	2	2	1	1	1	1	2	2	2	2	1	1	1	2	1	1	6	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:170928687T>G	uc010plz.2	+	4	391	c.237T>G	c.(235-237)ctT>ctG	p.L79L	C1orf129_uc001ghg.3_Silent_p.L79L|C1orf129_uc009wvy.3_5'UTR	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	79							binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGCCAAGTCTTGACAAAGTAA	0.363													G	170928687	T	G	170928687	2	3	152	1	0	0	0	0	0	0	0	1	2016	1799	63	5		5	C1orf129	1	170928687	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	7884577	170928687	78321934	7	10267											
CACNA1E	777	broad.mit.edu	37	chr1	181693656	181693656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggataatctcgccaacGcccaggaactgaccaaggta	12	7	10	12	2	1	1	0	1	1	0	2	3	1	3	3	3	2	1	3	3	5	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:181693656G>A	uc009wxt.3	+	16	2320	c.2125G>A	c.(2125-2127)Gcc>Acc	p.A709T	CACNA1E_uc001gow.3_Missense_Mutation_p.A709T|CACNA1E_uc009wxs.3_Missense_Mutation_p.A709T	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	709					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCTCGCCAACGCCCAGGAACT	0.463													A	181693656	G	A	181693656	3	1	152	1	0	0	0	0	1	0	0	0	2568	1087	38	1	2191	1	CACNA1E	1	181693656	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	10764969	181693656	67556965	8	10268											
C4BPA	722	broad.mit.edu	37	chr1	207300203	207300203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaattcattgtgatgctgaTagcaaatggaatccttctcc	11	14	8	8	0	2	2	1	2	1	0	4	3	3	3	2	1	2	3	2	1	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:207300203T>C	uc001hfo.3	+	6	1046	c.852T>C	c.(850-852)gaT>gaC	p.D284D		NM_000715	NP_000706	P04003	C4BPA_HUMAN	Homo sapiens complement component 4 binding protein, alpha (C4BPA), mRNA.	284	Sushi 4.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GTGATGCTGATAGCAAATGGA	0.403													C	207300203	T	C	207300203	2	2	152	1	0	0	0	0	0	0	0	1	2271	1403	49	3		3	C4BPA	1	207300203	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	25606547	207300203	41950418	9	10269											
PARP1	142	broad.mit.edu	37	chr1	226550806	226550806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaacactttacctttgaCactgtgcttgcccttgggta	8	14	9	10	0	0	1	0	1	0	0	0	2	0	2	2	2	4	2	2	2	3	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:226550806C>T	uc001hqd.4	-	20	3013	c.2842G>A	c.(2842-2844)Gtc>Atc	p.V948I		NM_001618	NP_001609	P09874	PARP1_HUMAN	Homo sapiens poly (ADP-ribose) polymerase 1 (PARP1), mRNA.	948	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		TTACCTTTGACACTGTGCTTG	0.527								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					T	226550806	C	T	226550806	3	4	152	1	0	0	0	0	1	0	0	0	11530	478	17	2	214	2	PARP1	1	226550806	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	19250603	226550806	22699815	10	10270											
RYR2	6262	broad.mit.edu	37	chr1	237789020	237789020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatttaacaattagagggCgtctgctatccctggtagaa	11	12	11	7	1	1	3	0	1	1	2	2	3	2	3	1	2	2	2	1	2	6	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:237789020C>T	uc001hyl.1	+	39	6202	c.6082C>T	c.(6082-6084)Cgt>Tgt	p.R2028C		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2028	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATTAGAGGGCGTCTGCTATC	0.393													T	237789020	C	T	237789020	3	4	152	1	0	0	0	0	1	0	0	0	13860	768	27	1	6240	1	RYR2	1	237789020	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	11238214	237789020	11461601	11	10271											
OR2T27	403239	broad.mit.edu	37	chr1	248814164	248814164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggataaagtcggcatacaCggaataattgctctgctcca	14	9	9	9	2	1	0	0	0	1	0	3	2	2	2	1	3	3	3	1	3	6	4	rs144642254		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr1:248814164C>T	uc010pzo.2	-	0	22	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGCATACACGGAATAATTG	0.433													T	248814164	C	T	248814164	3	4	152	1	0	0	0	0	1	0	0	0	11097	536	19	1	934	1	OR2T27	1	248814164	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	11025144	248814164	436457	12	10272											
NCOA1	8648	broad.mit.edu	37	chr2	24929877	24929877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctttcctcctaatatttCgacattaagctctcccgttg	7	17	4	13	2	1	0	0	0	1	0	6	1	4	0	4	0	1	2	4	0	3	7			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:24929877C>T	uc002rfk.3	+	10	1797	c.1538C>T	c.(1537-1539)tCg>tTg	p.S513L	NCOA1_uc010eye.3_Missense_Mutation_p.S513L|NCOA1_uc002rfi.3_Missense_Mutation_p.S362L|NCOA1_uc002rfj.3_Missense_Mutation_p.S513L|NCOA1_uc002rfl.3_Missense_Mutation_p.S513L	NM_003743	NP_003734	Q15788	NCOA1_HUMAN	Homo sapiens nuclear receptor coactivator 1 (NCOA1), transcript variant 1, mRNA.	513	Interaction with STAT3.|Ser-rich.								PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTAATATTTCGACATTAAGC	0.418			T	PAX3	alveolar rhadomyosarcoma								T	24929877	C	T	24929877	3	4	152	1	0	0	0	0	1	0	0	0	10304	893	31	1	1572	1	NCOA1	2	24929877	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		24929877	218269496	13	10273											
FAM179A	165186	broad.mit.edu	37	chr2	29268218	29268218	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttctaccagcgcttgcTgggcgagtgcgtttcctgag	4	12	13	12	3	1	1	0	1	1	0	2	2	2	1	3	1	5	3	3	1	1	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:29268218T>A	uc010ezl.3	+	18	3015	c.2664T>A	c.(2662-2664)gcT>gcA	p.A888A	FAM179A_uc010ymm.2_Silent_p.A833A|FAM179A_uc002rmr.4_Silent_p.A415A|FAM179A_uc002rms.1_Silent_p.A186A	NM_199280	NP_954974	Q6ZUX3	F179A_HUMAN	Homo sapiens family with sequence similarity 179, member A (FAM179A), mRNA.	888							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CAGCGCTTGCTGGGCGAGTGC	0.627													A	29268218	T	A	29268218	2	1	152	1	0	0	0	0	0	0	0	1	5550	1567	55	5		5	FAM179A	2	29268218	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	4338341	29268218	213931155	14	10274											
CYP1B1	1545	broad.mit.edu	37	chr2	38302345	38302345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggcccaccgccgccgCgtttccgatcagtggccacg	4	6	12	19	7	1	0	1	0	0	0	2	1	2	0	7	2	0	1	7	2	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:38302345C>T	uc002rqo.2	-	1	589	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_000104	NP_000095	Q16678	CP1B1_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily B, polypeptide 1 (CYP1B1), mRNA.	63					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	ACCGCCGCCGCGTTTCCGATC	0.721													T	38302345	C	T	38302345	3	4	152	1	0	0	0	0	1	0	0	0	4184	768	27	1	1452	1	CYP1B1	2	38302345	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	9034127	38302345	204897028	15	10275											
ALMS1	7840	broad.mit.edu	37	chr2	73651879	73651879	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgaaaacaatttagcTgataaagatcaagtttcagt	15	12	8	6	0	2	3	2	2	0	1	2	3	2	3	1	1	2	2	1	1	7	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:73651879T>A	uc002sje.1	+	4	1197	c.1086T>A	c.(1084-1086)gcT>gcA	p.A362A	ALMS1_uc002sjf.1_Silent_p.A320A	NM_015120	NP_055935	Q8TCU4	ALMS1_HUMAN	Homo sapiens Alstrom syndrome 1 (ALMS1), mRNA.	362					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACAATTTAGCTGATAAAGATC	0.358													A	73651879	T	A	73651879	2	1	152	1	0	0	0	0	0	0	0	1	535	1567	55	5		5	ALMS1	2	73651879	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	35349534	73651879	169547494	16	10276											
DQX1	165545	broad.mit.edu	37	chr2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcactgagtggaggaCgggtaaacccaggggcagct	9	7	15	10	1	1	1	0	1	1	0	1	3	1	3	1	5	3	4	1	5	2	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:74747143C>T	uc010yrw.2	-	8	1679	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_uc002smc.3_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	505						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527													T	74747143	C	T	74747143	3	4	152	1	0	0	0	0	1	0	0	0	4790	536	19	1	655	1	DQX1	2	74747143	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	1095264	74747143	168452230	17	10277											
MRPL30	51263	broad.mit.edu	37	chr2	99811636	99811636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgcaaaattgaaagtaGttaagcatttgataaggttt	16	14	9	2	0	0	3	0	3	0	0	0	3	0	3	0	1	2	5	0	1	7	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:99811636G>C	uc002szu.3	+	4	535	c.337G>C	c.(337-339)Gtt>Ctt	p.V113L	MRPL30_uc002szl.1_Non-coding_Transcript|MRPL30_uc002szr.3_Missense_Mutation_p.V113L|MRPL30_uc002szv.3_Missense_Mutation_p.V113L	NM_145212	NP_660213	Q8TCC3	RM30_HUMAN	Homo sapiens mitochondrial ribosomal protein L30 (MRPL30), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	113					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATTGAAAGTAGTTAAGCATTT	0.333													C	99811636	G	C	99811636	3	2	152	1	0	0	0	0	1	0	0	0	9870	1029	36	4	351	4	MRPL30	2	99811636	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	25064493	99811636	143387737	18	10278											
THSD7B	80731	broad.mit.edu	37	chr2	138420998	138420998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatacagagataatgaaaTcaaatggtttcctggattac	15	12	8	6	0	1	2	1	1	0	1	2	4	2	3	1	2	2	2	1	2	6	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:138420998T>C	uc002tva.1	+	24	4414	c.4414T>C	c.(4414-4416)Tca>Cca	p.S1472P	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GATAATGAAATCAAATGGTTT	0.383													C	138420998	T	C	138420998	3	2	152	1	0	0	0	0	1	0	0	0	15980	1435	50	3	4514	3	THSD7B	2	138420998	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	38609362	138420998	104778375	19	10279											
XIRP2	129446	broad.mit.edu	37	chr2	168106391	168106391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccatcaatgattggtcGaaaagaagagagattaataa	18	8	11	4	1	1	4	1	1	0	3	2	7	1	5	1	2	0	0	1	2	6	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:168106391G>A	uc002udx.3	+	8	8578	c.8489G>A	c.(8488-8490)cGa>cAa	p.R2830Q	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.R2655Q|XIRP2_uc010fpq.3_Missense_Mutation_p.R2608Q|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2655					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATGATTGGTCGAAAAGAAGAG	0.398													A	168106391	G	A	168106391	3	1	152	1	0	0	0	0	1	0	0	0	17532	1058	37	1	8519	1	XIRP2	2	168106391	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	29685393	168106391	75092982	20	10280											
TTN	7273	broad.mit.edu	37	chr2	179431720	179431720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacaaatggatttttcAttagtactggtgcagattcc	12	13	9	7	0	1	1	1	0	0	1	2	3	2	2	1	2	3	3	1	2	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179431720A>G	uc021vsy.1	-	274	71660	c.71435T>C	c.(71434-71436)aTg>aCg	p.M23812T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.M17507T|TTN_uc021vta.1_Missense_Mutation_p.M17440T|TTN_uc021vtb.1_Missense_Mutation_p.M17315T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24739	Fibronectin type-III 73.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGATTTTTCATTAGTACTGG	0.403													G	179431720	A	G	179431720	3	3	152	1	0	0	0	0	1	0	0	0	16837	217	8	3	28988	3	TTN	2	179431720	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	11325329	179431720	63767653	21	10281											
TTN	7273	broad.mit.edu	37	chr2	179456867	179456867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaggtgaccactgggCgctggcaacatctctcctct	8	9	12	12	1	2	3	0	2	2	1	4	4	3	3	2	3	1	2	2	3	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:179456867C>T	uc021vsy.1	-	250	52285	c.52060G>A	c.(52060-52062)Gcc>Acc	p.A17354T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A11049T|TTN_uc021vta.1_Missense_Mutation_p.A10982T|TTN_uc021vtb.1_Missense_Mutation_p.A10857T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18281	Fibronectin type-III 26.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACCACTGGGCGCTGGCAACA	0.448													T	179456867	C	T	179456867	3	4	152	1	0	0	0	0	1	0	0	0	16837	768	27	1	48459	1	TTN	2	179456867	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	25147	179456867	63742506	22	10282											
SMARCAL1	50485	broad.mit.edu	37	chr2	217329391	217329391	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaaaatcccatctgtcatGtaagtggtcactaagtgtcg	11	12	9	9	1	3	0	2	0	1	0	5	0	4	0	1	1	0	2	1	1	4	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr2:217329391G>A	uc002vgc.4	+	13	2471	c.2141_splice	c.e13+1	p.I714_splice	SMARCAL1_uc002vgd.4_Splice_Site_p.I714_splice|SMARCAL1_uc010fvg.3_Splice_Site_p.I692_splice	NM_014140	NP_054859	Q9NZC9	SMAL1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1 (SMARCAL1), transcript variant 1, mRNA.	714					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CATCTGTCATGTAAGTGGTCA	0.363									Schimke Immuno-Osseous Dysplasia				A	217329391	G	A	217329391	5	1	152	1	0	0	0	0	0	0	1	0	14867	1391	48	2	2184	2	SMARCAL1	2	217329391	Splice_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	37872524	217329391	25869982	23	10283											
ALS2CL	259173	broad.mit.edu	37	chr3	46720751	46720751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcatacagggagtcGtcttcagagaggaggatgcc	9	8	14	10	1	3	1	2	0	1	1	4	5	3	4	2	3	3	0	2	3	1	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:46720751G>A	uc003cqa.2	-	14	1768	c.1575C>T	c.(1573-1575)gaC>gaT	p.D525D	ALS2CL_uc003cpx.2_5'Flank|ALS2CL_uc003cpy.2_5'Flank|ALS2CL_uc003cpz.2_Silent_p.D40D|ALS2CL_uc003cqc.2_Non-coding_Transcript|ALS2CL_uc003cqb.2_Silent_p.D525D	NM_001190707	NP_667340	Q60I27	AL2CL_HUMAN	Homo sapiens ALS2 C-terminal like (ALS2CL), transcript variant 2, mRNA.	525					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		ACAGGGAGTCGTCTTCAGAGA	0.627													A	46720751	G	A	46720751	2	1	152	1	0	0	0	0	0	0	0	1	551	1136	40	1		1	ALS2CL	3	46720751	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08		46720751	151301679	24	10284											
MORC1	27136	broad.mit.edu	37	chr3	108778663	108778663	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttacctttgtttctCtttaagattcttttgctttg	4	24	6	7	0	3	1	0	0	3	1	4	1	3	1	1	0	2	2	1	0	2	9			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:108778663C>A	uc003dxl.3	-	11	1108	c.1021G>T	c.(1021-1023)Gag>Tag	p.E341*	MORC1_uc011bhn.2_Nonsense_Mutation_p.E341*	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	341					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						CTTTGTTTCTCTTTAAGATTC	0.368													A	108778663	C	A	108778663	4	1	152	1	0	0	0	0	0	1	0	0	9777	922	32	4	2001	4	MORC1	3	108778663	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	62057912	108778663	89243767	25	10285											
GOLGB1	2804	broad.mit.edu	37	chr3	121410932	121410932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaaaacaatattctcctCttcctcctgggacagcaggt	10	13	6	12	0	3	0	0	0	3	0	6	1	5	1	3	2	2	1	3	2	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:121410932C>T	uc010hrc.3	-	13	7405	c.7279G>A	c.(7279-7281)Gag>Aag	p.E2427K	GOLGB1_uc003eei.4_Missense_Mutation_p.E2422K|GOLGB1_uc003eej.4_Missense_Mutation_p.E2388K|GOLGB1_uc021xcy.1_Missense_Mutation_p.E2347K	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	2422					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATATTCTCCTCTTCCTCCTGG	0.398													T	121410932	C	T	121410932	3	4	152	1	0	0	0	0	1	0	0	0	6618	922	32	2	2551	2	GOLGB1	3	121410932	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	12632269	121410932	76611498	26	10286											
CASR	846	broad.mit.edu	37	chr3	122004023	122004023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagcactgttacagaaaaCgtagtgaattcataaaatgg	16	9	10	6	1	1	2	1	1	0	1	1	2	1	2	0	2	3	4	0	2	7	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr3:122004023C>T	uc003eew.4	+	6	3690	c.3252C>T	c.(3250-3252)aaC>aaT	p.N1084N	CASR_uc003eev.4_Silent_p.N1074N	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	1074					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TTACAGAAAACGTAGTGAATT	0.522													T	122004023	C	T	122004023	2	4	152	1	0	0	0	0	0	0	0	1	2708	535	19	1		1	CASR	3	122004023	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	593091	122004023	76018407	27	10287											
TLR1	7096	broad.mit.edu	37	chr4	38798595	38798595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcctggccctgcgccGggtctgggtccactggcaca	4	10	13	14	2	1	0	0	0	1	0	3	0	3	0	4	4	1	2	4	4	1	2	rs144775976	byFrequency	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:38798595G>A	uc003gtl.3	-	3	2132	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	TLR1_uc021xnn.1_Missense_Mutation_p.R620W	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	620					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						GCCCTGCGCCGGGTCTGGGTC	0.517													A	38798595	G	A	38798595	3	1	152	1	0	0	0	0	1	0	0	0	16049	1115	39	1	506	1	TLR1	4	38798595	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		38798595	152355681	28	10288											
PDGFRA	5156	broad.mit.edu	37	chr4	55138611	55138611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcaccatggctcaactgggGgacagacggtgaggtgcaca	11	6	14	10	1	2	2	2	1	0	1	2	3	2	3	1	5	2	2	1	5	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138611G>A	uc003han.4	+	8	1619	c.1288G>A	c.(1288-1290)Gga>Aga	p.G430R	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.G324R|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	430	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCAACTGGGGGACAGACGGT	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55138611	G	A	55138611	3	1	152	1	0	0	0	0	1	0	0	0	11737	1233	43	2	1318	2	PDGFRA	4	55138611	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	16340016	55138611	136015665	29	10289											
PDGFRA	5156	broad.mit.edu	37	chr4	55138664	55138664	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgcttcctgatattgagtgGatgatatgcaaagatattaa	13	13	9	6	1	0	4	0	3	0	1	1	5	1	5	2	1	1	2	2	1	5	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:55138664G>C	uc003han.4	+	8	1672	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_Missense_Mutation_p.W341C|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	447	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATATTGAGTGGATGATATGCA	0.438			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55138664	G	C	55138664	3	2	152	1	0	0	0	0	1	0	0	0	11737	1183	41	4	1371	4	PDGFRA	4	55138664	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	53	55138664	136015612	30	10290											
FRAS1	80144	broad.mit.edu	37	chr4	79418093	79418093	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaataacatggccaccatCaccatatccaatgatgaaga	18	7	6	10	0	1	4	1	2	0	2	2	4	2	4	4	1	1	0	4	1	6	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:79418093C>A	uc003hlb.2	+	59	9533	c.9093C>A	c.(9091-9093)atC>atA	p.I3031I	FRAS1_uc003hlc.1_Silent_p.I33I	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3026	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGGCCACCATCACCATATCCA	0.408													A	79418093	C	A	79418093	2	1	152	1	0	0	0	0	0	0	0	1	6093	816	29	4		4	FRAS1	4	79418093	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	24279429	79418093	111736183	31	10291											
LARP7	51574	broad.mit.edu	37	chr4	113568448	113568448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggacacaagcaacaccaGcatcagtaaaatgaaaagat	20	5	7	9	0	1	2	1	1	0	1	1	3	1	3	1	1	3	3	1	1	6	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:113568448G>A	uc003iaz.3	+	8	1226	c.761G>A	c.(760-762)aGc>aAc	p.S254N	LARP7_uc003iay.3_Missense_Mutation_p.S247N|LARP7_uc003iba.3_Missense_Mutation_p.S168N|LARP7_uc003ibb.3_Missense_Mutation_p.S247N	NM_016648	NP_057732	Q4G0J3	LARP7_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 7 (LARP7), transcript variant 1, mRNA.	247	Lys-rich.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		agcaacaCCAGCATCAGTAAA	0.403													A	113568448	G	A	113568448	3	1	152	1	0	0	0	0	1	0	0	0	8692	971	34	2	762	2	LARP7	4	113568448	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	34150355	113568448	77585828	32	10292											
ARFIP1	27236	broad.mit.edu	37	chr4	153809448	153809448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtcaaattgaaatttctaGaagaaaataaggtaaattct	18	13	6	4	0	3	3	1	1	2	2	3	3	3	3	0	1	0	1	0	1	9	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:153809448G>A	uc003imz.3	+	7	1231	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	ARFIP1_uc003inb.3_Missense_Mutation_p.E287K|ARFIP1_uc003ina.3_Missense_Mutation_p.E287K|ARFIP1_uc003inc.3_Missense_Mutation_p.E319K|ARFIP1_uc011cij.2_Missense_Mutation_p.E139K	NM_001025595	NP_001020766	P53367	ARFP1_HUMAN	Homo sapiens ADP-ribosylation factor interacting protein 1 (ARFIP1), transcript variant 1, mRNA.	319	AH.				intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					GAAATTTCTAGAAGAAAATAA	0.353													A	153809448	G	A	153809448	3	1	152	1	0	0	0	0	1	0	0	0	857	943	33	2	981	2	ARFIP1	4	153809448	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	40241000	153809448	37344828	33	10293											
FSTL5	56884	broad.mit.edu	37	chr4	162459448	162459448	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgtgaacctcactgccAtttgctgaaaaaagaaggga	14	10	9	8	0	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	6	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr4:162459448A>G	uc003iqh.3	-	9	1618	c.1182T>C	c.(1180-1182)aaT>aaC	p.N394N	FSTL5_uc003iqi.3_Silent_p.N393N|FSTL5_uc010iqv.3_Silent_p.N393N	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	394	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCTCACTGCCATTTGCTGAAA	0.408													G	162459448	A	G	162459448	2	3	152	1	0	0	0	0	0	0	0	1	6132	214	8	3		3	FSTL5	4	162459448	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	8650000	162459448	28694828	34	10294											
IRX2	153572	broad.mit.edu	37	chr5	2749779	2749779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgagagtggccgtggcGtcccgcgtggcgttcttgcg	2	10	17	12	6	1	1	0	1	1	1	2	2	2	1	3	3	1	1	3	3	0	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:2749779G>A	uc003jda.3	-	1	614	c.372C>T	c.(370-372)gaC>gaT	p.D124D	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.D124D	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	124						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D124D(2)|p.R123Q(1)		breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		TGGCCGTGGCGTCCCGCGTGG	0.652													A	2749779	G	A	2749779	2	1	152	1	0	0	0	0	0	0	0	1	7902	1136	40	1		1	IRX2	5	2749779	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08		2749779	178165481	35	10295											
BDP1	55814	broad.mit.edu	37	chr5	70813215	70813215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagaacacagaatgtatGaaaatcaaagtcaggtggtt	16	10	9	6	0	2	3	2	1	0	2	3	3	3	3	1	2	1	2	1	2	6	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:70813215G>A	uc003kbp.1	+	21	5190	c.4927G>A	c.(4927-4929)Gaa>Aaa	p.E1643K	BDP1_uc003kbo.3_Missense_Mutation_p.E1643K	NM_018429	NP_060899	A6H8Y1	BDP1_HUMAN	Homo sapiens B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB (BDP1), mRNA.	1643					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		CAGAATGTATGAAAATCAAAG	0.303													A	70813215	G	A	70813215	3	1	152	1	0	0	0	0	1	0	0	0	1400	1291	45	2	5013	2	BDP1	5	70813215	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	68063436	70813215	110102045	36	10296											
JMY	133746	broad.mit.edu	37	chr5	78612055	78612055	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggagcatccatgaagctctTagaagaattaaagaagcatc	16	8	9	8	1	1	4	0	1	1	3	3	5	2	5	1	1	3	3	1	1	7	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78612055T>C	uc003kfx.4	+	9	3441	c.2892T>C	c.(2890-2892)ctT>ctC	p.L964L		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	964					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ATGAAGCTCTTAGAAGAATTA	0.438													C	78612055	T	C	78612055	2	2	152	1	0	0	0	0	0	0	0	1	8015	1741	61	3		3	JMY	5	78612055	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	7798840	78612055	102303205	37	10297											
HOMER1	9456	broad.mit.edu	37	chr5	78697771	78697771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataggcagcaagttgctgtTtccattgtttcacattggca	9	14	10	8	0	1	0	1	0	0	0	2	1	2	0	1	2	2	7	1	2	2	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:78697771T>C	uc003kfy.3	-	5	1738	c.635A>G	c.(634-636)aAa>aGa	p.K212R	HOMER1_uc010jab.3_Intron|HOMER1_uc010jac.3_Intron|HOMER1_uc010jad.3_Missense_Mutation_p.K38R	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	212					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		AAGTTGCTGTTTCCATTGTTT	0.478													C	78697771	T	C	78697771	3	2	152	1	0	0	0	0	1	0	0	0	7333	1841	64	3	445	3	HOMER1	5	78697771	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	85716	78697771	102217489	38	10298											
ELL2	22936	broad.mit.edu	37	chr5	95234136	95234136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataggctttggacactttaGtagaacggaaccagggggta	12	9	13	7	1	0	1	0	0	0	1	0	3	0	3	1	5	2	3	1	5	6	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:95234136G>T	uc003klr.4	-	7	1683	c.1333C>A	c.(1333-1335)Cta>Ata	p.L445I		NM_012081	NP_036213	O00472	ELL2_HUMAN	Homo sapiens elongation factor, RNA polymerase II, 2 (ELL2), mRNA.	445					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		GGACACTTTAGTAGAACGGAA	0.373													T	95234136	G	T	95234136	3	4	152	1	0	0	0	0	1	0	0	0	5104	1020	36	4	609	4	ELL2	5	95234136	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	16536365	95234136	85681124	39	10299											
APC	324	broad.mit.edu	37	chr5	112174282	112174282	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtaagttttgcagttaTggtcaatacccagccgacct	12	11	9	9	1	1	0	1	0	0	0	1	2	1	0	3	1	3	4	3	1	5	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:112174282T>C	uc003kpz.4	+	16	3184	c.2991T>C	c.(2989-2991)taT>taC	p.Y997Y	APC_uc011cvt.2_Silent_p.Y979Y|APC_uc003kpy.4_Silent_p.Y997Y|APC_uc010jbz.3_Silent_p.Y714Y|APC_uc010jca.3_Silent_p.Y297Y	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	997	Responsible for down-regulation through a process mediated by direct ubiquitination.|Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.Y997fs*8(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTGCAGTTATGGTCAATACC	0.343		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			C	112174282	T	C	112174282	2	2	152	1	0	0	0	0	0	0	0	1	765	1471	51	3		3	APC	5	112174282	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	16940146	112174282	68740978	40	10300											
MAML1	9794	broad.mit.edu	37	chr5	179201677	179201677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgcctcacagatgggCggtcgggcggggctgcactg	5	6	17	13	3	1	1	1	0	0	1	2	1	1	1	2	5	3	2	2	5	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr5:179201677C>T	uc003mkm.3	+	4	3113	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	950					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACAGATGGGCGGTCGGGCGG	0.706													T	179201677	C	T	179201677	2	4	152	1	0	0	0	0	0	0	0	1	9280	755	27	1		1	MAML1	5	179201677	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	67027395	179201677	1713583	41	10301											
MYLK4	340156	broad.mit.edu	37	chr6	2685573	2685573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttagactcgaaggcatCgtacagctggatgaggttcg	9	11	13	8	3	1	2	0	1	1	1	4	4	1	3	0	3	2	5	0	3	3	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:2685573C>A	uc003mty.4	-	5	799	c.502G>T	c.(502-504)Gat>Tat	p.D168Y		NM_001012418	NP_001012418	Q86YV6	MYLK4_HUMAN	Homo sapiens myosin light chain kinase family, member 4 (MYLK4), mRNA.	168	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				TCGAAGGCATCGTACAGCTGG	0.557													A	2685573	C	A	2685573	3	1	152	1	0	0	0	0	1	0	0	0	10135	884	31	4	692	4	MYLK4	6	2685573	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		2685573	168429494	42	10302											
HIVEP1	3096	broad.mit.edu	37	chr6	12164550	12164550	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaaggcacattctgaagtTtttacaaagccctcaggcca	12	10	8	11	0	2	2	1	2	1	0	2	2	2	2	2	2	2	2	2	2	4	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:12164550T>C	uc003nac.3	+	8	8192	c.8013T>C	c.(8011-8013)gtT>gtC	p.V2671V	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	2671					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATTCTGAAGTTTTTACAAAGC	0.577													C	12164550	T	C	12164550	2	2	152	1	0	0	0	0	0	0	0	1	7241	1828	64	3		3	HIVEP1	6	12164550	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	9478977	12164550	158950517	43	10303											
RNF5	6048	broad.mit.edu	37	chr6	32147882	32147882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaccgtcttcaatgcccatGagcctttccgccggggtaca	7	9	9	16	3	2	1	1	1	1	0	3	1	3	1	6	2	3	1	6	2	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:32147882G>A	uc003oaj.4	+	4	551	c.424G>A	c.(424-426)Gag>Aag	p.E142K	AGPAT1_uc003oag.3_5'Flank|AGPAT1_uc003oah.3_5'Flank	NM_006913	NP_008844	Q99942	RNF5_HUMAN	Homo sapiens ring finger protein 5 (RNF5), mRNA.	142					ER-associated misfolded protein catabolic process|protein K48-linked ubiquitination|protein K63-linked ubiquitination	endoplasmic reticulum membrane|integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|lung(7)|urinary_tract(2)	10						CAATGCCCATGAGCCTTTCCG	0.557													A	32147882	G	A	32147882	3	1	152	1	0	0	0	0	1	0	0	0	13588	1291	45	2	442	2	RNF5	6	32147882	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	19983332	32147882	138967185	44	10304											
COL11A2	1302	broad.mit.edu	37	chr6	33133402	33133402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgggtccctgttggccgCctcatctgctcgatctcctc	2	13	9	17	2	3	0	1	0	2	0	8	1	5	0	5	2	1	2	5	2	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:33133402C>A	uc003ocx.1	-	62	4902	c.4674G>T	c.(4672-4674)agG>agT	p.R1558S	COL11A2_uc010jul.1_Missense_Mutation_p.R128S|COL11A2_uc003ocy.1_Missense_Mutation_p.R1472S|COL11A2_uc003ocz.1_Missense_Mutation_p.R1451S	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1558	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.M1557I(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGTTGGCCGCCTCATCTGCT	0.662													A	33133402	C	A	33133402	3	1	152	1	0	0	0	0	1	0	0	0	3699	738	26	4	552	4	COL11A2	6	33133402	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	985520	33133402	137981665	45	10305											
TFEB	7942	broad.mit.edu	37	chr6	41654875	41654875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcccaactccttgatgcGgtcattgatgttgaaccttc	8	14	7	12	1	1	3	1	3	0	0	4	3	3	3	3	1	3	1	3	1	2	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr6:41654875G>A	uc021yzl.1	-	5	962	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	TFEB_uc003oqs.1_Missense_Mutation_p.R254C|TFEB_uc003oqt.1_Missense_Mutation_p.R254C|TFEB_uc003oqu.1_Missense_Mutation_p.R254C|TFEB_uc003oqv.1_Missense_Mutation_p.R254C|TFEB_uc003oqr.1_Missense_Mutation_p.R169C	NM_007162	NP_009093	P19484	TFEB_HUMAN	Homo sapiens transcription factor EB (TFEB), transcript variant 1, mRNA.	254					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			TCCTTGATGCGGTCATTGATG	0.537			T	ALPHA	renal (childhood epithelioid)								A	41654875	G	A	41654875	3	1	152	1	0	0	0	0	1	0	0	0	15901	1116	39	1	682	1	TFEB	6	41654875	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	8521473	41654875	129460192	46	10306											
C7orf31	136895	broad.mit.edu	37	chr7	25182279	25182279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaaatcatgagtgtacGaagtgagccagtgggacctc	12	9	12	8	1	1	2	1	2	0	0	2	4	1	3	2	1	2	2	2	1	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:25182279G>A	uc003sxn.1	-	7	1400	c.839C>T	c.(838-840)tCg>tTg	p.S280L		NM_138811	NP_620166	Q8N865	CG031_HUMAN	Homo sapiens chromosome 7 open reading frame 31 (C7orf31), mRNA.	280										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ATGAGTGTACGAAGTGAGCCA	0.368													A	25182279	G	A	25182279	3	1	152	1	0	0	0	0	1	0	0	0	2411	1059	37	1	945	1	C7orf31	7	25182279	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		25182279	133956384	47	10307											
VPS41	27072	broad.mit.edu	37	chr7	38816326	38816326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaaagtacaacaagctgatCacagagaggtgcaagtccac	16	5	10	10	1	1	2	1	1	0	1	2	4	2	2	1	1	4	3	1	1	5	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:38816326C>T	uc003tgy.3	-	10	861	c.835G>A	c.(835-837)Gat>Aat	p.D279N	VPS41_uc003tgz.3_Missense_Mutation_p.D254N|VPS41_uc010kxn.3_Missense_Mutation_p.D190N	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	279					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACAAGCTGATCACAGAGAGGT	0.413													T	38816326	C	T	38816326	3	4	152	1	0	0	0	0	1	0	0	0	17312	826	29	2	1805	2	VPS41	7	38816326	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	13634047	38816326	120322337	48	10308											
URGCP	55665	broad.mit.edu	37	chr7	43917540	43917540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagctggcagaactccttctCcacttgggctgcctttctcc	5	12	9	15	0	2	1	0	0	2	1	5	2	3	1	4	2	3	3	4	2	1	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:43917540C>T	uc003tiw.3	-	5	1579	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	URGCP_uc022acg.1_Intron|URGCP_uc003tiu.3_Missense_Mutation_p.E465K|URGCP_uc003tiv.3_Missense_Mutation_p.E433K|URGCP_uc003tix.3_Missense_Mutation_p.E499K|URGCP_uc003tiy.3_Missense_Mutation_p.E465K|URGCP_uc003tiz.3_Missense_Mutation_p.E465K|URGCP_uc011kbj.2_Missense_Mutation_p.E465K	NM_001077663	NP_001071131	Q8TCY9	URGCP_HUMAN	Homo sapiens upregulator of cell proliferation (URGCP), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	508					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACTCCTTCTCCACTTGGGCT	0.607													T	43917540	C	T	43917540	3	4	152	1	0	0	0	0	1	0	0	0	17128	864	30	2	1277	2	URGCP	7	43917540	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	5101214	43917540	115221123	49	10309											
POM121L12	285877	broad.mit.edu	37	chr7	53103790	53103790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgaccatcgggatcgcGccccctgagcgtcaggagag	7	5	15	14	5	1	3	1	2	0	1	3	5	1	4	4	3	1	0	4	3	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103790G>A	uc003tpz.3	+	0	442	c.426G>A	c.(424-426)gcG>gcA	p.A142A		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	142								p.A142V(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TCGGGATCGCGCCCCCTGAGC	0.721													A	53103790	G	A	53103790	2	1	152	1	0	0	0	0	0	0	0	1	12318	1074	38	1		1	POM121L12	7	53103790	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	9186250	53103790	106034873	50	10310											
POM121L12	285877	broad.mit.edu	37	chr7	53103915	53103915	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgggggcgctcagccAgtgccccaagggaagcgcta	7	6	15	13	2	2	0	1	0	1	0	2	1	2	1	3	3	4	3	3	3	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:53103915A>T	uc003tpz.3	+	0	567	c.551A>T	c.(550-552)cAg>cTg	p.Q184L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	184								p.Q184H(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GCGCTCAGCCAGTGCCCCAAG	0.711													T	53103915	A	T	53103915	3	4	152	1	0	0	0	0	1	0	0	0	12318	188	7	5	553	5	POM121L12	7	53103915	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	125	53103915	106034748	51	10311											
DUS4L	11062	broad.mit.edu	37	chr7	107217955	107217955	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggtatttaatgctctgTcaagcacatcagcaatcata	15	11	7	8	0	4	0	3	0	1	0	4	0	4	0	0	1	3	4	0	1	6	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:107217955T>G	uc003veh.3	+	7	1237	c.904T>G	c.(904-906)Tca>Gca	p.S302A	DUS4L_uc011klw.2_Non-coding_Transcript|DUS4L_uc011klx.2_Missense_Mutation_p.S181A|DUS4L_uc022ajw.1_Missense_Mutation_p.S181A|DUS4L_uc010ljl.3_Missense_Mutation_p.S212A|BCAP29_uc003vej.2_5'Flank|BCAP29_uc011kly.1_5'Flank	NM_181581	NP_853559	O95620	DUS4L_HUMAN	Homo sapiens dihydrouridine synthase 4-like (S. cerevisiae) (DUS4L), mRNA.	302					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TAATGCTCTGTCAAGCACATC	0.353													G	107217955	T	G	107217955	3	3	152	1	0	0	0	0	1	0	0	0	4847	1667	58	5	926	5	DUS4L	7	107217955	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	54114040	107217955	51920708	52	10312											
TES	26136	broad.mit.edu	37	chr7	115889257	115889257	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgacgaatccagttgcTgccaagaagaatgtctccat	13	11	8	9	1	1	3	0	1	1	2	3	4	2	3	3	0	2	2	3	0	5	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:115889257T>A	uc003vho.3	+	2	512	c.297T>A	c.(295-297)gcT>gcA	p.A99A	TES_uc011kmx.2_Silent_p.A99A|TES_uc011kmy.2_Intron|TES_uc010lka.2_Silent_p.A90A|TES_uc003vhp.3_Silent_p.A90A|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	99	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATCCAGTTGCTGCCAAGAAGA	0.383													A	115889257	T	A	115889257	2	1	152	1	0	0	0	0	0	0	0	1	15865	1567	55	5		5	TES	7	115889257	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	8671302	115889257	43249406	53	10313											
GRM8	2918	broad.mit.edu	37	chr7	126542691	126542691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaaaccacacatttcttCgattattggcaagagttcgg	11	12	8	10	2	1	1	0	0	1	1	3	2	1	1	1	2	2	3	1	2	3	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:126542691C>T	uc003vlr.2	-	4	1372	c.1061G>A	c.(1060-1062)cGa>cAa	p.R354Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R354Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R75Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	354					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CACATTTCTTCGATTATTGGC	0.348										HNSCC(24;0.065)			T	126542691	C	T	126542691	3	4	152	1	0	0	0	0	1	0	0	0	6858	884	31	1	1739	1	GRM8	7	126542691	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	10653434	126542691	32595972	54	10314											
AGAP3	116988	broad.mit.edu	37	chr7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaggaacgctggataCgggccaagtatgaacagaag	16	4	15	6	2	0	3	0	1	0	2	0	6	0	5	1	4	3	2	1	4	7	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr7:150840450C>T	uc003wjg.1	+	16	2299	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622													T	150840450	C	T	150840450	3	4	152	1	0	0	0	0	1	0	0	0	369	527	19	1	2429	1	AGAP3	7	150840450	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	24297759	150840450	8298213	55	10315											
CLVS1	157807	broad.mit.edu	37	chr8	62212806	62212806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattacggcaggaagatTcttttgctgtttgcagccaa	10	12	10	9	1	1	1	0	0	1	1	1	3	1	2	2	2	4	4	2	2	3	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr8:62212806T>C	uc003xuh.3	+	1	744	c.420T>C	c.(418-420)atT>atC	p.I140I	CLVS1_uc003xug.2_Silent_p.I140I|CLVS1_uc003xui.3_Intron	NM_173519	NP_775790	Q8IUQ0	CLVS1_HUMAN	Homo sapiens clavesin 1 (CLVS1), mRNA.	140	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GCAGGAAGATTCTTTTGCTGT	0.448													C	62212806	T	C	62212806	2	2	152	1	0	0	0	0	0	0	0	1	3602	1771	62	3		3	CLVS1	8	62212806	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08		62212806	84151216	56	10316											
LAMC3	10319	broad.mit.edu	37	chr9	133948659	133948659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaggaaggtcccagtcagCcgaccaaatggagccacctg	11	5	11	14	1	2	0	2	0	0	0	3	3	3	2	5	3	2	0	5	3	2	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:133948659C>T	uc004caa.1	+	19	3543	c.3445C>T	c.(3445-3447)Ccg>Tcg	p.P1149S		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1149	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TCCCAGTCAGCCGACCAAATG	0.582													T	133948659	C	T	133948659	3	4	152	1	0	0	0	0	1	0	0	0	8675	739	26	2	3523	2	LAMC3	9	133948659	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		133948659	7264772	57	10317											
KCNT1	57582	broad.mit.edu	37	chr9	138657034	138657034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagttctacgcccacccccGgctccaggtgaggcccctta	6	7	10	18	3	1	1	0	1	1	0	2	2	2	1	6	3	1	2	6	3	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr9:138657034G>A	uc011mdq.2	+	11	1267	c.1193G>A	c.(1192-1194)cGg>cAg	p.R398Q	KCNT1_uc011mdr.2_Missense_Mutation_p.R225Q|KCNT1_uc010nbf.3_Missense_Mutation_p.R353Q|KCNT1_uc004cgo.1_Missense_Mutation_p.R147Q	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	398						membrane	binding|calcium-activated potassium channel activity	p.P397T(1)|p.R398R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		GCCCACCCCCGGCTCCAGGTG	0.642													A	138657034	G	A	138657034	3	1	152	1	0	0	0	0	1	0	0	0	8149	1116	39	1	1239	1	KCNT1	9	138657034	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	4708375	138657034	2556397	58	10318											
KIAA1462	57608	broad.mit.edu	37	chr10	30315264	30315264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcctgaagctcaggactctCatccgtgacactgagctcac	9	10	8	14	1	3	3	3	3	1	0	6	4	5	4	2	1	2	2	2	1	1	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:30315264C>T	uc009xle.2	-	2	3950	c.3813G>A	c.(3811-3813)atG>atA	p.M1271I	KIAA1462_uc001iux.3_Missense_Mutation_p.M1271I|KIAA1462_uc001iuy.3_Intron|KIAA1462_uc001iuz.3_Missense_Mutation_p.M1133I	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	1271								p.R1270W(1)		breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGACTCTCATCCGTGACA	0.582													T	30315264	C	T	30315264	3	4	152	1	0	0	0	0	1	0	0	0	8292	826	29	2	274	2	KIAA1462	10	30315264	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		30315264	105219483	59	10319											
RET	5979	broad.mit.edu	37	chr10	43604497	43604497	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggctggttctcaaccggaAcctctccatctcggagaacc	9	8	10	14	2	3	1	1	0	3	1	6	3	3	2	4	4	3	2	4	4	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:43604497A>T	uc001jal.3	+	5	1272	c.1082A>T	c.(1081-1083)aAc>aTc	p.N361I	RET_uc001jak.1_Missense_Mutation_p.N361I|RET_uc010qez.1_Missense_Mutation_p.N107I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	361					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.R360W(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CTCAACCGGAACCTCTCCATC	0.597		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				T	43604497	A	T	43604497	3	4	152	1	0	0	0	0	1	0	0	0	13323	43	2	5	1104	5	RET	10	43604497	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	13289233	43604497	91930250	60	10320											
GPRIN2	9721	broad.mit.edu	37	chr10	47000008	47000008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctggaggaggtgccGtcccctgtgcgggatgtgcg	4	8	17	12	3	0	0	0	0	0	0	2	3	2	3	5	4	4	0	5	4	0	0	rs111800394		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:47000008G>A	uc001jec.3	+	2	1263	c.1128G>A	c.(1126-1128)ccG>ccA	p.P376P	GPRIN2_uc021ppt.1_Silent_p.P376P	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	376										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGGAGGTGCCGTCCCCTGTGC	0.657													A	47000008	G	A	47000008	2	1	152	1	0	0	0	0	0	0	0	1	6785	1132	40	1		1	GPRIN2	10	47000008	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	3395511	47000008	88534739	61	10321											
ATRNL1	26033	broad.mit.edu	37	chr10	117061475	117061475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtgcagcagtacgaaaCgatgtgttgactctaatgcc	10	11	12	8	2	1	1	0	1	1	0	1	3	1	1	1	1	5	4	1	1	3	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr10:117061475C>T	uc001lcg.3	+	16	3126	c.2740C>T	c.(2740-2742)Cga>Tga	p.R914*	ATRNL1_uc010qsm.2_Nonsense_Mutation_p.R89*|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	914	PSI 4.					integral to membrane	sugar binding	p.R914*(2)|p.R914Q(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CAGTACGAAACGATGTGTTGA	0.453													T	117061475	C	T	117061475	4	4	152	1	0	0	0	0	0	1	0	0	1212	528	19	1	2806	1	ATRNL1	10	117061475	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	70061467	117061475	18473272	62	10322											
TSPAN4	7106	broad.mit.edu	37	chr11	866600	866600	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatgaccatgtactgccaAgtggtcaaggcagacaccta	12	7	10	12	0	1	2	1	1	0	1	1	2	1	2	4	2	2	2	4	2	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:866600A>G	uc001lsd.1	+	8	896	c.687A>G	c.(685-687)caA>caG	p.Q229Q	TSPAN4_uc001lse.1_Silent_p.Q165Q|TSPAN4_uc001lsf.1_Silent_p.Q229Q|TSPAN4_uc001lsg.1_Silent_p.Q229Q|TSPAN4_uc001lsh.1_Silent_p.Q229Q|TSPAN4_uc001lsi.1_Silent_p.Q229Q|TSPAN4_uc001lsj.1_Silent_p.Q229Q	NM_003271	NP_001020410	O14817	TSN4_HUMAN	Homo sapiens tetraspanin 4 (TSPAN4), transcript variant 5, mRNA.	229					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTACTGCCAAGTGGTCAAGG	0.642													G	866600	A	G	866600	2	3	152	1	0	0	0	0	0	0	0	1	16750	69	3	3		3	TSPAN4	11	866600	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08		866600	134139916	63	10323											
OR51S1	119692	broad.mit.edu	37	chr11	4870245	4870245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaagaagtgcattgggCggtgcagggcgggctgcagg	9	5	21	6	2	0	2	0	0	0	2	0	3	0	3	0	6	3	4	0	6	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:4870245C>T	uc010qyo.2	-	0	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H		NM_001004758	NP_001004758	Q8NGJ8	O51S1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily S, member 1 (OR51S1), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R65H(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGCATTGGGCGGTGCAGGGC	0.572													T	4870245	C	T	4870245	3	4	152	1	0	0	0	0	1	0	0	0	11181	768	27	1	780	1	OR51S1	11	4870245	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	4003645	4870245	130136271	64	10324											
RCN1	5954	broad.mit.edu	37	chr11	32119964	32119964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgccacgtgatgagAgaagattcaaagctgcagac	14	7	12	8	1	1	6	1	2	0	4	1	7	1	6	1	0	4	3	1	0	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:32119964A>G	uc010reb.2	+	2	783	c.517A>G	c.(517-519)Aga>Gga	p.R173G	RCN1_uc021qfp.1_Missense_Mutation_p.R7G|RCN1_uc001mtk.3_Missense_Mutation_p.R7G	NM_002901	NP_002892	Q15293	RCN1_HUMAN	Homo sapiens reticulocalbin 1, EF-hand calcium binding domain (RCN1), mRNA.	173	EF-hand 3.					endoplasmic reticulum lumen	calcium ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					ACGTGATGAGAGAAGATTCAA	0.433													G	32119964	A	G	32119964	3	3	152	1	0	0	0	0	1	0	0	0	13267	296	11	3	527	3	RCN1	11	32119964	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	27249719	32119964	102886552	65	10325											
OR4C16	219428	broad.mit.edu	37	chr11	55340233	55340233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgtgcagtgagttatgtCatgctaatattctcctatgt	9	18	8	6	0	2	1	1	1	1	0	3	1	2	1	1	0	2	3	1	0	4	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55340233C>T	uc010rih.2	+	0	630	c.630C>T	c.(628-630)gtC>gtT	p.V210V		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	210					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)				TGAGTTATGTCATGCTAATAT	0.433													T	55340233	C	T	55340233	2	4	152	1	0	0	0	0	0	0	0	1	11125	813	29	2		2	OR4C16	11	55340233	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	23220269	55340233	79666283	66	10326											
OR5D18	219438	broad.mit.edu	37	chr11	55587827	55587827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccgcaaagccttctccaCctgtgcctcccacctgactg	6	8	8	19	2	1	1	0	1	1	0	3	1	2	1	7	0	2	1	7	0	1	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:55587827C>A	uc010rin.2	+	0	722	c.722C>A	c.(721-723)aCc>aAc	p.T241N		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T241N(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTTCTCCACCTGTGCCTCC	0.507													A	55587827	C	A	55587827	3	1	152	1	0	0	0	0	1	0	0	0	11233	507	18	4	724	4	OR5D18	11	55587827	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	247594	55587827	79418689	67	10327											
LPXN	9404	broad.mit.edu	37	chr11	58295179	58295179	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaagaaggagccagtagaAaaactggtgaagcagtcctg	16	6	12	7	0	1	3	1	1	0	2	2	4	2	4	2	2	3	2	2	2	6	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:58295179A>G	uc001nmw.3	-	8	1054	c.909T>C	c.(907-909)ttT>ttC	p.F303F	LPXN_uc009ymp.3_Silent_p.F173F|LPXN_uc010rkj.2_Silent_p.F308F|LPXN_uc010rkk.2_Silent_p.F283F	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	303	LIM zinc-binding 3.				cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AGCCAGTAGAAAAACTGGTGA	0.473													G	58295179	A	G	58295179	2	3	152	1	0	0	0	0	0	0	0	1	8999	11	1	3		3	LPXN	11	58295179	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	2707352	58295179	76711337	68	10328											
TYR	7299	broad.mit.edu	37	chr11	88911588	88911588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcatccccatagggacctAtggccaaatgaaaaatggat	14	9	9	9	0	1	1	1	1	0	0	2	3	2	3	4	3	0	0	4	3	5	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:88911588A>G	uc001pcs.3	+	0	549	c.467A>G	c.(466-468)tAt>tGt	p.Y156C		NM_000372	NP_000363	P14679	TYRO_HUMAN	Homo sapiens tyrosinase (oculocutaneous albinism IA) (TYR), mRNA.	156					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	ATAGGGACCTATGGCCAAATG	0.408													G	88911588	A	G	88911588	3	3	152	1	0	0	0	0	1	0	0	0	16915	449	16	3	469	3	TYR	11	88911588	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	30616409	88911588	46094928	69	10329											
FAT3	120114	broad.mit.edu	37	chr11	92577445	92577445	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttgatgtggtcgtgcatgtgGagcagttggtgcatgagatg	7	13	17	4	1	0	2	0	2	0	1	1	4	0	3	0	3	3	4	0	3	0	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:92577445G>C	uc001pdj.4	+	17	10929	c.10912G>C	c.(10912-10914)Gag>Cag	p.E3638Q	FAT3_uc001pdi.4_Missense_Mutation_p.E78Q	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3638	Cadherin 33.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CGTGCATGTGGAGCAGTTGGT	0.557										TCGA Ovarian(4;0.039)			C	92577445	G	C	92577445	3	2	152	1	0	0	0	0	1	0	0	0	5740	1175	41	4	10982	4	FAT3	11	92577445	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3665857	92577445	42429071	70	10330											
OR10G8	219869	broad.mit.edu	37	chr11	123901051	123901051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagcctttcagacctgtgCctcccactgtatcgtggtcc	6	11	9	15	1	1	2	1	0	0	2	4	2	3	2	5	1	2	1	5	1	1	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr11:123901051C>G	uc001pzp.1	+	0	722	c.722C>G	c.(721-723)gCc>gGc	p.A241G		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CAGACCTGTGCCTCCCACTGT	0.547													G	123901051	C	G	123901051	3	3	152	1	0	0	0	0	1	0	0	0	10979	739	26	4	724	4	OR10G8	11	123901051	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	31323606	123901051	11105465	71	10331											
CACNA1C	775	broad.mit.edu	37	chr12	2675631	2675631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgcagaaggaagtgcCgcgccgcagtcaagtctaat	10	8	13	10	3	3	1	1	0	2	1	3	2	3	2	2	2	2	3	2	2	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:2675631C>T	uc009zdu.1	+	11	1865	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	CACNA1C_uc001qkc.2_Missense_Mutation_p.R518C|CACNA1C_uc001qjz.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkd.2_Missense_Mutation_p.R518C|CACNA1C_uc001qke.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkf.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdw.1_Missense_Mutation_p.R518C|CACNA1C_uc001qkg.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkh.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkl.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkj.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkk.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkn.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkm.2_Missense_Mutation_p.R518C|CACNA1C_uc001qko.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkp.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkq.2_Missense_Mutation_p.R518C|CACNA1C_uc001qku.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkr.2_Missense_Mutation_p.R518C|CACNA1C_uc001qks.2_Missense_Mutation_p.R518C|CACNA1C_uc001qkt.2_Missense_Mutation_p.R518C|CACNA1C_uc009zdv.1_Missense_Mutation_p.R515C|CACNA1C_uc001qkb.2_Missense_Mutation_p.R518C|CACNA1C_uc001qka.1_Missense_Mutation_p.R53C|CACNA1C_uc001qki.1_Missense_Mutation_p.R254C|CACNA1C_uc009zdy.1_Missense_Mutation_p.R183C|CACNA1C_uc001qkv.1_Missense_Mutation_p.R88C	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	518					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AAGGAAGTGCCGCGCCGCAGT	0.562													T	2675631	C	T	2675631	3	4	152	1	0	0	0	0	1	0	0	0	2566	652	23	1	1706	1	CACNA1C	12	2675631	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		2675631	131176264	72	10332											
CREBL2	1389	broad.mit.edu	37	chr12	12765120	12765120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgcgatggatgacagtaAggtaagtcttgtggtttgca	9	12	14	6	2	1	1	0	1	1	0	1	3	1	2	1	3	2	4	1	3	2	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:12765120A>C	uc001rap.1	+	1	291	c.15_splice	c.e1+1	p.K5_splice		NM_001310	NP_001301	O60519	CRBL2_HUMAN	Homo sapiens cAMP responsive element binding protein-like 2 (CREBL2), mRNA.	5					cell cycle|signal transduction	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Prostate(47;0.0684)		BRCA - Breast invasive adenocarcinoma(232;0.0503)		GATGACAGTAAGGTAAGTCTT	0.677													C	12765120	A	C	12765120	3	2	152	1	0	0	0	0	1	0	0	0	3893	86	3	5	16	5	CREBL2	12	12765120	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	10089489	12765120	121086775	73	10333											
CNTN1	1272	broad.mit.edu	37	chr12	41410534	41410534	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttggttacatagtggcAtttaagccatttgatggaga	12	15	10	4	0	0	2	0	1	0	1	0	3	0	2	1	3	2	2	1	3	4	7			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:41410534A>T	uc001rmm.1	+	18	2348	c.2235A>T	c.(2233-2235)gcA>gcT	p.A745A	CNTN1_uc001rmn.1_Silent_p.A734A	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	745	Fibronectin type-III 2.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				ACATAGTGGCATTTAAGCCAT	0.368													T	41410534	A	T	41410534	2	4	152	1	0	0	0	0	0	0	0	1	3671	204	8	5		5	CNTN1	12	41410534	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	28645414	41410534	92441361	74	10334											
SRGAP1	57522	broad.mit.edu	37	chr12	64491111	64491111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccgtgggctggaaaaccCcctctttcctaaggaaagat	10	11	9	11	1	1	1	0	0	1	1	3	3	3	3	4	3	1	1	4	3	4	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:64491111C>T	uc010ssp.1	+	14	1825	c.1769C>T	c.(1768-1770)cCc>cTc	p.P590L	SRGAP1_uc001srv.2_Missense_Mutation_p.P527L	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	590	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTGGAAAACCCCCTCTTTCCT	0.378													T	64491111	C	T	64491111	3	4	152	1	0	0	0	0	1	0	0	0	15241	623	22	2	1827	2	SRGAP1	12	64491111	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	23080577	64491111	69360784	75	10335											
PTPRB	5787	broad.mit.edu	37	chr12	70949684	70949684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgctgtcttcaaccacCtcgctggtcatgccggccga	7	10	10	14	3	3	0	2	0	1	0	4	1	3	0	4	2	3	2	4	2	2	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr12:70949684C>T	uc001swb.4	-	16	4335	c.4305G>A	c.(4303-4305)gaG>gaA	p.E1435E	PTPRB_uc010sto.2_Silent_p.E1345E|PTPRB_uc010stp.2_Silent_p.E1345E|PTPRB_uc001swc.4_Silent_p.E1653E|PTPRB_uc001swa.4_Silent_p.E1565E	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1435	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTCAACCACCTCGCTGGTCA	0.527													T	70949684	C	T	70949684	2	4	152	1	0	0	0	0	0	0	0	1	12884	680	24	2		2	PTPRB	12	70949684	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	6458573	70949684	62902211	76	10336											
PABPC3	5042	broad.mit.edu	37	chr13	25671682	25671682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataagcccagtgctatccGcccaggtgctcctagagtac	11	8	9	13	1	0	1	0	0	0	1	2	1	2	1	4	1	4	3	4	1	5	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:25671682G>A	uc001upy.3	+	0	1407	c.1346G>A	c.(1345-1347)cGc>cAc	p.R449H		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	449					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AGTGCTATCCGCCCAGGTGCT	0.502													A	25671682	G	A	25671682	3	1	152	1	0	0	0	0	1	0	0	0	11441	1087	38	1	1348	1	PABPC3	13	25671682	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		25671682	89498196	77	10337											
ATP8A2	51761	broad.mit.edu	37	chr13	26273468	26273468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcactctcgtgcaaagCggtcatatgctgcaggtagg	8	11	13	9	2	2	0	1	0	1	0	3	0	2	0	0	4	4	5	0	4	3	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:26273468C>T	uc001uqk.3	+	24	2511	c.2369C>T	c.(2368-2370)gCg>gTg	p.A790V	ATP8A2_uc010tdi.2_Missense_Mutation_p.A750V|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Missense_Mutation_p.A340V	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	750					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TCGTGCAAAGCGGTCATATGC	0.522													T	26273468	C	T	26273468	3	4	152	1	0	0	0	0	1	0	0	0	1198	768	27	1	2467	1	ATP8A2	13	26273468	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	601786	26273468	88896410	78	10338											
RNASEH2B	79621	broad.mit.edu	37	chr13	51530575	51530575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtattgataccttttttGgggtaaaaaataaaaaaaaa	21	12	6	2	0	0	1	0	1	0	0	0	1	0	1	1	2	1	2	1	2	11	8			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:51530575G>C	uc001vfa.4	+	10	1303	c.904G>C	c.(904-906)Ggg>Cgg	p.G302R	RNASEH2B_uc001vfb.4_Intron	NM_024570	NP_078846	Q5TBB1	RNH2B_HUMAN	Homo sapiens ribonuclease H2, subunit B (RNASEH2B), transcript variant 1, mRNA.	302					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		TACCTTTTTTGGGGTAAAAAA	0.299													C	51530575	G	C	51530575	3	2	152	1	0	0	0	0	1	0	0	0	13504	1348	47	4	946	4	RNASEH2B	13	51530575	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	25257107	51530575	63639303	79	10339											
PCDH20	64881	broad.mit.edu	37	chr13	61985658	61985658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaatctctggttctttTcttaaaagactctcaatgta	12	18	4	7	0	4	1	1	0	4	1	6	1	4	1	0	1	0	2	0	1	6	7			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:61985658T>C	uc001vid.4	-	1	2938	c.2574A>G	c.(2572-2574)agA>agG	p.R858R	PCDH20_uc010thj.2_Silent_p.R858R	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	831					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.S858C(1)		breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CTGGTTCTTTTCTTAAAAGAC	0.408													C	61985658	T	C	61985658	2	2	152	1	0	0	0	0	0	0	0	1	11591	1780	62	3		3	PCDH20	13	61985658	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	10455083	61985658	53184220	80	10340											
MYO16	23026	broad.mit.edu	37	chr13	109859100	109859100	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgcctcccccaccaccTtgcaagaagcccagccttct	8	7	8	18	0	1	1	0	0	1	1	2	1	2	1	7	1	4	1	7	1	2	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr13:109859100T>C	uc010agk.2	+	34	6181	c.5559T>C	c.(5557-5559)ccT>ccC	p.P1853P	MYO16_uc001vqt.1_Silent_p.P1831P	NM_001198950	NP_001185879	Q9Y6X6	MYO16_HUMAN	Homo sapiens myosin XVI (MYO16), transcript variant 1, mRNA.	1831					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCCCACCACCTTGCAAGAAGC	0.597													C	109859100	T	C	109859100	2	2	152	1	0	0	0	0	0	0	0	1	10140	1596	56	3		3	MYO16	13	109859100	Silent	SNP	T	TCGA-19-1390-01A-01D-1495-08	47873442	109859100	5310778	81	10341											
FKBP3	2287	broad.mit.edu	37	chr14	45587256	45587256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggctgtcctttctttcCgtaagcccattctggttcaa	7	15	7	12	1	4	0	2	0	2	0	6	0	6	0	3	2	1	3	3	2	2	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr14:45587256C>T	uc010tqf.2	-	5	945	c.595G>A	c.(595-597)Gga>Aga	p.G199R		NM_002013	NP_002004	Q00688	FKBP3_HUMAN	Homo sapiens FK506 binding protein 3, 25kDa (FKBP3), mRNA.	199	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CCTTTCTTTCCGTAAGCCCAT	0.378													T	45587256	C	T	45587256	3	4	152	1	0	0	0	0	1	0	0	0	5958	661	23	1	87	1	FKBP3	14	45587256	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		45587256	61762284	82	10342											
SPINT1	6692	broad.mit.edu	37	chr15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctctggggctcaggCgactttcccccagggtgagt	6	8	15	12	1	2	1	1	1	1	0	3	2	3	1	2	5	1	3	2	5	0	1	rs145193299		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													T	41146113	C	T	41146113	3	4	152	1	0	0	0	0	1	0	0	0	15164	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		41146113	61385279	83	10343											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364081	42364081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccccgtacttcaggaaaccGacctcatagggggagaactc	11	6	11	13	2	2	1	2	0	0	1	3	4	2	2	4	3	3	1	4	3	4	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:42364081G>A	uc001zox.3	-	14	1559	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	488	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		TCAGGAAACCGACCTCATAGG	0.607													A	42364081	G	A	42364081	2	1	152	1	0	0	0	0	0	0	0	1	12081	1045	37	1		1	PLA2G4D	15	42364081	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	1217968	42364081	60167311	84	10344											
ATP8B4	79895	broad.mit.edu	37	chr15	50211036	50211036	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccattttcaagttacCttgtttgtctcctgttagga	9	17	6	9	0	2	0	1	0	1	0	4	1	3	1	3	1	2	3	3	1	4	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:50211036C>A	uc001zxu.3	-	19	2177	c.2035_splice	c.e19+1	p.E679_splice	ATP8B4_uc010ber.3_Splice_Site_p.E552_splice|ATP8B4_uc010ufd.2_Splice_Site_p.E489_splice|ATP8B4_uc010ufe.2_Splice_Site	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	679					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTCAAGTTACCTTGTTTGTCT	0.318													A	50211036	C	A	50211036	4	1	152	1	0	0	0	0	0	1	0	0	1202	695	24	4	1583	4	ATP8B4	15	50211036	Nonsense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	7846955	50211036	52320356	85	10345											
ADAM10	102	broad.mit.edu	37	chr15	58925426	58925426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttatgtccaacttcgtgaGcaaaagtaatgtgagagact	14	11	10	6	1	0	3	0	2	0	1	2	4	1	3	1	0	2	3	1	0	5	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:58925426G>A	uc002afd.1	-	8	1589	c.1145C>T	c.(1144-1146)gCt>gTt	p.A382V	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.A81V|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	382	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AACTTCGTGAGCAAAAGTAAT	0.328													A	58925426	G	A	58925426	3	1	152	1	0	0	0	0	1	0	0	0	234	971	34	2	1133	2	ADAM10	15	58925426	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	8714390	58925426	43605966	86	10346											
TMEM202	338949	broad.mit.edu	37	chr15	72700088	72700088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctgtgatgaaaacGtcactgtgattccaacagag	11	9	10	11	2	1	4	1	3	0	1	2	4	2	4	3	0	3	0	3	0	3	1	rs143076809		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:72700088G>A	uc002auq.3	+	4	676	c.676G>A	c.(676-678)Gtc>Atc	p.V226I	TMEM202_uc002aur.3_Non-coding_Transcript	NM_001080462	NP_001073931	A6NGA9	TM202_HUMAN	Homo sapiens transmembrane protein 202 (TMEM202), mRNA.	226						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	18						TGATGAAAACGTCACTGTGAT	0.478													A	72700088	G	A	72700088	3	1	152	1	0	0	0	0	1	0	0	0	16227	1145	40	1	694	1	TMEM202	15	72700088	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	13774662	72700088	29831304	87	10347											
SCAMP5	192683	broad.mit.edu	37	chr15	75305137	75305137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaagcgcctctactacCtctggatgtgtgagtgccat	8	11	10	12	1	2	2	0	2	2	0	2	3	2	3	4	1	4	0	4	1	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr15:75305137C>T	uc002azn.2	+	2	314	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	SCAMP5_uc002azl.2_Missense_Mutation_p.L43F|SCAMP5_uc002azm.2_Missense_Mutation_p.L43F|SCAMP5_uc002azk.2_Missense_Mutation_p.L43F|SCAMP5_uc010uly.2_Missense_Mutation_p.P24L	NM_138967	NP_620417	Q8TAC9	SCAM5_HUMAN	Homo sapiens secretory carrier membrane protein 5 (SCAMP5), transcript variant 3, mRNA.	43					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						CCTCTACTACCTCTGGATGTG	0.607													T	75305137	C	T	75305137	3	4	152	1	0	0	0	0	1	0	0	0	13966	681	24	2	133	2	SCAMP5	15	75305137	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2605049	75305137	27226255	88	10348											
CORO1A	11151	broad.mit.edu	37	chr16	30198720	30198720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaaggaccgtccccaCgaggggacccggcccgtgcg	8	2	16	15	5	0	1	0	0	0	1	1	5	1	3	5	5	1	0	5	5	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:30198720C>T	uc010bzq.3	+	6	1089	c.654C>T	c.(652-654)caC>caT	p.H218H	BOLA2_uc010bzb.1_Intron|CORO1A_uc002dww.3_Silent_p.H218H|CORO1A_uc002dwx.3_Silent_p.H112H|CORO1A_uc002dwy.1_Silent_p.H62H|CORO1A_uc002dwz.1_5'Flank	NM_001193333	NP_009005	P31146	COR1A_HUMAN	Homo sapiens coronin, actin binding protein, 1A (CORO1A), transcript variant 1, mRNA.	218					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						ACCGTCCCCACGAGGGGACCC	0.667													T	30198720	C	T	30198720	2	4	152	1	0	0	0	0	0	0	0	1	3784	535	19	1		1	CORO1A	16	30198720	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08		30198720	60156033	89	10349											
ARMC5	79798	broad.mit.edu	37	chr16	31471307	31471307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcgcagactcggaggCatactccctttgggtaagtg	9	9	14	9	2	0	1	0	0	0	1	2	3	1	2	1	3	2	3	1	3	3	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr16:31471307C>T	uc010vfn.2	+	2	871	c.747C>T	c.(745-747)ggC>ggT	p.G249G	ARMC5_uc010vfo.2_Silent_p.G186G|ARMC5_uc002ecc.3_Silent_p.G154G|ARMC5_uc002eca.4_Silent_p.G154G|ARMC5_uc002ecb.2_Silent_p.G154G|ARMC5_uc010vfp.2_Silent_p.G154G	NM_001105247	NP_001098717	Q96C12	ARMC5_HUMAN	Homo sapiens armadillo repeat containing 5 (ARMC5), transcript variant 1, mRNA.	154							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						GACTCGGAGGCATACTCCCTT	0.597													T	31471307	C	T	31471307	2	4	152	1	0	0	0	0	0	0	0	1	959	697	25	2		2	ARMC5	16	31471307	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	1272587	31471307	58883446	90	10350											
TP53	7157	broad.mit.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	11	9	12	9	1	0	3	0	1	0	2	3	5	2	5	3	4	1	1	3	4	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578268A>C	uc002gim.2	-	5	775	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_uc002gig.1_Missense_Mutation_p.L194R|TP53_uc002gih.3_Missense_Mutation_p.L194R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.L62R|TP53_uc010cnf.1_Missense_Mutation_p.L62R|TP53_uc002gii.1_Missense_Mutation_p.L62R|TP53_uc010cni.1_Missense_Mutation_p.L194R|TP53_uc010cnh.1_Missense_Mutation_p.L194R|TP53_uc002gij.2_Missense_Mutation_p.L194R|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.L101R|TP53_uc002gio.2_Missense_Mutation_p.L62R|TP53_uc010vug.2_Missense_Mutation_p.L155R	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(84)|p.H193R(72)|p.H193L(35)|p.H193Y(27)|p.L194F(18)|p.L194P(16)|p.L194H(14)|p.H193P(14)|p.H193D(9)|p.0?(8)|p.A189_V197delAPPQHLIRV(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.L194L(4)|p.H193N(4)|p.P191_E198>Q(4)|p.H193fs*16(3)|p.L194fs*15(3)|p.H193_I195delHLI(2)|p.P191fs*53(2)|p.L194fs*14(2)|p.L194fs*52(2)|p.H193H(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.L101H(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.L194I(1)|p.I195fs*52(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)		CACTCGGATAAGATGCTGAGG	0.552		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)			C	7578268	A	C	7578268	3	2	152	1	0	0	0	0	1	0	0	0	16482	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08		7578268	73616942	91	10351											
TP53	7157	broad.mit.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	11	10	15	5	0	1	1	0	1	1	0	1	3	1	3	0	5	2	5	0	5	4	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:7578542G>A	uc002gim.2	-	4	582	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	TP53_uc002gig.1_Missense_Mutation_p.L130F|TP53_uc002gih.3_Missense_Mutation_p.L130F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.L130F|TP53_uc010cnh.1_Missense_Mutation_p.L130F|TP53_uc002gij.2_Missense_Mutation_p.L130F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.L37F|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.L91F	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130F(26)|p.L130V(22)|p.Y126_K132delYSPALNK(12)|p.0?(8)|p.L130R(7)|p.Y126_N131delYSPALN(6)|p.L130L(4)|p.L130H(4)|p.L130fs*19(4)|p.L37F(3)|p.L130fs*41(3)|p.S127_Q136del10(2)|p.A129_L130insXX(2)|p.A129_N131delALN(2)|p.L130fs*39(2)|p.L130fs*16(2)|p.A129_K132delALNK(2)|p.L130_M133delLNKM(2)|p.A129V(2)|p.A129T(2)|p.L130del(2)|p.L130fs*40(2)|p.Y126fs*11(1)|p.L130P(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.A129del(1)|p.N131fs*27(1)|p.A129G(1)|p.A129D(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.A129fs*20(1)|p.A129fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	0.552		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)			A	7578542	G	A	7578542	3	1	152	1	0	0	0	0	1	0	0	0	16482	1000	35	2	910	2	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	274	7578542	73616668	92	10352											
RCVRN	5957	broad.mit.edu	37	chr17	9808118	9808118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagaggggagactgaccAtgacgatctccagcacttca	11	6	14	10	1	2	4	1	2	1	2	3	7	2	4	2	4	1	1	2	4	0	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:9808118A>G	uc002gme.1	-	1	568	c.381_splice	c.e1+1	p.M127_splice		NM_002903	NP_002894	P35243	RECO_HUMAN	Homo sapiens recoverin (RCVRN), mRNA.	127	EF-hand 3.				visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GAGACTGACCATGACGATCTC	0.642													G	9808118	A	G	9808118	3	3	152	1	0	0	0	0	1	0	0	0	13274	231	8	3	234	3	RCVRN	17	9808118	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	2229576	9808118	71387092	93	10353											
MYH4	4622	broad.mit.edu	37	chr17	10358321	10358321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcatatggcttgagtgCgcgtgatgagttgagctagc	7	12	14	8	2	1	4	0	4	1	0	1	4	1	4	0	1	4	4	0	1	2	4	rs144778193	by1000genomes	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10358321C>T	uc002gmn.3	-	20	2483	c.2372G>A	c.(2371-2373)cGc>cAc	p.R791H	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	791	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R791H(2)|p.T790M(2)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGCTTGAGTGCGCGTGATGAG	0.463													T	10358321	C	T	10358321	3	4	152	1	0	0	0	0	1	0	0	0	10113	768	27	1	3527	1	MYH4	17	10358321	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	550203	10358321	70836889	94	10354											
MYH1	4619	broad.mit.edu	37	chr17	10419368	10419368	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcaaccacttgtaggggTtgacagtgacacagaacaag	13	7	12	9	0	0	3	0	2	0	1	0	3	0	3	1	3	2	3	1	3	4	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:10419368T>A	uc002gmo.3	-	4	474	c.380A>T	c.(379-381)aAc>aTc	p.N127I	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	127	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.V126I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTGTAGGGGTTGACAGTGAC	0.488													A	10419368	T	A	10419368	3	1	152	1	0	0	0	0	1	0	0	0	10105	1725	60	5	5583	5	MYH1	17	10419368	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	61047	10419368	70775842	95	10355											
ERBB2	2064	broad.mit.edu	37	chr17	37866667	37866667	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacctacaacacagacacGtttgagtccatgcccaatcc	12	8	6	15	1	1	2	1	1	0	1	3	2	3	2	4	0	3	1	4	0	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:37866667G>A	uc002hso.3	+	6	1072	c.834G>A	c.(832-834)acG>acA	p.T278T	ERBB2_uc010cwa.3_Silent_p.T263T|ERBB2_uc002hsm.3_Silent_p.T248T|ERBB2_uc002hsp.3_Silent_p.T81T|ERBB2_uc010cwb.3_Silent_p.T278T|ERBB2_uc010wek.2_Intron|ERBB2_uc002hsl.3_Silent_p.T248T|ERBB2_uc002hsn.1_Silent_p.T278T	NM_004448	NP_001005862	P04626	ERBB2_HUMAN	Homo sapiens v-erb-b2 erythroblastic leukemia viral oncogene homolog 2, neuro/glioblastoma derived oncogene homolog (avian) (ERBB2), transcript variant 1, mRNA.	278					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	ACACAGACACGTTTGAGTCCA	0.582		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			A	37866667	G	A	37866667	2	1	152	1	0	0	0	0	0	0	0	1	5247	1132	40	1		1	ERBB2	17	37866667	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	27447299	37866667	43328543	96	10356											
DNAH17	8632	broad.mit.edu	37	chr17	76457727	76457727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctggatcagttggtctgCgctctcattcttctgcttga	5	15	9	12	1	5	1	2	1	4	0	6	2	5	2	1	2	2	3	1	2	0	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr17:76457727C>T	uc010dhp.2	-	57	9363	c.9238G>A	c.(9238-9240)Gca>Aca	p.A3080T	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTTGGTCTGCGCTCTCATTC	0.527													T	76457727	C	T	76457727	3	4	152	1	0	0	0	0	1	0	0	0	4640	768	27	1	4246	1	DNAH17	17	76457727	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	38591060	76457727	4737483	97	10357											
DSG3	1830	broad.mit.edu	37	chr18	29046572	29046572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgtccaacagctgtcctCgaaaaagatgcagtttgcag	13	10	9	9	1	0	1	0	0	0	1	3	2	2	1	2	0	4	4	2	0	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29046572C>T	uc002kws.3	+	10	1600	c.1491C>T	c.(1489-1491)ctC>ctT	p.L497L		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	497	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCTGTCCTCGAAAAAGATG	0.418													T	29046572	C	T	29046572	2	4	152	1	0	0	0	0	0	0	0	1	4817	871	31	1		1	DSG3	18	29046572	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08		29046572	49030676	98	10358											
DSG3	1830	broad.mit.edu	37	chr18	29055684	29055684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatctatgataatgaaggcGcagatgccactggttctcct	10	12	10	9	1	2	4	0	3	2	1	3	4	2	4	2	2	1	2	2	2	3	3	rs148716637		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:29055684G>A	uc002kws.3	+	15	2570	c.2461G>A	c.(2461-2463)Gca>Aca	p.A821T	DSG3_uc002kwt.3_Missense_Mutation_p.A103T	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	821					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TAATGAAGGCGCAGATGCCAC	0.468													A	29055684	G	A	29055684	3	1	152	1	0	0	0	0	1	0	0	0	4817	1087	38	1	2523	1	DSG3	18	29055684	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	9112	29055684	49021564	99	10359											
SERPINB12	89777	broad.mit.edu	37	chr18	61232706	61232706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtgtgaagatgatgaCgcaaaaaggcctctacagaa	17	6	11	7	1	1	6	0	3	1	3	1	6	1	6	1	1	1	1	1	1	6	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr18:61232706C>T	uc010xeo.2	+	5	734	c.734C>T	c.(733-735)aCg>aTg	p.T245M	SERPINB12_uc010xen.2_Missense_Mutation_p.T225M	NM_080474	NP_536722	Q96P63	SPB12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 12 (SERPINB12), mRNA.	225					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity	p.T225M(1)		kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AAGATGATGACGCAAAAAGGC	0.488													T	61232706	C	T	61232706	3	4	152	1	0	0	0	0	1	0	0	0	14192	536	19	1	696	1	SERPINB12	18	61232706	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	32177022	61232706	16844542	100	10360											
VMAC	400673	broad.mit.edu	37	chr19	5909016	5909016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatgccctggctgaggctGagcgcctggggcccctgccg	3	7	17	14	2	0	2	0	2	0	0	0	3	0	3	5	5	3	2	5	5	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:5909016G>A	uc002mds.4	+	1	423	c.373G>A	c.(373-375)Gag>Aag	p.E125K		NM_001017921	NP_001017921	Q2NL98	VMAC_HUMAN	Homo sapiens vimentin-type intermediate filament associated coiled-coil protein (VMAC), mRNA.	125						cytoplasm				lung(1)	1						GGCTGAGGCTGAGCGCCTGGG	0.721													A	5909016	G	A	5909016	3	1	152	1	0	0	0	0	1	0	0	0	17278	1291	45	2	379	2	VMAC	19	5909016	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		5909016	53219967	101	10361											
MUC16	94025	broad.mit.edu	37	chr19	8966765	8966765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactctccgagccagtggCgagaagttacacagggagtc	10	8	12	11	2	2	1	0	0	2	1	4	4	2	2	2	2	3	1	2	2	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:8966765C>T	uc002mkp.3	-	80	43392	c.43188G>A	c.(43186-43188)tcG>tcA	p.S14396S	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.S1196S|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	14494				Missing (in Ref. 3; AAK74120).	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						GAGCCAGTGGCGAGAAGTTAC	0.527													T	8966765	C	T	8966765	2	4	152	1	0	0	0	0	0	0	0	1	10049	755	27	1		1	MUC16	19	8966765	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	3057749	8966765	50162218	102	10362											
MUC16	94025	broad.mit.edu	37	chr19	9057573	9057573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccaggagaacttttttggGtggtgatggtcatttgtgtt	6	16	13	6	0	1	2	1	1	0	1	1	3	1	2	2	4	1	1	2	4	1	5			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:9057573G>A	uc002mkp.3	-	2	30077	c.29873C>T	c.(29872-29874)aCc>aTc	p.T9958I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9960	Ser-rich.|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						ACTTTTTTGGGTGGTGATGGT	0.488													A	9057573	G	A	9057573	3	1	152	1	0	0	0	0	1	0	0	0	10049	1261	44	2	13978	2	MUC16	19	9057573	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	90808	9057573	50071410	103	10363											
ZNF443	10224	broad.mit.edu	37	chr19	12543219	12543219	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgggatatctatattGatcttcaatgttctggtctt	7	20	7	7	0	5	1	1	1	4	0	6	2	6	2	1	2	0	1	1	2	4	8			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:12543219G>T	uc002mtu.3	-	2	361	c.163C>A	c.(163-165)Caa>Aaa	p.Q55K		NM_005815	NP_005806	Q9Y2A4	ZN443_HUMAN	Homo sapiens zinc finger protein 443 (ZNF443), mRNA.	55	KRAB.				induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						TATCTATATTGATCTTCAATG	0.294													T	12543219	G	T	12543219	3	4	152	1	0	0	0	0	1	0	0	0	18017	1299	45	4	1860	4	ZNF443	19	12543219	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3485646	12543219	46585764	104	10364											
OR7A17	26333	broad.mit.edu	37	chr19	14991689	14991689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccacaataccattaagCtttgtgacaaggaattcagg	15	9	8	9	0	1	1	1	1	0	0	1	2	1	2	2	2	3	1	2	2	5	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:14991689C>A	uc010xob.2	-	0	479	c.479G>T	c.(478-480)aGc>aTc	p.S160I		NM_030901	NP_112163	O14581	OR7AH_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 17 (OR7A17), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TACCATTAAGCTTTGTGACAA	0.483													A	14991689	C	A	14991689	3	1	152	1	0	0	0	0	1	0	0	0	11291	797	28	4	452	4	OR7A17	19	14991689	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2448470	14991689	44137294	105	10365											
ZNF208	7757	broad.mit.edu	37	chr19	22155210	22155210	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttcttatgataactaaGggttgagggccatttatagg	12	15	10	4	0	1	2	0	2	1	0	1	2	1	2	1	3	1	1	1	3	6	9			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:22155210G>T	uc021urr.1	-	3	2775	c.2626C>A	c.(2626-2628)Ctt>Att	p.L876I	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.									p.L776I(2)|p.L876I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGATAACTAAGGGTTGAGGGC	0.363													T	22155210	G	T	22155210	3	4	152	1	0	0	0	0	1	0	0	0	17867	1000	35	4	1220	4	ZNF208	19	22155210	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	7163521	22155210	36973773	106	10366											
MAG	4099	broad.mit.edu	37	chr19	35801000	35801000	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccaggccccgccccgCgtcatctgcaccgcgaggaa	7	3	12	19	5	2	0	1	0	1	0	2	2	2	1	6	3	1	1	6	3	1	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:35801000C>T	uc002nyy.2	+	7	1653	c.1455C>T	c.(1453-1455)cgC>cgT	p.R485R	MAG_uc002nyx.2_Silent_p.R485R|MAG_uc010eds.2_Silent_p.R460R|MAG_uc002nyz.2_Silent_p.R485R	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	485	Ig-like C2-type 4.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCCCGCCCCGCGTCATCTGCA	0.697													T	35801000	C	T	35801000	2	4	152	1	0	0	0	0	0	0	0	1	9233	755	27	1		1	MAG	19	35801000	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	13645790	35801000	23327983	107	10367											
CGB8	94027	broad.mit.edu	37	chr19	49557640	49557640	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggaagaggaggcctGgaagcgggggtcatcacagg	10	6	18	7	1	2	2	2	1	0	1	2	5	2	5	1	7	1	0	1	7	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:49557640G>A	uc002pmd.3	-	2	1626	c.406C>T	c.(406-408)Cag>Tag	p.Q136*	CGB8_uc002pmc.3_Intron|CGB8_uc002pme.3_Nonsense_Mutation_p.Q136*	NM_033142	NP_149133	P01233	CGHB_HUMAN	Homo sapiens chorionic gonadotropin, beta polypeptide 7 (CGB7), mRNA.	136					apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GAGGAGGCCTGGAAGCGGGGG	0.647													A	49557640	G	A	49557640	4	1	152	1	0	0	0	0	0	1	0	0	3331	1357	47	2		2	CGB8	19	49557640	Nonsense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	13756640	49557640	9571343	108	10368											
ZNF28	7576	broad.mit.edu	37	chr19	53304049	53304049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtaaggtttctctccaGtgtgaattatagtatgtttt	9	19	8	5	0	1	1	0	1	1	0	3	1	2	1	1	1	0	4	1	1	5	8			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:53304049G>T	uc002qad.3	-	3	1206	c.1049C>A	c.(1048-1050)aCt>aAt	p.T350N	ZNF28_uc002qac.3_Missense_Mutation_p.T296N|ZNF28_uc010eqe.3_Missense_Mutation_p.T296N|ZNF28_uc021uza.1_Missense_Mutation_p.T297N	NM_006969	NP_008900	P17035	ZNF28_HUMAN	Homo sapiens zinc finger protein 28 (ZNF28), transcript variant 1, mRNA.	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		TTTCTCTCCAGTGTGAATTAT	0.373													T	53304049	G	T	53304049	3	4	152	1	0	0	0	0	1	0	0	0	17914	1029	36	4	1111	4	ZNF28	19	53304049	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	3746409	53304049	5824934	109	10369											
NLRP7	199713	broad.mit.edu	37	chr19	55451268	55451268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggagctggaggtcccTcagtgccctgggccgcgtgg	4	6	17	14	3	1	0	1	0	0	0	2	2	2	2	4	5	2	1	4	5	0	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:55451268T>C	uc002qih.4	-	3	995	c.919A>G	c.(919-921)Agg>Ggg	p.R307G	NLRP7_uc010esk.3_Missense_Mutation_p.R307G|NLRP7_uc002qig.4_Missense_Mutation_p.R307G|NLRP7_uc002qii.4_Missense_Mutation_p.R307G|NLRP7_uc010esl.3_Missense_Mutation_p.R335G	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	307	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TGGAGGTCCCTCAGTGCCCTG	0.617													C	55451268	T	C	55451268	3	2	152	1	0	0	0	0	1	0	0	0	10558	1550	54	3	2226	3	NLRP7	19	55451268	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	2147219	55451268	3677715	110	10370											
NLRP5	126206	broad.mit.edu	37	chr19	56549462	56549462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttacgacctcccccagccTgaaatctctgagcctggcag	8	8	8	17	1	1	2	0	2	1	0	3	3	2	2	6	1	3	1	6	1	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr19:56549462T>C	uc002qmj.3	+	9	2687	c.2687T>C	c.(2686-2688)cTg>cCg	p.L896P	NLRP5_uc002qmi.3_Missense_Mutation_p.L877P	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	896						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCCCAGCCTGAAATCTCTG	0.547													C	56549462	T	C	56549462	3	2	152	1	0	0	0	0	1	0	0	0	10556	1580	55	3	2725	3	NLRP5	19	56549462	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	1098194	56549462	2579521	111	10371											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232172	32232172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactgctggaactgtggccGcaaagccagcgagacatgca	12	5	13	11	2	0	1	0	0	0	1	0	4	0	2	2	2	6	3	2	2	3	0			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:32232172G>A	uc002wzg.1	+	11	2072	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	CBFA2T2_uc010zug.1_Missense_Mutation_p.R286H|CBFA2T2_uc002wze.1_Missense_Mutation_p.R503H|CBFA2T2_uc002wzf.1_Non-coding_Transcript|CBFA2T2_uc002wzh.1_Missense_Mutation_p.R483H|CBFA2T2_uc002wzi.1_Non-coding_Transcript|CBFA2T2_uc002wzj.1_Non-coding_Transcript|CBFA2T2_uc002wzk.1_Missense_Mutation_p.R60H	NM_005093	NP_001034798	O43439	MTG8R_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 2 (CBFA2T2), transcript variant 2, mRNA.	512						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						AACTGTGGCCGCAAAGCCAGC	0.572													A	32232172	G	A	32232172	3	1	152	1	0	0	0	0	1	0	0	0	2723	1087	38	1	1615	1	CBFA2T2	20	32232172	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08		32232172	30793348	112	10372											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	8	7	11	15	4	0	1	0	1	0	0	2	3	1	1	4	1	3	1	4	1	2	2	rs141167641	by1000genomes	TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													A	51870661	G	A	51870661	3	1	152	1	0	0	0	0	1	0	0	0	16725	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	19638489	51870661	11154859	113	10373											
GRIK1	2897	broad.mit.edu	37	chr21	30949385	30949385	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgggggattccattctctCtactgtcaagaaggcagcca	10	11	10	10	0	3	1	1	0	2	1	5	2	4	2	2	3	2	1	2	3	4	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chr21:30949385C>G	uc002yno.1	-	13	2493	c.2029G>C	c.(2029-2031)Gag>Cag	p.E677Q	GRIK1_uc002ynn.3_Missense_Mutation_p.E662Q|GRIK1_uc011acs.2_Missense_Mutation_p.E677Q|GRIK1_uc011act.2_Missense_Mutation_p.E538Q	NM_000830	NP_000821	P39086	GRIK1_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 1 (GRIK1), transcript variant 1, mRNA.	677					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	TCCATTCTCTCTACTGTCAAG	0.448													G	30949385	C	G	30949385	3	3	152	1	0	0	0	0	1	0	0	0	6828	922	32	4	903	4	GRIK1	21	30949385	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		30949385	17180510	114	10374											
ACE2	59272	broad.mit.edu	37	chrX	15582159	15582159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacttacttcttccgatctCtgatcccagtgaagatcagg	9	12	7	13	1	3	3	1	2	2	1	6	4	5	3	3	1	1	0	3	1	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:15582159C>T	uc004cxa.1	-	16	2465	c.2297G>A	c.(2296-2298)aGa>aAa	p.R766K	ACE2_uc004cxb.2_Missense_Mutation_p.R766K	NM_021804	NP_068576	Q9BYF1	ACE2_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 2 (ACE2), mRNA.	766					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CTTCCGATCTCTGATCCCAGT	0.413													T	15582159	C	T	15582159	3	4	152	1	0	0	0	0	1	0	0	0	137	913	32	2	128	2	ACE2	23	15582159	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08		15582159	139688401	115	10375											
RS1	6247	broad.mit.edu	37	chrX	18690198	18690198	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgtgacatcttcccctcGtcctcggccaaagctctacc	6	11	7	17	3	2	1	0	1	2	0	6	1	4	1	5	1	3	1	5	1	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:18690198G>A	uc004cyo.3	-	0						NM_000330	NP_000321	O15537	XLRS1_HUMAN	Homo sapiens retinoschisin 1 (RS1), mRNA.						cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					TCTTCCCCTCGTCCTCGGCCA	0.443													A	18690198	G	A	18690198	1	1	152	1	0	0	0	0	0	0	0	0	13784	1160	40	1		1	RS1	23	18690198	Translation_Start_Site	SNP	G	TCGA-19-1390-01A-01D-1495-08	3108039	18690198	136580362	116	10376											
KLHL34	257240	broad.mit.edu	37	chrX	21674007	21674007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctagcgcctctccaacctCtccctccctctcgtcgtccc	4	11	4	22	3	4	0	0	0	4	0	10	0	6	0	6	0	2	0	6	0	2	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:21674007C>T	uc004czz.1	-	0	2442	c.1900G>A	c.(1900-1902)Gag>Aag	p.E634K	JA611288_uc022btu.1_5'Flank	NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	634										cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TCTCCAACCTCTCCCTCCCTC	0.637													T	21674007	C	T	21674007	3	4	152	1	0	0	0	0	1	0	0	0	8445	922	32	2	38	2	KLHL34	23	21674007	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	2983809	21674007	133596553	117	10377											
BCOR	54880	broad.mit.edu	37	chrX	39932304	39932304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagtttccaaaatctcGgaaaaccgattccggagggt	11	10	10	10	3	1	0	0	0	1	0	4	3	3	2	3	3	2	2	3	3	5	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:39932304G>A	uc004den.4	-	3	2587	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_uc004dep.4_Silent_p.S765S|BCOR_uc004deo.4_Silent_p.S765S|BCOR_uc004dem.4_Silent_p.S765S|BCOR_uc004deq.4_Silent_p.S765S	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	765					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39932304	G	A	39932304	2	1	152	1	0	0	0	0	0	0	0	1	1391	1103	39	1		1	BCOR	23	39932304	Silent	SNP	G	TCGA-19-1390-01A-01D-1495-08	18258297	39932304	115338256	118	10378											
BMP15	9210	broad.mit.edu	37	chrX	50653945	50653945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagaagaatcccctggCgaacagccaaggaagccccg	12	4	11	14	2	0	2	0	0	0	2	1	4	1	3	5	2	4	1	5	2	6	1	rs149633402		TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:50653945C>T	uc011mnw.2	+	0	211	c.162C>T	c.(160-162)ggC>ggT	p.G54G		NM_005448	NP_005439	O95972	BMP15_HUMAN	Homo sapiens bone morphogenetic protein 15 (BMP15), mRNA.	54					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					AATCCCCTGGCGAACAGCCAA	0.592													T	50653945	C	T	50653945	2	4	152	1	0	0	0	0	0	0	0	1	1464	755	27	1		1	BMP15	23	50653945	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	10721641	50653945	104616615	119	10379											
KDM5C	8242	broad.mit.edu	37	chrX	53230914	53230914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgctcaatgcactggcGcccagcaggcaactgtgggc	8	7	14	12	1	1	0	1	0	0	0	1	0	1	0	1	3	4	5	1	3	3	1			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:53230914G>A	uc004drz.3	-	13	2412	c.1879C>T	c.(1879-1881)Cgc>Tgc	p.R627C	KDM5C_uc022bxe.1_Missense_Mutation_p.R560C|KDM5C_uc004dsa.3_Missense_Mutation_p.R626C	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	627	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATGCACTGGCGCCCAGCAGGC	0.587			"N, F, S"		clear cell renal carcinoma								A	53230914	G	A	53230914	3	1	152	1	0	0	0	0	1	0	0	0	8193	1087	38	1	2953	1	KDM5C	23	53230914	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	2576969	53230914	102039646	120	10380											
FAM123B	139285	broad.mit.edu	37	chrX	63412206	63412206	+	Frame_Shift_Del	DEL	T	T	-																															acctgtcaatgaatcaaagcTtttcagggatgtcacatccc																										TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:63412206delT	uc022byb.1	-	0	961	c.961delA	c.(961-963)agcfs	p.S321fs	FAM123B_uc004dvo.3_Frame_Shift_Del_p.S321fs	NM_152424	NP_689637	Q5JTC6	F123B_HUMAN	Homo sapiens family with sequence similarity 123B (FAM123B), mRNA.	321					Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane		p.0?(67)		NS(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(132)|large_intestine(35)|liver(1)|lung(33)|ovary(5)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	225						GAATCAAAGCTTTTCAGGGAT	0.522													-	63412206	T	-	63412206	7	5	152	1	0	1	0	1	0	0	0	0	5468	1609	56	0	2450	0	FAM123B	23	63412206	Frame_Shift_Del	DEL	T	TCGA-19-1390-01A-01D-1495-08	10181292	63412206	91858354	121	10381											
YIPF6	286451	broad.mit.edu	37	chrX	67731798	67731798	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacagctccacattaaaTgaatctgttcgcaataccat	13	13	5	10	1	1	2	0	2	1	0	3	2	2	2	2	0	2	3	2	0	5	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:67731798T>A	uc004dwz.3	+	1	450	c.165T>A	c.(163-165)aaT>aaA	p.N55K	YIPF6_uc011mph.2_Intron	NM_173834	NP_776195	Q96EC8	YIPF6_HUMAN	Homo sapiens Yip1 domain family, member 6 (YIPF6), transcript variant A, mRNA.	55						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCACATTAAATGAATCTGTTC	0.393													A	67731798	T	A	67731798	3	1	152	1	0	0	0	0	1	0	0	0	17584	1461	51	5	171	5	YIPF6	23	67731798	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	4319592	67731798	87538762	122	10382											
PCDH11X	27328	broad.mit.edu	37	chrX	91133162	91133162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaagaatcttacactttCtatgtaaaggctgaggatgg	15	11	9	6	0	2	2	0	1	2	1	2	3	2	3	0	3	2	2	0	3	7	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:91133162C>A	uc004efk.2	+	1	2768	c.1923C>A	c.(1921-1923)ttC>ttA	p.F641L	PCDH11X_uc004efl.2_Missense_Mutation_p.F641L|PCDH11X_uc010nmv.2_Missense_Mutation_p.F641L|PCDH11X_uc004efm.2_Missense_Mutation_p.F641L|PCDH11X_uc004efn.2_Missense_Mutation_p.F641L|PCDH11X_uc004efo.2_Missense_Mutation_p.F641L|PCDH11X_uc004efh.2_Missense_Mutation_p.F641L|PCDH11X_uc004efj.1_Missense_Mutation_p.F641L	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	641	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CTTACACTTTCTATGTAAAGG	0.363													A	91133162	C	A	91133162	3	1	152	1	0	0	0	0	1	0	0	0	11584	912	32	4	1929	4	PCDH11X	23	91133162	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	23401364	91133162	64137398	123	10383											
OCRL	4952	broad.mit.edu	37	chrX	128721074	128721074	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcttctagtagatcacctAttcaaatacgcctgtcacca	11	12	6	12	1	4	1	3	0	1	1	4	1	4	1	3	1	1	2	3	1	5	6			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:128721074A>G	uc004euq.3	+	19	2400	c.2235A>G	c.(2233-2235)ctA>ctG	p.L745L	OCRL_uc004eur.3_Silent_p.L737L|OCRL_uc010nrb.3_5'Flank	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	745	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TAGATCACCTATTCAAATACG	0.458													G	128721074	A	G	128721074	2	3	152	1	0	0	0	0	0	0	0	1	10899	436	16	3		3	OCRL	23	128721074	Silent	SNP	A	TCGA-19-1390-01A-01D-1495-08	37587912	128721074	26549486	124	10384											
HTATSF1	27336	broad.mit.edu	37	chrX	135593609	135593609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagaatttgaagaaaatGgtctcgagaaagatttggac	18	9	11	3	1	1	5	0	1	1	4	2	8	1	6	0	2	0	0	0	2	6	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:135593609G>T	uc004ezw.3	+	9	2127	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	HTATSF1_uc004ezx.3_Missense_Mutation_p.G569C	NM_001163280	NP_055315	O43719	HTSF1_HUMAN	Homo sapiens HIV-1 Tat specific factor 1 (HTATSF1), transcript variant 1, mRNA.	569	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TGAAGAAAATGGTCTCGAGAA	0.393													T	135593609	G	T	135593609	3	4	152	1	0	0	0	0	1	0	0	0	7491	1348	47	4	1739	4	HTATSF1	23	135593609	Missense_Mutation	SNP	G	TCGA-19-1390-01A-01D-1495-08	6872535	135593609	19676951	125	10385											
SOX3	6658	broad.mit.edu	37	chrX	139586804	139586804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaaggcgttcatgggcCgtttcacacggtcctggtct	6	11	12	12	3	3	1	2	1	1	0	4	1	4	1	3	4	0	2	3	4	1	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:139586804C>T	uc004fbd.1	-	0	422	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	141					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R141R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GTTCATGGGCCGTTTCACACG	0.652													T	139586804	C	T	139586804	3	4	152	1	0	0	0	0	1	0	0	0	15045	652	23	1	922	1	SOX3	23	139586804	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	3993195	139586804	15683756	126	10386											
MTM1	4534	broad.mit.edu	37	chrX	149839946	149839946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatggagctcttagccttaCgcgacgaatacataaagcgg	13	8	10	10	4	1	0	0	0	1	0	1	3	1	1	1	2	5	1	1	2	6	4			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:149839946C>T	uc004fef.4	+	14	1766	c.1690C>T	c.(1690-1692)Cgc>Tgc	p.R564C	MTM1_uc011mxx.2_Non-coding_Transcript|MTM1_uc011mxy.2_Missense_Mutation_p.R527C|MTM1_uc011mxz.2_Missense_Mutation_p.R449C|MTM1_uc010nte.3_Missense_Mutation_p.R432C	NM_000252	NP_000243	Q13496	MTM1_HUMAN	Homo sapiens myotubularin 1 (MTM1), mRNA.	564					endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					CTTAGCCTTACGCGACGAATA	0.517													T	149839946	C	T	149839946	3	4	152	1	0	0	0	0	1	0	0	0	10013	536	19	1	1744	1	MTM1	23	149839946	Missense_Mutation	SNP	C	TCGA-19-1390-01A-01D-1495-08	10253142	149839946	5430614	127	10387											
GABRE	2564	broad.mit.edu	37	chrX	151128446	151128446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctcattctcaggataggAaactggaaaggaatgtgaga	15	9	11	6	0	2	1	2	1	2	1	4	6	2	5	0	4	1	0	0	4	4	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:151128446A>G	uc004ffi.3	-	5	703	c.649T>C	c.(649-651)Tcc>Ccc	p.S217P	GABRE_uc011myd.2_Non-coding_Transcript|GABRE_uc011mye.1_Non-coding_Transcript|MIR452_uc022cgx.1_5'Flank	NM_004961	NP_004952	P78334	GBRE_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, epsilon (GABRE), mRNA.	217					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGGATAGGAAACTGGAAAG	0.438													G	151128446	A	G	151128446	3	3	152	1	0	0	0	0	1	0	0	0	6222	246	9	3	887	3	GABRE	23	151128446	Missense_Mutation	SNP	A	TCGA-19-1390-01A-01D-1495-08	1288500	151128446	4142114	128	10388											
PLXNB3	5365	broad.mit.edu	37	chrX	153033712	153033712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccacgtaggattccccCgagtcgtacccctgtggcga	6	8	11	16	4	0	0	0	0	0	0	2	3	1	1	6	2	2	2	6	2	2	3			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:153033712C>T	uc010nuk.2	+	4	1435	c.1164C>T	c.(1162-1164)ccC>ccT	p.P388P	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Silent_p.P47P|PLXNB3_uc004fii.2_Silent_p.P365P|PLXNB3_uc011mzd.1_Silent_p.P4P	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	365	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					AGGATTCCCCCGAGTCGTACC	0.687													T	153033712	C	T	153033712	2	4	152	1	0	0	0	0	0	0	0	1	12202	639	23	1		1	PLXNB3	23	153033712	Silent	SNP	C	TCGA-19-1390-01A-01D-1495-08	1905266	153033712	2236848	129	10389											
MPP1	4354	broad.mit.edu	37	chrX	154009984	154009984	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccaaactccaagaacTcattggcagagatgttcctc	12	9	8	12	0	1	2	1	0	0	2	4	3	3	2	3	1	4	3	3	1	3	2			TCGA-19-1390-01A-01D-1495-08	TCGA-19-1390-10C-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d7e8e408-0a8f-4177-ad38-08c5da484ed0	59e90d1d-d052-4486-ba3a-85698c0ca427	g.chrX:154009984T>A	uc004fmp.2	-	9	1194	c.1040A>T	c.(1039-1041)gAg>gTg	p.E347V	MPP1_uc011mzv.2_Missense_Mutation_p.E317V|MPP1_uc010nvg.2_Missense_Mutation_p.E327V|MPP1_uc011mzw.2_Missense_Mutation_p.E330V	NM_002436	NP_002427	Q00013	EM55_HUMAN	Homo sapiens membrane protein, palmitoylated 1, 55kDa (MPP1), transcript variant 1, mRNA.	347	Guanylate kinase-like.|Interaction with MPP5.				regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CTCCAAGAACTCATTGGCAGA	0.468													A	154009984	T	A	154009984	3	1	152	1	0	0	0	0	1	0	0	0	9809	1551	54	5	372	5	MPP1	23	154009984	Missense_Mutation	SNP	T	TCGA-19-1390-01A-01D-1495-08	976272	154009984	1260576	130	10390											
MTOR	2475	broad.mit.edu	37	chr1	11190804	11190804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtagtgtagcacagcttCgaagttcatcactgcccacg	9	12	9	11	2	2	0	2	0	0	0	3	1	2	0	1	0	3	5	1	0	3	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:11190804C>T	uc001asd.3	-	38	5516	c.5395G>A	c.(5395-5397)Gaa>Aaa	p.E1799K	MTOR_uc001asc.3_Missense_Mutation_p.E4K	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1799	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity	p.E1799K(8)		breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						AGCACAGCTTCGAAGTTCATC	0.582													T	11190804	C	T	11190804	3	4	153	1	0	0	0	0	1	0	0	0	10030	893	31	1	2334	1	MTOR	1	11190804	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		11190804	238059817	1	10391											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837525	12837525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaagcctggagctgtatcCtgcccctctggagagttatg	7	11	12	11	0	1	1	0	0	1	1	2	3	2	2	4	2	3	4	4	2	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:12837525C>T	uc001aui.3	+	2	1262	c.1235C>T	c.(1234-1236)cCt>cTt	p.P412L		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	412										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGTATCCTGCCCCTCTG	0.577													T	12837525	C	T	12837525	3	4	153	1	0	0	0	0	1	0	0	0	12510	681	24	2	1245	2	PRAMEF12	1	12837525	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1646721	12837525	236413096	2	10392											
DDI2	84301	broad.mit.edu	37	chr1	15978327	15978327	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctggaagagaggatgtaCggccagaggagattgcagac	12	5	18	6	1	0	4	0	0	0	4	0	8	0	6	1	5	2	3	1	5	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:15978327C>A	uc001awx.2	+	7	1333	c.1120C>A	c.(1120-1122)Cgg>Agg	p.R374R	RSC1A1_uc009voj.2_5'UTR	NM_032341	NP_115717	Q5TDH0	DDI2_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 2 (S. cerevisiae) (DDI2), mRNA.	374					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		AGAGGATGTACGGCCAGAGGA	0.512													A	15978327	C	A	15978327	2	1	153	1	0	0	0	0	0	0	0	1	4363	527	19	4		4	DDI2	1	15978327	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	3140802	15978327	233272294	3	10393											
C1orf64	149563	broad.mit.edu	37	chr1	16330879	16330879	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcctggagaccagctcCggtaagaggcggcaaaggga	12	3	16	10	2	0	2	0	0	0	2	1	4	1	3	3	6	1	3	3	6	2	1	rs143498880	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:16330879C>A	uc001axn.3	+	1	150	c.82_splice	c.e1+1	p.G28_splice		NM_178840	NP_849162	Q8NEQ6	CA064_HUMAN	Homo sapiens chromosome 1 open reading frame 64 (C1orf64), mRNA.	28										breast(2)|endometrium(1)|lung(3)	6		Colorectal(325;0.000435)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;2.08e-05)|BRCA - Breast invasive adenocarcinoma(304;9.19e-05)|Kidney(64;0.000165)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0114)|READ - Rectum adenocarcinoma(331;0.0649)		AGACCAGCTCCGGTAAGAGGC	0.647													A	16330879	C	A	16330879	2	1	153	1	0	0	0	0	0	0	0	1	2075	666	23	4		4	C1orf64	1	16330879	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	352552	16330879	232919742	4	10394											
CDA	978	broad.mit.edu	37	chr1	20945033	20945033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgctgccctcctcctttgGgcctgaggacctgcagaaga	6	9	12	14	0	0	3	0	1	0	2	2	4	2	4	5	2	3	3	5	2	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:20945033G>A	uc001bdk.3	+	3	592	c.413G>A	c.(412-414)gGg>gAg	p.G138E	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	138					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TCCTCCTTTGGGCCTGAGGAC	0.557													A	20945033	G	A	20945033	3	1	153	1	0	0	0	0	1	0	0	0	3082	1232	43	2	427	2	CDA	1	20945033	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4614154	20945033	228305588	5	10395											
HSPG2	3339	broad.mit.edu	37	chr1	22163397	22163397	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacagcacagtggaacTcaacgctggccccaatgctc	10	6	11	14	1	1	0	1	0	0	0	2	1	1	1	2	3	4	4	2	3	3	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:22163397T>A	uc009vqd.3	-	74	10296	c.10256A>T	c.(10255-10257)gAg>gTg	p.E3419V	HSPG2_uc001bfj.3_Missense_Mutation_p.E3418V	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3418	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACAGTGGAACTCAACGCTGGC	0.662													A	22163397	T	A	22163397	3	1	153	1	0	0	0	0	1	0	0	0	7488	1551	54	5	3014	5	HSPG2	1	22163397	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1218364	22163397	227087224	6	10396											
ARID1A	8289	broad.mit.edu	37	chr1	27099916	27099916	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctacagtcgtgctgccggCcctgggctaggaaatgtggc	6	8	14	13	2	0	0	0	0	0	0	1	1	0	1	3	4	3	2	3	4	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:27099916C>T	uc001bmv.1	+	14	4168	c.3795C>T	c.(3793-3795)ggC>ggT	p.G1265G	ARID1A_uc001bmt.1_Silent_p.G1264G|ARID1A_uc001bmu.1_Silent_p.G1265G|ARID1A_uc001bmw.1_Silent_p.G882G|ARID1A_uc001bmx.1_Silent_p.G111G|ARID1A_uc009vsm.1_5'UTR|ARID1A_uc009vsn.1_5'Flank	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	1265					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTGCTGCCGGCCCTGGGCTAG	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27099916	C	T	27099916	2	4	153	1	0	0	0	0	0	0	0	1	916	726	26	2		2	ARID1A	1	27099916	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	4936519	27099916	222150705	7	10397											
CYP4X1	260293	broad.mit.edu	37	chr1	47498946	47498946	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctagacggacccaagtGgttccagcatcgtcgcctac	8	8	11	14	3	1	1	0	0	1	1	4	2	2	2	3	3	2	3	3	3	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:47498946G>A	uc001cqt.3	+	3	648	c.398G>A	c.(397-399)tGg>tAg	p.W133*	CYP4X1_uc001cqr.3_Nonsense_Mutation_p.W132*|CYP4X1_uc001cqs.3_Nonsense_Mutation_p.W68*	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	133						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						GGACCCAAGTGGTTCCAGCAT	0.423													A	47498946	G	A	47498946	4	1	153	1	0	0	0	0	0	1	0	0	4226	1357	47	2	412	2	CYP4X1	1	47498946	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20399030	47498946	201751675	8	10398											
SYDE2	84144	broad.mit.edu	37	chr1	85624724	85624724	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttgtatttaaaaagtaGttttccccacagctgctcca	10	16	5	10	0	1	0	0	0	1	0	3	0	3	0	3	0	2	5	3	0	5	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:85624724G>C	uc009wcm.3	-	6	3343	c.3294C>G	c.(3292-3294)aaC>aaG	p.N1098K		NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN	Homo sapiens synapse defective 1, Rho GTPase, homolog 2 (C. elegans) (SYDE2), mRNA.	1098					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		TTAAAAAGTAGTTTTCCCCAC	0.388													C	85624724	G	C	85624724	3	2	153	1	0	0	0	0	1	0	0	0	15533	1020	36	4	294	4	SYDE2	1	85624724	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	38125778	85624724	163625897	9	10399											
COL24A1	255631	broad.mit.edu	37	chr1	86377068	86377068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttaaaaaattaccttttCgccaatgcttccagtcatcc	11	15	3	12	1	2	0	1	0	1	0	5	0	4	0	4	0	2	1	4	0	5	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:86377068C>T	uc001dlj.3	-	24	2686	c.2611G>A	c.(2611-2613)Gaa>Aaa	p.E871K	COL24A1_uc001dli.3_Missense_Mutation_p.E7K|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Missense_Mutation_p.E171K|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	871	Collagen-like 6.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTACCTTTTCGCCAATGCTT	0.308													T	86377068	C	T	86377068	3	4	153	1	0	0	0	0	1	0	0	0	3714	893	31	1	2677	1	COL24A1	1	86377068	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	752344	86377068	162873553	10	10400											
NOTCH2	4853	broad.mit.edu	37	chr1	120510201	120510201	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggaaggcgccatcCgtgttcacacattttcctgc	8	11	9	13	2	2	0	2	0	0	0	4	1	4	1	3	2	1	1	3	2	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:120510201C>A	uc001eik.3	-	7	1605	c.1308G>T	c.(1306-1308)acG>acT	p.T436T	NOTCH2_uc001eil.3_Silent_p.T436T|NOTCH2_uc021osy.1_Silent_p.T397T|NOTCH2_uc001eim.4_Silent_p.T353T	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	436	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	p.T436T(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCGCCATCCGTGTTCACAC	0.473			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				A	120510201	C	A	120510201	2	1	153	1	0	0	0	0	0	0	0	1	10624	639	23	4		4	NOTCH2	1	120510201	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	34133133	120510201	128740420	11	10401											
TCHH	7062	broad.mit.edu	37	chr1	152080460	152080460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctaggatttttctgtagcGttcttggcggcgcagctgct	4	15	12	10	3	3	0	0	0	3	0	3	1	3	1	0	3	3	5	0	3	2	6	rs71585886		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:152080460G>A	uc009wne.1	-	2	5505	c.5233C>T	c.(5233-5235)Cgc>Tgc	p.R1745C	TCHH_uc001ezp.2_Missense_Mutation_p.R1745C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1745	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTAGCGTTCTTGGCGG	0.587													A	152080460	G	A	152080460	3	1	153	1	0	0	0	0	1	0	0	0	15800	1145	40	1	602	1	TCHH	1	152080460	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	31570259	152080460	97170161	12	10402											
PPP1R12B	4660	broad.mit.edu	37	chr1	202418229	202418229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctagcactgccaatGgggttacagctactcctgtg	7	12	9	13	0	1	0	0	0	1	0	3	0	3	0	3	2	5	3	3	2	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:202418229G>A	uc001gya.2	+	12	1930	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R		NM_002481	NP_002472	O60237	MYPT2_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12B (PPP1R12B), transcript variant 1, mRNA.	594					regulation of muscle contraction|signal transduction	cytoplasm	enzyme activator activity			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(17)|ovary(4)|skin(3)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(75;0.166)			CACTGCCAATGGGGTTACAGC	0.507													A	202418229	G	A	202418229	3	1	153	1	0	0	0	0	1	0	0	0	12437	1348	47	2	1920	2	PPP1R12B	1	202418229	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	50337769	202418229	46832392	13	10403											
OR2B11	127623	broad.mit.edu	37	chr1	247614696	247614696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtatggtgtcattcacagCggtgtcagcacacgacagct	10	9	11	11	2	3	0	3	0	0	0	3	1	3	0	0	2	3	3	0	2	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr1:247614696C>T	uc010pyx.2	-	0	589	c.589G>A	c.(589-591)Gct>Act	p.A197T		NM_001004492	NP_001004492	Q5JQS5	OR2BB_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 11 (OR2B11), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCATTCACAGCGGTGTCAGCA	0.577													T	247614696	C	T	247614696	3	4	153	1	0	0	0	0	1	0	0	0	11064	768	27	1	367	1	OR2B11	1	247614696	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45196467	247614696	1635925	14	10404											
CIB4	130106	broad.mit.edu	37	chr2	26805768	26805768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgtcattgtccagatccGactcactcaggacctggcga	8	11	10	12	2	3	1	3	0	0	1	5	4	5	2	3	2	0	1	3	2	0	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:26805768G>A	uc002rhm.3	-	5	481	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_001029881	NP_001025052	A0PJX0	CIB4_HUMAN	Homo sapiens calcium and integrin binding family member 4 (CIB4), mRNA.	151	EF-hand 3.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGATCCGACTCACTCAG	0.542													A	26805768	G	A	26805768	3	1	153	1	0	0	0	0	1	0	0	0	3453	1059	37	1	113	1	CIB4	2	26805768	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		26805768	216393605	15	10405											
CAD	790	broad.mit.edu	37	chr2	27465508	27465508	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgatggtgggtgacctGaagcacggacgcacagtaca	12	6	13	10	3	1	2	1	2	0	0	1	4	1	3	1	3	2	3	1	3	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:27465508G>T	uc002rji.3	+	40	6405	c.6243G>T	c.(6241-6243)ctG>ctT	p.L2081L	CAD_uc010eyw.3_Silent_p.L2018L	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	2081	ATCase (Aspartate transcarbamylase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	TGGGTGACCTGAAGCACGGAC	0.587													T	27465508	G	T	27465508	2	4	153	1	0	0	0	0	0	0	0	1	2591	1277	45	4		4	CAD	2	27465508	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	659740	27465508	215733865	16	10406											
BIRC6	57448	broad.mit.edu	37	chr2	32710744	32710744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagaagttggacttgaacaGcaagcagaactgatgttgaa	15	9	11	6	0	0	5	0	3	0	2	0	6	0	6	0	1	4	4	0	1	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:32710744G>A	uc010ezu.3	+	39	7865	c.7731G>A	c.(7729-7731)caG>caA	p.Q2577Q		NM_016252	NP_057336	Q9NR09	BIRC6_HUMAN	Homo sapiens baculoviral IAP repeat containing 6 (BIRC6), mRNA.	2577					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GACTTGAACAGCAAGCAGAAC	0.373													A	32710744	G	A	32710744	2	1	153	1	0	0	0	0	0	0	0	1	1444	962	34	2		2	BIRC6	2	32710744	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	5245236	32710744	210488629	17	10407											
PRKCE	5581	broad.mit.edu	37	chr2	46228662	46228662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccccagacaaaatcaccAacagcggccagagaaggaaa	18	3	8	12	1	1	2	1	0	0	2	1	4	1	3	4	2	3	0	4	2	6	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:46228662A>G	uc002rut.3	+	6	1140	c.943A>G	c.(943-945)Aac>Gac	p.N315D		NM_005400	NP_005391	Q02156	KPCE_HUMAN	Homo sapiens protein kinase C, epsilon (PRKCE), mRNA.	315					activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			CAAAATCACCAACAGCGGCCA	0.552													G	46228662	A	G	46228662	3	3	153	1	0	0	0	0	1	0	0	0	12597	130	5	3	969	3	PRKCE	2	46228662	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	13517918	46228662	196970711	18	10408											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316179	73316179	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttgcggaggaagaagccTttggctttgcccatcttgcc	6	13	12	10	1	1	1	0	0	1	1	1	3	1	3	3	3	4	2	3	3	2	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:73316179T>C	uc002siu.4	-	1	937	c.696A>G	c.(694-696)aaA>aaG	p.K232K	RAB11FIP5_uc002sit.4_Silent_p.K154K	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	232					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GGAAGAAGCCTTTGGCTTTGC	0.602													C	73316179	T	C	73316179	2	2	153	1	0	0	0	0	0	0	0	1	12985	1606	56	3		3	RAB11FIP5	2	73316179	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	27087517	73316179	169883194	19	10409											
PAX8	7849	broad.mit.edu	37	chr2	113999249	113999249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgcgaaggtgctttcggGgtccgctgctgctgctctgt	2	12	15	12	4	1	0	0	0	1	0	3	1	2	0	2	3	5	5	2	3	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:113999249G>T	uc010yxt.2	-	6	822	c.656C>A	c.(655-657)cCc>cAc	p.P219H	PAX8_uc010yxu.2_Missense_Mutation_p.P219H|PAX8_uc002tjm.3_Missense_Mutation_p.P219H|PAX8_uc002tjn.3_Missense_Mutation_p.P219H|PAX8_uc010fku.1_Missense_Mutation_p.P219H|LOC654433_uc002tjq.4_Intron|LOC654433_uc010fks.3_Intron|LOC654433_uc010fkt.3_Intron|LOC654433_uc002tjr.4_Intron	NM_003466	NP_003457	Q06710	PAX8_HUMAN	Homo sapiens paired box 8 (PAX8), transcript variant PAX8A, mRNA.	219					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						GTGCTTTCGGGGTCCGCTGCT	0.597			T	PPARG	follicular thyroid		Thyroid dysgenesis						T	113999249	G	T	113999249	3	4	153	1	0	0	0	0	1	0	0	0	11561	1232	43	4	595	4	PAX8	2	113999249	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	40683070	113999249	129200124	20	10410											
TTN	7273	broad.mit.edu	37	chr2	179407009	179407009	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggatgctgctgcgacactCtatgacctcagactgcaagt	10	9	10	12	2	2	2	1	1	1	1	2	4	2	3	1	1	4	3	1	1	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179407009C>G	uc021vsy.1	-	297	89995	c.89770G>C	c.(89770-89772)Gag>Cag	p.E29924Q	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E23619Q|TTN_uc021vta.1_Missense_Mutation_p.E23552Q|TTN_uc021vtb.1_Missense_Mutation_p.E23427Q	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30851	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCGACACTCTATGACCTCA	0.463													G	179407009	C	G	179407009	3	3	153	1	0	0	0	0	1	0	0	0	16837	922	32	4	10561	4	TTN	2	179407009	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	65407760	179407009	63792364	21	10411											
TTN	7273	broad.mit.edu	37	chr2	179634616	179634616	+	Frame_Shift_Del	DEL	T	T	-																															ctcacactcaaaagaggcagTtttggtctcaggcacctcga																								rs78680811		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:179634616delT	uc021vsy.1	-	36	8917	c.8692delA	c.(8692-8694)actfs	p.T2898fs	TTN_uc021vsz.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vta.1_Frame_Shift_Del_p.T2852fs|TTN_uc021vtb.1_Frame_Shift_Del_p.T2852fs|TTN_uc002unb.2_Frame_Shift_Del_p.T2898fs	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2898	Ig-like 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAGAGGCAGTTTTGGTCTCA	0.368													-	179634616	T	-	179634616	7	5	153	1	0	1	0	1	0	0	0	0	16837	1725	60	0	102600	0	TTN	2	179634616	Frame_Shift_Del	DEL	T	TCGA-19-1790-01B-01D-1353-08	227607	179634616	63564757	22	10412											
MYO1B	4430	broad.mit.edu	37	chr2	192255148	192255148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacgccttcaggcaggccTatgaaccttgcctagaaaga	11	8	10	12	1	1	3	1	1	0	2	1	3	1	3	4	2	3	2	4	2	5	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:192255148T>C	uc010fsg.2	+	17	2167	c.1912T>C	c.(1912-1914)Tat>Cat	p.Y638H	MYO1B_uc002usq.2_Missense_Mutation_p.Y638H|MYO1B_uc002usr.2_Missense_Mutation_p.Y638H|MYO1B_uc002usu.2_5'Flank	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	638	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CAGGCAGGCCTATGAACCTTG	0.468													C	192255148	T	C	192255148	3	2	153	1	0	0	0	0	1	0	0	0	10145	1522	53	3	1978	3	MYO1B	2	192255148	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	12620532	192255148	50944225	23	10413											
TMEFF2	23671	broad.mit.edu	37	chr2	193049126	193049126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagtatctcactctgctgTttgcatgcagcctgtcgcag	8	12	9	12	1	2	0	1	0	2	0	4	0	2	0	1	0	4	6	1	0	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:193049126T>C	uc002utc.3	-	2	760	c.366A>G	c.(364-366)aaA>aaG	p.K122K	TMEFF2_uc002utd.1_Silent_p.K122K	NM_016192	NP_057276	Q9UIK5	TEFF2_HUMAN	Homo sapiens transmembrane protein with EGF-like and two follistatin-like domains 2 (TMEFF2), mRNA.	122	Kazal-like 1.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CACTCTGCTGTTTGCATGCAG	0.473													C	193049126	T	C	193049126	2	2	153	1	0	0	0	0	0	0	0	1	16114	1722	60	3		3	TMEFF2	2	193049126	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	793978	193049126	50150247	24	10414											
PAX3	5077	broad.mit.edu	37	chr2	223096854	223096854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctccctagtataaatGtcagggtaatgagttctctc	10	14	8	9	0	2	1	1	1	1	0	6	1	4	1	2	1	0	4	2	1	5	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:223096854G>C	uc010fwo.3	-	4	1116	c.735C>G	c.(733-735)gaC>gaG	p.D245E	PAX3_uc002vmt.2_Missense_Mutation_p.D245E|PAX3_uc002vmy.2_Missense_Mutation_p.D244E|PAX3_uc002vmv.2_Missense_Mutation_p.D245E|PAX3_uc002vmw.2_Missense_Mutation_p.D245E|PAX3_uc002vmx.2_Missense_Mutation_p.D245E	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	245					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D245Y(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGTATAAATGTCAGGGTAAT	0.527			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						C	223096854	G	C	223096854	3	2	153	1	0	0	0	0	1	0	0	0	11556	1368	48	4	834	4	PAX3	2	223096854	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	30047728	223096854	20102519	25	10415											
ESPNL	339768	broad.mit.edu	37	chr2	239036280	239036280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccatgtccctcagcccgGcctggcctggccatcctgac	5	7	10	19	1	1	1	1	1	0	0	3	1	3	1	7	3	2	0	7	3	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:239036280G>C	uc002vxq.4	+	6	1230	c.1120G>C	c.(1120-1122)Gcc>Ccc	p.A374P	ESPNL_uc010fyw.3_Missense_Mutation_p.A70P	NM_194312	NP_919288	Q6ZVH7	ESPNL_HUMAN	Homo sapiens espin-like (ESPNL), mRNA.	374	Pro-rich.									endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCTCAGCCCGGCCTGGCCTGG	0.672													C	239036280	G	C	239036280	3	2	153	1	0	0	0	0	1	0	0	0	5296	1203	42	4	1146	4	ESPNL	2	239036280	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	15939426	239036280	4163093	26	10416											
OR6B3	150681	broad.mit.edu	37	chr2	240985270	240985270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggggtgatgtcagacaCgtaccagatctctaggaaag	11	9	13	8	1	2	3	1	1	1	2	3	4	2	4	1	3	1	1	1	3	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:240985270C>T	uc010zoe.2	-	0	220	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	PRR21_uc010zod.2_5'Flank	NM_173351	NP_775486	Q8NGW1	OR6B3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 3 (OR6B3), mRNA.	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		ATGTCAGACACGTACCAGATC	0.557													T	240985270	C	T	240985270	3	4	153	1	0	0	0	0	1	0	0	0	11265	536	19	1	778	1	OR6B3	2	240985270	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1948990	240985270	2214103	27	10417											
MYEOV2	150678	broad.mit.edu	37	chr2	241066064	241066064	+	Frame_Shift_Del	DEL	T	T	-																															gtttcatcactcttaaaacaTttacccctccagtgagtaga																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241066064delT	uc002vyu.1	-	4	675	c.675delA	c.(673-675)aaafs	p.K225fs		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTTAAAACATTTACCCCTCC	0.488													-	241066064	T	-	241066064	7	5	153	1	0	1	0	1	0	0	0	0	10102	1490	52	0	87	0	MYEOV2	2	241066064	Frame_Shift_Del	DEL	T	TCGA-19-1790-01B-01D-1353-08	80794	241066064	2133309	28	10418											
MYEOV2	150678	broad.mit.edu	37	chr2	241069334	241069334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcacttcttacctcttcCgacaccacaggccgctctgc	7	10	7	17	2	3	0	0	0	3	0	4	2	4	0	4	1	3	2	4	1	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:241069334C>T	uc002vyu.1	-	3	375	c.375G>A	c.(373-375)tcG>tcA	p.S125S		NM_138336	NP_612209	Q8WXC6	MYOV2_HUMAN	Homo sapiens myeloma overexpressed 2 (MYEOV2), transcript variant 1, mRNA.	0										breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TTACCTCTTCCGACACCACAG	0.617													T	241069334	C	T	241069334	2	4	153	1	0	0	0	0	0	0	0	1	10102	639	23	1		1	MYEOV2	2	241069334	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	3270	241069334	2130039	29	10419											
D2HGDH	728294	broad.mit.edu	37	chr2	242683078	242683078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtcctggaggagctgAgccggtatgtggaggaacgg	7	7	19	8	3	0	1	0	1	0	0	1	5	1	5	2	6	4	3	2	6	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr2:242683078A>G	uc002wce.1	+	4	705	c.532A>G	c.(532-534)Agc>Ggc	p.S178G	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.S44G|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	178	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		GGAGGAGCTGAGCCGGTATGT	0.642													G	242683078	A	G	242683078	3	3	153	1	0	0	0	0	1	0	0	0	4247	304	11	3	546	3	D2HGDH	2	242683078	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	1613744	242683078	516295	30	10420											
DNAH1	25981	broad.mit.edu	37	chr3	52393305	52393305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaactggcctggccaggtgaCcatcgctgggtgccagacct	7	7	14	13	1	0	2	0	1	0	1	1	3	0	2	5	4	2	1	5	4	1	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:52393305C>G	uc011bef.2	+	25	4571	c.4310C>G	c.(4309-4311)aCc>aGc	p.T1437S		NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	1437	Stem (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)		GGCCAGGTGACCATCGCTGGG	0.627													G	52393305	C	G	52393305	3	3	153	1	0	0	0	0	1	0	0	0	4636	507	18	4	4408	4	DNAH1	3	52393305	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		52393305	145629125	31	10421											
OR5K2	402135	broad.mit.edu	37	chr3	98216751	98216751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattcttgctgtgcctgtgCtattacccccaaaatgttag	8	14	9	10	0	1	0	0	0	1	0	1	1	1	1	3	1	4	3	3	1	5	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:98216751C>G	uc011bgx.2	+	0	227	c.227C>G	c.(226-228)gCt>gGt	p.A76G		NM_001004737	NP_001004737	Q8NHB8	OR5K2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 2 (OR5K2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGCCTGTGCTATTACCCCC	0.413													G	98216751	C	G	98216751	3	3	153	1	0	0	0	0	1	0	0	0	11243	797	28	4	229	4	OR5K2	3	98216751	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45823446	98216751	99805679	32	10422											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721607	135721607	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattgaagaagagtcagatGgaaagaaagcattagataaa	21	8	10	2	0	1	6	1	1	0	5	1	7	1	7	0	1	1	1	0	1	8	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:135721607G>T	uc003eqv.2	+	1	1884	c.1267G>T	c.(1267-1269)Gga>Tga	p.G423*	PPP2R3A_uc011blz.2_Intron	NM_002718	NP_002709	Q06190	P2R3A_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit B'', alpha (PPP2R3A), transcript variant 1, mRNA.	423					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGAGTCAGATGGAAAGAAAGC	0.358													T	135721607	G	T	135721607	4	4	153	1	0	0	0	0	0	1	0	0	12470	1349	47	4	1269	4	PPP2R3A	3	135721607	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	37504856	135721607	62300823	33	10423											
ACPL2	92370	broad.mit.edu	37	chr3	141006223	141006223	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggatccggagcctctttcGaaagccccttgaactccttg	9	10	9	13	2	1	1	0	1	1	0	4	4	3	3	5	2	3	0	5	2	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:141006223G>T	uc003etu.3	+	6	732	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	ACPL2_uc003etv.3_Nonsense_Mutation_p.E145*|ACPL2_uc011bna.2_Nonsense_Mutation_p.E107*|ACPL2_uc011bnb.2_Nonsense_Mutation_p.E128*	NM_152282	NP_689495	Q8TE99	ACPL2_HUMAN	Homo sapiens acid phosphatase-like 2 (ACPL2), transcript variant 1, mRNA.	145						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						AGCCTCTTTCGAAAGCCCCTT	0.493													T	141006223	G	T	141006223	4	4	153	1	0	0	0	0	0	1	0	0	166	1059	37	4	447	4	ACPL2	3	141006223	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	5284616	141006223	57016207	34	10424											
PLCH1	23007	broad.mit.edu	37	chr3	155198910	155198910	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggccttcaaggccacccccTttcgtgttcttcaggtagcc	5	11	9	16	2	3	0	2	0	1	0	4	0	3	0	5	3	1	2	5	3	2	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:155198910T>A	uc021xge.1	-	22	5206	c.4929A>T	c.(4927-4929)aaA>aaT	p.K1643N	PLCH1_uc021xgd.1_3'UTR|PLCH1_uc021xgf.1_Missense_Mutation_p.K1605N	NM_001130960	NP_001124432	Q4KWH8	PLCH1_HUMAN	Homo sapiens phospholipase C, eta 1 (PLCH1), transcript variant 1, mRNA.	1643					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)			GGCCACCCCCTTTCGTGTTCT	0.562													A	155198910	T	A	155198910	3	1	153	1	0	0	0	0	1	0	0	0	12114	1606	56	5	156	5	PLCH1	3	155198910	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	14192687	155198910	42823520	35	10425											
MECOM	2122	broad.mit.edu	37	chr3	168834168	168834168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggcctgtggtacaagcCggaaggaaacagaccaggga	14	3	16	8	1	0	1	0	0	0	1	0	5	0	5	3	6	3	1	3	6	4	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:168834168C>T	uc011bpj.1	-	7	1895	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S	MECOM_uc010hwk.1_Missense_Mutation_p.G333S|MECOM_uc003ffj.3_Missense_Mutation_p.G375S|MECOM_uc003ffi.3_Missense_Mutation_p.G310S|MECOM_uc011bpi.1_Missense_Mutation_p.G311S|MECOM_uc003ffn.3_Missense_Mutation_p.G310S|MECOM_uc003ffk.2_Missense_Mutation_p.G310S|MECOM_uc003ffl.2_Missense_Mutation_p.G470S|MECOM_uc011bpk.1_Missense_Mutation_p.G310S|MECOM_uc010hwn.2_Missense_Mutation_p.G498S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGTACAAGCCGGAAGGAAAC	0.473													T	168834168	C	T	168834168	3	4	153	1	0	0	0	0	1	0	0	0	9497	652	23	1	2267	1	MECOM	3	168834168	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13635258	168834168	29188262	36	10426											
PIK3CA	5290	broad.mit.edu	37	chr3	178928108	178928127	+	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TGGATCAAATCCAAATAAAG	-																															ctgaaccctattggtgttacTggatcaaatccaaataaagt																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:178928108_178928127delTGGATCAAATCCAAATAAAG	uc003fjk.3	+	8	1561	c.1404_splice	c.e8+1	p.K468_splice		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	468	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P466S(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTGGTGTTACTGGATCAAATCCAAATAAAGTAAGGTTTTT	0.332		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178928127	TGGATCAAATCCAAATAAAG	-	178928108	8	5	153	1	0	1	0	1	0	0	1	0	11990	1567	55	0	1412	0	PIK3CA	3	178928108	Splice_Site	DEL	TGGATCAAATCCAAATAAAG	TCGA-19-1790-01B-01D-1353-08	10093940	178928108	19094322	37	10427											
HRG	3273	broad.mit.edu	37	chr3	186394875	186394875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaccgcctcatttgggaCatcccttccactggggtggg	5	11	13	12	1	1	0	1	0	0	0	3	1	3	1	4	4	1	1	4	4	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:186394875C>A	uc003fqq.3	+	6	804	c.781C>A	c.(781-783)Cat>Aat	p.H261N		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	261					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TCATTTGGGACATCCCTTCCA	0.468													A	186394875	C	A	186394875	3	1	153	1	0	0	0	0	1	0	0	0	7409	478	17	4	807	4	HRG	3	186394875	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	7466767	186394875	11627555	38	10428											
TNK2	10188	broad.mit.edu	37	chr3	195611779	195611779	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcaggtccttctccccaatGaggcaggtgaggctctgcag	7	8	13	13	1	2	2	0	2	2	0	4	2	3	2	3	4	1	4	3	4	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr3:195611779G>C	uc003fvu.1	-	3	903	c.360C>G	c.(358-360)ctC>ctG	p.L120L	TNK2_uc003fvs.1_Silent_p.L152L|TNK2_uc003fvt.1_Silent_p.L183L|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_5'UTR|TNK2_uc010hzx.1_Silent_p.L134L	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	120					positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCTCCCCAATGAGGCAGGTGA	0.672													C	195611779	G	C	195611779	2	2	153	1	0	0	0	0	0	0	0	1	16418	1277	45	4		4	TNK2	3	195611779	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	9216904	195611779	2410651	39	10429											
FGFR3	2261	broad.mit.edu	37	chr4	1807639	1807639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcctaccaggtggcccGgggcatggagtacttggcct	5	9	15	12	1	0	0	0	0	0	0	0	1	0	1	4	6	3	2	4	6	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1807639G>A	uc003gdr.3	+	12	2064	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	FGFR3_uc003gdu.2_Missense_Mutation_p.R605Q|FGFR3_uc003gds.3_Missense_Mutation_p.R491Q|FGFR3_uc003gdq.3_Missense_Mutation_p.R604Q	NM_000142	NP_000133	P22607	FGFR3_HUMAN	Homo sapiens fibroblast growth factor receptor 3 (FGFR3), transcript variant 1, mRNA.	603	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding	p.R603R(1)		NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CAGGTGGCCCGGGGCATGGAG	0.692		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				A	1807639	G	A	1807639	3	1	153	1	0	0	0	0	1	0	0	0	5916	1116	39	1	2009	1	FGFR3	4	1807639	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		1807639	189346637	40	10430											
WHSC2	7469	broad.mit.edu	37	chr4	1986590	1986590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaaccacgctgggcgtGgagggaaggtagctcgtgga	8	5	20	8	4	0	0	0	0	0	0	1	4	0	4	1	6	2	3	1	6	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:1986590G>A	uc003gem.3	-	7	1257	c.1014C>T	c.(1012-1014)tcC>tcT	p.S338S	WHSC2_uc003gek.3_Silent_p.S64S|WHSC2_uc003gel.3_Silent_p.S252S|WHSC2_uc003gen.3_Silent_p.S192S	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 2 (WHSC2), mRNA.	327					multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm				breast(1)|endometrium(6)|large_intestine(4)|lung(3)|ovary(1)|skin(3)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0155)			CGCTGGGCGTGGAGGGAAGGT	0.617													A	1986590	G	A	1986590	2	1	153	1	0	0	0	0	0	0	0	1	17466	1335	47	2		2	WHSC2	4	1986590	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	178951	1986590	189167686	41	10431											
CC2D2A	57545	broad.mit.edu	37	chr4	15589458	15589458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttcttgatctcctggCaggggatgaagaagaacatg	12	10	12	7	0	2	4	0	2	2	2	3	5	2	5	1	3	1	2	1	3	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:15589458C>T	uc010idv.2	+	32	4330	c.4085C>T	c.(4084-4086)gCa>gTa	p.A1362V	CC2D2A_uc003gnx.3_Missense_Mutation_p.A1254V|CC2D2A_uc003gnz.1_Non-coding_Transcript|CC2D2A_uc003goa.1_Non-coding_Transcript	NM_001080522	NP_001073991	Q9P2K1	C2D2A_HUMAN	Homo sapiens coiled-coil and C2 domain containing 2A (CC2D2A), transcript variant 1, mRNA.	1362					cell projection organization	cilium|microtubule basal body				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GATCTCCTGGCAGGGGATGAA	0.383													T	15589458	C	T	15589458	3	4	153	1	0	0	0	0	1	0	0	0	2754	710	25	2	4410	2	CC2D2A	4	15589458	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13602868	15589458	175564818	42	10432											
SLIT2	9353	broad.mit.edu	37	chr4	20598280	20598280	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgaacataacacttcaggTaagagatctctctctatgga	14	10	8	9	1	3	1	1	0	2	1	5	5	3	2	0	2	2	1	0	2	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:20598280T>A	uc003gpr.1	+	32	3765	c.3561_splice	c.e32+2	p.Q1187_splice	SLIT2_uc003gps.1_Splice_Site_p.Q1179_splice	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1187	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						ACACTTCAGGTAAGAGATCTC	0.358													A	20598280	T	A	20598280	5	1	153	1	0	0	0	0	0	0	1	0	14834	1652	57	5	3689	5	SLIT2	4	20598280	Splice_Site	SNP	T	TCGA-19-1790-01B-01D-1353-08	5008822	20598280	170555996	43	10433											
EPHA5	2044	broad.mit.edu	37	chr4	66361196	66361196	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctcatgggtataacTgtgaggtggacatttgccgc	8	12	12	9	1	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:66361196T>A	uc003hcy.3	-	3	1169	c.976A>T	c.(976-978)Agt>Tgt	p.S326C	EPHA5_uc003hcx.3_Missense_Mutation_p.S257C|EPHA5_uc003hcz.3_Missense_Mutation_p.S326C|EPHA5_uc011cah.2_Missense_Mutation_p.S326C|EPHA5_uc011cai.2_Missense_Mutation_p.S326C|EPHA5_uc003hda.2_Missense_Mutation_p.S326C	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	326	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)			A	66361196	T	A	66361196	3	1	153	1	0	0	0	0	1	0	0	0	5211	1580	55	5	2197	5	EPHA5	4	66361196	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	45762916	66361196	124793080	44	10434											
FGB	2244	broad.mit.edu	37	chr4	155490852	155490852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggaacagccggtaatgCcctcatggatggagcatctc	11	7	12	11	1	2	1	1	0	1	1	3	4	2	4	2	4	4	2	2	4	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:155490852C>T	uc003ioa.4	+	6	1184	c.1145C>T	c.(1144-1146)gCc>gTc	p.A382V	FGB_uc010ipv.3_Missense_Mutation_p.A323V	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	382	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GCCGGTAATGCCCTCATGGAT	0.473													T	155490852	C	T	155490852	3	4	153	1	0	0	0	0	1	0	0	0	5880	739	26	2	1171	2	FGB	4	155490852	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	89129656	155490852	35663424	45	10435											
PALLD	23022	broad.mit.edu	37	chr4	169824985	169824985	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagatctcgatgggacCtgctccctccataccacagc	11	7	8	15	1	1	1	0	0	1	1	4	4	3	2	4	1	3	1	4	1	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr4:169824985C>A	uc011cjx.2	+	14	2761	c.2550C>A	c.(2548-2550)acC>acA	p.T850T	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Silent_p.T833T|PALLD_uc003irv.3_Silent_p.T451T|PALLD_uc003irw.3_Silent_p.T346T|PALLD_uc003irx.3_Silent_p.T59T	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1057	Interaction with ACTN.|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TCGATGGGACCTGCTCCCTCC	0.438									Pancreatic Cancer, Familial Clustering of				A	169824985	C	A	169824985	2	1	153	1	0	0	0	0	0	0	0	1	11483	668	24	4		4	PALLD	4	169824985	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	14334133	169824985	21329291	46	10436											
ADAMTS16	170690	broad.mit.edu	37	chr5	5200249	5200249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctctctctcatagctttGgcatgattcatgatggagaa	9	15	8	9	0	4	3	2	2	3	1	7	4	4	3	0	2	1	2	0	2	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:5200249G>T	uc003jdl.3	+	8	1456	c.1318G>T	c.(1318-1320)Ggc>Tgc	p.G440C	ADAMTS16_uc003jdk.1_Missense_Mutation_p.G440C|ADAMTS16_uc003jdj.1_Missense_Mutation_p.G440C	NM_139056	NP_620687	Q8TE57	ATS16_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 16 (ADAMTS16), mRNA.	440	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						tcATAGCTTTGGCATGATTCA	0.438													T	5200249	G	T	5200249	3	4	153	1	0	0	0	0	1	0	0	0	261	1348	47	4	1352	4	ADAMTS16	5	5200249	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		5200249	175715011	47	10437											
CDH18	1016	broad.mit.edu	37	chr5	19503108	19503108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatatgttcaccttcattGtccttcagagtgaagtttgg	9	17	8	7	0	3	2	3	1	0	1	4	2	4	2	2	1	0	2	2	1	4	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:19503108G>C	uc003jgd.3	-	10	2157	c.1623C>G	c.(1621-1623)gaC>gaG	p.D541E	CDH18_uc011cnm.2_Missense_Mutation_p.D541E|CDH18_uc003jgc.3_Missense_Mutation_p.D541E|CDH18_uc021xwu.1_Missense_Mutation_p.D541E	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	541	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACCTTCATTGTCCTTCAGAG	0.353													C	19503108	G	C	19503108	3	2	153	1	0	0	0	0	1	0	0	0	3133	1368	48	4	761	4	CDH18	5	19503108	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	14302859	19503108	161412152	48	10438											
PRDM9	56979	broad.mit.edu	37	chr5	23522791	23522791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccccctacatttgtaaagGacagtgcagtggacaagggg	11	7	14	9	0	0	0	0	0	0	0	0	2	0	2	2	5	2	2	2	5	4	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:23522791G>T	uc003jgo.3	+	7	861	c.679G>T	c.(679-681)Gac>Tac	p.D227Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	227					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ATTTGTAAAGGACAGTGCAGT	0.552										HNSCC(3;0.000094)			T	23522791	G	T	23522791	3	4	153	1	0	0	0	0	1	0	0	0	12549	1174	41	4	705	4	PRDM9	5	23522791	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4019683	23522791	157392469	49	10439											
NIPBL	25836	broad.mit.edu	37	chr5	37064646	37064646	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtcattgagaaggtcaaaAcgaaattcagactctacgga	16	9	9	7	2	4	2	3	1	1	2	4	5	4	3	0	2	2	0	0	2	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:37064646A>G	uc003jkl.4	+	46	8566	c.8067A>G	c.(8065-8067)aaA>aaG	p.K2689K	NIPBL_uc003jkk.4_3'UTR|NIPBL_uc003jkn.3_3'UTR	NM_133433	NP_597677	Q6KC79	NIPBL_HUMAN	Homo sapiens Nipped-B homolog (Drosophila) (NIPBL), transcript variant A, mRNA.	2689					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAAGGTCAAAACGAAATTCAG	0.378													G	37064646	A	G	37064646	2	3	153	1	0	0	0	0	0	0	0	1	10504	40	2	3		3	NIPBL	5	37064646	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	13541855	37064646	143850614	50	10440											
C9	735	broad.mit.edu	37	chr5	39288825	39288825	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaataaattgtcctcacCttcagaaattttttgtttac	13	17	3	8	0	3	1	3	0	0	1	4	1	4	1	2	0	1	1	2	0	5	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:39288825C>A	uc003jlv.4	-	10	1734	c.1645_splice	c.e10+1	p.G549_splice		NM_001737	NP_001728	P02748	CO9_HUMAN	Homo sapiens complement component 9 (C9), mRNA.	549					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TTGTCCTCACCTTCAGAAATT	0.333													A	39288825	C	A	39288825	4	1	153	1	0	0	0	0	0	1	0	0	2469	695	24	4	42	4	C9	5	39288825	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	2224179	39288825	141626435	51	10441											
MTX3	345778	broad.mit.edu	37	chr5	79279592	79279592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttccgaggaggaagctgaGggctttggcgaagattgtca	9	10	16	6	2	1	2	1	1	0	1	2	6	2	4	1	4	1	3	1	4	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:79279592G>A	uc010jag.3	-	8	881	c.854C>T	c.(853-855)cCt>cTt	p.P285L	MTX3_uc010jah.3_3'UTR|MTX3_uc003kge.4_Missense_Mutation_p.P224L	NM_001167741	NP_001161213	Q5HYI7	MTX3_HUMAN	Homo sapiens metaxin 3 (MTX3), transcript variant 1, mRNA.	285					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		AGGAAGCTGAGGGCTTTGGCG	0.463													A	79279592	G	A	79279592	3	1	153	1	0	0	0	0	1	0	0	0	10045	1000	35	2	88	2	MTX3	5	79279592	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	39990767	79279592	101635668	52	10442											
SLC23A1	9963	broad.mit.edu	37	chr5	138716553	138716553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaccagaaatgcaaaggCactggcctggaacagcggca	14	4	13	10	1	0	1	0	0	0	1	0	3	0	3	2	5	4	3	2	5	4	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:138716553C>A	uc003leg.3	-	3	428	c.331G>T	c.(331-333)Gcc>Tcc	p.A111S	SLC23A1_uc003leh.3_Missense_Mutation_p.A111S	NM_152685	NP_689898	Q9UHI7	S23A1_HUMAN	Homo sapiens solute carrier family 23 (nucleobase transporters), member 1 (SLC23A1), transcript variant 2, mRNA.	111					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	AATGCAAAGGCACTGGCCTGG	0.602													A	138716553	C	A	138716553	3	1	153	1	0	0	0	0	1	0	0	0	14556	710	25	4	1521	4	SLC23A1	5	138716553	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	59436961	138716553	42198707	53	10443											
KIF4B	285643	broad.mit.edu	37	chr5	154396908	154396908	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaaccctgtctgtgccacCcccaatagcaagatcctgaa	11	10	6	14	0	1	2	0	1	1	1	2	2	2	2	5	0	3	1	5	0	5	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr5:154396908C>A	uc010jih.1	+	0	3649	c.3489C>A	c.(3487-3489)acC>acA	p.T1163T		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1163	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.A1162S(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCTGTGCCACCCCCAATAGCA	0.532													A	154396908	C	A	154396908	2	1	153	1	0	0	0	0	0	0	0	1	8362	610	22	4		4	KIF4B	5	154396908	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	15680355	154396908	26518352	54	10444											
CFB	629	broad.mit.edu	37	chr6	31915244	31915244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccctgcgtggctcccagCggcgaacgtgtcaggaaggt	7	8	14	12	4	1	0	1	0	0	0	2	2	2	1	2	4	4	1	2	4	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:31915244C>T	uc003nyj.4	+	3	882	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	CFB_uc011dor.2_Missense_Mutation_p.R704W|CFB_uc003nyi.2_Missense_Mutation_p.R202W	NM_001710	NP_001701	P00751	CFAB_HUMAN	Homo sapiens complement factor B (CFB), mRNA.	202	Sushi 3.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						TGGCTCCCAGCGGCGAACGTG	0.632													T	31915244	C	T	31915244	3	4	153	1	0	0	0	0	1	0	0	0	3308	759	27	1	618	1	CFB	6	31915244	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		31915244	139199823	55	10445											
TAP2	6891	broad.mit.edu	37	chr6	32806007	32806007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtctcaggtcagggagccGcatggctctgtcaacggata	8	8	15	10	2	4	0	3	0	2	0	5	2	4	2	1	5	2	2	1	5	2	1	rs61736918	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:32806007G>A	uc011dqf.1	-	1	126	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	TAP2_uc003ocb.1_Missense_Mutation_p.R2W|TAP2_uc003occ.3_Missense_Mutation_p.R2W|TAP2_uc003ocd.3_Missense_Mutation_p.R2W	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	2					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TCAGGGAGCCGCATGGCTCTG	0.622													A	32806007	G	A	32806007	3	1	153	1	0	0	0	0	1	0	0	0	15648	1086	38	1	2185	1	TAP2	6	32806007	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	890763	32806007	138309060	56	10446											
LEMD2	221496	broad.mit.edu	37	chr6	33740529	33740529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggaactccacagctCggtcccagacacgcttcatg	10	6	10	15	2	1	1	1	0	0	1	4	2	3	2	3	3	2	2	3	3	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:33740529C>A	uc011drm.2	-	8	1401	c.1388G>T	c.(1387-1389)cGa>cTa	p.R463L	LEMD2_uc010jvg.3_Missense_Mutation_p.R172L|LEMD2_uc011drl.2_Missense_Mutation_p.R161L	NM_181336	NP_851853	Q8NC56	LEMD2_HUMAN	Homo sapiens LEM domain containing 2 (LEMD2), transcript variant 1, mRNA.	463						integral to nuclear inner membrane		p.R463Q(2)		central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CTCCACAGCTCGGTCCCAGAC	0.627													A	33740529	C	A	33740529	3	1	153	1	0	0	0	0	1	0	0	0	8779	884	31	4	127	4	LEMD2	6	33740529	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	934522	33740529	137374538	57	10447											
PGK2	5232	broad.mit.edu	37	chr6	49754282	49754282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accaagtatagccagaaaggGtctcactgggttttccaagg	12	9	11	9	0	1	1	1	0	1	1	3	1	2	1	3	3	1	2	3	3	5	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:49754282G>T	uc003ozu.3	-	0	772	c.619C>A	c.(619-621)Ccc>Acc	p.P207T		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	207					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity	p.P207P(1)		autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					GCCAGAAAGGGTCTCACTGGG	0.428													T	49754282	G	T	49754282	3	4	153	1	0	0	0	0	1	0	0	0	11868	1261	44	4	638	4	PGK2	6	49754282	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	16013753	49754282	121360785	58	10448											
ROS1	57120	broad.mit.edu	37	chr6	117892118	117892118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctttagggaatcttgatCcttattgggaggaaaaaaga	13	14	10	4	0	2	2	0	1	2	1	3	5	3	5	1	3	0	0	1	3	6	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:117892118C>A	uc003pxu.3	-	6	1071	c.817_splice	c.e6-1	p.D273_splice	ROS1_uc003pxq.1_Splice_Site_p.D46_splice|ROS1_uc003pxv.3_Splice_Site_p.D265_splice	NM_020399	NP_065132	P08922	ROS_HUMAN	Homo sapiens golgi-associated PDZ and coiled-coil motif containing (GOPC), transcript variant 1, mRNA.	0	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAATCTTGATCCTTATTGGGA	0.328			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117892118	C	A	117892118	3	1	153	1	0	0	0	0	1	0	0	0	13622	869	30	4		4	ROS1	6	117892118	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	68137836	117892118	53222949	59	10449											
UTRN	7402	broad.mit.edu	37	chr6	145103130	145103130	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaaaatgaccagctccTcagtgttccagatgtcatca	13	9	7	12	0	3	2	3	1	0	1	5	3	5	2	4	0	2	2	4	0	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:145103130T>C	uc003qkt.3	+	59	8797	c.8705T>C	c.(8704-8706)cTc>cCc	p.L2902P		NM_007124	NP_009055	P46939	UTRO_HUMAN	Homo sapiens utrophin (UTRN), mRNA.	2902	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GACCAGCTCCTCAGTGTTCCA	0.403													C	145103130	T	C	145103130	3	2	153	1	0	0	0	0	1	0	0	0	17205	1551	54	3	8943	3	UTRN	6	145103130	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	27211012	145103130	26011937	60	10450											
ESR1	2099	broad.mit.edu	37	chr6	152163775	152163775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggtggcagagaaagattgGccagtaccaatgacaaggga	15	5	15	6	0	0	3	0	1	0	2	0	5	0	4	2	4	1	2	2	4	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:152163775G>T	uc010kio.3	+	2	714	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ESR1_uc021zgx.1_Missense_Mutation_p.A166S|ESR1_uc021zgy.1_Non-coding_Transcript|ESR1_uc003qom.4_Missense_Mutation_p.A166S|ESR1_uc010kin.3_Missense_Mutation_p.A166S|ESR1_uc010kip.3_Missense_Mutation_p.A166S|ESR1_uc003qon.4_Missense_Mutation_p.A166S|ESR1_uc010kir.3_Intron|ESR1_uc003qoo.4_Missense_Mutation_p.A166S|ESR1_uc010kiq.3_Intron|ESR1_uc021zgz.1_Non-coding_Transcript|ESR1_uc011eeu.2_Non-coding_Transcript|ESR1_uc011eev.2_5'UTR|ESR1_uc011eew.2_5'UTR|ESR1_uc011eet.2_Non-coding_Transcript|ESR1_uc010kis.3_5'UTR|ESR1_uc021zha.1_5'Flank	NM_001122742	NP_001116214	P03372	ESR1_HUMAN	Homo sapiens estrogen receptor 1 (ESR1), transcript variant 4, mRNA.	166	Modulating; mediates interaction with MACROD1.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	AGAAAGATTGGCCAGTACCAA	0.453													T	152163775	G	T	152163775	3	4	153	1	0	0	0	0	1	0	0	0	5297	1203	42	4	502	4	ESR1	6	152163775	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	7060645	152163775	18951292	61	10451											
TIAM2	26230	broad.mit.edu	37	chr6	155451173	155451173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcctggcccccggcatGcctgaccccagtctccatgc	4	9	8	20	1	1	1	0	1	1	0	4	1	3	1	8	2	2	1	8	2	0	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:155451173G>T	uc003qqb.3	+	5	2089	c.816G>T	c.(814-816)atG>atT	p.M272I	TIAM2_uc003qqe.3_Missense_Mutation_p.M272I	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	272					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CCCCCGGCATGCCTGACCCCA	0.597													T	155451173	G	T	155451173	3	4	153	1	0	0	0	0	1	0	0	0	15991	1319	46	4	818	4	TIAM2	6	155451173	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3287398	155451173	15663894	62	10452											
IGF2R	3482	broad.mit.edu	37	chr6	160445736	160445736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtttgtagagacataGgtatgaatctttgtggggct	10	15	12	4	0	2	2	1	1	1	1	2	3	2	2	0	3	0	4	0	3	5	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr6:160445736G>T	uc003qta.3	+	5	794	c.646_splice	c.e5+1	p.D216_splice		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	216					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAGAGACATAGGTATGAATCT	0.438													T	160445736	G	T	160445736	3	4	153	1	0	0	0	0	1	0	0	0	7634	1014	35	4	664	4	IGF2R	6	160445736	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4994563	160445736	10669331	63	10453											
STARD3NL	83930	broad.mit.edu	37	chr7	38254036	38254039	+	Splice_Site	DEL	GTAA	GTAA	-																															cttcatattttgatatatttGtaagtattttttatgtttca																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38254036_38254039delGTAA	uc003tfr.3	+	3	576	c.303_splice	c.e3+1	p.F101_splice		NM_032016	NP_114405	O95772	MENTO_HUMAN	Homo sapiens STARD3 N-terminal like (STARD3NL), mRNA.	101	MENTAL.					integral to membrane|late endosome membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10						TGATATATTTGTAAGTATTTTTTA	0.338													-	38254039	GTAA	-	38254036	8	5	153	1	0	1	0	1	0	0	1	0	15354	1391	48	0	310	0	STARD3NL	7	38254036	Splice_Site	DEL	GTAA	TCGA-19-1790-01B-01D-1353-08		38254036	120884627	64	10454											
AMPH	273	broad.mit.edu	37	chr7	38516553	38516553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccactagcttcctgctgCgcttggcgatgcgattctgt	5	13	11	12	3	1	0	0	0	1	0	3	2	3	0	2	1	4	3	2	1	1	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:38516553C>T	uc003tgu.3	-	5	629	c.413G>A	c.(412-414)cGc>cAc	p.R138H	AMPH_uc003tgv.3_Missense_Mutation_p.R138H	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	138	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						CTTCCTGCTGCGCTTGGCGAT	0.502													T	38516553	C	T	38516553	3	4	153	1	0	0	0	0	1	0	0	0	588	768	27	1	1738	1	AMPH	7	38516553	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	262517	38516553	120622110	65	10455											
C7orf25	79020	broad.mit.edu	37	chr7	42949845	42949845	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactctggtcacctgcaaaaGttcagggccctcatcatctg	10	10	8	13	0	6	0	4	0	2	0	6	0	6	0	2	2	2	2	2	2	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:42949845G>C	uc003thx.4	-	1	1314	c.829C>G	c.(829-831)Ctt>Gtt	p.L277V	C7orf25_uc010kxq.3_Missense_Mutation_p.L219V|C7orf25_uc010kxr.3_Missense_Mutation_p.L277V|C7orf25_uc022ace.1_Missense_Mutation_p.L219V	NM_001099858	NP_076959	Q9BPX7	CG025_HUMAN	Homo sapiens chromosome 7 open reading frame 25 (C7orf25), transcript variant 1, mRNA.	219								p.L276F(1)		endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						ACCTGCAAAAGTTCAGGGCCC	0.438													C	42949845	G	C	42949845	3	2	153	1	0	0	0	0	1	0	0	0	2404	1029	36	4	614	4	C7orf25	7	42949845	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4433292	42949845	116188818	66	10456											
ADCY1	107	broad.mit.edu	37	chr7	45632382	45632382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgccttgctcttcGtcggtgtgaacatgtatggg	6	13	13	9	2	1	1	0	1	1	0	3	1	1	1	2	2	4	2	2	2	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:45632382G>A	uc003tne.4	+	1	682	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	ADCY1_uc003tnd.3_5'UTR	NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	222					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	CTTGCTCTTCGTCGGTGTGAA	0.592													A	45632382	G	A	45632382	3	1	153	1	0	0	0	0	1	0	0	0	292	1145	40	1	670	1	ADCY1	7	45632382	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2682537	45632382	113506281	67	10457											
TNS3	64759	broad.mit.edu	37	chr7	47408183	47408183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagggtgggcgagcctgggGaggggcctgtgctcagctct	4	7	19	11	1	2	0	1	0	1	0	2	2	2	1	3	6	3	2	3	6	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:47408183G>A	uc003tnw.3	-	16	2418	c.2060C>T	c.(2059-2061)tCc>tTc	p.S687F	TNS3_uc022acn.1_Missense_Mutation_p.S244F	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	687						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CGAGCCTGGGGAGGGGCCTGT	0.622													A	47408183	G	A	47408183	3	1	153	1	0	0	0	0	1	0	0	0	16444	1174	41	2	2337	2	TNS3	7	47408183	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	1775801	47408183	111730480	68	10458											
POM121L12	285877	broad.mit.edu	37	chr7	53103674	53103674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgccctgcccttcccGgggagaccgctctggggcga	4	5	17	15	4	1	1	0	0	1	1	2	4	2	2	4	6	1	1	4	6	0	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:53103674G>C	uc003tpz.3	+	0	326	c.310G>C	c.(310-312)Ggg>Cgg	p.G104R		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	104										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						TGCCCTTCCCGGGGAGACCGC	0.721													C	53103674	G	C	53103674	3	2	153	1	0	0	0	0	1	0	0	0	12318	1116	39	4	312	4	POM121L12	7	53103674	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	5695491	53103674	106034989	69	10459											
EGFR	1956	broad.mit.edu	37	chr7	55249121	55249121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actatgtccgggaacacaaaGacaatattggctcccagtac	14	8	8	11	1	0	1	0	0	0	1	2	2	2	2	2	2	2	2	2	2	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:55249121G>C	uc003tqk.3	+	19	2665	c.2419G>C	c.(2419-2421)Gac>Cac	p.D807H	EGFR_uc022adm.1_Missense_Mutation_p.D807H|EGFR_uc010kzg.2_Missense_Mutation_p.D762H|EGFR_uc022adn.1_Missense_Mutation_p.D762H|EGFR_uc011kco.2_Missense_Mutation_p.D754H|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_Missense_Mutation_p.D42H	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	807	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.K806E(4)|p.D807N(3)|p.K806A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGAACACAAAGACAATATTGG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55249121	G	C	55249121	3	2	153	1	0	0	0	0	1	0	0	0	5006	942	33	4	2761	4	EGFR	7	55249121	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2145447	55249121	103889542	70	10460											
RSBN1L	222194	broad.mit.edu	37	chr7	77402516	77402516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcgaacaagtgagcccCgtgagatgctctttgaagac	11	9	10	11	2	1	4	0	3	1	2	2	6	1	4	3	0	4	1	3	0	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:77402516C>T	uc010ldt.1	+	5	1722	c.1678C>T	c.(1678-1680)Cgt>Tgt	p.R560C		NM_198467	NP_940869	Q6PCB5	RSBNL_HUMAN	Homo sapiens round spermatid basic protein 1-like (RSBN1L), mRNA.	560						nucleus				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGTGAGCCCCGTGAGATGCT	0.383													T	77402516	C	T	77402516	3	4	153	1	0	0	0	0	1	0	0	0	13788	652	23	1	1700	1	RSBN1L	7	77402516	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	22153395	77402516	81736147	71	10461											
AKAP9	10142	broad.mit.edu	37	chr7	91668077	91668078	+	Frame_Shift_Ins	INS	-	-	GA																															aagataaaacatttatagttINSagacagtctgtaagtatgcc																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:91668077_91668078insGA	uc003ulg.3	+	16	4908_4909	c.4683_4684insGA	c.(4681-4686)gttagafs	p.V1561fs	AKAP9_uc003ule.2_Frame_Shift_Ins_p.V1573fs|AKAP9_uc003ulf.3_Frame_Shift_Ins_p.V1561fs|AKAP9_uc003uli.3_Frame_Shift_Ins_p.V1186fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	1573					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.S1561*(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CATTTATAGTTAGACAGTCTGT	0.287			T	BRAF	papillary thyroid								GA	91668078	-	GA	91668077	7	5	153	1	0	1	1	0	0	0	0	0	459	1741	61	0	4749	0	AKAP9	7	91668077	Frame_Shift_Ins	INS	-	TCGA-19-1790-01B-01D-1353-08	14265561	91668077	67470586	72	10462											
ZAN	7455	broad.mit.edu	37	chr7	100350019	100350019	+	Frame_Shift_Del	DEL	A	A	-																															aaaacccaccacccccacagAaaaacccaccatctccccag																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100350019delA	uc003uwj.3	+	13	2456	c.2291delA	c.(2290-2292)gaafs	p.E764fs	ZAN_uc003uwk.3_Frame_Shift_Del_p.E764fs|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	764	66 X heptapeptide repeats (approximate) (mucin-like domain).				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCCCACAGAAAAACCCACC	0.527													-	100350019	A	-	100350019	7	5	153	1	0	1	0	1	0	0	0	0	17615	246	9	0	2341	0	ZAN	7	100350019	Frame_Shift_Del	DEL	A	TCGA-19-1790-01B-01D-1353-08	8681942	100350019	58788644	73	10463											
MUC17	140453	broad.mit.edu	37	chr7	100674925	100674925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtacaacatctacaaatgtCgtggagccaagaatgtattt	14	11	9	7	1	1	1	0	0	1	1	2	2	1	2	1	2	4	2	1	2	7	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:100674925C>T	uc003uxp.1	+	2	281	c.228C>T	c.(226-228)gtC>gtT	p.V76V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	76						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)					CTACAAATGTCGTGGAGCCAA	0.453													T	100674925	C	T	100674925	2	4	153	1	0	0	0	0	0	0	0	1	10050	871	31	1		1	MUC17	7	100674925	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	324906	100674925	58463738	74	10464											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558410	113558410	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaccaaaatgtaccaacAgaagtttcataacgtataca	17	11	5	8	1	1	2	1	1	0	1	1	2	1	2	2	0	4	3	2	0	8	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:113558410A>C	uc010ljy.1	-	0	673	c.642T>G	c.(640-642)tcT>tcG	p.S214S		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	214	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						ATGTACCAACAGAAGTTTCAT	0.353													C	113558410	A	C	113558410	2	2	153	1	0	0	0	0	0	0	0	1	12453	175	7	5		5	PPP1R3A	7	113558410	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	12883485	113558410	45580253	75	10465											
CALD1	800	broad.mit.edu	37	chr7	134552504	134552504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggatgattttgagcgtcGcagagaacttagaaggcaaa	14	9	12	6	2	0	4	0	2	0	2	1	6	0	5	0	2	2	2	0	2	4	3	rs142583902		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:134552504G>A	uc003vrz.3	+	2	486	c.20G>A	c.(19-21)cGc>cAc	p.R7H	CALD1_uc003vry.3_Missense_Mutation_p.R7H|CALD1_uc003vsb.3_Missense_Mutation_p.R7H|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R7H	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	7					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TTTGAGCGTCGCAGAGAACTT	0.433													A	134552504	G	A	134552504	3	1	153	1	0	0	0	0	1	0	0	0	2607	1087	38	1	22	1	CALD1	7	134552504	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20994094	134552504	24586159	76	10466											
NUP205	23165	broad.mit.edu	37	chr7	135311087	135311087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgccaagtctatgacatgCgcccagaaacggacccgcag	13	5	10	13	3	1	2	0	1	1	1	1	3	1	3	3	1	3	1	3	1	4	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:135311087C>T	uc003vsw.3	+	32	4802	c.4771C>T	c.(4771-4773)Cgc>Tgc	p.R1591C		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1591					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	p.R1591H(1)		breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CTATGACATGCGCCCAGAAAC	0.423													T	135311087	C	T	135311087	3	4	153	1	0	0	0	0	1	0	0	0	10835	768	27	1	4901	1	NUP205	7	135311087	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	758583	135311087	23827576	77	10467											
FAM115A	9747	broad.mit.edu	37	chr7	143573699	143573699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagcagagggagtcgcCatggctctattggtttctgc	8	10	14	9	1	2	1	0	0	2	1	3	2	2	2	1	4	2	4	1	4	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr7:143573699C>A	uc003wdo.2	-	1	136	c.3G>T	c.(1-3)atG>atT	p.M1I	FAM115A_uc011ktu.2_Intron|FAM115A_uc003wdp.2_Missense_Mutation_p.M1I	NM_014719	NP_001193870	Q9Y4C2	F115A_HUMAN	Homo sapiens family with sequence similarity 115, member A (FAM115A), transcript variant 1, mRNA.	1										NS(1)|endometrium(1)|lung(5)	7	Melanoma(164;0.0903)					AGGGAGTCGCCATGGCTCTAT	0.473													A	143573699	C	A	143573699	3	1	153	1	0	0	0	0	1	0	0	0	5450	594	21	4	2794	4	FAM115A	7	143573699	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	8262612	143573699	15564964	78	10468											
ANK1	286	broad.mit.edu	37	chr8	41530099	41530099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgaatccactgtgtcGtcctccacaagttccagaga	10	10	8	13	1	1	2	0	1	1	1	6	3	5	2	4	0	0	2	4	0	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:41530099G>A	uc003xok.3	-	37	4953	c.4869C>T	c.(4867-4869)gaC>gaT	p.D1623D	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Intron|ANK1_uc003xoi.3_Silent_p.D1623D|ANK1_uc003xoj.3_Silent_p.D1623D|ANK1_uc003xol.3_Intron|ANK1_uc003xom.3_Silent_p.D1664D	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1623	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.E1622K(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CCACTGTGTCGTCCTCCACAA	0.562													A	41530099	G	A	41530099	2	1	153	1	0	0	0	0	0	0	0	1	620	1136	40	1		1	ANK1	8	41530099	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08		41530099	104833923	79	10469											
TRHR	7201	broad.mit.edu	37	chr8	110131345	110131345	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccctacaggactctagtGgttgtcaactcatttctctc	8	14	7	12	0	4	0	2	0	2	0	6	1	4	1	1	2	3	1	1	2	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:110131345G>A	uc003ymz.4	+	1	947	c.858G>A	c.(856-858)gtG>gtA	p.V286V		NM_003301	NP_003292	P34981	TRFR_HUMAN	Homo sapiens thyrotropin-releasing hormone receptor (TRHR), mRNA.	286						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GGACTCTAGTGGTTGTCAACT	0.418													A	110131345	G	A	110131345	2	1	153	1	0	0	0	0	0	0	0	1	16581	1335	47	2		2	TRHR	8	110131345	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	68601246	110131345	36232677	80	10470											
TRPS1	7227	broad.mit.edu	37	chr8	116599737	116599737	+	Frame_Shift_Del	DEL	C	C	-																															ggctgtagtgatgtcctgttCctggcagtgaacagtgttga																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116599737delC	uc003yny.3	-	4	2769	c.2191delG	c.(2191-2193)gaafs	p.E731fs	TRPS1_uc011lhy.2_Frame_Shift_Del_p.E722fs|TRPS1_uc003ynz.3_Frame_Shift_Del_p.E718fs|TRPS1_uc010mcy.3_Frame_Shift_Del_p.E718fs	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	718	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			ATGTCCTGTTCCTGGCAGTGA	0.507									Langer-Giedion syndrome				-	116599737	C	-	116599737	7	5	153	1	0	1	0	1	0	0	0	0	16694	864	30	0	1705	0	TRPS1	8	116599737	Frame_Shift_Del	DEL	C	TCGA-19-1790-01B-01D-1353-08	6468392	116599737	29764285	81	10471											
TRPS1	7227	broad.mit.edu	37	chr8	116632180	116632180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctgatctgcagaaaattCtttgttctttccagatacct	10	16	5	10	0	4	3	0	1	4	2	5	3	5	3	2	0	2	2	2	0	3	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:116632180C>T	uc003yny.3	-	2	723	c.145G>A	c.(145-147)Gaa>Aaa	p.E49K	TRPS1_uc011lhy.2_Missense_Mutation_p.E40K|TRPS1_uc003ynz.3_Missense_Mutation_p.E36K|TRPS1_uc010mcy.3_Missense_Mutation_p.E36K	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	36					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGAAAATTCTTTGTTCTTT	0.448									Langer-Giedion syndrome				T	116632180	C	T	116632180	3	4	153	1	0	0	0	0	1	0	0	0	16694	922	32	2	3759	2	TRPS1	8	116632180	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	32443	116632180	29731842	82	10472											
COMMD5	28991	broad.mit.edu	37	chr8	146076337	146076337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgctggctcccaaatacCacgctggccaagtccccgac	8	5	10	18	3	0	0	0	0	0	0	2	1	2	0	6	3	1	3	6	3	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr8:146076337C>T	uc022bcr.1	-	0	387	c.387G>A	c.(385-387)gtG>gtA	p.V129V	COMMD5_uc003zel.1_Non-coding_Transcript|COMMD5_uc003zem.3_Silent_p.V129V|COMMD5_uc003zen.3_Silent_p.V129V|COMMD5_uc003zeo.4_Silent_p.V129V|COMMD5_uc010mgf.2_Silent_p.V129V	NM_014066	NP_054785	Q9GZQ3	COMD5_HUMAN	Homo sapiens COMM domain containing 5 (COMMD5), transcript variant 1, mRNA.	129						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TCCCAAATACCACGCTGGCCA	0.652													T	146076337	C	T	146076337	2	4	153	1	0	0	0	0	0	0	0	1	3750	581	21	2		2	COMMD5	8	146076337	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	29444157	146076337	287685	83	10473											
PIGO	84720	broad.mit.edu	37	chr9	35095288	35095288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagggagacaggaggctctCtaggcacgtgtgaatgctgg	9	8	17	7	1	1	2	0	1	1	1	2	4	1	3	0	5	1	4	0	5	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:35095288C>A	uc003zwd.3	-	1	671	c.275G>T	c.(274-276)aGa>aTa	p.R92I	PIGO_uc003zwe.3_Missense_Mutation_p.R92I|PIGO_uc003zwf.3_Missense_Mutation_p.R92I|PIGO_uc003zwc.1_Missense_Mutation_p.R92I|PIGO_uc003zwg.2_5'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	92					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			AGGAGGCTCTCTAGGCACGTG	0.582													A	35095288	C	A	35095288	3	1	153	1	0	0	0	0	1	0	0	0	11971	913	32	4	3034	4	PIGO	9	35095288	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		35095288	106118143	84	10474											
OR2K2	26248	broad.mit.edu	37	chr9	114090010	114090010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccacaggtagaaaaagccTtgtttcttccctctgctgag	10	11	8	12	0	2	2	0	1	2	1	3	2	3	2	3	1	2	3	3	1	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:114090010T>C	uc011lwp.2	-	0	704	c.704A>G	c.(703-705)aAg>aGg	p.K235R		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						AGAAAAAGCCTTGTTTCTTCC	0.423													C	114090010	T	C	114090010	3	2	153	1	0	0	0	0	1	0	0	0	11081	1609	56	3	249	3	OR2K2	9	114090010	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	78994722	114090010	27123421	85	10475											
STXBP1	6812	broad.mit.edu	37	chr9	130422360	130422360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgccgactgctaaatacCgggctgcacacgtcttcttc	8	9	8	16	4	2	0	0	0	2	0	3	1	2	0	3	1	3	3	3	1	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr9:130422360C>T	uc004brk.2	+	4	495	c.298C>T	c.(298-300)Cgg>Tgg	p.R100W	STXBP1_uc004brl.2_Missense_Mutation_p.R100W	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	100					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						TGCTAAATACCGGGCTGCACA	0.527													T	130422360	C	T	130422360	3	4	153	1	0	0	0	0	1	0	0	0	15448	643	23	1	316	1	STXBP1	9	130422360	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	16332350	130422360	10791071	86	10476											
ITGB1	3688	broad.mit.edu	37	chr10	33211272	33211272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagggatcaagtttttcagCtcctgcaattaaaagataaa	15	13	7	6	0	2	1	2	0	0	1	3	2	3	2	1	1	2	3	1	1	7	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:33211272C>A	uc001iws.4	-	8	1177	c.1041G>T	c.(1039-1041)gaG>gaT	p.E347D	ITGB1_uc001iwr.4_Missense_Mutation_p.E347D|ITGB1_uc001iwt.4_Missense_Mutation_p.E347D	NM_133376	NP_596867	P05556	ITB1_HUMAN	Homo sapiens integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12) (ITGB1), transcript variant 1E, mRNA.	347	VWFA.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				AGTTTTTCAGCTCCTGCAATT	0.348													A	33211272	C	A	33211272	3	1	153	1	0	0	0	0	1	0	0	0	7948	796	28	4	1625	4	ITGB1	10	33211272	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		33211272	102323475	87	10477											
ALOX5	240	broad.mit.edu	37	chr10	45936078	45936078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtgcaccccattttCaaggtacagccagctaccgc	8	9	8	16	1	1	0	1	0	0	0	1	0	1	0	5	1	6	4	5	1	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:45936078C>A	uc001jce.3	+	7	1281	c.1182C>A	c.(1180-1182)ttC>ttA	p.F394L	ALOX5_uc009xmt.3_Missense_Mutation_p.F394L|ALOX5_uc010qfg.2_Missense_Mutation_p.F394L|ALOX5_uc021ppr.1_Missense_Mutation_p.F394L	NM_000698	NP_000689	P09917	LOX5_HUMAN	Homo sapiens arachidonate 5-lipoxygenase (ALOX5), transcript variant 1, mRNA.	394	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	ACCCCATTTTCAAGGTACAGC	0.582													A	45936078	C	A	45936078	3	1	153	1	0	0	0	0	1	0	0	0	540	825	29	4	1212	4	ALOX5	10	45936078	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	12724806	45936078	89598669	88	10478											
CDH23	64072	broad.mit.edu	37	chr10	73405621	73405621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtttgaggtgtacttggtgGggaacaactcccaccacttc	8	12	11	10	0	0	1	0	1	0	0	2	2	1	2	2	4	3	2	2	4	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:73405621G>C	uc001jrx.4	+	11	1558	c.1168G>C	c.(1168-1170)Ggg>Cgg	p.G390R	CDH23_uc001jrw.4_Missense_Mutation_p.G390R|CDH23_uc001jry.3_Missense_Mutation_p.G390R|CDH23_uc001jrz.3_Missense_Mutation_p.G390R|CDH23_uc021psl.1_Missense_Mutation_p.G392R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	392	Cadherin 4.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTACTTGGTGGGGAACAACTC	0.572													C	73405621	G	C	73405621	3	2	153	1	0	0	0	0	1	0	0	0	3138	1232	43	4	1303	4	CDH23	10	73405621	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	27469543	73405621	62129126	89	10479											
SYNPO2L	79933	broad.mit.edu	37	chr10	75407262	75407262	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggagtcttaggagtcatAgggggcggggtcttgggagc	6	9	21	5	1	3	0	1	0	2	0	3	3	3	3	0	8	1	0	0	8	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:75407262A>G	uc001jut.4	-	3	2300	c.2148T>C	c.(2146-2148)ccT>ccC	p.P716P	SYNPO2L_uc001jus.4_Silent_p.P492P	NM_001114133	NP_001107605	Q9H987	SYP2L_HUMAN	Homo sapiens synaptopodin 2-like (SYNPO2L), transcript variant 1, mRNA.	716	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TAGGAGTCATAGGGGGCGGGG	0.617													G	75407262	A	G	75407262	2	3	153	1	0	0	0	0	0	0	0	1	15555	407	15	3		3	SYNPO2L	10	75407262	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	2001641	75407262	60127485	90	10480											
ZMIZ1	57178	broad.mit.edu	37	chr10	81061939	81061939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggactcctcaagaagcgcCtcctgcccgcagagcactgt	10	6	10	15	2	1	2	1	0	0	2	3	3	3	3	4	1	3	2	4	1	3	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:81061939C>T	uc001kaf.2	+	17	2667	c.2095C>T	c.(2095-2097)Ctc>Ttc	p.L699F	ZMIZ1_uc001kag.2_Missense_Mutation_p.L575F	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	699					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CAAGAAGCGCCTCCTGCCCGC	0.627													T	81061939	C	T	81061939	3	4	153	1	0	0	0	0	1	0	0	0	17797	681	24	2	2149	2	ZMIZ1	10	81061939	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	5654677	81061939	54472808	91	10481											
RPP30	10556	broad.mit.edu	37	chr10	92660375	92660375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctacagtgaagaaacctcGgccatcagaaggagatgaag	15	6	11	9	1	2	5	1	2	1	3	3	6	2	5	2	2	2	0	2	2	5	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:92660375G>A	uc001khd.2	+	10	1016	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	RPP30_uc009xtx.3_Missense_Mutation_p.R249Q	NM_001104546	NP_001098016	P78346	RPP30_HUMAN	Homo sapiens ribonuclease P/MRP 30kDa subunit (RPP30), transcript variant 1, mRNA.	249					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.R249R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						AAGAAACCTCGGCCATCAGAA	0.423													A	92660375	G	A	92660375	3	1	153	1	0	0	0	0	1	0	0	0	13703	1116	39	1	788	1	RPP30	10	92660375	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	11598436	92660375	42874372	92	10482											
PDLIM1	9124	broad.mit.edu	37	chr10	96998437	96998437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaatcctgagggcttgttggGatcccctgaaatgaggaaaa	12	9	13	7	0	0	3	0	3	0	0	2	6	2	5	3	3	0	2	3	3	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:96998437G>C	uc001kkh.3	-	5	800	c.691C>G	c.(691-693)Ccc>Gcc	p.P231A		NM_020992	NP_066272	O00151	PDLI1_HUMAN	Homo sapiens PDZ and LIM domain 1 (PDLIM1), mRNA.	231					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGCTTGTTGGGATCCCCTGAA	0.443													C	96998437	G	C	96998437	3	2	153	1	0	0	0	0	1	0	0	0	11755	1174	41	4	306	4	PDLIM1	10	96998437	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4338062	96998437	38536310	93	10483											
DMBT1	1755	broad.mit.edu	37	chr10	124358594	124358594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtggccatagtgaagaCgctggtgtcatctgctcagg	9	10	13	9	1	3	2	2	1	1	1	3	2	3	2	1	3	2	2	1	3	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124358594C>T	uc001lgk.1	+	25	3367	c.3261C>T	c.(3259-3261)gaC>gaT	p.D1087D	DMBT1_uc001lgl.1_Silent_p.D1077D|DMBT1_uc001lgm.1_Silent_p.D588D|DMBT1_uc021qaf.1_Silent_p.D1087D|DMBT1_uc021qag.1_Silent_p.D1077D|DMBT1_uc021qah.1_Silent_p.D588D|DMBT1_uc009xzz.1_Silent_p.D1087D|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yab.1_Silent_p.D48D	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1087	SRCR 8.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D1087D(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATAGTGAAGACGCTGGTGTCA	0.532													T	124358594	C	T	124358594	2	4	153	1	0	0	0	0	0	0	0	1	4616	535	19	1		1	DMBT1	10	124358594	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	27360157	124358594	11176153	94	10484											
DMBT1	1755	broad.mit.edu	37	chr10	124390740	124390740	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctggcagtgccggaacCgaggctggttctcccacaac	7	8	11	15	2	2	0	0	0	2	0	4	2	2	1	3	4	3	3	3	4	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:124390740C>T	uc001lgk.1	+	45	6008	c.5902C>T	c.(5902-5904)Cga>Tga	p.R1968*	DMBT1_uc001lgl.1_Nonsense_Mutation_p.R1958*|DMBT1_uc001lgm.1_Nonsense_Mutation_p.R1340*|DMBT1_uc021qaf.1_Nonsense_Mutation_p.R1968*|DMBT1_uc021qag.1_Nonsense_Mutation_p.R1958*|DMBT1_uc021qah.1_Nonsense_Mutation_p.R1340*|DMBT1_uc009xzz.1_Nonsense_Mutation_p.R1968*|DMBT1_uc010qtx.1_Nonsense_Mutation_p.R688*|DMBT1_uc009yab.1_Nonsense_Mutation_p.R671*|DMBT1_uc009yac.1_Nonsense_Mutation_p.R262*	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1968	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.R1968L(1)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTGCCGGAACCGAGGCTGGTT	0.542													T	124390740	C	T	124390740	4	4	153	1	0	0	0	0	0	1	0	0	4616	644	23	1	6084	1	DMBT1	10	124390740	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	32146	124390740	11144007	95	10485											
DOCK1	1793	broad.mit.edu	37	chr10	128830507	128830507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcaagagcatgcagaGccttgggagctgcaccatta	11	6	12	12	1	0	2	0	0	0	2	0	3	0	3	3	2	5	5	3	2	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr10:128830507G>A	uc010qun.2	+	17	1899	c.1835G>A	c.(1834-1836)aGc>aAc	p.S612N	DOCK1_uc001ljt.3_Missense_Mutation_p.S591N	NM_001380	NP_001371	Q14185	DOCK1_HUMAN	Homo sapiens dedicator of cytokinesis 1 (DOCK1), mRNA.	591	DHR-1.				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		AGCATGCAGAGCCTTGGGAGC	0.562													A	128830507	G	A	128830507	3	1	153	1	0	0	0	0	1	0	0	0	4723	971	34	2	1842	2	DOCK1	10	128830507	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4439767	128830507	6704240	96	10486											
ART5	116969	broad.mit.edu	37	chr11	3660908	3660908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttaaaatggctacaggtctGattatagctccagagagtca	13	11	10	7	0	2	2	1	1	1	1	3	3	3	2	1	2	2	3	1	2	5	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:3660908G>C	uc001lyb.1	-	1	1144	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ART5_uc001lyc.1_Missense_Mutation_p.Q251E|ART5_uc001lyd.3_Intron|ART5_uc009yea.3_Intron	NM_053017	NP_443750	Q96L15	NAR5_HUMAN	Homo sapiens ADP-ribosyltransferase 5 (ART5), transcript variant 1, mRNA.	251						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTACAGGTCTGATTATAGCTC	0.522													C	3660908	G	C	3660908	3	2	153	1	0	0	0	0	1	0	0	0	1005	1299	45	4	136	4	ART5	11	3660908	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		3660908	131345608	97	10487											
HBE1	3046	broad.mit.edu	37	chr11	5290821	5290821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccatgggccttgacctTggggttgcccaggatggcag	5	10	15	11	0	0	1	0	1	0	0	0	2	0	2	4	5	2	2	4	5	0	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:5290821T>C	uc001mal.1	-	1	444	c.178A>G	c.(178-180)Aag>Gag	p.K60E	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Missense_Mutation_p.K60E	NM_005330	NP_005321	P02100	HBE_HUMAN	Homo sapiens hemoglobin, epsilon 1 (HBE1), mRNA.	60					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTGACCTTGGGGTTGCCC	0.507													C	5290821	T	C	5290821	3	2	153	1	0	0	0	0	1	0	0	0	7035	1821	63	3	273	3	HBE1	11	5290821	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1629913	5290821	129715695	98	10488											
OR52L1	338751	broad.mit.edu	37	chr11	6008078	6008078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctaccaggagaaaagaaGgctgggatagcctccagctt	12	7	11	11	0	0	2	0	0	0	2	2	4	2	3	4	3	3	2	4	3	5	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:6008078G>A	uc001mcd.2	-	0	138	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_001005173	NP_001005173	Q8NGH7	O52L1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily L, member 1 (OR52L1), mRNA.	28					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q27Q(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAGAAAAGAAGGCTGGGATAG	0.468													A	6008078	G	A	6008078	3	1	153	1	0	0	0	0	1	0	0	0	11201	1000	35	2	910	2	OR52L1	11	6008078	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	717257	6008078	128998438	99	10489											
SLC1A2	6506	broad.mit.edu	37	chr11	35313908	35313908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaaggggtttttcctggtCactacaaagtaaatcaaggg	13	10	12	6	0	2	1	2	0	0	1	3	2	3	1	1	4	1	2	1	4	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:35313908C>T	uc001mwd.3	-	6	1609	c.1017G>A	c.(1015-1017)gtG>gtA	p.V339V	SLC1A2_uc021qfx.1_Silent_p.V330V|SLC1A2_uc001mwe.3_Silent_p.V330V|SLC1A2_uc010rev.1_Silent_p.V339V	NM_004171	NP_001239581	P43004	EAA2_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 2 (SLC1A2), transcript variant 1, mRNA.	339					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V339G(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TTTTCCTGGTCACTACAAAGT	0.478													T	35313908	C	T	35313908	2	4	153	1	0	0	0	0	0	0	0	1	14526	813	29	2		2	SLC1A2	11	35313908	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	29305830	35313908	99692608	100	10490											
CREB3L1	90993	broad.mit.edu	37	chr11	46321656	46321656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacagctactccctgagCggcgactcagcgccccagag	9	4	12	16	3	1	2	1	1	0	1	2	4	2	2	3	1	5	2	3	1	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46321656C>T	uc021qil.1	+	1	708	c.273C>T	c.(271-273)agC>agT	p.S91S	CREB3L1_uc021qik.1_Silent_p.S91S	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	91					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		ACTCCCTGAGCGGCGACTCAG	0.607			T	FUS	myxofibrosarcoma								T	46321656	C	T	46321656	2	4	153	1	0	0	0	0	0	0	0	1	3887	767	27	1		1	CREB3L1	11	46321656	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	11007748	46321656	88684860	101	10491											
LRP4	4038	broad.mit.edu	37	chr11	46916320	46916320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactcagagcggtgtggcaGcacctgccggatgtcgatgc	7	8	15	11	3	1	1	1	0	0	1	2	3	1	2	2	3	5	3	2	3	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:46916320G>A	uc001ndn.4	-	11	1603	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	454					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CGGTGTGGCAGCACCTGCCGG	0.567													A	46916320	G	A	46916320	2	1	153	1	0	0	0	0	0	0	0	1	9029	962	34	2		2	LRP4	11	46916320	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	594664	46916320	88090196	102	10492											
OR5D14	219436	broad.mit.edu	37	chr11	55563704	55563704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctatgttttcatttttGtgactgtactaaaaatccgt	9	19	5	8	1	1	1	1	1	0	0	3	1	3	1	2	0	1	2	2	0	5	8			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:55563704G>C	uc010rim.2	+	0	673	c.673G>C	c.(673-675)Gtg>Ctg	p.V225L		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTTCATTTTTGTGACTGTACT	0.478													C	55563704	G	C	55563704	3	2	153	1	0	0	0	0	1	0	0	0	11231	1377	48	4	675	4	OR5D14	11	55563704	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	8647384	55563704	79442812	103	10493											
OR6Q1	219952	broad.mit.edu	37	chr11	57798590	57798590	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggtgggtttggaccacCgactacggagacccatgtat	9	10	13	9	2	0	1	0	0	0	1	0	4	0	2	3	4	1	2	3	4	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:57798590C>T	uc010rjz.2	+	0	166	c.166C>T	c.(166-168)Cga>Tga	p.R56*	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TTTGGACCACCGACTACGGAG	0.478													T	57798590	C	T	57798590	4	4	153	1	0	0	0	0	0	1	0	0	11284	644	23	1	168	1	OR6Q1	11	57798590	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	2234886	57798590	77207926	104	10494											
PLAC1L	219990	broad.mit.edu	37	chr11	59812205	59812205	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccccaaggaatatagAtcatgaccctcaggaaatcc	14	9	6	12	0	2	2	2	1	0	1	3	4	3	4	4	2	1	0	4	2	6	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:59812205A>T	uc001nol.3	+	2	490	c.305A>T	c.(304-306)gAt>gTt	p.D102V		NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.	102						extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						AGGAATATAGATCATGACCCT	0.408													T	59812205	A	T	59812205	3	4	153	1	0	0	0	0	1	0	0	0	12090	333	12	5	315	5	PLAC1L	11	59812205	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	2013615	59812205	75194311	105	10495											
AHNAK	79026	broad.mit.edu	37	chr11	62299512	62299512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctggttcctcaatgcTcacatcaggagcagtaacat	10	11	7	13	0	4	0	3	0	1	0	5	1	5	1	2	2	3	4	2	2	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:62299512T>A	uc001ntl.3	-	4	2677	c.2377A>T	c.(2377-2379)Agc>Tgc	p.S793C	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	793					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCCTCAATGCTCACATCAGGA	0.502													A	62299512	T	A	62299512	3	1	153	1	0	0	0	0	1	0	0	0	414	1551	54	5	15415	5	AHNAK	11	62299512	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	2487307	62299512	72707004	106	10496											
DPP3	10072	broad.mit.edu	37	chr11	66252660	66252660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggcgttcctggtctatgCcgcgggtgtttactccaaca	6	12	11	12	3	2	0	1	0	1	0	4	0	4	0	3	3	3	2	3	3	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:66252660C>T	uc001oig.1	+	2	349	c.287C>T	c.(286-288)gCc>gTc	p.A96V	DPP3_uc001oif.1_Missense_Mutation_p.A96V|DPP3_uc010rpe.1_Intron	NM_005700	NP_569710	Q9NY33	DPP3_HUMAN	Homo sapiens dipeptidyl-peptidase 3 (DPP3), transcript variant 1, mRNA.	96					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGGTCTATGCCGCGGGTGTT	0.592													T	66252660	C	T	66252660	3	4	153	1	0	0	0	0	1	0	0	0	4767	739	26	2	293	2	DPP3	11	66252660	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	3953148	66252660	68753856	107	10497											
MMP7	4316	broad.mit.edu	37	chr11	102395756	102395756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaaaggcatgagccagcGtgtttcctggcccatcaaat	10	8	11	12	2	1	1	1	1	0	0	2	1	2	1	3	2	2	3	3	2	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:102395756G>A	uc001phb.3	-	3	571	c.524C>T	c.(523-525)aCg>aTg	p.T175M	MMP7_uc009yxd.3_Missense_Mutation_p.T175M	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	175					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATGAGCCAGCGTGTTTCCTGG	0.478													A	102395756	G	A	102395756	3	1	153	1	0	0	0	0	1	0	0	0	9743	1145	40	1	291	1	MMP7	11	102395756	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	36143096	102395756	32610760	108	10498											
PPP2R1B	5519	broad.mit.edu	37	chr11	111631562	111631562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgatttctgctttaaCagcatttgatgccctgggat	7	16	9	9	0	2	2	0	2	2	0	2	3	2	3	1	1	4	2	1	1	1	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:111631562C>G	uc001plw.1	-	3	604	c.520G>C	c.(520-522)Gtt>Ctt	p.V174L	PPP2R1B_uc010rwi.1_Missense_Mutation_p.V110L|PPP2R1B_uc001plx.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwk.1_Missense_Mutation_p.V174L|PPP2R1B_uc010rwl.1_Intron|PPP2R1B_uc010rwj.1_Intron	NM_181699	NP_859050	P30154	2AAB_HUMAN	Homo sapiens protein phosphatase 2, regulatory subunit A, beta (PPP2R1B), transcript variant 2, mRNA.	174							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		TCTGCTTTAACAGCATTTGAT	0.438													G	111631562	C	G	111631562	3	3	153	1	0	0	0	0	1	0	0	0	12465	478	17	4	1556	4	PPP2R1B	11	111631562	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	9235806	111631562	23374954	109	10499											
OR8D1	283159	broad.mit.edu	37	chr11	124180313	124180313	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catagcgatcatatgccatgGcagtcaggaggtaaccctca	12	8	10	11	1	3	0	3	0	0	0	3	2	3	1	2	3	3	2	2	3	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124180313G>C	uc010sag.2	-	0	350	c.350C>G	c.(349-351)gCc>gGc	p.A117G		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		ATATGCCATGGCAGTCAGGAG	0.478													C	124180313	G	C	124180313	3	2	153	1	0	0	0	0	1	0	0	0	11307	1203	42	4	579	4	OR8D1	11	124180313	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	12548751	124180313	10826203	110	10500											
CCDC15	80071	broad.mit.edu	37	chr11	124910501	124910501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagcatatactcgggcacTacattcattcatcaattcct	11	13	5	12	1	3	0	3	0	0	0	5	0	4	0	1	1	4	3	1	1	4	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr11:124910501T>C	uc001qbm.4	+	15	3009	c.2750T>C	c.(2749-2751)cTa>cCa	p.L917P		NM_025004	NP_079280	Q0P6D6	CCD15_HUMAN	Homo sapiens coiled-coil domain containing 15 (CCDC15), mRNA.	917						centrosome				central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(1)	23	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.68e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0413)		ACTCGGGCACTACATTCATTC	0.393													C	124910501	T	C	124910501	3	2	153	1	0	0	0	0	1	0	0	0	2810	1522	53	3	2808	3	CCDC15	11	124910501	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	730188	124910501	10096015	111	10501											
VWF	7450	broad.mit.edu	37	chr12	6153612	6153612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccgacaggataggctccTtttgcctcgaaggtaggaaa	10	8	14	9	2	0	0	0	0	0	0	2	4	1	2	3	5	1	2	3	5	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:6153612T>C	uc001qnn.1	-	17	2537	c.2287A>G	c.(2287-2289)Agg>Ggg	p.R763G	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	763					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GATAGGCTCCTTTTGCCTCGA	0.522													C	6153612	T	C	6153612	3	2	153	1	0	0	0	0	1	0	0	0	17348	1608	56	3	6294	3	VWF	12	6153612	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08		6153612	127698283	112	10502											
A2M	2	broad.mit.edu	37	chr12	9251275	9251275	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcacggagggcgcagacGgactgaggagccgctgtgac	10	3	17	11	4	0	3	0	2	0	1	0	6	0	6	1	4	2	3	1	4	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:9251275G>C	uc001qvk.1	-	14	1892	c.1779C>G	c.(1777-1779)tcC>tcG	p.S593S	A2M_uc009zgk.1_Silent_p.S443S	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	593					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGGCGCAGACGGACTGAGGAG	0.582													C	9251275	G	C	9251275	2	2	153	1	0	0	0	0	0	0	0	1	4	1103	39	4		4	A2M	12	9251275	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3097663	9251275	124600620	113	10503											
MLL2	8085	broad.mit.edu	37	chr12	49416568	49416568	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgagatgacttggagtgCacaaactgcttgctgtaggg	10	11	13	7	0	0	2	0	2	0	1	0	4	0	3	0	2	5	4	0	2	3	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:49416568C>A	uc001rta.4	-	50	16143	c.16143G>T	c.(16141-16143)gtG>gtT	p.V5381V		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	5381					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						ACTTGGAGTGCACAAACTGCT	0.587			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	49416568	C	A	49416568	2	1	153	1	0	0	0	0	0	0	0	1	9696	697	25	4		4	MLL2	12	49416568	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	40165293	49416568	84435327	114	10504											
KRT84	3890	broad.mit.edu	37	chr12	52771859	52771859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggtggacacaaagcGgacgctggagctgcggccgc	7	5	19	10	4	0	0	0	0	0	0	0	3	0	3	1	7	3	2	1	7	1	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52771859G>A	uc001sah.1	-	8	1810	c.1762C>T	c.(1762-1764)Cgc>Tgc	p.R588C		NM_033045	NP_149034	Q9NSB2	KRT84_HUMAN	Homo sapiens keratin 84 (KRT84), mRNA.	588	Tail.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GACACAAAGCGGACGCTGGAG	0.677													A	52771859	G	A	52771859	3	1	153	1	0	0	0	0	1	0	0	0	8556	1116	39	1	44	1	KRT84	12	52771859	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3355291	52771859	81080036	115	10505											
KRT74	121391	broad.mit.edu	37	chr12	52960950	52960950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgctactgctgatgaCagctgaggaggaggggccaa	10	7	16	8	0	0	3	0	3	0	0	0	5	0	5	1	4	5	5	1	4	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:52960950C>T	uc001sap.1	-	8	1441	c.1393G>A	c.(1393-1395)Gtc>Atc	p.V465I		NM_175053	NP_778223	Q7RTS7	K2C74_HUMAN	Homo sapiens keratin 74 (KRT74), mRNA.	465	Tail.					keratin filament	structural molecule activity			kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	28				BRCA - Breast invasive adenocarcinoma(357;0.191)		CTGCTGATGACAGCTGAGGAG	0.607													T	52960950	C	T	52960950	3	4	153	1	0	0	0	0	1	0	0	0	8545	478	17	2	200	2	KRT74	12	52960950	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	189091	52960950	80890945	116	10506											
ZBTB39	9880	broad.mit.edu	37	chr12	57397937	57397937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggaagctgtttttactGaagtctccattgctttgaac	9	15	10	7	0	1	3	0	3	1	0	2	4	1	4	1	1	4	3	1	1	4	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:57397937G>T	uc001sml.2	-	1	918	c.765C>A	c.(763-765)ttC>ttA	p.F255L	ZBTB39_uc021qzg.1_Missense_Mutation_p.F255L	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGTTTTTACTGAAGTCTCCAT	0.517													T	57397937	G	T	57397937	3	4	153	1	0	0	0	0	1	0	0	0	17641	1281	45	4	1377	4	ZBTB39	12	57397937	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	4436987	57397937	76453958	117	10507											
OS9	10956	broad.mit.edu	37	chr12	58112083	58112083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagatgaggatgaacGgcagttactgggagaatttg	13	9	16	3	1	0	5	0	3	0	2	0	8	0	7	0	4	2	2	0	4	4	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:58112083G>A	uc001spj.3	+	10	1496	c.1289G>A	c.(1288-1290)cGg>cAg	p.R430Q	OS9_uc010srx.2_Missense_Mutation_p.R224Q|OS9_uc001spk.3_Missense_Mutation_p.R430Q|OS9_uc001spl.3_Missense_Mutation_p.R430Q|OS9_uc001spm.3_Missense_Mutation_p.R430Q|OS9_uc001spn.3_Missense_Mutation_p.R431Q|OS9_uc010sry.2_Missense_Mutation_p.R398Q|OS9_uc010srz.2_Missense_Mutation_p.R371Q	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	430					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding	p.R430Q(2)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			gaggatgaACGGCAGTTACTG	0.547													A	58112083	G	A	58112083	3	1	153	1	0	0	0	0	1	0	0	0	11348	1116	39	1	1331	1	OS9	12	58112083	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	714146	58112083	75739812	118	10508											
PAH	5053	broad.mit.edu	37	chr12	103246597	103246597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggacagtactcacggttCgggggtatacatgggcttgg	8	9	17	7	2	1	0	1	0	0	0	2	2	1	2	0	7	2	4	0	7	3	5	rs62508698		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:103246597C>T	uc001tjq.1	-	6	1311	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K		NM_000277	NP_000268	P00439	PH4H_HUMAN	Homo sapiens phenylalanine hydroxylase (PAH), mRNA.	280			E -> K (in PKU; haplotypes 1,2,4,16,38; partial residual activity).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity	p.P279L(1)		endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACTCACGGTTCGGGGGTATAC	0.547													T	103246597	C	T	103246597	3	4	153	1	0	0	0	0	1	0	0	0	11470	893	31	1	548	1	PAH	12	103246597	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	45134514	103246597	30605298	119	10509											
TCTN2	79867	broad.mit.edu	37	chr12	124156084	124156084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttttatccgaatgtccgGccctgcggtcagcgcgtccc	4	11	10	16	5	1	0	1	0	0	0	5	1	5	0	5	2	2	0	5	2	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr12:124156084G>A	uc001ufp.3	+	1	241	c.113G>A	c.(112-114)gGc>gAc	p.G38D	TCTN2_uc009zya.3_Missense_Mutation_p.G38D	NM_024809	NP_079085	Q96GX1	TECT2_HUMAN	Homo sapiens tectonic family member 2 (TCTN2), transcript variant 1, mRNA.	38					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGAATGTCCGGCCCTGCGGTC	0.617													A	124156084	G	A	124156084	3	1	153	1	0	0	0	0	1	0	0	0	15823	1203	42	2	119	2	TCTN2	12	124156084	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	20909487	124156084	9695811	120	10510											
RNF17	56163	broad.mit.edu	37	chr13	25363875	25363875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatcatctgtatgttcaaCaatatgggaaagattgaatt	15	13	9	4	0	3	3	2	1	1	2	3	5	3	4	0	1	1	2	0	1	6	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:25363875C>A	uc001upr.3	+	8	941	c.900C>A	c.(898-900)aaC>aaA	p.N300K	RNF17_uc010tdd.1_Missense_Mutation_p.N159K|RNF17_uc010tde.2_Missense_Mutation_p.N300K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N239K|RNF17_uc001upq.1_Missense_Mutation_p.N300K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	300					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		GTATGTTCAACAATATGGGAA	0.308													A	25363875	C	A	25363875	3	1	153	1	0	0	0	0	1	0	0	0	13552	477	17	4	934	4	RNF17	13	25363875	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		25363875	89806003	121	10511											
BRCA2	675	broad.mit.edu	37	chr13	32903619	32903619	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactgtatttcctcatgAtactactgctgtaagtaaat	13	15	6	7	0	1	2	1	2	0	0	2	2	2	2	1	0	4	4	1	0	7	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:32903619A>T	uc001uub.1	+	7	898	c.671A>T	c.(670-672)gAt>gTt	p.D224V	BRCA2_uc001uua.1_Missense_Mutation_p.D101V	NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	224					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTTCCTCATGATACTACTGCT	0.259			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			T	32903619	A	T	32903619	3	4	153	1	0	0	0	0	1	0	0	0	1508	333	12	5	697	5	BRCA2	13	32903619	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	7539744	32903619	82266259	122	10512											
TUBGCP3	10426	broad.mit.edu	37	chr13	113181294	113181294	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttggtcacagctatcAtctttgtagtgggagtctga	9	13	11	8	0	4	2	2	1	2	1	4	3	4	3	0	2	1	2	0	2	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr13:113181294A>T	uc001vse.1	-	12	1704	c.1517T>A	c.(1516-1518)aTg>aAg	p.M506K	TUBGCP3_uc010tjq.1_Missense_Mutation_p.M496K|TUBGCP3_uc001vsf.3_Missense_Mutation_p.M506K	NM_006322	NP_006313	Q96CW5	GCP3_HUMAN	Homo sapiens tubulin, gamma complex associated protein 3 (TUBGCP3), mRNA.	506					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACAGCTATCATCTTTGTAGT	0.413													T	113181294	A	T	113181294	3	4	153	1	0	0	0	0	1	0	0	0	16869	217	8	5	1246	5	TUBGCP3	13	113181294	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	80277675	113181294	1988584	123	10513											
TGM1	7051	broad.mit.edu	37	chr14	24729739	24729739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagcgtctgattgtgtgCggactgtgaactgaaacttg	8	11	12	10	2	1	3	0	3	1	0	1	4	1	4	2	1	4	0	2	1	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24729739C>T	uc001wod.3	-	3	798	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	225			R -> H (in ARCI-TGM1).|R -> P (in ARCI-TGM1).		cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	TGATTGTGTGCGGACTGTGAA	0.587													T	24729739	C	T	24729739	3	4	153	1	0	0	0	0	1	0	0	0	15929	768	27	1	1827	1	TGM1	14	24729739	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		24729739	82619801	124	10514											
NYNRIN	57523	broad.mit.edu	37	chr14	24886187	24886187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcctccctgcctttgctGcacctggccttcagggcctc	2	10	11	18	1	1	0	1	0	0	0	3	0	2	0	6	3	3	2	6	3	0	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:24886187G>A	uc001wpf.4	+	8	5550	c.5232G>A	c.(5230-5232)ctG>ctA	p.L1744L		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	1744	Integrase catalytic.				DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TGCCTTTGCTGCACCTGGCCT	0.622													A	24886187	G	A	24886187	2	1	153	1	0	0	0	0	0	0	0	1	10872	1306	46	2		2	NYNRIN	14	24886187	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	156448	24886187	82463353	125	10515											
FOXA1	3169	broad.mit.edu	37	chr14	38061688	38061688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtacccatggccgtcaCgccggccgcagtcatgctgt	5	7	12	17	6	2	0	2	0	0	0	2	0	2	0	5	2	2	3	5	2	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:38061688C>T	uc001wuf.3	-	1	613	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	FOXA1_uc010tpz.2_Missense_Mutation_p.V68M	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	101					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ATGGCCGTCACGCCGGCCGCA	0.741													T	38061688	C	T	38061688	3	4	153	1	0	0	0	0	1	0	0	0	6038	536	19	1	1121	1	FOXA1	14	38061688	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	13175501	38061688	69287852	126	10516											
PPM1A	5494	broad.mit.edu	37	chr14	60749967	60749967	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatgcaggtggctctgtAatgattcagcgtgtgaatgg	10	11	14	6	1	2	3	1	2	1	1	2	3	2	3	0	3	2	3	0	3	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:60749967A>G	uc001xew.4	+	1	861	c.765A>G	c.(763-765)gtA>gtG	p.V255V	PPM1A_uc010apn.3_Silent_p.V182V|PPM1A_uc001xex.4_Silent_p.V182V|PPM1A_uc001xey.4_Silent_p.V182V	NM_177952	NP_808821	P35813	PPM1A_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1A (PPM1A), transcript variant 3, mRNA.	182					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GTGGCTCTGTAATGATTCAGC	0.443													G	60749967	A	G	60749967	2	3	153	1	0	0	0	0	0	0	0	1	12417	349	13	3		3	PPM1A	14	60749967	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	22688279	60749967	46599573	127	10517											
AHNAK2	113146	broad.mit.edu	37	chr14	105409035	105409035	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgacgggggtcatcacAtccgccttggggcctttcag	6	9	12	14	3	3	0	3	0	0	0	5	1	5	0	4	4	0	0	4	4	0	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr14:105409035A>G	uc010axc.1	-	6	12873	c.12753T>C	c.(12751-12753)gaT>gaC	p.D4251D	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.D4151D	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	4251						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGTCATCACATCCGCCTTGG	0.642													G	105409035	A	G	105409035	2	3	153	1	0	0	0	0	0	0	0	1	415	214	8	3		3	AHNAK2	14	105409035	Silent	SNP	A	TCGA-19-1790-01B-01D-1353-08	44659068	105409035	1940505	128	10518											
GABRB3	2562	broad.mit.edu	37	chr15	26866466	26866466	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaggcacacagacctgagCccatacagcactgtcccatc	13	5	8	15	0	0	3	0	1	0	2	2	3	1	3	3	1	3	2	3	1	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:26866466C>G	uc001zbb.3	-	4	727	c.624G>C	c.(622-624)ggG>ggC	p.G208G	GABRB3_uc021sgg.1_Silent_p.G81G|GABRB3_uc021sgh.1_Silent_p.G67G|GABRB3_uc001zaz.3_Silent_p.G152G|GABRB3_uc001zba.3_Silent_p.G152G|GABRB3_uc001zbc.3_Non-coding_Transcript	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	152					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G152G(2)|p.G208G(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGACCTGAGCCCATACAGCA	0.448													G	26866466	C	G	26866466	2	3	153	1	0	0	0	0	0	0	0	1	6220	726	26	4		4	GABRB3	15	26866466	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08		26866466	75664926	129	10519											
TCF12	6938	broad.mit.edu	37	chr15	57543615	57543615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatgaaaactcactccaCtccctggtaagagcctctta	12	10	6	13	0	2	2	1	1	1	1	4	2	4	2	3	1	3	2	3	1	5	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:57543615C>G	uc002aec.3	+	13	1466	c.1182C>G	c.(1180-1182)caC>caG	p.H394Q	TCF12_uc010ugm.1_Missense_Mutation_p.H446Q|TCF12_uc010ugn.1_Missense_Mutation_p.H390Q|TCF12_uc002aea.3_Missense_Mutation_p.H394Q|TCF12_uc010bfs.3_Intron|TCF12_uc002aeb.3_Missense_Mutation_p.H394Q|TCF12_uc002aed.3_Missense_Mutation_p.H394Q|TCF12_uc010ugo.2_Missense_Mutation_p.H158Q|TCF12_uc002aee.3_Missense_Mutation_p.H224Q|TCF12_uc010bft.3_Missense_Mutation_p.H224Q|TCF12_uc010ugp.2_Missense_Mutation_p.H28Q|TCF12_uc010ugq.2_Missense_Mutation_p.H28Q|TCF12_uc010ugr.1_5'Flank	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	394					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTCACTCCACTCCCTGGTAA	0.448			T	TEC	extraskeletal myxoid chondrosarcoma								G	57543615	C	G	57543615	3	3	153	1	0	0	0	0	1	0	0	0	15787	564	20	4	1305	4	TCF12	15	57543615	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	30677149	57543615	44987777	130	10520											
AQP9	366	broad.mit.edu	37	chr15	58476317	58476317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaaccagagaaatatgaaCtcagtgtcatcatgtagtgg	16	9	9	7	0	3	2	3	1	0	1	3	3	3	2	1	1	2	1	1	1	5	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:58476317C>T	uc002aez.2	+	5	1228	c.871C>T	c.(871-873)Ctc>Ttc	p.L291F	ALDH1A2_uc010ugw.2_Intron|AQP9_uc010ugx.1_Missense_Mutation_p.L226F	NM_020980	NP_066190	O43315	AQP9_HUMAN	Homo sapiens aquaporin 9 (AQP9), mRNA.	291					cellular response to cAMP|excretion|immune response|metabolic process|response to mercury ion|response to osmotic stress|water homeostasis	integral to plasma membrane|intracellular membrane-bounded organelle	amine transmembrane transporter activity|carboxylic acid transmembrane transporter activity|glycerol channel activity|porin activity|purine base transmembrane transporter activity|pyrimidine base transmembrane transporter activity|water channel activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)	21				GBM - Glioblastoma multiforme(80;0.16)		GAAATATGAACTCAGTGTCAT	0.438													T	58476317	C	T	58476317	3	4	153	1	0	0	0	0	1	0	0	0	836	565	20	2	893	2	AQP9	15	58476317	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	932702	58476317	44055075	131	10521											
BNC1	646	broad.mit.edu	37	chr15	83933192	83933192	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttggggtcctgactttggtCatgaccctgctccaacatat	7	14	9	11	0	1	2	1	2	0	0	3	2	3	2	3	3	2	1	3	3	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:83933192C>G	uc002bjt.1	-	3	899	c.811G>C	c.(811-813)Gac>Cac	p.D271H	BNC1_uc010uos.1_Missense_Mutation_p.D259H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	271					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						TGACTTTGGTCATGACCCTGC	0.488													G	83933192	C	G	83933192	3	3	153	1	0	0	0	0	1	0	0	0	1480	826	29	4	2181	4	BNC1	15	83933192	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	25456875	83933192	18598200	132	10522											
CHSY1	22856	broad.mit.edu	37	chr15	101775678	101775678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttcttctggggcgggtagGagtcgtccacaccccgtagt	6	10	13	12	3	2	0	0	0	2	0	4	1	3	1	3	4	0	2	3	4	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr15:101775678G>T	uc021sxt.1	-	1	901	c.425C>A	c.(424-426)tCc>tAc	p.S142Y		NM_014918	NP_055733	Q86X52	CHSS1_HUMAN	Homo sapiens chondroitin sulfate synthase 1 (CHSY1), mRNA.	142					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GGGCGGGTAGGAGTCGTCCAC	0.483													T	101775678	G	T	101775678	3	4	153	1	0	0	0	0	1	0	0	0	3442	1174	41	4	1991	4	CHSY1	15	101775678	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	17842486	101775678	755714	133	10523											
PTX4	390667	broad.mit.edu	37	chr16	1537375	1537375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttttggggcagtcccActgagtacccgatggctgcc	5	10	14	12	1	1	1	0	1	1	0	2	2	2	1	3	4	2	3	3	4	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:1537375A>T	uc010uvf.2	-	1	723	c.723T>A	c.(721-723)agT>agA	p.S241R		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	246						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GGGCAGTCCCACTGAGTACCC	0.677													T	1537375	A	T	1537375	3	4	153	1	0	0	0	0	1	0	0	0	12911	156	6	5	705	5	PTX4	16	1537375	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08		1537375	88817378	134	10524											
PKD1	5310	broad.mit.edu	37	chr16	2160687	2160687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggtagctggcggggCgcccacggcccacagcagag	8	2	15	16	3	0	1	0	0	0	1	0	1	0	1	3	5	2	3	3	5	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:2160687C>T	uc002cos.1	-	14	4690	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Missense_Mutation_p.R1494H	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	1494	PKD 10.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCTGGCGGGGCGCCCACGGCC	0.652													T	2160687	C	T	2160687	3	4	153	1	0	0	0	0	1	0	0	0	12040	768	27	1	8558	1	PKD1	16	2160687	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	623312	2160687	88194066	135	10525											
ADCY7	113	broad.mit.edu	37	chr16	50349362	50349362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggcaaaggcgagctgagGacttactttgtctgtacgga	12	9	13	7	2	1	1	0	1	1	0	1	4	1	3	0	4	3	3	0	4	4	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:50349362G>T	uc002egd.1	+	24	3457	c.3189G>T	c.(3187-3189)agG>agT	p.R1063S		NM_001114	NP_001105	P51828	ADCY7_HUMAN	Homo sapiens adenylate cyclase 7 (ADCY7), mRNA.	1063					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	GCGAGCTGAGGACTTACTTTG	0.572													T	50349362	G	T	50349362	3	4	153	1	0	0	0	0	1	0	0	0	299	1165	41	4	3287	4	ADCY7	16	50349362	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	48188675	50349362	40005391	136	10526											
E2F4	1874	broad.mit.edu	37	chr16	67226947	67226947	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaatacccgggagattgCtgacaaactgattgagctca	12	9	10	10	1	1	4	1	3	0	1	1	5	1	4	1	1	5	3	1	1	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr16:67226947C>G	uc002erz.3	+	2	344	c.281C>G	c.(280-282)gCt>gGt	p.A94G	EXOC3L1_uc002erv.1_5'Flank|EXOC3L1_uc002erw.1_5'Flank|EXOC3L1_uc002erx.1_5'Flank|EXOC3L1_uc010vje.1_5'Flank|EXOC3L1_uc002ery.1_5'Flank	NM_001950	NP_001941	Q16254	E2F4_HUMAN	Homo sapiens E2F transcription factor 4, p107/p130-binding (E2F4), mRNA.	94	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(4)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000697)|Epithelial(162;0.00303)|all cancers(182;0.0325)		CGGGAGATTGCTGACAAACTG	0.612													G	67226947	C	G	67226947	3	3	153	1	0	0	0	0	1	0	0	0	4908	797	28	4	291	4	E2F4	16	67226947	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	16877585	67226947	23127806	137	10527											
C17orf100	388327	broad.mit.edu	37	chr17	6555309	6555309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagagacgtccacggtcCgcgtggagacctcgtcccac	9	5	11	16	5	0	2	0	0	0	2	4	4	3	2	4	2	0	0	4	2	0	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:6555309C>A	uc010clp.1	+	0	251	c.76C>A	c.(76-78)Cgc>Agc	p.R26S	MED31_uc002gdg.4_5'Flank|MED31_uc002gdh.4_5'Flank	NM_001105520	NP_001098990	D3DTM5	D3DTM5_HUMAN	Homo sapiens chromosome 17 open reading frame 100 (C17orf100), mRNA.	26																	GTCCACGGTCCGCGTGGAGAC	0.736													A	6555309	C	A	6555309	3	1	153	1	0	0	0	0	1	0	0	0	1861	652	23	4	78	4	C17orf100	17	6555309	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		6555309	74639901	138	10528											
SLFN13	146857	broad.mit.edu	37	chr17	33771684	33771684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctcagttgtcaaggggCggatgtacttctccctcacc	7	12	9	13	1	4	0	3	0	1	0	6	1	5	1	3	3	1	2	3	3	2	4	rs148604980		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:33771684C>T	uc002hjk.1	-	0	1346	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	SLFN13_uc010wch.1_Missense_Mutation_p.R339H|SLFN13_uc002hjl.2_Missense_Mutation_p.R339H|SLFN13_uc002hjm.2_Missense_Mutation_p.R8H|SLFN13_uc010ctt.2_Missense_Mutation_p.R21H	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	339						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TGTCAAGGGGCGGATGTACTT	0.488													T	33771684	C	T	33771684	3	4	153	1	0	0	0	0	1	0	0	0	14830	768	27	1	1693	1	SLFN13	17	33771684	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	27216375	33771684	47423526	139	10529											
IKZF3	22806	broad.mit.edu	37	chr17	37985642	37985642	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgcacactacggctcacctCctatgtcttcatcttcattg	7	14	5	15	1	5	0	3	0	2	0	6	0	6	0	2	1	2	2	2	1	2	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:37985642C>G	uc002hsu.3	-	2	223	c.161G>C	c.(160-162)gGa>gCa	p.G54A	IKZF3_uc002htd.3_Intron|IKZF3_uc010cwd.3_Missense_Mutation_p.G54A|IKZF3_uc002hsv.3_Intron|IKZF3_uc010cwe.3_Missense_Mutation_p.G54A|IKZF3_uc010cwf.3_Missense_Mutation_p.G54A|IKZF3_uc010cwg.3_Missense_Mutation_p.G54A|IKZF3_uc002hsw.3_Missense_Mutation_p.G54A|IKZF3_uc002hsx.3_Missense_Mutation_p.G54A|IKZF3_uc002hsy.3_Missense_Mutation_p.G54A|IKZF3_uc002hsz.3_Missense_Mutation_p.G54A|IKZF3_uc002hta.3_Missense_Mutation_p.G54A|IKZF3_uc002htb.3_Non-coding_Transcript|IKZF3_uc010cwh.3_Missense_Mutation_p.G54A|IKZF3_uc002htc.3_5'UTR	NM_012481	NP_036613	Q9UKT9	IKZF3_HUMAN	Homo sapiens IKAROS family zinc finger 3 (Aiolos) (IKZF3), transcript variant 1, mRNA.	54					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			CGGCTCACCTCCTATGTCTTC	0.428													G	37985642	C	G	37985642	3	3	153	1	0	0	0	0	1	0	0	0	7674	855	30	4	1392	4	IKZF3	17	37985642	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4213958	37985642	43209568	140	10530											
NAGS	162417	broad.mit.edu	37	chr17	42085912	42085912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactcctatgagttggtcaaCcacgccaagggactgccaga	11	7	11	12	1	1	2	1	1	0	1	2	4	2	3	4	2	2	1	4	2	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:42085912C>A	uc010czn.3	+	6	1572	c.1572C>A	c.(1570-1572)aaC>aaA	p.N524K	NAGS_uc002ies.3_Missense_Mutation_p.N516K|NAGS_uc002iet.3_Missense_Mutation_p.N140K	NM_153006	NP_694551	Q8N159	NAGS_HUMAN	Homo sapiens N-acetylglutamate synthase (NAGS), mRNA.	516	N-acetyltransferase.				arginine biosynthetic process|urea cycle	mitochondrial matrix	acetyl-CoA:L-glutamate N-acetyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8		Breast(137;0.00536)|Prostate(33;0.0724)		BRCA - Breast invasive adenocarcinoma(366;0.113)	L-Glutamic Acid(DB00142)	AGTTGGTCAACCACGCCAAGG	0.557													A	42085912	C	A	42085912	3	1	153	1	0	0	0	0	1	0	0	0	10221	506	18	4	1574	4	NAGS	17	42085912	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4100270	42085912	39109298	141	10531											
SEPT4	5414	broad.mit.edu	37	chr17	56603127	56603127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattgacaagtgtggatttgCccaggccagactctcctgag	9	11	11	10	0	1	3	0	2	1	1	2	4	1	4	3	2	1	0	3	2	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:56603127C>T	uc010wnx.2	-	4	657	c.512G>A	c.(511-513)gGc>gAc	p.G171D	SEPT4_uc002iwk.2_Missense_Mutation_p.G9D|SEPT4_uc010wnw.2_Missense_Mutation_p.G9D|SEPT4_uc002iwl.2_Missense_Mutation_p.G9D|SEPT4_uc002iwm.2_Missense_Mutation_p.G156D|SEPT4_uc002iwo.2_Missense_Mutation_p.G137D|SEPT4_uc002iwp.2_Missense_Mutation_p.G137D|SEPT4_uc010wny.2_Missense_Mutation_p.G148D|SEPT4_uc010dcy.2_Missense_Mutation_p.G38D	NM_080416	NP_536341	O43236	SEPT4_HUMAN	Homo sapiens septin 4 (SEPT4), transcript variant 3, mRNA.	156					apoptosis|cell cycle|cytokinesis|regulation of apoptosis	cytoskeleton|mitochondrion|nucleus	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R171R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	18	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGGATTTGCCCAGGCCAGA	0.502													T	56603127	C	T	56603127	3	4	153	1	0	0	0	0	1	0	0	0	14159	739	26	2	1090	2	SEPT4	17	56603127	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	14517215	56603127	24592083	142	10532											
CD7	924	broad.mit.edu	37	chr17	80274632	80274632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtccgacagctgcaggCggtgcatggtgatagtcagg	8	8	16	9	2	1	1	1	1	0	0	2	2	2	1	1	4	3	3	1	4	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80274632C>T	uc002kel.1	-	1	417	c.308G>A	c.(307-309)cGc>cAc	p.R103H	CD7_uc010din.3_Missense_Mutation_p.R103H|CD7_uc010wvk.1_Missense_Mutation_p.R103H	NM_006137	NP_006128	P09564	CD7_HUMAN	Homo sapiens CD7 molecule (CD7), mRNA.	103	Ig-like.				immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CAGCTGCAGGCGGTGCATGGT	0.612													T	80274632	C	T	80274632	3	4	153	1	0	0	0	0	1	0	0	0	3062	768	27	1	426	1	CD7	17	80274632	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	23671505	80274632	920578	143	10533											
B3GNTL1	146712	broad.mit.edu	37	chr17	80915279	80915279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggtacagccggcgccCctgcttgccagcgttccaga	5	7	13	16	4	0	1	0	0	0	1	1	1	1	1	5	2	6	4	5	2	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr17:80915279C>G	uc002kgg.1	-	8	831	c.817G>C	c.(817-819)Ggg>Cgg	p.G273R	B3GNTL1_uc002kgf.1_Missense_Mutation_p.G162R|B3GNTL1_uc002kge.1_Non-coding_Transcript	NM_001009905	NP_001009905	Q67FW5	B3GNL_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1 (B3GNTL1), mRNA.	273							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			AGCCGGCGCCCCTGCTTGCCA	0.692													G	80915279	C	G	80915279	3	3	153	1	0	0	0	0	1	0	0	0	1270	623	22	4	284	4	B3GNTL1	17	80915279	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	640647	80915279	279931	144	10534											
SMCHD1	23347	broad.mit.edu	37	chr18	2700592	2700592	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttgagaaagcagctagAgggaaaaggcctatttttga	15	10	11	5	0	0	3	0	2	0	2	0	5	0	4	1	2	3	2	1	2	6	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:2700592A>T	uc002klm.4	+	10	1587	c.1398A>T	c.(1396-1398)agA>agT	p.R466S	SMCHD1_uc002klk.4_5'Flank	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	466					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAGCAGCTAGAGGGAAAAGGC	0.303													T	2700592	A	T	2700592	3	4	153	1	0	0	0	0	1	0	0	0	14882	301	11	5	1440	5	SMCHD1	18	2700592	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08		2700592	75376656	145	10535											
C18orf8	29919	broad.mit.edu	37	chr18	21089223	21089223	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaattgtcttcataacagatCaaggaatcgaattttaccag	16	12	6	7	1	3	1	2	0	1	1	4	3	3	2	1	1	2	0	1	1	6	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:21089223C>G	uc021uie.1	+	4	509	c.388C>G	c.(388-390)Caa>Gaa	p.Q130E	C18orf8_uc010xau.1_5'UTR|C18orf8_uc010xav.1_Intron|C18orf8_uc010xaw.1_Intron	NM_013326	NP_037458	Q96DM3	MIC1_HUMAN	Homo sapiens chromosome 18 open reading frame 8 (C18orf8), mRNA.	130										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CATAACAGATCAAGGAATCGA	0.294													G	21089223	C	G	21089223	3	3	153	1	0	0	0	0	1	0	0	0	1926	827	29	4	406	4	C18orf8	18	21089223	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	18388631	21089223	56988025	146	10536											
DSG4	147409	broad.mit.edu	37	chr18	28968938	28968938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataacgctccagtcttttcGcaaagtgtatacacagccag	12	10	8	11	2	1	0	0	0	1	0	3	1	2	0	2	0	3	3	2	0	4	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:28968938G>A	uc002kwr.2	+	4	609	c.474G>A	c.(472-474)tcG>tcA	p.S158S	DSG4_uc002kwq.2_Silent_p.S158S	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGTCTTTTCGCAAAGTGTAT	0.413													A	28968938	G	A	28968938	2	1	153	1	0	0	0	0	0	0	0	1	4818	1074	38	1		1	DSG4	18	28968938	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	7879715	28968938	49108310	147	10537											
NOL4	8715	broad.mit.edu	37	chr18	31432915	31432915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacggcattgatttcagttGgactcagctggggtctggag	7	12	14	8	1	4	1	3	1	1	0	4	3	4	3	0	5	1	3	0	5	0	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:31432915G>A	uc010dmi.3	-	10	2106	c.1808C>T	c.(1807-1809)cCa>cTa	p.P603L	NOL4_uc010xbs.2_Missense_Mutation_p.P318L|NOL4_uc002kxr.4_Missense_Mutation_p.P375L|NOL4_uc010xbt.2_Missense_Mutation_p.P529L|NOL4_uc010dmh.3_Missense_Mutation_p.P465L|NOL4_uc010xbu.2_Missense_Mutation_p.P539L|NOL4_uc002kxt.4_Missense_Mutation_p.P501L	NM_003787	NP_001185478	O94818	NOL4_HUMAN	Homo sapiens nucleolar protein 4 (NOL4), transcript variant 1, mRNA.	603						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GATTTCAGTTGGACTCAGCTG	0.448													A	31432915	G	A	31432915	3	1	153	1	0	0	0	0	1	0	0	0	10600	1348	47	2	112	2	NOL4	18	31432915	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2463977	31432915	46644333	148	10538											
MYO5B	4645	broad.mit.edu	37	chr18	47405384	47405384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgaatattccttcacaagGttctggtaccgggatcgctc	8	13	10	10	2	2	1	1	1	1	0	5	2	3	2	2	3	1	3	2	3	4	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:47405384G>T	uc002leb.2	-	23	3495	c.3207C>A	c.(3205-3207)aaC>aaA	p.N1069K	MYO5B_uc002lea.2_Missense_Mutation_p.N210K	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	1069					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCTTCACAAGGTTCTGGTACC	0.488													T	47405384	G	T	47405384	3	4	153	1	0	0	0	0	1	0	0	0	10155	1252	44	4	2407	4	MYO5B	18	47405384	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	15972469	47405384	30671864	149	10539											
CCBE1	147372	broad.mit.edu	37	chr18	57105364	57105364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccctctgggcccaggCgctcctctctccccctaaaa	7	7	9	18	1	2	1	0	0	2	1	5	2	4	1	5	3	0	1	5	3	2	1	rs144169027		TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:57105364C>T	uc002lib.3	-	9	1036	c.966G>A	c.(964-966)gcG>gcA	p.A322A	CCBE1_uc010dpq.3_Silent_p.A51A|CCBE1_uc002lia.3_Silent_p.A175A	NM_133459	NP_597716	Q6UXH8	CCBE1_HUMAN	Homo sapiens collagen and calcium binding EGF domains 1 (CCBE1), mRNA.	322	Collagen-like 2.				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				TGGGCCCAGGCGCTCCTCTCT	0.507													T	57105364	C	T	57105364	2	4	153	1	0	0	0	0	0	0	0	1	2757	755	27	1		1	CCBE1	18	57105364	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	9699980	57105364	20971884	150	10540											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60033975	60033975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatcaatgaggcttgtggCcgcctaagtggagataaggt	10	10	15	6	1	1	2	1	1	0	1	1	4	1	3	2	5	0	1	2	5	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:60033975C>T	uc002lin.3	+	7	803	c.765C>T	c.(763-765)ggC>ggT	p.G255G	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	255					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				AGGCTTGTGGCCGCCTAAGTG	0.403													T	60033975	C	T	60033975	2	4	153	1	0	0	0	0	0	0	0	1	16384	726	26	2		2	TNFRSF11A	18	60033975	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	2928611	60033975	18043273	151	10541											
RTTN	25914	broad.mit.edu	37	chr18	67718720	67718720	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcaccagctttcctcagGagcatggccagaagattaaa	13	8	10	10	0	1	2	1	0	0	2	2	3	2	3	3	3	2	3	3	3	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:67718720G>T	uc002lkp.2	-	38	5318	c.5250C>A	c.(5248-5250)ctC>ctA	p.L1750L	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Silent_p.L838L|RTTN_uc010dqp.2_Silent_p.L2L	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	1750							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTTTCCTCAGGAGCATGGCCA	0.408													T	67718720	G	T	67718720	2	4	153	1	0	0	0	0	0	0	0	1	13828	1161	41	4		4	RTTN	18	67718720	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	7684745	67718720	10358528	152	10542											
SALL3	27164	broad.mit.edu	37	chr18	76757007	76757007	+	Frame_Shift_Del	DEL	C	C	-																															ctgaagttctctgaaatgttCcagaaggacctggcagctcg																										TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr18:76757007delC	uc002lmt.3	+	2	3588	c.3588delC	c.(3586-3588)ttcfs	p.F1196fs	SALL3_uc010dra.3_Frame_Shift_Del_p.F731fs	NM_171999	NP_741996	Q9BXA9	SALL3_HUMAN	Homo sapiens sal-like 3 (Drosophila) (SALL3), mRNA.	1196					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CTGAAATGTTCCAGAAGGACC	0.577													-	76757007	C	-	76757007	7	5	153	1	0	1	0	1	0	0	0	0	13903	854	30	0	3598	0	SALL3	18	76757007	Frame_Shift_Del	DEL	C	TCGA-19-1790-01B-01D-1353-08	9038287	76757007	1320241	153	10543											
TCF3	6929	broad.mit.edu	37	chr19	1619469	1619469	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtcttctatcttaCtctgctgcagggtgggggga	5	12	15	9	0	4	0	0	0	4	0	4	1	4	1	1	6	3	2	1	6	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:1619469C>G	uc002ltr.3	-	14	1241	c.1172G>C	c.(1171-1173)aGt>aCt	p.S391T	TCF3_uc002lto.3_Splice_Site_p.S152_splice|TCF3_uc002ltt.4_Missense_Mutation_p.S391T|TCF3_uc002ltq.3_Missense_Mutation_p.S340T|TCF3_uc002lts.1_Missense_Mutation_p.S307T|TCF3_uc010dso.1_Intron	NM_003200	NP_003191	P15923	TFE2_HUMAN	Homo sapiens transcription factor 3 (E2A immunoglobulin enhancer binding factors E12/E47) (TCF3), transcript variant 1, mRNA.	391	Leucine-zipper.				B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		TTCTATCTTACTCTGCTGCAG	0.682			T	"PBX1, HLF, TFPT"	pre B-ALL								G	1619469	C	G	1619469	3	3	153	1	0	0	0	0	1	0	0	0	15794	565	20	4	1043	4	TCF3	19	1619469	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		1619469	57509514	154	10544											
RFX2	5990	broad.mit.edu	37	chr19	6007158	6007158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccttgggcaggacggCgccctcggggtcttcgtcac	3	10	14	14	4	2	0	1	0	1	0	5	1	3	1	2	5	0	1	2	5	0	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:6007158C>T	uc002meb.3	-	11	1536	c.1267G>A	c.(1267-1269)Gcc>Acc	p.A423T	RFX2_uc002mec.3_Missense_Mutation_p.A398T|AX748210_uc002med.1_3'UTR	NM_000635	NP_000626	P48378	RFX2_HUMAN	Homo sapiens regulatory factor X, 2 (influences HLA class II expression) (RFX2), transcript variant 1, mRNA.	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGCAGGACGGCGCCCTCGGGG	0.662													T	6007158	C	T	6007158	3	4	153	1	0	0	0	0	1	0	0	0	13351	768	27	1	932	1	RFX2	19	6007158	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4387689	6007158	53121825	155	10545											
MAN2B1	4125	broad.mit.edu	37	chr19	12757445	12757445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcagacctaaccatccaCctccttccattgaactgagg	11	8	6	16	0	0	3	0	2	0	1	3	3	3	3	7	1	3	1	7	1	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:12757445C>A	uc002mub.2	-	23	3101	c.3025G>T	c.(3025-3027)Gtg>Ttg	p.V1009L	MAN2B1_uc010dyv.1_Missense_Mutation_p.V1008L	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	1009					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TAACCATCCACCTCCTTCCAT	0.602													A	12757445	C	A	12757445	3	1	153	1	0	0	0	0	1	0	0	0	9291	507	18	4	14	4	MAN2B1	19	12757445	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	6750287	12757445	46371538	156	10546											
DCAF15	90379	broad.mit.edu	37	chr19	14065391	14065391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgtcctctcctacaccaGcagcagtggggatgacgact	9	8	10	14	2	1	1	0	1	1	0	3	3	2	2	3	2	4	2	3	2	2	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:14065391G>A	uc002mxt.3	+	2	290	c.284G>A	c.(283-285)aGc>aAc	p.S95N	PODNL1_uc010xnj.2_5'Flank|PODNL1_uc002mxs.3_5'Flank	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	95								p.T94T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCCTACACCAGCAGCAGTGGG	0.582													A	14065391	G	A	14065391	3	1	153	1	0	0	0	0	1	0	0	0	4301	971	34	2	294	2	DCAF15	19	14065391	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	1307946	14065391	45063592	157	10547											
MAP1S	55201	broad.mit.edu	37	chr19	17844118	17844118	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatgaggagttcttcCagcgcgtgcgcgcgctctgc	4	10	16	11	5	2	1	0	1	2	0	3	3	3	3	1	3	3	2	1	3	0	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:17844118C>T	uc002nhe.1	+	5	2914	c.2905C>T	c.(2905-2907)Cag>Tag	p.Q969*	MAP1S_uc010xpv.1_Nonsense_Mutation_p.Q943*	NM_018174	NP_060644	Q66K74	MAP1S_HUMAN	Homo sapiens microtubule-associated protein 1S (MAP1S), mRNA.	969	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.|Necessary for the mitochondrial aggregation and genome destruction.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTTCTTCCAGCGCGTGCG	0.687													T	17844118	C	T	17844118	4	4	153	1	0	0	0	0	0	1	0	0	9309	595	21	2	2927	2	MAP1S	19	17844118	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	3778727	17844118	41284865	158	10548											
ATP13A1	57130	broad.mit.edu	37	chr19	19756301	19756301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggccaggagcgccaggCagaagtccaggagcaggacc	10	2	17	12	2	0	1	0	0	0	1	2	4	1	4	4	6	2	2	4	6	1	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:19756301C>G	uc002nnh.4	-	25	3573	c.3545G>C	c.(3544-3546)tGc>tCc	p.C1182S	GMIP_uc002nnd.3_5'Flank|GMIP_uc010xrb.2_5'Flank|GMIP_uc010xrc.2_5'Flank|ATP13A1_uc002nne.3_Missense_Mutation_p.C322S|ATP13A1_uc002nnf.4_Missense_Mutation_p.C550S|ATP13A1_uc002nng.3_Missense_Mutation_p.C1064S	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	1182					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GAGCGCCAGGCAGAAGTCCAG	0.647													G	19756301	C	G	19756301	3	3	153	1	0	0	0	0	1	0	0	0	1128	710	25	4	73	4	ATP13A1	19	19756301	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	1912183	19756301	39372682	159	10549											
GRAMD1A	57655	broad.mit.edu	37	chr19	35512755	35512755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccctgtgcccgggccggCattcacacctcgggtacgtt	5	8	12	16	4	1	0	1	0	0	0	2	1	1	0	5	3	2	3	5	3	1	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:35512755C>A	uc010xsf.1	+	14	1755	c.1755C>A	c.(1753-1755)ggC>ggA	p.G585G	GRAMD1A_uc010xse.1_Silent_p.G580G|GRAMD1A_uc002nxk.2_Silent_p.G573G|GRAMD1A_uc002nxl.2_Silent_p.G346G|GRAMD1A_uc002nxn.1_Silent_p.G195G	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	580						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CCCGGGCCGGCATTCACACCT	0.711													A	35512755	C	A	35512755	2	1	153	1	0	0	0	0	0	0	0	1	6802	697	25	4		4	GRAMD1A	19	35512755	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	15756454	35512755	23616228	160	10550											
ZNF565	147929	broad.mit.edu	37	chr19	36673611	36673611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccacattccttacattcGtagggtttgtcacctgtatg	7	16	7	11	1	1	0	1	0	0	0	4	0	3	0	3	1	1	3	3	1	3	7			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:36673611G>A	uc002odn.3	-	4	1365	c.1257C>T	c.(1255-1257)taC>taT	p.Y419Y	ZNF565_uc010ees.3_Silent_p.Y354Y|ZNF565_uc002odo.3_Silent_p.Y419Y	NM_152477	NP_689690	Q8N9K5	ZN565_HUMAN	Homo sapiens zinc finger protein 565 (ZNF565), transcript variant 2, mRNA.	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			CCTTACATTCGTAGGGTTTGT	0.448													A	36673611	G	A	36673611	2	1	153	1	0	0	0	0	0	0	0	1	18097	1140	40	1		1	ZNF565	19	36673611	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	1160856	36673611	22455372	161	10551											
SIRT2	22933	broad.mit.edu	37	chr19	39371782	39371782	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgggaggctctcaccAaaaaagacgatatctgaggt	12	7	12	10	3	2	2	1	1	2	1	3	4	2	3	1	3	0	2	1	3	4	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:39371782A>C	uc002ojt.2	-	10	1046	c.705T>G	c.(703-705)ttT>ttG	p.F235L	RINL_uc002ojq.3_5'Flank|RINL_uc010xuo.2_5'Flank|SIRT2_uc010egi.2_Missense_Mutation_p.F198L|SIRT2_uc002ojs.2_Missense_Mutation_p.F215L|SIRT2_uc002oju.2_Missense_Mutation_p.F198L|SIRT2_uc010egh.2_Missense_Mutation_p.F198L|SIRT2_uc002ojv.2_Missense_Mutation_p.F233L	NM_012237	NP_085096	Q8IXJ6	SIRT2_HUMAN	Homo sapiens sirtuin 2 (SIRT2), transcript variant 1, mRNA.	235	Deacetylase sirtuin-type.				cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			GGCTCTCACCAAAAAAGACGA	0.617													C	39371782	A	C	39371782	3	2	153	1	0	0	0	0	1	0	0	0	14432	127	5	5	488	5	SIRT2	19	39371782	Missense_Mutation	SNP	A	TCGA-19-1790-01B-01D-1353-08	2698171	39371782	19757201	162	10552											
PSG5	5673	broad.mit.edu	37	chr19	43689016	43689016	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggtgtaggatcctgcGtcttcccgggtgacattctg	6	13	13	9	2	2	1	0	1	2	0	4	2	4	2	2	3	1	2	2	3	2	4	rs143404539	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:43689016G>A	uc002ovu.3	-	1	479	c.348C>T	c.(346-348)gaC>gaT	p.D116D	PSG4_uc010xwk.1_Intron|PSG5_uc002ovx.3_Silent_p.D116D	NM_002781	NP_002772	Q15238	PSG5_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 5 (PSG5), transcript variant 1, mRNA.	116	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(18)|prostate(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(69;0.00899)				AGGATCCTGCGTCTTCCCGGG	0.438													A	43689016	G	A	43689016	2	1	153	1	0	0	0	0	0	0	0	1	12743	1136	40	1		1	PSG5	19	43689016	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	4317234	43689016	15439967	163	10553											
PRKD2	25865	broad.mit.edu	37	chr19	47197301	47197301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggtggcattggcagtgacGatctcaaagcagtgtgggtt	9	11	15	6	1	1	1	1	1	1	0	2	2	1	1	0	4	1	4	0	4	2	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47197301G>A	uc002pfh.3	-	10	1749	c.1407C>T	c.(1405-1407)atC>atT	p.I469I	PRKD2_uc010ekt.3_5'Flank|PRKD2_uc002pfg.3_Silent_p.I312I|PRKD2_uc002pfi.3_Silent_p.I469I|PRKD2_uc002pfj.3_Silent_p.I469I|PRKD2_uc010xye.2_Silent_p.I469I|PRKD2_uc002pfk.3_Silent_p.I312I	NM_001079881	NP_001073351	Q9BZL6	KPCD2_HUMAN	Homo sapiens protein kinase D2 (PRKD2), transcript variant 3, mRNA.	469	PH.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		TGGCAGTGACGATCTCAAAGC	0.647													A	47197301	G	A	47197301	2	1	153	1	0	0	0	0	0	0	0	1	12605	1048	37	1		1	PRKD2	19	47197301	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3508285	47197301	11931682	164	10554											
DHX34	9704	broad.mit.edu	37	chr19	47879753	47879753	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaccccacctgcgtcttCgctggcagccccgaggtgct	4	8	11	18	3	1	0	0	0	1	0	2	1	1	0	5	2	4	4	5	2	0	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:47879753C>T	uc010xyn.2	+	11	2884	c.2535C>T	c.(2533-2535)ttC>ttT	p.F845F	DHX34_uc010xyo.1_5'Flank	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	845						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCTGCGTCTTCGCTGGCAGCC	0.652													T	47879753	C	T	47879753	2	4	153	1	0	0	0	0	0	0	0	1	4546	883	31	1		1	DHX34	19	47879753	Silent	SNP	C	TCGA-19-1790-01B-01D-1353-08	682452	47879753	11249230	165	10555											
ZNF649	65251	broad.mit.edu	37	chr19	52394397	52394397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgatgtatgttgagattgCccttctgaatgaagcctttt	8	17	10	6	0	1	4	0	4	1	1	1	5	1	4	2	0	2	3	2	0	3	7			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:52394397C>T	uc002pxy.3	-	4	1318	c.992G>A	c.(991-993)gGc>gAc	p.G331D	ZNF577_uc010ydf.1_5'Flank	NM_023074	NP_075562	Q9BS31	ZN649_HUMAN	Homo sapiens zinc finger protein 649 (ZNF649), mRNA.	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		GTTGAGATTGCCCTTCTGAAT	0.453													T	52394397	C	T	52394397	3	4	153	1	0	0	0	0	1	0	0	0	18165	739	26	2	529	2	ZNF649	19	52394397	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	4514644	52394397	6734586	166	10556											
ZNF347	84671	broad.mit.edu	37	chr19	53645153	53645153	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttttcgccagtatggaTcacctgatgggtagttaggt	8	14	12	7	2	1	1	1	1	0	0	2	2	1	2	2	3	0	4	2	3	3	5			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:53645153T>A	uc002qbc.2	-	4	1358	c.931A>T	c.(931-933)Atc>Ttc	p.I311F	ZNF347_uc002qbb.2_Missense_Mutation_p.I310F|ZNF347_uc010eql.2_Missense_Mutation_p.I311F	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CCAGTATGGATCACCTGATGG	0.388													A	53645153	T	A	53645153	3	1	153	1	0	0	0	0	1	0	0	0	17962	1435	50	5	1595	5	ZNF347	19	53645153	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1250756	53645153	5483830	167	10557											
NLRP7	199713	broad.mit.edu	37	chr19	55447703	55447703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatcgtgcgttcccactcGatgtgccctgccagggtcag	6	10	11	14	3	2	0	2	0	0	0	5	1	3	0	3	1	3	1	3	1	0	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:55447703G>A	uc002qih.4	-	5	2302	c.2226C>T	c.(2224-2226)atC>atT	p.I742I	NLRP7_uc010esk.3_Silent_p.I742I|NLRP7_uc002qig.4_Silent_p.I714I|NLRP7_uc002qii.4_Silent_p.I742I|NLRP7_uc010esl.3_Silent_p.I770I	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	742							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GTTCCCACTCGATGTGCCCTG	0.552													A	55447703	G	A	55447703	2	1	153	1	0	0	0	0	0	0	0	1	10558	1048	37	1		1	NLRP7	19	55447703	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	1802550	55447703	3681280	168	10558											
ZNF329	79673	broad.mit.edu	37	chr19	58640193	58640193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtataaggcttctctccGgtgtgagttcggtgatgcaa	9	12	12	8	2	1	2	0	2	1	0	4	2	2	2	1	3	1	4	1	3	4	4	rs116840582	byFrequency	TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr19:58640193G>A	uc002qrn.3	-	3	915	c.678C>T	c.(676-678)acC>acT	p.T226T	ZNF329_uc010euk.1_Non-coding_Transcript|ZNF329_uc002qro.1_Non-coding_Transcript|ZNF329_uc002qrp.1_Non-coding_Transcript|ZNF329_uc021vcv.1_Silent_p.T226T	NM_024620	NP_078896	Q86UD4	ZN329_HUMAN	Homo sapiens zinc finger protein 329 (ZNF329), mRNA.	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GCTTCTCTCCGGTGTGAGTTC	0.433													A	58640193	G	A	58640193	2	1	153	1	0	0	0	0	0	0	0	1	17948	1103	39	1		1	ZNF329	19	58640193	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3192490	58640193	488790	169	10559											
RBCK1	10616	broad.mit.edu	37	chr20	409649	409649	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtgccagatcgtggtaCagaagaaggacggctgcgac	11	5	14	11	3	0	3	0	0	0	3	1	5	0	4	2	3	3	2	2	3	3	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:409649C>T	uc002wdp.4	+	10	2056	c.1363C>T	c.(1363-1365)Cag>Tag	p.Q455*	RBCK1_uc002wdq.4_Nonsense_Mutation_p.Q413*|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Nonsense_Mutation_p.Q285*	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	455					interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				GATCGTGGTACAGAAGAAGGA	0.682													T	409649	C	T	409649	4	4	153	1	0	0	0	0	0	1	0	0	13195	479	17	2	1424	2	RBCK1	20	409649	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08		409649	62615871	170	10560											
RBPJL	11317	broad.mit.edu	37	chr20	43936878	43936878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgacaggcggagcctcccgGgcacttggaccaggtaacgg	8	4	15	14	4	0	0	0	0	0	0	1	3	1	2	4	6	2	2	4	6	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr20:43936878G>T	uc002xns.3	+	1	190	c.118G>T	c.(118-120)Ggc>Tgc	p.G40C	MATN4_uc002xnp.2_5'UTR|MATN4_uc002xnn.2_5'UTR|MATN4_uc002xno.2_5'UTR|MATN4_uc010zwr.1_5'Flank|MATN4_uc002xnr.1_5'UTR|RBPJL_uc002xnt.3_Missense_Mutation_p.G40C	NM_014276	NP_055091	Q9UBG7	RBPJL_HUMAN	Homo sapiens recombination signal binding protein for immunoglobulin kappa J region-like (RBPJL), mRNA.	40					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GAGCCTCCCGGGCACTTGGAC	0.642													T	43936878	G	T	43936878	3	4	153	1	0	0	0	0	1	0	0	0	13250	1232	43	4	124	4	RBPJL	20	43936878	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	43527229	43936878	19088642	171	10561											
GGTLC2	91227	broad.mit.edu	37	chr22	22989259	22989259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctccccggtcagcgagaTcctgttcaatgatgaaatgg	9	9	11	12	3	2	3	2	2	0	1	4	4	4	3	4	2	1	2	4	2	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:22989259T>A	uc010gts.2	+	1	246	c.212T>A	c.(211-213)aTc>aAc	p.I71N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|POM121L1P_uc011ait.1_5'Flank|GGTLC2_uc010gtt.2_Missense_Mutation_p.I71N	NM_199127	NP_954578	Q14390	GGTL2_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 2 (GGTLC2), transcript variant 1, mRNA.	71					glutathione biosynthetic process		gamma-glutamyltransferase activity	p.E70G(1)|p.E70*(1)		endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	11	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.3e-31)|Acute lymphoblastic leukemia(6;5.54e-23)		READ - Rectum adenocarcinoma(21;0.145)		GTCAGCGAGATCCTGTTCAAT	0.592													A	22989259	T	A	22989259	3	1	153	1	0	0	0	0	1	0	0	0	6422	1435	50	5	218	5	GGTLC2	22	22989259	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08		22989259	28315307	172	10562											
PLA2G6	8398	broad.mit.edu	37	chr22	38541510	38541510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagccaggtgggccactgaCcagctggggtggttacggat	8	7	16	10	1	0	1	0	1	0	0	0	2	0	2	3	6	3	2	3	6	1	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:38541510C>G	uc003auy.1	-	2	496	c.360G>C	c.(358-360)tgG>tgC	p.W120C	PLA2G6_uc003auz.1_Missense_Mutation_p.W120C|PLA2G6_uc003ava.1_Missense_Mutation_p.W120C|PLA2G6_uc003avb.2_Missense_Mutation_p.W120C|PLA2G6_uc010gxk.1_Intron|PLA2G6_uc011ano.1_Missense_Mutation_p.W120C	NM_003560	NP_003551	O60733	PA2G6_HUMAN	Homo sapiens phospholipase A2, group VI (cytosolic, calcium-independent) (PLA2G6), transcript variant 1, mRNA.	120					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	GGGCCACTGACCAGCTGGGGT	0.577													G	38541510	C	G	38541510	3	3	153	1	0	0	0	0	1	0	0	0	12085	508	18	4	2120	4	PLA2G6	22	38541510	Missense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	15552251	38541510	12763056	173	10563											
RANGAP1	5905	broad.mit.edu	37	chr22	41652054	41652054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaccttggccatgttGaagccctccagcacctcctg	7	8	9	17	0	0	1	0	1	0	0	2	1	2	1	7	1	3	3	7	1	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:41652054G>T	uc003azs.3	-	8	2514	c.1044C>A	c.(1042-1044)ttC>ttA	p.F348L	RANGAP1_uc003azt.3_Missense_Mutation_p.F348L|RANGAP1_uc003azu.3_Missense_Mutation_p.F348L|RANGAP1_uc011aoz.2_Missense_Mutation_p.F293L	NM_002883	NP_002874	P46060	RAGP1_HUMAN	Homo sapiens Ran GTPase activating protein 1 (RANGAP1), mRNA.	348					mitotic prometaphase|signal transduction	condensed chromosome kinetochore|cytosol|nuclear membrane|nuclear pore|soluble fraction|spindle pole	protein binding|Ran GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGGCCATGTTGAAGCCCTCCA	0.597													T	41652054	G	T	41652054	3	4	153	1	0	0	0	0	1	0	0	0	13121	1281	45	4	747	4	RANGAP1	22	41652054	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3110544	41652054	9652512	174	10564											
SBF1	6305	broad.mit.edu	37	chr22	50904674	50904674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctgagccggcaggatggGcacataggtgaagctgtgca	10	6	16	9	1	0	2	0	2	0	0	0	3	0	3	1	4	4	5	1	4	2	1			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chr22:50904674G>A	uc003blh.3	-	7	997	c.802C>T	c.(802-804)Ccc>Tcc	p.P268S	SBF1_uc011arx.2_5'UTR|SBF1_uc003bli.2_Missense_Mutation_p.P269S	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	268	DENN.				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)		GGCAGGATGGGCACATAGGTG	0.672													A	50904674	G	A	50904674	3	1	153	1	0	0	0	0	1	0	0	0	13950	1203	42	2	5015	2	SBF1	22	50904674	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	9252620	50904674	399892	175	10565											
NLGN4X	57502	broad.mit.edu	37	chrX	5811228	5811228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttttgtagtacagcgccGcaaaagctaagatgttgagg	11	11	11	8	2	0	2	0	1	0	1	0	2	0	2	2	1	3	5	2	1	5	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:5811228G>A	uc010ndi.3	-	6	2656	c.2192C>T	c.(2191-2193)gCg>gTg	p.A731V	NLGN4X_uc004crp.3_Missense_Mutation_p.A714V|NLGN4X_uc010ndh.3_Missense_Mutation_p.A694V|NLGN4X_uc004crq.3_Missense_Mutation_p.A694V|NLGN4X_uc004crr.3_Missense_Mutation_p.A694V|NLGN4X_uc010ndj.3_Missense_Mutation_p.A694V	NM_181332	NP_851849	Q8N0W4	NLGNX_HUMAN	Homo sapiens neuroligin 4, X-linked (NLGN4X), transcript variant 2, mRNA.	694					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity	p.A694V(1)|p.M730V(1)		breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTACAGCGCCGCAAAAGCTAA	0.502													A	5811228	G	A	5811228	3	1	153	1	0	0	0	0	1	0	0	0	10540	1087	38	1	373	1	NLGN4X	23	5811228	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08		5811228	149459332	176	10566											
VCX3B	425054	broad.mit.edu	37	chrX	8433516	8433516	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccaaagccgagagcctcgGgacctccggccaaggccaag	10	3	13	15	3	0	1	0	0	0	1	3	3	2	2	7	3	2	0	7	3	3	0			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:8433516G>T	uc011mht.2	+	1	332	c.25G>T	c.(25-27)Gga>Tga	p.G9*	VCX3B_uc004csd.1_Nonsense_Mutation_p.G9*|VCX3B_uc022bsj.1_5'Flank	NM_001001888	NP_001001888	Q9H321	VCX3B_HUMAN	Homo sapiens variable charge, X-linked 3B (VCX3B), mRNA.	9						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GAGAGCCTCGGGACCTCCGGC	0.607													T	8433516	G	T	8433516	4	4	153	1	0	0	0	0	0	1	0	0	17247	1233	43	4	27	4	VCX3B	23	8433516	Nonsense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	2622288	8433516	146837044	177	10567											
DMD	1756	broad.mit.edu	37	chrX	32503062	32503062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctctttctctctggccTgcacatcagaaaagacttgc	9	12	8	12	0	4	2	1	0	3	2	5	2	4	2	1	1	3	3	1	1	3	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:32503062T>C	uc004dda.1	-	20	3021	c.2777A>G	c.(2776-2778)cAg>cGg	p.Q926R	DMD_uc004dcz.2_Missense_Mutation_p.Q803R|DMD_uc004dcy.1_Missense_Mutation_p.Q922R|DMD_uc004ddb.1_Missense_Mutation_p.Q918R|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	926					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTCTGGCCTGCACATCAGA	0.408													C	32503062	T	C	32503062	3	2	153	1	0	0	0	0	1	0	0	0	4619	1580	55	3	8759	3	DMD	23	32503062	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	24069546	32503062	122767498	178	10568											
CXorf22	170063	broad.mit.edu	37	chrX	36007487	36007487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagtaacttggcagcaggGcttcagttctccagaagaag	12	9	12	8	0	2	3	1	1	1	2	3	3	2	3	1	2	2	5	1	2	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:36007487G>A	uc004ddj.3	+	15	2831	c.2765G>A	c.(2764-2766)gGc>gAc	p.G922D	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	922										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TGGCAGCAGGGCTTCAGTTCT	0.368													A	36007487	G	A	36007487	3	1	153	1	0	0	0	0	1	0	0	0	4135	1203	42	2	2827	2	CXorf22	23	36007487	Missense_Mutation	SNP	G	TCGA-19-1790-01B-01D-1353-08	3504425	36007487	119263073	179	10569											
ZC4H2	55906	broad.mit.edu	37	chrX	64140054	64140054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacatgttctttcagtggcTtatactcatcatgcagcctc	8	14	6	13	0	4	0	3	0	1	0	5	0	4	0	2	1	3	3	2	1	2	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:64140054T>C	uc004dvu.3	-	2	461	c.305A>G	c.(304-306)aAg>aGg	p.K102R	ZC4H2_uc004dvv.3_Missense_Mutation_p.K79R|ZC4H2_uc022byd.1_Missense_Mutation_p.K79R|ZC4H2_uc022byc.1_Missense_Mutation_p.K79R|ZC4H2_uc011mow.2_Missense_Mutation_p.K102R|ZC4H2_uc011mov.2_Missense_Mutation_p.K79R|ZC4H2_uc004dvw.2_Missense_Mutation_p.K102R	NM_018684	NP_001230733	Q9NQZ6	ZC4H2_HUMAN	Homo sapiens zinc finger, C4H2 domain containing (ZC4H2), transcript variant 1, mRNA.	102							metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTTCAGTGGCTTATACTCATC	0.473													C	64140054	T	C	64140054	3	2	153	1	0	0	0	0	1	0	0	0	17679	1609	56	3	400	3	ZC4H2	23	64140054	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	28132567	64140054	91130506	180	10570											
EDA	1896	broad.mit.edu	37	chrX	69250324	69250324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatcctgccagccagcTgtggtgcatctacagggcca	7	10	10	14	0	2	0	1	0	2	0	4	0	3	0	4	2	5	2	4	2	1	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:69250324T>C	uc004dxs.3	+	5	989	c.747T>C	c.(745-747)gcT>gcC	p.A249A	EDA_uc011mpj.2_Silent_p.A249A|EDA_uc004dxr.3_Silent_p.A249A	NM_001399	NP_001390	Q92838	EDA_HUMAN	Homo sapiens ectodysplasin A (EDA), transcript variant 1, mRNA.	249					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						GCCAGCCAGCTGTGGTGCATC	0.502											OREG0019846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	69250324	T	C	69250324	2	2	153	1	0	0	0	0	0	0	0	1	4942	1567	55	3		3	EDA	23	69250324	Silent	SNP	T	TCGA-19-1790-01B-01D-1353-08	5110270	69250324	86020236	181	10571											
CDX4	1046	broad.mit.edu	37	chrX	72674301	72674301	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaatagtggaggctcGgtgcaaagtgactctgactc	10	11	13	7	1	1	3	0	3	1	1	3	5	1	4	0	3	1	2	0	3	3	2			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:72674301G>A	uc011mqk.2	+	2	735	c.735G>A	c.(733-735)tcG>tcA	p.S245S		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	245						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GTGGAGGCTCGGTGCAAAGTG	0.448													A	72674301	G	A	72674301	2	1	153	1	0	0	0	0	0	0	0	1	3214	1103	39	1		1	CDX4	23	72674301	Silent	SNP	G	TCGA-19-1790-01B-01D-1353-08	3423977	72674301	82596259	182	10572											
RLIM	51132	broad.mit.edu	37	chrX	73811531	73811531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaggttggtcatcatcaTcctcatttaagaggaaaaac	13	12	7	9	0	5	1	4	0	1	1	6	2	6	2	1	3	1	1	1	3	4	4			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:73811531T>C	uc004ebu.3	-	4	1909	c.1619A>G	c.(1618-1620)gAt>gGt	p.D540G	RLIM_uc004ebw.3_Missense_Mutation_p.D540G	NM_183353	NP_899196	Q9NVW2	RNF12_HUMAN	Homo sapiens ring finger protein, LIM domain interacting (RLIM), transcript variant 2, mRNA.	540					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCATCATCATCCTCATTTAA	0.458													C	73811531	T	C	73811531	3	2	153	1	0	0	0	0	1	0	0	0	13481	1435	50	3	259	3	RLIM	23	73811531	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	1137230	73811531	81459029	183	10573											
CYLC1	1538	broad.mit.edu	37	chrX	83128534	83128534	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattactcacagaataattCaaagaattattctttgaagt	17	14	5	5	0	3	3	2	1	1	2	3	4	3	3	0	0	1	0	0	0	8	6			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83128534C>G	uc004eei.1	+	3	839	c.818C>G	c.(817-819)tCa>tGa	p.S273*	CYLC1_uc004eeh.1_Nonsense_Mutation_p.S272*	NM_021118	NP_066941	P35663	CYLC1_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 1 (CYLC1), mRNA.	273					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CAGAATAATTCAAAGAATTAT	0.318													G	83128534	C	G	83128534	4	3	153	1	0	0	0	0	0	1	0	0	4174	838	29	4	832	4	CYLC1	23	83128534	Nonsense_Mutation	SNP	C	TCGA-19-1790-01B-01D-1353-08	9317003	83128534	72142026	184	10574											
RPS6KA6	27330	broad.mit.edu	37	chrX	83361995	83361995	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagaagttgcaacaaagcTgaatcctttgaagagctgat	16	10	9	6	0	0	5	0	3	0	2	1	5	1	5	1	0	4	4	1	0	7	3			TCGA-19-1790-01B-01D-1353-08	TCGA-19-1790-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	081e73fe-86ff-4337-be06-3b5cb9759945	287a5160-5729-4ad5-980f-d50fb4769b22	g.chrX:83361995T>C	uc004eej.2	-	13	1201	c.1165A>G	c.(1165-1167)Agc>Ggc	p.S389G	RPS6KA6_uc011mqt.2_Missense_Mutation_p.S389G|RPS6KA6_uc011mqu.2_Missense_Mutation_p.S286G	NM_014496	NP_055311	Q9UK32	KS6A6_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 6 (RPS6KA6), mRNA.	389	AGC-kinase C-terminal.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GCAACAAAGCTGAATCCTTTG	0.343													C	83361995	T	C	83361995	3	2	153	1	0	0	0	0	1	0	0	0	13746	1580	55	3	1108	3	RPS6KA6	23	83361995	Missense_Mutation	SNP	T	TCGA-19-1790-01B-01D-1353-08	233461	83361995	71908565	185	10575											
HFM1	164045	broad.mit.edu	37	chr1	91843657	91843657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctggtattttttaaagtCtgagaaacagactgtacagt	12	14	10	5	0	1	2	0	1	1	2	1	3	1	2	0	1	3	3	0	1	5	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:91843657C>T	uc001doa.4	-	10	1419	c.1320G>A	c.(1318-1320)caG>caA	p.Q440Q	HFM1_uc010osu.2_Silent_p.Q119Q|HFM1_uc010osv.1_Silent_p.Q124Q|HFM1_uc001doc.1_Silent_p.Q440Q	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	440	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTTTAAAGTCTGAGAAACAG	0.368													T	91843657	C	T	91843657	2	4	154	1	0	0	0	0	0	0	0	1	7138	912	32	2		2	HFM1	1	91843657	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08		91843657	157406964	1	10576											
LINGO4	339398	broad.mit.edu	37	chr1	151774511	151774511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgccccagcccccgcaGggccccagctggcagcctcc	5	3	12	21	1	0	0	0	0	0	0	1	1	1	0	8	2	5	4	8	2	0	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:151774511G>A	uc001ezf.1	-	1	860	c.670C>T	c.(670-672)Ctg>Ttg	p.L224L	LINGO4_uc021oyu.1_Silent_p.L224L	NM_001004432	NP_001004432	Q6UY18	LIGO4_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 4 (LINGO4), mRNA.	224						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AGCCCCCGCAGGGCCCCAGCT	0.642													A	151774511	G	A	151774511	2	1	154	1	0	0	0	0	0	0	0	1	8878	991	35	2		2	LINGO4	1	151774511	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	59930854	151774511	97476110	2	10577											
UBQLN4	56893	broad.mit.edu	37	chr1	156011962	156011962	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acctgctgcaggaagactggGagctgcaggcggagctgctc	8	6	16	11	1	0	1	0	0	0	1	1	4	0	4	1	4	6	6	1	4	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156011962G>C	uc001fna.3	-	7	1356	c.1332C>G	c.(1330-1332)ctC>ctG	p.L444L	UBQLN4_uc010pgx.2_Silent_p.L424L	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	444						cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GGAAGACTGGGAGCTGCAGGC	0.617													C	156011962	G	C	156011962	2	2	154	1	0	0	0	0	0	0	0	1	17001	1161	41	4		4	UBQLN4	1	156011962	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	4237451	156011962	93238659	3	10578											
UBQLN4	56893	broad.mit.edu	37	chr1	156021545	156021545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cagtgagcccgtccttgattCcgtgctggttcagtgtgtcc	4	13	12	12	2	1	2	1	2	0	0	4	2	4	2	4	1	2	2	4	1	0	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156021545C>G	uc001fna.3	-	1	236	c.212G>C	c.(211-213)gGa>gCa	p.G71A	UBQLN4_uc010pgx.2_Missense_Mutation_p.G71A|LAMTOR2_uc001fnb.3_5'Flank|LAMTOR2_uc010pgy.1_5'Flank	NM_020131	NP_064516	Q9NRR5	UBQL4_HUMAN	Homo sapiens ubiquilin 4 (UBQLN4), mRNA.	71	Ubiquitin-like.					cytosol|endoplasmic reticulum membrane|nucleus	identical protein binding	p.G71R(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)	16	Hepatocellular(266;0.133)|all_neural(408;0.195)					GTCCTTGATTCCGTGCTGGTT	0.537													G	156021545	C	G	156021545	3	3	154	1	0	0	0	0	1	0	0	0	17001	855	30	4	1633	4	UBQLN4	1	156021545	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	9583	156021545	93229076	4	10579											
IQGAP3	128239	broad.mit.edu	37	chr1	156501015	156501015	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccccaggatggaactgtatGatatcggccaacagctgctt	10	10	10	11	1	0	1	0	1	0	0	2	3	1	3	3	3	4	3	3	3	4	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156501015G>C	uc001fpf.3	-	32	4203	c.4128C>G	c.(4126-4128)atC>atG	p.I1376M		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	1376					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)					GGAACTGTATGATATCGGCCA	0.587													C	156501015	G	C	156501015	3	2	154	1	0	0	0	0	1	0	0	0	7874	1280	45	4	791	4	IQGAP3	1	156501015	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	479470	156501015	92749606	5	10580											
NTRK1	4914	broad.mit.edu	37	chr1	156834161	156834161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagctacatcgagaaccaGcagcatctgcagcatctgga	13	6	9	13	1	2	1	0	0	2	1	3	3	2	2	1	1	7	5	1	1	2	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156834161G>A	uc001fqh.1	+	1	284	c.228G>A	c.(226-228)caG>caA	p.Q76Q	NTRK1_uc001fqf.1_Silent_p.Q46Q|NTRK1_uc009wsi.1_5'UTR|NTRK1_uc001fqi.1_Silent_p.Q76Q|NTRK1_uc009wsk.1_Silent_p.Q76Q	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	76					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	TCGAGAACCAGCAGCATCTGC	0.597			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			A	156834161	G	A	156834161	2	1	154	1	0	0	0	0	0	0	0	1	10782	962	34	2		2	NTRK1	1	156834161	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	333146	156834161	92416460	6	10581											
ARHGEF11	9826	broad.mit.edu	37	chr1	156917714	156917714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtggggaaggagggtatCtgtgcagaaccccaaactgg	11	6	17	7	0	1	1	0	0	1	1	1	4	1	3	2	6	3	2	2	6	4	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:156917714C>T	uc001fqo.3	-	23	3108	c.2068G>A	c.(2068-2070)Gat>Aat	p.D690N	ARHGEF11_uc010phu.2_Missense_Mutation_p.D106N|ARHGEF11_uc001fqn.3_Missense_Mutation_p.D730N	NM_014784	NP_055599	O15085	ARHGB_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 11 (ARHGEF11), transcript variant 1, mRNA.	690					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGAGGGTATCTGTGCAGAAC	0.562													T	156917714	C	T	156917714	3	4	154	1	0	0	0	0	1	0	0	0	899	913	32	2	2568	2	ARHGEF11	1	156917714	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	83553	156917714	92332907	7	10582											
F5	2153	broad.mit.edu	37	chr1	169489788	169489788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaccttgcagttccaatcGaagggtaggtctgttatagg	11	11	11	8	1	1	0	0	0	1	0	3	1	2	0	2	3	2	4	2	3	6	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:169489788G>A	uc001ggg.1	-	21	6308	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	2055	F5/8 type C 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGTTCCAATCGAAGGGTAGGT	0.403													A	169489788	G	A	169489788	4	1	154	1	0	0	0	0	0	1	0	0	5390	1066	37	1	527	1	F5	1	169489788	Nonsense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	12572074	169489788	79760833	8	10583											
LGR6	59352	broad.mit.edu	37	chr1	202287759	202287759	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggtgaggcacgtggcCtggctcatcttcgcagacgg	6	8	15	12	3	2	2	1	1	1	1	3	2	2	2	2	5	0	3	2	5	0	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:202287759C>A	uc001gxu.3	+	17	2328	c.2328C>A	c.(2326-2328)gcC>gcA	p.A776A	LGR6_uc001gxv.3_Silent_p.A724A|LGR6_uc009xab.3_Non-coding_Transcript|LGR6_uc001gxw.3_Silent_p.A637A	NM_001017403	NP_001017403	Q9HBX8	LGR6_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 6 (LGR6), transcript variant 1, mRNA.	776						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCACGTGGCCTGGCTCATCT	0.637													A	202287759	C	A	202287759	2	1	154	1	0	0	0	0	0	0	0	1	8818	668	24	4		4	LGR6	1	202287759	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	32797971	202287759	46962862	9	10584											
RASSF5	83593	broad.mit.edu	37	chr1	206711530	206711530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtcacccagaatgcCgcagcctgatccagttggac	9	8	9	15	1	2	2	2	1	0	1	3	3	3	3	5	1	2	2	5	1	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206711530C>T	uc001hed.3	+	1	544	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	RASSF5_uc001hec.1_Missense_Mutation_p.R163C|RASSF5_uc001hee.3_Missense_Mutation_p.R163C	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	163					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			CCCAGAATGCCGCAGCCTGAT	0.532													T	206711530	C	T	206711530	3	4	154	1	0	0	0	0	1	0	0	0	13177	652	23	1	493	1	RASSF5	1	206711530	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	4423771	206711530	42539091	10	10585											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206902080	206902080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggactgccccaaggcccGcagggaggtggagctgcact	8	5	15	13	1	1	0	1	0	0	0	1	3	1	3	3	5	3	3	3	5	1	0	rs151079567		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:206902080G>A	uc001hem.2	+	1	515	c.305G>A	c.(304-306)cGc>cAc	p.R102H	MAPKAPK2_uc001hel.2_Missense_Mutation_p.R102H	NM_032960	NP_116584	P49137	MAPK2_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 2 (MAPKAPK2), transcript variant 2, mRNA.	102	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|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|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			CCCAAGGCCCGCAGGGAGGTG	0.622													A	206902080	G	A	206902080	3	1	154	1	0	0	0	0	1	0	0	0	9364	1087	38	1	311	1	MAPKAPK2	1	206902080	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	190550	206902080	42348541	11	10586											
ESRRG	2104	broad.mit.edu	37	chr1	216737723	216737723	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgagacaatcttgttatCtgcaggatcagaccagagca	13	10	10	8	0	3	3	1	1	2	3	3	5	3	4	1	1	2	3	1	1	2	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr1:216737723C>G	uc001hkw.2	-	5	874	c.701_splice	c.e5-1	p.Y234_splice	ESRRG_uc009xdp.1_Splice_Site_p.Y211_splice|ESRRG_uc001hky.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkz.2_Splice_Site_p.Y172_splice|ESRRG_uc010puc.2_Splice_Site_p.Y211_splice|ESRRG_uc001hla.2_Splice_Site_p.Y211_splice|ESRRG_uc001hlb.2_Splice_Site_p.Y211_splice|ESRRG_uc010pud.2_Splice_Site_p.Y49_splice|ESRRG_uc021pja.1_Splice_Site|ESRRG_uc001hlc.1_Splice_Site_p.Y211_splice|ESRRG_uc001hld.1_Splice_Site_p.Y211_splice|ESRRG_uc001hkx.2_Missense_Mutation_p.D246H|ESRRG_uc009xdo.2_Splice_Site_p.Y211_splice|ESRRG_uc001hle.2_Splice_Site_p.Y211_splice|ESRRG_uc021piz.1_Splice_Site_p.Y211_splice	NM_001438	NP_001230435	P62508	ERR3_HUMAN	Homo sapiens estrogen-related receptor gamma (ESRRG), transcript variant 1, mRNA.	234					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	ATCTTGTTATCTGCAGGATCA	0.433													G	216737723	C	G	216737723	5	3	154	1	0	0	0	0	0	0	1	0	5303	927	32	4	688	4	ESRRG	1	216737723	Splice_Site	SNP	C	TCGA-19-2619-01A-01D-1495-08	9835643	216737723	32512898	12	10587											
TSSC1	7260	broad.mit.edu	37	chr2	3193249	3193249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgctcctcgtaggtggcGatcacgttgtcctgcagggg	4	11	15	11	4	1	0	1	0	0	0	5	1	3	0	2	4	2	4	2	4	1	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:3193249G>A	uc002qxj.2	-	8	1213	c.1020C>T	c.(1018-1020)atC>atT	p.I340I	TSSC1_uc002qxi.2_Non-coding_Transcript	NM_003310	NP_003301	Q53HC9	TSSC1_HUMAN	Homo sapiens tumor suppressing subtransferable candidate 1 (TSSC1), mRNA.	340							protein binding			breast(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(1)	18	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)	all_cancers(51;0.212)		OV - Ovarian serous cystadenocarcinoma(76;0.00877)|Epithelial(75;0.0283)|all cancers(51;0.0464)		CGTAGGTGGCGATCACGTTGT	0.657													A	3193249	G	A	3193249	2	1	154	1	0	0	0	0	0	0	0	1	16767	1048	37	1		1	TSSC1	2	3193249	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		3193249	240006124	13	10588											
MAP4K4	9448	broad.mit.edu	37	chr2	102486218	102486218	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacgatgtggagcaggaaggGgctgacgagtccacctcagg	10	5	17	9	2	1	1	1	1	0	0	2	6	2	3	2	5	1	2	2	5	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:102486218G>A	uc002tbc.3	+	21	2976	c.2598G>A	c.(2596-2598)ggG>ggA	p.G866G	MAP4K4_uc002tbf.3_Silent_p.G755G|MAP4K4_uc002tbd.3_Silent_p.G758G|MAP4K4_uc010yvy.2_Silent_p.G781G|MAP4K4_uc002tbh.3_Silent_p.G703G|MAP4K4_uc002tbg.3_Silent_p.G785G|MAP4K4_uc002tbi.3_Silent_p.G588G|MAP4K4_uc010yvz.2_Silent_p.G761G|MAP4K4_uc002tbk.3_Silent_p.G240G|MAP4K4_uc021vlq.1_5'UTR|MAP4K4_uc002tbl.3_5'UTR	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	785	Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AGCAGGAAGGGGCTGACGAGT	0.572													A	102486218	G	A	102486218	2	1	154	1	0	0	0	0	0	0	0	1	9337	1219	43	2		2	MAP4K4	2	102486218	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	99292969	102486218	140713155	14	10589											
ALS2CR8	79800	broad.mit.edu	37	chr2	203806678	203806678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccataatgacggtgaagagtCaaaaaccagtgctcaagtat	16	8	9	8	1	2	3	2	2	0	1	2	3	2	3	2	1	2	2	2	1	6	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr2:203806678C>T	uc002uzo.2	+	2	333	c.53C>T	c.(52-54)tCa>tTa	p.S18L	ALS2CR8_uc002uzn.3_Intron|ALS2CR8_uc002uzm.3_Missense_Mutation_p.S18L|ALS2CR8_uc010zhy.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zhz.1_Intron|ALS2CR8_uc010ftu.1_Intron|ALS2CR8_uc010zia.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zib.1_Missense_Mutation_p.S18L|ALS2CR8_uc010zic.1_Intron|ALS2CR8_uc002uzp.2_Missense_Mutation_p.S18L	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	18										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						GGTGAAGAGTCAAAAACCAGT	0.363													T	203806678	C	T	203806678	3	4	154	1	0	0	0	0	1	0	0	0	555	838	29	2	55	2	ALS2CR8	2	203806678	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	101320460	203806678	39392695	15	10590											
ABI3BP	25890	broad.mit.edu	37	chr3	100568897	100568897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattagttaccaggtgtcGtaggctgcatttctggactg	7	14	12	8	1	2	0	1	0	1	0	3	1	2	1	1	3	2	4	1	3	3	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:100568897G>A	uc003dun.3	-	14	1452	c.1367C>T	c.(1366-1368)aCg>aTg	p.T456M	ABI3BP_uc003duo.2_Missense_Mutation_p.T498M	NM_015429	NP_056244	Q7Z7G0	TARSH_HUMAN	Homo sapiens ABI family, member 3 (NESH) binding protein (ABI3BP), mRNA.	456	Pro-rich.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACCAGGTGTCGTAGGCTGCAT	0.378													A	100568897	G	A	100568897	3	1	154	1	0	0	0	0	1	0	0	0	91	1145	40	1	1944	1	ABI3BP	3	100568897	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		100568897	97453533	16	10591											
MYH15	22989	broad.mit.edu	37	chr3	108205332	108205332	+	Frame_Shift_Del	DEL	A	A	-																															agtaactgctccacaggagcAaaagtggaagtctgagggat																										TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:108205332delA	uc003dxa.1	-	10	1030	c.973delT	c.(973-975)tgcfs	p.C325fs		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	325	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCACAGGAGCAAAAGTGGAAG	0.438													-	108205332	A	-	108205332	7	5	154	1	0	1	0	1	0	0	0	0	10110	130	5	0	4995	0	MYH15	3	108205332	Frame_Shift_Del	DEL	A	TCGA-19-2619-01A-01D-1495-08	7636435	108205332	89817098	17	10592											
ZIC1	7545	broad.mit.edu	37	chr3	147128425	147128425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggacatgtacccgcgaccgGagcagtacggccaggtgacc	9	4	15	13	4	0	1	0	1	0	0	0	4	0	3	4	4	3	3	4	4	2	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr3:147128425G>A	uc003ewe.3	+	0	1245	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	176					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CCCGCGACCGGAGCAGTACGG	0.682													A	147128425	G	A	147128425	3	1	154	1	0	0	0	0	1	0	0	0	17779	1175	41	2	528	2	ZIC1	3	147128425	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	38923093	147128425	50894005	18	10593											
POU4F2	5458	broad.mit.edu	37	chr4	147561770	147561770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatggcgcggagaagaagcGcaagcgcacgtccatcgctg	11	4	14	12	6	0	2	0	0	0	2	2	3	1	2	1	2	2	3	1	2	4	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr4:147561770G>A	uc003ikv.3	+	1	1288	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H		NM_004575	NP_004566	Q12837	PO4F2_HUMAN	Homo sapiens POU class 4 homeobox 2 (POU4F2), mRNA.	347					estrogen receptor signaling pathway|MAPKKK cascade|negative regulation of transcription from RNA polymerase II promoter	nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription	p.R347C(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)					GAGAAGAAGCGCAAGCGCACG	0.622													A	147561770	G	A	147561770	3	1	154	1	0	0	0	0	1	0	0	0	12356	1087	38	1	1046	1	POU4F2	4	147561770	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		147561770	43592506	19	10594											
ZDHHC11	79844	broad.mit.edu	37	chr5	825284	825284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgactgcaacttacccgtgCcgtcgaatccccatcctggt	7	10	9	15	3	0	1	0	1	0	0	3	2	2	1	5	1	4	1	5	1	3	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:825284C>T	uc011cma.1	-	7	1402	c.1018G>A	c.(1018-1020)Gca>Aca	p.A340T	ZDHHC11_uc010itc.3_5'Flank|ZDHHC11_uc010itd.1_Non-coding_Transcript	NM_024786	NP_079062	Q9H8X9	ZDH11_HUMAN	Homo sapiens zinc finger, DHHC-type containing 11 (ZDHHC11), mRNA.	340						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CTTACCCGTGCCGTCGAATCC	0.542													T	825284	C	T	825284	3	4	154	1	0	0	0	0	1	0	0	0	17702	739	26	2	240	2	ZDHHC11	5	825284	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		825284	180089976	20	10595											
HTR1A	3350	broad.mit.edu	37	chr5	63257205	63257205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagcacagcacgtcgagGgcgatgaacaggtcgcaggt	10	5	16	10	4	0	1	0	1	0	0	2	3	0	1	0	3	4	4	0	3	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:63257205G>A	uc011cqt.2	-	0	342	c.342C>T	c.(340-342)gcC>gcT	p.A114A		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	114					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCACGTCGAGGGCGATGAACA	0.607													A	63257205	G	A	63257205	2	1	154	1	0	0	0	0	0	0	0	1	7494	1219	43	2		2	HTR1A	5	63257205	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	62431921	63257205	117658055	21	10596											
PCDHAC2	56143	broad.mit.edu	37	chr5	140203141	140203141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtggtggcgaaggtgcGcgcagtggaccctgattcgg	6	7	17	11	5	0	1	0	1	0	0	1	3	0	2	2	5	1	1	2	5	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:140203141G>A	uc003lhl.2	+	0	1781	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.R594H|PCDHAC2_uc003lhj.1_Missense_Mutation_p.R594H	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	608	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGAAGGTGCGCGCAGTGGAC	0.697													A	140203141	G	A	140203141	3	1	154	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140203141	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	76945936	140203141	40712119	22	10597											
RGS14	10636	broad.mit.edu	37	chr5	176794018	176794018	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccggccggacatgtttCgggcacagcagcttcaggtg	7	7	14	13	3	1	0	1	0	0	0	2	1	1	1	3	4	3	4	3	4	0	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr5:176794018C>A	uc003mgh.3	+	4	648	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	RGS14_uc003mgf.3_Silent_p.R156R|RGS14_uc003mgg.1_Silent_p.R3R|RGS14_uc003mgi.3_5'Flank	NM_006480	NP_006471	O43566	RGS14_HUMAN	Homo sapiens regulator of G-protein signaling 14 (RGS14), mRNA.	156	RGS.				chromosome segregation|long-term memory|long-term synaptic potentiation|negative regulation of ERK1 and ERK2 cascade|negative regulation of MAP kinase activity|negative regulation of synaptic plasticity|nucleocytoplasmic transport|platelet-derived growth factor receptor signaling pathway|positive regulation of neurogenesis|regulation of DNA-dependent transcription in response to stress|regulation of G-protein coupled receptor protein signaling pathway|response to oxidative stress|spindle organization|visual learning|zygote asymmetric cell division	cell junction|centrosome|dendritic spine|microtubule|PML body|postsynaptic density|postsynaptic membrane|spindle pole	GDP-dissociation inhibitor activity|GTPase activator activity|microtubule binding|receptor signaling complex scaffold activity|receptor signaling protein activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(3)|upper_aerodigestive_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGACATGTTTCGGGCACAGCA	0.662													A	176794018	C	A	176794018	2	1	154	1	0	0	0	0	0	0	0	1	13386	875	31	4		4	RGS14	5	176794018	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	36590877	176794018	4121242	23	10598											
PTK7	5754	broad.mit.edu	37	chr6	43109925	43109925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaggatgcacatcttccaGaatggctccctggtgatcca	10	9	10	12	0	1	2	0	1	1	1	4	4	4	3	3	3	1	2	3	3	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43109925G>A	uc011dve.1	+	12	2001	c.1959G>A	c.(1957-1959)caG>caA	p.Q653Q	PTK7_uc003oub.1_Silent_p.Q645Q|PTK7_uc003ouc.1_Intron|PTK7_uc003oud.1_Silent_p.Q605Q|PTK7_uc003oue.1_Silent_p.Q515Q|PTK7_uc003ouf.1_Non-coding_Transcript|PTK7_uc003oug.1_Non-coding_Transcript|PTK7_uc010jyj.1_Intron	NM_002821	NP_002812	Q13308	PTK7_HUMAN	Homo sapiens PTK7 protein tyrosine kinase 7 (PTK7), transcript variant PTK7-1, mRNA.	645	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACATCTTCCAGAATGGCTCCC	0.642													A	43109925	G	A	43109925	2	1	154	1	0	0	0	0	0	0	0	1	12851	933	33	2		2	PTK7	6	43109925	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		43109925	128005142	24	10599											
SRF	6722	broad.mit.edu	37	chr6	43141721	43141721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcaaggcactgattcagaCctgcctcaactcgccagact	10	7	9	15	2	2	3	2	1	0	2	3	3	2	3	3	2	2	2	3	2	2	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:43141721C>T	uc003oui.3	+	1	1125	c.650C>T	c.(649-651)aCc>aTc	p.T217I	SRF_uc011dvf.2_Missense_Mutation_p.T13I	NM_003131	NP_003122	P11831	SRF_HUMAN	Homo sapiens serum response factor (c-fos serum response element-binding transcription factor) (SRF), mRNA.	217	Involved in dimerization.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CTGATTCAGACCTGCCTCAAC	0.557													T	43141721	C	T	43141721	3	4	154	1	0	0	0	0	1	0	0	0	15239	507	18	2	656	2	SRF	6	43141721	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	31796	43141721	127973346	25	10600											
DST	667	broad.mit.edu	37	chr6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacatcatacctggcGtcttttcaaatagtcaagtg	13	13	6	9	1	5	0	4	0	1	0	5	0	5	0	1	1	2	0	1	1	6	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E146K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343													A	56566691	G	A	56566691	3	1	154	1	0	0	0	0	1	0	0	0	4822	1160	40	1		1	DST	6	56566691	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	13424970	56566691	114548376	26	10601											
PLG	5340	broad.mit.edu	37	chr6	161127557	161127557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaaatgtgaggaggaCgaagaattcacctgcaggta	15	6	13	7	1	1	2	1	1	0	1	1	5	1	4	1	3	2	4	1	3	5	2	rs144100362		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr6:161127557C>T	uc003qtm.4	+	1	280	c.168C>T	c.(166-168)gaC>gaT	p.D56D	PLG_uc021zhr.1_Silent_p.D56D	NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	56	PAN.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GTGAGGAGGACGAAGAATTCA	0.413													T	161127557	C	T	161127557	2	4	154	1	0	0	0	0	0	0	0	1	12163	535	19	1		1	PLG	6	161127557	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	104560866	161127557	9987510	27	10602											
ZNF107	51427	broad.mit.edu	37	chr7	64168371	64168371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcaaagtttttaaccaGtcctcaaaccttactacaca	14	11	4	12	0	1	0	1	0	0	0	2	0	2	0	3	1	4	2	3	1	5	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:64168371G>A	uc003ttd.3	+	6	2475	c.1689G>A	c.(1687-1689)caG>caA	p.Q563Q	ZNF107_uc003tte.3_Silent_p.Q563Q	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	563					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTTTAACCAGTCCTCAAACC	0.348													A	64168371	G	A	64168371	2	1	154	1	0	0	0	0	0	0	0	1	17816	1020	36	2		2	ZNF107	7	64168371	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		64168371	94970292	28	10603											
PCLO	27445	broad.mit.edu	37	chr7	82581607	82581607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagtgattccctgggataCggtgctatcagtccatccat	9	12	9	11	1	2	1	2	1	0	0	5	2	5	2	3	2	2	1	3	2	2	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:82581607C>T	uc003uhx.2	-	4	8951	c.8662G>A	c.(8662-8664)Gta>Ata	p.V2888I	PCLO_uc003uhv.2_Missense_Mutation_p.V2888I|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2819					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.T2887T(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCCTGGGATACGGTGCTATCA	0.463													T	82581607	C	T	82581607	3	4	154	1	0	0	0	0	1	0	0	0	11659	536	19	1	6867	1	PCLO	7	82581607	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	18413236	82581607	76557056	29	10604											
COL1A2	1278	broad.mit.edu	37	chr7	94043012	94043012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatttttagggtgctccagGtcctgatggaaacaatggtg	10	13	12	6	0	0	1	0	1	0	0	2	2	2	2	2	4	2	1	2	4	4	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr7:94043012G>T	uc003ung.1	+	26	2039	c.1568G>T	c.(1567-1569)gGt>gTt	p.G523V	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	523					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G523S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGCTCCAGGTCCTGATGGA	0.438										HNSCC(75;0.22)			T	94043012	G	T	94043012	3	4	154	1	0	0	0	0	1	0	0	0	3709	1261	44	4	1674	4	COL1A2	7	94043012	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	11461405	94043012	65095651	30	10605											
INTS10	55174	broad.mit.edu	37	chr8	19690804	19690804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctcatccagctggcgaCgtgccactttgcgctagggg	5	8	15	13	4	1	0	1	0	0	0	2	1	2	0	2	4	3	3	2	4	1	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:19690804C>T	uc022asn.1	+	11	1636	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M	INTS10_uc003wzj.3_Missense_Mutation_p.T501M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	501					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		CAGCTGGCGACGTGCCACTTT	0.602													T	19690804	C	T	19690804	3	4	154	1	0	0	0	0	1	0	0	0	7834	536	19	1	1548	1	INTS10	8	19690804	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		19690804	126673218	31	10606											
ENPP2	5168	broad.mit.edu	37	chr8	120598445	120598445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgcaacatgccatctgcGttccaccaataaatggatat	12	11	6	12	1	1	0	0	0	1	0	2	1	2	1	4	1	4	2	4	1	5	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr8:120598445G>A	uc003yos.2	-	15	1590	c.1504C>T	c.(1504-1506)Cgc>Tgc	p.R502C	ENPP2_uc011lic.2_5'Flank|ENPP2_uc003yor.2_Missense_Mutation_p.R89C|ENPP2_uc010mdd.2_Missense_Mutation_p.R450C|ENPP2_uc003yot.2_Missense_Mutation_p.R450C	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	450					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TGCCATCTGCGTTCCACCAAT	0.413													A	120598445	G	A	120598445	3	1	154	1	0	0	0	0	1	0	0	0	5171	1145	40	1	1366	1	ENPP2	8	120598445	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	100907641	120598445	25765577	32	10607											
IFNB1	3456	broad.mit.edu	37	chr9	21077338	21077338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taacctgtaagtctgttaatGaagtaaaagttccttaggat	14	14	8	5	0	1	1	0	1	1	0	2	2	2	2	2	1	1	4	2	1	7	6			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr9:21077338G>A	uc003zok.3	-	0	606	c.531C>T	c.(529-531)ttC>ttT	p.F177F		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	177					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	GTCTGTTAATGAAGTAAAAGT	0.453													A	21077338	G	A	21077338	2	1	154	1	0	0	0	0	0	0	0	1	7604	1281	45	2		2	IFNB1	9	21077338	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		21077338	120136093	33	10608											
AKR1E2	83592	broad.mit.edu	37	chr10	4873008	4873008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaaggcgctgtaagaCgggaggatctgttcattgcc	10	9	14	8	2	3	1	2	0	1	1	3	4	3	4	1	4	1	3	1	4	3	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:4873008C>T	uc001ihi.3	+	1	296	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	AKR1E2_uc010qam.1_Missense_Mutation_p.R61W|AKR1E2_uc001ihh.1_Missense_Mutation_p.R61W|AKR1E2_uc001ihj.3_Non-coding_Transcript|AKR1E2_uc001ihk.3_Missense_Mutation_p.R61W|AKR1E2_uc009xhw.3_Missense_Mutation_p.R61W	NM_001040177	NP_001035267	Q96JD6	AKCL2_HUMAN	Homo sapiens aldo-keto reductase family 1, member E2 (AKR1E2), mRNA.	61						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R61W(2)|p.R61L(1)|p.R61R(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CGCTGTAAGACGGGAGGATCT	0.507													T	4873008	C	T	4873008	3	4	154	1	0	0	0	0	1	0	0	0	474	527	19	1	187	1	AKR1E2	10	4873008	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		4873008	130661739	34	10609											
ITIH2	3698	broad.mit.edu	37	chr10	7762869	7762869	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagatttcttcatgttccCgacacatttgaaggccattt	9	15	7	10	1	2	2	1	2	1	1	3	4	3	2	2	1	0	1	2	1	1	5	rs144114794		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:7762869C>T	uc001ijs.3	+	6	843	c.681C>T	c.(679-681)ccC>ccT	p.P227P		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	227					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.P227P(2)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TTCATGTTCCCGACACATTTG	0.453													T	7762869	C	T	7762869	2	4	154	1	0	0	0	0	0	0	0	1	7962	639	23	1		1	ITIH2	10	7762869	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	2889861	7762869	127771878	35	10610											
C10orf68	79741	broad.mit.edu	37	chr10	33000595	33000595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcttaaacatcaagatTcagtgtcaaaaatccaagtg	16	11	6	8	0	3	1	3	0	0	1	4	1	4	1	1	0	2	1	1	0	7	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr10:33000595T>C	uc001iwm.1	+	4	591	c.355T>C	c.(355-357)Tca>Cca	p.S119P	C10orf68_uc001iwl.1_Missense_Mutation_p.S151P|C10orf68_uc001iwn.4_Missense_Mutation_p.S143P|C10orf68_uc010qei.1_Missense_Mutation_p.S70P	NM_024688	NP_078964	Q9H943	CJ068_HUMAN	Homo sapiens chromosome 10 open reading frame 68 (C10orf68), mRNA.	143										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ACATCAAGATTCAGTGTCAAA	0.308													C	33000595	T	C	33000595	3	2	154	1	0	0	0	0	1	0	0	0	1624	1783	62	3	445	3	C10orf68	10	33000595	Missense_Mutation	SNP	T	TCGA-19-2619-01A-01D-1495-08	25237726	33000595	102534152	36	10611											
NAV3	89795	broad.mit.edu	37	chr12	78591133	78591133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taatcttcatcatgtgggctCtctgagtgatatcttcaatg	9	16	8	8	0	6	2	3	2	3	0	7	2	6	2	0	1	0	1	0	1	3	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:78591133C>G	uc001syp.3	+	34	6571	c.6398C>G	c.(6397-6399)tCt>tGt	p.S2133C	NAV3_uc001syo.3_Missense_Mutation_p.S2111C|NAV3_uc010sub.2_Missense_Mutation_p.S1590C|NAV3_uc009zsf.3_Missense_Mutation_p.S942C	NM_014903	NP_055718	Q8IVL0	NAV3_HUMAN	Homo sapiens neuron navigator 3 (NAV3), mRNA.	2133						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T2133S(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CATGTGGGCTCTCTGAGTGAT	0.328										HNSCC(70;0.22)			G	78591133	C	G	78591133	3	3	154	1	0	0	0	0	1	0	0	0	10261	913	32	4	6466	4	NAV3	12	78591133	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		78591133	55260762	37	10612											
PAWR	5074	broad.mit.edu	37	chr12	80014954	80014954	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtttccgctctttctGccctgcttcatcatcttcgt	2	19	5	15	3	6	0	2	0	4	0	9	0	7	0	2	0	2	3	2	0	0	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr12:80014954G>A	uc001syx.3	-	2	836	c.550C>T	c.(550-552)Cag>Tag	p.Q184*		NM_002583	NP_002574	Q96IZ0	PAWR_HUMAN	Homo sapiens PRKC, apoptosis, WT1, regulator (PAWR), mRNA.	184	Selective for apoptosis induction in cancer cells (SAC).				actin filament bundle assembly|apoptosis|induction of apoptosis|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	actin binding|enzyme binding|leucine zipper domain binding|transcription corepressor activity			NS(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						CGCTCTTTCTGCCCTGCTTCA	0.363													A	80014954	G	A	80014954	4	1	154	1	0	0	0	0	0	1	0	0	11553	1328	46	2	492	2	PAWR	12	80014954	Nonsense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	1423821	80014954	53836941	38	10613											
FRY	10129	broad.mit.edu	37	chr13	32735289	32735289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaattctaggggtgagaGaaagccaaaaatagatcttt	15	12	9	5	0	3	3	0	1	3	2	3	4	3	3	1	2	1	0	1	2	6	6			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:32735289G>A	uc001utx.3	+	16	2289	c.1793G>A	c.(1792-1794)aGa>aAa	p.R598K	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	598					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGGGGTGAGAGAAAGCCAAAA	0.358													A	32735289	G	A	32735289	3	1	154	1	0	0	0	0	1	0	0	0	6115	942	33	2	1859	2	FRY	13	32735289	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08		32735289	82434589	39	10614											
FARP1	10160	broad.mit.edu	37	chr13	99042246	99042246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggaattcctgatggcCagtcgggatttctgcaagtc	8	12	11	10	1	1	1	0	1	1	0	4	3	2	3	3	3	1	1	3	3	2	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr13:99042246C>T	uc001vnh.3	+	9	1130	c.891C>T	c.(889-891)gcC>gcT	p.A297A	FARP1_uc001vnj.3_Silent_p.A297A	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	297	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TCCTGATGGCCAGTCGGGATT	0.443													T	99042246	C	T	99042246	2	4	154	1	0	0	0	0	0	0	0	1	5725	581	21	2		2	FARP1	13	99042246	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	66306957	99042246	16127632	40	10615											
CHD2	1106	broad.mit.edu	37	chr15	93567832	93567834	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcacccccttctcagaaatCtcctcacgattccaagtcac																										TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr15:93567832_93567834delCTC	uc002bsp.3	+	38	5959_5961	c.5384_5386delCTC	c.(5383-5388)tctcct>tct	p.P1796del		NM_001271	NP_001262	O14647	CHD2_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 2 (CHD2), transcript variant 1, mRNA.	1796					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TCTCAGAAATCTCCTCACGATTC	0.468													-	93567834	CTC	-	93567832	7	5	154	1	0	1	0	1	0	0	0	0	3355	913	32	0	5538	0	CHD2	15	93567832	In_Frame_Del	DEL	CTC	TCGA-19-2619-01A-01D-1495-08		93567832	8963560	41	10616											
UBFD1	56061	broad.mit.edu	37	chr16	23570883	23570883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccagtggggccaagatCatggtggttggctccaccat	8	9	14	10	0	1	2	1	1	0	1	2	2	2	2	4	5	0	2	4	5	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr16:23570883C>T	uc002dlv.3	+	2	652	c.450C>T	c.(448-450)atC>atT	p.I150I	EARS2_uc002dls.4_5'Flank|EARS2_uc002dlt.4_5'Flank|EARS2_uc002dlu.3_5'Flank	NM_019116	NP_061989	O14562	UBFD1_HUMAN	Homo sapiens ubiquitin family domain containing 1 (UBFD1), mRNA.	150	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGGCCAAGATCATGGTGGTTG	0.502													T	23570883	C	T	23570883	2	4	154	1	0	0	0	0	0	0	0	1	16986	816	29	2		2	UBFD1	16	23570883	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08		23570883	66783870	42	10617											
RNMTL1	55178	broad.mit.edu	37	chr17	695048	695048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagtcaagattggctGcctcatgttgaggttcagag	9	10	14	8	0	3	3	3	1	0	2	3	4	3	4	2	3	2	3	2	3	1	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:695048G>A	uc002frw.3	+	3	1108	c.1002G>A	c.(1000-1002)ctG>ctA	p.L334L		NM_018146	NP_060616	Q9HC36	RMTL1_HUMAN	Homo sapiens RNA methyltransferase like 1 (RNMTL1), mRNA.	334					RNA processing		protein binding|RNA binding|RNA methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0219)		AAGATTGGCTGCCTCATGTTG	0.552													A	695048	G	A	695048	2	1	154	1	0	0	0	0	0	0	0	1	13598	1306	46	2		2	RNMTL1	17	695048	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		695048	80500162	43	10618											
ALDH3A1	218	broad.mit.edu	37	chr17	19641725	19641725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggcggtgagagaaagtctCgaagctcttcttgccatggt	8	10	14	9	3	3	2	0	1	3	1	4	4	3	2	1	3	2	1	1	3	2	2	rs113168621		TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:19641725C>T	uc002gwk.3	-	7	1872	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ALDH3A1_uc010cqu.3_Missense_Mutation_p.E420K|ALDH3A1_uc010vzd.2_Missense_Mutation_p.E420K|ALDH3A1_uc002gwj.3_Missense_Mutation_p.E420K|ALDH3A1_uc010cqv.3_Missense_Mutation_p.E419K|ALDH3A1_uc002gwl.1_Missense_Mutation_p.E347K			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	420					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GAGAAAGTCTCGAAGCTCTTC	0.612													T	19641725	C	T	19641725	3	4	154	1	0	0	0	0	1	0	0	0	497	893	31	1	111	1	ALDH3A1	17	19641725	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	18946677	19641725	61553485	44	10619											
GAS2L2	246176	broad.mit.edu	37	chr17	34072169	34072169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcctgtggtctctccGgggccgaatcctgggtctca	4	10	13	14	2	3	0	2	0	2	0	7	1	5	0	4	5	0	0	4	5	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:34072169G>A	uc002hjv.2	-	5	2375	c.2347C>T	c.(2347-2349)Cgg>Tgg	p.R783W		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	783					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGTCTCTCCGGGGCCGAATC	0.612													A	34072169	G	A	34072169	3	1	154	1	0	0	0	0	1	0	0	0	6301	1115	39	1	299	1	GAS2L2	17	34072169	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	14430444	34072169	47123041	45	10620											
USH1G	124590	broad.mit.edu	37	chr17	72915620	72915620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcacggcccccaagatcttCtttcggggccccagtgggac	6	8	11	16	2	3	1	1	0	2	1	4	2	3	2	4	4	0	0	4	4	1	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr17:72915620C>T	uc002jme.1	-	1	1494	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	USH1G_uc010wro.1_Silent_p.K334K	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	437	SAM.				equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCAAGATCTTCTTTCGGGGCC	0.682													T	72915620	C	T	72915620	2	4	154	1	0	0	0	0	0	0	0	1	17137	912	32	2		2	USH1G	17	72915620	Silent	SNP	C	TCGA-19-2619-01A-01D-1495-08	38843451	72915620	8279590	46	10621											
INO80C	125476	broad.mit.edu	37	chr18	33060423	33060423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcgatgcttaccacaaaGttgggatccttaaatggcaa	12	11	8	10	1	0	0	0	0	0	0	2	2	1	1	3	2	2	3	3	2	5	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:33060423G>A	uc010dmt.3	-	3	486	c.369C>T	c.(367-369)aaC>aaT	p.N123N	INO80C_uc002kyw.1_Silent_p.N87N|INO80C_uc002kyx.4_Silent_p.N32N|INO80C_uc002kyy.4_Silent_p.N87N	NM_001098817	NP_001092287	Q6PI98	IN80C_HUMAN	Homo sapiens INO80 complex subunit C (INO80C), transcript variant 1, mRNA.	87					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						TTACCACAAAGTTGGGATCCT	0.483													A	33060423	G	A	33060423	2	1	154	1	0	0	0	0	0	0	0	1	7806	1020	36	2		2	INO80C	18	33060423	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		33060423	45016825	47	10622											
SERPINB3	6318	broad.mit.edu	37	chr18	61310407	61310407	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcacatgatatgttgcAgctttttctgtggtgttctc	6	18	9	8	0	3	2	1	2	2	0	4	2	3	2	0	1	2	4	0	1	1	5			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:61310407A>T	uc002ljf.3	-	2	296	c.210T>A	c.(208-210)gcT>gcA	p.A70A	SERPINB3_uc002lje.3_Silent_p.A70A|SERPINB3_uc002ljg.3_Intron	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	70					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GATATGTTGCAGCTTTTTCTG	0.403													T	61310407	A	T	61310407	2	4	154	1	0	0	0	0	0	0	0	1	14195	175	7	5		5	SERPINB3	18	61310407	Silent	SNP	A	TCGA-19-2619-01A-01D-1495-08	28249984	61310407	16766841	48	10623											
CNDP1	84735	broad.mit.edu	37	chr18	72223637	72223637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttctcctcaccctcccCgcccccggcgctgttagaga	5	9	8	19	3	2	1	1	0	1	1	4	2	3	1	6	1	0	3	6	1	1	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr18:72223637C>T	uc002llq.3	+	1	300	c.89C>T	c.(88-90)cCg>cTg	p.P30L		NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	30					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.S29F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TCACCCTCCCCGCCCCCGGCG	0.537													T	72223637	C	T	72223637	3	4	154	1	0	0	0	0	1	0	0	0	3624	652	23	1	95	1	CNDP1	18	72223637	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	10913230	72223637	5853611	49	10624											
SAFB2	9667	broad.mit.edu	37	chr19	5587916	5587916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctagccgcgcctgcGtccatggcaccctgccaggc	4	6	12	19	4	0	0	0	0	0	0	2	0	2	0	6	3	3	2	6	3	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:5587916G>A	uc002mcd.3	-	18	2813	c.2601C>T	c.(2599-2601)gaC>gaT	p.D867D		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	867	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CCGCGCCTGCGTCCATGGCAC	0.672													A	5587916	G	A	5587916	2	1	154	1	0	0	0	0	0	0	0	1	13898	1136	40	1		1	SAFB2	19	5587916	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08		5587916	53541067	50	10625											
FBN3	84467	broad.mit.edu	37	chr19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacccagcagtgttgaCgcaacgcccgttgggacaga	12	5	13	11	3	0	3	0	1	0	2	0	5	0	4	2	1	2	4	2	1	2	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:8190851C>T	uc002mjf.3	-	20	2673	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	886	EGF-like 11; 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						GCAGTGTTGACGCAACGCCCG	0.637													T	8190851	C	T	8190851	3	4	154	1	0	0	0	0	1	0	0	0	5753	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	2602935	8190851	50938132	51	10626											
MYH14	79784	broad.mit.edu	37	chr19	50792885	50792885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggctggtgaagagaggCggaggcagctggccaagcag	11	4	19	7	1	0	3	0	2	0	1	0	5	0	4	1	6	2	4	1	6	2	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr19:50792885C>T	uc010enu.1	+	34	4992	c.4945C>T	c.(4945-4947)Cgg>Tgg	p.R1649W	MYH14_uc002prq.1_Missense_Mutation_p.R1616W|MYH14_uc002prr.1_Missense_Mutation_p.R1608W|MYH14_uc010ycb.2_5'UTR|MYH14_uc002prs.1_5'UTR	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1608					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		TGAAGAGAGGCGGAGGCAGCT	0.612													T	50792885	C	T	50792885	3	4	154	1	0	0	0	0	1	0	0	0	10109	759	27	1	5079	1	MYH14	19	50792885	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	42602034	50792885	8336098	52	10627											
RASSF2	9770	broad.mit.edu	37	chr20	4776462	4776462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgtctctcctcactcaccCctgagcccccaggttacagc	6	8	6	21	1	3	1	2	1	1	0	5	1	4	1	6	1	3	1	6	1	1	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr20:4776462C>T	uc002wld.3	-	4	341	c.287_splice	c.e4+1	p.G96_splice	RASSF2_uc002wlc.3_5'Flank|RASSF2_uc002wlf.3_Splice_Site_p.G96_splice	NM_170774	NP_739580	P50749	RASF2_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 2 (RASSF2), transcript variant 2, mRNA.	96					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						CTCACTCACCCCTGAGCCCCC	0.597													T	4776462	C	T	4776462	3	4	154	1	0	0	0	0	1	0	0	0	13174	637	22	2	726	2	RASSF2	20	4776462	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		4776462	58249058	53	10628											
TXNRD2	10587	broad.mit.edu	37	chr22	19865620	19865620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgggacttacttgatccCcagagcaaatccttgagtaa	11	10	8	12	1	0	3	0	2	0	1	3	4	2	4	4	1	2	2	4	1	3	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:19865620C>T	uc021wlj.1	-	15	1471	c.1438G>A	c.(1438-1440)Ggg>Agg	p.G480R	TXNRD2_uc002zqo.1_Non-coding_Transcript|TXNRD2_uc002zqr.1_Missense_Mutation_p.G479R|TXNRD2_uc002zqj.1_Non-coding_Transcript|TXNRD2_uc002zqq.1_Missense_Mutation_p.G130R	NM_006440		Q9NNW7	TRXR2_HUMAN	Homo sapiens thioredoxin reductase 2 (TXNRD2), nuclear gene encoding mitochondrial protein, mRNA.	480					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TACTTGATCCCCAGAGCAAAT	0.597													T	19865620	C	T	19865620	3	4	154	1	0	0	0	0	1	0	0	0	16910	623	22	2	144	2	TXNRD2	22	19865620	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		19865620	31438946	54	10629											
SMTN	6525	broad.mit.edu	37	chr22	31492853	31492853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggctctgctgtcagcactGttaccaagactgagcggctc	8	10	11	12	1	2	2	1	1	1	1	3	2	2	2	1	2	4	5	1	2	2	1			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chr22:31492853G>A	uc003ajl.2	+	13	2237	c.1996G>A	c.(1996-1998)Gtt>Att	p.V666I	SMTN_uc003ajk.2_Missense_Mutation_p.V666I|SMTN_uc003ajm.2_Missense_Mutation_p.V666I|SMTN_uc011ale.2_Missense_Mutation_p.V751I|SMTN_uc011alf.2_Missense_Mutation_p.V722I|SMTN_uc003ajn.2_Missense_Mutation_p.V689I|SMTN_uc011alg.2_Missense_Mutation_p.V122I|SMTN_uc003ajo.2_Intron|SMTN_uc011alh.1_Non-coding_Transcript|SMTN_uc010gwe.2_Intron	NM_006932	NP_008863	P53814	SMTN_HUMAN	Homo sapiens smoothelin (SMTN), transcript variant 3, mRNA.	666					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						TGTCAGCACTGTTACCAAGAC	0.682													A	31492853	G	A	31492853	3	1	154	1	0	0	0	0	1	0	0	0	14908	1377	48	2	2046	2	SMTN	22	31492853	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	11627233	31492853	19811713	55	10630											
NHS	4810	broad.mit.edu	37	chrX	17745612	17745612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggtcgaatcctccacCgtcccttgcaattacaccaa	11	9	6	15	2	0	1	0	1	0	0	4	2	3	1	5	1	2	1	5	1	4	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:17745612C>T	uc011mix.2	+	6	3724	c.3386C>T	c.(3385-3387)cCg>cTg	p.P1129L	NHS_uc004cxx.3_Missense_Mutation_p.P1108L|NHS_uc004cxy.3_Missense_Mutation_p.P952L|NHS_uc004cxz.3_Missense_Mutation_p.P931L|NHS_uc004cya.3_Missense_Mutation_p.P831L	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	1108						nucleus		p.P1108L(1)|p.P952L(1)		breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AATCCTCCACCGTCCCTTGCA	0.408													T	17745612	C	T	17745612	3	4	154	1	0	0	0	0	1	0	0	0	10487	652	23	1	3450	1	NHS	23	17745612	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08		17745612	137524948	56	10631											
TIMM17B	10245	broad.mit.edu	37	chrX	48751096	48751096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggggtcctccaggaatggGggcgctggagaagggagact	8	6	19	8	1	0	2	0	0	0	2	2	5	2	3	2	7	0	1	2	7	2	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:48751096G>A	uc004dla.2	-	7	734	c.585C>T	c.(583-585)ccC>ccT	p.P195P	TIMM17B_uc004dlc.2_Silent_p.P145P	NM_001167947	NP_001161419	O60830	TI17B_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 17 homolog B (yeast) (TIMM17B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	145					protein targeting to mitochondrion	integral to membrane|microtubule cytoskeleton|mitochondrial inner membrane presequence translocase complex	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)	6						CCAGGAATGGGGGCGCTGGAG	0.617													A	48751096	G	A	48751096	2	1	154	1	0	0	0	0	0	0	0	1	16009	1219	43	2		2	TIMM17B	23	48751096	Silent	SNP	G	TCGA-19-2619-01A-01D-1495-08	31005484	48751096	106519464	57	10632											
PCDH11X	27328	broad.mit.edu	37	chrX	91132985	91132985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacttctatgtcccagaaaaCcttccaaggcatggtacagt	13	10	7	11	0	1	1	0	0	1	1	3	1	3	1	3	2	3	2	3	2	6	4			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:91132985C>A	uc004efk.2	+	1	2591	c.1746C>A	c.(1744-1746)aaC>aaA	p.N582K	PCDH11X_uc004efl.2_Missense_Mutation_p.N582K|PCDH11X_uc010nmv.2_Missense_Mutation_p.N582K|PCDH11X_uc004efm.2_Missense_Mutation_p.N582K|PCDH11X_uc004efn.2_Missense_Mutation_p.N582K|PCDH11X_uc004efo.2_Missense_Mutation_p.N582K|PCDH11X_uc004efh.2_Missense_Mutation_p.N582K|PCDH11X_uc004efj.1_Missense_Mutation_p.N582K	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	582	Cadherin 6.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TCCCAGAAAACCTTCCAAGGC	0.393													A	91132985	C	A	91132985	3	1	154	1	0	0	0	0	1	0	0	0	11584	506	18	4	1752	4	PCDH11X	23	91132985	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	42381889	91132985	64137575	58	10633											
DOCK11	139818	broad.mit.edu	37	chrX	117722099	117722099	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttttccctgctataGattgtattacttcttcatat	7	22	4	8	0	2	1	1	0	1	1	3	1	3	1	1	0	2	3	1	0	5	11			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:117722099G>T	uc004eqp.2	+	17	1859	c.1796_splice	c.e17-1	p.N599_splice	DOCK11_uc004eqq.2_Splice_Site_p.N365_splice	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	599					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CCCTGCTATAGATTGTATTAC	0.318													T	117722099	G	T	117722099	5	4	154	1	0	0	0	0	0	0	1	0	4725	956	33	4	1861	4	DOCK11	23	117722099	Splice_Site	SNP	G	TCGA-19-2619-01A-01D-1495-08	26589114	117722099	37548461	59	10634											
RNF113A	7737	broad.mit.edu	37	chrX	119004909	119004909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccatgcttgtaatctgaaCggtcatggaggaatttgcag	11	11	11	8	1	2	1	1	1	1	0	2	3	2	3	1	3	3	3	1	3	3	3			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:119004909C>T	uc004esb.3	-	0	883	c.668G>A	c.(667-669)cGt>cAt	p.R223H	NDUFA1_uc004esc.4_5'Flank	NM_006978	NP_008909	O15541	R113A_HUMAN	Homo sapiens ring finger protein 113A (RNF113A), mRNA.	223							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						GTAATCTGAACGGTCATGGAG	0.522													T	119004909	C	T	119004909	3	4	154	1	0	0	0	0	1	0	0	0	13518	536	19	1	367	1	RNF113A	23	119004909	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	1282810	119004909	36265651	60	10635											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220576	130220576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggatgcactactttctgatCcagtggaaacctctgctgaa	11	11	9	10	0	2	2	0	2	2	0	3	4	3	4	2	2	4	2	2	2	3	2			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:130220576C>T	uc004evz.3	+	10	1768	c.1423C>T	c.(1423-1425)Cca>Tca	p.P475S	ARHGAP36_uc004ewa.3_Missense_Mutation_p.P463S|ARHGAP36_uc004ewb.3_Missense_Mutation_p.P444S|ARHGAP36_uc004ewc.3_Missense_Mutation_p.P339S	NM_144967	NP_659404	Q6ZRI8	RHG36_HUMAN	Homo sapiens Rho GTPase activating protein 36 (ARHGAP36), mRNA.	475					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						ACTTTCTGATCCAGTGGAAAC	0.478													T	130220576	C	T	130220576	3	4	154	1	0	0	0	0	1	0	0	0	886	855	30	2	1461	2	ARHGAP36	23	130220576	Missense_Mutation	SNP	C	TCGA-19-2619-01A-01D-1495-08	11215667	130220576	25049984	61	10636											
CTAG2	30848	broad.mit.edu	37	chrX	153881755	153881755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccatcagcatcgcccGtcgaaccccctgtgccctgg	5	7	11	18	3	1	0	1	0	0	0	3	1	1	0	5	2	3	1	5	2	1	0			TCGA-19-2619-01A-01D-1495-08	TCGA-19-2619-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b765a4c7-4fe8-444c-95bd-6a4d03af1432	f4f9cd59-cdbd-4ee2-908b-31bb8aa6750a	g.chrX:153881755G>A	uc004fmi.2	-	0	99	c.35C>T	c.(34-36)aCg>aTg	p.T12M	CTAG2_uc004fmh.2_Missense_Mutation_p.T12M	NM_020994	NP_066274	O75638	CTAG2_HUMAN	Homo sapiens cancer/testis antigen 2 (CTAG2), transcript variant 2, mRNA.	12	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGCATCGCCCGTCGAACCCCC	0.706													A	153881755	G	A	153881755	3	1	154	1	0	0	0	0	1	0	0	0	4024	1145	40	1	744	1	CTAG2	23	153881755	Missense_Mutation	SNP	G	TCGA-19-2619-01A-01D-1495-08	23661179	153881755	1388805	62	10637											
PTCHD2	57540	broad.mit.edu	37	chr1	11562051	11562051	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctactcctactgctcGccccccagctcgctcatgac	5	9	7	20	2	1	1	1	1	0	0	5	1	3	1	5	1	4	4	5	1	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:11562051G>A	uc001ash.4	+	1	1140	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S	PTCHD2_uc001asi.1_Silent_p.S334S	NM_020780	NP_065831	Q9P2K9	PTHD2_HUMAN	Homo sapiens patched domain containing 2 (PTCHD2), mRNA.	334					cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-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)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CCTACTGCTCGCCCCCCAGCT	0.627													A	11562051	G	A	11562051	2	1	155	1	0	0	0	0	0	0	0	1	12818	1074	38	1		1	PTCHD2	1	11562051	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08		11562051	237688570	1	10638											
LRRC8B	23507	broad.mit.edu	37	chr1	90048973	90048973	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcagaaggacatcatttAtagagtatatctgaaacaga	17	9	10	5	0	2	4	1	1	1	3	2	6	2	6	0	2	2	2	0	2	6	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:90048973A>G	uc001dni.3	+	6	1271	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	LRRC8B_uc001dnh.3_Missense_Mutation_p.Y255C|LRRC8B_uc001dnj.3_Missense_Mutation_p.Y255C	NM_001134476	NP_056165	Q6P9F7	LRC8B_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member B (LRRC8B), transcript variant 2, mRNA.	255						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GACATCATTTATAGAGTATAT	0.383													G	90048973	A	G	90048973	3	3	155	1	0	0	0	0	1	0	0	0	9092	449	16	3	766	3	LRRC8B	1	90048973	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	78486922	90048973	159201648	2	10639											
GPR61	83873	broad.mit.edu	37	chr1	110086040	110086040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcctggccatcctctcGgtgtcagccatcaatgtgga	7	10	11	13	1	4	0	3	0	1	0	6	1	5	1	4	3	2	0	4	3	1	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:110086040G>A	uc021orh.1	+	0	396	c.396G>A	c.(394-396)tcG>tcA	p.S132S	GPR61_uc001dxy.2_Silent_p.S132S	NM_031936	NP_114142	Q9BZJ8	GPR61_HUMAN	Homo sapiens G protein-coupled receptor 61 (GPR61), mRNA.	132						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCATCCTCTCGGTGTCAGCCA	0.607													A	110086040	G	A	110086040	2	1	155	1	0	0	0	0	0	0	0	1	6756	1103	39	1		1	GPR61	1	110086040	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	20037067	110086040	139164581	3	10640											
TTF2	8458	broad.mit.edu	37	chr1	117618058	117618058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggacccctcaacaaggaGtacacgaactgggaggctaa	13	4	14	10	1	1	0	1	0	0	0	1	4	1	3	2	5	3	2	2	5	5	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:117618058G>A	uc001egy.3	+	4	872	c.852G>A	c.(850-852)gaG>gaA	p.E284E	TTF2_uc001egx.1_Silent_p.E284E	NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	284					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		TCAACAAGGAGTACACGAACT	0.522													A	117618058	G	A	117618058	2	1	155	1	0	0	0	0	0	0	0	1	16821	1020	36	2		2	TTF2	1	117618058	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	7532018	117618058	131632563	4	10641											
FLG	2312	broad.mit.edu	37	chr1	152283519	152283519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacaacctctcggagtcGtctgagtgtctctcactgtc	7	11	9	14	2	4	2	1	1	3	1	8	3	4	3	2	1	1	0	2	1	1	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:152283519G>A	uc001ezu.1	-	2	3879	c.3843C>T	c.(3841-3843)gaC>gaT	p.D1281D	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1281	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTCGGAGTCGTCTGAGTGTC	0.552									Ichthyosis				A	152283519	G	A	152283519	2	1	155	1	0	0	0	0	0	0	0	1	5971	1136	40	1		1	FLG	1	152283519	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	34665461	152283519	96967102	5	10642											
HMCN1	83872	broad.mit.edu	37	chr1	186050515	186050515	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatttctatctaatggaCgaattctgcaggtaaaagta	16	13	7	5	1	3	0	0	0	3	0	3	2	3	1	0	2	1	3	0	2	8	7	rs142475663		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186050515C>T	uc001grq.1	+	55	9005	c.8776C>T	c.(8776-8778)Cga>Tga	p.R2926*	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2926	Ig-like C2-type 27.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R2926Q(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCTAATGGACGAATTCTGCA	0.338													T	186050515	C	T	186050515	4	4	155	1	0	0	0	0	0	1	0	0	7275	528	19	1	8998	1	HMCN1	1	186050515	Nonsense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	33766996	186050515	63200106	6	10643											
HMCN1	83872	broad.mit.edu	37	chr1	186083185	186083185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactgtattggaatgcatcGctgaaggtgtgccaactcca	11	10	10	10	1	0	1	0	1	0	0	2	2	1	2	2	2	4	3	2	2	5	2	rs138190200	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:186083185G>A	uc001grq.1	+	72	11435	c.11206G>A	c.(11206-11208)Gct>Act	p.A3736T	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3736	Ig-like C2-type 36.				response to stimulus|visual perception	basement membrane	calcium ion binding	p.A3736T(2)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGAATGCATCGCTGAAGGTGT	0.408													A	186083185	G	A	186083185	3	1	155	1	0	0	0	0	1	0	0	0	7275	1087	38	1	11496	1	HMCN1	1	186083185	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	32670	186083185	63167436	7	10644											
NUAK2	81788	broad.mit.edu	37	chr1	205280831	205280831	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctttaagtgcccactgtAccttcatggatggcaatgat	10	12	9	10	0	1	1	1	1	0	0	1	2	1	2	2	2	3	3	2	2	3	4			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:205280831A>G	uc001hce.3	-	2	479	c.352_splice	c.e2+1	p.V118_splice	NUAK2_uc009xbj.1_5'Flank	NM_030952	NP_112214	Q9H093	NUAK2_HUMAN	Homo sapiens NUAK family, SNF1-like kinase, 2 (NUAK2), mRNA.	118	Protein kinase.				actin cytoskeleton organization|apoptosis|cellular response to glucose starvation|negative regulation of apoptosis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(3)|kidney(3)|large_intestine(4)|lung(4)|ovary(3)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23	Breast(84;0.186)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TGCCCACTGTACCTTCATGGA	0.438													G	205280831	A	G	205280831	5	3	155	1	0	0	0	0	0	0	1	0	10789	405	14	3	1556	3	NUAK2	1	205280831	Splice_Site	SNP	A	TCGA-19-2620-01A-01D-1495-08	19197646	205280831	43969790	8	10645											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209954760	209954760	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcgtaagctgcagcActgtcgagaagagctgaacc	10	7	12	12	2	0	3	0	1	0	2	1	4	0	3	2	0	7	5	2	0	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr1:209954760A>T	uc001hho.3	+	15	1940	c.1520A>T	c.(1519-1521)cAc>cTc	p.H507L	TRAF3IP3_uc001hhn.3_Missense_Mutation_p.H487L|TRAF3IP3_uc009xcr.3_Missense_Mutation_p.H507L	NM_025228	NP_079504	Q9Y228	T3JAM_HUMAN	Homo sapiens TRAF3 interacting protein 3 (TRAF3IP3), mRNA.	507						integral to membrane	protein binding	p.R506*(1)		breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AAGCTGCAGCACTGTCGAGAA	0.512													T	209954760	A	T	209954760	3	4	155	1	0	0	0	0	1	0	0	0	16543	159	6	5	1574	5	TRAF3IP3	1	209954760	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	4673929	209954760	39295861	9	10646											
LPIN1	23175	broad.mit.edu	37	chr2	11943091	11943091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgccaagccatcaaacGcaggccacctccctcttctg	9	7	7	18	1	3	0	1	0	2	0	4	0	4	0	5	1	4	2	5	1	2	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:11943091G>A	uc010yjm.2	+	15	2145	c.2092G>A	c.(2092-2094)Gca>Aca	p.A698T	LPIN1_uc010yjn.2_Missense_Mutation_p.A613T|LPIN1_uc002rbt.3_Missense_Mutation_p.A613T|LPIN1_uc010yjo.2_Missense_Mutation_p.A114T	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	613	C-LIP.				fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GCCATCAAACGCAGGCCACCT	0.532													A	11943091	G	A	11943091	3	1	155	1	0	0	0	0	1	0	0	0	8988	1087	38	1	1887	1	LPIN1	2	11943091	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		11943091	231256282	10	10647											
IL1RL1	9173	broad.mit.edu	37	chr2	102959595	102959595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaacaaaaattacagactTtggtgaaccaagaattcaac	18	9	7	7	0	1	3	1	1	0	2	1	4	1	4	1	2	4	0	1	2	8	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:102959595T>C	uc002tbu.1	+	6	1053	c.782T>C	c.(781-783)tTt>tCt	p.F261S	IL1RL1_uc010ywa.2_Missense_Mutation_p.F144S|IL18R1_uc002tbw.4_Intron|IL1RL1_uc002tbv.3_Missense_Mutation_p.F261S	NM_016232	NP_057316	Q01638	ILRL1_HUMAN	Homo sapiens interleukin 1 receptor-like 1 (IL1RL1), transcript variant 1, mRNA.	261	Ig-like C2-type 3.				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						ATTACAGACTTTGGTGAACCA	0.423													C	102959595	T	C	102959595	3	2	155	1	0	0	0	0	1	0	0	0	7721	1841	64	3	804	3	IL1RL1	2	102959595	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	91016504	102959595	140239778	11	10648											
LRP2	4036	broad.mit.edu	37	chr2	170066149	170066149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacatgcagtgcgtttcGtcctggaagttaagaaaaga	13	10	10	8	2	0	2	0	0	0	2	3	3	2	3	2	1	2	3	2	1	4	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:170066149G>A	uc002ues.3	-	37	6496	c.6283C>T	c.(6283-6285)Cga>Tga	p.R2095*		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2095					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2095Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGTGCGTTTCGTCCTGGAAGT	0.418													A	170066149	G	A	170066149	4	1	155	1	0	0	0	0	0	1	0	0	9026	1153	40	1	7852	1	LRP2	2	170066149	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	67106554	170066149	73133224	12	10649											
DNAH7	56171	broad.mit.edu	37	chr2	196765215	196765215	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgctactgtccgaaagaGagcctatgggtaggtagaaa	13	9	12	7	1	0	2	0	0	0	2	1	4	1	2	2	2	3	3	2	2	6	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:196765215G>C	uc002utj.4	-	27	4440	c.4339C>G	c.(4339-4341)Ctc>Gtc	p.L1447V		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1447	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.L1447L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GTCCGAAAGAGAGCCTATGGG	0.418													C	196765215	G	C	196765215	3	2	155	1	0	0	0	0	1	0	0	0	4645	942	33	4	7887	4	DNAH7	2	196765215	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	26699066	196765215	46434158	13	10650											
AOX1	316	broad.mit.edu	37	chr2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccttttgggctcggCgccaggtgggaaagtggagt	6	10	16	9	2	1	0	0	0	1	0	3	2	1	2	2	5	0	1	2	5	1	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201478598C>T	uc002uvx.3	+	14	1621	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_uc010zhf.2_Missense_Mutation_p.A63V|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507V(2)|p.A507A(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473													T	201478598	C	T	201478598	3	4	155	1	0	0	0	0	1	0	0	0	731	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	4713383	201478598	41720775	14	10651											
FAM126B	285172	broad.mit.edu	37	chr2	201881771	201881771	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattactctgtctgtctcgGctaactgtaagccgtaaata	10	13	7	11	2	3	0	0	0	3	0	4	0	3	0	2	1	3	3	2	1	6	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:201881771G>A	uc002uws.4	-	4	464	c.276C>T	c.(274-276)agC>agT	p.S92S	FAM126B_uc002uwu.3_Silent_p.S10S|FAM126B_uc002uwv.3_Silent_p.S92S|FAM126B_uc002uww.1_Silent_p.S92S	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	92						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GTCTGTCTCGGCTAACTGTAA	0.388													A	201881771	G	A	201881771	2	1	155	1	0	0	0	0	0	0	0	1	5475	1194	42	2		2	FAM126B	2	201881771	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	403173	201881771	41317602	15	10652											
TRPM8	79054	broad.mit.edu	37	chr2	234835206	234835206	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcgggcagccaggctCagcatgaggaacagaaggaa	12	6	13	10	1	1	2	1	1	0	1	3	4	2	4	2	4	3	3	2	4	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr2:234835206C>A	uc002vvh.3	+	1	64	c.24C>A	c.(22-24)ctC>ctA	p.L8L	TRPM8_uc010fyj.3_5'UTR	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	8						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CAGCCAGGCTCAGCATGAGGA	0.522													A	234835206	C	A	234835206	2	1	155	1	0	0	0	0	0	0	0	1	16693	813	29	4		4	TRPM8	2	234835206	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	32953435	234835206	8364167	16	10653											
OR5H2	79310	broad.mit.edu	37	chr3	98001924	98001924	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaacttcacatccccatgTacttttttcttgggagttta	9	16	5	11	0	2	0	1	0	1	0	3	1	3	1	2	1	2	2	2	1	3	8			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98001924T>A	uc003dsj.1	+	0	193	c.193T>A	c.(193-195)Tac>Aac	p.Y65N		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CATCCCCATGTACTTTTTTCT	0.408													A	98001924	T	A	98001924	3	1	155	1	0	0	0	0	1	0	0	0	11238	1638	57	5	195	5	OR5H2	3	98001924	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08		98001924	100020506	17	10654											
OR5H2	79310	broad.mit.edu	37	chr3	98002428	98002428	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttttcacaatcctaaaaAagaagtctgttagaggcgta	14	12	7	8	1	3	2	1	0	2	2	4	2	4	2	1	1	0	2	1	1	7	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:98002428A>C	uc003dsj.1	+	0	697	c.697A>C	c.(697-699)Aag>Cag	p.K233Q		NM_001005482	NP_001005482	Q8NGV7	OR5H2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 2 (OR5H2), mRNA.	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						AATCCTAAAAAAGAAGTCTGT	0.363													C	98002428	A	C	98002428	3	2	155	1	0	0	0	0	1	0	0	0	11238	15	1	5	699	5	OR5H2	3	98002428	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	504	98002428	100020002	18	10655											
SLCO2A1	6578	broad.mit.edu	37	chr3	133692615	133692615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaatcagacgtggacGgtgcacccggctgccaaagt	10	6	13	12	3	1	1	1	0	0	1	1	3	1	2	3	3	3	2	3	3	2	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:133692615G>A	uc003eqa.4	-	2	563	c.289C>T	c.(289-291)Cgt>Tgt	p.R97C	SLCO2A1_uc011blv.2_Missense_Mutation_p.R97C|SLCO2A1_uc010htw.1_5'UTR	NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	97					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.R97H(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						AGACGTGGACGGTGCACCCGG	0.572													A	133692615	G	A	133692615	3	1	155	1	0	0	0	0	1	0	0	0	14820	1116	39	1	1690	1	SLCO2A1	3	133692615	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	35690187	133692615	64329815	19	10656											
BCHE	590	broad.mit.edu	37	chr3	165548715	165548715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgacttttccattctttGttgcaattatgatgtcatct	7	20	5	9	0	4	2	1	2	3	0	5	2	5	2	1	0	1	2	1	0	2	6			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:165548715G>T	uc003fem.4	-	1	267	c.107C>A	c.(106-108)aCa>aAa	p.T36K	BCHE_uc003fen.4_Intron	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	36					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	TCCATTCTTTGTTGCAATTAT	0.408													T	165548715	G	T	165548715	3	4	155	1	0	0	0	0	1	0	0	0	1363	1377	48	4	1713	4	BCHE	3	165548715	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	31856100	165548715	32473715	20	10657											
GHSR	2693	broad.mit.edu	37	chr3	172165593	172165593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcagtccagagcgcaccGcaaactcggtggggcggcac	9	4	15	13	4	0	2	0	1	0	1	2	2	1	2	2	4	3	4	2	4	1	0	rs121917883		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr3:172165593G>A	uc003fib.2	-	0	654	c.611C>T	c.(610-612)gCg>gTg	p.A204V	GHSR_uc011bpv.2_Missense_Mutation_p.A204V	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	204			A -> E (in ISSA; affects cell-surface expression; impairs constitutive activity but not the ability to respond to ghrelin).		actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			AGAGCGCACCGCAAACTCGGT	0.622													A	172165593	G	A	172165593	3	1	155	1	0	0	0	0	1	0	0	0	6431	1087	38	1	571	1	GHSR	3	172165593	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	6616878	172165593	25856837	21	10658											
CCDC158	339965	broad.mit.edu	37	chr4	77288530	77288530	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcatagctccagcagttcGtccatgctggcccaccagct	7	10	9	15	1	0	0	0	0	0	0	3	0	2	0	4	1	5	6	4	1	1	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:77288530G>A	uc003hkb.4	-	10	1900	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CCAGCAGTTCGTCCATGCTGG	0.453													A	77288530	G	A	77288530	4	1	155	1	0	0	0	0	0	1	0	0	2817	1153	40	1	1650	1	CCDC158	4	77288530	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		77288530	113865746	22	10659											
SEC31A	22872	broad.mit.edu	37	chr4	83799939	83799939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatgcttgtcattctgggCaatcacaacttccttgtctc	8	15	7	11	0	4	0	2	0	2	0	6	0	5	0	1	1	2	3	1	1	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:83799939C>T	uc003hnh.3	-	3	526	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	SEC31A_uc011ccl.2_Missense_Mutation_p.A116T|SEC31A_uc003hnl.3_Missense_Mutation_p.A116T|SEC31A_uc003hng.3_Missense_Mutation_p.A116T|SEC31A_uc011ccm.2_Missense_Mutation_p.A111T|SEC31A_uc003hni.3_Missense_Mutation_p.A116T|SEC31A_uc003hnk.3_Missense_Mutation_p.A116T|SEC31A_uc003hnf.3_Missense_Mutation_p.A116T|SEC31A_uc011ccn.2_Missense_Mutation_p.A116T|SEC31A_uc003hnm.3_Missense_Mutation_p.A116T|SEC31A_uc003hnn.2_Missense_Mutation_p.A116T|SEC31A_uc003hno.3_Missense_Mutation_p.A116T	NM_014933	NP_055748	O94979	SC31A_HUMAN	Homo sapiens SEC31 homolog A (S. cerevisiae) (SEC31A), transcript variant 1, mRNA.	116					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				TCATTCTGGGCAATCACAACT	0.398													T	83799939	C	T	83799939	3	4	155	1	0	0	0	0	1	0	0	0	14091	710	25	2	3412	2	SEC31A	4	83799939	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	6511409	83799939	107354337	23	10660											
PCDH18	54510	broad.mit.edu	37	chr4	138451923	138451923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagagagactgggtgtcccCctgtcctcagcgattacagt	8	10	12	11	1	1	2	1	0	0	2	3	4	3	2	3	1	2	1	3	1	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr4:138451923C>T	uc003ihe.4	-	0	1707	c.1320G>A	c.(1318-1320)agG>agA	p.R440R	PCDH18_uc003ihf.4_Silent_p.R433R|PCDH18_uc011cgz.2_Intron|PCDH18_uc003ihg.4_Silent_p.R220R|PCDH18_uc011cha.2_Intron	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	440	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TGGGTGTCCCCCTGTCCTCAG	0.373													T	138451923	C	T	138451923	2	4	155	1	0	0	0	0	0	0	0	1	11589	622	22	2		2	PCDH18	4	138451923	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	54651984	138451923	52702353	24	10661											
MYO10	4651	broad.mit.edu	37	chr5	16668507	16668507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggtcttccctctccaCgcttgtagacggagacggcg	6	9	12	14	4	2	2	0	0	2	2	4	3	3	2	3	3	0	2	3	3	1	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:16668507C>T	uc003jft.4	-	39	6422	c.5954G>A	c.(5953-5955)cGt>cAt	p.R1985H	MYO10_uc011cnb.2_Missense_Mutation_p.R614H|MYO10_uc011cnc.2_Missense_Mutation_p.R864H|MYO10_uc011cnd.2_Missense_Mutation_p.R1342H|MYO10_uc011cne.2_Missense_Mutation_p.R1342H|MYO10_uc010itx.3_Missense_Mutation_p.R1607H	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	1985	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCCTCTCCACGCTTGTAGAC	0.547													T	16668507	C	T	16668507	3	4	155	1	0	0	0	0	1	0	0	0	10138	536	19	1	230	1	MYO10	5	16668507	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		16668507	164246753	25	10662											
CDH9	1007	broad.mit.edu	37	chr5	26885965	26885965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccgagtcatgattcctGctgtattatctgggggagaa	8	14	11	8	1	2	2	1	1	1	1	4	4	4	2	2	2	1	2	2	2	3	4			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:26885965G>A	uc003jgs.1	-	10	1809	c.1640C>T	c.(1639-1641)gCa>gTa	p.A547V	CDH9_uc011cnv.1_Missense_Mutation_p.A140V	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	547	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATGATTCCTGCTGTATTATC	0.318													A	26885965	G	A	26885965	3	1	155	1	0	0	0	0	1	0	0	0	3147	1319	46	2	737	2	CDH9	5	26885965	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10217458	26885965	154029295	26	10663											
ANKHD1-EIF4EBP3	404734	broad.mit.edu	37	chr5	139889605	139889605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taatatgccttgtttacaggGgagcccacattgatgttcgt	9	14	10	8	1	0	1	0	1	0	0	1	2	0	2	2	2	3	2	2	2	3	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:139889605G>A	uc003lfs.2	+	22	4096	c.3942_splice	c.e22-1	p.R1314_splice	ANKHD1-EIF4EBP3_uc003lfq.2_Splice_Site_p.R1333_splice|ANKHD1-EIF4EBP3_uc003lfr.3_Splice_Site_p.R1314_splice|ANKHD1-EIF4EBP3_uc003lft.1_Splice_Site_p.R525_splice|ANKHD1-EIF4EBP3_uc003lfu.1_Splice_Site_p.R794_splice|ANKHD1-EIF4EBP3_uc003lfv.1_Splice_Site_p.R391_splice|ANKHD1-EIF4EBP3_uc011czh.1_Splice_Site_p.R53_splice|ANKHD1-EIF4EBP3_uc003lfw.3_Splice_Site	NM_020690	NP_065741	Q8IWZ2	Q8IWZ2_HUMAN	Homo sapiens ANKHD1-EIF4EBP3 readthrough (ANKHD1-EIF4EBP3), mRNA.	1314						cytoplasm|nucleus	RNA binding			breast(1)|endometrium(8)|kidney(6)|large_intestine(14)|lung(17)|ovary(6)|prostate(2)|skin(1)|urinary_tract(2)	57			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTTACAGGGGAGCCCACAT	0.393													A	139889605	G	A	139889605	3	1	155	1	0	0	0	0	1	0	0	0	629	1246	43	2	4029	2	ANKHD1-EIF4EBP3	5	139889605	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	113003640	139889605	41025655	27	10664											
PCDHAC2	56144	broad.mit.edu	37	chr5	140188686	140188686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaacgcgtgccctggaCgaaacggacgctccgcgcca	10	3	12	16	7	0	0	0	0	0	0	1	3	1	2	3	2	4	2	3	2	2	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140188686C>T	uc003lhi.2	+	0	2015	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Silent_p.D638D|PCDHAC2_uc011daa.2_Silent_p.D638D	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	649	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAAACGGACG	0.677													T	140188686	C	T	140188686	2	4	155	1	0	0	0	0	0	0	0	1	11609	535	19	1		1	PCDHAC2	5	140188686	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	299081	140188686	40726574	28	10665											
PCDHGC5	56102	broad.mit.edu	37	chr5	140751537	140751537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcgaccacgagcagctgCgtgccttcgagctcactctg	6	9	10	16	4	2	0	1	0	1	0	4	3	2	0	3	0	5	3	3	0	0	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:140751537C>T	uc003ljw.2	+	0	1576	c.1576C>T	c.(1576-1578)Cgt>Tgt	p.R526C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.R526C|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	528	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCAGCTGCGTGCCTTCGA	0.692													T	140751537	C	T	140751537	3	4	155	1	0	0	0	0	1	0	0	0	11647	768	27	1		1	PCDHGC5	5	140751537	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	562851	140751537	40163723	29	10666											
CAMK2A	815	broad.mit.edu	37	chr5	149602771	149602771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacgggcttgctgttcCgggaccacactggaggaggg	6	8	17	10	2	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	0	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:149602771C>T	uc003lru.2	-	16	1429	c.1214G>A	c.(1213-1215)cGg>cAg	p.R405Q	CAMK2A_uc003lrt.2_Missense_Mutation_p.R416Q	NM_171825	NP_741960	Q9UQM7	KCC2A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase II alpha (CAMK2A), transcript variant 2, mRNA.	405					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTGCTGTTCCGGGACCACAC	0.612													T	149602771	C	T	149602771	3	4	155	1	0	0	0	0	1	0	0	0	2625	652	23	1	230	1	CAMK2A	5	149602771	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	8851234	149602771	31312489	30	10667											
LARP1	23367	broad.mit.edu	37	chr5	154188110	154188110	+	Silent	SNP	G	G	A																															cgagatcacttcaacaaaaaGatgtatgaggagttcaagca																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188110G>A	uc003lvo.3	+	15	2583	c.2559G>A	c.(2557-2559)aaG>aaA	p.K853K	LARP1_uc021ygh.1_Silent_p.K725K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	930							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCAACAAAAAGATGTATGAGG	0.532													A	154188110	G	A	154188110	2	1	155	1	0	0	0	0	0	0	0	1	8687	933	33	2		2	LARP1	5	154188110	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	4585339	154188110	26727150	31	10668	14	2									
LARP1	23367	broad.mit.edu	37	chr5	154188112	154188112	+	Missense_Mutation	SNP	T	T	A																															agatcacttcaacaaaaagaTgtatgaggagttcaagcagc																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:154188112T>A	uc003lvo.3	+	15	2585	c.2561T>A	c.(2560-2562)aTg>aAg	p.M854K	LARP1_uc021ygh.1_Missense_Mutation_p.M726K	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	931							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AACAAAAAGATGTATGAGGAG	0.532													A	154188112	T	A	154188112	3	1	155	1	0	0	0	0	1	0	0	0	8687	1464	51	5	2623	5	LARP1	5	154188112	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	2	154188112	26727148	32	10669	14	2									
GABRA6	2559	broad.mit.edu	37	chr5	161116737	161116737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagccttctccagtatGatctgattggacaaacagta	12	12	7	10	0	3	2	1	2	2	0	4	3	3	3	2	1	2	2	2	1	4	5	rs145469537		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr5:161116737G>T	uc003lyu.2	+	5	963	c.625G>T	c.(625-627)Gat>Tat	p.D209Y	GABRA6_uc003lyv.2_5'UTR	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	209					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.D209N(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCCAGTATGATCTGATTGG	0.378										TCGA Ovarian(5;0.080)			T	161116737	G	T	161116737	3	4	155	1	0	0	0	0	1	0	0	0	6217	1290	45	4	647	4	GABRA6	5	161116737	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	6928625	161116737	19798523	33	10670											
ENPP5	59084	broad.mit.edu	37	chr6	46135819	46135819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattagtaacttgcttcaCgtgaacaccatatttcataa	15	13	4	9	1	2	1	2	1	0	0	2	1	2	1	1	0	4	2	1	0	6	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:46135819C>T	uc003oxz.1	-	1	389	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	ENPP5_uc010jzc.1_Missense_Mutation_p.V61M|ENPP5_uc011dvz.1_Intron|ENPP5_uc003oya.1_Missense_Mutation_p.V61M	NM_021572	NP_067547	Q9UJA9	ENPP5_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative) (ENPP5), mRNA.	61						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ACTTGCTTCACGTGAACACCA	0.348													T	46135819	C	T	46135819	3	4	155	1	0	0	0	0	1	0	0	0	5174	536	19	1	1264	1	ENPP5	6	46135819	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		46135819	124979248	34	10671											
LGSN	51557	broad.mit.edu	37	chr6	63991054	63991054	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctcttatgttattcatTtcattgtcctttggatttgg	5	21	9	6	0	3	0	2	0	1	0	4	1	4	1	1	3	0	2	1	3	2	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:63991054T>A	uc003peh.3	-	3	436	c.402A>T	c.(400-402)gaA>gaT	p.E134D	LGSN_uc003pei.3_Missense_Mutation_p.E134D	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	134					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TGTTATTCATTTCATTGTCCT	0.393													A	63991054	T	A	63991054	3	1	155	1	0	0	0	0	1	0	0	0	8819	1838	64	5	1131	5	LGSN	6	63991054	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	17855235	63991054	107124013	35	10672											
EPHA7	2045	broad.mit.edu	37	chr6	93956625	93956625	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acgctccttttgccaacaatCcaacattagctggtgaaggc	11	10	8	12	1	0	1	0	1	0	0	2	1	2	1	3	2	4	2	3	2	5	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:93956625C>G	uc003poe.3	-	14	2852	c.2611G>C	c.(2611-2613)Gat>Cat	p.D871H	EPHA7_uc003pof.3_Missense_Mutation_p.D866H|EPHA7_uc011eac.2_Missense_Mutation_p.D867H	NM_004440	NP_004431	Q15375	EPHA7_HUMAN	Homo sapiens EPH receptor A7 (EPHA7), mRNA.	871	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGCCAACAATCCAACATTAGC	0.418													G	93956625	C	G	93956625	3	3	155	1	0	0	0	0	1	0	0	0	5213	855	30	4	397	4	EPHA7	6	93956625	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	29965571	93956625	77158442	36	10673											
MAN1A1	4121	broad.mit.edu	37	chr6	119669897	119669897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccagggcggcctccgggtCcccgggtgccccctcctcgc	1	6	13	21	4	0	0	0	0	0	0	5	0	4	0	8	4	1	0	8	4	0	0	rs139302645		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:119669897C>G	uc003pym.1	-	1	776	c.334G>C	c.(334-336)Gac>Cac	p.D112H	MAN1A1_uc010kei.2_Missense_Mutation_p.D112H	NM_005907	NP_005898	P33908	MA1A1_HUMAN	Homo sapiens mannosidase, alpha, class 1A, member 1 (MAN1A1), mRNA.	112					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCCTCCGGGTCCCCGGGTGCC	0.761													G	119669897	C	G	119669897	3	3	155	1	0	0	0	0	1	0	0	0	9285	855	30	4	1675	4	MAN1A1	6	119669897	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	25713272	119669897	51445170	37	10674											
MED23	9439	broad.mit.edu	37	chr6	131929144	131929144	+	Frame_Shift_Del	DEL	C	C	-																															gtgcatttttctgaatacttCcagaaatgaattgcaggaga																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:131929144delC	uc003qcs.1	-	11	1319	c.1145delG	c.(1144-1146)ggafs	p.G382fs	MED23_uc003qcq.3_Frame_Shift_Del_p.G388fs|MED23_uc011eca.1_Intron|MED23_uc003qct.1_Frame_Shift_Del_p.G388fs|MED23_uc011ecb.1_Non-coding_Transcript	NM_004830	NP_004821	Q9ULK4	MED23_HUMAN	Homo sapiens mediator complex subunit 23 (MED23), transcript variant 1, mRNA.	382					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTGAATACTTCCAGAAATGAA	0.378													-	131929144	C	-	131929144	7	5	155	1	0	1	0	1	0	0	0	0	9516	855	30	0	3040	0	MED23	6	131929144	Frame_Shift_Del	DEL	C	TCGA-19-2620-01A-01D-1495-08	12259247	131929144	39185923	38	10675											
ECT2L	345930	broad.mit.edu	37	chr6	139183819	139183819	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaactggcacgttctttacGgcccccactgggattgcaac	8	10	9	14	2	1	0	0	0	1	0	1	1	1	1	2	3	4	3	2	3	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:139183819G>A	uc003qif.2	+	10	1579	c.1254G>A	c.(1252-1254)acG>acA	p.T418T	ECT2L_uc021zfx.1_Silent_p.T418T|ECT2L_uc011edq.1_Silent_p.T349T	NM_001077706	NP_001181966	Q008S8	ECT2L_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene-like (ECT2L), transcript variant 1, mRNA.	418					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGTTCTTTACGGCCCCCACTG	0.463			"N, Splice, Mis"		ETP ALL								A	139183819	G	A	139183819	2	1	155	1	0	0	0	0	0	0	0	1	4941	1103	39	1		1	ECT2L	6	139183819	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	7254675	139183819	31931248	39	10676											
MAP3K4	4216	broad.mit.edu	37	chr6	161470034	161470034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcaaagaaaaaagacAgggagcaaagaggacaagaa	22	2	11	6	0	1	4	1	0	1	4	2	6	1	6	0	2	1	1	0	2	7	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr6:161470034A>G	uc003qtn.3	+	2	872	c.730A>G	c.(730-732)Agg>Ggg	p.R244G	MAP3K4_uc010kkc.1_Missense_Mutation_p.R244G|MAP3K4_uc003qto.3_Missense_Mutation_p.R244G|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	244					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GAAAAAAGACAGGGAGCAAAG	0.433													G	161470034	A	G	161470034	3	3	155	1	0	0	0	0	1	0	0	0	9327	179	7	3	740	3	MAP3K4	6	161470034	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	22286215	161470034	9645033	40	10677											
NPC1L1	29881	broad.mit.edu	37	chr7	44579249	44579249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcaggtcgccacgtcGtcaccttgggactcattgca	8	8	12	13	3	2	0	2	0	0	0	4	2	2	2	2	3	2	2	2	3	0	2	rs148698796		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:44579249G>A	uc003tlb.3	-	1	803	c.747C>T	c.(745-747)gaC>gaT	p.D249D	NPC1L1_uc011kbw.2_Silent_p.D249D|NPC1L1_uc003tlc.3_Silent_p.D249D|NPC1L1_uc003tld.3_Silent_p.D249D	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	249					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCGCCACGTCGTCACCTTGGG	0.632													A	44579249	G	A	44579249	2	1	155	1	0	0	0	0	0	0	0	1	10647	1136	40	1		1	NPC1L1	7	44579249	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08		44579249	114559414	41	10678											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	155	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10653794	55233043	103905620	42	10679											
CACNA2D1	781	broad.mit.edu	37	chr7	81598223	81598223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaggtttaagaagtttcCcttgaatatatatttctaca	12	16	6	7	0	1	2	0	1	1	1	2	2	2	2	1	1	2	3	1	1	7	9			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr7:81598223C>T	uc003uhr.1	-	28	2631	c.2375G>A	c.(2374-2376)gGg>gAg	p.G792E	CACNA2D1_uc011kgy.1_Intron	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	804						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AAGAAGTTTCCCTTGAATATA	0.284													T	81598223	C	T	81598223	3	4	155	1	0	0	0	0	1	0	0	0	2574	623	22	2	944	2	CACNA2D1	7	81598223	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	26365180	81598223	77540440	43	10680											
CHMP4C	92421	broad.mit.edu	37	chr8	82644913	82644913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctcttctaagagccgaGccgctcccagtccccaggag	7	6	12	16	3	2	1	0	0	2	1	4	3	4	2	5	2	2	2	5	2	1	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:82644913G>A	uc003ycl.3	+	0	226	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_152284	NP_689497	Q96CF2	CHM4C_HUMAN	Homo sapiens charged multivesicular body protein 4C (CHMP4C), mRNA.	18	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						TAAGAGCCGAGCCGCTCCCAG	0.587													A	82644913	G	A	82644913	3	1	155	1	0	0	0	0	1	0	0	0	3388	971	34	2	54	2	CHMP4C	8	82644913	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		82644913	63719109	44	10681											
WDYHV1	55093	broad.mit.edu	37	chr8	124453566	124453566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccaaaatgaacctgaacGatttcatcagtatggatccc	14	11	6	10	1	2	2	2	2	0	0	4	4	4	3	3	1	2	1	3	1	5	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:124453566G>A	uc003yqn.1	+	5	654	c.529G>A	c.(529-531)Gat>Aat	p.D177N	WDYHV1_uc011lij.1_Missense_Mutation_p.D117N	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	177					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity	p.N176S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GAACCTGAACGATTTCATCAG	0.373													A	124453566	G	A	124453566	3	1	155	1	0	0	0	0	1	0	0	0	17445	1058	37	1	551	1	WDYHV1	8	124453566	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	41808653	124453566	21910456	45	10682											
SLC45A4	57210	broad.mit.edu	37	chr8	142228261	142228261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccacagcaggcgcaccGtggtctcgccctccccctcc	6	5	10	20	3	1	1	0	0	1	1	4	1	3	1	6	2	2	2	6	2	0	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:142228261G>A	uc003ywd.1	-	3	1633	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M	SLC45A4_uc003ywc.1_Missense_Mutation_p.T442M|SLC45A4_uc010meq.1_Missense_Mutation_p.T440M	NM_001080431	NP_001073900	Q5BKX6	S45A4_HUMAN	Homo sapiens solute carrier family 45, member 4 (SLC45A4), mRNA.	493					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CAGGCGCACCGTGGTCTCGCC	0.682													A	142228261	G	A	142228261	3	1	155	1	0	0	0	0	1	0	0	0	14737	1145	40	1	1091	1	SLC45A4	8	142228261	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	17774695	142228261	4135761	46	10683											
RHPN1	114822	broad.mit.edu	37	chr8	144462083	144462083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtctcctggactgccctgGtgcatgtcaaggccgagtac	6	10	12	13	1	2	0	1	0	1	0	3	2	2	1	3	3	3	2	3	3	2	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr8:144462083G>A	uc003yyb.3	+	8	1163	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_052924	NP_443156	Q8TCX5	RHPN1_HUMAN	Homo sapiens rhophilin, Rho GTPase binding protein 1 (RHPN1), mRNA.	344	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GACTGCCCTGGTGCATGTCAA	0.657													A	144462083	G	A	144462083	3	1	155	1	0	0	0	0	1	0	0	0	13439	1261	44	2	1064	2	RHPN1	8	144462083	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	2233822	144462083	1901939	47	10684											
TAF1L	138474	broad.mit.edu	37	chr9	32633610	32633610	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgtgctttagcaaaggTtggactgaatggggacctgg	9	12	15	5	0	0	2	0	2	0	0	0	4	0	4	1	5	2	3	1	5	3	4			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:32633610T>A	uc003zrg.1	-	0	2058	c.1968A>T	c.(1966-1968)caA>caT	p.Q656H	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	656					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TTAGCAAAGGTTGGACTGAAT	0.502													A	32633610	T	A	32633610	3	1	155	1	0	0	0	0	1	0	0	0	15620	1722	60	5	3516	5	TAF1L	9	32633610	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08		32633610	108579821	48	10685											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899196	112899196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggagagagctcatcCgcagccaggccgtcaagaag	13	3	15	10	2	2	3	2	0	0	3	3	6	3	4	3	3	2	2	3	3	2	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:112899196C>T	uc004bei.2	+	8	2260	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.R458C|PALM2-AKAP2_uc004bel.1_Missense_Mutation_p.R268C|PALM2-AKAP2_uc011lwi.2_Missense_Mutation_p.R316C|PALM2-AKAP2_uc004bem.3_Missense_Mutation_p.R316C|PALM2-AKAP2_uc010mtw.1_Missense_Mutation_p.R276C|PALM2-AKAP2_uc011lwj.2_Missense_Mutation_p.R227C|PALM2-AKAP2_uc004ben.3_Missense_Mutation_p.R227C	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	227							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGAGCTCATCCGCAGCCAGGC	0.512													T	112899196	C	T	112899196	3	4	155	1	0	0	0	0	1	0	0	0	11486	652	23	1	1402	1	PALM2-AKAP2	9	112899196	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	80265586	112899196	28314235	49	10686											
PMPCA	23203	broad.mit.edu	37	chr9	139306464	139306464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaggtttggacctcctgcGtacagacggtttagtagtgg	7	14	13	7	2	0	1	0	0	0	1	1	2	1	2	2	4	2	4	2	4	4	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr9:139306464G>A	uc004chl.3	+	1	92	c.87G>A	c.(85-87)gcG>gcA	p.A29A	SDCCAG3_uc004chj.3_5'Flank|SDCCAG3_uc004chk.3_5'Flank|SDCCAG3_uc004chi.3_5'Flank|PMPCA_uc011mdy.1_Silent_p.A29A|PMPCA_uc010nbk.2_Non-coding_Transcript|PMPCA_uc011mdz.2_5'UTR|PMPCA_uc010nbl.3_5'UTR	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	29					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GACCTCCTGCGTACAGACGGT	0.493													A	139306464	G	A	139306464	2	1	155	1	0	0	0	0	0	0	0	1	12217	1132	40	1		1	PMPCA	9	139306464	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	26407268	139306464	1906967	50	10687											
AS3MT	57412	broad.mit.edu	37	chr10	104638210	104638210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgggttctgccctccaCgtttggtcactgccaatctc	7	13	8	13	1	3	0	1	0	2	0	5	0	4	0	3	2	2	2	3	2	2	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr10:104638210C>T	uc001kwj.3	+	11	1090	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C	AS3MT_uc009xxh.3_Missense_Mutation_p.R229C|AS3MT_uc001kwk.3_Missense_Mutation_p.R229C	NM_020682	NP_065733	Q9HBK9	AS3MT_HUMAN	Homo sapiens arsenic (+3 oxidation state) methyltransferase (AS3MT), mRNA.	229					arsonoacetate metabolic process|toxin metabolic process	cytosol	arsenite methyltransferase activity|methylarsonite methyltransferase activity			large_intestine(1)|lung(6)	7		Colorectal(252;0.122)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;5.87e-09)|all cancers(201;1.58e-07)|BRCA - Breast invasive adenocarcinoma(275;0.223)		CTGCCCTCCACGTTTGGTCAC	0.408													T	104638210	C	T	104638210	3	4	155	1	0	0	0	0	1	0	0	0	1010	536	19	1	715	1	AS3MT	10	104638210	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		104638210	30896537	51	10688											
OR52I1	390037	broad.mit.edu	37	chr11	4616048	4616048	+	Frame_Shift_Del	DEL	G	G	-																															ttgtactatctacctgggatGgcatccatctatgcggcctg																										TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:4616048delG	uc010qyi.2	+	0	780	c.780delG	c.(778-780)atgfs	p.M260fs		NM_001005169	NP_001005169	Q8NGK6	O52I1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily I, member 1 (OR52I1), mRNA.	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TACCTGGGATGGCATCCATCT	0.507													-	4616048	G	-	4616048	7	5	155	1	0	1	0	1	0	0	0	0	11196	1348	47	0	782	0	OR52I1	11	4616048	Frame_Shift_Del	DEL	G	TCGA-19-2620-01A-01D-1495-08		4616048	130390468	52	10689											
OR5D18	219438	broad.mit.edu	37	chr11	55587445	55587445	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttgtggtcactgaatccTttttattagctgtgatggcc	6	17	9	9	0	1	2	1	2	0	0	2	2	2	2	3	2	1	1	3	2	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:55587445T>A	uc010rin.2	+	0	340	c.340T>A	c.(340-342)Ttt>Att	p.F114I		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S113F(1)|p.F114F(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CACTGAATCCTTTTTATTAGC	0.433													A	55587445	T	A	55587445	3	1	155	1	0	0	0	0	1	0	0	0	11233	1609	56	5	342	5	OR5D18	11	55587445	Missense_Mutation	SNP	T	TCGA-19-2620-01A-01D-1495-08	50971397	55587445	79419071	53	10690											
ACRV1	56	broad.mit.edu	37	chr11	125542539	125542539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcatataatttgcatcctCgttccatgggagaagaggtt	11	12	10	8	1	0	2	0	0	0	2	3	3	2	2	2	2	2	4	2	2	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr11:125542539C>T	uc001qcs.3	-	3	865	c.747G>A	c.(745-747)acG>acA	p.T249T	CHEK1_uc001qcf.4_Intron|ACRV1_uc001qcl.3_Silent_p.T179T|ACRV1_uc001qcn.3_Silent_p.T194T|ACRV1_uc001qcr.3_Silent_p.T230T	NM_001612	NP_001603	P26436	ASPX_HUMAN	Homo sapiens acrosomal vesicle protein 1 (ACRV1), transcript variant 1, mRNA.	249					multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		TTTGCATCCTCGTTCCATGGG	0.448													T	125542539	C	T	125542539	2	4	155	1	0	0	0	0	0	0	0	1	172	871	31	1		1	ACRV1	11	125542539	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	69955094	125542539	9463977	54	10691											
ADAMTS20	80070	broad.mit.edu	37	chr12	43833726	43833726	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataagttctttctcttgtcGattagtactattaattcttt	10	21	4	6	1	3	0	0	0	3	0	5	1	3	0	0	0	1	2	0	0	6	10			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:43833726G>A	uc010skx.2	-	16	2437	c.2437C>T	c.(2437-2439)Cga>Tga	p.R813*	ADAMTS20_uc001rno.1_5'Flank|ADAMTS20_uc001rnp.1_5'Flank	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	813	Spacer.					proteinaceous extracellular matrix	zinc ion binding	p.R813*(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTCTCTTGTCGATTAGTACTA	0.299													A	43833726	G	A	43833726	4	1	155	1	0	0	0	0	0	1	0	0	266	1066	37	1	3386	1	ADAMTS20	12	43833726	Nonsense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		43833726	90018169	55	10692											
H1FNT	341567	broad.mit.edu	37	chr12	48723149	48723149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggccatggctgaggcGcctgggcccagtggcgaatc	6	6	18	11	2	0	1	0	1	0	0	1	2	0	1	3	6	0	1	3	6	1	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:48723149G>A	uc001rrm.3	+	0	387	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_181788	NP_861453	Q75WM6	H1FNT_HUMAN	Homo sapiens H1 histone family, member N, testis-specific (H1FNT), mRNA.	25					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						TGGCTGAGGCGCCTGGGCCCA	0.657													A	48723149	G	A	48723149	2	1	155	1	0	0	0	0	0	0	0	1	6976	1074	38	1		1	H1FNT	12	48723149	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	4889423	48723149	85128746	56	10693											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022670	58022670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcaatcgtgactagagcGctgatgttgtactgggctga	8	11	15	7	2	0	4	0	3	0	1	1	4	0	4	0	2	2	5	0	2	3	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:58022670G>A	uc001spg.1	-	7	1260	c.828C>T	c.(826-828)agC>agT	p.S276S	B4GALNT1_uc010sru.2_Silent_p.S221S|B4GALNT1_uc010srv.2_Silent_p.S243S	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	276					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGACTAGAGCGCTGATGTTGT	0.577													A	58022670	G	A	58022670	2	1	155	1	0	0	0	0	0	0	0	1	1271	1078	38	1		1	B4GALNT1	12	58022670	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	9299521	58022670	75829225	57	10694											
PTPN11	5781	broad.mit.edu	37	chr12	112926910	112926910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtccagacagaagcacaGtaccgatttatctatatggc	13	10	9	9	1	1	2	0	0	1	2	2	3	2	2	2	2	2	2	2	2	5	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:112926910G>C	uc001ttx.3	+	12	1910	c.1530G>C	c.(1528-1530)caG>caC	p.Q510H		NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	514	Tyrosine-protein phosphatase.		Q -> P (in LEOPARD1).|Q -> R (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.Q510K(2)|p.Q510H(1)|p.Q510L(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CAGAAGCACAGTACCGATTTA	0.493			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				C	112926910	G	C	112926910	3	2	155	1	0	0	0	0	1	0	0	0	12866	1020	36	4	1580	4	PTPN11	12	112926910	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	54904240	112926910	20924985	58	10695											
C12orf52	84934	broad.mit.edu	37	chr12	113629392	113629392	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttacactcttcacgccccCtgaagcggggactttcccat	7	10	9	15	2	2	1	1	1	1	0	3	2	3	2	3	3	2	1	3	3	2	3			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:113629392C>T	uc001tur.1	+	3	1048	c.580C>T	c.(580-582)Ctg>Ttg	p.L194L		NM_032848	NP_116237	Q96K30	RITA_HUMAN	Homo sapiens chromosome 12 open reading frame 52 (C12orf52), mRNA.	194	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						TTCACGCCCCCTGAAGCGGGG	0.607													T	113629392	C	T	113629392	2	4	155	1	0	0	0	0	0	0	0	1	1710	680	24	2		2	C12orf52	12	113629392	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	702482	113629392	20222503	59	10696											
DNAH10	196385	broad.mit.edu	37	chr12	124393905	124393905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaaaacagccaagggcGtgatgtccgacccgaatttc	12	7	11	11	3	0	1	0	1	0	0	2	4	1	2	3	2	2	0	3	2	4	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:124393905G>A	uc001uft.4	+	56	9584	c.9559G>A	c.(9559-9561)Gtg>Atg	p.V3187M		NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	3187	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AGCCAAGGGCGTGATGTCCGA	0.502													A	124393905	G	A	124393905	3	1	155	1	0	0	0	0	1	0	0	0	4637	1145	40	1	9785	1	DNAH10	12	124393905	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	10764513	124393905	9457990	60	10697											
GPR133	283383	broad.mit.edu	37	chr12	131475583	131475583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctttattgtcttcaaCgctgccaagcctcttcatga	8	14	7	12	1	4	1	2	1	2	0	4	1	4	1	2	0	4	3	2	0	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr12:131475583C>T	uc010tbm.2	+	7	1425	c.866C>T	c.(865-867)aCg>aTg	p.T289M	GPR133_uc001uit.4_Missense_Mutation_p.T257M	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	257					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TTGTCTTCAACGCTGCCAAGC	0.478													T	131475583	C	T	131475583	3	4	155	1	0	0	0	0	1	0	0	0	6697	536	19	1	796	1	GPR133	12	131475583	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	7081678	131475583	2376312	61	10698											
MDGA2	161357	broad.mit.edu	37	chr14	47389235	47389235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctgatgcccaaccggtAtgcaacaatccgatccactg	10	8	8	15	2	0	1	0	1	0	0	2	2	2	1	5	1	5	2	5	1	4	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:47389235A>G	uc001wwj.4	-	9	2376	c.2218T>C	c.(2218-2220)Tac>Cac	p.Y740H	MDGA2_uc001wwi.4_Missense_Mutation_p.Y442H|MDGA2_uc010ani.3_Missense_Mutation_p.Y231H	NM_001113498	NP_878250	Q7Z553	MDGA2_HUMAN	Homo sapiens MAM domain containing glycosylphosphatidylinositol anchor 2 (MDGA2), transcript variant 1, mRNA.	671					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CCCAACCGGTATGCAACAATC	0.423													G	47389235	A	G	47389235	3	3	155	1	0	0	0	0	1	0	0	0	9482	449	16	3	891	3	MDGA2	14	47389235	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08		47389235	59960305	62	10699											
SYNE2	23224	broad.mit.edu	37	chr14	64686074	64686074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaaatgttaaagatGgcaaagcctccctctgatat	13	10	10	8	0	1	2	0	1	1	1	2	4	2	3	2	2	2	3	2	2	5	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:64686074G>A	uc001xgl.3	+	109	20036	c.19806G>A	c.(19804-19806)atG>atA	p.M6602I	SYNE2_uc001xgm.3_Missense_Mutation_p.M6579I|SYNE2_uc010apy.3_Missense_Mutation_p.M2964I|SYNE2_uc001xgn.3_Missense_Mutation_p.M1541I|SYNE2_uc021rui.1_Missense_Mutation_p.M1540I|SYNE2_uc001xgo.3_Non-coding_Transcript|SYNE2_uc010aqa.3_Missense_Mutation_p.M549I|SYNE2_uc001xgq.3_Missense_Mutation_p.M944I|SYNE2_uc001xgr.3_Missense_Mutation_p.M362I|SYNE2_uc010tsi.2_Missense_Mutation_p.M236I|SYNE2_uc001xgs.3_Missense_Mutation_p.M236I|SYNE2_uc001xgt.3_Missense_Mutation_p.M110I	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	6579					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTTAAAGATGGCAAAGCCTC	0.433													A	64686074	G	A	64686074	3	1	155	1	0	0	0	0	1	0	0	0	15543	1348	47	2	20240	2	SYNE2	14	64686074	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	17296839	64686074	42663466	63	10700											
LTBP2	4053	broad.mit.edu	37	chr14	75078500	75078500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgccgcagtcgattcgCgtctccaccagccggctcgt	5	7	13	16	7	1	0	0	0	1	0	5	1	1	0	4	2	1	2	4	2	0	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:75078500C>T	uc001xqa.3	-	0	535	c.148G>A	c.(148-150)Gcg>Acg	p.A50T		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGTCGATTCGCGTCTCCACCA	0.692													T	75078500	C	T	75078500	3	4	155	1	0	0	0	0	1	0	0	0	9144	768	27	1	5461	1	LTBP2	14	75078500	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	10392426	75078500	32271040	64	10701											
AK7	122481	broad.mit.edu	37	chr14	96875256	96875256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgacggtgatgacttgggCgcgctccaaagccctggacc	7	7	14	13	4	0	2	0	2	0	0	2	4	1	3	3	3	1	1	3	3	1	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:96875256C>T	uc001yfn.2	+	3	520	c.476C>T	c.(475-477)gCg>gTg	p.A159V		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	159					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity	p.W158R(1)		breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		ATGACTTGGGCGCGCTCCAAA	0.473													T	96875256	C	T	96875256	3	4	155	1	0	0	0	0	1	0	0	0	444	768	27	1	490	1	AK7	14	96875256	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	21796756	96875256	10474284	65	10702											
PACS2	23241	broad.mit.edu	37	chr14	105859121	105859121	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggctgcccagcagcggCgaggctgcagccacgcccac	8	2	14	17	3	0	0	0	0	0	0	0	1	0	0	3	3	6	5	3	3	0	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr14:105859121C>G	uc001yqu.3	+	22	2925	c.2421C>G	c.(2419-2421)ggC>ggG	p.G807G	PACS2_uc001yqs.2_Silent_p.G717G|PACS2_uc001yqt.3_Silent_p.G792G|PACS2_uc001yqv.3_Silent_p.G796G	NM_001100913	NP_001094383	Q86VP3	PACS2_HUMAN	Homo sapiens phosphofurin acidic cluster sorting protein 2 (PACS2), transcript variant 1, mRNA.	792					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		CCAGCAGCGGCGAGGCTGCAG	0.612													G	105859121	C	G	105859121	2	3	155	1	0	0	0	0	0	0	0	1	11449	755	27	4		4	PACS2	14	105859121	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	8983865	105859121	1490419	66	10703											
TRPM1	4308	broad.mit.edu	37	chr15	31295059	31295059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctattgatgctgctttgccGgagaagatacgttgcctcac	8	12	11	10	2	1	3	1	1	0	2	1	4	1	3	2	1	5	4	2	1	3	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr15:31295059G>A	uc021sia.1	-	26	4209	c.3895C>T	c.(3895-3897)Cgg>Tgg	p.R1299W	TRPM1_uc010azy.3_Missense_Mutation_p.R1167W|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R1282W|TRPM1_uc001zfm.3_Missense_Mutation_p.R1260W	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	1260					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity	p.R1260W(1)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CTGCTTTGCCGGAGAAGATAC	0.473													A	31295059	G	A	31295059	3	1	155	1	0	0	0	0	1	0	0	0	16686	1115	39	1	1037	1	TRPM1	15	31295059	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08		31295059	71236333	67	10704											
FBXL16	146330	broad.mit.edu	37	chr16	745854	745854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggctggaccacagccCggcctcggtgaagtcgttgc	6	7	14	14	3	1	1	1	1	0	0	3	2	1	2	3	4	2	3	3	4	1	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:745854C>T	uc021taa.1	-	2	1031	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	FBXL16_uc002cja.3_5'Flank|FBXL16_uc002cjb.3_Missense_Mutation_p.G23R	NM_153350	NP_699181	Q8N461	FXL16_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 16 (FBXL16), mRNA.	235										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GACCACAGCCCGGCCTCGGTG	0.672													T	745854	C	T	745854	3	4	155	1	0	0	0	0	1	0	0	0	5761	652	23	1	752	1	FBXL16	16	745854	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		745854	89608899	68	10705											
CHTF18	63922	broad.mit.edu	37	chr16	839297	839297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggagccgccccctcccgactCctcgccgacggacatcaccc	6	4	9	22	5	1	0	1	0	0	0	4	4	3	2	7	2	1	0	7	2	0	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:839297C>G	uc002ckf.4	+	1	521	c.458C>G	c.(457-459)tCc>tGc	p.S153C	RPUSD1_uc002cka.3_5'Flank|RPUSD1_uc002ckb.3_5'Flank|CHTF18_uc010uus.1_Missense_Mutation_p.S125C|CHTF18_uc010bre.1_Non-coding_Transcript|CHTF18_uc002cke.4_Missense_Mutation_p.S125C|CHTF18_uc010brf.3_5'UTR|CHTF18_uc002ckg.4_Intron	NM_022092	NP_071375	Q8WVB6	CTF18_HUMAN	Homo sapiens CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae) (CHTF18), mRNA.	125					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CCTCCCGACTCCTCGCCGACG	0.662													G	839297	C	G	839297	3	3	155	1	0	0	0	0	1	0	0	0	3444	855	30	4	384	4	CHTF18	16	839297	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	93443	839297	89515456	69	10706											
GP2	2813	broad.mit.edu	37	chr16	20328646	20328646	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgagaaccggctttccgaGgactgcccattctcctccac	8	9	8	16	2	1	1	0	1	1	1	4	4	3	2	5	2	2	1	5	2	1	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:20328646G>T	uc002dgv.3	-	8	1397	c.1314C>A	c.(1312-1314)tcC>tcA	p.S438S	GP2_uc002dgw.3_Silent_p.S435S|GP2_uc002dgx.3_Silent_p.S291S|GP2_uc002dgy.3_Silent_p.S288S	NM_001007240	NP_001007241	P55259	GP2_HUMAN	Homo sapiens glycoprotein 2 (zymogen granule membrane) (GP2), transcript variant 1, mRNA.	438	ZP.					anchored to membrane|extracellular region|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GGCTTTCCGAGGACTGCCCAT	0.468													T	20328646	G	T	20328646	2	4	155	1	0	0	0	0	0	0	0	1	6636	987	35	4		4	GP2	16	20328646	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	19489349	20328646	70026107	70	10707											
DNAH3	55567	broad.mit.edu	37	chr16	21053361	21053361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatttaccttgagattgtcGggcagttcagccctgccagc	7	11	11	12	1	1	1	1	1	0	1	2	2	1	1	3	1	4	3	3	1	1	5	rs150869091	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:21053361G>A	uc010vbe.2	-	31	4626	c.4626C>T	c.(4624-4626)ccC>ccT	p.P1542P		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1542	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGAGATTGTCGGGCAGTTCAG	0.512													A	21053361	G	A	21053361	2	1	155	1	0	0	0	0	0	0	0	1	4642	1103	39	1		1	DNAH3	16	21053361	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	724715	21053361	69301392	71	10708											
ZNF423	23090	broad.mit.edu	37	chr16	49671646	49671646	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagagatgttgccaaactGcatcacagggtaggcatggt	11	8	14	8	0	1	1	1	0	0	1	1	2	1	1	1	4	3	5	1	4	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr16:49671646G>C	uc002efs.3	-	4	1715	c.1417C>G	c.(1417-1419)Cag>Gag	p.Q473E	ZNF423_uc010vgn.2_Missense_Mutation_p.Q356E	NM_015069	NP_055884	Q2M1K9	ZN423_HUMAN	Homo sapiens zinc finger protein 423 (ZNF423), mRNA.	473					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGCCAAACTGCATCACAGGG	0.577													C	49671646	G	C	49671646	3	2	155	1	0	0	0	0	1	0	0	0	17999	1328	46	4	2457	4	ZNF423	16	49671646	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	28618285	49671646	40683107	72	10709											
OR1D2	4991	broad.mit.edu	37	chr17	2995386	2995386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtgtttatctaggagtCttcccagagccccatgcatg	10	12	9	10	0	2	1	0	0	2	1	3	2	3	2	3	1	2	2	3	1	4	5			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:2995386C>A	uc010vrb.2	-	0	905	c.905G>T	c.(904-906)aGa>aTa	p.R302I		NM_002548	NP_002539	P34982	OR1D2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily D, member 2 (OR1D2), mRNA.	302					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						ATCTAGGAGTCTTCCCAGAGC	0.463													A	2995386	C	A	2995386	3	1	155	1	0	0	0	0	1	0	0	0	11029	913	32	4	36	4	OR1D2	17	2995386	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		2995386	78199824	73	10710											
NF1	4763	broad.mit.edu	37	chr17	29508439	29508439	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaaaattgtgttttttccaGaaacagcatttaaatttaaa	17	16	4	4	0	0	1	0	0	0	1	1	1	1	1	1	0	2	2	1	0	8	9	rs66734387		TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:29508439G>A	uc002hgg.3	+	6	970	c.587_splice	c.e6-1	p.E196_splice	NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	196					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTTTTCCAGAAACAGCATT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29508439	G	A	29508439	5	1	155	1	0	0	0	0	0	0	1	0	10432	956	33	2	608	2	NF1	17	29508439	Splice_Site	SNP	G	TCGA-19-2620-01A-01D-1495-08	26513053	29508439	51686771	74	10711											
WNT9B	7484	broad.mit.edu	37	chr17	44949992	44949992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgaagctgtcccggCggcagaagcagctctgccgg	7	6	14	14	3	1	2	0	1	1	1	2	2	2	2	3	3	5	5	3	3	2	0			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:44949992C>T	uc002ikw.1	+	1	224	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	WNT9B_uc002ikx.1_Missense_Mutation_p.R63W	NM_003396	NP_003387	O14905	WNT9B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9B (WNT9B), mRNA.	63					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCTGTCCCGGCGGCAGAAGCA	0.682													T	44949992	C	T	44949992	3	4	155	1	0	0	0	0	1	0	0	0	17501	759	27	1	193	1	WNT9B	17	44949992	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	15441553	44949992	36245218	75	10712											
IGF2BP1	10642	broad.mit.edu	37	chr17	47118832	47118832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgaagaaggtagagcAagataccgagacaaaaatca	20	4	10	7	1	1	5	1	1	0	4	1	7	1	5	2	1	3	2	2	1	8	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:47118832A>C	uc002iom.3	+	7	1245	c.911A>C	c.(910-912)cAa>cCa	p.Q304P	IGF2BP1_uc010dbj.3_Missense_Mutation_p.Q165P	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	304	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AAGGTAGAGCAAGATACCGAG	0.498													C	47118832	A	C	47118832	3	2	155	1	0	0	0	0	1	0	0	0	7631	130	5	5	941	5	IGF2BP1	17	47118832	Missense_Mutation	SNP	A	TCGA-19-2620-01A-01D-1495-08	2168840	47118832	34076378	76	10713											
SDK2	54549	broad.mit.edu	37	chr17	71418469	71418469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttccccacgtcgttgaCggcacaaagacggaactggt	9	9	10	13	4	0	2	0	1	0	1	3	3	2	3	3	3	1	2	3	3	2	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr17:71418469C>T	uc010dfm.3	-	14	2002	c.2002G>A	c.(2002-2004)Gtc>Atc	p.V668I	SDK2_uc010dfn.2_Missense_Mutation_p.V347I	NM_001144952	NP_001138424	Q58EX2	SDK2_HUMAN	Homo sapiens sidekick cell adhesion molecule 2 (SDK2), mRNA.	668	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACGTCGTTGACGGCACAAAGA	0.617													T	71418469	C	T	71418469	3	4	155	1	0	0	0	0	1	0	0	0	14062	536	19	1	4640	1	SDK2	17	71418469	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	24299637	71418469	9776741	77	10714											
LAMA1	284217	broad.mit.edu	37	chr18	6999962	6999962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcgtcacaacggaaatCgtggtccccttccaagacac	12	6	9	14	3	1	1	1	0	0	1	4	2	3	2	3	3	1	0	3	3	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:6999962C>T	uc002knm.3	-	30	4511	c.4417G>A	c.(4417-4419)Gat>Aat	p.D1473N	LAMA1_uc010wzj.2_Missense_Mutation_p.D949N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1473	Laminin EGF-like 16.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAACGGAAATCGTGGTCCCCT	0.423													T	6999962	C	T	6999962	3	4	155	1	0	0	0	0	1	0	0	0	8664	884	31	1	4942	1	LAMA1	18	6999962	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		6999962	71077286	78	10715											
RIOK3	8780	broad.mit.edu	37	chr18	21043044	21043044	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtttttcctgaagttgcGtaagtaaaattcacaaatac	13	13	7	8	2	1	1	1	1	0	0	2	1	2	1	2	0	2	4	2	0	6	7			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr18:21043044G>A	uc002kui.4	+	2	796	c.179_splice	c.e2+1	p.A60_splice	RIOK3_uc010dls.3_Splice_Site_p.A60_splice|RIOK3_uc010xas.2_Splice_Site_p.A60_splice	NM_003831	NP_003822	O14730	RIOK3_HUMAN	Homo sapiens RIO kinase 3 (yeast) (RIOK3), mRNA.	60					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CTGAAGTTGCGTAAGTAAAAT	0.363													A	21043044	G	A	21043044	5	1	155	1	0	0	0	0	0	0	1	0	13470	1159	40	1	186	1	RIOK3	18	21043044	Splice_Site	SNP	G	TCGA-19-2620-01A-01D-1495-08	14043082	21043044	57034204	79	10716											
DOCK6	57572	broad.mit.edu	37	chr19	11353971	11353971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagttagcgtggctggaCggaagccagagaagctgcag	11	6	16	8	2	0	2	0	1	0	1	0	5	0	4	1	3	4	4	1	3	3	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:11353971C>T	uc002mqs.4	-	11	1390	c.1349G>A	c.(1348-1350)cGt>cAt	p.R450H		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	450					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R450C(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CGTGGCTGGACGGAAGCCAGA	0.677											OREG0025252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11353971	C	T	11353971	3	4	155	1	0	0	0	0	1	0	0	0	4730	536	19	1	4942	1	DOCK6	19	11353971	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		11353971	47775012	80	10717											
OR7A10	390892	broad.mit.edu	37	chr19	14952342	14952342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccggtcataggccatcacGgtcagaaggaagttatccaa	14	7	10	10	2	3	1	3	0	0	1	4	2	4	2	3	4	1	1	3	4	6	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:14952342G>A	uc002mzx.1	-	0	348	c.348C>T	c.(346-348)acC>acT	p.T116T		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AGGCCATCACGGTCAGAAGGA	0.483													A	14952342	G	A	14952342	2	1	155	1	0	0	0	0	0	0	0	1	11290	1103	39	1		1	OR7A10	19	14952342	Silent	SNP	G	TCGA-19-2620-01A-01D-1495-08	3598371	14952342	44176641	81	10718											
FCGBP	8857	broad.mit.edu	37	chr19	40364217	40364217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgctcacactcagggcccgGgtagaagacctcgcccagtg	8	5	12	16	3	2	2	2	0	0	2	3	2	2	2	4	2	0	2	4	2	2	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:40364217G>A	uc002omp.4	-	30	14433	c.14425C>T	c.(14425-14427)Ccg>Tcg	p.P4809S		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4809						extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCAGGGCCCGGGTAGAAGACC	0.657													A	40364217	G	A	40364217	3	1	155	1	0	0	0	0	1	0	0	0	5827	1232	43	2	1816	2	FCGBP	19	40364217	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	25411875	40364217	18764766	82	10719											
EML2	24139	broad.mit.edu	37	chr19	46112931	46112931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgcatcagaccaccCgccactgtagcacactggtg	8	6	10	17	2	1	1	1	0	0	1	1	1	1	1	5	2	1	3	5	2	1	1			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:46112931C>T	uc010xxm.2	-	21	2616	c.2543G>A	c.(2542-2544)cGg>cAg	p.R848Q	EML2_uc002pcn.3_Missense_Mutation_p.R647Q|EML2_uc002pcp.3_Missense_Mutation_p.R531Q|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Missense_Mutation_p.R794Q	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	647					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		TCAGACCACCCGCCACTGTAG	0.537													T	46112931	C	T	46112931	3	4	155	1	0	0	0	0	1	0	0	0	5138	652	23	1	13	1	EML2	19	46112931	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	5748714	46112931	13016052	83	10720											
ELSPBP1	64100	broad.mit.edu	37	chr19	48525436	48525436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctaggaatttccgCgttggtccctggctttcctt	3	16	9	13	2	0	0	0	0	0	0	4	1	4	1	4	3	1	3	4	3	2	6			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr19:48525436C>T	uc002pht.3	+	5	702	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	175					single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		GGAATTTCCGCGTTGGTCCCT	0.453													T	48525436	C	T	48525436	3	4	155	1	0	0	0	0	1	0	0	0	5124	768	27	1	542	1	ELSPBP1	19	48525436	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08	2412505	48525436	10603547	84	10721											
PROKR2	128674	broad.mit.edu	37	chr20	5282952	5282952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggggaagaagtcacgaaCgatggtgaaaccgtagaagg	15	5	16	5	3	1	3	1	1	0	2	1	6	1	4	1	4	2	1	1	4	6	1	rs139399061	byFrequency	TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:5282952C>T	uc010zqw.2	-	1	897	c.889G>A	c.(889-891)Gtt>Att	p.V297I	PROKR2_uc010zqx.2_Missense_Mutation_p.V297I|PROKR2_uc010zqy.2_Missense_Mutation_p.V297I	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	297						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AAGTCACGAACGATGGTGAAA	0.562										HNSCC(71;0.22)			T	5282952	C	T	5282952	3	4	155	1	0	0	0	0	1	0	0	0	12639	536	19	1	268	1	PROKR2	20	5282952	Missense_Mutation	SNP	C	TCGA-19-2620-01A-01D-1495-08		5282952	57742568	85	10722											
SYCP2	10388	broad.mit.edu	37	chr20	58489299	58489299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaatgcctacctgtaaGtcataatctattaaaaaaat	17	13	3	8	0	3	0	1	0	2	0	3	0	3	0	2	0	3	1	2	0	10	6			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:58489299G>T	uc002yaz.3	-	9	781	c.642C>A	c.(640-642)gaC>gaA	p.D214E	SYCP2_uc010gju.1_Missense_Mutation_p.D115E	NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	214					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			CTACCTGTAAGTCATAATCTA	0.289													T	58489299	G	T	58489299	3	4	155	1	0	0	0	0	1	0	0	0	15529	1020	36	4	4090	4	SYCP2	20	58489299	Missense_Mutation	SNP	G	TCGA-19-2620-01A-01D-1495-08	53206347	58489299	4536221	86	10723											
ARFGAP1	55738	broad.mit.edu	37	chr20	61907550	61907550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggcttggggttcacctCaggtcagtgtcctgccgctc	3	10	14	14	3	3	0	3	0	0	0	5	0	4	0	3	4	1	3	3	4	0	2			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chr20:61907550C>A	uc002yem.3	+	2	280	c.168C>A	c.(166-168)ctC>ctA	p.L56L	ARFGAP1_uc011aas.1_Intron|ARFGAP1_uc011aat.1_5'UTR|ARFGAP1_uc002yel.3_Silent_p.L56L|ARFGAP1_uc002yen.3_Silent_p.L56L	NM_018209	NP_060679	Q8N6T3	ARFG1_HUMAN	Homo sapiens ADP-ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant 1, mRNA.	56	Arf-GAP.				COPI coating of Golgi vesicle|protein transport|regulation of ARF GTPase activity|retrograde vesicle-mediated transport, Golgi to ER	cytosol|Golgi-associated vesicle membrane	ARF GTPase activator activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)	13	all_cancers(38;1.59e-09)					GGGTTCACCTCAGGTCAGTGT	0.642													A	61907550	C	A	61907550	2	1	155	1	0	0	0	0	0	0	0	1	852	813	29	4		4	ARFGAP1	20	61907550	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08	3418251	61907550	1117970	87	10724											
KLHL13	90293	broad.mit.edu	37	chrX	117043736	117043736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagttctcatgaaatccacCgtttgcacgtaattaatgag	12	13	7	9	2	2	2	2	2	1	0	4	2	3	2	2	0	1	4	2	0	3	4			TCGA-19-2620-01A-01D-1495-08	TCGA-19-2620-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6de41ac1-229b-40b9-a494-5588c284351d	ede6d42c-895a-46f7-a0e3-11b152970581	g.chrX:117043736C>T	uc011mtp.2	-	5	1036	c.903G>A	c.(901-903)acG>acA	p.T301T	KLHL13_uc004eqk.3_Silent_p.T247T|KLHL13_uc004eql.3_Silent_p.T298T|KLHL13_uc011mtn.2_Silent_p.T138T|KLHL13_uc011mto.2_Silent_p.T292T|KLHL13_uc011mtq.2_Silent_p.T282T|KLHL13_uc004eqm.3_Silent_p.T256T|KLHL13_uc022cde.1_Silent_p.T282T	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	298					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TGAAATCCACCGTTTGCACGT	0.423													T	117043736	C	T	117043736	2	4	155	1	0	0	0	0	0	0	0	1	8427	639	23	1		1	KLHL13	23	117043736	Silent	SNP	C	TCGA-19-2620-01A-01D-1495-08		117043736	38226824	88	10725											
TAS1R1	80835	broad.mit.edu	37	chr1	6631015	6631015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacctcttccaggctatgCggcttggggttgaggagata	8	10	13	10	1	1	2	0	1	1	1	2	3	2	2	3	5	1	3	3	5	2	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:6631015C>T	uc001ant.3	+	1	334	c.238C>T	c.(238-240)Cgg>Tgg	p.R80W	TAS1R1_uc001anu.3_Missense_Mutation_p.R80W|TAS1R1_uc021ofp.1_Missense_Mutation_p.R2W	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	80					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CCAGGCTATGCGGCTTGGGGT	0.532													T	6631015	C	T	6631015	3	4	156	1	0	0	0	0	1	0	0	0	15659	759	27	1	244	1	TAS1R1	1	6631015	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		6631015	242619606	1	10726											
RERE	473	broad.mit.edu	37	chr1	8419927	8419927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttctgctcagcctcgCgcttggccttctcaatggcc	3	12	11	15	2	3	0	2	0	2	0	5	0	3	0	3	3	2	3	3	3	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:8419927C>T	uc001ape.3	-	19	4325	c.3515G>A	c.(3514-3516)cGc>cAc	p.R1172H	RERE_uc001apf.3_Missense_Mutation_p.R1172H|RERE_uc001apd.3_Missense_Mutation_p.R618H	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1172					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGCCTCGCGCTTGGCCTT	0.662													T	8419927	C	T	8419927	3	4	156	1	0	0	0	0	1	0	0	0	13319	768	27	1	1205	1	RERE	1	8419927	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1788912	8419927	240830694	2	10727											
HTR6	3362	broad.mit.edu	37	chr1	19992747	19992747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctgctgggctggcaCgagctgggccacgcacggcc	4	5	15	17	3	0	0	0	0	0	0	0	1	0	0	4	4	3	6	4	4	0	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:19992747C>T	uc001bcl.3	+	0	968	c.501C>T	c.(499-501)caC>caT	p.H167H		NM_000871	NP_000862	P50406	5HT6R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 6 (HTR6), mRNA.	167					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	TGGGCTGGCACGAGCTGGGCC	0.711													T	19992747	C	T	19992747	2	4	156	1	0	0	0	0	0	0	0	1	7509	535	19	1		1	HTR6	1	19992747	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	11572820	19992747	229257874	3	10728											
RNF19B	127544	broad.mit.edu	37	chr1	33402782	33402782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacatggagcgagtcctcCgtgctgcttccactcaccag	8	9	10	14	2	1	1	1	1	0	0	4	3	4	2	4	1	4	2	4	1	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:33402782C>T	uc010oho.2	-	8	1824	c.1824G>A	c.(1822-1824)acG>acA	p.T608T	RNF19B_uc001bwm.4_3'UTR|RNF19B_uc010ohp.2_Silent_p.T607T	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	608						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCGAGTCCTCCGTGCTGCTTC	0.502													T	33402782	C	T	33402782	2	4	156	1	0	0	0	0	0	0	0	1	13562	639	23	1		1	RNF19B	1	33402782	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	13410035	33402782	215847839	4	10729											
COL9A2	1298	broad.mit.edu	37	chr1	40770007	40770007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccttgtctcctttgacGcctggcaagccttggggccc	4	10	12	15	1	1	1	0	1	1	0	2	1	1	1	5	4	1	2	5	4	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:40770007G>A	uc001cfh.1	-	23	1384	c.1272C>T	c.(1270-1272)ggC>ggT	p.G424G	COL9A2_uc001cfi.1_Silent_p.G243G	NM_001852	NP_001843	Q14055	CO9A2_HUMAN	Homo sapiens collagen, type IX, alpha 2 (COL9A2), mRNA.	424	Triple-helical region 3 (COL3).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CTCCTTTGACGCCTGGCAAGC	0.607													A	40770007	G	A	40770007	2	1	156	1	0	0	0	0	0	0	0	1	3739	1074	38	1		1	COL9A2	1	40770007	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	7367225	40770007	208480614	5	10730											
LRRC7	57554	broad.mit.edu	37	chr1	70504762	70504762	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gaagtgaaagccgaaaagagGataccacccccttttcaaca	16	6	8	11	1	1	2	1	1	0	1	1	5	1	3	4	1	3	0	4	1	6	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:70504762G>C	uc001dep.3	+	18	3171	c.3141G>C	c.(3139-3141)agG>agC	p.R1047S	LRRC7_uc009wbg.3_Missense_Mutation_p.R331S|LRRC7_uc001deq.3_Missense_Mutation_p.R288S	NM_020794	NP_065845	Q96NW7	LRRC7_HUMAN	Homo sapiens leucine rich repeat containing 7 (LRRC7), mRNA.	1047						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGAAAAGAGGATACCACCCC	0.448													C	70504762	G	C	70504762	3	2	156	1	0	0	0	0	1	0	0	0	9090	1165	41	4	3215	4	LRRC7	1	70504762	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	29734755	70504762	178745859	6	10731											
PTGFR	5737	broad.mit.edu	37	chr1	78958623	78958623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagaagtccaaggcatcGtttctgcttttggccagtgg	9	11	12	9	1	1	2	0	0	1	2	3	2	2	2	2	3	1	3	2	3	2	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:78958623G>A	uc001din.3	+	1	461	c.195G>A	c.(193-195)tcG>tcA	p.S65S	PTGFR_uc001dim.3_Silent_p.S65S	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	65					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.S65S(3)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCAAGGCATCGTTTCTGCTTT	0.423													A	78958623	G	A	78958623	2	1	156	1	0	0	0	0	0	0	0	1	12835	1132	40	1		1	PTGFR	1	78958623	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	8453861	78958623	170291998	7	10732											
GBP4	115361	broad.mit.edu	37	chr1	89650937	89650937	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctggaatattcaggctcTtaaatacgtgagccaagata	14	11	8	8	1	2	2	1	1	1	1	2	3	2	3	2	2	3	1	2	2	8	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:89650937T>A	uc001dnb.3	-	10	2039	c.1923A>T	c.(1921-1923)taA>taT	p.*641Y		NM_052941	NP_443173	Q96PP9	GBP4_HUMAN	Homo sapiens guanylate binding protein 4 (GBP4), mRNA.	0						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		ATTCAGGCTCTTAAATACGTG	0.343													A	89650937	T	A	89650937	4	1	156	1	0	0	0	0	0	0	0	0	6330	1616	56	5	3	5	GBP4	1	89650937	Nonstop_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	10692314	89650937	159599684	8	10733											
FLG	2312	broad.mit.edu	37	chr1	152283564	152283564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctaacactggatccCtggtgcctgcttgtcctgga	5	12	11	13	0	0	0	0	0	0	0	3	2	3	2	4	4	3	2	4	4	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:152283564C>A	uc001ezu.1	-	2	3834	c.3798G>T	c.(3796-3798)caG>caT	p.Q1266H	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1266	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACTGGATCCCTGGTGCCTGC	0.562									Ichthyosis				A	152283564	C	A	152283564	3	1	156	1	0	0	0	0	1	0	0	0	5971	680	24	4	8391	4	FLG	1	152283564	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	62632627	152283564	96967057	9	10734											
OR6N2	81442	broad.mit.edu	37	chr1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaatgatttccttgttacGaagactgtagataattggat	12	17	8	4	1	0	3	0	1	0	2	1	5	1	4	1	1	1	2	1	1	5	8	rs144962739		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:158746549G>A	uc010pir.2	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418													A	158746549	G	A	158746549	3	1	156	1	0	0	0	0	1	0	0	0	11283	1058	37	1	79	1	OR6N2	1	158746549	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	6462985	158746549	90504072	10	10735											
IGSF8	93185	broad.mit.edu	37	chr1	160064843	160064843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttgaagacagcataggaGaactgggtatccttggtact	12	10	12	7	0	0	3	0	1	0	2	1	5	1	3	1	3	3	3	1	3	5	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:160064843G>A	uc001fva.3	-	1	303	c.258C>T	c.(256-258)ttC>ttT	p.F86F	IGSF8_uc001fuz.3_Silent_p.F86F|IGSF8_uc009wtf.3_Silent_p.F86F	NM_052868	NP_443100	Q969P0	IGSF8_HUMAN	Homo sapiens immunoglobulin superfamily, member 8 (IGSF8), transcript variant 1, mRNA.	86	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.Q85L(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CAGCATAGGAGAACTGGGTAT	0.602													A	160064843	G	A	160064843	2	1	156	1	0	0	0	0	0	0	0	1	7662	933	33	2		2	IGSF8	1	160064843	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	1318294	160064843	89185778	11	10736											
SEC16B	89866	broad.mit.edu	37	chr1	177927423	177927423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgatgaggttggccacaggGggctgccgcttgtacttctc	5	12	14	10	1	1	2	0	2	1	0	2	2	1	2	2	4	2	4	2	4	1	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:177927423G>A	uc001glj.1	-	14	2078	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	SEC16B_uc001glk.1_Silent_p.P80P|SEC16B_uc001glh.1_Silent_p.P62P|SEC16B_uc001gli.1_Silent_p.P403P|SEC16B_uc009wwz.1_Silent_p.P62P|SEC16B_uc001gll.4_Silent_p.P404P	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	403					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TGGCCACAGGGGGCTGCCGCT	0.587													A	177927423	G	A	177927423	2	1	156	1	0	0	0	0	0	0	0	1	14080	1219	43	2		2	SEC16B	1	177927423	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	17862580	177927423	71323198	12	10737											
GPATCH2	55105	broad.mit.edu	37	chr1	217688167	217688167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacactgagtactcactcaTggtgatgagaatccggggaa	13	8	11	9	1	2	3	2	3	0	1	3	5	3	4	1	3	1	1	1	3	3	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:217688167T>C	uc001hlf.1	-	5	1259	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R		NM_018040	NP_060510	Q9NW75	GPTC2_HUMAN	Homo sapiens G patch domain containing 2 (GPATCH2), mRNA.	388						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		TACTCACTCATGGTGATGAGA	0.353													C	217688167	T	C	217688167	3	2	156	1	0	0	0	0	1	0	0	0	6645	1464	51	3	443	3	GPATCH2	1	217688167	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	39760744	217688167	31562454	13	10738											
NVL	4931	broad.mit.edu	37	chr1	224514105	224514105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttacctgtacactcttTgtaaatcagacgctaagact	12	15	5	9	1	2	2	1	0	1	2	2	2	2	2	1	0	2	3	1	0	6	7			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr1:224514105T>C	uc001hok.3	-	1	181	c.119A>G	c.(118-120)cAa>cGa	p.Q40R	NVL_uc001hol.3_Intron|NVL_uc010pvd.2_Missense_Mutation_p.Q40R|NVL_uc010pve.2_Intron|NVL_uc010pvf.2_Intron|NVL_uc010pvg.2_Missense_Mutation_p.Q40R	NM_002533	NP_002524	O15381	NVL_HUMAN	Homo sapiens nuclear VCP-like (NVL), transcript variant 1, mRNA.	40						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		GTACACTCTTTGTAAATCAGA	0.318													C	224514105	T	C	224514105	3	2	156	1	0	0	0	0	1	0	0	0	10856	1812	63	3	2539	3	NVL	1	224514105	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	6825938	224514105	24736516	14	10739											
DYSF	8291	broad.mit.edu	37	chr2	71909724	71909724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaagttcatcctgtggCggcgtttccggtgggccatc	5	11	13	12	3	1	1	1	1	0	0	4	1	3	1	4	4	0	2	4	4	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:71909724C>T	uc010fen.3	+	54	6379	c.6238C>T	c.(6238-6240)Cgg>Tgg	p.R2080W	DYSF_uc010fei.3_Missense_Mutation_p.R2058W|DYSF_uc010feh.3_Missense_Mutation_p.R2048W|DYSF_uc002sig.4_Missense_Mutation_p.R2027W|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.R2072W|DYSF_uc010fee.3_Missense_Mutation_p.R2062W|DYSF_uc010fef.3_Missense_Mutation_p.R2079W|DYSF_uc002sie.3_Missense_Mutation_p.R2041W|DYSF_uc010feo.3_Missense_Mutation_p.R2073W|DYSF_uc010fej.3_Missense_Mutation_p.R2049W|DYSF_uc010fel.3_Missense_Mutation_p.R2028W|DYSF_uc010fem.3_Missense_Mutation_p.R2063W|DYSF_uc002sif.3_Missense_Mutation_p.R2042W|DYSF_uc010fek.3_Missense_Mutation_p.R2059W|DYSF_uc010yqy.2_Missense_Mutation_p.R922W|DYSF_uc010yqz.2_Missense_Mutation_p.R802W	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	2041						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CATCCTGTGGCGGCGTTTCCG	0.582													T	71909724	C	T	71909724	3	4	156	1	0	0	0	0	1	0	0	0	4898	759	27	1	6594	1	DYSF	2	71909724	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		71909724	171289649	15	10740											
ASTL	431705	broad.mit.edu	37	chr2	96798441	96798441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcatccctccactgcGccccacactcgagaagcacc	9	5	6	21	2	0	1	0	0	0	1	3	2	2	1	6	0	3	2	6	0	1	0	rs145986421		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:96798441G>A	uc010yui.2	-	5	475	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_001002036	NP_001002036	Q6HA08	ASTL_HUMAN	Homo sapiens astacin-like metallo-endopeptidase (M12 family) (ASTL), mRNA.	159					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCTCCACTGCGCCCCACACTC	0.627													A	96798441	G	A	96798441	3	1	156	1	0	0	0	0	1	0	0	0	1068	1087	38	1	835	1	ASTL	2	96798441	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	24888717	96798441	146400932	16	10741											
NEB	4703	broad.mit.edu	37	chr2	152470900	152470900	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgtcgcttacaaggatctGacacttcttggccagcacca	10	11	8	12	1	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	3	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:152470900G>A	uc021vrb.1	-	71	10791	c.10762C>T	c.(10762-10764)Cag>Tag	p.Q3588*	NEB_uc002txu.3_Nonsense_Mutation_p.Q3831*|NEB_uc021vrc.1_Nonsense_Mutation_p.Q3831*|NEB_uc010fnx.3_Nonsense_Mutation_p.Q3576*|NEB_uc021vrd.1_Nonsense_Mutation_p.Q3588*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3588					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACAAGGATCTGACACTTCTTG	0.527													A	152470900	G	A	152470900	4	1	156	1	0	0	0	0	0	1	0	0	10378	1299	45	2	14619	2	NEB	2	152470900	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	55672459	152470900	90728473	17	10742											
ZNF804A	91752	broad.mit.edu	37	chr2	185801478	185801478	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttatacaactacgaaaccatCaatttcctatagctgtaatc	15	13	3	10	1	1	0	1	0	0	0	3	1	2	0	2	0	5	2	2	0	9	7			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:185801478C>G	uc002uph.3	+	3	1949	c.1355C>G	c.(1354-1356)tCa>tGa	p.S452*		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	452						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACGAAACCATCAATTTCCTAT	0.333													G	185801478	C	G	185801478	4	3	156	1	0	0	0	0	0	1	0	0	18269	838	29	4	1369	4	ZNF804A	2	185801478	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	33330578	185801478	57397895	18	10743											
COL3A1	1281	broad.mit.edu	37	chr2	189851838	189851838	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctggagtagcagtaggAggactcgcaggctatcctgg	10	8	15	8	1	1	0	0	0	1	0	3	3	2	3	1	5	1	5	1	5	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189851838A>G	uc002uqj.1	+	4	618	c.501A>G	c.(499-501)ggA>ggG	p.G167G		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	167	Nonhelical region (N-terminal).				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TAGCAGTAGGAGGACTCGCAG	0.403													G	189851838	A	G	189851838	2	3	156	1	0	0	0	0	0	0	0	1	3719	291	11	3		3	COL3A1	2	189851838	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	4050360	189851838	53347535	19	10744											
COL3A1	1281	broad.mit.edu	37	chr2	189864035	189864035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctggtgcccctggtgaaCgtggacctcctggattggca	6	10	14	11	1	0	1	0	1	0	0	1	3	1	3	4	5	3	2	4	5	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:189864035C>A	uc002uqj.1	+	29	2164	c.2047C>A	c.(2047-2049)Cgt>Agt	p.R683S		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	683	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CCCTGGTGAACGTGGACCTCC	0.493													A	189864035	C	A	189864035	3	1	156	1	0	0	0	0	1	0	0	0	3719	536	19	4	2165	4	COL3A1	2	189864035	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	12197	189864035	53335338	20	10745											
ANKAR	150709	broad.mit.edu	37	chr2	190571779	190571779	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattaaaggaaataatataAtccatttatcagtgttaacc	18	14	4	5	0	1	0	1	0	0	0	2	1	2	1	2	1	1	1	2	1	9	8			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:190571779A>C	uc002uqw.2	+	8	2114	c.2026A>C	c.(2026-2028)Atc>Ctc	p.I676L	ANKAR_uc002uqu.3_Non-coding_Transcript	NM_144708	NP_653309	Q7Z5J8	ANKAR_HUMAN	Homo sapiens ankyrin and armadillo repeat containing (ANKAR), mRNA.	676						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAATAATATAATCCATTTATC	0.343													C	190571779	A	C	190571779	3	2	156	1	0	0	0	0	1	0	0	0	623	101	4	5	2056	5	ANKAR	2	190571779	Missense_Mutation	SNP	A	TCGA-19-2623-01A-01D-1495-08	707744	190571779	52627594	21	10746											
ZNF142	7701	broad.mit.edu	37	chr2	219507508	219507508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacccttaaccggtgcaagCgcagtttcgagttggtacca	9	10	11	11	3	0	0	0	0	0	0	1	1	0	0	3	2	5	6	3	2	4	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:219507508C>T	uc002vin.3	-	7	4167	c.3731G>A	c.(3730-3732)cGc>cAc	p.R1244H	ZNF142_uc002vil.3_Missense_Mutation_p.R1205H|ZNF142_uc010fvt.3_Missense_Mutation_p.R1081H|ZNF142_uc002vim.3_Missense_Mutation_p.R1081H	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CCGGTGCAAGCGCAGTTTCGA	0.542													T	219507508	C	T	219507508	3	4	156	1	0	0	0	0	1	0	0	0	17832	768	27	1	1344	1	ZNF142	2	219507508	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	28935729	219507508	23691865	22	10747											
TRPM8	79054	broad.mit.edu	37	chr2	234891861	234891861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggccaggtgcccagtgaCgtggatggtaagcctgactt	7	10	14	10	2	0	2	0	2	0	0	1	3	0	3	3	4	2	1	3	4	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr2:234891861C>T	uc002vvh.3	+	19	2794	c.2754C>T	c.(2752-2754)gaC>gaT	p.D918D	TRPM8_uc010fyj.3_Silent_p.D496D|TRPM8_uc010fyk.3_Non-coding_Transcript	NM_024080	NP_076985	Q7Z2W7	TRPM8_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 8 (TRPM8), mRNA.	918						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGCCCAGTGACGTGGATGGTA	0.592													T	234891861	C	T	234891861	2	4	156	1	0	0	0	0	0	0	0	1	16693	535	19	1		1	TRPM8	2	234891861	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	15384353	234891861	8307512	23	10748											
CAND2	23066	broad.mit.edu	37	chr3	12858462	12858462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacactggcagccctggaCgccctggcccagagccaggg	7	3	14	17	1	0	1	0	0	0	1	0	2	0	2	5	4	2	1	5	4	0	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:12858462C>T	uc003bxk.2	+	9	2080	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	CAND2_uc003bxj.2_Silent_p.D584D	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	677					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	p.D584D(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAGCCCTGGACGCCCTGGCCC	0.662													T	12858462	C	T	12858462	2	4	156	1	0	0	0	0	0	0	0	1	2642	535	19	1		1	CAND2	3	12858462	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08		12858462	185163968	24	10749											
SCN10A	6336	broad.mit.edu	37	chr3	38748876	38748876	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcctggccccctaagTgcagagagggccacactgtt	9	8	12	12	0	0	2	0	0	0	2	1	3	1	2	4	2	1	2	4	2	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:38748876T>C	uc003ciq.3	-	25	4282	c.4282_splice	c.e25-1	p.L1428_splice		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	1428					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GCCCCCTAAGTGCAGAGAGGG	0.512													C	38748876	T	C	38748876	5	2	156	1	0	0	0	0	0	0	1	0	14005	1710	59	3	1602	3	SCN10A	3	38748876	Splice_Site	SNP	T	TCGA-19-2623-01A-01D-1495-08	25890414	38748876	159273554	25	10750											
PCOLCE2	26577	broad.mit.edu	37	chr3	142557612	142557612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaataggtgctacttacGcaggtggactatcaccacaa	14	9	8	10	1	1	0	1	0	0	0	1	1	1	1	1	3	3	2	1	3	7	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr3:142557612G>A	uc003evd.3	-	5	1017	c.710_splice	c.e5+1	p.A237_splice		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	237	CUB 2.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						TGCTACTTACGCAGGTGGACT	0.378													A	142557612	G	A	142557612	3	1	156	1	0	0	0	0	1	0	0	0	11671	1101	38	1	557	1	PCOLCE2	3	142557612	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	103808736	142557612	55464818	26	10751											
GPR78	27201	broad.mit.edu	37	chr4	8582980	8582980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggacaccttcctggcgTccaacgcggcgctgagcgtg	5	8	13	15	5	0	1	0	1	0	0	3	2	3	2	4	3	2	1	4	3	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:8582980T>C	uc003glk.3	+	0	764	c.271T>C	c.(271-273)Tcc>Ccc	p.S91P	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	91					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CTTCCTGGCGTCCAACGCGGC	0.706													C	8582980	T	C	8582980	3	2	156	1	0	0	0	0	1	0	0	0	6764	1667	58	3	273	3	GPR78	4	8582980	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		8582980	182571296	27	10752											
NCAPG	64151	broad.mit.edu	37	chr4	17816578	17816578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgccaaaaattgtagggcGcaccaaggatgtgaaagagg	14	8	13	6	1	0	2	0	1	0	1	0	3	0	3	2	3	1	2	2	3	5	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:17816578G>A	uc003gpp.3	+	3	823	c.647G>A	c.(646-648)cGc>cAc	p.R216H	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	216					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATTGTAGGGCGCACCAAGGAT	0.398													A	17816578	G	A	17816578	3	1	156	1	0	0	0	0	1	0	0	0	10283	1087	38	1	661	1	NCAPG	4	17816578	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	9233598	17816578	173337698	28	10753											
LGI2	55203	broad.mit.edu	37	chr4	25014103	25014103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccgactggtagggtaaaGtctgatgaacaacaaaatct	17	8	9	7	1	2	2	0	2	2	0	2	3	2	2	1	2	3	2	1	2	8	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:25014103G>T	uc003grf.2	-	6	773	c.674C>A	c.(673-675)aCt>aAt	p.T225N		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	225						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTAGGGTAAAGTCTGATGAAC	0.473													T	25014103	G	T	25014103	3	4	156	1	0	0	0	0	1	0	0	0	8812	1029	36	4	971	4	LGI2	4	25014103	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	7197525	25014103	166140173	29	10754											
GABRG1	2565	broad.mit.edu	37	chr4	46043100	46043100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagtcaattttggcaatgcGtatgtgtatccttccttccc	8	15	8	10	1	1	1	1	0	0	1	4	1	4	1	3	1	1	3	3	1	4	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:46043100G>A	uc003gxb.3	-	8	1455	c.1303C>T	c.(1303-1305)Cgc>Tgc	p.R435C		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R435C(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTGGCAATGCGTATGTGTATC	0.403													A	46043100	G	A	46043100	3	1	156	1	0	0	0	0	1	0	0	0	6223	1145	40	1	98	1	GABRG1	4	46043100	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	21028997	46043100	145111176	30	10755											
UGT2B4	7363	broad.mit.edu	37	chr4	70361563	70361563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcagcagaagagctgaaGtccatttcatagacatcctg	13	10	9	9	0	2	4	2	1	0	3	4	4	4	4	2	0	2	3	2	0	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:70361563G>A	uc003hek.4	-	0	64	c.17C>T	c.(16-18)aCt>aTt	p.T6I	UGT2B4_uc011cap.2_Intron|UGT2B4_uc003hel.4_Missense_Mutation_p.T6I	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	6					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAGAGCTGAAGTCCATTTCAT	0.443													A	70361563	G	A	70361563	3	1	156	1	0	0	0	0	1	0	0	0	17063	1029	36	2	1593	2	UGT2B4	4	70361563	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	24318463	70361563	120792713	31	10756											
PF4	5196	broad.mit.edu	37	chr4	74847163	74847163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtggggcagtggggtccGgccttgatcacctccaggct	5	8	16	12	1	1	1	1	1	0	0	3	1	3	1	4	6	0	3	4	6	0	1	rs144253863		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:74847163G>A	uc003hhi.2	-	1	234	c.189C>T	c.(187-189)gcC>gcT	p.A63A		NM_002619	NP_002610	P02776	PLF4_HUMAN	Homo sapiens platelet factor 4 (PF4), mRNA.	63					cytokine-mediated signaling pathway|immune response|leukocyte chemotaxis|negative regulation of angiogenesis|negative regulation of apoptosis|negative regulation of cytolysis|negative regulation of megakaryocyte differentiation|negative regulation of MHC class II biosynthetic process|platelet activation|platelet degranulation|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|positive regulation of macrophage differentiation|positive regulation of tumor necrosis factor production	extracellular space|platelet alpha granule lumen	chemokine activity|heparin binding			kidney(1)|lung(1)	2	Breast(15;0.00136)		all cancers(17;0.0034)|Lung(101;0.196)		Drotrecogin alfa(DB00055)	AGTGGGGTCCGGCCTTGATCA	0.612													A	74847163	G	A	74847163	2	1	156	1	0	0	0	0	0	0	0	1	11829	1103	39	1		1	PF4	4	74847163	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	4485600	74847163	116307113	32	10757											
MEPE	56955	broad.mit.edu	37	chr4	88766796	88766796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctcctttcagtggggacgGccaaccttttaaggacattc	9	12	9	11	1	2	0	1	0	1	0	4	2	2	2	3	4	1	0	3	4	2	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:88766796G>A	uc021xpx.1	+	3	881	c.869G>A	c.(868-870)gGc>gAc	p.G290D	MEPE_uc021xpu.1_Missense_Mutation_p.G259D|MEPE_uc021xpv.1_Missense_Mutation_p.G146D|MEPE_uc021xpw.1_Missense_Mutation_p.G146D|MEPE_uc010ikn.3_Missense_Mutation_p.G146D|MEPE_uc003hqy.3_Missense_Mutation_p.G259D|MEPE_uc021xpy.1_Missense_Mutation_p.G146D	NM_001184697	NP_001171626	Q9NQ76	MEPE_HUMAN	Homo sapiens matrix extracellular phosphoglycoprotein (MEPE), transcript variant 5, mRNA.	259					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		AGTGGGGACGGCCAACCTTTT	0.453													A	88766796	G	A	88766796	3	1	156	1	0	0	0	0	1	0	0	0	9553	1203	42	2	786	2	MEPE	4	88766796	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	13919633	88766796	102387480	33	10758											
FAM13A	10144	broad.mit.edu	37	chr4	89668975	89668975	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcatcctgggagttaggTcctcttcagatatctttagt	7	14	10	10	1	3	1	1	0	2	1	5	2	5	2	3	2	0	2	3	2	3	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr4:89668975T>C	uc003hse.1	-	17	2397	c.2189A>G	c.(2188-2190)gAc>gGc	p.D730G	FAM13A_uc003hsa.1_Missense_Mutation_p.D201G|FAM13A_uc003hsb.1_Missense_Mutation_p.D404G|FAM13A_uc003hsd.1_Missense_Mutation_p.D404G|FAM13A_uc003hsc.1_Missense_Mutation_p.D390G|FAM13A_uc011cdq.1_Missense_Mutation_p.D376G|FAM13A_uc003hsf.1_Missense_Mutation_p.D316G|FAM13A_uc003hsg.1_Missense_Mutation_p.D201G	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	730					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GGGAGTTAGGTCCTCTTCAGA	0.398													C	89668975	T	C	89668975	3	2	156	1	0	0	0	0	1	0	0	0	5497	1667	58	3	910	3	FAM13A	4	89668975	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	902179	89668975	101485301	34	10759											
CDH18	1016	broad.mit.edu	37	chr5	19747074	19747074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctgacatttcaggcacaGtaacaatgtatggtccatct	12	13	7	9	0	3	1	1	1	2	0	4	1	4	1	1	2	1	3	1	2	4	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:19747074G>A	uc003jgd.3	-	3	1034	c.500C>T	c.(499-501)aCt>aTt	p.T167I	CDH18_uc011cnm.2_Missense_Mutation_p.T167I|CDH18_uc003jgc.3_Missense_Mutation_p.T167I|CDH18_uc021xwu.1_Missense_Mutation_p.T167I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	167	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V166A(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TTCAGGCACAGTAACAATGTA	0.338													A	19747074	G	A	19747074	3	1	156	1	0	0	0	0	1	0	0	0	3133	1029	36	2	1912	2	CDH18	5	19747074	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		19747074	161168186	35	10760											
HEATR7B2	133558	broad.mit.edu	37	chr5	41012778	41012778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgaggctctccagaccGtccagcatttcctctaggaa	8	10	11	12	1	2	2	0	1	2	1	5	3	4	3	4	3	1	3	4	3	2	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:41012778G>A	uc003jmj.4	-	29	3532	c.3042C>T	c.(3040-3042)gaC>gaT	p.D1014D	HEATR7B2_uc003jmi.4_Silent_p.D569D	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1014							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTCCAGACCGTCCAGCATTT	0.478													A	41012778	G	A	41012778	2	1	156	1	0	0	0	0	0	0	0	1	7090	1136	40	1		1	HEATR7B2	5	41012778	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	21265704	41012778	139902482	36	10761											
TTC37	9652	broad.mit.edu	37	chr5	94834176	94834176	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgataattactgtctttgTgtttgatgtgcttcagtaac	8	19	8	6	0	3	2	1	2	2	0	3	2	3	2	0	0	3	3	0	0	3	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:94834176T>A	uc003klb.3	-	32	3758	c.3461A>T	c.(3460-3462)cAc>cTc	p.H1154L		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1154							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						ACTGTCTTTGTGTTTGATGTG	0.448													A	94834176	T	A	94834176	3	1	156	1	0	0	0	0	1	0	0	0	16807	1696	59	5	1277	5	TTC37	5	94834176	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	53821398	94834176	86081084	37	10762											
SPOCK1	6695	broad.mit.edu	37	chr5	136476318	136476318	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcggtctggtagtcctGggtcacacacactttgtgag	7	10	14	10	1	2	1	1	1	1	0	3	1	3	1	1	4	0	1	1	4	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr5:136476318G>A	uc003lbo.3	-	2	489	c.298C>T	c.(298-300)Cag>Tag	p.Q100*	SPOCK1_uc003lbp.3_Nonsense_Mutation_p.Q100*	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	100					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGGTAGTCCTGGGTCACACAC	0.617													A	136476318	G	A	136476318	4	1	156	1	0	0	0	0	0	1	0	0	15175	1357	47	2	1053	2	SPOCK1	5	136476318	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	41642142	136476318	44438942	38	10763											
GTF2H4	2968	broad.mit.edu	37	chr6	30876944	30876944	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccacatgtctggctgTcttcaggtgagaagcccctt	6	11	10	14	0	3	1	1	1	2	1	3	2	3	1	4	2	2	1	4	2	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:30876944T>G	uc003nsa.1	+	1	338	c.131T>G	c.(130-132)gTc>gGc	p.V44G	GTF2H4_uc010jsf.2_Missense_Mutation_p.V44G|GTF2H4_uc011dmv.1_Intron	NM_001517	NP_001508	Q92759	TF2H4_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 4, 52kDa (GTF2H4), mRNA.	44					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TGTCTGGCTGTCTTCAGGTGA	0.527								Nucleotide excision repair (NER)					G	30876944	T	G	30876944	3	3	156	1	0	0	0	0	1	0	0	0	6920	1667	58	5	133	5	GTF2H4	6	30876944	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		30876944	140238123	39	10764											
AARS2	57505	broad.mit.edu	37	chr6	44268962	44268962	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaggagcacagacgtgctGggggcctgctcacacagctg	9	6	15	11	1	1	1	1	0	0	1	1	2	1	2	1	3	4	5	1	3	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:44268962G>C	uc010jza.1	-	20	2727	c.2724C>G	c.(2722-2724)ccC>ccG	p.P908P	TMEM151B_uc003oxg.3_Intron|TMEM151B_uc003oxf.2_Intron	NM_020745	NP_065796	Q5JTZ9	SYAM_HUMAN	Homo sapiens alanyl-tRNA synthetase 2, mitochondrial (putative) (AARS2), nuclear gene encoding mitochondrial protein, mRNA.	908					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	CAGACGTGCTGGGGGCCTGCT	0.647													C	44268962	G	C	44268962	2	2	156	1	0	0	0	0	0	0	0	1	20	1335	47	4		4	AARS2	6	44268962	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	13392018	44268962	126846105	40	10765											
LGSN	51557	broad.mit.edu	37	chr6	63991036	63991036	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgctattaaaacatgtGgctcttatgttattcatttc	10	18	6	7	1	2	0	1	0	1	0	4	0	2	0	0	1	1	3	0	1	5	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:63991036G>T	uc003peh.3	-	3	454	c.420C>A	c.(418-420)gcC>gcA	p.A140A	LGSN_uc003pei.3_Silent_p.A140A	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	140					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAAAACATGTGGCTCTTATGT	0.408													T	63991036	G	T	63991036	2	4	156	1	0	0	0	0	0	0	0	1	8819	1335	47	4		4	LGSN	6	63991036	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	19722074	63991036	107124031	41	10766											
SLC22A2	6582	broad.mit.edu	37	chr6	160679391	160679391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcggtgacgatggaCgagccaggcgtctcgtacac	8	8	12	13	5	1	1	0	1	1	0	3	4	1	2	2	3	3	1	2	3	2	2	rs112210325	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr6:160679391C>T	uc003qtf.3	-	0	573	c.399G>A	c.(397-399)tcG>tcA	p.S133S	SLC22A2_uc003qth.2_Silent_p.S133S	NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	133					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		TGACGATGGACGAGCCAGGCG	0.627													T	160679391	C	T	160679391	2	4	156	1	0	0	0	0	0	0	0	1	14545	523	19	1		1	SLC22A2	6	160679391	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	96688355	160679391	10435676	42	10767											
MAD1L1	8379	broad.mit.edu	37	chr7	2269722	2269722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagatgaagttgttcaaaGatctcagggtggataaaacc	15	9	12	5	0	2	3	2	1	1	2	3	6	2	4	1	2	1	2	1	2	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:2269722G>A	uc003slh.1	-	2	313	c.47C>T	c.(46-48)tCt>tTt	p.S16F	MAD1L1_uc003slf.1_Missense_Mutation_p.S16F|MAD1L1_uc003slg.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksh.1_Missense_Mutation_p.S16F|MAD1L1_uc003sli.1_Intron|MAD1L1_uc010ksi.1_Missense_Mutation_p.S16F|MAD1L1_uc010ksj.3_Missense_Mutation_p.S16F	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	16					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		GTTGTTCAAAGATCTCAGGGT	0.537													A	2269722	G	A	2269722	3	1	156	1	0	0	0	0	1	0	0	0	9218	942	33	2	2177	2	MAD1L1	7	2269722	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		2269722	156868941	43	10768											
SDK1	221935	broad.mit.edu	37	chr7	4009042	4009042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgaatgcatcggccaCgctcactgtgtggagtaagg	8	9	12	12	2	1	1	1	1	0	0	3	2	2	2	2	3	1	3	2	3	2	1	rs145189416		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:4009042C>T	uc003smx.3	+	10	1839	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	567	Ig-like C2-type 5.				cell adhesion	integral to membrane		p.T567T(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GCATCGGCCACGCTCACTGTG	0.587													T	4009042	C	T	4009042	3	4	156	1	0	0	0	0	1	0	0	0	14061	536	19	1	1742	1	SDK1	7	4009042	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1739320	4009042	155129621	44	10769											
POM121L12	285877	broad.mit.edu	37	chr7	53103741	53103741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaggggggctgtgtcGtgcctggaacccaggacgga	9	6	17	9	2	0	1	0	1	0	0	1	4	0	4	2	6	2	1	2	6	2	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:53103741G>A	uc003tpz.3	+	0	393	c.377G>A	c.(376-378)cGt>cAt	p.R126H		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	126										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGCTGTGTCGTGCCTGGAAC	0.701													A	53103741	G	A	53103741	3	1	156	1	0	0	0	0	1	0	0	0	12318	1145	40	1	379	1	POM121L12	7	53103741	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	49094699	53103741	106034922	45	10770											
DGKI	9162	broad.mit.edu	37	chr7	137363356	137363356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaggtctcccgagaCgttggtctccagccacaggt	8	8	13	12	2	2	2	0	0	2	2	4	3	2	2	3	3	2	3	3	3	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:137363356C>T	uc003vtt.3	-	2	554	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	DGKI_uc003vtu.3_5'UTR	NM_004717	NP_004708	O75912	DGKI_HUMAN	Homo sapiens diacylglycerol kinase, iota (DGKI), mRNA.	185					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTCCCGAGACGTTGGTCTCC	0.507													T	137363356	C	T	137363356	3	4	156	1	0	0	0	0	1	0	0	0	4510	536	19	1	2772	1	DGKI	7	137363356	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	84259615	137363356	21775307	46	10771											
HTR5A	3361	broad.mit.edu	37	chr7	154863096	154863096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctccaacgtcatgatcGcgctcacctgggcactctcc	6	9	9	17	4	4	1	2	1	2	0	7	1	4	1	3	1	1	2	3	1	1	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:154863096G>A	uc003wlu.1	+	0	551	c.487G>A	c.(487-489)Gcg>Acg	p.A163T	LOC100128264_uc003wlt.2_5'UTR|LOC100128264_uc011kvt.1_5'UTR	NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627													A	154863096	G	A	154863096	3	1	156	1	0	0	0	0	1	0	0	0	7508	1087	38	1	489	1	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	17499740	154863096	4275567	47	10772											
EN2	2020	broad.mit.edu	37	chr7	155251752	155251752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgctactcggaccggccttCttcaggtgagcccgcgggga	5	7	15	14	5	2	1	1	1	1	0	3	3	2	3	3	5	2	1	3	5	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:155251752C>T	uc003wmb.3	+	0	929	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001427	NP_001418	P19622	HME2_HUMAN	Homo sapiens engrailed homeobox 2 (EN2), mRNA.	227						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCGGCCTTCTTCAGGTGAG	0.726													T	155251752	C	T	155251752	3	4	156	1	0	0	0	0	1	0	0	0	5151	913	32	2	682	2	EN2	7	155251752	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	388656	155251752	3886911	48	10773											
LMBR1	64327	broad.mit.edu	37	chr7	156521400	156521400	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttctttcccatgctgaagCcttttttcgcctctctatta	6	19	4	12	1	2	1	0	1	2	0	5	1	3	1	3	0	2	1	3	0	3	7			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr7:156521400C>G	uc010lqn.3	-	11	1191	c.976G>C	c.(976-978)Gct>Cct	p.A326P	LMBR1_uc003wmv.4_Missense_Mutation_p.A133P|LMBR1_uc003wmw.4_Missense_Mutation_p.A285P|LMBR1_uc003wmx.4_Missense_Mutation_p.A133P|LMBR1_uc011kvx.2_Missense_Mutation_p.A264P	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	285						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		CATGCTGAAGCCTTTTTTCGC	0.299													G	156521400	C	G	156521400	3	3	156	1	0	0	0	0	1	0	0	0	8901	739	26	4	647	4	LMBR1	7	156521400	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1269648	156521400	2617263	49	10774											
TUSC3	7991	broad.mit.edu	37	chr8	15508246	15508246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatactggcgaactcctggCgctattcatctgctttttgt	8	15	8	10	2	2	0	1	0	1	0	3	1	3	0	1	2	3	2	1	2	4	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:15508246C>T	uc003wwt.3	+	2	693	c.349C>T	c.(349-351)Cgc>Tgc	p.R117C	TUSC3_uc003wwu.3_Missense_Mutation_p.R117C	NM_006765	NP_006756	Q13454	TUSC3_HUMAN	Homo sapiens tumor suppressor candidate 3 (TUSC3), transcript variant 1, mRNA.	117					cell redox homeostasis|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex		p.R117C(2)|p.R117H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(10)|ovary(2)	28				Colorectal(111;0.113)		GAACTCCTGGCGCTATTCATC	0.398													T	15508246	C	T	15508246	3	4	156	1	0	0	0	0	1	0	0	0	16880	768	27	1	359	1	TUSC3	8	15508246	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		15508246	130855776	50	10775											
MSR1	4481	broad.mit.edu	37	chr8	16021625	16021625	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgttcccaatctttcaGtctgagatcattagtgatgt	11	15	8	7	0	4	3	2	2	2	2	5	4	5	3	1	0	0	1	1	0	3	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:16021625G>C	uc010lsu.3	-	4	884	c.820C>G	c.(820-822)Ctg>Gtg	p.L274V	MSR1_uc003wwz.3_Missense_Mutation_p.L256V|MSR1_uc003wxa.3_Missense_Mutation_p.L256V|MSR1_uc003wxb.3_Missense_Mutation_p.L256V|MSR1_uc011kxz.2_Missense_Mutation_p.L30V	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	256	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CAATCTTTCAGTCTGAGATCA	0.308													C	16021625	G	C	16021625	3	2	156	1	0	0	0	0	1	0	0	0	9962	1020	36	4	661	4	MSR1	8	16021625	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	513379	16021625	130342397	51	10776											
EFCAB1	79645	broad.mit.edu	37	chr8	49643175	49643175	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatacatttacacagccAtcattatctttatcaaaacc	15	13	1	12	0	3	0	2	0	1	0	4	0	4	0	3	0	4	0	3	0	7	6			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:49643175A>G	uc003xqo.2	-	2	403	c.243T>C	c.(241-243)gaT>gaC	p.D81D	EFCAB1_uc003xqn.3_Intron|EFCAB1_uc011ldj.1_Silent_p.D29D|EFCAB1_uc010lxx.2_Non-coding_Transcript|EFCAB1_uc011ldk.1_Non-coding_Transcript	NM_024593	NP_078869	Q9HAE3	EFCB1_HUMAN	Homo sapiens EF-hand calcium binding domain 1 (EFCAB1), transcript variant 1, mRNA.	81	EF-hand 1.						calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TTACACAGCCATCATTATCTT	0.368													G	49643175	A	G	49643175	2	3	156	1	0	0	0	0	0	0	0	1	4972	214	8	3		3	EFCAB1	8	49643175	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	33621550	49643175	96720847	52	10777											
COLEC10	10584	broad.mit.edu	37	chr8	120118082	120118082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagaaattctactacatCgtgcaggaagagaagaacta	18	7	10	6	1	1	3	0	0	1	3	2	7	1	4	0	1	4	1	0	1	8	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:120118082C>T	uc003yoo.3	+	5	583	c.486C>T	c.(484-486)atC>atT	p.I162I		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	162	C-type lectin.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			TCTACTACATCGTGCAGGAAG	0.458													T	120118082	C	T	120118082	2	4	156	1	0	0	0	0	0	0	0	1	3741	874	31	1		1	COLEC10	8	120118082	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	70474907	120118082	26245940	53	10778											
CYP11B1	1584	broad.mit.edu	37	chr8	143956451	143956451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaaagccaaagggcacGtggtagaagttcctgccgga	12	6	13	10	2	0	1	0	0	0	1	1	2	1	2	4	3	3	3	4	3	4	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr8:143956451G>A	uc010mey.3	-	9	1540	c.1533C>T	c.(1531-1533)caC>caT	p.H511H	CYP11B1_uc010mex.3_Silent_p.H139H|CYP11B1_uc003yxh.3_Intron|CYP11B1_uc003yxi.3_Silent_p.H440H|CYP11B1_uc003yxj.3_Intron	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	440					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CAAAGGGCACGTGGTAGAAGT	0.652									Familial Hyperaldosteronism type I				A	143956451	G	A	143956451	2	1	156	1	0	0	0	0	0	0	0	1	4178	1136	40	1		1	CYP11B1	8	143956451	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	23838369	143956451	2407571	54	10779											
TAF1L	138474	broad.mit.edu	37	chr9	32633905	32633905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgcccaagagaattCgactcttcttcagagatgat	10	14	8	9	1	3	3	1	1	2	2	4	6	3	3	1	0	1	1	1	0	2	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:32633905C>A	uc003zrg.1	-	0	1763	c.1673G>T	c.(1672-1674)cGa>cTa	p.R558L	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	558					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CAAGAGAATTCGACTCTTCTT	0.458													A	32633905	C	A	32633905	3	1	156	1	0	0	0	0	1	0	0	0	15620	884	31	4	3811	4	TAF1L	9	32633905	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		32633905	108579526	55	10780											
NOL6	65083	broad.mit.edu	37	chr9	33465223	33465223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcggaggggtgaagggcTcagggtgcaggaaaagggca	11	4	19	7	1	1	1	1	1	0	0	2	3	1	3	1	7	1	3	1	7	3	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:33465223T>C	uc003zsz.3	-	19	2764	c.2663A>G	c.(2662-2664)gAg>gGg	p.E888G	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Intron|NOL6_uc010mjv.3_Missense_Mutation_p.E885G|NOL6_uc011lob.2_Missense_Mutation_p.E836G|NOL6_uc003ztb.1_Missense_Mutation_p.E888G	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	888					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGTGAAGGGCTCAGGGTGCAG	0.602													C	33465223	T	C	33465223	3	2	156	1	0	0	0	0	1	0	0	0	10601	1551	54	3	805	3	NOL6	9	33465223	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	831318	33465223	107748208	56	10781											
TRPM3	80036	broad.mit.edu	37	chr9	73167906	73167906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatgatgagctgatacCtctgaaacttccagacttgg	12	11	9	9	0	2	5	1	4	1	1	3	5	3	5	2	1	3	1	2	1	3	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:73167906C>T	uc004aid.3	-	22	3636	c.3392G>A	c.(3391-3393)aGg>aAg	p.R1131K	TRPM3_uc004ahu.3_Missense_Mutation_p.R973K|TRPM3_uc004ahv.3_Missense_Mutation_p.R933K|TRPM3_uc004ahw.3_Missense_Mutation_p.R1003K|TRPM3_uc004ahx.3_Missense_Mutation_p.R990K|TRPM3_uc004ahy.3_Missense_Mutation_p.R993K|TRPM3_uc004ahz.3_Missense_Mutation_p.R980K|TRPM3_uc004aia.3_Missense_Mutation_p.R978K|TRPM3_uc004aib.3_Missense_Mutation_p.R968K|TRPM3_uc004aic.3_Missense_Mutation_p.R1131K	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1156						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGCTGATACCTCTGAAACTT	0.423													T	73167906	C	T	73167906	3	4	156	1	0	0	0	0	1	0	0	0	16688	681	24	2	1743	2	TRPM3	9	73167906	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	39702683	73167906	68045525	57	10782											
IKBKAP	8518	broad.mit.edu	37	chr9	111658909	111658909	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactcacagcatcaggaTcagagggagcatttcctaac	13	7	9	12	0	3	1	3	0	0	1	4	3	4	3	1	2	4	3	1	2	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:111658909T>A	uc004bdm.4	-	24	3123	c.2603A>T	c.(2602-2604)gAt>gTt	p.D868V	IKBKAP_uc004bdl.3_Missense_Mutation_p.D519V|IKBKAP_uc011lwc.2_Missense_Mutation_p.D754V|IKBKAP_uc010mtq.3_Missense_Mutation_p.D519V	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	868					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AGCATCAGGATCAGAGGGAGC	0.368													A	111658909	T	A	111658909	3	1	156	1	0	0	0	0	1	0	0	0	7668	1435	50	5	1447	5	IKBKAP	9	111658909	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	38491003	111658909	29554522	58	10783											
SPTAN1	6709	broad.mit.edu	37	chr9	131371470	131371470	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatctcaaaccctccaacaGttcagccgggatgtggatga	12	8	10	11	1	2	1	2	1	1	0	4	4	3	3	3	2	3	1	3	2	3	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:131371470G>C	uc004bvl.4	+	35	4807	c.4665G>C	c.(4663-4665)caG>caC	p.Q1555H	SPTAN1_uc004bvm.4_Missense_Mutation_p.Q1555H|SPTAN1_uc004bvn.4_Missense_Mutation_p.Q1535H	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1555					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						CCCTCCAACAGTTCAGCCGGG	0.473													C	131371470	G	C	131371470	3	2	156	1	0	0	0	0	1	0	0	0	15213	1020	36	4	4803	4	SPTAN1	9	131371470	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	19712561	131371470	9841961	59	10784											
LHX3	8022	broad.mit.edu	37	chr9	139092592	139092592	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcacagccagcgcacagCgggatctctgtgggcacgag	8	6	15	12	3	2	0	1	0	1	0	3	2	2	1	1	3	3	2	1	3	0	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr9:139092592C>T	uc004cgz.3	-	1	221	c.102G>A	c.(100-102)ccG>ccA	p.P34P	LHX3_uc022bpm.1_5'UTR|LHX3_uc004cha.3_Silent_p.P29P	NM_014564	NP_055379	Q9UBR4	LHX3_HUMAN	Homo sapiens LIM homeobox 3 (LHX3), transcript variant 2, mRNA.	29	LIM zinc-binding 1.			C -> R (in Ref. 2; AAF17291).	inner ear development|organ morphogenesis|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(178;0.0511)		Epithelial(140;8.43e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.26e-07)		CAGCGCACAGCGGGATCTCTG	0.632													T	139092592	C	T	139092592	2	4	156	1	0	0	0	0	0	0	0	1	8832	755	27	1		1	LHX3	9	139092592	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	7721122	139092592	2120839	60	10785											
OR4P4	81300	broad.mit.edu	37	chr11	55406513	55406513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtataccatcagagcatactCtgcagagagacgcagcaaag	15	6	10	10	1	2	3	1	0	1	3	2	4	2	3	1	0	5	5	1	0	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55406513C>T	uc010rij.2	+	0	680	c.680C>T	c.(679-681)tCt>tTt	p.S227F		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S227F(2)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AGAGCATACTCTGCAGAGAGA	0.393													T	55406513	C	T	55406513	3	4	156	1	0	0	0	0	1	0	0	0	11156	913	32	2	682	2	OR4P4	11	55406513	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		55406513	79600003	61	10786											
OR5D16	390144	broad.mit.edu	37	chr11	55606713	55606713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttccctgacactcgcGtgctctgctttaaagttatc	7	14	8	12	2	1	1	0	1	1	0	4	1	2	1	1	0	2	5	1	0	3	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:55606713G>A	uc010rio.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													A	55606713	G	A	55606713	2	1	156	1	0	0	0	0	0	0	0	1	11232	1132	40	1		1	OR5D16	11	55606713	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	200200	55606713	79399803	62	10787											
PVRL1	5818	broad.mit.edu	37	chr11	119535607	119535607	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggcctcatccacggtgaaGtagggccgcttggcgtcctc	5	9	13	14	4	1	1	1	1	0	0	5	1	3	1	4	4	0	2	4	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr11:119535607G>C	uc001pwv.3	-	5	1576	c.1404C>G	c.(1402-1404)taC>taG	p.Y468*	PVRL1_uc001pwu.1_Intron	NM_002855	NP_002846	Q15223	PVRL1_HUMAN	Homo sapiens poliovirus receptor-related 1 (herpesvirus entry mediator C) (PVRL1), transcript variant 1, mRNA.	468					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		CCACGGTGAAGTAGGGCCGCT	0.667													C	119535607	G	C	119535607	4	2	156	1	0	0	0	0	0	1	0	0	12927	1024	36	4	539	4	PVRL1	11	119535607	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	63928894	119535607	15470909	63	10788											
GPR162	10536	broad.mit.edu	37	chr12	6939135	6939135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacgaatgtcgggagttcGgccccagagcttccgggacc	8	6	14	13	4	0	2	0	0	0	2	3	5	1	4	4	3	1	2	4	3	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:6939135G>A	uc001qra.1	+	2	642	c.608G>A	c.(607-609)cGg>cAg	p.R203Q	GPR162_uc001qrb.1_Missense_Mutation_p.R11Q|GPR162_uc001qqy.1_Missense_Mutation_p.R139Q	NM_014262	NP_055077	Q16538	GP162_HUMAN	Homo sapiens leprecan-like 2 (LEPREL2), mRNA.	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TCGGGAGTTCGGCCCCAGAGC	0.602													A	6939135	G	A	6939135	3	1	156	1	0	0	0	0	1	0	0	0	6720	1116	39	1		1	GPR162	12	6939135	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		6939135	126912760	64	10789											
C12orf39	80763	broad.mit.edu	37	chr12	21681996	21681996	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaaccatcttactggcGtcccttcagaaatcaccaga	12	8	7	14	1	3	2	2	0	1	2	4	2	4	2	3	1	3	2	3	1	3	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:21681996G>A	uc001rfa.1	+	4	421	c.270G>A	c.(268-270)gcG>gcA	p.A90A	C12orf39_uc009ziv.1_Non-coding_Transcript|C12orf39_uc009ziw.1_Non-coding_Transcript	NM_030572	NP_085049	Q9BT56	SPXN_HUMAN	Homo sapiens chromosome 12 open reading frame 39 (C12orf39), mRNA.	90						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						TCTTACTGGCGTCCCTTCAGA	0.438													A	21681996	G	A	21681996	2	1	156	1	0	0	0	0	0	0	0	1	1697	1132	40	1		1	C12orf39	12	21681996	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	14742861	21681996	112169899	65	10790											
ITPR2	3709	broad.mit.edu	37	chr12	26628304	26628304	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaccctcatcatccccAtggtcacattccaatccttg	8	12	3	18	0	4	0	3	0	1	0	8	0	7	0	6	1	0	0	6	1	1	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:26628304A>G	uc001rhg.3	-	44	6684	c.6267T>C	c.(6265-6267)caT>caC	p.H2089H	ITPR2_uc009zjg.1_Silent_p.H240H	NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	2089					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CATCATCCCCATGGTCACATT	0.368													G	26628304	A	G	26628304	2	3	156	1	0	0	0	0	0	0	0	1	7979	214	8	3		3	ITPR2	12	26628304	Silent	SNP	A	TCGA-19-2623-01A-01D-1495-08	4946308	26628304	107223591	66	10791											
SPATS2	65244	broad.mit.edu	37	chr12	49919998	49919998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaaaggggctcccccagcGcaaacccaggacctctcaga	13	3	9	16	1	1	1	1	0	1	1	3	2	2	2	4	3	2	2	4	3	3	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:49919998G>A	uc001rud.2	+	13	2587	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	SPATS2_uc001rue.2_Non-coding_Transcript|SPATS2_uc009zli.1_Missense_Mutation_p.R533H|SPATS2_uc001ruf.2_Missense_Mutation_p.R533H	NM_023071	NP_075559	Q86XZ4	SPAS2_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2 (SPATS2), mRNA.	533						cytoplasm		p.R533H(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTCCCCCAGCGCAAACCCAGG	0.522													A	49919998	G	A	49919998	3	1	156	1	0	0	0	0	1	0	0	0	15115	1087	38	1	1644	1	SPATS2	12	49919998	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	23291694	49919998	83931897	67	10792											
MGAT4C	25834	broad.mit.edu	37	chr12	86373320	86373324	+	Frame_Shift_Del	DEL	TTTAC	TTTAC	-																															gccgatcttctgttccagtaTttactttaattttttttatt																										TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:86373320_86373324delTTTAC	uc010sum.2	-	5	1411_1415	c.1252_1256delGTAAA	c.(1252-1257)gtaaatfs	p.V418fs	MGAT4C_uc001tal.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001taj.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tak.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tai.4_Frame_Shift_Del_p.V394fs|MGAT4C_uc001tah.4_Frame_Shift_Del_p.V394fs	NM_013244	NP_037376	Q9UBM8	MGT4C_HUMAN	Homo sapiens mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative) (MGAT4C), mRNA.	394					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTTCCAGTATTTACtttaattttt	0.346													-	86373324	TTTAC	-	86373320	7	5	156	1	0	1	0	1	0	0	0	0	9622	1493	52	0	256	0	MGAT4C	12	86373320	Frame_Shift_Del	DEL	TTTAC	TCGA-19-2623-01A-01D-1495-08	36453322	86373320	47478575	68	10793											
RFX4	5992	broad.mit.edu	37	chr12	107033171	107033172	+	Splice_Site	INS	-	-	T																															ctcctgctactctgcaatggINStaagtttccatttttagcaa																										TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr12:107033171_107033172insT	uc001tlt.3	+	3	358	c.218_splice	c.e3+1	p.W73_splice	LOC100287944_uc021rdg.1_Intron|RFX4_uc001tlr.3_Splice_Site_p.W64_splice|RFX4_uc010swv.2_Splice_Site|RFX4_uc001tls.3_Splice_Site_p.W73_splice	NM_001206691	NP_001193620	Q33E94	RFX4_HUMAN	Homo sapiens regulatory factor X, 4 (influences HLA class II expression) (RFX4), transcript variant 4, mRNA.	64					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTCTGCAATGGTAAGTTTCCAT	0.371													T	107033172	-	T	107033171	8	5	156	1	0	1	1	0	0	0	1	0	13353	1275	44	0	276	0	RFX4	12	107033171	Splice_Site	INS	-	TCGA-19-2623-01A-01D-1495-08	20659851	107033171	26818724	69	10794											
FLT3	2322	broad.mit.edu	37	chr13	28592630	28592630	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgacaacatagttggaatCactcatgatatctcgagcca	13	10	7	11	1	3	2	2	2	1	0	4	4	3	3	2	1	2	1	2	1	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:28592630C>G	uc001urw.3	-	19	2597	c.2515G>C	c.(2515-2517)Gat>Cat	p.D839H	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Intron	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	839	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.D839?(2)|p.D835_S838del(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TAGTTGGAATCACTCATGATA	0.453			"Mis, O"		"AML, ALL"								G	28592630	C	G	28592630	3	3	156	1	0	0	0	0	1	0	0	0	5991	826	29	4	486	4	FLT3	13	28592630	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		28592630	86577248	70	10795											
RB1	5925	broad.mit.edu	37	chr13	48955560	48955563	+	Frame_Shift_Del	DEL	AATC	AATC	-																															atgtgaacatcgaatcatggAatcccttgcatggctctcag																										TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr13:48955560_48955563delAATC	uc001vcb.3	+	16	1842_1845	c.1676_1679delAATC	c.(1675-1680)gaatccfs	p.E559fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	559	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGAATCATGGAATCCCTTGCATGG	0.328		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48955563	AATC	-	48955560	7	5	156	1	0	1	0	1	0	0	0	0	13186	246	9	0	1742	0	RB1	13	48955560	Frame_Shift_Del	DEL	AATC	TCGA-19-2623-01A-01D-1495-08	20362930	48955560	66214318	71	10796											
PSMA3	5684	broad.mit.edu	37	chr14	58737688	58737688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaattgttccaaaagataTaagagaagaagcagagaaat	21	8	9	3	0	0	5	0	1	0	4	1	7	1	5	1	0	1	2	1	0	8	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:58737688T>C	uc001xdj.2	+	9	811	c.695T>C	c.(694-696)aTa>aCa	p.I232T	C14orf37_uc010tro.2_Intron|PSMA3_uc001xdk.2_Missense_Mutation_p.I225T|PSMA3_uc021rtt.1_Missense_Mutation_p.I157T|C14orf37_uc001xdl.3_Intron|C14orf37_uc021rtu.1_Intron	NM_002788	NP_002779	P25788	PSA3_HUMAN	Homo sapiens proteasome (prosome, macropain) subunit, alpha type, 3 (PSMA3), transcript variant 1, mRNA.	232					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						CCAAAAGATATAAGAGAAGAA	0.368													C	58737688	T	C	58737688	3	2	156	1	0	0	0	0	1	0	0	0	12753	1406	49	3	733	3	PSMA3	14	58737688	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		58737688	48611852	72	10797											
CDCA4	55038	broad.mit.edu	37	chr14	105477700	105477700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagtactgtgtccaggtcGtagtaggggctgtccacgtc	6	11	14	10	2	1	0	1	0	0	0	5	0	3	0	2	3	1	4	2	3	3	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr14:105477700G>A	uc021sep.1	-	0	567	c.567C>T	c.(565-567)taC>taT	p.Y189Y	CDCA4_uc001yqa.2_Silent_p.Y189Y|CDCA4_uc001yqb.2_Silent_p.Y189Y	NM_145701	NP_663747	Q9BXL8	CDCA4_HUMAN	Homo sapiens cell division cycle associated 4 (CDCA4), transcript variant 2, mRNA.	189						nucleus				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		all_cancers(154;0.0798)|Melanoma(154;0.155)|all_epithelial(191;0.183)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.142)		TGTCCAGGTCGTAGTAGGGGC	0.587													A	105477700	G	A	105477700	2	1	156	1	0	0	0	0	0	0	0	1	3118	1140	40	1		1	CDCA4	14	105477700	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	46740012	105477700	1871840	73	10798											
MKRN3	7681	broad.mit.edu	37	chr15	23812072	23812072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttctgggtggaggaggaGgaagagaagcagaaacttat	14	7	17	3	0	1	2	0	0	1	2	1	8	1	6	0	5	2	2	0	5	4	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:23812072G>A	uc001ywh.4	+	0	1619	c.1143G>A	c.(1141-1143)gaG>gaA	p.E381E	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Silent_p.E381E	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	381						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGGAGGAGGAGGAAGAGAAGC	0.507													A	23812072	G	A	23812072	2	1	156	1	0	0	0	0	0	0	0	1	9683	991	35	2		2	MKRN3	15	23812072	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08		23812072	78719320	74	10799											
FMN1	342184	broad.mit.edu	37	chr15	33358855	33358855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccctttctggggggccGgatgaatagggctttaaaag	8	10	15	8	1	1	1	0	1	1	0	2	2	2	2	3	6	0	1	3	6	4	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:33358855G>A	uc001zhf.4	-	0	1231	c.1231C>T	c.(1231-1233)Cgg>Tgg	p.R411W	FMN1_uc001zhg.2_Missense_Mutation_p.R411W	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	172	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CTGGGGGGCCGGATGAATAGG	0.567													A	33358855	G	A	33358855	3	1	156	1	0	0	0	0	1	0	0	0	5998	1115	39	1	2427	1	FMN1	15	33358855	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	9546783	33358855	69172537	75	10800											
GPR176	11245	broad.mit.edu	37	chr15	40093624	40093624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggggtggggcagagggCgcaaactgtggcccctgctc	6	6	17	12	1	1	1	1	0	0	1	2	1	1	1	2	6	2	3	2	6	1	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:40093624C>T	uc001zkj.1	-	2	2123	c.1257G>A	c.(1255-1257)gcG>gcA	p.A419A	GPR176_uc010uck.1_Silent_p.A359A	NM_007223	NP_009154	Q14439	GP176_HUMAN	Homo sapiens G protein-coupled receptor 176 (GPR176), mRNA.	419					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		GGGCAGAGGGCGCAAACTGTG	0.572													T	40093624	C	T	40093624	2	4	156	1	0	0	0	0	0	0	0	1	6727	755	27	1		1	GPR176	15	40093624	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	6734769	40093624	62437768	76	10801											
PLA2G4D	283748	broad.mit.edu	37	chr15	42364007	42364007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggggctccgggatcctcCtcatcagccgtcccatgaag	6	8	11	16	3	2	1	2	1	0	0	7	2	7	2	6	3	1	1	6	3	1	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:42364007C>A	uc001zox.3	-	14	1633	c.1538G>T	c.(1537-1539)aGg>aTg	p.R513M		NM_178034	NP_828848	Q86XP0	PA24D_HUMAN	Homo sapiens phospholipase A2, group IVD (cytosolic) (PLA2G4D), mRNA.	513	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity	p.R513G(1)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CGGGATCCTCCTCATCAGCCG	0.617													A	42364007	C	A	42364007	3	1	156	1	0	0	0	0	1	0	0	0	12081	681	24	4	942	4	PLA2G4D	15	42364007	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2270383	42364007	60167385	77	10802											
C15orf48	84419	broad.mit.edu	37	chr15	45724277	45724277	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttaattttagccttgatCgaaaaaaaaatccagaacct	16	13	4	8	1	1	2	0	1	1	1	3	3	2	2	3	0	2	0	3	0	7	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:45724277C>T	uc001zvg.3	+	3	248	c.130C>T	c.(130-132)Cga>Tga	p.R44*	C15orf48_uc001zvh.3_Nonsense_Mutation_p.R44*|C15orf48_uc021skp.1_5'Flank	NM_197955	NP_922946	Q9C002	NMES1_HUMAN	Homo sapiens chromosome 15 open reading frame 48 (C15orf48), transcript variant 1, mRNA.	44						nucleus				large_intestine(1)|lung(2)|ovary(1)	4		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.67e-16)|GBM - Glioblastoma multiforme(94;1.71e-06)		TAGCCTTGATCGAAAAAAAAA	0.313													T	45724277	C	T	45724277	4	4	156	1	0	0	0	0	0	1	0	0	1812	876	31	1	140	1	C15orf48	15	45724277	Nonsense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	3360270	45724277	56807115	78	10803											
UACA	55075	broad.mit.edu	37	chr15	70970467	70970467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaactgtaaaccattgaCtttatccaaaagtattcttt	13	16	4	8	0	1	1	0	1	1	0	2	1	2	1	2	0	2	3	2	0	7	8	rs145715387		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr15:70970467C>T	uc002asr.3	-	10	1074	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	UACA_uc010uke.2_Missense_Mutation_p.V215I|UACA_uc002asq.3_Missense_Mutation_p.V311I|UACA_uc010bin.1_Missense_Mutation_p.V310I	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	324						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						AAACCATTGACTTTATCCAAA	0.284													T	70970467	C	T	70970467	3	4	156	1	0	0	0	0	1	0	0	0	16926	565	20	2	3316	2	UACA	15	70970467	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	25246190	70970467	31560925	79	10804											
MYH11	4629	broad.mit.edu	37	chr16	15857677	15857677	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatctggcatggacgcctGgtctgtgtttctttccttct	3	18	10	10	1	4	0	0	0	4	0	5	1	5	1	2	3	0	3	2	3	1	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:15857677G>A	uc002ddx.3	-	10	1233	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	MYH11_uc002ddv.3_Nonsense_Mutation_p.Q376*|MYH11_uc002ddw.3_Nonsense_Mutation_p.Q369*|MYH11_uc002ddy.3_Nonsense_Mutation_p.Q369*|MYH11_uc010bvg.3_Nonsense_Mutation_p.Q201*|MYH11_uc002dea.1_Nonsense_Mutation_p.Q75*	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	369	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ATGGACGCCTGGTCTGTGTTT	0.507			T	CBFB	AML								A	15857677	G	A	15857677	4	1	156	1	0	0	0	0	0	1	0	0	10107	1357	47	2	4976	2	MYH11	16	15857677	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		15857677	74497076	80	10805											
DNAH3	55567	broad.mit.edu	37	chr16	21145656	21145656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgttccacttcttggCgctcctgtagacactgtgcc	4	13	8	16	2	1	1	0	0	1	1	5	1	4	1	4	1	1	3	4	1	1	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:21145656C>T	uc010vbe.2	-	6	1006	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	DNAH3_uc002die.2_Missense_Mutation_p.A307T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	336	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S335S(1)		NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CACTTCTTGGCGCTCCTGTAG	0.527													T	21145656	C	T	21145656	3	4	156	1	0	0	0	0	1	0	0	0	4642	768	27	1	11567	1	DNAH3	16	21145656	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	5287979	21145656	69209097	81	10806											
ITGAD	3681	broad.mit.edu	37	chr16	31426282	31426282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcgtcctgtgctggcCgtgggctcacaagacctctt	6	10	11	14	2	2	1	1	0	1	1	3	1	3	1	4	2	3	2	4	2	2	1	rs144306080	byFrequency	TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:31426282C>T	uc010cap.1	+	17	2305	c.2256C>T	c.(2254-2256)gcC>gcT	p.A752A	ITGAD_uc002ebv.1_Silent_p.A751A	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	751					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CTGTGCTGGCCGTGGGCTCAC	0.537													T	31426282	C	T	31426282	2	4	156	1	0	0	0	0	0	0	0	1	7942	639	23	1		1	ITGAD	16	31426282	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	10280626	31426282	58928471	82	10807											
CYLD	1540	broad.mit.edu	37	chr16	50815179	50815179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgagtgtgcaggctgtaCggatggaaccttcagaggca	11	8	15	7	1	1	3	1	1	0	2	1	5	1	5	1	4	3	4	1	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr16:50815179C>T	uc021tib.1	+	7	1664	c.1541C>T	c.(1540-1542)aCg>aTg	p.T514M	CYLD_uc002ego.3_Missense_Mutation_p.T511M|CYLD_uc010cbs.1_Missense_Mutation_p.T511M|CYLD_uc002egp.1_Missense_Mutation_p.T511M|CYLD_uc002egq.1_Missense_Mutation_p.T511M|CYLD_uc002egr.1_Missense_Mutation_p.T511M|CYLD_uc002egs.1_Missense_Mutation_p.T511M	NM_015247	NP_056062	Q9NQC7	CYLD_HUMAN	Homo sapiens cylindromatosis (turban tumor syndrome) (CYLD), transcript variant 1, mRNA.	514	CAP-Gly 3.|Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding	p.T514fs*29(2)|p.T514T(1)		central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GCAGGCTGTACGGATGGAACC	0.453			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				T	50815179	C	T	50815179	3	4	156	1	0	0	0	0	1	0	0	0	4176	536	19	1	1571	1	CYLD	16	50815179	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	19388897	50815179	39539574	83	10808											
NLRP1	22861	broad.mit.edu	37	chr17	5463322	5463322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccaccgctgcccatggggGcctgcctttctctgatttct	4	13	9	15	1	2	1	0	1	2	0	3	1	2	1	5	2	3	1	5	2	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:5463322G>A	uc002gci.3	-	3	1249	c.694C>T	c.(694-696)Ccc>Tcc	p.P232S	NLRP1_uc002gcg.1_Missense_Mutation_p.P232S|NLRP1_uc002gch.4_Missense_Mutation_p.P232S|NLRP1_uc002gck.3_Missense_Mutation_p.P232S|NLRP1_uc002gcj.3_Missense_Mutation_p.P232S|NLRP1_uc002gcl.3_Missense_Mutation_p.P232S|NLRP1_uc010clh.3_Missense_Mutation_p.P232S	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	232					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCCCATGGGGGCCTGCCTTTC	0.507													A	5463322	G	A	5463322	3	1	156	1	0	0	0	0	1	0	0	0	10547	1203	42	2	3858	2	NLRP1	17	5463322	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		5463322	75731888	84	10809											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:7577548C>T	uc002gim.2	-	6	927	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_uc002gig.1_Missense_Mutation_p.G245S|TP53_uc002gih.3_Missense_Mutation_p.G245S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G113S|TP53_uc010cnf.1_Missense_Mutation_p.G113S|TP53_uc002gii.1_Missense_Mutation_p.G113S|TP53_uc010cni.1_Missense_Mutation_p.G245S|TP53_uc010cnh.1_Missense_Mutation_p.G245S|TP53_uc002gij.2_Missense_Mutation_p.G245S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G152S|TP53_uc002gio.2_Missense_Mutation_p.G113S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245S(600)|p.G245C(110)|p.G245D(99)|p.G245V(58)|p.G244D(42)|p.G244C(37)|p.G244S(37)|p.G245R(20)|p.G244V(14)|p.G244G(13)|p.G244A(9)|p.G245A(8)|p.G152S(8)|p.0?(8)|p.G245fs*2(5)|p.G244fs*3(5)|p.?(5)|p.G245N(4)|p.G244_M246>V(4)|p.G152C(4)|p.G244R(4)|p.G245G(3)|p.G245H(2)|p.G245L(2)|p.G244fs*17(2)|p.G245F(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.G245fs*22(2)|p.S241_G245delSCMGG(2)|p.G245del(2)|p.G245fs*14(2)|p.G245fs*17(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245E(1)|p.G244fs*4(1)|p.G244fs*19(1)|p.C242fs*98(1)|p.G244del(1)|p.M243fs*18(1)|p.M243_G244>IC(1)|p.G244E(1)|p.G151_M153>V(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	156	1	0	0	0	0	1	0	0	0	16482	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2114226	7577548	73617662	85	10810											
MYH8	4626	broad.mit.edu	37	chr17	10297588	10297588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtggaggagctggacaCgctcactggcatccaggagc	8	6	17	10	1	1	0	1	0	0	0	2	4	2	4	1	6	2	3	1	6	0	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:10297588C>T	uc002gmm.2	-	34	5239	c.5144G>A	c.(5143-5145)cGt>cAt	p.R1715H	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1715					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGCTGGACACGCTCACTGGC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10297588	C	T	10297588	3	4	156	1	0	0	0	0	1	0	0	0	10117	536	19	1	693	1	MYH8	17	10297588	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	2720040	10297588	70897622	86	10811											
CCL13	6357	broad.mit.edu	37	chr17	32685057	32685057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccacagcttcagaaccaaActgggcaaggagatctgtgc	12	7	10	12	0	2	2	1	0	1	2	3	3	3	2	2	2	4	2	2	2	3	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:32685057A>C	uc002hic.3	+	2	279	c.204A>C	c.(202-204)aaA>aaC	p.K68N		NM_005408	NP_005399	Q99616	CCL13_HUMAN	Homo sapiens chemokine (C-C motif) ligand 13 (CCL13), mRNA.	68					cell-cell signaling|cellular calcium ion homeostasis|chemotaxis|immune response|inflammatory response	extracellular space	chemokine activity|signal transducer activity			large_intestine(1)|prostate(1)	2		Ovarian(249;0.0443)|Breast(31;0.151)				TCAGAACCAAACTGGGCAAGG	0.512													C	32685057	A	C	32685057	3	2	156	1	0	0	0	0	1	0	0	0	2912	40	2	5	214	5	CCL13	17	32685057	Missense_Mutation	SNP	A	TCGA-19-2623-01A-01D-1495-08	22387469	32685057	48510153	87	10812											
KRT25	147183	broad.mit.edu	37	chr17	38911514	38911514	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggatgcactggaaagtcGaagagacatggtatcagggc	12	7	14	8	1	1	1	1	0	0	1	2	5	1	3	1	4	1	2	1	4	3	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:38911514G>A	uc002hve.3	-	0	71	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	4	Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGAAAGTCGAAGAGACATG	0.488													A	38911514	G	A	38911514	4	1	156	1	0	0	0	0	0	1	0	0	8520	1066	37	1	1374	1	KRT25	17	38911514	Nonsense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	6226457	38911514	42283696	88	10813											
DHX8	1659	broad.mit.edu	37	chr17	41601142	41601142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacagaagaagcaacagcGtcttgaacccttgtacaacc	16	6	7	12	1	1	3	0	1	1	2	1	3	1	3	2	0	7	2	2	0	7	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:41601142G>A	uc002idu.1	+	22	3662	c.3590G>A	c.(3589-3591)cGt>cAt	p.R1197H	DHX8_uc010wig.2_Intron	NM_004941	NP_004932	Q14562	DHX8_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 8 (DHX8), mRNA.	1197						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AAGCAACAGCGTCTTGAACCC	0.517													A	41601142	G	A	41601142	3	1	156	1	0	0	0	0	1	0	0	0	4554	1145	40	1	3680	1	DHX8	17	41601142	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	2689628	41601142	39594068	89	10814											
TBX21	30009	broad.mit.edu	37	chr17	45822386	45822386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaccatgtcctactaccGaggccaggaggtcctggcac	8	6	11	16	1	0	0	0	0	0	0	2	2	2	1	6	4	2	1	6	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr17:45822386G>A	uc002ilv.1	+	5	1473	c.1262G>A	c.(1261-1263)cGa>cAa	p.R421Q		NM_013351	NP_037483	Q9UL17	TBX21_HUMAN	Homo sapiens T-box 21 (TBX21), mRNA.	421					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TCCTACTACCGAGGCCAGGAG	0.662													A	45822386	G	A	45822386	3	1	156	1	0	0	0	0	1	0	0	0	15757	1058	37	1	1284	1	TBX21	17	45822386	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	4221244	45822386	35372824	90	10815											
MC2R	4158	broad.mit.edu	37	chr18	13885081	13885081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtaagcaccaccacagtgCggcgcatggtcacgatgctg	9	6	12	14	4	1	0	1	0	0	0	1	1	1	0	3	2	3	4	3	2	1	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:13885081C>T	uc002ksp.1	-	1	614	c.437G>A	c.(436-438)cGc>cAc	p.R146H	MC2R_uc021uhs.1_Missense_Mutation_p.R146H	NM_000529	NP_000520	Q01718	ACTHR_HUMAN	Homo sapiens melanocortin 2 receptor (adrenocorticotropic hormone) (MC2R), mRNA.	146			R -> H (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	p.R146H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CACCACAGTGCGGCGCATGGT	0.577													T	13885081	C	T	13885081	3	4	156	1	0	0	0	0	1	0	0	0	9439	768	27	1	460	1	MC2R	18	13885081	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		13885081	64192167	91	10816											
ATP5A1	498	broad.mit.edu	37	chr18	43668121	43668121	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcaacagtggatctcttTtgaccaatagcaacataaat	14	11	8	8	0	1	1	0	1	1	0	2	2	1	2	1	2	3	2	1	2	6	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr18:43668121T>C	uc002lbr.1	-	5	843	c.753A>G	c.(751-753)caA>caG	p.Q251Q	ATP5A1_uc010dnl.1_Silent_p.Q201Q|ATP5A1_uc002lbs.1_Silent_p.Q201Q|ATP5A1_uc002lbt.1_Silent_p.Q251Q	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	251					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						TGGATCTCTTTTGACCAATAG	0.368													C	43668121	T	C	43668121	2	2	156	1	0	0	0	0	0	0	0	1	1152	1838	64	3		3	ATP5A1	18	43668121	Silent	SNP	T	TCGA-19-2623-01A-01D-1495-08	29783040	43668121	34409127	92	10817											
INSR	3643	broad.mit.edu	37	chr19	7117197	7117197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccatcccggccccccGcctcctccctctgacagtgc	4	7	6	24	2	1	1	0	1	1	0	5	1	5	1	9	1	1	0	9	1	0	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:7117197G>A	uc002mgd.1	-	21	4128	c.4019C>T	c.(4018-4020)gCg>gTg	p.A1340V	INSR_uc002mge.1_Missense_Mutation_p.A1328V	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1340					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.A1340V(5)|p.A1340A(1)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGCCCCCCGCCTCCTCCCT	0.592													A	7117197	G	A	7117197	3	1	156	1	0	0	0	0	1	0	0	0	7831	1087	38	1	133	1	INSR	19	7117197	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		7117197	52011786	93	10818											
FBN3	84467	broad.mit.edu	37	chr19	8160957	8160957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggctgccggtcacactcGtcaatgtctgcagaagcaaa	12	7	10	12	2	3	1	2	0	1	1	4	1	3	1	1	2	3	3	1	2	4	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:8160957G>A	uc002mjf.3	-	43	5564	c.5547C>T	c.(5545-5547)gaC>gaT	p.D1849D		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1849	EGF-like 29; 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						GGTCACACTCGTCAATGTCTG	0.582													A	8160957	G	A	8160957	2	1	156	1	0	0	0	0	0	0	0	1	5753	1136	40	1		1	FBN3	19	8160957	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	1043760	8160957	50968026	94	10819											
OR7C1	26664	broad.mit.edu	37	chr19	14910414	14910414	+	Frame_Shift_Del	DEL	A	A	-																															caggacttcaagtagatcacAaaaaaagtgtggaatttcca																										TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:14910414delA	uc010xnz.2	-	0	535	c.535delT	c.(535-537)tgtfs	p.C179fs		NM_198944	NP_945182	O76099	OR7C1_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily C, member 1 (OR7C1), mRNA.	179					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity	p.C179fs*7(2)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						AGTAGATCACAAAAAAAGTGT	0.478													-	14910414	A	-	14910414	7	5	156	1	0	1	0	1	0	0	0	0	11293	130	5	0	429	0	OR7C1	19	14910414	Frame_Shift_Del	DEL	A	TCGA-19-2623-01A-01D-1495-08	6749457	14910414	44218569	95	10820											
UPF1	5976	broad.mit.edu	37	chr19	18976409	18976409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagactggtcgtgggggacGccagaagaaccgctttgggc	9	6	16	10	3	0	3	0	0	0	3	1	4	0	4	2	4	1	1	2	4	3	1	rs139317612		TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:18976409G>A	uc002nkg.3	+	21	3367	c.3092G>A	c.(3091-3093)cGc>cAc	p.R1031H	UPF1_uc002nkf.3_Missense_Mutation_p.R1020H|UPF1_uc002nkh.3_Missense_Mutation_p.R275H	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	1031					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGTGGGGGACGCCAGAAGAAC	0.642													A	18976409	G	A	18976409	3	1	156	1	0	0	0	0	1	0	0	0	17105	1087	38	1	3145	1	UPF1	19	18976409	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	4065995	18976409	40152574	96	10821											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908257	39908257	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgagatggtggaggaagcTattgtgtccatgacagcggt	9	9	16	7	3	0	2	0	1	0	1	1	5	1	4	1	4	2	1	1	4	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:39908257T>C	uc010xuz.2	+	7	1132	c.807T>C	c.(805-807)gcT>gcC	p.A269A	PLEKHG2_uc010xuy.2_Silent_p.A210A|PLEKHG2_uc002olj.3_Silent_p.A269A|PLEKHG2_uc010xva.2_Silent_p.A76A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	269	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TGGAGGAAGCTATTGTGTCCA	0.647													C	39908257	T	C	39908257	2	2	156	1	0	0	0	0	0	0	0	1	12146	1509	53	3		3	PLEKHG2	19	39908257	Silent	SNP	T	TCGA-19-2623-01A-01D-1495-08	20931848	39908257	19220726	97	10822											
XRCC1	7515	broad.mit.edu	37	chr19	44057610	44057610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggcctcagagagttggCgctctcatcctcctccttca	5	10	8	18	2	3	1	3	0	1	1	7	2	6	1	6	2	0	2	6	2	0	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:44057610C>T	uc002owt.2	-	5	664	c.544G>A	c.(544-546)Gcc>Acc	p.A182T	XRCC1_uc010xwp.1_Missense_Mutation_p.A151T	NM_006297	NP_006288	P18887	XRCC1_HUMAN	Homo sapiens X-ray repair complementing defective repair in Chinese hamster cells 1 (XRCC1), mRNA.	182					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				AGAGAGTTGGCGCTCTCATCC	0.577								Other BER factors					T	44057610	C	T	44057610	3	4	156	1	0	0	0	0	1	0	0	0	17554	768	27	1	1405	1	XRCC1	19	44057610	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	4149353	44057610	15071373	98	10823											
NLRP2	55655	broad.mit.edu	37	chr19	55501996	55501996	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacaggggtgaagtttctGtgtgagggcttgaggtaccc	9	11	15	6	0	1	3	0	3	1	0	1	3	1	3	1	4	2	3	1	4	4	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:55501996G>C	uc021vbq.1	+	9	2775	c.2664G>C	c.(2662-2664)ctG>ctC	p.L888L	NLRP2_uc010yfp.2_Silent_p.L865L|NLRP2_uc002qij.3_Silent_p.L888L|NLRP2_uc010esp.3_Silent_p.L866L|NLRP2_uc010esn.3_Silent_p.L864L|NLRP2_uc010eso.3_Silent_p.L885L	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	888					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGAAGTTTCTGTGTGAGGGCT	0.567													C	55501996	G	C	55501996	2	2	156	1	0	0	0	0	0	0	0	1	10553	1364	48	4		4	NLRP2	19	55501996	Silent	SNP	G	TCGA-19-2623-01A-01D-1495-08	11444386	55501996	3626987	99	10824											
NLRP5	126206	broad.mit.edu	37	chr19	56539073	56539073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggtgggggagagcgtcGcccccttcaaccaaacgctc	8	6	13	14	4	1	1	1	0	0	1	3	2	1	1	3	3	3	1	3	3	2	1			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr19:56539073G>A	uc002qmj.3	+	6	1474	c.1474G>A	c.(1474-1476)Gcc>Acc	p.A492T	NLRP5_uc002qmi.3_Missense_Mutation_p.A473T	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	492	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGAGCGTCGCCCCCTTCAA	0.637													A	56539073	G	A	56539073	3	1	156	1	0	0	0	0	1	0	0	0	10556	1087	38	1	1500	1	NLRP5	19	56539073	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	1037077	56539073	2589910	100	10825											
VPS16	64601	broad.mit.edu	37	chr20	2843940	2843940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgggtctaccaggctcGtgttgcggagactttacccc	6	9	11	15	3	1	1	0	0	1	1	2	2	1	1	5	3	3	2	5	3	2	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:2843940G>A	uc002whe.3	+	14	1420	c.1372G>A	c.(1372-1374)Gtg>Atg	p.V458M	PTPRA_uc002whj.3_5'Flank|VPS16_uc002whf.3_Missense_Mutation_p.V314M|VPS16_uc002whg.3_Missense_Mutation_p.V144M	NM_022575	NP_072097	Q9H269	VPS16_HUMAN	Homo sapiens vacuolar protein sorting 16 homolog (S. cerevisiae) (VPS16), transcript variant 1, mRNA.	458					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TACCAGGCTCGTGTTGCGGAG	0.592													A	2843940	G	A	2843940	3	1	156	1	0	0	0	0	1	0	0	0	17295	1145	40	1	1430	1	VPS16	20	2843940	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08		2843940	60181580	101	10826											
SMOX	54498	broad.mit.edu	37	chr20	4162543	4162543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttcacccgagaggaggtgCgtaaccgcatcaggaatgac	11	7	13	10	3	2	2	2	1	0	1	2	5	2	4	2	3	2	3	2	3	2	2			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:4162543C>T	uc002wkp.2	+	3	730	c.529C>T	c.(529-531)Cgt>Tgt	p.R177C	SMOX_uc010zqo.1_Missense_Mutation_p.R154C|SMOX_uc002wkk.1_Missense_Mutation_p.R177C|SMOX_uc002wkl.1_Missense_Mutation_p.R177C|SMOX_uc002wkm.1_Missense_Mutation_p.R177C|SMOX_uc002wkn.1_Intron|SMOX_uc002wko.1_Missense_Mutation_p.R177C	NM_175839	NP_787033	Q9NWM0	SMOX_HUMAN	Homo sapiens spermine oxidase (SMOX), transcript variant 1, mRNA.	177					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	AGAGGAGGTGCGTAACCGCAT	0.537													T	4162543	C	T	4162543	3	4	156	1	0	0	0	0	1	0	0	0	14897	768	27	1	539	1	SMOX	20	4162543	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	1318603	4162543	58862977	102	10827											
ZNF831	128611	broad.mit.edu	37	chr20	57767832	57767832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccgcagaggacacagaCgcaaagagaactgctgcgcg	12	3	14	12	4	0	3	0	0	0	3	0	5	0	4	1	1	4	3	1	1	2	0			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr20:57767832C>T	uc002yan.3	+	0	1758	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	586						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACACAGACGCAAAGAGAA	0.672													T	57767832	C	T	57767832	2	4	156	1	0	0	0	0	0	0	0	1	18284	535	19	1		1	ZNF831	20	57767832	Silent	SNP	C	TCGA-19-2623-01A-01D-1495-08	53605289	57767832	5257688	103	10828											
SAMSN1	64092	broad.mit.edu	37	chr21	15889263	15889263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacccacttttttcttcaTtgtccatgaaatagctctca	9	18	3	11	0	3	1	2	1	2	0	5	1	4	1	2	0	2	1	2	0	3	8			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chr21:15889263T>C	uc002yju.1	-	2	311	c.229A>G	c.(229-231)Atg>Gtg	p.M77V	SAMSN1_uc010gky.1_Intron|SAMSN1_uc002yjv.1_Missense_Mutation_p.M145V	NM_022136	NP_071419	Q9NSI8	SAMN1_HUMAN	Homo sapiens SAM domain, SH3 domain and nuclear localization signals 1 (SAMSN1), transcript variant 1, mRNA.	77					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		TTTTTCTTCATTGTCCATGAA	0.338													C	15889263	T	C	15889263	3	2	156	1	0	0	0	0	1	0	0	0	13921	1493	52	3	916	3	SAMSN1	21	15889263	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08		15889263	32240632	104	10829											
PCYT1B	9468	broad.mit.edu	37	chrX	24580418	24580418	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccagcagcctctacttttCatcctcatccccctcgctca	6	12	3	20	1	4	0	3	0	1	0	8	0	7	0	5	0	3	2	5	0	1	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:24580418C>G	uc004dbi.3	-	7	1335	c.1102G>C	c.(1102-1104)Gaa>Caa	p.E368Q	PCYT1B_uc004dbk.4_Intron|PCYT1B_uc004dbj.3_Missense_Mutation_p.E350Q	NM_004845	NP_004836	Q9Y5K3	PCY1B_HUMAN	Homo sapiens phosphate cytidylyltransferase 1, choline, beta (PCYT1B), transcript variant 1, mRNA.	368						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity	p.E368G(1)		breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	CTCTACTTTTCATCCTCATCC	0.577													G	24580418	C	G	24580418	3	3	156	1	0	0	0	0	1	0	0	0	11687	835	29	4	48	4	PCYT1B	23	24580418	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08		24580418	130690142	105	10830											
DMD	1756	broad.mit.edu	37	chrX	32563337	32563337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggggaggtggtggtggaaGttcctcttgagcatgcttta	6	14	16	5	0	1	1	0	1	1	0	2	3	2	3	1	6	2	3	1	6	2	5			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:32563337G>T	uc004dda.1	-	16	2351	c.2107C>A	c.(2107-2109)Ctt>Att	p.L703I	DMD_uc004dcz.2_Missense_Mutation_p.L580I|DMD_uc004dcy.1_Missense_Mutation_p.L699I|DMD_uc004ddb.1_Missense_Mutation_p.L695I|DMD_uc010ngo.1_Intron|DMD_uc004ddf.3_Missense_Mutation_p.L695I	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	703					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GGTGGTGGAAGTTCCTCTTGA	0.448													T	32563337	G	T	32563337	3	4	156	1	0	0	0	0	1	0	0	0	4619	1029	36	4	9445	4	DMD	23	32563337	Missense_Mutation	SNP	G	TCGA-19-2623-01A-01D-1495-08	7982919	32563337	122707223	106	10831											
CXorf22	170063	broad.mit.edu	37	chrX	35989828	35989828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcaaattcaattagagCgaatcgattgttaaccacca	16	9	7	9	2	1	1	1	0	0	1	2	3	1	1	2	0	4	3	2	0	5	4			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:35989828C>T	uc004ddj.3	+	11	2162	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	699										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TCAATTAGAGCGAATCGATTG	0.448													T	35989828	C	T	35989828	3	4	156	1	0	0	0	0	1	0	0	0	4135	768	27	1	2142	1	CXorf22	23	35989828	Missense_Mutation	SNP	C	TCGA-19-2623-01A-01D-1495-08	3426491	35989828	119280732	107	10832											
THOC2	57187	broad.mit.edu	37	chrX	122799597	122799597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattgaacacgtctctccTcaaatcttcaaagctctcag	12	12	4	13	1	5	1	3	1	3	0	8	1	6	1	1	0	2	1	1	0	4	3			TCGA-19-2623-01A-01D-1495-08	TCGA-19-2623-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a14ae5c3-fee0-4ed7-9080-51056ce62ef2	7fc42b4d-ca22-4f63-a0f3-16c2ae0aa213	g.chrX:122799597T>C	uc004etu.3	-	11	1314	c.1282A>G	c.(1282-1284)Agg>Ggg	p.R428G	THOC2_uc011muh.1_Missense_Mutation_p.R349G|THOC2_uc011mui.1_Missense_Mutation_p.R313G	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	428					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						ACGTCTCTCCTCAAATCTTCA	0.403													C	122799597	T	C	122799597	3	2	156	1	0	0	0	0	1	0	0	0	15965	1550	54	3	3607	3	THOC2	23	122799597	Missense_Mutation	SNP	T	TCGA-19-2623-01A-01D-1495-08	86809769	122799597	32470963	108	10833											
CDK11B	728642	broad.mit.edu	37	chr1	1636296	1636296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacagcacggggccctgtCggaaaagccttccacccggg	9	4	14	14	3	0	0	0	0	0	0	2	2	1	2	4	5	2	1	4	5	2	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:1636296C>T	uc010nyt.1	-	12	1613	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	CDK11B_uc001ags.1_Intron|CDK11B_uc001agt.1_Intron|CDK11B_uc001aha.1_Intron|CDK11B_uc001agw.1_Intron|CDK11B_uc001agv.1_Intron|CDK11B_uc001agy.1_Intron|CDK11B_uc001agx.1_Intron|CDK11B_uc001agz.1_Intron|SLC35E2B_uc001ahh.4_Intron|CDK11B_uc001ahj.4_5'UTR|CDK11B_uc009vkp.3_Intron|CDK11B_uc009vkq.3_Intron|CDK11B_uc009vkr.3_Intron|CDK11B_uc009vks.3_Intron|CDK11B_uc010nys.2_Intron			P21127	CD11B_HUMAN	Homo sapiens cyclin-dependent kinase 11A (CDK11A), transcript variant 1, mRNA.	0	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						GGGGCCCTGTCGGAAAAGCCT	0.607													T	1636296	C	T	1636296	3	4	157	1	0	0	0	0	1	0	0	0	3157	899	31	1		1	CDK11B	1	1636296	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		1636296	247614325	1	10834											
HES5	388585	broad.mit.edu	37	chr1	2461382	2461382	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaactcctgctccagcagCagcttcagctgctcgatgct	7	9	10	15	2	1	0	1	0	0	0	4	2	3	0	2	0	8	7	2	0	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:2461382C>G	uc001ajn.3	-	1	204	c.123G>C	c.(121-123)ctG>ctC	p.L41L		NM_001010926	NP_001010926	Q5TA89	HES5_HUMAN	Homo sapiens hairy and enhancer of split 5 (Drosophila) (HES5), mRNA.	41	Helix-loop-helix motif.				transcription, DNA-dependent	nucleus				lung(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;4.41e-16)|all_lung(118;6.66e-07)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Lung SC(97;0.109)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;2.59e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GCTCCAGCAGCAGCTTCAGCT	0.647													G	2461382	C	G	2461382	2	3	157	1	0	0	0	0	0	0	0	1	7124	697	25	4		4	HES5	1	2461382	Silent	SNP	C	TCGA-19-2624-01A-01D-1495-08	825086	2461382	246789239	2	10835											
PTPRF	5792	broad.mit.edu	37	chr1	44085120	44085120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtgttcatccatgaggCgctgctggaggctgccacgt	6	10	14	11	3	1	1	1	1	0	0	2	2	2	2	2	3	3	5	2	3	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:44085120C>A	uc001cjr.3	+	27	5148	c.4808C>A	c.(4807-4809)gCg>gAg	p.A1603E	PTPRF_uc001cjs.3_Missense_Mutation_p.A1594E|PTPRF_uc001cju.3_Missense_Mutation_p.A992E|PTPRF_uc009vwt.3_Missense_Mutation_p.A1163E|PTPRF_uc001cjv.3_Missense_Mutation_p.A1074E|PTPRF_uc001cjw.3_Missense_Mutation_p.A829E	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1603	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATCCATGAGGCGCTGCTGGAG	0.607													A	44085120	C	A	44085120	3	1	157	1	0	0	0	0	1	0	0	0	12889	768	27	4	4910	4	PTPRF	1	44085120	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	41623738	44085120	205165501	3	10836											
KANK4	163782	broad.mit.edu	37	chr1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacttccggctggagacgCggaaccactcttgactgatg	9	8	12	12	4	1	3	0	2	1	1	2	6	2	4	2	3	1	1	2	3	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:62728946C>T	uc001dah.4	-	6	2734	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_uc001dai.4_Missense_Mutation_p.R158H|KANK4_uc001daf.4_5'UTR|KANK4_uc001dag.4_Missense_Mutation_p.R142H	NM_181712	NP_859063	Q5T7N3	KANK4_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 4 (KANK4), mRNA.	786				R -> H (in Ref. 1; BAC03774).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562													T	62728946	C	T	62728946	3	4	157	1	0	0	0	0	1	0	0	0	8037	768	27	1	646	1	KANK4	1	62728946	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	18643826	62728946	186521675	4	10837											
CSDE1	7812	broad.mit.edu	37	chr1	115272925	115272925	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttaggattggaaaaaGtggcttctttttctaccgtg	8	17	11	5	1	2	0	0	0	2	0	2	2	2	2	1	4	1	2	1	4	4	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:115272925G>C	uc001efi.3	-	12	1970	c.1448C>G	c.(1447-1449)aCt>aGt	p.T483S	CSDE1_uc001efj.3_Non-coding_Transcript|CSDE1_uc001efk.3_Missense_Mutation_p.T437S|CSDE1_uc001efm.3_Missense_Mutation_p.T452S|CSDE1_uc009wgv.3_Missense_Mutation_p.T437S|CSDE1_uc001efl.3_Missense_Mutation_p.T406S|CSDE1_uc001efn.3_Missense_Mutation_p.T406S	NM_001242891	NP_001229820	O75534	CSDE1_HUMAN	Homo sapiens cold shock domain containing E1, RNA-binding (CSDE1), transcript variant 4, mRNA.	437	CSD 6.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGGAAAAAGTGGCTTCTTT	0.378													C	115272925	G	C	115272925	3	2	157	1	0	0	0	0	1	0	0	0	3962	1029	36	4	1122	4	CSDE1	1	115272925	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	52543979	115272925	133977696	5	10838											
F11R	50848	broad.mit.edu	37	chr1	160970003	160970003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgggtgcttttgggattcGtaggcatcactatcccatct	7	13	10	11	2	2	0	1	0	1	0	4	1	3	1	1	3	1	3	1	3	2	5	rs144844671	by1000genomes	TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:160970003G>A	uc009wtt.3	-	4	794	c.524C>T	c.(523-525)aCg>aTg	p.T175M	F11R_uc010pjv.2_Missense_Mutation_p.T126M|F11R_uc010pjw.2_Missense_Mutation_p.T179M|F11R_uc001fxf.4_Missense_Mutation_p.T175M	NM_016946	NP_058642	Q9Y624	JAM1_HUMAN	Homo sapiens F11 receptor (F11R), mRNA.	175	Ig-like V-type 2.				blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			TTTGGGATTCGTAGGCATCAC	0.517													A	160970003	G	A	160970003	3	1	157	1	0	0	0	0	1	0	0	0	5380	1145	40	1	399	1	F11R	1	160970003	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	45697078	160970003	88280618	6	10839											
LAMC1	3915	broad.mit.edu	37	chr1	183101569	183101569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatgacattgttcgagtgGcaaagacagccaatgatacg	13	9	11	8	2	0	4	0	3	0	1	1	5	0	4	1	1	2	2	1	1	3	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:183101569G>A	uc001gpy.4	+	20	3858	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1201	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTTCGAGTGGCAAAGACAGC	0.388													A	183101569	G	A	183101569	3	1	157	1	0	0	0	0	1	0	0	0	8673	1203	42	2	3683	2	LAMC1	1	183101569	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	22131566	183101569	66149052	7	10840											
ZC3H11A	9877	broad.mit.edu	37	chr1	203818961	203818961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagtcttgacacctcttcgGggagatgtagcctcttgcaa	8	12	10	11	1	4	2	1	1	3	1	5	3	4	2	2	2	2	2	2	2	2	4			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:203818961G>A	uc001hac.3	+	16	2362	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	ZC3H11A_uc001had.3_Silent_p.R582R|ZC3H11A_uc001hae.3_Silent_p.R582R|ZC3H11A_uc001haf.3_Silent_p.R582R|ZC3H11A_uc010pqm.2_Silent_p.R528R|ZC3H11A_uc001hag.1_Silent_p.R582R	NM_014827	NP_055642	O75152	ZC11A_HUMAN	Homo sapiens zinc finger CCCH-type containing 11A (ZC3H11A), mRNA.	582							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CACCTCTTCGGGGAGATGTAG	0.493													A	203818961	G	A	203818961	2	1	157	1	0	0	0	0	0	0	0	1	17661	1219	43	2		2	ZC3H11A	1	203818961	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	20717392	203818961	45431660	8	10841											
CEP170	9859	broad.mit.edu	37	chr1	243362438	243362438	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttcatccacctcatcAtccccccaccatgacggctg	7	12	4	18	1	3	1	3	1	0	0	5	1	5	1	6	1	0	1	6	1	0	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr1:243362438A>G	uc021plo.1	-	6	963	c.555T>C	c.(553-555)gaT>gaC	p.D185D	CEP170_uc021plp.1_Silent_p.D185D|CEP170_uc021plq.1_Silent_p.D185D	NM_014812	NP_055627	Q5SW79	CE170_HUMAN	Homo sapiens centrosomal protein 170kDa (CEP170), transcript variant alpha, mRNA.	185						centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCACCTCATCATCCCCCCACC	0.428													G	243362438	A	G	243362438	2	3	157	1	0	0	0	0	0	0	0	1	3280	214	8	3		3	CEP170	1	243362438	Silent	SNP	A	TCGA-19-2624-01A-01D-1495-08	39543477	243362438	5888183	9	10842											
TTN	7273	broad.mit.edu	37	chr2	179442793	179442793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaattgattgccataactcGgaattcatattcaagacctt	14	14	5	8	1	2	2	2	1	0	1	3	3	2	3	2	1	2	0	2	1	6	8			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:179442793G>A	uc021vsy.1	-	270	60970	c.60745C>T	c.(60745-60747)Cga>Tga	p.R20249*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R13944*|TTN_uc021vta.1_Nonsense_Mutation_p.R13877*|TTN_uc021vtb.1_Nonsense_Mutation_p.R13752*|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21176	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R13944*(1)|p.R20247*(1)|p.R20249*(1)|p.R13752*(1)|p.R13877*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATAACTCGGAATTCATAT	0.423													A	179442793	G	A	179442793	4	1	157	1	0	0	0	0	0	1	0	0	16837	1124	39	1	39694	1	TTN	2	179442793	Nonsense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		179442793	63756580	10	10843											
KCTD18	130535	broad.mit.edu	37	chr2	201371625	201371625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgaccactgaacatagatgCcaacatggagtccttgaagc	13	7	10	11	1	0	3	0	2	0	1	1	5	1	4	3	1	4	0	3	1	4	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:201371625C>A	uc002uvs.3	-	1	632	c.115G>T	c.(115-117)Gca>Tca	p.A39S	KCTD18_uc002uvt.3_Missense_Mutation_p.A39S|KCTD18_uc002uvu.1_Missense_Mutation_p.A39S	NM_152387	NP_689600	Q6PI47	KCD18_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 18 (KCTD18), mRNA.	39	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						AACATAGATGCCAACATGGAG	0.458													A	201371625	C	A	201371625	3	1	157	1	0	0	0	0	1	0	0	0	8163	739	26	4	1189	4	KCTD18	2	201371625	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	21928832	201371625	41827748	11	10844											
PARD3B	117583	broad.mit.edu	37	chr2	205986432	205986432	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctctcttaacatttttggTaataatgatggcgttttgaa	10	17	9	5	1	1	2	0	2	1	0	2	2	1	2	0	3	1	3	0	3	4	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:205986432T>C	uc002var.2	+	7	1131	c.924T>C	c.(922-924)ggT>ggC	p.G308G	PARD3B_uc010fub.2_Silent_p.G308G|PARD3B_uc002vao.2_Silent_p.G308G|PARD3B_uc002vap.2_Silent_p.G308G|PARD3B_uc002vaq.2_Silent_p.G308G	NM_205863	NP_689739	Q8TEW8	PAR3L_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog B (C. elegans) (PARD3B), mRNA.	308					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		ACATTTTTGGTAATAATGATG	0.453													C	205986432	T	C	205986432	2	2	157	1	0	0	0	0	0	0	0	1	11520	1625	57	3		3	PARD3B	2	205986432	Silent	SNP	T	TCGA-19-2624-01A-01D-1495-08	4614807	205986432	37212941	12	10845											
ALPP	250	broad.mit.edu	37	chr2	233244353	233244353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccagtgcaacacgacacGcggcaacgaggtcatctccg	12	5	10	14	5	2	0	1	0	1	0	3	2	2	0	2	2	4	2	2	2	3	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr2:233244353G>A	uc002vsq.3	+	3	605	c.440G>A	c.(439-441)cGc>cAc	p.R147H		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	147						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		AACACGACACGCGGCAACGAG	0.607													A	233244353	G	A	233244353	3	1	157	1	0	0	0	0	1	0	0	0	548	1087	38	1	454	1	ALPP	2	233244353	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	27257921	233244353	9955020	13	10846											
HES1	3280	broad.mit.edu	37	chr3	193855643	193855643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagatcaatgccatgacctAccccgggcagccgcaccccg	9	4	9	19	3	1	2	1	1	0	1	1	2	1	2	8	1	3	2	8	1	2	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr3:193855643A>C	uc003ftq.2	+	3	703	c.464A>C	c.(463-465)tAc>tCc	p.Y155S		NM_005524	NP_005515	Q14469	HES1_HUMAN	Homo sapiens hairy and enhancer of split 1, (Drosophila) (HES1), mRNA.	155					endocrine pancreas development|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway	nucleus	histone deacetylase binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	6	all_cancers(143;7.3e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;3.65e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.48e-05)		GCCATGACCTACCCCGGGCAG	0.731													C	193855643	A	C	193855643	3	2	157	1	0	0	0	0	1	0	0	0	7120	391	14	5	478	5	HES1	3	193855643	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		193855643	4166787	14	10847											
PLCXD3	345557	broad.mit.edu	37	chr5	41313846	41313846	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcttctgcgtgcggAcccactgcatcatggcagga	6	9	12	14	2	2	0	1	0	1	0	3	2	3	2	2	4	3	3	2	4	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:41313846A>T	uc003jmm.1	-	2	941	c.839T>A	c.(838-840)gTc>gAc	p.V280D		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	280					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						CTGCGTGCGGACCCACTGCAT	0.433													T	41313846	A	T	41313846	3	4	157	1	0	0	0	0	1	0	0	0	12120	275	10	5	130	5	PLCXD3	5	41313846	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		41313846	139601414	15	10848											
NMUR2	56923	broad.mit.edu	37	chr5	151784217	151784217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctctgcagtttggcgCggaacgggtgtaggatggcc	5	9	19	8	3	1	0	0	0	1	0	1	2	1	2	1	6	3	4	1	6	2	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:151784217C>T	uc003luv.2	-	0	624	c.458G>A	c.(457-459)cGc>cAc	p.R153H		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	153					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CAGTTTGGCGCGGAACGGGTG	0.637													T	151784217	C	T	151784217	3	4	157	1	0	0	0	0	1	0	0	0	10583	768	27	1	805	1	NMUR2	5	151784217	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	110470371	151784217	29131043	16	10849											
DOCK2	1794	broad.mit.edu	37	chr5	169508958	169508958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacaagaagacactcacacgGaagaaggtcaatcagttctt	16	7	9	9	1	4	3	3	0	1	3	4	5	4	4	0	2	0	1	0	2	5	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr5:169508958G>A	uc003maf.3	+	50	5480	c.5400G>A	c.(5398-5400)cgG>cgA	p.R1800R	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Silent_p.R1292R|DOCK2_uc003mah.3_Silent_p.R356R	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1800					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACTCACACGGAAGAAGGTCA	0.527													A	169508958	G	A	169508958	2	1	157	1	0	0	0	0	0	0	0	1	4726	1161	41	2		2	DOCK2	5	169508958	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	17724741	169508958	11406302	17	10850											
C6orf195	154386	broad.mit.edu	37	chr6	2623743	2623743	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctcagatggcagggagtgGcctggtcactgttgatcttg	6	13	14	8	0	3	2	2	1	2	1	4	3	3	3	1	4	0	2	1	4	0	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:2623743G>C	uc003mtw.2	-	2	1299	c.314C>G	c.(313-315)gCc>gGc	p.A105G	C6orf195_uc021ykp.1_Missense_Mutation_p.A105G	NM_152554	NP_689767	Q96MT4	CF195_HUMAN	Homo sapiens chromosome 6 open reading frame 195 (C6orf195), mRNA.	105										cervix(1)|endometrium(1)|lung(2)|skin(1)	5	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GCAGGGAGTGGCCTGGTCACT	0.547													C	2623743	G	C	2623743	3	2	157	1	0	0	0	0	1	0	0	0	2372	1203	42	4	73	4	C6orf195	6	2623743	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		2623743	168491324	18	10851											
LRRC1	55227	broad.mit.edu	37	chr6	53784332	53784332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatccctgactgccttgaaGttgaaggctctgtggctatc	7	14	10	10	0	1	3	0	3	1	0	3	3	2	3	2	2	1	3	2	2	4	4			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:53784332G>C	uc003pcd.1	+	11	1664	c.1143G>C	c.(1141-1143)aaG>aaC	p.K381N		NM_018214	NP_060684	Q9BTT6	LRRC1_HUMAN	Homo sapiens leucine rich repeat containing 1 (LRRC1), mRNA.	381						cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		CTGCCTTGAAGTTGAAGGCTC	0.398													C	53784332	G	C	53784332	3	2	157	1	0	0	0	0	1	0	0	0	9036	1020	36	4	1189	4	LRRC1	6	53784332	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	51160589	53784332	117330735	19	10852											
AKD1	221264	broad.mit.edu	37	chr6	109993332	109993332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaccataactcctgattCggtttcagcagcaatctgtt	9	15	7	10	1	2	1	1	1	1	0	4	1	3	1	2	1	4	5	2	1	3	6			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:109993332C>T	uc003ptn.2	-	3	297	c.220G>A	c.(220-222)Gaa>Aaa	p.E74K	AKD1_uc003ptr.4_Missense_Mutation_p.E74K|AKD1_uc003pts.2_Non-coding_Transcript	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	74					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						ACTCCTGATTCGGTTTCAGCA	0.279													T	109993332	C	T	109993332	3	4	157	1	0	0	0	0	1	0	0	0	460	893	31	1	5679	1	AKD1	6	109993332	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	56209000	109993332	61121735	20	10853											
VNN1	8876	broad.mit.edu	37	chr6	133005540	133005540	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaagacatactgggttccGaaagtgccactgagggagaa	14	6	14	7	1	0	3	0	1	0	2	1	6	1	4	2	3	2	1	2	3	4	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr6:133005540G>A	uc003qdo.3	-	5	1313	c.1293C>T	c.(1291-1293)ttC>ttT	p.F431F	VNN1_uc003qdn.3_Non-coding_Transcript	NM_004666	NP_004657	O95497	VNN1_HUMAN	Homo sapiens vanin 1 (VNN1), mRNA.	431					acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		ACTGGGTTCCGAAAGTGCCAC	0.418													A	133005540	G	A	133005540	2	1	157	1	0	0	0	0	0	0	0	1	17284	1049	37	1		1	VNN1	6	133005540	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	23012208	133005540	38109527	21	10854											
EGFR	1956	broad.mit.edu	37	chr7	55210077	55210078	+	Missense_Mutation	DNP	GG	GG	AA																															ataactgtgaggtggtccttGggaatttggaaattacctat																										TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:55210077_55210078GG>AA	uc003tqk.3	+	1	433_434	c.187_188GG>AA	c.(187-189)ggg>AAg	p.G63K	EGFR_uc003tqh.3_Missense_Mutation_p.G63K|EGFR_uc003tqi.3_Missense_Mutation_p.G63K|EGFR_uc003tqj.3_Missense_Mutation_p.G63K|EGFR_uc022adm.1_Missense_Mutation_p.G63K|EGFR_uc010kzg.2_Missense_Mutation_p.G63K|EGFR_uc022adn.1_Missense_Mutation_p.G63K|EGFR_uc011kco.2_Missense_Mutation_p.G10K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	63					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.G63R(2)|p.L62R(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGGTCCTTGGGAATTTGGAA	0.396		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			AA	55210078	GG	AA	55210077	3	1	157	1	0	0	0	0	1	0	0	0	5006	1348	47	2	193	2	EGFR	7	55210077	Missense_Mutation	DNP	GG	TCGA-19-2624-01A-01D-1495-08		55210077	103928586	22	10855											
STEAP1	26872	broad.mit.edu	37	chr7	89794038	89794038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taacaaaactgagatatgttCccagttgtagaattactgtt	14	14	7	6	0	0	2	0	1	0	2	1	3	1	2	1	0	3	4	1	0	7	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:89794038C>A	uc003ujx.3	+	4	1210	c.1010C>A	c.(1009-1011)tCc>tAc	p.S337Y	STEAP2_uc003ujy.2_5'Flank	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	337					electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GAGATATGTTCCCAGTTGTAG	0.299													A	89794038	C	A	89794038	3	1	157	1	0	0	0	0	1	0	0	0	15373	855	30	4	1024	4	STEAP1	7	89794038	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	34583961	89794038	69344625	23	10856											
LHFPL3	375612	broad.mit.edu	37	chr7	104377161	104377161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtatgattttccctgatgGctgggactcagatgaagtaa	10	13	11	7	0	1	4	1	3	0	1	2	5	2	5	1	2	0	3	1	2	3	4			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr7:104377161G>C	uc003vce.3	+	1	609	c.485G>C	c.(484-486)gGc>gCc	p.G162A	LHFPL3_uc003vcf.3_Missense_Mutation_p.G162A	NM_199000	NP_945351	Q86UP9	LHPL3_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 3 (LHFPL3), mRNA.	148						integral to membrane				kidney(1)|large_intestine(2)|lung(6)	9						TTCCCTGATGGCTGGGACTCA	0.418													C	104377161	G	C	104377161	3	2	157	1	0	0	0	0	1	0	0	0	8826	1203	42	4	491	4	LHFPL3	7	104377161	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	14583123	104377161	54761502	24	10857											
DAB2IP	153090	broad.mit.edu	37	chr9	124538504	124538504	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgctgcaggacaagctgCgaatctccaccaagaagctg	11	6	12	12	2	1	1	0	0	1	1	2	3	1	2	2	2	5	4	2	2	4	0			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr9:124538504C>T	uc004bln.3	+	13	3133	c.3064C>T	c.(3064-3066)Cga>Tga	p.R1022*	DAB2IP_uc004blo.3_Nonsense_Mutation_p.R926*|DAB2IP_uc004blp.3_Nonsense_Mutation_p.R455*	NM_032552	NP_115941	Q5VWQ8	DAB2P_HUMAN	Homo sapiens DAB2 interacting protein (DAB2IP), transcript variant 1, mRNA.	1050					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GGACAAGCTGCGAATCTCCAC	0.622													T	124538504	C	T	124538504	4	4	157	1	0	0	0	0	0	1	0	0	4253	760	27	1	3118	1	DAB2IP	9	124538504	Nonsense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		124538504	16674927	25	10858											
ALDH18A1	5832	broad.mit.edu	37	chr10	97396856	97396856	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcctctcacctgggcAgcacagatgctgtactgggt	7	8	12	14	0	1	1	1	0	1	1	2	1	1	1	3	2	4	4	3	2	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:97396856A>T	uc001kkz.3	-	4	794	c.552T>A	c.(550-552)gcT>gcA	p.A184A	ALDH18A1_uc001kky.3_Silent_p.A184A|ALDH18A1_uc010qog.2_Silent_p.A73A|ALDH18A1_uc010qoh.2_Intron	NM_002860	NP_002851	P54886	P5CS_HUMAN	Homo sapiens aldehyde dehydrogenase 18 family, member A1 (ALDH18A1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184	Glutamate 5-kinase.				proline biosynthetic process	mitochondrial inner membrane	ATP binding|glutamate 5-kinase activity|glutamate-5-semialdehyde dehydrogenase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(9)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Colorectal(252;0.0402)		Epithelial(162;9.1e-07)|all cancers(201;2.55e-05)	L-Glutamic Acid(DB00142)	TCACCTGGGCAGCACAGATGC	0.547													T	97396856	A	T	97396856	2	4	157	1	0	0	0	0	0	0	0	1	489	175	7	5		5	ALDH18A1	10	97396856	Silent	SNP	A	TCGA-19-2624-01A-01D-1495-08		97396856	38137891	26	10859											
ADAM8	101	broad.mit.edu	37	chr10	135084467	135084467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccggagcagggcgtgccGttctcctggaaggcgtcttc	4	8	14	15	4	2	0	0	0	2	0	4	2	2	2	4	4	2	2	4	4	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr10:135084467G>A	uc021qbe.1	-	13	1568	c.1482C>T	c.(1480-1482)aaC>aaT	p.N494N	ADAM8_uc009ybi.3_Silent_p.N494N|ADAM8_uc010qva.2_Silent_p.N455N	NM_001109	NP_001100	B4DVM6	B4DVM6_HUMAN	Homo sapiens ADAM metallopeptidase domain 8 (ADAM8), transcript variant 1, mRNA.	455					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		AGGGCGTGCCGTTCTCCTGGA	0.667													A	135084467	G	A	135084467	2	1	157	1	0	0	0	0	0	0	0	1	252	1136	40	1		1	ADAM8	10	135084467	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	37687611	135084467	450280	27	10860											
C11orf35	256329	broad.mit.edu	37	chr11	558885	558885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcagaccaccggtgcGgggtggggcgtggtgtctgg	5	6	21	9	3	1	2	0	0	1	2	1	2	1	2	2	7	2	2	2	7	0	0			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:558885G>A	uc001lpx.3	-	1	192	c.129C>T	c.(127-129)ccC>ccT	p.P43P	AX748330_uc001lpy.3_Non-coding_Transcript|BC031953_uc001lpz.3_5'Flank|RASSF7_uc001lqb.3_5'Flank|RASSF7_uc001lqc.3_5'Flank|RASSF7_uc001lqd.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	43										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCACCGGTGCGGGGTGGGGCG	0.692													A	558885	G	A	558885	2	1	157	1	0	0	0	0	0	0	0	1	1650	1103	39	1		1	C11orf35	11	558885	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08		558885	134447631	28	10861											
OR51E2	81285	broad.mit.edu	37	chr11	4703127	4703127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtcacccatgacaacaCgcacaatgggatgaaggctg	14	6	11	10	1	1	3	1	2	0	1	1	4	1	4	1	2	1	2	1	2	3	0	rs138231892		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:4703127C>T	uc001lzk.2	-	1	1059	c.815G>A	c.(814-816)cGt>cAt	p.R272H	OR51E2_uc021qcr.1_Missense_Mutation_p.R272H	NM_030774	NP_110401	Q9H255	O51E2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 2 (OR51E2), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		CATGACAACACGCACAATGGG	0.507													T	4703127	C	T	4703127	3	4	157	1	0	0	0	0	1	0	0	0	11171	536	19	1	151	1	OR51E2	11	4703127	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	4144242	4703127	130303389	29	10862											
OR52N4	390072	broad.mit.edu	37	chr11	5776764	5776764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccttcttttcccaccGctttggggaacacataatcc	7	14	5	15	1	2	0	0	0	2	0	5	1	4	1	4	2	1	1	4	2	2	6			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:5776764G>A	uc001mbu.3	+	0	842	c.794G>A	c.(793-795)cGc>cAc	p.R265H	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001005175	NP_001005175	Q8NGI2	O52N4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 4 (OR52N4), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TTTTCCCACCGCTTTGGGGAA	0.468													A	5776764	G	A	5776764	3	1	157	1	0	0	0	0	1	0	0	0	11205	1087	38	1	796	1	OR52N4	11	5776764	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	1073637	5776764	129229752	30	10863											
OR8I2	120586	broad.mit.edu	37	chr11	55861299	55861299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggcgttctgtgattccagCatcaatcattttttttgtga	7	19	8	7	1	3	2	2	2	1	0	4	2	4	2	1	1	1	2	1	1	1	7			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:55861299C>A	uc010rix.2	+	0	516	c.516C>A	c.(514-516)agC>agA	p.S172R		NM_001003750	NP_001003750	Q8N0Y5	OR8I2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily I, member 2 (OR8I2), mRNA.	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GTGATTCCAGCATCAATCATT	0.448													A	55861299	C	A	55861299	3	1	157	1	0	0	0	0	1	0	0	0	11316	709	25	4	518	4	OR8I2	11	55861299	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	50084535	55861299	79145217	31	10864											
TBC1D10C	374403	broad.mit.edu	37	chr11	67177159	67177159	+	Frame_Shift_Del	DEL	C	C	-																															ctcctgactcgggcccggggCccccccatcgaggggccccc																										TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:67177159delC	uc001ola.3	+	9	1304	c.1275delC	c.(1273-1275)ggcfs	p.G425fs	PPP1CA_uc001okx.1_Intron|TBC1D10C_uc001okz.3_3'UTR|TBC1D10C_uc001olb.3_Non-coding_Transcript	NM_198517	NP_940919	Q8IV04	TB10C_HUMAN	Homo sapiens TBC1 domain family, member 10C (TBC1D10C), mRNA.	425	Interaction with calcineurin.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GGGCCCGGGGCCCCCCCATCG	0.682													-	67177159	C	-	67177159	7	5	157	1	0	1	0	1	0	0	0	0	15697	726	26	0	1309	0	TBC1D10C	11	67177159	Frame_Shift_Del	DEL	C	TCGA-19-2624-01A-01D-1495-08	11315860	67177159	67829357	32	10865											
ST14	6768	broad.mit.edu	37	chr11	130069857	130069857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctgcagactgtgggctgCggtcattcacgagacaggct	7	9	13	12	2	3	2	2	0	1	2	3	3	3	2	1	3	2	3	1	3	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr11:130069857C>T	uc001qfw.3	+	15	2012	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	607					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CTGTGGGCTGCGGTCATTCAC	0.612													T	130069857	C	T	130069857	3	4	157	1	0	0	0	0	1	0	0	0	15307	759	27	1	1881	1	ST14	11	130069857	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	62892698	130069857	4936659	33	10866											
FOXJ2	55810	broad.mit.edu	37	chr12	8201337	8201337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattgactctttaaaggaaAgcttcaagatggtgaatcgg	14	12	10	5	1	2	3	1	2	1	1	3	4	2	4	0	3	1	1	0	3	6	5			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:8201337A>G	uc001qtu.3	+	7	2355	c.1270A>G	c.(1270-1272)Agc>Ggc	p.S424G	FOXJ2_uc001qtt.1_Missense_Mutation_p.S424G	NM_018416	NP_060886	Q9P0K8	FOXJ2_HUMAN	Homo sapiens forkhead box J2 (FOXJ2), mRNA.	424					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TTTAAAGGAAAGCTTCAAGAT	0.428													G	8201337	A	G	8201337	3	3	157	1	0	0	0	0	1	0	0	0	6063	72	3	3	1296	3	FOXJ2	12	8201337	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		8201337	125650558	34	10867											
CACNB3	784	broad.mit.edu	37	chr12	49217552	49217552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtccagggctctggagtcaActttgaggccaaagattttc	10	11	11	9	0	2	2	1	1	1	1	4	3	3	3	2	3	1	1	2	3	2	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:49217552A>G	uc001rsl.2	+	2	716	c.257A>G	c.(256-258)aAc>aGc	p.N86S	CACNB3_uc010slx.2_Missense_Mutation_p.N73S|CACNB3_uc010sly.2_Missense_Mutation_p.N73S|CACNB3_uc010slz.2_Missense_Mutation_p.N85S|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Intron	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	86	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	TCTGGAGTCAACTTTGAGGCC	0.493													G	49217552	A	G	49217552	3	3	157	1	0	0	0	0	1	0	0	0	2580	43	2	3	267	3	CACNB3	12	49217552	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08	41016215	49217552	84634343	35	10868											
ESPL1	9700	broad.mit.edu	37	chr12	53662942	53662942	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcttgccctaggcatctgggGagcctgctggagctggcaga	6	8	16	11	0	1	1	0	0	1	1	1	3	1	3	2	5	4	5	2	5	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:53662942G>A	uc001sck.2	+	2	307	c.216G>A	c.(214-216)ggG>ggA	p.G72G	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	72					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						GGCATCTGGGGAGCCTGCTGG	0.567													A	53662942	G	A	53662942	2	1	157	1	0	0	0	0	0	0	0	1	5294	1161	41	2		2	ESPL1	12	53662942	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	4445390	53662942	80188953	36	10869											
NEDD1	121441	broad.mit.edu	37	chr12	97345747	97345747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaatgcattctttgctGgaaagatactcagtgaatga	15	12	9	5	0	2	4	1	3	1	1	2	5	2	5	0	1	3	2	0	1	5	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:97345747G>A	uc001tew.3	+	14	2066	c.1920G>A	c.(1918-1920)ctG>ctA	p.L640L	NEDD1_uc001teu.4_Silent_p.L633L|NEDD1_uc001tev.4_Silent_p.L633L|NEDD1_uc010svc.2_Silent_p.L544L|NEDD1_uc001tex.3_Silent_p.L544L	NM_001135175	NP_001128649	Q8NHV4	NEDD1_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 1 (NEDD1), transcript variant 1, mRNA.	633					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						ATTCTTTGCTGGAAAGATACT	0.323													A	97345747	G	A	97345747	2	1	157	1	0	0	0	0	0	0	0	1	10385	1335	47	2		2	NEDD1	12	97345747	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	43682805	97345747	36506148	37	10870											
ATXN2	6311	broad.mit.edu	37	chr12	111895056	111895056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgacttccaccatgttGgctttgctgctgtccagtgg	6	13	12	10	0	0	1	0	1	0	0	2	2	2	2	3	3	2	4	3	3	0	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:111895056G>A	uc001tsj.3	-	21	3640	c.3478C>T	c.(3478-3480)Caa>Taa	p.Q1160*	ATXN2_uc001tsh.3_Nonsense_Mutation_p.Q895*|ATXN2_uc001tsi.3_Nonsense_Mutation_p.Q853*|ATXN2_uc001tsk.3_Non-coding_Transcript|ATXN2_uc001tsl.1_Nonsense_Mutation_p.Q161*	NM_002973	NP_002964	Q99700	ATX2_HUMAN	Homo sapiens ataxin 2 (ATXN2), mRNA.	1160					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CCACCATGTTGGCTTTGCTGC	0.552													A	111895056	G	A	111895056	4	1	157	1	0	0	0	0	0	1	0	0	1216	1357	47	2	479	2	ATXN2	12	111895056	Nonsense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	14549309	111895056	21956839	38	10871											
FZD10	11211	broad.mit.edu	37	chr12	130648665	130648665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcatggacgtcaacgCgctcaccggcttcgtgctca	7	7	13	14	5	3	0	3	0	0	0	4	1	3	1	1	3	3	5	1	3	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr12:130648665C>T	uc001uii.3	+	0	1662	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	393					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.A393S(1)|p.N392K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GACGTCAACGCGCTCACCGGC	0.657													T	130648665	C	T	130648665	3	4	157	1	0	0	0	0	1	0	0	0	6181	768	27	1	1180	1	FZD10	12	130648665	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	18753609	130648665	3203230	39	10872											
CYP46A1	10858	broad.mit.edu	37	chr14	100166408	100166408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgctggcacaagcagcGgagagtcatagacctggcct	10	6	14	11	2	1	3	1	1	0	2	1	4	1	3	2	3	3	3	2	3	2	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:100166408G>A	uc001ygo.3	+	4	413	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	CYP46A1_uc001ygn.1_Missense_Mutation_p.R100Q	NM_006668	NP_006659	Q9Y6A2	CP46A_HUMAN	Homo sapiens cytochrome P450, family 46, subfamily A, polypeptide 1 (CYP46A1), mRNA.	138					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity	p.Q137Q(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				CACAAGCAGCGGAGAGTCATA	0.627													A	100166408	G	A	100166408	3	1	157	1	0	0	0	0	1	0	0	0	4215	1116	39	1	431	1	CYP46A1	14	100166408	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		100166408	7183132	40	10873											
AHNAK2	113146	broad.mit.edu	37	chr14	105410901	105410901	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttggcagtcacgtcCttgtcagccagggacaggtc	6	11	12	12	1	3	0	2	0	1	0	5	1	4	1	2	3	1	1	2	3	0	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105410901C>A	uc010axc.1	-	6	11007	c.10887G>T	c.(10885-10887)aaG>aaT	p.K3629N	AHNAK2_uc021sen.1_5'Flank|AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.K3529N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3629						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAGTCACGTCCTTGTCAGCCA	0.597													A	105410901	C	A	105410901	3	1	157	1	0	0	0	0	1	0	0	0	415	680	24	4	6504	4	AHNAK2	14	105410901	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	5244493	105410901	1938639	41	10874											
AHNAK2	113146	broad.mit.edu	37	chr14	105418389	105418389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttggctcccggggcctcGacgtccacctccacgctggg	4	7	13	17	4	0	0	0	0	0	0	4	1	3	0	5	4	1	3	5	4	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr14:105418389G>A	uc010axc.1	-	6	3519	c.3399C>T	c.(3397-3399)gtC>gtT	p.V1133V	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.V1033V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1133						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGGGGCCTCGACGTCCACCT	0.632													A	105418389	G	A	105418389	2	1	157	1	0	0	0	0	0	0	0	1	415	1045	37	1		1	AHNAK2	14	105418389	Silent	SNP	G	TCGA-19-2624-01A-01D-1495-08	7488	105418389	1931151	42	10875											
OR4N4	283694	broad.mit.edu	37	chr15	22332433	22332433	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaacaagattctaacGtgacagaacttgttcttctg	17	11	6	7	1	3	3	0	1	3	2	3	3	3	3	0	0	3	1	0	0	7	5			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:22332433G>A	uc001yuc.1	+	2					abParts_uc001yuj.2_Intron|OR4N4_uc001ytz.1_Intron|OR4N4_uc001yua.3_Non-coding_Transcript|OR4N4_uc001yub.1_Intron	NM_001005241	NP_001005241	Q8N0Y3	OR4N4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily N, member 4 (OR4N4), mRNA.						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(19)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	40		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		AGATTCTAACGTGACAGAACT	0.343													A	22332433	G	A	22332433	1	1	157	1	0	0	0	0	0	0	0	0	11154	1160	40	1		1	OR4N4	15	22332433	Translation_Start_Site	SNP	G	TCGA-19-2624-01A-01D-1495-08		22332433	80198959	43	10876											
DUOX2	50506	broad.mit.edu	37	chr15	45393418	45393418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgctccccaggtgtcCgagtgatgaacgagactcga	9	7	11	14	4	1	3	1	2	0	1	4	6	3	3	4	1	1	1	4	1	1	0	rs146664125	byFrequency	TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:45393418C>T	uc001zun.3	-	21	3109	c.2906G>A	c.(2905-2907)cGg>cAg	p.R969Q	DUOX2_uc010bea.3_Missense_Mutation_p.R969Q	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	969	Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CCCAGGTGTCCGAGTGATGAA	0.547													T	45393418	C	T	45393418	3	4	157	1	0	0	0	0	1	0	0	0	4840	652	23	1	1792	1	DUOX2	15	45393418	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	23060985	45393418	57137974	44	10877											
CCPG1	9236	broad.mit.edu	37	chr15	55652558	55652559	+	Frame_Shift_Ins	INS	-	-	C																															tagccctgtggcttcctctgINSccccctttcttttttccatc																										TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr15:55652558_55652559insC	uc010bfk.2	-	7	1711_1712	c.1412_1413insG	c.(1411-1413)ggcfs	p.G471fs	CCPG1_uc002acy.3_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acu.2_Frame_Shift_Ins_p.G327fs|CCPG1_uc002acz.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc002acw.2_Frame_Shift_Ins_p.G196fs|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Frame_Shift_Ins_p.G471fs|CCPG1_uc021smu.1_Frame_Shift_Ins_p.G91fs	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	471					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		GGCTTCCTCTGCCCCCTTTCTT	0.391													C	55652559	-	C	55652558	7	5	157	1	0	1	1	0	0	0	0	0	2968	1306	46	0	864	0	CCPG1	15	55652558	Frame_Shift_Ins	INS	-	TCGA-19-2624-01A-01D-1495-08	10259140	55652558	46878834	45	10878											
GFOD2	81577	broad.mit.edu	37	chr16	67709764	67709764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggctgcctgagtagatgCgggcatcacagatcatcacc	10	7	12	12	1	3	3	3	1	0	2	3	3	3	3	2	2	2	4	2	2	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:67709764C>T	uc002eub.3	-	2	747	c.452G>A	c.(451-453)cGc>cAc	p.R151H	GFOD2_uc002euc.3_Missense_Mutation_p.R46H|GFOD2_uc002eua.1_Non-coding_Transcript	NM_030819	NP_110446	Q3B7J2	GFOD2_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 2 (GFOD2), transcript variant 1, mRNA.	151						proteinaceous extracellular matrix	binding|oxidoreductase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0151)|Epithelial(162;0.0505)|all cancers(182;0.242)		TGAGTAGATGCGGGCATCACA	0.592													T	67709764	C	T	67709764	3	4	157	1	0	0	0	0	1	0	0	0	6400	768	27	1	709	1	GFOD2	16	67709764	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		67709764	22644989	46	10879											
CBFA2T3	863	broad.mit.edu	37	chr16	88945788	88945788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgctccgtggtgatgagctCgtgcgctttgcgctccgcgt	3	11	14	13	7	0	2	0	2	0	0	3	2	2	2	2	1	3	4	2	1	0	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr16:88945788C>T	uc002fmm.2	-	10	1841	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	CBFA2T3_uc002fml.2_Missense_Mutation_p.E432K|CBFA2T3_uc002fmk.2_Missense_Mutation_p.E17K	NM_005187	NP_005178	O75081	MTG16_HUMAN	Homo sapiens core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (CBFA2T3), transcript variant 1, mRNA.	518			E -> K (in a colorectal cancer sample; somatic mutation).		cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E518K(2)|p.H517H(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTGATGAGCTCGTGCGCTTTG	0.657			T	RUNX1	AML								T	88945788	C	T	88945788	3	4	157	1	0	0	0	0	1	0	0	0	2724	893	31	1	417	1	CBFA2T3	16	88945788	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	21236024	88945788	1408965	47	10880											
GPR179	440435	broad.mit.edu	37	chr17	36499303	36499303	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gtaccattccacatcctcctCcacactggactcacggatgt	9	10	6	16	1	1	0	1	0	0	0	5	2	5	2	5	2	1	1	5	2	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr17:36499303C>G	uc002hpz.3	-	0	391	c.370G>C	c.(370-372)Gag>Cag	p.E124Q		NM_001004334	NP_001004334	Q6PRD1	GP179_HUMAN	Homo sapiens G protein-coupled receptor 179 (GPR179), mRNA.	124						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				ACATCCTCCTCCACACTGGAC	0.627													G	36499303	C	G	36499303	3	3	157	1	0	0	0	0	1	0	0	0	6728	864	30	4	6777	4	GPR179	17	36499303	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		36499303	44695907	48	10881											
MIER2	54531	broad.mit.edu	37	chr19	307371	307371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcagtgacagctggctggTatgaggctgggtcggccagg	7	7	19	8	1	0	2	0	2	0	0	1	3	0	2	1	6	2	5	1	6	1	1			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:307371T>C	uc002lok.1	-	12	1373	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		AGCTGGCTGGTATGAGGCTGG	0.687													C	307371	T	C	307371	3	2	157	1	0	0	0	0	1	0	0	0	9656	1638	57	3	281	3	MIER2	19	307371	Missense_Mutation	SNP	T	TCGA-19-2624-01A-01D-1495-08		307371	58821612	49	10882											
CHAF1A	10036	broad.mit.edu	37	chr19	4409704	4409704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggccgcctgctccccCaaagcagcacagcagtacca	10	3	11	17	2	0	0	0	0	0	0	1	1	1	0	5	2	5	5	5	2	2	1	rs150305585		TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:4409704C>A	uc002mal.3	+	2	1008	c.908C>A	c.(907-909)cCa>cAa	p.P303Q		NM_005483	NP_005474	Q13111	CAF1A_HUMAN	Homo sapiens chromatin assembly factor 1, subunit A (p150) (CHAF1A), mRNA.	303	Binds to CBX1 chromo shadow domain.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTGCTCCCCCAAAGCAGCAC	0.612								Chromatin Structure					A	4409704	C	A	4409704	3	1	157	1	0	0	0	0	1	0	0	0	3341	594	21	4	918	4	CHAF1A	19	4409704	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08	4102333	4409704	54719279	50	10883											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913972	39913972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggattcccagatgagctgGcattccgctcttgctcagaa	9	10	11	11	1	2	3	1	1	1	2	4	4	4	4	2	2	2	4	2	2	1	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr19:39913972G>A	uc010xuz.2	+	17	2603	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	PLEKHG2_uc010xuy.2_Missense_Mutation_p.A701T|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.A538T	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	760					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGATGAGCTGGCATTCCGCTC	0.597													A	39913972	G	A	39913972	3	1	157	1	0	0	0	0	1	0	0	0	12146	1203	42	2	2344	2	PLEKHG2	19	39913972	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	35504268	39913972	19215011	51	10884											
TGM3	7053	broad.mit.edu	37	chr20	2320632	2320632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgggtaacctgaagatcGagtgagtcctgggcctaagt	9	11	14	7	1	0	3	0	2	0	1	2	4	1	3	3	2	1	2	3	2	3	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:2320632G>A	uc002wfx.4	+	12	2031	c.1934_splice	c.e12+1	p.D645_splice		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	645					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	CCTGAAGATCGAGTGAGTCCT	0.642													A	2320632	G	A	2320632	3	1	157	1	0	0	0	0	1	0	0	0	15931	1072	37	1	1979	1	TGM3	20	2320632	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08		2320632	60704888	52	10885											
SEMG2	6406	broad.mit.edu	37	chr20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtaaagaacaaacttccGtctctggtgcacaaaaaggt	16	9	8	8	1	1	1	0	0	1	1	3	1	2	1	1	2	3	2	1	2	7	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr20:43836470G>A	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.V178I|SEMG2_uc002xnj.2_Missense_Mutation_p.V178I	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423													A	43836470	G	A	43836470	3	1	157	1	0	0	0	0	1	0	0	0	14138	1145	40	1		1	SEMG2	20	43836470	Missense_Mutation	SNP	G	TCGA-19-2624-01A-01D-1495-08	41515838	43836470	19189050	53	10886											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986055	31986055	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatagccatagccacAgagggagcgggagccatagc	12	4	13	12	1	0	1	0	0	0	1	1	3	1	3	4	2	5	1	4	2	3	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr21:31986055A>T	uc002yop.3	-	0	169	c.169T>A	c.(169-171)Tgt>Agt	p.C57S	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	57						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						CCATAGCCACAGAGGGAGCGG	0.567													T	31986055	A	T	31986055	3	4	157	1	0	0	0	0	1	0	0	0	8628	188	7	5	50	5	KRTAP6-1	21	31986055	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		31986055	16143840	54	10887											
MYH9	4627	broad.mit.edu	37	chr22	36689392	36689392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgggcatggagggtggCgatctgcttctccaggttgt	6	11	15	9	1	2	0	0	0	2	0	3	2	2	1	2	5	2	3	2	5	1	2			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chr22:36689392C>T	uc003apg.3	-	29	4309	c.4078G>A	c.(4078-4080)Gcc>Acc	p.A1360T		NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	1360					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGAGGGTGGCGATCTGCTTC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				T	36689392	C	T	36689392	3	4	157	1	0	0	0	0	1	0	0	0	10118	768	27	1	1852	1	MYH9	22	36689392	Missense_Mutation	SNP	C	TCGA-19-2624-01A-01D-1495-08		36689392	14615174	55	10888											
MAGEB18	286514	broad.mit.edu	37	chrX	26157310	26157310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcagggagccccatccAccaccaatgctattgcacct	9	8	7	17	1	1	0	1	0	0	0	2	1	2	1	6	1	3	3	6	1	2	3			TCGA-19-2624-01A-01D-1495-08	TCGA-19-2624-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8f86b64-914c-4d89-897b-33bcdd1759f7	f9b76b10-6585-4724-a373-3c7915d15bff	g.chrX:26157310A>G	uc022bub.1	+	0	208	c.208A>G	c.(208-210)Acc>Gcc	p.T70A	MAGEB18_uc004dbq.2_Missense_Mutation_p.T70A	NM_173699	NP_775970	Q96M61	MAGBI_HUMAN	Homo sapiens melanoma antigen family B, 18 (MAGEB18), mRNA.	70							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGCCCCATCCACCACCAATGC	0.532													G	26157310	A	G	26157310	3	3	157	1	0	0	0	0	1	0	0	0	9250	159	6	3	210	3	MAGEB18	23	26157310	Missense_Mutation	SNP	A	TCGA-19-2624-01A-01D-1495-08		26157310	129113250	56	10889											
SPOCD1	90853	broad.mit.edu	37	chr1	32280067	32280067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggggcccatcccctgtagCgggcaaatatccaaatttct	9	10	9	13	1	1	0	0	0	1	0	3	0	3	0	4	3	1	2	4	3	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:32280067C>T	uc001bts.1	-	1	926	c.868G>A	c.(868-870)Gct>Act	p.A290T	SPOCD1_uc001btu.3_Missense_Mutation_p.A290T|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	290					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TCCCCTGTAGCGGGCAAATAT	0.632													T	32280067	C	T	32280067	3	4	158	1	0	0	0	0	1	0	0	0	15174	768	27	1	2842	1	SPOCD1	1	32280067	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		32280067	216970554	1	10890											
PTPRF	5792	broad.mit.edu	37	chr1	44056912	44056912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgaggcagtgcgggcaCgcacgggagaacaggcgccc	9	1	17	14	5	0	1	0	0	0	1	0	3	0	1	2	4	3	3	2	4	1	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:44056912C>T	uc001cjr.3	+	8	1559	c.1219C>T	c.(1219-1221)Cgc>Tgc	p.R407C	PTPRF_uc001cjs.3_Missense_Mutation_p.R407C|PTPRF_uc001cju.3_5'UTR|PTPRF_uc009vwt.3_5'UTR|PTPRF_uc001cjv.3_5'UTR	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	407	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGTGCGGGCACGCACGGGAGA	0.701													T	44056912	C	T	44056912	3	4	158	1	0	0	0	0	1	0	0	0	12889	536	19	1	1245	1	PTPRF	1	44056912	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	11776845	44056912	205193709	2	10891											
CLCA1	1179	broad.mit.edu	37	chr1	86951220	86951220	+	Frame_Shift_Del	DEL	C	C	-																															caaagaattgtgtgtttagtCcttgacaaatctggaagcat																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:86951220delC	uc001dlt.3	+	5	1190	c.930delC	c.(928-930)gtcfs	p.V310fs	CLCA1_uc001dls.1_Frame_Shift_Del_p.V249fs	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	310	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TGTGTTTAGTCCTTGACAAAT	0.448													-	86951220	C	-	86951220	7	5	158	1	0	1	0	1	0	0	0	0	3488	842	30	0	952	0	CLCA1	1	86951220	Frame_Shift_Del	DEL	C	TCGA-19-2625-01A-01D-1495-08	42894308	86951220	162299401	3	10892											
SLAMF6	114836	broad.mit.edu	37	chr1	160465979	160465979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggactgggtgaagttcagtCgctttccctgtttcggatta	7	14	12	8	2	1	1	1	1	0	0	4	3	2	3	1	3	0	3	1	3	2	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:160465979C>T	uc001fwe.2	-	1	324	c.254G>A	c.(253-255)cGa>cAa	p.R85Q	SLAMF6_uc010pji.2_Intron|SLAMF6_uc001fwd.2_Missense_Mutation_p.R85Q|SLAMF6_uc010pjh.2_Missense_Mutation_p.R36Q|SLAMF6_uc010pjj.2_Intron|SLAMF6_uc009wtm.2_Missense_Mutation_p.R36Q	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	85						integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			GAAGTTCAGTCGCTTTCCCTG	0.463													T	160465979	C	T	160465979	3	4	158	1	0	0	0	0	1	0	0	0	14462	884	31	1	772	1	SLAMF6	1	160465979	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	73514759	160465979	88784642	4	10893											
C1orf49	400798	broad.mit.edu	37	chr1	178514674	178514674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaaagaaagtgagattgagGgaggctgaaagacttggccc	14	7	15	5	0	0	5	0	3	0	3	0	7	0	6	1	3	0	2	1	3	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:178514674G>A	uc001glv.1	+						C1orf220_uc001glx.1_Non-coding_Transcript			Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 3, mRNA.							microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						tgagattgagggaggctgaaa	0.498													A	178514674	G	A	178514674	2	1	158	1	0	0	0	0	0	0	0	1	2062	1247	43	2		2	C1orf49	1	178514674	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	18048695	178514674	70735947	5	10894											
NPHS2	7827	broad.mit.edu	37	chr1	179520378	179520378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggacttgggaaggggAggcttccctgagttctgttg	7	11	17	6	0	1	1	0	1	1	0	2	5	2	5	1	6	0	3	1	6	2	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:179520378A>G	uc001gmq.4	-	7	1167	c.1082T>C	c.(1081-1083)cTc>cCc	p.L361P	AXDND1_uc001gmo.3_Intron|AXDND1_uc009wxg.3_Intron|AXDND1_uc021pfj.1_Intron|AXDND1_uc009wxh.3_Intron|NPHS2_uc009wxi.3_Missense_Mutation_p.L293P|AXDND1_uc001gmr.3_Non-coding_Transcript	NM_014625	NP_055440	Q9NP85	PODO_HUMAN	Homo sapiens nephrosis 2, idiopathic, steroid-resistant (podocin) (NPHS2), mRNA.	361					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						TGGGAAGGGGAGGCTTCCCTG	0.473													G	179520378	A	G	179520378	3	3	158	1	0	0	0	0	1	0	0	0	10659	304	11	3	73	3	NPHS2	1	179520378	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	1005704	179520378	69730243	6	10895											
CENPF	1063	broad.mit.edu	37	chr1	214816089	214816089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatgcagctgggcttggagGaggggctcgttccatccctg	6	9	16	10	1	0	1	0	0	0	1	3	3	2	3	2	5	2	5	2	5	0	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:214816089G>A	uc001hkm.3	+	11	4582	c.4408G>A	c.(4408-4410)Gag>Aag	p.E1470K		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	1566	2 X 96 AA approximate tandem repeats.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.E1470Q(2)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGGCTTGGAGGAGGGGCTCGT	0.478													A	214816089	G	A	214816089	3	1	158	1	0	0	0	0	1	0	0	0	3261	1175	41	2	4450	2	CENPF	1	214816089	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	35295711	214816089	34434532	7	10896											
EPRS	2058	broad.mit.edu	37	chr1	220154727	220154727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgaatacctaccaccacaTtgcaccactgattgagcttg	11	10	8	12	0	0	3	0	3	0	0	0	3	0	3	4	1	4	2	4	1	3	5			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr1:220154727T>C	uc001hly.1	-	23	3716	c.3446A>G	c.(3445-3447)aAt>aGt	p.N1149S	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1149	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TACCACCACATTGCACCACTG	0.358													C	220154727	T	C	220154727	3	2	158	1	0	0	0	0	1	0	0	0	5232	1493	52	3	1128	3	EPRS	1	220154727	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	5338638	220154727	29095894	8	10897											
TGFA	7039	broad.mit.edu	37	chr2	70742029	70742029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttctccaaggcctggcacGcagccaacacaatacctgtt	10	9	8	14	1	1	0	0	0	1	0	2	0	1	0	4	2	3	4	4	2	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:70742029G>A	uc002sgs.4	-	1	304	c.56C>T	c.(55-57)gCg>gTg	p.A19V	TGFA_uc010fdq.3_Missense_Mutation_p.A25V|TGFA_uc010fdr.3_Missense_Mutation_p.A25V|TGFA_uc002sgt.4_Missense_Mutation_p.A19V|TGFA_uc002sgu.3_Missense_Mutation_p.A19V|TGFA_uc002sgv.3_Missense_Mutation_p.A19V|TGFA_uc002sgw.3_Missense_Mutation_p.A19V	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	19					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity	p.A19V(2)		haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						GGCCTGGCACGCAGCCAACAC	0.597													A	70742029	G	A	70742029	3	1	158	1	0	0	0	0	1	0	0	0	15915	1087	38	1	446	1	TGFA	2	70742029	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		70742029	172457344	9	10898											
THNSL2	55258	broad.mit.edu	37	chr2	88472749	88472749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctggctatgcacctgacgGgggcctctttatgcctgaag	6	11	12	12	1	2	2	0	2	2	0	2	2	2	2	3	3	2	2	3	3	3	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:88472749G>A	uc002ssy.4	+	0	1771	c.80G>A	c.(79-81)gGg>gAg	p.G27E	THNSL2_uc002ssw.4_Missense_Mutation_p.G27E|THNSL2_uc002sta.4_Intron|THNSL2_uc010fhe.3_Intron|THNSL2_uc021vkq.1_Missense_Mutation_p.G27E|THNSL2_uc021vkr.1_Missense_Mutation_p.G27E	NM_018271	NP_060741	Q86YJ6	THNS2_HUMAN	Homo sapiens threonine synthase-like 2 (S. cerevisiae) (THNSL2), transcript variant 1, mRNA.	27					threonine biosynthetic process		threonine synthase activity	p.G27V(2)		breast(4)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	27						GCACCTGACGGGGGCCTCTTT	0.607													A	88472749	G	A	88472749	3	1	158	1	0	0	0	0	1	0	0	0	15963	1232	43	2	82	2	THNSL2	2	88472749	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	17730720	88472749	154726624	10	10899											
YSK4	80122	broad.mit.edu	37	chr2	135745654	135745654	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactagggctcccggaggcTcgtttgatgggctgagctca	7	10	14	10	2	1	2	1	2	0	0	3	3	2	3	1	4	2	5	1	4	2	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:135745654T>G	uc002tue.1	-	6	819	c.788A>C	c.(787-789)gAg>gCg	p.E263A	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.E150A|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_5'UTR|YSK4_uc002tui.4_Missense_Mutation_p.E280A	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	263							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCCCGGAGGCTCGTTTGATGG	0.443													G	135745654	T	G	135745654	3	3	158	1	0	0	0	0	1	0	0	0	17597	1551	54	5	3214	5	YSK4	2	135745654	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	47272905	135745654	107453719	11	10900											
ARHGAP15	55843	broad.mit.edu	37	chr2	143913090	143913090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaattctgatacttccGtggaaacactgaattctacc	13	12	5	11	1	2	2	0	2	2	0	3	3	3	3	2	1	4	0	2	1	6	6	rs140767178		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:143913090G>A	uc002tvm.4	+	1	182	c.31G>A	c.(31-33)Gtg>Atg	p.V11M	ARHGAP15_uc010zbl.1_Missense_Mutation_p.V11M	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	11					regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGATACTTCCGTGGAAACACT	0.363													A	143913090	G	A	143913090	3	1	158	1	0	0	0	0	1	0	0	0	869	1145	40	1	33	1	ARHGAP15	2	143913090	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	8167436	143913090	99286283	12	10901											
SCN7A	6332	broad.mit.edu	37	chr2	167262458	167262458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatggggaggtccaaagCaatgagctggcccttgtttg	9	9	14	9	0	0	1	0	1	0	0	1	2	1	2	3	4	3	3	3	4	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:167262458C>A	uc002udu.2	-	24	4811	c.4681G>T	c.(4681-4683)Gct>Tct	p.A1561S	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1561					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGGTCCAAAGCAATGAGCTGG	0.453													A	167262458	C	A	167262458	3	1	158	1	0	0	0	0	1	0	0	0	14016	710	25	4	371	4	SCN7A	2	167262458	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	23349368	167262458	75936915	13	10902											
INPP5D	3635	broad.mit.edu	37	chr2	234106832	234106832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaccaatgcccctgcacGtgaagcagaccttgtcccct	8	7	9	17	1	0	2	0	1	0	1	1	2	1	2	7	1	3	2	7	1	2	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234106832G>A	uc010zmo.2	+	23	2851	c.2698G>A	c.(2698-2700)Gtg>Atg	p.V900M	INPP5D_uc010zmp.2_Missense_Mutation_p.V899M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	929					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCCCCTGCACGTGAAGCAGAC	0.647													A	234106832	G	A	234106832	3	1	158	1	0	0	0	0	1	0	0	0	7814	1145	40	1	2391	1	INPP5D	2	234106832	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	66844374	234106832	9092541	14	10903											
UGT1A1	54658	broad.mit.edu	37	chr2	234669017	234669017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtggtgtcccatgctggGaagatactgttgatcccagt	8	11	12	10	0	0	2	0	1	0	1	2	3	2	3	3	2	2	2	3	2	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:234669017G>A	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Intron|UGT1A1_uc002vux.3_Intron|UGT1A1_uc010znb.1_Intron|UGT1A1_uc002vuy.3_Intron|UGT1A1_uc002vva.3_Intron|UGT1A1_uc010znc.1_Silent_p.G28G|UGT1A1_uc002vvb.3_Silent_p.G28G	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCATGCTGGGAAGATACTGT	0.617													A	234669017	G	A	234669017	2	1	158	1	0	0	0	0	0	0	0	1	17046	1161	41	2		2	UGT1A1	2	234669017	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	562185	234669017	8530356	15	10904											
PPP1R7	5510	broad.mit.edu	37	chr2	242105797	242105797	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagaacctggtgaacCtgcgggagctgtaccttagc	8	9	13	11	1	1	2	0	1	1	1	1	3	1	3	3	2	7	3	3	2	4	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr2:242105797C>G	uc002wat.1	+	7	769	c.760C>G	c.(760-762)Ctg>Gtg	p.L254V	PPP1R7_uc010fzm.1_Missense_Mutation_p.L238V|PPP1R7_uc002was.3_Missense_Mutation_p.L254V|PPP1R7_uc002wau.1_Missense_Mutation_p.L211V	NM_002712	NP_002703	Q15435	PP1R7_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 7 (PPP1R7), mRNA.	254						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCTGGTGAACCTGCGGGAGCT	0.552													G	242105797	C	G	242105797	3	3	158	1	0	0	0	0	1	0	0	0	12458	680	24	4	790	4	PPP1R7	2	242105797	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	7436780	242105797	1093576	16	10905											
CAND2	23066	broad.mit.edu	37	chr3	12856870	12856870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacagcccccgaagggaTggctggaggccatggaggaa	13	3	15	10	1	0	0	0	0	0	0	0	5	0	4	3	6	2	1	3	6	3	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:12856870T>A	uc003bxk.2	+	7	1286	c.1237T>A	c.(1237-1239)Tgg>Agg	p.W413R	CAND2_uc003bxj.2_Missense_Mutation_p.W320R	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	413					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CCCGAAGGGATGGCTGGAGGC	0.607													A	12856870	T	A	12856870	3	1	158	1	0	0	0	0	1	0	0	0	2642	1464	51	5	1267	5	CAND2	3	12856870	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		12856870	185165560	17	10906											
LRIG1	26018	broad.mit.edu	37	chr3	66455660	66455660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctgagaaggcgccgctCgtgtcctctattgtgcccga	6	9	12	14	4	1	1	0	1	1	1	3	3	2	1	4	1	2	1	4	1	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:66455660C>T	uc003dmx.3	-	8	1136	c.1122G>A	c.(1120-1122)acG>acA	p.T374T	LRIG1_uc011bfu.2_5'Flank|LRIG1_uc003dmw.3_Silent_p.T40T|LRIG1_uc010hnz.3_Silent_p.T114T|LRIG1_uc010hoa.3_Silent_p.T374T	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	374						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		AGGCGCCGCTCGTGTCCTCTA	0.612													T	66455660	C	T	66455660	2	4	158	1	0	0	0	0	0	0	0	1	9014	871	31	1		1	LRIG1	3	66455660	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	53598790	66455660	131566770	18	10907											
GPR15	2838	broad.mit.edu	37	chr3	98251885	98251885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgagacatcagatagtcaCctcactaaggctctctccac	12	9	6	14	0	4	2	3	1	1	2	6	3	5	2	2	1	0	1	2	1	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr3:98251885C>G	uc011bgy.2	+	0	1008	c.1008C>G	c.(1006-1008)caC>caG	p.H336Q		NM_005290	NP_005281	P49685	GPR15_HUMAN	Homo sapiens G protein-coupled receptor 15 (GPR15), mRNA.	336						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		CAGATAGTCACCTCACTAAGG	0.483													G	98251885	C	G	98251885	3	3	158	1	0	0	0	0	1	0	0	0	6709	506	18	4	1010	4	GPR15	3	98251885	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	31796225	98251885	99770545	19	10908											
PDLIM5	10611	broad.mit.edu	37	chr4	95575673	95575673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaattcaactgcgctcactGcaaaaatacaatggcctaca	16	8	6	11	1	2	1	2	0	0	1	2	1	2	1	1	1	5	2	1	1	7	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:95575673G>A	uc003hti.3	+	9	1497	c.1346G>A	c.(1345-1347)tGc>tAc	p.C449Y	PDLIM5_uc011cdx.1_Missense_Mutation_p.C346Y|PDLIM5_uc003htj.3_Missense_Mutation_p.C124Y|PDLIM5_uc003htk.3_Missense_Mutation_p.C478Y|PDLIM5_uc011cdy.2_Missense_Mutation_p.C327Y|PDLIM5_uc003hth.3_Missense_Mutation_p.C340Y|PDLIM5_uc003htl.3_Missense_Mutation_p.C124Y	NM_006457	NP_006448	Q96HC4	PDLI5_HUMAN	Homo sapiens PDZ and LIM domain 5 (PDLIM5), transcript variant 1, mRNA.	449	LIM zinc-binding 1.				regulation of dendritic spine morphogenesis|regulation of synaptogenesis	actin cytoskeleton|cell junction|cytosol|postsynaptic density|postsynaptic membrane|synaptosome	actin binding|actinin binding|protein kinase C binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		TGCGCTCACTGCAAAAATACA	0.448													A	95575673	G	A	95575673	3	1	158	1	0	0	0	0	1	0	0	0	11759	1319	46	2	1540	2	PDLIM5	4	95575673	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		95575673	95578603	20	10909											
ODZ3	55714	broad.mit.edu	37	chr4	183710311	183710311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagaaaagatctatgaCgaccaccgtaaatttctact	17	9	6	9	2	2	4	0	1	2	3	2	5	2	4	2	0	1	1	2	0	7	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr4:183710311C>T	uc003ivd.1	+	23	5445	c.5370C>T	c.(5368-5370)gaC>gaT	p.D1790D		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1790					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AGATCTATGACGACCACCGTA	0.448													T	183710311	C	T	183710311	2	4	158	1	0	0	0	0	0	0	0	1	10912	535	19	1		1	ODZ3	4	183710311	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	88134638	183710311	7443965	21	10910											
SLC12A7	10723	broad.mit.edu	37	chr5	1085433	1085433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcaggccaggaagaccagCgccagcttgttgacatactt	11	7	11	12	2	0	2	0	1	0	1	0	3	0	3	3	2	3	3	3	2	2	4	rs112522540		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:1085433C>T	uc003jbu.3	-	6	897	c.831G>A	c.(829-831)gcG>gcA	p.A277A		NM_006598	NP_006589	Q9Y666	S12A7_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 7 (SLC12A7), mRNA.	277					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)	GGAAGACCAGCGCCAGCTTGT	0.637													T	1085433	C	T	1085433	2	4	158	1	0	0	0	0	0	0	0	1	14482	755	27	1		1	SLC12A7	5	1085433	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08		1085433	179829827	22	10911											
JMY	133746	broad.mit.edu	37	chr5	78533329	78533329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaaatcgacactctgTgttaccagctccaggtctac	11	9	9	12	1	2	0	0	0	2	0	4	2	3	1	2	2	4	3	2	2	3	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:78533329T>C	uc003kfx.4	+	0	1405	c.856T>C	c.(856-858)Tgt>Cgt	p.C286R		NM_152405	NP_689618	Q8N9B5	JMY_HUMAN	Homo sapiens junction mediating and regulatory protein, p53 cofactor (JMY), mRNA.	286					'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CGACACTCTGTGTTACCAGCT	0.632													C	78533329	T	C	78533329	3	2	158	1	0	0	0	0	1	0	0	0	8015	1696	59	3	858	3	JMY	5	78533329	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	77447896	78533329	102381931	23	10912											
EGR1	1958	broad.mit.edu	37	chr5	137801566	137801568	+	In_Frame_Del	DEL	TGC	TGC	-																															ccctaagctggaggagatgaTgctgctgagcaacggggctc																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:137801566_137801568delTGC	uc003ldb.1	+	0	386_388	c.116_118delTGC	c.(115-120)atgctg>atg	p.L41del		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	41					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GAGGAGATGATGCTGCTGAGCAA	0.67													-	137801568	TGC	-	137801566	7	5	158	1	0	1	0	1	0	0	0	0	5010	1464	51	0	118	0	EGR1	5	137801566	In_Frame_Del	DEL	TGC	TCGA-19-2625-01A-01D-1495-08	59268237	137801566	43113694	24	10913											
MED7	9443	broad.mit.edu	37	chr5	156566183	156566183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaaggtccaagaaattaAtaaggatagacatattaagt	20	10	7	4	0	0	2	0	0	0	2	1	3	1	3	1	2	0	0	1	2	9	6			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:156566183A>G	uc010jik.3	-	1	652	c.260T>C	c.(259-261)aTt>aCt	p.I87T	MED7_uc003lwm.4_Missense_Mutation_p.I87T|MED7_uc021ygl.1_Missense_Mutation_p.I87T	NM_001100816	NP_004261	O43513	MED7_HUMAN	Homo sapiens mediator complex subunit 7 (MED7), transcript variant 1, mRNA.	87					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CAAGAAATTAATAAGGATAGA	0.378													G	156566183	A	G	156566183	3	3	158	1	0	0	0	0	1	0	0	0	9527	101	4	3	445	3	MED7	5	156566183	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	18764617	156566183	24349077	25	10914											
SQSTM1	8878	broad.mit.edu	37	chr5	179260112	179260114	+	In_Frame_Del	DEL	GAG	GAG	-																															ctccagagagttccagcacaGaggagaagagcagctcacag																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr5:179260112_179260114delGAG	uc003mkw.4	+	5	930_932	c.835_837delGAG	c.(835-837)gagdel	p.E280del	SQSTM1_uc011dgr.2_In_Frame_Del_p.E196del|SQSTM1_uc011dgs.2_In_Frame_Del_p.E196del|SQSTM1_uc003mkx.3_In_Frame_Del_p.E196del	NM_003900	NP_003891	Q13501	SQSTM_HUMAN	Homo sapiens sequestosome 1 (SQSTM1), transcript variant 1, mRNA.	280	Interaction with NTRK1 (By similarity).|Ser-rich.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCAGCACAGAGGAGAAGAGCA	0.596													-	179260114	GAG	-	179260112	7	5	158	1	0	1	0	1	0	0	0	0	15226	943	33	0	857	0	SQSTM1	5	179260112	In_Frame_Del	DEL	GAG	TCGA-19-2625-01A-01D-1495-08	22693929	179260112	1655148	26	10915											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217828	44217828	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagacagagtacctagaagaGaggcgggtcaaagaagtagt	16	5	14	6	1	1	5	1	0	0	5	1	6	1	5	1	2	1	2	1	2	6	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:44217828G>C	uc003oxa.1	+	4	669	c.585G>C	c.(583-585)gaG>gaC	p.E195D	HSP90AB1_uc011dvr.1_Missense_Mutation_p.E185D|HSP90AB1_uc003oxb.1_Missense_Mutation_p.E195D|HSP90AB1_uc011dvs.1_Missense_Mutation_p.E15D|HSP90AB1_uc003oxc.1_5'UTR	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	195					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ACCTAGAAGAGAGGCGGGTCA	0.428													C	44217828	G	C	44217828	3	2	158	1	0	0	0	0	1	0	0	0	7459	933	33	4	599	4	HSP90AB1	6	44217828	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		44217828	126897239	27	10916											
GSTA4	2941	broad.mit.edu	37	chr6	52850376	52850376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttgttggaacagcaggtGgttacctgagaatggaagcc	11	9	13	8	0	0	1	0	1	0	1	0	4	0	3	2	4	4	3	2	4	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:52850376G>A	uc003pbf.3	-	3	295	c.145C>T	c.(145-147)Cac>Tac	p.H49Y	GSTA4_uc003pbd.3_5'UTR	NM_001512	NP_001503	O15217	GSTA4_HUMAN	Homo sapiens glutathione S-transferase alpha 4 (GSTA4), mRNA.	49	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	AACAGCAGGTGGTTACCTGAG	0.458													A	52850376	G	A	52850376	3	1	158	1	0	0	0	0	1	0	0	0	6888	1348	47	2	539	2	GSTA4	6	52850376	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	8632548	52850376	118264691	28	10917											
PHF3	23469	broad.mit.edu	37	chr6	64416078	64416078	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctttgaggaggagaaacAggagtctccaaagtcaacgt	14	9	11	7	1	3	2	1	1	2	1	4	5	3	4	1	3	2	0	1	3	3	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:64416078A>T	uc003pep.1	+	10	3552	c.3527A>T	c.(3526-3528)cAg>cTg	p.Q1176L	PHF3_uc010kah.1_Missense_Mutation_p.Q990L|PHF3_uc003pen.2_Missense_Mutation_p.Q1088L|PHF3_uc011dxs.1_Missense_Mutation_p.Q445L	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1176					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAGGAGAAACAGGAGTCTCCA	0.378													T	64416078	A	T	64416078	3	4	158	1	0	0	0	0	1	0	0	0	11913	188	7	5	3569	5	PHF3	6	64416078	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	11565702	64416078	106698989	29	10918											
EZR	7430	broad.mit.edu	37	chr6	159210403	159210403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtaactcggacattgaTctgaaaaacagaatgaaaca	17	8	10	6	1	1	4	0	3	1	1	2	5	1	5	0	3	3	1	0	3	5	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:159210403T>C	uc003qrt.4	-	2	228	c.13_splice	c.e2-1	p.I5_splice	EZR_uc011efs.2_Splice_Site_p.I5_splice|EZR_uc003qru.4_Splice_Site_p.I5_splice	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	5	FERM.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		CGGACATTGATCTGAAAAACA	0.428			T	ROS1	NSCLC								C	159210403	T	C	159210403	3	2	158	1	0	0	0	0	1	0	0	0	5377	1449	50	3	1795	3	EZR	6	159210403	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	94794325	159210403	11904664	30	10919											
MLLT4	4301	broad.mit.edu	37	chr6	168343837	168343837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagataaactaggaatctAtgtgaagtcggttgtgaaag	15	11	11	4	1	2	3	1	2	1	1	3	4	2	4	0	2	1	1	0	2	8	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr6:168343837A>G	uc021zik.1	+	22	3303	c.2984A>G	c.(2983-2985)tAt>tGt	p.Y995C	MLLT4_uc003qwb.1_Missense_Mutation_p.Y1020C|MLLT4_uc003qwc.2_Missense_Mutation_p.Y1036C|MLLT4_uc021zij.1_Missense_Mutation_p.Y1020C|MLLT4_uc021zim.1_Missense_Mutation_p.Y582C|MLLT4_uc003qwg.1_Missense_Mutation_p.Y345C	NM_001040000	NP_001035089	P55196	AFAD_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (MLLT4), transcript variant 2, mRNA.	1036					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAGGAATCTATGTGAAGTCG	0.373			T	MLL	AL								G	168343837	A	G	168343837	3	3	158	1	0	0	0	0	1	0	0	0	9704	449	16	3	3197	3	MLLT4	6	168343837	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08	9133434	168343837	2771230	31	10920											
EGFR	1956	broad.mit.edu	37	chr7	55249002	55249003	+	In_Frame_Ins	INS	-	-	CAGCGTGGA																															caggaagcctacgtgatggcINScagcgtggacaacccccacg																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:55249002_55249003insCAGCGTGGA	uc003tqk.3	+	19	2546_2547	c.2300_2301insCAGCGTGGA	c.(2299-2301)gcc>gcCAGCGTGGAc	p.770_771insSVD	EGFR_uc022adm.1_In_Frame_Ins_p.770_771insSVD|EGFR_uc010kzg.2_In_Frame_Ins_p.725_726insSVD|EGFR_uc022adn.1_In_Frame_Ins_p.725_726insSVD|EGFR_uc011kco.2_In_Frame_Ins_p.717_718insSVD|AK123474_uc003tqo.3_Non-coding_Transcript|EGFR_uc022ado.1_In_Frame_Ins_p.5_6insSVD	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	770	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V769_D770insASV(26)|p.D770_N771insSVD(24)|p.D770_N771insG(8)|p.D770>GY(4)|p.V769M(4)|p.A767V(3)|p.V769L(3)|p.V769_D770insGVV(3)|p.D770N(2)|p.N771_P772insN(2)|p.N771_P772insH(2)|p.V769_D770insMASVD(2)|p.S768_V769insVAS(2)|p.N771_P772>SVDNR(2)|p.N771>TH(1)|p.N771>GT(1)|p.V769_D770insCV(1)|p.D770_N771insVDSVDNP(1)|p.D770_N771insGF(1)|p.D770_N771insGD(1)|p.D770_N771>AGG(1)|p.D770_N771insGL(1)|p.D770fs*61(1)|p.D770_P772>ASVDNR(1)|p.D770_N771insD(1)|p.V769_D770insGSV(1)|p.D770_N771insN(1)|p.V769_D770insDNV(1)|p.S768_V769>IL(1)|p.D770_N771insAPW(1)|p.D770_N771insSVP(1)|p.D770_N771insSVQ(1)|p.D770>GF(1)|p.(768_770)insRCD(1)|p.N771_P772insRH(1)|p.(V769)ins?(1)|p.N771>SH(1)|p.D770_N771insMATP(1)|p.D770_N771insDG(1)|p.S768_V769insAWT(1)|p.N771>GY(1)|p.S752_V769del(1)|p.N771>YG(1)|p.V769_D770insGRV(1)|p.D770_N771insNPH(1)|p.V769_D770insGV(1)|p.N771>GF(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGTGATGGCCAGCGTGGACA	0.649		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			CAGCGTGGA	55249003	-	CAGCGTGGA	55249002	7	5	158	1	0	1	1	0	0	0	0	0	5006	739	26	0	2642	0	EGFR	7	55249002	In_Frame_Ins	INS	-	TCGA-19-2625-01A-01D-1495-08		55249002	103889661	32	10921											
CYP3A7	1577	broad.mit.edu	37	chr7	99277452	99277452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggacagttactcacagaTagaggagcaccaggctgaca	13	8	11	9	0	1	3	1	1	0	2	1	5	1	5	1	3	2	3	1	3	2	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr7:99277452T>C	uc003urq.3	-	0	170	c.68A>G	c.(67-69)tAt>tGt	p.Y23C	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_5'UTR|CYP3A7_uc011kiy.2_5'UTR|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron|CYP3A7_uc003urt.3_Missense_Mutation_p.Y23C	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	23					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TACTCACAGATAGAGGAGCAC	0.488													C	99277452	T	C	99277452	3	2	158	1	0	0	0	0	1	0	0	0	4214	1406	49	3		3	CYP3A7	7	99277452	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	44028450	99277452	59861211	33	10922											
DOCK5	80005	broad.mit.edu	37	chr8	25232155	25232155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctacacgcttctcttgcaCgctgagcttctgcaggtgaa	7	11	10	13	2	2	2	0	2	2	0	3	2	2	2	1	1	4	5	1	1	2	4	rs138488512		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr8:25232155C>T	uc003xeg.3	+	36	3938	c.3801C>T	c.(3799-3801)caC>caT	p.H1267H	DOCK5_uc003xeh.1_Silent_p.H981H|DOCK5_uc003xek.3_Silent_p.H56H|DOCK5_uc003xei.3_Silent_p.H837H|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1267	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTCTCTTGCACGCTGAGCTTC	0.463													T	25232155	C	T	25232155	2	4	158	1	0	0	0	0	0	0	0	1	4729	535	19	1		1	DOCK5	8	25232155	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08		25232155	121131867	34	10923											
TBC1D2	55357	broad.mit.edu	37	chr9	101017509	101017509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagatcccctcctcagcGtccgccttacagtcaaacac	10	8	6	17	3	2	1	2	0	0	1	6	2	5	1	5	0	3	0	5	0	3	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr9:101017509G>C	uc011lvb.2	-	0	495	c.315C>G	c.(313-315)gaC>gaG	p.D105E	TBC1D2_uc004ayq.3_Missense_Mutation_p.D105E|TBC1D2_uc004ayr.3_5'UTR	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	105	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCCTCAGCGTCCGCCTTAC	0.537													C	101017509	G	C	101017509	3	2	158	1	0	0	0	0	1	0	0	0	15705	1136	40	4	2490	4	TBC1D2	9	101017509	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		101017509	40195922	35	10924											
ARMC4	55130	broad.mit.edu	37	chr10	28229643	28229643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctccacagggccagtGccccacagcgagccacttcc	8	5	10	18	1	0	0	0	0	0	0	2	1	2	0	6	1	5	2	6	1	0	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:28229643G>T	uc009xky.3	-	12	1933	c.1835C>A	c.(1834-1836)gCa>gAa	p.A612E	ARMC4_uc010qds.2_Missense_Mutation_p.A137E|ARMC4_uc010qdt.2_Missense_Mutation_p.A304E|ARMC4_uc001itz.3_Missense_Mutation_p.A612E|ARMC4_uc010qdu.1_Missense_Mutation_p.A304E	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	612							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CAGGGCCAGTGCCCCACAGCG	0.517													T	28229643	G	T	28229643	3	4	158	1	0	0	0	0	1	0	0	0	958	1319	46	4	1331	4	ARMC4	10	28229643	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08		28229643	107305104	36	10925											
PTEN	5728	broad.mit.edu	37	chr10	89685314	89685314	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattacaagatatacaatcTgtaagtatgttttcttattt	13	18	4	6	0	2	1	0	0	2	1	2	1	2	1	1	0	2	3	1	0	8	9	rs121909226		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr10:89685314T>A	uc001kfb.3	+	3	1241	c.209_splice	c.e3+1	p.L70_splice	PTEN_uc021pvw.1_Intron	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	70	Phosphatase tensin-type.		L -> P (in CD).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(2)|p.Y27fs*1(2)|p.L70P(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATATACAATCTGTAAGTATGT	0.279		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89685314	T	A	89685314	3	1	158	1	0	0	0	0	1	0	0	0	12823	1594	55	5	219	5	PTEN	10	89685314	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	61455671	89685314	45849433	37	10926											
CDHR5	53841	broad.mit.edu	37	chr11	618758	618758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctggggtctgtgctgTgcccccaccgggtgtggctg	1	11	16	13	1	2	0	0	0	2	0	2	0	2	0	4	4	3	2	4	4	0	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:618758T>C	uc001lql.3	-	12	2068	c.1801A>G	c.(1801-1803)Aca>Gca	p.T601A	IRF7_uc001lqh.3_5'Flank|IRF7_uc001lqi.3_5'Flank|IRF7_uc010qwh.2_5'Flank|CDHR5_uc001lqj.3_Missense_Mutation_p.T601A|CDHR5_uc009ycd.3_Missense_Mutation_p.T595A|CDHR5_uc001lqk.3_Intron|CDHR5_uc009ycc.3_Missense_Mutation_p.T435A	NM_021924	NP_068743	Q9HBB8	CDHR5_HUMAN	Homo sapiens cadherin-related family member 5 (CDHR5), transcript variant 1, mRNA.	601	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCTGTGCTGTGCCCCCACCG	0.667													C	618758	T	C	618758	3	2	158	1	0	0	0	0	1	0	0	0	3152	1696	59	3	748	3	CDHR5	11	618758	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		618758	134387758	38	10927											
CD3E	916	broad.mit.edu	37	chr11	118184559	118184559	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggccaagcctgtgacaCgaggagcgggtgctggcggc	8	4	17	12	3	0	1	0	1	0	0	0	3	0	2	3	5	3	1	3	5	2	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr11:118184559C>T	uc001psq.4	+	6	746	c.490C>T	c.(490-492)Cga>Tga	p.R164*		NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	164					G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCCTGTGACACGAGGAGCGGG	0.597													T	118184559	C	T	118184559	4	4	158	1	0	0	0	0	0	1	0	0	3041	528	19	1	512	1	CD3E	11	118184559	Nonsense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	117565801	118184559	16821957	39	10928											
ABCC9	10060	broad.mit.edu	37	chr12	22065805	22065805	+	Splice_Site	DEL	C	C	-																															tgaaaatcaccaggaacttaCtccagttgtgttatttgtcc																										TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:22065805delC	uc001rfh.3	-	6	1031	c.1011_splice	c.e6+1	p.G337_splice	ABCC9_uc001rfi.1_Splice_Site_p.G337_splice	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	337	ABC transmembrane type-1 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGAACTTACTCCAGTTGTG	0.353													-	22065805	C	-	22065805	8	5	158	1	0	1	0	1	0	0	1	0	59	579	20	0	3911	0	ABCC9	12	22065805	Splice_Site	DEL	C	TCGA-19-2625-01A-01D-1495-08		22065805	111786090	40	10929											
WNT10B	7480	broad.mit.edu	37	chr12	49361974	49361974	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtttggccctcagccGatcctgctcaccactgccct	6	9	8	18	1	2	0	2	0	0	0	3	1	3	0	5	1	4	3	5	1	0	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:49361974G>T	uc001rss.3	-	3	910	c.466C>A	c.(466-468)Cgg>Agg	p.R156R	WNT10B_uc001rst.3_Silent_p.R156R	NM_003394	NP_003385	O00744	WN10B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10B (WNT10B), mRNA.	156					axis specification|bone trabecula formation|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|chondrocyte differentiation|female gonad development|hemopoietic stem cell proliferation|midbrain-hindbrain boundary development|myoblast cell differentiation involved in skeletal muscle regeneration|negative regulation of epithelial cell proliferation|negative regulation of fat cell differentiation|neuron differentiation|positive regulation of anagen|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cell proliferation|positive regulation of epithelial cell differentiation|positive regulation of osteoblast differentiation|protein stabilization|regulation of skeletal muscle tissue development|skeletal muscle fiber development|smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity	p.R156Q(1)		central_nervous_system(1)|large_intestine(5)|lung(12)|prostate(1)|skin(4)	23						GCCCTCAGCCGATCCTGCTCA	0.667													T	49361974	G	T	49361974	2	4	158	1	0	0	0	0	0	0	0	1	17485	1057	37	4		4	WNT10B	12	49361974	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	27296169	49361974	84489921	41	10930											
EP400	57634	broad.mit.edu	37	chr12	132471269	132471269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggggtggtggcatctgccCccaccaaaccacagagtcct	9	6	11	15	0	1	1	0	0	1	1	2	1	2	1	5	4	2	1	5	4	1	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr12:132471269C>A	uc001ujn.3	+	5	2292	c.2140C>A	c.(2140-2142)Ccc>Acc	p.P714T	EP400_uc021rgq.1_Missense_Mutation_p.P713T|EP400_uc001ujm.3_Missense_Mutation_p.P714T|EP400_uc001ujj.2_Missense_Mutation_p.P677T|EP400_uc001ujk.3_Missense_Mutation_p.P750T	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	750					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		GGCATCTGCCCCCACCAAACC	0.532													A	132471269	C	A	132471269	3	1	158	1	0	0	0	0	1	0	0	0	5190	623	22	4	2155	4	EP400	12	132471269	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	83109295	132471269	1380626	42	10931											
RB1	5925	broad.mit.edu	37	chr13	48919325	48919332	+	Frame_Shift_Del	DEL	AAATTGGA	AAATTGGA	-																															tattgtttgcactcttcagcAaattggaaaggtaaagtaaa																								rs66624868		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr13:48919325_48919332delAAATTGGA	uc001vcb.3	+	3	656_663	c.490_497delAAATTGGA	c.(490-498)aaattggaafs	p.K164fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	164					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E166*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACTCTTCAGCAAATTGGAAAGGTAAAGT	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48919332	AAATTGGA	-	48919325	7	5	158	1	0	1	0	1	0	0	0	0	13186	131	5	0	504	0	RB1	13	48919325	Frame_Shift_Del	DEL	AAATTGGA	TCGA-19-2625-01A-01D-1495-08		48919325	66250553	43	10932											
KIAA0317	9870	broad.mit.edu	37	chr14	75149998	75149998	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaaggaaaaaagaacctaCcaggttgaaaaattttgtag	20	8	9	4	0	0	3	0	1	0	2	0	4	0	4	2	2	2	2	2	2	9	5			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr14:75149998C>T	uc001xqb.3	-	5	986	c.481_splice	c.e5+1	p.G161_splice	KIAA0317_uc010tut.1_Splice_Site	NM_001039479	NP_001034568	O15033	K0317_HUMAN	Homo sapiens KIAA0317 (KIAA0317), mRNA.	161					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|intracellular	ubiquitin-protein ligase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.00404)		aaagaaCCTACCAGGTTGAAA	0.388													T	75149998	C	T	75149998	5	4	158	1	0	0	0	0	0	0	1	0	8225	521	18	2	2053	2	KIAA0317	14	75149998	Splice_Site	SNP	C	TCGA-19-2625-01A-01D-1495-08		75149998	32199542	44	10933											
PGP	283871	broad.mit.edu	37	chr16	2263929	2263929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggtctcccaccatgaCggtgcgctcggggttgatgc	5	8	15	13	4	1	2	0	2	1	0	3	2	1	2	2	5	2	2	2	5	0	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:2263929C>A	uc002cpk.1	-	1	810	c.766G>T	c.(766-768)Gtc>Ttc	p.V256F	C16orf79_uc002cpi.2_5'Flank|C16orf79_uc010bsh.3_5'Flank	NM_001042371	NP_001035830	A6NDG6	PGP_HUMAN	Homo sapiens phosphoglycolate phosphatase (PGP), mRNA.	256					carbohydrate metabolic process		phosphoglycolate phosphatase activity			skin(1)	1						CCCACCATGACGGTGCGCTCG	0.632													A	2263929	C	A	2263929	3	1	158	1	0	0	0	0	1	0	0	0	11879	536	19	4	203	4	PGP	16	2263929	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		2263929	88090824	45	10934											
CDH5	1003	broad.mit.edu	37	chr16	66426078	66426078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaatacagcttcatcGtcgaggccacagaccccacc	11	6	7	17	2	1	1	1	0	0	1	4	2	2	1	5	1	3	2	5	1	2	2	rs147523967		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:66426078G>A	uc002eom.4	+	6	1165	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	CDH5_uc002eon.1_Missense_Mutation_p.V337I	NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	337	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CAGCTTCATCGTCGAGGCCAC	0.547													A	66426078	G	A	66426078	3	1	158	1	0	0	0	0	1	0	0	0	3143	1145	40	1	1031	1	CDH5	16	66426078	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	64162149	66426078	23928675	46	10935											
PMFBP1	83449	broad.mit.edu	37	chr16	72153835	72153835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttccagcccaaggtgccGcacactttctccctctgtgt	5	11	7	18	1	2	0	0	0	2	0	4	0	3	0	5	1	2	1	5	1	1	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:72153835G>A	uc002fcc.4	-	19	3109	c.2937C>T	c.(2935-2937)tgC>tgT	p.C979C	PMFBP1_uc002fcd.3_Silent_p.C974C|PMFBP1_uc002fce.3_Non-coding_Transcript|PMFBP1_uc002fcf.3_Silent_p.C849C	NM_031293	NP_112583	Q8TBY8	PMFBP_HUMAN	Homo sapiens polyamine modulated factor 1 binding protein 1 (PMFBP1), transcript variant 1, mRNA.	979										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				CCAAGGTGCCGCACACTTTCT	0.557													A	72153835	G	A	72153835	2	1	158	1	0	0	0	0	0	0	0	1	12211	1079	38	1		1	PMFBP1	16	72153835	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	5727757	72153835	18200918	47	10936											
KARS	3735	broad.mit.edu	37	chr16	75669879	75669879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcagtgtgatctcataCggaatgatgctcagctcacc	11	9	10	11	1	3	2	3	2	1	0	4	4	3	3	1	1	4	3	1	1	2	1	rs143003475		TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr16:75669879C>T	uc002feq.3	-	4	648	c.600G>A	c.(598-600)ccG>ccA	p.P200P	KARS_uc002fer.3_Silent_p.P228P|KARS_uc010cgz.3_Silent_p.P44P	NM_005548	NP_005539	Q15046	SYK_HUMAN	Homo sapiens lysyl-tRNA synthetase (KARS), transcript variant 2, mRNA.	200					interspecies interaction between organisms|lysyl-tRNA aminoacylation|tRNA processing	cytosol|extracellular region|mitochondrial matrix|nucleus|plasma membrane|soluble fraction	ATP binding|lysine-tRNA ligase activity|metal ion binding|tRNA binding			kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	18					L-Lysine(DB00123)	TGATCTCATACGGAATGATGC	0.448													T	75669879	C	T	75669879	2	4	158	1	0	0	0	0	0	0	0	1	8038	523	19	1		1	KARS	16	75669879	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	3516044	75669879	14684874	48	10937											
OR1G1	8390	broad.mit.edu	37	chr17	3030338	3030338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgggatctcatggtttgCgcagaaggacaggctgttca	8	11	15	7	1	2	1	2	0	1	1	3	3	2	3	0	4	1	4	0	4	1	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:3030338C>T	uc002fvc.1	-	0	508	c.508G>A	c.(508-510)Gca>Aca	p.A170T		NM_003555	NP_003546	P47890	OR1G1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily G, member 1 (OR1G1), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						TCATGGTTTGCGCAGAAGGAC	0.532													T	3030338	C	T	3030338	3	4	158	1	0	0	0	0	1	0	0	0	11033	768	27	1	437	1	OR1G1	17	3030338	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		3030338	78164872	49	10938											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7577568C>T	uc002gim.2	-	6	907	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_uc002gig.1_Missense_Mutation_p.C238Y|TP53_uc002gih.3_Missense_Mutation_p.C238Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106Y|TP53_uc010cnf.1_Missense_Mutation_p.C106Y|TP53_uc002gii.1_Missense_Mutation_p.C106Y|TP53_uc010cni.1_Missense_Mutation_p.C238Y|TP53_uc010cnh.1_Missense_Mutation_p.C238Y|TP53_uc002gij.2_Missense_Mutation_p.C238Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145Y|TP53_uc002gio.2_Missense_Mutation_p.C106Y|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			T	7577568	C	T	7577568	3	4	158	1	0	0	0	0	1	0	0	0	16482	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	4547230	7577568	73617642	50	10939											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	12	13	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:7578235T>C	uc002gim.2	-	5	808	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	TP53_uc002gig.1_Missense_Mutation_p.Y205C|TP53_uc002gih.3_Missense_Mutation_p.Y205C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y73C|TP53_uc010cnf.1_Missense_Mutation_p.Y73C|TP53_uc002gii.1_Missense_Mutation_p.Y73C|TP53_uc010cni.1_Missense_Mutation_p.Y205C|TP53_uc010cnh.1_Missense_Mutation_p.Y205C|TP53_uc002gij.2_Missense_Mutation_p.Y205C|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.Y112C|TP53_uc002gio.2_Missense_Mutation_p.Y73C|TP53_uc010vug.2_Missense_Mutation_p.Y166C|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(127)|p.E204*(27)|p.Y205S(26)|p.Y205F(16)|p.Y205D(14)|p.Y205H(8)|p.0?(8)|p.Y73C(5)|p.?(5)|p.Y112C(5)|p.Y205N(4)|p.Y205*(4)|p.E204fs*5(3)|p.E204fs*43(3)|p.E204fs*39(2)|p.E204_N210delEYLDDRN(2)|p.E204K(2)|p.E204G(2)|p.E204D(2)|p.E204E(2)|p.K164_P219del(1)|p.Y205fs*42(1)|p.E204fs*4(1)|p.Y73S(1)|p.V203_E204>V*(1)|p.Y112S(1)|p.Y205fs*43(1)|p.V203_E204>LV(1)|p.E204A(1)|p.E204V(1)|p.E204Q(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)		GTCATCCAAATACTCCACACG	0.542		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)			C	7578235	T	C	7578235	3	2	158	1	0	0	0	0	1	0	0	0	16482	1406	49	3	680	3	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	667	7578235	73616975	51	10940											
MYH2	4620	broad.mit.edu	37	chr17	10432765	10432765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctttctaggtccatgcGaagtttcttttcttgctcca	6	16	7	12	1	3	0	0	0	3	0	5	1	5	0	3	1	3	2	3	1	2	6			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr17:10432765G>A	uc010coi.3	-	24	3279	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1051C|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1051					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1051C(2)|p.R1051H(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCATGCGAAGTTTCTTT	0.383													A	10432765	G	A	10432765	3	1	158	1	0	0	0	0	1	0	0	0	10111	1058	37	1	2738	1	MYH2	17	10432765	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	2854530	10432765	70762445	52	10941											
MUC16	94025	broad.mit.edu	37	chr19	9068025	9068025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgagtcatagctgagTgggtccctgcctgtgaggtt	7	12	13	9	0	1	3	1	3	0	0	3	3	3	3	3	2	2	2	3	2	1	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:9068025T>C	uc002mkp.3	-	2	19625	c.19421A>G	c.(19420-19422)cAc>cGc	p.H6474R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6476	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						CATAGCTGAGTGGGTCCCTGC	0.488													C	9068025	T	C	9068025	3	2	158	1	0	0	0	0	1	0	0	0	10049	1696	59	3	24430	3	MUC16	19	9068025	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		9068025	50060958	53	10942											
LDLR	3949	broad.mit.edu	37	chr19	11224247	11224247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacggcgtctcttcctaTgacaccgtcatcagcagaga	9	8	9	15	3	3	2	2	1	1	1	5	3	4	2	3	1	1	1	3	1	1	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:11224247T>C	uc002mqk.4	+	9	1582	c.1395T>C	c.(1393-1395)taT>taC	p.Y465Y	LDLR_uc010xlk.2_Silent_p.Y465Y|LDLR_uc010xll.2_Silent_p.Y424Y|LDLR_uc021upc.1_Silent_p.Y344Y|LDLR_uc010xln.2_Silent_p.Y338Y|LDLR_uc010xlo.2_Silent_p.Y297Y|LDLR_uc010xlm.2_Silent_p.Y318Y|LDLR_uc021upd.1_Silent_p.Y202Y	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	465					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	TCTCTTCCTATGACACCGTCA	0.622													C	11224247	T	C	11224247	2	2	158	1	0	0	0	0	0	0	0	1	8763	1471	51	3		3	LDLR	19	11224247	Silent	SNP	T	TCGA-19-2625-01A-01D-1495-08	2156222	11224247	47904736	54	10943											
PRPF31	26121	broad.mit.edu	37	chr19	54621969	54621969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttgctgagattatgaTgaagattgaggagtatatca	14	13	11	3	0	1	5	1	4	0	2	1	7	1	6	0	1	1	3	0	1	4	5	rs145505952	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr19:54621969T>C	uc002qdh.2	+	2	590	c.194T>C	c.(193-195)aTg>aCg	p.M65T	TFPT_uc010yej.1_5'Flank|TFPT_uc010erd.2_5'Flank|PRPF31_uc010yek.1_Missense_Mutation_p.M65T|PRPF31_uc021vbi.1_Missense_Mutation_p.M65T	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	65					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GAGATTATGATGAAGATTGAG	0.502													C	54621969	T	C	54621969	3	2	158	1	0	0	0	0	1	0	0	0	12652	1464	51	3	200	3	PRPF31	19	54621969	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	43397722	54621969	4507014	55	10944											
C20orf72	92667	broad.mit.edu	37	chr20	17950509	17950509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacaaatctgaatgaagAtgaagttatttcagaccatt	18	11	7	5	0	2	5	1	3	1	2	2	6	2	5	1	0	1	1	1	0	7	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:17950509A>G	uc002wqh.3	+	1	89	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	C20orf72_uc010gco.3_Non-coding_Transcript|C20orf72_uc010gcp.3_5'Flank|SNX5_uc002wqc.3_5'Flank|SNX5_uc002wqd.3_5'Flank|SNX5_uc002wqe.3_5'Flank|SNX5_uc010zrt.1_5'Flank|AK296947_uc021way.1_5'Flank	NM_052865	NP_443097	Q9BQP7	CT072_HUMAN	Homo sapiens chromosome 20 open reading frame 72 (C20orf72), mRNA.	3										breast(1)|large_intestine(2)|lung(2)|urinary_tract(2)	7						CTGAATGAAGATGAAGTTATT	0.408													G	17950509	A	G	17950509	3	3	158	1	0	0	0	0	1	0	0	0	2139	333	12	3	9	3	C20orf72	20	17950509	Missense_Mutation	SNP	A	TCGA-19-2625-01A-01D-1495-08		17950509	45075011	56	10945											
WFDC8	90199	broad.mit.edu	37	chr20	44184401	44184401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgttggcattcccttcGcagcccctgtatttgaaggg	7	13	11	10	1	0	1	0	1	0	0	2	1	1	1	3	2	1	5	3	2	3	6	rs150100809	byFrequency	TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:44184401G>A	uc002xow.3	-	3	463	c.384C>T	c.(382-384)tgC>tgT	p.C128C	WFDC8_uc002xox.3_Silent_p.C128C	NM_181510	NP_852611	Q8IUA0	WFDC8_HUMAN	Homo sapiens WAP four-disulfide core domain 8 (WFDC8), transcript variant b, mRNA.	128	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CATTCCCTTCGCAGCCCCTGT	0.468													A	44184401	G	A	44184401	2	1	158	1	0	0	0	0	0	0	0	1	17458	1079	38	1		1	WFDC8	20	44184401	Silent	SNP	G	TCGA-19-2625-01A-01D-1495-08	26233892	44184401	18841119	57	10946											
MC3R	4159	broad.mit.edu	37	chr20	54824279	54824279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgactccatgatctgcatctCcctggtggcctccatctgca	6	11	8	16	1	3	1	0	1	3	0	6	2	5	1	4	2	2	2	4	2	0	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr20:54824279C>T	uc002xxb.2	+	0	492	c.380C>T	c.(379-381)tCc>tTc	p.S127F		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	164					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTGCATCTCCCTGGTGGCC	0.557													T	54824279	C	T	54824279	3	4	158	1	0	0	0	0	1	0	0	0	9440	855	30	2	382	2	MC3R	20	54824279	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	10639878	54824279	8201241	58	10947											
KRTAP24-1	643803	broad.mit.edu	37	chr21	31654689	31654689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatataacataatggtgagaCgtagctgggtatgaagcaag	16	9	12	4	1	0	2	0	2	0	1	0	3	0	2	0	2	3	4	0	2	8	5			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:31654689C>T	uc002ynv.3	-	0	588	c.562G>A	c.(562-564)Gtc>Atc	p.V188I		NM_001085455	NP_001078924	Q3LI83	KR241_HUMAN	Homo sapiens keratin associated protein 24-1 (KRTAP24-1), mRNA.	188						keratin filament	structural molecule activity	p.V188V(1)		breast(1)|large_intestine(3)|lung(7)|urinary_tract(3)	14						AATGGTGAGACGTAGCTGGGT	0.418													T	31654689	C	T	31654689	3	4	158	1	0	0	0	0	1	0	0	0	8601	536	19	1	206	1	KRTAP24-1	21	31654689	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		31654689	16475206	59	10948											
PRDM15	63977	broad.mit.edu	37	chr21	43281674	43281674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccccaactgtgcgcaccgGcatgtccttcctgcaacctg	7	9	8	17	2	0	0	0	0	0	0	3	0	3	0	6	1	4	3	6	1	2	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:43281674G>A	uc002yzq.1	-	6	1000	c.889C>T	c.(889-891)Ccg>Tcg	p.P297S	PRDM15_uc002yzo.3_Intron|PRDM15_uc002yzp.3_Intron|PRDM15_uc002yzr.1_Intron	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GTGCGCACCGGCATGTCCTTC	0.532													A	43281674	G	A	43281674	3	1	158	1	0	0	0	0	1	0	0	0	12542	1203	42	2	3734	2	PRDM15	21	43281674	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	11626985	43281674	4848221	60	10949											
COL6A2	1292	broad.mit.edu	37	chr21	47546138	47546138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcgatgacatggaggaCgtcctctgcccgggtgagcg	7	9	14	11	4	2	2	1	2	1	0	4	5	3	4	2	3	2	0	2	3	0	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr21:47546138C>T	uc002zia.1	+	25	2491	c.2409C>T	c.(2407-2409)gaC>gaT	p.D803D	COL6A2_uc002zhz.1_Silent_p.D803D|COL6A2_uc002zhy.1_Silent_p.D803D|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	803	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		ACATGGAGGACGTCCTCTGCC	0.647													T	47546138	C	T	47546138	2	4	158	1	0	0	0	0	0	0	0	1	3731	535	19	1		1	COL6A2	21	47546138	Silent	SNP	C	TCGA-19-2625-01A-01D-1495-08	4264464	47546138	583757	61	10950											
RIMBP3	85376	broad.mit.edu	37	chr22	20458331	20458331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgggagccatacggagcaCccctttggtccccagaaggg	9	6	13	13	1	0	1	0	0	0	1	1	3	1	3	5	4	3	1	5	4	2	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:20458331C>G	uc002zsd.4	-	0	3456	c.2971G>C	c.(2971-2973)Gtg>Ctg	p.V991L	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			ATACGGAGCACCCCTTTGGTC	0.602													G	20458331	C	G	20458331	3	3	158	1	0	0	0	0	1	0	0	0	13453	507	18	4	1952	4	RIMBP3	22	20458331	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08		20458331	30846235	62	10951											
PISD	23761	broad.mit.edu	37	chr22	32017352	32017352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtcctctgtgcacataCgcgggcccaggaacgactcc	8	6	12	15	3	1	0	0	0	1	0	3	2	3	1	3	3	3	2	3	3	2	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chr22:32017352C>T	uc003alm.4	-	4	723	c.665G>A	c.(664-666)cGt>cAt	p.R222H	PISD_uc003alk.2_Missense_Mutation_p.R188H|PISD_uc011alr.1_Missense_Mutation_p.R188H	NM_014338	NP_055153	Q9UG56	PISD_HUMAN	Homo sapiens phosphatidylserine decarboxylase (PISD), mRNA.	222					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	TGTGCACATACGCGGGCCCAG	0.627											OREG0003530	type=REGULATORY REGION|Gene=PISD|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	32017352	C	T	32017352	3	4	158	1	0	0	0	0	1	0	0	0	12023	536	19	1	580	1	PISD	22	32017352	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	11559021	32017352	19287214	63	10952											
PLCXD1	55344	broad.mit.edu	37	chrX	215977	215977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagtgacgtcatcgcgcTcaatcagaagctgctgtggt	8	10	12	11	4	4	2	4	1	0	1	5	2	4	2	0	1	2	3	0	1	2	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:215977T>C	uc004cpc.3	+	6	1259	c.947T>C	c.(946-948)cTc>cCc	p.L316P	PLCXD1_uc011mgx.2_Non-coding_Transcript	NM_018390	NP_060860	Q9NUJ7	PLCX1_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 1 (PLCXD1), transcript variant 1, mRNA.	316					intracellular signal transduction|lipid metabolic process		phospholipase C activity	p.L316L(1)		endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GTCATCGCGCTCAATCAGAAG	0.602													C	215977	T	C	215977	3	2	158	1	0	0	0	0	1	0	0	0	12118	1551	54	3	969	3	PLCXD1	23	215977	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08		215977	155054583	64	10953											
WWC3	55841	broad.mit.edu	37	chrX	10096087	10096087	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgagatgcagctgcgctgGcattccgtgcaggtgttcac	7	10	14	10	2	1	1	1	1	0	1	2	2	2	1	1	2	4	6	1	2	0	2			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:10096087G>A	uc004csx.4	+	15	2364	c.2166G>A	c.(2164-2166)tgG>tgA	p.W722*	WWC3_uc010nds.3_Nonsense_Mutation_p.W386*|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	722										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						AGCTGCGCTGGCATTCCGTGC	0.562													A	10096087	G	A	10096087	4	1	158	1	0	0	0	0	0	1	0	0	17515	1212	42	2	2224	2	WWC3	23	10096087	Nonsense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	9880110	10096087	145174473	65	10954											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	8	6	12	15	1	1	1	1	0	0	1	2	2	1	2	5	4	1	1	5	4	1	0			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:19369427G>A	uc004czg.4	+	3	465	c.320G>A	c.(319-321)gGc>gAc	p.G107D	PDHA1_uc004czh.4_Missense_Mutation_p.G145D|PDHA1_uc011mjc.2_Missense_Mutation_p.G114D|PDHA1_uc011mjd.2_Missense_Mutation_p.G107D	NM_000284	NP_000275	P08559	ODPA_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 1 (PDHA1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													A	19369427	G	A	19369427	3	1	158	1	0	0	0	0	1	0	0	0	11740	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	9273340	19369427	135901133	66	10955											
CCNB3	85417	broad.mit.edu	37	chrX	50051674	50051674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacccactattgaggatGaaacccttatcaataagtca	16	9	7	9	0	2	2	2	2	0	0	2	4	2	4	2	2	2	0	2	2	6	4			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:50051674G>A	uc004dox.4	+	5	803	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	CCNB3_uc004doy.3_Missense_Mutation_p.E169K|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	169					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TATTGAGGATGAAACCCTTAT	0.433													A	50051674	G	A	50051674	3	1	158	1	0	0	0	0	1	0	0	0	2944	1291	45	2	519	2	CCNB3	23	50051674	Missense_Mutation	SNP	G	TCGA-19-2625-01A-01D-1495-08	30682247	50051674	105218886	67	10956											
TBX22	50945	broad.mit.edu	37	chrX	79281244	79281244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctttgatcgcatgaaaCtcaccaacaatgagatggat	14	10	8	9	1	2	3	2	3	0	1	3	5	2	4	1	1	3	2	1	1	3	1			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:79281244C>G	uc010nmg.1	+	4	735	c.601C>G	c.(601-603)Ctc>Gtc	p.L201V	TBX22_uc004edi.1_Missense_Mutation_p.L81V|TBX22_uc004edj.1_Missense_Mutation_p.L201V	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	201					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.L201I(2)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TCGCATGAAACTCACCAACAA	0.537													G	79281244	C	G	79281244	3	3	158	1	0	0	0	0	1	0	0	0	15758	565	20	4	615	4	TBX22	23	79281244	Missense_Mutation	SNP	C	TCGA-19-2625-01A-01D-1495-08	29229570	79281244	75989316	68	10957											
ATP11C	286410	broad.mit.edu	37	chrX	138897124	138897124	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcattgtcagctctgtgTctcagacaatcctcatatcc	9	14	5	13	0	5	1	4	0	2	1	8	1	7	1	2	0	1	1	2	0	2	3			TCGA-19-2625-01A-01D-1495-08	TCGA-19-2625-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0833912-0cb6-4d2a-bd18-9fc211793b30	4445ea84-ab2f-4906-8ec0-47d0bd5ee63a	g.chrX:138897124T>A	uc004faz.3	-	4	447	c.348A>T	c.(346-348)agA>agT	p.R116S	ATP11C_uc004fba.3_Missense_Mutation_p.R116S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	116					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CAGCTCTGTGTCTCAGACAAT	0.303													A	138897124	T	A	138897124	3	1	158	1	0	0	0	0	1	0	0	0	1126	1664	58	5	3217	5	ATP11C	23	138897124	Missense_Mutation	SNP	T	TCGA-19-2625-01A-01D-1495-08	59615880	138897124	16373436	69	10958											
DNAJB4	11080	broad.mit.edu	37	chr1	78470832	78470832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcattttgggaattgagaAaggagcttcagatgaagata	14	12	12	3	0	1	4	1	2	0	3	1	7	1	6	0	2	2	2	0	2	4	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:78470832A>G	uc001dij.3	+	0	197	c.38A>G	c.(37-39)aAa>aGa	p.K13R	DNAJB4_uc010orn.2_Intron	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	13	J.				protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGAATTGAGAAAGGAGCTTCA	0.368													G	78470832	A	G	78470832	3	3	159	1	0	0	0	0	1	0	0	0	4661	14	1	3	40	3	DNAJB4	1	78470832	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08		78470832	170779789	1	10959											
ODF2L	57489	broad.mit.edu	37	chr1	86822223	86822223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaagcctccgttccgcCgccgtcaaggaatcgcagac	8	7	11	15	6	1	2	1	1	0	1	5	3	3	3	5	1	1	2	5	1	3	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:86822223C>T	uc001dll.2	-	13	1784	c.1422G>A	c.(1420-1422)gcG>gcA	p.A474A	ODF2L_uc001dlp.3_Intron|ODF2L_uc010osg.2_Intron|ODF2L_uc001dlm.2_Silent_p.A445A	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	474						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TCCGTTCCGCCGCCGTCAAGG	0.547													T	86822223	C	T	86822223	2	4	159	1	0	0	0	0	0	0	0	1	10904	639	23	1		1	ODF2L	1	86822223	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	8351391	86822223	162428398	2	10960											
ZNF644	84146	broad.mit.edu	37	chr1	91403294	91403296	+	In_Frame_Del	DEL	CTT	CTT	-																															ttcatttaagaaattcagccCttcttcttctgatgcagaca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:91403294_91403296delCTT	uc001dnw.3	-	3	3717_3719	c.3434_3436delAAG	c.(3433-3438)gaaggg>ggg	p.E1145del	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	1145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E1144K(1)		breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AAATTCAGCCCTTCTTCTTCTGA	0.365													-	91403296	CTT	-	91403294	7	5	159	1	0	1	0	1	0	0	0	0	18161	681	24	0	559	0	ZNF644	1	91403294	In_Frame_Del	DEL	CTT	TCGA-19-2629-01A-01D-1495-08	4581071	91403294	157847327	3	10961											
TMED5	50999	broad.mit.edu	37	chr1	93620253	93620256	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															tctacttttcctcttatcttCaaacagactcttcagcatat																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:93620253_93620256delCAAA	uc001dpn.3	-	3	1108_1111	c.661_664delTTTG	c.(661-666)tttgaafs	p.F221fs	TMED5_uc001dpp.3_Non-coding_Transcript|TMED5_uc001dpo.3_3'UTR	NM_016040	NP_057124	Q9Y3A6	TMED5_HUMAN	Homo sapiens transmembrane emp24 protein transport domain containing 5 (TMED5), transcript variant 1, mRNA.	221					transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		CTCTTATCTTCAAACAGACTCTTC	0.348													-	93620256	CAAA	-	93620253	7	5	159	1	0	1	0	1	0	0	0	0	16107	835	29	0	29	0	TMED5	1	93620253	Frame_Shift_Del	DEL	CAAA	TCGA-19-2629-01A-01D-1495-08	2216959	93620253	155630368	4	10962											
SSR2	6746	broad.mit.edu	37	chr1	155989853	155989853	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtcaggtctcgtccctCcacggcgtatctgttcagca	7	10	10	14	3	4	0	2	0	2	0	7	0	6	0	2	3	1	3	2	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:155989853C>A	uc001fmx.3	-	1	186	c.106G>T	c.(106-108)Gag>Tag	p.E36*	SSR2_uc010pgw.2_Nonsense_Mutation_p.E55*	NM_003145	NP_003136	P43308	SSRB_HUMAN	Homo sapiens signal sequence receptor, beta (translocon-associated protein beta) (SSR2), mRNA.	36					cotranslational protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	signal sequence binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|stomach(1)	10	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCTCGTCCCTCCACGGCGTAT	0.483													A	155989853	C	A	155989853	4	1	159	1	0	0	0	0	0	1	0	0	15287	864	30	4	465	4	SSR2	1	155989853	Nonsense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	62369600	155989853	93260768	5	10963											
OR6K2	81448	broad.mit.edu	37	chr1	158670186	158670186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaatgctcctctcactaAgcaggctagacagcatcttt	12	10	8	11	0	2	1	1	0	2	1	4	2	3	2	1	2	3	4	1	2	3	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:158670186A>G	uc001fsu.1	-	0	257	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001005279	NP_001005279	Q8NGY2	OR6K2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily K, member 2 (OR6K2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					CCTCTCACTAAGCAGGCTAGA	0.458													G	158670186	A	G	158670186	3	3	159	1	0	0	0	0	1	0	0	0	11278	72	3	3	721	3	OR6K2	1	158670186	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	2680333	158670186	90580435	6	10964											
NDUFS2	4720	broad.mit.edu	37	chr1	161182256	161182256	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagtgtctccacctaagCgagcagagatgaaggttggc	12	7	12	10	1	1	2	0	1	1	1	2	4	1	2	3	2	2	2	3	2	3	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:161182256C>T	uc001fyv.3	+	10	1550	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	NDUFS2_uc001fyw.3_Nonsense_Mutation_p.R368*|NDUFS2_uc010pkj.2_Nonsense_Mutation_p.R317*|FCER1G_uc001fyz.1_5'Flank|FCER1G_uc001fza.1_5'Flank	NM_004550	NP_004541	O75306	NDUS2_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase) (NDUFS2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	368					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TCCACCTAAGCGAGCAGAGAT	0.527													T	161182256	C	T	161182256	4	4	159	1	0	0	0	0	0	1	0	0	10368	760	27	1	1140	1	NDUFS2	1	161182256	Nonsense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	2512070	161182256	88068365	7	10965											
NOS1AP	9722	broad.mit.edu	37	chr1	162257211	162257213	+	In_Frame_Del	DEL	GAA	GAA	-																															gatggagtgaaagtgattctGaagaagaagaaaaaggtaag																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:162257211_162257213delGAA	uc001gbv.2	+	2	642_644	c.255_257delGAA	c.(253-258)ctgaag>ctg	p.K90del	NOS1AP_uc010pkr.1_In_Frame_Del_p.K92del|NOS1AP_uc001gbw.2_In_Frame_Del_p.K92del|NOS1AP_uc010pks.1_Non-coding_Transcript	NM_014697	NP_055512	O75052	CAPON_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) adaptor protein (NOS1AP), transcript variant 1, mRNA.	90	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGTGATTCTGAAGAAGAAGAAA	0.433													-	162257213	GAA	-	162257211	7	5	159	1	0	1	0	1	0	0	0	0	10618	1277	45	0	265	0	NOS1AP	1	162257211	In_Frame_Del	DEL	GAA	TCGA-19-2629-01A-01D-1495-08	1074955	162257211	86993410	8	10966											
TNNT2	7139	broad.mit.edu	37	chr1	201331099	201331101	+	In_Frame_Del	DEL	TCT	TCT	-																															cttcctcctctcagccagaaTcttcttcttcttttcccgct																								rs121964859		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr1:201331099_201331101delTCT	uc001gwf.3	-	12	719_721	c.650_652delAGA	c.(649-654)aagatt>att	p.K217del	TNNT2_uc009wzn.3_5'Flank|TNNT2_uc009wzo.3_5'Flank|TNNT2_uc009wzp.3_Non-coding_Transcript|TNNT2_uc021phc.1_In_Frame_Del_p.K210del|TNNT2_uc001gwg.3_In_Frame_Del_p.K207del|TNNT2_uc001gwh.3_In_Frame_Del_p.K198del|TNNT2_uc001gwi.3_In_Frame_Del_p.K177del|TNNT2_uc009wzr.3_In_Frame_Del_p.K148del	NM_000364	NP_000355	P45379	TNNT2_HUMAN	Homo sapiens troponin T type 2 (cardiac) (TNNT2), transcript variant 1, mRNA.	220					ATP catabolic process|muscle filament sliding|negative regulation of ATPase activity|positive regulation of ATPase activity|regulation of heart contraction|response to calcium ion|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(9)	20						TCAGCCAGAATCTTCTTCTTCTT	0.576											OREG0014076	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	201331101	TCT	-	201331099	7	5	159	1	0	1	0	1	0	0	0	0	16431	1435	50	0	251	0	TNNT2	1	201331099	In_Frame_Del	DEL	TCT	TCGA-19-2629-01A-01D-1495-08	39073888	201331099	47919522	9	10967											
KIDINS220	57498	broad.mit.edu	37	chr2	8872006	8872006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagcaatgtattctctaTaggcatctctatactcggcc	9	14	7	11	1	3	1	0	1	3	0	6	1	3	1	1	2	2	3	1	2	6	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:8872006T>C	uc002qzc.2	-	29	4342	c.4160A>G	c.(4159-4161)tAt>tGt	p.Y1387C	KIDINS220_uc010yiv.1_Intron|KIDINS220_uc002qzd.2_Missense_Mutation_p.Y1288C|KIDINS220_uc002qzb.2_Missense_Mutation_p.Y241C	NM_020738	NP_065789	Q9ULH0	KDIS_HUMAN	Homo sapiens kinase D-interacting substrate, 220kDa (KIDINS220), mRNA.	1387					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTATTCTCTATAGGCATCTCT	0.463													C	8872006	T	C	8872006	3	2	159	1	0	0	0	0	1	0	0	0	8329	1406	49	3	1159	3	KIDINS220	2	8872006	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08		8872006	234327367	10	10968											
DPYSL5	56896	broad.mit.edu	37	chr2	27165614	27165616	+	In_Frame_Del	DEL	AGA	AGA	-																															caagaagctggtccagagagAgaaggtgaggtgggaggagg																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27165614_27165616delAGA	uc002rhu.4	+	10	1594_1596	c.1436_1438delAGA	c.(1435-1440)gagaag>gag	p.K480del	DPYSL5_uc002rhv.4_In_Frame_Del_p.K480del|DPYSL5_uc021vev.1_In_Frame_Del_p.K480del	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	480					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTCCAGAGAGAGAAGGTGAGGTG	0.557											OREG0014510	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	27165616	AGA	-	27165614	7	5	159	1	0	1	0	1	0	0	0	0	4789	304	11	0	1474	0	DPYSL5	2	27165614	In_Frame_Del	DEL	AGA	TCGA-19-2629-01A-01D-1495-08	18293608	27165614	216033759	11	10969											
TMEM214	54867	broad.mit.edu	37	chr2	27258019	27258019	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggatgtggcagaccTgcagaaggaactggacaaga	13	5	15	8	0	0	3	0	0	0	3	0	6	0	6	1	4	3	4	1	4	3	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:27258019T>A	uc002ria.4	+	2	478	c.368T>A	c.(367-369)cTg>cAg	p.L123Q	TMEM214_uc002rib.4_Missense_Mutation_p.L123Q	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	123						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GTGGCAGACCTGCAGAAGGAA	0.537													A	27258019	T	A	27258019	3	1	159	1	0	0	0	0	1	0	0	0	16237	1580	55	5	378	5	TMEM214	2	27258019	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	92405	27258019	215941354	12	10970											
FAM176A	84141	broad.mit.edu	37	chr2	75745200	75745200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgagacaaaggaataggCcgctaggatgttgctgagca	13	7	13	8	1	0	2	0	2	0	1	0	5	0	4	2	3	2	4	2	3	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:75745200C>A	uc002sni.2	-	2	545	c.67G>T	c.(67-69)Gcc>Tcc	p.A23S	FAM176A_uc002snj.1_Missense_Mutation_p.A10S|FAM176A_uc002snk.1_Missense_Mutation_p.A23S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	23	Necessary for the localization and biological activity.				apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane				endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						AAGGAATAGGCCGCTAGGATG	0.612													A	75745200	C	A	75745200	3	1	159	1	0	0	0	0	1	0	0	0	5544	739	26	4	399	4	FAM176A	2	75745200	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	48487181	75745200	167454173	13	10971											
SEPT10	151011	broad.mit.edu	37	chr2	110350668	110350668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgaagacatacaagttGttttcgttgccatgtgagac	10	14	10	7	1	0	3	0	2	0	2	1	4	0	3	1	0	2	3	1	0	3	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:110350668G>C	uc002tey.3	-	1	438	c.59C>G	c.(58-60)aCa>aGa	p.T20R	SEPT10_uc010ywu.1_Missense_Mutation_p.T20R|SEPT10_uc002tew.3_Missense_Mutation_p.T20R|SEPT10_uc002tex.3_Intron|SEPT10_uc010ywv.2_5'UTR	NM_144710	NP_653311	Q9P0V9	SEP10_HUMAN	Homo sapiens septin 10 (SEPT10), transcript variant 1, mRNA.	20					cell cycle|cell division	septin complex	GTP binding	p.T19T(1)		breast(2)|endometrium(3)|large_intestine(4)|lung(8)|prostate(1)	18						CATACAAGTTGTTTTCGTTGC	0.323													C	110350668	G	C	110350668	3	2	159	1	0	0	0	0	1	0	0	0	14153	1377	48	4	1345	4	SEPT10	2	110350668	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	34605468	110350668	132848705	14	10972											
NEB	4703	broad.mit.edu	37	chr2	152518698	152518698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaaccatgttcatcgagTccatgagtgtggaatacttc	12	11	8	10	1	1	1	1	1	0	0	4	3	2	2	3	1	2	1	3	1	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:152518698T>C	uc021vrb.1	-	43	5950	c.5921A>G	c.(5920-5922)gAc>gGc	p.D1974G	NEB_uc002txu.3_Missense_Mutation_p.D1974G|NEB_uc021vrc.1_Missense_Mutation_p.D1974G|NEB_uc010fnx.3_Missense_Mutation_p.D1974G|NEB_uc021vrd.1_Missense_Mutation_p.D1974G	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	1974					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GTTCATCGAGTCCATGAGTGT	0.413													C	152518698	T	C	152518698	3	2	159	1	0	0	0	0	1	0	0	0	10378	1667	58	3	20313	3	NEB	2	152518698	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	42168030	152518698	90680675	15	10973											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	159	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	56594414	209113112	34086261	16	10974											
ZNF142	7701	broad.mit.edu	37	chr2	219521105	219521105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagggcacagtccatccatCtccccggtgctactggctgg	6	9	11	15	1	2	0	1	0	1	0	5	0	4	0	4	4	2	3	4	4	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr2:219521105C>T	uc002vin.3	-	3	484	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF142_uc002vil.3_5'UTR|ZNF142_uc010fvt.3_5'UTR|ZNF142_uc002vim.3_5'UTR	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	16					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GTCCATCCATCTCCCCGGTGC	0.582													T	219521105	C	T	219521105	2	4	159	1	0	0	0	0	0	0	0	1	17832	912	32	2		2	ZNF142	2	219521105	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10407993	219521105	23678268	17	10975											
NUP210	23225	broad.mit.edu	37	chr3	13432743	13432743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagtctgagaacctgtcCgcctcggagtccttcacaat	8	10	11	12	2	2	1	1	1	1	1	5	4	4	3	4	2	1	0	4	2	2	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:13432743C>T	uc003bxv.1	-	3	584	c.501G>A	c.(499-501)gcG>gcA	p.A167A		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	167					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGAACCTGTCCGCCTCGGAGT	0.582													T	13432743	C	T	13432743	2	4	159	1	0	0	0	0	0	0	0	1	10836	639	23	1		1	NUP210	3	13432743	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08		13432743	184589687	18	10976											
MRPS25	64432	broad.mit.edu	37	chr3	15094113	15094115	+	In_Frame_Del	DEL	CTC	CTC	-																															gggtgagaaagctgctttttCtcctcctcctcttccctgag																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:15094113_15094115delCTC	uc003bzl.3	-	3	470_472	c.355_357delGAG	c.(355-357)gagdel	p.E119del	MRPS25_uc011avl.2_In_Frame_Del_p.89_90RR>R|MRPS25_uc011avm.1_Intron	NM_022497	NP_071942	P82663	RT25_HUMAN	Homo sapiens mitochondrial ribosomal protein S25 (MRPS25), nuclear gene encoding mitochondrial protein, mRNA.	119					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			large_intestine(1)|lung(1)	2						GCTGCTTTTTCTCCTCCTCCTCT	0.586													-	15094115	CTC	-	15094113	7	5	159	1	0	1	0	1	0	0	0	0	9912	912	32	0	168	0	MRPS25	3	15094113	In_Frame_Del	DEL	CTC	TCGA-19-2629-01A-01D-1495-08	1661370	15094113	182928317	19	10977											
NICN1	84276	broad.mit.edu	37	chr3	49463788	49463788	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccacttggcaggtgtgTgtgctgaggtgtactgacgg	6	11	15	9	1	1	2	1	2	0	0	1	2	1	2	1	4	2	3	1	4	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:49463788T>G	uc003cwz.1	-	1	291	c.206A>C	c.(205-207)cAc>cCc	p.H69P	NICN1_uc021wxy.1_5'Flank|NICN1_uc011bcr.2_Missense_Mutation_p.H69P	NM_032316	NP_115692	Q9BSH3	NICN1_HUMAN	Homo sapiens nicolin 1 (NICN1), mRNA.	69						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGCAGGTGTGTGTGCTGAGGT	0.498													G	49463788	T	G	49463788	3	3	159	1	0	0	0	0	1	0	0	0	10489	1696	59	5	455	5	NICN1	3	49463788	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	34369675	49463788	148558642	20	10978											
TMEM115	11070	broad.mit.edu	37	chr3	50396188	50396190	+	In_Frame_Del	DEL	AGA	AGA	-																															tacagacacattcaccactgAgaagaagatgagcagctcca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:50396188_50396190delAGA	uc003dan.1	-	0	750_752	c.305_307delTCT	c.(304-309)ttctca>tca	p.F102del	Mir_324_uc021wyp.1_5'Flank	NM_007024	NP_008955	Q12893	TM115_HUMAN	Homo sapiens transmembrane protein 115 (TMEM115), mRNA.	102					negative regulation of cell proliferation	Golgi apparatus|integral to membrane|nucleus				breast(2)|endometrium(1)|lung(1)|prostate(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCACCACTGAGAAGAAGATGAG	0.601													-	50396190	AGA	-	50396188	7	5	159	1	0	1	0	1	0	0	0	0	16129	304	11	0	756	0	TMEM115	3	50396188	In_Frame_Del	DEL	AGA	TCGA-19-2629-01A-01D-1495-08	932400	50396188	147626242	21	10979											
C3orf17	25871	broad.mit.edu	37	chr3	112724550	112724550	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagtttgtatgacaggcaTtgaaactccactattcaaga	13	13	7	8	0	1	3	1	2	0	1	2	3	2	3	1	1	1	3	1	1	5	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:112724550T>C	uc003dzr.3	-	8	1598	c.1537A>G	c.(1537-1539)Atg>Gtg	p.M513V	C3orf17_uc011bia.2_Missense_Mutation_p.M310V|C3orf17_uc003dzu.3_Missense_Mutation_p.M442V|C3orf17_uc011bib.2_Missense_Mutation_p.M402V|C3orf17_uc011bic.2_Missense_Mutation_p.M346V|C3orf17_uc011bid.2_Non-coding_Transcript|C3orf17_uc011bhz.2_Missense_Mutation_p.M138V|C3orf17_uc003dzt.3_Missense_Mutation_p.M416V|C3orf17_uc003dzs.3_Missense_Mutation_p.M377V|C3orf17_uc010hqg.3_Missense_Mutation_p.M338V	NM_015412	NP_056227	Q6NW34	CC017_HUMAN	Homo sapiens chromosome 3 open reading frame 17 (C3orf17), transcript variant 1, mRNA.	513						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						ATGACAGGCATTGAAACTCCA	0.388													C	112724550	T	C	112724550	3	2	159	1	0	0	0	0	1	0	0	0	2231	1493	52	3	170	3	C3orf17	3	112724550	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	62328362	112724550	85297880	22	10980											
CCDC37	348807	broad.mit.edu	37	chr3	126138549	126138549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcctatacaagctgtcGcccaaggagtggcttgaaga	11	10	11	9	1	0	2	0	1	0	1	2	4	1	3	2	2	2	2	2	2	5	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:126138549G>A	uc010hsg.1	+	7	863	c.804G>A	c.(802-804)tcG>tcA	p.S268S	CCDC37_uc003eiu.1_Silent_p.S267S	NM_182628	NP_872434	Q494V2	CCD37_HUMAN	Homo sapiens coiled-coil domain containing 37 (CCDC37), mRNA.	267										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		ACAAGCTGTCGCCCAAGGAGT	0.488													A	126138549	G	A	126138549	2	1	159	1	0	0	0	0	0	0	0	1	2836	1074	38	1		1	CCDC37	3	126138549	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	13413999	126138549	71883881	23	10981											
CP	1356	broad.mit.edu	37	chr3	148903188	148903188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtatatttttgcttcatgCcgcctgtgtaatgatcagtt	8	17	8	8	1	2	1	2	1	0	0	2	1	2	1	2	0	2	4	2	0	3	7			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:148903188C>T	uc003ewy.4	-	11	2376	c.2123G>A	c.(2122-2124)gGc>gAc	p.G708D	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.G489D|CP_uc003ewz.3_Missense_Mutation_p.G708D	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	708	F5/8 type A 2.|Plastocyanin-like 4.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	p.G708S(1)		breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TTGCTTCATGCCGCCTGTGTA	0.468													T	148903188	C	T	148903188	3	4	159	1	0	0	0	0	1	0	0	0	3818	739	26	2	1106	2	CP	3	148903188	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	22764639	148903188	49119242	24	10982											
VEPH1	79674	broad.mit.edu	37	chr3	157213090	157213090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaggagaagaggtccccagCtcgtgaaagatctttttgtc	11	11	11	8	1	1	4	0	1	1	3	4	5	2	4	2	2	1	1	2	2	3	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:157213090C>A	uc003fbj.2	-	1	468	c.49G>T	c.(49-51)Gct>Tct	p.A17S	VEPH1_uc003fbk.2_Missense_Mutation_p.A17S|VEPH1_uc010hvu.2_Missense_Mutation_p.A17S|VEPH1_uc021xgk.1_Missense_Mutation_p.A17S|VEPH1_uc003fbn.3_Missense_Mutation_p.A17S|VEPH1_uc003fbm.3_Missense_Mutation_p.A17S	NM_024621	NP_078897	Q14D04	MELT_HUMAN	Homo sapiens ventricular zone expressed PH domain homolog 1 (zebrafish) (VEPH1), transcript variant 1, mRNA.	17						plasma membrane		p.A17G(1)		autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGGTCCCCAGCTCGTGAAAGA	0.413													A	157213090	C	A	157213090	3	1	159	1	0	0	0	0	1	0	0	0	17256	797	28	4	2626	4	VEPH1	3	157213090	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	8309902	157213090	40809340	25	10983											
TP63	8626	broad.mit.edu	37	chr3	189607256	189607256	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacctccgtatcccacAgattgcagcattgtcaggtg	8	9	8	16	1	1	1	1	0	0	1	3	1	3	1	5	1	2	3	5	1	1	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr3:189607256A>G	uc003fry.2	+	11	1724	c.1635A>G	c.(1633-1635)acA>acG	p.T545T	TP63_uc003frz.2_Silent_p.T545T|TP63_uc010hzc.1_Intron|TP63_uc003fsc.2_Silent_p.T451T|TP63_uc003fsd.2_Silent_p.T451T|TP63_uc021xir.1_Intron|TP63_uc010hzd.1_Silent_p.T366T	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	545	SAM.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGTATCCCACAGATTGCAGCA	0.597										HNSCC(45;0.13)			G	189607256	A	G	189607256	2	3	159	1	0	0	0	0	0	0	0	1	16493	175	7	3		3	TP63	3	189607256	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	32394166	189607256	8415174	26	10984											
LGI2	55203	broad.mit.edu	37	chr4	25019723	25019723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggaatttgtcatcttcaaCcacaggtatagccacttggc	10	12	9	10	0	3	0	2	0	1	0	3	1	3	1	2	3	2	1	2	3	4	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:25019723C>A	uc003grf.2	-	5	642	c.543G>T	c.(541-543)tgG>tgT	p.W181C		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	181	LRRCT.					extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TCATCTTCAACCACAGGTATA	0.373													A	25019723	C	A	25019723	3	1	159	1	0	0	0	0	1	0	0	0	8812	508	18	4	1106	4	LGI2	4	25019723	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		25019723	166134553	27	10985											
UGT2A3	79799	broad.mit.edu	37	chr4	69798344	69798344	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggattggaggttttactgAccttctgtgggatctgggca	7	13	14	7	0	2	1	0	1	2	0	2	4	2	4	1	5	1	2	1	5	1	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:69798344A>G	uc003hef.2	-	3	1027	c.996_splice	c.e3+1	p.K332_splice	UGT2A3_uc010ihp.1_Splice_Site	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	332						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGTTTTACTGACCTTCTGTGG	0.398													G	69798344	A	G	69798344	5	3	159	1	0	0	0	0	0	0	1	0	17057	289	10	3	601	3	UGT2A3	4	69798344	Splice_Site	SNP	A	TCGA-19-2629-01A-01D-1495-08	44778621	69798344	121355932	28	10986											
USP53	54532	broad.mit.edu	37	chr4	120213685	120213686	+	Frame_Shift_Del	DEL	CT	CT	-																															ttgccttttcacgttgataaCtctgcttctgggaagagagt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:120213685_120213686delCT	uc003ics.4	+	17	3607_3608	c.2541_2542delCT	c.(2539-2544)aactctfs	p.N847fs	USP53_uc003icr.4_Frame_Shift_Del_p.N847fs|USP53_uc003icu.4_Frame_Shift_Del_p.N470fs	NM_019050	NP_061923	Q70EK8	UBP53_HUMAN	Homo sapiens ubiquitin specific peptidase 53 (USP53), mRNA.	847					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACGTTGATAACTCTGCTTCTGG	0.391													-	120213686	CT	-	120213685	7	5	159	1	0	1	0	1	0	0	0	0	17186	564	20	0	2599	0	USP53	4	120213685	Frame_Shift_Del	DEL	CT	TCGA-19-2629-01A-01D-1495-08	50415341	120213685	70940591	29	10987											
PCDH18	54510	broad.mit.edu	37	chr4	138442804	138442804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtggtggcatccagcactgGtcagagtgtcccaggaccct	8	8	13	12	0	1	1	1	0	0	1	3	2	3	2	3	4	1	2	3	4	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:138442804G>T	uc003ihe.4	-	3	3174	c.2787C>A	c.(2785-2787)gaC>gaA	p.D929E	PCDH18_uc003ihf.4_Missense_Mutation_p.D921E|PCDH18_uc011cgz.2_Missense_Mutation_p.D140E|PCDH18_uc003ihg.4_Missense_Mutation_p.D708E|PCDH18_uc011cha.2_Missense_Mutation_p.D109E	NM_019035	NP_061908	Q9HCL0	PCD18_HUMAN	Homo sapiens protocadherin 18 (PCDH18), mRNA.	929	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D929V(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TCCAGCACTGGTCAGAGTGTC	0.498													T	138442804	G	T	138442804	3	4	159	1	0	0	0	0	1	0	0	0	11589	1252	44	4	624	4	PCDH18	4	138442804	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	18229119	138442804	52711472	30	10988											
SPOCK3	50859	broad.mit.edu	37	chr4	167921580	167921580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttatggcgactacatttCatctttaagcatggatcctt	10	16	6	9	1	2	0	1	0	1	0	3	2	3	1	1	2	2	1	1	2	3	7			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:167921580C>T	uc011cjq.1	-	2	363	c.306G>A	c.(304-306)atG>atA	p.M102I	SPOCK3_uc021xuf.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjr.1_Intron|SPOCK3_uc003iri.1_Missense_Mutation_p.M93I|SPOCK3_uc011cjs.1_Missense_Mutation_p.M42I|SPOCK3_uc003irj.1_Missense_Mutation_p.M90I|SPOCK3_uc011cjt.1_Missense_Mutation_p.M1I|SPOCK3_uc011cjp.2_Missense_Mutation_p.M90I|SPOCK3_uc011cju.1_Intron|SPOCK3_uc011cjv.1_Intron|SPOCK3_uc003irk.4_Missense_Mutation_p.M90I|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	93					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GACTACATTTCATCTTTAAGC	0.348													T	167921580	C	T	167921580	3	4	159	1	0	0	0	0	1	0	0	0	15177	826	29	2	1063	2	SPOCK3	4	167921580	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	29478776	167921580	23232696	31	10989											
MFAP3L	9848	broad.mit.edu	37	chr4	170926952	170926952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtcacactcttagcggtgGctagagtggatactaggatt	10	12	12	7	1	2	1	1	0	1	1	2	3	2	3	0	4	2	1	0	4	5	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:170926952G>A	uc003isp.4	-	1	255	c.77C>T	c.(76-78)gCc>gTc	p.A26V	MFAP3L_uc003isn.4_5'Flank	NM_021647	NP_001009554	O75121	MFA3L_HUMAN	Homo sapiens microfibrillar-associated protein 3-like (MFAP3L), transcript variant 1, mRNA.	26						integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTTAGCGGTGGCTAGAGTGGA	0.458													A	170926952	G	A	170926952	3	1	159	1	0	0	0	0	1	0	0	0	9591	1203	42	2	1160	2	MFAP3L	4	170926952	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	3005372	170926952	20227324	32	10990											
TLR3	7098	broad.mit.edu	37	chr4	187003773	187003773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagtataataatatacaGcatttgttttctcactcttt	12	18	4	7	0	2	1	1	0	2	1	3	1	2	1	0	0	2	3	0	0	6	10			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr4:187003773G>A	uc003iyq.3	+	3	1034	c.933G>A	c.(931-933)caG>caA	p.Q311Q	TLR3_uc011ckz.2_Silent_p.Q34Q|TLR3_uc003iyr.3_Silent_p.Q34Q	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	311					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		ATAATATACAGCATTTGTTTT	0.383													A	187003773	G	A	187003773	2	1	159	1	0	0	0	0	0	0	0	1	16052	962	34	2		2	TLR3	4	187003773	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	16076821	187003773	4150503	33	10991											
SPEF2	79925	broad.mit.edu	37	chr5	35771803	35771804	+	Frame_Shift_Ins	INS	-	-	A																															ctcctcagatgggtgcaaatINSaaaaaagtcaaaaaggagcc																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:35771803_35771804insA	uc003jjo.3	+	26	4005_4006	c.3894_3895insA	c.(3892-3897)aataaafs	p.N1298fs	SPEF2_uc003jjp.1_Frame_Shift_Ins_p.N784fs|SPEF2_uc003jjr.3_5'Flank	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1298					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)			TGGGTGCAAATAAAAAAGTCAA	0.426													A	35771804	-	A	35771803	7	5	159	1	0	1	1	0	0	0	0	0	15131	1403	49	0	4021	0	SPEF2	5	35771803	Frame_Shift_Ins	INS	-	TCGA-19-2629-01A-01D-1495-08		35771803	145143457	34	10992											
PIK3R1	5295	broad.mit.edu	37	chr5	67589619	67589621	+	In_Frame_Del	DEL	GAG	GAG	-																															tcagtttcaagaaaaaagtcGagaatatgatagattatatg																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:67589619_67589621delGAG	uc003jva.3	+	10	1962_1964	c.1382_1384delGAG	c.(1381-1386)cgagaa>caa	p.461_462RE>Q	PIK3R1_uc003jvc.3_In_Frame_Del_p.161_162RE>Q|PIK3R1_uc003jvd.3_In_Frame_Del_p.191_192RE>Q|PIK3R1_uc003jve.3_In_Frame_Del_p.140_141RE>Q|PIK3R1_uc021xzn.1_In_Frame_Del_p.98_99RE>Q|PIK3R1_uc011crb.2_In_Frame_Del_p.131_132RE>Q	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	461					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.F456_R461>S(2)|p.F456_R461del(2)|p.E462_R465delEYDR(2)|p.Q457_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.E462*(2)|p.E162*(1)|p.E192*(1)|p.K459_S460>N(1)|p.0?(1)|p.?(1)|p.S460fs*5(1)|p.R461*(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAAAAAGTCGAGAATATGATAG	0.281			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589621	GAG	-	67589619	7	5	159	1	0	1	0	1	0	0	0	0	11995	1058	37	0	1550	0	PIK3R1	5	67589619	In_Frame_Del	DEL	GAG	TCGA-19-2629-01A-01D-1495-08	31817816	67589619	113325641	35	10993											
HOMER1	9456	broad.mit.edu	37	chr5	78752779	78752781	+	In_Frame_Del	DEL	TTC	TTC	-																															gcttgctggtgggtacccagTtcttctttgtgtttgggtca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:78752779_78752781delTTC	uc003kfy.3	-	1	1169_1171	c.66_68delGAA	c.(64-69)aagaac>aac	p.K22del	HOMER1_uc010jab.3_In_Frame_Del_p.K22del|HOMER1_uc010jac.3_In_Frame_Del_p.K22del|HOMER1_uc010jad.3_Intron	NM_004272	NP_004263	Q86YM7	HOME1_HUMAN	Homo sapiens homer homolog 1 (Drosophila) (HOMER1), mRNA.	22	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		GGGTACCCAGTTCTTCTTTGTGT	0.433													-	78752781	TTC	-	78752779	7	5	159	1	0	1	0	1	0	0	0	0	7333	1725	60	0	1028	0	HOMER1	5	78752779	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	11163160	78752779	102162481	36	10994											
FAT2	2196	broad.mit.edu	37	chr5	150934173	150934173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtcattgacgtccaagAtgcctaccaccaccctggag	10	9	9	13	1	1	2	1	1	0	1	2	4	2	3	5	1	2	0	5	1	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:150934173A>G	uc003lue.4	-	3	3708	c.3695T>C	c.(3694-3696)aTc>aCc	p.I1232T		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1232	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GACGTCCAAGATGCCTACCAC	0.552													G	150934173	A	G	150934173	3	3	159	1	0	0	0	0	1	0	0	0	5739	333	12	3	9434	3	FAT2	5	150934173	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	72181394	150934173	29981087	37	10995											
TIMD4	91937	broad.mit.edu	37	chr5	156381617	156381617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccctcattccatcagtgCggatgagcgcctccttgcaa	8	10	8	15	2	3	1	3	1	0	0	5	2	5	2	4	1	3	1	4	1	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:156381617C>T	uc003lwh.2	-	1	266	c.209G>A	c.(208-210)cGc>cAc	p.R70H	TIMD4_uc010jii.2_Missense_Mutation_p.R70H	NM_138379	NP_612388	Q96H15	TIMD4_HUMAN	Homo sapiens T-cell immunoglobulin and mucin domain containing 4 (TIMD4), transcript variant 1, mRNA.	70	Ig-like V-type.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TCCATCAGTGCGGATGAGCGC	0.522													T	156381617	C	T	156381617	3	4	159	1	0	0	0	0	1	0	0	0	16003	768	27	1	959	1	TIMD4	5	156381617	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	5447444	156381617	24533643	38	10996											
FGFR4	2264	broad.mit.edu	37	chr5	176520301	176520301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccgcccgccactgtgcAgaagctctcccgcttccctc	4	7	8	22	4	1	1	0	0	1	1	4	1	2	1	6	0	2	3	6	0	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr5:176520301A>C	uc003mfl.3	+	8	1387	c.1220A>C	c.(1219-1221)cAg>cCg	p.Q407P	FGFR4_uc003mfm.3_Missense_Mutation_p.Q407P|FGFR4_uc011dfu.2_Intron|FGFR4_uc011dfw.1_3'UTR|FGFR4_uc003mfo.3_Intron	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	407					insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCACTGTGCAGAAGCTCTCC	0.692										TSP Lung(9;0.080)			C	176520301	A	C	176520301	3	2	159	1	0	0	0	0	1	0	0	0	5917	188	7	5	1250	5	FGFR4	5	176520301	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	20138684	176520301	4394959	39	10997											
KIAA0319	9856	broad.mit.edu	37	chr6	24563608	24563608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagatccgagtgggcccgaAtcttctggaccttaatgtcc	8	11	11	11	2	2	1	0	1	2	1	4	5	4	2	4	2	0	0	4	2	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:24563608A>G	uc011djo.2	-	15	3070	c.2570T>C	c.(2569-2571)aTt>aCt	p.I857T	KIAA0319_uc011djp.2_Missense_Mutation_p.I812T|KIAA0319_uc003neh.1_Missense_Mutation_p.I857T|KIAA0319_uc011djq.1_Missense_Mutation_p.I848T|KIAA0319_uc011djr.1_Missense_Mutation_p.I857T|KIAA0319_uc010jpt.1_Missense_Mutation_p.I268T	NM_001168375	NP_001161848	Q5VV43	K0319_HUMAN	Homo sapiens KIAA0319 (KIAA0319), transcript variant 2, mRNA.	857					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTGGGCCCGAATCTTCTGGAC	0.567													G	24563608	A	G	24563608	3	3	159	1	0	0	0	0	1	0	0	0	8226	101	4	3	672	3	KIAA0319	6	24563608	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08		24563608	146551459	40	10998											
HIST1H3F	8968	broad.mit.edu	37	chr6	26250643	26250643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgctggaatggtagcttgCgaatcagtagctcagtcgat	10	10	13	8	3	2	0	2	0	0	0	3	4	2	1	0	2	3	5	0	2	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:26250643C>T	uc003nhg.1	-	0	193	c.191G>A	c.(190-192)cGc>cAc	p.R64H	HIST1H2BH_uc003nhh.3_5'Flank	NM_021018	NP_066298	P68431	H31_HUMAN	Homo sapiens histone cluster 1, H3f (HIST1H3F), mRNA.	64					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			lung(6)|urinary_tract(1)	7						TGGTAGCTTGCGAATCAGTAG	0.612											OREG0017241	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26250643	C	T	26250643	3	4	159	1	0	0	0	0	1	0	0	0	7215	768	27	1	223	1	HIST1H3F	6	26250643	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	1687035	26250643	144864424	41	10999											
TULP1	7287	broad.mit.edu	37	chr6	35477607	35477607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaggctgggctcaccttTcttcttggtctttctcatct	3	17	7	14	0	6	0	2	0	5	0	7	0	6	0	2	3	0	2	2	3	1	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:35477607T>C	uc003okv.4	-	5	610	c.598A>G	c.(598-600)Aaa>Gaa	p.K200E	TULP1_uc003okw.4_Missense_Mutation_p.K147E|TULP1_uc021yyx.1_Missense_Mutation_p.K200E|TULP1_uc021yyy.1_Missense_Mutation_p.K200E	NM_003322	NP_003313	O00294	TULP1_HUMAN	Homo sapiens tubby like protein 1 (TULP1), mRNA.	200					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCACCTTTCTTCTTGGTC	0.592													C	35477607	T	C	35477607	3	2	159	1	0	0	0	0	1	0	0	0	16875	1792	62	3	1070	3	TULP1	6	35477607	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	9226964	35477607	135637460	42	11000											
CAPN11	11131	broad.mit.edu	37	chr6	44140965	44140965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccacaggctgagtgggTcctatgaagcattgtcaggg	8	9	15	9	0	1	2	1	2	0	0	2	2	2	2	2	3	2	2	2	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:44140965T>A	uc003owt.1	+	6	711	c.673T>A	c.(673-675)Tcc>Acc	p.S225T		NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	225	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GCTGAGTGGGTCCTATGAAGC	0.617											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44140965	T	A	44140965	3	1	159	1	0	0	0	0	1	0	0	0	2650	1667	58	5	699	5	CAPN11	6	44140965	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	8663358	44140965	126974102	43	11001											
RAB23	51715	broad.mit.edu	37	chr6	57055306	57055309	+	Frame_Shift_Del	DEL	TTTG	TTTG	-																															atttctgtttttcttggtccTttgtttgttgggtctaagat																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:57055306_57055309delTTTG	uc003pds.3	-	6	870_873	c.664_667delCAAA	c.(664-669)caaaggfs	p.Q222fs	RAB23_uc003pdt.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kac.3_Frame_Shift_Del_p.Q222fs|RAB23_uc010kad.3_Non-coding_Transcript	NM_183227	NP_899050	Q9ULC3	RAB23_HUMAN	Homo sapiens RAB23, member RAS oncogene family (RAB23), transcript variant 2, mRNA.	222					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TTCTTGGTCCTTTGTTTGTTGGGT	0.387													-	57055309	TTTG	-	57055306	7	5	159	1	0	1	0	1	0	0	0	0	12998	1608	56	0	50	0	RAB23	6	57055306	Frame_Shift_Del	DEL	TTTG	TCGA-19-2629-01A-01D-1495-08	12914341	57055306	114059761	44	11002											
SPACA1	81833	broad.mit.edu	37	chr6	88769216	88769216	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatcctagaagtacgcAaggaaagtcaccccttggct	13	7	9	12	1	1	1	1	0	0	1	2	2	2	2	3	2	2	4	3	2	6	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:88769216A>C	uc003pmn.3	+	4	637	c.520A>C	c.(520-522)Aag>Cag	p.K174Q		NM_030960	NP_112222	Q9HBV2	SACA1_HUMAN	Homo sapiens sperm acrosome associated 1 (SPACA1), mRNA.	174						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		AGAAGTACGCAAGGAAAGTCA	0.343													C	88769216	A	C	88769216	3	2	159	1	0	0	0	0	1	0	0	0	15066	131	5	5	538	5	SPACA1	6	88769216	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	31713910	88769216	82345851	45	11003											
ASCC3	10973	broad.mit.edu	37	chr6	101110219	101110219	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaggaaggtaagctcttAccttaataataacagcatgg	16	10	8	7	0	2	0	1	0	1	0	2	1	2	1	1	3	4	3	1	3	7	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr6:101110219A>T	uc003pqk.3	-	15	2807	c.2478_splice	c.e15+1	p.K826_splice	ASCC3_uc011eai.1_Splice_Site_p.K728_splice	NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	826	Helicase C-terminal 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GTAAGCTCTTACCTTAATAAT	0.398													T	101110219	A	T	101110219	5	4	159	1	0	0	0	0	0	0	1	0	1038	405	14	5	4240	5	ASCC3	6	101110219	Splice_Site	SNP	A	TCGA-19-2629-01A-01D-1495-08	12341003	101110219	70004848	46	11004											
CCDC129	223075	broad.mit.edu	37	chr7	31617703	31617703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacccagaggtatcagaGtccttcaaggtgaaggatga	13	9	12	7	0	2	4	2	2	0	2	3	5	3	5	2	3	1	2	2	3	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:31617703G>A	uc011kae.2	+	7	915	c.903G>A	c.(901-903)gaG>gaA	p.E301E	CCDC129_uc011kad.1_Silent_p.E285E|CCDC129_uc003tcj.1_Silent_p.E275E|CCDC129_uc003tci.1_Intron|CCDC129_uc003tck.1_Silent_p.E183E	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	275										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGGTATCAGAGTCCTTCAAGG	0.453													A	31617703	G	A	31617703	2	1	159	1	0	0	0	0	0	0	0	1	2790	1020	36	2		2	CCDC129	7	31617703	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08		31617703	127520960	47	11005											
TRIM73	378108	broad.mit.edu	37	chr7	75028495	75028495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtctgcgtgcaccaccGgaacccgctcagccttttct	7	9	9	16	3	3	0	1	0	2	0	3	1	3	1	4	2	4	2	4	2	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:75028495G>A	uc010ldc.3	+	1	478	c.278G>A	c.(277-279)cGg>cAg	p.R93Q	TRIM73_uc003udc.1_Missense_Mutation_p.R93Q|TRIM73_uc010ldd.2_Missense_Mutation_p.R93Q	NM_198924	NP_944606	Q86UV6	TRI74_HUMAN	Homo sapiens tripartite motif containing 73 (TRIM73), mRNA.	93						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGCACCACCGGAACCCGCTC	0.667													A	75028495	G	A	75028495	3	1	159	1	0	0	0	0	1	0	0	0	16647	1116	39	1	280	1	TRIM73	7	75028495	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	43410792	75028495	84110168	48	11006											
SMURF1	57154	broad.mit.edu	37	chr7	98636097	98636099	+	In_Frame_Del	DEL	GTT	GTT	-																															tgcaggatccgcccgaaggcGttgtgttccacgcagaaggt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:98636097_98636099delGTT	uc003upu.2	-	14	2018_2020	c.1678_1680delAAC	c.(1678-1680)aacdel	p.N560del	SMURF1_uc003upv.2_In_Frame_Del_p.N534del|SMURF1_uc003upt.3_In_Frame_Del_p.N534del	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	560	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GCCCGAAGGCGTTGTGTTCCACG	0.512													-	98636099	GTT	-	98636097	7	5	159	1	0	1	0	1	0	0	0	0	14913	1136	40	0	613	0	SMURF1	7	98636097	In_Frame_Del	DEL	GTT	TCGA-19-2629-01A-01D-1495-08	23607602	98636097	60502566	49	11007											
CFTR	1080	broad.mit.edu	37	chr7	117180363	117180363	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttccctgggctgtacaaaCatggtatgactctcttggag	9	13	10	9	0	1	1	0	1	1	0	3	2	2	2	1	3	2	3	1	3	3	4	rs75053309		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:117180363C>G	uc003vjd.3	+	7	1211	c.1079C>G	c.(1078-1080)aCa>aGa	p.T360R	CFTR_uc011knq.2_5'UTR	NM_000492	NP_000483	P13569	CFTR_HUMAN	Homo sapiens cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7) (CFTR), mRNA.	360	ABC transmembrane type-1 1.		QT -> KK (in CF).		respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GCTGTACAAACATGGTATGAC	0.388									Cystic Fibrosis				G	117180363	C	G	117180363	3	3	159	1	0	0	0	0	1	0	0	0	3324	478	17	4	1109	4	CFTR	7	117180363	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	18544266	117180363	41958300	50	11008											
SSPO	23145	broad.mit.edu	37	chr7	149477563	149477563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgcgccagctgtgtaaccCctggtgggtccttgagccat	5	10	13	13	2	0	1	0	1	0	0	1	1	1	1	5	2	4	2	5	2	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr7:149477563C>A	uc010lpk.3	+	11	1634	c.1634C>A	c.(1633-1635)cCc>cAc	p.P545H	SSPO_uc010lpl.1_Intron	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	545					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGTGTAACCCCTGGTGGGTC	0.627													A	149477563	C	A	149477563	3	1	159	1	0	0	0	0	1	0	0	0	15285	623	22	4	1678	4	SSPO	7	149477563	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	32297200	149477563	9661100	51	11009											
POLR3D	661	broad.mit.edu	37	chr8	22106020	22106020	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccccggcctgaggaaCgacactcgaaatatgcctgt	11	7	11	12	3	0	2	0	2	0	0	1	6	0	3	4	2	2	0	4	2	3	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:22106020C>T	uc003xbl.3	+	5	596	c.513C>T	c.(511-513)aaC>aaT	p.N171N	POLR3D_uc003xbm.3_Silent_p.N171N|POLR3D_uc011kze.2_Non-coding_Transcript	NM_001722	NP_001713	P05423	RPC4_HUMAN	Homo sapiens polymerase (RNA) III (DNA directed) polypeptide D, 44kDa (POLR3D), mRNA.	171					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		GCCTGAGGAACGACACTCGAA	0.527													T	22106020	C	T	22106020	2	4	159	1	0	0	0	0	0	0	0	1	12308	535	19	1		1	POLR3D	8	22106020	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08		22106020	124258002	52	11010											
KCTD9	54793	broad.mit.edu	37	chr8	25287394	25287394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgacactttgtgacatGtgtagtggtgtcagcatctc	8	14	10	9	0	3	2	1	2	2	0	4	2	3	2	0	1	1	2	0	1	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:25287394G>A	uc003xeo.3	-	11	1371	c.1149C>T	c.(1147-1149)caC>caT	p.H383H	DOCK5_uc003xek.3_Intron|KCTD9_uc011lad.2_Non-coding_Transcript	NM_017634	NP_060104	Q7L273	KCTD9_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 9 (KCTD9), mRNA.	383						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	12		all_cancers(63;0.0164)|Ovarian(32;0.000878)|all_epithelial(46;0.00542)|Breast(100;0.0164)|Hepatocellular(4;0.114)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Epithelial(17;2.39e-12)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0438)		TTTGTGACATGTGTAGTGGTG	0.428													A	25287394	G	A	25287394	2	1	159	1	0	0	0	0	0	0	0	1	8174	1368	48	2		2	KCTD9	8	25287394	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	3181374	25287394	121076628	53	11011											
FAM110B	90362	broad.mit.edu	37	chr8	59058884	59058884	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccctgcgcatcctgaacaAggggccagactacttccgca	9	6	10	16	2	0	2	0	1	0	1	2	2	2	2	5	2	3	2	5	2	3	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:59058884A>T	uc022auu.1	+	0	95	c.95A>T	c.(94-96)aAg>aTg	p.K32M	FAM110B_uc003xtj.1_Missense_Mutation_p.K32M	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	32						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				ATCCTGAACAAGGGGCCAGAC	0.657													T	59058884	A	T	59058884	3	4	159	1	0	0	0	0	1	0	0	0	5442	72	3	5	97	5	FAM110B	8	59058884	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	33771490	59058884	87305138	54	11012											
NCOA2	10499	broad.mit.edu	37	chr8	71069277	71069277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcccccagaaccaccAaacctgcccatgggcatgcc	10	7	6	18	0	1	1	1	0	0	1	2	1	2	1	7	1	4	1	7	1	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:71069277A>G	uc003xyn.1	-	10	1485	c.1323T>C	c.(1321-1323)ttT>ttC	p.F441F		NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	441					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			CAGAACCACCAAACCTGCCCA	0.502			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								G	71069277	A	G	71069277	2	3	159	1	0	0	0	0	0	0	0	1	10305	127	5	3		3	NCOA2	8	71069277	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	12010393	71069277	75294745	55	11013											
SLC7A13	157724	broad.mit.edu	37	chr8	87235301	87235301	+	Frame_Shift_Del	DEL	G	G	-																															aacgcagtaaatatgcatttGggaattgttgttctgggctt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:87235301delG	uc003ydq.1	-	1	815	c.717delC	c.(715-717)cccfs	p.P239fs	SLC7A13_uc003ydr.1_Frame_Shift_Del_p.P230fs	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	239						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATATGCATTTGGGAATTGTTG	0.358													-	87235301	G	-	87235301	7	5	159	1	0	1	0	1	0	0	0	0	14789	1335	47	0	707	0	SLC7A13	8	87235301	Frame_Shift_Del	DEL	G	TCGA-19-2629-01A-01D-1495-08	16166024	87235301	59128721	56	11014											
NCALD	83988	broad.mit.edu	37	chr8	102705056	102705056	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggcggaagatcttttcTgttcttttctctggggttga	5	18	11	7	1	5	2	0	1	5	1	6	3	5	3	0	4	0	2	0	4	1	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:102705056T>C	uc003yke.3	-	2	816	c.447A>G	c.(445-447)acA>acG	p.T149T	NCALD_uc003ykf.3_Silent_p.T149T|NCALD_uc003ykg.3_Silent_p.T149T|NCALD_uc003ykh.3_Silent_p.T149T|NCALD_uc003yki.3_Silent_p.T149T|NCALD_uc003ykj.3_Silent_p.T149T|NCALD_uc003ykk.3_Silent_p.T149T|NCALD_uc003ykl.3_Silent_p.T149T	NM_032041	NP_114430	P61601	NCALD_HUMAN	Homo sapiens neurocalcin delta (NCALD), transcript variant 8, mRNA.	149	EF-hand 4.				synaptic transmission|vesicle-mediated transport	clathrin coat of trans-Golgi network vesicle|cytosol	actin binding|calcium ion binding|clathrin binding|tubulin binding			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)	8	all_cancers(14;8.94e-08)|all_epithelial(15;7.03e-10)|Lung NSC(17;1.36e-05)|all_lung(17;2.7e-05)		all cancers(13;1.09e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000699)			AGATCTTTTCTGTTCTTTTCT	0.507													C	102705056	T	C	102705056	2	2	159	1	0	0	0	0	0	0	0	1	10277	1567	55	3		3	NCALD	8	102705056	Silent	SNP	T	TCGA-19-2629-01A-01D-1495-08	15469755	102705056	43658966	57	11015											
PKHD1L1	93035	broad.mit.edu	37	chr8	110460477	110460477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtaatgtaaccatggccaAtgatagtgtggtgcagtgca	11	11	13	6	0	0	1	0	1	0	0	0	1	0	1	2	2	3	4	2	2	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:110460477A>G	uc003yne.3	+	38	5986	c.5882A>G	c.(5881-5883)aAt>aGt	p.N1961S		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1961	IPT/TIG 12.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCATGGCCAATGATAGTGTG	0.438										HNSCC(38;0.096)			G	110460477	A	G	110460477	3	3	159	1	0	0	0	0	1	0	0	0	12049	101	4	3	6036	3	PKHD1L1	8	110460477	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	7755421	110460477	35903545	58	11016											
FER1L6	654463	broad.mit.edu	37	chr8	125047566	125047566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaagcaaaagtcgacGtgtacctgtggctgggctcc	8	9	13	11	2	0	0	0	0	0	0	2	1	1	0	2	2	3	5	2	2	4	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:125047566G>A	uc003yqw.3	+	18	2541	c.2335G>A	c.(2335-2337)Gtg>Atg	p.V779M	FER1L6-AS1_uc003yqx.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	779						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAAAGTCGACGTGTACCTGTG	0.493													A	125047566	G	A	125047566	3	1	159	1	0	0	0	0	1	0	0	0	5864	1145	40	1	2405	1	FER1L6	8	125047566	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	14587089	125047566	21316456	59	11017											
DGAT1	8694	broad.mit.edu	37	chr8	145540703	145540703	+	Frame_Shift_Del	DEL	G	G	-																															acctcgtggaagaaggccgaGgccaggaacacccctgtcct																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr8:145540703delG	uc003zbv.3	-	14	1498	c.1230delC	c.(1228-1230)gccfs	p.A410fs		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	410					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGAAGGCCGAGGCCAGGAACA	0.637													-	145540703	G	-	145540703	7	5	159	1	0	1	0	1	0	0	0	0	4496	987	35	0	248	0	DGAT1	8	145540703	Frame_Shift_Del	DEL	G	TCGA-19-2629-01A-01D-1495-08	20493137	145540703	823319	60	11018											
FXN	2395	broad.mit.edu	37	chr9	71687595	71687595	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacggcgtgtccctccatGagctgctggccgcagagctc	6	7	13	15	4	0	2	0	1	0	1	3	3	2	2	3	2	3	4	3	2	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:71687595G>T	uc004aha.2	+	4	770	c.550G>T	c.(550-552)Gag>Tag	p.E184*	FXN_uc011lrr.1_Intron|FXN_uc004agz.2_Missense_Mutation_p.M186I	NM_000144	NP_000135	Q16595	FRDA_HUMAN	Homo sapiens frataxin (FXN), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	184					cellular iron ion homeostasis|cellular response to hydrogen peroxide|heme biosynthetic process|ion transport|iron incorporation into metallo-sulfur cluster|negative regulation of apoptosis|negative regulation of release of cytochrome c from mitochondria|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity|protein autoprocessing|regulation of ferrochelatase activity|response to iron ion	cytosol|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferric iron binding|ferrous iron binding|ferroxidase activity|iron chaperone activity|protein binding			large_intestine(1)|lung(1)	2						GTCCCTCCATGAGCTGCTGGC	0.498													T	71687595	G	T	71687595	4	4	159	1	0	0	0	0	0	1	0	0	6166	1291	45	4	576	4	FXN	9	71687595	Nonsense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		71687595	69525836	61	11019											
TLE4	7091	broad.mit.edu	37	chr9	82227600	82227600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcaagaggctgaatgctatCtgtgcacaagtcattccttt	10	13	9	9	0	3	2	2	1	1	1	4	2	4	2	1	1	2	3	1	1	4	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:82227600C>T	uc004ald.3	+	4	1110	c.261C>T	c.(259-261)atC>atT	p.I87I	TLE4_uc004alc.3_Silent_p.I94I|TLE4_uc010mpr.3_5'UTR|TLE4_uc004ale.3_5'UTR|TLE4_uc011lsq.2_Silent_p.I87I|TLE4_uc010mps.3_Silent_p.I87I|TLE4_uc004alf.3_Silent_p.I32I	NM_007005	NP_008936	O60756	BCE1_HUMAN	Homo sapiens transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila) (TLE4), mRNA.	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						TGAATGCTATCTGTGCACAAG	0.408													T	82227600	C	T	82227600	2	4	159	1	0	0	0	0	0	0	0	1	16041	903	32	2		2	TLE4	9	82227600	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10540005	82227600	58985831	62	11020											
TDRD7	23424	broad.mit.edu	37	chr9	100235814	100235814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcaaagtaactaatatttGctctgatgggacactctact	12	14	7	8	0	3	1	1	1	2	0	3	2	3	2	0	1	3	2	0	1	5	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:100235814G>T	uc004axj.3	+	10	2210	c.1985G>T	c.(1984-1986)tGc>tTc	p.C662F	TDRD7_uc011lux.2_Missense_Mutation_p.C588F|TDRD7_uc010msp.1_5'UTR|TDRD7_uc011luy.2_Missense_Mutation_p.C11F	NM_014290	NP_055105	Q8NHU6	TDRD7_HUMAN	Homo sapiens tudor domain containing 7 (TDRD7), mRNA.	662					lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACTAATATTTGCTCTGATGGG	0.443													T	100235814	G	T	100235814	3	4	159	1	0	0	0	0	1	0	0	0	15835	1319	46	4	2023	4	TDRD7	9	100235814	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	18008214	100235814	40977617	63	11021											
HSDL2	84263	broad.mit.edu	37	chr9	115181194	115181194	+	Frame_Shift_Del	DEL	A	A	-																															tgtgcttggaatggcagaagAatttaaaggtgaaattgcag																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:115181194delA	uc004bga.2	+	5	809	c.554delA	c.(553-555)gaafs	p.E185fs	HSDL2_uc004bgc.2_Frame_Shift_Del_p.E112fs|HSDL2_uc004bgb.2_Frame_Shift_Del_p.N36fs|HSDL2_uc011lww.2_Intron|HSDL2_uc011lwv.2_Frame_Shift_Del_p.E64fs	NM_032303	NP_115679	Q6YN16	HSDL2_HUMAN	Homo sapiens hydroxysteroid dehydrogenase like 2 (HSDL2), transcript variant 1, mRNA.	185						peroxisome	oxidoreductase activity|sterol binding			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						ATGGCAGAAGAATTTAAAGGT	0.284													-	115181194	A	-	115181194	7	5	159	1	0	1	0	1	0	0	0	0	7449	246	9	0	576	0	HSDL2	9	115181194	Frame_Shift_Del	DEL	A	TCGA-19-2629-01A-01D-1495-08	14945380	115181194	26032237	64	11022											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123313122	123313122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctgttgcattctttccTcaaggaaatagatgcggagc	10	13	9	9	1	2	1	1	0	1	1	4	3	4	3	2	2	3	2	2	2	3	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:123313122T>A	uc004bkf.3	-	3	435	c.254A>T	c.(253-255)gAg>gTg	p.E85V	CDK5RAP2_uc004bkg.3_Missense_Mutation_p.E85V|CDK5RAP2_uc011lxw.2_5'UTR|CDK5RAP2_uc011lxx.2_Non-coding_Transcript|CDK5RAP2_uc011lxy.2_Non-coding_Transcript|CDK5RAP2_uc011lxz.2_5'UTR|CDK5RAP2_uc011lya.2_5'UTR|CDK5RAP2_uc004bkh.1_Missense_Mutation_p.E85V	NM_018249	NP_060719	Q96SN8	CK5P2_HUMAN	Homo sapiens CDK5 regulatory subunit associated protein 2 (CDK5RAP2), transcript variant 1, mRNA.	85					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CATTCTTTCCTCAAGGAAATA	0.383													A	123313122	T	A	123313122	3	1	159	1	0	0	0	0	1	0	0	0	3176	1551	54	5	5567	5	CDK5RAP2	9	123313122	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	8131928	123313122	17900309	65	11023											
TOR1A	1861	broad.mit.edu	37	chr9	132585088	132585088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgattttctttgcaagatgCtgtccaaagaggttgtcgtc	9	15	10	7	1	1	3	0	1	1	2	4	3	2	3	1	1	2	3	1	1	2	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr9:132585088C>T	uc004byl.3	-	1	293	c.216G>A	c.(214-216)caG>caA	p.Q72Q	TOR1A_uc004byn.3_Silent_p.Q72Q	NM_000113	NP_000104	O14656	TOR1A_HUMAN	Homo sapiens torsin family 1, member A (torsin A) (TOR1A), mRNA.	72					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				TTGCAAGATGCTGTCCAAAGA	0.483													T	132585088	C	T	132585088	2	4	159	1	0	0	0	0	0	0	0	1	16472	796	28	2		2	TOR1A	9	132585088	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	9271966	132585088	8628343	66	11024											
JMJD1C	221037	broad.mit.edu	37	chr10	64960280	64960282	+	In_Frame_Del	DEL	TTC	TTC	-																															aatactggtgagtgagctggTtcttctccttttttactgcg																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:64960280_64960282delTTC	uc001jmn.3	-	10	5530_5532	c.5230_5232delGAA	c.(5230-5232)gaadel	p.E1744del	JMJD1C_uc001jml.3_In_Frame_Del_p.E1525del|JMJD1C_uc001jmm.3_In_Frame_Del_p.E1456del|JMJD1C_uc010qiq.2_In_Frame_Del_p.E1562del|JMJD1C_uc009xpi.3_In_Frame_Del_p.E1562del|JMJD1C_uc009xpj.2_Intron|JMJD1C_uc009xpk.1_Intron	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1744					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					AGTGAGCTGGTTCTTCTCCTTTT	0.35													-	64960282	TTC	-	64960280	7	5	159	1	0	1	0	1	0	0	0	0	8008	1722	60	0	2454	0	JMJD1C	10	64960280	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08		64960280	70574467	67	11025											
CYP2E1	1571	broad.mit.edu	37	chr10	135351261	135351261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtttctcctagggcacaGtcgtagtgccaactctggac	7	13	10	11	1	2	0	0	0	2	0	4	1	2	1	2	2	2	3	2	2	3	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr10:135351261G>C	uc001lnj.1	+	7	1195	c.1162G>C	c.(1162-1164)Gtc>Ctc	p.V388L	CYP2E1_uc001lnk.1_Missense_Mutation_p.V251L|CYP2E1_uc009ybl.1_Missense_Mutation_p.V189L|CYP2E1_uc009ybm.1_Missense_Mutation_p.V42L|CYP2E1_uc001lnl.1_Missense_Mutation_p.V189L	NM_000773	NP_000764	P05181	CP2E1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily E, polypeptide 1 (CYP2E1), mRNA.	388					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	CTAGGGCACAGTCGTAGTGCC	0.398									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				C	135351261	G	C	135351261	3	2	159	1	0	0	0	0	1	0	0	0	4203	1029	36	4	1192	4	CYP2E1	10	135351261	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	70390981	135351261	183486	68	11026											
MUC5B	727897	broad.mit.edu	37	chr11	1257593	1257593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccacagggtcggcttccGgcagcgtctgcctcccctgc	3	7	14	17	3	1	0	0	0	1	0	4	0	3	0	5	4	3	2	5	4	0	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:1257593G>A	uc001lta.3	+						MUC5B_uc009yct.2_Intron	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.						cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTCGGCTTCCGGCAGCGTCTG	0.677													A	1257593	G	A	1257593	3	1	159	1	0	0	0	0	1	0	0	0	10055	1131	39	1		1	MUC5B	11	1257593	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		1257593	133748923	69	11027											
CHRNA10	57053	broad.mit.edu	37	chr11	3687783	3687783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatggtcatagtggccaTgtagtacttccctgcaagag	10	10	11	10	0	1	1	1	0	0	1	2	2	2	1	3	2	2	3	3	2	4	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:3687783T>C	uc001lyf.3	-	4	979	c.907A>G	c.(907-909)Atg>Gtg	p.M303V	CHRNA10_uc010qxt.2_Missense_Mutation_p.M97V|CHRNA10_uc010qxu.2_Missense_Mutation_p.M97V	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	303					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ATAGTGGCCATGTAGTACTTC	0.507													C	3687783	T	C	3687783	3	2	159	1	0	0	0	0	1	0	0	0	3412	1464	51	3	449	3	CHRNA10	11	3687783	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	2430190	3687783	131318733	70	11028											
CNGA4	1262	broad.mit.edu	37	chr11	6261617	6261617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtacctgggcttcgggcGtgacgcatgggtgtacccgg	4	8	17	12	5	0	1	0	1	0	0	1	1	0	1	3	5	2	4	3	5	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:6261617G>A	uc001mco.3	+	3	708	c.593G>A	c.(592-594)cGt>cAt	p.R198H	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.R158H	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	198					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCTTCGGGCGTGACGCATGG	0.547													A	6261617	G	A	6261617	3	1	159	1	0	0	0	0	1	0	0	0	3630	1145	40	1	607	1	CNGA4	11	6261617	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2573834	6261617	128744899	71	11029											
OR10A6	390093	broad.mit.edu	37	chr11	7950020	7950020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccacagataagttcaGgagaaacaggtacatgggaa	16	6	11	8	0	1	2	1	0	0	2	2	4	2	3	2	3	2	2	2	3	4	3	rs141585665		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:7950020G>A	uc010rbh.2	-	0	190	c.190C>T	c.(190-192)Ctg>Ttg	p.L64L		NM_001004461	NP_001004461	Q8NH74	O10A6_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 6 (OR10A6), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GATAAGTTCAGGAGAAACAGG	0.443													A	7950020	G	A	7950020	2	1	159	1	0	0	0	0	0	0	0	1	10970	991	35	2		2	OR10A6	11	7950020	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	1688403	7950020	127056496	72	11030											
SYT13	57586	broad.mit.edu	37	chr11	45268002	45268002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcagcaccaccaggaggCggttggcagccgggaggtag	10	5	16	10	2	1	0	1	0	0	0	1	2	1	2	3	6	2	4	3	6	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:45268002C>T	uc001myq.2	-	4	1034	c.908G>A	c.(907-909)cGc>cAc	p.R303H	SYT13_uc009yku.1_Missense_Mutation_p.R159H	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	303	C2 2.					transport vesicle		p.N302N(1)		breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CACCAGGAGGCGGTTGGCAGC	0.572													T	45268002	C	T	45268002	3	4	159	1	0	0	0	0	1	0	0	0	15566	768	27	1	380	1	SYT13	11	45268002	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	37317982	45268002	89738514	73	11031											
PSMC3	5702	broad.mit.edu	37	chr11	47446172	47446173	+	Frame_Shift_Del	DEL	TT	TT	-																															gctcacctgtcgtgtagaggTtttgatcacagcacacttgc																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:47446172_47446173delTT	uc001nfh.2	-	3	569_570	c.375_376delAA	c.(373-378)aaaaccfs	p.K125fs		NM_002804	NP_002795	P17980	PRS6A_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, ATPase, 3 (PSMC3), mRNA.	125					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity	p.K125N(2)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CGTGTAGAGGTTTTGATCACAG	0.545													-	47446173	TT	-	47446172	7	5	159	1	0	1	0	1	0	0	0	0	12772	1725	60	0	979	0	PSMC3	11	47446172	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08	2178170	47446172	87560344	74	11032											
SSRP1	6749	broad.mit.edu	37	chr11	57093935	57093937	+	In_Frame_Del	DEL	TTC	TTC	-																															ctggggggagtactggctagTtcttcttcttcagagtcctg																								rs142261788		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:57093935_57093937delTTC	uc001njt.3	-	16	2341_2343	c.2074_2076delGAA	c.(2074-2076)gaadel	p.E692del	TNKS1BP1_uc001njs.3_5'Flank|TNKS1BP1_uc009ymd.1_5'Flank	NM_003146	NP_003137	Q08945	SSRP1_HUMAN	Homo sapiens structure specific recognition protein 1 (SSRP1), mRNA.	692	Ser-rich.				DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						TACTGGCTAGTTCTTCTTCTTCA	0.552													-	57093937	TTC	-	57093935	7	5	159	1	0	1	0	1	0	0	0	0	15290	1722	60	0	57	0	SSRP1	11	57093935	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	9647763	57093935	77912581	75	11033											
ODZ4	26011	broad.mit.edu	37	chr11	78440577	78440577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgaggttgaaggggaTggtcgggtgggtgaggctga	7	10	20	4	1	1	4	1	4	0	0	2	5	1	5	0	7	0	2	0	7	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:78440577T>C	uc001ozl.4	-	21	3713	c.3250A>G	c.(3250-3252)Atc>Gtc	p.I1084V		NM_001098816	NP_001092286	Q6N022	TEN4_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 4 (Drosophila) (ODZ4), mRNA.	1084					signal transduction	integral to membrane				breast(4)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(45)|ovary(3)|pancreas(2)|prostate(4)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	95						TTGAAGGGGATGGTCGGGTGG	0.567													C	78440577	T	C	78440577	3	2	159	1	0	0	0	0	1	0	0	0	10913	1464	51	3	5111	3	ODZ4	11	78440577	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	21346642	78440577	56565939	76	11034											
TMEM126B	55863	broad.mit.edu	37	chr11	85342819	85342819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaatggtcatagaaatcaTagaaaaaaattttgactatc	19	11	5	6	0	2	3	2	1	0	2	3	3	2	3	1	1	0	0	1	1	8	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:85342819T>C	uc001pap.3	+	1	200	c.170T>C	c.(169-171)aTa>aCa	p.I57T	TMEM126B_uc001pan.2_Missense_Mutation_p.I27T|TMEM126B_uc001paq.2_Missense_Mutation_p.I57T|TMEM126B_uc001pao.3_Missense_Mutation_p.I27T|TMEM126B_uc021qog.1_Missense_Mutation_p.I37T|TMEM126B_uc021qoh.1_Intron	NM_018480	NP_060950	Q8IUX1	T126B_HUMAN	Homo sapiens transmembrane protein 126B (TMEM126B), transcript variant 1, mRNA.	57						integral to membrane				kidney(1)|large_intestine(2)|lung(3)|prostate(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ATAGAAATCATAGAAAAAAAT	0.353													C	85342819	T	C	85342819	3	2	159	1	0	0	0	0	1	0	0	0	16139	1406	49	3	82	3	TMEM126B	11	85342819	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	6902242	85342819	49663697	77	11035											
FOLH1B	219595	broad.mit.edu	37	chr11	89424051	89424054	+	Frame_Shift_Del	DEL	AAAC	AAAC	-																															tttgttattttttctgtaggAaacaaacaaattcagcggct																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:89424051_89424054delAAAC	uc001pda.3	+	10	1227_1230	c.701_704delAAAC	c.(700-705)gaaacafs	p.E234fs		NM_153696	NP_710163	Q9HBA9	FOH1B_HUMAN	Homo sapiens folate hydrolase 1B (FOLH1B), mRNA.	234					proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	p.T235I(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCTGTAGGAAACAAACAAATTC	0.319													-	89424054	AAAC	-	89424051	7	5	159	1	0	1	0	1	0	0	0	0	6029	260	9	0	735	0	FOLH1B	11	89424051	Frame_Shift_Del	DEL	AAAC	TCGA-19-2629-01A-01D-1495-08	4081232	89424051	45582465	78	11036											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840825	128840825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctccatcatcctggtggggGgcagtggtgcaggaaagcca	8	8	15	10	0	2	0	1	0	1	0	4	1	3	1	3	6	2	2	3	6	1	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr11:128840825G>C	uc009zcp.3	-	21	4241	c.4241C>G	c.(4240-4242)cCc>cGc	p.P1414R	ARHGAP32_uc009zcq.2_3'UTR|ARHGAP32_uc009zco.3_Missense_Mutation_p.P373R|ARHGAP32_uc001qez.3_Missense_Mutation_p.P1065R	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	1414	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CCTGGTGGGGGGCAGTGGTGC	0.592													C	128840825	G	C	128840825	3	2	159	1	0	0	0	0	1	0	0	0	884	1232	43	4	2026	4	ARHGAP32	11	128840825	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	39416774	128840825	6165691	79	11037											
KIAA1467	57613	broad.mit.edu	37	chr12	13208755	13208755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctggtgtcatatgtgcGcacgtctgtcttcctgctga	4	14	10	13	2	3	1	1	1	2	0	5	1	5	1	2	1	2	2	2	1	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:13208755G>A	uc001rbi.3	+	1	331	c.308G>A	c.(307-309)cGc>cAc	p.R103H		NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	103						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		TCATATGTGCGCACGTCTGTC	0.587													A	13208755	G	A	13208755	3	1	159	1	0	0	0	0	1	0	0	0	8293	1087	38	1	314	1	KIAA1467	12	13208755	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		13208755	120643140	80	11038											
HIST4H4	121504	broad.mit.edu	37	chr12	14923761	14923761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttcagcgcgtacaccacAtccatggccgtgacggtctt	7	10	10	14	5	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	1	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:14923761A>G	uc001rcf.4	-	0	305	c.258T>C	c.(256-258)gaT>gaC	p.D86D	HIST4H4_uc001rce.3_Non-coding_Transcript	NM_175054	NP_778224	P62805	H4_HUMAN	Homo sapiens histone cluster 4, H4 (HIST4H4), mRNA.	86					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)	6						CGTACACCACATCCATGGCCG	0.587											OREG0021698	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	14923761	A	G	14923761	2	3	159	1	0	0	0	0	0	0	0	1	7240	214	8	3		3	HIST4H4	12	14923761	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08	1715006	14923761	118928134	81	11039											
ARID2	196528	broad.mit.edu	37	chr12	46245922	46245923	+	Frame_Shift_Del	DEL	AG	AG	-																															gaatggagcatctgggaaacAgaactcagaacaaatagaca																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr12:46245922_46245923delAG	uc001ros.1	+	14	4016_4017	c.4016_4017delAG	c.(4015-4017)cagfs	p.Q1339fs	ARID2_uc001ror.3_Frame_Shift_Del_p.Q1339fs|ARID2_uc009zkg.1_Frame_Shift_Del_p.Q795fs|ARID2_uc009zkh.1_Frame_Shift_Del_p.Q966fs|ARID2_uc001rou.1_Frame_Shift_Del_p.Q673fs	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1339					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTGGGAAACAGAACTCAGAAC	0.371			"N, S, F"		hepatocellular carcinoma								-	46245923	AG	-	46245922	7	5	159	1	0	1	0	1	0	0	0	0	918	188	7	0	4074	0	ARID2	12	46245922	Frame_Shift_Del	DEL	AG	TCGA-19-2629-01A-01D-1495-08	31322161	46245922	87605973	82	11040											
FREM2	341640	broad.mit.edu	37	chr13	39425866	39425866	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaatttagtgtcactgaAcccaaagaacctggagagtc	15	8	8	10	0	1	3	1	1	0	2	2	4	1	3	3	1	2	0	3	1	5	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:39425866A>G	uc001uwv.3	+	10	7095	c.6786A>G	c.(6784-6786)gaA>gaG	p.E2262E	FREM2_uc001uww.3_Silent_p.E348E	NM_207361	NP_997244	Q5SZK8	FREM2_HUMAN	Homo sapiens FRAS1 related extracellular matrix protein 2 (FREM2), mRNA.	2262	Calx-beta 5.				cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGTCACTGAACCCAAAGAAC	0.398													G	39425866	A	G	39425866	2	3	159	1	0	0	0	0	0	0	0	1	6097	40	2	3		3	FREM2	13	39425866	Silent	SNP	A	TCGA-19-2629-01A-01D-1495-08		39425866	75744012	83	11041											
AKAP11	11215	broad.mit.edu	37	chr13	42877884	42877884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgagcgagagctgagcAgtaccagcctggcagccgac	11	4	14	12	2	0	3	0	2	0	1	0	5	0	3	3	1	7	5	3	1	2	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:42877884A>G	uc001uys.2	+	7	5177	c.5002A>G	c.(5002-5004)Agt>Ggt	p.S1668G		NM_016248	NP_057332	Q9UKA4	AKA11_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 11 (AKAP11), mRNA.	1668					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		AGAGCTGAGCAGTACCAGCCT	0.507													G	42877884	A	G	42877884	3	3	159	1	0	0	0	0	1	0	0	0	447	188	7	3	5024	3	AKAP11	13	42877884	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	3452018	42877884	72291994	84	11042											
RCBTB2	1102	broad.mit.edu	37	chr13	49089796	49089796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctgacgaattaactgtaGttcttcttcagaacaaaggg	13	11	9	8	1	3	2	1	1	2	1	3	3	3	2	1	1	3	2	1	1	5	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr13:49089796G>C	uc010tgg.2	-	3	430	c.139C>G	c.(139-141)Cta>Gta	p.L47V	RCBTB2_uc001vci.3_Missense_Mutation_p.L18V|RCBTB2_uc010tgh.2_5'UTR|RCBTB2_uc001vch.3_Missense_Mutation_p.L42V|RCBTB2_uc001vcj.3_Missense_Mutation_p.L46V|RCBTB2_uc010acv.1_Non-coding_Transcript|RCBTB2_uc010tgi.1_Missense_Mutation_p.L18V	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	42							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ATTAACTGTAGTTCTTCTTCA	0.363													C	49089796	G	C	49089796	3	2	159	1	0	0	0	0	1	0	0	0	13260	1020	36	4	1575	4	RCBTB2	13	49089796	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	6211912	49089796	66080082	85	11043											
RNASE4	6038	broad.mit.edu	37	chr14	21167918	21167918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatagcgagcactagaCgtgttgtcattgcctgtgag	8	10	14	9	2	1	2	1	1	0	1	1	3	1	2	2	1	3	2	2	1	2	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:21167918C>T	uc021rol.1	+	0	388	c.388C>T	c.(388-390)Cgt>Tgt	p.R130C	RNASE4_uc001vxy.4_Missense_Mutation_p.R130C|RNASE4_uc001vxx.4_Non-coding_Transcript|RNASE4_uc001vya.3_Missense_Mutation_p.R130C	NM_194431	NP_919412	P34096	RNAS4_HUMAN	Homo sapiens ribonuclease, RNase A family, 4 (RNASE4), transcript variant 3, mRNA.	130					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		GAGCACTAGACGTGTTGTCAT	0.527													T	21167918	C	T	21167918	3	4	159	1	0	0	0	0	1	0	0	0	13497	536	19	1	390	1	RNASE4	14	21167918	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		21167918	86181622	86	11044											
GMPR2	51292	broad.mit.edu	37	chr14	24707579	24707581	+	In_Frame_Del	DEL	GAA	GAA	-																															atgagttctgaaatggccatGaagaagtatgctgggggcgt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr14:24707579_24707581delGAA	uc001wnr.3	+	8	1207_1209	c.825_827delGAA	c.(823-828)atgaag>atg	p.K277del	GMPR2_uc001wnu.2_In_Frame_Del_p.K241del|GMPR2_uc001wns.3_In_Frame_Del_p.K277del|GMPR2_uc001wnv.3_In_Frame_Del_p.K114del|GMPR2_uc010alk.1_In_Frame_Del_p.K277del|GMPR2_uc001wnw.3_In_Frame_Del_p.K277del|GMPR2_uc001wnx.3_In_Frame_Del_p.K295del|GMPR2_uc010all.3_In_Frame_Del_p.K249del|GMPR2_uc010toe.1_In_Frame_Del_p.K277del	NM_001002001	NP_001002002	Q9P2T1	GMPR2_HUMAN	Homo sapiens guanosine monophosphate reductase 2 (GMPR2), transcript variant 3, mRNA.	277					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		AAATGGCCATGAAGAAGTATGCT	0.537													-	24707581	GAA	-	24707579	7	5	159	1	0	1	0	1	0	0	0	0	6553	1290	45	0	909	0	GMPR2	14	24707579	In_Frame_Del	DEL	GAA	TCGA-19-2629-01A-01D-1495-08	3539661	24707579	82641961	87	11045											
DUOX2	50506	broad.mit.edu	37	chr15	45401132	45401132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtctgtacgggagaatttgCcagggccaggccagtaatct	10	9	13	9	1	2	1	0	0	2	1	2	2	2	1	3	3	2	2	3	3	3	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:45401132C>T	uc001zun.3	-	11	1456	c.1253G>A	c.(1252-1254)gGc>gAc	p.G418D	DUOX2_uc010bea.3_Missense_Mutation_p.G418D	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	418	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGAGAATTTGCCAGGGCCAGG	0.552													T	45401132	C	T	45401132	3	4	159	1	0	0	0	0	1	0	0	0	4840	739	26	2	3485	2	DUOX2	15	45401132	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		45401132	57130260	88	11046											
ALDH1A2	8854	broad.mit.edu	37	chr15	58256142	58256142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactacgcgcctcttggcccGctccacgcttcttctcacaa	6	10	6	19	4	3	0	1	0	3	0	5	0	4	0	3	1	1	2	3	1	2	4	rs137957671		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:58256142G>A	uc002aex.3	-	8	1300	c.1027C>T	c.(1027-1029)Cgg>Tgg	p.R343W	ALDH1A2_uc010ugv.2_Missense_Mutation_p.R322W|ALDH1A2_uc002aey.3_Missense_Mutation_p.R305W|ALDH1A2_uc010ugw.2_Missense_Mutation_p.R314W|ALDH1A2_uc002aew.3_Missense_Mutation_p.R247W	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	343					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CTCTTGGCCCGCTCCACGCTT	0.527													A	58256142	G	A	58256142	3	1	159	1	0	0	0	0	1	0	0	0	491	1086	38	1	549	1	ALDH1A2	15	58256142	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	12855010	58256142	44275250	89	11047											
SCAPER	49855	broad.mit.edu	37	chr15	77059334	77059336	+	In_Frame_Del	DEL	TTC	TTC	-																															tcaatttctctagttaactgTtcttcttcagcaatagcact																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:77059334_77059336delTTC	uc002bby.3	-	9	1401_1403	c.1342_1344delGAA	c.(1342-1344)gaadel	p.E448del	SCAPER_uc002bbx.3_In_Frame_Del_p.E202del|SCAPER_uc002bbz.1_In_Frame_Del_p.E319del|SCAPER_uc002bca.1_In_Frame_Del_p.E313del|SCAPER_uc002bcb.1_In_Frame_Del_p.E454del|SCAPER_uc002bcc.1_In_Frame_Del_p.E448del	NM_020843	NP_065894	Q9BY12	SCAPE_HUMAN	Homo sapiens S-phase cyclin A-associated protein in the ER (SCAPER), transcript variant 1, mRNA.	447	Glu-rich.					endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						TAGTTAACTGTTCTTCTTCAGCA	0.355													-	77059336	TTC	-	77059334	7	5	159	1	0	1	0	1	0	0	0	0	13970	1722	60	0	2946	0	SCAPER	15	77059334	In_Frame_Del	DEL	TTC	TCGA-19-2629-01A-01D-1495-08	18803192	77059334	25472058	90	11048											
SLC28A1	9154	broad.mit.edu	37	chr15	85476431	85476431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccccttgtgccttggCcctctccaagctggtctacc	3	11	10	17	0	2	0	0	0	2	0	3	0	2	0	6	3	4	2	6	3	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr15:85476431C>T	uc002blg.3	+	12	1341	c.1139C>T	c.(1138-1140)gCc>gTc	p.A380V	SLC28A1_uc010bnb.3_Missense_Mutation_p.A380V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A380V|SLC28A1_uc010upg.1_Missense_Mutation_p.A380V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	380					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGTGCCTTGGCCCTCTCCAAG	0.562													T	85476431	C	T	85476431	3	4	159	1	0	0	0	0	1	0	0	0	14625	739	26	2	1252	2	SLC28A1	15	85476431	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	8417097	85476431	17054961	91	11049											
MVP	9961	broad.mit.edu	37	chr16	29855969	29855969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccataagaactcagcccGcatcattcgcactgctgtct	9	11	6	15	2	3	1	2	0	1	1	5	1	4	1	2	0	3	3	2	0	2	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:29855969G>A	uc002dui.3	+	10	1942	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R597H|MVP_uc010vea.2_Missense_Mutation_p.R191H	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	597					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						AACTCAGCCCGCATCATTCGC	0.617													A	29855969	G	A	29855969	3	1	159	1	0	0	0	0	1	0	0	0	10072	1087	38	1	1828	1	MVP	16	29855969	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		29855969	60498784	92	11050											
MT1A	4489	broad.mit.edu	37	chr16	56673190	56673190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtggctcctgcaccTgcactggctcctgcaaatgc	6	10	11	14	0	0	0	0	0	0	0	2	0	2	0	3	3	5	6	3	3	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56673190T>C	uc002ejq.3	+	1	116	c.43T>C	c.(43-45)Tgc>Cgc	p.C15R	MT1A_uc002eji.3_Intron	NM_005946	NP_005937	P04731	MT1A_HUMAN	Homo sapiens metallothionein 1A (MT1A), mRNA.	15	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)	3						CTCCTGCACCTGCACTGGCTC	0.512													C	56673190	T	C	56673190	3	2	159	1	0	0	0	0	1	0	0	0	9973	1580	55	3	49	3	MT1A	16	56673190	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	26817221	56673190	33681563	93	11051											
SLC12A3	6559	broad.mit.edu	37	chr16	56901059	56901059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatgggctggtggagggCgaggcaggcaccagcagcga	9	4	19	9	2	0	1	0	1	0	0	0	4	0	2	1	6	2	4	1	6	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:56901059C>T	uc002ekd.4	+	1	389	c.360C>T	c.(358-360)ggC>ggT	p.G120G	SLC12A3_uc010ccm.3_Silent_p.G120G|SLC12A3_uc010ccn.3_Silent_p.G119G	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	120					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TGGTGGAGGGCGAGGCAGGCA	0.652													T	56901059	C	T	56901059	2	4	159	1	0	0	0	0	0	0	0	1	14478	755	27	1		1	SLC12A3	16	56901059	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	227869	56901059	33453694	94	11052											
CNOT1	23019	broad.mit.edu	37	chr16	58562381	58562385	+	Frame_Shift_Del	DEL	TTAGA	TTAGA	-																															aactagttggaaccttacctTtagattaggagtgaatgggt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr16:58562381_58562385delTTAGA	uc002env.3	-	43	6740_6744	c.6447_6451delTCTAA	c.(6445-6453)aatctaaagfs	p.N2149fs	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Frame_Shift_Del_p.N2144fs|CNOT1_uc002ent.3_Frame_Shift_Del_p.N87fs|CNOT1_uc010vik.2_Frame_Shift_Del_p.N1106fs	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	2149					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AACCTTACCTTTAGATTAGGAGTGA	0.4													-	58562385	TTAGA	-	58562381	7	5	159	1	0	1	0	1	0	0	0	0	3648	1850	64	0	703	0	CNOT1	16	58562381	Frame_Shift_Del	DEL	TTAGA	TCGA-19-2629-01A-01D-1495-08	1661322	58562381	31792372	95	11053											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching 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 -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552		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)			T	7578555	C	T	7578555	5	4	159	1	0	0	0	0	0	0	1	0	16482	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-19-2629-01A-01D-1495-08		7578555	73616655	96	11054											
MYH4	4622	broad.mit.edu	37	chr17	10350506	10350506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcatcttggcctctgaTggcatcatccaaatgtagct	10	12	9	10	0	4	1	2	1	2	0	5	1	5	1	2	3	1	3	2	3	3	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10350506T>A	uc002gmn.3	-	34	5104	c.4993A>T	c.(4993-4995)Atc>Ttc	p.I1665F	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1665					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGGCCTCTGATGGCATCATCC	0.468													A	10350506	T	A	10350506	3	1	159	1	0	0	0	0	1	0	0	0	10113	1464	51	5	850	5	MYH4	17	10350506	Missense_Mutation	SNP	T	TCGA-19-2629-01A-01D-1495-08	2771951	10350506	70844704	97	11055											
MYH1	4619	broad.mit.edu	37	chr17	10395868	10395868	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggaatttggagaggttGacgttggattgttcctcctg	6	14	14	7	2	0	2	0	1	0	1	2	5	2	4	2	4	1	3	2	4	1	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:10395868G>T	uc002gmo.3	-	39	5779	c.5685C>A	c.(5683-5685)gtC>gtA	p.V1895V	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1895						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGAGAGGTTGACGTTGGATT	0.473													T	10395868	G	T	10395868	2	4	159	1	0	0	0	0	0	0	0	1	10105	1277	45	4		4	MYH1	17	10395868	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	45362	10395868	70799342	98	11056											
DNAH9	1770	broad.mit.edu	37	chr17	11757746	11757749	+	Splice_Site	DEL	GTGA	GTGA	-																															ccatcaaagccaagatcgctGtgagtgaccccagagcccct																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:11757746_11757749delGTGA	uc002gne.3	+	50	10001	c.9933_splice	c.e50+1	p.A3311_splice	DNAH9_uc010coo.3_Splice_Site_p.A2605_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	3311	Stalk (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAAGATCGCTGTGAGTGACCCCAG	0.544													-	11757749	GTGA	-	11757746	8	5	159	1	0	1	0	1	0	0	1	0	4647	1391	48	0	10132	0	DNAH9	17	11757746	Splice_Site	DEL	GTGA	TCGA-19-2629-01A-01D-1495-08	1361878	11757746	69437464	99	11057											
FAM83G	644815	broad.mit.edu	37	chr17	18906958	18906958	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgtcgggccagcccaGgtccagctgcgggatggagc	6	6	18	11	2	0	0	0	0	0	0	2	3	1	2	3	5	4	1	3	5	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:18906958G>A	uc002guw.3	-	1	564	c.397C>T	c.(397-399)Ctg>Ttg	p.L133L	SLC5A10_uc002gur.1_Intron|SLC5A10_uc002guu.1_Intron|SLC5A10_uc002gut.1_Intron|SLC5A10_uc002guv.1_Intron|SLC5A10_uc010vyl.1_Intron	NM_001039999	NP_001035088	A6ND36	FA83G_HUMAN	Homo sapiens family with sequence similarity 83, member G (FAM83G), mRNA.	133										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGCCAGCCCAGGTCCAGCTGC	0.701													A	18906958	G	A	18906958	2	1	159	1	0	0	0	0	0	0	0	1	5689	991	35	2		2	FAM83G	17	18906958	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	7149212	18906958	62288252	100	11058											
ACACA	31	broad.mit.edu	37	chr17	35564699	35564701	+	In_Frame_Del	DEL	GGA	GGA	-																															atgccatagtggttgaggttGgaggagaaggacattctaaa																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:35564699_35564701delGGA	uc002hnm.3	-	30	3801_3803	c.3610_3612delTCC	c.(3610-3612)tccdel	p.S1204del	ACACA_uc002hnk.3_In_Frame_Del_p.S1126del|ACACA_uc002hnl.3_In_Frame_Del_p.S1146del|ACACA_uc002hnn.3_In_Frame_Del_p.S1204del|ACACA_uc002hno.3_In_Frame_Del_p.S1241del|ACACA_uc010cuy.3_5'Flank	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	1204					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GGTTGAGGTTGGAGGAGAAGGAC	0.473													-	35564701	GGA	-	35564699	7	5	159	1	0	1	0	1	0	0	0	0	106	1335	47	0	3532	0	ACACA	17	35564699	In_Frame_Del	DEL	GGA	TCGA-19-2629-01A-01D-1495-08	16657741	35564699	45630511	101	11059											
SGSH	6448	broad.mit.edu	37	chr17	78185892	78185892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggctcacgtaggcctcGctgacttggccccagcgttt	6	9	13	13	3	1	1	1	1	0	0	2	2	1	2	3	4	1	4	3	4	1	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr17:78185892G>A	uc002jxz.4	-	6	1014	c.927C>T	c.(925-927)agC>agT	p.S309S	SGSH_uc002jya.4_Silent_p.S106S|SGSH_uc002jxy.2_3'UTR|SGSH_uc010wue.1_3'UTR	NM_000199	NP_000190	P51688	SPHM_HUMAN	Homo sapiens N-sulfoglucosamine sulfohydrolase (SGSH), mRNA.	309					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CGTAGGCCTCGCTGACTTGGC	0.617													A	78185892	G	A	78185892	2	1	159	1	0	0	0	0	0	0	0	1	14314	1078	38	1		1	SGSH	17	78185892	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08	42621193	78185892	3009318	102	11060											
SETBP1	26040	broad.mit.edu	37	chr18	42533090	42533090	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggactcatgcacgaaaaGatactctggcagtggcgggg	10	8	15	8	2	2	1	1	0	1	1	2	3	2	2	0	5	2	2	0	5	3	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:42533090G>C	uc010dni.3	+	3	4081	c.3785G>C	c.(3784-3786)aGa>aCa	p.R1262T		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	1262						nucleus	DNA binding	p.R1208K(1)|p.A1262A(1)		NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGCACGAAAAGATACTCTGGC	0.537									Schinzel-Giedion syndrome				C	42533090	G	C	42533090	3	2	159	1	0	0	0	0	1	0	0	0	14222	942	33	4	3988	4	SETBP1	18	42533090	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		42533090	35544158	103	11061											
MYO5B	4645	broad.mit.edu	37	chr18	47479673	47479674	+	Frame_Shift_Del	DEL	TC	TC	-																															tctgctcttcatacaccgtgTctctgtttttctccagaaaa																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:47479673_47479674delTC	uc002leb.2	-	13	1996_1997	c.1708_1709delGA	c.(1708-1710)gacfs	p.D570fs	MYO5B_uc021ukb.1_Frame_Shift_Del_p.D569fs	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	570	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATACACCGTGTCTCTGTTTTTC	0.52													-	47479674	TC	-	47479673	7	5	159	1	0	1	0	1	0	0	0	0	10155	1667	58	0	3945	0	MYO5B	18	47479673	Frame_Shift_Del	DEL	TC	TCGA-19-2629-01A-01D-1495-08	4946583	47479673	30597575	104	11062											
ZNF407	55628	broad.mit.edu	37	chr18	72343319	72343319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgaaacagggaaggagaCctttctgagtgactgcacag	14	7	13	7	0	1	5	0	3	1	2	1	7	1	6	1	2	2	1	1	2	2	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr18:72343319C>A	uc002llw.2	+	0	397	c.344C>A	c.(343-345)aCc>aAc	p.T115N	ZNF407_uc010xfc.2_Missense_Mutation_p.T115N|ZNF407_uc010dqu.2_Missense_Mutation_p.T115N|ZNF407_uc002llu.2_Missense_Mutation_p.T114N	NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGGAAGGAGACCTTTCTGAGT	0.443													A	72343319	C	A	72343319	3	1	159	1	0	0	0	0	1	0	0	0	17988	507	18	4	346	4	ZNF407	18	72343319	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	24863646	72343319	5733929	105	11063											
ELANE	1991	broad.mit.edu	37	chr19	855979	855979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggactccggcagccccttgGtctgcaacgggctaatccac	7	7	12	15	2	1	0	0	0	1	0	3	1	3	1	4	4	3	3	4	4	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:855979G>A	uc002lqb.3	+	4	657	c.619G>A	c.(619-621)Gtc>Atc	p.V207I		NM_001972	NP_001963	P08246	ELNE_HUMAN	Homo sapiens elastase, neutrophil expressed (ELANE), mRNA.	207	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CAGCCCCTTGGTCTGCAACGG	0.657													A	855979	G	A	855979	3	1	159	1	0	0	0	0	1	0	0	0	5089	1261	44	2	637	2	ELANE	19	855979	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		855979	58273004	106	11064											
TMIGD2	126259	broad.mit.edu	37	chr19	4298041	4298042	+	Frame_Shift_Del	DEL	TA	TA	-																															tcctccaactcaggaatctcTacggccgcccagcacacgta																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:4298041_4298042delTA	uc002lzx.2	-	1	393_394	c.347_348delTA	c.(346-348)gtafs	p.V116fs	TMIGD2_uc021umz.1_Intron|TMIGD2_uc021una.1_Intron|TMIGD2_uc010dtv.2_Frame_Shift_Del_p.V116fs	NM_144615	NP_653216	Q96BF3	TMIG2_HUMAN	Homo sapiens transmembrane and immunoglobulin domain containing 2 (TMIGD2), transcript variant 1, mRNA.	116	Ig-like.					integral to membrane		p.A115A(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(2)	19				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAATCTCTACGGCCGCCCA	0.653													-	4298042	TA	-	4298041	7	5	159	1	0	1	0	1	0	0	0	0	16331	1509	53	0	516	0	TMIGD2	19	4298041	Frame_Shift_Del	DEL	TA	TCGA-19-2629-01A-01D-1495-08	3442062	4298041	54830942	107	11065											
TRIP10	9322	broad.mit.edu	37	chr19	6751206	6751206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgcccacctcctacctccGagtcacgctcaattgaaccc	8	8	6	19	3	2	1	2	1	0	0	4	2	4	1	6	0	3	1	6	0	3	2	rs139028261		TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:6751206G>A	uc002mfs.3	+	14	1856	c.1790G>A	c.(1789-1791)cGa>cAa	p.R597Q	TRIP10_uc010dux.2_Missense_Mutation_p.E551K|TRIP10_uc002mfr.3_Missense_Mutation_p.R541Q|TRIP10_uc010duy.3_Non-coding_Transcript	NM_004240	NP_004231	Q15642	CIP4_HUMAN	Homo sapiens thyroid hormone receptor interactor 10 (TRIP10), mRNA.	597	Interaction with ARHGAP17, DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1 and WASL.|Interaction with PDE6G (By similarity).|Interaction with WAS.|Required for interaction with FASLG and localization to lysosomes.|Required for podosome formation.|SH3.				actin cytoskeleton organization|cell communication|endocytosis|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell projection|cytoskeleton|cytosol|Golgi apparatus|lysosome|perinuclear region of cytoplasm|phagocytic cup	GTPase activator activity|identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	16						TCCTACCTCCGAGTCACGCTC	0.612													A	6751206	G	A	6751206	3	1	159	1	0	0	0	0	1	0	0	0	16655	1058	37	1	1676	1	TRIP10	19	6751206	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2453165	6751206	52377777	108	11066											
C19orf43	79002	broad.mit.edu	37	chr19	12841881	12841881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcacctttacttgttaatAcctgtggaaaggggatacgg	10	12	11	8	2	1	0	1	0	0	0	1	2	1	2	2	4	3	1	2	4	5	6			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:12841881A>G	uc002muu.3	-	3	482	c.424_splice	c.e3-1	p.V142_splice		NM_024038	NP_076943	Q9BQ61	CS043_HUMAN	Homo sapiens chromosome 19 open reading frame 43 (C19orf43), mRNA.	142										endometrium(2)|large_intestine(2)	4						ACTTGTTAATACCTGTGGAAA	0.547													G	12841881	A	G	12841881	3	3	159	1	0	0	0	0	1	0	0	0	1945	405	14	3	109	3	C19orf43	19	12841881	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	6090675	12841881	46287102	109	11067											
CYP4F12	66002	broad.mit.edu	37	chr19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagggcgggctttggctgCgggtggagcccctgaatgta	5	8	18	10	3	0	1	0	1	0	0	0	3	0	2	3	5	2	3	3	5	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:15807863C>T	uc002nbl.3	+	12	1662	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W		NM_023944	NP_076433			Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 12 (CYP4F12), mRNA.											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTTTGGCTGCGGGTGGAGCC	0.567													T	15807863	C	T	15807863	3	4	159	1	0	0	0	0	1	0	0	0	4220	759	27	1	1589	1	CYP4F12	19	15807863	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	2965982	15807863	43321120	110	11068											
USP29	57663	broad.mit.edu	37	chr19	57641232	57641232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaaatgccactttgaatActgggaaagaatgtggggat	15	11	11	4	0	0	2	0	1	0	1	0	4	0	4	1	3	2	0	1	3	7	3			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr19:57641232A>G	uc002qny.3	+	3	1545	c.1189A>G	c.(1189-1191)Act>Gct	p.T397A	USP29_uc021vci.1_Missense_Mutation_p.T397A	NM_020903	NP_065954	Q9HBJ7	UBP29_HUMAN	Homo sapiens ubiquitin specific peptidase 29 (USP29), mRNA.	397					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACTTTGAATACTGGGAAAGA	0.383													G	57641232	A	G	57641232	3	3	159	1	0	0	0	0	1	0	0	0	17161	391	14	3	1191	3	USP29	19	57641232	Missense_Mutation	SNP	A	TCGA-19-2629-01A-01D-1495-08	41833369	57641232	1487751	111	11069											
MYH7B	57644	broad.mit.edu	37	chr20	33572918	33572918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggaagctggcatccgCggatattgacagctgtgagt	8	10	14	9	2	1	2	0	2	1	0	2	4	2	4	1	3	2	3	1	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:33572918C>T	uc002xbi.2	+	12	1234	c.917C>T	c.(916-918)gCg>gTg	p.A306V		NM_020884	NP_065935	A7E2Y1	MYH7B_HUMAN	Homo sapiens myosin, heavy chain 7B, cardiac muscle, beta (MYH7B), mRNA.	264	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CTGGCATCCGCGGATATTGAC	0.642													T	33572918	C	T	33572918	3	4	159	1	0	0	0	0	1	0	0	0	10116	768	27	1	959	1	MYH7B	20	33572918	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08		33572918	29452602	112	11070											
PTPRT	11122	broad.mit.edu	37	chr20	40911144	40911144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataccttttgtagccagacGaacacagttgattttggtct	10	14	8	9	1	1	2	0	1	1	1	1	3	1	2	2	1	3	2	2	1	3	7			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr20:40911144G>A	uc002xkg.3	-	12	2345	c.2161C>T	c.(2161-2163)Cgt>Tgt	p.R721C	PTPRT_uc010ggj.3_Missense_Mutation_p.R721C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	721	Fibronectin type-III 4.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.R721H(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				GTAGCCAGACGAACACAGTTG	0.348													A	40911144	G	A	40911144	3	1	159	1	0	0	0	0	1	0	0	0	12900	1058	37	1	2301	1	PTPRT	20	40911144	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	7338226	40911144	22114376	113	11071											
KCNE1	3753	broad.mit.edu	37	chr21	35821746	35821746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggagcggatgtagctcaGcatgatgcccagggtgaaga	10	8	15	8	1	1	3	1	2	0	1	1	5	1	5	1	3	4	3	1	3	2	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:35821746G>T	uc021wit.1	-	0	187	c.187C>A	c.(187-189)Ctg>Atg	p.L63M	KCNE1_uc010gmp.3_Missense_Mutation_p.L63M|KCNE1_uc002ytz.3_Missense_Mutation_p.L63M|KCNE1_uc010gmq.3_Missense_Mutation_p.L63M|KCNE1_uc010gmr.3_Missense_Mutation_p.L63M|KCNE1_uc010gms.3_Missense_Mutation_p.L63M|KCNE1_uc002yua.3_Non-coding_Transcript	NM_001127670	NP_001121142	P15382	KCNE1_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 1 (KCNE1), transcript variant 1, mRNA.	63					blood circulation|membrane depolarization|muscle contraction|sensory perception of sound	lysosome	delayed rectifier potassium channel activity|potassium channel regulator activity			large_intestine(4)|lung(1)|ovary(2)	7					Indapamide(DB00808)	ATGTAGCTCAGCATGATGCCC	0.592													T	35821746	G	T	35821746	3	4	159	1	0	0	0	0	1	0	0	0	8079	962	34	4	206	4	KCNE1	21	35821746	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08		35821746	12308149	114	11072											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971183	45971183	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcagcaggggctggaCacacagctcactggggtgca	8	5	16	12	0	1	0	1	0	0	0	1	1	1	1	1	6	3	5	1	6	0	0			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr21:45971183C>G	uc002zfi.1	-	0	206	c.159G>C	c.(157-159)gtG>gtC	p.V53V	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	53	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGGGGCTGGACACACAGCTCA	0.697													G	45971183	C	G	45971183	2	3	159	1	0	0	0	0	0	0	0	1	8567	465	17	4		4	KRTAP10-2	21	45971183	Silent	SNP	C	TCGA-19-2629-01A-01D-1495-08	10149437	45971183	2158712	115	11073											
OSBP2	23762	broad.mit.edu	37	chr22	31137202	31137202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatcaacctgtccaccgcGcacattgacacggaggactc	11	6	8	16	3	1	1	1	1	0	0	3	3	2	3	4	2	1	1	4	2	1	1			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:31137202G>A	uc003aiy.1	+	1	803	c.699G>A	c.(697-699)gcG>gcA	p.A233A	OSBP2_uc011ala.1_Silent_p.A68A|OSBP2_uc010gwc.1_Silent_p.A60A|OSBP2_uc003aix.1_Silent_p.A233A|OSBP2_uc011alb.1_Silent_p.A233A|OSBP2_uc003aiz.1_Silent_p.A233A	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	233	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTCCACCGCGCACATTGACA	0.557													A	31137202	G	A	31137202	2	1	159	1	0	0	0	0	0	0	0	1	11350	1074	38	1		1	OSBP2	22	31137202	Silent	SNP	G	TCGA-19-2629-01A-01D-1495-08		31137202	20167364	116	11074											
TMPRSS6	164656	broad.mit.edu	37	chr22	37492125	37492125	+	Frame_Shift_Del	DEL	C	C	-																															agaagaagcaggtgaggggtCcctccctaaggcaggcagaa																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37492125delC	uc003aqt.1	-	4	472	c.410delG	c.(409-411)ggafs	p.G137fs	TMPRSS6_uc003aqs.1_Frame_Shift_Del_p.G146fs|TMPRSS6_uc003aqu.3_Frame_Shift_Del_p.G137fs	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	146					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGTGAGGGGTCCCTCCCTAAG	0.622													-	37492125	C	-	37492125	7	5	159	1	0	1	0	1	0	0	0	0	16351	855	30	0	2054	0	TMPRSS6	22	37492125	Frame_Shift_Del	DEL	C	TCGA-19-2629-01A-01D-1495-08	6354923	37492125	13812441	117	11075											
CYTH4	27128	broad.mit.edu	37	chr22	37707507	37707507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgtaggacaaggagcCacggggaattatacctcttg	10	10	11	10	1	1	0	0	0	1	0	2	3	2	3	3	4	2	1	3	4	5	5			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:37707507C>T	uc003arf.3	+	10	1012	c.896C>T	c.(895-897)cCa>cTa	p.P299L	CYTH4_uc011amw.2_Missense_Mutation_p.P242L	NM_013385	NP_037517	Q9UIA0	CYH4_HUMAN	Homo sapiens cytohesin 4 (CYTH4), mRNA.	299	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GACAAGGAGCCACGGGGAATT	0.582													T	37707507	C	T	37707507	3	4	159	1	0	0	0	0	1	0	0	0	4239	594	21	2	938	2	CYTH4	22	37707507	Missense_Mutation	SNP	C	TCGA-19-2629-01A-01D-1495-08	215382	37707507	13597059	118	11076											
DDX17	10521	broad.mit.edu	37	chr22	38890068	38890069	+	Frame_Shift_Del	DEL	TT	TT	-																															tcagatcatcacagcgtctcTttgtctccacaaatattatt																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:38890068_38890069delTT	uc003avy.4	-	8	1385_1386	c.1282_1283delAA	c.(1282-1284)aagfs	p.K428fs	DDX17_uc003avx.4_Frame_Shift_Del_p.K428fs|DDX17_uc011anu.2_Frame_Shift_Del_p.K341fs	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	349	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					ACAGCGTCTCTTTGTCTCCACA	0.386													-	38890069	TT	-	38890068	7	5	159	1	0	1	0	1	0	0	0	0	4378	1609	56	0	932	0	DDX17	22	38890068	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08	1182561	38890068	12414498	119	11077											
MCHR1	2847	broad.mit.edu	37	chr22	41077826	41077826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgctctgtgagacgttccGcaaacgcttggtcctgtcgg	5	11	13	12	5	1	1	0	1	1	1	4	2	3	1	2	2	2	4	2	2	1	2			TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chr22:41077826G>A	uc003ayz.3	+	1	1431	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	MCHR1_uc003aza.3_Missense_Mutation_p.R277H|HV452684_uc003azb.1_Non-coding_Transcript	NM_005297	NP_005288	Q99705	MCHR1_HUMAN	Homo sapiens melanin-concentrating hormone receptor 1 (MCHR1), mRNA.	388					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GAGACGTTCCGCAAACGCTTG	0.572													A	41077826	G	A	41077826	3	1	159	1	0	0	0	0	1	0	0	0	9457	1087	38	1	1169	1	MCHR1	22	41077826	Missense_Mutation	SNP	G	TCGA-19-2629-01A-01D-1495-08	2187758	41077826	10226740	120	11078											
ATRX	546	broad.mit.edu	37	chrX	76939674	76939675	+	Frame_Shift_Del	DEL	TT	TT	-																															ttggctgtggtctcaatcagTttttttgccttcttaatcat																										TCGA-19-2629-01A-01D-1495-08	TCGA-19-2629-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56ffaa35-814c-4c0b-b3c6-d4514d34fec2	99337ac4-6bcf-4258-81aa-23c5f807ac5f	g.chrX:76939674_76939675delTT	uc004ecp.4	-	8	1305_1306	c.1073_1074delAA	c.(1072-1074)aaafs	p.K358fs	ATRX_uc004ecq.4_Frame_Shift_Del_p.K320fs|ATRX_uc004eco.4_Frame_Shift_Del_p.K143fs|ATRX_uc004ecr.2_Frame_Shift_Del_p.K319fs|ATRX_uc010nlx.1_Frame_Shift_Del_p.K358fs|ATRX_uc010nly.1_Frame_Shift_Del_p.K303fs	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	358					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)	TCTCAATCAGTTTTTTTGCCTT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939675	TT	-	76939674	7	5	159	1	0	1	0	1	0	0	0	0	1213	1722	60	0	6512	0	ATRX	23	76939674	Frame_Shift_Del	DEL	TT	TCGA-19-2629-01A-01D-1495-08		76939674	78330886	121	11079											
SEPN1	57190	broad.mit.edu	37	chr1	26140414	26140414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgtcctggaaagttcgcCcatcctcaccctgctcaacg	8	9	8	16	2	2	0	2	0	0	0	5	2	4	1	4	1	2	2	4	1	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:26140414C>A	uc021ojk.1	+	10	1485	c.1430C>A	c.(1429-1431)cCc>cAc	p.P477H	SEPN1_uc021ojl.1_Missense_Mutation_p.P443H	NM_020451	NP_065184	Q9NZV5	SELN_HUMAN	Homo sapiens selenoprotein N, 1 (SEPN1), transcript variant 1, mRNA.	477						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTCGCCCATCCTCACC	0.612													A	26140414	C	A	26140414	3	1	160	1	0	0	0	0	1	0	0	0	14149	623	22	4	1472	4	SEPN1	1	26140414	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		26140414	223110207	1	11080											
NTNG1	22854	broad.mit.edu	37	chr1	107867040	107867040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttggaaggagtatcccaAgcctctccaggttaacatca	12	9	8	12	0	2	0	1	0	1	0	4	2	3	2	3	3	2	2	3	3	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:107867040A>G	uc001dvh.4	+	2	1101	c.383A>G	c.(382-384)aAg>aGg	p.K128R	NTNG1_uc001dvc.4_Missense_Mutation_p.K128R|NTNG1_uc010out.2_Missense_Mutation_p.K128R|NTNG1_uc001dvf.4_Missense_Mutation_p.K128R|NTNG1_uc001dvd.1_Missense_Mutation_p.K128R	NM_001113226	NP_001106697	Q9Y2I2	NTNG1_HUMAN	Homo sapiens netrin G1 (NTNG1), transcript variant 1, mRNA.	128	Laminin N-terminal.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		GAGTATCCCAAGCCTCTCCAG	0.478													G	107867040	A	G	107867040	3	3	160	1	0	0	0	0	1	0	0	0	10780	72	3	3	389	3	NTNG1	1	107867040	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	81726626	107867040	141383581	2	11081											
AKNAD1	254268	broad.mit.edu	37	chr1	109395162	109395162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatttgatttaagactTcaaggccatccttttttgag	13	16	6	6	0	1	3	1	2	0	1	2	3	2	3	2	1	0	0	2	1	4	8			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:109395162T>C	uc001dwa.3	-	1	394	c.125A>G	c.(124-126)gAa>gGa	p.E42G	AKNAD1_uc010ovb.2_Intron|AKNAD1_uc001dwb.3_Non-coding_Transcript	NM_152763	NP_689976	Q5T1N1	AKND1_HUMAN	Homo sapiens AKNA domain containing 1 (AKNAD1), mRNA.	42										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						ATTTAAGACTTCAAGGCCATC	0.408													C	109395162	T	C	109395162	3	2	160	1	0	0	0	0	1	0	0	0	464	1783	62	3	2445	3	AKNAD1	1	109395162	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	1528122	109395162	139855459	3	11082											
IFI16	3428	broad.mit.edu	37	chr1	159015232	159015232	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatgcctccatcaacacCaagcagcagtttcttaacca	13	9	5	14	0	3	1	2	0	1	1	4	1	4	1	4	0	5	3	4	0	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159015232C>A	uc001ftg.3	+						IFI16_uc010pis.2_Missense_Mutation_p.P436Q|IFI16_uc010pit.2_Missense_Mutation_p.P492Q	NM_005531	NP_005522	Q16666	IF16_HUMAN	Homo sapiens interferon, gamma-inducible protein 16 (IFI16), transcript variant 2, mRNA.						cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					CCATCAACACCAAGCAGCAGT	0.488													A	159015232	C	A	159015232	3	1	160	1	0	0	0	0	1	0	0	0	7569	609	21	4		4	IFI16	1	159015232	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49620070	159015232	90235389	4	11083											
IGSF9	57549	broad.mit.edu	37	chr1	159897140	159897140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatcagggatgttcacaGcagagtggcctgttcggggt	8	10	14	9	1	3	1	3	0	0	1	4	2	3	2	1	4	1	3	1	4	0	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:159897140G>A	uc001fur.2	-	20	3733	c.3535C>T	c.(3535-3537)Ctg>Ttg	p.L1179L	IGSF9_uc001fuq.2_Silent_p.L1163L|TAGLN2_uc001fun.1_5'Flank|TAGLN2_uc010piy.1_5'Flank|IGSF9_uc001fup.2_Silent_p.L325L	NM_001135050	NP_001128522	Q9P2J2	TUTLA_HUMAN	Homo sapiens immunoglobulin superfamily, member 9 (IGSF9), transcript variant 1, mRNA.	1179						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GATGTTCACAGCAGAGTGGCC	0.607													A	159897140	G	A	159897140	2	1	160	1	0	0	0	0	0	0	0	1	7663	962	34	2		2	IGSF9	1	159897140	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	881908	159897140	89353481	5	11084											
FMO3	2328	broad.mit.edu	37	chr1	171077238	171077238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggactaaaccactttaaagGcaaatgcttccacagcaggg	15	7	9	10	0	0	0	0	0	0	0	1	1	1	1	2	3	3	3	2	3	5	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:171077238G>A	uc001ghi.3	+	4	614	c.503G>A	c.(502-504)gGc>gAc	p.G168D	FMO3_uc001ghh.3_Missense_Mutation_p.G168D|FMO3_uc010pmb.2_Missense_Mutation_p.G148D|FMO3_uc010pmc.2_Missense_Mutation_p.G105D	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	168					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACTTTAAAGGCAAATGCTTC	0.423													A	171077238	G	A	171077238	3	1	160	1	0	0	0	0	1	0	0	0	6005	1203	42	2	517	2	FMO3	1	171077238	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	11180098	171077238	78173383	6	11085											
OR14A16	284532	broad.mit.edu	37	chr1	247978223	247978223	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtgtagaacacagaaattAcagcatccaaaatagaagga	20	7	8	6	0	0	3	0	0	0	3	1	4	1	4	1	1	3	2	1	1	9	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr1:247978223A>G	uc001idm.1	-	0	809	c.809T>C	c.(808-810)gTa>gCa	p.V270A		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACAGAAATTACAGCATCCAA	0.413													G	247978223	A	G	247978223	3	3	160	1	0	0	0	0	1	0	0	0	11021	391	14	3	124	3	OR14A16	1	247978223	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	76900985	247978223	1272398	7	11086											
CTNNA2	1496	broad.mit.edu	37	chr2	80874750	80874750	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccaggcagctaaaaaccTgatgaatgctgttgtcctca	12	11	8	10	0	1	2	1	2	0	0	3	2	3	2	3	1	3	4	3	1	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:80874750T>C	uc010ysh.2	+	17	2620	c.2615T>C	c.(2614-2616)cTg>cCg	p.L872P	CTNNA2_uc010yse.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysf.2_Missense_Mutation_p.L824P|CTNNA2_uc010ysg.2_Missense_Mutation_p.L779P|CTNNA2_uc010ysi.2_Missense_Mutation_p.L456P|CTNNA2_uc010ysj.2_Missense_Mutation_p.L153P	NM_004389	NP_004380	P26232	CTNA2_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 2 (CTNNA2), transcript variant 1, mRNA.	872					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCTAAAAACCTGATGAATGCT	0.468													C	80874750	T	C	80874750	3	2	160	1	0	0	0	0	1	0	0	0	4046	1580	55	3	2329	3	CTNNA2	2	80874750	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		80874750	162324623	8	11087											
RGPD4	285190	broad.mit.edu	37	chr2	108455335	108455335	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagaattgctttgtaaaaAtgatgttactgatggaagag	14	13	11	3	0	0	4	0	2	0	2	0	5	0	5	0	1	3	4	0	1	6	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:108455335A>T	uc010ywk.2	+	3	402	c.320A>T	c.(319-321)aAt>aTt	p.N107I	RGPD4_uc002tdu.3_5'UTR	NM_182588	NP_872394	Q7Z3J3	RGPD4_HUMAN	Homo sapiens RANBP2-like and GRIP domain containing 4 (RGPD4), mRNA.	107					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTTTGTAAAAATGATGTTACT	0.333													T	108455335	A	T	108455335	3	4	160	1	0	0	0	0	1	0	0	0	13376	101	4	5	334	5	RGPD4	2	108455335	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	27580585	108455335	134744038	9	11088											
SCN9A	6335	broad.mit.edu	37	chr2	167159653	167159653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatgctttctaatgtttcaTtattttcaagtgaatttcga	10	21	5	5	1	3	1	2	1	1	0	4	2	3	1	0	0	1	2	0	0	5	8			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:167159653T>C	uc010fpl.3	-	6	1189	c.848A>G	c.(847-849)aAt>aGt	p.N283S	SCN9A_uc002udr.1_Missense_Mutation_p.N154S|SCN9A_uc002uds.1_Missense_Mutation_p.N154S|SCN9A_uc002udt.1_Missense_Mutation_p.N154S	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	283						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAATGTTTCATTATTTTCAAG	0.338													C	167159653	T	C	167159653	3	2	160	1	0	0	0	0	1	0	0	0	14018	1493	52	3	5169	3	SCN9A	2	167159653	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	58704318	167159653	76039720	10	11089											
ZSWIM2	151112	broad.mit.edu	37	chr2	187713851	187713851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccttatagcctcggcGaagcatgctgggtgcgggcg	7	7	17	10	4	0	1	0	0	0	1	1	2	0	1	2	4	4	2	2	4	3	2	rs34437613		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:187713851G>T	uc002upu.1	-	0	47	c.7C>A	c.(7-9)Cgc>Agc	p.R3S		NM_182521	NP_872327	Q8NEG5	ZSWM2_HUMAN	Homo sapiens zinc finger, SWIM-type containing 2 (ZSWIM2), mRNA.	3					apoptosis		zinc ion binding	p.R3L(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGCCTCGGCGAAGCATGCTG	0.642													T	187713851	G	T	187713851	3	4	160	1	0	0	0	0	1	0	0	0	18338	1058	37	4	1930	4	ZSWIM2	2	187713851	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	20554198	187713851	55485522	11	11090											
FAM126B	285172	broad.mit.edu	37	chr2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttatccttggctgaaCgcccagttgctactttcctt	5	18	6	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	3	8	rs138872845		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:201846441C>T	uc002uws.4	-	11	1333	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	FAM126B_uc002uwu.3_Missense_Mutation_p.R356H|FAM126B_uc002uwv.3_Missense_Mutation_p.R382H	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	382						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493													T	201846441	C	T	201846441	3	4	160	1	0	0	0	0	1	0	0	0	5475	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	14132590	201846441	41352932	12	11091											
ZDBF2	57683	broad.mit.edu	37	chr2	207176262	207176262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcttgtttacaacaacGtgagagaatgatgactcggc	12	11	9	9	2	2	4	1	3	1	1	3	5	2	4	0	1	3	1	0	1	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:207176262G>A	uc002vbp.2	+	4	7260	c.7010G>A	c.(7009-7011)cGt>cAt	p.R2337H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	2337							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTACAACAACGTGAGAGAATG	0.428													A	207176262	G	A	207176262	3	1	160	1	0	0	0	0	1	0	0	0	17700	1145	40	1	7020	1	ZDBF2	2	207176262	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	5329821	207176262	36023111	13	11092											
CHRND	1144	broad.mit.edu	37	chr2	233394744	233394744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccgccaggacatcaccttcTacctcatcatccgccgcaag	9	7	7	18	3	4	0	3	0	1	0	5	1	5	1	6	1	1	1	6	1	2	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:233394744T>C	uc002vsw.3	+	6	719	c.715T>C	c.(715-717)Tac>Cac	p.Y239H	CHRND_uc021vyi.1_Non-coding_Transcript|CHRND_uc010zmg.2_Missense_Mutation_p.Y224H|CHRND_uc010zmh.2_Intron	NM_000751	NP_000742	Q07001	ACHD_HUMAN	Homo sapiens cholinergic receptor, nicotinic, delta (CHRND), mRNA.	239					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CATCACCTTCTACCTCATCAT	0.612													C	233394744	T	C	233394744	3	2	160	1	0	0	0	0	1	0	0	0	3424	1522	53	3	741	3	CHRND	2	233394744	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	26218482	233394744	9804629	14	11093											
ATG4B	23192	broad.mit.edu	37	chr2	242592988	242592988	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcggtgtggacagatgatCtttgcccaagccctggtgtg	6	11	14	10	1	1	2	0	1	1	1	1	3	1	3	2	3	3	0	2	3	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr2:242592988C>G	uc002wbv.3	+	3	349	c.246C>G	c.(244-246)atC>atG	p.I82M	ATG4B_uc002wbu.3_Missense_Mutation_p.I8M|ATG4B_uc002wbw.3_Missense_Mutation_p.I82M|ATG4B_uc010zox.2_Missense_Mutation_p.I68M|ATG4B_uc010zoy.2_Missense_Mutation_p.I8M|ATG4B_uc010fzp.3_Missense_Mutation_p.I82M|ATG4B_uc010zoz.2_Missense_Mutation_p.I8M	NM_013325	NP_037457	Q9Y4P1	ATG4B_HUMAN	Homo sapiens ATG4 autophagy related 4 homolog B (S. cerevisiae) (ATG4B), transcript variant 1, mRNA.	82					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding	p.I82M(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		GACAGATGATCTTTGCCCAAG	0.642													G	242592988	C	G	242592988	3	3	160	1	0	0	0	0	1	0	0	0	1102	903	32	4	260	4	ATG4B	2	242592988	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	9198244	242592988	606385	15	11094											
ZFYVE20	64145	broad.mit.edu	37	chr3	15123959	15123959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtgtccttgcagtgtgtaCagcagcggatccggtcatcg	6	10	14	11	4	1	0	1	0	0	0	4	1	3	1	2	2	4	3	2	2	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:15123959C>A	uc003bzm.1	-	8	1369	c.755G>T	c.(754-756)tGt>tTt	p.C252F	ZFYVE20_uc010hek.1_Missense_Mutation_p.C252F|ZFYVE20_uc011avn.1_Intron	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	252	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						GCAGTGTGTACAGCAGCGGAT	0.572													A	15123959	C	A	15123959	3	1	160	1	0	0	0	0	1	0	0	0	17767	478	17	4	1623	4	ZFYVE20	3	15123959	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		15123959	182898471	16	11095											
FLNB	2317	broad.mit.edu	37	chr3	58141766	58141766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggtcatcgcaccctcCgacgacgcccgccgcctcac	5	5	10	21	7	2	0	2	0	0	0	4	2	3	0	6	1	1	1	6	1	0	0	rs113304692		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:58141766C>T	uc003djj.2	+	40	7017	c.6852C>T	c.(6850-6852)tcC>tcT	p.S2284S	FLNB_uc010hne.2_Silent_p.S2315S|FLNB_uc003djk.2_Silent_p.S2273S|FLNB_uc010hnf.2_Silent_p.S2260S|FLNB_uc003djl.2_Silent_p.S2104S|FLNB_uc003djm.2_Silent_p.S2091S	NM_001457	NP_001448	O75369	FLNB_HUMAN	Homo sapiens filamin B, beta (FLNB), transcript variant 2, mRNA.	2284	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCGCACCCTCCGACGACGCCC	0.587													T	58141766	C	T	58141766	2	4	160	1	0	0	0	0	0	0	0	1	5983	639	23	1		1	FLNB	3	58141766	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	43017807	58141766	139880664	17	11096											
ROBO1	6091	broad.mit.edu	37	chr3	78711202	78711202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggttgtggaggtgcagaaCagcatttcccagctctctct	7	11	13	10	0	2	1	0	0	2	1	4	2	3	2	1	4	4	4	1	4	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:78711202C>T	uc003dqe.2	-	14	2237	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	ROBO1_uc003dqc.2_Missense_Mutation_p.V641I|ROBO1_uc003dqd.2_Missense_Mutation_p.V641I|ROBO1_uc003dqb.2_Missense_Mutation_p.V638I|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc011bgl.1_Missense_Mutation_p.V249I|ROBO1_uc003dqf.1_Missense_Mutation_p.V356I	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	677	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.V654F(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AGGTGCAGAACAGCATTTCCC	0.483													T	78711202	C	T	78711202	3	4	160	1	0	0	0	0	1	0	0	0	13604	478	17	2	2994	2	ROBO1	3	78711202	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	20569436	78711202	119311228	18	11097											
OR5H1	26341	broad.mit.edu	37	chr3	97851558	97851558	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatggaagaggaaaatgCaacattgctgacagagtttg	15	8	13	5	0	0	3	0	1	0	2	0	6	0	6	0	3	3	3	0	3	4	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:97851558C>G	uc011bgt.2	+	0	17	c.17C>G	c.(16-18)gCa>gGa	p.A6G		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						GAGGAAAATGCAACATTGCTG	0.393													G	97851558	C	G	97851558	3	3	160	1	0	0	0	0	1	0	0	0	11235	710	25	4	19	4	OR5H1	3	97851558	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	19140356	97851558	100170872	19	11098											
CEP70	80321	broad.mit.edu	37	chr3	138216906	138216906	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatcattagtaaatgcctGaaatgctgggaaaaattcct	15	12	8	6	0	1	2	1	1	0	1	2	3	2	3	2	1	2	2	2	1	7	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:138216906G>A	uc003esl.3	-	16	1897	c.1699C>T	c.(1699-1701)Cag>Tag	p.Q567*	CEP70_uc011bmk.2_Nonsense_Mutation_p.Q547*|CEP70_uc011bml.2_Nonsense_Mutation_p.Q549*|CEP70_uc011bmm.2_Nonsense_Mutation_p.Q415*	NM_024491	NP_077817	Q8NHQ1	CEP70_HUMAN	Homo sapiens centrosomal protein 70kDa (CEP70), mRNA.	567					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GTAAATGCCTGAAATGCTGGG	0.343													A	138216906	G	A	138216906	4	1	160	1	0	0	0	0	0	1	0	0	3289	1299	45	2	102	2	CEP70	3	138216906	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	40365348	138216906	59805524	20	11099											
NAALADL2	254827	broad.mit.edu	37	chr3	174814645	174814645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggacactcacagtacttaGacaatgatgaccttcaagcc	14	8	7	12	0	2	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr3:174814645G>A	uc003fit.3	+	1	196	c.109G>A	c.(109-111)Gac>Aac	p.D37N	NAALADL2_uc003fiu.1_Missense_Mutation_p.D30N	NM_207015	NP_996898	Q58DX5	NADL2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 2 (NAALADL2), mRNA.	37					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ACAGTACTTAGACAATGATGA	0.413													A	174814645	G	A	174814645	3	1	160	1	0	0	0	0	1	0	0	0	10206	942	33	2	115	2	NAALADL2	3	174814645	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	36597739	174814645	23207785	21	11100											
PDGFRA	5156	broad.mit.edu	37	chr4	55131142	55131142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaccgtgtataagtcagggGaaacgattgtggtcacctgt	12	10	12	7	2	2	0	2	0	0	0	2	2	2	1	2	3	2	1	2	3	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:55131142G>A	uc003han.4	+	4	1016	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Missense_Mutation_p.E123K|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAAGTCAGGGGAAACGATTGT	0.423			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55131142	G	A	55131142	3	1	160	1	0	0	0	0	1	0	0	0	11737	1175	41	2	699	2	PDGFRA	4	55131142	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		55131142	136023134	22	11101											
LRBA	987	broad.mit.edu	37	chr4	151357950	151357950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaactttggaacttgatCatcttcccatgattcataac	12	14	6	9	0	3	3	2	3	1	0	4	4	4	4	1	1	3	0	1	1	3	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:151357950C>A	uc010ipj.3	-	45	7124	c.6880G>T	c.(6880-6882)Gat>Tat	p.D2294Y	LRBA_uc010ipi.3_5'UTR|LRBA_uc003ils.4_Missense_Mutation_p.D184Y|LRBA_uc003ilt.4_Missense_Mutation_p.D942Y|LRBA_uc003ilu.4_Missense_Mutation_p.D2283Y	NM_006726	NP_006717	P50851	LRBA_HUMAN	Homo sapiens LPS-responsive vesicle trafficking, beach and anchor containing (LRBA), transcript variant 2, mRNA.	2294	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GGAACTTGATCATCTTCCCAT	0.388													A	151357950	C	A	151357950	3	1	160	1	0	0	0	0	1	0	0	0	9001	826	29	4	1763	4	LRBA	4	151357950	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	96226808	151357950	39796326	23	11102											
FGG	2266	broad.mit.edu	37	chr4	155528109	155528109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgtcagcttcaggtcccaCcttgaacatggcatagtctg	8	12	9	12	0	3	1	2	1	1	0	4	1	4	1	2	2	2	2	2	2	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr4:155528109C>T	uc003ioj.3	-	7	1018	c.877G>A	c.(877-879)Gtg>Atg	p.V293M	FGG_uc003iog.3_Missense_Mutation_p.V293M	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	293	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TCAGGTCCCACCTTGAACATG	0.493													T	155528109	C	T	155528109	3	4	160	1	0	0	0	0	1	0	0	0	5919	507	18	2	511	2	FGG	4	155528109	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	4170159	155528109	35626167	24	11103											
SPEF2	79925	broad.mit.edu	37	chr5	35659271	35659271	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaacatgaggaaagaCgacttaaagatttccaggat	20	7	8	6	1	0	3	0	1	0	2	1	6	1	5	1	2	2	0	1	2	6	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:35659271C>T	uc003jjo.3	+	7	1240	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	SPEF2_uc003jjn.1_Nonsense_Mutation_p.R377*|SPEF2_uc003jjq.4_Nonsense_Mutation_p.R377*	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	377					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R377*(2)		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)			TGAGGAAAGACGACTTAAAGA	0.408													T	35659271	C	T	35659271	4	4	160	1	0	0	0	0	0	1	0	0	15131	528	19	1	1159	1	SPEF2	5	35659271	Nonsense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		35659271	145255989	25	11104											
ITGA1	3672	broad.mit.edu	37	chr5	52145207	52145207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcctaaagttgttctaCgctgctgcgtatcattcaat	8	17	6	10	2	4	0	2	0	2	0	5	0	4	0	1	0	3	5	1	0	5	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:52145207C>T	uc003jou.3	+	1	484	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	ITGA1_uc003jov.3_Non-coding_Transcript	NM_181501	NP_852478	P56199	ITA1_HUMAN	Homo sapiens integrin, alpha 1 (ITGA1), mRNA.	24					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGTTGTTCTACGCTGCTGCGT	0.373													T	52145207	C	T	52145207	3	4	160	1	0	0	0	0	1	0	0	0	7930	536	19	1	76	1	ITGA1	5	52145207	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	16485936	52145207	128770053	26	11105											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855139	79855139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccttaggggccaatgCaggtttcctcacaggggaac	8	7	14	12	0	1	0	1	0	0	0	2	1	2	1	4	6	2	2	4	6	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:79855139C>T	uc010jam.3	-	3	1050	c.700G>A	c.(700-702)Gca>Aca	p.A234T	ANKRD34B_uc003kgw.3_Missense_Mutation_p.A234T|ANKRD34B_uc010jan.3_Missense_Mutation_p.A234T|ANKRD34B_uc021yax.1_Missense_Mutation_p.A234T	NM_001004441	NP_001004441	A5PLL1	AN34B_HUMAN	Homo sapiens ankyrin repeat domain 34B (ANKRD34B), mRNA.	234						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		GGGGCCAATGCAGGTTTCCTC	0.522													T	79855139	C	T	79855139	3	4	160	1	0	0	0	0	1	0	0	0	663	710	25	2	848	2	ANKRD34B	5	79855139	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	27709932	79855139	101060121	27	11106											
SLCO4C1	353189	broad.mit.edu	37	chr5	101585466	101585466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacaattggcattacaagggGctatcaagtttcccaattct	12	13	7	9	0	2	0	1	0	1	0	3	0	3	0	1	3	2	3	1	3	7	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:101585466G>A	uc003knm.3	-	8	1783	c.1496C>T	c.(1495-1497)gCc>gTc	p.A499V		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	499	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTACAAGGGGCTATCAAGTT	0.373													A	101585466	G	A	101585466	3	1	160	1	0	0	0	0	1	0	0	0	14824	1203	42	2	698	2	SLCO4C1	5	101585466	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	21730327	101585466	79329794	28	11107											
TXNDC15	79770	broad.mit.edu	37	chr5	134223439	134223439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctgctcaccctctccAggtgggggctgtgtacctgg	4	9	14	14	0	2	0	1	0	1	0	3	0	2	0	4	4	3	4	4	4	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:134223439A>G	uc003lac.1	+	1	816	c.158A>G	c.(157-159)cAg>cGg	p.Q53R	TXNDC15_uc010jdy.1_Intron	NM_024715	NP_078991	Q96J42	TXD15_HUMAN	Homo sapiens thioredoxin domain containing 15 (TXNDC15), mRNA.	53					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACCCTCTCCAGGTGGGGGCT	0.567													G	134223439	A	G	134223439	3	3	160	1	0	0	0	0	1	0	0	0	16896	188	7	3	164	3	TXNDC15	5	134223439	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	32637973	134223439	46691821	29	11108											
CDC23	8697	broad.mit.edu	37	chr5	137548883	137548883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgctcccgggtaaggcccGcaataagcagcagttgcttt	8	8	11	14	3	0	0	0	0	0	0	1	0	1	0	3	2	3	7	3	2	3	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137548883G>A	uc003lcl.3	-	0	150	c.119C>T	c.(118-120)gCg>gTg	p.A40V	CDC23_uc003lcm.1_Missense_Mutation_p.A40V	NM_004661	NP_004652	Q9UJX2	CDC23_HUMAN	Homo sapiens cell division cycle 23 homolog (S. cerevisiae) (CDC23), mRNA.	40					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGTAAGGCCCGCAATAAGCAG	0.572													A	137548883	G	A	137548883	3	1	160	1	0	0	0	0	1	0	0	0	3091	1087	38	1	1738	1	CDC23	5	137548883	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	3325444	137548883	43366377	30	11109											
FAM53C	51307	broad.mit.edu	37	chr5	137682463	137682463	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctctccaccatggttcAtggcctgtagccccccaccc	6	9	7	19	0	2	0	1	0	1	0	4	0	3	0	7	2	1	3	7	2	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:137682463A>G	uc003lcv.3	+	4	1464	c.994A>G	c.(994-996)Atg>Gtg	p.M332V	FAM53C_uc003lcw.3_Missense_Mutation_p.M332V|FAM53C_uc011cyq.2_Non-coding_Transcript|FAM53C_uc011cyr.2_3'UTR	NM_001135647	NP_057689	Q9NYF3	FA53C_HUMAN	Homo sapiens family with sequence similarity 53, member C (FAM53C), transcript variant 1, mRNA.	332										breast(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACCATGGTTCATGGCCTGTAG	0.572													G	137682463	A	G	137682463	3	3	160	1	0	0	0	0	1	0	0	0	5632	217	8	3	1008	3	FAM53C	5	137682463	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	133580	137682463	43232797	31	11110											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167728	140167728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccggcagcaggcggcgCgcgcatcccgttccgcgtgg	4	4	17	16	8	0	0	0	0	0	0	2	0	2	0	3	4	2	5	3	4	0	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140167728C>T	uc003lhb.2	+	0	1853	c.1853C>T	c.(1852-1854)gCg>gTg	p.A618V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.A618V	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCGGCGCGCGCATCCCG	0.672													T	140167728	C	T	140167728	3	4	160	1	0	0	0	0	1	0	0	0	11609	768	27	1		1	PCDHAC2	5	140167728	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	2485265	140167728	40747532	32	11111											
PCDHB7	56129	broad.mit.edu	37	chr5	140553181	140553181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgcaggtgcccgaaaatagCcccgttggttccatggttgt	7	11	13	10	2	0	0	0	0	0	0	1	1	1	0	4	3	3	4	4	3	3	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:140553181C>T	uc003lit.3	+	0	939	c.765C>T	c.(763-765)agC>agT	p.S255S		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	255	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGAAAATAGCCCCGTTGGTT	0.507													T	140553181	C	T	140553181	2	4	160	1	0	0	0	0	0	0	0	1	11623	738	26	2		2	PCDHB7	5	140553181	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	385453	140553181	40362079	33	11112											
SLC34A1	6569	broad.mit.edu	37	chr5	176815108	176815108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcactcgacttgtggtggCctccttcaacatccatggtg	7	12	9	13	1	2	0	2	0	0	0	5	1	4	0	3	3	1	0	3	3	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:176815108C>A	uc003mgk.4	+	6	862	c.758C>A	c.(757-759)gCc>gAc	p.A253D	SLC34A1_uc021yis.1_Missense_Mutation_p.A253D	NM_003052	NP_003043	Q06495	NPT2A_HUMAN	Homo sapiens solute carrier family 34 (sodium phosphate), member 1 (SLC34A1), transcript variant 1, mRNA.	253					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTTGTGGTGGCCTCCTTCAAC	0.592													A	176815108	C	A	176815108	3	1	160	1	0	0	0	0	1	0	0	0	14661	739	26	4	780	4	SLC34A1	5	176815108	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	36261927	176815108	4100152	34	11113											
FLT4	2324	broad.mit.edu	37	chr5	180048821	180048821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctcgtacttgtagctgtCggcttggcagctcaggagca	7	11	13	10	2	1	0	1	0	0	0	3	1	1	1	0	3	5	8	0	3	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr5:180048821C>T	uc003mlz.4	-	12	1820	c.1741G>A	c.(1741-1743)Gac>Aac	p.D581N	FLT4_uc003mma.4_Missense_Mutation_p.D581N|FLT4_uc003mmb.1_Missense_Mutation_p.D114N|FLT4_uc011dgy.2_Missense_Mutation_p.D581N	NM_182925	NP_891555	P35916	VGFR3_HUMAN	Homo sapiens fms-related tyrosine kinase 4 (FLT4), transcript variant 1, mRNA.	581	Ig-like C2-type 6.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTGTAGCTGTCGGCTTGGCAG	0.617													T	180048821	C	T	180048821	3	4	160	1	0	0	0	0	1	0	0	0	5993	884	31	1	2430	1	FLT4	5	180048821	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	3233713	180048821	866439	35	11114											
NKAPL	222698	broad.mit.edu	37	chr6	28227888	28227888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaataagaaaaccaaaaaaGaatccagtgactcaagctgt	21	6	7	7	0	1	4	1	1	0	3	2	4	2	4	2	0	2	1	2	0	9	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:28227888G>A	uc003nkt.3	+	0	791	c.739G>A	c.(739-741)Gaa>Aaa	p.E247K	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	247										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AACCAAAAAAGAATCCAGTGA	0.368													A	28227888	G	A	28227888	3	1	160	1	0	0	0	0	1	0	0	0	10516	943	33	2	741	2	NKAPL	6	28227888	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		28227888	142887179	36	11115											
PKHD1	5314	broad.mit.edu	37	chr6	51768472	51768472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attggagagtccctcggcacCagaaacctggatgatcacgt	11	8	11	11	2	1	3	1	1	0	2	3	5	2	4	3	3	1	1	3	3	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:51768472C>T	uc003pah.1	-	42	7195	c.6919G>A	c.(6919-6921)Ggt>Agt	p.G2307S	PKHD1_uc010jzn.1_Missense_Mutation_p.G290S|PKHD1_uc003pai.3_Missense_Mutation_p.G2307S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2307					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCTCGGCACCAGAAACCTGG	0.418													T	51768472	C	T	51768472	3	4	160	1	0	0	0	0	1	0	0	0	12048	594	21	2	5444	2	PKHD1	6	51768472	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	23540584	51768472	119346595	37	11116											
BMP5	653	broad.mit.edu	37	chr6	55638880	55638880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattctggaggagtcctgatGagagctggatttattgcggt	8	13	14	6	1	1	2	0	2	1	1	2	6	2	5	1	4	2	1	1	4	1	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:55638880G>A	uc003pcq.3	-	3	1706	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	BMP5_uc011dxf.2_Missense_Mutation_p.H332Y	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	332					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			GAGTCCTGATGAGAGCTGGAT	0.468													A	55638880	G	A	55638880	3	1	160	1	0	0	0	0	1	0	0	0	1469	1290	45	2	386	2	BMP5	6	55638880	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	3870408	55638880	115476187	38	11117											
BEND6	221336	broad.mit.edu	37	chr6	56883316	56883316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaagaagccaaatttaagCaaaaatcttaactctcagga	19	8	5	9	0	2	1	1	0	2	1	3	2	2	2	2	1	3	1	2	1	7	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:56883316C>G	uc010kab.3	+	5	1396	c.810C>G	c.(808-810)agC>agG	p.S270R	BEND6_uc003pdi.4_Missense_Mutation_p.S172R	NM_152731	NP_689944	Q5SZJ8	BEND6_HUMAN	Homo sapiens BEN domain containing 6 (BEND6), mRNA.	270	BEN.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						CAAATTTAAGCAAAAATCTTA	0.313													G	56883316	C	G	56883316	3	3	160	1	0	0	0	0	1	0	0	0	1407	709	25	4	828	4	BEND6	6	56883316	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	1244436	56883316	114231751	39	11118											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611257	62611257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacgtagttgttcctgaCgaatttcatcattgtagtcc	9	16	7	9	2	3	1	3	1	0	0	5	2	5	1	2	0	0	4	2	0	3	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:62611257C>T	uc003peg.2	-	4	750	c.503G>A	c.(502-504)cGt>cAt	p.R168H		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	168					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TTGTTCCTGACGAATTTCATC	0.403													T	62611257	C	T	62611257	3	4	160	1	0	0	0	0	1	0	0	0	8205	536	19	1	566	1	KHDRBS2	6	62611257	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5727941	62611257	108503810	40	11119											
SNAP91	9892	broad.mit.edu	37	chr6	84303343	84303343	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcagttgcgggaactGgaggggctgtgctagctgta	9	8	18	6	1	0	0	0	0	0	0	0	3	0	3	0	5	5	6	0	5	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:84303343G>C	uc021zcf.1	-	16	1580	c.1550C>G	c.(1549-1551)cCa>cGa	p.P517R	SNAP91_uc011dzd.2_Missense_Mutation_p.P20R|SNAP91_uc003pka.3_Missense_Mutation_p.P515R|SNAP91_uc011dze.2_Missense_Mutation_p.P515R|SNAP91_uc003pkc.3_Missense_Mutation_p.P515R|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.P480R	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	517	Ala-rich.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGCGGGAACTGGAGGGGCTGT	0.607													C	84303343	G	C	84303343	3	2	160	1	0	0	0	0	1	0	0	0	14927	1348	47	4	1221	4	SNAP91	6	84303343	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	21692086	84303343	86811724	41	11120											
MAP3K7	6885	broad.mit.edu	37	chr6	91266234	91266234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttaccttcaaaaacttcagGtgccatccaagcagcactcc	12	10	5	14	0	2	0	2	0	0	0	4	0	4	0	4	1	5	2	4	1	4	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr6:91266234G>A	uc003pnz.1	-	5	897	c.592C>T	c.(592-594)Cct>Tct	p.P198S	MAP3K7_uc003pob.1_Missense_Mutation_p.P198S|MAP3K7_uc003poa.1_Missense_Mutation_p.P198S|MAP3K7_uc003poc.1_Missense_Mutation_p.P198S	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	198	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAACTTCAGGTGCCATCCAA	0.403													A	91266234	G	A	91266234	3	1	160	1	0	0	0	0	1	0	0	0	9330	1261	44	2	1276	2	MAP3K7	6	91266234	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6962891	91266234	79848833	42	11121											
SEPT7	989	broad.mit.edu	37	chr7	35942771	35942771	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtcagttcgaggatgAgaaagcaaactgggaagctc	13	7	13	8	3	1	1	1	1	0	1	4	5	1	3	0	2	3	3	0	2	3	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:35942771A>G	uc010kxc.3	+	11	1438	c.1214A>G	c.(1213-1215)gAg>gGg	p.E405G	SEPT7_uc011kat.2_Missense_Mutation_p.E405G|SEPT7_uc011kau.2_Missense_Mutation_p.E371G|SEPT7_uc011kav.2_Missense_Mutation_p.E354G	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	407					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						TTCGAGGATGAGAAAGCAAAC	0.383													G	35942771	A	G	35942771	3	3	160	1	0	0	0	0	1	0	0	0	14162	304	11	3	1264	3	SEPT7	7	35942771	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		35942771	123195892	43	11122											
SRRT	51593	broad.mit.edu	37	chr7	100485931	100485931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctccatacccccatgccCcgtatggtgctggtcgaggg	5	8	12	16	2	0	0	0	0	0	0	2	1	1	0	6	3	3	2	6	3	2	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:100485931C>G	uc003uwy.2	+	18	2749	c.2482C>G	c.(2482-2484)Ccg>Gcg	p.P828A	SRRT_uc010lhl.1_Missense_Mutation_p.P827A|SRRT_uc003uxa.2_Missense_Mutation_p.P823A|SRRT_uc003uwz.2_Missense_Mutation_p.P824A|DJ051769_uc010lhm.1_5'Flank	NM_015908	NP_056992	Q9BXP5	SRRT_HUMAN	Homo sapiens serrate RNA effector molecule homolog (Arabidopsis) (SRRT), transcript variant 1, mRNA.	828	Pro-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.P828Q(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						CCCCCATGCCCCGTATGGTGC	0.577													G	100485931	C	G	100485931	3	3	160	1	0	0	0	0	1	0	0	0	15268	623	22	4	2552	4	SRRT	7	100485931	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	64543160	100485931	58652732	44	11123											
LAMB4	22798	broad.mit.edu	37	chr7	107708521	107708521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgtcacagcagcgccCgaccacaagaggtttacact	11	6	9	15	2	1	1	1	0	0	1	1	2	1	1	3	1	3	3	3	1	2	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:107708521C>T	uc010ljo.1	-	18	2470	c.2386G>A	c.(2386-2388)Ggg>Agg	p.G796R	LAMB4_uc003vey.2_Missense_Mutation_p.G796R	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	796	Laminin EGF-like 6.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CAGCAGCGCCCGACCACAAGA	0.567													T	107708521	C	T	107708521	3	4	160	1	0	0	0	0	1	0	0	0	8672	652	23	1	2963	1	LAMB4	7	107708521	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	7222590	107708521	51430142	45	11124											
GPR85	54329	broad.mit.edu	37	chr7	112724397	112724397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctctttgtatagaagCggtgatgggcgatagctaaa	11	11	12	7	2	2	2	1	1	1	1	2	3	2	2	1	2	3	2	1	2	6	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:112724397C>T	uc010ljv.2	-	1	897	c.380G>A	c.(379-381)cGc>cAc	p.R127H	GPR85_uc003vgp.1_Missense_Mutation_p.R127H|GPR85_uc003vgq.2_Missense_Mutation_p.R127H|GPR85_uc010ljw.1_Missense_Mutation_p.R127H|GPR85_uc022akd.1_Missense_Mutation_p.R127H	NM_001146266	NP_061843	P60893	GPR85_HUMAN	Homo sapiens G protein-coupled receptor 85 (GPR85), transcript variant 3, mRNA.	127						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						TGTATAGAAGCGGTGATGGGC	0.493													T	112724397	C	T	112724397	3	4	160	1	0	0	0	0	1	0	0	0	6769	768	27	1	736	1	GPR85	7	112724397	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5015876	112724397	46414266	46	11125											
GRM8	2918	broad.mit.edu	37	chr7	126173579	126173579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacgtaactaagttcGcgtcctgaagccctcacgat	11	8	10	12	4	1	1	1	1	0	0	3	3	2	2	2	1	3	3	2	1	3	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:126173579G>A	uc003vlr.2	-	7	2168	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.R619R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	619					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R619R(2)|p.R619L(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)			A	126173579	G	A	126173579	2	1	160	1	0	0	0	0	0	0	0	1	6858	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	13449182	126173579	32965084	47	11126											
CALD1	800	broad.mit.edu	37	chr7	134618735	134618735	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcaagagacaaagataaaAggggaaaaggtagaacagaa	23	3	12	3	0	0	4	0	0	0	4	0	6	0	5	0	3	2	2	0	3	9	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr7:134618735A>G	uc003vrz.3	+	4	1681	c.1215A>G	c.(1213-1215)aaA>aaG	p.K405K	CALD1_uc003vry.3_Intron|CALD1_uc003vsb.3_Intron|CALD1_uc011kpt.2_Intron|CALD1_uc010lmm.3_Intron|CALD1_uc003vsc.3_Intron|CALD1_uc003vsd.3_Intron|CALD1_uc011kpu.2_Intron|CALD1_uc011kpv.2_Intron|CALD1_uc003vse.3_Silent_p.K269K	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	405					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						CAAAGATAAAAGGGGAAAAGG	0.418													G	134618735	A	G	134618735	2	3	160	1	0	0	0	0	0	0	0	1	2607	69	3	3		3	CALD1	7	134618735	Silent	SNP	A	TCGA-19-2631-01A-01D-1353-08	8445156	134618735	24519928	48	11127											
ADAM2	2515	broad.mit.edu	37	chr8	39626970	39626970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgcattaccacacactgCttgctgtttgaaaaaaggat	12	13	7	9	0	0	1	0	1	0	0	0	2	0	2	1	1	4	4	1	1	4	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:39626970C>A	uc003xnj.3	-	11	1228	c.1153G>T	c.(1153-1155)Gca>Tca	p.A385S	ADAM2_uc003xnk.3_Missense_Mutation_p.A366S|ADAM2_uc011lck.2_Missense_Mutation_p.A385S|ADAM2_uc003xnl.3_Missense_Mutation_p.A259S	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	385	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.A385V(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCACACACTGCTTGCTGTTTG	0.448													A	39626970	C	A	39626970	3	1	160	1	0	0	0	0	1	0	0	0	241	797	28	4	1090	4	ADAM2	8	39626970	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		39626970	106737052	49	11128											
TMEM55A	55529	broad.mit.edu	37	chr8	92007945	92007945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gataactgactcttatggctCcccaataacaagctcggata	13	10	7	11	1	1	1	0	1	1	0	3	3	2	2	2	2	3	2	2	2	6	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:92007945C>T	uc003yes.3	-	6	960	c.734G>A	c.(733-735)gGa>gAa	p.G245E		NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	Homo sapiens transmembrane protein 55A (TMEM55A), mRNA.	245						integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			TCTTATGGCTCCCCAATAACA	0.438													T	92007945	C	T	92007945	3	4	160	1	0	0	0	0	1	0	0	0	16281	855	30	2	43	2	TMEM55A	8	92007945	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	52380975	92007945	54356077	50	11129											
TRPS1	7227	broad.mit.edu	37	chr8	116430676	116430676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaaacaccggagcctctaCgcctctgaaacaggggaaaa	17	4	9	11	2	2	1	0	1	2	0	2	3	2	3	3	3	4	0	3	3	7	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr8:116430676C>T	uc003yny.3	-	5	3283	c.2705G>A	c.(2704-2706)cGt>cAt	p.R902H	TRPS1_uc011lhy.2_Missense_Mutation_p.R893H|TRPS1_uc003ynz.3_Missense_Mutation_p.R889H|TRPS1_uc010mcy.3_Missense_Mutation_p.R889H	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	889					negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GGAGCCTCTACGCCTCTGAAA	0.478									Langer-Giedion syndrome				T	116430676	C	T	116430676	3	4	160	1	0	0	0	0	1	0	0	0	16694	536	19	1	1187	1	TRPS1	8	116430676	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	24422731	116430676	29933346	51	11130											
RANBP6	26953	broad.mit.edu	37	chr9	6012502	6012502	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggaattatttggaccaaTtacaactgggtggttacttt	11	16	9	5	0	0	0	0	0	0	0	0	2	0	2	1	4	3	1	1	4	6	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:6012502T>G	uc003zjr.3	-	0	3139	c.3106A>C	c.(3106-3108)Att>Ctt	p.I1036L	RANBP6_uc011lmf.2_Missense_Mutation_p.I684L|RANBP6_uc003zjs.3_3'UTR	NM_012416	NP_036548	O60518	RNBP6_HUMAN	Homo sapiens RAN binding protein 6 (RANBP6), transcript variant 1, mRNA.	1036					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TTTGGACCAATTACAACTGGG	0.368													G	6012502	T	G	6012502	3	3	160	1	0	0	0	0	1	0	0	0	13119	1493	52	5	215	5	RANBP6	9	6012502	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		6012502	135200929	52	11131											
C9orf41	138199	broad.mit.edu	37	chr9	77631261	77631261	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctttctgctttcccagtTtcactccagtctctcacaaa	7	15	3	16	0	4	0	2	0	2	0	8	0	7	0	3	0	1	2	3	0	1	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:77631261T>G	uc004ajq.3	-	2	666	c.513A>C	c.(511-513)gaA>gaC	p.E171D	C9orf41_uc011lsi.1_Non-coding_Transcript	NM_152420	NP_689633	Q8N4J0	CI041_HUMAN	Homo sapiens chromosome 9 open reading frame 41 (C9orf41), mRNA.	171										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)|urinary_tract(2)	17						CTTTCCCAGTTTCACTCCAGT	0.353													G	77631261	T	G	77631261	3	3	160	1	0	0	0	0	1	0	0	0	2508	1838	64	5	740	5	C9orf41	9	77631261	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	71618759	77631261	63582170	53	11132											
TLE1	7088	broad.mit.edu	37	chr9	84200544	84200544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccactgccagccactccccGgtggggcagtaccccaggga	7	4	12	18	1	0	0	0	0	0	0	1	1	1	1	7	4	3	2	7	4	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:84200544G>A	uc004alz.3	-	17	2475	c.2034C>T	c.(2032-2034)acC>acT	p.T678T	TLE1_uc004aly.3_Silent_p.T668T|TLE1_uc011lsr.2_Silent_p.T653T	NM_005077	NP_005068	Q04724	TLE1_HUMAN	Homo sapiens transducin-like enhancer of split 1 (E(sp1) homolog, Drosophila) (TLE1), mRNA.	668					negative regulation of Wnt receptor signaling pathway|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway		transcription factor binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	29						GCCACTCCCCGGTGGGGCAGT	0.557													A	84200544	G	A	84200544	2	1	160	1	0	0	0	0	0	0	0	1	16038	1103	39	1		1	TLE1	9	84200544	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	6569283	84200544	57012887	54	11133											
FAM22F	54754	broad.mit.edu	37	chr9	97081002	97081002	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagactgaagagctccctgGggtcctctccctcctgggct	5	9	13	14	0	1	3	0	1	1	2	5	4	4	3	4	4	1	2	4	4	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:97081002G>T	uc004aup.1	-	6	2037	c.2016C>A	c.(2014-2016)ccC>ccA	p.P672P		NM_017561	NP_060031	A1L443	FA22F_HUMAN	Homo sapiens family with sequence similarity 22, member F (FAM22F), mRNA.	672										central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(2)|prostate(2)|skin(2)|urinary_tract(1)	19		Acute lymphoblastic leukemia(62;0.136)				GAGCTCCCTGGGGTCCTCTCC	0.607													T	97081002	G	T	97081002	2	4	160	1	0	0	0	0	0	0	0	1	5592	1219	43	4		4	FAM22F	9	97081002	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	12880458	97081002	44132429	55	11134											
FAM22G	441457	broad.mit.edu	37	chr9	99694201	99694201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggacaggatggccgcGgcccaagtggggctggggct	6	5	20	10	2	0	0	0	0	0	0	0	2	0	2	2	9	0	3	2	9	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr9:99694201G>A	uc022bkp.1	+	1	235	c.214G>A	c.(214-216)Ggc>Agc	p.G72S	FAM22G_uc004awq.2_Missense_Mutation_p.G72S	NM_001170741	NP_001164212	Q5VZR2	FA22G_HUMAN	Homo sapiens family with sequence similarity 22, member G (FAM22G), transcript variant 2, mRNA.	72										central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(5)|skin(2)|stomach(1)	17		Acute lymphoblastic leukemia(62;0.0527)				GGATGGCCGCGGCCCAAGTGG	0.642													A	99694201	G	A	99694201	3	1	160	1	0	0	0	0	1	0	0	0	5593	1116	39	1	220	1	FAM22G	9	99694201	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2613199	99694201	41519230	56	11135											
ANKRD26	22852	broad.mit.edu	37	chr10	27324683	27324683	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcatgactatgagaattcTaagtaaaacaaaggaaactt	18	11	6	6	0	2	2	1	2	1	1	2	4	2	3	0	1	2	1	0	1	7	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:27324683T>C	uc009xku.1	-	24	2870	c.2698_splice	c.e24-1	p.N900_splice	ANKRD26_uc001itg.2_Splice_Site_p.N586_splice|ANKRD26_uc001ith.2_Splice_Site_p.N899_splice	NM_014915	NP_055730	Q9UPS8	ANR26_HUMAN	Homo sapiens ankyrin repeat domain 26 (ANKRD26), transcript variant 1, mRNA.	899						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						ATGAGAATTCTAAGTAAAACA	0.313													C	27324683	T	C	27324683	5	2	160	1	0	0	0	0	0	0	1	0	654	1536	53	3	2480	3	ANKRD26	10	27324683	Splice_Site	SNP	T	TCGA-19-2631-01A-01D-1353-08		27324683	108210064	57	11136											
TLL2	7093	broad.mit.edu	37	chr10	98173027	98173027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccaatggttggcctgaCgccattgtcatcttgacggg	6	11	13	11	2	2	2	1	2	1	0	2	2	2	2	3	4	0	1	3	4	1	3	rs61743696		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:98173027C>T	uc001kml.2	-	7	1211	c.970G>A	c.(970-972)Gtc>Atc	p.V324I	TLL2_uc009xvf.2_Missense_Mutation_p.V272I	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	324	Metalloprotease (By similarity).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G323G(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTGGCCTGACGCCATTGTCA	0.522													T	98173027	C	T	98173027	3	4	160	1	0	0	0	0	1	0	0	0	16046	536	19	1	2133	1	TLL2	10	98173027	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	70848344	98173027	37361720	58	11137											
LOC729020	729020	broad.mit.edu	37	chr10	105005929	105005929	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggtagaaagccttcgaaAgcagctaggccaggaccctt	11	8	12	10	1	0	1	0	0	0	1	1	3	0	2	3	3	3	3	3	3	4	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr10:105005929A>G	uc009xxi.2	+	0	286	c.176A>G	c.(175-177)aAg>aGg	p.K59R	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	59					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGCCTTCGAAAGCAGCTAGGC	0.498													G	105005929	A	G	105005929	3	3	160	1	0	0	0	0	1	0	0	0	8957	72	3	3	178	3	LOC729020	10	105005929	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	6832902	105005929	30528818	59	11138											
INS-IGF2	3630	broad.mit.edu	37	chr11	2181187	2181187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagggccaagggctgcagGctgcctgcaccagggccccc	6	4	14	17	0	0	0	0	0	0	0	1	0	1	0	6	4	3	4	6	4	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:2181187G>C	uc021qcd.1	-	1	466	c.228C>G	c.(226-228)agC>agG	p.S76R	IGF2_uc001lvi.3_Intron|INS-IGF2_uc001lvm.3_Intron|INS-IGF2_uc001lvo.1_Missense_Mutation_p.S76R|INS-IGF2_uc001lvn.2_Missense_Mutation_p.S76R|INS-IGF2_uc009ydg.1_Missense_Mutation_p.S64R	NM_001185098	NP_001172027	Q1WM24	Q1WM24_HUMAN	Homo sapiens insulin (INS), transcript variant 3, mRNA.	0					glucose metabolic process	extracellular region	hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	5		all_epithelial(84;0.00018)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.0832)|Lung(200;0.156)		AGGGCTGCAGGCTGCCTGCAC	0.662													C	2181187	G	C	2181187	3	2	160	1	0	0	0	0	1	0	0	0	7821	1194	42	4		4	INS-IGF2	11	2181187	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		2181187	132825329	60	11139											
CCKBR	887	broad.mit.edu	37	chr11	6291993	6291993	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgacggcgacagtgacagCgacagccaaagcagggtccg	11	5	14	11	4	0	2	0	2	0	0	1	4	1	2	2	2	3	1	2	2	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:6291993C>T	uc001mcp.3	+	3	1026	c.771C>T	c.(769-771)agC>agT	p.S257S	CCKBR_uc001mcq.3_Silent_p.S185S|CCKBR_uc001mcr.3_Silent_p.S257S|CCKBR_uc001mcs.3_Silent_p.S257S|CCKBR_uc001mct.1_5'Flank	NM_176875	NP_795344	P32239	GASR_HUMAN	Homo sapiens cholecystokinin B receptor (CCKBR), mRNA.	257					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding	p.D256N(1)		NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	ACAGTGACAGCGACAGCCAAA	0.622													T	6291993	C	T	6291993	2	4	160	1	0	0	0	0	0	0	0	1	2909	767	27	1		1	CCKBR	11	6291993	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	4110806	6291993	128714523	61	11140											
RAG1	5896	broad.mit.edu	37	chr11	36595309	36595309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagagctacttcctggcCggacctcattgccaaggttt	10	10	10	11	1	1	1	1	0	0	1	2	3	2	2	4	3	3	2	4	3	3	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:36595309C>T	uc021qgb.1	+	0	455	c.455C>T	c.(454-456)cCg>cTg	p.P152L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.P152L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	152	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				ACTTCCTGGCCGGACCTCATT	0.507									Familial Hemophagocytic Lymphohistiocytosis				T	36595309	C	T	36595309	3	4	160	1	0	0	0	0	1	0	0	0	13091	652	23	1	457	1	RAG1	11	36595309	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	30303316	36595309	98411207	62	11141											
ACCSL	390110	broad.mit.edu	37	chr11	44077630	44077630	+	Frame_Shift_Del	DEL	A	A	-																															cccatgtgatctggggtaccAgtaaggtgagccattgcttt																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:44077630delA	uc001mxw.1	+	9	1236	c.1180delA	c.(1180-1182)agtfs	p.S394fs	ACCSL_uc009ykr.2_Frame_Shift_Del_p.S213fs	NM_001031854	NP_001027025	Q4AC99	1A1L2_HUMAN	Homo sapiens 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like (ACCSL), mRNA.	394							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.T393S(1)		central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTGGGGTACCAGTAAGGTGAG	0.443													-	44077630	A	-	44077630	7	5	160	1	0	1	0	1	0	0	0	0	134	188	7	0	1218	0	ACCSL	11	44077630	Frame_Shift_Del	DEL	A	TCGA-19-2631-01A-01D-1353-08	7482321	44077630	90928886	63	11142											
CREB3L1	90993	broad.mit.edu	37	chr11	46341859	46341859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgacggggcaggcttaTgggaagatggccgcagcacc	10	5	16	10	3	0	2	0	1	0	1	0	4	0	3	2	5	1	4	2	5	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:46341859T>C	uc021qil.1	+	10	1738	c.1303T>C	c.(1303-1305)Tgg>Cgg	p.W435R	CREB3L1_uc021qik.1_Missense_Mutation_p.W435R|CREB3L1_uc001ncg.3_Missense_Mutation_p.W69R	NM_052854	NP_443086	Q96BA8	CR3L1_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 1 (CREB3L1), mRNA.	435					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGCAGGCTTATGGGAAGATGG	0.652			T	FUS	myxofibrosarcoma								C	46341859	T	C	46341859	3	2	160	1	0	0	0	0	1	0	0	0	3887	1464	51	3	1345	3	CREB3L1	11	46341859	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	2264229	46341859	88664657	64	11143											
OR5A1	219982	broad.mit.edu	37	chr11	59211096	59211096	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgcatggtggttggggcatAtgttggtggcttcctgagct	5	13	16	7	1	0	1	0	1	0	0	1	1	1	1	1	6	1	6	1	6	1	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:59211096A>T	uc001nnx.1	+	0	455	c.455A>T	c.(454-456)tAt>tTt	p.Y152F		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A151S(1)		central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GTTGGGGCATATGTTGGTGGC	0.547													T	59211096	A	T	59211096	3	4	160	1	0	0	0	0	1	0	0	0	11215	449	16	5	457	5	OR5A1	11	59211096	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	12869237	59211096	75795420	65	11144											
CABP4	57010	broad.mit.edu	37	chr11	67225877	67225877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggacgaattacggtggcGgagctgcgggaggcggtacc	8	6	19	8	5	0	0	0	0	0	0	0	5	0	3	1	7	4	2	1	7	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr11:67225877G>A	uc001olo.3	+	4	764	c.687G>A	c.(685-687)gcG>gcA	p.A229A	CABP4_uc001oln.3_Silent_p.A124A	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	229	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			TTACGGTGGCGGAGCTGCGGG	0.652													A	67225877	G	A	67225877	2	1	160	1	0	0	0	0	0	0	0	1	2559	1103	39	1		1	CABP4	11	67225877	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	8014781	67225877	67780639	66	11145											
APOBEC1	339	broad.mit.edu	37	chr12	7803627	7803627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgacttactagaattaTgcagtgcagctccagtgcgt	12	11	10	8	1	0	2	0	1	0	1	1	2	1	2	1	0	5	3	1	0	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:7803627T>C	uc001qtb.3	-	3	587	c.553A>G	c.(553-555)Ata>Gta	p.I185V	APOBEC1_uc001qtc.3_Missense_Mutation_p.I140V	NM_001644	NP_001635	P41238	ABEC1_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1 (APOBEC1), mRNA.	185	Leu-rich.				cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						ACTAGAATTATGCAGTGCAGC	0.433													C	7803627	T	C	7803627	3	2	160	1	0	0	0	0	1	0	0	0	790	1464	51	3	165	3	APOBEC1	12	7803627	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08		7803627	126048268	67	11146											
PRB1	5542	broad.mit.edu	37	chr12	11506566	11506566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggggtggtccttgtggCtttcctggaggagatcaggg	4	12	19	6	0	1	1	1	0	0	1	3	3	3	2	2	7	0	1	2	7	0	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:11506566C>T	uc001qzw.1	-	3	505	c.468G>A	c.(466-468)aaG>aaA	p.K156K	PRB1_uc001qzu.1_Intron|PRB1_uc001qzv.1_Intron	NM_005039	NP_005030	P04280	PRP1_HUMAN	Homo sapiens proline-rich protein BstNI subfamily 1 (PRB1), transcript variant 1, mRNA.	157	15 X 20 AA approximate tandem repeats of P-P-G-K-P-Q-G-P-P-[PAQ]-Q-[GE]-[GD]- [NKS]-[KSQRN]-[PRQS]-[QS] [GPS]-[PQAR]- [PSR].		Missing (in allele S).|Missing (in clone CP-4).|Missing (in clone CP-5).			extracellular region				NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			GTCCTTGTGGCTTTCCTGGAG	0.597													T	11506566	C	T	11506566	2	4	160	1	0	0	0	0	0	0	0	1	12528	796	28	2		2	PRB1	12	11506566	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	3702939	11506566	122345329	68	11147											
KRT75	9119	broad.mit.edu	37	chr12	52828035	52828035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtgatggccgaggtggtGctgaagcccctgcggctgcc	4	7	19	11	2	0	2	0	2	0	0	0	3	0	2	4	6	4	2	4	6	1	0	rs140932366		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:52828035G>A	uc001saj.2	-	0	76	c.54C>T	c.(52-54)agC>agT	p.S18S		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	18	Head.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCGAGGTGGTGCTGAAGCCCC	0.672													A	52828035	G	A	52828035	2	1	160	1	0	0	0	0	0	0	0	1	8546	1310	46	2		2	KRT75	12	52828035	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	41321469	52828035	81023860	69	11148											
OR6C68	403284	broad.mit.edu	37	chr12	55886262	55886262	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctatttatcacctacaTgttgagtgtaacagggaaac	12	14	8	7	0	2	1	1	1	1	0	2	2	2	2	1	1	3	3	1	1	5	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:55886262T>A	uc010spo.2	+	0	116	c.116T>A	c.(115-117)aTg>aAg	p.M39K		NM_001005519	NP_001005519	A6NDL8	O6C68_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 68 (OR6C68), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15						ATCACCTACATGTTGAGTGTA	0.398													A	55886262	T	A	55886262	3	1	160	1	0	0	0	0	1	0	0	0	11272	1464	51	5	118	5	OR6C68	12	55886262	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	3058227	55886262	77965633	70	11149											
FAM19A2	338811	broad.mit.edu	37	chr12	62148677	62148677	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacatgatggagcagctcGcgtggtgcctgccacctgcc	7	7	12	15	2	0	1	0	1	0	0	1	2	0	2	4	2	5	2	4	2	0	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:62148677G>A	uc001sqw.3	-	2	1817	c.235C>T	c.(235-237)Cga>Tga	p.R79*	FAM19A2_uc001sqv.3_Non-coding_Transcript|FAM19A2_uc001sqx.3_Nonsense_Mutation_p.R79*|FAM19A2_uc001sqy.3_Non-coding_Transcript	NM_178539	NP_848634	Q8N3H0	F19A2_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A2 (FAM19A2), mRNA.	79						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		GGAGCAGCTCGCGTGGTGCCT	0.502													A	62148677	G	A	62148677	4	1	160	1	0	0	0	0	0	1	0	0	5579	1095	38	1	172	1	FAM19A2	12	62148677	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6262415	62148677	71703218	71	11150											
GRIP1	23426	broad.mit.edu	37	chr12	66800092	66800092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctttgcggattttgAgcttcaccaggtcttcacat	7	16	7	11	1	5	1	3	1	2	0	5	2	5	2	1	2	2	1	1	2	0	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:66800092A>G	uc001stk.3	-	14	2040	c.1799T>C	c.(1798-1800)cTc>cCc	p.L600P	GRIP1_uc010sta.1_Missense_Mutation_p.L544P|GRIP1_uc001stj.3_Missense_Mutation_p.L382P|GRIP1_uc001stm.3_Missense_Mutation_p.L600P|GRIP1_uc001stl.1_Missense_Mutation_p.L492P	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	652	PDZ 5.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GCGGATTTTGAGCTTCACCAG	0.413													G	66800092	A	G	66800092	3	3	160	1	0	0	0	0	1	0	0	0	6842	304	11	3	1471	3	GRIP1	12	66800092	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	4651415	66800092	67051803	72	11151											
MED13L	23389	broad.mit.edu	37	chr12	116446291	116446291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggcctgaactcagcatCatcactgggtgggagacgat	10	8	14	9	1	3	2	3	1	0	1	3	5	3	3	1	4	2	1	1	4	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:116446291C>G	uc001tvw.3	-	9	1982	c.1927G>C	c.(1927-1929)Gat>Cat	p.D643H		NM_015335	NP_056150	Q71F56	MD13L_HUMAN	Homo sapiens mediator complex subunit 13-like (MED13L), mRNA.	643					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AACTCAGCATCATCACTGGGT	0.517													G	116446291	C	G	116446291	3	3	160	1	0	0	0	0	1	0	0	0	9506	826	29	4	4793	4	MED13L	12	116446291	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49646199	116446291	17405604	73	11152											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687854	123687854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctctcaggtaactgcttGttttccctttgttttttata	5	22	5	9	0	1	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	3	10			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr12:123687854G>A	uc001uel.3	-	4	915	c.807C>T	c.(805-807)aaC>aaT	p.N269N	MPHOSPH9_uc010tal.2_5'UTR|MPHOSPH9_uc010tam.2_Intron|MPHOSPH9_uc001uem.3_5'UTR	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	269					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GTAACTGCTTGTTTTCCCTTT	0.373													A	123687854	G	A	123687854	2	1	160	1	0	0	0	0	0	0	0	1	9804	1368	48	2		2	MPHOSPH9	12	123687854	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	7241563	123687854	10164041	74	11153											
TGM1	7051	broad.mit.edu	37	chr14	24730965	24730965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggacaggaggaggagcatAtggaaaggctgcccgcggcg	10	3	19	9	4	0	0	0	0	0	0	0	5	0	5	1	7	2	2	1	7	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:24730965A>G	uc001wod.3	-	2	568	c.444T>C	c.(442-444)caT>caC	p.H148H	TGM1_uc010tog.2_Intron|TGM1_uc021rrn.1_5'Flank	NM_000359	NP_000350	P22735	TGM1_HUMAN	Homo sapiens transglutaminase 1 (K polypeptide epidermal type I, protein-glutamine-gamma-glutamyltransferase) (TGM1), mRNA.	148					cell envelope organization|keratinization|peptide cross-linking	cornified envelope|intrinsic to membrane	acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)	24				GBM - Glioblastoma multiforme(265;0.0186)	L-Glutamine(DB00130)	GGAGGAGCATATGGAAAGGCT	0.592													G	24730965	A	G	24730965	2	3	160	1	0	0	0	0	0	0	0	1	15929	446	16	3		3	TGM1	14	24730965	Silent	SNP	A	TCGA-19-2631-01A-01D-1353-08		24730965	82618575	75	11154											
SRP54	6729	broad.mit.edu	37	chr14	35465958	35465958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaataacatcagcattaCgctcgttgagcaatgccacc	15	8	7	11	2	1	1	1	1	0	0	2	2	1	1	2	0	5	4	2	0	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:35465958C>T	uc001wso.3	+	1	394	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C	SRP54_uc010tpp.2_5'UTR|SRP54_uc010tpq.2_Intron	NM_003136	NP_003127	P61011	SRP54_HUMAN	Homo sapiens signal recognition particle 54kDa (SRP54), transcript variant 1, mRNA.	15	G-domain.				GTP catabolic process|response to drug|SRP-dependent cotranslational protein targeting to membrane, signal sequence recognition|SRP-dependent cotranslational protein targeting to membrane, translocation	cytosol|nuclear speck|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|drug binding|endoplasmic reticulum signal peptide binding|GDP binding|GTP binding|nucleoside-triphosphatase activity|ribonucleoprotein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	Breast(36;0.0545)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;2.48e-05)|Lung(238;3.13e-05)|Epithelial(34;0.0314)|all cancers(34;0.0797)|BRCA - Breast invasive adenocarcinoma(188;0.243)	GBM - Glioblastoma multiforme(112;0.0396)		ATCAGCATTACGCTCGTTGAG	0.343													T	35465958	C	T	35465958	3	4	160	1	0	0	0	0	1	0	0	0	15251	536	19	1	45	1	SRP54	14	35465958	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	10734993	35465958	71883582	76	11155											
C14orf37	145407	broad.mit.edu	37	chr14	58471770	58471770	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgttggttccatacctttCttttatgccttttgaagcca	6	19	7	9	0	1	1	0	1	1	0	2	1	2	1	4	1	3	3	4	1	3	9			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr14:58471770C>G	uc010tro.2	-	7	2564	c.2366G>C	c.(2365-2367)aGa>aCa	p.R789T	C14orf37_uc001xdc.3_Missense_Mutation_p.R751T|C14orf37_uc001xdd.3_Missense_Mutation_p.R751T	NM_001001872	NP_001001872	Q86TY3	CN037_HUMAN	Homo sapiens chromosome 14 open reading frame 37 (C14orf37), mRNA.	751						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCATACCTTTCTTTTATGCCT	0.413													G	58471770	C	G	58471770	3	3	160	1	0	0	0	0	1	0	0	0	1784	913	32	4	80	4	C14orf37	14	58471770	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	23005812	58471770	48877770	77	11156											
GABRB3	2562	broad.mit.edu	37	chr15	26825568	26825568	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagccttgtccccgcctcGccagtaaaactcaatgtcat	11	9	6	15	2	2	0	2	0	0	0	4	0	3	0	5	0	3	1	5	0	4	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:26825568G>A	uc001zbb.3	-	6	851	c.748C>T	c.(748-750)Cga>Tga	p.R250*	GABRB3_uc021sgg.1_Nonsense_Mutation_p.R123*|GABRB3_uc021sgh.1_Nonsense_Mutation_p.R109*|GABRB3_uc001zaz.3_Nonsense_Mutation_p.R194*|GABRB3_uc001zba.3_Nonsense_Mutation_p.R194*	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	194					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCCCCGCCTCGCCAGTAAAAC	0.517													A	26825568	G	A	26825568	4	1	160	1	0	0	0	0	0	1	0	0	6220	1095	38	1	857	1	GABRB3	15	26825568	Nonsense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		26825568	75705824	78	11157											
PCSK6	5046	broad.mit.edu	37	chr15	101924538	101924538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcacctttatgacccGcgccgttcactttccagtcg	5	11	8	17	5	1	1	1	1	0	0	3	1	2	1	5	0	1	2	5	0	1	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr15:101924538G>A	uc002bxa.2	-	10	1714	c.1400C>T	c.(1399-1401)gCg>gTg	p.A467V	PCSK6_uc010bpd.3_Intron|PCSK6_uc002bwy.3_Missense_Mutation_p.A467V|PCSK6_uc010bpe.3_Missense_Mutation_p.A464V|PCSK6_uc002bxb.2_Missense_Mutation_p.A467V|PCSK6_uc002bxc.1_Missense_Mutation_p.A467V|PCSK6_uc002bxd.1_Missense_Mutation_p.A467V|PCSK6_uc002bxe.3_Missense_Mutation_p.A467V|PCSK6_uc002bxg.1_Missense_Mutation_p.A467V	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	468					glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTTATGACCCGCGCCGTTCAC	0.567													A	101924538	G	A	101924538	3	1	160	1	0	0	0	0	1	0	0	0	11680	1087	38	1	2037	1	PCSK6	15	101924538	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	75098970	101924538	606854	79	11158											
GLYR1	84656	broad.mit.edu	37	chr16	4863830	4863830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcagcacaccactggggcCcagcaccagctgtggggaca	9	5	13	14	0	0	0	0	0	0	0	0	1	0	1	3	4	4	4	3	4	0	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:4863830C>T	uc002cxx.4	-	11	1064	c.1027G>A	c.(1027-1029)Ggc>Agc	p.G343S	GLYR1_uc002cxy.3_Non-coding_Transcript|GLYR1_uc002cxz.1_Missense_Mutation_p.G257S|GLYR1_uc002cya.2_Missense_Mutation_p.G337S|GLYR1_uc010uxv.1_Missense_Mutation_p.G262S	NM_032569	NP_115958	Q49A26	GLYR1_HUMAN	Homo sapiens glyoxylate reductase 1 homolog (Arabidopsis) (GLYR1), mRNA.	343					pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CCACTGGGGCCCAGCACCAGC	0.612													T	4863830	C	T	4863830	3	4	160	1	0	0	0	0	1	0	0	0	6539	623	22	2	654	2	GLYR1	16	4863830	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08		4863830	85490923	80	11159											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524533	10524533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaagccaaaaagacaatgcCcctaagttgccggaagcaag	18	4	9	10	1	0	1	0	0	0	1	0	2	0	2	4	1	4	2	4	1	8	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:10524533C>T	uc002czw.3	+	1	215	c.56C>T	c.(55-57)cCc>cTc	p.P19L	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.P19L|ATF7IP2_uc002czv.3_Missense_Mutation_p.P19L|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	19					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						AAGACAATGCCCCTAAGTTGC	0.383													T	10524533	C	T	10524533	3	4	160	1	0	0	0	0	1	0	0	0	1093	623	22	2	58	2	ATF7IP2	16	10524533	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	5660703	10524533	79830220	81	11160											
UMOD	7369	broad.mit.edu	37	chr16	20359594	20359594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgccatctgccattattCgatttgcagtcctcgtctat	7	15	7	12	2	2	0	0	0	2	0	5	1	3	0	3	0	3	1	3	0	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:20359594C>T	uc002dhb.3	-	4	1152	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	UMOD_uc002dgz.3_Silent_p.S308S|UMOD_uc002dha.3_Silent_p.S308S	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	308	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TGCCATTATTCGATTTGCAGT	0.552													T	20359594	C	T	20359594	2	4	160	1	0	0	0	0	0	0	0	1	17081	871	31	1		1	UMOD	16	20359594	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	9835061	20359594	69995159	82	11161											
ITGAX	3687	broad.mit.edu	37	chr16	31373991	31373991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtcctgggggcccccCgctaccagcacaccgggaag	6	4	14	17	2	0	0	0	0	0	0	1	1	1	1	7	4	2	2	7	4	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr16:31373991C>T	uc002ebt.3	+	11	1343	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	ITGAX_uc002ebu.1_Missense_Mutation_p.R426C|ITGAX_uc010vfk.1_Missense_Mutation_p.R76C	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	426					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity	p.R426fs*20(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						GGGGGCCCCCCGCTACCAGCA	0.657													T	31373991	C	T	31373991	3	4	160	1	0	0	0	0	1	0	0	0	7947	652	23	1	1322	1	ITGAX	16	31373991	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	11014397	31373991	58980762	83	11162											
MYO15A	51168	broad.mit.edu	37	chr17	18055238	18055238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcctgaaagggcagatgacCcacctggcagctgcacctgg	10	6	12	13	0	0	3	0	2	0	1	1	3	1	3	4	3	2	4	4	3	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18055238C>T	uc021trm.1	+	39	8085	c.7866C>T	c.(7864-7866)acC>acT	p.T2622T	MYO15A_uc021trl.1_Silent_p.T2620T|MYO15A_uc010vxi.2_5'Flank|MYO15A_uc010vxj.1_5'Flank|MYO15A_uc010vxk.1_5'Flank	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	2622	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCAGATGACCCACCTGGCAG	0.602													T	18055238	C	T	18055238	2	4	160	1	0	0	0	0	0	0	0	1	10139	610	22	2		2	MYO15A	17	18055238	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08		18055238	63139972	84	11163											
LLGL1	3996	broad.mit.edu	37	chr17	18138556	18138556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccacgtggccagtgtccCcgccaagctgtgggcccgca	5	5	14	17	3	0	0	0	0	0	0	1	0	1	0	6	3	1	2	6	3	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:18138556C>G	uc002gsp.3	+	9	1275	c.1214C>G	c.(1213-1215)cCc>cGc	p.P405R		NM_004140	NP_004131	Q15334	L2GL1_HUMAN	Homo sapiens lethal giant larvae homolog 1 (Drosophila) (LLGL1), mRNA.	405					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCCAGTGTCCCCGCCAAGCTG	0.672													G	18138556	C	G	18138556	3	3	160	1	0	0	0	0	1	0	0	0	8894	623	22	4	1252	4	LLGL1	17	18138556	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	83318	18138556	63056654	85	11164											
GAS2L2	246176	broad.mit.edu	37	chr17	34074081	34074081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccccgtccctgctccccGttccctgcggggtctggggg	0	8	15	18	3	1	0	0	0	1	0	4	0	4	0	6	5	2	2	6	5	0	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34074081G>A	uc002hjv.2	-	4	1067	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W		NM_139285	NP_644814	Q8NHY3	GA2L2_HUMAN	Homo sapiens growth arrest-specific 2 like 2 (GAS2L2), mRNA.	347					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGCTCCCCGTTCCCTGCGG	0.612													A	34074081	G	A	34074081	3	1	160	1	0	0	0	0	1	0	0	0	6301	1144	40	1	1611	1	GAS2L2	17	34074081	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	15935525	34074081	47121129	86	11165											
TAF15	8148	broad.mit.edu	37	chr17	34151174	34151174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgtgggggatatgacaagGatggaagaggtcctatgaca	12	7	17	5	1	0	3	0	2	0	1	1	6	1	6	1	6	0	0	1	6	4	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:34151174G>T	uc002hkd.3	+	6	663	c.577G>T	c.(577-579)Gat>Tat	p.D193Y	TAF15_uc010ctw.1_Non-coding_Transcript|TAF15_uc002hkc.3_Missense_Mutation_p.D190Y	NM_139215	NP_631961	Q92804	RBP56_HUMAN	Homo sapiens TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa (TAF15), transcript variant 1, mRNA.	193	Gln/Gly/Ser/Tyr-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		ATATGACAAGGATGGAAGAGG	0.428			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								T	34151174	G	T	34151174	3	4	160	1	0	0	0	0	1	0	0	0	15615	1174	41	4	603	4	TAF15	17	34151174	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	77093	34151174	47044036	87	11166											
KCNH6	81033	broad.mit.edu	37	chr17	61607575	61607575	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcagcagccgcagctTgtcccagcgcctgttgtccc	6	8	11	16	2	0	0	0	0	0	0	2	0	2	0	4	0	5	5	4	0	1	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr17:61607575T>C	uc002jay.3	+	2	511	c.431T>C	c.(430-432)tTg>tCg	p.L144S	KCNH6_uc002jax.1_Missense_Mutation_p.L144S|KCNH6_uc010wpl.2_Missense_Mutation_p.L21S|KCNH6_uc010wpm.2_Missense_Mutation_p.L144S|KCNH6_uc002jaz.1_Missense_Mutation_p.L144S	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	144	PAC.				regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGCCGCAGCTTGTCCCAGCGC	0.642													C	61607575	T	C	61607575	3	2	160	1	0	0	0	0	1	0	0	0	8094	1821	63	3	441	3	KCNH6	17	61607575	Missense_Mutation	SNP	T	TCGA-19-2631-01A-01D-1353-08	27456401	61607575	19587635	88	11167											
THOC1	9984	broad.mit.edu	37	chr18	247872	247874	+	In_Frame_Del	DEL	TCT	TCT	-																															gagaaaagttttccatgaaaTcttctcatagcattgcacag																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:247872_247874delTCT	uc002kkj.4	-	9	801_803	c.761_763delAGA	c.(760-765)aagatt>att	p.K254del	THOC1_uc002kkl.2_In_Frame_Del_p.K254del	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	254					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding	p.E253K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTCCATGAAATCTTCTCATAGCA	0.35													-	247874	TCT	-	247872	7	5	160	1	0	1	0	1	0	0	0	0	15964	1435	50	0	1258	0	THOC1	18	247872	In_Frame_Del	DEL	TCT	TCGA-19-2631-01A-01D-1353-08		247872	77829376	89	11168											
PSTPIP2	9050	broad.mit.edu	37	chr18	43572096	43572096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatctgtccagttttgcGttgattcacaaagtattcaa	11	15	8	7	1	3	1	2	1	1	0	4	2	4	2	1	1	1	3	1	1	4	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr18:43572096G>A	uc002lbp.4	-	10	910	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	PSTPIP2_uc002lbq.4_Intron|RN7SK_uc021ujh.1_5'Flank	NM_024430	NP_077748	Q9H939	PPIP2_HUMAN	Homo sapiens proline-serine-threonine phosphatase interacting protein 2 (PSTPIP2), mRNA.	272						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CCAGTTTTGCGTTGATTCACA	0.388													A	43572096	G	A	43572096	3	1	160	1	0	0	0	0	1	0	0	0	12807	1145	40	1	206	1	PSTPIP2	18	43572096	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	43324224	43572096	34505152	90	11169											
DENND1C	79958	broad.mit.edu	37	chr19	6477231	6477231	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccccgagccccgctcaccgGcttgctattcccccgggtag	4	8	10	19	4	1	0	1	0	0	0	3	1	3	0	7	2	2	4	7	2	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:6477231G>C	uc002mfe.3	-	7	603	c.511C>G	c.(511-513)Ccg>Gcg	p.P171A	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P127A	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	171	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CCGCTCACCGGCTTGCTATTC	0.667													C	6477231	G	C	6477231	3	2	160	1	0	0	0	0	1	0	0	0	4467	1203	42	4	1958	4	DENND1C	19	6477231	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08		6477231	52651752	91	11170											
MUC16	94025	broad.mit.edu	37	chr19	8997532	8997532	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatagcaccaggagagggctGgcagctgtcgtggaggtggg	9	6	19	7	1	0	1	0	0	0	1	1	3	0	2	1	6	2	4	1	6	2	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:8997532G>A	uc002mkp.3	-	58	41094	c.40890C>T	c.(40888-40890)gcC>gcT	p.A13630A	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.A447A|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13632				Missing (in Ref. 3; AAK74120).	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						GGAGAGGGCTGGCAGCTGTCG	0.468													A	8997532	G	A	8997532	2	1	160	1	0	0	0	0	0	0	0	1	10049	1335	47	2		2	MUC16	19	8997532	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	2520301	8997532	50131451	92	11171											
FBXL12	54850	broad.mit.edu	37	chr19	9922084	9922084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggggacgcggtccagcaCgatgcattcaagcaggggca	9	4	17	11	4	1	0	1	0	0	0	2	2	2	1	1	6	3	4	1	6	1	1	rs61753275		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:9922084C>T	uc002mme.3	-	2	711	c.469G>A	c.(469-471)Gtg>Atg	p.V157M	FBXL12_uc002mmd.3_Missense_Mutation_p.V104M|FBXL12_uc002mmf.3_Missense_Mutation_p.V104M|FBXL12_uc002mmg.3_Missense_Mutation_p.V104M	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	157							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CGGTCCAGCACGATGCATTCA	0.667													T	9922084	C	T	9922084	3	4	160	1	0	0	0	0	1	0	0	0	5757	536	19	1	515	1	FBXL12	19	9922084	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	924552	9922084	49206899	93	11172											
B3GNT3	10331	broad.mit.edu	37	chr19	17919127	17919127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggaggcacagactcacGgagacatcctgcagtgggac	11	5	14	11	1	1	2	1	0	0	2	2	5	2	4	1	4	2	3	1	4	0	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17919127G>A	uc002nhl.1	+	1	658	c.511G>A	c.(511-513)Gga>Aga	p.G171R	B3GNT3_uc010ebd.1_Missense_Mutation_p.G171R|B3GNT3_uc010ebe.1_Missense_Mutation_p.G171R	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	171					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ACAGACTCACGGAGACATCCT	0.637													A	17919127	G	A	17919127	3	1	160	1	0	0	0	0	1	0	0	0	1263	1117	39	1	513	1	B3GNT3	19	17919127	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	7997043	17919127	41209856	94	11173											
SLC5A5	6528	broad.mit.edu	37	chr19	17986765	17986765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcccatgctgcagggcgGcatgaaggctgtggtctgga	6	9	16	10	1	1	1	0	1	1	0	2	2	2	2	1	5	2	4	1	5	1	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:17986765G>A	uc002nhr.4	+	4	895	c.548G>A	c.(547-549)gGc>gAc	p.G183D		NM_000453	NP_000444	Q92911	SC5A5_HUMAN	Homo sapiens solute carrier family 5 (sodium iodide symporter), member 5 (SLC5A5), mRNA.	183					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTGCAGGGCGGCATGAAGGCT	0.612													A	17986765	G	A	17986765	3	1	160	1	0	0	0	0	1	0	0	0	14762	1203	42	2	566	2	SLC5A5	19	17986765	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	67638	17986765	41142218	95	11174											
FAM187B	148109	broad.mit.edu	37	chr19	35718991	35718991	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggacgtggcaggcttccAcctgcagctcaggccgcaag	8	6	13	14	2	1	0	1	0	0	0	2	1	2	1	3	4	2	5	3	4	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:35718991A>C	uc002nyk.1	-	0	638	c.593T>G	c.(592-594)gTg>gGg	p.V198G		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	198						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCAGGCTTCCACCTGCAGCTC	0.542													C	35718991	A	C	35718991	3	2	160	1	0	0	0	0	1	0	0	0	5559	159	6	5	524	5	FAM187B	19	35718991	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08	17732226	35718991	23409992	96	11175											
SYMPK	8189	broad.mit.edu	37	chr19	46338456	46338456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggaaggaggctggcatggCctcgggtaggtacaccatgc	8	7	16	10	1	0	0	0	0	0	0	1	2	0	2	2	7	2	4	2	7	3	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:46338456C>T	uc002pdn.3	-	10	1518	c.1273G>A	c.(1273-1275)Gcc>Acc	p.A425T	SYMPK_uc002pdo.1_Missense_Mutation_p.A425T|SYMPK_uc002pdp.1_Missense_Mutation_p.A425T|SYMPK_uc002pdq.2_Missense_Mutation_p.A425T	NM_004819	NP_004810	Q92797	SYMPK_HUMAN	Homo sapiens symplekin (SYMPK), mRNA.	425					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GCTGGCATGGCCTCGGGTAGG	0.572													T	46338456	C	T	46338456	3	4	160	1	0	0	0	0	1	0	0	0	15536	739	26	2	2619	2	SYMPK	19	46338456	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	10619465	46338456	12790527	97	11176											
FAM83E	54854	broad.mit.edu	37	chr19	49106813	49106813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaggtcccacatggagcGgctgggccgggccggggggc	4	5	20	12	3	0	0	0	0	0	0	1	1	1	1	3	8	1	2	3	8	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:49106813G>A	uc002pjn.2	-	3	1179	c.1114C>T	c.(1114-1116)Cgc>Tgc	p.R372C		NM_017708	NP_060178	Q2M2I3	FA83E_HUMAN	Homo sapiens family with sequence similarity 83, member E (FAM83E), mRNA.	372			R -> H (in dbSNP:rs3745727).							NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CACATGGAGCGGCTgggccgg	0.692													A	49106813	G	A	49106813	3	1	160	1	0	0	0	0	1	0	0	0	5687	1116	39	1	330	1	FAM83E	19	49106813	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2768357	49106813	10022170	98	11177											
ZNF845	91664	broad.mit.edu	37	chr19	53854361	53854361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcttggatcaagctttCattcgcatctgcctgaactc	9	13	7	12	1	4	1	3	1	1	0	6	2	4	2	1	1	4	3	1	1	2	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr19:53854361C>A	uc010ydv.1	+	3	550	c.433C>A	c.(433-435)Cat>Aat	p.H145N	ZNF845_uc010ydw.1_Missense_Mutation_p.H145N	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						ATCAAGCTTTCATTCGCATCT	0.428													A	53854361	C	A	53854361	3	1	160	1	0	0	0	0	1	0	0	0	18290	826	29	4	443	4	ZNF845	19	53854361	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	4747548	53854361	5274622	99	11178											
SEC23B	10483	broad.mit.edu	37	chr20	18511418	18511418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttaatggagatttccgaAtggcatttggtgctactttg	9	17	10	5	1	0	1	0	0	0	1	1	3	1	1	1	3	2	2	1	3	3	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:18511418A>G	uc002wra.2	+	9	1665	c.1204A>G	c.(1204-1206)Atg>Gtg	p.M402V	SEC23B_uc010zsb.2_Missense_Mutation_p.M384V|SEC23B_uc002wrb.2_Missense_Mutation_p.M402V|SEC23B_uc002wqz.2_Missense_Mutation_p.M402V|SEC23B_uc002wrc.2_Missense_Mutation_p.M402V	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	402					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						AGATTTCCGAATGGCATTTGG	0.398													G	18511418	A	G	18511418	3	3	160	1	0	0	0	0	1	0	0	0	14085	101	4	3	1238	3	SEC23B	20	18511418	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		18511418	44514102	100	11179											
SRC	6714	broad.mit.edu	37	chr20	36030005	36030005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtctctctctgcccagGgagtttgctggactttctca	4	14	11	12	0	3	0	1	0	3	0	6	2	3	2	1	3	2	2	1	3	0	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36030005G>A	uc002xgx.3	+	11	1489	c.1040_splice	c.e11-1	p.G347_splice	SRC_uc002xgy.3_Splice_Site_p.G347_splice|SRC_uc021wdd.1_5'Flank	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	347	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CTCTGCCCAGGGAGTTTGCTG	0.617													A	36030005	G	A	36030005	3	1	160	1	0	0	0	0	1	0	0	0	15230	1246	43	2	1070	2	SRC	20	36030005	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	17518587	36030005	26995515	101	11180											
KIAA1755	85449	broad.mit.edu	37	chr20	36841631	36841631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagcttgtgggagcctttgCcgtcttcagcctctgcagcc	4	11	12	14	1	3	0	1	0	2	0	3	1	3	1	4	1	6	3	4	1	0	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:36841631C>T	uc002xhy.1	-	13	3688	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	KIAA1755_uc002xhv.1_Missense_Mutation_p.G203D|KIAA1755_uc002xhw.1_Missense_Mutation_p.G194D|KIAA1755_uc002xhx.1_Missense_Mutation_p.G417D	NM_001029864	NP_001025035	Q5JYT7	K1755_HUMAN	Homo sapiens KIAA1755 (KIAA1755), mRNA.	1139										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GGAGCCTTTGCCGTCTTCAGC	0.652													T	36841631	C	T	36841631	3	4	160	1	0	0	0	0	1	0	0	0	8315	739	26	2	190	2	KIAA1755	20	36841631	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	811626	36841631	26183889	102	11181											
LPIN3	64900	broad.mit.edu	37	chr20	39986528	39986528	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccccactctcagaaatggGtacaagttcctgtactgctc	9	11	7	14	0	1	1	1	0	1	1	5	1	3	1	3	1	3	4	3	1	4	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:39986528G>T	uc010ggh.3	+	16	2140	c.2049G>T	c.(2047-2049)ggG>ggT	p.G683G	LPIN3_uc002xjx.3_Silent_p.G682G|LPIN3_uc010zwf.2_Non-coding_Transcript	NM_022896	NP_075047	Q9BQK8	LPIN3_HUMAN	Homo sapiens lipin 3 (LPIN3), mRNA.	682	C-LIP.				fatty acid metabolic process	nucleus	phosphatidate phosphatase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(7)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Myeloproliferative disorder(115;0.000739)				TCAGAAATGGGTACAAGTTCC	0.622													T	39986528	G	T	39986528	2	4	160	1	0	0	0	0	0	0	0	1	8990	1248	44	4		4	LPIN3	20	39986528	Silent	SNP	G	TCGA-19-2631-01A-01D-1353-08	3144897	39986528	23038992	103	11182											
DPM1	8813	broad.mit.edu	37	chr20	49574949	49574949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgatgagcggcaggttctCgcgctcgttgtaggtaggta	7	10	15	9	5	1	1	0	1	1	0	3	2	1	1	0	4	1	7	0	4	3	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:49574949C>T	uc002xvw.1	-	0	112	c.112G>A	c.(112-114)Gag>Aag	p.E38K	DPM1_uc002xvx.1_Non-coding_Transcript|MOCS3_uc002xvy.1_5'Flank	NM_003859	NP_003850	O60762	DPM1_HUMAN	Homo sapiens dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit (DPM1), mRNA.	38					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						GGCAGGTTCTCGCGCTCGTTG	0.582													T	49574949	C	T	49574949	3	4	160	1	0	0	0	0	1	0	0	0	4763	893	31	1	706	1	DPM1	20	49574949	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	9588421	49574949	13450571	104	11183											
NFATC2	4773	broad.mit.edu	37	chr20	50007936	50007936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctataatggcttcttttaCgtctgatttctggcaggagg	7	16	11	7	1	3	1	0	1	3	0	3	2	3	2	0	4	2	3	0	4	3	6	rs148642400		TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr20:50007936C>T	uc002xwd.3	-	9	2995	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	NFATC2_uc002xwc.3_3'UTR|NFATC2_uc010zyv.2_3'UTR|NFATC2_uc010zyw.2_Silent_p.T706T|NFATC2_uc002xwe.3_Silent_p.T905T|NFATC2_uc010zyx.2_3'UTR|NFATC2_uc010zyy.2_3'UTR|NFATC2_uc010zyz.2_Silent_p.T706T	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	925					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GCTTCTTTTACGTCTGATTTC	0.498													T	50007936	C	T	50007936	2	4	160	1	0	0	0	0	0	0	0	1	10438	523	19	1		1	NFATC2	20	50007936	Silent	SNP	C	TCGA-19-2631-01A-01D-1353-08	432987	50007936	13017584	105	11184											
TMPRSS15	5651	broad.mit.edu	37	chr21	19651292	19651292	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatttaccttgatatacaAccgtcccccaaccagcaata	15	10	3	13	1	0	1	0	1	0	0	1	1	1	1	5	0	5	1	5	0	8	7			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:19651292A>T	uc002ykw.3	-	22	2784	c.2753T>A	c.(2752-2754)gTt>gAt	p.V918D		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	918	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGATATACAACCGTCCCCCA	0.328													T	19651292	A	T	19651292	3	4	160	1	0	0	0	0	1	0	0	0	16346	43	2	5	318	5	TMPRSS15	21	19651292	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		19651292	28478603	106	11185											
IFNGR2	3460	broad.mit.edu	37	chr21	34805024	34805024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgtgtcctctttttagcctCcactgagcttcagcaagtca	7	14	7	13	1	3	1	2	1	1	0	6	1	5	1	3	0	3	2	3	0	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chr21:34805024C>G	uc002yrp.4	+	5	1373	c.725C>G	c.(724-726)tCc>tGc	p.S242C	TMEM50B_uc002yrs.2_Non-coding_Transcript	NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	242					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TTTTTAGCCTCCACTGAGCTT	0.468													G	34805024	C	G	34805024	3	3	160	1	0	0	0	0	1	0	0	0	7608	855	30	4	747	4	IFNGR2	21	34805024	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	15153732	34805024	13324871	107	11186											
ZBED1	9189	broad.mit.edu	37	chrX	2407889	2407889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcattgaaggtgtggcccAggcagggcatgtgcactgcg	7	7	17	10	2	0	1	0	1	0	0	0	1	0	1	1	5	2	4	1	5	1	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:2407889A>G	uc022brx.1	-	0	872	c.872T>C	c.(871-873)cTg>cCg	p.L291P	DHRSX_uc004cqf.4_Intron|ZBED1_uc004cqh.2_Missense_Mutation_p.L291P|ZBED1_uc004cqg.2_Missense_Mutation_p.L291P|ZBED1_uc022brw.1_Missense_Mutation_p.L291P	NM_004729	NP_004720	O96006	ZBED1_HUMAN	Homo sapiens zinc finger, BED-type containing 1 (ZBED1), transcript variant 2, mRNA.	291						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGTGGCCCAGGCAGGGCAT	0.647													G	2407889	A	G	2407889	3	3	160	1	0	0	0	0	1	0	0	0	17619	188	7	3	1216	3	ZBED1	23	2407889	Missense_Mutation	SNP	A	TCGA-19-2631-01A-01D-1353-08		2407889	152862671	108	11187											
ARX	170302	broad.mit.edu	37	chrX	25031255	25031255	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttgggtgacagctccccgCcctctgtggccactgcagcg	4	8	12	17	2	1	1	0	1	1	0	2	1	2	1	5	2	3	2	5	2	0	1			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:25031255C>G	uc004dbp.4	-	1	1068	c.857G>C	c.(856-858)gGc>gCc	p.G286A		NM_139058	NP_620689	Q96QS3	ARX_HUMAN	Homo sapiens aristaless related homeobox (ARX), mRNA.	286			G -> S (in MRX54; dbSNP:rs28935479).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(1)	4						CAGCTCCCCGCCCTCTGTGGC	0.726													G	25031255	C	G	25031255	3	3	160	1	0	0	0	0	1	0	0	0	1009	739	26	4	847	4	ARX	23	25031255	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	22623366	25031255	130239305	109	11188											
DMD	1756	broad.mit.edu	37	chrX	32305784	32305784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatgaataatgtcaatcCgacctgagctttgttgtaga	11	14	9	7	1	1	3	1	2	0	1	2	4	2	3	2	0	2	4	2	0	5	5			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:32305784C>T	uc004dda.1	-	42	6396	c.6152G>A	c.(6151-6153)cGg>cAg	p.R2051Q	DMD_uc004dcw.2_Missense_Mutation_p.R707Q|DMD_uc004dcx.2_Missense_Mutation_p.R710Q|DMD_uc004dcz.2_Missense_Mutation_p.R1928Q|DMD_uc004dcy.1_Missense_Mutation_p.R2047Q|DMD_uc004ddb.1_Missense_Mutation_p.R2043Q|DMD_uc010ngo.1_Intron|DMD_uc010ngn.1_Non-coding_Transcript	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	2051					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AATGTCAATCCGACCTGAGCT	0.348													T	32305784	C	T	32305784	3	4	160	1	0	0	0	0	1	0	0	0	4619	652	23	1	5201	1	DMD	23	32305784	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	7274529	32305784	122964776	110	11189											
RBM3	5935	broad.mit.edu	37	chrX	48433596	48433596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaggaaagctcttcGtgggagggctcaactttaac	12	9	12	8	1	2	2	1	1	1	1	3	4	2	4	0	3	3	2	0	3	5	3			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:48433596G>C	uc004dkf.2	+	1	262	c.28G>C	c.(28-30)Gtg>Ctg	p.V10L		NM_006743	NP_006734	P98179	RBM3_HUMAN	Homo sapiens RNA binding motif (RNP1, RRM) protein 3 (RBM3), mRNA.	10	RRM.				positive regulation of translation	dendrite|nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						AAAGCTCTTCGTGGGAGGGCT	0.502											OREG0019765	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	48433596	G	C	48433596	3	2	160	1	0	0	0	0	1	0	0	0	13217	1145	40	4	30	4	RBM3	23	48433596	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	16127812	48433596	106836964	111	11190											
CLCN5	1184	broad.mit.edu	37	chrX	49851112	49851112	+	Frame_Shift_Del	DEL	A	A	-																															actattttatgtggagtttcAcaccccatggcatctctttg																										TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:49851112delA	uc004dos.1	+	7	1180	c.932delA	c.(931-933)cacfs	p.H311fs	CLCN5_uc004dor.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004doq.1_Frame_Shift_Del_p.H381fs|CLCN5_uc004dot.1_Frame_Shift_Del_p.H311fs	NM_000084	NP_000075	P51795	CLCN5_HUMAN	Homo sapiens chloride channel 5 (CLCN5), transcript variant 3, mRNA.	311					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTGGAGTTTCACACCCCATGG	0.498													-	49851112	A	-	49851112	7	5	160	1	0	1	0	1	0	0	0	0	3497	159	6	0	1176	0	CLCN5	23	49851112	Frame_Shift_Del	DEL	A	TCGA-19-2631-01A-01D-1353-08	1417516	49851112	105419448	112	11191											
USP51	158880	broad.mit.edu	37	chrX	55513943	55513943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgcagttacagcagttgGggttattggcctcctgccca	7	12	12	10	0	0	1	0	1	0	0	1	1	1	1	3	3	4	5	3	3	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:55513943G>A	uc022bxu.1	-	0	1430	c.1430C>T	c.(1429-1431)cCc>cTc	p.P477L	USP51_uc004dun.2_Missense_Mutation_p.P477L	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	477					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ACAGCAGTTGGGGTTATTGGC	0.478													A	55513943	G	A	55513943	3	1	160	1	0	0	0	0	1	0	0	0	17185	1232	43	2	709	2	USP51	23	55513943	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	5662831	55513943	99756617	113	11192											
NRK	203447	broad.mit.edu	37	chrX	105159747	105159747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagatctccttctgtgcCtaacaaccaggatcatgcac	12	9	8	12	0	3	2	1	0	2	2	4	4	3	3	3	1	4	1	3	1	2	2			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:105159747C>T	uc004emd.3	+	14	2678	c.2375C>T	c.(2374-2376)cCt>cTt	p.P792L	NRK_uc010npc.1_Missense_Mutation_p.P460L	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	792							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CCTTCTGTGCCTAACAACCAG	0.313										HNSCC(51;0.14)			T	105159747	C	T	105159747	3	4	160	1	0	0	0	0	1	0	0	0	10731	681	24	2	2433	2	NRK	23	105159747	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	49645804	105159747	50110813	114	11193											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	10	9	9	13	1	1	2	0	2	1	0	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:111914414G>A	uc004epp.3	-	0	347	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C	LHFPL1_uc004epq.3_Missense_Mutation_p.R69C|LHFPL1_uc010nqa.3_Intron|LHFPL1_uc010nqb.3_Missense_Mutation_p.R69C	NM_178175	NP_835469	Q86WI0	LHPL1_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 1 (LHFPL1), mRNA.	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592													A	111914414	G	A	111914414	3	1	160	1	0	0	0	0	1	0	0	0	8824	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	6754667	111914414	43356146	115	11194											
HTR2C	3358	broad.mit.edu	37	chrX	114082719	114082719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatagccgtttcaattcgcGgactaaggccatcatgaaga	12	9	10	10	3	2	2	2	1	0	1	3	3	2	3	2	2	1	2	2	2	4	4			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:114082719G>A	uc004epu.1	+	4	1231	c.503G>A	c.(502-504)cGg>cAg	p.R168Q	HTR2C_uc010nqc.1_Missense_Mutation_p.R168Q|HTR2C_uc004epv.1_Intron	NM_000868	NP_000859	P28335	5HT2C_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 2C (HTR2C), mRNA.	168					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity	p.R168Q(2)|p.S167L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTCAATTCGCGGACTAAGGCC	0.408													A	114082719	G	A	114082719	3	1	160	1	0	0	0	0	1	0	0	0	7501	1116	39	1	513	1	HTR2C	23	114082719	Missense_Mutation	SNP	G	TCGA-19-2631-01A-01D-1353-08	2168305	114082719	41187841	116	11195											
MAGEC3	139081	broad.mit.edu	37	chrX	140985023	140985023	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaagaagtataaggactaTtttcccatgatcttcgggaa	14	12	8	7	1	2	2	1	1	1	1	4	4	3	4	1	2	0	1	1	2	6	6			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:140985023T>C	uc011mwp.2	+	6	1479	c.1479T>C	c.(1477-1479)taT>taC	p.Y493Y	MAGEC3_uc004fbs.3_Silent_p.Y195Y|MAGEC3_uc010nsj.3_Silent_p.Y195Y|MAGEC3_uc022cfh.1_Silent_p.Y195Y	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	493	MAGE 2.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATAAGGACTATTTTCCCATGA	0.438													C	140985023	T	C	140985023	2	2	160	1	0	0	0	0	0	0	0	1	9257	1500	52	3		3	MAGEC3	23	140985023	Silent	SNP	T	TCGA-19-2631-01A-01D-1353-08	26902304	140985023	14285537	117	11196											
MTMR1	8776	broad.mit.edu	37	chrX	149924177	149924177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgtatatacaaagaCgatatctttatggtcgtata	14	14	8	5	2	2	1	1	0	1	1	3	3	2	2	0	2	1	2	0	2	8	8			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:149924177C>T	uc004feh.1	+	14	1832	c.1697C>T	c.(1696-1698)aCg>aTg	p.T566M	MTMR1_uc011mya.1_Missense_Mutation_p.T464M|MTMR1_uc004fei.3_Missense_Mutation_p.T558M|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	558	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TATACAAAGACGATATCTTTA	0.323													T	149924177	C	T	149924177	3	4	160	1	0	0	0	0	1	0	0	0	10014	536	19	1	1727	1	MTMR1	23	149924177	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	8939154	149924177	5346383	118	11197											
FAM3A	60343	broad.mit.edu	37	chrX	153736149	153736149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgcaactcacctccggcCcacatgtcaaaggcccgggc	8	5	10	18	3	2	0	2	0	0	0	3	0	3	0	4	3	2	2	4	3	2	0			TCGA-19-2631-01A-01D-1353-08	TCGA-19-2631-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c5bd78d-89c0-4828-903d-4fe5a3088440	d235b579-9d3f-49e3-bdcf-6c3ae9975993	g.chrX:153736149C>A	uc004flt.2	-	6	946	c.420G>T	c.(418-420)tgG>tgT	p.W140C	FAM3A_uc011mzp.2_Intron|FAM3A_uc022cih.1_Missense_Mutation_p.W88C|FAM3A_uc004flw.2_Missense_Mutation_p.W126C|FAM3A_uc004fls.2_Missense_Mutation_p.W126C	NM_001171133	NP_001164604	P98173	FAM3A_HUMAN	Homo sapiens family with sequence similarity 3, member A (FAM3A), transcript variant 3, mRNA.	126						extracellular region				kidney(2)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACCTCCGGCCCACATGTCAA	0.627													A	153736149	C	A	153736149	3	1	160	1	0	0	0	0	1	0	0	0	5607	624	22	4	330	4	FAM3A	23	153736149	Missense_Mutation	SNP	C	TCGA-19-2631-01A-01D-1353-08	3811972	153736149	1534411	119	11198											
CHD5	26038	broad.mit.edu	37	chr1	6181182	6181182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctctcggcagctgctccGgggagggcggggccttctcc	4	7	15	15	3	2	0	0	0	2	0	5	1	3	1	4	6	3	3	4	6	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:6181182G>A	uc001amb.2	-	32	5006	c.4895C>T	c.(4894-4896)cCg>cTg	p.P1632L	CHD5_uc001alz.2_Missense_Mutation_p.P489L|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1632					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGCTGCTCCGGGGAGGGCGG	0.652													A	6181182	G	A	6181182	3	1	161	1	0	0	0	0	1	0	0	0	3358	1116	39	1	1005	1	CHD5	1	6181182	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		6181182	243069439	1	11199											
RORC	6097	broad.mit.edu	37	chr1	151789268	151789268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgttacagcgctggctcCggcggaagaagccctgggga	7	5	16	13	5	0	1	0	0	0	1	1	3	1	3	3	5	3	3	3	5	3	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:151789268C>T	uc001ezh.3	-	3	278	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	RORC_uc001ezg.3_Missense_Mutation_p.R36Q|RORC_uc010pdo.2_Missense_Mutation_p.R111Q|RORC_uc010pdp.2_Missense_Mutation_p.R57Q	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	57					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCGCTGGCTCCGGCGGAAGAA	0.637													T	151789268	C	T	151789268	3	4	161	1	0	0	0	0	1	0	0	0	13621	652	23	1	1418	1	RORC	1	151789268	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	145608086	151789268	97461353	2	11200											
RPTN	126638	broad.mit.edu	37	chr1	152127687	152127687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccctgtccctggttttGgtacccttcctgtcctggag	4	14	10	13	0	0	0	0	0	0	0	4	2	4	1	5	3	1	2	5	3	2	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:152127687G>T	uc001ezs.1	-	2	1953	c.1888C>A	c.(1888-1890)Caa>Aaa	p.Q630K		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	630	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCCTGGTTTTGGTACCCTTCC	0.498													T	152127687	G	T	152127687	3	4	161	1	0	0	0	0	1	0	0	0	13755	1357	47	4	470	4	RPTN	1	152127687	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	338419	152127687	97122934	3	11201											
HMCN1	83872	broad.mit.edu	37	chr1	185958748	185958748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaatacagccggctaCgccaaaaggaaagtgcagct	14	4	10	13	2	0	0	0	0	0	0	0	1	0	1	4	2	5	3	4	2	6	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:185958748C>T	uc001grq.1	+	20	3406	c.3177C>T	c.(3175-3177)taC>taT	p.Y1059Y	HMCN1_uc001grr.1_Silent_p.Y400Y	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1059	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCCGGCTACGCCAAAAGGA	0.483													T	185958748	C	T	185958748	2	4	161	1	0	0	0	0	0	0	0	1	7275	547	19	1		1	HMCN1	1	185958748	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	33831061	185958748	63291873	4	11202											
IGFN1	91156	broad.mit.edu	37	chr1	201182690	201182690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagagaggagagatgctaCccggagttccacatccagat	12	7	13	9	1	0	3	0	0	0	3	2	8	2	6	3	3	2	2	3	3	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr1:201182690C>T	uc001gwc.3	+	11	8799	c.8669C>T	c.(8668-8670)aCc>aTc	p.T2890I	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGAGATGCTACCCGGAGTTCC	0.562													T	201182690	C	T	201182690	3	4	161	1	0	0	0	0	1	0	0	0	7648	507	18	2	8711	2	IGFN1	1	201182690	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	15223942	201182690	48067931	5	11203											
STON1-GTF2A1L	11036	broad.mit.edu	37	chr2	48960045	48960045	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgaaggcattcccaagaaGgacatcgtttaacacctaaa	15	7	7	12	2	0	1	0	0	0	1	2	3	1	2	3	2	1	2	3	2	6	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:48960045G>C	uc021vhf.1	+						LHCGR_uc002rwu.4_Intron|LHCGR_uc002rwv.2_Intron	NM_001198593	NP_001185522	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 2, mRNA.						endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCAAGAAGGACATCGTTT	0.363													C	48960045	G	C	48960045	3	2	161	1	0	0	0	0	1	0	0	0	15413	1000	35	4		4	STON1-GTF2A1L	2	48960045	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		48960045	194239328	6	11204											
DPP10	57628	broad.mit.edu	37	chr2	116548904	116548904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaagattttatggacCgaaaccagtatgctcttctg	11	13	7	10	1	2	1	0	0	2	1	3	3	3	2	3	1	2	2	3	1	4	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:116548904C>T	uc002tle.3	+	18	1705	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	DPP10_uc002tla.2_Nonsense_Mutation_p.R558*|DPP10_uc002tlb.2_Nonsense_Mutation_p.R508*|DPP10_uc002tlc.2_Nonsense_Mutation_p.R554*|DPP10_uc002tlf.2_Nonsense_Mutation_p.R551*	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	558					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTTTATGGACCGAAACCAGTA	0.289													T	116548904	C	T	116548904	4	4	161	1	0	0	0	0	0	1	0	0	4766	644	23	1	1917	1	DPP10	2	116548904	Nonsense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	67588859	116548904	126650469	7	11205											
NCL	4691	broad.mit.edu	37	chr2	232325239	232325239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttctgtttggccattTccttctttcgttttccaggt	2	21	7	11	1	2	0	0	0	2	0	5	0	4	0	3	2	1	3	3	2	0	7			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr2:232325239T>C	uc002vru.3	-	4	989	c.848A>G	c.(847-849)gAa>gGa	p.E283G	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	283					angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		TTTGGCCATTTCCTTCTTTCG	0.433													C	232325239	T	C	232325239	3	2	161	1	0	0	0	0	1	0	0	0	10302	1783	62	3	1324	3	NCL	2	232325239	Missense_Mutation	SNP	T	TCGA-19-4068-01A-01D-1353-08	115776335	232325239	10874134	8	11206											
SUSD5	26032	broad.mit.edu	37	chr3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtggttgccatgatcGttgaggggatgtggttaggt	5	13	19	4	1	0	2	0	2	0	0	1	3	0	3	1	6	1	4	1	6	1	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:33194586G>A	uc003cfo.1	-	4	1956	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	513					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													A	33194586	G	A	33194586	3	1	161	1	0	0	0	0	1	0	0	0	15507	1145	40	1	355	1	SUSD5	3	33194586	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		33194586	164827844	9	11207											
VILL	50853	broad.mit.edu	37	chr3	38048114	38048114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgccacgatcaacGggggcctgcgccgggaacaa	10	2	14	15	5	1	0	1	0	0	0	1	2	1	1	4	3	4	1	4	3	3	0			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:38048114G>T	uc003chj.3	+	18	2666	c.2380G>T	c.(2380-2382)Ggg>Tgg	p.G794W	VILL_uc003chl.3_Missense_Mutation_p.G794W	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	794	HP.				actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CACGATCAACGGGGGCCTGCG	0.672													T	38048114	G	T	38048114	3	4	161	1	0	0	0	0	1	0	0	0	17267	1116	39	4	2450	4	VILL	3	38048114	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	4853528	38048114	159974316	10	11208											
SHISA5	51246	broad.mit.edu	37	chr3	48510545	48510545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatccatgtaggccgggttGtaaggaggctggctggcggg	6	8	19	8	2	0	0	0	0	0	0	1	1	1	1	2	7	0	6	2	7	2	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:48510545G>A	uc003ctp.1	-	5	818	c.684C>T	c.(682-684)taC>taT	p.Y228Y	SHISA5_uc003ctm.2_Silent_p.Y125Y|SHISA5_uc011bbk.1_Nonsense_Mutation_p.Q137*|SHISA5_uc011bbl.2_Silent_p.Y126Y|SHISA5_uc003cto.1_Silent_p.Y197Y|SHISA5_uc003cts.1_Silent_p.Y197Y|SHISA5_uc003ctt.3_3'UTR	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	228	Pro-rich.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						AGGCCGGGTTGTAAGGAGGCT	0.637													A	48510545	G	A	48510545	2	1	161	1	0	0	0	0	0	0	0	1	14377	1372	48	2		2	SHISA5	3	48510545	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	10462431	48510545	149511885	11	11209											
POC1A	25886	broad.mit.edu	37	chr3	52156395	52156395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgccaagccacttacCagattccccatggagctggc	9	8	9	15	0	0	1	0	0	0	1	1	2	1	2	6	2	5	1	6	2	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:52156395C>T	uc003dcu.3	-	9	1299	c.981_splice	c.e9+1	p.L327_splice	POC1A_uc003dcv.3_Splice_Site_p.L289_splice|POC1A_uc003dcw.3_Splice_Site_p.L327_splice	NM_015426	NP_001155053	Q8NBT0	POC1A_HUMAN	Homo sapiens POC1 centriolar protein homolog A (Chlamydomonas) (POC1A), transcript variant 1, mRNA.	327						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AGCCACTTACCAGATTCCCCA	0.547													T	52156395	C	T	52156395	2	4	161	1	0	0	0	0	0	0	0	1	12252	608	21	2		2	POC1A	3	52156395	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	3645850	52156395	145866035	12	11210											
EPHA6	285220	broad.mit.edu	37	chr3	97124120	97124120	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcaagtactatgagaaagTaggtcttatttggagcttcc	12	13	10	6	0	2	1	1	1	1	1	3	4	3	2	1	2	2	3	1	2	6	6			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:97124120T>A	uc010how.1	+	6	1774	c.1731_splice	c.e6+2	p.K577_splice		NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	482						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TATGAGAAAGTAGGTCTTATT	0.353													A	97124120	T	A	97124120	5	1	161	1	0	0	0	0	0	0	1	0	5212	1652	57	5	1755	5	EPHA6	3	97124120	Splice_Site	SNP	T	TCGA-19-4068-01A-01D-1353-08	44967725	97124120	100898310	13	11211											
IMPG2	50939	broad.mit.edu	37	chr3	100964883	100964883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggaggaccagagctgaaatCaagtggtggaatactgctgg	12	7	16	6	0	1	2	1	1	0	1	1	5	1	5	1	5	3	2	1	5	4	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:100964883C>G	uc003duq.2	-	11	1509	c.1306G>C	c.(1306-1308)Gat>Cat	p.D436H	IMPG2_uc011bhe.2_Missense_Mutation_p.D299H	NM_016247	NP_057331	Q9BZV3	IMPG2_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 2 (IMPG2), mRNA.	436					visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GAGCTGAAATCAAGTGGTGGA	0.468													G	100964883	C	G	100964883	3	3	161	1	0	0	0	0	1	0	0	0	7787	826	29	4	2451	4	IMPG2	3	100964883	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	3840763	100964883	97057547	14	11212											
CASR	846	broad.mit.edu	37	chr3	122003194	122003194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagtcccggaagctgcCggagaacttcaatgaagcca	12	7	10	12	2	2	2	2	1	0	1	3	4	3	3	3	2	4	1	3	2	5	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:122003194C>T	uc003eew.4	+	6	2861	c.2423C>T	c.(2422-2424)cCg>cTg	p.P808L	CASR_uc003eev.4_Missense_Mutation_p.P798L	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	798					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGGAAGCTGCCGGAGAACTTC	0.552													T	122003194	C	T	122003194	3	4	161	1	0	0	0	0	1	0	0	0	2708	652	23	1	2445	1	CASR	3	122003194	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	21038311	122003194	76019236	15	11213											
PLXNA1	5361	broad.mit.edu	37	chr3	126708342	126708342	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgagttccccattggctgCgagcaggcgggtgtggagta	6	10	17	8	2	0	1	0	1	0	0	1	3	1	2	2	4	2	5	2	4	1	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:126708342C>T	uc003ejg.3	+	0	906	c.906C>T	c.(904-906)tgC>tgT	p.C302C		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	302	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCATTGGCTGCGAGCAGGCGG	0.662													T	126708342	C	T	126708342	2	4	161	1	0	0	0	0	0	0	0	1	12196	776	27	1		1	PLXNA1	3	126708342	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	4705148	126708342	71314088	16	11214											
THPO	7066	broad.mit.edu	37	chr3	184090840	184090840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggtgggtggggcccGcctgacgcagagggtggacc	5	6	20	10	2	0	2	0	1	0	1	0	3	0	3	3	6	1	2	3	6	0	0	rs144953270		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr3:184090840G>A	uc003fol.1	-	5	738	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	THPO_uc003fom.2_Missense_Mutation_p.R171W|THPO_uc021xii.1_Missense_Mutation_p.A169V|THPO_uc003fon.3_Intron|THPO_uc011bro.2_Intron|THPO_uc003fop.3_Intron|THPO_uc011brp.2_Intron|THPO_uc011brq.2_Intron|THPO_uc003for.1_Intron|THPO_uc003fos.1_Intron	NM_000460	NP_000451	P40225	TPO_HUMAN	Homo sapiens thrombopoietin (THPO), transcript variant 1, mRNA.	175					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTGGGGCCCGCCTGACGCAG	0.562													A	184090840	G	A	184090840	3	1	161	1	0	0	0	0	1	0	0	0	15972	1087	38	1	542	1	THPO	3	184090840	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	57382498	184090840	13931590	17	11215											
DEFB131	644414	broad.mit.edu	37	chr4	9452176	9452176	+	Frame_Shift_Del	DEL	G	G	-																															tgaacatgcaattagatactGtgctgacttcagcatctgct																										TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr4:9452176delG	uc011bwt.2	+	1	149	c.149delG	c.(148-150)tgtfs	p.C50fs		NM_001040448	NP_001035538	P59861	DB131_HUMAN	Homo sapiens defensin, beta 131 (DEFB131), mRNA.	50					defense response to bacterium	extracellular region				lung(2)	2						ATTAGATACTGTGCTGACTTC	0.383													-	9452176	G	-	9452176	7	5	161	1	0	1	0	1	0	0	0	0	4455	1377	48	0	155	0	DEFB131	4	9452176	Frame_Shift_Del	DEL	G	TCGA-19-4068-01A-01D-1353-08		9452176	181702100	18	11216											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163559	163559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagagaagaagctcccGctgtggcagcatgccaggag	11	4	14	12	1	0	2	0	0	0	2	1	4	1	3	3	2	3	4	3	2	2	0	rs114260538	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:163559G>A	uc003jak.2	+	10	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652													A	163559	G	A	163559	2	1	161	1	0	0	0	0	0	0	0	1	12149	1074	38	1		1	PLEKHG4B	5	163559	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		163559	180751701	19	11217											
MAST4	375449	broad.mit.edu	37	chr5	65892596	65892596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctctccgggtgcttcctCggccgagtcctcctcgggct	1	11	12	17	4	1	0	0	0	1	0	8	1	5	0	6	3	1	2	6	3	0	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:65892596C>T	uc021xzk.1	+	0	421	c.113C>T	c.(112-114)tCg>tTg	p.S38L	MAST4_uc010iwz.3_Missense_Mutation_p.S38L|MAST4_uc003jur.4_Missense_Mutation_p.S38L	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	38						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GGTGCTTCCTCGGCCGAGTCC	0.731													T	65892596	C	T	65892596	3	4	161	1	0	0	0	0	1	0	0	0	9402	893	31	1	115	1	MAST4	5	65892596	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	65729037	65892596	115022664	20	11218											
TAF9	6880	broad.mit.edu	37	chr5	68647987	68647987	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgggcagctgatgcacGatttcttccttgtaggatgc	7	14	11	9	1	1	1	0	1	1	0	2	3	2	2	1	2	4	4	1	2	2	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:68647987G>T	uc003jwa.3	-	4	512	c.420C>A	c.(418-420)atC>atA	p.I140I	TAF9_uc003jwb.3_Silent_p.I137I	NM_016283	NP_057367	Q9Y3D8	KAD6_HUMAN	Homo sapiens TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa (TAF9), transcript variant 2, mRNA.	140						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		GCTGATGCACGATTTCTTCCT	0.373													T	68647987	G	T	68647987	2	4	161	1	0	0	0	0	0	0	0	1	15632	1048	37	4		4	TAF9	5	68647987	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	2755391	68647987	112267273	21	11219											
SLCO6A1	133482	broad.mit.edu	37	chr5	101794118	101794138	+	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TTCCAAGTTTCAGATCTTTAA	-																															acataaatccttgatattagTtccaagtttcagatctttaa																										TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:101794118_101794138delTTCCAAGTTTCAGATCTTTAA	uc003knn.3	-	5	1251_1271	c.1079_1099delTTAAAGATCTGAAACTTGGAA	c.(1078-1101)cttaaagatctgaaacttggaact>cct	p.360_367LKDLKLGT>P	SLCO6A1_uc003kno.3_Intron|SLCO6A1_uc003knp.3_In_Frame_Del_p.360_367LKDLKLGT>P|SLCO6A1_uc003knq.3_In_Frame_Del_p.298_305LKDLKLGT>P	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	360						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		TTGATATTAGTTCCAAGTTTCAGATCTTTAAGTCTGCTGTC	0.285													-	101794138	TTCCAAGTTTCAGATCTTTAA	-	101794118	7	5	161	1	0	1	0	1	0	0	0	0	14826	1725	60	0	1092	0	SLCO6A1	5	101794118	In_Frame_Del	DEL	TTCCAAGTTTCAGATCTTTAA	TCGA-19-4068-01A-01D-1353-08	33146131	101794118	79121142	22	11220											
SEC24A	10802	broad.mit.edu	37	chr5	134033601	134033601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaggttgtatttctcGgtattcagcaggtagtgtct	6	17	10	8	1	4	0	1	0	3	0	6	0	5	0	1	3	1	5	1	3	3	7			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:134033601G>A	uc003kzs.3	+	14	2412	c.2120G>A	c.(2119-2121)cGg>cAg	p.R707Q	SEC24A_uc011cxu.2_Missense_Mutation_p.R471Q	NM_021982	NP_068817	O95486	SC24A_HUMAN	Homo sapiens SEC24 family, member A (S. cerevisiae) (SEC24A), transcript variant 1, mRNA.	707					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATTTCTCGGTATTCAGCA	0.383													A	134033601	G	A	134033601	3	1	161	1	0	0	0	0	1	0	0	0	14087	1116	39	1	2178	1	SEC24A	5	134033601	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	32239483	134033601	46881659	23	11221											
SH3RF2	153769	broad.mit.edu	37	chr5	145435652	145435652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttcagaaggtgatccacgGcaaagccgtcccttcaaatc	12	9	8	12	2	2	2	2	1	0	1	5	2	4	2	3	2	1	1	3	2	3	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:145435652G>A	uc003lnt.3	+	7	1669	c.1431G>A	c.(1429-1431)cgG>cgA	p.R477R	SH3RF2_uc011dbl.1_Silent_p.R477R|SH3RF2_uc011dbm.1_5'UTR|SH3RF2_uc003lnu.3_5'UTR|SH3RF2_uc011dbn.1_5'UTR	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	477			R -> Q (in dbSNP:rs35165046).				ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGATCCACGGCAAAGCCGTC	0.562													A	145435652	G	A	145435652	2	1	161	1	0	0	0	0	0	0	0	1	14353	1190	42	2		2	SH3RF2	5	145435652	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	11402051	145435652	35479608	24	11222											
TRIM41	90933	broad.mit.edu	37	chr5	180651777	180651777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccacaaacagcacagcGtggtgccattggaggaggtg	11	5	16	9	1	0	0	0	0	0	0	0	3	0	3	2	5	5	1	2	5	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr5:180651777G>A	uc003mne.2	+	0	1515	c.778G>A	c.(778-780)Gtg>Atg	p.V260M	TRNA_Lys_uc021ykf.1_5'Flank|TRNA_Val_uc021ykg.1_5'Flank|MIR4638_uc021ykh.1_5'Flank|AX748230_uc003mnb.1_Missense_Mutation_p.R39C|TRIM41_uc003mnc.2_Missense_Mutation_p.V260M|TRIM41_uc003mnd.2_Missense_Mutation_p.V260M|TRIM41_uc003mnf.2_Non-coding_Transcript	NM_033549	NP_291027	Q8WV44	TRI41_HUMAN	Homo sapiens tripartite motif containing 41 (TRIM41), transcript variant 1, mRNA.	260						cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGCACAGCGTGGTGCCATT	0.552													A	180651777	G	A	180651777	3	1	161	1	0	0	0	0	1	0	0	0	16617	1145	40	1	780	1	TRIM41	5	180651777	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	35216125	180651777	263483	25	11223											
MCM3	4172	broad.mit.edu	37	chr6	52141940	52141940	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagtggtggggatagctcGgggtgcagtgcaaagcacat	9	7	17	8	1	0	0	0	0	0	0	1	1	0	1	1	5	4	4	1	5	2	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:52141940G>A	uc003pan.1	-	7	1200	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	MCM3_uc011dwu.1_Nonsense_Mutation_p.R318*	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	364	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GGGATAGCTCGGGGTGCAGTG	0.597													A	52141940	G	A	52141940	4	1	161	1	0	0	0	0	0	1	0	0	9462	1124	39	1	1376	1	MCM3	6	52141940	Nonsense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		52141940	118973127	26	11224											
BMP5	653	broad.mit.edu	37	chr6	55684540	55684540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggtccttgtatatcCggaattcagctgctgtcact	6	14	9	12	2	2	0	2	0	0	0	5	1	5	1	3	2	3	4	3	2	3	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:55684540C>T	uc003pcq.3	-	1	1308	c.596G>A	c.(595-597)cGg>cAg	p.R199Q	BMP5_uc011dxf.2_Missense_Mutation_p.R199Q	NM_021073	NP_066551	P22003	BMP5_HUMAN	Homo sapiens bone morphogenetic protein 5 (BMP5), mRNA.	199					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTGTATATCCGGAATTCAGC	0.368													T	55684540	C	T	55684540	3	4	161	1	0	0	0	0	1	0	0	0	1469	652	23	1	792	1	BMP5	6	55684540	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	3542600	55684540	115430527	27	11225											
NOX3	50508	broad.mit.edu	37	chr6	155764472	155764472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcccagcttggaaagtgCggccagaagtccctgggcct	7	8	14	12	1	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	2	2	rs142034685		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr6:155764472C>T	uc003qqm.3	-	4	524	c.421G>A	c.(421-423)Gca>Aca	p.A141T		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	141	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		TTGGAAAGTGCGGCCAGAAGT	0.577													T	155764472	C	T	155764472	3	4	161	1	0	0	0	0	1	0	0	0	10633	768	27	1	1321	1	NOX3	6	155764472	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	100079932	155764472	15350595	28	11226											
DTX2	113878	broad.mit.edu	37	chr7	76109950	76109950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaccgtctgcagcttcAtcgagcagcagtttgtccag	7	10	11	13	2	2	0	1	0	1	0	4	1	3	0	3	0	5	5	3	0	0	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:76109950A>G	uc011kgk.1	+						DTX2_uc003uff.4_Missense_Mutation_p.I42V|DTX2_uc003ufg.4_Missense_Mutation_p.I42V|DTX2_uc003ufh.4_Missense_Mutation_p.I42V|DTX2_uc003ufj.4_Missense_Mutation_p.I42V	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.						Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CTGCAGCTTCATCGAGCAGCA	0.662													G	76109950	A	G	76109950	3	3	161	1	0	0	0	0	1	0	0	0	4833	217	8	3	126	3	DTX2	7	76109950	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08		76109950	83028713	29	11227											
CALCR	799	broad.mit.edu	37	chr7	93067382	93067382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattctcaccacaagtgccGccatgacaggtccatggatt	11	10	8	12	1	1	1	1	1	1	0	3	2	2	2	4	2	1	0	4	2	2	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:93067382G>A	uc003umv.2	-	12	1322	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A307V|CALCR_uc003umw.2_Missense_Mutation_p.A307V	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	323					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.A341V(1)|p.A307V(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CACAAGTGCCGCCATGACAGG	0.348													A	93067382	G	A	93067382	3	1	161	1	0	0	0	0	1	0	0	0	2605	1087	38	1	520	1	CALCR	7	93067382	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	16957432	93067382	66071281	30	11228											
LAMB1	3912	broad.mit.edu	37	chr7	107600245	107600245	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccgttgggatcacacacGgaacttaacgaaccctgagg	11	7	10	13	3	1	1	1	1	0	0	2	4	2	3	3	3	3	1	3	3	3	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr7:107600245G>A	uc003vev.2	-	16	2582	c.2421C>T	c.(2419-2421)tcC>tcT	p.S807S	LAMB1_uc003vew.2_Silent_p.S783S|LAMB1_uc003vex.3_Silent_p.S783S	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	783	Laminin EGF-like 6.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GATCACACACGGAACTTAACG	0.572													A	107600245	G	A	107600245	2	1	161	1	0	0	0	0	0	0	0	1	8669	1103	39	1		1	LAMB1	7	107600245	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	14532863	107600245	51538418	31	11229											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24251644	24251644	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagaggaaattaccaCgaaacctgagaacatggtag	17	5	12	7	1	0	3	0	1	0	3	0	7	0	4	2	3	3	1	2	3	5	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:24251644C>G	uc003xdz.2	+	3	567	c.347C>G	c.(346-348)aCg>aGg	p.T116R	ADAMDEC1_uc010lub.2_Missense_Mutation_p.T37R|ADAMDEC1_uc011lab.1_Missense_Mutation_p.T37R	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	116					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		GAAATTACCACGAAACCTGAG	0.463													G	24251644	C	G	24251644	3	3	161	1	0	0	0	0	1	0	0	0	254	536	19	4	361	4	ADAMDEC1	8	24251644	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		24251644	122112378	32	11230											
FZD3	7976	broad.mit.edu	37	chr8	28385048	28385048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttcttcattggatttttGcttgaagatcgagtagcctg	8	18	9	6	1	2	2	1	1	1	1	3	4	2	3	1	1	2	2	1	1	2	8			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:28385048G>A	uc003xgx.3	+	4	1300	c.771G>A	c.(769-771)ttG>ttA	p.L257L	FZD3_uc010lvb.3_Silent_p.L257L	NM_017412	NP_665873	Q9NPG1	FZD3_HUMAN	Homo sapiens frizzled family receptor 3 (FZD3), transcript variant 1, mRNA.	257					canonical Wnt receptor signaling pathway|cell proliferation in midbrain|commissural neuron axon guidance|establishment of planar polarity|facial nucleus development|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|neural tube closure|vasculature development	apical part of cell|axon|cytoplasm|dendrite|integral to membrane|neuron projection membrane|neuronal cell body|presynaptic active zone	G-protein coupled receptor activity|PDZ domain binding|Wnt-protein binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(15)|ovary(1)|prostate(1)|skin(1)	41		Ovarian(32;2.06e-05)		KIRC - Kidney renal clear cell carcinoma(542;0.109)|Kidney(114;0.13)|Colorectal(74;0.23)		TTGGATTTTTGCTTGAAGATC	0.378													A	28385048	G	A	28385048	2	1	161	1	0	0	0	0	0	0	0	1	6183	1310	46	2		2	FZD3	8	28385048	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	4133404	28385048	117978974	33	11231											
GPR124	25960	broad.mit.edu	37	chr8	37693258	37693258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcaagaggcgtggcGtggccacccccgtcatcttc	5	7	14	15	3	2	1	1	0	1	1	3	1	2	1	4	5	0	1	4	5	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:37693258G>A	uc003xkj.3	+	12	2406	c.2020G>A	c.(2020-2022)Gtg>Atg	p.V674M	GPR124_uc010lvy.3_Intron	NM_032777	NP_116166	Q96PE1	GP124_HUMAN	Homo sapiens G protein-coupled receptor 124 (GPR124), mRNA.	674					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GAGGCGTGGCGTGGCCACCCC	0.652													A	37693258	G	A	37693258	3	1	161	1	0	0	0	0	1	0	0	0	6692	1145	40	1	2049	1	GPR124	8	37693258	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	9308210	37693258	108670764	34	11232											
VPS13B	157680	broad.mit.edu	37	chr8	100874087	100874087	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgaggagcactacaacCggcaggaggagtggcggcgg	10	4	19	8	3	0	1	0	1	0	0	0	5	0	5	1	8	3	2	1	8	2	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:100874087C>A	uc003yiv.3	+	57	11314	c.11203C>A	c.(11203-11205)Cgg>Agg	p.R3735R	VPS13B_uc003yiw.3_Silent_p.R3710R	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	3735					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GCACTACAACCGGCAGGAGGA	0.657													A	100874087	C	A	100874087	2	1	161	1	0	0	0	0	0	0	0	1	17292	643	23	4		4	VPS13B	8	100874087	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	63180829	100874087	45489935	35	11233											
PKHD1L1	93035	broad.mit.edu	37	chr8	110463211	110463211	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctttcataggcacgggAgctgagcaagcctgtgaagt	9	10	12	10	1	1	2	1	2	0	0	2	3	2	3	2	2	3	3	2	2	3	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr8:110463211A>T	uc003yne.3	+	40	6287	c.6183A>T	c.(6181-6183)ggA>ggT	p.G2061G		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	2061	IPT/TIG 13.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TAGGCACGGGAGCTGAGCAAG	0.458										HNSCC(38;0.096)	OREG0018931	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	110463211	A	T	110463211	2	4	161	1	0	0	0	0	0	0	0	1	12049	291	11	5		5	PKHD1L1	8	110463211	Silent	SNP	A	TCGA-19-4068-01A-01D-1353-08	9589124	110463211	35900811	36	11234											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653179	130653179	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtaggtggtcttgttgccCacatcagctgagtagccagt	7	11	13	10	1	2	1	1	1	1	0	2	1	2	1	2	3	3	4	2	3	2	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr9:130653179C>A	uc004bsp.1	-	4	560	c.441G>T	c.(439-441)gtG>gtT	p.V147V	ST6GALNAC6_uc004bsn.1_Silent_p.V113V|ST6GALNAC6_uc011man.1_Intron|ST6GALNAC6_uc004bso.1_Silent_p.V147V|ST6GALNAC6_uc004bsq.1_Silent_p.V113V|ST6GALNAC6_uc004bsr.2_Silent_p.V113V|ST6GALNAC6_uc010mxp.1_Non-coding_Transcript			Q969X2	SIA7F_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6 (ST6GALNAC6), mRNA.	147					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCTTGTTGCCCACATCAGCTG	0.607													A	130653179	C	A	130653179	2	1	161	1	0	0	0	0	0	0	0	1	15324	581	21	4		4	ST6GALNAC6	9	130653179	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08		130653179	10560252	37	11235											
PLXDC2	84898	broad.mit.edu	37	chr10	20453469	20453469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgtccgatgcatttgtcGttgtccacaggatccaacaa	10	11	9	11	2	0	0	0	0	0	0	4	3	3	1	3	1	2	2	3	1	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:20453469G>A	uc001iqg.1	+	6	1493	c.856G>A	c.(856-858)Gtt>Att	p.V286I	PLXDC2_uc001iqh.1_Missense_Mutation_p.V237I|PLXDC2_uc009xkc.1_Non-coding_Transcript	NM_032812	NP_116201	Q6UX71	PXDC2_HUMAN	Homo sapiens plexin domain containing 2 (PLXDC2), mRNA.	286						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						TGCATTTGTCGTTGTCCACAG	0.443													A	20453469	G	A	20453469	3	1	161	1	0	0	0	0	1	0	0	0	12195	1145	40	1	882	1	PLXDC2	10	20453469	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		20453469	115081278	38	11236											
MYO3A	53904	broad.mit.edu	37	chr10	26463063	26463063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actttggaacctacacttagCcaaaggtcaatttatcaaaa	16	11	5	9	0	2	0	2	0	0	0	2	1	2	1	2	2	3	0	2	2	8	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:26463063C>T	uc001isn.2	+	29	4230	c.3870C>T	c.(3868-3870)agC>agT	p.S1290S	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1290					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTACACTTAGCCAAAGGTCAA	0.428													T	26463063	C	T	26463063	2	4	161	1	0	0	0	0	0	0	0	1	10152	738	26	2		2	MYO3A	10	26463063	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	6009594	26463063	109071684	39	11237											
DKK1	22943	broad.mit.edu	37	chr10	54076434	54076434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagtgtgtaccaagcAtaggagaaaaggctctcatg	14	8	12	7	0	2	1	2	0	1	1	3	2	2	1	1	3	2	3	1	3	6	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:54076434A>G	uc001jjr.3	+	3	822	c.668A>G	c.(667-669)cAt>cGt	p.H223R	LOC100506939_uc009xox.2_5'Flank	NM_012242	NP_036374	O94907	DKK1_HUMAN	Homo sapiens dickkopf 1 homolog (Xenopus laevis) (DKK1), mRNA.	223	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						TGTACCAAGCATAGGAGAAAA	0.463													G	54076434	A	G	54076434	3	3	161	1	0	0	0	0	1	0	0	0	4583	217	8	3	682	3	DKK1	10	54076434	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	27613371	54076434	81458313	40	11238											
TMEM26	219623	broad.mit.edu	37	chr10	63170245	63170245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctgactgacttctcaaCgaagcacggactgccaatgc	10	9	8	14	2	2	2	1	2	2	0	3	4	2	3	2	1	4	1	2	1	3	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:63170245C>T	uc001jlo.2	-	5	1311	c.942G>A	c.(940-942)tcG>tcA	p.S314S	TMEM26_uc001jlp.1_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	314						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GACTTCTCAACGAAGCACGGA	0.557													T	63170245	C	T	63170245	2	4	161	1	0	0	0	0	0	0	0	1	16251	523	19	1		1	TMEM26	10	63170245	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	9093811	63170245	72364502	41	11239											
RUFY2	55680	broad.mit.edu	37	chr10	70154149	70154149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattcaggccaaccagcAgcccaacaattactgctcct	12	8	5	16	0	2	0	2	0	0	0	3	0	3	0	4	1	6	2	4	1	4	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:70154149A>G	uc001job.3	-	4	890	c.563T>C	c.(562-564)cTg>cCg	p.L188P	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joc.3_Missense_Mutation_p.L119P|RUFY2_uc010qiw.2_Missense_Mutation_p.L95P|RUFY2_uc001jod.1_Missense_Mutation_p.L153P|RUFY2_uc009xpv.1_Missense_Mutation_p.L36P|RUFY2_uc001joe.1_Missense_Mutation_p.L153P	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	202	RUN.					nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						GCCAACCAGCAGCCCAACAAT	0.383													G	70154149	A	G	70154149	3	3	161	1	0	0	0	0	1	0	0	0	13830	188	7	3	1531	3	RUFY2	10	70154149	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	6983904	70154149	65380598	42	11240											
COL17A1	1308	broad.mit.edu	37	chr10	105815707	105815707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatagggcagtatgctcCtcctgatcctctccagctca	7	10	7	17	0	2	1	1	1	1	0	6	1	5	1	6	1	2	4	6	1	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr10:105815707C>A	uc001kxr.3	-	17	1689	c.1520G>T	c.(1519-1521)aGg>aTg	p.R507M	COL17A1_uc010qqv.1_Missense_Mutation_p.R491M	NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	507	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CAGTATGCTCCTCCTGATCCT	0.597													A	105815707	C	A	105815707	3	1	161	1	0	0	0	0	1	0	0	0	3705	681	24	4	3129	4	COL17A1	10	105815707	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	35661558	105815707	29719040	43	11241											
UBQLN3	50613	broad.mit.edu	37	chr11	5529360	5529360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataagccggggatggcaGccagggaggctcagggattc	9	6	18	8	1	1	0	1	0	0	0	2	4	1	4	2	7	2	2	2	7	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:5529360G>A	uc021qcw.1	-	0	1429	c.1429C>T	c.(1429-1431)Ctg>Ttg	p.L477L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Silent_p.L477L	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	477										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGGGATGGCAGCCAGGGAGGC	0.552													A	5529360	G	A	5529360	2	1	161	1	0	0	0	0	0	0	0	1	17000	962	34	2		2	UBQLN3	11	5529360	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		5529360	129477156	44	11242											
DCHS1	8642	broad.mit.edu	37	chr11	6646055	6646055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgatcagtggcagagacGgagagaatggcactgcctgg	10	6	15	10	2	1	2	1	0	0	2	2	6	2	3	2	4	1	2	2	4	1	0			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:6646055G>A	uc001mem.1	-	19	7592	c.7191C>T	c.(7189-7191)tcC>tcT	p.S2397S	DCHS1_uc021qdb.1_5'Flank	NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	2397	Cadherin 23.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCAGAGACGGAGAGAATGG	0.557													A	6646055	G	A	6646055	2	1	161	1	0	0	0	0	0	0	0	1	4321	1103	39	1		1	DCHS1	11	6646055	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	1116695	6646055	128360461	45	11243											
RAG1	5896	broad.mit.edu	37	chr11	36597064	36597064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctttgtgatgccacccGtctggaagcctctcaaaatc	9	12	7	13	1	3	1	1	1	3	0	5	2	3	2	3	1	3	0	3	1	4	2	rs104894286		TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:36597064G>A	uc021qgb.1	+	0	2210	c.2210G>A	c.(2209-2211)cGt>cAt	p.R737H	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Missense_Mutation_p.R737H	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	737			R -> H (in OS and CHIDG; reduced recombination activity when associated with T-507).		histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GATGCCACCCGTCTGGAAGCC	0.502									Familial Hemophagocytic Lymphohistiocytosis				A	36597064	G	A	36597064	3	1	161	1	0	0	0	0	1	0	0	0	13091	1145	40	1	2212	1	RAG1	11	36597064	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	29951009	36597064	98409452	46	11244											
OR5D18	219438	broad.mit.edu	37	chr11	55587399	55587399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatttcatttttaggatgCgtagtacaattctttttctt	9	20	5	7	1	3	0	1	0	2	0	3	1	3	1	1	1	2	2	1	1	4	10	rs147156620	by1000genomes	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55587399C>T	uc010rin.2	+	0	294	c.294C>T	c.(292-294)tgC>tgT	p.C98C		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TTTTAGGATGCGTAGTACAAT	0.433													T	55587399	C	T	55587399	2	4	161	1	0	0	0	0	0	0	0	1	11233	776	27	1		1	OR5D18	11	55587399	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	18990335	55587399	79419117	47	11245											
OR8J3	81168	broad.mit.edu	37	chr11	55904467	55904467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgactgctatcatatgcGaagcgcaggtggaaaaggct	11	8	13	9	3	1	1	1	1	0	0	1	3	1	2	1	3	3	3	1	3	5	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:55904467G>A	uc010riz.2	-	0	728	c.728C>T	c.(727-729)tCg>tTg	p.S243L		NM_001004064	NP_001004064	Q8NGG0	OR8J3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily J, member 3 (OR8J3), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A242T(1)|p.S243S(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATCATATGCGAAGCGCAGGT	0.403													A	55904467	G	A	55904467	3	1	161	1	0	0	0	0	1	0	0	0	11318	1059	37	1	221	1	OR8J3	11	55904467	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	317068	55904467	79102049	48	11246											
SLC43A3	29015	broad.mit.edu	37	chr11	57193641	57193641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggcaggccctggcccGccatgagcagaagtggagtg	8	4	18	11	1	0	2	0	1	0	1	0	3	0	3	3	5	1	3	3	5	1	0			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:57193641G>A	uc010rjr.2	-	2	347	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SLC43A3_uc001nke.3_5'Flank|SLC43A3_uc001nkg.3_Missense_Mutation_p.A2V|SLC43A3_uc001nkh.3_Missense_Mutation_p.A2V|SLC43A3_uc009yme.3_Missense_Mutation_p.A2V|SLC43A3_uc001nki.3_Missense_Mutation_p.A2V|SLC43A3_uc009ymf.1_Missense_Mutation_p.A2V|SLC43A3_uc010rjs.1_Missense_Mutation_p.A2V|SLC43A3_uc009ymg.1_Missense_Mutation_p.A2V	NM_199329	NP_955361	Q8NBI5	S43A3_HUMAN	Homo sapiens solute carrier family 43, member 3 (SLC43A3), mRNA.	2					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GCCCTGGCCCGCCATGAGCAG	0.587													A	57193641	G	A	57193641	3	1	161	1	0	0	0	0	1	0	0	0	14728	1087	38	1	1518	1	SLC43A3	11	57193641	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	1289174	57193641	77812875	49	11247											
DYNC2H1	79659	broad.mit.edu	37	chr11	103006524	103006524	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagaaatgaagagattcatCggcattccaaatcagtttaa	17	10	8	6	1	2	3	2	1	0	2	4	5	3	3	1	1	0	2	1	1	4	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr11:103006524C>T	uc001phn.1	+	16	2565	c.2421C>T	c.(2419-2421)atC>atT	p.I807I	DYNC2H1_uc009yxe.1_Intron|DYNC2H1_uc001pho.2_Silent_p.I807I	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	807	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGAGATTCATCGGCATTCCAA	0.343													T	103006524	C	T	103006524	2	4	161	1	0	0	0	0	0	0	0	1	4885	874	31	1		1	DYNC2H1	11	103006524	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	45812883	103006524	31999992	50	11248											
CD163L1	283316	broad.mit.edu	37	chr12	7519881	7519881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcttgaggcaggtctccatCtcatggaataaattctcctc	9	13	7	12	0	4	1	1	1	4	0	8	2	4	2	2	3	0	1	2	3	3	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:7519881C>T	uc010sge.2	-	17	4286	c.4260G>A	c.(4258-4260)gaG>gaA	p.E1420E	CD163L1_uc001qsy.3_Silent_p.E1410E	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1410						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGTCTCCATCTCATGGAATA	0.498													T	7519881	C	T	7519881	2	4	161	1	0	0	0	0	0	0	0	1	2998	912	32	2		2	CD163L1	12	7519881	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08		7519881	126332014	51	11249											
KRT18	3875	broad.mit.edu	37	chr12	53346096	53346096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagatcgccacctaccGccgcctgctggaagatggcg	7	6	14	14	4	0	2	0	1	0	2	1	4	0	3	5	3	2	2	5	3	2	1	rs147541172	byFrequency	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:53346096G>A	uc001sbe.3	+	6	1211	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	KRT18_uc009zmn.2_Missense_Mutation_p.R381H|KRT18_uc001sbg.3_Missense_Mutation_p.R381H|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	381	Coil 2.|Interaction with DNAJB6.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCCACCTACCGCCGCCTGCTG	0.602													A	53346096	G	A	53346096	3	1	161	1	0	0	0	0	1	0	0	0	8513	1087	38	1	1164	1	KRT18	12	53346096	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	45826215	53346096	80505799	52	11250											
ACACB	32	broad.mit.edu	37	chr12	109693958	109693958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagctctgaagggaacGtggcagagcggattctttga	10	9	13	9	2	2	3	0	2	2	1	3	5	3	5	1	3	3	2	1	3	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:109693958G>A	uc001tob.3	+	44	6299	c.6180G>A	c.(6178-6180)acG>acA	p.T2060T	ACACB_uc001toc.3_Silent_p.T2060T|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Silent_p.T726T	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	2060	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGAAGGGAACGTGGCAGAGCG	0.602													A	109693958	G	A	109693958	2	1	161	1	0	0	0	0	0	0	0	1	107	1132	40	1		1	ACACB	12	109693958	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	56347862	109693958	24157937	53	11251											
PITPNM2	57605	broad.mit.edu	37	chr12	123473301	123473301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggagaccacgtctgtTgactcccagtagctggcgtg	10	8	13	10	2	1	3	0	1	1	2	2	4	2	3	2	2	1	3	2	2	2	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr12:123473301T>C	uc001uej.1	-	17	3049	c.2850A>G	c.(2848-2850)tcA>tcG	p.S950S	PITPNM2_uc001uek.1_Silent_p.S944S	NM_020845	NP_065896	Q9BZ72	PITM2_HUMAN	Homo sapiens phosphatidylinositol transfer protein, membrane-associated 2 (PITPNM2), mRNA.	950	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCACGTCTGTTGACTCCCAGT	0.632													C	123473301	T	C	123473301	2	2	161	1	0	0	0	0	0	0	0	1	12028	1799	63	3		3	PITPNM2	12	123473301	Silent	SNP	T	TCGA-19-4068-01A-01D-1353-08	13779343	123473301	10378594	54	11252											
MYH6	4624	broad.mit.edu	37	chr14	23861788	23861789	+	Frame_Shift_Del	DEL	TC	TC	-																															cacctggttttccttcagttTcttctgtagttgaagggcca																										TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr14:23861788_23861789delTC	uc001wjv.3	-	24	3395_3396	c.3324_3325delGA	c.(3322-3327)aagaaafs	p.K1108fs		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1108					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCTTCAGTTTCTTCTGTAGTT	0.505													-	23861789	TC	-	23861788	7	5	161	1	0	1	0	1	0	0	0	0	10114	1792	62	0	2554	0	MYH6	14	23861788	Frame_Shift_Del	DEL	TC	TCGA-19-4068-01A-01D-1353-08		23861788	83487752	55	11253											
SPTBN5	51332	broad.mit.edu	37	chr15	42160382	42160382	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctgatacacctggtccCgctggtcctgcagggctcga	6	9	13	13	2	1	1	0	1	1	0	4	2	3	1	3	4	2	3	3	4	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:42160382C>A	uc001zos.3	-	33	6320	c.5987G>T	c.(5986-5988)cGg>cTg	p.R1996L	MIR4310_uc021sjo.1_5'Flank	NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2031					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CACCTGGTCCCGCTGGTCCTG	0.642													A	42160382	C	A	42160382	3	1	161	1	0	0	0	0	1	0	0	0	15218	652	23	4	5072	4	SPTBN5	15	42160382	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		42160382	60371010	56	11254											
ATP8B4	79895	broad.mit.edu	37	chr15	50209193	50209193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacacatcattcatgtcGtcagtcagcatgttgcaggc	12	10	8	11	1	4	0	4	0	0	0	5	0	4	0	0	1	3	3	0	1	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:50209193G>A	uc001zxu.3	-	19	2221	c.2079C>T	c.(2077-2079)gaC>gaT	p.D693D	ATP8B4_uc010ber.3_Silent_p.D566D|ATP8B4_uc010ufd.2_Silent_p.D503D|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	693					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATTCATGTCGTCAGTCAGCA	0.408													A	50209193	G	A	50209193	2	1	161	1	0	0	0	0	0	0	0	1	1202	1136	40	1		1	ATP8B4	15	50209193	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	8048811	50209193	52322199	57	11255											
SH3GL3	6457	broad.mit.edu	37	chr15	84257442	84257442	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatccagtgtccccagaCgagaatacaagccaaggcct	12	6	9	14	1	0	2	0	0	0	2	2	3	2	2	5	1	3	1	5	1	4	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr15:84257442C>T	uc002bjw.3	+	7	952	c.757C>T	c.(757-759)Cga>Tga	p.R253*	SH3GL3_uc010uot.1_Nonsense_Mutation_p.R253*|SH3GL3_uc002bjx.3_Nonsense_Mutation_p.R184*|SH3GL3_uc002bju.3_Nonsense_Mutation_p.R261*|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	253	Interaction with ARC (By similarity).				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TGTCCCCAGACGAGAATACAA	0.458													T	84257442	C	T	84257442	4	4	161	1	0	0	0	0	0	1	0	0	14346	528	19	1	787	1	SH3GL3	15	84257442	Nonsense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	34048249	84257442	18273950	58	11256											
DNAH9	1770	broad.mit.edu	37	chr17	11865572	11865572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcctgctgggacacacAggtaaagcttggaatgaacc	12	7	13	9	0	0	1	0	1	0	0	0	3	0	3	2	4	4	3	2	4	4	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:11865572A>G	uc002gne.3	+	68	13301	c.13233_splice	c.e68+1	p.Q4411_splice	DNAH9_uc010coo.3_Splice_Site_p.Q3629_splice|DNAH9_uc002gnf.3_Splice_Site_p.Q723_splice	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	4411					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGGGACACACAGGTAAAGCTT	0.473													G	11865572	A	G	11865572	3	3	161	1	0	0	0	0	1	0	0	0	4647	202	7	3	13502	3	DNAH9	17	11865572	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08		11865572	69329638	59	11257											
ALDH3A1	218	broad.mit.edu	37	chr17	19642827	19642827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaccacccaccttgtcGttgctggagaacatgtagag	9	8	11	13	1	0	2	0	0	0	2	1	3	0	2	4	2	2	3	4	2	2	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:19642827G>A	uc002gwk.3	-	5	1724	c.1461C>T	c.(1459-1461)aaC>aaT	p.N487N	ALDH3A1_uc010cqu.3_Silent_p.N370N|ALDH3A1_uc010vzd.2_Silent_p.N370N|ALDH3A1_uc002gwj.3_Silent_p.N370N|ALDH3A1_uc010cqv.3_Silent_p.N369N|ALDH3A1_uc002gwl.1_Silent_p.N297N			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	370					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCACCTTGTCGTTGCTGGAGA	0.632													A	19642827	G	A	19642827	2	1	161	1	0	0	0	0	0	0	0	1	497	1136	40	1		1	ALDH3A1	17	19642827	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	7777255	19642827	61552383	60	11258											
DNAI2	64446	broad.mit.edu	37	chr17	72283178	72283178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagagtatttcaatgaCgaggaggccatggaagtgat	14	10	13	4	1	1	4	1	3	0	1	1	7	1	6	1	3	0	1	1	3	5	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr17:72283178C>T	uc002jkf.3	+	3	518	c.408C>T	c.(406-408)gaC>gaT	p.D136D	DNAI2_uc002jkg.3_Silent_p.D136D|DNAI2_uc010dfp.3_Intron	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	136					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ATTTCAATGACGAGGAGGCCA	0.507									Kartagener syndrome				T	72283178	C	T	72283178	2	4	161	1	0	0	0	0	0	0	0	1	4649	535	19	1		1	DNAI2	17	72283178	Silent	SNP	C	TCGA-19-4068-01A-01D-1353-08	52640351	72283178	8912032	61	11259											
AFG3L2	10939	broad.mit.edu	37	chr18	12356814	12356814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcccagtgcctggaggaCcagtgagaatggcacccttc	8	9	11	13	0	1	1	0	1	1	1	3	4	2	3	4	3	1	1	4	3	1	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:12356814C>G	uc002kqz.2	-	8	1237	c.1043G>C	c.(1042-1044)gGt>gCt	p.G348A		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	348					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	GCCTGGAGGACCAGTGAGAAT	0.418													G	12356814	C	G	12356814	3	3	161	1	0	0	0	0	1	0	0	0	360	507	18	4	1386	4	AFG3L2	18	12356814	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		12356814	65720434	62	11260											
DSG4	147409	broad.mit.edu	37	chr18	28986155	28986155	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcacaaatggtgcagttAtatgcctgtgattgcgatga	10	13	12	6	1	0	2	0	2	0	0	0	3	0	2	1	2	3	3	1	2	3	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr18:28986155A>G	uc002kwr.2	+	11	1887	c.1752A>G	c.(1750-1752)ttA>ttG	p.L584L	DSG4_uc002kwq.2_Silent_p.L584L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	584					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGGTGCAGTTATATGCCTGTG	0.483													G	28986155	A	G	28986155	2	3	161	1	0	0	0	0	0	0	0	1	4818	446	16	3		3	DSG4	18	28986155	Silent	SNP	A	TCGA-19-4068-01A-01D-1353-08	16629341	28986155	49091093	63	11261											
THEG	51298	broad.mit.edu	37	chr19	362390	362390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctcccagcgaggatctCggtcaggaacgcacttgtcc	8	7	11	15	3	2	0	1	0	1	0	5	3	4	2	3	3	2	2	3	3	1	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:362390C>T	uc002lol.3	-	7	993	c.950G>A	c.(949-951)cGa>cAa	p.R317Q	THEG_uc002lom.3_Missense_Mutation_p.R293Q	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	317					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		GCGAGGATCTCGGTCAGGAAC	0.597													T	362390	C	T	362390	3	4	161	1	0	0	0	0	1	0	0	0	15957	884	31	1	193	1	THEG	19	362390	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		362390	58766593	64	11262											
GPX4	2879	broad.mit.edu	37	chr19	1105195	1105195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttgcagtgcgcgtcccGggacgactggcgctgtgcgc	3	8	16	14	6	0	0	0	0	0	0	1	2	1	1	2	2	4	2	2	2	0	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:1105195G>A	uc021umh.1	+	1	291	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	GPX4_uc021umg.1_Missense_Mutation_p.R32Q|GPX4_uc021umf.1_Missense_Mutation_p.R32Q	NM_001039848	NP_002076	P36969	GPX4_HUMAN	Homo sapiens glutathione peroxidase 4 (phospholipid hydroperoxidase) (GPX4), transcript variant 3, mRNA.	32					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)	Glutathione(DB00143)	TGCGCGTCCCGGGACGACTGG	0.672													A	1105195	G	A	1105195	3	1	161	1	0	0	0	0	1	0	0	0	6797	1116	39	1	300	1	GPX4	19	1105195	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	742805	1105195	58023788	65	11263											
CD209	30835	broad.mit.edu	37	chr19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgccactaaattccgCgcagtcttcctccccaacgt	8	10	6	17	3	1	0	0	0	1	0	4	0	4	0	6	0	2	1	6	0	3	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:7808071C>T	uc002mht.2	-	6	1136	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_uc010xju.1_Missense_Mutation_p.A196T|CD209_uc010dvp.2_Missense_Mutation_p.R295H|CD209_uc002mhr.2_Missense_Mutation_p.A333T|CD209_uc002mhs.2_Missense_Mutation_p.A287T|CD209_uc002mhu.2_Missense_Mutation_p.A265T|CD209_uc010dvq.2_Missense_Mutation_p.A351T|CD209_uc002mhq.2_Missense_Mutation_p.A357T|CD209_uc002mhv.2_Missense_Mutation_p.A333T|CD209_uc002mhx.2_Missense_Mutation_p.A313T|CD209_uc002mhw.2_Missense_Mutation_p.A221T|CD209_uc010dvr.2_Missense_Mutation_p.A121T	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	357	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													T	7808071	C	T	7808071	3	4	161	1	0	0	0	0	1	0	0	0	3014	768	27	1	149	1	CD209	19	7808071	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	6702876	7808071	51320912	66	11264											
MUC16	94025	broad.mit.edu	37	chr19	9072932	9072932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattcaaatgctgaaccGgtggtccccacattggtaac	10	11	10	10	1	1	2	1	2	0	0	2	2	2	2	3	3	3	2	3	3	3	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:9072932G>A	uc002mkp.3	-	2	14718	c.14514C>T	c.(14512-14514)acC>acT	p.T4838T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4840	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T4837T(1)		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						ATGCTGAACCGGTGGTCCCCA	0.463													A	9072932	G	A	9072932	2	1	161	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC16	19	9072932	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	1264861	9072932	50056051	67	11265											
ZNF345	25850	broad.mit.edu	37	chr19	37368940	37368940	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctatgaatgtaaagaatGtggaaagtcctttagtagtg	14	12	10	5	0	0	2	0	1	0	1	1	3	1	3	2	1	0	2	2	1	8	5			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:37368940G>C	uc002oex.3	+	2	1589	c.1208G>C	c.(1207-1209)tGt>tCt	p.C403S	ZNF345_uc021utn.1_Missense_Mutation_p.C403S|ZNF345_uc002oey.4_Missense_Mutation_p.C403S|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.C403S|ZNF345_uc021utp.1_Missense_Mutation_p.C403S|ZNF345_uc021utq.1_Missense_Mutation_p.C403S	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	403					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding	p.E402Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTAAAGAATGTGGAAAGTCC	0.418													C	37368940	G	C	37368940	3	2	161	1	0	0	0	0	1	0	0	0	17960	1377	48	4	1210	4	ZNF345	19	37368940	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	28296008	37368940	21760043	68	11266											
KLC3	147700	broad.mit.edu	37	chr19	45849928	45849929	+	Frame_Shift_Ins	INS	-	-	G																															actggaggagacgcagcggcINSggcttcgggccagcgaggag																								rs141629020	by1000genomes	TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:45849928_45849929insG	uc002pbg.1	+	1	527_528	c.427_428insG	c.(427-429)cggfs	p.R143fs	KLC3_uc002pbe.3_Frame_Shift_Ins_p.R129fs|KLC3_uc002pbf.1_Frame_Shift_Ins_p.R129fs|KLC3_uc010ejy.1_Frame_Shift_Ins_p.R129fs	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	129						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GACGCAGCGGCGGCTTCGGGCC	0.713													G	45849929	-	G	45849928	7	5	161	1	0	1	1	0	0	0	0	0	8393	759	27	0	391	0	KLC3	19	45849928	Frame_Shift_Ins	INS	-	TCGA-19-4068-01A-01D-1353-08	8480988	45849928	13279055	69	11267											
KIR3DL2	3811	broad.mit.edu	37	chr19	55341632	55341632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacacagagaaaaatcactCgcccttctcagaggcccaag	14	6	7	14	1	3	2	3	0	1	2	5	3	3	2	2	1	0	0	2	1	3	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr19:55341632C>T	uc002qhm.1	+						KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.R413C|KIR3DL2_uc010esf.3_Missense_Mutation_p.R318C|KIR3DL2_uc021vbo.1_Missense_Mutation_p.R396C|KIR3DL2_uc002qhk.4_Missense_Mutation_p.R413C|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_5'Flank	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.						cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		AAAAATCACTCGCCCTTCTCA	0.507													T	55341632	C	T	55341632	3	4	161	1	0	0	0	0	1	0	0	0	8379	884	31	1		1	KIR3DL2	19	55341632	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	9491704	55341632	3787351	70	11268											
TOP1	7150	broad.mit.edu	37	chr20	39726941	39726941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttcaaagcccagacGgaagctcggaaacagatgag	15	6	11	9	2	1	3	1	1	0	2	2	5	1	5	1	2	3	2	1	2	4	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:39726941G>A	uc002xjl.3	+	10	1185	c.939G>A	c.(937-939)acG>acA	p.T313T		NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	313					DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	AAGCCCAGACGGAAGCTCGGA	0.368			T	NUP98	AML*								A	39726941	G	A	39726941	2	1	161	1	0	0	0	0	0	0	0	1	16464	1103	39	1		1	TOP1	20	39726941	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		39726941	23298579	71	11269											
SLC12A5	57468	broad.mit.edu	37	chr20	44665416	44665416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccatgagtgcaattgcaAcgaatggtgttgtgcctggt	8	13	12	8	1	1	1	0	1	1	0	2	2	1	1	2	2	4	3	2	2	3	2			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr20:44665416A>G	uc010zxl.1	+	4	608	c.532A>G	c.(532-534)Acg>Gcg	p.T178A	SLC12A5_uc002xra.2_Missense_Mutation_p.T155A|SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.T155A	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	178					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TGCAATTGCAACGAATGGTGT	0.612													G	44665416	A	G	44665416	3	3	161	1	0	0	0	0	1	0	0	0	14480	43	2	3	606	3	SLC12A5	20	44665416	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	4938475	44665416	18360104	72	11270											
TFF2	7032	broad.mit.edu	37	chr21	43767708	43767708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggtagccacagtttcttCggtctgagacctccatgacg	7	10	11	13	3	2	2	0	2	2	1	4	3	3	2	4	2	1	2	4	2	1	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:43767708C>T	uc002zaw.3	-	2	405	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_005423	NP_005414	Q03403	TFF2_HUMAN	Homo sapiens trefoil factor 2 (TFF2), mRNA.	88	P-type 2.				digestion	extracellular region				large_intestine(1)|pancreas(1)|urinary_tract(1)	3						ACAGTTTCTTCGGTCTGAGAC	0.602													T	43767708	C	T	43767708	3	4	161	1	0	0	0	0	1	0	0	0	15904	884	31	1	134	1	TFF2	21	43767708	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08		43767708	4362187	73	11271											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45970888	45970888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcagagcaggtgggcaCgcagcacacagctttgcagc	10	6	13	12	1	1	2	1	1	0	1	1	2	1	2	0	2	5	6	0	2	0	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:45970888C>T	uc002zfi.1	-	0	501	c.454G>A	c.(454-456)Gtg>Atg	p.V152M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198693	NP_941966	P60368	KR102_HUMAN	Homo sapiens keratin associated protein 10-2 (KRTAP10-2), mRNA.	152	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CAGGTGGGCACGCAGCACACA	0.617													T	45970888	C	T	45970888	3	4	161	1	0	0	0	0	1	0	0	0	8567	536	19	1	317	1	KRTAP10-2	21	45970888	Missense_Mutation	SNP	C	TCGA-19-4068-01A-01D-1353-08	2203180	45970888	2159007	74	11272											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021573	46021573	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccagcctcctgtgTgtctctcctttgccgccccg	1	11	9	20	3	1	0	0	0	1	0	4	0	3	0	8	0	3	0	8	0	0	1			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr21:46021573T>G	uc002zfn.4	+	1	1062	c.1037T>G	c.(1036-1038)gTg>gGg	p.V346G	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198689	NP_941962	P60409	KR107_HUMAN	Homo sapiens keratin associated protein 10-7 (KRTAP10-7), mRNA.	351	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCCTCCTGTGTGTCTCTCCTT	0.672													G	46021573	T	G	46021573	3	3	161	1	0	0	0	0	1	0	0	0	8572	1696	59	5	1043	5	KRTAP10-7	21	46021573	Missense_Mutation	SNP	T	TCGA-19-4068-01A-01D-1353-08	50685	46021573	2108322	75	11273											
CDC42EP1	11135	broad.mit.edu	37	chr22	37964570	37964570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtccagcccagtgggaGggggtccccgaggacctgct	7	6	16	12	1	0	1	0	1	0	0	2	4	2	3	5	4	2	1	5	4	1	0			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chr22:37964570G>A	uc003asz.4	+	2	1322	c.919G>A	c.(919-921)Ggg>Agg	p.G307R		NM_152243	NP_689449	Q00587	BORG5_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 1 (CDC42EP1), mRNA.	307					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|endomembrane system|Golgi apparatus|plasma membrane	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(4)|prostate(5)	15	Melanoma(58;0.0574)					CCCAGTGGGAGGGGGTCCCCG	0.692													A	37964570	G	A	37964570	3	1	161	1	0	0	0	0	1	0	0	0	3105	1000	35	2	925	2	CDC42EP1	22	37964570	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08		37964570	13339996	76	11274											
ZMYM3	9203	broad.mit.edu	37	chrX	70466243	70466243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctccaccttgcaggaGacgccccgattctgcatcag	8	10	8	15	2	4	1	2	0	2	1	5	3	4	1	4	1	2	2	4	1	0	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:70466243G>T	uc004dzh.2	-	14	2711	c.2532C>A	c.(2530-2532)gtC>gtA	p.V844V	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.V844V|ZMYM3_uc004dzj.2_Silent_p.V832V	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	844					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CCTTGCAGGAGACGCCCCGAT	0.597													T	70466243	G	T	70466243	2	4	161	1	0	0	0	0	0	0	0	1	17802	929	33	4		4	ZMYM3	23	70466243	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08		70466243	84804317	77	11275											
ERCC6L	54821	broad.mit.edu	37	chrX	71428507	71428507	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttaaatgcttcttccAggtctccattcttagttgct	9	17	6	9	0	3	0	0	0	3	0	5	0	4	0	2	1	2	4	2	1	4	7			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:71428507A>T	uc004eaq.1	-	1	207	c.110T>A	c.(109-111)cTg>cAg	p.L37Q	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_5'UTR	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	37					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTTCTTCCAGGTCTCCATT	0.363													T	71428507	A	T	71428507	3	4	161	1	0	0	0	0	1	0	0	0	5259	188	7	5	3646	5	ERCC6L	23	71428507	Missense_Mutation	SNP	A	TCGA-19-4068-01A-01D-1353-08	962264	71428507	83842053	78	11276											
SLC6A14	11254	broad.mit.edu	37	chrX	115590033	115590033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatacctggaacaacatcGtggggaaagatataaagaca	17	7	9	8	1	0	2	0	0	0	2	2	4	1	4	2	3	3	0	2	3	7	3			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:115590033G>A	uc004eqi.3	+	13	1972	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	614					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	GAACAACATCGTGGGGAAAGA	0.403													A	115590033	G	A	115590033	3	1	161	1	0	0	0	0	1	0	0	0	14771	1145	40	1	1895	1	SLC6A14	23	115590033	Missense_Mutation	SNP	G	TCGA-19-4068-01A-01D-1353-08	44161526	115590033	39680527	79	11277											
ZNF280C	55609	broad.mit.edu	37	chrX	129339341	129339341	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagccatacgatctaagccGgaagaatcagctaggaaatc	15	8	9	9	2	2	1	1	0	1	1	3	4	2	3	2	2	4	1	2	2	7	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:129339341G>A	uc004evm.3	-	16	2294	c.2091C>T	c.(2089-2091)tcC>tcT	p.S697S		NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	697					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S696Y(1)		endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GATCTAAGCCGGAAGAATCAG	0.323													A	129339341	G	A	129339341	2	1	161	1	0	0	0	0	0	0	0	1	17917	1103	39	1		1	ZNF280C	23	129339341	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	13749308	129339341	25931219	80	11278											
F9	2158	broad.mit.edu	37	chrX	138643870	138643870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgctgacaaggaatacacGaacatcttcctcaaatttgg	14	11	7	9	1	2	1	1	1	1	0	3	3	3	2	1	2	3	1	1	2	5	4			TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:138643870G>A	uc004fas.1	+	7	1055	c.1026G>A	c.(1024-1026)acG>acA	p.T342T	F9_uc004fat.1_Silent_p.T304T	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	342	Peptidase S1.		T -> K (in HEMB; mild).|T -> M (in HEMB; moderate).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	AGGAATACACGAACATCTTCC	0.433													A	138643870	G	A	138643870	2	1	161	1	0	0	0	0	0	0	0	1	5396	1045	37	1		1	F9	23	138643870	Silent	SNP	G	TCGA-19-4068-01A-01D-1353-08	9304529	138643870	16626690	81	11279											
F8	2157	broad.mit.edu	37	chrX	154194774	154194774	+	Frame_Shift_Del	DEL	T	T	-																															agcaatgtaatgtacccaagTtttaggatgcttcttggcaa																										TCGA-19-4068-01A-01D-1353-08	TCGA-19-4068-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0dcd7c56-8322-4598-9a89-89194700fd3c	624f5c85-5108-422b-be38-42b6c5976c02	g.chrX:154194774delT	uc004fmt.3	-	7	1369	c.1198delA	c.(1198-1200)actfs	p.T400fs		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	400	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGTACCCAAGTTTTAGGATGC	0.448													-	154194774	T	-	154194774	7	5	161	1	0	1	0	1	0	0	0	0	5392	1725	60	0	5961	0	F8	23	154194774	Frame_Shift_Del	DEL	T	TCGA-19-4068-01A-01D-1353-08	15550904	154194774	1075786	82	11280											
RERE	473	broad.mit.edu	37	chr1	8424241	8424242	+	Frame_Shift_Ins	INS	-	-	T																															atgggcgggagctcaccgtaINStttcttgaagtggatgcgac																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:8424241_8424242insT	uc001ape.3	-	15	2424_2425	c.1614_1615insA	c.(1612-1617)aaatacfs	p.K538fs	RERE_uc001apf.3_Frame_Shift_Ins_p.K538fs|RERE_uc010nzx.1_Frame_Shift_Ins_p.K270fs|RERE_uc001apd.3_5'UTR	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	538					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGCTCACCGTATTTCTTGAAGT	0.569													T	8424242	-	T	8424241	7	5	162	1	0	1	1	0	0	0	0	0	13319	449	16	0	3121	0	RERE	1	8424241	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08		8424241	240826380	1	11281											
MSH4	4438	broad.mit.edu	37	chr1	76288094	76288094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catttcttgtgttttgaaagGaataatcacactctctttgg	10	17	7	7	0	3	1	1	1	2	0	4	2	3	2	0	2	0	1	0	2	3	6			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:76288094G>A	uc001dhd.2	+	7	1105	c.990_splice	c.e7-1	p.R330_splice		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	330					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GTTTTGAAAGGAATAATCACA	0.308								Mismatch excision repair (MMR)					A	76288094	G	A	76288094	2	1	162	1	0	0	0	0	0	0	0	1	9948	1188	41	2		2	MSH4	1	76288094	Silent	SNP	G	TCGA-19-5947-01A-11D-1696-08	67863853	76288094	172962527	2	11282											
RPL5	6125	broad.mit.edu	37	chr1	93303161	93303161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagaaacagttctctcaaTacataaagaacagcgtaact	19	8	5	9	1	2	2	1	0	1	2	3	2	2	2	0	0	5	2	0	0	8	4			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:93303161T>C	uc001doz.3	+	5	754	c.676T>C	c.(676-678)Tac>Cac	p.Y226H	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_Missense_Mutation_p.Y176H|RPL5_uc001dpd.3_Missense_Mutation_p.Y27H|SNORA66_uc021opt.1_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	226					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTTCTCTCAATACATAAAGAA	0.368													C	93303161	T	C	93303161	3	2	162	1	0	0	0	0	1	0	0	0	13688	1406	49	3	698	3	RPL5	1	93303161	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08	17015067	93303161	155947460	3	11283											
SCYL3	57147	broad.mit.edu	37	chr1	169833511	169833511	+	Frame_Shift_Del	DEL	T	T	-																															actttgaaaaagcattcaccTtttttggggccaagcagata																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr1:169833511delT	uc001ggs.2	-	9	1153	c.955_splice	c.e9+1	p.D319_splice	SCYL3_uc010plw.1_Splice_Site|SCYL3_uc001ggt.2_Splice_Site_p.D319_splice	NM_181093	NP_851607	Q8IZE3	PACE1_HUMAN	Homo sapiens SCY1-like 3 (S. cerevisiae) (SCYL3), transcript variant 2, mRNA.	319					cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCATTCACCTTTTTTGGGGC	0.393													-	169833511	T	-	169833511	7	5	162	1	0	1	0	1	0	0	0	0	14042	1623	56	0	1298	0	SCYL3	1	169833511	Frame_Shift_Del	DEL	T	TCGA-19-5947-01A-11D-1696-08	76530350	169833511	79417110	4	11284											
GALNT14	79623	broad.mit.edu	37	chr2	31360949	31360949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgacgagtcaggcgccGcatggtcccctttgccgctt	5	8	12	16	5	1	0	1	0	0	0	2	2	2	0	5	2	2	2	5	2	0	2			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:31360949G>A	uc002rns.3	-	0	644	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W	GALNT14_uc010ymr.2_5'UTR|GALNT14_uc002rnr.3_Missense_Mutation_p.R2W|GALNT14_uc010ezo.2_Missense_Mutation_p.R2W|GALNT14_uc010ezp.1_Intron	NM_001253826	NP_001240755	Q96FL9	GLT14_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14) (GALNT14), transcript variant 2, mRNA.	2						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					GTCAGGCGCCGCATGGTCCCC	0.682													A	31360949	G	A	31360949	3	1	162	1	0	0	0	0	1	0	0	0	6266	1086	38	1	1714	1	GALNT14	2	31360949	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08		31360949	211838424	5	11285											
RCAN2	51776	broad.mit.edu	37	chr2	174104210	174104210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggttttcacttgaaaccaGgaactggcccacaggtaaat	12	11	9	9	0	1	1	1	1	0	0	1	2	1	2	2	4	2	2	2	4	4	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr2:174104210G>A	uc002uhz.3	+	15	1545	c.1345G>A	c.(1345-1347)Gga>Aga	p.G449R	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTTGAAACCAGGAACTGGCCC	0.398													A	174104210	G	A	174104210	3	1	162	1	0	0	0	0	1	0	0	0	13257	1001	35	2		2	RCAN2	2	174104210	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	142743261	174104210	69095163	6	11286											
LMCD1	29995	broad.mit.edu	37	chr3	8574487	8574487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgcaaggggacgtgttCgggcttcgagccacattcat	8	9	15	9	3	1	0	1	0	0	0	3	3	1	2	1	4	2	3	1	4	1	3			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:8574487C>T	uc003bqq.3	+	1	221	c.107C>T	c.(106-108)tCg>tTg	p.S36L	LMCD1_uc011atd.2_Intron|LMCD1_uc011ate.2_Silent_p.F9F	NM_014583	NP_055398	Q9NZU5	LMCD1_HUMAN	Homo sapiens LIM and cysteine-rich domains 1 (LMCD1), mRNA.	36	Cys-rich.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GGGACGTGTTCGGGCTTCGAG	0.537													T	8574487	C	T	8574487	3	4	162	1	0	0	0	0	1	0	0	0	8905	893	31	1	113	1	LMCD1	3	8574487	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		8574487	189447943	7	11287											
TLR9	54106	broad.mit.edu	37	chr3	52257538	52257538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgacgagggcactccatgCaggggttgggagcgtggtcg	7	7	19	8	3	0	1	0	1	0	0	2	3	1	2	1	5	2	3	1	5	0	1			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:52257538C>A	uc003ddb.3	-	4	1295	c.1085G>T	c.(1084-1086)tGc>tTc	p.C362F	TLR9_uc003dda.2_Missense_Mutation_p.C265F	NM_017442	NP_059138	Q9NR96	TLR9_HUMAN	Homo sapiens toll-like receptor 9 (TLR9), mRNA.	265					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GCACTCCATGCAGGGGTTGGG	0.617													A	52257538	C	A	52257538	3	1	162	1	0	0	0	0	1	0	0	0	16058	710	25	4	2308	4	TLR9	3	52257538	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	43683051	52257538	145764892	8	11288											
PIK3CA	5290	broad.mit.edu	37	chr3	178921548	178921548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctttgtgcaacctacGtgaatgtaaatattcgagac	14	13	7	7	2	1	2	0	1	1	1	2	3	1	2	1	0	3	2	1	0	7	6			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr3:178921548G>A	uc003fjk.3	+	4	1187	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	344					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.V344M(9)|p.V344G(5)|p.V344A(3)|p.Y343C(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGCAACCTACGTGAATGTAAA	0.308		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178921548	G	A	178921548	3	1	162	1	0	0	0	0	1	0	0	0	11990	1145	40	1	1044	1	PIK3CA	3	178921548	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	126664010	178921548	19100882	9	11289											
PIK3R1	5295	broad.mit.edu	37	chr5	67591152	67591152	+	Frame_Shift_Del	DEL	T	T	-																															gacgagagaccaatacttgaTgtaagtatttgaaatggaat																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:67591152delT	uc003jva.3	+	13	2325	c.1745_splice	c.e13+1	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAATACTTGATGTAAGTATTT	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591152	T	-	67591152	7	5	162	1	0	1	0	1	0	0	0	0	11995	1478	51	0	1921	0	PIK3R1	5	67591152	Frame_Shift_Del	DEL	T	TCGA-19-5947-01A-11D-1696-08		67591152	113324108	10	11290											
AFF4	27125	broad.mit.edu	37	chr5	132227876	132227877	+	Frame_Shift_Ins	INS	-	-	G																															ttaacctccttggagctactINSggaagtcttcccttcggtct																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:132227876_132227877insG	uc003kyd.3	-	12	3024_3025	c.2616_2617insC	c.(2614-2619)tccagtfs	p.S872fs	AFF4_uc011cxk.2_Frame_Shift_Ins_p.S550fs|AFF4_uc003kye.1_Frame_Shift_Ins_p.S872fs	NM_014423	NP_055238	Q9UHB7	AFF4_HUMAN	Homo sapiens AF4/FMR2 family, member 4 (AFF4), mRNA.	872	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGAGCTACTGGAAGTCTTCC	0.47													G	132227877	-	G	132227876	7	5	162	1	0	1	1	0	0	0	0	0	359	1580	55	0	910	0	AFF4	5	132227876	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08	64636724	132227876	48687384	11	11291											
PCDHAC2	56142	broad.mit.edu	37	chr5	140209539	140209539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagcagcgctcgcttcccGtttcgcgtggggctgtacac	5	9	13	14	5	0	0	0	0	0	0	3	0	1	0	1	2	3	7	1	2	2	3			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:140209539G>A	uc003lho.2	+	0	1890	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dab.2_Silent_p.P621P	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGCTTCCCGTTTCGCGTGG	0.657													A	140209539	G	A	140209539	2	1	162	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140209539	Silent	SNP	G	TCGA-19-5947-01A-11D-1696-08	7981663	140209539	40705721	12	11292											
SH3RF2	153769	broad.mit.edu	37	chr5	145439569	145439569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctcctccccctcagccGtggtggtggagatggggtcc	3	9	13	16	1	1	1	1	0	0	1	5	2	5	1	7	5	1	0	7	5	0	0			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr5:145439569G>A	uc003lnt.3	+	8	1934	c.1696G>A	c.(1696-1698)Gtg>Atg	p.V566M	SH3RF2_uc011dbl.1_Missense_Mutation_p.V566M|SH3RF2_uc011dbm.1_Missense_Mutation_p.V51M|SH3RF2_uc003lnu.3_Missense_Mutation_p.V57M|SH3RF2_uc011dbn.1_Missense_Mutation_p.V57M|SH3RF2_uc011dbo.2_Missense_Mutation_p.V23M	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	566							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCTCAGCCGTGGTGGTGGA	0.672													A	145439569	G	A	145439569	3	1	162	1	0	0	0	0	1	0	0	0	14353	1145	40	1	1726	1	SH3RF2	5	145439569	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	5230030	145439569	35475691	13	11293											
RIMS1	22999	broad.mit.edu	37	chr6	72957754	72957754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagaagatggaaaggcCttccatttctgttatttctc	10	15	7	9	0	3	2	1	0	3	2	6	3	4	3	2	2	0	1	2	2	3	4			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr6:72957754C>A	uc003pga.3	+	11	2242	c.2165C>A	c.(2164-2166)cCt>cAt	p.P722H	RIMS1_uc011dyb.2_Missense_Mutation_p.P348H|RIMS1_uc003pgc.3_Missense_Mutation_p.P348H|RIMS1_uc010kaq.3_Missense_Mutation_p.P196H|RIMS1_uc011dyc.2_Missense_Mutation_p.P196H|RIMS1_uc010kar.3_Missense_Mutation_p.P115H|RIMS1_uc011dyd.2_Missense_Mutation_p.P181H|RIMS1_uc003pge.3_5'Flank|RIMS1_uc003pgf.3_5'Flank|RIMS1_uc003pgi.3_5'Flank|RIMS1_uc003pgg.3_5'Flank|RIMS1_uc003pgh.3_5'Flank|RIMS1_uc003pgd.3_5'Flank|RIMS1_uc003pgb.4_Missense_Mutation_p.P348H|RIMS1_uc010kas.1_Missense_Mutation_p.P181H	NM_014989	NP_055804	Q86UR5	RIMS1_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 1 (RIMS1), transcript variant 1, mRNA.	722					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATGGAAAGGCCTTCCATTTCT	0.333													A	72957754	C	A	72957754	3	1	162	1	0	0	0	0	1	0	0	0	13458	681	24	4	2374	4	RIMS1	6	72957754	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		72957754	98157313	14	11294											
DENND2A	27147	broad.mit.edu	37	chr7	140301861	140301861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgacgttcactgctcCtttattcctctccttctctg	3	16	4	18	2	3	0	1	0	2	0	8	1	6	0	5	0	1	2	5	0	1	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr7:140301861C>T	uc010lnk.3	-	2	857	c.337G>A	c.(337-339)Gga>Aga	p.G113R	DENND2A_uc011kre.2_Non-coding_Transcript|DENND2A_uc010lnj.3_Missense_Mutation_p.G113R|DENND2A_uc003vvw.3_Missense_Mutation_p.G113R|DENND2A_uc003vvx.3_Missense_Mutation_p.G113R	NM_015689	NP_056504	Q9ULE3	DEN2A_HUMAN	Homo sapiens DENN/MADD domain containing 2A (DENND2A), mRNA.	113										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					TTCACTGCTCCTTTATTCCTC	0.587													T	140301861	C	T	140301861	3	4	162	1	0	0	0	0	1	0	0	0	4468	690	24	2	2764	2	DENND2A	7	140301861	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		140301861	18836802	15	11295											
RAG2	5897	broad.mit.edu	37	chr11	36615451	36615451	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctccatggatgatgtattGatgcttttcagactccaagc	9	13	8	11	0	1	3	1	2	0	1	3	4	3	4	3	1	2	2	3	1	2	4	rs149769148		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:36615451G>C	uc021qge.1	-	0	268	c.268C>G	c.(268-270)Caa>Gaa	p.Q90E	RAG2_uc021qgc.1_Missense_Mutation_p.Q90E|RAG2_uc021qgd.1_Missense_Mutation_p.Q90E|RAG2_uc001mwv.4_Missense_Mutation_p.Q90E|C11orf74_uc001mwx.1_5'Flank|C11orf74_uc001mwy.1_5'Flank|C11orf74_uc001mwz.1_5'Flank|C11orf74_uc010rfe.1_5'Flank|C11orf74_uc010rfd.2_5'Flank	NM_001243786	NP_001230715	P55895	RAG2_HUMAN	Homo sapiens recombination activating gene 2 (RAG2), transcript variant 4, mRNA.	90					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				ATGATGTATTGATGCTTTTCA	0.413									Familial Hemophagocytic Lymphohistiocytosis				C	36615451	G	C	36615451	3	2	162	1	0	0	0	0	1	0	0	0	13093	1299	45	4	1319	4	RAG2	11	36615451	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08		36615451	98391065	16	11296											
KDELC2	143888	broad.mit.edu	37	chr11	108361783	108361783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgacagtttcatacatcCtatatctcatcaaaaatgtt	14	14	3	10	1	3	0	3	0	1	0	6	1	4	0	1	0	1	2	1	0	5	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:108361783C>T	uc001pkj.2	-	1	380	c.314G>A	c.(313-315)aGg>aAg	p.R105K	KDELC2_uc001pki.2_Missense_Mutation_p.R49K	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	105						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TTCATACATCCTATATCTCAT	0.388													T	108361783	C	T	108361783	3	4	162	1	0	0	0	0	1	0	0	0	8176	681	24	2	1237	2	KDELC2	11	108361783	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	71746332	108361783	26644733	17	11297											
ESAM	90952	broad.mit.edu	37	chr11	124623728	124623728	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgtgggggtcaatgcAccaggcctgggagggccatg	6	6	19	10	1	1	0	1	0	0	0	1	1	1	1	3	6	1	1	3	6	1	0			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr11:124623728A>C	uc001qav.4	-	6	1160	c.987T>G	c.(985-987)ggT>ggG	p.G329G	VSIG2_uc001qas.3_5'Flank|VSIG2_uc001qat.3_5'Flank|ESAM_uc010sao.2_Intron|ESAM_uc001qau.4_Silent_p.G256G|ESAM_uc001qaw.4_Non-coding_Transcript|ESAM_uc001qax.4_Non-coding_Transcript	NM_138961	NP_620411	Q96AP7	ESAM_HUMAN	Homo sapiens endothelial cell adhesion molecule (ESAM), mRNA.	329					blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		GGGTCAATGCACCAGGCCTGG	0.647													C	124623728	A	C	124623728	2	2	162	1	0	0	0	0	0	0	0	1	5288	146	6	5		5	ESAM	11	124623728	Silent	SNP	A	TCGA-19-5947-01A-11D-1696-08	16261945	124623728	10382788	18	11298											
ANKRD33	341405	broad.mit.edu	37	chr12	52284586	52284586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccttcactcctagaaCggctgcaggctaccttgagc	7	10	9	15	1	1	2	1	1	0	1	2	2	2	2	4	2	5	3	4	2	3	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr12:52284586C>T	uc001rzd.3	+	4	1034	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.R161W|ANKRD33_uc001rze.3_Missense_Mutation_p.R182W|ANKRD33_uc001rzg.4_Missense_Mutation_p.R88W|ANKRD33_uc001rzi.4_Missense_Mutation_p.R161W	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	161										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		ACTCCTAGAACGGCTGCAGGC	0.662													T	52284586	C	T	52284586	3	4	162	1	0	0	0	0	1	0	0	0	661	527	19	1	904	1	ANKRD33	12	52284586	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		52284586	81567309	19	11299											
IGDCC3	9543	broad.mit.edu	37	chr15	65621380	65621380	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcagggagccgtggccTctgtggtcttcgcctccgtc	2	9	15	15	5	2	0	0	0	2	0	5	1	3	1	4	4	1	1	4	4	0	1			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr15:65621380T>A	uc002aos.2	-	13	2564	c.2312A>T	c.(2311-2313)gAg>gTg	p.E771V	IGDCC3_uc002aor.1_Missense_Mutation_p.E57V	NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	771										breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGCCGTGGCCTCTGTGGTCTT	0.716													A	65621380	T	A	65621380	3	1	162	1	0	0	0	0	1	0	0	0	7626	1551	54	5	136	5	IGDCC3	15	65621380	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08		65621380	36910012	20	11300											
RBBP6	5930	broad.mit.edu	37	chr16	24581255	24581256	+	Frame_Shift_Ins	INS	-	-	A																															atcttcctctcagaaggatgINSaaaaaatcactggaaccccc																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:24581255_24581256insA	uc002dmh.3	+	16	4284_4285	c.3244_3245insA	c.(3244-3246)gaafs	p.E1082fs	RBBP6_uc010vcb.1_Frame_Shift_Ins_p.E949fs|RBBP6_uc002dmi.3_Frame_Shift_Ins_p.E1048fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Ins_p.E915fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1082	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TCAGAAGGATGAAAAAATCACT	0.406													A	24581256	-	A	24581255	7	5	162	1	0	1	1	0	0	0	0	0	13191	1291	45	0	3364	0	RBBP6	16	24581255	Frame_Shift_Ins	INS	-	TCGA-19-5947-01A-11D-1696-08		24581255	65773498	21	11301											
CES3	23491	broad.mit.edu	37	chr16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggttacagtccagtacCgccttggggtccttggcttc	4	13	12	12	2	0	0	0	0	0	0	4	0	2	0	4	4	2	3	4	4	2	5	rs148620443	byFrequency	TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr16:66997813C>T	uc002eqt.3	+	3	614	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_uc010cdz.3_Missense_Mutation_p.R179C	NM_024922	NP_079198	Q6UWW8	EST3_HUMAN	Homo sapiens carboxylesterase 3 (CES3), transcript variant 1, mRNA.	179						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													T	66997813	C	T	66997813	3	4	162	1	0	0	0	0	1	0	0	0	3301	652	23	1	549	1	CES3	16	66997813	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08	42416558	66997813	23356940	22	11302											
SSTR2	6752	broad.mit.edu	37	chr17	71166297	71166297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcaacgtttcttccgTctccatggccatcagcccca	8	12	5	16	2	4	0	2	0	2	0	6	0	5	0	5	1	2	1	5	1	2	4			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr17:71166297T>C	uc002jje.3	+	1	1199	c.839T>C	c.(838-840)gTc>gCc	p.V280A	SSTR2_uc021ucm.1_Missense_Mutation_p.V280A	NM_001050	NP_001041	P30874	SSR2_HUMAN	Homo sapiens somatostatin receptor 2 (SSTR2), mRNA.	280					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity	p.V280I(1)		endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			GTTTCTTCCGTCTCCATGGCC	0.512													C	71166297	T	C	71166297	3	2	162	1	0	0	0	0	1	0	0	0	15294	1667	58	3	841	3	SSTR2	17	71166297	Missense_Mutation	SNP	T	TCGA-19-5947-01A-11D-1696-08		71166297	10028913	23	11303											
CDH19	28513	broad.mit.edu	37	chr18	64178924	64178925	+	Splice_Site	INS	-	-	A																															actgatagtctgaattacctINSaaaaaaaaagggggatagat																										TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:64178924_64178925insA	uc002lkc.1	-	10	1597	c.1459_splice	c.e10-1	p.V487_splice	CDH19_uc010dql.1_Splice_Site|CDH19_uc010xey.1_Intron	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	487	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				CTGAATTACCTAAAAAAAAAGG	0.317													A	64178925	-	A	64178924	8	5	162	1	0	1	1	0	0	0	1	0	3134	1536	53	0	873	0	CDH19	18	64178924	Splice_Site	INS	-	TCGA-19-5947-01A-11D-1696-08		64178924	13898324	24	11304											
ZNF516	9658	broad.mit.edu	37	chr18	74091275	74091275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgggcgatgacggtgggcGtaggggtggcgctcctgctg	3	7	20	11	5	0	1	0	1	0	0	1	2	1	1	2	6	1	3	2	6	1	1			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr18:74091275G>A	uc021ulp.1	-	3	3113	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	932					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T932M(2)		central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GACGGTGGGCGTAGGGGTGGC	0.726													A	74091275	G	A	74091275	3	1	162	1	0	0	0	0	1	0	0	0	18061	1145	40	1	713	1	ZNF516	18	74091275	Missense_Mutation	SNP	G	TCGA-19-5947-01A-11D-1696-08	9912351	74091275	3985973	25	11305											
ZNF135	7694	broad.mit.edu	37	chr19	58578313	58578313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcacgcctgtgaagaCgcctgttctggagcagtggc	6	9	14	12	2	2	2	1	1	1	1	2	3	2	3	3	3	1	2	3	3	1	2			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr19:58578313C>T	uc002qrg.3	+	3	536	c.533C>T	c.(532-534)aCg>aTg	p.T178M	ZNF135_uc002qre.3_Missense_Mutation_p.T154M|ZNF135_uc002qrf.3_Missense_Mutation_p.T112M|ZNF135_uc010yhq.2_Missense_Mutation_p.T166M|ZNF135_uc010yhr.2_5'UTR|ZNF135_uc002qrd.2_Missense_Mutation_p.T166M|ZNF135_uc021vcu.1_Intron	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	166					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T178K(1)|p.T154K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CCTGTGAAGACGCCTGTTCTG	0.557													T	58578313	C	T	58578313	3	4	162	1	0	0	0	0	1	0	0	0	17826	536	19	1	664	1	ZNF135	19	58578313	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		58578313	550670	26	11306											
SEMG2	6407	broad.mit.edu	37	chr20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcatacccgtcttcaCgtacagaagaaagacaactt	17	9	5	10	2	3	3	2	0	1	3	3	3	3	3	1	0	3	1	1	0	7	5	rs140069155		TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chr20:43851147C>T	uc010ggz.3	+	1	931	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C	SEMG2_uc002xnk.3_Missense_Mutation_p.R292C|SEMG2_uc002xnl.3_Missense_Mutation_p.R292C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(2)|p.S291P(1)|p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													T	43851147	C	T	43851147	3	4	162	1	0	0	0	0	1	0	0	0	14138	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-19-5947-01A-11D-1696-08		43851147	19174373	27	11307											
CXorf66	347487	broad.mit.edu	37	chrX	139038184	139038184	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcacatgatcaccgtaTgcattgttcctggaatctaa	11	14	6	10	1	4	1	3	1	1	0	5	2	5	2	2	1	1	3	2	1	3	5			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:139038184T>C	uc004fbb.3	-	2	979	c.957A>G	c.(955-957)gcA>gcG	p.A319A		NM_001013403	NP_001013421	Q5JRM2	CX066_HUMAN	Homo sapiens chromosome X open reading frame 66 (CXorf66), mRNA.	319						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						GATCACCGTATGCATTGTTCC	0.383													C	139038184	T	C	139038184	2	2	162	1	0	0	0	0	0	0	0	1	4151	1451	51	3		3	CXorf66	23	139038184	Silent	SNP	T	TCGA-19-5947-01A-11D-1696-08		139038184	16232376	28	11308											
UBE2NL	389898	broad.mit.edu	37	chrX	142967295	142967295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaccagatgaaagcaaCgcccgttattttcatgtggt	12	10	10	9	2	1	3	1	1	0	2	1	3	1	3	2	1	3	3	2	1	4	3			TCGA-19-5947-01A-11D-1696-08	TCGA-19-5947-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7dd90-ead0-40fe-94c5-bc740cb509ab	fa48fd89-0ab3-4670-9276-3257e1451d5d	g.chrX:142967295C>T	uc004fca.3	+	0	123	c.93C>T	c.(91-93)aaC>aaT	p.N31N		NM_001012989	NP_001013007	Q5JXB2	UE2NL_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2N-like (UBE2NL), mRNA.	31							acid-amino acid ligase activity			breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAAAGCAACGCCCGTTATT	0.493													T	142967295	C	T	142967295	2	4	162	1	0	0	0	0	0	0	0	1	16969	535	19	1		1	UBE2NL	23	142967295	Silent	SNP	C	TCGA-19-5947-01A-11D-1696-08	3929111	142967295	12303265	29	11309											
EPHA8	2046	broad.mit.edu	37	chr1	22903296	22903296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaagatgtactgcagcgCggagggcgagtggctcgtgc	8	6	16	11	4	0	1	0	0	0	1	1	3	0	2	1	3	4	3	1	3	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:22903296C>T	uc001bfx.1	+	2	871	c.746C>T	c.(745-747)gCg>gTg	p.A249V	EPHA8_uc001bfw.3_Missense_Mutation_p.A249V	NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	249	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TACTGCAGCGCGGAGGGCGAG	0.687													T	22903296	C	T	22903296	3	4	163	1	0	0	0	0	1	0	0	0	5214	768	27	1	756	1	EPHA8	1	22903296	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		22903296	226347325	1	11310											
TSSK3	81629	broad.mit.edu	37	chr1	32828323	32828323	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggactttctgctctcCaatgggtaccagctgggcaa	9	10	12	10	0	2	0	0	0	2	0	3	2	2	2	2	4	3	4	2	4	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:32828323C>A	uc001bvf.3	+	0	462	c.21C>A	c.(19-21)tcC>tcA	p.S7S	LOC100128071_uc021oku.1_5'Flank	NM_052841	NP_443073	Q96PN8	TSSK3_HUMAN	Homo sapiens testis-specific serine kinase 3 (TSSK3), mRNA.	7					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|large_intestine(6)|lung(5)|skin(2)|stomach(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.17)|Breast(348;0.212)				TTCTGCTCTCCAATGGGTACC	0.502													A	32828323	C	A	32828323	2	1	163	1	0	0	0	0	0	0	0	1	16771	581	21	4		4	TSSK3	1	32828323	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	9925027	32828323	216422298	2	11311											
GRIK3	2899	broad.mit.edu	37	chr1	37356541	37356541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttttggtcgcctcgaagCtgtcatggaagtgaatcctc	7	13	10	11	2	1	1	1	1	0	0	5	3	2	2	3	2	1	1	3	2	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr1:37356541C>G	uc001caz.2	-	1	407	c.272G>C	c.(271-273)aGc>aCc	p.S91T	GRIK3_uc001cba.1_Missense_Mutation_p.S91T	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	91					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGCCTCGAAGCTGTCATGGAA	0.527													G	37356541	C	G	37356541	3	3	163	1	0	0	0	0	1	0	0	0	6830	797	28	4	2547	4	GRIK3	1	37356541	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	4528218	37356541	211894080	3	11312											
SDC1	6382	broad.mit.edu	37	chr2	20403674	20403674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctgtgtggggagtgTgaaggtcagcttggctgggt	5	12	17	7	0	2	1	1	1	1	0	3	2	3	2	1	5	1	2	1	5	1	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr2:20403674T>C	uc002rdo.1	-	2	826	c.527A>G	c.(526-528)cAc>cGc	p.H176R	SDC1_uc002rdp.1_Missense_Mutation_p.H176R|SDC1_uc010exv.3_Intron	NM_002997	NP_002988	P18827	SDC1_HUMAN	Homo sapiens syndecan 1 (SDC1), transcript variant 2, mRNA.	176					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		GTGGGGAGTGTGAAGGTCAGC	0.662													C	20403674	T	C	20403674	3	2	163	1	0	0	0	0	1	0	0	0	14044	1696	59	3	417	3	SDC1	2	20403674	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08		20403674	222795699	4	11313											
KCNH8	131096	broad.mit.edu	37	chr3	19574895	19574895	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatccacataggtaacaacAttgactcaggaagtttctca	14	11	6	10	0	2	1	2	1	1	0	4	2	3	2	1	2	2	2	1	2	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:19574895A>G	uc003cbk.1	+	15	2823	c.2628A>G	c.(2626-2628)acA>acG	p.T876T	KCNH8_uc010hex.1_Silent_p.T337T	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	876						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGGTAACAACATTGACTCAGG	0.413													G	19574895	A	G	19574895	2	3	163	1	0	0	0	0	0	0	0	1	8096	204	8	3		3	KCNH8	3	19574895	Silent	SNP	A	TCGA-19-5950-01A-11D-1696-08		19574895	178447535	5	11314											
ERC2	26059	broad.mit.edu	37	chr3	56468977	56468977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggagaccttggcaaaCgaggggatctggaagggcta	13	5	16	7	2	1	1	0	0	1	1	1	6	1	3	1	6	2	2	1	6	4	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:56468977C>T	uc021wzo.1	-	0	199	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ERC2_uc003dhr.1_Missense_Mutation_p.R20H	NM_015576	NP_056391	O15083	ERC2_HUMAN	Homo sapiens ELKS/RAB6-interacting/CAST family member 2 (ERC2), mRNA.	20						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding	p.R20H(3)		breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCTTGGCAAACGAGGGGATCT	0.468													T	56468977	C	T	56468977	3	4	163	1	0	0	0	0	1	0	0	0	5252	536	19	1	2868	1	ERC2	3	56468977	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	36894082	56468977	141553453	6	11315											
SLC33A1	9197	broad.mit.edu	37	chr3	155547581	155547581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtagaaggccagtttcCtcccagattggacacggtat	10	11	10	10	1	0	2	0	0	0	2	2	3	2	3	3	3	1	3	3	3	4	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr3:155547581C>T	uc003fan.4	-	4	1840	c.1378G>A	c.(1378-1380)Gga>Aga	p.G460R	SLC33A1_uc003fao.2_Missense_Mutation_p.G460R|SLC33A1_uc003fap.1_Non-coding_Transcript	NM_001190992	NP_004724	O00400	ACATN_HUMAN	Homo sapiens solute carrier family 33 (acetyl-CoA transporter), member 1 (SLC33A1), transcript variant 2, mRNA.	460					cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			GGCCAGTTTCCTCCCAGATTG	0.428													T	155547581	C	T	155547581	3	4	163	1	0	0	0	0	1	0	0	0	14660	690	24	2	279	2	SLC33A1	3	155547581	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	99078604	155547581	42474849	7	11316											
ABCG2	9429	broad.mit.edu	37	chr4	89061129	89061129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacactgggataaaaacttCgacattactggaagacatct	15	10	8	8	1	1	2	0	1	1	1	2	5	1	4	0	2	2	0	0	2	5	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:89061129C>T	uc003hrg.3	-	1	512	c.19G>A	c.(19-21)Gaa>Aaa	p.E7K	ABCG2_uc003hrh.3_Missense_Mutation_p.E7K|ABCG2_uc003hri.1_Missense_Mutation_p.E7K|ABCG2_uc003hrj.1_Missense_Mutation_p.E7K|ABCG2_uc003hrk.1_Missense_Mutation_p.E7K	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	7					cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity	p.E7D(1)		breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	ATAAAAACTTCGACATTACTG	0.413													T	89061129	C	T	89061129	3	4	163	1	0	0	0	0	1	0	0	0	69	893	31	1	2008	1	ABCG2	4	89061129	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		89061129	102093147	8	11317											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005603	118005603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctctgaagccagagagtaAttaagttccatgttacgtag	13	11	9	8	1	1	2	0	1	1	1	2	3	2	2	3	0	2	4	3	0	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr4:118005603A>G	uc003ibv.4	-	0	1134	c.947T>C	c.(946-948)aTt>aCt	p.I316T		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	316	TLC.				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						CCAGAGAGTAATTAAGTTCCA	0.408													G	118005603	A	G	118005603	3	3	163	1	0	0	0	0	1	0	0	0	16553	101	4	3	166	3	TRAM1L1	4	118005603	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	28944474	118005603	73148673	9	11318											
DNAH5	1767	broad.mit.edu	37	chr5	13901576	13901576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttcgagccagaggaggatCgtatttctgctttgtataca	9	14	11	7	2	1	1	0	0	1	1	3	4	1	3	1	2	3	4	1	2	3	6	rs141072655		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:13901576C>T	uc003jfd.2	-	13	1879	c.1837G>A	c.(1837-1839)Gat>Aat	p.D613N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	613	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGGAGGATCGTATTTCTGC	0.448									Kartagener syndrome				T	13901576	C	T	13901576	3	4	163	1	0	0	0	0	1	0	0	0	4643	884	31	1	12301	1	DNAH5	5	13901576	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		13901576	167013684	10	11319											
PRDM9	56979	broad.mit.edu	37	chr5	23527545	23527545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcagggagtgtgggcGgggctttagagataagtcaa	9	10	17	5	1	2	1	1	0	1	1	2	3	2	2	0	4	1	2	0	4	3	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:23527545G>A	uc003jgo.3	+	10	2530	c.2348G>A	c.(2347-2349)cGg>cAg	p.R783Q		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	783					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAGTGTGGGCGGGGCTTTAGA	0.577										HNSCC(3;0.000094)			A	23527545	G	A	23527545	3	1	163	1	0	0	0	0	1	0	0	0	12549	1116	39	1	2386	1	PRDM9	5	23527545	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	9625969	23527545	157387715	11	11320											
EMB	133418	broad.mit.edu	37	chr5	49698154	49698154	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaaattctttcccctcatCtgtgtaacaaaagaagaatt	14	13	4	10	0	4	2	2	0	2	2	5	2	5	2	2	0	1	1	2	0	6	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:49698154C>T	uc003jom.3	-	7	1127	c.878_splice	c.e7-1	p.D293_splice	EMB_uc010ivq.3_Splice_Site_p.D87_splice|EMB_uc003jol.3_Splice_Site_p.D224_splice|EMB_uc011cpy.2_Splice_Site_p.D243_splice	NM_198449	NP_940851	Q6PCB8	EMB_HUMAN	Homo sapiens embigin (EMB), mRNA.	293						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				TTCCCCTCATCTGTGTAACAA	0.318													T	49698154	C	T	49698154	5	4	163	1	0	0	0	0	0	0	1	0	5126	927	32	2	118	2	EMB	5	49698154	Splice_Site	SNP	C	TCGA-19-5950-01A-11D-1696-08	26170609	49698154	131217106	12	11321											
OCLN	4950	broad.mit.edu	37	chr5	68805174	68805174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctgtgtggcctccaCgcttgcctgggacagaggct	4	11	13	13	1	0	1	0	0	0	1	1	2	1	2	4	3	2	2	4	3	0	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr5:68805174C>T	uc003jwu.3	+	2	693	c.257C>T	c.(256-258)aCg>aTg	p.T86M	OCLN_uc003jwv.4_Missense_Mutation_p.T86M|OCLN_uc021xzq.1_Intron|OCLN_uc021xzr.1_Non-coding_Transcript|OCLN_uc021xzs.1_5'UTR|OCLN_uc021xzt.1_Intron	NM_002538	NP_001192184	Q16625	OCLN_HUMAN	Homo sapiens occludin (OCLN), transcript variant 1, mRNA.	86	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GTGGCCTCCACGCTTGCCTGG	0.507													T	68805174	C	T	68805174	3	4	163	1	0	0	0	0	1	0	0	0	10896	536	19	1	263	1	OCLN	5	68805174	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	19107020	68805174	112110086	13	11322											
PKHD1	5314	broad.mit.edu	37	chr6	51491843	51491843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcccttgtgattctcggcGtttggatgagatgtggatat	6	14	15	6	2	1	2	0	2	1	1	2	5	1	4	1	4	0	1	1	4	1	4	rs151198392		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:51491843G>A	uc003pah.1	-	65	12013	c.11737C>T	c.(11737-11739)Cgc>Tgc	p.R3913C		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3913			R -> H (in dbSNP:rs2661487).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GATTCTCGGCGTTTGGATGAG	0.433													A	51491843	G	A	51491843	3	1	163	1	0	0	0	0	1	0	0	0	12048	1145	40	1	495	1	PKHD1	6	51491843	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08		51491843	119623224	14	11323											
COL12A1	1303	broad.mit.edu	37	chr6	75898089	75898089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactcaccttcttctccaCtaaccaattcaccaagttgt	10	14	2	15	0	5	0	2	0	3	0	6	0	5	0	4	0	2	1	4	0	4	6			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:75898089C>A	uc021zbv.1	-	6	1021	c.986G>T	c.(985-987)aGt>aTt	p.S329I	COL12A1_uc021zbw.1_Intron|COL12A1_uc003phs.3_Missense_Mutation_p.S329I|COL12A1_uc003pht.3_Intron|COL12A1_uc003phu.1_5'UTR	NM_004370	NP_004361	Q99715	COCA1_HUMAN	Homo sapiens collagen, type XII, alpha 1 (COL12A1), transcript variant long, mRNA.	329					cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCTTCTCCACTAACCAATTC	0.373													A	75898089	C	A	75898089	3	1	163	1	0	0	0	0	1	0	0	0	3700	565	20	4	8441	4	COL12A1	6	75898089	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	24406246	75898089	95216978	15	11324											
DOPEY1	23033	broad.mit.edu	37	chr6	83841949	83841949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggacacctcagcatcacCagaagagtgtggaactattt	13	9	10	9	0	2	2	2	0	0	2	2	4	2	4	2	2	2	1	2	2	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:83841949C>T	uc011dyy.2	+	17	2904	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*	DOPEY1_uc003pjs.1_Nonsense_Mutation_p.Q891*|DOPEY1_uc010kbl.1_Nonsense_Mutation_p.Q882*	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	891					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCAGCATCACCAGAAGAGTGT	0.373													T	83841949	C	T	83841949	4	4	163	1	0	0	0	0	0	1	0	0	4746	595	21	2	2733	2	DOPEY1	6	83841949	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	7943860	83841949	87273118	16	11325											
PREP	5550	broad.mit.edu	37	chr6	105771589	105771589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttttacggtcacctctCggaaaactcttggctccagc	7	13	7	14	2	3	0	1	0	2	0	6	1	5	1	3	3	3	1	3	3	3	4	rs141737006		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr6:105771589C>T	uc003prc.3	-	9	1501	c.1268G>A	c.(1267-1269)cGa>cAa	p.R423Q		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	423					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	GGTCACCTCTCGGAAAACTCT	0.408													T	105771589	C	T	105771589	3	4	163	1	0	0	0	0	1	0	0	0	12560	884	31	1	888	1	PREP	6	105771589	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	21929640	105771589	65343478	17	11326											
DNAH11	8701	broad.mit.edu	37	chr7	21939697	21939697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaagattatggacaccCgccaagggaaggtgcatacc	15	5	12	9	1	0	1	0	0	0	1	0	4	0	4	3	4	2	1	3	4	6	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:21939697C>T	uc003svc.3	+	81	13314	c.13283C>T	c.(13282-13284)cCg>cTg	p.P4428L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	4428					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATGGACACCCGCCAAGGGAA	0.488									Kartagener syndrome				T	21939697	C	T	21939697	3	4	163	1	0	0	0	0	1	0	0	0	4638	652	23	1	13606	1	DNAH11	7	21939697	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		21939697	137198966	18	11327											
PPP1R9A	55607	broad.mit.edu	37	chr7	94879506	94879506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaagagactcaaagccagTatcaggccttggaaaagaaa	18	6	9	8	0	3	2	3	0	0	2	3	4	3	3	2	2	1	1	2	2	6	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:94879506T>C	uc003unp.3	+	8	2551	c.2269T>C	c.(2269-2271)Tat>Cat	p.Y757H	PPP1R9A_uc010lfj.3_Missense_Mutation_p.Y779H|PPP1R9A_uc011kif.2_Missense_Mutation_p.Y757H|PPP1R9A_uc003unq.3_Missense_Mutation_p.Y757H|PPP1R9A_uc011kig.2_Missense_Mutation_p.Y757H	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	757	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAAAGCCAGTATCAGGCCTT	0.373										HNSCC(28;0.073)			C	94879506	T	C	94879506	3	2	163	1	0	0	0	0	1	0	0	0	12460	1638	57	3	2369	3	PPP1R9A	7	94879506	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	72939809	94879506	64259157	19	11328											
IRF5	3663	broad.mit.edu	37	chr7	128585975	128585975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtggaaggccaacctgcGctgtgcccttaacaagagcc	11	6	11	13	1	0	1	0	0	0	1	0	2	0	2	4	2	5	1	4	2	5	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:128585975G>A	uc003voh.3	+	2	393	c.272G>A	c.(271-273)cGc>cAc	p.R91H	IRF5_uc010llr.1_Missense_Mutation_p.R91H|IRF5_uc011kot.1_Missense_Mutation_p.R91H|IRF5_uc011kou.1_Missense_Mutation_p.R91H|IRF5_uc010lls.1_Missense_Mutation_p.R91H|IRF5_uc003vog.3_Missense_Mutation_p.R91H|IRF5_uc010llt.3_Missense_Mutation_p.R91H|IRF5_uc003voi.3_Missense_Mutation_p.R91H|IRF5_uc010llu.1_Missense_Mutation_p.R91H|IRF5_uc003vok.2_Missense_Mutation_p.R91H|IRF5_uc003voj.4_Missense_Mutation_p.R91H|IRF5_uc010llv.1_Missense_Mutation_p.R91H|IRF5_uc010llw.1_Missense_Mutation_p.R91H	NM_001098630	NP_116032	Q13568	IRF5_HUMAN	Homo sapiens interferon regulatory factor 5 (IRF5), transcript variant 6, mRNA.	91					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GCCAACCTGCGCTGTGCCCTT	0.612													A	128585975	G	A	128585975	3	1	163	1	0	0	0	0	1	0	0	0	7891	1087	38	1	278	1	IRF5	7	128585975	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	33706469	128585975	30552688	20	11329											
OR2A12	346525	broad.mit.edu	37	chr7	143792799	143792799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccaggtggtcctatttgCgggttctgcgttcatcttag	6	14	11	10	2	3	0	1	0	2	0	4	0	4	0	2	3	3	2	2	3	3	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr7:143792799C>T	uc011kty.2	+	0	599	c.599C>T	c.(598-600)gCg>gTg	p.A200V		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A200V(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					GTCCTATTTGCGGGTTCTGCG	0.532													T	143792799	C	T	143792799	3	4	163	1	0	0	0	0	1	0	0	0	11051	768	27	1	601	1	OR2A12	7	143792799	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	15206824	143792799	15345864	21	11330											
CSMD1	64478	broad.mit.edu	37	chr8	3057257	3057257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatacacgaagtggaagcCgcgggcagaggcaccgctct	10	6	14	11	4	1	2	0	1	1	1	1	4	1	3	2	3	2	3	2	3	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:3057257C>T	uc022aqr.1	-	32	5563	c.5173G>A	c.(5173-5175)Ggc>Agc	p.G1725S	CSMD1_uc011kwj.2_Missense_Mutation_p.G1118S|CSMD1_uc003wqe.3_Missense_Mutation_p.G882S	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1726	CUB 10.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAGTGGAAGCCGCGGGCAGAG	0.512													T	3057257	C	T	3057257	3	4	163	1	0	0	0	0	1	0	0	0	3977	652	23	1	5673	1	CSMD1	8	3057257	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		3057257	143306765	22	11331											
MSR1	4481	broad.mit.edu	37	chr8	15978016	15978016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccaacgcgcacttcccagCgatcgtcacaaattgtaccc	10	8	7	16	4	1	0	1	0	0	0	4	1	3	0	3	0	3	2	3	0	3	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:15978016C>T	uc010lsu.3	-	8	1251	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H	MSR1_uc003wwz.3_Missense_Mutation_p.R378H|MSR1_uc003wxa.3_Intron	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	378	SRCR.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CACTTCCCAGCGATCGTCACA	0.562													T	15978016	C	T	15978016	3	4	163	1	0	0	0	0	1	0	0	0	9962	768	27	1	230	1	MSR1	8	15978016	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	12920759	15978016	130386006	23	11332											
CDCA2	157313	broad.mit.edu	37	chr8	25341581	25341581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaagtgtttgatgaatCtttgccagcaaatactccat	11	12	8	10	1	1	2	0	2	1	0	2	3	2	3	3	1	3	2	3	1	4	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:25341581C>A	uc003xep.1	+	9	1697	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.S407Y|CDCA2_uc003xeq.1_Missense_Mutation_p.S392Y|CDCA2_uc003xer.1_Missense_Mutation_p.S70Y	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	407					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTGATGAATCTTTGCCAGCA	0.428													A	25341581	C	A	25341581	3	1	163	1	0	0	0	0	1	0	0	0	3116	913	32	4	1254	4	CDCA2	8	25341581	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	9363565	25341581	121022441	24	11333											
PKHD1L1	93035	broad.mit.edu	37	chr8	110424605	110424605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttaaaccaaacagaCgaccatatggagatatttta	17	10	7	7	1	0	3	0	0	0	3	0	5	0	3	2	1	2	1	2	1	6	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:110424605C>T	uc003yne.3	+	19	2301	c.2197C>T	c.(2197-2199)Cga>Tga	p.R733*		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	733					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCAAACAGACGACCATATGG	0.368										HNSCC(38;0.096)			T	110424605	C	T	110424605	4	4	163	1	0	0	0	0	0	1	0	0	12049	528	19	1	2275	1	PKHD1L1	8	110424605	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	85083024	110424605	35939417	25	11334											
DGAT1	8694	broad.mit.edu	37	chr8	145541816	145541818	+	In_Frame_Del	DEL	CTT	CTT	-																															ggggcagcagcactgctggcCttcttccctgcagaggctac																										TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:145541816_145541818delCTT	uc003zbv.3	-	7	959_961	c.691_693delAAG	c.(691-693)aagdel	p.K231del		NM_012079	NP_036211	O75907	DGAT1_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 1 (DGAT1), mRNA.	231					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CACTGCTGGCCTTCTTCCCTGCA	0.709													-	145541818	CTT	-	145541816	7	5	163	1	0	1	0	1	0	0	0	0	4496	680	24	0	813	0	DGAT1	8	145541816	In_Frame_Del	DEL	CTT	TCGA-19-5950-01A-11D-1696-08	35117211	145541816	822206	26	11335											
ZNF250	58500	broad.mit.edu	37	chr8	146108024	146108024	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactgcctggtgcggagTgagtggcatgctttggctta	6	11	16	8	1	0	1	0	1	0	0	0	2	0	2	1	5	3	4	1	5	1	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr8:146108024T>C	uc003zeq.4	-	5	676	c.559A>G	c.(559-561)Act>Gct	p.T187A	COMMD5_uc010mgf.2_Intron|ZNF250_uc003zer.4_Missense_Mutation_p.T182A|ZNF250_uc010mgg.3_Missense_Mutation_p.T182A	NM_021061	NP_066405	P15622	ZN250_HUMAN	Homo sapiens zinc finger protein 250 (ZNF250), transcript variant 1, mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGTGCGGAGTGAGTGGCATG	0.498													C	146108024	T	C	146108024	3	2	163	1	0	0	0	0	1	0	0	0	17896	1696	59	3	1127	3	ZNF250	8	146108024	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	566208	146108024	255998	27	11336											
FBP2	8789	broad.mit.edu	37	chr9	97329591	97329591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacatattcagtggtggcCgcatcaaaatacttggcata	12	11	9	9	1	2	0	2	0	0	0	2	0	2	0	1	3	2	3	1	3	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr9:97329591C>T	uc004auv.3	-	4	733	c.666G>A	c.(664-666)gcG>gcA	p.A222A	BC080653_uc004aus.1_Intron|BC080653_uc004aut.1_Intron	NM_003837	NP_003828	O00757	F16P2_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 2 (FBP2), mRNA.	222					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				CAGTGGTGGCCGCATCAAAAT	0.463													T	97329591	C	T	97329591	2	4	163	1	0	0	0	0	0	0	0	1	5755	639	23	1		1	FBP2	9	97329591	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		97329591	43883840	28	11337											
ITIH2	3698	broad.mit.edu	37	chr10	7763617	7763617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgttctttctaggcgcaCgtctccttcaagcccacggt	6	11	8	16	4	4	0	1	0	3	0	5	0	4	0	3	2	1	2	3	2	2	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:7763617C>T	uc001ijs.3	+	7	906	c.744C>T	c.(742-744)caC>caT	p.H248H		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	248					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.H248L(1)|p.A247A(1)		NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTAGGCGCACGTCTCCTTCA	0.587													T	7763617	C	T	7763617	2	4	163	1	0	0	0	0	0	0	0	1	7962	535	19	1		1	ITIH2	10	7763617	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		7763617	127771130	29	11338											
EXOC6	54536	broad.mit.edu	37	chr10	94653171	94653171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttagatgcttgtatccGtaatcatgacaaggaaattg	15	12	9	5	1	1	2	1	1	0	1	2	3	2	3	1	1	1	4	1	1	6	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:94653171G>A	uc010qnr.2	+	2	358	c.215G>A	c.(214-216)cGt>cAt	p.R72H	EXOC6_uc001kie.3_Missense_Mutation_p.R51H|EXOC6_uc001kif.4_Missense_Mutation_p.R56H|EXOC6_uc001kig.3_Missense_Mutation_p.R56H|EXOC6_uc009xub.3_Missense_Mutation_p.R56H|EXOC6_uc009xuc.3_Missense_Mutation_p.R56H	NM_001013848	NP_001013870	Q8TAG9	EXOC6_HUMAN	Homo sapiens exocyst complex component 6 (EXOC6), transcript variant 2, mRNA.	56					protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				GCTTGTATCCGTAATCATGAC	0.333													A	94653171	G	A	94653171	3	1	163	1	0	0	0	0	1	0	0	0	5349	1145	40	1	263	1	EXOC6	10	94653171	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	86889554	94653171	40881576	30	11339											
SORBS1	10580	broad.mit.edu	37	chr10	97194458	97194458	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaaatagagcgtgcgcgTaaagggtcggcagttgctga	11	7	16	7	4	0	3	0	1	0	2	1	3	0	3	0	2	3	5	0	2	4	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr10:97194458T>A	uc001kkp.3	-	2	138	c.93A>T	c.(91-93)ttA>ttT	p.L31F	SORBS1_uc001kkn.3_Intron|SORBS1_uc001kkm.3_Missense_Mutation_p.L19F|SORBS1_uc001kko.3_Missense_Mutation_p.L31F|SORBS1_uc001kkq.3_Missense_Mutation_p.L31F|SORBS1_uc001kkr.3_Intron|SORBS1_uc001kks.3_Intron|SORBS1_uc001kkt.3_Intron|SORBS1_uc001kku.3_Missense_Mutation_p.L31F|SORBS1_uc001kkv.3_Intron|SORBS1_uc001kkw.3_Missense_Mutation_p.L31F|SORBS1_uc010qoe.2_Intron|SORBS1_uc010qof.1_Intron|SORBS1_uc001kkx.1_Intron	NM_001034954	NP_001030126	Q9BX66	SRBS1_HUMAN	Homo sapiens sorbin and SH3 domain containing 1 (SORBS1), transcript variant 3, mRNA.	31					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		AGCGTGCGCGTAAAGGGTCGG	0.483													A	97194458	T	A	97194458	3	1	163	1	0	0	0	0	1	0	0	0	15021	1635	57	5	4098	5	SORBS1	10	97194458	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	2541287	97194458	38340289	31	11340											
NLRP14	338323	broad.mit.edu	37	chr11	7065151	7065151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgtttgcggaccatcAggctgtctgtaactgtggta	6	12	14	9	2	2	0	1	0	1	0	2	1	2	1	2	4	2	4	2	4	2	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:7065151A>G	uc001mfb.1	+	3	2217	c.1894A>G	c.(1894-1896)Agg>Ggg	p.R632G		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	632					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCGGACCATCAGGCTGTCTGT	0.423													G	7065151	A	G	7065151	3	3	163	1	0	0	0	0	1	0	0	0	10552	179	7	3	1904	3	NLRP14	11	7065151	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08		7065151	127941365	32	11341											
OR5AN1	390195	broad.mit.edu	37	chr11	59132528	59132528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttctttgtacaggtcatGactgctatattaaccatgtt	10	17	6	8	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	7			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:59132528G>A	uc010rks.2	+	0	597	c.597G>A	c.(595-597)atG>atA	p.M199I		NM_001004729	NP_001004729	Q8NGI8	O5AN1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AN, member 1 (OR5AN1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V198V(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						TACAGGTCATGACTGCTATAT	0.408													A	59132528	G	A	59132528	3	1	163	1	0	0	0	0	1	0	0	0	11219	1290	45	2	599	2	OR5AN1	11	59132528	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	52067377	59132528	75873988	33	11342											
ATM	472	broad.mit.edu	37	chr11	108172455	108172455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatagtttctgggagatttAtaagatgacaacagatccaa	16	11	8	6	0	1	4	0	1	1	3	2	5	2	4	1	1	1	1	1	1	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:108172455A>G	uc001pkb.1	+	34	5643	c.5258A>G	c.(5257-5259)tAt>tGt	p.Y1753C	ATM_uc009yxr.1_Missense_Mutation_p.Y1753C|ATM_uc001pke.2_Missense_Mutation_p.Y405C|ATM_uc001pkg.1_Missense_Mutation_p.Y110C|ATM_uc009yxt.1_5'Flank	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1753					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGGGAGATTTATAAGATGACA	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G	108172455	A	G	108172455	3	3	163	1	0	0	0	0	1	0	0	0	1114	449	16	3	5392	3	ATM	11	108172455	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	49039927	108172455	26834061	34	11343											
BUD13	84811	broad.mit.edu	37	chr11	116633616	116633616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaggaaccatgacgggctCgcctaggaggagagggatct	10	6	16	9	2	1	3	0	2	1	1	2	7	1	6	2	5	1	1	2	5	2	1	rs139478949		TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr11:116633616C>T	uc001ppn.3	-	3	723	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	BUD13_uc001ppo.3_Intron|BUD13_uc009yzc.3_Missense_Mutation_p.R230Q	NM_032725	NP_116114	Q9BRD0	BUD13_HUMAN	Homo sapiens BUD13 homolog (S. cerevisiae) (BUD13), transcript variant 1, mRNA.	230	Arg-rich.							p.R230Q(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATGACGGGCTCGCCTAGGAGG	0.532													T	116633616	C	T	116633616	3	4	163	1	0	0	0	0	1	0	0	0	1583	884	31	1	1198	1	BUD13	11	116633616	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	8461161	116633616	18372900	35	11344											
TIMELESS	8914	broad.mit.edu	37	chr12	56822356	56822356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatgcggctgctctccCtcacagcctcatctggagat	7	11	10	13	1	4	3	2	2	2	1	5	4	4	3	2	2	3	2	2	2	0	0			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:56822356C>T	uc001slf.2	-	11	1553	c.1385G>A	c.(1384-1386)aGg>aAg	p.R462K	TIMELESS_uc001slg.2_Missense_Mutation_p.R461K	NM_003920	NP_003911	Q9UNS1	TIM_HUMAN	Homo sapiens timeless homolog (Drosophila) (TIMELESS), mRNA.	462					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCTGCTCTCCCTCACAGCCTC	0.557													T	56822356	C	T	56822356	3	4	163	1	0	0	0	0	1	0	0	0	16004	681	24	2	2313	2	TIMELESS	12	56822356	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		56822356	77029539	36	11345											
KCNC2	3747	broad.mit.edu	37	chr12	75601221	75601221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgccaggtcctcgtcGtcgccggggtcgccgccaat	3	8	14	16	7	0	0	0	0	0	0	5	0	1	0	6	4	0	0	6	4	1	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:75601221G>A	uc001sxg.1	-	1	1087	c.543C>T	c.(541-543)gaC>gaT	p.D181D	KCNC2_uc009zry.3_Silent_p.D181D|KCNC2_uc001sxe.3_Silent_p.D181D|KCNC2_uc001sxf.3_Silent_p.D181D|KCNC2_uc010stw.1_Silent_p.D181D	NM_139137	NP_631875	Q96PR1	KCNC2_HUMAN	Homo sapiens potassium voltage-gated channel, Shaw-related subfamily, member 2 (KCNC2), transcript variant 2, mRNA.	181					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTCCTCGTCGTCGCCGGGGT	0.726													A	75601221	G	A	75601221	2	1	163	1	0	0	0	0	0	0	0	1	8073	1136	40	1		1	KCNC2	12	75601221	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08	18778865	75601221	58250674	37	11346											
NTN4	59277	broad.mit.edu	37	chr12	96076575	96076575	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggaagtcaggaacttcaTgataccagtctatgtctgtg	11	11	11	8	1	4	1	2	1	2	0	4	4	4	3	1	2	2	0	1	2	4	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr12:96076575T>G	uc001tei.3	-	6	1867	c.1418A>C	c.(1417-1419)cAt>cCt	p.H473P	NTN4_uc009ztf.3_Missense_Mutation_p.H473P|NTN4_uc009ztg.3_Missense_Mutation_p.H436P	NM_021229	NP_067052	Q9HB63	NET4_HUMAN	Homo sapiens netrin 4 (NTN4), mRNA.	473					axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGGAACTTCATGATACCAGTC	0.423													G	96076575	T	G	96076575	3	3	163	1	0	0	0	0	1	0	0	0	10778	1464	51	5	484	5	NTN4	12	96076575	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	20475354	96076575	37775320	38	11347											
FOXA1	3169	broad.mit.edu	37	chr14	38061515	38061515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttgaacgtcttggcGtcgccgccgccgcccgcgcg	2	7	14	18	10	1	1	0	1	1	0	2	1	1	1	4	1	2	1	4	1	1	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:38061515G>A	uc001wuf.3	-	1	786	c.474C>T	c.(472-474)gaC>gaT	p.D158D	FOXA1_uc010tpz.2_Silent_p.D125D	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	158					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding	p.D158N(1)		breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		ACGTCTTGGCGTcgccgccgc	0.697													A	38061515	G	A	38061515	2	1	163	1	0	0	0	0	0	0	0	1	6038	1136	40	1		1	FOXA1	14	38061515	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08		38061515	69288025	39	11348											
TMEM229B	161145	broad.mit.edu	37	chr14	67940157	67940157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcagtcttgacatggcCgttggccagggctagggcgc	6	9	15	11	2	3	1	2	1	1	0	3	1	3	1	2	4	0	2	2	4	1	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:67940157C>T	uc001xjk.3	-	2	894	c.484G>A	c.(484-486)Ggc>Agc	p.G162S	TMEM229B_uc001xjj.1_Non-coding_Transcript|TMEM229B_uc021rvb.1_Missense_Mutation_p.G162S	NM_182526	NP_872332	Q8NBD8	T229B_HUMAN	Homo sapiens transmembrane protein 229B (TMEM229B), mRNA.	162						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTGACATGGCCGTTGGCCAGG	0.632													T	67940157	C	T	67940157	3	4	163	1	0	0	0	0	1	0	0	0	16248	652	23	1	23	1	TMEM229B	14	67940157	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	29878642	67940157	39409383	40	11349											
RPS6KL1	83694	broad.mit.edu	37	chr14	75388196	75388196	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgctcgtgagcaaggctCaggctccaggccggggctgg	5	6	17	13	3	1	1	1	1	0	0	3	1	2	1	3	6	2	5	3	6	1	0			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr14:75388196C>A	uc010tux.2	-	1	577	c.49G>T	c.(49-51)Gag>Tag	p.E17*	RPS6KL1_uc010asd.2_Non-coding_Transcript|RPS6KL1_uc021rwp.1_Nonsense_Mutation_p.E17*|RPS6KL1_uc001xqy.1_Nonsense_Mutation_p.E17*	NM_031464	NP_113652	Q9Y6S9	RPKL1_HUMAN	Homo sapiens ribosomal protein S6 kinase-like 1 (RPS6KL1), mRNA.	17						ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		GAGCAAGGCTCAGGCTCCAGG	0.607													A	75388196	C	A	75388196	4	1	163	1	0	0	0	0	0	1	0	0	13750	835	29	4	1616	4	RPS6KL1	14	75388196	Nonsense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	7448039	75388196	31961344	41	11350											
ACAN	176	broad.mit.edu	37	chr15	89386832	89386832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtgcatgccaaccagaCgggctaccccgacccctcat	9	6	8	18	3	1	1	1	0	0	1	1	2	1	1	6	1	5	2	6	1	3	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:89386832C>T	uc010upo.1	+	5	1378	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	ACAN_uc002bmx.3_Missense_Mutation_p.T335M|ACAN_uc010upp.1_Missense_Mutation_p.T335M|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	335					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCCAACCAGACGGGCTACCCC	0.657													T	89386832	C	T	89386832	3	4	163	1	0	0	0	0	1	0	0	0	117	536	19	1	1022	1	ACAN	15	89386832	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		89386832	13144560	42	11351											
LRRK1	79705	broad.mit.edu	37	chr15	101567475	101567475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcacagtgagatttcCtgcaagagcctggaaggtca	10	11	11	9	0	2	2	2	1	0	2	3	4	3	3	2	2	3	2	2	2	2	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr15:101567475C>T	uc002bwr.3	+	17	2734	c.2415C>T	c.(2413-2415)tcC>tcT	p.S805S	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	805	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GTGAGATTTCCTGCAAGAGCC	0.562													T	101567475	C	T	101567475	2	4	163	1	0	0	0	0	0	0	0	1	9102	668	24	2		2	LRRK1	15	101567475	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	12180643	101567475	963917	43	11352											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917794	48917794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctgcatgagcgggcCgctggccgcgtgcagcctgc	3	6	17	15	4	0	1	0	1	0	0	0	1	0	1	4	3	5	4	4	3	0	0			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:48917794C>T	uc002isv.4	+	1	1839	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	WFIKKN2_uc010dbu.3_Missense_Mutation_p.P289L	NM_175575	NP_783165	Q8TEU8	WFKN2_HUMAN	Homo sapiens WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2 (WFIKKN2), mRNA.	382						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			ATGAGCGGGCCGCTGGCCGCG	0.652													T	48917794	C	T	48917794	3	4	163	1	0	0	0	0	1	0	0	0	17461	652	23	1	1151	1	WFIKKN2	17	48917794	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		48917794	32277416	44	11353											
ABCA10	10349	broad.mit.edu	37	chr17	67188731	67188731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatccaataccccactttCgcttcagaaacaaagatgat	15	10	5	11	1	1	3	1	1	0	2	3	4	2	3	3	0	2	1	3	0	5	4	rs138792982	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:67188731C>T	uc010dfa.1	-	16	2723	c.1844G>A	c.(1843-1845)cGa>cAa	p.R615Q	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_Missense_Mutation_p.R216Q	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	615	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					ACCCCACTTTCGCTTCAGAAA	0.328													T	67188731	C	T	67188731	3	4	163	1	0	0	0	0	1	0	0	0	29	884	31	1	2883	1	ABCA10	17	67188731	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	18270937	67188731	14006479	45	11354											
DNAH17	8632	broad.mit.edu	37	chr17	76557880	76557880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttgagctgcccggccacGggaggcatgtttttgtggat	6	12	14	9	2	0	1	0	1	0	0	0	3	0	3	2	4	2	3	2	4	0	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr17:76557880G>A	uc010dhp.2	-	11	1877	c.1752C>T	c.(1750-1752)ccC>ccT	p.P584P	DNAH17_uc002jvv.2_Silent_p.P286P	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCCCGGCCACGGGAGGCATGT	0.577													A	76557880	G	A	76557880	2	1	163	1	0	0	0	0	0	0	0	1	4640	1103	39	1		1	DNAH17	17	76557880	Silent	SNP	G	TCGA-19-5950-01A-11D-1696-08	9369149	76557880	4637330	46	11355											
ANKRD12	23253	broad.mit.edu	37	chr18	9258903	9258903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catatctcctggatggaaacCccttaagcaagatttgtatt	12	13	7	9	0	1	1	0	0	1	1	2	3	1	3	3	2	2	2	3	2	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr18:9258903C>T	uc002knv.3	+	8	5902	c.5638C>T	c.(5638-5640)Ccc>Tcc	p.P1880S	ANKRD12_uc002knw.3_Missense_Mutation_p.P1857S|ANKRD12_uc002knx.3_Missense_Mutation_p.P1857S|ANKRD12_uc010dkx.1_Missense_Mutation_p.P1587S	NM_015208	NP_056023	Q6UB98	ANR12_HUMAN	Homo sapiens ankyrin repeat domain 12 (ANKRD12), transcript variant 1, mRNA.	1880						nucleus		p.P1880S(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GGATGGAAACCCCTTAAGCAA	0.383													T	9258903	C	T	9258903	3	4	163	1	0	0	0	0	1	0	0	0	640	623	22	2	5668	2	ANKRD12	18	9258903	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		9258903	68818345	47	11356											
ATCAY	85300	broad.mit.edu	37	chr19	3907801	3907801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttggggacggcacgaCggaggacggcagcgccgcca	8	5	16	12	6	1	0	0	0	1	0	1	4	1	3	2	6	1	2	2	6	1	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:3907801C>T	uc010xhz.2	+	5	929	c.446C>T	c.(445-447)aCg>aTg	p.T149M	ATCAY_uc002lyy.4_Missense_Mutation_p.T143M|ATCAY_uc010dts.3_5'Flank			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	143					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		GACGGCACGACGGAGGACGGC	0.637													T	3907801	C	T	3907801	3	4	163	1	0	0	0	0	1	0	0	0	1082	536	19	1	442	1	ATCAY	19	3907801	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08		3907801	55221182	48	11357											
HOMER3	9454	broad.mit.edu	37	chr19	19043763	19043784	+	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	CGCTCTGTGGGGCCGGGGGCAT	-																															acatcttctttagccgctcgCgctctgtggggccgggggca																								rs147820524	byFrequency	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:19043763_19043784delCGCTCTGTGGGGCCGGGGGCAT	uc002nku.2	-	4	1135_1156	c.482_503delATGCCCCCGGCCCCACAGAGCG	c.(481-504)gatgcccccggccccacagagcgcfs	p.D161fs	HOMER3_uc002nkp.1_Non-coding_Transcript|HOMER3_uc002nko.1_Non-coding_Transcript|HOMER3_uc010eby.2_Frame_Shift_Del_p.D125fs|HOMER3_uc010ebz.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkw.2_Frame_Shift_Del_p.D161fs|HOMER3_uc002nkv.2_Frame_Shift_Del_p.D161fs	NM_004838	NP_004829	Q9NSC5	HOME3_HUMAN	Homo sapiens homer homolog 3 (Drosophila) (HOMER3), transcript variant 2, mRNA.	161					metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TAGCCGCTCGCGCTCTGTGGGGCCGGGGGCATCAGCGCTCTG	0.671													-	19043784	CGCTCTGTGGGGCCGGGGGCAT	-	19043763	7	5	163	1	0	1	0	1	0	0	0	0	7335	768	27	0	602	0	HOMER3	19	19043763	Frame_Shift_Del	DEL	CGCTCTGTGGGGCCGGGGGCAT	TCGA-19-5950-01A-11D-1696-08	15135962	19043763	40085220	49	11358											
LSM14A	26065	broad.mit.edu	37	chr19	34710329	34710329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctccaaggagagggcGtgggggtcatcggggtggca	7	7	19	8	2	2	1	2	0	0	1	4	2	3	1	1	7	1	2	1	7	1	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr19:34710329G>A	uc002nvb.4	+	6	1011	c.815G>A	c.(814-816)cGt>cAt	p.R272H	LSM14A_uc002nva.4_Missense_Mutation_p.R272H|LSM14A_uc010xru.2_Missense_Mutation_p.R231H|LSM14A_uc002nvc.4_Missense_Mutation_p.R78H	NM_001114093	NP_001107565	Q8ND56	LS14A_HUMAN	Homo sapiens LSM14A, SCD6 homolog A (S. cerevisiae) (LSM14A), transcript variant 1, mRNA.	272					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule		p.R272C(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					AGGAGAGGGCGTGGGGGTCAT	0.443													A	34710329	G	A	34710329	3	1	163	1	0	0	0	0	1	0	0	0	9124	1145	40	1	841	1	LSM14A	19	34710329	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	15666566	34710329	24418654	50	11359											
CHGB	1114	broad.mit.edu	37	chr20	5903378	5903378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggagagacacaaaaCgcttttctcaatgaaagaaa	18	6	9	8	1	1	3	1	1	1	2	2	6	1	4	1	1	2	1	1	1	5	2	rs149359798	by1000genomes	TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:5903378C>T	uc002wmg.3	+	3	894	c.588C>T	c.(586-588)aaC>aaT	p.N196N	CHGB_uc010zqz.2_5'UTR	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	196						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGACACAAAACGCTTTTCTCA	0.483													T	5903378	C	T	5903378	2	4	163	1	0	0	0	0	0	0	0	1	3369	535	19	1		1	CHGB	20	5903378	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		5903378	57122142	51	11360											
CD93	22918	broad.mit.edu	37	chr20	23066544	23066544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttctctcgctggagccCaatccagaacttgctcatcc	7	10	7	17	1	2	1	1	0	1	1	6	2	4	2	4	1	3	2	4	1	2	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:23066544C>T	uc002wsv.3	-	0	434	c.286G>A	c.(286-288)Ggg>Agg	p.G96R		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	96	C-type lectin.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGCTGGAGCCCAATCCAGAAC	0.642													T	23066544	C	T	23066544	3	4	163	1	0	0	0	0	1	0	0	0	3077	594	21	2	1680	2	CD93	20	23066544	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	17163166	23066544	39958976	52	11361											
REM1	28954	broad.mit.edu	37	chr20	30070096	30070096	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctctcctgcaggataaaAgctggagccaggagtcatgc	10	8	11	12	0	2	0	1	0	1	0	4	3	3	3	3	3	4	2	3	3	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:30070096A>T	uc002wwa.3	+	3	714	c.430A>T	c.(430-432)Agc>Tgc	p.S144C		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	144					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			GCAGGATAAAAGCTGGAGCCA	0.587													T	30070096	A	T	30070096	3	4	163	1	0	0	0	0	1	0	0	0	13310	72	3	5	440	5	REM1	20	30070096	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	7003552	30070096	32955424	53	11362											
RBL1	5933	broad.mit.edu	37	chr20	35690525	35690525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggttatactccacattagCctgtgctgtcagtttcccta	9	14	7	11	0	1	0	1	0	0	0	3	0	3	0	3	1	3	3	3	1	5	5			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr20:35690525C>A	uc002xgi.3	-	7	1124	c.1045G>T	c.(1045-1047)Gct>Tct	p.A349S	RBL1_uc002xgj.1_Missense_Mutation_p.A349S|RBL1_uc010gfv.1_Non-coding_Transcript	NM_002895	NP_002886	P28749	RBL1_HUMAN	Homo sapiens retinoblastoma-like 1 (p107) (RBL1), transcript variant 1, mRNA.	349					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TCCACATTAGCCTGTGCTGTC	0.423													A	35690525	C	A	35690525	3	1	163	1	0	0	0	0	1	0	0	0	13197	739	26	4	2230	4	RBL1	20	35690525	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	5620429	35690525	27334995	54	11363											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253366	32253366	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacttagcaggttcttcGgcagctggacacgcaggact	10	8	11	12	2	1	0	0	0	1	0	2	2	1	2	0	4	2	5	0	4	1	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chr21:32253366G>A	uc002yov.3	-	0	509	c.478C>T	c.(478-480)Cga>Tga	p.R160*		NM_175858	NP_787054	Q8IUC1	KR111_HUMAN	Homo sapiens keratin associated protein 11-1 (KRTAP11-1), mRNA.	160						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						CAGGTTCTTCGGCAGCTGGAC	0.562													A	32253366	G	A	32253366	4	1	163	1	0	0	0	0	0	1	0	0	8575	1124	39	1	17	1	KRTAP11-1	21	32253366	Nonsense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08		32253366	15876529	55	11364											
ARSE	415	broad.mit.edu	37	chrX	2873479	2873479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgcacagggtatctgccCgtgaggaaggcggctctgct	7	8	15	11	3	2	1	0	1	2	0	3	3	2	2	1	4	2	4	1	4	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:2873479C>T	uc011mhh.2	-	4	821	c.360G>A	c.(358-360)acG>acA	p.T120T	ARSE_uc011mhi.2_Silent_p.T41T|ARSE_uc004crc.4_Silent_p.T95T			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	95					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTATCTGCCCGTGAGGAAGG	0.527													T	2873479	C	T	2873479	2	4	163	1	0	0	0	0	0	0	0	1	995	639	23	1		1	ARSE	23	2873479	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08		2873479	152397081	56	11365											
TLR7	51284	broad.mit.edu	37	chrX	12903821	12903821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcctggaggtattcccaCgaacaccacgaacctcaccc	12	7	6	16	2	1	0	1	0	0	0	3	3	3	1	5	2	2	1	5	2	4	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:12903821C>T	uc004cvc.3	+	2	333	c.194C>T	c.(193-195)aCg>aTg	p.T65M		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	65					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GGTATTCCCACGAACACCACG	0.488													T	12903821	C	T	12903821	3	4	163	1	0	0	0	0	1	0	0	0	16056	536	19	1	200	1	TLR7	23	12903821	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	10030342	12903821	142366739	57	11366											
DMD	1756	broad.mit.edu	37	chrX	32407637	32407637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacacaatgatttagctgtGactgtactacttcctgttcc	9	14	6	12	0	0	2	0	2	0	0	2	2	2	2	3	0	3	3	3	0	4	6			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:32407637G>A	uc004dda.1	-	31	4743	c.4499C>T	c.(4498-4500)tCa>tTa	p.S1500L	DMD_uc004dcw.2_Missense_Mutation_p.S156L|DMD_uc004dcx.2_Missense_Mutation_p.S159L|DMD_uc004dcz.2_Missense_Mutation_p.S1377L|DMD_uc004dcy.1_Missense_Mutation_p.S1496L|DMD_uc004ddb.1_Missense_Mutation_p.S1492L|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1500	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATTTAGCTGTGACTGTACTAC	0.393													A	32407637	G	A	32407637	3	1	163	1	0	0	0	0	1	0	0	0	4619	1294	45	2	6898	2	DMD	23	32407637	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	19503816	32407637	122862923	58	11367											
P2RY10	27334	broad.mit.edu	37	chrX	78216970	78216970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgtgaccaactatcccGccatggcagttctgtgaccc	7	11	9	14	2	1	2	0	2	1	0	3	2	2	2	4	1	1	3	4	1	2	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:78216970G>A	uc022bzl.1	+	0	953	c.953G>A	c.(952-954)cGc>cAc	p.R318H	P2RY10_uc004ede.3_Missense_Mutation_p.R318H|P2RY10_uc004edf.3_Missense_Mutation_p.R318H	NM_198333	NP_938147	O00398	P2Y10_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 10 (P2RY10), transcript variant 2, mRNA.	318						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R318C(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(22)|ovary(3)|skin(2)	42						CAACTATCCCGCCATGGCAGT	0.438													A	78216970	G	A	78216970	3	1	163	1	0	0	0	0	1	0	0	0	11423	1087	38	1	955	1	P2RY10	23	78216970	Missense_Mutation	SNP	G	TCGA-19-5950-01A-11D-1696-08	45809333	78216970	77053590	59	11368											
RPA4	29935	broad.mit.edu	37	chrX	96139918	96139918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcaatttcatccaggaCgaagtgctgcgtttgattca	10	11	9	11	3	2	1	2	1	0	0	3	3	3	2	2	1	2	3	2	1	2	3			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:96139918C>T	uc004efv.4	+	0	1012	c.609C>T	c.(607-609)gaC>gaT	p.D203D	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	203					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						TCATCCAGGACGAAGTGCTGC	0.522								Other identified genes with known or suspected DNA repair function					T	96139918	C	T	96139918	2	4	163	1	0	0	0	0	0	0	0	1	13630	535	19	1		1	RPA4	23	96139918	Silent	SNP	C	TCGA-19-5950-01A-11D-1696-08	17922948	96139918	59130642	60	11369											
RAB9B	51209	broad.mit.edu	37	chrX	103080537	103080537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctgcagtgtcccagaTctggagggttacaaagcgtc	8	9	12	12	1	1	1	0	0	1	1	3	2	2	2	2	2	4	2	2	2	2	1			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:103080537T>C	uc004ell.2	-	2	517	c.178A>G	c.(178-180)Atc>Gtc	p.I60V	RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Missense_Mutation_p.I60V	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.	60					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						GTGTCCCAGATCTGGAGGGTT	0.507													C	103080537	T	C	103080537	3	2	163	1	0	0	0	0	1	0	0	0	13047	1435	50	3	431	3	RAB9B	23	103080537	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	6940619	103080537	52190023	61	11370											
KLHL13	90293	broad.mit.edu	37	chrX	117043525	117043525	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggggctaacgatttccActcatgggccttttcatcat	8	13	9	11	1	3	0	3	0	0	0	4	1	4	0	2	3	1	1	2	3	1	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:117043525A>T	uc011mtp.2	-	5	1247	c.1114T>A	c.(1114-1116)Tgg>Agg	p.W372R	KLHL13_uc004eqk.3_Missense_Mutation_p.W318R|KLHL13_uc004eql.3_Missense_Mutation_p.W369R|KLHL13_uc011mtn.2_Missense_Mutation_p.W209R|KLHL13_uc011mto.2_Missense_Mutation_p.W363R|KLHL13_uc011mtq.2_Missense_Mutation_p.W353R|KLHL13_uc004eqm.3_Missense_Mutation_p.W327R|KLHL13_uc022cde.1_Missense_Mutation_p.W353R	NM_001168299	NP_001161775	Q9P2N7	KLH13_HUMAN	Homo sapiens kelch-like 13 (Drosophila) (KLHL13), transcript variant 2, mRNA.	369					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex		p.S371L(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						AACGATTTCCACTCATGGGCC	0.493													T	117043525	A	T	117043525	3	4	163	1	0	0	0	0	1	0	0	0	8427	159	6	5	874	5	KLHL13	23	117043525	Missense_Mutation	SNP	A	TCGA-19-5950-01A-11D-1696-08	13962988	117043525	38227035	62	11371											
MAGEA8	4107	broad.mit.edu	37	chrX	149013837	149013837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggagtaccgccaggCgcccggcagtgatcctgtgc	6	7	13	15	3	0	1	0	1	0	0	1	2	1	2	5	3	3	2	5	3	2	2			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:149013837C>T	uc022cgq.1	+	0	791	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MAGEA8_uc022cgo.1_Missense_Mutation_p.A264V|MAGEA8_uc004fdw.2_Missense_Mutation_p.A264V|MAGEA8_uc022cgp.1_Missense_Mutation_p.A264V	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	264	MAGE.							p.A264A(1)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TACCGCCAGGCGCCCGGCAGT	0.577													T	149013837	C	T	149013837	3	4	163	1	0	0	0	0	1	0	0	0	9244	768	27	1	793	1	MAGEA8	23	149013837	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	31970312	149013837	6256723	63	11372											
PNCK	139728	broad.mit.edu	37	chrX	152937465	152937465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcggtcaaacagctcgccaCccgtcaccctgggggtgcca	7	6	12	16	3	2	0	2	0	0	0	3	0	2	0	4	3	4	1	4	3	1	0			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:152937465C>T	uc011myu.2	-	4	719	c.533G>A	c.(532-534)gGt>gAt	p.G178D	PNCK_uc011myt.2_Missense_Mutation_p.G112D|PNCK_uc004fhz.4_5'UTR|PNCK_uc010nuh.2_3'UTR|PNCK_uc011myv.2_Missense_Mutation_p.G122D|PNCK_uc011myw.2_Missense_Mutation_p.G122D	NM_001039582	NP_001034671	Q6P2M8	KCC1B_HUMAN	Homo sapiens pregnancy up-regulated non-ubiquitously expressed CaM kinase (PNCK), transcript variant 1, mRNA.	95	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGCTCGCCACCCGTCACCCT	0.662													T	152937465	C	T	152937465	3	4	163	1	0	0	0	0	1	0	0	0	12222	507	18	2	775	2	PNCK	23	152937465	Missense_Mutation	SNP	C	TCGA-19-5950-01A-11D-1696-08	3923628	152937465	2333095	64	11373											
RAB39B	116442	broad.mit.edu	37	chrX	154490194	154490194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcctggattgtaatcTccccccttttaaccagctca	8	12	5	16	0	2	0	1	0	1	0	4	1	3	1	6	1	3	2	6	1	2	4			TCGA-19-5950-01A-11D-1696-08	TCGA-19-5950-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8d6626e2-ea32-4b1d-8f2b-389294121692	713b4752-50da-4548-a5a9-b45e9b496f4c	g.chrX:154490194T>C	uc004fne.3	-	1	815	c.536A>G	c.(535-537)gAg>gGg	p.E179G		NM_171998	NP_741995	Q96DA2	RB39B_HUMAN	Homo sapiens RAB39B, member RAS oncogene family (RAB39B), mRNA.	179					protein transport|small GTPase mediated signal transduction|synapse organization|vesicle-mediated transport	Golgi apparatus|plasma membrane	GTP binding			breast(1)|central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(12)	19	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GATTGTAATCTCCCCCCTTTT	0.463													C	154490194	T	C	154490194	3	2	163	1	0	0	0	0	1	0	0	0	13018	1551	54	3	109	3	RAB39B	23	154490194	Missense_Mutation	SNP	T	TCGA-19-5950-01A-11D-1696-08	1552729	154490194	780366	65	11374											
KIF17	57576	broad.mit.edu	37	chr1	21009246	21009246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtccccgctgtcctcatccGagttctgcagggcagccacc	6	8	10	17	2	2	0	1	0	1	0	5	1	5	0	6	1	2	4	6	1	0	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:21009246G>A	uc001bdr.4	-	10	2481	c.2363C>T	c.(2362-2364)tCg>tTg	p.S788L	KIF17_uc001bdp.4_Missense_Mutation_p.S66L|KIF17_uc009vpx.3_Missense_Mutation_p.S158L|KIF17_uc001bds.4_Missense_Mutation_p.S788L	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	788					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GTCCTCATCCGAGTTCTGCAG	0.607													A	21009246	G	A	21009246	3	1	164	1	0	0	0	0	1	0	0	0	8337	1059	37	1	746	1	KIF17	1	21009246	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		21009246	228241375	1	11375											
DNALI1	7802	broad.mit.edu	37	chr1	38025070	38025070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcatctgccctgtcCgcagggaactctactcacag	11	7	9	14	1	3	0	1	0	2	0	4	1	4	1	2	2	4	2	2	2	3	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:38025070C>T	uc001cbj.3	+	2	446	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DNALI1_uc010oie.2_Intron	NM_003462	NP_003453	O14645	IDLC_HUMAN	Homo sapiens dynein, axonemal, light intermediate chain 1 (DNALI1), mRNA.	124					cellular component movement|single fertilization	axonemal dynein complex	microtubule motor activity			breast(1)|kidney(1)|large_intestine(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGCCCTGTCCGCAGGGAACT	0.587													T	38025070	C	T	38025070	3	4	164	1	0	0	0	0	1	0	0	0	4698	652	23	1	446	1	DNALI1	1	38025070	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	17015824	38025070	211225551	2	11376											
TIE1	7075	broad.mit.edu	37	chr1	43784978	43784978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagattgcagacttcGgcctttctcggggagaggag	8	9	13	11	2	1	3	0	0	1	3	4	5	2	4	3	4	1	1	3	4	1	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:43784978G>T	uc001ciu.3	+	17	3172	c.2995G>T	c.(2995-2997)Ggc>Tgc	p.G999C	TIE1_uc010oke.2_Missense_Mutation_p.G954C|TIE1_uc009vwq.3_Missense_Mutation_p.G955C|TIE1_uc010okg.2_Missense_Mutation_p.G644C|TIE1_uc021omo.1_5'Flank	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	999	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCAGACTTCGGCCTTTCTCG	0.577													T	43784978	G	T	43784978	3	4	164	1	0	0	0	0	1	0	0	0	15993	1116	39	4	3065	4	TIE1	1	43784978	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	5759908	43784978	205465643	3	11377											
LCE3A	353142	broad.mit.edu	37	chr1	152595450	152595450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcaggcagcagctgcgctCggagctgggcccacagcccc	7	4	13	17	2	1	0	1	0	0	0	2	1	1	1	3	3	5	5	3	3	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:152595450C>T	uc010pdt.2	-	0	130	c.130G>A	c.(130-132)Gag>Aag	p.E44K		NM_178431	NP_848518	Q5TA76	LCE3A_HUMAN	Homo sapiens late cornified envelope 3A (LCE3A), mRNA.	44					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTGCGCTCGGAGCTGGGC	0.657													T	152595450	C	T	152595450	3	4	164	1	0	0	0	0	1	0	0	0	8728	893	31	1	142	1	LCE3A	1	152595450	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	108810472	152595450	96655171	4	11378											
HMCN1	83872	broad.mit.edu	37	chr1	186045741	186045741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacctcaagtgataaagtAttgattttgccaggtaaaga	14	12	9	6	0	1	4	1	3	0	1	1	4	1	4	2	1	1	2	2	1	6	6			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:186045741A>G	uc001grq.1	+	53	8701	c.8472A>G	c.(8470-8472)gtA>gtG	p.V2824V	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	2824	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTGATAAAGTATTGATTTTGC	0.428													G	186045741	A	G	186045741	2	3	164	1	0	0	0	0	0	0	0	1	7275	436	16	3		3	HMCN1	1	186045741	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	33450291	186045741	63204880	5	11379											
LEFTY2	7044	broad.mit.edu	37	chr1	226127598	226127598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccggctcctggaagagccGcagcacggcctgcaccagct	8	4	13	16	3	0	1	0	0	0	1	1	3	1	2	5	3	4	5	5	3	1	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:226127598G>A	uc001hpt.2	-	1	598	c.355C>T	c.(355-357)Cgg>Tgg	p.R119W	LEFTY2_uc010pvk.2_Intron|LEFTY2_uc009xek.2_Intron	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	119					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGGAAGAGCCGCAGCACGGCC	0.741													A	226127598	G	A	226127598	3	1	164	1	0	0	0	0	1	0	0	0	8775	1086	38	1	757	1	LEFTY2	1	226127598	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	40081857	226127598	23123023	6	11380											
OR2T1	26696	broad.mit.edu	37	chr1	248569915	248569915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggctctttggatggctTcctcctaacccccatcacca	6	11	9	15	0	2	0	1	0	1	0	4	1	4	1	5	4	1	2	5	4	1	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr1:248569915T>C	uc010pzm.2	+	0	620	c.620T>C	c.(619-621)tTc>tCc	p.F207S		NM_030904	NP_112166	O43869	OR2T1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 1 (OR2T1), mRNA.	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGATGGCTTCCTCCTAACC	0.537													C	248569915	T	C	248569915	3	2	164	1	0	0	0	0	1	0	0	0	11092	1783	62	3	622	3	OR2T1	1	248569915	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	22442317	248569915	680706	7	11381											
CCDC148	130940	broad.mit.edu	37	chr2	159215014	159215015	+	Frame_Shift_Ins	INS	-	-	T																															gcttcagttaatgcacgcaaINSttgttgatagtctactggtt																										TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:159215014_159215015insT	uc002tzq.3	-	1	407_408	c.93_94insA	c.(91-96)caattgfs	p.Q31fs	CCDC148_uc002tzr.3_5'UTR|CCDC148_uc010foh.3_5'UTR|CCDC148_uc010fok.2_Intron|CCDC148_uc010foi.2_Intron|CCDC148_uc010foj.2_5'UTR|CCDC148_uc002tzs.2_Frame_Shift_Ins_p.Q31fs	NM_138803	NP_620158	Q8NFR7	CC148_HUMAN	Homo sapiens coiled-coil domain containing 148 (CCDC148), transcript variant 1, mRNA.	31										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						AATGCACGCAATTGTTGATAGT	0.322													T	159215015	-	T	159215014	7	5	164	1	0	1	1	0	0	0	0	0	2808	98	4	0	1785	0	CCDC148	2	159215014	Frame_Shift_Ins	INS	-	TCGA-19-5951-01A-11D-1696-08		159215014	83984359	8	11382											
ITGB6	3694	broad.mit.edu	37	chr2	160993973	160993973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagccctttgtgtctcacGcaggagaaattgtcacactg	10	10	10	11	1	2	1	2	0	1	1	3	2	2	1	1	1	2	2	1	1	1	2	rs61737765	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:160993973G>A	uc002ubh.2	-	9	1647	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C	ITGB6_uc010fou.2_Silent_p.C544C|ITGB6_uc010zcq.1_Silent_p.C502C|ITGB6_uc010fov.1_Silent_p.C544C	NM_000888	NP_000879	P18564	ITB6_HUMAN	Homo sapiens integrin, beta 6 (ITGB6), mRNA.	544	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGTGTCTCACGCAGGAGAAAT	0.527													A	160993973	G	A	160993973	2	1	164	1	0	0	0	0	0	0	0	1	7957	1079	38	1		1	ITGB6	2	160993973	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	1778959	160993973	82205400	9	11383											
COL6A3	1293	broad.mit.edu	37	chr2	238275681	238275681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccaccttagtgttggCgtgtcttccccctttgtaga	6	13	10	12	1	1	1	0	0	1	1	2	1	2	1	4	2	0	2	4	2	3	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr2:238275681C>T	uc002vwl.2	-	10	5434	c.5149G>A	c.(5149-5151)Gcc>Acc	p.A1717T	COL6A3_uc002vwo.2_Missense_Mutation_p.A1511T|COL6A3_uc010znj.1_Missense_Mutation_p.A1110T	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1717	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTAGTGTTGGCGTGTCTTCCC	0.542													T	238275681	C	T	238275681	3	4	164	1	0	0	0	0	1	0	0	0	3732	768	27	1	4520	1	COL6A3	2	238275681	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	77281708	238275681	4923692	10	11384											
BSN	8927	broad.mit.edu	37	chr3	49689184	49689184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggtggggagcagcatgcGgcctttgctgcaggcccagg	7	6	17	11	1	0	0	0	0	0	0	0	1	0	1	2	6	5	4	2	6	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:49689184G>A	uc003cxe.4	+	4	2309	c.2195G>A	c.(2194-2196)cGg>cAg	p.R732Q		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	732					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCAGCATGCGGCCTTTGCTG	0.667													A	49689184	G	A	49689184	3	1	164	1	0	0	0	0	1	0	0	0	1539	1116	39	1	2213	1	BSN	3	49689184	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		49689184	148333246	11	11385											
SEMA3G	56920	broad.mit.edu	37	chr3	52475289	52475289	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcttaccacgcagacGcggcccacgcggctgacagt	8	5	11	17	5	1	2	0	1	1	1	1	2	1	2	3	2	2	3	3	2	1	1	rs138050174		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:52475289G>A	uc003dea.1	-	6	804	c.804C>T	c.(802-804)cgC>cgT	p.R268R		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	268	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity	p.R268C(1)		kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CCACGCAGACGCGGCCCACGC	0.612													A	52475289	G	A	52475289	2	1	164	1	0	0	0	0	0	0	0	1	14123	1074	38	1		1	SEMA3G	3	52475289	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	2786105	52475289	145547141	12	11386											
PLXNA1	5361	broad.mit.edu	37	chr3	126733439	126733439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaaggtgctgtgcaGccctgtggagagcgagtaca	8	7	17	9	2	0	1	0	0	0	1	0	3	0	1	1	3	5	4	1	3	2	1	rs138171477		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr3:126733439G>A	uc003ejg.3	+	11	2723	c.2723G>A	c.(2722-2724)aGc>aAc	p.S908N		NM_032242	NP_115618	Q9UIW2	PLXA1_HUMAN	Homo sapiens plexin A1 (PLXNA1), mRNA.	908	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GTGCTGTGCAGCCCTGTGGAG	0.701													A	126733439	G	A	126733439	3	1	164	1	0	0	0	0	1	0	0	0	12196	971	34	2	2769	2	PLXNA1	3	126733439	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	74258150	126733439	71288991	13	11387											
D4S234E	27065	broad.mit.edu	37	chr4	4411320	4411320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccgtgttggtcctcttCgccctggccttcctcacctg	1	14	9	17	2	3	0	1	0	2	0	7	0	5	0	6	2	0	1	6	2	0	3	rs143847165		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:4411320C>T	uc011bvz.2	+	6	1548	c.267C>T	c.(265-267)ttC>ttT	p.F89F	D4S234E_uc011bwa.1_Silent_p.F50F|D4S234E_uc003ghz.3_Silent_p.F89F|D4S234E_uc003gia.3_Silent_p.F89F	NM_014392	NP_055207	P42857	NSG1_HUMAN	Homo sapiens DNA segment on chromosome 4 (unique) 234 expressed sequence (D4S234E), transcript variant 1, mRNA.	89					dopamine receptor signaling pathway	Golgi membrane|integral to membrane|nucleus	dopamine receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12				UCEC - Uterine corpus endometrioid carcinoma (64;0.166)		TGGTCCTCTTCGCCCTGGCCT	0.617													T	4411320	C	T	4411320	2	4	164	1	0	0	0	0	0	0	0	1	4248	883	31	1		1	D4S234E	4	4411320	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		4411320	186742956	14	11388											
UGT2A3	79799	broad.mit.edu	37	chr4	69795715	69795715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttggctcctttgtggCgcatgacaaactcgatccag	7	11	12	11	2	0	1	0	1	0	0	3	2	2	1	2	3	2	3	2	3	1	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:69795715C>T	uc003hef.2	-	5	1431	c.1400G>A	c.(1399-1401)cGc>cAc	p.R467H	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	467						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TCCTTTGTGGCGCATGACAAA	0.488													T	69795715	C	T	69795715	3	4	164	1	0	0	0	0	1	0	0	0	17057	768	27	1	187	1	UGT2A3	4	69795715	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	65384395	69795715	121358561	15	11389											
EGF	1950	broad.mit.edu	37	chr4	110864421	110864421	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttgcagagagtatgtaaTatagagaaaaatgtttctgg	15	14	10	2	0	1	2	0	0	1	2	1	4	1	2	0	1	1	4	0	1	6	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:110864421T>C	uc003hzy.4	+	2	791	c.339T>C	c.(337-339)aaT>aaC	p.N113N	EGF_uc011cfu.2_Silent_p.N113N|EGF_uc011cfv.2_Silent_p.N113N	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	113					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	GAGTATGTAATATAGAGAAAA	0.254													C	110864421	T	C	110864421	2	2	164	1	0	0	0	0	0	0	0	1	5001	1403	49	3		3	EGF	4	110864421	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	41068706	110864421	80289855	16	11390											
FAT4	79633	broad.mit.edu	37	chr4	126241369	126241369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtacctctggtcaggtaaCactaattggcaaattagact	13	11	8	9	0	2	1	1	0	1	1	2	1	2	1	1	3	2	3	1	3	5	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:126241369C>T	uc003ifj.4	+	0	3803	c.3803C>T	c.(3802-3804)aCa>aTa	p.T1268I		NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	1268	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGTCAGGTAACACTAATTGGC	0.373													T	126241369	C	T	126241369	3	4	164	1	0	0	0	0	1	0	0	0	5741	478	17	2	3805	2	FAT4	4	126241369	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	15376948	126241369	64912907	17	11391											
INPP4B	8821	broad.mit.edu	37	chr4	143159105	143159105	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacatctgctctcgaattcGcatccacttattgtcagatg	9	14	7	11	2	3	2	1	1	2	1	6	3	4	2	1	0	1	2	1	0	2	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:143159105G>A	uc003iix.4	-	12	1343	c.748C>T	c.(748-750)Cga>Tga	p.R250*	INPP4B_uc003iiw.4_Nonsense_Mutation_p.R250*|INPP4B_uc011chm.2_Non-coding_Transcript|INPP4B_uc011chn.1_Nonsense_Mutation_p.R65*|INPP4B_uc011cho.1_Non-coding_Transcript|INPP4B_uc011chp.1_Nonsense_Mutation_p.R121*	NM_003866	NP_003857	O15327	INP4B_HUMAN	Homo sapiens inositol polyphosphate-4-phosphatase, type II, 105kDa (INPP4B), transcript variant 1, mRNA.	250					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	p.R250Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TCTCGAATTCGCATCCACTTA	0.318													A	143159105	G	A	143159105	4	1	164	1	0	0	0	0	0	1	0	0	7811	1095	38	1	2086	1	INPP4B	4	143159105	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	16917736	143159105	47995171	18	11392											
SH3RF1	57630	broad.mit.edu	37	chr4	170043337	170043337	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattccagcagcagcagcAgcggcggtggcgcctggtgg	6	5	16	14	3	0	0	0	0	0	0	1	0	1	0	3	5	5	4	3	5	0	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr4:170043337A>G	uc003isa.1	-	6	1595	c.1260T>C	c.(1258-1260)gcT>gcC	p.A420A	SH3RF1_uc010irc.1_Silent_p.A120A	NM_020870	NP_065921	Q7Z6J0	SH3R1_HUMAN	Homo sapiens SH3 domain containing ring finger 1 (SH3RF1), mRNA.	420	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CAGCAGCAGCAGCGGCGGTGG	0.582													G	170043337	A	G	170043337	2	3	164	1	0	0	0	0	0	0	0	1	14352	175	7	3		3	SH3RF1	4	170043337	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	26884232	170043337	21110939	19	11393											
DNAH5	1767	broad.mit.edu	37	chr5	13719110	13719110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtggtcatccagaggCggaacgcatcatgtacaagc	10	7	12	12	3	2	1	2	0	0	1	4	2	3	2	2	4	3	2	2	4	3	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:13719110C>T	uc003jfd.2	-	71	12422	c.12380G>A	c.(12379-12381)cGc>cAc	p.R4127H	DNAH5_uc003jfc.2_Missense_Mutation_p.R295H	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	4127	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCCAGAGGCGGAACGCATC	0.493									Kartagener syndrome				T	13719110	C	T	13719110	3	4	164	1	0	0	0	0	1	0	0	0	4643	768	27	1	1526	1	DNAH5	5	13719110	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		13719110	167196150	20	11394											
TRIO	7204	broad.mit.edu	37	chr5	14462975	14462975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccgacgccgtgcccctgCcgccacccatggccatccag	5	4	12	20	4	0	0	0	0	0	0	1	1	1	0	9	2	2	0	9	2	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:14462975C>G	uc003jff.3	+	35	5614	c.5608C>G	c.(5608-5610)Ccg>Gcg	p.P1870A	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc003jfh.1_Missense_Mutation_p.P1519A	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1870					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CGTGCCCCTGCCGCCACCCAT	0.652													G	14462975	C	G	14462975	3	3	164	1	0	0	0	0	1	0	0	0	16653	739	26	4	5750	4	TRIO	5	14462975	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	743865	14462975	166452285	21	11395											
GDNF	2668	broad.mit.edu	37	chr5	37816010	37816010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagacccaagtcagtgaCatttaaatgtattgcagtta	13	11	8	9	0	1	2	1	1	0	1	1	2	1	2	2	0	1	3	2	0	5	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:37816010C>T	uc011cpi.2	-	2	579	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	GDNF_uc011cpd.2_Missense_Mutation_p.V75I|GDNF_uc011cpe.2_Missense_Mutation_p.V101I|GDNF_uc011cpf.2_Missense_Mutation_p.V101I|GDNF_uc011cpg.2_Missense_Mutation_p.V144I|GDNF_uc011cph.2_Missense_Mutation_p.V118I	NM_000514	NP_000505	P39905	GDNF_HUMAN	Homo sapiens glial cell derived neurotrophic factor (GDNF), transcript variant 1, mRNA.	127					adult locomotory behavior|anti-apoptosis|axon guidance|branching involved in ureteric bud morphogenesis|enteric nervous system development|mRNA stabilization|negative regulation of neuron apoptosis|neural crest cell migration|peristalsis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of dopamine secretion|positive regulation of monooxygenase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of ureteric bud formation|postganglionic parasympathetic nervous system development|regulation of dopamine uptake|signal transduction|sympathetic nervous system development	extracellular region	growth factor activity|protein homodimerization activity			NS(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(8)|skin(2)	15	all_lung(31;0.00118)					AAGTCAGTGACATTTAAATGT	0.493													T	37816010	C	T	37816010	3	4	164	1	0	0	0	0	1	0	0	0	6378	478	17	2	259	2	GDNF	5	37816010	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	23353035	37816010	143099250	22	11396											
PIK3R1	5295	broad.mit.edu	37	chr5	67589199	67589213	+	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TAACCTTCAGTTCTG	-																															atatggcttctctgacccatTaaccttcagttctgtggttg																										TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:67589199_67589213delTAACCTTCAGTTCTG	uc003jva.3	+	9	1767_1781	c.1187_1201delTAACCTTCAGTTCTG	c.(1186-1203)ttaaccttcagttctgtg>ttg	p.TFSSV397del	PIK3R1_uc003jvc.3_In_Frame_Del_p.TFSSV97del|PIK3R1_uc003jvd.3_In_Frame_Del_p.TFSSV127del|PIK3R1_uc003jve.3_In_Frame_Del_p.TFSSV76del|PIK3R1_uc021xzn.1_In_Frame_Del_p.TFSSV34del|PIK3R1_uc011crb.2_In_Frame_Del_p.TFSSV67del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	397	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCTGACCCATTAACCTTCAGTTCTGTGGTTGAATT	0.326			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589213	TAACCTTCAGTTCTG	-	67589199	7	5	164	1	0	1	0	1	0	0	0	0	11995	1764	61	0	1351	0	PIK3R1	5	67589199	In_Frame_Del	DEL	TAACCTTCAGTTCTG	TCGA-19-5951-01A-11D-1696-08	29773189	67589199	113326061	23	11397											
PCDHAC2	56142	broad.mit.edu	37	chr5	140208958	140208958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagttggtggtaaccgcgCgggacgggggctcgccttcg	5	8	18	10	6	0	1	0	1	0	0	2	2	0	2	2	5	1	3	2	5	1	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140208958C>T	uc003lho.2	+	0	1309	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lhn.2_Missense_Mutation_p.R428W|PCDHAC2_uc011dab.2_Missense_Mutation_p.R428W	NM_018909	NP_061732	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 6 (PCDHA6), transcript variant 1, mRNA.	442	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTAACCGCGCGGGACGGGGG	0.617													T	140208958	C	T	140208958	3	4	164	1	0	0	0	0	1	0	0	0	11609	759	27	1		1	PCDHAC2	5	140208958	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	72619759	140208958	40706302	24	11398											
PCDHGC5	56111	broad.mit.edu	37	chr5	140735359	140735359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagagctggtgctggaaCgcgctctagatcgcgaggaa	10	6	14	11	4	1	2	0	0	1	2	2	5	1	4	1	3	3	3	1	3	3	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:140735359C>T	uc003ljq.2	+	0	592	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Missense_Mutation_p.R198C	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCTGGAACGCGCTCTAGA	0.562													T	140735359	C	T	140735359	3	4	164	1	0	0	0	0	1	0	0	0	11647	536	19	1		1	PCDHGC5	5	140735359	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	526401	140735359	40179901	25	11399											
PPARGC1B	133522	broad.mit.edu	37	chr5	149219665	149219665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggcacgccaggaagcggCgggaaaaggccattgtaagt	11	5	15	10	4	0	0	0	0	0	0	1	2	1	2	3	5	1	2	3	5	4	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr5:149219665C>T	uc003lrc.3	+	8	2771	c.2680C>T	c.(2680-2682)Cgg>Tgg	p.R894W	PPARGC1B_uc003lrb.2_Missense_Mutation_p.R894W|PPARGC1B_uc003lrd.3_Missense_Mutation_p.R855W|PPARGC1B_uc021yfr.1_Missense_Mutation_p.R830W|PPARGC1B_uc003lre.1_Missense_Mutation_p.R873W|PPARGC1B_uc003lrf.3_Missense_Mutation_p.R873W	NM_133263	NP_573570	Q86YN6	PRGC2_HUMAN	Homo sapiens peroxisome proliferator-activated receptor gamma, coactivator 1 beta (PPARGC1B), transcript variant 1, mRNA.	894					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGAAGCGGCGGGAAAAGGC	0.577													T	149219665	C	T	149219665	3	4	164	1	0	0	0	0	1	0	0	0	12378	759	27	1	2721	1	PPARGC1B	5	149219665	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	8484306	149219665	31695595	26	11400											
NRN1	51299	broad.mit.edu	37	chr6	5999377	5999377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttatcccacatatctttCgccccttcctggcaatccgt	7	14	5	15	2	1	0	0	0	1	0	5	0	4	0	5	1	0	2	5	1	3	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:5999377C>T	uc003mwu.3	-	2	912	c.261G>A	c.(259-261)gcG>gcA	p.A87A	NRN1_uc021ykx.1_Non-coding_Transcript	NM_016588	NP_057672	Q9NPD7	NRN1_HUMAN	Homo sapiens neuritin 1 (NRN1), mRNA.	87						anchored to membrane|plasma membrane				endometrium(2)|large_intestine(2)|lung(4)	8	Ovarian(93;0.0816)	all_hematologic(90;0.151)		OV - Ovarian serous cystadenocarcinoma(45;0.00415)		ACATATCTTTCGCCCCTTCCT	0.527													T	5999377	C	T	5999377	2	4	164	1	0	0	0	0	0	0	0	1	10734	871	31	1		1	NRN1	6	5999377	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		5999377	165115690	27	11401											
DSP	1832	broad.mit.edu	37	chr6	7584664	7584664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatcgtttaccagttgacaTagcatataagaggggctatt	12	12	9	8	1	0	2	0	1	0	1	1	2	0	2	2	2	2	4	2	2	5	8			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr6:7584664T>C	uc003mxp.1	+	23	7448	c.7169T>C	c.(7168-7170)aTa>aCa	p.I2390T	DSP_uc003mxq.1_Missense_Mutation_p.I1791T|DSP_uc021yle.1_Missense_Mutation_p.I1947T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2390	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCAGTTGACATAGCATATAAG	0.443													C	7584664	T	C	7584664	3	2	164	1	0	0	0	0	1	0	0	0	4820	1406	49	3	7263	3	DSP	6	7584664	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	1585287	7584664	163530403	28	11402											
GPR146	115330	broad.mit.edu	37	chr7	1098107	1098107	+	Frame_Shift_Del	DEL	G	G	-																															aaagctgccctgcggggaccGgcactgctccccggaccaca																								rs147446123		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:1098107delG	uc003sjx.4	+	1	1155	c.956delG	c.(955-957)cggfs	p.R319fs	C7orf50_uc003sju.2_Intron|C7orf50_uc011jvt.1_Intron|C7orf50_uc011jvu.1_Intron|GPR146_uc003sjy.1_Frame_Shift_Del_p.R319fs	NM_138445	NP_612454	Q96CH1	GP146_HUMAN	Homo sapiens G protein-coupled receptor 146 (GPR146), mRNA.	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|ovary(1)|skin(1)	8		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		TGCGGGGACCGGCACTGCTCC	0.617													-	1098107	G	-	1098107	7	5	164	1	0	1	0	1	0	0	0	0	6706	1116	39	0	958	0	GPR146	7	1098107	Frame_Shift_Del	DEL	G	TCGA-19-5951-01A-11D-1696-08		1098107	158040556	29	11403											
PDE1C	5137	broad.mit.edu	37	chr7	31855673	31855673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcagctttgccagatgCgccttcttcagcctggcttt	4	16	8	13	1	3	1	2	0	2	1	4	1	3	1	3	1	4	2	3	1	0	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:31855673C>T	uc003tcm.2	-	14	2139	c.1678G>A	c.(1678-1680)Gca>Aca	p.A560T	PDE1C_uc003tcn.1_Missense_Mutation_p.A560T|PDE1C_uc003tco.2_Missense_Mutation_p.A620T|PDE1C_uc003tcr.3_Missense_Mutation_p.A560T|PDE1C_uc003tcs.3_Missense_Mutation_p.A560T	NM_001191057	NP_001177988	Q14123	PDE1C_HUMAN	Homo sapiens phosphodiesterase 1C, calmodulin-dependent 70kDa (PDE1C), transcript variant 2, mRNA.	560					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGCCAGATGCGCCTTCTTCA	0.502													T	31855673	C	T	31855673	3	4	164	1	0	0	0	0	1	0	0	0	11711	768	27	1	238	1	PDE1C	7	31855673	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	30757566	31855673	127282990	30	11404											
CD36	948	broad.mit.edu	37	chr7	80295787	80295787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctattgggaaagtcactgcGacatgattaatggtacaggt	12	11	11	7	1	1	1	1	1	0	0	1	3	1	2	1	3	2	1	1	3	4	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:80295787G>A	uc003uhc.3	+	10	1414	c.730G>A	c.(730-732)Gac>Aac	p.D244N	CD36_uc011kgv.2_Missense_Mutation_p.D168N|CD36_uc003uhd.4_Missense_Mutation_p.D244N|CD36_uc003uhe.4_Missense_Mutation_p.D244N|CD36_uc003uhf.4_Missense_Mutation_p.D244N|CD36_uc003uhg.4_Missense_Mutation_p.D244N|CD36_uc003uhh.4_Missense_Mutation_p.D244N|CD36_uc022agu.1_Intron|CD36_uc022agv.1_Missense_Mutation_p.D184N	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	244					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						AAGTCACTGCGACATGATTAA	0.348													A	80295787	G	A	80295787	3	1	164	1	0	0	0	0	1	0	0	0	3037	1058	37	1	752	1	CD36	7	80295787	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	48440114	80295787	78842876	31	11405											
SLC26A4	5172	broad.mit.edu	37	chr7	107303838	107303838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatggctgcttagtgacGtcatttcgggagttagtact	9	13	13	6	2	1	1	1	1	0	0	2	3	1	3	0	3	2	4	0	3	4	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:107303838G>A	uc003vep.3	+	2	486	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	LOC286002_uc003veo.3_5'Flank	NM_000441	NP_000432	O43511	S26A4_HUMAN	Homo sapiens solute carrier family 26, member 4 (SLC26A4), mRNA.	88					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						GCTTAGTGACGTCATTTCGGG	0.502									Pendred syndrome				A	107303838	G	A	107303838	3	1	164	1	0	0	0	0	1	0	0	0	14613	1145	40	1	268	1	SLC26A4	7	107303838	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	27008051	107303838	51834825	32	11406											
WDR91	29062	broad.mit.edu	37	chr7	134874110	134874110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataccaaacagccggatgAcgccatcagctgcccctgtg	10	6	10	15	2	1	1	1	1	0	0	1	2	1	2	5	1	5	2	5	1	2	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:134874110A>G	uc003vsp.2	-	11	1816	c.1754T>C	c.(1753-1755)gTc>gCc	p.V585A	WDR91_uc010lmr.2_Non-coding_Transcript|WDR91_uc010lmq.2_Missense_Mutation_p.V174A	NM_014149	NP_054868	A4D1P6	WDR91_HUMAN	Homo sapiens WD repeat domain 91 (WDR91), mRNA.	585										breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CAGCCGGATGACGCCATCAGC	0.488													G	134874110	A	G	134874110	3	3	164	1	0	0	0	0	1	0	0	0	17440	275	10	3	505	3	WDR91	7	134874110	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	27570272	134874110	24264553	33	11407											
OR2F2	135948	broad.mit.edu	37	chr7	143632553	143632553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtctcctatgccacaagCgtagtcccccagctgctggc	7	9	10	15	1	1	0	0	0	1	0	3	1	2	0	4	1	4	3	4	1	3	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:143632553C>T	uc011ktv.2	+	0	228	c.228C>T	c.(226-228)agC>agT	p.S76S		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T75R(1)|p.T75T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					ATGCCACAAGCGTAGTCCCCC	0.517													T	143632553	C	T	143632553	2	4	164	1	0	0	0	0	0	0	0	1	11073	767	27	1		1	OR2F2	7	143632553	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	8758443	143632553	15506110	34	11408											
NOBOX	135935	broad.mit.edu	37	chr7	144098293	144098293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccacagggcactgggttGtgtgtggcacgggctgagtt	6	9	17	9	1	0	1	0	1	0	0	0	2	0	1	1	4	0	5	1	4	0	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr7:144098293G>T	uc022aoj.1	-	3	690	c.690C>A	c.(688-690)caC>caA	p.H230Q		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	230					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					GCACTGGGTTGTGTGTGGCAC	0.617													T	144098293	G	T	144098293	3	4	164	1	0	0	0	0	1	0	0	0	10588	1368	48	4	1317	4	NOBOX	7	144098293	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	465740	144098293	15040370	35	11409											
DOCK5	80005	broad.mit.edu	37	chr8	25246735	25246735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggaagacatcaagtcGtcccccaagcagtgtatcct	10	8	10	13	1	1	1	1	0	0	1	4	2	3	2	4	2	1	2	4	2	4	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:25246735G>A	uc003xeg.3	+	40	4397	c.4260G>A	c.(4258-4260)tcG>tcA	p.S1420S	DOCK5_uc003xek.3_Silent_p.S209S|DOCK5_uc003xei.3_Silent_p.S990S|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1420	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACATCAAGTCGTCCCCCAAGC	0.567													A	25246735	G	A	25246735	2	1	164	1	0	0	0	0	0	0	0	1	4729	1132	40	1		1	DOCK5	8	25246735	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		25246735	121117287	36	11410											
BRF2	55290	broad.mit.edu	37	chr8	37704528	37704528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaggggccagttatgctgtCggcaggtgattaagacgcag	9	10	15	7	2	0	2	0	1	0	1	1	2	0	2	1	4	1	4	1	4	3	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:37704528C>T	uc003xkk.3	-	2	510	c.380G>A	c.(379-381)cGa>cAa	p.R127Q		NM_018310	NP_060780	Q9HAW0	BRF2_HUMAN	Homo sapiens BRF2, subunit of RNA polymerase III transcription initiation factor, BRF1-like (BRF2), mRNA.	127					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			GTTATGCTGTCGGCAGGTGAT	0.527													T	37704528	C	T	37704528	3	4	164	1	0	0	0	0	1	0	0	0	1520	884	31	1	887	1	BRF2	8	37704528	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	12457793	37704528	108659494	37	11411											
SOX17	64321	broad.mit.edu	37	chr8	55371633	55371633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcaagtcgtggaaggCgctgacgctggcggagaagc	9	5	18	9	4	0	2	0	1	0	1	1	4	0	3	0	5	2	4	0	5	3	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:55371633C>T	uc003xsb.4	+	1	527	c.323C>T	c.(322-324)gCg>gTg	p.A108V		NM_022454	NP_071899	Q9H6I2	SOX17_HUMAN	Homo sapiens SRY (sex determining region Y)-box 17 (SOX17), mRNA.	108					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TCGTGGAAGGCGCTGACGCTG	0.701													T	55371633	C	T	55371633	3	4	164	1	0	0	0	0	1	0	0	0	15041	768	27	1	329	1	SOX17	8	55371633	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	17667105	55371633	90992389	38	11412											
WDR67	93594	broad.mit.edu	37	chr8	124113069	124113069	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggagtactaagtcaagAtggtattatgagatttatca	13	15	9	4	0	3	2	2	1	1	2	3	4	3	3	0	2	1	2	0	2	6	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:124113069A>G	uc003ypp.2	+	6	944	c.854A>G	c.(853-855)gAt>gGt	p.D285G	WDR67_uc011lig.2_Missense_Mutation_p.D285G|WDR67_uc011lih.2_Missense_Mutation_p.D175G|WDR67_uc003ypq.2_Non-coding_Transcript|WDR67_uc003yps.2_5'UTR|WDR67_uc003ypo.1_Missense_Mutation_p.D285G|WDR67_uc003ypr.3_Non-coding_Transcript	NM_145647	NP_663622	Q96DN5	WDR67_HUMAN	Homo sapiens WD repeat domain 67 (WDR67), transcript variant 1, mRNA.	285						centrosome	Rab GTPase activator activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	Lung NSC(37;7e-10)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CTAAGTCAAGATGGTATTATG	0.353													G	124113069	A	G	124113069	3	3	164	1	0	0	0	0	1	0	0	0	17420	333	12	3	880	3	WDR67	8	124113069	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	68741436	124113069	22250953	39	11413											
ADCY8	114	broad.mit.edu	37	chr8	131896832	131896832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgctccaggctggagtctTtaaacatcagtgagaatggc	10	11	12	8	0	2	1	1	1	1	1	3	3	3	2	1	3	2	2	1	3	3	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr8:131896832T>G	uc003ytd.4	-	7	2343	c.2087A>C	c.(2086-2088)aAa>aCa	p.K696T	ADCY8_uc010mds.3_Missense_Mutation_p.K696T	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	696					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCTGGAGTCTTTAAACATCAG	0.468										HNSCC(32;0.087)			G	131896832	T	G	131896832	3	3	164	1	0	0	0	0	1	0	0	0	300	1841	64	5	1712	5	ADCY8	8	131896832	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	7783763	131896832	14467190	40	11414											
KIF24	347240	broad.mit.edu	37	chr9	34257897	34257897	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggggagctctgaattcGttttggagaggagtttccag	8	11	14	8	1	1	2	0	1	1	1	3	5	2	4	2	4	1	3	2	4	1	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:34257897G>A	uc003zua.4	-	10	1828	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KIF24_uc010mkb.3_Intron	NM_194313	NP_919289	Q5T7B8	KIF24_HUMAN	Homo sapiens kinesin family member 24 (KIF24), mRNA.	570					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CTCTGAATTCGTTTTGGAGAG	0.448													A	34257897	G	A	34257897	4	1	164	1	0	0	0	0	0	1	0	0	8350	1153	40	1	2410	1	KIF24	9	34257897	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		34257897	106955534	41	11415											
COL15A1	1306	broad.mit.edu	37	chr9	101810265	101810265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaagggtaccaaaggagatCcaggggtcattatgcaggtg	12	8	14	7	0	2	1	2	0	0	1	3	2	3	1	2	5	2	2	2	5	4	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:101810265C>A	uc004azb.1	+	27	2982	c.2776C>A	c.(2776-2778)Cca>Aca	p.P926T		NM_001855	NP_001846	P39059	COFA1_HUMAN	Homo sapiens collagen, type XV, alpha 1 (COL15A1), mRNA.	926	Triple-helical region 5 (COL5).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CAAAGGAGATCCAGGGGTCAT	0.617													A	101810265	C	A	101810265	3	1	164	1	0	0	0	0	1	0	0	0	3703	855	30	4	2886	4	COL15A1	9	101810265	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	67552368	101810265	39403166	42	11416											
C9orf86	55684	broad.mit.edu	37	chr9	139726289	139726289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgccggacgacgtgcGtgacttcatcgacaacctgg	8	8	11	14	5	1	1	1	1	0	0	3	4	2	2	3	2	3	0	3	2	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr9:139726289G>A	uc004cjj.1	+	5	1032	c.575G>A	c.(574-576)cGt>cAt	p.R192H	C9orf86_uc004cjm.2_Missense_Mutation_p.R192H|C9orf86_uc004cjh.3_Missense_Mutation_p.R192H|C9orf86_uc004cji.1_Missense_Mutation_p.R192H|C9orf86_uc004cjk.1_Non-coding_Transcript|C9orf86_uc004cjl.1_Non-coding_Transcript|C9orf86_uc010nbs.1_Missense_Mutation_p.R77H	NM_001173988	NP_001167459	Q3YEC7	PARF_HUMAN	Homo sapiens chromosome 9 open reading frame 86 (C9orf86), transcript variant 3, mRNA.	192	Small GTPase-like.				small GTPase mediated signal transduction	cytoplasm|nucleus	GTP binding|protein binding			endometrium(4)|kidney(1)|lung(4)	9	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.61e-05)|Epithelial(140;0.000183)		GACGACGTGCGTGACTTCATC	0.677													A	139726289	G	A	139726289	3	1	164	1	0	0	0	0	1	0	0	0	2528	1145	40	1	597	1	C9orf86	9	139726289	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	37916024	139726289	1487142	43	11417											
OR51A7	119687	broad.mit.edu	37	chr11	4929295	4929295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcattgcatctttggcagaGaggcttaaggccctaaatac	12	10	10	9	0	1	1	0	0	1	1	1	2	1	1	1	3	3	4	1	3	4	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:4929295G>T	uc010qyq.2	+	0	696	c.696G>T	c.(694-696)gaG>gaT	p.E232D		NM_001004749	NP_001004749	Q8NH64	O51A7_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 7 (OR51A7), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(7)|lung(13)|ovary(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTTTGGCAGAGAGGCTTAAGG	0.478													T	4929295	G	T	4929295	3	4	164	1	0	0	0	0	1	0	0	0	11164	933	33	4	698	4	OR51A7	11	4929295	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		4929295	130077221	44	11418											
OR52B6	340980	broad.mit.edu	37	chr11	5602633	5602633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagcttcatcattatgtTtccatccatctttctccttg	7	17	3	14	0	4	0	2	0	2	0	7	0	6	0	4	0	1	2	4	0	1	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:5602633T>A	uc010qzi.2	+	0	527	c.527T>A	c.(526-528)tTt>tAt	p.F176Y	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATTATGTTTCCATCCATC	0.498													A	5602633	T	A	5602633	3	1	164	1	0	0	0	0	1	0	0	0	11189	1841	64	5	529	5	OR52B6	11	5602633	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	673338	5602633	129403883	45	11419											
PIK3C2A	5286	broad.mit.edu	37	chr11	17111388	17111388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaagaaaaaattctccCgcagagattctgcactgagt	14	8	7	12	1	2	3	0	1	2	2	3	4	2	3	2	0	1	2	2	0	4	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:17111388C>T	uc001mmq.4	-	31	5023	c.4958G>A	c.(4957-4959)cGg>cAg	p.R1653Q	PIK3C2A_uc009ygu.1_Intron|PIK3C2A_uc010rcw.2_Missense_Mutation_p.R1273Q|PIK3C2A_uc001mmr.3_Intron	NM_002645	NP_002636	O00443	P3C2A_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, alpha polypeptide (PIK3C2A), mRNA.	1653	C2.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAAATTCTCCCGCAGAGATTC	0.413													T	17111388	C	T	17111388	3	4	164	1	0	0	0	0	1	0	0	0	11986	652	23	1	106	1	PIK3C2A	11	17111388	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	11508755	17111388	117895128	46	11420											
MS4A14	84689	broad.mit.edu	37	chr11	60184370	60184370	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaactgttatgccaagaTtcagaatcccaaatacagca	17	8	5	11	0	1	2	1	0	0	2	2	2	2	2	3	0	4	2	3	0	7	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:60184370T>C	uc001npj.3	+	4	2494	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	MS4A14_uc001npi.3_Silent_p.D531D|MS4A14_uc001npn.3_Silent_p.D381D|MS4A14_uc001npk.3_Silent_p.D626D|MS4A14_uc001npl.3_Silent_p.D381D|MS4A14_uc001npm.3_Silent_p.D381D	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	643	Gln-rich.					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						TATGCCAAGATTCAGAATCCC	0.473													C	60184370	T	C	60184370	2	2	164	1	0	0	0	0	0	0	0	1	9934	1490	52	3		3	MS4A14	11	60184370	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	43072982	60184370	74822146	47	11421											
RBM14	5936	broad.mit.edu	37	chr11	66411465	66411465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctacagccccagtcccCactgttggagagggctacgg	7	6	13	15	3	0	1	0	0	0	1	1	2	1	1	4	3	3	3	4	3	2	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:66411465C>T	uc009yrj.3	+	2	1445	c.957C>T	c.(955-957)ccC>ccT	p.P319P	RBM14_uc009yrk.3_Silent_p.P294P|RBM14_uc021qmb.1_Intron|RBM14_uc001oiw.2_Silent_p.P319P|RBM14_uc001oix.2_Intron|RBM14_uc010rpj.2_Intron|RBM14_uc001oiz.2_Silent_p.P319P	NM_002896	NP_002887	Q96PK6	RBM14_HUMAN	Homo sapiens RNA binding motif protein 4 (RBM4), transcript variant 1, mRNA.	510	Ala-rich.|TRBP-interacting domain.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCCCAGTCCCCACTGTTGGAG	0.622													T	66411465	C	T	66411465	2	4	164	1	0	0	0	0	0	0	0	1	13203	581	21	2		2	RBM14	11	66411465	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	6227095	66411465	68595051	48	11422											
POU2AF1	5450	broad.mit.edu	37	chr11	111229596	111229596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggctccttcacacggaCgccctggtatggccgggccg	5	7	13	16	4	1	0	1	0	0	0	2	1	2	1	4	5	0	2	4	5	1	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:111229596C>T	uc001plg.4	-	1	319	c.64G>A	c.(64-66)Gtc>Atc	p.V22I		NM_006235	NP_006226	Q16633	OBF1_HUMAN	Homo sapiens POU class 2 associating factor 1 (POU2AF1), mRNA.	22					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		TTCACACGGACGCCCTGGTAT	0.647			T	BCL6	NHL								T	111229596	C	T	111229596	3	4	164	1	0	0	0	0	1	0	0	0	12347	536	19	1	722	1	POU2AF1	11	111229596	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	44818131	111229596	23776920	49	11423											
CD3E	916	broad.mit.edu	37	chr11	118183512	118183512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaattggagcaaagtggtTattatgtctgctaccccaga	12	11	10	8	0	1	2	0	0	1	2	1	3	1	3	2	2	3	3	2	2	5	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:118183512T>C	uc001psq.4	+	5	539	c.283T>C	c.(283-285)Tat>Cat	p.Y95H	CD3E_uc010rya.2_Missense_Mutation_p.Y95H	NM_000733	NP_000724	P07766	CD3E_HUMAN	Homo sapiens CD3e molecule, epsilon (CD3-TCR complex) (CD3E), mRNA.	95	Ig-like.				G-protein coupled receptor protein signaling pathway|signal complex assembly|T cell costimulation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	external side of plasma membrane|integral to plasma membrane	protein heterodimerization activity|protein kinase binding|receptor signaling complex scaffold activity|receptor signaling protein activity|SH3 domain binding|T cell receptor binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|ovary(2)|stomach(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.09e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0251)	Muromonab(DB00075)	GCAAAGTGGTTATTATGTCTG	0.443													C	118183512	T	C	118183512	3	2	164	1	0	0	0	0	1	0	0	0	3041	1754	61	3	301	3	CD3E	11	118183512	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	6953916	118183512	16823004	50	11424											
C1QTNF5	83552	broad.mit.edu	37	chr11	119215663	119215663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcagagacgaagaccaccagGaggtggctggcattggtgtt	10	8	15	8	1	1	2	1	0	0	2	1	5	1	3	2	5	0	3	2	5	1	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:119215663G>A	uc010rzg.1	-	5	853	c.693C>T	c.(691-693)ctC>ctT	p.L231L	C1QTNF5_uc001pwj.2_5'UTR			Q9BY79	MFRP_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 5 (C1QTNF5), mRNA.	231	CUB 1.				embryo development	integral to membrane				endometrium(1)|lung(2)	3		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		AGACCACCAGGAGGTGGCTGG	0.617													A	119215663	G	A	119215663	2	1	164	1	0	0	0	0	0	0	0	1	1986	1161	41	2		2	C1QTNF5	11	119215663	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	1032151	119215663	15790853	51	11425											
OR10G7	390265	broad.mit.edu	37	chr11	123909127	123909127	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacaaagatgaccatctcGttggctgaggtgtctgcaca	10	11	10	10	1	3	3	1	2	2	1	4	3	3	3	1	2	1	3	1	2	1	2	rs147011748	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr11:123909127G>A	uc001pzq.1	-	0	582	c.582C>T	c.(580-582)aaC>aaT	p.N194N		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.N194N(2)|p.N194K(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGACCATCTCGTTGGCTGAGG	0.537													A	123909127	G	A	123909127	2	1	164	1	0	0	0	0	0	0	0	1	10978	1136	40	1		1	OR10G7	11	123909127	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	4693464	123909127	11097389	52	11426											
ACSM4	341392	broad.mit.edu	37	chr12	7456944	7456944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccatgaagatttttttccGctaccagacatttagattca	13	14	5	9	1	1	4	1	1	0	3	2	4	2	4	3	0	2	1	3	0	4	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:7456944G>A	uc001qsx.1	+	0	17	c.17G>A	c.(16-18)cGc>cAc	p.R6H		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	6					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						ATTTTTTTCCGCTACCAGACA	0.468													A	7456944	G	A	7456944	3	1	164	1	0	0	0	0	1	0	0	0	186	1087	38	1	19	1	ACSM4	12	7456944	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		7456944	126394951	53	11427											
SLCO1B3	28234	broad.mit.edu	37	chr12	21036410	21036410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagaacagaaattactcagCacacttgggtgaatgcccaa	15	7	8	11	0	1	3	1	1	0	2	1	3	1	3	2	1	4	1	2	1	5	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21036410C>T	uc010sil.2	+	10	1621	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	SLCO1B3_uc001rek.3_Missense_Mutation_p.A519V|SLCO1B3_uc001rel.3_Missense_Mutation_p.A519V|SLCO1B3_uc010sim.2_Intron			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	519					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AATTACTCAGCACACTTGGGT	0.338													T	21036410	C	T	21036410	3	4	164	1	0	0	0	0	1	0	0	0	14818	710	25	2	1598	2	SLCO1B3	12	21036410	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	13579466	21036410	112815485	54	11428											
ABCC9	10060	broad.mit.edu	37	chr12	21997448	21997448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattagtatcagctgaaaagCgattgagaatcagtcccagg	14	10	10	7	1	2	2	2	2	0	1	3	4	3	2	1	1	2	2	1	1	6	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:21997448C>T	uc001rfh.3	-	25	3304	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H	ABCC9_uc001rfi.1_Missense_Mutation_p.R1095H	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1095	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AGCTGAAAAGCGATTGAGAAT	0.353													T	21997448	C	T	21997448	3	4	164	1	0	0	0	0	1	0	0	0	59	768	27	1	1559	1	ABCC9	12	21997448	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	961038	21997448	111854447	55	11429											
STK38L	23012	broad.mit.edu	37	chr12	27467499	27467499	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaacacagttctacAtttcagagactgttctggca	14	10	9	8	0	3	2	1	0	2	2	3	4	3	3	0	2	2	3	0	2	3	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:27467499A>G	uc001rhr.3	+	6	779	c.580A>G	c.(580-582)Att>Gtt	p.I194V	STK38L_uc010sjm.2_Missense_Mutation_p.I101V|STK38L_uc010sjn.2_5'UTR	NM_015000	NP_055815	Q9Y2H1	ST38L_HUMAN	Homo sapiens serine/threonine kinase 38 like (STK38L), mRNA.	194	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					ACAGTTCTACATTTCAGAGAC	0.378													G	27467499	A	G	27467499	3	3	164	1	0	0	0	0	1	0	0	0	15400	217	8	3	602	3	STK38L	12	27467499	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	5470051	27467499	106384396	56	11430											
CACNB3	784	broad.mit.edu	37	chr12	49218455	49218455	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccctttcttctcaggagAtctgggaacccttccagcct	6	12	7	16	0	3	1	1	0	3	1	6	3	5	2	5	2	2	0	5	2	1	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr12:49218455A>G	uc001rsl.2	+	4	870	c.411A>G	c.(409-411)agA>agG	p.R137R	CACNB3_uc010slx.2_Silent_p.R124R|CACNB3_uc010sly.2_Silent_p.R124R|CACNB3_uc010slz.2_Silent_p.R136R|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Silent_p.R96R	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	137					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	TTCTCAGGAGATCTGGGAACC	0.483													G	49218455	A	G	49218455	2	3	164	1	0	0	0	0	0	0	0	1	2580	330	12	3		3	CACNB3	12	49218455	Silent	SNP	A	TCGA-19-5951-01A-11D-1696-08	21750956	49218455	84633440	57	11431											
RNF17	56163	broad.mit.edu	37	chr13	25444863	25444863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcgcttcctcctctgaCggattttagaacaggtatac	10	11	10	10	2	1	3	0	1	1	2	3	4	3	4	2	3	2	2	2	3	4	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:25444863C>T	uc001upr.3	+	31	4474	c.4433C>T	c.(4432-4434)aCg>aTg	p.T1478M	RNF17_uc010tde.2_Missense_Mutation_p.T1474M|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.T1417M|RNF17_uc010aac.3_Missense_Mutation_p.T670M|RNF17_uc010aad.3_Missense_Mutation_p.T488M	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1478					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CCTCCTCTGACGGATTTTAGA	0.423													T	25444863	C	T	25444863	3	4	164	1	0	0	0	0	1	0	0	0	13552	536	19	1	4559	1	RNF17	13	25444863	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		25444863	89725015	58	11432											
PCDH20	64881	broad.mit.edu	37	chr13	61985634	61985634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatttgtggttctttctcCtctatattaatctctggttc	6	20	7	8	0	4	1	0	0	4	1	7	2	4	1	1	2	0	2	1	2	3	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr13:61985634C>T	uc001vid.4	-	1	2962	c.2598G>A	c.(2596-2598)gaG>gaA	p.E866E	PCDH20_uc010thj.2_Silent_p.E866E	NM_022843	NP_073754	Q8N6Y1	PCD20_HUMAN	Homo sapiens protocadherin 20 (PCDH20), mRNA.	839					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTTCTTTCTCCTCTATATTAA	0.393													T	61985634	C	T	61985634	2	4	164	1	0	0	0	0	0	0	0	1	11591	680	24	2		2	PCDH20	13	61985634	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	36540771	61985634	53184244	59	11433											
OR4K17	390436	broad.mit.edu	37	chr14	20586156	20586156	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccatttgctgtgaacttGcccttttgtggtcccaatgt	7	16	8	10	0	0	1	0	1	0	0	1	1	1	1	3	1	4	1	3	1	3	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:20586156G>A	uc001vwo.1	+	0	591	c.591G>A	c.(589-591)ttG>ttA	p.L197L		NM_001004715	NP_001004715	Q8NGC6	OR4KH_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 17 (OR4K17), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTGTGAACTTGCCCTTTTGTG	0.428													A	20586156	G	A	20586156	2	1	164	1	0	0	0	0	0	0	0	1	11147	1310	46	2		2	OR4K17	14	20586156	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		20586156	86763384	60	11434											
CLEC14A	161198	broad.mit.edu	37	chr14	38724256	38724256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctctcccagcttctcGtcgaccctgattggccatgt	4	13	10	14	2	2	1	0	1	2	0	6	2	3	1	3	2	1	1	3	2	0	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:38724256G>T	uc001wum.1	-	0	1319	c.972C>A	c.(970-972)gaC>gaA	p.D324E		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	324						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCAGCTTCTCGTCGACCCTGA	0.602													T	38724256	G	T	38724256	3	4	164	1	0	0	0	0	1	0	0	0	3530	1136	40	4	504	4	CLEC14A	14	38724256	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	18138100	38724256	68625284	61	11435											
PLEKHG3	26030	broad.mit.edu	37	chr14	65208951	65208951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggccccactgcaccccCgcatcgtgcagctctcccac	5	7	9	20	2	1	0	0	0	1	0	3	0	1	0	5	2	3	4	5	2	0	0	rs150120531	byFrequency	TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:65208951C>G	uc001xhp.2	+	15	3118	c.3079C>G	c.(3079-3081)Cgc>Ggc	p.R1027G	PLEKHG3_uc001xhn.1_Missense_Mutation_p.R850G|PLEKHG3_uc001xho.1_Missense_Mutation_p.R906G|PLEKHG3_uc010aqh.1_Missense_Mutation_p.R448G|PLEKHG3_uc001xhq.1_Missense_Mutation_p.R411G	NM_015549	NP_056364	A1L390	PKHG3_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 3 (PLEKHG3), mRNA.	906					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P1027Q(1)		endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACTGCACCCCCGCATCGTGCA	0.662													G	65208951	C	G	65208951	3	3	164	1	0	0	0	0	1	0	0	0	12147	652	23	4	2598	4	PLEKHG3	14	65208951	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	26484695	65208951	42140589	62	11436											
AK7	122481	broad.mit.edu	37	chr14	96864516	96864516	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaagcttcctcaaccaaAgtgaaggaaggcacattcca	14	7	9	11	0	1	1	1	1	0	0	3	3	3	3	3	3	2	2	3	3	5	2	rs17853407		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:96864516A>T	uc001yfn.2	+	1	254	c.210A>T	c.(208-210)aaA>aaT	p.K70N	AK7_uc001yfm.1_Missense_Mutation_p.K70N	NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	70					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTCAACCAAAGTGAAGGAAG	0.507													T	96864516	A	T	96864516	3	4	164	1	0	0	0	0	1	0	0	0	444	69	3	5	216	5	AK7	14	96864516	Missense_Mutation	SNP	A	TCGA-19-5951-01A-11D-1696-08	31655565	96864516	10485024	63	11437											
JAG2	3714	broad.mit.edu	37	chr14	105609273	105609273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcctcgtccgccctgCgcggcggcggcgtgaagttc	3	6	16	16	8	0	1	0	1	0	0	3	1	1	1	3	3	2	2	3	3	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr14:105609273C>T	uc001yqg.3	-	25	3880	c.3476G>A	c.(3475-3477)cGc>cAc	p.R1159H	JAG2_uc001yqf.3_Missense_Mutation_p.R563H|JAG2_uc001yqh.3_Missense_Mutation_p.R1121H	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1159					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gtccgccctgcgcggcggcgg	0.721													T	105609273	C	T	105609273	3	4	164	1	0	0	0	0	1	0	0	0	7993	768	27	1	244	1	JAG2	14	105609273	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	8744757	105609273	1740267	64	11438											
PIF1	80119	broad.mit.edu	37	chr15	65110455	65110455	+	Splice_Site	DEL	C	C	-																															ccacctcctcccaacacttaCctctcccttctgcctcgaac																										TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:65110455delC	uc002ant.2	-	10	1594	c.1528_splice	c.e10+1	p.G510_splice	PIF1_uc002anr.2_Splice_Site_p.G58_splice|PIF1_uc002ans.2_Splice_Site_p.G201_splice|PIF1_uc010uiq.1_Splice_Site_p.G510_splice	NM_025049	NP_079325	Q9H611	PIF1_HUMAN	Homo sapiens PIF1 5'-to-3' DNA helicase homolog (S. cerevisiae) (PIF1), mRNA.	510	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CCAACACTTACCTCTCCCTTC	0.582													-	65110455	C	-	65110455	8	5	164	1	0	1	0	1	0	0	1	0	11960	521	18	0	412	0	PIF1	15	65110455	Splice_Site	DEL	C	TCGA-19-5951-01A-11D-1696-08		65110455	37420937	65	11439											
LRRK1	79705	broad.mit.edu	37	chr15	101595366	101595366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgagggcgccctaggcGtggagggcactcctggctac	6	7	15	13	2	0	1	0	1	0	0	2	2	2	2	3	5	1	2	3	5	2	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr15:101595366G>A	uc002bwr.3	+	26	4589	c.4270G>A	c.(4270-4272)Gtg>Atg	p.V1424M	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bws.3_Non-coding_Transcript	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	1424	Protein kinase.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCCCTAGGCGTGGAGGGCAC	0.567													A	101595366	G	A	101595366	3	1	164	1	0	0	0	0	1	0	0	0	9102	1145	40	1	4372	1	LRRK1	15	101595366	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	36484911	101595366	936026	66	11440											
SLC5A2	6524	broad.mit.edu	37	chr16	31500623	31500623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggcctcctcaccctcacGgtctccctgtgcaccgcgcc	3	9	8	21	3	4	0	2	0	2	0	6	0	5	0	6	2	1	1	6	2	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:31500623G>A	uc002ecf.4	+	11	1648	c.1629G>A	c.(1627-1629)acG>acA	p.T543T	SLC5A2_uc010car.3_Non-coding_Transcript|C16orf58_uc002ecg.3_Non-coding_Transcript	NM_003041	NP_003032	P31639	SC5A2_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 2 (SLC5A2), mRNA.	543					carbohydrate metabolic process	integral to membrane	low-affinity glucose:sodium symporter activity	p.L542F(1)		endometrium(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	25						TCACCCTCACGGTCTCCCTGT	0.637													A	31500623	G	A	31500623	2	1	164	1	0	0	0	0	0	0	0	1	14759	1103	39	1		1	SLC5A2	16	31500623	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		31500623	58854130	67	11441											
NOL3	8996	broad.mit.edu	37	chr16	67208819	67208819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacccagagcccgagccCgacttcgaggaaagggacga	11	2	14	14	5	0	1	0	0	0	1	1	8	0	4	4	3	2	0	4	3	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:67208819C>T	uc010vjd.2	+	2	774	c.581C>T	c.(580-582)cCg>cTg	p.P194L	NOL3_uc010vjc.2_Silent_p.P197P|NOL3_uc002erp.3_Silent_p.P197P	NM_001185057	NP_001171986	O60936	NOL3_HUMAN	Homo sapiens nucleolar protein 3 (apoptosis repressor with CARD domain) (NOL3), transcript variant 3, mRNA.	194					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		agcccgagcccgacttcgaGG	0.672													T	67208819	C	T	67208819	3	4	164	1	0	0	0	0	1	0	0	0	10599	652	23	1	597	1	NOL3	16	67208819	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	35708196	67208819	23145934	68	11442											
FOXL1	2300	broad.mit.edu	37	chr16	86613224	86613224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctgggtgcctcgctcctgGccgcctcctccagcctccgt	1	10	11	19	3	1	0	0	0	1	0	6	0	5	0	8	2	2	1	8	2	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr16:86613224G>A	uc002fjr.3	+	0	1110	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_005250	NP_005241	Q12952	FOXL1_HUMAN	Homo sapiens forkhead box L1 (FOXL1), mRNA.	299					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						CTCGCTCCTGGCCGCCTCCTC	0.672													A	86613224	G	A	86613224	3	1	164	1	0	0	0	0	1	0	0	0	6067	1203	42	2	897	2	FOXL1	16	86613224	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	19404405	86613224	3741529	69	11443											
TRPV1	7442	broad.mit.edu	37	chr17	3493599	3493599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaagaagtccccatgggccGcagcctggacgtctgctccg	8	7	12	14	3	1	1	0	0	1	1	3	2	3	2	5	2	2	2	5	2	3	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr17:3493599G>A	uc010vro.2	-	3	725	c.692C>T	c.(691-693)gCg>gTg	p.A231V	TRPV1_uc010vrp.2_Missense_Mutation_p.A231V|TRPV1_uc010vrq.2_Missense_Mutation_p.A229V|TRPV1_uc010vrr.2_Missense_Mutation_p.A231V|TRPV1_uc010vrs.2_Missense_Mutation_p.A231V|TRPV1_uc010vrt.2_Missense_Mutation_p.A231V|TRPV1_uc010vru.2_Missense_Mutation_p.A231V	NM_080706	NP_542437	Q8NER1	TRPV1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 1 (TRPV1), transcript variant 3, mRNA.	231					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCCATGGGCCGCAGCCTGGAC	0.572													A	3493599	G	A	3493599	3	1	164	1	0	0	0	0	1	0	0	0	16696	1087	38	1	1548	1	TRPV1	17	3493599	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08		3493599	77701611	70	11444											
POTEC	388468	broad.mit.edu	37	chr18	14542809	14542809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcccacgttgctcttgcCgctccccctgcagcagggga	5	7	12	17	3	1	0	0	0	1	0	2	1	2	1	4	2	5	5	4	2	0	2	rs113041483		TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr18:14542809C>T	uc010dln.3	-	0	791	c.337G>A	c.(337-339)Ggc>Agc	p.G113S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	113										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TTGCTCTTGCCGCTCCCCCTG	0.597													T	14542809	C	T	14542809	3	4	164	1	0	0	0	0	1	0	0	0	12339	652	23	1	1335	1	POTEC	18	14542809	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		14542809	63534439	71	11445											
ABCA7	10347	broad.mit.edu	37	chr19	1056425	1056425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcccccaggcccggccCgccacgcccacagcatcacc	7	2	8	24	3	1	0	1	0	0	0	1	0	1	0	8	2	2	1	8	2	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:1056425C>T	uc002lqw.4	+	32	4744	c.4513C>T	c.(4513-4515)Cgc>Tgc	p.R1505C	ABCA7_uc002lqy.3_5'Flank|ABCA7_uc010dsc.3_5'Flank	NM_019112	NP_061985	Q8IZY2	ABCA7_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 7 (ABCA7), mRNA.	1505					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.A1504V(1)|p.R1505L(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		AGGCCCGGCCCGCCACGCCCA	0.612													T	1056425	C	T	1056425	3	4	164	1	0	0	0	0	1	0	0	0	37	652	23	1	4639	1	ABCA7	19	1056425	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08		1056425	58072558	72	11446											
EMR1	2015	broad.mit.edu	37	chr19	6906478	6906478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaggaagatgtgataccCgataataagcagatccagca	16	8	10	7	1	0	3	0	1	0	2	1	5	1	4	2	1	3	3	2	1	5	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:6906478C>T	uc002mfw.3	+	8	1022	c.984C>T	c.(982-984)ccC>ccT	p.P328P	EMR1_uc010dvc.3_Silent_p.P328P|EMR1_uc010dvb.3_Silent_p.P276P|EMR1_uc010xji.2_Silent_p.P187P|EMR1_uc010xjj.2_Silent_p.P151P	NM_001974	NP_001965	Q14246	EMR1_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 1 (EMR1), transcript variant 1, mRNA.	328	Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATGTGATACCCGATAATAAGC	0.388													T	6906478	C	T	6906478	2	4	164	1	0	0	0	0	0	0	0	1	5145	639	23	1		1	EMR1	19	6906478	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	5850053	6906478	52222505	73	11447											
RAVER1	125950	broad.mit.edu	37	chr19	10434234	10434234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctgcccatcctggccGcacgccagctgccggaggaa	7	6	12	16	3	1	0	1	0	0	0	2	2	2	2	5	3	4	3	5	3	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:10434234G>A	uc002moa.3	-	3	896	c.816C>T	c.(814-816)tgC>tgT	p.C272C		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667													A	10434234	G	A	10434234	2	1	164	1	0	0	0	0	0	0	0	1	13182	1079	38	1		1	RAVER1	19	10434234	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08	3527756	10434234	48694749	74	11448											
ZNF676	163223	broad.mit.edu	37	chr19	22364159	22364159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaacatttatgaaagacGtttgcatatttgccacattg	12	16	7	6	1	0	3	0	2	0	1	0	3	0	3	1	0	3	2	1	0	4	7			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:22364159G>C	uc002nqs.1	-	2	678	c.360C>G	c.(358-360)aaC>aaG	p.N120K		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TATGAAAGACGTTTGCATATT	0.328													C	22364159	G	C	22364159	3	2	164	1	0	0	0	0	1	0	0	0	18184	1136	40	4	1410	4	ZNF676	19	22364159	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	11929925	22364159	36764824	75	11449											
PSG7	5676	broad.mit.edu	37	chr19	43441294	43441294	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagaatcttcctgagcaCggctgtcagctgtgctgtcc	7	11	10	13	1	2	2	1	1	1	1	5	2	5	2	3	1	3	4	3	1	1	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:43441294C>T	uc002ovl.4	-	0					PSG3_uc002ouf.3_5'Flank|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_5'UTR	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.						female pregnancy	extracellular region							Prostate(69;0.00682)				TTCCTGAGCACGGCTGTCAGC	0.617													T	43441294	C	T	43441294	1	4	164	1	0	0	0	0	0	0	0	0	12745	551	19	1		1	PSG7	19	43441294	Translation_Start_Site	SNP	C	TCGA-19-5951-01A-11D-1696-08	21077135	43441294	15687689	76	11450											
C5AR1	728	broad.mit.edu	37	chr19	47823567	47823567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtaccgggtggtccGggaggagtactttccaccaa	7	10	12	12	2	0	0	0	0	0	0	3	2	3	2	5	4	2	2	5	4	3	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:47823567G>A	uc002pgj.1	+	1	582	c.533G>A	c.(532-534)cGg>cAg	p.R178Q		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	178					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CGGGTGGTCCGGGAGGAGTAC	0.637													A	47823567	G	A	47823567	3	1	164	1	0	0	0	0	1	0	0	0	2303	1116	39	1	538	1	C5AR1	19	47823567	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	4382273	47823567	11305416	77	11451											
POLD1	5424	broad.mit.edu	37	chr19	50918754	50918754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcggacctgctgtgcaaccGcatcgatatctcccagctgg	7	9	10	15	3	1	0	0	0	1	0	4	2	1	1	3	2	4	4	3	2	2	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr19:50918754G>A	uc010eny.3	+	19	2703	c.2702G>A	c.(2701-2703)cGc>cAc	p.R901H	POLD1_uc002psb.4_Missense_Mutation_p.R875H|POLD1_uc002psc.4_Missense_Mutation_p.R875H|POLD1_uc010enx.3_Non-coding_Transcript	NM_002691	NP_002682	P28340	DPOD1_HUMAN	Homo sapiens polymerase (DNA directed), delta 1, catalytic subunit 125kDa (POLD1), mRNA.	875					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CTGTGCAACCGCATCGATATC	0.657								DNA polymerases (catalytic subunits)					A	50918754	G	A	50918754	3	1	164	1	0	0	0	0	1	0	0	0	12267	1087	38	1	2702	1	POLD1	19	50918754	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	3095187	50918754	8210229	78	11452											
SNX5	27131	broad.mit.edu	37	chr20	17929612	17929612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctgatgaaactcgaccCtctactttctatatagaaaa	14	13	4	10	1	4	3	1	2	3	1	5	4	4	3	1	0	2	0	1	0	7	5			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:17929612C>T	uc002wqc.3	-	9	926	c.840G>A	c.(838-840)gaG>gaA	p.E280E	SNX5_uc002wqb.3_Non-coding_Transcript|SNX5_uc002wqd.3_Silent_p.E280E|SNX5_uc002wqe.3_Silent_p.E175E|SNX5_uc010zrt.1_Silent_p.E280E	NM_014426	NP_689413	Q9Y5X3	SNX5_HUMAN	Homo sapiens sorting nexin 5 (SNX5), transcript variant 2, mRNA.	280	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding	p.E280D(2)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						AAACTCGACCCTCTACTTTCT	0.383													T	17929612	C	T	17929612	2	4	164	1	0	0	0	0	0	0	0	1	14999	680	24	2		2	SNX5	20	17929612	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		17929612	45095908	79	11453											
NCOA3	8202	broad.mit.edu	37	chr20	46264906	46264906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcaaatagcagagatcaCctcagtgacaaagaaagtaa	19	6	8	8	0	3	3	3	1	0	2	3	4	3	3	1	0	1	2	1	0	5	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr20:46264906C>T	uc002xtk.3	+	11	2037	c.1776C>T	c.(1774-1776)caC>caT	p.H592H	NCOA3_uc002xtl.3_Silent_p.H592H|NCOA3_uc002xtn.3_Silent_p.H592H|NCOA3_uc010ght.2_Silent_p.H602H|NCOA3_uc002xtm.3_Silent_p.H592H|NCOA3_uc010zyc.2_Silent_p.H387H	NM_181659	NP_858045	Q9Y6Q9	NCOA3_HUMAN	Homo sapiens nuclear receptor coactivator 3 (NCOA3), transcript variant 1, mRNA.	592	Ser-rich.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCAGAGATCACCTCAGTGACA	0.423													T	46264906	C	T	46264906	2	4	164	1	0	0	0	0	0	0	0	1	10306	506	18	2		2	NCOA3	20	46264906	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08	28335294	46264906	16760614	80	11454											
DSCAM	1826	broad.mit.edu	37	chr21	41455893	41455893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggtgatggaggaagaCgtggtcttggagactgtaag	12	8	18	3	1	1	3	0	1	1	2	1	7	1	5	0	5	0	1	0	5	3	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chr21:41455893C>T	uc002yyq.1	-	23	4625	c.4173G>A	c.(4171-4173)acG>acA	p.T1391T	DSCAM_uc002yyr.1_Non-coding_Transcript	NM_001389	NP_001380	O60469	DSCAM_HUMAN	Homo sapiens Down syndrome cell adhesion molecule (DSCAM), transcript variant 1, mRNA.	1391	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGAGGAAGACGTGGTCTTGG	0.433													T	41455893	C	T	41455893	2	4	164	1	0	0	0	0	0	0	0	1	4807	523	19	1		1	DSCAM	21	41455893	Silent	SNP	C	TCGA-19-5951-01A-11D-1696-08		41455893	6674002	81	11455											
ARSH	347527	broad.mit.edu	37	chrX	2931164	2931164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcttcccaccaatgaaacGacttttgccaagctgctgca	10	10	8	13	1	1	1	0	1	1	0	2	2	2	1	3	1	5	3	3	1	3	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:2931164G>A	uc011mhj.2	+	2	291	c.291G>A	c.(289-291)acG>acA	p.T97T		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	97						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				CCAATGAAACGACTTTTGCCA	0.552													A	2931164	G	A	2931164	2	1	164	1	0	0	0	0	0	0	0	1	998	1045	37	1		1	ARSH	23	2931164	Silent	SNP	G	TCGA-19-5951-01A-11D-1696-08		2931164	152339396	82	11456											
ELK1	2002	broad.mit.edu	37	chrX	47496310	47496310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggatgtgcacctgggcgCtgccactggatggaaactgg	9	7	16	9	1	0	0	0	0	0	0	0	3	0	3	2	5	3	2	2	5	2	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47496310C>T	uc004dik.4	-	6	1527	c.1205G>A	c.(1204-1206)aGc>aAc	p.S402N	ELK1_uc010nhv.3_Missense_Mutation_p.S402N|ELK1_uc010nhw.3_Missense_Mutation_p.S292N|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.	402					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						CACCTGGGCGCTGCCACTGGA	0.597													T	47496310	C	T	47496310	3	4	164	1	0	0	0	0	1	0	0	0	5100	797	28	2	85	2	ELK1	23	47496310	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	44565146	47496310	107774250	83	11457											
ZNF182	7569	broad.mit.edu	37	chrX	47842806	47842806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctacatcttcaaatgtcacTagcccctgtaatggtacatt	11	13	6	11	0	3	0	2	0	1	0	3	0	3	0	2	1	3	3	2	1	5	6			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:47842806T>C	uc004dir.3	-	4	424	c.78A>G	c.(76-78)ctA>ctG	p.L26L	ZNF182_uc004dis.3_Silent_p.L7L|ZNF182_uc004dit.3_Silent_p.L26L|ZNF630_uc010nhz.1_Non-coding_Transcript	NM_006962	NP_008893	P17025	ZN182_HUMAN	Homo sapiens zinc finger protein 182 (ZNF182), transcript variant 1, mRNA.	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						CAAATGTCACTAGCCCCTGTA	0.463													C	47842806	T	C	47842806	2	2	164	1	0	0	0	0	0	0	0	1	17851	1509	53	3		3	ZNF182	23	47842806	Silent	SNP	T	TCGA-19-5951-01A-11D-1696-08	346496	47842806	107427754	84	11458											
WAS	7454	broad.mit.edu	37	chrX	48545194	48545194	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgggtccgctctcccTggggctggcgacagtggaca	5	8	15	13	2	1	0	0	0	1	0	4	2	3	1	3	5	0	2	3	5	0	0			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:48545194T>G	uc004dkm.4	+	6	641	c.584T>G	c.(583-585)cTg>cGg	p.L195R		NM_000377	NP_000368	P42768	WASP_HUMAN	Homo sapiens Wiskott-Aldrich syndrome (eczema-thrombocytopenia) (WAS), mRNA.	195					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CCGCTCTCCCTGGGGCTGGCG	0.582			"Mis, N, F, S"			lymphoma							G	48545194	T	G	48545194	3	3	164	1	0	0	0	0	1	0	0	0	17353	1580	55	5	610	5	WAS	23	48545194	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	702388	48545194	106725366	85	11459											
SHROOM4	57477	broad.mit.edu	37	chrX	50377938	50377938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagtgggttggaatccaCgctggaagctctgtcacagg	9	10	14	8	1	2	1	1	1	1	0	3	3	3	3	1	4	1	3	1	4	2	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:50377938C>T	uc004dpe.2	-	3	1161	c.1135G>A	c.(1135-1137)Gtg>Atg	p.V379M	SHROOM4_uc004dpd.3_Non-coding_Transcript|SHROOM4_uc004dpf.1_Missense_Mutation_p.V263M	NM_020717	NP_065768	Q9ULL8	SHRM4_HUMAN	Homo sapiens shroom family member 4 (SHROOM4), transcript variant 1, mRNA.	379					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTGGAATCCACGCTGGAAGCT	0.542													T	50377938	C	T	50377938	3	4	164	1	0	0	0	0	1	0	0	0	14390	536	19	1	3370	1	SHROOM4	23	50377938	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	1832744	50377938	104892622	86	11460											
ERCC6L	54821	broad.mit.edu	37	chrX	71425657	71425657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacaaaccctgctctggaaTtaggtgcagagccacacaag	13	6	10	12	0	1	1	0	0	1	1	1	2	1	2	2	2	4	3	2	2	4	1			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:71425657T>C	uc004eaq.1	-	1	3057	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	PIN4_uc004eao.2_Intron|ERCC6L_uc004eap.1_Missense_Mutation_p.N864S	NM_017669	NP_060139	Q2NKX8	ERC6L_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6-like (ERCC6L), mRNA.	987					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGCTCTGGAATTAGGTGCAGA	0.393													C	71425657	T	C	71425657	3	2	164	1	0	0	0	0	1	0	0	0	5259	1493	52	3	796	3	ERCC6L	23	71425657	Missense_Mutation	SNP	T	TCGA-19-5951-01A-11D-1696-08	21047719	71425657	83844903	87	11461											
AMOT	154796	broad.mit.edu	37	chrX	112025789	112025789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctccatgtcaaggcaaCgcttattggccatcaagatt	10	11	8	12	1	2	1	2	0	0	1	3	1	3	1	3	2	2	2	3	2	4	3			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:112025789C>A	uc004epr.3	-	7	2237	c.2219G>T	c.(2218-2220)cGt>cTt	p.R740L	AMOT_uc004eps.3_Missense_Mutation_p.R331L|AMOT_uc011mtc.1_5'Flank|MIR4329_uc022ccu.1_5'Flank	NM_001113490	NP_573572	Q4VCS5	AMOT_HUMAN	Homo sapiens angiomotin (AMOT), transcript variant 1, mRNA.	740					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						GTCAAGGCAACGCTTATTGGC	0.453													A	112025789	C	A	112025789	3	1	164	1	0	0	0	0	1	0	0	0	582	536	19	4	1051	4	AMOT	23	112025789	Missense_Mutation	SNP	C	TCGA-19-5951-01A-11D-1696-08	40600132	112025789	43244771	88	11462											
FAM70A	55026	broad.mit.edu	37	chrX	119410875	119410875	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgacatcgatgtattcGtagtacccaccagtgatctc	9	12	8	12	2	1	2	0	2	1	0	4	3	1	2	2	0	2	4	2	0	3	4			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:119410875G>T	uc004eso.4	-	7	839	c.612C>A	c.(610-612)taC>taA	p.Y204*	FAM70A_uc004esp.4_Nonsense_Mutation_p.Y180*|FAM70A_uc010nqo.3_Intron	NM_017938	NP_060408	Q5JRV8	FA70A_HUMAN	Homo sapiens family with sequence similarity 70, member A (FAM70A), transcript variant 1, mRNA.	204						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(7)|lung(4)|prostate(2)	19						CGATGTATTCGTAGTACCCAC	0.582													T	119410875	G	T	119410875	4	4	164	1	0	0	0	0	0	1	0	0	5655	1140	40	4	449	4	FAM70A	23	119410875	Nonsense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	7385086	119410875	35859685	89	11463											
GDI1	2664	broad.mit.edu	37	chrX	153666947	153666947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaacccctactacgggggcGagagctcctccatcacaccc	9	5	10	17	2	1	1	1	0	0	1	3	3	3	2	5	3	4	1	5	3	3	2			TCGA-19-5951-01A-11D-1696-08	TCGA-19-5951-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57cf584c-8c95-42ec-9cb0-707228b70010	0de1bd85-87e3-4189-9c82-206b20e4428f	g.chrX:153666947G>A	uc004fli.4	+	1	466	c.124G>A	c.(124-126)Gag>Aag	p.E42K	GDI1_uc011mzo.1_Missense_Mutation_p.E42K	NM_001493	NP_001484	P31150	GDIA_HUMAN	Homo sapiens GDP dissociation inhibitor 1 (GDI1), mRNA.	42					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACGGGGGCGAGAGCTCCTC	0.617													A	153666947	G	A	153666947	3	1	164	1	0	0	0	0	1	0	0	0	6376	1059	37	1	130	1	GDI1	23	153666947	Missense_Mutation	SNP	G	TCGA-19-5951-01A-11D-1696-08	34256072	153666947	1603613	90	11464											
NBPF1	55672	broad.mit.edu	37	chr1	16893838	16893838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcatccagcagctccCtgctgagcctggaacagtgg	7	10	10	14	0	1	1	1	1	1	0	4	2	3	2	3	2	5	3	3	2	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:16893838C>T	uc009vos.1	-	24	3563	c.2675G>A	c.(2674-2676)aGg>aAg	p.R892K	NBPF1_uc009vot.1_Missense_Mutation_p.R350K|NBPF1_uc001ayz.1_Missense_Mutation_p.R350K|NBPF1_uc010oce.1_Missense_Mutation_p.R621K	NM_017940	NP_060410	Q3BBV0	NBPF1_HUMAN	Homo sapiens neuroblastoma breakpoint family, member 1 (NBPF1), mRNA.	892	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAGCAGCTCCCTGCTGAGCCT	0.473													T	16893838	C	T	16893838	3	4	165	1	0	0	0	0	1	0	0	0	10268	681	24	2	769	2	NBPF1	1	16893838	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		16893838	232356783	1	11465											
PLK3	1263	broad.mit.edu	37	chr1	45271002	45271002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgctgctgcagtgggTcaagacggatcaggctctcc	6	9	13	13	1	3	1	2	0	1	1	4	2	3	2	2	3	3	4	2	3	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:45271002T>C	uc001cmn.3	+	13	1800	c.1700T>C	c.(1699-1701)gTc>gCc	p.V567A		NM_004073	NP_004064	Q9H4B4	PLK3_HUMAN	Homo sapiens polo-like kinase 3 (PLK3), mRNA.	567	POLO box 2.					membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTGGGTCAAGACGGAT	0.602													C	45271002	T	C	45271002	3	2	165	1	0	0	0	0	1	0	0	0	12174	1667	58	3	1754	3	PLK3	1	45271002	Missense_Mutation	SNP	T	TCGA-19-5952-01A-11D-1696-08	28377164	45271002	203979619	2	11466											
LGALS8	3964	broad.mit.edu	37	chr1	236700824	236700824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtttgttggcaccattcctGatcagctggatcctggaact	7	13	10	11	1	1	1	1	1	0	0	3	3	3	3	3	3	2	4	3	3	1	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr1:236700824G>A	uc001hxz.2	+	3	454	c.73G>A	c.(73-75)Gat>Aat	p.D25N	LGALS8_uc001hxw.2_Missense_Mutation_p.D25N|LGALS8_uc001hxy.2_Missense_Mutation_p.D25N|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.D25N|LGALS8_uc001hyc.2_Missense_Mutation_p.D25N	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	25	Galectin 1.					cytoplasm|extracellular space	sugar binding	p.P24P(1)		kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CACCATTCCTGATCAGCTGGA	0.393													A	236700824	G	A	236700824	3	1	165	1	0	0	0	0	1	0	0	0	8807	1290	45	2	79	2	LGALS8	1	236700824	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	191429822	236700824	12549797	3	11467											
GPR17	2840	broad.mit.edu	37	chr2	128408657	128408657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttctacctcaacatgtaCgccagcatctacttcctcac	9	12	3	17	1	5	0	2	0	3	0	6	0	6	0	3	0	5	2	3	0	4	5	rs61749508		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:128408657C>T	uc010yzn.2	+	3	1043	c.432C>T	c.(430-432)taC>taT	p.Y144Y	LIMS2_uc002tow.3_5'Flank|LIMS2_uc002tox.3_Intron|LIMS2_uc010fmb.3_Intron|LIMS2_uc002toy.3_Intron|LIMS2_uc002tpa.3_Intron|LIMS2_uc002toz.3_Intron|LIMS2_uc010yzm.2_Intron|LIMS2_uc002tpb.3_Intron|GPR17_uc002tpc.3_Silent_p.Y144Y|GPR17_uc010yzo.2_Silent_p.Y116Y|GPR17_uc002tpd.3_Silent_p.Y116Y	NM_001161415	NP_001154889	Q13304	GPR17_HUMAN	Homo sapiens G protein-coupled receptor 17 (GPR17), transcript variant 1, mRNA.	144						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		TCAACATGTACGCCAGCATCT	0.602													T	128408657	C	T	128408657	2	4	165	1	0	0	0	0	0	0	0	1	6721	547	19	1		1	GPR17	2	128408657	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		128408657	114790716	4	11468											
TTN	7273	broad.mit.edu	37	chr2	179548796	179548796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctgggacagctctcttCggttcctctggcactttaaa	6	15	8	12	1	4	0	0	0	4	0	7	1	5	1	1	3	1	3	1	3	2	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr2:179548796C>T	uc021vsy.1	-	129	29229	c.29004G>A	c.(29002-29004)ccG>ccA	p.P9668P	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Silent_p.P6329P|TTN_uc010fre.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	10595	Ig-like 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCTCTCTTCGGTTCCTCTG	0.368													T	179548796	C	T	179548796	2	4	165	1	0	0	0	0	0	0	0	1	16837	871	31	1		1	TTN	2	179548796	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	51140139	179548796	63650577	5	11469											
CX3CR1	1524	broad.mit.edu	37	chr3	39307959	39307959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcctcagccaaatcatcGtactcaaagttttctgtcac	11	11	6	13	1	5	0	4	0	1	0	6	0	5	0	2	1	2	2	2	1	3	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:39307959G>A	uc021wwc.1	-	1	178	c.138C>T	c.(136-138)taC>taT	p.Y46Y	CX3CR1_uc021wwa.1_Silent_p.Y14Y|CX3CR1_uc021wwb.1_Silent_p.Y14Y|CX3CR1_uc003cjl.3_Silent_p.Y14Y|CX3CR1_uc021wwd.1_Silent_p.Y14Y	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	14					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CCAAATCATCGTACTCAAAGT	0.443													A	39307959	G	A	39307959	2	1	165	1	0	0	0	0	0	0	0	1	4108	1140	40	1		1	CX3CR1	3	39307959	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		39307959	158714471	6	11470											
WDR82	80335	broad.mit.edu	37	chr3	52292683	52292683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagacatggatcttgcCatcctctgaacctaaagagg	12	10	8	11	0	2	3	0	1	2	2	4	4	4	4	4	2	2	0	4	2	3	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:52292683C>T	uc003ddl.2	-	7	1063	c.781G>A	c.(781-783)Ggc>Agc	p.G261S	WDR82_uc003ddk.2_Missense_Mutation_p.G186S	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	261					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TGGATCTTGCCATCCTCTGAA	0.438													T	52292683	C	T	52292683	3	4	165	1	0	0	0	0	1	0	0	0	17433	594	21	2	168	2	WDR82	3	52292683	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	12984724	52292683	145729747	7	11471											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:129695840G>A	uc003enc.3	+	2	1071	c.510G>A	c.(508-510)gaG>gaA	p.E170E		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(2)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642													A	129695840	G	A	129695840	2	1	165	1	0	0	0	0	0	0	0	1	16579	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	77403157	129695840	68326590	8	11472											
GFM1	85476	broad.mit.edu	37	chr3	158378683	158378683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgaggaagtatatgcCggagacatctgtgcattgtt	10	13	13	5	1	1	2	0	1	1	1	1	5	1	3	1	2	2	4	1	2	3	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr3:158378683C>T	uc003fce.3	+	9	1349	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	GFM1_uc003fcd.3_Silent_p.A414A|GFM1_uc003fcg.3_Silent_p.A345A	NM_024996	NP_079272	Q96RP9	EFGM_HUMAN	Homo sapiens G elongation factor, mitochondrial 1 (GFM1), nuclear gene encoding mitochondrial protein, mRNA.	414					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AAGTATATGCCGGAGACATCT	0.353													T	158378683	C	T	158378683	2	4	165	1	0	0	0	0	0	0	0	1	6397	639	23	1		1	GFM1	3	158378683	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	28682843	158378683	39643747	9	11473											
FGG	2266	broad.mit.edu	37	chr4	155528019	155528019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacttgtcactaggatcatCgccaaaatcaaagccatcaa	17	8	5	11	1	4	0	4	0	0	0	5	1	4	1	2	1	2	0	2	1	6	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr4:155528019C>T	uc003ioj.3	-	7	1108	c.967G>A	c.(967-969)Gat>Aat	p.D323N	FGG_uc003iog.3_Missense_Mutation_p.D323N	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	323	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	CTAGGATCATCGCCAAAATCA	0.468													T	155528019	C	T	155528019	3	4	165	1	0	0	0	0	1	0	0	0	5919	884	31	1	421	1	FGG	4	155528019	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		155528019	35626257	10	11474											
IRX4	50805	broad.mit.edu	37	chr5	1880903	1880903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcggctggtgccaGgcccccatgcgcagatcccg	5	4	16	16	4	0	1	0	0	0	1	1	1	1	1	4	5	3	3	4	5	0	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:1880903G>A	uc003jcz.2	-	2	462	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	IRX4_uc011cmf.1_5'UTR	NM_016358	NP_057442	P78413	IRX4_HUMAN	Homo sapiens iroquois homeobox 4 (IRX4), mRNA.	115					heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		GCTGGTGCCAGGCCCCCATGC	0.622													A	1880903	G	A	1880903	2	1	165	1	0	0	0	0	0	0	0	1	7904	991	35	2		2	IRX4	5	1880903	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		1880903	179034357	11	11475											
TRPC7	57113	broad.mit.edu	37	chr5	135692954	135692954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgctcctcctcgggcGtcagactggtgcccttctcg	4	9	13	15	4	2	1	1	0	1	1	6	2	4	2	3	3	2	1	3	3	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:135692954G>A	uc003lbn.2	-	1	344	c.122C>T	c.(121-123)aCg>aTg	p.T41M	TRPC7_uc010jef.2_Missense_Mutation_p.T32M|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.T41M|TRPC7_uc010jei.2_Missense_Mutation_p.T41M	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	41					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTCCTCGGGCGTCAGACTGGT	0.602													A	135692954	G	A	135692954	3	1	165	1	0	0	0	0	1	0	0	0	16685	1145	40	1	2510	1	TRPC7	5	135692954	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	133812051	135692954	45222306	12	11476											
PCDHGC5	56109	broad.mit.edu	37	chr5	140754770	140754770	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctttttcaagtgttcgatCgagactctggcctgaatggc	7	13	10	11	2	2	2	1	1	1	1	4	4	2	2	2	2	0	1	2	2	2	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:140754770C>T	uc003ljy.2	+	0	1120	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Nonsense_Mutation_p.R374*	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	377	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTTCGATCGAGACTCTGG	0.428													T	140754770	C	T	140754770	4	4	165	1	0	0	0	0	0	1	0	0	11647	876	31	1		1	PCDHGC5	5	140754770	Nonsense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	5061816	140754770	40160490	13	11477											
FBXO38	81545	broad.mit.edu	37	chr5	147807296	147807296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggatggtacgagatcCgccttttcctttaggactct	6	12	11	12	3	1	1	0	0	1	1	3	4	3	3	4	4	1	1	4	4	2	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr5:147807296C>T	uc003lpf.1	+	14	2559	c.2439C>T	c.(2437-2439)tcC>tcT	p.S813S	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	813						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACGAGATCCGCCTTTTCCT	0.567													T	147807296	C	T	147807296	2	4	165	1	0	0	0	0	0	0	0	1	5795	639	23	1		1	FBXO38	5	147807296	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	7052526	147807296	33107964	14	11478											
FAM54A	113115	broad.mit.edu	37	chr6	136554632	136554632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgaatgggtctaccgccaGgtgacctattttttaaaaaa	13	13	8	7	1	1	2	0	2	1	0	1	2	1	2	3	2	1	0	3	2	7	6			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr6:136554632G>A	uc010kgp.1	-	6	1265	c.875C>T	c.(874-876)cCt>cTt	p.P292L	FAM54A_uc003qgt.1_Missense_Mutation_p.P292L|FAM54A_uc003qgu.1_Missense_Mutation_p.P249L	NM_001099286	NP_612428	Q6P444	FA54A_HUMAN	Homo sapiens family with sequence similarity 54, member A (FAM54A), transcript variant 1, mRNA.	292										endometrium(2)|kidney(1)|large_intestine(5)|lung(1)|skin(2)	11	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00228)|OV - Ovarian serous cystadenocarcinoma(155;0.00504)		TCTACCGCCAGGTGACCtatt	0.318													A	136554632	G	A	136554632	3	1	165	1	0	0	0	0	1	0	0	0	5633	1000	35	2	290	2	FAM54A	6	136554632	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		136554632	34560435	15	11479											
SDK1	221935	broad.mit.edu	37	chr7	3991529	3991529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttttgaaccggccagggCgacggcctttcttttcatca	6	12	10	13	4	3	1	2	1	1	0	3	2	3	1	3	3	1	1	3	3	1	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:3991529C>T	uc003smx.3	+	6	1266	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCGGCCAGGGCGACGGCCTTT	0.577													T	3991529	C	T	3991529	3	4	165	1	0	0	0	0	1	0	0	0	14061	768	27	1	1153	1	SDK1	7	3991529	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		3991529	155147134	16	11480											
CALCR	799	broad.mit.edu	37	chr7	93055883	93055883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaattgggcccattggcGcttcacggtggtttggacct	5	14	13	9	2	1	1	1	1	0	0	1	2	1	2	2	5	0	2	2	5	1	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:93055883G>A	uc003umv.2	-	15	1612	c.1312C>T	c.(1312-1314)Cgc>Tgc	p.R438C	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R404C|CALCR_uc003umw.2_Missense_Mutation_p.R404C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	420					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R438C(1)|p.R404C(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GCCCATTGGCGCTTCACGGTG	0.537													A	93055883	G	A	93055883	3	1	165	1	0	0	0	0	1	0	0	0	2605	1087	38	1	218	1	CALCR	7	93055883	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	89064354	93055883	66082780	17	11481											
KIAA1549	57670	broad.mit.edu	37	chr7	138593736	138593736	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcattcagtgatattctcaCctgcaccgtgaggttatacg	9	13	9	10	2	2	2	2	2	1	0	3	2	2	2	2	1	3	3	2	1	3	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:138593736C>A	uc011kql.2	-	5	3325	c.3276_splice	c.e5+1	p.Q1092_splice	KIAA1549_uc011kqj.2_Splice_Site_p.Q1092_splice	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	1092						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GATATTCTCACCTGCACCGTG	0.468			O	BRAF	pilocytic astrocytoma								A	138593736	C	A	138593736	5	1	165	1	0	0	0	0	0	0	1	0	8302	521	18	4	2639	4	KIAA1549	7	138593736	Splice_Site	SNP	C	TCGA-19-5952-01A-11D-1696-08	45537853	138593736	20544927	18	11482											
PRKAG2	51422	broad.mit.edu	37	chr7	151261177	151261177	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcacctcagctcttactAttctgtccacgatggtctcc	6	14	6	15	1	5	0	2	0	4	0	8	1	6	0	3	1	2	1	3	1	2	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr7:151261177A>T	uc003wkk.3	-	13	2182	c.1571T>A	c.(1570-1572)aTa>aAa	p.I524K	PRKAG2_uc003wki.3_Missense_Mutation_p.I283K|PRKAG2_uc011kvl.2_Missense_Mutation_p.I399K|PRKAG2_uc003wkj.3_Missense_Mutation_p.I480K|PRKAG2_uc003wkl.2_Missense_Mutation_p.I72K	NM_016203	NP_077747	Q9UGJ0	AAKG2_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 2 non-catalytic subunit (PRKAG2), transcript variant a, mRNA.	524	CBS 4.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGCTCTTACTATTCTGTCCAC	0.517													T	151261177	A	T	151261177	3	4	165	1	0	0	0	0	1	0	0	0	12587	449	16	5	150	5	PRKAG2	7	151261177	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	12667441	151261177	7877486	19	11483											
FRMD3	257019	broad.mit.edu	37	chr9	85913683	85913683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgcacctcaggaggctcCctctggatcttggaactggc	6	10	12	13	0	3	0	1	0	2	0	4	3	4	3	2	5	2	2	2	5	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:85913683C>T	uc004ams.2	-	11	1252	c.1050G>A	c.(1048-1050)agG>agA	p.R350R	FRMD3_uc004amr.1_Silent_p.R350R|FRMD3_uc022bja.1_Silent_p.R306R|FRMD3_uc022biz.1_Silent_p.R156R	NM_174938	NP_777598	A2A2Y4	FRMD3_HUMAN	Homo sapiens FERM domain containing 3 (FRMD3), transcript variant 1, mRNA.	350						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						CAGGAGGCTCCCTCTGGATCT	0.493													T	85913683	C	T	85913683	2	4	165	1	0	0	0	0	0	0	0	1	6102	622	22	2		2	FRMD3	9	85913683	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		85913683	55299748	20	11484											
LRRC8A	56262	broad.mit.edu	37	chr9	131669841	131669841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctggtgcttctgcacaCgctcatcttcctggcctgca	5	12	8	16	1	3	0	1	0	2	0	4	0	4	0	3	2	4	4	3	2	1	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr9:131669841C>T	uc004bwl.4	+	2	652	c.398C>T	c.(397-399)aCg>aTg	p.T133M	LRRC8A_uc010myp.3_Missense_Mutation_p.T133M|LRRC8A_uc010myq.3_Missense_Mutation_p.T133M	NM_019594	NP_062540	Q8IWT6	LRC8A_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member A (LRRC8A), transcript variant 2, mRNA.	133					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						CTTCTGCACACGCTCATCTTC	0.557													T	131669841	C	T	131669841	3	4	165	1	0	0	0	0	1	0	0	0	9091	536	19	1	400	1	LRRC8A	9	131669841	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	45756158	131669841	9543590	21	11485											
APBB1IP	54518	broad.mit.edu	37	chr10	26849669	26849672	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															ctctccccagtatgggaagaCtctctatgataactaccagc																								rs145279460		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:26849669_26849672delCTCT	uc001iss.3	+	12	1586_1589	c.1265_1268delCTCT	c.(1264-1269)actctcfs	p.T422fs		NM_019043	NP_061916	Q7Z5R6	AB1IP_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein (APBB1IP), mRNA.	422					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TATGGGAAGACTCTCTATGATAAC	0.461													-	26849672	CTCT	-	26849669	7	5	165	1	0	1	0	1	0	0	0	0	762	565	20	0	1307	0	APBB1IP	10	26849669	Frame_Shift_Del	DEL	CTCT	TCGA-19-5952-01A-11D-1696-08		26849669	108685078	22	11486											
SYT15	83849	broad.mit.edu	37	chr10	46965845	46965845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgtccacgtggtagacgGagaacttcagcaccctctgg	8	8	12	13	2	2	2	1	0	1	2	3	3	3	2	3	3	2	2	3	3	2	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:46965845G>T	uc001jea.3	-	4	845	c.692C>A	c.(691-693)tCc>tAc	p.S231Y	SYT15_uc001jdz.2_Missense_Mutation_p.S231Y|SYT15_uc001jeb.3_Missense_Mutation_p.S109Y|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	231	C2 1.					integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTGGTAGACGGAGAACTTCAG	0.622													T	46965845	G	T	46965845	3	4	165	1	0	0	0	0	1	0	0	0	15568	1174	41	4	643	4	SYT15	10	46965845	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	20116176	46965845	88568902	23	11487											
PTEN	5728	broad.mit.edu	37	chr10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggaaagggacgaactgGtgtaatgatatgtgcatatt	13	11	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	3	3	0	3	5	4	rs121909241		TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:89692911G>A	uc001kfb.3	+	4	1427	c.395G>A	c.(394-396)gGt>gAt	p.G132D	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.G132D(9)|p.?(5)|p.R55fs*1(5)|p.G132V(3)|p.G132S(3)|p.T131fs*3(3)|p.A121_F145del(2)|p.Y27fs*1(2)|p.T131fs*42(2)|p.Y27_N212>Y(2)|p.T131fs*50(1)|p.T131I(1)|p.G132fs*2(1)|p.R130fs*2(1)|p.T131N(1)|p.T131P(1)|p.T131A(1)|p.G132R(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692911	G	A	89692911	3	1	165	1	0	0	0	0	1	0	0	0	12823	1261	44	2	413	2	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	42727066	89692911	45841836	24	11488											
PSD	5662	broad.mit.edu	37	chr10	104171572	104171572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaggccagctccttcagaaAcaccctggagaaggggcaag	13	5	12	11	0	1	2	1	0	0	2	2	3	2	2	3	4	2	2	3	4	4	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr10:104171572A>G	uc001kvg.1	-	7	2361	c.1834T>C	c.(1834-1836)Ttt>Ctt	p.F612L	PSD_uc001kvh.1_Missense_Mutation_p.F233L|PSD_uc009xxd.1_Missense_Mutation_p.F612L	NM_002779	NP_002770	A5PKW4	PSD1_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing (PSD), mRNA.	612	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		TCCTTCAGAAACACCCTGGAG	0.582													G	104171572	A	G	104171572	3	3	165	1	0	0	0	0	1	0	0	0	12731	43	2	3	1280	3	PSD	10	104171572	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	14478661	104171572	31363175	25	11489											
OR8K3	219473	broad.mit.edu	37	chr11	56086192	56086192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctatacacagtaatcatgtCacgaagggtatgtcaggtgc	12	10	11	8	1	3	0	3	0	0	0	3	1	3	0	0	2	2	3	0	2	5	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:56086192C>T	uc010rjf.2	+	0	410	c.410C>T	c.(409-411)tCa>tTa	p.S137L		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S137*(2)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GTAATCATGTCACGAAGGGTA	0.413													T	56086192	C	T	56086192	3	4	165	1	0	0	0	0	1	0	0	0	11320	838	29	2	412	2	OR8K3	11	56086192	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		56086192	78920324	26	11490											
OR5B3	441608	broad.mit.edu	37	chr11	58170525	58170525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcacactgctgcatagcGgtcataggccattgaggcca	9	10	11	11	1	1	1	1	1	0	0	1	1	1	1	2	3	4	3	2	3	2	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:58170525G>A	uc010rkf.2	-	0	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R120L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GCTGCATAGCGGTCATAGGCC	0.468													A	58170525	G	A	58170525	3	1	165	1	0	0	0	0	1	0	0	0	11228	1116	39	1	588	1	OR5B3	11	58170525	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	2084333	58170525	76835991	27	11491											
CLPB	81570	broad.mit.edu	37	chr11	72114088	72114088	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgacatctgcaccttctGacaacagcctaaaacaagac	15	8	5	13	0	2	3	0	2	2	1	2	3	2	3	2	0	4	1	2	0	4	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:72114088G>C	uc001osj.3	-	2	514	c.464C>G	c.(463-465)tCa>tGa	p.S155*	CLPB_uc010rqx.2_Nonsense_Mutation_p.S110*|CLPB_uc010rqy.2_Intron|CLPB_uc001osk.3_Nonsense_Mutation_p.S155*|CLPB_uc010rqz.2_Intron	NM_030813	NP_110440	Q9H078	CLPB_HUMAN	Homo sapiens ClpB caseinolytic peptidase B homolog (E. coli) (CLPB), mRNA.	155					cellular response to heat		ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	19						TGCACCTTCTGACAACAGCCT	0.458													C	72114088	G	C	72114088	4	2	165	1	0	0	0	0	0	1	0	0	3582	1294	45	4	1719	4	CLPB	11	72114088	Nonsense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	13943563	72114088	62892428	28	11492											
MMP1	4312	broad.mit.edu	37	chr11	102665949	102665949	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgaatcgtagttatagcAtcaaaggttagcttactgtc	11	12	8	10	2	1	0	1	0	0	0	3	1	1	0	2	1	3	5	2	1	7	5			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:102665949A>T	uc001phi.2	-	5	998	c.855T>A	c.(853-855)gaT>gaA	p.D285E	LOC100288077_uc001phh.1_Non-coding_Transcript|MMP1_uc010ruv.1_Missense_Mutation_p.D219E	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	285	Hemopexin-like 1.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TAGTTATAGCATCAAAGGTTA	0.403													T	102665949	A	T	102665949	3	4	165	1	0	0	0	0	1	0	0	0	9723	214	8	5	574	5	MMP1	11	102665949	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	30551861	102665949	32340567	29	11493											
DSCAML1	57453	broad.mit.edu	37	chr11	117329509	117329509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagagcacactgctgcgtaCgccgtccccagcctgggtgt	6	8	13	14	3	0	1	0	0	0	1	1	1	1	1	4	1	5	4	4	1	2	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr11:117329509C>T	uc001prh.1	-	18	3711	c.3709G>A	c.(3709-3711)Gta>Ata	p.V1237I		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	1177	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity	p.G1236G(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CTGCTGCGTACGCCGTCCCCA	0.652													T	117329509	C	T	117329509	3	4	165	1	0	0	0	0	1	0	0	0	4808	536	19	1	2692	1	DSCAML1	11	117329509	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	14663560	117329509	17677007	30	11494											
KIAA1467	57613	broad.mit.edu	37	chr12	13215874	13215874	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acttggatgaagacggtgttCgagaccttgtggttctggcc	7	12	14	8	2	1	3	0	1	1	2	2	5	1	4	2	4	0	2	2	4	1	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:13215874C>G	uc001rbi.3	+	4	840	c.817C>G	c.(817-819)Cga>Gga	p.R273G	KIAA1467_uc021qvn.1_Non-coding_Transcript	NM_020853	NP_065904	A2RU67	K1467_HUMAN	Homo sapiens KIAA1467 (KIAA1467), mRNA.	273						integral to membrane				NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(4)	36		Prostate(47;0.184)		BRCA - Breast invasive adenocarcinoma(232;0.157)		AGACGGTGTTCGAGACCTTGT	0.448													G	13215874	C	G	13215874	3	3	165	1	0	0	0	0	1	0	0	0	8293	876	31	4	835	4	KIAA1467	12	13215874	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		13215874	120636021	31	11495											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435551	18435551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtagcattcctccaacaaAttcatccttctcaagtgact	13	12	4	12	0	2	1	2	1	1	0	6	1	5	1	3	0	2	2	3	0	5	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:18435551A>G	uc001rdt.3	+	1	652	c.536A>G	c.(535-537)aAt>aGt	p.N179S	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.N179S|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	179					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CCTCCAACAAATTCATCCTTC	0.343													G	18435551	A	G	18435551	3	3	165	1	0	0	0	0	1	0	0	0	11988	101	4	3	538	3	PIK3C2G	12	18435551	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08	5219677	18435551	115416344	32	11496											
TMEM132D	121256	broad.mit.edu	37	chr12	129559351	129559351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttaactttgatgtttgccGttccaacagctaacacactc	11	14	5	11	1	0	1	0	1	0	0	2	1	1	1	2	0	5	3	2	0	3	6			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr12:129559351G>A	uc009zyl.1	-	8	2697	c.2369C>T	c.(2368-2370)aCg>aTg	p.T790M	TMEM132D_uc001uia.2_Missense_Mutation_p.T328M	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	790						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GATGTTTGCCGTTCCAACAGC	0.483													A	129559351	G	A	129559351	3	1	165	1	0	0	0	0	1	0	0	0	16147	1145	40	1	934	1	TMEM132D	12	129559351	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	111123800	129559351	4292544	33	11497											
ADCY4	196883	broad.mit.edu	37	chr14	24787905	24787905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccatgcggctggccacGttcactgtgttgccccaaat	6	11	9	15	2	2	0	1	0	1	0	3	0	2	0	4	2	2	3	4	2	1	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:24787905G>A	uc001wow.3	-	23	3455	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	ADCY4_uc010toh.2_Silent_p.N698N|ADCY4_uc001wox.3_Silent_p.N1012N|ADCY4_uc001woy.3_Silent_p.N1012N	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	1012					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GGCTGGCCACGTTCACTGTGT	0.537													A	24787905	G	A	24787905	2	1	165	1	0	0	0	0	0	0	0	1	296	1136	40	1		1	ADCY4	14	24787905	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08		24787905	82561635	34	11498											
SERPINA1	5265	broad.mit.edu	37	chr14	94849557	94849557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaggaggatgccccaCgagacagaagacggcattgt	12	4	14	11	2	0	3	0	0	0	3	0	6	0	5	3	3	2	2	3	3	1	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr14:94849557C>T	uc001ycy.4	-	3	572	c.18G>A	c.(16-18)tcG>tcA	p.S6S	SERPINA1_uc001ycw.4_Non-coding_Transcript|SERPINA1_uc001ycx.4_Silent_p.S6S|SERPINA1_uc010auy.3_Silent_p.S6S|SERPINA1_uc001ycz.4_Silent_p.S6S|SERPINA1_uc010auz.3_Silent_p.S6S|SERPINA1_uc010ava.3_Silent_p.S6S|SERPINA1_uc001ydb.4_Silent_p.S6S|SERPINA1_uc010avb.3_Silent_p.S6S|SERPINA1_uc001ydc.4_Silent_p.S6S|SERPINA1_uc010auw.3_Silent_p.S6S|SERPINA1_uc010aux.3_Silent_p.S6S|SERPINA1_uc001yda.1_Silent_p.S6S	NM_001002236	NP_001121179	P01009	A1AT_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 (SERPINA1), transcript variant 2, mRNA.	6					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	GGATGCCCCACGAGACAGAAG	0.612													T	94849557	C	T	94849557	2	4	165	1	0	0	0	0	0	0	0	1	14179	523	19	1		1	SERPINA1	14	94849557	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	70061652	94849557	12499983	35	11499											
RYR3	6263	broad.mit.edu	37	chr15	34064164	34064164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtgaaggctgggttaCgagcattctttgaaaatgct	10	12	13	6	1	1	2	0	2	1	0	1	3	1	2	0	3	4	5	0	3	4	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr15:34064164C>T	uc001zhi.3	+	62	8930	c.8860C>T	c.(8860-8862)Cga>Tga	p.R2954*	RYR3_uc010bar.3_Nonsense_Mutation_p.R2954*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2954					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGCTGGGTTACGAGCATTCTT	0.448													T	34064164	C	T	34064164	4	4	165	1	0	0	0	0	0	1	0	0	13861	528	19	1	9110	1	RYR3	15	34064164	Nonsense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08		34064164	68467228	36	11500											
ODF4	146852	broad.mit.edu	37	chr17	8243551	8243551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaggtccttgggccagcGccagaactctccgctgccct	7	8	10	16	2	1	1	0	0	1	1	3	1	2	1	5	2	4	1	5	2	2	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:8243551G>A	uc002gle.1	+	0	364	c.182G>A	c.(181-183)cGc>cAc	p.R61H		NM_153007	NP_694552	Q2M2E3	ODFP4_HUMAN	Homo sapiens outer dense fiber of sperm tails 4 (ODF4), mRNA.	61					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		p.R61S(1)		endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)	8						TTGGGCCAGCGCCAGAACTCT	0.587													A	8243551	G	A	8243551	3	1	165	1	0	0	0	0	1	0	0	0	10909	1087	38	1	184	1	ODF4	17	8243551	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		8243551	72951659	37	11501											
PPP1R1B	84152	broad.mit.edu	37	chr17	37791907	37791907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctggaagggccctgggagCgcccaccccctctggatgag	6	6	15	14	1	2	1	0	1	2	0	2	4	2	4	4	4	1	0	4	4	1	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:37791907C>T	uc002hrz.3	+	5	962	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PPP1R1B_uc010cvx.3_Missense_Mutation_p.R132C|PPP1R1B_uc002hsb.3_Missense_Mutation_p.R129C|PPP1R1B_uc002hsc.3_Missense_Mutation_p.R129C|STARD3_uc010weg.2_5'Flank|STARD3_uc010wei.2_5'Flank|STARD3_uc002hsd.3_5'Flank|STARD3_uc002hse.3_5'Flank|STARD3_uc010weh.2_5'Flank	NM_032192	NP_852606	Q9UD71	PPR1B_HUMAN	Homo sapiens protein phosphatase 1, regulatory (inhibitor) subunit 1B (PPP1R1B), transcript variant 1, mRNA.	165					signal transduction	cytosol	protein kinase inhibitor activity|protein phosphatase inhibitor activity			kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCCCTGGGAGCGCCCACCCCC	0.582													T	37791907	C	T	37791907	3	4	165	1	0	0	0	0	1	0	0	0	12450	768	27	1	515	1	PPP1R1B	17	37791907	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	29548356	37791907	43403303	38	11502											
INTS2	57508	broad.mit.edu	37	chr17	59952385	59952385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgaagtgcattaaccGtcattacccatagcctgata	13	10	8	10	1	1	2	1	2	0	0	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:59952385G>A	uc002izn.3	-	18	2571	c.2495C>T	c.(2494-2496)aCg>aTg	p.T832M	INTS2_uc002izm.3_Missense_Mutation_p.T824M	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	832					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						TGCATTAACCGTCATTACCCA	0.343													A	59952385	G	A	59952385	3	1	165	1	0	0	0	0	1	0	0	0	7836	1145	40	1	1147	1	INTS2	17	59952385	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	22160478	59952385	21242825	39	11503											
TANC2	26115	broad.mit.edu	37	chr17	61271350	61271350	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgccttcttgttacAggtgatgctgaacaggagct	9	13	10	9	0	2	2	1	2	1	0	2	3	2	3	1	2	5	3	1	2	3	4			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:61271350A>G	uc002jal.4	+	4	235	c.212_splice	c.e4-2	p.G71_splice	TANC2_uc010wpe.2_5'Flank	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	71							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCTTGTTACAGGTGATGCTG	0.423													G	61271350	A	G	61271350	5	3	165	1	0	0	0	0	0	0	1	0	15642	202	7	3	224	3	TANC2	17	61271350	Splice_Site	SNP	A	TCGA-19-5952-01A-11D-1696-08	1318965	61271350	19923860	40	11504											
PCYT2	5833	broad.mit.edu	37	chr17	79864762	79864762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccggtccaggggttccGcccaccagggcactgcaagc	7	5	12	17	2	0	0	0	0	0	0	2	0	2	0	6	4	3	3	6	4	2	2			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr17:79864762G>A	uc002kcf.2	-	6	659	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PCYT2_uc010wvb.2_Missense_Mutation_p.R152W|PCYT2_uc002kce.2_Missense_Mutation_p.R106W|PCYT2_uc002kch.2_Missense_Mutation_p.R202W|PCYT2_uc002kci.2_Missense_Mutation_p.R143W|PCYT2_uc010wvc.2_Missense_Mutation_p.R106W	NM_002861	NP_002852	Q99447	PCY2_HUMAN	Homo sapiens phosphate cytidylyltransferase 2, ethanolamine (PCYT2), transcript variant 2, mRNA.	184	Catalytic 1 (Potential).				phospholipid biosynthetic process		ethanolamine-phosphate cytidylyltransferase activity			breast(2)|endometrium(1)|lung(4)|ovary(1)	8	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			CAGGGGTTCCGCCCACCAGGG	0.622													A	79864762	G	A	79864762	3	1	165	1	0	0	0	0	1	0	0	0	11688	1086	38	1	647	1	PCYT2	17	79864762	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	18593412	79864762	1330448	41	11505											
DSC3	1825	broad.mit.edu	37	chr18	28605880	28605880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtgctgcatcagattcaAcctaaaagtagaaaaaaaat	18	10	6	7	0	3	2	2	0	1	2	3	2	3	2	1	0	3	3	1	0	8	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28605880A>G	uc002kwj.4	-	5	630	c.475_splice	c.e5-1	p.V159_splice	DSC3_uc002kwi.4_Splice_Site_p.V159_splice	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	159	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATCAGATTCAACCTAAAAGTA	0.264													G	28605880	A	G	28605880	3	3	165	1	0	0	0	0	1	0	0	0	4806	57	2	3	2293	3	DSC3	18	28605880	Missense_Mutation	SNP	A	TCGA-19-5952-01A-11D-1696-08		28605880	49471368	42	11506											
DSG4	147409	broad.mit.edu	37	chr18	28991295	28991295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgttggcctcatggccGcaggggccgcaggagcctca	6	5	15	15	3	2	0	2	0	0	0	2	1	2	1	5	5	2	3	5	5	0	1			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr18:28991295G>A	uc002kwr.2	+	13	2431	c.2296G>A	c.(2296-2298)Gca>Aca	p.A766T	DSG4_uc002kwq.2_Missense_Mutation_p.A747T	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	747					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.A747T(1)|p.A766T(1)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTCATggccgcaggggccgc	0.612													A	28991295	G	A	28991295	3	1	165	1	0	0	0	0	1	0	0	0	4818	1087	38	1	2418	1	DSG4	18	28991295	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08	385415	28991295	49085953	43	11507											
POLRMT	5442	broad.mit.edu	37	chr19	618520	618522	+	In_Frame_Del	DEL	GGA	GGA	-																															agggcggtgagcatcatgtgGgaggagtccagcgagtggat																										TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:618520_618522delGGA	uc002lpf.1	-	16	3444_3446	c.3388_3390delTCC	c.(3388-3390)tccdel	p.S1130del		NM_005035	NP_005026	O00411	RPOM_HUMAN	Homo sapiens polymerase (RNA) mitochondrial (DNA directed) (POLRMT), nuclear gene encoding mitochondrial protein, mRNA.	1130	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|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)		GCATCATGTGGGAGGAGTCCAGC	0.66													-	618522	GGA	-	618520	7	5	165	1	0	1	0	1	0	0	0	0	12315	1219	43	0	322	0	POLRMT	19	618520	In_Frame_Del	DEL	GGA	TCGA-19-5952-01A-11D-1696-08		618520	58510463	44	11508											
ZNF681	148213	broad.mit.edu	37	chr19	23927954	23927954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctgggtagttggcaaaCattggttaagtccattataa	11	14	10	6	0	1	0	0	0	1	0	2	0	2	0	1	3	2	5	1	3	5	6			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:23927954C>T	uc002nrk.4	-	3	540	c.398G>A	c.(397-399)tGt>tAt	p.C133Y	ZNF681_uc002nrl.4_Missense_Mutation_p.C64Y|ZNF681_uc002nrj.4_Missense_Mutation_p.C64Y	NM_138286	NP_612143	Q96N22	ZN681_HUMAN	Homo sapiens zinc finger protein 681 (ZNF681), mRNA.	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AGTTGGCAAACATTGGTTAAG	0.313													T	23927954	C	T	23927954	3	4	165	1	0	0	0	0	1	0	0	0	18189	478	17	2	1543	2	ZNF681	19	23927954	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	23309434	23927954	35201029	45	11509											
PRODH2	58510	broad.mit.edu	37	chr19	36293096	36293096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagccattcacatacccaGtgctagagagacgtggtcac	11	7	12	11	1	2	2	2	0	0	2	2	4	2	3	2	2	3	1	2	2	2	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:36293096G>A	uc002obx.1	-	9	1441	c.1423C>T	c.(1423-1425)Ctg>Ttg	p.L475L		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	475					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CACATACCCAGTGCTAGAGAG	0.577													A	36293096	G	A	36293096	2	1	165	1	0	0	0	0	0	0	0	1	12635	1020	36	2		2	PRODH2	19	36293096	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	12365142	36293096	22835887	46	11510											
PSG7	5676	broad.mit.edu	37	chr19	43439731	43439731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatttaattatttgaccGtctactatatatgatgtaac	13	17	4	7	1	1	2	0	2	1	0	1	2	1	2	2	0	2	1	2	0	8	10	rs140238439	by1000genomes	TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:43439731G>A	uc002ovl.4	-	1	357	c.255C>T	c.(253-255)gaC>gaT	p.D85D	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG7_uc010xwl.2_Intron	NM_002783	NP_002774	Q13046	PSG7_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene) (PSG7), transcript variant 1, mRNA.	85	Ig-like V-type.				female pregnancy	extracellular region							Prostate(69;0.00682)				TTATTTGACCGTCTACTATAT	0.418													A	43439731	G	A	43439731	2	1	165	1	0	0	0	0	0	0	0	1	12745	1136	40	1		1	PSG7	19	43439731	Silent	SNP	G	TCGA-19-5952-01A-11D-1696-08	7146635	43439731	15689252	47	11511											
PVR	5817	broad.mit.edu	37	chr19	45153193	45153193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccaaatcacctggcaCtcagacctgggcgggatgcc	9	5	11	16	1	2	1	2	0	0	1	2	2	2	2	5	3	2	1	5	3	1	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:45153193C>T	uc002ozm.3	+	2	839	c.540C>T	c.(538-540)caC>caT	p.H180H	PVR_uc010ejs.3_Silent_p.H180H|PVR_uc010xxb.2_Silent_p.H180H|PVR_uc010xxc.2_Silent_p.H180H|PVR_uc002ozn.3_Silent_p.H125H	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	180	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		TCACCTGGCACTCAGACCTGG	0.632													T	45153193	C	T	45153193	2	4	165	1	0	0	0	0	0	0	0	1	12925	564	20	2		2	PVR	19	45153193	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08	1713462	45153193	13975790	48	11512											
VSTM1	284415	broad.mit.edu	37	chr19	54567025	54567025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagggagaggaattctgCggtcatagcgtcccttctgc	9	9	13	10	2	3	1	1	0	2	1	4	3	4	2	1	3	4	1	1	3	3	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr19:54567025C>T	uc002qcw.4	-	0	183	c.7G>A	c.(7-9)Gca>Aca	p.A3T	VSTM1_uc021vbe.1_Non-coding_Transcript|VSTM1_uc021vbf.1_5'UTR|VSTM1_uc002qcx.4_Missense_Mutation_p.A3T|VSTM1_uc010erb.3_Non-coding_Transcript|VSTM1_uc021vbg.1_Missense_Mutation_p.A3T	NM_198481	NP_940883	Q6UX27	VSTM1_HUMAN	Homo sapiens V-set and transmembrane domain containing 1 (VSTM1), mRNA.	3						integral to membrane				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		AGGAATTCTGCGGTCATAGCG	0.627													T	54567025	C	T	54567025	3	4	165	1	0	0	0	0	1	0	0	0	17330	768	27	1	739	1	VSTM1	19	54567025	Missense_Mutation	SNP	C	TCGA-19-5952-01A-11D-1696-08	9413832	54567025	4561958	49	11513											
SLCO4A1	28231	broad.mit.edu	37	chr20	61297841	61297841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctgcctgttctgcacCgttgtcagcctgctgggcat	5	13	11	12	1	3	0	1	0	2	0	3	0	3	0	3	1	4	6	3	1	1	3			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr20:61297841C>T	uc002ydb.1	+	6	1591	c.1386C>T	c.(1384-1386)acC>acT	p.T462T	LOC100127888_uc002ydd.3_Non-coding_Transcript|SLCO4A1_uc002yde.1_5'Flank	NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	462					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTTCTGCACCGTTGTCAGCC	0.652													T	61297841	C	T	61297841	2	4	165	1	0	0	0	0	0	0	0	1	14823	639	23	1		1	SLCO4A1	20	61297841	Silent	SNP	C	TCGA-19-5952-01A-11D-1696-08		61297841	1727679	50	11514											
OSM	5008	broad.mit.edu	37	chr22	30660354	30660354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtctgcaggaagccccGcctgcccagccccctcaggg	6	4	14	17	1	2	0	1	0	1	0	2	2	2	1	6	3	4	1	6	3	1	0			TCGA-19-5952-01A-11D-1696-08	TCGA-19-5952-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	483cad63-ca73-4b31-b4c7-9d73f2cb4186	1ed4b4f1-5d98-4490-87ee-303f7699f8f6	g.chr22:30660354G>A	uc003ahb.3	-	2	318	c.277C>T	c.(277-279)Cgg>Tgg	p.R93W		NM_020530	NP_065391	P13725	ONCM_HUMAN	Homo sapiens oncostatin M (OSM), mRNA.	93					cell proliferation|immune response|negative regulation of cell proliferation|negative regulation of hormone secretion|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of MAPKKK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of growth	extracellular space|oncostatin-M receptor complex	cytokine activity|growth factor activity|oncostatin-M receptor binding	p.R93R(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|skin(3)	11			Epithelial(10;0.206)			AGGAAGCCCCGCCTGCCCAGC	0.642													A	30660354	G	A	30660354	3	1	165	1	0	0	0	0	1	0	0	0	11367	1086	38	1	485	1	OSM	22	30660354	Missense_Mutation	SNP	G	TCGA-19-5952-01A-11D-1696-08		30660354	20644212	51	11515											
PADI6	353238	broad.mit.edu	37	chr1	17708559	17708559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catacctccaaggaagagtcGaagaaggcgagagtctactg	14	6	12	9	2	1	3	0	0	1	3	3	6	2	4	2	2	2	0	2	2	6	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:17708559G>A	uc001bak.1	+	5	651	c.651G>A	c.(649-651)tcG>tcA	p.S217S		NM_207421	NP_997304	Q6TGC4	PADI6_HUMAN	Homo sapiens peptidyl arginine deiminase, type VI (PADI6), mRNA.	209					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAAGAGTCGAAGAAGGCGA	0.522													A	17708559	G	A	17708559	2	1	166	1	0	0	0	0	0	0	0	1	11457	1045	37	1		1	PADI6	1	17708559	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08		17708559	231542062	1	11516											
HP1BP3	50809	broad.mit.edu	37	chr1	21071371	21071371	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttcttgcactggttgcAggcttctttgaggagccacc	5	14	10	12	0	2	1	0	1	2	0	3	2	3	2	3	3	3	4	3	3	0	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:21071371A>G	uc001bdy.1	-	11	1681	c.1581T>C	c.(1579-1581)ccT>ccC	p.P527P	HP1BP3_uc001bdv.1_Silent_p.P489P|HP1BP3_uc001bdw.1_Silent_p.P527P|HP1BP3_uc010odh.1_Silent_p.P489P|HP1BP3_uc010odf.1_Silent_p.P186P|HP1BP3_uc010odg.1_Silent_p.P375P	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	527	Lys-rich.				nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		CACTGGTTGCAGGCTTCTTTG	0.458													G	21071371	A	G	21071371	2	3	166	1	0	0	0	0	0	0	0	1	7383	175	7	3		3	HP1BP3	1	21071371	Silent	SNP	A	TCGA-19-5953-01B-12D-1845-08	3362812	21071371	228179250	2	11517											
TINAGL1	64129	broad.mit.edu	37	chr1	32050587	32050587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacccaccagcagcagggCtgccgcggtgggcgtctcga	7	4	15	15	4	1	0	0	0	1	0	2	2	1	0	3	3	3	3	3	3	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:32050587C>T	uc001bta.3	+	6	933	c.807C>T	c.(805-807)ggC>ggT	p.G269G	TINAGL1_uc010ogj.2_Silent_p.G238G|TINAGL1_uc010ogk.1_Silent_p.G269G|TINAGL1_uc021oko.1_Silent_p.G164G	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	269					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		AGCAGCAGGGCTGCCGCGGTG	0.627													T	32050587	C	T	32050587	2	4	166	1	0	0	0	0	0	0	0	1	16022	784	28	2		2	TINAGL1	1	32050587	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	10979216	32050587	217200034	3	11518											
WDR78	79819	broad.mit.edu	37	chr1	67301382	67301382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgccattgtgatagccaaCggctaaaaggttaggtgctc	10	11	12	8	1	0	1	0	1	0	0	1	1	0	1	2	3	4	3	2	3	5	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:67301382C>T	uc001dcx.3	-	10	1716	c.1660G>A	c.(1660-1662)Gtt>Att	p.V554I	WDR78_uc009waw.3_Missense_Mutation_p.V300I|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	554										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TGATAGCCAACGGCTAAAAGG	0.363													T	67301382	C	T	67301382	3	4	166	1	0	0	0	0	1	0	0	0	17430	536	19	1	914	1	WDR78	1	67301382	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	35250795	67301382	181949239	4	11519											
BARHL2	343472	broad.mit.edu	37	chr1	91182597	91182597	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctacggtatcaatctccgaAcagggagatggggtggcctg	9	8	14	10	2	2	1	1	0	1	1	3	3	2	1	3	5	2	1	3	5	4	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:91182597A>G	uc001dns.3	-	0	198	c.156T>C	c.(154-156)tgT>tgC	p.C52C		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	52						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CAATCTCCGAACAGGGAGATG	0.607													G	91182597	A	G	91182597	2	3	166	1	0	0	0	0	0	0	0	1	1319	41	2	3		3	BARHL2	1	91182597	Silent	SNP	A	TCGA-19-5953-01B-12D-1845-08	23881215	91182597	158068024	5	11520											
HSD3B1	3283	broad.mit.edu	37	chr1	120056674	120056674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgggtggaatctgaaaaaCggcggcaccctgtacacttg	12	7	12	10	3	1	1	0	1	1	0	1	2	1	2	1	4	3	2	1	4	5	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:120056674C>T	uc001ehv.1	+	3	673	c.528C>T	c.(526-528)aaC>aaT	p.N176N		NM_000862	NP_000853	P14060	3BHS1_HUMAN	Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1 (HSD3B1), mRNA.	176					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATCTGAAAAACGGCGGCACCC	0.507													T	120056674	C	T	120056674	2	4	166	1	0	0	0	0	0	0	0	1	7445	535	19	1		1	HSD3B1	1	120056674	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	28874077	120056674	129193947	6	11521											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859794	144859794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtttccagggtcagtgCtggctgggaagttctggtta	5	14	15	7	0	2	0	1	0	1	0	3	1	3	1	1	4	1	6	1	4	2	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859794C>G	uc021ouh.1	-	37	6592	c.6290G>C	c.(6289-6291)aGc>aCc	p.S2097T	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Missense_Mutation_p.S2097T|PDE4DIP_uc001elx.4_Missense_Mutation_p.S1991T|PDE4DIP_uc001elv.4_Missense_Mutation_p.S1104T	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2097					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGGGTCAGTGCTGGCTGGGAA	0.577			T	PDGFRB	MPD								G	144859794	C	G	144859794	3	3	166	1	0	0	0	0	1	0	0	0	11719	797	28	4	778	4	PDE4DIP	1	144859794	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	24803120	144859794	104390827	7	11522											
PDE4DIP	9659	broad.mit.edu	37	chr1	144859988	144859988	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatttggtgacaggcatcCaggctgtaagctgagagaga	11	8	16	6	0	0	3	0	2	0	2	1	6	1	4	1	4	1	4	1	4	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:144859988C>G	uc021ouh.1	-	37	6398	c.6096G>C	c.(6094-6096)ctG>ctC	p.L2032L	NBPF10_uc021ots.1_Intron|NBPF10_uc010oye.2_Intron|PDE4DIP_uc001elk.2_Intron|PDE4DIP_uc001ell.2_Intron|PDE4DIP_uc001elm.4_Intron|PDE4DIP_uc001eln.4_Intron|PDE4DIP_uc001elo.3_Intron|PDE4DIP_uc001elw.4_Silent_p.L2032L|PDE4DIP_uc001elx.4_Silent_p.L1926L|PDE4DIP_uc001elv.4_Silent_p.L1039L	NM_001198834	NP_001185763	Q5VU43	MYOME_HUMAN	Homo sapiens phosphodiesterase 4D interacting protein (PDE4DIP), transcript variant 9, mRNA.	2032					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACAGGCATCCAGGCTGTAAG	0.527			T	PDGFRB	MPD								G	144859988	C	G	144859988	2	3	166	1	0	0	0	0	0	0	0	1	11719	581	21	4		4	PDE4DIP	1	144859988	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	194	144859988	104390633	8	11523											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150530495	150530495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgccagctgcagtgccGgcaggaatttggggggggtg	6	6	19	10	2	0	0	0	0	0	0	0	1	0	1	3	6	3	4	3	6	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:150530495G>A	uc009wlw.3	+	13	2479	c.2321G>A	c.(2320-2322)cGg>cAg	p.R774Q	ADAMTSL4_uc001euw.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc001eux.3_Missense_Mutation_p.R751Q|ADAMTSL4_uc010pcg.2_Missense_Mutation_p.R712Q|ADAMTSL4_uc009wlx.3_5'UTR	NM_019032	NP_061905	Q6UY14	ATL4_HUMAN	Homo sapiens ADAMTS-like 4 (ADAMTSL4), transcript variant 1, mRNA.	751	TSP type-1 2.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCAGTGCCGGCAGGAATTT	0.706													A	150530495	G	A	150530495	3	1	166	1	0	0	0	0	1	0	0	0	277	1116	39	1	2298	1	ADAMTSL4	1	150530495	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	5670507	150530495	98720126	9	11524											
FCGR3A	2214	broad.mit.edu	37	chr1	161518335	161518335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggcctggcttgagatgagGctctcattgtgaaaccactg	9	10	13	9	0	1	3	1	3	1	1	2	5	1	3	2	3	1	2	2	3	1	2	rs145248243		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:161518335G>A	uc001gar.3	-	2	487	c.303C>T	c.(301-303)agC>agT	p.S101S	FCGR3A_uc001gas.3_Silent_p.S100S|FCGR3A_uc001gat.4_Silent_p.S65S|FCGR3A_uc009wuh.3_Silent_p.S64S|FCGR3A_uc009wui.3_Silent_p.S65S	NM_000569	NP_001121067	P08637	FCG3A_HUMAN	Homo sapiens Fc fragment of IgG, low affinity IIIa, receptor (CD16a) (FCGR3A), transcript variant 1, mRNA.	65	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGAGATGAGGCTCTCATTGT	0.552													A	161518335	G	A	161518335	2	1	166	1	0	0	0	0	0	0	0	1	5833	1194	42	2		2	FCGR3A	1	161518335	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	10987840	161518335	87732286	10	11525											
GORAB	92344	broad.mit.edu	37	chr1	170521169	170521169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacaggaagcggtttgacAgggctgaagcagagtacatt	12	9	13	7	1	0	3	0	2	0	1	0	4	0	4	0	3	4	4	0	3	4	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:170521169A>G	uc001gha.2	+	4	778	c.751A>G	c.(751-753)Agg>Ggg	p.R251G	GORAB_uc009wvx.2_Missense_Mutation_p.R71G|GORAB_uc001ghb.2_Missense_Mutation_p.R71G|GORAB_uc001ghc.2_Missense_Mutation_p.R71G|GORAB_uc001ghd.2_Missense_Mutation_p.R44G	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	251	Necessary for interaction with RCHY1.					Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCGGTTTGACAGGGCTGAAGC	0.398													G	170521169	A	G	170521169	3	3	166	1	0	0	0	0	1	0	0	0	6627	179	7	3	773	3	GORAB	1	170521169	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08	9002834	170521169	78729452	11	11526											
PAPPA2	60676	broad.mit.edu	37	chr1	176563936	176563936	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccctgaacagcccctTcatggcatcttgccgctctt	5	12	8	16	1	3	1	1	1	2	0	4	1	4	1	5	2	3	2	5	2	1	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:176563936T>C	uc001gkz.3	+	2	2360	c.1196T>C	c.(1195-1197)tTc>tCc	p.F399S	PAPPA2_uc001gky.1_Missense_Mutation_p.F399S|PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	399					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						AACAGCCCCTTCATGGCATCT	0.592													C	176563936	T	C	176563936	3	2	166	1	0	0	0	0	1	0	0	0	11509	1783	62	3	1202	3	PAPPA2	1	176563936	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08	6042767	176563936	72686685	12	11527											
ANGPTL1	9068	broad.mit.edu	37	chr1	178822880	178822880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatataaatcccactgaccGaatgcccagcttcttttgct	10	13	5	13	1	2	1	1	1	1	0	3	2	3	1	3	0	3	2	3	0	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:178822880G>A	uc001gma.3	-	3	1342	c.866C>T	c.(865-867)tCg>tTg	p.S289L	RALGPS2_uc001gly.1_Intron|RALGPS2_uc010pnb.2_Intron|RALGPS2_uc001glz.3_Intron|ANGPTL1_uc001gmb.3_Missense_Mutation_p.S289L|ANGPTL1_uc010pnc.1_Missense_Mutation_p.S211L	NM_004673	NP_004664	O95841	ANGL1_HUMAN	Homo sapiens angiopoietin-like 1 (ANGPTL1), mRNA.	289	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						CCCACTGACCGAATGCCCAGC	0.373													A	178822880	G	A	178822880	3	1	166	1	0	0	0	0	1	0	0	0	613	1059	37	1	621	1	ANGPTL1	1	178822880	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	2258944	178822880	70427741	13	11528											
KIAA1614	57710	broad.mit.edu	37	chr1	180914469	180914469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcaccacggcgtgccctCagtgtggaggacgtgggtgc	6	8	15	12	3	2	0	2	0	0	0	2	2	2	2	2	4	2	0	2	4	0	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:180914469C>T	uc001gok.2	+	8	3385	c.3318C>T	c.(3316-3318)ctC>ctT	p.L1106L	KIAA1614_uc001gol.1_Silent_p.L727L|KIAA1614_uc001gom.1_Silent_p.L197L|STX6_uc009wxo.1_Non-coding_Transcript	NM_020950	NP_066001	Q5VZ46	K1614_HUMAN	Homo sapiens KIAA1614 (KIAA1614), mRNA.	1106										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGCGTGCCCTCAGTGTGGAGG	0.662													T	180914469	C	T	180914469	2	4	166	1	0	0	0	0	0	0	0	1	8306	813	29	2		2	KIAA1614	1	180914469	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	2091589	180914469	68336152	14	11529											
LAMB3	3914	broad.mit.edu	37	chr1	209796522	209796522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcctggagttgccacaGagctgtggacagatggcggt	8	9	15	9	1	1	2	0	0	1	2	1	4	1	4	2	4	3	2	2	4	0	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:209796522G>T	uc001hhg.3	-	15	2751	c.2361C>A	c.(2359-2361)ctC>ctA	p.L787L	LAMB3_uc009xco.3_Silent_p.L787L|LAMB3_uc001hhh.3_Silent_p.L787L|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	787	Domain alpha.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGTTGCCACAGAGCTGTGGAC	0.572													T	209796522	G	T	209796522	2	4	166	1	0	0	0	0	0	0	0	1	8671	929	33	4		4	LAMB3	1	209796522	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	28882053	209796522	39454099	15	11530											
TRIM58	25893	broad.mit.edu	37	chr1	248039229	248039229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctggatcccgccacggCgcacccgagtctgctcttga	8	7	11	15	4	2	1	0	1	2	0	3	3	3	2	3	2	2	3	3	2	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr1:248039229C>T	uc001ido.3	+	5	947	c.899C>T	c.(898-900)gCg>gTg	p.A300V	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	300	B30.2/SPRY.					intracellular	zinc ion binding	p.T299T(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCCGCCACGGCGCACCCGAGT	0.552													T	248039229	C	T	248039229	3	4	166	1	0	0	0	0	1	0	0	0	16632	768	27	1	921	1	TRIM58	1	248039229	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	38242707	248039229	1211392	16	11531											
APOB	338	broad.mit.edu	37	chr2	21232448	21232448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacaaactggtggtaaTcaaatgactttaatttcttt	13	16	5	7	0	3	1	1	1	2	0	3	1	3	1	0	2	2	1	0	2	5	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:21232448T>C	uc002red.3	-	25	7420	c.7292A>G	c.(7291-7293)gAt>gGt	p.D2431G		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2431					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTGGTGGTAATCAAATGACTT	0.343													C	21232448	T	C	21232448	3	2	166	1	0	0	0	0	1	0	0	0	788	1435	50	3	6415	3	APOB	2	21232448	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08		21232448	221966925	17	11532											
SLC9A4	389015	broad.mit.edu	37	chr2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagattctgatccgccGccagaacaccttaagggaga	14	7	10	10	2	1	4	0	1	1	3	2	6	2	4	4	1	1	0	4	1	4	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr2:103141556G>A	uc002tbz.4	+	9	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	631					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507													A	103141556	G	A	103141556	3	1	166	1	0	0	0	0	1	0	0	0	14810	1087	38	1	1930	1	SLC9A4	2	103141556	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	81909108	103141556	140057817	18	11533											
EEFSEC	60678	broad.mit.edu	37	chr3	127981028	127981028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggggaccagaggccccCgaaactgaagctccacaggg	10	2	15	14	2	0	2	0	1	0	1	1	4	1	3	5	5	2	1	5	5	2	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr3:127981028C>T	uc003eki.3	+	2	620	c.582C>T	c.(580-582)ccC>ccT	p.P194P		NM_021937	NP_068756	P57772	SELB_HUMAN	Homo sapiens eukaryotic elongation factor, selenocysteine-tRNA-specific (EEFSEC), mRNA.	194						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CAGAGGCCCCCGAAACTGAAG	0.562													T	127981028	C	T	127981028	2	4	166	1	0	0	0	0	0	0	0	1	4970	639	23	1		1	EEFSEC	3	127981028	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08		127981028	70041402	19	11534											
INTU	27152	broad.mit.edu	37	chr4	128564761	128564761	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgaagaagaaagcCtccttcctgagacaccaact	14	7	10	10	0	0	5	0	3	0	3	2	7	2	6	4	1	2	0	4	1	4	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr4:128564761C>G	uc003ifk.2	+	1	335	c.232C>G	c.(232-234)Ctc>Gtc	p.L78V	INTU_uc011cgq.2_Non-coding_Transcript	NM_015693	NP_056508	Q9ULD6	PDZD6_HUMAN	Homo sapiens inturned planar cell polarity effector homolog (Drosophila) (INTU), mRNA.	78										breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGAAGAAAGCCTCCTTCCTGA	0.393													G	128564761	C	G	128564761	3	3	166	1	0	0	0	0	1	0	0	0	7844	681	24	4	238	4	INTU	4	128564761	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		128564761	62589515	20	11535											
ELOVL7	79993	broad.mit.edu	37	chr5	60060144	60060144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttggctatttttcttgcGcagaacaaaaaagatctgaa	14	12	7	8	1	2	3	0	1	2	2	2	3	2	3	0	1	2	2	0	1	6	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:60060144G>A	uc003jsi.4	-	6	609	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	ELOVL7_uc011cqo.2_Missense_Mutation_p.R50C|ELOVL7_uc010iwk.3_Missense_Mutation_p.R137C|ELOVL7_uc003jsj.4_Missense_Mutation_p.R124C	NM_024930	NP_079206	A1L3X0	ELOV7_HUMAN	Homo sapiens ELOVL fatty acid elongase 7 (ELOVL7), transcript variant 1, mRNA.	137					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				TTTTTCTTGCGCAGAACAAAA	0.348													A	60060144	G	A	60060144	3	1	166	1	0	0	0	0	1	0	0	0	5120	1087	38	1	448	1	ELOVL7	5	60060144	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		60060144	120855116	21	11536											
PCDHGC5	56112	broad.mit.edu	37	chr5	140725076	140725076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcacttatgcattgacCgaggacactctccagggggc	9	8	11	13	2	2	1	1	1	1	0	3	3	2	2	2	3	1	2	2	3	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140725076C>T	uc003ljm.2	+	0	1476	c.1476C>T	c.(1474-1476)acC>acT	p.T492T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Silent_p.T492T	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	494	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCATTGACCGAGGACACTC	0.542													T	140725076	C	T	140725076	2	4	166	1	0	0	0	0	0	0	0	1	11647	639	23	1		1	PCDHGC5	5	140725076	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	80664932	140725076	40190184	22	11537											
PCDHGC5	56109	broad.mit.edu	37	chr5	140755737	140755737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgtacctggtggtggCggtggccgcggtctcctgcg	2	10	16	13	4	2	0	0	0	2	0	3	0	2	0	3	6	2	1	3	6	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:140755737C>T	uc003ljy.2	+	0	2087	c.2087C>T	c.(2086-2088)gCg>gTg	p.A696V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc011dau.2_Missense_Mutation_p.A696V	NM_018919	NP_061742	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 6 (PCDHGA6), transcript variant 1, mRNA.	697					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.I695N(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTGGTGGCGGTGGCCGCG	0.672													T	140755737	C	T	140755737	3	4	166	1	0	0	0	0	1	0	0	0	11647	768	27	1		1	PCDHGC5	5	140755737	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	30661	140755737	40159523	23	11538											
FAT2	2196	broad.mit.edu	37	chr5	150942915	150942915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaatcataaagaatcccAtgtagttcccactggtgatg	12	11	10	8	0	1	3	1	2	0	1	3	3	3	3	2	2	0	2	2	2	5	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:150942915A>G	uc003lue.4	-	1	3558	c.3545T>C	c.(3544-3546)aTg>aCg	p.M1182T	FAT2_uc010jhx.1_Missense_Mutation_p.M1182T	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	1182	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAAGAATCCCATGTAGTTCCC	0.512													G	150942915	A	G	150942915	3	3	166	1	0	0	0	0	1	0	0	0	5739	217	8	3	9592	3	FAT2	5	150942915	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08	10187178	150942915	29972345	24	11539											
LARP1	23367	broad.mit.edu	37	chr5	154135677	154135677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggacttcgtggaagccccCccgcccaaggtgaacccgtg	7	5	13	16	4	0	1	0	1	0	0	1	3	0	3	5	3	2	0	5	3	3	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr5:154135677C>T	uc003lvo.3	+						LARP1_uc021ygh.1_Intron|LARP1_uc021ygi.1_Silent_p.P120P|LARP1_uc010jie.1_5'Flank	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.								protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGAAGCCCCCCCGCCCAAGG	0.736													T	154135677	C	T	154135677	2	4	166	1	0	0	0	0	0	0	0	1	8687	638	22	2		2	LARP1	5	154135677	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	3192762	154135677	26779583	25	11540											
GPR116	221395	broad.mit.edu	37	chr6	46826522	46826522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccggttcttggtcaccgAtttccacaccacagcttcca	8	11	7	15	2	2	0	1	0	1	0	5	1	5	0	5	2	1	2	5	2	0	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:46826522A>T	uc003oyo.3	-	16	3407	c.3118T>A	c.(3118-3120)Tcg>Acg	p.S1040T	GPR116_uc011dwj.1_Missense_Mutation_p.S595T|GPR116_uc011dwk.1_Missense_Mutation_p.S469T|GPR116_uc003oyp.3_Missense_Mutation_p.S898T|GPR116_uc003oyq.3_Missense_Mutation_p.S1040T|GPR116_uc010jzi.1_Missense_Mutation_p.S712T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1040					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGGTCACCGATTTCCACACC	0.507													T	46826522	A	T	46826522	3	4	166	1	0	0	0	0	1	0	0	0	6687	333	12	5	942	5	GPR116	6	46826522	Missense_Mutation	SNP	A	TCGA-19-5953-01B-12D-1845-08		46826522	124288545	26	11541											
MANEA	79694	broad.mit.edu	37	chr6	96054014	96054014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggaacacgcaaaacactcgGaaccgaatcaatgggaagta	17	5	10	9	3	1	0	1	0	0	0	2	4	1	3	1	3	3	2	1	3	8	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:96054014G>A	uc003poo.2	+	4	1302	c.1122G>A	c.(1120-1122)cgG>cgA	p.R374R		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	374	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AAAACACTCGGAACCGAATCA	0.408													A	96054014	G	A	96054014	2	1	166	1	0	0	0	0	0	0	0	1	9296	1161	41	2		2	MANEA	6	96054014	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	49227492	96054014	75061053	27	11542											
SLC22A16	85413	broad.mit.edu	37	chr6	110768146	110768146	+	Frame_Shift_Del	DEL	A	A	-																															acgccgctgctattccaaacAaaaacatgctactgcttgtg																										TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:110768146delA	uc003puf.3	-	2	648	c.581delT	c.(580-582)ttgfs	p.L194fs	SLC22A16_uc003pue.3_Frame_Shift_Del_p.L175fs	NM_033125	NP_149116	Q86VW1	S22AG_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 16 (SLC22A16), mRNA.	194					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		TATTCCAAACAAAAACATGCT	0.433													-	110768146	A	-	110768146	7	5	166	1	0	1	0	1	0	0	0	0	14541	131	5	0	1176	0	SLC22A16	6	110768146	Frame_Shift_Del	DEL	A	TCGA-19-5953-01B-12D-1845-08	14714132	110768146	60346921	28	11543											
OLIG3	167826	broad.mit.edu	37	chr6	137815222	137815222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctcctggtggtggtggTggcggtggtggtggtccctc	0	12	20	9	1	1	0	0	0	1	0	4	0	2	0	2	10	0	1	2	10	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:137815222T>C	uc003qhp.1	-	0	310	c.86A>G	c.(85-87)cAc>cGc	p.H29R		NM_175747	NP_786923	Q7RTU3	OLIG3_HUMAN	Homo sapiens oligodendrocyte transcription factor 3 (OLIG3), mRNA.	29	Poly-His.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	11	Breast(32;0.165)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00161)|OV - Ovarian serous cystadenocarcinoma(155;0.00447)		gtggtggtggtggcggtggtg	0.577													C	137815222	T	C	137815222	3	2	166	1	0	0	0	0	1	0	0	0	10938	1696	59	3	736	3	OLIG3	6	137815222	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08	27047076	137815222	33299845	29	11544											
REPS1	85021	broad.mit.edu	37	chr6	139266737	139266737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggaattacaccagaataCgacccttgattttcagaatc	13	10	9	9	1	1	3	1	1	0	2	2	5	1	4	2	2	2	0	2	2	5	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr6:139266737C>T	uc003qii.3	-	2	954	c.375G>A	c.(373-375)tcG>tcA	p.S125S	REPS1_uc003qig.4_Silent_p.S125S|REPS1_uc011edr.2_Silent_p.S125S|REPS1_uc003qij.3_Silent_p.S125S|REPS1_uc003qik.3_5'UTR	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	125						coated pit|plasma membrane	calcium ion binding|SH3 domain binding	p.H124N(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACCAGAATACGACCCTTGAT	0.483													T	139266737	C	T	139266737	2	4	166	1	0	0	0	0	0	0	0	1	13316	523	19	1		1	REPS1	6	139266737	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	1451515	139266737	31848330	30	11545											
PCLO	27445	broad.mit.edu	37	chr7	82580167	82580167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgatcttttcttgttctCggaacctttgaatttcctga	7	18	6	10	1	3	3	0	3	3	0	5	4	4	4	3	1	1	1	3	1	2	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:82580167C>T	uc003uhx.2	-	5	10026	c.9737G>A	c.(9736-9738)cGa>cAa	p.R3246Q	PCLO_uc003uhv.2_Missense_Mutation_p.R3246Q|PCLO_uc010lec.3_Missense_Mutation_p.R211Q	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	3177	Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R3246L(3)|p.R3246R(1)|p.R3177L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTGTTCTCGGAACCTTTG	0.473													T	82580167	C	T	82580167	3	4	166	1	0	0	0	0	1	0	0	0	11659	884	31	1	5788	1	PCLO	7	82580167	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		82580167	76558496	31	11546											
ABCB1	5243	broad.mit.edu	37	chr7	87174224	87174224	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atctttttcttattagactgGatcttgaatcatttgaagac	11	18	6	6	0	4	4	1	2	3	2	4	5	4	5	0	1	0	0	0	1	4	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:87174224G>C	uc003uiz.2	-	16	2472	c.1979C>G	c.(1978-1980)tCc>tGc	p.S660C	ABCB1_uc011khc.2_Missense_Mutation_p.S596C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	660					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)	TATTAGACTGGATCTTGAATC	0.388													C	87174224	G	C	87174224	3	2	166	1	0	0	0	0	1	0	0	0	40	1174	41	4	1915	4	ABCB1	7	87174224	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	4594057	87174224	71964439	32	11547											
COL1A2	1278	broad.mit.edu	37	chr7	94039107	94039107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgttggtgctgccGgtgctactggtgccagagga	4	10	16	11	1	0	1	0	0	0	1	0	2	0	2	3	5	5	3	3	5	1	2	rs67865220		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:94039107G>A	uc003ung.1	+	18	1480	c.1009G>A	c.(1009-1011)Ggt>Agt	p.G337S	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	337			G -> C (in OI3).|G -> S (in OI3).		axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTGCTGCCGGTGCTACTGG	0.557										HNSCC(75;0.22)			A	94039107	G	A	94039107	3	1	166	1	0	0	0	0	1	0	0	0	3709	1116	39	1	1083	1	COL1A2	7	94039107	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	6864883	94039107	65099556	33	11548											
C7orf43	55262	broad.mit.edu	37	chr7	99753440	99753440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgctcctcctcacacaGctgctttcctgggggcagaa	6	8	11	16	2	1	1	1	0	0	1	4	1	4	1	4	3	2	4	4	3	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99753440G>A	uc003utr.3	-	8	1429	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	C7orf43_uc010lgo.3_Silent_p.L43L|C7orf43_uc010lgp.3_Silent_p.L39L|C7orf43_uc011kjj.2_Silent_p.L185L|C7orf43_uc003uts.3_Silent_p.L148L	NM_018275	NP_060745	Q8WVR3	CG043_HUMAN	Homo sapiens chromosome 7 open reading frame 43 (C7orf43), mRNA.	417										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTCACACAGCTGCTTTCCT	0.612													A	99753440	G	A	99753440	2	1	166	1	0	0	0	0	0	0	0	1	2417	962	34	2		2	C7orf43	7	99753440	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	5714333	99753440	59385223	34	11549											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998739	99998739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaacatcttccatgagttgCtccaggtccaggtcactgga	9	10	9	13	0	2	1	1	1	1	0	5	2	5	2	4	3	2	2	4	3	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:99998739C>T	uc003uut.3	-	17	2093	c.1845G>A	c.(1843-1845)gaG>gaA	p.E615E	ZCWPW1_uc011kjq.2_Silent_p.E495E|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Silent_p.E444E|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	615							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCATGAGTTGCTCCAGGTCCA	0.612													T	99998739	C	T	99998739	2	4	166	1	0	0	0	0	0	0	0	1	17698	796	28	2		2	ZCWPW1	7	99998739	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	245299	99998739	59139924	35	11550											
MUC17	140453	broad.mit.edu	37	chr7	100677675	100677675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacacctgtcagccacaCgctggtggccaattctgagg	10	7	11	13	1	2	1	1	1	1	0	2	1	2	1	3	3	2	2	3	3	2	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:100677675C>T	uc003uxp.1	+	2	3031	c.2978C>T	c.(2977-2979)aCg>aTg	p.T993M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	993	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)					GTCAGCCACACGCTGGTGGCC	0.512													T	100677675	C	T	100677675	3	4	166	1	0	0	0	0	1	0	0	0	10050	536	19	1	2988	1	MUC17	7	100677675	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	678936	100677675	58460988	36	11551											
OR2A25	392138	broad.mit.edu	37	chr7	143772171	143772171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcccatgcttaatcccCtaatttatagtcttaggaac	12	14	4	11	0	2	0	1	0	1	0	4	1	4	1	3	1	2	1	3	1	7	6			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr7:143772171C>T	uc011ktx.2	+	0	859	c.859C>T	c.(859-861)Cta>Tta	p.L287L		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GCTTAATCCCCTAATTTATAG	0.413													T	143772171	C	T	143772171	2	4	166	1	0	0	0	0	0	0	0	1	11054	680	24	2		2	OR2A25	7	143772171	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	43094496	143772171	15366492	37	11552											
FAM83H	286077	broad.mit.edu	37	chr8	144808270	144808270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatgctctccatgcggcGcagcagccgatcgcgctcct	5	7	12	17	6	1	0	0	0	1	0	4	1	2	0	3	1	4	5	3	1	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr8:144808270G>A	uc003yzk.3	-	4	3430	c.3361C>T	c.(3361-3363)Cgc>Tgc	p.R1121C		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1121					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCATGCGGCGCAGCAGCCGA	0.677													A	144808270	G	A	144808270	3	1	166	1	0	0	0	0	1	0	0	0	5690	1087	38	1	182	1	FAM83H	8	144808270	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		144808270	1555752	38	11553											
TAF1L	138474	broad.mit.edu	37	chr9	32633525	32633525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagatcctgaggtgtgcGcataaaaaacaactctccac	13	9	9	10	1	1	2	0	2	1	1	3	3	2	2	2	1	3	1	2	1	4	1	rs147409173		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:32633525G>A	uc003zrg.1	-	0	2143	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C	AX747113_uc003zrh.1_Non-coding_Transcript	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	685					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R685C(2)|p.R685L(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TGAGGTGTGCGCATAAAAAAC	0.448													A	32633525	G	A	32633525	3	1	166	1	0	0	0	0	1	0	0	0	15620	1087	38	1	3431	1	TAF1L	9	32633525	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		32633525	108579906	39	11554											
STRBP	55342	broad.mit.edu	37	chr9	125909182	125909182	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttggatggtcctgaggcTtcatatgttgtgccatccac	6	15	10	10	0	2	1	1	1	1	0	4	2	4	2	3	3	1	2	3	3	1	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr9:125909182T>C	uc004bns.3	-	12	1732	c.1290A>G	c.(1288-1290)gaA>gaG	p.E430E	STRBP_uc004bnt.3_Silent_p.E248E|STRBP_uc004bnu.3_Silent_p.E416E|STRBP_uc004bnv.3_Silent_p.E430E	NM_018387	NP_001164608	Q96SI9	STRBP_HUMAN	Homo sapiens spermatid perinuclear RNA binding protein (STRBP), transcript variant 1, mRNA.	430	DRBM 1.				multicellular organismal development	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(6)|prostate(1)|skin(2)	26						GTCCTGAGGCTTCATATGTTG	0.433													C	125909182	T	C	125909182	2	2	166	1	0	0	0	0	0	0	0	1	15423	1606	56	3		3	STRBP	9	125909182	Silent	SNP	T	TCGA-19-5953-01B-12D-1845-08	93275657	125909182	15304249	40	11555											
PTEN	5728	broad.mit.edu	37	chr10	89692893	89692893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaattcactgtaaagCtggaaagggacgaactggtg	13	8	13	7	1	1	0	1	0	0	0	1	3	1	2	0	3	4	4	0	3	5	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr10:89692893C>T	uc001kfb.3	+	4	1409	c.377C>T	c.(376-378)gCt>gTt	p.A126V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	126	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.A126D(6)|p.A126T(6)|p.?(5)|p.R55fs*1(5)|p.A126V(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.K125N(2)|p.A126S(2)|p.A126P(2)|p.K125E(2)|p.Y27_N212>Y(2)|p.A126fs*8(1)|p.K125*(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACTGTAAAGCTGGAAAGGGA	0.408		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692893	C	T	89692893	3	4	166	1	0	0	0	0	1	0	0	0	12823	797	28	2	395	2	PTEN	10	89692893	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		89692893	45841854	41	11556											
PDE3B	5140	broad.mit.edu	37	chr11	14839801	14839801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactggctctctaactaatcGatcacccatagaatttcctg	11	13	5	12	1	2	1	1	0	1	1	5	2	3	1	2	1	2	1	2	1	5	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:14839801G>A	uc001mln.3	+	5	1948	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	PDE3B_uc010rcr.2_Missense_Mutation_p.R481Q	NM_000922	NP_000913	Q13370	PDE3B_HUMAN	Homo sapiens phosphodiesterase 3B, cGMP-inhibited (PDE3B), mRNA.	532					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding	p.R532Q(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CTAACTAATCGATCACCCATA	0.388													A	14839801	G	A	14839801	3	1	166	1	0	0	0	0	1	0	0	0	11714	1058	37	1	1617	1	PDE3B	11	14839801	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		14839801	120166715	42	11557											
OR5T3	390154	broad.mit.edu	37	chr11	56020021	56020021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatgttggtcaatttcCtggcaaaaaataaatccatt	17	12	5	7	0	1	0	1	0	0	0	3	0	3	0	2	2	0	2	2	2	8	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:56020021C>T	uc010rjd.2	+	0	346	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F115F(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GGTCAATTTCCTGGCAAAAAA	0.368													T	56020021	C	T	56020021	2	4	166	1	0	0	0	0	0	0	0	1	11259	680	24	2		2	OR5T3	11	56020021	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	41180220	56020021	78986495	43	11558											
SHANK2	22941	broad.mit.edu	37	chr11	70319235	70319235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtatcgagggggatggCgacctactgcgtcccgctgg	6	8	16	11	4	0	0	0	0	0	0	2	3	1	1	2	4	3	3	2	4	2	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:70319235C>T	uc001oqc.3	-	21	5203	c.5091G>A	c.(5089-5091)tcG>tcA	p.S1697S	SHANK2_uc010rqn.2_Silent_p.S1173S|SHANK2_uc001opz.3_Silent_p.S1168S|BC127192_uc009ysn.1_Silent_p.G45G|SHANK2_uc001opy.3_Silent_p.S99S|SHANK2_uc021qmr.1_Non-coding_Transcript	NM_012309	NP_036441	Q9UPX8	SHAN2_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 2 (SHANK2), transcript variant 1, mRNA.	1384					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AGGGGGATGGCGACCTACTGC	0.537													T	70319235	C	T	70319235	2	4	166	1	0	0	0	0	0	0	0	1	14359	755	27	1		1	SHANK2	11	70319235	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	14299214	70319235	64687281	44	11559											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276821	71276910	+	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-																															gccagcctgttcctgctccaGctgtggctcctgtgggggct																								rs71473841	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:71276821_71276910delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	uc001oqt.1	+	0	213_302	c.188_277delGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	c.(187-279)agctgtggctcctgtgggggctccaagggggactgtggctcttgtgggggctccaaagggggctgtggttcctgtgggggctccaaggggggc>agc	p.CGSCGGSKGDCGSCGGSKGGCGSCGGSKGG64del		NM_001012710	NP_001012728	Q6L8G5	KR510_HUMAN	Homo sapiens keratin associated protein 5-10 (KRTAP5-10), mRNA.	64	7 X 4 AA repeats of C-C-X-P.					keratin filament		p.G69C(2)|p.K81K(2)|p.G65S(2)		endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCTGCTCCAGCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGGGCTGTGGCTC	0.676													-	71276910	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	-	71276821	7	5	166	1	0	1	0	1	0	0	0	0	8618	971	34	0	190	0	KRTAP5-10	11	71276821	In_Frame_Del	DEL	GCTGTGGCTCCTGTGGGGGCTCCAAGGGGGACTGTGGCTCTTGTGGGGGCTCCAAAGGGGGCTGTGGTTCCTGTGGGGGCTCCAAGGGGG	TCGA-19-5953-01B-12D-1845-08	957586	71276821	63729695	45	11560											
SLCO2B1	11309	broad.mit.edu	37	chr11	74876887	74876887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttggcagccgggtgcaccGaccccgaatgattggctatg	7	10	13	11	3	0	1	0	1	0	0	0	3	0	1	4	3	2	3	4	3	2	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:74876887G>A	uc001owb.3	+	3	736	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SLCO2B1_uc010rrq.2_Intron|SLCO2B1_uc010rrr.2_Intron|SLCO2B1_uc010rrs.2_5'UTR|SLCO2B1_uc001owc.3_5'UTR|SLCO2B1_uc001owd.3_Missense_Mutation_p.R92Q	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	114					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CGGGTGCACCGACCCCGAATG	0.572													A	74876887	G	A	74876887	3	1	166	1	0	0	0	0	1	0	0	0	14821	1058	37	1	355	1	SLCO2B1	11	74876887	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	3600066	74876887	60129629	46	11561											
DRD2	1813	broad.mit.edu	37	chr11	113286210	113286210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgttgactcgcttgcggCgtctgcggaggacaatgtag	6	11	16	8	4	1	1	0	1	1	0	2	3	1	3	0	4	2	3	0	4	2	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr11:113286210C>T	uc001pnz.3	-	3	977	c.656G>A	c.(655-657)cGc>cAc	p.R219H	DRD2_uc010rwv.2_Missense_Mutation_p.R218H|DRD2_uc001poa.4_Missense_Mutation_p.R219H|DRD2_uc001pob.4_Missense_Mutation_p.R219H|DRD2_uc009yyr.1_Missense_Mutation_p.R219H	NM_000795	NP_000786	P14416	DRD2_HUMAN	Homo sapiens dopamine receptor D2 (DRD2), transcript variant 1, mRNA.	219	Interaction with PPP1R9B (By similarity).				activation of phospholipase C activity by dopamine receptor signaling pathway|adenohypophysis development|adult walking behavior|arachidonic acid secretion|axonogenesis|behavioral response to cocaine|behavioral response to ethanol|branching morphogenesis of a nerve|cerebral cortex GABAergic interneuron migration|circadian regulation of gene expression|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|intracellular protein kinase cascade|negative regulation of blood pressure|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of dopamine receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|negative regulation of synaptic transmission, glutamatergic|neurological system process involved in regulation of systemic arterial blood pressure|peristalsis|phosphatidylinositol metabolic process|positive regulation of dopamine uptake|positive regulation of growth hormone secretion|positive regulation of neuroblast proliferation|prepulse inhibition|protein localization|regulation of heart rate|regulation of long-term neuronal synaptic plasticity|regulation of potassium ion transport|regulation of sodium ion transport|regulation of synaptic transmission, GABAergic|release of sequestered calcium ion into cytosol|response to amphetamine|response to drug|response to histamine|response to morphine|sensory perception of smell|synapse assembly|temperature homeostasis|visual learning	integral to plasma membrane	dopamine D2 receptor activity|dopamine receptor activity, coupled via Gi/Go|drug binding|potassium channel regulator activity|protein binding	p.R219C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(18)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	39		all_cancers(61;3.91e-16)|all_epithelial(67;2.95e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000977)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0494)		BRCA - Breast invasive adenocarcinoma(274;5.77e-06)|Epithelial(105;6.66e-05)|all cancers(92;0.000307)|OV - Ovarian serous cystadenocarcinoma(223;0.216)	Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Carphenazine(DB01038)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Domperidone(DB01184)|Droperidol(DB00450)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Fluspirilene(DB04842)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Mesoridazine(DB00933)|Metoclopramide(DB01233)|Minaprine(DB00805)|Molindone(DB01618)|Olanzapine(DB00334)|Paliperidone(DB01267)|Pergolide(DB01186)|Perphenazine(DB00850)|Pimozide(DB01100)|Pramipexole(DB00413)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Remoxipride(DB00409)|Risperidone(DB00734)|Ropinirole(DB00268)|Sertindole(DB06144)|Sulpiride(DB00391)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Ziprasidone(DB00246)|Zuclopenthixol(DB01624)	TCGCTTGCGGCGTCTGCGGAG	0.572													T	113286210	C	T	113286210	3	4	166	1	0	0	0	0	1	0	0	0	4796	768	27	1	691	1	DRD2	11	113286210	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	38409323	113286210	21720306	47	11562											
GDF3	9573	broad.mit.edu	37	chr12	7842975	7842975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtatctccaggaataacccGaaatttttccgggggttgtc	10	12	10	9	2	1	0	0	0	1	0	4	2	2	1	3	3	1	2	3	3	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:7842975G>A	uc001qte.3	-	1	630	c.594C>T	c.(592-594)ttC>ttT	p.F198F		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	198					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGAATAACCCGAAATTTTTCC	0.473													A	7842975	G	A	7842975	2	1	166	1	0	0	0	0	0	0	0	1	6371	1049	37	1		1	GDF3	12	7842975	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08		7842975	126008920	48	11563											
ERP27	121506	broad.mit.edu	37	chr12	15070213	15070213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagatgaatctgaattaCgctgttgaataacccaatca	15	10	9	7	1	2	4	1	3	1	1	2	6	2	4	1	1	2	2	1	1	6	3	rs139573344	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:15070213C>T	uc001rco.3	-	4	496	c.475G>A	c.(475-477)Gta>Ata	p.V159I		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	159						endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						ATCTGAATTACGCTGTTGAAT	0.453													T	15070213	C	T	15070213	3	4	166	1	0	0	0	0	1	0	0	0	5282	536	19	1	358	1	ERP27	12	15070213	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	7227238	15070213	118781682	49	11564											
CPSF6	11052	broad.mit.edu	37	chr12	69645041	69645041	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caactgttggtgatgatgtgGgtaaaggagcagcaccaaat	13	9	13	6	0	0	2	0	2	0	0	0	3	0	3	1	3	3	4	1	3	4	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:69645041G>C	uc001sut.4	+	1	303	c.193G>C	c.(193-195)Ggt>Cgt	p.G65R	CPSF6_uc001suu.4_Missense_Mutation_p.G65R	NM_007007	NP_008938	Q16630	CPSF6_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 6, 68kDa (CPSF6), mRNA.	65					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			TGATGATGTGGGTAAAGGAGC	0.378													C	69645041	G	C	69645041	3	2	166	1	0	0	0	0	1	0	0	0	3860	1232	43	4	199	4	CPSF6	12	69645041	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	54574828	69645041	64206854	50	11565											
KIAA1033	23325	broad.mit.edu	37	chr12	105514968	105514968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcacactgaaagaccactgGactatgtacaaaaggtacac	17	7	7	10	0	1	2	1	1	0	1	1	3	1	3	1	2	2	2	1	2	6	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:105514968G>T	uc010swr.2	+	8	738	c.651G>T	c.(649-651)tgG>tgT	p.W217C	KIAA1033_uc001tld.3_Missense_Mutation_p.W217C|KIAA1033_uc010sws.2_Missense_Mutation_p.W29C	NM_015275	NP_056090	Q2M389	WAHS7_HUMAN	Homo sapiens KIAA1033 (KIAA1033), mRNA.	217					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAGACCACTGGACTATGTACA	0.299													T	105514968	G	T	105514968	3	4	166	1	0	0	0	0	1	0	0	0	8264	1183	41	4	685	4	KIAA1033	12	105514968	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	35869927	105514968	28336927	51	11566											
WSCD2	9671	broad.mit.edu	37	chr12	108603905	108603905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcccccaggggttacCtgtatggcgggctggagttc	5	9	14	13	1	0	0	0	0	0	0	2	1	1	1	4	5	2	4	4	5	2	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:108603905C>A	uc001tms.3	+	3	1249	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	WSCD2_uc001tmt.3_Missense_Mutation_p.L169M	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	169	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAGGGGTTACCTGTATGGCGG	0.647													A	108603905	C	A	108603905	3	1	166	1	0	0	0	0	1	0	0	0	17509	680	24	4	515	4	WSCD2	12	108603905	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	3088937	108603905	25247990	52	11567											
TMEM132D	121256	broad.mit.edu	37	chr12	129563144	129563144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggccctgttgcttcctgGgctgagctgcaaggagagtg	6	10	16	9	0	0	2	0	1	0	1	1	4	1	2	2	3	3	5	2	3	1	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:129563144G>A	uc009zyl.1	-	7	2378	c.2050C>T	c.(2050-2052)Cca>Tca	p.P684S	TMEM132D_uc001uia.2_Missense_Mutation_p.P222S	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	684						integral to membrane		p.P684A(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TTGCTTCCTGGGCTGAGCTGC	0.577													A	129563144	G	A	129563144	3	1	166	1	0	0	0	0	1	0	0	0	16147	1232	43	2	1257	2	TMEM132D	12	129563144	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	20959239	129563144	4288751	53	11568											
ANKLE2	23141	broad.mit.edu	37	chr12	133306704	133306704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcttctatgaggtctgcctCctgctccaaggggaaggcgc	6	9	14	12	1	2	1	0	1	2	0	4	2	4	2	3	5	2	2	3	5	3	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr12:133306704C>G	uc001ukx.2	-	10	2111	c.2044G>C	c.(2044-2046)Gag>Cag	p.E682Q	ANKLE2_uc009zyw.1_Missense_Mutation_p.E37Q	NM_015114	NP_055929	Q86XL3	ANKL2_HUMAN	Homo sapiens ankyrin repeat and LEM domain containing 2 (ANKLE2), mRNA.	682						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGGTCTGCCTCCTGCTCCAAG	0.572													G	133306704	C	G	133306704	3	3	166	1	0	0	0	0	1	0	0	0	633	864	30	4	784	4	ANKLE2	12	133306704	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	3743560	133306704	545191	54	11569											
SLC39A2	29986	broad.mit.edu	37	chr14	21469493	21469493	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggcagtgttctccataCtattattagctctcatgtcc	8	15	8	10	0	2	0	1	0	2	0	5	1	3	0	2	1	2	3	2	1	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr14:21469493C>T	uc001vyr.3	+	3	877	c.685C>T	c.(685-687)Cta>Tta	p.L229L	SLC39A2_uc001vys.3_Silent_p.L130L	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 2 (SLC39A2), transcript variant 1, mRNA.	229						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTTCTCCATACTATTATTAGC	0.567													T	21469493	C	T	21469493	2	4	166	1	0	0	0	0	0	0	0	1	14712	564	20	2		2	SLC39A2	14	21469493	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08		21469493	85880047	55	11570											
C15orf2	23742	broad.mit.edu	37	chr15	24921103	24921103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccccgctcccctgtcccGggacgcctccccgcccggtc	1	5	10	25	6	0	0	0	0	0	0	4	1	3	1	9	2	0	1	9	2	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:24921103G>A	uc001ywo.3	+	0	563	c.89G>A	c.(88-90)cGg>cAg	p.R30Q		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	30					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCCCTGTCCCGGGACGCCTCC	0.706													A	24921103	G	A	24921103	3	1	166	1	0	0	0	0	1	0	0	0	1797	1116	39	1	91	1	C15orf2	15	24921103	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		24921103	77610289	56	11571											
CHRNB4	1143	broad.mit.edu	37	chr15	78917630	78917630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgtacttccagtcctcaaCgacctgcaggcagacagagg	11	6	10	14	2	1	2	1	0	0	2	3	3	3	2	3	2	3	3	3	2	2	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78917630C>T	uc002bed.1	-	5	1454	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	CHRNB4_uc002bee.1_Silent_p.S121S|AX748237_uc002bef.1_5'Flank	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	448					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						CAGTCCTCAACGACCTGCAGG	0.607													T	78917630	C	T	78917630	3	4	166	1	0	0	0	0	1	0	0	0	3423	536	19	1	158	1	CHRNB4	15	78917630	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	53996527	78917630	23613762	57	11572											
CHRNB4	1143	broad.mit.edu	37	chr15	78922161	78922161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggtgcagttctgctggtcGaagggaaagtacttcacctc	9	10	13	9	1	2	0	1	0	1	0	4	2	2	1	1	3	3	4	1	3	3	3	rs80249872		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr15:78922161G>A	uc002bed.1	-	4	598	c.486C>T	c.(484-486)ttC>ttT	p.F162F	CHRNB4_uc002bee.1_Intron|CHRNB4_uc010blh.1_5'UTR	NM_000750	NP_000741	P30926	ACHB4_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 4 (CHRNB4), mRNA.	162					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TCTGCTGGTCGAAGGGAAAGT	0.552													A	78922161	G	A	78922161	2	1	166	1	0	0	0	0	0	0	0	1	3423	1049	37	1		1	CHRNB4	15	78922161	Silent	SNP	G	TCGA-19-5953-01B-12D-1845-08	4531	78922161	23609231	58	11573											
SEPT12	124404	broad.mit.edu	37	chr16	4833669	4833669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgcgcctgaaggcctctCgctcctccatggtcaggctg	4	9	11	17	2	2	1	1	1	1	0	5	1	4	1	5	3	1	2	5	3	1	0	rs140969211		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:4833669C>T	uc002cxq.3	-	5	875	c.611G>A	c.(610-612)cGa>cAa	p.R204Q	SEPT12_uc002cxr.3_Missense_Mutation_p.R158Q|SEPT12_uc010bty.3_Non-coding_Transcript	NM_144605	NP_653206	Q8IYM1	SEP12_HUMAN	Homo sapiens septin 12 (SEPT12), transcript variant 2, mRNA.	204					cell cycle|cell division	cleavage furrow|midbody|perinuclear region of cytoplasm|septin complex|spindle|stress fiber	GDP binding|GTP binding|phosphatidylinositol binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|skin(2)|stomach(3)	23						GAAGGCCTCTCGCTCCTCCAT	0.677													T	4833669	C	T	4833669	3	4	166	1	0	0	0	0	1	0	0	0	14155	884	31	1	485	1	SEPT12	16	4833669	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		4833669	85521084	59	11574											
ITGAD	3681	broad.mit.edu	37	chr16	31435264	31435264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaagggcaatctcagtttCggctgggtccgcgaggtgtg	6	10	16	9	3	1	1	1	1	1	0	4	2	2	1	1	4	0	3	1	4	2	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:31435264C>T	uc010cap.1	+	26	3196	c.3147C>T	c.(3145-3147)ttC>ttT	p.F1049F	ITGAD_uc002ebv.1_Silent_p.F1048F	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	1048					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTCAGTTTCGGCTGGGTCC	0.642													T	31435264	C	T	31435264	2	4	166	1	0	0	0	0	0	0	0	1	7942	883	31	1		1	ITGAD	16	31435264	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	26601595	31435264	58919489	60	11575											
C16orf78	123970	broad.mit.edu	37	chr16	49407930	49407930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagactgctgaagataggcGcatgtctgacctcacctgtg	10	9	12	10	1	2	4	1	2	1	2	2	5	2	4	2	1	1	2	2	1	3	1	rs144505396	byFrequency	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr16:49407930G>A	uc002efr.3	+	0	123	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_144602	NP_653203	Q8WTQ4	CP078_HUMAN	Homo sapiens chromosome 16 open reading frame 78 (C16orf78), mRNA.	27										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						GAAGATAGGCGCATGTCTGAC	0.512													A	49407930	G	A	49407930	3	1	166	1	0	0	0	0	1	0	0	0	1849	1087	38	1	82	1	C16orf78	16	49407930	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	17972666	49407930	40946823	61	11576											
NF1	4763	broad.mit.edu	37	chr17	29588751	29588751	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcataaagctgttggaagaCgaccttttgataagatggca	14	11	10	6	1	1	3	1	1	0	2	1	5	1	4	1	2	1	3	1	2	4	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:29588751C>T	uc002hgg.3	+	34	4983	c.4600C>T	c.(4600-4602)Cga>Tga	p.R1534*	NF1_uc002hgh.3_Nonsense_Mutation_p.R1513*|NF1_uc002hgi.1_Nonsense_Mutation_p.R546*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1534					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R1534*(6)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTGGAAGACGACCTTTTGA	0.413			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29588751	C	T	29588751	4	4	166	1	0	0	0	0	0	1	0	0	10432	528	19	1	4799	1	NF1	17	29588751	Nonsense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		29588751	51606459	62	11577											
KRT25	147183	broad.mit.edu	37	chr17	38904633	38904633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaccactatggctttggCtgggtctgagcattaaaaat	11	13	9	8	0	1	1	0	1	1	0	1	1	1	1	1	3	2	3	1	3	5	4			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:38904633C>T	uc002hve.3	-	7	1310	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	417	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				ATGGCTTTGGCTGGGTCTGAG	0.348													T	38904633	C	T	38904633	3	4	166	1	0	0	0	0	1	0	0	0	8520	797	28	2	107	2	KRT25	17	38904633	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	9315882	38904633	42290577	63	11578											
RAD51C	5889	broad.mit.edu	37	chr17	56809897	56809897	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaatgcacagtactgtttCaaatcaaagtcagtattatt	15	13	7	6	0	3	0	3	0	0	0	3	1	3	1	0	1	2	4	0	1	6	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:56809897C>G	uc002iwu.3	+	7	1060	c.1018C>G	c.(1018-1020)Caa>Gaa	p.Q340E	RAD51C_uc010woa.1_Missense_Mutation_p.Q340E|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	340					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity	p.Q340K(1)		upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGTACTGTTTCAAATCAAAGT	0.338								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				G	56809897	C	G	56809897	3	3	166	1	0	0	0	0	1	0	0	0	13076	827	29	4	1052	4	RAD51C	17	56809897	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	17905264	56809897	24385313	64	11579											
BAHCC1	57597	broad.mit.edu	37	chr17	79412126	79412126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgcagcacccgggccagctCcctgtgtactcgaggccgca	7	6	12	16	3	0	0	0	0	0	0	2	1	1	0	4	2	4	5	4	2	1	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr17:79412126C>T	uc002kaf.2	+	7	2571	c.2571C>T	c.(2569-2571)ctC>ctT	p.L857L	BAHCC1_uc002kae.2_Silent_p.L118L	NM_001080519	NP_001073988	Q9P281	BAHC1_HUMAN	Homo sapiens BAH domain and coiled-coil containing 1 (BAHCC1), mRNA.	919	Pro-rich.						DNA binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(5)|urinary_tract(1)	26	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0224)|OV - Ovarian serous cystadenocarcinoma(97;0.116)			CGGGCCAGCTCCCTGTGTACT	0.697													T	79412126	C	T	79412126	2	4	166	1	0	0	0	0	0	0	0	1	1301	842	30	2		2	BAHCC1	17	79412126	Silent	SNP	C	TCGA-19-5953-01B-12D-1845-08	22602229	79412126	1783084	65	11580											
LAMA1	284217	broad.mit.edu	37	chr18	7011448	7011448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttactctgagaaaccacacGcagaagaggctgatcggagc	13	6	12	10	2	1	4	0	2	1	3	2	6	1	5	1	2	3	3	1	2	3	1			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:7011448G>A	uc002knm.3	-	24	3632	c.3538C>T	c.(3538-3540)Cgt>Tgt	p.R1180C	LAMA1_uc010wzj.2_Missense_Mutation_p.R656C	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1180	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAACCACACGCAGAAGAGGC	0.552													A	7011448	G	A	7011448	3	1	166	1	0	0	0	0	1	0	0	0	8664	1087	38	1	5845	1	LAMA1	18	7011448	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		7011448	71065800	66	11581											
MIB1	57534	broad.mit.edu	37	chr18	19358097	19358097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaggatgccaagggaGgttctttctacagagatcac	10	10	12	9	0	3	1	1	0	2	1	4	4	4	3	2	3	2	1	2	3	2	3			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:19358097G>A	uc002ktq.3	+	4	670	c.670G>A	c.(670-672)Ggt>Agt	p.G224S	MIB1_uc002ktp.3_5'UTR	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	224					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			TGCCAAGGGAGGTTCTTTCTA	0.403													A	19358097	G	A	19358097	3	1	166	1	0	0	0	0	1	0	0	0	9641	1000	35	2	688	2	MIB1	18	19358097	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	12346649	19358097	58719151	67	11582											
DSG3	1830	broad.mit.edu	37	chr18	29039054	29039054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagaaaccacttatactaaCggttaaaattttggatatta	17	13	6	5	1	0	1	0	0	0	1	0	3	0	2	1	2	3	1	1	2	8	8	rs62095186		TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr18:29039054C>T	uc002kws.3	+	4	540	c.431C>T	c.(430-432)aCg>aTg	p.T144M		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	144	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTTATACTAACGGTTAAAATT	0.358													T	29039054	C	T	29039054	3	4	166	1	0	0	0	0	1	0	0	0	4817	536	19	1	449	1	DSG3	18	29039054	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08	9680957	29039054	49038194	68	11583											
RPSA	388524	broad.mit.edu	37	chr19	24010322	24010322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccttctgggagccacGgcttcttgtggttactgacc	5	11	13	12	1	2	1	0	1	2	0	2	2	2	2	3	4	3	3	3	4	1	4	rs13343419	by1000genomes	TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr19:24010322G>A	uc002nrn.3	+	3	782	c.359G>A	c.(358-360)cGg>cAg	p.R120Q		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	120					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		TGGGAGCCACGGCTTCTTGTG	0.552													A	24010322	G	A	24010322	3	1	166	1	0	0	0	0	1	0	0	0	13754	1131	39	1		1	RPSA	19	24010322	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		24010322	35118661	69	11584											
COL6A1	1291	broad.mit.edu	37	chr21	47423347	47423347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcaccatcctgctggacgGctccgccagcgtgggcagcc	6	6	12	17	3	1	0	1	0	0	0	3	1	3	1	5	3	3	3	5	3	0	0			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr21:47423347G>A	uc002zhu.1	+	34	2609	c.2507G>A	c.(2506-2508)gGc>gAc	p.G836D	COL6A1_uc002zhv.1_Missense_Mutation_p.G167D	NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	836	C-terminal globular domain.|VWFA 3.			DGSAS -> EPPPD (in Ref. 1; CAA33889).	axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTGCTGGACGGCTCCGCCAGC	0.692													A	47423347	G	A	47423347	3	1	166	1	0	0	0	0	1	0	0	0	3730	1203	42	2	2645	2	COL6A1	21	47423347	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08		47423347	706548	70	11585											
SLC5A4	6527	broad.mit.edu	37	chr22	32628993	32628993	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcacgtgagacatgtccTtgccacacaggcagcgctgc	8	8	10	15	2	1	1	1	1	0	1	2	2	2	1	3	1	3	2	3	1	0	2			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chr22:32628993T>G	uc003ami.3	-	8	916	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	305					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						AGACATGTCCTTGCCACACAG	0.557													G	32628993	T	G	32628993	3	3	166	1	0	0	0	0	1	0	0	0	14761	1609	56	5	1093	5	SLC5A4	22	32628993	Missense_Mutation	SNP	T	TCGA-19-5953-01B-12D-1845-08		32628993	18675573	71	11586											
FAM47A	158724	broad.mit.edu	37	chrX	34150044	34150044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcttccacttgctctaCgaacgccttccgtgctagct	5	12	9	15	3	1	0	0	0	1	0	3	1	3	0	3	1	5	4	3	1	3	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:34150044C>T	uc004ddg.3	-	0	404	c.352G>A	c.(352-354)Gta>Ata	p.V118I		NM_203408	NP_981953	Q5JRC9	FA47A_HUMAN	Homo sapiens family with sequence similarity 47, member A (FAM47A), mRNA.	118								p.V118I(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTTGCTCTACGAACGCCTTC	0.547													T	34150044	C	T	34150044	3	4	166	1	0	0	0	0	1	0	0	0	5620	536	19	1	2027	1	FAM47A	23	34150044	Missense_Mutation	SNP	C	TCGA-19-5953-01B-12D-1845-08		34150044	121120516	72	11587											
ZNF711	7552	broad.mit.edu	37	chrX	84526085	84526085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgtgttgagtgtgggaagGgttttcgacatccttctgaa	7	16	13	5	1	1	2	0	2	1	0	3	4	2	3	1	2	0	2	1	2	2	5			TCGA-19-5953-01B-12D-1845-08	TCGA-19-5953-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a0180465-3685-4735-a76e-acbeebfa635a	ee331f5d-4cef-4c7e-9c0e-16efd5ff3417	g.chrX:84526085G>A	uc004eeq.3	+	9	2561	c.1675G>A	c.(1675-1677)Ggt>Agt	p.G559S	ZNF711_uc004eep.3_Missense_Mutation_p.G513S|ZNF711_uc004eeo.3_Missense_Mutation_p.G513S|ZNF711_uc011mqy.1_Missense_Mutation_p.G112S	NM_021998	NP_068838	Q9Y462	ZN711_HUMAN	Homo sapiens zinc finger protein 711 (ZNF711), mRNA.	513					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						GTGTGGGAAGGGTTTTCGACA	0.413													A	84526085	G	A	84526085	3	1	166	1	0	0	0	0	1	0	0	0	18217	1232	43	2	1563	2	ZNF711	23	84526085	Missense_Mutation	SNP	G	TCGA-19-5953-01B-12D-1845-08	50376041	84526085	70744475	73	11588											
GABRD	2563	broad.mit.edu	37	chr1	1961508	1961508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcccgccggcagcgccgCgtcccggggaacctgatggg	5	5	15	16	6	1	1	0	1	1	0	3	2	2	2	5	4	2	1	5	4	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:1961508C>T	uc001aip.2	+	8	1241	c.1146C>T	c.(1144-1146)cgC>cgT	p.R382R		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	382						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGCAGCGCCGCGTCCCGGGGA	0.692													T	1961508	C	T	1961508	2	4	167	1	0	0	0	0	0	0	0	1	6221	755	27	1		1	GABRD	1	1961508	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		1961508	247289113	1	11589											
DNAJC11	55735	broad.mit.edu	37	chr1	6704720	6704720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgtactccaccaccgtcCcaaagaagcctgctctgcag	9	7	7	18	2	1	1	0	0	1	1	4	1	4	1	6	0	4	3	6	0	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:6704720C>T	uc001aof.2	-	9	1101	c.995G>A	c.(994-996)gGg>gAg	p.G332E	DNAJC11_uc001aog.2_Missense_Mutation_p.G332E|DNAJC11_uc010nzu.1_Missense_Mutation_p.G242E	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	332					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CACCACCGTCCCAAAGAAGCC	0.562													T	6704720	C	T	6704720	3	4	167	1	0	0	0	0	1	0	0	0	4669	623	22	2	712	2	DNAJC11	1	6704720	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	4743212	6704720	242545901	2	11590											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998781	7998781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatctttgaactcatacCtttacactgcctgcatatgt	12	15	4	10	0	2	1	1	1	1	0	2	1	2	1	2	0	5	1	2	0	6	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:7998781C>A	uc001aot.3	-	4	469	c.208_splice	c.e4+1	p.G70_splice		NM_001561	NP_001552	Q07011	TNR9_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 9 (TNFRSF9), mRNA.	70					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398													A	7998781	C	A	7998781	3	1	167	1	0	0	0	0	1	0	0	0	16400	695	24	4	583	4	TNFRSF9	1	7998781	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	1294061	7998781	241251840	3	11591											
FBLIM1	54751	broad.mit.edu	37	chr1	16095074	16095074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcccctcaggcccatggagGaagagctgccacctcccccg	7	5	11	18	1	1	1	1	0	0	1	3	3	3	3	7	3	2	1	7	3	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:16095074G>A	uc001axd.1	+	5	933	c.490G>A	c.(490-492)Gaa>Aaa	p.E164K	FBLIM1_uc001axe.1_Missense_Mutation_p.E164K|FBLIM1_uc001axg.1_Missense_Mutation_p.E164K|FBLIM1_uc001axh.1_Intron|FBLIM1_uc001axi.1_Intron	NM_017556	NP_060026	Q8WUP2	FBLI1_HUMAN	Homo sapiens filamin binding LIM protein 1 (FBLIM1), transcript variant 1, mRNA.	164	Pro-rich.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GCCCATGGAGGAAGAGCTGCC	0.652													A	16095074	G	A	16095074	3	1	167	1	0	0	0	0	1	0	0	0	5746	1175	41	2	500	2	FBLIM1	1	16095074	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	8096293	16095074	233155547	4	11592											
C1orf38	9473	broad.mit.edu	37	chr1	28208484	28208484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcccctctccacagtgCgcaggaccattgtcaagatc	9	8	9	15	1	2	1	1	0	1	1	4	2	2	2	4	1	3	2	4	1	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:28208484C>T	uc001bpc.4	+	3	677	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	C1orf38_uc001bpa.3_Intron|C1orf38_uc001boz.3_Intron|C1orf38_uc010ofn.2_Intron|C1orf38_uc010ofo.2_Missense_Mutation_p.R217C	NM_001105556	NP_001099026	Q5TEJ8	THMS2_HUMAN	Homo sapiens chromosome 1 open reading frame 38 (C1orf38), transcript variant 3, mRNA.	217	CABIT 1.				cell adhesion|inflammatory response					endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8		Colorectal(325;3.46e-05)|all_lung(284;0.000129)|Lung NSC(340;0.000259)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;2.52e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0649)		CTCCACAGTGCGCAGGACCAT	0.652													T	28208484	C	T	28208484	3	4	167	1	0	0	0	0	1	0	0	0	2060	768	27	1	663	1	C1orf38	1	28208484	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	12113410	28208484	221042137	5	11593											
FLG	2312	broad.mit.edu	37	chr1	152276552	152276552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccaccagaggaattctCtgcatgatgagtgcctgatt	9	12	10	10	0	1	4	0	3	1	1	3	5	2	5	3	1	2	1	3	1	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152276552C>T	uc001ezu.1	-	2	10846	c.10810G>A	c.(10810-10812)Gag>Aag	p.E3604K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3604	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis				T	152276552	C	T	152276552	3	4	167	1	0	0	0	0	1	0	0	0	5971	922	32	2	1379	2	FLG	1	152276552	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	124068068	152276552	96974069	6	11594											
FLG	2312	broad.mit.edu	37	chr1	152280440	152280440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccaccagaggaattctCtgcatgatgagtgcctgatt	9	12	10	10	0	1	4	0	3	1	1	3	5	2	5	3	1	2	1	3	1	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:152280440C>T	uc001ezu.1	-	2	6958	c.6922G>A	c.(6922-6924)Gag>Aag	p.E2308K		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2308	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAATTCTCTGCATGATGA	0.562									Ichthyosis				T	152280440	C	T	152280440	3	4	167	1	0	0	0	0	1	0	0	0	5971	922	32	2	5267	2	FLG	1	152280440	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	3888	152280440	96970181	7	11595											
SEC16B	89866	broad.mit.edu	37	chr1	177936906	177936906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcctggatgcataatGgggctgctgctgatggtctg	5	11	15	10	0	1	1	0	1	1	0	1	2	1	2	2	5	3	4	2	5	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:177936906G>T	uc001glj.1	-	6	1077	c.211C>A	c.(211-213)Cat>Aat	p.H71N	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.H71N|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.H71N	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	71	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GATGCATAATGGGGCTGCTGC	0.542													T	177936906	G	T	177936906	3	4	167	1	0	0	0	0	1	0	0	0	14080	1348	47	4	3071	4	SEC16B	1	177936906	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	25656466	177936906	71313715	8	11596											
LAMB3	3914	broad.mit.edu	37	chr1	209791966	209791966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagggccagcacggcctCgctgacctcctggatagtgg	7	6	13	15	2	0	1	0	1	0	0	2	2	1	2	5	4	1	2	5	4	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:209791966C>T	uc001hhg.3	-	17	3130	c.2740G>A	c.(2740-2742)Gag>Aag	p.E914K	LAMB3_uc009xco.3_Missense_Mutation_p.E914K|LAMB3_uc001hhh.3_Missense_Mutation_p.E914K	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	914	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		AGCACGGCCTCGCTGACCTCC	0.582													T	209791966	C	T	209791966	3	4	167	1	0	0	0	0	1	0	0	0	8671	893	31	1	798	1	LAMB3	1	209791966	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	31855060	209791966	39458655	9	11597											
CENPF	1063	broad.mit.edu	37	chr1	214819178	214819178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattatgaaaagctgaatGtctccaaggccttggaggcc	12	9	11	9	0	1	3	0	2	1	1	2	4	1	4	3	3	1	1	3	3	5	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr1:214819178G>A	uc001hkm.3	+	12	6439	c.6265G>A	c.(6265-6267)Gtc>Atc	p.V2089I		NM_016343	NP_057427	P49454	CENPF_HUMAN	Homo sapiens centromere protein F, 350/400kDa (mitosin) (CENPF), mRNA.	2185					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAAGCTGAATGTCTCCAAGGC	0.473													A	214819178	G	A	214819178	3	1	167	1	0	0	0	0	1	0	0	0	3261	1377	48	2	6311	2	CENPF	1	214819178	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	5027212	214819178	34431443	10	11598											
ADCY3	109	broad.mit.edu	37	chr2	25141642	25141642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtctcgtggcgctgcCttttgaagtaggtctggtag	5	12	16	8	2	2	1	0	1	2	0	3	1	2	1	1	4	1	4	1	4	3	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:25141642C>T	uc010ykm.2	-	0	414	c.215G>A	c.(214-216)aGg>aAg	p.R72K	ADCY3_uc002rfs.4_Missense_Mutation_p.R72K	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	72					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GTGGCGCTGCCTTTTGAAGTA	0.597													T	25141642	C	T	25141642	3	4	167	1	0	0	0	0	1	0	0	0	295	681	24	2	3303	2	ADCY3	2	25141642	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		25141642	218057731	11	11599											
UXS1	80146	broad.mit.edu	37	chr2	106710571	106710571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtactcgagttctttacGgaagtagtgaattgctttgt	8	16	11	6	2	1	1	0	1	1	0	2	3	1	2	0	2	3	4	0	2	5	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:106710571G>A	uc002tdm.3	-	14	1272	c.1174C>T	c.(1174-1176)Cgt>Tgt	p.R392C	UXS1_uc002tdk.3_Missense_Mutation_p.R190C|UXS1_uc002tdl.3_Missense_Mutation_p.R224C|UXS1_uc002tdn.3_Missense_Mutation_p.R397C|UXS1_uc002tdo.3_Missense_Mutation_p.R335C	NM_025076	NP_079352	Q8NBZ7	UXS1_HUMAN	Homo sapiens UDP-glucuronate decarboxylase 1 (UXS1), transcript variant 2, mRNA.	392					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						AGTTCTTTACGGAAGTAGTGA	0.468													A	106710571	G	A	106710571	3	1	167	1	0	0	0	0	1	0	0	0	17211	1116	39	1	92	1	UXS1	2	106710571	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	81568929	106710571	136488802	12	11600											
TUBA3D	113457	broad.mit.edu	37	chr2	132238151	132238151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgagatcaccaatgcctgCttcgagccagccaatcaaat	12	7	8	14	2	2	1	2	0	0	1	3	3	2	1	5	0	4	1	5	0	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:132238151C>T	uc002tsu.4	+	3	1078	c.885C>T	c.(883-885)tgC>tgT	p.C295C		NM_080386	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3d (TUBA3D), mRNA.	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CCAATGCCTGCTTCGAGCCAG	0.597													T	132238151	C	T	132238151	2	4	167	1	0	0	0	0	0	0	0	1	16849	805	28	2		2	TUBA3D	2	132238151	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	25527580	132238151	110961222	13	11601											
HOXD9	3235	broad.mit.edu	37	chr2	176988850	176988850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatctggtttcagaacCgtaggatgaaaatgaaaaag	18	9	9	5	1	3	3	2	2	1	1	3	4	3	4	1	2	1	2	1	2	8	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:176988850C>A	uc010zex.2	+	1	1090	c.1006C>A	c.(1006-1008)Cgt>Agt	p.R336S		NM_014213	NP_055028	P28356	HXD9_HUMAN	Homo sapiens homeobox D9 (HOXD9), mRNA.	336						nucleus	sequence-specific DNA binding	p.E336D(1)		endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0226)|READ - Rectum adenocarcinoma(9;0.0556)		GTTTCAGAACCGTAGGATGAA	0.532													A	176988850	C	A	176988850	3	1	167	1	0	0	0	0	1	0	0	0	7381	652	23	4	1012	4	HOXD9	2	176988850	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	44750699	176988850	66210523	14	11602											
AOX1	316	broad.mit.edu	37	chr2	201478599	201478599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccttttgggctcggcGccaggtgggaaagtggagtt	5	11	16	9	2	1	0	0	0	1	0	3	2	1	2	2	5	0	2	2	5	1	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr2:201478599G>A	uc002uvx.3	+	14	1622	c.1521G>A	c.(1519-1521)gcG>gcA	p.A507A	AOX1_uc010zhf.2_Silent_p.A63A|AOX1_uc010fsu.3_5'UTR	NM_001159	NP_001150	Q06278	ADO_HUMAN	Homo sapiens aldehyde oxidase 1 (AOX1), mRNA.	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507A(2)|p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TGGGCTCGGCGCCAGGTGGGA	0.468													A	201478599	G	A	201478599	2	1	167	1	0	0	0	0	0	0	0	1	731	1074	38	1		1	AOX1	2	201478599	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	24489749	201478599	41720774	15	11603											
GRIP2	80852	broad.mit.edu	37	chr3	14552933	14552933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctacctgtgtgccacgCtgcctttcttgatgtcggag	4	12	11	14	2	1	1	0	1	1	0	2	2	1	2	5	1	3	1	5	1	1	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:14552933C>T	uc021wtn.1	-	16	2063	c.2063G>A	c.(2062-2064)aGc>aAc	p.S688N	GRIP2_uc010heh.3_Non-coding_Transcript	NM_001080423	NP_001073892	Q9C0E4	GRIP2_HUMAN	Homo sapiens glutamate receptor interacting protein 2 (GRIP2), mRNA.	592	PDZ 6.				synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GTGTGCCACGCTGCCTTTCTT	0.597													T	14552933	C	T	14552933	3	4	167	1	0	0	0	0	1	0	0	0	6843	797	28	2	1395	2	GRIP2	3	14552933	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		14552933	183469497	16	11604											
TRIM71	131405	broad.mit.edu	37	chr3	32915463	32915463	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagatgcccagcagggaCgacaggcaatccaggtgagc	11	4	15	11	1	0	2	0	1	0	1	1	4	1	3	2	4	3	3	2	4	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:32915463C>T	uc003cff.3	+	1	1069	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	336					multicellular organismal development	cytoplasm	zinc ion binding	p.R336fs*6(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGCAGGGACGACAGGCAAT	0.612													T	32915463	C	T	32915463	4	4	167	1	0	0	0	0	0	1	0	0	16645	528	19	1	1012	1	TRIM71	3	32915463	Nonsense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	18362530	32915463	165106967	17	11605											
MINA	84864	broad.mit.edu	37	chr3	97686291	97686291	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaaaagtctctgtcttGatgggcgagattaaactttc	12	14	9	6	1	2	3	0	2	2	1	4	4	2	3	0	1	1	0	0	1	5	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:97686291G>T	uc003drz.1	-	1	653	c.147C>A	c.(145-147)atC>atA	p.I49I	MINA_uc003dsa.1_Silent_p.I49I|MINA_uc003dsb.1_Silent_p.I49I|MINA_uc003dsc.1_Silent_p.I49I|MINA_uc010hpa.1_Non-coding_Transcript|MINA_uc010hpb.1_Intron	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	49					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TCTCTGTCTTGATGGGCGAGA	0.488													T	97686291	G	T	97686291	2	4	167	1	0	0	0	0	0	0	0	1	9661	1280	45	4		4	MINA	3	97686291	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	64770828	97686291	100336139	18	11606											
ALCAM	214	broad.mit.edu	37	chr3	105238918	105238918	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccccaaaggccttggAtggtatactgtaaattcagc	10	13	8	10	0	1	0	1	0	0	0	2	1	2	1	3	3	2	2	3	3	5	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:105238918A>T	uc003dvx.3	+	1	777	c.81A>T	c.(79-81)ggA>ggT	p.G27G	ALCAM_uc003dvv.3_Silent_p.G27G|ALCAM_uc003dvw.2_Silent_p.G27G|ALCAM_uc003dvy.3_Silent_p.G27G|ALCAM_uc011bhh.1_5'UTR	NM_001627	NP_001618	Q13740	CD166_HUMAN	Homo sapiens activated leukocyte cell adhesion molecule (ALCAM), transcript variant 1, mRNA.	27					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AAGGCCTTGGATGGTATACTG	0.358													T	105238918	A	T	105238918	2	4	167	1	0	0	0	0	0	0	0	1	487	320	12	5		5	ALCAM	3	105238918	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	7552627	105238918	92783512	19	11607											
BCHE	590	broad.mit.edu	37	chr3	165503999	165503999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgagcacgtagtttcgTcattattcttgttgactctg	6	19	9	7	2	3	2	1	2	2	0	4	2	3	2	0	0	1	5	0	0	2	8			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:165503999T>C	uc003fem.4	-	2	1778	c.1618A>G	c.(1618-1620)Acg>Gcg	p.T540A	BCHE_uc003fen.4_Non-coding_Transcript	NM_000055	NP_000046	P06276	CHLE_HUMAN	Homo sapiens butyrylcholinesterase (BCHE), mRNA.	540					choline metabolic process|cocaine metabolic process|synaptic transmission, cholinergic	endoplasmic reticulum lumen|extracellular space|membrane	acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|enzyme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Ambenonium(DB01122)|Atropine(DB00572)|Bambuterol(DB01408)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinnarizine(DB00568)|Demecarium bromide(DB00944)|Dibucaine(DB00527)|Donepezil(DB00843)|Echothiophate Iodide(DB01057)|Edrophonium(DB01010)|Ethopropazine(DB00392)|Etomidate(DB00292)|Galantamine(DB00674)|Hexafluronium bromide(DB00941)|Isoflurophate(DB00677)|Mefloquine(DB00358)|Mivacurium(DB01226)|Neostigmine(DB01400)|Pancuronium(DB01337)|Pralidoxime(DB00733)|Procainamide(DB01035)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Terbutaline(DB00871)|Trimethaphan(DB01116)	CGTAGTTTCGTCATTATTCTT	0.363													C	165503999	T	C	165503999	3	2	167	1	0	0	0	0	1	0	0	0	1363	1667	58	3	198	3	BCHE	3	165503999	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	60265081	165503999	32518431	20	11608											
PIK3CA	5290	broad.mit.edu	37	chr3	178916623	178916623	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagaacaatgcctccaCgaccatcatcaggtgaactg	14	7	8	12	1	3	2	3	1	0	1	4	4	4	2	3	1	3	0	3	1	4	0	rs1051397		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916623C>T	uc003fjk.3	+	1	167	c.10C>T	c.(10-12)Cga>Tga	p.R4*		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	4					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGCCTCCACGACCATCATC	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178916623	C	T	178916623	4	4	167	1	0	0	0	0	0	1	0	0	11990	528	19	1	12	1	PIK3CA	3	178916623	Nonsense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	13412624	178916623	19105807	21	11609											
PIK3CA	5290	broad.mit.edu	37	chr3	178916945	178916945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaggcaaccgtgaagaaaAgatcctcaatcgagaaattg	17	7	10	7	2	1	4	1	1	0	3	3	5	2	4	2	1	1	2	2	1	7	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr3:178916945A>G	uc003fjk.3	+	1	489	c.332A>G	c.(331-333)aAg>aGg	p.K111R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111N(13)|p.K111E(12)|p.E110K(4)|p.K111_L113delKIL(3)|p.K111R(2)|p.K111del(2)|p.K111_I112>N(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CGTGAAGAAAAGATCCTCAAT	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916945	A	G	178916945	3	3	167	1	0	0	0	0	1	0	0	0	11990	72	3	3	334	3	PIK3CA	3	178916945	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	322	178916945	19105485	22	11610											
WDR1	9948	broad.mit.edu	37	chr4	10099515	10099515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggaagactgctccaaaCcttgacccaatgacacaggt	14	6	9	12	0	0	4	0	2	0	2	1	5	1	5	3	2	2	1	3	2	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:10099515C>T	uc021xlv.1	-	5	661	c.378_splice	c.e5-1	p.K126_splice	WDR1_uc021xlw.1_Intron	NM_017491	NP_059830	O75083	WDR1_HUMAN	Homo sapiens WD repeat domain 1 (WDR1), transcript variant 1, mRNA.	126					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CTGCTCCAAACCTTGACCCAA	0.478													T	10099515	C	T	10099515	2	4	167	1	0	0	0	0	0	0	0	1	17374	521	18	2		2	WDR1	4	10099515	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		10099515	181054761	23	11611											
CDKL2	8999	broad.mit.edu	37	chr4	76539498	76539498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaatacttttgaactaCttggtagtctagtccatttg	13	15	6	7	0	1	1	0	1	1	0	2	1	2	1	1	1	4	1	1	1	7	8			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr4:76539498C>G	uc011cbp.2	-	2	829	c.304G>C	c.(304-306)Gta>Cta	p.V102L	CDKL2_uc003hiq.3_Missense_Mutation_p.V102L|CDKL2_uc010iix.1_Intron	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	102	Protein kinase.				sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTTTGAACTACTTGGTAGTCT	0.313													G	76539498	C	G	76539498	3	3	167	1	0	0	0	0	1	0	0	0	3184	565	20	4	1213	4	CDKL2	4	76539498	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	66439983	76539498	114614778	24	11612											
HTR1A	3350	broad.mit.edu	37	chr5	63256355	63256355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagtatgcgtaaatgaCggggttaagcagagagttgg	12	10	16	3	2	0	3	0	2	0	1	0	4	0	3	0	3	2	6	0	3	5	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:63256355C>T	uc011cqt.2	-	0	1192	c.1192G>A	c.(1192-1194)Gtc>Atc	p.V398I		NM_000524	NP_000515	P08908	5HT1A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1A (HTR1A), mRNA.	398					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	p.P397H(1)|p.P397P(1)|p.P397T(1)|p.P397N(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCGTAAATGACGGGGTTAAGC	0.517													T	63256355	C	T	63256355	3	4	167	1	0	0	0	0	1	0	0	0	7494	536	19	1	79	1	HTR1A	5	63256355	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		63256355	117658905	25	11613											
GPR98	84059	broad.mit.edu	37	chr5	90049615	90049615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgggctggcgtgctgcGtctgtcttcattagagtagc	4	14	15	8	2	3	1	1	0	2	1	3	1	3	1	0	3	3	3	0	3	2	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:90049615G>A	uc003kju.3	+	53	11442	c.11346G>A	c.(11344-11346)gcG>gcA	p.A3782A	GPR98_uc003kjt.3_Silent_p.A1488A|GPR98_uc003kjv.3_Silent_p.A1382A	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3782					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGCGTGCTGCGTCTGTCTTCA	0.368													A	90049615	G	A	90049615	2	1	167	1	0	0	0	0	0	0	0	1	6776	1132	40	1		1	GPR98	5	90049615	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	26793260	90049615	90865645	26	11614											
PCDHAC2	56140	broad.mit.edu	37	chr5	140222810	140222810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagatcagcaccactcGtgtcctggacgaagcggact	9	6	14	12	4	1	1	1	0	0	1	3	5	2	3	2	3	2	1	2	3	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:140222810G>A	uc003lhs.2	+	0	1904	c.1904G>A	c.(1903-1905)cGt>cAt	p.R635H	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.R635H	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	646	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCACCACTCGTGTCCTGGAC	0.647													A	140222810	G	A	140222810	3	1	167	1	0	0	0	0	1	0	0	0	11609	1145	40	1		1	PCDHAC2	5	140222810	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	50173195	140222810	40692450	27	11615											
KIF4B	285643	broad.mit.edu	37	chr5	154395782	154395782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaaaaaaggaatctcGggagaatccacctcctaaac	19	5	7	10	1	1	2	0	0	1	2	4	4	3	3	3	2	1	0	3	2	8	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr5:154395782G>A	uc010jih.1	+	0	2523	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	788	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAGGAATCTCGGGAGAATCCA	0.438													A	154395782	G	A	154395782	3	1	167	1	0	0	0	0	1	0	0	0	8362	1116	39	1	2365	1	KIF4B	5	154395782	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	14172972	154395782	26519478	28	11616											
ME1	4199	broad.mit.edu	37	chr6	84056027	84056027	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtctcccaagccaagaatAcgctctccatcagtcaccac	12	7	6	16	1	4	1	2	0	2	1	6	1	4	1	4	1	2	1	4	1	4	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:84056027A>G	uc003pjy.3	-	4	730	c.465T>C	c.(463-465)cgT>cgC	p.R155R	ME1_uc011dzb.2_Silent_p.R80R|ME1_uc011dzc.2_5'UTR	NM_002395	NP_002386	P48163	MAOX_HUMAN	Homo sapiens malic enzyme 1, NADP(+)-dependent, cytosolic (ME1), mRNA.	155					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	AGCCAAGAATACGCTCTCCAT	0.428													G	84056027	A	G	84056027	2	3	167	1	0	0	0	0	0	0	0	1	9492	378	14	3		3	ME1	6	84056027	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08		84056027	87059040	29	11617											
PRDM13	59336	broad.mit.edu	37	chr6	100062503	100062503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgccaaagcgggcgaCggcccgggtgccgagcccgg	5	3	17	16	7	0	0	0	0	0	0	1	2	0	0	4	4	4	1	4	4	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:100062503C>T	uc003pqg.1	+	3	2253	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D		NM_021620	NP_067633	Q9H4Q3	PRD13_HUMAN	Homo sapiens PR domain containing 13 (PRDM13), mRNA.	664					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		AAGCGGGCGACGGCCCGGGTG	0.687													T	100062503	C	T	100062503	2	4	167	1	0	0	0	0	0	0	0	1	12540	535	19	1		1	PRDM13	6	100062503	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	16006476	100062503	71052564	30	11618											
DSE	29940	broad.mit.edu	37	chr6	116720360	116720360	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttttatctcacgtaGgatctttcgaagatggtttg	7	19	8	7	2	2	1	1	0	2	1	5	3	3	2	1	2	0	2	1	2	3	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:116720360G>A	uc011ebg.2	+	2	104	c.5_splice	c.e2-1	p.G2_splice	DSE_uc011ebf.1_Splice_Site|DSE_uc003pwq.1_Splice_Site|DSE_uc003pws.3_Splice_Site|DSE_uc003pwt.3_Splice_Site	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	0					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		ATCTCACGTAGGATCTTTCGA	0.433													A	116720360	G	A	116720360	5	1	167	1	0	0	0	0	0	0	1	0	4813	1014	35	2		2	DSE	6	116720360	Splice_Site	SNP	G	TCGA-19-5954-01A-11D-1696-08	16657857	116720360	54394707	31	11619											
C6orf170	221322	broad.mit.edu	37	chr6	121427228	121427228	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagaggcaactcagcctTcagtagcatttcaatataat	15	10	6	10	0	3	1	3	0	0	1	3	1	3	1	1	1	3	3	1	1	6	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:121427228T>A	uc003pyo.1	-	29	3474	c.3406A>T	c.(3406-3408)Aag>Tag	p.K1136*		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1136	Rab-GAP TBC.				multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AACTCAGCCTTCAGTAGCATT	0.393													A	121427228	T	A	121427228	4	1	167	1	0	0	0	0	0	1	0	0	2366	1792	62	5	379	5	C6orf170	6	121427228	Nonsense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	4706868	121427228	49687839	32	11620											
SYNE1	23345	broad.mit.edu	37	chr6	152660497	152660497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgcaaagctctgaagtgtTtgacctggaaaaggcagtta	12	11	11	7	0	1	2	0	2	1	0	1	3	1	3	1	2	2	5	1	2	5	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr6:152660497T>C	uc021zhb.1	-	72	12453	c.12230A>G	c.(12229-12231)aAa>aGa	p.K4077R	SYNE1_uc003qot.4_Missense_Mutation_p.K4006R|SYNE1_uc003qou.4_Missense_Mutation_p.K4077R|SYNE1_uc010kja.2_Missense_Mutation_p.K782R	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	4077					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)		TCTGAAGTGTTTGACCTGGAA	0.403										HNSCC(10;0.0054)			C	152660497	T	C	152660497	3	2	167	1	0	0	0	0	1	0	0	0	15542	1841	64	3	14524	3	SYNE1	6	152660497	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	31233269	152660497	18454570	33	11621											
SNX13	23161	broad.mit.edu	37	chr7	17861198	17861198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgataggttttccacatctcCtcactgtttaggttgcgccg	6	14	9	12	3	2	0	1	0	1	0	4	1	3	0	3	2	1	3	3	2	2	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:17861198C>T	uc003stv.3	-	17	1992	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E	SNX13_uc010kuc.3_Silent_p.E390E|SNX13_uc003stw.1_Silent_p.E604E|SNX13_uc010kub.3_5'UTR	NM_015132	NP_055947	Q9Y5W8	SNX13_HUMAN	Homo sapiens sorting nexin 13 (SNX13), mRNA.	604	PX.				cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					TCCACATCTCCTCACTGTTTA	0.413													T	17861198	C	T	17861198	2	4	167	1	0	0	0	0	0	0	0	1	14978	680	24	2		2	SNX13	7	17861198	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08		17861198	141277465	34	11622											
CHN2	1124	broad.mit.edu	37	chr7	29407583	29407583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggcacctcgtcccaagAgaatcatttgtcctcgggag	11	8	11	11	2	1	2	1	0	0	2	5	4	3	3	3	2	0	1	3	2	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:29407583A>G	uc003szz.3	+	2	561	c.124A>G	c.(124-126)Aga>Gga	p.R42G	CHN2_uc011jzs.2_Missense_Mutation_p.R117G|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R55G|CHN2_uc010kvd.3_Missense_Mutation_p.R42G|CHN2_uc011jzu.2_Missense_Mutation_p.R27G	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	42					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCGTCCCAAGAGAATCATTTG	0.403													G	29407583	A	G	29407583	3	3	167	1	0	0	0	0	1	0	0	0	3393	296	11	3	134	3	CHN2	7	29407583	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	11546385	29407583	129731080	35	11623											
PLEKHA8	84725	broad.mit.edu	37	chr7	30088881	30088882	+	Frame_Shift_Ins	INS	-	-	A																															tgctgaaatcaacctgtaatINSacttttctgaagaccttgga																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:30088881_30088882insA	uc003taq.3	+	4	882_883	c.480_481insA	c.(478-483)aatactfs	p.N160fs	PLEKHA8_uc022aba.1_Frame_Shift_Ins_p.N160fs|PLEKHA8_uc003tan.3_Frame_Shift_Ins_p.N160fs	NM_001197026	NP_001183955	Q96JA3	PKHA8_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8 (PLEKHA8), transcript variant 1, mRNA.	160					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						CAACCTGTAATACTTTTCTGAA	0.465													A	30088882	-	A	30088881	7	5	167	1	0	1	1	0	0	0	0	0	12139	1403	49	0	498	0	PLEKHA8	7	30088881	Frame_Shift_Ins	INS	-	TCGA-19-5954-01A-11D-1696-08	681298	30088881	129049782	36	11624											
CDK13	8621	broad.mit.edu	37	chr7	40117639	40117639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtcctgcagtgtggcCtgatgtaatcaaactaccat	10	12	8	11	0	1	1	1	1	0	0	3	1	3	1	4	1	3	2	4	1	3	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:40117639C>T	uc003thh.4	+	9	3098	c.2816C>T	c.(2815-2817)cCt>cTt	p.P939L	CDK13_uc003thi.4_Missense_Mutation_p.P939L|CDK13_uc003thj.3_5'UTR	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	939	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GCAGTGTGGCCTGATGTAATC	0.368													T	40117639	C	T	40117639	3	4	167	1	0	0	0	0	1	0	0	0	3159	681	24	2	2854	2	CDK13	7	40117639	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	10028758	40117639	119021024	37	11625											
ABCB1	5243	broad.mit.edu	37	chr7	87148696	87148696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagtaggctccaaacCggaaacatccagcataggaa	16	4	8	13	1	0	0	0	0	0	0	2	2	2	2	5	3	3	3	5	3	6	2	rs144369247		TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:87148696C>T	uc003uiz.2	-	23	3366	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB1_uc011khc.2_Missense_Mutation_p.R894Q	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	958	ABC transmembrane type-1 2.				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)	GGCTCCAAACCGGAAACATCC	0.383													T	87148696	C	T	87148696	3	4	167	1	0	0	0	0	1	0	0	0	40	652	23	1	993	1	ABCB1	7	87148696	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	47031057	87148696	71989967	38	11626											
SAMD9L	219285	broad.mit.edu	37	chr7	92761184	92761184	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttgagttttgctgcagTaggaaggcatattcattcac	9	17	9	6	0	2	1	2	1	0	0	2	2	2	2	0	2	2	5	0	2	3	9			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:92761184T>C	uc003umh.1	-	4	5317	c.4101A>G	c.(4099-4101)ctA>ctG	p.L1367L	SAMD9L_uc003umj.1_Silent_p.L1367L|SAMD9L_uc003umi.1_Silent_p.L1367L|SAMD9L_uc010lfb.1_Silent_p.L1367L|SAMD9L_uc003umk.1_Silent_p.L1367L|SAMD9L_uc010lfc.1_Silent_p.L1367L|SAMD9L_uc010lfd.1_Silent_p.L1367L|SAMD9L_uc022ahh.1_Silent_p.L1367L	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	1367										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGCTGCAGTAGGAAGGCAT	0.383													C	92761184	T	C	92761184	2	2	167	1	0	0	0	0	0	0	0	1	13918	1625	57	3		3	SAMD9L	7	92761184	Silent	SNP	T	TCGA-19-5954-01A-11D-1696-08	5612488	92761184	66377479	39	11627											
MUC17	140453	broad.mit.edu	37	chr7	100685627	100685627	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccattatgcctgtcagcAccacatcggtgaccatttct	10	12	6	13	1	2	1	1	1	1	0	3	1	2	1	4	1	3	1	4	1	2	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:100685627A>G	uc003uxp.1	+	2	10983	c.10930A>G	c.(10930-10932)Acc>Gcc	p.T3644A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3644	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)					GCCTGTCAGCACCACATCGGT	0.478													G	100685627	A	G	100685627	3	3	167	1	0	0	0	0	1	0	0	0	10050	159	6	3	10940	3	MUC17	7	100685627	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	7924443	100685627	58453036	40	11628											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651361	121651361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaacccaaccggtatacaAtggtgagacacctcttcaac	14	7	7	13	1	2	1	1	1	1	1	2	3	2	1	3	2	4	1	3	2	6	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:121651361A>G	uc003vjy.3	+	11	2656	c.2261A>G	c.(2260-2262)aAt>aGt	p.N754S	PTPRZ1_uc011knt.2_Missense_Mutation_p.N754S|PTPRZ1_uc003vjz.3_Missense_Mutation_p.N754S	NM_002851	NP_002842	P23471	PTPRZ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor-type, Z polypeptide 1 (PTPRZ1), transcript variant 1, mRNA.	754					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCGGTATACAATGGTGAGACA	0.488													G	121651361	A	G	121651361	3	3	167	1	0	0	0	0	1	0	0	0	12902	101	4	3	2307	3	PTPRZ1	7	121651361	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	20965734	121651361	37487302	41	11629											
OR6V1	346517	broad.mit.edu	37	chr7	142749543	142749543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatgctttatcttctcGccttcatgggaaacaccatc	8	14	5	14	1	4	0	2	0	2	0	7	1	5	1	3	1	2	1	3	1	2	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr7:142749543G>A	uc011ksv.2	+	0	106	c.106G>A	c.(106-108)Gcc>Acc	p.A36T		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTATCTTCTCGCCTTCATGGG	0.498													A	142749543	G	A	142749543	3	1	167	1	0	0	0	0	1	0	0	0	11287	1087	38	1	108	1	OR6V1	7	142749543	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	21098182	142749543	16389120	42	11630											
IDO2	169355	broad.mit.edu	37	chr8	39836613	39836613	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagctgccagttcctgAagggtcaccgggagcagcgc	7	7	15	12	2	1	2	1	2	0	0	2	3	2	3	3	2	5	4	3	2	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:39836613A>T	uc010lwy.1	+	3	504	c.262A>T	c.(262-264)Aag>Tag	p.K88*	IDO2_uc003xno.1_Non-coding_Transcript|IDO2_uc010lwz.1_5'UTR	NM_194294	NP_919270	Q6ZQW0	I23O2_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 2 (IDO2), mRNA.	75					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						CCAGTTCCTGAAGGGTCACCG	0.637													T	39836613	A	T	39836613	4	4	167	1	0	0	0	0	0	1	0	0	7560	247	9	5	276	5	IDO2	8	39836613	Nonsense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		39836613	106527409	43	11631											
FBXO43	286151	broad.mit.edu	37	chr8	101149805	101149805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacattacctcagaatctgtTttcagttgtgtgatataaaa	13	16	6	6	0	3	2	2	1	1	1	3	2	3	2	1	0	2	2	1	0	6	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr8:101149805T>C	uc003yjd.3	-	2	2398	c.1662A>G	c.(1660-1662)aaA>aaG	p.K554K	FBXO43_uc003yje.3_Silent_p.K520K|FBXO43_uc010mbp.2_Silent_p.K554K	NM_001029860	NP_001025031	Q4G163	FBX43_HUMAN	Homo sapiens F-box protein 43 (FBXO43), transcript variant 2, mRNA.	554					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			CAGAATCTGTTTTCAGTTGTG	0.308													C	101149805	T	C	101149805	2	2	167	1	0	0	0	0	0	0	0	1	5801	1838	64	3		3	FBXO43	8	101149805	Silent	SNP	T	TCGA-19-5954-01A-11D-1696-08	61313192	101149805	45214217	44	11632											
TRPM6	140803	broad.mit.edu	37	chr9	77436668	77436668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccaccactgggtccttGtccttgacagtctcccacac	8	9	6	18	0	1	1	0	1	1	0	4	1	3	1	5	1	0	0	5	1	0	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr9:77436668G>T	uc004ajl.1	-	7	1165	c.927C>A	c.(925-927)gaC>gaA	p.D309E	TRPM6_uc004ajk.1_Missense_Mutation_p.D304E|TRPM6_uc022bib.1_Missense_Mutation_p.D304E|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.D309E|TRPM6_uc010mpd.1_Missense_Mutation_p.D309E|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	309					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGGGTCCTTGTCCTTGACAG	0.592													T	77436668	G	T	77436668	3	4	167	1	0	0	0	0	1	0	0	0	16691	1368	48	4	5269	4	TRPM6	9	77436668	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		77436668	63776763	45	11633											
MYOF	26509	broad.mit.edu	37	chr10	95148849	95148849	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactctctggggcttccatAaagattcaggtaacaaggtc	11	11	10	9	0	2	1	1	0	1	1	5	1	3	1	1	4	2	3	1	4	5	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:95148849A>G	uc001kin.3	-	17	1642	c.1519T>C	c.(1519-1521)Tat>Cat	p.Y507H	MYOF_uc001kio.3_Missense_Mutation_p.Y494H	NM_013451	NP_038479	Q9NZM1	MYOF_HUMAN	Homo sapiens myoferlin (MYOF), transcript variant 1, mRNA.	507					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGGCTTCCATAAAGATTCAGG	0.428													G	95148849	A	G	95148849	3	3	167	1	0	0	0	0	1	0	0	0	10165	362	13	3	4814	3	MYOF	10	95148849	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		95148849	40385898	46	11634											
MKI67	4288	broad.mit.edu	37	chr10	129906302	129906302	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatacttctcttgggtcGttgctttgtgcttgttgggg	2	18	13	8	1	1	1	0	1	1	0	3	1	1	1	1	3	3	4	1	3	1	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr10:129906302G>A	uc001lke.3	-	12	3997	c.3802C>T	c.(3802-3804)Cga>Tga	p.R1268*	MKI67_uc001lkf.3_Nonsense_Mutation_p.R908*|MKI67_uc009yav.1_Nonsense_Mutation_p.R843*|MKI67_uc009yaw.1_Nonsense_Mutation_p.R418*	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	1268	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding	p.R1268Q(1)		NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTTGGGTCGTTGCTTTGTG	0.507													A	129906302	G	A	129906302	4	1	167	1	0	0	0	0	0	1	0	0	9673	1153	40	1	5980	1	MKI67	10	129906302	Nonsense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	34757453	129906302	5628445	47	11635											
F2	2147	broad.mit.edu	37	chr11	46750326	46750326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctgatgaagctgaagaagCctgttgccttcagtgactac	10	10	10	11	0	1	5	1	4	0	1	1	5	1	5	3	0	4	2	3	0	4	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:46750326C>G	uc001ndf.4	+	10	1454	c.1411C>G	c.(1411-1413)Cct>Gct	p.P471A		NM_000506	NP_000497	P00734	THRB_HUMAN	Homo sapiens coagulation factor II (thrombin) (F2), mRNA.	471	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity	p.P471S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GCTGAAGAAGCCTGTTGCCTT	0.547													G	46750326	C	G	46750326	3	3	167	1	0	0	0	0	1	0	0	0	5384	739	26	4	1453	4	F2	11	46750326	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		46750326	88256190	48	11636											
FAM111A	63901	broad.mit.edu	37	chr11	58919918	58919918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagccagttgatgaattAgaaggcagatactttcaggt	13	10	10	8	0	1	4	1	2	0	2	1	4	1	4	2	2	2	2	2	2	4	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:58919918A>G	uc010rkp.2	+	4	1004	c.777A>G	c.(775-777)ttA>ttG	p.L259L	FAM111A_uc010rkq.2_Silent_p.L259L|FAM111A_uc010rkr.2_Silent_p.L259L|FAM111A_uc001nno.3_Silent_p.L259L|FAM111A_uc001nnp.3_Silent_p.L259L|FAM111A_uc001nnq.3_Silent_p.L259L	NM_001142521	NP_942144	Q96PZ2	F111A_HUMAN	Homo sapiens family with sequence similarity 111, member A (FAM111A), transcript variant 5, mRNA.	259					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				TTGATGAATTAGAAGGCAGAT	0.423													G	58919918	A	G	58919918	2	3	167	1	0	0	0	0	0	0	0	1	5444	417	15	3		3	FAM111A	11	58919918	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	12169592	58919918	76086598	49	11637											
NRXN2	9379	broad.mit.edu	37	chr11	64375399	64375399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcccccagagggcgggcGgcgcgcggcgggcgggggca	3	0	24	14	8	0	1	0	0	0	1	0	1	0	1	2	8	0	1	2	8	0	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:64375399G>A	uc021qkw.1	-	22	4870	c.4408C>T	c.(4408-4410)Cgc>Tgc	p.R1470C	NRXN2_uc021qkx.1_Missense_Mutation_p.R1400C|NRXN2_uc001oas.3_Missense_Mutation_p.R1400C|NRXN2_uc001oao.3_Missense_Mutation_p.R110C|NRXN2_uc001oap.3_Missense_Mutation_p.R424C|NRXN2_uc001oaq.3_Missense_Mutation_p.R1137C	NM_015080	NP_055895	Q9P2S2	NRX2A_HUMAN	Homo sapiens neurexin 2 (NRXN2), transcript variant alpha-1, mRNA.	1470					cell adhesion	integral to membrane	metal ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	71						GAgggcgggcggcgcgcggcg	0.751													A	64375399	G	A	64375399	3	1	167	1	0	0	0	0	1	0	0	0	10742	1116	39	1	734	1	NRXN2	11	64375399	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	5455481	64375399	70631117	50	11638											
IL10RA	3587	broad.mit.edu	37	chr11	117860220	117860220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgtcctatgaccttacCgcagtgaccttggacctgta	8	11	8	14	1	0	2	0	2	0	0	1	3	1	3	6	1	1	2	6	1	3	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:117860220C>T	uc001prv.3	+	2	329	c.252C>T	c.(250-252)acC>acT	p.T84T	IL10RA_uc010rxl.2_Silent_p.T64T|IL10RA_uc010rxm.2_Silent_p.T64T|IL10RA_uc010rxn.2_Intron|IL10RA_uc001prw.3_5'UTR	NM_001558	NP_001549	Q13651	I10R1_HUMAN	Homo sapiens interleukin 10 receptor, alpha (IL10RA), transcript variant 1, mRNA.	84			T -> I (in IBD28).			integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		ATGACCTTACCGCAGTGACCT	0.577													T	117860220	C	T	117860220	2	4	167	1	0	0	0	0	0	0	0	1	7678	639	23	1		1	IL10RA	11	117860220	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	53484821	117860220	17146296	51	11639											
APLP2	334	broad.mit.edu	37	chr11	129999030	129999030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacctggcccgagtggaaGctatgctgaatgaccgccgt	8	7	12	14	3	0	2	0	2	0	0	0	4	0	3	5	2	2	2	5	2	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr11:129999030G>A	uc010sby.2	+	9	1541	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	APLP2_uc001qfp.3_Missense_Mutation_p.A462T|APLP2_uc001qfq.3_Missense_Mutation_p.A406T|APLP2_uc010sbz.2_Missense_Mutation_p.A250T|APLP2_uc001qfr.3_Missense_Mutation_p.A228T|APLP2_uc001qfs.3_Missense_Mutation_p.A233T|APLP2_uc021qsg.1_Missense_Mutation_p.A472T|APLP2_uc001qfv.3_Missense_Mutation_p.A353T	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	462					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		CCGAGTGGAAGCTATGCTGAA	0.582													A	129999030	G	A	129999030	3	1	167	1	0	0	0	0	1	0	0	0	782	971	34	2	1422	2	APLP2	11	129999030	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	12138810	129999030	5007486	52	11640											
TAS2R30	259293	broad.mit.edu	37	chr12	11286246	11286246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgtttacacagagaacAgattaacagcagaaaagata	20	7	9	5	0	0	5	0	0	0	5	0	7	0	5	0	0	4	2	0	0	6	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:11286246A>G	uc009zhs.1	-	0	598	c.598T>C	c.(598-600)Tgt>Cgt	p.C200R	PRH1_uc001qzb.4_Intron|TAS2R14_uc021qve.1_Intron|PRH1_uc021qvg.1_Intron|PRB4_uc001qzf.1_Intron|TAS2R14_uc001qzj.3_Intron	NM_001097643	NP_001091112			Homo sapiens taste receptor, type 2, member 30 (TAS2R30), mRNA.											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						CACAGAGAACAGATTAACAGC	0.428													G	11286246	A	G	11286246	3	3	167	1	0	0	0	0	1	0	0	0	15670	188	7	3	365	3	TAS2R30	12	11286246	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		11286246	122565649	53	11641											
SOAT2	8435	broad.mit.edu	37	chr12	53516999	53516999	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcttccttgtcattggAggtgagctggtctctgtgcc	5	15	11	10	0	3	1	1	1	2	0	5	2	4	2	2	3	3	1	2	3	1	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr12:53516999A>G	uc001sbv.3	+	13	1460	c.1372_splice	c.e13+1	p.G458_splice	SOAT2_uc009zms.3_Splice_Site	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	458					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						TTGTCATTGGAGGTGAGCTGG	0.582													G	53516999	A	G	53516999	2	3	167	1	0	0	0	0	0	0	0	1	15005	318	11	3		3	SOAT2	12	53516999	Silent	SNP	A	TCGA-19-5954-01A-11D-1696-08	42230753	53516999	80334896	54	11642											
CLYBL	171425	broad.mit.edu	37	chr13	100425088	100425088	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcttgcaggaaagcgtctCtagcagctgatatccccaga	10	10	10	11	1	2	2	0	1	2	1	4	3	3	3	2	1	4	3	2	1	3	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr13:100425088C>G	uc001vok.3	+	1	104	c.73C>G	c.(73-75)Cta>Gta	p.L25V	CLYBL_uc010tix.2_Missense_Mutation_p.L25V|CLYBL_uc010tiy.2_Missense_Mutation_p.L25V	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	25					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GAAAGCGTCTCTAGCAGCTGA	0.388													G	100425088	C	G	100425088	3	3	167	1	0	0	0	0	1	0	0	0	3604	912	32	4	79	4	CLYBL	13	100425088	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		100425088	14744790	55	11643											
ALDH6A1	4329	broad.mit.edu	37	chr14	74534253	74534253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattggcatctggcatgactAccccatggttcttggctccc	6	13	9	13	0	2	1	0	1	2	0	3	1	3	1	3	4	1	4	3	4	2	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:74534253A>G	uc001xpo.3	-	7	971	c.872T>C	c.(871-873)gTa>gCa	p.V291A	C14orf45_uc001xpm.1_Intron|ALDH6A1_uc010tuq.2_Missense_Mutation_p.V278A|ALDH6A1_uc010asa.3_Missense_Mutation_p.V136A	NM_005589	NP_005580	Q02252	MMSA_HUMAN	Homo sapiens aldehyde dehydrogenase 6 family, member A1 (ALDH6A1), nuclear gene encoding mitochondrial protein, mRNA.	291						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TGGCATGACTACCCCATGGTT	0.478													G	74534253	A	G	74534253	3	3	167	1	0	0	0	0	1	0	0	0	503	391	14	3	755	3	ALDH6A1	14	74534253	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08		74534253	32815287	56	11644											
LTBP2	4053	broad.mit.edu	37	chr14	75078642	75078642	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgggctttggtccgcggCctcatggcgcggggcggctg	1	8	19	13	6	1	0	1	0	0	0	2	0	2	0	2	7	1	2	2	7	0	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr14:75078642C>T	uc001xqa.3	-	0	393	c.6G>A	c.(4-6)agG>agA	p.R2R		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	2					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TGGTCCGCGGCCTCATGGCGC	0.756													T	75078642	C	T	75078642	2	4	167	1	0	0	0	0	0	0	0	1	9144	738	26	2		2	LTBP2	14	75078642	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	544389	75078642	32270898	57	11645											
GABRB3	2562	broad.mit.edu	37	chr15	26812728	26812728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttaaaaatagcacatacCgagggcaactctagcagcag	16	6	8	11	1	1	0	0	0	1	0	1	1	1	0	1	1	5	4	1	1	7	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:26812728C>T	uc001zbb.3	-	8	1106	c.1003_splice	c.e8+1	p.G335_splice	GABRB3_uc021sgg.1_Splice_Site_p.G208_splice|GABRB3_uc021sgh.1_Splice_Site_p.G194_splice|GABRB3_uc001zaz.3_Splice_Site_p.G279_splice|GABRB3_uc001zba.3_Splice_Site_p.G279_splice	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	279					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.G279R(2)|p.G335R(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TAGCACATACCGAGGGCAACT	0.373													T	26812728	C	T	26812728	3	4	167	1	0	0	0	0	1	0	0	0	6220	666	23	1	598	1	GABRB3	15	26812728	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		26812728	75718664	58	11646											
ALDH1A2	8854	broad.mit.edu	37	chr15	58306465	58306465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctgagttctgccactcGttgtttataaagatctaagg	9	15	8	9	1	3	2	0	1	3	1	5	2	3	2	1	1	1	3	1	1	4	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:58306465G>A	uc002aex.3	-	1	405	c.132C>T	c.(130-132)aaC>aaT	p.N44N	ALDH1A2_uc010ugv.2_Silent_p.N23N|ALDH1A2_uc002aey.3_Silent_p.N44N|ALDH1A2_uc010ugw.2_Silent_p.N15N|ALDH1A2_uc002aew.3_5'Flank	NM_003888	NP_733798	O94788	AL1A2_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A2 (ALDH1A2), transcript variant 1, mRNA.	44					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	TCTGCCACTCGTTGTTTATAA	0.453													A	58306465	G	A	58306465	2	1	167	1	0	0	0	0	0	0	0	1	491	1136	40	1		1	ALDH1A2	15	58306465	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	31493737	58306465	44224927	59	11647											
CIB1	10519	broad.mit.edu	37	chr15	90775506	90775506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttgtgcccgaagtgacGactccacgctccgctgctcc	6	8	10	17	4	0	1	0	1	0	0	3	3	3	1	4	0	2	4	4	0	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr15:90775506G>A	uc002bpb.4	-	2	302	c.140C>T	c.(139-141)tCg>tTg	p.S47L	GDPGP1_uc002bpc.3_5'Flank	NM_006384	NP_006375	Q99828	CIB1_HUMAN	Homo sapiens calcium and integrin binding 1 (calmyrin) (CIB1), mRNA.	47					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCGAAGTGACGACTCCACGCT	0.612													A	90775506	G	A	90775506	3	1	167	1	0	0	0	0	1	0	0	0	3450	1059	37	1	455	1	CIB1	15	90775506	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	32469041	90775506	11755886	60	11648											
HS3ST6	64711	broad.mit.edu	37	chr16	1962053	1962053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgtctgggcgtagtcGgagatggcccgggtcacggg	6	6	20	9	5	2	2	1	0	1	2	3	4	2	2	1	5	1	1	1	5	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:1962053G>A	uc002cnf.3	-	1	474	c.474C>T	c.(472-474)tcC>tcT	p.S158S	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	158										endometrium(2)|lung(2)	4						GGGCGTAGTCGGAGATGGCCC	0.721													A	1962053	G	A	1962053	2	1	167	1	0	0	0	0	0	0	0	1	7424	1103	39	1		1	HS3ST6	16	1962053	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		1962053	88392700	61	11649											
GDPD3	79153	broad.mit.edu	37	chr16	30124034	30124036	+	In_Frame_Del	DEL	TCA	TCA	-																															ccgactggcggcacaggttcTcatcatgtgacaccaccacc																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:30124034_30124036delTCA	uc002dwp.3	-	2	340_342	c.261_263delTGA	c.(259-264)gatgag>gag	p.D87del	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_In_Frame_Del_p.D25del|NR_027081_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	87	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GCACAGGTTCTCATCATGTGACA	0.645											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	30124036	TCA	-	30124034	7	5	167	1	0	1	0	1	0	0	0	0	6381	1551	54	0	725	0	GDPD3	16	30124034	In_Frame_Del	DEL	TCA	TCGA-19-5954-01A-11D-1696-08	28161981	30124034	60230719	62	11650											
CHD9	80205	broad.mit.edu	37	chr16	53308187	53308187	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttattggaaatgagtgtcAgaaagtatttgatggagttg	13	14	13	1	0	1	3	1	2	0	1	1	5	1	5	0	2	0	3	0	2	4	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr16:53308187A>T	uc002ehb.3	+	22	5104	c.4940A>T	c.(4939-4941)cAg>cTg	p.Q1647L	CHD9_uc002egy.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehc.3_Missense_Mutation_p.Q1647L|CHD9_uc002ehf.3_Missense_Mutation_p.Q761L|CHD9_uc002ehg.2_Missense_Mutation_p.Q761L|CHD9_uc010cbw.3_Missense_Mutation_p.Q15L	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1647					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AATGAGTGTCAGAAAGTATTT	0.348													T	53308187	A	T	53308187	3	4	167	1	0	0	0	0	1	0	0	0	3362	188	7	5	5030	5	CHD9	16	53308187	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	23184153	53308187	37046566	63	11651											
MFSD6L	162387	broad.mit.edu	37	chr17	8702398	8702398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggaagagcttggccaccCccagcgccctgctgatgtcc	6	7	13	15	1	0	2	0	1	0	1	1	3	1	3	5	3	3	2	5	3	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:8702398C>A	uc002glp.2	-	0	270	c.41G>T	c.(40-42)gGg>gTg	p.G14V		NM_152599	NP_689812	Q8IWD5	MFS6L_HUMAN	Homo sapiens major facilitator superfamily domain containing 6-like (MFSD6L), mRNA.	14						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CTTGGCCACCCCCAGCGCCCT	0.726													A	8702398	C	A	8702398	3	1	167	1	0	0	0	0	1	0	0	0	9611	623	22	4	1723	4	MFSD6L	17	8702398	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08		8702398	72492812	64	11652											
SREBF1	6720	broad.mit.edu	37	chr17	17721038	17721038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagactgggctgtcaGgctccgagtcactgccactg	8	8	11	14	1	3	1	3	0	0	1	4	2	4	1	3	2	1	2	3	2	1	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:17721038G>T	uc002gru.2	-	6	1570	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	SREBF1_uc002grp.2_Missense_Mutation_p.L29M|SREBF1_uc002grq.2_5'UTR|SREBF1_uc002grr.2_Missense_Mutation_p.P205H|SREBF1_uc002grs.2_Missense_Mutation_p.P435H|SREBF1_uc002grt.2_Missense_Mutation_p.P489H|SREBF1_uc010cpp.1_Missense_Mutation_p.P435H|SREBF1_uc010cpq.1_Missense_Mutation_p.P459H	NM_004176	NP_004167	P36956	SRBP1_HUMAN	Homo sapiens sterol regulatory element binding transcription factor 1 (SREBF1), transcript variant 2, mRNA.	459	Gly/Pro/Ser-rich.|Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TGGGCTGTCAGGCTCCGAGTC	0.657													T	17721038	G	T	17721038	3	4	167	1	0	0	0	0	1	0	0	0	15237	1000	35	4	2119	4	SREBF1	17	17721038	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	9018640	17721038	63474172	65	11653											
RGS9	8787	broad.mit.edu	37	chr17	63221294	63221294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccctcacccatcagaGtggccttggagagctcatcg	7	9	10	15	1	4	2	3	0	1	2	5	3	4	2	4	2	2	1	4	2	0	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr17:63221294G>A	uc002jfe.3	+	17	1785	c.1582G>A	c.(1582-1584)Gtg>Atg	p.V528M	RGS9_uc010dem.3_Missense_Mutation_p.V525M|RGS9_uc002jfd.3_Missense_Mutation_p.V525M|RGS9_uc002jfg.3_Missense_Mutation_p.V299M	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	528				RVALE -> LVVLD (in Ref. 7; AAC25430).	intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ACCCATCAGAGTGGCCTTGGA	0.677													A	63221294	G	A	63221294	3	1	167	1	0	0	0	0	1	0	0	0	13402	1029	36	2	1707	2	RGS9	17	63221294	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	45500256	63221294	17973916	66	11654											
SERPINB2	5055	broad.mit.edu	37	chr18	61570323	61570323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaatttctcagggatgtcGgagaggaatgacctgtttct	9	12	12	8	1	2	2	1	1	2	1	4	5	2	4	2	3	0	1	2	3	2	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:61570323G>A	uc010xeu.2	+	8	1365	c.1032G>A	c.(1030-1032)tcG>tcA	p.S344S	SERPINB2_uc002ljo.3_Silent_p.S344S|SERPINB2_uc002ljp.1_Intron|SERPINB2_uc002ljq.1_Intron	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	344					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.S344S(2)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	CAGGGATGTCGGAGAGGAATG	0.498													A	61570323	G	A	61570323	2	1	167	1	0	0	0	0	0	0	0	1	14194	1103	39	1		1	SERPINB2	18	61570323	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		61570323	16506925	67	11655											
ADNP2	22850	broad.mit.edu	37	chr18	77895050	77895050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatcagccagtgagacctgGtgcttcgcagaacaccacct	11	7	10	13	1	1	2	1	1	0	2	2	4	1	2	4	1	3	2	4	1	2	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr18:77895050G>A	uc002lnw.3	+	3	2209	c.1754G>A	c.(1753-1755)gGt>gAt	p.G585D		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	585					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		GTGAGACCTGGTGCTTCGCAG	0.552													A	77895050	G	A	77895050	3	1	167	1	0	0	0	0	1	0	0	0	324	1261	44	2	1764	2	ADNP2	18	77895050	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	16324727	77895050	182198	68	11656											
VAV1	7409	broad.mit.edu	37	chr19	6828672	6828672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgaggtcaagcgagacaacGagacactgcgacagatcacc	15	3	11	12	4	2	3	2	0	0	3	2	7	2	3	1	1	3	0	1	1	2	0			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:6828672G>A	uc002mfu.1	+	11	1229	c.1132G>A	c.(1132-1134)Gag>Aag	p.E378K	VAV1_uc010xjh.1_Missense_Mutation_p.E346K|VAV1_uc010dva.1_Missense_Mutation_p.E378K|VAV1_uc002mfv.1_Missense_Mutation_p.E323K	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	378					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GCGAGACAACGAGACACTGCG	0.637													A	6828672	G	A	6828672	3	1	167	1	0	0	0	0	1	0	0	0	17233	1059	37	1	1178	1	VAV1	19	6828672	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		6828672	52300311	69	11657											
MUC16	94025	broad.mit.edu	37	chr19	9014654	9014654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcttttggggtcaagaCggtgggtgcagatggcatcc	7	9	17	8	1	1	2	1	0	0	2	2	2	2	2	1	6	1	3	1	6	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:9014654C>T	uc002mkp.3	-	30	38525	c.38321G>A	c.(38320-38322)cGt>cAt	p.R12774H	MUC16_uc021uog.1_5'Flank	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12776	SEA 5.			Missing (in Ref. 3; AAK74120).	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						GGGGTCAAGACGGTGGGTGCA	0.567													T	9014654	C	T	9014654	3	4	167	1	0	0	0	0	1	0	0	0	10049	536	19	1	5418	1	MUC16	19	9014654	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	2185982	9014654	50114329	70	11658											
IL27RA	9466	broad.mit.edu	37	chr19	14150321	14150321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcctctctcctcacagcCgttccaacaaaacccagact	10	7	4	20	2	2	1	1	0	1	1	5	1	4	1	6	0	3	1	6	0	3	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:14150321C>T	uc002mxx.3	+	3	642	c.219_splice	c.e3-1	p.Y73_splice		NM_004843	NP_004834	Q6UWB1	I27RA_HUMAN	Homo sapiens interleukin 27 receptor, alpha (IL27RA), mRNA.	73					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TCCTCACAGCCGTTCCAACAA	0.602													T	14150321	C	T	14150321	3	4	167	1	0	0	0	0	1	0	0	0	7739	666	23	1	230	1	IL27RA	19	14150321	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	5135667	14150321	44978662	71	11659											
CPAMD8	27151	broad.mit.edu	37	chr19	17017818	17017818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaggggctgccgggctgCggagcagggtcagcgcgtag	5	5	19	12	4	2	0	2	0	0	0	2	1	2	1	2	5	4	4	2	5	1	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17017818C>T	uc002nfb.3	-	29	4144	c.4112G>A	c.(4111-4113)cGc>cAc	p.R1371H		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1324						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TGCCGGGCTGCGGAGCAGGGT	0.667													T	17017818	C	T	17017818	3	4	167	1	0	0	0	0	1	0	0	0	3826	768	27	1	1738	1	CPAMD8	19	17017818	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	2867497	17017818	42111165	72	11660											
ABHD8	79575	broad.mit.edu	37	chr19	17411828	17411828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacctcatagcctaggcGcacaaagaagtccagctgct	12	6	8	15	1	1	1	1	0	0	1	2	1	2	1	4	1	3	3	4	1	4	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:17411828G>A	uc002ngb.4	-	1	838	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C		NM_024527	NP_078803	Q96I13	ABHD8_HUMAN	Homo sapiens abhydrolase domain containing 8 (ABHD8), mRNA.	200							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TAGCCTAGGCGCACAAAGAAG	0.642													A	17411828	G	A	17411828	3	1	167	1	0	0	0	0	1	0	0	0	87	1087	38	1	737	1	ABHD8	19	17411828	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	394010	17411828	41717155	73	11661											
LGALS14	56891	broad.mit.edu	37	chr19	40197279	40197279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcctgttggttcgtgcGtgataatcacagggacaccg	7	11	12	11	3	1	1	1	1	0	0	2	2	1	2	3	2	2	2	3	2	1	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:40197279G>A	uc002omf.3	+	2	586	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	LGALS14_uc002omg.3_Missense_Mutation_p.V20M	NM_203471	NP_982297	Q8TCE9	PPL13_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 14 (LGALS14), transcript variant 2, mRNA.	20	Galectin.					nucleus	sugar binding	p.C48C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|stomach(2)	14	all_cancers(60;4.39e-06)|all_lung(34;6.76e-08)|Lung NSC(34;7.98e-08)|Ovarian(47;0.06)	Myeloproliferative disorder(2;0.0741)	Epithelial(26;1.08e-24)|OV - Ovarian serous cystadenocarcinoma(5;1.92e-24)|all cancers(26;4.12e-22)			TGGTTCGTGCGTGATAATCAC	0.498													A	40197279	G	A	40197279	3	1	167	1	0	0	0	0	1	0	0	0	8800	1145	40	1	170	1	LGALS14	19	40197279	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	22785451	40197279	18931704	74	11662											
KLK5	25818	broad.mit.edu	37	chr19	51452018	51452018	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcaagcactggaggacctTagggaagtgcactgtcaaac	13	8	11	9	0	2	0	2	0	0	0	2	3	2	3	1	3	3	2	1	3	4	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:51452018T>C	uc002pue.3	-	5	822	c.604A>G	c.(604-606)Aag>Gag	p.K202E	KLK5_uc002puf.3_Missense_Mutation_p.K202E|KLK5_uc002pug.3_Missense_Mutation_p.K202E	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	202	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		TGGAGGACCTTAGGGAAGTGC	0.502													C	51452018	T	C	51452018	3	2	167	1	0	0	0	0	1	0	0	0	8465	1763	61	3	285	3	KLK5	19	51452018	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	11254739	51452018	7676965	75	11663											
KIR3DL2	3811	broad.mit.edu	37	chr19	55331314	55331314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggacccctcacgcctcGttggacagatccatgatggg	9	8	11	13	2	1	2	1	1	0	1	3	4	2	4	4	3	0	1	4	3	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55331314G>A	uc002qhl.4	+	3	565	c.502G>A	c.(502-504)Gtt>Att	p.V168I	KIR3DL2_uc010yfj.2_Intron|KIR3DL2_uc010yfk.1_Intron|KIR3DL2_uc021vbm.1_Missense_Mutation_p.V168I|KIR3DL2_uc010esf.3_Missense_Mutation_p.V73I|KIR3DL2_uc021vbo.1_Missense_Mutation_p.V168I|KIR3DL2_uc002qhk.4_Missense_Mutation_p.V168I			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	168	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity	p.V168I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTCACGCCTCGTTGGACAGAT	0.502													A	55331314	G	A	55331314	3	1	167	1	0	0	0	0	1	0	0	0	8379	1145	40	1		1	KIR3DL2	19	55331314	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	3879296	55331314	3797669	76	11664											
SYT5	6861	broad.mit.edu	37	chr19	55685985	55685985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcttccgcacctttttgCcgccctgcagcaggtggacc	4	12	9	16	2	2	0	0	0	2	0	3	1	3	1	5	2	3	3	5	2	0	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:55685985C>T	uc002qjm.1	-	6	1920	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SYT5_uc002qjp.2_Missense_Mutation_p.G283D|SYT5_uc002qjn.1_Missense_Mutation_p.G287D|SYT5_uc002qjo.1_Missense_Mutation_p.G286D	NM_003180	NP_003171	O00445	SYT5_HUMAN	Homo sapiens synaptotagmin V (SYT5), mRNA.	287	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.G287D(2)		kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACCTTTTTGCCGCCCTGCAG	0.517													T	55685985	C	T	55685985	3	4	167	1	0	0	0	0	1	0	0	0	15574	739	26	2	308	2	SYT5	19	55685985	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	354671	55685985	3442998	77	11665											
ZSCAN1	284312	broad.mit.edu	37	chr19	58565136	58565136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcaccagaagacccatcGcgaggaagggccctttccgt	10	5	12	14	4	0	2	0	0	0	2	2	5	1	3	4	2	1	1	4	2	2	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr19:58565136G>A	uc002qrc.1	+	5	1191	c.944G>A	c.(943-945)cGc>cAc	p.R315H		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	315					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R315C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGACCCATCGCGAGGAAGGG	0.647													A	58565136	G	A	58565136	3	1	167	1	0	0	0	0	1	0	0	0	18325	1087	38	1	958	1	ZSCAN1	19	58565136	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	2879151	58565136	563847	78	11666											
EMILIN3	90187	broad.mit.edu	37	chr20	39990117	39990119	+	In_Frame_Del	DEL	CCT	CCT	-																															gcccagcctcctgcacgcacCctccacttgtgccacccgct																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr20:39990117_39990119delCCT	uc002xjy.1	-	3	2314_2316	c.2090_2092delAGG	c.(2089-2094)gagggt>ggt	p.E697del		NM_052846	NP_443078	Q9NT22	EMIL3_HUMAN	Homo sapiens elastin microfibril interfacer 3 (EMILIN3), mRNA.	697						proteinaceous extracellular matrix				biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CTGCACGCACCCTCCACTTGTGC	0.665													-	39990119	CCT	-	39990117	7	5	167	1	0	1	0	1	0	0	0	0	5136	623	22	0	212	0	EMILIN3	20	39990117	In_Frame_Del	DEL	CCT	TCGA-19-5954-01A-11D-1696-08		39990117	23035403	79	11667											
ERG	2078	broad.mit.edu	37	chr21	39795376	39795376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgttcgtggtcatgtttgggGgtggcatgtgcttctcctcc	2	15	14	10	2	2	0	1	0	1	0	5	0	3	0	2	4	1	4	2	4	0	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:39795376G>A	uc010gnw.3	-	4	660	c.365C>T	c.(364-366)cCc>cTc	p.P122L	ERG_uc021wjd.1_Missense_Mutation_p.P122L|ERG_uc002yxa.3_Missense_Mutation_p.P115L|ERG_uc011aek.2_Missense_Mutation_p.P23L|ERG_uc010gnv.3_Missense_Mutation_p.P23L|ERG_uc010gnx.3_Missense_Mutation_p.P122L|ERG_uc011ael.2_Missense_Mutation_p.P122L|ERG_uc002yxb.3_Missense_Mutation_p.P122L|ERG_uc011aem.1_Missense_Mutation_p.P115L|ERG_uc002yxc.4_Missense_Mutation_p.P122L	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	122	PNT.				cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CATGTTTGGGGGTGGCATGTG	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39795376	G	A	39795376	3	1	167	1	0	0	0	0	1	0	0	0	5263	1232	43	2	1127	2	ERG	21	39795376	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08		39795376	8334519	80	11668											
POFUT2	23275	broad.mit.edu	37	chr21	46689872	46689872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgtctgtgaccccagatGaaatcttttcttctcaggtg	7	15	8	11	0	4	3	1	2	4	1	6	3	5	3	3	1	0	0	3	1	1	3			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chr21:46689872G>A	uc002zhc.3	-	6	919	c.894C>T	c.(892-894)ttC>ttT	p.F298F	POFUT2_uc002zha.3_Non-coding_Transcript|POFUT2_uc002zhb.3_Non-coding_Transcript|POFUT2_uc002zhd.3_Silent_p.F298F	NM_133635	NP_598368	Q9Y2G5	OFUT2_HUMAN	Homo sapiens protein O-fucosyltransferase 2 (POFUT2), transcript variant 3, mRNA.	298					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GACCCCAGATGAAATCTTTTC	0.572													A	46689872	G	A	46689872	2	1	167	1	0	0	0	0	0	0	0	1	12261	1281	45	2		2	POFUT2	21	46689872	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	6894496	46689872	1440023	81	11669											
MXRA5	25878	broad.mit.edu	37	chrX	3242355	3242355	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatattgtttgagaatactgGgtgtagtaggaaagtagcac	13	12	13	3	0	0	1	0	1	0	1	0	4	0	2	0	2	2	5	0	2	7	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:3242355G>T	uc004crg.4	-	4	1528	c.1371C>A	c.(1369-1371)acC>acA	p.T457T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	457						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGAATACTGGGTGTAGTAGG	0.488													T	3242355	G	T	3242355	2	4	167	1	0	0	0	0	0	0	0	1	10079	1219	43	4		4	MXRA5	23	3242355	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08		3242355	152028205	82	11670											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999353	27999353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtctgaggaggccgcCgtcaccgctgctactccaga	8	8	11	14	3	3	2	2	1	1	1	4	3	4	3	4	2	2	2	4	2	2	1			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:27999353C>T	uc004dbx.1	-	0	214	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567													T	27999353	C	T	27999353	2	4	167	1	0	0	0	0	0	0	0	1	4311	639	23	1		1	DCAF8L1	23	27999353	Silent	SNP	C	TCGA-19-5954-01A-11D-1696-08	24756998	27999353	127271207	83	11671											
GPR34	2857	broad.mit.edu	37	chrX	41555890	41555890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatgtccagtaacattcGcaaaataatgtgccaacttc	13	11	6	11	1	0	1	0	1	0	0	3	1	1	1	3	0	3	2	3	0	5	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:41555890G>A	uc022bvc.1	+	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.R335H|GPR34_uc004dfq.4_Missense_Mutation_p.R335H|GPR34_uc010nhg.3_Missense_Mutation_p.R335H|GPR34_uc004dfr.4_Missense_Mutation_p.R335H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	335						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AGTAACATTCGCAAAATAATG	0.373													A	41555890	G	A	41555890	3	1	167	1	0	0	0	0	1	0	0	0	6743	1087	38	1	1006	1	GPR34	23	41555890	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	13556537	41555890	113714670	84	11672											
DGAT2L6	347516	broad.mit.edu	37	chrX	69420246	69420246	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcccatccatcactcccTttgtagggaccttagaaagg	9	13	7	12	0	1	1	1	0	0	1	4	2	4	2	4	2	0	1	4	2	3	5			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:69420246T>A	uc004dxx.1	+	3	506	c.409T>A	c.(409-411)Ttt>Att	p.F137I		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	137					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CATCACTCCCTTTGTAGGGAC	0.413													A	69420246	T	A	69420246	3	1	167	1	0	0	0	0	1	0	0	0	4498	1609	56	5	423	5	DGAT2L6	23	69420246	Missense_Mutation	SNP	T	TCGA-19-5954-01A-11D-1696-08	27864356	69420246	85850314	85	11673											
CENPI	2491	broad.mit.edu	37	chrX	100382542	100382542	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtagctacactaaagAatgtggaaaaaaagagatga	19	8	9	5	0	0	3	0	1	0	2	1	5	1	4	1	1	2	2	1	1	8	4			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:100382542A>G	uc004egx.3	+	9	1232	c.962A>G	c.(961-963)gAa>gGa	p.E321G	CENPI_uc011mrg.2_Missense_Mutation_p.E321G|CENPI_uc004egy.3_Missense_Mutation_p.E321G	NM_006733	NP_006724	Q92674	CENPI_HUMAN	Homo sapiens centromere protein I (CENPI), mRNA.	321					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TACACTAAAGAATGTGGAAAA	0.353													G	100382542	A	G	100382542	3	3	167	1	0	0	0	0	1	0	0	0	3263	246	9	3	996	3	CENPI	23	100382542	Missense_Mutation	SNP	A	TCGA-19-5954-01A-11D-1696-08	30962296	100382542	54888018	86	11674											
ARMCX5	64860	broad.mit.edu	37	chrX	101858012	101858012	+	Frame_Shift_Del	DEL	C	C	-																															agcctaaagagtttgataaaCttgttgccctccttaagtta																										TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858012delC	uc022cbb.1	+	0	943	c.943delC	c.(943-945)cttfs	p.L315fs	ARMCX5_uc004ejg.3_Frame_Shift_Del_p.L315fs|ARMCX5_uc022caw.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cax.1_Frame_Shift_Del_p.L315fs|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc022cba.1_Frame_Shift_Del_p.L315fs|ARMCX5_uc004ejh.3_Frame_Shift_Del_p.L315fs	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	315							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GTTTGATAAACTTGTTGCCCT	0.388													-	101858012	C	-	101858012	7	5	167	1	0	1	0	1	0	0	0	0	967	565	20	0	945	0	ARMCX5	23	101858012	Frame_Shift_Del	DEL	C	TCGA-19-5954-01A-11D-1696-08	1475470	101858012	53412548	87	11675			1	29		2	2	18	N	G_C	4.997173e-05
ARMCX5	64860	broad.mit.edu	37	chrX	101858029	101858029	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacttgttgccctccttaaGttaactaaggatcctttcat	11	15	5	10	0	1	0	1	0	0	0	3	1	3	1	3	1	3	2	3	1	4	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:101858029G>C	uc022cbb.1	+	0	960	c.960G>C	c.(958-960)aaG>aaC	p.K320N	ARMCX5_uc004ejg.3_Missense_Mutation_p.K320N|ARMCX5_uc022caw.1_Missense_Mutation_p.K320N|ARMCX5_uc022cax.1_Missense_Mutation_p.K320N|ARMCX5-GPRASP2_uc022cay.1_Intron|ARMCX5_uc022caz.1_Missense_Mutation_p.K320N|ARMCX5_uc022cba.1_Missense_Mutation_p.K320N|ARMCX5_uc004ejh.3_Missense_Mutation_p.K320N	NM_022838	NP_073749	Q6P1M9	ARMX5_HUMAN	Homo sapiens armadillo repeat containing, X-linked 5 (ARMCX5), transcript variant 2, mRNA.	320							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						CCCTCCTTAAGTTAACTAAGG	0.383													C	101858029	G	C	101858029	3	2	167	1	0	0	0	0	1	0	0	0	967	1020	36	4	962	4	ARMCX5	23	101858029	Missense_Mutation	SNP	G	TCGA-19-5954-01A-11D-1696-08	17	101858029	53412531	88	11676			1	29		2	2	18	N	G_C	4.997173e-05
SLITRK4	139065	broad.mit.edu	37	chrX	142717642	142717642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccattgagatatagcctgCgtaaattagtgagattgtga	12	13	11	5	1	0	3	0	3	0	2	0	5	0	3	2	0	3	1	2	0	5	6			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:142717642C>T	uc022cfm.1	-	0	1283	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	SLITRK4_uc022cfl.1_Missense_Mutation_p.R428H|SLITRK4_uc004fbx.3_Missense_Mutation_p.R428H|SLITRK4_uc004fby.3_Missense_Mutation_p.R428H	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	428						integral to membrane		p.R428R(1)		autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					ATATAGCCTGCGTAAATTAGT	0.358													T	142717642	C	T	142717642	3	4	167	1	0	0	0	0	1	0	0	0	14839	768	27	1	1234	1	SLITRK4	23	142717642	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	40859613	142717642	12552918	89	11677											
PASD1	139135	broad.mit.edu	37	chrX	150828252	150828252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcacatgtttgtagattCtgattcaacttattgctcca	9	17	6	9	1	3	2	2	1	1	1	4	2	4	2	1	0	2	4	1	0	3	7			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:150828252C>A	uc004fev.4	+	9	1117	c.785C>A	c.(784-786)tCt>tAt	p.S262Y		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	262						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGTAGATTCTGATTCAACT	0.373													A	150828252	C	A	150828252	3	1	167	1	0	0	0	0	1	0	0	0	11547	913	32	4	819	4	PASD1	23	150828252	Missense_Mutation	SNP	C	TCGA-19-5954-01A-11D-1696-08	8110610	150828252	4442308	90	11678											
DUSP9	1852	broad.mit.edu	37	chrX	152915703	152915703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctgcggcctccaacccGccctccttcttcaccacccc	5	8	5	23	2	3	0	1	0	2	0	5	0	5	0	8	1	2	1	8	1	1	2			TCGA-19-5954-01A-11D-1696-08	TCGA-19-5954-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cfd4e06e-203f-4a6f-8aa9-60828e0d4d68	868686a8-f6d2-4ed3-b1a7-49bf9da29e22	g.chrX:152915703G>A	uc004fhx.4	+	3	1302	c.1098G>A	c.(1096-1098)ccG>ccA	p.P366P	DUSP9_uc004fhy.4_Silent_p.P366P	NM_001395	NP_001386	Q99956	DUS9_HUMAN	Homo sapiens dual specificity phosphatase 9 (DUSP9), mRNA.	366	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCCAACCCGCCCTCCTTCT	0.716													A	152915703	G	A	152915703	2	1	167	1	0	0	0	0	0	0	0	1	4871	1074	38	1		1	DUSP9	23	152915703	Silent	SNP	G	TCGA-19-5954-01A-11D-1696-08	2087451	152915703	2354857	91	11679											
CLCN6	1185	broad.mit.edu	37	chr1	11897139	11897139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatccagcgagctacggaaCatgtgtgatgagcacatcgc	11	7	11	12	3	0	2	0	2	0	0	2	4	1	3	2	1	5	2	2	1	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:11897139C>T	uc001ate.4	+	18	2177	c.2064C>T	c.(2062-2064)aaC>aaT	p.N688N	CLCN6_uc010oat.2_Silent_p.N404N|CLCN6_uc010oau.2_Silent_p.N666N	NM_001286	NP_001277	P51797	CLCN6_HUMAN	Homo sapiens chloride channel 6 (CLCN6), transcript variant ClC-6a, mRNA.	688					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AGCTACGGAACATGTGTGATG	0.632													T	11897139	C	T	11897139	2	4	168	1	0	0	0	0	0	0	0	1	3498	477	17	2		2	CLCN6	1	11897139	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		11897139	237353482	1	11680											
PADI3	51702	broad.mit.edu	37	chr1	17609431	17609431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcctggaggagaaggtgCggtccctgctggagccgctg	5	7	18	11	2	0	1	0	0	0	1	1	4	1	3	3	5	4	3	3	5	1	0	rs144763474	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:17609431C>T	uc001bai.3	+	15	1892	c.1852C>T	c.(1852-1854)Cgg>Tgg	p.R618W		NM_016233	NP_057317	Q9ULW8	PADI3_HUMAN	Homo sapiens peptidyl arginine deiminase, type III (PADI3), mRNA.	618			R -> Q (in dbSNP:rs35624745).		peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GGAGAAGGTGCGGTCCCTGCT	0.602													T	17609431	C	T	17609431	3	4	168	1	0	0	0	0	1	0	0	0	11455	759	27	1	1914	1	PADI3	1	17609431	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	5712292	17609431	231641190	2	11681											
CNR2	1269	broad.mit.edu	37	chr1	24202118	24202118	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctccatggggtgggccCttcagattccactgagcttg	6	12	11	12	0	1	2	1	1	0	1	4	2	4	2	4	3	1	1	4	3	0	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:24202118C>A	uc021oij.1	-						CNR2_uc001bif.3_5'UTR	NM_001841	NP_001832	P34972	CNR2_HUMAN	Homo sapiens cannabinoid receptor 2 (macrophage) (CNR2), mRNA.						behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GGGGTGGGCCCTTCAGATTCC	0.458													A	24202118	C	A	24202118	1	1	168	1	0	0	0	0	0	0	0	0	3663	696	24	4		4	CNR2	1	24202118	Translation_Start_Site	SNP	C	TCGA-19-5955-01A-11D-1696-08	6592687	24202118	225048503	3	11682											
TMEM57	55219	broad.mit.edu	37	chr1	25784890	25784890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtattgtagcagccaaaGgattacctgatatggattct	11	14	10	6	0	1	1	0	1	1	0	1	3	1	3	2	3	3	3	2	3	5	7			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:25784890G>A	uc001bkk.3	+	5	863	c.661G>A	c.(661-663)Gga>Aga	p.G221R	TMEM57_uc009vru.3_Intron|TMEM57_uc009vrv.3_Intron|TMEM57_uc009vrt.2_Non-coding_Transcript	NM_018202	NP_060672	Q8N5G2	MACOI_HUMAN	Homo sapiens transmembrane protein 57 (TMEM57), mRNA.	221						axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGCCAAAGGATTACCTGA	0.378													A	25784890	G	A	25784890	3	1	168	1	0	0	0	0	1	0	0	0	16284	1001	35	2	683	2	TMEM57	1	25784890	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	1582772	25784890	223465731	4	11683											
C1orf173	127254	broad.mit.edu	37	chr1	75037396	75037396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccacaacccttcctcctCccatgccctcattcttttgt	6	13	3	19	0	2	0	1	0	1	0	5	0	5	0	6	0	3	0	6	0	1	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:75037396C>T	uc001dgg.3	-	13	4217	c.3998G>A	c.(3997-3999)gGa>gAa	p.G1333E		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	1333	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTCCTCCTCCCATGCCCTC	0.562													T	75037396	C	T	75037396	3	4	168	1	0	0	0	0	1	0	0	0	2034	855	30	2	598	2	C1orf173	1	75037396	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	49252506	75037396	174213225	5	11684											
FNDC7	163479	broad.mit.edu	37	chr1	109270578	109270578	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgacactactcctgcGtgcaccctttcggctctaga	8	11	8	14	2	1	2	0	1	1	1	3	2	2	2	2	1	4	3	2	1	3	3	rs151239518	by1000genomes	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:109270578G>A	uc001dvx.3	+	6	1260	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	FNDC7_uc010ova.2_Silent_p.A187A	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN	Homo sapiens fibronectin type III domain containing 7 (FNDC7), mRNA.	421	Fibronectin type-III 5.					extracellular region				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		CTACTCCTGCGTGCACCCTTT	0.483													A	109270578	G	A	109270578	2	1	168	1	0	0	0	0	0	0	0	1	6022	1132	40	1		1	FNDC7	1	109270578	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	34233182	109270578	139980043	6	11685											
FLG	2312	broad.mit.edu	37	chr1	152276186	152276186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtactgggcccagcccGtccatgggcagactcagact	8	7	11	15	1	1	2	1	0	0	2	3	2	3	2	4	2	2	2	4	2	1	1	rs145171931	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:152276186G>A	uc001ezu.1	-	2	11212	c.11176C>T	c.(11176-11178)Cgg>Tgg	p.R3726W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3726	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAGCCCGTCCATGGGCA	0.607									Ichthyosis				A	152276186	G	A	152276186	3	1	168	1	0	0	0	0	1	0	0	0	5971	1144	40	1	1013	1	FLG	1	152276186	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	43005608	152276186	96974435	7	11686											
NUF2	83540	broad.mit.edu	37	chr1	163306614	163306614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaagcatgccgtgaaacGtatatggaatttctttggca	13	11	11	6	2	1	2	0	1	1	1	1	4	1	3	1	2	3	3	1	2	5	4	rs148215962		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:163306614G>A	uc001gcq.1	+	5	711	c.411G>A	c.(409-411)acG>acA	p.T137T	NUF2_uc001gcr.1_Silent_p.T137T	NM_145697	NP_663735	Q9BZD4	NUF2_HUMAN	Homo sapiens NUF2, NDC80 kinetochore complex component, homolog (S. cerevisiae) (NUF2), transcript variant 1, mRNA.	137	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					GCCGTGAAACGTATATGGAAT	0.313													A	163306614	G	A	163306614	2	1	168	1	0	0	0	0	0	0	0	1	10823	1132	40	1		1	NUF2	1	163306614	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	11030428	163306614	85944007	8	11687											
PAPPA2	60676	broad.mit.edu	37	chr1	176734853	176734853	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtccgtcattgctgctTgatcatgctgatgtggtgaa	7	14	12	8	1	2	3	2	3	0	0	3	3	3	3	1	1	4	4	1	1	1	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:176734853T>C	uc001gkz.3	+	14	5367	c.4203T>C	c.(4201-4203)ctT>ctC	p.L1401L	PAPPA2_uc009www.3_Non-coding_Transcript	NM_020318	NP_064714	Q9BXP8	PAPP2_HUMAN	Homo sapiens pappalysin 2 (PAPPA2), transcript variant 1, mRNA.	1401	Sushi 1.				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						CATTGCTGCTTGATCATGCTG	0.507													C	176734853	T	C	176734853	2	2	168	1	0	0	0	0	0	0	0	1	11509	1799	63	3		3	PAPPA2	1	176734853	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	13428239	176734853	72515768	9	11688											
SLC45A3	85414	broad.mit.edu	37	chr1	205632180	205632180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttccggaaagccaagcGggcccggcatggacagcagt	10	4	15	12	3	0	0	0	0	0	0	1	2	1	2	3	5	3	3	3	5	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:205632180G>A	uc001hda.1	-	2	1078	c.739C>T	c.(739-741)Cgc>Tgc	p.R247C	SLC45A3_uc010prn.1_5'Flank|SLC45A3_uc010pro.1_Missense_Mutation_p.R81C|SLC45A3_uc010prp.1_Intron|SLC45A3_uc010prq.1_Intron	NM_033102	NP_149093	Q96JT2	S45A3_HUMAN	Homo sapiens solute carrier family 45, member 3 (SLC45A3), mRNA.	247					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AAAGCCAAGCGGGCCCGGCAT	0.716			T	"ETV1, ETV5, ELK4, ERG"	prostate								A	205632180	G	A	205632180	3	1	168	1	0	0	0	0	1	0	0	0	14736	1116	39	1	934	1	SLC45A3	1	205632180	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	28897327	205632180	43618441	10	11689											
LEFTY2	7044	broad.mit.edu	37	chr1	226125177	226125177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcacgagcgccccatcCgaggcacagctgcacttctg	7	7	11	16	3	1	0	0	0	1	0	2	2	2	0	3	2	3	4	3	2	0	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:226125177C>T	uc001hpt.2	-	3	1308	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	LEFTY2_uc010pvk.2_Silent_p.S321S|LEFTY2_uc009xek.2_3'UTR	NM_003240	NP_003231	O00292	LFTY2_HUMAN	Homo sapiens left-right determination factor 2 (LEFTY2), transcript variant 1, mRNA.	355					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCGCCCCATCCGAGGCACAGC	0.602													T	226125177	C	T	226125177	2	4	168	1	0	0	0	0	0	0	0	1	8775	639	23	1		1	LEFTY2	1	226125177	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	20492997	226125177	23125444	11	11690											
OR2M2	391194	broad.mit.edu	37	chr1	248343988	248343988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgggatctggagagggtcGttgcaaagctttcacgacct	9	10	13	9	2	2	1	1	0	1	1	3	4	2	2	1	3	2	3	1	3	1	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248343988G>A	uc010pzf.2	+	0	701	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R234H(4)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GGAGAGGGTCGTTGCAAAGCT	0.468													A	248343988	G	A	248343988	3	1	168	1	0	0	0	0	1	0	0	0	11086	1145	40	1	703	1	OR2M2	1	248343988	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	22218811	248343988	906633	12	11691											
OR2T27	403239	broad.mit.edu	37	chr1	248813409	248813409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtaagaatgaggcagcacGtatgtgtacatggcagcccc	11	8	13	9	1	0	2	0	1	0	1	0	2	0	2	2	3	3	6	2	3	4	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr1:248813409G>A	uc010pzo.2	-	0	777	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGCAGCACGTATGTGTACA	0.532													A	248813409	G	A	248813409	2	1	168	1	0	0	0	0	0	0	0	1	11097	1140	40	1		1	OR2T27	1	248813409	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	469421	248813409	437212	13	11692											
DCTN1	1639	broad.mit.edu	37	chr2	74598790	74598790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcagctcacctgctgaCgctgagccagaggggcccag	7	6	13	15	1	2	3	2	2	0	1	2	3	2	3	3	2	4	4	3	2	0	0			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:74598790C>T	uc002skx.3	-	7	837	c.519G>A	c.(517-519)gcG>gcA	p.A173A	DCTN1_uc002skv.3_Silent_p.A39A|DCTN1_uc002sku.3_Silent_p.A39A|DCTN1_uc002skw.2_Silent_p.A166A|DCTN1_uc010ffd.3_Silent_p.A153A|DCTN1_uc002sky.3_Silent_p.A136A	NM_004082	NP_004073	Q14203	DCTN1_HUMAN	Homo sapiens dynactin 1 (DCTN1), transcript variant 1, mRNA.	173	Ser-rich.				cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CACCTGCTGACGCTGAGCCAG	0.652													T	74598790	C	T	74598790	2	4	168	1	0	0	0	0	0	0	0	1	4340	523	19	1		1	DCTN1	2	74598790	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		74598790	168600583	14	11693											
IL1RL2	8808	broad.mit.edu	37	chr2	102849423	102849423	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccaattccttttcagAtgggaagctgtatgacgcct	8	14	9	10	1	1	2	1	1	0	1	3	3	3	3	3	1	1	2	3	1	3	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:102849423A>T	uc002tbs.3	+	10	1262	c.1136_splice	c.e10-1	p.D379_splice	IL1RL2_uc002tbt.3_Splice_Site_p.D261_splice	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	379					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCTTTTCAGATGGGAAGCTG	0.507													T	102849423	A	T	102849423	3	4	168	1	0	0	0	0	1	0	0	0	7722	347	12	5	1170	5	IL1RL2	2	102849423	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	28250633	102849423	140349950	15	11694											
TTN	7273	broad.mit.edu	37	chr2	179446667	179446667	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataagcggccttggatgcGtcactgggtttgcctggtcc	5	11	14	11	2	1	0	1	0	0	0	2	1	2	1	3	4	3	2	3	4	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179446667G>A	uc021vsy.1	-	263	58950	c.58725C>T	c.(58723-58725)gaC>gaT	p.D19575D	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.D13270D|TTN_uc021vta.1_Silent_p.D13203D|TTN_uc021vtb.1_Silent_p.D13078D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20502	Ig-like 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D13078D(1)|p.D13203D(1)|p.D19573D(1)|p.D13270D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTGGATGCGTCACTGGGTT	0.438													A	179446667	G	A	179446667	2	1	168	1	0	0	0	0	0	0	0	1	16837	1136	40	1		1	TTN	2	179446667	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	76597244	179446667	63752706	16	11695											
TTN	7273	broad.mit.edu	37	chr2	179666963	179666963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtcacggcggggatcGtcagtttagcgcggccatcg	6	10	14	11	6	2	0	2	0	0	0	4	1	2	1	1	4	1	1	1	4	2	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr2:179666963G>A	uc021vsy.1	-	2	422	c.197C>T	c.(196-198)aCg>aTg	p.T66M	TTN_uc021vsz.1_Missense_Mutation_p.T66M|TTN_uc021vta.1_Missense_Mutation_p.T66M|TTN_uc021vtb.1_Missense_Mutation_p.T66M|TTN_uc002unb.2_Missense_Mutation_p.T66M|TTN_uc002und.3_Missense_Mutation_p.T66M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	66	Ig-like 1.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCGGGGATCGTCAGTTTAGC	0.547													A	179666963	G	A	179666963	3	1	168	1	0	0	0	0	1	0	0	0	16837	1145	40	1	111231	1	TTN	2	179666963	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	220296	179666963	63532410	17	11696											
DCLK3	85443	broad.mit.edu	37	chr3	36779980	36779980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcttgggggtctcGgtctccccacagcggtggtc	3	10	14	14	2	3	0	0	0	3	0	6	0	3	0	2	5	3	2	2	5	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:36779980G>A	uc003cgi.2	-	1	662	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	57						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGGGGTCTCGGTCTCCCCAC	0.617													A	36779980	G	A	36779980	2	1	168	1	0	0	0	0	0	0	0	1	4327	1103	39	1		1	DCLK3	3	36779980	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		36779980	161242450	18	11697											
GOLGA4	2803	broad.mit.edu	37	chr3	37360647	37360647	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaagaagcttcagaccCgagaaagggaatttcaggaa	16	6	11	8	1	2	4	2	1	0	3	2	7	2	6	2	2	1	1	2	2	5	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:37360647C>T	uc003cgv.3	+	11	1867	c.1507C>T	c.(1507-1509)Cga>Tga	p.R503*	GOLGA4_uc010hgr.2_Intron|GOLGA4_uc003cgw.3_Nonsense_Mutation_p.R525*|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Nonsense_Mutation_p.R384*	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	503	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCTTCAGACCCGAGAAAGGGA	0.378													T	37360647	C	T	37360647	4	4	168	1	0	0	0	0	0	1	0	0	6611	644	23	1	1623	1	GOLGA4	3	37360647	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	580667	37360647	160661783	19	11698											
VIPR1	7433	broad.mit.edu	37	chr3	42567437	42567437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacctggagcctggcccGtaccccattgcctgtggttt	5	10	11	15	2	0	0	0	0	0	0	0	1	0	1	6	3	3	3	6	3	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:42567437G>A	uc003clf.2	+	3	475	c.351G>A	c.(349-351)ccG>ccA	p.P117P	VIPR1_uc021wwl.1_Silent_p.P76P|VIPR1_uc011azn.2_Silent_p.P90P|VIPR1_uc011azl.1_Silent_p.P70P|VIPR1_uc011azm.1_5'UTR	NM_004624	NP_001238811	P32241	VIPR1_HUMAN	Homo sapiens vasoactive intestinal peptide receptor 1 (VIPR1), transcript variant 1, mRNA.	117					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		AGCCTGGCCCGTACCCCATTG	0.662													A	42567437	G	A	42567437	2	1	168	1	0	0	0	0	0	0	0	1	17271	1132	40	1		1	VIPR1	3	42567437	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	5206790	42567437	155454993	20	11699											
GRM2	2912	broad.mit.edu	37	chr3	51746533	51746533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatcccacagattagctaCgcctctaccagtgccaagct	11	8	7	15	1	1	2	0	0	1	2	2	2	2	2	4	0	5	2	4	0	4	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:51746533C>T	uc010hlv.3	+	2	734	c.495C>T	c.(493-495)taC>taT	p.Y165Y	GRM2_uc003dbo.4_Intron|GRM2_uc010hlu.3_Non-coding_Transcript	NM_000839	NP_000830	Q14416	GRM2_HUMAN	Homo sapiens glutamate receptor, metabotropic 2 (GRM2), transcript variant 1, mRNA.	165					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	AGATTAGCTACGCCTCTACCA	0.532													T	51746533	C	T	51746533	2	4	168	1	0	0	0	0	0	0	0	1	6852	547	19	1		1	GRM2	3	51746533	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	9179096	51746533	146275897	21	11700											
TRAT1	50852	broad.mit.edu	37	chr3	108572525	108572525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagcgttaaggggaagcGtagaaagcccaggaaacaga	16	4	13	8	2	1	2	1	0	0	2	1	4	1	4	1	3	4	2	1	3	5	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:108572525G>A	uc003dxi.1	+	5	506	c.362G>A	c.(361-363)cGt>cAt	p.R121H	TRAT1_uc010hpx.1_Missense_Mutation_p.R84H	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	121					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AAGGGGAAGCGTAGAAAGCCC	0.423													A	108572525	G	A	108572525	3	1	168	1	0	0	0	0	1	0	0	0	16567	1145	40	1	384	1	TRAT1	3	108572525	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	56825992	108572525	89449905	22	11701											
GPR156	165829	broad.mit.edu	37	chr3	119962857	119962857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcacttacaattgttGtcttgcagagatcatgaagg	10	13	10	8	0	3	2	2	1	1	1	3	3	3	2	0	1	3	4	0	1	3	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:119962857G>A	uc011bjf.2	-	0	469	c.89C>T	c.(88-90)aCa>aTa	p.T30I	GPR156_uc011bjg.2_Missense_Mutation_p.T30I	NM_153002	NP_694547	Q8NFN8	GP156_HUMAN	Homo sapiens G protein-coupled receptor 156 (GPR156), transcript variant 1, mRNA.	30						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		TACAATTGTTGTCTTGCAGAG	0.537													A	119962857	G	A	119962857	3	1	168	1	0	0	0	0	1	0	0	0	6715	1377	48	2	2391	2	GPR156	3	119962857	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	11390332	119962857	78059573	23	11702											
DBR1	51163	broad.mit.edu	37	chr3	137890532	137890532	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgatccttacacctcGgtattttaccacaccagcca	10	10	4	17	2	0	0	0	0	0	0	3	1	2	0	7	1	3	1	7	1	3	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:137890532G>A	uc003erv.3	-	2	500	c.346C>T	c.(346-348)Cga>Tga	p.R116*	DBR1_uc003eru.3_Nonsense_Mutation_p.R65*	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	116						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CTTACACCTCGGTATTTTACC	0.343													A	137890532	G	A	137890532	4	1	168	1	0	0	0	0	0	1	0	0	4291	1124	39	1	1312	1	DBR1	3	137890532	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	17927675	137890532	60131898	24	11703											
CLSTN2	64084	broad.mit.edu	37	chr3	140185512	140185512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgtctttctcttgcGgaaggacttcgaccaggctg	5	11	11	14	4	2	0	0	0	2	0	5	3	2	2	3	3	1	1	3	3	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:140185512G>A	uc003etn.3	+	7	1473	c.1283G>A	c.(1282-1284)cGg>cAg	p.R428Q	CLSTN2_uc003etm.2_Missense_Mutation_p.R428Q	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	428					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TTTCTCTTGCGGAAGGACTTC	0.542										HNSCC(16;0.037)			A	140185512	G	A	140185512	3	1	168	1	0	0	0	0	1	0	0	0	3593	1116	39	1	1313	1	CLSTN2	3	140185512	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	2294980	140185512	57836918	25	11704											
ZBBX	79740	broad.mit.edu	37	chr3	167083682	167083682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcttcttaccttaacaaCatttcctttattttgtgaca	10	19	3	9	0	2	1	0	1	2	0	3	1	3	1	2	0	3	1	2	0	5	9			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr3:167083682C>A	uc011bpc.2	-	5	602	c.265G>T	c.(265-267)Gtt>Ttt	p.V89F	ZBBX_uc003feq.3_Missense_Mutation_p.V60F|ZBBX_uc003fep.3_Missense_Mutation_p.V89F	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	89						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACCTTAACAACATTTCCTTTA	0.294													A	167083682	C	A	167083682	3	1	168	1	0	0	0	0	1	0	0	0	17618	478	17	4	2201	4	ZBBX	3	167083682	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	26898170	167083682	30938748	26	11705											
FRYL	285527	broad.mit.edu	37	chr4	48559529	48559529	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcttgtggagatccccAtccttctccccgtaaccagc	7	10	9	15	1	1	1	0	0	1	1	4	2	3	1	6	2	2	2	6	2	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:48559529A>C	uc003gyh.1	-	33	4671	c.4066T>G	c.(4066-4068)Tgg>Ggg	p.W1356G	FRYL_uc003gyk.3_Missense_Mutation_p.W1356G|FRYL_uc003gyg.1_Missense_Mutation_p.W52G|FRYL_uc003gyi.1_Missense_Mutation_p.W245G	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	1356					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.W1356G(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GGAGATCCCCATCCTTCTCCC	0.423													C	48559529	A	C	48559529	3	2	168	1	0	0	0	0	1	0	0	0	6116	217	8	5	5099	5	FRYL	4	48559529	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08		48559529	142594747	27	11706											
CWH43	80157	broad.mit.edu	37	chr4	49040170	49040170	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggctccagagattatctAcagctcactgaacatggcaa	12	9	8	12	0	2	2	1	1	1	1	3	3	3	2	2	2	3	3	2	2	4	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:49040170A>C	uc003gyv.3	+	12	1958	c.1776A>C	c.(1774-1776)ctA>ctC	p.L592L	CWH43_uc011bzl.2_Silent_p.L565L	NM_025087	NP_079363	Q9H720	PG2IP_HUMAN	Homo sapiens cell wall biogenesis 43 C-terminal homolog (S. cerevisiae) (CWH43), mRNA.	592					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GAGATTATCTACAGCTCACTG	0.323													C	49040170	A	C	49040170	2	2	168	1	0	0	0	0	0	0	0	1	4106	378	14	5		5	CWH43	4	49040170	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	480641	49040170	142114106	28	11707											
CSN2	1447	broad.mit.edu	37	chr4	70823249	70823249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagaggcagaggaagatGcagattttcaagatcagtga	15	7	14	5	0	2	6	2	1	0	5	2	8	2	7	0	2	2	3	0	2	2	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:70823249G>T	uc003hes.4	-	4	431	c.418C>A	c.(418-420)Cat>Aat	p.H140N	CSN2_uc003het.4_Missense_Mutation_p.H139N	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	140				H -> Q (in Ref. 3; CAA34916).	calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AGAGGAAGATGCAGATTTTCA	0.507													T	70823249	G	T	70823249	3	4	168	1	0	0	0	0	1	0	0	0	3981	1319	46	4	270	4	CSN2	4	70823249	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	21783079	70823249	120331027	29	11708											
WDFY3	23001	broad.mit.edu	37	chr4	85719250	85719250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttaaaggacttgccaaaCgtaaaaactccctaagaaag	19	8	6	8	1	0	1	0	0	0	1	1	2	1	2	2	1	3	1	2	1	9	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:85719250C>T	uc003hpd.3	-	17	3242	c.2834G>A	c.(2833-2835)cGt>cAt	p.R945H		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	945						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	p.R945H(2)		breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACTTGCCAAACGTAAAAACTC	0.313													T	85719250	C	T	85719250	3	4	168	1	0	0	0	0	1	0	0	0	17372	536	19	1	7950	1	WDFY3	4	85719250	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	14896001	85719250	105435026	30	11709											
ADAM29	11086	broad.mit.edu	37	chr4	175898963	175898963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccagagtcaacctcctGtgacaccctcccagagtcaa	10	8	6	17	0	2	3	2	1	0	2	5	3	5	3	5	0	1	0	5	0	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr4:175898963G>C	uc003iuc.3	+	4	2957	c.2287G>C	c.(2287-2289)Gtg>Ctg	p.V763L	ADAM29_uc003iud.3_Missense_Mutation_p.V763L|ADAM29_uc010irr.3_Missense_Mutation_p.V763L|ADAM29_uc011cki.2_Missense_Mutation_p.V763L|ADAM29_uc021xuo.1_Missense_Mutation_p.V763L	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	763	9 X 9 AA approximate repeats.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V763M(2)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		TCAACCTCCTGTGACACCCTC	0.567													C	175898963	G	C	175898963	3	2	168	1	0	0	0	0	1	0	0	0	247	1377	48	4	2289	4	ADAM29	4	175898963	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	90179713	175898963	15255313	31	11710											
PIK3R1	5295	broad.mit.edu	37	chr5	67591246	67591246	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcaaaactgtttttcAggtggttgactcaaaaaggt	11	16	8	6	0	4	1	3	1	1	0	4	1	4	1	0	3	1	2	0	3	4	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:67591246A>G	uc003jva.3	+	14	2326	c.1746_splice	c.e14-2	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(10)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACTGTTTTTCAGGTGGTTGAC	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591246	A	G	67591246	5	3	168	1	0	0	0	0	0	0	1	0	11995	202	7	3	1924	3	PIK3R1	5	67591246	Splice_Site	SNP	A	TCGA-19-5955-01A-11D-1696-08		67591246	113324014	32	11711											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709074	101709074	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttacaagtcagtttcttcTtttttcttaacttttggatt	8	22	5	6	0	4	0	1	0	3	0	4	1	4	1	0	1	2	2	0	1	3	10	rs146381310	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:101709074T>C	uc003knn.3	-	12	2314	c.2142A>G	c.(2140-2142)aaA>aaG	p.K714K	SLCO6A1_uc003kno.3_Silent_p.K461K|SLCO6A1_uc003knp.3_Silent_p.K714K|SLCO6A1_uc003knq.3_Silent_p.K652K	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	714						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CAGTTTCTTCTTTTTTCTTAA	0.274													C	101709074	T	C	101709074	2	2	168	1	0	0	0	0	0	0	0	1	14826	1606	56	3		3	SLCO6A1	5	101709074	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	34117828	101709074	79206186	33	11712											
PCDHAC2	56138	broad.mit.edu	37	chr5	140249928	140249928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggacagcgccctggacCgcgagaacgtgtgggcctat	7	7	15	12	4	0	1	0	0	0	1	0	4	0	3	3	3	3	1	3	3	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140249928C>A	uc003lia.2	+	0	2098	c.1240C>A	c.(1240-1242)Cgc>Agc	p.R414S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.R414S	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGGACCGCGAGAACGT	0.627													A	140249928	C	A	140249928	3	1	168	1	0	0	0	0	1	0	0	0	11609	652	23	4		4	PCDHAC2	5	140249928	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	38540854	140249928	40665332	34	11713											
PCDHAC2	56138	broad.mit.edu	37	chr5	140250294	140250294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacagttccaggtgagcGcgcgcgatgcgggcgtgccg	5	7	17	12	7	0	1	0	1	0	0	1	2	1	1	2	2	5	2	2	2	1	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140250294G>A	uc003lia.2	+	0	2464	c.1606G>A	c.(1606-1608)Gcg>Acg	p.A536T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A536T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGGTGAGCGCGCGCGATGC	0.672													A	140250294	G	A	140250294	3	1	168	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140250294	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	366	140250294	40664966	35	11714											
PCDHB7	56129	broad.mit.edu	37	chr5	140553185	140553185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcccgaaaatagccccGttggttccatggttgtctcc	7	11	11	12	2	1	0	0	0	1	0	3	1	2	0	5	3	2	3	5	3	3	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140553185G>A	uc003lit.3	+	0	943	c.769G>A	c.(769-771)Gtt>Att	p.V257I		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	257	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATAGCCCCGTTGGTTCCAT	0.502													A	140553185	G	A	140553185	3	1	168	1	0	0	0	0	1	0	0	0	11623	1145	40	1	771	1	PCDHB7	5	140553185	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	302891	140553185	40362075	36	11715											
PCDHB14	56122	broad.mit.edu	37	chr5	140605446	140605446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggaaatcgagaactttcGaaatagctttggacttaaca	14	10	11	6	2	0	1	0	0	0	1	2	5	0	3	0	3	3	1	0	3	5	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr5:140605446G>A	uc003ljb.3	+	0	2369	c.2369G>A	c.(2368-2370)cGa>cAa	p.R790Q		NM_018934	NP_061757	Q9Y5E9	PCDBE_HUMAN	Homo sapiens protocadherin beta 14 (PCDHB14), mRNA.	790					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.R790*(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAACTTTCGAAATAGCTTT	0.348													A	140605446	G	A	140605446	3	1	168	1	0	0	0	0	1	0	0	0	11615	1058	37	1	2371	1	PCDHB14	5	140605446	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	52261	140605446	40309814	37	11716											
BTBD9	114781	broad.mit.edu	37	chr6	38256068	38256068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtattgacccaatcatgtaCggttgtgccaactgaaccac	11	10	8	12	2	1	2	1	2	0	0	1	2	1	2	3	1	4	3	3	1	5	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:38256068C>T	uc003ooa.4	-	8	2010	c.1434G>A	c.(1432-1434)ccG>ccA	p.P478P	BTBD9_uc010jwv.3_Silent_p.P448P|BTBD9_uc003ony.4_Silent_p.P410P|BTBD9_uc010jww.3_Non-coding_Transcript|BTBD9_uc010jwx.3_Silent_p.P478P	NM_052893	NP_689946	Q96Q07	BTBD9_HUMAN	Homo sapiens BTB (POZ) domain containing 9 (BTBD9), transcript variant 1, mRNA.	478					cell adhesion					breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	12						CAATCATGTACGGTTGTGCCA	0.398													T	38256068	C	T	38256068	2	4	168	1	0	0	0	0	0	0	0	1	1558	523	19	1		1	BTBD9	6	38256068	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		38256068	132858999	38	11717											
PKHD1	5314	broad.mit.edu	37	chr6	51524416	51524416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgtgggggctctggAgctcatggtagaatacagcc	11	7	15	8	1	2	3	1	0	1	3	2	4	2	4	1	4	3	3	1	4	4	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:51524416A>G	uc003pah.1	-	60	10784	c.10508T>C	c.(10507-10509)cTc>cCc	p.L3503P		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3503					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGGCTCTGGAGCTCATGGTA	0.438													G	51524416	A	G	51524416	3	3	168	1	0	0	0	0	1	0	0	0	12048	304	11	3	1744	3	PKHD1	6	51524416	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	13268348	51524416	119590651	39	11718											
DOPEY1	23033	broad.mit.edu	37	chr6	83847935	83847935	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgccatcaaagccatcTtgaaaactaaccctatagct	13	11	4	13	0	3	1	1	1	2	0	4	1	3	1	3	0	5	1	3	0	6	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr6:83847935T>C	uc011dyy.2	+	20	4407	c.4147T>C	c.(4147-4149)Ttg>Ctg	p.L1383L	DOPEY1_uc003pjs.1_Silent_p.L1392L|DOPEY1_uc010kbl.1_Silent_p.L1383L|DOPEY1_uc003pjt.3_Non-coding_Transcript	NM_001199942	NP_001186871	Q5JWR5	DOP1_HUMAN	Homo sapiens dopey family member 1 (DOPEY1), transcript variant 2, mRNA.	1392					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		CAAAGCCATCTTGAAAACTAA	0.383													C	83847935	T	C	83847935	2	2	168	1	0	0	0	0	0	0	0	1	4746	1606	56	3		3	DOPEY1	6	83847935	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	32323519	83847935	87267132	40	11719											
IKZF1	10320	broad.mit.edu	37	chr7	50468241	50468241	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgtgatccttttgagtgCaacatgtgcggctaccacag	8	12	10	11	2	0	2	0	2	0	0	2	2	2	2	3	1	4	2	3	1	2	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:50468241C>A	uc003tow.4	+	7	1631	c.1476C>A	c.(1474-1476)tgC>tgA	p.C492*	IKZF1_uc022acq.1_Nonsense_Mutation_p.C349*|IKZF1_uc003tpa.4_Nonsense_Mutation_p.C257*|IKZF1_uc022acr.1_Nonsense_Mutation_p.C267*|IKZF1_uc022acs.1_Nonsense_Mutation_p.C222*|IKZF1_uc022act.1_Nonsense_Mutation_p.C395*|IKZF1_uc022acu.1_Nonsense_Mutation_p.C405*|IKZF1_uc003tox.4_Nonsense_Mutation_p.C450*|IKZF1_uc022acv.1_Nonsense_Mutation_p.C353*|IKZF1_uc022acw.1_Nonsense_Mutation_p.C363*|IKZF1_uc022acx.1_Nonsense_Mutation_p.C405*|IKZF1_uc022acy.1_Nonsense_Mutation_p.C299*|IKZF1_uc022acz.1_Nonsense_Mutation_p.C309*|IKZF1_uc011kck.2_Nonsense_Mutation_p.C405*|IKZF1_uc003toy.4_Nonsense_Mutation_p.C450*|IKZF1_uc003toz.4_Nonsense_Mutation_p.C462*|IKZF1_uc010kyx.3_Nonsense_Mutation_p.C232*	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	492					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CTTTTGAGTGCAACATGTGCG	0.592			"D,T"	BCL6	"ALL, DLBCL"								A	50468241	C	A	50468241	4	1	168	1	0	0	0	0	0	1	0	0	7672	718	25	4	1502	4	IKZF1	7	50468241	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		50468241	108670422	41	11720											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97944874	97944874	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctctttgcaaccatcTgcaatgaatttctggatttc	10	14	7	10	0	3	2	0	1	3	1	4	3	3	3	2	1	4	2	2	1	3	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:97944874T>C	uc003upj.3	-	6	800	c.537A>G	c.(535-537)gcA>gcG	p.A179A		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	179	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			TGCAACCATCTGCAATGAATT	0.358													C	97944874	T	C	97944874	2	2	168	1	0	0	0	0	0	0	0	1	1307	1567	55	3		3	BAIAP2L1	7	97944874	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	47476633	97944874	61193789	42	11721											
CLDN15	24146	broad.mit.edu	37	chr7	100877603	100877603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtggccgccagcttggctTtcctggagagctccaggccc	4	8	14	15	2	0	1	0	0	0	1	2	2	2	1	5	5	2	3	5	5	0	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:100877603T>C	uc003uyg.2	-	1	703	c.338A>G	c.(337-339)aAa>aGa	p.K113R	CLDN15_uc003uyh.2_Missense_Mutation_p.K113R|CLDN15_uc003uyi.3_3'UTR|CLDN15_uc022aja.1_3'UTR	NM_014343	NP_001172009	P56746	CLD15_HUMAN	Homo sapiens claudin 15 (CLDN15), transcript variant 2, mRNA.	113					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					CAGCTTGGCTTTCCTGGAGAG	0.662													C	100877603	T	C	100877603	3	2	168	1	0	0	0	0	1	0	0	0	3507	1841	64	3	364	3	CLDN15	7	100877603	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	2932729	100877603	58261060	43	11722											
GRM8	2918	broad.mit.edu	37	chr7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccatcaatggtactcattCgtggacaaaggccaatgtat	12	11	8	10	1	2	0	2	0	0	0	4	1	3	1	2	3	1	2	2	3	5	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr7:126409978C>T	uc003vlr.2	-	5	1609	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.R433Q|GRM8_uc010lkz.1_Non-coding_Transcript|GRM8_uc003vlu.1_Missense_Mutation_p.R154Q	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	433					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)			T	126409978	C	T	126409978	3	4	168	1	0	0	0	0	1	0	0	0	6858	884	31	1	1498	1	GRM8	7	126409978	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	25532375	126409978	32728685	44	11723											
STC1	6781	broad.mit.edu	37	chr8	23702306	23702306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcactctcatgggatgtgcGtttgatgtgggagggagagt	7	12	17	5	1	1	2	1	1	1	1	2	5	1	4	0	3	2	2	0	3	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:23702306G>A	uc003xdw.1	-	3	1005	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_003155	NP_003146	P52823	STC1_HUMAN	Homo sapiens stanniocalcin 1 (STC1), mRNA.	241					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.R241H(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TGGGATGTGCGTTTGATGTGG	0.507													A	23702306	G	A	23702306	3	1	168	1	0	0	0	0	1	0	0	0	15371	1145	40	1	26	1	STC1	8	23702306	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		23702306	122661716	45	11724											
EBF2	64641	broad.mit.edu	37	chr8	25718727	25718727	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcaatgtctgcggctcGcttcaaaatgatgtcctaca	10	12	8	11	2	3	1	2	1	1	0	5	1	4	1	1	1	3	3	1	1	4	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:25718727G>A	uc003xes.2	-	12	1445	c.1180C>T	c.(1180-1182)Cga>Tga	p.R394*	DOCK5_uc003xek.3_Intron|EBF2_uc010lug.2_Non-coding_Transcript	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	394					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TCTGCGGCTCGCTTCAAAATG	0.488													A	25718727	G	A	25718727	4	1	168	1	0	0	0	0	0	1	0	0	4920	1095	38	1	563	1	EBF2	8	25718727	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	2016421	25718727	120645295	46	11725											
LYN	4067	broad.mit.edu	37	chr8	56866431	56866431	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagattggagaaggcttgTattagtcccaagccacagaa	15	8	11	7	0	0	4	0	0	0	4	1	5	1	4	2	2	1	2	2	2	6	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:56866431T>C	uc003xsk.4	+	7	960	c.678T>C	c.(676-678)tgT>tgC	p.C226C	LYN_uc003xsl.4_Silent_p.C205C	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	226	SH2.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AGAAGGCTTGTATTAGTCCCA	0.478													C	56866431	T	C	56866431	2	2	168	1	0	0	0	0	0	0	0	1	9178	1644	57	3		3	LYN	8	56866431	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	31147704	56866431	89497591	47	11726											
PRDM14	63978	broad.mit.edu	37	chr8	70980585	70980585	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaacacaccaaaatgTgggacttcaccaaacaccgt	15	6	7	13	1	1	1	1	0	0	1	1	2	1	2	3	1	3	1	3	1	4	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:70980585T>C	uc003xym.3	-	3	994	c.792A>G	c.(790-792)ccA>ccG	p.P264P		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	264	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CACCAAAATGTGGGACTTCAC	0.488													C	70980585	T	C	70980585	2	2	168	1	0	0	0	0	0	0	0	1	12541	1683	59	3		3	PRDM14	8	70980585	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	14114154	70980585	75383437	48	11727											
PABPC1	26986	broad.mit.edu	37	chr8	101730507	101730507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtccaaagcacgctcCgctgcaggaaggacattttc	10	9	11	11	2	0	0	0	0	0	0	3	2	2	2	2	3	2	4	2	3	2	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:101730507C>T	uc003yjs.1	-	2	698	c.194_splice	c.e2-1	p.A65_splice	PABPC1_uc011lhc.1_Splice_Site_p.A65_splice|PABPC1_uc011lhd.1_Splice_Site_p.A20_splice|PABPC1_uc003yjt.1_Splice_Site_p.A65_splice|PABPC1_uc003yju.2_Splice_Site	NM_002568	NP_002559	P11940	PABP1_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1 (PABPC1), mRNA.	65	RRM 1.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGCACGCTCCGCTGCAGGAA	0.433													T	101730507	C	T	101730507	2	4	168	1	0	0	0	0	0	0	0	1	11439	666	23	1		1	PABPC1	8	101730507	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	30749922	101730507	44633515	49	11728											
RIMS2	9699	broad.mit.edu	37	chr8	104778688	104778688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagaaaagtcgatctcaTgggctcacaagacagcattc	13	8	11	9	1	2	2	2	0	1	2	5	4	2	2	0	2	1	2	0	2	3	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr8:104778688T>C	uc003ylp.3	+	2	760	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_001100117	NP_001093587	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 1, mRNA.	238					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GTCGATCTCATGGGCTCACAA	0.443										HNSCC(12;0.0054)			C	104778688	T	C	104778688	2	2	168	1	0	0	0	0	0	0	0	1	13459	1461	51	3		3	RIMS2	8	104778688	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	3048181	104778688	41585334	50	11729											
FREM1	158326	broad.mit.edu	37	chr9	14775892	14775892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcagtcagtctgggagtcCcctcctgagtgccgataggc	8	8	13	12	1	2	1	1	1	1	0	4	3	4	2	4	2	2	1	4	2	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:14775892C>T	uc003zlm.3	-	25	5568	c.4752G>A	c.(4750-4752)ggG>ggA	p.G1584G	FREM1_uc010mic.3_Intron|FREM1_uc003zlk.3_5'Flank|FREM1_uc003zll.3_Silent_p.G120G	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	1584					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGAGTCCCCTCCTGAGT	0.512													T	14775892	C	T	14775892	2	4	168	1	0	0	0	0	0	0	0	1	6096	610	22	2		2	FREM1	9	14775892	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08		14775892	126437539	51	11730											
RRAGA	10670	broad.mit.edu	37	chr9	19050342	19050342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgcgacgtccaccggtttGagaagatcagcaacatcatc	12	7	10	12	4	2	2	2	1	0	2	4	4	3	2	2	1	3	2	2	1	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:19050342G>A	uc003znj.3	+	0	971	c.685G>A	c.(685-687)Gag>Aag	p.E229K		NM_006570	NP_006561	Q7L523	RRAGA_HUMAN	Homo sapiens Ras-related GTP binding A (RRAGA), mRNA.	229				E -> G (in Ref. 2; AAB63255).	apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CCACCGGTTTGAGAAGATCAG	0.473													A	19050342	G	A	19050342	3	1	168	1	0	0	0	0	1	0	0	0	13763	1291	45	2	687	2	RRAGA	9	19050342	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	4274450	19050342	122163089	52	11731											
TAF1L	138474	broad.mit.edu	37	chr9	32632340	32632340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacattcctctttgtaacGctcttgatgctcagccacag	8	13	7	13	1	3	2	1	2	2	0	4	2	4	2	2	0	3	3	2	0	1	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:32632340G>A	uc003zrg.1	-	0	3328	c.3238C>T	c.(3238-3240)Cgt>Tgt	p.R1080C	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1080					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	p.R1080S(2)|p.R1080H(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTTTGTAACGCTCTTGATGC	0.473													A	32632340	G	A	32632340	3	1	168	1	0	0	0	0	1	0	0	0	15620	1087	38	1	2246	1	TAF1L	9	32632340	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	13581998	32632340	108581091	53	11732											
FGD3	89846	broad.mit.edu	37	chr9	95738835	95738835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggagggcttggaggctggCccaagccccactgtactggg	7	6	17	11	0	0	0	0	0	0	0	0	3	0	2	3	6	2	3	3	6	2	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:95738835C>T	uc004asz.2	+	2	825	c.297C>T	c.(295-297)ggC>ggT	p.G99G	FGD3_uc004asw.2_Silent_p.G99G|FGD3_uc004asx.2_Silent_p.G99G	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	99					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TGGAGGCTGGCCCAAGCCCCA	0.657													T	95738835	C	T	95738835	2	4	168	1	0	0	0	0	0	0	0	1	5883	726	26	2		2	FGD3	9	95738835	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	63106495	95738835	45474596	54	11733											
ASTN2	23245	broad.mit.edu	37	chr9	119488220	119488220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcaggatcttgagaacaTtagtgaagcctggacaagag	13	9	13	6	0	2	3	1	2	1	2	2	6	2	5	1	3	2	0	1	3	4	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:119488220T>C	uc004bjt.2	-	14	2584	c.2483A>G	c.(2482-2484)aAt>aGt	p.N828S	ASTN2_uc022bml.1_Missense_Mutation_p.N524S|ASTN2_uc022bmm.1_Missense_Mutation_p.N528S	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	879						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CTTGAGAACATTAGTGAAGCC	0.542													C	119488220	T	C	119488220	3	2	168	1	0	0	0	0	1	0	0	0	1070	1493	52	3	1647	3	ASTN2	9	119488220	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	23749385	119488220	21725211	55	11734											
FCN2	2220	broad.mit.edu	37	chr9	137777089	137777089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttcccttcccaggcccGcgtacctgcaaggacctgct	5	8	11	17	3	0	0	0	0	0	0	2	1	2	1	5	3	3	4	5	3	2	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr9:137777089G>A	uc004cfg.1	+	4	316	c.306G>A	c.(304-306)ccG>ccA	p.P102P	FCN2_uc004cfh.1_Silent_p.P64P	NM_004108	NP_004099	Q15485	FCN2_HUMAN	Homo sapiens ficolin (collagen/fibrinogen domain containing lectin) 2 (hucolin) (FCN2), transcript variant SV0, mRNA.	102	Fibrinogen C-terminal.				complement activation, lectin pathway|opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|calcium-dependent protein binding|receptor binding|sugar binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	20		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.58e-08)|Epithelial(140;6.41e-08)|all cancers(34;3.96e-07)		TCCCAGGCCCGCGTACCTGCA	0.662													A	137777089	G	A	137777089	2	1	168	1	0	0	0	0	0	0	0	1	5841	1074	38	1		1	FCN2	9	137777089	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	18288869	137777089	3436342	56	11735											
MYO3A	53904	broad.mit.edu	37	chr10	26315330	26315330	+	Frame_Shift_Del	DEL	G	G	-																															ttgactaaagattatgaaaaGcgtccaacagtgtcagaact																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:26315330delG	uc001isn.2	+	9	1182	c.822delG	c.(820-822)aagfs	p.K274fs	MYO3A_uc009xko.1_Frame_Shift_Del_p.K274fs|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Frame_Shift_Del_p.K274fs	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	274	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATTATGAAAAGCGTCCAACAG	0.328													-	26315330	G	-	26315330	7	5	168	1	0	1	0	1	0	0	0	0	10152	962	34	0	852	0	MYO3A	10	26315330	Frame_Shift_Del	DEL	G	TCGA-19-5955-01A-11D-1696-08		26315330	109219417	57	11736											
PTEN	5728	broad.mit.edu	37	chr10	89725130	89725130	+	Frame_Shift_Del	DEL	C	C	-																															gtaacaccagatgttagtgaCaatgaacctgatcattatag																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:89725130delC	uc001kfb.3	+	8	2145	c.1113delC	c.(1111-1113)gacfs	p.D371fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	371					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATGTTAGTGACAATGAACCTG	0.388		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89725130	C	-	89725130	7	5	168	1	0	1	0	1	0	0	0	0	12823	477	17	0	1147	0	PTEN	10	89725130	Frame_Shift_Del	DEL	C	TCGA-19-5955-01A-11D-1696-08	63409800	89725130	45809617	58	11737											
HTR7	3363	broad.mit.edu	37	chr10	92508680	92508680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttccggttgatattcCggtactggcactggagcagg	8	10	14	9	2	0	2	0	1	0	1	2	3	2	3	2	5	3	5	2	5	2	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr10:92508680C>T	uc001kha.3	-	1	1454	c.1211G>A	c.(1210-1212)cGg>cAg	p.R404Q	HTR7_uc001kgz.3_Missense_Mutation_p.R404Q|HTR7_uc001khb.3_Missense_Mutation_p.R404Q	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	404					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity	p.R404R(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GTTGATATTCCGGTACTGGCA	0.507													T	92508680	C	T	92508680	3	4	168	1	0	0	0	0	1	0	0	0	7510	652	23	1	244	1	HTR7	10	92508680	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	2783550	92508680	43026067	59	11738											
OR4D10	390197	broad.mit.edu	37	chr11	59245250	59245250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgtattttctctttcGgtgatggcattggatcgata	7	17	12	5	2	1	1	0	1	1	0	4	4	1	3	0	4	0	2	0	4	2	6			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:59245250G>A	uc001nnz.1	+	0	348	c.348G>A	c.(346-348)tcG>tcA	p.S116S		NM_001004705	NP_001004705	Q8NGI6	OR4DA_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 10 (OR4D10), mRNA.	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTTCTCTTTCGGTGATGGCAT	0.473													A	59245250	G	A	59245250	2	1	168	1	0	0	0	0	0	0	0	1	11130	1103	39	1		1	OR4D10	11	59245250	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		59245250	75761266	60	11739											
ATM	472	broad.mit.edu	37	chr11	108199882	108199882	+	Frame_Shift_Del	DEL	G	G	-																															gaaaactacatgaaatcatcGgaatttgaaaacaagcaagc																								rs145747513	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr11:108199882delG	uc001pkb.1	+	48	7609	c.7224delG	c.(7222-7224)tcgfs	p.S2408fs	ATM_uc009yxr.1_Frame_Shift_Del_p.S2408fs|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Frame_Shift_Del_p.S1060fs|ATM_uc001pkg.1_Frame_Shift_Del_p.S765fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	2408	FAT.		S -> L (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.S2408L(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGAAATCATCGGAATTTGAAA	0.373			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			-	108199882	G	-	108199882	7	5	168	1	0	1	0	1	0	0	0	0	1114	1103	39	0	7414	0	ATM	11	108199882	Frame_Shift_Del	DEL	G	TCGA-19-5955-01A-11D-1696-08	48954632	108199882	26806634	61	11740											
ST8SIA1	6489	broad.mit.edu	37	chr12	22354787	22354787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagaactttccaatgctaCgcagaaagttggggttggca	11	10	11	9	1	0	2	0	0	0	2	2	2	2	2	2	3	3	5	2	3	4	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:22354787C>T	uc001rfo.4	-	4	1252	c.770G>A	c.(769-771)cGt>cAt	p.R257H	ST8SIA1_uc009zix.3_Missense_Mutation_p.R114H	NM_003034	NP_003025	Q92185	SIA8A_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1 (ST8SIA1), mRNA.	257					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.R257C(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						TCCAATGCTACGCAGAAAGTT	0.478													T	22354787	C	T	22354787	3	4	168	1	0	0	0	0	1	0	0	0	15327	536	19	1	304	1	ST8SIA1	12	22354787	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		22354787	111497108	62	11741											
SRGAP1	57522	broad.mit.edu	37	chr12	64502748	64502748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagagggcgcttcacatccGcaaactcctcctgactttgc	8	10	9	14	2	1	2	1	2	0	1	4	3	4	2	3	1	2	2	3	1	1	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:64502748G>A	uc010ssp.1	+	15	1906	c.1850G>A	c.(1849-1851)cGc>cAc	p.R617H	SRGAP1_uc001srv.2_Missense_Mutation_p.R554H	NM_020762	NP_065813	Q7Z6B7	SRGP1_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 1 (SRGAP1), mRNA.	617	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CTTCACATCCGCAAACTCCTC	0.463													A	64502748	G	A	64502748	3	1	168	1	0	0	0	0	1	0	0	0	15241	1087	38	1	1912	1	SRGAP1	12	64502748	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	42147961	64502748	69349147	63	11742											
GRIP1	23426	broad.mit.edu	37	chr12	66765507	66765507	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggagttggagacatgatCtcctttatttcttgtttcat	9	17	8	7	0	3	2	1	1	2	1	4	4	3	3	1	2	0	2	1	2	1	6			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:66765507C>T	uc001stk.3	-	21	3064	c.2823G>A	c.(2821-2823)gaG>gaA	p.E941E	GRIP1_uc010sta.1_Silent_p.E885E|GRIP1_uc001stj.3_Silent_p.E708E|GRIP1_uc001stm.3_Silent_p.E926E|GRIP1_uc001stl.1_Silent_p.E818E	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	993					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GAGACATGATCTCCTTTATTT	0.493													T	66765507	C	T	66765507	2	4	168	1	0	0	0	0	0	0	0	1	6842	912	32	2		2	GRIP1	12	66765507	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	2262759	66765507	67086388	64	11743											
C12orf43	64897	broad.mit.edu	37	chr12	121444130	121444130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtataaccactcaccatcatCctccaaagcgactttctgta	12	11	4	14	1	3	0	2	0	1	0	5	1	5	0	4	0	2	2	4	0	4	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr12:121444130C>T	uc009zxa.1	-	3	471	c.448G>A	c.(448-450)Gat>Aat	p.D150N	C12orf43_uc001tzh.1_Missense_Mutation_p.D119N|C12orf43_uc010szo.1_Missense_Mutation_p.D77N|C12orf43_uc010szp.1_Missense_Mutation_p.D119N|C12orf43_uc001tzi.1_Missense_Mutation_p.D119N	NM_022895	NP_075046	Q96C57	CL043_HUMAN	Homo sapiens chromosome 12 open reading frame 43 (C12orf43), mRNA.	119	Poly-Ser.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCACCATCATCCTCCAAAGCG	0.403													T	121444130	C	T	121444130	3	4	168	1	0	0	0	0	1	0	0	0	1702	855	30	2	445	2	C12orf43	12	121444130	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	54678623	121444130	12407765	65	11744											
RNF17	56163	broad.mit.edu	37	chr13	25419167	25419167	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagaaaacttgaagaaaaTctaaagacaatgggaagact	21	8	8	4	0	1	5	0	1	1	4	1	6	1	6	0	1	1	0	0	1	10	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr13:25419167T>A	uc001upr.3	+	21	3092	c.3051T>A	c.(3049-3051)aaT>aaA	p.N1017K	RNF17_uc010tdd.1_Missense_Mutation_p.N876K|RNF17_uc010tde.2_Missense_Mutation_p.N1017K|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.N956K|RNF17_uc010aac.3_Missense_Mutation_p.N215K|RNF17_uc010aad.3_Missense_Mutation_p.N69K	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	1017	Tudor 2.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTGAAGAAAATCTAAAGACAA	0.308													A	25419167	T	A	25419167	3	1	168	1	0	0	0	0	1	0	0	0	13552	1432	50	5	3137	5	RNF17	13	25419167	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08		25419167	89750711	66	11745											
TEP1	7011	broad.mit.edu	37	chr14	20873722	20873722	+	Missense_Mutation	SNP	C	C	G																															cttctgagaccagagtagagCacagcaagctcagtagagcc																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873722C>G	uc001vxe.3	-	3	798	c.758G>C	c.(757-759)tGc>tCc	p.C253S	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.C253S	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	253	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAGAGTAGAGCACAGCAAGCT	0.468													G	20873722	C	G	20873722	3	3	168	1	0	0	0	0	1	0	0	0	15859	710	25	4	7333	4	TEP1	14	20873722	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		20873722	86475818	67	11746	15	2									
TEP1	7011	broad.mit.edu	37	chr14	20873724	20873724	+	Silent	SNP	C	C	G																															tctgagaccagagtagagcaCagcaagctcagtagagccat																										TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:20873724C>G	uc001vxe.3	-	3	796	c.756G>C	c.(754-756)ctG>ctC	p.L252L	TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Silent_p.L252L	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	252	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GAGTAGAGCACAGCAAGCTCA	0.463													G	20873724	C	G	20873724	2	3	168	1	0	0	0	0	0	0	0	1	15859	465	17	4		4	TEP1	14	20873724	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	2	20873724	86475816	68	11747	15	2									
NOVA1	4857	broad.mit.edu	37	chr14	26941562	26941562	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcatgggatcagatggAgaggacttggtggtagttgg	8	11	19	3	0	2	2	2	0	0	2	2	5	2	4	0	7	0	2	0	7	1	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:26941562A>C	uc001wqa.3	-	4	903	c.117T>G	c.(115-117)tcT>tcG	p.S39S	NOVA1_uc001wpy.3_Silent_p.S161S|NOVA1_uc001wpz.3_Intron|NOVA1_uc001wqb.3_Silent_p.S161S	NM_002515	NP_002506	P51513	NOVA1_HUMAN	Homo sapiens neuro-oncological ventral antigen 1 (NOVA1), transcript variant 1, mRNA.	164					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		GATCAGATGGAGAGGACTTGG	0.428													C	26941562	A	C	26941562	2	2	168	1	0	0	0	0	0	0	0	1	10630	291	11	5		5	NOVA1	14	26941562	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	6067838	26941562	80407978	69	11748											
RTN1	6252	broad.mit.edu	37	chr14	60212931	60212931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtggactctgcaggagtCatctctattccagaatcaga	10	11	9	11	1	4	2	2	0	2	2	7	4	6	4	2	2	1	1	2	2	2	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60212931C>G	uc001xen.1	-	1	719	c.510G>C	c.(508-510)atG>atC	p.M170I		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	170					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		CTGCAGGAGTCATCTCTATTC	0.512													G	60212931	C	G	60212931	3	3	168	1	0	0	0	0	1	0	0	0	13816	826	29	4	1917	4	RTN1	14	60212931	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	33271369	60212931	47136609	70	11749											
RTN1	6252	broad.mit.edu	37	chr14	60213169	60213169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgttgttgagaaggtgTggtccatggcactggaaaca	10	12	14	5	0	0	2	0	2	0	1	1	4	1	3	1	4	1	3	1	4	2	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:60213169T>C	uc001xen.1	-	1	481	c.272A>G	c.(271-273)cAc>cGc	p.H91R		NM_021136	NP_066959	Q16799	RTN1_HUMAN	Homo sapiens reticulon 1 (RTN1), transcript variant 1, mRNA.	91					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TGAGAAGGTGTGGTCCATGGC	0.478													C	60213169	T	C	60213169	3	2	168	1	0	0	0	0	1	0	0	0	13816	1696	59	3	2155	3	RTN1	14	60213169	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	238	60213169	47136371	71	11750											
SYNE2	23224	broad.mit.edu	37	chr14	64430685	64430685	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacagaagttgctaaaggaTtcagagaatgatacctactt	15	11	8	7	0	1	3	1	1	0	2	1	5	1	4	1	1	4	2	1	1	7	7			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr14:64430685T>C	uc001xgl.3	+	9	1187	c.957T>C	c.(955-957)gaT>gaC	p.D319D	SYNE2_uc001xgm.3_Silent_p.D319D|SYNE2_uc021ruh.1_Silent_p.D319D	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	319					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGCTAAAGGATTCAGAGAATG	0.308													C	64430685	T	C	64430685	2	2	168	1	0	0	0	0	0	0	0	1	15543	1490	52	3		3	SYNE2	14	64430685	Silent	SNP	T	TCGA-19-5955-01A-11D-1696-08	4217516	64430685	42918855	72	11751											
NEDD4	4734	broad.mit.edu	37	chr15	56132880	56132880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtaagagaggtgatcttcGttacacaatccagagtttgg	13	11	11	6	1	1	3	0	1	1	2	3	4	2	3	1	2	1	3	1	2	4	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr15:56132880G>A	uc002adj.3	-	15	3441	c.3141C>T	c.(3139-3141)aaC>aaT	p.N1047N	NEDD4_uc002adl.3_Silent_p.N628N|NEDD4_uc002adi.3_Silent_p.N975N|NEDD4_uc010ugj.2_Silent_p.N1031N|NEDD4_uc010bfm.3_Silent_p.N1030N|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	1047	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTGATCTTCGTTACACAATC	0.338													A	56132880	G	A	56132880	2	1	168	1	0	0	0	0	0	0	0	1	10386	1136	40	1		1	NEDD4	15	56132880	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		56132880	46398512	73	11752											
HS3ST6	64711	broad.mit.edu	37	chr16	1962204	1962204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttcggggcatcagaCtcctgcgggacgggtgcaag	7	6	17	11	3	1	1	1	0	0	1	3	2	2	2	2	5	2	3	2	5	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr16:1962204C>A	uc002cnf.3	-	1	323	c.323G>T	c.(322-324)aGt>aTt	p.S108I	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	108										endometrium(2)|lung(2)	4						GGGCATCAGACTCCTGCGGGA	0.706													A	1962204	C	A	1962204	3	1	168	1	0	0	0	0	1	0	0	0	7424	565	20	4	616	4	HS3ST6	16	1962204	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		1962204	88392549	74	11753											
PHF12	57649	broad.mit.edu	37	chr17	27240276	27240276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatatgctgcactggagcGcaacaacactacagagccac	14	6	8	13	1	1	1	1	0	0	1	1	2	1	2	1	1	7	3	1	1	5	2	rs141809044		TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:27240276G>A	uc002hdg.1	-	8	1843	c.1313C>T	c.(1312-1314)gCg>gTg	p.A438V	PHF12_uc010wbb.1_Missense_Mutation_p.A420V|PHF12_uc002hdi.1_Missense_Mutation_p.A434V|PHF12_uc002hdj.1_Missense_Mutation_p.A438V|PHF12_uc010crw.1_Missense_Mutation_p.A141V|PHF12_uc002hdh.1_Missense_Mutation_p.A221V	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	438	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding	p.A438A(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GCACTGGAGCGCAACAACACT	0.532													A	27240276	G	A	27240276	3	1	168	1	0	0	0	0	1	0	0	0	11900	1087	38	1	1755	1	PHF12	17	27240276	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		27240276	53954934	75	11754											
ACACA	31	broad.mit.edu	37	chr17	35633950	35633950	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggcaatgccatttttcaAgagaagttccggtagtttgg	11	12	12	6	1	1	1	1	0	0	1	2	3	2	1	2	3	1	4	2	3	5	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:35633950A>G	uc002hnm.3	-	6	858	c.667T>C	c.(667-669)Ttg>Ctg	p.L223L	ACACA_uc002hnk.3_Silent_p.L145L|ACACA_uc002hnl.3_Silent_p.L165L|ACACA_uc002hnn.3_Silent_p.L223L|ACACA_uc002hno.3_Silent_p.L260L|ACACA_uc010cuz.3_Silent_p.L223L|ACACA_uc002hnq.2_Silent_p.L145L	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	223	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCATTTTTCAAGAGAAGTTCC	0.403													G	35633950	A	G	35633950	2	3	168	1	0	0	0	0	0	0	0	1	106	69	3	3		3	ACACA	17	35633950	Silent	SNP	A	TCGA-19-5955-01A-11D-1696-08	8393674	35633950	45561260	76	11755											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240673	39240673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccccacctgctgtgagaCgacctgctgccaccctaggt	6	8	10	17	2	0	1	0	1	0	1	1	3	0	1	6	1	3	2	6	1	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:39240673C>T	uc010wfn.2	+	0	215	c.215C>T	c.(214-216)aCg>aTg	p.T72M		NM_033061	NP_149050			Homo sapiens keratin associated protein 4-7 (KRTAP4-7), mRNA.											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCTGTGAGACGACctgctgc	0.652													T	39240673	C	T	39240673	3	4	168	1	0	0	0	0	1	0	0	0	8614	536	19	1	217	1	KRTAP4-7	17	39240673	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	3606723	39240673	41954537	77	11756											
COL1A1	1277	broad.mit.edu	37	chr17	48263379	48263379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccctggccgccatactcGaactgcaggggaggggagag	9	4	17	11	2	0	1	0	0	0	1	1	5	0	2	3	5	4	1	3	5	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48263379G>A	uc002iqm.3	-	49	4134	c.4008C>T	c.(4006-4008)ttC>ttT	p.F1336F	DD181999_uc021tzy.1_5'Flank	NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	1336	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGCCATACTCGAACTGCAGGG	0.637			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48263379	G	A	48263379	2	1	168	1	0	0	0	0	0	0	0	1	3708	1049	37	1		1	COL1A1	17	48263379	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	9022706	48263379	32931831	78	11757											
ABCC3	8714	broad.mit.edu	37	chr17	48757178	48757178	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacatttgctctgaactGgatgatacgaatgatgtcag	11	12	12	6	1	2	4	1	4	1	0	2	6	2	5	0	2	3	1	0	2	3	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:48757178G>A	uc002isl.3	+	25	3805	c.3725G>A	c.(3724-3726)tGg>tAg	p.W1242*	ABCC3_uc002isn.3_5'UTR	NM_003786	NP_003777	O15438	MRP3_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 3 (ABCC3), transcript variant 1, mRNA.	1242	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GCTCTGAACTGGATGATACGA	0.517													A	48757178	G	A	48757178	4	1	168	1	0	0	0	0	0	1	0	0	54	1357	47	2	3911	2	ABCC3	17	48757178	Nonsense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	493799	48757178	32438032	79	11758											
SOX9	6662	broad.mit.edu	37	chr17	70120351	70120351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccagaactccagctcctaCtacagccacgcggcaggcca	11	4	8	18	2	0	1	0	0	0	1	2	1	2	1	5	2	5	2	5	2	3	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:70120351C>T	uc002jiw.3	+	2	1725	c.1353C>T	c.(1351-1353)taC>taT	p.Y451Y		NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	451					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			CCAGCTCCTACTACAGCCACG	0.637													T	70120351	C	T	70120351	2	4	168	1	0	0	0	0	0	0	0	1	15052	576	20	2		2	SOX9	17	70120351	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	21363173	70120351	11074859	80	11759											
SEPT9	10801	broad.mit.edu	37	chr17	75398771	75398771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgtggctgaggctacacCccggagccaggagggtgagt	7	6	16	12	1	0	2	0	2	0	0	0	4	0	4	4	5	2	2	4	5	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:75398771C>T	uc002jts.4	+	2	833	c.707C>T	c.(706-708)cCc>cTc	p.P236L	SEPT9_uc010wtk.2_Missense_Mutation_p.P217L|SEPT9_uc002jtt.4_Missense_Mutation_p.P72L|SEPT9_uc002jtu.4_Missense_Mutation_p.P218L|SEPT9_uc002jtv.3_Missense_Mutation_p.P229L|SEPT9_uc002jtw.3_Missense_Mutation_p.P72L|SEPT9_uc002jtx.1_Missense_Mutation_p.P72L|SEPT9_uc010wtl.2_5'Flank	NM_001113491	NP_001106968	Q9UHD8	SEPT9_HUMAN	Homo sapiens septin 9 (SEPT9), transcript variant 1, mRNA.	236					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	p.A235V(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			GAGGCTACACCCCGGAGCCAG	0.627													T	75398771	C	T	75398771	3	4	168	1	0	0	0	0	1	0	0	0	14164	623	22	2	802	2	SEPT9	17	75398771	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	5278420	75398771	5796439	81	11760											
GAA	2548	broad.mit.edu	37	chr17	78083809	78083809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacgacgagggtctgcggagGggggttttcatcaccaacga	9	8	15	9	4	3	0	2	0	1	0	3	4	3	1	1	5	3	1	1	5	2	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr17:78083809G>A	uc002jxp.3	+	8	1759	c.1392G>A	c.(1390-1392)agG>agA	p.R464R	GAA_uc002jxo.3_Silent_p.R464R|GAA_uc002jxq.3_Silent_p.R464R	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	464					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GTCTGCGGAGGGGGGTTTTCA	0.657													A	78083809	G	A	78083809	2	1	168	1	0	0	0	0	0	0	0	1	6199	1223	43	2		2	GAA	17	78083809	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	2685038	78083809	3111401	82	11761											
SMCHD1	23347	broad.mit.edu	37	chr18	2700844	2700844	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccaggtcagcacaaataaAttgacgtttatggatcttga	13	13	8	7	1	2	2	1	2	1	0	3	3	3	3	1	2	1	2	1	2	4	6			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:2700844A>C	uc002klm.4	+	11	1764	c.1575A>C	c.(1573-1575)aaA>aaC	p.K525N	SMCHD1_uc002klk.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	525					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GCACAAATAAATTGACGTTTA	0.338													C	2700844	A	C	2700844	3	2	168	1	0	0	0	0	1	0	0	0	14882	98	4	5	1621	5	SMCHD1	18	2700844	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08		2700844	75376404	83	11762											
CIDEA	1149	broad.mit.edu	37	chr18	12274238	12274238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtactccgtgtcctaCgacatccggtgcacgggact	8	9	12	12	4	0	1	0	0	0	1	3	4	3	2	3	2	3	2	3	2	2	2	rs143526030	byFrequency	TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr18:12274238C>T	uc002kqt.4	+	3	542	c.477C>T	c.(475-477)taC>taT	p.Y159Y	CIDEA_uc002kqu.4_Silent_p.Y193Y|CIDEA_uc010dlc.3_Non-coding_Transcript	NM_001279	NP_001270	O60543	CIDEA_HUMAN	Homo sapiens cell death-inducing DFFA-like effector a (CIDEA), transcript variant 1, mRNA.	159					DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change|lipid metabolic process|lipid storage|negative regulation of apoptosis|negative regulation of cytokine secretion|negative regulation of lipid catabolic process|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of sequestering of triglyceride|temperature homeostasis	mitochondrial envelope|nucleus	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)	13						CCGTGTCCTACGACATCCGGT	0.587													T	12274238	C	T	12274238	2	4	168	1	0	0	0	0	0	0	0	1	3455	547	19	1		1	CIDEA	18	12274238	Silent	SNP	C	TCGA-19-5955-01A-11D-1696-08	9573394	12274238	65803010	84	11763											
TICAM1	148022	broad.mit.edu	37	chr19	4817811	4817811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctgccagtggatcgcagGgagcacccttggctccagtc	6	7	15	13	1	0	0	0	0	0	0	3	2	1	2	3	4	2	4	3	4	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:4817811G>A	uc002mbi.3	-	1	830	c.579C>T	c.(577-579)tcC>tcT	p.S193S	TICAM1_uc021unj.1_Silent_p.S193S	NM_182919	NP_891549	Q8IUC6	TCAM1_HUMAN	Homo sapiens toll-like receptor adaptor molecule 1 (TICAM1), mRNA.	193					apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		TGGATCGCAGGGAGCACCCTT	0.652													A	4817811	G	A	4817811	2	1	168	1	0	0	0	0	0	0	0	1	15992	1219	43	2		2	TICAM1	19	4817811	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		4817811	54311172	85	11764											
MUC16	94025	broad.mit.edu	37	chr19	9058146	9058146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatccaacacttctgtagtcTtcaccaggcctgggaggata	10	11	9	11	0	3	0	1	0	2	0	4	2	4	2	3	3	1	1	3	3	4	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9058146T>C	uc002mkp.3	-	2	29504	c.29300A>G	c.(29299-29301)aAg>aGg	p.K9767R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9769	Ser-rich.|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						TTCTGTAGTCTTCACCAGGCC	0.493													C	9058146	T	C	9058146	3	2	168	1	0	0	0	0	1	0	0	0	10049	1609	56	3	14551	3	MUC16	19	9058146	Missense_Mutation	SNP	T	TCGA-19-5955-01A-11D-1696-08	4240335	9058146	50070837	86	11765											
MUC16	94025	broad.mit.edu	37	chr19	9084687	9084687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagttgaagaagctatggaGgtgttgatcagatcagaaga	15	10	13	3	0	2	6	2	2	0	4	2	7	2	7	0	2	1	3	0	2	5	4			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:9084687G>A	uc002mkp.3	-	0	7332	c.7128C>T	c.(7126-7128)acC>acT	p.T2376T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2376	Ser-rich.|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						AAGCTATGGAGGTGTTGATCA	0.438													A	9084687	G	A	9084687	2	1	168	1	0	0	0	0	0	0	0	1	10049	987	35	2		2	MUC16	19	9084687	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	26541	9084687	50044296	87	11766											
IL28B	282617	broad.mit.edu	37	chr19	39734655	39734655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacgactcacacaggccCggagctgggagaggatatgg	10	5	15	11	2	1	2	1	1	0	1	1	6	1	4	2	5	1	1	2	5	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:39734655C>T	uc010xut.2	-	2	403	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	IL28B_uc010xuu.2_Missense_Mutation_p.R134Q	NM_172139	NP_742151	Q8IZI9	IL28B_HUMAN	Homo sapiens interleukin 28B (interferon, lambda 3) (IL28B), mRNA.	134					response to virus	extracellular space	cytokine activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(60;2.81e-07)|all_lung(34;7.81e-08)|Lung NSC(34;9.29e-08)|all_epithelial(25;3.9e-07)|Ovarian(47;0.0315)		Epithelial(26;1.55e-27)|all cancers(26;1.41e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACACAGGCCCGGAGCTGGGA	0.667													T	39734655	C	T	39734655	3	4	168	1	0	0	0	0	1	0	0	0	7741	652	23	1	200	1	IL28B	19	39734655	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	30649968	39734655	19394328	88	11767											
KLC3	147700	broad.mit.edu	37	chr19	45853908	45853908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctccccaggcccttcgcCgcagcagctcactctccaag	6	6	7	22	2	2	0	1	0	1	0	5	0	3	0	7	1	2	3	7	1	1	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:45853908C>T	uc002pbg.1	+	9	1424	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C	KLC3_uc002pbf.1_Missense_Mutation_p.R428C|KLC3_uc010ejy.1_Missense_Mutation_p.R427C	NM_177417	NP_803136	Q6P597	KLC3_HUMAN	Homo sapiens kinesin light chain 3 (KLC3), mRNA.	428						cytoplasm|kinesin complex|microtubule	microtubule motor activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		GGCCCTTCGCCGCAGCAGCTC	0.692													T	45853908	C	T	45853908	3	4	168	1	0	0	0	0	1	0	0	0	8393	652	23	1	1320	1	KLC3	19	45853908	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	6119253	45853908	13275075	89	11768											
TMEM143	55260	broad.mit.edu	37	chr19	48845929	48845929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaggttgagcagggcgCgctgcagggtgggcgtgcgc	5	6	21	9	4	0	2	0	2	0	0	0	2	0	2	0	4	3	5	0	4	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:48845929C>T	uc002pix.1	-	5	842	c.833G>A	c.(832-834)cGc>cAc	p.R278H	TMEM143_uc002piw.1_Intron|TMEM143_uc010xzn.1_Missense_Mutation_p.R213H|TMEM143_uc010elw.1_Missense_Mutation_p.R178H|TMEM143_uc010xzo.1_Missense_Mutation_p.R68H|TMEM143_uc002piy.1_Missense_Mutation_p.R243H|Mir_324_uc021uws.1_5'Flank	NM_018273	NP_060743	Q96AN5	TM143_HUMAN	Homo sapiens transmembrane protein 143 (TMEM143), mRNA.	278						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GAGCAGGGCGCGCTGCAGGGT	0.637													T	48845929	C	T	48845929	3	4	168	1	0	0	0	0	1	0	0	0	16157	768	27	1	558	1	TMEM143	19	48845929	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	2992021	48845929	10283054	90	11769											
TMEM150B	284417	broad.mit.edu	37	chr19	55828201	55828201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcagaggcccaggcggaggGgcccaatccaggcagccccg	8	2	16	15	2	0	1	0	0	0	1	1	2	1	2	5	6	2	2	5	6	1	0			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr19:55828201G>A	uc010esw.1	-	6	631	c.458C>T	c.(457-459)cCc>cTc	p.P153L	TMEM150B_uc010yfu.1_Missense_Mutation_p.P153L|TMEM150B_uc010yfv.1_Non-coding_Transcript|TMEM150B_uc010yfw.1_Non-coding_Transcript	NM_001085488	NP_001078957	A6NC51	T150B_HUMAN	Homo sapiens transmembrane protein 150B (TMEM150B), mRNA.	153						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						CAGGCGGAGGGGCCCAATCCA	0.617													A	55828201	G	A	55828201	3	1	168	1	0	0	0	0	1	0	0	0	16168	1232	43	2	251	2	TMEM150B	19	55828201	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08	6982272	55828201	3300782	91	11770											
SIRPD	128646	broad.mit.edu	37	chr20	1517818	1517818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgagtcccagcagcCggaggcagcagcagggttgg	8	5	16	12	1	0	1	0	1	0	0	1	2	1	2	3	4	4	5	3	4	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:1517818C>T	uc002wfi.3	-	2	604	c.560G>A	c.(559-561)cGg>cAg	p.R187Q		NM_178460	NP_848555	Q9H106	SIRPD_HUMAN	Homo sapiens signal-regulatory protein delta (SIRPD), mRNA.	187						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						TCCCAGCAGCCGGAGGCAGCA	0.612													T	1517818	C	T	1517818	3	4	168	1	0	0	0	0	1	0	0	0	14429	652	23	1	41	1	SIRPD	20	1517818	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08		1517818	61507702	92	11771											
C20orf132	140699	broad.mit.edu	37	chr20	35776290	35776290	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagagccactaggtgtccaAgtctttggaatcgcagtgga	10	10	12	9	1	2	1	1	0	1	1	4	3	3	3	2	3	1	1	2	3	3	2			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr20:35776290A>C	uc010zvu.2	-	10	1188	c.1097T>G	c.(1096-1098)cTt>cGt	p.L366R	C20orf132_uc002xgk.3_Missense_Mutation_p.L49R|C20orf132_uc002xgm.2_Missense_Mutation_p.L366R|C20orf132_uc002xgn.2_Missense_Mutation_p.L331R	NM_152503	NP_689716	Q9H579	CT132_HUMAN	Homo sapiens chromosome 20 open reading frame 132 (C20orf132), transcript variant 1, mRNA.	251								p.R366R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(115;0.00878)				TAGGTGTCCAAGTCTTTGGAA	0.478													C	35776290	A	C	35776290	3	2	168	1	0	0	0	0	1	0	0	0	2107	72	3	5	2103	5	C20orf132	20	35776290	Missense_Mutation	SNP	A	TCGA-19-5955-01A-11D-1696-08	34258472	35776290	27249230	93	11772											
PLXNB2	23654	broad.mit.edu	37	chr22	50717405	50717405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccttcaccgggatggcGtccactccctcgtcctgcac	6	8	10	17	3	1	0	1	0	0	0	5	2	4	2	5	3	1	1	5	3	0	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chr22:50717405G>A	uc003bkv.4	-	27	4518	c.4425C>T	c.(4423-4425)gaC>gaT	p.D1475D	PLXNB2_uc003bkt.1_Silent_p.D267D|PLXNB2_uc003bku.1_Silent_p.D460D	NM_012401	NP_036533	O15031	PLXB2_HUMAN	Homo sapiens plexin B2 (PLXNB2), mRNA.	1475					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CCGGGATGGCGTCCACTCCCT	0.622													A	50717405	G	A	50717405	2	1	168	1	0	0	0	0	0	0	0	1	12201	1136	40	1		1	PLXNB2	22	50717405	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08		50717405	587161	94	11773											
PIM2	11040	broad.mit.edu	37	chrX	48771532	48771532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgagggtcgggaagaaGgtttgggggccaggcaccgg	8	5	20	8	2	0	2	0	1	0	1	1	3	0	3	3	7	0	2	3	7	2	1			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:48771532G>A	uc004dls.3	-	5	1114	c.812C>T	c.(811-813)cCt>cTt	p.P271L	SLC35A2_uc004dlo.1_5'Flank|SLC35A2_uc011mml.1_5'Flank|SLC35A2_uc004dlp.1_5'Flank|SLC35A2_uc011mmm.1_5'Flank|SLC35A2_uc011mmn.1_5'Flank|SLC35A2_uc004dlq.3_5'Flank|SLC35A2_uc011mmo.1_5'Flank	NM_006875	NP_006866	Q9P1W9	PIM2_HUMAN	Homo sapiens pim-2 oncogene (PIM2), mRNA.	271	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						TCGGGAAGAAGGTTTGGGGGC	0.602													A	48771532	G	A	48771532	3	1	168	1	0	0	0	0	1	0	0	0	12005	1000	35	2	127	2	PIM2	23	48771532	Missense_Mutation	SNP	G	TCGA-19-5955-01A-11D-1696-08		48771532	106499028	95	11774											
ATP7A	538	broad.mit.edu	37	chrX	77243835	77243835	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgacatgggctttgatgCtgttatccataatcctgacc	9	14	9	9	0	0	4	0	4	0	0	2	4	2	4	3	1	1	3	3	1	2	3			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:77243835C>A	uc004ecx.4	+	2	378	c.218C>A	c.(217-219)gCt>gAt	p.A73D	ATP7A_uc004ecw.2_Missense_Mutation_p.A73D	NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	73	HMA 1.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						GGCTTTGATGCTGTTATCCAT	0.423													A	77243835	C	A	77243835	3	1	168	1	0	0	0	0	1	0	0	0	1195	797	28	4	224	4	ATP7A	23	77243835	Missense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	28472303	77243835	78026725	96	11775											
STAG2	10735	broad.mit.edu	37	chrX	123220476	123220476	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccactgatgtcttacCgaaattctttgctagctggt	7	15	9	10	1	2	1	0	1	2	0	3	2	3	1	2	2	3	3	2	2	3	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:123220476C>T	uc004eua.3	+	29	3537	c.3133C>T	c.(3133-3135)Cga>Tga	p.R1045*	STAG2_uc004etz.4_Nonsense_Mutation_p.R1045*|STAG2_uc004eub.3_Nonsense_Mutation_p.R1045*|STAG2_uc004euc.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eud.3_Nonsense_Mutation_p.R1045*|STAG2_uc004eue.3_Nonsense_Mutation_p.R1045*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	1045					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R1045*(2)		breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GATGTCTTACCGAAATTCTTT	0.433													T	123220476	C	T	123220476	4	4	168	1	0	0	0	0	0	1	0	0	15339	644	23	1	3243	1	STAG2	23	123220476	Nonsense_Mutation	SNP	C	TCGA-19-5955-01A-11D-1696-08	45976641	123220476	32050084	97	11776											
L1CAM	3897	broad.mit.edu	37	chrX	153129351	153129351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctacctgagtatttgccGcccttgctgcgcttgatgaa	7	12	11	11	2	0	3	0	3	0	0	0	3	0	3	3	1	4	4	3	1	3	5			TCGA-19-5955-01A-11D-1696-08	TCGA-19-5955-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8abde95-f4d7-4d48-879b-bd584eaf8a25	cef2a217-c85e-4fb2-a319-d7a9a02417d4	g.chrX:153129351G>A	uc004fjb.3	-	24	3552	c.3444C>T	c.(3442-3444)ggC>ggT	p.G1148G	L1CAM_uc004fjc.3_Silent_p.G1148G|L1CAM_uc010nuo.3_Silent_p.G1143G	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1148					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTATTTGCCGCCCTTGCTGC	0.627													A	153129351	G	A	153129351	2	1	168	1	0	0	0	0	0	0	0	1	8647	1074	38	1		1	L1CAM	23	153129351	Silent	SNP	G	TCGA-19-5955-01A-11D-1696-08	29908875	153129351	2141209	98	11777											
ZNF642	339559	broad.mit.edu	37	chr1	40960711	40960711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgatataatttattccacGttgagaaaagtctccacata	15	13	6	7	1	1	2	0	2	1	1	3	4	2	2	2	0	0	1	2	0	6	7			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr1:40960711G>A	uc010ojk.2	+	5	858	c.564G>A	c.(562-564)acG>acA	p.T188T	ZNF642_uc001cfo.3_Silent_p.T187T|ZNF642_uc009vwb.3_Silent_p.T187T	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			TTTATTCCACGTTGAGAAAAG	0.398													A	40960711	G	A	40960711	2	1	169	1	0	0	0	0	0	0	0	1	18159	1132	40	1		1	ZNF642	1	40960711	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		40960711	208289910	1	11778											
LRPPRC	10128	broad.mit.edu	37	chr2	44152273	44152273	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcttctgtgtcagctcCactaatttttccagagtttc	9	16	6	10	0	2	1	1	0	1	1	5	1	4	1	2	0	2	3	2	0	3	6			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:44152273C>A	uc002rtr.2	-	26	2887	c.2829G>T	c.(2827-2829)gtG>gtT	p.V943V	LRPPRC_uc010yob.1_Silent_p.V843V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	943					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTGTCAGCTCCACTAATTTTT	0.323													A	44152273	C	A	44152273	2	1	169	1	0	0	0	0	0	0	0	1	9035	581	21	4		4	LRPPRC	2	44152273	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08		44152273	199047100	2	11779											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315641	73315641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccgggaagagacagcttGcaaggagccagaggatggaa	15	3	16	7	1	0	2	0	0	0	2	0	8	0	6	2	4	4	2	2	4	4	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:73315641G>C	uc002siu.4	-	2	1346	c.1105C>G	c.(1105-1107)Caa>Gaa	p.Q369E	RAB11FIP5_uc002sit.4_Missense_Mutation_p.Q291E	NM_015470	NP_056285	Q9BXF6	RFIP5_HUMAN	Homo sapiens RAB11 family interacting protein 5 (class I) (RAB11FIP5), mRNA.	369					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						GAGACAGCTTGCAAGGAGCCA	0.617													C	73315641	G	C	73315641	3	2	169	1	0	0	0	0	1	0	0	0	12985	1328	46	4	868	4	RAB11FIP5	2	73315641	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	29163368	73315641	169883732	3	11780											
DNAH6	1768	broad.mit.edu	37	chr2	84777113	84777113	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcactgacaagctaaaaCgaacaccttcagcagatgtc	15	8	6	12	1	2	2	2	1	1	1	4	3	2	2	1	0	4	2	1	0	4	2	rs143013494		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:84777113C>T	uc010fgb.3	+	8	1554	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*	DNAH6_uc002soo.3_Nonsense_Mutation_p.R52*|DNAH6_uc002sop.3_Nonsense_Mutation_p.R52*	NM_001370	NP_001361	Q9C0G6	DYH6_HUMAN	Homo sapiens dynein, axonemal, heavy chain 6 (DNAH6), mRNA.	473	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						CAAGCTAAAACGAACACCTTC	0.348													T	84777113	C	T	84777113	4	4	169	1	0	0	0	0	0	1	0	0	4644	528	19	1	1447	1	DNAH6	2	84777113	Nonsense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	11461472	84777113	158422260	4	11781											
YSK4	80122	broad.mit.edu	37	chr2	135738725	135738725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctttattattccagttgGcatgagcataacattatttc	11	16	6	8	0	0	1	0	1	0	0	2	1	1	1	1	1	3	4	1	1	4	8			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:135738725G>A	uc002tue.1	-	8	3617	c.3586C>T	c.(3586-3588)Cca>Tca	p.P1196S	YSK4_uc002tuf.1_Missense_Mutation_p.P378S|YSK4_uc010fnc.1_Missense_Mutation_p.P330S|YSK4_uc010fnd.1_Missense_Mutation_p.P1083S|YSK4_uc010zbg.1_Missense_Mutation_p.P328S|YSK4_uc021vpz.1_Missense_Mutation_p.P57S|YSK4_uc002tuh.4_Missense_Mutation_p.P924S|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1196	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTCCAGTTGGCATGAGCATA	0.428													A	135738725	G	A	135738725	3	1	169	1	0	0	0	0	1	0	0	0	17597	1203	42	2	408	2	YSK4	2	135738725	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	50961612	135738725	107460648	5	11782											
TTN	7273	broad.mit.edu	37	chr2	179605482	179605482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataccttctttggagaaggTtttctgggactgtacaatct	10	15	9	7	0	3	1	0	0	3	1	3	3	3	2	1	3	2	2	1	3	5	6			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr2:179605482T>A	uc021vsy.1	-						TTN_uc021vsz.1_Missense_Mutation_p.T3989S|TTN_uc021vta.1_Missense_Mutation_p.T3922S|TTN_uc021vtb.1_Missense_Mutation_p.T3797S|TTN_uc002umz.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGAGAAGGTTTTCTGGGAC	0.453													A	179605482	T	A	179605482	3	1	169	1	0	0	0	0	1	0	0	0	16837	1725	60	5	92311	5	TTN	2	179605482	Missense_Mutation	SNP	T	TCGA-19-5958-01A-11D-1696-08	43866757	179605482	63593891	6	11783											
CACNA1D	776	broad.mit.edu	37	chr3	53757913	53757913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttttctcttcattatcAtcttttccttgcttgggatg	4	22	6	9	0	4	0	2	0	2	0	6	1	5	1	1	1	2	2	1	1	1	8			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr3:53757913A>G	uc003dgv.4	+	13	2150	c.1987A>G	c.(1987-1989)Atc>Gtc	p.I663V	CACNA1D_uc003dgu.4_Missense_Mutation_p.I683V|CACNA1D_uc003dgy.4_Missense_Mutation_p.I663V|CACNA1D_uc003dgw.4_Missense_Mutation_p.I330V	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	663					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTTCATTATCATCTTTTCCTT	0.438													G	53757913	A	G	53757913	3	3	169	1	0	0	0	0	1	0	0	0	2567	217	8	3	2213	3	CACNA1D	3	53757913	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08		53757913	144264517	7	11784											
CNOT6L	246175	broad.mit.edu	37	chr4	78650009	78650009	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatattataaataccTgaatctggcaatgagttaag	17	12	8	4	0	1	3	0	3	1	0	1	4	1	3	1	1	1	2	1	1	9	5			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:78650009T>C	uc011ccd.2	-	10	1383	c.1252_splice	c.e10+1	p.G418_splice	CNOT6L_uc003hks.3_Splice_Site_p.G418_splice|CNOT6L_uc003hkt.1_Splice_Site_p.G261_splice	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	418					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TATAAATACCTGAATCTGGCA	0.403													C	78650009	T	C	78650009	2	2	169	1	0	0	0	0	0	0	0	1	3654	1594	55	3		3	CNOT6L	4	78650009	Silent	SNP	T	TCGA-19-5958-01A-11D-1696-08		78650009	112504267	8	11785											
FRAS1	80144	broad.mit.edu	37	chr4	79236756	79236756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccttagcttgtgacCaatcctgtgacagttgtggc	6	12	10	13	0	0	2	0	2	0	0	2	2	2	2	5	1	1	2	5	1	2	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr4:79236756C>A	uc003hlb.2	+	15	2127	c.1687C>A	c.(1687-1689)Caa>Aaa	p.Q563K	FRAS1_uc003hkw.3_Missense_Mutation_p.Q563K|FRAS1_uc003hky.1_Missense_Mutation_p.Q267K|FRAS1_uc003hkz.3_Missense_Mutation_p.Q267K|FRAS1_uc003hla.1_Missense_Mutation_p.Q74K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	563					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCTTGTGACCAATCCTGTGA	0.478													A	79236756	C	A	79236756	3	1	169	1	0	0	0	0	1	0	0	0	6093	595	21	4	1749	4	FRAS1	4	79236756	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	586747	79236756	111917520	9	11786											
HCN1	348980	broad.mit.edu	37	chr5	45303842	45303842	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggttgaaacacctcaaAtctcaacttgctcagcatgg	12	10	7	12	0	3	1	3	1	1	0	5	1	4	1	2	2	4	3	2	2	3	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:45303842A>T	uc003jok.3	-	5	1502	c.1477T>A	c.(1477-1479)Ttt>Att	p.F493I		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	493						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R492K(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AACACCTCAAATCTCAACTTG	0.413													T	45303842	A	T	45303842	3	4	169	1	0	0	0	0	1	0	0	0	7051	101	4	5	1207	5	HCN1	5	45303842	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08		45303842	135611418	10	11787											
PLK2	10769	broad.mit.edu	37	chr5	57754862	57754862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtgaggaataatttttgCggcgtagactttgttatttg	8	17	12	4	2	0	2	0	1	0	1	0	3	0	3	0	2	1	3	0	2	4	7			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:57754862C>T	uc003jrn.3	-	1	508	c.328G>A	c.(328-330)Gca>Aca	p.A110T	PLK2_uc021xyx.1_Missense_Mutation_p.A96T|PLK2_uc011cql.1_Missense_Mutation_p.A12T	NM_006622	NP_006613	Q9NYY3	PLK2_HUMAN	Homo sapiens polo-like kinase 2 (PLK2), transcript variant 1, mRNA.	110	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity	p.A110T(2)		endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATAATTTTTGCGGCGTAGACT	0.423													T	57754862	C	T	57754862	3	4	169	1	0	0	0	0	1	0	0	0	12173	768	27	1	1781	1	PLK2	5	57754862	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	12451020	57754862	123160398	11	11788											
PIK3R1	5295	broad.mit.edu	37	chr5	67589149	67589149	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaaagggggaaataacaaAttaatcaaaatatttcatcg	20	9	8	4	1	2	0	2	0	0	0	3	2	2	2	0	3	1	0	0	3	8	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:67589149A>T	uc003jva.3	+	9	1717	c.1137A>T	c.(1135-1137)aaA>aaT	p.K379N	PIK3R1_uc003jvc.3_Missense_Mutation_p.K79N|PIK3R1_uc003jvd.3_Missense_Mutation_p.K109N|PIK3R1_uc003jve.3_Missense_Mutation_p.K58N|PIK3R1_uc021xzn.1_Missense_Mutation_p.K16N|PIK3R1_uc011crb.2_Missense_Mutation_p.K49N	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAAATAACAAATTAATCAAAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67589149	A	T	67589149	3	4	169	1	0	0	0	0	1	0	0	0	11995	98	4	5	1301	5	PIK3R1	5	67589149	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08	9834287	67589149	113326111	12	11789											
TGFBI	7045	broad.mit.edu	37	chr5	135385160	135385160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcagggctcaacacgatGcttgaaggtaacggccagta	12	7	12	10	2	2	1	2	1	0	0	2	2	2	1	1	3	3	5	1	3	4	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:135385160G>T	uc003lbf.4	+	6	965	c.804G>T	c.(802-804)atG>atT	p.M268I	TGFBI_uc003lbg.4_Missense_Mutation_p.M1I|TGFBI_uc003lbh.4_Missense_Mutation_p.M94I|TGFBI_uc011cyb.2_Missense_Mutation_p.M94I	NM_000358	NP_000349	Q15582	BGH3_HUMAN	Homo sapiens transforming growth factor, beta-induced, 68kDa (TGFBI), mRNA.	268	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCAACACGATGCTTGAAGGTA	0.567													T	135385160	G	T	135385160	3	4	169	1	0	0	0	0	1	0	0	0	15920	1319	46	4	830	4	TGFBI	5	135385160	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	67796011	135385160	45530100	13	11790											
NDST1	3340	broad.mit.edu	37	chr5	149925000	149925000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcttgcccaaagccaaggtCctgaccatcctcatcaaccc	10	8	5	18	0	3	1	2	1	1	0	5	1	5	1	6	1	3	0	6	1	3	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:149925000C>T	uc003lsk.4	+	10	2599	c.2097C>T	c.(2095-2097)gtC>gtT	p.V699V	NDST1_uc011dcj.2_Silent_p.V699V	NM_001543	NP_001534	P52848	NDST1_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1 (NDST1), mRNA.	699	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGCCAAGGTCCTGACCATCC	0.612													T	149925000	C	T	149925000	2	4	169	1	0	0	0	0	0	0	0	1	10331	842	30	2		2	NDST1	5	149925000	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08	14539840	149925000	30990260	14	11791											
ANXA6	309	broad.mit.edu	37	chr5	150512089	150512089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagctcccctcggatgctGgcttcaatcggcttccctgt	5	11	10	15	2	1	0	1	0	0	0	5	2	3	1	3	3	2	4	3	3	1	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:150512089G>A	uc003ltl.2	-	9	912	c.684C>T	c.(682-684)gcC>gcT	p.A228A	ANXA6_uc011dcp.2_Silent_p.A196A|ANXA6_uc003lto.2_Intron	NM_001155	NP_001180473	P08133	ANXA6_HUMAN	Homo sapiens annexin A6 (ANXA6), transcript variant 1, mRNA.	228						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCGGATGCTGGCTTCAATCG	0.542													A	150512089	G	A	150512089	2	1	169	1	0	0	0	0	0	0	0	1	722	1335	47	2		2	ANXA6	5	150512089	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	587089	150512089	30403171	15	11792											
DOCK2	1794	broad.mit.edu	37	chr5	169098173	169098174	+	Frame_Shift_Del	DEL	TA	TA	-																															gaagcatctggaaacaactcTatgtggtgagactcagaact																										TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr5:169098173_169098174delTA	uc003maf.3	+	4	396_397	c.316_317delTA	c.(316-318)tatfs	p.Y106fs	DOCK2_uc011der.2_Non-coding_Transcript	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	106					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GAAACAACTCTATGTGGTGAGA	0.441													-	169098174	TA	-	169098173	7	5	169	1	0	1	0	1	0	0	0	0	4726	1522	53	0	334	0	DOCK2	5	169098173	Frame_Shift_Del	DEL	TA	TCGA-19-5958-01A-11D-1696-08	18586084	169098173	11817087	16	11793											
PRSS16	10279	broad.mit.edu	37	chr6	27222902	27222902	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcccccagcctccgcctaGggcgccaggtaagagaaaaa	12	4	10	15	2	0	1	0	0	0	1	2	2	2	1	6	2	1	1	6	2	4	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:27222902G>T	uc003nja.3	+	10	1483	c.1468G>T	c.(1468-1470)Ggg>Tgg	p.G490W	PRSS16_uc011dkt.2_Non-coding_Transcript|PRSS16_uc003njb.3_Missense_Mutation_p.G233W|PRSS16_uc003njd.3_Non-coding_Transcript	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	490					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CCTCCGCCTAGGGCGCCAGGT	0.507													T	27222902	G	T	27222902	3	4	169	1	0	0	0	0	1	0	0	0	12701	1000	35	4	1510	4	PRSS16	6	27222902	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		27222902	143892165	17	11794											
MSH5	4439	broad.mit.edu	37	chr6	31721395	31721395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaggtcagcgactggcagGttctctacaaggtaaggcct	10	8	12	11	1	2	0	1	0	1	0	3	1	2	0	2	5	2	3	2	5	4	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:31721395G>T	uc003nwu.2	+	11	1131	c.1003G>T	c.(1003-1005)Gtt>Ttt	p.V335F	MSH5_uc003nwx.2_Missense_Mutation_p.V352F|MSH5_uc003nwv.2_Missense_Mutation_p.V335F|MSH5_uc003nww.2_Missense_Mutation_p.V335F|MSH5_uc011dof.1_Missense_Mutation_p.V34F|MSH5_uc003nwy.1_5'Flank	NM_172165	NP_751897	O43196	MSH5_HUMAN	Homo sapiens mutS homolog 5 (E. coli) (MSH5), transcript variant 2, mRNA.	335					chiasma assembly|homologous chromosome segregation|meiotic prophase II|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|ovary(2)|skin(2)	5						CGACTGGCAGGTTCTCTACAA	0.493								Direct reversal of damage;Mismatch excision repair (MMR)					T	31721395	G	T	31721395	3	4	169	1	0	0	0	0	1	0	0	0	9949	1261	44	4	1096	4	MSH5	6	31721395	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	4498493	31721395	139393672	18	11795											
ANKRD6	22881	broad.mit.edu	37	chr6	90333750	90333750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagctctacacattgtacCggggcaaggatgggaaagtg	12	8	13	8	1	2	0	1	0	1	0	2	2	2	2	1	4	3	3	1	4	4	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:90333750C>T	uc003pni.4	+	11	1533	c.1192C>T	c.(1192-1194)Cgg>Tgg	p.R398W	ANKRD6_uc003pne.4_Missense_Mutation_p.R398W|ANKRD6_uc003pnf.4_Missense_Mutation_p.R363W|ANKRD6_uc011dzy.2_Missense_Mutation_p.R398W|ANKRD6_uc010kcd.3_Missense_Mutation_p.R339W|LYRM2_uc010kce.2_Intron|LYRM2_uc003png.3_Intron|LYRM2_uc010kcf.1_Intron|ANKRD6_uc003pnj.4_5'UTR	NM_001242809	NP_001229738	Q9Y2G4	ANKR6_HUMAN	Homo sapiens ankyrin repeat domain 6 (ANKRD6), transcript variant 1, mRNA.	398							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		CACATTGTACCGGGGCAAGGA	0.522													T	90333750	C	T	90333750	3	4	169	1	0	0	0	0	1	0	0	0	685	643	23	1	1234	1	ANKRD6	6	90333750	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	58612355	90333750	80781317	19	11796											
SLC22A3	6581	broad.mit.edu	37	chr6	160819102	160819102	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagcattcaccttaggctAtgcagcagacaggtaggtac	11	9	12	9	0	1	1	1	0	0	1	1	2	1	2	1	4	4	6	1	4	4	5			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr6:160819102A>G	uc003qti.3	+	1	548	c.521A>G	c.(520-522)tAt>tGt	p.Y174C	SLC22A3_uc011efx.2_Non-coding_Transcript	NM_021977	NP_068812	O75751	S22A3_HUMAN	Homo sapiens solute carrier family 22 (extraneuronal monoamine transporter), member 3 (SLC22A3), mRNA.	174						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		ACCTTAGGCTATGCAGCAGAC	0.433													G	160819102	A	G	160819102	3	3	169	1	0	0	0	0	1	0	0	0	14549	449	16	3	527	3	SLC22A3	6	160819102	Missense_Mutation	SNP	A	TCGA-19-5958-01A-11D-1696-08	70485352	160819102	10295965	20	11797											
ABCB1	5243	broad.mit.edu	37	chr7	87135283	87135283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgaggctgtctaacaaggGcacgagctatggcaatgcgt	11	9	13	8	2	1	1	0	1	1	0	1	2	1	1	0	3	3	4	0	3	5	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:87135283G>A	uc003uiz.2	-	27	4059	c.3566C>T	c.(3565-3567)gCc>gTc	p.A1189V	ABCB1_uc011khc.2_Missense_Mutation_p.A1125V	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	1189	ABC transporter 2.				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)	TCTAACAAGGGCACGAGCTAT	0.403													A	87135283	G	A	87135283	3	1	169	1	0	0	0	0	1	0	0	0	40	1203	42	2	284	2	ABCB1	7	87135283	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		87135283	72003380	21	11798											
MLL3	58508	broad.mit.edu	37	chr7	151970848	151970848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagatgtgactgaaatcCtgaaaggtgccggctcctgc	11	8	13	9	1	0	4	0	3	0	1	2	5	2	5	3	3	2	1	3	3	3	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr7:151970848C>A	uc003wla.3	-	6	1173	c.954G>T	c.(952-954)caG>caT	p.Q318H		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	318					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GACTGAAATCCTGAAAGGTGC	0.423			N		medulloblastoma								A	151970848	C	A	151970848	3	1	169	1	0	0	0	0	1	0	0	0	9697	680	24	4	13993	4	MLL3	7	151970848	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	64835565	151970848	7167815	22	11799											
SAMD12	401474	broad.mit.edu	37	chr8	119593041	119593041	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatttttaatggattgAgattccacaccttcaccttc	9	19	4	9	0	1	1	1	1	0	1	3	3	2	2	3	1	0	0	3	1	2	10			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr8:119593041A>T	uc003yom.2	-	1	234	c.105T>A	c.(103-105)tcT>tcA	p.S35S	SAMD12_uc010mda.1_Silent_p.S35S|SAMD12_uc010mdb.1_Non-coding_Transcript	NM_207506	NP_997389	Q8N8I0	SAM12_HUMAN	Homo sapiens sterile alpha motif domain containing 12 (SAMD12), transcript variant 2, mRNA.	35										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TAATGGATTGAGATTCCACAC	0.453													T	119593041	A	T	119593041	2	4	169	1	0	0	0	0	0	0	0	1	13908	291	11	5		5	SAMD12	8	119593041	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08		119593041	26770981	23	11800											
TBC1D2	55357	broad.mit.edu	37	chr9	100971301	100971301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgctccctcagcggcCgatccacagcctcgaggccc	6	4	10	21	4	1	0	1	0	0	0	4	2	3	0	6	2	3	1	6	2	0	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr9:100971301C>T	uc011lvb.2	-	8	1979	c.1799G>A	c.(1798-1800)cGg>cAg	p.R600Q	TBC1D2_uc004ayp.3_Missense_Mutation_p.R140Q|TBC1D2_uc004ayq.3_Missense_Mutation_p.R600Q|TBC1D2_uc004ayr.3_Missense_Mutation_p.R382Q	NM_018421	NP_060891	Q9BYX2	TBD2A_HUMAN	Homo sapiens TBC1 domain family, member 2 (TBC1D2), mRNA.	600						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CCTCAGCGGCCGATCCACAGC	0.652													T	100971301	C	T	100971301	3	4	169	1	0	0	0	0	1	0	0	0	15705	652	23	1	974	1	TBC1D2	9	100971301	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		100971301	40242130	24	11801											
PRKG1	5592	broad.mit.edu	37	chr10	54053584	54053584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcacccacagacacaaGtaattttgacagtttccctg	12	11	6	12	0	1	2	1	1	0	1	2	2	2	2	2	0	1	3	2	0	2	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:54053584G>A	uc001jjm.3	+	17	2168	c.1940G>A	c.(1939-1941)aGt>aAt	p.S647N	PRKG1_uc001jjo.3_Missense_Mutation_p.S662N|PRKG1_uc009xow.2_Missense_Mutation_p.S365N|LOC100506939_uc021pqu.1_Intron	NM_001098512	NP_001091982	Q13976	KGP1_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type I (PRKG1), transcript variant 1, mRNA.	647	AGC-kinase C-terminal.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity	p.L647L(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ACAGACACAAGTAATTTTGAC	0.388													A	54053584	G	A	54053584	3	1	169	1	0	0	0	0	1	0	0	0	12608	1029	36	2	2325	2	PRKG1	10	54053584	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		54053584	81481163	25	11802											
RRP12	23223	broad.mit.edu	37	chr10	99130292	99130292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcttccgtgcgcccaccGacacctccttggtgcacagg	5	9	10	17	4	1	0	0	0	1	0	3	1	3	0	5	2	2	2	5	2	0	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr10:99130292G>A	uc001knf.3	-	22	2748	c.2609C>T	c.(2608-2610)tCg>tTg	p.S870L	RRP12_uc009xvl.3_5'UTR|RRP12_uc009xvm.3_Missense_Mutation_p.S588L|RRP12_uc010qou.2_Missense_Mutation_p.S809L|RRP12_uc009xvn.3_Missense_Mutation_p.S770L	NM_015179	NP_055994	Q5JTH9	RRP12_HUMAN	Homo sapiens ribosomal RNA processing 12 homolog (S. cerevisiae) (RRP12), transcript variant 1, mRNA.	870						integral to membrane|nuclear membrane|nucleolus	protein binding	p.S870L(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGCGCCCACCGACACCTCCTT	0.612													A	99130292	G	A	99130292	3	1	169	1	0	0	0	0	1	0	0	0	13777	1059	37	1	1332	1	RRP12	10	99130292	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	45076708	99130292	36404455	26	11803											
RIC8A	60626	broad.mit.edu	37	chr11	209871	209871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgacacactggagctgacGctgggggtgactcctgaagg	9	7	15	10	1	0	4	0	4	0	0	1	5	1	5	1	4	1	2	1	4	1	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:209871G>A	uc001lof.3	+	2	922	c.597G>A	c.(595-597)acG>acA	p.T199T	BET1L_uc001loe.2_5'Flank|BET1L_uc001lod.2_5'Flank|RIC8A_uc001log.3_Silent_p.T199T|RIC8A_uc001loh.3_Silent_p.T192T	NM_021932	NP_068751	Q9NPQ8	RIC8A_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog A (C. elegans) (RIC8A), mRNA.	199						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGGAGCTGACGCTGGGGGTGA	0.602													A	209871	G	A	209871	2	1	169	1	0	0	0	0	0	0	0	1	13444	1074	38	1		1	RIC8A	11	209871	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		209871	134796645	27	11804											
MMP3	4314	broad.mit.edu	37	chr11	102709358	102709358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatcgattttcctcaCggttggagggaaacctaggg	8	10	14	9	2	1	0	1	0	0	0	3	3	2	2	2	5	2	3	2	5	2	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:102709358C>T	uc001phj.1	-	7	1218	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	385					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTTCCTCACGGTTGGAGGG	0.403													T	102709358	C	T	102709358	3	4	169	1	0	0	0	0	1	0	0	0	9742	536	19	1	292	1	MMP3	11	102709358	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	102499487	102709358	32297158	28	11805											
SCN2B	6327	broad.mit.edu	37	chr11	118037799	118037799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtggagtcccgctcaggggGctctggaaaggaagcagagc	9	5	17	10	2	2	1	1	0	1	1	3	4	3	4	1	5	2	3	1	5	2	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr11:118037799G>T	uc001psf.2	-	3	642	c.451C>A	c.(451-453)Ccc>Acc	p.P151T		NM_004588	NP_004579	O60939	SCN2B_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, beta (SCN2B), mRNA.	151	Ig-like C2-type.				synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		CGCTCAGGGGGCTCTGGAAAG	0.627													T	118037799	G	T	118037799	3	4	169	1	0	0	0	0	1	0	0	0	14010	1203	42	4	200	4	SCN2B	11	118037799	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	15328441	118037799	16968717	29	11806											
PIWIL1	9271	broad.mit.edu	37	chr12	130833883	130833883	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccttcgaagtgagacTgttttggatttcatgttcaa	11	15	9	6	1	2	1	2	1	0	1	4	4	3	2	1	1	0	2	1	1	3	5			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr12:130833883T>A	uc001uik.3	+	7	1105	c.834T>A	c.(832-834)acT>acA	p.T278T	PIWIL1_uc001uij.2_Silent_p.T278T	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	278	PAZ.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		GAAGTGAGACTGTTTTGGATT	0.383													A	130833883	T	A	130833883	2	1	169	1	0	0	0	0	0	0	0	1	12034	1567	55	5		5	PIWIL1	12	130833883	Silent	SNP	T	TCGA-19-5958-01A-11D-1696-08		130833883	3018012	30	11807											
IRS2	8660	broad.mit.edu	37	chr13	110436118	110436118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtagtccccgttgggCagcagcttgccatctgcatg	6	11	13	11	1	1	1	0	1	1	0	2	1	2	1	3	2	4	6	3	2	1	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr13:110436118C>T	uc001vqv.3	-	0	2797	c.2283G>A	c.(2281-2283)ctG>ctA	p.L761L		NM_003749	NP_003740	Q9Y4H2	IRS2_HUMAN	Homo sapiens insulin receptor substrate 2 (IRS2), mRNA.	761					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			CCCCGTTGGGCAGCAGCTTGC	0.692													T	110436118	C	T	110436118	2	4	169	1	0	0	0	0	0	0	0	1	7899	697	25	2		2	IRS2	13	110436118	Silent	SNP	C	TCGA-19-5958-01A-11D-1696-08		110436118	4733760	31	11808											
NFATC4	4776	broad.mit.edu	37	chr14	24845826	24845826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgacccgtatggagggCggggctcctctttctccctg	4	11	13	13	2	2	1	0	1	2	0	4	2	3	2	3	4	0	2	3	4	2	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:24845826C>T	uc001wpc.3	+	8	2704	c.2383C>T	c.(2383-2385)Cgg>Tgg	p.R795W	NFATC4_uc010alr.3_Intron|NFATC4_uc010tok.2_Missense_Mutation_p.R858W|NFATC4_uc010tol.2_Missense_Mutation_p.R858W|NFATC4_uc010too.2_Intron|NFATC4_uc010tom.2_Missense_Mutation_p.R808W|NFATC4_uc010ton.2_Missense_Mutation_p.R808W|NFATC4_uc010toq.2_Intron|NFATC4_uc010alt.3_Missense_Mutation_p.R827W|NFATC4_uc010top.2_Missense_Mutation_p.R827W|NFATC4_uc010tor.2_Intron|NFATC4_uc010tos.2_Missense_Mutation_p.R725W|NFATC4_uc010tot.2_Missense_Mutation_p.R783W|NFATC4_uc010tou.2_Missense_Mutation_p.R725W|NFATC4_uc010tov.2_Intron|NFATC4_uc010tow.2_Intron|NFATC4_uc010alv.3_Missense_Mutation_p.R783W|NFATC4_uc010tox.2_Missense_Mutation_p.R725W|NFATC4_uc001wpd.3_Missense_Mutation_p.R330W|NFATC4_uc010toy.2_Intron|NFATC4_uc010toz.2_Missense_Mutation_p.R330W|NFATC4_uc010tpa.2_Missense_Mutation_p.R83W|NFATC4_uc010tpb.2_Missense_Mutation_p.R83W	NM_004554	NP_001185895	Q14934	NFAC4_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4 (NFATC4), transcript variant 2, mRNA.	795	Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		GTATGGAGGGCGGGGCTCCTC	0.642													T	24845826	C	T	24845826	3	4	169	1	0	0	0	0	1	0	0	0	10441	759	27	1	2610	1	NFATC4	14	24845826	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		24845826	82503714	32	11809											
C14orf105	55195	broad.mit.edu	37	chr14	57949812	57949812	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcattgtcctggcttctcGctggctcaggagtcttcctg	3	14	12	12	1	3	0	1	0	2	0	6	1	5	1	2	3	1	4	2	3	0	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr14:57949812G>A	uc010trl.1	-	2	507	c.364C>T	c.(364-366)Cga>Tga	p.R122*	C14orf105_uc001xcy.2_Nonsense_Mutation_p.R122*|C14orf105_uc010trm.1_Nonsense_Mutation_p.R34*|C14orf105_uc010trn.1_Nonsense_Mutation_p.R34*|C14orf105_uc001xcz.2_Nonsense_Mutation_p.R122*|C14orf105_uc010aox.1_Non-coding_Transcript|C14orf105_uc010aoy.2_Nonsense_Mutation_p.R44*	NM_018168	NP_060638	Q9NVL8	CN105_HUMAN	Homo sapiens chromosome 14 open reading frame 105 (C14orf105), mRNA.	122										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CTGGCTTCTCGCTGGCTCAGG	0.522													A	57949812	G	A	57949812	4	1	169	1	0	0	0	0	0	1	0	0	1750	1095	38	1	542	1	C14orf105	14	57949812	Nonsense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	33103986	57949812	49399728	33	11810											
ATP10A	57194	broad.mit.edu	37	chr15	25924506	25924506	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcactgtgaccgccttgaAgatgctcctataagtagtct	9	14	8	10	1	2	3	1	2	1	1	3	3	3	3	3	0	1	2	3	0	4	5			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr15:25924506A>T	uc010ayu.3	-	20	4588	c.4482T>A	c.(4480-4482)tcT>tcA	p.S1494S		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	1494					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ACCGCCTTGAAGATGCTCCTA	0.418													T	25924506	A	T	25924506	2	4	169	1	0	0	0	0	0	0	0	1	1121	59	3	5		5	ATP10A	15	25924506	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08		25924506	76606886	34	11811											
CACNA1H	8912	broad.mit.edu	37	chr16	1259347	1259347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggtggccctgcccagcGacttcttcctgcgcatcgac	5	9	12	15	3	1	0	0	0	1	0	3	2	2	0	3	3	3	1	3	3	0	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:1259347G>A	uc002cks.3	+	16	3927	c.3679G>A	c.(3679-3681)Gac>Aac	p.D1227N	CACNA1H_uc002ckt.3_Missense_Mutation_p.D1227N|CACNA1H_uc002cku.3_5'Flank|CACNA1H_uc010brj.3_5'Flank|CACNA1H_uc002ckv.3_5'Flank	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	1227					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CCTGCCCAGCGACTTCTTCCT	0.736													A	1259347	G	A	1259347	3	1	169	1	0	0	0	0	1	0	0	0	2571	1058	37	1	3741	1	CACNA1H	16	1259347	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		1259347	89095406	35	11812											
MGRN1	23295	broad.mit.edu	37	chr16	4731589	4731589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggctacgagcccatctcGctgctcgaggcgctcaacgg	6	7	12	16	5	2	0	1	0	1	0	4	2	2	0	2	3	4	4	2	3	2	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:4731589G>A	uc002cxa.3	+	12	1307	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	MGRN1_uc002cwz.3_Silent_p.S390S|MGRN1_uc010uxo.2_Silent_p.S368S|MGRN1_uc010uxp.2_Silent_p.S368S|MGRN1_uc010btw.3_Silent_p.S369S|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	390					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						AGCCCATCTCGCTGCTCGAGG	0.647													A	4731589	G	A	4731589	2	1	169	1	0	0	0	0	0	0	0	1	9634	1074	38	1		1	MGRN1	16	4731589	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	3472242	4731589	85623164	36	11813											
NKD1	85407	broad.mit.edu	37	chr16	50664787	50664787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccactgaggacctgCggagctgggagaagaagcag	12	3	15	11	1	0	3	0	1	0	2	0	6	0	5	3	3	4	2	3	3	3	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:50664787C>T	uc002egg.2	+	7	885	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W		NM_033119	NP_149110	Q969G9	NKD1_HUMAN	Homo sapiens naked cuticle homolog 1 (Drosophila) (NKD1), mRNA.	221					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		TGAGGACCTGCGGAGCTGGGA	0.612													T	50664787	C	T	50664787	3	4	169	1	0	0	0	0	1	0	0	0	10517	759	27	1	691	1	NKD1	16	50664787	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	45933198	50664787	39689966	37	11814											
CNGB1	1258	broad.mit.edu	37	chr16	57949167	57949167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctacctttaaacagcgggGcaggcggaggagggggttca	9	7	16	9	2	1	0	1	0	0	0	2	2	2	2	2	7	3	2	2	7	3	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr16:57949167G>A	uc002emt.2	-	22	2355	c.2290C>T	c.(2290-2292)Ccc>Tcc	p.P764S	CNGB1_uc010cdh.2_Missense_Mutation_p.P758S	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	764					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						AAACAGCGGGGCAGGCGGAGG	0.602													A	57949167	G	A	57949167	3	1	169	1	0	0	0	0	1	0	0	0	3631	1203	42	2	1509	2	CNGB1	16	57949167	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	7284380	57949167	32405586	38	11815											
MYH4	4622	broad.mit.edu	37	chr17	10355578	10355578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggagaggtcagagcGctgcttctctgctttggccc	4	10	13	14	2	2	2	1	0	1	2	4	3	3	2	2	3	3	3	2	3	0	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:10355578G>A	uc002gmn.3	-	26	3529	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	1140					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AGGTCAGAGCGCTGCTTCTCT	0.582													A	10355578	G	A	10355578	3	1	169	1	0	0	0	0	1	0	0	0	10113	1087	38	1	2457	1	MYH4	17	10355578	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		10355578	70839632	39	11816											
DNAH9	1770	broad.mit.edu	37	chr17	11572540	11572540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggataccatctctggtgcCacggctttccccacaaaatg	10	10	8	13	1	1	0	0	0	1	0	3	1	2	1	4	3	2	1	4	3	4	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:11572540C>T	uc002gne.3	+	15	2959	c.2891C>T	c.(2890-2892)cCa>cTa	p.P964L	DNAH9_uc010coo.3_Missense_Mutation_p.P258L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	964	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCTCTGGTGCCACGGCTTTCC	0.527													T	11572540	C	T	11572540	3	4	169	1	0	0	0	0	1	0	0	0	4647	594	21	2	2953	2	DNAH9	17	11572540	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	1216962	11572540	69622670	40	11817											
ERAL1	26284	broad.mit.edu	37	chr17	27182172	27182172	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcactcttaggcttccaAcggaggtgcgtgtcctgcgt	5	12	11	13	3	2	0	1	0	1	0	5	1	5	1	3	3	3	1	3	3	2	2			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr17:27182172A>G	uc002hcy.1	+	0	130	c.120A>G	c.(118-120)caA>caG	p.Q40Q	ERAL1_uc002hcx.1_Silent_p.Q40Q|ERAL1_uc002hcz.1_Non-coding_Transcript|ERAL1_uc002hda.1_5'Flank	NM_005702	NP_005693	O75616	ERAL1_HUMAN	Homo sapiens Era G-protein-like 1 (E. coli) (ERAL1), mRNA.	40					ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			TAGGCTTCCAACGGAGGTGCG	0.627													G	27182172	A	G	27182172	2	3	169	1	0	0	0	0	0	0	0	1	5243	40	2	3		3	ERAL1	17	27182172	Silent	SNP	A	TCGA-19-5958-01A-11D-1696-08	15609632	27182172	54013038	41	11818											
ICAM4	3386	broad.mit.edu	37	chr19	10398453	10398453	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgtgatctgccacgcGcgcctcaatctcgacggcct	6	7	10	18	6	3	1	1	1	2	0	4	2	3	1	4	1	2	0	4	1	1	0			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:10398453G>A	uc002mnr.2	+	1	605	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	ICAM4_uc002mns.2_Silent_p.A212A|ICAM4_uc002mnt.2_Silent_p.A212A|ICAM5_uc002mnu.4_5'Flank	NM_001039132	NP_001034221	Q14773	ICAM4_HUMAN	Homo sapiens intercellular adhesion molecule 4 (Landsteiner-Wiener blood group) (ICAM4), transcript variant 3, mRNA.	0	Ig-like C2-type 2.				cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TCTGCCACGCGCGCCTCAATC	0.642													A	10398453	G	A	10398453	2	1	169	1	0	0	0	0	0	0	0	1	7540	1087	38	1		1	ICAM4	19	10398453	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08		10398453	48730530	42	11819											
OR10H1	26539	broad.mit.edu	37	chr19	15918076	15918076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcttcaggtaaatgaCggaggcaaagccatagtgca	12	9	13	7	1	1	1	1	1	0	0	1	2	1	2	1	4	2	4	1	4	4	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:15918076C>T	uc002nbq.2	-	0	861	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGGTAAATGACGGAGGCAAAG	0.552													T	15918076	C	T	15918076	3	4	169	1	0	0	0	0	1	0	0	0	10981	536	19	1	188	1	OR10H1	19	15918076	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08	5519623	15918076	43210907	43	11820											
PSG9	5678	broad.mit.edu	37	chr19	43766196	43766196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaccataggtagcttgcGtccagagtctcaggatcaca	11	9	9	12	1	2	1	2	0	1	1	5	2	4	2	3	2	2	2	3	2	2	3	rs150952802		TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:43766196G>A	uc002owd.4	-	2	624	c.525C>T	c.(523-525)gaC>gaT	p.D175D	PSG9_uc002owe.4_Silent_p.D175D|PSG9_uc010xwm.2_Intron|PSG9_uc002owf.4_Intron|PSG9_uc002owg.2_Silent_p.D175D	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	175	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGTAGCTTGCGTCCAGAGTCT	0.532													A	43766196	G	A	43766196	2	1	169	1	0	0	0	0	0	0	0	1	12747	1136	40	1		1	PSG9	19	43766196	Silent	SNP	G	TCGA-19-5958-01A-11D-1696-08	27848120	43766196	15362787	44	11821											
PLEKHA4	57664	broad.mit.edu	37	chr19	49360714	49360714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgggtcccagggggccGcggggggagctggagataag	6	3	22	10	3	0	1	0	0	0	1	1	3	1	2	3	8	1	1	3	8	1	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr19:49360714G>A	uc002pkx.3	-	8	1563	c.1012C>T	c.(1012-1014)Cgg>Tgg	p.R338W	PLEKHA4_uc010eml.3_Intron	NM_020904	NP_065955	Q9H4M7	PKHA4_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4 (PLEKHA4), transcript variant 1, mRNA.	338	Pro-rich.					cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		CCAGGGGGCCGCGGGGGGAGC	0.542													A	49360714	G	A	49360714	3	1	169	1	0	0	0	0	1	0	0	0	12135	1086	38	1	1375	1	PLEKHA4	19	49360714	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08	5594518	49360714	9768269	45	11822											
GFRA4	64096	broad.mit.edu	37	chr20	3640606	3640606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatggagagcagggagcGtctctccagggccctgcctg	8	7	15	11	1	1	1	0	0	1	1	3	3	2	2	3	3	3	2	3	3	2	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr20:3640606G>A	uc002wio.3	-	4	850	c.850C>T	c.(850-852)Cgc>Tgc	p.R284C	GFRA4_uc002win.3_Missense_Mutation_p.R254C	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	284						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						AGCAGGGAGCGTCTCTCCAGG	0.642													A	3640606	G	A	3640606	3	1	169	1	0	0	0	0	1	0	0	0	6406	1145	40	1	53	1	GFRA4	20	3640606	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		3640606	59384914	46	11823											
MX2	4600	broad.mit.edu	37	chr21	42770891	42770891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgaccgaggagctgcggcGttgcggggctgacatcccca	6	5	17	13	5	0	1	0	1	0	0	1	4	1	2	3	5	3	3	3	5	0	1			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chr21:42770891G>A	uc002yzf.1	+	8	1321	c.1217G>A	c.(1216-1218)cGt>cAt	p.R406H	MX2_uc011aer.1_Non-coding_Transcript|MX2_uc002yzg.1_Missense_Mutation_p.R129H|MX2_uc010gop.1_5'UTR	NM_002463	NP_002454	P20592	MX2_HUMAN	Homo sapiens myxovirus (influenza virus) resistance 2 (mouse) (MX2), mRNA.	406					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GAGCTGCGGCGTTGCGGGGCT	0.527													A	42770891	G	A	42770891	3	1	169	1	0	0	0	0	1	0	0	0	10074	1145	40	1	1247	1	MX2	21	42770891	Missense_Mutation	SNP	G	TCGA-19-5958-01A-11D-1696-08		42770891	5359004	47	11824											
TBC1D8B	54885	broad.mit.edu	37	chrX	106109162	106109162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgttgagtccctgggCtcattctgcaaataaagact	10	13	8	10	0	3	2	2	1	1	1	4	2	4	2	1	1	1	3	1	1	3	4			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrX:106109162C>T	uc004emo.3	+	15	2726	c.2561C>T	c.(2560-2562)gCt>gTt	p.A854V	MORC4_uc004emp.4_Intron	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	854						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGTCCCTGGGCTCATTCTGCA	0.408													T	106109162	C	T	106109162	3	4	169	1	0	0	0	0	1	0	0	0	15726	797	28	2	2689	2	TBC1D8B	23	106109162	Missense_Mutation	SNP	C	TCGA-19-5958-01A-11D-1696-08		106109162	49161398	48	11825											
PCDH11Y	83259	broad.mit.edu	37	chrY	4925190	4925190	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgtgccactgattcgaaTtgaagaggatactggtgaga	13	10	13	5	1	0	5	0	3	0	3	1	8	0	6	1	2	2	0	1	2	3	3			TCGA-19-5958-01A-11D-1696-08	TCGA-19-5958-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd385a8e-d6dc-4e65-a023-ce485793c410	eafda2ee-1ee1-4fe4-8ceb-953e687102e9	g.chrY:4925190T>A	uc004fqo.3	+	0	1060	c.326T>A	c.(325-327)aTt>aAt	p.I109N	PCDH11Y_uc010nwg.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fql.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqm.1_Missense_Mutation_p.I98N|PCDH11Y_uc004fqn.1_Missense_Mutation_p.I109N	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTGATTCGAATTGAAGAGGAT	0.443													A	4925190	T	A	4925190	3	1	169	1	0	0	0	0	1	0	0	0	11585	1493	52	5	364	5	PCDH11Y	24	4925190	Missense_Mutation	SNP	T	TCGA-19-5958-01A-11D-1696-08		4925190	54448376	49	11826											
SKI	6497	broad.mit.edu	37	chr1	2234792	2234792	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcccccgcagtgtcagcGagtgagaaagagctctcccc	8	7	12	14	2	2	2	1	1	1	2	4	4	3	2	4	1	2	2	4	1	1	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:2234792G>A	uc001aja.4	+	2	1236	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_003036	NP_003027	P12755	SKI_HUMAN	Homo sapiens v-ski sarcoma viral oncogene homolog (avian) (SKI), mRNA.	388					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		CAGTGTCAGCGAGTGAGAAAG	0.622													A	2234792	G	A	2234792	2	1	170	1	0	0	0	0	0	0	0	1	14451	1045	37	1		1	SKI	1	2234792	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		2234792	247015829	1	11827											
HIVEP3	59269	broad.mit.edu	37	chr1	42048030	42048030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccaagccactcggctgCtcgagagaatcagatttctc	9	10	8	14	2	2	2	1	0	1	2	6	4	3	2	3	1	2	2	3	1	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:42048030C>T	uc001cgz.4	-	3	3652	c.2439G>A	c.(2437-2439)gaG>gaA	p.E813E	HIVEP3_uc001cha.4_Silent_p.E813E|HIVEP3_uc001cgy.3_Non-coding_Transcript	NM_024503	NP_078779	Q5T1R4	ZEP3_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 3 (HIVEP3), transcript variant 1, mRNA.	813	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				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)				CACTCGGCTGCTCGAGAGAAT	0.557													T	42048030	C	T	42048030	2	4	170	1	0	0	0	0	0	0	0	1	7243	796	28	2		2	HIVEP3	1	42048030	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	39813238	42048030	207202591	2	11828											
ZYG11B	79699	broad.mit.edu	37	chr1	53250588	53250588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaccaccctatgaatttgCcagtgcaactggctgcaagc	12	8	9	12	0	0	1	0	1	0	0	0	2	0	1	3	1	6	3	3	1	5	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:53250588C>T	uc001cuj.3	+	4	1327	c.1132C>T	c.(1132-1134)Cca>Tca	p.P378S	ZYG11B_uc009vzg.3_Non-coding_Transcript|ZYG11B_uc010onj.2_Missense_Mutation_p.P369S	NM_024646	NP_078922	Q9C0D3	ZY11B_HUMAN	Homo sapiens zyg-11 homolog B (C. elegans) (ZYG11B), mRNA.	378							protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	30						TATGAATTTGCCAGTGCAACT	0.458													T	53250588	C	T	53250588	3	4	170	1	0	0	0	0	1	0	0	0	18350	739	26	2	1150	2	ZYG11B	1	53250588	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	11202558	53250588	196000033	3	11829											
PCSK9	255738	broad.mit.edu	37	chr1	55527067	55527067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcagctcccactgggaGgtggaggaccttggcaccca	7	6	15	13	0	0	0	0	0	0	0	1	3	1	3	3	6	2	4	3	6	0	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:55527067G>A	uc001cyf.2	+	10	2063	c.1701G>A	c.(1699-1701)gaG>gaA	p.E567E	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	567					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						CCCACTGGGAGGTGGAGGACC	0.642													A	55527067	G	A	55527067	2	1	170	1	0	0	0	0	0	0	0	1	11682	991	35	2		2	PCSK9	1	55527067	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	2276479	55527067	193723554	4	11830											
TACSTD2	4070	broad.mit.edu	37	chr1	59041860	59041860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccccgccgggtacctaCaagctcggttcctttctcaa	6	10	8	17	3	1	0	1	0	1	0	4	0	2	0	6	2	4	3	6	2	4	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:59041860C>T	uc001cyz.4	-	0	1307	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_002353	NP_002344	P09758	TACD2_HUMAN	Homo sapiens tumor-associated calcium signal transducer 2 (TACSTD2), mRNA.	323					cell proliferation|cell surface receptor linked signaling pathway|visual perception	cytosol|integral to plasma membrane	receptor activity					all_cancers(7;6.54e-05)					CGGGTACCTACAAGCTCGGTT	0.592													T	59041860	C	T	59041860	2	4	170	1	0	0	0	0	0	0	0	1	15605	477	17	2		2	TACSTD2	1	59041860	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	3514793	59041860	190208761	5	11831											
DDX20	11218	broad.mit.edu	37	chr1	112305594	112305594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatatgatgatgagaattgCccagaaatgtaatatcaacc	18	10	7	6	0	1	4	1	3	0	2	1	5	1	4	2	0	2	1	2	0	7	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:112305594C>T	uc001ebs.3	+	9	1634	c.1277C>T	c.(1276-1278)gCc>gTc	p.A426V	DDX20_uc010owf.2_Missense_Mutation_p.A188V|DDX20_uc001ebt.3_Missense_Mutation_p.A34V	NM_007204	NP_009135	Q9UHI6	DDX20_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 20 (DDX20), mRNA.	426	Helicase C-terminal.				assembly of spliceosomal tri-snRNP|ncRNA metabolic process	Cajal body|cytoskeleton|cytosol|spliceosomal complex	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding	p.I425N(1)		endometrium(3)|kidney(7)|large_intestine(6)|lung(3)|pancreas(1)|prostate(1)	21		all_cancers(81;1.06e-05)|all_epithelial(167;7.36e-06)|all_lung(203;2.44e-05)|Lung NSC(69;4.15e-05)		Lung(183;0.0234)|Colorectal(144;0.0282)|all cancers(265;0.0614)|Epithelial(280;0.0999)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGAGAATTGCCCAGAAATGT	0.353													T	112305594	C	T	112305594	3	4	170	1	0	0	0	0	1	0	0	0	4382	739	26	2	1315	2	DDX20	1	112305594	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	53263734	112305594	136945027	6	11832											
CRNN	49860	broad.mit.edu	37	chr1	152382359	152382359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgggcctgtcctcccGgtactgtctctcctgcctca	3	12	9	17	1	3	0	1	0	2	0	7	0	6	0	5	2	2	1	5	2	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:152382359G>A	uc001ezx.2	-	2	1273	c.1199C>T	c.(1198-1200)cCg>cTg	p.P400L		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	400					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding	p.P400L(2)		breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTCCTCCCGGTACTGTCTC	0.612													A	152382359	G	A	152382359	3	1	170	1	0	0	0	0	1	0	0	0	3923	1116	39	1	292	1	CRNN	1	152382359	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	40076765	152382359	96868262	7	11833											
CD1D	912	broad.mit.edu	37	chr1	158153825	158153825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccggtttaagaggcaaaCgtaagtctcccctttccctt	8	12	7	14	2	1	1	0	0	1	1	4	1	3	1	4	2	1	3	4	2	3	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:158153825C>T	uc001frr.3	+	6	1485	c.986_splice	c.e6+1	p.T329_splice	CD1D_uc009wss.3_Splice_Site_p.T236_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGAGGCAAACGTAAGTCTCC	0.512													T	158153825	C	T	158153825	3	4	170	1	0	0	0	0	1	0	0	0	3007	550	19	1	1004	1	CD1D	1	158153825	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	5771466	158153825	91096796	8	11834											
SERPINC1	462	broad.mit.edu	37	chr1	173883833	173883833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatagaaagtggtagcaaagCgggaattggccttggacagt	13	8	15	5	1	0	1	0	0	0	1	0	4	0	3	1	4	2	2	1	4	5	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:173883833C>T	uc001gjt.3	-	1	385	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_000488	NP_000479	P01008	ANT3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade C (antithrombin), member 1 (SERPINC1), mRNA.	89			R -> C (in AT3D; type-I).		blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	GGTAGCAAAGCGGGAATTGGC	0.532											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	173883833	C	T	173883833	3	4	170	1	0	0	0	0	1	0	0	0	14202	768	27	1	1152	1	SERPINC1	1	173883833	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	15730008	173883833	75366788	9	11835											
PRG4	10216	broad.mit.edu	37	chr1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggattctcagtactggcGttttaccaatgatataaaag	13	13	8	7	1	2	1	2	1	1	0	3	2	2	2	1	2	2	2	1	2	6	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:186280588G>A	uc001gru.4	+	9	3704	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	MIR548F1_uc021pgf.1_Intron|PRG4_uc001grt.4_Missense_Mutation_p.R1177H|PRG4_uc009wyl.3_Missense_Mutation_p.R1125H|PRG4_uc009wym.3_Missense_Mutation_p.R1084H|PRG4_uc010poo.2_Non-coding_Transcript	NM_005807	NP_005798	Q92954	PRG4_HUMAN	Homo sapiens proteoglycan 4 (PRG4), transcript variant A, mRNA.	1218	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			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						CAGTACTGGCGTTTTACCAAT	0.353													A	186280588	G	A	186280588	3	1	170	1	0	0	0	0	1	0	0	0	12567	1145	40	1	3687	1	PRG4	1	186280588	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	12396755	186280588	62970033	10	11836											
LHX9	56956	broad.mit.edu	37	chr1	197889248	197889248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagctggccctcgagtcCgagctcacctgctttgccaa	7	10	10	14	2	1	0	1	0	0	0	3	2	2	0	4	1	4	4	4	1	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:197889248C>T	uc001guk.1	+	1	758	c.321C>T	c.(319-321)tcC>tcT	p.S107S	LHX9_uc001gui.1_Silent_p.S98S	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	107	LIM zinc-binding 1.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	p.S107S(2)|p.E106G(1)|p.S98S(1)		endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						CCCTCGAGTCCGAGCTCACCT	0.557													T	197889248	C	T	197889248	2	4	170	1	0	0	0	0	0	0	0	1	8837	639	23	1		1	LHX9	1	197889248	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	11608660	197889248	51361373	11	11837											
OBSCN	84033	broad.mit.edu	37	chr1	228509734	228509734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgcatccgttttgaggcGctcactgaggcccgccaggc	6	9	12	14	3	2	2	1	2	1	0	3	2	3	2	3	3	1	3	3	3	0	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr1:228509734G>A	uc009xez.1	+	54	15236	c.15192G>A	c.(15190-15192)gcG>gcA	p.A5064A	OBSCN_uc001hsn.3_Silent_p.A5064A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	5064					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.T5063S(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GTTTTGAGGCGCTCACTGAGG	0.612													A	228509734	G	A	228509734	2	1	170	1	0	0	0	0	0	0	0	1	10888	1074	38	1		1	OBSCN	1	228509734	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	30620486	228509734	20740887	12	11838											
CCDC88A	55704	broad.mit.edu	37	chr2	55563820	55563821	+	Frame_Shift_Del	DEL	TC	TC	-																															gtaaaaaatgtatgaacctgTctctctgaattttctctcag																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:55563820_55563821delTC	uc002ryv.2	-	13	2494_2495	c.1652_1653delGA	c.(1651-1653)agafs	p.R551fs	CCDC88A_uc010ypa.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010yoz.1_Frame_Shift_Del_p.R551fs|CCDC88A_uc010ypb.1_Frame_Shift_Del_p.R453fs|CCDC88A_uc002ryu.2_5'Flank|CCDC88A_uc002ryw.3_5'Flank	NM_001135597	NP_001129069	Q3V6T2	GRDN_HUMAN	Homo sapiens coiled-coil domain containing 88A (CCDC88A), transcript variant 1, mRNA.	551					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TATGAACCTGTCTCTCTGAATT	0.262													-	55563821	TC	-	55563820	7	5	170	1	0	1	0	1	0	0	0	0	2891	1664	58	0	4038	0	CCDC88A	2	55563820	Frame_Shift_Del	DEL	TC	TCGA-19-5959-01A-11D-1696-08		55563820	187635553	13	11839											
SMYD5	10322	broad.mit.edu	37	chr2	73453009	73453011	+	In_Frame_Del	DEL	GAG	GAG	-																															cctcagaagaggaagaggaaGaggaggaggaggaggaagga																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:73453009_73453011delGAG	uc002siw.2	+	12	1221_1223	c.1192_1194delGAG	c.(1192-1194)gagdel	p.E403del	SMYD5_uc010yre.1_In_Frame_Del_p.E287del	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	403	Glu-rich.						metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						ggaagaggaagaggaggaggagg	0.562													-	73453011	GAG	-	73453009	7	5	170	1	0	1	0	1	0	0	0	0	14919	943	33	0	1242	0	SMYD5	2	73453009	In_Frame_Del	DEL	GAG	TCGA-19-5959-01A-11D-1696-08	17889189	73453009	169746364	14	11840											
IL18RAP	8807	broad.mit.edu	37	chr2	103040451	103040451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacctatctgatgtccaatGgtaccaacaaccttcgaatg	12	10	7	12	2	1	1	0	1	1	0	3	3	2	1	4	1	3	1	4	1	6	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:103040451G>T	uc002tbx.3	+	3	735	c.251G>T	c.(250-252)tGg>tTg	p.W84L	IL18RAP_uc010fiz.3_Intron	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	84					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GATGTCCAATGGTACCAACAA	0.458													T	103040451	G	T	103040451	3	4	170	1	0	0	0	0	1	0	0	0	7706	1357	47	4	257	4	IL18RAP	2	103040451	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	29587442	103040451	140158922	15	11841											
LRP2	4036	broad.mit.edu	37	chr2	170112639	170112639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagatggcaagtccaaacGgatgtgtcatctgctctata	13	10	9	9	1	3	1	1	0	2	1	4	2	4	2	1	2	2	2	1	2	5	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:170112639G>A	uc002ues.3	-	18	2960	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	LRP2_uc010zdf.1_Missense_Mutation_p.P779L	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	916					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.P916Q(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AAGTCCAAACGGATGTGTCAT	0.378													A	170112639	G	A	170112639	3	1	170	1	0	0	0	0	1	0	0	0	9026	1116	39	1	11464	1	LRP2	2	170112639	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	67072188	170112639	73086734	16	11842											
TTN	7273	broad.mit.edu	37	chr2	179442111	179442111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctaatgtcttttcctGccttggaccaacttgatttt	7	18	7	9	0	2	1	0	1	2	0	3	2	3	2	3	2	2	0	3	2	2	7			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:179442111G>A	uc021vsy.1	-	272	61472	c.61247C>T	c.(61246-61248)gCa>gTa	p.A20416V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A14111V|TTN_uc021vta.1_Missense_Mutation_p.A14044V|TTN_uc021vtb.1_Missense_Mutation_p.A13919V|AX746670_uc002umv.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	21343	Fibronectin type-III 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTTTCCTGCCTTGGACCA	0.403													A	179442111	G	A	179442111	3	1	170	1	0	0	0	0	1	0	0	0	16837	1319	46	2	39184	2	TTN	2	179442111	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	9329472	179442111	63757262	17	11843											
MFF	56947	broad.mit.edu	37	chr2	228195421	228195421	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagtacgaaatggaatatActgaaggcattagtcagcga	15	10	10	6	2	2	1	2	1	0	0	2	4	2	2	0	2	3	2	0	2	7	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:228195421A>T	uc002vos.3	+	3	530	c.118A>T	c.(118-120)Act>Tct	p.T40S	MFF_uc002vot.3_Missense_Mutation_p.T14S|MFF_uc002vow.3_Missense_Mutation_p.T14S|MFF_uc002voy.3_Missense_Mutation_p.T40S|MFF_uc021vxu.1_Missense_Mutation_p.T14S|MFF_uc002voz.3_Missense_Mutation_p.T14S	NM_020194	NP_064579	Q9GZY8	MFF_HUMAN	Homo sapiens mitochondrial fission factor (MFF), nuclear gene encoding mitochondrial protein, mRNA.	40						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AATGGAATATACTGAAGGCAT	0.458													T	228195421	A	T	228195421	3	4	170	1	0	0	0	0	1	0	0	0	9594	391	14	5	124	5	MFF	2	228195421	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	48753310	228195421	15003952	18	11844											
UGT1A1	54575	broad.mit.edu	37	chr2	234545533	234545533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcttgacttatttttttCgcattgcaggagtttgttta	6	23	7	5	1	1	1	0	1	1	0	2	2	1	2	0	1	1	4	0	1	2	11	rs145610800		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:234545533C>T	uc002vur.3	+	0	411	c.365C>T	c.(364-366)tCg>tTg	p.S122L	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Missense_Mutation_p.S122L	NM_019075	NP_061948	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A10 (UGT1A10), mRNA.	125					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TTATTTTTTTCGCATTGCAGG	0.363													T	234545533	C	T	234545533	3	4	170	1	0	0	0	0	1	0	0	0	17046	893	31	1		1	UGT1A1	2	234545533	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	6350112	234545533	8653840	19	11845											
NEU4	129807	broad.mit.edu	37	chr2	242755707	242755707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctcgtaccccttcacGgacagtgctcttcgagcggg	5	9	12	15	4	2	0	1	0	1	0	5	2	3	1	3	3	3	2	3	3	1	3	rs138212045		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr2:242755707G>A	uc002wcp.2	+	1	559	c.65G>A	c.(64-66)cGg>cAg	p.R22Q	NEU4_uc010fzr.3_Missense_Mutation_p.R9Q|NEU4_uc002wcm.3_Missense_Mutation_p.R9Q|NEU4_uc002wco.2_Missense_Mutation_p.R9Q|NEU4_uc002wcn.2_Missense_Mutation_p.R21Q	NM_001167599	NP_001161074	Q8WWR8	NEUR4_HUMAN	Homo sapiens sialidase 4 (NEU4), transcript variant 2, mRNA.	9						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		ACCCCTTCACGGACAGTGCTC	0.692													A	242755707	G	A	242755707	3	1	170	1	0	0	0	0	1	0	0	0	10420	1116	39	1	71	1	NEU4	2	242755707	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	8210174	242755707	443666	20	11846											
FBLN2	2199	broad.mit.edu	37	chr3	13670420	13670420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacatcaacgagtgcaCgtcactgtccgagccatgtc	10	8	10	13	3	2	1	2	0	0	1	4	3	3	1	2	0	4	2	2	0	1	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670420C>T	uc011avc.2	+	11	2967	c.2585C>T	c.(2584-2586)aCg>aTg	p.T862M	FBLN2_uc011auz.2_Missense_Mutation_p.T841M|FBLN2_uc011avb.2_Missense_Mutation_p.T815M|FBLN2_uc011ava.2_Missense_Mutation_p.T862M	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	863	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			AACGAGTGCACGTCACTGTCC	0.662													T	13670420	C	T	13670420	3	4	170	1	0	0	0	0	1	0	0	0	5748	536	19	1	1317	1	FBLN2	3	13670420	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		13670420	184352010	21	11847											
FBLN2	2199	broad.mit.edu	37	chr3	13670486	13670486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggctcctacacatgccAgaggaacccgctgatctgcg	8	7	13	13	2	1	2	0	1	1	1	2	3	2	3	3	3	4	2	3	3	2	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:13670486A>G	uc011avc.2	+	11	3033	c.2651A>G	c.(2650-2652)cAg>cGg	p.Q884R	FBLN2_uc011auz.2_Missense_Mutation_p.Q863R|FBLN2_uc011avb.2_Missense_Mutation_p.Q837R|FBLN2_uc011ava.2_Missense_Mutation_p.Q884R	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	885	EGF-like 6; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TACACATGCCAGAGGAACCCG	0.652													G	13670486	A	G	13670486	3	3	170	1	0	0	0	0	1	0	0	0	5748	188	7	3	1383	3	FBLN2	3	13670486	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	66	13670486	184351944	22	11848											
KCNH8	131096	broad.mit.edu	37	chr3	19575088	19575088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctacacttgcaaacaggcGgggctgcttatacccaagca	11	7	10	13	1	0	0	0	0	0	0	0	0	0	0	2	3	6	4	2	3	5	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:19575088G>A	uc003cbk.1	+	15	3016	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R	KCNH8_uc010hex.1_Missense_Mutation_p.G402R	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 8 (KCNH8), mRNA.	941						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						GCAAACAGGCGGGGCTGCTTA	0.547													A	19575088	G	A	19575088	3	1	170	1	0	0	0	0	1	0	0	0	8096	1116	39	1	2883	1	KCNH8	3	19575088	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5904602	19575088	178447342	23	11849											
RTP3	83597	broad.mit.edu	37	chr3	46542293	46542293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaatgtctattcctaCgcatgccaaaaccacatctg	13	9	8	11	1	2	1	0	0	2	1	3	3	3	2	3	1	3	1	3	1	5	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:46542293C>T	uc003cps.1	+	1	671	c.603C>T	c.(601-603)taC>taT	p.Y201Y		NM_031440	NP_113628	Q9BQQ7	RTP3_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 3 (RTP3), mRNA.	201					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTATTCCTACGCATGCCAAA	0.453													T	46542293	C	T	46542293	2	4	170	1	0	0	0	0	0	0	0	1	13826	547	19	1		1	RTP3	3	46542293	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	26967205	46542293	151480137	24	11850											
DNAH1	25981	broad.mit.edu	37	chr3	52433096	52433096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggcctggatccaagatgGcatcccagctgtcttctgga	8	9	12	12	0	2	1	0	0	2	1	4	3	4	3	3	4	1	3	3	4	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52433096G>C	uc011bef.2	+	75	12581	c.12320G>C	c.(12319-12321)gGc>gCc	p.G4107A	DNAH1_uc003ddv.3_Missense_Mutation_p.G965A	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	4172					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)		ATCCAAGATGGCATCCCAGCT	0.532													C	52433096	G	C	52433096	3	2	170	1	0	0	0	0	1	0	0	0	4636	1203	42	4	12618	4	DNAH1	3	52433096	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5890803	52433096	145589334	25	11851											
NT5DC2	64943	broad.mit.edu	37	chr3	52563292	52563292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtcacgcaggctgatctcGttgttggcgtagatggctgc	6	11	14	10	4	2	2	1	1	1	1	3	2	2	2	0	3	1	6	0	3	1	3	rs148646310		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:52563292G>A	uc003den.3	-	1	331	c.291C>T	c.(289-291)aaC>aaT	p.N97N	NT5DC2_uc003dem.3_5'Flank|NT5DC2_uc010hmi.3_Silent_p.N97N|NT5DC2_uc010hmj.3_5'UTR|NT5DC2_uc003deo.3_Silent_p.N60N	NM_001134231	NP_001127703	Q9H857	NT5D2_HUMAN	Homo sapiens 5'-nucleotidase domain containing 2 (NT5DC2), transcript variant 1, mRNA.	60							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GGCTGATCTCGTTGTTGGCGT	0.592													A	52563292	G	A	52563292	2	1	170	1	0	0	0	0	0	0	0	1	10767	1136	40	1		1	NT5DC2	3	52563292	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	130196	52563292	145459138	26	11852											
KIAA1524	57650	broad.mit.edu	37	chr3	108276241	108276241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctctcaacttctctcaaCatactagcaagtgtccgtgc	9	14	5	13	1	4	0	2	0	2	0	7	0	5	0	1	0	5	1	1	0	5	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:108276241C>A	uc003dxb.4	-	16	2303	c.2034G>T	c.(2032-2034)atG>atT	p.M678I		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	678						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTCTCAACATACTAGCAA	0.368													A	108276241	C	A	108276241	3	1	170	1	0	0	0	0	1	0	0	0	8297	478	17	4	703	4	KIAA1524	3	108276241	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	55712949	108276241	89746189	27	11853											
PLSCR2	57047	broad.mit.edu	37	chr3	146177634	146177634	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttacgtatttgaaattaCctgacttaagtattccaatc	13	17	4	7	1	0	2	0	2	0	0	2	2	1	2	2	0	2	2	2	0	7	8			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr3:146177634C>T	uc021xfa.1	-	4	716	c.276_splice	c.e4+1	p.Q92_splice	PLSCR2_uc003evw.2_Splice_Site_p.Q88_splice|PLSCR2_uc003evv.2_Splice_Site_p.Q19_splice	NM_001199978	NP_001186907	Q9NRY7	PLS2_HUMAN	Homo sapiens phospholipid scramblase 2 (PLSCR2), transcript variant 1, mRNA.	19					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTTGAAATTACCTGACTTAAG	0.373													T	146177634	C	T	146177634	5	4	170	1	0	0	0	0	0	0	1	0	12187	521	18	2	640	2	PLSCR2	3	146177634	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08	37901393	146177634	51844796	28	11854											
NFXL1	152518	broad.mit.edu	37	chr4	47864932	47864932	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcagctgtggttattttTctaaaaataagaaagttgat	15	15	7	4	0	2	2	1	1	1	1	2	2	2	2	0	1	1	3	0	1	6	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:47864932T>C	uc010igh.3	-	19	2424	c.2247_splice	c.e19-1	p.R749_splice	NFXL1_uc003gxo.3_Splice_Site_p.R74_splice|NFXL1_uc003gxp.3_Splice_Site_p.R749_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.R749_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	749						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TGGTTATTTTTCTAAAAATAA	0.269													C	47864932	T	C	47864932	2	2	170	1	0	0	0	0	0	0	0	1	10464	1797	62	3		3	NFXL1	4	47864932	Silent	SNP	T	TCGA-19-5959-01A-11D-1696-08		47864932	143289344	29	11855											
TXK	7294	broad.mit.edu	37	chr4	48069656	48069656	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcattctgtttccggtcAccaggtttccgcaatctctg	5	15	9	12	2	3	0	1	0	2	0	6	0	5	0	3	3	0	4	3	3	1	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:48069656A>T	uc003gxx.4	-	14	1668	c.1582T>A	c.(1582-1584)Tga>Aga	p.*528R	TXK_uc010igj.3_Non-coding_Transcript|TXK_uc011bzj.2_Nonstop_Mutation_p.*215R	NM_003328	NP_003319	P42681	TXK_HUMAN	Homo sapiens TXK tyrosine kinase (TXK), mRNA.	0						cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						GTTTCCGGTCACCAGGTTTCC	0.483													T	48069656	A	T	48069656	4	4	170	1	0	0	0	0	0	0	0	0	16888	172	6	5	5	5	TXK	4	48069656	Nonstop_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	204724	48069656	143084620	30	11856											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68934340	68934340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggttaacttacttccAaaagcagtgagctgctgtga	10	12	10	9	0	0	2	0	2	0	0	1	2	1	2	2	1	5	4	2	1	4	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:68934340A>G	uc003hdt.1	-	6	800	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	LOC550112_uc003hdl.4_Intron|BC041902_uc011cak.2_Intron	NM_207407	NP_997290	Q6ZWK6	TM11F_HUMAN	Homo sapiens transmembrane protease, serine 11F (TMPRSS11F), mRNA.	251	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						ACTTACTTCCAAAAGCAGTGA	0.522													G	68934340	A	G	68934340	3	3	170	1	0	0	0	0	1	0	0	0	16343	130	5	3	581	3	TMPRSS11F	4	68934340	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	20864684	68934340	122219936	31	11857											
SCARB2	950	broad.mit.edu	37	chr4	77102252	77102255	+	Splice_Site	DEL	TCCC	TCCC	-																															tatttgctttgtttctgagtTccctaaaagaaagaaaaggg																								rs145870223		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr4:77102252_77102255delTCCC	uc003hju.2	-	3	632	c.276_splice	c.e3-1	p.R92_splice	SCARB2_uc011cbu.2_Intron	NM_005506	NP_005497	Q14108	SCRB2_HUMAN	Homo sapiens scavenger receptor class B, member 2 (SCARB2), transcript variant 1, mRNA.	92					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GTTTCTGAGTTCCCTAAAAGAAAG	0.319													-	77102255	TCCC	-	77102252	8	5	170	1	0	1	0	1	0	0	1	0	13974	1783	62	0	1198	0	SCARB2	4	77102252	Splice_Site	DEL	TCCC	TCGA-19-5959-01A-11D-1696-08	8167912	77102252	114052024	32	11858											
CDH18	1016	broad.mit.edu	37	chr5	19503219	19503219	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgatggtatgaataacCtaaagaaaagacaaactcta	19	8	7	7	0	1	4	0	2	1	2	1	4	1	4	1	1	2	2	1	1	9	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:19503219C>G	uc003jgd.3	-	11	2047	c.1513_splice	c.e11-1	p.V505_splice	CDH18_uc011cnm.2_Splice_Site_p.V505_splice|CDH18_uc003jgc.3_Splice_Site_p.V505_splice|CDH18_uc021xwu.1_Splice_Site_p.V505_splice	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	505	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TATGAATAACCTAAAGAAAAG	0.303													G	19503219	C	G	19503219	5	3	170	1	0	0	0	0	0	0	1	0	3133	695	24	4	872	4	CDH18	5	19503219	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08		19503219	161412041	33	11859											
CDH9	1007	broad.mit.edu	37	chr5	26881626	26881626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtatcttcttccccgccGccttcatcgttgtaggtcac	4	14	9	14	3	4	0	2	0	2	0	6	0	5	0	4	2	0	3	4	2	2	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:26881626G>A	uc003jgs.1	-	11	2158	c.1989C>T	c.(1987-1989)ggC>ggT	p.G663G	CDH9_uc011cnv.1_Silent_p.G256G	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	663					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTTCCCCGCCGCCTTCATCGT	0.438													A	26881626	G	A	26881626	2	1	170	1	0	0	0	0	0	0	0	1	3147	1074	38	1		1	CDH9	5	26881626	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	7378407	26881626	154033634	34	11860											
UGT3A2	167127	broad.mit.edu	37	chr5	36035988	36035988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgccccctgtctggaggaCgtggtcaatccagcccacca	7	6	11	17	3	2	0	1	0	1	0	3	2	3	2	5	3	1	0	5	3	1	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:36035988C>T	uc003jjz.2	-	6	1516	c.1384G>A	c.(1384-1386)Gtc>Atc	p.V462I	UGT3A2_uc011cos.2_Missense_Mutation_p.V428I|UGT3A2_uc011cot.2_Missense_Mutation_p.V160I	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	462						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GTCTGGAGGACGTGGTCAATC	0.617													T	36035988	C	T	36035988	3	4	170	1	0	0	0	0	1	0	0	0	17066	536	19	1	191	1	UGT3A2	5	36035988	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	9154362	36035988	144879272	35	11861											
PCDHAC2	56141	broad.mit.edu	37	chr5	140215418	140215418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggcgggggacgcggacGcgcagaagaacgcgctggtg	7	4	20	10	8	0	2	0	0	0	2	1	4	0	4	0	5	1	2	0	5	2	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:140215418G>A	uc003lhq.2	+	0	1450	c.1450G>A	c.(1450-1452)Gcg>Acg	p.A484T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.A484T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	498	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGCGGACGCGCAGAAGAA	0.677													A	140215418	G	A	140215418	3	1	170	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140215418	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	104179430	140215418	40699842	36	11862											
DRD1	1812	broad.mit.edu	37	chr5	174869392	174869392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtctggcaattcttggcGtggactgctgccctctccaa	5	12	12	12	1	3	0	0	0	3	0	4	1	3	1	2	4	2	2	2	4	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr5:174869392G>A	uc003mcz.3	-	1	1656	c.711C>T	c.(709-711)caC>caT	p.H237H	DRD1_uc021yia.1_Silent_p.H237H	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	237					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	AATTCTTGGCGTGGACTGCTG	0.483													A	174869392	G	A	174869392	2	1	170	1	0	0	0	0	0	0	0	1	4795	1136	40	1		1	DRD1	5	174869392	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	34653974	174869392	6045868	37	11863											
EEF1A1	1915	broad.mit.edu	37	chr6	74229088	74229088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtaatcatgtttttgAtaaagtctctgtgtcctggg	7	17	9	8	0	2	1	1	1	1	0	5	1	4	1	2	1	0	2	2	1	3	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:74229088A>G	uc003phi.3	-	1	1288	c.296T>C	c.(295-297)aTc>aCc	p.I99T	EEF1A1_uc003phj.3_Missense_Mutation_p.I99T|EEF1A1_uc021zbs.1_Non-coding_Transcript|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	99						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATGTTTTTGATAAAGTCTCT	0.408											OREG0003890	type=REGULATORY REGION|Gene=LOC477388|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	74229088	A	G	74229088	3	3	170	1	0	0	0	0	1	0	0	0	4962	333	12	3	1116	3	EEF1A1	6	74229088	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08		74229088	96885979	38	11864											
BACH2	60468	broad.mit.edu	37	chr6	90660866	90660866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggccccagctggggccgtgGgggtaggggcagggctgggc	3	4	23	11	2	0	0	0	0	0	0	0	0	0	0	3	9	1	4	3	9	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:90660866G>A	uc011eab.2	-	6	1833	c.959C>T	c.(958-960)cCc>cTc	p.P320L	BACH2_uc003pnw.3_Missense_Mutation_p.P320L|BACH2_uc010kch.3_Missense_Mutation_p.P320L	NM_021813	NP_068585	Q9BYV9	BACH2_HUMAN	Homo sapiens BTB and CNC homology 1, basic leucine zipper transcription factor 2 (BACH2), transcript variant 1, mRNA.	320						nucleus	protein dimerization activity|sequence-specific DNA binding	p.P320S(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGGGGCCGTGGGGGTAGGGGC	0.637													A	90660866	G	A	90660866	3	1	170	1	0	0	0	0	1	0	0	0	1289	1232	43	2	1578	2	BACH2	6	90660866	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	16431778	90660866	80454201	39	11865											
FAM184A	79632	broad.mit.edu	37	chr6	119301415	119301415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaattcttcaagctcttgcGtaagccgctgtcgttcttgc	6	15	8	12	3	4	0	1	0	3	0	5	0	4	0	1	0	4	4	1	0	3	7			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr6:119301415G>A	uc003pyj.3	-	9	2537	c.2189C>T	c.(2188-2190)aCg>aTg	p.T730M	FAM184A_uc003pyk.4_Missense_Mutation_p.T610M|FAM184A_uc003pyl.4_Missense_Mutation_p.T610M	NM_024581	NP_078857	Q8NB25	F184A_HUMAN	Homo sapiens family with sequence similarity 184, member A (FAM184A), transcript variant 1, mRNA.	730								p.T730M(2)|p.T730T(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						AAGCTCTTGCGTAAGCCGCTG	0.423													A	119301415	G	A	119301415	3	1	170	1	0	0	0	0	1	0	0	0	5557	1145	40	1	1269	1	FAM184A	6	119301415	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	28640549	119301415	51813652	40	11866											
TTYH3	80727	broad.mit.edu	37	chr7	2687687	2687687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctccaagggcatcctggtgGggtgagtctgggggtgtcgg	4	9	20	8	1	1	1	0	1	1	0	4	1	3	1	2	7	0	2	2	7	1	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:2687687G>T	uc003smp.3	+	5	909	c.722_splice	c.e5+1	p.G241_splice	TTYH3_uc010ksn.3_Intron|TTYH3_uc003smq.3_Splice_Site_p.G70_splice	NM_025250	NP_079526	Q9C0H2	TTYH3_HUMAN	Homo sapiens tweety homolog 3 (Drosophila) (TTYH3), mRNA.	241						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CATCCTGGTGGGGTGAGTCTG	0.662													T	2687687	G	T	2687687	3	4	170	1	0	0	0	0	1	0	0	0	16843	1246	43	4	739	4	TTYH3	7	2687687	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		2687687	156450976	41	11867											
AHR	196	broad.mit.edu	37	chr7	17379818	17379818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagatgcagtacaatcCagtactgccaggccaacagg	12	6	12	11	0	1	1	1	0	0	1	2	1	2	1	3	3	5	3	3	3	4	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:17379818C>T	uc011jxz.1	+	9	2982	c.2369C>T	c.(2368-2370)cCa>cTa	p.P790L		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	790					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CAGTACAATCCAGTACTGCCA	0.443													T	17379818	C	T	17379818	3	4	170	1	0	0	0	0	1	0	0	0	416	594	21	2	2407	2	AHR	7	17379818	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	14692131	17379818	141758845	42	11868											
RELN	5649	broad.mit.edu	37	chr7	103205876	103205876	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgccattgttcagagAatactggagctgtacactgt	9	13	10	9	0	1	1	1	0	0	1	2	3	2	2	2	1	4	3	2	1	3	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103205876A>G	uc022ajr.1	-	33	5219	c.5059T>C	c.(5059-5061)Tct>Cct	p.S1687P	RELN_uc022ajq.1_Missense_Mutation_p.S1687P|RELN_uc010liz.3_Missense_Mutation_p.S1687P	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1687					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S1687Y(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTGTTCAGAGAATACTGGAGC	0.473													G	103205876	A	G	103205876	3	3	170	1	0	0	0	0	1	0	0	0	13308	246	9	3	5451	3	RELN	7	103205876	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	85826058	103205876	55932787	43	11869											
RELN	5649	broad.mit.edu	37	chr7	103338351	103338351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcctgtgtccactgggtcGagactatcttctaaaacgac	9	12	9	11	2	2	1	0	0	2	1	4	3	3	1	2	1	2	0	2	1	3	4	rs142192165		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:103338351G>A	uc022ajr.1	-	9	1252	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	RELN_uc022ajq.1_Silent_p.L364L|RELN_uc010liz.3_Silent_p.L364L	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	364					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.S363G(1)|p.L364I(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CCACTGGGTCGAGACTATCTT	0.418													A	103338351	G	A	103338351	2	1	170	1	0	0	0	0	0	0	0	1	13308	1045	37	1		1	RELN	7	103338351	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	132475	103338351	55800312	44	11870											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825899	146825899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacattactgatcttgccAgaaggaagaaattagagccc	15	9	8	9	0	2	4	1	1	1	3	2	5	2	5	2	1	4	0	2	1	6	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:146825899A>G	uc003weu.2	+	6	1570	c.1054A>G	c.(1054-1056)Aga>Gga	p.R352G		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	352	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TGATCTTGCCAGAAGGAAGAA	0.388										HNSCC(39;0.1)			G	146825899	A	G	146825899	3	3	170	1	0	0	0	0	1	0	0	0	3678	180	7	3	1080	3	CNTNAP2	7	146825899	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	43487548	146825899	12312764	45	11871											
REPIN1	29803	broad.mit.edu	37	chr7	150069842	150069842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagtccaacctggtgtcGcaccggcgcatccacacggg	9	5	12	15	4	0	1	0	0	0	1	3	1	2	1	4	3	1	2	4	3	2	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr7:150069842G>A	uc022apt.1	-	0					REPIN1_uc003whd.2_Silent_p.S493S|REPIN1_uc010lpq.1_Silent_p.S504S|REPIN1_uc010lpr.1_Silent_p.S561S|REPIN1_uc003whc.2_Silent_p.S504S|REPIN1_uc003whe.2_Silent_p.S504S			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).						DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ACCTGGTGTCGCACCGGCGCA	0.667													A	150069842	G	A	150069842	2	1	170	1	0	0	0	0	0	0	0	1	13315	1074	38	1		1	REPIN1	7	150069842	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	3243943	150069842	9068821	46	11872											
TEX15	56154	broad.mit.edu	37	chr8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacattcattaacctgtcGtttgtactttaagaatacat	12	17	4	8	1	2	1	2	0	0	1	3	1	2	1	1	0	3	2	1	0	5	8			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:30701172G>A	uc003xil.3	-	0	5362	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1788										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343													A	30701172	G	A	30701172	4	1	170	1	0	0	0	0	0	1	0	0	15879	1153	40	1	3023	1	TEX15	8	30701172	Nonsense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		30701172	115662850	47	11873											
DPY19L4	286148	broad.mit.edu	37	chr8	95792643	95792643	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcagcttatggaaagaGgtaaaaaaattagattttta	16	13	9	3	0	1	2	1	0	1	2	2	3	1	3	0	3	1	2	0	3	8	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:95792643G>A	uc003ygx.2	+	15	1756	c.1632_splice	c.e15+1	p.E544_splice		NM_181787	NP_861452	Q7Z388	D19L4_HUMAN	Homo sapiens dpy-19-like 4 (C. elegans) (DPY19L4), mRNA.	544						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TATGGAAAGAGGtaaaaaaat	0.299													A	95792643	G	A	95792643	2	1	170	1	0	0	0	0	0	0	0	1	4782	1014	35	2		2	DPY19L4	8	95792643	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	65091471	95792643	50571379	48	11874											
HAS2	3037	broad.mit.edu	37	chr8	122641443	122641443	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaggcaccatacagtccAaaagagaaatagtaattatc	21	7	6	7	0	0	1	0	0	0	1	2	2	1	1	2	1	1	2	2	1	9	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr8:122641443A>G	uc003yph.2	-	1	676	c.138T>C	c.(136-138)ttT>ttC	p.F46F		NM_005328	NP_005319	Q92819	HAS2_HUMAN	Homo sapiens hyaluronan synthase 2 (HAS2), mRNA.	46						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			CATACAGTCCAAAAGAGAAAT	0.418													G	122641443	A	G	122641443	2	3	170	1	0	0	0	0	0	0	0	1	7017	127	5	3		3	HAS2	8	122641443	Silent	SNP	A	TCGA-19-5959-01A-11D-1696-08	26848800	122641443	23722579	49	11875											
FAM75C1	441452	broad.mit.edu	37	chr9	90536465	90536465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaaggttctgggggCgacctctgaggagtcagaaa	10	6	16	9	1	3	2	1	1	2	1	3	5	3	4	2	5	0	1	2	5	2	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:90536465C>T	uc010mqi.3	+	3	1672	c.1643C>T	c.(1642-1644)gCg>gTg	p.A548V	FAM75C1_uc004apq.4_Missense_Mutation_p.A531V	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GTTCTGGGGGCGACCTCTGAG	0.512													T	90536465	C	T	90536465	3	4	170	1	0	0	0	0	1	0	0	0	5673	768	27	1	1657	1	FAM75C1	9	90536465	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		90536465	50676966	50	11876											
CTSL2	1515	broad.mit.edu	37	chr9	99799549	99799549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgattcttcactggCgtcacgtagcctttctttct	5	16	6	14	2	6	1	3	1	3	0	6	1	6	1	2	1	1	1	2	1	1	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:99799549C>T	uc010msi.3	-	3	588	c.381G>A	c.(379-381)acG>acA	p.T127T	CTSL2_uc004awt.3_Silent_p.T127T|CTSL2_uc004awu.3_Silent_p.T72T|CTSL2_uc010msj.2_Silent_p.T72T|CTSL2_uc010msk.3_Silent_p.T72T	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	127						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				TCTTCACTGGCGTCACGTAGC	0.483													T	99799549	C	T	99799549	2	4	170	1	0	0	0	0	0	0	0	1	4072	755	27	1		1	CTSL2	9	99799549	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	9263084	99799549	41413882	51	11877											
CACNA1B	774	broad.mit.edu	37	chr9	140881238	140881238	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttttcctcaggttcAacttccaggatgagactccc	7	14	7	13	0	2	1	2	1	0	1	6	3	6	2	4	2	1	2	4	2	1	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr9:140881238A>G	uc004cog.3	+	14	2051	c.1906A>G	c.(1906-1908)Aac>Gac	p.N636D	CACNA1B_uc022bqn.1_Missense_Mutation_p.N636D|CACNA1B_uc011mfd.2_Missense_Mutation_p.N238D	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	636					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCTCAGGTTCAACTTCCAGGA	0.602													G	140881238	A	G	140881238	3	3	170	1	0	0	0	0	1	0	0	0	2565	130	5	3	1964	3	CACNA1B	9	140881238	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	41081689	140881238	332193	52	11878											
C10orf53	282966	broad.mit.edu	37	chr10	50901822	50901822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctttccttcccagctGtgttggccatagatggacat	6	16	8	11	0	1	1	0	0	1	1	3	2	3	2	3	2	1	2	3	2	1	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:50901822G>T	uc001jid.1	+	1	160	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L	CHAT_uc010qgs.1_Silent_p.L542L|C10orf53_uc001jib.3_Missense_Mutation_p.V34L|C10orf53_uc001jic.1_Missense_Mutation_p.V34L	NM_182554	NP_872360	Q8N6V4	CJ053_HUMAN	Homo sapiens chromosome 10 open reading frame 53 (C10orf53), transcript variant 1, mRNA.	34										endometrium(1)|lung(6)	7		all_neural(218;0.107)				CTTCCCAGCTGTGTTGGCCAT	0.468													T	50901822	G	T	50901822	3	4	170	1	0	0	0	0	1	0	0	0	1617	1377	48	4	106	4	C10orf53	10	50901822	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		50901822	84632925	53	11879											
STOX1	219736	broad.mit.edu	37	chr10	70644150	70644150	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattacaaatacaaccaccCaggaaaataagagaatgctg	19	7	6	9	0	1	1	1	0	0	1	1	3	1	2	2	1	4	1	2	1	8	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:70644150C>T	uc001jos.2	+	2	685	c.598C>T	c.(598-600)Cag>Tag	p.Q200*	STOX1_uc001joq.3_Nonsense_Mutation_p.Q90*|STOX1_uc001jor.3_Nonsense_Mutation_p.Q200*|STOX1_uc009xpy.3_Intron|STOX1_uc021prw.1_Nonsense_Mutation_p.Q90*	NM_001130161	NP_689922	Q6ZVD7	STOX1_HUMAN	Homo sapiens storkhead box 1 (STOX1), transcript variant 2, mRNA.	200						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TACAACCACCCAGGAAAATAA	0.443													T	70644150	C	T	70644150	4	4	170	1	0	0	0	0	0	1	0	0	15415	595	21	2	608	2	STOX1	10	70644150	Nonsense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	19742328	70644150	64890597	54	11880											
PTEN	5728	broad.mit.edu	37	chr10	89692810	89692810	+	Frame_Shift_Del	DEL	A	A	-																															gaccataacccaccacagctAgaacttatcaaacccttttg																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr10:89692810delA	uc001kfb.3	+	4	1326	c.294delA	c.(292-294)ctafs	p.L98fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	98	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CACCACAGCTAGAACTTATCA	0.358		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89692810	A	-	89692810	7	5	170	1	0	1	0	1	0	0	0	0	12823	407	15	0	312	0	PTEN	10	89692810	Frame_Shift_Del	DEL	A	TCGA-19-5959-01A-11D-1696-08	19048660	89692810	45841937	55	11881											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643251	1643251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccccacagccagagcCacagcccccacagccggagc	11	0	9	21	1	0	1	0	0	0	1	0	2	0	2	7	1	6	0	7	1	0	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:1643251C>T	uc009ycy.1	-	0	118	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	MOB2_uc001ltq.2_Intron	NM_001012709	NP_001012727	Q6L8H1	KRA54_HUMAN	Homo sapiens keratin associated protein 5-4 (KRTAP5-4), mRNA.	105						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cagccagagccacagccccca	0.692													T	1643251	C	T	1643251	3	4	170	1	0	0	0	0	1	0	0	0	8622	594	21	2	617	2	KRTAP5-4	11	1643251	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		1643251	133363265	56	11882											
SLC6A5	9152	broad.mit.edu	37	chr11	20636272	20636272	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatacagatcaagaactcgActttctgcatgaccgcttat	14	11	6	10	2	2	3	1	1	1	2	3	4	2	3	1	0	3	2	1	0	5	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:20636272A>T	uc001mqd.3	+	5	1306	c.1033A>T	c.(1033-1035)Act>Tct	p.T345S	SLC6A5_uc009yic.3_Missense_Mutation_p.T110S	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	345					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity	p.S344S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CAAGAACTCGACTTTCTGCAT	0.403													T	20636272	A	T	20636272	3	4	170	1	0	0	0	0	1	0	0	0	14781	275	10	5	1055	5	SLC6A5	11	20636272	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	18993021	20636272	114370244	57	11883											
OR8H3	390152	broad.mit.edu	37	chr11	55890213	55890213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcaatggcctatgatcGctatgcagcgatctgcagtc	8	11	9	13	2	2	1	1	1	1	0	5	2	3	1	2	1	3	3	2	1	3	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:55890213G>A	uc001nii.1	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					GCCTATGATCGCTATGCAGCG	0.468													A	55890213	G	A	55890213	3	1	170	1	0	0	0	0	1	0	0	0	11315	1087	38	1	367	1	OR8H3	11	55890213	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	35253941	55890213	79116303	58	11884											
OR5A1	219982	broad.mit.edu	37	chr11	59210760	59210760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcctgggcatctatcttaCcaccctggcctggaacctgg	6	11	9	15	0	2	0	0	0	2	0	3	1	3	1	5	4	2	1	5	4	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:59210760C>T	uc001nnx.1	+	0	119	c.119C>T	c.(118-120)aCc>aTc	p.T40I		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCTATCTTACCACCCTGGCC	0.502													T	59210760	C	T	59210760	3	4	170	1	0	0	0	0	1	0	0	0	11215	507	18	2	121	2	OR5A1	11	59210760	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	3320547	59210760	75795756	59	11885											
OVOL1	5017	broad.mit.edu	37	chr11	65561705	65561705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagaccatggcttcctgCgcaccaagatgaaggtaatg	12	7	12	10	1	0	3	0	1	0	2	1	4	1	3	3	2	1	4	3	2	3	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:65561705C>T	uc001ofp.3	+	1	644	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	OVOL1_uc001ofq.3_Missense_Mutation_p.R40C	NM_004561	NP_004552	O14753	OVOL1_HUMAN	Homo sapiens ovo-like 1(Drosophila) (OVOL1), mRNA.	102					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	6				READ - Rectum adenocarcinoma(159;0.17)		TGGCTTCCTGCGCACCAAGAT	0.612													T	65561705	C	T	65561705	3	4	170	1	0	0	0	0	1	0	0	0	11402	768	27	1	310	1	OVOL1	11	65561705	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	6350945	65561705	69444811	60	11886											
KRTAP5-8	57830	broad.mit.edu	37	chr11	71249153	71249153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccggctgtgggggctgcGgctctggctgtgggggatgt	1	10	21	9	2	1	0	0	0	1	0	2	1	2	1	1	7	1	5	1	7	0	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:71249153G>A	uc001oqr.1	+	0	83	c.52G>A	c.(52-54)Ggc>Agc	p.G18S		NM_021046	NP_066384	O75690	KRA58_HUMAN	Homo sapiens keratin associated protein 5-8 (KRTAP5-8), mRNA.	18						extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|lung(2)|skin(1)|stomach(1)	6						TGGGGGCTGCGGCTCTGGCTG	0.652													A	71249153	G	A	71249153	3	1	170	1	0	0	0	0	1	0	0	0	8626	1116	39	1	54	1	KRTAP5-8	11	71249153	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5687448	71249153	63757363	61	11887											
ARRB1	408	broad.mit.edu	37	chr11	74979943	74979943	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctcaccttcccgatgCgggggttcctctttgggctt	2	15	11	13	2	3	0	1	0	2	0	5	1	5	0	3	3	2	3	3	3	0	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr11:74979943C>T	uc001owe.2	-	13	1307	c.1083G>A	c.(1081-1083)ccG>ccA	p.P361P	ARRB1_uc001owf.2_Silent_p.P353P	NM_004041	NP_004032	P49407	ARRB1_HUMAN	Homo sapiens arrestin, beta 1 (ARRB1), transcript variant 1, mRNA.	361	Interaction with TRAF6.				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTTCCCGATGCGGGGGTTCCT	0.622													T	74979943	C	T	74979943	2	4	170	1	0	0	0	0	0	0	0	1	985	755	27	1		1	ARRB1	11	74979943	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	3730790	74979943	60026573	62	11888											
GRIN2B	2904	broad.mit.edu	37	chr12	13716218	13716218	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaggcttacgctgcgcggGgccagggcggcttcttcctt	3	11	14	13	4	2	0	1	0	1	0	3	0	3	0	2	5	2	3	2	5	1	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:13716218G>C	uc001rbt.2	-	12	4133	c.3954C>G	c.(3952-3954)gcC>gcG	p.A1318A		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1318					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.L1317M(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGCTGCGCGGGGCCAGGGCGG	0.587													C	13716218	G	C	13716218	2	2	170	1	0	0	0	0	0	0	0	1	6835	1219	43	4		4	GRIN2B	12	13716218	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		13716218	120135677	63	11889											
OAS1	4938	broad.mit.edu	37	chr12	113346549	113346549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgctggggcaacccccGtgcgctcagcttcgtactga	6	8	11	16	4	1	1	1	1	0	0	3	1	2	1	3	2	4	5	3	2	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr12:113346549G>A	uc001tuc.3	+	1	495	c.389G>A	c.(388-390)cGt>cAt	p.R130H	OAS1_uc010syn.2_Missense_Mutation_p.R129H|OAS1_uc010syo.2_Missense_Mutation_p.R129H|OAS1_uc001tub.3_Missense_Mutation_p.R130H|OAS1_uc001tud.3_Missense_Mutation_p.R130H|OAS1_uc009zwf.3_Missense_Mutation_p.R129H	NM_001032409	NP_001027581	P00973	OAS1_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 1, 40/46kDa (OAS1), transcript variant 3, mRNA.	130	Necessary for binding to dsRNA.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding	p.R130L(4)		cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						GGCAACCCCCGTGCGCTCAGC	0.577													A	113346549	G	A	113346549	3	1	170	1	0	0	0	0	1	0	0	0	10875	1145	40	1	395	1	OAS1	12	113346549	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	99630331	113346549	20505346	64	11890											
OR4K15	81127	broad.mit.edu	37	chr14	20443959	20443959	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacctgtcatttatagaCgtatgtgttgcctcttttgc	8	16	8	9	1	2	1	1	0	1	1	2	1	2	1	2	0	3	3	2	0	4	7			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:20443959C>T	uc010tkx.2	+	0	282	c.282C>T	c.(280-282)gaC>gaT	p.D94D		NM_001005486	NP_001005486	Q8NH41	OR4KF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 15 (OR4K15), mRNA.	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D94D(4)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATTTATAGACGTATGTGTTG	0.453													T	20443959	C	T	20443959	2	4	170	1	0	0	0	0	0	0	0	1	11146	535	19	1		1	OR4K15	14	20443959	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08		20443959	86905581	65	11891											
CHD8	57680	broad.mit.edu	37	chr14	21871175	21871175	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagacaatgaattcctttaCctgcaggtcattttgtggat	11	15	8	7	0	1	2	1	1	0	1	2	3	2	3	2	2	2	1	2	2	4	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:21871175C>T	uc001war.2	-	17	3779	c.3714_splice	c.e17+1	p.Q1238_splice	CHD8_uc001was.2_Splice_Site_p.Q959_splice|CHD8_uc001wav.1_Splice_Site_p.Q401_splice	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1238	Helicase C-terminal.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATTCCTTTACCTGCAGGTCA	0.403													T	21871175	C	T	21871175	5	4	170	1	0	0	0	0	0	0	1	0	3361	521	18	2	4114	2	CHD8	14	21871175	Splice_Site	SNP	C	TCGA-19-5959-01A-11D-1696-08	1427216	21871175	85478365	66	11892											
ACTN1	87	broad.mit.edu	37	chr14	69356891	69356891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggatggaggccttctgcCggaacttctctgccaggtgg	5	10	15	11	2	2	0	0	0	2	0	3	3	2	3	3	6	3	0	3	6	1	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr14:69356891C>T	uc001xkl.3	-	10	1509	c.1199G>A	c.(1198-1200)cGg>cAg	p.R400Q	ACTN1_uc001xkk.3_5'Flank|ACTN1_uc010ttb.2_Missense_Mutation_p.R335Q|ACTN1_uc001xkm.3_Missense_Mutation_p.R400Q|ACTN1_uc001xkn.3_Missense_Mutation_p.R400Q|ACTN1_uc001xko.1_Missense_Mutation_p.R335Q|ACTN1_uc010ttd.1_Missense_Mutation_p.R379Q	NM_001102	NP_001093	P12814	ACTN1_HUMAN	Homo sapiens actinin, alpha 1 (ACTN1), transcript variant 2, mRNA.	400	Interaction with DDN.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		GGCCTTCTGCCGGAACTTCTC	0.647													T	69356891	C	T	69356891	3	4	170	1	0	0	0	0	1	0	0	0	204	652	23	1	1593	1	ACTN1	14	69356891	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	47485716	69356891	37992649	67	11893											
ITGA11	22801	broad.mit.edu	37	chr15	68643617	68643617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaccgcatatcttgttacGttgtctctttcgctttgctg	4	17	8	12	3	2	0	0	0	2	0	4	0	2	0	2	0	2	5	2	0	2	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:68643617G>A	uc010bib.3	-	7	960	c.873C>T	c.(871-873)aaC>aaT	p.N291N	ITGA11_uc002ari.3_Silent_p.N291N	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	291	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ATCTTGTTACGTTGTCTCTTT	0.552													A	68643617	G	A	68643617	2	1	170	1	0	0	0	0	0	0	0	1	7932	1136	40	1		1	ITGA11	15	68643617	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08		68643617	33887775	68	11894											
CSPG4	1464	broad.mit.edu	37	chr15	75980091	75980091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgcccgtcggacacctgCagctggatccagccacggtc	6	8	12	15	3	0	0	0	0	0	0	3	2	1	2	4	3	4	3	4	3	0	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:75980091C>T	uc002baw.3	-	2	3408	c.3315G>A	c.(3313-3315)ctG>ctA	p.L1105L		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	1105	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CGGACACCTGCAGCTGGATCC	0.657													T	75980091	C	T	75980091	2	4	170	1	0	0	0	0	0	0	0	1	3993	697	25	2		2	CSPG4	15	75980091	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	7336474	75980091	26551301	69	11895											
C15orf27	123591	broad.mit.edu	37	chr15	76430102	76430102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctcccaacaagtagaCgaagaaaccaagagcattgc	17	6	7	11	1	2	3	1	0	1	3	3	4	2	3	2	0	4	2	2	0	6	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:76430102C>T	uc002bbq.3	+	2	248	c.93C>T	c.(91-93)gaC>gaT	p.D31D	C15orf27_uc010bkp.3_5'UTR|C15orf27_uc002bbr.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	31						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AACAAGTAGACGAAGAAACCA	0.537													T	76430102	C	T	76430102	2	4	170	1	0	0	0	0	0	0	0	1	1801	535	19	1		1	C15orf27	15	76430102	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	450011	76430102	26101290	70	11896											
C15orf26	161502	broad.mit.edu	37	chr15	81429012	81429012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtcccatctgaaagaCgaattagaggtaccctgtgg	12	10	10	9	1	2	3	1	1	1	2	3	4	3	3	2	2	1	1	2	2	4	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:81429012C>T	uc002bgb.3	+	2	342	c.315C>T	c.(313-315)gaC>gaT	p.D105D	C15orf26_uc010blp.1_Silent_p.D80D	NM_173528	NP_775799	Q6P656	CO026_HUMAN	Homo sapiens chromosome 15 open reading frame 26 (C15orf26), mRNA.	105										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						ATCTGAAAGACGAATTAGAGG	0.448													T	81429012	C	T	81429012	2	4	170	1	0	0	0	0	0	0	0	1	1800	535	19	1		1	C15orf26	15	81429012	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	4998910	81429012	21102380	71	11897											
HAPLN3	145864	broad.mit.edu	37	chr15	89430480	89430480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgttgtagaagggcagtCcgtaggagccgggcagcagg	9	5	18	9	3	0	1	0	0	0	1	1	2	1	2	3	4	3	6	3	4	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr15:89430480C>A	uc002bnd.3	-	2	317	c.236G>T	c.(235-237)gGa>gTa	p.G79V	HAPLN3_uc002bnc.3_Missense_Mutation_p.G17V|HAPLN3_uc002bne.3_Non-coding_Transcript	NM_178232	NP_839946	Q96S86	HPLN3_HUMAN	Homo sapiens hyaluronan and proteoglycan link protein 3 (HAPLN3), mRNA.	17	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)	17	Lung NSC(78;0.0392)|all_lung(78;0.077)					GAAGGGCAGTCCGTAGGAGCC	0.642													A	89430480	C	A	89430480	3	1	170	1	0	0	0	0	1	0	0	0	7011	855	30	4	1048	4	HAPLN3	15	89430480	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	8001468	89430480	13100912	72	11898											
GNPTG	84572	broad.mit.edu	37	chr16	1412483	1412483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagaggccctgcagcGgcagtgggaccaggtagagc	8	4	16	13	1	0	2	0	0	0	2	0	3	0	3	4	4	4	3	4	4	1	1	rs139997459		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:1412483G>A	uc002clm.3	+	7	624	c.557G>A	c.(556-558)cGg>cAg	p.R186Q		NM_032520	NP_115909	Q9UJJ9	GNPTG_HUMAN	Homo sapiens N-acetylglucosamine-1-phosphate transferase, gamma subunit (GNPTG), mRNA.	186						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				GCCCTGCAGCGGCAGTGGGAC	0.682													A	1412483	G	A	1412483	3	1	170	1	0	0	0	0	1	0	0	0	6602	1116	39	1	587	1	GNPTG	16	1412483	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		1412483	88942270	73	11899											
TEKT5	146279	broad.mit.edu	37	chr16	10788509	10788509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggcaggatggtgggCggccgcagggtactggtgct	5	8	21	7	2	0	0	0	0	0	0	0	1	0	1	1	7	2	4	1	7	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:10788509C>T	uc002czz.1	-	0	294	c.222G>A	c.(220-222)ccG>ccA	p.P74P		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	74					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GGATGGTGGGCGGCCGCAGGG	0.642													T	10788509	C	T	10788509	2	4	170	1	0	0	0	0	0	0	0	1	15856	755	27	1		1	TEKT5	16	10788509	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	9376026	10788509	79566244	74	11900											
ITGAM	3684	broad.mit.edu	37	chr16	31336846	31336846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcacagcgatcctggcGcctggcctgtgagtctgcct	4	9	13	15	3	2	1	1	1	1	0	3	2	3	1	4	2	2	1	4	2	0	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:31336846G>A	uc002ebr.3	+	20	2632	c.2534G>A	c.(2533-2535)cGc>cAc	p.R845H	ITGAM_uc002ebq.3_Missense_Mutation_p.R844H|ITGAM_uc010can.3_Missense_Mutation_p.R250H|ITGAM_uc002ebs.1_Missense_Mutation_p.R250H	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	844					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	p.R844H(2)		endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CGATCCTGGCGCCTGGCCTGT	0.602													A	31336846	G	A	31336846	3	1	170	1	0	0	0	0	1	0	0	0	7945	1087	38	1	2616	1	ITGAM	16	31336846	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	20548337	31336846	59017907	75	11901											
DPEP3	64180	broad.mit.edu	37	chr16	68010069	68010069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcttcctcgctccagctaCgactcagcaactcctctatc	7	11	5	18	2	3	0	1	0	2	0	8	1	6	0	3	0	4	4	3	0	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:68010069C>T	uc002evc.4	-	8	1326	c.1232G>A	c.(1231-1233)cGt>cAt	p.R411H	DPEP3_uc010cex.3_Missense_Mutation_p.R410H	NM_022357	NP_071752	Q9H4B8	DPEP3_HUMAN	Homo sapiens dipeptidase 3 (DPEP3), transcript variant 1, mRNA.	386					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GCTCCAGCTACGACTCAGCAA	0.577													T	68010069	C	T	68010069	3	4	170	1	0	0	0	0	1	0	0	0	4754	536	19	1	317	1	DPEP3	16	68010069	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	36673223	68010069	22344684	76	11902											
CNTNAP4	85445	broad.mit.edu	37	chr16	76482757	76482757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcagtgctcatccagcGtttgggcaaacaagtcaact	11	10	9	11	1	3	0	3	0	0	0	4	0	4	0	1	1	4	4	1	1	3	2	rs148969138		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:76482757G>A	uc002fex.1	+	4	984	c.845G>A	c.(844-846)cGt>cAt	p.R282H	CNTNAP4_uc002feu.1_Missense_Mutation_p.R278H|CNTNAP4_uc002fev.1_Missense_Mutation_p.R191H|CNTNAP4_uc010chb.1_Missense_Mutation_p.R254H|CNTNAP4_uc002few.2_Missense_Mutation_p.R254H	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	279	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CTCATCCAGCGTTTGGGCAAA	0.483													A	76482757	G	A	76482757	3	1	170	1	0	0	0	0	1	0	0	0	3680	1145	40	1	871	1	CNTNAP4	16	76482757	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	8472688	76482757	13871996	77	11903											
SDR42E1	93517	broad.mit.edu	37	chr16	82033639	82033639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgattgagttgctcccGccctgacataccataagagg	9	11	10	11	2	0	3	0	2	0	1	2	4	1	3	3	1	2	3	3	1	2	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:82033639G>A	uc002fgu.3	-	2	387	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W		NM_145168	NP_660151	Q8WUS8	D42E1_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 42E, member 1 (SDR42E1), mRNA.	87					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding	p.R87R(2)		NS(2)|endometrium(1)|lung(4)|skin(3)	10						AGTTGCTCCCGCCCTGACATA	0.498													A	82033639	G	A	82033639	3	1	170	1	0	0	0	0	1	0	0	0	14066	1086	38	1	926	1	SDR42E1	16	82033639	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	5550882	82033639	8321114	78	11904											
CDH13	1012	broad.mit.edu	37	chr16	83704506	83704506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctacaccatcatcaacGgaaaccccgggcagagcttt	11	7	8	15	2	2	1	2	0	0	1	2	2	2	2	4	2	5	2	4	2	3	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr16:83704506G>A	uc010vns.2	+	9	1618	c.1354G>A	c.(1354-1356)Gga>Aga	p.G452R	CDH13_uc002fgx.3_Missense_Mutation_p.G405R|CDH13_uc010vnt.2_Missense_Mutation_p.G151R|CDH13_uc010vnu.2_Missense_Mutation_p.G366R	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	405	Cadherin 3.				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)		CATCATCAACGGAAACCCCGG	0.498													A	83704506	G	A	83704506	3	1	170	1	0	0	0	0	1	0	0	0	3129	1117	39	1	1247	1	CDH13	16	83704506	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	1670867	83704506	6650247	79	11905											
TNFAIP1	7126	broad.mit.edu	37	chr17	26666722	26666722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaaggccatgttcagtGggcgcatggaggtgctgacc	7	9	15	10	1	2	1	2	1	0	0	2	2	2	2	2	4	2	4	2	4	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:26666722G>A	uc002hax.2	+	1	194	c.175G>A	c.(175-177)Ggg>Agg	p.G59R	TNFAIP1_uc002hay.3_Missense_Mutation_p.G59R|TNFAIP1_uc010waf.2_Intron	NM_021137	NP_066960	Q13829	BACD2_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 1 (endothelial) (TNFAIP1), mRNA.	59	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CATGTTCAGTGGGCGCATGGA	0.617													A	26666722	G	A	26666722	3	1	170	1	0	0	0	0	1	0	0	0	16372	1348	47	2	177	2	TNFAIP1	17	26666722	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		26666722	54528488	80	11906											
KRT32	3882	broad.mit.edu	37	chr17	39619277	39619277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcgggcctcactctccGtcagcgtgttttccagggag	5	11	13	12	3	3	0	2	0	1	0	5	1	4	1	3	2	2	2	3	2	1	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr17:39619277G>A	uc002hwr.3	-	5	1083	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M		NM_002278	NP_002269	Q14532	K1H2_HUMAN	Homo sapiens keratin 32 (KRT32), mRNA.	341	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(137;0.000812)				CTCACTCTCCGTCAGCGTGTT	0.572													A	39619277	G	A	39619277	3	1	170	1	0	0	0	0	1	0	0	0	8526	1145	40	1	332	1	KRT32	17	39619277	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	12952555	39619277	41575933	81	11907											
DCC	1630	broad.mit.edu	37	chr18	50451729	50451729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattagtgcctctgcagagcTcacagtcttgggtaagttag	9	13	11	8	0	3	1	1	0	2	1	3	1	3	1	1	1	3	4	1	1	4	5			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr18:50451729T>C	uc002lfe.2	+	4	1590	c.974T>C	c.(973-975)cTc>cCc	p.L325P	DCC_uc010xdr.1_Missense_Mutation_p.L173P	NM_005215	NP_005206	P43146	DCC_HUMAN	Homo sapiens deleted in colorectal carcinoma (DCC), mRNA.	325	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTGCAGAGCTCACAGTCTTG	0.388													C	50451729	T	C	50451729	3	2	170	1	0	0	0	0	1	0	0	0	4316	1551	54	3	992	3	DCC	18	50451729	Missense_Mutation	SNP	T	TCGA-19-5959-01A-11D-1696-08		50451729	27625519	82	11908											
ATCAY	85300	broad.mit.edu	37	chr19	3909561	3909561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacggtgccacgccccggcGgaggatgcctggaatcggct	7	5	16	13	5	0	0	0	0	0	0	1	4	0	3	4	6	3	1	4	6	2	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:3909561G>A	uc010xhz.2	+	7	1226	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	ATCAY_uc002lyy.4_Missense_Mutation_p.R242Q|ATCAY_uc010dts.3_5'UTR			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	242	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		ACGCCCCGGCGGAGGATGCCT	0.592													A	3909561	G	A	3909561	3	1	170	1	0	0	0	0	1	0	0	0	1082	1116	39	1	747	1	ATCAY	19	3909561	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		3909561	55219422	83	11909											
TNFSF9	8744	broad.mit.edu	37	chr19	6534936	6534936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttgctgcacctgagtgcCggccagcgcctgggcgtcca	4	7	14	16	4	0	1	0	1	0	0	1	1	1	1	5	2	4	3	5	2	0	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:6534936C>T	uc002mfh.2	+	2	662	c.624C>T	c.(622-624)gcC>gcT	p.A208A		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	208					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACCTGAGTGCCGGCCAGCGCC	0.697													T	6534936	C	T	6534936	2	4	170	1	0	0	0	0	0	0	0	1	16412	639	23	1		1	TNFSF9	19	6534936	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	2625375	6534936	52594047	84	11910											
DOCK6	57572	broad.mit.edu	37	chr19	11361720	11361720	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctagaggcaccactgcttcGaggggtgtcttccggggagc	6	8	16	11	2	1	1	0	0	1	1	3	3	2	2	2	5	2	3	2	5	1	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:11361720G>A	uc002mqs.4	-	5	591	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_020812	NP_065863	Q96HP0	DOCK6_HUMAN	Homo sapiens dedicator of cytokinesis 6 (DOCK6), mRNA.	184					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCACTGCTTCGAGGGGTGTCT	0.607													A	11361720	G	A	11361720	4	1	170	1	0	0	0	0	0	1	0	0	4730	1066	37	1	5765	1	DOCK6	19	11361720	Nonsense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	4826784	11361720	47767263	85	11911											
OR10H5	284433	broad.mit.edu	37	chr19	15905063	15905063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtgccctctccatcAccgagatcctctacaccgtg	6	11	7	17	2	3	1	1	0	2	1	6	2	5	1	6	0	2	0	6	0	1	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:15905063A>G	uc010xos.2	+	0	205	c.205A>G	c.(205-207)Acc>Gcc	p.T69A		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	69					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCTCTCCATCACCGAGATCCT	0.622													G	15905063	A	G	15905063	3	3	170	1	0	0	0	0	1	0	0	0	10985	159	6	3	207	3	OR10H5	19	15905063	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	4543343	15905063	43223920	86	11912											
HIF3A	64344	broad.mit.edu	37	chr19	46832519	46832519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatctccatggatgatgActtccagctcaacgccagcg	10	9	8	14	2	2	2	1	2	1	0	4	3	3	3	3	1	4	1	3	1	2	2			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:46832519A>G	uc002peh.3	+	11	1527	c.1496A>G	c.(1495-1497)gAc>gGc	p.D499G	HIF3A_uc002peg.4_Missense_Mutation_p.D499G|HIF3A_uc021uwf.1_Missense_Mutation_p.D443G|HIF3A_uc002pej.2_Intron|HIF3A_uc010xxy.2_Missense_Mutation_p.D430G|HIF3A_uc002pel.3_Missense_Mutation_p.D497G|HIF3A_uc010xxz.2_Missense_Mutation_p.D448G	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	499	NTAD.|ODD.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		ATGGATGATGACTTCCAGCTC	0.622													G	46832519	A	G	46832519	3	3	170	1	0	0	0	0	1	0	0	0	7160	275	10	3	1566	3	HIF3A	19	46832519	Missense_Mutation	SNP	A	TCGA-19-5959-01A-11D-1696-08	30927456	46832519	12296464	87	11913											
FPR2	2358	broad.mit.edu	37	chr19	52272915	52272915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccccaactaatgacaCggctgccaattctgcttcac	10	9	6	16	1	3	1	2	1	1	0	3	1	3	1	3	1	4	2	3	1	3	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:52272915C>T	uc002pxr.3	+	1	1049	c.1004C>T	c.(1003-1005)aCg>aTg	p.T335M	FPR2_uc002pxs.4_Missense_Mutation_p.T335M|FPR2_uc010epf.3_Missense_Mutation_p.T335M|FPR2_uc021uyp.1_Missense_Mutation_p.T335M	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	335					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity	p.T335R(2)|p.T335T(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						ACTAATGACACGGCTGCCAAT	0.537													T	52272915	C	T	52272915	3	4	170	1	0	0	0	0	1	0	0	0	6090	536	19	1	1006	1	FPR2	19	52272915	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	5440396	52272915	6856068	88	11914											
ZNF71	58491	broad.mit.edu	37	chr19	57133247	57133247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcaaggccttcagccagCgcatgaacctcactgtgcac	9	6	11	15	2	2	1	2	1	0	0	2	1	2	1	3	2	4	3	3	2	2	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr19:57133247C>T	uc002qnm.4	+	2	830	c.592C>T	c.(592-594)Cgc>Tgc	p.R198C	ZNF71_uc021vcg.1_Missense_Mutation_p.R198C	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTTCAGCCAGCGCATGAACCT	0.637													T	57133247	C	T	57133247	3	4	170	1	0	0	0	0	1	0	0	0	18215	768	27	1	594	1	ZNF71	19	57133247	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	4860332	57133247	1995736	89	11915											
CHGB	1114	broad.mit.edu	37	chr20	5903871	5903871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggacctggagtgggagCgctataggggcagaggaagt	10	6	19	6	1	0	2	0	1	0	1	0	6	0	6	1	6	1	2	1	6	3	2	rs144051265		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:5903871C>T	uc002wmg.3	+	3	1387	c.1081C>T	c.(1081-1083)Cgc>Tgc	p.R361C	CHGB_uc010zqz.2_Missense_Mutation_p.R44C	NM_001819	NP_001810	P05060	SCG1_HUMAN	Homo sapiens chromogranin B (secretogranin 1) (CHGB), mRNA.	361						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGAGTGGGAGCGCTATAGGGG	0.527													T	5903871	C	T	5903871	3	4	170	1	0	0	0	0	1	0	0	0	3369	768	27	1	1095	1	CHGB	20	5903871	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08		5903871	57121649	90	11916											
SNTA1	6640	broad.mit.edu	37	chr20	32000203	32000203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttcagttagcagggcCagggtgggggctgtgccccc	4	10	15	12	0	1	0	1	0	0	0	2	0	2	0	4	4	2	3	4	4	1	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:32000203C>T	uc002wzd.1	-	4	1211	c.939G>A	c.(937-939)ctG>ctA	p.L313L	SNTA1_uc010zuf.1_Intron	NM_003098	NP_003089	Q13424	SNTA1_HUMAN	Homo sapiens syntrophin, alpha 1 (dystrophin-associated protein A1, 59kDa, acidic component) (SNTA1), mRNA.	313	PH 2.				muscle contraction	cell junction|cytoplasm|cytoskeleton|sarcolemma	actin binding|calmodulin binding			breast(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(1)	13						TTAGCAGGGCCAGGGTGGGGG	0.652													T	32000203	C	T	32000203	2	4	170	1	0	0	0	0	0	0	0	1	14965	581	21	2		2	SNTA1	20	32000203	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	26096332	32000203	31025317	91	11917											
SRMS	6725	broad.mit.edu	37	chr20	62178625	62178625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctccccgccacaccgCgccgtgaagtcatagagcgc	8	5	10	18	5	2	2	2	1	0	1	3	2	3	2	5	0	2	1	5	0	2	1	rs140773907		TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr20:62178625C>T	uc002yfi.1	-	0	233	c.192G>A	c.(190-192)gcG>gcA	p.A64A		NM_080823	NP_543013	Q9H3Y6	SRMS_HUMAN	Homo sapiens src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites (SRMS), mRNA.	64	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCCACACCGCGCCGTGAAGT	0.692													T	62178625	C	T	62178625	2	4	170	1	0	0	0	0	0	0	0	1	15248	755	27	1		1	SRMS	20	62178625	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	30178422	62178625	846895	92	11918											
PCNT	5116	broad.mit.edu	37	chr21	47850134	47850134	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaggtgcagcaggaggTcctccagctgaggtgcgcct	6	7	16	12	2	0	1	0	1	0	0	2	3	2	2	3	4	5	3	3	4	0	0			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chr21:47850134T>C	uc002zji.4	+	35	8008	c.7901T>C	c.(7900-7902)gTc>gCc	p.V2634A	PCNT_uc002zjj.3_Missense_Mutation_p.V2516A	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2634					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCAGGAGGTCCTCCAGCTG	0.607													C	47850134	T	C	47850134	3	2	170	1	0	0	0	0	1	0	0	0	11666	1667	58	3	8043	3	PCNT	21	47850134	Missense_Mutation	SNP	T	TCGA-19-5959-01A-11D-1696-08		47850134	279761	93	11919											
ZRSR2	8233	broad.mit.edu	37	chrX	15841126	15841126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaaaagtagtcgtcacaggGggaagaaatctcacaaacgc	16	5	12	8	2	2	1	2	0	1	1	4	3	2	3	0	3	1	1	0	3	6	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:15841126G>A	uc004cxg.4	+	10	1255	c.1210G>A	c.(1210-1212)Ggg>Agg	p.G404R		NM_005089	NP_005080	Q15696	U2AFM_HUMAN	Homo sapiens zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2 (ZRSR2), mRNA.	404					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					TCGTCACAGGGGGAAGAAATC	0.552			"F, S, Mis"		"MDS, CLL"								A	15841126	G	A	15841126	3	1	170	1	0	0	0	0	1	0	0	0	18324	1232	43	2	1252	2	ZRSR2	23	15841126	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08		15841126	139429434	94	11920											
FTHL17	53940	broad.mit.edu	37	chrX	31089936	31089936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctccagggccacgtcGtcccggttgaagtagaaggc	9	8	13	11	3	1	2	0	1	1	1	4	2	2	2	3	3	0	3	3	3	4	3			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:31089936G>A	uc004dcl.1	-	0	235	c.135C>T	c.(133-135)gaC>gaT	p.D45D		NM_031894	NP_114100	Q9BXU8	FHL17_HUMAN	Homo sapiens ferritin, heavy polypeptide-like 17 (FTHL17), mRNA.	45	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGGCCACGTCGTCCCGGTTGA	0.582													A	31089936	G	A	31089936	2	1	170	1	0	0	0	0	0	0	0	1	6135	1136	40	1		1	FTHL17	23	31089936	Silent	SNP	G	TCGA-19-5959-01A-11D-1696-08	15248810	31089936	124180624	95	11921											
HUWE1	10075	broad.mit.edu	37	chrX	53591568	53591568	+	Frame_Shift_Del	DEL	C	C	-																															gaactgagcacctcaggctgCccagcaatcaccactgagtc																										TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:53591568delC	uc004dsp.3	-	50	7398	c.6996delG	c.(6994-6996)gggfs	p.G2332fs	HUWE1_uc004dsn.3_Frame_Shift_Del_p.G1156fs	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	2332	Glu-rich.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTCAGGCTGCCCAGCAATCA	0.562													-	53591568	C	-	53591568	7	5	170	1	0	1	0	1	0	0	0	0	7519	726	26	0	6264	0	HUWE1	23	53591568	Frame_Shift_Del	DEL	C	TCGA-19-5959-01A-11D-1696-08	22501632	53591568	101678992	96	11922											
FAM155B	27112	broad.mit.edu	37	chrX	68725733	68725733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttttgcgacacctacaCggtctgggacttgctgctgg	5	12	11	13	2	1	0	0	0	1	0	2	2	2	1	2	3	4	2	2	3	1	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:68725733C>T	uc004dxk.3	+	0	656	c.608C>T	c.(607-609)aCg>aTg	p.T203M		NM_015686	NP_056501	O75949	F155B_HUMAN	Homo sapiens family with sequence similarity 155, member B (FAM155B), mRNA.	203						integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)	16						GACACCTACACGGTCTGGGAC	0.632													T	68725733	C	T	68725733	3	4	170	1	0	0	0	0	1	0	0	0	5511	536	19	1	610	1	FAM155B	23	68725733	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	15134165	68725733	86544827	97	11923											
AIFM1	9131	broad.mit.edu	37	chrX	129272643	129272643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaattgatttgacttcccGtgaaatcttctccaagcttc	9	15	6	11	2	2	3	0	3	2	0	5	3	3	3	2	0	1	2	2	0	3	6			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:129272643G>A	uc004evg.3	-	8	1123	c.892C>T	c.(892-894)Cgg>Tgg	p.R298W	AIFM1_uc011mur.2_5'Flank|AIFM1_uc011mus.2_Missense_Mutation_p.R298W|AIFM1_uc004evh.3_Missense_Mutation_p.R294W|AIFM1_uc004evi.3_Intron|AIFM1_uc004evk.3_5'UTR	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	298	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TTGACTTCCCGTGAAATCTTC	0.433													A	129272643	G	A	129272643	3	1	170	1	0	0	0	0	1	0	0	0	426	1144	40	1	993	1	AIFM1	23	129272643	Missense_Mutation	SNP	G	TCGA-19-5959-01A-11D-1696-08	60546910	129272643	25997917	98	11924											
GPR112	139378	broad.mit.edu	37	chrX	135431775	135431775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacttccacattggctgaCgttaagcacacatttgagaa	13	11	7	10	1	1	2	1	2	0	1	2	3	2	2	1	1	1	3	1	1	2	4			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:135431775C>T	uc004ezu.1	+	5	6201	c.5910C>T	c.(5908-5910)gaC>gaT	p.D1970D	GPR112_uc010nsb.1_Silent_p.D1765D|GPR112_uc010nsc.1_Silent_p.D1737D	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	1970					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.D1970D(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CATTGGCTGACGTTAAGCACA	0.413													T	135431775	C	T	135431775	2	4	170	1	0	0	0	0	0	0	0	1	6683	535	19	1		1	GPR112	23	135431775	Silent	SNP	C	TCGA-19-5959-01A-11D-1696-08	6159132	135431775	19838785	99	11925											
SRPK3	26576	broad.mit.edu	37	chrX	153049211	153049211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctggctctgacagcagaCcggtaagctgtccaaaaaca	13	6	9	13	1	1	2	0	1	1	1	2	2	2	2	3	2	3	4	3	2	3	1			TCGA-19-5959-01A-11D-1696-08	TCGA-19-5959-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dd3e4733-7154-4162-9a61-a3a685e5f561	3a0f00b9-668f-4afb-8d07-998ed98c2181	g.chrX:153049211C>A	uc004fik.3	+	14	3402	c.977C>A	c.(976-978)aCc>aAc	p.T326N	SRPK3_uc004fim.3_Splice_Site_p.T259_splice|SRPK3_uc004fil.3_Missense_Mutation_p.T260N|SRPK3_uc004fin.3_Splice_Site_p.T259_splice|SRPK3_uc010nul.3_Splice_Site_p.T217_splice	NM_014370	NP_055185	Q9UPE1	SRPK3_HUMAN	Homo sapiens SRSF protein kinase 3 (SRPK3), transcript variant 1, mRNA.	260	Protein kinase.				cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGACAGCAGACCGGTAAGCTG	0.622													A	153049211	C	A	153049211	3	1	170	1	0	0	0	0	1	0	0	0	15257	521	18	4	813	4	SRPK3	23	153049211	Missense_Mutation	SNP	C	TCGA-19-5959-01A-11D-1696-08	17617436	153049211	2221349	100	11926											
MTF1	4520	broad.mit.edu	37	chr1	38297931	38297931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttaccgtactggaattttCtcgcaattcagaatctgtgg	10	14	8	9	2	3	1	1	0	2	1	4	2	3	2	1	2	2	2	1	2	5	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:38297931C>G	uc001cce.1	-	6	1195	c.1054G>C	c.(1054-1056)Gaa>Caa	p.E352Q	MTF1_uc009vvj.1_Missense_Mutation_p.E43Q	NM_005955	NP_005946	Q14872	MTF1_HUMAN	Homo sapiens metal-regulatory transcription factor 1 (MTF1), mRNA.	352						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTGGAATTTTCTCGCAATTCA	0.393													G	38297931	C	G	38297931	3	3	171	1	0	0	0	0	1	0	0	0	9998	922	32	4	1227	4	MTF1	1	38297931	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		38297931	210952690	1	11927											
BSND	7809	broad.mit.edu	37	chr1	55470704	55470704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttgcagatcaccttcGtccctgctgactctgacttt	5	16	7	13	1	2	3	1	2	1	1	4	3	3	3	2	0	3	3	2	0	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:55470704G>A	uc001cye.3	+	1	430	c.187G>A	c.(187-189)Gtc>Atc	p.V63I		NM_057176	NP_476517	Q8WZ55	BSND_HUMAN	Homo sapiens Bartter syndrome, infantile, with sensorineural deafness (Barttin) (BSND), mRNA.	63						basolateral plasma membrane|cytoplasm|integral to plasma membrane|protein complex				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GATCACCTTCGTCCCTGCTGA	0.582													A	55470704	G	A	55470704	3	1	171	1	0	0	0	0	1	0	0	0	1540	1145	40	1	193	1	BSND	1	55470704	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	17172773	55470704	193779917	2	11928											
HFM1	164045	broad.mit.edu	37	chr1	91840986	91840986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagcctgttgcacaccCttccttgttgcacaaaactg	10	10	8	13	0	0	0	0	0	0	0	1	1	1	0	3	0	5	5	3	0	3	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:91840986C>T	uc001doa.4	-	12	1713	c.1614G>A	c.(1612-1614)aaG>aaA	p.K538K	HFM1_uc010osu.2_Silent_p.K217K|HFM1_uc010osv.1_Silent_p.K222K	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	538	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		GTTGCACACCCTTCCTTGTTG	0.308													T	91840986	C	T	91840986	2	4	171	1	0	0	0	0	0	0	0	1	7138	680	24	2		2	HFM1	1	91840986	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	36370282	91840986	157409635	3	11929											
TCHH	7062	broad.mit.edu	37	chr1	152083402	152083402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccatgtgaagtcccggCgctgctcctcttcctgctgc	4	11	10	16	2	1	1	0	1	1	0	4	1	4	1	4	1	4	3	4	1	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:152083402C>G	uc009wne.1	-	2	2563	c.2291G>C	c.(2290-2292)cGc>cCc	p.R764P	TCHH_uc001ezp.2_Missense_Mutation_p.R764P	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	764					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGTCCCGGCGCTGCTCCTC	0.682													G	152083402	C	G	152083402	3	3	171	1	0	0	0	0	1	0	0	0	15800	768	27	4	3544	4	TCHH	1	152083402	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	60242416	152083402	97167219	4	11930											
NCF2	4688	broad.mit.edu	37	chr1	183546838	183546838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctttgatagccaaatCatatctgcaggacagaggga	14	9	11	7	0	3	2	1	1	2	1	3	4	3	4	1	3	2	1	1	3	4	3			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:183546838C>A	uc001gqj.4	-	2	537	c.262G>T	c.(262-264)Gat>Tat	p.D88Y	NCF2_uc010pod.2_Missense_Mutation_p.D88Y|NCF2_uc010poe.2_Missense_Mutation_p.D88Y|NCF2_uc001gqk.4_Missense_Mutation_p.D88Y	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	88					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ATAGCCAAATCATATCTGCAG	0.443													A	183546838	C	A	183546838	3	1	171	1	0	0	0	0	1	0	0	0	10293	826	29	4	1370	4	NCF2	1	183546838	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	31463436	183546838	65703783	5	11931											
OBSCN	84033	broad.mit.edu	37	chr1	228505193	228505193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcccccagaggatgctgaGgtggtggctcgcagcagcca	8	6	15	12	1	0	2	0	1	0	1	2	4	1	3	3	4	3	4	3	4	0	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr1:228505193G>T	uc009xez.1	+	51	13634	c.13590G>T	c.(13588-13590)gaG>gaT	p.E4530D	OBSCN_uc001hsn.3_Missense_Mutation_p.E4530D	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	4530	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGATGCTGAGGTGGTGGCTC	0.647													T	228505193	G	T	228505193	3	4	171	1	0	0	0	0	1	0	0	0	10888	991	35	4	13792	4	OBSCN	1	228505193	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	44958355	228505193	20745428	6	11932											
EPT1	85465	broad.mit.edu	37	chr2	26596336	26596336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgtgtttactttgttGtgactgtttattccatcttt	5	22	8	6	0	2	1	1	1	1	0	3	1	3	1	1	1	1	3	1	1	2	8			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:26596336G>A	uc021veu.1	+	4	559	c.412G>A	c.(412-414)Gtg>Atg	p.V138M	EPT1_uc010eyl.1_Non-coding_Transcript	NM_033505		Q9C0D9	EPT1_HUMAN	Homo sapiens ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific) (EPT1), mRNA.	138					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										TTACTTTGTTGTGACTGTTTA	0.433													A	26596336	G	A	26596336	3	1	171	1	0	0	0	0	1	0	0	0	5240	1377	48	2	430	2	EPT1	2	26596336	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		26596336	216603037	7	11933											
TTN	7273	broad.mit.edu	37	chr2	179432795	179432795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtggtaacctatgaCggggcttccaccattgttga	8	11	11	11	1	0	2	0	2	0	0	2	2	2	2	4	4	1	3	4	4	2	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr2:179432795C>T	uc021vsy.1	-	274	70585	c.70360G>A	c.(70360-70362)Gtc>Atc	p.V23454I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V17149I|TTN_uc021vta.1_Missense_Mutation_p.V17082I|TTN_uc021vtb.1_Missense_Mutation_p.V16957I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24381	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAACCTATGACGGGGCTTCCA	0.443													T	179432795	C	T	179432795	3	4	171	1	0	0	0	0	1	0	0	0	16837	536	19	1	30063	1	TTN	2	179432795	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	152836459	179432795	63766578	8	11934											
OXSR1	9943	broad.mit.edu	37	chr3	38266149	38266149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaaaatatggaaaatcaTttagaaaaatgatttcattg	20	13	6	2	0	2	3	2	2	0	1	2	4	2	4	0	1	0	0	0	1	9	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:38266149T>C	uc003chy.3	+	7	1132	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L	OXSR1_uc010hhb.3_Missense_Mutation_p.F198L|OXSR1_uc010hha.1_Missense_Mutation_p.F196L	NM_005109	NP_005100	O95747	OXSR1_HUMAN	Homo sapiens oxidative-stress responsive 1 (OXSR1), mRNA.	264	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			skin(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		TGGAAAATCATTTAGAAAAAT	0.313													C	38266149	T	C	38266149	3	2	171	1	0	0	0	0	1	0	0	0	11412	1493	52	3	820	3	OXSR1	3	38266149	Missense_Mutation	SNP	T	TCGA-19-5960-01A-11D-1696-08		38266149	159756281	9	11935											
TRAK1	22906	broad.mit.edu	37	chr3	42242442	42242442	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccctcctgtccagctgCgtcagcaccccccggtccag	6	7	8	20	2	1	0	1	0	0	0	5	0	5	0	7	1	4	2	7	1	1	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:42242442C>T	uc003cky.3	+	11	1539	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	TRAK1_uc011azh.2_Silent_p.C441C|TRAK1_uc011azi.2_Silent_p.C441C|TRAK1_uc003ckz.4_Silent_p.C367C|TRAK1_uc011azj.2_Silent_p.C367C|TRAK1_uc003cla.3_Silent_p.C383C	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	441	Interaction with HGS.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TGTCCAGCTGCGTCAGCACCC	0.582													T	42242442	C	T	42242442	2	4	171	1	0	0	0	0	0	0	0	1	16550	776	27	1		1	TRAK1	3	42242442	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	3976293	42242442	155779988	10	11936											
CASR	846	broad.mit.edu	37	chr3	122003250	122003250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctcatcttcttcatcGtctggatctccttcattcca	6	16	5	14	1	7	0	3	0	4	0	10	1	8	1	2	1	1	2	2	1	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:122003250G>A	uc003eew.4	+	6	2917	c.2479G>A	c.(2479-2481)Gtc>Atc	p.V827I	CASR_uc003eev.4_Missense_Mutation_p.V817I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	817					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CTTCTTCATCGTCTGGATCTC	0.527													A	122003250	G	A	122003250	3	1	171	1	0	0	0	0	1	0	0	0	2708	1145	40	1	2501	1	CASR	3	122003250	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	79760808	122003250	76019180	11	11937											
COL6A6	131873	broad.mit.edu	37	chr3	130313143	130313143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcccagggaagagaGggactcctggtgaccgtgga	11	4	18	8	1	0	2	0	1	0	1	1	7	1	6	3	5	1	0	3	5	2	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:130313143G>C	uc010htl.3	+	16	4520	c.4489G>C	c.(4489-4491)Ggg>Cgg	p.G1497R	COL6A6_uc003eni.4_5'UTR	NM_001102608	NP_001096078	A6NMZ7	CO6A6_HUMAN	Homo sapiens collagen, type VI, alpha 6 (COL6A6), mRNA.	1497	Triple-helical region.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						AGGGAAGAGAGGGACTCCTGG	0.463													C	130313143	G	C	130313143	3	2	171	1	0	0	0	0	1	0	0	0	3734	1000	35	4	4555	4	COL6A6	3	130313143	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	8309893	130313143	67709287	12	11938											
TP63	8626	broad.mit.edu	37	chr3	189587160	189587160	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgacatccatcaagaaaCgaagatccccagatgatgaa	18	6	8	9	1	1	7	1	3	0	4	3	8	3	7	3	0	1	0	3	0	4	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:189587160C>T	uc003fry.2	+	8	1266	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	TP63_uc003frx.2_Nonsense_Mutation_p.R393*|TP63_uc003frz.2_Nonsense_Mutation_p.R393*|TP63_uc010hzc.1_Nonsense_Mutation_p.R393*|TP63_uc003fsa.2_Nonsense_Mutation_p.R299*|TP63_uc003fsb.2_Nonsense_Mutation_p.R299*|TP63_uc003fsc.2_Nonsense_Mutation_p.R299*|TP63_uc003fsd.2_Nonsense_Mutation_p.R299*|TP63_uc021xir.1_Nonsense_Mutation_p.R299*|TP63_uc010hzd.1_Nonsense_Mutation_p.R214*|TP63_uc003fse.1_Nonsense_Mutation_p.R270*	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	393					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CATCAAGAAACGAAGATCCCC	0.413										HNSCC(45;0.13)			T	189587160	C	T	189587160	4	4	171	1	0	0	0	0	0	1	0	0	16493	528	19	1	1257	1	TP63	3	189587160	Nonsense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	59274017	189587160	8435270	13	11939											
FYTTD1	84248	broad.mit.edu	37	chr3	197497100	197497100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttctcaagagacctaGccagctaagcagaaagtaag	16	6	10	9	0	1	2	1	0	1	2	2	3	1	2	2	0	4	5	2	0	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr3:197497100G>T	uc003fyi.2	+	3	701	c.482G>T	c.(481-483)aGc>aTc	p.S161I	FYTTD1_uc011bui.1_Missense_Mutation_p.S135I|FYTTD1_uc011buj.1_Intron|FYTTD1_uc011buk.1_Missense_Mutation_p.S94I	NM_032288	NP_115664	Q96QD9	UIF_HUMAN	Homo sapiens forty-two-three domain containing 1 (FYTTD1), transcript variant 1, mRNA.	161					mRNA export from nucleus	nuclear speck	mRNA binding|protein binding			kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	13	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.175)		AAGAGACCTAGCCAGCTAAGC	0.363													T	197497100	G	T	197497100	3	4	171	1	0	0	0	0	1	0	0	0	6179	971	34	4	525	4	FYTTD1	3	197497100	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	7909940	197497100	525330	14	11940											
EGF	1950	broad.mit.edu	37	chr4	110895931	110895931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actaaggagaacatctctcaAccacgaggaattgctgttca	14	9	8	10	1	3	1	2	0	1	1	4	4	3	2	1	2	3	2	1	2	4	3			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr4:110895931A>T	uc003hzy.4	+	11	2249	c.1797A>T	c.(1795-1797)caA>caT	p.Q599H	EGF_uc011cfu.2_Missense_Mutation_p.Q557H|EGF_uc011cfv.2_Missense_Mutation_p.Q599H	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	599					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACATCTCTCAACCACGAGGAA	0.388													T	110895931	A	T	110895931	3	4	171	1	0	0	0	0	1	0	0	0	5001	40	2	5	1843	5	EGF	4	110895931	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08		110895931	80258345	15	11941											
C6	729	broad.mit.edu	37	chr5	41196027	41196027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctaactttctggcaaTgcagcggcctagtcaagaaa	12	10	9	10	1	3	1	1	0	2	1	3	1	3	1	1	2	3	3	1	2	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:41196027T>C	uc003jmk.2	-	4	664	c.454A>G	c.(454-456)Att>Gtt	p.I152V	C6_uc003jml.1_Missense_Mutation_p.I152V	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	152	LDL-receptor class A.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTCTGGCAATGCAGCGGCCT	0.358													C	41196027	T	C	41196027	3	2	171	1	0	0	0	0	1	0	0	0	2337	1464	51	3	2406	3	C6	5	41196027	Missense_Mutation	SNP	T	TCGA-19-5960-01A-11D-1696-08		41196027	139719233	16	11942											
C5orf34	375444	broad.mit.edu	37	chr5	43487196	43487196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatctggtttaggatacCactattttctagtagcacta	13	14	7	7	0	2	1	0	0	2	1	2	2	2	2	1	2	2	3	1	2	7	9			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:43487196C>A	uc003jnz.2	-	12	2140	c.1738G>T	c.(1738-1740)Ggt>Tgt	p.G580C		NM_198566	NP_940968	Q96MH7	CE034_HUMAN	Homo sapiens chromosome 5 open reading frame 34 (C5orf34), mRNA.	580										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TTTAGGATACCACTATTTTCT	0.313													A	43487196	C	A	43487196	3	1	171	1	0	0	0	0	1	0	0	0	2315	594	21	4	182	4	C5orf34	5	43487196	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	2291169	43487196	137428064	17	11943											
FGFR4	2264	broad.mit.edu	37	chr5	176519769	176519769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcctaccagtctgcctgGctcacggtgctgccaggtga	5	10	11	15	1	3	1	1	1	2	0	4	1	3	1	4	3	4	2	4	3	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr5:176519769G>A	uc003mfl.3	+	7	1208	c.1041G>A	c.(1039-1041)tgG>tgA	p.W347*	FGFR4_uc003mfm.3_Nonsense_Mutation_p.W347*|FGFR4_uc011dfu.2_Nonsense_Mutation_p.W347*|FGFR4_uc011dfw.1_Nonsense_Mutation_p.W347*|FGFR4_uc003mfo.3_Nonsense_Mutation_p.W347*	NM_002011	NP_998812	P22455	FGFR4_HUMAN	Homo sapiens fibroblast growth factor receptor 4 (FGFR4), transcript variant 1, mRNA.	347	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	AGTCTGCCTGGCTCACGGTGC	0.647										TSP Lung(9;0.080)			A	176519769	G	A	176519769	4	1	171	1	0	0	0	0	0	1	0	0	5917	1212	42	2	1067	2	FGFR4	5	176519769	Nonsense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	133032573	176519769	4395491	18	11944											
TMEM217	221468	broad.mit.edu	37	chr6	37186701	37186701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaactgccattccctaggtGcttctgttcaaagatgagat	10	12	9	10	0	2	2	1	1	1	2	3	3	3	2	2	1	3	3	2	1	3	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:37186701G>T	uc003onl.3	-	1	187	c.106C>A	c.(106-108)Cac>Aac	p.H36N	TMEM217_uc010jwr.3_Missense_Mutation_p.H36N|TMEM217_uc010jws.3_Intron|TMEM217_uc003onm.4_Missense_Mutation_p.H36N	NM_145316	NP_660359	Q8N7C4	TM217_HUMAN	Homo sapiens transmembrane protein 217 (TMEM217), transcript variant 1, mRNA.	36						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TTCCCTAGGTGCTTCTGTTCA	0.468													T	37186701	G	T	37186701	3	4	171	1	0	0	0	0	1	0	0	0	16240	1319	46	4	595	4	TMEM217	6	37186701	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		37186701	133928366	19	11945											
DNAH8	1769	broad.mit.edu	37	chr6	38830180	38830180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggaaaatatgtggtcGtgttcaattgctcagatcaa	11	14	11	5	1	3	1	3	0	0	1	4	2	3	2	0	2	1	3	0	2	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:38830180G>A	uc021yzh.1	+	43	6365	c.6256G>A	c.(6256-6258)Gtg>Atg	p.V2086M	DNAH8_uc003ooe.2_Missense_Mutation_p.V1869M	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATATGTGGTCGTGTTCAATTG	0.418													A	38830180	G	A	38830180	3	1	171	1	0	0	0	0	1	0	0	0	4646	1145	40	1	5763	1	DNAH8	6	38830180	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	1643479	38830180	132284887	20	11946											
LRFN2	57497	broad.mit.edu	37	chr6	40400626	40400626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcaggtccaccagccccGtcatgttggcaaagtcctgg	7	8	13	13	1	2	0	2	0	0	0	4	0	4	0	5	4	1	2	5	4	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:40400626G>A	uc003oph.1	-	1	692	c.227C>T	c.(226-228)aCg>aTg	p.T76M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	76						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGCCCCGTCATGTTGGC	0.597													A	40400626	G	A	40400626	3	1	171	1	0	0	0	0	1	0	0	0	9008	1145	40	1	2150	1	LRFN2	6	40400626	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	1570446	40400626	130714441	21	11947											
TBP	6908	broad.mit.edu	37	chr6	170880497	170880497	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgcaattttccttctaGttatgagccagagttatttc	8	20	6	7	0	1	2	0	1	1	1	3	2	2	2	2	0	2	3	2	0	4	9			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr6:170880497G>A	uc003qxu.3	+	7	1125	c.846_splice	c.e7-1	p.S282_splice	TBP_uc011ehf.2_Splice_Site_p.S262_splice|TBP_uc003qxt.3_Splice_Site_p.S282_splice	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	282					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		TTTCCTTCTAGTTATGAGCCA	0.318													A	170880497	G	A	170880497	5	1	171	1	0	0	0	0	0	0	1	0	15744	1043	36	2	867	2	TBP	6	170880497	Splice_Site	SNP	G	TCGA-19-5960-01A-11D-1696-08	130479871	170880497	234570	22	11948											
TECPR1	25851	broad.mit.edu	37	chr7	97862242	97862242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcagcggtctgggccGgcgtgatggacagggacagc	7	5	18	11	3	1	1	0	1	1	0	2	3	2	3	2	6	2	1	2	6	0	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:97862242G>A	uc003upg.3	-	11	1920	c.1715C>T	c.(1714-1716)cCg>cTg	p.P572L	TECPR1_uc003uph.1_Missense_Mutation_p.P502L	NM_015395	NP_056210	Q7Z6L1	TCPR1_HUMAN	Homo sapiens tectonin beta-propeller repeat containing 1 (TECPR1), mRNA.	572						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GGTCTGGGCCGGCGTGATGGA	0.652													A	97862242	G	A	97862242	3	1	171	1	0	0	0	0	1	0	0	0	15843	1116	39	1	1842	1	TECPR1	7	97862242	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		97862242	61276421	23	11949											
CYP3A7	1577	broad.mit.edu	37	chr7	99264589	99264589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctccttgagttttcCgctggtgaaggttggagaca	8	13	11	9	1	1	3	1	2	0	1	3	4	3	3	3	3	1	3	3	3	2	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:99264589C>T	uc003urq.3	-	4	520	c.418G>A	c.(418-420)Gga>Aga	p.G140R	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.G27R|CYP3A7_uc011kiy.2_Missense_Mutation_p.G130R|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	140					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.G140R(1)		autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					TTGAGTTTTCCGCTGGTGAAG	0.413													T	99264589	C	T	99264589	3	4	171	1	0	0	0	0	1	0	0	0	4214	661	23	1		1	CYP3A7	7	99264589	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	1402347	99264589	59874074	24	11950											
KIAA1147	57189	broad.mit.edu	37	chr7	141365018	141365018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacctctacctccaggctCtcgatgtcagccacgttcac	8	9	7	17	2	4	0	2	0	2	0	6	2	5	0	4	1	2	2	4	1	1	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:141365018C>G	uc003vwk.3	-	5	921	c.921G>C	c.(919-921)gaG>gaC	p.E307D		NM_001080392	NP_001073861	A4D1U4	LCHN_HUMAN	Homo sapiens KIAA1147 (KIAA1147), mRNA.	307								p.I306L(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					CCTCCAGGCTCTCGATGTCAG	0.602													G	141365018	C	G	141365018	3	3	171	1	0	0	0	0	1	0	0	0	8268	912	32	4	462	4	KIAA1147	7	141365018	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	42100429	141365018	17773645	25	11951											
NOS3	4846	broad.mit.edu	37	chr7	150695737	150695737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggatggctctgtgcGgggggacccagccaacgtgg	7	5	18	11	2	1	0	0	0	1	0	1	2	1	2	2	6	4	3	2	6	1	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr7:150695737G>A	uc003wif.3	+	6	1081	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	NOS3_uc011kuy.2_Missense_Mutation_p.R56Q|NOS3_uc011kva.2_Missense_Mutation_p.R262Q|NOS3_uc011kuz.2_Missense_Mutation_p.R262Q|NOS3_uc011kvb.2_Missense_Mutation_p.R262Q	NM_000603	NP_000594	P29474	NOS3_HUMAN	Homo sapiens nitric oxide synthase 3 (endothelial cell) (NOS3), transcript variant 1, mRNA.	262	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTCTGTGCGGGGGGACCCA	0.652													A	150695737	G	A	150695737	3	1	171	1	0	0	0	0	1	0	0	0	10620	1116	39	1	807	1	NOS3	7	150695737	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	9330719	150695737	8442926	26	11952											
IMPAD1	54928	broad.mit.edu	37	chr8	57905955	57905955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacacagccagcatctcgcGcaagtccacggtgcccccat	9	6	9	17	3	1	1	0	1	1	0	3	1	2	1	4	1	3	2	4	1	1	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:57905955G>A	uc003xte.4	-	0	476	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C		NM_017813	NP_060283	Q9NX62	IMPA3_HUMAN	Homo sapiens inositol monophosphatase domain containing 1 (IMPAD1), mRNA.	64						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				AGCATCTCGCGCAAGTCCACG	0.741													A	57905955	G	A	57905955	3	1	171	1	0	0	0	0	1	0	0	0	7783	1087	38	1	909	1	IMPAD1	8	57905955	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		57905955	88458067	27	11953											
TPD52	7163	broad.mit.edu	37	chr8	80954870	80954870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctttaagttttcgacCttttcttcaaatgatttaaa	10	19	4	8	1	2	1	1	1	1	0	3	2	2	1	2	0	1	1	2	0	4	10			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr8:80954870C>T	uc022awn.1	-	6	931	c.609G>A	c.(607-609)aaG>aaA	p.K203K	TPD52_uc010lzr.3_Non-coding_Transcript|TPD52_uc010lzs.1_Non-coding_Transcript|TPD52_uc003ybs.1_Silent_p.K163K|TPD52_uc003ybt.1_Silent_p.K140K|TPD52_uc003ybq.1_Non-coding_Transcript|TPD52_uc003ybr.1_Silent_p.K180K|TPD52_uc022awm.1_Non-coding_Transcript|TPD52_uc022awo.1_Silent_p.K194K|TPD52_uc022awp.1_Silent_p.K189K	NM_001025253	NP_001020424	P55327	TPD52_HUMAN	Homo sapiens tumor protein D52 (TPD52), transcript variant 2, mRNA.	180					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			AGTTTTCGACCTTTTCTTCAA	0.308													T	80954870	C	T	80954870	2	4	171	1	0	0	0	0	0	0	0	1	16498	680	24	2		2	TPD52	8	80954870	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	23048915	80954870	65409152	28	11954											
FBP1	2203	broad.mit.edu	37	chr9	97401548	97401548	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctcctccatgacgaagcgGgtcagggtgttgacgtccgt	6	9	13	13	4	1	2	1	2	0	0	4	3	4	2	4	2	1	1	4	2	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:97401548G>C	uc004auw.4	-	0	376	c.45C>G	c.(43-45)acC>acG	p.T15T	FBP1_uc010mrl.3_Silent_p.T15T	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	15					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TGACGAAGCGGGTCAGGGTGT	0.667													C	97401548	G	C	97401548	2	2	171	1	0	0	0	0	0	0	0	1	5754	1219	43	4		4	FBP1	9	97401548	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08		97401548	43811883	29	11955											
TRAF2	7186	broad.mit.edu	37	chr9	139818449	139818449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcggtggcccttcaaccaGaaggtgaggccgtccctgca	7	7	13	14	2	1	2	1	1	0	1	2	2	2	2	4	4	3	1	4	4	2	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr9:139818449G>A	uc004cjv.3	+	9	1341	c.1284G>A	c.(1282-1284)caG>caA	p.Q428Q	TRAF2_uc010nbu.3_Silent_p.Q428Q|TRAF2_uc011mek.2_Silent_p.Q417Q|TRAF2_uc010nbw.3_Silent_p.Q403Q	NM_021138	NP_066961	Q12933	TRAF2_HUMAN	Homo sapiens TNF receptor-associated factor 2 (TRAF2), mRNA.	428	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CCTTCAACCAGAAGGTGAGGC	0.647													A	139818449	G	A	139818449	2	1	171	1	0	0	0	0	0	0	0	1	16539	933	33	2		2	TRAF2	9	139818449	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08	42416901	139818449	1394982	30	11956											
CAMK1D	57118	broad.mit.edu	37	chr10	12802954	12802954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttttgccagggtgtccGgtggagagctgtttgaccgg	4	14	15	8	2	1	2	0	1	1	1	2	3	2	2	3	4	2	2	3	4	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:12802954G>A	uc001ilo.3	+	3	542	c.307G>A	c.(307-309)Ggt>Agt	p.G103S	CAMK1D_uc001iln.3_Missense_Mutation_p.G103S	NM_153498	NP_705718	Q8IU85	KCC1D_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase ID (CAMK1D), transcript variant 2, mRNA.	103	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CAGGGTGTCCGGTGGAGAGCT	0.443													A	12802954	G	A	12802954	3	1	171	1	0	0	0	0	1	0	0	0	2623	1116	39	1	321	1	CAMK1D	10	12802954	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		12802954	122731793	31	11957											
C10orf76	79591	broad.mit.edu	37	chr10	103716424	103716424	+	Frame_Shift_Del	DEL	G	G	-																															taaagttcatcatagctgctGggggttggcagaaatgtgtc																										TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr10:103716424delG	uc009xwy.1	-	21	1737	c.1635delC	c.(1633-1635)cccfs	p.P545fs	C10orf76_uc009xwx.1_Non-coding_Transcript	NM_024541	NP_078817	Q5T2E6	CJ076_HUMAN	Homo sapiens chromosome 10 open reading frame 76 (C10orf76), mRNA.	545						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATAGCTGCTGGGGGTTGGCA	0.408													-	103716424	G	-	103716424	7	5	171	1	0	1	0	1	0	0	0	0	1627	1335	47	0	454	0	C10orf76	10	103716424	Frame_Shift_Del	DEL	G	TCGA-19-5960-01A-11D-1696-08	90913470	103716424	31818323	32	11958											
OR52M1	119772	broad.mit.edu	37	chr11	4566796	4566796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggcttttgatcgctacGtggccatctgcaacccacta	8	11	8	14	2	1	1	0	1	1	0	2	1	1	1	3	2	3	3	3	2	3	4	rs61751910	byFrequency	TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:4566796G>A	uc010qyf.2	+	0	376	c.376G>A	c.(376-378)Gtg>Atg	p.V126M		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGATCGCTACGTGGCCATCTG	0.527													A	4566796	G	A	4566796	3	1	171	1	0	0	0	0	1	0	0	0	11202	1145	40	1	378	1	OR52M1	11	4566796	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		4566796	130439720	33	11959											
GLYAT	10249	broad.mit.edu	37	chr11	58478160	58478160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgccatatagagaatgcGttgtgtttgtttgactttga	9	16	11	5	1	0	3	0	2	0	1	0	4	0	3	1	0	3	4	1	0	3	6			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:58478160G>A	uc001nnb.3	-	4	546	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	GLYAT_uc001nnc.3_Missense_Mutation_p.R131C	NM_201648	NP_964011	Q6IB77	GLYAT_HUMAN	Homo sapiens glycine-N-acyltransferase (GLYAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	131					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity	p.R131C(2)		NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TAGAGAATGCGTTGTGTTTGT	0.428													A	58478160	G	A	58478160	3	1	171	1	0	0	0	0	1	0	0	0	6535	1145	40	1	511	1	GLYAT	11	58478160	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	53911364	58478160	76528356	34	11960											
GPR83	10888	broad.mit.edu	37	chr11	94113665	94113665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggacgtagcagttgaGggggaaccagcagagggcaa	13	3	19	6	1	0	2	0	1	0	1	0	6	0	5	1	5	3	5	1	5	3	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:94113665G>A	uc001pet.2	-	3	1094	c.922C>T	c.(922-924)Ctc>Ttc	p.L308F		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	308						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TAGCAGTTGAGGGGGAACCAG	0.532													A	94113665	G	A	94113665	3	1	171	1	0	0	0	0	1	0	0	0	6767	1000	35	2	353	2	GPR83	11	94113665	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	35635505	94113665	40892851	35	11961											
MPZL2	10205	broad.mit.edu	37	chr11	118133277	118133277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagaaggatggaggcatcGtaccgctcaggattcccatc	11	7	12	11	2	1	1	1	0	0	1	4	5	2	4	2	4	1	3	2	4	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:118133277G>A	uc001psn.3	-	2	695	c.312C>T	c.(310-312)taC>taT	p.Y104Y	MPZL2_uc001pso.3_Silent_p.Y104Y	NM_005797	NP_658911	O60487	MPZL2_HUMAN	Homo sapiens myelin protein zero-like 2 (MPZL2), transcript variant 1, mRNA.	104	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane		p.R103Q(1)|p.Y104H(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TGGAGGCATCGTACCGCTCAG	0.527													A	118133277	G	A	118133277	2	1	171	1	0	0	0	0	0	0	0	1	9826	1140	40	1		1	MPZL2	11	118133277	Silent	SNP	G	TCGA-19-5960-01A-11D-1696-08	24019612	118133277	16873239	36	11962											
FLI1	2313	broad.mit.edu	37	chr11	128680531	128680531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaattacgacaagctgaGccgggccctccgttattact	10	10	9	12	3	0	2	0	2	0	0	1	3	1	2	3	1	4	2	3	1	5	3			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr11:128680531G>T	uc010sbu.2	+	8	1350	c.1007G>T	c.(1006-1008)aGc>aTc	p.S336I	FLI1_uc010sbt.2_Missense_Mutation_p.S143I|FLI1_uc010sbv.2_Missense_Mutation_p.S303I|FLI1_uc009zci.3_Missense_Mutation_p.S270I	NM_002017	NP_001161153	Q01543	FLI1_HUMAN	Homo sapiens Friend leukemia virus integration 1 (FLI1), transcript variant 1, mRNA.	336					hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GACAAGCTGAGCCGGGCCCTC	0.522			T	EWSR1	Ewing sarcoma								T	128680531	G	T	128680531	3	4	171	1	0	0	0	0	1	0	0	0	5973	971	34	4	1041	4	FLI1	11	128680531	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08	10547254	128680531	6325985	37	11963											
RASSF9	9182	broad.mit.edu	37	chr12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatcagcagaggtggtgcGtttagtcagcccacagacaa	12	7	12	10	1	2	2	2	0	0	2	2	3	2	2	1	2	3	2	1	2	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr12:86199652G>A	uc001taf.1	-	1	475	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	46	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453													A	86199652	G	A	86199652	3	1	171	1	0	0	0	0	1	0	0	0	13181	1145	40	1	1175	1	RASSF9	12	86199652	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		86199652	47652243	38	11964											
DCLK1	9201	broad.mit.edu	37	chr13	36700120	36700120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttcttggccttcttctcgGagctgagcgtctgcagcgtg	3	14	12	12	3	4	1	0	1	4	0	5	2	4	2	1	2	4	2	1	2	0	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:36700120G>T	uc001uvf.3	-	1	438	c.155C>A	c.(154-156)tCc>tAc	p.S52Y		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	52					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CTTCTTCTCGGAGCTGAGCGT	0.582													T	36700120	G	T	36700120	3	4	171	1	0	0	0	0	1	0	0	0	4325	1174	41	4	2102	4	DCLK1	13	36700120	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		36700120	78469758	39	11965											
SLITRK5	26050	broad.mit.edu	37	chr13	88329407	88329407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgggcgtcctagtggaCgaggtgatctgtaaggcgcc	9	8	16	8	3	1	1	0	1	1	0	2	3	2	2	2	4	0	1	2	4	3	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:88329407C>T	uc001vln.3	+	1	1983	c.1764C>T	c.(1762-1764)gaC>gaT	p.D588D	SLITRK5_uc010tic.1_Silent_p.D347D|SLITRK5_uc021rlc.1_Silent_p.D588D	NM_015567	NP_056382	O94991	SLIK5_HUMAN	Homo sapiens SLIT and NTRK-like family, member 5 (SLITRK5), mRNA.	588	LRRCT 2.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TCCTAGTGGACGAGGTGATCT	0.512													T	88329407	C	T	88329407	2	4	171	1	0	0	0	0	0	0	0	1	14840	535	19	1		1	SLITRK5	13	88329407	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08	51629287	88329407	26840471	40	11966											
CLYBL	171425	broad.mit.edu	37	chr13	100515267	100515267	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacaaattttcattccActtaaaaggccgaaaacttg	15	11	6	9	1	1	1	1	0	0	1	2	2	2	1	2	1	2	1	2	1	5	5			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr13:100515267A>G	uc001vok.3	+	3	492	c.461A>G	c.(460-462)cAc>cGc	p.H154R	CLYBL_uc010tix.2_Missense_Mutation_p.H154R|CLYBL_uc010tiy.2_Intron	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	154					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding	p.F153F(1)		NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTCATTCCACTTAAAAGGC	0.358													G	100515267	A	G	100515267	3	3	171	1	0	0	0	0	1	0	0	0	3604	159	6	3	475	3	CLYBL	13	100515267	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08	12185860	100515267	14654611	41	11967											
TEKT5	146279	broad.mit.edu	37	chr16	10783110	10783110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaaaaaaagcccttacCgcatctggatatcaattctt	18	10	4	9	1	3	0	1	0	2	0	3	1	3	1	2	1	2	1	2	1	9	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr16:10783110C>T	uc002czz.1	-	3	791	c.719_splice	c.e3+1	p.R240_splice		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	240					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCCCTTACCGCATCTGGAT	0.413													T	10783110	C	T	10783110	3	4	171	1	0	0	0	0	1	0	0	0	15856	666	23	1	758	1	TEKT5	16	10783110	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		10783110	79571643	42	11968											
RECQL5	9400	broad.mit.edu	37	chr17	73625102	73625102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccctgtgtacttctctgGggccatcgggggtccctgaa	4	11	12	14	1	1	1	0	1	1	0	5	1	3	1	4	4	1	1	4	4	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr17:73625102G>A	uc010dgl.3	-	15	2610	c.2401C>T	c.(2401-2403)Cca>Tca	p.P801S	RECQL5_uc010dgk.3_Missense_Mutation_p.P774S|RECQL5_uc002jot.4_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	801					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TACTTCTCTGGGGCCATCGGG	0.647								Other identified genes with known or suspected DNA repair function					A	73625102	G	A	73625102	3	1	171	1	0	0	0	0	1	0	0	0	13291	1232	43	2	594	2	RECQL5	17	73625102	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		73625102	7570108	43	11969											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60036664	60036664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggctcccaagctcagCgagggcaggtgccgggtctg	6	6	18	11	2	2	0	1	0	1	0	3	2	3	1	2	5	3	3	2	5	1	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr18:60036664C>T	uc002lin.3	+	8	1552	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	TNFRSF11A_uc010dpv.3_Intron	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	505					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCAAGCTCAGCGAGGGCAGGT	0.632													T	60036664	C	T	60036664	3	4	171	1	0	0	0	0	1	0	0	0	16384	768	27	1	1548	1	TNFRSF11A	18	60036664	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		60036664	18040584	44	11970											
CREB3L3	84699	broad.mit.edu	37	chr19	4171806	4171806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcttccaggacaccgCgaacctgaccaattcgacgg	9	6	12	14	4	0	1	0	1	0	0	2	4	1	2	4	4	1	1	4	4	2	2	rs148141076		TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:4171806C>T	uc002lzl.3	+	9	1342	c.1226C>T	c.(1225-1227)gCg>gTg	p.A409V	CREB3L3_uc002lzm.3_Missense_Mutation_p.A399V|CREB3L3_uc010xib.2_Missense_Mutation_p.A398V|CREB3L3_uc010xic.2_3'UTR	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	409					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGACACCGCGAACCTGACC	0.677													T	4171806	C	T	4171806	3	4	171	1	0	0	0	0	1	0	0	0	3889	768	27	1	1264	1	CREB3L3	19	4171806	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		4171806	54957177	45	11971											
LILRB3	79168	broad.mit.edu	37	chr19	54744788	54744788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatagcacctgtactggcCcccgtgggaggggctcacag	8	6	13	14	1	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	2	2			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr19:54744788C>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.G292S|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.G292S|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.G292S|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.G292S|LILRB3_uc010yep.1_Missense_Mutation_p.G292S|LILRB3_uc010yeq.1_Missense_Mutation_p.G292S|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.G292S|LILRB3_uc002qev.1_Missense_Mutation_p.G153S	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGTACTGGCCCCCGTGGGAG	0.682													T	54744788	C	T	54744788	3	4	171	1	0	0	0	0	1	0	0	0	8852	623	22	2		2	LILRB3	19	54744788	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08	50572982	54744788	4384195	46	11972											
ADNP	23394	broad.mit.edu	37	chr20	49508976	49508976	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcataggaatcatcttcatGacccttggggtctaaagcta	11	13	8	9	0	5	1	3	1	2	0	5	2	5	2	1	3	1	1	1	3	5	6			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:49508976G>T	uc002xvt.1	-	4	2620	c.2275C>A	c.(2275-2277)Cat>Aat	p.H759N	ADNP_uc002xvu.1_Missense_Mutation_p.H759N	NM_015339	NP_852107	Q9H2P0	ADNP_HUMAN	Homo sapiens activity-dependent neuroprotector homeobox (ADNP), transcript variant 1, mRNA.	759						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCATCTTCATGACCCTTGGGG	0.418													T	49508976	G	T	49508976	3	4	171	1	0	0	0	0	1	0	0	0	323	1290	45	4	1037	4	ADNP	20	49508976	Missense_Mutation	SNP	G	TCGA-19-5960-01A-11D-1696-08		49508976	13516544	47	11973											
ATP9A	10079	broad.mit.edu	37	chr20	50313988	50313988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacgatgataaggtctccaActtggatgttagaactcttc	12	12	8	9	1	2	2	0	1	2	1	4	4	2	3	1	2	3	1	1	2	5	4			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr20:50313988A>G	uc002xwg.1	-	4	470	c.470T>C	c.(469-471)gTt>gCt	p.V157A	ATP9A_uc010gih.1_Intron|ATP9A_uc002xwf.1_5'UTR	NM_006045	NP_006036	O75110	ATP9A_HUMAN	Homo sapiens ATPase, class II, type 9A (ATP9A), mRNA.	157					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AAGGTCTCCAACTTGGATGTT	0.418													G	50313988	A	G	50313988	3	3	171	1	0	0	0	0	1	0	0	0	1203	43	2	3	2769	3	ATP9A	20	50313988	Missense_Mutation	SNP	A	TCGA-19-5960-01A-11D-1696-08	805012	50313988	12711532	48	11974											
RCAN1	1827	broad.mit.edu	37	chr21	35890504	35890504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcactctcacatacatggaCcaccacgctgggagtggtgt	10	9	10	12	1	2	0	2	0	1	0	3	2	2	2	2	3	1	1	2	3	1	1			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr21:35890504C>T	uc002yue.3	-	3	709	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	RCAN1_uc002yuc.3_Missense_Mutation_p.V132I|RCAN1_uc002yud.3_Missense_Mutation_p.V78I|RCAN1_uc002yub.3_Missense_Mutation_p.V158I	NM_004414	NP_004405	P53805	RCAN1_HUMAN	Homo sapiens regulator of calcineurin 1 (RCAN1), transcript variant 1, mRNA.	213					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						CATACATGGACCACCACGCTG	0.493													T	35890504	C	T	35890504	3	4	171	1	0	0	0	0	1	0	0	0	13256	507	18	2	125	2	RCAN1	21	35890504	Missense_Mutation	SNP	C	TCGA-19-5960-01A-11D-1696-08		35890504	12239391	49	11975											
ZDHHC8	29801	broad.mit.edu	37	chr22	20131184	20131184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcctgccctccccgccCggcactccccactcaccatc	5	5	7	24	2	1	0	1	0	0	0	4	0	3	0	8	2	1	1	8	2	0	0			TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chr22:20131184C>T	uc002zrr.2	+	9	2138	c.2031C>T	c.(2029-2031)ccC>ccT	p.P677P	ZDHHC8_uc002zrq.3_Silent_p.P677P|ZDHHC8_uc010gsa.3_Silent_p.P483P	NM_001185024	NP_001171953	Q9ULC8	ZDHC8_HUMAN	Homo sapiens zinc finger, DHHC-type containing 8 (ZDHHC8), transcript variant 1, mRNA.	677						cytoplasmic vesicle membrane|integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	20	Colorectal(54;0.0993)					CCTCCCCGCCCGGCACTCCCC	0.716													T	20131184	C	T	20131184	2	4	171	1	0	0	0	0	0	0	0	1	17722	639	23	1		1	ZDHHC8	22	20131184	Silent	SNP	C	TCGA-19-5960-01A-11D-1696-08		20131184	31173382	50	11976											
PCDH19	57526	broad.mit.edu	37	chrX	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-																															gcctgcgtccacagtatggcCagcagcagcagcaccggcag																										TCGA-19-5960-01A-11D-1696-08	TCGA-19-5960-11A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8151614-b08f-49a3-ab6f-2e780f765a17	6550b1a6-606e-478b-8332-3836c47a6b84	g.chrX:99663560_99663562delCAG	uc010nmz.3	-	0	1710_1712	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_uc004efw.4_In_Frame_Del_p.L12del|PCDH19_uc004efx.4_In_Frame_Del_p.L12del	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													-	99663562	CAG	-	99663560	7	5	171	1	0	1	0	1	0	0	0	0	11590	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-19-5960-01A-11D-1696-08		99663560	55607000	51	11977											
TTLL10	254173	broad.mit.edu	37	chr1	1120451	1120451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacacgttctggaaggccCggggcctcgccaaggactgg	7	6	16	12	3	1	1	0	1	1	0	2	3	1	3	3	6	0	1	3	6	2	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:1120451C>T	uc001acy.2	+	12	1514	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W	TTLL10_uc010nyg.1_Missense_Mutation_p.R455W|TTLL10_uc001acz.2_Missense_Mutation_p.R382W	NM_001130045	NP_001123517	Q6ZVT0	TTL10_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 10 (TTLL10), transcript variant 1, mRNA.	455	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGGAAGGCCCGGGGCCTCGC	0.612													T	1120451	C	T	1120451	3	4	172	1	0	0	0	0	1	0	0	0	16825	643	23	1	1401	1	TTLL10	1	1120451	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		1120451	248130170	1	11978											
ADC	113451	broad.mit.edu	37	chr1	33583680	33583681	+	Frame_Shift_Ins	INS	-	-	C																															ccccttttgggggacccaggINScctgccacatcacctatgcc																										TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:33583680_33583681insC	uc009vug.3	+	7	1339_1340	c.1267_1268insC	c.(1267-1269)gccfs	p.A423fs	ADC_uc001bwr.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bws.3_Frame_Shift_Ins_p.A403fs|ADC_uc009vue.3_Frame_Shift_Ins_p.A403fs|ADC_uc001bwt.1_Frame_Shift_Ins_p.A308fs|ADC_uc001bwu.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwv.3_Frame_Shift_Ins_p.A308fs|ADC_uc001bwx.1_Frame_Shift_Ins_p.A380fs	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	403					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	GGGGACCCAGGCCTGCCACATC	0.614													C	33583681	-	C	33583680	7	5	172	1	0	1	1	0	0	0	0	0	287	1203	42	0	1237	0	ADC	1	33583680	Frame_Shift_Ins	INS	-	TCGA-26-1439-01A-01D-1353-08	32463229	33583680	215666941	2	11979											
TCHH	7062	broad.mit.edu	37	chr1	152081494	152081494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgctcgcgctcctggcagCgcagctgctgttcctcctta	3	12	11	15	3	0	0	0	0	0	0	4	0	3	0	3	1	4	8	3	1	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:152081494C>T	uc009wne.1	-	2	4471	c.4199G>A	c.(4198-4200)cGc>cAc	p.R1400H	TCHH_uc001ezp.2_Missense_Mutation_p.R1400H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1400	23 X 26 AA approximate tandem repeats.		R -> P (found in a renal cell carcinoma sample; somatic mutation).		keratinization	cytoskeleton	calcium ion binding	p.R1400P(2)		NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGCAGCGCAGCTGCTG	0.587													T	152081494	C	T	152081494	3	4	172	1	0	0	0	0	1	0	0	0	15800	768	27	1	1636	1	TCHH	1	152081494	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	118497814	152081494	97169127	3	11980											
PCP4L1	654790	broad.mit.edu	37	chr1	161253488	161253488	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatccccagcaaccaacCaggcagctggccaagaggaa	16	2	9	14	0	0	1	0	0	0	1	1	2	1	2	5	3	5	3	5	3	5	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:161253488C>T	uc001gad.3	+	1	288	c.40C>T	c.(40-42)Cag>Tag	p.Q14*		NM_001102566	NP_001096036	A6NKN8	PC4L1_HUMAN	Homo sapiens Purkinje cell protein 4 like 1 (PCP4L1), mRNA.	14										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(52;4.16e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGCAACCAACCAGGCAGCTGG	0.428													T	161253488	C	T	161253488	4	4	172	1	0	0	0	0	0	1	0	0	11675	595	21	2	46	2	PCP4L1	1	161253488	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	9171994	161253488	87997133	4	11981											
NMNAT2	23057	broad.mit.edu	37	chr1	183261948	183261948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaatcagaattctggacGgccagctgacacatgatgag	13	8	10	10	1	2	4	1	3	1	1	3	5	3	5	2	2	1	1	2	2	2	1	rs138225647		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr1:183261948G>A	uc001gqc.2	-	2	451	c.219C>T	c.(217-219)gcC>gcT	p.A73A	NMNAT2_uc001gqb.2_Silent_p.A68A|NMNAT2_uc001gqd.3_5'Flank	NM_015039	NP_055854	Q9BZQ4	NMNA2_HUMAN	Homo sapiens nicotinamide nucleotide adenylyltransferase 2 (NMNAT2), transcript variant 1, mRNA.	73					water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						AATTCTGGACGGCCAGCTGAC	0.562													A	183261948	G	A	183261948	2	1	172	1	0	0	0	0	0	0	0	1	10575	1103	39	1		1	NMNAT2	1	183261948	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	22008460	183261948	65988673	5	11982											
MFSD2B	388931	broad.mit.edu	37	chr2	24247038	24247038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaaagtcctcattggcGccgtgcccacctgcatgatc	7	9	8	17	2	2	1	2	1	0	0	4	1	3	1	5	1	2	1	5	1	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:24247038G>A	uc002reo.2	+	12	1401	c.1387G>A	c.(1387-1389)Gcc>Acc	p.A463T		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	463					transport	integral to membrane		p.A463T(1)		cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCTCATTGGCGCCGTGCCCAC	0.607													A	24247038	G	A	24247038	3	1	172	1	0	0	0	0	1	0	0	0	9606	1087	38	1	1437	1	MFSD2B	2	24247038	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		24247038	218952335	6	11983											
VAX2	25806	broad.mit.edu	37	chr2	71160172	71160172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgtcctcggcctcagcGtcccccccactgccgccccc	2	6	8	25	4	1	0	1	0	0	0	4	0	3	0	9	1	2	1	9	1	0	0	rs144443163	byFrequency	TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:71160172G>A	uc002shh.3	+	2	743	c.711G>A	c.(709-711)gcG>gcA	p.A237A	ATP6V1B1_uc002shi.1_5'Flank|ATP6V1B1_uc002shj.3_5'Flank	NM_012476	NP_036608	Q9UIW0	VAX2_HUMAN	Homo sapiens ventral anterior homeobox 2 (VAX2), mRNA.	237					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						CGGCCTCAGCGTCCCCCCCAC	0.692													A	71160172	G	A	71160172	2	1	172	1	0	0	0	0	0	0	0	1	17237	1132	40	1		1	VAX2	2	71160172	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	46913134	71160172	172039201	7	11984											
EXOC6B	23233	broad.mit.edu	37	chr2	72692422	72692422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggaactggtcaatcttcTggtttaagttggtataaatc	11	15	10	5	0	3	0	1	0	2	0	4	1	3	1	0	4	1	4	0	4	7	7			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr2:72692422T>A	uc010fep.3	-	17	1985	c.1847A>T	c.(1846-1848)cAg>cTg	p.Q616L	EXOC6B_uc002sij.2_Missense_Mutation_p.Q616L	NM_015189	NP_056004	Q9Y2D4	EXC6B_HUMAN	Homo sapiens exocyst complex component 6B (EXOC6B), mRNA.	616					protein transport|vesicle docking involved in exocytosis	exocyst				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GTCAATCTTCTGGTTTAAGTT	0.393													A	72692422	T	A	72692422	3	1	172	1	0	0	0	0	1	0	0	0	5350	1580	55	5	608	5	EXOC6B	2	72692422	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08	1532250	72692422	170506951	8	11985											
SUSD5	26032	broad.mit.edu	37	chr3	33194868	33194868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagggtgctactcttgggcTtcttaacttccacaagaatg	9	13	10	9	0	2	2	0	1	2	1	3	2	3	2	1	2	3	2	1	2	4	5			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr3:33194868T>C	uc003cfo.1	-	4	1674	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	419					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACTCTTGGGCTTCTTAACTTC	0.517													C	33194868	T	C	33194868	3	2	172	1	0	0	0	0	1	0	0	0	15507	1609	56	3	637	3	SUSD5	3	33194868	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08		33194868	164827562	9	11986											
DCHS2	54798	broad.mit.edu	37	chr4	155219800	155219800	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcccggtccaaagcaCgagtggttgagagttctcct	7	12	11	11	2	1	1	0	1	1	1	4	3	3	1	3	2	2	4	3	2	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155219800C>G	uc003inw.2	-	17	4301	c.4301G>C	c.(4300-4302)cGt>cCt	p.R1434P		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1434	Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R1434S(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393													G	155219800	C	G	155219800	3	3	172	1	0	0	0	0	1	0	0	0	4322	536	19	4	4481	4	DCHS2	4	155219800	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		155219800	35934476	10	11987											
DCHS2	54798	broad.mit.edu	37	chr4	155242236	155242236	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaacaatactaaaatgtaActttccattataatgttgtt	15	16	4	6	0	0	0	0	0	0	0	1	0	1	0	1	0	4	4	1	0	8	8			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr4:155242236A>G	uc003inw.2	-	13	2950	c.2950T>C	c.(2950-2952)Tta>Cta	p.L984L		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	984	Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTAAAATGTAACTTTCCATTA	0.328													G	155242236	A	G	155242236	2	3	172	1	0	0	0	0	0	0	0	1	4322	40	2	3		3	DCHS2	4	155242236	Silent	SNP	A	TCGA-26-1439-01A-01D-1353-08	22436	155242236	35912040	11	11988											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058241	41058241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccagggcgtatccaCggaagtcttcccgatgcagc	7	7	12	15	3	1	0	0	0	1	0	3	2	3	1	4	3	2	2	4	3	2	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:41058241C>T	uc003jmj.4	-	6	1170	c.680G>A	c.(679-681)cGt>cAt	p.R227H	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.R227H	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	227							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						GGCGTATCCACGGAAGTCTTC	0.517													T	41058241	C	T	41058241	3	4	172	1	0	0	0	0	1	0	0	0	7090	536	19	1	4221	1	HEATR7B2	5	41058241	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		41058241	139857019	12	11989											
MAST4	375449	broad.mit.edu	37	chr5	66460510	66460510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcccaagtggtgacGtgagggcctctgtgccacca	7	6	13	15	1	1	2	0	2	1	0	1	2	1	2	6	2	2	0	6	2	1	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:66460510G>A	uc021xzk.1	+	28	5811	c.5503G>A	c.(5503-5505)Gtg>Atg	p.V1835M	MAST4_uc003jut.2_Missense_Mutation_p.V1646M|MAST4_uc003juw.3_Missense_Mutation_p.V1574M|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1838						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AAGTGGTGACGTGAGGGCCTC	0.562													A	66460510	G	A	66460510	3	1	172	1	0	0	0	0	1	0	0	0	9402	1145	40	1	5747	1	MAST4	5	66460510	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	25402269	66460510	114454750	13	11990											
TRPC7	57113	broad.mit.edu	37	chr5	135692416	135692416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgccagtcctttgtaggcGttcatgcgcgagcgcgagtg	5	10	14	12	6	1	0	1	0	0	0	3	2	2	0	2	1	2	2	2	1	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:135692416G>A	uc003lbn.2	-	1	882	c.660C>T	c.(658-660)aaC>aaT	p.N220N	TRPC7_uc010jef.2_Silent_p.N211N|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.N220N|TRPC7_uc010jei.2_Silent_p.N220N	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	220					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.N220N(3)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CTTTGTAGGCGTTCATGCGCG	0.607													A	135692416	G	A	135692416	2	1	172	1	0	0	0	0	0	0	0	1	16685	1136	40	1		1	TRPC7	5	135692416	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	69231906	135692416	45222844	14	11991											
LRRTM2	26045	broad.mit.edu	37	chr5	138209080	138209081	+	Frame_Shift_Ins	INS	-	-	T																															tttctttgtctcccacatggINStaacttgatgagcttattct																										TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:138209080_138209081insT	uc011cyz.1	-	1	1626_1627	c.1169_1170insA	c.(1168-1170)tacfs	p.Y390fs	CTNNA1_uc003ldh.3_Intron|CTNNA1_uc011cyx.2_Intron|CTNNA1_uc011cyy.2_Intron|CTNNA1_uc003ldi.3_Intron|CTNNA1_uc003ldj.3_Intron|LRRTM2_uc010jez.2_Intron|LRRTM2_uc011cza.1_Frame_Shift_Ins_p.Y256fs|CTNNA1_uc003ldl.3_5'Flank	NM_015564	NP_056379	O43300	LRRT2_HUMAN	Homo sapiens leucine rich repeat transmembrane neuronal 2 (LRRTM2), mRNA.	390						cell junction|integral to membrane|postsynaptic membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|urinary_tract(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCCCACATGGTAACTTGATGA	0.431													T	138209081	-	T	138209080	7	5	172	1	0	1	1	0	0	0	0	0	9110	1256	44	0	384	0	LRRTM2	5	138209080	Frame_Shift_Ins	INS	-	TCGA-26-1439-01A-01D-1353-08	2516664	138209080	42706180	15	11992											
PCDHAC2	9752	broad.mit.edu	37	chr5	140229393	140229393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccttcactgtgggccaCggccagggtgtctgtggagg	4	9	16	12	2	2	0	1	0	1	0	3	1	2	1	3	5	0	0	3	5	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr5:140229393C>T	uc003lhu.2	+	0	2037	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Missense_Mutation_p.T438M	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	452	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGCCACGGCCAGGGTG	0.657													T	140229393	C	T	140229393	3	4	172	1	0	0	0	0	1	0	0	0	11609	536	19	1		1	PCDHAC2	5	140229393	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	2020313	140229393	40685867	16	11993											
RUNX2	860	broad.mit.edu	37	chr6	45390685	45390685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaacaagaccctgcccgtGgccttcaaggtaagaggcta	11	7	11	12	1	1	2	1	0	0	2	1	2	1	2	3	3	3	3	3	3	5	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr6:45390685G>A	uc011dvx.2	+	2	624	c.414G>A	c.(412-414)gtG>gtA	p.V138V	RUNX2_uc011dvy.2_Silent_p.V138V|RUNX2_uc003oxt.3_Silent_p.V124V	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN	Homo sapiens runt-related transcription factor 2 (RUNX2), transcript variant 1, mRNA.	138	Runt.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CCCTGCCCGTGGCCTTCAAGG	0.721													A	45390685	G	A	45390685	2	1	172	1	0	0	0	0	0	0	0	1	13839	1335	47	2		2	RUNX2	6	45390685	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08		45390685	125724382	17	11994											
DBNL	28988	broad.mit.edu	37	chr7	44100419	44100419	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgagaacctcatcacGggcatcgaggtgatcgacga	11	5	12	13	5	2	2	2	1	0	1	4	7	2	2	3	2	1	1	3	2	1	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:44100419G>T	uc003tjp.4	+	12	1295	c.1197G>T	c.(1195-1197)acG>acT	p.T399T	DBNL_uc003tjo.4_Silent_p.T400T|DBNL_uc003tjq.4_Silent_p.T408T|DBNL_uc011kbm.2_Silent_p.T375T|DBNL_uc011kbo.2_Silent_p.T300T|DBNL_uc011kbp.2_Silent_p.T351T|DBNL_uc011kbq.2_Silent_p.T324T|DBNL_uc011kbn.2_Silent_p.T296T|DBNL_uc011kbr.2_Silent_p.T348T|DBNL_uc011kbs.2_Silent_p.T304T	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN	Homo sapiens drebrin-like (DBNL), transcript variant 2, mRNA.	399	SH3.				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						ACCTCATCACGGGCATCGAGG	0.587													T	44100419	G	T	44100419	2	4	172	1	0	0	0	0	0	0	0	1	4289	1103	39	4		4	DBNL	7	44100419	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08		44100419	115038244	18	11995											
POM121L12	285877	broad.mit.edu	37	chr7	53103950	53103950	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgctaggttcgacgggccgTtgtggttcgaggtctcagac	5	10	16	10	5	1	1	1	0	1	1	4	3	1	1	1	4	0	4	1	4	1	4			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:53103950T>C	uc003tpz.3	+	0	602	c.586T>C	c.(586-588)Ttg>Ctg	p.L196L		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	196								p.P195P(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGACGGGCCGTTGTGGTTCGA	0.677													C	53103950	T	C	53103950	2	2	172	1	0	0	0	0	0	0	0	1	12318	1722	60	3		3	POM121L12	7	53103950	Silent	SNP	T	TCGA-26-1439-01A-01D-1353-08	9003531	53103950	106034713	19	11996											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	172	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	2129093	55233043	103905620	20	11997											
ADAM22	53616	broad.mit.edu	37	chr7	87760639	87760639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgctatggaaacctgggCgactgacaacaagtttgcca	11	9	12	9	1	0	1	0	1	0	0	0	3	0	2	2	3	4	3	2	3	4	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:87760639C>T	uc003ujn.3	+	10	1096	c.881C>T	c.(880-882)gCg>gTg	p.A294V	ADAM22_uc003ujj.2_Missense_Mutation_p.A294V|ADAM22_uc003ujk.2_Missense_Mutation_p.A294V|ADAM22_uc003ujl.2_Missense_Mutation_p.A294V|ADAM22_uc003ujm.3_Missense_Mutation_p.A294V|ADAM22_uc003ujo.3_Missense_Mutation_p.A294V|ADAM22_uc003ujp.1_Missense_Mutation_p.A346V	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	294	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCTGGGCGACTGACAAC	0.358													T	87760639	C	T	87760639	3	4	172	1	0	0	0	0	1	0	0	0	244	768	27	1	923	1	ADAM22	7	87760639	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	32527596	87760639	71378024	21	11998											
EPHB4	2050	broad.mit.edu	37	chr7	100404060	100404060	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtcctgattgctcatgtcCcagtacggcctctccccaaa	8	10	7	16	2	2	1	1	1	1	0	5	1	4	1	5	1	2	2	5	1	2	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr7:100404060C>T	uc003uwn.1	-	13	2957	c.2466G>A	c.(2464-2466)tgG>tgA	p.W822*	EPHB4_uc003uwm.1_Nonsense_Mutation_p.W729*|EPHB4_uc010lhj.1_Nonsense_Mutation_p.W822*	NM_004444	NP_004435	P54760	EPHB4_HUMAN	Homo sapiens EPH receptor B4 (EPHB4), mRNA.	822	Protein kinase.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGCTCATGTCCCAGTACGGCC	0.562													T	100404060	C	T	100404060	4	4	172	1	0	0	0	0	0	1	0	0	5218	624	22	2	513	2	EPHB4	7	100404060	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	12643421	100404060	58734603	22	11999											
TAF2	6873	broad.mit.edu	37	chr8	120774701	120774701	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagaagtttttccatatTcaaaaatctggtgatttctt	12	16	7	6	1	3	2	1	1	2	1	4	3	4	3	1	2	0	1	1	2	5	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:120774701T>G	uc003you.3	-	18	2782	c.2512A>C	c.(2512-2514)Aat>Cat	p.N838H		NM_003184	NP_003175	Q6P1X5	TAF2_HUMAN	Homo sapiens TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa (TAF2), mRNA.	838					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTTTCCATATTCAAAAATCTG	0.333													G	120774701	T	G	120774701	3	3	172	1	0	0	0	0	1	0	0	0	15621	1783	62	5	1119	5	TAF2	8	120774701	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08		120774701	25589321	23	12000											
FLJ43860	389690	broad.mit.edu	37	chr8	142505515	142505515	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagccatgttcttgatctTcttgatgatgtacttcaagt	9	17	8	7	0	4	4	1	4	3	0	4	4	4	4	1	0	2	2	1	0	2	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:142505515T>C	uc003ywi.2	-	2	412	c.331A>G	c.(331-333)Aag>Gag	p.K111E	FLJ43860_uc011ljs.1_5'Flank|FLJ43860_uc010meu.1_5'Flank	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	111							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			TTCTTGATCTTCTTGATGATG	0.527													C	142505515	T	C	142505515	3	2	172	1	0	0	0	0	1	0	0	0	5979	1792	62	3	3737	3	FLJ43860	8	142505515	Missense_Mutation	SNP	T	TCGA-26-1439-01A-01D-1353-08	21730814	142505515	3858507	24	12001											
PLEC	5339	broad.mit.edu	37	chr8	144993831	144993831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcgcctccagcaggagCgcagccgttgtggctctcag	5	7	14	15	3	1	0	1	0	1	0	3	1	2	1	4	2	4	4	4	2	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:144993831C>T	uc003zaf.1	-	31	10739	c.10569G>A	c.(10567-10569)gcG>gcA	p.A3523A	PLEC_uc003zab.1_Silent_p.A3386A|PLEC_uc003zac.1_Silent_p.A3390A|PLEC_uc003zad.2_Silent_p.A3386A|PLEC_uc003zae.1_Silent_p.A3354A|PLEC_uc003zag.1_Silent_p.A3364A|PLEC_uc003zah.2_Silent_p.A3372A|PLEC_uc003zaj.2_Silent_p.A3413A	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3523	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCAGCAGGAGCGCAGCCGTTG	0.692													T	144993831	C	T	144993831	2	4	172	1	0	0	0	0	0	0	0	1	12129	755	27	1		1	PLEC	8	144993831	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	2488316	144993831	1370191	25	12002											
FBXL6	26233	broad.mit.edu	37	chr8	145581939	145581939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgcgccgctgtgcgcgggGccgggcggggccgggttcgg	1	4	23	13	9	0	0	0	0	0	0	1	0	0	0	3	7	2	2	3	7	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr8:145581939G>A	uc003zcb.3	-	0	245	c.169C>T	c.(169-171)Ccc>Tcc	p.P57S	C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_5'Flank|FBXL6_uc003zca.3_Missense_Mutation_p.P57S|FBXL6_uc010mfx.3_5'UTR|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	57	F-box.				proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			tgtgcgcggggccgggcgggg	0.791													A	145581939	G	A	145581939	3	1	172	1	0	0	0	0	1	0	0	0	5772	1203	42	2	1486	2	FBXL6	8	145581939	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	588108	145581939	782083	26	12003											
DMRT3	58524	broad.mit.edu	37	chr9	977245	977245	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcagcaggccaacgagAgcttggagagcctcatcccc	9	4	13	15	2	1	2	1	0	0	2	2	4	2	2	5	3	4	3	5	3	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:977245A>G	uc003zgw.1	+	0	282	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	82					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		GGCCAACGAGAGCTTGGAGAG	0.731													G	977245	A	G	977245	3	3	172	1	0	0	0	0	1	0	0	0	4626	304	11	3	246	3	DMRT3	9	977245	Missense_Mutation	SNP	A	TCGA-26-1439-01A-01D-1353-08		977245	140236186	27	12004											
CACNA1B	774	broad.mit.edu	37	chr9	141014620	141014620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctttgcccacagcccGtcacagatgccagccccatg	8	7	8	18	1	1	1	1	0	0	1	2	1	2	1	6	0	4	0	6	0	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr9:141014620G>A	uc004cog.3	+	43	6173	c.6028G>A	c.(6028-6030)Gtc>Atc	p.V2010I	CACNA1B_uc022bqn.1_Missense_Mutation_p.V2010I|CACNA1B_uc004coi.3_Missense_Mutation_p.V1224I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	2012					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCCACAGCCCGTCACAGATGC	0.672													A	141014620	G	A	141014620	3	1	172	1	0	0	0	0	1	0	0	0	2565	1145	40	1	6208	1	CACNA1B	9	141014620	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	140037375	141014620	198811	28	12005											
AKR1C4	1109	broad.mit.edu	37	chr10	5254979	5254979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacccaaactccccagttCttttggaggacccagttctt	8	12	8	13	0	2	0	0	0	2	0	3	3	3	3	4	3	1	2	4	3	1	5			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:5254979C>A	uc001ihw.2	+	6	736	c.703C>A	c.(703-705)Ctt>Att	p.L235I		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	235					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	CTCCCCAGTTCTTTTGGAGGA	0.527													A	5254979	C	A	5254979	3	1	172	1	0	0	0	0	1	0	0	0	472	913	32	4	729	4	AKR1C4	10	5254979	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		5254979	130279768	29	12006											
HPS6	79803	broad.mit.edu	37	chr10	103825336	103825336	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcagcggtccgagtccgTggcagtccggacggccgcca	6	5	15	15	6	1	0	1	0	0	0	4	3	4	1	5	4	1	1	5	4	0	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr10:103825336T>C	uc001kuj.3	+	0	213	c.105T>C	c.(103-105)cgT>cgC	p.R35R		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	35						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TCCGAGTCCGTGGCAGTCCGG	0.756									Hermansky-Pudlak syndrome				C	103825336	T	C	103825336	2	2	172	1	0	0	0	0	0	0	0	1	7398	1683	59	3		3	HPS6	10	103825336	Silent	SNP	T	TCGA-26-1439-01A-01D-1353-08	98570357	103825336	31709411	30	12007											
NPAS4	266743	broad.mit.edu	37	chr11	66192484	66192484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatgttcctggaagagaCgcccgtggaagacatcttca	12	9	10	10	2	2	2	1	0	1	2	3	5	3	4	2	2	1	1	2	2	3	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:66192484C>T	uc001ohx.1	+	6	2299	c.2123C>T	c.(2122-2124)aCg>aTg	p.T708M	NPAS4_uc010rpc.1_Missense_Mutation_p.T498M	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	708					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGAAGAGACGCCCGTGGAA	0.612													T	66192484	C	T	66192484	3	4	172	1	0	0	0	0	1	0	0	0	10641	536	19	1	2149	1	NPAS4	11	66192484	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		66192484	68814032	31	12008											
CABP4	57010	broad.mit.edu	37	chr11	67225127	67225127	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgcacatgctgggggtgCgagagctgcgcatcgccttc	5	7	16	13	5	0	1	0	0	0	1	2	2	0	1	1	3	4	4	1	3	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:67225127C>T	uc001olo.3	+	3	702	c.625C>T	c.(625-627)Cga>Tga	p.R209*	CABP4_uc001oln.3_Nonsense_Mutation_p.R104*	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	209	EF-hand 3.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GCTGGGGGTGCGAGAGCTGCG	0.637													T	67225127	C	T	67225127	4	4	172	1	0	0	0	0	0	1	0	0	2559	760	27	1	639	1	CABP4	11	67225127	Nonsense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	1032643	67225127	67781389	32	12009											
SORL1	6653	broad.mit.edu	37	chr11	121424742	121424742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctctcaccgggctacGggcagcagtggccctggact	5	8	14	14	2	1	0	1	0	1	0	2	1	1	1	3	4	3	4	3	4	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr11:121424742G>A	uc001pxx.3	+	16	2492	c.2363G>A	c.(2362-2364)cGg>cAg	p.R788Q		NM_003105	NP_003096	Q92673	SORL_HUMAN	Homo sapiens sortilin-related receptor, L(DLR class) A repeats containing (SORL1), mRNA.	788					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ACCGGGCTACGGGCAGCAGTG	0.562													A	121424742	G	A	121424742	3	1	172	1	0	0	0	0	1	0	0	0	15028	1116	39	1	2429	1	SORL1	11	121424742	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	54199615	121424742	13581774	33	12010											
TFDP1	7027	broad.mit.edu	37	chr13	114294537	114294537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctacgtcggggaggaCgacgaggaggacgatgactt	9	7	17	8	5	0	1	0	1	0	0	2	8	1	5	1	5	1	0	1	5	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr13:114294537C>T	uc001vtw.3	+	11	1400	c.1188C>T	c.(1186-1188)gaC>gaT	p.D396D	TFDP1_uc010tkd.2_Silent_p.D297D|TFDP1_uc010tke.2_Silent_p.D367D|TFDP1_uc001vty.4_Silent_p.D392D	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	396	Asp/Glu-rich (acidic; NCB domain).				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			tcggggaggacgacgaggagg	0.557										TSP Lung(29;0.18)			T	114294537	C	T	114294537	2	4	172	1	0	0	0	0	0	0	0	1	15897	535	19	1		1	TFDP1	13	114294537	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08		114294537	875341	34	12011											
CDC42BPB	9578	broad.mit.edu	37	chr14	103523372	103523372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgtacttgtcgcggcGcagggccgagtggctgcact	5	7	16	13	5	0	0	0	0	0	0	1	1	0	0	2	4	2	4	2	4	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr14:103523372G>A	uc001ymi.1	-	0	371	c.139C>T	c.(139-141)Cgc>Tgc	p.R47C		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	47					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGTCGCGGCGCAGGGCCGAG	0.721													A	103523372	G	A	103523372	3	1	172	1	0	0	0	0	1	0	0	0	3103	1087	38	1	5144	1	CDC42BPB	14	103523372	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		103523372	3826168	35	12012											
ANPEP	290	broad.mit.edu	37	chr15	90349552	90349552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggtacggtctcagcGtcacccggtaggaatcgggt	7	8	17	9	4	2	1	2	1	1	0	4	2	2	2	1	6	2	2	1	6	3	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr15:90349552G>A	uc002bop.4	-	1	555	c.263C>T	c.(262-264)aCg>aTg	p.T88M		NM_001150	NP_001141	P15144	AMPN_HUMAN	Homo sapiens alanyl (membrane) aminopeptidase (ANPEP), mRNA.	88	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CGGTCTCAGCGTCACCCGGTA	0.597													A	90349552	G	A	90349552	3	1	172	1	0	0	0	0	1	0	0	0	710	1145	40	1	2720	1	ANPEP	15	90349552	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		90349552	12181840	36	12013											
NOD2	64127	broad.mit.edu	37	chr16	50745689	50745689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactcagtgctgatgtgccaCcagctttgctcagacacctc	8	10	8	15	0	2	2	2	1	0	1	3	2	2	2	3	0	4	3	3	0	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:50745689C>G	uc002egm.1	+	3	1972	c.1867C>G	c.(1867-1869)Cca>Gca	p.P623A	NOD2_uc021tia.1_Missense_Mutation_p.P455A|NOD2_uc010cbk.1_Missense_Mutation_p.P596A|NOD2_uc002egl.1_Missense_Mutation_p.P401A|NOD2_uc010cbl.1_Missense_Mutation_p.P401A|NOD2_uc010cbm.1_Missense_Mutation_p.P401A|NOD2_uc010cbn.1_Non-coding_Transcript|NOD2_uc010cbo.1_Non-coding_Transcript|NOD2_uc010cbp.1_5'Flank|NOD2_uc010cbq.1_5'Flank|NOD2_uc010cbr.1_5'Flank	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	623					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TGATGTGCCACCAGCTTTGCT	0.582													G	50745689	C	G	50745689	3	3	172	1	0	0	0	0	1	0	0	0	10593	507	18	4	1881	4	NOD2	16	50745689	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		50745689	39609064	37	12014											
NUP93	9688	broad.mit.edu	37	chr16	56865910	56865910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaactgaggattacctGtggctgaaggtaggcactgt	12	9	13	7	0	0	2	0	2	0	0	0	4	0	3	1	4	2	3	1	4	5	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:56865910G>A	uc002eka.3	+	10	1363	c.1242G>A	c.(1240-1242)ctG>ctA	p.L414L	NUP93_uc002ekb.3_Silent_p.L291L|NUP93_uc010vhi.2_Silent_p.L291L	NM_014669	NP_001229725	Q8N1F7	NUP93_HUMAN	Homo sapiens nucleoporin 93kDa (NUP93), transcript variant 1, mRNA.	414					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						AGGATTACCTGTGGCTGAAGG	0.502													A	56865910	G	A	56865910	2	1	172	1	0	0	0	0	0	0	0	1	10848	1364	48	2		2	NUP93	16	56865910	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	6120221	56865910	33488843	38	12015											
CDYL2	124359	broad.mit.edu	37	chr16	80718650	80718650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtcctgtaagacaccGtcttggtggccctgtcacct	6	11	12	12	1	2	1	1	0	1	1	3	1	3	1	4	3	0	2	4	3	2	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr16:80718650G>A	uc002ffs.3	-	1	506	c.401C>T	c.(400-402)aCg>aTg	p.T134M		NM_152342	NP_689555	Q8N8U2	CDYL2_HUMAN	Homo sapiens chromodomain protein, Y-like 2 (CDYL2), mRNA.	134						nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GTAAGACACCGTCTTGGTGGC	0.537													A	80718650	G	A	80718650	3	1	172	1	0	0	0	0	1	0	0	0	3216	1145	40	1	1143	1	CDYL2	16	80718650	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	23852740	80718650	9636103	39	12016											
NLRP1	22861	broad.mit.edu	37	chr17	5418262	5418262	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagcaccctctcgtactGctcctggctcagcacctgtc	6	9	8	18	1	2	0	1	0	1	0	5	0	3	0	4	1	5	5	4	1	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:5418262G>A	uc002gci.3	-	16	4789	c.4234C>T	c.(4234-4236)Cag>Tag	p.Q1412*	NLRP1_uc002gcg.1_Intron|NLRP1_uc002gch.4_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gck.3_Nonsense_Mutation_p.Q1368*|NLRP1_uc002gcj.3_Nonsense_Mutation_p.Q1382*|NLRP1_uc002gcl.3_Nonsense_Mutation_p.Q1338*	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	1412	CARD.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CTCTCGTACTGCTCCTGGCTC	0.572													A	5418262	G	A	5418262	4	1	172	1	0	0	0	0	0	1	0	0	10547	1328	46	2	254	2	NLRP1	17	5418262	Nonsense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		5418262	75776948	40	12017											
DNAH2	146754	broad.mit.edu	37	chr17	7708677	7708677	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttatgattcttcgaggcaaCgagcccacatgggcagaggc	10	8	13	10	2	1	2	0	1	1	1	2	4	1	2	1	3	2	3	1	3	2	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:7708677C>T	uc002giu.1	+	59	9422	c.9408C>T	c.(9406-9408)aaC>aaT	p.N3136N	DNAH2_uc010cnm.1_Silent_p.N74N	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3136	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.N3136N(2)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCGAGGCAACGAGCCCACAT	0.498													T	7708677	C	T	7708677	2	4	172	1	0	0	0	0	0	0	0	1	4641	535	19	1		1	DNAH2	17	7708677	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	2290415	7708677	73486533	41	12018											
PRPSAP2	5636	broad.mit.edu	37	chr17	18833933	18833933	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgtggatatcagcatgatCctttcagaggcgatccgtcg	9	11	11	10	3	2	2	2	1	0	1	5	4	4	3	2	2	1	1	2	2	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:18833933C>T	uc002gup.2	+	11	1354	c.1032C>T	c.(1030-1032)atC>atT	p.I344I	PRPSAP2_uc002guo.2_Silent_p.I258I|PRPSAP2_uc010vyi.2_Silent_p.I304I|PRPSAP2_uc010vyj.2_Silent_p.I258I|PRPSAP2_uc010vyk.2_Silent_p.I295I|PRPSAP2_uc002guq.2_Silent_p.I131I	NM_002767	NP_002758	O60256	KPRB_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 2 (PRPSAP2), transcript variant 1, mRNA.	344					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						TCAGCATGATCCTTTCAGAGG	0.448													T	18833933	C	T	18833933	2	4	172	1	0	0	0	0	0	0	0	1	12668	845	30	2		2	PRPSAP2	17	18833933	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08	11125256	18833933	62361277	42	12019											
SLC6A4	6532	broad.mit.edu	37	chr17	28537542	28537542	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgatactcacaaaagtcagGgtgaccagggatccaaagaa	17	6	10	8	0	2	3	2	2	0	1	3	4	3	4	2	2	1	0	2	2	5	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:28537542G>A	uc002hey.4	-	10	1984	c.1440C>T	c.(1438-1440)acC>acT	p.T480T	SLC6A4_uc010csg.3_Non-coding_Transcript	NM_001045	NP_001036	P31645	SC6A4_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, serotonin), member 4 (SLC6A4), mRNA.	480					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CAAAAGTCAGGGTGACCAGGG	0.582													A	28537542	G	A	28537542	2	1	172	1	0	0	0	0	0	0	0	1	14780	1219	43	2		2	SLC6A4	17	28537542	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	9703609	28537542	52657668	43	12020											
ABCA5	23461	broad.mit.edu	37	chr17	67305454	67305454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcatatcaggaaaaaaacGaagttcataggacatggagt	19	8	9	5	1	3	0	3	0	0	0	3	4	3	3	0	3	1	1	0	3	7	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:67305454G>A	uc002jif.2	-	2	1636	c.418C>T	c.(418-420)Cgt>Tgt	p.R140C	ABCA5_uc002jig.2_Missense_Mutation_p.R140C|ABCA5_uc002jih.2_Missense_Mutation_p.R140C|ABCA5_uc010dfe.2_Missense_Mutation_p.R140C	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	140					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GGAAAAAAACGAAGTTCATAG	0.328													A	67305454	G	A	67305454	3	1	172	1	0	0	0	0	1	0	0	0	35	1058	37	1	4654	1	ABCA5	17	67305454	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	38767912	67305454	13889756	44	12021											
RECQL5	9400	broad.mit.edu	37	chr17	73626864	73626864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgtctcttaccttcaCagtcagcctggggatcctcc	5	11	8	17	1	3	0	2	0	1	0	6	1	5	1	5	2	3	0	5	2	1	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73626864C>G	uc010dgl.3	-	11	1848	c.1639G>C	c.(1639-1641)Gtg>Ctg	p.V547L	RECQL5_uc010dgk.3_Missense_Mutation_p.V520L|RECQL5_uc002jot.4_5'Flank|C17orf109_uc002jow.2_5'Flank	NM_004259	NP_004250	O94762	RECQ5_HUMAN	Homo sapiens RecQ protein-like 5 (RECQL5), transcript variant 1, mRNA.	547					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding	p.E546D(1)		breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			CTTACCTTCACAGTCAGCCTG	0.657								Other identified genes with known or suspected DNA repair function					G	73626864	C	G	73626864	3	3	172	1	0	0	0	0	1	0	0	0	13291	478	17	4	1372	4	RECQL5	17	73626864	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	6321410	73626864	7568346	45	12022											
GALK1	2584	broad.mit.edu	37	chr17	73754163	73754163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcaccttggctccatCggctgcttgagagaggtaga	9	8	13	11	1	0	3	0	1	0	2	2	4	1	3	2	3	2	6	2	3	1	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr17:73754163C>A	uc002jpk.3	-	7	1216	c.1153G>T	c.(1153-1155)Gat>Tat	p.D385Y		NM_000154	NP_000145	P51570	GALK1_HUMAN	Homo sapiens galactokinase 1 (GALK1), mRNA.	385					galactose catabolic process	cytosol	ATP binding|galactokinase activity|galactose binding			endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	5	all_cancers(13;1.5e-07)		all cancers(21;1.03e-06)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGGCTCCATCGGCTGCTTGA	0.682													A	73754163	C	A	73754163	3	1	172	1	0	0	0	0	1	0	0	0	6257	884	31	4	29	4	GALK1	17	73754163	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08	127299	73754163	7441047	46	12023											
OR10H3	26532	broad.mit.edu	37	chr19	15852470	15852470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatctgctcttcaccCatcgttccatcacctttgtg	5	15	7	14	1	4	1	2	1	2	0	6	1	5	1	3	1	1	3	3	1	0	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:15852470C>T	uc010xoq.2	+	0	268	c.268C>T	c.(268-270)Cat>Tat	p.H90Y		NM_013938	NP_039226	O60404	O10H3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 3 (OR10H3), mRNA.	90					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GCTCTTCACCCATCGTTCCAT	0.502													T	15852470	C	T	15852470	3	4	172	1	0	0	0	0	1	0	0	0	10983	594	21	2	270	2	OR10H3	19	15852470	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		15852470	43276513	47	12024											
CPAMD8	27151	broad.mit.edu	37	chr19	17017835	17017835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggagcagggtcagcgcGtaggtagtcagggcacagct	8	6	17	10	3	2	0	2	0	0	0	2	1	2	1	0	4	4	5	0	4	2	2			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:17017835G>A	uc002nfb.3	-	29	4127	c.4095C>T	c.(4093-4095)taC>taT	p.Y1365Y		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1318						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGGTCAGCGCGTAGGTAGTCA	0.662													A	17017835	G	A	17017835	2	1	172	1	0	0	0	0	0	0	0	1	3826	1140	40	1		1	CPAMD8	19	17017835	Silent	SNP	G	TCGA-26-1439-01A-01D-1353-08	1165365	17017835	42111148	48	12025											
PSG3	5669	broad.mit.edu	37	chr19	43373123	43373123	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggttcacaggtgaagtttAagacatccttattctccctg	10	14	8	9	0	2	2	1	1	1	1	4	2	3	2	2	2	0	2	2	2	4	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr19:43373123A>C	uc002ovd.1	-	3	911	c.773T>G	c.(772-774)tTa>tGa	p.L258*	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Nonsense_Mutation_p.L258*|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Nonsense_Mutation_p.L165*|PSG3_uc002ova.2_Nonsense_Mutation_p.L165*|PSG3_uc002ouz.2_Nonsense_Mutation_p.L258*|PSG3_uc002ovb.3_Nonsense_Mutation_p.L258*	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	258	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGTGAAGTTTAAGACATCCTT	0.488													C	43373123	A	C	43373123	4	2	172	1	0	0	0	0	0	1	0	0	12741	372	13	5		5	PSG3	19	43373123	Nonsense_Mutation	SNP	A	TCGA-26-1439-01A-01D-1353-08	26355288	43373123	15755860	49	12026											
SPTLC3	55304	broad.mit.edu	37	chr20	13052931	13052931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgccactgtatcaagactttGaaaatttttatacaagaaac	16	13	5	7	0	1	3	1	1	0	2	1	3	1	3	1	0	3	1	1	0	8	6			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr20:13052931G>C	uc002wod.1	+	2	620	c.331G>C	c.(331-333)Gaa>Caa	p.E111Q		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	111					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCAAGACTTTGAAAATTTTTA	0.428													C	13052931	G	C	13052931	3	2	172	1	0	0	0	0	1	0	0	0	15221	1291	45	4	341	4	SPTLC3	20	13052931	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		13052931	49972589	50	12027											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066487	46066487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcccccagctgctgcGccccggccccctccctgagc	3	4	11	23	3	0	1	0	1	0	0	1	1	1	1	7	1	5	3	7	1	0	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr21:46066487G>A	uc002zfr.4	+	0	157	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198692	NP_941965	P60411	KR109_HUMAN	Homo sapiens keratin associated protein 10-11 (KRTAP10-11), mRNA.	38	25 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						CAGCTGCTGCGCCCCGGCCCC	0.697													A	46066487	G	A	46066487	3	1	172	1	0	0	0	0	1	0	0	0	8565	1087	38	1	114	1	KRTAP10-11	21	46066487	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08		46066487	2063408	51	12028											
CECR6	27439	broad.mit.edu	37	chr22	17600851	17600851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcatccggccgcgcggtgCcgctggggctgcagcagcag	6	4	17	14	5	0	0	0	0	0	0	1	0	1	0	3	4	5	6	3	4	1	0			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:17600851C>T	uc002zmb.2	-	0	1363	c.1167G>A	c.(1165-1167)cgG>cgA	p.R389R	CECR6_uc002zma.2_Silent_p.R34R|BC021738_uc002zmc.3_5'Flank	NM_031890	NP_114096	Q9BXQ6	CECR6_HUMAN	Homo sapiens cat eye syndrome chromosome region, candidate 6 (CECR6), transcript variant 1, mRNA.	389										haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		CCGCGCGGTGCCGCTGGGGCT	0.736													T	17600851	C	T	17600851	2	4	172	1	0	0	0	0	0	0	0	1	3238	726	26	2		2	CECR6	22	17600851	Silent	SNP	C	TCGA-26-1439-01A-01D-1353-08		17600851	33703715	52	12029											
GNB1L	54584	broad.mit.edu	37	chr22	19794193	19794193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccttacctgccacagccGcaggcacatgggcatgccca	8	5	12	16	1	0	0	0	0	0	0	0	0	0	0	5	3	4	3	5	3	1	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:19794193G>C	uc002zqf.1	-	5	742	c.505C>G	c.(505-507)Cgg>Ggg	p.R169G		NM_053004	NP_443730	Q9BYB4	GNB1L_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1-like (GNB1L), mRNA.	169					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	internal side of plasma membrane|intracellular				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					TGCCACAGCCGCAGGCACATG	0.607													C	19794193	G	C	19794193	3	2	172	1	0	0	0	0	1	0	0	0	6572	1086	38	4	490	4	GNB1L	22	19794193	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	2193342	19794193	31510373	53	12030											
CSF2RB	1439	broad.mit.edu	37	chr22	37325775	37325775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcccgagtacggacccGcctggccccaggttctcggc	4	6	14	17	5	1	0	0	0	1	0	2	2	1	1	5	5	1	2	5	5	1	2	rs149714683		TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37325775G>A	uc003aqa.4	+	5	861	c.644G>A	c.(643-645)cGc>cAc	p.R215H	CSF2RB_uc003aqc.4_Missense_Mutation_p.R215H	NM_000395	NP_000386	P32927	IL3RB_HUMAN	Homo sapiens colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage) (CSF2RB), mRNA.	215	Fibronectin type-III 1.				respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GTACGGACCCGCCTGGCCCCA	0.647													A	37325775	G	A	37325775	3	1	172	1	0	0	0	0	1	0	0	0	3968	1087	38	1	662	1	CSF2RB	22	37325775	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	17531582	37325775	13978791	54	12031											
SSTR3	6753	broad.mit.edu	37	chr22	37603101	37603101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgttcggagcgccgccGccgctggcacgagggtgccc	3	5	16	17	7	0	0	0	0	0	0	1	2	0	1	5	3	3	3	5	3	0	1			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chr22:37603101G>A	uc003ara.3	-	1	804	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	SSTR3_uc003arb.3_Missense_Mutation_p.R248W|SSTR3_uc021wos.1_Missense_Mutation_p.R248W	NM_001051	NP_001042	P32745	SSR3_HUMAN	Homo sapiens somatostatin receptor 3 (SSTR3), mRNA.	248					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GAGCGCCGCCGCCGCTGGCAC	0.667													A	37603101	G	A	37603101	3	1	172	1	0	0	0	0	1	0	0	0	15295	1086	38	1	518	1	SSTR3	22	37603101	Missense_Mutation	SNP	G	TCGA-26-1439-01A-01D-1353-08	277326	37603101	13701465	55	12032											
EFNB1	1947	broad.mit.edu	37	chrX	68058542	68058542	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccgagcagaagcagggCggccctatgagtactacaag	11	4	13	13	2	0	2	0	1	0	1	0	3	0	2	3	2	4	3	3	2	5	3			TCGA-26-1439-01A-01D-1353-08	TCGA-26-1439-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0d78dbfc-db49-42a2-a399-593c4b0839ff	07608301-2532-446d-acff-641e40d2e038	g.chrX:68058542C>G	uc004dxe.2	+	1	991	c.211C>G	c.(211-213)Cgg>Ggg	p.R71G	EFNB1_uc004dxd.4_Missense_Mutation_p.R71G	NM_004429	NP_004420	P98172	EFNB1_HUMAN	Homo sapiens ephrin-B1 (EFNB1), mRNA.	71					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding	p.R71W(2)|p.R71Q(1)		breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGAAGCAGGGCGGCCCTATGA	0.572													G	68058542	C	G	68058542	3	3	172	1	0	0	0	0	1	0	0	0	4994	759	27	4	217	4	EFNB1	23	68058542	Missense_Mutation	SNP	C	TCGA-26-1439-01A-01D-1353-08		68058542	87212018	56	12033											
TIE1	7075	broad.mit.edu	37	chr1	43778133	43778133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaggagcggcgggagaaCgtctcatccccccaggcccg	7	3	16	15	4	1	1	1	0	1	1	3	3	2	2	4	5	2	1	4	5	1	0			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:43778133C>T	uc001ciu.3	+	11	1965	c.1788C>T	c.(1786-1788)aaC>aaT	p.N596N	TIE1_uc010okd.2_Silent_p.N596N|TIE1_uc010oke.2_Silent_p.N551N|TIE1_uc009vwq.3_Silent_p.N552N|TIE1_uc010okf.1_Silent_p.N241N|TIE1_uc010okg.2_Silent_p.N241N	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	596	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCGGGAGAACGTCTCATCCC	0.697													T	43778133	C	T	43778133	2	4	173	1	0	0	0	0	0	0	0	1	15993	535	19	1		1	TIE1	1	43778133	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08		43778133	205472488	1	12034											
DNAJB4	11080	broad.mit.edu	37	chr1	78478954	78478954	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcatgaatggatatccaaGagacaggaattctgtggggc	13	8	13	7	0	1	2	0	1	1	1	2	5	2	4	1	4	1	1	1	4	4	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:78478954G>C	uc001dij.3	+	1	590	c.431G>C	c.(430-432)aGa>aCa	p.R144T	DNAJB4_uc010orn.2_Missense_Mutation_p.R29T	NM_007034	NP_008965	Q9UDY4	DNJB4_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 4 (DNAJB4), mRNA.	144					protein folding|response to heat|response to unfolded protein	cytoplasm|plasma membrane	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						GGATATCCAAGAGACAGGAAT	0.413													C	78478954	G	C	78478954	3	2	173	1	0	0	0	0	1	0	0	0	4661	942	33	4	437	4	DNAJB4	1	78478954	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	34700821	78478954	170771667	2	12035											
S100A8	6279	broad.mit.edu	37	chr1	153362982	153362982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagacgtcgatgatagaGttcaaggctttctccagctc	9	12	11	9	2	2	3	1	1	1	2	5	4	2	3	1	2	1	4	1	2	3	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:153362982G>T	uc001fbs.3	-	1	200	c.30C>A	c.(28-30)aaC>aaA	p.N10K		NM_002964	NP_002955	P05109	S10A8_HUMAN	Homo sapiens S100 calcium binding protein A8 (S100A8), mRNA.	10					chemotaxis	cytoplasm|cytoskeleton|plasma membrane	calcium ion binding|protein binding			breast(1)|endometrium(1)|lung(1)|urinary_tract(1)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CGATGATAGAGTTCAAGGCTT	0.502													T	153362982	G	T	153362982	3	4	173	1	0	0	0	0	1	0	0	0	13877	1020	36	4	259	4	S100A8	1	153362982	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	74884028	153362982	95887639	3	12036											
CFH	10877	broad.mit.edu	37	chr1	196887345	196887345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctgctttcagatccaTgtataataactgaagaaaac	14	15	5	7	0	2	3	1	1	1	2	3	3	3	3	1	0	3	2	1	0	6	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:196887345T>C	uc001gtp.3	+	9	1683	c.1546T>C	c.(1546-1548)Tgt>Cgt	p.C516R	CFH_uc021pgt.1_Missense_Mutation_p.C139R|CFH_uc009wyy.3_Missense_Mutation_p.C515R|CFH_uc001gto.3_Missense_Mutation_p.C269R	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	868	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTCAGATCCATGTATAATAAC	0.259													C	196887345	T	C	196887345	3	2	173	1	0	0	0	0	1	0	0	0	3313	1464	51	3		3	CFH	1	196887345	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08	43524363	196887345	52363276	4	12037											
CACNA1S	779	broad.mit.edu	37	chr1	201042718	201042718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcacccttgggtttctgctCcagcttcttggccatcgttg	3	15	9	14	1	3	0	1	0	2	0	5	0	4	0	3	2	2	4	3	2	0	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:201042718C>G	uc001gvv.3	-	14	2343	c.2116G>C	c.(2116-2118)Gag>Cag	p.E706Q		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	706					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GGTTTCTGCTCCAGCTTCTTG	0.542													G	201042718	C	G	201042718	3	3	173	1	0	0	0	0	1	0	0	0	2573	864	30	4	3625	4	CACNA1S	1	201042718	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	4155373	201042718	48207903	5	12038											
USH2A	7399	broad.mit.edu	37	chr1	216348801	216348801	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgttgattcctttaaccaGaggtggcctcagttgtgctg	6	14	12	9	0	1	2	1	1	0	1	2	2	2	2	3	2	2	4	3	2	1	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr1:216348801G>C	uc001hku.1	-	20	4807	c.4420C>G	c.(4420-4422)Ctg>Gtg	p.L1474V	USH2A_uc001hkv.3_Missense_Mutation_p.L1474V	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1474					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)		CCTTTAACCAGAGGTGGCCTC	0.403										HNSCC(13;0.011)			C	216348801	G	C	216348801	3	2	173	1	0	0	0	0	1	0	0	0	17138	933	33	4	11410	4	USH2A	1	216348801	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	15306083	216348801	32901820	6	12039											
TTC27	55622	broad.mit.edu	37	chr2	33036261	33036261	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtatatggaaatgggcaGagtgaaaagcctgatgaaaa	17	7	12	5	1	0	4	0	3	0	1	0	5	0	5	1	2	1	2	1	2	7	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:33036261G>C	uc002rom.3	+	16	2442	c.2169G>C	c.(2167-2169)caG>caC	p.Q723H	TTC27_uc010ymx.2_Missense_Mutation_p.Q673H	NM_017735	NP_001180438	Q6P3X3	TTC27_HUMAN	Homo sapiens tetratricopeptide repeat domain 27 (TTC27), transcript variant 1, mRNA.	723							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GAAATGGGCAGAGTGAAAAGC	0.428													C	33036261	G	C	33036261	3	2	173	1	0	0	0	0	1	0	0	0	16797	933	33	4	2235	4	TTC27	2	33036261	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		33036261	210163112	7	12040											
INO80B	83444	broad.mit.edu	37	chr2	74684891	74684891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgctacgcttgctcccGcacaggccaggcactctgta	6	7	11	17	4	1	0	0	0	1	0	2	0	2	0	3	2	2	6	3	2	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:74684891G>A	uc010yrs.2	+	3	1226	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	INO80B_uc002slg.3_Missense_Mutation_p.R324H|INO80B_uc010yrr.2_Missense_Mutation_p.R296H|INO80B_uc002sli.2_Non-coding_Transcript|WBP1_uc002slj.2_5'Flank|WBP1_uc002sll.2_5'Flank	NM_031288	NP_112578	Q9C086	IN80B_HUMAN	Homo sapiens INO80 complex subunit B (INO80B), mRNA.	324					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCTTGCTCCCGCACAGGCCAG	0.697													A	74684891	G	A	74684891	3	1	173	1	0	0	0	0	1	0	0	0	7805	1087	38	1	989	1	INO80B	2	74684891	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	41648630	74684891	168514482	8	12041											
KIF5C	3800	broad.mit.edu	37	chr2	149857246	149857246	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgtttttcagattgctcaacGataaaagggaacaagccaga	15	10	9	7	1	2	2	2	0	0	2	2	4	2	3	1	1	4	2	1	1	5	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:149857246G>C	uc010zbu.2	+	20	2718	c.2323G>C	c.(2323-2325)Gat>Cat	p.D775H	KIF5C_uc002tws.1_Non-coding_Transcript|KIF5C_uc002twu.1_Missense_Mutation_p.D57H	NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	775					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		ATTGCTCAACGATAAAAGGGA	0.423													C	149857246	G	C	149857246	3	2	173	1	0	0	0	0	1	0	0	0	8365	1058	37	4	2327	4	KIF5C	2	149857246	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	75172355	149857246	93342127	9	12042											
COQ10B	80219	broad.mit.edu	37	chr2	198318368	198318368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagcggccggggcgcaGgcgcccgtgcggaatggcag	6	2	20	13	7	0	0	0	0	0	0	0	2	0	1	2	6	2	2	2	6	1	0			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:198318368G>A	uc002uuh.1	+	0	138	c.84G>A	c.(82-84)caG>caA	p.Q28Q	COQ10B_uc010fsl.1_5'Flank	NM_025147	NP_079423	Q9H8M1	CQ10B_HUMAN	Homo sapiens coenzyme Q10 homolog B (S. cerevisiae) (COQ10B), nuclear gene encoding mitochondrial protein, mRNA.	28						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCGGGGCGCAGGCGCCCGTGC	0.627													A	198318368	G	A	198318368	2	1	173	1	0	0	0	0	0	0	0	1	3775	991	35	2		2	COQ10B	2	198318368	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	48461122	198318368	44881005	10	12043											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	173	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	10794744	209113112	34086261	11	12044											
SMARCC1	6599	broad.mit.edu	37	chr3	47755965	47755965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatcaacatcattactatgGacccaagtatcatagctata	15	11	5	10	0	3	0	3	0	0	0	3	1	3	1	1	1	3	3	1	1	8	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:47755965G>A	uc003crq.2	-	7	850	c.732C>T	c.(730-732)gtC>gtT	p.V244V	SMARCC1_uc011bbd.1_Silent_p.V135V	NM_003074	NP_003065	Q92922	SMRC1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1 (SMARCC1), mRNA.	244					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity	p.W243L(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATTACTATGGACCCAAGTAT	0.274													A	47755965	G	A	47755965	2	1	173	1	0	0	0	0	0	0	0	1	14869	1161	41	2		2	SMARCC1	3	47755965	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08		47755965	150266465	12	12045											
ITIH1	3697	broad.mit.edu	37	chr3	52822082	52822082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaccgagtgaccggcGgtgagtccttggaagggtct	7	8	16	10	3	1	3	0	2	1	1	2	5	2	4	4	4	1	0	4	4	1	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:52822082G>A	uc003dfs.3	+	17	2035	c.2005_splice	c.e17+1	p.V669_splice	ITIH1_uc010hmn.2_Splice_Site|ITIH1_uc021wzf.1_Splice_Site_p.V527_splice|ITIH1_uc021wzg.1_Splice_Site_p.V381_splice|ITIH1_uc021wzh.1_Splice_Site_p.V381_splice|ITIH1_uc003dft.3_Splice_Site_p.V270_splice	NM_002215	NP_002206	P19827	ITIH1_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 1 (ITIH1), transcript variant 1, mRNA.	669	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGTGACCGGCGGTGAGTCCTT	0.607													A	52822082	G	A	52822082	3	1	173	1	0	0	0	0	1	0	0	0	7961	1130	39	1	2071	1	ITIH1	3	52822082	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5066117	52822082	145200348	13	12046											
DZIP1L	199221	broad.mit.edu	37	chr3	137799416	137799416	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaggtcccaccttcctcTggagagtcctcctctgtgtc	6	12	9	14	0	2	1	0	0	2	1	7	2	6	1	5	2	0	1	5	2	1	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:137799416T>C	uc003erq.3	-	9	1644	c.1281A>G	c.(1279-1281)ccA>ccG	p.P427P	DZIP1L_uc003err.1_Silent_p.P427P	NM_173543	NP_775814	Q8IYY4	DZI1L_HUMAN	Homo sapiens DAZ interacting protein 1-like (DZIP1L), transcript variant 1, mRNA.	427						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CACCTTCCTCTGGAGAGTCCT	0.522													C	137799416	T	C	137799416	2	2	173	1	0	0	0	0	0	0	0	1	4903	1567	55	3		3	DZIP1L	3	137799416	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	84977334	137799416	60223014	14	12047											
ZBTB38	253461	broad.mit.edu	37	chr3	141162963	141162963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaatgcaagagagccccttAtaagagctaccgaaattctt	15	9	8	9	1	1	2	0	0	1	2	1	5	1	2	3	0	4	2	3	0	6	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr3:141162963A>G	uc010hup.3	+	1	1783	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	ZBTB38_uc003etw.3_Missense_Mutation_p.Y578C|ZBTB38_uc010hun.3_Missense_Mutation_p.Y575C|ZBTB38_uc010huo.3_Missense_Mutation_p.Y578C|ZBTB38_uc003ety.3_Missense_Mutation_p.Y578C|ZBTB38_uc021xes.1_Missense_Mutation_p.Y578C	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	578					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGCCCCTTATAAGAGCTAC	0.408													G	141162963	A	G	141162963	3	3	173	1	0	0	0	0	1	0	0	0	17640	449	16	3	1735	3	ZBTB38	3	141162963	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	3363547	141162963	56859467	15	12048											
TRIML1	339976	broad.mit.edu	37	chr4	189068016	189068016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacagctaatgcctatctCgtgttgtcggaggatctgaa	9	11	11	10	2	2	1	0	1	2	0	4	3	2	3	2	2	2	2	2	2	3	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr4:189068016C>T	uc003izm.1	+	5	1012	c.897C>T	c.(895-897)ctC>ctT	p.L299L	TRIML1_uc003izn.1_Silent_p.L23L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	299	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.L299L(4)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		ATGCCTATCTCGTGTTGTCGG	0.512													T	189068016	C	T	189068016	2	4	173	1	0	0	0	0	0	0	0	1	16651	871	31	1		1	TRIML1	4	189068016	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08		189068016	2086260	16	12049											
CNOT8	9337	broad.mit.edu	37	chr5	154250226	154250226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgttttttagagaggAcatgtactcccaggattcca	10	13	8	10	0	0	1	0	0	0	1	2	4	2	3	3	2	1	2	3	2	2	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr5:154250226A>G	uc003lvu.3	+	4	796	c.317A>G	c.(316-318)gAc>gGc	p.D106G	CNOT8_uc011ddf.2_5'UTR|CNOT8_uc011ddg.2_5'UTR|CNOT8_uc011ddh.2_Intron|CNOT8_uc003lvv.3_Missense_Mutation_p.D106G|CNOT8_uc010jig.3_5'UTR|CNOT8_uc010jif.3_5'UTR|CNOT8_uc003lvw.3_Missense_Mutation_p.D106G|CNOT8_uc011ddi.2_5'UTR|CNOT8_uc011ddj.2_Intron	NM_004779	NP_004770	Q9UFF9	CNOT8_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 8 (CNOT8), mRNA.	106					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTTAGAGAGGACATGTACTCC	0.393													G	154250226	A	G	154250226	3	3	173	1	0	0	0	0	1	0	0	0	3656	275	10	3	327	3	CNOT8	5	154250226	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08		154250226	26665034	17	12050											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107726	26107726	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatgtggcctttctaacaTtaacttcatgatgttgggtc	9	16	9	7	0	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	3	6			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:26107726T>A	uc003ngj.3	-	0	639	c.596A>T	c.(595-597)aAt>aTt	p.N199I		NM_005323	NP_005314	P22492	H1T_HUMAN	Homo sapiens histone cluster 1, H1t (HIST1H1T), mRNA.	199					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CTTTCTAACATTAACTTCATG	0.448													A	26107726	T	A	26107726	3	1	173	1	0	0	0	0	1	0	0	0	7182	1493	52	5	31	5	HIST1H1T	6	26107726	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		26107726	145007341	18	12051											
NCOA7	135112	broad.mit.edu	37	chr6	126210501	126210501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaatgcacaaaaaagAcaccttgaaggagtgccttt	14	9	11	7	0	0	2	0	1	0	1	0	4	0	4	2	3	2	1	2	3	5	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr6:126210501A>T	uc003qai.3	+	8	1670	c.1301A>T	c.(1300-1302)gAc>gTc	p.D434V	NCOA7_uc010kes.3_Missense_Mutation_p.D434V|NCOA7_uc003qae.4_Missense_Mutation_p.D434V|NCOA7_uc010ket.3_Missense_Mutation_p.D319V|NCOA7_uc003qah.3_Missense_Mutation_p.D423V	NM_181782	NP_861447	Q8NI08	NCOA7_HUMAN	Homo sapiens nuclear receptor coactivator 7 (NCOA7), transcript variant 1, mRNA.	434					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CACAAAAAAGACACCTTGAAG	0.423													T	126210501	A	T	126210501	3	4	173	1	0	0	0	0	1	0	0	0	10310	275	10	5	1331	5	NCOA7	6	126210501	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	100102775	126210501	44904566	19	12052											
TNRC18	84629	broad.mit.edu	37	chr7	5354614	5354614	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggggaccaggccaacctaCcacccttggccttggcgctg	6	7	12	16	1	0	0	0	0	0	0	0	1	0	1	6	5	2	1	6	5	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:5354614C>A	uc003soi.4	-	26	7376	c.7027_splice	c.e26+1	p.D2343_splice		NM_001080495	NP_001073964	O15417	TNC18_HUMAN	Homo sapiens trinucleotide repeat containing 18 (TNRC18), mRNA.	2343							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GGCCAACCTACCACCCTTGGC	0.672													A	5354614	C	A	5354614	5	1	173	1	0	0	0	0	0	0	1	0	16439	521	18	4	1898	4	TNRC18	7	5354614	Splice_Site	SNP	C	TCGA-26-1442-01A-01D-1696-08		5354614	153784049	20	12053											
OGDH	4967	broad.mit.edu	37	chr7	44747273	44747273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaggagcacaagaaccaAggctactatgactacgtgaa	16	5	11	9	1	0	3	0	2	0	1	0	5	0	5	1	3	4	2	1	3	7	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr7:44747273A>G	uc003tln.3	+	21	3048	c.2889A>G	c.(2887-2889)caA>caG	p.Q963Q	OGDH_uc011kbx.2_Silent_p.Q959Q|OGDH_uc011kby.2_Silent_p.Q813Q|OGDH_uc003tlp.3_Silent_p.Q974Q|OGDH_uc011kbz.2_Silent_p.Q758Q	NM_002541	NP_002532	Q02218	ODO1_HUMAN	Homo sapiens oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide) (OGDH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	963					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACAAGAACCAAGGCTACTATG	0.592													G	44747273	A	G	44747273	2	3	173	1	0	0	0	0	0	0	0	1	10915	69	3	3		3	OGDH	7	44747273	Silent	SNP	A	TCGA-26-1442-01A-01D-1696-08	39392659	44747273	114391390	21	12054											
ERLIN2	11160	broad.mit.edu	37	chr8	37611537	37611537	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaacatgttcatggactcTgcgggcagtgtgagcaagca	10	9	12	10	1	2	1	1	1	1	0	2	2	2	2	1	2	4	4	1	2	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:37611537T>C	uc003xke.4	+	11	1039	c.924T>C	c.(922-924)tcT>tcC	p.S308S		NM_007175	NP_009106	O94905	ERLN2_HUMAN	Homo sapiens ER lipid raft associated 2 (ERLIN2), transcript variant 1, mRNA.	308	Interaction with ERLIN1.				ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	protein binding			NS(1)|large_intestine(1)|lung(5)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCATGGACTCTGCGGGCAGTG	0.463													C	37611537	T	C	37611537	2	2	173	1	0	0	0	0	0	0	0	1	5274	1567	55	3		3	ERLIN2	8	37611537	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08		37611537	108752485	22	12055											
LAPTM4B	55353	broad.mit.edu	37	chr8	98863639	98863639	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggtgctgctacccccGtatgatgatgccactgtgaa	8	11	10	12	1	1	3	1	3	1	0	2	3	1	3	3	1	4	3	3	1	3	2	rs147233429		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr8:98863639G>A	uc003yia.3	+	6	1047	c.891G>A	c.(889-891)ccG>ccA	p.P297P	LAPTM4B_uc010mbg.3_Silent_p.P129P	NM_018407	NP_060877	Q86VI4	LAP4B_HUMAN	Homo sapiens lysosomal protein transmembrane 4 beta (LAPTM4B), mRNA.	350					transport	endomembrane system|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	10	Breast(36;1.59e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.149)			TGCTACCCCCGTATGATGATG	0.527													A	98863639	G	A	98863639	2	1	173	1	0	0	0	0	0	0	0	1	8684	1132	40	1		1	LAPTM4B	8	98863639	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	61252102	98863639	47500383	23	12056											
AK1	203	broad.mit.edu	37	chr9	130630690	130630691	+	Frame_Shift_Ins	INS	-	-	T																															gctttttgatggtctcctcaINSttgtcgtccacacgcccgct																										TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr9:130630690_130630691insT	uc004bsm.4	-	5	578_579	c.425_426insA	c.(424-426)aatfs	p.N142fs		NM_000476	NP_000467	P00568	KAD1_HUMAN	Homo sapiens adenylate kinase 1 (AK1), mRNA.	142					ATP metabolic process|nucleobase, nucleoside and nucleotide interconversion	cytosol	adenylate kinase activity|ATP binding|protein binding			endometrium(1)|prostate(1)	2						TGGTCTCCTCATTGTCGTCCAC	0.574													T	130630691	-	T	130630690	7	5	173	1	0	1	1	0	0	0	0	0	439	214	8	0	166	0	AK1	9	130630690	Frame_Shift_Ins	INS	-	TCGA-26-1442-01A-01D-1696-08		130630690	10582741	24	12057											
DLG5	9231	broad.mit.edu	37	chr10	79581222	79581222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggtgtcagaggccccGccctcttggagggctgggga	4	8	19	10	1	2	1	1	0	1	1	2	3	2	3	3	7	0	1	3	7	0	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:79581222G>A	uc001jzk.3	-	14	3090	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	DLG5_uc001jzi.3_5'Flank|DLG5_uc001jzj.3_Intron|DLG5_uc009xru.1_Non-coding_Transcript|DLG5_uc001jzl.4_Missense_Mutation_p.A611V	NM_004747	NP_004738	Q8TDM6	DLG5_HUMAN	Homo sapiens discs, large homolog 5 (Drosophila) (DLG5), mRNA.	1007	Pro-rich.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CAGAGGCCCCGCCCTCTTGGA	0.592													A	79581222	G	A	79581222	3	1	173	1	0	0	0	0	1	0	0	0	4597	1087	38	1	2811	1	DLG5	10	79581222	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		79581222	55953525	25	12058											
CDHR1	92211	broad.mit.edu	37	chr10	85972090	85972090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcacactgctggatgtcaAtgaccacccccctcagtttg	9	11	7	14	0	3	1	3	1	0	0	3	2	3	2	4	1	1	2	4	1	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr10:85972090A>G	uc001kcv.3	+	14	1814	c.1709A>G	c.(1708-1710)aAt>aGt	p.N570S	CDHR1_uc001kcw.3_Missense_Mutation_p.N570S|CDHR1_uc009xst.3_Missense_Mutation_p.N274S|CDHR1_uc001kcx.3_5'Flank	NM_033100	NP_149091	Q96JP9	CDHR1_HUMAN	Homo sapiens cadherin-related family member 1 (CDHR1), transcript variant 1, mRNA.	570	Cadherin 5.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGGATGTCAATGACCACCCC	0.522													G	85972090	A	G	85972090	3	3	173	1	0	0	0	0	1	0	0	0	3148	101	4	3	1767	3	CDHR1	10	85972090	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	6390868	85972090	49562657	26	12059											
TRPM5	29850	broad.mit.edu	37	chr11	2434731	2434731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatgaggttggtatagaCgagggcggggcagaggaagg	10	6	22	3	2	0	4	0	2	0	2	0	6	0	5	0	8	0	3	0	8	3	3	rs149949624	byFrequency	TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:2434731C>T	uc010qxl.2	-	12	1987	c.1978G>A	c.(1978-1980)Gtc>Atc	p.V660I	TRPM5_uc001lwm.4_Missense_Mutation_p.V660I|TRPM5_uc009ydn.3_Missense_Mutation_p.V662I	NM_014555	NP_055370	Q9NZQ8	TRPM5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 5 (TRPM5), mRNA.	660						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		TTGGTATAGACGAGGGCGGGG	0.677													T	2434731	C	T	2434731	3	4	173	1	0	0	0	0	1	0	0	0	16690	536	19	1	1567	1	TRPM5	11	2434731	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08		2434731	132571785	27	12060											
OR52B6	340980	broad.mit.edu	37	chr11	5602310	5602310	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggcatcctaatttgtgtCatcctctcccaggcaatcct	9	13	6	13	0	2	0	1	0	1	0	6	0	5	0	4	2	0	2	4	2	3	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5602310C>A	uc010qzi.2	+	0	204	c.204C>A	c.(202-204)gtC>gtA	p.V68V	HBG1_uc001mak.1_Intron	NM_001005162	NP_001005162	Q8NGF0	O52B6_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 6 (OR52B6), mRNA.	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAATTTGTGTCATCCTCTCCC	0.522													A	5602310	C	A	5602310	2	1	173	1	0	0	0	0	0	0	0	1	11189	813	29	4		4	OR52B6	11	5602310	Silent	SNP	C	TCGA-26-1442-01A-01D-1696-08	3167579	5602310	129404206	28	12061											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5656037	5656037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagcagttggtgagagaGctcatctcagatgtggagtg	11	9	15	6	0	2	4	2	1	1	3	3	6	2	5	0	2	2	3	0	2	1	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:5656037G>T	uc001mbh.3	+	3	853	c.696G>T	c.(694-696)gaG>gaT	p.E232D	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc001mbf.3_Missense_Mutation_p.E586D|TRIM6-TRIM34_uc001mbi.3_Missense_Mutation_p.E232D|TRIM6-TRIM34_uc001mbj.3_Missense_Mutation_p.E232D	NM_001003827	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens tripartite motif containing 34 (TRIM34), transcript variant 4, mRNA.	586						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		TGGTGAGAGAGCTCATCTCAG	0.488													T	5656037	G	T	5656037	3	4	173	1	0	0	0	0	1	0	0	0	16635	962	34	4	1796	4	TRIM6-TRIM34	11	5656037	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	53727	5656037	129350479	29	12062											
MRVI1	10335	broad.mit.edu	37	chr11	10673684	10673684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgtgtgcccggaacctccGctgcgtcagccccaaagatg	8	6	11	16	4	1	1	1	0	0	1	2	2	2	2	5	1	4	1	5	1	2	0			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:10673684G>A	uc010rcc.1	-	1	499	c.113C>T	c.(112-114)gCg>gTg	p.A38V	MRVI1_uc010rcb.1_Missense_Mutation_p.A29V|MRVI1_uc001miw.2_Missense_Mutation_p.A29V|MRVI1_uc001mix.3_5'UTR|MRVI1_uc001miz.2_Intron|MRVI1_uc010rcd.1_Missense_Mutation_p.A38V|MRVI1_uc009ygd.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	29					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		CGGAACCTCCGCTGCGTCAGC	0.647													A	10673684	G	A	10673684	3	1	173	1	0	0	0	0	1	0	0	0	9929	1087	38	1	2705	1	MRVI1	11	10673684	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5017647	10673684	124332832	30	12063											
MS4A8B	83661	broad.mit.edu	37	chr11	60470903	60470903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggctccatcatggCgacggttctcgtaggggaat	6	9	14	12	5	2	0	1	0	1	0	5	2	3	1	2	6	0	3	2	6	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:60470903C>T	uc001npv.3	+	2	475	c.272C>T	c.(271-273)gCg>gTg	p.A91V	MS4A8B_uc009yne.1_Missense_Mutation_p.A91V	NM_031457	NP_113645	Q9BY19	M4A8B_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 8B (MS4A8B), mRNA.	91						integral to membrane	receptor activity	p.A91A(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCCATCATGGCGACGGTTCTC	0.552													T	60470903	C	T	60470903	3	4	173	1	0	0	0	0	1	0	0	0	9943	768	27	1	278	1	MS4A8B	11	60470903	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	49797219	60470903	74535613	31	12064											
HRASLS5	117245	broad.mit.edu	37	chr11	63257740	63257740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgcttctgccctgttCtaatgtgcccggcggaggct	4	12	13	12	2	2	0	0	0	2	0	2	2	2	2	2	4	3	3	2	4	1	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr11:63257740C>G	uc001nwy.2	-	1	418	c.244G>C	c.(244-246)Gaa>Caa	p.E82Q	HRASLS5_uc001nwz.2_Missense_Mutation_p.E72Q|HRASLS5_uc010rmq.1_Missense_Mutation_p.E82Q|HRASLS5_uc009yos.2_Non-coding_Transcript	NM_054108	NP_473449	Q96KN8	HRSL5_HUMAN	Homo sapiens HRAS-like suppressor family, member 5 (HRASLS5), transcript variant 1, mRNA.	82								p.L81L(1)		endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	14						CTGCCCTGTTCTAATGTGCCC	0.498													G	63257740	C	G	63257740	3	3	173	1	0	0	0	0	1	0	0	0	7406	922	32	4	615	4	HRASLS5	11	63257740	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	2786837	63257740	71748776	32	12065											
PFKM	5213	broad.mit.edu	37	chr12	48529142	48529142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgcagaggggtgggacGccatcagcctttgacagaat	10	8	14	9	1	1	3	1	1	0	2	1	4	1	4	2	3	2	1	2	3	1	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:48529142G>A	uc001rrb.2	+	11	1399	c.1125G>A	c.(1123-1125)acG>acA	p.T375T	PFKM_uc001rra.2_5'UTR|PFKM_uc001rrc.3_Silent_p.T304T|PFKM_uc001rrd.3_5'UTR|PFKM_uc001rre.2_Silent_p.T304T|PFKM_uc021qxj.1_Silent_p.T304T|PFKM_uc001rrg.2_Intron	NM_001166686	NP_001160160	P08237	K6PF_HUMAN	Homo sapiens phosphofructokinase, muscle (PFKM), transcript variant 1, mRNA.	304					fructose 6-phosphate metabolic process|glycolysis|muscle cell homeostasis	6-phosphofructokinase complex|apical plasma membrane	6-phosphofructokinase activity|ATP binding|identical protein binding|kinase binding|metal ion binding|protein C-terminus binding			NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						GGGGTGGGACGCCATCAGCCT	0.572													A	48529142	G	A	48529142	2	1	173	1	0	0	0	0	0	0	0	1	11842	1074	38	1		1	PFKM	12	48529142	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08		48529142	85322753	33	12066											
ESPL1	9700	broad.mit.edu	37	chr12	53663316	53663316	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctccaacagcctgtcGagcggtagctgcccatcagc	7	9	10	15	2	2	0	1	0	1	0	4	1	2	0	3	1	7	3	3	1	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53663316G>T	uc001sck.2	+	2	681	c.590G>T	c.(589-591)cGa>cTa	p.R197L	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	197					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACAGCCTGTCGAGCGGTAGCT	0.517													T	53663316	G	T	53663316	3	4	173	1	0	0	0	0	1	0	0	0	5294	1058	37	4	596	4	ESPL1	12	53663316	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	5134174	53663316	80188579	34	12067											
SP1	6667	broad.mit.edu	37	chr12	53804896	53804896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccactccttcagcccttAttaccaccaatatggtagcc	9	11	5	16	0	1	0	1	0	0	0	2	0	2	0	6	1	4	1	6	1	5	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:53804896A>T	uc001scw.3	+	5	2327	c.2230A>T	c.(2230-2232)Att>Ttt	p.I744F	SP1_uc021qyf.1_Missense_Mutation_p.I696F|SP1_uc010sog.2_Missense_Mutation_p.I737F	NM_138473	NP_612482	P08047	SP1_HUMAN	Homo sapiens Sp1 transcription factor (SP1), transcript variant 1, mRNA.	744	Domain D.|VZV IE62-binding.				positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	double-stranded DNA binding|histone deacetylase binding|HMG box domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.00527)		TTCAGCCCTTATTACCACCAA	0.572													T	53804896	A	T	53804896	3	4	173	1	0	0	0	0	1	0	0	0	15053	449	16	5	2252	5	SP1	12	53804896	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	141580	53804896	80046999	35	12068											
ITGA7	3679	broad.mit.edu	37	chr12	56087909	56087909	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggggaatggccattcTggcgtggagaggtcagaaca	9	9	16	7	1	2	2	1	0	1	2	2	4	2	3	1	6	2	1	1	6	2	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:56087909T>C	uc001shh.3	-	19	2665	c.2445_splice	c.e19-1	p.G815_splice	ITGA7_uc001shg.3_Splice_Site_p.G811_splice|ITGA7_uc010sps.2_Splice_Site_p.G718_splice|ITGA7_uc009znw.3_Splice_Site_p.G58_splice|ITGA7_uc009znx.3_Splice_Site_p.G692_splice	NM_001144996	NP_001138468	Q13683	ITA7_HUMAN	Homo sapiens integrin, alpha 7 (ITGA7), transcript variant 1, mRNA.	855					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						ATGGCCATTCTGGCGTGGAGA	0.592													C	56087909	T	C	56087909	5	2	173	1	0	0	0	0	0	0	1	0	7939	1594	55	3	1010	3	ITGA7	12	56087909	Splice_Site	SNP	T	TCGA-26-1442-01A-01D-1696-08	2283013	56087909	77763986	36	12069											
MTERFD3	80298	broad.mit.edu	37	chr12	107372183	107372183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttggactacagacaattgCttccgggcagcgttccaaaa	11	9	11	10	2	0	1	0	0	0	1	2	2	2	2	2	3	3	4	2	3	4	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:107372183C>T	uc001tme.1	-	1	2129	c.310G>A	c.(310-312)Gca>Aca	p.A104T	MTERFD3_uc001tmf.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmg.1_Missense_Mutation_p.A104T|MTERFD3_uc021rdh.1_Missense_Mutation_p.A104T|MTERFD3_uc001tmh.1_Missense_Mutation_p.A104T	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CAGACAATTGCTTCCGGGCAG	0.423													T	107372183	C	T	107372183	3	4	173	1	0	0	0	0	1	0	0	0	9997	797	28	2	851	2	MTERFD3	12	107372183	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	51284274	107372183	26479712	37	12070											
EIF2B1	1967	broad.mit.edu	37	chr12	124116941	124116941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggatggcagccactgcTgaggccatgtcaggatcttc	7	9	13	12	1	2	1	1	1	1	0	4	3	3	3	3	4	2	2	3	4	0	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:124116941T>C	uc001ufm.3	-	1	285	c.66A>G	c.(64-66)tcA>tcG	p.S22S	GTF2H3_uc001ufo.1_5'Flank|GTF2H3_uc010tau.1_5'Flank|EIF2B1_uc010tat.2_Silent_p.S22S	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	22					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		CAGCCACTGCTGAGGCCATGT	0.398													C	124116941	T	C	124116941	2	2	173	1	0	0	0	0	0	0	0	1	5039	1567	55	3		3	EIF2B1	12	124116941	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	16744758	124116941	9734954	38	12071											
FZD10	11211	broad.mit.edu	37	chr12	130648643	130648643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaccggggtctgctacGtgggcagcatggacgtcaac	8	7	14	12	3	3	0	2	0	1	0	3	1	3	1	1	4	5	4	1	4	2	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr12:130648643G>A	uc001uii.3	+	0	1640	c.1156G>A	c.(1156-1158)Gtg>Atg	p.V386M	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	386					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GGTCTGCTACGTGGGCAGCAT	0.657													A	130648643	G	A	130648643	3	1	173	1	0	0	0	0	1	0	0	0	6181	1145	40	1	1158	1	FZD10	12	130648643	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	6531702	130648643	3203252	39	12072											
SLC15A1	6564	broad.mit.edu	37	chr13	99378425	99378425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagctccgagaattggcGtcaggtagcacagagccaca	13	6	12	10	2	1	3	1	0	0	3	2	4	2	3	2	2	3	3	2	2	3	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr13:99378425G>A	uc001vno.3	-	3	274	c.197C>T	c.(196-198)aCg>aTg	p.T66M	SLC15A1_uc001vnp.1_Missense_Mutation_p.T34M	NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	66					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	GAGAATTGGCGTCAGGTAGCA	0.463													A	99378425	G	A	99378425	3	1	173	1	0	0	0	0	1	0	0	0	14492	1145	40	1	2009	1	SLC15A1	13	99378425	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		99378425	15791453	40	12073											
CHD8	57680	broad.mit.edu	37	chr14	21870120	21870120	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagacagaacatgccttaGcaaaggtggaaccttttcct	13	10	8	10	0	0	2	0	0	0	2	1	3	1	3	3	2	4	1	3	2	5	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:21870120G>C	uc001war.2	-	18	4123	c.4058C>G	c.(4057-4059)gCt>gGt	p.A1353G	CHD8_uc001was.2_Missense_Mutation_p.A1074G|CHD8_uc001wav.1_Missense_Mutation_p.A516G	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	1353					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		ACATGCCTTAGCAAAGGTGGA	0.428													C	21870120	G	C	21870120	3	2	173	1	0	0	0	0	1	0	0	0	3361	971	34	4	3763	4	CHD8	14	21870120	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		21870120	85479420	41	12074											
NYNRIN	57523	broad.mit.edu	37	chr14	24878580	24878580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggaagcccgtggctcaagGggggctgacagatcagtcag	10	5	17	9	1	3	2	3	1	0	1	3	3	3	3	1	5	1	2	1	5	2	0			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:24878580G>A	uc001wpf.4	+	3	1898	c.1580G>A	c.(1579-1581)gGg>gAg	p.G527E		NM_025081	NP_079357	Q9P2P1	NYNRI_HUMAN	Homo sapiens NYN domain and retroviral integrase containing (NYNRIN), mRNA.	527					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						GTGGCTCAAGGGGGGCTGACA	0.567													A	24878580	G	A	24878580	3	1	173	1	0	0	0	0	1	0	0	0	10872	1232	43	2	1590	2	NYNRIN	14	24878580	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	3008460	24878580	82470960	42	12075											
FRMD6	122786	broad.mit.edu	37	chr14	52194629	52194629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgaggaaggcctctattGcaacagttgcttggcccagc	9	9	13	10	0	1	1	0	1	1	0	1	3	1	3	2	4	4	3	2	4	3	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:52194629G>A	uc001wzd.3	+	13	2036	c.1751G>A	c.(1750-1752)tGc>tAc	p.C584Y	FRMD6_uc001wzb.3_Missense_Mutation_p.C576Y|FRMD6_uc001wzc.3_Missense_Mutation_p.C576Y|FRMD6_uc001wze.3_Missense_Mutation_p.C507Y|FRMD6_uc001wzf.3_Missense_Mutation_p.C277Y|FRMD6_uc001wzg.3_Missense_Mutation_p.C226Y	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	584						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					GGCCTCTATTGCAACAGTTGC	0.468													A	52194629	G	A	52194629	3	1	173	1	0	0	0	0	1	0	0	0	6106	1319	46	2	1777	2	FRMD6	14	52194629	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	27316049	52194629	55154911	43	12076											
SYNE2	23224	broad.mit.edu	37	chr14	64540771	64540771	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaaaagagataattgctTtgaagaatttctttcaacag	16	13	6	6	0	3	3	2	1	1	2	3	4	3	3	0	0	2	1	0	0	6	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr14:64540771T>C	uc001xgl.3	+	52	11013	c.10783T>C	c.(10783-10785)Ttg>Ctg	p.L3595L	SYNE2_uc001xgm.3_Silent_p.L3595L|SYNE2_uc021ruh.1_Silent_p.L3628L|SYNE2_uc010apy.3_5'Flank|SYNE2_uc010apw.1_Silent_p.L301L|SYNE2_uc010apx.1_5'UTR	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	3595					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GATAATTGCTTTGAAGAATTT	0.358													C	64540771	T	C	64540771	2	2	173	1	0	0	0	0	0	0	0	1	15543	1838	64	3		3	SYNE2	14	64540771	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	12346142	64540771	42808769	44	12077											
TUBGCP5	114791	broad.mit.edu	37	chr15	22835924	22835924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttaatagatttcatcGtttcttggatgtcaacagcc	9	17	7	8	1	4	1	2	0	2	1	5	2	4	2	1	1	2	1	1	1	3	6	rs143778036		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr15:22835924G>T	uc001yuq.2	+	1	285	c.155G>T	c.(154-156)cGt>cTt	p.R52L	TUBGCP5_uc001yur.4_Missense_Mutation_p.R52L	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	52					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		AGATTTCATCGTTTCTTGGAT	0.368													T	22835924	G	T	22835924	3	4	173	1	0	0	0	0	1	0	0	0	16871	1145	40	4	161	4	TUBGCP5	15	22835924	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		22835924	79695468	45	12078											
KCTD19	146212	broad.mit.edu	37	chr16	67331487	67331487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctcgtaggtgatgtcccTtttgtctaggaaggcacaga	8	12	13	8	1	1	2	0	1	1	1	3	3	2	3	1	4	0	3	1	4	3	4			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr16:67331487T>C	uc002esu.2	-	6	1117	c.1066A>G	c.(1066-1068)Agg>Ggg	p.R356G	KCTD19_uc002est.2_Missense_Mutation_p.R128G|KCTD19_uc010vjj.1_Missense_Mutation_p.R99G	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GTGATGTCCCTTTTGTCTAGG	0.517													C	67331487	T	C	67331487	3	2	173	1	0	0	0	0	1	0	0	0	8164	1608	56	3	1754	3	KCTD19	16	67331487	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		67331487	23023266	46	12079											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:7577121G>A	uc002gim.2	-	7	1011	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141C|TP53_uc010cnf.1_Missense_Mutation_p.R141C|TP53_uc002gii.1_Missense_Mutation_p.R141C|TP53_uc010cni.1_Missense_Mutation_p.R273C|TP53_uc010cnh.1_Missense_Mutation_p.R273C|TP53_uc002gij.2_Missense_Mutation_p.R273C|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(952)|p.R273H(519)|p.R273L(92)|p.V272M(75)|p.R273P(31)|p.R273S(30)|p.V272L(26)|p.R273G(18)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.R273fs*72(5)|p.V272G(5)|p.R273fs*33(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*32(3)|p.V272>?(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.F270fs*72(1)|p.S269fs*21(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(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)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	173	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		7577121	73618089	47	12080											
DNAH9	1770	broad.mit.edu	37	chr17	11696846	11696846	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctcctcagtggaatgTgtgaaatccacatgggatct	9	13	9	10	0	4	1	1	1	3	0	6	3	5	3	2	2	0	0	2	2	2	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:11696846T>C	uc002gne.3	+	41	8156	c.8088T>C	c.(8086-8088)tgT>tgC	p.C2696C	DNAH9_uc010coo.3_Silent_p.C1990C	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2696					cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTGGAATGTGTGAAATCCA	0.388													C	11696846	T	C	11696846	2	2	173	1	0	0	0	0	0	0	0	1	4647	1702	59	3		3	DNAH9	17	11696846	Silent	SNP	T	TCGA-26-1442-01A-01D-1696-08	4119725	11696846	69498364	48	12081											
BPTF	2186	broad.mit.edu	37	chr17	65862640	65862640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattacagcacaaaggtccaActtgcagaattaattgactg	15	11	7	8	0	0	2	0	1	0	1	1	2	1	2	1	1	4	2	1	1	6	5			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr17:65862640A>G	uc002jgf.3	+	2	1558	c.1497A>G	c.(1495-1497)caA>caG	p.Q499Q	BPTF_uc002jge.3_Silent_p.Q499Q|BPTF_uc010wqm.1_Silent_p.Q499Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	499					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAAAGGTCCAACTTGCAGAAT	0.343													G	65862640	A	G	65862640	2	3	173	1	0	0	0	0	0	0	0	1	1504	40	2	3		3	BPTF	17	65862640	Silent	SNP	A	TCGA-26-1442-01A-01D-1696-08	54165794	65862640	15332570	49	12082											
MIB1	57534	broad.mit.edu	37	chr18	19321653	19321653	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acggcggcgagggccatgtgGgcaccgtccggagcttcgag	6	5	18	12	6	0	0	0	0	0	0	2	3	1	1	3	5	1	2	3	5	0	1			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:19321653G>C	uc002ktq.3	+	0	109	c.109G>C	c.(109-111)Ggc>Cgc	p.G37R	MIB1_uc002ktp.3_Intron	NM_020774	NP_065825	Q86YT6	MIB1_HUMAN	Homo sapiens mindbomb homolog 1 (Drosophila) (MIB1), mRNA.	37	MIB/HERC2 1.				Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			GGGCCATGTGGGCACCGTCCG	0.677													C	19321653	G	C	19321653	3	2	173	1	0	0	0	0	1	0	0	0	9641	1232	43	4	111	4	MIB1	18	19321653	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		19321653	58755595	50	12083											
SOCS6	9306	broad.mit.edu	37	chr18	67992496	67992496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagagctcggcttctcatAatggagacctgcatcttcac	10	11	9	11	1	3	3	2	1	2	2	5	4	3	3	1	2	2	3	1	2	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr18:67992496A>G	uc002lkr.1	+	1	908	c.592A>G	c.(592-594)Aat>Gat	p.N198D	SOCS6_uc010dqq.2_Missense_Mutation_p.N198D|SOCS6_uc021ulj.1_Missense_Mutation_p.N198D	NM_004232	NP_004223	O14544	SOCS6_HUMAN	Homo sapiens suppressor of cytokine signaling 6 (SOCS6), mRNA.	198					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)				GGCTTCTCATAATGGAGACCT	0.512													G	67992496	A	G	67992496	3	3	173	1	0	0	0	0	1	0	0	0	15012	362	13	3	594	3	SOCS6	18	67992496	Missense_Mutation	SNP	A	TCGA-26-1442-01A-01D-1696-08	48670843	67992496	10084752	51	12084											
LMNB2	84823	broad.mit.edu	37	chr19	2444529	2444529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactcgtacagcgccttgaTgccactcacctggggagacc	8	7	11	15	3	1	2	1	1	0	1	2	4	1	2	4	2	3	1	4	2	1	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:2444529T>C	uc002lvy.3	-	1	301	c.214A>G	c.(214-216)Atc>Gtc	p.I72V		NM_032737	NP_116126	Q03252	LMNB2_HUMAN	Homo sapiens lamin B2 (LMNB2), mRNA.	72	Linker 1.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		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)		AGCGCCTTGATGCCACTCACC	0.642													C	2444529	T	C	2444529	3	2	173	1	0	0	0	0	1	0	0	0	8911	1464	51	3	1632	3	LMNB2	19	2444529	Missense_Mutation	SNP	T	TCGA-26-1442-01A-01D-1696-08		2444529	56684454	52	12085											
PGLS	25796	broad.mit.edu	37	chr19	17626983	17626983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctctgttggctgcagaCgcatcttctctccagactgc	5	12	9	15	1	3	2	0	0	3	2	6	2	5	2	2	1	2	4	2	1	0	2	rs143569199		TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:17626983C>T	uc002ngw.3	+	2	339	c.289_splice	c.e2-1	p.T97_splice		NM_012088	NP_036220	O95336	6PGL_HUMAN	Homo sapiens 6-phosphogluconolactonase (PGLS), mRNA.	97						cytosol	6-phosphogluconolactonase activity			endometrium(1)|lung(1)	2						TGGCTGCAGACGCATCTTCTC	0.537													T	17626983	C	T	17626983	3	4	173	1	0	0	0	0	1	0	0	0	11869	550	19	1	296	1	PGLS	19	17626983	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08	15182454	17626983	41502000	53	12086											
ZNF233	353355	broad.mit.edu	37	chr19	44778066	44778066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaacttcaagcccatcagaGaggtcactctagagacaaga	16	6	8	11	0	4	3	3	0	1	3	4	5	4	3	1	1	2	0	1	1	4	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:44778066G>A	uc021uvi.1	+	4	1359	c.1253G>A	c.(1252-1254)aGa>aAa	p.R418K	ZNF235_uc002oyx.1_Intron|ZNF235_uc010eji.3_Intron|ZNF233_uc002oyy.2_Missense_Mutation_p.R233K|ZNF233_uc002oyz.2_Missense_Mutation_p.R418K	NM_001207005	NP_001193934	A6NK53	ZN233_HUMAN	Homo sapiens zinc finger protein 233 (ZNF233), transcript variant 2, mRNA.	418					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				GCCCATCAGAGAGGTCACTCT	0.418													A	44778066	G	A	44778066	3	1	173	1	0	0	0	0	1	0	0	0	17887	942	33	2	1267	2	ZNF233	19	44778066	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08	27151083	44778066	14350917	54	12087											
PEG3	5178	broad.mit.edu	37	chr19	57328400	57328400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctctagtatgcatgatctgGtgctcaacaaattctgagat	11	14	8	8	0	4	2	1	2	3	1	5	3	4	2	0	1	3	3	0	1	4	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr19:57328400G>A	uc002qnu.2	-	6	1761	c.1410C>T	c.(1408-1410)caC>caT	p.H470H	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Silent_p.H441H|PEG3_uc002qnv.2_Silent_p.H470H|PEG3_uc002qnw.2_Silent_p.H346H|PEG3_uc002qnx.2_Silent_p.H344H|PEG3_uc010etr.2_Silent_p.H470H	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	470					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GCATGATCTGGTGCTCAACAA	0.458													A	57328400	G	A	57328400	2	1	173	1	0	0	0	0	0	0	0	1	11796	1252	44	2		2	PEG3	19	57328400	Silent	SNP	G	TCGA-26-1442-01A-01D-1696-08	12550334	57328400	1800583	55	12088											
ACOT8	10005	broad.mit.edu	37	chr20	44477248	44477248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcacggccttcacagagCgcaccgagaagctcgaccct	9	6	11	15	4	1	2	1	0	0	2	2	4	1	2	3	1	3	4	3	1	1	2			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chr20:44477248C>T	uc002xqa.2	-	2	423	c.329G>A	c.(328-330)cGc>cAc	p.R110H	ACOT8_uc010zxe.2_Missense_Mutation_p.R110H|ACOT8_uc002xqc.2_Missense_Mutation_p.R57H|ACOT8_uc010zxf.2_Intron	NM_005469	NP_005460	O14734	ACOT8_HUMAN	Homo sapiens acyl-CoA thioesterase 8 (ACOT8), mRNA.	110					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				CTTCACAGAGCGCACCGAGAA	0.627													T	44477248	C	T	44477248	3	4	173	1	0	0	0	0	1	0	0	0	156	768	27	1	646	1	ACOT8	20	44477248	Missense_Mutation	SNP	C	TCGA-26-1442-01A-01D-1696-08		44477248	18548272	56	12089											
KDM5C	8242	broad.mit.edu	37	chrX	53223866	53223866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggccgaattggtgcgacGcagctgcaggataccctcct	7	9	12	13	3	0	0	0	0	0	0	1	3	1	1	3	3	4	3	3	3	2	3			TCGA-26-1442-01A-01D-1696-08	TCGA-26-1442-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17e25583-886e-4dc9-802b-35e67971073d	251ab65c-abbf-4357-902b-bb1f5070536d	g.chrX:53223866G>A	uc004drz.3	-	22	4026	c.3493C>T	c.(3493-3495)Cgt>Tgt	p.R1165C	KDM5C_uc022bxe.1_Missense_Mutation_p.R1098C|KDM5C_uc004dsa.3_Missense_Mutation_p.R1164C|AY927613_uc004dsb.1_Non-coding_Transcript	NM_004187	NP_004178	P41229	KDM5C_HUMAN	Homo sapiens lysine (K)-specific demethylase 5C (KDM5C), transcript variant 1, mRNA.	1165					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTGGTGCGACGCAGCTGCAGG	0.612			"N, F, S"		clear cell renal carcinoma								A	53223866	G	A	53223866	3	1	173	1	0	0	0	0	1	0	0	0	8193	1087	38	1	1303	1	KDM5C	23	53223866	Missense_Mutation	SNP	G	TCGA-26-1442-01A-01D-1696-08		53223866	102046694	57	12090											
DNAJC16	23341	broad.mit.edu	37	chr1	15873341	15873341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttctgtttgaccaaaCgcccattgtgccactgttat	7	15	7	12	1	1	1	0	1	1	0	2	1	2	1	4	0	2	2	4	0	2	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:15873341C>T	uc001aws.3	+	5	959	c.839C>T	c.(838-840)aCg>aTg	p.T280M	DNAJC16_uc001awr.1_Missense_Mutation_p.T280M|DNAJC16_uc001awt.3_5'UTR	NM_015291	NP_056106	Q9Y2G8	DJC16_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 16 (DNAJC16), mRNA.	280					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	p.T280T(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		TTTGACCAAACGCCCATTGTG	0.328													T	15873341	C	T	15873341	3	4	174	1	0	0	0	0	1	0	0	0	4674	536	19	1	857	1	DNAJC16	1	15873341	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		15873341	233377280	1	12091											
MACF1	23499	broad.mit.edu	37	chr1	39907987	39907987	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgagaaaattgcccacCgacaggtaaggcaggtggta	12	7	15	7	1	0	1	0	1	0	1	0	3	0	1	2	5	1	3	2	5	4	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:39907987C>T	uc021olw.1	+	40	14272	c.14272C>T	c.(14272-14274)Cga>Tga	p.R4758*	MACF1_uc021ols.1_Nonsense_Mutation_p.R4253*|MACF1_uc021olt.1_Nonsense_Mutation_p.R4256*	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6323					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AATTGCCCACCGACAGGTAAG	0.443													T	39907987	C	T	39907987	4	4	174	1	0	0	0	0	0	1	0	0	9215	644	23	1	19203	1	MACF1	1	39907987	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	24034646	39907987	209342634	2	12092											
KCNQ4	9132	broad.mit.edu	37	chr1	41284177	41284177	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcccccgcccctgcagActtcatcgtgttcgtggcct	3	9	10	19	5	1	1	1	0	0	1	3	1	1	1	6	1	1	2	6	1	0	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:41284177A>G	uc001cgh.2	+	4	615	c.533_splice	c.e4-1	p.D178_splice	KCNQ4_uc001cgi.2_Splice_Site_p.D178_splice	NM_004700	NP_004691	P56696	KCNQ4_HUMAN	Homo sapiens potassium voltage-gated channel, KQT-like subfamily, member 4 (KCNQ4), transcript variant 1, mRNA.	178					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GCCCCTGCAGACTTCATCGTG	0.701													G	41284177	A	G	41284177	3	3	174	1	0	0	0	0	1	0	0	0	8143	289	10	3	547	3	KCNQ4	1	41284177	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1376190	41284177	207966444	3	12093											
MYSM1	114803	broad.mit.edu	37	chr1	59141202	59141202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctactgcatcttttctgtCtctgattcgtactttgtcaa	6	20	5	10	1	5	1	1	1	4	0	7	1	5	1	0	0	3	2	0	0	3	7			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:59141202C>T	uc009wab.2	-	9	1464	c.1441G>A	c.(1441-1443)Gac>Aac	p.D481N	MYSM1_uc001czc.3_Non-coding_Transcript	NM_001085487	NP_001078956	Q5VVJ2	MYSM1_HUMAN	Homo sapiens Myb-like, SWIRM and MPN domains 1 (MYSM1), mRNA.	481					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					TCTTTTCTGTCTCTGATTCGT	0.408													T	59141202	C	T	59141202	3	4	174	1	0	0	0	0	1	0	0	0	10177	913	32	2	1089	2	MYSM1	1	59141202	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	17857025	59141202	190109419	4	12094											
GJA5	2702	broad.mit.edu	37	chr1	147230552	147230552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcactgattaaagtcGgggggtggtgtgcagctctg	7	10	16	8	1	1	1	0	1	1	0	3	1	2	1	1	5	2	3	1	5	2	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:147230552G>A	uc021ovl.1	-	0	795	c.795C>T	c.(793-795)ccC>ccT	p.P265P	GJA5_uc001eps.1_Silent_p.P265P|GJA5_uc001ept.1_Silent_p.P265P	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	265					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.P265P(2)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GATTAAAGTCGGGGGGTGGTG	0.532													A	147230552	G	A	147230552	2	1	174	1	0	0	0	0	0	0	0	1	6460	1103	39	1		1	GJA5	1	147230552	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	88089350	147230552	102020069	5	12095											
PRPF3	9129	broad.mit.edu	37	chr1	150318611	150318611	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacgtggtagtagtggaaggGggtgagtctgaaaaacttga	13	9	16	3	1	1	3	0	3	1	0	1	4	1	4	0	4	2	2	0	4	6	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:150318611G>A	uc001eum.4	+	13	1921	c.1759_splice	c.e13+1	p.G587_splice	PRPF3_uc009wlp.2_Splice_Site|PRPF3_uc010pca.2_Splice_Site_p.G546_splice|PRPF3_uc010pcb.2_Splice_Site_p.G538_splice|PRPF3_uc009wlq.1_Splice_Site	NM_004698	NP_004689	O43395	PRPF3_HUMAN	Homo sapiens PRP3 pre-mRNA processing factor 3 homolog (S. cerevisiae) (PRPF3), mRNA.	587					nuclear mRNA splicing, via spliceosome	Cajal body|cytoplasm|nuclear speck|spliceosomal complex	protein binding			breast(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Lung NSC(24;5.57e-29)|Breast(34;0.000844)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)	Colorectal(1306;0.0149)		TAGTGGAAGGGGGTGAGTCTG	0.488													A	150318611	G	A	150318611	2	1	174	1	0	0	0	0	0	0	0	1	12651	1246	43	2		2	PRPF3	1	150318611	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	3088059	150318611	98932010	6	12096											
FAM5C	339479	broad.mit.edu	37	chr1	190234152	190234152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgtttgctcaacttcCgcttgtccacaaaaattgtg	9	13	7	12	2	1	0	1	0	0	0	4	0	3	0	2	0	3	4	2	0	3	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:190234152C>T	uc001gse.1	-	3	693	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	FAM5C_uc010pot.1_Missense_Mutation_p.R52Q	NM_199051	NP_950252	Q76B58	FAM5C_HUMAN	Homo sapiens family with sequence similarity 5, member C (FAM5C), mRNA.	154						extracellular region		p.K153Q(1)		NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(18)|lung(98)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(7)|urinary_tract(2)	164	Prostate(682;0.198)					GCTCAACTTCCGCTTGTCCAC	0.388													T	190234152	C	T	190234152	3	4	174	1	0	0	0	0	1	0	0	0	5644	652	23	1	1859	1	FAM5C	1	190234152	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	39915541	190234152	59016469	7	12097											
LYST	1130	broad.mit.edu	37	chr1	235922440	235922440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcaatagtgctgtggcttCgctggaaggaggccaatccc	8	10	13	10	1	0	0	0	0	0	0	2	2	1	2	2	4	2	4	2	4	4	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr1:235922440C>T	uc001hxj.2	-	22	6888	c.6713G>A	c.(6712-6714)cGa>cAa	p.R2238Q	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	2238					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GCTGTGGCTTCGCTGGAAGGA	0.527													T	235922440	C	T	235922440	3	4	174	1	0	0	0	0	1	0	0	0	9199	884	31	1	4816	1	LYST	1	235922440	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	45688288	235922440	13328181	8	12098											
FBXO41	150726	broad.mit.edu	37	chr2	73493658	73493658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggctggcgctgggcGtgctgccacagctgctgctg	3	7	17	14	2	0	0	0	0	0	0	0	0	0	0	2	4	5	6	2	4	0	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:73493658G>A	uc021vjh.1	-	1	1148	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M		NM_001080410	NP_001073879	Q8TF61	FBX41_HUMAN	Homo sapiens F-box protein 41 (FBXO41), mRNA.	353						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GGCGCTGGGCGTGCTGCCACA	0.692													A	73493658	G	A	73493658	3	1	174	1	0	0	0	0	1	0	0	0	5799	1145	40	1	1613	1	FBXO41	2	73493658	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		73493658	169705715	9	12099											
SCN7A	6332	broad.mit.edu	37	chr2	167328840	167328840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcactcaaacacagttaCgctgaaatcgagccagttcc	13	9	6	13	2	2	1	2	1	0	0	4	2	3	1	2	0	4	3	2	0	4	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr2:167328840C>T	uc002udu.2	-	4	689	c.559G>A	c.(559-561)Gta>Ata	p.V187I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	187					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.V187I(3)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AACACAGTTACGCTGAAATCG	0.338													T	167328840	C	T	167328840	3	4	174	1	0	0	0	0	1	0	0	0	14016	536	19	1	4573	1	SCN7A	2	167328840	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	93835182	167328840	75870533	10	12100											
DCLK3	85443	broad.mit.edu	37	chr3	36779849	36779850	+	Frame_Shift_Ins	INS	-	-	C																															cttgctactgggttctggctINScccatttccccctcccccac																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:36779849_36779850insC	uc003cgi.2	-	1	792_793	c.301_302insG	c.(301-303)gagfs	p.E101fs		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	101						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.E101*(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GGGTTCTGGCTCCCATTTCCCC	0.589													C	36779850	-	C	36779849	7	5	174	1	0	1	1	0	0	0	0	0	4327	1551	54	0	1660	0	DCLK3	3	36779849	Frame_Shift_Ins	INS	-	TCGA-26-5132-01A-01D-1486-08		36779849	161242581	11	12101											
SLCO2A1	6578	broad.mit.edu	37	chr3	133653573	133653573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcagatgaggcctgccGccttctgcacgttgtactcc	5	10	13	13	2	2	2	1	1	1	1	3	2	3	2	4	3	3	3	4	3	1	3	rs142805553	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:133653573G>A	uc003eqa.4	-	13	2190	c.1916C>T	c.(1915-1917)gCg>gTg	p.A639V		NM_005630	NP_005621	Q92959	SO2A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2A1 (SLCO2A1), mRNA.	639					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	p.A639A(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GAGGCCTGCCGCCTTCTGCAC	0.567													A	133653573	G	A	133653573	3	1	174	1	0	0	0	0	1	0	0	0	14820	1087	38	1	19	1	SLCO2A1	3	133653573	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08	96873724	133653573	64368857	12	12102											
DNAJC19	131118	broad.mit.edu	37	chr3	180705861	180705861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgaggctccatatgctTcatggcttgcaaaacgtaac	11	12	8	10	1	1	1	1	1	0	0	2	1	2	1	1	2	5	5	1	2	5	6			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr3:180705861T>C	uc003fkt.3	-	2	251	c.79A>G	c.(79-81)Aag>Gag	p.K27E	DNAJC19_uc021xhv.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhw.1_Missense_Mutation_p.K2E|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	27					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TCCATATGCTTCATGGCTTGC	0.388													C	180705861	T	C	180705861	3	2	174	1	0	0	0	0	1	0	0	0	4677	1792	62	3	287	3	DNAJC19	3	180705861	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	47052288	180705861	17316569	13	12103											
LGI2	55203	broad.mit.edu	37	chr4	25014080	25014080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagttgaacgtatccaCtgaaaccgactggtagggta	11	10	12	8	2	0	2	0	2	0	0	1	4	1	3	2	3	2	4	2	3	5	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:25014080C>T	uc003grf.2	-	6	796	c.697G>A	c.(697-699)Gtg>Atg	p.V233M		NM_018176	NP_060646	Q8N0V4	LGI2_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 2 (LGI2), mRNA.	233						extracellular region		p.V233V(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AACGTATCCACTGAAACCGAC	0.453													T	25014080	C	T	25014080	3	4	174	1	0	0	0	0	1	0	0	0	8812	565	20	2	948	2	LGI2	4	25014080	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		25014080	166140196	14	12104											
DCHS2	54798	broad.mit.edu	37	chr4	155219629	155219629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccactgttcccacttcaGcatcttctctcacagaggac	10	10	6	15	0	4	1	2	0	2	1	6	3	5	2	2	1	2	2	2	1	1	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr4:155219629G>T	uc003inw.2	-	17	4472	c.4472C>A	c.(4471-4473)gCt>gAt	p.A1491D		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1491	Cadherin 13.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TCCCACTTCAGCATCTTCTCT	0.463													T	155219629	G	T	155219629	3	4	174	1	0	0	0	0	1	0	0	0	4322	971	34	4	4310	4	DCHS2	4	155219629	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08	130205549	155219629	35934647	15	12105											
SLC6A19	340024	broad.mit.edu	37	chr5	1214110	1214110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacctggctggacgcgggcGcacaggtcttcttctccttc	5	10	11	15	3	3	0	0	0	3	0	5	1	3	1	2	4	0	2	2	4	0	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:1214110G>A	uc003jbw.4	+	5	873	c.817G>A	c.(817-819)Gca>Aca	p.A273T		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	273					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGACGCGGGCGCACAGGTCTT	0.647													A	1214110	G	A	1214110	3	1	174	1	0	0	0	0	1	0	0	0	14776	1087	38	1	839	1	SLC6A19	5	1214110	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		1214110	179701150	16	12106											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576573	33576573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtactttccactggagcGtcatttccaggtactctgat	7	15	8	11	1	3	1	1	1	2	0	5	2	5	2	2	2	3	2	2	2	2	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr5:33576573G>A	uc003jia.1	-	18	3721	c.3558C>T	c.(3556-3558)gaC>gaT	p.D1186D	ADAMTS12_uc010iuq.1_Silent_p.D1101D	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	1186	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCACTGGAGCGTCATTTCCAG	0.498										HNSCC(64;0.19)			A	33576573	G	A	33576573	2	1	174	1	0	0	0	0	0	0	0	1	257	1136	40	1		1	ADAMTS12	5	33576573	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	32362463	33576573	147338687	17	12107											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247188	26247188	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaggccttttccggcCttgccccgaacagacatgat	8	10	8	15	2	0	2	0	1	0	1	2	3	2	2	6	2	2	0	6	2	2	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:26247188C>T	uc003nhf.3	-	0	18	c.18G>A	c.(16-18)aaG>aaA	p.K6K		NM_003547	NP_003538	Q99525	H4G_HUMAN	Homo sapiens histone cluster 1, H4g (HIST1H4G), mRNA.	6					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTTTCCGGCCTTGCCCCGAA	0.483													T	26247188	C	T	26247188	2	4	174	1	0	0	0	0	0	0	0	1	7226	680	24	2		2	HIST1H4G	6	26247188	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08		26247188	144867879	18	12108											
ZFP57	346171	broad.mit.edu	37	chr6	29641134	29641134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccggtaacccagatggaCgcggcggtgacgacttagtc	8	6	16	11	5	0	2	0	1	0	1	1	4	0	3	2	5	1	1	2	5	2	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:29641134C>T	uc011dlw.2	-	3	905	c.754G>A	c.(754-756)Gtc>Atc	p.V252I		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	168					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CCCAGATGGACGCGGCGGTGA	0.557													T	29641134	C	T	29641134	3	4	174	1	0	0	0	0	1	0	0	0	17752	536	19	1	860	1	ZFP57	6	29641134	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	3393946	29641134	141473933	19	12109											
TJAP1	93643	broad.mit.edu	37	chr6	43470020	43470020	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtattatcccttttcaGgctgcagaacagctacacgg	9	12	8	12	1	1	1	1	0	0	1	2	1	2	1	2	2	4	4	2	2	4	6			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:43470020G>T	uc003ovd.2	+	7	667	c.291_splice	c.e7-1	p.R97_splice	TJAP1_uc003ovf.2_Splice_Site_p.R97_splice|TJAP1_uc003ove.2_Splice_Site_p.R97_splice|TJAP1_uc003ovc.2_Splice_Site_p.R97_splice|TJAP1_uc010jyp.2_Splice_Site_p.R56_splice|TJAP1_uc011dvh.1_Splice_Site_p.R97_splice|TJAP1_uc003ovg.2_Splice_Site|TJAP1_uc010jyq.2_Splice_Site_p.R97_splice|TJAP1_uc011dvi.1_Splice_Site_p.R97_splice|TJAP1_uc011dvj.2_Splice_Site|TJAP1_uc003ovi.2_5'UTR	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	97						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCCTTTTCAGGCTGCAGAAC	0.547													T	43470020	G	T	43470020	5	4	174	1	0	0	0	0	0	0	1	0	16028	1014	35	4	304	4	TJAP1	6	43470020	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08	13828886	43470020	127645047	20	12110											
HDAC2	3066	broad.mit.edu	37	chr6	114264560	114264563	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															cttatcttcttcaattctagCtttctttgctcctttcttat																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:114264560_114264563delCTTT	uc003pwd.2	-	11	1617_1620	c.1330_1333delAAAG	c.(1330-1335)aaagctfs	p.K444fs	HDAC2_uc003pwc.2_Frame_Shift_Del_p.K414fs|HDAC2_uc003pwe.2_Frame_Shift_Del_p.K414fs	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	444					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	tcaattctagctttctttgctcct	0.353													-	114264563	CTTT	-	114264560	7	5	174	1	0	1	0	1	0	0	0	0	7062	797	28	0	145	0	HDAC2	6	114264560	Frame_Shift_Del	DEL	CTTT	TCGA-26-5132-01A-01D-1486-08	70794540	114264560	56850507	21	12111											
HEY2	23493	broad.mit.edu	37	chr6	126080793	126080793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccttcgcgggggcattcCccatgcttcccccaaacgca	6	9	9	17	3	0	0	0	0	0	0	4	0	3	0	5	2	2	3	5	2	1	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr6:126080793C>T	uc003qad.3	+	4	1050	c.859C>T	c.(859-861)Ccc>Tcc	p.P287S	HEY2_uc011ebr.2_Missense_Mutation_p.P241S	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	287	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		GGGGGCATTCCCCATGCTTCC	0.667													T	126080793	C	T	126080793	3	4	174	1	0	0	0	0	1	0	0	0	7134	623	22	2	877	2	HEY2	6	126080793	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	11816233	126080793	45034274	22	12112											
HOXA6	3203	broad.mit.edu	37	chr7	27185435	27185435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcgatgcggcggcgccGtgtcaggtagcggttgaagt	6	9	17	9	6	2	1	1	1	1	0	3	3	2	1	1	4	2	2	1	4	2	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:27185435G>A	uc003syo.2	-	1	569	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	HOXA-AS3_uc003syr.2_Intron|HOXA5_uc003syn.2_5'Flank|HOXA-AS3_uc003syp.2_5'Flank	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	182						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CGGCGGCGCCGTGTCAGGTAG	0.602													A	27185435	G	A	27185435	3	1	174	1	0	0	0	0	1	0	0	0	7351	1144	40	1	161	1	HOXA6	7	27185435	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		27185435	131953228	23	12113											
CCDC132	55610	broad.mit.edu	37	chr7	92985271	92985271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggattttcaacagttttTaatgaaacttgaaaaactaa	17	15	5	4	0	1	2	1	2	0	0	1	3	1	3	0	1	3	1	0	1	6	8			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:92985271T>C	uc003umo.3	+	26	2782	c.2654T>C	c.(2653-2655)tTa>tCa	p.L885S	CCDC132_uc003ump.3_Missense_Mutation_p.L855S|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.L605S	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	885										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CAACAGTTTTTAATGAAACTT	0.303													C	92985271	T	C	92985271	3	2	174	1	0	0	0	0	1	0	0	0	2793	1764	61	3	2802	3	CCDC132	7	92985271	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	65799836	92985271	66153392	24	12114											
PEG10	23089	broad.mit.edu	37	chr7	94293142	94293142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgatggcaacccagacAtgctggctcctttcatggcc	8	10	10	13	1	1	1	1	0	0	1	3	2	2	1	3	3	2	4	3	3	1	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:94293142A>G	uc003uno.3	+	1	753	c.274A>G	c.(274-276)Atg>Gtg	p.M92V	PEG10_uc011kie.2_Missense_Mutation_p.M168V|PEG10_uc022ahn.1_Missense_Mutation_p.M92V	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	92	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CAACCCAGACATGCTGGCTCC	0.562													G	94293142	A	G	94293142	3	3	174	1	0	0	0	0	1	0	0	0	11795	217	8	3	508	3	PEG10	7	94293142	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1307871	94293142	64845521	25	12115											
OR2AE1	81392	broad.mit.edu	37	chr7	99474406	99474406	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttcttgccagataggtagTtggtagccatcttcaggatg	9	14	11	7	0	3	1	1	0	2	1	3	2	3	2	2	3	2	3	2	3	3	7			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:99474406T>C	uc003usc.1	-	0	251	c.251A>G	c.(250-252)aAc>aGc	p.N84S		NM_001005276	NP_001005276	Q8NHA4	O2AE1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AE, member 1 (OR2AE1), mRNA.	84					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGATAGGTAGTTGGTAGCCAT	0.468													C	99474406	T	C	99474406	3	2	174	1	0	0	0	0	1	0	0	0	11059	1725	60	3	724	3	OR2AE1	7	99474406	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	5181264	99474406	59664257	26	12116											
KRBA1	84626	broad.mit.edu	37	chr7	149431067	149431067	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcagcctgctgggaggAgtgcagagggccctccagga	8	4	17	12	1	0	1	0	0	0	1	1	5	1	4	4	4	4	3	4	4	0	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr7:149431067A>T	uc003wfz.3	+	17	3420	c.3021A>T	c.(3019-3021)ggA>ggT	p.G1007G	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.G615G	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	1008										breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGCTGGGAGGAGTGCAGAGGG	0.647													T	149431067	A	T	149431067	2	4	174	1	0	0	0	0	0	0	0	1	8497	291	11	5		5	KRBA1	7	149431067	Silent	SNP	A	TCGA-26-5132-01A-01D-1486-08	49956661	149431067	9707596	27	12117											
ANK1	286	broad.mit.edu	37	chr8	41519452	41519452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatctgtcgaaccaccttgCgaatgatctaggaaaggaag	13	9	10	9	2	2	1	0	1	2	0	3	5	2	3	2	2	2	0	2	2	6	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr8:41519452C>T	uc003xok.3	-	40	5570	c.5486G>A	c.(5485-5487)cGc>cAc	p.R1829H	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.R983H|ANK1_uc003xoi.3_Missense_Mutation_p.R1829H|ANK1_uc003xoj.3_Missense_Mutation_p.R1829H|ANK1_uc003xol.3_Missense_Mutation_p.R1667H|ANK1_uc003xom.3_Missense_Mutation_p.R1870H|ANK1_uc003xof.3_Intron|ANK1_uc011lcl.2_Missense_Mutation_p.R104H|ANK1_uc003xod.3_Missense_Mutation_p.R104H|ANK1_uc003xoc.3_Missense_Mutation_p.R104H|MIR486_uc022auh.1_5'Flank	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1829	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AACCACCTTGCGAATGATCTA	0.602													T	41519452	C	T	41519452	3	4	174	1	0	0	0	0	1	0	0	0	620	768	27	1	270	1	ANK1	8	41519452	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		41519452	104844570	28	12118											
SLC28A3	64078	broad.mit.edu	37	chr9	86917142	86917142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagaaccaatggctgtttAgaagccttctgccaggagac	11	8	11	11	0	1	3	0	0	1	3	1	4	1	3	4	2	3	2	4	2	4	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:86917142A>G	uc010mpz.3	-	4	643	c.497T>C	c.(496-498)cTa>cCa	p.L166P	SLC28A3_uc011lsy.2_Missense_Mutation_p.L97P|SLC28A3_uc004anu.2_Missense_Mutation_p.L166P|SLC28A3_uc010mqb.3_Missense_Mutation_p.L97P	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	166					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ATGGCTGTTTAGAAGCCTTCT	0.433													G	86917142	A	G	86917142	3	3	174	1	0	0	0	0	1	0	0	0	14627	420	15	3	1634	3	SLC28A3	9	86917142	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		86917142	54296289	29	12119											
NAA35	60560	broad.mit.edu	37	chr9	88627995	88627995	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattcagatccatggacataAcagggctcgacagagagata	15	8	10	8	1	1	3	1	0	0	3	3	6	2	4	1	2	1	1	1	2	3	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:88627995A>T	uc004aoi.4	+	15	1462	c.1325A>T	c.(1324-1326)aAc>aTc	p.N442I	NAA35_uc004aoj.4_Missense_Mutation_p.N442I	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	442					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						CATGGACATAACAGGGCTCGA	0.378													T	88627995	A	T	88627995	3	4	174	1	0	0	0	0	1	0	0	0	10199	43	2	5	1383	5	NAA35	9	88627995	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	1710853	88627995	52585436	30	12120											
SUSD3	203328	broad.mit.edu	37	chr9	95841846	95841846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcaacaaacccgtgagCgggcccagccaggcgcacga	11	3	11	16	4	1	1	1	1	0	0	1	2	1	1	3	2	4	1	3	2	2	1	rs146086851	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:95841846C>T	uc004atb.3	+	3	555	c.519C>T	c.(517-519)agC>agT	p.S173S	SUSD3_uc004atc.3_Silent_p.S160S	NM_145006	NP_659443	Q96L08	SUSD3_HUMAN	Homo sapiens sushi domain containing 3 (SUSD3), mRNA.	173						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AACCCGTGAGCGGGCCCAGCC	0.642													T	95841846	C	T	95841846	2	4	174	1	0	0	0	0	0	0	0	1	15505	767	27	1		1	SUSD3	9	95841846	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08	7213851	95841846	45371585	31	12121											
DDX31	64794	broad.mit.edu	37	chr9	135470499	135470500	+	Splice_Site	DEL	CC	CC	-																															gtcttcttatgaaggtcaggCctgaagaacagtaacagcag																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr9:135470499_135470500delCC	uc004cbq.1	-	20	2462	c.2310_splice	c.e20-1	p.R770_splice	DDX31_uc010mzu.1_Splice_Site_p.R697_splice	NM_022779	NP_073616	Q9H8H2	DDX31_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 31 (DDX31), transcript variant 1, mRNA.	770						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		GAAGGTCAGGCCTGAAGAACAG	0.46													-	135470500	CC	-	135470499	8	5	174	1	0	1	0	1	0	0	1	0	4390	753	26	0	249	0	DDX31	9	135470499	Splice_Site	DEL	CC	TCGA-26-5132-01A-01D-1486-08	39628653	135470499	5742932	32	12122											
HSPA14	51182	broad.mit.edu	37	chr10	14891809	14891809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcaaaaaaatgctcttGggtaagtatatggggtttat	16	12	10	3	0	1	0	0	0	1	0	1	0	1	0	0	3	2	5	0	3	9	6			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:14891809G>A	uc001inf.3	+	6	608	c.467_splice	c.e6+1	p.G156_splice	HSPA14_uc010qbw.2_Missense_Mutation_p.G156R	NM_016299	NP_057383	Q0VDF9	HSP7E_HUMAN	Homo sapiens heat shock 70kDa protein 14 (HSPA14), transcript variant 1, mRNA.	156					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						AAATGCTCTTGGGTAAGTATA	0.338													A	14891809	G	A	14891809	3	1	174	1	0	0	0	0	1	0	0	0	7464	1362	47	2	488	2	HSPA14	10	14891809	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		14891809	120642938	33	12123											
PTEN	5728	broad.mit.edu	37	chr10	89720650	89720650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttttttttttttaGgacaaaatgtttcacttttg	7	26	4	4	0	2	0	1	0	1	0	2	1	2	1	0	1	0	1	0	1	3	12			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr10:89720650G>A	uc001kfb.3	+	8	1834	c.802_splice	c.e8-1	p.D268_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	268	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720650	G	A	89720650	5	1	174	1	0	0	0	0	0	0	1	0	12823	1014	35	2	831	2	PTEN	10	89720650	Splice_Site	SNP	G	TCGA-26-5132-01A-01D-1486-08	74828841	89720650	45814097	34	12124											
MUC2	4583	broad.mit.edu	37	chr11	1084747	1084747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcacctgcaagagaggaCgctgggtgtgcacccaggct	9	6	14	12	1	1	1	1	0	0	1	1	3	1	2	2	3	3	5	2	3	1	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:1084747C>T	uc001lsx.1	+	19	2569	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	848						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGAGAGGACGCTGGGTGTG	0.602													T	1084747	C	T	1084747	3	4	174	1	0	0	0	0	1	0	0	0	10051	536	19	1	2620	1	MUC2	11	1084747	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		1084747	133921769	35	12125											
NELL1	4745	broad.mit.edu	37	chr11	21596532	21596532	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacagaatggaagagtctgTtgttctgtggattttgagtg	9	15	14	3	0	2	3	0	1	2	2	2	5	2	5	0	2	1	3	0	2	3	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:21596532T>C	uc009yid.3	+	20	2634	c.2481T>C	c.(2479-2481)tgT>tgC	p.C827C	NELL1_uc010rdp.2_Silent_p.C512C|NELL1_uc001mqe.3_Silent_p.C799C|NELL1_uc001mqf.3_Silent_p.C752C|NELL1_uc010rdo.2_Silent_p.C742C|NELL1_uc001mqh.3_Silent_p.C344C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	799					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GAAGAGTCTGTTGTTCTGTGG	0.353													C	21596532	T	C	21596532	2	2	174	1	0	0	0	0	0	0	0	1	10409	1731	60	3		3	NELL1	11	21596532	Silent	SNP	T	TCGA-26-5132-01A-01D-1486-08	20511785	21596532	113409984	36	12126											
OR5D18	219438	broad.mit.edu	37	chr11	55587476	55587476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggcctatgaccgctTcgtggccatttgcaaccctc	6	12	10	13	2	0	2	0	2	0	0	2	2	0	2	4	2	2	2	4	2	2	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:55587476T>C	uc010rin.2	+	0	371	c.371T>C	c.(370-372)tTc>tCc	p.F124S		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TATGACCGCTTCGTGGCCATT	0.458													C	55587476	T	C	55587476	3	2	174	1	0	0	0	0	1	0	0	0	11233	1783	62	3	373	3	OR5D18	11	55587476	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	33990944	55587476	79419040	37	12127											
PANX3	116337	broad.mit.edu	37	chr11	124489386	124489386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaattcagctgctccatcaAgacagggctgctaagtgatg	12	9	11	9	0	2	3	2	1	0	2	3	3	3	3	1	1	3	4	1	1	3	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr11:124489386A>G	uc001qah.3	+	3	734	c.734A>G	c.(733-735)aAg>aGg	p.K245R		NM_052959	NP_443191	Q96QZ0	PANX3_HUMAN	Homo sapiens pannexin 3 (PANX3), mRNA.	245					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		TGCTCCATCAAGACAGGGCTG	0.488													G	124489386	A	G	124489386	3	3	174	1	0	0	0	0	1	0	0	0	11498	72	3	3	748	3	PANX3	11	124489386	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	68901910	124489386	10517130	38	12128											
ABCC9	10060	broad.mit.edu	37	chr12	21995285	21995285	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatttctggataaaataaaAggcaacaccaaggggcagga	17	7	11	6	0	1	0	0	0	1	0	1	2	1	2	1	5	1	3	1	5	7	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:21995285A>T	uc001rfh.3	-	26	3456	c.3436T>A	c.(3436-3438)Ttt>Att	p.F1146I	ABCC9_uc001rfi.1_Missense_Mutation_p.F1146I	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1146	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATAAAATAAAAGGCAACACCA	0.438													T	21995285	A	T	21995285	3	4	174	1	0	0	0	0	1	0	0	0	59	72	3	5	1403	5	ABCC9	12	21995285	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		21995285	111856610	39	12129											
ITPR2	3709	broad.mit.edu	37	chr12	26808744	26808744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgtcagggcaaatttcCtcttcatatcatttctggaa	10	15	6	10	0	5	0	3	0	2	0	6	1	6	1	2	2	0	1	2	2	3	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:26808744C>T	uc001rhg.3	-	19	2903	c.2486G>A	c.(2485-2487)aGg>aAg	p.R829K		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	829					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGCAAATTTCCTCTTCATATC	0.313													T	26808744	C	T	26808744	3	4	174	1	0	0	0	0	1	0	0	0	7979	681	24	2	5771	2	ITPR2	12	26808744	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	4813459	26808744	107043151	40	12130											
ADAMTS20	80070	broad.mit.edu	37	chr12	43771195	43771195	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttccaactttccaagtGgccaaatgcaaacagctgtt	12	12	6	11	0	0	0	0	0	0	0	2	0	2	0	3	1	4	3	3	1	4	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:43771195G>C	uc010skx.2	-	31	4968	c.4968C>G	c.(4966-4968)gcC>gcG	p.A1656A		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1656	TSP type-1 15.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTTCCAAGTGGCCAAATGCA	0.403													C	43771195	G	C	43771195	2	2	174	1	0	0	0	0	0	0	0	1	266	1335	47	4		4	ADAMTS20	12	43771195	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	16962451	43771195	90080700	41	12131											
SUDS3	64426	broad.mit.edu	37	chr12	118841310	118841310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagatggcaaactgtactAtgacaaaagatggtatgtta	17	10	10	4	0	0	4	0	1	0	3	0	4	0	4	0	2	2	4	0	2	8	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr12:118841310A>G	uc001twz.3	+	9	930	c.791A>G	c.(790-792)tAt>tGt	p.Y264C		NM_022491	NP_071936	Q9H7L9	SDS3_HUMAN	Homo sapiens suppressor of defective silencing 3 homolog (S. cerevisiae) (SUDS3), mRNA.	264					chromatin modification|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	Sin3 complex	histone deacetylase binding			breast(1)|lung(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAACTGTACTATGACAAAAGA	0.483													G	118841310	A	G	118841310	3	3	174	1	0	0	0	0	1	0	0	0	15463	449	16	3	829	3	SUDS3	12	118841310	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08	75070115	118841310	15010585	42	12132											
RB1	5925	broad.mit.edu	37	chr13	48953730	48953730	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgtttgtttgtagCgatacaaacttggagttcgc	7	19	9	6	2	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	9	rs3092891		TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr13:48953730C>T	uc001vcb.3	+	14	1499	c.1333_splice	c.e14-1	p.R445_splice		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	445	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.R445*(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTGTTTGTAGCGATACAAACT	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48953730	C	T	48953730	4	4	174	1	0	0	0	0	0	1	0	0	13186	782	27	1	1387	1	RB1	13	48953730	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08		48953730	66216148	43	12133											
THBS1	7057	broad.mit.edu	37	chr15	39874516	39874516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttccgcatcgaggatGccaacctgatcccccctgtg	7	9	9	16	2	0	1	0	1	0	0	3	3	2	2	6	1	3	2	6	1	1	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:39874516G>A	uc001zkh.3	+	2	369	c.190G>A	c.(190-192)Gcc>Acc	p.A64T		NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	64	Heparin-binding.|TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CATCGAGGATGCCAACCTGAT	0.612													A	39874516	G	A	39874516	3	1	174	1	0	0	0	0	1	0	0	0	15953	1319	46	2	196	2	THBS1	15	39874516	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		39874516	62656876	44	12134											
CDAN1	146059	broad.mit.edu	37	chr15	43022940	43022940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgctgcagcagagtcCgcacatccaggaccggaggg	8	4	14	15	3	0	1	0	0	0	1	3	3	2	3	4	3	2	4	4	3	0	0			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr15:43022940C>T	uc001zql.3	-	13	2147	c.2030G>A	c.(2029-2031)cGg>cAg	p.R677Q	CDAN1_uc001zqj.3_Non-coding_Transcript|CDAN1_uc001zqk.3_Missense_Mutation_p.G3R	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	677						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CAGCAGAGTCCGCACATCCAG	0.647													T	43022940	C	T	43022940	3	4	174	1	0	0	0	0	1	0	0	0	3084	652	23	1	1713	1	CDAN1	15	43022940	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	3148424	43022940	59508452	45	12135											
ZCCHC14	23174	broad.mit.edu	37	chr16	87448889	87448889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttcacactcacttttccaGctccagctgggtcttgagct	7	13	7	14	0	3	1	2	1	1	0	5	1	5	1	2	1	3	3	2	1	0	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr16:87448889G>T	uc002fjz.1	-	8	1084	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZCCHC14_uc002fka.1_Non-coding_Transcript|ZCCHC14_uc002fkb.3_Missense_Mutation_p.L129M	NM_015144	NP_055959	Q8WYQ9	ZCH14_HUMAN	Homo sapiens zinc finger, CCHC domain containing 14 (ZCCHC14), mRNA.	353					cell communication		nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	36				BRCA - Breast invasive adenocarcinoma(80;0.0285)		CACTTTTCCAGCTCCAGCTGG	0.423													T	87448889	G	T	87448889	3	4	174	1	0	0	0	0	1	0	0	0	17684	962	34	4	1812	4	ZCCHC14	16	87448889	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		87448889	2905864	46	12136											
PRPF8	10594	broad.mit.edu	37	chr17	1577829	1577829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggaaactgagaaagtcaTttggcatctgagggggccca	11	8	13	9	0	2	2	1	2	1	1	2	4	2	3	2	4	1	1	2	4	2	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:1577829T>C	uc002fte.3	-	20	3320	c.3206A>G	c.(3205-3207)aAt>aGt	p.N1069S		NM_006445	NP_006436	Q6P2Q9	PRP8_HUMAN	Homo sapiens PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae) (PRPF8), mRNA.	1069						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.N1069D(2)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAGAAAGTCATTTGGCATCTG	0.507													C	1577829	T	C	1577829	3	2	174	1	0	0	0	0	1	0	0	0	12661	1493	52	3	3893	3	PRPF8	17	1577829	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08		1577829	79617381	47	12137											
ALDH3A1	218	broad.mit.edu	37	chr17	19644516	19644516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgaatttcccccaggCgatgcgtctgtgagaatccc	8	11	10	12	2	2	2	1	2	1	1	4	4	4	2	3	1	1	1	3	1	2	2	rs140108064	byFrequency	TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:19644516C>T	uc002gwk.3	-	3	1311	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	ALDH3A1_uc010cqu.3_Missense_Mutation_p.A233T|ALDH3A1_uc010vzd.2_Missense_Mutation_p.A233T|ALDH3A1_uc002gwj.3_Missense_Mutation_p.A233T|ALDH3A1_uc010cqv.3_Missense_Mutation_p.A233T|ALDH3A1_uc002gwl.1_Missense_Mutation_p.A160T			P30838	AL3A1_HUMAN	Homo sapiens aldehyde dehydrogenase 3 family, member A1 (ALDH3A1), transcript variant 2, mRNA.	233					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	TTCCCCCAGGCGATGCGTCTG	0.537													T	19644516	C	T	19644516	3	4	174	1	0	0	0	0	1	0	0	0	497	768	27	1	688	1	ALDH3A1	17	19644516	Missense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	18066687	19644516	61550694	48	12138											
SEZ6	124925	broad.mit.edu	37	chr17	27287691	27287691	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgcgaatgatgagccTgaaccaggagagtggcagct	11	7	13	10	1	0	4	0	3	0	1	0	6	0	4	3	2	4	2	3	2	2	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:27287691T>A	uc002hdp.2	-	7	1604	c.1410_splice	c.e7-1	p.R470_splice	SEZ6_uc002hdm.2_Splice_Site|SEZ6_uc010cry.1_Splice_Site_p.R470_splice|SEZ6_uc002hdq.1_Splice_Site_p.R345_splice	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	470	CUB 1.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ATGATGAGCCTGAACCAGGAG	0.592													A	27287691	T	A	27287691	5	1	174	1	0	0	0	0	0	0	1	0	14235	1594	55	5	1633	5	SEZ6	17	27287691	Splice_Site	SNP	T	TCGA-26-5132-01A-01D-1486-08	7643175	27287691	53907519	49	12139											
KRT9	3857	broad.mit.edu	37	chr17	39724628	39724628	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttccaagctcttctccaGagctgctttctaagggttag	7	14	9	11	0	4	1	0	0	4	1	6	1	5	1	2	1	3	4	2	1	3	5			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr17:39724628G>A	uc002hxe.4	-	5	1246	c.1180C>T	c.(1180-1182)Ctg>Ttg	p.L394L	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	394	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.A393V(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTCTTCTCCAGAGCTGCTTTC	0.532													A	39724628	G	A	39724628	2	1	174	1	0	0	0	0	0	0	0	1	8559	933	33	2		2	KRT9	17	39724628	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08	12436937	39724628	41470582	50	12140											
C19orf40	91442	broad.mit.edu	37	chr19	33464993	33464993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttaaaggaattgtagtcGttgaaaaaacccggatgagt	15	11	10	5	2	1	2	0	2	1	0	2	4	1	4	1	2	1	2	1	2	7	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:33464993G>A	uc002nud.4	+	3	389	c.271G>A	c.(271-273)Gtt>Att	p.V91I	CEP89_uc002nty.3_5'Flank|CEP89_uc010edg.3_5'Flank|CEP89_uc002nua.3_5'Flank|CEP89_uc002nuc.1_5'Flank	NM_152266	NP_689479	Q9BTP7	FAP24_HUMAN	Homo sapiens chromosome 19 open reading frame 40 (C19orf40), mRNA.	91					DNA repair	Fanconi anaemia nuclear complex	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7	Esophageal squamous(110;0.137)					AATTGTAGTCGTTGAAAAAAC	0.418								Direct reversal of damage					A	33464993	G	A	33464993	3	1	174	1	0	0	0	0	1	0	0	0	1942	1145	40	1	281	1	C19orf40	19	33464993	Missense_Mutation	SNP	G	TCGA-26-5132-01A-01D-1486-08		33464993	25663990	51	12141											
DMRTC2	63946	broad.mit.edu	37	chr19	42352997	42352997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccaccaccagtggtgtgCcgcctgctgtaccaagaacc	9	7	10	15	1	0	1	0	0	0	1	0	1	0	1	7	1	5	2	7	1	3	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr19:42352997C>T	uc010xwe.2	+	4	665	c.582C>T	c.(580-582)tgC>tgT	p.C194C	DMRTC2_uc002orr.1_Silent_p.C71C|DMRTC2_uc002ors.3_Silent_p.C194C	NM_001040283	NP_001035373	Q8IXT2	DMRTD_HUMAN	Homo sapiens DMRT-like family C2 (DMRTC2), mRNA.	194	Pro-rich.				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						CAGTGGTGTGCCGCCTGCTGT	0.567													T	42352997	C	T	42352997	2	4	174	1	0	0	0	0	0	0	0	1	4630	747	26	2		2	DMRTC2	19	42352997	Silent	SNP	C	TCGA-26-5132-01A-01D-1486-08	8888004	42352997	16775986	52	12142											
CD93	22918	broad.mit.edu	37	chr20	23065459	23065459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggggccagcacccaGcctggcaggcagccacagtg	8	5	13	15	0	0	0	0	0	0	0	0	0	0	0	5	4	3	3	5	4	0	1			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:23065459G>A	uc002wsv.3	-	0	1519	c.1371C>T	c.(1369-1371)ggC>ggT	p.G457G		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	457	EGF-like 5; calcium-binding (Potential).				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CCAGCACCCAGCCTGGCAGGC	0.632													A	23065459	G	A	23065459	2	1	174	1	0	0	0	0	0	0	0	1	3077	958	34	2		2	CD93	20	23065459	Silent	SNP	G	TCGA-26-5132-01A-01D-1486-08		23065459	39960061	53	12143											
TOP1	7150	broad.mit.edu	37	chr20	39704846	39704848	+	In_Frame_Del	DEL	AGG	AGG	-																															tgaaaagaaacacaaagagaAggagaagaccaaacacaaag																										TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chr20:39704846_39704848delAGG	uc002xjl.3	+	3	437_439	c.191_193delAGG	c.(190-195)aaggag>aag	p.E65del	TOP1_uc010gge.1_Non-coding_Transcript	NM_003286	NP_003277	P11387	TOP1_HUMAN	Homo sapiens topoisomerase (DNA) I (TOP1), mRNA.	65	Lys-rich.				DNA topological change|interspecies interaction between organisms|phosphorylation|programmed cell death|response to drug	chromosome|nucleolus|nucleoplasm	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity|protein binding			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Topotecan(DB01030)	cacaaagagaaggagaagaccaa	0.374			T	NUP98	AML*								-	39704848	AGG	-	39704846	7	5	174	1	0	1	0	1	0	0	0	0	16464	72	3	0	205	0	TOP1	20	39704846	In_Frame_Del	DEL	AGG	TCGA-26-5132-01A-01D-1486-08	16639387	39704846	23320674	54	12144											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998785	27998785	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgccgcacccagtcccAcactatcacccttaagtcat	9	10	4	18	1	3	0	2	0	1	0	4	0	4	0	4	0	1	1	4	0	2	3			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:27998785A>G	uc004dbx.1	-	0	782	c.667T>C	c.(667-669)Tgg>Cgg	p.W223R		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	223										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						ACCCAGTCCCACACTATCACC	0.498													G	27998785	A	G	27998785	3	3	174	1	0	0	0	0	1	0	0	0	4311	159	6	3	1139	3	DCAF8L1	23	27998785	Missense_Mutation	SNP	A	TCGA-26-5132-01A-01D-1486-08		27998785	127271775	55	12145											
MED12	9968	broad.mit.edu	37	chrX	70341430	70341430	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtactctggggaatttgttCagtctgcatacctgtcccgc	7	13	10	11	1	3	0	1	0	2	0	4	1	4	1	2	2	3	3	2	2	3	4			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:70341430C>T	uc004dyy.3	+	6	1064	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	MED12_uc011mpq.1_Nonsense_Mutation_p.Q289*|MED12_uc004dyz.3_Nonsense_Mutation_p.Q289*|MED12_uc004dza.3_Nonsense_Mutation_p.Q136*	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	289					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATTTGTTCAGTCTGCATA	0.502			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						T	70341430	C	T	70341430	4	4	174	1	0	0	0	0	0	1	0	0	9503	827	29	2	891	2	MED12	23	70341430	Nonsense_Mutation	SNP	C	TCGA-26-5132-01A-01D-1486-08	42342645	70341430	84929130	56	12146											
MAGEA6	4105	broad.mit.edu	37	chrX	151870122	151870122	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctgcatgctatgagtTcctgtggggtccaagggccc	6	11	13	11	0	0	2	0	2	0	0	3	2	3	2	4	3	2	3	4	3	2	2			TCGA-26-5132-01A-01D-1486-08	TCGA-26-5132-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d1132127-1250-43af-9c16-425798a3d1a7	d3b73b4c-8cad-4fa2-b329-27b3f62f0748	g.chrX:151870122T>A	uc022chf.1	+	0	812	c.812T>A	c.(811-813)tTc>tAc	p.F271Y	MAGEA6_uc004ffq.1_Missense_Mutation_p.F271Y|MAGEA6_uc004ffr.1_Missense_Mutation_p.F271Y	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	271	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTATGAGTTCCTGTGGGGT	0.532													A	151870122	T	A	151870122	3	1	174	1	0	0	0	0	1	0	0	0	9243	1783	62	5	814	5	MAGEA6	23	151870122	Missense_Mutation	SNP	T	TCGA-26-5132-01A-01D-1486-08	81528692	151870122	3400438	57	12147											
MUTYH	4595	broad.mit.edu	37	chr1	45797465	45797465	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttgaccactcccagggTctggtcccagggctccgagg	7	7	14	13	1	1	1	0	1	1	0	4	3	4	1	4	4	0	2	4	4	1	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:45797465T>A	uc001cnm.3	-	11	1261	c.1045A>T	c.(1045-1047)Acc>Tcc	p.T349S	MUTYH_uc001cnf.3_Missense_Mutation_p.T324S|MUTYH_uc009vxo.3_Missense_Mutation_p.T324S|MUTYH_uc001cng.3_Missense_Mutation_p.T335S|MUTYH_uc001cnj.3_Missense_Mutation_p.T232S|MUTYH_uc001cni.3_Missense_Mutation_p.T324S|MUTYH_uc001cnh.3_Missense_Mutation_p.T325S|MUTYH_uc001cnl.3_Missense_Mutation_p.T338S|MUTYH_uc009vxp.3_Missense_Mutation_p.T352S|MUTYH_uc001cnn.3_Missense_Mutation_p.T339S|MUTYH_uc001cno.3_Missense_Mutation_p.T232S|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	349					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					ACTCCCAGGGTCTGGTCCCAG	0.652			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				A	45797465	T	A	45797465	3	1	175	1	0	0	0	0	1	0	0	0	10069	1667	58	5	615	5	MUTYH	1	45797465	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		45797465	203453156	1	12148											
CTSK	1513	broad.mit.edu	37	chr1	150771721	150771721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcatggttcagattatcGctattgcagctttcatcata	10	15	7	9	1	3	1	3	0	0	1	4	1	3	1	0	1	3	5	0	1	3	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:150771721G>A	uc001evp.2	-	6	1042	c.813C>T	c.(811-813)agC>agT	p.S271S		NM_000396	NP_000387	P43235	CATK_HUMAN	Homo sapiens cathepsin K (CTSK), mRNA.	271					proteolysis	lysosome	cysteine-type endopeptidase activity|protein binding			cervix(1)|endometrium(1)|lung(4)|skin(1)	7	all_cancers(9;2.32e-51)|all_epithelial(9;3.89e-42)|all_lung(15;4.59e-35)|Lung NSC(24;1.7e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Colorectal(459;0.171)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCAGATTATCGCTATTGCAGC	0.433													A	150771721	G	A	150771721	2	1	175	1	0	0	0	0	0	0	0	1	4070	1078	38	1		1	CTSK	1	150771721	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	104974256	150771721	98478900	2	12149											
FCRL1	115350	broad.mit.edu	37	chr1	157772382	157772382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaactgagcagatgaggAccagcctgtctccctccatc	10	8	9	14	0	1	3	0	2	1	1	4	4	2	4	4	1	4	2	4	1	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:157772382A>C	uc001frg.3	-	3	505	c.392T>G	c.(391-393)gTc>gGc	p.V131G	FCRL1_uc001frf.3_5'Flank|FCRL1_uc001frh.3_Missense_Mutation_p.V131G|FCRL1_uc001fri.3_Missense_Mutation_p.V131G|FCRL1_uc001frj.3_Intron	NM_052938	NP_443170	Q96LA6	FCRL1_HUMAN	Homo sapiens Fc receptor-like 1 (FCRL1), transcript variant 1, mRNA.	131	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCAGATGAGGACCAGCCTGTC	0.542													C	157772382	A	C	157772382	3	2	175	1	0	0	0	0	1	0	0	0	5843	275	10	5	995	5	FCRL1	1	157772382	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	7000661	157772382	91478239	3	12150											
HMCN1	83872	broad.mit.edu	37	chr1	186097315	186097315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccccacttttactgaacttCctggagacgtgtcattaaat	10	14	6	11	1	1	2	1	1	0	1	3	3	3	2	3	1	2	0	3	1	4	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:186097315C>A	uc001grq.1	+	82	13025	c.12796C>A	c.(12796-12798)Cct>Act	p.P4266T	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4266	Ig-like C2-type 42.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACTGAACTTCCTGGAGACGT	0.418													A	186097315	C	A	186097315	3	1	175	1	0	0	0	0	1	0	0	0	7275	855	30	4	13126	4	HMCN1	1	186097315	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	28324933	186097315	63153306	4	12151											
CACNA1S	779	broad.mit.edu	37	chr1	201021762	201021762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtcccatccaccaaggcGatcttcccaaacatctgcaa	11	8	7	15	1	2	0	0	0	2	0	5	1	5	0	4	2	2	1	4	2	3	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr1:201021762G>A	uc001gvv.3	-	31	4103	c.3876C>T	c.(3874-3876)atC>atT	p.I1292I		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1292					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCACCAAGGCGATCTTCCCAA	0.557													A	201021762	G	A	201021762	2	1	175	1	0	0	0	0	0	0	0	1	2573	1048	37	1		1	CACNA1S	1	201021762	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	14924447	201021762	48228859	5	12152											
TMEM18	129787	broad.mit.edu	37	chr2	669581	669581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaagcagctgctgcccctCagtcttctttccttctcctt	4	15	5	17	0	4	0	1	0	3	0	7	0	6	0	5	0	4	3	5	0	1	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:669581C>T	uc002qwl.3	-	4	516	c.422G>A	c.(421-423)tGa>tAa	p.*141*	TMEM18_uc002qwk.3_Non-coding_Transcript	NM_152834	NP_690047	Q96B42	TMM18_HUMAN	Homo sapiens transmembrane protein 18 (TMEM18), mRNA.	0					cell migration	integral to membrane|nuclear membrane				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)	10	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;5.27e-05)|all_epithelial(98;2.11e-06)|Ovarian(717;0.0253)		all cancers(51;1.95e-21)|Epithelial(75;9.47e-21)|OV - Ovarian serous cystadenocarcinoma(76;8.15e-18)|GBM - Glioblastoma multiforme(21;0.0285)		TGCTGCCCCTCAGTCttcttt	0.512													T	669581	C	T	669581	2	4	175	1	0	0	0	0	0	0	0	1	16198	837	29	2		2	TMEM18	2	669581	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		669581	242529792	6	12153											
GREB1	9687	broad.mit.edu	37	chr2	11750922	11750922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatgaagaactacacgtcGgtggagacgctggagatcac	13	6	13	9	3	1	5	1	1	0	4	2	7	1	5	0	3	2	1	0	3	3	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:11750922G>A	uc002rbk.1	+	17	3075	c.2775G>A	c.(2773-2775)tcG>tcA	p.S925S	GREB1_uc002rbo.1_Silent_p.S559S|GREB1_uc002rbp.1_5'Flank	NM_014668	NP_055483	Q4ZG55	GREB1_HUMAN	Homo sapiens growth regulation by estrogen in breast cancer 1 (GREB1), transcript variant a, mRNA.	925						integral to membrane		p.S925S(1)		breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACTACACGTCGGTGGAGACGC	0.657													A	11750922	G	A	11750922	2	1	175	1	0	0	0	0	0	0	0	1	6815	1103	39	1		1	GREB1	2	11750922	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	11081341	11750922	231448451	7	12154											
APOB	338	broad.mit.edu	37	chr2	21225763	21225763	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggaattcttgagtaacTcgtaccaagccatcaaacac	15	10	6	10	1	2	1	1	1	1	0	3	2	2	2	2	1	4	2	2	1	6	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:21225763T>C	uc002red.3	-	28	12659	c.12531A>G	c.(12529-12531)cgA>cgG	p.R4177R		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4177					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTTGAGTAACTCGTACCAAGC	0.463													C	21225763	T	C	21225763	2	2	175	1	0	0	0	0	0	0	0	1	788	1538	54	3		3	APOB	2	21225763	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	9474841	21225763	221973610	8	12155											
FMNL2	114793	broad.mit.edu	37	chr2	153399316	153399316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agctcaaaggctatctggatCcagctgtaaccaggaaggta	13	8	11	9	0	2	0	1	0	1	0	3	2	3	2	2	4	3	5	2	4	5	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:153399316C>T	uc002tye.3	+	2	632	c.265C>T	c.(265-267)Cca>Tca	p.P89S		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	89	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						CTATCTGGATCCAGCTGTAAC	0.433													T	153399316	C	T	153399316	3	4	175	1	0	0	0	0	1	0	0	0	6001	855	30	2	275	2	FMNL2	2	153399316	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	132173553	153399316	89800057	9	12156											
ACVR1C	130399	broad.mit.edu	37	chr2	158485147	158485147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagcgctgagcagagcgCccgggtcatcgccaccaggc	7	3	16	15	5	1	2	1	1	0	1	2	3	1	3	3	3	3	2	3	3	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:158485147C>T	uc002tzk.4	-	0	253	c.10G>A	c.(10-12)Gcg>Acg	p.A4T	ACVR1C_uc002tzl.4_Missense_Mutation_p.A4T|ACVR1C_uc010fof.3_Missense_Mutation_p.A4T	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	4					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GAGCAGAGCGCCCGGGTCATC	0.751													T	158485147	C	T	158485147	3	4	175	1	0	0	0	0	1	0	0	0	222	739	26	2	1507	2	ACVR1C	2	158485147	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	5085831	158485147	84714226	10	12157											
CPS1	1373	broad.mit.edu	37	chr2	211476895	211476895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaaagctttacggatgTgccacccatctatagaaggt	12	10	9	10	1	1	2	0	0	1	2	2	3	2	3	3	2	3	1	3	2	5	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:211476895T>C	uc010fur.3	+	20	2546	c.2464T>C	c.(2464-2466)Tgc>Cgc	p.C822R	CPS1_uc002vee.4_Missense_Mutation_p.C816R|CPS1_uc010fus.3_Missense_Mutation_p.C365R	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	816					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TTTACGGATGTGCCACCCATC	0.413													C	211476895	T	C	211476895	3	2	175	1	0	0	0	0	1	0	0	0	3854	1696	59	3	2546	3	CPS1	2	211476895	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	52991748	211476895	31722478	11	12158											
CYP27A1	1593	broad.mit.edu	37	chr2	219677652	219677652	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgctttcacagggaagAagctgattgatgagaagctc	11	11	12	7	0	1	4	1	3	0	2	2	6	1	5	0	1	3	4	0	1	3	3	rs72551319		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:219677652A>C	uc002viz.4	+	4	1284	c.850A>C	c.(850-852)Aag>Cag	p.K284Q		NM_000784	NP_000775	Q02318	CP27A_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily A, polypeptide 1 (CYP27A1), nuclear gene encoding mitochondrial protein, mRNA.	284					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CACAGGGAAGAAGCTGATTGA	0.517													C	219677652	A	C	219677652	3	2	175	1	0	0	0	0	1	0	0	0	4191	247	9	5	868	5	CYP27A1	2	219677652	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	8200757	219677652	23521721	12	12159											
C2orf54	79919	broad.mit.edu	37	chr2	241831024	241831024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttctcaagctgccctcaGggaatccgggcatctgctgc	6	10	10	15	1	3	0	2	0	2	0	6	1	5	1	3	2	4	3	3	2	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr2:241831024G>A	uc002wae.4	-	1	830	c.671C>T	c.(670-672)cCt>cTt	p.P224L	C2orf54_uc002wac.3_Missense_Mutation_p.P56L|C2orf54_uc002wad.3_Missense_Mutation_p.P75L	NM_001085437	NP_001078906	Q08AI8	CB054_HUMAN	Homo sapiens chromosome 2 open reading frame 54 (C2orf54), transcript variant 1, mRNA.	224										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		GCTGCCCTCAGGGAATCCGGG	0.647													A	241831024	G	A	241831024	3	1	175	1	0	0	0	0	1	0	0	0	2196	1000	35	2	688	2	C2orf54	2	241831024	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	22153372	241831024	1368349	13	12160											
CX3CR1	1524	broad.mit.edu	37	chr3	39307958	39307958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggcctcagccaaatcatCgtactcaaagttttctgtca	12	11	6	12	1	5	0	4	0	1	0	6	0	5	0	2	1	2	2	2	1	3	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:39307958C>T	uc021wwc.1	-	1	179	c.139G>A	c.(139-141)Gat>Aat	p.D47N	CX3CR1_uc021wwa.1_Missense_Mutation_p.D15N|CX3CR1_uc021wwb.1_Missense_Mutation_p.D15N|CX3CR1_uc003cjl.3_Missense_Mutation_p.D15N|CX3CR1_uc021wwd.1_Missense_Mutation_p.D15N	NM_001171174	NP_001164645	P49238	CX3C1_HUMAN	Homo sapiens chemokine (C-X3-C motif) receptor 1 (CX3CR1), transcript variant 1, mRNA.	15					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity	p.D15N(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCCAAATCATCGTACTCAAAG	0.448													T	39307958	C	T	39307958	3	4	175	1	0	0	0	0	1	0	0	0	4108	884	31	1	1028	1	CX3CR1	3	39307958	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		39307958	158714472	14	12161											
BAP1	8314	broad.mit.edu	37	chr3	52442518	52442518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagaacatgttattcacaAtatcatcatcaatcacggac	17	10	4	10	1	5	1	5	0	0	1	5	2	5	2	0	1	1	1	0	1	6	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:52442518A>G	uc003ddx.3	-	3	342	c.227T>C	c.(226-228)aTt>aCt	p.I76T	PHF7_uc003ddy.3_5'Flank|PHF7_uc003ddz.3_5'Flank	NM_004656	NP_004647	Q92560	BAP1_HUMAN	Homo sapiens BRCA1 associated protein-1 (ubiquitin carboxy-terminal hydrolase) (BAP1), mRNA.	76					monoubiquitinated histone H2A deubiquitination|negative regulation of cell proliferation|protein K48-linked deubiquitination|regulation of cell cycle|regulation of cell growth|ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|PR-DUB complex	chromatin binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.I76fs*45(2)|p.I72fs*7(1)|p.D75G(1)		NS(1)|breast(4)|endometrium(3)|eye(42)|kidney(60)|large_intestine(3)|lung(9)|ovary(4)|pleura(39)|prostate(4)|skin(9)|urinary_tract(2)	180				BRCA - Breast invasive adenocarcinoma(193;1.72e-05)|Kidney(197;0.0018)|KIRC - Kidney renal clear cell carcinoma(197;0.00203)|OV - Ovarian serous cystadenocarcinoma(275;0.0277)		GTTATTCACAATATCATCATC	0.478			"N, Mis, F, S, O"		"uveal melanoma, breast, NSCLC, RCC"	"mesothelioma, uveal melanoma"							G	52442518	A	G	52442518	3	3	175	1	0	0	0	0	1	0	0	0	1316	101	4	3	2018	3	BAP1	3	52442518	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	13134560	52442518	145579912	15	12162											
PRKCD	5580	broad.mit.edu	37	chr3	53220653	53220653	+	Frame_Shift_Del	DEL	G	G	-																															ttgtgatggagttcctcaacGggggggacctgatgtaccac																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:53220653delG	uc003dgl.3	+	13	1647	c.1294delG	c.(1294-1296)gggfs	p.G432fs	PRKCD_uc003dgm.3_Frame_Shift_Del_p.G432fs	NM_006254	NP_997704	Q05655	KPCD_HUMAN	Homo sapiens protein kinase C, delta (PRKCD), transcript variant 1, mRNA.	432	Protein kinase.				activation of phospholipase C activity|cellular component disassembly involved in apoptosis|cellular senescence|interferon-gamma-mediated signaling pathway|intracellular signal transduction|mRNA metabolic process|negative regulation of insulin receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of protein binding|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of ceramide biosynthetic process|positive regulation of glucosylceramide catabolic process|positive regulation of protein dephosphorylation|positive regulation of sphingomyelin catabolic process|protein stabilization|regulation of receptor activity|termination of signal transduction	cytosol|endoplasmic reticulum|nucleoplasm	ATP binding|calcium-independent protein kinase C activity|enzyme activator activity|enzyme binding|insulin receptor substrate binding|metal ion binding|protein C-terminus binding			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Ovarian(412;0.0728)		OV - Ovarian serous cystadenocarcinoma(275;3.58e-08)|BRCA - Breast invasive adenocarcinoma(193;0.000142)|Kidney(197;0.00153)|KIRC - Kidney renal clear cell carcinoma(197;0.00173)		GTTCCTCAACGGGGGGGACCT	0.602													-	53220653	G	-	53220653	7	5	175	1	0	1	0	1	0	0	0	0	12595	1116	39	0	1340	0	PRKCD	3	53220653	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	778135	53220653	144801777	16	12163											
ATXN7	6314	broad.mit.edu	37	chr3	63898472	63898472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggacggcgggcccggCgccgcctccacctcggccgc	3	2	16	20	8	0	0	0	0	0	0	2	2	1	2	7	6	0	0	7	6	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:63898472C>T	uc003dlv.3	+	2	751	c.198C>T	c.(196-198)ggC>ggT	p.G66G	ATXN7_uc003dlw.4_Silent_p.G66G|ATXN7_uc021wzy.1_Silent_p.G66G|ATXN7_uc010hnu.1_Non-coding_Transcript	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	66					cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		gcgggcccggcgccgccTCCA	0.746													T	63898472	C	T	63898472	2	4	175	1	0	0	0	0	0	0	0	1	1220	755	27	1		1	ATXN7	3	63898472	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	10677819	63898472	134123958	17	12164											
ZBBX	79740	broad.mit.edu	37	chr3	167034878	167034878	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaagagctgtgtgttgtActttggtctcctcacctagg	9	14	10	8	0	2	1	1	0	1	1	3	1	2	1	2	2	2	3	2	2	4	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:167034878A>T	uc011bpc.2	-	13	1446	c.1109T>A	c.(1108-1110)gTa>gAa	p.V370E	ZBBX_uc003feq.3_Missense_Mutation_p.V341E|ZBBX_uc003fep.3_Missense_Mutation_p.V370E	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	370						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						TGTGTGTTGTACTTTGGTCTC	0.328													T	167034878	A	T	167034878	3	4	175	1	0	0	0	0	1	0	0	0	17618	391	14	5	1325	5	ZBBX	3	167034878	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	103136406	167034878	30987552	18	12165											
TMEM44	93109	broad.mit.edu	37	chr3	194325157	194325157	+	Frame_Shift_Del	DEL	G	G	-																															tgcccgtcacctggcagcctGgtggcactgcagcctgcctg																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr3:194325157delG	uc010hzn.3	-	9	1382	c.1176delC	c.(1174-1176)accfs	p.T392fs	TMEM44_uc010hzm.3_Frame_Shift_Del_p.P76fs|TMEM44_uc021xjc.1_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuc.3_Frame_Shift_Del_p.T77fs|TMEM44_uc003fuf.3_Frame_Shift_Del_p.P344fs|TMEM44_uc003fue.3_Frame_Shift_Del_p.T345fs|TMEM44_uc011bsv.2_Frame_Shift_Del_p.T345fs|TMEM44_uc003fuh.1_Non-coding_Transcript	NM_001166305	NP_001159777	Q2T9K0	TMM44_HUMAN	Homo sapiens transmembrane protein 44 (TMEM44), transcript variant 3, mRNA.	392						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|urinary_tract(1)	8	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;9.06e-06)		CTGGCAGCCTGGTGGCACTGC	0.597													-	194325157	G	-	194325157	7	5	175	1	0	1	0	1	0	0	0	0	16268	1348	47	0	293	0	TMEM44	3	194325157	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	27290279	194325157	3697273	19	12166											
KIAA0232	9778	broad.mit.edu	37	chr4	6865692	6865692	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacatcactggattccCaggaggaatcaactgggatt	12	9	10	10	0	3	1	3	0	0	1	4	5	4	5	1	4	1	0	1	4	2	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:6865692C>T	uc003gjr.4	+	6	4046	c.3583C>T	c.(3583-3585)Cag>Tag	p.Q1195*	KIAA0232_uc003gjq.4_Nonsense_Mutation_p.Q1195*	NM_014743	NP_055558	Q92628	K0232_HUMAN	Homo sapiens KIAA0232 (KIAA0232), transcript variant 1, mRNA.	1195							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						ACTGGATTCCCAGGAGGAATC	0.408													T	6865692	C	T	6865692	4	4	175	1	0	0	0	0	0	1	0	0	8221	595	21	2	3601	2	KIAA0232	4	6865692	Nonsense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		6865692	184288584	20	12167											
NAAA	27163	broad.mit.edu	37	chr4	76842123	76842123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgctccattcaaaggatctaGaggccaaatgtctgctgggc	10	9	11	11	1	3	1	1	0	2	1	4	2	4	2	2	3	1	2	2	3	3	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:76842123G>C	uc003hjb.3	-	5	884	c.820C>G	c.(820-822)Cta>Gta	p.L274V	NAAA_uc003hja.3_Missense_Mutation_p.L274V|NAAA_uc003hjc.4_Missense_Mutation_p.L274V|NAAA_uc003hjd.4_Non-coding_Transcript|NAAA_uc011cbq.2_Missense_Mutation_p.L173V	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	274					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAAGGATCTAGAGGCCAAATG	0.433													C	76842123	G	C	76842123	3	2	175	1	0	0	0	0	1	0	0	0	10203	933	33	4	286	4	NAAA	4	76842123	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	69976431	76842123	114312153	21	12168											
ETFDH	2110	broad.mit.edu	37	chr4	159603468	159603468	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgaaaaggacatccgTgtgtgtctagtggagaaagc	13	8	13	7	1	1	2	0	1	1	1	2	4	2	3	1	2	1	1	1	2	4	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr4:159603468T>C	uc003iqb.3	+	2	629	c.297T>C	c.(295-297)cgT>cgC	p.R99R	ETFDH_uc011cjg.2_Silent_p.R52R|ETFDH_uc010iqr.3_Intron|ETFDH_uc011cjh.2_Silent_p.R38R|ETFDH_uc010iqs.3_Silent_p.R38R	NM_004453	NP_004444	Q16134	ETFD_HUMAN	Homo sapiens electron-transferring-flavoprotein dehydrogenase (ETFDH), nuclear gene encoding mitochondrial protein, mRNA.	99					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		AGGACATCCGTGTGTGTCTAG	0.502													C	159603468	T	C	159603468	2	2	175	1	0	0	0	0	0	0	0	1	5312	1683	59	3		3	ETFDH	4	159603468	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	82761345	159603468	31550808	22	12169											
PCDHGC5	56104	broad.mit.edu	37	chr5	140729895	140729896	+	Frame_Shift_Del	DEL	TC	TC	-																															tcccttcctgctgtctttgtTctgcggggccatctcccagc																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr5:140729895_140729896delTC	uc003ljo.2	+	0	68_69	c.68_69delTC	c.(67-69)ttcfs	p.F23fs	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Frame_Shift_Del_p.F23fs	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	22					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTCTTTGTTCTGCGGGGCCA	0.55											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	140729896	TC	-	140729895	7	5	175	1	0	1	0	1	0	0	0	0	11647	1783	62	0		0	PCDHGC5	5	140729895	Frame_Shift_Del	DEL	TC	TCGA-26-5133-01A-01D-1486-08		140729895	40185365	23	12170											
C6orf10	10665	broad.mit.edu	37	chr6	32260945	32260945	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcatctctctcctttTctttatcattatttccttta	5	23	1	12	0	5	0	1	0	4	0	9	0	6	0	2	0	1	1	2	0	3	8			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32260945T>A	uc021yvt.1	-	22	1678	c.1505A>T	c.(1504-1506)gAa>gTa	p.E502V	C6orf10_uc011dpx.2_Intron|C6orf10_uc021yvs.1_Missense_Mutation_p.E419V|C6orf10_uc011dpz.2_Missense_Mutation_p.E500V|C6orf10_uc021yvu.1_Missense_Mutation_p.E500V|C6orf10_uc021yvv.1_Missense_Mutation_p.E486V	NM_006781	NP_006772	Q5SRN2	CF010_HUMAN	Homo sapiens chromosome 6 open reading frame 10 (C6orf10), mRNA.	502	Lys-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						tctctccttttctttatcatt	0.363													A	32260945	T	A	32260945	3	1	175	1	0	0	0	0	1	0	0	0	2339	1783	62	5	190	5	C6orf10	6	32260945	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		32260945	138854122	24	12171											
HLA-DMB	3109	broad.mit.edu	37	chr6	32903319	32903319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgagtcactcactagagtGgccagctctccgccagctga	9	7	11	14	2	3	2	2	1	1	1	4	3	3	2	3	1	3	2	3	1	1	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:32903319G>A	uc003ocl.2	-	3	996	c.733C>T	c.(733-735)Cac>Tac	p.H245Y	HLA-DMB_uc003ock.2_Non-coding_Transcript|HLA-DMB_uc010jud.2_Missense_Mutation_p.H114Y|HLA-DMB_uc010jue.2_Intron|HLA-DMB_uc010juf.2_Intron|HLA-DMB_uc003ocj.2_3'UTR	NM_002118	NP_002109	P28068	DMB_HUMAN	Homo sapiens major histocompatibility complex, class II, DM beta (HLA-DMB), mRNA.	245					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TCACTAGAGTGGCCAGCTCTC	0.537													A	32903319	G	A	32903319	3	1	175	1	0	0	0	0	1	0	0	0	7254	1348	47	2	70	2	HLA-DMB	6	32903319	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	642374	32903319	138211748	25	12172											
GRM4	2914	broad.mit.edu	37	chr6	34004117	34004117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacggccaggaagaggggCagcacggcccagggcgagcc	10	0	17	14	3	0	1	0	0	0	1	0	3	0	2	4	6	2	2	4	6	1	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:34004117C>T	uc003oir.4	-	7	2133	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	GRM4_uc011dsn.2_Silent_p.L543L|GRM4_uc010jvh.3_Silent_p.L590L|GRM4_uc010jvi.3_Silent_p.L282L|GRM4_uc003oio.3_Silent_p.L282L|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.L450L|GRM4_uc003oiq.3_Silent_p.L457L|GRM4_uc011dsm.2_Silent_p.L421L	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	590					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGAAGAGGGGCAGCACGGCCC	0.647													T	34004117	C	T	34004117	2	4	175	1	0	0	0	0	0	0	0	1	6854	697	25	2		2	GRM4	6	34004117	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	1100798	34004117	137110950	26	12173											
MCM3	4172	broad.mit.edu	37	chr6	52149470	52149470	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaccacggtacccgcCatgcccgctgccaaagaact	10	5	8	18	3	0	1	0	0	0	1	1	1	1	1	6	1	5	3	6	1	3	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr6:52149470C>G	uc003pan.1	-	0	113	c.3G>C	c.(1-3)atG>atC	p.M1I	MCM3_uc011dwu.1_5'UTR	NM_002388	NP_002379	P25205	MCM3_HUMAN	Homo sapiens minichromosome maintenance complex component 3 (MCM3), mRNA.	1					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					CGGTACCCGCCATGCCCGCTG	0.642													G	52149470	C	G	52149470	3	3	175	1	0	0	0	0	1	0	0	0	9462	594	21	4	2491	4	MCM3	6	52149470	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	18145353	52149470	118965597	27	12174											
IKZF1	10320	broad.mit.edu	37	chr7	50450397	50450397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactggccacctgaggaCgcactccggtaggtcccctg	6	7	11	17	2	1	1	1	1	0	0	3	2	3	2	6	4	0	2	6	4	1	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:50450397C>T	uc003tow.4	+	4	736	c.581C>T	c.(580-582)aCg>aTg	p.T194M	IKZF1_uc022acq.1_Intron|IKZF1_uc003tpa.4_Intron|IKZF1_uc022acr.1_Intron|IKZF1_uc022acs.1_Intron|IKZF1_uc022act.1_Missense_Mutation_p.T107M|IKZF1_uc022acu.1_Missense_Mutation_p.T107M|IKZF1_uc003tox.4_Missense_Mutation_p.T194M|IKZF1_uc022acv.1_Missense_Mutation_p.T107M|IKZF1_uc022acw.1_Missense_Mutation_p.T107M|IKZF1_uc022acx.1_Missense_Mutation_p.T194M|IKZF1_uc022acy.1_Intron|IKZF1_uc022acz.1_Intron|IKZF1_uc011kck.2_Missense_Mutation_p.T107M|IKZF1_uc003toy.4_Missense_Mutation_p.T194M|IKZF1_uc003toz.4_Missense_Mutation_p.T164M|IKZF1_uc010kyx.3_Intron	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	194	Required for both high-affinity DNA binding and pericentromeric heterochromatin localization (By similarity).				cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				CACCTGAGGACGCACTCCGGT	0.657			"D,T"	BCL6	"ALL, DLBCL"								T	50450397	C	T	50450397	3	4	175	1	0	0	0	0	1	0	0	0	7672	536	19	1	595	1	IKZF1	7	50450397	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		50450397	108688266	28	12175											
TAF6	6878	broad.mit.edu	37	chr7	99711354	99711354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccccaccagaggcgaagcgGaaaggaatgaactcctgggc	12	3	13	13	2	0	2	0	1	0	1	1	5	1	4	4	4	2	0	4	4	4	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:99711354G>A	uc003uth.3	-	2	590	c.453C>T	c.(451-453)ttC>ttT	p.F151F	TAF6_uc003utg.3_Silent_p.F35F|TAF6_uc003utm.3_Silent_p.F94F|TAF6_uc003uti.3_Silent_p.F94F|TAF6_uc003utk.3_Silent_p.F94F|TAF6_uc011kji.2_Silent_p.F131F	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	94					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGGCGAAGCGGAAAGGAATGA	0.602													A	99711354	G	A	99711354	2	1	175	1	0	0	0	0	0	0	0	1	15627	1165	41	2		2	TAF6	7	99711354	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	49260957	99711354	59427309	29	12176											
PIK3CG	5294	broad.mit.edu	37	chr7	106509904	106509904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaatgcagctcctggactGcaacttctcagatgaaaatg	14	9	8	10	0	1	2	1	1	1	1	3	3	2	3	1	1	5	3	1	1	5	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr7:106509904G>A	uc003vdv.4	+	1	1983	c.1898G>A	c.(1897-1899)tGc>tAc	p.C633Y	PIK3CG_uc003vdu.3_Missense_Mutation_p.C633Y|PIK3CG_uc003vdw.3_Missense_Mutation_p.C633Y	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	633					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTCCTGGACTGCAACTTCTCA	0.448													A	106509904	G	A	106509904	3	1	175	1	0	0	0	0	1	0	0	0	11993	1319	46	2	1900	2	PIK3CG	7	106509904	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	6798550	106509904	52628759	30	12177											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24251623	24251623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgaaacattgtactcacCcagaggagaggaaattacca	16	7	8	10	0	1	3	1	1	0	2	1	5	1	4	2	2	3	1	2	2	4	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:24251623C>A	uc003xdz.2	+	3	546	c.326C>A	c.(325-327)cCc>cAc	p.P109H	ADAMDEC1_uc010lub.2_Missense_Mutation_p.P30H|ADAMDEC1_uc011lab.1_Missense_Mutation_p.P30H	NM_014479	NP_001138744	O15204	ADEC1_HUMAN	Homo sapiens ADAM-like, decysin 1 (ADAMDEC1), transcript variant 1, mRNA.	109					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTGTACTCACCCAGAGGAGAG	0.463													A	24251623	C	A	24251623	3	1	175	1	0	0	0	0	1	0	0	0	254	623	22	4	340	4	ADAMDEC1	8	24251623	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		24251623	122112399	31	12178											
SNTB1	6641	broad.mit.edu	37	chr8	121644863	121644863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttaggatcaccgtgtgctTagcatctggagagtggattt	8	13	12	8	1	2	1	1	0	1	1	2	4	2	3	2	3	2	2	2	3	2	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr8:121644863T>C	uc010mdg.3	-	2	1043	c.817A>G	c.(817-819)Aag>Gag	p.K273E	SNTB1_uc003ype.3_Missense_Mutation_p.K273E	NM_021021	NP_066301	Q13884	SNTB1_HUMAN	Homo sapiens syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1) (SNTB1), mRNA.	273	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			ACCGTGTGCTTAGCATCTGGA	0.527													C	121644863	T	C	121644863	3	2	175	1	0	0	0	0	1	0	0	0	14966	1763	61	3	819	3	SNTB1	8	121644863	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	97393240	121644863	24719159	32	12179											
SH2D3C	10044	broad.mit.edu	37	chr9	130507361	130507361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaggggctgcaggggCggcatggacacgggttactg	8	5	20	8	2	0	1	0	0	0	1	0	2	0	2	0	8	2	5	0	8	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:130507361C>T	uc004bsc.3	-	6	1424	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T	SH2D3C_uc010mxo.3_Missense_Mutation_p.A268T|SH2D3C_uc004bry.3_Missense_Mutation_p.A270T|SH2D3C_uc004brz.4_Missense_Mutation_p.A74T|SH2D3C_uc011mak.2_Missense_Mutation_p.A74T|SH2D3C_uc004bsb.3_Missense_Mutation_p.A360T|SH2D3C_uc004bsa.3_Missense_Mutation_p.A271T	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	428					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTGCAGGGGCGGCATGGACA	0.627													T	130507361	C	T	130507361	3	4	175	1	0	0	0	0	1	0	0	0	14327	768	27	1	1324	1	SH2D3C	9	130507361	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		130507361	10706070	33	12180											
GFI1B	8328	broad.mit.edu	37	chr9	135863634	135863634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggggactctccactgtccGactcacccccattctacaag	9	9	7	16	1	3	0	1	0	2	0	5	2	4	1	4	2	1	0	4	2	2	2	rs145562579		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr9:135863634G>A	uc004ccg.3	+	3	644	c.289G>A	c.(289-291)Gac>Aac	p.D97N	GFI1B_uc010mzy.3_Missense_Mutation_p.D97N	NM_004188	NP_004179	Q5VTD9	GFI1B_HUMAN	Homo sapiens growth factor independent 1B transcription repressor (GFI1B), transcript variant 1, mRNA.	97	Interaction with ARIH2.				cell proliferation|chromatin modification|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|zinc ion binding	p.D97Y(4)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;9.04e-07)|Epithelial(140;1.17e-05)		TCCACTGTCCGACTCACCCCC	0.587													A	135863634	G	A	135863634	3	1	175	1	0	0	0	0	1	0	0	0	6396	1058	37	1	299	1	GFI1B	9	135863634	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	5356273	135863634	5349797	34	12181											
PCDH15	65217	broad.mit.edu	37	chr10	55591167	55591167	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggccccttctgtgtatccTagactttctcctctcttttt	5	18	5	13	0	3	1	0	0	3	1	6	1	4	1	4	1	0	1	4	1	3	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr10:55591167T>C	uc010qhy.1	-	30	4520	c.4125A>G	c.(4123-4125)ctA>ctG	p.L1375L	PCDH15_uc010qhq.2_Silent_p.L1375L|PCDH15_uc010qhr.2_Silent_p.L1370L|PCDH15_uc021pqv.1_Silent_p.L1370L|PCDH15_uc021pqw.1_Silent_p.L1382L|PCDH15_uc010qht.2_Silent_p.L1377L|PCDH15_uc021pqx.1_Silent_p.L1370L|PCDH15_uc001jjv.1_Intron|PCDH15_uc021pqy.1_Silent_p.L1370L|PCDH15_uc021pqz.1_Silent_p.L1348L|PCDH15_uc010qhv.1_Silent_p.L1370L|PCDH15_uc010qhw.1_Silent_p.L1333L|PCDH15_uc010qhx.1_Silent_p.L1299L|PCDH15_uc010qhz.1_Silent_p.L1370L|PCDH15_uc010qia.1_Silent_p.L1348L|PCDH15_uc001jju.1_Silent_p.L1370L|PCDH15_uc010qib.1_Silent_p.L1348L	NM_001142763	NP_001136235	Q96QU1	PCD15_HUMAN	Homo sapiens protocadherin-related 15 (PCDH15), transcript variant A, mRNA.	1370					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTGTGTATCCTAGACTTTCTC	0.483										HNSCC(58;0.16)			C	55591167	T	C	55591167	2	2	175	1	0	0	0	0	0	0	0	1	11587	1509	53	3		3	PCDH15	10	55591167	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08		55591167	79943580	35	12182											
PLA2G16	11145	broad.mit.edu	37	chr11	63381479	63381479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccgcacttacaatgggcGcacgcatcttccctcgcggt	6	8	10	17	5	1	0	0	0	1	0	3	0	2	0	3	2	1	3	3	2	2	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr11:63381479G>A	uc001nxh.2	-	0	431	c.8C>T	c.(7-9)gCg>gTg	p.A3V	PLA2G16_uc001nxi.2_Missense_Mutation_p.R32C|PLA2G16_uc009you.1_Missense_Mutation_p.A3V	NM_007069	NP_009000	P53816	PAG16_HUMAN	Homo sapiens phospholipase A2, group XVI (PLA2G16), transcript variant 1, mRNA.	3					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACAATGGGCGCACGCATCTT	0.617													A	63381479	G	A	63381479	3	1	175	1	0	0	0	0	1	0	0	0	12070	1087	38	1	496	1	PLA2G16	11	63381479	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08		63381479	71625037	36	12183											
ANO6	196527	broad.mit.edu	37	chr12	45823037	45823037	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacgaaaaatatgggggtGatagctgagcggatgataga	15	8	15	3	2	0	5	0	4	0	1	0	7	0	6	0	3	2	1	0	3	5	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:45823037G>A	uc010slf.2	+	20	3074	c.2739G>A	c.(2737-2739)gtG>gtA	p.V913V	ANO6_uc001roo.3_Silent_p.V892V|ANO6_uc010sld.1_Intron|ANO6_uc010sle.1_Intron|ANO6_uc010slg.2_Silent_p.V874V	NM_001204803	NP_001191732	Q4KMQ2	ANO6_HUMAN	Homo sapiens anoctamin 6 (ANO6), transcript variant 5, mRNA.	892					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						ATATGGGGGTGATAGCTGAGC	0.373													A	45823037	G	A	45823037	2	1	175	1	0	0	0	0	0	0	0	1	701	1277	45	2		2	ANO6	12	45823037	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08		45823037	88028858	37	12184											
STAT6	6778	broad.mit.edu	37	chr12	57490672	57490672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcactggctggctcaggCagctgtcttccaccatggtc	5	11	11	14	0	3	0	2	0	1	0	5	0	4	0	2	4	1	4	2	4	0	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:57490672C>T	uc009zpg.3	-	20	2464	c.2462G>A	c.(2461-2463)tGc>tAc	p.C821Y	STAT6_uc009zpe.3_Missense_Mutation_p.C772Y|STAT6_uc001sna.3_Missense_Mutation_p.C772Y|STAT6_uc009zpf.3_Missense_Mutation_p.C772Y|STAT6_uc010srb.2_Missense_Mutation_p.C662Y|STAT6_uc010src.2_Missense_Mutation_p.C662Y|STAT6_uc010srd.2_Missense_Mutation_p.C662Y	NM_001178081	NP_001171552	P42226	STAT6_HUMAN	Homo sapiens signal transducer and activator of transcription 6, interleukin-4 induced (STAT6), transcript variant 5, mRNA.	772					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CTGGCTCAGGCAGCTGTCTTC	0.642													T	57490672	C	T	57490672	3	4	175	1	0	0	0	0	1	0	0	0	15366	710	25	2	236	2	STAT6	12	57490672	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	11667635	57490672	76361223	38	12185											
OSBPL8	114882	broad.mit.edu	37	chr12	76791554	76791554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgatggacgttcaatgaTttcacaggcattcagaagaa	13	13	9	6	1	3	4	3	2	0	2	3	5	3	5	0	2	0	2	0	2	3	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:76791554T>C	uc001sye.1	-	7	1072	c.592A>G	c.(592-594)Atc>Gtc	p.I198V	OSBPL8_uc001syf.1_Missense_Mutation_p.I156V|OSBPL8_uc001syg.1_Missense_Mutation_p.I156V|OSBPL8_uc001syh.1_Missense_Mutation_p.I173V	NM_020841	NP_001003712	Q9BZF1	OSBL8_HUMAN	Homo sapiens oxysterol binding protein-like 8 (OSBPL8), transcript variant 1, mRNA.	198	PH.				lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						CGTTCAATGATTTCACAGGCA	0.408													C	76791554	T	C	76791554	3	2	175	1	0	0	0	0	1	0	0	0	11359	1493	52	3	2145	3	OSBPL8	12	76791554	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	19300882	76791554	57060341	39	12186											
EP400	57634	broad.mit.edu	37	chr12	132551418	132551418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcctccggtggtgtccGtcccggcagctgtggtctcc	3	9	14	15	4	1	0	0	0	1	0	5	1	4	0	5	4	2	2	5	4	1	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr12:132551418G>A	uc001ujn.3	+	48	8805	c.8653G>A	c.(8653-8655)Gtc>Atc	p.V2885I	EP400_uc021rgq.1_Missense_Mutation_p.V2884I|EP400_uc001ujm.3_Missense_Mutation_p.V2804I|EP400_uc001ujp.3_Missense_Mutation_p.V95I	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2921					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	p.V2884I(2)|p.P2885P(1)		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)		GGTGGTGTCCGTCCCGGCAGC	0.682													A	132551418	G	A	132551418	3	1	175	1	0	0	0	0	1	0	0	0	5190	1145	40	1	8840	1	EP400	12	132551418	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	55759864	132551418	1300477	40	12187											
LMO7	4008	broad.mit.edu	37	chr13	76287343	76287343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagagaagaattttgaaaCaaaagattttcgagcctctc	17	10	7	7	1	1	4	0	1	1	3	3	6	1	4	1	0	3	0	1	0	6	4	rs75385907		TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr13:76287343C>A	uc021rkq.1	+	1	430	c.95C>A	c.(94-96)aCa>aAa	p.T32K	LMO7_uc010thv.2_Missense_Mutation_p.T84K|LMO7_uc001vjt.1_Missense_Mutation_p.T32K	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	84						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AATTTTGAAACAAAAGATTTT	0.318													A	76287343	C	A	76287343	3	1	175	1	0	0	0	0	1	0	0	0	8916	478	17	4	261	4	LMO7	13	76287343	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08		76287343	38882535	41	12188											
OR11G2	390439	broad.mit.edu	37	chr14	20666093	20666093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcttgattcctatcgtcaAcatctcccaaatgtccttct	8	16	4	13	1	4	1	1	1	3	0	8	1	6	1	3	0	1	1	3	0	3	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:20666093A>G	uc010tlb.2	+	0	599	c.599A>G	c.(598-600)aAc>aGc	p.N200S		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V199I(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CCTATCGTCAACATCTCCCAA	0.448													G	20666093	A	G	20666093	3	3	175	1	0	0	0	0	1	0	0	0	11001	43	2	3	601	3	OR11G2	14	20666093	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08		20666093	86683447	42	12189											
AKAP5	9495	broad.mit.edu	37	chr14	64936331	64936331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaatgctattcagttgTcaatagaacagctggttaat	14	13	8	6	0	3	2	3	0	0	2	3	2	3	2	0	1	3	4	0	1	7	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:64936331T>C	uc021ruk.1	+	0	1219	c.1219T>C	c.(1219-1221)Tca>Cca	p.S407P	ZBTB25_uc001xhc.3_Intron|AKAP5_uc001xhd.4_Missense_Mutation_p.S407P	NM_004857	NP_004848	P24588	AKAP5_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 5 (AKAP5), mRNA.	407				S -> Y (in Ref. 3).	energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TATTCAGTTGTCAATAGAACA	0.348													C	64936331	T	C	64936331	3	2	175	1	0	0	0	0	1	0	0	0	454	1667	58	3	1221	3	AKAP5	14	64936331	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08	44270238	64936331	42413209	43	12190											
HEATR4	399671	broad.mit.edu	37	chr14	73989140	73989140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgactccagtcgtactgCtggcgcaggaagctctgcca	8	9	12	12	2	1	1	0	1	1	0	3	2	2	2	2	2	4	4	2	2	2	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:73989140C>A	uc021rwe.1	-	2	1065	c.717G>T	c.(715-717)caG>caT	p.Q239H	HEATR4_uc021rwf.1_Missense_Mutation_p.Q192H|HEATR4_uc010tub.1_Missense_Mutation_p.Q239H	NM_001220484	NP_001207413			Homo sapiens HEAT repeat containing 4 (HEATR4), transcript variant 1, mRNA.											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		AGTCGTACTGCTGGCGCAGGA	0.582													A	73989140	C	A	73989140	3	1	175	1	0	0	0	0	1	0	0	0	7085	796	28	4	2427	4	HEATR4	14	73989140	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	9052809	73989140	33360400	44	12191											
LTBP2	4053	broad.mit.edu	37	chr14	74974771	74974771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgccctcccacacacGggtctgtggtggcacactcg	7	7	11	16	2	1	0	0	0	1	0	3	0	2	0	2	3	1	1	2	3	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr14:74974771G>A	uc001xqa.3	-	24	4067	c.3680C>T	c.(3679-3681)cCg>cTg	p.P1227L		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1227	Cys-rich.|EGF-like 13; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TCCCACACACGGGTCTGTGGT	0.582													A	74974771	G	A	74974771	3	1	175	1	0	0	0	0	1	0	0	0	9144	1116	39	1	1833	1	LTBP2	14	74974771	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	985631	74974771	32374769	45	12192											
ATP8B4	79895	broad.mit.edu	37	chr15	50190419	50190419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaagttctaggagatcAttcttgacatcactttctag	12	13	7	9	0	5	2	2	1	3	1	5	3	5	2	0	1	1	2	0	1	4	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:50190419A>T	uc001zxu.3	-	21	2461	c.2319T>A	c.(2317-2319)aaT>aaA	p.N773K	ATP8B4_uc010ber.3_Missense_Mutation_p.N646K|ATP8B4_uc010ufd.2_Missense_Mutation_p.N583K|ATP8B4_uc010ufe.2_Non-coding_Transcript|ATP8B4_uc001zxv.1_Missense_Mutation_p.N71K	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	773					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTAGGAGATCATTCTTGACAT	0.398													T	50190419	A	T	50190419	3	4	175	1	0	0	0	0	1	0	0	0	1202	214	8	5	1287	5	ATP8B4	15	50190419	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08		50190419	52340973	46	12193											
C15orf60	283677	broad.mit.edu	37	chr15	73832877	73832877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaagattgtaagacgcGtggattgtctgttgtttgga	8	15	15	3	2	1	3	0	1	1	2	1	5	1	5	0	3	0	4	0	3	2	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:73832877G>A	uc002avq.3	+	2	329	c.301G>A	c.(301-303)Gtg>Atg	p.V101M	C15orf60_uc010bjb.3_Intron	NM_001042367	NP_001035826	Q7Z4M0	CO060_HUMAN	Homo sapiens chromosome 15 open reading frame 60 (C15orf60), mRNA.	101										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						TGTAAGACGCGTGGATTGTCT	0.383													A	73832877	G	A	73832877	3	1	175	1	0	0	0	0	1	0	0	0	1821	1145	40	1	311	1	C15orf60	15	73832877	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	23642458	73832877	28698515	47	12194											
KIAA1199	57214	broad.mit.edu	37	chr15	81213426	81213426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacaacctcatcaactgtgCcgctgcaggatctgaggtga	11	8	10	12	1	3	2	2	2	1	0	3	3	3	3	2	2	5	2	2	2	3	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr15:81213426C>T	uc002bfw.1	+	14	2317	c.2057C>T	c.(2056-2058)gCc>gTc	p.A686V	KIAA1199_uc010unn.1_Missense_Mutation_p.A686V	NM_018689	NP_061159	Q8WUJ3	K1199_HUMAN	Homo sapiens KIAA1199 (KIAA1199), mRNA.	686								p.A686V(2)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ATCAACTGTGCCGCTGCAGGA	0.547													T	81213426	C	T	81213426	3	4	175	1	0	0	0	0	1	0	0	0	8271	739	26	2	2111	2	KIAA1199	15	81213426	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	7380549	81213426	21317966	48	12195											
RHBDL1	9028	broad.mit.edu	37	chr16	727863	727863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcccagcttcatggcGcacctggcaggcgcggtggt	6	6	14	15	3	1	0	1	0	0	0	1	0	1	0	3	5	2	3	3	5	0	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:727863G>A	uc002cis.1	+	6	1155	c.1128G>A	c.(1126-1128)gcG>gcA	p.A376A	RHBDL1_uc002cir.1_Silent_p.A311A|RHBDL1_uc010uun.1_3'UTR|STUB1_uc002cit.3_5'Flank|STUB1_uc002ciu.3_5'Flank	NM_003961	NP_003952	O75783	RHBL1_HUMAN	Homo sapiens rhomboid, veinlet-like 1 (Drosophila) (RHBDL1), mRNA.	376					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				GCTTCATGGCGCACCTGGCAG	0.736													A	727863	G	A	727863	2	1	175	1	0	0	0	0	0	0	0	1	13410	1074	38	1		1	RHBDL1	16	727863	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08		727863	89626890	49	12196											
KIAA0430	9665	broad.mit.edu	37	chr16	15690712	15690712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctgctgagatgcaggaCgagctggagtcagaggtcag	11	6	16	8	1	2	2	2	1	0	2	2	6	2	4	0	3	4	4	0	3	0	0			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:15690712C>T	uc002ddr.3	-	26	5274	c.5067G>A	c.(5065-5067)tcG>tcA	p.S1689S	KIAA0430_uc002ddq.3_Silent_p.S1523S|KIAA0430_uc010uzv.2_Silent_p.S1686S|KIAA0430_uc010uzw.2_Silent_p.S1689S	NM_014647	NP_055462	Q9Y4F3	LKAP_HUMAN	Homo sapiens KIAA0430 (KIAA0430), transcript variant 1, mRNA.	1688	Poly-Ser.					peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						AGATGCAGGACGAGCTGGAGT	0.507													T	15690712	C	T	15690712	2	4	175	1	0	0	0	0	0	0	0	1	8235	523	19	1		1	KIAA0430	16	15690712	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08	14962849	15690712	74664041	50	12197											
ITGAX	3687	broad.mit.edu	37	chr16	31388543	31388543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaagaccaccttccagCtggagctcccggtgaagtat	10	7	10	14	1	0	2	0	1	0	1	2	3	2	3	5	2	3	4	5	2	3	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr16:31388543C>A	uc002ebt.3	+	22	2813	c.2746C>A	c.(2746-2748)Ctg>Atg	p.L916M	ITGAX_uc002ebu.1_Missense_Mutation_p.L916M	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	916					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CACCTTCCAGCTGGAGCTCCC	0.537													A	31388543	C	A	31388543	3	1	175	1	0	0	0	0	1	0	0	0	7947	796	28	4	2836	4	ITGAX	16	31388543	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	15697831	31388543	58966210	51	12198											
TP53	7157	broad.mit.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	11	13	12	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:7577580T>C	uc002gim.2	-	6	895	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	234	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 -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)			C	7577580	T	C	7577580	3	2	175	1	0	0	0	0	1	0	0	0	16482	1638	57	3	589	3	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-26-5133-01A-01D-1486-08		7577580	73617630	52	12199											
NF1	4763	broad.mit.edu	37	chr17	29667528	29667528	+	Frame_Shift_Del	DEL	G	G	-																															tatcttctttgccaggactcGcctctgcacaaagccctctt																										TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:29667528delG	uc002hgg.3	+	46	7310	c.6927delG	c.(6925-6927)tcgfs	p.S2309fs	NF1_uc002hgh.3_Frame_Shift_Del_p.S2288fs|NF1_uc010cso.3_Frame_Shift_Del_p.S497fs|NF1_uc010wbt.1_5'UTR|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2309					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S2309S(2)|p.D2308fs*11(1)|p.P2310fs*11(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCCAGGACTCGCCTCTGCACA	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29667528	G	-	29667528	7	5	175	1	0	1	0	1	0	0	0	0	10432	1074	38	0	7174	0	NF1	17	29667528	Frame_Shift_Del	DEL	G	TCGA-26-5133-01A-01D-1486-08	22089948	29667528	51527682	53	12200											
KRT31	3881	broad.mit.edu	37	chr17	39551111	39551111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtactcacttgcagtcctcGctctccagcaggctccggta	6	11	9	15	2	2	0	1	0	1	0	6	0	4	0	3	2	3	6	3	2	2	3			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:39551111G>A	uc002hwn.3	-	5	1139	c.1086C>T	c.(1084-1086)agC>agT	p.S362S	KRT31_uc010cxn.3_Silent_p.S362S	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGCAGTCCTCGCTCTCCAGCA	0.532													A	39551111	G	A	39551111	2	1	175	1	0	0	0	0	0	0	0	1	8525	1078	38	1		1	KRT31	17	39551111	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	9883583	39551111	41644099	54	12201											
MMD	23531	broad.mit.edu	37	chr17	53471726	53471726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcataaagtccgtaggacttCggtaaaggtatttccaaatg	13	11	10	7	2	0	0	0	0	0	0	3	1	2	1	2	3	0	4	2	3	7	6			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:53471726C>T	uc002iui.3	-	6	971	c.686G>A	c.(685-687)cGa>cAa	p.R229Q		NM_012329	NP_036461	Q15546	PAQRB_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated (MMD), mRNA.	229					cytolysis	integral to plasma membrane|late endosome membrane|lysosomal membrane|membrane fraction	receptor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						CGTAGGACTTCGGTAAAGGTA	0.463													T	53471726	C	T	53471726	3	4	175	1	0	0	0	0	1	0	0	0	9718	884	31	1	34	1	MMD	17	53471726	Missense_Mutation	SNP	C	TCGA-26-5133-01A-01D-1486-08	13920615	53471726	27723484	55	12202											
KCNH6	81033	broad.mit.edu	37	chr17	61611547	61611547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaccacctatgtcaacAccaatgatgaggtggtcagc	11	8	9	13	1	2	2	2	2	0	0	3	2	3	2	4	2	2	1	4	2	3	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr17:61611547A>G	uc002jay.3	+	4	1056	c.976A>G	c.(976-978)Acc>Gcc	p.T326A	KCNH6_uc002jax.1_Missense_Mutation_p.T326A|KCNH6_uc010wpl.2_Missense_Mutation_p.T203A|KCNH6_uc010wpm.2_Missense_Mutation_p.T326A|KCNH6_uc002jaz.1_Missense_Mutation_p.T326A	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	326					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTATGTCAACACCAATGATGA	0.567													G	61611547	A	G	61611547	3	3	175	1	0	0	0	0	1	0	0	0	8094	159	6	3	994	3	KCNH6	17	61611547	Missense_Mutation	SNP	A	TCGA-26-5133-01A-01D-1486-08	8139821	61611547	19583663	56	12203											
DNMT1	1786	broad.mit.edu	37	chr19	10288042	10288042	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctaggtgaaggttcAgctgtttaaagaagaaaaag	14	9	14	4	0	1	3	1	1	0	2	1	3	1	3	0	4	1	4	0	4	7	4			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:10288042A>G	uc002mng.3	-	5	626	c.446_splice	c.e5-1	p.P149_splice	DNMT1_uc010xlc.2_Splice_Site_p.A165_splice|DNMT1_uc002mnh.3_Splice_Site_p.A44_splice|DNMT1_uc010xld.2_Splice_Site_p.P149_splice|DNMT1_uc010dxb.1_Splice_Site	NM_001379	NP_001370	P26358	DNMT1_HUMAN	Homo sapiens DNA (cytosine-5-)-methyltransferase 1 (DNMT1), transcript variant 2, mRNA.	149	Interaction with DNMT3B.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GTGAAGGTTCAGCTGTTTAAA	0.398													G	10288042	A	G	10288042	2	3	175	1	0	0	0	0	0	0	0	1	4714	202	7	3		3	DNMT1	19	10288042	Silent	SNP	A	TCGA-26-5133-01A-01D-1486-08		10288042	48840941	57	12204											
PLEKHG2	64857	broad.mit.edu	37	chr19	39915859	39915859	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccggttgaaccaccctgcTctcttggcctccacacagga	7	9	9	16	1	1	1	0	1	1	0	4	2	3	2	5	3	2	2	5	3	1	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:39915859T>G	uc010xuz.2	+	18	4411	c.4086T>G	c.(4084-4086)gcT>gcG	p.A1362A	PLEKHG2_uc010xuy.2_Intron|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Silent_p.A1140A	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	1362					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ACCACCCTGCTCTCTTGGCCT	0.652													G	39915859	T	G	39915859	2	3	175	1	0	0	0	0	0	0	0	1	12146	1538	54	5		5	PLEKHG2	19	39915859	Silent	SNP	T	TCGA-26-5133-01A-01D-1486-08	29627817	39915859	19213124	58	12205											
NLRP13	126204	broad.mit.edu	37	chr19	56423467	56423467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctttgtcaagcaagacGtgttgcagtaacatcttcat	10	14	8	9	1	4	1	2	0	2	1	4	1	4	1	0	0	3	5	0	0	3	5			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr19:56423467G>A	uc010ygg.2	-	4	1741	c.1716C>T	c.(1714-1716)caC>caT	p.H572H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	572							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAGCAAGACGTGTTGCAGTA	0.423													A	56423467	G	A	56423467	2	1	175	1	0	0	0	0	0	0	0	1	10551	1136	40	1		1	NLRP13	19	56423467	Silent	SNP	G	TCGA-26-5133-01A-01D-1486-08	16507608	56423467	2705516	59	12206											
COL18A1	80781	broad.mit.edu	37	chr21	46875768	46875768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagaggagaacattgcCggtgtcggagccgagatcct	9	6	15	11	4	0	3	0	0	0	3	2	6	1	4	4	3	3	0	4	3	1	1			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chr21:46875768C>T	uc002zhi.3	+	0	345	c.324C>T	c.(322-324)gcC>gcT	p.A108A	COL18A1_uc002zhg.3_Intron	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	108					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AGAACATTGCCGGTGTCGGAG	0.642													T	46875768	C	T	46875768	2	4	175	1	0	0	0	0	0	0	0	1	3706	639	23	1		1	COL18A1	21	46875768	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		46875768	1254127	60	12207											
CITED1	4435	broad.mit.edu	37	chrX	71522708	71522708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaagtgcaggcctcgaCgttgttggcatttcagagcc	9	10	11	11	2	2	1	2	0	0	1	3	2	2	1	2	2	2	4	2	2	1	3	rs146201846	byFrequency	TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:71522708C>T	uc011mqc.2	-	2	288	c.90G>A	c.(88-90)acG>acA	p.T30T	CITED1_uc011mqd.2_Silent_p.T4T|CITED1_uc004eas.3_Silent_p.T4T|CITED1_uc004eat.3_Silent_p.T4T	NM_001144885	NP_004134	Q99966	CITE1_HUMAN	Homo sapiens Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1 (CITED1), transcript variant 2, mRNA.	4					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					CAGGCCTCGACGTTGTTGGCA	0.512													T	71522708	C	T	71522708	2	4	175	1	0	0	0	0	0	0	0	1	3470	523	19	1		1	CITED1	23	71522708	Silent	SNP	C	TCGA-26-5133-01A-01D-1486-08		71522708	83747852	61	12208											
CHRDL1	91851	broad.mit.edu	37	chrX	109922648	109922648	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaatatggaagtgctggaGaatgcctagggccaagcaaa	14	7	12	8	0	1	1	1	0	0	1	1	3	1	2	2	3	3	2	2	3	7	2			TCGA-26-5133-01A-01D-1486-08	TCGA-26-5133-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	533051f3-5ea5-41a4-8727-11dc6d786607	c47b3f6f-5f47-4588-afe6-0249eaefe1b5	g.chrX:109922648G>C	uc004eou.4	-	10	1511	c.1162C>G	c.(1162-1164)Ctc>Gtc	p.L388V	CHRDL1_uc004eov.3_Missense_Mutation_p.L377V|CHRDL1_uc004eow.3_Missense_Mutation_p.L386V|CHRDL1_uc010nps.3_Missense_Mutation_p.L387V|CHRDL1_uc011mss.2_Missense_Mutation_p.L308V	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAGTGCTGGAGAATGCCTAGG	0.453													C	109922648	G	C	109922648	3	2	175	1	0	0	0	0	1	0	0	0	3403	942	33	4	222	4	CHRDL1	23	109922648	Missense_Mutation	SNP	G	TCGA-26-5133-01A-01D-1486-08	38399940	109922648	45347912	62	12209											
GALE	2582	broad.mit.edu	37	chr1	24123528	24123528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcccttttgccttacctggGagacataaggcatgaggttg	8	13	11	9	0	0	2	0	1	0	1	1	3	1	2	3	3	2	2	3	3	2	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:24123528G>A	uc009vqo.1	-	5	848	c.638C>T	c.(637-639)tCc>tTc	p.S213F	GALE_uc001bhv.1_Missense_Mutation_p.S213F|GALE_uc001bhx.1_Missense_Mutation_p.S213F|GALE_uc001bhz.1_Missense_Mutation_p.S139F	NM_001127621	NP_001121093	Q14376	GALE_HUMAN	Homo sapiens UDP-galactose-4-epimerase (GALE), transcript variant 3, mRNA.	213					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCTTACCTGGGAGACATAAGG	0.587													A	24123528	G	A	24123528	3	1	176	1	0	0	0	0	1	0	0	0	6256	1174	41	2	432	2	GALE	1	24123528	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		24123528	225127093	1	12210											
MFSD2A	84879	broad.mit.edu	37	chr1	40431623	40431623	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtttccaggacctcaaTagctctacagtagcttcaca	10	12	6	13	0	3	0	2	0	1	0	4	1	4	1	3	1	3	4	3	1	4	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:40431623T>C	uc001cev.3	+	5	871	c.690T>C	c.(688-690)aaT>aaC	p.N230N	MFSD2A_uc010ojb.1_Silent_p.N180N|MFSD2A_uc001ceu.3_Silent_p.N217N|MFSD2A_uc010ojc.2_Silent_p.N61N|MFSD2A_uc009vvy.3_Non-coding_Transcript	NM_001136493	NP_001129965	Q8NA29	MFS2A_HUMAN	Homo sapiens major facilitator superfamily domain containing 2A (MFSD2A), transcript variant 1, mRNA.	230					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						AGGACCTCAATAGCTCTACAG	0.572													C	40431623	T	C	40431623	2	2	176	1	0	0	0	0	0	0	0	1	9605	1403	49	3		3	MFSD2A	1	40431623	Silent	SNP	T	TCGA-26-5134-01A-01D-1486-08	16308095	40431623	208818998	2	12211											
CYP4Z1	199974	broad.mit.edu	37	chr1	47583502	47583502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggcattaactctgctcCgcttcaagctggctccagac	8	10	9	14	1	2	1	1	0	1	1	4	1	4	1	2	2	3	5	2	2	2	2	rs145758676		TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr1:47583502C>T	uc001cqu.1	+	11	1417	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_178134	NP_835235	Q86W10	CP4Z1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily Z, polypeptide 1 (CYP4Z1), mRNA.	472						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						AACTCTGCTCCGCTTCAAGCT	0.468													T	47583502	C	T	47583502	3	4	176	1	0	0	0	0	1	0	0	0	4227	652	23	1	1460	1	CYP4Z1	1	47583502	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	7151879	47583502	201667119	3	12212											
ROCK2	9475	broad.mit.edu	37	chr2	11332301	11332301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttggggcaagctgtcgaCttggccgtctaatagactgg	7	12	14	8	2	1	1	0	0	1	1	2	2	1	1	1	4	1	3	1	4	3	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:11332301C>T	uc002rbd.1	-	31	4585	c.4136G>A	c.(4135-4137)aGt>aAt	p.S1379N		NM_004850	NP_004841	O75116	ROCK2_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 2 (ROCK2), mRNA.	1379					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AAGCTGTCGACTTGGCCGTCT	0.368													T	11332301	C	T	11332301	3	4	176	1	0	0	0	0	1	0	0	0	13609	565	20	2	38	2	ROCK2	2	11332301	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		11332301	231867072	4	12213											
ITSN2	50618	broad.mit.edu	37	chr2	24526701	24526701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgagtttgagaaagatttGactgaagaagggcatttcta	13	12	12	4	0	1	6	0	4	1	3	1	7	1	6	0	1	0	3	0	1	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:24526701G>A	uc002rfe.2	-	8	1082	c.824C>T	c.(823-825)tCa>tTa	p.S275L	ITSN2_uc002rff.2_Missense_Mutation_p.S275L|ITSN2_uc002rfg.3_Missense_Mutation_p.S275L|ITSN2_uc010eyd.2_Missense_Mutation_p.S300L	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	275	EH 2.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAAGATTTGACTGAAGAAG	0.318													A	24526701	G	A	24526701	3	1	176	1	0	0	0	0	1	0	0	0	7985	1294	45	2	4448	2	ITSN2	2	24526701	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	13194400	24526701	218672672	5	12214											
EIF2AK2	5610	broad.mit.edu	37	chr2	37376027	37376027	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctttgtccaaaatgcaCgcagataatcacggaagtgt	14	9	10	8	2	1	1	1	0	0	1	2	3	2	2	1	1	2	3	1	1	5	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:37376027C>T	uc010ynh.2	-	1					EIF2AK2_uc010fab.2_5'Flank|EIF2AK2_uc010yng.2_5'Flank|EIF2AK2_uc010fac.3_5'UTR|EIF2AK2_uc010fad.2_5'UTR	NM_002759	NP_002750	P19525	E2AK2_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 2 (EIF2AK2), transcript variant 1, mRNA.						evasion by virus of host immune response|modulation by virus of host cellular process|negative regulation of osteoblast proliferation|protein autophosphorylation|response to virus|viral infectious cycle	cytosol	ATP binding|double-stranded RNA binding|eukaryotic translation initiation factor 2alpha kinase activity|protein binding|protein phosphatase type 2A regulator activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)	22		all_hematologic(82;0.248)				CCAAAATGCACGCAGATAATC	0.433													T	37376027	C	T	37376027	1	4	176	1	0	0	0	0	0	0	0	0	5036	551	19	1		1	EIF2AK2	2	37376027	Translation_Start_Site	SNP	C	TCGA-26-5134-01A-01D-1486-08	12849326	37376027	205823346	6	12215											
ZNF638	27332	broad.mit.edu	37	chr2	71577393	71577393	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaacgtagaatgtagtCatttgaaggtgagtgttttt	10	17	12	2	1	1	3	1	2	0	1	1	3	1	3	0	1	1	4	0	1	5	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:71577393C>A	uc002shx.3	+	1	1632	c.1309C>A	c.(1309-1311)Cat>Aat	p.H437N	ZNF638_uc010fec.2_Missense_Mutation_p.H543N|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Missense_Mutation_p.H437N|ZNF638_uc002shz.3_Missense_Mutation_p.H437N|ZNF638_uc002shy.3_Missense_Mutation_p.H437N|ZNF638_uc002sia.3_Missense_Mutation_p.H437N|ZNF638_uc002sib.1_Missense_Mutation_p.H437N	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	437					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAATGTAGTCATTTGAAGGT	0.358													A	71577393	C	A	71577393	3	1	176	1	0	0	0	0	1	0	0	0	18156	826	29	4	1311	4	ZNF638	2	71577393	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	34201366	71577393	171621980	7	12216											
ADRA2B	151	broad.mit.edu	37	chr2	96781837	96781837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaatgaggaaggtgatggCcgccgctatggccgctgtgg	8	7	18	8	3	0	3	0	2	0	1	0	5	0	4	3	5	0	2	3	5	3	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:96781837C>T	uc021vlh.1	-	0	52	c.52G>A	c.(52-54)Gcc>Acc	p.A18T		NM_000682	NP_000673	P18089	ADA2B_HUMAN	Homo sapiens adrenergic, alpha-2B-, receptor (ADRA2B), mRNA.	18					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	AAGGTGATGGCCGCCGCTATG	0.662													T	96781837	C	T	96781837	3	4	176	1	0	0	0	0	1	0	0	0	338	739	26	2	1295	2	ADRA2B	2	96781837	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	25204444	96781837	146417536	8	12217											
WIPF1	7456	broad.mit.edu	37	chr2	175432647	175432647	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatggtggaggtgggggAggtgccccagcactgggcct	5	8	20	8	0	0	1	0	1	0	0	0	3	0	3	3	7	2	2	3	7	0	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr2:175432647A>C	uc002uiz.3	-	5	1384	c.1284T>G	c.(1282-1284)ccT>ccG	p.P428P	BC046497_uc002uiw.3_Intron|BC046497_uc002uix.1_Intron|WIPF1_uc002uja.3_Silent_p.P428P|WIPF1_uc010fqt.1_Silent_p.P428P|WIPF1_uc002ujb.2_Silent_p.P428P	NM_003387	NP_003378	O43516	WIPF1_HUMAN	Homo sapiens WAS/WASL interacting protein family, member 1 (WIPF1), transcript variant 1, mRNA.	428	Pro-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GAGGTGGGGGAGGTGCCCCAG	0.587													C	175432647	A	C	175432647	2	2	176	1	0	0	0	0	0	0	0	1	17469	291	11	5		5	WIPF1	2	175432647	Silent	SNP	A	TCGA-26-5134-01A-01D-1486-08	78650810	175432647	67766726	9	12218											
KIF15	56992	broad.mit.edu	37	chr3	44882590	44882590	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaagacaccacctcactttCaaacacatttggcaaaactc	15	9	3	14	0	2	1	2	0	0	1	3	1	2	1	2	1	2	1	2	1	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:44882590C>G	uc003cnx.4	+	28	3594	c.3445C>G	c.(3445-3447)Caa>Gaa	p.Q1149E	KIF15_uc010hiq.3_Missense_Mutation_p.Q1052E|KIF15_uc010hir.3_Missense_Mutation_p.Q197E	NM_020242	NP_064627	Q9NS87	KIF15_HUMAN	Homo sapiens kinesin family member 15 (KIF15), mRNA.	1149					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTCACTTTCAAACACATTT	0.333													G	44882590	C	G	44882590	3	3	176	1	0	0	0	0	1	0	0	0	8335	827	29	4	3559	4	KIF15	3	44882590	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		44882590	153139840	10	12219											
SETD2	29072	broad.mit.edu	37	chr3	47147485	47147485	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaacatatccaagctgcttAcctcatcattcttcagggcc	11	11	5	14	0	4	0	3	0	1	0	5	0	5	0	3	1	4	2	3	1	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:47147485A>G	uc003cqv.3	-	6	4892	c.4806_splice	c.e6+1	p.E1602_splice	SETD2_uc003cqs.3_Splice_Site_p.E1613_splice	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1613	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CAAGCTGCTTACCTCATCATT	0.368			"N, F, S, Mis"		clear cell renal carcinoma								G	47147485	A	G	47147485	5	3	176	1	0	0	0	0	0	0	1	0	14224	405	14	3	2917	3	SETD2	3	47147485	Splice_Site	SNP	A	TCGA-26-5134-01A-01D-1486-08	2264895	47147485	150874945	11	12220											
UQCRC1	7384	broad.mit.edu	37	chr3	48641675	48641675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactctcacctgacattcTcactgggcccctccacagcc	8	8	5	20	0	2	1	2	1	2	0	5	1	3	1	6	1	2	0	6	1	1	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:48641675T>C	uc003cub.1	-	4	662	c.617A>G	c.(616-618)gAg>gGg	p.E206G		NM_003365	NP_003356	P31930	QCR1_HUMAN	Homo sapiens ubiquinol-cytochrome c reductase core protein I (UQCRC1), mRNA.	206					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCTGACATTCTCACTGGGCCC	0.552													C	48641675	T	C	48641675	3	2	176	1	0	0	0	0	1	0	0	0	17121	1551	54	3	861	3	UQCRC1	3	48641675	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	1494190	48641675	149380755	12	12221											
MECOM	2122	broad.mit.edu	37	chr3	168810761	168810761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctctcctccacattcCtgggagattggctgccatgg	6	13	9	13	0	1	1	0	0	1	1	4	2	3	1	5	3	2	1	5	3	1	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:168810761C>T	uc011bpj.1	-	13	3552	c.3149G>A	c.(3148-3150)aGg>aAg	p.R1050K	MECOM_uc010hwk.1_Missense_Mutation_p.R876K|MECOM_uc003ffj.3_Missense_Mutation_p.R927K|MECOM_uc003ffi.3_Missense_Mutation_p.R862K|MECOM_uc011bpi.1_Missense_Mutation_p.R854K|MECOM_uc003ffn.3_Missense_Mutation_p.R862K|MECOM_uc003ffk.2_Missense_Mutation_p.R853K|MECOM_uc003ffl.2_Missense_Mutation_p.R1013K|MECOM_uc011bpk.1_Missense_Mutation_p.R862K	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CTCCACATTCCTGGGAGATTG	0.403													T	168810761	C	T	168810761	3	4	176	1	0	0	0	0	1	0	0	0	9497	681	24	2	586	2	MECOM	3	168810761	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	120169086	168810761	29211669	13	12222											
SAMD7	344658	broad.mit.edu	37	chr3	169656173	169656173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataagacaagcatttgAtcaaccagcagatacatccc	15	9	5	12	0	1	3	1	1	0	2	3	3	3	3	3	0	4	2	3	0	5	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr3:169656173A>G	uc003fgd.3	+	8	1487	c.1220A>G	c.(1219-1221)gAt>gGt	p.D407G	SAMD7_uc003fge.3_Missense_Mutation_p.D407G|SAMD7_uc011bpo.2_Missense_Mutation_p.D308G	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	407										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			CAAGCATTTGATCAACCAGCA	0.348													G	169656173	A	G	169656173	3	3	176	1	0	0	0	0	1	0	0	0	13915	333	12	3	1246	3	SAMD7	3	169656173	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	845412	169656173	28366257	14	12223											
PDGFRA	5156	broad.mit.edu	37	chr4	55133888	55133899	+	In_Frame_Del	DEL	GGAAAAGATTCA	GGAAAAGATTCA	-																															actgagatcaccactgatgtGgaaaagattcaggaaataag																										TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:55133888_55133899delGGAAAAGATTCA	uc003han.4	+	6	1432_1443	c.1101_1112delGGAAAAGATTCA	c.(1099-1113)gtggaaaagattcag>gtg	p.EKIQ368del	PDGFRA_uc003haa.3_Intron|PDGFRA_uc010igq.1_In_Frame_Del_p.EKIQ262del|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	368	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCACTGATGTGGAAAAGATTCAGGAAATAAGG	0.448			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			-	55133899	GGAAAAGATTCA	-	55133888	7	5	176	1	0	1	0	1	0	0	0	0	11737	1335	47	0	1123	0	PDGFRA	4	55133888	In_Frame_Del	DEL	GGAAAAGATTCA	TCGA-26-5134-01A-01D-1486-08		55133888	136020388	15	12224											
ENAM	10117	broad.mit.edu	37	chr4	71509712	71509712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acttcatcccaccaagttacCcatcaggtcaaaaagaagca	16	7	5	13	0	3	1	3	0	0	1	4	1	4	1	3	1	2	2	3	1	5	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:71509712C>A	uc011caw.1	+	8	2850	c.2569C>A	c.(2569-2571)Cca>Aca	p.P857T		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	857					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			ACCAAGTTACCCATCAGGTCA	0.448													A	71509712	C	A	71509712	3	1	176	1	0	0	0	0	1	0	0	0	5153	623	22	4	2599	4	ENAM	4	71509712	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	16375824	71509712	119644564	16	12225											
PTPN13	5783	broad.mit.edu	37	chr4	87728883	87728883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaatccacagtgataGccatgatgactcaagaagta	18	7	8	8	0	1	4	1	3	0	1	2	4	2	4	2	0	2	2	2	0	6	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:87728883G>A	uc003hpz.3	+	44	7396	c.6916G>A	c.(6916-6918)Gcc>Acc	p.A2306T	PTPN13_uc003hpy.3_Missense_Mutation_p.A2311T|PTPN13_uc003hqa.3_Missense_Mutation_p.A2287T|PTPN13_uc003hqb.3_Missense_Mutation_p.A2115T	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	2306	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CACAGTGATAGCCATGATGAC	0.453													A	87728883	G	A	87728883	3	1	176	1	0	0	0	0	1	0	0	0	12868	971	34	2	7105	2	PTPN13	4	87728883	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	16219171	87728883	103425393	17	12226											
ADH1A	124	broad.mit.edu	37	chr4	100205753	100205753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggtgccatcctgcaGggtcccctgaggattgctta	5	11	12	13	0	0	1	0	1	0	0	2	2	2	2	5	3	4	3	5	3	1	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:100205753G>T	uc003hur.2	-	4	484	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'UTR	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	124					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCATCCTGCAGGGTCCCCTGA	0.517													T	100205753	G	T	100205753	3	4	176	1	0	0	0	0	1	0	0	0	307	991	35	4	777	4	ADH1A	4	100205753	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	12476870	100205753	90948523	18	12227											
PRMT10	90826	broad.mit.edu	37	chr4	148589774	148589774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactttcccatacttttcaCaattagcactttcacctttg	10	17	2	12	0	2	0	2	0	0	0	3	0	3	0	2	0	3	1	2	0	4	8	rs147339843	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:148589774C>A	uc003ilc.3	-	5	1011	c.869G>T	c.(868-870)tGt>tTt	p.C290F	PRMT10_uc003ild.3_Missense_Mutation_p.C177F	NM_138364	NP_612373	Q6P2P2	ANM10_HUMAN	Homo sapiens protein arginine methyltransferase 10 (putative) (PRMT10), mRNA.	290						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						ATACTTTTCACAATTAGCACT	0.318													A	148589774	C	A	148589774	3	1	176	1	0	0	0	0	1	0	0	0	12622	478	17	4	1696	4	PRMT10	4	148589774	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	48384021	148589774	42564502	19	12228											
FGA	2243	broad.mit.edu	37	chr4	155508053	155508053	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaccctcgacaagatcggatCttaatatcaatgtccaccta	13	10	6	12	2	2	1	1	0	1	1	5	4	3	2	3	1	0	0	3	1	5	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr4:155508053C>G	uc003iod.1	-	4	586	c.528G>C	c.(526-528)aaG>aaC	p.K176N	FGA_uc003ioe.1_Missense_Mutation_p.K176N|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	176					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AAGATCGGATCTTAATATCAA	0.393													G	155508053	C	G	155508053	3	3	176	1	0	0	0	0	1	0	0	0	5879	912	32	4	2124	4	FGA	4	155508053	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	6918279	155508053	35646223	20	12229											
PCDHAC2	56141	broad.mit.edu	37	chr5	140215867	140215867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacactggtgagatcagcacGacacgagccctagatgagac	13	6	11	11	2	1	3	1	2	0	3	1	7	1	3	1	1	3	1	1	1	2	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr5:140215867G>A	uc003lhq.2	+	0	1899	c.1899G>A	c.(1897-1899)acG>acA	p.T633T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Silent_p.T633T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	644	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGATCAGCACGACACGAGCCC	0.647													A	140215867	G	A	140215867	2	1	176	1	0	0	0	0	0	0	0	1	11609	1045	37	1		1	PCDHAC2	5	140215867	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08		140215867	40699393	21	12230											
TRIM15	89870	broad.mit.edu	37	chr6	30131441	30131441	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggagaccggagtggaCgggctggggaaggcaccgtg	8	4	21	8	3	0	2	0	1	0	1	0	6	0	5	2	7	0	3	2	7	1	0			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:30131441C>T	uc010jrx.3	+	0					TRIM10_uc003npn.2_5'Flank|TRIM10_uc003npo.3_5'Flank	NM_033229	NP_150232	Q9C019	TRI15_HUMAN	Homo sapiens tripartite motif containing 15 (TRIM15), mRNA.						mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CCGGAGTGGACGGGCTGGGGA	0.622													T	30131441	C	T	30131441	1	4	176	1	0	0	0	0	0	0	0	0	16591	551	19	1		1	TRIM15	6	30131441	Translation_Start_Site	SNP	C	TCGA-26-5134-01A-01D-1486-08		30131441	140983626	22	12231											
HSPA1L	3305	broad.mit.edu	37	chr6	31778907	31778907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaatttctaggttggcCtgggtgctggacgacagggt	8	11	15	7	1	2	0	1	0	1	0	2	3	2	1	1	5	1	2	1	5	3	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:31778907C>A	uc003nxh.3	-	1	1026	c.843G>T	c.(841-843)caG>caT	p.Q281H	HSPA1L_uc010jte.3_Missense_Mutation_p.Q281H|HSPA1L_uc021yuz.1_Missense_Mutation_p.Q281H	NM_005527	NP_005518	P34931	HS71L_HUMAN	Homo sapiens heat shock 70kDa protein 1-like (HSPA1L), mRNA.	281					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTAGGTTGGCCTGGGTGCTGG	0.522													A	31778907	C	A	31778907	3	1	176	1	0	0	0	0	1	0	0	0	7467	680	24	4	1086	4	HSPA1L	6	31778907	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	1647466	31778907	139336160	23	12232											
PKHD1	5314	broad.mit.edu	37	chr6	51484145	51484145	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caggtacacctgctgagcagGagcacctggagcacagatgt	11	6	13	11	0	0	2	0	1	0	1	0	4	0	4	2	3	5	5	2	3	1	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:51484145G>C	uc003pah.1	-	66	12235	c.11959C>G	c.(11959-11961)Cct>Gct	p.P3987A		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3987					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGCTGAGCAGGAGCACCTGGA	0.572													C	51484145	G	C	51484145	3	2	176	1	0	0	0	0	1	0	0	0	12048	1174	41	4	269	4	PKHD1	6	51484145	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	19705238	51484145	119630922	24	12233											
MTHFD1L	25902	broad.mit.edu	37	chr6	151281413	151281413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtttgggctggttcaggcGcagtttgacatcgcagtggc	5	12	16	8	2	1	1	1	1	0	0	2	1	1	1	0	4	0	6	0	4	0	3	rs146093887	by1000genomes	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr6:151281413G>A	uc021zgs.1	+	17	1953	c.1809G>A	c.(1807-1809)gcG>gcA	p.A603A	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.A602A|MTHFD1L_uc021zgt.1_Silent_p.A537A|MTHFD1L_uc003qoc.3_Silent_p.A550A	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	602	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		TGGTTCAGGCGCAGTTTGACA	0.612													A	151281413	G	A	151281413	2	1	176	1	0	0	0	0	0	0	0	1	10004	1074	38	1		1	MTHFD1L	6	151281413	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	99797268	151281413	19833654	25	12234											
PCLO	27445	broad.mit.edu	37	chr7	82785272	82785272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgccatcctgctgaagcgGatccctaccaggtccttgct	7	10	10	14	1	0	1	0	1	0	0	3	2	3	2	5	2	5	2	5	2	2	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:82785272G>T	uc003uhx.2	-	1	974	c.685C>A	c.(685-687)Ccg>Acg	p.P229T	PCLO_uc003uhv.2_Missense_Mutation_p.P229T	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	229	Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTGAAGCGGATCCCTACCA	0.463													T	82785272	G	T	82785272	3	4	176	1	0	0	0	0	1	0	0	0	11659	1174	41	4	14856	4	PCLO	7	82785272	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		82785272	76353391	26	12235											
TFPI2	7980	broad.mit.edu	37	chr7	93519537	93519537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccccgtacaggaactggcgGcagctctgcgtgtacctgtc	6	8	12	15	3	1	0	0	0	1	0	2	1	1	1	3	3	5	4	3	3	3	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:93519537G>A	uc003umy.1	-	1	258	c.183C>T	c.(181-183)tgC>tgT	p.C61C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.C61C|TFPI2_uc003una.1_Silent_p.C50C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	61	BPTI/Kunitz inhibitor 1.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.C61Y(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GGAACTGGCGGCAGCTCTGCG	0.577													A	93519537	G	A	93519537	2	1	176	1	0	0	0	0	0	0	0	1	15909	1195	42	2		2	TFPI2	7	93519537	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	10734265	93519537	65619126	27	12236											
MOGAT3	346606	broad.mit.edu	37	chr7	100841600	100841600	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcctgcccgagctggggCtgggacaggatgaagtccag	8	5	17	11	2	0	1	0	1	0	0	1	4	1	3	3	5	2	2	3	5	1	0			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr7:100841600C>T	uc003uyc.3	-	4	707	c.540G>A	c.(538-540)caG>caA	p.Q180Q	MOGAT3_uc010lhr.3_Silent_p.Q180Q	NM_178176	NP_835470	Q86VF5	MOGT3_HUMAN	Homo sapiens monoacylglycerol O-acyltransferase 3 (MOGAT3), mRNA.	180					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					CGAGCTGGGGCTGGGACAGGA	0.657													T	100841600	C	T	100841600	2	4	176	1	0	0	0	0	0	0	0	1	9772	796	28	2		2	MOGAT3	7	100841600	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08	7322063	100841600	58297063	28	12237											
KCNU1	157855	broad.mit.edu	37	chr8	36661576	36661576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctttgtactaagcattgggtCtcttataatctatttcatca	10	18	5	8	0	4	0	2	0	2	0	5	0	4	0	0	1	2	2	0	1	5	8			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:36661576C>G	uc010lvw.3	+	2	434	c.347C>G	c.(346-348)tCt>tGt	p.S116C	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	116						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGCATTGGGTCTCTTATAATC	0.358													G	36661576	C	G	36661576	3	3	176	1	0	0	0	0	1	0	0	0	8151	913	32	4	357	4	KCNU1	8	36661576	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		36661576	109702446	29	12238											
SNX16	64089	broad.mit.edu	37	chr8	82714627	82714627	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatacctagattcttcaTccaggacatcttgatcaacc	12	14	4	11	0	4	2	2	1	2	1	5	3	5	3	3	1	2	0	3	1	5	7			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr8:82714627T>A	uc003ycn.3	-	6	1187	c.926A>T	c.(925-927)gAt>gTt	p.D309V	SNX16_uc003yco.3_Missense_Mutation_p.D280V|SNX16_uc011lft.2_Missense_Mutation_p.D309V	NM_152836	NP_690049	P57768	SNX16_HUMAN	Homo sapiens sorting nexin 16 (SNX16), transcript variant 2, mRNA.	309				LDEE -> WMR (in Ref. 1; AAG25676).	cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AGATTCTTCATCCAGGACATC	0.343													A	82714627	T	A	82714627	3	1	176	1	0	0	0	0	1	0	0	0	14981	1435	50	5	116	5	SNX16	8	82714627	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	46053051	82714627	63649395	30	12239											
TAF1L	138474	broad.mit.edu	37	chr9	32635178	32635178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatcataatccgagtggtAaaggggctgcaagctcccca	11	9	10	11	1	2	0	2	0	0	0	4	1	4	0	3	3	2	4	3	3	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:32635178A>G	uc003zrg.1	-	0	490	c.400T>C	c.(400-402)Tac>Cac	p.Y134H	AX747113_uc003zrh.1_Intron	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	134					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCCGAGTGGTAAAGGGGCTGC	0.478													G	32635178	A	G	32635178	3	3	176	1	0	0	0	0	1	0	0	0	15620	362	13	3	5084	3	TAF1L	9	32635178	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		32635178	108578253	31	12240											
PIGO	84720	broad.mit.edu	37	chr9	35090223	35090223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctgctgtctcttcCgcagcccttgactctcacac	4	11	10	16	1	2	1	1	1	2	0	5	1	3	1	2	2	2	3	2	2	0	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:35090223C>T	uc003zwd.3	-	8	3305	c.2909G>A	c.(2908-2910)cGg>cAg	p.R970Q	PIGO_uc003zwe.3_Missense_Mutation_p.R553Q|PIGO_uc003zwf.3_Missense_Mutation_p.R553Q|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_3'UTR	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	970					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CTGTCTCTTCCGCAGCCCTTG	0.607													T	35090223	C	T	35090223	3	4	176	1	0	0	0	0	1	0	0	0	11971	652	23	1	372	1	PIGO	9	35090223	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	2455045	35090223	106123208	32	12241											
NR4A3	8013	broad.mit.edu	37	chr9	102590645	102590645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccaccaccaccaccaTcaccagcagcagcatcagca	14	2	4	21	0	2	0	2	0	0	0	2	0	2	0	7	0	4	4	7	0	0	0			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr9:102590645T>C	uc022bky.1	+	3	1122	c.354T>C	c.(352-354)caT>caC	p.H118H	NR4A3_uc004bae.3_Silent_p.H107H|NR4A3_uc004baf.1_Silent_p.H107H	NM_173200	NP_008912	Q92570	NR4A3_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 3 (NR4A3), transcript variant 3, mRNA.	107					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				accaccaccatcaccaGCAGC	0.627			T	EWSR1	extraskeletal myxoid chondrosarcoma								C	102590645	T	C	102590645	2	2	176	1	0	0	0	0	0	0	0	1	10710	1432	50	3		3	NR4A3	9	102590645	Silent	SNP	T	TCGA-26-5134-01A-01D-1486-08	67500422	102590645	38622786	33	12242											
ERCC6	2074	broad.mit.edu	37	chr10	50690803	50690803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctccataaacacaggcAacgtgcctaactttcccggg	11	8	8	14	2	0	0	0	0	0	0	2	0	2	0	3	2	5	2	3	2	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:50690803A>G	uc001jhs.4	-	9	2253	c.2099T>C	c.(2098-2100)tTg>tCg	p.L700S	ERCC6_uc010qgr.2_Missense_Mutation_p.L70S|ERCC6_uc001jhr.4_Missense_Mutation_p.L100S	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	700					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AAACACAGGCAACGTGCCTAA	0.483								Direct reversal of damage;Nucleotide excision repair (NER)					G	50690803	A	G	50690803	3	3	176	1	0	0	0	0	1	0	0	0	5258	131	5	3	2430	3	ERCC6	10	50690803	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		50690803	84843944	34	12243											
NOC3L	64318	broad.mit.edu	37	chr10	96099659	96099659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcactggagtacaatctcaAcaccttcattggtagcacct	11	10	8	12	0	2	0	2	0	1	0	3	1	2	1	2	3	3	4	2	3	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr10:96099659A>G	uc001kjq.1	-	16	1887	c.1799T>C	c.(1798-1800)gTt>gCt	p.V600A		NM_022451	NP_071896	Q8WTT2	NOC3L_HUMAN	Homo sapiens nucleolar complex associated 3 homolog (S. cerevisiae) (NOC3L), mRNA.	600						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TACAATCTCAACACCTTCATT	0.433													G	96099659	A	G	96099659	3	3	176	1	0	0	0	0	1	0	0	0	10590	43	2	3	623	3	NOC3L	10	96099659	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	45408856	96099659	39435088	35	12244											
OR4A16	81327	broad.mit.edu	37	chr11	55111268	55111268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttataggactcactgtgGttgccaatggtggaataatt	11	14	10	6	0	1	0	1	0	0	0	1	2	1	2	1	4	1	1	1	4	5	6			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55111268G>T	uc010rie.2	+	0	592	c.592G>T	c.(592-594)Gtt>Ttt	p.V198F		NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 16 (OR4A16), mRNA.	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ACTCACTGTGGTTGCCAATGG	0.428													T	55111268	G	T	55111268	3	4	176	1	0	0	0	0	1	0	0	0	11117	1261	44	4	594	4	OR4A16	11	55111268	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		55111268	79895248	36	12245											
OR5I1	10798	broad.mit.edu	37	chr11	55703585	55703585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaactgcagggcacaccCataataggaaatagatttgt	17	9	8	7	0	0	1	0	0	0	1	0	2	0	2	1	2	2	2	1	2	6	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:55703585C>A	uc010ris.2	-	0	292	c.292G>T	c.(292-294)Ggg>Tgg	p.G98W		NM_006637	NP_006628	Q13606	OR5I1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily I, member 1 (OR5I1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G98V(1)|p.G98G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						AGGGCACACCCATAATAGGAA	0.428													A	55703585	C	A	55703585	3	1	176	1	0	0	0	0	1	0	0	0	11240	594	21	4	655	4	OR5I1	11	55703585	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	592317	55703585	79302931	37	12246											
OR8K3	219473	broad.mit.edu	37	chr11	56085869	56085869	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggcaccattatttgcAttgttcctcatgatctatgt	8	16	7	10	0	2	1	1	1	1	0	3	1	3	1	2	1	2	4	2	1	2	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:56085869A>G	uc010rjf.2	+	0	87	c.87A>G	c.(85-87)gcA>gcG	p.A29A		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					CATTATTTGCATTGTTCCTCA	0.433													G	56085869	A	G	56085869	2	3	176	1	0	0	0	0	0	0	0	1	11320	204	8	3		3	OR8K3	11	56085869	Silent	SNP	A	TCGA-26-5134-01A-01D-1486-08	382284	56085869	78920647	38	12247											
C11orf2	738	broad.mit.edu	37	chr11	64876151	64876151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagatcgtggaacgagtggCccgcgagcgcctgggccacc	7	4	17	13	5	0	1	0	0	0	1	1	5	0	2	4	4	2	0	4	4	1	0			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:64876151C>T	uc001ocr.1	+	4	1248	c.1208C>T	c.(1207-1209)gCc>gTc	p.A403V	C11orf2_uc001ocs.1_Missense_Mutation_p.A279V	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	403					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						GAACGAGTGGCCCGCGAGCGC	0.761													T	64876151	C	T	64876151	3	4	176	1	0	0	0	0	1	0	0	0	1644	739	26	2	1226	2	C11orf2	11	64876151	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	8790282	64876151	70130365	39	12248											
OR8D4	338662	broad.mit.edu	37	chr11	123777373	123777373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctattcttctgtcattaccCctaaaatgctatcagggttt	9	16	6	10	0	4	0	2	0	2	0	4	0	4	0	2	1	2	3	2	1	5	7			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:123777373C>A	uc010saa.2	+	0	235	c.235C>A	c.(235-237)Cct>Act	p.P79T		NM_001005197	NP_001005197	Q8NGM9	OR8D4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 4 (OR8D4), mRNA.	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(16)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.93e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0409)		TGTCATTACCCCTAAAATGCT	0.358													A	123777373	C	A	123777373	3	1	176	1	0	0	0	0	1	0	0	0	11309	623	22	4	237	4	OR8D4	11	123777373	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	58901222	123777373	11229143	40	12249											
VSIG2	23584	broad.mit.edu	37	chr11	124618351	124618351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttctggaacctgaccagGcagaacgcagcaactgacag	12	7	10	12	1	2	3	0	2	2	1	2	4	2	4	2	2	4	3	2	2	3	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr11:124618351G>A	uc001qas.3	-	5	862	c.786C>T	c.(784-786)tgC>tgT	p.C262C	VSIG2_uc001qat.3_Silent_p.C262C	NM_014312	NP_055127	Q96IQ7	VSIG2_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 2 (VSIG2), mRNA.	262						integral to plasma membrane|membrane fraction		p.F261F(1)		central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		ACCTGACCAGGCAGAACGCAG	0.617													A	124618351	G	A	124618351	2	1	176	1	0	0	0	0	0	0	0	1	17326	1195	42	2		2	VSIG2	11	124618351	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	840978	124618351	10388165	41	12250											
CD163L1	283316	broad.mit.edu	37	chr12	7527492	7527492	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagatacatttgcgaggCatggaaacagtggctgggtc	10	9	15	7	1	1	1	1	0	0	1	2	3	1	2	0	5	3	2	0	5	2	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:7527492C>A	uc010sge.2	-	11	3085	c.3059G>T	c.(3058-3060)tGc>tTc	p.C1020F	CD163L1_uc001qsy.3_Missense_Mutation_p.C1010F	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	1010						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						ATTTGCGAGGCATGGAAACAG	0.463											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7527492	C	A	7527492	3	1	176	1	0	0	0	0	1	0	0	0	2998	710	25	4	1364	4	CD163L1	12	7527492	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		7527492	126324403	42	12251											
GRIP1	23426	broad.mit.edu	37	chr12	66773075	66773075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccactggctgtggacCggtcccagtcttcataactc	7	11	8	15	1	2	0	1	0	1	0	4	1	3	1	3	3	2	1	3	3	2	3	rs145115262	by1000genomes	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:66773075C>T	uc001stk.3	-	18	2691	c.2450G>A	c.(2449-2451)cGg>cAg	p.R817Q	GRIP1_uc010sta.1_Missense_Mutation_p.R761Q|GRIP1_uc001stj.3_Missense_Mutation_p.R599Q|GRIP1_uc001stm.3_Missense_Mutation_p.R817Q|GRIP1_uc001stl.1_Missense_Mutation_p.R709Q	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	869					androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GGCTGTGGACCGGTCCCAGTC	0.517													T	66773075	C	T	66773075	3	4	176	1	0	0	0	0	1	0	0	0	6842	652	23	1	804	1	GRIP1	12	66773075	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	59245583	66773075	67078820	43	12252											
LRRC43	254050	broad.mit.edu	37	chr12	122672375	122672375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggaaagtctctacgtcaCcgctaatcactggtaactcg	10	11	8	12	3	3	0	2	0	1	0	5	1	3	1	1	2	2	2	1	2	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr12:122672375C>T	uc009zxm.3	+	3	675	c.650C>T	c.(649-651)aCc>aTc	p.T217I	LRRC43_uc001ubw.4_Missense_Mutation_p.T32I|LRRC43_uc009zxn.3_5'Flank|LRRC43_uc009zxl.1_Non-coding_Transcript	NM_001098519	NP_689972	Q8N309	LRC43_HUMAN	Homo sapiens leucine rich repeat containing 43 (LRRC43), transcript variant 1, mRNA.	217										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTACGTCACCGCTAATCAC	0.562													T	122672375	C	T	122672375	3	4	176	1	0	0	0	0	1	0	0	0	9071	507	18	2	664	2	LRRC43	12	122672375	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	55899300	122672375	11179520	44	12253											
NBEA	26960	broad.mit.edu	37	chr13	35685025	35685025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccaccatacgcagagtaGgaacagtattacagctaatg	16	7	8	10	1	0	1	0	0	0	1	0	2	0	2	2	1	4	4	2	1	6	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr13:35685025G>C	uc021rid.1	+	12	2446	c.1912G>C	c.(1912-1914)Gga>Cga	p.G638R	NBEA_uc021ric.1_Missense_Mutation_p.G638R	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	638						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACGCAGAGTAGGAACAGTATT	0.368													C	35685025	G	C	35685025	3	2	176	1	0	0	0	0	1	0	0	0	10263	1001	35	4	1962	4	NBEA	13	35685025	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		35685025	79484853	45	12254											
OR4K2	390431	broad.mit.edu	37	chr14	20344857	20344857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggtgtgtgttgctcTcgtggtggcttcctggatta	3	15	13	10	1	1	0	0	0	1	0	4	1	3	1	3	4	1	3	3	4	1	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:20344857T>C	uc001vwh.1	+	0	431	c.431T>C	c.(430-432)cTc>cCc	p.L144P		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTGTTGCTCTCGTGGTGGCT	0.463													C	20344857	T	C	20344857	3	2	176	1	0	0	0	0	1	0	0	0	11148	1551	54	3	433	3	OR4K2	14	20344857	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08		20344857	87004683	46	12255											
PCNX	22990	broad.mit.edu	37	chr14	71540387	71540387	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatgctgcatttagccagCgatggctagcttgggaagtg	9	12	13	7	1	0	0	0	0	0	0	0	2	0	1	1	2	5	4	1	2	4	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:71540387C>T	uc001xmo.2	+	26	5424	c.4978C>T	c.(4978-4980)Cga>Tga	p.R1660*	PCNX_uc010are.1_Nonsense_Mutation_p.R1549*|PCNX_uc010arf.1_Nonsense_Mutation_p.R448*	NM_014982	NP_055797	Q96RV3	PCX1_HUMAN	Homo sapiens pecanex homolog (Drosophila) (PCNX), mRNA.	1660						integral to membrane		p.R1660*(2)		NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTAGCCAGCGATGGCTAGC	0.438													T	71540387	C	T	71540387	4	4	176	1	0	0	0	0	0	1	0	0	11667	760	27	1	5084	1	PCNX	14	71540387	Nonsense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	51195530	71540387	35809153	47	12256											
EML5	161436	broad.mit.edu	37	chr14	89168805	89168805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacctggcctgttgccacGtagtctttcaaaggatgaat	9	12	9	11	1	2	1	1	1	1	0	2	2	2	2	4	2	2	2	4	2	4	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr14:89168805G>A	uc021ryf.1	-	13	2472	c.2223C>T	c.(2221-2223)taC>taT	p.Y741Y	EML5_uc021ryg.1_Silent_p.Y741Y|EML5_uc001xxh.1_5'UTR	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	741						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTGTTGCCACGTAGTCTTTCA	0.368													A	89168805	G	A	89168805	2	1	176	1	0	0	0	0	0	0	0	1	5141	1140	40	1		1	EML5	14	89168805	Silent	SNP	G	TCGA-26-5134-01A-01D-1486-08	17628418	89168805	18180735	48	12257											
AQR	9716	broad.mit.edu	37	chr15	35168164	35168164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagagggataaaagtttctAtctccagaatctgagcagcc	14	9	10	8	0	3	3	0	1	3	2	4	5	3	4	2	1	2	2	2	1	5	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168164A>G	uc001ziv.3	-	27	3390	c.3209T>C	c.(3208-3210)aTa>aCa	p.I1070T		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1070						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAAAGTTTCTATCTCCAGAAT	0.358													G	35168164	A	G	35168164	3	3	176	1	0	0	0	0	1	0	0	0	838	449	16	3	1280	3	AQR	15	35168164	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08		35168164	67363228	49	12258			1	30		2	2	12	N	C_A	2.20305e-05
AQR	9716	broad.mit.edu	37	chr15	35168175	35168175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtttctatctccagaatCtgagcagcctcttccatcaa	12	12	5	12	0	5	2	1	1	4	1	7	2	6	2	3	0	2	2	3	0	4	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:35168175C>T	uc001ziv.3	-	27	3379	c.3198G>A	c.(3196-3198)caG>caA	p.Q1066Q		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	1066						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		TCTCCAGAATCTGAGCAGCCT	0.353													T	35168175	C	T	35168175	2	4	176	1	0	0	0	0	0	0	0	1	838	912	32	2		2	AQR	15	35168175	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08	11	35168175	67363217	50	12259			1	30		2	2	12	N	C_A	2.20305e-05
NOX5	79400	broad.mit.edu	37	chr15	69324094	69324094	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacggggccatcaccttcGaggagctccgggacgagctg	8	5	15	13	4	1	0	1	0	0	0	3	4	2	2	3	4	3	3	3	4	1	1			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr15:69324094G>T	uc002ars.2	+	3	603	c.562G>T	c.(562-564)Gag>Tag	p.E188*	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Nonsense_Mutation_p.E142*|NOX5_uc002arp.2_Nonsense_Mutation_p.E170*|NOX5_uc010bid.2_Nonsense_Mutation_p.E153*|NOX5_uc010bie.2_5'UTR|NOX5_uc002arr.2_Nonsense_Mutation_p.E160*|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	188	EF-hand 4.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CATCACCTTCGAGGAGCTCCG	0.677													T	69324094	G	T	69324094	4	4	176	1	0	0	0	0	0	1	0	0	10635	1059	37	4	609	4	NOX5	15	69324094	Nonsense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08	34155919	69324094	33207298	51	12260											
PAPD5	64282	broad.mit.edu	37	chr16	50263117	50263117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggcttccaaggtacaactCaaacaagccatggttccttg	13	9	8	11	0	1	0	1	0	0	0	3	0	3	0	3	3	4	3	3	3	6	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr16:50263117C>G	uc010vgo.2	+	12	2010	c.1975C>G	c.(1975-1977)Caa>Gaa	p.Q659E	PAPD5_uc002efz.3_Missense_Mutation_p.Q612E|PAPD5_uc010cbi.2_Intron	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN	Homo sapiens PAP associated domain containing 5 (PAPD5), transcript variant 1, mRNA.	533					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGGTACAACTCAAACAAGCCA	0.433													G	50263117	C	G	50263117	3	3	176	1	0	0	0	0	1	0	0	0	11501	827	29	4	2025	4	PAPD5	16	50263117	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08		50263117	40091636	52	12261											
INPP5K	51763	broad.mit.edu	37	chr17	1419767	1419767	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacctgagcctcctgcctttCggcccgctcagcttccgcga	4	9	9	19	4	1	1	1	1	0	0	4	2	3	1	6	1	3	2	6	1	0	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:1419767C>G	uc002fsr.3	-	0	416	c.27G>C	c.(25-27)ccG>ccC	p.P9P	INPP5K_uc002fss.3_5'UTR|INPP5K_uc002fsq.3_5'UTR|INPP5K_uc010cjr.3_5'UTR|INPP5K_uc010vql.2_5'UTR|INPP5K_uc010vqm.2_Silent_p.P9P|INPP5K_uc010cjs.2_Silent_p.P9P|LOC100306951_uc021tne.1_5'Flank	NM_016532	NP_570122	Q9BT40	INP5K_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase K (INPP5K), transcript variant 1, mRNA.	9					actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						TCCTGCCTTTCGGCCCGCTCA	0.756													G	1419767	C	G	1419767	2	3	176	1	0	0	0	0	0	0	0	1	7818	871	31	4		4	INPP5K	17	1419767	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08		1419767	79775443	53	12262											
PHF12	57649	broad.mit.edu	37	chr17	27233967	27233967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacagcacattgtccaccgTtgtcccatgctcactgtagt	9	12	7	13	1	1	0	1	0	0	0	3	0	3	0	3	0	3	4	3	0	2	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr17:27233967T>C	uc002hdg.1	-	13	3117	c.2587A>G	c.(2587-2589)Acg>Gcg	p.T863A	PHF12_uc010wbb.1_Missense_Mutation_p.T845A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	863	FHA.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCCACCGTTGTCCCATGC	0.507													C	27233967	T	C	27233967	3	2	176	1	0	0	0	0	1	0	0	0	11900	1725	60	3	435	3	PHF12	17	27233967	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08	25814200	27233967	53961243	54	12263											
DSG3	1830	broad.mit.edu	37	chr18	29052357	29052357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggaacaattcatcagtggGgaattgaaggagcccatcct	14	8	11	8	0	2	1	2	1	0	0	3	4	3	4	2	4	2	0	2	4	5	2			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr18:29052357G>A	uc002kws.3	+	12	2117	c.2008G>A	c.(2008-2010)Gga>Aga	p.G670R	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	670					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TCATCAGTGGGGAATTGAAGG	0.428													A	29052357	G	A	29052357	3	1	176	1	0	0	0	0	1	0	0	0	4817	1233	43	2	2058	2	DSG3	18	29052357	Missense_Mutation	SNP	G	TCGA-26-5134-01A-01D-1486-08		29052357	49024891	55	12264											
S1PR4	8698	broad.mit.edu	37	chr19	3179828	3179828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccgtcgaggctcactcCggagcttccaccaccgacag	7	5	12	17	5	1	0	1	0	0	0	4	3	3	1	5	3	1	2	5	3	0	1	rs147906636	byFrequency	TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:3179828C>T	uc002lxg.3	+	0	1093	c.1038C>T	c.(1036-1038)tcC>tcT	p.S346S		NM_003775	NP_003766	O95977	S1PR4_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 4 (S1PR4), mRNA.	346					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						AGGCTCACTCCGGAGCTTCCA	0.687													T	3179828	C	T	3179828	2	4	176	1	0	0	0	0	0	0	0	1	13887	639	23	1		1	S1PR4	19	3179828	Silent	SNP	C	TCGA-26-5134-01A-01D-1486-08		3179828	55949155	56	12265											
TYK2	7297	broad.mit.edu	37	chr19	10463654	10463654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggtagtactcgtggccttCgggcacggccttggctaggc	4	9	16	12	4	0	0	0	0	0	0	2	0	0	0	2	6	1	4	2	6	3	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:10463654C>T	uc002moc.4	-	21	3526	c.3148G>A	c.(3148-3150)Gaa>Aaa	p.E1050K	TYK2_uc010dxe.3_Missense_Mutation_p.E865K	NM_003331	NP_003322	P29597	TYK2_HUMAN	Homo sapiens tyrosine kinase 2 (TYK2), mRNA.	1050	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGTGGCCTTCGGGCACGGCC	0.652													T	10463654	C	T	10463654	3	4	176	1	0	0	0	0	1	0	0	0	16912	893	31	1	431	1	TYK2	19	10463654	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	7283826	10463654	48665329	57	12266											
CD33	945	broad.mit.edu	37	chr19	51728575	51728575	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcactttcttccatcccAtaccctactacgacaagaac	11	10	3	17	1	1	1	0	0	1	1	3	2	3	1	4	0	5	1	4	0	5	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr19:51728575A>T	uc002pwa.2	+	1	179	c.139A>T	c.(139-141)Ata>Tta	p.I47L	CD33_uc010eos.1_Missense_Mutation_p.I47L|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	47	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding	p.P46H(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CTTCCATCCCATACCCTACTA	0.532													T	51728575	A	T	51728575	3	4	176	1	0	0	0	0	1	0	0	0	3035	217	8	5	145	5	CD33	19	51728575	Missense_Mutation	SNP	A	TCGA-26-5134-01A-01D-1486-08	41264921	51728575	7400408	58	12267											
FAM113A	64773	broad.mit.edu	37	chr20	2819125	2819125	+	Splice_Site	DEL	C	C	-																															gagcctgccaggggctggagCtaagtgagaaagtgcagcct																										TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:2819125delC	uc002wgz.1	-	6	1092	c.595_splice	c.e6-1	p.L199_splice	FAM113A_uc010zqa.1_Splice_Site_p.L46_splice|FAM113A_uc002whc.1_Splice_Site_p.L148_splice|VPS16_uc002whe.3_5'Flank|VPS16_uc002whf.3_5'Flank	NM_022760	NP_073597	Q9H1Q7	F113A_HUMAN	Homo sapiens family with sequence similarity 113, member A (FAM113A), mRNA.	199							hydrolase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(4)	17						GGGGCTGGAGCTAAGTGAGAA	0.572													-	2819125	C	-	2819125	8	5	176	1	0	1	0	1	0	0	1	0	5446	811	28	0	782	0	FAM113A	20	2819125	Splice_Site	DEL	C	TCGA-26-5134-01A-01D-1486-08		2819125	60206395	59	12268											
ISM1	140862	broad.mit.edu	37	chr20	13260546	13260546	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaagatcagccagaatatgGtgagtttaccacctagtaat	15	10	8	8	0	1	3	1	1	0	2	1	3	1	3	3	1	2	2	3	1	6	5			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:13260546G>T	uc010gce.1	+	3	649	c.643_splice	c.e3+1	p.D215_splice	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	215						extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						CCAGAATATGGTGAGTTTACC	0.498													T	13260546	G	T	13260546	5	4	176	1	0	0	0	0	0	0	1	0	7918	1275	44	4	654	4	ISM1	20	13260546	Splice_Site	SNP	G	TCGA-26-5134-01A-01D-1486-08	10441421	13260546	49764974	60	12269											
CSTF1	1477	broad.mit.edu	37	chr20	54974411	54974411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaacactggtcagatacaCgggtatgtgagacgttgatg	12	9	13	7	3	1	3	1	2	0	2	1	5	1	3	0	2	2	2	0	2	3	3			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr20:54974411C>T	uc002xxl.1	+	4	1234	c.1034C>T	c.(1033-1035)aCg>aTg	p.T345M	CSTF1_uc002xxm.1_Missense_Mutation_p.T345M|CSTF1_uc002xxn.1_Missense_Mutation_p.T345M	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	345					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GTCAGATACACGGGTATGTGA	0.373													T	54974411	C	T	54974411	3	4	176	1	0	0	0	0	1	0	0	0	4016	536	19	1	1048	1	CSTF1	20	54974411	Missense_Mutation	SNP	C	TCGA-26-5134-01A-01D-1486-08	41713865	54974411	8051109	61	12270											
CXADR	1525	broad.mit.edu	37	chr21	18933791	18933791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaagttcatcacgataTcaggtaattaagtgagacag	17	9	10	5	1	3	1	3	1	0	1	3	4	3	2	0	2	0	2	0	2	5	4			TCGA-26-5134-01A-01D-1486-08	TCGA-26-5134-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11956d98-4ba5-486f-ae79-05aacebe0631	7a2da706-da57-4677-8c2f-ef27469a04de	g.chr21:18933791T>C	uc002yki.3	+	5	1054	c.830T>C	c.(829-831)aTc>aCc	p.I277T	CXADR_uc002ykh.2_Intron|CXADR_uc010gld.2_Intron|CXADR_uc010gle.2_Intron|CXADR_uc021whp.1_Missense_Mutation_p.I236T|CXADR_uc002ykj.2_Missense_Mutation_p.I277T	NM_001338	NP_001329	P78310	CXAR_HUMAN	Homo sapiens coxsackie virus and adenovirus receptor (CXADR), transcript variant 1, mRNA.	277					blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		CATCACGATATCAGGTAATTA	0.363													C	18933791	T	C	18933791	3	2	176	1	0	0	0	0	1	0	0	0	4109	1435	50	3	852	3	CXADR	21	18933791	Missense_Mutation	SNP	T	TCGA-26-5134-01A-01D-1486-08		18933791	29196104	62	12271											
HCRTR1	3061	broad.mit.edu	37	chr1	32084853	32084853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggcagcagagagccGtcccctgtgcctccagacta	7	6	10	18	1	0	2	0	0	0	2	2	3	2	2	7	1	3	2	7	1	1	1	rs142288232		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:32084853G>A	uc009vtx.2	+	2	445	c.60G>A	c.(58-60)ccG>ccA	p.P20P	HCRTR1_uc001btc.4_5'UTR|HCRTR1_uc001btd.2_Silent_p.P20P|HCRTR1_uc010ogl.2_Silent_p.P20P	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	20					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		GCAGAGAGCCGTCCCCTGTGC	0.607													A	32084853	G	A	32084853	2	1	177	1	0	0	0	0	0	0	0	1	7056	1132	40	1		1	HCRTR1	1	32084853	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		32084853	217165768	1	12272											
MSH4	4438	broad.mit.edu	37	chr1	76269590	76269590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagctggacaccacaagtggGatattcaggtaaaataagtg	15	8	12	6	0	1	0	1	0	0	0	1	3	1	2	1	3	1	2	1	3	5	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:76269590G>A	uc001dhd.2	+	1	534	c.419G>A	c.(418-420)gGa>gAa	p.G140E		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	140					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						CCACAAGTGGGATATTCAGGT	0.313								Mismatch excision repair (MMR)					A	76269590	G	A	76269590	3	1	177	1	0	0	0	0	1	0	0	0	9948	1174	41	2	425	2	MSH4	1	76269590	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	44184737	76269590	172981031	2	12273											
KCNA10	3744	broad.mit.edu	37	chr1	111061339	111061339	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcatagcctggctctTcttggatttcatctgaatta	7	16	9	9	0	4	1	1	1	3	0	4	2	4	2	1	3	1	2	1	3	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:111061339T>A	uc001dzt.1	-	0	459	c.71A>T	c.(70-72)gAa>gTa	p.E24V		NM_005549	NP_005540	Q16322	KCA10_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 10 (KCNA10), mRNA.	24						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCTGGCTCTTCTTGGATTTC	0.522													A	111061339	T	A	111061339	3	1	177	1	0	0	0	0	1	0	0	0	8060	1783	62	5	1468	5	KCNA10	1	111061339	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	34791749	111061339	138189282	3	12274											
TRIM33	51592	broad.mit.edu	37	chr1	114969900	114969900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgctttcaaaatatgaCgcaactggaaagtaatctta	15	11	7	8	2	2	1	1	1	1	0	2	2	2	2	1	1	2	3	1	1	7	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:114969900C>T	uc001eew.3	-	7	1403	c.1319G>A	c.(1318-1320)cGt>cAt	p.R440H	TRIM33_uc010owr.2_Missense_Mutation_p.R48H|TRIM33_uc010ows.2_Missense_Mutation_p.R48H|TRIM33_uc001eex.3_Missense_Mutation_p.R440H	NM_015906	NP_056990	Q9UPN9	TRI33_HUMAN	Homo sapiens tripartite motif containing 33 (TRIM33), transcript variant a, mRNA.	440					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAAATATGACGCAACTGGAA	0.353			T	RET	papillary thyroid								T	114969900	C	T	114969900	3	4	177	1	0	0	0	0	1	0	0	0	16608	536	19	1	2116	1	TRIM33	1	114969900	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	3908561	114969900	134280721	4	12275											
CRTC2	200186	broad.mit.edu	37	chr1	153927550	153927550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctactcacctggaactcGgccaggccagagccaatctg	9	7	11	14	1	3	1	1	0	2	1	4	2	3	2	4	4	3	0	4	4	3	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:153927550G>A	uc021pab.1	-	1	405	c.246C>T	c.(244-246)gcC>gcT	p.A82A	CRTC2_uc001fde.4_5'Flank|CRTC2_uc001fdf.4_5'Flank	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	82					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCTGGAACTCGGCCAGGCCAG	0.547													A	153927550	G	A	153927550	2	1	177	1	0	0	0	0	0	0	0	1	3931	1103	39	1		1	CRTC2	1	153927550	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	38957650	153927550	95323071	5	12276											
GON4L	54856	broad.mit.edu	37	chr1	155791284	155791284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacattggcatatcttccGtctcactgatggctgctttc	8	14	7	12	1	2	1	1	1	2	0	5	1	3	1	1	2	2	3	1	2	2	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:155791284G>A	uc001flz.2	-	4	1041	c.944C>T	c.(943-945)aCg>aTg	p.T315M	GON4L_uc001fly.1_Missense_Mutation_p.T315M|GON4L_uc009wrh.1_Missense_Mutation_p.T315M|GON4L_uc001fma.1_Missense_Mutation_p.T315M|GON4L_uc001fmc.3_Missense_Mutation_p.T315M|GON4L_uc001fmd.4_Missense_Mutation_p.T315M|GON4L_uc009wri.3_5'UTR|GON4L_uc001fme.3_Missense_Mutation_p.T143M|GON4L_uc001fmf.3_Missense_Mutation_p.T9M	NM_001037533	NP_001032622	Q3T8J9	GON4L_HUMAN	Homo sapiens gon-4-like (C. elegans) (GON4L), transcript variant 1, mRNA.	315					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CATATCTTCCGTCTCACTGAT	0.398													A	155791284	G	A	155791284	3	1	177	1	0	0	0	0	1	0	0	0	6625	1145	40	1	6007	1	GON4L	1	155791284	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	1863734	155791284	93459337	6	12277											
SPTA1	6708	broad.mit.edu	37	chr1	158609712	158609712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgttgaacctctgttgaCgactggcctcattgagcttc	6	15	10	10	1	2	3	1	3	1	0	3	4	2	3	2	1	2	3	2	1	1	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:158609712C>T	uc001fst.1	-	33	5022	c.4823G>A	c.(4822-4824)cGt>cAt	p.R1608H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1608					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1608C(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTCTGTTGACGACTGGCCTC	0.463													T	158609712	C	T	158609712	3	4	177	1	0	0	0	0	1	0	0	0	15212	536	19	1	2512	1	SPTA1	1	158609712	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2818428	158609712	90640909	7	12278											
DUSP27	92235	broad.mit.edu	37	chr1	167096396	167096396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgatggggacacgacGtcagtactgagcacccagag	11	5	14	11	3	1	3	1	2	0	1	1	5	1	4	1	2	3	3	1	2	1	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:167096396G>A	uc001geb.1	+	4	2044	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	676					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637													A	167096396	G	A	167096396	2	1	177	1	0	0	0	0	0	0	0	1	4863	1132	40	1		1	DUSP27	1	167096396	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	8486684	167096396	82154225	8	12279											
C4BPB	725	broad.mit.edu	37	chr1	207263727	207263727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtggaaggacagattctgGggacttacgtttgtatcaag	11	11	14	5	1	2	1	1	0	1	1	2	4	2	4	0	5	1	2	0	5	4	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:207263727G>T	uc009xcd.3	+	1	423	c.103G>T	c.(103-105)Ggg>Tgg	p.G35W	C4BPB_uc001hfi.3_Missense_Mutation_p.G44W|C4BPB_uc001hfj.3_Missense_Mutation_p.G45W|C4BPB_uc001hfl.3_Missense_Mutation_p.G45W|C4BPB_uc001hfk.3_Missense_Mutation_p.G44W|C4BPB_uc001hfm.3_Missense_Mutation_p.G45W|C4BPB_uc010pse.1_Missense_Mutation_p.G35W	NM_001017366	NP_001017366	P20851	C4BPB_HUMAN	Homo sapiens complement component 4 binding protein, beta (C4BPB), transcript variant 4, mRNA.	45	Sushi 1.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						ACAGATTCTGGGGACTTACGT	0.473													T	207263727	G	T	207263727	3	4	177	1	0	0	0	0	1	0	0	0	2272	1232	43	4	139	4	C4BPB	1	207263727	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	40167331	207263727	41986894	9	12280											
OR2L13	284521	broad.mit.edu	37	chr1	248263039	248263039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctccatggcctacgaccGttatttggccatctgccact	7	11	8	15	2	1	0	0	0	1	0	2	2	2	0	6	2	2	1	6	2	2	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr1:248263039G>A	uc001ids.3	+	2	699	c.362G>A	c.(361-363)cGt>cAt	p.R121H	OR2L13_uc021pmc.1_Missense_Mutation_p.R121H	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.R121H(3)|p.R121S(1)|p.R121C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			GCCTACGACCGTTATTTGGCC	0.498													A	248263039	G	A	248263039	3	1	177	1	0	0	0	0	1	0	0	0	11082	1145	40	1	364	1	OR2L13	1	248263039	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	40999312	248263039	987582	10	12281											
C2orf70	339778	broad.mit.edu	37	chr2	26798883	26798883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catggagaagagccacactcCcttcagccaaggcggccatt	11	6	10	14	1	1	2	1	0	0	2	2	3	2	2	4	3	2	0	4	3	2	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:26798883C>T	uc010eyn.3	+	1	188	c.188C>T	c.(187-189)cCc>cTc	p.P63L		NM_001105519	NP_001098989	A6NJV1	CB070_HUMAN	Homo sapiens chromosome 2 open reading frame 70 (C2orf70), mRNA.	63										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						AGCCACACTCCCTTCAGCCAA	0.637													T	26798883	C	T	26798883	3	4	177	1	0	0	0	0	1	0	0	0	2211	623	22	2	194	2	C2orf70	2	26798883	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08		26798883	216400490	11	12282											
VAMP5	10791	broad.mit.edu	37	chr2	85818867	85818867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaatagagttggagcGgtgccagcagcaggcgaacg	11	4	18	8	3	0	1	0	0	0	1	0	4	0	3	1	5	5	4	1	5	3	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:85818867G>A	uc002spu.1	+	1	106	c.23G>A	c.(22-24)cGg>cAg	p.R8Q		NM_006634	NP_006625	O95183	VAMP5_HUMAN	Homo sapiens vesicle-associated membrane protein 5 (myobrevin) (VAMP5), mRNA.	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						GAGTTGGAGCGGTGCCAGCAG	0.602													A	85818867	G	A	85818867	3	1	177	1	0	0	0	0	1	0	0	0	17218	1116	39	1	29	1	VAMP5	2	85818867	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	59019984	85818867	157380506	12	12283											
SEMA4C	54910	broad.mit.edu	37	chr2	97533539	97533539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagacactgtcttacgcgGcacaaggttccaccacacct	12	7	8	14	2	1	2	0	0	1	2	2	2	2	2	3	2	1	2	3	2	3	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr2:97533539G>A	uc002sxg.4	-						SEMA4C_uc002sxh.4_Missense_Mutation_p.P29S	NM_017789	NP_060259	Q9C0C4	SEM4C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C (SEMA4C), mRNA.						muscle cell differentiation|nervous system development|positive regulation of stress-activated MAPK cascade	cell junction|integral to membrane|postsynaptic density|postsynaptic membrane|synaptic vesicle membrane	receptor activity			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						GTCTTACGCGGCACAAGGTTC	0.642													A	97533539	G	A	97533539	3	1	177	1	0	0	0	0	1	0	0	0	14126	1203	42	2	2472	2	SEMA4C	2	97533539	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	11714672	97533539	145665834	13	12284											
FYCO1	79443	broad.mit.edu	37	chr3	45996750	45996750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctactcactgttcagccGcatttgggtcgagagaatca	9	11	9	12	2	4	1	3	0	1	1	5	3	4	1	2	1	2	2	2	1	2	3	rs140583635		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:45996750G>A	uc011bal.1	-	12	4047	c.3935C>T	c.(3934-3936)gCg>gTg	p.A1312V	FYCO1_uc003cpb.4_Missense_Mutation_p.A1312V	NM_024513	NP_078789	Q9BQS8	FYCO1_HUMAN	Homo sapiens FYVE and coiled-coil domain containing 1 (FYCO1), mRNA.	1312					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGTTCAGCCGCATTTGGGTC	0.498													A	45996750	G	A	45996750	3	1	177	1	0	0	0	0	1	0	0	0	6177	1087	38	1	521	1	FYCO1	3	45996750	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		45996750	152025680	14	12285											
PFKFB4	5210	broad.mit.edu	37	chr3	48563038	48563038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtacttgtcctggtccCgcagggcgaactccagtgga	7	8	13	13	3	0	0	0	0	0	0	3	2	3	1	4	4	2	2	4	4	2	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:48563038C>T	uc003ctv.3	-	9	1069	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	PFKFB4_uc003ctx.3_Missense_Mutation_p.R308Q|PFKFB4_uc010hkb.3_Missense_Mutation_p.R344Q|PFKFB4_uc003ctw.3_Missense_Mutation_p.R160Q|PFKFB4_uc010hkc.3_Intron|PFKFB4_uc011bbm.2_Missense_Mutation_p.R340Q|PFKFB4_uc011bbn.1_Non-coding_Transcript	NM_004567	NP_004558	Q16877	F264_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 (PFKFB4), mRNA.	351	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		GTCCTGGTCCCGCAGGGCGAA	0.562													T	48563038	C	T	48563038	3	4	177	1	0	0	0	0	1	0	0	0	11840	652	23	1	377	1	PFKFB4	3	48563038	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2566288	48563038	149459392	15	12286											
NISCH	11188	broad.mit.edu	37	chr3	52521957	52521957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctttgcaccccagcacatgGccatgctgtgtagccccatc	7	9	9	16	0	0	0	0	0	0	0	1	0	0	0	5	1	4	5	5	1	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:52521957G>A	uc003ded.4	+	15	2583	c.2449G>A	c.(2449-2451)Gcc>Acc	p.A817T	NISCH_uc003dee.4_Missense_Mutation_p.A306T|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	817	Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCAGCACATGGCCATGCTGTG	0.622													A	52521957	G	A	52521957	3	1	177	1	0	0	0	0	1	0	0	0	10508	1203	42	2	2511	2	NISCH	3	52521957	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	3958919	52521957	145500473	16	12287											
ADCY5	111	broad.mit.edu	37	chr3	123046533	123046533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgaggtaggcgttgcgctCgcccccacagcctggctcca	5	8	12	16	3	0	1	0	1	0	0	2	1	1	1	4	3	2	4	4	3	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:123046533C>T	uc003egh.2	-	6	1879	c.1879G>A	c.(1879-1881)Gag>Aag	p.E627K	ADCY5_uc021xdd.1_Missense_Mutation_p.E277K|ADCY5_uc003egg.2_Missense_Mutation_p.E260K|ADCY5_uc003egi.1_Missense_Mutation_p.E186K	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	627					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.E627K(2)|p.G626G(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCGTTGCGCTCGCCCCCACAG	0.642													T	123046533	C	T	123046533	3	4	177	1	0	0	0	0	1	0	0	0	297	893	31	1	1966	1	ADCY5	3	123046533	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	70524576	123046533	74975897	17	12288											
RBP2	5948	broad.mit.edu	37	chr3	139195249	139195249	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccttcatgtagcccTcaaagttttcattactctcc	8	13	6	14	0	4	0	3	0	1	0	5	0	4	0	4	1	2	2	4	1	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:139195249T>C	uc003eth.3	-	0	104	c.53A>G	c.(52-54)gAg>gGg	p.E18G		NM_004164	NP_004155	P50120	RET2_HUMAN	Homo sapiens retinol binding protein 2, cellular (RBP2), mRNA.	18					epidermis development|retinoid metabolic process|steroid metabolic process|vitamin A metabolic process	cytosol	retinal binding|retinol binding|transporter activity			breast(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12					Vitamin A(DB00162)	CATGTAGCCCTCAAAGTTTTC	0.562													C	139195249	T	C	139195249	3	2	177	1	0	0	0	0	1	0	0	0	13244	1551	54	3	367	3	RBP2	3	139195249	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	16148716	139195249	58827181	18	12289											
PSMD2	5708	broad.mit.edu	37	chr3	184021749	184021749	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagtcaggagctcttctTgcctgtggcatagtgaactc	7	14	11	9	0	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:184021749T>C	uc003fnn.1	+	10	1371	c.1338T>C	c.(1336-1338)ctT>ctC	p.L446L	PSMD2_uc011brj.1_Silent_p.L287L|PSMD2_uc011brk.1_Silent_p.L316L	NM_002808	NP_002799	Q13200	PSMD2_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 2 (PSMD2), mRNA.	446					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGCTCTTCTTGCCTGTGGCA	0.512													C	184021749	T	C	184021749	2	2	177	1	0	0	0	0	0	0	0	1	12783	1799	63	3		3	PSMD2	3	184021749	Silent	SNP	T	TCGA-26-5135-01A-01D-1486-08	44826500	184021749	14000681	19	12290											
LRRC15	131578	broad.mit.edu	37	chr3	194080518	194080518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggattgtcatacagccGcagctcacacagtttcccca	10	8	8	15	1	2	0	2	0	0	0	3	1	3	1	4	1	3	3	4	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr3:194080518G>A	uc003ftt.3	-	2	1398	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	LRRC15_uc003ftu.3_Missense_Mutation_p.R419W|LRRC15_uc021xiy.1_Missense_Mutation_p.R419W	NM_001135057	NP_570843	Q8TF66	LRC15_HUMAN	Homo sapiens leucine rich repeat containing 15 (LRRC15), transcript variant 1, mRNA.	419	LRRCT.					integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TCATACAGCCGCAGCTCACAC	0.577													A	194080518	G	A	194080518	3	1	177	1	0	0	0	0	1	0	0	0	9040	1086	38	1	494	1	LRRC15	3	194080518	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	10058769	194080518	3941912	20	12291											
ADD1	118	broad.mit.edu	37	chr4	2930135	2930135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccctcagctgtcgaggaggGggccgccgcggaccctggca	5	4	16	16	4	1	0	1	0	0	0	2	3	1	2	5	5	1	2	5	5	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:2930135G>A	uc003gfq.3	+	14	2380	c.2192G>A	c.(2191-2193)gGg>gAg	p.G731E	ADD1_uc003gfo.3_3'UTR|ADD1_uc003gfp.3_3'UTR|ADD1_uc003gfr.3_Missense_Mutation_p.G700E|ADD1_uc003gfs.3_3'UTR	NM_014189	NP_054908	P35611	ADDA_HUMAN	Homo sapiens adducin 1 (alpha) (ADD1), transcript variant 2, mRNA.	700	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCGAGGAGGGGGCCGCCGCG	0.662													A	2930135	G	A	2930135	3	1	177	1	0	0	0	0	1	0	0	0	304	1232	43	2	2284	2	ADD1	4	2930135	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		2930135	188224141	21	12292											
RXFP1	59350	broad.mit.edu	37	chr4	159538309	159538309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaataacgtcctcacccGtttacctgataaacctctct	11	12	5	13	2	2	2	1	2	1	0	4	3	3	2	4	0	3	1	4	0	5	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:159538309G>A	uc003ipz.3	+	8	970	c.707G>A	c.(706-708)cGt>cAt	p.R236H	RXFP1_uc010iqj.2_Missense_Mutation_p.R65H|RXFP1_uc010iqk.3_Missense_Mutation_p.R104H|RXFP1_uc011cja.2_Missense_Mutation_p.R155H|RXFP1_uc010iqo.3_Missense_Mutation_p.R236H|RXFP1_uc011cjb.2_Missense_Mutation_p.R182H|RXFP1_uc011cjc.2_Missense_Mutation_p.R155H|RXFP1_uc011cjd.2_Missense_Mutation_p.R155H|RXFP1_uc010iql.3_Missense_Mutation_p.R104H|RXFP1_uc011cje.2_Missense_Mutation_p.R263H|RXFP1_uc010iqm.3_Missense_Mutation_p.R203H|RXFP1_uc011cjf.2_Missense_Mutation_p.R106H|RXFP1_uc010iqn.3_Missense_Mutation_p.R182H	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	236						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GTCCTCACCCGTTTACCTGAT	0.363													A	159538309	G	A	159538309	3	1	177	1	0	0	0	0	1	0	0	0	13850	1145	40	1	741	1	RXFP1	4	159538309	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	156608174	159538309	31615967	22	12293											
ODZ3	55714	broad.mit.edu	37	chr4	183713542	183713542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaccatgcagaccatccGatccattggctactaccgca	11	7	6	17	2	0	1	0	0	0	1	2	2	2	1	6	1	3	3	6	1	2	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr4:183713542G>A	uc003ivd.1	+	24	5792	c.5717G>A	c.(5716-5718)cGa>cAa	p.R1906Q		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	1906					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CAGACCATCCGATCCATTGGC	0.542													A	183713542	G	A	183713542	3	1	177	1	0	0	0	0	1	0	0	0	10912	1058	37	1	5815	1	ODZ3	4	183713542	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	24175233	183713542	7440734	23	12294											
SLC6A19	340024	broad.mit.edu	37	chr5	1216784	1216784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcgccacacagcgctaCgacgactgcttcagcacgtg	8	7	10	16	6	1	0	1	0	0	0	2	2	2	0	2	0	4	3	2	0	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:1216784C>T	uc003jbw.4	+	6	1055	c.999C>T	c.(997-999)taC>taT	p.Y333Y		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	333					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CACAGCGCTACGACGACTGCT	0.617													T	1216784	C	T	1216784	2	4	177	1	0	0	0	0	0	0	0	1	14776	547	19	1		1	SLC6A19	5	1216784	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		1216784	179698476	24	12295											
UGT3A1	133688	broad.mit.edu	37	chr5	35955903	35955903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgggcacaccatgaCggatggcctccattacgctg	9	7	10	15	2	0	1	0	1	0	0	1	2	1	2	5	3	1	2	5	3	1	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:35955903C>T	uc003jjv.2	-	5	1332	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R380H|UGT3A1_uc011cor.2_Missense_Mutation_p.R346H	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	380						integral to membrane	glucuronosyltransferase activity	p.R380C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CACACCATGACGGATGGCCTC	0.493													T	35955903	C	T	35955903	3	4	177	1	0	0	0	0	1	0	0	0	17065	536	19	1	440	1	UGT3A1	5	35955903	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	34739119	35955903	144959357	25	12296											
HCN1	348980	broad.mit.edu	37	chr5	45262136	45262136	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctggagggactcctcGgttcggggggatggctcccg	3	8	20	10	3	0	0	0	0	0	0	4	3	2	3	2	8	1	3	2	8	0	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45262136G>A	uc003jok.3	-	7	2585	c.2560C>T	c.(2560-2562)Cga>Tga	p.R854*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	854						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GGGACTCCTCGGTTCGGGGGG	0.632													A	45262136	G	A	45262136	4	1	177	1	0	0	0	0	0	1	0	0	7051	1124	39	1	116	1	HCN1	5	45262136	Nonsense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	9306233	45262136	135653124	26	12297											
HCN1	348980	broad.mit.edu	37	chr5	45353296	45353296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcatgtatcttctgaCgcatatcagctggtaactta	12	14	7	8	1	4	1	2	1	2	0	4	1	4	1	0	1	2	5	0	1	5	6			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:45353296C>T	uc003jok.3	-	4	1308	c.1283G>A	c.(1282-1284)cGt>cAt	p.R428H		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	428						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R428H(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TATCTTCTGACGCATATCAGC	0.338													T	45353296	C	T	45353296	3	4	177	1	0	0	0	0	1	0	0	0	7051	536	19	1	1405	1	HCN1	5	45353296	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	91160	45353296	135561964	27	12298											
PTCD2	79810	broad.mit.edu	37	chr5	71634538	71634538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaggagagcatcctgtttCgctgtggcattagctctgaa	8	12	11	10	1	1	2	0	1	1	1	4	3	3	2	2	2	2	5	2	2	2	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:71634538C>T	uc003kcb.3	+	6	739	c.729C>T	c.(727-729)ttC>ttT	p.F243F	PTCD2_uc011csf.1_Silent_p.F53F|PTCD2_uc003kcc.3_Silent_p.F91F|PTCD2_uc011csg.2_Silent_p.F71F|PTCD2_uc011csh.2_Silent_p.F134F|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	243										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		CATCCTGTTTCGCTGTGGCAT	0.423													T	71634538	C	T	71634538	2	4	177	1	0	0	0	0	0	0	0	1	12813	883	31	1		1	PTCD2	5	71634538	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	26281242	71634538	109280722	28	12299											
FCHO2	115548	broad.mit.edu	37	chr5	72370577	72370577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatattctaggtgtgtcaCggggtcccagccctgtcagc	6	12	12	11	1	3	0	2	0	1	0	4	0	4	0	2	3	2	1	2	3	3	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:72370577C>T	uc003kcl.3	+	19	1704	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	FCHO2_uc011csl.2_Missense_Mutation_p.R497W|FCHO2_uc010izb.3_5'UTR|FCHO2_uc011csn.2_5'UTR	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	530								p.R530W(4)|p.R530R(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		AGGTGTGTCACGGGGTCCCAG	0.403													T	72370577	C	T	72370577	3	4	177	1	0	0	0	0	1	0	0	0	5837	527	19	1	1666	1	FCHO2	5	72370577	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	736039	72370577	108544683	29	12300											
ARRDC3	57561	broad.mit.edu	37	chr5	90672545	90672545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggctttcacccaatagcGcacactgccatgtcggcctt	7	11	8	15	3	1	0	1	0	0	0	3	0	1	0	3	2	2	2	3	2	2	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:90672545G>A	uc003kjz.2	-	2	643	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_020801	NP_065852	Q96B67	ARRD3_HUMAN	Homo sapiens arrestin domain containing 3 (ARRDC3), mRNA.	135					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	18		all_cancers(142;2.22e-05)|all_epithelial(76;1.58e-07)|all_lung(232;0.000521)|Lung NSC(167;0.000548)|Ovarian(174;0.0798)|Colorectal(57;0.207)		OV - Ovarian serous cystadenocarcinoma(54;4.56e-30)|Epithelial(54;7.55e-26)|all cancers(79;3.63e-22)		ACCCAATAGCGCACACTGCCA	0.398													A	90672545	G	A	90672545	3	1	177	1	0	0	0	0	1	0	0	0	989	1087	38	1	865	1	ARRDC3	5	90672545	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	18301968	90672545	90242715	30	12301											
SLIT3	6586	broad.mit.edu	37	chr5	168112721	168112721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgttggcctggggtcggaCcttggcggaggccagttcca	5	9	17	10	2	0	0	0	0	0	0	2	3	1	2	4	7	0	2	4	7	0	3	rs143177032		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr5:168112721C>T	uc010jjg.3	-	30	3967	c.3547G>A	c.(3547-3549)Gtc>Atc	p.V1183I	SLIT3_uc003mab.3_Missense_Mutation_p.V1176I	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	1176	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGTCGGACCTTGGCGGAG	0.607													T	168112721	C	T	168112721	3	4	177	1	0	0	0	0	1	0	0	0	14835	507	18	2	1069	2	SLIT3	5	168112721	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	77440176	168112721	12802539	31	12302											
OR12D2	26529	broad.mit.edu	37	chr6	29364964	29364964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactccgtaatgacttctcGcttgaacttctgtggttcca	7	14	8	12	2	2	2	0	2	2	0	5	2	4	2	2	1	1	4	2	1	2	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29364964G>A	uc003nmf.4	+	0	549	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_013936	NP_039224	P58182	O12D2_HUMAN	Homo sapiens olfactory receptor, family 12, subfamily D, member 2 (OR12D2), mRNA.	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S162F(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATGACTTCTCGCTTGAACTTC	0.468													A	29364964	G	A	29364964	3	1	177	1	0	0	0	0	1	0	0	0	11007	1087	38	1	490	1	OR12D2	6	29364964	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		29364964	141750103	32	12303											
HLA-G	3135	broad.mit.edu	37	chr6	29797340	29797340	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaggacgtggagctcgtGgagaccaggcctgcagggga	9	4	17	11	2	0	1	0	0	0	1	1	5	0	4	3	6	2	2	3	6	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:29797340G>C	uc003nnw.2	+	4	943	c.765G>C	c.(763-765)gtG>gtC	p.V255V	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Silent_p.V227V|HLA-G_uc003raj.3_Silent_p.V260V|HLA-G_uc003nnz.3_Silent_p.V163V|HLA-G_uc010jrn.2_Intron|HLA-G_uc003nny.3_Non-coding_Transcript|HLA-G_uc021ytv.1_Intron|HLA-G_uc003ran.1_5'Flank	NM_002127	NP_002118	P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, G (HLA-G), mRNA.	255	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TGGAGCTCGTGGAGACCAGGC	0.632													C	29797340	G	C	29797340	2	2	177	1	0	0	0	0	0	0	0	1	7267	1335	47	4		4	HLA-G	6	29797340	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	432376	29797340	141317727	33	12304											
SKIV2L	6499	broad.mit.edu	37	chr6	31936703	31936703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgaagctggcagggcGggtggcttgtgccatgagca	7	8	17	9	1	0	2	0	2	0	0	0	2	0	2	1	4	3	4	1	4	1	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:31936703G>A	uc003nyn.1	+	25	3625	c.3236G>A	c.(3235-3237)cGg>cAg	p.R1079Q	SKIV2L_uc011dou.1_Missense_Mutation_p.R921Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R886Q|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1079						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGGCAGGGCGGGTGGCTTGT	0.592													A	31936703	G	A	31936703	3	1	177	1	0	0	0	0	1	0	0	0	14453	1116	39	1	3338	1	SKIV2L	6	31936703	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	2139363	31936703	139178364	34	12305											
HMGCLL1	54511	broad.mit.edu	37	chr6	55360237	55360237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaagggccgtaaggatatTtgctaaggcttgtccgtatg	9	12	13	7	2	0	1	0	1	0	0	1	2	1	2	2	3	1	4	2	3	5	6			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:55360237T>C	uc003pcn.3	-	7	1024	c.865A>G	c.(865-867)Aat>Gat	p.N289D	HMGCLL1_uc011dxe.2_Intron|HMGCLL1_uc003pco.3_Missense_Mutation_p.N259D|HMGCLL1_uc010jzx.3_Missense_Mutation_p.N160D|HMGCLL1_uc011dxc.2_Missense_Mutation_p.N227D|HMGCLL1_uc011dxd.2_Missense_Mutation_p.N156D	NM_019036	NP_061909	Q8TB92	HMGC2_HUMAN	Homo sapiens 3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1 (HMGCLL1), transcript variant 1, mRNA.	289							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTAAGGATATTTGCTAAGGCT	0.398													C	55360237	T	C	55360237	3	2	177	1	0	0	0	0	1	0	0	0	7285	1841	64	3	259	3	HMGCLL1	6	55360237	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08	23423534	55360237	115754830	35	12306											
TIAM2	26230	broad.mit.edu	37	chr6	155504465	155504465	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgttttctgagaagagCgtcggactcactctgattgc	7	12	11	11	2	3	3	1	2	2	2	4	5	3	4	1	1	2	1	1	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr6:155504465C>G	uc003qqb.3	+	15	4168	c.2895C>G	c.(2893-2895)agC>agG	p.S965R	TIAM2_uc003qqe.3_Missense_Mutation_p.S965R|TIAM2_uc010kjj.3_Missense_Mutation_p.S498R|TIAM2_uc003qqf.3_Missense_Mutation_p.S341R|TIAM2_uc011efl.1_Missense_Mutation_p.S301R|TIAM2_uc003qqg.3_Missense_Mutation_p.S277R	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	965	PDZ.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGAGAAGAGCGTCGGACTCA	0.527													G	155504465	C	G	155504465	3	3	177	1	0	0	0	0	1	0	0	0	15991	767	27	4	2937	4	TIAM2	6	155504465	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	100144228	155504465	15610602	36	12307											
PIK3CG	5294	broad.mit.edu	37	chr7	106508579	106508579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcggaggtggccagccgCgaccccaagctctacgccat	8	5	13	15	4	1	0	0	0	1	0	1	2	1	1	5	4	3	1	5	4	2	1	rs145944814		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:106508579C>T	uc003vdv.4	+	1	658	c.573C>T	c.(571-573)cgC>cgT	p.R191R	PIK3CG_uc003vdu.3_Silent_p.R191R|PIK3CG_uc003vdw.3_Silent_p.R191R	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	191					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.R191S(1)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGGCCAGCCGCGACCCCAAGC	0.612													T	106508579	C	T	106508579	2	4	177	1	0	0	0	0	0	0	0	1	11993	755	27	1		1	PIK3CG	7	106508579	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		106508579	52630084	37	12308											
CTTNBP2	83992	broad.mit.edu	37	chr7	117368153	117368153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacttacttcactgtcaCttgggcatgcccaggaacta	9	11	9	12	0	2	0	2	0	0	0	2	1	2	1	1	3	3	2	1	3	3	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:117368153C>A	uc003vjf.3	-	16	4137	c.4045G>T	c.(4045-4047)Gtg>Ttg	p.V1349L		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	1349										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCACTGTCACTTGGGCATGC	0.493													A	117368153	C	A	117368153	3	1	177	1	0	0	0	0	1	0	0	0	4078	565	20	4	974	4	CTTNBP2	7	117368153	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	10859574	117368153	41770510	38	12309											
RNF133	168433	broad.mit.edu	37	chr7	122338662	122338662	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaacctccccgttcaataAgtgcaagccaggtctctgag	11	9	8	13	1	2	1	1	1	1	0	4	1	3	1	4	1	4	2	4	1	5	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:122338662A>C	uc003vkj.1	-	0	547	c.311T>G	c.(310-312)cTt>cGt	p.L104R	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	104	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCGTTCAATAAGTGCAAGCCA	0.458													C	122338662	A	C	122338662	3	2	177	1	0	0	0	0	1	0	0	0	13530	72	3	5	823	5	RNF133	7	122338662	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	4970509	122338662	36800001	39	12310											
GCC1	79571	broad.mit.edu	37	chr7	127222596	127222596	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagttgctccagttccaaGtccttctcggtgagcacagc	7	10	10	14	2	1	1	0	1	1	0	5	1	4	1	3	1	3	5	3	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:127222596G>A	uc003vma.3	-	1	2218	c.1800C>T	c.(1798-1800)gaC>gaT	p.D600D		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	600						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCAGTTCCAAGTCCTTCTCGG	0.627													A	127222596	G	A	127222596	2	1	177	1	0	0	0	0	0	0	0	1	6339	1020	36	2		2	GCC1	7	127222596	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	4883934	127222596	31916067	40	12311											
KEL	3792	broad.mit.edu	37	chr7	142643377	142643377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcctgtctcctccaCgcacttcatccatcgtgggc	6	10	9	16	3	2	0	1	0	1	0	6	1	4	0	4	1	2	1	4	1	1	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr7:142643377C>T	uc003wcb.3	-	10	1441	c.1231G>A	c.(1231-1233)Gtg>Atg	p.V411M		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	411					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GTCTCCTCCACGCACTTCATC	0.567													T	142643377	C	T	142643377	3	4	177	1	0	0	0	0	1	0	0	0	8200	536	19	1	1003	1	KEL	7	142643377	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	15420781	142643377	16495286	41	12312											
ADAM7	8756	broad.mit.edu	37	chr8	24324411	24324411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatataacctgagggtgccGtatggtgccaattattcctg	11	12	10	8	1	0	1	0	1	0	0	1	1	1	1	4	2	3	1	4	2	6	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:24324411G>A	uc003xeb.3	+	5	602	c.489G>A	c.(487-489)ccG>ccA	p.P163P	ADAM7_uc003xea.1_Silent_p.P163P	NM_003817	NP_003808	Q9H2U9	ADAM7_HUMAN	Homo sapiens ADAM metallopeptidase domain 7 (ADAM7), mRNA.	163					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	p.V162A(1)		NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGGTGCCGTATGGTGCCA	0.388													A	24324411	G	A	24324411	2	1	177	1	0	0	0	0	0	0	0	1	251	1132	40	1		1	ADAM7	8	24324411	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		24324411	122039611	42	12313											
SLCO5A1	81796	broad.mit.edu	37	chr8	70667740	70667740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatttctccttcagaacatCgtcatcactaacagcatcaa	13	12	4	12	1	5	2	4	1	1	1	7	2	5	2	1	0	3	1	1	0	3	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:70667740C>T	uc003xyl.3	-	3	1884	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N	SLCO5A1_uc010lzb.3_Missense_Mutation_p.D393N|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Missense_Mutation_p.D393N|SLCO5A1_uc010lzc.2_Missense_Mutation_p.D393N	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	393						integral to membrane|plasma membrane	transporter activity	p.D393N(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			TTCAGAACATCGTCATCACTA	0.363													T	70667740	C	T	70667740	3	4	177	1	0	0	0	0	1	0	0	0	14825	884	31	1	1397	1	SLCO5A1	8	70667740	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	46343329	70667740	75696282	43	12314											
MTSS1	9788	broad.mit.edu	37	chr8	125568545	125568545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggtgggccgctggcGgtagtgggtcctcccccgtt	2	9	17	13	3	0	0	0	0	0	0	2	0	2	0	4	5	1	5	4	5	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr8:125568545G>A	uc003yrl.2	-	12	1878	c.1344C>T	c.(1342-1344)acC>acT	p.T448T	NDUFB9_uc011lim.1_Intron|MTSS1_uc003yrh.2_5'UTR|MTSS1_uc011lin.1_Silent_p.T218T|MTSS1_uc011lio.1_Silent_p.T334T|MTSS1_uc003yri.2_Silent_p.T162T|MTSS1_uc003yrj.2_Silent_p.T419T|MTSS1_uc003yrk.2_Silent_p.T444T	NM_014751	NP_055566	O43312	MTSS1_HUMAN	Homo sapiens metastasis suppressor 1 (MTSS1), mRNA.	444					actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GGCCGCTGGCGGTAGTGGGTC	0.627													A	125568545	G	A	125568545	2	1	177	1	0	0	0	0	0	0	0	1	10038	1103	39	1		1	MTSS1	8	125568545	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	54900805	125568545	20795477	44	12315											
CEL	1056	broad.mit.edu	37	chr9	135946656	135946656	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgcccacgggtgactccggGgccccccccgtgccgcccac	3	3	12	23	5	0	1	0	1	0	0	1	1	1	1	9	3	1	0	9	3	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:135946656G>C	uc010naa.1	+	10	1792	c.1776G>C	c.(1774-1776)ggG>ggC	p.G592G		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	589	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GTGACTCCGGGGCCCCCCCCG	0.811													C	135946656	G	C	135946656	2	2	177	1	0	0	0	0	0	0	0	1	3239	1219	43	4		4	CEL	9	135946656	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		135946656	5266775	45	12316											
RPL7A	6130	broad.mit.edu	37	chr9	136217156	136217156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtggtgattgcacaCgacgtggatcccatcgaggt	8	9	14	10	3	0	1	0	1	0	0	2	4	1	2	1	4	2	2	1	4	0	1	rs142456845	by1000genomes	TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr9:136217156C>T	uc004cde.1	+	4	507	c.477C>T	c.(475-477)caC>caT	p.H159H	MED22_uc004cdc.3_5'Flank|MED22_uc004cdd.3_5'Flank|SNORD36A_uc010naj.3_5'Flank|RPL7A_uc022boy.1_5'Flank|SNORD36C_uc010nak.3_5'Flank	NM_000972	NP_000963	P62424	RL7A_HUMAN	Homo sapiens ribosomal protein L7a (RPL7A), mRNA.	159					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522													T	136217156	C	T	136217156	2	4	177	1	0	0	0	0	0	0	0	1	13691	535	19	1		1	RPL7A	9	136217156	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	270500	136217156	4996275	46	12317											
SVIL	6840	broad.mit.edu	37	chr10	29751331	29751331	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcttgagattttttcCtgtagttacacagattgcaa	9	18	8	6	0	1	2	0	1	1	2	2	3	2	2	1	1	2	4	1	1	3	8			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr10:29751331C>T	uc001iut.1	-	36	7031	c.6278_splice	c.e36-1	p.G2093_splice	LOC387647_uc001iup.3_Intron|LOC387647_uc001iuq.1_Intron|SVIL_uc010qdw.1_Splice_Site_p.G1007_splice|SVIL_uc001iuu.1_Splice_Site_p.G1667_splice	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	2093					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				AGATTTTTTCCTGTAGTTACA	0.468													T	29751331	C	T	29751331	5	4	177	1	0	0	0	0	0	0	1	0	15517	695	24	2	379	2	SVIL	10	29751331	Splice_Site	SNP	C	TCGA-26-5135-01A-01D-1486-08		29751331	105783416	47	12318											
MUC5B	727897	broad.mit.edu	37	chr11	1250506	1250506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggaccactgtgtggaCggctgcttctgccccccagg	5	8	14	14	2	1	0	0	0	1	0	1	3	1	2	4	4	3	2	4	4	0	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr11:1250506C>T	uc001lta.3	+	8	1142	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	MUC5B_uc021qbr.1_Intron|MUC5B_uc009yct.2_Silent_p.D361D	NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	361	TIL 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTGTGTGGACGGCTGCTTCT	0.682													T	1250506	C	T	1250506	2	4	177	1	0	0	0	0	0	0	0	1	10055	535	19	1		1	MUC5B	11	1250506	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		1250506	133756010	48	12319											
GAPDH	2597	broad.mit.edu	37	chr12	6647098	6647098	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcaacagcgacacccacTcctccacctttgacgctggg	9	8	7	17	2	1	1	1	1	0	0	3	2	3	1	4	1	2	1	4	1	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:6647098T>G	uc001qop.1	+	7	976	c.874T>G	c.(874-876)Tcc>Gcc	p.S292A		NM_002046	NP_002037	P04406	G3P_HUMAN	Homo sapiens glyceraldehyde-3-phosphate dehydrogenase (GAPDH), mRNA.	292					gluconeogenesis|glycolysis|neuron apoptosis|peptidyl-cysteine S-trans-nitrosylation|protein stabilization	cytosol|membrane|nucleus|perinuclear region of cytoplasm	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|peptidyl-cysteine S-nitrosylase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|lung(4)	7					NADH(DB00157)	CGACACCCACTCCTCCACCTT	0.582											OREG0021628	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	6647098	T	G	6647098	3	3	177	1	0	0	0	0	1	0	0	0	6290	1551	54	5	900	5	GAPDH	12	6647098	Missense_Mutation	SNP	T	TCGA-26-5135-01A-01D-1486-08		6647098	127204797	49	12320											
ATF7IP	55729	broad.mit.edu	37	chr12	14650695	14650695	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcagaagccacacttgaaGttagcacgcgttcagagtca	12	8	9	12	2	3	3	3	1	0	2	3	3	3	3	2	0	2	3	2	0	3	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:14650695G>A	uc001rbw.3	+	14	3659	c.3501G>A	c.(3499-3501)aaG>aaA	p.K1167K	ATF7IP_uc001rbx.3_Silent_p.K1166K|ATF7IP_uc001rby.4_Silent_p.K1167K|ATF7IP_uc001rca.3_Silent_p.K1167K	NM_018179	NP_060649	Q6VMQ6	MCAF1_HUMAN	Homo sapiens activating transcription factor 7 interacting protein (ATF7IP), mRNA.	1167	Fibronectin type-III.|Interaction with MBD1.				DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CACACTTGAAGTTAGCACGCG	0.547													A	14650695	G	A	14650695	2	1	177	1	0	0	0	0	0	0	0	1	1092	1020	36	2		2	ATF7IP	12	14650695	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	8003597	14650695	119201200	50	12321											
PDE3A	5139	broad.mit.edu	37	chr12	20769164	20769164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcaagtctctttcctagCgcctgagaaggagtttgcct	9	12	10	10	1	2	1	1	1	1	1	4	3	3	2	3	1	2	1	3	1	4	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:20769164C>T	uc001reh.2	+	4	1310	c.1270_splice	c.e4-1	p.R424_splice	PDE3A_uc021qwa.1_Splice_Site_p.R102_splice	NM_000921	NP_000912	Q14432	PDE3A_HUMAN	Homo sapiens phosphodiesterase 3A, cGMP-inhibited (PDE3A), transcript variant 1, mRNA.	424					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	TCTTTCCTAGCGCCTGAGAAG	0.428													T	20769164	C	T	20769164	3	4	177	1	0	0	0	0	1	0	0	0	11713	782	27	1	1284	1	PDE3A	12	20769164	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	6118469	20769164	113082731	51	12322											
SOAT2	8435	broad.mit.edu	37	chr12	53512677	53512677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattgccgctgcaggacGccctatgtcaggtggaatta	8	9	11	13	2	1	0	1	0	0	0	1	2	1	2	4	3	2	2	4	3	3	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr12:53512677G>A	uc001sbv.3	+	8	955	c.867G>A	c.(865-867)acG>acA	p.T289T	SOAT2_uc009zms.3_Intron	NM_003578	NP_003569	O75908	SOAT2_HUMAN	Homo sapiens sterol O-acyltransferase 2 (SOAT2), mRNA.	289					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding	p.T289T(2)		endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GCTGCAGGACGCCCTATGTCA	0.532													A	53512677	G	A	53512677	2	1	177	1	0	0	0	0	0	0	0	1	15005	1074	38	1		1	SOAT2	12	53512677	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	32743513	53512677	80339218	52	12323											
EFNB2	1948	broad.mit.edu	37	chr13	107187289	107187289	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccccagcagtacttccaCacggagtcccttctcacagc	10	7	6	18	1	1	0	1	0	1	0	4	1	3	1	4	1	3	2	4	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr13:107187289C>A	uc001vqi.3	-	0	100	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_004093	NP_004084	P52799	EFNB2_HUMAN	Homo sapiens ephrin-B2 (EFNB2), mRNA.	8					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AGTACTTCCACACGGAGTCCC	0.542													A	107187289	C	A	107187289	2	1	177	1	0	0	0	0	0	0	0	1	4995	465	17	4		4	EFNB2	13	107187289	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		107187289	7982589	53	12324											
CTSG	1511	broad.mit.edu	37	chr14	25043934	25043934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgattatattgagggtggcGgatggctctgcgcgcagtga	7	11	16	7	3	1	3	0	3	1	0	1	4	1	4	0	4	1	2	0	4	2	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:25043934G>T	uc001wpq.3	-	2	323	c.286C>A	c.(286-288)Cgc>Agc	p.R96S		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	96	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.R96H(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TGAGGGTGGCGGATGGCTCTG	0.532													T	25043934	G	T	25043934	3	4	177	1	0	0	0	0	1	0	0	0	4068	1116	39	4	493	4	CTSG	14	25043934	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08		25043934	82305606	54	12325											
LRFN5	145581	broad.mit.edu	37	chr14	42356801	42356801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggatttctcctgaaGggaagcttatttcaaatgca	11	14	8	8	0	3	1	2	1	1	0	4	3	3	3	1	2	2	2	1	2	4	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:42356801G>T	uc001wvm.3	+	2	2171	c.973G>T	c.(973-975)Ggg>Tgg	p.G325W	LRFN5_uc010ana.3_Missense_Mutation_p.G325W	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	325	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTCTCCTGAAGGGAAGCTTAT	0.453										HNSCC(30;0.082)			T	42356801	G	T	42356801	3	4	177	1	0	0	0	0	1	0	0	0	9011	1000	35	4	975	4	LRFN5	14	42356801	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	17312867	42356801	64992739	55	12326											
FOXN3	1112	broad.mit.edu	37	chr14	89647054	89647054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccacttacctcatggccGctgtcaccccaatgggagtg	7	9	9	16	1	2	0	2	0	0	0	3	1	3	1	6	2	1	1	6	2	2	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr14:89647054G>A	uc001xxo.4	-	5	1045	c.908C>T	c.(907-909)gCg>gTg	p.A303V	FOXN3_uc001xxn.4_Missense_Mutation_p.A281V|FOXN3_uc010atk.3_Missense_Mutation_p.A281V	NM_001085471	NP_001078940	O00409	FOXN3_HUMAN	Homo sapiens forkhead box N3 (FOXN3), transcript variant 1, mRNA.	303					DNA damage checkpoint|embryo development|G2 phase of mitotic cell cycle|negative regulation of transcription, DNA-dependent|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein C-terminus binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTCATGGCCGCTGTCACCCC	0.637													A	89647054	G	A	89647054	3	1	177	1	0	0	0	0	1	0	0	0	6072	1087	38	1	572	1	FOXN3	14	89647054	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	47290253	89647054	17702486	56	12327											
BAHD1	22893	broad.mit.edu	37	chr15	40758215	40758215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcccccctctgcagaCtattccaccccaccccaccg	6	8	5	22	1	1	1	0	0	1	1	3	1	3	1	9	1	1	2	9	1	1	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:40758215C>T	uc001zlu.2	+	6	2300	c.2229C>T	c.(2227-2229)gaC>gaT	p.D743D	BAHD1_uc001zlt.2_Silent_p.D742D|BAHD1_uc010bbp.1_Silent_p.D739D|BAHD1_uc001zlv.2_Silent_p.D740D	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	743	BAH.				heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		CCTCTGCAGACTATTCCACCC	0.602													T	40758215	C	T	40758215	2	4	177	1	0	0	0	0	0	0	0	1	1302	564	20	2		2	BAHD1	15	40758215	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		40758215	61773177	57	12328											
TARSL2	123283	broad.mit.edu	37	chr15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtttccatttccggattgCcctcccaatatgttgaggaa	9	14	8	10	1	0	1	0	1	0	0	3	3	3	3	4	2	1	2	4	2	3	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr15:102242566C>T	uc002bxm.3	-	8	1152	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	366					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353													T	102242566	C	T	102242566	3	4	177	1	0	0	0	0	1	0	0	0	15658	739	26	2	1355	2	TARSL2	15	102242566	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	61484351	102242566	288826	58	12329											
IL32	9235	broad.mit.edu	37	chr16	3119233	3119233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggccctctggaaacagttCcagagtttctgctgctctct	7	12	9	13	0	3	1	0	0	3	1	5	2	4	2	2	2	3	4	2	2	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:3119233C>T	uc002ctq.3	+	5	677	c.582C>T	c.(580-582)ttC>ttT	p.F194F	IL32_uc002ctn.3_Silent_p.F148F|IL32_uc002ctk.3_Intron|IL32_uc002cto.3_Silent_p.F194F|IL32_uc010uwp.2_Silent_p.F128F|IL32_uc010btb.3_Silent_p.F138F|IL32_uc002ctl.3_Silent_p.F148F|IL32_uc002ctm.3_Silent_p.F148F|IL32_uc002ctp.3_Silent_p.F128F|IL32_uc002ctr.3_Silent_p.F128F|IL32_uc002ctt.3_Silent_p.F148F|IL32_uc010uwr.2_Silent_p.F108F|IL32_uc002ctu.3_Silent_p.F139F|IL32_uc021tbc.1_Intron	NM_004221	NP_004212	P24001	IL32_HUMAN	Homo sapiens interleukin 32 (IL32), transcript variant 2, mRNA.	194					cell adhesion|defense response|immune response	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	15						GGAAACAGTTCCAGAGTTTCT	0.612													T	3119233	C	T	3119233	2	4	177	1	0	0	0	0	0	0	0	1	7750	854	30	2		2	IL32	16	3119233	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08		3119233	87235520	59	12330											
ITGAM	3684	broad.mit.edu	37	chr16	31309135	31309135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggccgctttggggcaGccctaacagtgctgggggac	5	7	17	12	1	0	0	0	0	0	0	0	1	0	1	3	6	3	3	3	6	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:31309135G>T	uc002ebr.3	+	13	1668	c.1570G>T	c.(1570-1572)Gcc>Tcc	p.A524S	ITGAM_uc002ebq.3_Missense_Mutation_p.A523S|ITGAM_uc010cam.1_Intron|ITGAM_uc010can.3_Intron	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	523					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CTTTGGGGCAGCCCTAACAGT	0.607													T	31309135	G	T	31309135	3	4	177	1	0	0	0	0	1	0	0	0	7945	971	34	4	1624	4	ITGAM	16	31309135	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	28189902	31309135	59045618	60	12331											
CHST5	23563	broad.mit.edu	37	chr16	75564025	75564025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaggtagaagacgtcGgggtgctggctgaagagctg	9	8	16	8	2	1	4	1	1	0	3	3	4	2	4	1	4	2	4	1	4	3	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr16:75564025G>A	uc002fej.1	-	4	597	c.276C>T	c.(274-276)ccC>ccT	p.P92P	CHST5_uc002fei.3_Silent_p.P86P|CHST5_uc021tlk.1_Silent_p.P86P	NM_024533	NP_078809	Q9GZS9	CHST5_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 5 (CHST5), mRNA.	86					N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)	24						AGAAGACGTCGGGGTGCTGGC	0.677													A	75564025	G	A	75564025	2	1	177	1	0	0	0	0	0	0	0	1	3437	1103	39	1		1	CHST5	16	75564025	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	44254890	75564025	14790728	61	12332											
SUPT6H	6830	broad.mit.edu	37	chr17	27010834	27010834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggaatatgtcataaaGgtgaggacagagactcatga	16	7	12	6	0	2	3	2	2	0	1	2	6	2	5	1	3	0	0	1	3	5	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr17:27010834G>A	uc010crt.3	+	18	2421	c.2229_splice	c.e18+1	p.K743_splice	SUPT6H_uc002hby.3_Splice_Site_p.K743_splice	NM_003170	NP_003161	Q7KZ85	SPT6H_HUMAN	Homo sapiens suppressor of Ty 6 homolog (S. cerevisiae) (SUPT6H), mRNA.	743					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ATGTCATAAAGGTGAGGACAG	0.478													A	27010834	G	A	27010834	2	1	177	1	0	0	0	0	0	0	0	1	15496	1014	35	2		2	SUPT6H	17	27010834	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08		27010834	54184376	62	12333											
DSG4	147409	broad.mit.edu	37	chr18	28968937	28968937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgataacgctccagtcttttCgcaaagtgtatacacagcca	12	11	7	11	2	1	1	0	1	1	0	3	1	2	1	2	0	3	3	2	0	4	5			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr18:28968937C>T	uc002kwr.2	+	4	608	c.473C>T	c.(472-474)tCg>tTg	p.S158L	DSG4_uc002kwq.2_Missense_Mutation_p.S158L	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	158	Cadherin 2.		Missing (in LAH1).		homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding	p.S158L(2)		NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCAGTCTTTTCGCAAAGTGTA	0.413													T	28968937	C	T	28968937	3	4	177	1	0	0	0	0	1	0	0	0	4818	893	31	1	491	1	DSG4	18	28968937	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08		28968937	49108311	63	12334											
ZNF57	126295	broad.mit.edu	37	chr19	2918067	2918067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtgtaaacaatgtggaaAaaccttcacttggtcctcaa	14	11	8	8	0	2	1	2	1	0	0	3	2	3	2	2	2	2	1	2	2	6	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:2918067A>G	uc002lwr.3	+	3	1596	c.1448A>G	c.(1447-1449)aAa>aGa	p.K483R	ZNF57_uc010xha.2_Missense_Mutation_p.K451R	NM_173480	NP_775751	Q68EA5	ZNF57_HUMAN	Homo sapiens zinc finger protein 57 (ZNF57), mRNA.	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		CAATGTGGAAAAACCTTCACT	0.448													G	2918067	A	G	2918067	3	3	177	1	0	0	0	0	1	0	0	0	18102	14	1	3	1462	3	ZNF57	19	2918067	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08		2918067	56210916	64	12335											
MUC16	94025	broad.mit.edu	37	chr19	9062081	9062081	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatggatgttcccctagaGgatatcacttctgtcctgga	9	12	10	10	0	2	1	1	0	1	1	4	5	4	4	3	3	0	1	3	3	2	4			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9062081G>C	uc002mkp.3	-	2	25569	c.25365C>G	c.(25363-25365)tcC>tcG	p.S8455S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	8457	Ser-rich.|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						TTCCCCTAGAGGATATCACTT	0.522													C	9062081	G	C	9062081	2	2	177	1	0	0	0	0	0	0	0	1	10049	987	35	4		4	MUC16	19	9062081	Silent	SNP	G	TCGA-26-5135-01A-01D-1486-08	6144014	9062081	50066902	65	12336											
FBXL12	54850	broad.mit.edu	37	chr19	9921682	9921682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccctcccaccccagccCctgcagctcaaggactctga	8	6	7	20	0	2	2	1	2	1	0	3	3	3	3	6	1	3	2	6	1	1	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:9921682C>T	uc002mme.3	-	2	1113	c.871G>A	c.(871-873)Ggg>Agg	p.G291R	FBXL12_uc002mmd.3_Missense_Mutation_p.G238R|FBXL12_uc002mmf.3_Missense_Mutation_p.G238R|FBXL12_uc002mmg.3_Missense_Mutation_p.G238R	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	291							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACCCCAGCCCCTGCAGCTCA	0.612													T	9921682	C	T	9921682	3	4	177	1	0	0	0	0	1	0	0	0	5757	623	22	2	113	2	FBXL12	19	9921682	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	859601	9921682	49207301	66	12337											
JAK3	3718	broad.mit.edu	37	chr19	17945947	17945947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcagcttgatgaagggCgggctcccatcagccccctc	7	8	10	16	1	3	2	3	2	0	0	5	2	4	2	3	2	2	2	3	2	1	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:17945947C>T	uc002nhn.4	-	14	2092	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Silent_p.P664P	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	664	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGATGAAGGGCGGGCTCCCAT	0.637		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								T	17945947	C	T	17945947	2	4	177	1	0	0	0	0	0	0	0	1	7997	755	27	1		1	JAK3	19	17945947	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	8024265	17945947	41183036	67	12338											
CD22	933	broad.mit.edu	37	chr19	35837570	35837570	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcggcctcaggcacaagaAaatgtggactatgtgatcct	12	8	12	9	1	1	2	1	1	0	1	2	4	2	3	2	3	1	1	2	3	4	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:35837570A>C	uc010edt.3	+	13	2598	c.2514A>C	c.(2512-2514)gaA>gaC	p.E838D	CD22_uc010edu.3_Missense_Mutation_p.E750D|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.E661D|CD22_uc010xst.2_Missense_Mutation_p.E666D|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	838					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	AGGCACAAGAAAATGTGGACT	0.552													C	35837570	A	C	35837570	3	2	177	1	0	0	0	0	1	0	0	0	3015	11	1	5	2564	5	CD22	19	35837570	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	17891623	35837570	23291413	68	12339											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572329	38572329	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttgggattctgggccCagaatggcagcatgtcccag	7	9	12	13	0	1	1	0	0	1	1	3	2	3	2	3	3	1	2	3	3	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:38572329C>T	uc002ohk.3	+	2	633	c.124C>T	c.(124-126)Cag>Tag	p.Q42*		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	42					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			ATTCTGGGCCCAGAATGGCAG	0.706													T	38572329	C	T	38572329	4	4	177	1	0	0	0	0	0	1	0	0	14425	595	21	2	126	2	SIPA1L3	19	38572329	Nonsense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	2734759	38572329	20556654	69	12340											
ZFP112	26974	broad.mit.edu	37	chr19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagtggacttgaagaaCggagcttgaactaaagcact	13	8	10	10	1	0	3	0	2	0	1	1	5	1	5	2	2	4	2	2	2	5	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:44891167C>T	uc010xxa.2	-	3	1304	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	ZFP112_uc010xwz.2_Intron|ZFP112_uc002ozd.4_Missense_Mutation_p.V414I	NM_152354	NP_689567	Q9UJU3	ZF112_HUMAN	Homo sapiens zinc finger protein 285 (ZNF285), mRNA.	707					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(1)|lung(8)|ovary(3)|prostate(4)|skin(3)	41						ACTTGAAGAACGGAGCTTGAA	0.488													T	44891167	C	T	44891167	3	4	177	1	0	0	0	0	1	0	0	0	17739	536	19	1		1	ZFP112	19	44891167	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	6318838	44891167	14237816	70	12341											
CKM	1158	broad.mit.edu	37	chr19	45821144	45821144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttgtagcccccgtggCgatccgagatgatggggtca	6	10	16	9	3	1	2	1	1	0	1	2	4	2	2	3	4	1	2	3	4	1	2			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:45821144C>T	uc002pbd.3	-	2	460	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_001824	NP_001815	P06732	KCRM_HUMAN	Homo sapiens creatine kinase, muscle (CKM), mRNA.	96	Phosphagen kinase N-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCCCCCGTGGCGATCCGAGAT	0.582													T	45821144	C	T	45821144	3	4	177	1	0	0	0	0	1	0	0	0	3479	768	27	1	882	1	CKM	19	45821144	Missense_Mutation	SNP	C	TCGA-26-5135-01A-01D-1486-08	929977	45821144	13307839	71	12342											
ZNF805	390980	broad.mit.edu	37	chr19	57765629	57765629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatccacactggagagaAgccctatgagtgcatggagt	12	7	12	10	0	0	2	0	1	0	1	1	5	1	4	2	2	3	2	2	2	2	1			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr19:57765629A>C	uc010ygt.2	+	3	1649	c.1442A>C	c.(1441-1443)aAg>aCg	p.K481T	ZNF805_uc010ygu.2_Missense_Mutation_p.K348T|ZNF805_uc021vcj.1_Missense_Mutation_p.K348T	NM_001023563	NP_001138550	Q5CZA5	ZN805_HUMAN	Homo sapiens zinc finger protein 805 (ZNF805), transcript variant 1, mRNA.	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						ACTGGAGAGAAGCCCTATGAG	0.527													C	57765629	A	C	57765629	3	2	177	1	0	0	0	0	1	0	0	0	18271	72	3	5	1456	5	ZNF805	19	57765629	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08	11944485	57765629	1363354	72	12343											
GGTLC1	92086	broad.mit.edu	37	chr20	23967182	23967182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcgggcttgtagtaggAgatcgggtgagtggtgtcgt	7	11	18	5	3	0	2	0	1	0	1	3	4	0	2	0	4	1	3	0	4	3	3			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:23967182A>G	uc002wts.3	-	1	200	c.67T>C	c.(67-69)Tcc>Ccc	p.S23P	GGTLC1_uc002wtu.3_Missense_Mutation_p.S23P|DQ583395_uc021wbk.1_5'Flank	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	23							gamma-glutamyltransferase activity	p.S23Y(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						TTGTAGTAGGAGATCGGGTGA	0.632													G	23967182	A	G	23967182	3	3	177	1	0	0	0	0	1	0	0	0	6421	304	11	3	630	3	GGTLC1	20	23967182	Missense_Mutation	SNP	A	TCGA-26-5135-01A-01D-1486-08		23967182	39058338	73	12344											
MATN4	8785	broad.mit.edu	37	chr20	43922452	43922452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatcctccaggcgcgcCgtcagctgggccagtgagcg	6	6	14	15	4	1	2	1	1	0	1	4	2	4	2	5	2	2	1	5	2	0	0			TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:43922452C>T	uc002xnn.2	-	9	1888	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	MATN4_uc002xnp.2_Silent_p.T485T|MATN4_uc002xno.2_Silent_p.T526T	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	608						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CCAGGCGCGCCGTCAGCTGGG	0.687													T	43922452	C	T	43922452	2	4	177	1	0	0	0	0	0	0	0	1	9411	639	23	1		1	MATN4	20	43922452	Silent	SNP	C	TCGA-26-5135-01A-01D-1486-08	19955270	43922452	19103068	74	12345											
FAM65C	140876	broad.mit.edu	37	chr20	49232571	49232571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggtgtctttgtggcGtccagacaggtggtccagct	4	12	13	12	1	1	1	0	0	1	1	4	1	4	1	4	4	1	1	4	4	0	1	rs147229572		TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:49232571G>A	uc010zyt.2	-	3	567	c.316C>T	c.(316-318)Cgc>Tgc	p.R106C	FAM65C_uc010zyu.1_Non-coding_Transcript|FAM65C_uc002xvm.3_Missense_Mutation_p.R102C|FAM65C_uc002xvn.1_Missense_Mutation_p.R102C	NM_080829	NP_543019	Q96MK2	FA65C_HUMAN	Homo sapiens family with sequence similarity 65, member C (FAM65C), mRNA.	102								p.R102C(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTTTGTGGCGTCCAGACAGG	0.542													A	49232571	G	A	49232571	3	1	177	1	0	0	0	0	1	0	0	0	5651	1145	40	1	2612	1	FAM65C	20	49232571	Missense_Mutation	SNP	G	TCGA-26-5135-01A-01D-1486-08	5310119	49232571	13792949	75	12346											
TAF4	6874	broad.mit.edu	37	chr20	60572701	60572706	+	In_Frame_Del	DEL	TTTGTG	TTTGTG	-																															gttggcgtcccgctgtctcaTttgtgccagttcctgttgct																										TCGA-26-5135-01A-01D-1486-08	TCGA-26-5135-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ce48f01-2f61-49d9-a56a-7438bf4a37d7	8f36ad24-c425-4474-9d03-a5198e2e4901	g.chr20:60572701_60572706delTTTGTG	uc002ybs.3	-	13	2990_2995	c.2990_2995delCACAAA	c.(2989-2997)gcacaaatg>gtg	p.997_999AQM>V		NM_003185	NP_003176	O00268	TAF4_HUMAN	Homo sapiens TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa (TAF4), mRNA.	997					interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.M999V(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CGCTGTCTCATTTGTGCCAGTTCCTG	0.471													-	60572706	TTTGTG	-	60572701	7	5	177	1	0	1	0	1	0	0	0	0	15623	1493	52	0	270	0	TAF4	20	60572701	In_Frame_Del	DEL	TTTGTG	TCGA-26-5135-01A-01D-1486-08	11340130	60572701	2452819	76	12347											
PIK3CD	5293	broad.mit.edu	37	chr1	9780231	9780231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaaccccaacacggatagCgccgctgccctgctcatctg	9	7	9	16	3	2	0	1	0	1	0	2	1	2	1	4	1	5	3	4	1	3	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:9780231C>T	uc001aqe.4	+	9	1504	c.1296C>T	c.(1294-1296)agC>agT	p.S432S	PIK3CD_uc001aqb.4_Silent_p.S467S|PIK3CD_uc010oaf.2_Silent_p.S467S|PIK3CD_uc021ogb.1_Silent_p.S251S	NM_005026	NP_005017	O00329	PK3CD_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, delta polypeptide (PIK3CD), mRNA.	467					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		ACACGGATAGCGCCGCTGCCC	0.662													T	9780231	C	T	9780231	2	4	178	1	0	0	0	0	0	0	0	1	11992	767	27	1		1	PIK3CD	1	9780231	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		9780231	239470390	1	12348											
MUL1	79594	broad.mit.edu	37	chr1	20828674	20828674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgtttctttaacagaccGcacagctcctaagtggacac	12	9	8	12	2	1	1	0	0	1	1	2	2	2	2	2	1	3	3	2	1	3	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:20828674G>A	uc001bdi.4	-	2	374	c.217C>T	c.(217-219)Cgg>Tgg	p.R73W		NM_024544	NP_078820	Q969V5	MUL1_HUMAN	Homo sapiens mitochondrial E3 ubiquitin protein ligase 1 (MUL1), nuclear gene encoding mitochondrial protein, mRNA.	73					activation of caspase activity|activation of JUN kinase activity|induction of apoptosis|mitochondrial fission|mitochondrion localization|negative regulation of cell growth|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to mitochondrial outer membrane|nucleus|peroxisome	identical protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(5)	11		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00748)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000137)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00124)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		TTAACAGACCGCACAGCTCCT	0.433													A	20828674	G	A	20828674	3	1	178	1	0	0	0	0	1	0	0	0	10060	1086	38	1	849	1	MUL1	1	20828674	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	11048443	20828674	228421947	2	12349											
ZNF644	84146	broad.mit.edu	37	chr1	91404393	91404393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattaagtttttgcaaaaCgacaacagtcattttatgca	16	13	6	6	1	1	1	1	0	0	1	1	2	1	1	0	0	4	3	0	0	6	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:91404393C>T	uc001dnw.3	-	2	2801	c.2518G>A	c.(2518-2520)Gtt>Att	p.V840I	ZNF644_uc001dnv.3_Intron|ZNF644_uc001dnx.3_Intron|ZNF644_uc001dny.2_Missense_Mutation_p.V840I	NM_201269	NP_958357	Q9H582	ZN644_HUMAN	Homo sapiens zinc finger protein 644 (ZNF644), transcript variant 1, mRNA.	840					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TTTTGCAAAACGACAACAGTC	0.363													T	91404393	C	T	91404393	3	4	178	1	0	0	0	0	1	0	0	0	18161	536	19	1	1481	1	ZNF644	1	91404393	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	70575719	91404393	157846228	3	12350											
AMPD1	270	broad.mit.edu	37	chr1	115220069	115220069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccactcatcaggactgcGgccatagatggacaggcggg	9	6	14	12	2	2	1	2	0	0	1	3	3	3	3	2	5	1	1	2	5	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:115220069G>A	uc001efe.2	-	9	1438	c.1390C>T	c.(1390-1392)Cgc>Tgc	p.R464C	AMPD1_uc001eff.2_Missense_Mutation_p.R460C	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	431					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TCAGGACTGCGGCCATAGATG	0.567													A	115220069	G	A	115220069	3	1	178	1	0	0	0	0	1	0	0	0	585	1116	39	1	980	1	AMPD1	1	115220069	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	23815676	115220069	134030552	4	12351											
PPIAL4G	644591	broad.mit.edu	37	chr1	143767630	143767630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatagatggacttgtcaccGgtgccattagggtgtgtgaa	9	11	13	8	1	1	2	1	1	0	1	1	3	1	3	3	3	1	0	3	3	3	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:143767630G>A	uc001ejt.3	-	0	252	c.219C>T	c.(217-219)acC>acT	p.T73T		NM_001123068	NP_001116540	A2BFH1	PAL4G_HUMAN	Homo sapiens peptidylprolyl isomerase A (cyclophilin A)-like 4G (PPIAL4G), mRNA.	73	PPIase cyclophilin-type.				protein folding	cytoplasm	peptidyl-prolyl cis-trans isomerase activity	p.T73T(2)		breast(1)|endometrium(2)|kidney(1)|lung(8)|ovary(1)|skin(1)	14						ACTTGTCACCGGTGCCATTAG	0.468													A	143767630	G	A	143767630	2	1	178	1	0	0	0	0	0	0	0	1	12400	1103	39	1		1	PPIAL4G	1	143767630	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	28547561	143767630	105482991	5	12352											
PEAR1	375033	broad.mit.edu	37	chr1	156879622	156879622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgccagctgccagtgtgcCcatgaggcagtctgcagccc	8	7	12	14	0	1	1	0	1	1	0	1	1	1	1	4	1	6	3	4	1	1	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:156879622C>T	uc001fqj.1	+	11	1607	c.1491C>T	c.(1489-1491)gcC>gcT	p.A497A	PEAR1_uc001fqk.1_Silent_p.A122A	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	497	EGF-like 6.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GCCAGTGTGCCCATGAGGCAG	0.662													T	156879622	C	T	156879622	2	4	178	1	0	0	0	0	0	0	0	1	11788	610	22	2		2	PEAR1	1	156879622	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	13111992	156879622	92370999	6	12353											
PVRL4	81607	broad.mit.edu	37	chr1	161049529	161049529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggcggctgctccacgCggccctcgtaagccgggctc	3	5	17	16	6	0	0	0	0	0	0	3	0	1	0	3	6	2	4	3	6	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:161049529C>T	uc001fxo.2	-	1	589	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_030916	NP_112178	Q96NY8	PVRL4_HUMAN	Homo sapiens poliovirus receptor-related 4 (PVRL4), mRNA.	97	Ig-like V-type 1.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCTCCACGCGGCCCTCGTA	0.687													T	161049529	C	T	161049529	3	4	178	1	0	0	0	0	1	0	0	0	12930	768	27	1	1274	1	PVRL4	1	161049529	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	4169907	161049529	88201092	7	12354											
SIPA1L2	57568	broad.mit.edu	37	chr1	232561420	232561420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgctgaacagaatgtcGttgggcagggcctggtcaag	8	9	17	7	1	1	2	1	1	0	1	2	2	1	2	1	4	2	3	1	4	3	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232561420G>A	uc001hvg.3	-	15	4703	c.4545C>T	c.(4543-4545)aaC>aaT	p.N1515N	SIPA1L2_uc001hvf.3_Silent_p.N589N	NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	1515					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				ACAGAATGTCGTTGGGCAGGG	0.642													A	232561420	G	A	232561420	2	1	178	1	0	0	0	0	0	0	0	1	14424	1136	40	1		1	SIPA1L2	1	232561420	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	71511891	232561420	16689201	8	12355											
SIPA1L2	57568	broad.mit.edu	37	chr1	232626679	232626679	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgagttggaagcctgtcGcaaacactgaatgctcagct	10	9	13	9	1	1	2	1	2	0	0	2	3	1	3	1	2	4	4	1	2	3	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:232626679G>A	uc001hvg.3	-	2	1905	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	583					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGCCTGTCGCAAACACTGA	0.463													A	232626679	G	A	232626679	4	1	178	1	0	0	0	0	0	1	0	0	14424	1095	38	1	3497	1	SIPA1L2	1	232626679	Nonsense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	65259	232626679	16623942	9	12356											
OR2T6	254879	broad.mit.edu	37	chr1	248551010	248551010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggtgtcatttgtgccgTcttcttcatggccatgatag	5	17	10	9	2	4	1	2	1	2	0	5	1	4	1	2	2	1	0	2	2	1	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr1:248551010T>C	uc001iei.1	+	0	101	c.101T>C	c.(100-102)gTc>gCc	p.V34A		NM_001005471	NP_001005471	Q8NHC8	OR2T6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 6 (OR2T6), mRNA.	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V34A(2)		endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATTTGTGCCGTCTTCTTCATG	0.463													C	248551010	T	C	248551010	3	2	178	1	0	0	0	0	1	0	0	0	11105	1667	58	3	103	3	OR2T6	1	248551010	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	15924331	248551010	699611	10	12357											
MYCN	4613	broad.mit.edu	37	chr2	16082359	16082359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtttgagctgctgcccaCgcccccgctgtcgcccagcc	5	7	11	18	3	0	1	0	1	0	0	1	2	0	1	5	0	4	4	5	0	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:16082359C>T	uc002rci.3	+	1	473	c.173C>T	c.(172-174)aCg>aTg	p.T58M	MYCNOS_uc002rch.1_5'Flank|MYCN_uc010yjr.2_Missense_Mutation_p.T58M	NM_005378	NP_005369	P04198	MYCN_HUMAN	Homo sapiens v-myc myelocytomatosis viral related oncogene, neuroblastoma derived (avian) (MYCN), mRNA.	58					regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			CTGCTGCCCACGCCCCCGCTG	0.677			A		neuroblastoma								T	16082359	C	T	16082359	3	4	178	1	0	0	0	0	1	0	0	0	10097	536	19	1	175	1	MYCN	2	16082359	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		16082359	227117014	11	12358											
SCN9A	6335	broad.mit.edu	37	chr2	167141183	167141183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacaaacagtgagcccCttctgctctcattgtctcca	8	10	9	14	0	3	1	1	1	3	0	5	1	3	1	3	2	3	2	3	2	1	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:167141183C>G	uc010fpl.3	-	11	2095	c.1754G>C	c.(1753-1755)aGg>aCg	p.R585T	BC051759_uc002udp.3_Intron|SCN9A_uc002udr.1_Missense_Mutation_p.R456T|SCN9A_uc002uds.1_Missense_Mutation_p.R456T|SCN9A_uc002udt.1_Missense_Mutation_p.R456T	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	585						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CAGTGAGCCCCTTCTGCTCTC	0.502													G	167141183	C	G	167141183	3	3	178	1	0	0	0	0	1	0	0	0	14018	681	24	4	4243	4	SCN9A	2	167141183	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	151058824	167141183	76058190	12	12359											
COL6A3	1293	broad.mit.edu	37	chr2	238270475	238270475	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcggcaatgttgtcCtaccgaaaggaagagaaacc	12	9	10	10	2	1	1	0	0	1	1	3	4	2	2	3	2	2	3	3	2	5	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr2:238270475C>G	uc002vwl.2	-	15	6349	c.6064_splice	c.e15-1	p.D2022_splice	COL6A3_uc002vwo.2_Splice_Site_p.D1816_splice|COL6A3_uc010znj.1_Splice_Site_p.D1415_splice	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	2022	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CAATGTTGTCCTACCGAAAGG	0.527													G	238270475	C	G	238270475	5	3	178	1	0	0	0	0	0	0	1	0	3732	695	24	4	3590	4	COL6A3	2	238270475	Splice_Site	SNP	C	TCGA-26-5136-01B-01D-1486-08	71129292	238270475	4928898	13	12360											
OXSM	54995	broad.mit.edu	37	chr3	25832620	25832620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttttcggaactgtgccaAtatccagattgcataggcga	11	12	10	8	2	0	1	0	0	0	1	2	3	1	2	2	2	3	2	2	2	4	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:25832620A>G	uc003cdn.3	+	1	216	c.109A>G	c.(109-111)Ata>Gta	p.I37V	NGLY1_uc011awo.2_5'Flank|OXSM_uc010hfh.3_Missense_Mutation_p.I37V|OXSM_uc011awp.2_5'UTR	NM_017897	NP_060367	Q9NWU1	OXSM_HUMAN	Homo sapiens 3-oxoacyl-ACP synthase, mitochondrial (OXSM), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	37					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AACTGTGCCAATATCCAGATT	0.428													G	25832620	A	G	25832620	3	3	178	1	0	0	0	0	1	0	0	0	11411	101	4	3	111	3	OXSM	3	25832620	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08		25832620	172189810	14	12361											
PIK3CA	5290	broad.mit.edu	37	chr3	178916882	178916882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaaacaagacgactttGtgaccttcggctttttcaac	11	13	8	9	2	1	4	1	3	0	1	2	5	1	4	1	1	2	1	1	1	3	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr3:178916882G>A	uc003fjk.3	+	1	426	c.269G>A	c.(268-270)tGt>tAt	p.C90Y		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	90	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGACGACTTTGTGACCTTCGG	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916882	G	A	178916882	3	1	178	1	0	0	0	0	1	0	0	0	11990	1377	48	2	271	2	PIK3CA	3	178916882	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	153084262	178916882	19105548	15	12362											
UGT2B10	7365	broad.mit.edu	37	chr4	69696492	69696492	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactctttggatgtgattggGttcctgctggcttgtgtggc	3	16	14	8	0	1	1	0	1	1	0	2	2	2	2	1	4	1	3	1	4	0	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:69696492G>T	uc003hee.3	+	5	1507	c.1482G>T	c.(1480-1482)ggG>ggT	p.G494G	UGT2B10_uc011cam.2_Silent_p.G410G	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	494					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						ATGTGATTGGGTTCCTGCTGG	0.458													T	69696492	G	T	69696492	2	4	178	1	0	0	0	0	0	0	0	1	17058	1248	44	4		4	UGT2B10	4	69696492	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08		69696492	121457784	16	12363											
FAM13A	10144	broad.mit.edu	37	chr4	89941642	89941642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaatgaatcgaggctgcaaCgctgaggtgatcagactgtc	11	9	13	8	2	1	5	1	4	0	1	3	6	1	5	0	2	2	3	0	2	3	0	rs147082682	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr4:89941642C>T	uc003hse.1	-	2	604	c.396G>A	c.(394-396)gcG>gcA	p.A132A	FAM13A_uc003hsf.1_5'UTR|FAM13A_uc003hsh.1_5'UTR	NM_014883	NP_055698	O94988	FA13A_HUMAN	Homo sapiens family with sequence similarity 13, member A (FAM13A), transcript variant 1, mRNA.	132	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S131*(1)		NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						GAGGCTGCAACGCTGAGGTGA	0.512													T	89941642	C	T	89941642	2	4	178	1	0	0	0	0	0	0	0	1	5497	523	19	1		1	FAM13A	4	89941642	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	20245150	89941642	101212634	17	12364											
PTGER4	5734	broad.mit.edu	37	chr5	40681502	40681502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtggacaagcgattggCgggcctcacgctctttgcag	7	9	13	12	4	2	0	1	0	1	0	2	2	2	1	1	3	3	2	1	3	2	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr5:40681502C>T	uc003jlz.3	+	1	999	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	136					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity	p.A136A(1)		breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AAGCGATTGGCGGGCCTCACG	0.597											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40681502	C	T	40681502	3	4	178	1	0	0	0	0	1	0	0	0	12831	768	27	1	409	1	PTGER4	5	40681502	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		40681502	140233758	18	12365											
HSP90AB1	3326	broad.mit.edu	37	chr6	44217321	44217321	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattcatggaggctcttcagGtattgcagttctgtaggcat	8	14	11	8	0	4	0	2	0	2	0	4	1	4	1	0	4	1	6	0	4	2	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr6:44217321G>T	uc003oxa.1	+	3	438	c.354_splice	c.e3+1	p.Q118_splice	HSP90AB1_uc011dvr.1_Splice_Site_p.Q118_splice|HSP90AB1_uc003oxb.1_Splice_Site_p.Q118_splice|HSP90AB1_uc011dvs.1_Splice_Site|HSP90AB1_uc003oxc.1_5'Flank	NM_007355	NP_031381	P08238	HS90B_HUMAN	Homo sapiens heat shock protein 90kDa alpha (cytosolic), class B member 1 (HSP90AB1), mRNA.	118					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GGCTCTTCAGGTATTGCAGTT	0.403													T	44217321	G	T	44217321	5	4	178	1	0	0	0	0	0	0	1	0	7459	1275	44	4	361	4	HSP90AB1	6	44217321	Splice_Site	SNP	G	TCGA-26-5136-01B-01D-1486-08		44217321	126897746	19	12366											
RABGEF1	27342	broad.mit.edu	37	chr7	66262470	66262470	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatgatgagaagaaagaTcttgccattcaaaagagaat	18	9	9	5	0	2	6	1	3	1	4	2	8	2	6	1	0	1	0	1	0	5	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:66262470T>C	uc003tvf.3	+	9	1540	c.324T>C	c.(322-324)gaT>gaC	p.D108D	RABGEF1_uc003tvg.3_Silent_p.D43D|RABGEF1_uc003tvh.3_Silent_p.D235D|RABGEF1_uc010lag.3_Silent_p.D235D|RABGEF1_uc011kee.2_Silent_p.D249D|RABGEF1_uc003tvi.3_Silent_p.D69D	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	452					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding	p.A107A(1)|p.A107T(1)|p.S108F(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						AGAAGAAAGATCTTGCCATTC	0.358													C	66262470	T	C	66262470	2	2	178	1	0	0	0	0	0	0	0	1	13054	1432	50	3		3	RABGEF1	7	66262470	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08		66262470	92876193	20	12367											
TRIM50	135892	broad.mit.edu	37	chr7	72734159	72734159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacgacgattcgggtcCggttgttcaccagtttggcg	6	11	12	12	5	2	0	2	0	0	0	4	2	3	0	2	3	0	3	2	3	0	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:72734159C>T	uc003txy.1	-	2	683	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	FKBP6_uc003twz.2_Intron|TRIM50_uc010lbd.1_Missense_Mutation_p.R161Q|TRIM50_uc003txz.1_Missense_Mutation_p.R161Q	NM_178125	NP_835226	Q86XT4	TRI50_HUMAN	Homo sapiens tripartite motif containing 50 (TRIM50), mRNA.	161						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						GATTCGGGTCCGGTTGTTCAC	0.562													T	72734159	C	T	72734159	3	4	178	1	0	0	0	0	1	0	0	0	16627	652	23	1	1001	1	TRIM50	7	72734159	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	6471689	72734159	86404504	21	12368											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97922864	97922864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgccgagcgatcattcGtcacagtcgggcggagtttc	6	10	15	10	5	2	0	2	0	0	0	5	3	2	1	1	3	2	1	1	3	0	2	rs140138864		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:97922864G>A	uc003upj.3	-	13	1768	c.1505C>T	c.(1504-1506)aCg>aTg	p.T502M		NM_018842	NP_061330	Q9UHR4	BI2L1_HUMAN	Homo sapiens BAI1-associated protein 2-like 1 (BAIAP2L1), mRNA.	502	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GCGATCATTCGTCACAGTCGG	0.547													A	97922864	G	A	97922864	3	1	178	1	0	0	0	0	1	0	0	0	1307	1145	40	1	34	1	BAIAP2L1	7	97922864	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	25188705	97922864	61215799	22	12369											
RELN	5649	broad.mit.edu	37	chr7	103389896	103389896	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatttggatttaattgcagTtggtggtaggagtcaaagtc	11	15	12	3	0	1	0	1	0	0	0	2	2	1	2	0	4	1	3	0	4	4	7			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:103389896T>C	uc022ajr.1	-	5	793	c.633A>G	c.(631-633)caA>caG	p.Q211Q	RELN_uc022ajq.1_Silent_p.Q211Q|RELN_uc010liz.3_Silent_p.Q211Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	211					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTAATTGCAGTTGGTGGTAGG	0.353													C	103389896	T	C	103389896	2	2	178	1	0	0	0	0	0	0	0	1	13308	1722	60	3		3	RELN	7	103389896	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08	5467032	103389896	55748767	23	12370											
PARP12	64761	broad.mit.edu	37	chr7	139724367	139724367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcctgtgcgctcactgtCggctgctgaacagggagccc	6	8	12	15	2	1	1	1	1	0	0	3	2	2	2	2	2	4	3	2	2	1	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:139724367C>T	uc003vvl.1	-	11	2973	c.2099G>A	c.(2098-2100)cGa>cAa	p.R700Q	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	700						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CGCTCACTGTCGGCTGCTGAA	0.522													T	139724367	C	T	139724367	3	4	178	1	0	0	0	0	1	0	0	0	11533	884	31	1	10	1	PARP12	7	139724367	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	36334471	139724367	19414296	24	12371											
OR2F2	135948	broad.mit.edu	37	chr7	143632582	143632582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagctgctggcacattttcTtgcagaacataaagccatcc	11	10	7	13	0	1	1	0	0	1	1	2	1	2	1	3	1	5	4	3	1	3	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:143632582T>C	uc011ktv.2	+	0	257	c.257T>C	c.(256-258)cTt>cCt	p.L86P		NM_001004685	NP_001004685	O95006	OR2F2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily F, member 2 (OR2F2), mRNA.	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					GCACATTTTCTTGCAGAACAT	0.522													C	143632582	T	C	143632582	3	2	178	1	0	0	0	0	1	0	0	0	11073	1609	56	3	259	3	OR2F2	7	143632582	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	3908215	143632582	15506081	25	12372											
SLC4A2	6522	broad.mit.edu	37	chr7	150759094	150759094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcagcgcccctcggcGccccgccaagggcgcagatt	7	4	13	17	5	0	2	0	1	0	1	1	2	0	2	5	2	2	2	5	2	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr7:150759094G>A	uc022apz.1	+	1	1060	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SLC4A2_uc003wit.4_Missense_Mutation_p.R7H|SLC4A2_uc011kve.2_5'Flank|SLC4A2_uc003wiu.4_5'Flank	NM_001199692	NP_001186621	P04920	B3A2_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1) (SLC4A2), transcript variant 2, mRNA.	7	Pro-rich.			R -> L (in Ref. 1; CAA44067).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity	p.R7L(2)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCCCTCGGCGCCCCGCCAAG	0.667													A	150759094	G	A	150759094	3	1	178	1	0	0	0	0	1	0	0	0	14748	1087	38	1	22	1	SLC4A2	7	150759094	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	7126512	150759094	8379569	26	12373											
TRIM14	9830	broad.mit.edu	37	chr9	100857227	100857227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttaaagaagctcttgaCgggctcaaaggagaggggca	12	6	14	9	1	2	3	1	1	1	2	2	4	2	3	1	4	1	3	1	4	4	2	rs149392923		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:100857227C>T	uc004ayd.2	-	3	640	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	TRIM14_uc011luz.1_5'Flank|TRIM14_uc011lva.1_5'Flank|TRIM14_uc004ayg.1_Missense_Mutation_p.V208I|TRIM14_uc004ayh.1_Missense_Mutation_p.V208I	NM_033220	NP_150089	Q14142	TRI14_HUMAN	Homo sapiens tripartite motif containing 14 (TRIM14), transcript variant 3, mRNA.	208						cytoplasm|intracellular	zinc ion binding	p.V208I(2)|p.P207L(1)|p.P207P(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				AAGCTCTTGACGGGCTCAAAG	0.582													T	100857227	C	T	100857227	3	4	178	1	0	0	0	0	1	0	0	0	16590	536	19	1	718	1	TRIM14	9	100857227	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		100857227	40356204	27	12374											
C9orf163	158055	broad.mit.edu	37	chr9	139379109	139379109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggcggctggtgagggaggGggtgatatccgtgccacgcc	5	6	19	11	4	0	2	0	2	0	0	1	3	1	3	4	6	1	1	4	6	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr9:139379109G>A	uc004chy.3	+	0	1163	c.209G>A	c.(208-210)gGg>gAg	p.G70E	SEC16A_uc004chx.3_5'Flank|SEC16A_uc010nbn.3_5'Flank|SEC16A_uc010nbo.1_5'Flank	NM_152571	NP_689784	Q8N9P6	CI163_HUMAN	Homo sapiens chromosome 9 open reading frame 163 (C9orf163), mRNA.	70							protein binding			kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		GTGAGGGAGGGGGTGATATCC	0.687													A	139379109	G	A	139379109	3	1	178	1	0	0	0	0	1	0	0	0	2493	1232	43	2	211	2	C9orf163	9	139379109	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	38521882	139379109	1834322	28	12375											
EPC1	80314	broad.mit.edu	37	chr10	32580102	32580102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaatcaccttattaacttTgaactccttcacatccattg	12	16	2	11	0	2	1	2	1	0	0	4	1	4	1	3	0	2	0	3	0	4	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:32580102T>C	uc001iwg.1	-	5	1234	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	EPC1_uc001iwi.3_Missense_Mutation_p.K272E|EPC1_uc009xlt.2_Missense_Mutation_p.K272E|EPC1_uc001iwh.1_Missense_Mutation_p.K322E	NM_025209	NP_079485	Q9H2F5	EPC1_HUMAN	Homo sapiens enhancer of polycomb homolog 1 (Drosophila) (EPC1), mRNA.	322					histone H2A acetylation|histone H4 acetylation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear membrane|Piccolo NuA4 histone acetyltransferase complex				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(5)|urinary_tract(1)	24		Prostate(175;0.0199)				TTATTAACTTTGAACTCCTTC	0.333													C	32580102	T	C	32580102	3	2	178	1	0	0	0	0	1	0	0	0	5201	1821	63	3	1586	3	EPC1	10	32580102	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08		32580102	102954645	29	12376											
TBC1D12	23232	broad.mit.edu	37	chr10	96163266	96163266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggccgccggtgcccttgcCcgccgcggagcagggtcctg	2	5	18	16	5	0	0	0	0	0	0	1	1	1	1	6	5	3	1	6	5	0	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96163266C>A	uc001kjr.2	+	0	1081	c.896C>A	c.(895-897)cCc>cAc	p.P299H		NM_015188	NP_056003	O60347	TBC12_HUMAN	Homo sapiens TBC1 domain family, member 12 (TBC1D12), mRNA.	299						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GTGCCCTTGCCCGCCGCGGAG	0.692													A	96163266	C	A	96163266	3	1	178	1	0	0	0	0	1	0	0	0	15698	623	22	4	898	4	TBC1D12	10	96163266	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	63583164	96163266	39371481	30	12377											
C10orf129	142827	broad.mit.edu	37	chr10	96979715	96979715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggaagccattgccacCttatattgtccaggtaggag	9	11	12	9	0	1	0	0	0	1	0	2	2	2	2	4	4	2	1	4	4	4	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:96979715C>T	uc001kke.3	+	8	1312	c.1187C>T	c.(1186-1188)cCt>cTt	p.P396L	C10orf129_uc009xuu.1_Missense_Mutation_p.P306L	NM_207321	NP_997204	Q6P461	ACSM6_HUMAN	Homo sapiens chromosome 10 open reading frame 129 (C10orf129), mRNA.	396					fatty acid metabolic process	mitochondrion	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|kidney(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		CCATTGCCACCTTATATTGTC	0.368													T	96979715	C	T	96979715	3	4	178	1	0	0	0	0	1	0	0	0	1604	681	24	2	1217	2	C10orf129	10	96979715	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	816449	96979715	38555032	31	12378											
DMBT1	1755	broad.mit.edu	37	chr10	124351971	124351971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggccccaggaaatgcccGgtttggccagggctcaggac	7	6	15	13	2	1	0	1	0	0	0	2	2	1	2	4	6	1	2	4	6	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124351971G>A	uc001lgk.1	+	19	2466	c.2360G>A	c.(2359-2361)cGg>cAg	p.R787Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R777Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R787Q|DMBT1_uc021qag.1_Missense_Mutation_p.R777Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R787Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Missense_Mutation_p.R400Q	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	787	SRCR 6.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGAAATGCCCGGTTTGGCCAG	0.622													A	124351971	G	A	124351971	3	1	178	1	0	0	0	0	1	0	0	0	4616	1116	39	1	2438	1	DMBT1	10	124351971	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	27372256	124351971	11182776	32	12379											
HMX3	340784	broad.mit.edu	37	chr10	124896723	124896723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggaggagagcgactccgagGaaagcaaaaaggaaggcgaa	17	2	16	6	3	0	1	0	0	0	1	1	8	1	4	1	5	2	1	1	5	5	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:124896723G>C	uc010quc.2	+	1	550	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_001105574	NP_001099044	A6NHT5	HMX3_HUMAN	Homo sapiens H6 family homeobox 3 (HMX3), mRNA.	184					cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CGACTCCGAGGAAAGCAAAAA	0.677													C	124896723	G	C	124896723	3	2	178	1	0	0	0	0	1	0	0	0	7303	1175	41	4	556	4	HMX3	10	124896723	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	544752	124896723	10638024	33	12380											
PAOX	196743	broad.mit.edu	37	chr10	135197588	135197588	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtttgaggagcccttCtgggagccagactgccagct	7	9	14	11	0	1	2	0	1	1	1	1	5	1	5	3	3	4	2	3	3	0	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr10:135197588C>A	uc001lmv.3	+	3	1073	c.993C>A	c.(991-993)ttC>ttA	p.F331L	PAOX_uc001lmx.3_Missense_Mutation_p.F331L|PAOX_uc001lmy.3_Intron|PAOX_uc001lmz.3_Non-coding_Transcript|PAOX_uc001lna.3_Non-coding_Transcript|PAOX_uc001lnb.3_Intron|PAOX_uc001lnc.3_Intron|PAOX_uc001lmw.3_Intron	NM_152911	NP_690875	Q6QHF9	PAOX_HUMAN	Homo sapiens polyamine oxidase (exo-N4-amino) (PAOX), transcript variant 1, mRNA.	469					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		AGGAGCCCTTCTGGGAGCCAG	0.587													A	135197588	C	A	135197588	3	1	178	1	0	0	0	0	1	0	0	0	11499	912	32	4	1007	4	PAOX	10	135197588	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	10300865	135197588	337159	34	12381											
PCF11	51585	broad.mit.edu	37	chr11	82878503	82878505	+	In_Frame_Del	DEL	TTG	TTG	-																															aattacacaggatgacttccTtgttgttgtgcatcaaattc																										TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:82878503_82878505delTTG	uc001ozx.4	+	6	2393_2395	c.2048_2050delTTG	c.(2047-2052)cttgtt>ctt	p.V686del	PCF11_uc010rsu.1_In_Frame_Del_p.V686del	NM_015885	NP_056969	O94913	PCF11_HUMAN	Homo sapiens PCF11, cleavage and polyadenylation factor subunit, homolog (S. cerevisiae) (PCF11), mRNA.	686					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						GATGACTTCCTTGTTGTTGTGCA	0.33													-	82878505	TTG	-	82878503	7	5	178	1	0	1	0	1	0	0	0	0	11649	1609	56	0	2074	0	PCF11	11	82878503	In_Frame_Del	DEL	TTG	TCGA-26-5136-01B-01D-1486-08		82878503	52128013	35	12382											
TRIM49	57093	broad.mit.edu	37	chr11	89531467	89531467	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggatatattgcagcataAgtggggaggtggtaaagaga	13	10	16	2	0	0	1	0	0	0	1	0	4	0	3	0	5	2	3	0	5	5	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:89531467A>T	uc001pdb.3	-	7	1519	c.1190T>A	c.(1189-1191)cTt>cAt	p.L397H		NM_020358	NP_065091	P0CI25	TRI49_HUMAN	Homo sapiens tripartite motif containing 49 (TRIM49), mRNA.	397	B30.2/SPRY.					intracellular	zinc ion binding	p.P396Q(1)|p.P396T(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(14)|prostate(1)|skin(2)|stomach(1)	27		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				TTGCAGCATAAGTGGGGAGGT	0.428													T	89531467	A	T	89531467	3	4	178	1	0	0	0	0	1	0	0	0	16625	72	3	5	172	5	TRIM49	11	89531467	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08	6652964	89531467	45475049	36	12383											
ANGPTL5	253935	broad.mit.edu	37	chr11	101762250	101762250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accaggcatgcagggcgacaCccatcattatcaacatctga	13	7	8	13	1	3	1	2	1	1	0	3	2	3	1	2	2	2	2	2	2	2	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr11:101762250C>T	uc001pgl.3	-	8	1523	c.927G>A	c.(925-927)ggG>ggA	p.G309G		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	309	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		CAGGGCGACACCCATCATTAT	0.443													T	101762250	C	T	101762250	2	4	178	1	0	0	0	0	0	0	0	1	617	494	18	2		2	ANGPTL5	11	101762250	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08	12230783	101762250	33244266	37	12384											
TSPAN9	10867	broad.mit.edu	37	chr12	3389625	3389625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaacgtggggctgaagaaCgcctggaacatcatccaggc	13	5	12	11	2	1	2	1	1	0	1	2	3	2	3	2	4	4	1	2	4	5	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr12:3389625C>T	uc001qlp.3	+	5	591	c.408C>T	c.(406-408)aaC>aaT	p.N136N	TSPAN9_uc021qtd.1_Silent_p.N136N	NM_006675	NP_006666	O75954	TSN9_HUMAN	Homo sapiens tetraspanin 9 (TSPAN9), transcript variant 1, mRNA.	136						integral to plasma membrane|membrane fraction		p.K135R(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(31;0.00153)|COAD - Colon adenocarcinoma(12;0.0831)			GGCTGAAGAACGCCTGGAACA	0.657													T	3389625	C	T	3389625	2	4	178	1	0	0	0	0	0	0	0	1	16755	535	19	1		1	TSPAN9	12	3389625	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		3389625	130462270	38	12385											
PABPC3	5042	broad.mit.edu	37	chr13	25671151	25671151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcagaaaaaagtggaacGgcagacggaacttaagcgca	17	4	12	8	3	1	2	1	0	0	2	1	4	1	4	0	3	4	3	0	3	6	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:25671151G>A	uc001upy.3	+	0	876	c.815G>A	c.(814-816)cGg>cAg	p.R272Q		NM_030979	NP_112241	Q9H361	PABP3_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 3 (PABPC3), mRNA.	272					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	p.R272Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		AAAGTGGAACGGCAGACGGAA	0.398													A	25671151	G	A	25671151	3	1	178	1	0	0	0	0	1	0	0	0	11441	1116	39	1	817	1	PABPC3	13	25671151	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		25671151	89498727	39	12386											
UGGT2	55757	broad.mit.edu	37	chr13	96530054	96530054	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtcactttatcaaagcaTtgtccttccagtagtaagta	11	15	6	9	0	3	0	2	0	1	0	5	0	5	0	2	0	1	4	2	0	5	7			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:96530054T>C	uc001vmt.3	-	27	3455	c.3285A>G	c.(3283-3285)caA>caG	p.Q1095Q	UGGT2_uc001vmu.1_Silent_p.Q182Q	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	1095					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TATCAAAGCATTGTCCTTCCA	0.403													C	96530054	T	C	96530054	2	2	178	1	0	0	0	0	0	0	0	1	17044	1490	52	3		3	UGGT2	13	96530054	Silent	SNP	T	TCGA-26-5136-01B-01D-1486-08	70858903	96530054	18639824	40	12387											
ADPRHL1	113622	broad.mit.edu	37	chr13	114107590	114107590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatggtgttgtcactcaCgggccattctcctggcgaga	7	11	12	11	2	3	2	2	1	1	1	4	3	3	2	2	3	0	1	2	3	0	2	rs149499588		TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr13:114107590C>T	uc001vtq.1	-	0	250	c.163G>A	c.(163-165)Gtg>Atg	p.V55M		NM_138430	NP_954631	Q8NDY3	ARHL1_HUMAN	Homo sapiens ADP-ribosylhydrolase like 1 (ADPRHL1), transcript variant 1, mRNA.	55					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			TTGTCACTCACGGGCCATTCT	0.632													T	114107590	C	T	114107590	3	4	178	1	0	0	0	0	1	0	0	0	332	536	19	1	929	1	ADPRHL1	13	114107590	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	17577536	114107590	1062288	41	12388											
PEX11A	8800	broad.mit.edu	37	chr15	90226620	90226620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacaccctaacgggtcttCagcttcatctgaggatatgc	12	10	8	11	1	4	1	2	1	2	0	4	2	4	2	1	2	4	1	1	2	4	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr15:90226620C>T	uc002boi.3	-	2	827	c.732G>A	c.(730-732)ctG>ctA	p.L244L	PEX11A_uc010upy.2_Non-coding_Transcript	NM_003847	NP_003838	O75192	PX11A_HUMAN	Homo sapiens peroxisomal biogenesis factor 11 alpha (PEX11A), mRNA.	244					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AACGGGTCTTCAGCTTCATCT	0.453													T	90226620	C	T	90226620	2	4	178	1	0	0	0	0	0	0	0	1	11814	813	29	2		2	PEX11A	15	90226620	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		90226620	12304772	42	12389											
TIGD7	91151	broad.mit.edu	37	chr16	3349388	3349400	+	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TTCAGGTTCCTTT	-																															tctaagccttgaaaatcataTtcaggttcctttttgtaaag																										TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:3349388_3349400delTTCAGGTTCCTTT	uc021tcc.1	-	0	1215_1227	c.1215_1227delAAAGGAACCTGAA	c.(1213-1227)aaaaaggaacctgaafs	p.K405fs	ZNF263_uc002cur.2_3'UTR|TIGD7_uc002cus.3_Frame_Shift_Del_p.K405fs	NM_033208	NP_149985	Q6NT04	TIGD7_HUMAN	Homo sapiens tigger transposable element derived 7 (TIGD7), mRNA.	405					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						GAAAATCATATTCAGGTTCCTTTTTGTAAAGAA	0.329													-	3349400	TTCAGGTTCCTTT	-	3349388	7	5	178	1	0	1	0	1	0	0	0	0	16001	1490	52	0	426	0	TIGD7	16	3349388	Frame_Shift_Del	DEL	TTCAGGTTCCTTT	TCGA-26-5136-01B-01D-1486-08		3349388	87005365	43	12390											
CDH5	1003	broad.mit.edu	37	chr16	66429972	66429972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcagatactccatcCgcaggaccagtgacaagggc	10	5	12	14	1	0	2	0	1	0	1	2	3	2	3	4	3	1	2	4	3	2	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:66429972C>T	uc002eom.4	+	7	1384	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	410	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding	p.R410H(1)		central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		ATACTCCATCCGCAGGACCAG	0.493													T	66429972	C	T	66429972	3	4	178	1	0	0	0	0	1	0	0	0	3143	652	23	1	1254	1	CDH5	16	66429972	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	63080584	66429972	23924781	44	12391											
CDH15	1013	broad.mit.edu	37	chr16	89251737	89251737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaagtggggctggaccGcgaggtgaggtggcgccccg	6	5	20	10	4	0	1	0	1	0	0	0	3	0	2	3	6	1	2	3	6	1	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr16:89251737G>A	uc002fmt.3	+	4	736	c.659G>A	c.(658-660)cGc>cAc	p.R220H	CDH15_uc010cij.1_Missense_Mutation_p.R220H	NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GGGCTGGACCGCGAGGTGAGG	0.706													A	89251737	G	A	89251737	3	1	178	1	0	0	0	0	1	0	0	0	3130	1087	38	1	677	1	CDH15	16	89251737	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	22821765	89251737	1103016	45	12392											
TP53	7157	broad.mit.edu	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccagttggcaaaacatCttgttgagggcaggggagta	10	10	15	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	5	1	5	3	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:7578534C>A	uc002gim.2	-	4	590	c.396G>T	c.(394-396)aaG>aaT	p.K132N	TP53_uc002gig.1_Missense_Mutation_p.K132N|TP53_uc002gih.3_Missense_Mutation_p.K132N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Missense_Mutation_p.K132N|TP53_uc010cnh.1_Missense_Mutation_p.K132N|TP53_uc002gij.2_Missense_Mutation_p.K132N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.K39N|TP53_uc002gio.2_5'UTR|TP53_uc010vug.2_Missense_Mutation_p.K93N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(94)|p.K132R(37)|p.K132E(20)|p.K132Q(13)|p.Y126_K132delYSPALNK(12)|p.N131del(11)|p.K132M(10)|p.N131Y(8)|p.0?(8)|p.N131I(5)|p.K132T(5)|p.K132*(4)|p.N131fs*27(4)|p.N131fs*39(3)|p.N131S(3)|p.Y126_N131delYSPALN(3)|p.S127_Q136del10(2)|p.A129_K132delALNK(2)|p.N131H(2)|p.L130_M133delLNKM(2)|p.K39N(2)|p.N131K(2)|p.K132_A138delKMFCQLA(2)|p.K132K(2)|p.K132fs*38(2)|p.Y126fs*11(1)|p.M133fs*16(1)|p.V73fs*9(1)|p.A129_N131delALN(1)|p.N131N(1)|p.K132_M133del(1)|p.N131T(1)|p.M133fs*37(1)|p.S127fs*36(1)|p.K132W(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)		GGCAAAACATCTTGTTGAGGG	0.562		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)			A	7578534	C	A	7578534	3	1	178	1	0	0	0	0	1	0	0	0	16482	912	32	4	902	4	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08		7578534	73616676	46	12393											
PHF12	57649	broad.mit.edu	37	chr17	27240145	27240145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaggtgtcttgtcagctgTttgcagggaggtggtgactg	5	14	17	5	0	2	1	1	1	1	0	2	2	2	2	0	4	2	4	0	4	1	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:27240145T>C	uc002hdg.1	-	8	1974	c.1444A>G	c.(1444-1446)Aca>Gca	p.T482A	PHF12_uc010wbb.1_Missense_Mutation_p.T464A|PHF12_uc002hdi.1_Missense_Mutation_p.T478A|PHF12_uc002hdj.1_Missense_Mutation_p.T482A|PHF12_uc010crw.1_Missense_Mutation_p.T185A|PHF12_uc002hdh.1_Missense_Mutation_p.T265A	NM_001033561	NP_001028733	Q96QT6	PHF12_HUMAN	Homo sapiens PHD finger protein 12 (PHF12), transcript variant 1, mRNA.	482	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			TTGTCAGCTGTTTGCAGGGAG	0.542													C	27240145	T	C	27240145	3	2	178	1	0	0	0	0	1	0	0	0	11900	1725	60	3	1624	3	PHF12	17	27240145	Missense_Mutation	SNP	T	TCGA-26-5136-01B-01D-1486-08	19661611	27240145	53955065	47	12394											
KIF18B	146909	broad.mit.edu	37	chr17	43005601	43005601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatgactgtggctgggCaaacgcgaggggaatggcag	9	9	17	6	2	0	2	0	2	0	0	0	4	0	3	0	5	1	3	0	5	2	2			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr17:43005601C>G	uc010wji.2	-	12	2179	c.2078G>C	c.(2077-2079)tGc>tCc	p.C693S	KIF18B_uc002iht.3_Missense_Mutation_p.C702S|KIF18B_uc010wjh.2_Missense_Mutation_p.C690S	NM_001080443	NP_001073912			Homo sapiens kinesin family member 18B (KIF18B), mRNA.											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				TGTGGCTGGGCAAACGCGAGG	0.647													G	43005601	C	G	43005601	3	3	178	1	0	0	0	0	1	0	0	0	8339	710	25	4	504	4	KIF18B	17	43005601	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	15765456	43005601	38189609	48	12395											
EPB41L3	23136	broad.mit.edu	37	chr18	5415838	5415838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcctctgaactgtcactCgggtcattgtctagggaggc	6	13	11	11	1	5	1	2	1	3	0	7	2	6	2	1	3	1	0	1	3	2	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr18:5415838C>T	uc002kmt.1	-	12	2132	c.2046G>A	c.(2044-2046)ccG>ccA	p.P682P	EPB41L3_uc010wzh.1_Intron|EPB41L3_uc002kmu.1_Intron|EPB41L3_uc010dkq.1_Intron|EPB41L3_uc002kms.1_Intron|EPB41L3_uc010wze.1_Intron|EPB41L3_uc010wzf.1_Intron|EPB41L3_uc010wzg.1_Intron|EPB41L3_uc010dkr.2_Intron	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	682	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.D681Y(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AACTGTCACTCGGGTCATTGT	0.582													T	5415838	C	T	5415838	2	4	178	1	0	0	0	0	0	0	0	1	5195	871	31	1		1	EPB41L3	18	5415838	Silent	SNP	C	TCGA-26-5136-01B-01D-1486-08		5415838	72661410	49	12396											
NWD1	284434	broad.mit.edu	37	chr19	16860196	16860196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcctgccgtggagccGcgacttggtgaaccccaaga	8	5	12	16	4	0	2	0	1	0	1	0	4	0	3	7	2	3	0	7	2	2	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:16860196G>A	uc002neu.4	+	5	1165	c.743G>A	c.(742-744)cGc>cAc	p.R248H	NWD1_uc002net.4_Missense_Mutation_p.R113H|NWD1_uc002nev.4_Missense_Mutation_p.R42H|NWD1_uc021uqg.1_Missense_Mutation_p.R113H	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	248							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCGTGGAGCCGCGACTTGGTG	0.597													A	16860196	G	A	16860196	3	1	178	1	0	0	0	0	1	0	0	0	10857	1087	38	1	344	1	NWD1	19	16860196	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		16860196	42268787	50	12397											
MAST3	23031	broad.mit.edu	37	chr19	18218415	18218415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggagctgagcctgccaCgccgaggacgtgggtgagtt	9	6	17	9	3	0	3	0	2	0	1	0	6	0	5	3	3	3	2	3	3	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:18218415C>T	uc002nhz.4	+	1	58	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_015016	NP_055831	O60307	MAST3_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 3 (MAST3), mRNA.	20							ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GAGCCTGCCACGCCGAGGACG	0.572													T	18218415	C	T	18218415	3	4	178	1	0	0	0	0	1	0	0	0	9401	536	19	1	64	1	MAST3	19	18218415	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	1358219	18218415	40910568	51	12398											
MLL2	9757	broad.mit.edu	37	chr19	36224327	36224327	+	Frame_Shift_Del	DEL	C	C	-																															gccggtccccgccagcacctCccccatacaaagccccccgg																										TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:36224327delC	uc021usv.1	+	27	6877	c.6877delC	c.(6877-6879)cccfs	p.P2293fs	MLL2_uc021usu.1_Frame_Shift_Del_p.P1107fs	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	863	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GCCAGCACCTCCCCCATACAA	0.682			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			-	36224327	C	-	36224327	7	5	178	1	0	1	0	1	0	0	0	0	9696	855	30	0		0	MLL2	19	36224327	Frame_Shift_Del	DEL	C	TCGA-26-5136-01B-01D-1486-08	18005912	36224327	22904656	52	12399											
CD33	945	broad.mit.edu	37	chr19	51742917	51742917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccaaggacacctccaccGaatactcagaggtcaggacc	12	6	8	15	1	2	1	2	0	0	1	4	4	4	3	5	3	1	0	5	3	3	2	rs148758925	byFrequency	TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:51742917G>A	uc002pwa.2	+	6	1109	c.1069G>A	c.(1069-1071)Gaa>Aaa	p.E357K	CD33_uc010eos.1_3'UTR|CD33_uc010eot.1_Missense_Mutation_p.E230K|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	357					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CACCTCCACCGAATACTCAGA	0.527													A	51742917	G	A	51742917	3	1	178	1	0	0	0	0	1	0	0	0	3035	1059	37	1	1108	1	CD33	19	51742917	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	15518590	51742917	7386066	53	12400											
MBOAT7	79143	broad.mit.edu	37	chr19	54677935	54677935	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagcccatgcacatgtagtCataggcgcgcatcttcagga	11	8	11	11	2	3	0	2	0	1	0	3	2	3	1	1	2	2	3	1	2	3	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr19:54677935C>G	uc002qdq.3	-	8	1488	c.1222G>C	c.(1222-1224)Gac>Cac	p.D408H	TMC4_uc002qdo.3_5'Flank|TMC4_uc010erf.3_5'Flank|MBOAT7_uc010erg.3_Missense_Mutation_p.D92H|MBOAT7_uc010yem.2_Missense_Mutation_p.D390H|MBOAT7_uc002qdr.3_Missense_Mutation_p.D408H|MBOAT7_uc002qds.3_Missense_Mutation_p.D335H|MBOAT7_uc010yen.2_Missense_Mutation_p.D335H	NM_024298	NP_077274	Q96N66	MBOA7_HUMAN	Homo sapiens membrane bound O-acyltransferase domain containing 7 (MBOAT7), transcript variant 1, mRNA.	408					phospholipid biosynthetic process	integral to membrane	acyltransferase activity			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CACATGTAGTCATAGGCGCGC	0.652													G	54677935	C	G	54677935	3	3	178	1	0	0	0	0	1	0	0	0	9433	826	29	4	200	4	MBOAT7	19	54677935	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	2935018	54677935	4451048	54	12401											
SAMHD1	25939	broad.mit.edu	37	chr20	35547889	35547889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattccattagaattaataaGgtgctcaaacatcataactg	17	12	5	7	0	2	1	2	0	0	1	3	1	3	1	1	1	3	1	1	1	7	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chr20:35547889G>A	uc002xgh.2	-	6	930	c.730C>T	c.(730-732)Ctt>Ttt	p.L244F		NM_015474	NP_056289	Q9Y3Z3	SAMH1_HUMAN	Homo sapiens SAM domain and HD domain 1 (SAMHD1), mRNA.	244	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				GAATTAATAAGGTGCTCAAAC	0.368													A	35547889	G	A	35547889	3	1	178	1	0	0	0	0	1	0	0	0	13919	1000	35	2	1190	2	SAMHD1	20	35547889	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		35547889	27477631	55	12402											
PRKX	5613	broad.mit.edu	37	chrX	3573336	3573336	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatgatctctgcagagtaGaagagccccgtggtgctgga	10	8	14	9	1	1	5	0	1	1	4	2	6	1	6	2	2	3	3	2	2	2	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:3573336G>C	uc010nde.3	-	2	834	c.453C>G	c.(451-453)ttC>ttG	p.F151L		NM_005044	NP_005035	P51817	PRKX_HUMAN	Homo sapiens protein kinase, X-linked (PRKX), mRNA.	151	Protein kinase.						ATP binding|cAMP-dependent protein kinase activity			kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(2)	12		all_lung(23;0.000396)|Lung NSC(23;0.00123)				CTGCAGAGTAGAAGAGCCCCG	0.587													C	3573336	G	C	3573336	3	2	178	1	0	0	0	0	1	0	0	0	12613	933	33	4	647	4	PRKX	23	3573336	Missense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08		3573336	151697224	56	12403											
MSL3	10943	broad.mit.edu	37	chrX	11790274	11790274	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattcgtgctttttccaGgtcctctcctggaagcttgt	5	17	8	11	1	2	0	1	0	1	0	6	1	4	1	3	2	2	2	3	2	2	5			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:11790274G>A	uc004cuw.3	+	11	1387	c.1282_splice	c.e11-1	p.V428_splice	MSL3_uc011mig.2_Splice_Site_p.V279_splice|MSL3_uc011mih.2_Splice_Site_p.V416_splice|MSL3_uc004cuy.3_Splice_Site_p.V262_splice	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	428					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						GCTTTTTCCAGGTCCTCTCCT	0.443													A	11790274	G	A	11790274	5	1	178	1	0	0	0	0	0	0	1	0	9955	1014	35	2	1403	2	MSL3	23	11790274	Splice_Site	SNP	G	TCGA-26-5136-01B-01D-1486-08	8216938	11790274	143480286	57	12404											
XK	7504	broad.mit.edu	37	chrX	37545375	37545375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcgctcgtgcagctcaCgcttctcttcgtacaccgcg	4	11	10	16	7	2	0	1	0	1	0	5	0	2	0	1	0	4	5	1	0	1	4			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:37545375C>T	uc004ddq.3	+	0	243	c.161C>T	c.(160-162)aCg>aTg	p.T54M		NM_021083	NP_066569	P51811	XK_HUMAN	Homo sapiens X-linked Kx blood group (McLeod syndrome) (XK), mRNA.	54					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				GTGCAGCTCACGCTTCTCTTC	0.662													T	37545375	C	T	37545375	3	4	178	1	0	0	0	0	1	0	0	0	17533	536	19	1	163	1	XK	23	37545375	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	25755101	37545375	117725185	58	12405											
UBA1	7317	broad.mit.edu	37	chrX	47069360	47069360	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcgaacactgcggctGgcaggcactcagcccttgga	8	6	15	12	2	1	0	1	0	0	0	1	3	1	2	1	5	4	3	1	5	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:47069360G>C	uc004dhj.4	+	17	2188	c.2037G>C	c.(2035-2037)ctG>ctC	p.L679L	UBA1_uc004dhk.4_Silent_p.L679L|UBA1_uc004dhm.3_Silent_p.L127L	NM_153280	NP_695012	P22314	UBA1_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 1 (UBA1), transcript variant 2, mRNA.	679					cell death|protein modification process		ATP binding|ligase activity|protein binding|small protein activating enzyme activity			breast(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CACTGCGGCTGGCAGGCACTC	0.607													C	47069360	G	C	47069360	2	2	178	1	0	0	0	0	0	0	0	1	16929	1335	47	4		4	UBA1	23	47069360	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	9523985	47069360	108201200	59	12406											
OTUD5	55593	broad.mit.edu	37	chrX	48814296	48814296	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagccgcctcatactcGtcctcactgttgtagcctgc	5	11	9	16	2	2	0	2	0	0	0	4	0	3	0	4	0	5	4	4	0	2	3			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:48814296G>A	uc004dlu.3	-	0	598	c.537C>T	c.(535-537)gaC>gaT	p.D179D	OTUD5_uc004dlt.4_Silent_p.D179D|OTUD5_uc004dlv.3_Silent_p.D179D|OTUD5_uc011mmp.2_Intron	NM_017602	NP_060072	Q96G74	OTUD5_HUMAN	Homo sapiens OTU domain containing 5 (OTUD5), transcript variant 1, mRNA.	179					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCTCATACTCGTCCTCACTGT	0.677													A	48814296	G	A	48814296	2	1	178	1	0	0	0	0	0	0	0	1	11391	1136	40	1		1	OTUD5	23	48814296	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	1744936	48814296	106456264	60	12407											
TEX11	56159	broad.mit.edu	37	chrX	69871358	69871358	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atataaaattgagtgaaaacGttcctagggtcatgtcgttc	13	13	9	6	2	1	2	1	2	0	0	4	2	2	2	1	1	1	2	1	1	6	6			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:69871358G>A	uc004dyl.3	-	17	1632	c.1470C>T	c.(1468-1470)aaC>aaT	p.N490N	TEX11_uc004dyk.3_Silent_p.N165N|TEX11_uc004dym.3_Silent_p.N475N	NM_001003811	NP_001003811	Q8IYF3	TEX11_HUMAN	Homo sapiens testis expressed 11 (TEX11), transcript variant 1, mRNA.	490							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					GAGTGAAAACGTTCCTAGGGT	0.358													A	69871358	G	A	69871358	2	1	178	1	0	0	0	0	0	0	0	1	15874	1136	40	1		1	TEX11	23	69871358	Silent	SNP	G	TCGA-26-5136-01B-01D-1486-08	21057062	69871358	85399202	61	12408											
CXorf57	55086	broad.mit.edu	37	chrX	105855567	105855567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatgagccacgcgacaCggtgcccaagcctccccttt	9	6	11	15	3	0	2	0	1	0	1	1	4	1	3	5	2	3	0	5	2	1	1			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:105855567C>T	uc004emi.4	+	0	408	c.257C>T	c.(256-258)aCg>aTg	p.T86M	CXorf57_uc004emj.4_Missense_Mutation_p.T86M|CXorf57_uc004emh.2_Missense_Mutation_p.T86M	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	86										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGCGACACGGTGCCCAAG	0.557													T	105855567	C	T	105855567	3	4	178	1	0	0	0	0	1	0	0	0	4146	536	19	1	259	1	CXorf57	23	105855567	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	35984209	105855567	49414993	62	12409											
TMEM164	84187	broad.mit.edu	37	chrX	109247264	109247264	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcggccagaggaaggcaagGagagcctgagcaagaatctg	14	3	16	8	1	1	4	0	1	1	3	1	6	1	5	2	4	3	2	2	4	4	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:109247264G>T	uc004eom.3	+	1	601	c.262G>T	c.(262-264)Gag>Tag	p.E88*	TMEM164_uc004eon.2_Intron|TMEM164_uc010npq.3_Nonsense_Mutation_p.E88*	NM_032227	NP_060168	Q5U3C3	TM164_HUMAN	Homo sapiens transmembrane protein 164 (TMEM164), transcript variant 2, mRNA.	88						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGAAGGCAAGGAGAGCCTGAG	0.617													T	109247264	G	T	109247264	4	4	178	1	0	0	0	0	0	1	0	0	16179	1175	41	4	264	4	TMEM164	23	109247264	Nonsense_Mutation	SNP	G	TCGA-26-5136-01B-01D-1486-08	3391697	109247264	46023296	63	12410											
TREX2	11219	broad.mit.edu	37	chrX	152710600	152710600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgcagcgtccgcaccaCggcgccatcaaagccagcct	8	4	11	18	4	1	0	1	0	0	0	2	0	2	0	6	2	4	2	6	2	1	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152710600C>T	uc022chv.1	-	0	289	c.289G>A	c.(289-291)Gtg>Atg	p.V97M	TREX2_uc010nud.2_Missense_Mutation_p.V97M|TREX2_uc011myp.2_Missense_Mutation_p.V97M|TREX2_uc010nue.2_Missense_Mutation_p.V139M|HAUS7_uc004fhl.3_Non-coding_Transcript|HAUS7_uc004fhm.3_Non-coding_Transcript	NM_080701	NP_542432	Q9BQ50	TREX2_HUMAN	Homo sapiens three prime repair exonuclease 2 (TREX2), mRNA.	140					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding	p.V97M(2)|p.V140M(1)		endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCGCACCACGGCGCCATCA	0.657								Editing and processing nucleases					T	152710600	C	T	152710600	3	4	178	1	0	0	0	0	1	0	0	0	16578	536	19	1	424	1	TREX2	23	152710600	Missense_Mutation	SNP	C	TCGA-26-5136-01B-01D-1486-08	43463336	152710600	2559960	64	12411											
ATP2B3	492	broad.mit.edu	37	chrX	152830482	152830482	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggccgaaggcgaggAagagatcgaccatgccgagc	11	3	17	10	4	0	1	0	0	0	1	1	8	0	3	3	4	3	1	3	4	2	0			TCGA-26-5136-01B-01D-1486-08	TCGA-26-5136-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39e0587b-1b04-4c68-8ae4-3ae7781e8017	744f1805-ff88-4a74-b098-a00c74bce072	g.chrX:152830482A>T	uc004fht.1	+	18	3389	c.3263A>T	c.(3262-3264)gAa>gTa	p.E1088V	ATP2B3_uc004fhs.1_Missense_Mutation_p.E1088V|ATP2B3_uc010nuf.1_Missense_Mutation_p.E111V|ATP2B3_uc004fhu.1_Missense_Mutation_p.E11V	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	1088					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGCGAGGAAGAGATCGAC	0.662													T	152830482	A	T	152830482	3	4	178	1	0	0	0	0	1	0	0	0	1146	246	9	5	3337	5	ATP2B3	23	152830482	Missense_Mutation	SNP	A	TCGA-26-5136-01B-01D-1486-08	119882	152830482	2440078	65	12412											
VPS72	6944	broad.mit.edu	37	chr1	151149180	151149180	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagggaggggctcaggAggtggcgggccggggcccag	6	2	23	10	2	1	0	1	0	0	0	1	3	1	2	3	9	1	1	3	9	0	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:151149180A>T	uc001exe.1	-	5	1078	c.1035T>A	c.(1033-1035)ccT>ccA	p.P345P	TMOD4_uc001exd.3_5'Flank|TMOD4_uc001exc.4_5'Flank|TMOD4_uc010pct.2_5'Flank	NM_005997	NP_005988	Q15906	VPS72_HUMAN	Homo sapiens vacuolar protein sorting 72 homolog (S. cerevisiae) (VPS72), mRNA.	345	Poly-Pro.|Pro-rich.				chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGGGCTCAGGAGGTGGCGGGC	0.572													T	151149180	A	T	151149180	2	4	179	1	0	0	0	0	0	0	0	1	17319	291	11	5		5	VPS72	1	151149180	Silent	SNP	A	TCGA-26-5139-01A-01D-1486-08		151149180	98101441	1	12413											
GON4L	55249	broad.mit.edu	37	chr1	155646478	155646478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcatcttcagctgttcaAatagttccttcgctatctga	8	17	5	11	1	6	1	3	1	3	0	8	1	7	1	1	0	1	4	1	0	3	7			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:155646478A>G	uc010pgi.2	-	3	791	c.599T>C	c.(598-600)tTt>tCt	p.F200S	GON4L_uc021paz.1_Missense_Mutation_p.F62S|GON4L_uc010pgg.2_5'UTR|GON4L_uc010pgh.2_Missense_Mutation_p.F51S|GON4L_uc009wqt.3_Missense_Mutation_p.F51S|GON4L_uc001flh.3_Missense_Mutation_p.F200S|GON4L_uc001fll.3_Missense_Mutation_p.F62S|GON4L_uc001flk.3_Missense_Mutation_p.F51S|GON4L_uc001flm.3_Missense_Mutation_p.F51S|GON4L_uc009wqu.3_5'UTR|GON4L_uc009wqv.3_5'UTR|GON4L_uc009wqw.3_Missense_Mutation_p.F51S|GON4L_uc001flj.3_Missense_Mutation_p.F62S|GON4L_uc001fli.3_Missense_Mutation_p.F62S|GON4L_uc001flo.3_5'UTR|GON4L_uc001fln.3_Missense_Mutation_p.F128S|GON4L_uc010pgj.2_Missense_Mutation_p.F128S|GON4L_uc001flp.3_Missense_Mutation_p.F62S|GON4L_uc009wqx.3_Missense_Mutation_p.F200S|GON4L_uc010pgk.2_Missense_Mutation_p.F200S	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	651					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CAGCTGTTCAAATAGTTCCTT	0.438													G	155646478	A	G	155646478	3	3	179	1	0	0	0	0	1	0	0	0	6625	14	1	3		3	GON4L	1	155646478	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	4497298	155646478	93604143	2	12414											
PEAR1	375033	broad.mit.edu	37	chr1	156875138	156875138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtataccggaccgtgtacCgtcaggtggtgaagacggac	9	9	14	9	4	1	2	1	1	0	1	1	4	1	4	3	4	2	2	3	4	4	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:156875138C>T	uc001fqj.1	+	3	345	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN	Homo sapiens platelet endothelial aggregation receptor 1 (PEAR1), mRNA.	77	EMI.					integral to membrane		p.R77S(2)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACCGTGTACCGTCAGGTGGT	0.657													T	156875138	C	T	156875138	3	4	179	1	0	0	0	0	1	0	0	0	11788	652	23	1	239	1	PEAR1	1	156875138	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	1228660	156875138	92375483	3	12415											
CD5L	922	broad.mit.edu	37	chr1	157804444	157804444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcacacggtataccactgGttctggtgcttcacttccac	7	12	9	13	1	2	0	1	0	1	0	3	0	3	0	2	4	2	4	2	4	2	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr1:157804444G>A	uc001frk.4	-	3	614	c.471C>T	c.(469-471)aaC>aaT	p.N157N		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	157	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity	p.Q156H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TATACCACTGGTTCTGGTGCT	0.622													A	157804444	G	A	157804444	2	1	179	1	0	0	0	0	0	0	0	1	3057	1252	44	2		2	CD5L	1	157804444	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	929306	157804444	91446177	4	12416											
MYT1L	23040	broad.mit.edu	37	chr2	1926965	1926965	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgtaattgtcatattcGtcattattgttatcatcctt	9	20	4	8	2	4	0	4	0	0	0	7	0	5	0	1	0	0	2	1	0	4	8			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:1926965G>A	uc002qxe.3	-	9	1403	c.576C>T	c.(574-576)gaC>gaT	p.D192D	MYT1L_uc002qxd.3_Silent_p.D192D|MYT1L_uc010ewl.2_Non-coding_Transcript	NM_015025	NP_055840	Q9UL68	MYT1L_HUMAN	Homo sapiens myelin transcription factor 1-like (MYT1L), mRNA.	192					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TGTCATATTCGTCATTATTGT	0.388													A	1926965	G	A	1926965	2	1	179	1	0	0	0	0	0	0	0	1	10183	1136	40	1		1	MYT1L	2	1926965	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08		1926965	241272408	5	12417											
XDH	7498	broad.mit.edu	37	chr2	31620554	31620554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggcaaaggtccggaagcCctggaggatgggtctgtagc	8	7	16	10	1	1	0	0	0	1	0	2	3	2	3	3	6	2	2	3	6	3	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr2:31620554C>A	uc002rnv.1	-	5	554	c.475G>T	c.(475-477)Ggc>Tgc	p.G159C		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	159					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.Q158*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GTCCGGAAGCCCTGGAGGATG	0.552													A	31620554	C	A	31620554	3	1	179	1	0	0	0	0	1	0	0	0	17528	623	22	4	3650	4	XDH	2	31620554	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	29693589	31620554	211578819	6	12418											
CHL1	10752	broad.mit.edu	37	chr3	440026	440026	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactaagaattggggcgatAatgatagcatttttcaagat	14	13	10	4	1	1	4	1	2	0	2	1	5	1	4	0	2	1	1	0	2	5	6			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:440026A>T	uc003bot.3	+	24	3853	c.3211A>T	c.(3211-3213)Aat>Tat	p.N1071Y	CHL1_uc003bou.3_Missense_Mutation_p.N1055Y|CHL1_uc003bow.2_Missense_Mutation_p.N1055Y|CHL1_uc011asi.2_Intron	NM_006614	NP_006605	O00533	CHL1_HUMAN	Homo sapiens cell adhesion molecule with homology to L1CAM (close homolog of L1) (CHL1), transcript variant 1, mRNA.	1055					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix		p.D1070N(1)		NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		TTGGGGCGATAATGATAGCAT	0.383													T	440026	A	T	440026	3	4	179	1	0	0	0	0	1	0	0	0	3379	362	13	5	3301	5	CHL1	3	440026	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08		440026	197582404	7	12419											
FGD5	152273	broad.mit.edu	37	chr3	14861539	14861539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgcacaggatgagtccGccgaggagagctgccagatt	11	6	13	11	2	0	3	0	1	0	2	1	6	1	4	4	2	3	2	4	2	0	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:14861539G>A	uc003bzc.3	+	0	1071	c.961G>A	c.(961-963)Gcc>Acc	p.A321T	FGD5_uc011avk.2_Missense_Mutation_p.A321T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	321	Glu-rich.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGATGAGTCCGCCGAGGAGAG	0.552													A	14861539	G	A	14861539	3	1	179	1	0	0	0	0	1	0	0	0	5885	1087	38	1	963	1	FGD5	3	14861539	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	14421513	14861539	183160891	8	12420											
VILL	50853	broad.mit.edu	37	chr3	38035909	38035909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgcaccgcgaggcgcAgggccacgagtccgactgct	6	5	15	15	6	0	0	0	0	0	0	1	3	1	0	3	2	3	4	3	2	0	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:38035909A>G	uc003chj.3	+	3	579	c.293A>G	c.(292-294)cAg>cGg	p.Q98R	VILL_uc003chk.1_Missense_Mutation_p.Q98R|VILL_uc003chl.3_Missense_Mutation_p.Q98R|VILL_uc010hgu.3_5'UTR	NM_015873	NP_056957	O15195	VILL_HUMAN	Homo sapiens villin-like (VILL), mRNA.	98					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CGCGAGGCGCAGGGCCACGAG	0.721													G	38035909	A	G	38035909	3	3	179	1	0	0	0	0	1	0	0	0	17267	188	7	3	303	3	VILL	3	38035909	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	23174370	38035909	159986521	9	12421											
NPRL2	10641	broad.mit.edu	37	chr3	50385755	50385755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccaccactaccttgcttGgtcacgtaggatagacatgc	11	9	8	13	1	1	1	1	0	0	1	1	2	1	2	3	2	4	2	3	2	4	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:50385755G>A	uc003daj.1	-	7	1210	c.807C>T	c.(805-807)acC>acT	p.T269T	ZMYND10_uc003dag.1_5'Flank|ZMYND10_uc010hll.1_5'Flank|ZMYND10_uc010hlm.1_5'Flank|CYB561D2_uc003dal.3_5'Flank|CYB561D2_uc003dam.3_5'Flank	NM_006545	NP_006536	Q8WTW4	NPRL2_HUMAN	Homo sapiens nitrogen permease regulator-like 2 (S. cerevisiae) (NPRL2), mRNA.	269					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TACCTTGCTTGGTCACGTAGG	0.577													A	50385755	G	A	50385755	2	1	179	1	0	0	0	0	0	0	0	1	10673	1335	47	2		2	NPRL2	3	50385755	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	12349846	50385755	147636675	10	12422											
STXBP5L	9515	broad.mit.edu	37	chr3	120833881	120833881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcattctttctggatatgttAtcatgtggaacaaggcaatt	11	16	8	6	0	4	0	2	0	2	0	4	2	4	2	0	3	1	2	0	3	5	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:120833881A>G	uc003eec.4	+	5	720	c.580A>G	c.(580-582)Atc>Gtc	p.I194V	STXBP5L_uc011bji.2_Missense_Mutation_p.I194V	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	194					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGGATATGTTATCATGTGGAA	0.318													G	120833881	A	G	120833881	3	3	179	1	0	0	0	0	1	0	0	0	15453	449	16	3	598	3	STXBP5L	3	120833881	Missense_Mutation	SNP	A	TCGA-26-5139-01A-01D-1486-08	70448126	120833881	77188549	11	12423											
SI	6476	broad.mit.edu	37	chr3	164730787	164730787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaacagcttcatcttccGttagagttttatctattgtt	9	19	5	8	1	3	1	1	0	2	1	4	1	4	1	1	0	2	4	1	0	4	9			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr3:164730787G>A	uc003fei.3	-	33	4106	c.4043C>T	c.(4042-4044)aCg>aTg	p.T1348M		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1348	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TTCATCTTCCGTTAGAGTTTT	0.323										HNSCC(35;0.089)			A	164730787	G	A	164730787	3	1	179	1	0	0	0	0	1	0	0	0	14391	1145	40	1	1500	1	SI	3	164730787	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	43896906	164730787	33291643	12	12424											
DGKQ	1609	broad.mit.edu	37	chr4	956666	956666	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgccatcgccaccacaCaccagcacccggaagcaggg	12	2	10	17	2	0	0	0	0	0	0	1	1	0	1	5	2	3	2	5	2	1	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:956666C>A	uc003gbw.3	-	16	2003	c.1929G>T	c.(1927-1929)gtG>gtT	p.V643V	DGKQ_uc010ibn.3_Silent_p.V630V	NM_001347	NP_001338	P52824	DGKQ_HUMAN	Homo sapiens diacylglycerol kinase, theta 110kDa (DGKQ), mRNA.	643	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCACCACACACCAGCACCC	0.682													A	956666	C	A	956666	2	1	179	1	0	0	0	0	0	0	0	1	4512	465	17	4		4	DGKQ	4	956666	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08		956666	190197610	13	12425											
PRKG2	5593	broad.mit.edu	37	chr4	82056416	82056416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttctgtcacacaagcaaCgcagaatttggaggtgggtt	10	11	12	8	1	2	1	1	0	1	1	2	2	2	2	0	3	3	4	0	3	3	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:82056416C>T	uc003hmh.2	-	12	1682	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	PRKG2_uc011ccf.1_Missense_Mutation_p.V137I|PRKG2_uc011ccg.1_Missense_Mutation_p.V137I|PRKG2_uc011cch.1_Missense_Mutation_p.V528I	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	557	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ACACAAGCAACGCAGAATTTG	0.413													T	82056416	C	T	82056416	3	4	179	1	0	0	0	0	1	0	0	0	12609	536	19	1	643	1	PRKG2	4	82056416	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	81099750	82056416	109097860	14	12426											
FAT4	79633	broad.mit.edu	37	chr4	126372061	126372061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaatgaatatgtgccccGttttgtttccaaactttact	11	15	6	9	1	0	1	0	1	0	0	1	2	1	1	3	0	3	2	3	0	5	6			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:126372061G>A	uc003ifj.4	+	8	9890	c.9890G>A	c.(9889-9891)cGt>cAt	p.R3297H	FAT4_uc011cgp.2_Missense_Mutation_p.R1595H|FAT4_uc003ifi.1_Missense_Mutation_p.R775H	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	3297	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TATGTGCCCCGTTTTGTTTCC	0.403													A	126372061	G	A	126372061	3	1	179	1	0	0	0	0	1	0	0	0	5741	1145	40	1	9924	1	FAT4	4	126372061	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	44315645	126372061	64782215	15	12427											
DCHS2	54798	broad.mit.edu	37	chr4	155241880	155241880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtggatgagaaatggattCgtgccagggttgtgggattc	8	11	18	4	1	0	1	0	1	0	1	2	5	0	4	1	5	1	1	1	5	1	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:155241880C>T	uc003inw.2	-	13	3306	c.3306G>A	c.(3304-3306)acG>acA	p.T1102T		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1102	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAAATGGATTCGTGCCAGGGT	0.453													T	155241880	C	T	155241880	2	4	179	1	0	0	0	0	0	0	0	1	4322	871	31	1		1	DCHS2	4	155241880	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	28869819	155241880	35912396	16	12428											
KIAA1430	57587	broad.mit.edu	37	chr4	186111564	186111564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagactgaagagggctaaTgtctggagttgataagggac	15	8	14	4	0	1	4	0	2	1	2	1	6	1	6	0	3	0	2	0	3	5	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr4:186111564T>C	uc003ixf.4	-	1	934	c.787A>G	c.(787-789)Att>Gtt	p.I263V	KIAA1430_uc003ixg.3_Missense_Mutation_p.I263V	NM_020827	NP_065878	Q9P2B7	K1430_HUMAN	Homo sapiens KIAA1430 (KIAA1430), mRNA.	263										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		AGAGGGCTAATGTCTGGAGTT	0.398													C	186111564	T	C	186111564	3	2	179	1	0	0	0	0	1	0	0	0	8290	1464	51	3	827	3	KIAA1430	4	186111564	Missense_Mutation	SNP	T	TCGA-26-5139-01A-01D-1486-08	30869684	186111564	5042712	17	12429											
CDH18	1016	broad.mit.edu	37	chr5	19544032	19544032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagtttcttctctgtcgaGaacctttgtagtcctaatgg	7	16	10	8	1	2	1	0	0	2	1	5	3	3	2	2	2	1	2	2	2	3	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:19544032G>A	uc003jgd.3	-	8	1870	c.1336C>T	c.(1336-1338)Ctc>Ttc	p.L446F	CDH18_uc011cnm.2_Missense_Mutation_p.L446F|CDH18_uc003jgc.3_Missense_Mutation_p.L446F|CDH18_uc021xwu.1_Missense_Mutation_p.L446F	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	446	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTCTGTCGAGAACCTTTGTA	0.363													A	19544032	G	A	19544032	3	1	179	1	0	0	0	0	1	0	0	0	3133	942	33	2	1056	2	CDH18	5	19544032	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		19544032	161371228	18	12430											
PIK3R1	5295	broad.mit.edu	37	chr5	67591247	67591249	+	Splice_Site	DEL	GGT	GGT	-																															cttttcaaaactgtttttcaGgtggttgactcaaaaaggtg																										TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:67591247_67591249delGGT	uc003jva.3	+	14	2326	c.1746_splice	c.e14-1	p.M582_splice	PIK3R1_uc003jvc.3_Splice_Site_p.M282_splice|PIK3R1_uc003jvd.3_Splice_Site_p.M312_splice|PIK3R1_uc003jve.3_Splice_Site_p.M261_splice|PIK3R1_uc021xzn.1_Splice_Site_p.M219_splice|PIK3R1_uc011crb.2_Splice_Site_p.M252_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	582					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACTCA	0.365			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591249	GGT	-	67591247	8	5	179	1	0	1	0	1	0	0	1	0	11995	1014	35	0	1925	0	PIK3R1	5	67591247	Splice_Site	DEL	GGT	TCGA-26-5139-01A-01D-1486-08	48047215	67591247	113324013	19	12431											
CDK7	1022	broad.mit.edu	37	chr5	68555711	68555711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggcagattttggcctgGccaaatcttttgggagcccc	8	11	11	11	0	1	1	0	0	1	1	1	2	1	2	4	4	2	1	4	4	2	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:68555711G>A	uc003jvs.4	+	6	656	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	CDK7_uc021xzo.1_Missense_Mutation_p.A159T|CDK7_uc003jvt.4_Missense_Mutation_p.A118T	NM_001799	NP_001790	P50613	CDK7_HUMAN	Homo sapiens cyclin-dependent kinase 7 (CDK7), mRNA.	159	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TTTTGGCCTGGCCAAATCTTT	0.388								Nucleotide excision repair (NER)					A	68555711	G	A	68555711	3	1	179	1	0	0	0	0	1	0	0	0	3179	1203	42	2	501	2	CDK7	5	68555711	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	964464	68555711	112359549	20	12432											
FAM13B	51306	broad.mit.edu	37	chr5	137275998	137275998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttcttgtactctctgtaCtcctcaagcactggaacacg	9	14	6	12	1	3	0	1	0	2	0	5	1	4	1	1	1	4	3	1	1	4	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr5:137275998C>T	uc003lbz.2	-	22	3198	c.2664G>A	c.(2662-2664)gaG>gaA	p.E888E	FAM13B_uc003lcb.2_Silent_p.E764E|FAM13B_uc003lca.2_Silent_p.E860E|PKD2L2_uc003lbw.1_3'UTR|PKD2L2_uc003lbx.3_3'UTR|PKD2L2_uc003lby.3_Intron|PKD2L2_uc011cyi.1_3'UTR	NM_016603	NP_057687	Q9NYF5	FA13B_HUMAN	Homo sapiens family with sequence similarity 13, member B (FAM13B), transcript variant 1, mRNA.	888					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						ACTCTCTGTACTCCTCAAGCA	0.353													T	137275998	C	T	137275998	2	4	179	1	0	0	0	0	0	0	0	1	5498	564	20	2		2	FAM13B	5	137275998	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	68720287	137275998	43639262	21	12433											
PREP	5550	broad.mit.edu	37	chr6	105800946	105800946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagacatagcggccatcatCagataactaaaaaagaaaaa	22	5	6	8	1	2	3	2	0	0	3	2	3	2	3	1	1	2	0	1	1	8	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr6:105800946C>T	uc003prc.3	-	6	957	c.724G>A	c.(724-726)Gat>Aat	p.D242N		NM_002726	NP_002717	P48147	PPCE_HUMAN	Homo sapiens prolyl endopeptidase (PREP), mRNA.	242					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	CGGCCATCATCAGATAACTAA	0.353													T	105800946	C	T	105800946	3	4	179	1	0	0	0	0	1	0	0	0	12560	826	29	2	1444	2	PREP	6	105800946	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		105800946	65314121	22	12434											
SLC29A4	222962	broad.mit.edu	37	chr7	5340251	5340251	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcagcgtgcccatgatcCtggcggcaggcaaagtgagc	8	6	15	12	3	0	2	0	2	0	0	2	2	1	2	2	4	3	3	2	4	1	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:5340251C>T	uc003sod.3	+	9	1569	c.1408C>T	c.(1408-1410)Ctg>Ttg	p.L470L	SLC29A4_uc003soc.3_Silent_p.L470L|SLC29A4_uc003soe.3_Silent_p.L456L	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	470					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCCATGATCCTGGCGGCAGG	0.706													T	5340251	C	T	5340251	2	4	179	1	0	0	0	0	0	0	0	1	14631	680	24	2		2	SLC29A4	7	5340251	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08		5340251	153798412	23	12435											
DNAH11	8701	broad.mit.edu	37	chr7	21641054	21641054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttataaaggagacagattccGgacttcagagagaattaaat	17	10	9	5	1	1	4	1	0	0	4	2	7	2	5	1	2	0	0	1	2	6	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:21641054G>A	uc003svc.3	+	17	3497	c.3466G>A	c.(3466-3468)Gga>Aga	p.G1156R		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1156	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GACAGATTCCGGACTTCAGAG	0.343									Kartagener syndrome				A	21641054	G	A	21641054	3	1	179	1	0	0	0	0	1	0	0	0	4638	1117	39	1	3536	1	DNAH11	7	21641054	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	16300803	21641054	137497609	24	12436											
EGFR	1956	broad.mit.edu	37	chr7	55220278	55220278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagtgctccgggcgctGccgtggcaagtcccccagtg	5	6	14	16	3	0	0	0	0	0	0	2	0	2	0	5	2	3	4	5	2	1	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55220278G>A	uc003tqk.3	+	5	914	c.668G>A	c.(667-669)tGc>tAc	p.C223Y	EGFR_uc003tqh.3_Missense_Mutation_p.C223Y|EGFR_uc003tqi.3_Missense_Mutation_p.C223Y|EGFR_uc003tqj.3_Missense_Mutation_p.C223Y|EGFR_uc022adm.1_Missense_Mutation_p.C223Y|EGFR_uc010kzg.2_Missense_Mutation_p.C178Y|EGFR_uc022adn.1_Missense_Mutation_p.C178Y|EGFR_uc011kco.2_Missense_Mutation_p.C170Y|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	223					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R222C(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCGGGCGCTGCCGTGGCAAG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55220278	G	A	55220278	3	1	179	1	0	0	0	0	1	0	0	0	5006	1319	46	2	690	2	EGFR	7	55220278	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	33579224	55220278	103918385	25	12437											
EGFR	1956	broad.mit.edu	37	chr7	55238870	55238870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctttcacttcctacagatGcactgggccaggtcttgaag	8	12	9	12	0	3	2	1	1	2	1	4	2	4	2	2	2	2	1	2	2	2	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:55238870G>T	uc003tqk.3	+	15	2129	c.1883G>T	c.(1882-1884)tGc>tTc	p.C628F	EGFR_uc022adm.1_Missense_Mutation_p.C628F|EGFR_uc010kzg.2_Missense_Mutation_p.C583F|EGFR_uc022adn.1_Missense_Mutation_p.C583F|EGFR_uc011kco.2_Missense_Mutation_p.C575F|EGFR_uc011kcp.1_Non-coding_Transcript|EGFR_uc011kcq.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	628					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCCTACAGATGCACTGGGCCA	0.393		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55238870	G	T	55238870	3	4	179	1	0	0	0	0	1	0	0	0	5006	1319	46	4	2209	4	EGFR	7	55238870	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	18592	55238870	103899793	26	12438											
POM121C	100101267	broad.mit.edu	37	chr7	75068439	75068439	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttaggcacaaaagaagcGgggactccactggccaccag	13	5	11	12	1	0	1	0	0	0	1	1	2	1	2	3	4	2	1	3	4	5	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr7:75068439G>T	uc003udk.4	-	5	1176	c.291C>A	c.(289-291)ccC>ccA	p.P97P	POM121C_uc010lde.1_Silent_p.P339P	NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	339	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAAAAGAAGCGGGGACTCCAC	0.468													T	75068439	G	T	75068439	2	4	179	1	0	0	0	0	0	0	0	1	12317	1103	39	4		4	POM121C	7	75068439	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	19829569	75068439	84070224	27	12439											
MYOM2	9172	broad.mit.edu	37	chr8	2005570	2005570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcacgctcccaggcccGcgacaagctggacaaatacg	10	4	11	16	4	0	0	0	0	0	0	1	2	1	1	3	3	2	3	3	3	3	1	rs147661043		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:2005570G>A	uc003wpx.4	+	3	506	c.368G>A	c.(367-369)cGc>cAc	p.R123H	MYOM2_uc011kwi.2_Intron	NM_003970	NP_003961	P54296	MYOM2_HUMAN	Homo sapiens myomesin (M-protein) 2, 165kDa (MYOM2), mRNA.	123					muscle contraction	myosin filament	structural constituent of muscle	p.R123H(4)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCCCAGGCCCGCGACAAGCTG	0.617													A	2005570	G	A	2005570	3	1	179	1	0	0	0	0	1	0	0	0	10168	1087	38	1	378	1	MYOM2	8	2005570	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		2005570	144358452	28	12440											
CHRNB3	1142	broad.mit.edu	37	chr8	42587374	42587374	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcatcatgatttttgtgacCctgtccatcattgttaccgt	7	18	6	10	1	3	2	3	2	0	0	4	2	4	2	3	0	1	1	3	0	1	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:42587374C>A	uc003xpi.1	+	4	1052	c.924C>A	c.(922-924)acC>acA	p.T308T		NM_000749	NP_000740	Q05901	ACHB3_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 3 (CHRNB3), mRNA.	308					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TTTTTGTGACCCTGTCCATCA	0.448													A	42587374	C	A	42587374	2	1	179	1	0	0	0	0	0	0	0	1	3422	610	22	4		4	CHRNB3	8	42587374	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	40581804	42587374	103776648	29	12441											
KCNV1	27012	broad.mit.edu	37	chr8	110984560	110984560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggacaatgcgccccacGttctccagctcctgcgtggt	6	9	10	16	3	1	0	0	0	1	0	3	1	2	1	5	2	3	2	5	2	1	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr8:110984560G>A	uc003ynr.4	-	1	1722	c.918C>T	c.(916-918)aaC>aaT	p.N306N	KCNV1_uc010mcw.3_Silent_p.N306N	NM_014379	NP_055194	Q6PIU1	KCNV1_HUMAN	Homo sapiens potassium channel, subfamily V, member 1 (KCNV1), mRNA.	306						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			TGCGCCCCACGTTCTCCAGCT	0.532													A	110984560	G	A	110984560	2	1	179	1	0	0	0	0	0	0	0	1	8152	1136	40	1		1	KCNV1	8	110984560	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	68397186	110984560	35379462	30	12442											
GCNT1	2650	broad.mit.edu	37	chr9	79117571	79117571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcggtggacacctgacGactatataaacatgaccagt	12	8	9	12	2	0	2	0	2	0	0	1	4	0	3	3	2	1	0	3	2	4	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr9:79117571G>A	uc022bif.1	+	0	274	c.274G>A	c.(274-276)Gac>Aac	p.D92N	GCNT1_uc010mpf.3_Missense_Mutation_p.D92N|GCNT1_uc010mpg.3_Missense_Mutation_p.D92N|GCNT1_uc010mph.3_Missense_Mutation_p.D92N|GCNT1_uc004akf.4_Missense_Mutation_p.D92N|GCNT1_uc010mpi.3_Missense_Mutation_p.D92N|GCNT1_uc004akh.4_Missense_Mutation_p.D92N	NM_001490	NP_001481	Q02742	GCNT1_HUMAN	Homo sapiens glucosaminyl (N-acetyl) transferase 1, core 2 (GCNT1), transcript variant 2, mRNA.	92	Stem region (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						GACACCTGACGACTATATAAA	0.393													A	79117571	G	A	79117571	3	1	179	1	0	0	0	0	1	0	0	0	6354	1058	37	1	276	1	GCNT1	9	79117571	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08		79117571	62095860	31	12443											
OR4C46	119749	broad.mit.edu	37	chr11	51516009	51516009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtctcccacatcaCggttgtcatcttattctttg	6	16	6	13	1	5	0	2	0	3	0	6	0	5	0	2	1	0	1	2	1	1	4	rs137991158		TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr11:51516009C>T	uc010ric.2	+	0	728	c.728C>T	c.(727-729)aCg>aTg	p.T243M		NM_001004703	NP_001004703	A6NHA9	O4C46_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 46 (OR4C46), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						TCCCACATCACGGTTGTCATC	0.468													T	51516009	C	T	51516009	3	4	179	1	0	0	0	0	1	0	0	0	11127	536	19	1	730	1	OR4C46	11	51516009	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		51516009	83490507	32	12444											
LRRC23	10233	broad.mit.edu	37	chr12	7021983	7021983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttgataacccatgcaCggacgaaaccagctaccgcc	11	6	9	15	3	0	1	0	1	0	0	0	3	0	2	4	1	6	4	4	1	3	3	rs78482853	by1000genomes	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7021983C>T	uc001qrt.4	+	6	1240	c.848C>T	c.(847-849)aCg>aTg	p.T283M	LRRC23_uc001qrp.3_Missense_Mutation_p.T283M|LRRC23_uc001qrq.3_Intron|LRRC23_uc001qrs.3_Intron|LRRC23_uc009zfh.3_Intron|ENO2_uc001qru.1_5'Flank|ENO2_uc009zfi.1_5'Flank|ENO2_uc010sfq.1_5'Flank|ENO2_uc001qrv.1_5'Flank	NM_001135217	NP_964013	Q53EV4	LRC23_HUMAN	Homo sapiens leucine rich repeat containing 23 (LRRC23), transcript variant 3, mRNA.	283	LRRCT.									NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						AACCCATGCACGGACGAAACC	0.602													T	7021983	C	T	7021983	3	4	179	1	0	0	0	0	1	0	0	0	9048	536	19	1	870	1	LRRC23	12	7021983	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		7021983	126829912	33	12445											
PTPN6	5777	broad.mit.edu	37	chr12	7061224	7061224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatggaggggagaagtttgcGactctgacagagctggtgga	10	9	17	5	1	1	3	0	1	1	2	1	7	1	5	0	5	2	2	0	5	2	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:7061224G>A	uc001qsb.2	+	2	452	c.210G>A	c.(208-210)gcG>gcA	p.A70A	PTPN6_uc001qsa.1_Silent_p.A72A|PTPN6_uc010sfr.1_Silent_p.A31A|PTPN6_uc009zfl.1_Silent_p.A70A|PTPN6_uc010sfs.1_Silent_p.A58A	NM_002831	NP_002822	P29350	PTN6_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 6 (PTPN6), transcript variant 1, mRNA.	70	SH2 1.				apoptosis|cell junction assembly|G-protein coupled receptor protein signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|negative regulation of peptidyl-tyrosine phosphorylation|platelet activation|positive regulation of cell proliferation|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of G1/S transition of mitotic cell cycle|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol|membrane|nucleus	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|prostate(3)	18						AGAAGTTTGCGACTCTGACAG	0.587													A	7061224	G	A	7061224	2	1	179	1	0	0	0	0	0	0	0	1	12880	1045	37	1		1	PTPN6	12	7061224	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	39241	7061224	126790671	34	12446											
ADAMTS20	80070	broad.mit.edu	37	chr12	43823483	43823483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacagttggtaataaagcGgtctcaagtttagaaataaa	18	10	9	4	1	1	2	1	0	1	2	2	2	1	2	0	2	2	3	0	2	9	6			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:43823483G>A	uc010skx.2	-	23	3426	c.3426C>T	c.(3424-3426)acC>acT	p.T1142T	ADAMTS20_uc001rno.1_Intron|ADAMTS20_uc001rnp.1_Silent_p.T296T	NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	1142						proteinaceous extracellular matrix	zinc ion binding	p.A1141S(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTAATAAAGCGGTCTCAAGTT	0.338													A	43823483	G	A	43823483	2	1	179	1	0	0	0	0	0	0	0	1	266	1103	39	1		1	ADAMTS20	12	43823483	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	36762259	43823483	90028412	35	12447											
GALNT4	8693	broad.mit.edu	37	chr12	89917757	89917757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtactctatcaagattgctGatgtaagtttcaagttgtgt	10	16	9	6	1	3	2	2	1	1	1	3	2	3	2	0	0	2	5	0	0	5	6			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:89917757G>T	uc001tbd.3	-	0	827	c.570C>A	c.(568-570)atC>atA	p.I190I	GALNT4_uc001tba.3_Intron|GALNT4_uc001tbb.3_Intron|GALNT4_uc010sun.2_Intron|GALNT4_uc001tbc.3_Intron|GALNT4_uc001tbe.3_Silent_p.I187I|GALNT4_uc010suo.2_Intron	NM_003774	NP_003765	Q8N4A0	GALT4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 4 (GalNAc-T4) (GALNT4), mRNA.	190	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						CAAGATTGCTGATGTAAGTTT	0.458											OREG0022018	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	89917757	G	T	89917757	2	4	179	1	0	0	0	0	0	0	0	1	6269	1280	45	4		4	GALNT4	12	89917757	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	46094274	89917757	43934138	36	12448											
RIC8B	55188	broad.mit.edu	37	chr12	107177813	107177814	+	Frame_Shift_Ins	INS	-	-	A																															ttgaatcaacagatgaagatINSaaaagaaaggtaagccttgg																										TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:107177813_107177814insA	uc001tlw.3	+	1	248_249	c.123_124insA	c.(121-126)gataaafs	p.D41fs	RIC8B_uc001tlx.3_Frame_Shift_Ins_p.D41fs|RIC8B_uc001tly.3_5'UTR|RIC8B_uc001tlz.3_Non-coding_Transcript	NM_018157	NP_060627	Q9NVN3	RIC8B_HUMAN	Homo sapiens resistance to inhibitors of cholinesterase 8 homolog B (C. elegans) (RIC8B), mRNA.	41					regulation of G-protein coupled receptor protein signaling pathway	cell cortex|cytosol|plasma membrane	G-protein alpha-subunit binding|guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	19						CAGATGAAGATAAAAGAAAGGT	0.351													A	107177814	-	A	107177813	7	5	179	1	0	1	1	0	0	0	0	0	13445	1403	49	0	129	0	RIC8B	12	107177813	Frame_Shift_Ins	INS	-	TCGA-26-5139-01A-01D-1486-08	17260056	107177813	26674082	37	12449											
USP30	84749	broad.mit.edu	37	chr12	109495849	109495849	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcacctcccagtactcCagggatcagaaggagccccc	10	6	10	15	0	2	1	2	0	0	1	4	4	4	3	5	2	2	2	5	2	2	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:109495849C>A	uc010sxi.2	+	2	416	c.312C>A	c.(310-312)tcC>tcA	p.S104S	USP30_uc001tnu.4_Silent_p.S73S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	104					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						CCCAGTACTCCAGGGATCAGA	0.478													A	109495849	C	A	109495849	2	1	179	1	0	0	0	0	0	0	0	1	17163	581	21	4		4	USP30	12	109495849	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	2318036	109495849	24356046	38	12450											
CCDC60	160777	broad.mit.edu	37	chr12	119773039	119773039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaactcgggggctgtcCggcccttttatgcctcggag	4	9	12	16	3	0	0	0	0	0	0	3	1	1	1	5	4	2	1	5	4	2	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr12:119773039C>T	uc001txe.3	+	0	523	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W		NM_178499	NP_848594	Q8IWA6	CCD60_HUMAN	Homo sapiens coiled-coil domain containing 60 (CCDC60), mRNA.	20										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGGGGCTGTCCGGCCCTTTTA	0.502													T	119773039	C	T	119773039	3	4	179	1	0	0	0	0	1	0	0	0	2859	643	23	1	60	1	CCDC60	12	119773039	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	10277190	119773039	14078856	39	12451											
EXD1	161829	broad.mit.edu	37	chr15	41501708	41501708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatctttcacctgcagccaGcacagtttgccatggcgaca	11	9	8	13	1	2	0	1	0	1	0	2	1	2	0	3	1	4	3	3	1	1	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr15:41501708G>A	uc010ucv.2	-	6	797	c.525C>T	c.(523-525)tgC>tgT	p.C175C	EXD1_uc001znk.3_Silent_p.C117C	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	117					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	p.L175M(1)		large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						CCTGCAGCCAGCACAGTTTGC	0.373													A	41501708	G	A	41501708	2	1	179	1	0	0	0	0	0	0	0	1	5338	963	34	2		2	EXD1	15	41501708	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08		41501708	61029684	40	12452											
PKD1L2	114780	broad.mit.edu	37	chr16	81175094	81175094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtccttccaggggccaCtccgtgccgccttgggcttg	2	10	13	16	3	0	0	0	0	0	0	3	0	3	0	6	3	1	2	6	3	0	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr16:81175094C>G	uc002fgh.1	-	30	5225	c.5225G>C	c.(5224-5226)aGt>aCt	p.S1742T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1742					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGGGCCACTCCGTGCCGC	0.587													G	81175094	C	G	81175094	3	3	179	1	0	0	0	0	1	0	0	0	12042	565	20	4	2205	4	PKD1L2	16	81175094	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		81175094	9179659	41	12453											
POLR2A	5430	broad.mit.edu	37	chr17	7417217	7417217	+	Frame_Shift_Del	DEL	T	T	-																															cccaagtactcgcctaccagTcccacctattcacccaccac																										TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:7417217delT	uc002ghf.4	+	28	6020	c.5634delT	c.(5632-5634)agtfs	p.S1878fs		NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	1878	52 X 7 AA approximate tandem repeats of Y-[ST]-P-[STQ]-[ST]-P-[SRTEVKGN].				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CGCCTACCAGTcccacctatt	0.527													-	7417217	T	-	7417217	7	5	179	1	0	1	0	1	0	0	0	0	12291	1664	58	0	5748	0	POLR2A	17	7417217	Frame_Shift_Del	DEL	T	TCGA-26-5139-01A-01D-1486-08		7417217	73777993	42	12454											
AZI1	22994	broad.mit.edu	37	chr17	79164553	79164553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtcctcgaactcctggCggatcacctgggccaggttg	5	8	14	14	3	1	0	1	0	0	0	4	2	3	1	5	5	1	1	5	5	1	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr17:79164553C>T	uc002jzp.1	-	23	3202	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	AZI1_uc002jzm.1_Missense_Mutation_p.R433H|AZI1_uc002jzn.1_Missense_Mutation_p.R998H|AZI1_uc002jzo.1_Missense_Mutation_p.R962H|AZI1_uc010wum.1_Missense_Mutation_p.R965H|AZI1_uc002jzq.3_Missense_Mutation_p.R149H	NM_014984	NP_055799	Q9UPN4	AZI1_HUMAN	Homo sapiens 5-azacytidine induced 1 (AZI1), transcript variant 1, mRNA.	1001					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GAACTCCTGGCGGATCACCTG	0.692													T	79164553	C	T	79164553	3	4	179	1	0	0	0	0	1	0	0	0	1245	768	27	1	261	1	AZI1	17	79164553	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	71747336	79164553	2030657	43	12455											
DSG4	147409	broad.mit.edu	37	chr18	28989414	28989414	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcactttcttgggcaGtggctccactcttgctgctc	4	15	9	13	0	3	0	1	0	2	0	5	0	4	0	1	2	2	4	1	2	0	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:28989414G>A	uc002kwr.2	+	13	2069	c.1934_splice	c.e13-1	p.L645_splice	DSG4_uc002kwq.2_Splice_Site_p.L645_splice	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	645					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTCTTGGGCAGTGGCTCCACT	0.498													A	28989414	G	A	28989414	5	1	179	1	0	0	0	0	0	0	1	0	4818	1043	36	2	1983	2	DSG4	18	28989414	Splice_Site	SNP	G	TCGA-26-5139-01A-01D-1486-08		28989414	49087834	44	12456											
C18orf34	374864	broad.mit.edu	37	chr18	30950074	30950074	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtgaaatcattttgttGacacaaggtgctggaatatt	12	15	10	4	0	1	2	1	2	0	0	1	3	1	3	0	2	1	2	0	2	4	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:30950074G>C	uc010xbr.1	-	4	430	c.288C>G	c.(286-288)gtC>gtG	p.V96V	C18orf34_uc002kxn.2_Silent_p.V96V|C18orf34_uc010dmf.1_Silent_p.V96V|C18orf34_uc002kxo.2_Silent_p.V96V|C18orf34_uc002kxp.3_Silent_p.V96V	NM_001105528	NP_001098998	Q5BJE1	CR034_HUMAN	Homo sapiens chromosome 18 open reading frame 34 (C18orf34), transcript variant 1, mRNA.	96										NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|liver(1)|lung(36)|ovary(3)|pancreas(1)|prostate(2)|skin(2)	65						TCATTTTGTTGACACAAGGTG	0.378													C	30950074	G	C	30950074	2	2	179	1	0	0	0	0	0	0	0	1	1920	1277	45	4		4	C18orf34	18	30950074	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	1960660	30950074	47127174	45	12457											
SERPINB13	5275	broad.mit.edu	37	chr18	61262397	61262397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttgtgcttctgcccaaCgacatcgatggcctggagaa	9	11	11	10	2	1	1	0	0	1	1	2	4	1	1	2	2	3	2	2	2	2	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr18:61262397C>T	uc010xep.2	+	6	945	c.777C>T	c.(775-777)aaC>aaT	p.N259N	SERPINB13_uc002ljc.3_Silent_p.N250N|SERPINB13_uc002ljd.3_Silent_p.N114N|SERPINB13_uc010xeq.2_Silent_p.N71N|SERPINB13_uc010xer.2_Silent_p.N71N	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	250					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.N250N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTCTGCCCAACGACATCGATG	0.458													T	61262397	C	T	61262397	2	4	179	1	0	0	0	0	0	0	0	1	14193	535	19	1		1	SERPINB13	18	61262397	Silent	SNP	C	TCGA-26-5139-01A-01D-1486-08	30312323	61262397	16814851	46	12458											
TJP3	27134	broad.mit.edu	37	chr19	3728405	3728405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcctcatgcccatcttccCcgctcccctcgaccaggtgg	4	9	9	19	2	2	0	1	0	1	0	5	1	4	0	7	3	1	1	7	3	0	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:3728405C>T	uc010xhv.2	+	0	32	c.32C>T	c.(31-33)cCc>cTc	p.P11L	TJP3_uc010xhs.2_Intron|TJP3_uc010xht.2_Intron|TJP3_uc010xhu.2_Intron|TJP3_uc010xhw.2_Missense_Mutation_p.P11L	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	0	PDZ 1.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCATCTTCCCCGCTCCCCTC	0.627													T	3728405	C	T	3728405	3	4	179	1	0	0	0	0	1	0	0	0	16031	623	22	2	34	2	TJP3	19	3728405	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		3728405	55400578	47	12459											
CD70	970	broad.mit.edu	37	chr19	6586314	6586314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccatgtagatgccatcaCgatggatacgtagctgcccc	10	9	10	12	2	1	1	1	0	0	1	1	3	1	2	4	1	5	4	4	1	4	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:6586314C>T	uc010xjf.1	-	2	449	c.299G>A	c.(298-300)cGt>cAt	p.R100H	CD70_uc002mfi.3_Missense_Mutation_p.R100H	NM_001252	NP_001243	P32970	CD70_HUMAN	Homo sapiens CD70 molecule (CD70), mRNA.	100					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						GATGCCATCACGATGGATACG	0.642													T	6586314	C	T	6586314	3	4	179	1	0	0	0	0	1	0	0	0	3063	536	19	1	286	1	CD70	19	6586314	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	2857909	6586314	52542669	48	12460											
RETN	56729	broad.mit.edu	37	chr19	7734784	7734784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggctacttgcccccgaGgtgagtgcaggagactgttg	7	9	14	11	1	0	2	0	1	0	1	0	4	0	2	3	3	3	3	3	3	1	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:7734784G>A	uc002mhg.1	+	3	233	c.196_splice	c.e3+1	p.G66_splice	RETN_uc002mhf.1_Splice_Site_p.G66_splice|RETN_uc010dvm.1_Intron	NM_001193374	NP_065148	Q9HD89	RETN_HUMAN	Homo sapiens resistin (RETN), transcript variant 2, mRNA.	66							hormone activity			ovary(1)	1						TTGCCCCCGAGGTGAGTGCAG	0.627													A	7734784	G	A	7734784	3	1	179	1	0	0	0	0	1	0	0	0	13324	1014	35	2	202	2	RETN	19	7734784	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	1148470	7734784	51394199	49	12461											
PODNL1	79883	broad.mit.edu	37	chr19	14046601	14046601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggcagccagatccgCgacacggagggaccggggca	8	5	17	11	4	0	1	0	0	0	1	1	4	1	3	3	6	1	3	3	6	0	2	rs147712582	byFrequency	TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:14046601C>T	uc002mxr.3	-	4	722	c.448G>A	c.(448-450)Gcg>Acg	p.A150T	PODNL1_uc010xni.2_Missense_Mutation_p.A68T|PODNL1_uc010xnj.2_Missense_Mutation_p.A148T|PODNL1_uc002mxs.3_Intron	NM_024825	NP_079101	Q6PEZ8	PONL1_HUMAN	Homo sapiens podocan-like 1 (PODNL1), transcript variant 1, mRNA.	150	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GCCAGATCCGCGACACGGAGG	0.667													T	14046601	C	T	14046601	3	4	179	1	0	0	0	0	1	0	0	0	12256	768	27	1	1106	1	PODNL1	19	14046601	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	6311817	14046601	45082382	50	12462											
FCGBP	8857	broad.mit.edu	37	chr19	40395990	40395990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcaggtgcccatgaagtcGaagcggcggccatcgaaggt	10	5	15	11	5	0	1	0	1	0	0	2	3	0	1	2	4	2	1	2	4	3	0			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:40395990G>A	uc002omp.4	-	14	7415	c.7407C>T	c.(7405-7407)ttC>ttT	p.F2469F		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	2469	VWFD 6.					extracellular region	protein binding	p.R2468H(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCATGAAGTCGAAGCGGCGGC	0.672													A	40395990	G	A	40395990	2	1	179	1	0	0	0	0	0	0	0	1	5827	1049	37	1		1	FCGBP	19	40395990	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	26349389	40395990	18732993	51	12463											
PRR12	57479	broad.mit.edu	37	chr19	50105110	50105110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccggcgagagtggcGgagagggcatcttccgggaa	9	4	20	8	4	1	2	0	0	1	2	2	6	2	4	2	7	0	1	2	7	1	1			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr19:50105110G>A	uc002poo.4	+	5	4708	c.4708G>A	c.(4708-4710)Gga>Aga	p.G1570R		NM_020719	NP_065770	Q9ULL5	PRR12_HUMAN	Homo sapiens proline rich 12 (PRR12), mRNA.	749							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CGAGAGTGGCGGAGAGGGCAT	0.647													A	50105110	G	A	50105110	3	1	179	1	0	0	0	0	1	0	0	0	12670	1117	39	1	4730	1	PRR12	19	50105110	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	9709120	50105110	9023873	52	12464											
TMPRSS6	164656	broad.mit.edu	37	chr22	37482392	37482392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcccttcttccagaCgaccgccatgatggcccccg	6	7	11	17	3	1	2	0	1	1	1	2	3	2	2	6	2	1	1	6	2	0	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chr22:37482392C>T	uc003aqt.1	-	7	966	c.904G>A	c.(904-906)Gtc>Atc	p.V302I	TMPRSS6_uc003aqs.1_Missense_Mutation_p.V311I|TMPRSS6_uc003aqu.3_Missense_Mutation_p.V302I	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	311	CUB 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TTCTTCCAGACGACCGCCATG	0.667													T	37482392	C	T	37482392	3	4	179	1	0	0	0	0	1	0	0	0	16351	536	19	1	1548	1	TMPRSS6	22	37482392	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		37482392	13822174	53	12465											
FAM47B	170062	broad.mit.edu	37	chrX	34962542	34962542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatactgggacaggagaCgccgggcggcaccgcattct	11	6	13	11	4	1	1	0	0	1	1	1	3	1	2	2	4	1	2	2	4	3	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:34962542C>T	uc004ddi.2	+	0	1630	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	532								p.R532C(4)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGACAGGAGACGCCGGGCGGC	0.498													T	34962542	C	T	34962542	3	4	179	1	0	0	0	0	1	0	0	0	5621	536	19	1	1596	1	FAM47B	23	34962542	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08		34962542	120308018	54	12466											
WNK3	65267	broad.mit.edu	37	chrX	54319681	54319681	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagcccatcgtttgattTgaggaataggctacactggg	10	11	13	7	1	0	3	0	3	0	1	1	5	0	4	1	3	2	2	1	3	3	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:54319681T>C	uc004dtc.2	-	8	2212	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S	WNK3_uc004dtd.2_Silent_p.S591S	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	591					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TCGTTTGATTTGAGGAATAGG	0.398													C	54319681	T	C	54319681	2	2	179	1	0	0	0	0	0	0	0	1	17481	1799	63	3		3	WNK3	23	54319681	Silent	SNP	T	TCGA-26-5139-01A-01D-1486-08	19357139	54319681	100950879	55	12467											
LAS1L	81887	broad.mit.edu	37	chrX	64744052	64744052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccaatagggcctgcGtgaagttctgggagtgcagg	7	10	14	10	1	2	1	0	1	2	0	4	2	3	2	3	3	2	2	3	3	3	2			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:64744052G>A	uc004dwa.2	-	9	1275	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	LAS1L_uc004dwc.2_Missense_Mutation_p.T378M|LAS1L_uc004dwd.2_Missense_Mutation_p.T336M	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	395						MLL1 complex|nucleolus	protein binding	p.T395T(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TAGGGCCTGCGTGAAGTTCTG	0.567													A	64744052	G	A	64744052	3	1	179	1	0	0	0	0	1	0	0	0	8695	1145	40	1	1040	1	LAS1L	23	64744052	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	10424371	64744052	90526508	56	12468											
BTK	695	broad.mit.edu	37	chrX	100611220	100611220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgctgcttggtgcagacGccatacaactgcaccagctt	8	8	12	13	2	0	1	0	0	0	1	0	1	0	1	2	2	6	5	2	2	2	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:100611220G>A	uc010nno.2	-	14	1721	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	BTK_uc004ehf.2_Intron|BTK_uc010nnh.2_Intron|BTK_uc010nni.2_Intron|BTK_uc004ehe.2_Intron|BTK_uc010nnj.2_Non-coding_Transcript|BTK_uc010nnk.2_Intron|BTK_uc010nnl.2_Intron|BTK_uc010nnm.2_Silent_p.G32G|BTK_uc004ehg.2_Silent_p.G462G|BTK_uc010nnn.2_Intron|BTK_uc004ehh.1_Intron|BTK_uc004ehi.3_Silent_p.G462G	NM_000061	NP_000052	Q06187	BTK_HUMAN	Homo sapiens Bruton agammaglobulinemia tyrosine kinase (BTK), mRNA.	462	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGGTGCAGACGCCATACAACT	0.522									Agammaglobulinemia, X-linked				A	100611220	G	A	100611220	2	1	179	1	0	0	0	0	0	0	0	1	1567	1074	38	1		1	BTK	23	100611220	Silent	SNP	G	TCGA-26-5139-01A-01D-1486-08	35867168	100611220	54659340	57	12469											
SOX3	6658	broad.mit.edu	37	chrX	139586734	139586734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgctgatctcagaattgtgCatcttggggttctccagggc	6	14	12	9	0	3	2	1	1	3	1	5	2	3	2	1	3	2	3	1	3	1	4			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:139586734C>G	uc004fbd.1	-	0	492	c.492G>C	c.(490-492)atG>atC	p.M164I		NM_005634	NP_005625	P41225	SOX3_HUMAN	Homo sapiens SRY (sex determining region Y)-box 3 (SOX3), mRNA.	164					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CAGAATTGTGCATCTTGGGGT	0.622													G	139586734	C	G	139586734	3	3	179	1	0	0	0	0	1	0	0	0	15045	710	25	4	852	4	SOX3	23	139586734	Missense_Mutation	SNP	C	TCGA-26-5139-01A-01D-1486-08	38975514	139586734	15683826	58	12470											
PNMA5	114824	broad.mit.edu	37	chrX	152159506	152159506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgttggcctggagcacccGcatgattgacagagcaggcc	9	8	13	11	1	0	3	0	2	0	1	0	4	0	4	3	3	2	4	3	3	0	3			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:152159506G>A	uc022chn.1	-	0	637	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PNMA5_uc010ntx.3_Missense_Mutation_p.R213W|PNMA5_uc010ntw.3_Missense_Mutation_p.R213W|PNMA5_uc004fgy.4_Missense_Mutation_p.R213W|PNMA5_uc022chm.1_Missense_Mutation_p.R213W	NM_052926	NP_443158	Q96PV4	PNMA5_HUMAN	Homo sapiens paraneoplastic antigen like 5 (PNMA5), transcript variant 3, mRNA.	213					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGCACCCGCATGATTGAC	0.527													A	152159506	G	A	152159506	3	1	179	1	0	0	0	0	1	0	0	0	12233	1086	38	1	713	1	PNMA5	23	152159506	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	12572772	152159506	3111054	59	12471											
F8	2157	broad.mit.edu	37	chrX	154185438	154185438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattggaaaatccttcaaatGttttacacctacccacaagc	15	11	4	11	0	1	0	1	0	0	0	2	1	2	1	3	1	3	1	3	1	7	5			TCGA-26-5139-01A-01D-1486-08	TCGA-26-5139-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8199001b-a3c9-47e1-97cf-943fa8030f46	0be951d5-b639-4125-996c-c1245d7750ee	g.chrX:154185438G>A	uc004fmt.3	-	10	1717	c.1546C>T	c.(1546-1548)Cat>Tat	p.H516Y		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	516	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCTTCAAATGTTTTACACCT	0.378													A	154185438	G	A	154185438	3	1	179	1	0	0	0	0	1	0	0	0	5392	1377	48	2	5601	2	F8	23	154185438	Missense_Mutation	SNP	G	TCGA-26-5139-01A-01D-1486-08	2025932	154185438	1085122	60	12472											
UBR4	23352	broad.mit.edu	37	chr1	19504071	19504071	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcatccatgttgacgcTcaactcctggatgatctgga	9	11	10	11	1	2	3	1	3	1	0	4	5	4	5	2	2	2	3	2	2	1	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:19504071T>C	uc001bbi.3	-	18	2525	c.2521A>G	c.(2521-2523)Agc>Ggc	p.S841G	UBR4_uc001bbm.1_Missense_Mutation_p.S52G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	841					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATGTTGACGCTCAACTCCTGG	0.507													C	19504071	T	C	19504071	3	2	180	1	0	0	0	0	1	0	0	0	17006	1551	54	3	13382	3	UBR4	1	19504071	Missense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		19504071	229746550	1	12473											
ZNF643	65243	broad.mit.edu	37	chr1	40919923	40919923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggcgaaagtttagagaGtagagtgacccttggatccc	11	8	13	9	1	0	3	0	1	0	2	1	6	1	4	3	2	0	2	3	2	3	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:40919923G>T	uc001cfn.2	+	1	473	c.176G>T	c.(175-177)aGt>aTt	p.S59I	ZNF643_uc001cfl.2_Intron|ZNF643_uc001cfm.2_5'UTR	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	Homo sapiens zinc finger protein 643 (ZNF643), mRNA.	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)			AGTTTAGAGAGTAGAGTGACC	0.493													T	40919923	G	T	40919923	3	4	180	1	0	0	0	0	1	0	0	0	18160	1029	36	4	182	4	ZNF643	1	40919923	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	21415852	40919923	208330698	2	12474											
HRNR	388697	broad.mit.edu	37	chr1	152192865	152192865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccagagctgtgttggcCgcggcctgaagagtgacggg	8	7	17	9	3	0	5	0	2	0	3	1	5	1	5	3	3	1	2	3	3	1	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152192865C>T	uc001ezt.1	-	2	1316	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	414					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGTGTTGGCCGCGGCCTGAA	0.632													T	152192865	C	T	152192865	3	4	180	1	0	0	0	0	1	0	0	0	7414	652	23	1	7316	1	HRNR	1	152192865	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	111272942	152192865	97057756	3	12475											
FLG	2312	broad.mit.edu	37	chr1	152283171	152283171	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgaatgtccctcactGttagtgacctgactaccact	8	14	6	13	0	3	3	1	3	2	0	4	3	4	3	3	0	1	1	3	0	3	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152283171G>C	uc001ezu.1	-	2	4227	c.4191C>G	c.(4189-4191)aaC>aaG	p.N1397K	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1397	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTTAGTGACCT	0.567									Ichthyosis				C	152283171	G	C	152283171	3	2	180	1	0	0	0	0	1	0	0	0	5971	1368	48	4	7998	4	FLG	1	152283171	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	90306	152283171	96967450	4	12476											
LCE1C	353133	broad.mit.edu	37	chr1	152777634	152777634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctggccactccccccGccacagcagctggagccccc	6	4	11	20	1	0	0	0	0	0	0	1	2	1	1	7	2	4	3	7	2	0	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:152777634G>A	uc021ozi.1	-	0	321	c.321C>T	c.(319-321)ggC>ggT	p.G107G	LCE1C_uc001fap.1_Silent_p.G107G	NM_178351	NP_848128	Q5T751	LCE1C_HUMAN	Homo sapiens late cornified envelope 1C (LCE1C), mRNA.	107	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACTCCCCCCGCCACAGCAGC	0.662													A	152777634	G	A	152777634	2	1	180	1	0	0	0	0	0	0	0	1	8720	1074	38	1		1	LCE1C	1	152777634	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	494463	152777634	96472987	5	12477											
OR10R2	343406	broad.mit.edu	37	chr1	158449884	158449884	+	Frame_Shift_Del	DEL	A	A	-																															tcagtgtcatccacctggatAaaagcctccacacaccaatg																										TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr1:158449884delA	uc010pik.2	+	0	217	c.217delA	c.(217-219)aaafs	p.K73fs	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCACCTGGATAAAAGCCTCCA	0.418													-	158449884	A	-	158449884	7	5	180	1	0	1	0	1	0	0	0	0	10993	363	13	0	219	0	OR10R2	1	158449884	Frame_Shift_Del	DEL	A	TCGA-26-6173-01A-11D-1845-08	5672250	158449884	90800737	6	12478											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381721	144381721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgaatttggaCgacagccagtgggaggacat	14	6	15	6	1	0	2	0	1	0	1	0	8	0	5	1	3	2	1	1	3	3	1	rs138120208		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:144381721C>T	uc002tvm.4	+	11	1174	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	ARHGAP15_uc002tvn.3_Silent_p.D107D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448													T	144381721	C	T	144381721	2	4	180	1	0	0	0	0	0	0	0	1	869	535	19	1		1	ARHGAP15	2	144381721	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08		144381721	98817652	7	12479											
ZDBF2	57683	broad.mit.edu	37	chr2	207174442	207174442	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgataaaaaaaaacgttcGaagctaaaacatagagatct	20	8	7	6	2	1	2	0	1	1	1	2	4	1	2	0	0	3	3	0	0	9	4	rs140337696	by1000genomes	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr2:207174442G>A	uc002vbp.2	+	4	5440	c.5190G>A	c.(5188-5190)tcG>tcA	p.S1730S		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1730							nucleic acid binding|zinc ion binding	p.R1729C(1)|p.S1730L(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AAAAACGTTCGAAGCTAAAAC	0.458													A	207174442	G	A	207174442	2	1	180	1	0	0	0	0	0	0	0	1	17700	1045	37	1		1	ZDBF2	2	207174442	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	62792721	207174442	36024931	8	12480											
ITGA9	3680	broad.mit.edu	37	chr3	37555330	37555330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgacctgctggtgggggCccccatgttttctgagatca	5	12	12	12	0	3	2	1	2	2	1	3	3	3	2	3	3	1	2	3	3	0	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:37555330C>A	uc003chd.3	+	8	1027	c.974C>A	c.(973-975)gCc>gAc	p.A325D	ITGA9_uc003chc.3_Missense_Mutation_p.A325D	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	325					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		CTGGTGGGGGCCCCCATGTTT	0.547													A	37555330	C	A	37555330	3	1	180	1	0	0	0	0	1	0	0	0	7941	739	26	4	1008	4	ITGA9	3	37555330	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		37555330	160467100	9	12481											
NBEAL2	23218	broad.mit.edu	37	chr3	47040321	47040321	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcagatgacgtgcaggtCacgcagaccatgctgagctt	10	8	12	11	2	2	4	2	2	0	2	2	4	2	4	1	1	4	5	1	1	0	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:47040321C>T	uc003cqp.3	+	22	3515	c.3336C>T	c.(3334-3336)gtC>gtT	p.V1112V	NBEAL2_uc010hjm.2_Silent_p.V673V	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1112							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		ACGTGCAGGTCACGCAGACCA	0.672											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47040321	C	T	47040321	2	4	180	1	0	0	0	0	0	0	0	1	10265	813	29	2		2	NBEAL2	3	47040321	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	9484991	47040321	150982109	10	12482											
NLGN1	22871	broad.mit.edu	37	chr3	173525621	173525621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactatcgacttggagtactCggtaagaagagtctctcttt	11	13	9	8	2	2	2	0	0	2	2	5	4	2	3	0	2	2	2	0	2	5	5			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr3:173525621C>T	uc021xhm.1	+	4	1086	c.766_splice	c.e4+1	p.G256_splice	NLGN1_uc003fio.1_Splice_Site_p.G216_splice|NLGN1_uc010hww.1_Splice_Site_p.G256_splice|NLGN1_uc003fip.1_Splice_Site_p.G216_splice	NM_014932	NP_055747	Q8N2Q7	NLGN1_HUMAN	Homo sapiens neuroligin 1 (NLGN1), mRNA.	233					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTGGAGTACTCGGTAAGAAGA	0.383													T	173525621	C	T	173525621	2	4	180	1	0	0	0	0	0	0	0	1	10537	898	31	1		1	NLGN1	3	173525621	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	126485300	173525621	24496809	11	12483											
CLNK	116449	broad.mit.edu	37	chr4	10522452	10522452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttgcttgtcgtgaatgaAgaactataagaaaatatgtt	14	14	10	3	1	0	4	0	2	0	2	1	4	0	4	0	1	2	3	0	1	8	6			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:10522452A>G	uc003gmo.4	-	14	872	c.735T>C	c.(733-735)tcT>tcC	p.S245S		NM_052964	NP_443196	Q7Z7G1	CLNK_HUMAN	Homo sapiens cytokine-dependent hematopoietic cell linker (CLNK), mRNA.	245	Poly-Ser.				immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TCGTGAATGAAGAACTATAAG	0.363													G	10522452	A	G	10522452	2	3	180	1	0	0	0	0	0	0	0	1	3578	59	3	3		3	CLNK	4	10522452	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08		10522452	180631824	12	12484											
SLC30A9	10463	broad.mit.edu	37	chr4	42080309	42080309	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattattgatactttaggAgctgaagtagatagacttga	15	14	9	3	0	0	5	0	3	0	2	0	6	0	6	0	1	2	2	0	1	8	9			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:42080309A>G	uc003gwl.3	+	16	1775	c.1629A>G	c.(1627-1629)ggA>ggG	p.G543G	SLC30A9_uc011byx.2_Silent_p.G303G	NM_006345	NP_006336	Q6PML9	ZNT9_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 9 (SLC30A9), mRNA.	543					nucleotide-excision repair|zinc ion transport	cytoskeleton|integral to membrane|nucleus	cation transmembrane transporter activity|nucleotide binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATACTTTAGGAGCTGAAGTAG	0.299													G	42080309	A	G	42080309	2	3	180	1	0	0	0	0	0	0	0	1	14656	291	11	3		3	SLC30A9	4	42080309	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08	31557857	42080309	149073967	13	12485											
SMR3A	10879	broad.mit.edu	37	chr4	71255517	71255517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcccacctcctcctccCgcaccctatggtccagggat	8	8	7	18	1	0	1	0	0	0	1	5	2	5	2	7	2	0	1	7	2	2	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr4:71255517C>T	uc011cas.2	+	2	273	c.192C>T	c.(190-192)ccC>ccT	p.P64P	SMR3A_uc003hfh.3_Silent_p.P64P	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	68	Pro-rich.					extracellular region		p.P64P(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTCCTCCTCCCGCACCCTATG	0.602													T	71255517	C	T	71255517	2	4	180	1	0	0	0	0	0	0	0	1	14905	639	23	1		1	SMR3A	4	71255517	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	29175208	71255517	119898759	14	12486											
IRX1	79192	broad.mit.edu	37	chr5	3599499	3599499	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacgctcaaggcctggcTcaacgagcaccgcaagaatc	12	4	10	15	3	2	1	2	0	0	1	3	2	2	1	2	2	3	5	2	2	4	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:3599499T>G	uc003jde.3	+	1	489	c.437T>G	c.(436-438)cTc>cGc	p.L146R		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	146						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AAGGCCTGGCTCAACGAGCAC	0.637													G	3599499	T	G	3599499	3	3	180	1	0	0	0	0	1	0	0	0	7901	1551	54	5	443	5	IRX1	5	3599499	Missense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		3599499	177315761	15	12487											
MAP3K1	4214	broad.mit.edu	37	chr5	56176540	56176540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttcctttgtttttagccGcacaagtcagctgtccatat	7	17	6	11	1	1	0	1	0	0	0	3	0	3	0	3	0	2	3	3	0	3	7			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:56176540G>A	uc003jqw.4	+	11	2591	c.2090G>A	c.(2089-2091)cGc>cAc	p.R697H		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	697					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding	p.I696I(1)		NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		GTTTTTAGCCGCACAAGTCAG	0.398													A	56176540	G	A	56176540	3	1	180	1	0	0	0	0	1	0	0	0	9318	1087	38	1	2136	1	MAP3K1	5	56176540	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	52577041	56176540	124738720	16	12488											
CMYA5	202333	broad.mit.edu	37	chr5	79029879	79029879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagccgactttaaaaaggGaggaaatcaagaaataggcc	17	6	10	8	1	1	1	1	0	0	1	2	4	2	3	3	3	1	0	3	3	7	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:79029879G>T	uc003kgc.3	+	1	5363	c.5291G>T	c.(5290-5292)gGa>gTa	p.G1764V		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	1764						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TTTAAAAAGGGAGGAAATCAA	0.413													T	79029879	G	T	79029879	3	4	180	1	0	0	0	0	1	0	0	0	3621	1174	41	4	5297	4	CMYA5	5	79029879	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	22853339	79029879	101885381	17	12489											
FAM81B	153643	broad.mit.edu	37	chr5	94749823	94749823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaaaagaggaatcgctcGccaggaagttactggaaagc	14	7	12	8	3	0	1	0	0	0	1	3	5	0	4	1	3	2	2	1	3	6	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:94749823G>A	uc003kla.1	+	3	512	c.466G>A	c.(466-468)Gcc>Acc	p.A156T	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	156								p.A156T(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GGAATCGCTCGCCAGGAAGTT	0.458													A	94749823	G	A	94749823	3	1	180	1	0	0	0	0	1	0	0	0	5679	1087	38	1	480	1	FAM81B	5	94749823	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	15719944	94749823	86165437	18	12490											
GABRA6	2559	broad.mit.edu	37	chr5	161128647	161128647	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaccactctcgccagcCtttggaggcaccagtaaaat	10	7	7	17	1	1	0	0	0	1	0	2	1	1	1	6	2	1	2	6	2	2	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr5:161128647C>A	uc003lyu.2	+	8	1568	c.1230C>A	c.(1228-1230)gcC>gcA	p.A410A	GABRA6_uc003lyv.2_Silent_p.A181A	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	410					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCTCGCCAGCCTTTGGAGGCA	0.468										TCGA Ovarian(5;0.080)			A	161128647	C	A	161128647	2	1	180	1	0	0	0	0	0	0	0	1	6217	668	24	4		4	GABRA6	5	161128647	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08	66378824	161128647	19786613	19	12491											
CAP2	10486	broad.mit.edu	37	chr6	17543298	17543298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctccccacagacaactGtaaaaaactcggcctggtgt	11	11	7	12	1	1	1	0	0	1	1	3	1	1	1	3	2	2	1	3	2	4	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:17543298G>A	uc003ncb.3	+	10	1376	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y	CAP2_uc010jpk.1_Non-coding_Transcript|CAP2_uc011dja.2_Missense_Mutation_p.C352Y|CAP2_uc011djb.2_Missense_Mutation_p.C314Y|CAP2_uc011djc.2_Missense_Mutation_p.C266Y|CAP2_uc011djd.2_Missense_Mutation_p.C118Y	NM_006366	NP_006357	P40123	CAP2_HUMAN	Homo sapiens CAP, adenylate cyclase-associated protein, 2 (yeast) (CAP2), mRNA.	378	C-CAP/cofactor C-like.				activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			ACAGACAACTGTAAAAAACTC	0.403													A	17543298	G	A	17543298	3	1	180	1	0	0	0	0	1	0	0	0	2646	1377	48	2	1171	2	CAP2	6	17543298	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		17543298	153571769	20	12492											
ROS1	6098	broad.mit.edu	37	chr6	117638305	117638305	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttatggatcccaactgcctaCcgttgccatccgggctttac	7	12	8	14	2	0	0	0	0	0	0	2	1	2	1	5	2	5	2	5	2	4	5			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr6:117638305C>T	uc003pxp.1	-	38	6334	c.6135_splice	c.e38+1	p.T2045_splice	ROS1_uc011ebi.1_Splice_Site	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	2045	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAACTGCCTACCGTTGCCATC	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								T	117638305	C	T	117638305	5	4	180	1	0	0	0	0	0	0	1	0	13622	521	18	2	931	2	ROS1	6	117638305	Splice_Site	SNP	C	TCGA-26-6173-01A-11D-1845-08	100095007	117638305	53476762	21	12493											
DAGLB	221955	broad.mit.edu	37	chr7	6449599	6449599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcatcttcggacctatgaGtattttgctgaattccgctt	8	15	9	9	2	1	2	0	2	1	0	3	4	2	3	2	1	2	4	2	1	3	7	rs34807437		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:6449599G>A	uc003sqa.3	-	14	2058	c.1888C>T	c.(1888-1890)Ctc>Ttc	p.L630F	DAGLB_uc003spy.3_Missense_Mutation_p.L176F|DAGLB_uc003spz.3_Missense_Mutation_p.L327F|DAGLB_uc011jwt.2_Missense_Mutation_p.L444F|DAGLB_uc011jwu.2_Missense_Mutation_p.L501F|DAGLB_uc003sqb.3_Missense_Mutation_p.L349F|DAGLB_uc003sqc.3_Missense_Mutation_p.L349F|DAGLB_uc011jwv.2_Non-coding_Transcript|DAGLB_uc003sqd.4_Missense_Mutation_p.L589F	NM_139179	NP_631918	Q8NCG7	DGLB_HUMAN	Homo sapiens diacylglycerol lipase, beta (DAGLB), transcript variant 1, mRNA.	630					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGACCTATGAGTATTTTGCTG	0.577													A	6449599	G	A	6449599	3	1	180	1	0	0	0	0	1	0	0	0	4261	1029	36	2	134	2	DAGLB	7	6449599	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		6449599	152689064	22	12494											
FBXO24	26261	broad.mit.edu	37	chr7	100198322	100198322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaggaccccggggggAtggcccaggcctgcgaggag	7	2	17	15	2	0	0	0	0	0	0	0	4	0	3	6	7	1	0	6	7	0	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:100198322A>G	uc011kjz.1	+	9	1725	c.1657A>G	c.(1657-1659)Atg>Gtg	p.M553V	FBXO24_uc003uvm.1_Missense_Mutation_p.M515V|FBXO24_uc003uvn.1_Missense_Mutation_p.M153V|LOC100129845_uc011kjy.2_Intron|FBXO24_uc011kka.1_Missense_Mutation_p.M503V|LOC100129845_uc022air.1_Intron|PCOLCE_uc011kkb.1_5'Flank|PCOLCE_uc003uvo.3_5'Flank	NM_012172	NP_036304	O75426	FBX24_HUMAN	Homo sapiens F-box protein 24 (FBXO24), transcript variant 3, mRNA.	515						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCCGGGGGGATGGCCCAGGC	0.662													G	100198322	A	G	100198322	3	3	180	1	0	0	0	0	1	0	0	0	5784	333	12	3	1738	3	FBXO24	7	100198322	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	93748723	100198322	58940341	23	12495											
NOM1	64434	broad.mit.edu	37	chr7	156743012	156743012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagctggagcgttgcctcgGtttgaacaagcgcaaaaaga	14	7	12	8	3	0	2	0	1	0	1	1	3	0	3	1	2	5	4	1	2	5	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr7:156743012G>A	uc003wmy.3	+	0	596	c.581G>A	c.(580-582)gGt>gAt	p.G194D		NM_138400	NP_612409	Q5C9Z4	NOM1_HUMAN	Homo sapiens nucleolar protein with MIF4G domain 1 (NOM1), mRNA.	194	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGTTGCCTCGGTTTGAACAAG	0.617													A	156743012	G	A	156743012	3	1	180	1	0	0	0	0	1	0	0	0	10606	1261	44	2	583	2	NOM1	7	156743012	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	56544690	156743012	2395651	24	12496											
CYP11B1	1584	broad.mit.edu	37	chr8	143960555	143960555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttgcagcttctccacGtcctccggcagcatcacaca	8	9	7	17	2	2	0	1	0	1	0	5	0	4	0	4	1	3	5	4	1	0	2	rs5284		TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr8:143960555G>A	uc010mey.3	-	2	430	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CYP11B1_uc003yxh.3_5'Flank|CYP11B1_uc003yxi.3_Silent_p.D96D|CYP11B1_uc003yxj.3_Silent_p.D96D	NM_000497	NP_000488	P15538	C11B1_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 1 (CYP11B1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity	p.D96D(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	GCTTCTCCACGTCCTCCGGCA	0.627									Familial Hyperaldosteronism type I				A	143960555	G	A	143960555	2	1	180	1	0	0	0	0	0	0	0	1	4178	1136	40	1		1	CYP11B1	8	143960555	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08		143960555	2403467	25	12497											
CACNA1B	774	broad.mit.edu	37	chr9	140809200	140809200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatcctcatgtttgccatCattggcctggagttctacat	7	14	8	12	0	3	0	2	0	1	0	4	1	4	1	4	2	2	2	4	2	1	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr9:140809200C>T	uc004cog.3	+	4	862	c.717C>T	c.(715-717)atC>atT	p.I239I	CACNA1B_uc022bqn.1_Silent_p.I239I	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity	p.I239I(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGTTTGCCATCATTGGCCTGG	0.567													T	140809200	C	T	140809200	2	4	180	1	0	0	0	0	0	0	0	1	2565	816	29	2		2	CACNA1B	9	140809200	Silent	SNP	C	TCGA-26-6173-01A-11D-1845-08		140809200	404231	26	12498											
DMBT1	1755	broad.mit.edu	37	chr10	124376759	124376759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagacacttggccaacctCtcgtgcatcaacagcaggta	12	8	8	13	1	2	1	1	0	1	1	3	1	2	1	2	2	5	3	2	2	4	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr10:124376759C>G	uc001lgk.1	+	36	4593	c.4487C>G	c.(4486-4488)tCt>tGt	p.S1496C	DMBT1_uc001lgl.1_Missense_Mutation_p.S1486C|DMBT1_uc001lgm.1_Missense_Mutation_p.S868C|DMBT1_uc021qaf.1_Missense_Mutation_p.S1496C|DMBT1_uc021qag.1_Missense_Mutation_p.S1486C|DMBT1_uc021qah.1_Missense_Mutation_p.S868C|DMBT1_uc009xzz.1_Missense_Mutation_p.S1496C|DMBT1_uc010qtx.1_Missense_Mutation_p.S347C|DMBT1_uc009yab.1_Missense_Mutation_p.S199C	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	1496					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGCCAACCTCTCGTGCATCA	0.448													G	124376759	C	G	124376759	3	3	180	1	0	0	0	0	1	0	0	0	4616	913	32	4	4633	4	DMBT1	10	124376759	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		124376759	11157988	27	12499											
CKAP5	9793	broad.mit.edu	37	chr11	46783673	46783673	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctatttcctttaaggcTtttcctggggttggttggca	6	16	11	8	0	0	0	0	0	0	0	2	0	2	0	2	5	1	5	2	5	2	8			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:46783673T>C	uc001ndi.2	-	31	4224	c.4098A>G	c.(4096-4098)aaA>aaG	p.K1366K	CKAP5_uc009ylg.1_Silent_p.K1252K|CKAP5_uc001ndj.2_Silent_p.K1366K|CKAP5_uc001ndh.1_Silent_p.K295K	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN	Homo sapiens cytoskeleton associated protein 5 (CKAP5), transcript variant 1, mRNA.	1366					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						CCTTTAAGGCTTTTCCTGGGG	0.478													C	46783673	T	C	46783673	2	2	180	1	0	0	0	0	0	0	0	1	3476	1606	56	3		3	CKAP5	11	46783673	Silent	SNP	T	TCGA-26-6173-01A-11D-1845-08		46783673	88222843	28	12500											
OR8K3	219473	broad.mit.edu	37	chr11	56085805	56085805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacaacacaatctaacaaCggtgaatgaattcattctta	17	10	6	8	1	3	2	1	2	2	0	3	3	3	3	0	2	4	0	0	2	8	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:56085805C>T	uc010rjf.2	+	0	23	c.23C>T	c.(22-24)aCg>aTg	p.T8M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T8T(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					AATCTAACAACGGTGAATGAA	0.413													T	56085805	C	T	56085805	3	4	180	1	0	0	0	0	1	0	0	0	11320	536	19	1	25	1	OR8K3	11	56085805	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	9302132	56085805	78920711	29	12501											
MS4A3	932	broad.mit.edu	37	chr11	59828705	59828705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccccaggcagtgaggcGggaccagaagagctgaatac	12	4	15	10	1	0	4	0	2	0	2	0	5	0	5	3	4	3	3	3	4	4	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:59828705G>A	uc001nom.3	+	1	200	c.72G>A	c.(70-72)gcG>gcA	p.A24A	MS4A3_uc001non.3_Silent_p.A24A|MS4A3_uc001noo.3_Intron	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	24				A -> T (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				GCAGTGAGGCGGGACCAGAAG	0.493													A	59828705	G	A	59828705	2	1	180	1	0	0	0	0	0	0	0	1	9937	1103	39	1		1	MS4A3	11	59828705	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08	3742900	59828705	75177811	30	12502											
SIPA1	6494	broad.mit.edu	37	chr11	65417064	65417064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggccccagtcctgcccaAcaccaccccggacctcctcc	7	5	7	22	1	0	1	0	1	0	0	3	2	3	2	10	2	2	0	10	2	1	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:65417064A>C	uc001ofb.2	+	10	2725	c.2558A>C	c.(2557-2559)aAc>aCc	p.N853T	SIPA1_uc010rom.1_Missense_Mutation_p.N751T|SIPA1_uc001ofd.2_Missense_Mutation_p.N853T	NM_006747	NP_694985	Q96FS4	SIPA1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 (SIPA1), transcript variant 2, mRNA.	853					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						GTCCTGCCCAACACCACCCCG	0.642													C	65417064	A	C	65417064	3	2	180	1	0	0	0	0	1	0	0	0	14422	43	2	5	2596	5	SIPA1	11	65417064	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	5588359	65417064	69589452	31	12503											
MMP3	4314	broad.mit.edu	37	chr11	102709964	102709964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcctgagggatttgcGccaaaagtgcctaaaatata	14	10	9	8	1	0	1	0	1	0	0	1	2	1	2	3	1	3	1	3	1	7	5	rs147533686	by1000genomes	TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr11:102709964G>A	uc001phj.1	-	6	1011	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	DD413629_uc021qpi.1_5'Flank	NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	316	Hemopexin-like 1.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R316C(6)		endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AGGGATTTGCGCCAAAAGTGC	0.403													A	102709964	G	A	102709964	3	1	180	1	0	0	0	0	1	0	0	0	9742	1087	38	1	503	1	MMP3	11	102709964	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	37292900	102709964	32296552	32	12504											
MANSC1	54682	broad.mit.edu	37	chr12	12483054	12483054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggattctacccaggaggacGaggcctatcaccaggaacag	13	5	12	11	1	2	0	1	0	1	0	2	5	2	4	3	5	2	0	3	5	3	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr12:12483054G>A	uc001rai.1	-	3	1461	c.1203C>T	c.(1201-1203)ctC>ctT	p.L401L	MANSC1_uc010shm.1_Silent_p.L335L|MANSC1_uc001raj.1_Silent_p.L367L	NM_018050	NP_060520	Q9H8J5	MANS1_HUMAN	Homo sapiens MANSC domain containing 1 (MANSC1), mRNA.	401						integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		CCAGGAGGACGAGGCCTATCA	0.488													A	12483054	G	A	12483054	2	1	180	1	0	0	0	0	0	0	0	1	9299	1045	37	1		1	MANSC1	12	12483054	Silent	SNP	G	TCGA-26-6173-01A-11D-1845-08		12483054	121368841	33	12505											
C14orf39	317761	broad.mit.edu	37	chr14	60945101	60945101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaaacatcacatgttggCttccagctatagaaaaaaat	18	9	6	8	1	1	1	1	0	0	1	2	2	2	1	1	1	2	3	1	1	7	4			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:60945101C>A	uc001xez.4	-	4	350	c.240G>T	c.(238-240)aaG>aaT	p.K80N	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	80										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		CACATGTTGGCTTCCAGCTAT	0.259													A	60945101	C	A	60945101	3	1	180	1	0	0	0	0	1	0	0	0	1785	796	28	4	1579	4	C14orf39	14	60945101	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		60945101	46404439	34	12506											
ZFP36L1	677	broad.mit.edu	37	chr14	69256954	69256954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgacctggccgcccccggGctgcttctgggtgggcagca	3	8	16	14	2	1	1	0	1	1	0	1	1	1	1	4	4	2	5	4	4	0	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr14:69256954G>A	uc021rve.1	-	2	614	c.520C>T	c.(520-522)Ccc>Tcc	p.P174S	ZFP36L1_uc001xki.2_Missense_Mutation_p.P105S|ZFP36L1_uc001xkh.2_Missense_Mutation_p.P105S	NM_001244701	NP_001231630	Q07352	TISB_HUMAN	Homo sapiens zinc finger protein 36, C3H type-like 1 (ZFP36L1), transcript variant 3, mRNA.	105					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCGCCCCCGGGCTGCTTCTGG	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	69256954	G	A	69256954	3	1	180	1	0	0	0	0	1	0	0	0	17747	1203	42	2	707	2	ZFP36L1	14	69256954	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	8311853	69256954	38092586	35	12507											
ACAN	176	broad.mit.edu	37	chr15	89386651	89386651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagccaatgagtgccggCggctgggtgcccggctggcc	6	5	17	13	3	0	1	0	1	0	0	0	1	0	1	4	5	4	3	4	5	2	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr15:89386651C>T	uc010upo.1	+	5	1197	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	ACAN_uc002bmx.3_Missense_Mutation_p.R275W|ACAN_uc010upp.1_Missense_Mutation_p.R275W|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	275					cell adhesion		hyaluronic acid binding|sugar binding	p.R274Q(1)		NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			TGAGTGCCGGCGGCTGGGTGC	0.642													T	89386651	C	T	89386651	3	4	180	1	0	0	0	0	1	0	0	0	117	759	27	1	841	1	ACAN	15	89386651	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		89386651	13144741	36	12508											
AMDHD2	51005	broad.mit.edu	37	chr16	2580611	2580611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcacaggaggtacgCgcctggctctgccactgttc	5	9	13	14	2	1	0	0	0	1	0	3	1	2	1	3	4	2	4	3	4	1	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:2580611C>T	uc010uwc.2	+	10	1733	c.1636C>T	c.(1636-1638)Cgc>Tgc	p.R546C	AMDHD2_uc010uwd.2_Missense_Mutation_p.R310C|CEMP1_uc002cqr.3_Missense_Mutation_p.R155H	NM_001145815	NP_001139287	Q9Y303	NAGA_HUMAN	Homo sapiens amidohydrolase domain containing 2 (AMDHD2), transcript variant 2, mRNA.	0					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						AGGAGGTACGCGCCTGGCTCT	0.567													T	2580611	C	T	2580611	3	4	180	1	0	0	0	0	1	0	0	0	568	768	27	1	1716	1	AMDHD2	16	2580611	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08		2580611	87774142	37	12509											
ATXN2L	11273	broad.mit.edu	37	chr16	28847275	28847275	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtccaaactggaatcAcagcagccccgccccctcac	10	5	6	20	1	2	0	2	0	0	0	3	1	3	1	6	1	3	1	6	1	2	0			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr16:28847275A>T	uc002dqy.3	+	21	3084	c.2917A>T	c.(2917-2919)Aca>Tca	p.T973S	NPIPL1_uc010vct.2_Intron|ATXN2L_uc002dqz.3_Missense_Mutation_p.T973S|ATXN2L_uc002dra.3_Missense_Mutation_p.T973S|ATXN2L_uc002drb.3_Missense_Mutation_p.T973S|ATXN2L_uc002drc.3_Missense_Mutation_p.T973S|ATXN2L_uc010vdb.2_Missense_Mutation_p.T979S|ATXN2L_uc002dre.3_Missense_Mutation_p.T973S|ATXN2L_uc002drf.3_Missense_Mutation_p.T382S|ATXN2L_uc002drg.3_Missense_Mutation_p.T256S	NM_148414	NP_680780	Q8WWM7	ATX2L_HUMAN	Homo sapiens ataxin 2-like (ATXN2L), transcript variant C, mRNA.	973						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AACTGGAATCACAGCAGCCCC	0.622													T	28847275	A	T	28847275	3	4	180	1	0	0	0	0	1	0	0	0	1217	159	6	5	3003	5	ATXN2L	16	28847275	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	26266664	28847275	61507478	38	12510											
MYH8	4626	broad.mit.edu	37	chr17	10304645	10304645	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtcaggatgttgacttTgtcctcctctgcctgcaggt	4	16	11	10	0	2	1	1	1	1	0	4	2	4	2	3	3	2	2	3	3	0	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:10304645T>A	uc002gmm.2	-	23	3150	c.3055A>T	c.(3055-3057)Aaa>Taa	p.K1019*	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	1019					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATGTTGACTTTGTCCTCCTCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10304645	T	A	10304645	4	1	180	1	0	0	0	0	0	1	0	0	10117	1821	63	5	2826	5	MYH8	17	10304645	Nonsense_Mutation	SNP	T	TCGA-26-6173-01A-11D-1845-08		10304645	70890565	39	12511											
NLE1	54475	broad.mit.edu	37	chr17	33463392	33463392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactcacaggatccttggAggtcttggggattaactgag	10	11	12	8	0	3	1	2	1	1	0	4	4	4	4	1	5	1	0	1	5	1	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:33463392A>G	uc002hiy.1	-	7	981	c.953T>C	c.(952-954)cTc>cCc	p.L318P	NLE1_uc002hiz.1_Missense_Mutation_p.L26P	NM_018096	NP_060566	Q9NVX2	NLE1_HUMAN	Homo sapiens notchless homolog 1 (Drosophila) (NLE1), transcript variant 1, mRNA.	318						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GGATCCTTGGAGGTCTTGGGG	0.567													G	33463392	A	G	33463392	3	3	180	1	0	0	0	0	1	0	0	0	10536	304	11	3	528	3	NLE1	17	33463392	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08	23158747	33463392	47731818	40	12512											
EPX	8288	broad.mit.edu	37	chr17	56270743	56270743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcagcatcaagcagcGgcttcgcagcggttcagcca	8	6	13	14	3	2	0	2	0	0	0	3	0	2	0	2	3	5	6	2	3	1	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr17:56270743G>A	uc002ivq.3	+	2	301	c.182G>A	c.(181-183)cGg>cAg	p.R61Q		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	61					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding	p.R61W(1)		breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						ATCAAGCAGCGGCTTCGCAGC	0.612													A	56270743	G	A	56270743	3	1	180	1	0	0	0	0	1	0	0	0	5241	1116	39	1	192	1	EPX	17	56270743	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08	22807351	56270743	24924467	41	12513											
XAB2	56949	broad.mit.edu	37	chr19	7687257	7687257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtgctcctccaggaacAtggcatagttgatgacgatc	10	11	10	10	1	0	2	0	2	0	0	3	4	2	3	2	2	2	3	2	2	2	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:7687257A>G	uc002mgx.3	-	11	1603	c.1577T>C	c.(1576-1578)aTg>aCg	p.M526T		NM_020196	NP_064581	Q9HCS7	SYF1_HUMAN	Homo sapiens XPA binding protein 2 (XAB2), mRNA.	526					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CTCCAGGAACATGGCATAGTT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)					G	7687257	A	G	7687257	3	3	180	1	0	0	0	0	1	0	0	0	17520	217	8	3	1022	3	XAB2	19	7687257	Missense_Mutation	SNP	A	TCGA-26-6173-01A-11D-1845-08		7687257	51441726	42	12514											
NDUFA3	4696	broad.mit.edu	37	chr19	54609317	54609317	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgccctacaactacccAggtgagtgggggccaggcag	9	4	14	14	1	0	1	0	1	0	0	0	1	0	1	4	4	3	1	4	4	3	2			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:54609317A>C	uc002qde.3	+	3	190	c.163_splice	c.e3+1	p.V55_splice	NDUFA3_uc002qdf.3_Splice_Site	NM_004542	NP_004533	O95167	NDUA3_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa (NDUFA3), mRNA.	55					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	ACAACTACCCAGGTGAGTGGG	0.577													C	54609317	A	C	54609317	2	2	180	1	0	0	0	0	0	0	0	1	10341	202	7	5		5	NDUFA3	19	54609317	Silent	SNP	A	TCGA-26-6173-01A-11D-1845-08	46922060	54609317	4519666	43	12515											
ZNF497	162968	broad.mit.edu	37	chr19	58868065	58868065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaggagctgcgagctctCgcggaaagcctttccgcact	7	8	12	14	4	1	0	0	0	1	0	3	3	2	2	2	2	5	4	2	2	1	1			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr19:58868065C>T	uc002qsh.2	-	2	1220	c.937G>A	c.(937-939)Gag>Aag	p.E313K	A1BG_uc002qsf.2_Intron|ZNF497_uc002qsi.2_Missense_Mutation_p.E313K|ZNF497_uc021vcw.1_Missense_Mutation_p.E313K|BC023201_uc002qsj.1_5'Flank|BC023201_uc002qsk.1_5'Flank	NM_198458	NP_940860	Q6ZNH5	ZN497_HUMAN	Homo sapiens zinc finger protein 497 (ZNF497), mRNA.	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		TGCGAGCTCTCGCGGAAAGCC	0.701													T	58868065	C	T	58868065	3	4	180	1	0	0	0	0	1	0	0	0	18047	893	31	1	563	1	ZNF497	19	58868065	Missense_Mutation	SNP	C	TCGA-26-6173-01A-11D-1845-08	4258748	58868065	260918	44	12516											
NTSR1	4923	broad.mit.edu	37	chr20	61340986	61340986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgacgccggctgccgcGgctactacttcctgcgcgac	4	7	13	17	8	0	0	0	0	0	0	2	2	1	0	3	3	4	2	3	3	2	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr20:61340986G>A	uc002ydf.3	+	0	798	c.427G>A	c.(427-429)Ggc>Agc	p.G143S		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	143						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGGCTGCCGCGGCTACTACTT	0.677													A	61340986	G	A	61340986	3	1	180	1	0	0	0	0	1	0	0	0	10786	1116	39	1	429	1	NTSR1	20	61340986	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		61340986	1684534	45	12517											
EP300	2033	broad.mit.edu	37	chr22	41556657	41556657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgacaggtatcatttctGtgagaagtgtttcaatgaga	11	13	11	6	1	3	2	2	2	1	2	3	5	3	2	1	1	1	2	1	1	3	3			TCGA-26-6173-01A-11D-1845-08	TCGA-26-6173-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af373e42-cbbf-4a89-8479-bdd413011885	e7628017-ae1e-4937-856e-d47378745937	g.chr22:41556657G>A	uc003azl.4	+	19	3997	c.3602G>A	c.(3601-3603)tGt>tAt	p.C1201Y		NM_001429	NP_001420	Q09472	EP300_HUMAN	Homo sapiens E1A binding protein p300 (EP300), mRNA.	1201					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.Y1198_L1243del(2)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TATCATTTCTGTGAGAAGTGT	0.488			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				A	41556657	G	A	41556657	3	1	180	1	0	0	0	0	1	0	0	0	5189	1377	48	2	3680	2	EP300	22	41556657	Missense_Mutation	SNP	G	TCGA-26-6173-01A-11D-1845-08		41556657	9747909	46	12518											
EPHB2	2048	broad.mit.edu	37	chr1	23111326	23111326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatgtccctcatcgccGtgcgtgtcttctaccgcaag	5	11	10	15	4	3	0	1	0	2	0	5	0	4	0	3	0	3	3	3	0	2	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:23111326G>A	uc009vqj.1	+	2	713	c.568G>A	c.(568-570)Gtg>Atg	p.V190M	EPHB2_uc001bge.3_Missense_Mutation_p.V190M|EPHB2_uc001bgf.3_Missense_Mutation_p.V190M|EPHB2_uc010odu.2_Missense_Mutation_p.V190M	NM_017449	NP_059145	P29323	EPHB2_HUMAN	Homo sapiens EPH receptor B2 (EPHB2), transcript variant 1, mRNA.	190	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CCTCATCGCCGTGCGTGTCTT	0.622													A	23111326	G	A	23111326	3	1	181	1	0	0	0	0	1	0	0	0	5216	1145	40	1	578	1	EPHB2	1	23111326	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		23111326	226139295	1	12519											
PTPRU	10076	broad.mit.edu	37	chr1	29606627	29606627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaccgtgctgctgaggccGgcacagggccgcggtgcgcc	5	5	16	15	5	1	1	1	1	0	0	1	1	1	1	4	4	3	3	4	4	0	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:29606627G>A	uc001bru.3	+	10	1971	c.1842G>A	c.(1840-1842)ccG>ccA	p.P614P	PTPRU_uc009vtq.3_Silent_p.P614P|PTPRU_uc009vtr.3_Silent_p.P614P|PTPRU_uc001brw.3_Silent_p.P614P	NM_005704	NP_005695	Q92729	PTPRU_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, U (PTPRU), transcript variant 3, mRNA.	614	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TGCTGAGGCCGGCACAGGGCC	0.652													A	29606627	G	A	29606627	2	1	181	1	0	0	0	0	0	0	0	1	12901	1103	39	1		1	PTPRU	1	29606627	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	6495301	29606627	219643994	2	12520											
RPL5	6125	broad.mit.edu	37	chr1	93298990	93298990	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggcctactttaagagataCcaagtgaaatttagaagacg	17	9	9	6	1	0	4	0	1	0	3	0	5	0	4	2	1	2	0	2	1	8	6	rs148673599	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:93298990C>A	uc001doz.3	+	1	126	c.48C>A	c.(46-48)taC>taA	p.Y16*	FAM69A_uc001dpc.3_Intron|RPL5_uc001dpa.3_Non-coding_Transcript|RPL5_uc001dpb.3_5'UTR|RPL5_uc001dpd.3_5'Flank	NM_000969	NP_000960	P46777	RL5_HUMAN	Homo sapiens ribosomal protein L5 (RPL5), mRNA.	16					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		TTAAGAGATACCAAGTGAAAT	0.318													A	93298990	C	A	93298990	4	1	181	1	0	0	0	0	0	1	0	0	13688	518	18	4	54	4	RPL5	1	93298990	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	63692363	93298990	155951631	3	12521											
SYCP1	6847	broad.mit.edu	37	chr1	115401212	115401212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattcaaaactgtataaggaGgctgaaaagataaaaaaatg	21	9	8	3	0	1	2	1	1	0	1	1	3	1	3	0	2	1	2	0	2	11	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:115401212G>A	uc001efr.3	+	5	545	c.336G>A	c.(334-336)gaG>gaA	p.E112E	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Silent_p.E112E|SYCP1_uc009wgw.3_Silent_p.E112E	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	112					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTATAAGGAGGCTGAAAAGA	0.303													A	115401212	G	A	115401212	2	1	181	1	0	0	0	0	0	0	0	1	15528	991	35	2		2	SYCP1	1	115401212	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	22102222	115401212	133849409	4	12522											
SPAG17	200162	broad.mit.edu	37	chr1	118524021	118524021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaccttatgtggcttgAaatctagaaaacccaaaatg	16	10	7	8	0	1	3	0	2	1	1	1	3	1	3	2	1	2	1	2	1	8	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:118524021A>G	uc001ehk.2	-	42	5944	c.5876T>C	c.(5875-5877)tTc>tCc	p.F1959S	SPAG17_uc021osr.1_Missense_Mutation_p.F469S	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1959						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATGTGGCTTGAAATCTAGAAA	0.338													G	118524021	A	G	118524021	3	3	181	1	0	0	0	0	1	0	0	0	15075	246	9	3	819	3	SPAG17	1	118524021	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	3122809	118524021	130726600	5	12523											
CRP	1401	broad.mit.edu	37	chr1	159683681	159683681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactgtgacttcaggaacCtcgaataatatttcagaccc	12	11	7	11	1	2	2	2	1	0	1	3	4	2	3	2	1	2	1	2	1	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:159683681C>A	uc001ftw.3	-	1	413	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CRP_uc001ftx.1_Intron|CRP_uc001fty.1_Non-coding_Transcript	NM_000567	NP_000558	P02741	CRP_HUMAN	Homo sapiens C-reactive protein, pentraxin-related (CRP), mRNA.	103	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding	p.E103K(1)		breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	CTTCAGGAACCTCGAATAATA	0.468													A	159683681	C	A	159683681	3	1	181	1	0	0	0	0	1	0	0	0	3926	680	24	4	369	4	CRP	1	159683681	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	41159660	159683681	89566940	6	12524											
UHMK1	127933	broad.mit.edu	37	chr1	162492275	162492275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgtttgatgggaagtttGttgtggctacattctacccg	7	15	13	6	1	1	1	0	1	1	0	1	3	1	3	1	3	2	4	1	3	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:162492275G>C	uc001gcc.2	+	7	1391	c.1195G>C	c.(1195-1197)Gtt>Ctt	p.V399L	UHMK1_uc001gcd.3_Missense_Mutation_p.V325L|UHMK1_uc009wuu.2_3'UTR	NM_175866	NP_787062	Q8TAS1	UHMK1_HUMAN	Homo sapiens U2AF homology motif (UHM) kinase 1 (UHMK1), transcript variant 1, mRNA.	399	RRM.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGGGAAGTTTGTTGTGGCTAC	0.423													C	162492275	G	C	162492275	3	2	181	1	0	0	0	0	1	0	0	0	17068	1377	48	4	1275	4	UHMK1	1	162492275	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	2808594	162492275	86758346	7	12525											
TDRD5	163589	broad.mit.edu	37	chr1	179620128	179620128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgtgacacatcctcaaacGaagatgtctatttccatcat	12	13	6	10	1	3	2	2	1	1	1	5	3	5	2	2	0	1	0	2	0	3	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr1:179620128G>A	uc010pnp.2	+	11	2445	c.1927G>A	c.(1927-1929)Gaa>Aaa	p.E643K	TDRD5_uc021pfm.1_Missense_Mutation_p.E643K|TDRD5_uc001gnf.2_Missense_Mutation_p.E643K|TDRD5_uc021pfn.1_Missense_Mutation_p.E643K|TDRD5_uc001gnh.2_Missense_Mutation_p.E198K	NM_001199085	NP_001186014	Q8NAT2	TDRD5_HUMAN	Homo sapiens tudor domain containing 5 (TDRD5), transcript variant 1, mRNA.	643					DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						ATCCTCAAACGAAGATGTCTA	0.413													A	179620128	G	A	179620128	3	1	181	1	0	0	0	0	1	0	0	0	15833	1059	37	1	1969	1	TDRD5	1	179620128	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	17127853	179620128	69630493	8	12526											
EHD3	30845	broad.mit.edu	37	chr2	31483756	31483756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgccctgcgcaagctcAacgacctcatcaaaagggcc	11	6	9	15	2	3	0	3	0	0	0	3	1	3	0	3	1	5	3	3	1	4	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:31483756A>G	uc002rnu.3	+	3	1491	c.883A>G	c.(883-885)Aac>Gac	p.N295D	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	295					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCGCAAGCTCAACGACCTCAT	0.622													G	31483756	A	G	31483756	3	3	181	1	0	0	0	0	1	0	0	0	5018	130	5	3	897	3	EHD3	2	31483756	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		31483756	211715617	9	12527											
NCAPH	23397	broad.mit.edu	37	chr2	97035182	97035182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccccctgtcatggctCagaacctctccatacctctg	6	10	7	18	0	4	1	2	0	2	1	5	1	4	1	6	1	3	1	6	1	2	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:97035182C>A	uc002svz.1	+	16	2194	c.2110C>A	c.(2110-2112)Cag>Aag	p.Q704K	NCAPH_uc010yum.1_Missense_Mutation_p.Q680K|NCAPH_uc010yun.1_Missense_Mutation_p.Q568K	NM_015341	NP_056156	Q15003	CND2_HUMAN	Homo sapiens non-SMC condensin I complex, subunit H (NCAPH), mRNA.	704					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				TGTCATGGCTCAGAACCTCTC	0.438													A	97035182	C	A	97035182	3	1	181	1	0	0	0	0	1	0	0	0	10285	827	29	4	2176	4	NCAPH	2	97035182	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	65551426	97035182	146164191	10	12528											
SP3	6670	broad.mit.edu	37	chr2	174783399	174783399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttgatgttgttggtccCcttcttcatctaccacctgt	4	18	6	13	0	4	1	1	1	3	0	5	1	5	1	4	1	1	2	4	1	1	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:174783399C>T	uc002uig.3	-	4	2285	c.1754G>A	c.(1753-1755)gGg>gAg	p.G585E	SP3_uc002uie.3_Missense_Mutation_p.G517E|SP3_uc002uif.3_Missense_Mutation_p.G532E|SP3_uc010zel.2_Missense_Mutation_p.G582E	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	585	Repressor domain.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			TTGTTGGTCCCCTTCTTCATC	0.448													T	174783399	C	T	174783399	3	4	181	1	0	0	0	0	1	0	0	0	15059	623	22	2	603	2	SP3	2	174783399	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	77748217	174783399	68415974	11	12529											
TTN	7273	broad.mit.edu	37	chr2	179483009	179483009	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacggaataggtactcaaCtcctcctttctgtagaccag	11	10	7	13	1	2	1	1	0	1	1	4	2	4	2	3	2	2	2	3	2	5	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179483009C>A	uc021vsy.1	-	200	39697	c.39472G>T	c.(39472-39474)Gtt>Ttt	p.V13158F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V6853F|TTN_uc021vta.1_Missense_Mutation_p.V6786F|TTN_uc021vtb.1_Missense_Mutation_p.V6661F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	14085	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGTACTCAACTCCTCCTTTC	0.458													A	179483009	C	A	179483009	3	1	181	1	0	0	0	0	1	0	0	0	16837	565	20	4	60961	4	TTN	2	179483009	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	4699610	179483009	63716364	12	12530											
TTN	7273	broad.mit.edu	37	chr2	179650718	179650718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagctacctttgcggCggaaatgcgttccttatatc	8	12	10	11	3	1	0	1	0	0	0	3	1	2	1	2	3	4	3	2	3	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:179650718C>T	uc021vsy.1	-	13	2452	c.2227G>A	c.(2227-2229)Gcc>Acc	p.A743T	TTN_uc021vsz.1_Missense_Mutation_p.A697T|TTN_uc021vta.1_Missense_Mutation_p.A697T|TTN_uc021vtb.1_Missense_Mutation_p.A697T|TTN_uc002unb.2_Missense_Mutation_p.A743T|TTN_uc010frg.1_Missense_Mutation_p.A325T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	743			A -> V (in CMD1G; affects interaction with TCAP/telethonin).				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.A743T(3)|p.A697T(3)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTGCGGCGGAAATGCGT	0.547													T	179650718	C	T	179650718	3	4	181	1	0	0	0	0	1	0	0	0	16837	768	27	1	109157	1	TTN	2	179650718	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	167709	179650718	63548655	13	12531											
THAP4	51078	broad.mit.edu	37	chr2	242576398	242576398	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcgccctttccctgccggTtggagcagttcacggccgca	4	10	11	16	4	2	0	1	0	1	0	4	1	3	1	4	3	2	4	4	3	0	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr2:242576398T>C	uc002wbt.3	-	0	328	c.35A>G	c.(34-36)aAc>aGc	p.N12S	ATG4B_uc002wbu.3_5'Flank|ATG4B_uc002wbv.3_5'Flank|ATG4B_uc002wbw.3_5'Flank|ATG4B_uc010zox.2_5'Flank|ATG4B_uc010zoy.2_5'Flank|ATG4B_uc010fzp.3_5'Flank	NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	12							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		TCCCTGCCGGTTGGAGCAGTT	0.771													C	242576398	T	C	242576398	3	2	181	1	0	0	0	0	1	0	0	0	15946	1725	60	3	1730	3	THAP4	2	242576398	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	62925680	242576398	622975	14	12532											
ITGA9	3680	broad.mit.edu	37	chr3	37583996	37583996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctactttgtgctgctgggaGagaccatgggtcaggtcaca	8	11	13	9	0	3	1	2	0	1	1	3	3	3	2	1	3	3	2	1	3	1	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:37583996G>A	uc003chd.3	+	14	1662	c.1609G>A	c.(1609-1611)Gag>Aag	p.E537K	ITGA9_uc003chc.3_Missense_Mutation_p.E537K	NM_002207	NP_002198	Q13797	ITA9_HUMAN	Homo sapiens integrin, alpha 9 (ITGA9), mRNA.	537					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		GCTGCTGGGAGAGACCATGGG	0.527													A	37583996	G	A	37583996	3	1	181	1	0	0	0	0	1	0	0	0	7941	943	33	2	1667	2	ITGA9	3	37583996	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		37583996	160438434	15	12533											
SCN10A	6336	broad.mit.edu	37	chr3	38835414	38835414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttgttccctgcttggCagcaatttgcttctctatct	4	20	6	11	0	3	0	0	0	3	0	5	0	4	0	1	1	3	5	1	1	2	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:38835414C>T	uc003ciq.3	-	0	88	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	30					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCCTGCTTGGCAGCAATTTGC	0.507													T	38835414	C	T	38835414	3	4	181	1	0	0	0	0	1	0	0	0	14005	710	25	2	5890	2	SCN10A	3	38835414	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	1251418	38835414	159187016	16	12534											
EPHA3	2042	broad.mit.edu	37	chr3	89259060	89259060	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacacacccatcaggacttaCcaggtgtgcaatgtcatgga	12	9	9	11	0	2	0	2	0	0	0	2	2	2	2	2	3	3	1	2	3	3	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:89259060C>G	uc003dqy.3	+	2	429	c.204C>G	c.(202-204)taC>taG	p.Y68*	EPHA3_uc003dqx.1_Nonsense_Mutation_p.Y68*|EPHA3_uc021xbf.1_Nonsense_Mutation_p.Y68*	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	68						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TCAGGACTTACCAGGTGTGCA	0.438										TSP Lung(6;0.00050)			G	89259060	C	G	89259060	4	3	181	1	0	0	0	0	0	1	0	0	5209	518	18	4	214	4	EPHA3	3	89259060	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	50423646	89259060	108763370	17	12535											
OR5H1	26341	broad.mit.edu	37	chr3	97852369	97852369	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatatggtggagcctctAttctacactgtcatcattcc	10	13	7	11	0	4	1	2	0	2	1	5	2	5	2	2	2	2	0	2	2	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:97852369A>G	uc011bgt.2	+	0	828	c.828A>G	c.(826-828)ctA>ctG	p.L276L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						TGGAGCCTCTATTCTACACTG	0.388													G	97852369	A	G	97852369	2	3	181	1	0	0	0	0	0	0	0	1	11235	436	16	3		3	OR5H1	3	97852369	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	8593309	97852369	100170061	18	12536											
PARP9	83666	broad.mit.edu	37	chr3	122271392	122271392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttgtggcaagaaattccGatttcatttcaactcctgct	9	15	6	11	1	2	1	2	0	0	1	4	2	4	1	3	1	2	2	3	1	3	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:122271392G>A	uc010hri.3	-	4	1230	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	PARP9_uc003eff.4_Missense_Mutation_p.S327L|PARP9_uc011bjs.2_Missense_Mutation_p.S327L|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.S327L|PARP9_uc003efh.3_Missense_Mutation_p.S362L|PARP9_uc003efj.2_Missense_Mutation_p.S327L	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	362	Macro 2.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAGAAATTCCGATTTCATTTC	0.373													A	122271392	G	A	122271392	3	1	181	1	0	0	0	0	1	0	0	0	11542	1059	37	1	1560	1	PARP9	3	122271392	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	24419023	122271392	75751038	19	12537											
CPNE4	131034	broad.mit.edu	37	chr3	131261494	131261494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccatcatcaccgtccagCatctgcatgtcactgaagtc	10	10	6	15	1	4	1	3	1	1	0	7	1	6	1	3	0	2	2	3	0	1	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:131261494C>T	uc011blq.2	-	14	1610	c.1500G>A	c.(1498-1500)atG>atA	p.M500I	CPNE4_uc003eok.3_Missense_Mutation_p.M482I|CPNE4_uc003eol.3_Missense_Mutation_p.M500I|CPNE4_uc003eom.3_Missense_Mutation_p.M482I|CPNE4_uc003eoj.3_Missense_Mutation_p.M33I	NM_130808	NP_570720	Q96A23	CPNE4_HUMAN	Homo sapiens copine IV (CPNE4), mRNA.	482	VWFA.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CACCGTCCAGCATCTGCATGT	0.557													T	131261494	C	T	131261494	3	4	181	1	0	0	0	0	1	0	0	0	3845	710	25	2	235	2	CPNE4	3	131261494	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	8990102	131261494	66760936	20	12538											
NPHP3	27031	broad.mit.edu	37	chr3	132413753	132413754	+	Frame_Shift_Ins	INS	-	-	C																															tctatataatgaaagagtatINScttgacactggaaacactga																										TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:132413753_132413754insC	uc003epe.2	-	15	2331_2332	c.2227_2228insG	c.(2227-2229)gatfs	p.D743fs	NPHP3_uc003epd.2_5'UTR	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	743					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGAAAGAGTATCTTGACACTGG	0.381													C	132413754	-	C	132413753	7	5	181	1	0	1	1	0	0	0	0	0	10656	1435	50	0	1812	0	NPHP3	3	132413753	Frame_Shift_Ins	INS	-	TCGA-26-6174-01A-21D-1845-08	1152259	132413753	65608677	21	12539											
ALG3	10195	broad.mit.edu	37	chr3	183961666	183961666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcgatgcaggaagagcGcctctgggaggaagcgccag	10	4	17	10	3	1	1	0	0	1	1	2	5	1	4	2	4	3	2	2	4	2	0	rs2233466	by1000genomes	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr3:183961666G>A	uc003fne.2	-	5	876	c.845C>T	c.(844-846)gCg>gTg	p.A282V	ALG3_uc011brc.1_Missense_Mutation_p.A247V|ALG3_uc011brd.1_Missense_Mutation_p.A226V|ALG3_uc011bre.1_Missense_Mutation_p.A234V	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	282					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAGGAAGAGCGCCTCTGGGAG	0.612													A	183961666	G	A	183961666	3	1	181	1	0	0	0	0	1	0	0	0	520	1087	38	1	487	1	ALG3	3	183961666	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	51547913	183961666	14060764	22	12540											
CDKL2	8999	broad.mit.edu	37	chr4	76522320	76522320	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcatggagacagctggcaTttgaagctctattgcctttt	8	15	10	8	0	2	2	1	1	1	1	2	3	2	2	1	2	3	3	1	2	2	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:76522320T>C	uc011cbp.2	-	8	1646	c.1121A>G	c.(1120-1122)aAt>aGt	p.N374S	CDKL2_uc003hiq.3_Missense_Mutation_p.N374S	NM_003948	NP_003939	Q92772	CDKL2_HUMAN	Homo sapiens cyclin-dependent kinase-like 2 (CDC2-related kinase) (CDKL2), mRNA.	374					sex differentiation|signal transduction	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(2)|stomach(2)	22			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			ACAGCTGGCATTTGAAGCTCT	0.393													C	76522320	T	C	76522320	3	2	181	1	0	0	0	0	1	0	0	0	3184	1493	52	3	372	3	CDKL2	4	76522320	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		76522320	114631956	23	12541											
THAP9	79725	broad.mit.edu	37	chr4	83825996	83825996	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	accaggtgctatactgtgttCcaaacattttcaagaaagtg	13	12	8	8	0	1	1	1	0	0	1	2	1	2	1	2	1	3	2	2	1	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:83825996C>G	uc003hnt.2	+	1	307	c.188C>G	c.(187-189)tCc>tGc	p.S63C	THAP9_uc003hns.1_5'UTR|THAP9_uc003hnu.1_Non-coding_Transcript|THAP9_uc003hnv.2_5'UTR	NM_024672	NP_078948	Q9H5L6	THAP9_HUMAN	Homo sapiens THAP domain containing 9 (THAP9), mRNA.	63							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATACTGTGTTCCAAACATTTT	0.403													G	83825996	C	G	83825996	3	3	181	1	0	0	0	0	1	0	0	0	15951	855	30	4	194	4	THAP9	4	83825996	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	7303676	83825996	107328280	24	12542											
GK	2713	broad.mit.edu	37	chr4	166199810	166199810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagattgtctcttagccagcGaataacagcaccagctatag	14	9	8	10	1	1	1	0	0	1	1	2	2	1	1	2	0	5	2	2	0	6	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:166199810G>A	uc003ird.3	-	0	1366	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	KLHL2_uc003irb.3_Intron|KLHL2_uc011cjm.2_Intron|KLHL2_uc003irc.3_Intron|KLHL2_uc010ira.3_Intron	NM_000167	NP_000158	P32189	GLPK_HUMAN	Homo sapiens glycerol kinase (GK), transcript variant 2, mRNA.	336					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						CTTAGCCAGCGAATAACAGCA	0.428													A	166199810	G	A	166199810	3	1	181	1	0	0	0	0	1	0	0	0	6476	1073	37	1		1	GK	4	166199810	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	82373814	166199810	24954466	25	12543											
DDX60L	91351	broad.mit.edu	37	chr4	169279395	169279395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaggactacattgtcaCgcttattttcacatagttca	11	14	6	10	1	3	0	3	0	0	0	3	1	3	1	1	1	2	2	1	1	3	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr4:169279395C>T	uc021xuh.1	-	36	5134	c.5024G>A	c.(5023-5025)cGt>cAt	p.R1675H	DDX60L_uc003irq.4_Missense_Mutation_p.R1675H	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like (DDX60L), mRNA.	1675							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TACATTGTCACGCTTATTTTC	0.269													T	169279395	C	T	169279395	3	4	181	1	0	0	0	0	1	0	0	0	4413	536	19	1	100	1	DDX60L	4	169279395	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	3079585	169279395	21874881	26	12544											
MYO10	4651	broad.mit.edu	37	chr5	16877810	16877810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctctcagccagacccGtgttccctgtaaacaaaaca	12	11	5	13	1	2	1	1	0	1	1	4	1	3	1	3	0	3	2	3	0	4	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:16877810G>A	uc003jft.4	-	1	496	c.28C>T	c.(28-30)Cgg>Tgg	p.R10W	MYO10_uc003jfu.2_Intron|MYO10_uc003jfv.2_Missense_Mutation_p.R10W	NM_012334	NP_036466	Q9HD67	MYO10_HUMAN	Homo sapiens myosin X (MYO10), mRNA.	10	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGCCAGACCCGTGTTCCCTGT	0.438													A	16877810	G	A	16877810	3	1	181	1	0	0	0	0	1	0	0	0	10138	1144	40	1	6308	1	MYO10	5	16877810	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		16877810	164037450	27	12545											
PARP8	79668	broad.mit.edu	37	chr5	50091080	50091080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaatctcagaatggaagaAttatatggactgaaaaatca	19	10	8	4	0	2	3	2	1	1	2	3	5	2	5	0	2	0	1	0	2	8	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:50091080A>G	uc003jon.4	+	12	1439	c.1257A>G	c.(1255-1257)gaA>gaG	p.E419E	PARP8_uc011cpz.2_Silent_p.E311E|PARP8_uc003joo.3_Silent_p.E419E|PARP8_uc003jop.3_Silent_p.E419E	NM_001178055	NP_078891	Q8N3A8	PARP8_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 8 (PARP8), transcript variant 1, mRNA.	419						intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				GAATGGAAGAATTATATGGAC	0.438													G	50091080	A	G	50091080	2	3	181	1	0	0	0	0	0	0	0	1	11541	98	4	3		3	PARP8	5	50091080	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	33213270	50091080	130824180	28	12546											
DDX4	54514	broad.mit.edu	37	chr5	55083703	55083703	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctaccaattttggctcaTatgatgcatgatggaataac	12	13	7	9	0	1	2	1	2	0	0	2	3	2	3	2	2	3	2	2	2	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:55083703T>C	uc003jqg.4	+	14	1146	c.1047T>C	c.(1045-1047)caT>caC	p.H349H	DDX4_uc010ivz.3_Silent_p.H329H|DDX4_uc003jqh.4_Silent_p.H315H|DDX4_uc003jqj.3_Silent_p.H200H	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	349	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGGCTCATATGATGCATG	0.383													C	55083703	T	C	55083703	2	2	181	1	0	0	0	0	0	0	0	1	4394	1403	49	3		3	DDX4	5	55083703	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	4992623	55083703	125831557	29	12547											
MAST4	375449	broad.mit.edu	37	chr5	66460727	66460727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaggtccccatcctactgCcaggagccctggaacagtca	11	6	10	14	0	1	0	1	0	0	0	3	3	3	2	5	3	4	0	5	3	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:66460727C>A	uc021xzk.1	+	28	6028	c.5720C>A	c.(5719-5721)gCc>gAc	p.A1907D	MAST4_uc003jut.2_Missense_Mutation_p.A1718D|MAST4_uc003juw.3_Missense_Mutation_p.A1646D|MAST4_uc003jux.3_5'Flank	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	1910						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CATCCTACTGCCAGGAGCCCT	0.582													A	66460727	C	A	66460727	3	1	181	1	0	0	0	0	1	0	0	0	9402	739	26	4	5964	4	MAST4	5	66460727	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	11377024	66460727	114454533	30	12548											
PIK3R1	5295	broad.mit.edu	37	chr5	67591145	67591145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaaagacgagagaccaaTacttgatgtaagtatttgaa	17	10	10	4	1	0	5	0	3	0	3	0	8	0	5	1	0	1	2	1	0	6	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:67591145T>G	uc003jva.3	+	12	2318	c.1738T>G	c.(1738-1740)Tac>Gac	p.Y580D	PIK3R1_uc003jvc.3_Missense_Mutation_p.Y280D|PIK3R1_uc003jvd.3_Missense_Mutation_p.Y310D|PIK3R1_uc003jve.3_Missense_Mutation_p.Y259D|PIK3R1_uc021xzn.1_Missense_Mutation_p.Y217D|PIK3R1_uc011crb.2_Missense_Mutation_p.Y250D	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	580					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(2)|p.Q579_Y580insDK(2)|p.0?(1)|p.?(1)|p.Q579fs*23(1)|p.Y580fs*1(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GAGAGACCAATACTTGATGTA	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591145	T	G	67591145	3	3	181	1	0	0	0	0	1	0	0	0	11995	1406	49	5	1914	5	PIK3R1	5	67591145	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	1130418	67591145	113324115	31	12549											
PCDHAC2	56145	broad.mit.edu	37	chr5	140182250	140182250	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgcgcaggagaacgccctgGtgtcctactcgctggtggaa	8	7	14	12	4	0	1	0	0	0	1	2	3	1	2	2	4	2	2	2	4	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140182250G>C	uc003lhf.2	+	0	1468	c.1468G>C	c.(1468-1470)Gtg>Ctg	p.V490L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.V490L	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	504	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAACGCCCTGGTGTCCTACTC	0.677													C	140182250	G	C	140182250	3	2	181	1	0	0	0	0	1	0	0	0	11609	1261	44	4		4	PCDHAC2	5	140182250	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	72591105	140182250	40733010	32	12550											
PCDHAC2	56136	broad.mit.edu	37	chr5	140263908	140263908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgagggcgtcggcaggCgctgtgggtccagaagcggc	5	6	19	11	6	0	1	0	0	0	1	4	2	1	1	1	5	1	2	1	5	1	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:140263908C>T	uc003lif.2	+	0	2055	c.2055C>T	c.(2053-2055)ggC>ggT	p.G685G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Silent_p.G685G|PCDHAC2_uc003lid.3_Silent_p.G685G	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	698	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTCGGCAGGCGCTGTGGGTC	0.632													T	140263908	C	T	140263908	2	4	181	1	0	0	0	0	0	0	0	1	11609	755	27	1		1	PCDHAC2	5	140263908	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	81658	140263908	40651352	33	12551											
KIF4B	285643	broad.mit.edu	37	chr5	154393521	154393521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccagatgtgcctttccttCgtgcccggggagactcaggt	5	11	13	12	2	1	2	1	0	0	2	3	3	2	2	4	3	3	0	4	3	0	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:154393521C>T	uc010jih.1	+	0	262	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	34	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCTTTCCTTCGTGCCCGGGG	0.512													T	154393521	C	T	154393521	2	4	181	1	0	0	0	0	0	0	0	1	8362	883	31	1		1	KIF4B	5	154393521	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	14129613	154393521	26521739	34	12552											
ADAMTS2	9509	broad.mit.edu	37	chr5	178579165	178579165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaggtgcacacatagtcCcgtccaaggggggccccttc	7	7	12	15	1	0	0	0	0	0	0	3	0	2	0	5	4	2	1	5	4	2	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr5:178579165C>T	uc003mjw.3	-	9	1709	c.1607G>A	c.(1606-1608)gGg>gAg	p.G536E	ADAMTS2_uc011dgm.2_Missense_Mutation_p.G536E	NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	536	Disintegrin.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		ACACATAGTCCCGTCCAAGGG	0.602													T	178579165	C	T	178579165	3	4	181	1	0	0	0	0	1	0	0	0	265	623	22	2	2155	2	ADAMTS2	5	178579165	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	24185644	178579165	2336095	35	12553											
COL11A2	1302	broad.mit.edu	37	chr6	33132163	33132163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagcaggggtaggagaCgtcctggtgggctgagacgc	8	6	18	9	2	0	3	0	1	0	3	2	5	2	3	2	5	1	3	2	5	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:33132163C>A	uc003ocx.1	-	64	5179	c.4951G>T	c.(4951-4953)Gtc>Ttc	p.V1651F	COL11A2_uc010jul.1_Missense_Mutation_p.V221F|COL11A2_uc003ocy.1_Missense_Mutation_p.V1565F|COL11A2_uc003ocz.1_Missense_Mutation_p.V1544F	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	1651	Fibrillar collagen NC1.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						GGGTAGGAGACGTCCTGGTGG	0.622													A	33132163	C	A	33132163	3	1	181	1	0	0	0	0	1	0	0	0	3699	536	19	4	267	4	COL11A2	6	33132163	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		33132163	137982904	36	12554											
KHDRBS2	202559	broad.mit.edu	37	chr6	62407128	62407128	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataggcatcctcacttacTccatgaccgtagtcatagta	11	12	6	12	1	3	1	3	1	0	0	5	1	5	1	3	1	1	3	3	1	5	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:62407128T>C	uc003peg.2	-	7	1171	c.924A>G	c.(922-924)ggA>ggG	p.G308G		NM_152688	NP_689901	Q5VWX1	KHDR2_HUMAN	Homo sapiens KH domain containing, RNA binding, signal transduction associated 2 (KHDRBS2), mRNA.	308			G -> A (in dbSNP:rs7449840).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CCTCACTTACTCCATGACCGT	0.378													C	62407128	T	C	62407128	2	2	181	1	0	0	0	0	0	0	0	1	8205	1538	54	3		3	KHDRBS2	6	62407128	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	29274965	62407128	108707939	37	12555											
EYS	346007	broad.mit.edu	37	chr6	66094367	66094367	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcaattgctttctcacagTttttttcagtaaatcctgat	9	18	6	8	0	3	1	3	1	1	0	5	1	4	1	1	1	1	3	1	1	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:66094367T>A	uc011dxu.1	-	7	1749	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	EYS_uc003peq.3_Missense_Mutation_p.N404I|EYS_uc003per.1_Missense_Mutation_p.N404I|EYS_uc021zbn.1_Missense_Mutation_p.N404I	NM_001142800	NP_001136272	Q5T1H1	EYS_HUMAN	Homo sapiens eyes shut homolog (Drosophila) (EYS), transcript variant 1, mRNA.	404	EGF-like 5.				response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						TTTCTCACAGTTTTTTTCAGT	0.284													A	66094367	T	A	66094367	3	1	181	1	0	0	0	0	1	0	0	0	5374	1725	60	5	8329	5	EYS	6	66094367	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	3687239	66094367	105020700	38	12556											
NT5E	4907	broad.mit.edu	37	chr6	86203654	86203654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagttttccacaggaagtCactgccatggaagcttttct	10	13	8	10	0	3	0	2	0	1	0	4	2	4	2	2	2	2	2	2	2	3	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:86203654C>T	uc003pko.4	+	8	2213	c.1657C>T	c.(1657-1659)Cac>Tac	p.H553Y	NT5E_uc010kbr.3_Missense_Mutation_p.H503Y	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	553					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	CACAGGAAGTCACTGCCATGG	0.363													T	86203654	C	T	86203654	3	4	181	1	0	0	0	0	1	0	0	0	10769	826	29	2	1691	2	NT5E	6	86203654	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	20109287	86203654	84911413	39	12557											
ROS1	6098	broad.mit.edu	37	chr6	117715327	117715327	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacttctcggactaaccaGttcatccatgatgaaataca	14	12	5	10	1	2	2	1	2	1	0	4	3	3	3	2	1	3	1	2	1	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:117715327G>C	uc003pxp.1	-	9	1361	c.1162C>G	c.(1162-1164)Ctg>Gtg	p.L388V	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	388					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GGACTAACCAGTTCATCCATG	0.323			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								C	117715327	G	C	117715327	3	2	181	1	0	0	0	0	1	0	0	0	13622	1020	36	4	6017	4	ROS1	6	117715327	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	31511673	117715327	53399740	40	12558											
CLVS2	134829	broad.mit.edu	37	chr6	123319281	123319281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcaggaagattctagTcctttttgctgccaattggg	8	14	11	8	0	1	1	0	0	1	1	2	2	2	2	2	3	2	2	2	3	4	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:123319281T>C	uc003pzi.1	+	1	1228	c.359T>C	c.(358-360)gTc>gCc	p.V120A		NM_001010852	NP_001010852	Q5SYC1	CLVS2_HUMAN	Homo sapiens clavesin 2 (CLVS2), mRNA.	120	CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						AAGATTCTAGTCCTTTTTGCT	0.483													C	123319281	T	C	123319281	3	2	181	1	0	0	0	0	1	0	0	0	3603	1667	58	3	361	3	CLVS2	6	123319281	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	5603954	123319281	47795786	41	12559											
KIAA1244	57221	broad.mit.edu	37	chr6	138638494	138638494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatttactctttgagctgttGagagatgtgacgaaaacacc	12	12	10	7	1	1	4	0	3	1	1	1	7	1	4	1	0	3	2	1	0	3	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr6:138638494G>C	uc003qhu.3	+	26	4623	c.4452G>C	c.(4450-4452)ttG>ttC	p.L1484F		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	1484					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TTGAGCTGTTGAGAGATGTGA	0.468													C	138638494	G	C	138638494	3	2	181	1	0	0	0	0	1	0	0	0	8275	1281	45	4	4558	4	KIAA1244	6	138638494	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	15319213	138638494	32476573	42	12560											
SP4	6671	broad.mit.edu	37	chr7	21469834	21469834	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccagtatgcaagcacaTcagccagtagttctgaacgc	11	8	10	12	1	2	1	1	1	1	0	2	1	2	1	2	1	4	5	2	1	4	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:21469834T>A	uc003sva.3	+	2	1232	c.1051T>A	c.(1051-1053)Tca>Aca	p.S351T	SP4_uc003svb.3_Missense_Mutation_p.S38T	NM_003112	NP_003103	Q02446	SP4_HUMAN	Homo sapiens Sp4 transcription factor (SP4), mRNA.	351					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						TGCAAGCACATCAGCCAGTAG	0.502													A	21469834	T	A	21469834	3	1	181	1	0	0	0	0	1	0	0	0	15060	1435	50	5	1061	5	SP4	7	21469834	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		21469834	137668829	43	12561											
DYNC1I1	1780	broad.mit.edu	37	chr7	95665015	95665015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagacgtcaataacttcGtggttggcagtgaggaaggt	10	9	16	6	3	1	2	1	1	0	1	2	4	1	3	0	5	1	2	0	5	3	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:95665015G>A	uc003uoc.4	+	12	1643	c.1366G>A	c.(1366-1368)Gtg>Atg	p.V456M	DYNC1I1_uc003uod.4_Missense_Mutation_p.V439M|DYNC1I1_uc003uob.3_Missense_Mutation_p.V419M|DYNC1I1_uc003uoe.4_Missense_Mutation_p.V436M|DYNC1I1_uc010lfl.3_Missense_Mutation_p.V445M	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	456					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAATAACTTCGTGGTTGGCAG	0.473													A	95665015	G	A	95665015	3	1	181	1	0	0	0	0	1	0	0	0	4881	1145	40	1	1412	1	DYNC1I1	7	95665015	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	74195181	95665015	63473648	44	12562											
SLC12A9	56996	broad.mit.edu	37	chr7	100451836	100451836	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccatggccagcgagagctCacctctgctggcctaccggc	7	6	12	16	2	2	1	1	0	1	1	2	2	2	1	5	3	5	2	5	3	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:100451836C>G	uc003uwp.3	+	1	159	c.17C>G	c.(16-18)tCa>tGa	p.S6*	SLC12A9_uc003uwo.1_Nonsense_Mutation_p.S6*|SLC12A9_uc003uwq.3_Nonsense_Mutation_p.S6*|SLC12A9_uc011kki.2_Intron|SLC12A9_uc003uwr.3_5'Flank|SLC12A9_uc003uws.3_5'Flank|SLC12A9_uc003uwt.3_5'Flank	NM_020246	NP_064631	Q9BXP2	S12A9_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporters), member 9 (SLC12A9), mRNA.	6						integral to membrane|plasma membrane	cation:chloride symporter activity	p.S6S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					AGCGAGAGCTCACCTCTGCTG	0.632													G	100451836	C	G	100451836	4	3	181	1	0	0	0	0	0	1	0	0	14484	838	29	4	19	4	SLC12A9	7	100451836	Nonsense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	4786821	100451836	58686827	45	12563											
PLXNA4	91584	broad.mit.edu	37	chr7	131883269	131883269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggatgtaaccatccaCtaaagggctgcactccacgc	11	7	10	13	1	0	0	0	0	0	0	2	1	2	1	3	2	3	4	3	2	3	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr7:131883269C>T	uc003vra.4	-	12	2942	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	905	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane		p.V905M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TAACCATCCACTAAAGGGCTG	0.562													T	131883269	C	T	131883269	3	4	181	1	0	0	0	0	1	0	0	0	12199	565	20	2	3051	2	PLXNA4	7	131883269	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	31431433	131883269	27255394	46	12564											
BLK	640	broad.mit.edu	37	chr8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacgccccgccactgcCgcccctggtgagtgattgcc	6	6	12	17	3	0	2	0	2	0	0	0	3	0	3	7	2	2	0	7	2	1	1	rs142352008	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:11400849C>T	uc003wty.3	+	1	697	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													T	11400849	C	T	11400849	3	4	181	1	0	0	0	0	1	0	0	0	1450	652	23	1	118	1	BLK	8	11400849	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		11400849	134963173	47	12565											
GRHL2	79977	broad.mit.edu	37	chr8	102585963	102585963	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggggagggccccatgAcctacctcaacaaaggacag	13	3	13	12	0	1	1	1	1	0	0	1	3	1	3	4	4	3	1	4	4	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:102585963A>T	uc010mbu.3	+	5	1132	c.802A>T	c.(802-804)Acc>Tcc	p.T268S	GRHL2_uc011lhi.1_Missense_Mutation_p.T268S	NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	268						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			GGGCCCCATGACCTACCTCAA	0.532													T	102585963	A	T	102585963	3	4	181	1	0	0	0	0	1	0	0	0	6819	275	10	5	824	5	GRHL2	8	102585963	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	91185114	102585963	43778059	48	12566											
FER1L6	654463	broad.mit.edu	37	chr8	124992825	124992825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaaggtgtgtcattcagggGcagaatcttggtagaaattg	11	11	15	4	0	3	2	2	0	1	2	3	3	3	3	0	5	0	2	0	5	4	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:124992825G>A	uc003yqw.3	+	10	1390	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D		NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	395						integral to membrane		p.R394K(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCATTCAGGGGCAGAATCTTG	0.507											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	124992825	G	A	124992825	3	1	181	1	0	0	0	0	1	0	0	0	5864	1203	42	2	1222	2	FER1L6	8	124992825	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	22406862	124992825	21371197	49	12567											
CHRAC1	54108	broad.mit.edu	37	chr8	141525277	141525277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaaaatgcttaaagaGgaaaagagggaagaagatga	20	6	12	3	0	0	6	0	2	0	4	0	8	0	8	1	2	2	1	1	2	9	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr8:141525277G>A	uc003yvl.3	+	2	529	c.327G>A	c.(325-327)gaG>gaA	p.E109E	CHRAC1_uc010mem.2_Non-coding_Transcript|CHRAC1_uc022bbv.1_Non-coding_Transcript	NM_017444	NP_059140	Q9NRG0	CHRC1_HUMAN	Homo sapiens chromatin accessibility complex 1 (CHRAC1), transcript variant 1, mRNA.	109					chromatin remodeling	chromatin accessibility complex|epsilon DNA polymerase complex	DNA-directed DNA polymerase activity|sequence-specific DNA binding			ovary(2)	2	all_cancers(97;5.52e-16)|all_epithelial(106;1.22e-13)|Lung NSC(106;4.09e-06)|all_lung(105;6e-06)|Ovarian(258;0.0154)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.107)			TGCTTAAAGAGGAAAAGAGGG	0.353													A	141525277	G	A	141525277	2	1	181	1	0	0	0	0	0	0	0	1	3401	991	35	2		2	CHRAC1	8	141525277	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	16532452	141525277	4838745	50	12568											
TOPORS	10210	broad.mit.edu	37	chr9	32543467	32543467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaactgataaattcatgTataaaatgctcagttcgatt	16	13	6	6	1	2	1	2	1	0	0	3	2	2	1	0	0	2	4	0	0	7	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:32543467T>C	uc003zrb.3	-	2	1248	c.1056A>G	c.(1054-1056)atA>atG	p.I352M	TOPORS_uc003zrc.3_Missense_Mutation_p.I287M	NM_005802	NP_001182551	Q9NS56	TOPRS_HUMAN	Homo sapiens topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase (TOPORS), transcript variant 1, mRNA.	352	Required for DNA-binding.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		TAAATTCATGTATAAAATGCT	0.398													C	32543467	T	C	32543467	3	2	181	1	0	0	0	0	1	0	0	0	16471	1628	57	3	2085	3	TOPORS	9	32543467	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08		32543467	108669964	51	12569											
ZMYND19	116225	broad.mit.edu	37	chr9	140477434	140477434	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accgcactgcagcacacccaCctgcttctcaatcactgtgc	9	8	6	18	1	2	0	2	0	1	0	3	0	2	0	3	0	4	4	3	0	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr9:140477434C>T	uc004cno.1	-	5	762	c.540_splice	c.e5+1	p.Q180_splice		NM_138462	NP_612471	Q96E35	ZMY19_HUMAN	Homo sapiens zinc finger, MYND-type containing 19 (ZMYND19), mRNA.	180						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		AGCACACCCACCTGCTTCTCA	0.587													T	140477434	C	T	140477434	5	4	181	1	0	0	0	0	0	0	1	0	17811	521	18	2	150	2	ZMYND19	9	140477434	Splice_Site	SNP	C	TCGA-26-6174-01A-21D-1845-08	107933967	140477434	735997	52	12570											
ITIH2	3698	broad.mit.edu	37	chr10	7759687	7759687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaggaggtgaagtggaGgaagctgggctcctatgagc	10	7	16	8	0	0	2	0	2	0	0	1	5	1	5	2	5	3	2	2	5	4	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:7759687G>T	uc001ijs.3	+	5	728	c.566G>T	c.(565-567)aGg>aTg	p.R189M		NM_002216	NP_002207	P19823	ITIH2_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 2 (ITIH2), mRNA.	189					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						GTGAAGTGGAGGAAGCTGGGC	0.522													T	7759687	G	T	7759687	3	4	181	1	0	0	0	0	1	0	0	0	7962	1000	35	4	588	4	ITIH2	10	7759687	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		7759687	127775060	53	12571											
CTNNA3	29119	broad.mit.edu	37	chr10	68139038	68139038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatagcacccgcagcaCggtctaaattatcagcatcc	11	9	7	14	2	3	1	1	1	2	0	4	1	4	1	2	1	3	4	2	1	4	3	rs139378888	by1000genomes	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:68139038C>T	uc009xpn.1	-	11	1727	c.1604G>A	c.(1603-1605)cGt>cAt	p.R535H	CTNNA3_uc001jmw.2_Missense_Mutation_p.R535H	NM_001127384	NP_037398	Q9UI47	CTNA3_HUMAN	Homo sapiens catenin (cadherin-associated protein), alpha 3 (CTNNA3), transcript variant 2, mRNA.	535			R -> C (in dbSNP:rs41274090).		cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACCCGCAGCACGGTCTAAATT	0.458													T	68139038	C	T	68139038	3	4	181	1	0	0	0	0	1	0	0	0	4047	536	19	1	1111	1	CTNNA3	10	68139038	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	60379351	68139038	67395709	54	12572											
PTEN	5728	broad.mit.edu	37	chr10	89711915	89711915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcgctatgtgtattattAtagctacctgttaaagaatc	12	14	9	6	1	0	1	0	0	0	1	1	2	0	1	1	1	2	4	1	1	9	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:89711915A>G	uc001kfb.3	+	5	1565	c.533A>G	c.(532-534)tAt>tGt	p.Y178C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	178	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.Y177C(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y178del(2)|p.Y177fs*1(2)|p.Y27fs*1(2)|p.Y177*(2)|p.Y27_N212>Y(2)|p.Y178*(1)|p.G165_*404del(1)|p.V175fs*3(1)|p.Y177fs*2(1)|p.G165_K342del(1)|p.Y178fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTGTATTATTATAGCTACCTG	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89711915	A	G	89711915	3	3	181	1	0	0	0	0	1	0	0	0	12823	449	16	3	555	3	PTEN	10	89711915	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	21572877	89711915	45822832	55	12573											
IFIT2	3433	broad.mit.edu	37	chr10	91066921	91066921	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggtgtaaaaataaaccAgaaatcaagggagaaagaaa	23	4	11	3	0	1	4	1	0	0	4	1	5	1	4	1	2	1	1	1	2	9	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr10:91066921A>T	uc009xts.3	+	1	1383	c.1208A>T	c.(1207-1209)cAg>cTg	p.Q403L	LIPA_uc001kgb.4_Intron|LIPA_uc001kgc.4_Intron|BC040833_uc001kgd.3_Intron	NM_001547	NP_001538	P09913	IFIT2_HUMAN	Homo sapiens interferon-induced protein with tetratricopeptide repeats 2 (IFIT2), mRNA.	403					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAAATAAACCAGAAATCAAGG	0.398													T	91066921	A	T	91066921	3	4	181	1	0	0	0	0	1	0	0	0	7581	188	7	5	1214	5	IFIT2	10	91066921	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	1355006	91066921	44467826	56	12574											
SLC22A18	5002	broad.mit.edu	37	chr11	2939241	2939241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccccgggccagtgtgttcGacctgaaggccatcgcctcc	5	7	12	17	3	0	1	0	1	0	0	3	2	1	1	7	2	0	1	7	2	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:2939241G>A	uc001lwx.3	+	6	897	c.679G>A	c.(679-681)Gac>Aac	p.D227N	SLC22A18_uc001lwy.3_Missense_Mutation_p.D227N	NM_183233	NP_899056	Q96BI1	S22AI_HUMAN	Homo sapiens solute carrier family 22, member 18 (SLC22A18), transcript variant 2, mRNA.	227				D -> E (in Ref. 4; AAB82727 and 6; AAC23505).	excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		CAGTGTGTTCGACCTGAAGGC	0.672													A	2939241	G	A	2939241	3	1	181	1	0	0	0	0	1	0	0	0	14543	1058	37	1	701	1	SLC22A18	11	2939241	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		2939241	132067275	57	12575											
OR4C13	283092	broad.mit.edu	37	chr11	49974296	49974296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaacattttttcagaggtGttgaggtcatcctacttact	10	15	9	7	0	2	3	2	1	0	2	3	4	3	3	1	2	3	1	1	2	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:49974296G>T	uc010rhz.2	+	0	354	c.322G>T	c.(322-324)Gtt>Ttt	p.V108F		NM_001001955	NP_001001955	Q8NGP0	OR4CD_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 13 (OR4C13), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTTCAGAGGTGTTGAGGTCAT	0.423													T	49974296	G	T	49974296	3	4	181	1	0	0	0	0	1	0	0	0	11123	1377	48	4	324	4	OR4C13	11	49974296	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	47035055	49974296	85032220	58	12576											
OR5L1	219437	broad.mit.edu	37	chr11	55579768	55579768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgacaaagtggccaccGtgttctacacagtcgtgatt	10	11	10	10	2	1	2	0	2	1	0	2	2	1	2	2	1	2	2	2	1	2	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:55579768G>A	uc001nhw.1	+	0	826	c.826G>A	c.(826-828)Gtg>Atg	p.V276M		NM_001004738	NP_001004738	Q8NGL2	OR5L1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 1 (OR5L1), mRNA.	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T275N(2)|p.V276V(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				AGTGGCCACCGTGTTCTACAC	0.458													A	55579768	G	A	55579768	3	1	181	1	0	0	0	0	1	0	0	0	11246	1145	40	1	828	1	OR5L1	11	55579768	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	5605472	55579768	79426748	59	12577											
OR5M9	390162	broad.mit.edu	37	chr11	56230082	56230082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccattttgccctgctctaCggattcctcagtgggtctcc	5	13	8	15	1	3	0	1	0	2	0	5	1	4	1	4	2	3	1	4	2	1	4	rs148447943	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:56230082C>T	uc010rjj.2	-	0	796	c.796G>A	c.(796-798)Gta>Ata	p.V266I	OR8U8_uc001nit.2_Intron	NM_001004743	NP_001004743	Q8NGP3	OR5M9_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 9 (OR5M9), mRNA.	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S265F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCTGCTCTACGGATTCCTCA	0.468													T	56230082	C	T	56230082	3	4	181	1	0	0	0	0	1	0	0	0	11253	536	19	1	138	1	OR5M9	11	56230082	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	650314	56230082	78776434	60	12578											
CTTN	2017	broad.mit.edu	37	chr11	70266538	70266538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggaggaaaatttggtGtgcagacagacagacaagac	14	8	14	5	0	0	4	0	0	0	4	0	6	0	6	0	4	1	2	0	4	3	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:70266538G>A	uc001opv.4	+	9	918	c.712G>A	c.(712-714)Gtg>Atg	p.V238M	CTTN_uc001opu.3_Missense_Mutation_p.V238M|CTTN_uc001opw.4_Missense_Mutation_p.V238M|CTTN_uc010rqm.2_5'UTR|CTTN_uc001opx.3_5'Flank	NM_005231	NP_005222	Q14247	SRC8_HUMAN	Homo sapiens cortactin (CTTN), transcript variant 1, mRNA.	238						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		AAAATTTGGTGTGCAGACAGA	0.458													A	70266538	G	A	70266538	3	1	181	1	0	0	0	0	1	0	0	0	4077	1377	48	2	742	2	CTTN	11	70266538	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	14036456	70266538	64739978	61	12579											
APLP2	334	broad.mit.edu	37	chr11	129992408	129992408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaattactcatgatgtcaaaGgtaaccccatgtagagccat	15	10	7	9	0	2	2	2	1	0	1	2	2	2	2	3	1	3	2	3	1	5	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr11:129992408G>A	uc010sby.2	+	6	1079	c.922_splice	c.e6+1	p.A308_splice	APLP2_uc001qfp.3_Splice_Site_p.A308_splice|APLP2_uc001qfq.3_Splice_Site_p.V308_splice|APLP2_uc010sbz.2_Splice_Site_p.V152_splice|APLP2_uc001qfr.3_Splice_Site_p.V130_splice|APLP2_uc001qfs.3_Intron|APLP2_uc021qsg.1_Splice_Site_p.A318_splice|APLP2_uc001qfv.3_Splice_Site_p.V255_splice	NM_001642	NP_001633	Q06481	APLP2_HUMAN	Homo sapiens amyloid beta (A4) precursor-like protein 2 (APLP2), transcript variant 1, mRNA.	308	BPTI/Kunitz inhibitor.				G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		TGATGTCAAAGGTAACCCCAT	0.443													A	129992408	G	A	129992408	3	1	181	1	0	0	0	0	1	0	0	0	782	1014	35	2	944	2	APLP2	11	129992408	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	59725870	129992408	5014108	62	12580											
KRT79	338785	broad.mit.edu	37	chr12	53217702	53217702	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatcagcctccccctgcAgcctctggatagtgcgggtg	5	9	12	15	1	2	0	1	0	1	0	3	1	3	1	4	2	5	2	4	2	1	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:53217702A>G	uc001sbb.3	-	5	1148	c.1115T>C	c.(1114-1116)cTg>cCg	p.L372P	KRT79_uc001sba.3_Missense_Mutation_p.L143P	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	372	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCCCCTGCAGCCTCTGGAT	0.617													G	53217702	A	G	53217702	3	3	181	1	0	0	0	0	1	0	0	0	8550	188	7	3	508	3	KRT79	12	53217702	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		53217702	80634193	63	12581											
PTPRB	5787	broad.mit.edu	37	chr12	70974843	70974843	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctccacaaccacttgtcGggaagagatccctccactca	10	8	6	17	1	1	1	1	0	0	1	6	3	5	2	5	1	1	0	5	1	2	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:70974843G>A	uc001swb.4	-	7	1927	c.1897C>T	c.(1897-1899)Cga>Tga	p.R633*	PTPRB_uc010sto.2_Nonsense_Mutation_p.R633*|PTPRB_uc010stp.2_Nonsense_Mutation_p.R543*|PTPRB_uc001swc.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swa.4_Nonsense_Mutation_p.R851*|PTPRB_uc001swd.4_Nonsense_Mutation_p.R850*|PTPRB_uc009zrr.2_Nonsense_Mutation_p.R730*	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	633	Fibronectin type-III 7.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R633R(2)|p.R851R(1)		breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ACCACTTGTCGGGAAGAGATC	0.468													A	70974843	G	A	70974843	4	1	181	1	0	0	0	0	0	1	0	0	12884	1124	39	1	4196	1	PTPRB	12	70974843	Nonsense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	17757141	70974843	62877052	64	12582											
ANO4	121601	broad.mit.edu	37	chr12	101493475	101493475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgaatgcctatggacTcttcgatgaatacttagaaa	13	11	9	8	2	1	3	0	2	1	1	2	6	1	4	2	1	2	0	2	1	6	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr12:101493475T>C	uc010svm.1	+	21	2698	c.2126T>C	c.(2125-2127)cTc>cCc	p.L709P	ANO4_uc001thw.2_Missense_Mutation_p.L674P|ANO4_uc001thx.2_Missense_Mutation_p.L709P|ANO4_uc001thy.2_Missense_Mutation_p.L229P	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	709						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GCCTATGGACTCTTCGATGAA	0.333										HNSCC(74;0.22)			C	101493475	T	C	101493475	3	2	181	1	0	0	0	0	1	0	0	0	699	1551	54	3	2099	3	ANO4	12	101493475	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	30518632	101493475	32358420	65	12583											
RNF17	56163	broad.mit.edu	37	chr13	25373533	25373533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttccctcattatttagGtgcaagaatatttgtcagca	10	17	7	7	0	2	1	2	0	0	1	3	1	3	1	1	1	2	3	1	1	5	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:25373533G>A	uc001upr.3	+	12	1441	c.1400_splice	c.e12-1	p.G467_splice	RNF17_uc010tdd.1_Splice_Site_p.G326_splice|RNF17_uc010tde.2_Splice_Site_p.G467_splice|RNF17_uc010aab.3_Splice_Site|RNF17_uc001ups.3_Splice_Site_p.G406_splice	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	467			G -> S (in dbSNP:rs9581180).		multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CATTATTTAGGTGCAAGAATA	0.328													A	25373533	G	A	25373533	3	1	181	1	0	0	0	0	1	0	0	0	13552	1275	44	2	1446	2	RNF17	13	25373533	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		25373533	89796345	66	12584											
BRCA2	675	broad.mit.edu	37	chr13	32913746	32913746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctaacagctattcctacCattctgatgaggtatataat	12	15	6	8	0	2	2	0	2	2	0	3	2	3	2	2	1	3	2	2	1	6	8	rs80358749		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:32913746C>A	uc001uub.1	+	10	5481	c.5254C>A	c.(5254-5256)Cat>Aat	p.H1752N		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1752					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTATTCCTACCATTCTGATGA	0.308			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32913746	C	A	32913746	3	1	181	1	0	0	0	0	1	0	0	0	1508	594	21	4	5292	4	BRCA2	13	32913746	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	7540213	32913746	82256132	67	12585											
TNFSF11	8600	broad.mit.edu	37	chr13	43175077	43175077	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagcttgaagctcagccTtttgctcatctcactattaa	11	13	6	11	0	3	1	3	1	1	0	4	1	3	1	1	0	5	4	1	0	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr13:43175077T>A	uc001uyu.2	+	3	641	c.492T>A	c.(490-492)ccT>ccA	p.P164P	TNFSF11_uc001uyt.2_Silent_p.P91P	NM_003701	NP_143026	O14788	TNF11_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 11 (TNFSF11), transcript variant 1, mRNA.	164					immune response|monocyte chemotaxis|osteoclast differentiation|positive regulation of bone resorption|positive regulation of corticotropin-releasing hormone secretion|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of homotypic cell-cell adhesion|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell activation	cytoplasm|extracellular space|integral to plasma membrane	cytokine activity|receptor activity|tumor necrosis factor receptor binding			kidney(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	10		Lung NSC(96;1.11e-05)|Breast(139;0.00868)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000249)|GBM - Glioblastoma multiforme(144;0.00119)|BRCA - Breast invasive adenocarcinoma(63;0.073)		AAGCTCAGCCTTTTGCTCATC	0.428													A	43175077	T	A	43175077	2	1	181	1	0	0	0	0	0	0	0	1	16402	1596	56	5		5	TNFSF11	13	43175077	Silent	SNP	T	TCGA-26-6174-01A-21D-1845-08	10261331	43175077	71994801	68	12586											
OR4M1	441670	broad.mit.edu	37	chr14	20249338	20249338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatattccctttacttaatcCcattatttacacattgagaa	14	16	2	9	0	0	1	0	1	0	1	2	2	2	1	2	0	2	0	2	0	7	9			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:20249338C>T	uc010tku.2	+	0	857	c.857C>T	c.(856-858)cCc>cTc	p.P286L		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTACTTAATCCCATTATTTAC	0.363													T	20249338	C	T	20249338	3	4	181	1	0	0	0	0	1	0	0	0	11151	623	22	2	859	2	OR4M1	14	20249338	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		20249338	87100202	69	12587											
CHD8	57680	broad.mit.edu	37	chr14	21897227	21897227	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggacagagtcactggctGggtggagggtggctgctggg	7	7	21	6	0	1	2	1	0	0	2	1	4	1	4	0	7	1	3	0	7	0	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:21897227G>C	uc001war.2	-	1	1176	c.1111C>G	c.(1111-1113)Cag>Gag	p.Q371E	CHD8_uc001was.2_Missense_Mutation_p.Q92E	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	371	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTCACTGGCTGGGTGGAGGGT	0.547													C	21897227	G	C	21897227	3	2	181	1	0	0	0	0	1	0	0	0	3361	1357	47	4	6778	4	CHD8	14	21897227	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	1647889	21897227	85452313	70	12588											
SLC35F4	341880	broad.mit.edu	37	chr14	58063582	58063582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgcctcccactggtcaGtttgtggaagagatccaaga	10	9	11	11	0	1	2	1	0	0	2	3	4	3	3	3	2	2	2	3	2	2	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:58063582G>C	uc021rtp.1	-						SLC35F4_uc010aoz.1_Non-coding_Transcript|SLC35F4_uc010apa.1_5'UTR	NM_001206920	NP_001193849			Homo sapiens solute carrier family 35, member F4 (SLC35F4), mRNA.											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCACTGGTCAGTTTGTGGAAG	0.428													C	58063582	G	C	58063582	3	2	181	1	0	0	0	0	1	0	0	0	14685	1020	36	4	1563	4	SLC35F4	14	58063582	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	36166355	58063582	49285958	71	12589											
ATG2B	55102	broad.mit.edu	37	chr14	96779478	96779478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacggtaagaagagatcggaTtggcaaataaaggggtctaa	16	7	13	5	2	1	2	0	0	1	2	2	4	1	3	0	5	0	2	0	5	6	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr14:96779478T>C	uc001yfi.3	-	24	4131	c.3766A>G	c.(3766-3768)Atc>Gtc	p.I1256V		NM_018036	NP_060506	Q96BY7	ATG2B_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog B (S. cerevisiae) (ATG2B), mRNA.	1256										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGAGATCGGATTGGCAAATAA	0.378													C	96779478	T	C	96779478	3	2	181	1	0	0	0	0	1	0	0	0	1099	1493	52	3	2542	3	ATG2B	14	96779478	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	38715896	96779478	10570062	72	12590											
FAM81A	145773	broad.mit.edu	37	chr15	59752269	59752269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtagagcacgcctttcGgattaaagatgacattgtca	11	11	9	10	3	1	3	1	1	0	2	3	4	1	4	2	1	1	2	2	1	3	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:59752269G>A	uc002agc.2	+	2	345	c.158G>A	c.(157-159)cGg>cAg	p.R53Q	FAM81A_uc010uha.2_Missense_Mutation_p.R53Q	NM_152450	NP_689663	Q8TBF8	FA81A_HUMAN	Homo sapiens family with sequence similarity 81, member A (FAM81A), mRNA.	53										endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10						CACGCCTTTCGGATTAAAGAT	0.502													A	59752269	G	A	59752269	3	1	181	1	0	0	0	0	1	0	0	0	5678	1116	39	1	164	1	FAM81A	15	59752269	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		59752269	42779123	73	12591											
MAN2A2	4122	broad.mit.edu	37	chr15	91452684	91452684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggatgcccagttcttcaacTaccaacggctctttgacttc	8	12	8	13	1	3	1	1	1	2	0	4	2	3	2	2	2	4	2	2	2	3	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:91452684T>C	uc010bnz.2	+	8	1439	c.1324T>C	c.(1324-1326)Tac>Cac	p.Y442H	MAN2A2_uc010boa.3_Missense_Mutation_p.Y484H|MAN2A2_uc002bqc.3_Missense_Mutation_p.Y442H|MAN2A2_uc010uql.2_Missense_Mutation_p.Y146H|MAN2A2_uc010uqm.2_Silent_p.T88T|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	442					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GTTCTTCAACTACCAACGGCT	0.567													C	91452684	T	C	91452684	3	2	181	1	0	0	0	0	1	0	0	0	9290	1522	53	3	1354	3	MAN2A2	15	91452684	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	31700415	91452684	11078708	74	12592											
SPATA8	145946	broad.mit.edu	37	chr15	97326893	97326893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcatgaggaatggcccCggctgggatgtcaggggccc	8	5	18	10	1	1	1	1	1	0	0	1	3	1	3	3	7	0	2	3	7	2	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr15:97326893C>T	uc002bue.3	+	0	215	c.8C>T	c.(7-9)cCg>cTg	p.P3L	DQ596112_uc021swx.1_5'Flank|DQ574554_uc021swy.1_5'Flank|DQ593500_uc010uro.1_5'Flank|DQ573064_uc021swz.1_5'Flank|DQ588115_uc021sxa.1_5'Flank|DQ591967_uc021sxb.1_5'Flank|DQ585716_uc021sxc.1_5'Flank|DQ570416_uc021sxd.1_5'Flank|DQ576557_uc010urp.2_5'Flank|DQ593900_uc021sxe.1_5'Flank|DQ594674_uc021sxf.1_5'Flank|DQ599954_uc002bud.2_5'Flank	NM_173499	NP_775770	Q6RVD6	SPAT8_HUMAN	Homo sapiens spermatogenesis associated 8 (SPATA8), mRNA.	3										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GGAATGGCCCCGGCTGGGATG	0.567													T	97326893	C	T	97326893	3	4	181	1	0	0	0	0	1	0	0	0	15111	652	23	1	10	1	SPATA8	15	97326893	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	5874209	97326893	5204499	75	12593											
PDILT	204474	broad.mit.edu	37	chr16	20373885	20373885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaacagcatcttgcaCtttttagaccagggtgcatc	10	11	11	9	0	1	1	0	0	1	1	2	2	1	2	1	2	4	3	1	2	2	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:20373885C>G	uc002dhc.1	-	9	1480	c.1257G>C	c.(1255-1257)aaG>aaC	p.K419N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	419	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCATCTTGCACTTTTTAGACC	0.473													G	20373885	C	G	20373885	3	3	181	1	0	0	0	0	1	0	0	0	11750	564	20	4	509	4	PDILT	16	20373885	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08		20373885	69980868	76	12594											
ERN2	10595	broad.mit.edu	37	chr16	23712369	23712369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccagccccaagtaagAgtctggagttttttcttctg	7	13	11	10	0	3	1	0	0	3	1	4	2	4	2	3	2	1	2	3	2	2	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:23712369A>G	uc002dma.4	-	11	1583	c.1414T>C	c.(1414-1416)Tct>Cct	p.S472P	ERN2_uc010bxp.3_Intron|ERN2_uc010bxq.1_Missense_Mutation_p.S280P	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	424				FAH -> TAD (in Ref. 1; BAB21297).	apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		CCCAAGTAAGAGTCTGGAGTT	0.562													G	23712369	A	G	23712369	3	3	181	1	0	0	0	0	1	0	0	0	5279	304	11	3	1554	3	ERN2	16	23712369	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	3338484	23712369	66642384	77	12595											
PRKCB	5579	broad.mit.edu	37	chr16	24202548	24202548	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcccccttataagccaaaAgctgtaagtagcccattctc	12	9	6	14	0	1	0	0	0	1	0	2	0	1	0	4	0	4	3	4	0	6	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:24202548A>G	uc002dmd.3	+	15	2057	c.1860A>G	c.(1858-1860)aaA>aaG	p.K620K	PRKCB_uc002dme.3_Silent_p.K620K	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	620	AGC-kinase C-terminal.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	ATAAGCCAAAAGCTGTAAGTA	0.473													G	24202548	A	G	24202548	2	3	181	1	0	0	0	0	0	0	0	1	12594	69	3	3		3	PRKCB	16	24202548	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	490179	24202548	66152205	78	12596											
LPCAT2	54947	broad.mit.edu	37	chr16	55543215	55543215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcccgccgccggtgcCgaaccccttcgtgcagcaga	5	8	10	18	5	1	1	0	0	1	1	3	2	2	1	6	1	4	2	6	1	1	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:55543215C>T	uc002eie.4	+	0	303	c.122C>T	c.(121-123)cCg>cTg	p.P41L		NM_017839	NP_060309	Q7L5N7	PCAT2_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 2 (LPCAT2), mRNA.	41					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						CCGCCGGTGCCGAACCCCTTC	0.726													T	55543215	C	T	55543215	3	4	181	1	0	0	0	0	1	0	0	0	8981	652	23	1	124	1	LPCAT2	16	55543215	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	31340667	55543215	34811538	79	12597											
C16orf46	123775	broad.mit.edu	37	chr16	81095126	81095126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggaggatggcgtgtcGttgaccatagggtgtttggc	7	10	19	5	2	0	1	0	1	0	0	1	4	0	3	1	6	0	2	1	6	2	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:81095126G>A	uc002fgc.4	-	3	1087	c.828C>T	c.(826-828)aaC>aaT	p.N276N	C16orf46_uc010chf.3_Silent_p.N276N|C16orf46_uc010vno.2_Silent_p.N3N	NM_152337	NP_689550	Q6P387	CP046_HUMAN	Homo sapiens chromosome 16 open reading frame 46 (C16orf46), transcript variant 2, mRNA.	276										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						ATGGCGTGTCGTTGACCATAG	0.552													A	81095126	G	A	81095126	2	1	181	1	0	0	0	0	0	0	0	1	1829	1136	40	1		1	C16orf46	16	81095126	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	25551911	81095126	9259627	80	12598											
KIAA0513	9764	broad.mit.edu	37	chr16	85120720	85120720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttggactgaacaagaaGctgtgcaatgacttcctgaa	12	10	10	9	0	0	4	0	3	0	1	1	5	1	5	2	1	3	2	2	1	5	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr16:85120720G>A	uc002fiu.3	+	11	1354	c.1134G>A	c.(1132-1134)aaG>aaA	p.K378K	KIAA0513_uc010voj.2_Silent_p.K368K	NM_014732	NP_055547	O60268	K0513_HUMAN	Homo sapiens KIAA0513 (KIAA0513), mRNA.	378						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAACAAGAAGCTGTGCAATG	0.612											OREG0023994	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	85120720	G	A	85120720	2	1	181	1	0	0	0	0	0	0	0	1	8239	962	34	2		2	KIAA0513	16	85120720	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	4025594	85120720	5234033	81	12599											
SENP3	26168	broad.mit.edu	37	chr17	7466491	7466491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaggcgggagcgtcttcGttggcccccacctcccaaac	6	7	10	18	3	1	0	0	0	1	0	4	1	3	1	5	3	2	1	5	3	1	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7466491G>A	uc002ghm.3	+	1	381	c.98G>A	c.(97-99)cGt>cAt	p.R33H	EIF4A1_uc002gho.2_5'UTR|SENP3_uc002ghn.1_5'Flank	NM_015670	NP_056485	Q9H4L4	SENP3_HUMAN	Homo sapiens SUMO1/sentrin/SMT3 specific peptidase 3 (SENP3), mRNA.	33	Pro-rich.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GAGCGTCTTCGTTGGCCCCCA	0.637													A	7466491	G	A	7466491	3	1	181	1	0	0	0	0	1	0	0	0	14141	1145	40	1	100	1	SENP3	17	7466491	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		7466491	73728719	82	12600											
ALOX15B	247	broad.mit.edu	37	chr17	7948185	7948185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggaggacgccttcttcGcctcccagttcctgaatggt	6	10	12	13	2	1	1	0	1	1	0	4	3	3	3	4	4	0	2	4	4	1	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:7948185G>A	uc002gju.3	+	5	831	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	ALOX15B_uc002gjv.3_Missense_Mutation_p.A239T|ALOX15B_uc002gjw.3_Missense_Mutation_p.A239T|ALOX15B_uc010vun.2_Missense_Mutation_p.A239T|ALOX15B_uc010cnp.3_Missense_Mutation_p.A45T	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	239	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						CGCCTTCTTCGCCTCCCAGTT	0.607													A	7948185	G	A	7948185	3	1	181	1	0	0	0	0	1	0	0	0	539	1087	38	1	737	1	ALOX15B	17	7948185	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	481694	7948185	73247025	83	12601											
KRT24	192666	broad.mit.edu	37	chr17	38859417	38859417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacccaggcccatatttgtCataccactccttgattttgt	9	14	6	12	0	1	2	1	1	0	1	2	2	2	2	4	1	1	0	4	1	2	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:38859417C>T	uc002hvd.3	-	0	586	c.529G>A	c.(529-531)Gac>Aac	p.D177N		NM_019016	NP_061889	Q2M2I5	K1C24_HUMAN	Homo sapiens keratin 24 (KRT24), mRNA.	177	Linker 1.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CCATATTTGTCATACCACTCC	0.458													T	38859417	C	T	38859417	3	4	181	1	0	0	0	0	1	0	0	0	8519	826	29	2	1080	2	KRT24	17	38859417	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	30911232	38859417	42335793	84	12602											
ABCA6	23460	broad.mit.edu	37	chr17	67079124	67079124	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtaatccttgccaagtttGtttttcaggtgttggatgga	8	17	11	5	0	1	0	1	0	0	0	2	2	2	2	2	3	1	4	2	3	2	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr17:67079124G>C	uc002jhw.1	-	35	4681	c.4506C>G	c.(4504-4506)aaC>aaG	p.N1502K		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1502	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGCCAAGTTTGTTTTTCAGGT	0.378													C	67079124	G	C	67079124	3	2	181	1	0	0	0	0	1	0	0	0	36	1368	48	4	363	4	ABCA6	17	67079124	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	28219707	67079124	14116086	85	12603											
ZNF236	7776	broad.mit.edu	37	chr18	74625839	74625839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggggtcctcaagtcccacGagaagacacacacaggtcac	12	5	10	14	1	2	2	2	0	0	2	4	3	4	2	2	3	0	0	2	3	2	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr18:74625839G>A	uc002lmi.3	+	17	3238	c.3040G>A	c.(3040-3042)Gag>Aag	p.E1014K	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1014					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CAAGTCCCACGAGAAGACACA	0.483													A	74625839	G	A	74625839	3	1	181	1	0	0	0	0	1	0	0	0	17890	1059	37	1	3110	1	ZNF236	18	74625839	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		74625839	3451409	86	12604											
PTPRS	5802	broad.mit.edu	37	chr19	5221104	5221104	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgggcttgccgttgagcAggttgaaggcagtccaggcg	6	8	17	10	3	0	2	0	2	0	0	1	2	1	2	2	4	2	6	2	4	1	3			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:5221104A>C	uc002mbv.3	-	19	3596	c.3362T>G	c.(3361-3363)cTg>cGg	p.L1121R	PTPRS_uc002mbu.1_Missense_Mutation_p.L690R|PTPRS_uc010xin.2_Missense_Mutation_p.L690R|PTPRS_uc002mbw.3_Missense_Mutation_p.L1099R|PTPRS_uc002mbx.3_Missense_Mutation_p.L694R|PTPRS_uc002mby.3_Missense_Mutation_p.L690R	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	1121					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCCGTTGAGCAGGTTGAAGGC	0.622													C	5221104	A	C	5221104	3	2	181	1	0	0	0	0	1	0	0	0	12899	188	7	5	2560	5	PTPRS	19	5221104	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08		5221104	53907879	87	12605											
ZNF99	7652	broad.mit.edu	37	chr19	22940690	22940690	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacatttgtagggtttcTcttcagtatgaattacttta	9	19	6	7	0	3	1	2	1	1	0	4	1	3	1	0	1	1	3	0	1	5	9			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:22940690T>C	uc021urt.1	-	3	2176	c.2021A>G	c.(2020-2022)gAg>gGg	p.E674G		NM_001080409	NP_001073878			Homo sapiens zinc finger protein 99 (ZNF99), mRNA.											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GTAGGGTTTCTCTTCAGTATG	0.358													C	22940690	T	C	22940690	3	2	181	1	0	0	0	0	1	0	0	0	18303	1551	54	3	1376	3	ZNF99	19	22940690	Missense_Mutation	SNP	T	TCGA-26-6174-01A-21D-1845-08	17719586	22940690	36188293	88	12606											
ZNF347	84671	broad.mit.edu	37	chr19	53645135	53645135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactcattacatttgtaacGtttttcgccagtatggatca	11	15	6	9	2	2	0	2	0	0	0	3	1	2	1	1	1	2	3	1	1	3	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:53645135G>A	uc002qbc.2	-	4	1376	c.949C>T	c.(949-951)Cgt>Tgt	p.R317C	ZNF347_uc002qbb.2_Missense_Mutation_p.R316C|ZNF347_uc010eql.2_Missense_Mutation_p.R317C	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CATTTGTAACGTTTTTCGCCA	0.373													A	53645135	G	A	53645135	3	1	181	1	0	0	0	0	1	0	0	0	17962	1145	40	1	1577	1	ZNF347	19	53645135	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	30704445	53645135	5483848	89	12607											
LILRA4	23547	broad.mit.edu	37	chr19	54850352	54850352	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagaagagcaggcttgtgaGaatgagggtcatggcatctc	13	8	14	6	0	2	4	1	2	1	3	3	5	2	4	0	3	1	3	0	3	3	1			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr19:54850352G>C	uc002qfj.3	-	0	70	c.13C>G	c.(13-15)Ctc>Gtc	p.L5V	LILRA4_uc002qfi.3_5'UTR	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	5						integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		AGGCTTGTGAGAATGAGGGTC	0.567													C	54850352	G	C	54850352	3	2	181	1	0	0	0	0	1	0	0	0	8847	942	33	4	1518	4	LILRA4	19	54850352	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	1205217	54850352	4278631	90	12608											
REM1	28954	broad.mit.edu	37	chr20	30065686	30065686	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagacaccacactggtggtCgtggacacctgggaggccga	10	5	15	11	2	0	1	0	0	0	1	1	5	0	3	3	5	0	0	3	5	1	0	rs147559982		TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chr20:30065686C>T	uc002wwa.3	+	2	680	c.396C>T	c.(394-396)gtC>gtT	p.V132V		NM_014012	NP_054731	O75628	REM1_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP-binding 1 (REM1), mRNA.	132					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity			kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			CACTGGTGGTCGTGGACACCT	0.572													T	30065686	C	T	30065686	2	4	181	1	0	0	0	0	0	0	0	1	13310	871	31	1		1	REM1	20	30065686	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08		30065686	32959834	91	12609											
PORCN	64840	broad.mit.edu	37	chrX	48371104	48371104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacggtgaccgcctccttcGcaagtgagcacagccttcga	9	7	10	15	4	0	2	0	2	0	0	3	3	1	2	4	1	3	2	4	1	2	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48371104G>A	uc010nie.1	+	5	841	c.683G>A	c.(682-684)cGc>cAc	p.R228H	PORCN_uc004djr.1_Missense_Mutation_p.R228H|PORCN_uc004djs.1_Missense_Mutation_p.R228H|PORCN_uc011mlx.1_Missense_Mutation_p.R157H|PORCN_uc004dju.1_Missense_Mutation_p.R97H|PORCN_uc004djv.1_Missense_Mutation_p.R228H|PORCN_uc004djw.1_Missense_Mutation_p.R228H	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	228			R -> C (in a patient with focal dermal hypoplasia also carrying a frameshift mutation; uncertain pathological significance).		Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTCCTTCGCAAGTGAGCA	0.622													A	48371104	G	A	48371104	3	1	181	1	0	0	0	0	1	0	0	0	12335	1087	38	1	701	1	PORCN	23	48371104	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08		48371104	106899456	92	12610											
PQBP1	10084	broad.mit.edu	37	chrX	48759746	48759746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagagggcaaagaacggCgccaccatcgccgggaggag	12	1	18	10	4	0	2	0	0	0	2	1	5	0	5	3	5	1	1	3	5	3	0			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:48759746C>T	uc004dlh.3	+	4	638	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	PQBP1_uc022bvv.1_Missense_Mutation_p.R169C|PQBP1_uc004dle.3_Missense_Mutation_p.R177C|PQBP1_uc004dlf.3_Missense_Mutation_p.R177C|PQBP1_uc004dlg.3_Missense_Mutation_p.R177C|PQBP1_uc004dln.3_Missense_Mutation_p.R177C|PQBP1_uc004dlk.3_Intron|PQBP1_uc004dli.3_Missense_Mutation_p.R177C|PQBP1_uc004dlj.1_Missense_Mutation_p.R177C|PQBP1_uc004dlm.3_Missense_Mutation_p.R135C|PQBP1_uc010nii.3_Missense_Mutation_p.R135C|PQBP1_uc004dll.3_Intron|PQBP1_uc022bvw.1_Non-coding_Transcript|PQBP1_uc022bvx.1_Intron|PQBP1_uc010nij.3_Missense_Mutation_p.R77C	NM_001032384	NP_005701	O60828	PQBP1_HUMAN	Homo sapiens polyglutamine binding protein 1 (PQBP1), transcript variant 5, mRNA.	177	Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	11						CAAAGAACGGCGCCACCATCG	0.612													T	48759746	C	T	48759746	3	4	181	1	0	0	0	0	1	0	0	0	12499	768	27	1	543	1	PQBP1	23	48759746	Missense_Mutation	SNP	C	TCGA-26-6174-01A-21D-1845-08	388642	48759746	106510814	93	12611											
CHM	1121	broad.mit.edu	37	chrX	85156121	85156121	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgagcacatgttctcaggAaagtaactgtcctccacgag	11	9	10	11	2	1	1	1	1	1	0	4	3	3	2	2	1	2	3	2	1	2	2			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:85156121A>T	uc004eet.3	-	9	1347	c.1317T>A	c.(1315-1317)ttT>ttA	p.F439L	CHM_uc011mqz.2_Missense_Mutation_p.F291L	NM_000390	NP_000381	P24386	RAE1_HUMAN	Homo sapiens choroideremia (Rab escort protein 1) (CHM), transcript variant 1, mRNA.	439					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGTTCTCAGGAAAGTAACTGT	0.393													T	85156121	A	T	85156121	3	4	181	1	0	0	0	0	1	0	0	0	3380	243	9	5	668	5	CHM	23	85156121	Missense_Mutation	SNP	A	TCGA-26-6174-01A-21D-1845-08	36396375	85156121	70114439	94	12612											
CXorf61	203413	broad.mit.edu	37	chrX	115592953	115592953	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacctctgaaacccttgctAagtagagtatgttccagttc	10	12	8	11	0	1	2	0	1	1	1	3	2	2	2	3	0	2	6	3	0	4	6			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:115592953A>C	uc004eqj.1	-	1	417	c.297T>G	c.(295-297)ctT>ctG	p.L99L		NM_001017978	NP_001017978	Q5H943	KKLC1_HUMAN	Homo sapiens chromosome X open reading frame 61 (CXorf61), mRNA.	99						integral to membrane|plasma membrane				breast(1)|large_intestine(3)|lung(8)	12						AACCCTTGCTAAGTAGAGTAT	0.418													C	115592953	A	C	115592953	2	2	181	1	0	0	0	0	0	0	0	1	4149	349	13	5		5	CXorf61	23	115592953	Silent	SNP	A	TCGA-26-6174-01A-21D-1845-08	30436832	115592953	39677607	95	12613											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825762	135825762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accactggatttaatttcacGgacataattactggggaacc	13	11	8	9	1	1	0	1	0	0	0	1	3	1	3	2	4	2	0	2	4	4	5			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:135825762G>A	uc004fab.3	-	4	1105	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARHGEF6_uc011mwd.2_Missense_Mutation_p.R61C|ARHGEF6_uc011mwe.2_Missense_Mutation_p.R61C	NM_004840	NP_004831	Q15052	ARHG6_HUMAN	Homo sapiens Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6 (ARHGEF6), mRNA.	215	SH3.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.R215H(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TTAATTTCACGGACATAATTA	0.388													A	135825762	G	A	135825762	3	1	181	1	0	0	0	0	1	0	0	0	913	1116	39	1	1759	1	ARHGEF6	23	135825762	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	20232809	135825762	19444798	96	12614											
MCF2	4168	broad.mit.edu	37	chrX	138668562	138668562	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttctgcctgaactgaCgcaattgcctcacagacctc	8	12	7	14	1	2	3	1	2	1	1	3	3	2	3	3	0	4	2	3	0	2	3	rs142128026	byFrequency	TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:138668562C>T	uc011mwn.1	-						MCF2_uc004fav.3_Silent_p.A885A|MCF2_uc004fau.3_Silent_p.A869A|MCF2_uc010nsh.2_Intron|MCF2_uc011mwm.2_Intron|MCF2_uc011mwl.2_Silent_p.A846A|MCF2_uc011mwo.1_Silent_p.A945A|MCF2_uc004faw.2_Silent_p.A929A	NM_001171878	NP_001165349	P10911	MCF2_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence (MCF2), transcript variant 5, mRNA.						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTGAACTGACGCAATTGCCT	0.413													T	138668562	C	T	138668562	2	4	181	1	0	0	0	0	0	0	0	1	9453	523	19	1		1	MCF2	23	138668562	Silent	SNP	C	TCGA-26-6174-01A-21D-1845-08	2842800	138668562	16601998	97	12615											
IDS	3423	broad.mit.edu	37	chrX	148564457	148564457	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatagtctatggtgcgtatGgaatagcccatgatctttat	10	15	9	7	1	2	1	0	1	2	0	2	2	2	2	1	2	2	1	1	2	7	7			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:148564457G>T	uc011mxe.2	-	8	1690	c.1473C>A	c.(1471-1473)tcC>tcA	p.S491S	IDS_uc011mxd.2_Silent_p.S94S|IDS_uc011mxf.2_Silent_p.S401S|IDS_uc011mxg.2_Silent_p.S280S|IDS_uc010nsu.2_Silent_p.S101S|IDS_uc004fcw.4_Silent_p.S280S	NM_000202	NP_000193	P22304	IDS_HUMAN	Homo sapiens iduronate 2-sulfatase (IDS), transcript variant 1, mRNA.	491			S -> F (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGGTGCGTATGGAATAGCCCA	0.433													T	148564457	G	T	148564457	2	4	181	1	0	0	0	0	0	0	0	1	7561	1335	47	4		4	IDS	23	148564457	Silent	SNP	G	TCGA-26-6174-01A-21D-1845-08	9895895	148564457	6706103	98	12616											
DKC1	1736	broad.mit.edu	37	chrX	154001511	154001511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacttaccctcggaagtgggGtttaggtccaaaggtaagtg	10	10	13	8	1	0	0	0	0	0	0	2	1	1	1	2	5	1	2	2	5	5	4			TCGA-26-6174-01A-21D-1845-08	TCGA-26-6174-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ba04f15-48f4-4851-a21f-8fa7cc9eac6b	59389092-6f21-4cb4-b44e-b0ac30d38963	g.chrX:154001511G>C	uc004fmm.3	+	10	1352	c.1142G>C	c.(1141-1143)gGt>gCt	p.G381A	DKC1_uc010nvf.3_Missense_Mutation_p.G381A|SNORA56_uc004fmo.3_5'Flank	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	381					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CGGAAGTGGGGTTTAGGTCCA	0.408									Congenital Dyskeratosis				C	154001511	G	C	154001511	3	2	181	1	0	0	0	0	1	0	0	0	4581	1261	44	4	1184	4	DKC1	23	154001511	Missense_Mutation	SNP	G	TCGA-26-6174-01A-21D-1845-08	5437054	154001511	1269049	99	12617											
COL16A1	1307	broad.mit.edu	37	chr1	32163660	32163660	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acactcagcatcagcttgtgCcaacgcaagtcgaagagctg	12	7	10	12	2	2	1	2	0	0	1	3	2	2	1	1	0	5	4	1	0	3	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:32163660C>T	uc001btk.1	-	5	869	c.504G>A	c.(502-504)tgG>tgA	p.W168*	COL16A1_uc001btj.1_5'UTR|COL16A1_uc001btl.4_Nonsense_Mutation_p.W168*	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	168	TSP N-terminal.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	p.R167S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TCAGCTTGTGCCAACGCAAGT	0.642													T	32163660	C	T	32163660	4	4	182	1	0	0	0	0	0	1	0	0	3704	740	26	2	4574	2	COL16A1	1	32163660	Nonsense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		32163660	217086961	1	12618											
FGGY	55277	broad.mit.edu	37	chr1	59805657	59805657	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagggattgatttaaacCaaattcgaggacttgggttt	13	13	10	5	1	0	1	0	1	0	0	1	4	0	3	1	3	2	1	1	3	5	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:59805657C>T	uc009wac.3	+	2	441	c.229C>T	c.(229-231)Caa>Taa	p.Q77*	FGGY_uc001czg.2_Intron|FGGY_uc001czh.2_Non-coding_Transcript|FGGY_uc001czi.4_Nonsense_Mutation_p.Q77*|FGGY_uc001czl.4_Intron	NM_001113411	NP_001106882	Q96C11	FGGY_HUMAN	Homo sapiens FGGY carbohydrate kinase domain containing (FGGY), transcript variant 1, mRNA.	77					carbohydrate metabolic process|cell death|neuron homeostasis		kinase activity|phosphotransferase activity, alcohol group as acceptor			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					TGATTTAAACCAAATTCGAGG	0.363													T	59805657	C	T	59805657	4	4	182	1	0	0	0	0	0	1	0	0	5920	595	21	2	235	2	FGGY	1	59805657	Nonsense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	27641997	59805657	189444964	2	12619											
MSH4	4438	broad.mit.edu	37	chr1	76349367	76349367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatcctattcttgaaaaAatatctgcggaaaaacctat	15	12	6	8	1	2	1	0	1	2	0	3	2	3	2	2	2	2	1	2	2	8	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:76349367A>T	uc001dhd.2	+	14	2083	c.1968A>T	c.(1966-1968)aaA>aaT	p.K656N		NM_002440	NP_002431	O15457	MSH4_HUMAN	Homo sapiens mutS homolog 4 (E. coli) (MSH4), mRNA.	656					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						TTCTTGAAAAAATATCTGCGG	0.313								Mismatch excision repair (MMR)					T	76349367	A	T	76349367	3	4	182	1	0	0	0	0	1	0	0	0	9948	11	1	5	2026	5	MSH4	1	76349367	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	16543710	76349367	172901254	3	12620											
SYCP1	6847	broad.mit.edu	37	chr1	115487554	115487554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaaagaaattgataagcGatgtcaacataaaatagctg	20	8	8	5	1	1	3	1	1	0	2	1	4	1	3	0	0	3	1	0	0	7	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:115487554G>A	uc001efr.3	+	24	2314	c.2105G>A	c.(2104-2106)cGa>cAa	p.R702Q	SYCP1_uc010owt.2_Non-coding_Transcript|SYCP1_uc001efq.3_Missense_Mutation_p.R702Q|SYCP1_uc009wgw.3_Missense_Mutation_p.R702Q	NM_003176	NP_003167	Q15431	SYCP1_HUMAN	Homo sapiens synaptonemal complex protein 1 (SYCP1), mRNA.	702					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding	p.R702*(1)	RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTGATAAGCGATGTCAACAT	0.254													A	115487554	G	A	115487554	3	1	182	1	0	0	0	0	1	0	0	0	15528	1058	37	1	2199	1	SYCP1	1	115487554	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	39138187	115487554	133763067	4	12621											
PTGFRN	5738	broad.mit.edu	37	chr1	117484643	117484643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaccaaggccactacaaatGttcaacccccagcacagatg	15	5	7	14	0	1	2	1	0	0	2	1	2	1	2	4	1	3	2	4	1	4	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:117484643G>T	uc001egv.1	+	1	493	c.356G>T	c.(355-357)tGt>tTt	p.C119F		NM_020440	NP_065173	Q9P2B2	FPRP_HUMAN	Homo sapiens prostaglandin F2 receptor negative regulator (PTGFRN), mRNA.	119	Ig-like C2-type 1.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CACTACAAATGTTCAACCCCC	0.562													T	117484643	G	T	117484643	3	4	182	1	0	0	0	0	1	0	0	0	12836	1377	48	4	362	4	PTGFRN	1	117484643	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	1997089	117484643	131765978	5	12622											
CR2	1380	broad.mit.edu	37	chr1	207649599	207649599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccttcatagggtgtccacctCcgcctaagacccctaacggg	8	8	9	16	2	1	1	1	0	0	1	3	1	3	1	7	2	1	0	7	2	3	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr1:207649599C>T	uc001hfw.3	+	13	2679	c.2560C>T	c.(2560-2562)Ccg>Tcg	p.P854S	CR2_uc001hfv.3_Missense_Mutation_p.P913S|CR2_uc009xch.3_Intron	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	854	Sushi 14.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GTGTCCACCTCCGCCTAAGAC	0.493													T	207649599	C	T	207649599	3	4	182	1	0	0	0	0	1	0	0	0	3873	855	30	2	2795	2	CR2	1	207649599	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	90164956	207649599	41601022	6	12623											
SOS1	6654	broad.mit.edu	37	chr2	39262448	39262448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttgaaaccttcgcctaTtgactggaaaaaaaagtgat	14	13	7	7	1	1	3	0	3	1	0	2	4	1	4	2	1	1	0	2	1	6	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:39262448T>C	uc002rrk.4	-	7	1020	c.979A>G	c.(979-981)Ata>Gta	p.I327V	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_5'UTR|SOS1_uc002rrl.3_Missense_Mutation_p.I59V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	327	DH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CCTTCGCCTATTGACTGGAAA	0.338									Noonan syndrome				C	39262448	T	C	39262448	3	2	182	1	0	0	0	0	1	0	0	0	15030	1493	52	3	3086	3	SOS1	2	39262448	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08		39262448	203936925	7	12624											
SLC4A5	57835	broad.mit.edu	37	chr2	74462257	74462257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actgggcacatgcagcttggGagtttctaggccaaaacagg	11	8	13	9	0	1	0	0	0	1	0	1	1	1	1	1	4	3	4	1	4	3	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:74462257G>C	uc002sko.1	-	16	2406	c.2404C>G	c.(2404-2406)Ccc>Gcc	p.P802A	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.P802A|SLC4A5_uc010ffc.1_Missense_Mutation_p.P802A|SLC4A5_uc002skp.1_Intron|SLC4A5_uc002sks.1_Intron	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	802						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						TGCAGCTTGGGAGTTTCTAGG	0.547													C	74462257	G	C	74462257	3	2	182	1	0	0	0	0	1	0	0	0	14751	1174	41	4	1049	4	SLC4A5	2	74462257	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	35199809	74462257	168737116	8	12625											
LRP2	4036	broad.mit.edu	37	chr2	170092415	170092415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaagtccatgtaatcaaGataggagtccatgaagtaga	18	8	9	6	0	1	3	1	1	0	2	3	4	3	4	2	1	0	2	2	1	7	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:170092415G>A	uc002ues.3	-	28	5068	c.4855C>T	c.(4855-4857)Ctt>Ttt	p.L1619F		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	1619					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGTAATCAAGATAGGAGTCC	0.453													A	170092415	G	A	170092415	3	1	182	1	0	0	0	0	1	0	0	0	9026	942	33	2	9316	2	LRP2	2	170092415	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	95630158	170092415	73106958	9	12626											
TTN	7273	broad.mit.edu	37	chr2	179410964	179410964	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttgaccatgacagacacGgccttggtcccgctggcatt	8	10	10	13	2	0	3	0	2	0	1	1	3	1	3	3	3	0	2	3	3	0	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179410964G>A	uc021vsy.1	-	290	87615	c.87390C>T	c.(87388-87390)gcC>gcT	p.A29130A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.A22825A|TTN_uc021vta.1_Silent_p.A22758A|TTN_uc021vtb.1_Silent_p.A22633A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30057	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGACAGACACGGCCTTGGTCC	0.428													A	179410964	G	A	179410964	2	1	182	1	0	0	0	0	0	0	0	1	16837	1103	39	1		1	TTN	2	179410964	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	9318549	179410964	63788409	10	12627											
TTN	7273	broad.mit.edu	37	chr2	179462736	179462736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgtagaatgctccttccTttaatcctgtcacaacaagc	11	14	5	11	0	1	1	1	0	0	1	4	1	4	1	3	0	3	2	3	0	5	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:179462736T>A	uc021vsy.1	-	241	49682	c.49457A>T	c.(49456-49458)aAg>aTg	p.K16486M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.K10181M|TTN_uc021vta.1_Missense_Mutation_p.K10114M|TTN_uc021vtb.1_Missense_Mutation_p.K9989M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17413	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCCTTCCTTTAATCCTGT	0.383													A	179462736	T	A	179462736	3	1	182	1	0	0	0	0	1	0	0	0	16837	1609	56	5	50812	5	TTN	2	179462736	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08	51772	179462736	63736637	11	12628											
MAP2	4133	broad.mit.edu	37	chr2	210518141	210518141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggagagctgacctcagctGacagagaaacagcaggtaac	15	4	12	10	1	1	4	1	2	0	2	1	6	1	4	1	2	5	4	1	2	2	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr2:210518141G>C	uc002vde.1	+	3	495	c.247G>C	c.(247-249)Gac>Cac	p.D83H	MAP2_uc002vdc.1_Missense_Mutation_p.D83H|MAP2_uc002vdd.1_Missense_Mutation_p.D83H|MAP2_uc002vdf.1_Missense_Mutation_p.D83H|MAP2_uc002vdg.1_Missense_Mutation_p.D83H|MAP2_uc002vdh.1_Missense_Mutation_p.D83H|MAP2_uc002vdi.1_Missense_Mutation_p.D83H	NM_002374	NP_002365	P11137	MAP2_HUMAN	Homo sapiens microtubule-associated protein 2 (MAP2), transcript variant 1, mRNA.	83					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GACCTCAGCTGACAGAGAAAC	0.463													C	210518141	G	C	210518141	3	2	182	1	0	0	0	0	1	0	0	0	9310	1290	45	4	249	4	MAP2	2	210518141	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	31055405	210518141	32681232	12	12629											
ST3GAL6	10402	broad.mit.edu	37	chr3	98506930	98506930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagttgggagaaggaCaaccttccgacttttttatc	13	11	10	7	1	0	3	0	0	0	3	2	6	1	4	2	2	1	1	2	2	5	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:98506930C>T	uc003dtc.3	+	7	949	c.482C>T	c.(481-483)aCa>aTa	p.T161I	ST3GAL6_uc003dsy.3_Missense_Mutation_p.T75I|ST3GAL6_uc003dsz.3_Missense_Mutation_p.T161I|ST3GAL6_uc003dta.3_Missense_Mutation_p.T43I|ST3GAL6_uc010hpd.3_Missense_Mutation_p.T214I	NM_006100	NP_006091	Q9Y274	SIA10_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 6 (ST3GAL6), mRNA.	161					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GGGAGAAGGACAACCTTCCGA	0.378													T	98506930	C	T	98506930	3	4	182	1	0	0	0	0	1	0	0	0	15315	478	17	2	504	2	ST3GAL6	3	98506930	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		98506930	99515500	13	12630											
MYLK	4638	broad.mit.edu	37	chr3	123457797	123457797	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgatcttgcaggagaatcGtcccatctgtccttctttga	8	14	9	10	1	3	3	0	2	3	1	6	4	5	3	2	1	1	1	2	1	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr3:123457797G>A	uc003ego.3	-	6	817	c.535C>T	c.(535-537)Cga>Tga	p.R179*	MYLK_uc011bjw.2_Nonsense_Mutation_p.R179*|MYLK_uc003egp.3_Nonsense_Mutation_p.R179*|MYLK_uc003egq.3_Nonsense_Mutation_p.R179*|MYLK_uc003egr.3_Nonsense_Mutation_p.R179*|MYLK_uc003egs.3_Nonsense_Mutation_p.R3*|MYLK_uc010hrs.1_Nonsense_Mutation_p.R179*	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	179	Ig-like C2-type 2.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAGGAGAATCGTCCCATCTGT	0.582													A	123457797	G	A	123457797	4	1	182	1	0	0	0	0	0	1	0	0	10132	1153	40	1	5321	1	MYLK	3	123457797	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	24950867	123457797	74564633	14	12631											
DCUN1D4	23142	broad.mit.edu	37	chr4	52765498	52765498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatcattcttaaatgattCtacaaactttaaacttattt	16	17	2	6	0	3	2	1	1	2	1	3	2	3	2	0	0	3	0	0	0	8	8			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:52765498C>G	uc011bzo.2	+	7	708	c.701C>G	c.(700-702)tCt>tGt	p.S234C	DCUN1D4_uc003gze.3_Missense_Mutation_p.S190C|DCUN1D4_uc003gzf.3_Missense_Mutation_p.S190C|DCUN1D4_uc011bzn.2_Missense_Mutation_p.S130C|DCUN1D4_uc003gzg.3_Non-coding_Transcript|DCUN1D4_uc003gzh.3_Non-coding_Transcript	NM_001040402	NP_001035492	Q92564	DCNL4_HUMAN	Homo sapiens DCN1, defective in cullin neddylation 1, domain containing 4 (S. cerevisiae) (DCUN1D4), transcript variant 1, mRNA.	190	DCUN1.							p.P233S(1)		endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			TTAAATGATTCTACAAACTTT	0.348													G	52765498	C	G	52765498	3	3	182	1	0	0	0	0	1	0	0	0	4350	913	32	4	599	4	DCUN1D4	4	52765498	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		52765498	138388778	15	12632											
EPHA5	2044	broad.mit.edu	37	chr4	66233108	66233108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatgcatcttttcctcttCtggatcttgttttgctttgc	6	20	6	9	0	4	0	0	0	4	0	5	1	5	1	1	1	3	3	1	1	2	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:66233108C>T	uc003hcy.3	-	9	2084	c.1891G>A	c.(1891-1893)Gaa>Aaa	p.E631K	EPHA5_uc003hcx.3_Missense_Mutation_p.E563K|EPHA5_uc003hcz.3_Missense_Mutation_p.E609K|EPHA5_uc011cah.2_Missense_Mutation_p.E632K|EPHA5_uc011cai.2_Missense_Mutation_p.E610K|EPHA5_uc003hda.2_Missense_Mutation_p.E632K	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	631					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TTTTCCTCTTCTGGATCTTGT	0.358										TSP Lung(17;0.13)			T	66233108	C	T	66233108	3	4	182	1	0	0	0	0	1	0	0	0	5211	922	32	2	1258	2	EPHA5	4	66233108	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	13467610	66233108	124921168	16	12633											
SULT1B1	27284	broad.mit.edu	37	chr4	70596362	70596362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcattcaggttcttctctAgaaatctaatgatcttcttg	10	17	5	9	0	7	2	2	1	5	1	8	2	7	2	0	1	0	1	0	1	3	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596362A>G	uc003hen.3	-	6	933	c.635T>C	c.(634-636)cTa>cCa	p.L212P		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	212					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GTTCTTCTCTAGAAATCTAAT	0.338													G	70596362	A	G	70596362	3	3	182	1	0	0	0	0	1	0	0	0	15472	420	15	3	263	3	SULT1B1	4	70596362	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	4363254	70596362	120557914	17	12634			1	31		2	2	22	A		4.070113e-05
SULT1B1	27284	broad.mit.edu	37	chr4	70596383	70596383	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatctaatgatcttcttgAtttcctcctttggattctat	9	19	5	8	0	4	2	0	2	4	0	6	4	6	3	2	1	0	0	2	1	3	7			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:70596383A>C	uc003hen.3	-	6	912	c.614T>G	c.(613-615)aTc>aGc	p.I205S		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	205					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						GATCTTCTTGATTTCCTCCTT	0.328													C	70596383	A	C	70596383	3	2	182	1	0	0	0	0	1	0	0	0	15472	333	12	5	284	5	SULT1B1	4	70596383	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	21	70596383	120557893	18	12635			1	31		2	2	22	A		4.070113e-05
TACR3	6870	broad.mit.edu	37	chr4	104510963	104510963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgttgctcttttcttcCgactggacctggtggtgtct	2	17	12	10	2	3	0	0	0	3	0	4	2	4	1	2	4	1	2	2	4	0	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:104510963C>T	uc003hxe.1	-	4	1415	c.1274G>A	c.(1273-1275)cGg>cAg	p.R425Q		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	425						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		TCTTTTCTTCCGACTGGACCT	0.502													T	104510963	C	T	104510963	3	4	182	1	0	0	0	0	1	0	0	0	15604	652	23	1	127	1	TACR3	4	104510963	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	33914580	104510963	86643313	19	12636											
NDST3	9348	broad.mit.edu	37	chr4	119064755	119064755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttcactcacaccattttCtacaaagaatatccaggggg	12	12	6	11	0	3	1	2	0	1	1	4	1	4	1	2	2	1	0	2	2	4	6			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr4:119064755C>T	uc003ibx.3	+	5	1858	c.1455C>T	c.(1453-1455)ttC>ttT	p.F485F	NDST3_uc011cgf.1_Silent_p.F404F	NM_004784	NP_004775	O95803	NDST3_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3 (NDST3), mRNA.	485	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						ACACCATTTTCTACAAAGAAT	0.383													T	119064755	C	T	119064755	2	4	182	1	0	0	0	0	0	0	0	1	10333	912	32	2		2	NDST3	4	119064755	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	14553792	119064755	72089521	20	12637											
DNAH5	1767	broad.mit.edu	37	chr5	13841162	13841162	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgattagttttctgcatgatTtttttatcaaacttggcatt	9	21	6	5	0	2	2	1	2	1	0	2	2	2	2	0	1	2	3	0	1	3	9			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:13841162T>A	uc003jfd.2	-	33	5604	c.5562A>T	c.(5560-5562)aaA>aaT	p.K1854N		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1854	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.K1853N(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTGCATGATTTTTTTATCAA	0.398									Kartagener syndrome				A	13841162	T	A	13841162	3	1	182	1	0	0	0	0	1	0	0	0	4643	1838	64	5	8496	5	DNAH5	5	13841162	Missense_Mutation	SNP	T	TCGA-27-1830-01A-01W-0643-08		13841162	167074098	21	12638											
MCCC2	64087	broad.mit.edu	37	chr5	70945048	70945048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggggctcctatggagcCggaaactatgggatgtgtgg	8	10	17	6	1	0	0	0	0	0	0	1	3	1	3	2	6	2	1	2	6	3	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:70945048C>T	uc003kbs.4	+	13	1479	c.1341C>T	c.(1339-1341)gcC>gcT	p.A447A	MCCC2_uc003kbt.4_Non-coding_Transcript	NM_022132	NP_071415	Q9HCC0	MCCB_HUMAN	Homo sapiens methylcrotonoyl-CoA carboxylase 2 (beta) (MCCC2), nuclear gene encoding mitochondrial protein, mRNA.	447	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CCTATGGAGCCGGAAACTATG	0.463													T	70945048	C	T	70945048	2	4	182	1	0	0	0	0	0	0	0	1	9450	639	23	1		1	MCCC2	5	70945048	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	57103886	70945048	109970212	22	12639											
SLC22A5	6584	broad.mit.edu	37	chr5	131729366	131729366	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctccgtctgctttgccatAggtgcctacgaccgcttcct	4	12	10	15	3	1	0	0	0	1	0	3	1	3	0	5	2	4	3	5	2	2	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:131729366A>G	uc003kwx.4	+	10	1787	c.1523_splice	c.e10-2	p.G508_splice	SLC22A5_uc003kww.4_Splice_Site_p.G484_splice|SLC22A5_uc010jdr.1_Splice_Site_p.G104_splice	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	484			F -> L.		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTTTGCCATAGGTGCCTACG	0.562													G	131729366	A	G	131729366	5	3	182	1	0	0	0	0	0	0	1	0	14551	434	15	3	1483	3	SLC22A5	5	131729366	Splice_Site	SNP	A	TCGA-27-1830-01A-01W-0643-08	60784318	131729366	49185894	23	12640											
MAT2B	27430	broad.mit.edu	37	chr5	162945327	162945327	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaaagaatcactttggccTttcctcattgacaagagatg	13	12	7	9	0	3	3	3	1	0	2	4	4	4	3	2	1	0	0	2	1	3	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr5:162945327T>G	uc003lzk.3	+	6	1071	c.963T>G	c.(961-963)ccT>ccG	p.P321P	MAT2B_uc003lzj.3_Silent_p.P310P|MAT2B_uc003lzl.1_3'UTR|MAT2B_uc003lzm.3_Silent_p.P61P	NM_013283	NP_037415	Q9NZL9	MAT2B_HUMAN	Homo sapiens methionine adenosyltransferase II, beta (MAT2B), transcript variant 1, mRNA.	321					extracellular polysaccharide biosynthetic process|methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol|methionine adenosyltransferase complex|nucleus	dTDP-4-dehydrorhamnose reductase activity|methionine adenosyltransferase regulator activity|protein binding	p.T320M(1)		endometrium(3)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)	14	Renal(175;0.000281)	Medulloblastoma(196;0.0208)|all_neural(177;0.0765)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.027)|OV - Ovarian serous cystadenocarcinoma(192;0.0406)|Epithelial(171;0.0797)	L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CACTTTGGCCTTTCCTCATTG	0.388													G	162945327	T	G	162945327	2	3	182	1	0	0	0	0	0	0	0	1	9406	1596	56	5		5	MAT2B	5	162945327	Silent	SNP	T	TCGA-27-1830-01A-01W-0643-08	31215961	162945327	17969933	24	12641											
PKHD1	5314	broad.mit.edu	37	chr6	51941121	51941121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaacgatgggtgtctgcGccttggaaaactgtttagaa	10	11	14	6	2	1	2	0	1	1	1	1	4	1	3	1	3	3	1	1	3	5	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:51941121G>A	uc003pah.1	-	5	677	c.401C>T	c.(400-402)gCg>gTg	p.A134V	PKHD1_uc003pai.3_Missense_Mutation_p.A134V	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	134					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A134V(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTGTCTGCGCCTTGGAAAA	0.393													A	51941121	G	A	51941121	3	1	182	1	0	0	0	0	1	0	0	0	12048	1087	38	1	12110	1	PKHD1	6	51941121	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		51941121	119173946	25	12642											
IBTK	25998	broad.mit.edu	37	chr6	82924066	82924066	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctcttctgcctctcactAactgtttgagcttgattact	6	18	6	11	0	3	2	1	2	3	0	4	2	3	2	1	0	5	3	1	0	2	6			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:82924066A>C	uc003pjl.1	-	11	2609	c.2082T>G	c.(2080-2082)gtT>gtG	p.V694V	IBTK_uc011dyv.1_Silent_p.V694V|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Silent_p.V388V|IBTK_uc003pjm.2_Silent_p.V694V	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	694					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCCTCTCACTAACTGTTTGAG	0.338													C	82924066	A	C	82924066	2	2	182	1	0	0	0	0	0	0	0	1	7534	349	13	5		5	IBTK	6	82924066	Silent	SNP	A	TCGA-27-1830-01A-01W-0643-08	30982945	82924066	88191001	26	12643											
SESN1	27244	broad.mit.edu	37	chr6	109319765	109319765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcatccacactgtgattgCcatttgtaatgtcacagatg	10	14	7	10	0	2	2	2	1	1	1	4	2	3	2	2	0	1	1	2	0	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr6:109319765C>T	uc003psu.3	-	4	1355	c.923G>A	c.(922-924)gGc>gAc	p.G308D	SESN1_uc021zdp.1_Missense_Mutation_p.G183D|SESN1_uc003pst.4_Missense_Mutation_p.G249D	NM_014454	NP_001186863	Q9Y6P5	SESN1_HUMAN	Homo sapiens sestrin 1 (SESN1), transcript variant 1, mRNA.	249					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		ACTGTGATTGCCATTTGTAAT	0.398													T	109319765	C	T	109319765	3	4	182	1	0	0	0	0	1	0	0	0	14217	739	26	2	756	2	SESN1	6	109319765	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	26395699	109319765	61795302	27	12644											
ZNF804B	219578	broad.mit.edu	37	chr7	88966247	88966247	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcctttaatccaaccagtAttccaaggtcaagatttttg	13	14	5	9	0	1	1	1	0	0	1	4	1	4	1	4	1	1	1	4	1	6	6			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:88966247A>G	uc011khi.2	+	3	4489	c.3951A>G	c.(3949-3951)gtA>gtG	p.V1317V		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1317						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TCCAACCAGTATTCCAAGGTC	0.413										HNSCC(36;0.09)			G	88966247	A	G	88966247	2	3	182	1	0	0	0	0	0	0	0	1	18270	436	16	3		3	ZNF804B	7	88966247	Silent	SNP	A	TCGA-27-1830-01A-01W-0643-08		88966247	70172416	28	12645											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518248	113518248	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtttagactcaggataagGgtgcttctcaataccctgga	11	11	11	8	0	2	1	2	0	1	1	3	3	2	3	1	4	2	2	1	4	4	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:113518248G>T	uc010ljy.1	-	3	2930	c.2899C>A	c.(2899-2901)Cct>Act	p.P967T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	967					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TCAGGATAAGGGTGCTTCTCA	0.383													T	113518248	G	T	113518248	3	4	182	1	0	0	0	0	1	0	0	0	12453	1232	43	4	473	4	PPP1R3A	7	113518248	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	24552001	113518248	45620415	29	12646											
PLXNA4	91584	broad.mit.edu	37	chr7	131866156	131866156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctttaggatgatgggcGtgccaggcttgagctccagg	7	9	14	11	1	0	2	0	2	0	0	1	3	1	3	4	4	2	2	4	4	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:131866156G>A	uc003vra.4	-	17	3705	c.3476C>T	c.(3475-3477)aCg>aTg	p.T1159M		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1159	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane		p.T1159M(2)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GATGATGGGCGTGCCAGGCTT	0.582													A	131866156	G	A	131866156	3	1	182	1	0	0	0	0	1	0	0	0	12199	1145	40	1	2268	1	PLXNA4	7	131866156	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	18347908	131866156	27272507	30	12647											
GIMAP8	155038	broad.mit.edu	37	chr7	150171329	150171329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgatcattgatgctccGgacatctcatctttaaagaa	11	14	7	9	2	3	2	2	1	2	1	6	4	4	3	1	1	1	2	1	1	3	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr7:150171329G>A	uc003whj.3	+	3	1242	c.912G>A	c.(910-912)ccG>ccA	p.P304P		NM_175571	NP_783161	Q8ND71	GIMA8_HUMAN	Homo sapiens GTPase, IMAP family member 8 (GIMAP8), mRNA.	304						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TTGATGCTCCGGACATCTCAT	0.458													A	150171329	G	A	150171329	2	1	182	1	0	0	0	0	0	0	0	1	6441	1103	39	1		1	GIMAP8	7	150171329	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	18305173	150171329	8967334	31	12648											
TEX15	56154	broad.mit.edu	37	chr8	30702861	30702861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatttattacttcattagCgtcacaactgttttctttag	9	20	4	8	1	4	0	3	0	1	0	4	0	4	0	0	0	3	1	0	0	5	10			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:30702861C>T	uc003xil.3	-	0	3673	c.3673G>A	c.(3673-3675)Gct>Act	p.A1225T		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1225										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		ACTTCATTAGCGTCACAACTG	0.299													T	30702861	C	T	30702861	3	4	182	1	0	0	0	0	1	0	0	0	15879	768	27	1	4712	1	TEX15	8	30702861	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		30702861	115661161	32	12649											
FAM135B	51059	broad.mit.edu	37	chr8	139209806	139209806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgcatgatcaccaggAagtggagacggagaccccgg	10	5	14	12	3	1	3	1	1	0	2	2	6	2	4	4	4	0	1	4	4	1	0			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr8:139209806A>G	uc003yuy.3	-	7	947	c.776T>C	c.(775-777)tTc>tCc	p.F259S	FAM135B_uc003yux.3_Missense_Mutation_p.F160S|FAM135B_uc003yuz.3_Non-coding_Transcript	NM_015912	NP_056996	Q49AJ0	F135B_HUMAN	Homo sapiens family with sequence similarity 135, member B (FAM135B), mRNA.	259										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			GATCACCAGGAAGTGGAGACG	0.612										HNSCC(54;0.14)			G	139209806	A	G	139209806	3	3	182	1	0	0	0	0	1	0	0	0	5494	246	9	3	3496	3	FAM135B	8	139209806	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08	108506945	139209806	7154216	33	12650											
ZNF79	7633	broad.mit.edu	37	chr9	130206381	130206381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccaagacccatgtgtagaGatgccccctggggattcaga	10	9	11	11	0	1	3	1	0	0	3	2	5	2	4	4	2	1	1	4	2	2	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr9:130206381G>C	uc004bqw.4	+	4	816	c.402G>C	c.(400-402)gaG>gaC	p.E134D	ZNF79_uc011maf.2_Missense_Mutation_p.E110D|ZNF79_uc011mag.2_Missense_Mutation_p.E110D	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CATGTGTAGAGATGCCCCCTG	0.502													C	130206381	G	C	130206381	3	2	182	1	0	0	0	0	1	0	0	0	18260	933	33	4	420	4	ZNF79	9	130206381	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		130206381	11007050	34	12651											
ANK3	288	broad.mit.edu	37	chr10	61836046	61836046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacggagaagctgatggCgtattagaggaagaacttga	14	10	13	4	2	0	5	0	2	0	3	0	7	0	6	0	3	3	2	0	3	6	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:61836046C>T	uc001jky.3	-	36	4931	c.4593G>A	c.(4591-4593)acG>acA	p.T1531T	ANK3_uc001jkw.3_Intron|ANK3_uc009xpa.3_Intron|ANK3_uc001jkx.3_Intron|ANK3_uc010qih.2_Intron|ANK3_uc001jkz.4_Intron|ANK3_uc001jkv.3_Intron|ANK3_uc009xpb.1_Intron	NM_020987	NP_066267	Q12955	ANK3_HUMAN	Homo sapiens ankyrin 3, node of Ranvier (ankyrin G) (ANK3), transcript variant 1, mRNA.	1531	Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGCTGATGGCGTATTAGAGG	0.443													T	61836046	C	T	61836046	2	4	182	1	0	0	0	0	0	0	0	1	622	755	27	1		1	ANK3	10	61836046	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		61836046	73698701	35	12652											
TLL2	7093	broad.mit.edu	37	chr10	98157009	98157009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggaactccacccagagccGgctgtccgtggagacgaggg	8	4	16	13	4	0	2	0	0	0	2	2	5	2	3	4	4	2	1	4	4	1	0			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr10:98157009G>A	uc001kml.2	-	10	1559	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	TLL2_uc009xvf.2_Missense_Mutation_p.R418W	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	440	CUB 1.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R440R(1)		NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		ACCCAGAGCCGGCTGTCCGTG	0.587													A	98157009	G	A	98157009	3	1	182	1	0	0	0	0	1	0	0	0	16046	1115	39	1	1773	1	TLL2	10	98157009	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	36320963	98157009	37377738	36	12653											
RAG1	5896	broad.mit.edu	37	chr11	36596877	36596877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagacgctgactgccatcCtgagtcctctcattgctgag	8	10	10	13	2	1	4	1	3	1	1	4	5	3	4	3	0	2	2	3	0	0	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:36596877C>T	uc021qgb.1	+	0	2023	c.2023C>T	c.(2023-2025)Ctg>Ttg	p.L675L	RAG1_uc001mwt.3_Non-coding_Transcript|RAG1_uc001mwu.4_Silent_p.L675L	NM_000448	NP_000439	P15918	RAG1_HUMAN	Homo sapiens recombination activating gene 1 (RAG1), mRNA.	675					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GACTGCCATCCTGAGTCCTCT	0.498									Familial Hemophagocytic Lymphohistiocytosis				T	36596877	C	T	36596877	2	4	182	1	0	0	0	0	0	0	0	1	13091	680	24	2		2	RAG1	11	36596877	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		36596877	98409639	37	12654											
FOLH1	2346	broad.mit.edu	37	chr11	49186293	49186293	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccaagctgtacatcagCggtgtacaatcaactctcag	12	10	8	11	1	3	0	3	0	1	0	4	0	3	0	1	1	6	4	1	1	6	3	rs141224157	by1000genomes	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr11:49186293C>T	uc001ngy.3	-	12	1665	c.1404G>A	c.(1402-1404)ccG>ccA	p.P468P	FOLH1_uc009yly.3_Silent_p.P453P|FOLH1_uc009ylz.3_Silent_p.P453P|FOLH1_uc001ngz.3_Silent_p.P468P|FOLH1_uc009yma.3_Silent_p.P160P	NM_004476	NP_001180402	Q04609	FOLH1_HUMAN	Homo sapiens folate hydrolase (prostate-specific membrane antigen) 1 (FOLH1), transcript variant 1, mRNA.	468	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	TGTACATCAGCGGTGTACAAT	0.284													T	49186293	C	T	49186293	2	4	182	1	0	0	0	0	0	0	0	1	6028	755	27	1		1	FOLH1	11	49186293	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	12589416	49186293	85820223	38	12655											
VWF	7450	broad.mit.edu	37	chr12	6127888	6127888	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctggtagcggatctctcGcacccgctgcaggatgtccc	5	8	12	16	3	1	0	0	0	1	0	4	2	2	2	3	3	2	4	3	3	1	1	rs61750112		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:6127888G>A	uc001qnn.1	-	27	4946	c.4696C>T	c.(4696-4698)Cga>Tga	p.R1566*	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1566	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CGGATCTCTCGCACCCGCTGC	0.622													A	6127888	G	A	6127888	4	1	182	1	0	0	0	0	0	1	0	0	17348	1095	38	1	3845	1	VWF	12	6127888	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08		6127888	127724007	39	12656											
CD163L1	283316	broad.mit.edu	37	chr12	7528295	7528295	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattatttaaaaatctcaCgggaacagacaactccaact	18	9	5	9	1	1	2	1	0	1	2	3	3	2	3	1	1	3	0	1	1	8	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:7528295C>T	uc010sge.2	-	10	2742	c.2716_splice	c.e10+1	p.R906_splice	CD163L1_uc001qsy.3_Splice_Site_p.R896_splice	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	896	SRCR 9.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.?(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AAAAATCTCACGGGAACAGAC	0.468													T	7528295	C	T	7528295	5	4	182	1	0	0	0	0	0	0	1	0	2998	550	19	1	1714	1	CD163L1	12	7528295	Splice_Site	SNP	C	TCGA-27-1830-01A-01W-0643-08	1400407	7528295	126323600	40	12657											
KRT8	3856	broad.mit.edu	37	chr12	53294405	53294405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgaggaagttgatctcGtcggtcagcccttccaggcg	6	10	13	12	3	2	2	1	2	1	0	5	3	3	3	3	3	2	1	3	3	1	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:53294405G>A	uc009zmk.1	-	4	761	c.741C>T	c.(739-741)gaC>gaT	p.D247D	KRT8_uc001sbd.2_Silent_p.D219D|KRT8_uc009zml.1_Silent_p.D219D|KRT8_uc009zmm.1_Silent_p.D219D	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	219	Linker 12.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTTGATCTCGTCGGTCAGCC	0.572													A	53294405	G	A	53294405	2	1	182	1	0	0	0	0	0	0	0	1	8551	1136	40	1		1	KRT8	12	53294405	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	45766110	53294405	80557490	41	12658											
IRAK3	11213	broad.mit.edu	37	chr12	66597512	66597512	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagagactttcaagcagctGgctggatgttcgtcatattg	10	12	12	7	1	2	2	2	0	0	2	3	4	2	3	0	2	2	4	0	2	2	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:66597512G>A	uc001sth.3	+	1	257	c.155G>A	c.(154-156)tGg>tAg	p.W52*	IRAK3_uc010ssy.2_Intron	NM_007199	NP_009130	Q9Y616	IRAK3_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 3 (IRAK3), transcript variant 1, mRNA.	52	Death.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TCAAGCAGCTGGCTGGATGTT	0.363													A	66597512	G	A	66597512	4	1	182	1	0	0	0	0	0	1	0	0	7882	1357	47	2	161	2	IRAK3	12	66597512	Nonsense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	13303107	66597512	67254383	42	12659											
SBNO1	55206	broad.mit.edu	37	chr12	123794321	123794321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactgcagtaagtgtgtcCgcaaaatactgaaataacgc	16	8	8	9	2	0	1	0	1	0	0	1	1	1	1	1	0	4	3	1	0	7	3	rs145298684	by1000genomes	TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr12:123794321C>T	uc010tap.2	-	24	3378	c.3378G>A	c.(3376-3378)gcG>gcA	p.A1126A	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Silent_p.A1125A|SBNO1_uc010taq.2_Silent_p.A77A|SBNO1_uc001ues.1_Silent_p.A77A	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1126							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TAAGTGTGTCCGCAAAATACT	0.358													T	123794321	C	T	123794321	2	4	182	1	0	0	0	0	0	0	0	1	13954	639	23	1		1	SBNO1	12	123794321	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08	57196809	123794321	10057574	43	12660											
CLCN7	1186	broad.mit.edu	37	chr16	1498997	1498997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgcccacgatcttggcGgtcatgagcaccagcatgat	9	8	11	13	4	2	2	1	2	1	0	3	3	2	2	2	2	2	2	2	2	0	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1498997G>A	uc002clv.2	-	18	1877	c.1767C>T	c.(1765-1767)acC>acT	p.T589T	CLCN7_uc002clu.2_Silent_p.T37T|CLCN7_uc002clw.2_Silent_p.T565T	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	589						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				CGATCTTGGCGGTCATGAGCA	0.632													A	1498997	G	A	1498997	2	1	182	1	0	0	0	0	0	0	0	1	3499	1103	39	1		1	CLCN7	16	1498997	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08		1498997	88855756	44	12661											
CLCN7	1186	broad.mit.edu	37	chr16	1510943	1510943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgatctccaccgtccGgaaggcctgcagggcgcggt	5	7	15	14	5	1	1	0	1	1	0	3	2	2	2	4	4	1	2	4	4	1	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:1510943G>A	uc002clv.2	-	4	468	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	CLCN7_uc002clw.2_Missense_Mutation_p.R96W	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	120						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCCACCGTCCGGAAGGCCTGC	0.682													A	1510943	G	A	1510943	3	1	182	1	0	0	0	0	1	0	0	0	3499	1115	39	1	2143	1	CLCN7	16	1510943	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	11946	1510943	88843810	45	12662											
ZNF19	7567	broad.mit.edu	37	chr16	71509676	71509676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgtataacaaactcGgaactactcgtgaaactatt	14	12	6	9	2	1	2	0	2	1	0	3	3	1	3	0	1	5	1	0	1	7	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:71509676G>A	uc010cgc.1	-	5	1280	c.774C>T	c.(772-774)tcC>tcT	p.S258S	ZNF23_uc002fai.3_Intron|ZNF19_uc002fak.1_Silent_p.S246S|ZNF19_uc002fal.1_Silent_p.S246S|ZNF19_uc002fam.1_Silent_p.S258S	NM_006961	NP_008892	P17023	ZNF19_HUMAN	Homo sapiens zinc finger protein 19 (ZNF19), mRNA.	258						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|prostate(1)|stomach(1)	22		Ovarian(137;0.00965)		BRCA - Breast invasive adenocarcinoma(221;0.0161)|Kidney(780;0.0598)		TAACAAACTCGGAACTACTCG	0.438													A	71509676	G	A	71509676	2	1	182	1	0	0	0	0	0	0	0	1	17856	1103	39	1		1	ZNF19	16	71509676	Silent	SNP	G	TCGA-27-1830-01A-01W-0643-08	69998733	71509676	18845077	46	12663											
CHST6	4166	broad.mit.edu	37	chr16	75513068	75513068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacgatgccgttgtcaCgcgccagagccttggctgtc	6	8	12	15	4	1	1	1	0	0	1	2	2	1	1	4	1	3	3	4	1	0	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:75513068C>T	uc021tlj.1	-	0	659	c.659G>A	c.(658-660)cGt>cAt	p.R220H	CHST6_uc002fef.3_Missense_Mutation_p.R220H|CHST6_uc002feg.1_Non-coding_Transcript|CHST6_uc002feh.1_Missense_Mutation_p.R220H	NM_021615	NP_067628	Q9GZX3	CHST6_HUMAN	Homo sapiens carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6 (CHST6), mRNA.	220					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GCCGTTGTCACGCGCCAGAGC	0.721													T	75513068	C	T	75513068	3	4	182	1	0	0	0	0	1	0	0	0	3438	536	19	1	532	1	CHST6	16	75513068	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	4003392	75513068	14841685	47	12664											
SLC38A8	146167	broad.mit.edu	37	chr16	84066963	84066963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaggcgatctcccgcGgggcagacaggggcaggatg	8	5	18	10	3	2	1	0	0	2	1	3	4	2	3	1	7	0	2	1	7	1	0			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr16:84066963G>A	uc002fhg.1	-	2	500	c.500C>T	c.(499-501)cCg>cTg	p.P167L		NM_001080442	NP_001073911	A6NNN8	S38A8_HUMAN	Homo sapiens solute carrier family 38, member 8 (SLC38A8), mRNA.	167					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GATCTCCCGCGGGGCAGACAG	0.652													A	84066963	G	A	84066963	3	1	182	1	0	0	0	0	1	0	0	0	14704	1116	39	1	839	1	SLC38A8	16	84066963	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	8553895	84066963	6287790	48	12665											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:7577538C>T	uc002gim.2	-	6	937	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_uc002gig.1_Missense_Mutation_p.R248Q|TP53_uc002gih.3_Missense_Mutation_p.R248Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116Q|TP53_uc010cnf.1_Missense_Mutation_p.R116Q|TP53_uc002gii.1_Missense_Mutation_p.R116Q|TP53_uc010cni.1_Missense_Mutation_p.R248Q|TP53_uc010cnh.1_Missense_Mutation_p.R248Q|TP53_uc002gij.2_Missense_Mutation_p.R248Q|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155Q|TP53_uc002gio.2_Missense_Mutation_p.R116Q|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	182	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		7577538	73617672	49	12666											
MSL1	339287	broad.mit.edu	37	chr17	38285515	38285515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaaatccccatttggaaGtacagaaagaaagactcctg	16	8	9	8	0	0	3	0	0	0	3	2	5	2	5	3	2	1	1	3	2	6	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:38285515G>A	uc002hub.3	+	2	426	c.407G>A	c.(406-408)aGt>aAt	p.S136N	MSL1_uc002hua.4_Missense_Mutation_p.S74N|MSL1_uc002huc.2_Missense_Mutation_p.S74N|MSL1_uc021txa.1_Non-coding_Transcript|MSL1_uc002hud.3_5'Flank	NM_001012241	NP_001012241	Q68DK7	MSL1_HUMAN	Homo sapiens male-specific lethal 1 homolog (Drosophila) (MSL1), mRNA.	337	Pro-rich.				histone H4-K16 acetylation	MSL complex				endometrium(1)|kidney(2)|large_intestine(2)|lung(2)	7						CCATTTGGAAGTACAGAAAGA	0.333													A	38285515	G	A	38285515	3	1	182	1	0	0	0	0	1	0	0	0	9953	1029	36	2	227	2	MSL1	17	38285515	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	30707977	38285515	42909695	50	12667											
IFI35	3430	broad.mit.edu	37	chr17	41166266	41166266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagaggccctgacagtcGtaccccaaggacagcagggc	11	4	14	12	1	0	2	0	1	0	1	1	3	0	3	3	4	2	3	3	4	3	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:41166266G>A	uc021txx.1	+	6	1040	c.817G>A	c.(817-819)Gta>Ata	p.V273I		NM_005533	NP_005524	P80217	IN35_HUMAN	Homo sapiens interferon-induced protein 35 (IFI35), mRNA.	271				EVEALTVVPQGQQGLAVFTSESG -> GRGPDSRTPRTAGP SSLHL (in Ref. 1; no nucleotide entry).	response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		CCTGACAGTCGTACCCCAAGG	0.632													A	41166266	G	A	41166266	3	1	182	1	0	0	0	0	1	0	0	0	7574	1145	40	1	843	1	IFI35	17	41166266	Missense_Mutation	SNP	G	TCGA-27-1830-01A-01W-0643-08	2880751	41166266	40028944	51	12668											
ACE	1636	broad.mit.edu	37	chr17	61566027	61566027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatctgacgaatgtgatggCcacgtcccggaaatatgaag	13	8	12	8	3	1	4	0	3	1	1	2	6	2	5	2	2	0	0	2	2	4	1			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr17:61566027C>T	uc002jau.2	+	15	2358	c.2324C>T	c.(2323-2325)gCc>gTc	p.A775V	ACE_uc010wpj.2_Missense_Mutation_p.A201V|ACE_uc010ddv.2_Missense_Mutation_p.A2V|ACE_uc002jav.2_Missense_Mutation_p.A201V|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A85V	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	775	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	AATGTGATGGCCACGTCCCGG	0.542													T	61566027	C	T	61566027	3	4	182	1	0	0	0	0	1	0	0	0	136	739	26	2	2589	2	ACE	17	61566027	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	20399761	61566027	19629183	52	12669											
DSG3	1830	broad.mit.edu	37	chr18	29054117	29054117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgtatgccagaggcacagCggtggaaggcacttcaggaa	12	6	14	9	2	1	1	1	0	0	1	1	3	1	3	1	5	3	3	1	5	4	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:29054117C>T	uc002kws.3	+	14	2244	c.2135C>T	c.(2134-2136)gCg>gTg	p.A712V	DSG3_uc002kwt.3_5'UTR	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	712					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGAGGCACAGCGGTGGAAGGC	0.443													T	29054117	C	T	29054117	3	4	182	1	0	0	0	0	1	0	0	0	4817	768	27	1	2193	1	DSG3	18	29054117	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		29054117	49023131	53	12670											
ATP5A1	498	broad.mit.edu	37	chr18	43667414	43667414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtactgaagtggggcagCatccgaggccgtagccgaca	10	5	15	11	3	0	1	0	1	0	0	1	3	1	1	3	4	3	4	3	4	3	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr18:43667414C>A	uc002lbr.1	-	6	934	c.844G>T	c.(844-846)Gct>Tct	p.A282S	ATP5A1_uc010dnl.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbs.1_Missense_Mutation_p.A232S|ATP5A1_uc002lbt.1_Missense_Mutation_p.A282S	NM_004046	NP_004037	P25705	ATPA_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle (ATP5A1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	282					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						AGTGGGGCAGCATCCGAGGCC	0.423													A	43667414	C	A	43667414	3	1	182	1	0	0	0	0	1	0	0	0	1152	710	25	4	841	4	ATP5A1	18	43667414	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	14613297	43667414	34409834	54	12671											
ZNF429	353088	broad.mit.edu	37	chr19	21712573	21712573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttagagaactacagaaaCttggtcttcctgggtgagaa	13	11	11	6	0	1	3	0	1	1	3	2	5	2	3	1	2	3	1	1	2	5	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:21712573C>A	uc002nqd.1	+	1	254	c.117C>A	c.(115-117)aaC>aaA	p.N39K	ZNF429_uc010ecu.2_Missense_Mutation_p.N39K	NM_001001415	NP_001001415	Q86V71	ZN429_HUMAN	Homo sapiens zinc finger protein 429 (ZNF429), mRNA.	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTACAGAAACTTGGTCTTCC	0.378													A	21712573	C	A	21712573	3	1	182	1	0	0	0	0	1	0	0	0	18003	564	20	4	123	4	ZNF429	19	21712573	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		21712573	37416410	55	12672											
CPT1C	126129	broad.mit.edu	37	chr19	50208532	50208532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagatcttcaacaccaCgcggattccaggggtccaaa	13	6	10	12	3	2	2	1	0	1	2	4	4	4	3	3	3	1	0	3	3	3	2			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr19:50208532C>T	uc010eng.3	+	9	1257	c.941C>T	c.(940-942)aCg>aTg	p.T314M	CPT1C_uc002ppl.4_Missense_Mutation_p.T280M|CPT1C_uc002ppi.3_Missense_Mutation_p.T231M|CPT1C_uc002ppk.3_Missense_Mutation_p.T303M|CPT1C_uc010enh.3_Missense_Mutation_p.T314M|CPT1C_uc002ppj.3_Missense_Mutation_p.T314M|CPT1C_uc010ybc.1_Missense_Mutation_p.T185M|CPT1C_uc010eni.1_5'Flank	NM_001199753	NP_001186682	Q8TCG5	CPT1C_HUMAN	Homo sapiens carnitine palmitoyltransferase 1C (CPT1C), transcript variant 4, mRNA.	314					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.T314K(2)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TTCAACACCACGCGGATTCCA	0.552													T	50208532	C	T	50208532	3	4	182	1	0	0	0	0	1	0	0	0	3864	536	19	1	971	1	CPT1C	19	50208532	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	28495959	50208532	8920451	56	12673											
XKR7	343702	broad.mit.edu	37	chr20	30584473	30584473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgcggcctggccttcgCgctcttcgccagcgtctaca	3	8	11	19	7	2	0	0	0	2	0	4	0	2	0	4	2	2	1	4	2	1	3			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:30584473C>T	uc002wxe.3	+	2	1127	c.953C>T	c.(952-954)gCg>gTg	p.A318V		NM_001011718	NP_001011718	Q5GH72	XKR7_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 7 (XKR7), mRNA.	318						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTTCGCGCTCTTCGCC	0.637													T	30584473	C	T	30584473	3	4	182	1	0	0	0	0	1	0	0	0	17538	768	27	1	963	1	XKR7	20	30584473	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08		30584473	32441047	57	12674											
JPH2	57158	broad.mit.edu	37	chr20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcctcgcggtggccgtCgggcagcgtggtgcagccat	3	7	16	15	5	0	0	0	0	0	0	3	0	1	0	4	4	3	2	4	4	0	0			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr20:42788430C>T	uc002xli.1	-	1	1870	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662													T	42788430	C	T	42788430	3	4	182	1	0	0	0	0	1	0	0	0	8019	884	31	1	1109	1	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-27-1830-01A-01W-0643-08	12203957	42788430	20237090	58	12675											
PCBP3	54039	broad.mit.edu	37	chr21	47349908	47349908	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaaccccgctttcccCggtacgtacccagccctttt	7	9	6	19	3	0	1	0	0	0	1	1	1	1	1	7	1	4	3	7	1	3	5			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chr21:47349908C>A	uc010gqb.3	+	12	1059	c.796_splice	c.e12+1	p.G266_splice	PCBP3_uc002zhp.2_Splice_Site_p.G266_splice|PCBP3_uc002zhq.2_Splice_Site_p.G266_splice|PCBP3_uc002zhs.2_Splice_Site_p.G240_splice|PCBP3_uc002zht.2_Splice_Site_p.G256_splice	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	266					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CCGCTTTCCCCGGTACGTACC	0.567													A	47349908	C	A	47349908	2	1	182	1	0	0	0	0	0	0	0	1	11578	666	23	4		4	PCBP3	21	47349908	Silent	SNP	C	TCGA-27-1830-01A-01W-0643-08		47349908	779987	59	12676											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913028	77913028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagtaaggggctttggAtatccagtaagagctggaac	11	9	13	8	0	0	1	0	0	0	1	2	3	2	3	2	4	2	5	2	4	4	4			TCGA-27-1830-01A-01W-0643-08	TCGA-27-1830-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b391392a-9865-4bf4-b5f1-fa4fb2ad1343	79d0add1-1203-45bd-a50e-3ab5bcacc03d	g.chrX:77913028A>G	uc022bzi.1	-	0	890	c.890T>C	c.(889-891)aTc>aCc	p.I297T	ZCCHC5_uc004edc.1_Missense_Mutation_p.I297T	NM_152694	NP_689907	Q8N8U3	ZCHC5_HUMAN	Homo sapiens zinc finger, CCHC domain containing 5 (ZCCHC5), mRNA.	297							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GGGGCTTTGGATATCCAGTAA	0.483													G	77913028	A	G	77913028	3	3	182	1	0	0	0	0	1	0	0	0	17692	333	12	3	541	3	ZCCHC5	23	77913028	Missense_Mutation	SNP	A	TCGA-27-1830-01A-01W-0643-08		77913028	77357532	60	12677											
AGMAT	79814	broad.mit.edu	37	chr1	15904246	15904246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataggcaggatccagagcGtcaatatcaaagctgatata	15	8	10	8	1	2	2	2	1	0	1	3	3	3	3	1	2	2	3	1	2	6	4	rs148750290	by1000genomes	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:15904246G>A	uc001awv.2	-	4	977	c.834C>T	c.(832-834)gaC>gaT	p.D278D	DNAJC16_uc001awu.3_Intron	NM_024758	NP_079034	Q9BSE5	SPEB_HUMAN	Homo sapiens agmatine ureohydrolase (agmatinase) (AGMAT), mRNA.	278					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		GATCCAGAGCGTCAATATCAA	0.532													A	15904246	G	A	15904246	2	1	183	1	0	0	0	0	0	0	0	1	385	1136	40	1		1	AGMAT	1	15904246	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08		15904246	233346375	1	12678											
EPHA8	2046	broad.mit.edu	37	chr1	22924647	22924647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctactgcccgcccaggccGcctggcaatgattgtgactg	6	8	11	16	2	0	2	0	2	0	0	0	2	0	2	5	2	2	1	5	2	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:22924647G>A	uc001bfx.1	+	11	2245	c.2120G>A	c.(2119-2121)cGc>cAc	p.R707H		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	707	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CGCCCAGGCCGCCTGGCAATG	0.622													A	22924647	G	A	22924647	3	1	183	1	0	0	0	0	1	0	0	0	5214	1087	38	1	2339	1	EPHA8	1	22924647	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7020401	22924647	226325974	2	12679											
HTR1D	3352	broad.mit.edu	37	chr1	23520071	23520071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatccggccatataggatGatgagcaacaccgagggaat	14	7	12	8	2	0	3	0	2	0	1	1	6	1	5	3	3	2	1	3	3	5	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:23520071G>A	uc001bgn.3	-	0	1152	c.642C>T	c.(640-642)atC>atT	p.I214I		NM_000864	NP_000855	P28221	5HT1D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1D (HTR1D), mRNA.	214					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CATATAGGATGATGAGCAACA	0.577													A	23520071	G	A	23520071	2	1	183	1	0	0	0	0	0	0	0	1	7496	1280	45	2		2	HTR1D	1	23520071	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	595424	23520071	225730550	3	12680											
KLHDC9	126823	broad.mit.edu	37	chr1	161068632	161068632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctgggacgggtctcgcCgcttggccacagtgaccgca	5	6	16	14	5	1	1	0	1	1	0	2	2	1	2	3	4	0	3	3	4	0	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161068632C>T	uc001fxr.3	+	0	452	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	KLHDC9_uc001fxq.3_5'UTR|KLHDC9_uc021pbt.1_5'UTR|KLHDC9_uc021pbu.1_Missense_Mutation_p.R103C|KLHDC9_uc001fxs.3_Missense_Mutation_p.R103C	NM_152366	NP_689579	Q8NEP7	KLDC9_HUMAN	Homo sapiens kelch domain containing 9 (KLHDC9), transcript variant 1, mRNA.	103										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CGGGTCTCGCCGCTTGGCCAC	0.726													T	161068632	C	T	161068632	3	4	183	1	0	0	0	0	1	0	0	0	8422	652	23	1	309	1	KLHDC9	1	161068632	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	137548561	161068632	88181989	4	12681											
ADAMTS4	9507	broad.mit.edu	37	chr1	161165991	161165991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagtgaaggctgactGgagcccatcatcctccacaa	12	6	10	13	0	1	2	1	2	0	0	3	3	3	3	3	2	3	3	3	2	2	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:161165991G>T	uc001fyt.4	-	2	1488	c.1060C>A	c.(1060-1062)Cag>Aag	p.Q354K	ADAMTS4_uc001fyu.2_3'UTR	NM_005099	NP_005090	O75173	ATS4_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 4 (ADAMTS4), mRNA.	354	Peptidase M12B.				proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AAGGCTGACTGGAGCCCATCA	0.577													T	161165991	G	T	161165991	3	4	183	1	0	0	0	0	1	0	0	0	268	1357	47	4	1481	4	ADAMTS4	1	161165991	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	97359	161165991	88084630	5	12682											
KDM5B	10765	broad.mit.edu	37	chr1	202718129	202718129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatcataatggccatgtCtttctgaacagttgaagcca	12	12	7	10	0	4	2	2	2	2	0	4	2	4	2	2	1	2	1	2	1	4	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:202718129C>A	uc009xag.3	-	14	2184	c.2068G>T	c.(2068-2070)Gac>Tac	p.D690Y	KDM5B_uc001gyf.3_Missense_Mutation_p.D654Y|KDM5B_uc001gyg.1_Missense_Mutation_p.D496Y	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	654					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ATGGCCATGTCTTTCTGAACA	0.403													A	202718129	C	A	202718129	3	1	183	1	0	0	0	0	1	0	0	0	8192	913	32	4	2730	4	KDM5B	1	202718129	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	41552138	202718129	46532492	6	12683											
USH2A	7399	broad.mit.edu	37	chr1	215972257	215972257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccttacctggaaggCgattgtacaccactccttct	7	11	9	14	1	1	0	0	0	1	0	2	2	2	1	5	3	2	1	5	3	3	4	rs140746096		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:215972257C>T	uc001hku.1	-	49	10337	c.9950G>A	c.(9949-9951)cGc>cAc	p.R3317H		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3317					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)		ACCTGGAAGGCGATTGTACAC	0.473										HNSCC(13;0.011)			T	215972257	C	T	215972257	3	4	183	1	0	0	0	0	1	0	0	0	17138	768	27	1	5750	1	USH2A	1	215972257	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	13254128	215972257	33278364	7	12684											
C1orf65	164127	broad.mit.edu	37	chr1	223568231	223568231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaggaaggagcggcaaCgcgagctgagggagaaggcc	11	2	19	9	3	0	3	0	2	0	1	0	7	0	5	2	5	3	2	2	5	3	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:223568231C>T	uc001hoa.2	+	0	1517	c.1414C>T	c.(1414-1416)Cgc>Tgc	p.R472C		NM_152610	NP_689823	Q8N715	CA065_HUMAN	Homo sapiens chromosome 1 open reading frame 65 (C1orf65), mRNA.	472										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GGAGCGGCAACGCGAGCTGAG	0.607													T	223568231	C	T	223568231	3	4	183	1	0	0	0	0	1	0	0	0	2076	536	19	1	1416	1	C1orf65	1	223568231	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	7595974	223568231	25682390	8	12685											
RYR2	6262	broad.mit.edu	37	chr1	237863751	237863751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catattggccagcatcagttCggagaagacctaatatgtat	13	11	9	8	1	1	2	1	0	0	2	2	3	1	2	2	2	1	3	2	2	5	6			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:237863751C>T	uc001hyl.1	+	64	9471	c.9351C>T	c.(9349-9351)ttC>ttT	p.F3117F	RYR2_uc010pxz.1_Silent_p.F72F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3117					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCATCAGTTCGGAGAAGACC	0.373													T	237863751	C	T	237863751	2	4	183	1	0	0	0	0	0	0	0	1	13860	883	31	1		1	RYR2	1	237863751	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08	14295520	237863751	11386870	9	12686											
NLRP3	114548	broad.mit.edu	37	chr1	247587925	247587925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgatgaggcccaagccaggGcagccttcagtctgattcag	9	8	12	12	0	3	3	2	3	1	0	3	3	3	3	3	2	2	1	3	2	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr1:247587925G>T	uc001icr.3	+	4	1318	c.1180G>T	c.(1180-1182)Gca>Tca	p.A394S	NLRP3_uc001ics.3_Missense_Mutation_p.A394S|NLRP3_uc001icu.3_Missense_Mutation_p.A394S|NLRP3_uc001icw.3_Missense_Mutation_p.A394S|NLRP3_uc001icv.3_Missense_Mutation_p.A394S|NLRP3_uc010pyw.2_Missense_Mutation_p.A392S|NLRP3_uc001ict.1_Missense_Mutation_p.A392S	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	394	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CCAAGCCAGGGCAGCCTTCAG	0.537													T	247587925	G	T	247587925	3	4	183	1	0	0	0	0	1	0	0	0	10554	1203	42	4	1190	4	NLRP3	1	247587925	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	9724174	247587925	1662696	10	12687											
KCNS3	3790	broad.mit.edu	37	chr2	18112318	18112318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgccctggacaagacgagGaacttgtcaacctgaatgtg	12	8	11	10	2	1	2	1	1	0	1	2	5	1	4	2	2	2	0	2	2	4	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:18112318G>A	uc021veh.1	+	0	43	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	KCNS3_uc002rcv.3_Missense_Mutation_p.E15K|KCNS3_uc002rcw.3_Missense_Mutation_p.E15K	NM_002252	NP_002243	Q9BQ31	KCNS3_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3 (KCNS3), mRNA.	15					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACAAGACGAGGAACTTGTCAA	0.537													A	18112318	G	A	18112318	3	1	183	1	0	0	0	0	1	0	0	0	8148	1175	41	2	45	2	KCNS3	2	18112318	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		18112318	225087055	11	12688											
APOB	338	broad.mit.edu	37	chr2	21227512	21227512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctttagtcttagaggCtaacgtaccatcttcgattt	8	17	7	9	2	2	1	0	0	2	1	4	2	3	1	2	1	2	3	2	1	4	8			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:21227512C>T	uc002red.3	-	26	11952	c.11824G>A	c.(11824-11826)Gcc>Acc	p.A3942T		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3942					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTCTTAGAGGCTAACGTACCA	0.358													T	21227512	C	T	21227512	3	4	183	1	0	0	0	0	1	0	0	0	788	797	28	2	1879	2	APOB	2	21227512	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	3115194	21227512	221971861	12	12689											
GPD2	2820	broad.mit.edu	37	chr2	157407115	157407115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgccactttctttcacaggGcaggaatttgacgtgagagc	10	11	11	9	1	2	2	1	2	1	1	2	4	2	3	1	2	2	1	1	2	1	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:157407115G>A	uc002tzf.4	+	8	1187	c.827_splice	c.e8-1	p.G276_splice	GPD2_uc010zch.2_Splice_Site_p.G49_splice|GPD2_uc002tzd.4_Splice_Site_p.G276_splice|GPD2_uc002tze.1_Splice_Site	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	276					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						CTTTCACAGGGCAGGAATTTG	0.438													A	157407115	G	A	157407115	2	1	183	1	0	0	0	0	0	0	0	1	6660	1217	42	2		2	GPD2	2	157407115	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	136179603	157407115	85792258	13	12690											
UGT1A1	54577	broad.mit.edu	37	chr2	234591304	234591304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctccaaacccctgtcacgGcatatgatctctacagccac	10	10	5	16	1	3	1	1	1	2	0	5	1	3	1	4	1	3	1	4	1	3	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:234591304G>A	uc002vut.3	+	0	721	c.721G>A	c.(721-723)Gca>Aca	p.A241T	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Missense_Mutation_p.A241T	NM_019077	NP_061950	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A7 (UGT1A7), mRNA.	244					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCCTGTCACGGCATATGATCT	0.413													A	234591304	G	A	234591304	3	1	183	1	0	0	0	0	1	0	0	0	17046	1203	42	2		2	UGT1A1	2	234591304	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	77184189	234591304	8608069	14	12691											
COL6A3	1293	broad.mit.edu	37	chr2	238275630	238275630	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggcggctgcctgcctCaggcacaaagtggtttaccc	7	8	12	14	1	1	0	1	0	0	0	2	0	2	0	4	4	3	3	4	4	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr2:238275630C>A	uc002vwl.2	-	10	5485	c.5200G>T	c.(5200-5202)Gag>Tag	p.E1734*	COL6A3_uc002vwo.2_Nonsense_Mutation_p.E1528*|COL6A3_uc010znj.1_Nonsense_Mutation_p.E1127*	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1734	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGCCTGCCTCAGGCACAAAG	0.572													A	238275630	C	A	238275630	4	1	183	1	0	0	0	0	0	1	0	0	3732	835	29	4	4469	4	COL6A3	2	238275630	Nonsense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	3684326	238275630	4923743	15	12692											
CDCP1	64866	broad.mit.edu	37	chr3	45132920	45132920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacctggtctctgggcaCgctgatgttccaggacacag	7	8	13	13	1	1	1	0	1	1	0	3	2	2	2	3	4	0	3	3	4	0	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:45132920C>T	uc003com.3	-	6	1873	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	580						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TCTCTGGGCACGCTGATGTTC	0.607													T	45132920	C	T	45132920	3	4	183	1	0	0	0	0	1	0	0	0	3123	536	19	1	784	1	CDCP1	3	45132920	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		45132920	152889510	16	12693											
GSK3B	2932	broad.mit.edu	37	chr3	119812236	119812236	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgaaggctgctgcaccgGcttgcagctctccgcaaagg	8	7	13	13	2	1	1	0	1	1	0	2	1	1	1	2	3	5	8	2	3	2	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr3:119812236G>C	uc003edo.3	-	0	1029	c.46C>G	c.(46-48)Ccg>Gcg	p.P16A	GSK3B_uc003edn.3_Missense_Mutation_p.P16A|BC035247_uc003edp.3_5'Flank	NM_001146156	NP_001139628	P49841	GSK3B_HUMAN	Homo sapiens glycogen synthase kinase 3 beta (GSK3B), transcript variant 2, mRNA.	16					axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TGCTGCACCGGCTTGCAGCTC	0.483													C	119812236	G	C	119812236	3	2	183	1	0	0	0	0	1	0	0	0	6879	1203	42	4	1303	4	GSK3B	3	119812236	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	74679316	119812236	78210194	17	12694											
WFS1	7466	broad.mit.edu	37	chr4	6302612	6302612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgatctgcaccctcaagGtgttccaggacagcaaggcc	9	8	12	12	0	2	1	1	1	1	0	3	2	3	2	3	4	2	3	3	4	2	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:6302612G>A	uc003giy.3	+	7	1256	c.1090G>A	c.(1090-1092)Gtg>Atg	p.V364M	WFS1_uc003gix.3_Missense_Mutation_p.V364M|WFS1_uc003giz.3_Missense_Mutation_p.V182M	NM_001145853	NP_005996	O76024	WFS1_HUMAN	Homo sapiens Wolfram syndrome 1 (wolframin) (WFS1), transcript variant 2, mRNA.	364					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CACCCTCAAGGTGTTCCAGGA	0.572													A	6302612	G	A	6302612	3	1	183	1	0	0	0	0	1	0	0	0	17462	1261	44	2	1116	2	WFS1	4	6302612	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		6302612	184851664	18	12695											
TLR6	10333	broad.mit.edu	37	chr4	38830723	38830723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaatgagagatctaaatgCctgaaactcacaataggatg	16	10	9	6	0	2	4	1	3	1	1	2	6	2	5	1	1	2	0	1	1	6	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:38830723C>T	uc010ifg.2	-	1	493	c.372G>A	c.(370-372)agG>agA	p.R124R	TLR6_uc003gtm.3_Silent_p.R124R	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	124					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GATCTAAATGCCTGAAACTCA	0.363													T	38830723	C	T	38830723	2	4	183	1	0	0	0	0	0	0	0	1	16055	738	26	2		2	TLR6	4	38830723	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08	32528111	38830723	152323553	19	12696											
PDGFRA	5156	broad.mit.edu	37	chr4	55155241	55155241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctccttttaccacctgaGtgagattgtggagaatctgc	9	12	9	11	0	1	3	0	2	1	2	2	5	2	3	4	1	2	0	4	1	2	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:55155241G>C	uc003han.4	+	20	3171	c.2840G>C	c.(2839-2841)aGt>aCt	p.S947T	PDGFRA_uc003haa.3_Missense_Mutation_p.S707T	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	947	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TACCACCTGAGTGAGATTGTG	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55155241	G	C	55155241	3	2	183	1	0	0	0	0	1	0	0	0	11737	1029	36	4	2918	4	PDGFRA	4	55155241	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	16324518	55155241	135999035	20	12697											
PDCL2	132954	broad.mit.edu	37	chr4	56435994	56435994	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaaatttttgtttttTcttaagagctttccattcct	7	22	3	9	0	2	1	0	0	2	1	5	1	4	1	3	0	1	2	3	0	2	9			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:56435994T>C	uc003hbb.3	-	3	356	c.253A>G	c.(253-255)Aaa>Gaa	p.K85E		NM_152401	NP_689614	Q8N4E4	PDCL2_HUMAN	Homo sapiens phosducin-like 2 (PDCL2), mRNA.	85										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TTTTGTTTTTTCTTAAGAGCT	0.289													C	56435994	T	C	56435994	3	2	183	1	0	0	0	0	1	0	0	0	11703	1792	62	3	484	3	PDCL2	4	56435994	Missense_Mutation	SNP	T	TCGA-27-1831-01A-01D-1494-08	1280753	56435994	134718282	21	12698											
PPBP	5473	broad.mit.edu	37	chr4	74853312	74853312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgggatgaattccagagGttgtctttatacacatgcag	10	15	10	6	0	1	2	0	1	1	1	2	3	2	3	1	2	2	2	1	2	3	7			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:74853312G>T	uc003hhj.3	-	1	293	c.206C>A	c.(205-207)aCc>aAc	p.T69N		NM_002704	NP_002695	P02775	CXCL7_HUMAN	Homo sapiens pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) (PPBP), mRNA.	69					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			AATTCCAGAGGTTGTCTTTAT	0.418													T	74853312	G	T	74853312	3	4	183	1	0	0	0	0	1	0	0	0	12380	1261	44	4	188	4	PPBP	4	74853312	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	18417318	74853312	116300964	22	12699											
TTC29	83894	broad.mit.edu	37	chr4	147824706	147824706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccactcaccatcttcctcGtagagaagacccatatgcat	11	9	6	15	1	2	2	1	0	1	2	4	3	3	2	4	0	1	2	4	0	3	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:147824706G>A	uc003ikx.4	-	6	904	c.654C>T	c.(652-654)taC>taT	p.Y218Y	TTC29_uc003ikw.4_Silent_p.Y192Y|TTC29_uc010ipc.3_Non-coding_Transcript|TTC29_uc010ipd.1_Silent_p.Y192Y	NM_031956	NP_114162	Q8NA56	TTC29_HUMAN	Homo sapiens tetratricopeptide repeat domain 29 (TTC29), mRNA.	192							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					CATCTTCCTCGTAGAGAAGAC	0.458													A	147824706	G	A	147824706	2	1	183	1	0	0	0	0	0	0	0	1	16798	1140	40	1		1	TTC29	4	147824706	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	72971394	147824706	43329570	23	12700											
WWC2	80014	broad.mit.edu	37	chr4	184166575	184166576	+	Frame_Shift_Ins	INS	-	-	A																															tctcttttcacagaattgatINSaaaaaaatgtctggaggcca																										TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr4:184166575_184166576insA	uc010irx.3	+	5	791_792	c.609_610insA	c.(607-612)gataaafs	p.D203fs	WWC2_uc003ivk.4_5'UTR|WWC2_uc003ivl.4_Non-coding_Transcript|WWC2_uc010iry.3_Intron	NM_024949	NP_079225	Q6AWC2	WWC2_HUMAN	Homo sapiens WW and C2 domain containing 2 (WWC2), mRNA.	203										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		ACAGAATTGATAAAAAAATGTC	0.356													A	184166576	-	A	184166575	7	5	183	1	0	1	1	0	0	0	0	0	17514	1403	49	0	631	0	WWC2	4	184166575	Frame_Shift_Ins	INS	-	TCGA-27-1831-01A-01D-1494-08	36341869	184166575	6987701	24	12701											
CDC20B	166979	broad.mit.edu	37	chr5	54423154	54423154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaagcatatttctcagcCgctttttagttaccacatcc	10	13	5	13	1	1	0	1	0	1	0	3	1	2	0	4	0	3	3	4	0	4	6			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:54423154C>T	uc003jpo.2	-	7	1097	c.920G>A	c.(919-921)cGg>cAg	p.R307Q	CDC20B_uc003jpn.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivu.2_Missense_Mutation_p.R307Q|CDC20B_uc010ivv.2_Missense_Mutation_p.R307Q	NM_001170402	NP_001163873	Q86Y33	CD20B_HUMAN	Homo sapiens cell division cycle 20 homolog B (S. cerevisiae) (CDC20B), transcript variant 3, mRNA.	307								p.R307Q(2)		kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			ATTTCTCAGCCGCTTTTTAGT	0.438													T	54423154	C	T	54423154	3	4	183	1	0	0	0	0	1	0	0	0	3090	652	23	1	659	1	CDC20B	5	54423154	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		54423154	126492106	25	12702											
FAT2	2196	broad.mit.edu	37	chr5	150947475	150947475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaataaaaataagggcCgctcccactcctggcctgga	11	7	11	12	1	0	0	0	0	0	0	2	2	2	2	4	4	0	1	4	4	5	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:150947475C>T	uc003lue.4	-	0	1031	c.1018G>A	c.(1018-1020)Ggc>Agc	p.G340S	FAT2_uc010jhx.1_Missense_Mutation_p.G340S	NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	340					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAATAAGGGCCGCTCCCACTC	0.502													T	150947475	C	T	150947475	3	4	183	1	0	0	0	0	1	0	0	0	5739	652	23	1	12123	1	FAT2	5	150947475	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	96524321	150947475	29967785	26	12703											
LARP1	23367	broad.mit.edu	37	chr5	154193504	154193504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtagcaggaggtggcGgcggtgagggcaggaagcgg	8	4	23	6	3	0	1	0	1	0	0	0	3	0	3	0	9	2	3	0	9	2	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr5:154193504G>A	uc003lvo.3	+	18	2932	c.2908G>A	c.(2908-2910)Ggc>Agc	p.G970S	LARP1_uc021ygh.1_Missense_Mutation_p.G842S	NM_015315	NP_056130	Q6PKG0	LARP1_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 1 (LARP1), transcript variant 1, mRNA.	1047							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AGGAGGTGGCGGCGGTGAGGG	0.637													A	154193504	G	A	154193504	3	1	183	1	0	0	0	0	1	0	0	0	8687	1116	39	1	2982	1	LARP1	5	154193504	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	3246029	154193504	26721756	27	12704											
EYA4	2070	broad.mit.edu	37	chr6	133844286	133844286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggaggtgctttccccaTtgagaatatttacagtgcaa	11	14	9	7	0	0	1	0	1	0	1	1	3	1	2	2	2	3	2	2	2	5	7			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr6:133844286T>C	uc011ecs.2	+	17	2043	c.1727T>C	c.(1726-1728)aTt>aCt	p.I576T	EYA4_uc011ecq.2_Missense_Mutation_p.I516T|EYA4_uc011ecr.2_Missense_Mutation_p.I522T|EYA4_uc003qec.4_Missense_Mutation_p.I570T|EYA4_uc003qed.4_Missense_Mutation_p.I570T|EYA4_uc003qee.4_Missense_Mutation_p.I547T|BC041459_uc003qeg.1_Intron	NM_004100	NP_004091	O95677	EYA4_HUMAN	Homo sapiens eyes absent homolog 4 (Drosophila) (EYA4), transcript variant 1, mRNA.	570					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		GCTTTCCCCATTGAGAATATT	0.383													C	133844286	T	C	133844286	3	2	183	1	0	0	0	0	1	0	0	0	5373	1493	52	3	1775	3	EYA4	6	133844286	Missense_Mutation	SNP	T	TCGA-27-1831-01A-01D-1494-08		133844286	37270781	28	12705											
SDK1	221935	broad.mit.edu	37	chr7	4050700	4050700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcaattccgggtgtgcgCggtgaatgaagtgggcaggg	8	9	17	7	3	1	2	1	2	0	0	2	2	2	2	1	4	1	1	1	4	4	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:4050700C>T	uc003smx.3	+	14	2373	c.2234C>T	c.(2233-2235)gCg>gTg	p.A745V	SDK1_uc010kso.3_Missense_Mutation_p.A21V	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	745	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CGGGTGTGCGCGGTGAATGAA	0.622													T	4050700	C	T	4050700	3	4	183	1	0	0	0	0	1	0	0	0	14061	768	27	1	2292	1	SDK1	7	4050700	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		4050700	155087963	29	12706											
TMEM196	256130	broad.mit.edu	37	chr7	19765216	19765216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgttcataactggctagtCgacaagtgagccaggaagag	12	9	12	8	1	2	2	1	1	1	1	3	4	2	3	1	2	2	2	1	2	4	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:19765216C>T	uc011jyg.2	-	2	465	c.380G>A	c.(379-381)cGa>cAa	p.R127Q	TMEM196_uc003sur.3_Non-coding_Transcript	NM_152774	NP_689987	Q5HYL7	TM196_HUMAN	Homo sapiens transmembrane protein 196 (TMEM196), mRNA.	133						integral to membrane				breast(1)|large_intestine(1)|lung(4)	6						ACTGGCTAGTCGACAAGTGAG	0.498													T	19765216	C	T	19765216	3	4	183	1	0	0	0	0	1	0	0	0	16218	884	31	1	146	1	TMEM196	7	19765216	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	15714516	19765216	139373447	30	12707											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55211080G>A	uc003tqk.3	+	2	569	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_uc003tqh.3_Missense_Mutation_p.R108K|EGFR_uc003tqi.3_Missense_Mutation_p.R108K|EGFR_uc003tqj.3_Missense_Mutation_p.R108K|EGFR_uc022adm.1_Missense_Mutation_p.R108K|EGFR_uc010kzg.2_Missense_Mutation_p.R108K|EGFR_uc022adn.1_Missense_Mutation_p.R108K|EGFR_uc011kco.2_Missense_Mutation_p.R55K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(13)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	183	1	0	0	0	0	1	0	0	0	5006	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	35445864	55211080	103927583	31	12708											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	183	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	10742	55221822	103916841	32	12709											
EGFR	1956	broad.mit.edu	37	chr7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcttgaggatcttgaagGaaactgaattcaaaaagatc	15	11	8	7	0	3	4	1	3	2	1	5	6	3	6	0	2	1	0	0	2	5	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241677G>A	uc003tqk.3	+	17	2371	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_uc022adm.1_Missense_Mutation_p.E709K|EGFR_uc010kzg.2_Missense_Mutation_p.E664K|EGFR_uc022adn.1_Missense_Mutation_p.E664K|EGFR_uc011kco.2_Missense_Mutation_p.E656K	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(39)|p.E709A(18)|p.E709G(10)|p.E709_T710>D(6)|p.E709V(5)|p.E709H(4)|p.E709Q(2)|p.E709fs*1(2)|p.K708E(1)|p.E709_T710>G(1)|p.E709_T710>A(1)|p.K708M(1)|p.K708R(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241677	G	A	55241677	3	1	183	1	0	0	0	0	1	0	0	0	5006	1175	41	2	2459	2	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	19855	55241677	103896986	33	12710			1	32		2	2	18	G		3.898914e-05
EGFR	1956	broad.mit.edu	37	chr7	55241694	55241694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaactgaattcaaaaaGatcaaagtgctgggctccgg	16	7	11	7	1	2	2	2	1	0	1	3	3	3	3	1	3	2	2	1	3	6	1			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:55241694G>C	uc003tqk.3	+	17	2388	c.2142G>C	c.(2140-2142)aaG>aaC	p.K714N	EGFR_uc022adm.1_Missense_Mutation_p.K714N|EGFR_uc010kzg.2_Missense_Mutation_p.K669N|EGFR_uc022adn.1_Missense_Mutation_p.K669N|EGFR_uc011kco.2_Missense_Mutation_p.K661N	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	714	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.K714N(2)|p.K713F(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AATTCAAAAAGATCAAAGTGC	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55241694	G	C	55241694	3	2	183	1	0	0	0	0	1	0	0	0	5006	933	33	4	2476	4	EGFR	7	55241694	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	17	55241694	103896969	34	12711			1	32		2	2	18	G		3.898914e-05
ZNF3	7551	broad.mit.edu	37	chr7	99669056	99669056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatagaggtgtgagctctGgctgaaggctttcccacatt	8	12	12	9	0	1	4	0	3	1	1	2	4	2	4	1	3	1	3	1	3	2	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:99669056G>A	uc003uss.3	-	2	1390	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	ZNF3_uc003usp.3_Intron|ZNF3_uc003usq.3_Nonsense_Mutation_p.Q351*|ZNF3_uc010lgj.3_Nonsense_Mutation_p.Q315*|ZNF3_uc003usr.3_Nonsense_Mutation_p.Q351*|ZNF3_uc003ust.4_Nonsense_Mutation_p.Q351*			P17036	ZNF3_HUMAN	Homo sapiens zinc finger protein 3 (ZNF3), transcript variant 2, mRNA.	351				GEKPYECNECGKAFSQSSHLYQHQRIHTGEKPYECMECGGK FTYSSGLIQHQ -> EALPTFVTLIRLLPSVDPIVTNEAAF PAESLATIFALIWRLFCVHSLMFKKV (in Ref. 2; BAA91019).	cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			TGTGAGCTCTGGCTGAAGGCT	0.473													A	99669056	G	A	99669056	4	1	183	1	0	0	0	0	0	1	0	0	17930	1357	47	2	422	2	ZNF3	7	99669056	Nonsense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	44427362	99669056	59469607	35	12712											
SERPINE1	5054	broad.mit.edu	37	chr7	100779013	100779013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccaagagcctctccacGtcgcgcaggcgctgcagaaa	11	4	11	15	4	1	3	0	0	1	3	3	3	1	3	3	1	2	3	3	1	2	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:100779013G>A	uc003uxt.3	+	6	1166	c.1018G>A	c.(1018-1020)Gtc>Atc	p.V340I	SERPINE1_uc011kkj.2_Missense_Mutation_p.V325I|SERPINE1_uc003uxu.2_3'UTR|SERPINE1_uc022aix.1_5'Flank	NM_000602	NP_000593	P05121	PAI1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 (SERPINE1), transcript variant 1, mRNA.	340					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity	p.V340I(2)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GCCTCTCCACGTCGCGCAGGC	0.582													A	100779013	G	A	100779013	3	1	183	1	0	0	0	0	1	0	0	0	14204	1145	40	1	1040	1	SERPINE1	7	100779013	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	1109957	100779013	58359650	36	12713											
RELN	5649	broad.mit.edu	37	chr7	103205920	103205920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgaagggcttgctaCagcccatgctcatttcaaac	10	11	9	11	0	2	1	2	1	0	0	2	1	2	1	1	1	6	5	1	1	3	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:103205920C>T	uc022ajr.1	-	33	5175	c.5015G>A	c.(5014-5016)tGt>tAt	p.C1672Y	RELN_uc022ajq.1_Missense_Mutation_p.C1672Y|RELN_uc010liz.3_Missense_Mutation_p.C1672Y	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1672					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGGCTTGCTACAGCCCATGCT	0.448													T	103205920	C	T	103205920	3	4	183	1	0	0	0	0	1	0	0	0	13308	478	17	2	5495	2	RELN	7	103205920	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	2426907	103205920	55932743	37	12714											
NRCAM	4897	broad.mit.edu	37	chr7	107824688	107824688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggcatcatagctcaccttCcacgtaatcaccaaattatc	14	10	4	13	1	3	0	3	0	0	0	5	0	4	0	3	1	1	3	3	1	5	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:107824688C>A	uc022aka.1	-	18	2407	c.2301G>T	c.(2299-2301)tgG>tgT	p.W767C	NRCAM_uc011kmk.2_Missense_Mutation_p.W767C|NRCAM_uc003vfd.3_Missense_Mutation_p.W748C|NRCAM_uc003vfe.3_Missense_Mutation_p.W748C|NRCAM_uc003vfc.3_Missense_Mutation_p.W751C	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.	767	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCTCACCTTCCACGTAATCA	0.368													A	107824688	C	A	107824688	3	1	183	1	0	0	0	0	1	0	0	0	10720	856	30	4	1691	4	NRCAM	7	107824688	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	4618768	107824688	51313975	38	12715											
FAM71F1	84691	broad.mit.edu	37	chr7	128355633	128355633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcctgtggatggagagccGaaccctggagcgggcctagg	7	7	17	10	2	0	1	0	0	0	1	0	5	0	3	4	5	4	0	4	5	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:128355633G>A	uc003vno.1	+	0	191	c.138G>A	c.(136-138)ccG>ccA	p.P46P	FAM71F1_uc010llo.1_Intron|FAM71F1_uc011koq.1_Intron|FAM71F1_uc003vnm.1_Intron|FAM71F1_uc003vnn.1_Intron|FAM71F1_uc010llp.1_Non-coding_Transcript|FAM71F1_uc003vnp.1_Silent_p.P46P	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	46										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						ATGGAGAGCCGAACCCTGGAG	0.522													A	128355633	G	A	128355633	2	1	183	1	0	0	0	0	0	0	0	1	5662	1045	37	1		1	FAM71F1	7	128355633	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	20530945	128355633	30783030	39	12716											
UBE3C	9690	broad.mit.edu	37	chr7	157041143	157041143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggaaccagtgccgacgtgGacattcaccacctcgcctcc	8	8	9	16	3	1	0	1	0	0	0	3	3	2	2	6	2	2	0	6	2	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr7:157041143G>A	uc010lqs.3	+	18	2875	c.2563G>A	c.(2563-2565)Gac>Aac	p.D855N	UBE3C_uc003wni.4_Missense_Mutation_p.D218N	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	855	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGCCGACGTGGACATTCACCA	0.502													A	157041143	G	A	157041143	3	1	183	1	0	0	0	0	1	0	0	0	16983	1174	41	2	2637	2	UBE3C	7	157041143	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	28685510	157041143	2097520	40	12717											
UBR5	51366	broad.mit.edu	37	chr8	103289358	103289358	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttccccttcttttttttgCcggttttgcatgttcattac	3	22	5	11	1	3	0	1	0	2	0	4	0	4	0	3	1	3	3	3	1	1	10			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:103289358C>T	uc003ykr.2	-	44	6806	c.6351G>A	c.(6349-6351)cgG>cgA	p.R2117R	UBR5_uc003yks.2_Silent_p.R2117R	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	2117					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	p.R2117R(2)		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)			CTTTTTTTTGCCGGTTTTGCA	0.378													T	103289358	C	T	103289358	2	4	183	1	0	0	0	0	0	0	0	1	17007	726	26	2		2	UBR5	8	103289358	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		103289358	43074664	41	12718											
COL14A1	7373	broad.mit.edu	37	chr8	121267573	121267573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccatgccacagcctatagGgttgttatagaatccctcca	10	10	8	13	1	0	1	0	0	0	1	2	1	2	1	5	1	2	2	5	1	5	5			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr8:121267573G>T	uc003yox.3	+	22	3112	c.2847G>T	c.(2845-2847)agG>agT	p.R949S	COL14A1_uc003yoy.3_Missense_Mutation_p.R627S	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	949	Fibronectin type-III 8.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			CAGCCTATAGGGTTGTTATAG	0.453													T	121267573	G	T	121267573	3	4	183	1	0	0	0	0	1	0	0	0	3702	1223	43	4	2933	4	COL14A1	8	121267573	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	17978215	121267573	25096449	42	12719											
IFNE	338376	broad.mit.edu	37	chr9	21481272	21481272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtacattttaacttgtaatCtaaggttatcactacccaaa	15	14	4	8	0	2	0	1	0	1	0	2	0	2	0	1	1	3	3	1	1	7	8			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr9:21481272C>T	uc003zpg.3	-	0	1041	c.422G>A	c.(421-423)aGa>aAa	p.R141K	MIR31HG_uc003zpe.2_Intron	NM_176891	NP_795372	Q86WN2	IFNE_HUMAN	Homo sapiens interferon, epsilon (IFNE), mRNA.	141					defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(2)|lung(1)|skin(1)	4						AACTTGTAATCTAAGGTTATC	0.433													T	21481272	C	T	21481272	3	4	183	1	0	0	0	0	1	0	0	0	7605	913	32	2	208	2	IFNE	9	21481272	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		21481272	119732159	43	12720											
OIT3	170392	broad.mit.edu	37	chr10	74666378	74666378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgaatgtgagcaaaacaAcggtggctgcagtgagatct	15	8	12	6	1	1	3	0	3	1	1	1	4	1	3	0	2	4	3	0	2	5	0			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:74666378A>G	uc001jte.1	+	3	787	c.569A>G	c.(568-570)aAc>aGc	p.N190S	OIT3_uc009xqs.1_Non-coding_Transcript	NM_152635	NP_689848	Q8WWZ8	OIT3_HUMAN	Homo sapiens oncoprotein induced transcript 3 (OIT3), mRNA.	190	EGF-like; calcium-binding (Potential).					nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GAGCAAAACAACGGTGGCTGC	0.488													G	74666378	A	G	74666378	3	3	183	1	0	0	0	0	1	0	0	0	10925	43	2	3	583	3	OIT3	10	74666378	Missense_Mutation	SNP	A	TCGA-27-1831-01A-01D-1494-08		74666378	60868369	44	12721											
EBF3	253738	broad.mit.edu	37	chr10	131640486	131640486	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggttgttgcccagggtgggGatctggttgtgattgcgggg	3	12	21	5	1	1	1	0	1	1	0	1	2	1	2	1	7	2	3	1	7	0	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr10:131640486G>C	uc021qav.1	-	12	1298	c.1197C>G	c.(1195-1197)atC>atG	p.I399M	EBF3_uc001lki.2_Missense_Mutation_p.I413M	NM_001005463	NP_001005463	Q9H4W6	COE3_HUMAN	Homo sapiens early B-cell factor 3 (EBF3), mRNA.	422					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CCAGGGTGGGGATCTGGTTGT	0.617													C	131640486	G	C	131640486	3	2	183	1	0	0	0	0	1	0	0	0	4921	1164	41	4	432	4	EBF3	10	131640486	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	56974108	131640486	3894261	45	12722											
OR52J3	119679	broad.mit.edu	37	chr11	5068212	5068212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagcatgtgcattgtaattCgtcccgttttacttacactt	8	18	6	9	2	0	0	0	0	0	0	2	0	1	0	1	0	4	4	1	0	4	8			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:5068212C>T	uc010qyv.2	+	0	457	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_001001916	NP_001001916	Q8NH60	O52J3_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily J, member 3 (OR52J3), mRNA.	153					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)		CATTGTAATTCGTCCCGTTTT	0.468													T	5068212	C	T	5068212	3	4	183	1	0	0	0	0	1	0	0	0	11198	884	31	1	459	1	OR52J3	11	5068212	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		5068212	129938304	46	12723											
SLC5A12	159963	broad.mit.edu	37	chr11	26718717	26718717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgctatactaacctcagaGttccactgaaggcacaagcc	12	9	8	12	0	1	2	1	1	0	1	2	2	2	2	3	1	4	4	3	1	5	5			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:26718717G>A	uc001mra.2	-	7	1347	c.1034C>T	c.(1033-1035)aCt>aTt	p.T345I	SLC5A12_uc001mrb.2_Non-coding_Transcript|SLC5A12_uc001mrc.4_Missense_Mutation_p.T345I	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	345					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						TAACCTCAGAGTTCCACTGAA	0.438													A	26718717	G	A	26718717	3	1	183	1	0	0	0	0	1	0	0	0	14758	1029	36	2	854	2	SLC5A12	11	26718717	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	21650505	26718717	108287799	47	12724											
PYGM	5837	broad.mit.edu	37	chr11	64521011	64521011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtcttcttgaggatctcGgagtggatgcgcgccacgcc	6	10	14	11	4	3	1	0	1	3	0	4	4	3	4	2	4	1	0	2	4	0	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:64521011G>A	uc001oax.4	-	10	2200	c.1383C>T	c.(1381-1383)tcC>tcT	p.S461S	PYGM_uc001oay.4_Silent_p.S373S	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	461					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TGAGGATCTCGGAGTGGATGC	0.652													A	64521011	G	A	64521011	2	1	183	1	0	0	0	0	0	0	0	1	12950	1103	39	1		1	PYGM	11	64521011	Silent	SNP	G	TCGA-27-1831-01A-01D-1494-08	37802294	64521011	70485505	48	12725											
GPR83	10888	broad.mit.edu	37	chr11	94113625	94113625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagagggcattgttggtgCggatgaccttgctggacagg	8	10	17	6	1	0	2	0	1	0	1	0	4	0	4	1	5	2	4	1	5	1	4	rs145628763	byFrequency	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:94113625C>T	uc001pet.2	-	3	1134	c.962G>A	c.(961-963)cGc>cAc	p.R321H		NM_016540	NP_057624	Q9NYM4	GPR83_HUMAN	Homo sapiens G protein-coupled receptor 83 (GPR83), mRNA.	321						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATTGTTGGTGCGGATGACCTT	0.517													T	94113625	C	T	94113625	3	4	183	1	0	0	0	0	1	0	0	0	6767	768	27	1	313	1	GPR83	11	94113625	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	29592614	94113625	40892891	49	12726											
KIAA1377	57562	broad.mit.edu	37	chr11	101793446	101793446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcaacaaaaaatatgtcGaaatcgagcacgtaaatatt	19	8	7	7	3	0	0	0	0	0	0	2	2	0	0	0	0	3	4	0	0	9	4	rs142032267		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr11:101793446G>A	uc001pgm.3	+	1	473	c.203G>A	c.(202-204)cGa>cAa	p.R68Q	KIAA1377_uc001pgn.3_Missense_Mutation_p.R24Q	NM_020802	NP_065853	Q9P2H0	K1377_HUMAN	Homo sapiens KIAA1377 (KIAA1377), mRNA.	68							protein binding	p.R68L(2)|p.R68*(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAAATATGTCGAAATCGAGCA	0.303													A	101793446	G	A	101793446	3	1	183	1	0	0	0	0	1	0	0	0	8285	1058	37	1	209	1	KIAA1377	11	101793446	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7679821	101793446	33213070	50	12727											
GRIN2B	2904	broad.mit.edu	37	chr12	13716353	13716353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggtggaggcgtttgaCgtcaccgccactggggcagc	6	9	16	10	3	1	1	1	1	0	0	1	2	1	2	2	5	1	2	2	5	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:13716353C>T	uc001rbt.2	-	12	3998	c.3819G>A	c.(3817-3819)acG>acA	p.T1273T		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	1273					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGCGTTTGACGTCACCGCCA	0.582													T	13716353	C	T	13716353	2	4	183	1	0	0	0	0	0	0	0	1	6835	523	19	1		1	GRIN2B	12	13716353	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		13716353	120135542	51	12728											
EPYC	1833	broad.mit.edu	37	chr12	91363838	91363838	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctggaggtgaagggctcGtagattttctgggagtggca	8	11	16	6	1	1	2	0	1	1	1	2	4	1	4	1	5	1	3	1	5	3	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:91363838G>A	uc001tbk.3	-	5	874	c.781C>T	c.(781-783)Cga>Tga	p.R261*		NM_004950	NP_004941	Q99645	EPYC_HUMAN	Homo sapiens epiphycan (EPYC), mRNA.	261					female pregnancy	proteinaceous extracellular matrix	glycosaminoglycan binding	p.R261G(2)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(8)|skin(2)	18						TGAAGGGCTCGTAGATTTTCT	0.478													A	91363838	G	A	91363838	4	1	183	1	0	0	0	0	0	1	0	0	5242	1153	40	1	195	1	EPYC	12	91363838	Nonsense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	77647485	91363838	42488057	52	12729											
NR1H4	9971	broad.mit.edu	37	chr12	100897255	100897255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttttcatggaaatgatGagtatgaagcccgcgaaagg	13	10	13	5	2	1	3	1	3	0	0	1	6	1	5	1	3	1	1	1	3	4	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:100897255G>T	uc001tht.2	+	0	118	c.90G>T	c.(88-90)atG>atT	p.M30I	NR1H4_uc001thq.2_Intron|NR1H4_uc001thp.2_Intron|NR1H4_uc001thr.2_Intron|NR1H4_uc010svk.2_Intron|NR1H4_uc010svj.2_Intron|NR1H4_uc001ths.2_Missense_Mutation_p.M30I	NM_001206993	NP_001193922	Q96RI1	NR1H4_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 4 (NR1H4), transcript variant 3, mRNA.	30					bile acid metabolic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	44						TGGAAATGATGAGTATGAAGC	0.453													T	100897255	G	T	100897255	3	4	183	1	0	0	0	0	1	0	0	0	10695	1305	45	4		4	NR1H4	12	100897255	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	9533417	100897255	32954640	53	12730											
DAO	1610	broad.mit.edu	37	chr12	109293186	109293186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaacgaactggcttcCggccagtacgcccccagatt	8	9	11	13	3	0	2	0	1	0	1	1	3	1	2	4	3	3	2	4	3	3	4	rs140015394		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr12:109293186C>T	uc001tnr.4	+	9	1518	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W	DAO_uc001tnq.4_Missense_Mutation_p.R217W|DAO_uc009zvb.3_Non-coding_Transcript|DAO_uc001tns.4_Non-coding_Transcript	NM_001917	NP_001908	P14920	OXDA_HUMAN	Homo sapiens D-amino-acid oxidase (DAO), mRNA.	283					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						AACTGGCTTCCGGCCAGTACG	0.458													T	109293186	C	T	109293186	3	4	183	1	0	0	0	0	1	0	0	0	4265	643	23	1	881	1	DAO	12	109293186	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	8395931	109293186	24558709	54	12731											
RPGRIP1	57096	broad.mit.edu	37	chr14	21793505	21793505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcccaggtctacctgtcaaCcgatgtgcttggaggccgga	8	8	13	12	2	2	0	1	0	1	0	2	3	2	2	4	4	4	1	4	4	2	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr14:21793505C>A	uc001wag.3	+	14	2330	c.2330C>A	c.(2329-2331)aCc>aAc	p.T777N	RPGRIP1_uc001wah.3_Missense_Mutation_p.T419N|RPGRIP1_uc001wai.3_Intron|RPGRIP1_uc001wak.3_Missense_Mutation_p.T252N|RPGRIP1_uc010aim.3_Missense_Mutation_p.T160N|RPGRIP1_uc001wal.3_Missense_Mutation_p.T136N|RPGRIP1_uc001wam.3_Missense_Mutation_p.T94N	NM_020366	NP_065099	Q96KN7	RPGR1_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator interacting protein 1 (RPGRIP1), mRNA.	777					response to stimulus|visual perception	cilium		p.S777P(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TACCTGTCAACCGATGTGCTT	0.542													A	21793505	C	A	21793505	3	1	183	1	0	0	0	0	1	0	0	0	13640	507	18	4	2388	4	RPGRIP1	14	21793505	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		21793505	85556035	55	12732											
LOXL1	4016	broad.mit.edu	37	chr15	74238821	74238821	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgcgcttcccccagcgCgtgaagaaccagggcacagc	9	5	11	16	3	0	2	0	1	0	1	1	2	1	2	3	1	5	2	3	1	3	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr15:74238821C>T	uc002awc.1	+	2	1611	c.1275C>T	c.(1273-1275)cgC>cgT	p.R425R		NM_005576	NP_005567	Q08397	LOXL1_HUMAN	Homo sapiens lysyl oxidase-like 1 (LOXL1), mRNA.	425	Lysyl-oxidase like.				protein deamination	extracellular space	copper ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						TCCCCCAGCGCGTGAAGAACC	0.692													T	74238821	C	T	74238821	2	4	183	1	0	0	0	0	0	0	0	1	8969	755	27	1		1	LOXL1	15	74238821	Silent	SNP	C	TCGA-27-1831-01A-01D-1494-08		74238821	28292571	56	12733											
USP6	9098	broad.mit.edu	37	chr17	5050405	5050405	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggataaccaaaaagtaCaactctcagtgagcggattt	15	9	8	9	1	2	1	2	1	1	0	3	3	2	3	1	2	4	1	1	2	5	3			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:5050405C>T	uc002gau.1	+	28	4577	c.2347C>T	c.(2347-2349)Caa>Taa	p.Q783*	USP6_uc002gav.1_Nonsense_Mutation_p.Q783*|USP6_uc010ckz.1_Nonsense_Mutation_p.Q466*	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	783					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCAAAAAGTACAACTCTCAGT	0.383			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5050405	C	T	5050405	4	4	183	1	0	0	0	0	0	1	0	0	17188	479	17	2	2425	2	USP6	17	5050405	Nonsense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		5050405	76144805	57	12734											
MYO1D	4642	broad.mit.edu	37	chr17	31105570	31105570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtacttactggcttccGttttaccagctccactttcc	7	16	5	13	1	0	0	0	0	0	0	3	0	3	0	4	1	4	4	4	1	4	7			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:31105570G>A	uc002hho.1	-	2	338	c.326C>T	c.(325-327)aCg>aTg	p.T109M	MYO1D_uc002hhp.1_Missense_Mutation_p.T109M|MYO1D_uc010wcb.2_Missense_Mutation_p.T109M	NM_015194	NP_056009	O94832	MYO1D_HUMAN	Homo sapiens myosin ID (MYO1D), mRNA.	109	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACTGGCTTCCGTTTTACCAGC	0.393													A	31105570	G	A	31105570	3	1	183	1	0	0	0	0	1	0	0	0	10147	1145	40	1	2774	1	MYO1D	17	31105570	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	26055165	31105570	50089640	58	12735											
MYO19	80179	broad.mit.edu	37	chr17	34856982	34856982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcctcagccgagtcaccaGttatggctgctgcctgagtt	6	11	12	12	1	2	1	2	1	0	0	2	2	2	1	4	2	3	4	4	2	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:34856982G>A	uc010wcy.2	-	22	3166	c.2174C>T	c.(2173-2175)aCt>aTt	p.T725I	MYO19_uc010cuu.3_Non-coding_Transcript|MYO19_uc002hmw.3_Missense_Mutation_p.T525I	NM_001163735	NP_001157207	Q96H55	MYO19_HUMAN	Homo sapiens myosin XIX (MYO19), transcript variant 2, mRNA.	725						mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CGAGTCACCAGTTATGGCTGC	0.577													A	34856982	G	A	34856982	3	1	183	1	0	0	0	0	1	0	0	0	10143	1029	36	2	758	2	MYO19	17	34856982	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	3751412	34856982	46338228	59	12736											
TANC2	26115	broad.mit.edu	37	chr17	61428697	61428697	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccggattatggggatacaAttgtatcgtttctgagtaaa	13	13	10	5	2	1	1	0	1	1	0	2	3	1	3	1	3	2	3	1	3	7	6			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr17:61428697A>G	uc002jal.4	+	10	1695	c.1672A>G	c.(1672-1674)Att>Gtt	p.I558V	TANC2_uc010wpe.2_Missense_Mutation_p.I468V	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	558							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TGGGGATACAATTGTATCGTT	0.338													G	61428697	A	G	61428697	3	3	183	1	0	0	0	0	1	0	0	0	15642	101	4	3	1714	3	TANC2	17	61428697	Missense_Mutation	SNP	A	TCGA-27-1831-01A-01D-1494-08	26571715	61428697	19766513	60	12737											
PTPRM	5797	broad.mit.edu	37	chr18	7888125	7888125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctttcatgctggtgaatgCctctgggagacctgaggggc	6	12	14	9	0	3	3	1	2	2	1	3	4	3	3	2	4	2	1	2	4	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr18:7888125C>A	uc002knn.4	+	2	721	c.218C>A	c.(217-219)gCc>gAc	p.A73D	PTPRM_uc010dkv.3_Missense_Mutation_p.A73D	NM_002845	NP_002836	P28827	PTPRM_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, M (PTPRM), transcript variant 2, mRNA.	73	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTGGTGAATGCCTCTGGGAGA	0.453													A	7888125	C	A	7888125	3	1	183	1	0	0	0	0	1	0	0	0	12894	739	26	4	228	4	PTPRM	18	7888125	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		7888125	70189123	61	12738											
MUC16	94025	broad.mit.edu	37	chr19	9087832	9087832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttgtatccttaggatccGtagtggtgatgtaggtggtg	8	14	14	5	1	0	1	0	1	0	0	2	2	2	2	2	4	1	3	2	4	5	5			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:9087832G>A	uc002mkp.3	-	0	4187	c.3983C>T	c.(3982-3984)aCg>aTg	p.T1328M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1328	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						CTTAGGATCCGTAGTGGTGAT	0.527													A	9087832	G	A	9087832	3	1	183	1	0	0	0	0	1	0	0	0	10049	1145	40	1	39876	1	MUC16	19	9087832	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		9087832	50041151	62	12739											
RAB3D	9545	broad.mit.edu	37	chr19	11448018	11448018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcagtttgaacatatagtCgaagttctgatctgctgcat	11	14	9	7	1	2	2	0	2	2	0	3	3	2	2	0	0	4	5	0	0	5	5	rs144965675	by1000genomes	TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:11448018C>T	uc002mqx.3	-	1	319	c.58G>A	c.(58-60)Gac>Aac	p.D20N		NM_004283	NP_004274	O95716	RAB3D_HUMAN	Homo sapiens RAB3D, member RAS oncogene family (RAB3D), mRNA.	20					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						AACATATAGTCGAAGTTCTGA	0.557													T	11448018	C	T	11448018	3	4	183	1	0	0	0	0	1	0	0	0	13022	884	31	1	617	1	RAB3D	19	11448018	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	2360186	11448018	47680965	63	12740											
OR10H2	26538	broad.mit.edu	37	chr19	15839588	15839589	+	Frame_Shift_Ins	INS	-	-	CTTATTGTGG																															tctccacctgtgcctctcacINScttattgtggtcattgtgca																										TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:15839588_15839589insCTTATTGTGG	uc002nbm.2	+	0	755_756	c.735_736insCTTATTGTGG	c.(733-738)caccttfs	p.H245fs		NM_013939	NP_039227	O60403	O10H2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 2 (OR10H2), mRNA.	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					GTGCCTCTCACCTTATTGTGGT	0.54													CTTATTGTGG	15839589	-	CTTATTGTGG	15839588	7	5	183	1	0	1	1	0	0	0	0	0	10982	506	18	0	737	0	OR10H2	19	15839588	Frame_Shift_Ins	INS	-	TCGA-27-1831-01A-01D-1494-08	4391570	15839588	43289395	64	12741											
ZNF91	7644	broad.mit.edu	37	chr19	23543307	23543307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattctttacatttgtagGgtttctctccagtatgaatt	9	18	6	8	0	2	1	0	1	2	0	4	1	3	1	1	1	1	3	1	1	4	8			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:23543307G>C	uc002nre.3	-	3	2587	c.2474C>G	c.(2473-2475)cCc>cGc	p.P825R	ZNF91_uc002nrd.3_5'Flank|ZNF91_uc010xrj.2_Missense_Mutation_p.P793R	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	825						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				ACATTTGTAGGGTTTCTCTCC	0.403													C	23543307	G	C	23543307	3	2	183	1	0	0	0	0	1	0	0	0	18299	1232	43	4	1105	4	ZNF91	19	23543307	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	7703719	23543307	35585676	65	12742											
C5AR1	728	broad.mit.edu	37	chr19	47823716	47823716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacactttcatcctgctcCggacgtggagccgcagggcc	6	9	12	14	3	1	0	1	0	0	0	3	2	3	2	4	3	3	3	4	3	1	2	rs146163744		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr19:47823716C>T	uc002pgj.1	+	1	731	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	228					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity	p.R228R(2)|p.R228W(2)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		CATCCTGCTCCGGACGTGGAG	0.612													T	47823716	C	T	47823716	3	4	183	1	0	0	0	0	1	0	0	0	2303	643	23	1	687	1	C5AR1	19	47823716	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08	24280409	47823716	11305267	66	12743											
SSTR4	6754	broad.mit.edu	37	chr20	23016973	23016973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctgctgaacctcttcGtgaccagccttgatgccacc	7	10	9	15	1	1	3	0	3	1	0	2	3	1	3	5	0	6	3	5	0	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr20:23016973G>A	uc002wsr.2	+	0	917	c.853G>A	c.(853-855)Gtg>Atg	p.V285M		NM_001052	NP_001043	P31391	SSR4_HUMAN	Homo sapiens somatostatin receptor 4 (SSTR4), mRNA.	285					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity	p.V285M(2)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GAACCTCTTCGTGACCAGCCT	0.552													A	23016973	G	A	23016973	3	1	183	1	0	0	0	0	1	0	0	0	15296	1145	40	1	855	1	SSTR4	20	23016973	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08		23016973	40008547	67	12744											
CLDN14	23562	broad.mit.edu	37	chr21	37833888	37833888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggatgttggtgcccaCgtgcgctgtcctccgccagt	4	10	14	13	4	0	1	0	1	0	0	2	2	2	2	4	2	2	2	4	2	0	1	rs142205038		TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chr21:37833888C>T	uc021wja.1	-	0	106	c.106G>A	c.(106-108)Gtg>Atg	p.V36M	CLDN14_uc002yvn.1_Missense_Mutation_p.V36M|CLDN14_uc002yvo.1_Missense_Mutation_p.V36M|CLDN14_uc002yvk.1_Missense_Mutation_p.V36M|CLDN14_uc002yvl.1_Missense_Mutation_p.V36M|CLDN14_uc002yvm.1_Missense_Mutation_p.V36M	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	36					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TTGGTGCCCACGTGCGCTGTC	0.622													T	37833888	C	T	37833888	3	4	183	1	0	0	0	0	1	0	0	0	3506	536	19	1	617	1	CLDN14	21	37833888	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		37833888	10296007	68	12745											
IL3RA	3563	broad.mit.edu	37	chrX	1484071	1484071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagctactcaatcctggaaCgtacacagtacaaataagag	16	7	7	11	1	1	1	1	0	0	1	2	2	2	2	2	1	5	3	2	1	7	4			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:1484071C>T	uc004cps.3	+	8	1149	c.800C>T	c.(799-801)aCg>aTg	p.T267M	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Missense_Mutation_p.T189M	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	267						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATCCTGGAACGTACACAGTA	0.542													T	1484071	C	T	1484071	3	4	183	1	0	0	0	0	1	0	0	0	7753	536	19	1	830	1	IL3RA	23	1484071	Missense_Mutation	SNP	C	TCGA-27-1831-01A-01D-1494-08		1484071	153786489	69	12746											
STS	412	broad.mit.edu	37	chrX	7177573	7177573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctccccctgcagatcgtcgGggtcaccctccttacccttg	4	10	8	19	2	1	1	1	0	0	1	5	1	3	1	6	2	2	1	6	2	1	2			TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:7177573G>A	uc004cry.4	+	4	826	c.581G>A	c.(580-582)gGg>gAg	p.G194E		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	194					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CAGATCGTCGGGGTCACCCTC	0.567									Ichthyosis				A	7177573	G	A	7177573	3	1	183	1	0	0	0	0	1	0	0	0	15428	1232	43	2	599	2	STS	23	7177573	Missense_Mutation	SNP	G	TCGA-27-1831-01A-01D-1494-08	5693502	7177573	148092987	70	12747											
SATL1	340562	broad.mit.edu	37	chrX	84349151	84349151	+	Frame_Shift_Del	DEL	A	A	-																															taccttggtaagcttgtgtgAcataaaagtcctctaggtaa																										TCGA-27-1831-01A-01D-1494-08	TCGA-27-1831-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9880c3c9-5685-42a7-8fe9-7585ea1a1d37	638e5204-4a1a-43a0-bab5-2d3f1bac8dee	g.chrX:84349151delA	uc004een.3	-	3	1859	c.1859delT	c.(1858-1860)gtcfs	p.V620fs		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	433							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						AGCTTGTGTGACATAAAAGTC	0.338													-	84349151	A	-	84349151	7	5	183	1	0	1	0	1	0	0	0	0	13947	275	10	0	47	0	SATL1	23	84349151	Frame_Shift_Del	DEL	A	TCGA-27-1831-01A-01D-1494-08	77171578	84349151	70921409	71	12748											
RPE65	6121	broad.mit.edu	37	chr1	68904666	68904666	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatcagaaacccattgtcTtcataggtgttgatgtgatg	12	13	9	7	0	3	3	2	2	1	1	3	3	3	3	1	1	1	1	1	1	3	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:68904666T>A	uc001dei.1	-	8	1011	c.957A>T	c.(955-957)gaA>gaT	p.E319D		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	319					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						ACCCATTGTCTTCATAGGTGT	0.413													A	68904666	T	A	68904666	3	1	184	1	0	0	0	0	1	0	0	0	13636	1606	56	5	668	5	RPE65	1	68904666	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08		68904666	180345955	1	12749											
SLC39A1	27173	broad.mit.edu	37	chr1	153933124	153933124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcccttgtttcctccAgaggtgacggccctgactgc	6	9	12	14	1	0	4	0	2	0	2	2	4	2	4	4	2	2	2	4	2	0	2			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr1:153933124A>G	uc001fdl.3	-	4	891	c.425T>C	c.(424-426)cTg>cCg	p.L142P	CRTC2_uc021pab.1_5'Flank|SLC39A1_uc001fdi.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdj.3_Missense_Mutation_p.L142P|SLC39A1_uc001fdk.3_Missense_Mutation_p.L142P|SLC39A1_uc010pee.2_Missense_Mutation_p.L40P	NM_014437	NP_055252	Q9NY26	S39A1_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 1 (SLC39A1), mRNA.	142						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TGTTTCCTCCAGAGGTGACGG	0.607													G	153933124	A	G	153933124	3	3	184	1	0	0	0	0	1	0	0	0	14706	188	7	3	553	3	SLC39A1	1	153933124	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	85028458	153933124	95317497	2	12750											
NRXN1	9378	broad.mit.edu	37	chr2	50847197	50847197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaagttgttactgactggtGaccctggaaggtcggctgtg	8	12	14	7	1	0	2	0	2	0	0	1	3	0	3	1	4	1	3	1	4	4	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:50847197G>A	uc021vhh.1	-	6	2204	c.1283C>T	c.(1282-1284)tCa>tTa	p.S428L	NRXN1_uc002rxb.4_Missense_Mutation_p.S100L|NRXN1_uc021vhg.1_Missense_Mutation_p.S468L|NRXN1_uc021vhi.1_Missense_Mutation_p.S464L|NRXN1_uc021vhj.1_Missense_Mutation_p.S424L|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	428	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ACTGACTGGTGACCCTGGAAG	0.463													A	50847197	G	A	50847197	3	1	184	1	0	0	0	0	1	0	0	0	10741	1294	45	2	3567	2	NRXN1	2	50847197	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		50847197	192352176	3	12751											
EIF2AK3	9451	broad.mit.edu	37	chr2	88870441	88870441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacttgtcctgtgtgtctgGcataagctggcattggggtc	5	14	13	9	0	1	0	0	0	1	0	3	0	2	0	1	4	2	3	1	4	2	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:88870441G>A	uc002stc.4	-	13	3238	c.2936C>T	c.(2935-2937)gCc>gTc	p.A979V		NM_004836	NP_004827	Q9NZJ5	E2AK3_HUMAN	Homo sapiens eukaryotic translation initiation factor 2-alpha kinase 3 (EIF2AK3), mRNA.	979	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TGTGTGTCTGGCATAAGCTGG	0.488													A	88870441	G	A	88870441	3	1	184	1	0	0	0	0	1	0	0	0	5037	1203	42	2	430	2	EIF2AK3	2	88870441	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	38023244	88870441	154328932	4	12752											
COL5A2	1290	broad.mit.edu	37	chr2	189918184	189918184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaacagctccagttggcCcattttcacctcgagaaccc	11	8	6	16	1	1	1	1	0	0	1	3	2	2	1	5	1	4	2	5	1	3	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:189918184C>T	uc002uqk.3	-	37	2794	c.2519G>A	c.(2518-2520)gGg>gAg	p.G840E	COL5A2_uc010frx.3_Missense_Mutation_p.G416E	NM_000393	NP_000384	P05997	CO5A2_HUMAN	Homo sapiens collagen, type V, alpha 2 (COL5A2), mRNA.	840					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCCAGTTGGCCCATTTTCACC	0.343													T	189918184	C	T	189918184	3	4	184	1	0	0	0	0	1	0	0	0	3728	623	22	2	2048	2	COL5A2	2	189918184	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	101047743	189918184	53281189	5	12753											
GLS	2744	broad.mit.edu	37	chr2	191769831	191769831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggaactgaatatgtgcAtcgatatgttggaaaagagc	13	12	11	5	1	1	2	0	1	1	1	2	5	1	4	0	2	3	2	0	2	6	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:191769831A>T	uc002usf.2	+	5	1181	c.917A>T	c.(916-918)cAt>cTt	p.H306L	GLS_uc002use.2_Missense_Mutation_p.H306L	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	306					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity	p.V305A(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAATATGTGCATCGATATGTT	0.348													T	191769831	A	T	191769831	3	4	184	1	0	0	0	0	1	0	0	0	6519	217	8	5	939	5	GLS	2	191769831	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	1851647	191769831	51429542	6	12754											
CPS1	1373	broad.mit.edu	37	chr2	211441119	211441119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaggacagattctcacaAtggccaaccctattattggg	14	9	8	10	0	1	1	1	0	1	1	2	2	1	2	2	3	1	0	2	3	5	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr2:211441119A>G	uc010fur.3	+	3	386	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	CPS1_uc002vee.4_Missense_Mutation_p.M96V	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	96	Anthranilate phosphoribosyltransferase homolog.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GATTCTCACAATGGCCAACCC	0.408													G	211441119	A	G	211441119	3	3	184	1	0	0	0	0	1	0	0	0	3854	101	4	3	318	3	CPS1	2	211441119	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	19671288	211441119	31758254	7	12755											
KIF9	64147	broad.mit.edu	37	chr3	47307239	47307239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaacgagtccttcagagcGtgggtgagcttgcactgccg	7	9	13	12	3	1	2	1	1	0	1	2	3	2	2	3	1	5	2	3	1	1	3	rs146278510		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr3:47307239G>A	uc010hjp.3	-	8	1501	c.897C>T	c.(895-897)caC>caT	p.H299H	KIF9_uc003cqx.3_Silent_p.H299H|KIF9_uc003cqy.3_Silent_p.H299H|KIF9_uc011bat.1_Non-coding_Transcript|KIF9_uc011bau.1_Non-coding_Transcript	NM_001134878	NP_878905	Q9HAQ2	KIF9_HUMAN	Homo sapiens kinesin family member 9 (KIF9), transcript variant 4, mRNA.	299					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCTTCAGAGCGTGGGTGAGCT	0.582													A	47307239	G	A	47307239	2	1	184	1	0	0	0	0	0	0	0	1	8368	1136	40	1		1	KIF9	3	47307239	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		47307239	150715191	8	12756											
CEP135	9662	broad.mit.edu	37	chr4	56875926	56875926	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaagaaacattggttaatCgagatcgtgagataaacagc	17	9	10	5	2	0	4	0	2	0	3	2	6	0	4	0	1	3	1	0	1	5	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:56875926C>T	uc003hbi.3	+	18	2596	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	CEP135_uc003hbj.3_Nonsense_Mutation_p.R494*	NM_025009	NP_079285	Q66GS9	CP135_HUMAN	Homo sapiens centrosomal protein 135kDa (CEP135), mRNA.	788					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					ATTGGTTAATCGAGATCGTGA	0.363													T	56875926	C	T	56875926	4	4	184	1	0	0	0	0	0	1	0	0	3277	876	31	1	2432	1	CEP135	4	56875926	Nonsense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		56875926	134278350	9	12757											
WDFY3	23001	broad.mit.edu	37	chr4	85657415	85657415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaagccactgctgacacGggataatttggactgtgtgg	11	9	12	9	1	0	1	0	1	0	0	0	3	0	3	2	3	2	1	2	3	2	2			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr4:85657415G>A	uc003hpd.3	-	41	7231	c.6823C>T	c.(6823-6825)Cgt>Tgt	p.R2275C	WDFY3_uc003hpe.1_5'Flank	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2275						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTGCTGACACGGGATAATTTG	0.373													A	85657415	G	A	85657415	3	1	184	1	0	0	0	0	1	0	0	0	17372	1116	39	1	3865	1	WDFY3	4	85657415	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	28781489	85657415	105496861	10	12758											
GFM2	84340	broad.mit.edu	37	chr5	74056813	74056813	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttatagcagcatatattcTagtaaagagaaaaagaaact	19	12	6	4	0	1	2	0	0	1	2	1	3	1	2	0	0	3	3	0	0	10	8			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:74056813T>C	uc010izj.1	-	4	486	c.160_splice	c.e4-1	p.N54_splice	GFM2_uc003kdh.1_Splice_Site_p.N22_splice|GFM2_uc003kdi.1_Splice_Site_p.N22_splice|GFM2_uc010izk.1_Splice_Site|GFM2_uc003kdj.1_Splice_Site_p.N22_splice|GFM2_uc010izl.1_Splice_Site_p.N22_splice	NM_032380	NP_115756	Q969S9	RRF2M_HUMAN	Homo sapiens G elongation factor, mitochondrial 2 (GFM2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	22					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCATATATTCTAGTAAAGAGA	0.294													C	74056813	T	C	74056813	5	2	184	1	0	0	0	0	0	0	1	0	6398	1536	53	3	2385	3	GFM2	5	74056813	Splice_Site	SNP	T	TCGA-27-1832-01A-01W-0643-08		74056813	106858447	11	12759											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167207	140167207	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggccagggtgtccgtggaGgtggccgacgtgaatgacaa	9	6	17	9	4	0	2	0	2	0	0	1	4	1	3	3	5	0	0	3	5	2	0			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr5:140167207G>A	uc003lhb.2	+	0	1332	c.1332G>A	c.(1330-1332)gaG>gaA	p.E444E	PCDHAC2_uc003lha.2_Silent_p.E444E|PCDHAC2_uc003lgz.3_Silent_p.E444E	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	458	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCCGTGGAGGTGGCCGACG	0.667													A	140167207	G	A	140167207	2	1	184	1	0	0	0	0	0	0	0	1	11609	991	35	2		2	PCDHAC2	5	140167207	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	66110394	140167207	40748053	12	12760											
RP9	6100	broad.mit.edu	37	chr7	33138995	33138995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccagaaattccctggcGtgttcattgcctggtacatc	8	12	10	11	1	1	2	1	1	0	1	3	2	2	2	3	2	3	2	3	2	2	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:33138995G>A	uc003tdm.3	-	2	255	c.237C>T	c.(235-237)caC>caT	p.H79H		NM_203288	NP_976033	Q8TA86	RP9_HUMAN	Homo sapiens retinitis pigmentosa 9 (autosomal dominant) (RP9), mRNA.	79	PIM1-binding (By similarity).				RNA splicing	nucleus	nucleic acid binding|protein binding|zinc ion binding			large_intestine(3)|lung(3)|urinary_tract(1)	7			GBM - Glioblastoma multiforme(11;0.0403)			ATTCCCTGGCGTGTTCATTGC	0.463													A	33138995	G	A	33138995	2	1	184	1	0	0	0	0	0	0	0	1	13626	1136	40	1		1	RP9	7	33138995	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		33138995	125999668	13	12761											
CCDC146	57639	broad.mit.edu	37	chr7	76796979	76796979	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaattttattttagaatcGtgaaaaatggaagacagtag	17	14	8	2	1	0	3	0	1	0	2	1	4	0	4	0	1	0	1	0	1	8	6			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:76796979G>A	uc003uga.3	+	1					CCDC146_uc003ufz.1_5'UTR	NM_020879	NP_065930	Q8IYE0	CC146_HUMAN	Homo sapiens coiled-coil domain containing 146 (CCDC146), mRNA.											breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TTTTAGAATCGTGAAAAATGG	0.308													A	76796979	G	A	76796979	1	1	184	1	0	0	0	0	0	0	0	0	2806	1160	40	1		1	CCDC146	7	76796979	Translation_Start_Site	SNP	G	TCGA-27-1832-01A-01W-0643-08	43657984	76796979	82341684	14	12762											
CROT	54677	broad.mit.edu	37	chr7	86998729	86998729	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaccacattgtagtgctGtgtcgaggccgagcttttgt	8	12	11	10	2	0	0	0	0	0	0	1	2	0	0	3	1	3	3	3	1	2	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:86998729G>T	uc003uiu.3	+	7	914	c.669G>T	c.(667-669)ctG>ctT	p.L223L	CROT_uc003uit.3_Silent_p.L195L	NM_001143935	NP_001137407	Q9UKG9	OCTC_HUMAN	Homo sapiens carnitine O-octanoyltransferase (CROT), transcript variant 1, mRNA.	195					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	TTGTAGTGCTGTGTCGAGGCC	0.428													T	86998729	G	T	86998729	2	4	184	1	0	0	0	0	0	0	0	1	3925	1364	48	4		4	CROT	7	86998729	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	10201750	86998729	72139934	15	12763											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138440516	138440516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggcaagggtagacaGtggctcgaaacctgtgttta	9	10	14	8	1	1	1	0	0	1	1	2	2	1	1	1	3	1	5	1	3	4	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr7:138440516G>T	uc003vuf.3	-	8	972	c.734C>A	c.(733-735)aCt>aAt	p.T245N	ATP6V0A4_uc003vug.3_Missense_Mutation_p.T245N|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.T245N	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	245					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGGTAGACAGTGGCTCGAAA	0.498													T	138440516	G	T	138440516	3	4	184	1	0	0	0	0	1	0	0	0	1175	1029	36	4	1840	4	ATP6V0A4	7	138440516	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	51441787	138440516	20698147	16	12764											
C9orf131	138724	broad.mit.edu	37	chr9	35045866	35045866	+	Nonstop_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccaaatctagtcagtaGagaaaaggctggtaatacta	16	8	8	9	0	2	1	1	0	1	1	2	2	2	1	2	2	1	3	2	2	8	5			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:35045866G>C	uc003zvw.3	+	1	3269	c.3240G>C	c.(3238-3240)taG>taC	p.*1080Y	C9orf131_uc003zvu.3_Nonstop_Mutation_p.*1032Y|C9orf131_uc003zvv.3_Nonstop_Mutation_p.*1007Y|C9orf131_uc003zvx.3_Nonstop_Mutation_p.*1045Y	NM_203299	NP_976044	Q5VYM1	CI131_HUMAN	Homo sapiens chromosome 9 open reading frame 131 (C9orf131), transcript variant 1, mRNA.	0										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			CTAGTCAGTAGAGAAAAGGCT	0.483													C	35045866	G	C	35045866	4	2	184	1	0	0	0	0	0	0	0	0	2483	937	33	4	3262	4	C9orf131	9	35045866	Nonstop_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		35045866	106167565	17	12765											
CNTNAP3	79937	broad.mit.edu	37	chr9	39099958	39099959	+	Frame_Shift_Ins	INS	-	-	C																															gaaggcacagtcacaggtgaINScccccctgcgtttctctctg																										TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:39099958_39099959insC	uc004abi.3	-	17	3183_3184	c.2944_2945insG	c.(2944-2946)gtcfs	p.V982fs	CNTNAP3_uc004abj.3_Intron|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Frame_Shift_Ins_p.V982fs	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	982	EGF-like 2.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GTCACAGGTGACCCCCCTGCGT	0.535													C	39099959	-	C	39099958	7	5	184	1	0	1	1	0	0	0	0	0	3679	275	10	0	949	0	CNTNAP3	9	39099958	Frame_Shift_Ins	INS	-	TCGA-27-1832-01A-01W-0643-08	4054092	39099958	102113473	18	12766											
GPR107	57720	broad.mit.edu	37	chr9	132848732	132848732	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatccttttctgttcataatAatggtggggcagtgtcattt	9	17	9	6	0	3	0	2	0	1	0	4	0	4	0	1	3	0	2	1	3	3	6			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr9:132848732A>G	uc004bze.2	+	6	825	c.598A>G	c.(598-600)Aat>Gat	p.N200D	GPR107_uc004bzb.2_Missense_Mutation_p.N11D|GPR107_uc011mbx.1_Missense_Mutation_p.N200D|GPR107_uc004bzd.2_Missense_Mutation_p.N200D	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	200						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				TGTTCATAATAATGGTGGGGC	0.348													G	132848732	A	G	132848732	3	3	184	1	0	0	0	0	1	0	0	0	6677	362	13	3	624	3	GPR107	9	132848732	Missense_Mutation	SNP	A	TCGA-27-1832-01A-01W-0643-08	93748774	132848732	8364699	19	12767											
MS4A6A	64231	broad.mit.edu	37	chr11	59947358	59947358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacagtgtagaagtcacttgGgtaaaatttggagagaagga	16	9	13	3	0	1	2	1	0	0	2	1	5	1	4	0	3	1	2	0	3	6	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:59947358G>A	uc010rla.2	-	3	785	c.312C>T	c.(310-312)acC>acT	p.T104T	MS4A6A_uc001noq.3_Silent_p.T76T|MS4A6A_uc009ymv.3_Silent_p.T76T|MS4A6A_uc001not.3_Silent_p.T76T|MS4A6A_uc010rlb.2_Intron	NM_001247999	NP_001234928	Q9H2W1	M4A6A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6A (MS4A6A), transcript variant 4, mRNA.	76						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AAGTCACTTGGGTAAAATTTG	0.468													A	59947358	G	A	59947358	2	1	184	1	0	0	0	0	0	0	0	1	9940	1219	43	2		2	MS4A6A	11	59947358	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08		59947358	75059158	20	12768											
USP28	57646	broad.mit.edu	37	chr11	113688486	113688486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgaggcaggttttgtacTagcaaattcaataacatatt	13	15	7	6	0	2	1	1	1	1	0	2	1	2	1	0	2	3	4	0	2	6	9			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr11:113688486T>C	uc001poh.3	-	12	1390	c.1357A>G	c.(1357-1359)Agt>Ggt	p.S453G	USP28_uc001pog.3_Missense_Mutation_p.S161G|USP28_uc010rwy.2_Missense_Mutation_p.S328G|USP28_uc001poi.3_Intron|USP28_uc001poj.3_Missense_Mutation_p.S453G	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	453					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GGTTTTGTACTAGCAAATTCA	0.463													C	113688486	T	C	113688486	3	2	184	1	0	0	0	0	1	0	0	0	17160	1522	53	3	1928	3	USP28	11	113688486	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	53741128	113688486	21318030	21	12769											
CD163L1	283316	broad.mit.edu	37	chr12	7559406	7559406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctactctccccatacagCggttagttccacctacaagc	9	10	6	16	1	2	0	0	0	2	0	4	0	3	0	4	1	5	3	4	1	5	5			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:7559406C>T	uc010sge.2	-	4	865	c.839G>A	c.(838-840)cGc>cAc	p.R280H	CD163L1_uc001qsy.3_Missense_Mutation_p.R270H	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	270	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATACAGCGGTTAGTTCC	0.448													T	7559406	C	T	7559406	3	4	184	1	0	0	0	0	1	0	0	0	2998	768	27	1	3612	1	CD163L1	12	7559406	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		7559406	126292489	22	12770											
TRPV4	59341	broad.mit.edu	37	chr12	110236625	110236625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctcgcgagtcctggcGccgcatgtccgccttcttgt	2	12	12	15	5	1	0	0	0	1	0	4	1	3	0	5	1	1	2	5	1	0	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:110236625G>A	uc001tpj.2	-	4	1041	c.946C>T	c.(946-948)Cgc>Tgc	p.R316C	TRPV4_uc001tpg.2_Missense_Mutation_p.R282C|TRPV4_uc021rdp.1_Missense_Mutation_p.R316C|TRPV4_uc001tph.2_Missense_Mutation_p.R269C|TRPV4_uc001tpi.2_Missense_Mutation_p.R269C|TRPV4_uc001tpk.2_Missense_Mutation_p.R316C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	316			R -> C (in CMT2C and SPSMA).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAGTCCTGGCGCCGCATGTCC	0.612													A	110236625	G	A	110236625	3	1	184	1	0	0	0	0	1	0	0	0	16699	1087	38	1	1713	1	TRPV4	12	110236625	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	102677219	110236625	23615270	23	12771											
AACS	65985	broad.mit.edu	37	chr12	125599073	125599073	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcacggcaacatgacCagcagtgacatcctcctgtg	9	8	10	14	1	0	2	0	2	0	0	2	2	2	2	3	1	4	4	3	1	1	0			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr12:125599073C>A	uc001uhc.3	+	8	1172	c.966C>A	c.(964-966)acC>acA	p.T322T	AACS_uc001uhd.3_Silent_p.T322T|AACS_uc009zyh.3_Non-coding_Transcript|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	322					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GCAACATGACCAGCAGTGACA	0.607													A	125599073	C	A	125599073	2	1	184	1	0	0	0	0	0	0	0	1	9	581	21	4		4	AACS	12	125599073	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08	15362448	125599073	8252822	24	12772											
IPO5	3843	broad.mit.edu	37	chr13	98666352	98666352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagtgtgcaagagtcCgtggtcctgagtatctcaca	8	11	12	10	1	1	2	1	1	1	1	5	3	4	3	3	2	1	2	3	2	2	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:98666352C>T	uc001vne.3	+	21	2443	c.2263C>T	c.(2263-2265)Cgt>Tgt	p.R755C		NM_002271	NP_002262	O00410	IPO5_HUMAN	Homo sapiens importin 5 (IPO5), mRNA.	737					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TGCAAGAGTCCGTGGTCCTGA	0.438													T	98666352	C	T	98666352	3	4	184	1	0	0	0	0	1	0	0	0	7854	652	23	1	2341	1	IPO5	13	98666352	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		98666352	16503526	25	12773											
F10	2159	broad.mit.edu	37	chr13	113793675	113793675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctctctttgcagatggCgaccagtgtgagaccagtcc	9	10	10	12	1	1	2	0	1	1	2	4	4	3	2	4	1	1	1	4	1	1	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr13:113793675C>T	uc001vsx.3	+	3	318	c.261C>T	c.(259-261)ggC>ggT	p.G87G	F10_uc010agq.1_Non-coding_Transcript|F10_uc001vsy.3_Silent_p.G87G	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	87	EGF-like 1; calcium-binding (Potential).				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGCAGATGGCGACCAGTGTG	0.502													T	113793675	C	T	113793675	2	4	184	1	0	0	0	0	0	0	0	1	5378	755	27	1		1	F10	13	113793675	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08	15127323	113793675	1376203	26	12774											
SLC7A7	9056	broad.mit.edu	37	chr14	23245049	23245049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccactcttacctagaagCagccacaatggaggcattga	12	9	9	11	0	1	2	0	1	1	1	1	3	1	3	3	2	4	2	3	2	4	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:23245049C>T	uc001wgr.4	-	5	1129	c.991G>A	c.(991-993)Gct>Act	p.A331T	SLC7A7_uc001wgs.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgt.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgu.4_Missense_Mutation_p.A331T|SLC7A7_uc001wgv.4_Missense_Mutation_p.A331T	NM_001126106	NP_001119578	Q9UM01	YLAT1_HUMAN	Homo sapiens solute carrier family 7 (amino acid transporter light chain, y+L system), member 7 (SLC7A7), transcript variant 3, mRNA.	331					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		TACCTAGAAGCAGCCACAATG	0.428													T	23245049	C	T	23245049	3	4	184	1	0	0	0	0	1	0	0	0	14797	710	25	2	564	2	SLC7A7	14	23245049	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		23245049	84104491	27	12775											
NFKBIA	4792	broad.mit.edu	37	chr14	35871759	35871759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtagggagaatagccCtggtaggtaactctgttgac	10	10	14	7	0	1	2	0	1	1	1	1	3	1	2	1	4	3	5	1	4	5	5			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr14:35871759C>A	uc001wtf.4	-	4	857	c.747G>T	c.(745-747)caG>caT	p.Q249H		NM_020529	NP_065390	P25963	IKBA_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha (NFKBIA), mRNA.	249					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GAGAATAGCCCTGGTAGGTAA	0.577													A	35871759	C	A	35871759	3	1	184	1	0	0	0	0	1	0	0	0	10453	680	24	4	214	4	NFKBIA	14	35871759	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	12626710	35871759	71477781	28	12776											
TPSD1	23430	broad.mit.edu	37	chr16	1306641	1306641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcacttctgcgggggctcCctcatccacccccagtgggt	5	9	11	16	1	2	0	1	0	1	0	4	0	4	0	4	3	2	2	4	3	0	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:1306641C>T	uc002clb.1	+	1	216	c.207C>T	c.(205-207)tcC>tcT	p.S69S	TPSD1_uc010brm.1_Silent_p.S7S	NM_012217	NP_036349	Q9BZJ3	TRYD_HUMAN	Homo sapiens tryptase delta 1 (TPSD1), mRNA.	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GCGGGGGCTCCCTCATCCACC	0.692													T	1306641	C	T	1306641	2	4	184	1	0	0	0	0	0	0	0	1	16526	610	22	2		2	TPSD1	16	1306641	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08		1306641	89048112	29	12777											
DNAH3	55567	broad.mit.edu	37	chr16	20975342	20975342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagcccatccgagtctcGtcaatctgcgtttctgtcat	6	15	8	12	3	5	0	2	0	3	0	7	1	6	0	2	0	2	2	2	0	2	3	rs142743875	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:20975342G>A	uc010vbe.2	-	52	9864	c.9864C>T	c.(9862-9864)gaC>gaT	p.D3288D	DNAH3_uc010vbd.2_Silent_p.D723D	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3288					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCCGAGTCTCGTCAATCTGCG	0.498													A	20975342	G	A	20975342	2	1	184	1	0	0	0	0	0	0	0	1	4642	1136	40	1		1	DNAH3	16	20975342	Silent	SNP	G	TCGA-27-1832-01A-01W-0643-08	19668701	20975342	69379411	30	12778											
KIAA0556	23247	broad.mit.edu	37	chr16	27761189	27761189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgactttaaaatccccGtcttgccttatggacagcgc	8	11	11	11	2	1	1	0	1	1	0	2	2	2	2	3	3	2	0	3	3	3	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:27761189G>A	uc002dow.3	+	15	2932	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I		NM_015202	NP_056017	O60303	K0556_HUMAN	Homo sapiens KIAA0556 (KIAA0556), mRNA.	970										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TAAAATCCCCGTCTTGCCTTA	0.557													A	27761189	G	A	27761189	3	1	184	1	0	0	0	0	1	0	0	0	8241	1145	40	1	2970	1	KIAA0556	16	27761189	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	6785847	27761189	62593564	31	12779											
TRIM72	493829	broad.mit.edu	37	chr16	31235634	31235634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgccagttcgacaaggCggtggcggtggtggcgcacc	5	5	17	14	6	0	0	0	0	0	0	1	1	0	0	3	6	0	2	3	6	1	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr16:31235634C>T	uc002ebn.2	+	6	1276	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM72_uc002ebp.1_5'Flank	NM_001008274	NP_001008275	Q6ZMU5	TRI72_HUMAN	Homo sapiens tripartite motif containing 72 (TRIM72), mRNA.	331	B30.2/SPRY.				exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						TTCGACAAGGCGGTGGCGGTG	0.731													T	31235634	C	T	31235634	3	4	184	1	0	0	0	0	1	0	0	0	16646	768	27	1	1014	1	TRIM72	16	31235634	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	3474445	31235634	59119119	32	12780											
SMCR8	140775	broad.mit.edu	37	chr17	18219935	18219935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagcacatccaggatcagGccagccaggcatccactacc	11	5	10	15	0	1	0	1	0	0	0	3	2	3	2	5	4	3	2	5	4	1	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:18219935G>A	uc002gsy.4	+	0	1342	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_144775	NP_658988	Q8TEV9	SMCR8_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 8 (SMCR8), mRNA.	278										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CCAGGATCAGGCCAGCCAGGC	0.517													A	18219935	G	A	18219935	3	1	184	1	0	0	0	0	1	0	0	0	14886	1203	42	2	834	2	SMCR8	17	18219935	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		18219935	62975275	33	12781											
ENPP7	339221	broad.mit.edu	37	chr17	77710991	77710991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtacgagctcatgtgccGgctgctgggcatcgtgcccg	4	9	15	13	5	1	0	1	0	0	0	2	1	1	0	2	2	5	5	2	2	1	1			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:77710991G>A	uc002jxa.3	+	3	1198	c.1178G>A	c.(1177-1179)cGg>cAg	p.R393Q		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	393					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity	p.R393R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCATGTGCCGGCTGCTGGGC	0.647													A	77710991	G	A	77710991	3	1	184	1	0	0	0	0	1	0	0	0	5176	1116	39	1	1192	1	ENPP7	17	77710991	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	59491056	77710991	3484219	34	12782											
SLC38A10	124565	broad.mit.edu	37	chr17	79226299	79226302	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															tgctccggctcttgtttctcTctttctgagtcgggcagagg																										TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:79226299_79226302delTCTT	uc002jzz.1	-	12	2013_2016	c.1638_1641delAAGA	c.(1636-1641)gaaagafs	p.E546fs	SLC38A10_uc002jzy.1_Frame_Shift_Del_p.E464fs|SLC38A10_uc002kab.3_Frame_Shift_Del_p.E546fs	NM_001037984	NP_001033073	Q9HBR0	S38AA_HUMAN	Homo sapiens solute carrier family 38, member 10 (SLC38A10), transcript variant 1, mRNA.	546					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CTTGTTTCTCTCTTTCTGAGTCGG	0.618													-	79226302	TCTT	-	79226299	7	5	184	1	0	1	0	1	0	0	0	0	14696	1548	54	0	2012	0	SLC38A10	17	79226299	Frame_Shift_Del	DEL	TCTT	TCGA-27-1832-01A-01W-0643-08	1515308	79226299	1968911	35	12783											
DUS1L	64118	broad.mit.edu	37	chr17	80020801	80020801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaatctccgggaagacaCggattttgcacgtgacagga	11	9	12	9	3	2	2	1	1	1	1	3	5	2	5	1	3	1	1	1	3	2	2			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr17:80020801C>T	uc002kdq.3	-	3	865	c.446G>A	c.(445-447)cGt>cAt	p.R149H	DUS1L_uc002kdp.3_Missense_Mutation_p.R18H|DUS1L_uc002kdr.3_Missense_Mutation_p.R149H|DUS1L_uc010wvi.1_Missense_Mutation_p.R132H	NM_022156	NP_071439	Q6P1R4	DUS1L_HUMAN	Homo sapiens dihydrouridine synthase 1-like (S. cerevisiae) (DUS1L), mRNA.	149					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGGGAAGACACGGATTTTGCA	0.602													T	80020801	C	T	80020801	3	4	184	1	0	0	0	0	1	0	0	0	4844	536	19	1	1015	1	DUS1L	17	80020801	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	794502	80020801	1174409	36	12784											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763986	14763986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatctgtaaagactgaatgCgtggcaggagtaacacctaa	15	8	10	8	1	1	2	0	1	1	1	1	3	1	3	1	2	2	3	1	2	5	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:14763986C>G	uc010dlo.2	+	6	1302	c.1122C>G	c.(1120-1122)tgC>tgG	p.C374W	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.C374W	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	374										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGACTGAATGCGTGGCAGGAG	0.363													G	14763986	C	G	14763986	3	3	184	1	0	0	0	0	1	0	0	0	659	776	27	4	1148	4	ANKRD30B	18	14763986	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08		14763986	63313262	37	12785											
DSEL	92126	broad.mit.edu	37	chr18	65181103	65181103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacagcctgtttccatataTttgctttagatcctttatct	8	19	4	10	0	1	1	0	0	1	1	3	1	3	1	3	0	3	2	3	0	5	9			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr18:65181103T>C	uc002lke.1	-	1	1997	c.773A>G	c.(772-774)aAt>aGt	p.N258S	LOC643542_uc021ulh.1_5'Flank|DSEL_uc021ulg.1_Missense_Mutation_p.N258S	NM_032160	NP_115536	Q8IZU8	DSEL_HUMAN	Homo sapiens dermatan sulfate epimerase-like (DSEL), mRNA.	248						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				TTTCCATATATTTGCTTTAGA	0.418													C	65181103	T	C	65181103	3	2	184	1	0	0	0	0	1	0	0	0	4814	1493	52	3	2899	3	DSEL	18	65181103	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	50417117	65181103	12896145	38	12786											
KLK15	55554	broad.mit.edu	37	chr19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgccacagttaaagcGtccacgctcgtagagagcca	12	5	12	12	4	0	1	0	0	0	1	2	3	1	2	3	1	3	3	3	1	4	2	rs140896741	byFrequency	TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr19:51330985G>A	uc002ptl.3	-	1	161	c.130C>T	c.(130-132)Cgc>Tgc	p.R44C	KLK15_uc002ptm.3_Missense_Mutation_p.R44C|KLK15_uc002ptn.3_Missense_Mutation_p.R44C|KLK15_uc002pto.3_Missense_Mutation_p.R43C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R43C|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612													A	51330985	G	A	51330985	3	1	184	1	0	0	0	0	1	0	0	0	8461	1145	40	1	656	1	KLK15	19	51330985	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		51330985	7797998	39	12787											
RRP1B	23076	broad.mit.edu	37	chr21	45113183	45113183	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagacccccaccagctcAcctgccagctcacccctggt	8	6	7	20	0	2	2	2	1	0	1	2	2	2	2	7	1	3	2	7	1	1	0			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr21:45113183A>C	uc002zdk.3	+	15	2310	c.2196A>C	c.(2194-2196)tcA>tcC	p.S732S	RRP1B_uc002zdl.3_Silent_p.S265S	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	732					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		CCACCAGCTCACCTGCCAGCT	0.612													C	45113183	A	C	45113183	2	2	184	1	0	0	0	0	0	0	0	1	13779	146	6	5		5	RRP1B	21	45113183	Silent	SNP	A	TCGA-27-1832-01A-01W-0643-08		45113183	3016712	40	12788											
C22orf42	150297	broad.mit.edu	37	chr22	32546408	32546408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataggctttcactgagatcCgatgtcatgaagtcttcaag	11	12	10	8	1	4	2	3	2	1	1	5	5	5	2	1	1	0	1	1	1	3	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:32546408C>T	uc003amd.3	-	6	593	c.552G>A	c.(550-552)tcG>tcA	p.S184S		NM_001010859	NP_001010859	Q6IC83	CV042_HUMAN	Homo sapiens chromosome 22 open reading frame 42 (C22orf42), mRNA.	184								p.S184S(2)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						CACTGAGATCCGATGTCATGA	0.458													T	32546408	C	T	32546408	2	4	184	1	0	0	0	0	0	0	0	1	2170	639	23	1		1	C22orf42	22	32546408	Silent	SNP	C	TCGA-27-1832-01A-01W-0643-08		32546408	18758158	41	12789											
TMPRSS6	164656	broad.mit.edu	37	chr22	37469590	37469590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttcctggcactgctcttCgtcgctgccgttgagacaat	6	12	9	14	3	1	1	0	1	1	1	4	2	2	1	3	1	2	4	3	1	1	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chr22:37469590C>T	uc003aqt.1	-	12	1599	c.1537G>A	c.(1537-1539)Gaa>Aaa	p.E513K	TMPRSS6_uc003aqs.1_Missense_Mutation_p.E522K	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	522	LDL-receptor class A 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity	p.G512W(1)		breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CACTGCTCTTCGTCGCTGCCG	0.552													T	37469590	C	T	37469590	3	4	184	1	0	0	0	0	1	0	0	0	16351	893	31	1	895	1	TMPRSS6	22	37469590	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	4923182	37469590	13834976	42	12790											
STS	412	broad.mit.edu	37	chrX	7194035	7194035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttgtcctacctccacGtgcacacagccctgttctcc	5	13	6	17	1	2	0	0	0	2	0	5	0	4	0	5	0	3	2	5	0	1	4			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:7194035G>A	uc004cry.4	+	5	1110	c.865G>A	c.(865-867)Gtg>Atg	p.V289M		NM_000351	NP_000342	P08842	STS_HUMAN	Homo sapiens steroid sulfatase (microsomal), isozyme S (STS), mRNA.	289					female pregnancy|steroid catabolic process	endoplasmic reticulum membrane|endosome|Golgi apparatus|integral to membrane|lysosome|microsome|plasma membrane	metal ion binding|steryl-sulfatase activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(1)	27		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)			Estrone(DB00655)	CTACCTCCACGTGCACACAGC	0.453									Ichthyosis				A	7194035	G	A	7194035	3	1	184	1	0	0	0	0	1	0	0	0	15428	1145	40	1	887	1	STS	23	7194035	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08		7194035	148076525	43	12791											
PHF16	9767	broad.mit.edu	37	chrX	46918293	46918293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggagagctccatatcaGgaaaatgatggctattgccc	12	8	12	9	0	1	2	1	1	0	1	2	4	2	3	2	3	2	3	2	3	4	3			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:46918293G>C	uc004dgx.3	+	10	2337	c.2286G>C	c.(2284-2286)caG>caC	p.Q762H	PHF16_uc004dgy.3_Missense_Mutation_p.Q762H	NM_001077445	NP_055550	Q92613	JADE3_HUMAN	Homo sapiens PHD finger protein 16 (PHF16), transcript variant 2, mRNA.	762					histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(2)	33						CTCCATATCAGGAAAATGATG	0.483													C	46918293	G	C	46918293	3	2	184	1	0	0	0	0	1	0	0	0	11904	991	35	4	2324	4	PHF16	23	46918293	Missense_Mutation	SNP	G	TCGA-27-1832-01A-01W-0643-08	39724258	46918293	108352267	44	12792											
SLC6A14	11254	broad.mit.edu	37	chrX	115582754	115582754	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaactgtctcactagcgtgTttgctggatttgctattttt	7	18	8	8	1	1	0	1	0	1	0	2	1	1	1	0	1	4	3	0	1	3	6			TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:115582754T>G	uc004eqi.3	+	7	1209	c.1078T>G	c.(1078-1080)Ttt>Gtt	p.F360V		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	360					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V359L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	CACTAGCGTGTTTGCTGGATT	0.358													G	115582754	T	G	115582754	3	3	184	1	0	0	0	0	1	0	0	0	14771	1725	60	5	1108	5	SLC6A14	23	115582754	Missense_Mutation	SNP	T	TCGA-27-1832-01A-01W-0643-08	68664461	115582754	39687806	45	12793											
CDR1	1038	broad.mit.edu	37	chrX	139865904	139865904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcaatccacatcttcCggaaaaaatccaggtcttcc	12	10	5	14	1	3	0	1	0	2	0	8	1	8	1	5	2	0	0	5	2	4	2	rs143948461		TCGA-27-1832-01A-01W-0643-08	TCGA-27-1832-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ea7ee22-55a6-4748-9607-d93a6a367122	68a8c7ec-beb2-4ce0-8480-1b72210a5989	g.chrX:139865904C>T	uc004fbg.1	-	0	820	c.628G>A	c.(628-630)Gga>Aga	p.G210R	AK054921_uc004fbf.1_Non-coding_Transcript	NM_004065	NP_004056	P51861	CDR1_HUMAN	Homo sapiens cerebellar degeneration-related protein 1, 34kDa (CDR1), mRNA.	210								p.G210R(2)		breast(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(2)|skin(4)|urinary_tract(1)	25	Acute lymphoblastic leukemia(192;7.65e-05)	Lung SC(4;0.051)				CCACATCTTCCGGAAAAAATC	0.438													T	139865904	C	T	139865904	3	4	184	1	0	0	0	0	1	0	0	0	3201	661	23	1	164	1	CDR1	23	139865904	Missense_Mutation	SNP	C	TCGA-27-1832-01A-01W-0643-08	24283150	139865904	15404656	46	12794											
GJB3	2707	broad.mit.edu	37	chr1	35250842	35250842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggcttcaatatgccgcGcctggtgcagtgtgccaacg	7	9	13	12	3	1	0	1	0	0	0	1	0	1	0	3	2	4	3	3	2	3	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:35250842G>A	uc001bxz.4	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H	GJB3_uc001bxx.3_Missense_Mutation_p.R160H|GJB3_uc001bxy.3_Missense_Mutation_p.R160H	NM_024009	NP_076872	O75712	CXB3_HUMAN	Homo sapiens gap junction protein, beta 3, 31kDa (GJB3), transcript variant 1, mRNA.	160					cell communication	connexon complex|integral to membrane	gap junction channel activity	p.R160H(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|prostate(3)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				AATATGCCGCGCCTGGTGCAG	0.552													A	35250842	G	A	35250842	3	1	185	1	0	0	0	0	1	0	0	0	6465	1087	38	1	481	1	GJB3	1	35250842	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		35250842	213999779	1	12795											
EPHA10	284656	broad.mit.edu	37	chr1	38227109	38227109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgctcctggaatcccGcgctgcagctgcagcggccc	6	5	11	19	4	0	0	0	0	0	0	2	1	2	1	4	2	4	5	4	2	1	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:38227109G>A	uc009vvi.3	-	2	904	c.818C>T	c.(817-819)gCg>gTg	p.A273V	EPHA10_uc001cbw.4_Missense_Mutation_p.A273V	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	273						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	p.A273A(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CTGGAATCCCGCGCTGCAGCT	0.677													A	38227109	G	A	38227109	3	1	185	1	0	0	0	0	1	0	0	0	5207	1087	38	1	2306	1	EPHA10	1	38227109	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2976267	38227109	211023512	2	12796											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507363	74507363	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatatcactaaatgttcGgagtttcataccagctcttt	11	15	6	9	1	4	0	3	0	1	0	5	1	4	1	1	1	2	3	1	1	5	6			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:74507363G>A	uc001dfy.4	-	6	1444	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	418								p.L417L(1)|p.R418Q(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						CTAAATGTTCGGAGTTTCATA	0.363													A	74507363	G	A	74507363	4	1	185	1	0	0	0	0	0	1	0	0	9100	1124	39	1	630	1	LRRIQ3	1	74507363	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	36280254	74507363	174743258	3	12797											
ILDR2	387597	broad.mit.edu	37	chr1	166904584	166904584	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgccaagggaggtggAtgcggcttgtccatcagcat	7	10	15	9	1	1	0	1	0	0	0	2	2	2	2	2	5	3	2	2	5	1	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr1:166904584A>T	uc001gdx.2	-	5	890	c.834T>A	c.(832-834)caT>caA	p.H278Q		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	278						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGGGAGGTGGATGCGGCTTGT	0.617													T	166904584	A	T	166904584	3	4	185	1	0	0	0	0	1	0	0	0	7768	330	12	5	1105	5	ILDR2	1	166904584	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08	92397221	166904584	82346037	4	12798											
CPS1	1373	broad.mit.edu	37	chr2	211481222	211481222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtttttgtataagatgCgtgatattttaaacatggaa	13	16	10	2	1	0	2	0	1	0	1	0	3	0	3	0	2	2	2	0	2	6	7	rs148519116		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:211481222C>T	uc010fur.3	+	21	2744	c.2662C>T	c.(2662-2664)Cgt>Tgt	p.R888C	CPS1_uc002vee.4_Missense_Mutation_p.R882C|CPS1_uc010fus.3_Missense_Mutation_p.R431C|CPS1-IT1_uc002vef.3_5'Flank	NM_001122633	NP_001116105	P31327	CPSM_HUMAN	Homo sapiens carbamoyl-phosphate synthase 1, mitochondrial (CPS1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	882					carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GTATAAGATGCGTGATATTTT	0.408													T	211481222	C	T	211481222	3	4	185	1	0	0	0	0	1	0	0	0	3854	768	27	1	2748	1	CPS1	2	211481222	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		211481222	31718151	5	12799											
NCL	4691	broad.mit.edu	37	chr2	232326477	232326477	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctttgcccccttggctggGatggcagcacccttcttacc	4	13	9	15	0	2	0	0	0	2	0	2	1	2	1	4	3	3	3	4	3	1	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:232326477G>T	uc002vru.3	-	2	528	c.387C>A	c.(385-387)atC>atA	p.I129I	SNORD82_uc010fxw.1_5'Flank	NM_005381	NP_005372	P19338	NUCL_HUMAN	Homo sapiens nucleolin (NCL), mRNA.	129	8 X 8 AA tandem repeats of X-T-P-X-K-K-X- X.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CCTTGGCTGGGATGGCAGCAC	0.532													T	232326477	G	T	232326477	2	4	185	1	0	0	0	0	0	0	0	1	10302	1164	41	4		4	NCL	2	232326477	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	20845255	232326477	10872896	6	12800											
SH3BP4	23677	broad.mit.edu	37	chr2	235950763	235950763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctggagccctgtatgtaCgtggctgtcgtggcccatgg	6	10	14	11	2	0	0	0	0	0	0	1	1	0	1	3	4	3	3	3	4	3	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:235950763C>T	uc002vvp.3	+	3	1743	c.1350C>T	c.(1348-1350)taC>taT	p.Y450Y	SH3BP4_uc010fym.3_Silent_p.Y450Y|SH3BP4_uc002vvq.3_Silent_p.Y450Y	NM_014521	NP_055336	Q9P0V3	SH3B4_HUMAN	Homo sapiens SH3-domain binding protein 4 (SH3BP4), mRNA.	450					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		CCTGTATGTACGTGGCTGTCG	0.577													T	235950763	C	T	235950763	2	4	185	1	0	0	0	0	0	0	0	1	14339	547	19	1		1	SH3BP4	2	235950763	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	3624286	235950763	7248610	7	12801											
D2HGDH	728294	broad.mit.edu	37	chr2	242683167	242683167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggaaacgtggcaaccaaCgctggaggcctgcggtttct	8	7	16	10	3	1	0	0	0	1	0	1	2	1	2	2	6	4	3	2	6	3	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr2:242683167C>T	uc002wce.1	+	4	794	c.621C>T	c.(619-621)aaC>aaT	p.N207N	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Silent_p.N73N|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	207	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		TGGCAACCAACGCTGGAGGCC	0.617													T	242683167	C	T	242683167	2	4	185	1	0	0	0	0	0	0	0	1	4247	535	19	1		1	D2HGDH	2	242683167	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	6732404	242683167	516206	8	12802											
CNTN6	27255	broad.mit.edu	37	chr3	1418745	1418745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagtcggtctgaactcGtcattacgtgggaggtaatt	10	11	14	6	3	2	1	1	1	1	0	4	4	2	3	0	4	2	1	0	4	4	3	rs140014929		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:1418745G>A	uc003boz.3	+	16	2419	c.2152G>A	c.(2152-2154)Gtc>Atc	p.V718I	CNTN6_uc011asj.2_Missense_Mutation_p.V646I|CNTN6_uc003bpa.3_Missense_Mutation_p.V718I	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	718	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.V718I(4)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTCTGAACTCGTCATTACGTG	0.373													A	1418745	G	A	1418745	3	1	185	1	0	0	0	0	1	0	0	0	3676	1145	40	1	2214	1	CNTN6	3	1418745	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		1418745	196603685	9	12803											
RARB	5915	broad.mit.edu	37	chr3	25215958	25215958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgactcactatccagccacaCcctacccgttactctttcca	9	11	3	18	1	2	1	1	1	1	0	4	1	4	1	5	0	3	1	5	0	3	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:25215958C>A	uc011awl.2	+	0	136	c.70C>A	c.(70-72)Ccc>Acc	p.P24T		NM_016152	NP_057236	P10826	RARB_HUMAN	Homo sapiens retinoic acid receptor, beta (RARB), transcript variant 2, mRNA.	24	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	TCCAGCCACACCCTACCCGTT	0.592													A	25215958	C	A	25215958	3	1	185	1	0	0	0	0	1	0	0	0	13141	522	18	4		4	RARB	3	25215958	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	23797213	25215958	172806472	10	12804											
CYP8B1	1582	broad.mit.edu	37	chr3	42916827	42916827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcctcatgccagcaactgGcatccagactccagcctttg	8	10	8	15	0	1	1	1	0	0	1	4	1	4	1	5	1	4	2	5	1	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr3:42916827G>A	uc003cmh.3	-	0	807	c.482C>T	c.(481-483)gCc>gTc	p.A161V	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	161					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CCAGCAACTGGCATCCAGACT	0.522													A	42916827	G	A	42916827	3	1	185	1	0	0	0	0	1	0	0	0	4231	1203	42	2	1027	2	CYP8B1	3	42916827	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	17700869	42916827	155105603	11	12805											
WHSC1	7468	broad.mit.edu	37	chr4	1955109	1955109	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgttaagcgctgtgtggtAactcagtgtggaaaatttta	11	14	12	4	1	1	0	1	0	0	0	1	2	1	1	0	2	2	3	0	2	5	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr4:1955109A>G	uc003gdz.4	+	11	2372	c.2196A>G	c.(2194-2196)gtA>gtG	p.V732V	WHSC1_uc003geb.4_Silent_p.V732V|WHSC1_uc003gec.4_Silent_p.V732V|WHSC1_uc003ged.4_Silent_p.V732V|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_5'UTR|WHSC1_uc011bvh.2_5'UTR|WHSC1_uc010icf.3_Silent_p.V80V	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	732					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		GCTGTGTGGTAACTCAGTGTG	0.458			T	IGH@	MM								G	1955109	A	G	1955109	2	3	185	1	0	0	0	0	0	0	0	1	17464	349	13	3		3	WHSC1	4	1955109	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08		1955109	189199167	12	12806											
PAM	5066	broad.mit.edu	37	chr5	102360910	102360911	+	Frame_Shift_Del	DEL	AG	AG	-																															gcagaagatgcaagagaaacAgaaactgatcaaagagccag																										TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr5:102360910_102360911delAG	uc003knt.3	+	22	2934_2935	c.2561_2562delAG	c.(2560-2562)cagfs	p.Q854fs	PAM_uc003knw.3_Frame_Shift_Del_p.Q854fs|PAM_uc003kns.3_Frame_Shift_Del_p.Q747fs|PAM_uc003knu.3_Intron|PAM_uc011cuz.2_Frame_Shift_Del_p.Q756fs|PAM_uc003knv.3_Intron|PAM_uc003knz.3_Frame_Shift_Del_p.Q94fs	NM_000919	NP_000910	P19021	AMD_HUMAN	Homo sapiens peptidylglycine alpha-amidating monooxygenase (PAM), transcript variant 1, mRNA.	854					peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	CAAGAGAAACAGAAACTGATCA	0.46													-	102360911	AG	-	102360910	7	5	185	1	0	1	0	1	0	0	0	0	11488	188	7	0	2651	0	PAM	5	102360910	Frame_Shift_Del	DEL	AG	TCGA-27-1833-01A-01W-0643-08		102360910	78554350	13	12807											
PKHD1	5314	broad.mit.edu	37	chr6	51523917	51523917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctccttactgttggCgaatcaccaatttcaatgac	10	12	7	12	1	2	1	2	1	0	0	3	2	3	1	3	1	2	2	3	1	4	3	rs142855690	by1000genomes	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:51523917C>T	uc003pah.1	-	60	11283	c.11007G>A	c.(11005-11007)tcG>tcA	p.S3669S		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3669					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTACTGTTGGCGAATCACCAA	0.423													T	51523917	C	T	51523917	2	4	185	1	0	0	0	0	0	0	0	1	12048	755	27	1		1	PKHD1	6	51523917	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08		51523917	119591150	14	12808											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912560	111912560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctgtgcacatgctggatAcctctgaggttcaaactgag	10	11	10	10	0	3	2	1	2	2	0	3	3	3	3	1	2	4	3	1	2	2	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr6:111912560A>G	uc011ebc.2	-	2	1345	c.730T>C	c.(730-732)Tat>Cat	p.Y244H	TRAF3IP2-AS1_uc021zdu.1_Intron|TRAF3IP2-AS1_uc021zdv.1_Intron|TRAF3IP2_uc003pvg.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc003pvf.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdw.3_Missense_Mutation_p.Y244H|TRAF3IP2_uc010kdx.2_Missense_Mutation_p.Y244H	NM_147686	NP_679211	O43734	CIKS_HUMAN	Homo sapiens TRAF3 interacting protein 2 (TRAF3IP2), transcript variant 2, mRNA.	253					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CATGCTGGATACCTCTGAGGT	0.572													G	111912560	A	G	111912560	3	3	185	1	0	0	0	0	1	0	0	0	16542	391	14	3	999	3	TRAF3IP2	6	111912560	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08	60388643	111912560	59202507	15	12809											
PON1	5444	broad.mit.edu	37	chr7	94953757	94953757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagagtgccagtcccatccCcaagagggtgagcgcaatca	12	5	12	12	1	1	3	1	1	0	2	3	4	3	3	4	1	2	1	4	1	3	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:94953757C>A	uc003uns.3	-	0	128	c.31G>T	c.(31-33)Ggg>Tgg	p.G11W	PON1_uc011kih.2_Intron	NM_000446	NP_000437	P27169	PON1_HUMAN	Homo sapiens paraoxonase 1 (PON1), mRNA.	11					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	AGTCCCATCCCCAAGAGGGTG	0.607													A	94953757	C	A	94953757	3	1	185	1	0	0	0	0	1	0	0	0	12325	623	22	4	1072	4	PON1	7	94953757	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		94953757	64184906	16	12810											
TRRAP	8295	broad.mit.edu	37	chr7	98580929	98580935	+	Frame_Shift_Del	DEL	AACGCAG	AACGCAG	-																															tccaggaagctgcacaaatcAacgcaggcttacagccaacc																										TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:98580929_98580935delAACGCAG	uc003upp.3	+	58	9057_9063	c.8848_8854delAACGCAG	c.(8848-8856)aacgcaggcfs	p.N2950fs	TRRAP_uc011kis.2_Frame_Shift_Del_p.N2932fs|TRRAP_uc003upr.3_Frame_Shift_Del_p.N2649fs	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2950	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.T2951A(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCACAAATCAACGCAGGCTTACAGCC	0.522													-	98580935	AACGCAG	-	98580929	7	5	185	1	0	1	0	1	0	0	0	0	16702	130	5	0	9020	0	TRRAP	7	98580929	Frame_Shift_Del	DEL	AACGCAG	TCGA-27-1833-01A-01W-0643-08	3627172	98580929	60557734	17	12811											
PIK3CG	5294	broad.mit.edu	37	chr7	106513286	106513286	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcacagccatgctgcaCgactttacccaacaagtcca	11	8	8	14	1	0	0	0	0	0	0	1	1	1	0	3	1	5	3	3	1	3	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:106513286C>T	uc003vdv.4	+	3	2275	c.2190C>T	c.(2188-2190)caC>caT	p.H730H	PIK3CG_uc003vdu.3_Silent_p.H730H|PIK3CG_uc003vdw.3_Silent_p.H730H	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	730					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCATGCTGCACGACTTTACCC	0.473													T	106513286	C	T	106513286	2	4	185	1	0	0	0	0	0	0	0	1	11993	535	19	1		1	PIK3CG	7	106513286	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	7932357	106513286	52625377	18	12812											
AKR1B15	441282	broad.mit.edu	37	chr7	134260192	134260192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggaggagctggtggaCgaggggctggtgaaagccct	8	6	19	8	1	0	1	0	1	0	0	0	5	0	4	2	7	2	2	2	7	1	0	rs4035285		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:134260192C>T	uc011kpr.2	+	6	833	c.534C>T	c.(532-534)gaC>gaT	p.D178D		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	178							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGCTGGTGGACGAGGGGCTGG	0.517													T	134260192	C	T	134260192	2	4	185	1	0	0	0	0	0	0	0	1	468	535	19	1		1	AKR1B15	7	134260192	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	27746906	134260192	24878471	19	12813											
MLL3	58508	broad.mit.edu	37	chr7	151877846	151877846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catatttacagtattctgtgTatcagttactcctgaagttg	10	17	7	7	0	2	1	1	1	1	0	3	1	3	1	1	0	2	4	1	0	6	8			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr7:151877846T>C	uc003wla.3	-	35	7318	c.7099A>G	c.(7099-7101)Aca>Gca	p.T2367A	MLL3_uc003wkz.3_Missense_Mutation_p.T1428A|MLL3_uc003wky.3_5'Flank	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	2367					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GTATTCTGTGTATCAGTTACT	0.428			N		medulloblastoma								C	151877846	T	C	151877846	3	2	185	1	0	0	0	0	1	0	0	0	9697	1638	57	3	7732	3	MLL3	7	151877846	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	17617654	151877846	7260817	20	12814											
FLJ43860	389690	broad.mit.edu	37	chr8	142476586	142476586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccagcagggtgatggcGtgcagggtcttttccttggc	4	10	17	10	2	1	1	0	1	1	0	2	1	2	1	2	5	2	2	2	5	0	3			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:142476586G>A	uc003ywi.2	-	18	2481	c.2400C>T	c.(2398-2400)caC>caT	p.H800H	FLJ43860_uc011ljs.1_Non-coding_Transcript|FLJ43860_uc010meu.1_Non-coding_Transcript	NM_207414	NP_997297	Q6ZUA9	Q6ZUA9_HUMAN	Homo sapiens FLJ43860 protein (FLJ43860), mRNA.	800							binding					all_cancers(97;7.79e-15)|all_epithelial(106;4.52e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGGTGATGGCGTGCAGGGTCT	0.632													A	142476586	G	A	142476586	2	1	185	1	0	0	0	0	0	0	0	1	5979	1136	40	1		1	FLJ43860	8	142476586	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		142476586	3887436	21	12815											
HSF1	3297	broad.mit.edu	37	chr8	145537533	145537533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagcccctcggtgaccgtgCccgacatgagcctgcctgac	6	7	11	17	3	1	3	1	3	0	0	2	4	1	3	6	1	4	0	6	1	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr8:145537533C>T	uc003zbt.4	+	10	1443	c.1273C>T	c.(1273-1275)Ccc>Tcc	p.P425S	HSF1_uc003zbu.4_Non-coding_Transcript	NM_005526	NP_005517	Q00613	HSF1_HUMAN	Homo sapiens heat shock transcription factor 1 (HSF1), mRNA.	425	Transactivation domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			GGTGACCGTGCCCGACATGAG	0.716													T	145537533	C	T	145537533	3	4	185	1	0	0	0	0	1	0	0	0	7450	739	26	2	1315	2	HSF1	8	145537533	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	3060947	145537533	826489	22	12816											
EXD3	54932	broad.mit.edu	37	chr9	140201615	140201615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagccgggtgccgtcGgccagcatgtccggtgtctc	4	8	15	14	4	1	0	0	0	1	0	4	0	2	0	4	3	5	3	4	3	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr9:140201615G>A	uc004cmp.2	-	21	2614	c.2418C>T	c.(2416-2418)gcC>gcT	p.A806A	EXD3_uc010ncf.1_Silent_p.A444A	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 3 (EXD3), mRNA.	806					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GGGTGCCGTCGGCCAGCATGT	0.697													A	140201615	G	A	140201615	2	1	185	1	0	0	0	0	0	0	0	1	5340	1103	39	1		1	EXD3	9	140201615	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		140201615	1011816	23	12817											
MPP7	143098	broad.mit.edu	37	chr10	28345469	28345469	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatctttgcattttttctTgtttctctcaaacgctctat	8	21	3	9	1	5	0	1	0	4	0	6	0	5	0	0	0	2	3	0	0	3	8			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:28345469T>C	uc001iua.1	-	17	1895	c.1491A>G	c.(1489-1491)acA>acG	p.T497T	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Silent_p.T497T|MPP7_uc009xla.2_Silent_p.T497T|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	497	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CATTTTTTCTTGTTTCTCTCA	0.403													C	28345469	T	C	28345469	2	2	185	1	0	0	0	0	0	0	0	1	9815	1799	63	3		3	MPP7	10	28345469	Silent	SNP	T	TCGA-27-1833-01A-01W-0643-08		28345469	107189278	24	12818											
OGDHL	55753	broad.mit.edu	37	chr10	50943387	50943387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagccgctgggtcccGgccaacatacctggaggagg	7	6	16	12	2	0	0	0	0	0	0	1	2	1	2	4	6	4	2	4	6	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:50943387G>A	uc009xog.3	-	21	3035	c.3001C>T	c.(3001-3003)Cgg>Tgg	p.R1001W	OGDHL_uc001jie.3_Missense_Mutation_p.R974W|OGDHL_uc010qgt.2_Missense_Mutation_p.R917W|OGDHL_uc010qgu.2_Missense_Mutation_p.R765W	NM_001143997	NP_001137469	Q9ULD0	OGDHL_HUMAN	Homo sapiens oxoglutarate dehydrogenase-like (OGDHL), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	974					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GCTGGGTCCCGGCCAACATAC	0.622													A	50943387	G	A	50943387	3	1	185	1	0	0	0	0	1	0	0	0	10916	1115	39	1	116	1	OGDHL	10	50943387	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	22597918	50943387	84591360	25	12819											
A1CF	29974	broad.mit.edu	37	chr10	52596064	52596064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacaaacccctaagaggCgcccatttctgcaaaaagag	14	6	9	12	1	1	2	0	0	1	2	1	2	1	2	3	2	2	2	3	2	4	2	rs148254279		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:52596064C>T	uc001jjj.3	-	5	562	c.374G>A	c.(373-375)cGc>cAc	p.R125H	A1CF_uc010qho.2_Missense_Mutation_p.R133H|A1CF_uc010qhn.2_Missense_Mutation_p.R133H|A1CF_uc009xov.3_Missense_Mutation_p.R125H|A1CF_uc001jji.3_Missense_Mutation_p.R125H|A1CF_uc001jjh.3_Missense_Mutation_p.R133H	NM_138932	NP_620310	Q9NQ94	A1CF_HUMAN	Homo sapiens APOBEC1 complementation factor (A1CF), transcript variant 2, mRNA.	125	RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCCTAAGAGGCGCCCATTTCT	0.438													T	52596064	C	T	52596064	3	4	185	1	0	0	0	0	1	0	0	0	2	768	27	1	1442	1	A1CF	10	52596064	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	1652677	52596064	82938683	26	12820											
CNNM1	26507	broad.mit.edu	37	chr10	101147663	101147663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatggaggccttcacagaCggggactccactaaggcccc	10	5	12	14	1	1	1	1	0	0	1	2	4	2	3	4	5	0	0	4	5	1	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr10:101147663C>T	uc010qpi.2	+	8	2779	c.2490C>T	c.(2488-2490)gaC>gaT	p.D830D	CNNM1_uc001kpp.4_Silent_p.D809D|CNNM1_uc009xwf.3_Silent_p.D809D|CNNM1_uc009xwg.3_Silent_p.D209D	NM_020348	NP_065081	Q9NRU3	CNNM1_HUMAN	Homo sapiens cyclin M1 (CNNM1), mRNA.	809					ion transport	integral to membrane|plasma membrane		p.D444D(1)|p.D809D(1)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CCTTCACAGACGGGGACTCCA	0.602													T	101147663	C	T	101147663	2	4	185	1	0	0	0	0	0	0	0	1	3643	535	19	1		1	CNNM1	10	101147663	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	48551599	101147663	34387084	27	12821											
DCHS1	8642	broad.mit.edu	37	chr11	6654846	6654846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaccacagaattggccCgtctggccaagggccaggct	8	6	13	14	1	1	1	0	0	1	1	1	1	1	1	4	4	1	3	4	4	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:6654846C>T	uc001mem.1	-	4	2653	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q		NM_003737	NP_003728	Q96JQ0	PCD16_HUMAN	Homo sapiens dachsous 1 (Drosophila) (DCHS1), mRNA.	751	Cadherin 7.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R751W(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGAATTGGCCCGTCTGGCCAA	0.547													T	6654846	C	T	6654846	3	4	185	1	0	0	0	0	1	0	0	0	4321	652	23	1	7712	1	DCHS1	11	6654846	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		6654846	128351670	28	12822											
OR4C6	219432	broad.mit.edu	37	chr11	55432767	55432767	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtgctggaaaatctacTtattgtggtaactattatca	13	14	7	7	0	2	0	1	0	1	0	2	1	2	1	0	2	3	2	0	2	7	6			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:55432767T>A	uc010rik.2	+	0	125	c.125T>A	c.(124-126)cTt>cAt	p.L42H		NM_001004704	NP_001004704	Q8NH72	OR4C6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 6 (OR4C6), mRNA.	42					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GAAAATCTACTTATTGTGGTA	0.393													A	55432767	T	A	55432767	3	1	185	1	0	0	0	0	1	0	0	0	11128	1609	56	5	127	5	OR4C6	11	55432767	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	48777921	55432767	79573749	29	12823											
TMEM109	79073	broad.mit.edu	37	chr11	60687272	60687272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcattggcccagtcccGtcgagactttgcaccaccag	8	8	9	16	2	1	1	1	0	0	1	3	2	2	1	4	1	2	2	4	1	0	2	rs139328208		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:60687272G>A	uc001nqg.3	+	1	485	c.107G>A	c.(106-108)cGt>cAt	p.R36H		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	36						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						GCCCAGTCCCGTCGAGACTTT	0.547													A	60687272	G	A	60687272	3	1	185	1	0	0	0	0	1	0	0	0	16125	1145	40	1	109	1	TMEM109	11	60687272	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	5254505	60687272	74319244	30	12824											
NXF1	10482	broad.mit.edu	37	chr11	62561731	62561731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatgccccgcactcactTctgggaccactcgaggttca	9	8	8	16	2	3	0	2	0	1	0	4	2	3	1	3	2	1	2	3	2	0	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:62561731T>C	uc001nvf.1	-	19	1896	c.1760_splice	c.e19+1	p.K587_splice	TMEM223_uc001nve.2_5'Flank|NXF1_uc001nvg.1_Splice_Site|NXF1_uc009yog.1_Splice_Site	NM_006362	NP_006353	Q9UBU9	NXF1_HUMAN	Homo sapiens nuclear RNA export factor 1 (NXF1), transcript variant 1, mRNA.	587	TAP-C.				gene expression|interspecies interaction between organisms	cytosol|nuclear speck	nucleotide binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGCACTCACTTCTGGGACCAC	0.517													C	62561731	T	C	62561731	3	2	185	1	0	0	0	0	1	0	0	0	10858	1797	62	3	112	3	NXF1	11	62561731	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	1874459	62561731	72444785	31	12825											
MAP4K2	5871	broad.mit.edu	37	chr11	64559447	64559448	+	Frame_Shift_Ins	INS	-	-	G																															acatggaacaggacgcggcaINSgccgggcccctcaggcccct																										TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr11:64559447_64559448insG	uc001obh.3	-	26	2117_2118	c.2025_2026insC	c.(2023-2028)ggctgcfs	p.G675fs	MAP4K2_uc001obi.3_Frame_Shift_Ins_p.G667fs	NM_004579	NP_004570	Q12851	M4K2_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 2 (MAP4K2), mRNA.	675	CNH.				activation of JUN kinase activity|immune response|positive regulation of JNK cascade|vesicle targeting	basolateral plasma membrane|Golgi membrane|soluble fraction	ATP binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(1)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(2)	8						AGGACGCGGCAGCCGGGCCCCT	0.708													G	64559448	-	G	64559447	7	5	185	1	0	1	1	0	0	0	0	0	9335	188	7	0	460	0	MAP4K2	11	64559447	Frame_Shift_Ins	INS	-	TCGA-27-1833-01A-01W-0643-08	1997716	64559447	70447069	32	12826											
SLCO1B3	28234	broad.mit.edu	37	chr12	21229466	21229466	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacagctgtggagcaCgaggggcttgtaggatatat	11	8	13	9	1	0	0	0	0	0	0	0	3	0	2	2	4	3	4	2	4	4	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:21229466C>T	uc010sil.2	+	14	2076	c.2011C>T	c.(2011-2013)Cga>Tga	p.R671*	SLCO1B3_uc010sim.2_Nonsense_Mutation_p.R610*|SLCO1B3_uc010sin.2_Nonsense_Mutation_p.R563*			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.	638					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTGTGGAGCACGAGGGGCTTG	0.358													T	21229466	C	T	21229466	4	4	185	1	0	0	0	0	0	1	0	0	14818	528	19	1		1	SLCO1B3	12	21229466	Nonsense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		21229466	112622429	33	12827											
STAC3	246329	broad.mit.edu	37	chr12	57642900	57642900	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatttgtggggcttatcGttgaccagcttaggaggttc	7	15	13	6	1	0	2	0	2	0	0	2	3	0	3	1	4	1	4	1	4	3	6	rs148939626		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr12:57642900G>A	uc001snp.2	-	2	460	c.258C>T	c.(256-258)aaC>aaT	p.N86N	STAC3_uc009zpl.2_Intron|STAC3_uc001snq.2_Silent_p.N47N|STAC3_uc010srm.1_Intron	NM_145064	NP_659501	Q96MF2	STAC3_HUMAN	Homo sapiens SH3 and cysteine rich domain 3 (STAC3), mRNA.	86					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GGGGCTTATCGTTGACCAGCT	0.507													A	57642900	G	A	57642900	2	1	185	1	0	0	0	0	0	0	0	1	15337	1136	40	1		1	STAC3	12	57642900	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	36413434	57642900	76208995	34	12828											
SACS	26278	broad.mit.edu	37	chr13	23908788	23908788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtggtaaagattagcaGtttcatcacagttataaacc	15	11	8	7	0	2	1	2	0	0	1	2	2	2	1	1	1	2	4	1	1	6	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr13:23908788G>T	uc001uon.2	-	9	9816	c.9227C>A	c.(9226-9228)aCt>aAt	p.T3076N	SACS_uc001uoo.2_Missense_Mutation_p.T2929N|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	3076					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGATTAGCAGTTTCATCACA	0.358													T	23908788	G	T	23908788	3	4	185	1	0	0	0	0	1	0	0	0	13895	1029	36	4	4516	4	SACS	13	23908788	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		23908788	91261090	35	12829											
SPTB	6710	broad.mit.edu	37	chr14	65270332	65270332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaacccacctggaagCggaggatgatggtccagatg	11	5	14	11	1	0	2	0	1	0	1	1	6	1	6	4	5	2	0	4	5	2	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr14:65270332C>T	uc001xht.3	-	2	518	c.467G>A	c.(466-468)cGc>cAc	p.R156H	SPTB_uc001xhr.3_Missense_Mutation_p.R156H|SPTB_uc001xhs.3_Missense_Mutation_p.R156H|SPTB_uc001xhu.3_Missense_Mutation_p.R156H	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	156	Actin-binding.|CH 1.				actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CACCTGGAAGCGGAGGATGAT	0.572													T	65270332	C	T	65270332	3	4	185	1	0	0	0	0	1	0	0	0	15214	768	27	1	6720	1	SPTB	14	65270332	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		65270332	42079208	36	12830											
WDR72	256764	broad.mit.edu	37	chr15	53992060	53992060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgcttccgggcatgcAggaggcaactctttccctca	9	9	11	12	1	2	0	1	0	1	0	4	1	4	1	2	4	3	4	2	4	2	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:53992060A>T	uc002acj.2	-	12	1694	c.1652T>A	c.(1651-1653)cTg>cAg	p.L551Q	WDR72_uc010bfi.1_Missense_Mutation_p.L551Q	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	551										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CCGGGCATGCAGGAGGCAACT	0.463													T	53992060	A	T	53992060	3	4	185	1	0	0	0	0	1	0	0	0	17424	188	7	5	1688	5	WDR72	15	53992060	Missense_Mutation	SNP	A	TCGA-27-1833-01A-01W-0643-08		53992060	48539332	37	12831											
MEF2A	4205	broad.mit.edu	37	chr15	100230497	100230497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaatttgattggagctactgGtgcaaatagcttaggcaaag	14	11	11	5	0	0	1	0	1	0	0	0	2	0	2	0	3	4	4	0	3	6	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr15:100230497G>A	uc010urw.2	+	6	1087	c.728G>A	c.(727-729)gGt>gAt	p.G243D	MEF2A_uc002bve.3_Missense_Mutation_p.G241D|MEF2A_uc002bvg.3_Missense_Mutation_p.G241D|MEF2A_uc010urv.2_Missense_Mutation_p.G173D|MEF2A_uc010bos.3_Missense_Mutation_p.G241D|MEF2A_uc002bvf.3_Missense_Mutation_p.G243D|MEF2A_uc002bvi.3_Missense_Mutation_p.G241D|MEF2A_uc010bot.3_Missense_Mutation_p.G173D	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	243					apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAGCTACTGGTGCAAATAGC	0.413													A	100230497	G	A	100230497	3	1	185	1	0	0	0	0	1	0	0	0	9530	1261	44	2	886	2	MEF2A	15	100230497	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	46238437	100230497	2300895	38	12832											
CACNA1H	8912	broad.mit.edu	37	chr16	1255218	1255218	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcggccctctgggctaCatccggaacccgtacaacat	8	7	10	16	3	1	0	0	0	1	0	2	1	2	1	4	3	5	2	4	3	4	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1255218C>A	uc002cks.3	+	10	2804	c.2556C>A	c.(2554-2556)taC>taA	p.Y852*	CACNA1H_uc002ckt.3_Nonsense_Mutation_p.Y852*	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	852					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTCTGGGCTACATCCGGAACC	0.597													A	1255218	C	A	1255218	4	1	185	1	0	0	0	0	0	1	0	0	2571	489	17	4	2594	4	CACNA1H	16	1255218	Nonsense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08		1255218	89099535	39	12833											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1816093	1816093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccgctgcaacgtgccgcGgagcaactgctcctcccgag	7	5	11	18	5	0	0	0	0	0	0	2	2	2	1	4	1	6	4	4	1	2	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:1816093G>A	uc010uvl.2	+	20	2699	c.2579G>A	c.(2578-2580)cGg>cAg	p.R860Q	MAPK8IP3_uc002cmk.3_Missense_Mutation_p.R859Q|MAPK8IP3_uc002cml.3_Missense_Mutation_p.R849Q|MAPK8IP3_uc021tah.1_Missense_Mutation_p.R853Q	NM_015133	NP_055948	Q9UPT6	JIP3_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 3 (MAPK8IP3), transcript variant 1, mRNA.	859					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding	p.R859Q(2)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AACGTGCCGCGGAGCAACTGC	0.662													A	1816093	G	A	1816093	3	1	185	1	0	0	0	0	1	0	0	0	9361	1116	39	1	2674	1	MAPK8IP3	16	1816093	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	560875	1816093	88538660	40	12834											
SCNN1G	6340	broad.mit.edu	37	chr16	23200784	23200784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccagagtcccggaagcGccgagaggcggagtcctgga	8	6	15	12	4	0	2	0	0	0	2	3	6	3	5	4	4	1	0	4	4	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:23200784G>A	uc002dlm.1	+	2	549	c.410G>A	c.(409-411)cGc>cAc	p.R137H		NM_001039	NP_001030	P51170	SCNNG_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, gamma (SCNN1G), mRNA.	137					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	TCCCGGAAGCGCCGAGAGGCG	0.577													A	23200784	G	A	23200784	3	1	185	1	0	0	0	0	1	0	0	0	14023	1087	38	1	416	1	SCNN1G	16	23200784	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	21384691	23200784	67153969	41	12835											
IL4R	3566	broad.mit.edu	37	chr16	27357789	27357789	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggccgcttctcccgcagtGaaacccagggccccaggaaa	10	4	12	15	2	1	1	0	1	1	0	2	3	1	2	5	3	1	2	5	3	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr16:27357789G>A	uc002don.3	+	6	604	c.362_splice	c.e6-1	p.V121_splice	IL4R_uc002dom.3_Splice_Site_p.V121_splice|IL4R_uc002dop.4_Splice_Site_p.V106_splice|IL4R_uc010bxy.3_Splice_Site_p.V121_splice|IL4R_uc002doo.3_Splice_Site	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	121					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CTCCCGCAGTGAAACCCAGGG	0.567													A	27357789	G	A	27357789	2	1	185	1	0	0	0	0	0	0	0	1	7756	1304	45	2		2	IL4R	16	27357789	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	4157005	27357789	62996964	42	12836											
DNAH9	1770	broad.mit.edu	37	chr17	11684359	11684359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctctggaaaagaaggctgGcagaaactatggccctccag	12	6	12	11	0	1	2	0	0	1	2	2	3	2	3	3	4	1	2	3	4	5	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:11684359G>A	uc002gne.3	+	38	7654	c.7586G>A	c.(7585-7587)gGc>gAc	p.G2529D	DNAH9_uc010coo.3_Missense_Mutation_p.G1823D	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2529	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAGAAGGCTGGCAGAAACTAT	0.542													A	11684359	G	A	11684359	3	1	185	1	0	0	0	0	1	0	0	0	4647	1203	42	2	7740	2	DNAH9	17	11684359	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		11684359	69510851	43	12837											
CDRT15	146822	broad.mit.edu	37	chr17	14140072	14140072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggatgagccttcttcGgcatcgtcggaaaaggctct	8	10	14	9	3	2	2	0	2	2	0	5	4	2	4	1	4	1	2	1	4	2	2	rs147270904	byFrequency	TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:14140072G>A	uc010vvu.2	-	0	79	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.	27								p.R27*(2)		endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGCCTTCTTCGGCATCGTCGG	0.597													A	14140072	G	A	14140072	4	1	185	1	0	0	0	0	0	1	0	0	3205	1124	39	1	497	1	CDRT15	17	14140072	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2455713	14140072	67055138	44	12838											
CCL3	6348	broad.mit.edu	37	chr17	34416095	34416095	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacagacctgccggcttcGcttggttaggaagctgtgga	8	9	14	10	2	0	1	0	0	0	1	1	3	0	3	2	4	3	5	2	4	2	3	rs5029409		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:34416095G>A	uc002hkv.3	-	2	304	c.202C>T	c.(202-204)Cga>Tga	p.R68*		NM_002983	NP_002974	P10147	CCL3_HUMAN	Homo sapiens chemokine (C-C motif) ligand 3 (CCL3), mRNA.	68		Involved in GAG binding.			cell-cell signaling|cellular calcium ion homeostasis|cellular component movement|cytoskeleton organization|exocytosis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|regulation of viral genome replication	extracellular space|soluble fraction	chemoattractant activity|chemokine activity|signal transducer activity			breast(2)|lung(3)|urinary_tract(1)	6		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGCCGGCTTCGCTTGGTTAGG	0.597													A	34416095	G	A	34416095	4	1	185	1	0	0	0	0	0	1	0	0	2929	1095	38	1	80	1	CCL3	17	34416095	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	20276023	34416095	46779115	45	12839											
JUP	3728	broad.mit.edu	37	chr17	39680449	39680449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgaagggtgcgccgcagGtcagtaacctcggacctgct	7	7	13	14	3	1	1	1	1	0	0	2	2	1	2	4	3	3	3	4	3	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:39680449G>T	uc010wfs.2	-	7	1391	c.1383C>A	c.(1381-1383)gaC>gaA	p.D461E	KRT15_uc002hxb.1_5'Flank|KRT15_uc002hxc.1_5'Flank|JUP_uc002hxd.4_Missense_Mutation_p.D298E	NM_021991	NP_068831	P14923	PLAK_HUMAN	Homo sapiens junction plakoglobin (JUP), transcript variant 2, mRNA.	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TGCGCCGCAGGTCAGTAACCT	0.577													T	39680449	G	T	39680449	3	4	185	1	0	0	0	0	1	0	0	0	8030	1252	44	4		4	JUP	17	39680449	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	5264354	39680449	41514761	46	12840											
LRRC37A2	474170	broad.mit.edu	37	chr17	45127410	45127410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtagactgatgctcgCaaacaggcctccgttctctg	8	11	10	12	2	2	3	0	2	2	1	5	3	3	3	2	1	2	4	2	1	2	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:45127410C>T	uc010wkj.1	+	1	962	c.608C>T	c.(607-609)gCa>gTa	p.A203V	ARL17_uc021tzb.1_Intron|DQ597730_uc010wkl.2_Non-coding_Transcript			A6NM11	L37A2_HUMAN	Homo sapiens cDNA FLJ42521 fis, clone BRACE3000973.	1339						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		CTGATGCTCGCAAACAGGCCT	0.473													T	45127410	C	T	45127410	3	4	185	1	0	0	0	0	1	0	0	0	9062	725	25	2		2	LRRC37A2	17	45127410	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	5446961	45127410	36067800	47	12841											
IGF2BP1	10642	broad.mit.edu	37	chr17	47115648	47115648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgagggggctttggctctCggggtcagccccgccagggc	3	6	18	14	3	2	0	1	0	1	0	3	1	2	0	4	6	1	2	4	6	0	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:47115648C>T	uc002iom.3	+	5	854	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	IGF2BP1_uc010dbj.3_Intron	NM_006546	NP_006537	Q9NZI8	IF2B1_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 1 (IGF2BP1), transcript variant 1, mRNA.	174					CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CTTTGGCTCTCGGGGTCAGCC	0.652													T	47115648	C	T	47115648	3	4	185	1	0	0	0	0	1	0	0	0	7631	875	31	1	542	1	IGF2BP1	17	47115648	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	1988238	47115648	34079562	48	12842											
SOX9	6662	broad.mit.edu	37	chr17	70117782	70117782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagccaggtgctcaaaggcTacgactggacgctggtgccc	8	7	13	13	2	2	0	2	0	0	0	2	2	2	1	2	4	4	3	2	4	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr17:70117782T>G	uc002jiw.3	+	0	622	c.250T>G	c.(250-252)Tac>Gac	p.Y84D	AK094963_uc002jiv.3_5'Flank	NM_000346	NP_000337	P48436	SOX9_HUMAN	Homo sapiens SRY (sex determining region Y)-box 9 (SOX9), mRNA.	84					cAMP-mediated signaling|negative regulation of transcription, DNA-dependent|positive regulation of branching involved in ureteric bud morphogenesis|protein complex assembly|renal vesicle induction	nucleus|protein complex	core promoter sequence-specific DNA binding|enhancer binding|protein kinase A catalytic subunit binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription			breast(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(5)|pancreas(1)|upper_aerodigestive_tract(2)	26		Colorectal(1115;0.245)	STAD - Stomach adenocarcinoma(260;0.119)			GCTCAAAGGCTACGACTGGAC	0.637													G	70117782	T	G	70117782	3	3	185	1	0	0	0	0	1	0	0	0	15052	1522	53	5	252	5	SOX9	17	70117782	Missense_Mutation	SNP	T	TCGA-27-1833-01A-01W-0643-08	23002134	70117782	11077428	49	12843											
EPB41L3	23136	broad.mit.edu	37	chr18	5406824	5406824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcctcctgcctggcGgccagtcgcacgggggaggt	4	6	18	13	3	0	0	0	0	0	0	3	1	2	1	4	7	1	2	4	7	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:5406824G>A	uc002kmt.1	-	15	2387	c.2301C>T	c.(2299-2301)gcC>gcT	p.A767A	EPB41L3_uc010wzh.1_Silent_p.A598A|EPB41L3_uc002kmu.1_Silent_p.A586A|EPB41L3_uc010dkq.1_Silent_p.A477A|EPB41L3_uc002kms.1_Silent_p.A39A|EPB41L3_uc010wze.1_Silent_p.A39A|EPB41L3_uc010wzf.1_Silent_p.A39A|EPB41L3_uc010wzg.1_Silent_p.A39A|EPB41L3_uc010dkr.2_Silent_p.A159A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	767	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCTGCCTGGCGGCCAGTCGCA	0.527													A	5406824	G	A	5406824	2	1	185	1	0	0	0	0	0	0	0	1	5195	1103	39	1		1	EPB41L3	18	5406824	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		5406824	72670424	50	12844											
SERPINB2	5055	broad.mit.edu	37	chr18	61569672	61569672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagatgatgtacttgcGtgaaaagctaaacattggat	14	12	10	5	1	0	3	0	2	0	1	0	4	0	4	0	1	5	3	0	1	6	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr18:61569672G>A	uc010xeu.2	+	7	1046	c.713G>A	c.(712-714)cGt>cAt	p.R238H	SERPINB2_uc002ljo.3_Missense_Mutation_p.R238H|SERPINB2_uc002ljp.1_Missense_Mutation_p.R43H|SERPINB2_uc002ljq.1_Missense_Mutation_p.R43H	NM_001143818	NP_002566	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 2 (SERPINB2), transcript variant 1, mRNA.	238					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGTACTTGCGTGAAAAGCTA	0.363													A	61569672	G	A	61569672	3	1	185	1	0	0	0	0	1	0	0	0	14194	1145	40	1	735	1	SERPINB2	18	61569672	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	56162848	61569672	16507576	51	12845											
CACNA1A	773	broad.mit.edu	37	chr19	13410023	13410023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctggccgcaggtgccgCgtgtaggcagccttccagcg	5	8	15	13	4	1	0	0	0	1	0	2	0	2	0	4	3	3	3	4	3	1	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:13410023C>T	uc002mwy.3	-	18	2660	c.2424G>A	c.(2422-2424)acG>acA	p.T808T	CACNA1A_uc010dzc.2_Silent_p.T334T|CACNA1A_uc010xnd.2_Silent_p.T811T|CACNA1A_uc021ups.1_Silent_p.T808T|CACNA1A_uc010xne.2_Silent_p.T811T|CACNA1A_uc010dze.2_Silent_p.T808T|CACNA1A_uc021upt.1_Silent_p.T809T	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	809					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GCAGGTGCCGCGTGTAGGCAG	0.642													T	13410023	C	T	13410023	2	4	185	1	0	0	0	0	0	0	0	1	2564	755	27	1		1	CACNA1A	19	13410023	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08		13410023	45718960	52	12846											
FCGBP	8857	broad.mit.edu	37	chr19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccagcggcctggcaggCggccacgtaggaagccagag	10	2	15	14	3	0	1	0	0	0	1	0	2	0	2	5	5	3	2	5	5	3	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:40368357C>T	uc002omp.4	-	27	12999	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	4331						extracellular region	protein binding	p.A4331T(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647													T	40368357	C	T	40368357	3	4	185	1	0	0	0	0	1	0	0	0	5827	768	27	1	3262	1	FCGBP	19	40368357	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	26958334	40368357	18760626	53	12847											
B3GNT8	374907	broad.mit.edu	37	chr19	41932065	41932066	+	Frame_Shift_Del	DEL	TG	TG	-																															gtcccagagcagcaggtcacTgtagcgacggctctcccagg																										TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:41932065_41932066delTG	uc002oqs.3	-	2	1072_1073	c.618_619delCA	c.(616-621)tacagtfs	p.Y206fs	B3GNT8_uc002oqt.1_Intron|B3GNT8_uc021uuy.1_Frame_Shift_Del_p.Y206fs	NM_198540	NP_940942	Q7Z7M8	B3GN8_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 8 (B3GNT8), mRNA.	206					poly-N-acetyllactosamine biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity|protein N-acetylglucosaminyltransferase activity			cervix(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(2)	11						AGCAGGTCACTGTAGCGACGGC	0.653													-	41932066	TG	-	41932065	7	5	185	1	0	1	0	1	0	0	0	0	1268	1580	55	0	578	0	B3GNT8	19	41932065	Frame_Shift_Del	DEL	TG	TCGA-27-1833-01A-01W-0643-08	1563708	41932065	17196918	54	12848											
GPR4	2828	broad.mit.edu	37	chr19	46094683	46094683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggggcgccgagttggCgcccagctccgtggcccaga	7	4	16	14	4	0	1	0	0	0	1	1	3	1	1	4	4	2	2	4	4	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094683C>T	uc002pcm.3	-	1	1387	c.442G>A	c.(442-444)Gcc>Acc	p.A148T	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.A148T	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	148						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		GCCGAGTTGGCGCCCAGCTCC	0.672													T	46094683	C	T	46094683	3	4	185	1	0	0	0	0	1	0	0	0	6748	768	27	1	650	1	GPR4	19	46094683	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	4162618	46094683	13034300	55	12849											
GPR4	2828	broad.mit.edu	37	chr19	46094825	46094825	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcgatgctgatgtagatAttggtgtagaagatgaaccc	13	10	13	5	1	0	5	0	2	0	3	0	6	0	5	1	2	2	3	1	2	6	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:46094825A>G	uc002pcm.3	-	1	1245	c.300T>C	c.(298-300)aaT>aaC	p.N100N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Silent_p.N100N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	100						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		TGATGTAGATATTGGTGTAGA	0.622													G	46094825	A	G	46094825	2	3	185	1	0	0	0	0	0	0	0	1	6748	446	16	3		3	GPR4	19	46094825	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08	142	46094825	13034158	56	12850											
CCDC114	93233	broad.mit.edu	37	chr19	48807021	48807021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggaggtcttccagaCgccctcggccacctccccgg	4	7	11	19	3	1	1	0	0	1	1	5	2	4	2	7	4	0	0	7	4	0	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:48807021C>T	uc002pir.2	-	7	1446	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	CCDC114_uc002piq.2_Missense_Mutation_p.V64I|CCDC114_uc002pio.3_Missense_Mutation_p.V292I|CCDC114_uc002pis.1_5'Flank|CCDC114_uc002pit.1_Missense_Mutation_p.V292I|CCDC114_uc002piu.1_Missense_Mutation_p.V292I	NM_144577	NP_653178	Q96M63	CC114_HUMAN	Homo sapiens coiled-coil domain containing 114 (CCDC114), transcript variant 2, mRNA.	255										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		GTCTTCCAGACGCCCTCGGCC	0.632													T	48807021	C	T	48807021	3	4	185	1	0	0	0	0	1	0	0	0	2777	536	19	1	1277	1	CCDC114	19	48807021	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	2712196	48807021	10321962	57	12851											
CD33	945	broad.mit.edu	37	chr19	51728525	51728525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtgcaggagtcagtgaCggtacaggagggtttgtgcg	9	8	18	6	2	1	1	1	1	0	0	1	3	1	3	0	4	3	4	0	4	2	2			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51728525C>T	uc002pwa.2	+	1	129	c.89C>T	c.(88-90)aCg>aTg	p.T30M	CD33_uc010eos.1_Missense_Mutation_p.T30M|CD33_uc010eot.1_Intron|CD33_uc010eou.1_5'Flank	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	30	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GAGTCAGTGACGGTACAGGAG	0.582													T	51728525	C	T	51728525	3	4	185	1	0	0	0	0	1	0	0	0	3035	536	19	1	95	1	CD33	19	51728525	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	2921504	51728525	7400458	58	12852											
CD33	945	broad.mit.edu	37	chr19	51729331	51729331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaccatccagctcaacGtcacctgtaagtgctgggcc	11	7	10	13	1	2	1	2	0	0	1	3	2	3	1	4	1	4	3	4	1	3	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr19:51729331G>A	uc002pwa.2	+	2	731	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CD33_uc010eos.1_Missense_Mutation_p.V231I|CD33_uc010eot.1_Missense_Mutation_p.V104I|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	231					cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	CCAGCTCAACGTCACCTGTAA	0.607													A	51729331	G	A	51729331	3	1	185	1	0	0	0	0	1	0	0	0	3035	1145	40	1	701	1	CD33	19	51729331	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	806	51729331	7399652	59	12853											
SEMG2	6407	broad.mit.edu	37	chr20	43851621	43851621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggcaagtctcaaaaccagGtaacaattcctagtcaagat	16	9	7	9	0	2	1	2	0	1	1	4	1	3	1	2	2	2	2	2	2	7	3			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:43851621G>A	uc010ggz.3	+	1	1405	c.1348G>A	c.(1348-1350)Gta>Ata	p.V450I	SEMG2_uc002xnk.3_Missense_Mutation_p.V450I|SEMG2_uc002xnl.3_Intron	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.	450	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TCAAAACCAGGTAACAATTCC	0.383													A	43851621	G	A	43851621	3	1	185	1	0	0	0	0	1	0	0	0	14138	1261	44	2	1354	2	SEMG2	20	43851621	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		43851621	19173899	60	12854											
SULF2	55959	broad.mit.edu	37	chr20	46292214	46292214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgtccagaaaggcgccGtctgccagtgctggttgtcg	6	9	14	12	4	1	1	0	0	1	1	3	1	2	1	3	2	2	2	3	2	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:46292214G>A	uc002xto.3	-	15	2540	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	SULF2_uc002xtr.3_Missense_Mutation_p.T737M|SULF2_uc002xtq.3_Missense_Mutation_p.T737M|SULF2_uc010zyd.2_Missense_Mutation_p.T16M	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	737					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GAAAGGCGCCGTCTGCCAGTG	0.597											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46292214	G	A	46292214	3	1	185	1	0	0	0	0	1	0	0	0	15467	1145	40	1	426	1	SULF2	20	46292214	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	2440593	46292214	16733306	61	12855											
ZFP64	55734	broad.mit.edu	37	chr20	50803594	50803594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagctccaccagcacCgttgtgccacctggaactcc	8	7	10	16	1	1	0	1	0	0	0	3	2	3	2	6	2	4	3	6	2	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:50803594C>T	uc002xwl.3	-	1	412	c.63G>A	c.(61-63)acG>acA	p.T21T	ZFP64_uc002xwk.3_Silent_p.T21T|ZFP64_uc002xwm.3_Silent_p.T19T|ZFP64_uc002xwn.3_Silent_p.T21T	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	21					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACCAGCACCGTTGTGCCAC	0.483													T	50803594	C	T	50803594	2	4	185	1	0	0	0	0	0	0	0	1	17753	639	23	1		1	ZFP64	20	50803594	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	4511380	50803594	12221926	62	12856											
LAMA5	3911	broad.mit.edu	37	chr20	60921843	60921843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacagtcggtggcatggccGtagcagttacaggctagaga	11	8	14	8	2	0	1	0	0	0	1	1	2	0	1	1	4	3	5	1	4	4	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr20:60921843G>A	uc002ycq.3	-	7	1153	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	LAMA5_uc021wfw.1_Silent_p.Y362Y	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	362	Laminin EGF-like 2.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCATGGCCGTAGCAGTTAC	0.667													A	60921843	G	A	60921843	2	1	185	1	0	0	0	0	0	0	0	1	8668	1140	40	1		1	LAMA5	20	60921843	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08	10118249	60921843	2103677	63	12857											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770222	19770222	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaaaactcttgagttcttAtattcattcttcagattgct	10	19	5	7	0	5	2	2	1	3	1	5	2	5	2	0	0	2	3	0	0	4	9			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:19770222A>G	uc002ykw.3	-	2	349	c.318T>C	c.(316-318)taT>taC	p.Y106Y		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	106	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTGAGTTCTTATATTCATTCT	0.249													G	19770222	A	G	19770222	2	3	185	1	0	0	0	0	0	0	0	1	16346	456	16	3		3	TMPRSS15	21	19770222	Silent	SNP	A	TCGA-27-1833-01A-01W-0643-08		19770222	28359673	64	12858											
RIPK4	54101	broad.mit.edu	37	chr21	43161519	43161519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtagtgcccgcgctgtgCggccaggtgcaatggcgtcc	4	7	17	13	5	0	0	0	0	0	0	1	0	1	0	3	4	3	3	3	4	2	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr21:43161519C>T	uc002yzn.1	-	7	1882	c.1834G>A	c.(1834-1836)Gca>Aca	p.A612T		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	612						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGCGCTGTGCGGCCAGGTGC	0.687													T	43161519	C	T	43161519	3	4	185	1	0	0	0	0	1	0	0	0	13474	768	27	1	524	1	RIPK4	21	43161519	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	23391297	43161519	4968376	65	12859											
A4GALT	53947	broad.mit.edu	37	chr22	43089430	43089430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgcgatcctggaggcGtcggagagcacgggcagcag	9	5	18	9	4	0	2	0	1	0	1	2	5	1	3	1	4	3	3	1	4	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:43089430G>A	uc003bdb.3	-	2	789	c.528C>T	c.(526-528)gaC>gaT	p.D176D	A4GALT_uc021wqo.1_Silent_p.D176D|A4GALT_uc021wqp.1_Silent_p.D176D|A4GALT_uc010gzd.3_Silent_p.D176D|A4GALT_uc021wqq.1_Silent_p.D176D	NM_017436	NP_059132	Q9NPC4	A4GAT_HUMAN	Homo sapiens alpha 1,4-galactosyltransferase (A4GALT), mRNA.	176					glycosphingolipid biosynthetic process|plasma membrane organization	Golgi stack|integral to Golgi membrane|membrane fraction	lactosylceramide 4-alpha-galactosyltransferase activity	p.S175S(1)		NS(1)|central_nervous_system(2)|large_intestine(6)|skin(1)|urinary_tract(1)	11						TCCTGGAGGCGTCGGAGAGCA	0.652													A	43089430	G	A	43089430	2	1	185	1	0	0	0	0	0	0	0	1	6	1136	40	1		1	A4GALT	22	43089430	Silent	SNP	G	TCGA-27-1833-01A-01W-0643-08		43089430	8215136	66	12860											
SHANK3	85358	broad.mit.edu	37	chr22	51159629	51159629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagctctggcctcccaggCgccctcccggtcccccacac	4	5	10	22	3	1	0	0	0	1	0	4	1	4	0	6	3	1	1	6	3	0	0			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chr22:51159629C>T	uc003bne.1	+	21	3416	c.3416C>T	c.(3415-3417)gCg>gTg	p.A1139V	SHANK3_uc003bnf.1_Missense_Mutation_p.A586V	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1139										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GCCTCCCAGGCGCCCTCCCGG	0.711													T	51159629	C	T	51159629	3	4	185	1	0	0	0	0	1	0	0	0	14360	768	27	1	3502	1	SHANK3	22	51159629	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	8070199	51159629	144937	67	12861											
MAGEB4	4115	broad.mit.edu	37	chrX	30260469	30260469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccaccacctctgctgctGcagctatgtcatgcactgga	8	9	8	16	0	2	0	1	0	1	0	2	1	2	1	3	1	5	5	3	1	1	1			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:30260469G>A	uc004dcb.3	+	0	413	c.217G>A	c.(217-219)Gca>Aca	p.A73T	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	73										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CTCTGCTGCTGCAGCTATGTC	0.527													A	30260469	G	A	30260469	3	1	185	1	0	0	0	0	1	0	0	0	9253	1319	46	2	219	2	MAGEB4	23	30260469	Missense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08		30260469	125010091	68	12862											
CCDC120	90060	broad.mit.edu	37	chrX	48923077	48923077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatctggggggagccctgagCggcgaaccccatggaaacca	10	5	14	12	2	1	1	0	1	1	0	1	4	1	3	4	5	4	0	4	5	3	1	rs148446381		TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:48923077C>T	uc011mmr.2	+	7	1067	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	CCDC120_uc010nik.3_Missense_Mutation_p.R259W|CCDC120_uc011mmq.2_Missense_Mutation_p.R247W|CCDC120_uc004dmf.3_Missense_Mutation_p.R259W|CCDC120_uc010nil.3_Missense_Mutation_p.R259W|CCDC120_uc011mms.2_Missense_Mutation_p.R247W|CCDC120_uc022bvz.1_5'Flank	NM_001163321	NP_001156793	Q96HB5	CC120_HUMAN	Homo sapiens coiled-coil domain containing 120 (CCDC120), transcript variant 1, mRNA.	259							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						GAGCCCTGAGCGGCGAACCCC	0.642													T	48923077	C	T	48923077	3	4	185	1	0	0	0	0	1	0	0	0	2782	759	27	1	797	1	CCDC120	23	48923077	Missense_Mutation	SNP	C	TCGA-27-1833-01A-01W-0643-08	18662608	48923077	106347483	69	12863											
BRWD3	254065	broad.mit.edu	37	chrX	79938109	79938109	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaataaggcagataatcGcagcatcatgctatagatct	15	11	7	8	1	3	2	2	0	1	2	4	2	3	2	0	1	2	4	0	1	5	5			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:79938109G>A	uc004edt.3	-	37	4515	c.4252C>T	c.(4252-4254)Cga>Tga	p.R1418*	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Nonsense_Mutation_p.R1247*|BRWD3_uc004edq.3_Nonsense_Mutation_p.R1014*|BRWD3_uc010nmj.2_Nonsense_Mutation_p.R1014*|BRWD3_uc004edr.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eds.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edo.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edu.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004edv.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edw.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edx.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edy.3_Nonsense_Mutation_p.R1014*|BRWD3_uc004edz.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eea.3_Nonsense_Mutation_p.R1088*|BRWD3_uc004eeb.3_Nonsense_Mutation_p.R1014*	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	1418										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						GCAGATAATCGCAGCATCATG	0.338													A	79938109	G	A	79938109	4	1	185	1	0	0	0	0	0	1	0	0	1535	1095	38	1	1172	1	BRWD3	23	79938109	Nonsense_Mutation	SNP	G	TCGA-27-1833-01A-01W-0643-08	31015032	79938109	75332451	70	12864											
NXF3	56000	broad.mit.edu	37	chrX	102334798	102334798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtcatagatcaagtaataCctgttggagaccagtgagga	14	9	12	6	0	2	3	2	1	0	2	2	6	2	4	2	2	1	2	2	2	4	4			TCGA-27-1833-01A-01W-0643-08	TCGA-27-1833-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d8d34d9-7069-436c-84d6-ace5760c2aec	f8e118cf-6937-4ff5-a3d2-77fb32519488	g.chrX:102334798C>T	uc004eju.3	-	13	1124	c.1053_splice	c.e13-1	p.Q351_splice	NXF3_uc010noi.1_Splice_Site_p.Q201_splice	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	351	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAAGTAATACCTGTTGGAGA	0.493													T	102334798	C	T	102334798	2	4	185	1	0	0	0	0	0	0	0	1	10861	521	18	2		2	NXF3	23	102334798	Silent	SNP	C	TCGA-27-1833-01A-01W-0643-08	22396689	102334798	52935762	71	12865											
DVL1	1855	broad.mit.edu	37	chr1	1275475	1275475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggccacagccccgcccttCatgatggagccaatgtagat	9	7	11	14	2	1	2	1	1	0	1	1	3	1	3	5	2	2	1	5	2	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:1275475C>T	uc001aer.4	-	7	899	c.852G>A	c.(850-852)atG>atA	p.M284I	DVL1_uc009vka.3_5'UTR|DVL1_uc002quu.3_Missense_Mutation_p.M1I|DVL1_uc001aeu.1_5'UTR	NM_004421	NP_004412	O14640	DVL1_HUMAN	Homo sapiens dishevelled, dsh homolog 1 (Drosophila) (DVL1), mRNA.	284	PDZ.				canonical Wnt receptor signaling pathway|dendrite morphogenesis|intracellular signal transduction|negative regulation of protein binding|negative regulation of protein kinase activity|neural tube development|neuromuscular junction development|neurotransmitter secretion|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|receptor clustering|transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, planar cell polarity pathway	cytoplasmic membrane-bounded vesicle|cytosol|plasma membrane|synapse|synaptosome	frizzled binding|identical protein binding|protein kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CCCCGCCCTTCATGATGGAGC	0.627													T	1275475	C	T	1275475	3	4	186	1	0	0	0	0	1	0	0	0	4874	826	29	2	1192	2	DVL1	1	1275475	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		1275475	247975146	1	12866											
AGL	178	broad.mit.edu	37	chr1	100382185	100382185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctattgggtattttcttcGtgcaaaattatatttttcca	9	19	6	7	1	1	0	0	0	1	0	3	0	2	0	2	1	1	2	2	1	6	10			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:100382185G>A	uc001dsi.1	+	32	4779	c.4379G>A	c.(4378-4380)cGt>cAt	p.R1460H	AGL_uc001dsj.1_Missense_Mutation_p.R1460H|AGL_uc001dsk.1_Missense_Mutation_p.R1460H|AGL_uc001dsl.1_Missense_Mutation_p.R1460H|AGL_uc001dsm.1_Missense_Mutation_p.R1444H|AGL_uc001dsn.1_Missense_Mutation_p.R1443H	NM_000642	NP_000635	P35573	GDE_HUMAN	Homo sapiens amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase (AGL), transcript variant 1, mRNA.	1460					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TATTTTCTTCGTGCAAAATTA	0.308													A	100382185	G	A	100382185	3	1	186	1	0	0	0	0	1	0	0	0	384	1145	40	1	4574	1	AGL	1	100382185	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	99106710	100382185	148868436	2	12867											
DENND2C	163259	broad.mit.edu	37	chr1	115143493	115143493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtgatggtgcgtccaggaGctgggaaaggagcttccatg	8	9	16	8	1	0	1	0	1	0	0	2	4	2	4	2	4	3	2	2	4	1	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:115143493G>A	uc001efd.1	-	13	2606	c.1904C>T	c.(1903-1905)gCt>gTt	p.A635V	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.A578V	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	635	DENN.							p.R635H(1)		NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCGTCCAGGAGCTGGGAAAGG	0.448													A	115143493	G	A	115143493	3	1	186	1	0	0	0	0	1	0	0	0	4469	971	34	2	914	2	DENND2C	1	115143493	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	14761308	115143493	134107128	3	12868											
SPAG17	200162	broad.mit.edu	37	chr1	118598400	118598400	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgctagcagaagtaagtTtggcattagcagaagatttc	12	14	10	5	0	0	3	0	0	0	3	1	3	0	3	0	1	3	6	0	1	5	7			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:118598400T>A	uc001ehk.2	-	18	2746	c.2678A>T	c.(2677-2679)aAa>aTa	p.K893I	SPAG17_uc021oss.1_Intron	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	893						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGAAGTAAGTTTGGCATTAGC	0.323													A	118598400	T	A	118598400	3	1	186	1	0	0	0	0	1	0	0	0	15075	1841	64	5	4113	5	SPAG17	1	118598400	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	3454907	118598400	130652221	4	12869											
FLG	2312	broad.mit.edu	37	chr1	152276824	152276824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtgtctagagctgtccGcctgagtggaagcttcatgg	7	11	15	8	1	2	3	1	2	1	1	3	4	3	4	2	2	2	2	2	2	2	2	rs143278829	by1000genomes	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152276824G>A	uc001ezu.1	-	2	10574	c.10538C>T	c.(10537-10539)gCg>gTg	p.A3513V		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3513	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A3513A(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGAGCTGTCCGCCTGAGTGGA	0.562									Ichthyosis				A	152276824	G	A	152276824	3	1	186	1	0	0	0	0	1	0	0	0	5971	1087	38	1	1651	1	FLG	1	152276824	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	33678424	152276824	96973797	5	12870											
FLG	2312	broad.mit.edu	37	chr1	152286487	152286487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctaactctggatcccctaCgctttcttgtcctggactcc	5	13	8	15	1	2	0	0	0	2	0	5	2	5	2	4	3	2	2	4	3	2	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152286487C>T	uc001ezu.1	-	2	911	c.875G>A	c.(874-876)cGt>cAt	p.R292H	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	292	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCCTACGCTTTCTTGT	0.502									Ichthyosis				T	152286487	C	T	152286487	3	4	186	1	0	0	0	0	1	0	0	0	5971	536	19	1	11314	1	FLG	1	152286487	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	9663	152286487	96964134	6	12871											
CRNN	49860	broad.mit.edu	37	chr1	152382849	152382849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacagtctgggtggcacCtgcctgggtctgagttccag	5	10	13	13	0	2	1	0	1	2	0	4	1	4	1	4	3	1	2	4	3	0	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:152382849C>A	uc001ezx.2	-	2	783	c.709G>T	c.(709-711)Ggt>Tgt	p.G237C		NM_016190	NP_057274	Q9UBG3	CRNN_HUMAN	Homo sapiens cornulin (CRNN), mRNA.	237	Gln-rich.				cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGTGGCACCTGCCTGGGTC	0.582													A	152382849	C	A	152382849	3	1	186	1	0	0	0	0	1	0	0	0	3923	681	24	4	782	4	CRNN	1	152382849	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	96362	152382849	96867772	7	12872											
CACNA1E	777	broad.mit.edu	37	chr1	181549749	181549749	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattctagaaggatttgAcccccctcacccatgtggtg	9	11	10	11	0	2	2	1	1	1	1	2	3	2	3	4	3	0	1	4	3	3	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr1:181549749A>T	uc009wxt.3	+	5	983	c.788A>T	c.(787-789)gAc>gTc	p.D263V	CACNA1E_uc001gow.3_Missense_Mutation_p.D263V|CACNA1E_uc009wxs.3_Missense_Mutation_p.D263V|CACNA1E_uc009wxr.3_Missense_Mutation_p.D170V	NM_001205293	NP_001192222	Q15878	CAC1E_HUMAN	Homo sapiens calcium channel, voltage-dependent, R type, alpha 1E subunit (CACNA1E), transcript variant 1, mRNA.	263					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GAAGGATTTGACCCCCCTCAC	0.507													T	181549749	A	T	181549749	3	4	186	1	0	0	0	0	1	0	0	0	2568	275	10	5	810	5	CACNA1E	1	181549749	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	29166900	181549749	67700872	8	12873											
LHCGR	3973	broad.mit.edu	37	chr2	48958384	48958384	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatttttatgacctcattaAgtcctctgaaagcttgagat	12	15	6	8	0	2	3	1	3	1	1	3	4	3	3	2	0	1	1	2	0	3	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:48958384A>T	uc002rwu.4	-	1	285	c.215T>A	c.(214-216)cTt>cAt	p.L72H	STON1-GTF2A1L_uc021vhf.1_Intron|LHCGR_uc002rwv.2_Non-coding_Transcript	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	72					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	GACCTCATTAAGTCCTCTGAA	0.338													T	48958384	A	T	48958384	3	4	186	1	0	0	0	0	1	0	0	0	8822	72	3	5	1924	5	LHCGR	2	48958384	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08		48958384	194240989	9	12874											
TSGA10	80705	broad.mit.edu	37	chr2	99636771	99636771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgccaaacaaaggtgttCtttaagaagctgaatttcag	13	13	8	7	0	3	2	1	1	2	1	3	2	3	2	1	1	3	2	1	1	5	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:99636771C>T	uc002szg.4	-	15	2417	c.1789G>A	c.(1789-1791)Gaa>Aaa	p.E597K	TSGA10_uc002szh.4_Missense_Mutation_p.E597K|TSGA10_uc002szi.4_Missense_Mutation_p.E597K|TSGA10_uc010fin.1_Missense_Mutation_p.E597K	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	597	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CAAAGGTGTTCTTTAAGAAGC	0.323													T	99636771	C	T	99636771	3	4	186	1	0	0	0	0	1	0	0	0	16718	922	32	2	323	2	TSGA10	2	99636771	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	50678387	99636771	143562602	10	12875											
GPD2	2820	broad.mit.edu	37	chr2	157439407	157439407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagagttccaattccagtgGaccgtagttgtggaggattg	10	11	14	6	1	0	1	0	0	0	1	2	5	2	4	3	3	0	3	3	3	3	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:157439407G>A	uc002tzf.4	+	16	2521	c.2161G>A	c.(2161-2163)Gac>Aac	p.D721N	GPD2_uc010zch.2_Missense_Mutation_p.D494N|GPD2_uc002tzd.4_Missense_Mutation_p.D721N|GPD2_uc002tze.1_Non-coding_Transcript|GPD2_uc021vrl.1_5'Flank	NM_001083112	NP_001076581	P43304	GPDM_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 2 (mitochondrial) (GPD2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	721					cellular lipid metabolic process	glycerol-3-phosphate dehydrogenase complex|mitochondrial inner membrane	calcium ion binding|sn-glycerol-3-phosphate:ubiquinone-8 oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|stomach(1)	22						AATTCCAGTGGACCGTAGTTG	0.443													A	157439407	G	A	157439407	3	1	186	1	0	0	0	0	1	0	0	0	6660	1174	41	2	2223	2	GPD2	2	157439407	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	57802636	157439407	85759966	11	12876											
XIRP2	129446	broad.mit.edu	37	chr2	168098387	168098387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagatcctttattctgaCaaagagatgacaaccccagc	16	8	7	10	0	1	4	0	2	1	2	2	6	2	4	3	0	2	0	3	0	5	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:168098387C>T	uc002udx.3	+	7	1232	c.1143C>T	c.(1141-1143)gaC>gaT	p.D381D	XIRP2_uc010fpn.3_Silent_p.D414D|XIRP2_uc010fpo.3_Silent_p.D381D|XIRP2_uc002udy.3_Silent_p.D206D|XIRP2_uc010fpq.3_Silent_p.D159D|XIRP2_uc010fpr.3_Silent_p.D159D	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	206					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTATTCTGACAAAGAGATGA	0.368													T	168098387	C	T	168098387	2	4	186	1	0	0	0	0	0	0	0	1	17532	477	17	2		2	XIRP2	2	168098387	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	10658980	168098387	75100986	12	12877											
ALS2CR8	79800	broad.mit.edu	37	chr2	203846966	203846966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccttcaaagagatacaTgcttaacccaaaacaatagt	18	9	5	9	0	1	1	1	0	0	1	1	2	1	1	2	0	5	1	2	0	8	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:203846966T>C	uc002uzo.2	+	14	2141	c.1861T>C	c.(1861-1863)Tgc>Cgc	p.C621R	ALS2CR8_uc010zia.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zib.1_Missense_Mutation_p.C545R|ALS2CR8_uc010zic.1_Missense_Mutation_p.C533R|ALS2CR8_uc002uzp.2_Missense_Mutation_p.C621R	NM_001104586	NP_079020	Q8N187	AL2S8_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8 (ALS2CR8), mRNA.	621										breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	20						AAGAGATACATGCTTAACCCA	0.418													C	203846966	T	C	203846966	3	2	186	1	0	0	0	0	1	0	0	0	555	1464	51	3	1911	3	ALS2CR8	2	203846966	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	35748579	203846966	39352407	13	12878											
EPHA4	2043	broad.mit.edu	37	chr2	222428934	222428934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgcaagtccccatgaCgcccggaagactattgcagt	9	9	9	14	2	0	2	0	1	0	1	2	3	2	3	4	1	2	2	4	1	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr2:222428934C>T	uc002vmq.3	-	2	382	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	EPHA4_uc002vmr.2_Missense_Mutation_p.V114I|EPHA4_uc010zlm.1_Missense_Mutation_p.V55I	NM_004438	NP_004429	P54764	EPHA4_HUMAN	Homo sapiens EPH receptor A4 (EPHA4), mRNA.	114						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GTCCCCATGACGCCCGGAAGA	0.453													T	222428934	C	T	222428934	3	4	186	1	0	0	0	0	1	0	0	0	5210	536	19	1	2680	1	EPHA4	2	222428934	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	18581968	222428934	20770439	14	12879											
RPL32	6161	broad.mit.edu	37	chr3	12881707	12881707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctctttttgacgatcttGggcttcacaaggggtctgag	6	15	12	8	1	4	2	1	2	3	0	5	3	4	2	0	3	0	2	0	3	1	5	rs144517633		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:12881707G>A	uc003bxl.3	-	0	243	c.30C>T	c.(28-30)ccC>ccT	p.P10P	RPL32_uc003bxm.3_Silent_p.P10P|RPL32_uc003bxn.3_Silent_p.P10P	NM_001007074	NP_001007075	P62910	RL32_HUMAN	Homo sapiens ribosomal protein L32 (RPL32), transcript variant 3, mRNA.	10					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						TGACGATCTTGGGCTTCACAA	0.537													A	12881707	G	A	12881707	2	1	186	1	0	0	0	0	0	0	0	1	13673	1335	47	2		2	RPL32	3	12881707	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		12881707	185140723	15	12880											
CELSR3	1951	broad.mit.edu	37	chr3	48697393	48697393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccaggagataggtgataCgagcattctcacccacgtca	11	8	9	13	2	2	2	2	1	1	1	4	4	3	2	3	2	2	1	3	2	2	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:48697393C>T	uc003cuf.1	-	2	2885	c.2885G>A	c.(2884-2886)cGt>cAt	p.R962H	CELSR3_uc003cul.3_Missense_Mutation_p.R892H	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	892	Cadherin 7.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATAGGTGATACGAGCATTCTC	0.517													T	48697393	C	T	48697393	3	4	186	1	0	0	0	0	1	0	0	0	3253	536	19	1	7403	1	CELSR3	3	48697393	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	35815686	48697393	149325037	16	12881											
MYH15	22989	broad.mit.edu	37	chr3	108189636	108189636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgttgatccgtgccactAgccacttaaacatcctttca	9	12	5	15	1	1	1	1	1	0	0	3	1	3	1	5	0	3	1	5	0	3	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:108189636A>G	uc003dxa.1	-	13	1409	c.1352T>C	c.(1351-1353)cTa>cCa	p.L451P		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	451	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCGTGCCACTAGCCACTTAAA	0.458													G	108189636	A	G	108189636	3	3	186	1	0	0	0	0	1	0	0	0	10110	420	15	3	4604	3	MYH15	3	108189636	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	59492243	108189636	89832794	17	12882											
PHLDB2	90102	broad.mit.edu	37	chr3	111604066	111604066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagtttttgcgaccaggaGgaacttctcttgtggatctg	8	13	12	8	1	2	1	0	0	2	1	3	5	2	4	1	3	2	1	1	3	1	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:111604066G>A	uc010hqa.3	+	1	1553	c.1142G>A	c.(1141-1143)aGg>aAg	p.R381K	PHLDB2_uc003dyc.3_Missense_Mutation_p.R408K|PHLDB2_uc003dyd.3_Missense_Mutation_p.R381K|PHLDB2_uc003dyg.3_Missense_Mutation_p.R381K|PHLDB2_uc003dyh.3_Missense_Mutation_p.R381K|PHLDB2_uc003dye.4_Missense_Mutation_p.R381K|PHLDB2_uc003dyf.4_Missense_Mutation_p.R381K	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	381						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCGACCAGGAGGAACTTCTCT	0.517													A	111604066	G	A	111604066	3	1	186	1	0	0	0	0	1	0	0	0	11929	1000	35	2	1229	2	PHLDB2	3	111604066	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	3414430	111604066	86418364	18	12883											
EPHB1	2047	broad.mit.edu	37	chr3	134920351	134920351	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccgtgatccagcttgtGggtatgctcaggggcatcgc	6	11	13	11	2	2	1	2	1	0	0	4	1	3	1	2	3	2	4	2	3	1	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:134920351G>T	uc003eqt.3	+	11	2541	c.2166G>T	c.(2164-2166)gtG>gtT	p.V722V	EPHB1_uc003equ.3_Silent_p.V283V	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	722	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TCCAGCTTGTGGGTATGCTCA	0.507													T	134920351	G	T	134920351	2	4	186	1	0	0	0	0	0	0	0	1	5215	1335	47	4		4	EPHB1	3	134920351	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	23316285	134920351	63102079	19	12884											
MBNL1	4154	broad.mit.edu	37	chr3	152018056	152018056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgtagagagttccagagggGgacttgctcacggccagaca	11	7	14	9	1	1	3	1	0	0	3	2	5	2	4	2	3	1	3	2	3	1	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152018056G>A	uc003ezm.3	+	0	863	c.74G>A	c.(73-75)gGg>gAg	p.G25E	MBNL1_uc003ezh.3_Missense_Mutation_p.G25E|MBNL1_uc003ezi.3_Missense_Mutation_p.G25E|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezl.3_Missense_Mutation_p.G25E|MBNL1_uc003ezp.3_Missense_Mutation_p.G25E|MBNL1_uc003ezn.3_Missense_Mutation_p.G25E|MBNL1_uc003ezo.3_Missense_Mutation_p.G25E|MBNL1_uc003ezk.1_Non-coding_Transcript	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	25					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCAGAGGGGGACTTGCTCA	0.428													A	152018056	G	A	152018056	3	1	186	1	0	0	0	0	1	0	0	0	9428	1232	43	2	76	2	MBNL1	3	152018056	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	17097705	152018056	46004374	20	12885											
MBNL1	4154	broad.mit.edu	37	chr3	152132751	152132751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgctccagggagaacTgcaaatatcttcatccaccc	10	9	8	14	1	2	1	1	0	1	1	4	2	4	1	4	1	3	3	4	1	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:152132751T>A	uc003ezm.3	+	1	985	c.196T>A	c.(196-198)Tgc>Agc	p.C66S	MBNL1_uc003ezh.3_Missense_Mutation_p.C66S|MBNL1_uc003ezi.3_Missense_Mutation_p.C66S|MBNL1_uc003ezj.3_Missense_Mutation_p.C9S|MBNL1_uc003ezl.3_Missense_Mutation_p.C66S|MBNL1_uc003ezp.3_Missense_Mutation_p.C66S|MBNL1_uc003ezn.3_Missense_Mutation_p.C66S|MBNL1_uc003ezo.3_Missense_Mutation_p.C66S|MBNL1_uc010hvp.3_5'UTR	NM_207293	NP_997176	Q9NR56	MBNL1_HUMAN	Homo sapiens muscleblind-like (Drosophila) (MBNL1), transcript variant 3, mRNA.	66					embryonic limb morphogenesis|in utero embryonic development|myoblast differentiation|nervous system development	nucleus|stress granule	double-stranded RNA binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CAGGGAGAACTGCAAATATCT	0.393													A	152132751	T	A	152132751	3	1	186	1	0	0	0	0	1	0	0	0	9428	1580	55	5	202	5	MBNL1	3	152132751	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	114695	152132751	45889679	21	12886											
ALG3	10195	broad.mit.edu	37	chr3	183960423	183960423	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgcaggatgtggaagggTatgtgttccaggagagctcg	9	9	17	6	1	0	1	0	0	0	1	2	4	1	3	1	4	3	5	1	4	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr3:183960423T>G	uc003fne.2	-	8	1227	c.1196A>C	c.(1195-1197)tAc>tCc	p.Y399S	ALG3_uc011brc.1_Missense_Mutation_p.Y364S|ALG3_uc011brd.1_Missense_Mutation_p.Y343S|ALG3_uc011bre.1_Missense_Mutation_p.Y351S	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	399					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TGTGGAAGGGTATGTGTTCCA	0.587													G	183960423	T	G	183960423	3	3	186	1	0	0	0	0	1	0	0	0	520	1638	57	5	124	5	ALG3	3	183960423	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	31827672	183960423	14062007	22	12887											
FRAS1	80144	broad.mit.edu	37	chr4	79400664	79400664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgagtcgtgtgatattcggGcctggtgtgaccatgtccac	6	11	14	10	3	0	2	0	2	0	0	3	3	1	2	3	2	0	0	3	2	1	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:79400664G>A	uc003hlb.2	+	55	8675	c.8235G>A	c.(8233-8235)ggG>ggA	p.G2745G		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2740	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGATATTCGGGCCTGGTGTGA	0.483													A	79400664	G	A	79400664	2	1	186	1	0	0	0	0	0	0	0	1	6093	1190	42	2		2	FRAS1	4	79400664	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		79400664	111753612	23	12888											
ENPEP	2028	broad.mit.edu	37	chr4	111474494	111474494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggatttgctcaaggacaCgaaccttattaaaactcagg	13	12	8	8	1	2	0	2	0	0	0	2	3	2	2	1	3	3	1	1	3	5	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:111474494C>T	uc003iab.4	+	17	2867	c.2525C>T	c.(2524-2526)aCg>aTg	p.T842M		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	842					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTCAAGGACACGAACCTTATT	0.353													T	111474494	C	T	111474494	3	4	186	1	0	0	0	0	1	0	0	0	5169	536	19	1	2595	1	ENPEP	4	111474494	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	32073830	111474494	79679782	24	12889											
NR3C2	4306	broad.mit.edu	37	chr4	149357361	149357361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaactgccaaagctggCtgtggtggaggacacagagt	12	7	15	7	0	0	1	0	0	0	1	0	4	0	4	1	5	3	2	1	5	3	0			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr4:149357361C>T	uc003ilj.4	-	1	1015	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	NR3C2_uc003ilk.4_Missense_Mutation_p.A218T|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	218	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCAAAGCTGGCTGTGGTGGAG	0.532													T	149357361	C	T	149357361	3	4	186	1	0	0	0	0	1	0	0	0	10707	797	28	2	2334	2	NR3C2	4	149357361	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	37882867	149357361	41796915	25	12890											
SOX30	11063	broad.mit.edu	37	chr5	157078493	157078493	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggcttttgcctgccccGccttgcatcgagtctctcat	3	12	10	16	3	2	0	1	0	1	0	4	1	2	0	5	1	3	2	5	1	0	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr5:157078493G>A	uc003lxb.1	-	0	936	c.594C>T	c.(592-594)ggC>ggT	p.G198G	SOX30_uc003lxc.1_Silent_p.G198G|SOX30_uc011dds.1_Intron	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	198					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCCCCGCCTTGCATCG	0.657													A	157078493	G	A	157078493	2	1	186	1	0	0	0	0	0	0	0	1	15046	1074	38	1		1	SOX30	5	157078493	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08		157078493	23836767	26	12891											
DDR1	780	broad.mit.edu	37	chr6	30861171	30861171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgccctcatgctctggCggctgcactggcgcaggctc	4	10	12	15	2	3	0	2	0	1	0	4	0	3	0	1	4	3	5	1	4	0	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr6:30861171C>T	uc003nrv.3	+	8	1360	c.1318C>T	c.(1318-1320)Cgg>Tgg	p.R440W	DDR1_uc010jse.3_Missense_Mutation_p.R440W|DDR1_uc003nrq.3_Missense_Mutation_p.R440W|DDR1_uc003nrr.3_Missense_Mutation_p.R440W|DDR1_uc003nrs.3_Missense_Mutation_p.R440W|DDR1_uc003nrt.3_Missense_Mutation_p.R440W|DDR1_uc011dms.2_Missense_Mutation_p.R458W|DDR1_uc003nru.3_Missense_Mutation_p.R440W|DDR1_uc003nry.2_Missense_Mutation_p.R440W|DDR1_uc003nrx.2_Missense_Mutation_p.R440W|DDR1_uc003nrw.1_Missense_Mutation_p.R239W	NM_013994	NP_054700	Q08345	DDR1_HUMAN	Homo sapiens discoidin domain receptor tyrosine kinase 1 (DDR1), transcript variant 3, mRNA.	440					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	CATGCTCTGGCGGCTGCACTG	0.697													T	30861171	C	T	30861171	3	4	186	1	0	0	0	0	1	0	0	0	4370	759	27	1	1352	1	DDR1	6	30861171	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		30861171	140253896	27	12892											
THSD7A	221981	broad.mit.edu	37	chr7	11514021	11514021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacttttcttgtctgcatgCcgacagagcaggaggcctcc	7	11	11	12	1	2	2	0	1	2	1	3	4	3	3	3	2	3	2	3	2	0	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:11514021C>T	uc021zzo.1	-	7	2444	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	THSD7A_uc021zzn.1_Missense_Mutation_p.G731D	NM_015204	NP_056019	Q9UPZ6	THS7A_HUMAN	Homo sapiens thrombospondin, type I, domain containing 7A (THSD7A), mRNA.	731	TSP type-1 7.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TGTCTGCATGCCGACAGAGCA	0.512										HNSCC(18;0.044)			T	11514021	C	T	11514021	3	4	186	1	0	0	0	0	1	0	0	0	15979	739	26	2	2861	2	THSD7A	7	11514021	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		11514021	147624642	28	12893											
IGF2BP3	10643	broad.mit.edu	37	chr7	23509595	23509595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggcccagctctcgtcCgggcagtccacgaacgcgta	7	7	13	14	5	1	1	0	1	1	0	4	2	3	1	3	2	2	3	3	2	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:23509595C>T	uc003swg.3	-	0	401	c.135G>A	c.(133-135)ccG>ccA	p.P45P	IGF2BP3_uc003swh.1_Non-coding_Transcript	NM_006547	NP_006538	O00425	IF2B3_HUMAN	Homo sapiens insulin-like growth factor 2 mRNA binding protein 3 (IGF2BP3), mRNA.	45	RRM 1.				anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						AGCTCTCGTCCGGGCAGTCCA	0.697													T	23509595	C	T	23509595	2	4	186	1	0	0	0	0	0	0	0	1	7633	639	23	1		1	IGF2BP3	7	23509595	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	11995574	23509595	135629068	29	12894											
GNAT3	346562	broad.mit.edu	37	chr7	80117947	80117947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactgtaaattactgctttGaactccatgcattcttgctc	9	17	5	10	0	1	1	0	1	1	0	3	1	2	1	1	0	6	4	1	0	5	6			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:80117947G>A	uc011kgu.2	-	2	207	c.207C>T	c.(205-207)ttC>ttT	p.F69F	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	69					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTACTGCTTTGAACTCCATGC	0.338													A	80117947	G	A	80117947	2	1	186	1	0	0	0	0	0	0	0	1	6569	1281	45	2		2	GNAT3	7	80117947	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	56608352	80117947	79020716	30	12895											
TRRAP	8295	broad.mit.edu	37	chr7	98554147	98554147	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggacggccaccggagcCatcagtgcagtaagatcatg	11	8	12	10	2	2	1	2	0	0	1	2	3	2	3	3	3	2	2	3	3	2	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98554147C>T	uc003upp.3	+	41	6410	c.6201C>T	c.(6199-6201)gcC>gcT	p.A2067A	TRRAP_uc011kis.2_Silent_p.A2049A|TRRAP_uc003upr.3_Silent_p.A1766A	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2067	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCACCGGAGCCATCAGTGCAG	0.512													T	98554147	C	T	98554147	2	4	186	1	0	0	0	0	0	0	0	1	16702	581	21	2		2	TRRAP	7	98554147	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	18436200	98554147	60584516	31	12896											
TRRAP	8295	broad.mit.edu	37	chr7	98567836	98567836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacctggccgatagccaCgaccgtgccgccttcgccat	8	7	9	17	5	1	0	1	0	0	0	2	2	1	0	7	1	3	0	7	1	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:98567836C>T	uc003upp.3	+	50	7802	c.7593C>T	c.(7591-7593)caC>caT	p.H2531H	TRRAP_uc011kis.2_Silent_p.H2513H|TRRAP_uc003upr.3_Silent_p.H2230H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	2531					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCGATAGCCACGACCGTGCCG	0.632													T	98567836	C	T	98567836	2	4	186	1	0	0	0	0	0	0	0	1	16702	535	19	1		1	TRRAP	7	98567836	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	13689	98567836	60570827	32	12897											
CLCN1	1180	broad.mit.edu	37	chr7	143043325	143043325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccacaaacagcagccGgaagcaccagagcctgcagg	12	2	12	15	1	0	1	0	0	0	1	0	2	0	2	5	3	6	3	5	3	2	0			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143043325G>A	uc003wcr.1	+	17	2352	c.2265G>A	c.(2263-2265)ccG>ccA	p.P755P	CLCN1_uc011ktc.1_Silent_p.P367P	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	755					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					AACAGCAGCCGGAAGCACCAG	0.602													A	143043325	G	A	143043325	2	1	186	1	0	0	0	0	0	0	0	1	3493	1103	39	1		1	CLCN1	7	143043325	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	44475489	143043325	16095338	33	12898											
OR6B1	135946	broad.mit.edu	37	chr7	143701705	143701705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttatcctggcactggtcAtcttcctattcccactcttt	6	17	4	14	0	3	0	1	0	2	0	6	0	6	0	3	2	0	1	3	2	2	6			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr7:143701705A>G	uc003wdt.1	+	0	616	c.616A>G	c.(616-618)Atc>Gtc	p.I206V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.I206I(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGCACTGGTCATCTTCCTATT	0.458													G	143701705	A	G	143701705	3	3	186	1	0	0	0	0	1	0	0	0	11263	217	8	3	618	3	OR6B1	7	143701705	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	658380	143701705	15436958	34	12899											
HR	55806	broad.mit.edu	37	chr8	21983183	21983183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagccagttttgcagggaGagccaggcatggtatgtcct	8	11	14	8	0	0	2	0	1	0	1	1	3	1	2	3	3	3	4	3	3	1	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:21983183G>T	uc003xas.3	-	3	2133	c.1468C>A	c.(1468-1470)Ctc>Atc	p.L490I	HR_uc003xat.3_Missense_Mutation_p.L490I	NM_005144	NP_005135	O43593	HAIR_HUMAN	Homo sapiens hairless homolog (mouse) (HR), transcript variant 1, mRNA.	490							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TTTGCAGGGAGAGCCAGGCAT	0.602													T	21983183	G	T	21983183	3	4	186	1	0	0	0	0	1	0	0	0	7402	942	33	4	2165	4	HR	8	21983183	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		21983183	124380839	35	12900											
CYP11B2	1585	broad.mit.edu	37	chr8	143994857	143994857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagagcgtcatcagcaagGgaaacgctgtctacagaagc	15	5	11	10	2	3	2	2	0	1	2	3	3	3	3	0	1	5	2	0	1	5	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr8:143994857G>A	uc003yxk.1	-	5	968	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	322					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity	p.P322T(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CATCAGCAAGGGAAACGCTGT	0.632									Familial Hyperaldosteronism type I				A	143994857	G	A	143994857	3	1	186	1	0	0	0	0	1	0	0	0	4179	1232	43	2	562	2	CYP11B2	8	143994857	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	122011674	143994857	2369165	36	12901											
IFNB1	3456	broad.mit.edu	37	chr9	21077465	21077465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagactgctcatgagttttCccctggtgaaatcttctttc	7	15	8	11	0	3	3	1	2	2	1	5	3	4	3	2	1	1	3	2	1	1	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:21077465C>A	uc003zok.3	-	0	479	c.404G>T	c.(403-405)gGa>gTa	p.G135V		NM_002176	NP_002167	P01574	IFNB_HUMAN	Homo sapiens interferon, beta 1, fibroblast (IFNB1), mRNA.	135					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	CATGAGTTTTCCCCTGGTGAA	0.443													A	21077465	C	A	21077465	3	1	186	1	0	0	0	0	1	0	0	0	7604	855	30	4	163	4	IFNB1	9	21077465	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21077465	120135966	37	12902											
OR1J4	26219	broad.mit.edu	37	chr9	125281885	125281885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctctcctgtaccaatGccctgtctcacactctcctc	6	12	5	18	0	3	0	1	0	3	0	8	1	4	1	5	1	2	1	5	1	2	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:125281885G>A	uc011lyw.2	+	0	466	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_001004452	NP_001004452	Q8NGS1	OR1J4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 4 (OR1J4), mRNA.	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CTGTACCAATGCCCTGTCTCA	0.517													A	125281885	G	A	125281885	3	1	186	1	0	0	0	0	1	0	0	0	11037	1319	46	2	468	2	OR1J4	9	125281885	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	104204420	125281885	15931546	38	12903											
GTF3C4	9329	broad.mit.edu	37	chr9	135546145	135546145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctcatggtgactcggCgggagccggccgtgaagctg	5	7	16	13	5	1	2	1	2	0	0	3	3	2	3	4	4	2	1	4	4	1	0			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:135546145C>T	uc010mzv.3	+	0	418	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	DDX31_uc004cbq.1_5'Flank|DDX31_uc010mzu.1_5'Flank|DDX31_uc004cbr.1_5'Flank|DDX31_uc004cbs.2_5'Flank|GTF3C4_uc010mzw.3_Non-coding_Transcript	NM_012204	NP_036336	Q9UKN8	TF3C4_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 4, 90kDa (GTF3C4), mRNA.	54					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		GGTGACTCGGCGGGAGCCGGC	0.736													T	135546145	C	T	135546145	3	4	186	1	0	0	0	0	1	0	0	0	6930	759	27	1	162	1	GTF3C4	9	135546145	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	10264260	135546145	5667286	39	12904											
C9orf116	138162	broad.mit.edu	37	chr9	138387358	138387358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcagttatcggggccaGtcacgatgcttttctccagg	7	12	12	10	2	2	1	1	1	1	0	4	2	2	1	2	3	2	3	2	3	1	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr9:138387358G>A	uc004cft.1	-	2	390	c.326C>T	c.(325-327)aCt>aTt	p.T109I	C9orf116_uc004cfs.1_3'UTR|C9orf116_uc004cfu.1_Non-coding_Transcript	NM_001048265	NP_001041730	Q5BN46	CI116_HUMAN	Homo sapiens chromosome 9 open reading frame 116 (C9orf116), transcript variant 1, mRNA.	109															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		ATCGGGGCCAGTCACGATGCT	0.478													A	138387358	G	A	138387358	3	1	186	1	0	0	0	0	1	0	0	0	2476	1029	36	2	88	2	C9orf116	9	138387358	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	2841213	138387358	2826073	40	12905											
FAM107B	83641	broad.mit.edu	37	chr10	14564008	14564008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caattctggtttgttctgagGagcaagacccctgcgaaaga	11	10	11	9	1	2	3	0	1	2	2	2	5	2	4	2	2	2	3	2	2	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:14564008G>C	uc001ina.1	-	3	898	c.664C>G	c.(664-666)Cct>Gct	p.P222A	FAM107B_uc010qbu.1_Non-coding_Transcript|FAM107B_uc001imx.1_Missense_Mutation_p.P47A|FAM107B_uc009xjg.1_Missense_Mutation_p.P47A|FAM107B_uc001imy.1_Missense_Mutation_p.P47A|FAM107B_uc001imz.1_Missense_Mutation_p.P47A	NM_031453	NP_113641	Q9H098	F107B_HUMAN	Homo sapiens family with sequence similarity 107, member B (FAM107B), mRNA.	47										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						TTGTTCTGAGGAGCAAGACCC	0.358													C	14564008	G	C	14564008	3	2	186	1	0	0	0	0	1	0	0	0	5435	1174	41	4	264	4	FAM107B	10	14564008	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		14564008	120970739	41	12906											
PARD3	56288	broad.mit.edu	37	chr10	34663908	34663908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacttcctcttgggatttgCccactaaatctactccattt	9	15	4	13	0	2	0	0	0	2	0	4	1	4	1	3	1	3	0	3	1	4	6			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:34663908C>T	uc010qej.2	-	10	1892	c.1562G>A	c.(1561-1563)gGc>gAc	p.G521D	PARD3_uc010qep.2_Missense_Mutation_p.G477D|PARD3_uc010qeq.2_Missense_Mutation_p.G477D|PARD3_uc010qek.2_Missense_Mutation_p.G521D|PARD3_uc010qel.2_Missense_Mutation_p.G521D|PARD3_uc010qem.2_Missense_Mutation_p.G521D|PARD3_uc010qen.2_Missense_Mutation_p.G521D|PARD3_uc010qeo.2_Missense_Mutation_p.G521D|PARD3_uc001ixo.2_Missense_Mutation_p.G251D|PARD3_uc001ixr.2_Missense_Mutation_p.G521D|PARD3_uc001ixq.2_Missense_Mutation_p.G521D|PARD3_uc001ixp.2_Missense_Mutation_p.G521D|PARD3_uc001ixt.1_Missense_Mutation_p.G342D|PARD3_uc001ixu.2_Missense_Mutation_p.G477D|PARD3_uc001ixs.1_Missense_Mutation_p.G174D	NM_019619	NP_062565	Q8TEW0	PARD3_HUMAN	Homo sapiens par-3 partitioning defective 3 homolog (C. elegans) (PARD3), transcript variant 1, mRNA.	521	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGGGATTTGCCCACTAAATC	0.453													T	34663908	C	T	34663908	3	4	186	1	0	0	0	0	1	0	0	0	11519	739	26	2	2603	2	PARD3	10	34663908	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	20099900	34663908	100870839	42	12907											
PTEN	5728	broad.mit.edu	37	chr10	89720676	89720676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtttcacttttgggtaaAtacattcttcataccaggac	12	15	6	8	0	3	0	2	0	1	0	3	1	3	1	1	2	2	2	1	2	5	8			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:89720676A>G	uc001kfb.3	+	7	1859	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	276	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.V275fs*1(5)|p.R55fs*1(5)|p.N276fs*15(3)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.N276K(1)|p.V275L(1)|p.V275A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTGGGTAAATACATTCTTC	0.279		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89720676	A	G	89720676	3	3	186	1	0	0	0	0	1	0	0	0	12823	101	4	3	857	3	PTEN	10	89720676	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	55056768	89720676	45814071	43	12908											
DNMBP	23268	broad.mit.edu	37	chr10	101715528	101715528	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaattttatctggctctGtgccgggccctgccaagctc	7	12	10	12	1	2	0	0	0	2	0	3	0	2	0	3	2	3	3	3	2	4	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr10:101715528G>C	uc001kqj.2	-	3	1795	c.1703C>G	c.(1702-1704)aCa>aGa	p.T568R	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	568					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCTGGCTCTGTGCCGGGCCC	0.498													C	101715528	G	C	101715528	3	2	186	1	0	0	0	0	1	0	0	0	4713	1377	48	4	3086	4	DNMBP	10	101715528	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08	11994852	101715528	33819219	44	12909											
NELL1	4745	broad.mit.edu	37	chr11	21135236	21135236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgtcccaggatacattCgtgtggatgacttctcttgt	7	15	10	9	1	1	1	0	1	1	0	4	3	2	3	1	2	1	0	1	2	1	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:21135236C>T	uc009yid.3	+	13	1639	c.1486C>T	c.(1486-1488)Cgt>Tgt	p.R496C	NELL1_uc010rdp.2_Missense_Mutation_p.R228C|NELL1_uc001mqe.3_Missense_Mutation_p.R468C|NELL1_uc001mqf.3_Missense_Mutation_p.R468C|NELL1_uc010rdo.2_Missense_Mutation_p.R411C	NM_006157	NP_006148	Q92832	NELL1_HUMAN	Homo sapiens NEL-like 1 (chicken) (NELL1), transcript variant 1, mRNA.	468	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AGGATACATTCGTGTGGATGA	0.403													T	21135236	C	T	21135236	3	4	186	1	0	0	0	0	1	0	0	0	10409	884	31	1	1452	1	NELL1	11	21135236	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21135236	113871280	45	12910											
OR5M8	219484	broad.mit.edu	37	chr11	56258155	56258155	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagctttttgcctgcccTctgtagagcgaatctttaaa	12	13	7	9	1	2	1	0	0	2	1	2	2	2	1	2	0	4	2	2	0	6	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:56258155T>A	uc001nix.1	-	0	692	c.692A>T	c.(691-693)gAg>gTg	p.E231V	OR8U8_uc001nit.2_Intron	NM_001005282	NP_001005282	Q8NGP6	OR5M8_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 8 (OR5M8), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					TTGCCTGCCCTCTGTAGAGCG	0.413													A	56258155	T	A	56258155	3	1	186	1	0	0	0	0	1	0	0	0	11252	1551	54	5	247	5	OR5M8	11	56258155	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	35122919	56258155	78748361	46	12911											
MS4A4A	51338	broad.mit.edu	37	chr11	60075609	60075609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgccatcacattctcaCatggcagaaacagcatctcc	12	10	5	14	0	4	1	2	0	3	1	6	1	4	1	2	1	3	2	2	1	1	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:60075609C>T	uc001noz.3	+	6	813	c.678C>T	c.(676-678)caC>caT	p.H226H	MS4A4A_uc001npa.3_Silent_p.H207H|MS4A4A_uc001npc.3_Silent_p.H173H	NM_148975	NP_076926	Q96JQ5	M4A4A_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 4 (MS4A4A), transcript variant 1, mRNA.	226						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CACATTCTCACATGGCAGAAA	0.458													T	60075609	C	T	60075609	2	4	186	1	0	0	0	0	0	0	0	1	9938	477	17	2		2	MS4A4A	11	60075609	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	3817454	60075609	74930907	47	12912											
CCDC87	55231	broad.mit.edu	37	chr11	66359836	66359836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagagcactgcacttgggcGaagccagtgctgtgaggcca	9	8	14	10	1	0	2	0	1	0	1	0	3	0	2	2	2	4	3	2	2	2	2	rs17853294		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:66359836G>A	uc001oiq.4	-	0	719	c.651C>T	c.(649-651)ttC>ttT	p.F217F	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	217			F -> L (in dbSNP:rs17853294).							central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCACTTGGGCGAAGCCAGTGC	0.592													A	66359836	G	A	66359836	2	1	186	1	0	0	0	0	0	0	0	1	2890	1049	37	1		1	CCDC87	11	66359836	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	6284227	66359836	68646680	48	12913											
CNTN5	53942	broad.mit.edu	37	chr11	99827702	99827703	+	Frame_Shift_Ins	INS	-	-	TCCTTAGTCC																															cacagtgacgaatgctagagINStccttagtcctccaacgcca																										TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:99827702_99827703insTCCTTAGTCC	uc001pga.3	+	7	1342_1343	c.838_839insTCCTTAGTCC	c.(838-840)gtcfs	p.V280fs	CNTN5_uc009ywv.2_Frame_Shift_Ins_p.V280fs|CNTN5_uc001pfz.3_Frame_Shift_Ins_p.V280fs|CNTN5_uc021qpb.1_Frame_Shift_Ins_p.V280fs|CNTN5_uc021qpc.1_Frame_Shift_Ins_p.V206fs	NM_014361	NP_055176	O94779	CNTN5_HUMAN	Homo sapiens contactin 5 (CNTN5), transcript variant 1, mRNA.	280	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		GAATGCTAGAGTCCTTAGTCCT	0.416													TCCTTAGTCC	99827703	-	TCCTTAGTCC	99827702	7	5	186	1	0	1	1	0	0	0	0	0	3675	1029	36	0	860	0	CNTN5	11	99827702	Frame_Shift_Ins	INS	-	TCGA-27-1834-01A-01W-0643-08	33467866	99827702	35178814	49	12914											
OPCML	4978	broad.mit.edu	37	chr11	132527102	132527102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgctgtactgggttggtgTattgaccaggatgatcacac	9	12	13	7	0	1	2	1	2	0	0	1	4	1	3	1	3	2	4	1	3	2	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr11:132527102T>A	uc010sck.2	-	1	330	c.280A>T	c.(280-282)Aca>Tca	p.T94S	OPCML_uc001qgu.3_Missense_Mutation_p.T87S|OPCML_uc001qgs.3_Missense_Mutation_p.T94S|OPCML_uc001qgt.3_Missense_Mutation_p.T94S|OPCML_uc010scl.2_Missense_Mutation_p.T53S	NM_002545	NP_002536	Q14982	OPCM_HUMAN	Homo sapiens opioid binding protein/cell adhesion molecule-like (OPCML), transcript variant 1, mRNA.	94	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		TGGGTTGGTGTATTGACCAGG	0.532													A	132527102	T	A	132527102	3	1	186	1	0	0	0	0	1	0	0	0	10950	1638	57	5	781	5	OPCML	11	132527102	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08	32699400	132527102	2479414	50	12915											
MVK	4598	broad.mit.edu	37	chr12	110023885	110023885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccaaggggagagaatgAttcacgggaacccctccgga	11	6	12	12	2	1	2	1	1	0	1	3	6	3	5	5	4	1	0	5	4	3	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:110023885A>G	uc001toy.4	+	5	770	c.586A>G	c.(586-588)Att>Gtt	p.I196V	MVK_uc009zvk.3_Missense_Mutation_p.I196V|MVK_uc010sxr.2_Missense_Mutation_p.I144V|MVK_uc001toz.4_Missense_Mutation_p.I2V|MVK_uc021rdo.1_Missense_Mutation_p.I196V|MVK_uc001tpc.4_Non-coding_Transcript	NM_001114185	NP_001107657	Q03426	KIME_HUMAN	Homo sapiens mevalonate kinase (MVK), transcript variant 2, mRNA.	196					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|peroxisome	ATP binding|identical protein binding|mevalonate kinase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	8						GGAGAGAATGATTCACGGGAA	0.453													G	110023885	A	G	110023885	3	3	186	1	0	0	0	0	1	0	0	0	10071	333	12	3	604	3	MVK	12	110023885	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08		110023885	23828010	51	12916											
FZD10	11211	broad.mit.edu	37	chr12	130647861	130647861	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccgattatggagcagttcaActtcaagtggcccgactccc	9	9	9	14	2	2	0	2	0	0	0	3	3	3	1	3	2	2	2	3	2	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr12:130647861A>T	uc001uii.3	+	0	858	c.374A>T	c.(373-375)aAc>aTc	p.N125I	FLJ31485_uc001uig.2_5'Flank|FLJ31485_uc001uih.2_5'Flank	NM_007197	NP_009128	Q9ULW2	FZD10_HUMAN	Homo sapiens frizzled family receptor 10 (FZD10), mRNA.	125	FZ.				brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		GAGCAGTTCAACTTCAAGTGG	0.642													T	130647861	A	T	130647861	3	4	186	1	0	0	0	0	1	0	0	0	6181	43	2	5	376	5	FZD10	12	130647861	Missense_Mutation	SNP	A	TCGA-27-1834-01A-01W-0643-08	20623976	130647861	3204034	52	12917											
OLFM4	10562	broad.mit.edu	37	chr13	53624555	53624555	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgagaatggattgtgggtTatttattcaactgaagccag	12	13	12	4	0	1	2	1	2	0	1	1	5	1	3	1	2	2	1	1	2	5	5			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr13:53624555T>A	uc001vhl.3	+	4	1278	c.1182T>A	c.(1180-1182)gtT>gtA	p.V394V	OLFM4_uc001vhk.2_3'UTR	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	394	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		GATTGTGGGTTATTTATTCAA	0.398													A	53624555	T	A	53624555	2	1	186	1	0	0	0	0	0	0	0	1	10931	1741	61	5		5	OLFM4	13	53624555	Silent	SNP	T	TCGA-27-1834-01A-01W-0643-08		53624555	61545323	53	12918											
OR10G2	26534	broad.mit.edu	37	chr14	22102705	22102705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccacacagccaccaaaCgggatagccttgatggaagg	13	5	12	11	1	0	2	0	2	0	0	0	4	0	4	4	3	4	0	4	3	3	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:22102705C>T	uc010tmc.2	-	0	294	c.294G>A	c.(292-294)ccG>ccA	p.P98P		NM_001005466	NP_001005466	Q8NGC3	O10G2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 2 (OR10G2), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGCCACCAAACGGGATAGCCT	0.493													T	22102705	C	T	22102705	2	4	186	1	0	0	0	0	0	0	0	1	10975	523	19	1		1	OR10G2	14	22102705	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08		22102705	85246835	54	12919											
FOXA1	3169	broad.mit.edu	37	chr14	38060669	38060669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtcaccgaggcgctGcctagaggcaggctggcggg	5	6	19	11	3	1	1	1	0	0	1	1	2	1	1	2	7	1	3	2	7	1	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:38060669G>A	uc001wuf.3	-	1	1632	c.1320C>T	c.(1318-1320)ggC>ggT	p.G440G	FOXA1_uc010tpz.2_Silent_p.G407G	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	440					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CCGAGGCGCTGCCTAGAGGCA	0.607													A	38060669	G	A	38060669	2	1	186	1	0	0	0	0	0	0	0	1	6038	1306	46	2		2	FOXA1	14	38060669	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	15957964	38060669	69288871	55	12920											
ZNF839	55778	broad.mit.edu	37	chr14	102792551	102792551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacttatgccaacctcCtgctcaggggtttgtacaga	10	11	10	10	0	1	2	1	1	0	1	2	2	2	2	3	2	4	3	3	2	4	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr14:102792551C>T	uc010awk.1	+	1	525	c.518C>T	c.(517-519)cCt>cTt	p.P173L	ZNF839_uc001ylo.2_Missense_Mutation_p.P57L|ZNF839_uc001ylp.2_Non-coding_Transcript|ZNF839_uc001ylq.1_Missense_Mutation_p.P57L|ZNF839_uc001ylr.2_Missense_Mutation_p.P57L	NM_018335	NP_060805	A8K0R7	ZN839_HUMAN	Homo sapiens zinc finger protein 839 (ZNF839), mRNA.	57						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TGCCAACCTCCTGCTCAGGGG	0.597													T	102792551	C	T	102792551	3	4	186	1	0	0	0	0	1	0	0	0	18287	681	24	2	524	2	ZNF839	14	102792551	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	64731882	102792551	4556989	56	12921											
ANKS4B	257629	broad.mit.edu	37	chr16	21261689	21261689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatgaatccattctcaatCgtccaggtctaggaagtatt	12	12	7	10	1	2	1	1	1	2	0	6	2	4	2	3	2	0	1	3	2	5	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:21261689C>T	uc010bwp.1	+	1	845	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C	CRYM_uc010bwq.1_Intron	NM_145865	NP_665872	Q8N8V4	ANS4B_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 4B (ANKS4B), mRNA.	268										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CATTCTCAATCGTCCAGGTCT	0.468													T	21261689	C	T	21261689	3	4	186	1	0	0	0	0	1	0	0	0	691	884	31	1	808	1	ANKS4B	16	21261689	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		21261689	69093064	57	12922											
PRKCB	5579	broad.mit.edu	37	chr16	24185839	24185839	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttttttaatttcagAttttacgctgcagaaattgc	9	22	5	5	1	1	2	1	0	0	2	1	2	1	2	0	0	3	2	0	0	3	10			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:24185839A>T	uc002dmd.3	+	12	1529	c.1332_splice	c.e12-1	p.V444_splice	PRKCB_uc002dme.3_Splice_Site_p.V444_splice	NM_212535	NP_997700	P05771	KPCB_HUMAN	Homo sapiens protein kinase C, beta (PRKCB), transcript variant 1, mRNA.	444	Protein kinase.				apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	TTAATTTCAGATTTTACGCTG	0.383													T	24185839	A	T	24185839	2	4	186	1	0	0	0	0	0	0	0	1	12594	347	12	5		5	PRKCB	16	24185839	Silent	SNP	A	TCGA-27-1834-01A-01W-0643-08	2924150	24185839	66168914	58	12923											
CHD9	80205	broad.mit.edu	37	chr16	53337839	53337839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggatttgcttattggtgCtgccaaacacggggtgagcc	8	11	14	8	1	0	1	0	1	0	0	0	2	0	2	2	4	5	2	2	4	3	4			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr16:53337839C>T	uc002ehb.3	+	29	6085	c.5921C>T	c.(5920-5922)gCt>gTt	p.A1974V	CHD9_uc002egy.3_Missense_Mutation_p.A1974V|CHD9_uc002ehc.3_Missense_Mutation_p.A1974V|CHD9_uc002ehf.3_Missense_Mutation_p.A1088V|CHD9_uc002ehg.2_Missense_Mutation_p.A1088V|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1974					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CTTATTGGTGCTGCCAAACAC	0.468													T	53337839	C	T	53337839	3	4	186	1	0	0	0	0	1	0	0	0	3362	797	28	2	6039	2	CHD9	16	53337839	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08	29152000	53337839	37016914	59	12924											
SEZ6	124925	broad.mit.edu	37	chr17	27308674	27308674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgtgattcgaagcatagGggactctgactccggactcc	9	9	12	11	2	1	2	0	2	1	0	4	5	3	4	2	3	2	2	2	3	2	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:27308674G>A	uc002hdp.2	-	1	633	c.439C>T	c.(439-441)Cct>Tct	p.P147S	SEZ6_uc002hdm.2_Non-coding_Transcript|SEZ6_uc010cry.1_Missense_Mutation_p.P147S|SEZ6_uc002hdq.1_Missense_Mutation_p.P22S|SEZ6_uc010crz.1_Missense_Mutation_p.P147S	NM_178860	NP_849191	Q53EL9	SEZ6_HUMAN	Homo sapiens seizure related 6 homolog (mouse) (SEZ6), transcript variant 1, mRNA.	147	Pro-rich.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGAAGCATAGGGGACTCTGAC	0.652													A	27308674	G	A	27308674	3	1	186	1	0	0	0	0	1	0	0	0	14235	1232	43	2	2622	2	SEZ6	17	27308674	Missense_Mutation	SNP	G	TCGA-27-1834-01A-01W-0643-08		27308674	53886536	60	12925											
PPM1D	8493	broad.mit.edu	37	chr17	58678099	58678099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtgcgacgggcacggCgggcgggaggcggcacagtt	5	4	21	11	7	0	0	0	0	0	0	0	2	0	1	1	6	1	3	1	6	0	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:58678099C>T	uc002iyt.2	+	0	556	c.324C>T	c.(322-324)ggC>ggT	p.G108G	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	108	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACGGGCACGGCGGGCGGGAGG	0.692													T	58678099	C	T	58678099	2	4	186	1	0	0	0	0	0	0	0	1	12419	755	27	1		1	PPM1D	17	58678099	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	31369425	58678099	22517111	61	12926											
SLC39A11	201266	broad.mit.edu	37	chr17	70644980	70644980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtcgtccatgaccacGtagaccatggcaccggcagc	10	7	11	13	3	0	3	0	2	0	1	2	3	1	3	4	2	1	3	4	2	1	1	rs146713017		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:70644980G>A	uc002jjb.3	-	8	1027	c.912C>T	c.(910-912)taC>taT	p.Y304Y	SLC39A11_uc002jja.3_Silent_p.Y297Y	NM_001159770	NP_001153242	Q8N1S5	S39AB_HUMAN	Homo sapiens solute carrier family 39 (metal ion transporter), member 11 (SLC39A11), transcript variant 1, mRNA.	304					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			endometrium(1)|large_intestine(4)|liver(2)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CCATGACCACGTAGACCATGG	0.642													A	70644980	G	A	70644980	2	1	186	1	0	0	0	0	0	0	0	1	14708	1140	40	1		1	SLC39A11	17	70644980	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	11966881	70644980	10550230	62	12927											
TBC1D16	125058	broad.mit.edu	37	chr17	77915925	77915925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgcaggagcatctggtcCgtggccagctgctgctcgat	7	9	14	11	2	1	0	0	0	1	0	3	2	2	1	2	3	5	5	2	3	1	0	rs149251119	byFrequency	TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr17:77915925C>T	uc002jxj.3	-	10	2105	c.1989G>A	c.(1987-1989)acG>acA	p.T663T	TBC1D16_uc002jxh.3_Silent_p.T301T|TBC1D16_uc002jxi.3_Silent_p.T288T	NM_019020	NP_061893	Q8TBP0	TBC16_HUMAN	Homo sapiens TBC1 domain family, member 16 (TBC1D16), mRNA.	663						intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			GCATCTGGTCCGTGGCCAGCT	0.622													T	77915925	C	T	77915925	2	4	186	1	0	0	0	0	0	0	0	1	15702	639	23	1		1	TBC1D16	17	77915925	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08	7270945	77915925	3279285	63	12928											
CYP2A13	1553	broad.mit.edu	37	chr19	41597775	41597775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggatcccaattccccaCgggacttcatcgactccttt	7	11	7	16	3	1	0	1	0	0	0	5	3	4	2	4	2	0	1	4	2	1	3	rs143140637		TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr19:41597775C>T	uc002opt.3	+	4	802	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	265					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	CAATTCCCCACGGGACTTCAT	0.582													T	41597775	C	T	41597775	3	4	186	1	0	0	0	0	1	0	0	0	4194	527	19	1	811	1	CYP2A13	19	41597775	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		41597775	17531208	64	12929											
HAO1	54363	broad.mit.edu	37	chr20	7915230	7915230	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtcctaaaacagaagTcgacagatctgtttcagcaa	13	10	7	11	1	3	2	1	0	2	2	5	3	4	2	2	0	2	2	2	0	4	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:7915230T>G	uc002wmw.1	-	1	214	c.190A>C	c.(190-192)Act>Cct	p.T64P	HAO1_uc010gbu.3_Missense_Mutation_p.T64P	NM_017545	NP_060015	Q9UJM8	HAOX1_HUMAN	Homo sapiens hydroxyacid oxidase (glycolate oxidase) 1 (HAO1), mRNA.	64	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AAAACAGAAGTCGACAGATCT	0.458													G	7915230	T	G	7915230	3	3	186	1	0	0	0	0	1	0	0	0	7006	1667	58	5	950	5	HAO1	20	7915230	Missense_Mutation	SNP	T	TCGA-27-1834-01A-01W-0643-08		7915230	55110290	65	12930											
CSTF1	1477	broad.mit.edu	37	chr20	54978729	54978729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaccccgggttcatgacGtgcagcgatgacttcagagc	10	7	11	13	3	2	3	2	2	0	1	2	4	2	3	3	1	4	2	3	1	1	2			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr20:54978729G>A	uc002xxl.1	+	5	1442	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	CSTF1_uc002xxm.1_Silent_p.T414T|CSTF1_uc002xxn.1_Silent_p.T414T	NM_001033521	NP_001315	Q05048	CSTF1_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa (CSTF1), transcript variant 1, mRNA.	414					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			GGTTCATGACGTGCAGCGATG	0.587													A	54978729	G	A	54978729	2	1	186	1	0	0	0	0	0	0	0	1	4016	1132	40	1		1	CSTF1	20	54978729	Silent	SNP	G	TCGA-27-1834-01A-01W-0643-08	47063499	54978729	8046791	66	12931											
COL6A2	1292	broad.mit.edu	37	chr21	47545941	47545941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggacgggcgccacgaccctCgggacgatgacctcaacttg	8	5	13	15	6	1	1	1	1	0	0	2	5	1	3	3	3	1	0	3	3	1	1			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chr21:47545941C>T	uc002zia.1	+	25	2294	c.2212C>T	c.(2212-2214)Cgg>Tgg	p.R738W	COL6A2_uc002zhz.1_Missense_Mutation_p.R738W|COL6A2_uc002zhy.1_Missense_Mutation_p.R738W|COL6A2_uc010gqe.2_5'Flank	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	738	Nonhelical region.|VWFA 2.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.R738W(4)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCACGACCCTCGGGACGATGA	0.622													T	47545941	C	T	47545941	3	4	186	1	0	0	0	0	1	0	0	0	3731	875	31	1	2310	1	COL6A2	21	47545941	Missense_Mutation	SNP	C	TCGA-27-1834-01A-01W-0643-08		47545941	583954	67	12932											
CSF2RA	1438	broad.mit.edu	37	chrX	1407665	1407665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaggaagggagggtacCgctgctcagaatttctcctg	8	10	12	11	1	2	1	1	0	1	1	4	3	3	3	3	3	2	3	3	3	3	3			TCGA-27-1834-01A-01W-0643-08	TCGA-27-1834-10A-01W-0644-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6c0824e-3d2a-498a-af77-44ea96ba5ce4	732875cd-e439-43d9-8720-e45f5cbbefae	g.chrX:1407665C>T	uc010nct.2	+	6	679	c.357C>T	c.(355-357)acC>acT	p.T119T	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Silent_p.T119T|CSF2RA_uc004cpq.2_Silent_p.T119T|CSF2RA_uc004cpn.2_Silent_p.T119T|CSF2RA_uc004cpo.2_Silent_p.T119T|CSF2RA_uc010ncu.2_Non-coding_Transcript|CSF2RA_uc011mhc.1_5'UTR|CSF2RA_uc004cpp.2_Silent_p.T119T|CSF2RA_uc010ncv.2_Silent_p.T119T|CSF2RA_uc004cpr.2_Silent_p.T119T	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	119						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GGGAGGGTACCGCTGCTCAGA	0.517													T	1407665	C	T	1407665	2	4	186	1	0	0	0	0	0	0	0	1	3967	639	23	1		1	CSF2RA	23	1407665	Silent	SNP	C	TCGA-27-1834-01A-01W-0643-08		1407665	153862895	68	12933											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131552	150131552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagctgctgctggagaCggaacggctgctgggagagg	9	5	19	8	2	0	3	0	0	0	3	0	6	0	4	0	5	6	6	0	5	1	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:150131552C>T	uc001ett.3	+	5	1342	c.1064C>T	c.(1063-1065)aCg>aTg	p.T355M	PLEKHO1_uc001ets.3_Missense_Mutation_p.T172M|PLEKHO1_uc001etu.3_Missense_Mutation_p.T183M|PLEKHO1_uc021oyc.1_Missense_Mutation_p.T172M	NM_016274	NP_057358	Q53GL0	PKHO1_HUMAN	Homo sapiens pleckstrin homology domain containing, family O member 1 (PLEKHO1), mRNA.	355	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTGCTGGAGACGGAACGGCTG	0.607													T	150131552	C	T	150131552	3	4	187	1	0	0	0	0	1	0	0	0	12161	536	19	1	1086	1	PLEKHO1	1	150131552	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		150131552	99119069	1	12934											
NUP210L	91181	broad.mit.edu	37	chr1	154110601	154110601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcactctcccttgaacCatttttgcaacttggtattt	7	17	5	12	0	2	1	1	1	1	0	3	1	2	1	3	1	3	2	3	1	3	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:154110601C>A	uc001fdw.3	-	5	903	c.831G>T	c.(829-831)atG>atT	p.M277I	NUP210L_uc009woq.3_5'Flank|NUP210L_uc010peh.2_Missense_Mutation_p.M277I	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	277						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCCCTTGAACCATTTTTGCAA	0.343													A	154110601	C	A	154110601	3	1	187	1	0	0	0	0	1	0	0	0	10837	594	21	4	4975	4	NUP210L	1	154110601	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	3979049	154110601	95140020	2	12935											
SPTA1	6708	broad.mit.edu	37	chr1	158626393	158626393	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcagagctttcatactGtctccaaatgaattgagatc	11	13	7	10	1	2	3	1	2	1	2	5	4	3	3	2	0	2	2	2	0	3	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158626393G>C	uc001fst.1	-	19	3058	c.2859C>G	c.(2857-2859)gaC>gaG	p.D953E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	953					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTTCATACTGTCTCCAAATG	0.413													C	158626393	G	C	158626393	3	2	187	1	0	0	0	0	1	0	0	0	15212	1368	48	4	4532	4	SPTA1	1	158626393	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	4515792	158626393	90624228	3	12936											
SPTA1	6708	broad.mit.edu	37	chr1	158632602	158632602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctaagagcttcttctttCgggtggccagtggctctttc	4	15	12	10	1	4	1	0	0	4	1	6	1	4	1	1	4	1	2	1	4	1	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:158632602C>T	uc001fst.1	-	16	2553	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	785					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTTCTTCTTTCGGGTGGCCAG	0.478													T	158632602	C	T	158632602	3	4	187	1	0	0	0	0	1	0	0	0	15212	884	31	1	5049	1	SPTA1	1	158632602	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	6209	158632602	90618019	4	12937											
LAMB3	3914	broad.mit.edu	37	chr1	209804029	209804029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagaagggtgcacagcGctcacaatttgggccggcag	9	8	15	9	2	1	1	1	0	0	1	1	1	1	1	1	3	2	5	1	3	3	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:209804029G>A	uc001hhg.3	-	7	1264	c.874C>T	c.(874-876)Cgc>Tgc	p.R292C	LAMB3_uc009xco.3_Missense_Mutation_p.R292C|LAMB3_uc001hhh.3_Missense_Mutation_p.R292C|LAMB3_uc010psl.1_Non-coding_Transcript|LAMB3_uc009xcp.1_Missense_Mutation_p.R228C	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	292	Laminin EGF-like 1.		R -> L (in dbSNP:rs12091253).		cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGTGCACAGCGCTCACAATTT	0.597													A	209804029	G	A	209804029	3	1	187	1	0	0	0	0	1	0	0	0	8671	1087	38	1	2704	1	LAMB3	1	209804029	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	51171427	209804029	39446592	5	12938											
SIPA1L2	57568	broad.mit.edu	37	chr1	232615447	232615447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgtagtctttgtatgtggTatagagagagtgcgtgcccg	7	14	14	6	3	1	2	0	0	1	2	2	3	1	2	1	1	2	3	1	1	4	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:232615447T>C	uc001hvg.3	-	4	2169	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	671	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTGTATGTGGTATAGAGAGAG	0.448													C	232615447	T	C	232615447	3	2	187	1	0	0	0	0	1	0	0	0	14424	1638	57	3	3225	3	SIPA1L2	1	232615447	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	22811418	232615447	16635174	6	12939											
KIAA1804	84451	broad.mit.edu	37	chr1	233515030	233515030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggaagagaagaagaaaCgagagggaatcttccagcgg	17	3	14	7	2	1	4	0	0	1	4	2	8	2	6	2	3	2	0	2	3	6	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:233515030C>T	uc001hvt.4	+	8	2539	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	KIAA1804_uc001hvu.4_Nonsense_Mutation_p.R206*	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	760					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				GAAGAAGAAACGAGAGGGAAT	0.602													T	233515030	C	T	233515030	4	4	187	1	0	0	0	0	0	1	0	0	8317	528	19	1	2312	1	KIAA1804	1	233515030	Nonsense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	899583	233515030	15735591	7	12940											
OR2M4	26245	broad.mit.edu	37	chr1	248402638	248402638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtacaccatcctcatGaatccgaaactctgtgtctt	10	13	5	13	1	4	1	2	1	2	0	6	2	6	1	3	0	2	1	3	0	3	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr1:248402638G>T	uc010pzh.2	+	0	408	c.408G>T	c.(406-408)atG>atT	p.M136I		NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 4 (OR2M4), mRNA.	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCATCCTCATGAATCCGAAAC	0.473													T	248402638	G	T	248402638	3	4	187	1	0	0	0	0	1	0	0	0	11088	1290	45	4	410	4	OR2M4	1	248402638	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	14887608	248402638	847983	8	12941											
IFT172	26160	broad.mit.edu	37	chr2	27670769	27670769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaccatgtcagtgaagatCcttttgtagatattgaagtt	11	15	8	7	0	2	4	2	2	0	2	3	4	3	4	2	0	0	2	2	0	4	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:27670769C>A	uc002rku.3	-	40	4500	c.4449G>T	c.(4447-4449)agG>agT	p.R1483S	IFT172_uc010ezb.3_Non-coding_Transcript	NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	1483					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGTGAAGATCCTTTTGTAGA	0.502													A	27670769	C	A	27670769	3	1	187	1	0	0	0	0	1	0	0	0	7615	854	30	4	832	4	IFT172	2	27670769	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		27670769	215528604	9	12942											
CAPN13	92291	broad.mit.edu	37	chr2	30959413	30959413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgcgcaaactcctcttGgtctagccgcccattcactt	7	11	7	16	3	3	0	1	0	2	0	5	0	4	0	3	1	2	1	3	1	2	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:30959413G>T	uc021vfn.1	-	16	1710	c.1678C>A	c.(1678-1680)Caa>Aaa	p.Q560K	CAPN13_uc002rnm.3_Non-coding_Transcript|CAPN13_uc021vfm.1_Missense_Mutation_p.Q556K	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	560	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AACTCCTCTTGGTCTAGCCGC	0.537													T	30959413	G	T	30959413	3	4	187	1	0	0	0	0	1	0	0	0	2652	1357	47	4	351	4	CAPN13	2	30959413	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	3288644	30959413	212239960	10	12943											
FAM82A1	151393	broad.mit.edu	37	chr2	38202445	38202445	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacacaagaaaagaaacatTatgctaatattggtaagcat	20	9	6	6	0	0	2	0	0	0	2	0	2	0	2	0	1	3	3	0	1	8	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:38202445T>C	uc002rqn.2	+	3	1378	c.1252T>C	c.(1252-1254)Tat>Cat	p.Y418H	FAM82A1_uc002rqk.1_Missense_Mutation_p.Y95H|FAM82A1_uc002rql.3_Missense_Mutation_p.Y240H|FAM82A1_uc021vga.1_Missense_Mutation_p.Y240H|FAM82A1_uc002rqm.3_Missense_Mutation_p.Y95H	NM_144713	NP_653314	Q96LZ7	RMD2_HUMAN	Homo sapiens family with sequence similarity 82, member A1 (FAM82A1), transcript variant 1, mRNA.	240						cytoplasm|integral to membrane|microtubule|spindle pole	binding			endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	13						AAAGAAACATTATGCTAATAT	0.323													C	38202445	T	C	38202445	3	2	187	1	0	0	0	0	1	0	0	0	5680	1754	61	3	1722	3	FAM82A1	2	38202445	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	7243032	38202445	204996928	11	12944											
SULT1C4	27233	broad.mit.edu	37	chr2	108999906	108999906	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatgaacatgtgaaaggAtggtgggaagccaaagacaa	16	6	14	5	0	0	3	0	2	0	1	0	5	0	5	1	4	2	1	1	4	5	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:108999906A>T	uc002tea.1	+	4	928	c.555A>T	c.(553-555)ggA>ggT	p.G185G	SULT1C4_uc010ywr.1_Non-coding_Transcript|SULT1C4_uc002teb.1_Silent_p.G110G	NM_006588	NP_006579	O75897	ST1C4_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1C, member 4 (SULT1C4), mRNA.	185					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol	sulfotransferase activity			endometrium(1)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	12						ATGTGAAAGGATGGTGGGAAG	0.478													T	108999906	A	T	108999906	2	4	187	1	0	0	0	0	0	0	0	1	15475	320	12	5		5	SULT1C4	2	108999906	Silent	SNP	A	TCGA-27-1835-01A-01D-1494-08	70797461	108999906	134199467	12	12945											
RPRM	56475	broad.mit.edu	37	chr2	154334770	154334770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagtagggccccacgaccaCcgcctccacctccttagacg	8	6	8	19	3	1	1	1	0	0	1	3	2	3	1	8	1	0	1	8	1	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:154334770C>T	uc002tyq.1	-	0	553	c.310G>A	c.(310-312)Gtg>Atg	p.V104M		NM_019845	NP_062819	Q9NS64	RPRM_HUMAN	Homo sapiens reprimo, TP53 dependent G2 arrest mediator candidate (RPRM), mRNA.	104					cell cycle arrest	cytoplasm|integral to membrane	protein binding			large_intestine(2)|lung(1)|prostate(1)	4						CCCACGACCACCGCCTCCACC	0.637													T	154334770	C	T	154334770	3	4	187	1	0	0	0	0	1	0	0	0	13709	507	18	2	23	2	RPRM	2	154334770	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	45334864	154334770	88864603	13	12946											
STAT4	6775	broad.mit.edu	37	chr2	192011451	192011451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagttttgaagaagaatcGttgccatggtttcattgtta	12	15	9	5	1	1	3	1	1	0	2	2	3	1	3	1	1	1	4	1	1	5	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:192011451G>A	uc002usm.2	-	2	476	c.161C>T	c.(160-162)aCg>aTg	p.T54M	STAT4_uc010zgm.1_Non-coding_Transcript|STAT4_uc010zgn.1_Non-coding_Transcript|STAT4_uc010zgo.1_Non-coding_Transcript|STAT4_uc002usn.2_Missense_Mutation_p.T54M|STAT4_uc002uso.2_Missense_Mutation_p.T54M|STAT4_uc002usp.4_Missense_Mutation_p.T54M|STAT4_uc010zgl.2_Missense_Mutation_p.T54M	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	54					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AAGAAGAATCGTTGCCATGGT	0.323													A	192011451	G	A	192011451	3	1	187	1	0	0	0	0	1	0	0	0	15363	1145	40	1	2173	1	STAT4	2	192011451	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	37676681	192011451	51187922	14	12947											
CD28	940	broad.mit.edu	37	chr2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacatgaacatgactcccCgccgccccgggcccacccgc	8	4	8	21	4	0	2	0	2	0	0	1	2	1	2	7	1	2	0	7	1	2	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr2:204599561C>T	uc002vah.4	+	3	811	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_uc010zio.2_Missense_Mutation_p.R100C|CD28_uc010ftx.3_Missense_Mutation_p.R78C|CD28_uc002vaj.4_Non-coding_Transcript	NM_006139	NP_006130	P10747	CD28_HUMAN	Homo sapiens CD28 molecule (CD28), transcript variant 1, mRNA.	197					cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597													T	204599561	C	T	204599561	3	4	187	1	0	0	0	0	1	0	0	0	3023	652	23	1	603	1	CD28	2	204599561	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	12588110	204599561	38599812	15	12948											
SNRK	54861	broad.mit.edu	37	chr3	43381834	43381834	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggcttctttagaagagAttgaaaatcatccttggctt	12	13	10	6	0	2	3	1	1	1	2	3	5	3	3	1	2	0	2	1	2	5	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr3:43381834A>C	uc003cms.4	+	4	1119	c.787A>C	c.(787-789)Att>Ctt	p.I263L	SNRK_uc003cmt.4_Missense_Mutation_p.I263L|SNRK_uc010hik.3_Missense_Mutation_p.I263L|SNRK_uc011azr.2_Missense_Mutation_p.I57L	NM_017719	NP_060189	Q9NRH2	SNRK_HUMAN	Homo sapiens SNF related kinase (SNRK), transcript variant 1, mRNA.	263	Protein kinase.				myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		TTTAGAAGAGATTGAAAATCA	0.443													C	43381834	A	C	43381834	3	2	187	1	0	0	0	0	1	0	0	0	14945	333	12	5	797	5	SNRK	3	43381834	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08		43381834	154640596	16	12949											
LETM1	3954	broad.mit.edu	37	chr4	1818642	1818642	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgatctcctgcaagtcCtaataaaattattttggttg	10	18	6	7	0	2	1	0	1	2	0	4	1	3	1	2	1	1	2	2	1	5	8			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1818642C>T	uc003gdv.3	-	12	2041	c.1744_splice	c.e12-1	p.D582_splice		NM_012318	NP_036450	O95202	LETM1_HUMAN	Homo sapiens leucine zipper-EF-hand containing transmembrane protein 1 (LETM1), nuclear gene encoding mitochondrial protein, mRNA.	582					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			CCTGCAAGTCCTAATAAAATT	0.408													T	1818642	C	T	1818642	5	4	187	1	0	0	0	0	0	0	1	0	8793	695	24	2	488	2	LETM1	4	1818642	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08		1818642	189335634	17	12950											
WHSC1	7468	broad.mit.edu	37	chr4	1978378	1978378	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggcctaccacctgtcCtgcctgggccttggcaagcg	7	7	11	16	1	0	0	0	0	0	0	1	0	1	0	7	3	3	1	7	3	3	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:1978378C>A	uc003gdz.4	+	20	3974	c.3798C>A	c.(3796-3798)tcC>tcA	p.S1266S	WHSC1_uc003geb.4_Silent_p.S1266S|WHSC1_uc003gec.4_Silent_p.S1266S|WHSC1_uc003ged.4_Silent_p.S1266S|WHSC1_uc003gee.4_Non-coding_Transcript|WHSC1_uc003gef.4_Non-coding_Transcript|WHSC1_uc003gei.4_Silent_p.S485S|WHSC1_uc011bvh.2_Silent_p.S327S|WHSC1_uc010icf.3_Silent_p.S614S	NM_001042424	NP_579890	O96028	NSD2_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1 (WHSC1), transcript variant 10, mRNA.	1266					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		ACCACCTGTCCTGCCTGGGCC	0.657			T	IGH@	MM								A	1978378	C	A	1978378	2	1	187	1	0	0	0	0	0	0	0	1	17464	668	24	4		4	WHSC1	4	1978378	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	159736	1978378	189175898	18	12951											
FAM193A	8603	broad.mit.edu	37	chr4	2692666	2692667	+	Frame_Shift_Del	DEL	CA	CA	-																															cagtccagcaacagccagttCagagtgtcatccaagagacc																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:2692666_2692667delCA	uc010ick.3	+	13	2500_2501	c.2499_2500delCA	c.(2497-2502)ttcagafs	p.F833fs	FAM193A_uc003gfd.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvm.2_Frame_Shift_Del_p.F655fs|FAM193A_uc011bvn.2_Frame_Shift_Del_p.F633fs|FAM193A_uc010icl.3_Frame_Shift_Del_p.F633fs|FAM193A_uc011bvo.2_Non-coding_Transcript|FAM193A_uc010icm.3_Non-coding_Transcript|FAM193A_uc003gfe.2_Frame_Shift_Del_p.F487fs	NM_003704	NP_003695	P78312	F193A_HUMAN	Homo sapiens family with sequence similarity 193, member A (FAM193A), mRNA.	633										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						ACAGCCAGTTCAGAGTGTCATC	0.53													-	2692667	CA	-	2692666	7	5	187	1	0	1	0	1	0	0	0	0	5571	825	29	0	1941	0	FAM193A	4	2692666	Frame_Shift_Del	DEL	CA	TCGA-27-1835-01A-01D-1494-08	714288	2692666	188461610	19	12952											
USP46	64854	broad.mit.edu	37	chr4	53468067	53468067	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagtcatacatgcggtcCaggttcactgcatcactgga	11	9	9	12	1	3	0	3	0	0	0	4	1	4	1	2	3	3	2	2	3	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:53468067C>G	uc003gzn.3	-	6	1061	c.876G>C	c.(874-876)ctG>ctC	p.L292L	USP46_uc003gzm.4_Silent_p.L285L|USP46_uc011bzr.2_Silent_p.L269L|USP46_uc011bzs.2_Silent_p.L176L	NM_022832	NP_073743	P62068	UBP46_HUMAN	Homo sapiens ubiquitin specific peptidase 46 (USP46), transcript variant 1, mRNA.	292					behavior|protein deubiquitination|regulation of synaptic transmission, GABAergic|ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)	12			LUSC - Lung squamous cell carcinoma(32;0.0295)			ACATGCGGTCCAGGTTCACTG	0.537													G	53468067	C	G	53468067	2	3	187	1	0	0	0	0	0	0	0	1	17179	581	21	4		4	USP46	4	53468067	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	50775401	53468067	137686209	20	12953											
C4orf40	401137	broad.mit.edu	37	chr4	71024299	71024299	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctcctaggggtttcccGtttgtccctccttcaaggtt	3	15	8	15	1	1	0	1	0	0	0	6	0	6	0	5	3	0	3	5	3	2	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:71024299G>A	uc003hfa.4	+	3	403	c.330G>A	c.(328-330)ccG>ccA	p.P110P	C4orf40_uc003hfb.4_Silent_p.P110P	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	110						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGGGTTTCCCGTTTGTCCCTC	0.532													A	71024299	G	A	71024299	2	1	187	1	0	0	0	0	0	0	0	1	2291	1132	40	1		1	C4orf40	4	71024299	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	17556232	71024299	120129977	21	12954											
PRDM5	11107	broad.mit.edu	37	chr4	121720881	121720884	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															atttcttcatacattcttgaCaatcaaatatctcatgaatc																								rs34666716	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr4:121720881_121720884delCAAT	uc003idn.3	-	8	1212_1215	c.962_965delATTG	c.(961-966)gattgtfs	p.D321fs	PRDM5_uc003ido.3_Frame_Shift_Del_p.D290fs|PRDM5_uc010ine.3_Frame_Shift_Del_p.D290fs	NM_018699	NP_061169	Q9NQX1	PRDM5_HUMAN	Homo sapiens PR domain containing 5 (PRDM5), mRNA.	321					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	p.D321Y(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ACATTCTTGACAATCAAATATCTC	0.309													-	121720884	CAAT	-	121720881	7	5	187	1	0	1	0	1	0	0	0	0	12546	478	17	0	959	0	PRDM5	4	121720881	Frame_Shift_Del	DEL	CAAT	TCGA-27-1835-01A-01D-1494-08	50696582	121720881	69433395	22	12955											
GPR98	84059	broad.mit.edu	37	chr5	89981612	89981612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagttccaaattctccacGtcttgggcctaaggtagaaa	11	12	8	10	1	3	1	1	0	2	1	5	1	4	1	3	2	0	2	3	2	4	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:89981612G>A	uc003kju.3	+	28	6386	c.6290G>A	c.(6289-6291)cGt>cAt	p.R2097H	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2097			R -> C (in dbSNP:rs16868974).		cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AATTCTCCACGTCTTGGGCCT	0.423													A	89981612	G	A	89981612	3	1	187	1	0	0	0	0	1	0	0	0	6776	1145	40	1	6404	1	GPR98	5	89981612	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		89981612	90933648	23	12956											
ADAMTS19	171019	broad.mit.edu	37	chr5	128957961	128957961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgatggttccctccaagCtgccagggatgacatacact	9	10	10	12	0	0	2	0	2	0	0	2	3	2	3	3	2	3	2	3	2	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:128957961C>G	uc003kvb.1	+	9	1672	c.1672C>G	c.(1672-1674)Ctg>Gtg	p.L558V	ADAMTS19_uc010jdh.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	558	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TCCCTCCAAGCTGCCAGGGAT	0.468													G	128957961	C	G	128957961	3	3	187	1	0	0	0	0	1	0	0	0	264	796	28	4	1710	4	ADAMTS19	5	128957961	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	38976349	128957961	51957299	24	12957											
GABRA6	2559	broad.mit.edu	37	chr5	161116169	161116169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatggaaccattttatacaCcatgaggtgaggtttctcca	12	12	9	8	0	1	2	0	2	1	0	2	4	1	3	3	3	2	1	3	3	4	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:161116169C>A	uc003lyu.2	+	3	778	c.440C>A	c.(439-441)aCc>aAc	p.T147N	GABRA6_uc003lyv.2_5'Flank	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	147					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATTTTATACACCATGAGGTGA	0.373										TCGA Ovarian(5;0.080)			A	161116169	C	A	161116169	3	1	187	1	0	0	0	0	1	0	0	0	6217	507	18	4	454	4	GABRA6	5	161116169	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	32158208	161116169	19799091	25	12958											
DDX41	51428	broad.mit.edu	37	chr5	176943782	176943782	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgtagtcctcgtcgtcctCatcttccgcctcggagcggc	4	10	10	17	6	2	0	1	0	1	0	8	1	5	1	4	2	1	1	4	2	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr5:176943782C>G	uc003mho.3	-	1	103	c.82G>C	c.(82-84)Gag>Cag	p.E28Q	DDX41_uc003mhn.3_5'UTR|DDX41_uc003mhp.3_5'UTR|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	28				PAGGSRSEAEDEDDEDYVPYVPLRQRR -> LPEEAAPRRK MRTTRTTCPMCRYAAP (in Ref. 1; AAF04150).	apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			TCGTCGTCCTCATCTTCCGCC	0.706													G	176943782	C	G	176943782	3	3	187	1	0	0	0	0	1	0	0	0	4395	835	29	4	1850	4	DDX41	5	176943782	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	15827613	176943782	3971478	26	12959											
GPR116	221395	broad.mit.edu	37	chr6	46826114	46826114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatcagtgctgggatggCgaaagccagcagggccttgg	10	7	16	8	1	1	1	1	1	0	0	1	3	1	2	2	4	3	2	2	4	2	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:46826114C>T	uc003oyo.3	-	16	3815	c.3526G>A	c.(3526-3528)Gcc>Acc	p.A1176T	GPR116_uc011dwj.1_Missense_Mutation_p.A731T|GPR116_uc011dwk.1_Missense_Mutation_p.A605T|GPR116_uc003oyp.3_Missense_Mutation_p.A1034T|GPR116_uc003oyq.3_Missense_Mutation_p.A1176T|GPR116_uc010jzi.1_Missense_Mutation_p.A848T	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	1176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCTGGGATGGCGAAAGCCAGC	0.547													T	46826114	C	T	46826114	3	4	187	1	0	0	0	0	1	0	0	0	6687	768	27	1	534	1	GPR116	6	46826114	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		46826114	124288953	27	12960											
NT5E	4907	broad.mit.edu	37	chr6	86197137	86197137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attagggaaaacaattgtctAtctggatggctcctctcaat	12	13	8	8	0	3	0	1	0	3	0	5	2	4	2	1	3	1	1	1	3	6	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:86197137A>G	uc003pko.4	+	4	1590	c.1034A>G	c.(1033-1035)tAt>tGt	p.Y345C	NT5E_uc010kbr.3_Missense_Mutation_p.Y345C	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	345					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	ACAATTGTCTATCTGGATGGC	0.393													G	86197137	A	G	86197137	3	3	187	1	0	0	0	0	1	0	0	0	10769	449	16	3	1052	3	NT5E	6	86197137	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	39371023	86197137	84917930	28	12961											
MDN1	23195	broad.mit.edu	37	chr6	90362720	90362720	+	Frame_Shift_Del	DEL	C	C	-																															agttttactacctggaagatCgtgtccatgaggaattgatg																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:90362720delC	uc003pnn.1	-	93	15932	c.15816delG	c.(15814-15816)acgfs	p.T5272fs		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5272					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	p.T5272A(1)		NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCTGGAAGATCGTGTCCATGA	0.338													-	90362720	C	-	90362720	7	5	187	1	0	1	0	1	0	0	0	0	9490	871	31	0	1010	0	MDN1	6	90362720	Frame_Shift_Del	DEL	C	TCGA-27-1835-01A-01D-1494-08	4165583	90362720	80752347	29	12962											
MAP3K7	6885	broad.mit.edu	37	chr6	91281453	91281453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctctcagattcactttctAtttgtttaatagcaacatct	10	18	3	10	0	4	1	2	0	3	1	6	1	5	1	1	0	2	2	1	0	4	7			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:91281453A>G	uc003pnz.1	-	1	499	c.194T>C	c.(193-195)aTa>aCa	p.I65T	MAP3K7_uc003pob.1_Missense_Mutation_p.I65T|MAP3K7_uc003poa.1_Missense_Mutation_p.I65T|MAP3K7_uc003poc.1_Missense_Mutation_p.I65T	NM_145331	NP_663304	O43318	M3K7_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 7 (MAP3K7), transcript variant B, mRNA.	65	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		TTCACTTTCTATTTGTTTAAT	0.338													G	91281453	A	G	91281453	3	3	187	1	0	0	0	0	1	0	0	0	9330	449	16	3	1690	3	MAP3K7	6	91281453	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	918733	91281453	79833614	30	12963											
SLC16A10	117247	broad.mit.edu	37	chr6	111498841	111498841	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaataccacttgcacttttTggatactttgtgccttatgt	8	17	8	8	0	0	0	0	0	0	0	0	2	0	2	2	2	4	1	2	2	4	7			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:111498841T>C	uc003pus.3	+	2	1090	c.915T>C	c.(913-915)ttT>ttC	p.F305F	SLC16A10_uc003pur.4_Silent_p.F305F|SLC16A10_uc003put.3_5'UTR	NM_018593	NP_061063	Q8TF71	MOT10_HUMAN	Homo sapiens solute carrier family 16, member 10 (aromatic amino acid transporter) (SLC16A10), mRNA.	305					aromatic amino acid transport|cellular nitrogen compound metabolic process|ion transport	basolateral plasma membrane|integral to membrane	amino acid transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)	12		all_cancers(87;0.00172)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0313)|Colorectal(196;0.0466)		OV - Ovarian serous cystadenocarcinoma(136;0.0703)|Epithelial(106;0.12)|all cancers(137;0.132)		TTGCACTTTTTGGATACTTTG	0.363													C	111498841	T	C	111498841	2	2	187	1	0	0	0	0	0	0	0	1	14497	1809	63	3		3	SLC16A10	6	111498841	Silent	SNP	T	TCGA-27-1835-01A-01D-1494-08	20217388	111498841	59616226	31	12964											
RSPH4A	345895	broad.mit.edu	37	chr6	116938051	116938051	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctcctgtctctccgcggGagccctcttcctctccttct	1	14	7	19	2	4	0	0	0	4	0	9	1	7	1	5	1	2	1	5	1	0	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:116938051G>T	uc003pxe.2	+	0	410	c.265G>T	c.(265-267)Gag>Tag	p.E89*	RSPH4A_uc010kee.2_Nonsense_Mutation_p.E89*	NM_001010892	NP_001010892	Q5TD94	RSH4A_HUMAN	Homo sapiens radial spoke head 4 homolog A (Chlamydomonas) (RSPH4A), transcript variant 1, mRNA.	89					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTCCGCGGGAGCCCTCTTC	0.647									Kartagener syndrome				T	116938051	G	T	116938051	4	4	187	1	0	0	0	0	0	1	0	0	13797	1175	41	4	267	4	RSPH4A	6	116938051	Nonsense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	5439210	116938051	54177016	32	12965											
RFX6	222546	broad.mit.edu	37	chr6	117244279	117244279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacttttagaccagcaaaCaaaatggaaggtcattaaag	17	11	7	6	0	1	1	1	0	0	1	1	2	1	2	1	2	3	1	1	2	8	5	rs144863251		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:117244279C>A	uc003pxm.3	+	13	1510	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	483					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.Q483K(2)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCAAACAAAATGGAAG	0.363													A	117244279	C	A	117244279	3	1	187	1	0	0	0	0	1	0	0	0	13355	479	17	4	1501	4	RFX6	6	117244279	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	306228	117244279	53870788	33	12966											
CNKSR3	154043	broad.mit.edu	37	chr6	154743668	154743668	+	Frame_Shift_Del	DEL	T	T	-																															gaggtggcttccaccgtaggTttttcaggggagcaggagta																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:154743668delT	uc021zhc.1	-	8	1422	c.917delA	c.(916-918)aacfs	p.N306fs	CNKSR3_uc003qpy.3_Frame_Shift_Del_p.N306fs	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	306					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		CCACCGTAGGTTTTTCAGGGG	0.448													-	154743668	T	-	154743668	7	5	187	1	0	1	0	1	0	0	0	0	3639	1725	60	0	770	0	CNKSR3	6	154743668	Frame_Shift_Del	DEL	T	TCGA-27-1835-01A-01D-1494-08	37499389	154743668	16371399	34	12967											
DLL1	28514	broad.mit.edu	37	chr6	170599203	170599203	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggccgagagcaccgccaGggccagcgcgcaccgactgc	9	1	14	17	5	0	1	0	0	0	1	0	3	0	1	5	2	3	2	5	2	1	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr6:170599203G>A	uc003qxm.3	-	0	495	c.25C>T	c.(25-27)Ctg>Ttg	p.L9L	DLL1_uc011ehc.1_Silent_p.L9L|DLL1_uc003qxn.3_Silent_p.L9L	NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	9					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		AGCACCGCCAGGGCCAGCGCG	0.761													A	170599203	G	A	170599203	2	1	187	1	0	0	0	0	0	0	0	1	4605	991	35	2		2	DLL1	6	170599203	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	15855535	170599203	515864	35	12968											
HOXA6	3203	broad.mit.edu	37	chr7	27186942	27186942	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccgcgcaggagttcaTccgctgcatccaagggtaaa	10	8	10	13	3	1	0	1	0	0	0	3	1	3	1	3	2	2	5	3	2	4	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:27186942T>G	uc003syo.2	-	0	452	c.427A>C	c.(427-429)Atg>Ctg	p.M143L	HOXA-AS3_uc003syr.2_Intron|HOXA-AS3_uc003syp.2_Missense_Mutation_p.S9A	NM_024014	NP_076919	P31267	HXA6_HUMAN	Homo sapiens homeobox A6 (HOXA6), mRNA.	143						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						CAGGAGTTCATCCGCTGCATC	0.562													G	27186942	T	G	27186942	3	3	187	1	0	0	0	0	1	0	0	0	7351	1435	50	5	282	5	HOXA6	7	27186942	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08		27186942	131951721	36	12969											
ABCB1	5243	broad.mit.edu	37	chr7	87179256	87179256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacattttcacggccatagcGaatgttttcagctatcgtgg	9	13	10	9	3	2	0	2	0	0	0	3	2	2	0	1	2	2	2	1	2	3	6	rs142600685	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:87179256G>A	uc003uiz.2	-	13	1958	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	ABCB1_uc011khc.2_Missense_Mutation_p.R425C	NM_000927	NP_000918	P08183	MDR1_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.	489	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)	CGGCCATAGCGAATGTTTTCA	0.428													A	87179256	G	A	87179256	3	1	187	1	0	0	0	0	1	0	0	0	40	1058	37	1	2441	1	ABCB1	7	87179256	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	59992314	87179256	71959407	37	12970											
MCM7	4176	broad.mit.edu	37	chr7	99693696	99693696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcagccagcaccagggcCccaccctctaaggtcagttc	8	7	10	16	0	3	0	2	0	1	0	4	0	3	0	5	3	2	2	5	3	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:99693696C>T	uc003usw.1	-	10	1806	c.1296G>A	c.(1294-1296)ggG>ggA	p.G432G	MCM7_uc003usv.1_Silent_p.G256G|MCM7_uc003usx.1_Silent_p.G256G|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	432	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCACCAGGGCCCCACCCTCTA	0.612													T	99693696	C	T	99693696	2	4	187	1	0	0	0	0	0	0	0	1	9467	610	22	2		2	MCM7	7	99693696	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	12514440	99693696	59444967	38	12971											
MUC17	140453	broad.mit.edu	37	chr7	100681846	100681846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcctacaactgctgaCgatactagcatgccaacctc	11	10	5	15	1	2	1	1	1	1	0	4	2	2	1	3	0	7	2	3	0	5	3	rs138267850		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:100681846C>T	uc003uxp.1	+	2	7202	c.7149C>T	c.(7147-7149)gaC>gaT	p.D2383D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2383	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.A2382V(1)		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)					CAACTGCTGACGATACTAGCA	0.498													T	100681846	C	T	100681846	2	4	187	1	0	0	0	0	0	0	0	1	10050	535	19	1		1	MUC17	7	100681846	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	988150	100681846	58456817	39	12972											
PIK3CG	5294	broad.mit.edu	37	chr7	106508257	106508257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctggagaccagcgtggCggcggacttctaccaccggc	7	5	15	14	5	1	1	0	0	1	1	1	3	1	2	3	5	3	1	3	5	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr7:106508257C>T	uc003vdv.4	+	1	336	c.251C>T	c.(250-252)gCg>gTg	p.A84V	PIK3CG_uc003vdu.3_Missense_Mutation_p.A84V|PIK3CG_uc003vdw.3_Missense_Mutation_p.A84V	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	84					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						ACCAGCGTGGCGGCGGACTTC	0.637													T	106508257	C	T	106508257	3	4	187	1	0	0	0	0	1	0	0	0	11993	768	27	1	253	1	PIK3CG	7	106508257	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	5826411	106508257	52630406	40	12973											
EBF2	64641	broad.mit.edu	37	chr8	25766052	25766052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaattctgattgcacttgaGgaaaaattttaaaaagaatc	18	12	6	5	0	1	3	0	2	1	1	2	4	1	4	0	1	1	1	0	1	7	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr8:25766052G>T	uc003xes.2	-	6	836	c.571C>A	c.(571-573)Ctc>Atc	p.L191I	DOCK5_uc003xek.3_Intron	NM_022659	NP_073150	Q9HAK2	COE2_HUMAN	Homo sapiens early B-cell factor 2 (EBF2), mRNA.	191					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTGCACTTGAGGAAAAATTTT	0.363													T	25766052	G	T	25766052	3	4	187	1	0	0	0	0	1	0	0	0	4920	1000	35	4	1196	4	EBF2	8	25766052	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		25766052	120597970	41	12974											
TMC1	117531	broad.mit.edu	37	chr9	75441788	75441789	+	Frame_Shift_Ins	INS	-	-	A																															tttttaattcccccagtggcINSaaaaatagaatgtttgaagt																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:75441788_75441789insA	uc004aiz.1	+	20	2547_2548	c.2007_2008insA	c.(2005-2010)ggcaaafs	p.G669fs	TMC1_uc010moz.1_Frame_Shift_Ins_p.G627fs|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Frame_Shift_Ins_p.G523fs|TMC1_uc010mpa.1_Frame_Shift_Ins_p.G523fs	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	669					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						CCCCCAGTGGCAAAAATAGAAT	0.411													A	75441789	-	A	75441788	7	5	187	1	0	1	1	0	0	0	0	0	16084	697	25	0	2073	0	TMC1	9	75441788	Frame_Shift_Ins	INS	-	TCGA-27-1835-01A-01D-1494-08		75441788	65771643	42	12975											
ACTL7B	10880	broad.mit.edu	37	chr9	111618206	111618206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggggctgttccttgtcGccatctgcctcccttgctcc	2	13	10	16	1	1	0	0	0	1	0	5	0	4	0	5	2	2	4	5	2	0	3	rs139165156		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:111618206G>A	uc004bdi.3	-	0	70	c.5C>T	c.(4-6)gCg>gTg	p.A2V		NM_006686	NP_006677	Q9Y614	ACL7B_HUMAN	Homo sapiens actin-like 7B (ACTL7B), mRNA.	2						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GTTCCTTGTCGCCATCTGCCT	0.667													A	111618206	G	A	111618206	3	1	187	1	0	0	0	0	1	0	0	0	201	1087	38	1	1246	1	ACTL7B	9	111618206	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	36176418	111618206	29595225	43	12976											
COL5A1	1289	broad.mit.edu	37	chr9	137620520	137620520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaattcgctttcagtacaCggaaggagacggcgagggtg	10	7	15	9	5	1	1	1	0	0	1	2	4	1	2	0	4	1	3	0	4	3	3	rs148548209		TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr9:137620520C>T	uc004cfe.3	+	5	1173	c.791C>T	c.(790-792)aCg>aTg	p.T264M		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	264	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTCAGTACACGGAAGGAGAC	0.612													T	137620520	C	T	137620520	3	4	187	1	0	0	0	0	1	0	0	0	3727	536	19	1	813	1	COL5A1	9	137620520	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	26002314	137620520	3592911	44	12977											
CALML5	51806	broad.mit.edu	37	chr10	5540984	5540984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggcgagcatcctcgCgaactcctcgtagttcaccc	6	9	9	17	4	1	0	1	0	0	0	6	2	4	0	4	1	2	3	4	1	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:5540984C>T	uc001iic.2	-	0	550	c.418G>A	c.(418-420)Gcg>Acg	p.A140T		NM_017422	NP_059118	Q9NZT1	CALL5_HUMAN	Homo sapiens calmodulin-like 5 (CALML5), mRNA.	140	EF-hand 4.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						AGCATCCTCGCGAACTCCTCG	0.701													T	5540984	C	T	5540984	3	4	187	1	0	0	0	0	1	0	0	0	2615	768	27	1	26	1	CALML5	10	5540984	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		5540984	129993763	45	12978											
SLK	9748	broad.mit.edu	37	chr10	105752828	105752828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacttacatgataataagAtcatccacagagatctgaag	17	10	6	8	0	2	4	1	2	1	2	3	5	3	4	1	0	2	0	1	0	5	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr10:105752828A>G	uc001kxo.1	+	3	485	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	SLK_uc001kxp.1_Missense_Mutation_p.I151V	NM_014720	NP_055535	Q9H2G2	SLK_HUMAN	Homo sapiens STE20-like kinase (SLK), mRNA.	151	Protein kinase.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAATAAGATCATCCACAG	0.333													G	105752828	A	G	105752828	3	3	187	1	0	0	0	0	1	0	0	0	14842	333	12	3	465	3	SLK	10	105752828	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	100211844	105752828	29781919	46	12979											
IFITM1	8519	broad.mit.edu	37	chr11	314342	314342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggcttcatagcattcGcctactccgtgaaggtgcgt	6	12	12	11	3	2	1	1	1	1	0	4	1	3	1	2	2	3	2	2	2	3	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:314342G>A	uc001loy.4	+	0	352	c.172G>A	c.(172-174)Gcc>Acc	p.A58T		NM_003641	NP_003632	P13164	IFM1_HUMAN	Homo sapiens interferon induced transmembrane protein 1 (9-27) (IFITM1), mRNA.	58					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		CATAGCATTCGCCTACTCCGT	0.612													A	314342	G	A	314342	3	1	187	1	0	0	0	0	1	0	0	0	7584	1087	38	1	174	1	IFITM1	11	314342	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		314342	134692174	47	12980											
SYT9	143425	broad.mit.edu	37	chr11	7334771	7334771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataatgatgacgggagaCggagtaacagcaaggcttgt	13	8	15	5	2	0	3	0	2	0	1	0	6	0	5	0	4	2	3	0	4	3	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:7334771C>T	uc001mfe.3	+	2	880	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	SYT9_uc001mfd.3_Non-coding_Transcript|SYT9_uc009yfi.3_Intron	NM_175733	NP_783860	Q86SS6	SYT9_HUMAN	Homo sapiens synaptotagmin IX (SYT9), mRNA.	215						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.R215W(2)		NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGACGGGAGACGGAGTAACAG	0.398													T	7334771	C	T	7334771	3	4	187	1	0	0	0	0	1	0	0	0	15578	527	19	1	653	1	SYT9	11	7334771	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	7020429	7334771	127671745	48	12981											
OR5J2	282775	broad.mit.edu	37	chr11	55944236	55944236	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatctgggcatgatcctctTaatccaaatcacctccaaac	13	10	5	13	0	3	1	1	1	2	0	6	2	6	1	4	1	1	1	4	1	4	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:55944236T>A	uc010rjb.2	+	0	143	c.143T>A	c.(142-144)tTa>tAa	p.L48*		NM_001005492	NP_001005492	Q8NH18	OR5J2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily J, member 2 (OR5J2), mRNA.	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ATGATCCTCTTAATCCAAATC	0.428													A	55944236	T	A	55944236	4	1	187	1	0	0	0	0	0	1	0	0	11241	1764	61	5	145	5	OR5J2	11	55944236	Nonsense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	48609465	55944236	79062280	49	12982											
POLA2	23649	broad.mit.edu	37	chr11	65048610	65048610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaaggaatattctctgtttCctggacaggtgagattggag	10	14	12	5	0	1	1	0	1	1	1	3	5	2	4	1	4	0	1	1	4	3	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:65048610C>A	uc001odj.3	+	7	1224	c.892C>A	c.(892-894)Cct>Act	p.P298T	POLA2_uc010rod.1_Missense_Mutation_p.P90T|POLA2_uc001odk.3_5'UTR	NM_002689	NP_002680	Q14181	DPOA2_HUMAN	Homo sapiens polymerase (DNA directed), alpha 2 (70kD subunit) (POLA2), mRNA.	298					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	TTCTCTGTTTCCTGGACAGGT	0.512													A	65048610	C	A	65048610	3	1	187	1	0	0	0	0	1	0	0	0	12265	855	30	4	922	4	POLA2	11	65048610	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	9104374	65048610	69957906	50	12983											
OR10G7	390265	broad.mit.edu	37	chr11	123909464	123909464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccgcttggggacaccaagGtcatcagcattttgggcacc	8	9	12	12	1	2	0	2	0	0	0	2	1	2	1	3	4	2	3	3	4	1	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr11:123909464G>A	uc001pzq.1	-	0	245	c.245C>T	c.(244-246)aCc>aTc	p.T82I		NM_001004463	NP_001004463	Q8NGN6	O10G7_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 7 (OR10G7), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T82T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GGACACCAAGGTCATCAGCAT	0.532													A	123909464	G	A	123909464	3	1	187	1	0	0	0	0	1	0	0	0	10978	1261	44	2	694	2	OR10G7	11	123909464	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	58860854	123909464	11097052	51	12984											
IQSEC3	440073	broad.mit.edu	37	chr12	248252	248254	+	In_Frame_Del	DEL	GAG	GAG	-																															cccccaaaacagaggaggaaGaggaggaggaggagacggcg																										TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:248252_248254delGAG	uc001qhw.2	+	3	1723_1725	c.1723_1725delGAG	c.(1723-1725)gagdel	p.E579del	IQSEC3_uc001qhu.1_In_Frame_Del_p.E276del|LOC574538_uc001qhv.1_Intron	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	579	Poly-Glu.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		Agaggaggaagaggaggaggagg	0.7													-	248254	GAG	-	248252	7	5	187	1	0	1	0	1	0	0	0	0	7877	943	33	0	1737	0	IQSEC3	12	248252	In_Frame_Del	DEL	GAG	TCGA-27-1835-01A-01D-1494-08		248252	133603643	52	12985											
C3AR1	719	broad.mit.edu	37	chr12	8211864	8211864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtggtagctcagactcGtagaaggaattgctagaagc	11	10	12	8	1	1	3	1	0	0	3	2	4	1	4	1	2	3	4	1	2	6	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:8211864G>A	uc001qtv.1	-	1	1010	c.918C>T	c.(916-918)taC>taT	p.Y306Y	C3AR1_uc021quj.1_Silent_p.Y306Y	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	306					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		GCTCAGACTCGTAGAAGGAAT	0.438													A	8211864	G	A	8211864	2	1	187	1	0	0	0	0	0	0	0	1	2226	1140	40	1		1	C3AR1	12	8211864	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	7963612	8211864	125640031	53	12986											
C12orf51	283450	broad.mit.edu	37	chr12	112622744	112622744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgggcttgctgcctccgatGctgagcacggtggggtccga	4	9	16	12	4	0	1	0	1	0	0	3	3	2	1	3	4	4	4	3	4	0	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:112622744G>A	uc021reb.1	-	60	10020	c.9624C>T	c.(9622-9624)agC>agT	p.S3208S		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TGCCTCCGATGCTGAGCACGG	0.627													A	112622744	G	A	112622744	2	1	187	1	0	0	0	0	0	0	0	1	1709	1310	46	2		2	C12orf51	12	112622744	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	104410880	112622744	21229151	54	12987											
DDX54	79039	broad.mit.edu	37	chr12	113600992	113600992	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagaattcctggtcccGctgccgggcctcctccctcc	4	10	10	17	2	0	1	0	0	0	1	5	2	5	1	7	2	1	2	7	2	2	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr12:113600992G>T	uc001tuq.4	-	15	2054	c.2026C>A	c.(2026-2028)Cgg>Agg	p.R676R	DDX54_uc001tup.3_Silent_p.R676R	NM_001111322	NP_001104792	Q8TDD1	DDX54_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 54 (DDX54), transcript variant 1, mRNA.	676					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	p.R676L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TCCTGGTCCCGCTGCCGGGCC	0.667													T	113600992	G	T	113600992	2	4	187	1	0	0	0	0	0	0	0	1	4406	1086	38	4		4	DDX54	12	113600992	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	978248	113600992	20250903	55	12988											
LTBP2	4053	broad.mit.edu	37	chr14	74991895	74991895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgtatctctgcaatcCcctgttcaggcattggtggg	5	14	10	12	0	2	0	1	0	1	0	5	0	4	0	3	3	1	4	3	3	2	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991895C>G	uc001xqa.3	-	14	2849	c.2462G>C	c.(2461-2463)gGg>gCg	p.G821A		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	821					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding	p.G821R(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CTCTGCAATCCCCTGTTCAGG	0.612													G	74991895	C	G	74991895	3	3	187	1	0	0	0	0	1	0	0	0	9144	623	22	4	3091	4	LTBP2	14	74991895	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		74991895	32357645	56	12989			1	33		2	2	33	C		7.959179e-05
LTBP2	4053	broad.mit.edu	37	chr14	74991927	74991927	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	attggtggggttgtggcattCcctgtggaggagagagggga	7	10	20	4	0	0	1	0	0	0	1	1	5	1	4	1	8	0	2	1	8	0	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:74991927C>G	uc001xqa.3	-	15	2816	c.2429_splice	c.e15-1	p.G810_splice		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	810					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TTGTGGCATTCCCTGTGGAGG	0.597													G	74991927	C	G	74991927	2	3	187	1	0	0	0	0	0	0	0	1	9144	869	30	4		4	LTBP2	14	74991927	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	32	74991927	32357613	57	12990			1	33		2	2	33	C		7.959179e-05
STON2	85439	broad.mit.edu	37	chr14	81744671	81744671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaagcactgaaagggttGataggggagggctgtacatc	14	7	15	5	0	0	3	0	2	0	1	1	4	0	4	0	4	2	4	0	4	5	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:81744671G>C	uc010tvu.2	-	3	1182	c.984C>G	c.(982-984)atC>atG	p.I328M	STON2_uc001xvk.1_Missense_Mutation_p.I328M|STON2_uc010tvt.2_Missense_Mutation_p.I125M	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	328					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TGAAAGGGTTGATAGGGGAGG	0.512													C	81744671	G	C	81744671	3	2	187	1	0	0	0	0	1	0	0	0	15414	1280	45	4	1739	4	STON2	14	81744671	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	6752744	81744671	25604869	58	12991											
C14orf109	26175	broad.mit.edu	37	chr14	93651787	93651787	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattcagagctgagtgacTctttaacgcttgccgtggga	9	13	11	8	2	2	3	1	2	1	1	2	4	2	4	1	1	3	2	1	1	2	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr14:93651787T>A	uc001ybk.4	+						MOAP1_uc001ybj.3_5'Flank|MOAP1_uc021saw.1_5'Flank|C14orf109_uc010auo.3_Missense_Mutation_p.S19T|C14orf109_uc021sax.1_5'Flank	NM_015676	NP_056491	Q8N6I4	CN109_HUMAN	Homo sapiens chromosome 14 open reading frame 109 (C14orf109), transcript variant 2, mRNA.							integral to membrane				kidney(1)	1		all_cancers(154;0.11)|Acute lymphoblastic leukemia(33;0.0488)		Epithelial(152;0.176)|all cancers(159;0.197)|COAD - Colon adenocarcinoma(157;0.202)		GCTGAGTGACTCTTTAACGCT	0.502													A	93651787	T	A	93651787	3	1	187	1	0	0	0	0	1	0	0	0	1752	1551	54	5	57	5	C14orf109	14	93651787	Missense_Mutation	SNP	T	TCGA-27-1835-01A-01D-1494-08	11907116	93651787	13697753	59	12992											
RLTPR	146206	broad.mit.edu	37	chr16	67683828	67683828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaacgacgtggcccaggCgcagcgcagccgcccggaac	9	2	14	16	6	0	1	0	1	0	0	0	3	0	2	3	3	4	2	3	3	2	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr16:67683828C>T	uc002etn.3	+	20	2159	c.2039C>T	c.(2038-2040)gCg>gTg	p.A680V	RLTPR_uc010cel.1_Missense_Mutation_p.A673V|RLTPR_uc010vjr.2_Missense_Mutation_p.A644V	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	680										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GTGGCCCAGGCGCAGCGCAGC	0.647													T	67683828	C	T	67683828	3	4	187	1	0	0	0	0	1	0	0	0	13485	768	27	1	2121	1	RLTPR	16	67683828	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		67683828	22670925	60	12993											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:7578203C>T	uc002gim.2	-	5	840	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_uc002gig.1_Missense_Mutation_p.V216M|TP53_uc002gih.3_Missense_Mutation_p.V216M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.V84M|TP53_uc010cnf.1_Missense_Mutation_p.V84M|TP53_uc002gii.1_Missense_Mutation_p.V84M|TP53_uc010cni.1_Missense_Mutation_p.V216M|TP53_uc010cnh.1_Missense_Mutation_p.V216M|TP53_uc002gij.2_Missense_Mutation_p.V216M|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.V123M|TP53_uc002gio.2_Missense_Mutation_p.V84M|TP53_uc010vug.2_Missense_Mutation_p.V177M|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(117)|p.S215R(17)|p.V216del(16)|p.S215I(16)|p.V216L(15)|p.0?(8)|p.S215N(7)|p.V216G(6)|p.S215G(6)|p.S215C(5)|p.?(5)|p.V216E(5)|p.V216fs*6(4)|p.S215fs*32(4)|p.V216A(3)|p.S215T(3)|p.V84M(3)|p.V123M(3)|p.V216fs*32(2)|p.V216fs*33(2)|p.S215fs*27(2)|p.S215fs*29(2)|p.V216fs*5(2)|p.S215S(2)|p.V216_Y220delVVVPY(2)|p.D208_V216delDRNTFRHSV(2)|p.S215fs*31(2)|p.V216fs*31(2)|p.S215_V216insX(2)|p.D207_V216del10(2)|p.H214fs*5(2)|p.S215_V218>R(2)|p.S215_V218>M(2)|p.K164_P219del(1)|p.S215del(1)|p.H214_S215insX(1)|p.T211_S215delTFRHS(1)|p.S215_V218>RR(1)|p.D208fs*1(1)|p.V216fs*28(1)|p.T211fs*28(1)|p.R213_S215>X(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)		GGCACCACCACACTATGTCGA	0.537		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)			T	7578203	C	T	7578203	3	4	187	1	0	0	0	0	1	0	0	0	16482	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		7578203	73617007	61	12994											
PLXDC1	57125	broad.mit.edu	37	chr17	37265501	37265501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgactggggcactcacCgaagcctgccggtgggtgtt	5	8	16	12	3	1	0	1	0	0	0	1	2	1	0	3	5	2	2	3	5	1	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:37265501C>T	uc002hrg.2	-	3	611	c.399_splice	c.e3+1	p.S133_splice	PLXDC1_uc002hrh.2_Splice_Site|PLXDC1_uc002hri.2_Splice_Site|PLXDC1_uc002hrj.1_Splice_Site|PLXDC1_uc002hrk.1_Splice_Site	NM_020405	NP_065138	Q8IUK5	PXDC1_HUMAN	Homo sapiens plexin domain containing 1 (PLXDC1), mRNA.	133					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GGGCACTCACCGAAGCCTGCC	0.657													T	37265501	C	T	37265501	2	4	187	1	0	0	0	0	0	0	0	1	12194	666	23	1		1	PLXDC1	17	37265501	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	29687298	37265501	43929709	62	12995											
SCN4A	6329	broad.mit.edu	37	chr17	62036660	62036660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcacagacagtccctgtaCgttggccaggcctagctcta	9	9	10	13	1	1	1	0	0	1	1	2	1	2	1	3	2	3	4	3	2	4	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr17:62036660C>T	uc002jds.1	-	11	2061	c.1984G>A	c.(1984-1986)Gta>Ata	p.V662I		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	662					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTCCCTGTACGTTGGCCAGG	0.592													T	62036660	C	T	62036660	3	4	187	1	0	0	0	0	1	0	0	0	14013	536	19	1	3578	1	SCN4A	17	62036660	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	24771159	62036660	19158550	63	12996											
PALM	5064	broad.mit.edu	37	chr19	746653	746653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtggtcatcgaagacgcgGctgagcccaaggagcctgca	9	6	15	11	3	1	2	1	1	0	1	2	4	1	3	2	4	3	2	2	4	2	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:746653G>A	uc002lpm.1	+	8	1197	c.1003G>A	c.(1003-1005)Gct>Act	p.A335T	PALM_uc002lpn.1_Missense_Mutation_p.A291T|PALM_uc010xfu.1_Missense_Mutation_p.A200T	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	335					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		CGAAGACGCGGCTGAGCCCAA	0.647													A	746653	G	A	746653	3	1	187	1	0	0	0	0	1	0	0	0	11484	1203	42	2	1037	2	PALM	19	746653	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		746653	58382330	64	12997											
SAFB2	9667	broad.mit.edu	37	chr19	5587954	5587954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgcgtgcctggtgctcctCtagccgctggttgtgctctc	1	12	14	14	3	2	0	0	0	2	0	4	0	3	0	3	3	4	4	3	3	1	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr19:5587954C>T	uc002mcd.3	-	18	2775	c.2563G>A	c.(2563-2565)Gag>Aag	p.E855K		NM_014649	NP_055464	Q14151	SAFB2_HUMAN	Homo sapiens scaffold attachment factor B2 (SAFB2), mRNA.	855	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGGTGCTCCTCTAGCCGCTGG	0.652													T	5587954	C	T	5587954	3	4	187	1	0	0	0	0	1	0	0	0	13898	922	32	2	310	2	SAFB2	19	5587954	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	4841301	5587954	53541029	65	12998											
ANGPT4	51378	broad.mit.edu	37	chr20	860425	860425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttccgctgaaaattcaCggtgccattctcacggcgct	8	10	9	14	4	2	1	2	1	1	0	4	1	3	1	3	2	1	3	3	2	2	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:860425C>T	uc002wei.3	-	5	1121	c.1018G>A	c.(1018-1020)Gtg>Atg	p.V340M	ANGPT4_uc010zpn.2_Missense_Mutation_p.V334M	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	340	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TGAAAATTCACGGTGCCATTC	0.617													T	860425	C	T	860425	3	4	187	1	0	0	0	0	1	0	0	0	612	536	19	1	509	1	ANGPT4	20	860425	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08		860425	62165095	66	12999											
PTPRT	11122	broad.mit.edu	37	chr20	41306569	41306569	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacccccctcacctggtcGtgtgaggagcactcggatct	6	9	11	15	3	2	1	1	1	1	0	4	3	2	3	4	3	2	2	4	3	1	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:41306569G>A	uc002xkg.3	-	6	1274	c.1090C>T	c.(1090-1092)Cga>Tga	p.R364*	PTPRT_uc010ggj.3_Nonsense_Mutation_p.R364*	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	364	Fibronectin type-III 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TCACCTGGTCGTGTGAGGAGC	0.562													A	41306569	G	A	41306569	4	1	187	1	0	0	0	0	0	1	0	0	12900	1153	40	1	3396	1	PTPRT	20	41306569	Nonsense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	40446144	41306569	21718951	67	13000											
MATN4	8785	broad.mit.edu	37	chr20	43927042	43927042	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgccgtagcgacccagAgggaactcggtgcgcacgcg	7	4	17	13	7	0	1	0	0	0	1	1	3	0	2	2	3	4	2	2	3	2	1			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43927042A>T	uc002xnn.2	-	6	1381	c.1194T>A	c.(1192-1194)ccT>ccA	p.P398P	MATN4_uc002xnp.2_Silent_p.P316P|MATN4_uc002xno.2_Silent_p.P357P|MATN4_uc010zwr.1_Silent_p.P346P|MATN4_uc002xnr.1_Silent_p.P398P	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	439	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGCGACCCAGAGGGAACTCGG	0.662													T	43927042	A	T	43927042	2	4	187	1	0	0	0	0	0	0	0	1	9411	291	11	5		5	MATN4	20	43927042	Silent	SNP	A	TCGA-27-1835-01A-01D-1494-08	2620473	43927042	19098478	68	13001											
MATN4	8785	broad.mit.edu	37	chr20	43933002	43933002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgctgcacccccaccGcgtaaatttcaatgccgcgg	7	6	10	18	7	1	0	1	0	0	0	1	0	1	0	5	1	2	3	5	1	3	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:43933002G>A	uc002xnn.2	-	2	696	c.509C>T	c.(508-510)gCg>gTg	p.A170V	MATN4_uc002xnp.2_Missense_Mutation_p.A170V|MATN4_uc002xno.2_Missense_Mutation_p.A170V|MATN4_uc010zwr.1_Missense_Mutation_p.A118V|MATN4_uc002xnr.1_Missense_Mutation_p.A170V|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	170	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CACCCCCACCGCGTAAATTTC	0.706													A	43933002	G	A	43933002	3	1	187	1	0	0	0	0	1	0	0	0	9411	1087	38	1	1268	1	MATN4	20	43933002	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	5960	43933002	19092518	69	13002											
MMP9	4318	broad.mit.edu	37	chr20	44641083	44641083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatacagtttgttcctcGtggcggcgcatgagttcggc	6	11	14	10	4	0	1	0	1	0	0	3	2	1	2	1	4	1	4	1	4	1	4			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr20:44641083G>A	uc002xqz.3	+	7	1211	c.1192G>A	c.(1192-1194)Gtg>Atg	p.V398M		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	398					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTTGTTCCTCGTGGCGGCGCA	0.662													A	44641083	G	A	44641083	3	1	187	1	0	0	0	0	1	0	0	0	9745	1145	40	1	1222	1	MMP9	20	44641083	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08	708081	44641083	18384437	70	13003											
MIOX	55586	broad.mit.edu	37	chr22	50928230	50928230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggacgtggacaagctgcGgccctactaccaggggctca	8	5	14	14	3	1	0	1	0	0	0	1	2	1	2	3	5	4	2	3	5	3	2	rs140377157	byFrequency	TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chr22:50928230G>A	uc003bll.1	+	9	917	c.803G>A	c.(802-804)cGg>cAg	p.R268Q	MIOX_uc003blm.1_Silent_p.A263A|MIOX_uc003bln.1_Silent_p.A224A	NM_017584	NP_060054	Q9UGB7	MIOX_HUMAN	Homo sapiens myo-inositol oxygenase (MIOX), mRNA.	268					inositol catabolic process	cytoplasm|inclusion body	aldo-keto reductase (NADP) activity|ferric iron binding|inositol oxygenase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	13		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GACAAGCTGCGGCCCTACTAC	0.662													A	50928230	G	A	50928230	3	1	187	1	0	0	0	0	1	0	0	0	9665	1116	39	1	841	1	MIOX	22	50928230	Missense_Mutation	SNP	G	TCGA-27-1835-01A-01D-1494-08		50928230	376336	71	13004											
EIF1AX	1964	broad.mit.edu	37	chrX	20148634	20148634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggtacatctacttacGtcatcaatatcttcatcatc	13	13	3	12	1	6	0	4	0	2	0	7	0	6	0	0	1	3	1	0	1	6	5			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:20148634G>A	uc004czt.3	-	6	637	c.429_splice	c.e6+1	p.D143_splice		NM_001412	NP_001403	P47813	IF1AX_HUMAN	Homo sapiens eukaryotic translation initiation factor 1A, X-linked (EIF1AX), mRNA.	143						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCTACTTACGTCATCAATAT	0.338													A	20148634	G	A	20148634	2	1	187	1	0	0	0	0	0	0	0	1	5031	1159	40	1		1	EIF1AX	23	20148634	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08		20148634	135121926	72	13005											
ZNF674	641339	broad.mit.edu	37	chrX	46359485	46359485	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattctctgatgtttGatgagagttgacttcctact	9	17	9	6	0	1	5	0	5	1	1	3	6	2	5	1	0	1	3	1	0	3	6			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:46359485G>T	uc004dgr.3	-	5	1766	c.1539C>A	c.(1537-1539)atC>atA	p.I513I	ZNF674_uc011mlg.2_Silent_p.I507I|ZNF674_uc022bvl.1_Silent_p.I508I	NM_001039891	NP_001034980	Q2M3X9	ZN674_HUMAN	Homo sapiens zinc finger protein 674 (ZNF674), transcript variant 1, mRNA.	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TCTGATGTTTGATGAGAGTTG	0.398													T	46359485	G	T	46359485	2	4	187	1	0	0	0	0	0	0	0	1	18182	1280	45	4		4	ZNF674	23	46359485	Silent	SNP	G	TCGA-27-1835-01A-01D-1494-08	26210851	46359485	108911075	73	13006											
ACRC	93953	broad.mit.edu	37	chrX	70830591	70830591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactgctggcttatgcAgcactggtgagatgtggtac	10	11	13	7	0	0	2	0	2	0	1	0	3	0	2	0	3	5	5	0	3	4	2			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:70830591A>G	uc004eae.2	+	10	2173	c.1672A>G	c.(1672-1674)Agc>Ggc	p.S558G	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	558						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGGCTTATGCAGCACTGGTGA	0.493													G	70830591	A	G	70830591	3	3	187	1	0	0	0	0	1	0	0	0	171	188	7	3	1710	3	ACRC	23	70830591	Missense_Mutation	SNP	A	TCGA-27-1835-01A-01D-1494-08	24471106	70830591	84439969	74	13007											
RPS4X	6191	broad.mit.edu	37	chrX	71492579	71492579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcagcaatggtgaggCggataccctttcctcgggga	7	11	12	11	2	2	1	1	1	1	0	5	3	3	3	2	5	2	1	2	5	2	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:71492579C>T	uc004ear.3	-	6	830	c.734G>A	c.(733-735)cGc>cAc	p.R245H		NM_001007	NP_000998	P62701	RS4X_HUMAN	Homo sapiens ribosomal protein S4, X-linked (RPS4X), mRNA.	245					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					AATGGTGAGGCGGATACCCTT	0.488													T	71492579	C	T	71492579	3	4	187	1	0	0	0	0	1	0	0	0	13736	768	27	1	61	1	RPS4X	23	71492579	Missense_Mutation	SNP	C	TCGA-27-1835-01A-01D-1494-08	661988	71492579	83777981	75	13008											
COL4A6	1288	broad.mit.edu	37	chrX	107407829	107407829	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcacatgctctcaacttaCctcttggccctgccttcccc	6	11	5	19	0	2	0	1	0	2	0	4	0	3	0	5	1	5	2	5	1	2	3			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:107407829C>A	uc004enw.4	-	40	4175	c.4072_splice	c.e40+1	p.G1358_splice	COL4A6_uc004env.4_Splice_Site_p.G1357_splice|COL4A6_uc011msn.2_Splice_Site_p.G1333_splice|COL4A6_uc010npk.3_Intron	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1358	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTCAACTTACCTCTTGGCCC	0.592									Alport syndrome with Diffuse Leiomyomatosis				A	107407829	C	A	107407829	5	1	187	1	0	0	0	0	0	0	1	0	3726	521	18	4	1026	4	COL4A6	23	107407829	Splice_Site	SNP	C	TCGA-27-1835-01A-01D-1494-08	35915250	107407829	47862731	76	13009											
MAGEC2	51438	broad.mit.edu	37	chrX	141291591	141291591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcaggaccaccaagaatCagagaagaggatgtggagaa	16	5	12	8	0	2	4	2	0	0	4	3	8	3	6	3	3	0	0	3	3	4	0			TCGA-27-1835-01A-01D-1494-08	TCGA-27-1835-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d5fd73b-4cad-44ae-8c79-67f2b9d30328	e94c4f81-564e-4435-a308-6d27aa33bd82	g.chrX:141291591C>T	uc022cfj.1	-	0	183	c.183G>A	c.(181-183)ctG>ctA	p.L61L	MAGEC2_uc004fbu.2_Silent_p.L61L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	61						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					CACCAAGAATCAGAGAAGAGG	0.532										HNSCC(46;0.14)			T	141291591	C	T	141291591	2	4	187	1	0	0	0	0	0	0	0	1	9256	813	29	2		2	MAGEC2	23	141291591	Silent	SNP	C	TCGA-27-1835-01A-01D-1494-08	33883762	141291591	13978969	77	13010											
PTCH2	8643	broad.mit.edu	37	chr1	45288988	45288988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatggccccatcggtcaCgggggcaaatgtgtgctcaa	9	7	15	10	2	2	1	2	0	0	1	3	2	2	1	2	5	1	2	2	5	2	0	rs142187073	byFrequency	TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:45288988C>T	uc010olf.2	-	19	3196	c.3184G>A	c.(3184-3186)Gtg>Atg	p.V1062M	PTCH2_uc021omv.1_Missense_Mutation_p.V1062M|PTCH2_uc010olg.2_Missense_Mutation_p.V760M	NM_003738	NP_003729	Q9Y6C5	PTC2_HUMAN	Homo sapiens patched 2 (PTCH2), transcript variant 1, mRNA.	1062					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					CCATCGGTCACGGGGGCAAAT	0.617									Basal Cell Nevus syndrome				T	45288988	C	T	45288988	3	4	188	1	0	0	0	0	1	0	0	0	12816	536	19	1	459	1	PTCH2	1	45288988	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		45288988	203961633	1	13011											
NRD1	4898	broad.mit.edu	37	chr1	52260179	52260179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacttcagagttggcatcacCcttgttcagagctttcactt	8	14	8	11	0	4	2	4	0	0	2	4	3	4	2	1	1	1	4	1	1	0	6			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:52260179C>T	uc001ctc.4	-	25	3266	c.2944G>A	c.(2944-2946)Ggt>Agt	p.G982S	NRD1_uc009vzb.3_Missense_Mutation_p.G677S|NRD1_uc001cte.3_Missense_Mutation_p.G850S|NRD1_uc001ctd.4_Missense_Mutation_p.G914S|NRD1_uc001ctf.2_Missense_Mutation_p.G914S|NRD1_uc010ong.1_Non-coding_Transcript	NM_002525	NP_001229290	O43847	NRDC_HUMAN	Homo sapiens nardilysin (N-arginine dibasic convertase) (NRD1), transcript variant 1, mRNA.	913					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTGGCATCACCCTTGTTCAGA	0.547													T	52260179	C	T	52260179	3	4	188	1	0	0	0	0	1	0	0	0	10721	623	22	2	747	2	NRD1	1	52260179	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	6971191	52260179	196990442	2	13012											
HIPK1	204851	broad.mit.edu	37	chr1	114500841	114500841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtttccttgcagcctGgaaccacccagatttgcact	8	11	10	12	0	0	1	0	0	0	1	1	2	1	2	4	2	4	3	4	2	1	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:114500841G>A	uc001eem.3	+	7	2070	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	HIPK1_uc001eel.3_Missense_Mutation_p.G637R|HIPK1_uc001een.3_Missense_Mutation_p.G637R|HIPK1_uc001eeo.3_Missense_Mutation_p.G263R|HIPK1_uc001eep.3_Missense_Mutation_p.G243R	NM_198268	NP_938010	Q86Z02	HIPK1_HUMAN	Homo sapiens homeodomain interacting protein kinase 1 (HIPK1), transcript variant 1, mRNA.	637					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGCAGCCTGGAACCACCCA	0.463													A	114500841	G	A	114500841	3	1	188	1	0	0	0	0	1	0	0	0	7171	1349	47	2	1953	2	HIPK1	1	114500841	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	62240662	114500841	134749780	3	13013											
RYR2	6262	broad.mit.edu	37	chr1	237777379	237777379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacagagcaggaggaattgCtgaaatttcactatcacact	14	10	9	8	0	2	3	2	2	0	1	2	5	2	5	0	2	2	2	0	2	3	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:237777379C>T	uc001hyl.1	+	36	5071	c.4951C>T	c.(4951-4953)Ctg>Ttg	p.L1651L		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1651	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGAGGAATTGCTGAAATTTCA	0.463													T	237777379	C	T	237777379	2	4	188	1	0	0	0	0	0	0	0	1	13860	796	28	2		2	RYR2	1	237777379	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	123276538	237777379	11473242	4	13014											
OR2T34	127068	broad.mit.edu	37	chr1	248737350	248737350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccttcctgcggccggCggcagaattcatcctgtgga	7	8	13	13	3	1	1	1	0	0	1	3	2	3	2	4	5	1	1	4	5	2	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr1:248737350C>T	uc001iep.1	-	0	709	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_001001821	NP_001001821	Q8NGX1	O2T34_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 34 (OR2T34), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A237P(4)		breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGCGGCCGGCGGCAGAATTC	0.562													T	248737350	C	T	248737350	3	4	188	1	0	0	0	0	1	0	0	0	11101	768	27	1	251	1	OR2T34	1	248737350	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	10959971	248737350	513271	5	13015											
RCAN2	51776	broad.mit.edu	37	chr2	174131096	174131096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagagaggggtcgatactCagacagaagcaggaacaaat	16	6	12	7	1	2	3	2	0	0	3	3	6	2	4	0	3	3	1	0	3	4	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:174131096C>T	uc002uhz.3	+	19	2221	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GGTCGATACTCAGACAGAAGC	0.448													T	174131096	C	T	174131096	3	4	188	1	0	0	0	0	1	0	0	0	13257	838	29	2		2	RCAN2	2	174131096	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		174131096	69068277	6	13016											
ACADL	33	broad.mit.edu	37	chr2	211070506	211070506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatcacttaatgacccAttactgatgaacacctgcaa	16	9	4	12	0	1	3	1	3	0	0	1	3	1	3	2	0	4	1	2	0	5	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr2:211070506A>G	uc002vdz.4	-	5	846	c.618T>C	c.(616-618)aaT>aaC	p.N206N		NM_001608	NP_001599	P28330	ACADL_HUMAN	Homo sapiens acyl-CoA dehydrogenase, long chain (ACADL), nuclear gene encoding mitochondrial protein, mRNA.	206					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		TTAATGACCCATTACTGATGA	0.388													G	211070506	A	G	211070506	2	3	188	1	0	0	0	0	0	0	0	1	112	214	8	3		3	ACADL	2	211070506	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08	36939410	211070506	32128867	7	13017											
NKTR	4820	broad.mit.edu	37	chr3	42676817	42676817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgcagagattaagagcAtatagaccacctagtggaga	17	7	11	6	0	0	4	0	0	0	4	0	7	0	4	2	1	2	2	2	1	5	4	rs142015233		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:42676817A>G	uc003clo.3	+	11	1269	c.1122A>G	c.(1120-1122)gcA>gcG	p.A374A	NKTR_uc003clm.1_Silent_p.A121A|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Silent_p.A121A|NKTR_uc003clq.1_Silent_p.A264A|NKTR_uc003clr.1_Silent_p.A121A|NKTR_uc003cls.3_Silent_p.A74A	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	374					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GATTAAGAGCATATAGACCAC	0.388													G	42676817	A	G	42676817	2	3	188	1	0	0	0	0	0	0	0	1	10524	204	8	3		3	NKTR	3	42676817	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08		42676817	155345613	8	13018											
KBTBD8	84541	broad.mit.edu	37	chr3	67054666	67054666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgttggacgactgtttgCgcgatgccagttgcaatgga	9	12	13	7	3	0	0	0	0	0	0	0	4	0	2	1	2	3	4	1	2	2	4			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:67054666C>T	uc003dmy.3	+	2	1328	c.1275C>T	c.(1273-1275)tgC>tgT	p.C425C	KBTBD8_uc011bfv.2_Intron	NM_032505	NP_115894	Q8NFY9	KBTB8_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 8 (KBTBD8), mRNA.	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													T	67054666	C	T	67054666	2	4	188	1	0	0	0	0	0	0	0	1	8057	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	24377849	67054666	130967764	9	13019											
ROBO1	6091	broad.mit.edu	37	chr3	78734960	78734960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatttaaagtctggcagatGtaataaccaacatcagatcg	16	10	7	8	1	2	2	1	0	1	2	3	2	2	2	1	1	2	2	1	1	5	4			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:78734960G>A	uc003dqe.2	-	9	1486	c.1278C>T	c.(1276-1278)taC>taT	p.Y426Y	ROBO1_uc003dqc.2_Silent_p.Y390Y|ROBO1_uc003dqd.2_Silent_p.Y390Y|ROBO1_uc003dqb.2_Silent_p.Y387Y|ROBO1_uc010hoh.2_5'UTR|ROBO1_uc003dqf.1_Silent_p.Y105Y	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	426	Ig-like C2-type 4.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		TCTGGCAGATGTAATAACCAA	0.393													A	78734960	G	A	78734960	2	1	188	1	0	0	0	0	0	0	0	1	13604	1372	48	2		2	ROBO1	3	78734960	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	11680294	78734960	119287470	10	13020											
DNAJB8	165721	broad.mit.edu	37	chr3	128181904	128181904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacggtcatacagggagCgtttcttggagtcagacaga	11	8	13	9	2	3	2	2	0	1	2	3	4	3	4	0	3	3	2	0	3	1	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:128181904C>T	uc003ekk.1	-	2	1846	c.185G>A	c.(184-186)cGc>cAc	p.R62H	DNAJB8-AS1_uc003ekl.1_5'Flank|DNAJB8_uc021xdk.1_Missense_Mutation_p.R62H	NM_153330	NP_699161	Q8NHS0	DNJB8_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily B, member 8 (DNAJB8), mRNA.	62	J.				protein folding		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	11				GBM - Glioblastoma multiforme(114;0.177)		ATACAGGGAGCGTTTCTTGGA	0.602													T	128181904	C	T	128181904	3	4	188	1	0	0	0	0	1	0	0	0	4665	768	27	1	517	1	DNAJB8	3	128181904	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	49446944	128181904	69840526	11	13021											
ARL14	80117	broad.mit.edu	37	chr3	160395695	160395695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagaggagacactttggcGttcttcaagcagaactgagg	12	9	12	8	1	3	4	2	1	1	3	3	5	3	4	0	3	2	2	0	3	3	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:160395695G>A	uc003fdq.3	+	0	748	c.561G>A	c.(559-561)gcG>gcA	p.A187A		NM_025047	NP_079323	Q8N4G2	ARL14_HUMAN	Homo sapiens ADP-ribosylation factor-like 14 (ARL14), mRNA.	187					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			ACACTTTGGCGTTCTTCAAGC	0.473													A	160395695	G	A	160395695	2	1	188	1	0	0	0	0	0	0	0	1	933	1132	40	1		1	ARL14	3	160395695	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	32213791	160395695	37626735	12	13022											
KNG1	3827	broad.mit.edu	37	chr3	186459456	186459456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattcaggaaaagaacaagGgcatactcgtagacatgact	16	7	11	7	1	1	3	1	1	0	2	2	5	1	5	0	3	2	2	0	3	6	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr3:186459456G>A	uc011bsa.2	+	9	1505	c.1271G>A	c.(1270-1272)gGg>gAg	p.G424E	KNG1_uc003fqr.3_Intron|KNG1_uc021xil.1_Intron	NM_001102416	NP_001095886	P01042	KNG1_HUMAN	Homo sapiens kininogen 1 (KNG1), transcript variant 1, mRNA.	424	His-rich.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding	p.E423D(1)		endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AAAGAACAAGGGCATACTCGT	0.458													A	186459456	G	A	186459456	3	1	188	1	0	0	0	0	1	0	0	0	8485	1232	43	2	1309	2	KNG1	3	186459456	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	26063761	186459456	11562974	13	13023											
UGT2B10	7365	broad.mit.edu	37	chr4	69681966	69681966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttaaacttgaagtttatCctacatctttaactaaaact	14	16	2	9	0	2	1	0	1	2	0	3	1	3	1	1	0	4	1	1	0	8	8			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:69681966C>A	uc003hee.3	+	0	254	c.229C>A	c.(229-231)Cct>Act	p.P77T	UGT2B10_uc011cam.2_Missense_Mutation_p.P77T	NM_001075	NP_001066	P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	77					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGTTTATCCTACATCTTT	0.348													A	69681966	C	A	69681966	3	1	188	1	0	0	0	0	1	0	0	0	17058	855	30	4	231	4	UGT2B10	4	69681966	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		69681966	121472310	14	13024											
TLR2	7097	broad.mit.edu	37	chr4	154625962	154625962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggaagcccaggaaagctCccagcaggaacatctgctat	15	5	10	11	0	1	0	0	0	1	0	2	3	2	3	2	3	5	3	2	3	5	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr4:154625962C>T	uc003inq.3	+	2	2122	c.1903C>T	c.(1903-1905)Ccc>Tcc	p.P635S	TLR2_uc003inr.3_Missense_Mutation_p.P635S|TLR2_uc003ins.3_Missense_Mutation_p.P635S|TLR2_uc021xtl.1_Missense_Mutation_p.P635S	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	635					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAGGAAAGCTCCCAGCAGGAA	0.537													T	154625962	C	T	154625962	3	4	188	1	0	0	0	0	1	0	0	0	16051	855	30	2	1905	2	TLR2	4	154625962	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	84943996	154625962	36528314	15	13025											
CDH9	1007	broad.mit.edu	37	chr5	26902589	26902589	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcaaagtacttactttaTtaaattgttcctggcatctg	10	19	5	7	0	2	0	1	0	1	0	3	0	3	0	1	1	2	3	1	1	6	9			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:26902589T>A	uc003jgs.1	-	6	1418	c.1249A>T	c.(1249-1251)Ata>Tta	p.I417L		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	417	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						ACTTACTTTATTAAATTGTTC	0.308													A	26902589	T	A	26902589	3	1	188	1	0	0	0	0	1	0	0	0	3147	1493	52	5	1144	5	CDH9	5	26902589	Missense_Mutation	SNP	T	TCGA-27-1836-01A-01D-1494-08		26902589	154012671	16	13026											
SPEF2	79925	broad.mit.edu	37	chr5	35641735	35641735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagatgcaaaccatgcaaCgtctgacaaatttaagactt	15	10	8	8	1	1	3	0	1	1	2	1	4	1	3	1	1	4	2	1	1	4	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:35641735C>T	uc003jjo.3	+	2	475	c.364C>T	c.(364-366)Cgt>Tgt	p.R122C	SPEF2_uc003jjn.1_Missense_Mutation_p.R122C|SPEF2_uc003jjq.4_Missense_Mutation_p.R122C	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	122					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|protein dimerization activity	p.R122H(2)		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)			AACCATGCAACGTCTGACAAA	0.358													T	35641735	C	T	35641735	3	4	188	1	0	0	0	0	1	0	0	0	15131	536	19	1	374	1	SPEF2	5	35641735	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	8739146	35641735	145273525	17	13027											
EFNA5	1946	broad.mit.edu	37	chr5	106763058	106763058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcttgaaccctttggaaGtgtggtcgcaggcactgtag	8	12	12	9	1	1	1	0	1	1	0	3	2	1	2	1	3	1	3	1	3	3	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:106763058G>C	uc003kol.3	-	1	560	c.278C>G	c.(277-279)aCt>aGt	p.T93S	EFNA5_uc010jbr.1_Missense_Mutation_p.T93S	NM_001962	NP_001953	P52803	EFNA5_HUMAN	Homo sapiens ephrin-A5 (EFNA5), mRNA.	93					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		CCCTTTGGAAGTGTGGTCGCA	0.488													C	106763058	G	C	106763058	3	2	188	1	0	0	0	0	1	0	0	0	4993	1029	36	4	424	4	EFNA5	5	106763058	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	71121323	106763058	74152202	18	13028											
KIF4B	285643	broad.mit.edu	37	chr5	154396474	154396474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatctccagactcttcttttGaatatatcccacctaagcca	11	14	3	13	0	3	2	0	1	3	1	5	2	4	2	4	0	1	0	4	0	5	7			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:154396474G>A	uc010jih.1	+	0	3215	c.3055G>A	c.(3055-3057)Gaa>Aaa	p.E1019K		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	1019	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CTCTTCTTTTGAATATATCCC	0.403													A	154396474	G	A	154396474	3	1	188	1	0	0	0	0	1	0	0	0	8362	1291	45	2	3057	2	KIF4B	5	154396474	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	47633416	154396474	26518786	19	13029											
SLIT3	6586	broad.mit.edu	37	chr5	168176560	168176560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacctagggttcccaCtgacgatccgcctcttcctc	5	11	8	17	2	2	1	0	1	2	0	6	2	5	1	5	2	0	2	5	2	1	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr5:168176560C>T	uc010jjg.3	-	18	2474	c.2054G>A	c.(2053-2055)aGt>aAt	p.S685N	SLIT3_uc003mab.3_Missense_Mutation_p.S685N	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	685	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGGGTTCCCACTGACGATCCG	0.557													T	168176560	C	T	168176560	3	4	188	1	0	0	0	0	1	0	0	0	14835	565	20	2	2589	2	SLIT3	5	168176560	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	13780086	168176560	12738700	20	13030											
KIF13A	63971	broad.mit.edu	37	chr6	17788096	17788097	+	Frame_Shift_Del	DEL	AA	AA	-																															acctctcccttacgcagtttAagtcttcttcctaacatcag																										TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:17788096_17788097delAA	uc003ncg.4	-	26	3431_3432	c.3271_3272delTT	c.(3271-3273)ttafs	p.L1091fs	KIF13A_uc003ncf.3_Frame_Shift_Del_p.L1078fs|KIF13A_uc003nch.4_Frame_Shift_Del_p.L1091fs|KIF13A_uc003nci.4_Frame_Shift_Del_p.L1078fs	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1091					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TACGCAGTTTAAGTCTTCTTCC	0.366													-	17788097	AA	-	17788096	7	5	188	1	0	1	0	1	0	0	0	0	8332	372	13	0	2222	0	KIF13A	6	17788096	Frame_Shift_Del	DEL	AA	TCGA-27-1836-01A-01D-1494-08		17788096	153326971	21	13031											
COL11A2	1302	broad.mit.edu	37	chr6	33143356	33143356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcatcccatcaccttctCgcccatgagccctgggggcc	5	8	8	20	1	3	1	2	1	1	0	5	1	4	1	6	2	1	0	6	2	0	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:33143356C>T	uc003ocx.1	-	29	2599	c.2371G>A	c.(2371-2373)Gag>Aag	p.E791K	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.E705K|COL11A2_uc003ocz.1_Missense_Mutation_p.E684K	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	791	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ATCACCTTCTCGCCCATGAGC	0.657													T	33143356	C	T	33143356	3	4	188	1	0	0	0	0	1	0	0	0	3699	893	31	1	2987	1	COL11A2	6	33143356	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	15355260	33143356	137971711	22	13032											
GPR31	2853	broad.mit.edu	37	chr6	167571202	167571202	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaccctgacccggaacaGgaaggtccacagcgccaccg	11	2	10	18	3	0	1	0	1	0	0	1	3	1	3	6	3	2	0	6	3	2	0			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr6:167571202G>C	uc011egq.2	-	0	118	c.118C>G	c.(118-120)Ctg>Gtg	p.L40V		NM_005299	NP_005290	O00270	GPR31_HUMAN	Homo sapiens G protein-coupled receptor 31 (GPR31), mRNA.	40						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		ACCCGGAACAGGAAGGTCCAC	0.662													C	167571202	G	C	167571202	3	2	188	1	0	0	0	0	1	0	0	0	6741	991	35	4	844	4	GPR31	6	167571202	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	134427846	167571202	3543865	23	13033											
TNKS	8658	broad.mit.edu	37	chr8	9565981	9565981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcattaatttcaaacaaccGcagtctcatgaaacagcact	16	10	4	11	1	3	1	3	1	1	0	4	1	3	1	1	0	4	2	1	0	4	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:9565981G>A	uc003wss.3	+	8	1562	c.1557G>A	c.(1555-1557)ccG>ccA	p.P519P	TNKS_uc011kwv.1_Silent_p.P519P|TNKS_uc011kww.2_Silent_p.P282P	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	519					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		TCAAACAACCGCAGTCTCATG	0.328													A	9565981	G	A	9565981	2	1	188	1	0	0	0	0	0	0	0	1	16419	1074	38	1		1	TNKS	8	9565981	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08		9565981	136798041	24	13034											
KIAA1429	25962	broad.mit.edu	37	chr8	95531632	95531632	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggcttgcagcacaccAgggtgagcacttgttactgg	7	12	13	9	0	0	1	0	1	0	0	0	1	0	1	1	3	4	5	1	3	1	4			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:95531632A>G	uc003ygo.2	-	8	2165	c.2094T>C	c.(2092-2094)ccT>ccC	p.P698P	KIAA1429_uc003ygp.3_Silent_p.P698P|KIAA1429_uc010maz.2_Non-coding_Transcript	NM_015496	NP_056311	Q69YN4	VIR_HUMAN	Homo sapiens KIAA1429 (KIAA1429), transcript variant 1, mRNA.	698					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GCAGCACACCAGGGTGAGCAC	0.388													G	95531632	A	G	95531632	2	3	188	1	0	0	0	0	0	0	0	1	8289	175	7	3		3	KIAA1429	8	95531632	Silent	SNP	A	TCGA-27-1836-01A-01D-1494-08	85965651	95531632	50832390	25	13035											
FOXH1	8928	broad.mit.edu	37	chr8	145700407	145700407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaccgcccagaagttgccCttggcctggggctttgcagg	5	9	14	13	2	0	1	0	0	0	1	1	2	0	1	4	4	2	3	4	4	1	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr8:145700407C>T	uc003zdc.3	-	2	891	c.312G>A	c.(310-312)aaG>aaA	p.K104K		NM_003923	NP_003914	O75593	FOXH1_HUMAN	Homo sapiens forkhead box H1 (FOXH1), mRNA.	104					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			AGAAGTTGCCCTTGGCCTGGG	0.687													T	145700407	C	T	145700407	2	4	188	1	0	0	0	0	0	0	0	1	6059	680	24	2		2	FOXH1	8	145700407	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	50168775	145700407	663615	26	13036											
FAM102A	399665	broad.mit.edu	37	chr9	130710434	130710434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccactgctggtcccacCacccttacacgtcagctgca	7	7	7	20	1	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	1	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:130710434C>T	uc004bsx.2	-	5	928	c.532G>A	c.(532-534)Ggt>Agt	p.G178S	FAM102A_uc004bsw.1_Missense_Mutation_p.G36S|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	178	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTGGTCCCACCACCCTTACAC	0.612													T	130710434	C	T	130710434	3	4	188	1	0	0	0	0	1	0	0	0	5427	594	21	2	646	2	FAM102A	9	130710434	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		130710434	10502997	27	13037											
LAMC3	10319	broad.mit.edu	37	chr9	133947006	133947006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaccagggccatcacctgCttccaggtacagcaggagcg	9	7	11	14	1	2	0	1	0	1	0	3	1	3	1	4	3	5	3	4	3	2	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr9:133947006C>T	uc004caa.1	+	17	3303	c.3205C>T	c.(3205-3207)Ctt>Ttt	p.L1069F		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	1069	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCATCACCTGCTTCCAGGTAC	0.672													T	133947006	C	T	133947006	3	4	188	1	0	0	0	0	1	0	0	0	8675	797	28	2	3275	2	LAMC3	9	133947006	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	3236572	133947006	7266425	28	13038											
MUC2	4583	broad.mit.edu	37	chr11	1094855	1094855	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgaacgacacctactaCgcaccaggtactcaggctgt	10	8	9	14	2	1	1	1	1	0	0	2	2	2	1	3	2	4	3	3	2	4	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:1094855C>T	uc001lsx.1	+	32	5958	c.5931C>T	c.(5929-5931)taC>taT	p.Y1977Y		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	2029						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	ACACCTACTACGCACCAGGTA	0.607													T	1094855	C	T	1094855	2	4	188	1	0	0	0	0	0	0	0	1	10051	547	19	1		1	MUC2	11	1094855	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08		1094855	133911661	29	13039											
SLC22A10	387775	broad.mit.edu	37	chr11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaatgcagaccctgcGtgtggctttggcatgtctgg	7	10	14	10	1	1	2	0	0	1	2	1	2	1	2	2	3	2	3	2	3	1	1	rs112720090		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:63071595G>A	uc009yor.3	+	7	1509	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	434						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGACCCTGCGTGTGGCTTTG	0.453													A	63071595	G	A	63071595	3	1	188	1	0	0	0	0	1	0	0	0	14535	1145	40	1	1331	1	SLC22A10	11	63071595	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	61976740	63071595	71934921	30	13040											
CABP4	57010	broad.mit.edu	37	chr11	67223870	67223870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgggctacatgcccacCgagatggagctcctggaggt	8	7	13	13	1	0	1	0	0	0	1	1	4	1	3	4	4	3	2	4	4	1	1	rs139927588		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr11:67223870C>T	uc001olo.3	+	2	575	c.498C>T	c.(496-498)acC>acT	p.T166T	CABP4_uc001oln.3_Silent_p.T61T	NM_145200	NP_660201	P57796	CABP4_HUMAN	Homo sapiens calcium binding protein 4 (CABP4), mRNA.	166	EF-hand 2.				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			ACATGCCCACCGAGATGGAGC	0.652													T	67223870	C	T	67223870	2	4	188	1	0	0	0	0	0	0	0	1	2559	639	23	1		1	CABP4	11	67223870	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08	4152275	67223870	67782646	31	13041											
CACNB3	784	broad.mit.edu	37	chr12	49218469	49218469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggagatctgggaacccttCcagcctgagtgacattggca	10	8	12	11	0	1	3	0	2	1	1	2	5	2	4	3	3	2	1	3	3	1	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr12:49218469C>T	uc001rsl.2	+	4	884	c.425C>T	c.(424-426)tCc>tTc	p.S142F	CACNB3_uc010slx.2_Missense_Mutation_p.S129F|CACNB3_uc010sly.2_Missense_Mutation_p.S129F|CACNB3_uc010slz.2_Missense_Mutation_p.S141F|CACNB3_uc001rsk.2_5'UTR|CACNB3_uc021qxm.1_Missense_Mutation_p.S101F	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	142					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GGGAACCCTTCCAGCCTGAGT	0.493													T	49218469	C	T	49218469	3	4	188	1	0	0	0	0	1	0	0	0	2580	855	30	2	443	2	CACNB3	12	49218469	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		49218469	84633426	32	13042											
TP53	7157	broad.mit.edu	37	chr17	7578217	7578217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccacactatgtcgaaaaGtgtttctgtcatccaaatac	13	11	5	12	1	2	0	1	0	1	0	4	1	3	0	3	0	1	1	3	0	5	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:7578217G>A	uc002gim.2	-	5	826	c.632C>T	c.(631-633)aCt>aTt	p.T211I	TP53_uc002gig.1_Missense_Mutation_p.T211I|TP53_uc002gih.3_Missense_Mutation_p.T211I|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T79I|TP53_uc010cnf.1_Missense_Mutation_p.T79I|TP53_uc002gii.1_Missense_Mutation_p.T79I|TP53_uc010cni.1_Missense_Mutation_p.T211I|TP53_uc010cnh.1_Missense_Mutation_p.T211I|TP53_uc002gij.2_Missense_Mutation_p.T211I|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.T118I|TP53_uc002gio.2_Missense_Mutation_p.T79I|TP53_uc010vug.2_Missense_Mutation_p.T172I|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	211	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> S (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.T211I(14)|p.T211T(9)|p.0?(8)|p.T211N(8)|p.T211fs*4(5)|p.?(5)|p.N210fs*37(4)|p.T211fs*5(3)|p.D207_R213delDDRNTFR(2)|p.R209fs*35(2)|p.T211fs*36(2)|p.T211_S215delTFRHS(2)|p.D208_V216delDRNTFRHSV(2)|p.N210S(2)|p.R209_R213delRNTFR(2)|p.T211A(2)|p.T211fs*28(2)|p.D207_V216del10(2)|p.T211S(2)|p.K164_P219del(1)|p.N210D(1)|p.E204_N210delEYLDDRN(1)|p.T211_F212insX(1)|p.D208fs*1(1)|p.N210fs*7(1)|p.N210N(1)|p.N210H(1)|p.N210K(1)|p.N210T(1)|p.T211P(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)		ATGTCGAAAAGTGTTTCTGTC	0.532		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)			A	7578217	G	A	7578217	3	1	188	1	0	0	0	0	1	0	0	0	16482	1029	36	2	662	2	TP53	17	7578217	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08		7578217	73616993	33	13043											
DNAH9	1770	broad.mit.edu	37	chr17	11672470	11672470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacgagtgagaccatccGtgtgtgctacttcatggagc	9	9	12	11	2	1	1	1	1	0	1	2	4	2	2	2	1	3	2	2	1	1	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:11672470G>A	uc002gne.3	+	37	7444	c.7376G>A	c.(7375-7377)cGt>cAt	p.R2459H	DNAH9_uc010coo.3_Missense_Mutation_p.R1753H	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2459	AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAGACCATCCGTGTGTGCTAC	0.612													A	11672470	G	A	11672470	3	1	188	1	0	0	0	0	1	0	0	0	4647	1145	40	1	7526	1	DNAH9	17	11672470	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	4094253	11672470	69522740	34	13044											
SMCR7	125170	broad.mit.edu	37	chr17	18167560	18167560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctgatccggcccagcAtggcctcggaggagctgctg	5	7	16	13	2	0	1	0	1	0	0	2	3	1	3	4	5	4	3	4	5	0	0			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:18167560A>G	uc010vxq.2	+	3	906	c.880A>G	c.(880-882)Atg>Gtg	p.M294V	SMCR7_uc002gsu.3_3'UTR|SMCR7_uc002gst.3_Missense_Mutation_p.M283V	NM_148886	NP_631901	Q96C03	SMCR7_HUMAN	Homo sapiens Smith-Magenis syndrome chromosome region, candidate 7 (SMCR7), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	283						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(4)	9	all_neural(463;0.228)					CCGGCCCAGCATGGCCTCGGA	0.667													G	18167560	A	G	18167560	3	3	188	1	0	0	0	0	1	0	0	0	14884	217	8	3	894	3	SMCR7	17	18167560	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	6495090	18167560	63027650	35	13045											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799291	20799291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagactgccggcttcggagAccccccagcccctccccgct	5	6	10	20	3	0	2	0	0	0	2	2	3	1	2	8	2	2	3	8	2	1	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:20799291A>C	uc002gyf.3	-	0	163	c.43T>G	c.(43-45)Tct>Gct	p.S15A	AK057473_uc002gyg.1_Intron|AK057473_uc002gyh.1_Intron	NM_001004306	NP_001004306	Q6NUI1	C144L_HUMAN	Homo sapiens coiled-coil domain containing 144 family, N-terminal like (CCDC144NL), mRNA.	15										large_intestine(3)|lung(3)|skin(1)	7						GGCTTCGGAGACCCCCCAGCC	0.647											OREG0024248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	20799291	A	C	20799291	3	2	188	1	0	0	0	0	1	0	0	0	2805	275	10	5	638	5	CCDC144NL	17	20799291	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	2631731	20799291	60395919	36	13046											
KIF2B	84643	broad.mit.edu	37	chr17	51900492	51900492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagggcatctacgtggCgatccagcgcagtgacaagc	11	5	13	12	3	1	2	0	1	1	1	2	3	2	2	2	2	3	2	2	2	3	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:51900492C>T	uc002iua.2	+	0	254	c.98C>T	c.(97-99)gCg>gTg	p.A33V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	33					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATCTACGTGGCGATCCAGCGC	0.552													T	51900492	C	T	51900492	3	4	188	1	0	0	0	0	1	0	0	0	8356	768	27	1	100	1	KIF2B	17	51900492	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	31101201	51900492	29294718	37	13047											
ENPP7	339221	broad.mit.edu	37	chr17	77705154	77705154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacttcaccctggtcaccGgtgagtactgccctgtgacg	6	9	11	15	2	2	2	2	2	0	0	2	2	2	2	4	2	2	1	4	2	1	2	rs150916536		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr17:77705154G>A	uc002jxa.3	+	1	273	c.253_splice	c.e1+1	p.G85_splice		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	85					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGTCACCGGTGAGTACTG	0.647													A	77705154	G	A	77705154	3	1	188	1	0	0	0	0	1	0	0	0	5176	1130	39	1	255	1	ENPP7	17	77705154	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	25804662	77705154	3490056	38	13048											
CELF5	60680	broad.mit.edu	37	chr19	3282231	3282231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggcgccgtcagcctcaaCgggctgcctgccacacccat	8	6	10	17	3	2	0	2	0	0	0	2	0	2	0	5	2	4	1	5	2	2	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:3282231C>T	uc002lxm.3	+	6	895	c.858C>T	c.(856-858)aaC>aaT	p.N286N	CELF5_uc010dtj.2_Silent_p.N286N|CELF5_uc002lxl.2_Silent_p.N286N|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	286					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						TCAGCCTCAACGGGCTGCCTG	0.647													T	3282231	C	T	3282231	2	4	188	1	0	0	0	0	0	0	0	1	3249	535	19	1		1	CELF5	19	3282231	Silent	SNP	C	TCGA-27-1836-01A-01D-1494-08		3282231	55846752	39	13049											
OR7A10	390892	broad.mit.edu	37	chr19	14951969	14951969	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgagaggtgagatgcacAggtggaaaatgccttatact	14	9	12	6	0	0	2	0	2	0	2	0	5	0	3	1	3	4	1	1	3	5	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:14951969A>T	uc002mzx.1	-	0	721	c.721T>A	c.(721-723)Tgt>Agt	p.C241S		NM_001005190	NP_001005190	O76100	OR7AA_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 10 (OR7A10), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					TGAGATGCACAGGTGGAAAAT	0.488													T	14951969	A	T	14951969	3	4	188	1	0	0	0	0	1	0	0	0	11290	188	7	5	212	5	OR7A10	19	14951969	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08	11669738	14951969	44177014	40	13050											
ZNF208	7757	broad.mit.edu	37	chr19	22156724	22156724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttgccgcattcttcaCatttgtagggtttctctcca	6	16	8	11	1	3	0	1	0	2	0	5	0	4	0	2	2	1	4	2	2	1	6			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:22156724C>T	uc021urr.1	-	3	1261	c.1112G>A	c.(1111-1113)tGt>tAt	p.C371Y	ZNF208_uc002nqo.1_Intron	NM_007153	NP_009084			Homo sapiens zinc finger protein 208 (ZNF208), mRNA.											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				GCATTCTTCACATTTGTAGGG	0.383													T	22156724	C	T	22156724	3	4	188	1	0	0	0	0	1	0	0	0	17867	478	17	2	2734	2	ZNF208	19	22156724	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	7204755	22156724	36972259	41	13051											
KLK6	5653	broad.mit.edu	37	chr19	51466663	51466663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagagtttggctgggcGtgccaggcgcaacagcatga	9	8	15	9	2	1	2	1	1	0	1	1	3	1	2	1	3	3	4	1	3	1	2			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:51466663G>A	uc002puh.3	-	2	432	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R114C|KLK6_uc002puj.3_Missense_Mutation_p.R7C|KLK6_uc010ycn.2_Missense_Mutation_p.R7C|KLK6_uc002pul.3_Missense_Mutation_p.R114C|KLK6_uc002pum.3_Missense_Mutation_p.R7C	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	114	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		TTGGCTGGGCGTGCCAGGCGC	0.612													A	51466663	G	A	51466663	3	1	188	1	0	0	0	0	1	0	0	0	8466	1145	40	1	406	1	KLK6	19	51466663	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	29309939	51466663	7662320	42	13052											
NLRP11	204801	broad.mit.edu	37	chr19	56320357	56320357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaaaggcatatggtgcGtcaacttttccgggtcacgg	12	9	11	9	3	2	0	2	0	0	0	3	0	3	0	1	4	3	1	1	4	5	3			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr19:56320357G>A	uc010ygf.2	-	4	2330	c.1619C>T	c.(1618-1620)aCg>aTg	p.T540M	NLRP11_uc002qlz.3_Missense_Mutation_p.T441M|NLRP11_uc002qmb.3_Missense_Mutation_p.T441M|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	540							ATP binding	p.T540M(4)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CATATGGTGCGTCAACTTTTC	0.448													A	56320357	G	A	56320357	3	1	188	1	0	0	0	0	1	0	0	0	10549	1145	40	1	1514	1	NLRP11	19	56320357	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	4853694	56320357	2808626	43	13053											
DIDO1	11083	broad.mit.edu	37	chr20	61512320	61512320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagggcgccgcaaggcGgtgtgggcagcagcaccctc	6	4	17	14	3	0	0	0	0	0	0	1	0	0	0	2	4	3	6	2	4	1	0			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr20:61512320G>A	uc002ydr.2	-	15	5300	c.4988C>T	c.(4987-4989)cCg>cTg	p.P1663L	DIDO1_uc002yds.2_Missense_Mutation_p.P1663L	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	1663					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GCCGCAAGGCGGTGTGGGCAG	0.731													A	61512320	G	A	61512320	3	1	188	1	0	0	0	0	1	0	0	0	4561	1116	39	1	1738	1	DIDO1	20	61512320	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08		61512320	1513200	44	13054											
PLA2G3	50487	broad.mit.edu	37	chr22	31534350	31534350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagaaggccacgcccaCgatgtccgagatggagtcgt	10	7	14	10	4	0	3	0	1	0	2	2	6	1	4	3	2	0	1	3	2	2	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:31534350C>T	uc003aka.3	-	2	823	c.694G>A	c.(694-696)Gtg>Atg	p.V232M		NM_015715	NP_056530	Q9NZ20	PA2G3_HUMAN	Homo sapiens phospholipase A2, group III (PLA2G3), mRNA.	232	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCACGCCCACGATGTCCGAG	0.617													T	31534350	C	T	31534350	3	4	188	1	0	0	0	0	1	0	0	0	12077	536	19	1	855	1	PLA2G3	22	31534350	Missense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08		31534350	19770216	45	13055											
TTLL12	23170	broad.mit.edu	37	chr22	43575872	43575872	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtccaggtccctcaggggCcacagcagcgtgtaggccac	7	6	14	14	1	1	0	1	0	0	0	3	0	3	0	4	4	2	2	4	4	1	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:43575872C>T	uc003bdq.3	-	3	743	c.681G>A	c.(679-681)tgG>tgA	p.W227*		NM_015140	NP_055955	Q14166	TTL12_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 12 (TTLL12), mRNA.	227					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CCCTCAGGGGCCACAGCAGCG	0.672													T	43575872	C	T	43575872	4	4	188	1	0	0	0	0	0	1	0	0	16827	740	26	2	1297	2	TTLL12	22	43575872	Nonsense_Mutation	SNP	C	TCGA-27-1836-01A-01D-1494-08	12041522	43575872	7728694	46	13056											
CELSR1	9620	broad.mit.edu	37	chr22	46931874	46931874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgttgagctggaagacGtcccacgcgccccccaacac	8	6	9	18	4	1	2	0	1	1	1	3	3	2	3	4	1	2	2	4	1	2	1			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chr22:46931874G>A	uc003bhw.1	-	0	1194	c.1194C>T	c.(1192-1194)gaC>gaT	p.D398D		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	398	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTGGAAGACGTCCCACGCGC	0.682													A	46931874	G	A	46931874	2	1	188	1	0	0	0	0	0	0	0	1	3251	1136	40	1		1	CELSR1	22	46931874	Silent	SNP	G	TCGA-27-1836-01A-01D-1494-08	3356002	46931874	4372692	47	13057											
PPEF1	5475	broad.mit.edu	37	chrX	18797156	18797156	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctcagagaggaacccgtAtgtttttaatggtgactttg	9	13	10	9	1	1	2	1	1	0	1	1	4	1	3	3	2	1	2	3	2	3	5			TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:18797156A>T	uc004cyq.3	+	9	1068	c.587A>T	c.(586-588)tAt>tTt	p.Y196F	PPEF1_uc004cyp.3_Missense_Mutation_p.Y196F|PPEF1_uc004cyr.3_Missense_Mutation_p.Y196F|PPEF1_uc004cys.3_Missense_Mutation_p.Y196F|PPEF1_uc011mja.2_Missense_Mutation_p.Y131F|PPEF1_uc011mjb.2_Missense_Mutation_p.Y140F	NM_006240	NP_006231	O14829	PPE1_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 1 (PPEF1), transcript variant 1, mRNA.	196	Catalytic.				detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.P195Q(1)		breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					AGGAACCCGTATGTTTTTAAT	0.408													T	18797156	A	T	18797156	3	4	188	1	0	0	0	0	1	0	0	0	12384	449	16	5	613	5	PPEF1	23	18797156	Missense_Mutation	SNP	A	TCGA-27-1836-01A-01D-1494-08		18797156	136473404	48	13058											
GPR64	10149	broad.mit.edu	37	chrX	19025360	19025360	+	Frame_Shift_Del	DEL	G	G	-																															ggcctctccccacctggctcGggttgatgtgctttaatgtg																										TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:19025360delG	uc004cyx.3	-	19	1924	c.1682delC	c.(1681-1683)ccgfs	p.P561fs	GPR64_uc004cze.3_Frame_Shift_Del_p.P531fs|GPR64_uc004cza.3_Frame_Shift_Del_p.P539fs|GPR64_uc004czf.3_Frame_Shift_Del_p.P523fs|GPR64_uc004cyy.3_Frame_Shift_Del_p.P558fs|GPR64_uc004czc.3_Frame_Shift_Del_p.P545fs|GPR64_uc004cyz.3_Frame_Shift_Del_p.P547fs|GPR64_uc004czb.3_Frame_Shift_Del_p.P561fs|GPR64_uc004czd.3_Frame_Shift_Del_p.P537fs|GPR64_uc004cyw.3_Frame_Shift_Del_p.P545fs|GPR64_uc010nfj.3_Intron	NM_001079858	NP_001073327	Q8IZP9	GPR64_HUMAN	Homo sapiens G protein-coupled receptor 64 (GPR64), transcript variant 1, mRNA.	561					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CACCTGGCTCGGGTTGATGTG	0.502													-	19025360	G	-	19025360	7	5	188	1	0	1	0	1	0	0	0	0	6759	1116	39	0	1411	0	GPR64	23	19025360	Frame_Shift_Del	DEL	G	TCGA-27-1836-01A-01D-1494-08	228204	19025360	136245200	49	13059											
NXF5	55998	broad.mit.edu	37	chrX	101096651	101096651	+	Frame_Shift_Del	DEL	G	G	-																															gccctcagcacacaccttttGgttctcatcatcataaatct																										TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:101096651delG	uc011mrk.1	-	4	595	c.235delC	c.(235-237)caafs	p.Q79fs	NXF5_uc004eih.1_Non-coding_Transcript|NXF5_uc004eii.1_Non-coding_Transcript|NXF5_uc004eij.1_Non-coding_Transcript|NXF5_uc004eik.1_Intron|NXF5_uc004eil.1_Intron	NM_032946	NP_116564	Q9H1B4	NXF5_HUMAN	Homo sapiens nuclear RNA export factor 5 (NXF5), transcript variant 1, mRNA.	79	RRM.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CACACCTTTTGGTTCTCATCA	0.488													-	101096651	G	-	101096651	7	5	188	1	0	1	0	1	0	0	0	0	10862	1357	47	0	910	0	NXF5	23	101096651	Frame_Shift_Del	DEL	G	TCGA-27-1836-01A-01D-1494-08	82071291	101096651	54173909	50	13060											
F8	2157	broad.mit.edu	37	chrX	154159916	154159916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcggtcatgcctctgttccGaaagtctgagttgtggcacc	6	11	13	11	2	3	1	1	1	2	0	4	2	4	1	3	3	1	3	3	3	1	2	rs137852435		TCGA-27-1836-01A-01D-1494-08	TCGA-27-1836-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c58f090-31a3-4b2f-93e7-1ae6f6d73350	563efbbc-5c03-4e2c-b085-4cad0e1e43bf	g.chrX:154159916G>A	uc004fmt.3	-	13	2320	c.2149C>T	c.(2149-2151)Cgg>Tgg	p.R717W		NM_000132	NP_000123	P00451	FA8_HUMAN	Homo sapiens coagulation factor VIII, procoagulant component (F8), transcript variant 1, mRNA.	717	F5/8 type A 2.|Plastocyanin-like 4.		R -> L (in HEMA; mild).|R -> W (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCTCTGTTCCGAAAGTCTGAG	0.423													A	154159916	G	A	154159916	3	1	188	1	0	0	0	0	1	0	0	0	5392	1057	37	1	4986	1	F8	23	154159916	Missense_Mutation	SNP	G	TCGA-27-1836-01A-01D-1494-08	53063265	154159916	1110644	51	13061											
CYP4X1	260293	broad.mit.edu	37	chr1	47501571	47501571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatataatcatgaaatgcGctttcagcaaggagaccaac	15	9	9	8	1	2	2	2	1	0	1	2	4	2	3	1	2	3	2	1	2	5	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:47501571G>A	uc001cqt.3	+	4	836	c.586G>A	c.(586-588)Gct>Act	p.A196T	CYP4X1_uc001cqr.3_Missense_Mutation_p.A195T|CYP4X1_uc001cqs.3_Missense_Mutation_p.A131T	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	196						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CATGAAATGCGCTTTCAGCAA	0.428													A	47501571	G	A	47501571	3	1	189	1	0	0	0	0	1	0	0	0	4226	1087	38	1	604	1	CYP4X1	1	47501571	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08		47501571	201749050	1	13062											
SETDB1	9869	broad.mit.edu	37	chr1	150936730	150936730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcttcagaagaatcCgggctgggacagaacttact	10	11	9	11	1	3	3	1	0	2	3	5	4	5	4	2	2	2	1	2	2	4	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:150936730C>T	uc001evu.2	+	21	3956	c.3766C>T	c.(3766-3768)Cgg>Tgg	p.R1256W	SETDB1_uc001evv.2_Missense_Mutation_p.R1255W	NM_001145415	NP_001138887	Q15047	SETB1_HUMAN	Homo sapiens SET domain, bifurcated 1 (SETDB1), transcript variant 1, mRNA.	1256	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CAGAAGAATCCGGGCTGGGAC	0.507													T	150936730	C	T	150936730	3	4	189	1	0	0	0	0	1	0	0	0	14231	643	23	1	3848	1	SETDB1	1	150936730	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	103435159	150936730	98313891	2	13063											
FDPS	2224	broad.mit.edu	37	chr1	155288033	155288033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaccgcctgctgaagctctAttgccgggagcagccctatt	7	10	10	14	2	1	1	0	1	1	0	1	2	1	2	4	1	6	3	4	1	4	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:155288033A>G	uc001fkc.2	+	5	854	c.635A>G	c.(634-636)tAt>tGt	p.Y212C	FDPS_uc021paw.1_Missense_Mutation_p.Y146C|FDPS_uc001fkd.2_Missense_Mutation_p.Y146C|FDPS_uc021pax.1_Missense_Mutation_p.Y41C|FDPS_uc001fke.2_Missense_Mutation_p.Y212C|RUSC1-AS1_uc001fkh.1_Intron|RUSC1_uc001fkk.2_5'Flank|RUSC1_uc001fkj.2_5'Flank	NM_002004	NP_001229754	P14324	FPPS_HUMAN	Homo sapiens farnesyl diphosphate synthase (FDPS), transcript variant 1, mRNA.	212					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	CTGAAGCTCTATTGCCGGGAG	0.552													G	155288033	A	G	155288033	3	3	189	1	0	0	0	0	1	0	0	0	5852	449	16	3	653	3	FDPS	1	155288033	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	4351303	155288033	93962588	3	13064											
TPR	7175	broad.mit.edu	37	chr1	186310460	186310460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttattggtctccataactAcattcattgtttcagttttc	8	21	4	8	0	3	0	2	0	1	0	5	0	3	0	1	1	2	2	1	1	3	10			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr1:186310460A>G	uc001grv.3	-	27	4109	c.3812T>C	c.(3811-3813)gTa>gCa	p.V1271A	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	1271					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTCCATAACTACATTCATTGT	0.343			T	NTRK1	papillary thyroid								G	186310460	A	G	186310460	3	3	189	1	0	0	0	0	1	0	0	0	16517	391	14	3	3375	3	TPR	1	186310460	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	31022427	186310460	62940161	4	13065											
DPYSL5	56896	broad.mit.edu	37	chr2	27151139	27151139	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtgctaaggaggcacTggatttggggatcacaggcc	9	7	16	9	0	1	0	1	0	0	0	1	3	1	3	2	7	1	2	2	7	1	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:27151139T>C	uc002rhu.4	+	4	775	c.617T>C	c.(616-618)cTg>cCg	p.L206P	DPYSL5_uc002rhv.4_Missense_Mutation_p.L206P|DPYSL5_uc021vev.1_Missense_Mutation_p.L206P	NM_020134	NP_064519	Q9BPU6	DPYL5_HUMAN	Homo sapiens dihydropyrimidinase-like 5 (DPYSL5), transcript variant 1, mRNA.	206					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			breast(1)|endometrium(5)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGGAGGCACTGGATTTGGGG	0.478													C	27151139	T	C	27151139	3	2	189	1	0	0	0	0	1	0	0	0	4789	1580	55	3	631	3	DPYSL5	2	27151139	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08		27151139	216048234	5	13066											
ALPPL2	251	broad.mit.edu	37	chr2	233274470	233274470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaccgcctgcgacctggCgccccgcgccggcaccaccg	5	3	11	22	7	0	0	0	0	0	0	0	1	0	0	8	2	2	1	8	2	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr2:233274470C>T	uc002vss.4	+	10	1540	c.1487C>T	c.(1486-1488)gCg>gTg	p.A496V		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	496					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGCGACCTGGCGCCCCGCGCC	0.736													T	233274470	C	T	233274470	3	4	189	1	0	0	0	0	1	0	0	0	549	768	27	1	1529	1	ALPPL2	2	233274470	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	206123331	233274470	9924903	6	13067											
CCDC12	151903	broad.mit.edu	37	chr3	46965117	46965117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctcctcgatgacgggctCgggcttggcggcctccagct	4	8	13	16	4	0	1	0	1	0	0	4	2	2	1	4	4	1	3	4	4	0	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:46965117C>T	uc011baq.2	-	3	334	c.325G>A	c.(325-327)Gag>Aag	p.E109K	CCDC12_uc003cqo.2_Missense_Mutation_p.E109K	NM_144716	NP_653317	Q8WUD4	CCD12_HUMAN	Homo sapiens coiled-coil domain containing 12 (CCDC12), mRNA.	96										endometrium(1)|large_intestine(1)|urinary_tract(1)	3		Prostate(884;0.0143)|Ovarian(412;0.0448)|Acute lymphoblastic leukemia(5;0.143)		OV - Ovarian serous cystadenocarcinoma(275;2.2e-56)|BRCA - Breast invasive adenocarcinoma(193;0.00136)|KIRC - Kidney renal clear cell carcinoma(197;0.00703)|Kidney(197;0.00809)		ATGACGGGCTCGGGCTTGGCG	0.607											OREG0015545	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46965117	C	T	46965117	3	4	189	1	0	0	0	0	1	0	0	0	2781	893	31	1	230	1	CCDC12	3	46965117	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		46965117	151057313	7	13068											
OR5H1	26341	broad.mit.edu	37	chr3	97851850	97851850	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagatacagtttttttcGtttgcaatcagtgtaaccac	11	15	7	8	1	1	1	1	0	0	1	2	1	1	1	1	0	4	5	1	0	4	6			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:97851850G>A	uc011bgt.2	+	0	309	c.309G>A	c.(307-309)tcG>tcA	p.S103S		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103S(2)|p.S103L(1)		breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGTTTTTTTCGTTTGCAATCA	0.388													A	97851850	G	A	97851850	2	1	189	1	0	0	0	0	0	0	0	1	11235	1132	40	1		1	OR5H1	3	97851850	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08	50886733	97851850	100170580	8	13069											
SOX14	8403	broad.mit.edu	37	chr3	137484038	137484038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcggcgccctactccCtgctggaccccgcgcagttt	3	8	11	19	5	0	0	0	0	0	0	2	1	1	1	5	3	2	3	5	3	1	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr3:137484038C>G	uc003erm.2	+	0	905	c.412C>G	c.(412-414)Ctg>Gtg	p.L138V		NM_004189	NP_004180	O95416	SOX14_HUMAN	Homo sapiens SRY (sex determining region Y)-box 14 (SOX14), mRNA.	138					negative regulation of transcription from RNA polymerase II promoter|nervous system development|transcription, DNA-dependent	nucleus	sequence-specific DNA binding			large_intestine(2)|lung(12)	14						GCCCTACTCCCTGCTGGACCC	0.721													G	137484038	C	G	137484038	3	3	189	1	0	0	0	0	1	0	0	0	15039	680	24	4	414	4	SOX14	3	137484038	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	39632188	137484038	60538392	9	13070											
UGT2B28	54490	broad.mit.edu	37	chr4	70148376	70148376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgccaaacccctacCtaaggtaaacatactttcgt	14	9	4	14	1	0	0	0	0	0	0	1	0	0	0	5	1	6	1	5	1	7	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:70148376C>A	uc003hej.3	+	1	868	c.866C>A	c.(865-867)cCt>cAt	p.P289H	UGT2B28_uc010ihr.3_Missense_Mutation_p.P289H	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	289					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	AAACCCCTACCTAAGGTAAAC	0.383													A	70148376	C	A	70148376	3	1	189	1	0	0	0	0	1	0	0	0	17062	681	24	4	872	4	UGT2B28	4	70148376	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		70148376	121005900	10	13071											
ENPEP	2028	broad.mit.edu	37	chr4	111398043	111398043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccaggtgcaagtccGgaggtgtttcgagtacaaaa	11	8	15	7	2	0	0	0	0	0	0	2	3	1	2	2	5	2	3	2	5	4	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr4:111398043G>A	uc003iab.4	+	0	815	c.473G>A	c.(472-474)cGg>cAg	p.R158Q		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	158					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GTGCAAGTCCGGAGGTGTTTC	0.627													A	111398043	G	A	111398043	3	1	189	1	0	0	0	0	1	0	0	0	5169	1116	39	1	475	1	ENPEP	4	111398043	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	41249667	111398043	79756233	11	13072											
PCDHB15	56121	broad.mit.edu	37	chr5	140626805	140626805	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgagtgctggtgctggaCgccaacgacaactcgccctt	7	8	13	13	4	0	0	0	0	0	0	1	3	0	1	2	2	5	2	2	2	2	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140626805C>T	uc003lje.3	+	0	1659	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018935	NP_061758	Q9Y5E8	PCDBF_HUMAN	Homo sapiens protocadherin beta 15 (PCDHB15), mRNA.	553	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.D553D(2)		NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.711													T	140626805	C	T	140626805	2	4	189	1	0	0	0	0	0	0	0	1	11616	535	19	1		1	PCDHB15	5	140626805	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		140626805	40288455	12	13073											
PCDHGC5	56103	broad.mit.edu	37	chr5	140740727	140740727	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattcttgatgacaacgAttgtgcacctgaagttattg	12	14	9	6	1	1	4	0	4	1	0	1	5	1	4	1	0	2	2	1	0	4	5	rs150123769	by1000genomes	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140740727A>C	uc003ljs.2	+	0	1025	c.1025A>C	c.(1024-1026)gAt>gCt	p.D342A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc011dar.2_Missense_Mutation_p.D342A	NM_018923	NP_061746	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 2 (PCDHGB2), transcript variant 1, mRNA.	345	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGACAACGATTGTGCACCT	0.448													C	140740727	A	C	140740727	3	2	189	1	0	0	0	0	1	0	0	0	11647	333	12	5		5	PCDHGC5	5	140740727	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08	113922	140740727	40174533	13	13074											
PCDHGC5	56105	broad.mit.edu	37	chr5	140802685	140802685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgaggtgcgtacagcgCgggcactgctggacagagac	8	4	18	11	5	0	1	0	0	0	1	0	4	0	2	0	4	4	3	0	4	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr5:140802685C>T	uc003lkq.2	+	0	2149	c.1891C>T	c.(1891-1893)Cgg>Tgg	p.R631W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lko.1_Missense_Mutation_p.R631W|PCDHGC5_uc003lkp.2_Intron	NM_018914	NP_061737	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 11 (PCDHGA11), transcript variant 1, mRNA.	632	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGTACAGCGCGGGCACTGCT	0.687													T	140802685	C	T	140802685	3	4	189	1	0	0	0	0	1	0	0	0	11647	759	27	1		1	PCDHGC5	5	140802685	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	61958	140802685	40112575	14	13075											
SGK1	6446	broad.mit.edu	37	chr6	134582969	134582969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaagctttataaatatgCattaaaaaattattttttgg	16	17	5	3	0	1	1	1	0	0	1	1	1	1	1	0	1	2	2	0	1	9	9			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr6:134582969C>T	uc003qep.3	-	1	985	c.387G>A	c.(385-387)atG>atA	p.M129I	SGK1_uc003qeo.4_Intron			O00141	SGK1_HUMAN	Homo sapiens serum/glucocorticoid regulated kinase 1 (SGK1), transcript variant 2, mRNA.	0	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TATAAATATGCATTAAAAAAT	0.313													T	134582969	C	T	134582969	3	4	189	1	0	0	0	0	1	0	0	0	14300	725	25	2		2	SGK1	6	134582969	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		134582969	36532098	15	13076											
ABCA13	154664	broad.mit.edu	37	chr7	48412010	48412010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagcggccctttgtaccagCctggtgtacatgatcagctt	8	11	10	12	1	1	1	1	1	0	0	1	1	1	1	3	2	5	3	3	2	2	4			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:48412010C>A	uc003toq.2	+	32	11073	c.11049C>A	c.(11047-11049)agC>agA	p.S3683R	ABCA13_uc010kys.1_Missense_Mutation_p.S757R|ABCA13_uc003tos.1_Missense_Mutation_p.S509R	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3683					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGTACCAGCCTGGTGTACA	0.403													A	48412010	C	A	48412010	3	1	189	1	0	0	0	0	1	0	0	0	31	738	26	4	11008	4	ABCA13	7	48412010	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		48412010	110726653	16	13077											
SEMA3C	10512	broad.mit.edu	37	chr7	80456743	80456743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttaacacttactgTgggatctttgccagccattt	7	20	6	8	0	1	0	0	0	1	0	1	1	1	1	2	1	4	0	2	1	2	8	rs13310887		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:80456743T>G	uc011kgw.2	-	3	458	c.379A>C	c.(379-381)Aca>Cca	p.T127P	SEMA3C_uc003uhj.3_Missense_Mutation_p.T109P|SEMA3C_uc011kgx.1_Intron	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	109	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ACACTTACTGTGGGATCTTTG	0.338													G	80456743	T	G	80456743	3	3	189	1	0	0	0	0	1	0	0	0	14119	1696	59	5	1990	5	SEMA3C	7	80456743	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08	32044733	80456743	78681920	17	13078											
GRM3	2913	broad.mit.edu	37	chr7	86415951	86415951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgcgcagcgacgactcGcgggagctcattgcagccgc	7	7	13	14	6	2	0	2	0	0	0	3	3	2	1	1	1	5	3	1	1	0	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:86415951G>A	uc003uid.3	+	2	1942	c.843G>A	c.(841-843)tcG>tcA	p.S281S	GRM3_uc010lef.3_Silent_p.S279S|GRM3_uc010leg.3_Silent_p.S153S|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	281					synaptic transmission	integral to plasma membrane		p.D280N(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGACGACTCGCGGGAGCTCA	0.662													A	86415951	G	A	86415951	2	1	189	1	0	0	0	0	0	0	0	1	6853	1074	38	1		1	GRM3	7	86415951	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08	5959208	86415951	72722712	18	13079											
EMID2	136227	broad.mit.edu	37	chr7	101063350	101063350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgtgtaccagagctgccGgtggccggggccctgcgcca	4	5	17	15	5	0	1	0	0	0	1	0	1	0	1	5	4	4	2	5	4	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:101063350G>A	uc010lhy.1	+	1	443	c.251G>A	c.(250-252)cGg>cAg	p.R84Q	EMID2_uc003uyo.1_Missense_Mutation_p.R84Q	NM_133457	NP_597714	Q96A83	EMID2_HUMAN	Homo sapiens EMI domain containing 2 (EMID2), mRNA.	84	EMI.					collagen		p.C83S(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	18	Lung NSC(181;0.215)					CAGAGCTGCCGGTGGCCGGGG	0.647													A	101063350	G	A	101063350	3	1	189	1	0	0	0	0	1	0	0	0	5133	1116	39	1	257	1	EMID2	7	101063350	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	14647399	101063350	58075313	19	13080											
FBXL13	222235	broad.mit.edu	37	chr7	102604030	102604030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaaccacgaaaattcaaaCgcagcacatttaaacgccac	18	5	5	13	3	1	0	1	0	0	0	1	2	1	0	2	0	4	2	2	0	6	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:102604030C>T	uc003vaq.2	-	7	1101	c.674G>A	c.(673-675)cGt>cAt	p.R225H	FBXL13_uc010liq.1_Missense_Mutation_p.R40H|FBXL13_uc010lir.1_Missense_Mutation_p.R225H|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Missense_Mutation_p.R225H|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	225										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						AAAATTCAAACGCAGCACATT	0.328													T	102604030	C	T	102604030	3	4	189	1	0	0	0	0	1	0	0	0	5758	536	19	1	1585	1	FBXL13	7	102604030	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	1540680	102604030	56534633	20	13081											
RELN	5649	broad.mit.edu	37	chr7	103368566	103368566	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatacttaccagttctcGtgggccatatggttcacaga	10	11	9	11	1	2	1	1	0	1	1	3	1	2	1	2	2	2	3	2	2	3	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr7:103368566G>A	uc022ajr.1	-	6	905	c.745C>T	c.(745-747)Cga>Tga	p.R249*	RELN_uc022ajq.1_Nonsense_Mutation_p.R249*|RELN_uc010liz.3_Nonsense_Mutation_p.R249*	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	249					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.R249L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACCAGTTCTCGTGGGCCATAT	0.408													A	103368566	G	A	103368566	4	1	189	1	0	0	0	0	0	1	0	0	13308	1153	40	1	9873	1	RELN	7	103368566	Nonsense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	764536	103368566	55770097	21	13082											
CSMD1	64478	broad.mit.edu	37	chr8	3216774	3216774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcccaggaagcaggaaaaCgtcagagagtctcccacacc	14	5	9	13	1	2	1	1	0	1	1	4	4	3	3	3	2	2	1	3	2	4	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr8:3216774C>T	uc022aqr.1	-	20	3594	c.3204G>A	c.(3202-3204)acG>acA	p.T1068T	CSMD1_uc011kwj.2_Silent_p.T461T|CSMD1_uc003wqe.3_Silent_p.T225T	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN	Homo sapiens CUB and Sushi multiple domains 1 (CSMD1), mRNA.	1069	Sushi 6.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AGCAGGAAAACGTCAGAGAGT	0.552													T	3216774	C	T	3216774	2	4	189	1	0	0	0	0	0	0	0	1	3977	523	19	1		1	CSMD1	8	3216774	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		3216774	143147248	22	13083											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																										TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:12702411_12702414delACAA	uc003zkv.4	+	4	1232_1235	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.T352fs		NM_000550	NP_000541	P17643	TYRP1_HUMAN	Homo sapiens tyrosinase-related protein 1 (TYRP1), mRNA.	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(4)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				-	12702414	ACAA	-	12702411	7	5	189	1	0	1	0	1	0	0	0	0	16918	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-27-1837-01A-01D-1494-08		12702411	128511020	23	13084											
C9orf80	58493	broad.mit.edu	37	chr9	115451883	115451883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccttattaagagagggtCtcgagagtgcaatgctaaaa	14	10	11	6	1	1	2	0	0	1	2	3	4	2	2	1	1	2	2	1	1	5	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr9:115451883C>A	uc004bgg.3	-	3	320	c.143G>T	c.(142-144)aGa>aTa	p.R48I	C9orf80_uc010muk.3_Intron	NM_021218	NP_067041	Q9NRY2	SOSSC_HUMAN	Homo sapiens chromosome 9 open reading frame 80 (C9orf80), mRNA.	48					DNA repair|response to ionizing radiation	SOSS complex	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	4						AAGAGAGGGTCTCGAGAGTGC	0.428													A	115451883	C	A	115451883	3	1	189	1	0	0	0	0	1	0	0	0	2524	913	32	4	179	4	C9orf80	9	115451883	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	102749472	115451883	25761548	24	13085											
MYO3A	53904	broad.mit.edu	37	chr10	26482157	26482157	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtaaaggagaggagccaAaaatattgagacccccaaga	17	6	10	8	0	1	3	0	1	1	3	1	6	1	4	3	2	1	1	3	2	6	3	rs34204285	by1000genomes	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:26482157A>G	uc001isn.2	+	31	4822	c.4462A>G	c.(4462-4464)Aaa>Gaa	p.K1488E	MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1488			K -> E (in dbSNP:rs34204285).		protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGAGGAGCCAAAAATATTGAG	0.358													G	26482157	A	G	26482157	3	3	189	1	0	0	0	0	1	0	0	0	10152	15	1	3	4580	3	MYO3A	10	26482157	Missense_Mutation	SNP	A	TCGA-27-1837-01A-01D-1494-08		26482157	109052590	25	13086											
PTEN	5728	broad.mit.edu	37	chr10	89720679	89720679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcacttttgggtaaataCattcttcataccaggaccag	11	14	7	9	0	3	0	2	0	1	0	3	1	3	1	2	2	2	2	2	2	4	8			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr10:89720679C>T	uc001kfb.3	+	7	1862	c.830C>T	c.(829-831)aCa>aTa	p.T277I	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	277	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T277I(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.N276fs*15(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.T277fs*13(1)|p.N276K(1)|p.T277A(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGGTAAATACATTCTTCATA	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720679	C	T	89720679	3	4	189	1	0	0	0	0	1	0	0	0	12823	478	17	2	860	2	PTEN	10	89720679	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	63238522	89720679	45814068	26	13087											
MUC5B	727897	broad.mit.edu	37	chr11	1155150	1155150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtctccgcaggggtccCgctccgtggggcgactgtct	2	9	14	16	4	2	0	0	0	2	0	5	1	4	0	4	4	0	2	4	4	0	0			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:1155150C>T	uc021qbr.1	+	2	205	c.158C>T	c.(157-159)cCg>cTg	p.P53L				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	58					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCAGGGGTCCCGCTCCGTGGG	0.667													T	1155150	C	T	1155150	3	4	189	1	0	0	0	0	1	0	0	0	10055	667	23	1		1	MUC5B	11	1155150	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		1155150	133851366	27	13088											
OR4D5	219875	broad.mit.edu	37	chr11	123811011	123811011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctccgaagccactcaCgggagggccgcagcaaggcc	9	4	13	15	3	2	0	2	0	0	0	3	2	3	1	4	3	3	3	4	3	2	0			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:123811011C>T	uc001pzk.1	+	0	688	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R230R(1)		autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGCCACTCACGGGAGGGCCG	0.522													T	123811011	C	T	123811011	3	4	189	1	0	0	0	0	1	0	0	0	11133	527	19	1	690	1	OR4D5	11	123811011	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	122655861	123811011	11195505	28	13089											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343595	130343595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaagagctgcggccGgggatttcagaggcgctcac	7	7	14	13	3	2	2	2	0	0	2	3	3	3	3	2	4	3	3	2	4	1	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr11:130343595G>A	uc010scd.2	+	7	2732	c.2732G>A	c.(2731-2733)cGg>cAg	p.R911Q		NM_139055	NP_620686	Q8TE58	ATS15_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 15 (ADAMTS15), mRNA.	911	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AGCTGCGGCCGGGGATTTCAG	0.682													A	130343595	G	A	130343595	3	1	189	1	0	0	0	0	1	0	0	0	260	1116	39	1	2762	1	ADAMTS15	11	130343595	Missense_Mutation	SNP	G	TCGA-27-1837-01A-01D-1494-08	6532584	130343595	4662921	29	13090											
CLSTN3	9746	broad.mit.edu	37	chr12	7302219	7302219	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgagcgggaaagcctgctCctggacacaacctctctgca	9	6	10	16	2	1	0	0	0	1	0	3	3	2	2	4	2	5	2	4	2	2	0			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7302219C>T	uc001qss.3	+	12	2749	c.2211C>T	c.(2209-2211)ctC>ctT	p.L737L	CLSTN3_uc001qsr.3_Silent_p.L725L	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	725					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						AAAGCCTGCTCCTGGACACAA	0.582													T	7302219	C	T	7302219	2	4	189	1	0	0	0	0	0	0	0	1	3594	842	30	2		2	CLSTN3	12	7302219	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		7302219	126549676	30	13091											
ACSM4	341392	broad.mit.edu	37	chr12	7477186	7477186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtagtccagatcaaatcCgcggagaggtagatgaatgt	13	9	12	7	2	2	4	2	1	0	3	4	5	4	4	2	2	0	2	2	2	4	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:7477186C>T	uc001qsx.1	+	10	1528	c.1528C>T	c.(1528-1530)Cgc>Tgc	p.R510C		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	510					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.R510R(1)		endometrium(6)|kidney(1)|lung(14)	21						AGATCAAATCCGCGGAGAGGT	0.438													T	7477186	C	T	7477186	3	4	189	1	0	0	0	0	1	0	0	0	186	652	23	1	1570	1	ACSM4	12	7477186	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	174967	7477186	126374709	31	13092											
TUBA1A	7846	broad.mit.edu	37	chr12	49578914	49578914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaactcaccttcctccatcCcctccccaacgtaccagtga	11	8	3	19	1	1	1	1	1	0	0	5	1	5	1	8	0	3	1	8	0	4	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:49578914C>T	uc009zlf.3	-	3	1507	c.1235G>A	c.(1234-1236)gGg>gAg	p.G412E	TUBA1A_uc001rtp.3_Missense_Mutation_p.G412E	NM_006009	NP_006000	Q71U36	TBA1A_HUMAN	Homo sapiens tubulin, alpha 1a (TUBA1A), mRNA.	412					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TTCCTCCATCCCCTCCCCAAC	0.547													T	49578914	C	T	49578914	3	4	189	1	0	0	0	0	1	0	0	0	16845	623	22	2	124	2	TUBA1A	12	49578914	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	42101728	49578914	84272981	32	13093											
GLTP	51228	broad.mit.edu	37	chr12	110290512	110290512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagcgctttcaggaagtCagacttatagggtgctgcgt	9	10	15	7	2	2	2	2	0	0	2	2	4	2	3	0	3	3	2	0	3	3	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr12:110290512C>T	uc001tpm.3	-	4	592	c.478G>A	c.(478-480)Gac>Aac	p.D160N		NM_016433	NP_057517	Q9NZD2	GLTP_HUMAN	Homo sapiens glycolipid transfer protein (GLTP), mRNA.	160						cytoplasm	glycolipid binding|glycolipid transporter activity			endometrium(1)|kidney(1)|lung(1)|upper_aerodigestive_tract(1)	4		Lung NSC(355;2.38e-06)|Breast(359;0.00354)|Myeloproliferative disorder(1001;0.0122)		BRCA - Breast invasive adenocarcinoma(302;0.0025)		TTCAGGAAGTCAGACTTATAG	0.587											OREG0022112	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	110290512	C	T	110290512	3	4	189	1	0	0	0	0	1	0	0	0	6527	826	29	2	155	2	GLTP	12	110290512	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	60711598	110290512	23561383	33	13094											
IQCH	64799	broad.mit.edu	37	chr15	67664811	67664811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatggaaattcggaggcCgccatgaagatccaagccac	14	5	11	11	2	0	3	0	1	0	2	2	5	1	5	4	3	1	0	4	3	4	1	rs111681102	byFrequency	TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr15:67664811C>T	uc002aqo.2	+	8	1213	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	IQCH_uc010ujv.2_Silent_p.A191A|IQCH_uc002aqn.2_Silent_p.A199A|IQCH_uc002aqp.2_Silent_p.A124A|IQCH_uc002aqq.2_Silent_p.A120A	NM_001031715	NP_001026885	Q86VS3	IQCH_HUMAN	Homo sapiens IQ motif containing H (IQCH), transcript variant 1, mRNA.	372	IQ.									NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		ATTCGGAGGCCGCCATGAAGA	0.468													T	67664811	C	T	67664811	2	4	189	1	0	0	0	0	0	0	0	1	7869	639	23	1		1	IQCH	15	67664811	Silent	SNP	C	TCGA-27-1837-01A-01D-1494-08		67664811	34866581	34	13095											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251329	25251329	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtgtgtattctccgatgTtctcgaaatctcgtacagtt	8	15	8	10	3	3	0	0	0	3	0	6	2	3	0	2	0	1	4	2	0	3	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:25251329T>C	uc002dod.4	-	6	3119	c.2712A>G	c.(2710-2712)gaA>gaG	p.E904E	ZKSCAN2_uc010vcl.2_Silent_p.E700E	NM_001012981	NP_001012999	Q63HK3	ZKSC2_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 2 (ZKSCAN2), mRNA.	904					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTCTCCGATGTTCTCGAAATC	0.458													C	25251329	T	C	25251329	2	2	189	1	0	0	0	0	0	0	0	1	17788	1722	60	3		3	ZKSCAN2	16	25251329	Silent	SNP	T	TCGA-27-1837-01A-01D-1494-08		25251329	65103424	35	13096											
ZNF48	197407	broad.mit.edu	37	chr16	30409511	30409511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggaaaggagtttgccCggggatccgacctggtgaag	8	9	17	7	2	0	1	0	1	0	0	1	5	1	4	3	5	1	1	3	5	2	1	rs141362652		TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr16:30409511C>T	uc002dya.2	+	1	1316	c.940C>T	c.(940-942)Cgg>Tgg	p.R314W	ZNF48_uc021tgi.1_Missense_Mutation_p.R314W|ZNF48_uc021tgj.1_Missense_Mutation_p.R191W|ZNF48_uc021tgk.1_Missense_Mutation_p.R314W	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGAGTTTGCCCGGGGATCCGA	0.622													T	30409511	C	T	30409511	3	4	189	1	0	0	0	0	1	0	0	0	18035	643	23	1	946	1	ZNF48	16	30409511	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	5158182	30409511	59945242	36	13097											
WDR81	124997	broad.mit.edu	37	chr17	1634533	1634533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccgtgctcagcttcCtcacctccctcgtcacgggg	3	10	10	18	3	3	0	3	0	0	0	6	0	5	0	4	2	4	3	4	2	0	1			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:1634533C>G	uc002ftj.2	+	3	4267	c.4138C>G	c.(4138-4140)Ctc>Gtc	p.L1380V	WDR81_uc002fth.2_Missense_Mutation_p.L329V|WDR81_uc010vqp.1_Missense_Mutation_p.L177V|WDR81_uc002fti.2_Missense_Mutation_p.L153V|WDR81_uc010vqq.1_Intron	NM_001163809	NP_001157281	B3KXU1	B3KXU1_HUMAN	Homo sapiens WD repeat domain 81 (WDR81), transcript variant 1, mRNA.	153										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTCAGCTTCCTCACCTCCCT	0.647													G	1634533	C	G	1634533	3	3	189	1	0	0	0	0	1	0	0	0	17432	681	24	4	4214	4	WDR81	17	1634533	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		1634533	79560677	37	13098											
NCOR1	9611	broad.mit.edu	37	chr17	16062148	16062148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaggggacacgggcttctCaggctcaggaggtttagctg	8	8	17	8	1	2	0	2	0	1	0	3	3	2	3	0	7	1	4	0	7	1	3			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:16062148C>T	uc002gpo.3	-	5	927	c.658G>A	c.(658-660)Gag>Aag	p.E220K	NCOR1_uc002gpn.3_Missense_Mutation_p.E220K|NCOR1_uc002gpp.1_Missense_Mutation_p.E111K|NCOR1_uc002gpr.3_Missense_Mutation_p.E111K|NCOR1_uc002gps.2_Missense_Mutation_p.E220K|NCOR1_uc010cpb.2_Missense_Mutation_p.E220K|NCOR1_uc010coz.2_Missense_Mutation_p.E36K|NCOR1_uc010cpa.2_Missense_Mutation_p.E220K	NM_006311	NP_006302	O75376	NCOR1_HUMAN	Homo sapiens nuclear receptor corepressor 1 (NCOR1), transcript variant 1, mRNA.	220	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACGGGCTTCTCAGGCTCAGGA	0.488													T	16062148	C	T	16062148	3	4	189	1	0	0	0	0	1	0	0	0	10311	835	29	2	6828	2	NCOR1	17	16062148	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	14427615	16062148	65133062	38	13099											
SLC4A1	6521	broad.mit.edu	37	chr17	42335476	42335476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaataggggtagcggcgcCggatatcacgcaccaggccc	9	5	15	12	4	1	0	1	0	0	0	1	1	1	1	3	6	1	3	3	6	4	4			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:42335476C>T	uc002igf.4	-	10	1309	c.1160G>A	c.(1159-1161)cGg>cAg	p.R387Q	SLC4A1_uc021tyc.1_Intron	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	387					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.R387W(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GTAGCGGCGCCGGATATCACG	0.587													T	42335476	C	T	42335476	3	4	189	1	0	0	0	0	1	0	0	0	14744	652	23	1	1615	1	SLC4A1	17	42335476	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08	26273328	42335476	38859734	39	13100											
ABCA5	23461	broad.mit.edu	37	chr17	67290837	67290837	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacccttctttctgtatgtcTtctgaataccactaattctg	8	17	4	12	0	5	1	0	1	5	0	5	1	5	1	2	0	1	1	2	0	4	7			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr17:67290837T>G	uc002jif.2	-	9	2672	c.1454A>C	c.(1453-1455)aAg>aCg	p.K485T	ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.K485T|ABCA5_uc002jih.2_Missense_Mutation_p.K485T|ABCA5_uc010dfe.2_Missense_Mutation_p.K485T	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	485	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTGTATGTCTTCTGAATACC	0.264													G	67290837	T	G	67290837	3	3	189	1	0	0	0	0	1	0	0	0	35	1609	56	5	3590	5	ABCA5	17	67290837	Missense_Mutation	SNP	T	TCGA-27-1837-01A-01D-1494-08	24955361	67290837	13904373	40	13101											
CLDN14	23562	broad.mit.edu	37	chr21	37833394	37833394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgcagtggtcgtggtGgccctgggcggggcctggta	2	11	20	8	2	0	0	0	0	0	0	1	0	0	0	2	7	1	3	2	7	1	2			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr21:37833394G>A	uc021wja.1	-	0	600	c.600C>T	c.(598-600)gcC>gcT	p.A200A	CLDN14_uc002yvn.1_Silent_p.A200A|CLDN14_uc002yvo.1_Silent_p.A200A|CLDN14_uc002yvk.1_Silent_p.A200A|CLDN14_uc002yvl.1_Silent_p.A200A|CLDN14_uc002yvm.1_Silent_p.A200A	NM_144492	NP_652763	O95500	CLD14_HUMAN	Homo sapiens claudin 14 (CLDN14), transcript variant 1, mRNA.	200					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGGTCGTGGTGGCCCTGGGCG	0.652													A	37833394	G	A	37833394	2	1	189	1	0	0	0	0	0	0	0	1	3506	1335	47	2		2	CLDN14	21	37833394	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08		37833394	10296501	41	13102											
RFPL1	5988	broad.mit.edu	37	chr22	29834818	29834818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcacaactaacaggctttCacctcacggaaattttcttc	11	13	5	12	1	4	0	3	0	1	0	5	1	4	1	1	2	2	1	1	2	3	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chr22:29834818C>T	uc003afn.3	+	0	247	c.38C>T	c.(37-39)tCa>tTa	p.S13L	RFPL1-AS1_uc003afm.2_Non-coding_Transcript	NM_021026	NP_066306	O75677	RFPL1_HUMAN	Homo sapiens ret finger protein-like 1 (RFPL1), mRNA.	13							zinc ion binding			endometrium(3)|large_intestine(1)|lung(6)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	16						AACAGGCTTTCACCTCACGGA	0.463													T	29834818	C	T	29834818	3	4	189	1	0	0	0	0	1	0	0	0	13341	838	29	2	40	2	RFPL1	22	29834818	Missense_Mutation	SNP	C	TCGA-27-1837-01A-01D-1494-08		29834818	21469748	42	13103											
SPIN2B	474343	broad.mit.edu	37	chrX	57146697	57146697	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatggtatttgcaaggttGgcatcactaatgtgagatga	12	14	11	4	0	1	2	1	2	0	1	1	3	1	2	0	3	1	4	0	3	4	5			TCGA-27-1837-01A-01D-1494-08	TCGA-27-1837-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61ad1d55-21a9-49c4-925b-54a24703afda	2105c6c4-df9f-4762-b894-7fc96cbe7559	g.chrX:57146697G>A	uc004duy.3	-	1	625	c.366C>T	c.(364-366)gcC>gcT	p.A122A	SPIN2B_uc004duz.3_Silent_p.A122A|SPIN2B_uc004dva.3_Silent_p.A122A|SPIN2B_uc022bxw.1_Silent_p.A122A|SPIN2B_uc011mor.1_Non-coding_Transcript	NM_001006682	NP_001006684	Q9BPZ2	SPI2B_HUMAN	Homo sapiens spindlin family, member 2B (SPIN2B), transcript variant 2, mRNA.	122					apoptosis|cell cycle|gamete generation	nucleus				endometrium(3)|large_intestine(1)|skin(1)	5						TTGCAAGGTTGGCATCACTAA	0.433													A	57146697	G	A	57146697	2	1	189	1	0	0	0	0	0	0	0	1	15150	1335	47	2		2	SPIN2B	23	57146697	Silent	SNP	G	TCGA-27-1837-01A-01D-1494-08		57146697	98123863	43	13104											
EPHA8	2046	broad.mit.edu	37	chr1	22927229	22927229	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcggccagcgacgtgTggagcttcggcgtggtcatg	4	10	15	12	5	2	0	1	0	1	0	5	2	2	1	2	4	2	1	2	4	0	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:22927229T>C	uc001bfx.1	+	13	2589	c.2464T>C	c.(2464-2466)Tgg>Cgg	p.W822R		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	822	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGCGACGTGTGGAGCTTCGG	0.657													C	22927229	T	C	22927229	3	2	190	1	0	0	0	0	1	0	0	0	5214	1696	59	3	2691	3	EPHA8	1	22927229	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		22927229	226323392	1	13105											
ABCD3	5825	broad.mit.edu	37	chr1	94965170	94965170	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaaagcaaagaatggcGgtaagtatactgtgaagaag	18	6	14	3	1	0	4	0	1	0	3	0	5	0	4	0	3	2	3	0	3	9	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:94965170G>A	uc010oto.2	+	21	1914	c.1812_splice	c.e21+1	p.A604_splice	ABCD3_uc001dqn.4_Splice_Site_p.A580_splice|ABCD3_uc010otp.2_Splice_Site_p.A507_splice|ABCD3_uc009wdr.3_Splice_Site_p.A470_splice|ABCD3_uc001dqo.4_Splice_Site_p.A268_splice	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	580	ABC transporter.				peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		AAAGAATGGCGGTAAGTATAC	0.418													A	94965170	G	A	94965170	2	1	190	1	0	0	0	0	0	0	0	1	62	1130	39	1		1	ABCD3	1	94965170	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	72037941	94965170	154285451	2	13106											
FCRL5	83416	broad.mit.edu	37	chr1	157490328	157490328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagggccacttctgttcGcggtcagccctgagggggag	8	7	15	11	2	2	1	1	1	1	0	3	2	2	2	2	4	1	1	2	4	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:157490328G>A	uc009wsm.3	-	11	2683	c.2525C>T	c.(2524-2526)gCg>gTg	p.A842V	FCRL5_uc001fqu.3_Missense_Mutation_p.A842V	NM_001195388	NP_001182317	Q96RD9	FCRL5_HUMAN	Homo sapiens Fc receptor-like 5 (FCRL5), transcript variant 2, mRNA.	842						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				ACTTCTGTTCGCGGTCAGCCC	0.657													A	157490328	G	A	157490328	3	1	190	1	0	0	0	0	1	0	0	0	5847	1087	38	1	432	1	FCRL5	1	157490328	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	62525158	157490328	91760293	3	13107											
SPTA1	6708	broad.mit.edu	37	chr1	158615013	158615013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtctaggatcttcttgcGtttttcccaagccttctcca	5	16	7	13	1	4	0	0	0	4	0	6	1	5	1	3	2	2	1	3	2	2	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:158615013G>A	uc001fst.1	-	28	4358	c.4159C>T	c.(4159-4161)Cgc>Tgc	p.R1387C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1387					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCTTCTTGCGTTTTTCCCAA	0.433													A	158615013	G	A	158615013	3	1	190	1	0	0	0	0	1	0	0	0	15212	1145	40	1	3196	1	SPTA1	1	158615013	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1124685	158615013	90635608	4	13108											
CFH	10877	broad.mit.edu	37	chr1	196887346	196887346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctgctttcagatccatGtataataactgaagaaaaca	15	14	5	7	0	2	3	1	1	1	2	3	3	3	3	1	0	3	2	1	0	6	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:196887346G>T	uc001gtp.3	+	9	1684	c.1547G>T	c.(1546-1548)tGt>tTt	p.C516F	CFH_uc021pgt.1_Missense_Mutation_p.C139F|CFH_uc009wyy.3_Missense_Mutation_p.C515F|CFH_uc001gto.3_Missense_Mutation_p.C269F	NM_001201550	NP_001188479	P08603	CFAH_HUMAN	Homo sapiens complement factor H-related 4 (CFHR4), transcript variant 1, mRNA.	868	Sushi 9.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGATCCATGTATAATAACT	0.264													T	196887346	G	T	196887346	3	4	190	1	0	0	0	0	1	0	0	0	3313	1377	48	4		4	CFH	1	196887346	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	38272333	196887346	52363275	5	13109											
OR2AK2	391191	broad.mit.edu	37	chr1	248129572	248129572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaataaggaagtgacGggggcagtgaggagactgtt	13	7	17	4	1	0	4	0	3	0	2	0	7	0	5	0	4	0	2	0	4	3	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr1:248129572G>A	uc010pzd.2	+	0	939	c.939G>A	c.(937-939)acG>acA	p.T313T	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	313					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T313T(2)|p.T313S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGGAAGTGACGGGGGCAGTGA	0.433													A	248129572	G	A	248129572	2	1	190	1	0	0	0	0	0	0	0	1	11062	1103	39	1		1	OR2AK2	1	248129572	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	51242226	248129572	1121049	6	13110											
ALLC	55821	broad.mit.edu	37	chr2	3727515	3727515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatccggggcttcgacGtggacgtttcttacttcacg	6	12	12	11	5	3	0	2	0	1	0	5	3	4	1	1	3	1	2	1	3	1	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:3727515G>A	uc010ewt.3	+	4	390	c.229G>A	c.(229-231)Gtg>Atg	p.V77M		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	96							allantoicase activity	p.D76N(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGGCTTCGACGTGGACGTTTC	0.547										HNSCC(21;0.051)			A	3727515	G	A	3727515	3	1	190	1	0	0	0	0	1	0	0	0	534	1145	40	1	243	1	ALLC	2	3727515	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		3727515	239471858	7	13111											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696534	17696534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattgggtacagttttcCatttaaataaactttggtga	12	17	7	5	0	0	1	0	1	0	0	1	1	1	1	1	2	2	2	1	2	6	9			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:17696534C>A	uc002rcl.1	-	0	3173	c.3149G>T	c.(3148-3150)tGg>tTg	p.W1050L	RAD51AP2_uc010exn.1_Missense_Mutation_p.W1041L	NM_001099218	NP_001092688	Q09MP3	R51A2_HUMAN	Homo sapiens RAD51 associated protein 2 (RAD51AP2), mRNA.	1050										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TACAGTTTTCCATTTAAATAA	0.368													A	17696534	C	A	17696534	3	1	190	1	0	0	0	0	1	0	0	0	13075	595	21	4	342	4	RAD51AP2	2	17696534	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	13969019	17696534	225502839	8	13112											
MSH6	2956	broad.mit.edu	37	chr2	48026087	48026087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggaaggaaacgccctcagCcaccaaacaagcaactagca	17	3	8	13	1	1	0	1	0	0	0	1	2	1	2	3	2	6	2	3	2	7	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:48026087C>T	uc002rwd.4	+	3	1117	c.965C>T	c.(964-966)gCc>gTc	p.A322V	MSH6_uc002rwc.2_Missense_Mutation_p.A322V|MSH6_uc010fbj.3_Missense_Mutation_p.A20V|MSH6_uc010yoj.2_Missense_Mutation_p.A20V	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	322					determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ACGCCCTCAGCCACCAAACAA	0.473			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				T	48026087	C	T	48026087	3	4	190	1	0	0	0	0	1	0	0	0	9950	739	26	2	979	2	MSH6	2	48026087	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	30329553	48026087	195173286	9	13113											
TSGA10	80705	broad.mit.edu	37	chr2	99634812	99634812	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agttcttgtacggccctctcCctaaagcaaaatagtgatgc	11	11	8	11	1	2	1	0	1	2	0	3	1	2	1	2	1	3	3	2	1	6	5			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:99634812C>T	uc002szg.4	-	18	2551	c.1923_splice	c.e18-1	p.R641_splice	TSGA10_uc002szh.4_Splice_Site_p.R641_splice|TSGA10_uc002szi.4_Splice_Site_p.R641_splice|TSGA10_uc010fin.1_Splice_Site_p.R641_splice	NM_182911	NP_878915	Q9BZW7	TSG10_HUMAN	Homo sapiens testis specific, 10 (TSGA10), transcript variant 2, mRNA.	641	Interaction with HIF1A (By similarity).				spermatogenesis	cytoplasm|nuclear membrane				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	34						CGGCCCTCTCCCTAAAGCAAA	0.323													T	99634812	C	T	99634812	2	4	190	1	0	0	0	0	0	0	0	1	16718	637	22	2		2	TSGA10	2	99634812	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	51608725	99634812	143564561	10	13114											
IL1R1	3554	broad.mit.edu	37	chr2	102789175	102789175	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcaaacaaaagaaggAgtaccctcatcacagtgctt	15	8	7	11	0	2	1	2	0	0	1	3	2	3	2	2	1	4	3	2	1	5	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:102789175A>T	uc002tbq.3	+	8	1186	c.868A>T	c.(868-870)Agt>Tgt	p.S290C	IL1R1_uc010fix.3_Missense_Mutation_p.S290C|IL1R1_uc002tbr.3_Missense_Mutation_p.S290C	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	290	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	CAAAAGAAGGAGTACCCTCAT	0.348													T	102789175	A	T	102789175	3	4	190	1	0	0	0	0	1	0	0	0	7716	304	11	5	894	5	IL1R1	2	102789175	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	3154363	102789175	140410198	11	13115											
SLC9A4	389015	broad.mit.edu	37	chr2	103141556	103141556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagattctgatccgccGccagaacaccttaagggaga	14	7	10	10	2	1	4	0	1	1	3	2	6	2	4	4	1	1	0	4	1	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:103141556G>A	uc002tbz.4	+	9	2349	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	631					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						CTGATCCGCCGCCAGAACACC	0.507													A	103141556	G	A	103141556	3	1	190	1	0	0	0	0	1	0	0	0	14810	1087	38	1	1930	1	SLC9A4	2	103141556	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	352381	103141556	140057817	12	13116											
XIRP2	129446	broad.mit.edu	37	chr2	168103543	168103543	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttaaagaatcaagccatCgatggaaagaatctaaacag	19	7	7	8	1	2	2	1	0	1	2	3	4	2	3	1	1	2	0	1	1	8	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:168103543C>T	uc002udx.3	+	8	5730	c.5641C>T	c.(5641-5643)Cga>Tga	p.R1881*	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Nonsense_Mutation_p.R1706*|XIRP2_uc010fpq.3_Nonsense_Mutation_p.R1659*|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	1706					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATCAAGCCATCGATGGAAAGA	0.378													T	168103543	C	T	168103543	4	4	190	1	0	0	0	0	0	1	0	0	17532	876	31	1	5671	1	XIRP2	2	168103543	Nonsense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	64961987	168103543	75095830	13	13117											
TTN	7273	broad.mit.edu	37	chr2	179431526	179431526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatcctgtcactcttagacGcaaatctgtaatgcggcgtt	10	13	8	10	3	3	1	1	0	2	1	4	1	4	1	1	1	1	3	1	1	4	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr2:179431526G>A	uc021vsy.1	-	274	71854	c.71629C>T	c.(71629-71631)Cgt>Tgt	p.R23877C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R17572C|TTN_uc021vta.1_Missense_Mutation_p.R17505C|TTN_uc021vtb.1_Missense_Mutation_p.R17380C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	24804	Ig-like 120.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTCTTAGACGCAAATCTGTA	0.408													A	179431526	G	A	179431526	3	1	190	1	0	0	0	0	1	0	0	0	16837	1087	38	1	28794	1	TTN	2	179431526	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11327983	179431526	63767847	14	13118											
TRIM71	131405	broad.mit.edu	37	chr3	32932739	32932739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgcatccagatcttcacGttcgagggccagttcctcct	7	11	8	15	3	2	1	1	0	1	1	7	2	5	1	4	1	0	3	4	1	0	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:32932739G>A	uc003cff.3	+	3	2106	c.2043G>A	c.(2041-2043)acG>acA	p.T681T		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	681					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AGATCTTCACGTTCGAGGGCC	0.582													A	32932739	G	A	32932739	2	1	190	1	0	0	0	0	0	0	0	1	16645	1132	40	1		1	TRIM71	3	32932739	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08		32932739	165089691	15	13119											
AMIGO3	386724	broad.mit.edu	37	chr3	49756785	49756785	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaggtcggcagcgcagatAcatttgtaggggcagttgtg	9	9	16	7	2	0	1	0	0	0	1	1	1	0	1	0	4	3	6	0	4	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:49756785A>G	uc003cxj.3	-	0	454	c.114T>C	c.(112-114)tgT>tgC	p.C38C	RNF123_uc003cxh.3_Intron|RNF123_uc003cxi.3_Intron	NM_198722	NP_942015	Q86WK7	AMGO3_HUMAN	Homo sapiens adhesion molecule with Ig-like domain 3 (AMIGO3), mRNA.	38	LRRNT.				heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGCGCAGATACATTTGTAGG	0.647											OREG0015572	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	49756785	A	G	49756785	2	3	190	1	0	0	0	0	0	0	0	1	577	389	14	3		3	AMIGO3	3	49756785	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	16824046	49756785	148265645	16	13120											
HTR1F	3355	broad.mit.edu	37	chr3	88040099	88040099	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttgttcccttgcagTcacagattttcttgtggctg	6	19	8	8	0	2	1	1	0	1	1	3	1	3	1	1	1	1	3	1	1	1	8			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:88040099T>A	uc003dqr.2	+	1	358	c.200T>A	c.(199-201)gTc>gAc	p.V67D	HTR1F_uc021xbd.1_Missense_Mutation_p.V67D	NM_000866	NP_000857	P30939	5HT1F_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 1F (HTR1F), mRNA.	67					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	TCCCTTGCAGTCACAGATTTT	0.463													A	88040099	T	A	88040099	3	1	190	1	0	0	0	0	1	0	0	0	7498	1667	58	5	202	5	HTR1F	3	88040099	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	38283314	88040099	109982331	17	13121											
FAM55C	91775	broad.mit.edu	37	chr3	101520152	101520152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtttcctcccaggtgacagGaattagccgaaatccctact	10	11	8	12	1	0	1	0	1	0	0	3	3	3	2	4	2	2	1	4	2	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:101520152G>A	uc003dvn.3	+	4	804	c.167G>A	c.(166-168)gGa>gAa	p.G56E	FAM55C_uc010hpn.3_Missense_Mutation_p.G56E	NM_145037	NP_659474	Q969Y0	FA55C_HUMAN	Homo sapiens family with sequence similarity 55, member C (FAM55C), transcript variant 2, mRNA.	56						extracellular region				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	32						CAGGTGACAGGAATTAGCCGA	0.522													A	101520152	G	A	101520152	3	1	190	1	0	0	0	0	1	0	0	0	5636	1174	41	2	173	2	FAM55C	3	101520152	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	13480053	101520152	96502278	18	13122											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr3:178936091G>A	uc003fjk.3	+	9	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1952)|p.E545A(96)|p.E545G(79)|p.E545Q(39)|p.E545D(23)|p.E545?(19)|p.E545V(6)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	190	1	0	0	0	0	1	0	0	0	11990	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	77415939	178936091	19086339	19	13123											
GABRB1	2560	broad.mit.edu	37	chr4	47322182	47322182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgatggatcttcgaaGatatccattggatgagcaga	13	12	11	5	1	1	4	0	2	1	2	3	7	2	6	1	2	1	2	1	2	3	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:47322182G>T	uc003gxh.3	+	4	874	c.500G>T	c.(499-501)aGa>aTa	p.R167I	GABRB1_uc011bze.2_Missense_Mutation_p.R97I	NM_000812	NP_000803	P18505	GBRB1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 1 (GABRB1), mRNA.	167					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GATCTTCGAAGATATCCATTG	0.418													T	47322182	G	T	47322182	3	4	190	1	0	0	0	0	1	0	0	0	6218	942	33	4	518	4	GABRB1	4	47322182	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		47322182	143832094	20	13124											
HPSE	10855	broad.mit.edu	37	chr4	84216623	84216623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggtttgatcatccacCatctttagagttagaccatt	11	13	8	9	0	2	3	1	1	1	2	3	3	3	3	3	2	0	3	3	2	3	5			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:84216623C>G	uc003hoj.4	-	11	1605	c.1506G>C	c.(1504-1506)atG>atC	p.M502I	HPSE_uc003hoi.3_Missense_Mutation_p.M444I|HPSE_uc011ccq.2_Non-coding_Transcript|HPSE_uc011ccr.2_Non-coding_Transcript|HPSE_uc011ccs.2_Missense_Mutation_p.M245I|HPSE_uc003hok.4_Missense_Mutation_p.M502I|HPSE_uc011cct.2_Missense_Mutation_p.M428I	NM_001098540	NP_006656	Q9Y251	HPSE_HUMAN	Homo sapiens heparanase (HPSE), transcript variant 2, mRNA.	502					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	GATCATCCACCATCTTTAGAG	0.443													G	84216623	C	G	84216623	3	3	190	1	0	0	0	0	1	0	0	0	7399	594	21	4	129	4	HPSE	4	84216623	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	36894441	84216623	106937653	21	13125											
LRIT3	345193	broad.mit.edu	37	chr4	110791269	110791269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaaatttaaaggtggCaaagaatggaagtaagcttc	19	8	11	3	0	0	2	0	0	0	2	1	4	0	3	0	3	1	3	0	3	9	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:110791269C>A	uc003hzx.4	+	2	1422	c.1229C>A	c.(1228-1230)gCa>gAa	p.A410E	LRIT3_uc003hzw.4_Missense_Mutation_p.A272E	NM_198506	NP_940908	Q3SXY7	LRIT3_HUMAN	Homo sapiens leucine-rich repeat, immunoglobulin-like and transmembrane domains 3 (LRIT3), mRNA.	410						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TTAAAGGTGGCAAAGAATGGA	0.458													A	110791269	C	A	110791269	3	1	190	1	0	0	0	0	1	0	0	0	9019	710	25	4	1239	4	LRIT3	4	110791269	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	26574646	110791269	80363007	22	13126											
MYOZ2	51778	broad.mit.edu	37	chr4	120072132	120072132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggctatttaagatgcGtcaaagaagatctgacaaat	15	10	9	7	1	2	4	1	1	1	3	2	4	2	4	1	1	2	1	1	1	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:120072132G>A	uc003icp.4	+	2	395	c.182G>A	c.(181-183)cGt>cAt	p.R61H		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	61							protein phosphatase 2B binding	p.R61C(1)		endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TTTAAGATGCGTCAAAGAAGA	0.398													A	120072132	G	A	120072132	3	1	190	1	0	0	0	0	1	0	0	0	10172	1145	40	1	188	1	MYOZ2	4	120072132	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	9280863	120072132	71082144	23	13127											
FSTL5	56884	broad.mit.edu	37	chr4	162577565	162577565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggttccttgaatggcaCagctcagaacagcactttgt	10	11	10	10	0	2	2	2	1	0	1	3	2	3	2	1	2	3	4	1	2	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr4:162577565C>G	uc003iqh.3	-	6	1245	c.809G>C	c.(808-810)tGt>tCt	p.C270S	FSTL5_uc003iqi.3_Missense_Mutation_p.C269S|FSTL5_uc010iqv.3_Missense_Mutation_p.C269S	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	270	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGAATGGCACAGCTCAGAAC	0.393													G	162577565	C	G	162577565	3	3	190	1	0	0	0	0	1	0	0	0	6132	478	17	4	1774	4	FSTL5	4	162577565	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	42505433	162577565	28576711	24	13128											
OSMR	9180	broad.mit.edu	37	chr5	38904563	38904563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagccacttctggaaaTggagtgaatggagtggtcag	11	9	14	7	0	2	1	1	1	1	0	2	4	2	4	2	4	2	0	2	4	2	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:38904563T>A	uc003jln.2	+	8	1645	c.1243T>A	c.(1243-1245)Tgg>Agg	p.W415R		NM_003999	NP_003990	Q99650	OSMR_HUMAN	Homo sapiens oncostatin M receptor (OSMR), transcript variant 1, mRNA.	415	Fibronectin type-III 1.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					CTTCTGGAAATGGAGTGAATG	0.488													A	38904563	T	A	38904563	3	1	190	1	0	0	0	0	1	0	0	0	11368	1464	51	5	1311	5	OSMR	5	38904563	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		38904563	142010697	25	13129											
COX7C	1350	broad.mit.edu	37	chr5	85915176	85915176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttttccaacagaatttgCcattttcagtggaaaacaag	13	15	6	7	0	1	1	1	0	0	1	2	2	2	2	2	1	3	0	2	1	5	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:85915176C>T	uc003kir.3	+	1	171	c.82C>T	c.(82-84)Cca>Tca	p.P28S	MIR3607_uc021yba.1_5'Flank	NM_001867	NP_001858	P15954	COX7C_HUMAN	Homo sapiens cytochrome c oxidase subunit VIIc (COX7C), nuclear gene encoding mitochondrial protein, mRNA.	28					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane	cytochrome-c oxidase activity			endometrium(1)|lung(1)	2		all_cancers(142;7e-06)|Lung NSC(167;0.000601)|all_lung(232;0.000693)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;1.56e-40)|Epithelial(54;3.17e-34)|all cancers(79;3.36e-29)		ACAGAATTTGCCATTTTCAGT	0.338													T	85915176	C	T	85915176	3	4	190	1	0	0	0	0	1	0	0	0	3815	739	26	2	88	2	COX7C	5	85915176	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	47010613	85915176	95000084	26	13130											
PCDHAC2	56137	broad.mit.edu	37	chr5	140255258	140255258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgttccgggtggcGtccaaaagacacggggacct	7	6	14	14	5	0	1	0	0	0	1	2	2	2	2	5	4	0	1	5	4	2	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:140255258G>A	uc003lic.2	+	0	328	c.201G>A	c.(199-201)gcG>gcA	p.A67A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc011daf.2_Silent_p.A67A	NM_018903	NP_061726	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 12 (PCDHA12), transcript variant 1, mRNA.	85	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGGTGGCGTCCAAAAGAC	0.632													A	140255258	G	A	140255258	2	1	190	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140255258	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	54340082	140255258	40660002	27	13131											
SH3RF2	153769	broad.mit.edu	37	chr5	145393533	145393533	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcgccatatggtagagaTcagcaccccagtgctcatca	11	7	11	12	1	3	1	3	0	0	1	3	2	3	1	3	2	2	3	3	2	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr5:145393533T>G	uc003lnt.3	+	4	1206	c.968T>G	c.(967-969)aTc>aGc	p.I323S	SH3RF2_uc011dbl.1_Missense_Mutation_p.I323S	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	323							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.E322K(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGGTAGAGATCAGCACCCCA	0.567													G	145393533	T	G	145393533	3	3	190	1	0	0	0	0	1	0	0	0	14353	1435	50	5	982	5	SH3RF2	5	145393533	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	5138275	145393533	35521727	28	13132											
ITPR3	3710	broad.mit.edu	37	chr6	33644615	33644615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcggagctggaccggctgcGgaccatggtggagaagtcag	8	6	18	9	3	1	1	1	0	0	1	2	5	1	4	2	6	2	2	2	6	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:33644615G>A	uc021ywr.1	+	25	3577	c.3353G>A	c.(3352-3354)cGg>cAg	p.R1118Q		NM_002224	NP_002215	Q14573	ITPR3_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 3 (ITPR3), mRNA.	1118					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GACCGGCTGCGGACCATGGTG	0.597													A	33644615	G	A	33644615	3	1	190	1	0	0	0	0	1	0	0	0	7980	1116	39	1	3455	1	ITPR3	6	33644615	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		33644615	137470452	29	13133											
KCNK16	83795	broad.mit.edu	37	chr6	39282798	39282814	+	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TGGATATGGGGAAGTCC	-																															tcagcttcccagtcctttctTggatatggggaagtcctggg																								rs147542213	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:39282798_39282814delTGGATATGGGGAAGTCC	uc003oor.4	-	4					KCNK17_uc003oop.3_5'Flank|KCNK17_uc003ooo.3_5'Flank|KCNK16_uc003ooq.3_Frame_Shift_Del_p.Q298fs|KCNK16_uc010jwy.3_Frame_Shift_Del_p.Q251fs	NM_001135105	NP_001128577	Q96T55	KCNKG_HUMAN	Homo sapiens potassium channel, subfamily K, member 16 (KCNK16), transcript variant 1, mRNA.							integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTCCTTTCTTGGATATGGGGAAGTCCTGGGGTGTGA	0.59													-	39282814	TGGATATGGGGAAGTCC	-	39282798	7	5	190	1	0	1	0	1	0	0	0	0	8121	1821	63	0	23	0	KCNK16	6	39282798	Frame_Shift_Del	DEL	TGGATATGGGGAAGTCC	TCGA-27-1838-01A-01D-1494-08	5638183	39282798	131832269	30	13134											
CUL9	23113	broad.mit.edu	37	chr6	43164484	43164484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccaagagctgagagacaCgttgtttaggcactcaggga	13	7	12	9	1	1	3	1	1	0	2	1	5	1	4	1	2	2	4	1	2	3	3	rs142672693	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43164484C>A	uc003ouk.3	+	10	2762	c.2687C>A	c.(2686-2688)aCg>aAg	p.T896K	CUL9_uc003oul.3_Missense_Mutation_p.T896K|CUL9_uc010jyk.3_Missense_Mutation_p.T48K	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	896					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CTGAGAGACACGTTGTTTAGG	0.517													A	43164484	C	A	43164484	3	1	190	1	0	0	0	0	1	0	0	0	4094	536	19	4	2725	4	CUL9	6	43164484	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	3881686	43164484	127950583	31	13135											
ABCC10	89845	broad.mit.edu	37	chr6	43413522	43413522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctgctcctgctgccGcctttgagcatcatgtacta	5	13	10	13	1	1	1	1	1	0	0	2	1	2	1	3	1	6	6	3	1	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:43413522G>A	uc003ouy.1	+	14	3431	c.3216G>A	c.(3214-3216)ccG>ccA	p.P1072P	ABCC10_uc003ouz.1_Silent_p.P1044P|ABCC10_uc010jyo.1_Silent_p.P178P	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1072	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCTGCTGCCGCCTTTGAGCA	0.662													A	43413522	G	A	43413522	2	1	190	1	0	0	0	0	0	0	0	1	50	1074	38	1		1	ABCC10	6	43413522	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	249038	43413522	127701545	32	13136											
GCM1	8521	broad.mit.edu	37	chr6	52993580	52993580	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcagatctgtgattccTcccagaccataactcttgga	10	12	7	12	0	4	3	2	1	2	2	6	4	6	4	3	1	1	0	3	1	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:52993580T>C	uc003pbp.3	-	5	944	c.735A>G	c.(733-735)ggA>ggG	p.G245G		NM_003643	NP_003634	Q9NP62	GCM1_HUMAN	Homo sapiens glial cells missing homolog 1 (Drosophila) (GCM1), mRNA.	245						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CTGTGATTCCTCCCAGACCAT	0.453													C	52993580	T	C	52993580	2	2	190	1	0	0	0	0	0	0	0	1	6351	1538	54	3		3	GCM1	6	52993580	Silent	SNP	T	TCGA-27-1838-01A-01D-1494-08	9580058	52993580	118121487	33	13137											
LGSN	51557	broad.mit.edu	37	chr6	63990360	63990360	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccttggaataacgctttcGgcagctaacagaaggcgcca	11	8	11	11	3	0	1	0	0	0	1	2	2	1	2	2	3	3	3	2	3	4	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:63990360G>A	uc003peh.3	-	3	1130	c.1096C>T	c.(1096-1098)Cga>Tga	p.R366*	LGSN_uc003pei.3_3'UTR	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN	Homo sapiens lengsin, lens protein with glutamine synthetase domain (LGSN), transcript variant 1, mRNA.	366					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	TAACGCTTTCGGCAGCTAACA	0.478													A	63990360	G	A	63990360	4	1	190	1	0	0	0	0	0	1	0	0	8819	1124	39	1	437	1	LGSN	6	63990360	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	10996780	63990360	107124707	34	13138											
PHF3	23469	broad.mit.edu	37	chr6	64422167	64422167	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacgagtcttagtctcagAggtaagccaccagatgtttc	10	12	10	9	1	2	3	1	1	2	2	4	4	2	3	2	1	1	2	2	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:64422167A>G	uc003pep.1	+	14	4708	c.4683A>G	c.(4681-4683)agA>agG	p.R1561R	PHF3_uc003pen.2_Silent_p.R1473R|PHF3_uc011dxs.1_Silent_p.R830R	NM_015153	NP_055968	Q92576	PHF3_HUMAN	Homo sapiens PHD finger protein 3 (PHF3), mRNA.	1561					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TTAGTCTCAGAGGTAAGCCAC	0.353													G	64422167	A	G	64422167	2	3	190	1	0	0	0	0	0	0	0	1	11913	301	11	3		3	PHF3	6	64422167	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	431807	64422167	106692900	35	13139											
SEC63	11231	broad.mit.edu	37	chr6	108250659	108250659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctggggttttaataaccGtaaacgataccacatacacc	13	10	8	10	2	0	0	0	0	0	0	0	1	0	0	3	3	4	3	3	3	6	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:108250659G>A	uc003psc.4	-	1	453	c.184C>T	c.(184-186)Cgg>Tgg	p.R62W		NM_007214	NP_009145	Q9UGP8	SEC63_HUMAN	Homo sapiens SEC63 homolog (S. cerevisiae) (SEC63), mRNA.	62					protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.R62W(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTAATAACCGTAAACGATAC	0.299													A	108250659	G	A	108250659	3	1	190	1	0	0	0	0	1	0	0	0	14098	1144	40	1	2178	1	SEC63	6	108250659	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	43828492	108250659	62864408	36	13140											
SLC22A2	6582	broad.mit.edu	37	chr6	160663362	160663362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcagcattgaccaggCagactatctcataggccatt	12	9	8	12	0	2	2	2	1	1	1	3	2	2	2	2	2	2	3	2	2	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr6:160663362C>A	uc003qtf.3	-	7	1526	c.1352G>T	c.(1351-1353)tGc>tTc	p.C451F		NM_003058	NP_003049	O15244	S22A2_HUMAN	Homo sapiens solute carrier family 22 (organic cation transporter), member 2 (SLC22A2), mRNA.	451		Involved in recognition of organic cations and participates in structural changes that occur during translocation of organic cations (By similarity).			body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		ATTGACCAGGCAGACTATCTC	0.438													A	160663362	C	A	160663362	3	1	190	1	0	0	0	0	1	0	0	0	14545	710	25	4	331	4	SLC22A2	6	160663362	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	52412703	160663362	10451705	37	13141											
DGKB	1607	broad.mit.edu	37	chr7	14733777	14733777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccagagacacggttcCatcatgatcatagtcaattt	11	13	6	11	1	3	2	3	1	0	1	6	3	6	2	3	1	0	1	3	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:14733777C>T	uc003ssz.3	-	7	821	c.634G>A	c.(634-636)Gga>Aga	p.G212R	DGKB_uc011jxt.2_Missense_Mutation_p.G205R|DGKB_uc003sta.3_Missense_Mutation_p.G212R|DGKB_uc011jxu.2_Missense_Mutation_p.G212R|DGKB_uc011jxv.1_Missense_Mutation_p.G212R	NM_004080	NP_004071	Q9Y6T7	DGKB_HUMAN	Homo sapiens diacylglycerol kinase, beta 90kDa (DGKB), transcript variant 1, mRNA.	212	EF-hand 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	GACACGGTTCCATCATGATCA	0.418													T	14733777	C	T	14733777	3	4	190	1	0	0	0	0	1	0	0	0	4505	603	21	2	1867	2	DGKB	7	14733777	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		14733777	144404886	38	13142											
TRA2A	29896	broad.mit.edu	37	chr7	23552560	23552560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atacacaaaagcaaatcctcGagatcgcccagttcgctgat	14	8	7	12	3	0	2	0	1	0	1	4	3	1	2	2	0	2	3	2	0	4	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:23552560G>C	uc003swi.3	-	3	691	c.478C>G	c.(478-480)Cga>Gga	p.R160G	TRA2A_uc011jzb.2_Non-coding_Transcript|TRA2A_uc011jzc.2_Missense_Mutation_p.R59G|TRA2A_uc011jzd.2_Missense_Mutation_p.R59G|TRA2A_uc010kuo.1_Non-coding_Transcript	NM_013293	NP_037425	Q13595	TRA2A_HUMAN	Homo sapiens transformer 2 alpha homolog (Drosophila) (TRA2A), mRNA.	160	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GCAAATCCTCGAGATCGCCCA	0.378													C	23552560	G	C	23552560	3	2	190	1	0	0	0	0	1	0	0	0	16534	1066	37	4	390	4	TRA2A	7	23552560	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	8818783	23552560	135586103	39	13143											
GHRHR	2692	broad.mit.edu	37	chr7	31009513	31009513	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggattgtactatcactggCtggtctgagccctttccacc	6	12	10	13	1	2	1	1	1	1	0	3	2	3	2	3	3	2	2	3	3	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:31009513C>A	uc003tbx.3	+	3	348	c.300C>A	c.(298-300)ggC>ggA	p.G100G	GHRHR_uc003tby.3_Silent_p.G36G|GHRHR_uc003tbz.3_5'UTR	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	100					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CTATCACTGGCTGGTCTGAGC	0.602													A	31009513	C	A	31009513	2	1	190	1	0	0	0	0	0	0	0	1	6429	784	28	4		4	GHRHR	7	31009513	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	7456953	31009513	128129150	40	13144											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:55221822C>A	uc003tqk.3	+	6	1112	c.866C>A	c.(865-867)gCc>gAc	p.A289D	EGFR_uc003tqh.3_Missense_Mutation_p.A289D|EGFR_uc003tqi.3_Missense_Mutation_p.A289D|EGFR_uc003tqj.3_Missense_Mutation_p.A289D|EGFR_uc022adm.1_Missense_Mutation_p.A289D|EGFR_uc010kzg.2_Missense_Mutation_p.A244D|EGFR_uc022adn.1_Missense_Mutation_p.A244D|EGFR_uc011kco.2_Missense_Mutation_p.A236D|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221822	C	A	55221822	3	1	190	1	0	0	0	0	1	0	0	0	5006	739	26	4	892	4	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	24212309	55221822	103916841	41	13145											
PCLO	27445	broad.mit.edu	37	chr7	82474620	82474620	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctttttgctcactgaGggggaccctggttgcccagg	4	13	13	11	0	2	1	1	1	1	0	2	2	2	2	2	4	3	3	2	4	0	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:82474620G>A	uc003uhx.2	-	12	14302	c.14013C>T	c.(14011-14013)ccC>ccT	p.P4671P	PCLO_uc003uhv.2_Silent_p.P4671P|PCLO_uc003uht.1_Silent_p.P122P|PCLO_uc003uhu.1_Silent_p.P101P	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	4559					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCTCACTGAGGGGGACCCTG	0.488													A	82474620	G	A	82474620	2	1	190	1	0	0	0	0	0	0	0	1	11659	987	35	2		2	PCLO	7	82474620	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	27252798	82474620	76664043	42	13146											
STEAP4	79689	broad.mit.edu	37	chr7	87913202	87913202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatgcttttaccacgtggGctcctggcaccaaatgagca	11	10	9	11	1	0	1	0	1	0	0	1	1	1	1	3	2	3	4	3	2	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:87913202G>A	uc022agz.1	-	2	606	c.383C>T	c.(382-384)gCc>gTc	p.A128V	STEAP4_uc003ujs.3_Missense_Mutation_p.A128V|STEAP4_uc010lek.3_Missense_Mutation_p.A128V	NM_001205315	NP_001192244	Q687X5	STEA4_HUMAN	Homo sapiens STEAP family member 4 (STEAP4), transcript variant 2, mRNA.	128					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					TACCACGTGGGCTCCTGGCAC	0.428													A	87913202	G	A	87913202	3	1	190	1	0	0	0	0	1	0	0	0	15376	1203	42	2	1012	2	STEAP4	7	87913202	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	5438582	87913202	71225461	43	13147											
ZNF655	79027	broad.mit.edu	37	chr7	99170930	99170930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttattcagcatcaaaGaattcacacaggagagaaag	18	8	7	8	0	4	2	3	0	1	2	4	4	4	3	0	1	1	1	0	1	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:99170930G>T	uc010lga.3	+	3	1697	c.1304G>T	c.(1303-1305)aGa>aTa	p.R435I	ZNF655_uc003urh.3_Missense_Mutation_p.R400I|ZNF655_uc010lgc.3_Missense_Mutation_p.R435I|ZNF655_uc003urj.3_Missense_Mutation_p.R400I|ZNF655_uc003urk.3_Missense_Mutation_p.R237I|ZNF655_uc010lgd.3_Missense_Mutation_p.R237I	NM_001083956	NP_001078837	Q8N720	ZN655_HUMAN	Homo sapiens zinc finger protein 655 (ZNF655), transcript variant 7, mRNA.	400					G1 phase|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding	p.R435T(1)|p.R400T(1)		NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	16	all_epithelial(64;3.19e-09)|Lung NSC(181;0.0066)|all_lung(186;0.011)|Esophageal squamous(72;0.0166)					CAGCATCAAAGAATTCACACA	0.353													T	99170930	G	T	99170930	3	4	190	1	0	0	0	0	1	0	0	0	18169	942	33	4	1736	4	ZNF655	7	99170930	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11257728	99170930	59967733	44	13148											
RELN	5649	broad.mit.edu	37	chr7	103368622	103368622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcataatcgcgccacacTgttctccagtctcacagttg	9	11	7	14	2	2	0	1	0	2	0	5	0	2	0	2	0	1	3	2	0	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:103368622T>C	uc022ajr.1	-	6	849	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	RELN_uc022ajq.1_Missense_Mutation_p.Q230R|RELN_uc010liz.3_Missense_Mutation_p.Q230R	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	230					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCGCCACACTGTTCTCCAGT	0.458													C	103368622	T	C	103368622	3	2	190	1	0	0	0	0	1	0	0	0	13308	1580	55	3	9929	3	RELN	7	103368622	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	4197692	103368622	55770041	45	13149											
TAS2R16	50833	broad.mit.edu	37	chr7	122635067	122635067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccagtgctatgatgttGtatctgcttggtcagtgatg	7	15	13	6	0	2	3	1	3	1	0	2	3	2	3	1	1	2	4	1	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:122635067G>T	uc003vkl.1	-	0	688	c.622C>A	c.(622-624)Caa>Aaa	p.Q208K		NM_016945	NP_058641	Q9NYV7	T2R16_HUMAN	Homo sapiens taste receptor, type 2, member 16 (TAS2R16), mRNA.	208					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTATGATGTTGTATCTGCTTG	0.463													T	122635067	G	T	122635067	3	4	190	1	0	0	0	0	1	0	0	0	15666	1386	48	4	257	4	TAS2R16	7	122635067	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	19266445	122635067	36503596	46	13150											
TRPV6	55503	broad.mit.edu	37	chr7	142575732	142575732	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaacttgttcagggccTggacatcattatctttggca	9	13	10	9	0	3	1	2	1	1	0	3	2	3	2	1	3	2	3	1	3	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr7:142575732T>C	uc003wbx.2	-	1	405	c.176A>G	c.(175-177)cAg>cGg	p.Q59R	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	59					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTTCAGGGCCTGGACATCATT	0.493													C	142575732	T	C	142575732	3	2	190	1	0	0	0	0	1	0	0	0	16701	1580	55	3	2057	3	TRPV6	7	142575732	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	19940665	142575732	16562931	47	13151											
DCTN6	10671	broad.mit.edu	37	chr8	30040689	30040689	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaactccagtaaagaactaAgaacagtgtataacatgaag	19	8	7	7	0	1	3	1	1	0	2	2	3	2	3	1	0	4	2	1	0	9	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:30040689A>C	uc003xhy.3	+	6	660	c.573A>C	c.(571-573)taA>taC	p.*191Y	MIR548O2_uc022atm.1_Intron	NM_006571	NP_006562	O00399	DCTN6_HUMAN	Homo sapiens dynactin 6 (DCTN6), mRNA.	0						centrosome	transferase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)	4				KIRC - Kidney renal clear cell carcinoma(542;0.099)|Kidney(114;0.119)		TAAAGAACTAAGAACAGTGTA	0.378													C	30040689	A	C	30040689	4	2	190	1	0	0	0	0	0	0	0	0	4345	79	3	5	599	5	DCTN6	8	30040689	Nonstop_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08		30040689	116323333	48	13152											
PLEKHA2	59339	broad.mit.edu	37	chr8	38826181	38826181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccaggccctcaagtgccaCcccagagtaagtcacttcct	9	8	8	16	0	2	1	2	0	0	1	4	1	4	1	6	1	1	1	6	1	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:38826181C>T	uc003xmi.4	+	10	1143	c.909C>T	c.(907-909)caC>caT	p.H303H	PLEKHA2_uc011lce.2_Silent_p.H253H	NM_021623	NP_067636	Q9HB19	PKHA2_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2 (PLEKHA2), mRNA.	303					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAAGTGCCACCCCAGAGTAA	0.498													T	38826181	C	T	38826181	2	4	190	1	0	0	0	0	0	0	0	1	12133	506	18	2		2	PLEKHA2	8	38826181	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	8785492	38826181	107537841	49	13153											
ANK1	286	broad.mit.edu	37	chr8	41543721	41543721	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttcagcaaggccacacTctgctccaacagggagttgg	10	7	13	11	0	2	0	1	0	1	0	3	2	3	1	2	4	3	4	2	4	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:41543721T>A	uc003xok.3	-	35	4423	c.4339A>T	c.(4339-4341)Agt>Tgt	p.S1447C	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_Missense_Mutation_p.S763C|ANK1_uc003xoi.3_Missense_Mutation_p.S1447C|ANK1_uc003xoj.3_Missense_Mutation_p.S1447C|ANK1_uc003xol.3_Missense_Mutation_p.S1447C|ANK1_uc003xom.3_Missense_Mutation_p.S1488C	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	1447	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			AAGGCCACACTCTGCTCCAAC	0.557													A	41543721	T	A	41543721	3	1	190	1	0	0	0	0	1	0	0	0	620	1551	54	5	1660	5	ANK1	8	41543721	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	2717540	41543721	104820301	50	13154											
IL7	3574	broad.mit.edu	37	chr8	79645969	79645969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagtgttctttagtgcccatCaaaattttattccaacaagt	12	15	5	9	0	2	0	1	0	1	0	3	0	3	0	2	0	2	1	2	0	6	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:79645969C>T	uc003ybg.3	-	5	1114	c.513G>A	c.(511-513)ttG>ttA	p.L171L	IL7_uc022awh.1_Silent_p.L153L|IL7_uc022awi.1_Silent_p.L127L|IL7_uc022awj.1_Silent_p.L109L|IL7_uc003ybh.3_Non-coding_Transcript|IL7_uc003ybi.3_Non-coding_Transcript	NM_000880	NP_000871	P13232	IL7_HUMAN	Homo sapiens interleukin 7 (IL7), transcript variant 1, mRNA.	171					bone resorption|cell-cell signaling|humoral immune response|organ morphogenesis|positive regulation of B cell proliferation|positive regulation of T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-7 receptor binding			endometrium(2)|large_intestine(2)|lung(1)	5						TAGTGCCCATCAAAATTTTAT	0.323													T	79645969	C	T	79645969	2	4	190	1	0	0	0	0	0	0	0	1	7762	825	29	2		2	IL7	8	79645969	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	38102248	79645969	66718053	51	13155											
RGS22	26166	broad.mit.edu	37	chr8	101016271	101016271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattatcccaatattctgttCgtttagagacgttagagagt	11	15	8	7	2	1	2	0	0	1	2	3	4	2	2	1	0	0	3	1	0	5	7			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr8:101016271C>T	uc003yjb.1	-	16	2705	c.2510G>A	c.(2509-2511)cGa>cAa	p.R837Q	RGS22_uc003yja.1_Missense_Mutation_p.R656Q|RGS22_uc003yjc.1_Missense_Mutation_p.R825Q|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Missense_Mutation_p.R226Q|SNORD77_uc022azg.1_5'Flank	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	837					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity	p.R837Q(3)	RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ATATTCTGTTCGTTTAGAGAC	0.353													T	101016271	C	T	101016271	3	4	190	1	0	0	0	0	1	0	0	0	13394	884	31	1	1328	1	RGS22	8	101016271	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	21370302	101016271	45347751	52	13156											
SMARCA2	6595	broad.mit.edu	37	chr9	2029232	2029232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttcccacaggaaggcatGcatcaaatgcataaggtaag	15	7	10	9	0	1	0	1	0	0	0	2	2	2	1	1	3	2	4	1	3	4	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:2029232G>C	uc003zhc.3	+	1	309	c.210G>C	c.(208-210)atG>atC	p.M70I	SMARCA2_uc003zhd.3_Missense_Mutation_p.M70I|SMARCA2_uc010mha.3_Missense_Mutation_p.M61I	NM_003070	NP_003061	P51531	SMCA2_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2), transcript variant 1, mRNA.	70					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		AGGAAGGCATGCATCAAATGC	0.493													C	2029232	G	C	2029232	3	2	190	1	0	0	0	0	1	0	0	0	14863	1319	46	4	212	4	SMARCA2	9	2029232	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		2029232	139184199	53	13157											
IL33	90865	broad.mit.edu	37	chr9	6251142	6251142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcccatccggtctgcaggtAgaaagcacaaaagacatctg	14	7	9	11	1	2	2	0	0	2	2	4	2	4	2	2	2	2	3	2	2	4	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:6251142A>G	uc003zjt.3	+	3	298	c.220A>G	c.(220-222)Aga>Gga	p.R74G	IL33_uc011lmg.2_Missense_Mutation_p.R74G|IL33_uc011lmh.2_Intron|IL33_uc022bdf.1_Intron	NM_033439	NP_254274	O95760	IL33_HUMAN	Homo sapiens interleukin 33 (IL33), transcript variant 1, mRNA.	74					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTGCAGGTAGAAAGCACAA	0.493													G	6251142	A	G	6251142	3	3	190	1	0	0	0	0	1	0	0	0	7751	412	15	3	230	3	IL33	9	6251142	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	4221910	6251142	134962289	54	13158											
ZNF484	83744	broad.mit.edu	37	chr9	95610513	95610513	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atataaggttatgataggctCcaaattctttccacacgagt	13	13	7	8	1	1	1	0	1	1	0	3	2	3	1	2	2	0	2	2	2	5	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:95610513C>A	uc004asu.1	-	4	705	c.556G>T	c.(556-558)Gag>Tag	p.E186*	ANKRD19P_uc004asr.4_Intron|ZNF484_uc011lub.1_Nonsense_Mutation_p.E188*|ZNF484_uc004asv.1_Nonsense_Mutation_p.E150*|ZNF484_uc010mrb.1_Nonsense_Mutation_p.E150*	NM_031486	NP_001007102	Q5JVG2	ZN484_HUMAN	Homo sapiens zinc finger protein 484 (ZNF484), transcript variant 1, mRNA.	186					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						ATGATAGGCTCCAAATTCTTT	0.343													A	95610513	C	A	95610513	4	1	190	1	0	0	0	0	0	1	0	0	18038	864	30	4	2006	4	ZNF484	9	95610513	Nonsense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	89359371	95610513	45602918	55	13159											
ZNF462	58499	broad.mit.edu	37	chr9	109687562	109687562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcgacgtagcatctctcgtCacatagaaaacatccactta	14	10	5	12	3	2	1	1	0	1	1	6	2	3	1	1	0	2	2	1	0	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:109687562C>G	uc004bcz.3	+	2	1658	c.1369C>G	c.(1369-1371)Cac>Gac	p.H457D	MIR548Q_uc022bli.1_Intron|ZNF462_uc010mto.3_Missense_Mutation_p.H305D|ZNF462_uc004bda.3_Missense_Mutation_p.H305D	NM_021224	NP_067047	Q96JM2	ZN462_HUMAN	Homo sapiens zinc finger protein 462 (ZNF462), mRNA.	457					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CATCTCTCGTCACATAGAAAA	0.438													G	109687562	C	G	109687562	3	3	190	1	0	0	0	0	1	0	0	0	18027	826	29	4	1375	4	ZNF462	9	109687562	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	14077049	109687562	31525869	56	13160											
FAM129B	64855	broad.mit.edu	37	chr9	130289580	130289580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggttccccgagaagaCgatgcgctcgtccagtggca	10	6	14	11	4	0	3	0	0	0	3	3	6	2	3	3	2	1	3	3	2	2	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:130289580C>T	uc004brh.3	-	2	410	c.208G>A	c.(208-210)Gtc>Atc	p.V70I	FAM129B_uc004bri.3_Missense_Mutation_p.V57I|FAM129B_uc004brj.4_Missense_Mutation_p.V70I	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	70	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCCGAGAAGACGATGCGCTCG	0.637													T	130289580	C	T	130289580	3	4	190	1	0	0	0	0	1	0	0	0	5482	536	19	1	2080	1	FAM129B	9	130289580	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	20602018	130289580	10923851	57	13161											
PAEP	5047	broad.mit.edu	37	chr9	138453719	138453719	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggacatcccccagacCaagcaggacctggagctccc	10	4	10	17	0	0	1	0	0	0	1	2	4	2	4	6	3	2	2	6	3	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr9:138453719C>A	uc004cge.1	+	0	116	c.72C>A	c.(70-72)acC>acA	p.T24T	PAEP_uc010naw.1_Silent_p.T24T|PAEP_uc010nay.3_Silent_p.T24T|PAEP_uc010naz.3_Non-coding_Transcript|PAEP_uc010nba.1_Silent_p.T24T|PAEP_uc004cgd.1_Silent_p.T24T|PAEP_uc011mdp.1_Silent_p.T24T|PAEP_uc004cgg.1_Silent_p.T24T|PAEP_uc004cgf.1_Silent_p.T24T	NM_001018049	NP_002562	P09466	PAEP_HUMAN	Homo sapiens progestagen-associated endometrial protein (PAEP), transcript variant 1, mRNA.	24					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		TCCCCCAGACCAAGCAGGACC	0.682													A	138453719	C	A	138453719	2	1	190	1	0	0	0	0	0	0	0	1	11458	581	21	4		4	PAEP	9	138453719	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	8164139	138453719	2759712	58	13162											
ADARB2	105	broad.mit.edu	37	chr10	1262895	1262895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgtgggcctcacctggCgatcttgtccgtgcaggaca	7	8	13	13	3	2	0	1	0	1	0	3	2	3	1	4	3	2	1	4	3	1	1	rs142663256	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:1262895C>T	uc009xhq.3	-	6	2004	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	560	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	p.A560T(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		CCTCACCTGGCGATCTTGTCC	0.677													T	1262895	C	T	1262895	3	4	190	1	0	0	0	0	1	0	0	0	283	768	27	1	557	1	ADARB2	10	1262895	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		1262895	134271852	59	13163											
GDF10	2662	broad.mit.edu	37	chr10	48429388	48429388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgctggcgtgtgggCgggcccaggggcagcgggcg	4	4	23	10	4	0	0	0	0	0	0	0	0	0	0	1	7	3	3	1	7	0	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:48429388C>T	uc001jfb.3	-	1	926	c.498G>A	c.(496-498)ccG>ccA	p.P166P	GDF10_uc009xnp.3_Silent_p.P165P|GDF10_uc009xnq.2_Silent_p.P166P	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	166					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						GGCGTGTGGGCGGGCCCAGGG	0.726													T	48429388	C	T	48429388	2	4	190	1	0	0	0	0	0	0	0	1	6367	755	27	1		1	GDF10	10	48429388	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	47166493	48429388	87105359	60	13164											
MAT1A	4143	broad.mit.edu	37	chr10	82034333	82034333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccacatccagcagctctCgctctgtcttctgagaggtt	7	11	9	14	1	4	1	0	1	4	1	6	2	5	1	2	1	2	5	2	1	0	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:82034333C>T	uc001kbw.3	-	7	1283	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	343					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity	p.R343Q(2)		endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	CAGCAGCTCTCGCTCTGTCTT	0.557													T	82034333	C	T	82034333	3	4	190	1	0	0	0	0	1	0	0	0	9404	884	31	1	167	1	MAT1A	10	82034333	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	33604945	82034333	53500414	61	13165											
PTEN	5728	broad.mit.edu	37	chr10	89720670	89720671	+	Missense_Mutation	DNP	GG	GG	CT																															ggacaaaatgtttcacttttGggtaaatacattcttcatac																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:89720670_89720671GG>CT	uc001kfb.3	+	7	1853_1854	c.821_822GG>CT	c.(820-822)tgg>tCT	p.W274S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	274	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.W274*(14)|p.R55fs*1(5)|p.W274G(3)|p.?(2)|p.W274fs*2(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.W274_F341del(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F273S(1)|p.G165_*404del(1)|p.W274R(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTCACTTTTGGGTAAATACAT	0.267		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			CT	89720671	GG	CT	89720670	3	2	190	1	0	0	0	0	1	0	0	0	12823	1357	47	4	851	4	PTEN	10	89720670	Missense_Mutation	DNP	GG	TCGA-27-1838-01A-01D-1494-08	7686337	89720670	45814077	62	13166											
AFAP1L2	84632	broad.mit.edu	37	chr10	116062141	116062141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaatacaggagaccctatCggcatccacatagtcgtagg	13	7	9	12	2	0	1	0	0	0	1	3	2	1	1	2	3	1	2	2	3	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr10:116062141C>T	uc001lbn.3	-	11	1688	c.1387G>A	c.(1387-1389)Gat>Aat	p.D463N	AFAP1L2_uc001lbo.3_Missense_Mutation_p.D463N|AFAP1L2_uc010qse.2_Missense_Mutation_p.D516N|AFAP1L2_uc001lbp.3_Missense_Mutation_p.D491N|AFAP1L2_uc001lbr.1_Missense_Mutation_p.D463N|AFAP1L2_uc001lbm.3_5'Flank|AFAP1L2_uc010qsd.2_Missense_Mutation_p.D29N|AFAP1L2_uc001lbq.1_5'Flank	NM_001001936	NP_001001936	Q8N4X5	AF1L2_HUMAN	Homo sapiens actin filament associated protein 1-like 2 (AFAP1L2), transcript variant 1, mRNA.	463					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GAGACCCTATCGGCATCCACA	0.527													T	116062141	C	T	116062141	3	4	190	1	0	0	0	0	1	0	0	0	355	884	31	1	1101	1	AFAP1L2	10	116062141	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	26341471	116062141	19472606	63	13167											
C11orf35	256329	broad.mit.edu	37	chr11	556891	556891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgctcggaggaagcgCggtggtcccggggcgggtgc	3	6	21	11	6	0	0	0	0	0	0	2	2	1	2	1	7	3	2	1	7	1	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:556891C>T	uc001lpx.3	-	7	983	c.920G>A	c.(919-921)cGc>cAc	p.R307H	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	307										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGAAGCGCGGTGGTCCCG	0.692													T	556891	C	T	556891	3	4	190	1	0	0	0	0	1	0	0	0	1650	768	27	1	1012	1	C11orf35	11	556891	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		556891	134449625	64	13168											
OR4A15	81328	broad.mit.edu	37	chr11	55135749	55135749	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgtatggctcaacttttTatggatcatttatttgctgg	7	19	10	5	0	2	0	2	0	0	0	2	1	2	1	0	4	2	4	0	4	4	8			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55135749T>C	uc010rif.2	+	0	390	c.390T>C	c.(388-390)ttT>ttC	p.F130F		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCAACTTTTTATGGATCATT	0.403													C	55135749	T	C	55135749	2	2	190	1	0	0	0	0	0	0	0	1	11116	1751	61	3		3	OR4A15	11	55135749	Silent	SNP	T	TCGA-27-1838-01A-01D-1494-08	54578858	55135749	79870767	65	13169											
OR5D16	390144	broad.mit.edu	37	chr11	55606949	55606950	+	Frame_Shift_Ins	INS	-	-	CACCT																															gggcaccgcaaagtcttctcINScacctgtgcctcccacctga																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55606949_55606950insCACCT	uc010rio.2	+	0	722_723	c.722_723insCACCT	c.(721-723)tccfs	p.S241fs		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F240L(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				AAAGTCTTCTCCACCTGTGCCT	0.49													CACCT	55606950	-	CACCT	55606949	7	5	190	1	0	1	1	0	0	0	0	0	11232	855	30	0	724	0	OR5D16	11	55606949	Frame_Shift_Ins	INS	-	TCGA-27-1838-01A-01D-1494-08	471200	55606949	79399567	66	13170											
OR8H2	390151	broad.mit.edu	37	chr11	55873210	55873210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaaaattaattccaCttcaggaaagcagaaagctt	16	10	6	9	0	1	2	1	1	0	1	3	3	3	3	2	1	2	2	2	1	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:55873210C>T	uc010riy.2	+	0	692	c.692C>T	c.(691-693)aCt>aTt	p.T231I		NM_001005200	NP_001005200	Q8N162	OR8H2_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 2 (OR8H2), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTAATTCCACTTCAGGAAAG	0.373										HNSCC(53;0.14)			T	55873210	C	T	55873210	3	4	190	1	0	0	0	0	1	0	0	0	11314	565	20	2	694	2	OR8H2	11	55873210	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	266261	55873210	79133306	67	13171											
ZP1	22917	broad.mit.edu	37	chr11	60637220	60637220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctcccaaggctctggcCatgcctttcccagcccactg	7	9	7	18	0	1	0	0	0	1	0	3	0	3	0	6	2	3	1	6	2	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:60637220C>G	uc001nqd.3	+	2	549	c.529C>G	c.(529-531)Cat>Gat	p.H177D	ZP1_uc001nqe.3_5'Flank	NM_207341	NP_997224	P60852	ZP1_HUMAN	Homo sapiens zona pellucida glycoprotein 1 (sperm receptor) (ZP1), mRNA.	177					single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGGCTCTGGCCATGCCTTTCC	0.627													G	60637220	C	G	60637220	3	3	190	1	0	0	0	0	1	0	0	0	18314	594	21	4	539	4	ZP1	11	60637220	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	4764010	60637220	74369296	68	13172											
FTH1	2495	broad.mit.edu	37	chr11	61732280	61732280	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcgggcgctcccatcttGcgcaagttggtcacgtggtc	5	11	13	12	4	2	0	1	0	1	0	5	1	3	0	1	3	1	3	1	3	1	3	rs11554851		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:61732280G>C	uc001nsu.3	-	3	706	c.471C>G	c.(469-471)cgC>cgG	p.R157R		NM_002032	NP_002023	P02794	FRIH_HUMAN	Homo sapiens ferritin, heavy polypeptide 1 (FTH1), mRNA.	157	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	CTCCCATCTTGCGCAAGTTGG	0.493													C	61732280	G	C	61732280	2	2	190	1	0	0	0	0	0	0	0	1	6134	1306	46	4		4	FTH1	11	61732280	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	1095060	61732280	73274236	69	13173											
PGR	5241	broad.mit.edu	37	chr11	100933263	100933263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcaaagaactggaggtGtcaggttttgtgttgtcatg	9	13	14	5	0	3	1	3	0	0	1	3	2	3	2	0	3	2	3	0	3	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr11:100933263G>T	uc001pgh.2	-	3	2870	c.2127C>A	c.(2125-2127)gaC>gaA	p.D709E	PGR_uc001pgg.2_Missense_Mutation_p.D90E|PGR_uc001pgi.2_Intron|PGR_uc009yww.1_Intron|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	709	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AACTGGAGGTGTCAGGTTTTG	0.408													T	100933263	G	T	100933263	3	4	190	1	0	0	0	0	1	0	0	0	11882	1368	48	4	694	4	PGR	11	100933263	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	39200983	100933263	34073253	70	13174											
CDCA3	83461	broad.mit.edu	37	chr12	6959664	6959664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcataggtgtccgtgcaaTaccaagagtaggagagcggg	11	8	14	8	2	1	2	1	0	0	2	2	3	2	2	2	3	3	2	2	3	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:6959664T>C	uc001qrg.2	-	2	345	c.217A>G	c.(217-219)Att>Gtt	p.I73V	CDCA3_uc001qre.2_Missense_Mutation_p.I73V|CDCA3_uc001qrf.1_5'Flank|USP5_uc001qrh.4_5'Flank|USP5_uc001qri.4_5'Flank	NM_031299	NP_112589	Q99618	CDCA3_HUMAN	Homo sapiens cell division cycle associated 3 (CDCA3), mRNA.	73					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						GTCCGTGCAATACCAAGAGTA	0.547													C	6959664	T	C	6959664	3	2	190	1	0	0	0	0	1	0	0	0	3117	1406	49	3	605	3	CDCA3	12	6959664	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08		6959664	126892231	71	13175											
ABCC9	10060	broad.mit.edu	37	chr12	21960380	21960380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctgtctctgtccaacgCtaaaattctccccaccttca	10	12	4	15	1	3	0	1	0	2	0	6	0	4	0	4	0	2	2	4	0	4	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21960380C>G	uc001rfh.3	-	35	4369	c.4349G>C	c.(4348-4350)aGc>aCc	p.S1450T	ABCC9_uc001rfi.1_Missense_Mutation_p.S1450T	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1450	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CTGTCCAACGCTAAAATTCTC	0.433													G	21960380	C	G	21960380	3	3	190	1	0	0	0	0	1	0	0	0	59	797	28	4	454	4	ABCC9	12	21960380	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	15000716	21960380	111891515	72	13176											
ABCC9	10060	broad.mit.edu	37	chr12	21968784	21968784	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acacacagatcatgtatcttGatctccccttcttgtggcca	9	13	6	13	0	4	2	1	1	3	1	5	2	4	2	3	1	0	1	3	1	1	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21968784G>C	uc001rfh.3	-	31	3956	c.3936C>G	c.(3934-3936)atC>atG	p.I1312M	ABCC9_uc001rfi.1_Missense_Mutation_p.I1312M	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1312	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATGTATCTTGATCTCCCCTT	0.403													C	21968784	G	C	21968784	3	2	190	1	0	0	0	0	1	0	0	0	59	1280	45	4	883	4	ABCC9	12	21968784	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	8404	21968784	111883111	73	13177											
ABCC9	10060	broad.mit.edu	37	chr12	21970190	21970190	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcactgcacccatctGgacctccaggtcagccaagt	8	10	7	16	0	4	0	2	0	2	0	5	1	5	1	4	2	2	1	4	2	1	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21970190G>A	uc001rfh.3	-	30	3843	c.3823C>T	c.(3823-3825)Cag>Tag	p.Q1275*	ABCC9_uc001rfi.1_Nonsense_Mutation_p.Q1275*	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1275					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCACCCATCTGGACCTCCAGG	0.373													A	21970190	G	A	21970190	4	1	190	1	0	0	0	0	0	1	0	0	59	1357	47	2	1000	2	ABCC9	12	21970190	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1406	21970190	111881705	74	13178											
ABCC9	10060	broad.mit.edu	37	chr12	21981913	21981913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctgacctccagccatctGttggcagctgagagaaataa	11	9	10	11	0	1	3	0	2	1	1	3	4	3	3	4	1	2	3	4	1	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:21981913G>T	uc001rfh.3	-	28	3668	c.3648C>A	c.(3646-3648)aaC>aaA	p.N1216K	ABCC9_uc001rfi.1_Missense_Mutation_p.N1216K	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1216	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCAGCCATCTGTTGGCAGCTG	0.423													T	21981913	G	T	21981913	3	4	190	1	0	0	0	0	1	0	0	0	59	1368	48	4	1183	4	ABCC9	12	21981913	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	11723	21981913	111869982	75	13179											
OR6C6	283365	broad.mit.edu	37	chr12	55688288	55688288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtcatggagacaacaatCatgtgggaagtacaggtgga	14	9	13	5	0	2	1	2	0	0	1	2	4	2	3	0	4	2	1	0	4	5	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:55688288C>G	uc010sph.2	-	0	729	c.729G>C	c.(727-729)atG>atC	p.M243I		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						AGACAACAATCATGTGGGAAG	0.368													G	55688288	C	G	55688288	3	3	190	1	0	0	0	0	1	0	0	0	11270	826	29	4	217	4	OR6C6	12	55688288	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	33706375	55688288	78163607	76	13180											
NUP107	57122	broad.mit.edu	37	chr12	69115670	69115670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtttgggcctacttccGggtgatggtggacagtctgg	6	11	15	9	1	1	1	0	1	1	0	2	2	2	2	2	5	1	1	2	5	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr12:69115670G>A	uc001suf.3	+	15	1476	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	NUP107_uc001sug.3_Missense_Mutation_p.R301Q|NUP107_uc010stj.2_Missense_Mutation_p.R425Q	NM_020401	NP_065134	P57740	NU107_HUMAN	Homo sapiens nucleoporin 107kDa (NUP107), mRNA.	454					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GCCTACTTCCGGGTGATGGTG	0.448													A	69115670	G	A	69115670	3	1	190	1	0	0	0	0	1	0	0	0	10829	1116	39	1	1423	1	NUP107	12	69115670	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	13427382	69115670	64736225	77	13181											
FLT3	2322	broad.mit.edu	37	chr13	28636174	28636174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgagctctggggtctcaaCgcacacccgaggtcttccgg	6	8	12	15	3	3	1	1	1	3	0	5	2	4	1	3	4	2	2	3	4	1	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr13:28636174C>T	uc001urw.3	-	2	280	c.198G>A	c.(196-198)gcG>gcA	p.A66A	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Silent_p.A66A	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	66					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.A66A(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGGGTCTCAACGCACACCCGA	0.537			"Mis, O"		"AML, ALL"								T	28636174	C	T	28636174	2	4	190	1	0	0	0	0	0	0	0	1	5991	523	19	1		1	FLT3	13	28636174	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08		28636174	86533704	78	13182											
RNASE11	122651	broad.mit.edu	37	chr14	21052270	21052270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcacttctgtggagctgcGgatgaagttattgctccact	8	13	10	10	1	2	1	1	1	1	0	3	3	3	3	1	2	3	3	1	2	2	3	rs144501463	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:21052270G>A	uc010ahw.3	-	2	700	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RNASE11_uc010ahv.3_Missense_Mutation_p.R122C|RNASE11_uc010ahx.3_Missense_Mutation_p.R122C|RNASE11_uc001vxs.3_Missense_Mutation_p.R122C|RNASE11_uc021rnu.1_Missense_Mutation_p.R122C	NM_145250	NP_660293	Q8TAA1	RNS11_HUMAN	Homo sapiens ribonuclease, RNase A family, 11 (non-active) (RNASE11), mRNA.	122						extracellular region	nucleic acid binding|pancreatic ribonuclease activity	p.R122S(2)|p.R122R(1)		endometrium(1)|large_intestine(6)|lung(7)|ovary(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	21	all_cancers(95;0.00238)	all_lung(585;0.235)	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.0139)		GTGGAGCTGCGGATGAAGTTA	0.488													A	21052270	G	A	21052270	3	1	190	1	0	0	0	0	1	0	0	0	13492	1116	39	1	239	1	RNASE11	14	21052270	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		21052270	86297270	79	13183											
GALNTL1	57452	broad.mit.edu	37	chr14	69795188	69795188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatccggtcccgagtgcGtggggcggacgtggctgcag	4	7	19	11	5	0	1	0	1	0	0	2	3	2	2	2	5	2	3	2	5	0	0	rs61748871	byFrequency	TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:69795188G>A	uc001xlb.2	+	5	917	c.590G>A	c.(589-591)cGt>cAt	p.R197H	GALNTL1_uc001xla.2_Missense_Mutation_p.R197H|GALNTL1_uc010aqu.2_Missense_Mutation_p.R197H	NM_020692	NP_065743	Q8N428	GLTL1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 1 (GALNTL1), transcript variant 2, mRNA.	197	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|stomach(2)	24				all cancers(60;0.00793)|BRCA - Breast invasive adenocarcinoma(234;0.0174)|OV - Ovarian serous cystadenocarcinoma(108;0.0656)		TCCCGAGTGCGTGGGGCGGAC	0.632													A	69795188	G	A	69795188	3	1	190	1	0	0	0	0	1	0	0	0	6275	1145	40	1	612	1	GALNTL1	14	69795188	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	48742918	69795188	37554352	80	13184											
FBLN5	10516	broad.mit.edu	37	chr14	92343924	92343924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttgcatttggaagatGtcagcgggaacggagcgtcc	8	9	16	8	3	1	1	1	0	0	1	2	4	2	4	1	4	4	2	1	4	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:92343924G>A	uc010aue.3	-	10	1688	c.1215C>T	c.(1213-1215)gaC>gaT	p.D405D	FBLN5_uc010aud.3_Silent_p.D369D|FBLN5_uc001xzx.4_Silent_p.D364D|FBLN5_uc001xzw.3_5'Flank	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	364					cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TTTGGAAGATGTCAGCGGGAA	0.537													A	92343924	G	A	92343924	2	1	190	1	0	0	0	0	0	0	0	1	5749	1368	48	2		2	FBLN5	14	92343924	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	22548736	92343924	15005616	81	13185											
PAPOLA	10914	broad.mit.edu	37	chr14	96991694	96991694	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaggaaaaatttttacAtttggatcttacagattagg	13	15	10	3	0	1	1	0	0	1	1	1	4	1	4	0	4	2	1	0	4	5	7			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:96991694A>G	uc001yfq.3	+	3	514	c.297A>G	c.(295-297)acA>acG	p.T99T	PAPOLA_uc001yfp.3_Silent_p.T99T|PAPOLA_uc001yfo.3_Silent_p.T99T|PAPOLA_uc001yfr.3_Silent_p.T99T|PAPOLA_uc010twv.2_Silent_p.T99T|PAPOLA_uc010avp.3_5'UTR	NM_032632	NP_116021	P51003	PAPOA_HUMAN	Homo sapiens poly(A) polymerase alpha (PAPOLA), transcript variant 1, mRNA.	99					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		AAATTTTTACATTTGGATCTT	0.323													G	96991694	A	G	96991694	2	3	190	1	0	0	0	0	0	0	0	1	11505	204	8	3		3	PAPOLA	14	96991694	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	4647770	96991694	10357846	82	13186											
KIF26A	26153	broad.mit.edu	37	chr14	104642036	104642036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaagagcctgggggaGggggcactgatggagtggca	9	4	19	9	0	0	3	0	1	0	2	0	5	0	5	3	6	1	2	3	6	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr14:104642036G>T	uc001yos.4	+	11	2911	c.2911G>T	c.(2911-2913)Ggg>Tgg	p.G971W		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	971					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GCCTGGGGGAGGGGGCACTGA	0.701													T	104642036	G	T	104642036	3	4	190	1	0	0	0	0	1	0	0	0	8352	1000	35	4	2957	4	KIF26A	14	104642036	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	7650342	104642036	2707504	83	13187											
TUBGCP5	114791	broad.mit.edu	37	chr15	22868917	22868917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaattgattaaaattcActataggtatctgtcaacca	16	13	5	7	0	4	2	3	1	1	1	4	2	4	2	1	1	1	1	1	1	7	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:22868917A>G	uc001yuq.2	+	19	2919	c.2789A>G	c.(2788-2790)cAc>cGc	p.H930R	TUBGCP5_uc001yur.4_Missense_Mutation_p.H930R	NM_001102610	NP_001096080	Q96RT8	GCP5_HUMAN	Homo sapiens tubulin, gamma complex associated protein 5 (TUBGCP5), transcript variant 2, mRNA.	930					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ATTAAAATTCACTATAGGTAT	0.453													G	22868917	A	G	22868917	3	3	190	1	0	0	0	0	1	0	0	0	16871	159	6	3	2867	3	TUBGCP5	15	22868917	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08		22868917	79662475	84	13188											
C15orf2	23742	broad.mit.edu	37	chr15	24922713	24922713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcatctgcccacctaaccTcacagactgcggtagaccct	10	7	7	17	2	2	2	1	0	1	2	2	2	2	2	4	1	3	2	4	1	2	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:24922713T>C	uc001ywo.3	+	0	2173	c.1699T>C	c.(1699-1701)Tca>Cca	p.S567P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	567					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CCACCTAACCTCACAGACTGC	0.488													C	24922713	T	C	24922713	3	2	190	1	0	0	0	0	1	0	0	0	1797	1551	54	3	1701	3	C15orf2	15	24922713	Missense_Mutation	SNP	T	TCGA-27-1838-01A-01D-1494-08	2053796	24922713	77608679	85	13189											
RPAP1	26015	broad.mit.edu	37	chr15	41810311	41810311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccagtaaccagggtccGgaagtagagctgaaggaggg	12	4	16	9	2	0	2	0	1	0	1	1	4	1	4	3	4	2	4	3	4	4	2	rs141969064		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:41810311G>A	uc001zod.3	-	22	3989	c.3865C>T	c.(3865-3867)Cgg>Tgg	p.R1289W		NM_015540	NP_056355	Q9BWH6	RPAP1_HUMAN	Homo sapiens RNA polymerase II associated protein 1 (RPAP1), mRNA.	1289						nucleus	DNA binding|DNA-directed RNA polymerase activity			NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	45		all_cancers(109;6.59e-20)|all_epithelial(112;7.67e-17)|Lung NSC(122;5.34e-11)|all_lung(180;4.17e-10)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		OV - Ovarian serous cystadenocarcinoma(18;2.84e-17)|GBM - Glioblastoma multiforme(113;1.68e-06)|Colorectal(105;0.0163)|BRCA - Breast invasive adenocarcinoma(123;0.117)		ACCAGGGTCCGGAAGTAGAGC	0.582													A	41810311	G	A	41810311	3	1	190	1	0	0	0	0	1	0	0	0	13632	1115	39	1	328	1	RPAP1	15	41810311	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	16887598	41810311	60721081	86	13190											
DUOX2	50506	broad.mit.edu	37	chr15	45387648	45387648	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccttcttacacagcAtttggctgcccaaggatgac	9	11	8	13	0	2	1	1	1	1	0	2	2	2	2	2	2	4	3	2	2	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr15:45387648A>C	uc001zun.3	-	30	4429	c.4226T>G	c.(4225-4227)aTg>aGg	p.M1409R	DUOX2_uc010bea.3_Missense_Mutation_p.M1409R	NM_014080	NP_054799	Q9NRD8	DUOX2_HUMAN	Homo sapiens dual oxidase 2 (DUOX2), mRNA.	1409					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTACACAGCATTTGGCTGCC	0.532													C	45387648	A	C	45387648	3	2	190	1	0	0	0	0	1	0	0	0	4840	217	8	5	436	5	DUOX2	15	45387648	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	3577337	45387648	57143744	87	13191											
ZNF263	10127	broad.mit.edu	37	chr16	3339694	3339694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcaaacctaattaggcaCcagagaatacatgcagctga	17	7	7	10	0	1	2	1	1	0	1	1	3	1	2	2	1	5	3	2	1	6	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:3339694C>A	uc002cuq.3	+	5	1520	c.1188C>A	c.(1186-1188)caC>caA	p.H396Q	ZNF263_uc010uww.2_Missense_Mutation_p.H44Q|ZNF263_uc002cur.2_Missense_Mutation_p.H44Q	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	396					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						TAATTAGGCACCAGAGAATAC	0.478													A	3339694	C	A	3339694	3	1	190	1	0	0	0	0	1	0	0	0	17904	506	18	4	1210	4	ZNF263	16	3339694	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		3339694	87015059	88	13192											
ATF7IP2	80063	broad.mit.edu	37	chr16	10525310	10525310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacttgacactaataacaAcagtaagtatatacttatgc	17	12	4	8	0	1	1	1	1	0	0	1	1	1	1	0	0	4	2	0	0	8	8			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:10525310A>G	uc002czw.3	+	1	992	c.833A>G	c.(832-834)aAc>aGc	p.N278S	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.N278S|ATF7IP2_uc002czv.3_Missense_Mutation_p.N278S|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						ACTAATAACAACAGTAAGTAT	0.313													G	10525310	A	G	10525310	3	3	190	1	0	0	0	0	1	0	0	0	1093	43	2	3	835	3	ATF7IP2	16	10525310	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	7185616	10525310	79829443	89	13193											
AQP8	343	broad.mit.edu	37	chr16	25232824	25232824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcagccatgctgatcGgaggcctcaacctggtgatg	7	8	13	13	1	1	2	1	2	0	0	2	3	1	3	4	4	3	2	4	4	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr16:25232824G>A	uc002doc.3	+	2	389	c.307G>A	c.(307-309)Gga>Aga	p.G103R		NM_001169	NP_001160	O94778	AQP8_HUMAN	Homo sapiens aquaporin 8 (AQP8), mRNA.	103					cellular response to cAMP	integral to plasma membrane	water channel activity			NS(1)|breast(1)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	16				GBM - Glioblastoma multiforme(48;0.044)		CATGCTGATCGGAGGCCTCAA	0.627													A	25232824	G	A	25232824	3	1	190	1	0	0	0	0	1	0	0	0	835	1117	39	1	317	1	AQP8	16	25232824	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	14707514	25232824	65121929	90	13194											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577114C>T	uc002gim.2	-	7	1018	c.824G>A	c.(823-825)tGt>tAt	p.C275Y	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.C275Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C143Y|TP53_uc010cnf.1_Missense_Mutation_p.C143Y|TP53_uc002gii.1_Missense_Mutation_p.C143Y|TP53_uc010cni.1_Missense_Mutation_p.C275Y|TP53_uc010cnh.1_Missense_Mutation_p.C275Y|TP53_uc002gij.2_Missense_Mutation_p.C275Y|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 LFS; 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.C275Y(106)|p.C275F(72)|p.V274F(19)|p.V274A(16)|p.V274L(10)|p.C275R(8)|p.V274D(8)|p.0?(8)|p.C275G(7)|p.C275W(7)|p.V274G(7)|p.C275fs*70(6)|p.C275C(4)|p.C275S(4)|p.V274I(4)|p.V274V(3)|p.R273_C275delRVC(2)|p.V274_P278del(2)|p.C275fs*31(2)|p.F270_D281del12(2)|p.C275_R283delCACPGRDRR(2)|p.?(2)|p.L265_K305del41(2)|p.C275fs*67(2)|p.V272_K292del21(2)|p.C275fs*20(2)|p.V274fs*71(1)|p.C275_A276ins10(1)|p.C275*(1)|p.S269fs*21(1)|p.A276fs*29(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)		AGGACAGGCACAAACACGCAC	0.552		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)			T	7577114	C	T	7577114	3	4	190	1	0	0	0	0	1	0	0	0	16482	478	17	2	462	2	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		7577114	73618096	91	13195											
TP53	7157	broad.mit.edu	37	chr17	7577610	7577610	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	15	5	10	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:7577610T>C	uc002gim.2	-	7	867	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	225	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		AGAGCCAACCTAGGAGATAAC	0.522		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)			C	7577610	T	C	7577610	5	2	190	1	0	0	0	0	0	0	1	0	16482	1536	53	3	619	3	TP53	17	7577610	Splice_Site	SNP	T	TCGA-27-1838-01A-01D-1494-08	496	7577610	73617600	92	13196											
CCDC42	146849	broad.mit.edu	37	chr17	8644917	8644917	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgcttggtcagctcctGcatgtgctggcacttgagtt	4	14	12	11	1	1	1	1	1	0	0	2	1	2	1	1	2	4	6	1	2	0	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:8644917G>A	uc002gln.3	-	3	594	c.367C>T	c.(367-369)Cag>Tag	p.Q123*	CCDC42_uc002glo.3_Nonsense_Mutation_p.Q123*	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	123										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTCAGCTCCTGCATGTGCTGG	0.602													A	8644917	G	A	8644917	4	1	190	1	0	0	0	0	0	1	0	0	2841	1328	46	2	599	2	CCDC42	17	8644917	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	1067307	8644917	72550293	93	13197											
DNAH9	1770	broad.mit.edu	37	chr17	11568211	11568211	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagacttatgttaactCtattgacaatttgttgctga	11	16	8	6	0	1	3	0	2	1	1	1	4	1	4	0	1	2	3	0	1	5	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:11568211C>A	uc002gne.3	+	14	2725	c.2657C>A	c.(2656-2658)tCt>tAt	p.S886Y	DNAH9_uc010coo.3_Missense_Mutation_p.S180Y	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	886	Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATGTTAACTCTATTGACAAT	0.383													A	11568211	C	A	11568211	3	1	190	1	0	0	0	0	1	0	0	0	4647	913	32	4	2715	4	DNAH9	17	11568211	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	2923294	11568211	69626999	94	13198											
DHX58	79132	broad.mit.edu	37	chr17	40263362	40263362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctggtcagtgccatctGcagaagctctgctgtgcaga	7	9	15	10	0	3	2	1	0	2	2	3	2	3	2	1	3	5	5	1	3	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:40263362G>T	uc002hyw.3	-	3	545	c.322C>A	c.(322-324)Cag>Aag	p.Q108K	DHX58_uc002hyv.3_Intron|DHX58_uc010wgf.1_Missense_Mutation_p.Q101K	NM_024119	NP_077024	Q96C10	DHX58_HUMAN	Homo sapiens DEXH (Asp-Glu-X-His) box polypeptide 58 (DHX58), mRNA.	108	Helicase ATP-binding.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGTGCCATCTGCAGAAGCTCT	0.622													T	40263362	G	T	40263362	3	4	190	1	0	0	0	0	1	0	0	0	4553	1328	46	4	1758	4	DHX58	17	40263362	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	28695151	40263362	40931848	95	13199											
HEATR6	63897	broad.mit.edu	37	chr17	58137429	58137429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagccttccaagatggcaGataaaacttgcagagcacag	14	8	10	9	0	0	4	0	1	0	3	1	4	1	4	2	1	4	3	2	1	3	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:58137429G>C	uc002iyk.1	-	9	1462	c.1445C>G	c.(1444-1446)tCt>tGt	p.S482C	HEATR6_uc010ddk.1_Missense_Mutation_p.S21C|HEATR6_uc010wos.1_Missense_Mutation_p.S314C	NM_022070	NP_071353	Q6AI08	HEAT6_HUMAN	Homo sapiens HEAT repeat containing 6 (HEATR6), mRNA.	482							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			CAAGATGGCAGATAAAACTTG	0.433													C	58137429	G	C	58137429	3	2	190	1	0	0	0	0	1	0	0	0	7088	942	33	4	2144	4	HEATR6	17	58137429	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	17874067	58137429	23057781	96	13200											
KCNJ16	3773	broad.mit.edu	37	chr17	68128948	68128948	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatttaaagacctcaaattAgtcaacgaccaaatcatcct	16	10	4	11	1	3	1	3	0	0	1	4	2	4	1	3	0	1	1	3	0	6	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr17:68128948A>T	uc002jiq.3	+	2	956	c.816A>T	c.(814-816)ttA>ttT	p.L272F	KCNJ16_uc002jin.3_Missense_Mutation_p.L240F|KCNJ16_uc002jio.3_Missense_Mutation_p.L240F|KCNJ16_uc002jip.3_Missense_Mutation_p.L240F|KCNJ16_uc021uch.1_Missense_Mutation_p.L240F	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	240					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					ACCTCAAATTAGTCAACGACC	0.483													T	68128948	A	T	68128948	3	4	190	1	0	0	0	0	1	0	0	0	8108	417	15	5	722	5	KCNJ16	17	68128948	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	9991519	68128948	13066262	97	13201											
SMCHD1	23347	broad.mit.edu	37	chr18	2688412	2688412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcattcaggatatgttcGtccagtaccagtgccacgca	10	11	9	11	2	2	1	2	1	0	0	4	2	3	2	3	1	2	3	3	1	2	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:2688412G>A	uc002klm.4	+	5	848	c.659G>A	c.(658-660)cGt>cAt	p.R220H		NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	220					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GGATATGTTCGTCCAGTACCA	0.368													A	2688412	G	A	2688412	3	1	190	1	0	0	0	0	1	0	0	0	14882	1145	40	1	681	1	SMCHD1	18	2688412	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		2688412	75388836	98	13202											
DSG4	147409	broad.mit.edu	37	chr18	28993484	28993484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcccataggccaaaccGttggctccacatcccccatg	9	8	6	18	1	0	0	0	0	0	0	3	0	3	0	7	2	1	2	7	2	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:28993484G>A	uc002kwr.2	+	14	3241	c.3106G>A	c.(3106-3108)Gtt>Att	p.V1036I	DSG4_uc002kwq.2_Missense_Mutation_p.V1017I	NM_001134453	NP_001127925	Q86SJ6	DSG4_HUMAN	Homo sapiens desmoglein 4 (DSG4), transcript variant 1, mRNA.	1017					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AGGCCAAACCGTTGGCTCCAC	0.453													A	28993484	G	A	28993484	3	1	190	1	0	0	0	0	1	0	0	0	4818	1145	40	1	3232	1	DSG4	18	28993484	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	26305072	28993484	49083764	99	13203											
CDH19	28513	broad.mit.edu	37	chr18	64218401	64218401	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacttgttgttccagacaaCgctcctggctgaccaatcat	10	11	7	13	1	1	2	1	1	0	1	3	2	3	2	3	1	1	4	3	1	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr18:64218401C>T	uc002lkc.1	-	4	843	c.705G>A	c.(703-705)gcG>gcA	p.A235A	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Silent_p.A235A|CDH19_uc002lkd.3_Silent_p.A235A	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	235	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTCCAGACAACGCTCCTGGCT	0.328													T	64218401	C	T	64218401	2	4	190	1	0	0	0	0	0	0	0	1	3134	523	19	1		1	CDH19	18	64218401	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	35224917	64218401	13858847	100	13204											
FBN3	84467	broad.mit.edu	37	chr19	8191373	8191373	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatctcgcagcgttcgcaggGgctcccccaggctgccccga	5	6	13	17	4	1	0	0	0	1	0	4	2	2	0	4	3	2	5	4	3	0	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:8191373G>C	uc002mjf.3	-	18	2550	c.2533C>G	c.(2533-2535)Ccc>Gcc	p.P845A		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	845	TB 4.					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						CGTTCGCAGGGGCTCCCCCAG	0.667													C	8191373	G	C	8191373	3	2	190	1	0	0	0	0	1	0	0	0	5753	1232	43	4	6076	4	FBN3	19	8191373	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		8191373	50937610	101	13205											
TNPO2	30000	broad.mit.edu	37	chr19	12825902	12825902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgagcctgtcaatccGcacttccagaagcatcacca	11	7	10	13	1	2	2	2	1	0	1	4	3	4	3	4	2	2	2	4	2	2	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:12825902G>A	uc002mup.3	-	6	1468	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	TNPO2_uc002muq.3_Missense_Mutation_p.R244W|TNPO2_uc002muo.3_Missense_Mutation_p.R244W|TNPO2_uc002mur.3_Missense_Mutation_p.R244W	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	244					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R336C(1)|p.R336H(1)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTCAATCCGCACTTCCAGA	0.632													A	12825902	G	A	12825902	3	1	190	1	0	0	0	0	1	0	0	0	16436	1086	38	1	2031	1	TNPO2	19	12825902	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	4634529	12825902	46303081	102	13206											
ZNF17	7565	broad.mit.edu	37	chr19	57931383	57931383	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggtggaagccacacAgggacactcatggtgtggag	11	6	16	8	0	1	0	1	0	0	0	1	3	1	3	1	5	1	0	1	5	1	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr19:57931383A>G	uc002qop.1	+	3	795	c.529A>G	c.(529-531)Agg>Ggg	p.R177G	ZNF17_uc021vck.1_Missense_Mutation_p.R168G|ZNF17_uc002qoo.1_Missense_Mutation_p.R175G	NM_006959	NP_008890	P17021	ZNF17_HUMAN	Homo sapiens zinc finger protein 17 (ZNF17), mRNA.	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		GAAGCCACACAGGGACACTCA	0.488													G	57931383	A	G	57931383	3	3	190	1	0	0	0	0	1	0	0	0	17844	179	7	3	533	3	ZNF17	19	57931383	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	45105481	57931383	1197600	103	13207											
ANGPT4	51378	broad.mit.edu	37	chr20	870858	870858	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagtcaccctctgttacctGagcctccatgtcggtcagct	6	12	8	15	1	4	1	3	1	1	0	6	1	5	1	4	1	3	2	4	1	1	1			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:870858G>A	uc002wei.3	-	1	566	c.463C>T	c.(463-465)Cag>Tag	p.Q155*	ANGPT4_uc010zpn.2_Nonsense_Mutation_p.Q149*	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	155					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TCTGTTACCTGAGCCTCCATG	0.607													A	870858	G	A	870858	4	1	190	1	0	0	0	0	0	1	0	0	612	1299	45	2	1080	2	ANGPT4	20	870858	Nonsense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08		870858	62154662	104	13208											
SIRPA	140885	broad.mit.edu	37	chr20	1915375	1915375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaggttgcatgagcccgAgaagaatgccagagaaataa	15	9	11	6	1	0	4	0	1	0	3	0	6	0	4	2	1	3	2	2	1	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:1915375A>T	uc002wfq.3	+	7	1601	c.1241A>T	c.(1240-1242)gAg>gTg	p.E414V	SIRPA_uc010zps.2_Missense_Mutation_p.E394V|SIRPA_uc002wfr.3_Missense_Mutation_p.E414V|SIRPA_uc002wfs.3_Missense_Mutation_p.E414V|SIRPA_uc002wft.3_Missense_Mutation_p.E414V	NM_001040022	NP_542970	P78324	SHPS1_HUMAN	Homo sapiens signal-regulatory protein alpha (SIRPA), transcript variant 1, mRNA.	414					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding	p.E414*(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		CATGAGCCCGAGAAGAATGCC	0.448													T	1915375	A	T	1915375	3	4	190	1	0	0	0	0	1	0	0	0	14426	304	11	5	1267	5	SIRPA	20	1915375	Missense_Mutation	SNP	A	TCGA-27-1838-01A-01D-1494-08	1044517	1915375	61110145	105	13209											
PTPRT	11122	broad.mit.edu	37	chr20	41385120	41385120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttcacgatcagctccgCgtagttggacacaccagacc	10	8	8	15	3	2	1	2	0	0	1	3	3	3	2	4	1	1	3	4	1	1	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chr20:41385120C>T	uc002xkg.3	-	5	1025	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	PTPRT_uc010ggj.3_Missense_Mutation_p.A281T	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	281	Ig-like C2-type.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.A281V(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATCAGCTCCGCGTAGTTGGAC	0.567													T	41385120	C	T	41385120	3	4	190	1	0	0	0	0	1	0	0	0	12900	768	27	1	3649	1	PTPRT	20	41385120	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	39469745	41385120	21640400	106	13210											
MXRA5	25878	broad.mit.edu	37	chrX	3235331	3235331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgcaccgtcctgcgcgCggagcctaccaggttggcgg	5	6	15	15	5	0	0	0	0	0	0	1	1	1	1	4	4	5	3	4	4	1	2			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:3235331C>T	uc004crg.4	-	5	6548	c.6391G>A	c.(6391-6393)Gcg>Acg	p.A2131T		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2131	Ig-like C2-type 5.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCTGCGCGCGGAGCCTACC	0.662													T	3235331	C	T	3235331	3	4	190	1	0	0	0	0	1	0	0	0	10079	768	27	1	2103	1	MXRA5	23	3235331	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08		3235331	152035229	107	13211											
MAGEB6	158809	broad.mit.edu	37	chrX	26212996	26212996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagataagtacgtggtttacCggcaggtgtgcaacagtgat	12	10	13	6	2	0	2	0	1	0	1	0	2	0	2	1	3	4	4	1	3	5	4			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:26212996C>T	uc022buc.1	+	0	1033	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	MAGEB6_uc004dbr.3_Missense_Mutation_p.R345W	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	345	MAGE.							p.R345W(2)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGTGGTTTACCGGCAGGTGTG	0.498													T	26212996	C	T	26212996	3	4	190	1	0	0	0	0	1	0	0	0	9254	643	23	1	1035	1	MAGEB6	23	26212996	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	22977665	26212996	129057564	108	13212											
USP9X	8239	broad.mit.edu	37	chrX	41075579	41075579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaaatgaaaaaccagtGttttggtggagagtacatgg	15	9	13	4	1	0	3	0	1	0	2	0	5	0	3	1	3	2	2	1	3	5	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:41075579G>C	uc004dfb.3	+	34	6392	c.5759G>C	c.(5758-5760)tGt>tCt	p.C1920S	USP9X_uc004dfc.3_Missense_Mutation_p.C1920S	NM_001039590	NP_001034679	Q93008	USP9X_HUMAN	Homo sapiens ubiquitin specific peptidase 9, X-linked (USP9X), transcript variant 3, mRNA.	1920					BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AAAAACCAGTGTTTTGGTGGA	0.388													C	41075579	G	C	41075579	3	2	190	1	0	0	0	0	1	0	0	0	17192	1377	48	4	5893	4	USP9X	23	41075579	Missense_Mutation	SNP	G	TCGA-27-1838-01A-01D-1494-08	14862583	41075579	114194981	109	13213											
SLC9A7	84679	broad.mit.edu	37	chrX	46491045	46491047	+	In_Frame_Del	DEL	GTT	GTT	-																															tgtaagacttgaaagctgtcGttgttgggtggtgggtcttg																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:46491045_46491047delGTT	uc004dgu.1	-	13	1719_1721	c.1711_1713delAAC	c.(1711-1713)aacdel	p.N571del		NM_032591	NP_115980	Q96T83	SL9A7_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 7 (SLC9A7), mRNA.	571					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						GAAAGCTGTCGTTGTTGGGTGGT	0.483													-	46491047	GTT	-	46491045	7	5	190	1	0	1	0	1	0	0	0	0	14813	1136	40	0	480	0	SLC9A7	23	46491045	In_Frame_Del	DEL	GTT	TCGA-27-1838-01A-01D-1494-08	5415466	46491045	108779515	110	13214											
SSX7	280658	broad.mit.edu	37	chrX	52677324	52677324	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttaccggatgtcttgttAatcttctcagaggtacttgg	7	16	9	9	1	4	1	1	0	4	1	5	2	4	2	1	3	2	2	1	3	3	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:52677324A>G	uc004dqx.1	-	5	612	c.453T>C	c.(451-453)atT>atC	p.I151I		NM_173358	NP_775494	Q7RTT5	SSX7_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 7 (SSX7), mRNA.	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					ATGTCTTGTTAATCTTCTCAG	0.512													G	52677324	A	G	52677324	2	3	190	1	0	0	0	0	0	0	0	1	15305	358	13	3		3	SSX7	23	52677324	Silent	SNP	A	TCGA-27-1838-01A-01D-1494-08	6186279	52677324	102593236	111	13215											
KIAA2022	340533	broad.mit.edu	37	chrX	73963402	73963402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgaattgggcatcttcCtgcatcaaaagagtagtctt	12	13	9	7	0	3	2	1	1	2	1	4	2	4	2	1	1	1	4	1	1	5	5			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:73963402C>T	uc004eby.3	-	2	1607	c.990G>A	c.(988-990)caG>caA	p.Q330Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	330					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GGGCATCTTCCTGCATCAAAA	0.448													T	73963402	C	T	73963402	2	4	190	1	0	0	0	0	0	0	0	1	8327	680	24	2		2	KIAA2022	23	73963402	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	21286078	73963402	81307158	112	13216											
PAK3	5063	broad.mit.edu	37	chrX	110406206	110406208	+	In_Frame_Del	DEL	GAA	GAA	-																															ctgaagaagaagatgaagagGaagaagaagaagaagatgaa																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:110406206_110406208delGAA	uc010npv.1	+	6	667_669	c.640_642delGAA	c.(640-642)gaadel	p.E218del	PAK3_uc010npt.1_In_Frame_Del_p.E182del|PAK3_uc010npu.1_In_Frame_Del_p.E182del|PAK3_uc004eoy.1_5'UTR|PAK3_uc004eoz.2_In_Frame_Del_p.E182del|PAK3_uc011mst.1_Non-coding_Transcript|PAK3_uc010npw.1_In_Frame_Del_p.E203del|PAK3_uc004epa.2_In_Frame_Del_p.E197del	NM_001128168	NP_001121640	O75914	PAK3_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 3 (PAK3), transcript variant 4, mRNA.	197	Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agatgaagaggaagaagaagaag	0.394										TSP Lung(19;0.15)			-	110406208	GAA	-	110406206	7	5	190	1	0	1	0	1	0	0	0	0	11478	1175	41	0	666	0	PAK3	23	110406206	In_Frame_Del	DEL	GAA	TCGA-27-1838-01A-01D-1494-08	36442804	110406206	44864354	113	13217											
KIAA1210	57481	broad.mit.edu	37	chrX	118220581	118220581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgttgcttatctgcaaCgtaagatattttggtgaggt	8	16	11	6	1	2	2	0	1	2	1	2	2	2	2	0	2	3	5	0	2	4	6			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:118220581C>T	uc004era.4	-	10	4612	c.4612G>A	c.(4612-4614)Gtt>Att	p.V1538I		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	1538										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						TTATCTGCAACGTAAGATATT	0.507													T	118220581	C	T	118220581	3	4	190	1	0	0	0	0	1	0	0	0	8272	536	19	1	533	1	KIAA1210	23	118220581	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	7814375	118220581	37049979	114	13218											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686304	125686304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgcgaacaccttgttgacCgtgcccagctccagttggcg	7	8	12	14	4	0	1	0	1	0	0	1	3	1	1	4	1	3	3	4	1	1	3	rs141018282		TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:125686304C>T	uc022cds.1	-	0	288	c.288G>A	c.(286-288)acG>acA	p.T96T	DCAF12L1_uc004eul.3_Silent_p.T96T	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	96								p.T96R(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CCTTGTTGACCGTGCCCAGCT	0.657													T	125686304	C	T	125686304	2	4	190	1	0	0	0	0	0	0	0	1	4298	639	23	1		1	DCAF12L1	23	125686304	Silent	SNP	C	TCGA-27-1838-01A-01D-1494-08	7465723	125686304	29584256	115	13219											
USP26	83844	broad.mit.edu	37	chrX	132160788	132160788	+	Frame_Shift_Del	DEL	A	A	-																															tactcaagctcttctgctccAaaaaaaagatcaaaagtaga																										TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:132160788delA	uc011mvf.2	-	0	1513	c.1461delT	c.(1459-1461)tttfs	p.F487fs	USP26_uc010nrm.1_Frame_Shift_Del_p.F487fs	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	487					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F487fs*7(2)|p.G488fs*6(2)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CTTCTGCTCCAAAAAAAAGAT	0.383													-	132160788	A	-	132160788	7	5	190	1	0	1	0	1	0	0	0	0	17159	127	5	0	1283	0	USP26	23	132160788	Frame_Shift_Del	DEL	A	TCGA-27-1838-01A-01D-1494-08	6474484	132160788	23109772	116	13220											
MAGEA10	4109	broad.mit.edu	37	chrX	151303934	151303934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaagaggaggaggaGggaaaagaggatggaaaaga	19	1	21	0	0	0	3	0	0	0	3	0	12	0	11	0	8	0	0	0	8	5	0			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:151303934G>A	uc022cgz.1	-	0	159	c.159C>T	c.(157-159)ccC>ccT	p.P53P	MAGEA5_uc022cgy.1_Intron|MAGEA10_uc004ffk.3_Silent_p.P53P|MAGEA10_uc004ffm.2_Silent_p.P53P|MAGEA10_uc004ffl.3_Silent_p.P53P	NM_021048	NP_066386	P43363	MAGAA_HUMAN	Homo sapiens melanoma antigen family A, 10 (MAGEA10), transcript variant 2, mRNA.	53										endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					aggaggaggagggaaaagagg	0.562													A	151303934	G	A	151303934	2	1	190	1	0	0	0	0	0	0	0	1	9235	987	35	2		2	MAGEA10	23	151303934	Silent	SNP	G	TCGA-27-1838-01A-01D-1494-08	19143146	151303934	3966626	117	13221											
RENBP	5973	broad.mit.edu	37	chrX	153209567	153209567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacatacttgaggtcatCatacacccgcccctcgcggc	9	7	7	18	3	2	1	2	1	0	0	3	1	2	1	4	2	2	0	4	2	2	3			TCGA-27-1838-01A-01D-1494-08	TCGA-27-1838-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	881af1d2-3fbc-44dd-8362-e6c386345cf6	d3e925a1-2c02-4722-a862-78d17ef59052	g.chrX:153209567C>A	uc004fjo.2	-	2	348	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	RENBP_uc011mzh.1_Missense_Mutation_p.D60Y	NM_002910	NP_002901	P51606	RENBP_HUMAN	Homo sapiens renin binding protein (RENBP), mRNA.	60					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TTGAGGTCATCATACACCCGC	0.632													A	153209567	C	A	153209567	3	1	190	1	0	0	0	0	1	0	0	0	13313	826	29	4	1141	4	RENBP	23	153209567	Missense_Mutation	SNP	C	TCGA-27-1838-01A-01D-1494-08	1905633	153209567	2060993	118	13222											
LOC649330	649330	broad.mit.edu	37	chr1	12907821	12907821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatagtccaagtcaaaagAggagccgtacatctccgctg	12	7	10	12	2	2	1	1	0	1	1	4	2	3	2	4	1	2	2	4	1	5	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:12907821A>T	uc010obf.2	-	1	548	c.322T>A	c.(322-324)Tct>Act	p.S108T	LOC649330_uc009vno.2_Missense_Mutation_p.S108T	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	108							nucleic acid binding|nucleotide binding										AAGTCAAAAGAGGAGCCGTAC	0.493													T	12907821	A	T	12907821	3	4	191	1	0	0	0	0	1	0	0	0	8953	304	11	5	563	5	LOC649330	1	12907821	Missense_Mutation	SNP	A	TCGA-27-2518-01A-01D-1494-08		12907821	236342800	1	13223											
HPCAL4	51440	broad.mit.edu	37	chr1	40150150	40150150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaaactcctccaggttgagGatgccgctggggcagtcctt	7	10	13	11	1	0	2	0	2	0	0	3	3	3	3	4	4	2	3	4	4	1	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:40150150G>A	uc001cdr.3	-	1	246	c.126C>T	c.(124-126)atC>atT	p.I42I	HPCAL4_uc010oix.2_Silent_p.I42I	NM_016257	NP_057341	Q9UM19	HPCL4_HUMAN	Homo sapiens hippocalcin like 4 (HPCAL4), mRNA.	42	EF-hand 1.				central nervous system development	intracellular	calcium ion binding			breast(1)|central_nervous_system(1)|lung(5)|stomach(1)	8	all_cancers(7;4.65e-13)|Lung NSC(20;2.88e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCAGGTTGAGGATGCCGCTGG	0.627													A	40150150	G	A	40150150	2	1	191	1	0	0	0	0	0	0	0	1	7386	1164	41	2		2	HPCAL4	1	40150150	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	27242329	40150150	209100471	2	13224											
ELTD1	64123	broad.mit.edu	37	chr1	79383365	79383365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaactccaaataaagttgTtttcggtgctaagccaacat	15	12	6	8	1	0	0	0	0	0	0	2	0	1	0	2	1	4	3	2	1	7	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:79383365T>C	uc001diq.4	-	11	1859	c.1703A>G	c.(1702-1704)aAc>aGc	p.N568S		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	568					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AATAAAGTTGTTTTCGGTGCT	0.279													C	79383365	T	C	79383365	3	2	191	1	0	0	0	0	1	0	0	0	5125	1725	60	3	385	3	ELTD1	1	79383365	Missense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	39233215	79383365	169867256	3	13225											
SLC26A9	115019	broad.mit.edu	37	chr1	205890886	205890886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaggtgatataggacacGctggtgccgttagccggggt	8	9	16	8	3	0	2	0	2	0	0	0	3	0	3	2	5	2	2	2	5	4	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:205890886G>A	uc001hdp.3	-	16	1977	c.1863C>T	c.(1861-1863)agC>agT	p.S621S	SLC26A9_uc001hdo.3_Silent_p.S289S|SLC26A9_uc001hdq.3_Silent_p.S621S	NM_134325	NP_599152	Q7LBE3	S26A9_HUMAN	Homo sapiens solute carrier family 26, member 9 (SLC26A9), transcript variant 2, mRNA.	621	STAS.					integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TATAGGACACGCTGGTGCCGT	0.642													A	205890886	G	A	205890886	2	1	191	1	0	0	0	0	0	0	0	1	14618	1078	38	1		1	SLC26A9	1	205890886	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	126507521	205890886	43359735	4	13226											
WDR64	128025	broad.mit.edu	37	chr1	241959665	241959665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaggtcatgttcaacGtgaaaaagtaagttagtact	15	10	12	4	1	2	1	2	1	0	0	2	3	2	2	0	2	2	4	0	2	7	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr1:241959665G>A	uc001hzg.2	+	25	3362	c.3155G>A	c.(3154-3156)cGt>cAt	p.R1052H	WDR64_uc021plh.1_Missense_Mutation_p.R679H|WDR64_uc021pli.1_Missense_Mutation_p.R605H	NM_144625	NP_653226	B1ANS9	WDR64_HUMAN	Homo sapiens WD repeat domain 64 (WDR64), mRNA.	1052										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			CATGTTCAACGTGAAAAAGTA	0.378													A	241959665	G	A	241959665	3	1	191	1	0	0	0	0	1	0	0	0	17417	1145	40	1	3257	1	WDR64	1	241959665	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	36068779	241959665	7290956	5	13227											
KLF11	8462	broad.mit.edu	37	chr2	10186413	10186413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagctcctggggtcaaaGatcccagaaaggtgacctgt	11	9	12	9	0	1	4	1	2	0	2	3	4	3	4	3	3	1	1	3	3	3	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:10186413G>T	uc002raf.1	+	1	341	c.179G>T	c.(178-180)aGa>aTa	p.R60I	KLF11_uc021vdq.1_Missense_Mutation_p.R43I|KLF11_uc010yjc.2_Missense_Mutation_p.R43I	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	60					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGGGGTCAAAGATCCCAGAAA	0.537													T	10186413	G	T	10186413	3	4	191	1	0	0	0	0	1	0	0	0	8397	942	33	4	185	4	KLF11	2	10186413	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		10186413	233012960	6	13228											
LAPTM4A	9741	broad.mit.edu	37	chr2	20240757	20240757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcagcaaaattgccaTcaataggtttactacctgga	14	10	7	10	0	2	0	2	0	0	0	2	1	2	1	2	2	4	2	2	2	6	5			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:20240757T>A	uc002rdm.3	-	1	635	c.127A>T	c.(127-129)Atg>Ttg	p.M43L	LAPTM4A_uc010yjx.2_Missense_Mutation_p.M43L	NM_014713	NP_055528	Q15012	LAP4A_HUMAN	Homo sapiens lysosomal protein transmembrane 4 alpha (LAPTM4A), mRNA.	43					transport	endomembrane system|Golgi apparatus|integral to membrane				endometrium(3)|kidney(1)|large_intestine(1)|ovary(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAAATTGCCATCAATAGGTTT	0.378													A	20240757	T	A	20240757	3	1	191	1	0	0	0	0	1	0	0	0	8683	1435	50	5	598	5	LAPTM4A	2	20240757	Missense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	10054344	20240757	222958616	7	13229											
PROM2	150696	broad.mit.edu	37	chr2	95947041	95947041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctcatcctcctggtgttCgccaccttcctggtgggtgg	2	12	11	16	1	1	0	1	0	0	0	5	0	4	0	7	4	0	1	7	4	0	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:95947041C>T	uc002suk.3	+	11	1612	c.1479C>T	c.(1477-1479)ttC>ttT	p.F493F	PROM2_uc002suh.2_Silent_p.F493F|PROM2_uc002sui.3_Silent_p.F493F|PROM2_uc002suj.3_Silent_p.F147F|PROM2_uc002sul.3_Silent_p.F19F|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	493						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TCCTGGTGTTCGCCACCTTCC	0.642													T	95947041	C	T	95947041	2	4	191	1	0	0	0	0	0	0	0	1	12642	883	31	1		1	PROM2	2	95947041	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	75706284	95947041	147252332	8	13230											
DPP10	57628	broad.mit.edu	37	chr2	116534868	116534868	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatacgatgaaactactCaaaaaatgtgagtgttttca	15	12	8	6	1	2	2	2	2	0	0	2	3	2	2	0	1	3	2	0	1	6	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:116534868C>A	uc002tle.3	+	13	1339	c.1318C>A	c.(1318-1320)Caa>Aaa	p.Q440K	DPP10_uc002tla.2_Missense_Mutation_p.Q436K|DPP10_uc002tlb.2_Missense_Mutation_p.Q386K|DPP10_uc002tlc.2_Missense_Mutation_p.Q432K|DPP10_uc002tlf.2_Missense_Mutation_p.Q429K	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	436					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TGAAACTACTCAAAAAATGTG	0.378													A	116534868	C	A	116534868	3	1	191	1	0	0	0	0	1	0	0	0	4766	827	29	4	1531	4	DPP10	2	116534868	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	20587827	116534868	126664505	9	13231											
SCN2A	6326	broad.mit.edu	37	chr2	166179852	166179852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcacagacatggagaaCggcgccacagcaatgtcagc	12	4	12	13	3	1	2	1	0	0	2	1	3	1	2	2	2	4	2	2	2	2	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:166179852C>T	uc002udc.3	+	11	2148	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	SCN2A_uc002udd.3_Missense_Mutation_p.R620W|SCN2A_uc002ude.3_Missense_Mutation_p.R620W	NM_001040142	NP_066287	Q99250	SCN2A_HUMAN	Homo sapiens sodium channel, voltage-gated, type II, alpha subunit (SCN2A), transcript variant 2, mRNA.	620					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ACATGGAGAACGGCGCCACAG	0.562													T	166179852	C	T	166179852	3	4	191	1	0	0	0	0	1	0	0	0	14009	527	19	1	1996	1	SCN2A	2	166179852	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	49644984	166179852	77019521	10	13232											
SPEG	10290	broad.mit.edu	37	chr2	220329174	220329174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagaaaccgccagcccGtgcgcccagaccagcggcgc	8	2	14	17	5	0	2	0	1	0	2	0	3	0	2	5	2	4	1	5	2	1	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:220329174G>A	uc010fwg.3	+	8	2725	c.2725G>A	c.(2725-2727)Gtg>Atg	p.V909M	SPEG_uc002vlm.3_Non-coding_Transcript|SPEG_uc010fwh.2_Missense_Mutation_p.V117M|SPEG_uc002vln.1_Missense_Mutation_p.V117M|SPEG_uc002vlp.1_Missense_Mutation_p.V117M|SPEG_uc002vlq.3_Missense_Mutation_p.V60M	NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	909	Ig-like 3.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCGCCAGCCCGTGCGCCCAGA	0.662													A	220329174	G	A	220329174	3	1	191	1	0	0	0	0	1	0	0	0	15132	1145	40	1	2759	1	SPEG	2	220329174	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	54149322	220329174	22870199	11	13233											
SPHKAP	80309	broad.mit.edu	37	chr2	228856023	228856023	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtcctttaagaatctTcttttcttctactaattcac	9	19	3	10	0	5	2	1	1	4	1	6	2	6	2	1	0	1	0	1	0	4	9			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr2:228856023T>A	uc002vpq.2	-	9	4788	c.4741A>T	c.(4741-4743)Aag>Tag	p.K1581*	SPHKAP_uc002vpp.2_Nonsense_Mutation_p.K1552*|SPHKAP_uc010zlx.1_Intron	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	1581						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TTAAGAATCTTCTTTTCTTCT	0.403													A	228856023	T	A	228856023	4	1	191	1	0	0	0	0	0	1	0	0	15144	1792	62	5	373	5	SPHKAP	2	228856023	Nonsense_Mutation	SNP	T	TCGA-27-2518-01A-01D-1494-08	8526849	228856023	14343350	12	13234											
IL5RA	3568	broad.mit.edu	37	chr3	3139660	3139660	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccctttgctgaggataaaAgtcctgggaaaccagcatgc	11	8	11	11	1	0	1	0	1	0	0	1	3	1	3	3	2	4	2	3	2	3	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:3139660A>C	uc011ask.2	-	7	1247	c.603T>G	c.(601-603)acT>acG	p.T201T	IL5RA_uc010hbq.3_Silent_p.T201T|IL5RA_uc010hbr.3_Intron|IL5RA_uc010hbs.3_Silent_p.T201T|IL5RA_uc011asl.2_Silent_p.T201T|IL5RA_uc011asm.1_Silent_p.T201T|IL5RA_uc010hbt.2_Silent_p.T201T|IL5RA_uc011asn.1_Silent_p.T201T|IL5RA_uc010hbu.2_Silent_p.T201T	NM_000564	NP_783853	Q01344	IL5RA_HUMAN	Homo sapiens interleukin 5 receptor, alpha (IL5RA), transcript variant 1, mRNA.	201					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		TGAGGATAAAAGTCCTGGGAA	0.493													C	3139660	A	C	3139660	2	2	191	1	0	0	0	0	0	0	0	1	7758	59	3	5		5	IL5RA	3	3139660	Silent	SNP	A	TCGA-27-2518-01A-01D-1494-08		3139660	194882770	13	13235											
FAM19A1	407738	broad.mit.edu	37	chr3	68466552	68466552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggaacaacaagaaacCggccttcttgcgtcgatggt	10	9	12	10	3	1	1	0	0	1	1	2	3	1	2	2	4	4	1	2	4	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:68466552C>T	uc003dnd.3	+	2	457	c.241C>T	c.(241-243)Cgg>Tgg	p.R81W	FAM19A1_uc003dne.3_Missense_Mutation_p.R81W|FAM19A1_uc003dng.3_Missense_Mutation_p.R81W	NM_001252216	NP_001239145	Q7Z5A9	F19A1_HUMAN	Homo sapiens family with sequence similarity 19 (chemokine (C-C motif)-like), member A1 (FAM19A1), transcript variant 2, mRNA.	81						endoplasmic reticulum|extracellular region		p.R81Q(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	7		Lung NSC(201;0.0117)		BRCA - Breast invasive adenocarcinoma(55;7.7e-05)|Epithelial(33;0.000937)|KIRC - Kidney renal clear cell carcinoma(39;0.0579)|Kidney(39;0.0743)		AACAAGAAACCGGCCTTCTTG	0.418													T	68466552	C	T	68466552	3	4	191	1	0	0	0	0	1	0	0	0	5578	643	23	1	247	1	FAM19A1	3	68466552	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	65326892	68466552	129555878	14	13236											
HPS3	84343	broad.mit.edu	37	chr3	148868422	148868422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgtgcggtgcagtgcGgcggcagctcgtgaggagga	6	8	18	9	4	1	1	1	1	0	0	2	3	1	3	0	5	4	3	0	5	0	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148868422G>A	uc003ewu.1	+	5	1340	c.1200G>A	c.(1198-1200)gcG>gcA	p.A400A	HPS3_uc011bnq.1_Silent_p.A235A|HPS3_uc021xfk.1_Silent_p.A293A	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	400						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GGTGCAGTGCGGCGGCAGCTC	0.532									Hermansky-Pudlak syndrome				A	148868422	G	A	148868422	2	1	191	1	0	0	0	0	0	0	0	1	7395	1103	39	1		1	HPS3	3	148868422	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	80401870	148868422	49154008	15	13237											
CP	1356	broad.mit.edu	37	chr3	148925268	148925268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcaatacggtagttcttGttagtcagtgcttgcccgtg	6	15	12	8	2	3	0	2	0	1	0	3	0	3	0	1	1	3	4	1	1	4	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:148925268G>T	uc003ewy.4	-	4	1171	c.918C>A	c.(916-918)aaC>aaA	p.N306K	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.N87K|CP_uc003ewz.3_Missense_Mutation_p.N306K|CP_uc010hvf.1_Missense_Mutation_p.N32K	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	306	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGTAGTTCTTGTTAGTCAGTG	0.458													T	148925268	G	T	148925268	3	4	191	1	0	0	0	0	1	0	0	0	3818	1368	48	4	2339	4	CP	3	148925268	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	56846	148925268	49097162	16	13238											
SAMD7	344658	broad.mit.edu	37	chr3	169654200	169654200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcatcttcgaggcactatggGattaaagctagggccggcac	10	8	13	10	2	1	0	0	0	1	0	2	2	1	1	1	4	1	4	1	4	4	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr3:169654200G>C	uc003fgd.3	+	7	1382	c.1115G>C	c.(1114-1116)gGa>gCa	p.G372A	SAMD7_uc003fge.3_Missense_Mutation_p.G372A|SAMD7_uc011bpo.2_Missense_Mutation_p.G273A	NM_182610	NP_872416	Q7Z3H4	SAMD7_HUMAN	Homo sapiens sterile alpha motif domain containing 7 (SAMD7), mRNA.	372	SAM.									NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			GGCACTATGGGATTAAAGCTA	0.343													C	169654200	G	C	169654200	3	2	191	1	0	0	0	0	1	0	0	0	13915	1174	41	4	1137	4	SAMD7	3	169654200	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	20728932	169654200	28368230	17	13239											
PCDHB12	56124	broad.mit.edu	37	chr5	140589502	140589502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaggtgatggatgtaaaCgacaacgctcctgaaatcac	14	9	9	9	2	2	2	2	2	0	0	3	4	3	3	1	2	2	2	1	2	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:140589502C>T	uc003liz.3	+	0	1212	c.1023C>T	c.(1021-1023)aaC>aaT	p.N341N	PCDHB12_uc011dak.2_Silent_p.N4N	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	341	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGATGTAAACGACAACGCTC	0.413													T	140589502	C	T	140589502	2	4	191	1	0	0	0	0	0	0	0	1	11613	535	19	1		1	PCDHB12	5	140589502	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		140589502	40325758	18	13240											
GFPT2	9945	broad.mit.edu	37	chr5	179731784	179731784	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccctcacctggcgggccgtGacttgctgcagggcgttctg	3	9	15	14	3	2	1	1	1	1	0	2	1	2	1	3	3	2	3	3	3	0	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731784G>A	uc003mlw.1	-	16	1928	c.1830C>T	c.(1828-1830)gtC>gtT	p.V610V		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	610	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	GGCGGGCCGTGACTTGCTGCA	0.592													A	179731784	G	A	179731784	2	1	191	1	0	0	0	0	0	0	0	1	6402	1277	45	2		2	GFPT2	5	179731784	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	39142282	179731784	1183476	19	13241											
GFPT2	9945	broad.mit.edu	37	chr5	179731922	179731922	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccttctgagtgcatgtaGgttatctctttaattttctg	7	19	8	7	0	3	1	0	1	3	0	4	1	3	1	1	1	2	3	1	1	3	7			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr5:179731922G>C	uc003mlw.1	-	16	1790	c.1692C>G	c.(1690-1692)acC>acG	p.T564T		NM_005110	NP_005101	O94808	GFPT2_HUMAN	Homo sapiens glutamine-fructose-6-phosphate transaminase 2 (GFPT2), mRNA.	564	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	AGTGCATGTAGGTTATCTCTT	0.537													C	179731922	G	C	179731922	2	2	191	1	0	0	0	0	0	0	0	1	6402	987	35	4		4	GFPT2	5	179731922	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	138	179731922	1183338	20	13242											
VARS2	57176	broad.mit.edu	37	chr6	30883807	30883807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtccctggttcagatcatGcaggaattgctacacaagta	11	10	11	9	0	2	1	2	0	0	1	3	2	3	2	1	3	3	4	1	3	4	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr6:30883807G>T	uc011dmz.2	+	5	727	c.646G>T	c.(646-648)Gca>Tca	p.A216S	VARS2_uc003nsc.2_Missense_Mutation_p.A186S|VARS2_uc003nsd.3_Missense_Mutation_p.A186S|VARS2_uc011dmx.2_Missense_Mutation_p.A186S|VARS2_uc011dmy.2_Missense_Mutation_p.A46S|VARS2_uc011dna.2_Missense_Mutation_p.A186S|VARS2_uc011dnb.2_Non-coding_Transcript|VARS2_uc011dnc.2_Non-coding_Transcript|VARS2_uc011dnd.2_5'Flank	NM_001167734	NP_001161205	Q5ST30	SYVM_HUMAN	Homo sapiens valyl-tRNA synthetase 2, mitochondrial (putative) (VARS2), transcript variant 1, mRNA.	186					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						TTCAGATCATGCAGGAATTGC	0.478													T	30883807	G	T	30883807	3	4	191	1	0	0	0	0	1	0	0	0	17226	1319	46	4	668	4	VARS2	6	30883807	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		30883807	140231260	21	13243											
CLCN1	1180	broad.mit.edu	37	chr7	143047569	143047569	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagacaaccctgcacaaGgtgagtcttttgctgactgc	10	9	11	11	0	1	3	0	2	1	1	1	4	1	3	1	1	5	3	1	1	2	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr7:143047569G>C	uc003wcr.1	+	21	2595	c.2508_splice	c.e21+1	p.K836_splice	CLCN1_uc011ktc.1_Splice_Site_p.K448_splice	NM_000083	NP_000074	P35523	CLCN1_HUMAN	Homo sapiens chloride channel 1, skeletal muscle (CLCN1), mRNA.	836	CBS 2.				muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CCCTGCACAAGGTGAGTCTTT	0.567													C	143047569	G	C	143047569	3	2	191	1	0	0	0	0	1	0	0	0	3493	1014	35	4	2590	4	CLCN1	7	143047569	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		143047569	16091094	22	13244											
WHSC1L1	54904	broad.mit.edu	37	chr8	38148069	38148069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacataagggaacactctGccctggtgtacccagtagta	12	9	9	11	0	2	0	1	0	1	0	2	1	2	1	2	2	4	3	2	2	6	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:38148069G>A	uc003xli.3	-	16	3560	c.3042C>T	c.(3040-3042)ggC>ggT	p.G1014G	WHSC1L1_uc011lbm.2_Silent_p.G1014G|WHSC1L1_uc010lwe.3_Silent_p.G965G	NM_023034	NP_075447	Q9BZ95	NSD3_HUMAN	Homo sapiens Wolf-Hirschhorn syndrome candidate 1-like 1 (WHSC1L1), transcript variant long, mRNA.	1014	PWWP 2.				cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GGAACACTCTGCCCTGGTGTA	0.463			T	NUP98	AML								A	38148069	G	A	38148069	2	1	191	1	0	0	0	0	0	0	0	1	17465	1306	46	2		2	WHSC1L1	8	38148069	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08		38148069	108215953	23	13245											
JPH1	56704	broad.mit.edu	37	chr8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcgagcggccagcgCggcctggtcggcggcatcgg	3	5	18	15	7	0	0	0	0	0	0	3	1	1	0	3	7	2	1	3	7	0	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:75171695C>T	uc003yae.3	-	2	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T	JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597													T	75171695	C	T	75171695	3	4	191	1	0	0	0	0	1	0	0	0	8018	768	27	1	814	1	JPH1	8	75171695	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	37023626	75171695	71192327	24	13246											
RALYL	138046	broad.mit.edu	37	chr8	85774546	85774546	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggttatttgattaccaCgggcgtgtgcctccacctcc	8	12	9	12	2	0	1	0	1	0	0	2	1	2	1	5	2	2	1	5	2	4	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr8:85774546C>T	uc003yct.4	+	5	602	c.468C>T	c.(466-468)caC>caT	p.H156H	RALYL_uc003ycq.4_Silent_p.H143H|RALYL_uc003ycr.4_Silent_p.H143H|RALYL_uc003ycs.4_Silent_p.H143H|RALYL_uc010lzy.3_Silent_p.H132H|RALYL_uc003ycu.4_Silent_p.H70H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	143							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTGATTACCACGGGCGTGTGC	0.483													T	85774546	C	T	85774546	2	4	191	1	0	0	0	0	0	0	0	1	13108	535	19	1		1	RALYL	8	85774546	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	10602851	85774546	60589476	25	13247											
CORO2A	7464	broad.mit.edu	37	chr9	100897128	100897128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaggatgttggcggccGtggggtgccactccaccagg	7	7	17	10	2	0	2	0	1	0	1	1	3	1	3	4	6	1	1	4	6	1	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr9:100897128G>A	uc004aym.3	-	3	544	c.428C>T	c.(427-429)aCg>aTg	p.T143M	CORO2A_uc004ayl.3_Missense_Mutation_p.T143M	NM_052820	NP_438171	Q92828	COR2A_HUMAN	Homo sapiens coronin, actin binding protein, 2A (CORO2A), transcript variant 2, mRNA.	143					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTGGCGGCCGTGGGGTGCCA	0.587													A	100897128	G	A	100897128	3	1	191	1	0	0	0	0	1	0	0	0	3787	1145	40	1	1185	1	CORO2A	9	100897128	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		100897128	40316303	26	13248											
OR51B6	390058	broad.mit.edu	37	chr11	5373571	5373571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacaatgagctacatccaCttccttttcccaccttttat	10	15	2	14	0	1	1	1	1	0	0	4	1	4	1	4	0	2	1	4	0	3	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:5373571C>A	uc010qzb.2	+	0	834	c.834C>A	c.(832-834)caC>caA	p.H278Q	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004750	NP_001004750	Q9H340	O51B6_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 6 (OR51B6), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTACATCCACTTCCTTTTCC	0.398													A	5373571	C	A	5373571	3	1	191	1	0	0	0	0	1	0	0	0	11168	564	20	4	836	4	OR51B6	11	5373571	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		5373571	129632945	27	13249											
ADM	133	broad.mit.edu	37	chr11	10327296	10327296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggttcgctcgccttcCtaggcgctgacaccgctcgg	4	9	12	16	5	0	1	0	1	0	0	4	1	1	1	4	3	0	4	4	3	1	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:10327296C>T	uc001mil.1	+	1	205	c.49C>T	c.(49-51)Cta>Tta	p.L17L		NM_001124	NP_001115	P35318	ADML_HUMAN	Homo sapiens adrenomedullin (ADM), mRNA.	17					blood circulation|cAMP biosynthetic process|female pregnancy|negative regulation of vasoconstriction|progesterone biosynthetic process|response to wounding	cytoplasm|extracellular space|soluble fraction	hormone activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(1)	6				all cancers(16;3.51e-65)|Epithelial(150;1.52e-62)|BRCA - Breast invasive adenocarcinoma(625;0.0257)		GCTCGCCTTCCTAGGCGCTGA	0.612													T	10327296	C	T	10327296	2	4	191	1	0	0	0	0	0	0	0	1	321	680	24	2		2	ADM	11	10327296	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	4953725	10327296	124679220	28	13250											
CHST1	8534	broad.mit.edu	37	chr11	45671304	45671304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcttcagctcctcctcCgaggcggcgatcttgtagcc	4	11	12	14	3	3	0	1	0	2	0	6	2	6	0	4	3	2	3	4	3	1	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:45671304C>T	uc021qgn.1	-	0	1170	c.1170G>A	c.(1168-1170)tcG>tcA	p.S390S	CHST1_uc001mys.2_Silent_p.S390S	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	390					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GCTCCTCCTCCGAGGCGGCGA	0.692													T	45671304	C	T	45671304	2	4	191	1	0	0	0	0	0	0	0	1	3427	639	23	1		1	CHST1	11	45671304	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	35344008	45671304	89335212	29	13251											
OR4P4	81300	broad.mit.edu	37	chr11	55406609	55406609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttcatttacattagacCggtcacaacattctcagaag	13	13	6	9	1	3	2	3	0	1	2	4	2	3	2	1	1	2	1	1	1	4	6			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55406609C>T	uc010rij.2	+	0	776	c.776C>T	c.(775-777)cCg>cTg	p.P259L		NM_001004124	NP_001004124	Q8NGL7	OR4P4_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily P, member 4 (OR4P4), mRNA.	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258I(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TACATTAGACCGGTCACAACA	0.418													T	55406609	C	T	55406609	3	4	191	1	0	0	0	0	1	0	0	0	11156	652	23	1	778	1	OR4P4	11	55406609	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	9735305	55406609	79599907	30	13252											
OR5D13	390142	broad.mit.edu	37	chr11	55541762	55541762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgtgttttacacagtggcGattccaatgctgaacccatt	9	14	8	10	1	1	1	0	1	1	0	2	2	2	1	2	1	3	2	2	1	3	4	rs150209335	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:55541762G>A	uc010ril.2	+	0	849	c.849G>A	c.(847-849)gcG>gcA	p.A283A		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A283A(2)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				ACACAGTGGCGATTCCAATGC	0.363													A	55541762	G	A	55541762	2	1	191	1	0	0	0	0	0	0	0	1	11230	1045	37	1		1	OR5D13	11	55541762	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	135153	55541762	79464754	31	13253											
OR6Q1	219952	broad.mit.edu	37	chr11	57798597	57798597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttggaccaccgactacGgagacccatgtatttcttcc	8	11	10	12	2	1	1	0	0	1	1	2	4	2	2	4	3	1	2	4	3	2	5			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:57798597G>A	uc010rjz.2	+	0	173	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	OR9Q1_uc001nmj.3_Intron	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily Q, member 1 (OR6Q1), mRNA.	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CACCGACTACGGAGACCCATG	0.483													A	57798597	G	A	57798597	3	1	191	1	0	0	0	0	1	0	0	0	11284	1116	39	1	175	1	OR6Q1	11	57798597	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	2256835	57798597	77207919	32	13254											
PLAC1L	219990	broad.mit.edu	37	chr11	59807922	59807922	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggaggtctgctcagaCgaaggtctccatggcgttag	7	10	15	9	2	3	1	1	0	2	1	4	3	3	2	1	4	2	3	1	4	2	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:59807922C>T	uc001nol.3	+	0						NM_173801	NP_776162	Q86WS3	PLACL_HUMAN	Homo sapiens placenta-specific 1-like (PLAC1L), mRNA.							extracellular region				breast(1)|lung(9)|ovary(2)|prostate(2)|skin(1)	15						TCTGCTCAGACGAAGGTCTCC	0.473													T	59807922	C	T	59807922	1	4	191	1	0	0	0	0	0	0	0	0	12090	551	19	1		1	PLAC1L	11	59807922	Translation_Start_Site	SNP	C	TCGA-27-2518-01A-01D-1494-08	2009325	59807922	75198594	33	13255											
SLC22A11	55867	broad.mit.edu	37	chr11	64329558	64329558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcgccccaacattcGtcatctactgcggcctgcgg	6	10	8	17	4	3	0	1	0	2	0	5	0	3	0	4	2	4	0	4	2	2	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:64329558G>A	uc001oai.3	+	2	954	c.580G>A	c.(580-582)Gtc>Atc	p.V194I	SLC22A11_uc001oah.1_Missense_Mutation_p.R159H|SLC22A11_uc009ypq.3_Missense_Mutation_p.V194I|SLC22A11_uc001oak.1_Missense_Mutation_p.V23I	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	194					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	CCCAACATTCGTCATCTACTG	0.622											OREG0004030	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64329558	G	A	64329558	3	1	191	1	0	0	0	0	1	0	0	0	14536	1145	40	1	590	1	SLC22A11	11	64329558	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	4521636	64329558	70676958	34	13256											
RAB38	23682	broad.mit.edu	37	chr11	87847172	87847172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctactaggatttggcacagCcagagcagctggcaaccttg	10	8	11	12	0	0	1	0	0	0	1	0	2	0	2	3	3	5	4	3	3	3	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr11:87847172C>A	uc001pcj.2	-	2	703	c.620G>T	c.(619-621)gGc>gTc	p.G207V		NM_022337	NP_071732	P57729	RAB38_HUMAN	Homo sapiens RAB38, member RAS oncogene family (RAB38), mRNA.	207					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTGGCACAGCCAGAGCAGCT	0.473													A	87847172	C	A	87847172	3	1	191	1	0	0	0	0	1	0	0	0	13016	739	26	4	19	4	RAB38	11	87847172	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	23517614	87847172	47159344	35	13257											
CCND2	894	broad.mit.edu	37	chr12	4409083	4409083	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcctcaatagcctgcagCagtaccgtcaggaccaacgt	10	8	9	14	2	2	0	2	0	0	0	3	1	3	1	4	1	6	4	4	1	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:4409083C>T	uc001qmo.3	+	4	1083	c.778C>T	c.(778-780)Cag>Tag	p.Q260*		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	260					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			TAGCCTGCAGCAGTACCGTCA	0.542			T	IGL@	"NHL,CLL"								T	4409083	C	T	4409083	4	4	191	1	0	0	0	0	0	1	0	0	2947	711	25	2	796	2	CCND2	12	4409083	Nonsense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		4409083	129442812	36	13258											
PRPF40B	25766	broad.mit.edu	37	chr12	50030609	50030609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgggagcgacgccaacaaCgcaagaatcgggaggccttc	11	5	13	12	5	0	1	0	0	0	1	3	4	0	3	2	3	3	1	2	3	4	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:50030609C>T	uc001rur.1	+	14	1534	c.1471C>T	c.(1471-1473)Cgc>Tgc	p.R491C	PRPF40B_uc001rup.1_Missense_Mutation_p.R513C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R485C|PRPF40B_uc001rus.1_Missense_Mutation_p.R434C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	491					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						ACGCCAACAACGCAAGAATCG	0.577											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50030609	C	T	50030609	3	4	191	1	0	0	0	0	1	0	0	0	12658	536	19	1	1529	1	PRPF40B	12	50030609	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	45621526	50030609	83821286	37	13259											
LEMD3	23592	broad.mit.edu	37	chr12	65564282	65564282	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgactgctaaatcggcCggcggcaggctggagacttc	7	7	14	13	4	0	2	0	1	0	1	2	3	0	2	2	5	1	4	2	5	2	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:65564282C>A	uc001ssl.2	+	0	932	c.906C>A	c.(904-906)gcC>gcA	p.A302A	LEMD3_uc009zqo.2_Silent_p.A302A	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	302					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		CTAAATCGGCCGGCGGCAGGC	0.622													A	65564282	C	A	65564282	2	1	191	1	0	0	0	0	0	0	0	1	8780	639	23	4		4	LEMD3	12	65564282	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	15533673	65564282	68287613	38	13260											
GLT1D1	144423	broad.mit.edu	37	chr12	129360521	129360521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctttgactttgaaagccGatctgagattgcaaacctca	11	12	8	10	1	2	3	1	3	1	1	2	5	2	3	3	0	4	1	3	0	2	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr12:129360521G>A	uc010tbh.1	+	1	107	c.98G>A	c.(97-99)cGa>cAa	p.R33Q	GLT1D1_uc001uhx.1_Missense_Mutation_p.R44Q|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	44					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		TTTGAAAGCCGATCTGAGATT	0.488													A	129360521	G	A	129360521	3	1	191	1	0	0	0	0	1	0	0	0	6521	1058	37	1	137	1	GLT1D1	12	129360521	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	63796239	129360521	4491374	39	13261											
F7	2155	broad.mit.edu	37	chr13	113771870	113771870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctccgcggcccactgtttCgacaaaatcaagaactggag	11	8	10	12	3	2	1	1	0	1	1	4	3	2	2	2	2	1	1	2	2	4	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr13:113771870C>T	uc001vsv.3	+	7	816	c.765C>T	c.(763-765)ttC>ttT	p.F255F	F7_uc001vsw.3_Silent_p.F233F|F7_uc010tjt.2_Silent_p.F186F	NM_000131	NP_000122	P08709	FA7_HUMAN	Homo sapiens coagulation factor VII (serum prothrombin conversion accelerator) (F7), transcript variant 1, mRNA.	255	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	CCCACTGTTTCGACAAAATCA	0.622													T	113771870	C	T	113771870	2	4	191	1	0	0	0	0	0	0	0	1	5391	883	31	1		1	F7	13	113771870	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		113771870	1398008	40	13262											
STYX	6815	broad.mit.edu	37	chr14	53217446	53217446	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacccatataatatgcataCgacaaaatattgaagcaaac	20	9	4	8	1	0	1	0	1	0	0	0	2	0	1	1	0	5	2	1	0	10	7			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:53217446C>T	uc010tqy.2	+	4	252	c.190C>T	c.(190-192)Cga>Tga	p.R64*	STYX_uc001xaa.3_Nonsense_Mutation_p.R64*	NM_001130701	NP_660294	Q8WUJ0	STYX_HUMAN	Homo sapiens serine/threonine/tyrosine interacting protein (STYX), transcript variant 2, mRNA.	64					protein dephosphorylation|spermatogenesis	cytoplasm	protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(41;0.176)					AATATGCATACGACAAAATAT	0.289													T	53217446	C	T	53217446	4	4	191	1	0	0	0	0	0	1	0	0	15456	528	19	1	204	1	STYX	14	53217446	Nonsense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		53217446	54132094	41	13263											
AHNAK2	113146	broad.mit.edu	37	chr14	105418809	105418809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttgaacttgctgtctttGgcagtcacgtccttgtcggc	5	16	10	10	2	2	1	1	1	1	0	4	1	3	1	1	2	2	2	1	2	1	5			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr14:105418809G>A	uc010axc.1	-	6	3099	c.2979C>T	c.(2977-2979)gcC>gcT	p.A993A	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Silent_p.A893A	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	993						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCTGTCTTTGGCAGTCACGT	0.602													A	105418809	G	A	105418809	2	1	191	1	0	0	0	0	0	0	0	1	415	1335	47	2		2	AHNAK2	14	105418809	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	52201363	105418809	1930731	42	13264											
SYNM	23336	broad.mit.edu	37	chr15	99671205	99671205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggaggacacagaaggaCggtgcagtgggcgagaaggt	13	3	19	6	3	0	2	0	0	0	2	0	7	0	5	0	6	1	1	0	6	3	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr15:99671205C>T	uc002bup.3	+	4	2757	c.2637C>T	c.(2635-2637)gaC>gaT	p.D879D	SYNM_uc002buo.3_Silent_p.D879D|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	880	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						CACAGAAGGACGGTGCAGTGG	0.582													T	99671205	C	T	99671205	2	4	191	1	0	0	0	0	0	0	0	1	15552	535	19	1		1	SYNM	15	99671205	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		99671205	2860187	43	13265											
GRIN2A	2903	broad.mit.edu	37	chr16	9857448	9857448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatttccctccagaagcCgttccctgtccttgaggctt	9	12	7	13	1	0	2	0	1	0	1	4	2	4	2	5	1	1	2	5	1	3	4	rs149745535		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:9857448C>T	uc010uym.2	-	13	4263	c.3953G>A	c.(3952-3954)cGg>cAg	p.R1318Q	GRIN2A_uc002czo.4_Missense_Mutation_p.R1318Q|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1318					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1318W(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTCCAGAAGCCGTTCCCTGTC	0.527													T	9857448	C	T	9857448	3	4	191	1	0	0	0	0	1	0	0	0	6834	652	23	1	445	1	GRIN2A	16	9857448	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		9857448	80497305	44	13266											
DNAH3	55567	broad.mit.edu	37	chr16	21156695	21156695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccatgacgtgcgttgcatCaagggcgggtaaaagctgtg	9	9	15	8	3	1	1	1	1	0	0	2	1	2	1	1	2	3	4	1	2	3	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:21156695C>G	uc010vbe.2	-	2	255	c.255G>C	c.(253-255)ttG>ttC	p.L85F	DNAH3_uc002die.2_Missense_Mutation_p.L56F	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	85	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGCGTTGCATCAAGGGCGGGT	0.527													G	21156695	C	G	21156695	3	3	191	1	0	0	0	0	1	0	0	0	4642	825	29	4	12334	4	DNAH3	16	21156695	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	11299247	21156695	69198058	45	13267											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884862	29884862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgccccagactcacaggCgcatttggggaccctatcgc	7	8	12	14	2	1	1	1	0	0	1	2	2	1	2	3	3	1	1	3	3	1	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:29884862C>T	uc010vec.2	-	12	2538	c.2293G>A	c.(2293-2295)Gcc>Acc	p.A765T	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.A695T|SEZ6L2_uc002dur.4_Missense_Mutation_p.A695T|SEZ6L2_uc002duq.4_Missense_Mutation_p.A765T|SEZ6L2_uc010ved.2_Missense_Mutation_p.A721T|SEZ6L2_uc002dus.4_Missense_Mutation_p.A651T	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	765	Sushi 4.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACTCACAGGCGCATTTGGGG	0.672													T	29884862	C	T	29884862	3	4	191	1	0	0	0	0	1	0	0	0	14237	768	27	1	502	1	SEZ6L2	16	29884862	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	8728167	29884862	60469891	46	13268											
CMTM2	146225	broad.mit.edu	37	chr16	66613682	66613682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacctcaaaaggcggtgcagCccaagcacgaagtgggcacg	13	3	13	12	3	1	0	1	0	0	0	1	1	1	0	2	3	4	3	2	3	5	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr16:66613682C>T	uc002ept.3	+	0	332	c.172C>T	c.(172-174)Ccc>Tcc	p.P58S	CMTM2_uc010cdu.3_Missense_Mutation_p.P58S	NM_144673	NP_653274	Q8TAZ6	CKLF2_HUMAN	Homo sapiens CKLF-like MARVEL transmembrane domain containing 2 (CMTM2), transcript variant 1, mRNA.	58					chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.068)|Epithelial(162;0.212)		GGCGGTGCAGCCCAAGCACGA	0.557													T	66613682	C	T	66613682	3	4	191	1	0	0	0	0	1	0	0	0	3614	739	26	2	174	2	CMTM2	16	66613682	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08	36728820	66613682	23741071	47	13269											
DNAI2	64446	broad.mit.edu	37	chr17	72308276	72308276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgtagacctggaggcGctggtcagcaaggccgagga	8	5	17	11	3	1	1	1	0	0	1	1	4	1	3	3	6	1	3	3	6	2	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:72308276G>A	uc002jkf.3	+	11	1739	c.1629G>A	c.(1627-1629)gcG>gcA	p.A543A	DNAI2_uc002jkg.3_Silent_p.A531A|DNAI2_uc010dfp.3_Intron|BX648926_uc002jkh.1_5'Flank|DNAI2_uc002jki.3_Non-coding_Transcript	NM_023036	NP_075462	Q9GZS0	DNAI2_HUMAN	Homo sapiens dynein, axonemal, intermediate chain 2 (DNAI2), transcript variant 1, mRNA.	543					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						ACCTGGAGGCGCTGGTCAGCA	0.617									Kartagener syndrome				A	72308276	G	A	72308276	2	1	191	1	0	0	0	0	0	0	0	1	4649	1074	38	1		1	DNAI2	17	72308276	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08		72308276	8886934	48	13270											
QRICH2	84074	broad.mit.edu	37	chr17	74276772	74276772	+	Frame_Shift_Del	DEL	T	T	-																															ccaggtgctccctgttggccTtttccttttcgagcttctcc																										TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr17:74276772delT	uc002jrd.1	-	9	4106	c.3926delA	c.(3925-3927)aagfs	p.K1309fs	QRICH2_uc010dgw.1_Frame_Shift_Del_p.K153fs	NM_032134	NP_115510	Q9H0J4	QRIC2_HUMAN	Homo sapiens glutamine rich 2 (QRICH2), mRNA.	1309							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCTGTTGGCCTTTTCCTTTTC	0.587													-	74276772	T	-	74276772	7	5	191	1	0	1	0	1	0	0	0	0	12968	1609	56	0	1105	0	QRICH2	17	74276772	Frame_Shift_Del	DEL	T	TCGA-27-2518-01A-01D-1494-08	1968496	74276772	6918438	49	13271											
SERPINB13	5275	broad.mit.edu	37	chr18	61255920	61255920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggattcacttggcgccGtcagcactcgacttgggttt	6	13	11	11	3	3	0	3	0	0	0	4	2	3	1	1	3	1	2	1	3	0	4	rs139825462		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr18:61255920G>A	uc010xep.2	+	1	187	c.19G>A	c.(19-21)Gtc>Atc	p.V7I	SERPINB13_uc002ljc.3_Missense_Mutation_p.V7I|SERPINB13_uc002ljd.3_5'UTR|SERPINB13_uc010xeq.2_5'UTR|SERPINB13_uc010xer.2_5'UTR	NM_012397	NP_036529	Q9UIV8	SPB13_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 13 (SERPINB13), mRNA.	7					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity	p.V7I(6)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						ACTTGGCGCCGTCAGCACTCG	0.418													A	61255920	G	A	61255920	3	1	191	1	0	0	0	0	1	0	0	0	14193	1145	40	1	21	1	SERPINB13	18	61255920	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		61255920	16821328	50	13272											
CLEC4M	10332	broad.mit.edu	37	chr19	7833731	7833731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggctttgcagcttccagCggtactggaacagtggagaa	10	9	14	8	1	0	1	0	0	0	1	1	3	1	2	1	4	5	4	1	4	3	3			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:7833731C>T	uc010dvt.3	+	6	1175	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	CLEC4M_uc002mih.3_Missense_Mutation_p.R330W|CLEC4M_uc010xjw.2_Missense_Mutation_p.R286W|CLEC4M_uc010dvs.3_Missense_Mutation_p.R329W|CLEC4M_uc010xjx.2_Missense_Mutation_p.R302W|CLEC4M_uc002mhz.3_Missense_Mutation_p.A223V|CLEC4M_uc002mic.3_Missense_Mutation_p.A287V|CLEC4M_uc002mia.3_Missense_Mutation_p.R217W	NM_001144909	NP_001138381	Q9H2X3	CLC4M_HUMAN	Homo sapiens C-type lectin domain family 4, member M (CLEC4M), transcript variant 9, mRNA.	353	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGCTTCCAGCGGTACTGGAA	0.498													T	7833731	C	T	7833731	3	4	191	1	0	0	0	0	1	0	0	0	3549	768	27	1	1104	1	CLEC4M	19	7833731	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		7833731	51295252	51	13273											
SLC1A6	6511	broad.mit.edu	37	chr19	15067440	15067440	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtcagggtgtacatgccCagctgaccccccaggacggc	8	5	13	15	2	1	1	1	1	0	0	1	2	1	2	4	4	3	2	4	4	1	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:15067440C>T	uc002naa.1	-	5	1024	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Silent_p.L275L	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	339					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TGTACATGCCCAGCTGACCCC	0.587													T	15067440	C	T	15067440	2	4	191	1	0	0	0	0	0	0	0	1	14530	581	21	2		2	SLC1A6	19	15067440	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	7233709	15067440	44061543	52	13274											
KCNN1	3780	broad.mit.edu	37	chr19	18084899	18084899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagccccaggaccaggacGatgacgaggatgatgaggaa	13	3	16	9	2	0	3	0	3	0	0	0	9	0	7	3	5	1	1	3	5	1	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:18084899G>A	uc002nht.3	+	2	512	c.202G>A	c.(202-204)Gat>Aat	p.D68N	KCNN1_uc010xqa.1_Missense_Mutation_p.D68N	NM_002248	NP_002239	Q92952	KCNN1_HUMAN	Homo sapiens potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1 (KCNN1), mRNA.	68					synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GGACCAGGACGATGACGAGGA	0.701													A	18084899	G	A	18084899	3	1	191	1	0	0	0	0	1	0	0	0	8136	1058	37	1	204	1	KCNN1	19	18084899	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08	3017459	18084899	41044084	53	13275											
PSG4	5675	broad.mit.edu	37	chr19	43414919	43414919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacaggtagcttgcatcCggagtctcaggatcacagat	12	8	10	11	1	2	1	2	0	1	1	4	3	3	3	2	3	3	3	2	3	2	2	rs1065506		TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:43414919C>T	uc002ovj.1	-	2	618	c.519G>A	c.(517-519)ccG>ccA	p.P173P	PSG3_uc002ouf.3_Intron|PSG4_uc010xwk.1_Intron|PSG4_uc002ovg.1_Silent_p.P173P	NM_002782	NP_002773	Q00888	PSG4_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 6 (PSG6), transcript variant 1, mRNA.	174	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				AGCTTGCATCCGGAGTCTCAG	0.532													T	43414919	C	T	43414919	2	4	191	1	0	0	0	0	0	0	0	1	12742	639	23	1		1	PSG4	19	43414919	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	25330020	43414919	15714064	54	13276											
SIGLEC5	8778	broad.mit.edu	37	chr19	52115643	52115643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagatgcttgatctccGgggctgtctggccagggctt	5	10	17	9	1	2	2	0	1	2	1	3	4	2	3	2	6	1	3	2	6	0	2	rs141897891	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:52115643G>A	uc002pxe.3	-	8	1636	c.1497C>T	c.(1495-1497)ccC>ccT	p.P499P		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	499			P -> A (in dbSNP:rs3829655).		cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGATCTCCGGGGCTGTCTG	0.507													A	52115643	G	A	52115643	2	1	191	1	0	0	0	0	0	0	0	1	14405	1103	39	1		1	SIGLEC5	19	52115643	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	8700724	52115643	7013340	55	13277											
NLRP5	126206	broad.mit.edu	37	chr19	56515208	56515208	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctcaccttttccagctaCgggctgcaatggtgtctcta	6	13	9	13	2	2	0	1	0	1	0	5	0	3	0	2	2	3	4	2	2	3	4			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr19:56515208C>T	uc002qmj.3	+	1	189	c.189C>T	c.(187-189)taC>taT	p.Y63Y	NLRP5_uc002qmi.3_Silent_p.Y63Y	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	63	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TTTCCAGCTACGGGCTGCAAT	0.423													T	56515208	C	T	56515208	2	4	191	1	0	0	0	0	0	0	0	1	10556	547	19	1		1	NLRP5	19	56515208	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08	4399565	56515208	2613775	56	13278											
SALL4	57167	broad.mit.edu	37	chr20	50407509	50407509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaggctgcaggtcacCgggcaaggagccacccgtga	9	3	15	14	2	1	1	1	1	0	0	1	2	1	2	4	5	2	3	4	5	1	0			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:50407509C>T	uc002xwh.4	-	1	1614	c.1513G>A	c.(1513-1515)Ggt>Agt	p.G505S	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G505S(2)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TGCAGGTCACCGGGCAAGGAG	0.567													T	50407509	C	T	50407509	3	4	191	1	0	0	0	0	1	0	0	0	13904	652	23	1	1660	1	SALL4	20	50407509	Missense_Mutation	SNP	C	TCGA-27-2518-01A-01D-1494-08		50407509	12618011	57	13279											
ZGPAT	84619	broad.mit.edu	37	chr20	62365995	62365995	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctctgtccatctcttgcAgtggtggggtcggacgccgt	3	11	14	13	3	2	0	0	0	2	0	5	1	3	1	3	4	1	1	3	4	0	1			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr20:62365995A>C	uc002ygk.3	+	5	1061	c.872_splice	c.e5-2	p.V291_splice	ZGPAT_uc002ygi.2_Intron|ZGPAT_uc010gkk.2_Intron|ZGPAT_uc010gkl.2_Intron|ZGPAT_uc002ygm.3_Intron|ZGPAT_uc002ygj.2_Intron|ZGPAT_uc002ygn.4_Intron|ZGPAT_uc011abi.2_5'Flank|ZGPAT_uc002ygp.4_5'Flank	NM_032527	NP_115916	Q8N5A5	ZGPAT_HUMAN	Homo sapiens zinc finger, CCCH-type with G patch domain (ZGPAT), transcript variant 1, mRNA.	291					negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	14	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CATCTCTTGCAGTGGTGGGGT	0.622													C	62365995	A	C	62365995	5	2	191	1	0	0	0	0	0	0	1	0	17775	202	7	5	884	5	ZGPAT	20	62365995	Splice_Site	SNP	A	TCGA-27-2518-01A-01D-1494-08	11958486	62365995	659525	58	13280											
NRIP1	8204	broad.mit.edu	37	chr21	16339283	16339283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atattcatcaatagttgtagGtgtactactttcctcaaaaa	14	15	5	7	0	3	0	3	0	0	0	4	0	4	0	1	1	2	3	1	1	8	8			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr21:16339283G>T	uc021whl.1	-	0	1231	c.1231C>A	c.(1231-1233)Cct>Act	p.P411T	NRIP1_uc002yjx.2_Missense_Mutation_p.P411T	NM_003489	NP_003480	P48552	NRIP1_HUMAN	Homo sapiens nuclear receptor interacting protein 1 (NRIP1), mRNA.	411	Repression domain 2.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		ATAGTTGTAGGTGTACTACTT	0.373													T	16339283	G	T	16339283	3	4	191	1	0	0	0	0	1	0	0	0	10728	1261	44	4	2249	4	NRIP1	21	16339283	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		16339283	31790612	59	13281											
TUBA8	51807	broad.mit.edu	37	chr22	18609536	18609536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctggtgccctacccccGcatccacttcccgctggtca	6	8	7	20	2	1	0	1	0	0	0	3	0	3	0	6	2	3	2	6	2	2	2			TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:18609536G>A	uc002znw.1	+	2	1160	c.863G>A	c.(862-864)cGc>cAc	p.R288H	TUBA8_uc002znv.2_Missense_Mutation_p.R264H|TUBA8_uc021wkt.1_Missense_Mutation_p.R198H	NM_001193414	NP_001180343	Q9NY65	TBA8_HUMAN	Homo sapiens tubulin, alpha 8 (TUBA8), transcript variant 2, mRNA.	264					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CCCTACCCCCGCATCCACTTC	0.567													A	18609536	G	A	18609536	3	1	191	1	0	0	0	0	1	0	0	0	16852	1087	38	1	805	1	TUBA8	22	18609536	Missense_Mutation	SNP	G	TCGA-27-2518-01A-01D-1494-08		18609536	32695030	60	13282											
SCUBE1	80274	broad.mit.edu	37	chr22	43600126	43600126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggggatgcgccagcacGtcgaagagggccttgatcag	8	8	15	10	3	2	2	1	1	1	1	3	4	2	3	2	3	2	1	2	3	1	2	rs140846155	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chr22:43600126G>A	uc003bdt.2	-	21	2971	c.2844C>T	c.(2842-2844)gaC>gaT	p.D948D		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	948					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				GCGCCAGCACGTCGAAGAGGG	0.572													A	43600126	G	A	43600126	2	1	191	1	0	0	0	0	0	0	0	1	14037	1136	40	1		1	SCUBE1	22	43600126	Silent	SNP	G	TCGA-27-2518-01A-01D-1494-08	24990590	43600126	7704440	61	13283											
RAB9A	9367	broad.mit.edu	37	chrX	13727279	13727279	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgtctacagaagaagcCcaagcttggtgcagggacaa	13	6	13	9	0	1	2	0	0	1	2	1	3	1	3	1	3	4	2	1	3	5	2	rs146572677	byFrequency	TCGA-27-2518-01A-01D-1494-08	TCGA-27-2518-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae099ff-330f-492b-a06d-6f975e9e5aea	54dcf632-973a-4ecc-be89-c590ba1a6ad0	g.chrX:13727279C>G	uc022bte.1	+	0	414	c.414C>G	c.(412-414)gcC>gcG	p.A138A	RAB9A_uc004cvm.3_Silent_p.A138A|RAB9A_uc010neh.3_Silent_p.A138A	NM_004251	NP_004242	P51151	RAB9A_HUMAN	Homo sapiens RAB9A, member RAS oncogene family (RAB9A), transcript variant 1, mRNA.	138					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding	p.A138V(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CAGAAGAAGCCCAAGCTTGGT	0.458													G	13727279	C	G	13727279	2	3	191	1	0	0	0	0	0	0	0	1	13046	610	22	4		4	RAB9A	23	13727279	Silent	SNP	C	TCGA-27-2518-01A-01D-1494-08		13727279	141543281	62	13284											
CHD5	26038	broad.mit.edu	37	chr1	6172293	6172293	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttcctctttgtcaccatTttgctgtgtttcaatgggct	5	19	7	10	0	4	0	2	0	2	0	5	0	5	0	2	1	1	3	2	1	1	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:6172293T>G	uc001amb.2	-	34	5158	c.5047A>C	c.(5047-5049)Aat>Cat	p.N1683H	CHD5_uc001alz.2_Missense_Mutation_p.N540H|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1683					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TTGTCACCATTTTGCTGTGTT	0.512													G	6172293	T	G	6172293	3	3	192	1	0	0	0	0	1	0	0	0	3358	1841	64	5	845	5	CHD5	1	6172293	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08		6172293	243078328	1	13285											
AIM1L	55057	broad.mit.edu	37	chr1	26658052	26658052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgagagtggggaactcGccctcagagagaatgtgctg	9	7	16	9	2	1	3	1	1	0	3	2	6	1	4	2	2	2	1	2	2	2	0			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:26658052G>A	uc001bmd.4	-	14	4392	c.4242C>T	c.(4240-4242)ggC>ggT	p.G1414G		NM_001039775	NP_001034864	Q8N1P7	AIM1L_HUMAN	Homo sapiens absent in melanoma 1-like (AIM1L), mRNA.	369							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGGGGAACTCGCCCTCAGAGA	0.567													A	26658052	G	A	26658052	2	1	192	1	0	0	0	0	0	0	0	1	431	1074	38	1		1	AIM1L	1	26658052	Silent	SNP	G	TCGA-27-2519-01A-01D-1494-08	20485759	26658052	222592569	2	13286											
WDR65	149465	broad.mit.edu	37	chr1	43663300	43663300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtctagctacctgcatccGcaaaccccttatagccacct	9	9	6	17	2	1	0	0	0	1	0	2	0	2	0	6	1	5	3	6	1	5	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:43663300G>A	uc021omk.1	+	6	1345	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	EBNA1BP2_uc001cio.3_Intron|WDR65_uc010ojz.2_Missense_Mutation_p.R389H|WDR65_uc001ciq.2_Missense_Mutation_p.R400H|WDR65_uc001cip.2_Missense_Mutation_p.R400H	NM_001195831	NP_001182760	Q96MR6	WDR65_HUMAN	Homo sapiens WD repeat domain 65 (WDR65), transcript variant 5, mRNA.	400								p.R400H(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACCTGCATCCGCAAACCCCTT	0.458													A	43663300	G	A	43663300	3	1	192	1	0	0	0	0	1	0	0	0	17418	1087	38	1	1221	1	WDR65	1	43663300	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	17005248	43663300	205587321	3	13287											
PTPRF	5792	broad.mit.edu	37	chr1	44069848	44069848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcatccagtcccggaccatgCcggtggagcaaggtgtgtgc	7	7	15	12	2	0	0	0	0	0	0	2	2	2	2	4	4	3	2	4	4	1	0			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:44069848C>T	uc001cjr.3	+	15	3365	c.3025C>T	c.(3025-3027)Ccg>Tcg	p.P1009S	PTPRF_uc001cjs.3_Missense_Mutation_p.P1000S|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Missense_Mutation_p.P569S|PTPRF_uc001cjv.3_Missense_Mutation_p.P469S|PTPRF_uc001cjw.3_Missense_Mutation_p.P235S	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1009					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCGGACCATGCCGGTGGAGCA	0.617													T	44069848	C	T	44069848	3	4	192	1	0	0	0	0	1	0	0	0	12889	739	26	2	3079	2	PTPRF	1	44069848	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	406548	44069848	205180773	4	13288											
TCHH	7062	broad.mit.edu	37	chr1	152080572	152080572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctcctggaggaatttTctctctcgttcctgacggcg	4	15	10	12	3	2	1	0	1	2	0	7	3	5	3	3	3	0	2	3	3	1	4	rs71585886		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152080572T>A	uc009wne.1	-	2	5393	c.5121A>T	c.(5119-5121)agA>agT	p.R1707S	TCHH_uc001ezp.2_Missense_Mutation_p.R1707S	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1707	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGAGGAATTTTCTCTCTCGTT	0.587													A	152080572	T	A	152080572	3	1	192	1	0	0	0	0	1	0	0	0	15800	1780	62	5	714	5	TCHH	1	152080572	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	108010724	152080572	97170049	5	13289											
TCHH	7062	broad.mit.edu	37	chr1	152081047	152081047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtcacggtcctgacgcCgctgttgcccgcgctcctgg	2	11	12	16	5	2	1	1	1	1	0	4	1	4	1	4	2	1	3	4	2	0	2	rs71585886		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:152081047C>T	uc009wne.1	-	2	4918	c.4646G>A	c.(4645-4647)cGg>cAg	p.R1549Q	TCHH_uc001ezp.2_Missense_Mutation_p.R1549Q	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1549	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCTGACGCCGCTGTTGCCC	0.607													T	152081047	C	T	152081047	3	4	192	1	0	0	0	0	1	0	0	0	15800	652	23	1	1189	1	TCHH	1	152081047	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	475	152081047	97169574	6	13290											
OR2M2	391194	broad.mit.edu	37	chr1	248344068	248344068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctttgttcatgtacataCggcccacatctgatcactcc	9	12	6	14	1	3	1	2	1	1	0	4	1	4	1	2	1	3	3	2	1	2	4	rs150685608		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr1:248344068C>T	uc010pzf.2	+	0	781	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CATGTACATACGGCCCACATC	0.517													T	248344068	C	T	248344068	3	4	192	1	0	0	0	0	1	0	0	0	11086	527	19	1	783	1	OR2M2	1	248344068	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	96263021	248344068	906553	7	13291											
C2orf89	129293	broad.mit.edu	37	chr2	85051138	85051138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggcctccgctgtgaccGcctccgcttcttccggaacc	3	9	10	19	6	1	1	0	1	1	0	5	2	4	2	7	2	1	2	7	2	1	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:85051138G>A	uc010ysl.2	-	5	1362	c.1273C>T	c.(1273-1275)Cgg>Tgg	p.R425W	C2orf89_uc002sou.4_Missense_Mutation_p.R376W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	425						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						CGCTGTGACCGCCTCCGCTTC	0.652													A	85051138	G	A	85051138	3	1	192	1	0	0	0	0	1	0	0	0	2224	1086	38	1	252	1	C2orf89	2	85051138	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		85051138	158148235	8	13292											
SCN9A	6335	broad.mit.edu	37	chr2	167055444	167055444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttgccttaagcggtaaCgtctataagcacgctgaatg	11	12	9	9	3	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	5	6			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:167055444C>T	uc010fpl.3	-	26	6013	c.5672G>A	c.(5671-5673)cGt>cAt	p.R1891H	BC051759_uc002udp.3_Intron	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	1902	IQ.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TAAGCGGTAACGTCTATAAGC	0.363													T	167055444	C	T	167055444	3	4	192	1	0	0	0	0	1	0	0	0	14018	536	19	1	265	1	SCN9A	2	167055444	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	82004306	167055444	76143929	9	13293											
PDE1A	5136	broad.mit.edu	37	chr2	183066517	183066517	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactaggttccgaagatccCtgcagagtcaccaaaaggag	13	7	10	11	1	2	2	2	0	0	2	4	4	4	3	3	2	1	2	3	2	4	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:183066517C>G	uc002uos.3	-	10	1035	c.951_splice	c.e10-1	p.R317_splice	PDE1A_uc010zfp.1_Splice_Site_p.R213_splice|PDE1A_uc002uoq.1_Splice_Site_p.R317_splice|PDE1A_uc010zfq.1_Splice_Site_p.R317_splice|PDE1A_uc002uor.3_Splice_Site_p.R301_splice|PDE1A_uc002uou.3_Splice_Site_p.R283_splice	NM_001003683	NP_001003683	P54750	PDE1A_HUMAN	Homo sapiens phosphodiesterase 1A, calmodulin-dependent (PDE1A), transcript variant 2, mRNA.	317	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			CCGAAGATCCCTGCAGAGTCA	0.363													G	183066517	C	G	183066517	5	3	192	1	0	0	0	0	0	0	1	0	11709	695	24	4	759	4	PDE1A	2	183066517	Splice_Site	SNP	C	TCGA-27-2519-01A-01D-1494-08	16011073	183066517	60132856	10	13294											
PASK	23178	broad.mit.edu	37	chr2	242054741	242054741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccctggatagaattgCgatctctaaagtaactttcc	11	12	6	12	1	1	1	0	0	1	1	4	3	3	2	3	1	2	1	3	1	5	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr2:242054741C>T	uc002wao.2	-	12	3293	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	PASK_uc010zol.2_Missense_Mutation_p.A868T|PASK_uc010zom.2_Missense_Mutation_p.A1019T|PASK_uc010fzl.2_Missense_Mutation_p.A1054T|PASK_uc010zon.2_Missense_Mutation_p.A835T|PASK_uc021vzf.1_Missense_Mutation_p.A1054T|PASK_uc002wap.3_Missense_Mutation_p.A597T|PASK_uc002waq.3_Missense_Mutation_p.A1054T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	1054	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GATAGAATTGCGATCTCTAAA	0.433													T	242054741	C	T	242054741	3	4	192	1	0	0	0	0	1	0	0	0	11548	768	27	1	835	1	PASK	2	242054741	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	58988224	242054741	1144632	11	13295											
OR5H6	79295	broad.mit.edu	37	chr3	97983628	97983628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attagtcttgtcatttatagGtggccttcttcatgctttaa	8	19	7	7	0	4	0	2	0	2	0	4	0	4	0	1	2	1	1	1	2	4	9			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr3:97983628G>C	uc003dsi.1	+	0	500	c.500G>C	c.(499-501)gGt>gCt	p.G167A		NM_001005479	NP_001005479	Q8NGV6	OR5H6_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 6 (OR5H6), mRNA.	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCATTTATAGGTGGCCTTCTT	0.348													C	97983628	G	C	97983628	3	2	192	1	0	0	0	0	1	0	0	0	11239	1261	44	4	502	4	OR5H6	3	97983628	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		97983628	100038802	12	13296											
REST	5978	broad.mit.edu	37	chr4	57797807	57797807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggacaaaacttgaataCgccagagggtgaaactttaa	15	9	9	8	1	1	3	0	2	1	1	1	4	1	4	1	2	3	0	1	2	6	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:57797807C>T	uc003hch.3	+	3	3130	c.2783C>T	c.(2782-2784)aCg>aTg	p.T928M	REST_uc003hci.3_Missense_Mutation_p.T928M|REST_uc010ihf.3_Missense_Mutation_p.T602M	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	928					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTTGAATACGCCAGAGGGT	0.413													T	57797807	C	T	57797807	3	4	192	1	0	0	0	0	1	0	0	0	13322	536	19	1	2793	1	REST	4	57797807	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		57797807	133356469	13	13297											
NDST4	64579	broad.mit.edu	37	chr4	115997685	115997685	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtacttggtaagctgtTctcattggctttatgaaaac	9	17	9	6	0	1	1	1	1	1	0	2	1	1	1	0	2	3	5	0	2	5	8			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:115997685T>A	uc003ibu.3	-	1	1187	c.508A>T	c.(508-510)Aac>Tac	p.N170Y	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	170	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GGTAAGCTGTTCTCATTGGCT	0.368													A	115997685	T	A	115997685	3	1	192	1	0	0	0	0	1	0	0	0	10334	1783	62	5	2162	5	NDST4	4	115997685	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	58199878	115997685	75156591	14	13298											
KLKB1	3818	broad.mit.edu	37	chr4	187173239	187173239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggggagagtggccctggCaggtgagcctgcaggtgaag	7	7	19	8	0	0	3	0	2	0	1	0	4	0	3	2	6	2	2	2	6	1	1	rs61733605		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr4:187173239C>A	uc003iyy.3	+	10	1284	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	KLKB1_uc011clc.2_Missense_Mutation_p.Q203K|KLKB1_uc011cld.2_Missense_Mutation_p.Q367K	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	405	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GTGGCCCTGGCAGGTGAGCCT	0.542													A	187173239	C	A	187173239	3	1	192	1	0	0	0	0	1	0	0	0	8470	711	25	4	1251	4	KLKB1	4	187173239	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	71175554	187173239	3981037	15	13299											
RAB3C	115827	broad.mit.edu	37	chr5	57913622	57913622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcctttacatctgcattCgtcagcacagttgggatcga	9	12	9	11	2	2	0	1	0	1	0	5	3	3	1	1	1	3	3	1	1	1	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:57913622C>T	uc003jrp.3	+	1	274	c.177C>T	c.(175-177)ttC>ttT	p.F59F		NM_138453	NP_612462	Q96E17	RAB3C_HUMAN	Homo sapiens RAB3C, member RAS oncogene family (RAB3C), mRNA.	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)	21		all_cancers(5;9.93e-10)|all_epithelial(5;1.49e-10)|all_lung(5;8.97e-05)|Lung NSC(5;0.000139)|Prostate(74;0.0664)		OV - Ovarian serous cystadenocarcinoma(10;1.8e-34)		CATCTGCATTCGTCAGCACAG	0.383													T	57913622	C	T	57913622	2	4	192	1	0	0	0	0	0	0	0	1	13021	883	31	1		1	RAB3C	5	57913622	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		57913622	123001638	16	13300											
MAP1B	4131	broad.mit.edu	37	chr5	71493036	71493036	+	Frame_Shift_Del	DEL	A	A	-																															cttctctctgacgcccaatgAgattaaagtctctgcagagg																										TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:71493036delA	uc003kbw.4	+	4	4095	c.3854delA	c.(3853-3855)gagfs	p.E1285fs	MAP1B_uc010iyw.1_Frame_Shift_Del_p.E1302fs|MAP1B_uc010iyx.1_Frame_Shift_Del_p.E1159fs|MAP1B_uc010iyy.1_Frame_Shift_Del_p.E1159fs	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1285						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACGCCCAATGAGATTAAAGTC	0.527													-	71493036	A	-	71493036	7	5	192	1	0	1	0	1	0	0	0	0	9303	304	11	0	3872	0	MAP1B	5	71493036	Frame_Shift_Del	DEL	A	TCGA-27-2519-01A-01D-1494-08	13579414	71493036	109422224	17	13301											
SV2C	22987	broad.mit.edu	37	chr5	75428035	75428035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcgttttcagtgggccCttttcttcgtcctgggcatg	3	16	12	10	2	2	0	1	0	1	0	5	0	3	0	2	3	0	2	2	3	0	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:75428035C>A	uc003kei.1	+	1	594	c.460C>A	c.(460-462)Ctt>Att	p.L154I		NM_014979	NP_055794	Q496J9	SV2C_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2C (SV2C), mRNA.	154					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		TCAGTGGGCCCTTTTCTTCGT	0.527													A	75428035	C	A	75428035	3	1	192	1	0	0	0	0	1	0	0	0	15515	681	24	4	462	4	SV2C	5	75428035	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	3934999	75428035	105487225	18	13302											
GABRA1	2554	broad.mit.edu	37	chr5	161324208	161324208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttggccaggggcgaccCgggcttagccaccattgcta	8	9	12	12	2	0	0	0	0	0	0	0	1	0	0	4	4	2	2	4	4	3	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr5:161324208C>T	uc010jiw.3	+	10	1619	c.1151C>T	c.(1150-1152)cCg>cTg	p.P384L	GABRA1_uc010jix.3_Missense_Mutation_p.P384L|GABRA1_uc010jiy.3_Missense_Mutation_p.P384L|GABRA1_uc003lyx.4_Missense_Mutation_p.P384L|GABRA1_uc010jiz.3_Missense_Mutation_p.P384L|GABRA1_uc010jja.3_Missense_Mutation_p.P384L|GABRA1_uc010jjb.3_Missense_Mutation_p.P384L	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	384					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.P384Q(2)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AGGGGCGACCCGGGCTTAGCC	0.458													T	161324208	C	T	161324208	3	4	192	1	0	0	0	0	1	0	0	0	6212	652	23	1	1185	1	GABRA1	5	161324208	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	85896173	161324208	19591052	19	13303											
PKHD1	5314	broad.mit.edu	37	chr6	51910930	51910930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacctggatgtgaagtcatCggcattattctgtaagagct	10	13	11	7	1	2	2	1	1	1	1	3	3	2	3	1	2	2	4	1	2	4	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:51910930C>T	uc003pah.1	-	23	2740	c.2464G>A	c.(2464-2466)Gat>Aat	p.D822N	PKHD1_uc003pai.3_Missense_Mutation_p.D822N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	822					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGAAGTCATCGGCATTATTC	0.443													T	51910930	C	T	51910930	3	4	192	1	0	0	0	0	1	0	0	0	12048	884	31	1	9975	1	PKHD1	6	51910930	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		51910930	119204137	20	13304											
EZR	7430	broad.mit.edu	37	chr6	159192358	159192358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtcaggcttcctgcggcGcatatacaactcatggttgc	7	11	12	11	2	2	0	2	0	0	0	3	0	3	0	1	4	4	3	1	4	3	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr6:159192358G>A	uc003qrt.4	-	7	1092	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	EZR_uc011efr.2_5'Flank|EZR_uc011efs.2_Missense_Mutation_p.R261C|EZR_uc003qru.4_Missense_Mutation_p.R293C	NM_003379	NP_003370	P15311	EZRI_HUMAN	Homo sapiens ezrin (EZR), transcript variant 1, mRNA.	293	FERM.|Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TTCCTGCGGCGCATATACAAC	0.572			T	ROS1	NSCLC								A	159192358	G	A	159192358	3	1	192	1	0	0	0	0	1	0	0	0	5377	1087	38	1	907	1	EZR	6	159192358	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	107281428	159192358	11922709	21	13305											
FAM126A	84668	broad.mit.edu	37	chr7	22985627	22985627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttgcttcctcctgaccGtctgtggttctttcctatac	4	18	7	12	1	2	1	0	1	2	0	5	1	5	1	4	1	2	3	4	1	2	7			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:22985627G>A	uc003svm.4	-	10	1402	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	FAM126A_uc003svn.4_3'UTR	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	383						cytoplasm|membrane	signal transducer activity	p.R383Q(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						CCTCCTGACCGTCTGTGGTTC	0.438													A	22985627	G	A	22985627	3	1	192	1	0	0	0	0	1	0	0	0	5474	1144	40	1	422	1	FAM126A	7	22985627	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		22985627	136153036	22	13306											
AMPH	273	broad.mit.edu	37	chr7	38516566	38516566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgcgcttggcgatgcGattctgtcaacaggaaatgc	8	10	12	11	3	2	0	1	0	1	0	2	3	2	1	1	2	5	2	1	2	2	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:38516566G>A	uc003tgu.3	-	5	616	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	AMPH_uc003tgv.3_Missense_Mutation_p.R134C	NM_001635	NP_001626	P49418	AMPH_HUMAN	Homo sapiens amphiphysin (AMPH), transcript variant 1, mRNA.	134	BAR.				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTGGCGATGCGATTCTGTCAA	0.522													A	38516566	G	A	38516566	3	1	192	1	0	0	0	0	1	0	0	0	588	1058	37	1	1751	1	AMPH	7	38516566	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	15530939	38516566	120622097	23	13307											
ABCA13	154664	broad.mit.edu	37	chr7	48287865	48287865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcaagaggtcattacttgGcacaaaaatatgtcagtttt	13	14	8	6	0	2	1	2	0	0	1	2	1	2	1	0	2	2	3	0	2	5	6			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:48287865G>T	uc003toq.2	+	13	1713	c.1689G>T	c.(1687-1689)tgG>tgT	p.W563C	ABCA13_uc010kyr.2_Missense_Mutation_p.W66C	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	563					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCATTACTTGGCACAAAAATA	0.388													T	48287865	G	T	48287865	3	4	192	1	0	0	0	0	1	0	0	0	31	1212	42	4	1572	4	ABCA13	7	48287865	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	9771299	48287865	110850798	24	13308											
TRPV6	55503	broad.mit.edu	37	chr7	142572296	142572296	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggaatcctcgggcgaagTacatgacgttgcaccagccc	9	8	11	13	3	1	1	0	1	1	0	3	3	2	2	3	2	3	3	3	2	3	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:142572296T>A	uc003wbx.2	-	10	1629	c.1400A>T	c.(1399-1401)tAc>tTc	p.Y467F	TRPV6_uc003wbw.1_Missense_Mutation_p.Y253F|TRPV6_uc010lou.1_Missense_Mutation_p.Y338F	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	467					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCGGGCGAAGTACATGACGTT	0.582													A	142572296	T	A	142572296	3	1	192	1	0	0	0	0	1	0	0	0	16701	1638	57	5	797	5	TRPV6	7	142572296	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	94284431	142572296	16566367	25	13309											
ARHGEF5	7984	broad.mit.edu	37	chr7	144062310	144062310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcatagaccctcccaccGaaccacccccattgccccca	10	5	3	23	1	1	1	1	0	0	1	2	2	2	1	9	0	2	0	9	0	2	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:144062310G>A	uc003wel.3	+	1	2666	c.2548G>A	c.(2548-2550)Gaa>Aaa	p.E850K	ARHGEF5_uc003wek.3_Missense_Mutation_p.E850K|ARHGEF5_uc003wem.3_5'Flank	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	850					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					CCCTCCCACCGAACCACCCCC	0.587													A	144062310	G	A	144062310	3	1	192	1	0	0	0	0	1	0	0	0	912	1059	37	1	2550	1	ARHGEF5	7	144062310	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	1490014	144062310	15076353	26	13310											
ZNF786	136051	broad.mit.edu	37	chr7	148768162	148768162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttgccacactcccCgcacgagaacggcctctcct	8	6	8	19	3	1	1	0	0	1	1	3	3	2	1	6	1	3	1	6	1	2	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:148768162C>T	uc003wfh.2	-	3	1839	c.1702G>A	c.(1702-1704)Ggg>Agg	p.G568R	ZNF786_uc011kuk.1_Missense_Mutation_p.G531R|ZNF786_uc003wfi.2_Missense_Mutation_p.G482R	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	568					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCACACTCCCCGCACGAGAAC	0.632													T	148768162	C	T	148768162	3	4	192	1	0	0	0	0	1	0	0	0	18257	652	23	1	650	1	ZNF786	7	148768162	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	4705852	148768162	10370501	27	13311											
HTR5A	3361	broad.mit.edu	37	chr7	154875908	154875908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatggtgttcacggtccGccacgccaccgtcaccttcc	6	8	9	18	4	2	1	2	0	0	1	4	1	4	1	7	2	0	1	7	2	0	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr7:154875908G>A	uc003wlu.1	+	1	849	c.785G>A	c.(784-786)cGc>cAc	p.R262H		NM_024012	NP_076917	P47898	5HT5A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 5A (HTR5A), mRNA.	262			R -> C (in a colorectal cancer sample; somatic mutation).			integral to plasma membrane	serotonin receptor activity	p.R262C(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		TTCACGGTCCGCCACGCCACC	0.607													A	154875908	G	A	154875908	3	1	192	1	0	0	0	0	1	0	0	0	7508	1087	38	1	791	1	HTR5A	7	154875908	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	6107746	154875908	4262755	28	13312											
TEX15	56154	broad.mit.edu	37	chr8	30701172	30701172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacattcattaacctgtcGtttgtactttaagaatacat	12	17	4	8	1	2	1	2	0	0	1	3	1	2	1	1	0	3	2	1	0	5	8			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:30701172G>A	uc003xil.3	-	0	5362	c.5362C>T	c.(5362-5364)Cga>Tga	p.R1788*		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	1788										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTAACCTGTCGTTTGTACTTT	0.343													A	30701172	G	A	30701172	4	1	192	1	0	0	0	0	0	1	0	0	15879	1153	40	1	3023	1	TEX15	8	30701172	Nonsense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		30701172	115662850	29	13313											
TRIM55	84675	broad.mit.edu	37	chr8	67040581	67040581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagaggaggtaccaccatgGcatcagggggccgattccgc	10	5	14	12	2	1	1	1	0	0	1	2	3	2	2	4	5	1	2	4	5	2	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:67040581G>T	uc003xvv.3	+	1	437	c.211G>T	c.(211-213)Gca>Tca	p.A71S	TRIM55_uc003xvu.3_Missense_Mutation_p.A71S|TRIM55_uc003xvw.3_Missense_Mutation_p.A71S|TRIM55_uc003xvx.3_Missense_Mutation_p.A71S	NM_184085	NP_908973	Q9BYV6	TRI55_HUMAN	Homo sapiens tripartite motif containing 55 (TRIM55), transcript variant 1, mRNA.	71						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			TACCACCATGGCATCAGGGGG	0.493													T	67040581	G	T	67040581	3	4	192	1	0	0	0	0	1	0	0	0	16630	1203	42	4	217	4	TRIM55	8	67040581	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	36339409	67040581	79323441	30	13314											
ZHX2	22882	broad.mit.edu	37	chr8	123965254	123965254	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggcatcgtccacatcAccagcgaatcccttgccaaa	13	6	8	14	2	1	0	1	0	0	0	4	1	3	0	4	2	2	1	4	2	3	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:123965254A>C	uc022bag.1	+	0	1504	c.1504A>C	c.(1504-1506)Acc>Ccc	p.T502P	ZHX2_uc003ypk.1_Missense_Mutation_p.T502P	NM_014943	NP_055758	Q9Y6X8	ZHX2_HUMAN	Homo sapiens zinc fingers and homeoboxes 2 (ZHX2), mRNA.	502						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CGTCCACATCACCAGCGAATC	0.572													C	123965254	A	C	123965254	3	2	192	1	0	0	0	0	1	0	0	0	17777	159	6	5	1506	5	ZHX2	8	123965254	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08	56924673	123965254	22398768	31	13315											
FER1L6	654463	broad.mit.edu	37	chr8	125110086	125110086	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttagaggatgagaatatCttcacaggccaaaaatcaag	17	10	8	6	0	3	2	2	1	1	2	3	4	3	3	1	2	0	0	1	2	6	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr8:125110086C>A	uc003yqw.3	+	36	5051	c.4845C>A	c.(4843-4845)atC>atA	p.I1615I	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1615	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATGAGAATATCTTCACAGGCC	0.408													A	125110086	C	A	125110086	2	1	192	1	0	0	0	0	0	0	0	1	5864	903	32	4		4	FER1L6	8	125110086	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08	1144832	125110086	21253936	32	13316											
RAD23B	5887	broad.mit.edu	37	chr9	110084381	110084383	+	In_Frame_Del	DEL	ACA	ACA	-																															caactacgacagcaacaactAcaacaacaagttctggaggt																										TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:110084381_110084383delACA	uc004bde.3	+	6	1193_1195	c.799_801delACA	c.(799-801)acadel	p.T269del	RAD23B_uc011lwa.2_In_Frame_Del_p.T269del|RAD23B_uc022blj.1_In_Frame_Del_p.T197del|RAD23B_uc011lwb.2_In_Frame_Del_p.T248del	NM_002874	NP_002865	P54727	RD23B_HUMAN	Homo sapiens RAD23 homolog B (S. cerevisiae) (RAD23B), transcript variant 1, mRNA.	269	Poly-Thr.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCAACAACTACAACAACAAGTT	0.468								Direct reversal of damage;Nucleotide excision repair (NER)					-	110084383	ACA	-	110084381	7	5	192	1	0	1	0	1	0	0	0	0	13071	391	14	0	825	0	RAD23B	9	110084381	In_Frame_Del	DEL	ACA	TCGA-27-2519-01A-01D-1494-08		110084381	31129050	33	13317											
PTPN3	5774	broad.mit.edu	37	chr9	112153417	112153417	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatccagattcctaacttaCgttcacgtaacttgcattaa	12	14	4	11	2	2	1	2	0	0	1	4	1	4	1	2	0	4	3	2	0	4	7			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr9:112153417C>T	uc004bed.2	-	21	2218	c.2106_splice	c.e21+1	p.N702_splice	PTPN3_uc004beb.2_Splice_Site_p.N571_splice|PTPN3_uc004bec.2_Splice_Site_p.N526_splice|PTPN3_uc010mtu.2_Splice_Site|PTPN3_uc011lwg.1_Splice_Site_p.N657_splice|PTPN3_uc011lwh.1_Splice_Site_p.N548_splice|PTPN3_uc011lwd.1_Splice_Site_p.N170_splice|PTPN3_uc011lwe.1_Splice_Site_p.N415_splice|PTPN3_uc011lwf.1_Splice_Site_p.N370_splice	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	702	Tyrosine-protein phosphatase.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TCCTAACTTACGTTCACGTAA	0.458													T	112153417	C	T	112153417	5	4	192	1	0	0	0	0	0	0	1	0	12877	550	19	1	658	1	PTPN3	9	112153417	Splice_Site	SNP	C	TCGA-27-2519-01A-01D-1494-08	2069036	112153417	29060014	34	13318											
C10orf113	387638	broad.mit.edu	37	chr10	21435284	21435284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actctacctgttcatgtctgGaatgtacatttcagccacac	10	13	6	12	0	4	0	2	0	2	0	4	1	4	1	2	1	3	2	2	1	3	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:21435284G>A	uc001iqm.3	-	0	205	c.154C>T	c.(154-156)Cca>Tca	p.P52S	NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron|C10orf113_uc021pnv.1_Missense_Mutation_p.P52S	NM_001010896	NP_001010896	Q5VZT2	CJ113_HUMAN	Homo sapiens chromosome 10 open reading frame 113 (C10orf113), transcript variant 1, mRNA.	52										endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|pancreas(1)	7						TTCATGTCTGGAATGTACATT	0.443													A	21435284	G	A	21435284	3	1	192	1	0	0	0	0	1	0	0	0	1595	1174	41	2	356	2	C10orf113	10	21435284	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		21435284	114099463	35	13319											
PTEN	5728	broad.mit.edu	37	chr10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactattcccagtcagaggCgctatgtgtattattatagc	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	2	1	1	7	8	rs121913293		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:89711899C>T	uc001kfb.3	+	5	1549	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173C(69)|p.0?(37)|p.R173H(24)|p.R55fs*1(5)|p.?(4)|p.R173fs*10(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173P(1)|p.R173R(1)|p.R172W(1)|p.R172R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89711899	C	T	89711899	3	4	192	1	0	0	0	0	1	0	0	0	12823	768	27	1	539	1	PTEN	10	89711899	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	68276615	89711899	45822848	36	13320											
DNMBP	23268	broad.mit.edu	37	chr10	101654794	101654794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttctgtttcttcaaatActtcatcttttatctgttca	7	24	2	8	0	7	0	3	0	4	0	7	0	7	0	0	0	1	2	0	0	3	10			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:101654794A>G	uc001kqj.2	-	10	3157	c.3065T>C	c.(3064-3066)gTa>gCa	p.V1022A	DNMBP_uc010qpl.1_5'UTR|DNMBP_uc001kqg.2_Missense_Mutation_p.V310A|DNMBP_uc001kqh.2_Missense_Mutation_p.V654A	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	1022	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TTCTTCAAATACTTCATCTTT	0.353													G	101654794	A	G	101654794	3	3	192	1	0	0	0	0	1	0	0	0	4713	391	14	3	1696	3	DNMBP	10	101654794	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08	11942895	101654794	33879953	37	13321											
SORCS1	114815	broad.mit.edu	37	chr10	108389034	108389034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcacggtcacacggaaaatgCccacgttctgatagacgtgt	11	8	11	11	4	2	2	1	1	1	1	2	3	2	3	1	2	1	2	1	2	3	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:108389034C>T	uc001kyl.3	-	18	2770	c.2588G>A	c.(2587-2589)gGc>gAc	p.G863D	SORCS1_uc021pxw.1_Missense_Mutation_p.G863D|SORCS1_uc009xxs.3_Missense_Mutation_p.G863D|SORCS1_uc001kym.3_Missense_Mutation_p.G863D|SORCS1_uc001kyn.2_Missense_Mutation_p.G863D|SORCS1_uc001kyo.3_Missense_Mutation_p.G863D	NM_001013031	NP_001013049	Q8WY21	SORC1_HUMAN	Homo sapiens sortilin-related VPS10 domain containing receptor 1 (SORCS1), transcript variant 2, mRNA.	863	PKD.					integral to membrane	neuropeptide receptor activity|protein binding	p.G863D(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACGGAAAATGCCCACGTTCTG	0.483													T	108389034	C	T	108389034	3	4	192	1	0	0	0	0	1	0	0	0	15024	739	26	2	1184	2	SORCS1	10	108389034	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	6734240	108389034	27145713	38	13322											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119798511	119798511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcattatatttgaagcccTgaattttgctgtaaatggat	11	16	9	5	0	0	2	0	2	0	0	0	3	0	3	1	2	2	3	1	2	6	6			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr10:119798511T>C	uc001ldj.2	-	2	1677	c.1237A>G	c.(1237-1239)Agg>Ggg	p.R413G	RAB11FIP2_uc009xyz.2_Missense_Mutation_p.R413G	NM_014904	NP_055719	Q7L804	RFIP2_HUMAN	Homo sapiens RAB11 family interacting protein 2 (class I) (RAB11FIP2), mRNA.	413					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTTGAAGCCCTGAATTTTGCT	0.343													C	119798511	T	C	119798511	3	2	192	1	0	0	0	0	1	0	0	0	12982	1579	55	3	313	3	RAB11FIP2	10	119798511	Missense_Mutation	SNP	T	TCGA-27-2519-01A-01D-1494-08	11409477	119798511	15736236	39	13323											
GRM5	2915	broad.mit.edu	37	chr11	88780659	88780659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagccatccacacagcGtaccaagccttcttcctctt	9	9	8	15	1	2	0	0	0	2	0	4	2	4	2	5	2	4	1	5	2	2	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr11:88780659G>A	uc001pcq.3	-	0	582	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	GRM5_uc009yvm.3_Missense_Mutation_p.R128C|GRM5_uc009yvn.2_Missense_Mutation_p.R128C	NM_001143831	NP_001137303	P41594	GRM5_HUMAN	Homo sapiens glutamate receptor, metabotropic 5 (GRM5), transcript variant a, mRNA.	128					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.R128H(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCCACACAGCGTACCAAGCCT	0.522													A	88780659	G	A	88780659	3	1	192	1	0	0	0	0	1	0	0	0	6855	1145	40	1	3292	1	GRM5	11	88780659	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		88780659	46225857	40	13324											
ANO4	121601	broad.mit.edu	37	chr12	101480464	101480464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgattgctgccgtgttCgggatcgtcatttaccgggt	4	14	15	8	4	1	1	1	1	0	0	3	2	1	2	2	3	3	2	2	3	1	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr12:101480464C>T	uc010svm.1	+	16	2135	c.1563C>T	c.(1561-1563)ttC>ttT	p.F521F	ANO4_uc001thw.2_Silent_p.F486F|ANO4_uc001thx.2_Silent_p.F521F|ANO4_uc001thy.2_Silent_p.F41F	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	521						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CTGCCGTGTTCGGGATCGTCA	0.517										HNSCC(74;0.22)			T	101480464	C	T	101480464	2	4	192	1	0	0	0	0	0	0	0	1	699	883	31	1		1	ANO4	12	101480464	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		101480464	32371431	41	13325											
EML1	2009	broad.mit.edu	37	chr14	100363508	100363508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacaggggtcgagactgccGtaacaacctgtacttgcttc	9	10	11	11	2	0	1	0	0	0	1	2	2	0	1	2	2	6	4	2	2	4	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr14:100363508G>A	uc001ygr.3	+	7	830	c.761G>A	c.(760-762)cGt>cAt	p.R254H	EML1_uc010avt.1_Missense_Mutation_p.R222H|EML1_uc010tww.2_Missense_Mutation_p.R223H|EML1_uc001ygq.3_Missense_Mutation_p.R254H|EML1_uc001ygs.3_Missense_Mutation_p.R235H	NM_001008707	NP_001008707	O00423	EMAL1_HUMAN	Homo sapiens echinoderm microtubule associated protein like 1 (EML1), transcript variant 1, mRNA.	235						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CGAGACTGCCGTAACAACCTG	0.468													A	100363508	G	A	100363508	3	1	192	1	0	0	0	0	1	0	0	0	5137	1145	40	1	791	1	EML1	14	100363508	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		100363508	6986032	42	13326											
CIB2	10518	broad.mit.edu	37	chr15	78403609	78403609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagctcatagaatcgCgaatgcagccttggaggaaa	12	6	14	9	2	1	1	1	0	0	1	2	4	1	3	2	4	3	2	2	4	4	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr15:78403609C>T	uc010ums.1	-	2	417	c.96G>A	c.(94-96)tcG>tcA	p.S32S	CIB2_uc002bdb.1_Silent_p.S32S|CIB2_uc002bdc.1_5'UTR	NM_006383	NP_006374	O75838	CIB2_HUMAN	Homo sapiens calcium and integrin binding family member 2 (CIB2), mRNA.	32							calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						CATAGAATCGCGAATGCAGCC	0.612													T	78403609	C	T	78403609	2	4	192	1	0	0	0	0	0	0	0	1	3451	755	27	1		1	CIB2	15	78403609	Silent	SNP	C	TCGA-27-2519-01A-01D-1494-08		78403609	24127783	43	13327											
ACSM2B	348158	broad.mit.edu	37	chr16	20570756	20570756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagggctgggcttgggAgtcgcttgccagcctgagga	7	7	16	11	1	0	1	0	1	0	0	1	3	0	3	3	4	2	3	3	4	0	2	rs74479331		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr16:20570756A>G	uc002dhj.4	-	3	401	c.191T>C	c.(190-192)cTc>cCc	p.L64P	ACSM2B_uc002dhk.4_Missense_Mutation_p.L64P|ACSM2B_uc010bwf.1_Missense_Mutation_p.L64P	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	64					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.L64P(2)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGGGCTTGGGAGTCGCTTGCC	0.512													G	20570756	A	G	20570756	3	3	192	1	0	0	0	0	1	0	0	0	184	304	11	3	1590	3	ACSM2B	16	20570756	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08		20570756	69783997	44	13328											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Frame_Shift_Del	DEL	G	G	-																															attctcttcctctgtgcgccGgtctctcccaggacaggcac																								rs28934574		TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:7577094delG	uc002gim.2	-	7	1038	c.844delC	c.(844-846)cggfs	p.R282fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.R282fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.R150fs|TP53_uc010cnf.1_Frame_Shift_Del_p.R150fs|TP53_uc002gii.1_Frame_Shift_Del_p.R150fs|TP53_uc010cni.1_Frame_Shift_Del_p.R282fs|TP53_uc010cnh.1_Frame_Shift_Del_p.R282fs|TP53_uc002gij.2_Frame_Shift_Del_p.R282fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(805)|p.R282G(57)|p.D281E(28)|p.D281N(26)|p.R282Q(24)|p.D281H(19)|p.R282P(16)|p.R282R(12)|p.D281Y(11)|p.D281G(10)|p.0?(8)|p.R282fs*24(7)|p.D281D(5)|p.D281fs*63(4)|p.D281V(4)|p.D281_R282>EW(4)|p.R282L(3)|p.A276_R283delACPGRDRR(2)|p.R282_E287delRRTEEE(2)|p.C275_R283delCACPGRDRR(2)|p.D281_R282insXX(2)|p.?(2)|p.L265_K305del41(2)|p.R282H(2)|p.R280_D281delRD(2)|p.V272_K292del21(2)|p.R282fs*63(2)|p.D281_R282delDR(2)|p.D281A(2)|p.D281fs*24(1)|p.R280fs*62(1)|p.G279fs*59(1)|p.F270_D281del12(1)|p.S269fs*21(1)|p.C275fs*20(1)|p.D281R(1)|p.D281>AGPY(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			-	7577094	G	-	7577094	7	5	192	1	0	1	0	1	0	0	0	0	16482	1115	39	0	442	0	TP53	17	7577094	Frame_Shift_Del	DEL	G	TCGA-27-2519-01A-01D-1494-08		7577094	73618116	45	13329											
SGCA	6442	broad.mit.edu	37	chr17	48245006	48245006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggacacccagacctgccccGgtggctccgctacacccagc	7	4	11	19	2	0	1	0	0	0	1	1	2	1	2	6	3	3	2	6	3	1	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr17:48245006G>A	uc002iqi.3	+	2	257	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	SGCA_uc010wmh.1_Intron|SGCA_uc002iqj.3_Missense_Mutation_p.R74Q|SGCA_uc010wmi.2_Non-coding_Transcript	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	74			R -> W (in LGMD2D).		muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding	p.P73P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						GACCTGCCCCGGTGGCTCCGC	0.657													A	48245006	G	A	48245006	3	1	192	1	0	0	0	0	1	0	0	0	14292	1116	39	1	231	1	SGCA	17	48245006	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	40667912	48245006	32950204	46	13330											
ARHGAP28	79822	broad.mit.edu	37	chr18	6859897	6859897	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcccaggagtgactctgtgGtaagtcatccatgtcagcac	9	11	10	11	0	3	1	2	1	1	0	5	2	5	2	2	2	1	2	2	2	1	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr18:6859897G>T	uc002knc.3	+	5	3781	c.570_splice	c.e5+1	p.V190_splice	ARHGAP28_uc002kne.3_Splice_Site_p.V83_splice|ARHGAP28_uc010wzi.2_Splice_Site_p.V65_splice|ARHGAP28_uc002knf.3_Splice_Site_p.V74_splice	NM_001010000	NP_001010000	B4DXL2	B4DXL2_HUMAN	Homo sapiens Rho GTPase activating protein 28 (ARHGAP28), mRNA.	65					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGACTCTGTGGTAAGTCATCC	0.428													T	6859897	G	T	6859897	5	4	192	1	0	0	0	0	0	0	1	0	880	1275	44	4	260	4	ARHGAP28	18	6859897	Splice_Site	SNP	G	TCGA-27-2519-01A-01D-1494-08		6859897	71217351	47	13331											
SIGLEC11	114132	broad.mit.edu	37	chr19	50462137	50462137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaccgggagggatgtgcCgttcccgaggttttccagga	7	8	16	10	3	0	0	0	0	0	0	2	5	2	4	4	5	1	2	4	5	0	3	rs142292396	byFrequency	TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:50462137C>A	uc010ybh.2	-	6	1217	c.1126G>T	c.(1126-1128)Ggc>Tgc	p.G376C	SIGLEC11_uc010ybi.2_Missense_Mutation_p.G376C	NM_052884	NP_443116	Q96RL6	SIG11_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 11 (SIGLEC11), transcript variant 1, mRNA.	376	Ig-like C2-type 3.				cell adhesion	integral to membrane	sugar binding	p.R376S(1)|p.R376R(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGGGATGTGCCGTTCCCGAGG	0.662													A	50462137	C	A	50462137	3	1	192	1	0	0	0	0	1	0	0	0	14401	652	23	4	990	4	SIGLEC11	19	50462137	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08		50462137	8666846	48	13332											
KLK15	55554	broad.mit.edu	37	chr19	51329907	51329907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgcctctgccctccgcGcctgcacacaccatggtgtt	4	10	9	18	3	2	0	0	0	2	0	3	0	3	0	5	1	3	2	5	1	0	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:51329907G>A	uc002ptl.3	-	3	619	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KLK1_uc002ptk.1_5'Flank|KLK1_uc010ycg.1_5'Flank|KLK15_uc002ptm.3_Intron|KLK15_uc002ptn.3_Intron|KLK15_uc002pto.3_Silent_p.G195G|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Intron|KLK15_uc010eod.3_Intron	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	196	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGCCCTCCGCGCCTGCACACA	0.582													A	51329907	G	A	51329907	2	1	192	1	0	0	0	0	0	0	0	1	8461	1074	38	1		1	KLK15	19	51329907	Silent	SNP	G	TCGA-27-2519-01A-01D-1494-08	867770	51329907	7799076	49	13333											
BRSK1	84446	broad.mit.edu	37	chr19	55814187	55814187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagagcatggcatcactggGctgcttcagggaccgcgaga	10	6	15	10	2	2	2	2	0	0	2	2	5	2	3	1	3	2	4	1	3	0	1			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr19:55814187G>C	uc002qkf.3	+	11	1155	c.1028G>C	c.(1027-1029)gGc>gCc	p.G343A	BRSK1_uc021vbs.1_Missense_Mutation_p.G327A|BRSK1_uc002qkg.3_Missense_Mutation_p.G327A|BRSK1_uc002qkh.3_Missense_Mutation_p.G22A|Mir_324_uc021vbt.1_5'Flank	NM_032430	NP_115806	Q8TDC3	BRSK1_HUMAN	Homo sapiens BR serine/threonine kinase 1 (BRSK1), mRNA.	327	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity	p.G327D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		GCATCACTGGGCTGCTTCAGG	0.682													C	55814187	G	C	55814187	3	2	192	1	0	0	0	0	1	0	0	0	1532	1203	42	4	1018	4	BRSK1	19	55814187	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	4484280	55814187	3314796	50	13334											
TM9SF4	9777	broad.mit.edu	37	chr20	30745712	30745712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatatgacaaccctgtgcGcaccaaccagattccccggc	10	6	8	17	2	0	2	0	1	0	1	1	2	1	2	6	1	3	1	6	1	3	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:30745712G>A	uc002wxj.2	+	13	1680	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H	TM9SF4_uc010zts.1_Missense_Mutation_p.R389H|TM9SF4_uc002wxk.2_Missense_Mutation_p.R465H	NM_014742	NP_055557	Q92544	TM9S4_HUMAN	Homo sapiens transmembrane 9 superfamily protein member 4 (TM9SF4), mRNA.	482						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AACCCTGTGCGCACCAACCAG	0.587													A	30745712	G	A	30745712	3	1	192	1	0	0	0	0	1	0	0	0	16080	1087	38	1	1499	1	TM9SF4	20	30745712	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		30745712	32279808	51	13335											
MC3R	4159	broad.mit.edu	37	chr20	54824428	54824428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcggcgtctgtggcGtggtgttcatcgtctactcg	2	14	14	11	5	4	0	1	0	3	0	6	0	4	0	0	3	3	2	0	3	1	2			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr20:54824428G>A	uc002xxb.2	+	0	641	c.529G>A	c.(529-531)Gtg>Atg	p.V177M		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	214					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CGTCTGTGGCGTGGTGTTCAT	0.562													A	54824428	G	A	54824428	3	1	192	1	0	0	0	0	1	0	0	0	9440	1145	40	1	531	1	MC3R	20	54824428	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08	24078716	54824428	8201092	52	13336											
HUNK	30811	broad.mit.edu	37	chr21	33370854	33370854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagattcctttggctgccGcaatattttccgcaaaacct	9	13	7	12	2	0	1	0	0	0	1	2	1	2	1	4	1	3	4	4	1	4	5			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chr21:33370854G>A	uc002yph.3	+	10	1862	c.1502G>A	c.(1501-1503)cGc>cAc	p.R501H		NM_014586	NP_055401	P57058	HUNK_HUMAN	Homo sapiens hormonally up-regulated Neu-associated kinase (HUNK), mRNA.	501					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTTGGCTGCCGCAATATTTTC	0.527													A	33370854	G	A	33370854	3	1	192	1	0	0	0	0	1	0	0	0	7516	1087	38	1	1544	1	HUNK	21	33370854	Missense_Mutation	SNP	G	TCGA-27-2519-01A-01D-1494-08		33370854	14759041	53	13337											
ARSF	416	broad.mit.edu	37	chrX	2994636	2994636	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcgtgcgactgactcAgcacatctctgccgcctccc	7	7	11	16	3	2	1	1	1	1	0	4	3	3	2	3	2	3	1	3	2	1	0			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:2994636A>C	uc022brz.1	+	3	345	c.209A>C	c.(208-210)cAg>cCg	p.Q70P	ARSF_uc004cre.2_Missense_Mutation_p.Q70P|ARSF_uc004crf.2_Missense_Mutation_p.Q70P	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	70						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CGACTGACTCAGCACATCTCT	0.637													C	2994636	A	C	2994636	3	2	192	1	0	0	0	0	1	0	0	0	996	188	7	5	219	5	ARSF	23	2994636	Missense_Mutation	SNP	A	TCGA-27-2519-01A-01D-1494-08		2994636	152275924	54	13338											
PHKA1	5255	broad.mit.edu	37	chrX	71821869	71821869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgagattgacagtctaCgaaattccacctgaaacata	15	9	7	10	1	1	3	0	3	1	1	2	5	2	3	2	0	3	1	2	0	4	4			TCGA-27-2519-01A-01D-1494-08	TCGA-27-2519-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0daafab-b783-4cfc-9f7d-8017d98e80bb	8c4df672-e807-4afa-aa62-d2574c5fe0ef	g.chrX:71821869C>T	uc004eax.4	-	27	3345	c.3044G>A	c.(3043-3045)cGt>cAt	p.R1015H	PHKA1_uc004eay.4_Intron|PHKA1_uc011mqi.2_Intron	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	1015					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1015C(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					TGACAGTCTACGAAATTCCAC	0.358													T	71821869	C	T	71821869	3	4	192	1	0	0	0	0	1	0	0	0	11920	536	19	1	647	1	PHKA1	23	71821869	Missense_Mutation	SNP	C	TCGA-27-2519-01A-01D-1494-08	68827233	71821869	83448691	55	13339											
NPHP4	261734	broad.mit.edu	37	chr1	5969267	5969267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcgaggtactggcgctGgcgggcctgggaggaagcac	8	5	18	10	3	0	0	0	0	0	0	1	4	0	2	1	6	3	3	1	6	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:5969267G>C	uc001alq.2	-	11	1716	c.1448C>G	c.(1447-1449)cCa>cGa	p.P483R	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Intron|NPHP4_uc001alt.2_Intron	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	483					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TACTGGCGCTGGCGGGCCTGG	0.642													C	5969267	G	C	5969267	3	2	193	1	0	0	0	0	1	0	0	0	10657	1348	47	4	2908	4	NPHP4	1	5969267	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		5969267	243281354	1	13340											
PRAMEF2	65122	broad.mit.edu	37	chr1	12918957	12918957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgccatggaggagctGcccagggtgctctatctccc	6	10	11	14	0	3	0	0	0	3	0	5	2	3	2	3	3	4	2	3	3	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:12918957G>A	uc001aum.1	+	1	180	c.93G>A	c.(91-93)ctG>ctA	p.L31L		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	31										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGAGGAGCTGCCCAGGGTGC	0.622													A	12918957	G	A	12918957	2	1	193	1	0	0	0	0	0	0	0	1	12518	1306	46	2		2	PRAMEF2	1	12918957	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	6949690	12918957	236331664	2	13341											
MACF1	23499	broad.mit.edu	37	chr1	39753206	39753206	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctccgatttgtgtatgAactactgtcttgggtagaag	10	14	10	7	1	2	2	0	1	2	1	3	3	2	2	1	1	2	2	1	1	6	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:39753206A>T	uc021olt.1	+	13	1824	c.1772A>T	c.(1771-1773)gAa>gTa	p.E591V	MACF1_uc021ols.1_Missense_Mutation_p.E591V|MACF1_uc001cdc.2_Missense_Mutation_p.E591V|MACF1_uc001cda.1_Missense_Mutation_p.E499V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	591					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTTGTGTATGAACTACTGTCT	0.463													T	39753206	A	T	39753206	3	4	193	1	0	0	0	0	1	0	0	0	9215	246	9	5	1826	5	MACF1	1	39753206	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	26834249	39753206	209497415	3	13342											
FAAH	2166	broad.mit.edu	37	chr1	46871972	46871972	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcctggcactgtgcctgCgagccctgctgtgtgaggac	6	8	15	12	1	0	2	0	1	0	1	0	4	0	3	3	2	5	2	3	2	0	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:46871972C>T	uc001cpu.2	+	6	965	c.883C>T	c.(883-885)Cga>Tga	p.R295*	FAAH_uc001cpv.2_Intron	NM_001441	NP_001432	O00519	FAAH1_HUMAN	Homo sapiens fatty acid amide hydrolase (FAAH), mRNA.	295					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	ACTGTGCCTGCGAGCCCTGCT	0.642											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46871972	C	T	46871972	4	4	193	1	0	0	0	0	0	1	0	0	5398	760	27	1	909	1	FAAH	1	46871972	Nonsense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	7118766	46871972	202378649	4	13343											
HOOK1	51361	broad.mit.edu	37	chr1	60312821	60312821	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgactagtcttgcagaagAaacaagagccctgaaagatg	16	8	10	7	0	1	6	0	2	1	4	1	6	1	6	1	0	3	1	1	0	5	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:60312821A>T	uc009wad.3	+	10	995	c.893A>T	c.(892-894)gAa>gTa	p.E298V	HOOK1_uc001czo.3_Missense_Mutation_p.E298V|HOOK1_uc001czp.3_Non-coding_Transcript|HOOK1_uc010oor.2_Missense_Mutation_p.E256V	NM_015888	NP_056972	Q9UJC3	HOOK1_HUMAN	Homo sapiens hook homolog 1 (Drosophila) (HOOK1), mRNA.	298	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					CTTGCAGAAGAAACAAGAGCC	0.348													T	60312821	A	T	60312821	3	4	193	1	0	0	0	0	1	0	0	0	7337	246	9	5	931	5	HOOK1	1	60312821	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	13440849	60312821	188937800	5	13344											
PDE4B	5142	broad.mit.edu	37	chr1	66831413	66831413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgccatccatgacgttgatCatcctggagtctccaatcag	9	11	8	13	1	3	2	2	2	1	0	6	3	5	3	4	1	1	1	4	1	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:66831413C>T	uc001dcn.3	+	12	1539	c.1348C>T	c.(1348-1350)Cat>Tat	p.H450Y	PDE4B_uc009war.3_Missense_Mutation_p.H358Y|PDE4B_uc001dco.3_Missense_Mutation_p.H450Y|PDE4B_uc001dcp.3_Missense_Mutation_p.H435Y|PDE4B_uc001dcq.3_Missense_Mutation_p.H278Y|PDE4B_uc009was.3_Missense_Mutation_p.H217Y	NM_001037341	NP_002591	Q07343	PDE4B_HUMAN	Homo sapiens phosphodiesterase 4B, cAMP-specific (PDE4B), transcript variant d, mRNA.	450					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	TGACGTTGATCATCCTGGAGT	0.418													T	66831413	C	T	66831413	3	4	193	1	0	0	0	0	1	0	0	0	11716	826	29	2	1752	2	PDE4B	1	66831413	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	6518592	66831413	182419208	6	13345											
SLC44A3	126969	broad.mit.edu	37	chr1	95322914	95322914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaggttatggaaggcGgccaagtggaatataagccc	11	7	13	10	1	0	0	0	0	0	0	0	2	0	2	3	5	2	1	3	5	6	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:95322914G>A	uc001dqv.4	+	9	1203	c.1096G>A	c.(1096-1098)Ggc>Agc	p.G366S	SLC44A3_uc001dqx.4_Missense_Mutation_p.G366S|SLC44A3_uc010otq.2_Missense_Mutation_p.G298S|SLC44A3_uc010otr.2_Missense_Mutation_p.G330S|SLC44A3_uc001dqw.4_Missense_Mutation_p.G318S|SLC44A3_uc010ots.2_Missense_Mutation_p.G286S|SLC44A3_uc009wds.3_Missense_Mutation_p.G269S|SLC44A3_uc010ott.2_Missense_Mutation_p.G286S|SLC44A3_uc010otu.1_Non-coding_Transcript	NM_001114106	NP_689582	Q8N4M1	CTL3_HUMAN	Homo sapiens solute carrier family 44, member 3 (SLC44A3), transcript variant 1, mRNA.	366						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	TATGGAAGGCGGCCAAGTGGA	0.458													A	95322914	G	A	95322914	3	1	193	1	0	0	0	0	1	0	0	0	14731	1116	39	1	1134	1	SLC44A3	1	95322914	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	28491501	95322914	153927707	7	13346											
FLG2	388698	broad.mit.edu	37	chr1	152327770	152327770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatgctgtccaaagccaGaggattgtcctgagccagac	11	8	10	12	0	1	3	1	1	0	2	3	4	3	4	4	1	3	1	4	1	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:152327770G>T	uc001ezw.4	-	2	2565	c.2492C>A	c.(2491-2493)tCt>tAt	p.S831Y	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	831	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGCCAGAGGATTGTCC	0.517													T	152327770	G	T	152327770	3	4	193	1	0	0	0	0	1	0	0	0	5972	942	33	4	4687	4	FLG2	1	152327770	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	57004856	152327770	96922851	8	13347											
GORAB	92344	broad.mit.edu	37	chr1	170508571	170508571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcactctcacctccccCgttggtgatggacaaccaca	9	10	6	16	1	2	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:170508571C>T	uc001gha.2	+	1	384	c.357C>T	c.(355-357)ccC>ccT	p.P119P	GORAB_uc009wvw.2_3'UTR|GORAB_uc001ggz.4_Silent_p.P119P|GORAB_uc009wvx.2_5'UTR|GORAB_uc001ghb.2_5'UTR|GORAB_uc001ghc.2_5'UTR	NM_152281	NP_689494	Q5T7V8	GORAB_HUMAN	Homo sapiens golgin, RAB6-interacting (GORAB), transcript variant 1, mRNA.	119						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						TCACCTCCCCCGTTGGTGATG	0.468													T	170508571	C	T	170508571	2	4	193	1	0	0	0	0	0	0	0	1	6627	639	23	1		1	GORAB	1	170508571	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	18180801	170508571	78742050	9	13348											
NEK7	140609	broad.mit.edu	37	chr1	198262082	198262082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttttgcagttggtacGccttattacatgtctccaga	7	18	8	8	1	1	1	0	0	1	1	2	1	1	1	2	1	3	4	2	1	3	7			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:198262082G>A	uc001gun.4	+	7	924	c.597G>A	c.(595-597)acG>acA	p.T199T	NEK7_uc021pgx.1_Silent_p.T199T	NM_133494	NP_598001	Q8TDX7	NEK7_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 7 (NEK7), mRNA.	199	Protein kinase.					cytoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21						CAGTTGGTACGCCTTATTACA	0.323													A	198262082	G	A	198262082	2	1	193	1	0	0	0	0	0	0	0	1	10405	1074	38	1		1	NEK7	1	198262082	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	27753511	198262082	50988539	10	13349											
HNRNPU	3192	broad.mit.edu	37	chr1	245025769	245025769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcttcacttacaagtatCaagacaaaccactgtgtcat	15	10	5	11	0	3	1	3	0	0	1	3	1	3	1	1	0	3	2	1	0	5	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr1:245025769C>G	uc001iaz.1	-	2	1089	c.871G>C	c.(871-873)Gat>Cat	p.D291H	HNRNPU_uc001iay.1_5'Flank|HNRNPU_uc001iba.1_Missense_Mutation_p.D272H	NM_031844	NP_114032	Q00839	HNRPU_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A) (HNRNPU), transcript variant 1, mRNA.	291	B30.2/SPRY.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACAAGTATCAAGACAAACC	0.378													G	245025769	C	G	245025769	3	3	193	1	0	0	0	0	1	0	0	0	7328	826	29	4	1654	4	HNRNPU	1	245025769	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	46763687	245025769	4224852	11	13350											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10912727	10912727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagacatggtggtccctcGatcaaccaagtaagtgagac	12	8	10	11	1	2	2	2	1	0	2	4	4	3	2	2	2	1	1	2	2	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:10912727G>A	uc002ras.3	+	7	738	c.629G>A	c.(628-630)cGa>cAa	p.R210Q	ATP6V1C2_uc002rat.3_Missense_Mutation_p.R210Q	NM_001039362	NP_001034451	Q8NEY4	VATC2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2 (ATP6V1C2), transcript variant 1, mRNA.	210					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain		p.P209P(1)|p.R210R(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		GTGGTCCCTCGATCAACCAAG	0.507													A	10912727	G	A	10912727	3	1	193	1	0	0	0	0	1	0	0	0	1186	1058	37	1	655	1	ATP6V1C2	2	10912727	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		10912727	232286646	12	13351											
TET3	200424	broad.mit.edu	37	chr2	74328397	74328397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagtgggggctgttcccCggtgaggggcagcaggcagc	5	5	20	11	1	0	1	0	1	0	0	1	1	1	1	3	7	2	5	3	7	0	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:74328397C>T	uc002skb.4	+	8	4077	c.4077C>T	c.(4075-4077)ccC>ccT	p.P1359P		NM_144993	NP_659430	O43151	TET3_HUMAN	Homo sapiens tet methylcytosine dioxygenase 3 (TET3), mRNA.	1359							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.P1359P(2)|p.P636P(1)		NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGCTGTTCCCCGGTGAGGGGC	0.657													T	74328397	C	T	74328397	2	4	193	1	0	0	0	0	0	0	0	1	15871	639	23	1		1	TET3	2	74328397	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	63415670	74328397	168870976	13	13352											
RANBP2	5903	broad.mit.edu	37	chr2	109388156	109388156	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttgactggtgttacaGcaaaagagaagaaaaaacct	16	12	8	5	0	0	3	0	1	0	2	0	4	0	3	1	1	3	2	1	1	7	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:109388156G>A	uc002tem.4	+	21	7976	c.7850_splice	c.e21-1	p.A2617_splice		NM_006267	NP_006258	P49792	RBP2_HUMAN	Homo sapiens RAN binding protein 2 (RANBP2), mRNA.	2617					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGGTGTTACAGCAAAAGAGAA	0.348													A	109388156	G	A	109388156	5	1	193	1	0	0	0	0	0	0	1	0	13116	985	34	2	7931	2	RANBP2	2	109388156	Splice_Site	SNP	G	TCGA-27-2521-01A-01D-1494-08	35059759	109388156	133811217	14	13353											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	193	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	99724956	209113112	34086261	15	13354											
SCLY	51540	broad.mit.edu	37	chr2	239002554	239002554	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaggcccacatgagggAcgtccgcgactacctggaag	10	7	13	11	3	0	2	0	2	0	0	1	5	1	4	3	3	1	0	3	3	3	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr2:239002554A>T	uc010fyv.3	+	8	1105	c.974A>T	c.(973-975)gAc>gTc	p.D325V	SCLY_uc002vxm.4_Missense_Mutation_p.D292V|SCLY_uc010znr.2_Missense_Mutation_p.D231V|SCLY_uc010znq.2_Missense_Mutation_p.D119V	NM_016510	NP_057594	Q96I15	SCLY_HUMAN	Homo sapiens selenocysteine lyase (SCLY), mRNA.	325					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CACATGAGGGACGTCCGCGAC	0.622													T	239002554	A	T	239002554	3	4	193	1	0	0	0	0	1	0	0	0	14000	275	10	5	1008	5	SCLY	2	239002554	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	29889442	239002554	4196819	16	13355											
STAB1	23166	broad.mit.edu	37	chr3	52536060	52536060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaccccatgcaatggccacGggacctgcttggatggcatg	9	7	13	12	1	0	1	0	0	0	1	0	3	0	3	4	4	2	3	4	4	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:52536060G>A	uc003dej.3	+	3	444	c.370G>A	c.(370-372)Ggg>Agg	p.G124R	STAB1_uc003dei.1_Missense_Mutation_p.G124R	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	124	EGF-like 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CAATGGCCACGGGACCTGCTT	0.637													A	52536060	G	A	52536060	3	1	193	1	0	0	0	0	1	0	0	0	15333	1116	39	1	384	1	STAB1	3	52536060	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		52536060	145486370	17	13356											
MINA	84864	broad.mit.edu	37	chr3	97664110	97664110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtagtaagtttcaggtccTtgacagaaatagctggacta	12	12	10	7	0	1	2	1	1	0	1	2	3	2	3	1	2	1	4	1	2	5	6			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:97664110T>C	uc003drz.1	-	9	1822	c.1316A>G	c.(1315-1317)aAg>aGg	p.K439R	MINA_uc003dsa.1_Missense_Mutation_p.K438R|MINA_uc003dsb.1_Missense_Mutation_p.K439R|MINA_uc003dsc.1_Missense_Mutation_p.K438R	NM_001042533	NP_694822	Q8IUF8	MINA_HUMAN	Homo sapiens MYC induced nuclear antigen (MINA), transcript variant 1, mRNA.	439					ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						TTTCAGGTCCTTGACAGAAAT	0.383													C	97664110	T	C	97664110	3	2	193	1	0	0	0	0	1	0	0	0	9661	1609	56	3	85	3	MINA	3	97664110	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	45128050	97664110	100358320	18	13357											
EAF2	55840	broad.mit.edu	37	chr3	121554141	121554141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagagtaattatgaatagCgcagcgggattctcacacct	13	9	11	8	2	1	2	1	1	1	1	2	4	1	3	1	2	2	2	1	2	4	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:121554141C>A	uc003een.3	+	0	108	c.9C>A	c.(7-9)agC>agA	p.S3R	IQCB1_uc010hrf.1_5'Flank|IQCB1_uc010hre.1_5'Flank|IQCB1_uc003eek.2_5'Flank|EAF2_uc003eem.3_Non-coding_Transcript|EAF2_uc003eeo.3_5'UTR	NM_018456	NP_060926	Q96CJ1	EAF2_HUMAN	Homo sapiens ELL associated factor 2 (EAF2), mRNA.	3					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		TTATGAATAGCGCAGCGGGAT	0.572													A	121554141	C	A	121554141	3	1	193	1	0	0	0	0	1	0	0	0	4915	767	27	4	11	4	EAF2	3	121554141	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	23890031	121554141	76468289	19	13358											
CLSTN2	64084	broad.mit.edu	37	chr3	140281698	140281698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgctacatcacatccGctaccgcaactggcgtccgg	8	7	11	15	4	1	0	1	0	0	0	3	0	3	0	3	3	4	4	3	3	3	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:140281698G>A	uc003etn.3	+	13	2448	c.2258G>A	c.(2257-2259)cGc>cAc	p.R753H		NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	753					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CATCACATCCGCTACCGCAAC	0.552										HNSCC(16;0.037)			A	140281698	G	A	140281698	3	1	193	1	0	0	0	0	1	0	0	0	3593	1087	38	1	2312	1	CLSTN2	3	140281698	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	18727557	140281698	57740732	20	13359											
LRRIQ4	344657	broad.mit.edu	37	chr3	169555374	169555374	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaaaagataagaaaggAaagaaggatgtaaaaggaaa	23	5	10	3	0	1	3	0	0	1	3	2	6	1	6	1	3	0	1	1	3	9	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:169555374A>G	uc003fgb.3	+	4	1638	c.1638A>G	c.(1636-1638)ggA>ggG	p.G546G		NM_001080460	NP_001073929	A6NIV6	LRIQ4_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 4 (LRRIQ4), mRNA.	546								p.K545K(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						ATAAGAAAGGAAAGAAGGATG	0.363													G	169555374	A	G	169555374	2	3	193	1	0	0	0	0	0	0	0	1	9101	233	9	3		3	LRRIQ4	3	169555374	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08	29273676	169555374	28467056	21	13360											
SLC7A14	57709	broad.mit.edu	37	chr3	170219101	170219101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcagatcctgtggtcttgGggactcgaactccaaactct	9	10	11	11	1	2	1	0	0	2	1	5	3	4	2	2	4	2	1	2	4	2	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr3:170219101G>A	uc003fgz.2	-	2	654	c.338C>T	c.(337-339)cCc>cTc	p.P113L	CLDN11_uc011bpt.1_Intron|CLDN11_uc003fha.1_Intron	NM_020949	NP_066000	Q8TBB6	S7A14_HUMAN	Homo sapiens solute carrier family 7 (orphan transporter), member 14 (SLC7A14), mRNA.	113						integral to membrane	amino acid transmembrane transporter activity	p.V112V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TGTGGTCTTGGGGACTCGAAC	0.507													A	170219101	G	A	170219101	3	1	193	1	0	0	0	0	1	0	0	0	14790	1232	43	2	2001	2	SLC7A14	3	170219101	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	663727	170219101	27803329	22	13361											
CSF2	1437	broad.mit.edu	37	chr5	131409784	131409784	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctacagaatgaaacagTagaagtcatctcagaaatgt	16	12	7	6	0	3	4	2	1	2	3	4	4	3	4	0	0	2	1	0	0	6	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:131409784T>C	uc003kwf.3	+	1	202	c.170T>C	c.(169-171)gTa>gCa	p.V57A		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	57					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	AATGAAACAGTAGAAGTCATC	0.517													C	131409784	T	C	131409784	3	2	193	1	0	0	0	0	1	0	0	0	3966	1638	57	3	176	3	CSF2	5	131409784	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08		131409784	49505476	23	13362											
PDE6A	5145	broad.mit.edu	37	chr5	149323959	149323959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtacatgaacaggctcatgCggtctgcctgcaggaggaag	10	7	15	9	1	2	1	1	1	1	0	2	3	2	3	1	5	5	3	1	5	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:149323959C>T	uc003lrg.4	-	0	398	c.278G>A	c.(277-279)cGc>cAc	p.R93H	PDE6A_uc021yfs.1_Missense_Mutation_p.R93H	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	93	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CAGGCTCATGCGGTCTGCCTG	0.522													T	149323959	C	T	149323959	3	4	193	1	0	0	0	0	1	0	0	0	11721	768	27	1	2392	1	PDE6A	5	149323959	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	17914175	149323959	31591301	24	13363											
SOX30	11063	broad.mit.edu	37	chr5	157065654	157065654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagcagcactggagacGctgggctggaaaagtgtgac	11	6	15	9	1	0	3	0	2	0	1	0	5	0	4	1	3	2	4	1	3	2	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr5:157065654G>A	uc003lxb.1	-	3	1806	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	SOX30_uc003lxc.1_Intron|SOX30_uc011dds.1_Silent_p.S183S	NM_178424	NP_848511	O94993	SOX30_HUMAN	Homo sapiens SRY (sex determining region Y)-box 30 (SOX30), transcript variant 1, mRNA.	488					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CACTGGAGACGCTGGGCTGGA	0.532													A	157065654	G	A	157065654	2	1	193	1	0	0	0	0	0	0	0	1	15046	1078	38	1		1	SOX30	5	157065654	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	7741695	157065654	23849606	25	13364											
FARS2	10667	broad.mit.edu	37	chr6	5613545	5613545	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctcatagacaagtttgtAcatccaaagtaagtgaaaag	17	10	8	6	0	1	2	1	1	1	1	3	3	2	2	1	0	1	3	1	0	7	4	rs147628137		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:5613545A>T	uc010jnv.1	+	5	1545	c.1209A>T	c.(1207-1209)gtA>gtT	p.V403V	FARS2_uc003mwr.2_Silent_p.V403V	NM_006567	NP_006558	O95363	SYFM_HUMAN	Homo sapiens phenylalanyl-tRNA synthetase 2, mitochondrial (FARS2), nuclear gene encoding mitochondrial protein, mRNA.	403	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	ACAAGTTTGTACATCCAAAGT	0.393													T	5613545	A	T	5613545	2	4	193	1	0	0	0	0	0	0	0	1	5727	378	14	5		5	FARS2	6	5613545	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		5613545	165501522	26	13365											
MDC1	9656	broad.mit.edu	37	chr6	30680501	30680501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgagacttcttcctcGtcatctgtatcgctgttgat	5	16	9	11	2	3	2	1	2	2	1	6	3	4	2	1	0	1	5	1	0	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:30680501G>A	uc003nrg.4	-	4	1658	c.1218C>T	c.(1216-1218)gaC>gaT	p.D406D	MDC1_uc003nrf.4_Silent_p.D60D|MDC1_uc011dmp.1_Silent_p.D278D|MDC1_uc003nrh.1_Silent_p.D278D|MDC1_uc003nri.2_Silent_p.D406D	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	406	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTCTTCCTCGTCATCTGTAT	0.522								Other conserved DNA damage response genes					A	30680501	G	A	30680501	2	1	193	1	0	0	0	0	0	0	0	1	9478	1136	40	1		1	MDC1	6	30680501	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	25066956	30680501	140434566	27	13366											
LTA	4049	broad.mit.edu	37	chr6	31540609	31540609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctggttctgctgccTggggcccaggtgaggcagca	4	9	16	12	0	1	1	0	1	1	0	1	1	1	1	2	5	5	6	2	5	0	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:31540609T>C	uc011dnu.1	+	1	303	c.90T>C	c.(88-90)ccT>ccC	p.P30P	LTA_uc003nue.1_Silent_p.P30P|LTA_uc003nuf.3_5'Flank|LTA_uc003nuh.3_5'Flank|LTA_uc003nug.3_5'Flank|LTA_uc010jsr.3_5'Flank|TNF_uc003nui.3_5'Flank	NM_001159740	NP_001153212	P01374	TNFB_HUMAN	Homo sapiens lymphotoxin alpha (TNF superfamily, member 1) (LTA), transcript variant 1, mRNA.	30					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	TTCTGCTGCCTGGGGCCCAGG	0.632													C	31540609	T	C	31540609	2	2	193	1	0	0	0	0	0	0	0	1	9138	1567	55	3		3	LTA	6	31540609	Silent	SNP	T	TCGA-27-2521-01A-01D-1494-08	860108	31540609	139574458	28	13367											
GRM4	2914	broad.mit.edu	37	chr6	34003985	34003985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggtggtggcatagcacagGaagatgcctgccagcagcac	12	5	14	10	0	0	1	0	0	0	1	0	2	0	2	2	4	5	4	2	4	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:34003985G>A	uc003oir.4	-	7	2265	c.1902C>T	c.(1900-1902)ttC>ttT	p.F634F	GRM4_uc011dsn.2_Silent_p.F587F|GRM4_uc010jvh.3_Silent_p.F634F|GRM4_uc010jvi.3_Silent_p.F326F|GRM4_uc003oio.3_Silent_p.F326F|GRM4_uc003oip.3_Non-coding_Transcript|GRM4_uc011dsl.2_Silent_p.F494F|GRM4_uc003oiq.3_Silent_p.F501F|GRM4_uc011dsm.2_Silent_p.F465F	NM_000841	NP_000832	Q14833	GRM4_HUMAN	Homo sapiens glutamate receptor, metabotropic 4 (GRM4), mRNA.	634					activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	CATAGCACAGGAAGATGCCTG	0.592													A	34003985	G	A	34003985	2	1	193	1	0	0	0	0	0	0	0	1	6854	1165	41	2		2	GRM4	6	34003985	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	2463376	34003985	137111082	29	13368											
LAMA2	3908	broad.mit.edu	37	chr6	129663557	129663557	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatactatggaattgtcaagGgattgccaaatgactgtcag	13	11	11	6	0	2	1	2	1	0	0	2	4	2	3	1	2	2	0	1	2	5	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:129663557G>T	uc021zfb.1	+	29	4486	c.4381G>T	c.(4381-4383)Gga>Tga	p.G1461*	LAMA2_uc003qbn.3_Nonsense_Mutation_p.G1461*|LAMA2_uc003qbo.3_Nonsense_Mutation_p.G1461*	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	1461	Laminin EGF-like 15.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.K1460K(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		AATTGTCAAGGGATTGCCAAA	0.403													T	129663557	G	T	129663557	4	4	193	1	0	0	0	0	0	1	0	0	8665	1233	43	4	4499	4	LAMA2	6	129663557	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	95659572	129663557	41451510	30	13369											
HIVEP2	3097	broad.mit.edu	37	chr6	143093267	143093267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgataggactgctgcTgcacctgctgagatggagag	8	10	16	7	0	0	3	0	2	0	2	0	6	0	4	1	2	4	4	1	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:143093267T>C	uc003qjd.3	-	4	3352	c.2609A>G	c.(2608-2610)cAg>cGg	p.Q870R		NM_006734	NP_006725	P31629	ZEP2_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 2 (HIVEP2), mRNA.	870					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GGACTGCTGCTGCACCTGCTG	0.557													C	143093267	T	C	143093267	3	2	193	1	0	0	0	0	1	0	0	0	7242	1580	55	3	4755	3	HIVEP2	6	143093267	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	13429710	143093267	28021800	31	13370											
ARID1B	57492	broad.mit.edu	37	chr6	157488293	157488293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgccctacagcatggCgcccgccatggtgaacagct	7	5	13	16	4	0	1	0	1	0	0	0	1	0	1	4	3	4	2	4	3	2	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr6:157488293C>T	uc003qqp.3	+	8	2960	c.2960C>T	c.(2959-2961)gCg>gTg	p.A987V	ARID1B_uc003qqo.3_Missense_Mutation_p.A1000V|ARID1B_uc003qqn.3_Missense_Mutation_p.A987V	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	987					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TACAGCATGGCGCCCGCCATG	0.597													T	157488293	C	T	157488293	3	4	193	1	0	0	0	0	1	0	0	0	917	768	27	1	3037	1	ARID1B	6	157488293	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	14395026	157488293	13626774	32	13371											
ITGB8	3696	broad.mit.edu	37	chr7	20420296	20420296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccacacagtgactacAatttagactgcatgcctccc	10	12	5	14	0	0	2	0	1	0	1	2	2	2	2	3	0	3	1	3	0	3	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:20420296A>G	uc003suu.3	+	4	1348	c.643A>G	c.(643-645)Aat>Gat	p.N215D	ITGB8_uc011jyh.2_Missense_Mutation_p.N80D|ITGB8_uc003sut.3_Missense_Mutation_p.N215D	NM_002214	NP_002205	P26012	ITB8_HUMAN	Homo sapiens integrin, beta 8 (ITGB8), mRNA.	215	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CAGTGACTACAATTTAGACTG	0.388													G	20420296	A	G	20420296	3	3	193	1	0	0	0	0	1	0	0	0	7959	130	5	3	661	3	ITGB8	7	20420296	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08		20420296	138718367	33	13372											
MTERF	7978	broad.mit.edu	37	chr7	91503603	91503603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttaggttgttattggaccGaaaaaaggattcaggagaac	14	11	12	4	1	1	1	1	0	0	1	1	5	1	3	1	4	1	3	1	4	6	6	rs148973867		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr7:91503603G>A	uc003ulc.1	-	2	581	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	MTERF_uc010let.1_Intron|MTERF_uc011khm.1_Missense_Mutation_p.R149W|MTERF_uc010leu.1_Missense_Mutation_p.R149W	NM_006980	NP_008911	Q99551	MTERF_HUMAN	Homo sapiens mitochondrial transcription termination factor (MTERF), nuclear gene encoding mitochondrial protein, mRNA.	169	Interaction with DNA.				DNA geometric change|regulation of transcription, DNA-dependent|termination of mitochondrial transcription	mitochondrial nucleoid	double-stranded DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|skin(1)	14	all_cancers(62;2.28e-09)|all_epithelial(64;1.07e-07)|Breast(17;0.00371)|all_hematologic(106;0.091)|all_lung(186;0.178)|Lung NSC(181;0.235)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.0993)|Kidney(17;0.118)|Epithelial(20;0.136)|LUSC - Lung squamous cell carcinoma(200;0.176)			TTATTGGACCGAAAAAAGGAT	0.398													A	91503603	G	A	91503603	3	1	193	1	0	0	0	0	1	0	0	0	9994	1057	37	1	698	1	MTERF	7	91503603	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	71083307	91503603	67635060	34	13373											
STAR	6770	broad.mit.edu	37	chr8	38005844	38005844	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtctcttctagccgagaAcctggatacacagccgagga	12	7	11	11	2	2	2	0	0	2	2	3	6	2	4	3	2	4	0	3	2	3	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:38005844A>G	uc003xkv.1	-	3	443	c.179_splice	c.e3-1	p.G60_splice		NM_000349	NP_000340	P49675	STAR_HUMAN	Homo sapiens steroidogenic acute regulatory protein (STAR), nuclear gene encoding mitochondrial protein, mRNA.	60					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		CTAGCCGAGAACCTGGATACA	0.577													G	38005844	A	G	38005844	2	3	193	1	0	0	0	0	0	0	0	1	15350	57	2	3		3	STAR	8	38005844	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		38005844	108358178	35	13374											
GDF6	392255	broad.mit.edu	37	chr8	97157751	97157751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagtgtgcgagagatcGtctgcgagataaaaaataat	16	8	13	4	3	1	3	0	0	1	3	2	7	1	4	0	1	2	0	0	1	4	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr8:97157751G>C	uc003yhp.3	-	2	507	c.407_splice	c.e2-1	p.D136_splice		NM_001001557	NP_001001557	Q6KF10	GDF6_HUMAN	Homo sapiens growth differentiation factor 6 (GDF6), mRNA.	136					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GCGAGAGATCGTCTGCGAGAT	0.557													C	97157751	G	C	97157751	3	2	193	1	0	0	0	0	1	0	0	0	6373	1159	40	4	963	4	GDF6	8	97157751	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	59151907	97157751	49206271	36	13375											
IFNW1	3467	broad.mit.edu	37	chr9	21141019	21141019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctatctttacttctcagtCtttcttgcatgtttgttgat	5	22	5	9	0	5	1	1	1	5	0	6	1	5	1	0	0	2	3	0	0	2	8			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141019C>G	uc003zol.1	-	0	1126	c.551G>C	c.(550-552)aGa>aCa	p.R184T		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	184					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ACTTCTCAGTCTTTCTTGCAT	0.383													G	21141019	C	G	21141019	3	3	193	1	0	0	0	0	1	0	0	0	7610	913	32	4	40	4	IFNW1	9	21141019	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		21141019	120072412	37	13376											
IFNW1	3467	broad.mit.edu	37	chr9	21141108	21141108	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgctgtatttcttctctttCaggtagacacggattccctg	6	16	8	11	2	3	1	1	0	2	1	6	2	4	2	1	2	0	3	1	2	2	6			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:21141108C>G	uc003zol.1	-	0	1037	c.462G>C	c.(460-462)ctG>ctC	p.L154L		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	154					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TCTTCTCTTTCAGGTAGACAC	0.473													G	21141108	C	G	21141108	2	3	193	1	0	0	0	0	0	0	0	1	7610	813	29	4		4	IFNW1	9	21141108	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	89	21141108	120072323	38	13377											
TMEM2	23670	broad.mit.edu	37	chr9	74324239	74324239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttacacagcttggatggCggatcaggtagttgtccatt	9	13	11	8	1	1	0	1	0	0	0	2	2	2	2	1	4	2	3	1	4	2	6	rs147272925	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:74324239C>T	uc011lsa.1	-	16	3461	c.2921G>A	c.(2920-2922)cGc>cAc	p.R974H	TMEM2_uc010mos.2_Missense_Mutation_p.R911H|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	974						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCTTGGATGGCGGATCAGGTA	0.448													T	74324239	C	T	74324239	3	4	193	1	0	0	0	0	1	0	0	0	16221	768	27	1	1262	1	TMEM2	9	74324239	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	53183131	74324239	66889192	39	13378											
ZNF618	114991	broad.mit.edu	37	chr9	116811982	116811982	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttcaaggtgcacccGgcccacaaggtggccatgat	11	6	12	12	1	1	2	1	1	0	1	1	3	1	2	3	4	2	1	3	4	3	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:116811982G>T	uc004bid.3	+	14	2499	c.2400G>T	c.(2398-2400)ccG>ccT	p.P800P	ZNF618_uc004bic.3_Silent_p.P707P|ZNF618_uc011lxi.2_Silent_p.P767P|ZNF618_uc011lxj.2_Silent_p.P768P|ZNF618_uc010mvb.3_Silent_p.P390P	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	800					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGCACCCGGCCCACAAGG	0.612													T	116811982	G	T	116811982	2	4	193	1	0	0	0	0	0	0	0	1	18143	1103	39	4		4	ZNF618	9	116811982	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	42487743	116811982	24401449	40	13379											
DEC1	50514	broad.mit.edu	37	chr9	118162691	118162691	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcacctggtgagggccttCttgccgtgttacacatgatg	7	11	12	11	1	1	2	0	2	1	0	1	2	1	2	3	2	3	2	3	2	1	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:118162691C>G	uc004bjk.1	+	5	586	c.67C>G	c.(67-69)Ctt>Gtt	p.L23V	DEC1_uc004bjl.1_Intron	NM_017418	NP_059114	Q9P2X7	DEC1_HUMAN	Homo sapiens deleted in esophageal cancer 1 (DEC1), mRNA.	23					negative regulation of cell proliferation					kidney(1)|large_intestine(1)|ovary(1)	3						tgagggccttcttgccgtgtt	0.453													G	118162691	C	G	118162691	3	3	193	1	0	0	0	0	1	0	0	0	4415	913	32	4	73	4	DEC1	9	118162691	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	1350709	118162691	23050740	41	13380											
ASTN2	23245	broad.mit.edu	37	chr9	119204775	119204775	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtggacaggccgtcctcagGgtcaccgtgcttagctctga	7	9	13	12	2	3	1	2	1	1	0	4	2	4	2	3	3	2	2	3	3	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:119204775G>T	uc004bjt.2	-	19	3503	c.3402C>A	c.(3400-3402)acC>acA	p.T1134T	ASTN2_uc022bml.1_Silent_p.T830T|ASTN2_uc022bmm.1_Silent_p.T834T|ASTN2_uc004bjp.2_Silent_p.T286T|ASTN2_uc011lxr.2_Silent_p.T237T|ASTN2_uc011lxs.2_Silent_p.T237T|ASTN2_uc011lxt.2_Silent_p.T237T|ASTN2_uc004bjq.2_Silent_p.T237T	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	1185	Fibronectin type-III.					integral to membrane		p.T1134I(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CCGTCCTCAGGGTCACCGTGC	0.512													T	119204775	G	T	119204775	2	4	193	1	0	0	0	0	0	0	0	1	1070	1219	43	4		4	ASTN2	9	119204775	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	1042084	119204775	22008656	42	13381											
GLT6D1	360203	broad.mit.edu	37	chr9	138517954	138517954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccacagtgatattcCgccttctgtaatgtttttcc	7	14	7	13	1	1	1	0	1	1	0	3	1	3	1	5	1	0	2	5	1	2	6			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr9:138517954C>T	uc010nbd.1	-	3	472	c.218G>A	c.(217-219)cGg>cAg	p.R73Q		NM_182974	NP_892019	Q7Z4J2	GL6D1_HUMAN	Homo sapiens glycosyltransferase 6 domain containing 1 (GLT6D1), mRNA.	73					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		AGTGATATTCCGCCTTCTGTA	0.498													T	138517954	C	T	138517954	3	4	193	1	0	0	0	0	1	0	0	0	6524	652	23	1	620	1	GLT6D1	9	138517954	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	19313179	138517954	2695477	43	13382											
MYO3A	53904	broad.mit.edu	37	chr10	26414537	26414537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatgactcatcaccaaGgtaaaaatttttacagaaac	18	9	6	8	0	2	2	2	1	0	1	2	3	2	2	1	1	3	2	1	1	7	4	rs141374777		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:26414537G>T	uc001isn.2	+	19	2474	c.2114_splice	c.e19+1	p.S705_splice	MYO3A_uc009xko.1_Splice_Site_p.S705_splice|MYO3A_uc009xkp.1_Splice_Site|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	705	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCATCACCAAGGTAAAAATTT	0.338													T	26414537	G	T	26414537	3	4	193	1	0	0	0	0	1	0	0	0	10152	1014	35	4	2180	4	MYO3A	10	26414537	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		26414537	109120210	44	13383											
MPP7	143098	broad.mit.edu	37	chr10	28378639	28378639	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttttcattagtttgtcGccgatacggtgtcacttctt	6	19	8	8	3	3	0	2	0	1	0	4	1	3	0	1	1	1	2	1	1	3	8			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:28378639G>A	uc001iua.1	-	13	1488	c.1084C>T	c.(1084-1086)Cga>Tga	p.R362*	MPP7_uc009xkz.1_Non-coding_Transcript|MPP7_uc001iub.1_Nonsense_Mutation_p.R362*|MPP7_uc009xla.2_Nonsense_Mutation_p.R362*|MPP7_uc010qdv.1_Non-coding_Transcript	NM_173496	NP_775767	Q5T2T1	MPP7_HUMAN	Homo sapiens membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7) (MPP7), mRNA.	362					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R361Q(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TTAGTTTGTCGCCGATACGGT	0.383													A	28378639	G	A	28378639	4	1	193	1	0	0	0	0	0	1	0	0	9815	1095	38	1	670	1	MPP7	10	28378639	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	1964102	28378639	107156108	45	13384											
RUFY2	55680	broad.mit.edu	37	chr10	70139220	70139220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgcagtaattttattgGttttttcttctagtcgggca	6	19	10	6	1	2	0	0	0	2	0	3	0	2	0	0	3	1	5	0	3	3	9			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:70139220G>T	uc001job.3	-	11	1598	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	RUFY2_uc001jnz.1_Non-coding_Transcript|RUFY2_uc001joa.3_5'Flank|RUFY2_uc001joc.3_Missense_Mutation_p.T355N|RUFY2_uc010qiw.2_Missense_Mutation_p.T331N|RUFY2_uc001jod.1_Missense_Mutation_p.T389N	NM_017987	NP_060457	Q8WXA3	RUFY2_HUMAN	Homo sapiens RUN and FYVE domain containing 2 (RUFY2), transcript variant 1, mRNA.	438						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						AATTTTATTGGTTTTTTCTTC	0.338													T	70139220	G	T	70139220	3	4	193	1	0	0	0	0	1	0	0	0	13830	1261	44	4	795	4	RUFY2	10	70139220	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	41760581	70139220	65395527	46	13385											
ZMIZ1	57178	broad.mit.edu	37	chr10	81058831	81058831	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatgacgagctgcggcTcacattccctgtgcgggatg	8	8	12	13	3	1	1	1	1	0	0	2	3	2	2	2	2	3	2	2	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr10:81058831T>G	uc001kaf.2	+	15	2263	c.1691T>G	c.(1690-1692)cTc>cGc	p.L564R	ZMIZ1_uc001kag.2_Missense_Mutation_p.L440R	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	564					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			GAGCTGCGGCTCACATTCCCT	0.647													G	81058831	T	G	81058831	3	3	193	1	0	0	0	0	1	0	0	0	17797	1551	54	5	1737	5	ZMIZ1	10	81058831	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	10919611	81058831	54475916	47	13386											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45923593	45923593	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcgggtgtctcgatcAtcctcacccctgaagacagg	9	8	11	13	2	3	2	2	1	1	1	6	4	4	3	3	3	0	0	3	3	1	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:45923593A>T	uc001nbr.3	+	3	910	c.585A>T	c.(583-585)tcA>tcT	p.S195S		NM_005456	NP_005447	Q9UQF2	JIP1_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 1 (MAPK8IP1), mRNA.	195	JNK-binding domain (JBD).				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity	p.R194R(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGTCTCGATCATCCTCACCCC	0.527													T	45923593	A	T	45923593	2	4	193	1	0	0	0	0	0	0	0	1	9359	204	8	5		5	MAPK8IP1	11	45923593	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		45923593	89082923	48	13387											
DLAT	1737	broad.mit.edu	37	chr11	111899615	111899615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgctgccactgcttcGccacctacaccttctgctca	6	10	5	20	1	2	0	1	0	1	0	3	0	2	0	6	0	5	3	6	0	1	3	rs148153443		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:111899615G>A	uc001pmo.3	+	3	1265	c.606G>A	c.(604-606)tcG>tcA	p.S202S	DLAT_uc010rwr.2_Intron|DLAT_uc021qqn.1_Silent_p.S146S	NM_001931	NP_001922	P10515	ODP2_HUMAN	Homo sapiens dihydrolipoamide S-acetyltransferase (DLAT), nuclear gene encoding mitochondrial protein, mRNA.	202					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial pyruvate dehydrogenase complex	dihydrolipoyllysine-residue acetyltransferase activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(1)|skin(1)	22		all_cancers(61;4.53e-11)|all_epithelial(67;2.76e-06)|Melanoma(852;9.42e-06)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0512)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)		Epithelial(105;4.87e-07)|BRCA - Breast invasive adenocarcinoma(274;6.83e-07)|all cancers(92;9.63e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0557)	NADH(DB00157)	CCACTGCTTCGCCACCTACAC	0.532													A	111899615	G	A	111899615	2	1	193	1	0	0	0	0	0	0	0	1	4588	1074	38	1		1	DLAT	11	111899615	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	65976022	111899615	23106901	49	13388											
HTR3A	3359	broad.mit.edu	37	chr11	113857602	113857602	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagtttggccgagaccatCttcattgtgcggctggtgca	8	12	12	9	2	2	1	1	0	1	1	2	2	2	1	2	3	2	3	2	3	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857602C>A	uc010rxb.2	+	6	1319	c.1086C>A	c.(1084-1086)atC>atA	p.I362I	HTR3A_uc010rxa.2_Silent_p.I330I|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.I309I	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	324					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CCGAGACCATCTTCATTGTGC	0.582													A	113857602	C	A	113857602	2	1	193	1	0	0	0	0	0	0	0	1	7502	903	32	4		4	HTR3A	11	113857602	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	1957987	113857602	21148914	50	13389			1	34		2	2	13	N	G_C	3.217342e-05
HTR3A	3359	broad.mit.edu	37	chr11	113857614	113857614	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaccatcttcattgtgcgGctggtgcacaagcaagacct	10	9	11	11	1	2	2	1	0	1	2	2	3	2	2	2	2	3	3	2	2	2	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:113857614G>C	uc010rxb.2	+	6	1331	c.1098G>C	c.(1096-1098)cgG>cgC	p.R366R	HTR3A_uc010rxa.2_Silent_p.R334R|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.R313R	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	328					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TCATTGTGCGGCTGGTGCACA	0.572													C	113857614	G	C	113857614	2	2	193	1	0	0	0	0	0	0	0	1	7502	1190	42	4		4	HTR3A	11	113857614	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08	12	113857614	21148902	51	13390			1	34		2	2	13	N	G_C	3.217342e-05
APOA5	116519	broad.mit.edu	37	chr11	116661604	116661604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccaccagctcgtgcGcctctgccatgtagggctgg	5	8	12	16	2	1	0	0	0	1	0	3	0	2	0	5	2	4	3	5	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr11:116661604G>A	uc009yzg.3	-	1	851	c.419C>T	c.(418-420)gCg>gTg	p.A140V	ZNF259_uc001ppp.3_5'Flank|APOA5_uc001ppr.3_Missense_Mutation_p.A114V|APOA5_uc009yzf.3_Missense_Mutation_p.A114V			Q6Q788	APOA5_HUMAN	Homo sapiens apolipoprotein A-V (APOA5), transcript variant 2, mRNA.	114					acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CAGCTCGTGCGCCTCTGCCAT	0.662													A	116661604	G	A	116661604	3	1	193	1	0	0	0	0	1	0	0	0	787	1087	38	1	763	1	APOA5	11	116661604	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	2803990	116661604	18344912	52	13391											
GRIP1	23426	broad.mit.edu	37	chr12	66786170	66786170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcaccgtggaggggtaCatgtcggagagcttgcctgg	6	8	18	9	2	0	1	0	0	0	1	1	3	0	2	2	6	3	3	2	6	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:66786170C>T	uc001stk.3	-	17	2467	c.2226G>A	c.(2224-2226)atG>atA	p.M742I	GRIP1_uc010sta.1_Missense_Mutation_p.M686I|GRIP1_uc001stj.3_Missense_Mutation_p.M524I|GRIP1_uc001stm.3_Missense_Mutation_p.M742I|GRIP1_uc001stl.1_Missense_Mutation_p.M634I	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	794	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TGGAGGGGTACATGTCGGAGA	0.537													T	66786170	C	T	66786170	3	4	193	1	0	0	0	0	1	0	0	0	6842	478	17	2	1032	2	GRIP1	12	66786170	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		66786170	67065725	53	13392											
GOLGA3	2802	broad.mit.edu	37	chr12	133381337	133381337	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgctcctctgcatgTcctctaccttggccataagc	7	12	8	14	0	2	1	0	1	2	0	4	1	4	1	4	1	5	3	4	1	2	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr12:133381337T>A	uc001ukz.1	-	6	2121	c.1562A>T	c.(1561-1563)gAc>gTc	p.D521V	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.D521V|GOLGA3_uc001ulb.3_Missense_Mutation_p.D521V	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	521					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CCTCTGCATGTCCTCTACCTT	0.607													A	133381337	T	A	133381337	3	1	193	1	0	0	0	0	1	0	0	0	6610	1667	58	5	3144	5	GOLGA3	12	133381337	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	66595167	133381337	470558	54	13393											
BRCA2	675	broad.mit.edu	37	chr13	32914389	32914389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagtatagggaagcttcAtaagtcagtctcatctgcaa	13	12	9	7	0	4	0	3	0	2	0	5	1	4	1	0	1	2	4	0	1	6	5	rs80358823		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:32914389A>G	uc001uub.1	+	10	6124	c.5897A>G	c.(5896-5898)cAt>cGt	p.H1966R		NM_000059	NP_000050	P51587	BRCA2_HUMAN	Homo sapiens breast cancer 2, early onset (BRCA2), mRNA.	1966					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGGAAGCTTCATAAGTCAGTC	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G	32914389	A	G	32914389	3	3	193	1	0	0	0	0	1	0	0	0	1508	217	8	3	5935	3	BRCA2	13	32914389	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08		32914389	82255489	55	13394											
SLITRK6	84189	broad.mit.edu	37	chr13	86370282	86370282	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaatttctaaagaattgTgattgatatgaagttgtttc	14	17	8	2	0	1	5	0	3	1	2	2	5	1	5	0	0	0	2	0	0	7	8			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr13:86370282T>G	uc001vll.1	-	1	821	c.362A>C	c.(361-363)cAc>cCc	p.H121P	SLITRK6_uc021rla.1_Missense_Mutation_p.H121P	NM_032229	NP_115605	Q9H5Y7	SLIK6_HUMAN	Homo sapiens SLIT and NTRK-like family, member 6 (SLITRK6), mRNA.	121						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TAAAGAATTGTGATTGATATG	0.353													G	86370282	T	G	86370282	3	3	193	1	0	0	0	0	1	0	0	0	14841	1696	59	5	2167	5	SLITRK6	13	86370282	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	53455893	86370282	28799596	56	13395											
SALL2	6297	broad.mit.edu	37	chr14	21991030	21991030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaagccctgcctgcaGaaaacacaagtgaagagcgg	16	4	11	10	1	1	4	1	1	0	3	1	4	1	4	2	1	5	1	2	1	6	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:21991030G>T	uc001wbe.3	-	1	3114	c.2832C>A	c.(2830-2832)ttC>ttA	p.F944L	SALL2_uc010tly.2_Missense_Mutation_p.F942L|SALL2_uc010tlz.1_Missense_Mutation_p.F807L|SALL2_uc001wbf.3_Intron|SALL2_uc010tma.1_Missense_Mutation_p.F809L|SALL2_uc001wbg.1_Intron	NM_005407	NP_005398	Q9Y467	SALL2_HUMAN	Homo sapiens sal-like 2 (Drosophila) (SALL2), mRNA.	944							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CCTGCCTGCAGAAAACACAAG	0.597													T	21991030	G	T	21991030	3	4	193	1	0	0	0	0	1	0	0	0	13902	933	33	4	195	4	SALL2	14	21991030	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		21991030	85358510	57	13396											
ACIN1	22985	broad.mit.edu	37	chr14	23531439	23531439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggggccatttgacccCgtgcagagctgtgcgggtgg	5	8	18	10	2	0	2	0	1	0	1	0	3	0	3	3	5	3	2	3	5	0	1	rs138390500	byFrequency	TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr14:23531439C>T	uc001wit.4	-	15	3539	c.3211G>A	c.(3211-3213)Ggg>Agg	p.G1071R	ACIN1_uc001wio.4_Non-coding_Transcript|ACIN1_uc001wip.4_Missense_Mutation_p.G313R|ACIN1_uc001wiq.4_Missense_Mutation_p.G313R|ACIN1_uc001wir.4_Missense_Mutation_p.G344R|ACIN1_uc001wis.4_Missense_Mutation_p.G752R|ACIN1_uc010akg.3_Missense_Mutation_p.G1058R|ACIN1_uc010tnj.2_Missense_Mutation_p.G1031R	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.	1071					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	p.G1071W(2)|p.G344W(1)		breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CATTTGACCCCGTGCAGAGCT	0.552													T	23531439	C	T	23531439	3	4	193	1	0	0	0	0	1	0	0	0	142	652	23	1	830	1	ACIN1	14	23531439	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	1540409	23531439	83818101	58	13397											
SECISBP2L	9728	broad.mit.edu	37	chr15	49325161	49325161	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtaagaacccttgccttaCcagtttgctgtgaagcatct	10	13	8	10	0	1	2	0	1	1	1	1	2	1	2	3	0	5	4	3	0	4	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325161C>G	uc001zxe.2	-	4	928	c.664_splice	c.e4+1	p.D222_splice	SECISBP2L_uc001zxd.2_Splice_Site_p.D222_splice|SECISBP2L_uc010bep.2_Splice_Site|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	222										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CCTTGCCTTACCAGTTTGCTG	0.393													G	49325161	C	G	49325161	5	3	193	1	0	0	0	0	0	0	1	0	14100	521	18	4	2561	4	SECISBP2L	15	49325161	Splice_Site	SNP	C	TCGA-27-2521-01A-01D-1494-08		49325161	53206231	59	13398			2	35		2	2	20	C		5.094077e-05
SECISBP2L	9728	broad.mit.edu	37	chr15	49325180	49325180	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagtttgctgtgaagcatCtaccagaagcacaatttttg	12	12	8	9	0	1	2	0	1	1	1	1	2	1	2	2	0	4	4	2	0	4	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:49325180C>G	uc001zxe.2	-	3	910	c.646G>C	c.(646-648)Gat>Cat	p.D216H	SECISBP2L_uc001zxd.2_Missense_Mutation_p.D216H|SECISBP2L_uc010bep.2_5'UTR|SECISBP2L_uc010beq.2_Intron	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	216										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TGTGAAGCATCTACCAGAAGC	0.398													G	49325180	C	G	49325180	3	3	193	1	0	0	0	0	1	0	0	0	14100	913	32	4	2580	4	SECISBP2L	15	49325180	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	19	49325180	53206212	60	13399			2	35		2	2	20	C		5.094077e-05
FBXO22	26263	broad.mit.edu	37	chr15	76225151	76225151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctgaggctgcgatgcAgcgcctcaaagcggccaaca	10	5	13	13	3	1	1	1	1	0	0	1	3	1	1	2	2	6	3	2	2	2	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr15:76225151A>G	uc002bbk.3	+	6	1025	c.920A>G	c.(919-921)cAg>cGg	p.Q307R	FBXO22_uc002bbl.3_Missense_Mutation_p.Q203R|FBXO22-AS1_uc002bbm.1_Non-coding_Transcript	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	307					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GCTGCGATGCAGCGCCTCAAA	0.527													G	76225151	A	G	76225151	3	3	193	1	0	0	0	0	1	0	0	0	5783	188	7	3	983	3	FBXO22	15	76225151	Missense_Mutation	SNP	A	TCGA-27-2521-01A-01D-1494-08	26899971	76225151	26306241	61	13400											
TSC2	7249	broad.mit.edu	37	chr16	2138318	2138318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccacatcaagcggctcCgccagcgggtagggaatatg	9	6	13	13	4	1	0	1	0	0	0	3	1	3	1	4	3	2	2	4	3	4	2	rs137854397		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:2138318C>T	uc002con.3	+	40	5357	c.5251C>T	c.(5251-5253)Cgc>Tgc	p.R1751C	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.R1728C|TSC2_uc002coo.3_Missense_Mutation_p.R1684C|TSC2_uc010uvv.2_Missense_Mutation_p.R1648C|TSC2_uc010uvw.2_Missense_Mutation_p.R1636C|TSC2_uc002cop.3_Missense_Mutation_p.R1507C|TSC2_uc002coq.3_Missense_Mutation_p.R526C	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1751	Rap-GAP.		Missing (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CAAGCGGCTCCGCCAGCGGGT	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				T	2138318	C	T	2138318	3	4	193	1	0	0	0	0	1	0	0	0	16707	652	23	1	5409	1	TSC2	16	2138318	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		2138318	88216435	62	13401											
RRAD	6236	broad.mit.edu	37	chr16	66957423	66957424	+	Missense_Mutation	DNP	CA	CA	AC																															cctgccgcctactcaccatcCaccgagacctcacgagagcg																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr16:66957423_66957424CA>AC	uc002eqn.2	-	3	796_797	c.644_645TG>GT	c.(643-645)gtg>gGT	p.V215G	RRAD_uc002eqo.2_Missense_Mutation_p.V215G	NM_001128850	NP_004156	P55042	RAD_HUMAN	Homo sapiens Ras-related associated with diabetes (RRAD), transcript variant 1, mRNA.	215					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ACTCACCATCCACCGAGACCTC	0.634													AC	66957424	CA	AC	66957423	3	1	193	1	0	0	0	0	1	0	0	0	13762	581	21	4	289	4	RRAD	16	66957423	Missense_Mutation	DNP	CA	TCGA-27-2521-01A-01D-1494-08	64819105	66957423	23397330	63	13402											
ACADVL	37	broad.mit.edu	37	chr17	7125285	7125285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaggggagactgtggccGctttctgtctaaccgagccc	8	8	12	13	2	2	1	0	0	2	1	2	3	2	1	3	3	3	1	3	3	2	2	rs140629318		TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7125285G>A	uc002gev.3	+	7	788	c.637G>A	c.(637-639)Gct>Act	p.A213T	DLG4_uc002get.4_5'Flank|DLG4_uc010vto.2_5'Flank|ACADVL_uc010vtp.2_Missense_Mutation_p.A223T|ACADVL_uc010vtq.1_Missense_Mutation_p.A259T|ACADVL_uc002gew.3_Missense_Mutation_p.A191T|ACADVL_uc002gex.3_Missense_Mutation_p.A137T	NM_000018	NP_000009	P49748	ACADV_HUMAN	Homo sapiens acyl-CoA dehydrogenase, very long chain (ACADVL), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	213	Catalytic.		A -> P (in ACADVLD).		energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GACTGTGGCCGCTTTCTGTCT	0.572													A	7125285	G	A	7125285	3	1	193	1	0	0	0	0	1	0	0	0	116	1087	38	1	667	1	ACADVL	17	7125285	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08		7125285	74069925	64	13403											
TP53	7157	broad.mit.edu	37	chr17	7577149	7577149	+	Frame_Shift_Del	DEL	A	A	-																															aagctgttccgtcccagtagAttaccactactcaggatagg																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:7577149delA	uc002gim.2	-	7	983	c.789delT	c.(787-789)aatfs	p.N263fs	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Frame_Shift_Del_p.N263fs|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Frame_Shift_Del_p.N131fs|TP53_uc010cnf.1_Frame_Shift_Del_p.N131fs|TP53_uc002gii.1_Frame_Shift_Del_p.N131fs|TP53_uc010cni.1_Frame_Shift_Del_p.N263fs|TP53_uc010cnh.1_Frame_Shift_Del_p.N263fs|TP53_uc002gij.2_Frame_Shift_Del_p.N263fs|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	263	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (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.G262V(15)|p.0?(8)|p.G262fs*83(5)|p.G262_F270delGNLLGRNSF(4)|p.G262D(4)|p.G262_S269delGNLLGRNS(4)|p.?(3)|p.N263fs*82(3)|p.N263D(2)|p.N263K(2)|p.N263H(2)|p.N263I(2)|p.G262del(2)|p.G262S(2)|p.S261_L264>R(2)|p.N263fs*5(2)|p.G262fs*2(2)|p.G262H(1)|p.G262G(1)|p.E258fs*71(1)|p.S261_G262insX(1)|p.N263fs*84(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)		GTCCCAGTAGATTACCACTAC	0.517		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)			-	7577149	A	-	7577149	7	5	193	1	0	1	0	1	0	0	0	0	16482	330	12	0	497	0	TP53	17	7577149	Frame_Shift_Del	DEL	A	TCGA-27-2521-01A-01D-1494-08	451864	7577149	73618061	65	13404											
SLC13A2	9058	broad.mit.edu	37	chr17	26823547	26823547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccttcatgttgcctgTggccaccccgcccaatgcca	5	9	9	18	1	1	0	1	0	0	0	1	0	1	0	8	2	2	1	8	2	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:26823547T>C	uc010wan.2	+	10	1764	c.1697T>C	c.(1696-1698)gTg>gCg	p.V566A	SLC13A2_uc010wam.2_Missense_Mutation_p.V473A|SLC13A2_uc002hbh.3_Missense_Mutation_p.V517A|SLC13A2_uc010wao.2_Missense_Mutation_p.V474A|SLC13A2_uc002hbi.3_Missense_Mutation_p.V446A	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	517						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	ATGTTGCCTGTGGCCACCCCG	0.617													C	26823547	T	C	26823547	3	2	193	1	0	0	0	0	1	0	0	0	14486	1696	59	3	1739	3	SLC13A2	17	26823547	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	19246398	26823547	54371663	66	13405											
MYO18A	399687	broad.mit.edu	37	chr17	27424842	27424842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttccccgttgatctccgCtgcccggatgagacgggcct	5	9	11	16	4	1	2	0	2	1	1	3	4	2	3	5	2	1	2	5	2	0	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:27424842C>T	uc002hdt.1	-	25	4224	c.4066G>A	c.(4066-4068)Gcg>Acg	p.A1356T	MYO18A_uc010wbc.1_Missense_Mutation_p.A898T|MYO18A_uc002hds.2_Missense_Mutation_p.A898T|MYO18A_uc010csa.1_Missense_Mutation_p.A1356T|MYO18A_uc002hdu.1_Missense_Mutation_p.A1356T|MYO18A_uc010wbd.1_Missense_Mutation_p.A1025T	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1356					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			TTGATCTCCGCTGCCCGGATG	0.602													T	27424842	C	T	27424842	3	4	193	1	0	0	0	0	1	0	0	0	10141	797	28	2	2166	2	MYO18A	17	27424842	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	601295	27424842	53770368	67	13406											
SUZ12	23512	broad.mit.edu	37	chr17	30320320	30320320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaaggatactccaaatGaaaaccgacaaaaattaaga	24	5	6	6	1	0	3	0	1	0	2	1	5	1	4	2	1	2	0	2	1	10	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:30320320G>A	uc002hgs.2	+	10	1483	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	SUZ12_uc002hgt.2_Missense_Mutation_p.E398K	NM_015355	NP_056170	Q15022	SUZ12_HUMAN	Homo sapiens suppressor of zeste 12 homolog (Drosophila) (SUZ12), mRNA.	421					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding		SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				TACTCCAAATGAAAACCGACA	0.264			T	JAZF1	endometrial stromal tumours								A	30320320	G	A	30320320	3	1	193	1	0	0	0	0	1	0	0	0	15512	1291	45	2	1303	2	SUZ12	17	30320320	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	2895478	30320320	50874890	68	13407											
GNGT2	2793	broad.mit.edu	37	chr17	47284162	47284162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgaagggattcttgTcctcagggatgcctttgaga	7	14	11	9	0	3	2	1	2	2	1	5	5	4	4	3	2	1	0	3	2	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:47284162T>C	uc002ioo.2	-	3	474	c.167A>G	c.(166-168)gAc>gGc	p.D56G	GNGT2_uc021tzo.1_Missense_Mutation_p.D56G|GNGT2_uc021tzp.1_Missense_Mutation_p.D56G|GNGT2_uc021tzq.1_Missense_Mutation_p.D56G	NM_031498	NP_113686	O14610	GBGT2_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), gamma transducing activity polypeptide 2 (GNGT2), transcript variant 1, mRNA.	56					G-protein coupled receptor protein signaling pathway|phototransduction|synaptic transmission	extracellular region|heterotrimeric G-protein complex	GTPase activity|signal transducer activity			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			GGGATTCTTGTCCTCAGGGAT	0.507													C	47284162	T	C	47284162	3	2	193	1	0	0	0	0	1	0	0	0	6590	1667	58	3	46	3	GNGT2	17	47284162	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	16963842	47284162	33911048	69	13408											
WIPI1	55062	broad.mit.edu	37	chr17	66417949	66417949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgcccttctgatttccacGgcacaagattatctaccaaa	11	13	5	12	1	2	2	0	1	2	1	3	2	3	2	3	1	2	1	3	1	4	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr17:66417949G>A	uc010dey.3	-	12	1397	c.1306C>T	c.(1306-1308)Cgt>Tgt	p.R436C	WIPI1_uc010wqo.2_Missense_Mutation_p.R354C	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	436					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGATTTCCACGGCACAAGATT	0.468													A	66417949	G	A	66417949	3	1	193	1	0	0	0	0	1	0	0	0	17472	1116	39	1	38	1	WIPI1	17	66417949	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	19133787	66417949	14777261	70	13409											
CLUL1	27098	broad.mit.edu	37	chr18	633305	633305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgttccctgtagctcctgaCcacggaggcctgatttcaaa	9	11	9	12	1	1	2	1	2	0	0	3	3	3	3	4	2	1	3	4	2	2	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:633305C>A	uc010wys.2	+	7	1254	c.1020C>A	c.(1018-1020)gaC>gaA	p.D340E	CLUL1_uc002kkp.3_Missense_Mutation_p.D288E|CLUL1_uc002kkq.3_Missense_Mutation_p.D288E	NM_199167	NP_954636	Q15846	CLUL1_HUMAN	Homo sapiens clusterin-like 1 (retinal) (CLUL1), transcript variant 2, mRNA.	288					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						TAGCTCCTGACCACGGAGGCC	0.428													A	633305	C	A	633305	3	1	193	1	0	0	0	0	1	0	0	0	3601	506	18	4	882	4	CLUL1	18	633305	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08		633305	77443943	71	13410											
TCEB3C	162699	broad.mit.edu	37	chr18	44554624	44554624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaattgccttggccatcagCggggccactttcttggcagc	6	10	12	13	2	2	0	1	0	1	0	2	1	2	0	3	4	3	1	3	4	1	4			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr18:44554624C>T	uc010xdb.2	-	0	1826	c.1590G>A	c.(1588-1590)ccG>ccA	p.P530P	KATNAL2_uc010dnq.1_Intron|KATNAL2_uc002lco.3_Intron	NM_145653	NP_663628	Q8NG57	ELOA3_HUMAN	Homo sapiens transcription elongation factor B polypeptide 3C (elongin A3) (TCEB3C), mRNA.	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TGGCCATCAGCGGGGCCACTT	0.632													T	44554624	C	T	44554624	2	4	193	1	0	0	0	0	0	0	0	1	15783	755	27	1		1	TCEB3C	18	44554624	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	43921319	44554624	33522624	72	13411											
SLC39A3	29985	broad.mit.edu	37	chr19	2733097	2733097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acggccacccccacgaacagGctcaccactttctccccctc	8	6	5	22	2	2	0	1	0	1	0	4	1	2	0	6	2	1	1	6	2	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:2733097G>A	uc010xgy.1	-	2	851	c.597C>T	c.(595-597)agC>agT	p.S199S	SLC39A3_uc002lwg.3_Silent_p.S199S	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	199						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		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)		CCACGAACAGGCTCACCACTT	0.716													A	2733097	G	A	2733097	2	1	193	1	0	0	0	0	0	0	0	1	14713	1194	42	2		2	SLC39A3	19	2733097	Silent	SNP	G	TCGA-27-2521-01A-01D-1494-08		2733097	56395886	73	13412											
OR2Z1	284383	broad.mit.edu	37	chr19	8841547	8841547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttgatccgtgtggacTcccggctccatacacccatg	6	12	8	15	2	2	1	0	1	2	0	5	2	5	2	4	2	1	1	4	2	1	3			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:8841547T>C	uc010xkg.2	+	0	157	c.157T>C	c.(157-159)Tcc>Ccc	p.S53P		NM_001004699	NP_001004699	Q8NG97	OR2Z1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily Z, member 1 (OR2Z1), mRNA.	53					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCGTGTGGACTCCCGGCTCCA	0.542													C	8841547	T	C	8841547	3	2	193	1	0	0	0	0	1	0	0	0	11112	1551	54	3	159	3	OR2Z1	19	8841547	Missense_Mutation	SNP	T	TCGA-27-2521-01A-01D-1494-08	6108450	8841547	50287436	74	13413											
CIC	23152	broad.mit.edu	37	chr19	42795881	42795881	+	Frame_Shift_Del	DEL	C	C	-																															agtacctgtgcagaatggtgCccagccccccagcaaggtga																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:42795881delC	uc002otf.1	+	10	2910	c.2870delC	c.(2869-2871)gccfs	p.A957fs		NM_015125	NP_055940	Q96RK0	CIC_HUMAN	Homo sapiens capicua homolog (Drosophila) (CIC), mRNA.	957	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGAATGGTGCCCAGCCCCCC	0.602			"Mis, F, S"		oligodendroglioma								-	42795881	C	-	42795881	7	5	193	1	0	1	0	1	0	0	0	0	3454	739	26	0	2912	0	CIC	19	42795881	Frame_Shift_Del	DEL	C	TCGA-27-2521-01A-01D-1494-08	33954334	42795881	16333102	75	13414											
GPR4	2828	broad.mit.edu	37	chr19	46094298	46094298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgccacacagttgaggCtggtgaaagccagtgagctg	9	7	15	10	1	0	3	0	3	0	0	1	3	1	3	3	3	2	3	3	3	1	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:46094298C>T	uc002pcm.3	-	1	1772	c.827G>A	c.(826-828)aGc>aAc	p.S276N	OPA3_uc010xxk.2_Intron|GPR4_uc021uvw.1_Missense_Mutation_p.S276N	NM_005282	NP_005273	P46093	GPR4_HUMAN	Homo sapiens G protein-coupled receptor 4 (GPR4), mRNA.	276						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		ACAGTTGAGGCTGGTGAAAGC	0.647													T	46094298	C	T	46094298	3	4	193	1	0	0	0	0	1	0	0	0	6748	797	28	2	265	2	GPR4	19	46094298	Missense_Mutation	SNP	C	TCGA-27-2521-01A-01D-1494-08	3298417	46094298	13034685	76	13415											
ARHGAP35	2909	broad.mit.edu	37	chr19	47503900	47503901	+	Frame_Shift_Ins	INS	-	-	C																															ccaccccccagtccccaatgINScagccactgcttccctccca																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:47503900_47503901insC	uc010ekv.3	+	5	4455_4456	c.4455_4456insC	c.(4453-4458)atgcagfs	p.M1485fs		NM_004491	NP_004482	Q9NRY4	RHG35_HUMAN	Homo sapiens Rho GTPase activating protein 35 (ARHGAP35), mRNA.	1485	Pro-rich.				axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AGTCCCCAATGCAGCCACTGCT	0.649													C	47503901	-	C	47503900	7	5	193	1	0	1	1	0	0	0	0	0	6850	1319	46	0	4477	0	ARHGAP35	19	47503900	Frame_Shift_Ins	INS	-	TCGA-27-2521-01A-01D-1494-08	1409602	47503900	11625083	77	13416											
ZNF71	58491	broad.mit.edu	37	chr19	57132720	57132721	+	Frame_Shift_Ins	INS	-	-	G																															tccgttgttggggaggccacINSggggggacccacgaggaatg																										TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr19:57132720_57132721insG	uc002qnm.4	+	2	303_304	c.65_66insG	c.(64-66)acgfs	p.T22fs	ZNF71_uc021vcg.1_Frame_Shift_Ins_p.T22fs	NM_021216	NP_067039	Q9NQZ8	ZNF71_HUMAN	Homo sapiens zinc finger protein 71 (ZNF71), mRNA.	22						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		GGGGAGGCCACGGGGGGACCCA	0.554													G	57132721	-	G	57132720	7	5	193	1	0	1	1	0	0	0	0	0	18215	536	19	0	67	0	ZNF71	19	57132720	Frame_Shift_Ins	INS	-	TCGA-27-2521-01A-01D-1494-08	9628820	57132720	1996263	78	13417											
SPTLC3	55304	broad.mit.edu	37	chr20	13052999	13052999	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccggcccatctgcagtgcCccagggcctctgtttgattt	6	11	10	14	1	2	1	0	1	2	0	2	1	2	1	5	2	3	2	5	2	1	2			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:13052999C>G	uc002wod.1	+	2	688	c.399C>G	c.(397-399)gcC>gcG	p.A133A		NM_018327	NP_060797	Q9NUV7	SPTC3_HUMAN	Homo sapiens serine palmitoyltransferase, long chain base subunit 3 (SPTLC3), mRNA.	133					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	TCTGCAGTGCCCCAGGGCCTC	0.438													G	13052999	C	G	13052999	2	3	193	1	0	0	0	0	0	0	0	1	15221	610	22	4		4	SPTLC3	20	13052999	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08		13052999	49972521	79	13418											
ZNF831	128611	broad.mit.edu	37	chr20	57829379	57829379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcacagaagagggcagaGcacagaccctcttgccaggg	13	4	13	11	0	2	4	1	0	1	4	2	4	2	4	2	2	2	2	2	2	2	1			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chr20:57829379G>A	uc002yan.3	+	4	4615	c.4615G>A	c.(4615-4617)Gca>Aca	p.A1539T		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	1539						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGAGGGCAGAGCACAGACCCT	0.498													A	57829379	G	A	57829379	3	1	193	1	0	0	0	0	1	0	0	0	18284	971	34	2	4633	2	ZNF831	20	57829379	Missense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	44776380	57829379	5196141	80	13419											
MAGEB16	139604	broad.mit.edu	37	chrX	35820799	35820799	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagagcttctgagcacctAgagatgatatttggccttga	10	12	11	8	0	1	5	0	4	1	2	1	7	1	5	2	1	2	2	2	1	2	5			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:35820799A>G	uc010ngt.1	+	1	765	c.486A>G	c.(484-486)ctA>ctG	p.L162L	MAGEB16_uc022bus.1_Silent_p.L162L	NM_001099921	NP_001093391	A2A368	MAGBG_HUMAN	Homo sapiens melanoma antigen family B, 16 (MAGEB16), mRNA.	162	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						CTGAGCACCTAGAGATGATAT	0.468													G	35820799	A	G	35820799	2	3	193	1	0	0	0	0	0	0	0	1	9249	407	15	3		3	MAGEB16	23	35820799	Silent	SNP	A	TCGA-27-2521-01A-01D-1494-08		35820799	119449761	81	13420											
WDR13	64743	broad.mit.edu	37	chrX	48458765	48458765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgctgctcactcgaCggcagcatctccctgtgcca	5	9	10	17	2	2	0	1	0	1	0	4	1	2	0	3	2	4	4	3	2	0	0			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:48458765C>T	uc004dkj.2	+	4	1087	c.582C>T	c.(580-582)gaC>gaT	p.D194D	WDR13_uc004dkk.2_Silent_p.D102D|WDR13_uc004dkl.4_Silent_p.D102D|WDR13_uc011mme.2_Silent_p.D72D	NM_017883	NP_001159898	Q9H1Z4	WDR13_HUMAN	Homo sapiens WD repeat domain 13 (WDR13), transcript variant 1, mRNA.	194						cytoplasm|nucleus				endometrium(1)|large_intestine(4)|lung(4)|ovary(2)	11						GCTCACTCGACGGCAGCATCT	0.632													T	48458765	C	T	48458765	2	4	193	1	0	0	0	0	0	0	0	1	17377	535	19	1		1	WDR13	23	48458765	Silent	SNP	C	TCGA-27-2521-01A-01D-1494-08	12637966	48458765	106811795	82	13421											
ATRX	546	broad.mit.edu	37	chrX	76875916	76875916	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttaaaataatcctcctccttGatcgtatagaattcatagct	13	15	4	9	1	1	2	1	1	0	1	5	2	4	2	3	0	1	2	3	0	7	7			TCGA-27-2521-01A-01D-1494-08	TCGA-27-2521-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3678d5f3-9a29-4750-b0a9-20e971ff6aa4	04c01b52-cf2f-4432-a541-c20085c3db62	g.chrX:76875916G>C	uc004ecp.4	-	19	5451	c.5219C>G	c.(5218-5220)tCa>tGa	p.S1740*	ATRX_uc004ecq.4_Nonsense_Mutation_p.S1702*|ATRX_uc004eco.4_Nonsense_Mutation_p.S1525*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1740	Helicase ATP-binding.				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.S1740*(3)|p.R1739*(1)|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)	CCTCCTCCTTGATCGTATAGA	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76875916	G	C	76875916	4	2	193	1	0	0	0	0	0	1	0	0	1213	1294	45	4	2323	4	ATRX	23	76875916	Nonsense_Mutation	SNP	G	TCGA-27-2521-01A-01D-1494-08	28417151	76875916	78394644	83	13422											
HRNR	388697	broad.mit.edu	37	chr1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagctagatccgtgtcGttcacccctagatgactgtc	8	11	9	13	2	1	4	1	2	0	2	4	4	2	4	4	0	1	2	4	0	2	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:152187663G>A	uc001ezt.1	-	2	6518	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2148					keratinization		calcium ion binding|protein binding	p.R2148*(2)|p.R2148L(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587													A	152187663	G	A	152187663	4	1	194	1	0	0	0	0	0	1	0	0	7414	1153	40	1	2114	1	HRNR	1	152187663	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		152187663	97062958	1	13423											
MEF2D	4209	broad.mit.edu	37	chr1	156446904	156446904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgggtaggtgggggtGgagacttggcagggatgacc	6	9	21	5	0	0	2	0	1	0	1	0	4	0	3	1	7	1	3	1	7	1	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:156446904G>A	uc001fpc.3	-	6	1145	c.755C>T	c.(754-756)cCa>cTa	p.P252L	MEF2D_uc001fpb.3_Missense_Mutation_p.P252L|MEF2D_uc001fpd.3_Missense_Mutation_p.P252L|MEF2D_uc009wsa.3_Non-coding_Transcript|MEF2D_uc001fpe.1_Missense_Mutation_p.P252L	NM_005920	NP_005911	Q14814	MEF2D_HUMAN	Homo sapiens myocyte enhancer factor 2D (MEF2D), mRNA.	252	Poly-Pro.				apoptosis|muscle organ development|nervous system development|positive regulation of transcription from RNA polymerase II promoter	nucleus	activating transcription factor binding|histone deacetylase binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AGGTGGGGGTGGAGACTTGGC	0.607													A	156446904	G	A	156446904	3	1	194	1	0	0	0	0	1	0	0	0	9533	1348	47	2	834	2	MEF2D	1	156446904	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	4259241	156446904	92803717	2	13424											
FCER1A	2205	broad.mit.edu	37	chr1	159275846	159275846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttcctcaggtgccatGgttggaggaactgggatgtg	6	11	14	10	0	2	0	1	0	1	0	3	3	3	3	3	5	2	1	3	5	1	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:159275846G>A	uc001ftq.3	+	4	497	c.400G>A	c.(400-402)Ggt>Agt	p.G134S		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	134	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CAGGTGCCATGGTTGGAGGAA	0.468													A	159275846	G	A	159275846	3	1	194	1	0	0	0	0	1	0	0	0	5823	1348	47	2	414	2	FCER1A	1	159275846	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	2828942	159275846	89974775	3	13425											
DUSP27	92235	broad.mit.edu	37	chr1	167097485	167097485	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaggagagcccagagccCtacttcttccgccggacccc	8	5	11	17	3	1	3	0	0	1	3	2	6	2	4	6	2	3	0	6	2	1	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:167097485C>A	uc001geb.1	+	4	3133	c.3117C>A	c.(3115-3117)ccC>ccA	p.P1039P		NM_001080426	NP_001073895	Q5VZP5	DUS27_HUMAN	Homo sapiens dual specificity phosphatase 27 (putative) (DUSP27), mRNA.	1039					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GCCCAGAGCCCTACTTCTTCC	0.587													A	167097485	C	A	167097485	2	1	194	1	0	0	0	0	0	0	0	1	4863	668	24	4		4	DUSP27	1	167097485	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08	7821639	167097485	82153136	4	13426											
HMCN1	83872	broad.mit.edu	37	chr1	185878633	185878633	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgattgaaattcgcaaTcctttaggtgagatatatca	14	13	7	7	1	1	3	1	3	0	1	3	4	2	3	2	1	0	1	2	1	6	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:185878633T>A	uc001grq.1	+	4	1015	c.786T>A	c.(784-786)aaT>aaA	p.N262K		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	262					response to stimulus|visual perception	basement membrane	calcium ion binding	p.R261H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATTCGCAATCCTTTAGGTG	0.363													A	185878633	T	A	185878633	3	1	194	1	0	0	0	0	1	0	0	0	7275	1432	50	5	804	5	HMCN1	1	185878633	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	18781148	185878633	63371988	5	13427											
LAMB3	3914	broad.mit.edu	37	chr1	209790792	209790792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcgctggcaccttccGcaagctgctgggcctggact	4	9	12	16	2	0	0	0	0	0	0	2	1	1	1	4	3	3	6	4	3	1	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209790792G>A	uc001hhg.3	-	19	3581	c.3191C>T	c.(3190-3192)gCg>gTg	p.A1064V	LAMB3_uc009xco.3_Missense_Mutation_p.A1064V|LAMB3_uc001hhh.3_Missense_Mutation_p.A1064V	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	1064	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GGCACCTTCCGCAAGCTGCTG	0.627													A	209790792	G	A	209790792	3	1	194	1	0	0	0	0	1	0	0	0	8671	1087	38	1	339	1	LAMB3	1	209790792	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	23912159	209790792	39459829	6	13428											
LAMB3	3914	broad.mit.edu	37	chr1	209801465	209801465	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccctgcacatgctccttGcacacacactgcccggtcac	7	9	6	19	1	2	0	1	0	1	0	4	0	3	0	3	1	4	3	3	1	0	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:209801465G>C	uc001hhg.3	-	9	1593	c.1203C>G	c.(1201-1203)tgC>tgG	p.C401W	LAMB3_uc009xco.3_Missense_Mutation_p.C401W|LAMB3_uc001hhh.3_Missense_Mutation_p.C401W|LAMB3_uc010psl.1_Non-coding_Transcript	NM_001017402	NP_001121113	Q13751	LAMB3_HUMAN	Homo sapiens laminin, beta 3 (LAMB3), transcript variant 2, mRNA.	401	Laminin EGF-like 3.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CATGCTCCTTGCACACACACT	0.642											OREG0014217	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	209801465	G	C	209801465	3	2	194	1	0	0	0	0	1	0	0	0	8671	1311	46	4	2367	4	LAMB3	1	209801465	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	10673	209801465	39449156	7	13429											
PGBD2	267002	broad.mit.edu	37	chr1	249212387	249212387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctgacacaacatctcaagGgaggcgaagcaggcggttgg	11	6	15	9	2	1	1	1	1	1	0	2	3	1	2	0	5	3	3	0	5	3	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212387G>A	uc001ifh.3	+	2	1751	c.1604G>A	c.(1603-1605)gGg>gAg	p.G535E	PGBD2_uc001ifg.3_Missense_Mutation_p.G284E|PGBD2_uc009xhd.3_Missense_Mutation_p.G532E|PGBD2_uc021pmh.1_Missense_Mutation_p.G284E	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	535										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ACATCTCAAGGGAGGCGAAGC	0.547													A	249212387	G	A	249212387	3	1	194	1	0	0	0	0	1	0	0	0	11858	1232	43	2	1610	2	PGBD2	1	249212387	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	39410922	249212387	38234	8	13430											
PGBD2	267002	broad.mit.edu	37	chr1	249212544	249212544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtccatgccaaatgcttcagGgagtaccacatccggtgaca	11	8	10	12	1	1	1	1	1	0	0	3	2	3	2	4	2	3	2	4	2	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr1:249212544G>T	uc001ifh.3	+	2	1908	c.1761G>T	c.(1759-1761)agG>agT	p.R587S	PGBD2_uc001ifg.3_Missense_Mutation_p.R336S|PGBD2_uc009xhd.3_Missense_Mutation_p.R584S|PGBD2_uc021pmh.1_Missense_Mutation_p.R336S	NM_170725	NP_001017434	Q6P3X8	PGBD2_HUMAN	Homo sapiens piggyBac transposable element derived 2 (PGBD2), transcript variant 1, mRNA.	587										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AATGCTTCAGGGAGTACCACA	0.478													T	249212544	G	T	249212544	3	4	194	1	0	0	0	0	1	0	0	0	11858	1223	43	4	1767	4	PGBD2	1	249212544	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	157	249212544	38077	9	13431											
HK2	3099	broad.mit.edu	37	chr2	75081480	75081480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttggagatctctaagCggttccgcaaggagatggag	9	9	13	10	2	2	2	0	0	2	2	4	5	3	3	2	4	1	2	2	4	2	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:75081480C>T	uc002snd.3	+	1	2050	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W		NM_000189	NP_000180	P52789	HXK2_HUMAN	Homo sapiens hexokinase 2 (HK2), mRNA.	42	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R42Q(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GATCTCTAAGCGGTTCCGCAA	0.527													T	75081480	C	T	75081480	3	4	194	1	0	0	0	0	1	0	0	0	7246	759	27	1	130	1	HK2	2	75081480	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		75081480	168117893	10	13432											
UGGT1	56886	broad.mit.edu	37	chr2	128944331	128944331	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggctttggtgtgaaacgtgGtgtgatgacgcctctaagaa	9	12	14	6	2	1	4	0	3	1	1	1	4	1	4	1	3	1	1	1	3	3	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:128944331G>A	uc002tps.3	+	38	4612	c.4434G>A	c.(4432-4434)tgG>tgA	p.W1478*	UGGT1_uc002tpr.3_Nonsense_Mutation_p.W1454*	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1478	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GTGAAACGTGGTGTGATGACG	0.413													A	128944331	G	A	128944331	4	1	194	1	0	0	0	0	0	1	0	0	17043	1270	44	2	4588	2	UGGT1	2	128944331	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	53862851	128944331	114255042	11	13433											
TTN	7273	broad.mit.edu	37	chr2	179571370	179571370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttggtggatgaaaacaCgacctccttggttcagctgt	8	14	10	9	1	1	1	1	1	0	0	2	3	2	2	2	3	2	2	2	3	2	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:179571370C>T	uc021vsy.1	-	98	25724	c.25499G>A	c.(25498-25500)cGt>cAt	p.R8500H	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.R5161H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	9427	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGAAAACACGACCTCCTTG	0.443													T	179571370	C	T	179571370	3	4	194	1	0	0	0	0	1	0	0	0	16837	536	19	1	75342	1	TTN	2	179571370	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	50627039	179571370	63628003	12	13434											
AQP12B	653437	broad.mit.edu	37	chr2	241621969	241621969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaactcctgcagggacaCggtggggttggccgaggccc	7	5	18	11	2	0	0	0	0	0	0	1	4	1	2	3	7	2	2	3	7	1	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr2:241621969C>T	uc010fzj.3	-	0	349	c.286G>A	c.(286-288)Gtg>Atg	p.V96M	AQP12B_uc002vzt.3_Intron	NM_001102467	NP_001095937	A6NM10	AQ12B_HUMAN	Homo sapiens aquaporin 12B (AQP12B), mRNA.	84						integral to membrane	transporter activity	p.V96V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|lung(8)|ovary(1)	13		all_epithelial(40;1.71e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;2.2e-31)|all cancers(36;1.08e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.52e-06)|Lung(119;0.00163)|LUSC - Lung squamous cell carcinoma(224;0.008)|Colorectal(34;0.0124)|COAD - Colon adenocarcinoma(134;0.0757)		TGCAGGGACACGGTGGGGTTG	0.687													T	241621969	C	T	241621969	3	4	194	1	0	0	0	0	1	0	0	0	828	536	19	1	649	1	AQP12B	2	241621969	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	62050599	241621969	1577404	13	13435											
DCLK3	85443	broad.mit.edu	37	chr3	36779774	36779774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtcttttcaatctccaccCcaagatgcttctctcccctt	7	14	4	16	0	4	1	1	0	3	1	7	1	5	1	5	1	1	1	5	1	2	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:36779774C>T	uc003cgi.2	-	1	868	c.377G>A	c.(376-378)gGg>gAg	p.G126E		NM_033403	NP_208382	Q9C098	DCLK3_HUMAN	Homo sapiens doublecortin-like kinase 3 (DCLK3), mRNA.	126						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.G126E(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AATCTCCACCCCAAGATGCTT	0.567													T	36779774	C	T	36779774	3	4	194	1	0	0	0	0	1	0	0	0	4327	623	22	2	1585	2	DCLK3	3	36779774	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		36779774	161242656	14	13436											
SLC6A20	54716	broad.mit.edu	37	chr3	45801400	45801400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccgtgaggatgtagtcGctcaggtagaagacaaagag	12	7	14	8	2	1	4	1	1	0	3	3	5	2	5	2	2	0	3	2	2	4	2	rs143985135		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:45801400G>A	uc011bai.2	-	9	1702	c.1578C>T	c.(1576-1578)agC>agT	p.S526S	SLC6A20_uc003cow.3_Silent_p.S176S|SLC6A20_uc011baj.2_Silent_p.S489S	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	526					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.S526S(1)|p.S489S(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GGATGTAGTCGCTCAGGTAGA	0.592													A	45801400	G	A	45801400	2	1	194	1	0	0	0	0	0	0	0	1	14778	1078	38	1		1	SLC6A20	3	45801400	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08	9021626	45801400	152221030	15	13437											
NIT2	56954	broad.mit.edu	37	chr3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgttctcagctttcCgcttggccctcatccagctt	3	17	7	14	1	3	0	2	0	2	0	6	0	5	0	3	1	2	4	3	1	0	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:100057936C>T	uc003dtv.3	+	1	87	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C	NIT2_uc011bha.1_Missense_Mutation_p.R5C	NM_020202	NP_064587	Q9NQR4	NIT2_HUMAN	Homo sapiens nitrilase family, member 2 (NIT2), mRNA.	5	CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													T	100057936	C	T	100057936	3	4	194	1	0	0	0	0	1	0	0	0	10510	652	23	1	19	1	NIT2	3	100057936	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	54256536	100057936	97964494	16	13438											
DLG1	1739	broad.mit.edu	37	chr3	196921382	196921382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctgagacatgaaccaattCtggacctatcacttcatttg	11	13	6	11	0	4	2	2	2	2	1	4	4	4	3	2	1	1	0	2	1	3	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr3:196921382C>G	uc010ial.3	-	4	656	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	DLG1_uc011bud.2_5'UTR|DLG1_uc003fxo.4_Missense_Mutation_p.E133Q|DLG1_uc003fxn.4_Missense_Mutation_p.E133Q|DLG1_uc011bue.2_Missense_Mutation_p.E133Q|DLG1_uc011buf.1_Non-coding_Transcript|DLG1_uc003fxp.2_Non-coding_Transcript|DLG1_uc010iam.1_Missense_Mutation_p.E133Q	NM_001098424	NP_001091894	Q12959	DLG1_HUMAN	Homo sapiens discs, large homolog 1 (Drosophila) (DLG1), transcript variant 1, mRNA.	133					actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAACCAATTCTGGACCTATC	0.353													G	196921382	C	G	196921382	3	3	194	1	0	0	0	0	1	0	0	0	4593	922	32	4	2509	4	DLG1	3	196921382	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	96863446	196921382	1101048	17	13439											
SLIT2	9353	broad.mit.edu	37	chr4	20543202	20543202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcctgaaagaaataccCatccaggatgtggccattca	13	10	7	11	0	1	2	1	1	0	1	3	3	3	3	4	2	2	0	4	2	4	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:20543202C>T	uc003gpr.1	+	19	2307	c.2103C>T	c.(2101-2103)ccC>ccT	p.P701P	SLIT2_uc003gps.1_Silent_p.P693P	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	701	LRRCT 3.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						AAGAAATACCCATCCAGGATG	0.443													T	20543202	C	T	20543202	2	4	194	1	0	0	0	0	0	0	0	1	14834	581	21	2		2	SLIT2	4	20543202	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		20543202	170611074	18	13440											
N4BP2	55728	broad.mit.edu	37	chr4	40119548	40119548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgttggaacattatcaacGttttgtttcagtgccaataa	13	15	7	6	1	2	0	2	0	0	0	2	1	2	1	1	1	3	3	1	1	6	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:40119548G>A	uc003guy.4	+	7	2062	c.1724G>A	c.(1723-1725)cGt>cAt	p.R575H	N4BP2_uc010ifq.3_Missense_Mutation_p.R495H|N4BP2_uc010ifr.3_Missense_Mutation_p.R495H	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	575						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CATTATCAACGTTTTGTTTCA	0.363													A	40119548	G	A	40119548	3	1	194	1	0	0	0	0	1	0	0	0	10186	1145	40	1	1746	1	N4BP2	4	40119548	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	19576346	40119548	151034728	19	13441											
PCDH10	57575	broad.mit.edu	37	chr4	134084209	134084209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggatgccttcttttGtcccttctgatggacgccag	4	14	12	11	1	2	1	0	1	2	0	3	3	3	3	3	3	2	1	3	3	0	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:134084209G>T	uc003iha.3	+	3	3701	c.2875G>T	c.(2875-2877)Gtc>Ttc	p.V959F		NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN	Homo sapiens protocadherin 10 (PCDH10), transcript variant 1, mRNA.	959					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCCTTCTTTTGTCCCTTCTGA	0.488													T	134084209	G	T	134084209	3	4	194	1	0	0	0	0	1	0	0	0	11583	1377	48	4	2949	4	PCDH10	4	134084209	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	93964661	134084209	57070067	20	13442											
DCLK2	166614	broad.mit.edu	37	chr4	151170830	151170830	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actaccaccggggtctccgtCatcatggtgagtggaaggcg	8	8	14	11	3	3	1	2	1	1	0	4	2	3	2	3	5	1	0	3	5	2	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr4:151170830C>G	uc003ilo.4	+	15	2872	c.2118C>G	c.(2116-2118)gtC>gtG	p.V706V	DCLK2_uc003ilp.4_Non-coding_Transcript|DCLK2_uc003ilm.4_Silent_p.V689V|DCLK2_uc003iln.4_Silent_p.V688V	NM_001040261	NP_001035351	Q8N568	DCLK2_HUMAN	Homo sapiens doublecortin-like kinase 2 (DCLK2), transcript variant 2, mRNA.	689					intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GGGTCTCCGTCATCATGGTGA	0.532													G	151170830	C	G	151170830	2	3	194	1	0	0	0	0	0	0	0	1	4326	813	29	4		4	DCLK2	4	151170830	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08	17086621	151170830	39983446	21	13443											
AP3S1	1176	broad.mit.edu	37	chr5	115177778	115177778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacaaccacgggaagccgcGgctctccaagttctaccagc	11	5	9	16	3	2	0	0	0	2	0	3	1	2	1	4	2	5	2	4	2	5	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:115177778G>A	uc003krl.3	+	0	160	c.44G>A	c.(43-45)cGg>cAg	p.R15Q	AP3S1_uc003krk.3_5'UTR|ATG12_uc021ycr.1_5'Flank|ATG12_uc021ycs.1_5'Flank|ATG12_uc003krh.3_5'Flank|ATG12_uc003kri.3_5'Flank	NM_001284	NP_001275	Q92572	AP3S1_HUMAN	Homo sapiens adaptor-related protein complex 3, sigma 1 subunit (AP3S1), mRNA.	15					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		GGGAAGCCGCGGCTCTCCAAG	0.692													A	115177778	G	A	115177778	3	1	194	1	0	0	0	0	1	0	0	0	751	1116	39	1	46	1	AP3S1	5	115177778	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		115177778	65737482	22	13444											
DOCK2	1794	broad.mit.edu	37	chr5	169506008	169506008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattagcatcacccaagaCgccgagagtggagcaggagg	13	4	15	9	2	1	2	1	0	0	2	1	6	1	5	2	4	2	2	2	4	3	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr5:169506008C>T	uc003maf.3	+	48	5104	c.5024C>T	c.(5023-5025)aCg>aTg	p.T1675M	DOCK2_uc011der.2_Non-coding_Transcript|DOCK2_uc010jjm.3_Missense_Mutation_p.T1167M|DOCK2_uc003mah.3_Missense_Mutation_p.T231M	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	1675					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCCAAGACGCCGAGAGTG	0.557													T	169506008	C	T	169506008	3	4	194	1	0	0	0	0	1	0	0	0	4726	536	19	1	5218	1	DOCK2	5	169506008	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	54328230	169506008	11409252	23	13445											
WDR27	253769	broad.mit.edu	37	chr6	170036474	170036474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtgcctacctcttaaTctcatctttgcaagtgtcaa	8	13	10	10	0	4	0	2	0	3	0	5	0	4	0	2	3	3	1	2	3	4	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr6:170036474T>C	uc003qwx.3	-	18	2516	c.1996A>G	c.(1996-1998)Att>Gtt	p.I666V	WDR27_uc003qwv.2_Intron|WDR27_uc021zio.1_Missense_Mutation_p.I666V|WDR27_uc003qwy.3_Missense_Mutation_p.I539V	NM_182552	NP_872358	A2RRH5	WDR27_HUMAN	Homo sapiens WD repeat domain 27 (WDR27), transcript variant 1, mRNA.	636										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TACCTCTTAATCTCATCTTTG	0.378													C	170036474	T	C	170036474	3	2	194	1	0	0	0	0	1	0	0	0	17386	1435	50	3	605	3	WDR27	6	170036474	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		170036474	1078593	24	13446											
FAM126A	84668	broad.mit.edu	37	chr7	23023600	23023600	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggataactttatagagagatGaaactaaagaactcttgtct	16	12	8	5	0	2	4	0	1	2	3	2	6	2	5	0	1	3	0	0	1	7	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:23023600G>T	uc003svm.4	-	2	371	c.116C>A	c.(115-117)tCa>tAa	p.S39*	FAM126A_uc003svn.4_5'UTR|FAM126A_uc011jyr.1_Intron	NM_032581	NP_115970	Q9BYI3	HYCCI_HUMAN	Homo sapiens family with sequence similarity 126, member A (FAM126A), mRNA.	39						cytoplasm|membrane	signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|urinary_tract(2)	23						ATAGAGAGATGAAACTAAAGA	0.269													T	23023600	G	T	23023600	4	4	194	1	0	0	0	0	0	1	0	0	5474	1294	45	4	1485	4	FAM126A	7	23023600	Nonsense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		23023600	136115063	25	13447											
MUC17	140453	broad.mit.edu	37	chr7	100683180	100683180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtggccagttctgaggctgGcaccctttcaacaactcctg	8	10	10	13	0	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr7:100683180G>A	uc003uxp.1	+	2	8536	c.8483G>A	c.(8482-8484)gGc>gAc	p.G2828D	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2828	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)					TCTGAGGCTGGCACCCTTTCA	0.498													A	100683180	G	A	100683180	3	1	194	1	0	0	0	0	1	0	0	0	10050	1203	42	2	8493	2	MUC17	7	100683180	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	77659580	100683180	58455483	26	13448											
ARFGEF1	10565	broad.mit.edu	37	chr8	68140317	68140317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacattcttgggtgtgtcgTggaaagtaattcatccatag	12	13	10	6	1	2	0	1	0	1	0	4	1	3	1	1	2	1	1	1	2	4	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:68140317T>C	uc003xxo.2	-	24	3862	c.3472A>G	c.(3472-3474)Acg>Gcg	p.T1158A	ARFGEF1_uc003xxl.1_Missense_Mutation_p.T612A|ARFGEF1_uc003xxn.2_Missense_Mutation_p.T141A	NM_006421	NP_006412	Q9Y6D6	BIG1_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited) (ARFGEF1), mRNA.	1158					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GGGTGTGTCGTGGAAAGTAAT	0.318													C	68140317	T	C	68140317	3	2	194	1	0	0	0	0	1	0	0	0	855	1696	59	3	2137	3	ARFGEF1	8	68140317	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		68140317	78223705	27	13449											
SLC39A4	55630	broad.mit.edu	37	chr8	145642115	145642115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcggggacgccgtcGccgtcaccaccagcacagcc	8	2	13	18	5	1	0	1	0	0	0	2	1	1	1	5	3	3	2	5	3	0	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr8:145642115G>A	uc003zcq.3	-	0	159	c.59C>T	c.(58-60)gCg>gTg	p.A20V	SLC39A4_uc003zco.3_5'Flank|SLC39A4_uc003zcp.3_5'Flank	NM_130849	NP_570901	Q6P5W5	S39A4_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 4 (SLC39A4), transcript variant 2, mRNA.	20						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGACGCCGTCGCCGTCACCAC	0.662													A	145642115	G	A	145642115	3	1	194	1	0	0	0	0	1	0	0	0	14714	1087	38	1	2049	1	SLC39A4	8	145642115	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	77501798	145642115	721907	28	13450											
WASH1	375690	broad.mit.edu	37	chr9	17147	17147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggcccaggtctggcacaTagaagtagttctctgggacc	8	9	12	12	0	2	1	0	0	2	1	3	2	2	2	3	4	0	3	3	4	3	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:17147T>C	uc010mgm.1	-	6	844	c.701A>G	c.(700-702)tAt>tGt	p.Y234C	WASH1_uc022bcs.1_Non-coding_Transcript|WASH1_uc011llq.1_Non-coding_Transcript|WASH1_uc003zfu.1_Missense_Mutation_p.Y247C	NM_182905	NP_878908	A8K0Z3	WASH1_HUMAN	Homo sapiens WAS protein family homolog 1 (WASH1), mRNA.	234					Arp2/3 complex-mediated actin nucleation|retrograde transport, endosome to Golgi	early endosome membrane|recycling endosome membrane|WASH complex	actin binding|alpha-tubulin binding					all_lung(41;0.218)	all_cancers(5;3.04e-16)|all_epithelial(5;4.68e-12)|all_lung(10;1.94e-10)|Lung NSC(10;3.61e-10)|Acute lymphoblastic leukemia(5;0.00439)|Breast(48;0.0148)|all_hematologic(5;0.024)|Prostate(43;0.122)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GTCTGGCACATAGAAGTAGTT	0.587													C	17147	T	C	17147	3	2	194	1	0	0	0	0	1	0	0	0	17357	1406	49	3	716	3	WASH1	9	17147	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08		17147	141196284	29	13451											
PAPPA	5069	broad.mit.edu	37	chr9	118997909	118997909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatctcaataggaaattcGtagacatgtaagtgcattct	14	13	7	7	1	2	1	1	0	2	1	4	2	2	2	0	1	2	3	0	1	6	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:118997909G>A	uc004bjn.3	+	6	3106	c.2725G>A	c.(2725-2727)Gta>Ata	p.V909I	PAPPA_uc011lxp.1_Missense_Mutation_p.V604I|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	909					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGGAAATTCGTAGACATGTA	0.517													A	118997909	G	A	118997909	3	1	194	1	0	0	0	0	1	0	0	0	11508	1145	40	1	2751	1	PAPPA	9	118997909	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	118980762	118997909	22215522	30	13452											
LAMC3	10319	broad.mit.edu	37	chr9	133907535	133907535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccagtcctactattatgCcgtgtccgacttctctgtgg	5	14	9	13	2	1	0	0	0	1	0	5	1	4	0	4	1	2	1	4	1	3	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr9:133907535C>T	uc004caa.1	+	2	880	c.782C>T	c.(781-783)gCc>gTc	p.A261V		NM_006059	NP_006050	Q9Y6N6	LAMC3_HUMAN	Homo sapiens laminin, gamma 3 (LAMC3), mRNA.	261	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TACTATTATGCCGTGTCCGAC	0.612													T	133907535	C	T	133907535	3	4	194	1	0	0	0	0	1	0	0	0	8675	739	26	2	792	2	LAMC3	9	133907535	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	14909626	133907535	7305896	31	13453											
LBX1	10660	broad.mit.edu	37	chr10	102987489	102987489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggtgaaggccgtgcgCgactttcgccgcttcttagg	4	12	15	10	5	1	1	0	1	1	0	2	2	1	1	2	4	1	2	2	4	2	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr10:102987489C>T	uc001ksx.3	-	1	529	c.384G>A	c.(382-384)tcG>tcA	p.S128S	FLJ41350_uc010qpy.2_5'Flank	NM_006562	NP_006553	P52954	LBX1_HUMAN	Homo sapiens ladybird homeobox 1 (LBX1), mRNA.	128					muscle organ development		sequence-specific DNA binding			large_intestine(2)|lung(4)|ovary(1)	7		Colorectal(252;0.234)		Epithelial(162;3.22e-09)|all cancers(201;1.79e-07)		AGGCCGTGCGCGACTTTCGCC	0.587													T	102987489	C	T	102987489	2	4	194	1	0	0	0	0	0	0	0	1	8712	755	27	1		1	LBX1	10	102987489	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		102987489	32547258	32	13454											
OR52B2	255725	broad.mit.edu	37	chr11	6190634	6190634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcttgatgtcaaagaacCggtgggctacaccctcacgt	11	9	10	11	2	3	2	2	1	1	1	3	2	3	2	2	2	2	1	2	2	4	2	rs147668114	by1000genomes	TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:6190634C>T	uc010qzy.2	-	0	923	c.923G>A	c.(922-924)cGg>cAg	p.R308Q		NM_001004052	NP_001004052	Q96RD2	O52B2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 2 (OR52B2), mRNA.	308					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R308Q(3)|p.R308R(1)		NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTCAAAGAACCGGTGGGCTAC	0.478													T	6190634	C	T	6190634	3	4	194	1	0	0	0	0	1	0	0	0	11187	652	23	1	51	1	OR52B2	11	6190634	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		6190634	128815882	33	13455											
INSC	387755	broad.mit.edu	37	chr11	15260573	15260573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagtgaccctggctcGtctcagccgagacccagatg	8	7	12	14	2	1	3	1	1	1	2	3	4	1	3	3	1	3	3	3	1	0	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:15260573G>C	uc001mlz.3	+	10	1457	c.1346G>C	c.(1345-1347)cGt>cCt	p.R449P	INSC_uc001mly.3_Missense_Mutation_p.R496P|INSC_uc001mma.3_Missense_Mutation_p.R449P|INSC_uc010rcs.2_Missense_Mutation_p.R484P|INSC_uc001mmb.3_Missense_Mutation_p.R449P|INSC_uc001mmc.3_Missense_Mutation_p.R407P	NM_001042536	NP_001036001	Q1MX18	INSC_HUMAN	Homo sapiens inscuteable homolog (Drosophila) (INSC), transcript variant 2, mRNA.	496					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACCCTGGCTCGTCTCAGCCGA	0.607													C	15260573	G	C	15260573	3	2	194	1	0	0	0	0	1	0	0	0	7822	1145	40	4	1529	4	INSC	11	15260573	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	9069939	15260573	119745943	34	13456											
HIPK3	10114	broad.mit.edu	37	chr11	33362619	33362619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagaccagttgcttcaagCagtactgctacactgactgc	11	11	8	11	0	1	2	1	1	0	1	1	2	1	2	1	0	6	5	1	0	4	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:33362619C>A	uc001mul.1	+	6	1989	c.1719C>A	c.(1717-1719)agC>agA	p.S573R	HIPK3_uc001mum.1_Missense_Mutation_p.S573R|HIPK3_uc009yjv.1_Missense_Mutation_p.S573R	NM_005734	NP_005725	Q9H422	HIPK3_HUMAN	Homo sapiens homeodomain interacting protein kinase 3 (HIPK3), transcript variant 1, mRNA.	573					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TTGCTTCAAGCAGTACTGCTA	0.318													A	33362619	C	A	33362619	3	1	194	1	0	0	0	0	1	0	0	0	7173	709	25	4	1741	4	HIPK3	11	33362619	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	18102046	33362619	101643897	35	13457											
DGKZ	8525	broad.mit.edu	37	chr11	46393049	46393049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcctcagtaccacagcaagGtgtcctgcttcatgctgcag	8	10	9	14	0	2	0	2	0	0	0	4	0	4	0	3	1	5	5	3	1	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr11:46393049G>A	uc001ncn.1	+	8	1344	c.1219G>A	c.(1219-1221)Gtg>Atg	p.V407M	DGKZ_uc001nch.2_Missense_Mutation_p.V235M|DGKZ_uc010rgq.2_Missense_Mutation_p.V201M|DGKZ_uc010rgr.2_Missense_Mutation_p.V223M|DGKZ_uc001ncj.2_Missense_Mutation_p.V185M|DGKZ_uc001nck.2_5'UTR|DGKZ_uc001ncm.2_Missense_Mutation_p.V218M|DGKZ_uc001ncl.2_Missense_Mutation_p.V219M|DGKZ_uc009yky.1_Missense_Mutation_p.V219M|DGKZ_uc010rgs.1_Missense_Mutation_p.V196M	NM_001105540	NP_001099010	Q13574	DGKZ_HUMAN	Homo sapiens diacylglycerol kinase, zeta (DGKZ), transcript variant 4, mRNA.	407					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		CCACAGCAAGGTGTCCTGCTT	0.701													A	46393049	G	A	46393049	3	1	194	1	0	0	0	0	1	0	0	0	4513	1261	44	2	1696	2	DGKZ	11	46393049	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	13030430	46393049	88613467	36	13458											
PEX5	5830	broad.mit.edu	37	chr12	7343512	7343512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgggagtagcttctgAagatgaggtaaatagaccag	12	10	13	6	0	1	4	0	2	1	2	1	5	1	5	2	2	1	3	2	2	5	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7343512A>G	uc009zfu.2	+	3	756	c.176A>G	c.(175-177)gAa>gGa	p.E59G	PEX5_uc001qsw.3_Missense_Mutation_p.E59G|PEX5_uc010sgc.2_Missense_Mutation_p.E74G|PEX5_uc001qsu.3_Missense_Mutation_p.E59G|PEX5_uc010sgd.2_Missense_Mutation_p.E80G|PEX5_uc001qsv.3_Missense_Mutation_p.E59G	NM_001131026	NP_001124498	P50542	PEX5_HUMAN	Homo sapiens peroxisomal biogenesis factor 5 (PEX5), transcript variant 5, mRNA.	59					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTAGCTTCTGAAGATGAGGTA	0.428													G	7343512	A	G	7343512	3	3	194	1	0	0	0	0	1	0	0	0	11825	246	9	3	227	3	PEX5	12	7343512	Missense_Mutation	SNP	A	TCGA-27-2523-01A-01D-1494-08		7343512	126508383	37	13459											
CD163	9332	broad.mit.edu	37	chr12	7651670	7651670	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaatgacagatgcatgaTctatgttgaagttatcatca	15	13	7	6	0	3	4	2	3	1	1	3	4	3	4	0	0	2	3	0	0	5	4			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:7651670T>A	uc001qsz.3	-	3	700	c.572A>T	c.(571-573)gAt>gTt	p.D191V	CD163_uc001qta.3_Missense_Mutation_p.D191V|CD163_uc009zfw.2_Missense_Mutation_p.D191V	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	191	SRCR 2.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGATGCATGATCTATGTTGAA	0.428													A	7651670	T	A	7651670	3	1	194	1	0	0	0	0	1	0	0	0	2997	1435	50	5	2950	5	CD163	12	7651670	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	308158	7651670	126200225	38	13460											
METTL7A	25840	broad.mit.edu	37	chr12	51319018	51319018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaacctgcaggagtttgCgggcccctccgggaaactct	8	8	12	13	2	1	0	0	0	1	0	2	2	2	2	4	3	4	3	4	3	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:51319018C>T	uc001rxb.3	+	0	485	c.197C>T	c.(196-198)gCg>gTg	p.A66V	METTL7A_uc010smv.1_Missense_Mutation_p.A66V	NM_014033	NP_054752	Q9H8H3	MET7A_HUMAN	Homo sapiens methyltransferase like 7A (METTL7A), mRNA.	66						endoplasmic reticulum|lipid particle|membrane	methyltransferase activity	p.A66V(2)		endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)	10						CAGGAGTTTGCGGGCCCCTCC	0.552													T	51319018	C	T	51319018	3	4	194	1	0	0	0	0	1	0	0	0	9580	768	27	1	199	1	METTL7A	12	51319018	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	43667348	51319018	82532877	39	13461											
TRHDE	29953	broad.mit.edu	37	chr12	73056901	73056901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgagctgtggaaactgtcGaagccaatgtgcgctggaaa	12	7	13	9	3	0	0	0	0	0	0	1	4	0	2	1	2	4	2	1	2	4	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:73056901G>A	uc001sxa.3	+	18	3031	c.3001G>A	c.(3001-3003)Gaa>Aaa	p.E1001K		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	1001					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GGAAACTGTCGAAGCCAATGT	0.373													A	73056901	G	A	73056901	3	1	194	1	0	0	0	0	1	0	0	0	16580	1059	37	1	3075	1	TRHDE	12	73056901	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	21737883	73056901	60794994	40	13462											
NAP1L1	4673	broad.mit.edu	37	chr12	76447581	76447581	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataatttctggtccatcaaAagaaaagggatcagaatcat	17	10	7	7	0	4	2	3	0	1	2	5	3	5	3	1	2	0	0	1	2	6	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:76447581A>C	uc001sxw.2	-	8	1151	c.739T>G	c.(739-741)Ttt>Gtt	p.F247V	NAP1L1_uc001sxz.2_Missense_Mutation_p.F178V|NAP1L1_uc010stz.1_Missense_Mutation_p.F64V|NAP1L1_uc001sxx.2_Missense_Mutation_p.F247V|NAP1L1_uc010sty.1_Missense_Mutation_p.F204V|NAP1L1_uc010sua.1_Missense_Mutation_p.F247V|NAP1L1_uc001syb.3_Missense_Mutation_p.F247V	NM_139207	NP_631946	P55209	NP1L1_HUMAN	Homo sapiens nucleosome assembly protein 1-like 1 (NAP1L1), transcript variant 1, mRNA.	247					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				GGTCCATCAAAAGAAAAGGGA	0.333													C	76447581	A	C	76447581	3	2	194	1	0	0	0	0	1	0	0	0	10232	14	1	5	464	5	NAP1L1	12	76447581	Missense_Mutation	SNP	A	TCGA-27-2523-01A-01D-1494-08	3390680	76447581	57404314	41	13463											
CRY1	1407	broad.mit.edu	37	chr12	107393552	107393552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccttccattttatcaaagCgtggattatttgttgctgct	7	19	7	8	1	1	0	1	0	0	0	3	1	3	1	2	1	3	3	2	1	3	7			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr12:107393552C>T	uc001tmi.3	-	6	1773	c.914G>A	c.(913-915)cGc>cAc	p.R305H		NM_004075	NP_004066	Q16526	CRY1_HUMAN	Homo sapiens cryptochrome 1 (photolyase-like) (CRY1), mRNA.	305	FAD-binding.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TTTATCAAAGCGTGGATTATT	0.433													T	107393552	C	T	107393552	3	4	194	1	0	0	0	0	1	0	0	0	3934	768	27	1	870	1	CRY1	12	107393552	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	30945971	107393552	26458343	42	13464											
PCDH9	5101	broad.mit.edu	37	chr13	67802035	67802035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctgcccatttaacaattCataatgctgtacaccattga	13	13	4	11	0	2	1	1	1	1	0	2	1	2	1	2	0	4	2	2	0	4	6			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr13:67802035C>T	uc001vik.3	-	1	1230	c.538G>A	c.(538-540)Gaa>Aaa	p.E180K	PCDH9_uc001vil.3_Missense_Mutation_p.E180K|PCDH9_uc010thl.2_Missense_Mutation_p.E180K|PCDH9_uc001vin.3_Missense_Mutation_p.E180K	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	180	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTAACAATTCATAATGCTGT	0.423													T	67802035	C	T	67802035	3	4	194	1	0	0	0	0	1	0	0	0	11594	835	29	2	3191	2	PCDH9	13	67802035	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		67802035	47367843	43	13465											
FOXA1	3169	broad.mit.edu	37	chr14	38060635	38060635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgccggctccagggctgaggGctcgatggggctcctggtgg	3	7	19	12	3	0	1	0	1	0	0	3	2	2	1	3	7	0	4	3	7	0	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr14:38060635G>C	uc001wuf.3	-	1	1666	c.1354C>G	c.(1354-1356)Ccc>Gcc	p.P452A	FOXA1_uc010tpz.2_Missense_Mutation_p.P419A	NM_004496	NP_004487	P55317	FOXA1_HUMAN	Homo sapiens forkhead box A1 (FOXA1), mRNA.	452					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		AGGGCTGAGGGCTCGATGGGG	0.617													C	38060635	G	C	38060635	3	2	194	1	0	0	0	0	1	0	0	0	6038	1203	42	4	68	4	FOXA1	14	38060635	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		38060635	69288905	44	13466											
LPCAT4	254531	broad.mit.edu	37	chr15	34653631	34653631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaaaggcaccagccacCgtctgaggatcagagagctg	12	5	12	12	1	2	2	1	1	1	1	2	4	2	3	4	2	3	2	4	2	2	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:34653631C>T	uc001zig.3	-	10	1207	c.1113G>A	c.(1111-1113)acG>acA	p.T371T		NM_153613	NP_705841	Q643R3	LPCT4_HUMAN	Homo sapiens lysophosphatidylcholine acyltransferase 4 (LPCAT4), mRNA.	371					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CACCAGCCACCGTCTGAGGAT	0.587													T	34653631	C	T	34653631	2	4	194	1	0	0	0	0	0	0	0	1	8983	639	23	1		1	LPCAT4	15	34653631	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		34653631	67877761	45	13467											
ITGA11	22801	broad.mit.edu	37	chr15	68612685	68612685	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaggacagcgtgtatgcGgagcagtcctgcgcaggctt	8	8	15	10	4	0	0	0	0	0	0	2	3	1	2	1	3	4	4	1	3	2	2			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr15:68612685G>A	uc010bib.3	-	19	2541	c.2454C>T	c.(2452-2454)tcC>tcT	p.S818S	ITGA11_uc002ari.3_Silent_p.S818S	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	818					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GCGTGTATGCGGAGCAGTCCT	0.592													A	68612685	G	A	68612685	2	1	194	1	0	0	0	0	0	0	0	1	7932	1103	39	1		1	ITGA11	15	68612685	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08	33959054	68612685	33918707	46	13468											
SETD1A	9739	broad.mit.edu	37	chr16	30976386	30976386	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcctccagaacctggTggaggcgggggtggaggagg	7	4	21	9	2	0	1	0	0	0	1	1	5	1	5	4	9	2	0	4	9	1	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:30976386T>C	uc002ead.1	+	6	2009	c.1323T>C	c.(1321-1323)ggT>ggC	p.G441G		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	441	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CAGAACCTGGTGGAGGCGGGG	0.716													C	30976386	T	C	30976386	2	2	194	1	0	0	0	0	0	0	0	1	14223	1683	59	3		3	SETD1A	16	30976386	Silent	SNP	T	TCGA-27-2523-01A-01D-1494-08		30976386	59378367	47	13469											
PRSS36	146547	broad.mit.edu	37	chr16	31159857	31159857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagcagggccaggtcggCgcccagctccacttggctgt	5	6	15	15	3	0	0	0	0	0	0	2	0	1	0	3	4	2	4	3	4	0	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr16:31159857C>T	uc002ebd.3	-	4	471	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	PRSS36_uc010vff.2_5'UTR|PRSS36_uc010vfg.2_Missense_Mutation_p.A138T|PRSS36_uc010vfh.2_Missense_Mutation_p.A138T	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	138	Peptidase S1 1.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						GCCAGGTCGGCGCCCAGCTCC	0.756													T	31159857	C	T	31159857	3	4	194	1	0	0	0	0	1	0	0	0	12710	768	27	1	2199	1	PRSS36	16	31159857	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	183471	31159857	59194896	48	13470											
POLR2A	5430	broad.mit.edu	37	chr17	7399844	7399844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtctacgacctttgcaaggGcaaaaacatatgcgagggtg	12	9	12	8	2	1	0	0	0	1	0	1	2	1	0	1	2	4	2	1	2	5	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:7399844G>A	uc002ghf.4	+	3	835	c.449G>A	c.(448-450)gGc>gAc	p.G150D	POLR2A_uc002ghe.3_Missense_Mutation_p.G150D	NM_000937	NP_000928	P24928	RPB1_HUMAN	Homo sapiens polymerase (RNA) II (DNA directed) polypeptide A, 220kDa (POLR2A), mRNA.	150					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTTGCAAGGGCAAAAACATA	0.537													A	7399844	G	A	7399844	3	1	194	1	0	0	0	0	1	0	0	0	12291	1203	42	2	463	2	POLR2A	17	7399844	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08		7399844	73795366	49	13471											
KIAA0100	9703	broad.mit.edu	37	chr17	26967617	26967617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaataccacgcttgtgttcTccatcttaaccttgacctgg	9	13	6	13	1	2	1	0	1	2	0	3	1	2	1	4	1	2	2	4	1	3	5			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:26967617T>C	uc002hbu.3	-	7	954	c.851A>G	c.(850-852)gAg>gGg	p.E284G	KIAA0100_uc002hbv.3_Missense_Mutation_p.E284G|KIAA0100_uc010crr.2_Missense_Mutation_p.E141G	NM_014680	NP_055495	Q14667	K0100_HUMAN	Homo sapiens KIAA0100 (KIAA0100), mRNA.	284						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GCTTGTGTTCTCCATCTTAAC	0.463													C	26967617	T	C	26967617	3	2	194	1	0	0	0	0	1	0	0	0	8212	1551	54	3	5984	3	KIAA0100	17	26967617	Missense_Mutation	SNP	T	TCGA-27-2523-01A-01D-1494-08	19567773	26967617	54227593	50	13472											
TUBG1	7283	broad.mit.edu	37	chr17	40766544	40766544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgcagaggatccgggaaCgcaagttggccaacttcatc	10	8	12	11	2	1	1	1	0	0	1	3	3	2	3	2	3	3	4	2	3	3	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr17:40766544C>T	uc002ian.3	+	9	1425	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_001070	NP_001061	P23258	TBG1_HUMAN	Homo sapiens tubulin, gamma 1 (TUBG1), mRNA.	343					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		GATCCGGGAACGCAAGTTGGC	0.657													T	40766544	C	T	40766544	3	4	194	1	0	0	0	0	1	0	0	0	16866	536	19	1	1065	1	TUBG1	17	40766544	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	13798927	40766544	40428666	51	13473											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60021766	60021766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggcgcccagcacccGtgtacgggttggatgtgtgc	4	8	17	12	3	0	0	0	0	0	0	0	1	0	1	3	4	3	3	3	4	1	2	rs139968917		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr18:60021766G>A	uc002lin.3	+	4	465	c.427_splice	c.e4+1	p.L143_splice	TNFRSF11A_uc010dpv.3_Splice_Site_p.L143_splice	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	143					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCCAGCACCCGTGTACGGGTT	0.647													A	60021766	G	A	60021766	2	1	194	1	0	0	0	0	0	0	0	1	16384	1159	40	1		1	TNFRSF11A	18	60021766	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08		60021766	18055482	52	13474											
MUC16	94025	broad.mit.edu	37	chr19	8962003	8962003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaggagtcctgccaagccGatgaggatgacagcccagaa	12	4	12	13	1	0	3	0	2	0	1	1	6	1	5	5	2	3	0	5	2	2	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:8962003G>A	uc002mkp.3	-	82	43578	c.43374C>T	c.(43372-43374)atC>atT	p.I14458I	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Silent_p.I1258I|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13929	SEA 16.			Missing (in Ref. 3; AAK74120).	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						CTGCCAAGCCGATGAGGATGA	0.577													A	8962003	G	A	8962003	2	1	194	1	0	0	0	0	0	0	0	1	10049	1048	37	1		1	MUC16	19	8962003	Silent	SNP	G	TCGA-27-2523-01A-01D-1494-08		8962003	50166980	53	13475											
LPPR2	64748	broad.mit.edu	37	chr19	11472001	11472001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccgccccaactacaCggccctgggctgcctgccac	5	6	11	19	3	0	0	0	0	0	0	0	0	0	0	6	2	5	1	6	2	2	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:11472001C>T	uc002mrf.2	+	5	801	c.425C>T	c.(424-426)aCg>aTg	p.T142M	LPPR2_uc002mre.2_Missense_Mutation_p.T167M|LPPR2_uc010dxy.2_5'UTR	NM_001170635	NP_001164106	Q96GM1	LPPR2_HUMAN	Homo sapiens lipid phosphate phosphatase-related protein type 2 (LPPR2), transcript variant 2, mRNA.	167						integral to membrane	phosphatidate phosphatase activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	6						CCCAACTACACGGCCCTGGGC	0.682													T	11472001	C	T	11472001	3	4	194	1	0	0	0	0	1	0	0	0	8995	536	19	1	514	1	LPPR2	19	11472001	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	2509998	11472001	47656982	54	13476											
CYP4F8	11283	broad.mit.edu	37	chr19	15726591	15726591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgtttcccgcagccccGgaaacagaactggttcttgg	7	9	12	13	3	1	1	0	0	1	1	2	2	2	2	4	4	3	3	4	4	2	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:15726591G>A	uc002nbi.3	+	1	228	c.164G>A	c.(163-165)cGg>cAg	p.R55Q	CYP4F8_uc010xoi.1_Missense_Mutation_p.R55Q|CYP4F8_uc010xoj.2_Missense_Mutation_p.G17R	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	55					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCGCAGCCCCGGAAACAGAAC	0.642													A	15726591	G	A	15726591	3	1	194	1	0	0	0	0	1	0	0	0	4224	1116	39	1	166	1	CYP4F8	19	15726591	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	4254590	15726591	43402392	55	13477											
PIK3R2	5296	broad.mit.edu	37	chr19	18277106	18277106	+	Frame_Shift_Del	DEL	T	T	-																															tgagggcaacgagaaagagaTgcaaaggtgagtctggcgcc																										TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:18277106delT	uc002nia.1	+	11	2065	c.1553delT	c.(1552-1554)atgfs	p.M518fs	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	518					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GAGAAAGAGATGCAAAGGTGA	0.567													-	18277106	T	-	18277106	7	5	194	1	0	1	0	1	0	0	0	0	11996	1464	51	0	1595	0	PIK3R2	19	18277106	Frame_Shift_Del	DEL	T	TCGA-27-2523-01A-01D-1494-08	2550515	18277106	40851877	56	13478											
KIRREL2	84063	broad.mit.edu	37	chr19	36351843	36351843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcaaagccggagcccGtgtccgtggacgtgggggaa	8	5	18	10	4	0	0	0	0	0	0	1	3	1	3	3	5	3	2	3	5	2	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:36351843G>A	uc002ocb.4	+	7	1173	c.961G>A	c.(961-963)Gtg>Atg	p.V321M	KIRREL2_uc002obz.4_Missense_Mutation_p.V321M|KIRREL2_uc002oca.4_Missense_Mutation_p.V271M|KIRREL2_uc002ocd.4_Missense_Mutation_p.V318M	NM_199180	NP_954649	Q6UWL6	KIRR2_HUMAN	Homo sapiens kin of IRRE like 2 (Drosophila) (KIRREL2), transcript variant 3, mRNA.	321	Ig-like C2-type 4.				cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCCGGAGCCCGTGTCCGTGGA	0.672													A	36351843	G	A	36351843	3	1	194	1	0	0	0	0	1	0	0	0	8383	1145	40	1	991	1	KIRREL2	19	36351843	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	18074737	36351843	22777140	57	13479											
SLC17A7	57030	broad.mit.edu	37	chr19	49934369	49934369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgctggcgtagcgcGgggctatgtccaggtggttc	5	10	18	8	3	0	1	0	1	0	0	2	2	1	2	1	6	2	4	1	6	2	3	rs17855709		TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr19:49934369G>A	uc002pnp.3	-	10	1464	c.1292C>T	c.(1291-1293)cCg>cTg	p.P431L	SLC17A7_uc002pno.3_Missense_Mutation_p.P93L	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	431			P -> R (in dbSNP:rs17855709).		glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCGTAGCGCGGGGCTATGTC	0.607													A	49934369	G	A	49934369	3	1	194	1	0	0	0	0	1	0	0	0	14516	1116	39	1	398	1	SLC17A7	19	49934369	Missense_Mutation	SNP	G	TCGA-27-2523-01A-01D-1494-08	13582526	49934369	9194614	58	13480											
SULF2	55959	broad.mit.edu	37	chr20	46386007	46386007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcggtccctctgaaacCtgcctttcaggcggtggtgc	4	11	12	14	2	2	1	1	1	1	0	4	1	4	1	4	4	4	0	4	4	1	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:46386007C>T	uc002xto.3	-	1	431	c.101G>A	c.(100-102)aGg>aAg	p.R34K	SULF2_uc002xtr.3_Missense_Mutation_p.R34K|SULF2_uc002xtq.3_Missense_Mutation_p.R34K|SULF2_uc010ghv.1_Missense_Mutation_p.R34K	NM_018837	NP_061325	Q8IWU5	SULF2_HUMAN	Homo sapiens sulfatase 2 (SULF2), transcript variant 1, mRNA.	34					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						CCTCTGAAACCTGCCTTTCAG	0.647													T	46386007	C	T	46386007	3	4	194	1	0	0	0	0	1	0	0	0	15467	681	24	2	2591	2	SULF2	20	46386007	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		46386007	16639513	59	13481											
SLCO4A1	28231	broad.mit.edu	37	chr20	61291766	61291766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcctcttccacaggaCggagctgaccaccgagagcc	9	5	10	17	2	1	2	0	1	1	1	2	5	2	4	6	2	3	1	6	2	0	1			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr20:61291766C>T	uc002ydb.1	+	3	1095	c.890C>T	c.(889-891)aCg>aTg	p.T297M		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	297					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity	p.T297M(2)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTCCACAGGACGGAGCTGACC	0.687													T	61291766	C	T	61291766	3	4	194	1	0	0	0	0	1	0	0	0	14823	536	19	1	900	1	SLCO4A1	20	61291766	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08	14905759	61291766	1733754	60	13482											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000294	46000294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgggctcacaggcCgcctggcagcaggggctgga	6	4	19	12	1	1	0	1	0	0	0	1	1	1	1	2	8	1	5	2	8	0	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr21:46000294C>T	uc002zfl.1	-	0	188	c.162G>A	c.(160-162)gcG>gcA	p.A54A	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198694	NP_941967	P60370	KR105_HUMAN	Homo sapiens keratin associated protein 10-5 (KRTAP10-5), mRNA.	54	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCTCACAGGCCGCCTGGCAGC	0.716													T	46000294	C	T	46000294	2	4	194	1	0	0	0	0	0	0	0	1	8570	639	23	1		1	KRTAP10-5	21	46000294	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		46000294	2129601	61	13483											
C1QTNF6	114904	broad.mit.edu	37	chr22	37581311	37581311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggcagggcgtgggggCggccggaggaagaggctgag	7	4	22	8	3	1	2	1	1	1	1	2	4	1	4	1	8	0	2	1	8	1	0			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chr22:37581311C>T	uc003aqx.1	-	1	499	c.236G>A	c.(235-237)cGc>cAc	p.R79H	C1QTNF6_uc003aqw.1_Missense_Mutation_p.R60H|C1QTNF6_uc003aqy.1_Missense_Mutation_p.R79H|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	60	Collagen-like.					collagen		p.G78C(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						GGCGTGGGGGCGGCCGGAGGA	0.632													T	37581311	C	T	37581311	3	4	194	1	0	0	0	0	1	0	0	0	1987	768	27	1	608	1	C1QTNF6	22	37581311	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		37581311	13723255	62	13484											
GABRQ	55879	broad.mit.edu	37	chrX	151820044	151820044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacatctgcgggataagctCcccaacatttcctgtatcaa	11	11	6	13	1	3	0	2	0	1	0	5	1	5	1	3	1	3	2	3	1	4	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrX:151820044C>T	uc004ffp.1	+	7	977	c.957C>T	c.(955-957)ctC>ctT	p.L319L		NM_018558	NP_061028	Q9UN88	GBRT_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) receptor, theta (GABRQ), mRNA.	319						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATAAGCTCCCCAACATTT	0.448													T	151820044	C	T	151820044	2	4	194	1	0	0	0	0	0	0	0	1	6227	842	30	2		2	GABRQ	23	151820044	Silent	SNP	C	TCGA-27-2523-01A-01D-1494-08		151820044	3450516	63	13485											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605715	5605715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgcaatcagccacagctCttctctgccacaggttattg	8	12	8	13	0	3	0	1	0	2	0	4	0	3	0	2	1	5	4	2	1	2	3			TCGA-27-2523-01A-01D-1494-08	TCGA-27-2523-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d60f54f5-b154-42c4-99fb-cea4e7a33dc7	28ea912e-e998-458c-879e-38d55938a2fb	g.chrY:5605715C>T	uc004fqo.3	+	4	4489	c.3755C>T	c.(3754-3756)tCt>tTt	p.S1252F	PCDH11Y_uc022ciy.1_Non-coding_Transcript	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	1252					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGCCACAGCTCTTCTCTGCCA	0.552													T	5605715	C	T	5605715	3	4	194	1	0	0	0	0	1	0	0	0	11585	913	32	2	3831	2	PCDH11Y	24	5605715	Missense_Mutation	SNP	C	TCGA-27-2523-01A-01D-1494-08		5605715	53767851	64	13486											
TAS1R1	80835	broad.mit.edu	37	chr1	6639227	6639227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggtggtgtggaccccActgcctgctagggaatacca	7	9	14	11	0	0	0	0	0	0	0	0	2	0	2	4	5	3	2	4	5	3	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:6639227A>G	uc001ant.3	+	5	2205	c.2109A>G	c.(2107-2109)ccA>ccG	p.P703P	TAS1R1_uc001anu.3_Silent_p.P449P|TAS1R1_uc021ofp.1_3'UTR|ZBTB48_uc009vmc.2_5'Flank|ZBTB48_uc001anx.3_5'Flank|ZBTB48_uc009vmd.2_5'Flank	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	703					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGTGGACCCCACTGCCTGCTA	0.577													G	6639227	A	G	6639227	2	3	195	1	0	0	0	0	0	0	0	1	15659	146	6	3		3	TAS1R1	1	6639227	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08		6639227	242611394	1	13487											
PABPC4	8761	broad.mit.edu	37	chr1	40029374	40029374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagcagcagcagcaacaGcagcgcgtggcgctaagttc	10	4	16	11	3	0	0	0	0	0	0	1	1	0	1	0	3	7	7	0	3	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:40029374G>A	uc001cdl.2	-	11	2478	c.1580C>T	c.(1579-1581)gCt>gTt	p.A527V	PABPC4_uc010oiv.1_Missense_Mutation_p.A511V|PABPC4_uc001cdm.2_Missense_Mutation_p.A498V	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	511					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCAGCAACAGCAGCGCGTGG	0.572													A	40029374	G	A	40029374	3	1	195	1	0	0	0	0	1	0	0	0	11442	971	34	2	418	2	PABPC4	1	40029374	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	33390147	40029374	209221247	2	13488											
WDR47	22911	broad.mit.edu	37	chr1	109553699	109553699	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttatcatgactggttagTccacaggtgaggccatctaa	10	12	9	10	0	3	2	1	2	2	0	4	2	4	2	2	3	0	1	2	3	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:109553699T>A	uc001dwl.3	-	4	1366	c.990A>T	c.(988-990)ggA>ggT	p.G330G	WDR47_uc001dwi.3_Silent_p.G323G|WDR47_uc001dwj.3_Silent_p.G323G|WDR47_uc001dwk.2_Silent_p.G295G|WDR47_uc010ovf.2_Silent_p.G250G	NM_001142550	NP_001136022	O94967	WDR47_HUMAN	Homo sapiens WD repeat domain 47 (WDR47), transcript variant 1, mRNA.	323										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		GACTGGTTAGTCCACAGGTGA	0.448													A	109553699	T	A	109553699	2	1	195	1	0	0	0	0	0	0	0	1	17402	1654	58	5		5	WDR47	1	109553699	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	69524325	109553699	139696922	3	13489											
RPTN	126638	broad.mit.edu	37	chr1	152127651	152127651	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtggccgttctgctGtgagtccctagactggaatc	6	12	12	11	1	1	2	0	1	1	1	3	3	2	3	3	3	2	2	3	3	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:152127651G>A	uc001ezs.1	-	2	1989	c.1924C>T	c.(1924-1926)Cag>Tag	p.Q642*		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	642	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCGTTCTGCTGTGAGTCCCTA	0.483													A	152127651	G	A	152127651	4	1	195	1	0	0	0	0	0	1	0	0	13755	1386	48	2	434	2	RPTN	1	152127651	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	42573952	152127651	97122970	4	13490											
PLXNA2	5362	broad.mit.edu	37	chr1	208205103	208205103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccacaaacttctgcagggtgCcctggaggaggggtggggga	8	6	18	9	0	1	0	0	0	1	0	1	3	1	3	2	7	3	1	2	7	1	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr1:208205103C>T	uc001hgz.3	-	29	5814	c.5056_splice	c.e29-1	p.G1686_splice	PLXNA2_uc001hgy.3_5'Flank	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	1686					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTGCAGGGTGCCCTGGAGGAG	0.572													T	208205103	C	T	208205103	3	4	195	1	0	0	0	0	1	0	0	0	12197	753	26	2	643	2	PLXNA2	1	208205103	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	56077452	208205103	41045518	5	13491											
ADD2	119	broad.mit.edu	37	chr2	70890611	70890611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttcaggaaggagggggttcgGaatttctttttcttctttga	7	17	12	5	1	4	1	1	1	3	0	5	4	4	4	0	5	0	1	0	5	2	7			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:70890611G>C	uc021vjc.1	-	15	2392	c.2127C>G	c.(2125-2127)ttC>ttG	p.F709L	ADD2_uc010fds.2_Non-coding_Transcript|ADD2_uc002sgy.3_3'UTR|ADD2_uc002sgz.3_Missense_Mutation_p.F709L	NM_001185054	NP_001608	P35612	ADDB_HUMAN	Homo sapiens adducin 2 (beta) (ADD2), transcript variant 5, mRNA.	709	Interaction with calmodulin (Potential).				actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						AGGGGGTTCGGAATTTCTTTT	0.527													C	70890611	G	C	70890611	3	2	195	1	0	0	0	0	1	0	0	0	305	1165	41	4	57	4	ADD2	2	70890611	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		70890611	172308762	6	13492											
CLASP1	23332	broad.mit.edu	37	chr2	122216417	122216417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctataacatacttaccCgaataattaacctaacagct	15	11	4	11	1	0	0	0	0	0	0	0	1	0	0	3	1	6	1	3	1	8	7			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:122216417C>T	uc002tnc.3	-	13	1704	c.1314_splice	c.e13+1	p.R438_splice	CLASP1_uc002tna.3_5'Flank|CLASP1_uc010yyw.2_Splice_Site|CLASP1_uc002tnb.3_Splice_Site|CLASP1_uc010yyx.2_Splice_Site|CLASP1_uc010yyy.2_Splice_Site|CLASP1_uc010yyz.2_Splice_Site_p.R438_splice|CLASP1_uc010yza.2_Splice_Site_p.R438_splice|CLASP1_uc021vnl.1_Splice_Site_p.R438_splice|CLASP1_uc010yzc.2_Splice_Site|CLASP1_uc002tng.1_Splice_Site_p.R438_splice	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	438					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CATACTTACCCGAATAATTAA	0.338													T	122216417	C	T	122216417	3	4	195	1	0	0	0	0	1	0	0	0	3485	666	23	1	3467	1	CLASP1	2	122216417	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	51325806	122216417	120982956	7	13493											
MBD5	55777	broad.mit.edu	37	chr2	149220206	149220206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaacatacctgcttactGatggaacatgcaagtgtggc	13	11	9	8	0	0	1	0	1	0	0	0	2	0	2	1	2	6	2	1	2	6	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:149220206G>A	uc002twm.4	+	6	1166	c.169G>A	c.(169-171)Gat>Aat	p.D57N	MBD5_uc010zbs.2_Non-coding_Transcript	NM_018328	NP_060798	Q9P267	MBD5_HUMAN	Homo sapiens methyl-CpG binding domain protein 5 (MBD5), mRNA.	57	MBD.					chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CCTGCTTACTGATGGAACATG	0.353													A	149220206	G	A	149220206	3	1	195	1	0	0	0	0	1	0	0	0	9422	1290	45	2	175	2	MBD5	2	149220206	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	27003789	149220206	93979167	8	13494											
PMS1	5378	broad.mit.edu	37	chr2	190660525	190660525	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttgataaaattgaggtgCgagataacggggagggtatc	13	10	15	3	2	0	3	0	2	0	1	1	6	0	4	0	4	2	1	0	4	4	5			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:190660525C>T	uc002urh.4	+	2	692	c.163C>T	c.(163-165)Cga>Tga	p.R55*	PMS1_uc010zga.1_Nonsense_Mutation_p.R55*|PMS1_uc010zgb.1_Intron|PMS1_uc002urk.4_Nonsense_Mutation_p.R55*|PMS1_uc002uri.4_Nonsense_Mutation_p.R55*|PMS1_uc010zgc.2_5'UTR|PMS1_uc010zgd.2_Intron|PMS1_uc002urj.3_Non-coding_Transcript|PMS1_uc010fry.1_Nonsense_Mutation_p.R55*|PMS1_uc010frz.3_Nonsense_Mutation_p.R55*|PMS1_uc010zfz.1_Nonsense_Mutation_p.R55*	NM_000534	NP_000525	P54277	PMS1_HUMAN	Homo sapiens PMS1 postmeiotic segregation increased 1 (S. cerevisiae) (PMS1), transcript variant 1, mRNA.	55					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATTGAGGTGCGAGATAACGG	0.323			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					T	190660525	C	T	190660525	4	4	195	1	0	0	0	0	0	1	0	0	12219	760	27	1	169	1	PMS1	2	190660525	Nonsense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	41440319	190660525	52538848	9	13495											
DYTN	391475	broad.mit.edu	37	chr2	207530695	207530695	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaaattctttcttcctGggaggtgtatatagcttgca	9	15	9	8	1	2	0	0	0	2	0	4	2	3	1	1	2	2	3	1	2	4	7			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:207530695G>A	uc002vbr.1	-	9	1156	c.1039C>T	c.(1039-1041)Cag>Tag	p.Q347*		NM_001093730	NP_001087199	A2CJ06	DYTN_HUMAN	Homo sapiens dystrotelin (DYTN), mRNA.	347						plasma membrane	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(24)|ovary(1)|upper_aerodigestive_tract(1)	36				LUSC - Lung squamous cell carcinoma(261;0.082)|Epithelial(149;0.129)|Lung(261;0.153)		CTTTCTTCCTGGGAGGTGTAT	0.408													A	207530695	G	A	207530695	4	1	195	1	0	0	0	0	0	1	0	0	4900	1357	47	2	709	2	DYTN	2	207530695	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	16870170	207530695	35668678	10	13496											
WNT10A	80326	broad.mit.edu	37	chr2	219745829	219745829	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctgctgccatgcccAggtgagccctcacctcatgc	5	9	11	16	0	2	1	2	1	0	0	2	1	2	1	4	2	6	3	4	2	0	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:219745829A>T	uc002vjd.1	+	1	576	c.113_splice	c.e1+1	p.R38_splice		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	38					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCCATGCCCAGGTGAGCCCT	0.687													T	219745829	A	T	219745829	3	4	195	1	0	0	0	0	1	0	0	0	17484	202	7	5	114	5	WNT10A	2	219745829	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	12215134	219745829	23453544	11	13497											
KCNJ13	3769	broad.mit.edu	37	chr2	233632952	233632952	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtcaatgctttgtccAttgatgtggatatccaggtc	10	15	9	7	0	1	1	1	1	0	0	4	2	3	2	2	2	1	1	2	2	3	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr2:233632952A>G	uc002vto.3	-	1	1075	c.1032T>C	c.(1030-1032)aaT>aaC	p.N344N	GIGYF2_uc010zmj.1_Intron|GIGYF2_uc002vtg.2_Intron|GIGYF2_uc002vtj.4_Intron|GIGYF2_uc002vti.4_Intron|GIGYF2_uc002vtk.4_Intron|GIGYF2_uc002vth.4_Intron|GIGYF2_uc010zmk.2_Intron|GIGYF2_uc010zml.1_Intron|KCNJ13_uc002vtn.3_3'UTR|KCNJ13_uc002vtp.3_Silent_p.N344N|KCNJ13_uc021vyk.1_Silent_p.N264N	NM_001172417	NP_001165888	O60928	IRK13_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 13 (KCNJ13), transcript variant 3, mRNA.	344						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGCTTTGTCCATTGATGTGGA	0.383													G	233632952	A	G	233632952	2	3	195	1	0	0	0	0	0	0	0	1	8105	214	8	3		3	KCNJ13	2	233632952	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08	13887123	233632952	9566421	12	13498											
CAND2	23066	broad.mit.edu	37	chr3	12856711	12856711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcagctgccaagtgcatcGcagccttgatcagctcgcgg	7	7	14	13	3	1	1	1	1	0	0	3	1	1	1	2	2	5	5	2	2	1	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr3:12856711G>T	uc003bxk.2	+	7	1127	c.1078G>T	c.(1078-1080)Gca>Tca	p.A360S	CAND2_uc003bxj.2_Missense_Mutation_p.A267S	NM_001162499	NP_001155971	O75155	CAND2_HUMAN	Homo sapiens cullin-associated and neddylation-dissociated 2 (putative) (CAND2), transcript variant 1, mRNA.	360					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CAAGTGCATCGCAGCCTTGAT	0.597													T	12856711	G	T	12856711	3	4	195	1	0	0	0	0	1	0	0	0	2642	1087	38	4	1108	4	CAND2	3	12856711	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		12856711	185165719	13	13499											
SLC7A11	23657	broad.mit.edu	37	chr4	139100426	139100426	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catataataaagagataataCgcagggactccagtcagagt	17	8	9	7	1	1	2	1	0	0	2	2	4	2	3	1	1	1	1	1	1	6	5	rs145453312	by1000genomes	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr4:139100426C>A	uc021xrw.1	-	10	1669	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A		NM_014331	NP_055146	Q9UPY5	XCT_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11 (SLC7A11), mRNA.	463					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	AGAGATAATACGCAGGGACTC	0.423													A	139100426	C	A	139100426	2	1	195	1	0	0	0	0	0	0	0	1	14788	523	19	4		4	SLC7A11	4	139100426	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08		139100426	52053850	14	13500											
CARD6	84674	broad.mit.edu	37	chr5	40843343	40843343	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctcctggaataaaacagCctgaagcccctgagatcaca	13	9	7	12	0	2	2	1	2	1	1	3	4	2	3	4	1	3	0	4	1	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:40843343C>A	uc003jmg.3	+	1	448	c.373C>A	c.(373-375)Cct>Act	p.P125T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	125					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AATAAAACAGCCTGAAGCCCC	0.403													A	40843343	C	A	40843343	3	1	195	1	0	0	0	0	1	0	0	0	2676	739	26	4	379	4	CARD6	5	40843343	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		40843343	140071917	15	13501											
HARS	3035	broad.mit.edu	37	chr5	140056309	140056309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccacacatggcaccttgCgccctttggggtcgaacatg	7	8	11	15	2	0	0	0	0	0	0	1	1	0	0	4	3	2	1	4	3	1	2	rs151258227		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140056309C>T	uc003lgv.3	-	9	1206	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	HARS_uc003lgu.3_Missense_Mutation_p.R306H|HARS_uc011czm.2_Missense_Mutation_p.R335H|HARS_uc003lgw.3_Missense_Mutation_p.R355H|HARS_uc011czn.2_Missense_Mutation_p.R315H|HARS_uc011czo.2_Missense_Mutation_p.R301H|HARS_uc011czp.2_Missense_Mutation_p.R261H|HARS_uc011czq.2_Missense_Mutation_p.R265H	NM_002109	NP_002100	P12081	SYHC_HUMAN	Homo sapiens histidyl-tRNA synthetase (HARS), mRNA.	375					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	TGGCACCTTGCGCCCTTTGGG	0.597													T	140056309	C	T	140056309	3	4	195	1	0	0	0	0	1	0	0	0	7014	768	27	1	421	1	HARS	5	140056309	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	99212966	140056309	40858951	16	13502											
PCDHB13	56123	broad.mit.edu	37	chr5	140594357	140594357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactggatggtggctctcCgcccagatctggcactgctc	6	9	12	14	1	2	1	0	0	2	1	4	2	2	2	2	4	2	4	2	4	0	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr5:140594357C>T	uc003lja.1	+	0	849	c.662C>T	c.(661-663)cCg>cTg	p.P221L		NM_018933	NP_061756	Q9Y5F0	PCDBD_HUMAN	Homo sapiens protocadherin beta 13 (PCDHB13), mRNA.	221	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.P221L(2)		NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGGCTCTCCGCCCAGATCT	0.532													T	140594357	C	T	140594357	3	4	195	1	0	0	0	0	1	0	0	0	11614	652	23	1	664	1	PCDHB13	5	140594357	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	538048	140594357	40320903	17	13503											
RREB1	6239	broad.mit.edu	37	chr6	7229251	7229251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgcgaaacaaacctgCggaggtgcatcagcgagcaa	12	5	13	11	3	1	0	1	0	0	0	1	3	1	1	2	3	7	2	2	3	3	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:7229251C>T	uc003mxb.3	+	9	1411	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W	RREB1_uc021yky.1_Missense_Mutation_p.R307W|RREB1_uc003mxc.3_Missense_Mutation_p.R307W|RREB1_uc010jnx.3_Missense_Mutation_p.R307W|RREB1_uc021ykz.1_Missense_Mutation_p.R307W|RREB1_uc021yla.1_Intron	NM_001003699	NP_001003699	Q92766	RREB1_HUMAN	Homo sapiens ras responsive element binding protein 1 (RREB1), transcript variant 1, mRNA.	307					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AACAAACCTGCGGAGGTGCAT	0.507													T	7229251	C	T	7229251	3	4	195	1	0	0	0	0	1	0	0	0	13770	759	27	1	945	1	RREB1	6	7229251	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		7229251	163885816	18	13504											
TDP2	51567	broad.mit.edu	37	chr6	24658115	24658115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacttcctgtagaaataTcacatctgggctgtacctaa	14	12	6	9	0	2	1	1	0	1	1	3	1	3	1	2	1	2	3	2	1	7	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:24658115T>C	uc003nej.3	-	3	467	c.442A>G	c.(442-444)Ata>Gta	p.I148V	TDP2_uc010jpu.1_Missense_Mutation_p.I148V	NM_016614	NP_057698	O95551	TYDP2_HUMAN	Homo sapiens tyrosyl-DNA phosphodiesterase 2 (TDP2), mRNA.	148					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						TGTAGAAATATCACATCTGGG	0.313								Direct reversal of damage					C	24658115	T	C	24658115	3	2	195	1	0	0	0	0	1	0	0	0	15829	1435	50	3	662	3	TDP2	6	24658115	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	17428864	24658115	146456952	19	13505											
MDC1	9656	broad.mit.edu	37	chr6	30671570	30671570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagctccggggtgaacctaGatctacctgctggttccacc	7	9	12	13	1	1	2	0	1	1	1	3	3	3	3	5	4	4	3	5	4	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:30671570G>A	uc003nrg.4	-	9	5830	c.5390C>T	c.(5389-5391)tCt>tTt	p.S1797F	MDC1_uc003nrf.4_Missense_Mutation_p.S428F|MDC1_uc011dmp.1_Missense_Mutation_p.S1404F	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1797	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GGTGAACCTAGATCTACCTGC	0.537								Other conserved DNA damage response genes					A	30671570	G	A	30671570	3	1	195	1	0	0	0	0	1	0	0	0	9478	942	33	2	903	2	MDC1	6	30671570	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	6013455	30671570	140443497	20	13506											
DST	667	broad.mit.edu	37	chr6	56566691	56566691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaacatcatacctggcGtcttttcaaatagtcaagtg	13	13	6	9	1	5	0	4	0	1	0	5	0	5	0	1	1	2	0	1	1	6	5			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr6:56566691G>A	uc021zay.1	-	4	562	c.436C>T	c.(436-438)Cgc>Tgc	p.R146C	DST_uc011dxl.1_Missense_Mutation_p.R135C|DST_uc021zaz.1_Missense_Mutation_p.R106C	NM_001723	NP_001714	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1e, mRNA.	106	Actin-binding.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity	p.E146K(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CATACCTGGCGTCTTTTCAAA	0.343													A	56566691	G	A	56566691	3	1	195	1	0	0	0	0	1	0	0	0	4822	1160	40	1		1	DST	6	56566691	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	25895121	56566691	114548376	21	13507											
PMS2	5395	broad.mit.edu	37	chr7	6026906	6026906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaatccacggaagtgctgCcgtgccccgagtccttctcc	7	8	10	16	3	1	1	0	0	1	1	4	3	3	2	6	1	3	1	6	1	2	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:6026906C>T	uc003spl.3	-	10	1577	c.1490G>A	c.(1489-1491)gGc>gAc	p.G497D	PMS2_uc003spj.3_Missense_Mutation_p.G391D|PMS2_uc003spk.3_Missense_Mutation_p.G362D|PMS2_uc011jwl.2_Missense_Mutation_p.G362D|PMS2_uc010ktg.3_Missense_Mutation_p.G186D|PMS2_uc010kte.3_Intron|PMS2_uc010ktf.2_Missense_Mutation_p.G497D	NM_000535	NP_000526	P54278	PMS2_HUMAN	Homo sapiens PMS2 postmeiotic segregation increased 2 (S. cerevisiae) (PMS2), transcript variant 1, mRNA.	497					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GGAAGTGCTGCCGTGCCCCGA	0.632			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				T	6026906	C	T	6026906	3	4	195	1	0	0	0	0	1	0	0	0	12220	739	26	2	1118	2	PMS2	7	6026906	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		6026906	153111757	22	13508											
ARPP21	445347	broad.mit.edu	37	chr7	38305013	38305013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattattctcatgtctgaCgatacatctgtgttctttgt	7	21	6	7	1	4	1	1	1	4	0	5	2	4	1	0	0	1	1	0	0	3	7			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:38305013C>T	uc003tge.1	-	4	1071	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	ARPP21_uc022aby.1_Missense_Mutation_p.V28I|ARPP21_uc003tfv.3_Intron|ARPP21_uc022abz.1_Intron|ARPP21_uc003tfz.1_Intron|ARPP21_uc003tgb.2_Missense_Mutation_p.V28I|ARPP21_uc003tgc.1_Missense_Mutation_p.V28I|ARPP21_uc003tgd.1_Missense_Mutation_p.V28I|ARPP21_uc010kxi.1_Non-coding_Transcript|ARPP21_uc003tgf.1_Non-coding_Transcript|ARPP21_uc003tgj.1_Non-coding_Transcript|ARPP21_uc003tgg.1_Non-coding_Transcript|ARPP21_uc003tgh.1_Non-coding_Transcript|ARPP21_uc003tgi.1_Non-coding_Transcript			Q9UBL0	ARP21_HUMAN	Homo sapiens TCR gamma alternate reading frame protein (TARP), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						TCATGTCTGACGATACATCTG	0.393													T	38305013	C	T	38305013	3	4	195	1	0	0	0	0	1	0	0	0	983	536	19	1		1	ARPP21	7	38305013	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	32278107	38305013	120833650	23	13509											
PCLO	27445	broad.mit.edu	37	chr7	82584287	82584287	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatctgttctgaaagTcttatcttttgctctcttcc	8	19	4	10	0	6	1	1	1	5	0	8	1	7	1	1	0	1	2	1	0	4	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:82584287T>C	uc003uhx.2	-	4	6271	c.5982A>G	c.(5980-5982)agA>agG	p.R1994R	PCLO_uc003uhv.2_Silent_p.R1994R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1925					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GTTCTGAAAGTCTTATCTTTT	0.388													C	82584287	T	C	82584287	2	2	195	1	0	0	0	0	0	0	0	1	11659	1664	58	3		3	PCLO	7	82584287	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	44279274	82584287	76554376	24	13510											
TRRAP	8295	broad.mit.edu	37	chr7	98509724	98509724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaatatctccttgatcGcctgccagaaatgggctcca	9	10	11	11	1	1	2	0	1	1	1	4	3	2	3	4	3	1	1	4	3	3	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:98509724G>A	uc003upp.3	+	17	2296	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	TRRAP_uc011kis.2_Missense_Mutation_p.R696H|TRRAP_uc003upr.3_Missense_Mutation_p.R388H	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	696					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTTGATCGCCTGCCAGAA	0.468													A	98509724	G	A	98509724	3	1	195	1	0	0	0	0	1	0	0	0	16702	1087	38	1	2153	1	TRRAP	7	98509724	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	15925437	98509724	60628939	25	13511											
PLOD3	8985	broad.mit.edu	37	chr7	100852149	100852149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctcatgccggccgccTgaccactggccgtagtgctc	5	9	10	17	3	1	1	1	1	0	0	2	1	1	1	6	2	3	2	6	2	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:100852149T>C	uc003uyd.3	-	15	2229	c.1773A>G	c.(1771-1773)tcA>tcG	p.S591S		NM_001084	NP_001075	O60568	PLOD3_HUMAN	Homo sapiens procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3 (PLOD3), mRNA.	591					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	GCCGGCCGCCTGACCACTGGC	0.582													C	100852149	T	C	100852149	2	2	195	1	0	0	0	0	0	0	0	1	12180	1567	55	3		3	PLOD3	7	100852149	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	2342425	100852149	58286514	26	13512											
KIAA1549	57670	broad.mit.edu	37	chr7	138603251	138603251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttagatgaaacatcagttGgtgaagcagaggacgcaaat	15	8	13	5	1	1	4	1	2	0	2	1	5	1	5	0	3	2	4	0	3	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:138603251G>A	uc011kql.2	-	1	1170	c.1121C>T	c.(1120-1122)cCa>cTa	p.P374L	KIAA1549_uc011kqj.2_Missense_Mutation_p.P374L	NM_001164665	NP_001158137	Q9HCM3	K1549_HUMAN	Homo sapiens KIAA1549 (KIAA1549), transcript variant 2, mRNA.	374						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AACATCAGTTGGTGAAGCAGA	0.507			O	BRAF	pilocytic astrocytoma								A	138603251	G	A	138603251	3	1	195	1	0	0	0	0	1	0	0	0	8302	1348	47	2	4807	2	KIAA1549	7	138603251	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	37751102	138603251	20535412	27	13513											
TRPV5	56302	broad.mit.edu	37	chr7	142609825	142609825	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcatcaataacagtgagAaaaagctcaaaggtggtgaa	17	7	12	5	0	2	2	2	2	0	1	2	3	2	2	0	3	3	2	0	3	6	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr7:142609825A>G	uc003wby.1	-	12	1875	c.1611T>C	c.(1609-1611)ttT>ttC	p.F537F		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	537					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAACAGTGAGAAAAAGCTCAA	0.502													G	142609825	A	G	142609825	2	3	195	1	0	0	0	0	0	0	0	1	16700	243	9	3		3	TRPV5	7	142609825	Silent	SNP	A	TCGA-27-2524-01A-01D-1494-08	4006574	142609825	16528838	28	13514											
ECM2	1842	broad.mit.edu	37	chr9	95263237	95263237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagccagggatccgttcaAtctggttcccaaggagtact	10	10	10	11	1	2	0	1	0	1	0	4	2	4	2	3	3	2	3	3	3	4	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr9:95263237A>G	uc011lty.2	-	8	1890	c.1703T>C	c.(1702-1704)aTt>aCt	p.I568T	CENPP_uc004arz.3_Intron|CENPP_uc010mqx.3_Intron|ECM2_uc004asf.4_Missense_Mutation_p.I546T|ECM2_uc004asg.3_Missense_Mutation_p.I546T|ECM2_uc010mqz.2_5'UTR	NM_001393	NP_001384	O94769	ECM2_HUMAN	Homo sapiens extracellular matrix protein 2, female organ and adipocyte specific (ECM2), transcript variant 1, mRNA.	568					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GATCCGTTCAATCTGGTTCCC	0.478													G	95263237	A	G	95263237	3	3	195	1	0	0	0	0	1	0	0	0	4937	101	4	3	404	3	ECM2	9	95263237	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08		95263237	45950194	29	13515											
KIAA1217	56243	broad.mit.edu	37	chr10	24832950	24832950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaagaagcaactcgccgCtctcactcaagccattcgca	11	7	6	17	3	2	1	2	0	1	1	5	1	2	1	3	0	3	3	3	0	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:24832950C>A	uc001iru.4	+	18	5154	c.4751C>A	c.(4750-4752)gCt>gAt	p.A1584D	KIAA1217_uc001irs.3_Intron|KIAA1217_uc001irt.4_Intron|KIAA1217_uc010qcy.2_Intron|KIAA1217_uc010qcz.2_Intron|KIAA1217_uc001irw.3_Intron|KIAA1217_uc001irz.3_Intron|KIAA1217_uc001irx.3_Missense_Mutation_p.A1267D|KIAA1217_uc001iry.3_Intron|KIAA1217_uc001isa.1_Missense_Mutation_p.A420D	NM_019590	NP_062536	Q5T5P2	SKT_HUMAN	Homo sapiens KIAA1217 (KIAA1217), transcript variant 1, mRNA.	1584					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CAACTCGCCGCTCTCACTCAA	0.473													A	24832950	C	A	24832950	3	1	195	1	0	0	0	0	1	0	0	0	8274	797	28	4	4825	4	KIAA1217	10	24832950	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		24832950	110701797	30	13516											
AGAP7	653268	broad.mit.edu	37	chr10	51464835	51464835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggaacggatccaccgttCcttctcttccctcgtggact	5	14	8	14	3	1	0	0	0	1	0	6	3	4	3	4	3	1	1	4	3	1	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:51464835C>T	uc001jio.3	-	6	1747	c.1621G>A	c.(1621-1623)Gaa>Aaa	p.E541K	PARG_uc001jih.3_Intron|TIMM23_uc010qha.2_Intron|TIMM23_uc001jin.3_Intron|TIMM23_uc010qhb.2_Intron|TIMM23_uc010qhc.2_Intron|DQ588224_uc021pqk.1_5'Flank	NM_001077685	NP_001071153	Q5VUJ5	AGAP7_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 7 (AGAP7), mRNA.	541	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						ATCCACCGTTCCTTCTCTTCC	0.572													T	51464835	C	T	51464835	3	4	195	1	0	0	0	0	1	0	0	0	373	864	30	2	374	2	AGAP7	10	51464835	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	26631885	51464835	84069912	31	13517											
PTEN	5728	broad.mit.edu	37	chr10	89692904	89692904	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaagctggaaagggaCgaactggtgtaatgatatgt	14	10	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr10:89692904C>T	uc001kfb.3	+	4	1420	c.388C>T	c.(388-390)Cga>Tga	p.R130*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130G(212)|p.R130*(135)|p.R130Q(68)|p.0?(37)|p.R130fs*4(16)|p.R130L(13)|p.K128_R130del(8)|p.R130P(7)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.R130R(2)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.Y27fs*1(2)|p.G129fs*50(2)|p.G129fs*51(2)|p.K128fs*47(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.R130fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGGAAAGGGACGAACTGGTGT	0.403	R130G(KMBC2_URINARY_TRACT)|R130G(OV56_OVARY)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692904	C	T	89692904	4	4	195	1	0	0	0	0	0	1	0	0	12823	528	19	1	406	1	PTEN	10	89692904	Nonsense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	38228069	89692904	45841843	32	13518											
OR51B2	79345	broad.mit.edu	37	chr11	5344773	5344773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtcaaacccatcactGtaacatagaagataagaaca	19	8	6	8	0	2	4	2	1	0	3	2	4	2	4	1	0	3	1	1	0	7	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5344773G>A	uc001mao.1	-	0	810	c.755C>T	c.(754-756)aCa>aTa	p.T252I	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron	NM_033180	NP_149420	Q9Y5P1	O51B2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily B, member 2 (OR51B2), mRNA.	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCATCACTGTAACATAGAA	0.393													A	5344773	G	A	5344773	3	1	195	1	0	0	0	0	1	0	0	0	11165	1377	48	2	187	2	OR51B2	11	5344773	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		5344773	129661743	33	13519											
OR52D1	390066	broad.mit.edu	37	chr11	5510785	5510785	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacatctttctggctaatctCtatgtgctggtgcctcctgt	5	16	8	12	0	3	0	0	0	3	0	5	0	4	0	2	2	2	2	2	2	2	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:5510785C>G	uc010qzg.2	+	0	871	c.849C>G	c.(847-849)ctC>ctG	p.L283L	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001005163	NP_001005163	Q9H346	O52D1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily D, member 1 (OR52D1), mRNA.	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGCTAATCTCTATGTGCTGG	0.493													G	5510785	C	G	5510785	2	3	195	1	0	0	0	0	0	0	0	1	11190	900	32	4		4	OR52D1	11	5510785	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08	166012	5510785	129495731	34	13520											
SLC17A6	57084	broad.mit.edu	37	chr11	22363249	22363249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatctccttcggtatcCgctgcaacctgggcgtggcc	4	11	11	15	3	2	0	0	0	2	0	5	0	3	0	4	3	3	4	4	3	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:22363249C>A	uc001mqk.3	+	1	675	c.262C>A	c.(262-264)Cgc>Agc	p.R88S		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	88					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTCGGTATCCGCTGCAACCT	0.642													A	22363249	C	A	22363249	3	1	195	1	0	0	0	0	1	0	0	0	14515	652	23	4	268	4	SLC17A6	11	22363249	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	16852464	22363249	112643267	35	13521											
CD5	921	broad.mit.edu	37	chr11	60885944	60885944	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtcactctctgggcctgaCctgcttaggtgggtaactag	6	12	13	10	0	2	1	1	1	1	0	3	1	2	1	2	3	2	2	2	3	3	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:60885944C>A	uc009ynk.3	+	2	495	c.392C>A	c.(391-393)aCc>aAc	p.T131N		NM_014207	NP_055022	P06127	CD5_HUMAN	Homo sapiens CD5 molecule (CD5), mRNA.	131	SRCR 1.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		CTGGGCCTGACCTGCTTAGGT	0.607													A	60885944	C	A	60885944	3	1	195	1	0	0	0	0	1	0	0	0	3051	507	18	4	402	4	CD5	11	60885944	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	38522695	60885944	74120572	36	13522											
OR2AT4	341152	broad.mit.edu	37	chr11	74799893	74799893	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaaatgagggggttgagaAttggtgtgagaatggcatat	12	12	16	1	0	0	3	0	3	0	2	0	5	0	3	0	4	0	3	0	4	5	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:74799893A>T	uc010rro.2	-	0	866	c.866T>A	c.(865-867)aTt>aAt	p.I289N		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	289					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GGGGTTGAGAATTGGTGTGAG	0.488													T	74799893	A	T	74799893	3	4	195	1	0	0	0	0	1	0	0	0	11063	101	4	5	99	5	OR2AT4	11	74799893	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	13913949	74799893	60206623	37	13523											
MLL	4297	broad.mit.edu	37	chr11	118382698	118382698	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cattgacagataaagtccagGaagctcgatcaaatgcccgc	14	7	9	11	2	1	2	1	1	0	1	3	4	2	3	2	1	2	1	2	1	4	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:118382698G>C	uc001pta.3	+	30	11118	c.11095G>C	c.(11095-11097)Gaa>Caa	p.E3699Q	MLL_uc001ptb.3_Missense_Mutation_p.E3702Q	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3699	FYR C-terminal.				apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		TAAAGTCCAGGAAGCTCGATC	0.418			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118382698	G	C	118382698	3	2	195	1	0	0	0	0	1	0	0	0	9695	1175	41	4	11217	4	MLL	11	118382698	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	43582805	118382698	16623818	38	13524											
OR8G2	26492	broad.mit.edu	37	chr11	124095935	124095935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggctttatgttgagactcTttttgtgcaagactaatgtg	8	16	10	7	1	1	2	0	1	1	2	1	3	1	2	1	1	1	3	1	1	3	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr11:124095935T>C	uc010saf.2	+	0	538	c.538T>C	c.(538-540)Ttt>Ctt	p.F180L		NM_001007249	NP_001007250	Q8N0Y1	Q8N0Y1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily G, member 2 (OR8G2), mRNA.	180						integral to membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.91e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTGAGACTCTTTTTGTGCAA	0.428													C	124095935	T	C	124095935	3	2	195	1	0	0	0	0	1	0	0	0	11311	1609	56	3	540	3	OR8G2	11	124095935	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	5713237	124095935	10910581	39	13525											
ERP27	121506	broad.mit.edu	37	chr12	15073953	15073953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgctttcaatgtcttcGtcctctaaattcagttgttc	8	18	5	10	1	5	0	3	0	2	0	8	0	6	0	1	0	1	3	1	0	4	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:15073953G>A	uc001rco.3	-	3	384	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_152321	NP_689534	Q96DN0	ERP27_HUMAN	Homo sapiens endoplasmic reticulum protein 27 (ERP27), mRNA.	121	Thioredoxin.					endoplasmic reticulum lumen				breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(3)|prostate(2)|skin(1)	19						CAATGTCTTCGTCCTCTAAAT	0.378													A	15073953	G	A	15073953	2	1	195	1	0	0	0	0	0	0	0	1	5282	1136	40	1		1	ERP27	12	15073953	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		15073953	118777942	40	13526											
SLCO1B3	338821	broad.mit.edu	37	chr12	21175884	21175884	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagtaccattggggatttcTtacattgatgattttgcaaa	12	16	8	5	0	1	2	0	2	1	0	1	3	1	3	1	2	3	2	1	2	4	8			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:21175884T>C	uc010sil.2	+						SLCO1B3_uc010sim.2_Silent_p.S194S|SLCO1B3_uc010sin.2_Silent_p.S147S			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TGGGGATTTCTTACATTGATG	0.383													C	21175884	T	C	21175884	2	2	195	1	0	0	0	0	0	0	0	1	14818	1596	56	3		3	SLCO1B3	12	21175884	Silent	SNP	T	TCGA-27-2524-01A-01D-1494-08	6101931	21175884	112676011	41	13527											
ABCD2	225	broad.mit.edu	37	chr12	40012546	40012546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgagtgcacataccgcaaaTagccttttctatgtgcttcc	9	13	7	12	2	1	0	0	0	1	0	3	1	2	0	3	0	4	3	3	0	4	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:40012546T>C	uc001rmb.2	-	0	1298	c.872A>G	c.(871-873)tAt>tGt	p.Y291C		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	291	ABC transmembrane type-1.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.G290G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						ATACCGCAAATAGCCTTTTCT	0.413													C	40012546	T	C	40012546	3	2	195	1	0	0	0	0	1	0	0	0	61	1406	49	3	1390	3	ABCD2	12	40012546	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	18836662	40012546	93839349	42	13528											
AMHR2	269	broad.mit.edu	37	chr12	53823327	53823327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgccattggagacctggGccttgccttggtgctccctg	3	12	14	12	0	0	1	0	0	0	1	1	2	1	1	5	3	3	1	5	3	0	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:53823327G>A	uc001scx.2	+	7	1138	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	AMHR2_uc009zmy.2_Missense_Mutation_p.G353D|AMHR2_uc021qyg.1_Missense_Mutation_p.G353D	NM_020547	NP_065434	Q16671	AMHR2_HUMAN	Homo sapiens anti-Mullerian hormone receptor, type II (AMHR2), transcript variant 1, mRNA.	353	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GGAGACCTGGGCCTTGCCTTG	0.572													A	53823327	G	A	53823327	3	1	195	1	0	0	0	0	1	0	0	0	573	1203	42	2	1088	2	AMHR2	12	53823327	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	13810781	53823327	80028568	43	13529											
LUM	4060	broad.mit.edu	37	chr12	91497971	91497971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacttcgttagcaacacGtagacattcatacatatccg	13	11	7	10	3	1	2	1	1	0	1	3	2	2	2	1	0	3	3	1	0	5	6			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:91497971G>A	uc001tbm.3	-	2	1377	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	330					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R330H(1)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						TTAGCAACACGTAGACATTCA	0.383													A	91497971	G	A	91497971	3	1	195	1	0	0	0	0	1	0	0	0	9155	1145	40	1	32	1	LUM	12	91497971	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	37674644	91497971	42353924	44	13530											
CORO1C	23603	broad.mit.edu	37	chr12	109052586	109052586	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgtgcagatcagactGccattccggttccagctcac	9	9	10	13	1	2	2	2	0	0	2	4	3	4	2	3	1	4	4	3	1	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:109052586G>C	uc009zva.3	-	4	766	c.717C>G	c.(715-717)ggC>ggG	p.G239G	CORO1C_uc001tnj.3_Silent_p.G186G|CORO1C_uc010sxf.2_Silent_p.G149G	NM_014325	NP_055140	Q9ULV4	COR1C_HUMAN	Homo sapiens coronin, actin binding protein, 1C (CORO1C), transcript variant 1, mRNA.	186					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AGATCAGACTGCCATTCCGGT	0.433													C	109052586	G	C	109052586	2	2	195	1	0	0	0	0	0	0	0	1	3786	1306	46	4		4	CORO1C	12	109052586	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	17554615	109052586	24799309	45	13531											
TRPV4	59341	broad.mit.edu	37	chr12	110226433	110226433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaaggtctcgctgtcacgGcacgaggggtaagtgggcac	8	7	16	10	3	2	1	1	1	1	0	3	2	2	1	0	5	0	4	0	5	2	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110226433G>A	uc001tpj.2	-	11	2075	c.1980C>T	c.(1978-1980)tgC>tgT	p.C660C	TRPV4_uc001tpg.2_Silent_p.C626C|TRPV4_uc021rdp.1_Silent_p.C600C|TRPV4_uc001tph.2_Silent_p.C613C|TRPV4_uc001tpi.2_Silent_p.C553C|TRPV4_uc001tpk.2_Silent_p.C660C	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	660					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding	p.C660C(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CGCTGTCACGGCACGAGGGGT	0.597													A	110226433	G	A	110226433	2	1	195	1	0	0	0	0	0	0	0	1	16699	1195	42	2		2	TRPV4	12	110226433	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	1173847	110226433	23625462	46	13532											
TRPV4	59341	broad.mit.edu	37	chr12	110238470	110238470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggaagaagcgcccaCgggcctgggcgtggacatca	8	5	17	11	3	1	1	1	0	0	1	1	3	1	3	2	5	1	1	2	5	2	0			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr12:110238470C>T	uc001tpj.2	-	3	901	c.806G>A	c.(805-807)cGt>cAt	p.R269H	TRPV4_uc001tpg.2_Missense_Mutation_p.R235H|TRPV4_uc021rdp.1_Missense_Mutation_p.R269H|TRPV4_uc001tph.2_Intron|TRPV4_uc001tpi.2_Intron|TRPV4_uc001tpk.2_Missense_Mutation_p.R269H	NM_021625	NP_067638	Q9HBA0	TRPV4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 4 (TRPV4), transcript variant 1, mRNA.	269			R -> C (in CMT2C).|R -> H (in CMT2C and DSMAC).		actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GAAGCGCCCACGGGCCTGGGC	0.632													T	110238470	C	T	110238470	3	4	195	1	0	0	0	0	1	0	0	0	16699	536	19	1	1857	1	TRPV4	12	110238470	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	12037	110238470	23613425	47	13533											
RB1	5925	broad.mit.edu	37	chr13	48951053	48951053	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgtttttacctcctaaaGaactgcacagtgaatccaaa	13	13	5	10	0	1	2	0	1	1	1	3	2	3	2	3	0	3	2	3	0	6	5			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr13:48951053G>C	uc001vcb.3	+	13	1382	c.1216_splice	c.e13-1	p.N406_splice	RB1_uc010act.1_Splice_Site_p.N107_splice	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	406	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCTCCTAAAGAACTGCACAG	0.318		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			C	48951053	G	C	48951053	5	2	195	1	0	0	0	0	0	0	1	0	13186	956	33	4	1265	4	RB1	13	48951053	Splice_Site	SNP	G	TCGA-27-2524-01A-01D-1494-08		48951053	66218825	48	13534											
LEO1	123169	broad.mit.edu	37	chr15	52258194	52258194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggcctctcctcatcaTctgtgttctgcattttctca	5	16	7	13	0	6	1	3	1	4	0	8	1	6	1	2	1	1	3	2	1	0	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr15:52258194T>C	uc002abo.3	-	1	582	c.566A>G	c.(565-567)gAt>gGt	p.D189G	LEO1_uc010bfd.3_Missense_Mutation_p.D189G	NM_138792	NP_620147	Q8WVC0	LEO1_HUMAN	Homo sapiens Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (LEO1), mRNA.	189	Asp-rich.				histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		CTCCTCATCATCTGTGTTCTG	0.433													C	52258194	T	C	52258194	3	2	195	1	0	0	0	0	1	0	0	0	8785	1435	50	3	1478	3	LEO1	15	52258194	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08		52258194	50273198	49	13535											
PDILT	204474	broad.mit.edu	37	chr16	20380898	20380898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcattttgtacctggcGtcagagctcaagtttaggat	10	12	12	7	1	2	1	2	0	0	1	2	3	2	2	1	3	2	4	1	3	4	5	rs150342728	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:20380898G>A	uc002dhc.1	-	7	1255	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	344					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.D344D(2)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TGTACCTGGCGTCAGAGCTCA	0.468													A	20380898	G	A	20380898	2	1	195	1	0	0	0	0	0	0	0	1	11750	1136	40	1		1	PDILT	16	20380898	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		20380898	69973855	50	13536											
CHD9	80205	broad.mit.edu	37	chr16	53330872	53330872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgactcaaaatagatggAcaagaagagaagaagctgac	19	6	10	6	0	2	6	1	2	1	4	2	8	2	7	0	1	1	1	0	1	7	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:53330872A>G	uc002ehb.3	+	28	5679	c.5515A>G	c.(5515-5517)Aca>Gca	p.T1839A	CHD9_uc002egy.3_Missense_Mutation_p.T1839A|CHD9_uc002ehc.3_Missense_Mutation_p.T1839A|CHD9_uc002ehf.3_Missense_Mutation_p.T953A|CHD9_uc002ehg.2_Missense_Mutation_p.T953A|CHD9_uc010cbw.3_Missense_Mutation_p.T207A	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	1839					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAATAGATGGACAAGAAGAGA	0.299													G	53330872	A	G	53330872	3	3	195	1	0	0	0	0	1	0	0	0	3362	275	10	3	5629	3	CHD9	16	53330872	Missense_Mutation	SNP	A	TCGA-27-2524-01A-01D-1494-08	32949974	53330872	37023881	51	13537											
ZFHX3	463	broad.mit.edu	37	chr16	72827367	72827367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagccatcaactgacgtaCggtggctgggtcaaagtatt	10	11	12	8	2	2	2	2	2	0	0	2	2	2	2	1	3	3	3	1	3	4	4			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr16:72827367C>T	uc002fck.3	-	8	9887	c.9214G>A	c.(9214-9216)Gta>Ata	p.V3072I	ZFHX3_uc002fcl.3_Missense_Mutation_p.V2158I	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3072					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.T3071T(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AACTGACGTACGGTGGCTGGG	0.488													T	72827367	C	T	72827367	3	4	195	1	0	0	0	0	1	0	0	0	17735	536	19	1	1905	1	ZFHX3	16	72827367	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19496495	72827367	17527386	52	13538											
CPD	1362	broad.mit.edu	37	chr17	28770823	28770823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtacttaatccaggttCatcagggcgtcagaggattt	9	13	10	9	1	3	1	3	0	0	1	4	2	4	2	2	3	1	2	2	3	2	5			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770823C>A	uc002hfb.2	+	10	2434	c.2377C>A	c.(2377-2379)Cat>Aat	p.H793N	CPD_uc010wbo.2_Missense_Mutation_p.H546N|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	793	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AATCCAGGTTCATCAGGGCGT	0.378													A	28770823	C	A	28770823	3	1	195	1	0	0	0	0	1	0	0	0	3829	826	29	4	2419	4	CPD	17	28770823	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08		28770823	52424387	53	13539											
CPD	1362	broad.mit.edu	37	chr17	28770972	28770972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttccaggaacttataaaatCacagcatctgctcgagggtg	12	10	10	9	1	2	0	1	0	1	0	4	2	3	1	1	2	3	3	1	2	4	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:28770972C>G	uc002hfb.2	+	10	2583	c.2526C>G	c.(2524-2526)atC>atG	p.I842M	CPD_uc010wbo.2_Missense_Mutation_p.I595M|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	842	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						CTTATAAAATCACAGCATCTG	0.423													G	28770972	C	G	28770972	3	3	195	1	0	0	0	0	1	0	0	0	3829	816	29	4	2568	4	CPD	17	28770972	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	149	28770972	52424238	54	13540											
SLC4A1	6521	broad.mit.edu	37	chr17	42337808	42337808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcccggagcagctcctctCggtcctgaggccggatctgg	4	7	16	14	3	2	1	0	1	2	0	5	3	4	3	4	6	2	2	4	6	0	0	rs55735880		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42337808C>T	uc002igf.4	-	5	598	c.449G>A	c.(448-450)cGa>cAa	p.R150Q	SLC4A1_uc021tyc.1_Missense_Mutation_p.R150Q	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	150					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CAGCTCCTCTCGGTCCTGAGG	0.607													T	42337808	C	T	42337808	3	4	195	1	0	0	0	0	1	0	0	0	14744	884	31	1	2346	1	SLC4A1	17	42337808	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	13566836	42337808	38857402	55	13541											
GJC1	10052	broad.mit.edu	37	chr17	42882259	42882259	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgttttgcttgtaggcGatcttagcattggacagttc	6	16	11	8	1	1	0	0	0	1	0	2	2	1	1	1	2	2	5	1	2	2	8	rs138440006		TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:42882259G>T	uc002ihj.3	-	1	1438	c.927C>A	c.(925-927)atC>atA	p.I309I	GJC1_uc002ihk.3_Silent_p.I309I|GJC1_uc002ihl.3_Silent_p.I309I|GJC1_uc021tyf.1_Silent_p.I309I	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	309					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				GCTTGTAGGCGATCTTAGCAT	0.507													T	42882259	G	T	42882259	2	4	195	1	0	0	0	0	0	0	0	1	6470	1048	37	4		4	GJC1	17	42882259	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	544451	42882259	38312951	56	13542											
FMNL1	752	broad.mit.edu	37	chr17	43322740	43322740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagttcctgagggccaactCgcccaccatggacaagctgc	9	6	12	14	1	0	1	0	1	0	0	2	3	1	3	4	3	3	2	4	3	2	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:43322740C>T	uc002iin.3	+	21	3049	c.2849C>T	c.(2848-2850)tCg>tTg	p.S950L	FMNL1_uc002iiq.3_Missense_Mutation_p.S528L|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Missense_Mutation_p.S277L|LOC100133991_uc010dah.3_5'Flank	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	950	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGGGCCAACTCGCCCACCATG	0.617													T	43322740	C	T	43322740	3	4	195	1	0	0	0	0	1	0	0	0	6000	893	31	1	2935	1	FMNL1	17	43322740	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	440481	43322740	37872470	57	13543											
C17orf47	284083	broad.mit.edu	37	chr17	56621327	56621327	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagtgtccaggtcctgacTggagggagacagatcgaggg	10	7	16	8	1	0	3	0	1	0	2	3	6	2	4	2	4	0	0	2	4	1	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:56621327T>A	uc002iwq.2	-	0	407	c.221A>T	c.(220-222)cAg>cTg	p.Q74L		NM_001038704	NP_001033793	Q8NEP4	CQ047_HUMAN	Homo sapiens chromosome 17 open reading frame 47 (C17orf47), mRNA.	74										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGGTCCTGACTGGAGGGAGAC	0.567													A	56621327	T	A	56621327	3	1	195	1	0	0	0	0	1	0	0	0	1874	1580	55	5	1499	5	C17orf47	17	56621327	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	13298587	56621327	24573883	58	13544											
USP32	84669	broad.mit.edu	37	chr17	58258719	58258719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattataaataggcttaataCgagtatcttctctttggtca	12	16	7	6	1	3	0	1	0	2	0	4	2	3	0	0	2	1	2	0	2	7	8	rs17405739	by1000genomes	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:58258719C>T	uc002iyo.1	-	31	4800	c.4514G>A	c.(4513-4515)cGt>cAt	p.R1505H	USP32_uc002iyn.1_Missense_Mutation_p.R1175H	NM_032582	NP_115971	Q8NFA0	UBP32_HUMAN	Homo sapiens ubiquitin specific peptidase 32 (USP32), mRNA.	1505					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AGGCTTAATACGAGTATCTTC	0.383													T	58258719	C	T	58258719	3	4	195	1	0	0	0	0	1	0	0	0	17165	536	19	1	312	1	USP32	17	58258719	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	1637392	58258719	22936491	59	13545											
GAA	2548	broad.mit.edu	37	chr17	78081639	78081639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaccctttctacctggCgctggaggacggcgggtcgg	4	9	15	13	4	2	0	1	0	2	0	4	2	2	2	2	6	1	1	2	6	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr17:78081639C>T	uc002jxp.3	+	4	1266	c.899C>T	c.(898-900)gCg>gTg	p.A300V	GAA_uc002jxo.3_Missense_Mutation_p.A300V|GAA_uc002jxq.3_Missense_Mutation_p.A300V	NM_000152	NP_001073272	P10253	LYAG_HUMAN	Homo sapiens glucosidase, alpha; acid (GAA), transcript variant 1, mRNA.	300					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTCTACCTGGCGCTGGAGGAC	0.697													T	78081639	C	T	78081639	3	4	195	1	0	0	0	0	1	0	0	0	6199	768	27	1	913	1	GAA	17	78081639	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19822920	78081639	3113571	60	13546											
MUC16	94025	broad.mit.edu	37	chr19	9056586	9056586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtggtggcaaatgaaGtcatggcctctgatagagaa	12	9	12	8	0	2	3	1	2	1	1	3	4	3	3	2	3	0	1	2	3	4	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:9056586G>T	uc002mkp.3	-	2	31064	c.30860C>A	c.(30859-30861)aCt>aAt	p.T10287N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10289	Ser-rich.|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						GGCAAATGAAGTCATGGCCTC	0.493													T	9056586	G	T	9056586	3	4	195	1	0	0	0	0	1	0	0	0	10049	1029	36	4	12991	4	MUC16	19	9056586	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		9056586	50072397	61	13547											
NR1H2	7376	broad.mit.edu	37	chr19	50882004	50882004	+	Frame_Shift_Del	DEL	C	C	-																															gatccagcagttggtggcggCccaactgcagtgcaacaaac																										TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr19:50882004delC	uc010enw.3	+	5	1167	c.698delC	c.(697-699)gccfs	p.A233fs	NR1H2_uc002prv.4_Non-coding_Transcript|NR1H2_uc002psa.4_Frame_Shift_Del_p.A136fs	NM_007121	NP_009052	P55055	NR1H2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group H, member 2 (NR1H2), mRNA.	233	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding	p.A232T(1)		endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TTGGTGGCGGCCCAACTGCAG	0.612													-	50882004	C	-	50882004	7	5	195	1	0	1	0	1	0	0	0	0	10693	739	26	0	712	0	NR1H2	19	50882004	Frame_Shift_Del	DEL	C	TCGA-27-2524-01A-01D-1494-08	41825418	50882004	8246979	62	13548											
SIRPG	55423	broad.mit.edu	37	chr20	1616837	1616837	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagggtcctctacctcGgatggcctcagacaagttgg	7	10	14	10	1	2	2	1	1	1	1	4	3	3	3	3	4	1	1	3	4	2	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:1616837G>A	uc002wfm.1	-	2	810	c.745C>T	c.(745-747)Cga>Tga	p.R249*	SIRPG_uc002wfn.1_Nonsense_Mutation_p.R249*|SIRPG_uc002wfo.1_Intron|AK093519_uc002wfp.1_Intron	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	249					blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CCTCTACCTCGGATGGCCTCA	0.622													A	1616837	G	A	1616837	4	1	195	1	0	0	0	0	0	1	0	0	14430	1124	39	1	430	1	SIRPG	20	1616837	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08		1616837	61408683	63	13549											
PLK1S1	55857	broad.mit.edu	37	chr20	21143753	21143753	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtattttgcaaaccctaagCtctcctgattcagaaaagga	13	12	7	9	0	2	2	1	1	1	1	3	3	2	3	2	1	3	3	2	1	5	5			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:21143753C>G	uc002wsb.3	+	5	1438	c.1305C>G	c.(1303-1305)agC>agG	p.S435R	PLK1S1_uc010zsh.2_Missense_Mutation_p.S332R|PLK1S1_uc010zsi.2_Missense_Mutation_p.S302R|PLK1S1_uc010zsj.2_Non-coding_Transcript|BC042893_uc002wsc.3_Intron|PLK1S1_uc002wsd.3_Non-coding_Transcript	NM_018474	NP_060944	Q2M2Z5	KIZ_HUMAN	Homo sapiens polo-like kinase 1 substrate 1 (PLK1S1), transcript variant 1, mRNA.	435					spindle organization	centrosome	protein kinase binding										AAACCCTAAGCTCTCCTGATT	0.368													G	21143753	C	G	21143753	3	3	195	1	0	0	0	0	1	0	0	0	12172	796	28	4	1327	4	PLK1S1	20	21143753	Missense_Mutation	SNP	C	TCGA-27-2524-01A-01D-1494-08	19526916	21143753	41881767	64	13550											
PYGB	5834	broad.mit.edu	37	chr20	25271172	25271172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagttggtcacctccatcgGcgacgtcgtcaatcatgacc	9	9	9	14	4	3	1	3	1	0	0	6	2	4	1	3	2	0	1	3	2	2	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:25271172G>T	uc002wup.3	+	15	1992	c.1883G>T	c.(1882-1884)gGc>gTc	p.G628V	BC128043_uc010gdm.1_5'Flank	NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	628					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	p.G628G(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	ACCTCCATCGGCGACGTCGTC	0.522													T	25271172	G	T	25271172	3	4	195	1	0	0	0	0	1	0	0	0	12948	1203	42	4	1945	4	PYGB	20	25271172	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	4127419	25271172	37754348	65	13551											
SLC32A1	140679	broad.mit.edu	37	chr20	37356106	37356106	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccacagggcatgttcgtGctgggcctaccctacgccat	6	8	11	16	2	0	0	0	0	0	0	1	0	0	0	5	2	3	3	5	2	2	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:37356106G>C	uc002xjc.3	+	1	665	c.402G>C	c.(400-402)gtG>gtC	p.V134V		NM_080552	NP_542119	Q9H598	VIAAT_HUMAN	Homo sapiens solute carrier family 32 (GABA vesicular transporter), member 1 (SLC32A1), mRNA.	134					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	GCATGTTCGTGCTGGGCCTAC	0.647													C	37356106	G	C	37356106	2	2	195	1	0	0	0	0	0	0	0	1	14659	1306	46	4		4	SLC32A1	20	37356106	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	12084934	37356106	25669414	66	13552											
CASS4	57091	broad.mit.edu	37	chr20	55033502	55033502	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgctcttcaaagccaTcagcgcatttcacggcagcc	8	8	11	14	3	4	0	3	0	1	0	4	0	4	0	2	3	3	3	2	3	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:55033502T>A	uc002xxp.2	+	6	2285	c.2060T>A	c.(2059-2061)aTc>aAc	p.I687N	CASS4_uc010zze.1_Missense_Mutation_p.I633N|CASS4_uc002xxr.2_Missense_Mutation_p.I687N|CASS4_uc010gio.2_Missense_Mutation_p.I250N	NM_001164116	NP_065089	Q9NQ75	CASS4_HUMAN	Homo sapiens Cas scaffolding protein family member 4 (CASS4), transcript variant 1, mRNA.	687					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						TTCAAAGCCATCAGCGCATTT	0.577													A	55033502	T	A	55033502	3	1	195	1	0	0	0	0	1	0	0	0	2709	1435	50	5	2082	5	CASS4	20	55033502	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08	17677396	55033502	7992018	67	13553											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288142	61288142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcttcctgtgtgcggcCgcattcctgcaggggatgac	4	12	13	12	2	1	1	0	1	1	0	3	2	3	2	3	3	2	3	3	3	0	3			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr20:61288142C>T	uc002ydb.1	+	1	541	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_016354	NP_057438	Q96BD0	SO4A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4A1 (SLCO4A1), mRNA.	112					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTGTGCGGCCGCATTCCTGC	0.647													T	61288142	C	T	61288142	2	4	195	1	0	0	0	0	0	0	0	1	14823	639	23	1		1	SLCO4A1	20	61288142	Silent	SNP	C	TCGA-27-2524-01A-01D-1494-08	6254640	61288142	1737378	68	13554											
POTEH	23784	broad.mit.edu	37	chr22	16287657	16287657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtgcccacgttgctctTgccgctccccctgcaccagg	6	8	10	17	2	1	1	0	0	1	1	2	1	2	1	5	1	4	4	5	1	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:16287657T>C	uc010gqp.2	-	0	281	c.229A>G	c.(229-231)Aag>Gag	p.K77E	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	77								p.G76C(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						ACGTTGCTCTTGCCGCTCCCC	0.587													C	16287657	T	C	16287657	3	2	195	1	0	0	0	0	1	0	0	0	12344	1821	63	3	1448	3	POTEH	22	16287657	Missense_Mutation	SNP	T	TCGA-27-2524-01A-01D-1494-08		16287657	35016909	69	13555											
ELFN2	114794	broad.mit.edu	37	chr22	37769172	37769172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtcatgcagatcctcGtccttggcgaactggacctt	8	11	11	11	2	1	1	1	0	0	1	4	4	3	3	3	3	2	1	3	3	1	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chr22:37769172G>A	uc003asq.4	-	2	3189	c.2403C>T	c.(2401-2403)gaC>gaT	p.D801D	ELFN2_uc021wph.1_Silent_p.D801D	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	801						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)					GCAGATCCTCGTCCTTGGCGA	0.632													A	37769172	G	A	37769172	2	1	195	1	0	0	0	0	0	0	0	1	5099	1136	40	1		1	ELFN2	22	37769172	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08	21481515	37769172	13535394	70	13556											
RIBC1	158787	broad.mit.edu	37	chrX	53455349	53455349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagcagaagcagcagctcaaGaacgggcgtgaatttagtct	13	7	13	8	2	2	3	1	1	1	2	2	4	2	3	0	1	5	4	0	1	5	2			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:53455349G>A	uc004dsk.3	+	4	522	c.318G>A	c.(316-318)aaG>aaA	p.K106K	RIBC1_uc004dsj.1_Silent_p.K106K|RIBC1_uc011mog.1_Intron	NM_001031745	NP_001026915	Q8N443	RIBC1_HUMAN	Homo sapiens RIB43A domain with coiled-coils 1 (RIBC1), transcript variant 1, mRNA.	106										lung(2)	2						AGCAGCTCAAGAACGGGCGTG	0.512													A	53455349	G	A	53455349	2	1	195	1	0	0	0	0	0	0	0	1	13441	933	33	2		2	RIBC1	23	53455349	Silent	SNP	G	TCGA-27-2524-01A-01D-1494-08		53455349	101815211	71	13557											
CT45A5	441521	broad.mit.edu	37	chrX	134947910	134947910	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttacactacttacttcGtccaaggcatcggatttcct	8	15	6	12	2	1	0	0	0	1	0	5	1	3	1	2	2	3	2	2	2	4	6	rs146235294	byFrequency	TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:134947910G>A	uc004eze.3	-	2	660	c.415C>T	c.(415-417)Cga>Tga	p.R139*	CT45A5_uc022ces.1_Nonsense_Mutation_p.R139*|CT45A5_uc011mvu.2_Nonsense_Mutation_p.R139*	NM_001007551	NP_001165759	Q6NSH3	CT455_HUMAN	Homo sapiens cancer/testis antigen family 45, member A5 (CT45A5), transcript variant 1, mRNA.	139								p.R139Q(2)		endometrium(1)|large_intestine(2)|lung(6)	9						TACTTACTTCGTCCAAGGCAT	0.383													A	134947910	G	A	134947910	4	1	195	1	0	0	0	0	0	1	0	0	4021	1153	40	1	166	1	CT45A5	23	134947910	Nonsense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	81492561	134947910	20322650	72	13558											
AFF2	2334	broad.mit.edu	37	chrX	148069012	148069012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacatggctgccagccacGtcaacatcactagcaatgtg	12	7	8	14	1	2	0	2	0	0	0	2	0	2	0	3	1	4	2	3	1	3	1			TCGA-27-2524-01A-01D-1494-08	TCGA-27-2524-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce679bfd-fbf9-4c78-822e-37d2322d544b	30a97718-a630-4552-89c0-e2fe8af1d1a2	g.chrX:148069012G>A	uc004fcp.3	+	19	4218	c.3739G>A	c.(3739-3741)Gtc>Atc	p.V1247I	AFF2_uc004fcq.3_Missense_Mutation_p.V1237I|AFF2_uc004fcr.3_Missense_Mutation_p.V1208I|AFF2_uc011mxb.2_Missense_Mutation_p.V1212I|AFF2_uc004fcs.3_Missense_Mutation_p.V1212I|AFF2_uc011mxc.2_Missense_Mutation_p.V888I	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1247					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TGCCAGCCACGTCAACATCAC	0.498													A	148069012	G	A	148069012	3	1	195	1	0	0	0	0	1	0	0	0	357	1145	40	1	3872	1	AFF2	23	148069012	Missense_Mutation	SNP	G	TCGA-27-2524-01A-01D-1494-08	13121102	148069012	7201548	73	13559											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919829	12919829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagctggtcaattatctaaCgccaattaaatatctcagaa	16	12	5	8	1	3	1	2	0	2	1	4	1	3	1	1	1	2	1	1	1	9	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:12919829C>T	uc001aum.1	+	2	656	c.569C>T	c.(568-570)aCg>aTg	p.T190M		NM_023014	NP_075390	O60811	PRAM2_HUMAN	Homo sapiens PRAME family member 2 (PRAMEF2), mRNA.	190								p.T190M(2)|p.T190T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATTATCTAACGCCAATTAAA	0.398													T	12919829	C	T	12919829	3	4	196	1	0	0	0	0	1	0	0	0	12518	536	19	1	575	1	PRAMEF2	1	12919829	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		12919829	236330792	1	13560											
ATP13A2	23400	broad.mit.edu	37	chr1	17318252	17318252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccatgacggcgcggatgCgggtccttcgcagagcctgg	6	7	15	13	5	1	2	1	1	0	1	3	3	2	3	3	4	2	1	3	4	0	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:17318252C>T	uc001baa.2	-	19	2418	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	ATP13A2_uc001bac.2_Missense_Mutation_p.R738H|ATP13A2_uc001bab.2_Missense_Mutation_p.R738H	NM_022089	NP_071372	Q9NQ11	AT132_HUMAN	Homo sapiens ATPase type 13A2 (ATP13A2), transcript variant 1, mRNA.	743					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		GGCGCGGATGCGGGTCCTTCG	0.622													T	17318252	C	T	17318252	3	4	196	1	0	0	0	0	1	0	0	0	1129	768	27	1	1590	1	ATP13A2	1	17318252	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4398423	17318252	231932369	2	13561											
WDR78	79819	broad.mit.edu	37	chr1	67301450	67301450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catatggactctgataaataCgttctggccactaaatttta	13	14	6	8	1	2	1	0	1	2	0	2	2	2	2	1	2	1	1	1	2	7	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:67301450C>T	uc001dcx.3	-	10	1648	c.1592G>A	c.(1591-1593)cGt>cAt	p.R531H	WDR78_uc009waw.3_Missense_Mutation_p.R277H|WDR78_uc009wax.3_Intron	NM_024763	NP_079039	Q5VTH9	WDR78_HUMAN	Homo sapiens WD repeat domain 78 (WDR78), transcript variant 1, mRNA.	531										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTGATAAATACGTTCTGGCCA	0.368													T	67301450	C	T	67301450	3	4	196	1	0	0	0	0	1	0	0	0	17430	536	19	1	982	1	WDR78	1	67301450	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	49983198	67301450	181949171	3	13562											
CELSR2	1952	broad.mit.edu	37	chr1	109795999	109795999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggaggccatcatgagcGtgctggtgtcaggtaaggaa	9	9	15	8	1	3	1	2	1	1	0	3	3	3	3	1	5	2	2	1	5	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:109795999G>A	uc001dxa.4	+	0	3359	c.3298G>A	c.(3298-3300)Gtg>Atg	p.V1100M		NM_001408	NP_001399	Q9HCU4	CELR2_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 2 (flamingo homolog, Drosophila) (CELSR2), mRNA.	1100	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATCATGAGCGTGCTGGTGTC	0.637													A	109795999	G	A	109795999	3	1	196	1	0	0	0	0	1	0	0	0	3252	1145	40	1	3300	1	CELSR2	1	109795999	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	42494549	109795999	139454622	4	13563											
HRNR	388697	broad.mit.edu	37	chr1	152191194	152191194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgagctagatccatgttgttCgctcctagatgactgtcctg	7	14	10	10	1	0	4	0	2	0	2	4	4	3	4	3	0	1	4	3	0	2	4			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:152191194C>G	uc001ezt.1	-	2	2987	c.2911G>C	c.(2911-2913)Gaa>Caa	p.E971Q		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	971					keratinization		calcium ion binding|protein binding	p.E971K(2)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGTTGTTCGCTCCTAGAT	0.562													G	152191194	C	G	152191194	3	3	196	1	0	0	0	0	1	0	0	0	7414	893	31	4	5645	4	HRNR	1	152191194	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	42395195	152191194	97059427	5	13564											
CD5L	922	broad.mit.edu	37	chr1	157804375	157804375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtacagccctcccacaTcccagctgccggcacaccac	9	5	7	20	1	1	0	1	0	0	0	3	0	3	0	5	1	4	3	5	1	1	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:157804375T>C	uc001frk.4	-	3	683	c.540A>G	c.(538-540)ggA>ggG	p.G180G		NM_005894	NP_005885	O43866	CD5L_HUMAN	Homo sapiens CD5 molecule-like (CD5L), mRNA.	180	SRCR 2.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCCTCCCACATCCCAGCTGCC	0.587													C	157804375	T	C	157804375	2	2	196	1	0	0	0	0	0	0	0	1	3057	1422	50	3		3	CD5L	1	157804375	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08	5613181	157804375	91446246	6	13565											
CEP350	9857	broad.mit.edu	37	chr1	180063502	180063505	+	Frame_Shift_Del	DEL	GACA	GACA	-																															ctggaaaaaatcagcttactGacagacagtttactaaaagt																										TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr1:180063502_180063505delGACA	uc001gnt.3	+	33	8645_8648	c.8262_8265delGACA	c.(8260-8265)ctgacafs	p.L2754fs	CEP350_uc009wxl.2_Frame_Shift_Del_p.L2753fs|CEP350_uc001gnv.3_Frame_Shift_Del_p.L889fs|CEP350_uc001gnw.1_Frame_Shift_Del_p.L511fs|CEP350_uc001gnx.1_Frame_Shift_Del_p.L511fs	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2754						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TCAGCTTACTGACAGACAGTTTAC	0.358													-	180063505	GACA	-	180063502	7	5	196	1	0	1	0	1	0	0	0	0	3284	1277	45	0	8392	0	CEP350	1	180063502	Frame_Shift_Del	DEL	GACA	TCGA-27-2526-01A-01D-1494-08	22259127	180063502	69187119	7	13566											
SLC5A6	8884	broad.mit.edu	37	chr2	27425742	27425742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagacaaagcagcccatagCcaaaggctgggggaaaagga	16	3	13	9	0	0	1	0	0	0	1	0	3	0	3	2	4	3	2	2	4	6	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:27425742C>T	uc010eyv.1	-	12	1536	c.1214G>A	c.(1213-1215)gGc>gAc	p.G405D	SLC5A6_uc002rjd.3_Missense_Mutation_p.G405D	NM_021095	NP_066918	Q9Y289	SC5A6_HUMAN	Homo sapiens solute carrier family 5 (sodium-dependent vitamin transporter), member 6 (SLC5A6), transcript variant 1, mRNA.	405					biotin metabolic process|pantothenate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent multivitamin transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(8)|ovary(3)|prostate(1)|skin(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Biotin(DB00121)|Lipoic Acid(DB00166)	CAGCCCATAGCCAAAGGCTGG	0.493													T	27425742	C	T	27425742	3	4	196	1	0	0	0	0	1	0	0	0	14763	739	26	2	717	2	SLC5A6	2	27425742	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		27425742	215773631	8	13567											
SLC1A4	6509	broad.mit.edu	37	chr2	65237852	65237852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacctcatccgtttcttcaAttccctcaacgaggcgacga	10	10	7	14	4	4	1	3	0	1	1	6	4	6	1	3	1	1	1	3	1	2	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:65237852A>G	uc010yqa.2	+	3	1038	c.755A>G	c.(754-756)aAt>aGt	p.N252S	SLC1A4_uc010ypz.2_Missense_Mutation_p.N32S|SLC1A4_uc002sdh.3_Missense_Mutation_p.N32S	NM_003038	NP_003029	P43007	SATT_HUMAN	Homo sapiens solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 (SLC1A4), transcript variant 1, mRNA.	252					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CGTTTCTTCAATTCCCTCAAC	0.498													G	65237852	A	G	65237852	3	3	196	1	0	0	0	0	1	0	0	0	14528	101	4	3	769	3	SLC1A4	2	65237852	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08	37812110	65237852	177961521	9	13568											
GPR45	11250	broad.mit.edu	37	chr2	105858641	105858641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccacttctgccgccTctcagccacgctctactggt	5	10	10	16	2	3	0	1	0	3	0	4	1	3	1	4	3	3	1	4	3	1	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:105858641T>C	uc002tco.1	+	0	442	c.326T>C	c.(325-327)cTc>cCc	p.L109P		NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN	Homo sapiens G protein-coupled receptor 45 (GPR45), mRNA.	109						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TTCTGCCGCCTCTCAGCCACG	0.612													C	105858641	T	C	105858641	3	2	196	1	0	0	0	0	1	0	0	0	6750	1551	54	3	328	3	GPR45	2	105858641	Missense_Mutation	SNP	T	TCGA-27-2526-01A-01D-1494-08	40620789	105858641	137340732	10	13569											
NDUFA10	4705	broad.mit.edu	37	chr2	240944658	240944658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggtataaagtgcgattgtCctgcttgagccacggccctt	7	12	12	10	2	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	3	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr2:240944658C>T	uc010fzc.2	-	8	1050	c.949G>A	c.(949-951)Gac>Aac	p.D317N	NDUFA10_uc002vyn.3_Missense_Mutation_p.D287N	NM_004544	NP_004535	O95299	NDUAA_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa (NDUFA10), nuclear gene encoding mitochondrial protein, mRNA.	287					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	GTGCGATTGTCCTGCTTGAGC	0.463													T	240944658	C	T	240944658	3	4	196	1	0	0	0	0	1	0	0	0	10336	855	30	2	220	2	NDUFA10	2	240944658	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	135086017	240944658	2254715	11	13570											
DPPA2	151871	broad.mit.edu	37	chr3	109026881	109026881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaaggttgatcttaccaGaggcttgcatcaaaaaggcc	12	11	9	9	0	2	2	1	1	1	1	2	2	2	2	2	3	2	3	2	3	4	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:109026881G>A	uc003dxo.3	-	5	903	c.656C>T	c.(655-657)tCt>tTt	p.S219F		NM_138815	NP_620170	Q7Z7J5	DPPA2_HUMAN	Homo sapiens developmental pluripotency associated 2 (DPPA2), mRNA.	219						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATCTTACCAGAGGCTTGCAT	0.438													A	109026881	G	A	109026881	3	1	196	1	0	0	0	0	1	0	0	0	4773	942	33	2	252	2	DPPA2	3	109026881	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		109026881	88995549	12	13571											
CD200R1L	344807	broad.mit.edu	37	chr3	112546470	112546470	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgatcaaatttcttaaTgcgataggagggcaacaaag	16	11	9	5	1	2	1	1	1	1	0	2	3	2	2	0	2	2	1	0	2	6	4			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:112546470T>C	uc003dzi.1	-	2	400	c.174A>G	c.(172-174)gcA>gcG	p.A58A	CD200R1L_uc010hqf.1_Silent_p.A37A|CD200R1L_uc011bhw.1_Silent_p.A37A	NM_001008784	NP_001186144	Q6Q8B3	MO2R2_HUMAN	Homo sapiens CD200 receptor 1-like (CD200R1L), transcript variant 1, mRNA.	58	Ig-like V-type.					integral to membrane	receptor activity	p.I57V(1)		breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						AATTTCTTAATGCGATAGGAG	0.393													C	112546470	T	C	112546470	2	2	196	1	0	0	0	0	0	0	0	1	3012	1451	51	3		3	CD200R1L	3	112546470	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08	3519589	112546470	85475960	13	13572											
RNF168	165918	broad.mit.edu	37	chr3	196230195	196230195	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacaggagcatccaacaCgtcttgaagcaaaaaggcgc	16	4	11	10	2	1	2	0	1	1	1	2	4	2	3	1	2	4	2	1	2	5	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr3:196230195C>T	uc003fwq.3	-	0					RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.						double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		GCATCCAACACGTCTTGAAGC	0.493													T	196230195	C	T	196230195	1	4	196	1	0	0	0	0	0	0	0	0	13550	551	19	1		1	RNF168	3	196230195	Translation_Start_Site	SNP	C	TCGA-27-2526-01A-01D-1494-08	83683725	196230195	1792235	14	13573											
HGFAC	3083	broad.mit.edu	37	chr4	3451018	3451018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcgtggcttacctctacGgcatcatcagctggggtgac	7	9	13	12	3	3	1	2	1	1	0	3	1	3	1	1	5	3	3	1	5	2	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:3451018G>A	uc003ghc.3	+	13	1843	c.1840G>A	c.(1840-1842)Ggc>Agc	p.G614S	HGFAC_uc010icw.3_Missense_Mutation_p.G621S	NM_001528	NP_001519	Q04756	HGFA_HUMAN	Homo sapiens HGF activator (HGFAC), mRNA.	614	Peptidase S1.				proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TTACCTCTACGGCATCATCAG	0.672													A	3451018	G	A	3451018	3	1	196	1	0	0	0	0	1	0	0	0	7141	1116	39	1	1894	1	HGFAC	4	3451018	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		3451018	187703258	15	13574											
RBM47	54502	broad.mit.edu	37	chr4	40439840	40439840	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcgttgtaggggtagccGtagtaggccagtgtgtaggg	7	9	19	6	3	0	0	0	0	0	0	0	0	0	0	2	4	2	6	2	4	5	6			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:40439840G>A	uc003gvc.2	-	3	1781	c.1071C>T	c.(1069-1071)taC>taT	p.Y357Y	RBM47_uc003gvd.2_Silent_p.Y357Y|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Silent_p.Y319Y|RBM47_uc003gvg.1_Silent_p.Y357Y	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	357						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						AGGGGTAGCCGTAGTAGGCCA	0.642													A	40439840	G	A	40439840	2	1	196	1	0	0	0	0	0	0	0	1	13229	1140	40	1		1	RBM47	4	40439840	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08	36988822	40439840	150714436	16	13575											
ANK2	287	broad.mit.edu	37	chr4	114276299	114276299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtactcactagtcctttcaaCacaacatttccactcgacta	12	12	3	14	1	2	0	2	0	0	0	5	1	4	0	2	0	3	1	2	0	5	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr4:114276299C>G	uc003ibe.4	+	37	6625	c.6525C>G	c.(6523-6525)aaC>aaG	p.N2175K	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.N2190K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2142					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GTCCTTTCAACACAACATTTC	0.433													G	114276299	C	G	114276299	3	3	196	1	0	0	0	0	1	0	0	0	621	477	17	4	6740	4	ANK2	4	114276299	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	73836459	114276299	76877977	17	13576											
DNAH5	1767	broad.mit.edu	37	chr5	13876806	13876806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacatacctttttggtggagTtgataattgtgctaagcaca	11	14	10	6	0	0	1	0	1	0	0	0	3	0	2	1	2	3	3	1	2	3	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:13876806T>A	uc003jfd.2	-	21	3425	c.3383A>T	c.(3382-3384)aAc>aTc	p.N1128I		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1128	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTTGGTGGAGTTGATAATTGT	0.378									Kartagener syndrome				A	13876806	T	A	13876806	3	1	196	1	0	0	0	0	1	0	0	0	4643	1725	60	5	10723	5	DNAH5	5	13876806	Missense_Mutation	SNP	T	TCGA-27-2526-01A-01D-1494-08		13876806	167038454	18	13577											
C6	729	broad.mit.edu	37	chr5	41186199	41186199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacattttccagattggcCggaacacggtatggattact	10	11	10	10	3	0	1	0	0	0	1	1	4	1	3	3	4	2	1	3	4	3	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:41186199C>T	uc003jmk.2	-	5	909	c.699G>A	c.(697-699)ccG>ccA	p.P233P	C6_uc003jml.1_Silent_p.P233P	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	233	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CCAGATTGGCCGGAACACGGT	0.443													T	41186199	C	T	41186199	2	4	196	1	0	0	0	0	0	0	0	1	2337	639	23	1		1	C6	5	41186199	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	27309393	41186199	139729061	19	13578											
PCDHB7	56129	broad.mit.edu	37	chr5	140554315	140554315	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcagccaagcagaggct	9	3	16	13	4	0	2	0	1	0	1	0	4	0	2	2	2	5	5	2	2	1	0			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:140554315C>T	uc003lit.3	+	0	2073	c.1899C>T	c.(1897-1899)cgC>cgT	p.R633R		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	633	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCAGCCA	0.687													T	140554315	C	T	140554315	2	4	196	1	0	0	0	0	0	0	0	1	11623	755	27	1		1	PCDHB7	5	140554315	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	99368116	140554315	40360945	20	13579											
SH3TC2	79628	broad.mit.edu	37	chr5	148407984	148407984	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccggcaggcgatagctGtctgaggtggccgagaggag	7	6	19	9	3	1	2	0	1	1	1	2	5	2	3	2	6	1	3	2	6	1	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:148407984G>C	uc003lpu.3	-	10	1463	c.1311C>G	c.(1309-1311)gaC>gaG	p.D437E	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc010jgw.3_Missense_Mutation_p.D81E|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.D430E|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.D322E	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	437							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGATAGCTGTCTGAGGTGG	0.622													C	148407984	G	C	148407984	3	2	196	1	0	0	0	0	1	0	0	0	14356	1368	48	4	2583	4	SH3TC2	5	148407984	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	7853669	148407984	32507276	21	13580											
GABRB2	2561	broad.mit.edu	37	chr5	160761758	160761758	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagtaataaaatggcctaCctaatgccacccttgcagct	13	9	7	12	0	0	0	0	0	0	0	0	0	0	0	4	1	5	4	4	1	5	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:160761758C>T	uc003lys.1	-	8	1050	c.832_splice	c.e8+1	p.G278_splice	GABRB2_uc011deh.1_Splice_Site_p.G117_splice|GABRB2_uc003lyr.1_Splice_Site_p.G278_splice|GABRB2_uc003lyt.1_Splice_Site_p.G278_splice|GABRB2_uc021yhg.1_Splice_Site_p.G215_splice	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	278					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAATGGCCTACCTAATGCCAC	0.443													T	160761758	C	T	160761758	5	4	196	1	0	0	0	0	0	0	1	0	6219	521	18	2	721	2	GABRB2	5	160761758	Splice_Site	SNP	C	TCGA-27-2526-01A-01D-1494-08	12353774	160761758	20153502	22	13581											
GABRA6	2559	broad.mit.edu	37	chr5	161117359	161117359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccagcaagaactgtttttGgtatatgtcacattttgtac	10	16	7	8	0	1	1	1	0	0	1	2	1	2	1	1	1	3	4	1	1	5	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr5:161117359G>A	uc003lyu.2	+	7	1164	c.826_splice	c.e7+1	p.G276_splice	GABRA6_uc003lyv.2_Splice_Site_p.G47_splice	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	276					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AACTGTTTTTGGTATATGTCA	0.378										TCGA Ovarian(5;0.080)			A	161117359	G	A	161117359	3	1	196	1	0	0	0	0	1	0	0	0	6217	1362	47	2	852	2	GABRA6	5	161117359	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	355601	161117359	19797901	23	13582											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056237	26056245	+	In_Frame_Del	DEL	CTTCTTGGG	CTTCTTGGG	-																															ggagttgcgccgccagccgcCttcttgggcttcttggctgc																								rs149712381	by1000genomes	TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:26056237_26056245delCTTCTTGGG	uc003nfw.3	-	0	455_463	c.412_420delCCCAAGAAG	c.(412-420)cccaagaagdel	p.PKK138del		NM_005319	NP_005310	P16403	H12_HUMAN	Homo sapiens histone cluster 1, H1c (HIST1H1C), mRNA.	138					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						CGCCAGCCGCCTTCTTGGGCTTCTTGGCT	0.565													-	26056245	CTTCTTGGG	-	26056237	7	5	196	1	0	1	0	1	0	0	0	0	7179	680	24	0	225	0	HIST1H1C	6	26056237	In_Frame_Del	DEL	CTTCTTGGG	TCGA-27-2526-01A-01D-1494-08		26056237	145058830	24	13583											
TAP2	6891	broad.mit.edu	37	chr6	32803482	32803482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggagaaaagctgctccCggatccgcaagttgattcga	11	7	14	9	3	0	2	0	1	0	1	3	6	2	4	2	3	2	4	2	3	3	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:32803482C>T	uc011dqf.1	-	3	799	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	TAP2_uc003ocb.1_Missense_Mutation_p.R226Q|TAP2_uc003occ.3_Missense_Mutation_p.R226Q|TAP2_uc003ocd.3_Missense_Mutation_p.R226Q	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	226	ABC transmembrane type-1.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AAGCTGCTCCCGGATCCGCAA	0.582													T	32803482	C	T	32803482	3	4	196	1	0	0	0	0	1	0	0	0	15648	652	23	1	1504	1	TAP2	6	32803482	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	6747245	32803482	138311585	25	13584											
DNAH8	1769	broad.mit.edu	37	chr6	38750809	38750809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattttatcaagtccggaCggtaaagctgtcatccgtca	11	11	9	10	3	3	0	3	0	0	0	5	2	5	1	2	2	1	2	2	2	4	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:38750809C>T	uc021yzh.1	+	16	2398	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	DNAH8_uc003ooe.2_Silent_p.D546D	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CAAGTCCGGACGGTAAAGCTG	0.378													T	38750809	C	T	38750809	2	4	196	1	0	0	0	0	0	0	0	1	4646	535	19	1		1	DNAH8	6	38750809	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	5947327	38750809	132364258	26	13585											
MANEA	79694	broad.mit.edu	37	chr6	96053740	96053740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatgggccaatctgttaaCcacctcagggtctcggagta	12	9	10	10	1	3	0	1	0	2	0	4	1	3	1	3	3	1	2	3	3	5	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:96053740C>T	uc003poo.2	+	4	1028	c.848C>T	c.(847-849)aCc>aTc	p.T283I		NM_024641	NP_078917	Q5SRI9	MANEA_HUMAN	Homo sapiens mannosidase, endo-alpha (MANEA), mRNA.	283	Catalytic (Probable).				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	glycoprotein endo-alpha-1,2-mannosidase activity			breast(2)|endometrium(3)|kidney(2)|liver(2)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26		all_cancers(76;1.01e-06)|Acute lymphoblastic leukemia(125;3.58e-09)|all_hematologic(75;1.22e-06)|all_epithelial(107;0.00433)|Colorectal(196;0.0341)		BRCA - Breast invasive adenocarcinoma(108;0.148)		AATCTGTTAACCACCTCAGGG	0.398													T	96053740	C	T	96053740	3	4	196	1	0	0	0	0	1	0	0	0	9296	507	18	2	862	2	MANEA	6	96053740	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	57302931	96053740	75061327	27	13586											
SIM1	6492	broad.mit.edu	37	chr6	100841630	100841630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaaaactgtctgtaggCgcacgatgcgtcgtgctggg	7	9	15	10	5	1	0	0	0	1	0	3	2	2	0	1	2	3	3	1	2	3	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr6:100841630C>T	uc003pqj.4	-	9	1770	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T	SIM1_uc021zdg.1_Missense_Mutation_p.A435T|SIM1_uc010kcu.3_Missense_Mutation_p.A435T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	435	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGTCTGTAGGCGCACGATGCG	0.617													T	100841630	C	T	100841630	3	4	196	1	0	0	0	0	1	0	0	0	14417	768	27	1	1005	1	SIM1	6	100841630	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4787890	100841630	70273437	28	13587											
CALCR	799	broad.mit.edu	37	chr7	93108720	93108720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatagcatttgtactgtgCatccatcatcttctttcgtc	7	17	6	11	1	4	0	2	0	2	0	7	0	5	0	1	0	3	3	1	0	2	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:93108720C>T	uc003umv.2	-	4	505	c.205G>A	c.(205-207)Gca>Aca	p.A69T	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.A51T|CALCR_uc003umw.2_Missense_Mutation_p.A51T	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	51					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTGTACTGTGCATCCATCATC	0.418													T	93108720	C	T	93108720	3	4	196	1	0	0	0	0	1	0	0	0	2605	710	25	2	1369	2	CALCR	7	93108720	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		93108720	66029943	29	13588											
TMEM130	222865	broad.mit.edu	37	chr7	98457803	98457803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggggtaaggacctaccCgtccccgaagtcccagctgt	9	6	12	14	2	0	1	0	0	0	1	2	3	2	2	5	3	2	2	5	3	3	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:98457803C>T	uc003upo.3	-	3	740	c.551_splice	c.e3+1	p.G184_splice	TMEM130_uc011kiq.2_Splice_Site_p.G165_splice|TMEM130_uc011kir.2_Splice_Site_p.G184_splice|TMEM130_uc003upn.3_Splice_Site_p.G82_splice	NM_001134450	NP_001127922	Q8N3G9	TM130_HUMAN	Homo sapiens transmembrane protein 130 (TMEM130), transcript variant 1, mRNA.	184	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGACCTACCCGTCCCCGAAG	0.557													T	98457803	C	T	98457803	3	4	196	1	0	0	0	0	1	0	0	0	16143	666	23	1	781	1	TMEM130	7	98457803	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	5349083	98457803	60680860	30	13589											
LAMB4	22798	broad.mit.edu	37	chr7	107745023	107745023	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgcatctctcacagttCggaccatctgtattgtgctg	6	15	8	12	1	3	0	1	0	2	0	6	1	4	1	2	1	2	4	2	1	1	4			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:107745023C>T	uc010ljo.1	-	8	996	c.912G>A	c.(910-912)ccG>ccA	p.P304P	LAMB4_uc003vey.2_Silent_p.P304P	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	304	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCTCACAGTTCGGACCATCTG	0.522													T	107745023	C	T	107745023	2	4	196	1	0	0	0	0	0	0	0	1	8672	871	31	1		1	LAMB4	7	107745023	Silent	SNP	C	TCGA-27-2526-01A-01D-1494-08	9287220	107745023	51393640	31	13590											
UBE3C	9690	broad.mit.edu	37	chr7	157041080	157041081	+	In_Frame_Ins	INS	-	-	TGG																															ggctctctatgagaacatgcINStggtggagctgccctttgca																										TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr7:157041080_157041081insTGG	uc010lqs.3	+	18	2812_2813	c.2500_2501insTGG	c.(2500-2502)ctg>cTGGtg	p.835_836insV	UBE3C_uc003wni.4_In_Frame_Ins_p.198_199insV	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	835	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.E836E(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		TGAGAACATGCTGGTGGAGCTG	0.47													TGG	157041081	-	TGG	157041080	7	5	196	1	0	1	1	0	0	0	0	0	16983	796	28	0	2574	0	UBE3C	7	157041080	In_Frame_Ins	INS	-	TCGA-27-2526-01A-01D-1494-08	49296057	157041080	2097583	32	13591											
RP1L1	94137	broad.mit.edu	37	chr8	10467799	10467799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcttcatcctcattggtgGcacaagcgcaggctcgggcg	6	9	13	13	3	2	0	2	0	0	0	4	0	3	0	1	4	2	4	1	4	1	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:10467799G>A	uc003wtc.3	-	3	4038	c.3809C>T	c.(3808-3810)gCc>gTc	p.A1270V		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	1270					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCATTGGTGGCACAAGCGCA	0.517													A	10467799	G	A	10467799	3	1	196	1	0	0	0	0	1	0	0	0	13624	1203	42	2	3397	2	RP1L1	8	10467799	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		10467799	135896223	33	13592											
CSMD3	114788	broad.mit.edu	37	chr8	113420591	113420591	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgttattggtccaactGaagtaaatcgaattgtgatc	12	14	9	6	1	0	2	0	2	0	0	3	3	1	2	1	1	2	3	1	1	7	5			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr8:113420591G>T	uc003ynu.3	-	33	5720	c.5561C>A	c.(5560-5562)tCa>tAa	p.S1854*	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Nonsense_Mutation_p.S1814*|CSMD3_uc011lhx.2_Nonsense_Mutation_p.S1750*	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1854	CUB 10.					integral to membrane|plasma membrane		p.T1853N(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGGTCCAACTGAAGTAAATCG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113420591	G	T	113420591	4	4	196	1	0	0	0	0	0	1	0	0	3979	1294	45	4	5714	4	CSMD3	8	113420591	Nonsense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	102952792	113420591	32943431	34	13593											
MAT1A	4143	broad.mit.edu	37	chr10	82034790	82034790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctggacaagcactctccGgcagagccctgctttcacca	9	8	8	16	1	2	1	1	0	1	1	3	2	2	2	4	2	4	3	4	2	2	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:82034790G>A	uc001kbw.3	-	6	1189	c.934C>T	c.(934-936)Cgg>Tgg	p.R312W		NM_000429	NP_000420	Q00266	METK1_HUMAN	Homo sapiens methionine adenosyltransferase I, alpha (MAT1A), mRNA.	312					methylation|S-adenosylmethionine biosynthetic process|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			endometrium(4)|large_intestine(7)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26			Colorectal(32;0.229)		L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AGCACTCTCCGGCAGAGCCCT	0.632													A	82034790	G	A	82034790	3	1	196	1	0	0	0	0	1	0	0	0	9404	1115	39	1	265	1	MAT1A	10	82034790	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		82034790	53499957	35	13594											
PTEN	5728	broad.mit.edu	37	chr10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactggtgtaatgatatGtgcatatttattacatcggg	12	14	10	5	2	0	1	0	1	0	0	1	2	0	1	0	2	3	2	0	2	6	6			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr10:89692923G>A	uc001kfb.3	+	4	1439	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692923	G	A	89692923	3	1	196	1	0	0	0	0	1	0	0	0	12823	1377	48	2	425	2	PTEN	10	89692923	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	7658133	89692923	45841824	36	13595											
OR9G4	283189	broad.mit.edu	37	chr11	56510803	56510803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaatcctcctatgtaggagCcagcaacaagcccagtacag	15	6	8	12	0	0	0	0	0	0	0	2	1	2	1	4	1	5	3	4	1	7	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:56510803C>A	uc010rjo.2	-	0	485	c.485G>T	c.(484-486)gGc>gTc	p.G162V		NM_001005284	NP_001005284	Q8NGQ1	OR9G4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily G, member 4 (OR9G4), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G162G(1)		NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TATGTAGGAGCCAGCAACAAG	0.463													A	56510803	C	A	56510803	3	1	196	1	0	0	0	0	1	0	0	0	11327	739	26	4	501	4	OR9G4	11	56510803	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		56510803	78495713	37	13596											
TECTA	7007	broad.mit.edu	37	chr11	121028677	121028677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctgcgcaacggggtgcgcgGctgcttcagcaccaagacct	7	6	14	14	4	1	1	1	0	0	1	1	1	1	1	2	3	5	5	2	3	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr11:121028677G>A	uc010rzo.2	+	12	4433	c.4433G>A	c.(4432-4434)gGc>gAc	p.G1478D		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1478					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGGGTGCGCGGCTGCTTCAGC	0.682													A	121028677	G	A	121028677	3	1	196	1	0	0	0	0	1	0	0	0	15847	1203	42	2	4483	2	TECTA	11	121028677	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	64517874	121028677	13977839	38	13597											
LRIG3	121227	broad.mit.edu	37	chr12	59270251	59270251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtcatgttgtggtaagaAaaatccagcacctgaagatg	14	10	10	7	0	1	3	1	1	0	2	2	3	2	3	2	1	1	3	2	1	4	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59270251A>G	uc001sqr.3	-	15	2917	c.2671T>C	c.(2671-2673)Ttc>Ctc	p.F891L	LRIG3_uc009zqh.3_Missense_Mutation_p.F831L|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	891						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TGTGGTAAGAAAAATCCAGCA	0.418			T	ROS1	NSCLC								G	59270251	A	G	59270251	3	3	196	1	0	0	0	0	1	0	0	0	9016	14	1	3	704	3	LRIG3	12	59270251	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08		59270251	74581644	39	13598											
LRIG3	121227	broad.mit.edu	37	chr12	59271192	59271192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttacacacctgtgttggtAatgctgcaatcttcattcct	8	16	7	10	0	2	0	1	0	1	0	3	0	3	0	2	1	3	5	2	1	3	6			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:59271192A>G	uc001sqr.3	-	14	2772	c.2526T>C	c.(2524-2526)atT>atC	p.I842I	LRIG3_uc009zqh.3_Silent_p.I782I|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	842						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CTGTGTTGGTAATGCTGCAAT	0.493			T	ROS1	NSCLC								G	59271192	A	G	59271192	2	3	196	1	0	0	0	0	0	0	0	1	9016	358	13	3		3	LRIG3	12	59271192	Silent	SNP	A	TCGA-27-2526-01A-01D-1494-08	941	59271192	74580703	40	13599											
PLBD2	196463	broad.mit.edu	37	chr12	113825637	113825637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctatctccgcccgctccGacctcaacccggccaatggc	7	7	8	19	4	2	0	1	0	1	0	4	1	3	0	6	2	2	2	6	2	3	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr12:113825637G>A	uc001tve.2	+	10	1563	c.1528G>A	c.(1528-1530)Gac>Aac	p.D510N	PLBD2_uc001tvf.2_Missense_Mutation_p.D478N	NM_173542	NP_775813	Q8NHP8	PLBL2_HUMAN	Homo sapiens phospholipase B domain containing 2 (PLBD2), transcript variant 1, mRNA.	510					lipid catabolic process	lysosomal lumen	hydrolase activity	p.S509S(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CGCCCGCTCCGACCTCAACCC	0.617													A	113825637	G	A	113825637	3	1	196	1	0	0	0	0	1	0	0	0	12103	1058	37	1	1570	1	PLBD2	12	113825637	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	54554445	113825637	20026258	41	13600											
ZMYM2	7750	broad.mit.edu	37	chr13	20625722	20625722	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacaactcagaaaggaccTgaaaacttacattatggtat	17	10	7	7	0	1	3	1	2	0	1	1	4	1	4	1	2	3	1	1	2	7	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr13:20625722T>C	uc001umr.3	+	13	2740	c.2442T>C	c.(2440-2442)ccT>ccC	p.P814P	ZMYM2_uc001ums.3_Silent_p.P814P|ZMYM2_uc021rgy.1_Silent_p.P814P|ZMYM2_uc001umt.3_Silent_p.P814P|ZMYM2_uc010tco.1_Non-coding_Transcript|ZMYM2_uc001umv.3_Silent_p.P194P|ZMYM2_uc001umw.3_Silent_p.P267P	NM_003453	NP_932072	Q9UBW7	ZMYM2_HUMAN	Homo sapiens zinc finger, MYM-type 2 (ZMYM2), transcript variant 1, mRNA.	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AGAAAGGACCTGAAAACTTAC	0.368													C	20625722	T	C	20625722	2	2	196	1	0	0	0	0	0	0	0	1	17801	1567	55	3		3	ZMYM2	13	20625722	Silent	SNP	T	TCGA-27-2526-01A-01D-1494-08		20625722	94544156	42	13601											
GALC	2581	broad.mit.edu	37	chr14	88416243	88416243	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggatgtttttccaagtttGgtataccatacctgtagctc	8	16	8	9	1	0	0	0	0	0	0	3	1	1	1	3	2	3	5	3	2	5	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr14:88416243G>T	uc001xvt.3	-	11	1391	c.1284C>A	c.(1282-1284)acC>acA	p.T428T	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.T405T|GALC_uc010tvx.2_Silent_p.T402T|GALC_uc010tvz.1_Silent_p.T372T	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	428					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTCCAAGTTTGGTATACCATA	0.333													T	88416243	G	T	88416243	2	4	196	1	0	0	0	0	0	0	0	1	6255	1335	47	4		4	GALC	14	88416243	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08		88416243	18933297	43	13602											
CKMT1B	1159	broad.mit.edu	37	chr15	43891425	43891425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaacggcgtctggagagagGccaggatatccgcatcccca	10	6	13	12	3	1	2	0	1	1	1	3	5	3	4	4	4	1	1	4	4	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:43891425G>A	uc001zsc.3	+	9	1600	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	CKMT1B_uc010uds.2_Missense_Mutation_p.G434D|CKMT1B_uc010bdj.3_Non-coding_Transcript	NM_020990	NP_066270	P12532	KCRU_HUMAN	Homo sapiens creatine kinase, mitochondrial 1B (CKMT1B), nuclear gene encoding mitochondrial protein, mRNA.	403					creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	CTGGAGAGAGGCCAGGATATC	0.493													A	43891425	G	A	43891425	3	1	196	1	0	0	0	0	1	0	0	0	3481	1203	42	2	1242	2	CKMT1B	15	43891425	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08		43891425	58639967	44	13603											
FBN1	2200	broad.mit.edu	37	chr15	48760692	48760692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagtgttgacacagttcCcactgatgcacgtggttgga	8	11	13	9	1	0	2	0	2	0	0	1	4	1	4	1	3	1	4	1	3	0	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:48760692C>T	uc001zwx.2	-	36	4894	c.4499G>A	c.(4498-4500)gGg>gAg	p.G1500E	FBN1_uc010beo.2_5'Flank	NM_000138	NP_000129	P35555	FBN1_HUMAN	Homo sapiens fibrillin 1 (FBN1), mRNA.	1500	EGF-like 26; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GACACAGTTCCCACTGATGCA	0.473													T	48760692	C	T	48760692	3	4	196	1	0	0	0	0	1	0	0	0	5751	623	22	2	4236	2	FBN1	15	48760692	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08	4869267	48760692	53770700	45	13604											
IGF1R	3480	broad.mit.edu	37	chr15	99251008	99251008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctcttccccaacctcacGgtcatccgcggctggaaact	8	8	8	17	3	3	0	2	0	1	0	5	2	5	1	5	3	2	1	5	3	2	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr15:99251008G>A	uc002bul.3	+	1	362	c.312G>A	c.(310-312)acG>acA	p.T104T	IGF1R_uc010urq.2_Silent_p.T104T|IGF1R_uc010bon.3_Silent_p.T104T	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	104					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAACCTCACGGTCATCCGCG	0.547													A	99251008	G	A	99251008	2	1	196	1	0	0	0	0	0	0	0	1	7629	1103	39	1		1	IGF1R	15	99251008	Silent	SNP	G	TCGA-27-2526-01A-01D-1494-08	50490316	99251008	3280384	46	13605											
RLTPR	146206	broad.mit.edu	37	chr16	67681065	67681065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctacaacctgtggttcCggtgcctctcctgtgtggac	4	13	11	13	1	1	0	0	0	1	0	4	1	3	1	5	3	3	1	5	3	2	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr16:67681065C>T	uc002etn.3	+	8	778	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	RLTPR_uc010cel.1_Missense_Mutation_p.R220W|RLTPR_uc010vjr.2_Missense_Mutation_p.R220W	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	220										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CCTGTGGTTCCGGTGCCTCTC	0.672													T	67681065	C	T	67681065	3	4	196	1	0	0	0	0	1	0	0	0	13485	643	23	1	692	1	RLTPR	16	67681065	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		67681065	22673688	47	13606											
MUC16	94025	broad.mit.edu	37	chr19	9021119	9021119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgacccatgtcctcccCatactgcaggttggtgatgg	7	10	13	11	0	0	2	0	2	0	0	2	2	2	2	4	4	2	2	4	4	1	2			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:9021119C>T	uc002mkp.3	-	18	37408	c.37204G>A	c.(37204-37206)Ggg>Agg	p.G12402R		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12404	SEA 3.				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						ATGTCCTCCCCATACTGCAGG	0.547													T	9021119	C	T	9021119	3	4	196	1	0	0	0	0	1	0	0	0	10049	594	21	2	6583	2	MUC16	19	9021119	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		9021119	50107864	48	13607											
NWD1	284434	broad.mit.edu	37	chr19	16874718	16874718	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccctatcacctgcttcActcgggccgcctggaggagc	5	9	12	15	2	2	0	2	0	0	0	3	2	2	2	4	3	3	2	4	3	1	3	rs111332125		TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr19:16874718A>G	uc002neu.4	+	8	2635	c.2213A>G	c.(2212-2214)cAc>cGc	p.H738R	NWD1_uc002net.4_Missense_Mutation_p.H603R|NWD1_uc002nev.4_Missense_Mutation_p.H532R|NWD1_uc021uqg.1_Missense_Mutation_p.H603R	NM_001007525	NP_001007526	Q149M9	NWD1_HUMAN	Homo sapiens NACHT and WD repeat domain containing 1 (NWD1), mRNA.	738							ATP binding	p.T737T(1)		NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CACCTGCTTCACTCGGGCCGC	0.612													G	16874718	A	G	16874718	3	3	196	1	0	0	0	0	1	0	0	0	10857	159	6	3	1826	3	NWD1	19	16874718	Missense_Mutation	SNP	A	TCGA-27-2526-01A-01D-1494-08	7853599	16874718	42254265	49	13608											
SYCP2	10388	broad.mit.edu	37	chr20	58471554	58471554	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaatcattgatgcttcAgacatttttcttttgctagg	11	16	7	7	0	3	2	2	1	1	1	3	3	3	2	0	1	3	2	0	1	3	7			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr20:58471554A>G	uc002yaz.3	-	17	1573	c.1434T>C	c.(1432-1434)tcT>tcC	p.S478S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	478					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGATGCTTCAGACATTTTTC	0.313													G	58471554	A	G	58471554	2	3	196	1	0	0	0	0	0	0	0	1	15529	175	7	3		3	SYCP2	20	58471554	Silent	SNP	A	TCGA-27-2526-01A-01D-1494-08		58471554	4553966	50	13609											
PITPNB	23760	broad.mit.edu	37	chr22	28310333	28310333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatggcaaaaccacaCggctaaaaagacaaaagaaa	23	2	7	9	1	0	3	0	0	0	3	0	3	0	3	1	2	2	2	1	2	9	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chr22:28310333C>T	uc011akh.2	-	1	101	c.29G>A	c.(28-30)cGt>cAt	p.R10H	PITPNB_uc003adk.3_Missense_Mutation_p.R8H|PITPNB_uc003adl.3_Missense_Mutation_p.R8H	NM_012399	NP_036531	P48739	PIPNB_HUMAN	Homo sapiens phosphatidylinositol transfer protein, beta (PITPNB), mRNA.	8					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						CAAAACCACACGGCTAAAAAG	0.318													T	28310333	C	T	28310333	3	4	196	1	0	0	0	0	1	0	0	0	12025	536	19	1	832	1	PITPNB	22	28310333	Missense_Mutation	SNP	C	TCGA-27-2526-01A-01D-1494-08		28310333	22994233	51	13610											
ELK1	2002	broad.mit.edu	37	chrX	47509844	47509844	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtagcgtggcggtggcGttggcaatgttggcagctcc	4	11	18	8	3	0	0	0	0	0	0	1	0	1	0	1	5	2	6	1	5	2	3			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:47509844G>A	uc004dik.4	-	0					ELK1_uc010nhv.3_5'UTR|ELK1_uc010nhw.3_5'UTR|ELK1_uc004dil.4_Non-coding_Transcript	NM_001114123	NP_005220	P19419	ELK1_HUMAN	Homo sapiens ELK1, member of ETS oncogene family (ELK1), transcript variant 1, mRNA.						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGGCGGTGGCGTTGGCAATGT	0.726													A	47509844	G	A	47509844	1	1	196	1	0	0	0	0	0	0	0	0	5100	1160	40	1		1	ELK1	23	47509844	Translation_Start_Site	SNP	G	TCGA-27-2526-01A-01D-1494-08		47509844	107760716	52	13611											
PNMA3	29944	broad.mit.edu	37	chrX	152226004	152226004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagatgtggcaggtgcccGagggggaaaagaggcggagg	11	4	20	6	2	0	2	0	0	0	2	0	5	0	4	1	7	2	1	1	7	3	1			TCGA-27-2526-01A-01D-1494-08	TCGA-27-2526-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc1abcb7-b4e9-4447-b0c5-0fc09401eec0	2cc9e13d-f78f-40bc-b90e-62b7784293f3	g.chrX:152226004G>A	uc022cho.1	+	0	592	c.592G>A	c.(592-594)Gag>Aag	p.E198K	PNMA3_uc004fhc.2_Missense_Mutation_p.E198K|PNMA3_uc004fhd.3_5'Flank	NM_013364	NP_037496	Q9UL41	PNMA3_HUMAN	Homo sapiens paraneoplastic antigen MA3 (PNMA3), mRNA.	198					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaggtgcccgagggggaaaa	0.577													A	152226004	G	A	152226004	3	1	196	1	0	0	0	0	1	0	0	0	12232	1059	37	1	594	1	PNMA3	23	152226004	Missense_Mutation	SNP	G	TCGA-27-2526-01A-01D-1494-08	104716160	152226004	3044556	53	13612											
TAS1R2	80834	broad.mit.edu	37	chr1	19181421	19181421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgctgggtgtggtacgCagcaaagccgggaagcgcac	8	5	17	11	5	0	0	0	0	0	0	1	1	0	1	1	4	4	5	1	4	3	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:19181421C>T	uc001bba.1	-	2	544	c.543G>A	c.(541-543)ctG>ctA	p.L181L		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	181					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GTGTGGTACGCAGCAAAGCCG	0.622													T	19181421	C	T	19181421	2	4	197	1	0	0	0	0	0	0	0	1	15660	697	25	2		2	TAS1R2	1	19181421	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08		19181421	230069200	1	13613											
COL16A1	1307	broad.mit.edu	37	chr1	32126216	32126216	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggaccgggtcttccctgGggtcccatggcaccaggttc	4	8	16	13	1	1	0	0	0	1	0	4	1	3	1	4	7	0	2	4	7	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:32126216G>T	uc001btk.1	-	61	4214	c.3849C>A	c.(3847-3849)ccC>ccA	p.P1283P	COL16A1_uc001btj.1_Silent_p.P1081P	NM_001856	NP_001847	Q07092	COGA1_HUMAN	Homo sapiens collagen, type XVI, alpha 1 (COL16A1), mRNA.	1283	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GTCTTCCCTGGGGTCCCATGG	0.547													T	32126216	G	T	32126216	2	4	197	1	0	0	0	0	0	0	0	1	3704	1219	43	4		4	COL16A1	1	32126216	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	12944795	32126216	217124405	2	13614											
DAB1	1600	broad.mit.edu	37	chr1	57491656	57491656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagcaatgcatacttacggGgggagaggttatatcagggg	12	8	16	5	1	1	2	1	0	0	2	1	3	1	2	0	6	4	3	0	6	5	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:57491656G>A	uc009vzx.1	-	9	1104	c.784C>T	c.(784-786)Ccc>Tcc	p.P262S	DAB1_uc001cyt.1_Missense_Mutation_p.P260S|DAB1_uc001cyq.1_Missense_Mutation_p.P260S|DAB1_uc001cyr.1_Missense_Mutation_p.P176S|DAB1_uc009vzw.1_Missense_Mutation_p.P244S|DAB1_uc001cys.1_Missense_Mutation_p.P262S	NM_021080	NP_066566	O75553	DAB1_HUMAN	Homo sapiens disabled homolog 1 (Drosophila) (DAB1), mRNA.	295					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						ATACTTACGGGGGGAGAGGTT	0.463													A	57491656	G	A	57491656	3	1	197	1	0	0	0	0	1	0	0	0	4251	1232	43	2	903	2	DAB1	1	57491656	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	25365440	57491656	191758965	3	13615											
HFM1	164045	broad.mit.edu	37	chr1	91846537	91846537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaaatacttctaaattttgCcgcttacaataacattaagg	16	13	5	7	1	1	0	0	0	1	0	1	1	1	0	1	1	4	1	1	1	9	8			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:91846537C>T	uc001doa.4	-	6	904	c.805G>A	c.(805-807)Gca>Aca	p.A269T	HFM1_uc010osu.2_Intron|HFM1_uc010osv.1_Intron|HFM1_uc001doc.1_Missense_Mutation_p.A269T	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	269							ATP binding|ATP-dependent helicase activity|nucleic acid binding	p.P268L(2)|p.A269T(2)		breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CTAAATTTTGCCGCTTACAAT	0.219													T	91846537	C	T	91846537	3	4	197	1	0	0	0	0	1	0	0	0	7138	739	26	2	3634	2	HFM1	1	91846537	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	34354881	91846537	157404084	4	13616											
CCDC18	343099	broad.mit.edu	37	chr1	93649564	93649564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgaaaattctgattatgCccctaatccttcaaggtctg	12	13	7	9	0	3	2	1	2	2	0	4	2	4	2	3	1	1	0	3	1	6	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:93649564C>T	uc021opx.1	+	2	325	c.164C>T	c.(163-165)gCc>gTc	p.A55V		NM_206886	NP_996769	Q5T9S5	CCD18_HUMAN	Homo sapiens coiled-coil domain containing 18 (CCDC18), mRNA.	55										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		TCTGATTATGCCCCTAATCCT	0.323													T	93649564	C	T	93649564	3	4	197	1	0	0	0	0	1	0	0	0	2821	739	26	2	528	2	CCDC18	1	93649564	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	1803027	93649564	155601057	5	13617											
PHGDH	26227	broad.mit.edu	37	chr1	120285535	120285535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggctgtgggcttggtcCaaggcactacgcctgtactg	7	9	13	12	1	0	0	0	0	0	0	1	0	1	0	3	4	2	4	3	4	3	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:120285535C>G	uc001ehz.3	+	10	1542	c.1315C>G	c.(1315-1317)Caa>Gaa	p.Q439E	PHGDH_uc009whm.3_Missense_Mutation_p.Q337E|PHGDH_uc001eib.3_Missense_Mutation_p.Q405E	NM_006623	NP_006614	O43175	SERA_HUMAN	Homo sapiens phosphoglycerate dehydrogenase (PHGDH), mRNA.	439					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGGCTTGGTCCAAGGCACTAC	0.657													G	120285535	C	G	120285535	3	3	197	1	0	0	0	0	1	0	0	0	11918	595	21	4	1357	4	PHGDH	1	120285535	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	26635971	120285535	128965086	6	13618											
THBS3	7059	broad.mit.edu	37	chr1	155170717	155170719	+	In_Frame_Del	DEL	CAT	CAT	-																															cttgatcccatccccatcagCatcatcatcacactggtccc																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155170717_155170719delCAT	uc001fix.3	-	12	1622_1624	c.1517_1519delATG	c.(1516-1521)gatgct>gct	p.D506del	THBS3_uc021pat.1_5'UTR|THBS3_uc010pfu.2_In_Frame_Del_p.D386del|THBS3_uc009wqi.3_In_Frame_Del_p.D497del|THBS3_uc001fiy.3_In_Frame_Del_p.D35del|THBS3_uc010pfv.2_Non-coding_Transcript|THBS3_uc001fja.2_Non-coding_Transcript	NM_007112	NP_009043	P49746	TSP3_HUMAN	Homo sapiens thrombospondin 3 (THBS3), transcript variant 1, mRNA.	506					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCCATCAGCATCATCATCACA	0.542													-	155170719	CAT	-	155170717	7	5	197	1	0	1	0	1	0	0	0	0	15955	710	25	0	1395	0	THBS3	1	155170717	In_Frame_Del	DEL	CAT	TCGA-27-2527-01A-01D-1494-08	34885182	155170717	94079904	7	13619											
GON4L	55249	broad.mit.edu	37	chr1	155629578	155629578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcggctccagagcttgccttCcctcctctgttttcacaacg	5	12	8	16	2	2	1	1	0	1	1	5	1	5	1	4	1	3	3	4	1	1	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:155629578C>G	uc010pgi.2	-	9	2729	c.2537G>C	c.(2536-2538)gGa>gCa	p.G846A	GON4L_uc021paz.1_Missense_Mutation_p.G688A|GON4L_uc010pgg.2_Missense_Mutation_p.G593A|GON4L_uc010pgh.2_Missense_Mutation_p.G697A|GON4L_uc009wqt.3_Missense_Mutation_p.G677A|GON4L_uc001flh.3_Missense_Mutation_p.G826A|GON4L_uc001fll.3_Missense_Mutation_p.G708A|GON4L_uc001flk.3_Missense_Mutation_p.G697A|GON4L_uc001flm.3_Missense_Mutation_p.G697A|GON4L_uc009wqu.3_Missense_Mutation_p.G541A|GON4L_uc009wqv.3_Missense_Mutation_p.G425A|GON4L_uc009wqw.3_Missense_Mutation_p.G677A|GON4L_uc001flj.3_Missense_Mutation_p.G688A|GON4L_uc001fli.3_Missense_Mutation_p.G708A|GON4L_uc001flo.3_Missense_Mutation_p.G642A|GON4L_uc001fln.3_Missense_Mutation_p.G754A|GON4L_uc010pgj.2_3'UTR|GON4L_uc001flp.3_Missense_Mutation_p.G708A	NM_001198903	NP_001185832	Q3T8J9	GON4L_HUMAN	Homo sapiens YY1 associated protein 1 (YY1AP1), transcript variant 10, mRNA.	1298					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGCTTGCCTTCCCTCCTCTGT	0.527													G	155629578	C	G	155629578	3	3	197	1	0	0	0	0	1	0	0	0	6625	855	30	4		4	GON4L	1	155629578	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	458861	155629578	93621043	8	13620											
CFHR1	10878	broad.mit.edu	37	chr1	196749091	196749091	+	Missense_Mutation	SNP	T	T	C																															gctggtctcctactcccagaTgcatccgtgtcagtaagtac																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749091T>C	uc001gtl.3	+	2	505	c.418T>C	c.(418-420)Tgc>Cgc	p.C140R	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.C140R|CFHR1_uc010poy.2_Missense_Mutation_p.C140R|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	140	Sushi 2.				complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TACTCCCAGATGCATCCGTGT	0.493													C	196749091	T	C	196749091	3	2	197	1	0	0	0	0	1	0	0	0	3314	1464	51	3		3	CFHR1	1	196749091	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	41119513	196749091	52501530	9	13621	16	2									
CFHR1	10878	broad.mit.edu	37	chr1	196749101	196749101	+	Missense_Mutation	SNP	T	T	A																															tactcccagatgcatccgtgTcagtaagtacaccgctctga																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:196749101T>A	uc001gtl.3	+	2	515	c.428T>A	c.(427-429)gTc>gAc	p.V143D	CFH_uc021pgt.1_Intron|CFHR1_uc001gtk.3_Missense_Mutation_p.V143D|CFHR1_uc010poy.2_Missense_Mutation_p.V143D|CFHR1_uc001gtm.3_Intron	NM_021023	NP_066303	Q03591	FHR1_HUMAN	Homo sapiens complement factor H-related 3 (CFHR3), transcript variant 1, mRNA.	143					complement activation	extracellular space				NS(1)|kidney(1)|large_intestine(2)|lung(7)	11						TGCATCCGTGTCAGTAAGTAC	0.478													A	196749101	T	A	196749101	3	1	197	1	0	0	0	0	1	0	0	0	3314	1667	58	5		5	CFHR1	1	196749101	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	10	196749101	52501520	10	13622	16	2									
OR2G2	81470	broad.mit.edu	37	chr1	247752159	247752159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtacagtccaccctcacCctgcagctgcccttctgtgg	5	10	9	17	0	2	0	1	0	1	0	3	0	3	0	4	2	4	3	4	2	1	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr1:247752159C>T	uc010pyy.2	+	0	498	c.498C>T	c.(496-498)acC>acT	p.T166T		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T166T(2)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCACCCTCACCCTGCAGCTGC	0.542													T	247752159	C	T	247752159	2	4	197	1	0	0	0	0	0	0	0	1	11074	610	22	2		2	OR2G2	1	247752159	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	51003058	247752159	1498462	11	13623											
NRXN1	9378	broad.mit.edu	37	chr2	50850508	50850508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattatcattaaactttcCattcacaggctccactagtg	11	13	6	11	0	2	0	2	0	0	0	4	0	4	0	2	2	1	2	2	2	4	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:50850508C>T	uc021vhh.1	-	4	1999	c.1078G>A	c.(1078-1080)Gga>Aga	p.G360R	NRXN1_uc002rxb.4_Missense_Mutation_p.G40R|NRXN1_uc021vhg.1_Missense_Mutation_p.G393R|NRXN1_uc021vhi.1_Missense_Mutation_p.G389R|NRXN1_uc021vhj.1_Missense_Mutation_p.G356R|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	360	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity	p.G393*(1)|p.G394*(1)|p.G360*(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			TTAAACTTTCCATTCACAGGC	0.458													T	50850508	C	T	50850508	3	4	197	1	0	0	0	0	1	0	0	0	10741	603	21	2	3801	2	NRXN1	2	50850508	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		50850508	192348865	12	13624											
PROM2	150696	broad.mit.edu	37	chr2	95947910	95947910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcaaggaaggggcagCgctctggacagtcctgcagc	9	5	16	11	1	1	0	0	0	1	0	2	2	2	2	1	4	4	5	1	4	2	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:95947910C>T	uc002suk.3	+	13	1797	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	PROM2_uc002suh.2_Missense_Mutation_p.A555V|PROM2_uc002sui.3_Missense_Mutation_p.A555V|PROM2_uc002suj.3_Missense_Mutation_p.A209V|PROM2_uc002sul.3_Missense_Mutation_p.A81V|PROM2_uc002sum.3_Non-coding_Transcript	NM_001165977	NP_653308	Q8N271	PROM2_HUMAN	Homo sapiens prominin 2 (PROM2), transcript variant 2, mRNA.	555						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAAGGGGCAGCGCTCTGGACA	0.627													T	95947910	C	T	95947910	3	4	197	1	0	0	0	0	1	0	0	0	12642	768	27	1	1718	1	PROM2	2	95947910	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	45097402	95947910	147251463	13	13625											
MCM6	4175	broad.mit.edu	37	chr2	136630337	136630337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtccacaaaactcacaaCcaatgtgtttctctcaggac	13	9	6	13	0	3	0	2	0	1	0	5	1	4	1	2	2	2	1	2	2	4	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:136630337C>G	uc002tuw.3	-	1	260	c.184G>C	c.(184-186)Gtt>Ctt	p.V62L		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	62					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AAACTCACAACCAATGTGTTT	0.403													G	136630337	C	G	136630337	3	3	197	1	0	0	0	0	1	0	0	0	9466	507	18	4	2345	4	MCM6	2	136630337	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	40682427	136630337	106569036	14	13626											
TTN	7273	broad.mit.edu	37	chr2	179458739	179458739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctgtactgttctccaCaaccacacagtatttgccgg	10	10	8	13	1	1	1	0	0	1	1	2	1	1	1	4	1	4	3	4	1	3	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:179458739C>T	uc021vsy.1	-	245	50902	c.50677G>A	c.(50677-50679)Gtg>Atg	p.V16893M	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V10588M|TTN_uc021vta.1_Missense_Mutation_p.V10521M|TTN_uc021vtb.1_Missense_Mutation_p.V10396M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17820	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTTCTCCACAACCACACAG	0.403													T	179458739	C	T	179458739	3	4	197	1	0	0	0	0	1	0	0	0	16837	478	17	2	49862	2	TTN	2	179458739	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	42828402	179458739	63740634	15	13627											
ALS2CR12	130540	broad.mit.edu	37	chr2	202216040	202216040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccctgtggagttcttgcGtggtagttgaggggtcttga	5	14	15	7	1	2	2	0	2	2	0	3	3	3	3	1	4	1	3	1	4	1	5	rs143899839		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:202216040G>A	uc010ftg.3	-	1	532	c.88C>T	c.(88-90)Cgc>Tgc	p.R30C	ALS2CR12_uc002uya.4_Missense_Mutation_p.R30C|ALS2CR12_uc010fth.3_Non-coding_Transcript	NM_139163	NP_631902	Q96Q35	AL2SB_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12 (ALS2CR12), transcript variant 1, mRNA.	30					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GAGTTCTTGCGTGGTAGTTGA	0.517													A	202216040	G	A	202216040	3	1	197	1	0	0	0	0	1	0	0	0	553	1145	40	1	1305	1	ALS2CR12	2	202216040	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	22757301	202216040	40983333	16	13628											
THAP4	51078	broad.mit.edu	37	chr2	242573479	242573479	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggattagacgttttgaGtcctttagggggaacctaca	10	13	11	7	1	0	2	0	1	0	1	1	4	1	4	2	3	2	1	2	3	4	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr2:242573479G>A	uc002wbt.3	-	1	386	c.93C>T	c.(91-93)gaC>gaT	p.D31D		NM_015963	NP_057047	Q8WY91	THAP4_HUMAN	Homo sapiens THAP domain containing 4 (THAP4), transcript variant 1, mRNA.	31							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		GACGTTTTGAGTCCTTTAGGG	0.353													A	242573479	G	A	242573479	2	1	197	1	0	0	0	0	0	0	0	1	15946	1020	36	2		2	THAP4	2	242573479	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	40357439	242573479	625894	17	13629											
FANCD2	2177	broad.mit.edu	37	chr3	10108908	10108908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagattgtaaatgccttcTgccaggaaacatcacctgag	12	10	9	10	0	2	2	1	1	1	1	2	3	2	3	3	1	4	2	3	1	3	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10108908T>C	uc003buw.3	+	25	2479	c.2401T>C	c.(2401-2403)Tgc>Cgc	p.C801R	FANCD2_uc003bux.1_Missense_Mutation_p.C801R|FANCD2_uc003buy.1_Missense_Mutation_p.C801R|FANCD2_uc010hcw.1_Non-coding_Transcript	NM_033084	NP_149075	Q9BXW9	FACD2_HUMAN	Homo sapiens Fanconi anemia, complementation group D2 (FANCD2), transcript variant 1, mRNA.	801					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAATGCCTTCTGCCAGGAAAC	0.378			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C	10108908	T	C	10108908	3	2	197	1	0	0	0	0	1	0	0	0	5714	1580	55	3	2499	3	FANCD2	3	10108908	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		10108908	187913522	18	13630											
IRAK2	3656	broad.mit.edu	37	chr3	10254939	10254939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacttttgagcttggctGgagacagccttttctggagt	10	13	11	7	0	1	2	0	1	1	1	1	4	1	3	1	3	3	2	1	3	2	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:10254939G>A	uc003bve.1	+	4	653	c.577G>A	c.(577-579)Gga>Aga	p.G193R		NM_001570	NP_001561	O43187	IRAK2_HUMAN	Homo sapiens interleukin-1 receptor-associated kinase 2 (IRAK2), mRNA.	193					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						GAGCTTGGCTGGAGACAGCCT	0.493													A	10254939	G	A	10254939	3	1	197	1	0	0	0	0	1	0	0	0	7881	1349	47	2	595	2	IRAK2	3	10254939	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	146031	10254939	187767491	19	13631											
FGD5	152273	broad.mit.edu	37	chr3	14862951	14862951	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaatatccagattccaccCcggagacctgccagggctgg	10	6	12	13	1	0	3	0	0	0	3	2	5	2	3	6	3	1	1	6	3	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:14862951C>A	uc003bzc.3	+	0	2483	c.2373C>A	c.(2371-2373)ccC>ccA	p.P791P	FGD5_uc011avk.2_Silent_p.P791P	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	791					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A791A(1)		NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGATTCCACCCCGGAGACCTG	0.537													A	14862951	C	A	14862951	2	1	197	1	0	0	0	0	0	0	0	1	5885	610	22	4		4	FGD5	3	14862951	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	4608012	14862951	183159479	20	13632											
XIRP1	165904	broad.mit.edu	37	chr3	39229284	39229284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgggtctcaaaaagccaCcgagctgtgccaacgtcccc	9	6	11	15	2	1	0	1	0	1	0	3	1	2	0	5	2	4	2	5	2	3	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:39229284C>T	uc003cjk.2	-	1	1882	c.1653G>A	c.(1651-1653)cgG>cgA	p.R551R	XIRP1_uc003cji.3_Silent_p.R551R|XIRP1_uc003cjj.3_Intron|XIRP1_uc021wvz.1_Silent_p.R551R	NM_194293	NP_919269	Q702N8	XIRP1_HUMAN	Homo sapiens xin actin-binding repeat containing 1 (XIRP1), transcript variant 1, mRNA.	551	Interaction with CTNNB1 (By similarity).		R -> Q (in dbSNP:rs34121641).				actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAAAAAGCCACCGAGCTGTGC	0.632													T	39229284	C	T	39229284	2	4	197	1	0	0	0	0	0	0	0	1	17531	494	18	2		2	XIRP1	3	39229284	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	24366333	39229284	158793146	21	13633											
IMPDH2	3615	broad.mit.edu	37	chr3	49062153	49062153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggatgccagcaatcaGgtaagggacaaatttgtgga	12	10	14	5	0	1	0	1	0	0	0	1	3	1	3	1	4	2	3	1	4	3	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:49062153G>A	uc003cvt.3	-	11	1470	c.1378C>T	c.(1378-1380)Ctg>Ttg	p.L460L		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	460					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	CCAGCAATCAGGTAAGGGACA	0.552													A	49062153	G	A	49062153	2	1	197	1	0	0	0	0	0	0	0	1	7785	991	35	2		2	IMPDH2	3	49062153	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	9832869	49062153	148960277	22	13634											
PBRM1	55193	broad.mit.edu	37	chr3	52595840	52595840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattctgtccccaccaggcGgctgagctccccgaaagagt	8	7	10	16	2	1	2	0	1	1	1	3	3	3	2	6	2	1	2	6	2	1	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:52595840G>A	uc003des.2	-	24	4243	c.4231C>T	c.(4231-4233)Cgc>Tgc	p.R1411C	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.R1411C|PBRM1_uc003der.2_Missense_Mutation_p.R1379C|PBRM1_uc003det.2_Missense_Mutation_p.R1426C|PBRM1_uc003deu.2_Missense_Mutation_p.R1426C|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.R1411C|PBRM1_uc010hmk.1_Missense_Mutation_p.R1386C|PBRM1_uc003dey.2_Missense_Mutation_p.R1359C|PBRM1_uc003dez.1_Missense_Mutation_p.R1410C	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1411					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCCACCAGGCGGCTGAGCTCC	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52595840	G	A	52595840	3	1	197	1	0	0	0	0	1	0	0	0	11567	1116	39	1	693	1	PBRM1	3	52595840	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	3533687	52595840	145426590	23	13635											
ATXN7	6314	broad.mit.edu	37	chr3	63981678	63981678	+	Frame_Shift_Del	DEL	C	C	-																															ctcttcctcctcctcctcttCttctcattccatggagtctt																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:63981678delC	uc003dlv.3	+	11	2733	c.2180delC	c.(2179-2181)tctfs	p.S727fs	ATXN7_uc003dlw.4_Frame_Shift_Del_p.S727fs|ATXN7_uc021wzy.1_Frame_Shift_Del_p.S727fs|ATXN7_uc011bfn.2_Frame_Shift_Del_p.S582fs	NM_000333	NP_000324	O15265	ATX7_HUMAN	Homo sapiens ataxin 7 (ATXN7), transcript variant SCA7a, mRNA.	727	Poly-Ser.|Ser-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		tcctcctcttcttcTCATTCC	0.512													-	63981678	C	-	63981678	7	5	197	1	0	1	0	1	0	0	0	0	1220	913	32	0	2286	0	ATXN7	3	63981678	Frame_Shift_Del	DEL	C	TCGA-27-2527-01A-01D-1494-08	11385838	63981678	134040752	24	13636											
FNDC3B	64778	broad.mit.edu	37	chr3	172065012	172065012	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctttccagagtcctgataGttctggtgctgacatctcag	7	13	10	11	0	2	3	1	2	2	1	5	3	4	3	3	1	1	2	3	1	1	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:172065012G>C	uc003fhy.3	+	20	2547	c.2375G>C	c.(2374-2376)aGt>aCt	p.S792T	FNDC3B_uc003fhz.4_Missense_Mutation_p.S792T	NM_022763	NP_073600	Q53EP0	FND3B_HUMAN	Homo sapiens fibronectin type III domain containing 3B (FNDC3B), transcript variant 1, mRNA.	792	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		AGTCCTGATAGTTCTGGTGCT	0.398													C	172065012	G	C	172065012	3	2	197	1	0	0	0	0	1	0	0	0	6019	1029	36	4	2453	4	FNDC3B	3	172065012	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	108083334	172065012	25957418	25	13637											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	197	1	0	0	0	0	1	0	0	0	11990	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08	6887073	178952085	19070345	26	13638											
IL1RAP	3556	broad.mit.edu	37	chr3	190345166	190345166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagttttctgatggattctcGcaatgaggtttggtggacca	8	15	12	6	1	2	2	0	2	2	0	3	4	2	4	1	4	0	3	1	4	2	5	rs138101360		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr3:190345166G>A	uc010hzg.2	+	8	1251	c.830G>A	c.(829-831)cGc>cAc	p.R277H	IL1RAP_uc003fsk.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsl.3_Missense_Mutation_p.R277H|IL1RAP_uc003fsm.2_Missense_Mutation_p.R277H|IL1RAP_uc003fso.2_Missense_Mutation_p.R277H|IL1RAP_uc003fsn.2_Non-coding_Transcript|IL1RAP_uc003fsp.2_Non-coding_Transcript|IL1RAP_uc003fsq.3_Missense_Mutation_p.R277H	NM_001167928	NP_002173	Q9NPH3	IL1AP_HUMAN	Homo sapiens interleukin 1 receptor accessory protein (IL1RAP), transcript variant 3, mRNA.	277	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		ATGGATTCTCGCAATGAGGTT	0.378													A	190345166	G	A	190345166	3	1	197	1	0	0	0	0	1	0	0	0	7718	1087	38	1	852	1	IL1RAP	3	190345166	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	11393081	190345166	7677264	27	13639											
UGT2B11	10720	broad.mit.edu	37	chr4	70079956	70079956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaccgtatgttaagtagcGcagccagcagctcaccacag	13	6	9	13	2	1	0	1	0	0	0	1	0	1	0	3	0	5	6	3	0	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:70079956G>A	uc003heh.3	-	0	494	c.485C>T	c.(484-486)gCg>gTg	p.A162V	AK124272_uc003hei.1_Intron	NM_001073	NP_001064	O75310	UDB11_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B11 (UGT2B11), mRNA.	162					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.A162V(2)|p.A162A(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GTTAAGTAGCGCAGCCAGCAG	0.423													A	70079956	G	A	70079956	3	1	197	1	0	0	0	0	1	0	0	0	17059	1087	38	1	1128	1	UGT2B11	4	70079956	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		70079956	121074320	28	13640											
ADAM29	11086	broad.mit.edu	37	chr4	175897289	175897289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgttgaaattgtagtcGtcattgataattatctgtac	11	17	9	4	1	2	2	1	2	1	0	3	3	2	3	0	1	1	3	0	1	5	8			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr4:175897289G>A	uc003iuc.3	+	4	1283	c.613G>A	c.(613-615)Gtc>Atc	p.V205I	ADAM29_uc003iud.3_Missense_Mutation_p.V205I|ADAM29_uc010irr.3_Missense_Mutation_p.V205I|ADAM29_uc011cki.2_Missense_Mutation_p.V205I|ADAM29_uc021xuo.1_Missense_Mutation_p.V205I	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	205	Peptidase M12B.		V -> I (in a colorectal cancer sample; somatic mutation).		proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding	p.V205I(4)|p.V204V(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		AATTGTAGTCGTCATTGATAA	0.348													A	175897289	G	A	175897289	3	1	197	1	0	0	0	0	1	0	0	0	247	1145	40	1	615	1	ADAM29	4	175897289	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	105817333	175897289	15256987	29	13641											
TMEM174	134288	broad.mit.edu	37	chr5	72469396	72469396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagtgaggaaagggtccCggactcggaacagacaccag	15	3	14	9	2	0	3	0	1	0	2	2	6	1	6	2	4	1	0	2	4	3	0	rs34059261	byFrequency	TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:72469396C>T	uc010izc.3	+	0	374	c.326C>T	c.(325-327)cCg>cTg	p.P109L		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	109						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAAAGGGTCCCGGACTCGGAA	0.527													T	72469396	C	T	72469396	3	4	197	1	0	0	0	0	1	0	0	0	16190	652	23	1	328	1	TMEM174	5	72469396	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		72469396	108445864	30	13642											
EGR1	1958	broad.mit.edu	37	chr5	137803019	137803019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctctgtctactattaaggCctttgccactcagtcgggct	6	13	8	14	1	3	0	1	0	2	0	4	0	3	0	3	2	2	1	3	2	3	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr5:137803019C>A	uc003ldb.1	+	1	1151	c.881C>A	c.(880-882)gCc>gAc	p.A294D		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	294					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627													A	137803019	C	A	137803019	3	1	197	1	0	0	0	0	1	0	0	0	5010	739	26	4	887	4	EGR1	5	137803019	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	65333623	137803019	43112241	31	13643											
DSP	1832	broad.mit.edu	37	chr6	7583937	7583937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttgccaaaagatgtcGccttggcccgggggctgatt	6	13	12	10	2	1	2	0	1	1	1	2	2	1	2	3	3	1	1	3	3	2	4	rs144539278		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:7583937G>A	uc003mxp.1	+	23	6721	c.6442G>A	c.(6442-6444)Gcc>Acc	p.A2148T	DSP_uc003mxq.1_Missense_Mutation_p.A1549T|DSP_uc021yle.1_Missense_Mutation_p.A1705T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2148	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAAGATGTCGCCTTGGCCCG	0.478													A	7583937	G	A	7583937	3	1	197	1	0	0	0	0	1	0	0	0	4820	1087	38	1	6536	1	DSP	6	7583937	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		7583937	163531130	32	13644											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860752	27860752	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccaggatctcggcagttAggtactccagcaccgccgcc	7	7	11	16	3	1	0	0	0	1	0	4	1	3	1	5	3	2	5	5	3	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:27860752A>T	uc003nkb.1	-	0	212	c.176T>A	c.(175-177)cTa>cAa	p.L59Q	HIST1H3J_uc003nka.3_5'Flank|HIST1H2BO_uc003nkc.1_5'Flank	NM_003514	NP_066408	P0C0S8	H2A1_HUMAN	Homo sapiens histone cluster 1, H2am (HIST1H2AM), mRNA.	59					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding	p.Y58H(1)|p.Y58N(1)		endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						CTCGGCAGTTAGGTACTCCAG	0.662													T	27860752	A	T	27860752	3	4	197	1	0	0	0	0	1	0	0	0	7194	420	15	5	220	5	HIST1H2AM	6	27860752	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08	20276815	27860752	143254315	33	13645											
NEU1	4758	broad.mit.edu	37	chr6	31830506	31830506	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagcccagaatccgcggCccccagcgtctgtccgggag	8	4	13	16	4	1	2	0	0	1	2	3	3	3	3	5	2	2	0	5	2	2	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:31830506C>T	uc003nxq.4	-	0	204	c.48G>A	c.(46-48)ggG>ggA	p.G16G		NM_000434	NP_000425	Q99519	NEUR1_HUMAN	Homo sapiens sialidase 1 (lysosomal sialidase) (NEU1), mRNA.	16						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GAATCCGCGGCCCCCAGCGTC	0.662													T	31830506	C	T	31830506	2	4	197	1	0	0	0	0	0	0	0	1	10417	726	26	2		2	NEU1	6	31830506	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	3969754	31830506	139284561	34	13646											
PKHD1	5314	broad.mit.edu	37	chr6	51751972	51751972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgagtgaaggaaagaagCggagcttgtgatgtttggtt	10	13	15	3	1	1	4	0	3	1	1	1	6	1	6	0	3	2	3	0	3	3	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:51751972C>T	uc003pah.1	-	43	7344	c.7068G>A	c.(7066-7068)ccG>ccA	p.P2356P	PKHD1_uc010jzn.1_Silent_p.P339P|PKHD1_uc003pai.3_Silent_p.P2356P	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2356					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.P2356P(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGGAAAGAAGCGGAGCTTGTG	0.388													T	51751972	C	T	51751972	2	4	197	1	0	0	0	0	0	0	0	1	12048	755	27	1		1	PKHD1	6	51751972	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	19921466	51751972	119363095	35	13647											
C6orf165	154313	broad.mit.edu	37	chr6	88170826	88170826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacacatactgccaccaacGattgtgagatcatatgagtg	14	9	8	10	1	1	2	1	2	0	1	1	4	1	2	2	0	3	0	2	0	3	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr6:88170826G>A	uc003plv.3	+	11	1704	c.1581G>A	c.(1579-1581)acG>acA	p.T527T	SLC35A1_uc003plx.3_Non-coding_Transcript|C6orf165_uc003plw.3_Silent_p.T339T|C6orf165_uc010kbv.2_Non-coding_Transcript	NM_001031743	NP_001026913	Q8IYR0	CF165_HUMAN	Homo sapiens chromosome 6 open reading frame 165 (C6orf165), mRNA.	527										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		TGCCACCAACGATTGTGAGAT	0.328													A	88170826	G	A	88170826	2	1	197	1	0	0	0	0	0	0	0	1	2363	1045	37	1		1	C6orf165	6	88170826	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	36418854	88170826	82944241	36	13648											
SDK1	221935	broad.mit.edu	37	chr7	4215452	4215452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctccacatcgacgaTgtgtgaactaacacgtaagt	13	8	9	11	3	0	1	0	1	0	0	2	3	1	1	1	0	4	3	1	0	3	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:4215452T>C	uc003smx.3	+	33	5121	c.4982T>C	c.(4981-4983)aTg>aCg	p.M1661T	SDK1_uc010kso.3_Intron|SDK1_uc003smy.3_Missense_Mutation_p.M148T	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1661	Fibronectin type-III 10.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		ACATCGACGATGTGTGAACTA	0.582													C	4215452	T	C	4215452	3	2	197	1	0	0	0	0	1	0	0	0	14061	1464	51	3	5116	3	SDK1	7	4215452	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		4215452	154923211	37	13649											
GPR141	353345	broad.mit.edu	37	chr7	37780665	37780665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccaccaggagttctgggctCagctgaaaaacctatttttt	10	12	8	11	0	2	1	1	1	1	0	2	2	2	2	3	2	2	3	3	2	3	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:37780665C>G	uc003tfm.1	+	0	670	c.670C>G	c.(670-672)Cag>Gag	p.Q224E	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	224						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Q224*(2)|p.Q224K(2)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTTCTGGGCTCAGCTGAAAAA	0.438													G	37780665	C	G	37780665	3	3	197	1	0	0	0	0	1	0	0	0	6703	827	29	4	672	4	GPR141	7	37780665	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	33565213	37780665	121357998	38	13650											
GLI3	2737	broad.mit.edu	37	chr7	42004153	42004153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcgtctatgatggcatcGaagtcaatctgtaccccttc	9	12	7	13	2	3	1	1	1	2	0	6	2	3	1	3	1	1	2	3	1	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:42004153G>A	uc011kbh.2	-	14	4609	c.4518C>T	c.(4516-4518)ttC>ttT	p.F1506F	GLI3_uc011kbg.2_Silent_p.F1447F	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1506	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGATGGCATCGAAGTCAATCT	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				A	42004153	G	A	42004153	2	1	197	1	0	0	0	0	0	0	0	1	6495	1049	37	1		1	GLI3	7	42004153	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	4223488	42004153	117134510	39	13651											
SEMA3E	9723	broad.mit.edu	37	chr7	83095907	83095907	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaacccgaacataatttGcacattcaccctaaagcagg	16	7	6	12	1	1	0	1	0	0	0	1	1	1	0	2	1	4	3	2	1	6	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:83095907G>T	uc003uhy.2	-	3	968	c.347C>A	c.(346-348)gCa>gAa	p.A116E	SEMA3E_uc022agy.1_Missense_Mutation_p.A56E	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	116	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AACATAATTTGCACATTCACC	0.388													T	83095907	G	T	83095907	3	4	197	1	0	0	0	0	1	0	0	0	14121	1319	46	4	2036	4	SEMA3E	7	83095907	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	41091754	83095907	76042756	40	13652											
SAMD9L	219285	broad.mit.edu	37	chr7	92763418	92763418	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagtcaccgattttagttTaaggatagtgctgtttacca	10	14	9	8	2	1	0	1	0	0	0	1	3	1	1	3	1	2	3	3	1	4	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:92763418T>G	uc003umh.1	-	4	3083	c.1867A>C	c.(1867-1869)Aaa>Caa	p.K623Q	SAMD9L_uc003umj.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umi.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfb.1_Missense_Mutation_p.K623Q|SAMD9L_uc003umk.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfc.1_Missense_Mutation_p.K623Q|SAMD9L_uc010lfd.1_Missense_Mutation_p.K623Q|SAMD9L_uc022ahh.1_Missense_Mutation_p.K623Q	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	623										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GATTTTAGTTTAAGGATAGTG	0.383													G	92763418	T	G	92763418	3	3	197	1	0	0	0	0	1	0	0	0	13918	1763	61	5	2891	5	SAMD9L	7	92763418	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	9667511	92763418	66375245	41	13653											
TRRAP	8295	broad.mit.edu	37	chr7	98581850	98581850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaaggactggtcaatgtaGctctggatatattaagtcgg	13	11	11	6	1	2	0	1	0	1	0	3	2	2	2	0	4	2	2	0	4	7	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:98581850G>A	uc003upp.3	+	59	9378	c.9169G>A	c.(9169-9171)Gct>Act	p.A3057T	TRRAP_uc011kis.2_Missense_Mutation_p.A3028T|TRRAP_uc003upr.3_Missense_Mutation_p.A2745T	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3057	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTCAATGTAGCTCTGGATAT	0.448													A	98581850	G	A	98581850	3	1	197	1	0	0	0	0	1	0	0	0	16702	971	34	2	9312	2	TRRAP	7	98581850	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	5818432	98581850	60556813	42	13654											
ZCWPW1	55063	broad.mit.edu	37	chr7	99998699	99998699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgtgctgcagctcccCgctctgccccagctctctcc	2	11	9	19	1	2	0	0	0	2	0	5	0	4	0	5	0	6	7	5	0	0	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr7:99998699C>T	uc003uut.3	-	17	2133	c.1885G>A	c.(1885-1887)Ggg>Agg	p.G629R	ZCWPW1_uc011kjq.2_Missense_Mutation_p.G509R|ZCWPW1_uc003uur.3_3'UTR|ZCWPW1_uc003uus.3_Missense_Mutation_p.G458R|ZCWPW1_uc011kjr.2_3'UTR|ZCWPW1_uc011kjp.2_Non-coding_Transcript	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	629							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGCAGCTCCCCGCTCTGCCCC	0.602													T	99998699	C	T	99998699	3	4	197	1	0	0	0	0	1	0	0	0	17698	652	23	1	65	1	ZCWPW1	7	99998699	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	1416849	99998699	59139964	43	13655											
NEFM	4741	broad.mit.edu	37	chr8	24772136	24772136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaaatccgctcccagcTcgaaagccactcagaccaga	14	4	9	14	2	1	2	1	0	0	2	4	5	3	3	4	1	2	2	4	1	3	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:24772136T>C	uc003xed.4	+	0	863	c.830T>C	c.(829-831)cTc>cCc	p.L277P	NEFM_uc011lac.1_Missense_Mutation_p.L277P|NEFM_uc010lue.3_5'Flank|AK308605_uc010luc.2_5'UTR	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	277	Coil 2A.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCTCCCAGCTCGAAAGCCAC	0.587													C	24772136	T	C	24772136	3	2	197	1	0	0	0	0	1	0	0	0	10392	1551	54	3	832	3	NEFM	8	24772136	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		24772136	121591886	44	13656											
ANK1	286	broad.mit.edu	37	chr8	41753935	41753935	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattcctccttctccttctGctcctggagggcctgcgcct	2	13	10	16	1	2	0	0	0	2	0	6	2	5	2	6	3	2	1	6	3	0	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:41753935G>C	uc003xom.3	-	0	346	c.64C>G	c.(64-66)Cag>Gag	p.Q22E		NM_001142446	NP_001135918	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 9, mRNA.	0	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.S22L(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTCTCCTTCTGCTCCTGGAGG	0.637													C	41753935	G	C	41753935	3	2	197	1	0	0	0	0	1	0	0	0	620	1328	46	4	6233	4	ANK1	8	41753935	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	16981799	41753935	104610087	45	13657											
RALYL	138046	broad.mit.edu	37	chr8	85774569	85774569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtgcctccacctccccGtgcagtaattccgctgaagc	6	9	10	16	3	0	1	0	1	0	0	3	1	3	1	6	0	3	3	6	0	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:85774569G>A	uc003yct.4	+	5	625	c.491G>A	c.(490-492)cGt>cAt	p.R164H	RALYL_uc003ycq.4_Missense_Mutation_p.R151H|RALYL_uc003ycr.4_Missense_Mutation_p.R151H|RALYL_uc003ycs.4_Missense_Mutation_p.R151H|RALYL_uc010lzy.3_Missense_Mutation_p.R140H|RALYL_uc003ycu.4_Missense_Mutation_p.R78H	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	151							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCACCTCCCCGTGCAGTAATT	0.498													A	85774569	G	A	85774569	3	1	197	1	0	0	0	0	1	0	0	0	13108	1145	40	1	513	1	RALYL	8	85774569	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	44020634	85774569	60589453	46	13658											
KCNS2	3788	broad.mit.edu	37	chr8	99440635	99440635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagcagagtgaccaggagaGcaccacgtcttccttcgatg	10	7	12	12	3	1	3	0	1	1	2	3	6	2	3	3	1	2	2	3	1	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr8:99440635G>A	uc003yin.3	+	1	778	c.428G>A	c.(427-429)aGc>aAc	p.S143N	KCNS2_uc022azb.1_Missense_Mutation_p.S143N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	143						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GACCAGGAGAGCACCACGTCT	0.582													A	99440635	G	A	99440635	3	1	197	1	0	0	0	0	1	0	0	0	8147	971	34	2	430	2	KCNS2	8	99440635	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	13666066	99440635	46923387	47	13659											
SNX30	401548	broad.mit.edu	37	chr9	115598647	115598647	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgcactcaaactgggaAccattgatcgaatagcccag	13	9	8	11	1	1	1	1	1	0	0	2	3	1	2	2	1	4	1	2	1	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr9:115598647A>T	uc004bgj.4	+	4	920	c.772A>T	c.(772-774)Acc>Tcc	p.T258S	SNX30_uc004bgi.4_5'Flank	NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	258					cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CAAACTGGGAACCATTGATCG	0.498													T	115598647	A	T	115598647	3	4	197	1	0	0	0	0	1	0	0	0	14994	43	2	5	790	5	SNX30	9	115598647	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		115598647	25614784	48	13660											
PDCD11	22984	broad.mit.edu	37	chr10	105176336	105176336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actacctgtcattacctgctAtgccgatgccaagcctggtc	8	11	8	14	1	1	0	1	0	0	0	2	1	1	0	5	1	6	1	5	1	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:105176336A>G	uc001kwy.1	+	12	1694	c.1607A>G	c.(1606-1608)tAt>tGt	p.Y536C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	536					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ATTACCTGCTATGCCGATGCC	0.493											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	105176336	A	G	105176336	3	3	197	1	0	0	0	0	1	0	0	0	11693	449	16	3	1653	3	PDCD11	10	105176336	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		105176336	30358411	49	13661											
KIAA1598	57698	broad.mit.edu	37	chr10	118671332	118671332	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttcatccactgcacttTcgcagcctttcgaagattct	8	15	6	12	2	2	1	1	0	1	1	5	2	3	1	2	0	2	3	2	0	2	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:118671332T>G	uc021pzk.1	-	13	1826	c.1328A>C	c.(1327-1329)gAa>gCa	p.E443A	KIAA1598_uc009xyw.3_Missense_Mutation_p.E443A|KIAA1598_uc001lcz.4_Missense_Mutation_p.E443A|KIAA1598_uc010qso.2_Missense_Mutation_p.E383A|KIAA1598_uc010qsp.1_Missense_Mutation_p.E443A|KIAA1598_uc010qsq.1_Missense_Mutation_p.E383A|KIAA1598_uc001lcy.4_Missense_Mutation_p.E413A	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	443					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		CACTGCACTTTCGCAGCCTTT	0.299													G	118671332	T	G	118671332	3	3	197	1	0	0	0	0	1	0	0	0	8304	1783	62	5	583	5	KIAA1598	10	118671332	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	13494996	118671332	16863415	50	13662											
CPXM2	119587	broad.mit.edu	37	chr10	125506512	125506512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctccagggttcaggaggCgccagtaatccccatcgttg	8	9	11	13	2	2	0	1	0	1	0	5	1	3	1	4	3	0	3	4	3	1	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr10:125506512C>T	uc001lhk.1	-	13	2364	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H	CPXM2_uc001lhj.3_Intron	NM_198148	NP_937791	Q8N436	CPXM2_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 2 (CPXM2), mRNA.	680					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.R680S(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GTTCAGGAGGCGCCAGTAATC	0.547													T	125506512	C	T	125506512	3	4	197	1	0	0	0	0	1	0	0	0	3869	768	27	1	235	1	CPXM2	10	125506512	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	6835180	125506512	10028235	51	13663											
HPS5	11234	broad.mit.edu	37	chr11	18309168	18309168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaagttgtatgatatcCgatggcaaaatggatggaaa	16	10	11	4	1	0	2	0	2	0	0	1	5	1	4	1	3	0	3	1	3	6	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:18309168C>T	uc001mod.1	-	17	2909	c.2631G>A	c.(2629-2631)tcG>tcA	p.S877S	HPS5_uc001moe.1_Silent_p.S763S|HPS5_uc001mof.1_Silent_p.S763S	NM_181507	NP_852609	Q9UPZ3	HPS5_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 5 (HPS5), transcript variant 1, mRNA.	877						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTATGATATCCGATGGCAAAA	0.408									Hermansky-Pudlak syndrome				T	18309168	C	T	18309168	2	4	197	1	0	0	0	0	0	0	0	1	7397	639	23	1		1	HPS5	11	18309168	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08		18309168	116697348	52	13664											
SLC5A12	159963	broad.mit.edu	37	chr11	26708091	26708091	+	Frame_Shift_Del	DEL	C	C	-																															acatcacgccaaataagagaCctgaaagaaagaaaaattac																										TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:26708091delC	uc001mra.2	-	10	1467	c.1154_splice	c.e10-1	p.C385_splice	SLC5A12_uc001mrb.2_Splice_Site	NM_178498	NP_848593	Q1EHB4	SC5AC_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 12 (SLC5A12), mRNA.	385					sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						AAATAAGAGACCTGAAAGAAA	0.453													-	26708091	C	-	26708091	7	5	197	1	0	1	0	1	0	0	0	0	14758	521	18	0	726	0	SLC5A12	11	26708091	Frame_Shift_Del	DEL	C	TCGA-27-2527-01A-01D-1494-08	8398923	26708091	108298425	53	13665											
EXT2	2132	broad.mit.edu	37	chr11	44129545	44129545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacgtgttttgatgtctatCgctgtggcttcaacccaaag	9	13	9	10	2	2	1	1	1	1	0	3	1	2	1	1	1	1	3	1	1	3	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:44129545C>T	uc001mya.3	+	1	438	c.382C>T	c.(382-384)Cgc>Tgc	p.R128C	EXT2_uc010rfo.2_Missense_Mutation_p.R123C|EXT2_uc009ykt.3_Missense_Mutation_p.R95C|EXT2_uc001mxz.3_Missense_Mutation_p.R95C	NM_000401	NP_000392	Q93063	EXT2_HUMAN	Homo sapiens exostosin 2 (EXT2), transcript variant 1, mRNA.	95					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity	p.R95C(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TGATGTCTATCGCTGTGGCTT	0.512			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				T	44129545	C	T	44129545	3	4	197	1	0	0	0	0	1	0	0	0	5366	884	31	1	388	1	EXT2	11	44129545	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	17421454	44129545	90876971	54	13666											
OR4A5	81318	broad.mit.edu	37	chr11	51412077	51412077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggaagacctcagcccCaccaaagaaatggtctataa	17	5	8	11	0	2	3	1	0	1	3	2	4	2	4	4	2	1	0	4	2	6	2	rs5002407		TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:51412077C>T	uc001nhi.2	-	0	372	c.319G>A	c.(319-321)Ggg>Agg	p.G107R		NM_001005272	NP_001005272	Q8NH83	OR4A5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 5 (OR4A5), mRNA.	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				ACCTCAGCCCCACCAAAGAAA	0.443													T	51412077	C	T	51412077	3	4	197	1	0	0	0	0	1	0	0	0	11119	594	21	2	632	2	OR4A5	11	51412077	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	7282532	51412077	83594439	55	13667											
MMP13	4322	broad.mit.edu	37	chr11	102816396	102816396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttctcatagacagcatCtactttatcaccaattcctg	11	16	3	11	0	3	1	2	0	2	1	5	1	4	1	2	0	2	1	2	0	4	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102816396C>A	uc001phl.3	-	8	1323	c.1294G>T	c.(1294-1296)Gat>Tat	p.D432Y		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	432	Hemopexin-like 4.				collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAGACAGCATCTACTTTATCA	0.328													A	102816396	C	A	102816396	3	1	197	1	0	0	0	0	1	0	0	0	9727	913	32	4	129	4	MMP13	11	102816396	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	51404319	102816396	32190120	56	13668											
MMP13	4322	broad.mit.edu	37	chr11	102826101	102826101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgttatcgtcaagtttgCcagtcacctctaagccgaag	10	11	10	10	2	3	0	2	0	1	0	4	1	3	0	3	1	2	2	3	1	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:102826101C>T	uc001phl.3	-	1	271	c.242G>A	c.(241-243)gGc>gAc	p.G81D		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	81					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		GTCAAGTTTGCCAGTCACCTC	0.473													T	102826101	C	T	102826101	3	4	197	1	0	0	0	0	1	0	0	0	9727	739	26	2	1209	2	MMP13	11	102826101	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	9705	102826101	32180415	57	13669											
OR10G8	219869	broad.mit.edu	37	chr11	123900834	123900834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttccatttgccctactgtGgacccaactggatccagcac	8	11	7	15	0	0	0	0	0	0	0	2	2	2	2	4	2	4	1	4	2	2	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr11:123900834G>A	uc001pzp.1	+	0	505	c.505G>A	c.(505-507)Gga>Aga	p.G169R		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G169A(1)		breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		GCCCTACTGTGGACCCAACTG	0.537													A	123900834	G	A	123900834	3	1	197	1	0	0	0	0	1	0	0	0	10979	1349	47	2	507	2	OR10G8	11	123900834	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	21074733	123900834	11105682	58	13670											
CACNA1C	775	broad.mit.edu	37	chr12	2716164	2716164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggggcaactacatcaCgtacaaagacggggaggttg	12	7	13	9	2	2	1	2	0	1	1	3	2	2	2	0	5	3	3	0	5	4	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:2716164C>T	uc009zdu.1	+	26	3597	c.3284C>T	c.(3283-3285)aCg>aTg	p.T1095M	CACNA1C_uc001qkc.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qjz.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkd.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qke.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkf.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdw.1_Missense_Mutation_p.T1075M|CACNA1C_uc001qkg.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkh.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkl.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkj.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkk.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkn.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkm.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qko.2_Missense_Mutation_p.T1095M|CACNA1C_uc001qkp.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkq.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qku.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkr.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qks.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qkt.2_Missense_Mutation_p.T1075M|CACNA1C_uc009zdv.1_Missense_Mutation_p.T1072M|CACNA1C_uc001qkb.2_Missense_Mutation_p.T1075M|CACNA1C_uc001qka.1_Missense_Mutation_p.T610M|CACNA1C_uc001qki.1_Missense_Mutation_p.T811M	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1095					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	AACTACATCACGTACAAAGAC	0.557													T	2716164	C	T	2716164	3	4	197	1	0	0	0	0	1	0	0	0	2566	536	19	1	3498	1	CACNA1C	12	2716164	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		2716164	131135731	59	13671											
C1S	716	broad.mit.edu	37	chr12	7174399	7174399	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagcaatggaaagtggagTaattccaaactgaaatgtca	18	8	9	6	0	1	1	1	1	0	0	2	3	2	3	1	2	2	2	1	2	6	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:7174399T>A	uc001qsj.3	+	11	1763	c.1044T>A	c.(1042-1044)agT>agA	p.S348R	C1S_uc001qsk.3_Missense_Mutation_p.S348R|C1S_uc001qsl.3_Missense_Mutation_p.S348R|C1S_uc009zfr.3_Missense_Mutation_p.S181R|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	348	Sushi 1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GAAAGTGGAGTAATTCCAAAC	0.368													A	7174399	T	A	7174399	3	1	197	1	0	0	0	0	1	0	0	0	1994	1635	57	5	1074	5	C1S	12	7174399	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08	4458235	7174399	126677496	60	13672											
SYT10	341359	broad.mit.edu	37	chr12	33538180	33538180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatacgcccagccgtcGgtaggtaacaaagggaaaac	14	6	11	10	3	1	0	1	0	0	0	2	1	1	1	2	3	4	2	2	3	6	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:33538180G>A	uc001rll.1	-	3	1421	c.1124C>T	c.(1123-1125)cCg>cTg	p.P375L	SYT10_uc009zju.1_Missense_Mutation_p.P185L	NM_198992	NP_945343	Q6XYQ8	SYT10_HUMAN	Homo sapiens synaptotagmin X (SYT10), mRNA.	375	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCCAGCCGTCGGTAGGTAACA	0.438													A	33538180	G	A	33538180	3	1	197	1	0	0	0	0	1	0	0	0	15563	1116	39	1	463	1	SYT10	12	33538180	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	26363781	33538180	100313715	61	13673											
C12orf68	387856	broad.mit.edu	37	chr12	48578422	48578422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctccttgggggggacgggCcacttgtggagcccctcgac	4	8	16	13	2	1	0	0	0	1	0	3	3	1	2	4	5	1	0	4	5	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:48578422C>T	uc001rrj.2	+	0	1057	c.517C>T	c.(517-519)Cca>Tca	p.P173S		NM_001013635	NP_001013657	Q52MB2	CL068_HUMAN	Homo sapiens chromosome 12 open reading frame 68 (C12orf68), mRNA.	173						cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)	4						GGGGGACGGGCCACTTGTGGA	0.662													T	48578422	C	T	48578422	3	4	197	1	0	0	0	0	1	0	0	0	1723	739	26	2	519	2	C12orf68	12	48578422	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	15040242	48578422	85273473	62	13674											
SCN8A	6334	broad.mit.edu	37	chr12	52180608	52180608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatacctggcccttcttcaaGtagtaagtagtgtttttgtt	8	17	9	7	0	2	0	1	0	1	0	2	1	2	0	2	1	1	5	2	1	5	9			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr12:52180608G>A	uc001ryw.3	+	21	4403	c.4225G>A	c.(4225-4227)Gta>Ata	p.V1409I	SCN8A_uc010snl.2_Missense_Mutation_p.V1368I|SCN8A_uc001rza.1_Non-coding_Transcript	NM_014191	NP_055006	Q9UQD0	SCN8A_HUMAN	Homo sapiens sodium channel, voltage gated, type VIII, alpha subunit (SCN8A), transcript variant 1, mRNA.	1409					axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTTCTTCAAGTAGTAAGTAG	0.403													A	52180608	G	A	52180608	3	1	197	1	0	0	0	0	1	0	0	0	14017	1029	36	2	4307	2	SCN8A	12	52180608	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08	3602186	52180608	81671287	63	13675											
KLHL1	57626	broad.mit.edu	37	chr13	70535514	70535514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgatctcctcttgcttgGcttcacaaacatcacttgta	8	17	5	11	0	4	1	2	1	2	0	5	1	4	1	1	1	2	3	1	1	2	7			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr13:70535514G>A	uc001vip.3	-	2	1537	c.743C>T	c.(742-744)gCc>gTc	p.A248V	KLHL1_uc010thm.2_Missense_Mutation_p.A187V	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	248	BTB.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CTCTTGCTTGGCTTCACAAAC	0.413													A	70535514	G	A	70535514	3	1	197	1	0	0	0	0	1	0	0	0	8423	1203	42	2	1539	2	KLHL1	13	70535514	Missense_Mutation	SNP	G	TCGA-27-2527-01A-01D-1494-08		70535514	44634364	64	13676											
SPTB	6710	broad.mit.edu	37	chr14	65245925	65245925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcagattagtgccatagtCggctgactgggccagaggca	9	9	14	9	1	0	3	0	1	0	2	1	3	0	3	2	3	2	3	2	3	2	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr14:65245925C>T	uc001xht.3	-	20	4564	c.4513G>A	c.(4513-4515)Gac>Aac	p.D1505N	SPTB_uc001xhr.3_Missense_Mutation_p.D1505N|SPTB_uc001xhs.3_Missense_Mutation_p.D1505N|SPTB_uc001xhu.3_Missense_Mutation_p.D1505N|SPTB_uc010aqi.3_Missense_Mutation_p.D166N	NM_000347	NP_000338	P11277	SPTB1_HUMAN	Homo sapiens spectrin, beta, erythrocytic (SPTB), transcript variant 2, mRNA.	1505					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GTGCCATAGTCGGCTGACTGG	0.587													T	65245925	C	T	65245925	3	4	197	1	0	0	0	0	1	0	0	0	15214	884	31	1	2602	1	SPTB	14	65245925	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		65245925	42103615	65	13677											
SPTBN5	51332	broad.mit.edu	37	chr15	42168354	42168354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgggtggcgagtagctcGctctcagctgcttcgtgccg	3	10	15	13	5	1	0	1	0	1	0	4	1	1	0	1	2	5	5	1	2	1	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:42168354G>A	uc001zos.3	-	20	4308	c.3975C>T	c.(3973-3975)agC>agT	p.S1325S		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1360					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CGAGTAGCTCGCTCTCAGCTG	0.622													A	42168354	G	A	42168354	2	1	197	1	0	0	0	0	0	0	0	1	15218	1078	38	1		1	SPTBN5	15	42168354	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08		42168354	60363038	66	13678											
HERC1	8925	broad.mit.edu	37	chr15	63948489	63948489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgccaagcacattaatCgaactagcgttcggatatct	11	11	8	11	3	1	0	0	0	1	0	3	2	1	1	1	1	5	3	1	1	5	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:63948489C>T	uc002amp.3	-	48	9816	c.9668G>A	c.(9667-9669)cGa>cAa	p.R3223Q		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	3223					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCACATTAATCGAACTAGCGT	0.532													T	63948489	C	T	63948489	3	4	197	1	0	0	0	0	1	0	0	0	7112	884	31	1	5037	1	HERC1	15	63948489	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	21780135	63948489	38582903	67	13679											
TMC3	342125	broad.mit.edu	37	chr15	81628948	81628948	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaagaaacggaaatacttAccttctaccatctgggcaac	17	8	6	10	1	2	1	0	0	2	1	2	2	2	2	2	2	5	1	2	2	8	4			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr15:81628948A>G	uc021ssk.1	-	20	2203	c.2203_splice	c.e20+1	p.A735_splice	TMC3_uc021ssj.1_Splice_Site|TMC3_uc010blr.1_Splice_Site	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	735				A -> AA (in Ref. 1; AAP78778).		integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GGAAATACTTACCTTCTACCA	0.428													G	81628948	A	G	81628948	5	3	197	1	0	0	0	0	0	0	1	0	16086	405	14	3	1109	3	TMC3	15	81628948	Splice_Site	SNP	A	TCGA-27-2527-01A-01D-1494-08	17680459	81628948	20902444	68	13680											
IL34	146433	broad.mit.edu	37	chr16	70693910	70693910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcttgcaggtaaacaaagCtccgtcctaaactggcagga	12	9	9	11	1	1	0	0	0	1	0	4	1	3	1	2	3	4	4	2	3	5	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr16:70693910C>A	uc002ezh.2	+	6	1104	c.549C>A	c.(547-549)agC>agA	p.S183R	IL34_uc002ezi.2_Missense_Mutation_p.S182R|IL34_uc021tkk.1_Missense_Mutation_p.S183R	NM_152456	NP_689669	Q6ZMJ4	IL34_HUMAN	Homo sapiens interleukin 34 (IL34), transcript variant 1, mRNA.	183					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTAAACAAAGCTCCGTCCTAA	0.562													A	70693910	C	A	70693910	3	1	197	1	0	0	0	0	1	0	0	0	7752	796	28	4	571	4	IL34	16	70693910	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		70693910	19660843	69	13681											
TTC25	83538	broad.mit.edu	37	chr17	40092757	40092757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attaagctggagaacaaaggGgacctctccttcttaagcaa	14	9	9	9	0	2	1	0	0	2	1	3	3	2	2	2	3	3	2	2	3	5	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:40092757G>A	uc002hyj.4	+	3	518	c.429G>A	c.(427-429)ggG>ggA	p.G143G	TTC25_uc021txp.1_Silent_p.G143G	NM_031421	NP_113609	Q96NG3	TTC25_HUMAN	Homo sapiens tetratricopeptide repeat domain 25 (TTC25), mRNA.	143						cytoplasm	protein binding			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12		all_cancers(22;8.16e-06)|Breast(137;0.000143)|all_epithelial(22;0.000236)				AGAACAAAGGGGACCTCTCCT	0.522													A	40092757	G	A	40092757	2	1	197	1	0	0	0	0	0	0	0	1	16795	1219	43	2		2	TTC25	17	40092757	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08		40092757	41102453	70	13682											
BZRAP1	9256	broad.mit.edu	37	chr17	56389930	56389930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggcccccgctactgctgCcacccccacctacactcagg	6	8	7	20	1	1	0	1	0	0	0	1	0	1	0	6	2	4	2	6	2	2	3			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr17:56389930C>G	uc002ivx.4	-	16	3123	c.2252G>C	c.(2251-2253)gGc>gCc	p.G751A	BZRAP1_uc010dcs.3_Missense_Mutation_p.G691A|BZRAP1_uc010wnt.2_Missense_Mutation_p.G751A	NM_004758	NP_004749	O95153	RIMB1_HUMAN	Homo sapiens benzodiazapine receptor (peripheral) associated protein 1 (BZRAP1), transcript variant 1, mRNA.	751						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTACTGCTGCCACCCCCACC	0.632													G	56389930	C	G	56389930	3	3	197	1	0	0	0	0	1	0	0	0	1587	739	26	4	3381	4	BZRAP1	17	56389930	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08	16297173	56389930	24805280	71	13683											
RYR1	6261	broad.mit.edu	37	chr19	38990280	38990280	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcgggtggccaggcgagAgcgtggaggagaacgccaat	10	4	18	9	4	0	2	0	0	0	2	0	5	0	3	2	5	3	0	2	5	2	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:38990280A>C	uc002oit.3	+	43	7163	c.7033A>C	c.(7033-7035)Agc>Cgc	p.S2345R	RYR1_uc002oiu.3_Missense_Mutation_p.S2345R|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2345	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCCAGGCGAGAGCGTGGAGGA	0.667													C	38990280	A	C	38990280	3	2	197	1	0	0	0	0	1	0	0	0	13859	304	11	5	7207	5	RYR1	19	38990280	Missense_Mutation	SNP	A	TCGA-27-2527-01A-01D-1494-08		38990280	20138703	72	13684											
CADM4	199731	broad.mit.edu	37	chr19	44130439	44130439	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctggctgctgctcacTcctgccacaccccggtcaga	5	11	8	17	1	2	1	2	0	0	1	4	1	4	1	5	2	3	3	5	2	0	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:44130439T>C	uc002oxc.1	-	5	549	c.500_splice	c.e5-1	p.G167_splice		NM_145296	NP_660339	Q8NFZ8	CADM4_HUMAN	Homo sapiens cell adhesion molecule 4 (CADM4), mRNA.	167	Ig-like C2-type 1.				cell adhesion	integral to membrane				endometrium(2)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	12		Prostate(69;0.0199)				TGCTGCTCACTCCTGCCACAC	0.592													C	44130439	T	C	44130439	2	2	197	1	0	0	0	0	0	0	0	1	2595	1565	54	3		3	CADM4	19	44130439	Silent	SNP	T	TCGA-27-2527-01A-01D-1494-08	5140159	44130439	14998544	73	13685											
EML2	24139	broad.mit.edu	37	chr19	46124852	46124852	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagagcccaaacacgccGccgtcgtgggcgcccagcac	8	2	13	18	6	0	1	0	0	0	1	1	1	0	1	4	1	3	2	4	1	1	0			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:46124852G>A	uc010xxm.2	-	12	1561	c.1488C>T	c.(1486-1488)ggC>ggT	p.G496G	EML2_uc002pcn.3_Silent_p.G295G|EML2_uc002pcp.3_Silent_p.G179G|EML2_uc002pco.3_Non-coding_Transcript|EML2_uc010xxl.2_Silent_p.G442G|EML2_uc010xxn.1_Non-coding_Transcript|EML2_uc010xxo.2_Silent_p.G295G|EML2_uc010ekj.3_Missense_Mutation_p.A262V	NM_001193268	NP_001180197	O95834	EMAL2_HUMAN	Homo sapiens echinoderm microtubule associated protein like 2 (EML2), transcript variant 1, mRNA.	295					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		CAAACACGCCGCCGTCGTGGG	0.687													A	46124852	G	A	46124852	2	1	197	1	0	0	0	0	0	0	0	1	5138	1074	38	1		1	EML2	19	46124852	Silent	SNP	G	TCGA-27-2527-01A-01D-1494-08	1994413	46124852	13004131	74	13686											
ZNF324B	388569	broad.mit.edu	37	chr19	58967238	58967238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcgcatccacagcggCgagacgccctacgcgtgccc	8	3	11	19	6	0	1	0	0	0	1	1	2	1	1	4	1	4	1	4	1	1	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr19:58967238C>T	uc002qsv.1	+	3	1034	c.927C>T	c.(925-927)ggC>ggT	p.G309G	ZNF324B_uc002qsu.1_Silent_p.G299G|ZNF324B_uc010euq.1_Silent_p.G309G	NM_207395	NP_997278	Q6AW86	Z324B_HUMAN	Homo sapiens zinc finger protein 324B (ZNF324B), mRNA.	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCCACAGCGGCGAGACGCCCT	0.687													T	58967238	C	T	58967238	2	4	197	1	0	0	0	0	0	0	0	1	17946	755	27	1		1	ZNF324B	19	58967238	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	12842386	58967238	161745	75	13687											
ADAMTS1	9510	broad.mit.edu	37	chr21	28212824	28212824	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttggcatcgtacgaggtgCcagggagatcgcctgggagc	7	7	18	9	3	0	1	0	0	0	1	2	4	0	2	2	5	3	3	2	5	1	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr21:28212824C>A	uc002ymf.3	-	4	1891	c.1436G>T	c.(1435-1437)gGc>gTc	p.G479V		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	479	Disintegrin.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		GTACGAGGTGCCAGGGAGATC	0.527													A	28212824	C	A	28212824	3	1	197	1	0	0	0	0	1	0	0	0	255	739	26	4	1487	4	ADAMTS1	21	28212824	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		28212824	19917071	76	13688											
PRAME	23532	broad.mit.edu	37	chr22	22893261	22893261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggtctccaggtgaagaTgttgtcccttcatcagcact	9	12	10	10	0	3	3	2	2	1	1	5	3	4	3	2	2	1	2	2	2	2	2			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chr22:22893261T>C	uc002zwf.3	-	2	428	c.272A>G	c.(271-273)cAt>cGt	p.H91R	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.H75R|PRAME_uc010gtr.3_Missense_Mutation_p.H91R|PRAME_uc002zwg.3_Missense_Mutation_p.H91R|PRAME_uc002zwh.3_Missense_Mutation_p.H91R|PRAME_uc002zwi.3_Missense_Mutation_p.H91R|PRAME_uc002zwj.3_Missense_Mutation_p.H91R|PRAME_uc002zwk.3_Missense_Mutation_p.H91R	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	91					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		CAGGTGAAGATGTTGTCCCTT	0.582													C	22893261	T	C	22893261	3	2	197	1	0	0	0	0	1	0	0	0	12506	1464	51	3	1269	3	PRAME	22	22893261	Missense_Mutation	SNP	T	TCGA-27-2527-01A-01D-1494-08		22893261	28411305	77	13689											
FRMD7	90167	broad.mit.edu	37	chrX	131212279	131212279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgattggctctgggacCttttaggggtttgctcttga	4	17	13	7	0	3	2	0	2	3	0	3	3	3	3	1	4	1	3	1	4	1	5			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:131212279C>A	uc004ewn.3	-	11	1944	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	FRMD7_uc022cdy.1_Missense_Mutation_p.R469M|FRMD7_uc011muy.2_Missense_Mutation_p.R574M	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	589					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GCTCTGGGACCTTTTAGGGGT	0.433													A	131212279	C	A	131212279	3	1	197	1	0	0	0	0	1	0	0	0	6107	681	24	4	382	4	FRMD7	23	131212279	Missense_Mutation	SNP	C	TCGA-27-2527-01A-01D-1494-08		131212279	24058281	78	13690											
GPR50	9248	broad.mit.edu	37	chrX	150349759	150349759	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcggcctctagccctgcCgctgggcccaccaagcctgc	5	6	12	18	2	1	0	0	0	1	0	2	1	1	0	6	2	4	1	6	2	2	1			TCGA-27-2527-01A-01D-1494-08	TCGA-27-2527-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8b00995-ada6-493b-bafc-0f6c9def41c9	42ed562f-33ed-4798-a495-42594968feff	g.chrX:150349759C>T	uc010ntg.2	+	1	1842	c.1704C>T	c.(1702-1704)gcC>gcT	p.A568A		NM_004224	NP_004215	Q13585	MTR1L_HUMAN	Homo sapiens G protein-coupled receptor 50 (GPR50), mRNA.	568	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CTAGCCCTGCCGCTGGGCCCA	0.602													T	150349759	C	T	150349759	2	4	197	1	0	0	0	0	0	0	0	1	6751	639	23	1		1	GPR50	23	150349759	Silent	SNP	C	TCGA-27-2527-01A-01D-1494-08	19137480	150349759	4920801	79	13691											
CELA3B	23436	broad.mit.edu	37	chr1	22313121	22313121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttggctgcaacacccGcaggaagcccacggtgttca	8	8	11	14	2	1	0	1	0	0	0	1	1	1	1	3	3	4	4	3	3	2	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:22313121G>A	uc001bfk.3	+	6	855	c.740G>A	c.(739-741)cGc>cAc	p.R247H	CELA3B_uc009vqf.3_Intron	NM_007352	NP_031378	P08861	CEL3B_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 3B (CELA3B), mRNA.	247	Peptidase S1.				cholesterol metabolic process|proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	8						TGCAACACCCGCAGGAAGCCC	0.622													A	22313121	G	A	22313121	3	1	198	1	0	0	0	0	1	0	0	0	3244	1087	38	1	766	1	CELA3B	1	22313121	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		22313121	226937500	1	13692											
ZNF683	257101	broad.mit.edu	37	chr1	26691223	26691223	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctccagcacctggatttcGggcctgggaaggcagagctt	8	8	14	11	1	0	1	0	0	0	1	2	3	1	3	3	4	3	4	3	4	1	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:26691223G>A	uc001bmg.1	-	3	932	c.814C>T	c.(814-816)Cga>Tga	p.R272*	ZNF683_uc001bmh.1_Nonsense_Mutation_p.R272*|ZNF683_uc009vsj.1_Nonsense_Mutation_p.R272*	NM_173574	NP_775845	Q8IZ20	ZN683_HUMAN	Homo sapiens zinc finger protein 683 (ZNF683), transcript variant 2, mRNA.	272					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		CCTGGATTTCGGGCCTGGGAA	0.652													A	26691223	G	A	26691223	4	1	198	1	0	0	0	0	0	1	0	0	18191	1124	39	1	712	1	ZNF683	1	26691223	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	4378102	26691223	222559398	2	13693											
SPTA1	6708	broad.mit.edu	37	chr1	158614117	158614117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtctaaggaacttttgtCatctgacctcagggaattct	10	14	8	9	0	5	1	2	1	3	0	5	3	5	3	1	2	1	0	1	2	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:158614117C>T	uc001fst.1	-	29	4463	c.4264G>A	c.(4264-4266)Gac>Aac	p.D1422N		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1422					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACTTTTGTCATCTGACCTC	0.443													T	158614117	C	T	158614117	3	4	198	1	0	0	0	0	1	0	0	0	15212	826	29	2	3087	2	SPTA1	1	158614117	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	131922894	158614117	90636504	3	13694											
CNTN2	6900	broad.mit.edu	37	chr1	205033757	205033758	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtccttgccacagagtgacTgtaactccagatggcacctt																										TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:205033757_205033758delTG	uc001hbr.3	+	11	1667_1668	c.1398_1399delTG	c.(1396-1401)actgtafs	p.T466fs	CNTN2_uc001hbq.1_Frame_Shift_Del_p.T357fs|CNTN2_uc001hbs.3_Frame_Shift_Del_p.T254fs	NM_005076	NP_005067	Q02246	CNTN2_HUMAN	Homo sapiens contactin 2 (axonal) (CNTN2), mRNA.	466	Ig-like C2-type 5.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			ACAGAGTGACTGTAACTCCAGA	0.525													-	205033758	TG	-	205033757	7	5	198	1	0	1	0	1	0	0	0	0	3672	1567	55	0	1440	0	CNTN2	1	205033757	Frame_Shift_Del	DEL	TG	TCGA-27-2528-01A-01D-1494-08	46419640	205033757	44216864	4	13695											
OBSCN	84033	broad.mit.edu	37	chr1	228468436	228468436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacgtgagccctgaagaCgccggcctgtacacctgcca	9	6	11	15	3	0	4	0	3	0	1	0	4	0	4	5	1	3	1	5	1	2	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr1:228468436C>T	uc009xez.1	+	29	8180	c.8136C>T	c.(8134-8136)gaC>gaT	p.D2712D	OBSCN_uc001hsn.3_Silent_p.D2712D|OBSCN_uc001hsp.1_Silent_p.D411D|OBSCN_uc001hsq.1_5'UTR	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	2712	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GCCCTGAAGACGCCGGCCTGT	0.692													T	228468436	C	T	228468436	2	4	198	1	0	0	0	0	0	0	0	1	10888	535	19	1		1	OBSCN	1	228468436	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	23434679	228468436	20782185	5	13696											
SLC4A5	57835	broad.mit.edu	37	chr2	74479508	74479508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgctagggagaacaCagatttcctggaagagaagg	13	7	13	8	0	1	3	0	0	1	3	2	6	2	4	1	3	3	2	1	3	4	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:74479508C>T	uc002sko.1	-	10	1278	c.1276G>A	c.(1276-1278)Gtg>Atg	p.V426M	SLC4A5_uc002skl.3_Non-coding_Transcript|SLC4A5_uc002skn.3_Missense_Mutation_p.V426M|SLC4A5_uc010ffc.1_Missense_Mutation_p.V426M|SLC4A5_uc002skp.1_Missense_Mutation_p.V362M|SLC4A5_uc002sks.1_Missense_Mutation_p.V426M	NM_021196	NP_067019	Q9BY07	S4A5_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate cotransporter, member 5 (SLC4A5), transcript variant a, mRNA.	426						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGGAGAACACAGATTTCCTG	0.552													T	74479508	C	T	74479508	3	4	198	1	0	0	0	0	1	0	0	0	14751	478	17	2	2201	2	SLC4A5	2	74479508	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		74479508	168719865	6	13697											
UGGT1	56886	broad.mit.edu	37	chr2	128935427	128935427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcagaagaaggcagatatgGtgaacgaagacttgctgagt	14	9	13	5	1	1	6	1	2	0	4	1	7	1	6	0	2	2	2	0	2	5	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:128935427G>A	uc002tps.3	+	32	3824	c.3646G>A	c.(3646-3648)Gtg>Atg	p.V1216M	UGGT1_uc002tpr.3_Missense_Mutation_p.V1192M	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1216					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GGCAGATATGGTGAACGAAGA	0.398													A	128935427	G	A	128935427	3	1	198	1	0	0	0	0	1	0	0	0	17043	1261	44	2	3776	2	UGGT1	2	128935427	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	54455919	128935427	114263946	7	13698											
SP110	3431	broad.mit.edu	37	chr2	231067312	231067312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccctctgatctcgactttCgggcacattcagttctcgcc	6	13	7	15	3	4	1	1	1	3	0	7	2	4	1	2	1	1	2	2	1	1	4	rs144163010		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:231067312C>T	uc002vqg.3	-	8	1271	c.1031G>A	c.(1030-1032)cGa>cAa	p.R344Q	SP110_uc002vqh.3_Missense_Mutation_p.R344Q|SP110_uc002vqi.4_Missense_Mutation_p.R344Q|SP110_uc010fxk.3_Missense_Mutation_p.R342Q|SP110_uc021vxx.1_Missense_Mutation_p.R350Q|SP110_uc010fxj.3_Intron	NM_080424	NP_536349	Q9HB58	SP110_HUMAN	Homo sapiens SP110 nuclear body protein (SP110), transcript variant c, mRNA.	344					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		TCTCGACTTTCGGGCACATTC	0.478													T	231067312	C	T	231067312	3	4	198	1	0	0	0	0	1	0	0	0	15055	884	31	1	1218	1	SP110	2	231067312	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	102131885	231067312	12132061	8	13699											
KIF1A	547	broad.mit.edu	37	chr2	241657468	241657468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcaggcggccctaccGtatggtcccggccaggaggg	5	5	16	15	3	0	0	0	0	0	0	1	1	1	1	5	6	2	2	5	6	2	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr2:241657468G>A	uc010fzk.3	-	48	5580	c.5333_splice	c.e48+1	p.R1778_splice	KIF1A_uc002vzy.3_Splice_Site_p.R1677_splice|KIF1A_uc002vzw.3_Splice_Site_p.R338_splice|KIF1A_uc002vzx.3_Splice_Site_p.R404_splice	NM_001244008	NP_001230937	Q12756	KIF1A_HUMAN	Homo sapiens kinesin family member 1A (KIF1A), transcript variant 1, mRNA.	1677					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CGGCCCTACCGTATGGTCCCG	0.662													A	241657468	G	A	241657468	3	1	198	1	0	0	0	0	1	0	0	0	8341	1159	40	1	51	1	KIF1A	2	241657468	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	10590156	241657468	1541905	9	13700											
WDR48	57599	broad.mit.edu	37	chr3	39126186	39126186	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgctgcctgggtttcTgcaaaagatgctggtttcag	6	16	12	7	0	2	1	1	0	1	1	2	1	2	1	1	2	4	6	1	2	2	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr3:39126186T>G	uc003cit.3	+	12	1342	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	WDR48_uc011ayt.1_Silent_p.S435S|WDR48_uc011ayu.1_Silent_p.S362S|WDR48_uc011ayv.1_Silent_p.S169S|WDR48_uc003ciu.3_Non-coding_Transcript	NM_020839	NP_065890	Q8TAF3	WDR48_HUMAN	Homo sapiens WD repeat domain 48 (WDR48), mRNA.	444					interspecies interaction between organisms|protein deubiquitination	lysosome|nucleus	protein binding			breast(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CCTGGGTTTCTGCAAAAGATG	0.363													G	39126186	T	G	39126186	2	3	198	1	0	0	0	0	0	0	0	1	17403	1567	55	5		5	WDR48	3	39126186	Silent	SNP	T	TCGA-27-2528-01A-01D-1494-08		39126186	158896244	10	13701											
FBXL5	26234	broad.mit.edu	37	chr4	15626935	15626935	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagaaacagaagtacacgtCcagtctcttgatcagatttt	13	12	8	8	1	2	4	1	2	1	3	4	5	3	4	1	0	2	1	1	0	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:15626935C>A	uc003goc.2	-	8	1915	c.1790G>T	c.(1789-1791)gGa>gTa	p.G597V	FBXL5_uc010idw.2_Missense_Mutation_p.G510V|FBXL5_uc003gob.2_Missense_Mutation_p.G459V|FBXL5_uc010idx.2_Missense_Mutation_p.G596V|FBXL5_uc003god.2_Missense_Mutation_p.G580V|FBXL5_uc010idy.2_Missense_Mutation_p.G597V	NM_012161	NP_036293	Q9UKA1	FBXL5_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 5 (FBXL5), transcript variant 1, mRNA.	597					iron ion homeostasis|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|SCF ubiquitin ligase complex	iron ion binding|protein binding|ubiquitin-protein ligase activity			endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13						AAGTACACGTCCAGTCTCTTG	0.393													A	15626935	C	A	15626935	3	1	198	1	0	0	0	0	1	0	0	0	5771	855	30	4	297	4	FBXL5	4	15626935	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		15626935	175527341	11	13702											
NIPAL1	152519	broad.mit.edu	37	chr4	48037778	48037778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagtttacaaacatccGctggtctttgttttgctggc	8	14	9	10	1	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	3	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:48037778G>A	uc003gxw.3	+	5	888	c.822G>A	c.(820-822)ccG>ccA	p.P274P		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	274						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428													A	48037778	G	A	48037778	2	1	198	1	0	0	0	0	0	0	0	1	10500	1074	38	1		1	NIPAL1	4	48037778	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08	32410843	48037778	143116498	12	13703											
BMP3	651	broad.mit.edu	37	chr4	81967723	81967723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtagactttgcagatattgGctggagtgaatggattatct	10	14	13	4	0	1	3	0	1	1	2	1	5	1	5	0	4	1	3	0	4	4	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:81967723G>T	uc003hmg.4	+	1	1468	c.1148G>T	c.(1147-1149)gGc>gTc	p.G383V		NM_001201	NP_001192	P12645	BMP3_HUMAN	Homo sapiens bone morphogenetic protein 3 (BMP3), mRNA.	383					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						GCAGATATTGGCTGGAGTGAA	0.478													T	81967723	G	T	81967723	3	4	198	1	0	0	0	0	1	0	0	0	1467	1203	42	4	1154	4	BMP3	4	81967723	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	33929945	81967723	109186553	13	13704											
NDST4	64579	broad.mit.edu	37	chr4	115998108	115998108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtagagaaaataggcagAaatgacaatgctcaccaagc	19	5	10	7	0	1	4	1	1	0	3	1	5	1	4	1	1	2	3	1	1	7	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr4:115998108A>G	uc003ibu.3	-	1	764	c.85T>C	c.(85-87)Tct>Cct	p.S29P	NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	29						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		AAATAGGCAGAAATGACAATG	0.358													G	115998108	A	G	115998108	3	3	198	1	0	0	0	0	1	0	0	0	10334	246	9	3	2585	3	NDST4	4	115998108	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	34030385	115998108	75156168	14	13705											
RAI14	26064	broad.mit.edu	37	chr5	34811182	34811182	+	Frame_Shift_Del	DEL	G	G	-																															gagatctgtcactttctcctGgatcatggagcagatgtcaa																										TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:34811182delG	uc003jis.3	+	9	1064	c.525delG	c.(523-525)ctgfs	p.L175fs	RAI14_uc003jir.3_Frame_Shift_Del_p.L172fs|RAI14_uc010iur.3_Frame_Shift_Del_p.L172fs|RAI14_uc011coj.2_Frame_Shift_Del_p.L172fs|RAI14_uc010ius.1_Frame_Shift_Del_p.L101fs|RAI14_uc003jit.3_Frame_Shift_Del_p.L172fs|RAI14_uc011cok.2_Frame_Shift_Del_p.L164fs	NM_001145525	NP_001138997	Q9P0K7	RAI14_HUMAN	Homo sapiens retinoic acid induced 14 (RAI14), transcript variant 6, mRNA.	172						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					ACTTTCTCCTGGATCATGGAG	0.418													-	34811182	G	-	34811182	7	5	198	1	0	1	0	1	0	0	0	0	13096	1335	47	0	607	0	RAI14	5	34811182	Frame_Shift_Del	DEL	G	TCGA-27-2528-01A-01D-1494-08		34811182	146104078	15	13706											
UGT3A2	167127	broad.mit.edu	37	chr5	36035914	36035914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagaaacacaaaaacgtcGagcaggtactgctcatgcca	16	5	9	11	2	1	1	1	0	0	1	2	2	1	1	1	1	7	4	1	1	4	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:36035914G>A	uc003jjz.2	-	6	1590	c.1458C>T	c.(1456-1458)ctC>ctT	p.L486L	UGT3A2_uc011cos.2_Silent_p.L452L|UGT3A2_uc011cot.2_Silent_p.L184L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	486				L -> F (in Ref. 1; AAQ88782).		integral to membrane	glucuronosyltransferase activity	p.L486I(1)		NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAAAAACGTCGAGCAGGTACT	0.612													A	36035914	G	A	36035914	2	1	198	1	0	0	0	0	0	0	0	1	17066	1045	37	1		1	UGT3A2	5	36035914	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08	1224732	36035914	144879346	16	13707											
SLCO6A1	133482	broad.mit.edu	37	chr5	101816115	101816115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaatcgccaatgctgaCatctataagaccaaacacca	17	7	5	12	1	1	3	0	2	1	1	2	3	1	3	3	0	2	1	3	0	6	2	rs111320089	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:101816115C>T	uc003knn.3	-	1	554	c.382G>A	c.(382-384)Gtc>Atc	p.V128I	SLCO6A1_uc003kno.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knp.3_Missense_Mutation_p.V128I|SLCO6A1_uc003knq.3_Missense_Mutation_p.V128I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	128						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCAATGCTGACATCTATAAGA	0.328													T	101816115	C	T	101816115	3	4	198	1	0	0	0	0	1	0	0	0	14826	478	17	2	1825	2	SLCO6A1	5	101816115	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	65780201	101816115	79099145	17	13708											
PCDHB5	26167	broad.mit.edu	37	chr5	140516912	140516912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcggccaagcacaggct	8	3	16	14	5	0	1	0	1	0	0	0	3	0	1	2	3	4	4	2	3	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:140516912C>T	uc003liq.3	+	0	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692													T	140516912	C	T	140516912	2	4	198	1	0	0	0	0	0	0	0	1	11621	755	27	1		1	PCDHB5	5	140516912	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	38700797	140516912	40398348	18	13709											
ABLIM3	22885	broad.mit.edu	37	chr5	148586637	148586637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctggacaagcagtggcAcgtcagctgcttcaagtgcc	8	8	13	12	1	3	0	2	0	1	0	3	1	3	1	1	3	4	5	1	3	2	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:148586637A>G	uc003lpy.2	+	5	766	c.515A>G	c.(514-516)cAc>cGc	p.H172R	ABLIM3_uc003lpz.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqa.1_Missense_Mutation_p.H180R|ABLIM3_uc003lqb.3_Missense_Mutation_p.H172R|ABLIM3_uc003lqc.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqd.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqe.1_Missense_Mutation_p.H172R|ABLIM3_uc003lqf.3_Missense_Mutation_p.H172R	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	172	LIM zinc-binding 3.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGCAGTGGCACGTCAGCTGC	0.612													G	148586637	A	G	148586637	3	3	198	1	0	0	0	0	1	0	0	0	96	159	6	3	533	3	ABLIM3	5	148586637	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	8069725	148586637	32328623	19	13710											
GABRA1	2554	broad.mit.edu	37	chr5	161300296	161300296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaacatgaccatgcccaaCaaactcctgcggatcacaga	15	5	6	15	1	1	2	1	1	0	1	2	3	2	3	3	1	5	0	3	1	3	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:161300296C>A	uc010jiw.3	+	5	897	c.429C>A	c.(427-429)aaC>aaA	p.N143K	GABRA1_uc010jix.3_Missense_Mutation_p.N143K|GABRA1_uc010jiy.3_Missense_Mutation_p.N143K|GABRA1_uc003lyx.4_Missense_Mutation_p.N143K|GABRA1_uc010jiz.3_Missense_Mutation_p.N143K|GABRA1_uc010jja.3_Missense_Mutation_p.N143K|GABRA1_uc010jjb.3_Missense_Mutation_p.N143K	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	143					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCATGCCCAACAAACTCCTGC	0.473													A	161300296	C	A	161300296	3	1	198	1	0	0	0	0	1	0	0	0	6212	477	17	4	443	4	GABRA1	5	161300296	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	12713659	161300296	19614964	20	13711											
RARS	5917	broad.mit.edu	37	chr5	167919770	167919770	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcatatccagatttggAaaatcctcctctgctagtga	10	12	9	10	0	1	2	0	1	1	1	4	3	4	3	3	2	2	3	3	2	4	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr5:167919770A>G	uc003lzx.3	+	2	328	c.287A>G	c.(286-288)gAa>gGa	p.E96G	RARS_uc011deo.2_5'UTR	NM_002887	NP_002878	P54136	SYRC_HUMAN	Homo sapiens arginyl-tRNA synthetase (RARS), mRNA.	96					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CCAGATTTGGAAAATCCTCCT	0.418													G	167919770	A	G	167919770	3	3	198	1	0	0	0	0	1	0	0	0	13146	246	9	3	297	3	RARS	5	167919770	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	6619474	167919770	12995490	21	13712											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184206	26184207	+	In_Frame_Ins	INS	-	-	ATC																															tctcctctaaagccatggggINSatcatgaattcctttgtcaa																										TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:26184206_26184207insATC	uc003ngt.3	+	0	183_184	c.183_184insATC	c.(181-186)insATC	p.62_63insI		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	62					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						AAGCCATGGGGATCATGAATTC	0.574													ATC	26184207	-	ATC	26184206	7	5	198	1	0	1	1	0	0	0	0	0	7199	1161	41	0	185	0	HIST1H2BE	6	26184206	In_Frame_Ins	INS	-	TCGA-27-2528-01A-01D-1494-08		26184206	144930861	22	13713											
SLC35D3	340146	broad.mit.edu	37	chr6	137245675	137245675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagcaggcaagaggtcagGggcagcccccgaggagtccc	10	2	17	12	1	1	2	1	0	0	2	2	5	2	3	3	5	2	3	3	5	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:137245675G>T	uc003qhe.3	+	1	1257	c.1092G>T	c.(1090-1092)agG>agT	p.R364S		NM_001008783	NP_001008783	Q5M8T2	S35D3_HUMAN	Homo sapiens solute carrier family 35, member D3 (SLC35D3), mRNA.	364					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		AAGAGGTCAGGGGCAGCCCCC	0.637													T	137245675	G	T	137245675	3	4	198	1	0	0	0	0	1	0	0	0	14677	1223	43	4	1098	4	SLC35D3	6	137245675	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	111061469	137245675	33869392	23	13714											
SYNE1	23345	broad.mit.edu	37	chr6	152751311	152751311	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattttaattggaacagcaAgtttatcttcaaattcagac	15	15	5	6	0	3	1	2	0	1	1	3	2	3	2	0	1	2	2	0	1	6	8			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr6:152751311A>T	uc021zhb.1	-	33	4947	c.4724T>A	c.(4723-4725)cTt>cAt	p.L1575H	SYNE1_uc003qot.4_Missense_Mutation_p.L1582H|SYNE1_uc003qou.4_Missense_Mutation_p.L1575H|SYNE1_uc010kjb.1_Missense_Mutation_p.L1558H|SYNE1_uc003qow.3_Missense_Mutation_p.L870H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	1575					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)		TGGAACAGCAAGTTTATCTTC	0.303										HNSCC(10;0.0054)			T	152751311	A	T	152751311	3	4	198	1	0	0	0	0	1	0	0	0	15542	72	3	5	22186	5	SYNE1	6	152751311	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	15505636	152751311	18363756	24	13715											
C7orf26	79034	broad.mit.edu	37	chr7	6630085	6630085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgttccaggtgcccaaGgagcgcagcgcgcagcccaa	8	6	13	14	4	0	0	0	0	0	0	2	1	1	1	3	2	4	3	3	2	2	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:6630085G>C	uc003sqo.1	+	0	171	c.171G>C	c.(169-171)aaG>aaC	p.K57N	DQ579268_uc021zzi.1_5'Flank|C7orf26_uc003sqp.1_Missense_Mutation_p.K57N	NM_024067	NP_076972	Q96N11	CG026_HUMAN	Homo sapiens chromosome 7 open reading frame 26 (C7orf26), mRNA.	57										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		AGGTGCCCAAGGAGCGCAGCG	0.701													C	6630085	G	C	6630085	3	2	198	1	0	0	0	0	1	0	0	0	2405	991	35	4	173	4	C7orf26	7	6630085	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		6630085	152508578	25	13716											
DNAH11	8701	broad.mit.edu	37	chr7	21603893	21603893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggaattcccacagacaCgcatattaatcgctccatta	14	9	6	12	3	0	2	0	0	0	2	3	3	2	3	2	1	0	2	2	1	4	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:21603893C>T	uc003svc.3	+	5	1103	c.1072C>T	c.(1072-1074)Cgc>Tgc	p.R358C		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	358	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R358R(1)		NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCACAGACACGCATATTAAT	0.443									Kartagener syndrome				T	21603893	C	T	21603893	3	4	198	1	0	0	0	0	1	0	0	0	4638	536	19	1	1094	1	DNAH11	7	21603893	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	14973808	21603893	137534770	26	13717											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	198	1	0	0	0	0	1	0	0	0	5006	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	33616381	55220274	103918389	27	13718											
SPAM1	6677	broad.mit.edu	37	chr7	123593667	123593667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatctttttcagaagctttGttaaatcaagtggagtatcc	12	15	7	7	0	3	1	2	0	1	1	4	2	4	2	1	1	1	3	1	1	5	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:123593667G>A	uc003vle.3	+	2	482	c.43G>A	c.(43-45)Gtt>Att	p.V15I	SPAM1_uc011koa.1_5'Flank|SPAM1_uc003vld.3_Missense_Mutation_p.V15I|SPAM1_uc022aks.1_Missense_Mutation_p.V15I|SPAM1_uc003vlf.4_Missense_Mutation_p.V15I|SPAM1_uc010lku.3_Missense_Mutation_p.V15I	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	15					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	CAGAAGCTTTGTTAAATCAAG	0.373													A	123593667	G	A	123593667	3	1	198	1	0	0	0	0	1	0	0	0	15082	1377	48	2	45	2	SPAM1	7	123593667	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	68373393	123593667	35544996	28	13719											
CUL1	8454	broad.mit.edu	37	chr7	148484161	148484161	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgccaagaggctcgtccaCcagaacagtgcaagtgacga	12	5	11	13	3	0	3	0	1	0	2	3	4	1	3	3	1	2	2	3	1	3	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr7:148484161C>G	uc010lpg.3	+	12	1954	c.1428C>G	c.(1426-1428)caC>caG	p.H476Q	CUL1_uc003wey.3_Missense_Mutation_p.H476Q|CUL1_uc003wez.3_Missense_Mutation_p.H366Q|CUL1_uc003wfa.3_Missense_Mutation_p.H137Q	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	476					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGCTCGTCCACCAGAACAGTG	0.448													G	148484161	C	G	148484161	3	3	198	1	0	0	0	0	1	0	0	0	4087	506	18	4	1474	4	CUL1	7	148484161	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	24890494	148484161	10654502	29	13720											
ENG	2022	broad.mit.edu	37	chr9	130579436	130579436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagctcaccagacaggTcagggctgatgatgttcaag	11	7	15	8	0	3	3	3	2	0	1	3	5	3	4	1	3	1	3	1	3	1	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:130579436T>C	uc004bsj.4	-	12	2146	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	ENG_uc011mam.2_Missense_Mutation_p.D389G|ENG_uc004bsk.4_Missense_Mutation_p.D578G|AK057719_uc004bsl.1_Non-coding_Transcript	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	578					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ACCAGACAGGTCAGGGCTGAT	0.572									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				C	130579436	T	C	130579436	3	2	198	1	0	0	0	0	1	0	0	0	5158	1667	58	3	281	3	ENG	9	130579436	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		130579436	10633995	30	13721											
CACNA1B	774	broad.mit.edu	37	chr9	141006952	141006952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttgctggtaccaccccAtaagcgtaagtgtgagggtg	9	9	14	9	1	0	1	0	1	0	0	0	2	0	2	3	3	3	3	3	3	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr9:141006952A>G	uc004cog.3	+	38	5670	c.5525A>G	c.(5524-5526)cAt>cGt	p.H1842R	CACNA1B_uc022bqn.1_Missense_Mutation_p.H1842R|CACNA1B_uc004coi.3_Missense_Mutation_p.H1056R|CACNA1B_uc004cok.1_Non-coding_Transcript|CACNA1B_uc010ncp.1_Missense_Mutation_p.H124R	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1844					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTACCACCCCATAAGCGTAAG	0.577													G	141006952	A	G	141006952	3	3	198	1	0	0	0	0	1	0	0	0	2565	217	8	3	5685	3	CACNA1B	9	141006952	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	10427516	141006952	206479	31	13722											
JMJD1C	221037	broad.mit.edu	37	chr10	64954062	64954062	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccagaaccaggtataatTtgggttggcattaaatgttt	12	15	9	5	0	0	1	0	0	0	1	0	1	0	1	2	3	2	4	2	3	6	7			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:64954062T>A	uc001jmn.3	-	13	6018	c.5718A>T	c.(5716-5718)caA>caT	p.Q1906H	JMJD1C_uc001jml.3_Missense_Mutation_p.Q1687H|JMJD1C_uc001jmm.3_Missense_Mutation_p.Q1618H|JMJD1C_uc010qiq.2_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpi.3_Missense_Mutation_p.Q1724H|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc009xpk.1_Missense_Mutation_p.Q804H	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	1906					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CAGGTATAATTTGGGTTGGCA	0.333													A	64954062	T	A	64954062	3	1	198	1	0	0	0	0	1	0	0	0	8008	1838	64	5	1956	5	JMJD1C	10	64954062	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		64954062	70580685	32	13723											
PDCD11	22984	broad.mit.edu	37	chr10	105204397	105204397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagatgtctggtcggtctAtatcgacatgaccatcaagc	11	10	9	11	2	3	2	1	1	2	1	5	3	3	2	1	2	1	0	1	2	3	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr10:105204397A>G	uc001kwy.1	+	34	5489	c.5402A>G	c.(5401-5403)tAt>tGt	p.Y1801C		NM_014976	NP_055791	Q14690	RRP5_HUMAN	Homo sapiens programmed cell death 11 (PDCD11), mRNA.	1801					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTCGGTCTATATCGACATG	0.597													G	105204397	A	G	105204397	3	3	198	1	0	0	0	0	1	0	0	0	11693	449	16	3	5536	3	PDCD11	10	105204397	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	40250335	105204397	30330350	33	13724											
CHID1	66005	broad.mit.edu	37	chr11	902312	902312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaaagaccttggtgacatCgtagccatggctgttccact	9	10	9	13	1	0	2	0	1	0	1	2	2	1	2	4	2	1	3	4	2	2	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:902312C>T	uc010qwu.1	-	3	483	c.370G>A	c.(370-372)Gat>Aat	p.D124N	CHID1_uc010qwv.2_Missense_Mutation_p.D155N|CHID1_uc001lsn.3_Missense_Mutation_p.D119N|CHID1_uc001lso.3_Missense_Mutation_p.D94N|CHID1_uc001lsm.3_Missense_Mutation_p.D94N|CHID1_uc001lsp.3_Missense_Mutation_p.D94N|CHID1_uc010qww.2_Missense_Mutation_p.D94N	NM_023947	NP_076436	Q9BWS9	CHID1_HUMAN	Homo sapiens chitinase domain containing 1 (CHID1), transcript variant 3, mRNA.	94					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity	p.T124M(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TTGGTGACATCGTAGCCATGG	0.562													T	902312	C	T	902312	3	4	198	1	0	0	0	0	1	0	0	0	3375	884	31	1	941	1	CHID1	11	902312	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		902312	134104204	34	13725											
WT1	7490	broad.mit.edu	37	chr11	32413578	32413578	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggaccgggagaactttcGctgacaagttttacactgga	10	10	12	9	3	0	2	0	1	0	1	2	5	0	4	1	3	2	2	1	3	3	3	rs121907909		TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:32413578G>A	uc001mtn.2	-	8	1562	c.1372C>T	c.(1372-1374)Cga>Tga	p.R458*	WT1_uc001mtl.2_Nonsense_Mutation_p.R246*|WT1_uc001mtm.2_Nonsense_Mutation_p.R229*|WT1_uc001mto.2_Nonsense_Mutation_p.R458*|WT1_uc001mtq.2_Nonsense_Mutation_p.R441*|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	390					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R390*(9)|p.V380_S410del(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GAGAACTTTCGCTGACAAGTT	0.458			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				A	32413578	G	A	32413578	4	1	198	1	0	0	0	0	0	1	0	0	17510	1095	38	1	189	1	WT1	11	32413578	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	31511266	32413578	102592938	35	13726											
OR5W2	390148	broad.mit.edu	37	chr11	55681478	55681478	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataacactaactcattgAcctgtgtatctgagcgagag	13	11	9	8	1	2	4	1	3	1	1	2	5	2	4	1	0	3	1	1	0	4	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:55681478A>T	uc010rir.2	-	0	581	c.581T>A	c.(580-582)gTc>gAc	p.V194D		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q193K(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAACTCATTGACCTGTGTATC	0.393													T	55681478	A	T	55681478	3	4	198	1	0	0	0	0	1	0	0	0	11261	275	10	5	353	5	OR5W2	11	55681478	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	23267900	55681478	79325038	36	13727											
ATM	472	broad.mit.edu	37	chr11	108143569	108143572	+	Frame_Shift_Del	DEL	TCAA	TCAA	-																															ttcgcatgttggctgcagagTcaatcaataggtaatgggtc																										TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr11:108143569_108143572delTCAA	uc001pkb.1	+	21	3659_3662	c.3274_3277delTCAA	c.(3274-3279)tcaatcfs	p.S1092fs	ATM_uc009yxr.1_Frame_Shift_Del_p.S1092fs	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1092					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGCTGCAGAGTCAATCAATAGGTA	0.363			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			-	108143572	TCAA	-	108143569	7	5	198	1	0	1	0	1	0	0	0	0	1114	1667	58	0	3356	0	ATM	11	108143569	Frame_Shift_Del	DEL	TCAA	TCGA-27-2528-01A-01D-1494-08	52462091	108143569	26862947	37	13728											
FOXM1	2305	broad.mit.edu	37	chr12	2975658	2975658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcccggacaaacatgtcGtgcagggaaaggttgtggcg	9	8	15	9	3	1	0	0	0	1	0	3	2	1	2	1	4	2	2	1	4	2	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:2975658G>A	uc001qlf.3	-	4	1159	c.876C>T	c.(874-876)caC>caT	p.H292H	FOXM1_uc001qle.3_Silent_p.H292H|FOXM1_uc009zea.3_Silent_p.H291H|FOXM1_uc009zeb.3_Silent_p.H291H|FOXM1_uc001qlg.3_Silent_p.H292H	NM_021953	NP_068772	Q08050	FOXM1_HUMAN	Homo sapiens forkhead box M1 (FOXM1), transcript variant 2, mRNA.	292					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			CAAACATGTCGTGCAGGGAAA	0.502													A	2975658	G	A	2975658	2	1	198	1	0	0	0	0	0	0	0	1	6069	1136	40	1		1	FOXM1	12	2975658	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08		2975658	130876237	38	13729											
FAM90A1	55138	broad.mit.edu	37	chr12	8376154	8376154	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgcgggtcttgtggcCtgcagaacagaaaaaggtca	10	9	12	10	1	3	2	1	0	2	2	4	2	4	2	2	3	3	1	2	3	3	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:8376154C>T	uc001qui.2	-	6	883	c.324_splice	c.e6-1	p.R108_splice	FAM90A1_uc001quh.2_Splice_Site_p.R108_splice	NM_018088	NP_060558	Q86YD7	F90A1_HUMAN	Homo sapiens family with sequence similarity 90, member A1 (FAM90A1), mRNA.	108							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		GTCTTGTGGCCTGCAGAACAG	0.542													T	8376154	C	T	8376154	5	4	198	1	0	0	0	0	0	0	1	0	5699	695	24	2	1079	2	FAM90A1	12	8376154	Splice_Site	SNP	C	TCGA-27-2528-01A-01D-1494-08	5400496	8376154	125475741	39	13730											
PTPRO	5800	broad.mit.edu	37	chr12	15650274	15650274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attatccagaaaaatataacGttttcacaagagtgaacatt	18	12	5	6	1	1	3	1	1	0	2	2	3	2	3	1	0	2	1	1	0	7	6			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:15650274G>A	uc001rcv.2	+	2	915	c.445G>A	c.(445-447)Gtt>Att	p.V149I	PTPRO_uc001rcw.2_Missense_Mutation_p.V149I|PTPRO_uc001rcu.2_Missense_Mutation_p.V149I	NM_030667	NP_109592	Q16827	PTPRO_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, O (PTPRO), transcript variant 1, mRNA.	149	Fibronectin type-III 2.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				AAAATATAACGTTTTCACAAG	0.378													A	15650274	G	A	15650274	3	1	198	1	0	0	0	0	1	0	0	0	12897	1145	40	1	455	1	PTPRO	12	15650274	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	7274120	15650274	118201621	40	13731											
ANP32D	23519	broad.mit.edu	37	chr12	48866783	48866783	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagagcccctgaaaaagttAgaaaacctcgagagcttaga	17	7	9	8	1	0	5	0	1	0	4	1	6	0	5	3	0	3	2	3	0	7	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:48866783A>C	uc010slt.2	+	0	336	c.336A>C	c.(334-336)ttA>ttC	p.L112F		NM_012404	NP_036536	O95626	AN32D_HUMAN	Homo sapiens acidic (leucine-rich) nuclear phosphoprotein 32 family, member D (ANP32D), mRNA.	112								p.L112_E113>*(2)		central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						TGAAAAAGTTAGAAAACCTCG	0.408													C	48866783	A	C	48866783	3	2	198	1	0	0	0	0	1	0	0	0	708	417	15	5	338	5	ANP32D	12	48866783	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	33216509	48866783	84985112	41	13732											
NR4A1	3164	broad.mit.edu	37	chr12	52451031	52451031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagctcttcatcctccGcctggcgtacaggtgagagc	6	9	12	14	2	2	1	1	1	1	1	4	3	4	2	4	3	3	2	4	3	1	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr12:52451031G>A	uc001rzs.3	+	5	1668	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	NR4A1_uc010sno.2_Missense_Mutation_p.R463H|NR4A1_uc001rzt.3_Missense_Mutation_p.R450H|NR4A1_uc009zmc.3_Missense_Mutation_p.A64T	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	450	Ligand-binding (Potential).				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TTCATCCTCCGCCTGGCGTAC	0.612													A	52451031	G	A	52451031	3	1	198	1	0	0	0	0	1	0	0	0	10708	1087	38	1	1363	1	NR4A1	12	52451031	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	3584248	52451031	81400864	42	13733											
EFS	10278	broad.mit.edu	37	chr14	23829158	23829158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccagggggctgcggggCaacccgggtcagagggtggg	5	5	20	11	2	2	1	1	0	1	1	3	1	2	1	2	7	2	2	2	7	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr14:23829158C>T	uc001wjo.3	-	3	1137	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	EFS_uc001wjp.3_Missense_Mutation_p.A84T|EFS_uc010tnm.2_Missense_Mutation_p.A84T	NM_005864	NP_005855	O43281	EFS_HUMAN	Homo sapiens embryonal Fyn-associated substrate (EFS), transcript variant 1, mRNA.	177	Pro-rich.				cell adhesion|intracellular signal transduction	cytoplasm	SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)	16	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00649)		GGCTGCGGGGCAACCCGGGTC	0.652													T	23829158	C	T	23829158	3	4	198	1	0	0	0	0	1	0	0	0	4998	710	25	2	1168	2	EFS	14	23829158	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08		23829158	83520382	43	13734											
CPPED1	55313	broad.mit.edu	37	chr16	12798557	12798557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtagtcgtcgtcctcgtcGatgctctccaggaacagcgg	7	10	12	12	5	1	0	0	0	1	0	7	2	2	1	2	2	3	2	2	2	3	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr16:12798557G>A	uc002dca.4	-	2	750	c.639C>T	c.(637-639)atC>atT	p.I213I	CPPED1_uc002dcb.4_Intron	NM_018340	NP_060810	Q9BRF8	CPPED_HUMAN	Homo sapiens calcineurin-like phosphoesterase domain containing 1 (CPPED1), transcript variant 1, mRNA.	213							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						CGTCCTCGTCGATGCTCTCCA	0.602													A	12798557	G	A	12798557	2	1	198	1	0	0	0	0	0	0	0	1	3853	1048	37	1		1	CPPED1	16	12798557	Silent	SNP	G	TCGA-27-2528-01A-01D-1494-08		12798557	77556196	44	13735											
EFNB3	1949	broad.mit.edu	37	chr17	7612770	7612770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggatagctctgcggggtgGcggggctgcagatcccccct	5	7	17	12	2	1	1	0	0	1	1	2	2	2	2	3	6	3	3	3	6	1	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7612770G>A	uc002gis.3	+	4	1296	c.899G>A	c.(898-900)gGc>gAc	p.G300D		NM_001406	NP_001397	Q15768	EFNB3_HUMAN	Homo sapiens ephrin-B3 (EFNB3), mRNA.	300					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				CTGCGGGGTGGCGGGGCTGCA	0.667													A	7612770	G	A	7612770	3	1	198	1	0	0	0	0	1	0	0	0	4996	1203	42	2	917	2	EFNB3	17	7612770	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		7612770	73582440	45	13736											
DNAH2	146754	broad.mit.edu	37	chr17	7626952	7626952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattcttcctagagccacGgttggagggacctcaagcac	9	11	10	11	1	2	1	1	0	1	1	3	3	3	3	3	3	2	2	3	3	3	6			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:7626952G>A	uc002giu.1	+	1	187	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	DNAH2_uc002git.3_Missense_Mutation_p.R58Q|DNAH2_uc010vuk.2_Missense_Mutation_p.R58Q	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	58	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTAGAGCCACGGTTGGAGGGA	0.512													A	7626952	G	A	7626952	3	1	198	1	0	0	0	0	1	0	0	0	4641	1116	39	1	179	1	DNAH2	17	7626952	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	14182	7626952	73568258	46	13737											
ULK2	9706	broad.mit.edu	37	chr17	19705231	19705231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttggaccttcgtaccactgCagatctgaaaagtaaattat	13	12	8	8	1	1	2	0	1	1	1	2	3	1	3	2	1	2	4	2	1	6	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:19705231C>T	uc002gwm.4	-	15	1809	c.1300G>A	c.(1300-1302)Gca>Aca	p.A434T	ULK2_uc002gwn.3_Missense_Mutation_p.A434T	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	434					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CGTACCACTGCAGATCTGAAA	0.468													T	19705231	C	T	19705231	3	4	198	1	0	0	0	0	1	0	0	0	17078	710	25	2	1858	2	ULK2	17	19705231	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	12078279	19705231	61489979	47	13738											
UNC45B	146862	broad.mit.edu	37	chr17	33482349	33482349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgcagtgcggatagaccGaatctgtagcctcatggccg	9	8	13	11	3	2	1	1	0	1	1	2	3	2	2	3	2	3	3	3	2	3	2			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:33482349G>A	uc002hja.3	+	6	771	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	UNC45B_uc002hjb.3_Missense_Mutation_p.R225Q|UNC45B_uc002hjc.3_Missense_Mutation_p.R225Q|UNC45B_uc010cto.3_Missense_Mutation_p.R225Q	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	225					cell differentiation|muscle organ development	cytosol	binding	p.R225Q(2)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CGGATAGACCGAATCTGTAGC	0.562													A	33482349	G	A	33482349	3	1	198	1	0	0	0	0	1	0	0	0	17091	1058	37	1	696	1	UNC45B	17	33482349	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	13777118	33482349	47712861	48	13739											
RNF43	54894	broad.mit.edu	37	chr17	56439918	56439918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccggcctgctgtggCgggggcggcaccggatgcgc	3	6	18	14	5	1	0	1	0	0	0	1	1	1	1	3	6	3	3	3	6	0	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:56439918C>T	uc002iwf.3	-	4	2630	c.674G>A	c.(673-675)cGc>cAc	p.R225H	RNF43_uc010wnv.2_Missense_Mutation_p.R184H|RNF43_uc002iwh.4_Missense_Mutation_p.R225H|RNF43_uc002iwg.4_Missense_Mutation_p.R225H|RNF43_uc010dcw.3_Missense_Mutation_p.R98H	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	225				R -> H (in Ref. 2; BAH12429).		endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCTGTGGCGGGGGCGGCA	0.597													T	56439918	C	T	56439918	3	4	198	1	0	0	0	0	1	0	0	0	13586	768	27	1	1697	1	RNF43	17	56439918	Missense_Mutation	SNP	C	TCGA-27-2528-01A-01D-1494-08	22957569	56439918	24755292	49	13740											
BPTF	2186	broad.mit.edu	37	chr17	65889572	65889572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaatatcaacaattatttTaaattgggtcaagaagggaa	18	11	9	3	0	2	1	2	0	0	1	2	3	2	3	0	3	1	0	0	3	10	5			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr17:65889572T>C	uc002jgf.3	+	5	2203	c.2142T>C	c.(2140-2142)ttT>ttC	p.F714F	BPTF_uc002jge.3_Silent_p.F840F|BPTF_uc010wqm.1_Silent_p.F777F	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	840	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ACAATTATTTTAAATTGGGTC	0.373													C	65889572	T	C	65889572	2	2	198	1	0	0	0	0	0	0	0	1	1504	1751	61	3		3	BPTF	17	65889572	Silent	SNP	T	TCGA-27-2528-01A-01D-1494-08	9449654	65889572	15305638	50	13741											
DSC1	1823	broad.mit.edu	37	chr18	28736074	28736074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaataggagcccatcGtctcttgctgcgcttgaggg	7	10	14	10	2	1	1	0	1	1	0	3	3	1	3	1	3	4	3	1	3	2	3			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:28736074G>A	uc002kwn.3	-	3	665	c.403C>T	c.(403-405)Cga>Tga	p.R135*	DSC1_uc002kwm.3_Nonsense_Mutation_p.R135*	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	135	Cadherin 1.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			GGAGCCCATCGTCTCTTGCTG	0.413													A	28736074	G	A	28736074	4	1	198	1	0	0	0	0	0	1	0	0	4804	1153	40	1	2373	1	DSC1	18	28736074	Nonsense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		28736074	49341174	51	13742											
ALPK2	115701	broad.mit.edu	37	chr18	56171191	56171191	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcaccaggaggcagccActtgttttctggtacaccca	8	10	9	14	1	2	0	1	0	1	0	3	1	3	1	4	3	2	3	4	3	1	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:56171191A>C	uc002lhj.4	-	10	6433	c.6219T>G	c.(6217-6219)agT>agG	p.S2073R		NM_052947	NP_443179	Q86TB3	ALPK2_HUMAN	Homo sapiens alpha-kinase 2 (ALPK2), mRNA.	2073	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						GGAGGCAGCCACTTGTTTTCT	0.522													C	56171191	A	C	56171191	3	2	198	1	0	0	0	0	1	0	0	0	545	156	6	5	305	5	ALPK2	18	56171191	Missense_Mutation	SNP	A	TCGA-27-2528-01A-01D-1494-08	27435117	56171191	21906057	52	13743											
SERPINB2	5273	broad.mit.edu	37	chr18	61585273	61585273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaaatcctcaagcccaaCgatgactacttacttaaaac	16	9	4	12	1	2	2	2	1	0	1	3	3	3	2	2	0	5	0	2	0	7	3	rs61761878	byFrequency	TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr18:61585273C>T	uc010xev.2	+	3	399	c.309C>T	c.(307-309)aaC>aaT	p.N103N	SERPINB2_uc010xew.2_Silent_p.N103N	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	118					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TCAAGCCCAACGATGACTACT	0.353													T	61585273	C	T	61585273	2	4	198	1	0	0	0	0	0	0	0	1	14194	535	19	1		1	SERPINB2	18	61585273	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08	5414082	61585273	16491975	53	13744											
C3	718	broad.mit.edu	37	chr19	6681977	6681977	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggtagatgatgagggtgTtcctatcggagaaggctttg	9	11	15	6	1	0	4	0	2	0	2	2	5	1	4	2	4	0	3	2	4	3	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:6681977T>G	uc002mfm.3	-	34	4387	c.4325A>C	c.(4324-4326)aAc>aCc	p.N1442T		NM_000064	NP_000055	P01024	CO3_HUMAN	Homo sapiens complement component 3 (C3), mRNA.	1442	Properdin-binding.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GATGAGGGTGTTCCTATCGGA	0.532													G	6681977	T	G	6681977	3	3	198	1	0	0	0	0	1	0	0	0	2225	1725	60	5	694	5	C3	19	6681977	Missense_Mutation	SNP	T	TCGA-27-2528-01A-01D-1494-08		6681977	52447006	54	13745											
LILRA1	11027	broad.mit.edu	37	chr19	55086977	55086977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcacacaacctctcctccGagtggtcggcccccagtgac	7	7	10	17	2	1	1	0	1	1	0	4	2	2	1	5	2	2	1	5	2	1	0			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr19:55086977G>A	uc010ern.3	+	5	1379	c.910G>A	c.(910-912)Gag>Aag	p.E304K	LILRA1_uc002qgg.4_Missense_Mutation_p.E304K|LILRA1_uc002qgf.3_Missense_Mutation_p.E304K|LILRA1_uc010yfe.1_Missense_Mutation_p.E304K|LILRA1_uc010yff.1_Missense_Mutation_p.E292K|LILRA1_uc010ero.3_Missense_Mutation_p.E292K|LILRA1_uc010yfg.1_Intron			O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2 (LILRA2), transcript variant 2, mRNA.	306	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CCTCTCCTCCGAGTGGTCGGC	0.677													A	55086977	G	A	55086977	3	1	198	1	0	0	0	0	1	0	0	0	8844	1059	37	1		1	LILRA1	19	55086977	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08	48405000	55086977	4042006	55	13746											
NTSR1	4923	broad.mit.edu	37	chr20	61386135	61386135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggtacgccaggcggcCgagcagggccaagtgtgcac	8	5	16	12	3	1	0	1	0	0	0	1	1	1	0	3	4	3	3	3	4	2	1			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chr20:61386135C>T	uc002ydf.3	+	1	1184	c.813C>T	c.(811-813)gcC>gcT	p.A271A		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	271						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled	p.A270S(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCAGGCGGCCGAGCAGGGCC	0.632													T	61386135	C	T	61386135	2	4	198	1	0	0	0	0	0	0	0	1	10786	639	23	1		1	NTSR1	20	61386135	Silent	SNP	C	TCGA-27-2528-01A-01D-1494-08		61386135	1639385	56	13747											
CXorf22	170063	broad.mit.edu	37	chrX	35938122	35938122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgtgcataatatttgccGctggaaccagaaaatccgat	13	11	8	9	2	0	1	0	0	0	1	1	3	1	2	3	1	4	2	3	1	6	4			TCGA-27-2528-01A-01D-1494-08	TCGA-27-2528-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	374cbd87-428e-4509-85c1-b7d3302c30a0	ba315999-bdef-4b98-8207-7653987bc717	g.chrX:35938122G>A	uc004ddj.3	+	0	272	c.206G>A	c.(205-207)cGc>cAc	p.R69H	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	69										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AATATTTGCCGCTGGAACCAG	0.582													A	35938122	G	A	35938122	3	1	198	1	0	0	0	0	1	0	0	0	4135	1087	38	1	208	1	CXorf22	23	35938122	Missense_Mutation	SNP	G	TCGA-27-2528-01A-01D-1494-08		35938122	119332438	57	13748											
CLCA1	1179	broad.mit.edu	37	chr1	86954794	86954794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagtggtgccatcatccAcacagtcgctttggggccct	9	9	10	13	1	1	0	1	0	0	0	3	0	2	0	3	3	1	1	3	3	1	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:86954794A>G	uc001dlt.3	+	7	1558	c.1298A>G	c.(1297-1299)cAc>cGc	p.H433R	CLCA1_uc001dls.1_Missense_Mutation_p.H372R	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	433	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity	p.I432I(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GCCATCATCCACACAGTCGCT	0.498													G	86954794	A	G	86954794	3	3	199	1	0	0	0	0	1	0	0	0	3488	159	6	3	1328	3	CLCA1	1	86954794	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08		86954794	162295827	1	13749											
DCLRE1B	64858	broad.mit.edu	37	chr1	114454356	114454356	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagagaaactttctccctGgcctgcggaccttgaaaagc	12	8	10	11	1	1	2	0	1	1	1	2	5	1	3	3	2	3	0	3	2	4	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:114454356G>A	uc001eeg.3	+	3	1436	c.1142G>A	c.(1141-1143)tGg>tAg	p.W381*	DCLRE1B_uc001eeh.3_Nonsense_Mutation_p.W255*|DCLRE1B_uc001eei.3_Nonsense_Mutation_p.W255*	NM_022836	NP_073747	Q9H816	DCR1B_HUMAN	Homo sapiens DNA cross-link repair 1B (DCLRE1B), mRNA.	381					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTCTCCCTGGCCTGCGGAC	0.483								Other identified genes with known or suspected DNA repair function					A	114454356	G	A	114454356	4	1	199	1	0	0	0	0	0	1	0	0	4329	1357	47	2	1156	2	DCLRE1B	1	114454356	Nonsense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	27499562	114454356	134796265	2	13750											
HMCN1	83872	broad.mit.edu	37	chr1	186120829	186120829	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcaatggctttaccctCaccaatgcagtcttcaaaag	12	10	7	12	0	4	0	3	0	1	0	4	0	4	0	2	1	2	3	2	1	5	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186120829C>A	uc001grq.1	+	94	15079	c.14850C>A	c.(14848-14850)ctC>ctA	p.L4950L	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.L519L	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4950	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GCTTTACCCTCACCAATGCAG	0.348													A	186120829	C	A	186120829	2	1	199	1	0	0	0	0	0	0	0	1	7275	813	29	4		4	HMCN1	1	186120829	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	71666473	186120829	63129792	3	13751											
PLA2G4A	5321	broad.mit.edu	37	chr1	186948519	186948519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgacccagaatcaccatTttcaaccttcaattttcaat	13	14	3	11	0	4	3	4	2	0	1	4	3	4	3	3	0	1	0	3	0	4	5			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr1:186948519T>G	uc001gsc.3	+	16	2238	c.2033T>G	c.(2032-2034)tTt>tGt	p.F678C	PLA2G4A_uc010pos.2_Missense_Mutation_p.F618C	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	678	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAATCACCATTTTCAACCTTC	0.358													G	186948519	T	G	186948519	3	3	199	1	0	0	0	0	1	0	0	0	12078	1841	64	5	2095	5	PLA2G4A	1	186948519	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	827690	186948519	62302102	4	13752											
IL18R1	8809	broad.mit.edu	37	chr2	102988458	102988459	+	Frame_Shift_Del	DEL	AC	AC	-																															aatgtcatcagaagaaataaAcacagctgtttcactgaaag																										TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:102988458_102988459delAC	uc002tbw.4	+	3	498_499	c.348_349delAC	c.(346-351)aaacacfs	p.K116fs	IL18R1_uc010ywb.1_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywd.2_5'UTR|IL18R1_uc010fiy.3_Frame_Shift_Del_p.K116fs|IL18R1_uc010ywc.2_Frame_Shift_Del_p.K116fs	NM_003855	NP_003846	Q13478	IL18R_HUMAN	Homo sapiens interleukin 18 receptor 1 (IL18R1), mRNA.	116	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGAAATAAACACAGCTGTTT	0.277													-	102988459	AC	-	102988458	7	5	199	1	0	1	0	1	0	0	0	0	7705	40	2	0	358	0	IL18R1	2	102988458	Frame_Shift_Del	DEL	AC	TCGA-28-1747-01C-01D-1494-08		102988458	140210915	5	13753											
CALCRL	10203	broad.mit.edu	37	chr2	188223966	188223966	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatataagcttctagcaAtggcatgtatacaagcagga	15	11	9	6	0	1	0	0	0	1	0	1	1	1	1	0	2	4	6	0	2	8	7			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:188223966A>T	uc010frt.3	-	9	1198	c.815T>A	c.(814-816)aTt>aAt	p.I272N	CALCRL_uc002upv.4_Missense_Mutation_p.I272N	NM_005795	NP_005786	Q16602	CALRL_HUMAN	Homo sapiens calcitonin receptor-like (CALCRL), mRNA.	272						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			GCTTCTAGCAATGGCATGTAT	0.244													T	188223966	A	T	188223966	3	4	199	1	0	0	0	0	1	0	0	0	2606	101	4	5	590	5	CALCRL	2	188223966	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	85235508	188223966	54975407	6	13754											
BMPR2	659	broad.mit.edu	37	chr2	203397336	203397336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagatatatggcaccagAagtgctagaaggagctgtga	14	9	12	6	0	1	4	1	1	0	3	1	5	1	5	1	2	2	3	1	2	6	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:203397336A>G	uc002uzf.4	+	8	2305	c.1157A>G	c.(1156-1158)gAa>gGa	p.E386G	BMPR2_uc010ftr.3_Missense_Mutation_p.E386G	NM_001204	NP_001195	Q13873	BMPR2_HUMAN	Homo sapiens bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2), mRNA.	386	Protein kinase.				anterior/posterior pattern formation|BMP signaling pathway|cellular response to starvation|lung alveolus development|mesoderm formation|negative regulation of cell growth|negative regulation of systemic arterial blood pressure|negative regulation of vasoconstriction|positive regulation of BMP signaling pathway|positive regulation of bone mineralization|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of epithelial cell migration|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|regulation of lung blood pressure|transcription from RNA polymerase II promoter|vascular endothelial growth factor receptor signaling pathway	integral to plasma membrane	ATP binding|metal ion binding|transforming growth factor beta receptor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(11)|lung(7)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	42						ATGGCACCAGAAGTGCTAGAA	0.383													G	203397336	A	G	203397336	3	3	199	1	0	0	0	0	1	0	0	0	1477	246	9	3	1191	3	BMPR2	2	203397336	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	15173370	203397336	39802037	7	13755											
SCG2	7857	broad.mit.edu	37	chr2	224463759	224463759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggggacagagacaccttggTagggattataatctgggctg	10	9	16	6	0	1	1	0	0	1	1	1	4	1	3	1	5	0	2	1	5	3	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr2:224463759T>C	uc021vxk.1	-	0	242	c.242A>G	c.(241-243)tAc>tGc	p.Y81C	SCG2_uc002vnm.3_Missense_Mutation_p.Y81C	NM_003469	NP_003460	P13521	SCG2_HUMAN	Homo sapiens secretogranin II (SCG2), mRNA.	81					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity			NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		GACACCTTGGTAGGGATTATA	0.448													C	224463759	T	C	224463759	3	2	199	1	0	0	0	0	1	0	0	0	13983	1638	57	3	1615	3	SCG2	2	224463759	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	21066423	224463759	18735614	8	13756											
OR5K4	403278	broad.mit.edu	37	chr3	98072818	98072818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctatctggtcaccatggtgGggaatcttggtctggtggca	6	13	14	8	0	5	0	1	0	4	0	5	1	5	1	1	7	0	1	1	7	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr3:98072818G>A	uc011bgv.2	+	0	121	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G41W(2)|p.V40V(1)		breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						CACCATGGTGGGGAATCTTGG	0.458													A	98072818	G	A	98072818	3	1	199	1	0	0	0	0	1	0	0	0	11245	1232	43	2	123	2	OR5K4	3	98072818	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		98072818	99949612	9	13757											
ADAM29	11086	broad.mit.edu	37	chr4	175897608	175897608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaatgtgtacaccacaccGtagttgtgcaattgttactt	11	13	9	8	1	0	0	0	0	0	0	0	1	0	1	2	1	3	5	2	1	5	6			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr4:175897608G>A	uc003iuc.3	+	4	1602	c.932G>A	c.(931-933)cGt>cAt	p.R311H	ADAM29_uc003iud.3_Missense_Mutation_p.R311H|ADAM29_uc010irr.3_Missense_Mutation_p.R311H|ADAM29_uc011cki.2_Missense_Mutation_p.R311H|ADAM29_uc021xuo.1_Missense_Mutation_p.R311H	NM_014269	NP_055084	Q9UKF5	ADA29_HUMAN	Homo sapiens ADAM metallopeptidase domain 29 (ADAM29), transcript variant 1, mRNA.	311	Peptidase M12B.				proteolysis|spermatogenesis	integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		ACACCACACCGTAGTTGTGCA	0.428													A	175897608	G	A	175897608	3	1	199	1	0	0	0	0	1	0	0	0	247	1145	40	1	934	1	ADAM29	4	175897608	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		175897608	15256668	10	13758											
SLC6A3	6531	broad.mit.edu	37	chr5	1409844	1409844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtacgtacgttggtgaCgcagaacagggacaggagga	12	6	17	6	3	0	2	0	1	0	1	0	6	0	5	0	5	3	4	0	5	3	3	rs140401978		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:1409844C>T	uc003jck.3	-	9	1516	c.1390G>A	c.(1390-1392)Gtc>Atc	p.V464I		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	464					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ACGTTGGTGACGCAGAACAGG	0.612													T	1409844	C	T	1409844	3	4	199	1	0	0	0	0	1	0	0	0	14779	536	19	1	496	1	SLC6A3	5	1409844	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		1409844	179505416	11	13759											
ZFYVE16	9765	broad.mit.edu	37	chr5	79768699	79768699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagacctgagagaatacGtggatatctgctgggtagat	12	10	13	6	1	1	4	0	1	1	3	1	6	1	5	1	2	2	3	1	2	5	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:79768699G>A	uc003kgr.4	+	15	4446	c.4144G>A	c.(4144-4146)Gtg>Atg	p.V1382M	ZFYVE16_uc003kgq.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgs.4_Missense_Mutation_p.V1382M|ZFYVE16_uc003kgt.4_Missense_Mutation_p.V470M|ZFYVE16_uc003kgu.4_Missense_Mutation_p.V134M	NM_001105251	NP_055548	Q7Z3T8	ZFY16_HUMAN	Homo sapiens zinc finger, FYVE domain containing 16 (ZFYVE16), transcript variant 2, mRNA.	1382					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity			breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		GAGAGAATACGTGGATATCTG	0.368													A	79768699	G	A	79768699	3	1	199	1	0	0	0	0	1	0	0	0	17765	1145	40	1	4198	1	ZFYVE16	5	79768699	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	78358855	79768699	101146561	12	13760											
ACOT12	134526	broad.mit.edu	37	chr5	80643625	80643625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccactgtctccatccaCgccataatctggccaccaaa	11	8	6	16	1	2	0	0	0	2	0	4	0	3	0	6	1	1	1	6	1	3	2	rs150238683	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:80643625C>T	uc003khl.4	-	5	676	c.621G>A	c.(619-621)gcG>gcA	p.A207A	RNU5E-1_uc011cto.1_Intron	NM_130767	NP_570123	Q8WYK0	ACO12_HUMAN	Homo sapiens acyl-CoA thioesterase 12 (ACOT12), mRNA.	207	Acyl coenzyme A hydrolase 2.				acyl-CoA metabolic process|fatty acid metabolic process	cytosol	acetyl-CoA hydrolase activity|carboxylesterase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)	23		Lung NSC(167;0.0176)|all_lung(232;0.0205)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;1.37e-45)|Epithelial(54;1.25e-39)|all cancers(79;5.01e-34)		TCTCCATCCACGCCATAATCT	0.502													T	80643625	C	T	80643625	2	4	199	1	0	0	0	0	0	0	0	1	150	523	19	1		1	ACOT12	5	80643625	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	874926	80643625	100271635	13	13761											
PCSK1	5122	broad.mit.edu	37	chr5	95735874	95735874	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggtgctgcatatctcGccaggtgagatttgggctgg	8	10	14	9	1	1	1	0	1	1	1	2	2	1	1	2	4	3	3	2	4	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:95735874G>A	uc003kls.2	-	9	1452	c.1213C>T	c.(1213-1215)Cga>Tga	p.R405*	PCSK1_uc010jbi.2_Nonsense_Mutation_p.R95*|PCSK1_uc021ybq.1_Nonsense_Mutation_p.R358*	NM_000439	NP_000430	P29120	NEC1_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 1 (PCSK1), transcript variant 1, mRNA.	405	Catalytic.				cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity	p.R405Q(1)		NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGCATATCTCGCCAGGTGAGA	0.478													A	95735874	G	A	95735874	4	1	199	1	0	0	0	0	0	1	0	0	11676	1095	38	1	1068	1	PCSK1	5	95735874	Nonsense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	15092249	95735874	85179386	14	13762											
PCDHAC2	9752	broad.mit.edu	37	chr5	140230084	140230084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccactgtgctggtgtcGctggtggagagcggccaggc	5	7	18	11	3	0	1	0	0	0	1	1	2	0	1	2	6	2	2	2	6	0	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140230084G>A	uc003lhu.2	+	0	2728	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lht.1_Silent_p.S668S	NM_031857	NP_114063	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 9 (PCDHA9), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGTGTCGCTGGTGGAGA	0.677													A	140230084	G	A	140230084	2	1	199	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140230084	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	44494210	140230084	40685176	15	13763											
PCDHGC5	26025	broad.mit.edu	37	chr5	140811313	140811313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgcaggatattctgcGcgagccaaagtcctgatcac	12	9	10	10	2	2	1	1	1	1	0	3	4	3	2	2	1	3	1	2	1	3	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr5:140811313G>A	uc003lkt.2	+	0	1156	c.987G>A	c.(985-987)gcG>gcA	p.A329A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc003lkh.2_Intron|PCDHGC5_uc003lkj.2_Intron|PCDHGC5_uc003lkl.2_Intron|PCDHGC5_uc003lkn.2_Intron|PCDHGC5_uc003lkq.2_Intron|PCDHGC5_uc003lkp.2_Intron|PCDHGC5_uc011dba.2_Silent_p.A329A	NM_003735	NP_003726	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 12 (PCDHGA12), transcript variant 1, mRNA.	332	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATATTCTGCGCGAGCCAAAG	0.512													A	140811313	G	A	140811313	2	1	199	1	0	0	0	0	0	0	0	1	11647	1074	38	1		1	PCDHGC5	5	140811313	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	581229	140811313	40103947	16	13764											
FAM50B	26240	broad.mit.edu	37	chr6	3850733	3850733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctggagctgcgctccGccggcgtggagcagctcatg	5	8	14	14	4	1	0	1	0	0	0	3	2	3	2	3	3	4	4	3	3	0	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:3850733G>A	uc003mvu.3	+	1	800	c.688G>A	c.(688-690)Gcc>Acc	p.A230T	FAM50B_uc021ykt.1_Missense_Mutation_p.A230T	NM_012135	NP_036267	Q9Y247	FA50B_HUMAN	Homo sapiens family with sequence similarity 50, member B (FAM50B), mRNA.	230						nucleus		p.A230A(1)|p.S229F(1)		cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GCTGCGCTCCGCCGGCGTGGA	0.652													A	3850733	G	A	3850733	3	1	199	1	0	0	0	0	1	0	0	0	5629	1087	38	1	690	1	FAM50B	6	3850733	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		3850733	167264334	17	13765											
GPX5	2880	broad.mit.edu	37	chr6	28497327	28497327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcagtatgtgggcaagCacatcctcttcgtcaacgtg	10	10	10	11	2	3	0	2	0	1	0	5	0	4	0	1	1	3	4	1	1	4	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr6:28497327C>T	uc003nll.2	+	1	189	c.187C>T	c.(187-189)Cac>Tac	p.H63Y	GPX5_uc003nlm.2_Missense_Mutation_p.H63Y|GPX5_uc003nln.2_Non-coding_Transcript	NM_001509	NP_001500	O75715	GPX5_HUMAN	Homo sapiens glutathione peroxidase 5 (epididymal androgen-related protein) (GPX5), transcript variant 1, mRNA.	63					lipid metabolic process|response to oxidative stress	extracellular region	glutathione peroxidase activity			endometrium(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16					Glutathione(DB00143)	TGTGGGCAAGCACATCCTCTT	0.443													T	28497327	C	T	28497327	3	4	199	1	0	0	0	0	1	0	0	0	6798	710	25	2	193	2	GPX5	6	28497327	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	24646594	28497327	142617740	18	13766											
DNAH11	8701	broad.mit.edu	37	chr7	21658736	21658736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtcaagtttttaataaatGaagccacaactttggcagat	15	12	8	6	0	1	2	1	1	0	1	1	2	1	2	1	2	2	2	1	2	6	5			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:21658736G>A	uc003svc.3	+	23	4319	c.4288G>A	c.(4288-4290)Gaa>Aaa	p.E1430K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	1430	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTTAATAAATGAAGCCACAAC	0.418									Kartagener syndrome				A	21658736	G	A	21658736	3	1	199	1	0	0	0	0	1	0	0	0	4638	1291	45	2	4382	2	DNAH11	7	21658736	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		21658736	137479927	19	13767											
EGFR	1956	broad.mit.edu	37	chr7	55211079	55211079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaacctgcagatcatcAgaggaaatatgtactacgaa	17	8	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55211079A>G	uc003tqk.3	+	2	568	c.322A>G	c.(322-324)Aga>Gga	p.R108G	EGFR_uc003tqh.3_Missense_Mutation_p.R108G|EGFR_uc003tqi.3_Missense_Mutation_p.R108G|EGFR_uc003tqj.3_Missense_Mutation_p.R108G|EGFR_uc022adm.1_Missense_Mutation_p.R108G|EGFR_uc010kzg.2_Missense_Mutation_p.R108G|EGFR_uc022adn.1_Missense_Mutation_p.R108G|EGFR_uc011kco.2_Missense_Mutation_p.R55G	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCAGATCATCAGAGGAAATAT	0.418		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55211079	A	G	55211079	3	3	199	1	0	0	0	0	1	0	0	0	5006	180	7	3	332	3	EGFR	7	55211079	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08	33552343	55211079	103927584	20	13768											
EGFR	1956	broad.mit.edu	37	chr7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattatgtggtgacagatCacggctcgtgcgtccgagcc	8	10	13	10	4	1	2	1	1	0	1	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223543	C	T	55223543	3	4	199	1	0	0	0	0	1	0	0	0	5006	826	29	2	940	2	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	12464	55223543	103915120	21	13769											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	199	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	9500	55233043	103905620	22	13770											
PCLO	27445	broad.mit.edu	37	chr7	82585035	82585035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctccttttttgtgactcGggctactgtcactgtcctca	4	17	7	13	1	3	1	2	1	1	0	7	1	5	1	2	1	1	1	2	1	1	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:82585035G>A	uc003uhx.2	-	4	5523	c.5234C>T	c.(5233-5235)cCg>cTg	p.P1745L	PCLO_uc003uhv.2_Missense_Mutation_p.P1745L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1676					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTTGTGACTCGGGCTACTGTC	0.488													A	82585035	G	A	82585035	3	1	199	1	0	0	0	0	1	0	0	0	11659	1116	39	1	10295	1	PCLO	7	82585035	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	27351992	82585035	76553628	23	13771											
DYNC1I1	1780	broad.mit.edu	37	chr7	95442583	95442583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacccctatgtctccctcctCgaaatcagtgagcactccca	10	9	5	17	1	2	1	1	1	1	0	6	2	4	1	5	0	2	1	5	0	3	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:95442583C>T	uc003uoc.4	+	3	576	c.299C>T	c.(298-300)tCg>tTg	p.S100L	DYNC1I1_uc003uod.4_Missense_Mutation_p.S83L|DYNC1I1_uc003uob.3_Missense_Mutation_p.S83L|DYNC1I1_uc003uoe.4_Missense_Mutation_p.S100L|DYNC1I1_uc010lfl.3_Missense_Mutation_p.S89L	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	100	Interaction with DCTN1 (By similarity).				vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.S100S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TCTCCCTCCTCGAAATCAGTG	0.468													T	95442583	C	T	95442583	3	4	199	1	0	0	0	0	1	0	0	0	4881	893	31	1	309	1	DYNC1I1	7	95442583	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	12857548	95442583	63696080	24	13772											
OR2A7	401427	broad.mit.edu	37	chr7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgaatccttgggccaaCgggaaatcccagtaggagga	12	7	12	10	1	1	1	0	1	1	0	3	4	3	4	3	4	1	1	3	4	4	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr7:143956670C>T	uc011kuc.2	-	0	52	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													T	143956670	C	T	143956670	3	4	199	1	0	0	0	0	1	0	0	0	11058	536	19	1	883	1	OR2A7	7	143956670	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	48514087	143956670	15181993	25	13773											
MTUS1	57509	broad.mit.edu	37	chr8	17503489	17503489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaattccttggtgactgCaaagggatggcggaggatgt	9	9	15	8	2	0	1	0	1	0	0	1	5	1	4	2	5	1	1	2	5	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:17503489C>A	uc003wxv.3	-	14	4233	c.3759G>T	c.(3757-3759)ttG>ttT	p.L1253F	MTUS1_uc003wxt.3_Missense_Mutation_p.L500F|MTUS1_uc011kyg.2_Missense_Mutation_p.L398F|MTUS1_uc010lsy.3_Non-coding_Transcript|MTUS1_uc003wxw.3_Missense_Mutation_p.L1199F|MTUS1_uc003wxs.3_Missense_Mutation_p.L419F	NM_001001924	NP_001001924	Q9ULD2	MTUS1_HUMAN	Homo sapiens microtubule associated tumor suppressor 1 (MTUS1), transcript variant 1, mRNA.	1253						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		TTGGTGACTGCAAAGGGATGG	0.537													A	17503489	C	A	17503489	3	1	199	1	0	0	0	0	1	0	0	0	10041	709	25	4	57	4	MTUS1	8	17503489	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		17503489	128860533	26	13774											
TG	7038	broad.mit.edu	37	chr8	133925395	133925395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgttcccagcggaaacCatccgcttcctccaagggga	11	6	10	14	3	0	1	0	0	0	1	4	3	4	3	5	3	2	2	5	3	3	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr8:133925395C>T	uc003ytw.3	+	19	4304	c.4263C>T	c.(4261-4263)acC>acT	p.T1421T	TG_uc010mdw.3_Silent_p.T180T	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	1421					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CAGCGGAAACCATCCGCTTCC	0.562													T	133925395	C	T	133925395	2	4	199	1	0	0	0	0	0	0	0	1	15913	581	21	2		2	TG	8	133925395	Silent	SNP	C	TCGA-28-1747-01C-01D-1494-08	116421906	133925395	12438627	27	13775											
AKNA	80709	broad.mit.edu	37	chr9	117099371	117099371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaggctgtgagcctggCgcaggtcggctgacagcgag	6	5	17	13	4	0	2	0	2	0	0	1	3	0	2	2	4	2	4	2	4	0	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr9:117099371C>T	uc004biq.3	-	20	4418	c.4283G>A	c.(4282-4284)cGc>cAc	p.R1428H	AKNA_uc004bin.3_Missense_Mutation_p.R675H|AKNA_uc004bio.3_Missense_Mutation_p.R888H|AKNA_uc004bip.3_Missense_Mutation_p.R1347H|AKNA_uc004bir.3_Missense_Mutation_p.R1428H|AKNA_uc004bis.3_Missense_Mutation_p.R1428H|AKNA_uc010mve.2_Missense_Mutation_p.R1309H	NM_030767	NP_110394	Q7Z591	AKNA_HUMAN	Homo sapiens AT-hook transcription factor (AKNA), mRNA.	1428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GTGAGCCTGGCGCAGGTCGGC	0.682													T	117099371	C	T	117099371	3	4	199	1	0	0	0	0	1	0	0	0	463	768	27	1	40	1	AKNA	9	117099371	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		117099371	24114060	28	13776											
ALX4	60529	broad.mit.edu	37	chr11	44297101	44297101	+	Frame_Shift_Del	DEL	C	C	-																															gaggtctgagctggcccggtCctggggccccttcaccccag																										TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:44297101delC	uc001myb.3	-	1	678	c.574delG	c.(574-576)gacfs	p.D192fs		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	192					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						CTGGCCCGGTCCTGGGGCCCC	0.632													-	44297101	C	-	44297101	7	5	199	1	0	1	0	1	0	0	0	0	558	855	30	0	673	0	ALX4	11	44297101	Frame_Shift_Del	DEL	C	TCGA-28-1747-01C-01D-1494-08		44297101	90709415	29	13777											
NCAM1	4684	broad.mit.edu	37	chr11	113076266	113076266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagctcatgttcaagaatgCgccaaccccacaggagttcc	12	7	9	13	1	2	1	2	0	0	1	3	3	3	2	4	1	3	3	4	1	4	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:113076266C>T	uc021qqp.1	+	3	734	c.362C>T	c.(361-363)gCg>gTg	p.A121V	NCAM1_uc001pno.3_Missense_Mutation_p.A5V|NCAM1_uc001pnp.3_Missense_Mutation_p.A121V|NCAM1_uc021qqo.1_Missense_Mutation_p.A121V|NCAM1_uc001pnq.3_Missense_Mutation_p.A121V|NCAM1_uc001pnr.3_Missense_Mutation_p.A121V	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	123	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		TTCAAGAATGCGCCAACCCCA	0.522													T	113076266	C	T	113076266	3	4	199	1	0	0	0	0	1	0	0	0	10278	768	27	1	383	1	NCAM1	11	113076266	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	68779165	113076266	21930250	30	13778											
FAM55A	120400	broad.mit.edu	37	chr11	114400948	114400948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagatacctctctattcCgggtggtcatgtaggtcaga	10	12	11	8	1	3	2	2	0	1	2	5	3	4	2	2	3	1	1	2	3	4	5	rs150857743	byFrequency	TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr11:114400948C>T	uc001ppa.3	-	2	773	c.356G>A	c.(355-357)cGg>cAg	p.R119Q	FAM55A_uc010rxd.2_5'UTR|FAM55A_uc001ppb.1_Missense_Mutation_p.R261Q	NM_152315	NP_689528	Q8N323	FA55A_HUMAN	Homo sapiens family with sequence similarity 55, member A (FAM55A), mRNA.	261						extracellular region				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	17		all_cancers(61;8.53e-16)|all_epithelial(67;1.71e-08)|all_hematologic(158;3.05e-05)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0194)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;3.02e-06)|Epithelial(105;0.000144)|all cancers(92;0.00106)		CTCTCTATTCCGGGTGGTCAT	0.458													T	114400948	C	T	114400948	3	4	199	1	0	0	0	0	1	0	0	0	5635	652	23	1	877	1	FAM55A	11	114400948	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	1324682	114400948	20605568	31	13779											
CD163L1	283316	broad.mit.edu	37	chr12	7531814	7531814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagcacacagaattcccaCggcaccctggacattcacct	12	8	6	15	1	1	1	1	0	0	1	2	2	2	2	3	2	1	2	3	2	2	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:7531814C>T	uc010sge.2	-	8	2187	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	CD163L1_uc001qsy.3_Missense_Mutation_p.V711M	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	711	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGAATTCCCACGGCACCCTGG	0.502													T	7531814	C	T	7531814	3	4	199	1	0	0	0	0	1	0	0	0	2998	536	19	1	2274	1	CD163L1	12	7531814	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		7531814	126320081	32	13780											
PPM1H	57460	broad.mit.edu	37	chr12	63195712	63195712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggcccccacccctcCgcgcagggaggctgcccggg	3	2	16	20	4	0	0	0	0	0	0	1	1	1	1	7	5	1	2	7	5	0	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr12:63195712C>T	uc001srk.3	-	2	789	c.640G>A	c.(640-642)Gga>Aga	p.G214R		NM_020700	NP_065751	Q9ULR3	PPM1H_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1H (PPM1H), mRNA.	214	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CCCACCCCTCCGCGCAGGGAG	0.682													T	63195712	C	T	63195712	3	4	199	1	0	0	0	0	1	0	0	0	12423	661	23	1	936	1	PPM1H	12	63195712	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	55663898	63195712	70656183	33	13781											
ATP11A	23250	broad.mit.edu	37	chr13	113527920	113527920	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactactggacttggatcAaccattttgtcatctggggg	9	12	10	10	0	3	0	2	0	1	0	3	2	3	2	1	4	2	0	1	4	2	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr13:113527920A>T	uc001vsj.4	+	26	3179	c.3091A>T	c.(3091-3093)Aac>Tac	p.N1031Y	ATP11A_uc001vsi.4_Missense_Mutation_p.N1031Y|ATP11A_uc010ago.3_Non-coding_Transcript	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	1031					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GACTTGGATCAACCATTTTGT	0.448											OREG0003854	type=REGULATORY REGION|Gene=ATP11A|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	113527920	A	T	113527920	3	4	199	1	0	0	0	0	1	0	0	0	1124	130	5	5	3197	5	ATP11A	13	113527920	Missense_Mutation	SNP	A	TCGA-28-1747-01C-01D-1494-08		113527920	1641958	34	13782											
AK7	122481	broad.mit.edu	37	chr14	96953242	96953242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattctattttagaataaacGactggaggaagtgaaaagag	17	11	10	3	1	1	3	0	1	1	2	1	6	1	5	0	2	1	0	0	2	9	6			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr14:96953242G>A	uc001yfn.2	+	16	2026	c.1982G>A	c.(1981-1983)cGa>cAa	p.R661Q		NM_152327	NP_689540	Q96M32	KAD7_HUMAN	Homo sapiens adenylate kinase 7 (AK7), mRNA.	661	Glu-rich.				cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TAGAATAAACGACTGGAGGAA	0.393													A	96953242	G	A	96953242	3	1	199	1	0	0	0	0	1	0	0	0	444	1058	37	1	2048	1	AK7	14	96953242	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		96953242	10396298	35	13783											
RYR3	6263	broad.mit.edu	37	chr15	33944995	33944995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatcaaatcggagcaacGtggacctggagatcggctgt	12	7	14	8	3	1	2	1	0	0	2	3	6	1	4	1	4	2	2	1	4	2	0			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:33944995G>A	uc001zhi.3	+	31	4289	c.4219G>A	c.(4219-4221)Gtg>Atg	p.V1407M	RYR3_uc010bar.3_Missense_Mutation_p.V1407M	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1407	4 X approximate repeats.|B30.2/SPRY 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGGAGCAACGTGGACCTGGA	0.557													A	33944995	G	A	33944995	3	1	199	1	0	0	0	0	1	0	0	0	13861	1145	40	1	4345	1	RYR3	15	33944995	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		33944995	68586397	36	13784											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658464	43658464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctcttcagtctcagcatCgctgcctaccaggccagagt	7	10	10	14	1	3	1	2	0	2	1	5	1	3	1	3	2	3	3	3	2	1	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:43658464C>T	uc001zrk.1	-	2	1213	c.1066G>A	c.(1066-1068)Gat>Aat	p.D356N	ZSCAN29_uc001zrj.1_Missense_Mutation_p.D236N|ZSCAN29_uc010bdg.1_Intron|ZSCAN29_uc010bdf.1_Missense_Mutation_p.D355N|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.D355N	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	356					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		GTCTCAGCATCGCTGCCTACC	0.572													T	43658464	C	T	43658464	3	4	199	1	0	0	0	0	1	0	0	0	18333	884	31	1	1504	1	ZSCAN29	15	43658464	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	9713469	43658464	58872928	37	13785											
SLC28A2	9153	broad.mit.edu	37	chr15	45555359	45555359	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttgtcctggttcactcGtttttgaaaaagctcctggg	7	16	9	9	1	2	1	1	1	1	0	5	1	4	1	2	2	1	3	2	2	2	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr15:45555359G>A	uc001zva.2	+	4	428	c.363G>A	c.(361-363)tcG>tcA	p.S121S		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	121					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TGGTTCACTCGTTTTTGAAAA	0.458													A	45555359	G	A	45555359	2	1	199	1	0	0	0	0	0	0	0	1	14626	1132	40	1		1	SLC28A2	15	45555359	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	1896895	45555359	56976033	38	13786											
GRIN2A	2903	broad.mit.edu	37	chr16	10273879	10273879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccatgatcatagatgcGcccccatgaatgcccaagat	12	8	8	13	1	2	4	2	2	0	2	2	4	2	4	4	0	3	0	4	0	3	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr16:10273879G>A	uc010uym.2	-	2	700	c.390C>T	c.(388-390)ggC>ggT	p.G130G	GRIN2A_uc002czo.4_Silent_p.G130G|GRIN2A_uc002czr.4_Silent_p.G130G|GRIN2A_uc010buk.3_Silent_p.G130G	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	130					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.G130C(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCATAGATGCGCCCCCATGAA	0.597													A	10273879	G	A	10273879	2	1	199	1	0	0	0	0	0	0	0	1	6834	1074	38	1		1	GRIN2A	16	10273879	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08		10273879	80080874	39	13787											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400088	13400088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgacgaagtaactgggcGtcttctccatggtgatctgc	7	11	13	10	3	3	2	0	2	3	0	4	3	3	2	1	2	2	1	1	2	2	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:13400088G>A	uc002gob.1	-	1	1445	c.647C>T	c.(646-648)aCg>aTg	p.T216M		NM_006042	NP_006033	Q9Y663	HS3SA_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1 (HS3ST3A1), mRNA.	216	Substrate binding.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity	p.T216T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTAACTGGGCGTCTTCTCCAT	0.622													A	13400088	G	A	13400088	3	1	199	1	0	0	0	0	1	0	0	0	7420	1145	40	1	577	1	HS3ST3A1	17	13400088	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		13400088	67795122	40	13788											
HEXIM1	10614	broad.mit.edu	37	chr17	43226653	43226653	+	Frame_Shift_Del	DEL	C	C	-																															gaagagctgaaccctgagcgCcccccaggcgcggaggagcg																										TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:43226653delC	uc002iig.3	+	0	1970	c.96delC	c.(94-96)cgcfs	p.R32fs		NM_006460	NP_006451	O94992	HEXI1_HUMAN	Homo sapiens hexamethylene bis-acetamide inducible 1 (HEXIM1), mRNA.	32					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACCCTGAGCGCCCCCCAGGCG	0.632											OREG0024474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	43226653	C	-	43226653	7	5	199	1	0	1	0	1	0	0	0	0	7131	726	26	0	98	0	HEXIM1	17	43226653	Frame_Shift_Del	DEL	C	TCGA-28-1747-01C-01D-1494-08	29826565	43226653	37968557	41	13789											
ABCA9	10350	broad.mit.edu	37	chr17	67016638	67016638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgattgttttccttgtttCgtggaaggaagacaaaactt	11	15	9	6	1	0	2	0	1	0	1	2	4	1	4	1	2	1	2	1	2	4	6			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr17:67016638C>T	uc002jhu.3	-	18	2634	c.2491G>A	c.(2491-2493)Gaa>Aaa	p.E831K	ABCA9_uc010dez.3_Missense_Mutation_p.E831K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	831					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TTCCTTGTTTCGTGGAAGGAA	0.413													T	67016638	C	T	67016638	3	4	199	1	0	0	0	0	1	0	0	0	39	893	31	1	2467	1	ABCA9	17	67016638	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	23789985	67016638	14178572	42	13790											
LIPG	9388	broad.mit.edu	37	chr18	47101837	47101837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctccacacctacacgCgttccttcggcttgagcatt	7	12	7	15	3	0	1	0	1	0	0	4	1	3	1	4	1	2	3	4	1	1	5			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr18:47101837C>T	uc002ldv.3	+	4	922	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	LIPG_uc002ldu.1_Missense_Mutation_p.R224C|LIPG_uc010xdh.2_Intron	NM_006033	NP_006024	Q9Y5X9	LIPE_HUMAN	Homo sapiens lipase, endothelial (LIPG), mRNA.	224					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						CACCTACACGCGTTCCTTCGG	0.557													T	47101837	C	T	47101837	3	4	199	1	0	0	0	0	1	0	0	0	8884	768	27	1	688	1	LIPG	18	47101837	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08		47101837	30975411	43	13791											
MUC16	94025	broad.mit.edu	37	chr19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatatctgggaactttGttgactgagcaggagttggt	12	12	13	4	0	1	3	0	2	1	1	1	5	1	5	0	3	2	3	0	3	4	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:9073488G>T	uc002mkp.3	-	2	14162	c.13958C>A	c.(13957-13959)aCa>aAa	p.T4653K		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	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	0.458													T	9073488	G	T	9073488	3	4	199	1	0	0	0	0	1	0	0	0	10049	1377	48	4	29893	4	MUC16	19	9073488	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		9073488	50055495	44	13792											
GRAMD1A	57655	broad.mit.edu	37	chr19	35500871	35500871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccgaagcagaacgcctcaTtgtgggtgagtcccggaccc	8	6	12	15	3	1	2	1	1	0	1	2	4	2	3	5	2	2	1	5	2	2	1			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:35500871T>C	uc010xsf.1	+	3	335	c.335T>C	c.(334-336)aTt>aCt	p.I112T	GRAMD1A_uc002nxi.1_Missense_Mutation_p.I194T|GRAMD1A_uc010xse.1_Missense_Mutation_p.I107T|GRAMD1A_uc002nxk.2_Missense_Mutation_p.I100T|GRAMD1A_uc002nxl.2_5'UTR	NM_020895	NP_065946	Q96CP6	GRM1A_HUMAN	Homo sapiens GRAM domain containing 1A (GRAMD1A), transcript variant 1, mRNA.	107	GRAM.					integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GAACGCCTCATTGTGGGTGAG	0.607													C	35500871	T	C	35500871	3	2	199	1	0	0	0	0	1	0	0	0	6802	1493	52	3	334	3	GRAMD1A	19	35500871	Missense_Mutation	SNP	T	TCGA-28-1747-01C-01D-1494-08	26427383	35500871	23628112	45	13793											
ZNF610	162963	broad.mit.edu	37	chr19	52868955	52868955	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttcttcttttctagggagGagctgtgtattgggaagcaa	8	15	12	6	0	3	0	0	0	3	0	3	3	3	3	0	3	2	3	0	3	4	7			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:52868955G>A	uc002pyx.4	+	5	730	c.324G>A	c.(322-324)agG>agA	p.R108R	ZNF610_uc002pyy.4_Silent_p.R108R|ZNF610_uc002pyz.4_Silent_p.R65R|ZNF610_uc002pza.3_Silent_p.R108R	NM_001161426	NP_775801	Q8N9Z0	ZN610_HUMAN	Homo sapiens zinc finger protein 610 (ZNF610), transcript variant 2, mRNA.	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(8)|liver(2)|lung(9)|ovary(2)|stomach(2)|upper_aerodigestive_tract(2)	34				OV - Ovarian serous cystadenocarcinoma(262;0.00396)|GBM - Glioblastoma multiforme(134;0.00434)		TTCTAGGGAGGAGCTGTGTAT	0.453													A	52868955	G	A	52868955	2	1	199	1	0	0	0	0	0	0	0	1	18137	1165	41	2		2	ZNF610	19	52868955	Silent	SNP	G	TCGA-28-1747-01C-01D-1494-08	17368084	52868955	6260028	46	13794											
PTPRH	5794	broad.mit.edu	37	chr19	55693262	55693262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgcactgatgcaggaataCgtactgagcctgggaagcag	12	7	14	8	1	0	2	0	2	0	0	0	5	0	4	1	2	6	4	1	2	4	2	rs140496718		TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr19:55693262C>T	uc002qjq.3	-	19	3281	c.3208G>A	c.(3208-3210)Gta>Ata	p.V1070I	PTPRH_uc010esv.3_Missense_Mutation_p.V892I|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1070	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TGCAGGAATACGTACTGAGCC	0.622													T	55693262	C	T	55693262	3	4	199	1	0	0	0	0	1	0	0	0	12891	536	19	1	143	1	PTPRH	19	55693262	Missense_Mutation	SNP	C	TCGA-28-1747-01C-01D-1494-08	2824307	55693262	3435721	47	13795											
ANGPT4	51378	broad.mit.edu	37	chr20	853677	853677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgaagtagtgccagcGgatgccgtccatcttgtact	7	11	11	12	2	1	1	0	1	1	0	2	2	2	2	4	1	4	2	4	1	3	4			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:853677G>A	uc002wei.3	-	8	1541	c.1438C>T	c.(1438-1440)Cgc>Tgc	p.R480C	ANGPT4_uc010zpn.2_3'UTR	NM_015985	NP_057069	Q9Y264	ANGP4_HUMAN	Homo sapiens angiopoietin 4 (ANGPT4), mRNA.	480	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						TAGTGCCAGCGGATGCCGTCC	0.587													A	853677	G	A	853677	3	1	199	1	0	0	0	0	1	0	0	0	612	1116	39	1	77	1	ANGPT4	20	853677	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		853677	62171843	48	13796											
MOCS3	27304	broad.mit.edu	37	chr20	49576424	49576424	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgactgctggattctgggGcattccacctgttgctggac	6	11	13	11	1	1	0	0	0	1	0	2	3	2	2	2	4	3	4	2	4	0	3			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr20:49576424G>C	uc002xvy.1	+	0	1062	c.1045G>C	c.(1045-1047)Gca>Cca	p.A349P	DPM1_uc002xvw.1_5'Flank|DPM1_uc002xvx.1_5'Flank	NM_014484	NP_055299	O95396	MOCS3_HUMAN	Homo sapiens molybdenum cofactor synthesis 3 (MOCS3), mRNA.	349	Rhodanese.				enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						GGATTCTGGGGCATTCCACCT	0.552													C	49576424	G	C	49576424	3	2	199	1	0	0	0	0	1	0	0	0	9768	1203	42	4	1047	4	MOCS3	20	49576424	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08	48722747	49576424	13449096	49	13797											
TRPM2	7226	broad.mit.edu	37	chr21	45798938	45798938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtggagggctcgggccGcgtggccgacgtcattgccc	3	8	18	12	5	1	0	1	0	0	0	2	2	1	1	3	5	1	2	3	5	0	2			TCGA-28-1747-01C-01D-1494-08	TCGA-28-1747-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c746081-ac14-4ae2-9564-d67d52f2627c	53b59edd-ae02-4865-8ee3-d8a0da64e9e9	g.chr21:45798938G>A	uc010gpt.1	+	7	1173	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	TRPM2_uc002zet.1_Missense_Mutation_p.R358H|TRPM2_uc002zeu.1_Missense_Mutation_p.R358H|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.R358H|TRPM2_uc002zex.1_Missense_Mutation_p.R144H	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	358						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGCTCGGGCCGCGTGGCCGAC	0.622													A	45798938	G	A	45798938	3	1	199	1	0	0	0	0	1	0	0	0	16687	1087	38	1	1103	1	TRPM2	21	45798938	Missense_Mutation	SNP	G	TCGA-28-1747-01C-01D-1494-08		45798938	2330957	50	13798											
CROCC	9696	broad.mit.edu	37	chr1	17296756	17296756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctgttgcaggtgctgcgGcagcggcaggagggtgaggc	5	8	19	9	2	1	1	0	1	1	0	1	2	1	2	0	6	4	5	0	6	0	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:17296756G>A	uc001azt.2	+	33	5529	c.5460G>A	c.(5458-5460)cgG>cgA	p.R1820R	CROCC_uc001azu.2_Silent_p.R1123R|CROCC_uc001azv.2_Silent_p.R156R	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1820					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGGTGCTGCGGCAGCGGCAGG	0.657													A	17296756	G	A	17296756	2	1	200	1	0	0	0	0	0	0	0	1	3924	1190	42	2		2	CROCC	1	17296756	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		17296756	231953865	1	13799											
HCRTR1	3061	broad.mit.edu	37	chr1	32086485	32086485	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctaactctcagcttcatCgccctggaccgctggtatgc	6	11	10	14	2	2	0	2	0	1	0	4	1	2	1	2	2	4	4	2	2	2	3	rs140406432		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:32086485C>T	uc009vtx.2	+	4	805	c.420C>T	c.(418-420)atC>atT	p.I140I	HCRTR1_uc001btc.4_Silent_p.I54I|HCRTR1_uc001btd.2_Silent_p.I140I|HCRTR1_uc010ogl.2_Silent_p.I140I	NM_001525	NP_001516	O43613	OX1R_HUMAN	Homo sapiens hypocretin (orexin) receptor 1 (HCRTR1), mRNA.	140					feeding behavior|neuropeptide signaling pathway|synaptic transmission	integral to plasma membrane				breast(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	7		Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.053)		TCAGCTTCATCGCCCTGGACC	0.627													T	32086485	C	T	32086485	2	4	200	1	0	0	0	0	0	0	0	1	7056	874	31	1		1	HCRTR1	1	32086485	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	14789729	32086485	217164136	2	13800											
PABPC4	8761	broad.mit.edu	37	chr1	40038250	40038250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagttcatggtgtccaaagCccgctcagctgtaagagaga	13	8	11	9	1	2	2	2	0	0	2	3	3	3	2	2	1	2	4	2	1	3	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:40038250C>T	uc001cdl.2	-	1	1100	c.202G>A	c.(202-204)Gct>Act	p.A68T	PABPC4_uc010oiv.1_Missense_Mutation_p.A68T|PABPC4_uc001cdm.2_Missense_Mutation_p.A68T	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	68	RRM 1.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.R67W(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GTGTCCAAAGCCCGCTCAGCT	0.463													T	40038250	C	T	40038250	3	4	200	1	0	0	0	0	1	0	0	0	11442	739	26	2	1836	2	PABPC4	1	40038250	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	7951765	40038250	209212371	3	13801											
CYP4X1	260293	broad.mit.edu	37	chr1	47512186	47512186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatgtgcatcaaggagaCgtgccgattgattcctgcag	11	9	11	10	2	1	2	1	1	0	1	2	4	2	2	2	1	3	2	2	1	2	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47512186C>T	uc001cqt.3	+	8	1371	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	CYP4X1_uc001cqr.3_Missense_Mutation_p.T373M|CYP4X1_uc001cqs.3_Missense_Mutation_p.T309M	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	374						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATCAAGGAGACGTGCCGATTG	0.493													T	47512186	C	T	47512186	3	4	200	1	0	0	0	0	1	0	0	0	4226	536	19	1	1155	1	CYP4X1	1	47512186	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	7473936	47512186	201738435	4	13802											
CYP4A22	284541	broad.mit.edu	37	chr1	47606460	47606460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttgacagttccaacaCgaccaggagctacaacggat	12	7	9	13	3	0	1	0	1	0	0	2	4	1	3	3	2	4	3	3	2	3	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:47606460C>T	uc001cqv.1	+	1	255	c.204C>T	c.(202-204)caC>caT	p.H68H	CYP4A22_uc009vyo.3_Silent_p.H68H|CYP4A22_uc009vyp.3_Silent_p.H68H	NM_001010969	NP_001010969	Q5TCH4	CP4AM_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 22 (CYP4A22), mRNA.	68						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTTCCAACACGACCAGGAGC	0.498													T	47606460	C	T	47606460	2	4	200	1	0	0	0	0	0	0	0	1	4217	535	19	1		1	CYP4A22	1	47606460	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	94274	47606460	201644161	5	13803											
CDKN2C	1031	broad.mit.edu	37	chr1	51439583	51439583	+	Frame_Shift_Del	DEL	C	C	-																															aggttatgaaacttggaaatCccgagattgccaggagactg																										TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:51439583delC	uc001csf.3	+	2	2123	c.148delC	c.(148-150)cccfs	p.P50fs	CDKN2C_uc001csg.3_Frame_Shift_Del_p.P50fs	NM_001262	NP_523240	P42773	CDN2C_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4) (CDKN2C), transcript variant 1, mRNA.	50					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		ACTTGGAAATCCCGAGATTGC	0.428			D		"glioma, MM"								-	51439583	C	-	51439583	7	5	200	1	0	1	0	1	0	0	0	0	3195	855	30	0	154	0	CDKN2C	1	51439583	Frame_Shift_Del	DEL	C	TCGA-28-1753-01A-01D-1494-08	3833123	51439583	197811038	6	13804											
FCRLA	84824	broad.mit.edu	37	chr1	161682005	161682005	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagctagagatcagagtgCagggtgagttcgcatcagag	11	7	14	9	1	2	4	2	1	0	3	3	5	2	4	1	1	2	4	1	1	1	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:161682005C>T	uc001gbe.3	+	4	1092	c.850C>T	c.(850-852)Cag>Tag	p.Q284*	FCRLA_uc001gbg.3_Nonsense_Mutation_p.Q138*|FCRLA_uc009wup.3_Intron|FCRLA_uc009wuq.3_Intron|FCRLA_uc001gbd.3_Nonsense_Mutation_p.Q278*|FCRLA_uc001gbf.3_Nonsense_Mutation_p.Q189*|FCRLA_uc009wuo.3_Nonsense_Mutation_p.Q144*	NM_001184866	NP_001171795	Q7L513	FCRLA_HUMAN	Homo sapiens Fc receptor-like A (FCRLA), transcript variant 1, mRNA.	261	Pro-rich.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GATCAGAGTGCAGGGTGAGTT	0.527													T	161682005	C	T	161682005	4	4	200	1	0	0	0	0	0	1	0	0	5849	711	25	2	868	2	FCRLA	1	161682005	Nonsense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	110242422	161682005	87568616	7	13805											
RYR2	6262	broad.mit.edu	37	chr1	237754030	237754030	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagcaacactgatatcAtgttttatcgcctgagcatg	13	11	8	9	1	1	3	1	2	0	1	2	3	1	3	1	0	4	3	1	0	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr1:237754030A>G	uc001hyl.1	+	30	4018	c.3898A>G	c.(3898-3900)Atg>Gtg	p.M1300V		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1300	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.F1299Y(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACTGATATCATGTTTTATCG	0.522													G	237754030	A	G	237754030	3	3	200	1	0	0	0	0	1	0	0	0	13860	217	8	3	4020	3	RYR2	1	237754030	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08	76072025	237754030	11496591	8	13806											
TEKT4	150483	broad.mit.edu	37	chr2	95539765	95539765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggtcagacaagatggagGcctacaacatcgacgagacc	14	5	11	11	2	1	3	1	0	0	3	2	6	1	4	2	3	2	0	2	3	3	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:95539765G>A	uc002stw.1	+	2	718	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	LOC442028_uc021vlc.1_Intron|LOC442028_uc002stv.1_Intron|TEKT4_uc010fhr.1_Non-coding_Transcript	NM_144705	NP_653306	Q8WW24	TEKT4_HUMAN	Homo sapiens tektin 4 (TEKT4), mRNA.	209					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAAGATGGAGGCCTACAACAT	0.652													A	95539765	G	A	95539765	3	1	200	1	0	0	0	0	1	0	0	0	15855	1203	42	2	635	2	TEKT4	2	95539765	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		95539765	147659608	9	13807											
MARCO	8685	broad.mit.edu	37	chr2	119752091	119752091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaggcgtggagtgcagcGtctgacccggaaaccctttc	8	7	13	13	4	1	1	0	1	1	0	2	3	1	3	2	3	3	2	2	3	1	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:119752091G>A	uc002tln.1	+	16	1690	c.1558G>A	c.(1558-1560)Gtc>Atc	p.V520I	MARCO_uc010yyf.1_Missense_Mutation_p.V442I	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	520					cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity	p.V520I(6)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						GGAGTGCAGCGTCTGACCCGG	0.602													A	119752091	G	A	119752091	3	1	200	1	0	0	0	0	1	0	0	0	9386	1145	40	1	1624	1	MARCO	2	119752091	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	24212326	119752091	123447282	10	13808											
NEB	4703	broad.mit.edu	37	chr2	152484105	152484105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgggcaggcacgtccactCgtgcaggtagttcttgtagt	6	11	14	10	3	1	0	0	0	1	0	4	0	2	0	1	3	1	6	1	3	2	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:152484105C>T	uc021vrb.1	-	63	9375	c.9346G>A	c.(9346-9348)Gag>Aag	p.E3116K	NEB_uc002txu.3_Missense_Mutation_p.E3359K|NEB_uc021vrc.1_Missense_Mutation_p.E3359K|NEB_uc010fnx.3_Missense_Mutation_p.E3104K|NEB_uc021vrd.1_Missense_Mutation_p.E3116K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	3116					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CACGTCCACTCGTGCAGGTAG	0.532													T	152484105	C	T	152484105	3	4	200	1	0	0	0	0	1	0	0	0	10378	893	31	1	16067	1	NEB	2	152484105	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	32732014	152484105	90715268	11	13809											
LRP2	4036	broad.mit.edu	37	chr2	170044684	170044684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttactaatgcagcgccCgttctgacaggtaaactgat	10	12	10	9	2	1	2	0	2	1	0	1	2	1	2	1	2	4	4	1	2	4	5			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:170044684C>T	uc002ues.3	-	48	9337	c.9124G>A	c.(9124-9126)Ggg>Agg	p.G3042R		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3042	LDL-receptor class A 24.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATGCAGCGCCCGTTCTGACAG	0.512													T	170044684	C	T	170044684	3	4	200	1	0	0	0	0	1	0	0	0	9026	652	23	1	4967	1	LRP2	2	170044684	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	17560579	170044684	73154689	12	13810											
TTN	7273	broad.mit.edu	37	chr2	179437646	179437646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaggttccccaagtccttCggaattcatggcatagatgc	9	10	11	11	1	1	1	1	0	0	1	4	2	3	2	3	4	1	3	3	4	3	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:179437646C>T	uc021vsy.1	-	274	65734	c.65509G>A	c.(65509-65511)Gaa>Aaa	p.E21837K	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E15532K|TTN_uc021vta.1_Missense_Mutation_p.E15465K|TTN_uc021vtb.1_Missense_Mutation_p.E15340K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22764	Fibronectin type-III 58.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCAAGTCCTTCGGAATTCATG	0.488													T	179437646	C	T	179437646	3	4	200	1	0	0	0	0	1	0	0	0	16837	893	31	1	34914	1	TTN	2	179437646	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	9392962	179437646	63761727	13	13811											
ITGA4	3676	broad.mit.edu	37	chr2	182360569	182360569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgagtcagtaaatagaaCgaaatttgactgtgttgaaa	15	11	9	6	1	1	4	1	3	0	1	1	5	1	4	1	0	1	2	1	0	6	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:182360569C>T	uc002unu.3	+	13	2208	c.1445C>T	c.(1444-1446)aCg>aTg	p.T482M	ITGA4_uc010frj.1_5'Flank	NM_000885	NP_000876	P13612	ITA4_HUMAN	Homo sapiens integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor) (ITGA4), mRNA.	482					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.R481K(1)|p.R481G(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GTAAATAGAACGAAATTTGAC	0.388													T	182360569	C	T	182360569	3	4	200	1	0	0	0	0	1	0	0	0	7936	536	19	1	1499	1	ITGA4	2	182360569	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	2922923	182360569	60838804	14	13812											
BARD1	580	broad.mit.edu	37	chr2	215646041	215646041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacatctgcaggaggaCttggggaaacaaattcatat	16	8	10	7	0	2	1	1	0	1	1	2	4	2	4	0	4	3	1	0	4	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:215646041C>T	uc002veu.2	-	3	692	c.557G>A	c.(556-558)aGt>aAt	p.S186N	BARD1_uc021vwe.1_Missense_Mutation_p.S167N|BARD1_uc021vwf.1_Missense_Mutation_p.S89N|BARD1_uc021vwg.1_Intron|BARD1_uc021vwh.1_Intron|BARD1_uc021vwi.1_Intron|BARD1_uc021vwc.1_Intron|BARD1_uc021vwd.1_Intron|BARD1_uc010zjm.1_Missense_Mutation_p.S42N|BARD1_uc021vwj.1_Missense_Mutation_p.S186N	NM_000465	NP_000456	Q99728	BARD1_HUMAN	Homo sapiens BRCA1 associated RING domain 1 (BARD1), mRNA.	186			S -> G (in dbSNP:rs16852741).		cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TGCAGGAGGACTTGGGGAAAC	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	215646041	C	T	215646041	3	4	200	1	0	0	0	0	1	0	0	0	1317	565	20	2	1808	2	BARD1	2	215646041	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	33285472	215646041	27553332	15	13813											
SPEG	10290	broad.mit.edu	37	chr2	220342016	220342016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacgaggtgctgctgacCgagagcagccatgtgagctt	9	7	15	10	2	0	3	0	2	0	1	0	6	0	4	2	2	5	4	2	2	0	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr2:220342016C>T	uc010fwg.3	+	19	4578	c.4578C>T	c.(4576-4578)acC>acT	p.T1526T		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1526	Ig-like 8.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGCTGCTGACCGAGAGCAGCC	0.642													T	220342016	C	T	220342016	2	4	200	1	0	0	0	0	0	0	0	1	15132	639	23	1		1	SPEG	2	220342016	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	4695975	220342016	22857357	16	13814											
FGD5	152273	broad.mit.edu	37	chr3	14861789	14861789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctccctacagggtggagCggccgagggtcccgcagccc	5	5	16	15	3	0	0	0	0	0	0	2	2	2	1	4	5	3	2	4	5	1	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:14861789C>T	uc003bzc.3	+	0	1321	c.1211C>T	c.(1210-1212)gCg>gTg	p.A404V	FGD5_uc011avk.2_Missense_Mutation_p.A404V	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	404					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGGTGGAGCGGCCGAGGGT	0.647													T	14861789	C	T	14861789	3	4	200	1	0	0	0	0	1	0	0	0	5885	768	27	1	1213	1	FGD5	3	14861789	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		14861789	183160641	17	13815											
CD86	942	broad.mit.edu	37	chr3	121822548	121822548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattccaagtatatgggccGcacaagttttgattcggaca	11	12	9	9	2	1	1	1	1	0	0	3	2	2	2	2	2	0	3	2	2	4	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr3:121822548G>A	uc003eet.3	+	2	382	c.254G>A	c.(253-255)cGc>cAc	p.R85H	CD86_uc011bjo.2_Missense_Mutation_p.R3H|CD86_uc011bjp.2_Intron|CD86_uc003eeu.3_Missense_Mutation_p.R79H|CD86_uc021xcz.1_Missense_Mutation_p.R79H	NM_175862	NP_008820	P42081	CD86_HUMAN	Homo sapiens CD86 molecule (CD86), transcript variant 1, mRNA.	85	Ig-like V-type.				interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TATATGGGCCGCACAAGTTTT	0.423													A	121822548	G	A	121822548	3	1	200	1	0	0	0	0	1	0	0	0	3073	1087	38	1	264	1	CD86	3	121822548	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	106960759	121822548	76199882	18	13816											
SLBP	7884	broad.mit.edu	37	chr4	1701407	1701407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagccggcacagtagaCatagactcctttgaatcaga	14	8	9	10	1	2	4	2	1	0	3	3	4	3	4	2	1	1	2	2	1	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:1701407C>T	uc003gdi.1	-	4	478	c.363G>A	c.(361-363)atG>atA	p.M121I	SLBP_uc003gdk.1_Missense_Mutation_p.M82I|SLBP_uc011bvf.1_Missense_Mutation_p.M86I|SLBP_uc003gdl.1_Missense_Mutation_p.M38I	NM_006527	NP_006518	Q14493	SLBP_HUMAN	Homo sapiens stem-loop binding protein (SLBP), mRNA.	121					DNA replication involved in S phase|histone mRNA 3'-end processing|mRNA export from nucleus|regulation of S phase|termination of RNA polymerase II transcription	cytosol|histone pre-mRNA 3'end processing complex|nucleoplasm	histone pre-mRNA DCP binding|histone pre-mRNA stem-loop binding|protein binding			endometrium(1)|large_intestine(2)|lung(2)	5		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.0055)			GCACAGTAGACATAGACTCCT	0.393													T	1701407	C	T	1701407	3	4	200	1	0	0	0	0	1	0	0	0	14466	478	17	2	465	2	SLBP	4	1701407	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		1701407	189452869	19	13817											
ANK2	287	broad.mit.edu	37	chr4	114278539	114278539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgatgaaatctatgatcCacaaatcactagcccttatg	15	11	6	9	0	2	3	1	3	1	0	3	4	3	3	2	0	1	0	2	0	6	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:114278539C>T	uc003ibe.4	+	37	8865	c.8765C>T	c.(8764-8766)cCa>cTa	p.P2922L	ANK2_uc003ibd.4_Intron|ANK2_uc003ibf.4_Intron|ANK2_uc011cgc.2_Intron|ANK2_uc003ibg.4_Intron|ANK2_uc003ibh.4_Intron|ANK2_uc011cgb.1_Missense_Mutation_p.P2937L	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	2889					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTATGATCCACAAATCACT	0.408													T	114278539	C	T	114278539	3	4	200	1	0	0	0	0	1	0	0	0	621	594	21	2	8980	2	ANK2	4	114278539	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	112577132	114278539	76875737	20	13818											
ZFP42	132625	broad.mit.edu	37	chr4	188924445	188924445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatacctggcattgacCtatcagatcctaaacagctc	13	9	8	11	0	1	2	1	1	0	1	3	4	2	3	3	2	3	2	3	2	5	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr4:188924445C>G	uc003izh.1	+	3	892	c.484C>G	c.(484-486)Cta>Gta	p.L162V	ZFP42_uc003izi.1_Missense_Mutation_p.L162V|ZFP42_uc021xvm.1_Missense_Mutation_p.L162V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	162					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		TGGCATTGACCTATCAGATCC	0.453													G	188924445	C	G	188924445	3	3	200	1	0	0	0	0	1	0	0	0	17751	680	24	4	486	4	ZFP42	4	188924445	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	74645906	188924445	2229831	21	13819											
PCDHB16	57717	broad.mit.edu	37	chr5	140563779	140563779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgaggcgctggtgcgcGtgctggtgctggacgccaac	5	6	18	12	5	0	0	0	0	0	0	0	2	0	1	1	4	5	4	1	4	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:140563779G>T	uc003liv.3	+	0	2800	c.1645G>T	c.(1645-1647)Gtg>Ttg	p.V549L		NM_020957	NP_066008	Q9NRJ7	PCDBG_HUMAN	Homo sapiens protocadherin beta 16 (PCDHB16), mRNA.	549	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGGTGCGCGTGCTGGTGCT	0.711													T	140563779	G	T	140563779	3	4	200	1	0	0	0	0	1	0	0	0	11617	1145	40	4	1647	4	PCDHB16	5	140563779	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		140563779	40351481	22	13820											
GABRG2	2566	broad.mit.edu	37	chr5	161580200	161580200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggctatgagtgtctggaCggcaaggactgtgccagttt	8	11	14	8	2	1	1	0	1	1	0	1	3	1	3	1	4	2	3	1	4	3	3	rs113085352		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr5:161580200C>T	uc010jjc.3	+	10	1732	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	GABRG2_uc003lyy.4_Silent_p.D418D|GABRG2_uc003lyz.4_Silent_p.D410D|GABRG2_uc011dej.2_Silent_p.D315D	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	410					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.D418D(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGTGTCTGGACGGCAAGGACT	0.463													T	161580200	C	T	161580200	2	4	200	1	0	0	0	0	0	0	0	1	6224	535	19	1		1	GABRG2	5	161580200	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	21016421	161580200	19335060	23	13821											
RFX6	222546	broad.mit.edu	37	chr6	117232121	117232121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttcactcgtaaatattcGcttagctcaaaaactggaac	13	11	7	10	2	2	0	2	0	0	0	4	1	2	1	0	2	3	4	0	2	7	5			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr6:117232121G>A	uc003pxm.3	+	6	759	c.696G>A	c.(694-696)tcG>tcA	p.S232S		NM_173560	NP_775831	Q8HWS3	RFX6_HUMAN	Homo sapiens regulatory factor X, 6 (RFX6), mRNA.	232					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GTAAATATTCGCTTAGCTCAA	0.343													A	117232121	G	A	117232121	2	1	200	1	0	0	0	0	0	0	0	1	13355	1074	38	1		1	RFX6	6	117232121	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		117232121	53882946	24	13822											
CD36	948	broad.mit.edu	37	chr7	80300317	80300317	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatgctgtatttgaatcCgacgttaatctgaaaggaat	13	14	8	6	2	2	2	0	2	2	0	3	4	3	3	1	1	1	3	1	1	6	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80300317C>T	uc003uhc.3	+	12	1527	c.843C>T	c.(841-843)tcC>tcT	p.S281S	CD36_uc011kgv.2_Silent_p.S205S|CD36_uc003uhd.4_Silent_p.S281S|CD36_uc003uhe.4_Silent_p.S281S|CD36_uc003uhf.4_Silent_p.S281S|CD36_uc003uhg.4_Silent_p.S281S|CD36_uc003uhh.4_Silent_p.S281S|CD36_uc022agu.1_Silent_p.S242S|CD36_uc022agv.1_Silent_p.S221S	NM_001127444	NP_001120916	P16671	CD36_HUMAN	Homo sapiens CD36 molecule (thrombospondin receptor) (CD36), transcript variant 5, mRNA.	281					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TATTTGAATCCGACGTTAATC	0.388													T	80300317	C	T	80300317	2	4	200	1	0	0	0	0	0	0	0	1	3037	639	23	1		1	CD36	7	80300317	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08		80300317	78838346	25	13823											
SEMA3C	10512	broad.mit.edu	37	chr7	80434993	80434993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgttgatcagttctgaccGcattcctcttggttaaactt	8	17	7	9	1	3	2	1	2	2	0	4	2	4	2	2	1	1	4	2	1	3	7			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:80434993G>A	uc011kgw.2	-	6	753	c.674C>T	c.(673-675)gCg>gTg	p.A225V	SEMA3C_uc003uhj.3_Missense_Mutation_p.A207V|SEMA3C_uc011kgx.1_Missense_Mutation_p.A59V	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	207	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AGTTCTGACCGCATTCCTCTT	0.323													A	80434993	G	A	80434993	3	1	200	1	0	0	0	0	1	0	0	0	14119	1087	38	1	1683	1	SEMA3C	7	80434993	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	134676	80434993	78703670	26	13824											
TES	26136	broad.mit.edu	37	chr7	115892026	115892026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgatgtgctggctgtgaCgaggtatgttctatgggacc	6	11	14	10	2	1	1	0	1	1	0	1	4	1	2	3	3	1	4	3	3	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:115892026C>T	uc003vho.3	+	4	1130	c.915C>T	c.(913-915)gaC>gaT	p.D305D	TES_uc011kmy.2_Silent_p.D63D|TES_uc003vhp.3_Silent_p.D296D|TES_uc022aki.1_Non-coding_Transcript|BD495725_uc003vhq.1_5'Flank	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	305	LIM zinc-binding 2.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			CTGGCTGTGACGAGGTATGTT	0.478													T	115892026	C	T	115892026	2	4	200	1	0	0	0	0	0	0	0	1	15865	535	19	1		1	TES	7	115892026	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	35457033	115892026	43246637	27	13825											
WEE2	494551	broad.mit.edu	37	chr7	141408767	141408767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgagctcgacacatcttCggaaaaagacaaagaaagtc	17	6	9	9	2	1	3	0	1	1	2	4	5	1	4	0	1	1	2	0	1	4	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:141408767C>T	uc003vwn.2	+	0	615	c.209C>T	c.(208-210)tCg>tTg	p.S70L	FLJ40852_uc011krh.1_Intron|FLJ40852_uc010lnm.2_Intron|FLJ40852_uc010lnn.2_Intron|FLJ40852_uc003vwm.3_Intron|FLJ40852_uc010lno.2_Intron	NM_001105558	NP_001099028	P0C1S8	WEE2_HUMAN	Homo sapiens WEE1 homolog 2 (S. pombe) (WEE2), mRNA.	70					egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					GACACATCTTCGGAAAAAGAC	0.517													T	141408767	C	T	141408767	3	4	200	1	0	0	0	0	1	0	0	0	17447	893	31	1	211	1	WEE2	7	141408767	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	25516741	141408767	17729896	28	13826											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060365	144060365	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgaaggctctgaaagTgggactatcaggcaggggga	13	6	16	6	0	2	3	1	2	1	1	2	5	2	5	0	5	0	2	0	5	4	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr7:144060365T>A	uc003wel.3	+	1	721	c.603T>A	c.(601-603)agT>agA	p.S201R	ARHGEF5_uc003wek.3_Missense_Mutation_p.S201R	NM_005435	NP_005426	Q12774	ARHG5_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 5 (ARHGEF5), mRNA.	201					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GCTCTGAAAGTGGGACTATCA	0.532													A	144060365	T	A	144060365	3	1	200	1	0	0	0	0	1	0	0	0	912	1693	59	5	605	5	ARHGEF5	7	144060365	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08	2651598	144060365	15078298	29	13827											
DOCK5	80005	broad.mit.edu	37	chr8	25190203	25190203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacttccttgtgtttgacGcactggtaagcagttaaaca	11	13	9	8	1	0	2	0	2	0	0	1	2	1	2	1	1	2	5	1	1	3	5			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25190203G>A	uc003xeg.3	+	19	2223	c.2086G>A	c.(2086-2088)Gca>Aca	p.A696T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.A410T|DOCK5_uc003xei.3_Missense_Mutation_p.A266T|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	696						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGTGTTTGACGCACTGGTAAG	0.318													A	25190203	G	A	25190203	3	1	200	1	0	0	0	0	1	0	0	0	4729	1087	38	1	2164	1	DOCK5	8	25190203	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		25190203	121173819	30	13828											
DOCK5	80005	broad.mit.edu	37	chr8	25225732	25225732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacatgagaaaggaaatCggctttagaatccgggacat	14	7	14	6	2	0	2	0	1	0	2	2	6	1	5	1	5	0	1	1	5	4	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:25225732C>T	uc003xeg.3	+	31	3386	c.3249C>T	c.(3247-3249)atC>atT	p.I1083I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Silent_p.I797I|DOCK5_uc003xei.3_Silent_p.I653I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1083						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GAAAGGAAATCGGCTTTAGAA	0.413													T	25225732	C	T	25225732	2	4	200	1	0	0	0	0	0	0	0	1	4729	874	31	1		1	DOCK5	8	25225732	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	35529	25225732	121138290	31	13829											
NOV	4856	broad.mit.edu	37	chr8	120431487	120431487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatggggttctccaccCgggtcaccaataggaaccgt	8	9	13	11	2	2	0	1	0	1	0	3	1	2	1	4	5	1	2	4	5	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:120431487C>T	uc003yoq.2	+	3	900	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_002514	NP_002505	P48745	NOV_HUMAN	Homo sapiens nephroblastoma overexpressed gene (NOV), mRNA.	227	TSP type-1.				regulation of cell growth		growth factor activity|insulin-like growth factor binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(3)	21	all_cancers(13;3.84e-26)|Lung NSC(37;1.19e-08)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000507)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTCTCCACCCGGGTCACCAA	0.532													T	120431487	C	T	120431487	3	4	200	1	0	0	0	0	1	0	0	0	10629	643	23	1	693	1	NOV	8	120431487	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	95205755	120431487	25932535	32	13830											
CPSF1	29894	broad.mit.edu	37	chr8	145620691	145620691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatagtgggccgtgcagcGcagcgggatcttcctgacag	8	7	14	12	3	1	1	0	1	1	0	2	2	2	2	2	2	3	2	2	2	1	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr8:145620691G>A	uc003zcj.3	-	26	3130	c.3055C>T	c.(3055-3057)Cgc>Tgc	p.R1019C	MIR939_uc022bcn.1_5'Flank|CPSF1_uc011lld.1_Non-coding_Transcript	NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	1019					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding	p.R1019C(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GCCGTGCAGCGCAGCGGGATC	0.667													A	145620691	G	A	145620691	3	1	200	1	0	0	0	0	1	0	0	0	3855	1087	38	1	1324	1	CPSF1	8	145620691	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	25189204	145620691	743331	33	13831											
UHRF2	115426	broad.mit.edu	37	chr9	6413501	6413501	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgccaagatgtggatacAggttcgcaccattgatggct	10	9	13	9	2	0	2	0	1	0	1	1	3	0	3	2	4	1	3	2	4	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:6413501A>G	uc003zjy.3	+	0	351	c.11A>G	c.(10-12)cAg>cGg	p.Q4R	UHRF2_uc003zjz.3_Non-coding_Transcript	NM_152896	NP_690856	Q96PU4	UHRF2_HUMAN	Homo sapiens ubiquitin-like with PHD and ring finger domains 2 (UHRF2), mRNA.	4	Ubiquitin-like.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		ATGTGGATACAGGTTCGCACC	0.662													G	6413501	A	G	6413501	3	3	200	1	0	0	0	0	1	0	0	0	17072	188	7	3	13	3	UHRF2	9	6413501	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08		6413501	134799930	34	13832											
IPPK	64768	broad.mit.edu	37	chr9	95400529	95400529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcagccacggggctccGggcatctttgcagccgtaaa	8	7	12	14	3	2	0	1	0	1	0	3	0	3	0	4	3	3	4	4	3	2	2	rs146634367		TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr9:95400529G>A	uc004asl.1	-	8	947	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	IPPK_uc004ask.1_5'Flank	NM_022755	NP_073592	Q9H8X2	IPPK_HUMAN	Homo sapiens inositol 1,3,4,5,6-pentakisphosphate 2-kinase (IPPK), mRNA.	224					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						ACGGGGCTCCGGGCATCTTTG	0.562													A	95400529	G	A	95400529	3	1	200	1	0	0	0	0	1	0	0	0	7859	1115	39	1	825	1	IPPK	9	95400529	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	88987028	95400529	45812902	35	13833											
KIF5B	3799	broad.mit.edu	37	chr10	32306085	32306085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaccaatctgtgcagaaTgccctcttctggccatattc	10	12	6	13	0	3	1	0	0	3	1	4	1	3	1	3	1	3	1	3	1	4	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:32306085T>C	uc001iwe.4	-	23	3217	c.2747A>G	c.(2746-2748)cAt>cGt	p.H916R		NM_004521	NP_004512	P33176	KINH_HUMAN	Homo sapiens kinesin family member 5B (KIF5B), mRNA.	916	Globular.				stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				CTGTGCAGAATGCCCTCTTCT	0.383			T	"RET, ALK"	NSCLC								C	32306085	T	C	32306085	3	2	200	1	0	0	0	0	1	0	0	0	8364	1464	51	3	152	3	KIF5B	10	32306085	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08		32306085	103228662	36	13834											
PTEN	5728	broad.mit.edu	37	chr10	89720857	89720857	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagacaaagccaaccgataCttttctccaaattttaaggt	16	11	5	9	1	1	1	0	0	1	1	2	2	1	1	3	1	3	0	3	1	6	5			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr10:89720857C>A	uc001kfb.3	+	7	2040	c.1008C>A	c.(1006-1008)taC>taA	p.Y336*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	336	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.Y336*(10)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.W274_F341del(2)|p.D326_K342del(2)|p.R335fs*8(1)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335fs*7(1)|p.R335G(1)|p.Y336F(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCAACCGATACTTTTCTCCAA	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720857	C	A	89720857	4	1	200	1	0	0	0	0	0	1	0	0	12823	576	20	4	1038	4	PTEN	10	89720857	Nonsense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	57414772	89720857	45813890	37	13835											
SLC6A13	6540	broad.mit.edu	37	chr12	333249	333249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttgcggaacacgtgaGggtacatgtccaccagcgct	8	10	11	12	3	2	1	0	1	2	0	3	2	3	2	2	2	4	2	2	2	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:333249G>A	uc001qic.2	-	10	1310	c.1220C>T	c.(1219-1221)cCt>cTt	p.P407L	SLC6A13_uc009zdj.2_Missense_Mutation_p.P397L|SLC6A13_uc010sdl.2_Missense_Mutation_p.P315L	NM_016615	NP_057699	Q9NSD5	S6A13_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, GABA), member 13 (SLC6A13), transcript variant 1, mRNA.	407					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			GAACACGTGAGGGTACATGTC	0.562													A	333249	G	A	333249	3	1	200	1	0	0	0	0	1	0	0	0	14770	1000	35	2	608	2	SLC6A13	12	333249	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		333249	133518646	38	13836											
SLCO1B3	338821	broad.mit.edu	37	chr12	21201718	21201718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattaaaaaattcaaattgtCtttagttggacttgccaaat	15	15	5	6	0	2	0	1	0	1	0	2	1	2	1	1	1	1	1	1	1	6	7			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:21201718C>T	uc010sil.2	+						SLCO1B3_uc010sim.2_Missense_Mutation_p.S403F|SLCO1B3_uc010sin.2_Missense_Mutation_p.S356F			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCAAATTGTCTTTAGTTGGA	0.353													T	21201718	C	T	21201718	3	4	200	1	0	0	0	0	1	0	0	0	14818	913	32	2		2	SLCO1B3	12	21201718	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	20868469	21201718	112650177	39	13837											
E2F7	144455	broad.mit.edu	37	chr12	77426878	77426878	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacagctgccaggcttccaAtttctaaagagtagccacct	12	9	8	12	0	1	2	0	0	1	2	2	2	2	2	4	1	3	3	4	1	4	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:77426878A>G	uc001sym.4	-	8	1570	c.1334T>C	c.(1333-1335)aTt>aCt	p.I445T	E2F7_uc009zse.3_5'Flank	NM_203394	NP_976328	Q96AV8	E2F7_HUMAN	Homo sapiens E2F transcription factor 7 (E2F7), mRNA.	445					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGGCTTCCAATTTCTAAAGA	0.353													G	77426878	A	G	77426878	3	3	200	1	0	0	0	0	1	0	0	0	4911	101	4	3	1421	3	E2F7	12	77426878	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08	56225160	77426878	56425017	40	13838											
RPH3A	22895	broad.mit.edu	37	chr12	113313505	113313505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaggaggaagcagacCgggtcctgggccagcaggac	10	2	16	13	1	0	1	0	0	0	1	1	5	1	4	5	5	2	2	5	5	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr12:113313505C>T	uc010syl.2	+	11	1267	c.905C>T	c.(904-906)cCg>cTg	p.P302L	RPH3A_uc001ttz.3_Missense_Mutation_p.P302L|RPH3A_uc001tty.3_Missense_Mutation_p.P298L|RPH3A_uc009zwe.1_Missense_Mutation_p.P298L|RPH3A_uc010sym.2_Missense_Mutation_p.P253L|RPH3A_uc001tua.3_Missense_Mutation_p.P62L	NM_001143854	NP_001137326	Q9Y2J0	RP3A_HUMAN	Homo sapiens rabphilin 3A homolog (mouse) (RPH3A), transcript variant 1, mRNA.	302	Pro-rich.				intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding	p.G301R(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GGAAGCAGACCGGGTCCTGGG	0.577													T	113313505	C	T	113313505	3	4	200	1	0	0	0	0	1	0	0	0	13642	652	23	1	943	1	RPH3A	12	113313505	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	35886627	113313505	20538390	41	13839											
SLC7A1	6541	broad.mit.edu	37	chr13	30110213	30110213	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccaccccgagggccAccagatcaaaagtgttcagg	10	6	11	14	1	2	1	2	0	0	1	2	2	2	1	5	2	2	2	5	2	2	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:30110213A>G	uc001uso.3	-	2	500	c.113T>C	c.(112-114)gTg>gCg	p.V38A		NM_003045	NP_003036	P30825	CTR1_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 1 (SLC7A1), mRNA.	38					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCGAGGGCCACCAGATCAAA	0.627													G	30110213	A	G	30110213	3	3	200	1	0	0	0	0	1	0	0	0	14786	159	6	3	1820	3	SLC7A1	13	30110213	Missense_Mutation	SNP	A	TCGA-28-1753-01A-01D-1494-08		30110213	85059665	42	13840											
SPERT	220082	broad.mit.edu	37	chr13	46287863	46287863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagaaggaccacgtcGccctgcaggtgccccgtggc	7	6	15	13	3	0	2	0	1	0	1	1	3	0	3	4	4	2	1	4	4	2	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr13:46287863G>A	uc001van.1	+	2	783	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	SPERT_uc001vao.2_Missense_Mutation_p.A199T	NM_152719	NP_689932	Q8NA61	SPERT_HUMAN	Homo sapiens spermatid associated (SPERT), mRNA.	235						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		GGACCACGTCGCCCTGCAGGT	0.677													A	46287863	G	A	46287863	3	1	200	1	0	0	0	0	1	0	0	0	15135	1087	38	1	713	1	SPERT	13	46287863	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	16177650	46287863	68882015	43	13841											
C15orf2	23742	broad.mit.edu	37	chr15	24921157	24921157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccccgcgccctttccGcggcctgttccgccggaacg	4	6	10	21	7	0	0	0	0	0	0	2	1	2	1	8	2	1	1	8	2	1	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:24921157G>A	uc001ywo.3	+	0	617	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	48					cell differentiation|multicellular organismal development|spermatogenesis					NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		CGCCCTTTCCGCGGCCTGTTC	0.761													A	24921157	G	A	24921157	3	1	200	1	0	0	0	0	1	0	0	0	1797	1087	38	1	145	1	C15orf2	15	24921157	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		24921157	77610235	44	13842											
SPPL2A	84888	broad.mit.edu	37	chr15	51031880	51031880	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatatgacttcttacccaAccatttgtagaagaaataaa	19	11	4	7	0	1	3	0	1	1	2	1	3	1	3	2	0	2	1	2	0	10	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:51031880A>G	uc001zyv.3	-	5	910	c.730T>C	c.(730-732)Ttg>Ctg	p.L244L		NM_032802	NP_116191	Q8TCT8	PSL2_HUMAN	Homo sapiens signal peptide peptidase-like 2A (SPPL2A), mRNA.	244						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		TTCTTACCCAACCATTTGTAG	0.308													G	51031880	A	G	51031880	2	3	200	1	0	0	0	0	0	0	0	1	15184	40	2	3		3	SPPL2A	15	51031880	Silent	SNP	A	TCGA-28-1753-01A-01D-1494-08	26110723	51031880	51499512	45	13843											
LARP6	55323	broad.mit.edu	37	chr15	71128745	71128745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcagaaaagtagaattcGatctgatccaccagtttctt	13	13	6	9	1	4	3	2	1	2	2	6	4	5	3	2	0	0	2	2	0	4	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr15:71128745G>A	uc002ass.3	-	1	371	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_018357	NP_060827	Q9BRS8	LARP6_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 6 (LARP6), transcript variant 1, mRNA.	100	HTH La-type RNA-binding.				RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGTAGAATTCGATCTGATCCA	0.502													A	71128745	G	A	71128745	2	1	200	1	0	0	0	0	0	0	0	1	8691	1048	37	1		1	LARP6	15	71128745	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08	20096865	71128745	31402647	46	13844											
MSLNL	401827	broad.mit.edu	37	chr16	820272	820272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccagcagcgcagtcaCgttgccaacatccaggctct	8	7	11	15	2	2	0	1	0	1	0	3	0	3	0	3	2	4	4	3	2	1	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:820272C>T	uc002cjz.1	-	14	2713	c.2713G>A	c.(2713-2715)Gtg>Atg	p.V905M	MIR662_uc021tac.1_Non-coding_Transcript	NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	554					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						AGCGCAGTCACGTTGCCAACA	0.692													T	820272	C	T	820272	3	4	200	1	0	0	0	0	1	0	0	0	9958	536	19	1	456	1	MSLNL	16	820272	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		820272	89534481	47	13845											
OSGIN1	29948	broad.mit.edu	37	chr16	83994249	83994249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctttgatgcccttctaCgcccagacacagactttggg	7	12	9	13	1	2	3	0	1	2	2	2	3	2	3	2	1	3	1	2	1	1	4	rs62640906	byFrequency	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr16:83994249C>T	uc002fha.3	+	4	529	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	OSGIN1_uc002fhb.3_Missense_Mutation_p.R94C|OSGIN1_uc002fhc.3_Missense_Mutation_p.R94C	NM_182981	NP_892026	Q9UJX0	OSGI1_HUMAN	Homo sapiens oxidative stress induced growth inhibitor 1 (OSGIN1), nuclear gene encoding mitochondrial protein, mRNA.	177					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						TGCCCTTCTACGCCCAGACAC	0.632													T	83994249	C	T	83994249	3	4	200	1	0	0	0	0	1	0	0	0	11365	536	19	1	547	1	OSGIN1	16	83994249	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	83173977	83994249	6360504	48	13846											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	200	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08		7577120	73618090	49	13847											
SPAG5	124923	broad.mit.edu	37	chr17	26939067	26939067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacttaactctaccttcaCatctcgatgcatgatgccca	11	11	5	14	1	3	1	1	1	2	0	4	2	3	1	2	0	5	2	2	0	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:26939067C>T	uc010crq.2	-	6	720	c.688G>A	c.(688-690)Gtg>Atg	p.V230M	SPAG5_uc010waq.1_Intron|SPAG5-AS1_uc021tts.1_Intron|SPAG5_uc010war.1_Non-coding_Transcript|SPAG5_uc021ttt.1_Missense_Mutation_p.V230M	NM_001174103	NP_001167574	Q96R06	SPAG5_HUMAN	Homo sapiens uncharacterized serine/threonine-protein kinase SgK494 (SGK494), mRNA.	1019					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTACCTTCACATCTCGATGC	0.443													T	26939067	C	T	26939067	3	4	200	1	0	0	0	0	1	0	0	0	15077	478	17	2		2	SPAG5	17	26939067	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	19361947	26939067	54256143	50	13848											
KIF2B	84643	broad.mit.edu	37	chr17	51901460	51901460	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcaaagtctatgggacaTtttttgagatttatgggggc	10	14	11	6	0	2	1	1	1	1	1	2	3	2	2	1	3	0	0	1	3	3	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:51901460T>A	uc002iua.2	+	0	1222	c.1066T>A	c.(1066-1068)Ttt>Att	p.F356I	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	356	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CTATGGGACATTTTTTGAGAT	0.453													A	51901460	T	A	51901460	3	1	200	1	0	0	0	0	1	0	0	0	8356	1493	52	5	1068	5	KIF2B	17	51901460	Missense_Mutation	SNP	T	TCGA-28-1753-01A-01D-1494-08	24962393	51901460	29293750	51	13849											
USH1G	124590	broad.mit.edu	37	chr17	72916669	72916669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcaccagatgttggctcCgaaggacaccaggaaggaca	13	5	13	10	1	0	1	0	0	0	1	1	5	1	4	3	5	0	3	3	5	3	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:72916669C>T	uc002jme.1	-	1	445	c.262G>A	c.(262-264)Gga>Aga	p.G88R	USH1G_uc010wro.1_5'UTR	NM_173477	NP_775748	Q495M9	USH1G_HUMAN	Homo sapiens Usher syndrome 1G (autosomal recessive) (USH1G), mRNA.	88					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					ATGTTGGCTCCGAAGGACACC	0.602													T	72916669	C	T	72916669	3	4	200	1	0	0	0	0	1	0	0	0	17137	661	23	1	1131	1	USH1G	17	72916669	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	21015209	72916669	8278541	52	13850											
DNAH17	8632	broad.mit.edu	37	chr17	76502887	76502887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggaaagccagtcttttcGtctctaaatactctgccaaa	11	11	9	10	1	3	0	0	0	3	0	5	1	3	1	2	2	3	0	2	2	5	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr17:76502887G>A	uc010dhp.2	-	29	4843	c.4718C>T	c.(4717-4719)aCg>aTg	p.T1573M		NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.T1570M(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGTCTTTTCGTCTCTAAATA	0.557													A	76502887	G	A	76502887	3	1	200	1	0	0	0	0	1	0	0	0	4640	1145	40	1	8878	1	DNAH17	17	76502887	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	3586218	76502887	4692323	53	13851											
SIPA1L3	23094	broad.mit.edu	37	chr19	38655177	38655177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctccagcaacgcatccaGcagccacagcgacgaccgct	10	4	8	19	4	1	0	0	0	1	0	3	2	2	0	5	0	5	4	5	0	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:38655177G>T	uc002ohk.3	+	14	4348	c.3839G>T	c.(3838-3840)aGc>aTc	p.S1280I		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	1280					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AACGCATCCAGCAGCCACAGC	0.607													T	38655177	G	T	38655177	3	4	200	1	0	0	0	0	1	0	0	0	14425	971	34	4	3889	4	SIPA1L3	19	38655177	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08		38655177	20473806	54	13852											
LILRB2	10288	broad.mit.edu	37	chr19	54780739	54780739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggagcagtaggacgaCggccaccaagatgccgatca	13	3	15	10	3	1	1	1	0	0	1	1	7	1	4	3	4	2	2	3	4	2	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:54780739C>T	uc002qfb.3	-	9	1671	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.V469I|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.V468I|LILRB2_uc010yet.2_Missense_Mutation_p.V353I	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	469					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		agtaggaCGACGGCCACCAAG	0.577													T	54780739	C	T	54780739	3	4	200	1	0	0	0	0	1	0	0	0	8851	536	19	1	411	1	LILRB2	19	54780739	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	16125562	54780739	4348244	55	13853											
LILRB1	10859	broad.mit.edu	37	chr19	55146136	55146136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcggcatcttggtggccGtcatcctactgctcctcctc	4	13	9	15	2	2	1	1	1	1	0	7	1	5	1	4	3	2	2	4	3	1	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr19:55146136G>A	uc002qgj.3	+	10	1745	c.1405G>A	c.(1405-1407)Gtc>Atc	p.V469I	LILRB1_uc010erp.1_Missense_Mutation_p.V84I|LILRB1_uc002qgl.3_Missense_Mutation_p.V469I|LILRB1_uc002qgk.3_Missense_Mutation_p.V470I|LILRB1_uc002qgm.3_Missense_Mutation_p.V470I|LILRB1_uc010erq.3_Missense_Mutation_p.V453I|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	469					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CTTGGTGGCCGTCAtcctact	0.577										HNSCC(37;0.09)			A	55146136	G	A	55146136	3	1	200	1	0	0	0	0	1	0	0	0	8850	1145	40	1	1442	1	LILRB1	19	55146136	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	365397	55146136	3982847	56	13854											
TPTE	7179	broad.mit.edu	37	chr21	10951337	10951337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagagaaatagaacgataCtccaaaggaatataaagttt	19	9	8	5	1	0	2	0	0	0	2	1	5	1	3	1	1	2	2	1	1	10	6			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:10951337C>T	uc002yip.1	-	9	743	c.375G>A	c.(373-375)gaG>gaA	p.E125E	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.E107E|TPTE_uc002yir.1_Silent_p.E87E|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	125					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAGAACGATACTCCAAAGGAA	0.328													T	10951337	C	T	10951337	2	4	200	1	0	0	0	0	0	0	0	1	16531	564	20	2		2	TPTE	21	10951337	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08		10951337	37178558	57	13855											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986020	31986020	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcctcaataatagtaGccagagccagagccgcatcc	12	7	9	13	1	1	2	1	0	0	2	3	2	3	2	5	1	3	3	5	1	4	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:31986020G>T	uc002yop.3	-	0	204	c.204C>A	c.(202-204)ggC>ggA	p.G68G	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	68						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						AATAATAGTAGCCAGAGCCAG	0.537													T	31986020	G	T	31986020	2	4	200	1	0	0	0	0	0	0	0	1	8628	958	34	4		4	KRTAP6-1	21	31986020	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08	21034683	31986020	16143875	58	13856											
ITSN1	6453	broad.mit.edu	37	chr21	35254584	35254584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaccaattgcttggggcCgcgcaaatttctgcacagtg	9	10	12	10	2	1	1	0	1	1	0	1	1	1	1	2	2	2	3	2	2	2	3			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:35254584C>T	uc002yta.1	+	34	4647	c.4379C>T	c.(4378-4380)cCg>cTg	p.P1460L	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.P1455L|ITSN1_uc002ytj.2_Missense_Mutation_p.P1399L|ITSN1_uc010gmm.1_Non-coding_Transcript|ITSN1_uc010gmn.1_Intron|ITSN1_uc002ytk.1_Intron	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1460					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TGCTTGGGGCCGCGCAAATTT	0.473													T	35254584	C	T	35254584	3	4	200	1	0	0	0	0	1	0	0	0	7984	652	23	1	4519	1	ITSN1	21	35254584	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	3268564	35254584	12875311	59	13857											
DIP2A	23181	broad.mit.edu	37	chr21	47957153	47957153	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagctgaaacattaacaaaCgtgctggatttcaaaaggga	16	8	10	7	1	1	1	1	1	0	0	1	3	1	3	0	2	5	3	0	2	5	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr21:47957153C>T	uc002zjo.2	+	13	1842	c.1659C>T	c.(1657-1659)aaC>aaT	p.N553N	DIP2A_uc011afy.1_Silent_p.N489N|DIP2A_uc011afz.1_Silent_p.N549N|DIP2A_uc002zjl.3_Silent_p.N553N|DIP2A_uc002zjm.3_Silent_p.N553N|DIP2A_uc010gql.3_Silent_p.N510N|DIP2A_uc002zjn.3_Silent_p.N553N|DIP2A_uc002zjp.1_Silent_p.N298N|DIP2A_uc002zjq.3_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	553					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CATTAACAAACGTGCTGGATT	0.443													T	47957153	C	T	47957153	2	4	200	1	0	0	0	0	0	0	0	1	4566	535	19	1		1	DIP2A	21	47957153	Silent	SNP	C	TCGA-28-1753-01A-01D-1494-08	12702569	47957153	172742	60	13858											
SUSD2	56241	broad.mit.edu	37	chr22	24582099	24582099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgacctgagggtgcaggcGcgggcccagcccgggacgat	7	3	17	14	5	0	1	0	1	0	0	0	4	0	2	4	4	2	1	4	4	0	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chr22:24582099G>A	uc002zzn.1	+	8	1499	c.1455G>A	c.(1453-1455)gcG>gcA	p.A485A		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	485	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GGGTGCAGGCGCGGGCCCAGC	0.647													A	24582099	G	A	24582099	2	1	200	1	0	0	0	0	0	0	0	1	15504	1074	38	1		1	SUSD2	22	24582099	Silent	SNP	G	TCGA-28-1753-01A-01D-1494-08		24582099	26722467	61	13859											
CYBB	1536	broad.mit.edu	37	chrX	37668843	37668843	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcactttgctgtgcaccaTgatgaggagaaagatgtgat	13	11	11	6	0	1	5	1	3	0	2	1	6	1	5	1	1	2	2	1	1	2	1			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:37668843T>C	uc004ddr.2	+	11	1546	c.1485T>C	c.(1483-1485)caT>caC	p.H495H	CYBB_uc011mkf.1_Silent_p.H463H|CYBB_uc011mkg.1_Silent_p.H228H	NM_000397	NP_000388	P04839	CY24B_HUMAN	Homo sapiens cytochrome b-245, beta polypeptide (CYBB), mRNA.	495					electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						CTGTGCACCATGATGAGGAGA	0.398													C	37668843	T	C	37668843	2	2	200	1	0	0	0	0	0	0	0	1	4166	1461	51	3		3	CYBB	23	37668843	Silent	SNP	T	TCGA-28-1753-01A-01D-1494-08		37668843	117601717	62	13860											
GDPD2	54857	broad.mit.edu	37	chrX	69652284	69652284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgctgcagcagatgCgttaccctatctggcttatt	7	12	10	12	1	1	1	0	0	1	1	1	1	1	1	2	1	6	6	2	1	3	4			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:69652284C>T	uc011mpk.2	+	13	1949	c.1588C>T	c.(1588-1590)Cgt>Tgt	p.R530C	GDPD2_uc010nky.2_3'UTR|GDPD2_uc004dyh.3_Missense_Mutation_p.R479C|GDPD2_uc011mpl.2_Missense_Mutation_p.R400C|GDPD2_uc011mpm.2_Missense_Mutation_p.R400C	NM_001171192	NP_001164663	Q9HCC8	GDPD2_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 2 (GDPD2), transcript variant 1, mRNA.	479					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	p.R479C(1)|p.L530L(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCAGCAGATGCGTTACCCTAT	0.522													T	69652284	C	T	69652284	3	4	200	1	0	0	0	0	1	0	0	0	6380	768	27	1	1638	1	GDPD2	23	69652284	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	31983441	69652284	85618276	63	13861											
NXF3	56000	broad.mit.edu	37	chrX	102337213	102337213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtatccgagaaggtcGtgcacactgggcttctgtcc	7	10	14	10	2	1	1	0	0	1	1	4	3	3	2	2	4	1	3	2	4	2	2			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:102337213G>A	uc004eju.3	-	8	931	c.860C>T	c.(859-861)aCg>aTg	p.T287M	NXF3_uc010noi.1_Missense_Mutation_p.T137M|NXF3_uc011mrw.1_Missense_Mutation_p.T287M|NXF3_uc011mrx.1_Missense_Mutation_p.T198M	NM_022052	NP_071335	Q9H4D5	NXF3_HUMAN	Homo sapiens nuclear RNA export factor 3 (NXF3), mRNA.	287						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CGAGAAGGTCGTGCACACTGG	0.542													A	102337213	G	A	102337213	3	1	200	1	0	0	0	0	1	0	0	0	10861	1145	40	1	779	1	NXF3	23	102337213	Missense_Mutation	SNP	G	TCGA-28-1753-01A-01D-1494-08	32684929	102337213	52933347	64	13862											
IRS4	8471	broad.mit.edu	37	chrX	107978476	107978476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tctgagccagcctcccggctCgagcggcaccaagcccaggt	7	5	12	17	3	1	1	0	1	1	0	3	2	2	1	5	3	4	2	5	3	1	0			TCGA-28-1753-01A-01D-1494-08	TCGA-28-1753-10B-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c7143f1e-458c-4129-aa91-61b8e4b90e53	d9fdefb1-7ff6-435d-8319-2c99e82383e6	g.chrX:107978476C>G	uc004eoc.2	-	0	1132	c.1099G>C	c.(1099-1101)Gag>Cag	p.E367Q		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	367						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CCTCCCGGCTCGAGCGGCACC	0.632													G	107978476	C	G	107978476	3	3	200	1	0	0	0	0	1	0	0	0	7900	893	31	4	2678	4	IRS4	23	107978476	Missense_Mutation	SNP	C	TCGA-28-1753-01A-01D-1494-08	5641263	107978476	47292084	65	13863											
CTSS	1520	broad.mit.edu	37	chr1	150727568	150727568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgacttatatgtgatatttCtctgccactggctgggaact	8	16	9	8	0	1	2	0	2	1	0	2	3	1	3	1	2	2	1	1	2	4	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr1:150727568C>T	uc001evn.3	-	3	569	c.308G>A	c.(307-309)aGa>aAa	p.R103K	CTSS_uc010pcj.2_Intron	NM_004079	NP_004070	P25774	CATS_HUMAN	Homo sapiens cathepsin S (CTSS), transcript variant 1, mRNA.	103					immune response|proteolysis	extracellular region|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	15	all_cancers(9;6.17e-52)|all_epithelial(9;9.7e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.00146)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0485)|Epithelial(6;5.02e-21)|all cancers(9;1.28e-20)|OV - Ovarian serous cystadenocarcinoma(6;1.09e-14)|BRCA - Breast invasive adenocarcinoma(12;0.00501)|LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGATATTTCTCTGCCACTG	0.408													T	150727568	C	T	150727568	3	4	201	1	0	0	0	0	1	0	0	0	4074	913	32	2	707	2	CTSS	1	150727568	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		150727568	98523053	1	13864											
SPP2	6694	broad.mit.edu	37	chr2	234967547	234967547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccgggagactacatgcaGgaaggattctggagaagatc	13	7	13	8	1	1	3	0	0	1	3	3	7	2	5	1	4	2	1	1	4	3	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr2:234967547G>A	uc002vvk.1	+	2	363	c.278G>A	c.(277-279)aGg>aAg	p.R93K	SPP2_uc010fyl.1_Missense_Mutation_p.R13K	NM_006944	NP_008875	Q13103	SPP24_HUMAN	Homo sapiens secreted phosphoprotein 2, 24kDa (SPP2), mRNA.	93					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		ACTACATGCAGGAAGGATTCT	0.453													A	234967547	G	A	234967547	3	1	201	1	0	0	0	0	1	0	0	0	15183	1000	35	2	288	2	SPP2	2	234967547	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		234967547	8231826	2	13865											
NFXL1	152518	broad.mit.edu	37	chr4	47886362	47886362	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgaaattctaatacttaCataggaataggaacttgaca	18	12	6	5	0	1	2	0	2	1	0	1	4	1	4	0	2	3	0	0	2	9	8			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:47886362C>T	uc010igh.3	-	15	2093	c.1916_splice	c.e15+1	p.M639_splice	NFXL1_uc003gxp.3_Splice_Site_p.M639_splice|NFXL1_uc003gxq.4_Splice_Site|NFXL1_uc010igi.3_Splice_Site_p.M639_splice	NM_152995	NP_694540	Q6ZNB6	NFXL1_HUMAN	Homo sapiens nuclear transcription factor, X-box binding-like 1 (NFXL1), mRNA.	639						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CTAATACTTACATAGGAATAG	0.368													T	47886362	C	T	47886362	5	4	201	1	0	0	0	0	0	0	1	0	10464	492	17	2	854	2	NFXL1	4	47886362	Splice_Site	SNP	C	TCGA-28-2499-01A-01D-1494-08		47886362	143267914	3	13866											
FRAS1	80144	broad.mit.edu	37	chr4	79402982	79402982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagattccagttatccGccatggtactgacctctcta	11	12	7	11	1	1	2	0	1	1	1	4	2	3	2	4	1	1	3	4	1	5	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr4:79402982G>A	uc003hlb.2	+	56	8908	c.8468G>A	c.(8467-8469)cGc>cAc	p.R2823H		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2818	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CCAGTTATCCGCCATGGTACT	0.468													A	79402982	G	A	79402982	3	1	201	1	0	0	0	0	1	0	0	0	6093	1087	38	1	8769	1	FRAS1	4	79402982	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	31516620	79402982	111751294	4	13867											
CDH9	1007	broad.mit.edu	37	chr5	26902807	26902807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacttgcatccactcttaaaGtatagagcatttgattttca	12	16	5	8	0	2	2	1	1	1	1	3	2	3	2	1	0	3	3	1	0	5	8			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:26902807G>T	uc003jgs.1	-	6	1200	c.1031C>A	c.(1030-1032)aCt>aAt	p.T344N		NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	344	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CACTCTTAAAGTATAGAGCAT	0.328													T	26902807	G	T	26902807	3	4	201	1	0	0	0	0	1	0	0	0	3147	1029	36	4	1362	4	CDH9	5	26902807	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		26902807	154012453	5	13868											
PTCD2	79810	broad.mit.edu	37	chr5	71618025	71618025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctacttacagataatGtggtgaaattaaaagaattt	17	13	7	4	0	0	3	0	1	0	2	0	4	0	3	1	1	3	0	1	1	8	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:71618025G>A	uc003kcb.3	+	1	164	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.V52M|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	52										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TACAGATAATGTGGTGAAATT	0.284													A	71618025	G	A	71618025	3	1	201	1	0	0	0	0	1	0	0	0	12813	1377	48	2	160	2	PTCD2	5	71618025	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	44715218	71618025	109297235	6	13869											
VDAC1	7416	broad.mit.edu	37	chr5	133326760	133326760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttctctgtaaacgtcaggCcgtactcagtccatctgtac	9	13	7	12	2	4	0	2	0	2	0	6	0	5	0	2	1	3	3	2	1	4	4			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr5:133326760C>T	uc003kyp.2	-	3	526	c.203G>A	c.(202-204)gGc>gAc	p.G68D	VDAC1_uc003kyq.2_Missense_Mutation_p.G68D|VDAC1_uc003kyr.2_Missense_Mutation_p.G68D	NM_003374	NP_003365	P21796	VDAC1_HUMAN	Homo sapiens voltage-dependent anion channel 1 (VDAC1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	68					apoptosis|interspecies interaction between organisms	mitochondrial nucleoid|mitochondrial outer membrane|plasma membrane|pore complex	porin activity|protein binding|voltage-gated anion channel activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)		Dihydroxyaluminium(DB01375)	AAACGTCAGGCCGTACTCAGT	0.463													T	133326760	C	T	133326760	3	4	201	1	0	0	0	0	1	0	0	0	17248	739	26	2	672	2	VDAC1	5	133326760	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	61708735	133326760	47588500	7	13870											
TAP2	6891	broad.mit.edu	37	chr6	32782892	32782892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccatccacggcctgtctgCtcctctccaagagatccagc	7	8	7	19	1	2	1	0	0	2	1	6	2	5	1	7	1	2	1	7	1	1	0			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:32782892C>T	uc011dqf.1	-	12	2233	c.2111G>A	c.(2110-2112)aGc>aAc	p.S704N	TAP2_uc003oca.3_Missense_Mutation_p.S97N|TAP2_uc011dqg.1_Missense_Mutation_p.S97N	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGCCTGTCTGCTCCTCTCCAA	0.592													T	32782892	C	T	32782892	3	4	201	1	0	0	0	0	1	0	0	0	15648	797	28	2		2	TAP2	6	32782892	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		32782892	138332175	8	13871											
FAM83B	222584	broad.mit.edu	37	chr6	54806575	54806575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatcggcgtgtttacagtCgttttgagccgttttgtaag	6	16	12	7	4	0	2	0	2	0	0	2	2	0	2	1	1	2	4	1	1	2	7			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr6:54806575C>T	uc003pck.3	+	4	2922	c.2806C>T	c.(2806-2808)Cgt>Tgt	p.R936C		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	936								p.R936H(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGTTTACAGTCGTTTTGAGCC	0.438													T	54806575	C	T	54806575	3	4	201	1	0	0	0	0	1	0	0	0	5684	884	31	1	2820	1	FAM83B	6	54806575	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	22023683	54806575	116308492	9	13872											
DDX56	54606	broad.mit.edu	37	chr7	44611974	44611974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatatcagctccttgagtGcttgtacgtcctcgttaaaa	10	14	8	9	2	1	1	1	1	0	0	4	1	3	1	2	0	3	5	2	0	5	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:44611974G>A	uc003tlg.3	-	4	1260	c.617C>T	c.(616-618)gCa>gTa	p.A206V	DDX56_uc003tlh.3_Non-coding_Transcript|DDX56_uc010kyg.3_Missense_Mutation_p.A206V|DDX56_uc010kyh.1_Non-coding_Transcript	NM_019082	NP_061955	Q9NY93	DDX56_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 56 (DDX56), mRNA.	206	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCCTTGAGTGCTTGTACGTC	0.473													A	44611974	G	A	44611974	3	1	201	1	0	0	0	0	1	0	0	0	4408	1319	46	2	1066	2	DDX56	7	44611974	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		44611974	114526689	10	13873											
MAGI2	9863	broad.mit.edu	37	chr7	77756518	77756518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccgggaggaggtacctggGgttgtctgtagtccgacaga	7	9	16	9	2	1	1	0	0	1	1	3	4	3	3	3	5	1	3	3	5	2	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:77756518G>T	uc003ugx.3	-	18	3673	c.3419C>A	c.(3418-3420)cCc>cAc	p.P1140H	MAGI2_uc003ugy.3_Missense_Mutation_p.P1126H|MAGI2_uc010ldx.1_Missense_Mutation_p.P733H	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	1140						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGGTACCTGGGGTTGTCTGTA	0.597													T	77756518	G	T	77756518	3	4	201	1	0	0	0	0	1	0	0	0	9266	1232	43	4	964	4	MAGI2	7	77756518	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	33144544	77756518	81382145	11	13874											
LAMB4	22798	broad.mit.edu	37	chr7	107746315	107746315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctgcatagggcgacattCgctagcatggccattgcaaa	10	10	10	11	2	1	0	0	0	1	0	2	1	1	0	1	2	3	4	1	2	3	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr7:107746315C>T	uc010ljo.1	-	7	901	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	LAMB4_uc003vey.2_Missense_Mutation_p.E273K	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	273	Laminin EGF-like 1.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GGGCGACATTCGCTAGCATGG	0.468													T	107746315	C	T	107746315	3	4	201	1	0	0	0	0	1	0	0	0	8672	893	31	1	4576	1	LAMB4	7	107746315	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	29989797	107746315	51392348	12	13875											
LGI3	203190	broad.mit.edu	37	chr8	22005999	22005999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtcgccaatgtagcGgctgaggcacaggtagctgt	8	9	15	9	2	0	1	0	1	0	0	1	2	0	2	1	4	2	5	1	4	3	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:22005999G>A	uc003xav.3	-	7	1610	c.1321C>T	c.(1321-1323)Cgc>Tgc	p.R441C	LGI3_uc010ltu.3_Missense_Mutation_p.R417C	NM_139278	NP_644807	Q8N145	LGI3_HUMAN	Homo sapiens leucine-rich repeat LGI family, member 3 (LGI3), mRNA.	441					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CCAATGTAGCGGCTGAGGCAC	0.657													A	22005999	G	A	22005999	3	1	201	1	0	0	0	0	1	0	0	0	8813	1116	39	1	329	1	LGI3	8	22005999	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		22005999	124358023	13	13876											
NRG1	3084	broad.mit.edu	37	chr8	32599524	32599524	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccacatttttgccctctAggtgccaacctggattcact	8	14	6	13	0	2	0	1	0	1	0	2	1	2	1	4	2	4	0	4	2	3	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:32599524A>G	uc003xiv.2	+	7	1150	c.633_splice	c.e7-2	p.K211_splice	NRG1_uc022ats.1_Intron|NRG1_uc003xip.3_Intron|NRG1_uc010lvn.3_Intron|NRG1_uc003xis.3_Intron|NRG1_uc011lbf.1_Intron|NRG1_uc010lvo.2_Intron|NRG1_uc003xiu.2_Intron|NRG1_uc003xiw.2_Intron|NRG1_uc003xit.2_Splice_Site_p.K211_splice|NRG1_uc010lvr.2_Intron|NRG1_uc010lvs.2_Intron|NRG1_uc010lvp.2_Intron|NRG1_uc010lvq.2_Intron|NRG1_uc003xix.3_Splice_Site_p.K101_splice|NRG1_uc003xiy.3_Intron|NRG1_uc011lbg.1_Splice_Site_p.K57_splice|NRG1_uc011lbh.1_Intron|NRG1_uc003xiz.1_Splice_Site|NRG1_uc003xja.2_Splice_Site_p.K14_splice	NM_013964	NP_039258	Q02297	NRG1_HUMAN	Homo sapiens neuregulin 1 (NRG1), transcript variant HRG-alpha, mRNA.	211	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		TTTGCCCTCTAGGTGCCAACC	0.378													G	32599524	A	G	32599524	5	3	201	1	0	0	0	0	0	0	1	0	10723	434	15	3	2127	3	NRG1	8	32599524	Splice_Site	SNP	A	TCGA-28-2499-01A-01D-1494-08	10593525	32599524	113764498	14	13877											
GML	2765	broad.mit.edu	37	chr8	143928002	143928002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaaagggacatgttacccGatgaagtaactgaggaggag	14	8	14	5	1	0	3	0	3	0	0	0	7	0	6	1	3	2	2	1	3	4	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr8:143928002G>A	uc003yxg.3	+	3	463	c.373G>A	c.(373-375)Gat>Aat	p.D125N		NM_002066	NP_002057	Q99445	GML_HUMAN	Homo sapiens glycosylphosphatidylinositol anchored molecule like protein (GML), mRNA.	125	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGTTACCCGATGAAGTAAC	0.418													A	143928002	G	A	143928002	3	1	201	1	0	0	0	0	1	0	0	0	6548	1058	37	1	383	1	GML	8	143928002	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	111328478	143928002	2436020	15	13878											
OR2K2	26248	broad.mit.edu	37	chr9	114090554	114090554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgggggttttaaggcGtgaatctaggatagtgatca	11	12	14	4	1	2	2	1	2	1	0	2	3	2	3	0	4	1	2	0	4	5	5	rs117283259	byFrequency	TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr9:114090554G>A	uc011lwp.2	-	0	160	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C		NM_205859	NP_995581	Q8NGT1	OR2K2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily K, member 2 (OR2K2), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GTTTTAAGGCGTGAATCTAGG	0.433													A	114090554	G	A	114090554	3	1	201	1	0	0	0	0	1	0	0	0	11081	1145	40	1	793	1	OR2K2	9	114090554	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		114090554	27122877	16	13879											
PHRF1	57661	broad.mit.edu	37	chr11	607393	607393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccccttgcctctgccgCgtctaagatctcaagcagag	7	10	9	15	2	3	2	1	0	3	2	4	2	3	2	4	0	4	1	4	0	2	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:607393C>T	uc001lqe.3	+	13	2068	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V	PHRF1_uc010qwc.2_Missense_Mutation_p.A645V|PHRF1_uc010qwd.2_Missense_Mutation_p.A644V|PHRF1_uc010qwe.2_Missense_Mutation_p.A642V|PHRF1_uc009ybz.1_Missense_Mutation_p.A436V|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	646							RNA polymerase binding|zinc ion binding	p.A651V(1)|p.A646V(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCTCTGCCGCGTCTAAGATC	0.587													T	607393	C	T	607393	3	4	201	1	0	0	0	0	1	0	0	0	11938	768	27	1	1984	1	PHRF1	11	607393	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		607393	134399123	17	13880											
FAT3	120114	broad.mit.edu	37	chr11	92531786	92531786	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagagagtcccgttgaagtCaacattgaggtgacagatgt	12	9	13	7	1	1	5	1	3	0	2	2	6	2	5	1	1	1	2	1	1	2	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:92531786C>T	uc001pdj.4	+	8	5624	c.5607C>T	c.(5605-5607)gtC>gtT	p.V1869V		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	1869	Cadherin 16.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCGTTGAAGTCAACATTGAGG	0.463										TCGA Ovarian(4;0.039)			T	92531786	C	T	92531786	2	4	201	1	0	0	0	0	0	0	0	1	5740	813	29	2		2	FAT3	11	92531786	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	91924393	92531786	42474730	18	13881											
TRPC6	7225	broad.mit.edu	37	chr11	101323804	101323804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagttcatagcggagaCttgagatgtcctgcttaatt	11	12	11	7	1	1	2	1	1	0	2	2	5	2	3	1	2	2	2	1	2	3	5			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr11:101323804C>A	uc001pgk.4	-	12	3103	c.2678G>T	c.(2677-2679)aGt>aTt	p.S893I	TRPC6_uc009ywy.3_Missense_Mutation_p.S777I	NM_004621	NP_004612	Q9Y210	TRPC6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 6 (TRPC6), mRNA.	893					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATAGCGGAGACTTGAGATGTC	0.388													A	101323804	C	A	101323804	3	1	201	1	0	0	0	0	1	0	0	0	16684	565	20	4	121	4	TRPC6	11	101323804	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	8792018	101323804	33682712	19	13882											
ANO2	57101	broad.mit.edu	37	chr12	5908717	5908717	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagaacactccatagcgCgcccattcttgatatagcag	12	11	7	11	2	1	2	0	1	1	1	2	2	2	2	2	0	3	1	2	0	6	7			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr12:5908717C>T	uc001qnm.2	-	9	1071	c.999G>A	c.(997-999)gcG>gcA	p.A333A		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	338						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CTCCATAGCGCGCCCATTCTT	0.418													T	5908717	C	T	5908717	2	4	201	1	0	0	0	0	0	0	0	1	697	755	27	1		1	ANO2	12	5908717	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08		5908717	127943178	20	13883											
LECT1	11061	broad.mit.edu	37	chr13	53307443	53307443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgtctatttccattgAcccatcttgtaatttcccat	8	15	4	14	1	2	1	0	1	2	0	4	1	4	1	4	0	1	1	4	0	2	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:53307443A>G	uc001vhf.2	-	2	376	c.265T>C	c.(265-267)Tca>Cca	p.S89P	LECT1_uc001vhg.2_Missense_Mutation_p.S89P|LECT1_uc001vhh.2_Missense_Mutation_p.S116P	NM_007015	NP_008946	O75829	LECT1_HUMAN	Homo sapiens leukocyte cell derived chemotaxin 1 (LECT1), transcript variant 1, mRNA.	89					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		ATTTCCATTGACCCATCTTGT	0.363													G	53307443	A	G	53307443	3	3	201	1	0	0	0	0	1	0	0	0	8771	275	10	3	759	3	LECT1	13	53307443	Missense_Mutation	SNP	A	TCGA-28-2499-01A-01D-1494-08		53307443	61862435	21	13884											
TFDP1	7027	broad.mit.edu	37	chr13	114286001	114286001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtaggaagcccacacaccCccagcactcactttgcctct	9	8	7	17	0	2	0	1	0	1	0	2	1	2	1	4	2	3	2	4	2	2	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr13:114286001C>A	uc001vtw.3	+	4	462	c.250C>A	c.(250-252)Ccc>Acc	p.P84T	TFDP1_uc010tkd.2_Intron|TFDP1_uc010tke.2_Intron|TFDP1_uc001vty.4_Missense_Mutation_p.P84T|TFDP1_uc010agx.3_Missense_Mutation_p.P84T	NM_007111	NP_009042	Q14186	TFDP1_HUMAN	Homo sapiens transcription factor Dp-1 (TFDP1), transcript variant 1, mRNA.	84					cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			CCCACACACCCCCAGCACTCA	0.557										TSP Lung(29;0.18)			A	114286001	C	A	114286001	3	1	201	1	0	0	0	0	1	0	0	0	15897	623	22	4	264	4	TFDP1	13	114286001	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08	60978558	114286001	883877	22	13885											
WDR72	256764	broad.mit.edu	37	chr15	53908374	53908374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagaatatgaaagccaaCgttactccattttgtcttca	14	13	6	8	1	2	3	1	1	1	2	3	3	3	3	2	0	3	1	2	0	7	6			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:53908374C>T	uc002acj.2	-	14	2071	c.2029G>A	c.(2029-2031)Gtt>Att	p.V677I	WDR72_uc010bfi.1_Missense_Mutation_p.V677I	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	677										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TGAAAGCCAACGTTACTCCAT	0.378													T	53908374	C	T	53908374	3	4	201	1	0	0	0	0	1	0	0	0	17424	536	19	1	1303	1	WDR72	15	53908374	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		53908374	48623018	23	13886											
TLN2	83660	broad.mit.edu	37	chr15	63063321	63063321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcagccaaagaaggtggCggaaaccccaaggtatggtc	13	6	13	9	1	0	1	0	0	0	1	1	2	0	2	3	5	3	2	3	5	6	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr15:63063321C>T	uc002alb.4	+	38	5355	c.5355C>T	c.(5353-5355)ggC>ggT	p.G1785G	TLN2_uc002alc.4_Silent_p.G178G|TLN2_uc002ald.3_Silent_p.G178G	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1785					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGAAGGTGGCGGAAACCCCA	0.507													T	63063321	C	T	63063321	2	4	201	1	0	0	0	0	0	0	0	1	16048	755	27	1		1	TLN2	15	63063321	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	9154947	63063321	39468071	24	13887											
AXIN1	8312	broad.mit.edu	37	chr16	339566	339566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacgatgctgtcacacGgctgggcactcccgccgccc	7	5	10	19	4	1	0	1	0	0	0	2	1	2	0	4	2	2	3	4	2	1	0			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:339566G>A	uc002cgp.2	-	9	2725	c.2336C>T	c.(2335-2337)cCg>cTg	p.P779L	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Missense_Mutation_p.P743L	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	779	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding	p.P779L(2)		biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				GCTGTCACACGGCTGGGCACT	0.637													A	339566	G	A	339566	3	1	201	1	0	0	0	0	1	0	0	0	1241	1116	39	1	260	1	AXIN1	16	339566	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08		339566	90015187	25	13888											
TEKT5	146279	broad.mit.edu	37	chr16	10788283	10788283	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcagctctgacttccagaAgccaatgtccgacagcctct	9	9	8	15	1	3	2	1	1	2	1	5	3	5	2	4	0	3	2	4	0	2	1			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:10788283A>G	uc002czz.1	-	0	520	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L		NM_144674	NP_653275	Q96M29	TEKT5_HUMAN	Homo sapiens tektin 5 (TEKT5), mRNA.	150					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GACTTCCAGAAGCCAATGTCC	0.597													G	10788283	A	G	10788283	3	3	201	1	0	0	0	0	1	0	0	0	15856	72	3	3	1037	3	TEKT5	16	10788283	Missense_Mutation	SNP	A	TCGA-28-2499-01A-01D-1494-08	10448717	10788283	79566470	26	13889											
PKD1L2	114780	broad.mit.edu	37	chr16	81219137	81219137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgcagacacgtagaGgcactgctctgccctgttct	7	8	12	14	2	2	2	0	0	2	2	2	2	2	2	2	2	2	5	2	2	1	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr16:81219137G>A	uc002fgh.1	-	10	1957	c.1957C>T	c.(1957-1959)Ctc>Ttc	p.L653F	PKD1L2_uc002fgj.3_Missense_Mutation_p.L653F	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	653	REJ.				neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACACGTAGAGGCACTGCTCT	0.622													A	81219137	G	A	81219137	3	1	201	1	0	0	0	0	1	0	0	0	12042	1000	35	2	5623	2	PKD1L2	16	81219137	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	70430854	81219137	9135616	27	13890											
SLC13A2	9058	broad.mit.edu	37	chr17	26822743	26822743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgccagctccagccattgCcatcatcctctccctcctgg	5	11	7	18	0	2	0	1	0	1	0	6	0	5	0	7	1	4	1	7	1	0	1			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:26822743C>T	uc010wan.2	+	9	1593	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	SLC13A2_uc010wam.2_Missense_Mutation_p.A416V|SLC13A2_uc002hbh.3_Missense_Mutation_p.A460V|SLC13A2_uc010wao.2_Missense_Mutation_p.A417V|SLC13A2_uc002hbi.3_Missense_Mutation_p.A389V	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	460						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCAGCCATTGCCATCATCCTC	0.607													T	26822743	C	T	26822743	3	4	201	1	0	0	0	0	1	0	0	0	14486	739	26	2	1564	2	SLC13A2	17	26822743	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		26822743	54372467	28	13891											
GPS1	2873	broad.mit.edu	37	chr17	80011213	80011213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcagaatgcacctgacGtcaactacgtggtggagaac	12	6	11	12	3	1	3	1	1	0	2	1	4	1	3	2	2	4	2	2	2	4	1	rs146475501		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr17:80011213G>A	uc002kdk.1	+	1	637	c.217G>A	c.(217-219)Gtc>Atc	p.V73I	RFNG_uc002kdh.3_5'Flank|RFNG_uc021ufl.1_5'Flank|RFNG_uc002kdj.3_5'Flank|GPS1_uc002kdl.1_Missense_Mutation_p.V33I|GPS1_uc010dij.1_Missense_Mutation_p.V73I|GPS1_uc002kdm.1_Missense_Mutation_p.V17I|GPS1_uc002kdn.1_Missense_Mutation_p.V33I|GPS1_uc010wvh.1_Missense_Mutation_p.V25I	NM_212492	NP_997657	Q13098	CSN1_HUMAN	Homo sapiens G protein pathway suppressor 1 (GPS1), transcript variant 1, mRNA.	33					cell cycle|cullin deneddylation|inactivation of MAPK activity|JNK cascade	cytoplasm|signalosome	GTPase inhibitor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGCACCTGACGTCAACTACGT	0.667													A	80011213	G	A	80011213	3	1	201	1	0	0	0	0	1	0	0	0	6787	1145	40	1	260	1	GPS1	17	80011213	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	53188470	80011213	1183997	29	13892											
TSPAN16	26526	broad.mit.edu	37	chr19	11408879	11408879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaggggcctctctgaCgaatgtcctcgggctgtcct	5	11	14	11	2	1	1	0	1	1	0	5	3	3	2	3	4	0	1	3	4	1	0	rs138340787		TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:11408879C>T	uc002mqv.1	+	1	281	c.131C>T	c.(130-132)aCg>aTg	p.T44M	TSPAN16_uc002mqu.1_Non-coding_Transcript	NM_012466	NP_036598	Q9UKR8	TSN16_HUMAN	Homo sapiens tetraspanin 16 (TSPAN16), mRNA.	44						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						GCCTCTCTGACGAATGTCCTC	0.532													T	11408879	C	T	11408879	3	4	201	1	0	0	0	0	1	0	0	0	16741	536	19	1	137	1	TSPAN16	19	11408879	Missense_Mutation	SNP	C	TCGA-28-2499-01A-01D-1494-08		11408879	47720104	30	13893											
CALR	811	broad.mit.edu	37	chr19	13050871	13050871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttcacacctaggtccCgacatctgtggccctggcac	6	10	9	16	1	3	0	1	0	2	0	4	1	4	0	3	3	1	2	3	3	1	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:13050871C>T	uc002mvu.2	+	3	482	c.402C>T	c.(400-402)ccC>ccT	p.P134P		NM_004343	NP_004334	P27797	CALR_HUMAN	Homo sapiens calreticulin (CALR), mRNA.	134	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTAGGTCCCGACATCTGTG	0.502													T	13050871	C	T	13050871	2	4	201	1	0	0	0	0	0	0	0	1	2618	639	23	1		1	CALR	19	13050871	Silent	SNP	C	TCGA-28-2499-01A-01D-1494-08	1641992	13050871	46078112	31	13894											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586693	15586693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttaacagagatgccttgGggtccaaaagcgtaaaggtc	12	9	13	7	1	0	1	0	0	0	1	2	2	1	1	2	4	3	2	2	4	5	3			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr19:15586693G>A	uc002nbg.3	-	1	921	c.788C>T	c.(787-789)cCc>cTc	p.P263L	PGLYRP2_uc002nbf.4_Missense_Mutation_p.P263L	NM_052890	NP_443122	Q96PD5	PGRP2_HUMAN	Homo sapiens peptidoglycan recognition protein 2 (PGLYRP2), mRNA.	263					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						AGATGCCTTGGGGTCCAAAAG	0.617													A	15586693	G	A	15586693	3	1	201	1	0	0	0	0	1	0	0	0	11871	1232	43	2	958	2	PGLYRP2	19	15586693	Missense_Mutation	SNP	G	TCGA-28-2499-01A-01D-1494-08	2535822	15586693	43542290	32	13895											
ZNF337	26152	broad.mit.edu	37	chr20	25655873	25655873	+	Frame_Shift_Del	DEL	G	G	-																															tacactcctggcaaacaaaaGgcttctcctttgagtgtatc																										TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:25655873delG	uc002wva.3	-	3	2573	c.2051delC	c.(2050-2052)cctfs	p.P684fs	ZNF337_uc002wuz.3_Non-coding_Transcript|ZNF337_uc010ztg.2_Frame_Shift_Del_p.P652fs|ZNF337_uc002wvc.3_Frame_Shift_Del_p.P684fs	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GCAAACAAAAGGCTTCTCCTT	0.502													-	25655873	G	-	25655873	7	5	201	1	0	1	0	1	0	0	0	0	17954	1000	35	0	208	0	ZNF337	20	25655873	Frame_Shift_Del	DEL	G	TCGA-28-2499-01A-01D-1494-08		25655873	37369647	33	13896											
PABPC1L	80336	broad.mit.edu	37	chr20	43559261	43559261	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcggaaggccatctTgaccaaccagtacatgcagc	13	5	12	11	1	1	2	0	1	1	1	1	4	1	4	3	3	5	2	3	3	3	2			TCGA-28-2499-01A-01D-1494-08	TCGA-28-2499-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28583f40-c3fc-4213-91c1-99d7d536551e	bfeda2fa-2ff8-40d0-9c7d-9edd34d95451	g.chr20:43559261T>A	uc010ggv.1	+	7	1215	c.1133T>A	c.(1132-1134)tTg>tAg	p.L378*	PABPC1L_uc010zwq.1_Non-coding_Transcript|PABPC1L_uc002xmv.2_Non-coding_Transcript|PABPC1L_uc002xmw.2_5'Flank|PABPC1L_uc002xmx.3_5'Flank	NM_001124756	NP_001118228	Q4VXU2	PAP1L_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 1-like (PABPC1L), mRNA.	378							nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						AAGGCCATCTTGACCAACCAG	0.627													A	43559261	T	A	43559261	4	1	201	1	0	0	0	0	0	1	0	0	11440	1821	63	5	1163	5	PABPC1L	20	43559261	Nonsense_Mutation	SNP	T	TCGA-28-2499-01A-01D-1494-08	17903388	43559261	19466259	34	13897											
SCNN1D	6339	broad.mit.edu	37	chr1	1222931	1222931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctacggcagctgctacAcggtcgatggcgtctggaca	8	7	12	14	4	1	0	0	0	1	0	2	2	1	1	2	4	4	3	2	4	2	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:1222931A>G	uc001adt.1	+	9	1580	c.1354A>G	c.(1354-1356)Acg>Gcg	p.T452A	SCNN1D_uc001adu.1_Missense_Mutation_p.T288A|SCNN1D_uc001adw.2_Missense_Mutation_p.T354A|SCNN1D_uc001adv.2_Missense_Mutation_p.T288A|SCNN1D_uc001adx.2_Silent_p.T51T	NM_001130413	NP_001123885			Homo sapiens sodium channel, nonvoltage-gated 1, delta (SCNN1D), transcript variant 1, mRNA.											lung(6)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.46e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CAGCTGCTACACGGTCGATGG	0.677													G	1222931	A	G	1222931	3	3	202	1	0	0	0	0	1	0	0	0	14022	159	6	3	1086	3	SCNN1D	1	1222931	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08		1222931	248027690	1	13898											
ACTL8	81569	broad.mit.edu	37	chr1	18152553	18152553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatgaacaagtgctacGtgccgcagaatctgggggag	11	7	14	9	2	2	3	1	1	1	2	2	4	2	4	1	2	4	2	1	2	4	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:18152553G>A	uc001bat.3	+	2	856	c.640G>A	c.(640-642)Gtg>Atg	p.V214M		NM_030812	NP_110439	Q9H568	ACTL8_HUMAN	Homo sapiens actin-like 8 (ACTL8), mRNA.	214						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CAAGTGCTACGTGCCGCAGAA	0.567											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18152553	G	A	18152553	3	1	202	1	0	0	0	0	1	0	0	0	202	1145	40	1	646	1	ACTL8	1	18152553	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	16929622	18152553	231098068	2	13899											
SCMH1	22955	broad.mit.edu	37	chr1	41514522	41514522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccttcttcttatctaaGtgggggcctgtgctgccatt	5	15	11	10	0	3	0	0	0	3	0	3	1	3	1	3	3	2	1	3	3	2	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:41514522G>A	uc001cgo.3	-	10	1485	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	SCMH1_uc010ojr.2_Silent_p.H214H|SCMH1_uc001cgp.3_Silent_p.H311H|SCMH1_uc001cgr.3_Silent_p.H311H|SCMH1_uc001cgq.3_Silent_p.H325H|SCMH1_uc001cgs.3_Silent_p.H382H|SCMH1_uc001cgt.3_Silent_p.H311H|SCMH1_uc010ojs.1_Non-coding_Transcript	NM_001031694	NP_001165692	Q96GD3	SCMH1_HUMAN	Homo sapiens sex comb on midleg homolog 1 (Drosophila) (SCMH1), transcript variant 1, mRNA.	372					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TCTTATCTAAGTGGGGGCCTG	0.493													A	41514522	G	A	41514522	2	1	202	1	0	0	0	0	0	0	0	1	14001	1020	36	2		2	SCMH1	1	41514522	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	23361969	41514522	207736099	3	13900											
CPT2	1376	broad.mit.edu	37	chr1	53666396	53666396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttctccccaggctgcCtattcccaaacttgaagaca	9	11	6	15	0	1	2	0	1	1	1	3	2	2	2	4	1	3	2	4	1	3	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:53666396C>T	uc001cvb.4	+	1	673	c.158C>T	c.(157-159)cCt>cTt	p.P53L		NM_000098	NP_000089	P23786	CPT2_HUMAN	Homo sapiens carnitine palmitoyltransferase 2 (CPT2), nuclear gene encoding mitochondrial protein, mRNA.	53					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	CCCAGGCTGCCTATTCCCAAA	0.433													T	53666396	C	T	53666396	3	4	202	1	0	0	0	0	1	0	0	0	3865	681	24	2	164	2	CPT2	1	53666396	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	12151874	53666396	195584225	4	13901											
PKLR	5313	broad.mit.edu	37	chr1	155264053	155264053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagacaacaggcttgccCgccaagttgcagcgcccaat	11	5	10	15	2	0	1	0	0	0	1	0	1	0	1	3	1	4	4	3	1	3	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:155264053C>T	uc001fkb.4	-	6	1128	c.1089G>A	c.(1087-1089)gcG>gcA	p.A363A	PKLR_uc001fka.4_Silent_p.A332A	NM_000298	NP_000289	P30613	KPYR_HUMAN	Homo sapiens pyruvate kinase, liver and RBC (PKLR), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	363					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CAGGCTTGCCCGCCAAGTTGC	0.577													T	155264053	C	T	155264053	2	4	202	1	0	0	0	0	0	0	0	1	12053	639	23	1		1	PKLR	1	155264053	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	101597657	155264053	93986568	5	13902											
MPZL1	9019	broad.mit.edu	37	chr1	167757139	167757139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagagtctgtggtgtatgCggatatccgaaagaattaag	12	11	13	5	2	2	2	1	0	1	2	3	4	3	3	1	2	1	1	1	2	5	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:167757139C>T	uc001geo.3	+	5	993	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MPZL1_uc001gep.3_3'UTR|MPZL1_uc001geq.3_Missense_Mutation_p.A114V|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	264					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					GTGGTGTATGCGGATATCCGA	0.448													T	167757139	C	T	167757139	3	4	202	1	0	0	0	0	1	0	0	0	9825	768	27	1	813	1	MPZL1	1	167757139	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	12493086	167757139	81493482	6	13903											
HMCN1	83872	broad.mit.edu	37	chr1	185956672	185956672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caaaccgtctgtcatctggtCcaaggtaaatgatacatcta	13	11	7	10	1	4	1	1	1	3	0	5	1	5	1	2	2	2	1	2	2	6	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:185956672C>G	uc001grq.1	+	19	3273	c.3044C>G	c.(3043-3045)tCc>tGc	p.S1015C	HMCN1_uc001grr.1_Missense_Mutation_p.S356C	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	1015	Ig-like C2-type 7.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GTCATCTGGTCCAAGGTAAAT	0.458													G	185956672	C	G	185956672	3	3	202	1	0	0	0	0	1	0	0	0	7275	855	30	4	3122	4	HMCN1	1	185956672	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	18199533	185956672	63293949	7	13904											
RBBP5	5929	broad.mit.edu	37	chr1	205065884	205065884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggctgggacccatctgctGaggactgcctcttcttctct	4	13	11	13	0	4	1	0	1	4	0	5	3	4	3	2	3	2	2	2	3	0	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:205065884G>A	uc010prd.2	-	10	1708	c.1427C>T	c.(1426-1428)tCa>tTa	p.S476L	RBBP5_uc010pre.2_Missense_Mutation_p.S314L|RBBP5_uc001hbu.2_Missense_Mutation_p.S441L|RBBP5_uc001hbv.2_Missense_Mutation_p.S441L	NM_005057	NP_005048	Q15291	RBBP5_HUMAN	Homo sapiens retinoblastoma binding protein 5 (RBBP5), transcript variant 1, mRNA.	441					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CCCATCTGCTGAGGACTGCCT	0.493													A	205065884	G	A	205065884	3	1	202	1	0	0	0	0	1	0	0	0	13190	1294	45	2	306	2	RBBP5	1	205065884	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	19109212	205065884	44184737	8	13905											
KCNK1	3775	broad.mit.edu	37	chr1	233802400	233802400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgcatcatctactccGtcattggcattcccttcacc	6	14	4	17	1	5	0	3	0	2	0	7	0	7	0	4	1	2	2	4	1	1	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:233802400G>A	uc010pxo.1	+	1	583	c.415G>A	c.(415-417)Gtc>Atc	p.V139I		NM_002245	NP_002236	O00180	KCNK1_HUMAN	Homo sapiens potassium channel, subfamily K, member 1 (KCNK1), mRNA.	139						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	CATCTACTCCGTCATTGGCAT	0.582													A	233802400	G	A	233802400	3	1	202	1	0	0	0	0	1	0	0	0	8116	1145	40	1	421	1	KCNK1	1	233802400	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	28736516	233802400	15448221	9	13906											
RYR2	6262	broad.mit.edu	37	chr1	237947838	237947838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtaaaaaagatgaccGtgaaggacatggtcacggcc	18	5	11	7	2	1	3	1	2	0	1	1	4	1	4	2	3	0	1	2	3	6	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:237947838G>A	uc001hyl.1	+	89	12946	c.12826G>A	c.(12826-12828)Gtg>Atg	p.V4276M	RYR2_uc010pya.2_Missense_Mutation_p.V691M	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	4276					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4274L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAGATGACCGTGAAGGACAT	0.468													A	237947838	G	A	237947838	3	1	202	1	0	0	0	0	1	0	0	0	13860	1145	40	1	13184	1	RYR2	1	237947838	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	4145438	237947838	11302783	10	13907											
NLRP3	114548	broad.mit.edu	37	chr1	247587842	247587842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacttgctggaccatcctcGgcatgtggagatcctgggtt	6	11	13	11	1	0	1	0	0	0	1	3	3	2	2	3	4	1	4	3	4	0	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr1:247587842G>A	uc001icr.3	+	4	1235	c.1097G>A	c.(1096-1098)cGg>cAg	p.R366Q	NLRP3_uc001ics.3_Missense_Mutation_p.R366Q|NLRP3_uc001icu.3_Missense_Mutation_p.R366Q|NLRP3_uc001icw.3_Missense_Mutation_p.R366Q|NLRP3_uc001icv.3_Missense_Mutation_p.R366Q|NLRP3_uc010pyw.2_Missense_Mutation_p.R364Q|NLRP3_uc001ict.1_Missense_Mutation_p.R364Q	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	366	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GACCATCCTCGGCATGTGGAG	0.547													A	247587842	G	A	247587842	3	1	202	1	0	0	0	0	1	0	0	0	10554	1116	39	1	1107	1	NLRP3	1	247587842	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	9640004	247587842	1662779	11	13908											
SLC5A7	60482	broad.mit.edu	37	chr2	108604723	108604723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtggcagcgcagaagagCgcagcgaagccatcatagtt	13	5	13	10	3	1	2	1	0	0	2	1	3	1	2	1	1	4	4	1	1	3	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:108604723C>T	uc002tdv.3	+	1	388	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.R38C|SLC5A7_uc010ywn.2_Intron	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	38					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.R38G(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CGCAGAAGAGCGCAGCGAAGC	0.502													T	108604723	C	T	108604723	3	4	202	1	0	0	0	0	1	0	0	0	14764	768	27	1	114	1	SLC5A7	2	108604723	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		108604723	134594650	12	13909											
MYO7B	4648	broad.mit.edu	37	chr2	128366343	128366343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctctccctgccaagaagCgcagatccatctacgacacc	10	6	8	17	3	2	2	0	0	2	2	4	3	3	2	4	0	3	2	4	0	3	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:128366343C>T	uc002top.3	+	21	2757	c.2704C>T	c.(2704-2706)Cgc>Tgc	p.R902C		NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	902						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TGCCAAGAAGCGCAGATCCAT	0.652													T	128366343	C	T	128366343	3	4	202	1	0	0	0	0	1	0	0	0	10159	768	27	1	2786	1	MYO7B	2	128366343	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	19761620	128366343	114833030	13	13910											
POTEE	445582	broad.mit.edu	37	chr2	131976471	131976471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctcagggacactgacGtgaacaagaaggacaagcaa	16	5	11	9	1	2	3	2	2	0	1	2	5	2	5	0	2	3	2	0	2	5	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:131976471G>A	uc002tsn.2	+	0	548	c.496G>A	c.(496-498)Gtg>Atg	p.V166M	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	166							ATP binding										GGACACTGACGTGAACAAGAA	0.592													A	131976471	G	A	131976471	3	1	202	1	0	0	0	0	1	0	0	0	12341	1145	40	1	498	1	POTEE	2	131976471	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	3610128	131976471	111222902	14	13911											
TTN	7273	broad.mit.edu	37	chr2	179542438	179542438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaggtacatattcttcttCgggaggaacttcctcttcct	7	15	7	12	1	4	0	1	0	3	0	7	2	6	2	2	3	2	1	2	3	3	7			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179542438C>T	uc021vsy.1	-	142	30694	c.30469G>A	c.(30469-30471)Gaa>Aaa	p.E10157K	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.E6818K|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11084	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCTTCTTCGGGAGGAACT	0.453													T	179542438	C	T	179542438	3	4	202	1	0	0	0	0	1	0	0	0	16837	893	31	1	70196	1	TTN	2	179542438	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	47565967	179542438	63656935	15	13912											
TTN	7273	broad.mit.edu	37	chr2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggttctgacgtccaCgacgagatgtaattgtatat	10	12	11	8	4	1	3	0	2	1	1	2	5	2	3	2	1	0	3	2	1	3	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:179639038C>T	uc021vsy.1	-	29	7178	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN_uc021vsz.1_Missense_Mutation_p.R2272H|TTN_uc021vta.1_Missense_Mutation_p.R2272H|TTN_uc021vtb.1_Missense_Mutation_p.R2272H|TTN_uc002unb.2_Missense_Mutation_p.R2318H|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2318	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACGTCCACGACGAGATGT	0.403													T	179639038	C	T	179639038	3	4	202	1	0	0	0	0	1	0	0	0	16837	536	19	1	104367	1	TTN	2	179639038	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	96600	179639038	63560335	16	13913											
DOCK10	55619	broad.mit.edu	37	chr2	225670162	225670162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctcactgctcttctcaTtggtacttggattggagtca	6	17	8	10	0	5	0	3	0	4	0	7	2	5	2	0	3	2	2	0	3	1	6			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr2:225670162T>C	uc010fwz.1	-	34	4138	c.3899A>G	c.(3898-3900)aAt>aGt	p.N1300S	DOCK10_uc002vob.2_Missense_Mutation_p.N1294S|DOCK10_uc002voa.2_5'UTR|DOCK10_uc002voc.2_Missense_Mutation_p.N154S	NM_014689	NP_055504	Q96BY6	DOC10_HUMAN	Homo sapiens dedicator of cytokinesis 10 (DOCK10), mRNA.	1300							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		GCTCTTCTCATTGGTACTTGG	0.423													C	225670162	T	C	225670162	3	2	202	1	0	0	0	0	1	0	0	0	4724	1493	52	3	2749	3	DOCK10	2	225670162	Missense_Mutation	SNP	T	TCGA-28-2501-01A-01D-1696-08	46031124	225670162	17529211	17	13914											
UBA7	7318	broad.mit.edu	37	chr3	49849871	49849871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatagaccggggatcacagtCgttgagctcaaccattccct	10	9	10	12	2	2	2	2	1	0	1	4	4	3	3	3	2	2	2	3	2	2	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:49849871C>T	uc003cxr.3	-	5	835	c.664G>A	c.(664-666)Gac>Aac	p.D222N		NM_003335	NP_003326	P41226	UBA7_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 7 (UBA7), mRNA.	222	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GGATCACAGTCGTTGAGCTCA	0.567													T	49849871	C	T	49849871	3	4	202	1	0	0	0	0	1	0	0	0	16935	884	31	1	2450	1	UBA7	3	49849871	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		49849871	148172559	18	13915											
EPHB1	2047	broad.mit.edu	37	chr3	134851749	134851749	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtgcccaggcagctgggCctgacggagtgccgcgtctc	4	9	15	13	3	1	1	0	1	1	0	2	2	1	2	3	3	3	2	3	3	0	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:134851749C>A	uc003eqt.3	+	4	1530	c.1155C>A	c.(1153-1155)ggC>ggA	p.G385G	EPHB1_uc010htz.2_Non-coding_Transcript|EPHB1_uc011bly.2_3'UTR|EPHB1_uc003equ.3_5'UTR	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	385	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding	p.G385V(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						GGCAGCTGGGCCTGACGGAGT	0.597													A	134851749	C	A	134851749	2	1	202	1	0	0	0	0	0	0	0	1	5215	726	26	4		4	EPHB1	3	134851749	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	85001878	134851749	63170681	19	13916											
HTR3E	285242	broad.mit.edu	37	chr3	183824082	183824082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagatgctgtcccactgcGccccagaaggaaaataaggg	12	5	14	10	1	0	2	0	0	0	2	1	4	1	3	3	3	2	1	3	3	4	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:183824082G>A	uc010hxr.3	+	5	1364	c.1170G>A	c.(1168-1170)gcG>gcA	p.A390A	HTR3E_uc010hxq.3_Silent_p.A364A|HTR3E_uc003fml.4_Silent_p.A349A|HTR3E_uc003fmm.3_Silent_p.A379A|HTR3E_uc003fmn.3_Silent_p.A364A	NM_182589	NP_872395	A5X5Y0	5HT3E_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3, family member E (HTR3E), mRNA.	364						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.A379A(1)|p.T390N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	40	all_cancers(143;1.46e-10)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTCCCACTGCGCCCCAGAAGG	0.667													A	183824082	G	A	183824082	2	1	202	1	0	0	0	0	0	0	0	1	7506	1074	38	1		1	HTR3E	3	183824082	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	48972333	183824082	14198348	20	13917											
DGKG	1608	broad.mit.edu	37	chr3	185975697	185975697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacaggccaaaacacGgaagtctggagtatcacgga	14	5	10	12	2	2	0	1	0	1	0	3	3	3	3	3	4	1	1	3	4	4	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:185975697G>A	uc003fqa.3	-	16	1993	c.1456C>T	c.(1456-1458)Cgt>Tgt	p.R486C	DGKG_uc003fqb.3_Missense_Mutation_p.R447C|DGKG_uc003fqc.3_Missense_Mutation_p.R461C|DGKG_uc011brx.2_Missense_Mutation_p.R427C	NM_001346	NP_001337	P49619	DGKG_HUMAN	Homo sapiens diacylglycerol kinase, gamma 90kDa (DGKG), transcript variant 1, mRNA.	486	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	GCCAAAACACGGAAGTCTGGA	0.463													A	185975697	G	A	185975697	3	1	202	1	0	0	0	0	1	0	0	0	4508	1116	39	1	955	1	DGKG	3	185975697	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	2151615	185975697	12046733	21	13918											
BDH1	622	broad.mit.edu	37	chr3	197238913	197238913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatcgatgacaggggaCgtgtctgtggagccactgct	9	8	14	10	2	1	1	0	1	1	0	2	4	1	3	1	3	3	2	1	3	0	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr3:197238913C>T	uc003fxr.3	-	7	1287	c.885G>A	c.(883-885)acG>acA	p.T295T	BDH1_uc003fxs.3_Silent_p.T295T|BDH1_uc003fxu.3_Silent_p.T295T	NM_203314	NP_976060	Q02338	BDH_HUMAN	Homo sapiens 3-hydroxybutyrate dehydrogenase, type 1 (BDH1), nuclear gene encoding mitochondrial protein, transcript variant 3, mRNA.	295					cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	TGACAGGGGACGTGTCTGTGG	0.577													T	197238913	C	T	197238913	2	4	202	1	0	0	0	0	0	0	0	1	1395	523	19	1		1	BDH1	3	197238913	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	11263216	197238913	783517	22	13919											
AMBN	258	broad.mit.edu	37	chr4	71472354	71472354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcaaccatggataccacGatggccccaaactctctgca	13	6	8	14	1	1	0	0	0	1	0	2	3	1	1	4	2	5	2	4	2	4	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr4:71472354G>A	uc003hfl.3	+	12	1352	c.1251G>A	c.(1249-1251)acG>acA	p.T417T		NM_016519	NP_057603	Q9NP70	AMBN_HUMAN	Homo sapiens ameloblastin (enamel matrix protein) (AMBN), mRNA.	417					bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			TGGATACCACGATGGCCCCAA	0.512													A	71472354	G	A	71472354	2	1	202	1	0	0	0	0	0	0	0	1	563	1045	37	1		1	AMBN	4	71472354	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08		71472354	119681922	23	13920											
IRX1	79192	broad.mit.edu	37	chr5	3600344	3600344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcactcaatggagacaagGcctcggtccgcagcagcccc	9	4	13	15	2	1	1	1	0	0	1	3	2	2	1	4	4	2	3	4	4	2	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:3600344G>A	uc003jde.3	+	1	1334	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_024337	NP_077313	P78414	IRX1_HUMAN	Homo sapiens iroquois homeobox 1 (IRX1), mRNA.	428						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TGGAGACAAGGCCTCGGTCCG	0.697													A	3600344	G	A	3600344	3	1	202	1	0	0	0	0	1	0	0	0	7901	1203	42	2	1288	2	IRX1	5	3600344	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		3600344	177314916	24	13921											
CMYA5	202333	broad.mit.edu	37	chr5	79026546	79026546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacatctgagagctctcTctcaccatccacaactgaga	11	9	5	16	0	3	2	1	2	3	2	6	4	4	2	3	0	3	1	3	0	2	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:79026546T>C	uc003kgc.3	+	1	2030	c.1958T>C	c.(1957-1959)cTc>cCc	p.L653P		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	653						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		GAGAGCTCTCTCTCACCATCC	0.458													C	79026546	T	C	79026546	3	2	202	1	0	0	0	0	1	0	0	0	3621	1551	54	3	1964	3	CMYA5	5	79026546	Missense_Mutation	SNP	T	TCGA-28-2501-01A-01D-1696-08	75426202	79026546	101888714	25	13922											
ABLIM3	22885	broad.mit.edu	37	chr5	148617052	148617052	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaattacaaagacctggcGgctctccccaaggttaagtc	11	10	8	12	1	1	1	0	0	1	1	3	1	1	1	3	3	1	2	3	3	5	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:148617052G>T	uc003lpy.2	+	10	1181	c.930G>T	c.(928-930)gcG>gcT	p.A310A	ABLIM3_uc003lpz.1_Silent_p.A310A|ABLIM3_uc003lqa.1_Intron|ABLIM3_uc003lqb.3_Intron|ABLIM3_uc003lqc.1_Silent_p.A310A|ABLIM3_uc003lqd.1_Intron|ABLIM3_uc003lqe.1_Intron|ABLIM3_uc003lqf.3_Intron	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	310					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGACCTGGCGGCTCTCCCCA	0.468													T	148617052	G	T	148617052	2	4	202	1	0	0	0	0	0	0	0	1	96	1103	39	4		4	ABLIM3	5	148617052	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	69590506	148617052	32298208	26	13923											
SLIT3	6586	broad.mit.edu	37	chr5	168620553	168620553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttattcttgttcaggcGcctaaagaggaaagagaatg	13	10	11	7	1	2	2	1	0	1	2	2	4	2	3	1	2	1	2	1	2	5	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr5:168620553G>A	uc010jjg.3	-	4	762	c.342_splice	c.e4-1	p.L114_splice	SLIT3_uc003mab.3_Splice_Site_p.L114_splice|SLIT3_uc010jji.2_Splice_Site_p.L114_splice	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	114					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding	p.R115C(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTGTTCAGGCGCCTAAAGAGG	0.438													A	168620553	G	A	168620553	3	1	202	1	0	0	0	0	1	0	0	0	14835	1101	38	1	4360	1	SLIT3	5	168620553	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	20003501	168620553	12294707	27	13924											
MDC1	9656	broad.mit.edu	37	chr6	30682871	30682871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccgccctactggctccaCgttacacctcaaggattcac	9	9	7	16	2	2	0	2	0	0	0	3	1	3	1	4	2	3	2	4	2	4	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30682871C>T	uc003nrg.4	-	1	522	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	MDC1_uc003nrf.4_5'Flank|MDC1_uc011dmp.1_5'UTR|MDC1_uc003nrh.1_5'UTR|MDC1_uc003nri.2_Missense_Mutation_p.V28M	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	28	Interaction with CHEK2.|Interaction with the MRN complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTGGCTCCACGTTACACCTC	0.458								Other conserved DNA damage response genes					T	30682871	C	T	30682871	3	4	202	1	0	0	0	0	1	0	0	0	9478	536	19	1	6243	1	MDC1	6	30682871	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		30682871	140432196	28	13925											
IER3	8870	broad.mit.edu	37	chr6	30711832	30711832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggtgggcgccagggatgCggcgttaggggcgtcctctg	4	7	21	9	4	1	0	0	0	1	0	2	1	2	1	2	7	1	1	2	7	1	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr6:30711832C>T	uc003nrn.3	-	1	384	c.352G>A	c.(352-354)Gca>Aca	p.A118T	FLOT1_uc003nrm.3_5'Flank|FLOT1_uc011dmr.2_5'Flank	NM_003897	NP_003888	P46695	IEX1_HUMAN	Homo sapiens immediate early response 3 (IER3), mRNA.	118					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						GCCAGGGATGCGGCGTTAGGG	0.627													T	30711832	C	T	30711832	3	4	202	1	0	0	0	0	1	0	0	0	7564	768	27	1	122	1	IER3	6	30711832	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	28961	30711832	140403235	29	13926											
BBS9	27241	broad.mit.edu	37	chr7	33397475	33397475	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttattttaggcattccgCgagttatccaatgtaaattt	10	18	6	7	2	0	0	0	0	0	0	2	1	2	0	2	1	0	3	2	1	6	8			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:33397475C>T	uc003tdn.1	+	15	2074	c.1561C>T	c.(1561-1563)Cga>Tga	p.R521*	BBS9_uc003tdo.1_Nonsense_Mutation_p.R486*|BBS9_uc003tdp.1_Nonsense_Mutation_p.R516*|BBS9_uc003tdq.1_Nonsense_Mutation_p.R481*|BBS9_uc010kwn.1_Non-coding_Transcript|BBS9_uc003tdr.1_Nonsense_Mutation_p.R45*|BBS9_uc003tds.1_5'UTR|BBS9_uc011kao.1_Nonsense_Mutation_p.R399*	NM_198428	NP_940820	Q3SYG4	PTHB1_HUMAN	Homo sapiens Bardet-Biedl syndrome 9 (BBS9), transcript variant 2, mRNA.	521			R -> Q (in dbSNP:rs34218557).		fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding	p.R521Q(1)	BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			AGGCATTCCGCGAGTTATCCA	0.323									Bardet-Biedl syndrome				T	33397475	C	T	33397475	4	4	202	1	0	0	0	0	0	1	0	0	1347	760	27	1	1619	1	BBS9	7	33397475	Nonsense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		33397475	125741188	30	13927											
PCLO	27445	broad.mit.edu	37	chr7	82584801	82584801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattactaggtggtgtctttGgcctttcccttcttctctga	4	18	9	10	0	3	1	0	1	3	0	5	2	4	1	2	3	1	0	2	3	2	6			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:82584801G>A	uc003uhx.2	-	4	5757	c.5468C>T	c.(5467-5469)cCa>cTa	p.P1823L	PCLO_uc003uhv.2_Missense_Mutation_p.P1823L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1754					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R1822M(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTGTCTTTGGCCTTTCCCT	0.423													A	82584801	G	A	82584801	3	1	202	1	0	0	0	0	1	0	0	0	11659	1348	47	2	10061	2	PCLO	7	82584801	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	49187326	82584801	76553862	31	13928											
DMTF1	9988	broad.mit.edu	37	chr7	86815172	86815172	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacttgatgtagctgatgaAaatgacattaactgggatct	14	12	10	5	0	1	4	0	4	1	0	1	6	1	5	0	1	3	2	0	1	5	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:86815172A>G	uc003uih.3	+	11	1403	c.1077A>G	c.(1075-1077)gaA>gaG	p.E359E	DMTF1_uc003uii.3_Silent_p.E93E|DMTF1_uc003uij.3_Silent_p.E93E|DMTF1_uc011khb.2_Silent_p.E271E|DMTF1_uc003uik.3_Non-coding_Transcript|DMTF1_uc003uil.3_Silent_p.E359E|DMTF1_uc003uin.3_Silent_p.E93E	NM_001142327	NP_001135798	Q9Y222	DMTF1_HUMAN	Homo sapiens cyclin D binding myb-like transcription factor 1 (DMTF1), transcript variant 2, mRNA.	359	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Myb-like 2.|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					TAGCTGATGAAAATGACATTA	0.398													G	86815172	A	G	86815172	2	3	202	1	0	0	0	0	0	0	0	1	4631	11	1	3		3	DMTF1	7	86815172	Silent	SNP	A	TCGA-28-2501-01A-01D-1696-08	4230371	86815172	72323491	32	13929											
CNTNAP2	26047	broad.mit.edu	37	chr7	146997320	146997320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccatcgatggagatgaagCatcagcagttcgaactaata	15	8	9	9	2	1	2	1	1	0	1	3	5	1	2	1	1	3	3	1	1	4	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr7:146997320C>T	uc003weu.2	+	8	1952	c.1436C>T	c.(1435-1437)gCa>gTa	p.A479V	MIR548I4_uc022aoo.1_Intron	NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	479	Laminin G-like 2.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GGAGATGAAGCATCAGCAGTT	0.428										HNSCC(39;0.1)			T	146997320	C	T	146997320	3	4	202	1	0	0	0	0	1	0	0	0	3678	710	25	2	1470	2	CNTNAP2	7	146997320	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	60182148	146997320	12141343	33	13930											
DOCK8	81704	broad.mit.edu	37	chr9	404947	404947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctcagtaaccttccaacGctcatttccatgaggctaga	12	10	7	12	1	2	2	2	1	0	1	4	2	4	2	3	1	3	4	3	1	4	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:404947G>A	uc003zgf.2	+	26	3376	c.3264G>A	c.(3262-3264)acG>acA	p.T1088T	DOCK8_uc022bcu.1_Silent_p.T1020T|DOCK8_uc010mgv.3_Silent_p.T988T|DOCK8_uc010mgu.3_Silent_p.T390T|DOCK8_uc010mgw.2_Silent_p.T390T|DOCK8_uc003zgk.2_Silent_p.T546T	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1088					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACCTTCCAACGCTCATTTCCA	0.418													A	404947	G	A	404947	2	1	202	1	0	0	0	0	0	0	0	1	4732	1074	38	1		1	DOCK8	9	404947	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08		404947	140808484	34	13931											
ANKS6	203286	broad.mit.edu	37	chr9	101533299	101533299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggctgggcttctggggagGcttggaaatttaacaggcct	8	10	16	7	0	1	0	0	0	1	0	1	3	1	2	1	7	1	3	1	7	2	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:101533299G>A	uc004ayu.3	-	9	1872	c.1851C>T	c.(1849-1851)agC>agT	p.S617S	ANKS6_uc004ayv.2_Silent_p.S79S|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Silent_p.S316S	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	617	Ser-rich.							p.P616S(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TTCTGGGGAGGCTTGGAAATT	0.582													A	101533299	G	A	101533299	2	1	202	1	0	0	0	0	0	0	0	1	692	1194	42	2		2	ANKS6	9	101533299	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	101128352	101533299	39680132	35	13932											
BRD3	8019	broad.mit.edu	37	chr9	136918434	136918434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggtagaagggccaggCgaactggtgtttccagagcg	8	7	18	8	2	0	2	0	0	0	2	1	3	1	2	2	5	2	3	2	5	3	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr9:136918434C>T	uc004cew.3	-	1	354	c.166G>A	c.(166-168)Gcc>Acc	p.A56T	BRD3_uc004cex.2_Missense_Mutation_p.A56T	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	56	Bromo 1.					nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGGGCCAGGCGAACTGGTGT	0.617			T	C15orf55	lethal midline carcinoma of young people								T	136918434	C	T	136918434	3	4	202	1	0	0	0	0	1	0	0	0	1512	768	27	1	2058	1	BRD3	9	136918434	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	35385135	136918434	4294997	36	13933											
MYO3A	53904	broad.mit.edu	37	chr10	26465747	26465747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accataagccaattaatagaCgagtttcttctcagcagtgc	13	11	7	10	1	2	1	1	0	2	1	3	2	2	1	2	0	3	2	2	0	4	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr10:26465747C>T	uc001isn.2	+	30	4771	c.4411C>T	c.(4411-4413)Cga>Tga	p.R1471*	MYO3A_uc009xkp.1_Intron|MYO3A_uc009xkq.1_Intron	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	1471					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AATTAATAGACGAGTTTCTTC	0.378													T	26465747	C	T	26465747	4	4	202	1	0	0	0	0	0	1	0	0	10152	528	19	1	4525	1	MYO3A	10	26465747	Nonsense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		26465747	109069000	37	13934											
OR5D16	390144	broad.mit.edu	37	chr11	55606359	55606359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagtgtggtagggaaTcttgggatgatagtgatcat	9	13	15	4	0	3	2	2	2	1	0	3	4	3	4	0	4	0	2	0	4	3	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:55606359T>C	uc010rio.2	+	0	132	c.132T>C	c.(130-132)aaT>aaC	p.N44N		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGGTAGGGAATCTTGGGATGA	0.438													C	55606359	T	C	55606359	2	2	202	1	0	0	0	0	0	0	0	1	11232	1432	50	3		3	OR5D16	11	55606359	Silent	SNP	T	TCGA-28-2501-01A-01D-1696-08		55606359	79400157	38	13935											
OR5AR1	219493	broad.mit.edu	37	chr11	56431688	56431688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccaatatcatcaatcAtttcttctgcgaaatcccac	11	14	4	12	1	5	0	3	0	2	0	7	1	7	0	2	1	1	1	2	1	4	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:56431688A>G	uc010rjm.2	+	0	527	c.527A>G	c.(526-528)cAt>cGt	p.H176R	OR8U8_uc001nit.2_Intron	NM_001004730	NP_001004730	Q8NGP9	O5AR1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AR, member 1 (OR5AR1), mRNA.	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(12)|prostate(1)|skin(3)|stomach(1)	26						ATCATCAATCATTTCTTCTGC	0.488													G	56431688	A	G	56431688	3	3	202	1	0	0	0	0	1	0	0	0	11221	217	8	3	529	3	OR5AR1	11	56431688	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08	825329	56431688	78574828	39	13936											
LRRC32	2615	broad.mit.edu	37	chr11	76372493	76372493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggtctcagtgtctggCgggagcaccgaggggacctg	7	7	17	10	2	3	0	2	0	2	0	4	3	3	2	2	5	1	1	2	5	1	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr11:76372493C>T	uc001oxq.4	-	2	387	c.144G>A	c.(142-144)ccG>ccA	p.P48P	LRRC32_uc001oxr.4_Silent_p.P48P|LRRC32_uc010rsf.2_Silent_p.P48P	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	48						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CAGTGTCTGGCGGGAGCACCG	0.622													T	76372493	C	T	76372493	2	4	202	1	0	0	0	0	0	0	0	1	9057	755	27	1		1	LRRC32	11	76372493	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	19940805	76372493	58634023	40	13937											
PTPRR	5801	broad.mit.edu	37	chr12	71078010	71078010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatcatggggccctgcGtggcaatgaaggctttctcc	6	12	13	10	1	2	2	1	2	1	0	3	2	2	2	2	4	1	3	2	4	2	2	rs150540173		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr12:71078010G>A	uc001swi.2	-	9	1808	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M	PTPRR_uc001swh.2_Missense_Mutation_p.T220M|PTPRR_uc009zrs.3_Missense_Mutation_p.T259M|PTPRR_uc010stq.2_Missense_Mutation_p.T353M|PTPRR_uc010str.1_Missense_Mutation_p.T314M	NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	465	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGGCCCTGCGTGGCAATGAA	0.433													A	71078010	G	A	71078010	3	1	202	1	0	0	0	0	1	0	0	0	12898	1145	40	1	599	1	PTPRR	12	71078010	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		71078010	62773885	41	13938											
CHD8	57680	broad.mit.edu	37	chr14	21897194	21897194	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcctggtcccattatctGagcctgctgtacagaggaca	8	12	10	11	0	1	2	0	1	1	1	3	3	3	3	3	2	3	2	3	2	2	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr14:21897194G>A	uc001war.2	-	1	1209	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	CHD8_uc001was.2_Nonsense_Mutation_p.Q103*	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	382	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CCCATTATCTGAGCCTGCTGT	0.517													A	21897194	G	A	21897194	4	1	202	1	0	0	0	0	0	1	0	0	3361	1299	45	2	6745	2	CHD8	14	21897194	Nonsense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		21897194	85452346	42	13939											
EPB42	2038	broad.mit.edu	37	chr15	43499515	43499515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactccagtgtcccatcCtcacagcacttccagaccac	10	8	5	18	0	2	1	2	0	0	1	6	1	6	1	5	0	2	1	5	0	1	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:43499515C>T	uc001zrb.4	-	8	1590	c.1290G>A	c.(1288-1290)gaG>gaA	p.E430E	EPB42_uc001zqz.4_Silent_p.E67E|EPB42_uc001zra.4_Silent_p.E400E|EPB42_uc010udm.2_Silent_p.E322E	NM_000119	NP_000110	P16452	EPB42_HUMAN	Homo sapiens erythrocyte membrane protein band 4.2 (EPB42), transcript variant 1, mRNA.	400					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GTGTCCCATCCTCACAGCACT	0.552													T	43499515	C	T	43499515	2	4	202	1	0	0	0	0	0	0	0	1	5199	680	24	2		2	EPB42	15	43499515	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08		43499515	59031877	43	13940											
CILP	8483	broad.mit.edu	37	chr15	65489544	65489544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctgccctgggggatgAccttcaccagggtgcggtcc	5	7	16	13	1	1	1	1	1	0	0	2	2	2	2	4	5	3	2	4	5	0	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr15:65489544A>G	uc002aon.2	-	8	3261	c.3080T>C	c.(3079-3081)gTc>gCc	p.V1027A		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	1027					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CTGGGGGATGACCTTCACCAG	0.592													G	65489544	A	G	65489544	3	3	202	1	0	0	0	0	1	0	0	0	3459	275	10	3	478	3	CILP	15	65489544	Missense_Mutation	SNP	A	TCGA-28-2501-01A-01D-1696-08	21990029	65489544	37041848	44	13941											
DNAH2	146754	broad.mit.edu	37	chr17	7643079	7643079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcagtatcacttcgcccGctgggaagatggcaagcagg	9	8	13	11	2	2	1	2	0	0	1	3	2	2	2	1	3	1	4	1	3	3	2	rs145686578		TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:7643079G>A	uc002giu.1	+	7	1213	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	DNAH2_uc002git.3_Missense_Mutation_p.R482H|DNAH2_uc010vuk.2_Missense_Mutation_p.R400H	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	400	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R400H(2)|p.A399V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CACTTCGCCCGCTGGGAAGAT	0.483													A	7643079	G	A	7643079	3	1	202	1	0	0	0	0	1	0	0	0	4641	1087	38	1	1229	1	DNAH2	17	7643079	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		7643079	73552131	45	13942											
DNAH9	1770	broad.mit.edu	37	chr17	11650946	11650946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcgctggtaccggcaagtCacaggtgctgaggtccttgc	6	9	15	11	2	1	1	1	1	0	0	2	1	2	1	2	5	3	4	2	5	2	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:11650946C>T	uc002gne.3	+	31	6541	c.6473C>T	c.(6472-6474)tCa>tTa	p.S2158L	DNAH9_uc010coo.3_Missense_Mutation_p.S1452L	NM_001372	NP_001363	Q9NYC9	DYH9_HUMAN	Homo sapiens dynein, axonemal, heavy chain 9 (DNAH9), transcript variant 2, mRNA.	2158	AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACCGGCAAGTCACAGGTGCTG	0.562													T	11650946	C	T	11650946	3	4	202	1	0	0	0	0	1	0	0	0	4647	838	29	2	6599	2	DNAH9	17	11650946	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	4007867	11650946	69544264	46	13943											
ITGB3	3690	broad.mit.edu	37	chr17	45376748	45376748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actactgcaactgtaccacgCgtactgacacctgcatgtcc	10	9	7	15	2	0	1	0	1	0	0	1	1	1	1	3	0	6	4	3	0	4	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:45376748C>T	uc002ilj.3	+	10	1785	c.1765C>T	c.(1765-1767)Cgt>Tgt	p.R589C	ITGB3_uc010wkr.1_Non-coding_Transcript	NM_000212	NP_000203	P05106	ITB3_HUMAN	Homo sapiens integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) (ITGB3), mRNA.	589	Cysteine-rich tandem repeats.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CTGTACCACGCGTACTGACAC	0.607													T	45376748	C	T	45376748	3	4	202	1	0	0	0	0	1	0	0	0	7953	768	27	1	1807	1	ITGB3	17	45376748	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	33725802	45376748	35818462	47	13944											
SPAG9	9043	broad.mit.edu	37	chr17	49062314	49062314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagattgcaagggtgcCgtcagccagggctactaaca	12	7	13	9	1	1	2	1	1	0	1	1	2	1	2	2	2	5	2	2	2	4	3			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:49062314C>T	uc002itc.3	-	23	3267	c.3058G>A	c.(3058-3060)Ggc>Agc	p.G1020S	SPAG9_uc002itd.3_Missense_Mutation_p.G1010S|SPAG9_uc002itb.3_Missense_Mutation_p.G1006S|SPAG9_uc002ita.3_Missense_Mutation_p.G863S	NM_001130528	NP_001124000	O60271	JIP4_HUMAN	Homo sapiens sperm associated antigen 9 (SPAG9), transcript variant 1, mRNA.	1020					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			GCAAGGGTGCCGTCAGCCAGG	0.458													T	49062314	C	T	49062314	3	4	202	1	0	0	0	0	1	0	0	0	15081	652	23	1	935	1	SPAG9	17	49062314	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	3685566	49062314	32132896	48	13945											
CD300LB	124599	broad.mit.edu	37	chr17	72521999	72521999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatggtcacagtgaaCgtgcggtctttctgattgtc	6	13	10	12	2	3	2	1	2	2	0	5	2	4	2	2	2	2	0	2	2	1	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:72521999C>T	uc002jkx.2	-	1	382	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_uc010wqz.1_Silent_p.T123T	NM_174892	NP_777552	A8K4G0	CLM7_HUMAN	Homo sapiens CD300 molecule-like family member b (CD300LB), mRNA.	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517													T	72521999	C	T	72521999	2	4	202	1	0	0	0	0	0	0	0	1	3029	523	19	1		1	CD300LB	17	72521999	Silent	SNP	C	TCGA-28-2501-01A-01D-1696-08	23459685	72521999	8673211	49	13946											
EVPL	2125	broad.mit.edu	37	chr17	74005267	74005267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccgcctcttctgggccGcctcccgcacctcctggcgg	1	7	12	21	5	2	0	0	0	2	0	4	0	4	0	7	4	0	1	7	4	0	1			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:74005267G>A	uc010wss.1	-	21	4313	c.4085C>T	c.(4084-4086)gCg>gTg	p.A1362V	EVPL_uc002jqi.2_Missense_Mutation_p.A1340V|EVPL_uc010wst.1_Missense_Mutation_p.A810V	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	1340	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTCTGGGCCGCCTCCCGCAC	0.672													A	74005267	G	A	74005267	3	1	202	1	0	0	0	0	1	0	0	0	5333	1087	38	1	2086	1	EVPL	17	74005267	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08	1483268	74005267	7189943	50	13947											
ENGASE	64772	broad.mit.edu	37	chr17	77073797	77073797	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagcttttacttgtcttcGctggaggagctcttggcgtg	5	15	12	9	2	3	0	1	0	2	0	4	2	3	2	0	3	3	3	0	3	1	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr17:77073797G>T	uc002jwv.3	+	2	275	c.267G>T	c.(265-267)tcG>tcT	p.S89S	ENGASE_uc002jwu.1_Silent_p.S89S|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	89						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACTTGTCTTCGCTGGAGGAGC	0.527													T	77073797	G	T	77073797	2	4	202	1	0	0	0	0	0	0	0	1	5159	1074	38	4		4	ENGASE	17	77073797	Silent	SNP	G	TCGA-28-2501-01A-01D-1696-08	3068530	77073797	4121413	51	13948											
DENND1C	79958	broad.mit.edu	37	chr19	6479059	6479059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgctgcacggcggggctgGggggctccctggagtgggaa	6	6	20	9	2	0	0	0	0	0	0	1	2	1	2	1	8	2	4	1	8	2	0			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:6479059G>A	uc002mfe.3	-	4	277	c.185C>T	c.(184-186)cCc>cTc	p.P62L	DENND1C_uc002mfb.3_5'Flank|DENND1C_uc002mfc.3_5'Flank|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.P18L	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	62	UDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GGCGGGGCTGGGGGGCTCCCT	0.632													A	6479059	G	A	6479059	3	1	202	1	0	0	0	0	1	0	0	0	4467	1232	43	2	2296	2	DENND1C	19	6479059	Missense_Mutation	SNP	G	TCGA-28-2501-01A-01D-1696-08		6479059	52649924	52	13949											
MUC16	94025	broad.mit.edu	37	chr19	9069613	9069613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctacttcctgatactgCggaataaagagatgaatgtg	12	10	13	6	1	0	3	0	2	0	1	1	5	1	4	1	3	3	1	1	3	6	4			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr19:9069613C>T	uc002mkp.3	-	2	18037	c.17833G>A	c.(17833-17835)Gca>Aca	p.A5945T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5947	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						CCTGATACTGCGGAATAAAGA	0.512													T	9069613	C	T	9069613	3	4	202	1	0	0	0	0	1	0	0	0	10049	768	27	1	26018	1	MUC16	19	9069613	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08	2590554	9069613	50059370	53	13950											
MC3R	4159	broad.mit.edu	37	chr20	54824818	54824818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttccggagcctggaattgCgcaacacctttagggagatt	9	11	11	10	2	0	1	0	0	0	1	1	4	1	3	3	3	3	1	3	3	3	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr20:54824818C>T	uc002xxb.2	+	0	1031	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	p.R344C(1)		breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CCTGGAATTGCGCAACACCTT	0.517													T	54824818	C	T	54824818	3	4	202	1	0	0	0	0	1	0	0	0	9440	768	27	1	921	1	MC3R	20	54824818	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		54824818	8200702	54	13951											
TPTE	7179	broad.mit.edu	37	chr21	10969096	10969096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcactgataggtgacaccCgggctgctcctttaaattca	9	13	8	11	1	2	2	2	2	0	0	3	2	3	2	2	2	1	2	2	2	3	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr21:10969096C>T	uc002yip.1	-	6	520	c.152G>A	c.(151-153)cGg>cAg	p.R51Q	TPTE_uc002yis.1_Intron|TPTE_uc002yiq.1_Intron|TPTE_uc002yir.1_Intron|TPTE_uc010gkv.1_Intron	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	51					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGGTGACACCCGGGCTGCTCC	0.453													T	10969096	C	T	10969096	3	4	202	1	0	0	0	0	1	0	0	0	16531	652	23	1	1575	1	TPTE	21	10969096	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		10969096	37160799	55	13952											
MYO18B	84700	broad.mit.edu	37	chr22	26228907	26228907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgttcctgtgcagtttgaCctcccggacccctccccagg	4	10	11	16	1	0	1	0	1	0	0	3	2	3	2	7	3	1	3	7	3	0	2			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chr22:26228907C>A	uc003abz.1	+	15	3253	c.3003C>A	c.(3001-3003)gaC>gaA	p.D1001E	MYO18B_uc003aca.1_Missense_Mutation_p.D882E|MYO18B_uc010guy.1_Missense_Mutation_p.D882E|MYO18B_uc010guz.1_Missense_Mutation_p.D882E|MYO18B_uc011aka.1_Missense_Mutation_p.D155E|MYO18B_uc011akb.1_Missense_Mutation_p.D514E	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	1001	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGCAGTTTGACCTCCCGGACC	0.507													A	26228907	C	A	26228907	3	1	202	1	0	0	0	0	1	0	0	0	10142	506	18	4	3061	4	MYO18B	22	26228907	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		26228907	25075659	56	13953											
FMR1NB	158521	broad.mit.edu	37	chrX	147088330	147088330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcatcatcggggaccaCgagcttcaaatgttttgctc	8	15	8	10	2	3	0	3	0	0	0	5	2	3	1	1	2	2	3	1	2	1	5			TCGA-28-2501-01A-01D-1696-08	TCGA-28-2501-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a2cb25d-4069-4824-b09d-2d49634ed284	575c728e-f69f-4680-b7b8-ff3c62421402	g.chrX:147088330C>T	uc004fcm.3	+	2	580	c.506C>T	c.(505-507)aCg>aTg	p.T169M		NM_152578	NP_689791	Q8N0W7	FMR1N_HUMAN	Homo sapiens fragile X mental retardation 1 neighbor (FMR1NB), mRNA.	169	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TCGGGGACCACGAGCTTCAAA	0.368													T	147088330	C	T	147088330	3	4	202	1	0	0	0	0	1	0	0	0	6010	536	19	1	516	1	FMR1NB	23	147088330	Missense_Mutation	SNP	C	TCGA-28-2501-01A-01D-1696-08		147088330	8182230	57	13954											
MTOR	2475	broad.mit.edu	37	chr1	11188183	11188183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcagtgggtagatgagggCctgagggaaaaacagaagaa	15	6	16	4	0	1	5	1	2	0	3	1	6	1	6	1	3	1	1	1	3	5	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:11188183C>T	uc001asd.3	-	43	6032	c.5911_splice	c.e43-1	p.A1971_splice	MTOR_uc001asc.3_Splice_Site_p.A176_splice	NM_004958	NP_004949	P42345	MTOR_HUMAN	Homo sapiens mechanistic target of rapamycin (serine/threonine kinase) (MTOR), mRNA.	1971	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TAGATGAGGGCCTGAGGGAAA	0.458													T	11188183	C	T	11188183	3	4	203	1	0	0	0	0	1	0	0	0	10030	753	26	2	1802	2	MTOR	1	11188183	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		11188183	238062438	1	13955											
C1QC	714	broad.mit.edu	37	chr1	22973963	22973963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgatcagattcaacgCggtcctcaccaacccgcagg	10	6	9	16	3	3	2	3	1	0	1	4	2	4	2	4	2	3	1	4	2	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:22973963C>T	uc001bgc.4	+	2	528	c.425C>T	c.(424-426)gCg>gTg	p.A142V	C1QC_uc001bga.4_Missense_Mutation_p.A142V	NM_172369	NP_758957	P02747	C1QC_HUMAN	Homo sapiens complement component 1, q subcomponent, C chain (C1QC), transcript variant 2, mRNA.	142	C1q.				complement activation, classical pathway|innate immune response|negative regulation of granulocyte differentiation|negative regulation of macrophage differentiation	collagen				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.21e-27)|Colorectal(126;1.5e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.61e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000538)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.196)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGATTCAACGCGGTCCTCACC	0.567													T	22973963	C	T	22973963	3	4	203	1	0	0	0	0	1	0	0	0	1977	768	27	1	431	1	C1QC	1	22973963	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	11785780	22973963	226276658	2	13956											
SPOCD1	90853	broad.mit.edu	37	chr1	32279589	32279589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgggttcctctggcCtgtcctggtgggagttgtct	1	14	16	10	0	2	0	0	0	2	0	4	1	4	1	3	5	0	3	3	5	0	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:32279589C>T	uc001bts.1	-	1	1404	c.1346G>A	c.(1345-1347)aGg>aAg	p.R449K	SPOCD1_uc001btu.3_Missense_Mutation_p.R449K|SPOCD1_uc001btv.3_Intron	NM_144569	NP_653170	Q6ZMY3	SPOC1_HUMAN	Homo sapiens SPOC domain containing 1 (SPOCD1), mRNA.	449					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		TTCCTCTGGCCTGTCCTGGTG	0.567													T	32279589	C	T	32279589	3	4	203	1	0	0	0	0	1	0	0	0	15174	681	24	2	2364	2	SPOCD1	1	32279589	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	9305626	32279589	216971032	3	13957											
LPAR3	23566	broad.mit.edu	37	chr1	85331474	85331474	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcagtcaagctactGtccagaagcccctgacggag	12	5	13	11	1	1	2	1	1	0	1	2	4	2	4	3	2	4	2	3	2	4	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85331474G>A	uc001dkl.2	-	0	369	c.330C>T	c.(328-330)gaC>gaT	p.D110D	LPAR3_uc009wcj.1_Silent_p.D110D	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	110					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCAAGCTACTGTCCAGAAGCC	0.493													A	85331474	G	A	85331474	2	1	203	1	0	0	0	0	0	0	0	1	8976	1368	48	2		2	LPAR3	1	85331474	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	53051885	85331474	163919147	4	13958											
WDR63	126820	broad.mit.edu	37	chr1	85564213	85564213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttttaatatttttcagCctatgtttctccttgaaccg	7	21	4	9	1	3	1	1	1	2	0	4	1	3	1	3	0	2	1	3	0	4	9			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:85564213C>G	uc001dkt.3	+	13	1542	c.1351_splice	c.e13-1	p.P451_splice	WDR63_uc009wcl.3_Splice_Site_p.P412_splice	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	451										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TATTTTTCAGCCTATGTTTCT	0.318													G	85564213	C	G	85564213	3	3	203	1	0	0	0	0	1	0	0	0	17416	753	26	4	1397	4	WDR63	1	85564213	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	232739	85564213	163686408	5	13959											
ADAM30	11085	broad.mit.edu	37	chr1	120438173	120438173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactctggatatccaacgcGtattttgttaaaatctgtcc	11	15	6	9	2	2	0	0	0	2	0	4	1	4	1	2	1	2	2	2	1	6	6			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:120438173G>A	uc001eij.3	-	0	975	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	263	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TATCCAACGCGTATTTTGTTA	0.358													A	120438173	G	A	120438173	3	1	203	1	0	0	0	0	1	0	0	0	248	1145	40	1	1589	1	ADAM30	1	120438173	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	34873960	120438173	128812448	6	13960											
FLG	2312	broad.mit.edu	37	chr1	152277058	152277058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaccccgggtgtccaCgaatggtgtcctgaccctct	5	11	11	14	2	1	2	0	2	1	0	3	3	3	2	5	2	1	1	5	2	1	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr1:152277058C>T	uc001ezu.1	-	2	10340	c.10304G>A	c.(10303-10305)cGt>cAt	p.R3435H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3435	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGGGTGTCCACGAATGGTGTC	0.602									Ichthyosis				T	152277058	C	T	152277058	3	4	203	1	0	0	0	0	1	0	0	0	5971	536	19	1	1885	1	FLG	1	152277058	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	31838885	152277058	96973563	7	13961											
FBLN2	2199	broad.mit.edu	37	chr3	13679189	13679189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcttccgcattggccccGcgccagccttcacgggggac	6	8	11	16	4	2	0	1	0	1	0	3	1	3	1	5	3	1	1	5	3	1	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:13679189G>A	uc011avc.2	+	17	3848	c.3466G>A	c.(3466-3468)Gcg>Acg	p.A1156T	FBLN2_uc011auz.2_Missense_Mutation_p.A1135T|FBLN2_uc011avb.2_Missense_Mutation_p.A1109T|FBLN2_uc011ava.2_Missense_Mutation_p.A1156T	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1109	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.A1156T(2)|p.A575T(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATTGGCCCCGCGCCAGCCTT	0.622													A	13679189	G	A	13679189	3	1	203	1	0	0	0	0	1	0	0	0	5748	1087	38	1	2222	1	FBLN2	3	13679189	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		13679189	184343241	8	13962											
SCN10A	6336	broad.mit.edu	37	chr3	38833608	38833608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgaatagccacagggcccGagtggcactaaaccgggaaa	14	4	12	11	2	0	1	0	1	0	0	0	3	0	2	3	3	2	1	3	3	5	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:38833608G>A	uc003ciq.3	-	1	322	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	108					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CACAGGGCCCGAGTGGCACTA	0.463													A	38833608	G	A	38833608	3	1	203	1	0	0	0	0	1	0	0	0	14005	1057	37	1	5652	1	SCN10A	3	38833608	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	25154419	38833608	159188822	9	13963											
CCDC71	64925	broad.mit.edu	37	chr3	49200468	49200468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttttgcctcctcagcccTtttcctcttctgcccaacag	5	15	4	17	0	4	0	1	0	3	0	6	0	6	0	5	0	4	0	5	0	1	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:49200468T>C	uc003cwg.4	-	1	1312	c.1174A>G	c.(1174-1176)Agg>Ggg	p.R392G	CCDC71_uc021wxs.1_Missense_Mutation_p.R392G	NM_022903	NP_075054	Q8IV32	CCD71_HUMAN	Homo sapiens coiled-coil domain containing 71 (CCDC71), mRNA.	392										endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCTCAGCCCTTTTCCTCTTC	0.572													C	49200468	T	C	49200468	3	2	203	1	0	0	0	0	1	0	0	0	2872	1608	56	3	233	3	CCDC71	3	49200468	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	10366860	49200468	148821962	10	13964											
GPR128	84873	broad.mit.edu	37	chr3	100365559	100365559	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatactactaattttgcTgtattaatggtaaggatata	15	15	6	5	0	0	0	0	0	0	0	0	1	0	1	1	2	4	3	1	2	9	10			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:100365559T>C	uc003duc.3	+	9	1525	c.1257T>C	c.(1255-1257)gcT>gcC	p.A419A	GPR128_uc011bhc.2_Silent_p.A120A	NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	419	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						CTAATTTTGCTGTATTAATGG	0.413													C	100365559	T	C	100365559	2	2	203	1	0	0	0	0	0	0	0	1	6695	1567	55	3		3	GPR128	3	100365559	Silent	SNP	T	TCGA-28-2502-01B-01D-1494-08	51165091	100365559	97656871	11	13965											
PHLDB2	90102	broad.mit.edu	37	chr3	111603461	111603461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggctcgctcctggccatGtggaatggaagttccctgag	6	11	13	11	1	1	1	0	1	1	0	4	3	3	3	3	4	0	3	3	4	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:111603461G>C	uc010hqa.3	+	1	948	c.537G>C	c.(535-537)atG>atC	p.M179I	PHLDB2_uc003dyc.3_Missense_Mutation_p.M206I|PHLDB2_uc003dyd.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyg.3_Missense_Mutation_p.M179I|PHLDB2_uc003dyh.3_Missense_Mutation_p.M179I|PHLDB2_uc003dye.4_Missense_Mutation_p.M179I|PHLDB2_uc003dyf.4_Missense_Mutation_p.M179I	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	179						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TCCTGGCCATGTGGAATGGAA	0.537													C	111603461	G	C	111603461	3	2	203	1	0	0	0	0	1	0	0	0	11929	1377	48	4	624	4	PHLDB2	3	111603461	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	11237902	111603461	86418969	12	13966											
CASR	846	broad.mit.edu	37	chr3	122003132	122003132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggccctgggcttcctgatCggctacacctgcctgctggc	4	10	12	15	1	0	1	0	1	0	0	2	1	1	1	4	4	3	3	4	4	1	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr3:122003132C>T	uc003eew.4	+	6	2799	c.2361C>T	c.(2359-2361)atC>atT	p.I787I	CASR_uc003eev.4_Silent_p.I777I	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	777					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GCTTCCTGATCGGCTACACCT	0.582													T	122003132	C	T	122003132	2	4	203	1	0	0	0	0	0	0	0	1	2708	874	31	1		1	CASR	3	122003132	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	10399671	122003132	76019298	13	13967											
UGT2B28	54490	broad.mit.edu	37	chr4	70146911	70146911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtgtgatatgaagaaGtgggatcagttttacagtga	14	12	12	3	0	1	4	1	3	0	1	1	5	1	5	0	1	1	1	0	1	5	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:70146911G>T	uc003hej.3	+	0	695	c.693G>T	c.(691-693)aaG>aaT	p.K231N	UGT2B28_uc010ihr.3_Missense_Mutation_p.K231N	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	231					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	ATATGAAGAAGTGGGATCAGT	0.323													T	70146911	G	T	70146911	3	4	203	1	0	0	0	0	1	0	0	0	17062	1020	36	4	695	4	UGT2B28	4	70146911	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		70146911	121007365	14	13968											
INTS12	57117	broad.mit.edu	37	chr4	106604288	106604288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaccagtcaaacccaCaggtttctggttagctgacg	10	9	10	12	1	2	2	1	1	1	1	2	2	2	2	3	2	3	3	3	2	2	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr4:106604288C>T	uc003hxw.3	-	7	1249	c.991G>A	c.(991-993)Gtg>Atg	p.V331M	INTS12_uc010ilr.3_Missense_Mutation_p.V331M	NM_020395	NP_065128	Q96CB8	INT12_HUMAN	Homo sapiens integrator complex subunit 12 (INTS12), transcript variant 1, mRNA.	331	Ser-rich.				snRNA processing	integrator complex	protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;5.12e-07)		GTCAAACCCACAGGTTTCTGG	0.448													T	106604288	C	T	106604288	3	4	203	1	0	0	0	0	1	0	0	0	7835	478	17	2	401	2	INTS12	4	106604288	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	36457377	106604288	84549988	15	13969											
CDH18	1016	broad.mit.edu	37	chr5	19544080	19544080	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggcatcaatgttgaaaaAtctgtcgtcttcaacattgt	12	15	7	7	1	4	1	2	1	2	0	5	1	4	1	0	1	1	2	0	1	4	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:19544080A>T	uc003jgd.3	-	8	1822	c.1288T>A	c.(1288-1290)Ttt>Att	p.F430I	CDH18_uc011cnm.2_Missense_Mutation_p.F430I|CDH18_uc003jgc.3_Missense_Mutation_p.F430I|CDH18_uc021xwu.1_Missense_Mutation_p.F430I	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	430	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ATGTTGAAAAATCTGTCGTCT	0.353													T	19544080	A	T	19544080	3	4	203	1	0	0	0	0	1	0	0	0	3133	101	4	5	1104	5	CDH18	5	19544080	Missense_Mutation	SNP	A	TCGA-28-2502-01B-01D-1494-08		19544080	161371180	16	13970											
MAP1B	4131	broad.mit.edu	37	chr5	71490832	71490832	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctgaagccagccgcaaaAccacttcctagcaaatccgt	13	7	7	14	2	1	1	0	1	1	0	3	1	3	1	5	0	4	2	5	0	5	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr5:71490832A>G	uc003kbw.4	+	4	1891	c.1650A>G	c.(1648-1650)aaA>aaG	p.K550K	MAP1B_uc010iyw.1_Silent_p.K567K|MAP1B_uc010iyx.1_Silent_p.K424K|MAP1B_uc010iyy.1_Silent_p.K424K	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	550						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CAGCCGCAAAACCACTTCCTA	0.493													G	71490832	A	G	71490832	2	3	203	1	0	0	0	0	0	0	0	1	9303	40	2	3		3	MAP1B	5	71490832	Silent	SNP	A	TCGA-28-2502-01B-01D-1494-08	51946752	71490832	109424428	17	13971											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727356	25727356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcactgatatctttgagCgtatagcgagcgaggcatca	10	11	11	9	4	3	2	2	2	1	0	4	4	3	2	0	1	3	2	0	1	3	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:25727356C>T	uc003nfd.3	+	0	220	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	HIST1H2AA_uc003nfc.3_5'Flank	NM_170610	NP_733759	Q96A08	H2B1A_HUMAN	Homo sapiens histone cluster 1, H2ba (HIST1H2BA), mRNA.	74					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TATCTTTGAGCGTATAGCGAG	0.483													T	25727356	C	T	25727356	3	4	203	1	0	0	0	0	1	0	0	0	7195	768	27	1	222	1	HIST1H2BA	6	25727356	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		25727356	145387711	18	13972											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184091	26184093	+	In_Frame_Del	DEL	AGA	AGA	-																															gaaggccgtgaccaaggcgcAgaagaaggacggcaagaagc																										TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:26184091_26184093delAGA	uc003ngt.3	+	0	68_70	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del		NM_003523	NP_003517	P62807	H2B1C_HUMAN	Homo sapiens histone cluster 1, H2be (HIST1H2BE), mRNA.	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						ACCAAGGCGCAGAAGAAGGACGG	0.576													-	26184093	AGA	-	26184091	7	5	203	1	0	1	0	1	0	0	0	0	7199	188	7	0	70	0	HIST1H2BE	6	26184091	In_Frame_Del	DEL	AGA	TCGA-28-2502-01B-01D-1494-08	456735	26184091	144930976	19	13973											
TRIM10	10107	broad.mit.edu	37	chr6	30121907	30121907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagacaccctcacctgccGgggctgctccttcagggtca	8	7	11	15	1	3	1	3	0	0	1	4	2	4	1	4	3	2	2	4	3	1	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:30121907G>A	uc003npo.3	-	6	1361	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	TRIM10_uc003npn.2_Intron	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	429	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CTCACCTGCCGGGGCTGCTCC	0.642													A	30121907	G	A	30121907	3	1	203	1	0	0	0	0	1	0	0	0	16587	1115	39	1	252	1	TRIM10	6	30121907	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	3937816	30121907	140993160	20	13974											
MICB	4277	broad.mit.edu	37	chr6	31474137	31474137	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaagacacactatcgCgctatgcaggcagactgcct	13	6	9	13	2	0	3	0	0	0	3	1	3	0	3	2	1	2	3	2	1	4	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:31474137C>T	uc003ntn.4	+	2	659	c.543C>T	c.(541-543)cgC>cgT	p.R181R	MICB_uc011dnm.2_Silent_p.R149R|MICB_uc021yuq.1_Silent_p.R149R|MICB_uc003nto.4_Silent_p.R138R	NM_005931	NP_005922	Q29980	MICB_HUMAN	Homo sapiens MHC class I polypeptide-related sequence B (MICB), mRNA.	181					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						CACACTATCGCGCTATGCAGG	0.532													T	31474137	C	T	31474137	2	4	203	1	0	0	0	0	0	0	0	1	9650	755	27	1		1	MICB	6	31474137	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	1352230	31474137	139640930	21	13975											
MEP1A	4224	broad.mit.edu	37	chr6	46797155	46797155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggaagaggcagccctactgGagtctcggattctttaccca	9	9	11	12	2	2	1	0	0	2	1	3	4	2	4	2	4	3	1	2	4	3	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46797155G>A	uc011dwh.1	+	8	1083	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	MEP1A_uc010jzh.1_Missense_Mutation_p.E331K|MEP1A_uc011dwg.1_Missense_Mutation_p.E53K|MEP1A_uc011dwi.1_Missense_Mutation_p.E231K	NM_005588	NP_005579	Q16819	MEP1A_HUMAN	Homo sapiens meprin A, alpha (PABA peptide hydrolase) (MEP1A), mRNA.	331	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.V359I(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGCCCTACTGGAGTCTCGGAT	0.532													A	46797155	G	A	46797155	3	1	203	1	0	0	0	0	1	0	0	0	9550	1175	41	2	1029	2	MEP1A	6	46797155	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	15323018	46797155	124317912	22	13976											
GPR116	221395	broad.mit.edu	37	chr6	46845996	46845996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgctccaattaacattacCctgactgcagcagttcaaag	12	12	6	11	0	1	1	1	1	0	0	2	1	2	1	2	0	5	4	2	0	4	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:46845996C>A	uc003oyo.3	-	9	1472	c.1183G>T	c.(1183-1185)Ggt>Tgt	p.G395C	GPR116_uc003oyp.3_Intron|GPR116_uc003oyq.3_Missense_Mutation_p.G395C|GPR116_uc010jzi.1_Missense_Mutation_p.G67C|GPR116_uc003oyr.2_Missense_Mutation_p.G395C	NM_001098518	NP_056049	Q8IZF2	GP116_HUMAN	Homo sapiens G protein-coupled receptor 116 (GPR116), transcript variant 2, mRNA.	395	Ig-like 2.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTAACATTACCCTGACTGCAG	0.373													A	46845996	C	A	46845996	3	1	203	1	0	0	0	0	1	0	0	0	6687	623	22	4	2905	4	GPR116	6	46845996	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	48841	46845996	124269071	23	13977											
SYNE1	23345	broad.mit.edu	37	chr6	152527476	152527476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagctgccttgttgccGcagaaacactttttctttga	8	15	9	9	1	1	2	0	1	1	1	1	3	1	2	2	0	4	4	2	0	2	6			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:152527476G>A	uc021zhb.1	-	123	23069	c.22846C>T	c.(22846-22848)Cgg>Tgg	p.R7616W	SYNE1_uc003qos.4_Missense_Mutation_p.R2140W|SYNE1_uc003qot.4_Missense_Mutation_p.R7545W|SYNE1_uc003qou.4_Missense_Mutation_p.R7616W|SYNE1_uc003qor.4_Missense_Mutation_p.R516W	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	7616					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)		CCTTGTTGCCGCAGAAACACT	0.483										HNSCC(10;0.0054)			A	152527476	G	A	152527476	3	1	203	1	0	0	0	0	1	0	0	0	15542	1086	38	1	3704	1	SYNE1	6	152527476	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	105681480	152527476	18587591	24	13978											
UNC93A	54346	broad.mit.edu	37	chr6	167709567	167709567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggactcggggccgcccCgctgtggtctgcacagtgca	4	7	16	14	3	1	0	0	0	1	0	2	1	1	1	3	4	2	4	3	4	0	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr6:167709567C>T	uc003qvq.3	+	2	492	c.317C>T	c.(316-318)cCg>cTg	p.P106L	UNC93A_uc003qvr.3_Missense_Mutation_p.P106L	NM_018974	NP_061847	Q86WB7	UN93A_HUMAN	Homo sapiens unc-93 homolog A (C. elegans) (UNC93A), transcript variant 1, mRNA.	106						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		GGGGCCGCCCCGCTGTGGTCT	0.557													T	167709567	C	T	167709567	3	4	203	1	0	0	0	0	1	0	0	0	17098	652	23	1	327	1	UNC93A	6	167709567	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	15182091	167709567	3405500	25	13979											
SDK1	221935	broad.mit.edu	37	chr7	4153883	4153883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccgtggagcgaggtggTgcggggccggacgcgggagt	4	5	24	8	6	0	0	0	0	0	0	0	4	0	3	2	8	2	0	2	8	0	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:4153883T>C	uc003smx.3	+	24	3939	c.3800T>C	c.(3799-3801)gTg>gCg	p.V1267A	SDK1_uc010kso.3_Missense_Mutation_p.V543A	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1267	Fibronectin type-III 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGAGGTGGTGCGGGGCCGG	0.637													C	4153883	T	C	4153883	3	2	203	1	0	0	0	0	1	0	0	0	14061	1696	59	3	3898	3	SDK1	7	4153883	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		4153883	154984780	26	13980											
ZNF679	168417	broad.mit.edu	37	chr7	63727109	63727109	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgccttctcctcaacTcttaatactcataagaggat	10	14	5	12	0	4	1	2	0	2	1	5	2	4	2	3	1	3	0	3	1	4	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:63727109T>A	uc003tsx.3	+	4	1367	c.1098T>A	c.(1096-1098)acT>acA	p.T366T		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						TCTCCTCAACTCTTAATACTC	0.378													A	63727109	T	A	63727109	2	1	203	1	0	0	0	0	0	0	0	1	18187	1538	54	5		5	ZNF679	7	63727109	Silent	SNP	T	TCGA-28-2502-01B-01D-1494-08	59573226	63727109	95411554	27	13981											
MUC17	140453	broad.mit.edu	37	chr7	100696360	100696360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcgtgggggcaggggtCgtgctgatgctgatcatcct	4	10	17	10	2	1	2	1	2	0	0	4	2	2	2	2	5	2	3	2	5	0	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:100696360C>T	uc003uxp.1	+	9	13250	c.13197C>T	c.(13195-13197)gtC>gtT	p.V4399V	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4399						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.G4398G(1)		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)					GGGCAGGGGTCGTGCTGATGC	0.587													T	100696360	C	T	100696360	2	4	203	1	0	0	0	0	0	0	0	1	10050	871	31	1		1	MUC17	7	100696360	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	36969251	100696360	58442303	28	13982											
OR2A1	346528	broad.mit.edu	37	chr7	143929644	143929644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacagagaaaggtctgcGtcatgcaaccagcaaaggag	16	5	11	9	1	3	1	2	0	1	1	3	3	3	2	1	2	5	2	1	2	4	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:143929644G>A	uc011kub.2	-	0	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M		NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T98M(1)		large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					AAAGGTCTGCGTCATGCAACC	0.572													A	143929644	G	A	143929644	3	1	203	1	0	0	0	0	1	0	0	0	11050	1145	40	1		1	OR2A1	7	143929644	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	43233284	143929644	15209019	29	13983											
NOBOX	135935	broad.mit.edu	37	chr7	144098530	144098530	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccagcatcagccccGgtggcttctccagagactgc	7	8	10	16	1	3	1	1	0	2	1	5	2	3	1	4	2	3	2	4	2	0	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr7:144098530G>A	uc022aoj.1	-	3	453	c.453C>T	c.(451-453)acC>acT	p.T151T		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	151					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CATCAGCCCCGGTGGCTTCTC	0.637													A	144098530	G	A	144098530	2	1	203	1	0	0	0	0	0	0	0	1	10588	1103	39	1		1	NOBOX	7	144098530	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	168886	144098530	15040133	30	13984											
CALB1	793	broad.mit.edu	37	chr8	91094855	91094855	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagataatcaccgtcagcgTcgaaatggagccagatctcg	13	7	11	10	4	3	2	2	0	1	2	5	5	3	3	2	1	2	0	2	1	3	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:91094855T>C	uc003yel.1	-	0	253	c.71A>G	c.(70-72)gAc>gGc	p.D24G	CALB1_uc003yem.1_Intron|CALB1_uc011lge.1_5'Flank	NM_004929	NP_004920	P05937	CALB1_HUMAN	Homo sapiens calbindin 1, 28kDa (CALB1), mRNA.	24	EF-hand 1.					nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			ACCGTCAGCGTCGAAATGGAG	0.502													C	91094855	T	C	91094855	3	2	203	1	0	0	0	0	1	0	0	0	2599	1667	58	3	758	3	CALB1	8	91094855	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		91094855	55269167	31	13985											
ASAP1	50807	broad.mit.edu	37	chr8	131140283	131140283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgcactctgctctccaCggaaggccatggttagggcc	6	8	11	16	2	2	0	0	0	2	0	4	1	3	1	4	4	1	3	4	4	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr8:131140283C>T	uc003yta.2	-	15	1499	c.1271G>A	c.(1270-1272)cGt>cAt	p.R424H	ASAP1_uc003ysz.2_Missense_Mutation_p.R235H|ASAP1_uc011liw.2_Missense_Mutation_p.R417H	NM_018482	NP_060952	Q9ULH1	ASAP1_HUMAN	Homo sapiens ArfGAP with SH3 domain, ankyrin repeat and PH domain 1 (ASAP1), transcript variant 1, mRNA.	424					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CTGCTCTCCACGGAAGGCCAT	0.458													T	131140283	C	T	131140283	3	4	203	1	0	0	0	0	1	0	0	0	1015	536	19	1	2178	1	ASAP1	8	131140283	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	40045428	131140283	15223739	32	13986											
ANKS6	203286	broad.mit.edu	37	chr9	101530471	101530471	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctgggtttctgctccaaTaatccggctgcttttttcct	4	17	9	11	1	1	0	0	0	1	0	4	0	4	0	3	3	2	5	3	3	2	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:101530471T>A	uc004ayu.3	-	10	2055	c.2034A>T	c.(2032-2034)ttA>ttT	p.L678F	ANKS6_uc004ayv.2_Missense_Mutation_p.L140F|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.L377F	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	678	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TCTGCTCCAATAATCCGGCTG	0.582													A	101530471	T	A	101530471	3	1	203	1	0	0	0	0	1	0	0	0	692	1403	49	5	601	5	ANKS6	9	101530471	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		101530471	39682960	33	13987											
SMC2	10592	broad.mit.edu	37	chr9	106889054	106889054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagtaatggcagctgaggtgGctaaaaataaggtaggattt	15	10	13	3	0	0	1	0	1	0	0	0	2	0	2	0	5	1	5	0	5	7	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:106889054G>A	uc004bbv.3	+	18	2872	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	SMC2_uc004bbw.3_Missense_Mutation_p.A862T|SMC2_uc011lvl.2_Missense_Mutation_p.A862T|SMC2_uc004bbx.3_Missense_Mutation_p.A862T|SMC2_uc004bby.3_5'Flank	NM_001042551	NP_006435	O95347	SMC2_HUMAN	Homo sapiens structural maintenance of chromosomes 2 (SMC2), transcript variant 2, mRNA.	862					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AGCTGAGGTGGCTAAAAATAA	0.338													A	106889054	G	A	106889054	3	1	203	1	0	0	0	0	1	0	0	0	14877	1203	42	2	2654	2	SMC2	9	106889054	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	5358583	106889054	34324377	34	13988											
COL27A1	85301	broad.mit.edu	37	chr9	117014903	117014903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgatgggacccccaggcGtgcctggacccaaggggtcg	7	5	16	13	2	0	1	0	1	0	0	1	3	0	3	4	5	1	1	4	5	1	0	rs141446597		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr9:117014903G>A	uc011lxl.2	+	25	3064	c.3064G>A	c.(3064-3066)Gtg>Atg	p.V1022M	COL27A1_uc004bii.3_Non-coding_Transcript	NM_032888	NP_116277	Q8IZC6	CORA1_HUMAN	Homo sapiens collagen, type XXVII, alpha 1 (COL27A1), mRNA.	1022	Collagen-like 7.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						ACCCCCAGGCGTGCCTGGACC	0.607													A	117014903	G	A	117014903	3	1	203	1	0	0	0	0	1	0	0	0	3716	1145	40	1	3166	1	COL27A1	9	117014903	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	10125849	117014903	24198528	35	13989											
PTEN	5728	broad.mit.edu	37	chr10	89690805	89690805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaacttttcttttagttGtgctgaaagacattatgaca	12	18	6	5	0	1	3	0	2	1	1	1	3	1	3	0	0	2	2	0	0	5	8			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:89690805G>A	uc001kfb.3	+	3	1244	c.212G>A	c.(211-213)tGt>tAt	p.C71Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	71	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L70fs*7(8)|p.?(6)|p.C71Y(6)|p.R55fs*1(5)|p.C71fs*6(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L70P(1)|p.L70F(1)|p.C71W(1)|p.R55_L70>S(1)|p.F56fs*2(1)|p.C71fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCTTTTAGTTGTGCTGAAAGA	0.303		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89690805	G	A	89690805	3	1	203	1	0	0	0	0	1	0	0	0	12823	1377	48	2	226	2	PTEN	10	89690805	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		89690805	45843942	36	13990											
CPN1	1369	broad.mit.edu	37	chr10	101835788	101835788	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcctcgcacagaaactcCgacagctgcagcatcagctc	12	6	7	16	2	1	1	1	0	0	1	5	2	3	1	2	0	6	5	2	0	2	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr10:101835788C>T	uc001kql.2	-	1	560	c.300G>A	c.(298-300)tcG>tcA	p.S100S		NM_001308	NP_001299	P15169	CBPN_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 1 (CPN1), mRNA.	100	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding	p.S100L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ACAGAAACTCCGACAGCTGCA	0.582													T	101835788	C	T	101835788	2	4	203	1	0	0	0	0	0	0	0	1	3840	639	23	1		1	CPN1	10	101835788	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	12144983	101835788	33698959	37	13991											
GTF2H1	2965	broad.mit.edu	37	chr11	18369172	18369172	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgccatctgcttccaattCtaaatccataaaagagaata	15	12	5	9	0	2	1	0	0	2	1	4	2	4	1	3	0	2	1	3	0	7	5			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:18369172C>G	uc001moi.2	+	8	1569	c.875C>G	c.(874-876)tCt>tGt	p.S292C	GTF2H1_uc001moh.2_Missense_Mutation_p.S292C|GTF2H1_uc009yhm.2_Missense_Mutation_p.S176C	NM_001142307	NP_005307	P32780	TF2H1_HUMAN	Homo sapiens general transcription factor IIH, polypeptide 1, 62kDa (GTF2H1), transcript variant 2, mRNA.	292				S -> P (in Ref. 2; BAB15621).	mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						GCTTCCAATTCTAAATCCATA	0.363								Nucleotide excision repair (NER)					G	18369172	C	G	18369172	3	3	203	1	0	0	0	0	1	0	0	0	6915	913	32	4	901	4	GTF2H1	11	18369172	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		18369172	116637344	38	13992											
DEPDC7	91614	broad.mit.edu	37	chr11	33049298	33049299	+	Frame_Shift_Del	DEL	TC	TC	-																															ttagaggacctgtgggaaaaTctgagtttaaagcctgccaa																										TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:33049298_33049299delTC	uc001mub.3	+	2	623_624	c.531_532delTC	c.(529-534)aatctgfs	p.N177fs	DEPDC7_uc010reh.1_Frame_Shift_Del_p.N177fs|DEPDC7_uc001muc.3_Frame_Shift_Del_p.N168fs	NM_001077242	NP_001070710	Q96QD5	DEPD7_HUMAN	Homo sapiens DEP domain containing 7 (DEPDC7), transcript variant 1, mRNA.	177					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						TGTGggaaaatctgagtttaaa	0.376													-	33049299	TC	-	33049298	7	5	203	1	0	1	0	1	0	0	0	0	4483	1432	50	0	591	0	DEPDC7	11	33049298	Frame_Shift_Del	DEL	TC	TCGA-28-2502-01B-01D-1494-08	14680126	33049298	101957218	39	13993											
NUMA1	4926	broad.mit.edu	37	chr11	71729878	71729878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacctacccttctcggTgaggagcttgcggttctcag	6	10	11	14	2	2	1	1	1	2	0	4	2	2	2	3	3	4	2	3	3	1	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:71729878T>C	uc001orl.1	-	9	905	c.733A>G	c.(733-735)Acc>Gcc	p.T245A	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.T245A|NUMA1_uc001orm.1_Missense_Mutation_p.T245A|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.T245A|NUMA1_uc001oro.1_Missense_Mutation_p.T245A|NUMA1_uc009ysy.2_Missense_Mutation_p.T245A|NUMA1_uc001orp.3_Missense_Mutation_p.T245A|NUMA1_uc001orq.3_Missense_Mutation_p.T245A	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	245					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCTCGGTGAGGAGCTTG	0.577			T	RARA	APL								C	71729878	T	C	71729878	3	2	203	1	0	0	0	0	1	0	0	0	10826	1696	59	3	5686	3	NUMA1	11	71729878	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	38680580	71729878	63276638	40	13994											
MMP3	4314	broad.mit.edu	37	chr11	102713433	102713433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggttttcctccacttcGggatgccaggaaaggttctg	6	12	14	9	1	1	0	0	0	1	0	4	2	3	2	3	5	1	2	3	5	1	4	rs151123532		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr11:102713433G>A	uc001phj.1	-	1	385	c.320C>T	c.(319-321)cCg>cTg	p.P107L		NM_002422	NP_002413	P08254	MMP3_HUMAN	Homo sapiens matrix metallopeptidase 3 (stromelysin 1, progelatinase) (MMP3), mRNA.	107					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	CCTCCACTTCGGGATGCCAGG	0.473													A	102713433	G	A	102713433	3	1	203	1	0	0	0	0	1	0	0	0	9742	1116	39	1	1149	1	MMP3	11	102713433	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	30983555	102713433	32293083	41	13995											
KDM5A	5927	broad.mit.edu	37	chr12	416884	416884	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgacagaatagtctctagCctgggccttcgagaccgcat	10	9	11	11	2	1	3	0	1	1	2	3	4	1	3	3	1	1	1	3	1	3	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:416884C>T	uc001qif.1	-	22	4029	c.3666G>A	c.(3664-3666)agG>agA	p.R1222R		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1222					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						TAGTCTCTAGCCTGGGCCTTC	0.478			T	NUP98	AML								T	416884	C	T	416884	2	4	203	1	0	0	0	0	0	0	0	1	8191	738	26	2		2	KDM5A	12	416884	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08		416884	133435011	42	13996											
RERGL	79785	broad.mit.edu	37	chr12	18237478	18237478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgactagtttgtggctccCggattctgtagatcagcgct	8	13	11	9	2	2	2	1	1	1	1	3	3	3	3	1	2	1	4	1	2	3	4	rs61757396	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr12:18237478C>T	uc001rdq.3	-	4	502	c.308G>A	c.(307-309)cGg>cAg	p.R103Q		NM_024730	NP_079006	Q9H628	RERGL_HUMAN	Homo sapiens RERG/RAS-like (RERGL), mRNA.	103	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity	p.R103Q(3)		endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGTGGCTCCCGGATTCTGTA	0.383													T	18237478	C	T	18237478	3	4	203	1	0	0	0	0	1	0	0	0	13321	652	23	1	317	1	RERGL	12	18237478	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	17820594	18237478	115614417	43	13997											
LMO7	4008	broad.mit.edu	37	chr13	76301190	76301190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataagcttaaacctggcGtcattaagaagatcaataga	17	11	7	6	1	2	3	2	0	0	3	2	3	2	3	1	1	2	1	1	1	8	5	rs140368500	byFrequency	TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr13:76301190G>A	uc021rkq.1	+	2	501	c.166G>A	c.(166-168)Gtc>Atc	p.V56I	LMO7_uc010thv.2_Missense_Mutation_p.V108I|LMO7_uc001vjt.1_Missense_Mutation_p.V56I	NM_005358	NP_005349	Q8WWI1	LMO7_HUMAN	Homo sapiens LIM domain 7 (LMO7), transcript variant 1, mRNA.	108	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding	p.V108I(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TAAACCTGGCGTCATTAAGAA	0.303													A	76301190	G	A	76301190	3	1	203	1	0	0	0	0	1	0	0	0	8916	1145	40	1	336	1	LMO7	13	76301190	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		76301190	38868688	44	13998											
C14orf39	317761	broad.mit.edu	37	chr14	60938273	60938273	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaaaaatattaatacctcGaaatttcataaaaattgttt	20	14	2	5	1	1	0	1	0	0	0	2	1	1	0	1	0	2	1	1	0	10	7			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr14:60938273G>A	uc001xez.4	-	5	618	c.508C>T	c.(508-510)Cga>Tga	p.R170*	C14orf39_uc010apo.3_Intron	NM_174978	NP_777638	Q08AQ4	Q08AQ4_HUMAN	Homo sapiens chromosome 14 open reading frame 39 (C14orf39), mRNA.	170										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		TTAATACCTCGAAATTTCATA	0.249													A	60938273	G	A	60938273	4	1	203	1	0	0	0	0	0	1	0	0	1785	1066	37	1	1307	1	C14orf39	14	60938273	Nonsense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		60938273	46411267	45	13999											
RYR3	6263	broad.mit.edu	37	chr15	33855071	33855071	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagactccagtcacaagCgagacatagaaggcatggga	16	6	11	8	1	1	3	1	0	0	3	2	5	2	4	1	2	1	1	1	2	5	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:33855071C>T	uc001zhi.3	+	10	1076	c.1006C>T	c.(1006-1008)Cga>Tga	p.R336*	RYR3_uc010bar.3_Nonsense_Mutation_p.R336*	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	336					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGTCACAAGCGAGACATAGA	0.398													T	33855071	C	T	33855071	4	4	203	1	0	0	0	0	0	1	0	0	13861	760	27	1	1048	1	RYR3	15	33855071	Nonsense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08		33855071	68676321	46	14000											
EXD1	161829	broad.mit.edu	37	chr15	41488149	41488149	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttcaaaattctcttgtcTtctagtatcatctgaagtcc	10	16	4	11	0	6	1	2	1	4	0	8	1	7	1	2	0	0	1	2	0	5	6			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr15:41488149T>G	uc010ucv.2	-	7	893	c.621A>C	c.(619-621)gaA>gaC	p.E207D	EXD1_uc001znk.3_Missense_Mutation_p.E149D	NM_152596	NP_689809	Q8NHP7	EXD1_HUMAN	Homo sapiens exonuclease 3'-5' domain containing 1 (EXD1), mRNA.	149					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTCTCTTGTCTTCTAGTATCA	0.378													G	41488149	T	G	41488149	3	3	203	1	0	0	0	0	1	0	0	0	5338	1606	56	5	1117	5	EXD1	15	41488149	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08	7633078	41488149	61043243	47	14001											
CLCN7	1186	broad.mit.edu	37	chr16	1507256	1507256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacaagatttcaactcaccTtgaaatctcgtttcagtgac	13	12	5	11	1	4	3	3	2	1	1	5	3	4	3	1	0	1	1	1	0	3	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:1507256T>C	uc002clv.2	-	9	932	c.822_splice	c.e9+1	p.K274_splice	CLCN7_uc002clw.2_Splice_Site_p.K250_splice	NM_001287	NP_001278	P51798	CLCN7_HUMAN	Homo sapiens chloride channel 7 (CLCN7), transcript variant 1, mRNA.	274						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TCAACTCACCTTGAAATCTCG	0.592													C	1507256	T	C	1507256	3	2	203	1	0	0	0	0	1	0	0	0	3499	1623	56	3	1664	3	CLCN7	16	1507256	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		1507256	88847497	48	14002											
MKL2	57496	broad.mit.edu	37	chr16	14234551	14234551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcagagtgaagctgtggctCatgaattccaggaactctcc	10	10	10	11	0	3	3	2	2	1	1	5	4	4	4	2	2	2	2	2	2	3	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:14234551C>G	uc010uza.2	+	2	243	c.88C>G	c.(88-90)Cat>Gat	p.H30D	MKL2_uc002dcg.3_Missense_Mutation_p.H30D	NM_014048	NP_054767	Q9ULH7	MKL2_HUMAN	Homo sapiens MKL/myocardin-like 2 (MKL2), mRNA.	0					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						AGCTGTGGCTCATGAATTCCA	0.488													G	14234551	C	G	14234551	3	3	203	1	0	0	0	0	1	0	0	0	9677	826	29	4	90	4	MKL2	16	14234551	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	12727295	14234551	76120202	49	14003											
SETD1A	9739	broad.mit.edu	37	chr16	30977133	30977133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgggccgccgccccCtgagtaccccccacctcctc	5	6	8	22	2	0	2	0	2	0	0	2	2	1	2	10	1	1	1	10	1	1	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr16:30977133C>G	uc002ead.1	+	7	2617	c.1931C>G	c.(1930-1932)cCt>cGt	p.P644R		NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	644	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCGCCGCCCCCTGAGTACCCC	0.652													G	30977133	C	G	30977133	3	3	203	1	0	0	0	0	1	0	0	0	14223	681	24	4	1957	4	SETD1A	16	30977133	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	16742582	30977133	59377620	50	14004											
NF1	4763	broad.mit.edu	37	chr17	29496924	29496927	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															tttaggttacaggaattaacTgtttgttcagaagacaatgt																										TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:29496924_29496927delTGTT	uc002hgg.3	+	4	878_881	c.495_498delTGTT	c.(493-498)actgttfs	p.T165fs	NF1_uc002hge.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgf.2_Frame_Shift_Del_p.T165fs|NF1_uc002hgh.3_Frame_Shift_Del_p.T165fs|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	165					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.C167fs*10(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGAATTAACTGTTTGTTCAGAAG	0.328			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29496927	TGTT	-	29496924	7	5	203	1	0	1	0	1	0	0	0	0	10432	1567	55	0	513	0	NF1	17	29496924	Frame_Shift_Del	DEL	TGTT	TCGA-28-2502-01B-01D-1494-08		29496924	51698286	51	14005											
KRT36	8689	broad.mit.edu	37	chr17	39644595	39644595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctcatccaggatcctaCgcaggccgttgatgtcggcc	7	9	11	14	3	2	1	2	1	0	0	5	2	4	2	4	3	2	3	4	3	1	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:39644595C>T	uc002hwt.3	-	2	599	c.599G>A	c.(598-600)cGt>cAt	p.R200H		NM_003771	NP_003762	O76013	KRT36_HUMAN	Homo sapiens keratin 36 (KRT36), mRNA.	200	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGATCCTACGCAGGCCGTT	0.577													T	39644595	C	T	39644595	3	4	203	1	0	0	0	0	1	0	0	0	8531	536	19	1	824	1	KRT36	17	39644595	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	10147671	39644595	41550615	52	14006											
BCAS3	54828	broad.mit.edu	37	chr17	58756885	58756885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactggtggagttgtggttCgcccccaggctgtcacgtaa	6	11	14	10	2	1	0	1	0	0	0	2	1	1	1	2	4	1	5	2	4	2	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:58756885C>T	uc002iyv.4	+	1	176	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	BCAS3_uc010wow.1_Missense_Mutation_p.R19C|BCAS3_uc002iyu.4_Missense_Mutation_p.R23C|BCAS3_uc002iyw.4_Missense_Mutation_p.R19C	NM_001099432	NP_001092902	Q9H6U6	BCAS3_HUMAN	Homo sapiens breast carcinoma amplified sequence 3 (BCAS3), transcript variant 1, mRNA.	23						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			AGTTGTGGTTCGCCCCCAGGC	0.403													T	58756885	C	T	58756885	3	4	203	1	0	0	0	0	1	0	0	0	1357	884	31	1	69	1	BCAS3	17	58756885	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	19112290	58756885	22438325	53	14007											
ABCA10	10349	broad.mit.edu	37	chr17	67212489	67212489	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcaaatgtatgtcaatcCccaggagagcctatagtaga	15	8	10	8	0	1	2	1	0	0	2	2	4	2	2	3	1	2	3	3	1	7	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:67212489C>A	uc010dfa.1	-	7	1420	c.541G>T	c.(541-543)Gga>Tga	p.G181*	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Nonsense_Mutation_p.G73*	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	181					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TATGTCAATCCCCAGGAGAGC	0.368													A	67212489	C	A	67212489	4	1	203	1	0	0	0	0	0	1	0	0	29	632	22	4	4222	4	ABCA10	17	67212489	Nonsense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	8455604	67212489	13982721	54	14008											
KCNJ16	3773	broad.mit.edu	37	chr17	68128849	68128849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcgcattggtgattttcgGccaaaccacgtggtagaagg	9	10	14	8	3	0	2	0	1	0	1	1	2	0	2	2	5	1	2	2	5	3	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr17:68128849G>A	uc002jiq.3	+	2	857	c.717G>A	c.(715-717)cgG>cgA	p.R239R	KCNJ16_uc002jin.3_Silent_p.R207R|KCNJ16_uc002jio.3_Silent_p.R207R|KCNJ16_uc002jip.3_Silent_p.R207R|KCNJ16_uc021uch.1_Silent_p.R207R	NM_170742	NP_733938	Q9NPI9	IRK16_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 16 (KCNJ16), transcript variant 3, mRNA.	207					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					GTGATTTTCGGCCAAACCACG	0.468													A	68128849	G	A	68128849	2	1	203	1	0	0	0	0	0	0	0	1	8108	1190	42	2		2	KCNJ16	17	68128849	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	916360	68128849	13066361	55	14009											
ZNF556	80032	broad.mit.edu	37	chr19	2877814	2877814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcacgccggagggagaccGtatgagtgcaagcagtgtgg	10	6	17	8	3	0	2	0	1	0	1	0	4	0	3	2	3	3	4	2	3	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:2877814G>A	uc002lwp.1	+	3	945	c.858G>A	c.(856-858)ccG>ccA	p.P286P	ZNF556_uc002lwq.3_Silent_p.P285P	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		GAGGGAGACCGTATGAGTGCA	0.517													A	2877814	G	A	2877814	2	1	203	1	0	0	0	0	0	0	0	1	18088	1132	40	1		1	ZNF556	19	2877814	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		2877814	56251169	56	14010											
CCDC105	126402	broad.mit.edu	37	chr19	15132710	15132710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgggcacccaactcccGgaggctgcgcgcctcgcaca	7	4	12	18	5	0	0	0	0	0	0	2	1	1	1	3	3	2	3	3	3	1	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15132710G>A	uc002nae.2	+	5	1329	c.1230G>A	c.(1228-1230)ccG>ccA	p.P410P		NM_173482	NP_775753	Q8IYK2	CC105_HUMAN	Homo sapiens coiled-coil domain containing 105 (CCDC105), mRNA.	410					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CCCAACTCCCGGAGGCTGCGC	0.632													A	15132710	G	A	15132710	2	1	203	1	0	0	0	0	0	0	0	1	2766	1103	39	1		1	CCDC105	19	15132710	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	12254896	15132710	43996273	57	14011											
CYP4F22	126410	broad.mit.edu	37	chr19	15648391	15648391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagtggagccggcaccGtcgcctgctgacacccgcct	7	6	12	16	4	0	2	0	2	0	0	1	3	0	3	5	2	2	2	5	2	1	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:15648391G>A	uc002nbh.4	+	5	634	c.467G>A	c.(466-468)cGt>cAt	p.R156H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	156						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R156L(2)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCCGGCACCGTCGCCTGCTG	0.542													A	15648391	G	A	15648391	3	1	203	1	0	0	0	0	1	0	0	0	4222	1145	40	1	481	1	CYP4F22	19	15648391	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	515681	15648391	43480592	58	14012											
FFAR2	2867	broad.mit.edu	37	chr19	35940986	35940986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaagctctcccgccggcctCtgtatggagtgattgcagct	7	10	11	13	2	2	1	0	1	2	0	3	2	2	2	3	2	3	4	3	2	2	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:35940986C>T	uc002nzg.2	+	1	450	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	FFAR2_uc010eea.3_Silent_p.L124L	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	124						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCGCCGGCCTCTGTATGGAGT	0.577													T	35940986	C	T	35940986	2	4	203	1	0	0	0	0	0	0	0	1	5877	912	32	2		2	FFAR2	19	35940986	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	20292595	35940986	23187997	59	14013											
MAP4K1	11184	broad.mit.edu	37	chr19	39098515	39098515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacttacatgtccacgtcGtcatagtcatcgtcagacga	10	11	7	13	4	4	1	4	0	0	1	7	2	5	1	1	0	1	0	1	0	2	2			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:39098515G>A	uc002oix.1	-	15	1254	c.1146C>T	c.(1144-1146)gaC>gaT	p.D382D	MAP4K1_uc002oiy.1_Silent_p.D382D|MAP4K1_uc010xug.2_Silent_p.D44D	NM_007181	NP_009112	Q92918	M4K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 1 (MAP4K1), transcript variant 2, mRNA.	382					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTCCACGTCGTCATAGTCAT	0.597													A	39098515	G	A	39098515	2	1	203	1	0	0	0	0	0	0	0	1	9334	1136	40	1		1	MAP4K1	19	39098515	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08	3157529	39098515	20030468	60	14014											
DMPK	1760	broad.mit.edu	37	chr19	46275974	46275974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcagctgctcggcctcCagttccatgggtgtggggcc	5	9	14	13	1	1	0	1	0	0	0	4	0	3	0	4	4	3	4	4	4	1	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr19:46275974C>T	uc002pdi.1	-	10	1533	c.1347G>A	c.(1345-1347)ctG>ctA	p.L449L	DMPK_uc021uwb.1_5'Flank|DMPK_uc010xxs.1_Silent_p.L334L|DMPK_uc002pdd.1_Silent_p.L433L|DMPK_uc002pde.1_Silent_p.L428L|DMPK_uc002pdg.1_Silent_p.L418L|DMPK_uc002pdf.1_Silent_p.L423L|DMPK_uc002pdh.1_Silent_p.L418L|DMPK_uc010xxt.1_Silent_p.L418L	NM_001081563	NP_001075032	Q09013	DMPK_HUMAN	Homo sapiens dystrophia myotonica-protein kinase (DMPK), transcript variant 1, mRNA.	433					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCTCGGCCTCCAGTTCCATGG	0.627													T	46275974	C	T	46275974	2	4	203	1	0	0	0	0	0	0	0	1	4623	581	21	2		2	DMPK	19	46275974	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	7177459	46275974	12853009	61	14015											
ZNF831	128611	broad.mit.edu	37	chr20	57766702	57766702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagtccgagggcgccGggggcggcctcctggaggaa	6	4	18	13	4	1	1	1	0	0	1	3	4	3	3	5	6	0	0	5	6	1	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr20:57766702G>A	uc002yan.3	+	0	628	c.628G>A	c.(628-630)Ggg>Agg	p.G210R		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	210						intracellular	nucleic acid binding|zinc ion binding	p.A209V(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGAGGGCGCCGGGGGCGGCCT	0.677													A	57766702	G	A	57766702	3	1	203	1	0	0	0	0	1	0	0	0	18284	1116	39	1	630	1	ZNF831	20	57766702	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08		57766702	5258818	62	14016											
IFNGR2	3460	broad.mit.edu	37	chr21	34799266	34799266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaggttctcctctccctTtgacatcgctgatacctcca	7	13	5	16	1	3	2	1	2	2	0	7	2	4	2	4	1	1	2	4	1	1	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr21:34799266T>C	uc002yrp.4	+	3	1136	c.488T>C	c.(487-489)tTt>tCt	p.F163S		NM_005534	NP_005525	P38484	INGR2_HUMAN	Homo sapiens interferon gamma receptor 2 (interferon gamma transducer 1) (IFNGR2), mRNA.	163	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TCCTCTCCCTTTGACATCGCT	0.443													C	34799266	T	C	34799266	3	2	203	1	0	0	0	0	1	0	0	0	7608	1841	64	3	502	3	IFNGR2	21	34799266	Missense_Mutation	SNP	T	TCGA-28-2502-01B-01D-1494-08		34799266	13330629	63	14017											
MYH9	4627	broad.mit.edu	37	chr22	36696181	36696181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcctcaccttggccaGcttgcagttctggtcctcca	5	10	10	16	1	2	0	1	0	1	0	4	0	4	0	5	3	2	3	5	3	0	3			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:36696181G>A	uc003apg.3	-	22	3199	c.2968C>T	c.(2968-2970)Ctg>Ttg	p.L990L	MYH9_uc003aph.1_Silent_p.L854L	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	990					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACCTTGGCCAGCTTGCAGTTC	0.662			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				A	36696181	G	A	36696181	2	1	203	1	0	0	0	0	0	0	0	1	10118	962	34	2		2	MYH9	22	36696181	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		36696181	14608385	64	14018											
TMEM184B	25829	broad.mit.edu	37	chr22	38617546	38617546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccactgaggctgtgggagCgggagaggccgtgggcgcca	6	4	20	11	4	0	2	0	1	0	1	0	4	0	3	3	5	1	1	3	5	0	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:38617546C>T	uc003avf.1	-	8	1378	c.1154G>A	c.(1153-1155)cGc>cAc	p.R385H	TMEM184B_uc003avh.2_Missense_Mutation_p.R319H|TMEM184B_uc003avg.2_Missense_Mutation_p.R385H|TMEM184B_uc021wpo.1_Non-coding_Transcript	NM_001195071	NP_001182001	Q9Y519	T184B_HUMAN	Homo sapiens transmembrane protein 184B (TMEM184B), transcript variant 2, mRNA.	385						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GCTGTGGGAGCGGGAGAGGCC	0.652													T	38617546	C	T	38617546	3	4	203	1	0	0	0	0	1	0	0	0	16205	768	27	1	73	1	TMEM184B	22	38617546	Missense_Mutation	SNP	C	TCGA-28-2502-01B-01D-1494-08	1921365	38617546	12687020	65	14019											
MEI1	150365	broad.mit.edu	37	chr22	42191460	42191460	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctctctcatgaagaggtgGgtgatgttctgcaaggtgtg	7	13	14	7	0	3	3	1	2	2	1	5	3	4	3	1	3	1	2	1	3	2	1			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:42191460G>C	uc003baz.1	+	28	3605	c.3580G>C	c.(3580-3582)Ggt>Cgt	p.G1194R	bK250D10.C22.8_uc003bba.1_Intron|MEI1_uc011apd.1_Non-coding_Transcript|MEI1_uc003bbb.1_Missense_Mutation_p.G580R|MEI1_uc003bbc.1_Missense_Mutation_p.G562R|MEI1_uc010gym.1_Missense_Mutation_p.G527R|MEI1_uc003bbd.1_Intron|MEI1_uc010gyn.1_Non-coding_Transcript|MEI1_uc003bbe.1_Non-coding_Transcript|MEI1_uc003bbg.2_Intron	NM_152513	NP_689726	Q5TIA1	MEI1_HUMAN	Homo sapiens meiosis inhibitor 1 (MEI1), mRNA.	1194							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGAAGAGGTGGGTGATGTTCT	0.557													C	42191460	G	C	42191460	3	2	203	1	0	0	0	0	1	0	0	0	9540	1232	43	4	3694	4	MEI1	22	42191460	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	3573914	42191460	9113106	66	14020											
PANX2	56666	broad.mit.edu	37	chr22	50617532	50617532	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccatcctgagccgaaaCgccacacacccgctgctgca	10	5	7	19	3	1	1	1	1	0	0	2	2	2	1	5	0	4	3	5	0	1	0	rs145485598		TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chr22:50617532C>T	uc003bjn.4	+	2	1860	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	PANX2_uc003bjp.4_Silent_p.N486N|PANX2_uc003bjo.4_Silent_p.N620N	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	620					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TGAGCCGAAACGCCACACACC	0.716													T	50617532	C	T	50617532	2	4	203	1	0	0	0	0	0	0	0	1	11497	535	19	1		1	PANX2	22	50617532	Silent	SNP	C	TCGA-28-2502-01B-01D-1494-08	8426072	50617532	687034	67	14021											
FAM47B	170062	broad.mit.edu	37	chrX	34962109	34962109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttgggaatcctgtccGcggccttttgagagtcggat	6	14	12	9	3	0	1	0	1	0	1	3	4	2	3	3	3	0	0	3	3	1	4			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:34962109G>A	uc004ddi.2	+	0	1197	c.1161G>A	c.(1159-1161)ccG>ccA	p.P387P		NM_152631	NP_689844	Q8NA70	FA47B_HUMAN	Homo sapiens family with sequence similarity 47, member B (FAM47B), mRNA.	387										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATCCTGTCCGCGGCCTTTTG	0.567													A	34962109	G	A	34962109	2	1	203	1	0	0	0	0	0	0	0	1	5621	1074	38	1		1	FAM47B	23	34962109	Silent	SNP	G	TCGA-28-2502-01B-01D-1494-08		34962109	120308451	68	14022											
FAM45A	55855	broad.mit.edu	37	chrX	129629950	129629950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaagaggccatggcaatggGcaaactgcacaaagaaatgg	18	4	12	7	0	0	2	0	0	0	2	0	2	0	2	1	4	2	3	1	4	6	0			TCGA-28-2502-01B-01D-1494-08	TCGA-28-2502-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	707466c8-138a-4ed0-b806-6579464595cb	cb3968fd-b397-486f-9149-1de2830947f2	g.chrX:129629950G>A	uc010nrh.3	+	0	1036	c.818G>A	c.(817-819)gGc>gAc	p.G273D	BC043223_uc004evu.3_Intron	NM_207009	NP_996892	Q8TCE6	FA45A_HUMAN	Homo sapiens family with sequence similarity 45, member A (FAM45A), mRNA.	273								p.G273D(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	14		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0293)		ATGGCAATGGGCAAACTGCAC	0.448													A	129629950	G	A	129629950	3	1	203	1	0	0	0	0	1	0	0	0	5615	1218	42	2		2	FAM45A	23	129629950	Missense_Mutation	SNP	G	TCGA-28-2502-01B-01D-1494-08	94667841	129629950	25640610	69	14023											
DARC	2532	broad.mit.edu	37	chr1	159175495	159175495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttttcagacctctcttccGctggcagctctgccctggct	3	13	9	16	1	3	1	1	0	2	1	5	1	4	1	3	2	2	5	3	2	0	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:159175495G>A	uc001ftp.4	+	0	447	c.272G>A	c.(271-273)cGc>cAc	p.R91H	DARC_uc001fto.3_Missense_Mutation_p.R89H	NM_001122951	NP_001116423	Q16570	DUFFY_HUMAN	Homo sapiens Duffy blood group, chemokine receptor (DARC), transcript variant 1, mRNA.	89					defense response	integral to membrane|plasma membrane	C-C chemokine binding|chemokine receptor activity			large_intestine(2)|lung(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	8	all_hematologic(112;0.0429)					CCTCTCTTCCGCTGGCAGCTC	0.602													A	159175495	G	A	159175495	3	1	204	1	0	0	0	0	1	0	0	0	4274	1087	38	1	299	1	DARC	1	159175495	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		159175495	90075126	1	14024											
OBSCN	84033	broad.mit.edu	37	chr1	228529316	228529316	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccctgcctgtgtggcGtgagtgtccaccttcccggg	2	11	14	14	2	1	1	0	1	1	0	3	1	3	1	5	3	1	0	5	3	0	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr1:228529316G>A	uc009xez.1	+	74	18078	c.18034_splice	c.e74+1	p.R6012_splice	OBSCN_uc001hsn.3_Splice_Site_p.R6012_splice|OBSCN_uc001hsr.1_Splice_Site_p.R641_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6012					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTGTGTGGCGTGAGTGTCCA	0.667													A	228529316	G	A	228529316	5	1	204	1	0	0	0	0	0	0	1	0	10888	1159	40	1	18325	1	OBSCN	1	228529316	Splice_Site	SNP	G	TCGA-28-2509-01A-01D-1494-08	69353821	228529316	20721305	2	14025											
GALNT3	2591	broad.mit.edu	37	chr2	166611230	166611230	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacatagaggctgaccaacGcttttaatctaaaggaaaat	17	9	8	7	1	1	3	0	1	1	2	1	4	1	4	1	2	1	2	1	2	7	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:166611230G>A	uc010fph.1	-	8	1920	c.1533C>T	c.(1531-1533)agC>agT	p.S511S		NM_004482	NP_004473	Q14435	GALT3_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3) (GALNT3), mRNA.	511	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						GCTGACCAACGCTTTTAATCT	0.303													A	166611230	G	A	166611230	2	1	204	1	0	0	0	0	0	0	0	1	6268	1078	38	1		1	GALNT3	2	166611230	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		166611230	76588143	3	14026											
SESTD1	91404	broad.mit.edu	37	chr2	180014058	180014058	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatttcctttatcacttcCattgttaatcaaagcaagtt	11	17	4	9	0	2	1	2	1	0	0	4	1	4	1	2	0	1	3	2	0	4	7			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:180014058C>A	uc002uni.4	-	6	697	c.547G>T	c.(547-549)Gga>Tga	p.G183*		NM_178123	NP_835224	Q86VW0	SESD1_HUMAN	Homo sapiens SEC14 and spectrin domains 1 (SESTD1), mRNA.	183					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATCACTTCCATTGTTAATC	0.308													A	180014058	C	A	180014058	4	1	204	1	0	0	0	0	0	1	0	0	14220	603	21	4	1591	4	SESTD1	2	180014058	Nonsense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	13402828	180014058	63185315	4	14027											
SP100	6672	broad.mit.edu	37	chr2	231328786	231328786	+	Frame_Shift_Del	DEL	C	C	-																															ccattcttttgtgcagtgatCaataatgacaaccctttaga																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr2:231328786delC	uc002vqt.3	+	10	1203	c.1062delC	c.(1060-1062)atcfs	p.I354fs	SP100_uc002vqs.3_Frame_Shift_Del_p.I354fs|SP100_uc002vqu.1_Frame_Shift_Del_p.I354fs|SP100_uc002vqq.2_Frame_Shift_Del_p.I354fs|SP100_uc010zmc.2_Frame_Shift_Del_p.I329fs|SP100_uc002vqv.2_Frame_Shift_Del_p.I319fs	NM_003113	NP_003104	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 2, mRNA.	354					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GTGCAGTGATCAATAATGACA	0.408													-	231328786	C	-	231328786	7	5	204	1	0	1	0	1	0	0	0	0	15054	816	29	0	1104	0	SP100	2	231328786	Frame_Shift_Del	DEL	C	TCGA-28-2509-01A-01D-1494-08	51314728	231328786	11870587	5	14028											
TRAT1	50852	broad.mit.edu	37	chr3	108572602	108572602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatgcaatagatgccagcGtttctaagaccaccttagta	13	11	7	10	1	1	2	0	0	1	2	1	2	1	2	3	0	4	3	3	0	6	6	rs142175794	byFrequency	TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:108572602G>A	uc003dxi.1	+	5	583	c.439G>A	c.(439-441)Gtt>Att	p.V147I	TRAT1_uc010hpx.1_Missense_Mutation_p.V110I	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	147					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						AGATGCCAGCGTTTCTAAGAC	0.458													A	108572602	G	A	108572602	3	1	204	1	0	0	0	0	1	0	0	0	16567	1145	40	1	461	1	TRAT1	3	108572602	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		108572602	89449828	6	14029											
PARP9	83666	broad.mit.edu	37	chr3	122274913	122274913	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttttaaaattttgaaGtcattgtggttaatgggaat	12	20	8	1	0	1	1	1	1	0	0	1	2	1	2	0	2	0	1	0	2	6	8			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:122274913G>C	uc010hri.3	-	3	355	c.210C>G	c.(208-210)gaC>gaG	p.D70E	PARP9_uc003eff.4_Missense_Mutation_p.D35E|PARP9_uc011bjs.2_Missense_Mutation_p.D35E|PARP9_uc003efg.3_Intron|PARP9_uc003efi.3_Missense_Mutation_p.D35E|PARP9_uc003efh.3_Missense_Mutation_p.D70E|PARP9_uc003efj.2_Missense_Mutation_p.D35E	NM_001146102	NP_113646	Q8IXQ6	PARP9_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 9 (PARP9), transcript variant 2, mRNA.	70					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		AAATTTTGAAGTCATTGTGGT	0.353													C	122274913	G	C	122274913	3	2	204	1	0	0	0	0	1	0	0	0	11542	1020	36	4	2439	4	PARP9	3	122274913	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	13702311	122274913	75747517	7	14030											
DBR1	51163	broad.mit.edu	37	chr3	137880744	137880746	+	In_Frame_Del	DEL	TCA	TCA	-																															aatcatcttaagctgcatcgTcatcatcatcatccactgca																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr3:137880744_137880746delTCA	uc003erv.3	-	7	1774_1776	c.1620_1622delTGA	c.(1618-1623)gatgac>gac	p.540_541DD>D	DBR1_uc003eru.3_In_Frame_Del_p.489_490DD>D|DBR1_uc003ert.3_In_Frame_Del_p.308_309DD>D	NM_016216	NP_057300	Q9UK59	DBR1_HUMAN	Homo sapiens debranching enzyme homolog 1 (S. cerevisiae) (DBR1), mRNA.	540						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTGCATCGTCATCATCATCAT	0.399													-	137880746	TCA	-	137880744	7	5	204	1	0	1	0	1	0	0	0	0	4291	1667	58	0	16	0	DBR1	3	137880744	In_Frame_Del	DEL	TCA	TCGA-28-2509-01A-01D-1494-08	15605831	137880744	60141686	8	14031											
KIT	3815	broad.mit.edu	37	chr4	55564507	55564507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagaagacaacgacaCgctggtccgctgtcctctca	11	7	11	12	3	1	2	1	0	1	2	4	4	3	3	2	2	1	2	2	2	3	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:55564507C>T	uc010igr.3	+	2	482	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KIT_uc010igs.3_Missense_Mutation_p.T132M	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	132	Ig-like C2-type 2.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.D131N(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GACAACGACACGCTGGTCCGC	0.498		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				T	55564507	C	T	55564507	3	4	204	1	0	0	0	0	1	0	0	0	8387	536	19	1	405	1	KIT	4	55564507	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		55564507	135589769	9	14032											
SULT1B1	27284	broad.mit.edu	37	chr4	70592883	70592883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaaatttctcattttgggCcacggtgaagtaattcttcc	10	15	7	9	1	3	1	2	1	2	0	5	1	4	1	2	2	0	1	2	2	3	6			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:70592883C>T	uc003hen.3	-	7	1112	c.814G>A	c.(814-816)Gcc>Acc	p.A272T		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	272					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						TCATTTTGGGCCACGGTGAAG	0.343													T	70592883	C	T	70592883	3	4	204	1	0	0	0	0	1	0	0	0	15472	739	26	2	80	2	SULT1B1	4	70592883	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	15028376	70592883	120561393	10	14033											
FRAS1	80144	broad.mit.edu	37	chr4	79447726	79447726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagagtacaccatctacCtgatcccttgcacagtgcag	11	8	9	13	0	1	2	0	1	1	1	2	3	2	2	3	1	4	3	3	1	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:79447726C>G	uc003hlb.2	+	69	11280	c.10840C>G	c.(10840-10842)Ctg>Gtg	p.L3614V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3609					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACCATCTACCTGATCCCTTG	0.517													G	79447726	C	G	79447726	3	3	204	1	0	0	0	0	1	0	0	0	6093	680	24	4	11193	4	FRAS1	4	79447726	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	8854843	79447726	111706550	11	14034											
FAT1	2195	broad.mit.edu	37	chr4	187522529	187522529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttgttttcattttccGtcagacggtatttcacgtag	8	18	7	8	3	3	1	3	0	0	1	4	1	4	1	1	1	0	3	1	1	3	9			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr4:187522529G>A	uc003izf.3	-	20	11722	c.11534C>T	c.(11533-11535)aCg>aTg	p.T3845M		NM_005245	NP_005236	Q14517	FAT1_HUMAN	Homo sapiens FAT tumor suppressor homolog 1 (Drosophila) (FAT1), mRNA.	3845	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.T3845M(2)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCATTTTCCGTCAGACGGTA	0.413										HNSCC(5;0.00058)			A	187522529	G	A	187522529	3	1	204	1	0	0	0	0	1	0	0	0	5738	1145	40	1	2260	1	FAT1	4	187522529	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	108074803	187522529	3631747	12	14035											
PCDHB7	56129	broad.mit.edu	37	chr5	140553530	140553530	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggctgtttttaggattagaGacagagattccgggaacaat	12	12	12	5	1	0	2	0	0	0	2	1	6	1	4	1	3	1	2	1	3	4	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:140553530G>C	uc003lit.3	+	0	1288	c.1114G>C	c.(1114-1116)Gac>Cac	p.D372H		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	372	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TAGGATTAGAGACAGAGATTC	0.468													C	140553530	G	C	140553530	3	2	204	1	0	0	0	0	1	0	0	0	11623	942	33	4	1116	4	PCDHB7	5	140553530	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		140553530	40361730	13	14036											
GM2A	2760	broad.mit.edu	37	chr5	150639411	150639411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggagcctgaccccatcatCgttcctggaaatgtgaccct	8	10	9	14	1	1	2	1	2	0	0	3	4	2	4	5	2	1	1	5	2	1	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150639411C>T	uc003ltr.4	+	1	342	c.177C>T	c.(175-177)atC>atT	p.I59I	GM2A_uc011dcr.2_Silent_p.I59I|GM2A_uc003ltt.1_5'UTR	NM_000405	NP_000396	P17900	SAP3_HUMAN	Homo sapiens GM2 ganglioside activator (GM2A), transcript variant 1, mRNA.	59			I -> V (in dbSNP:rs153477).			lysosome|nucleolus	sphingolipid activator protein activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|pancreas(1)|upper_aerodigestive_tract(2)	8		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCCCATCATCGTTCCTGGAA	0.587													T	150639411	C	T	150639411	2	4	204	1	0	0	0	0	0	0	0	1	6540	874	31	1		1	GM2A	5	150639411	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	10085881	150639411	30275849	14	14037											
FAT2	2196	broad.mit.edu	37	chr5	150922530	150922530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagactgtagatgactggatCttgagctgccactgctttaa	10	13	10	8	0	1	4	0	2	1	2	1	5	1	5	1	1	3	3	1	1	3	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:150922530C>G	uc003lue.4	-	8	8171	c.8158G>C	c.(8158-8160)Gat>Cat	p.D2720H		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2720	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGACTGGATCTTGAGCTGCC	0.478													G	150922530	C	G	150922530	3	3	204	1	0	0	0	0	1	0	0	0	5739	913	32	4	4951	4	FAT2	5	150922530	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	283119	150922530	29992730	15	14038											
SLIT3	6586	broad.mit.edu	37	chr5	168233574	168233574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagttggcattgcaggatGggggctccgagtggggggct	5	9	21	6	1	0	0	0	0	0	0	1	3	1	2	1	8	1	5	1	8	0	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:168233574G>T	uc010jjg.3	-	8	1232	c.812C>A	c.(811-813)cCa>cAa	p.P271Q	SLIT3_uc003mab.3_Missense_Mutation_p.P271Q|SLIT3_uc010jji.2_Missense_Mutation_p.P271Q|SLIT3_uc003mac.1_Missense_Mutation_p.P68Q	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	271	LRRNT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATTGCAGGATGGGGGCTCCGA	0.567													T	168233574	G	T	168233574	3	4	204	1	0	0	0	0	1	0	0	0	14835	1348	47	4	3871	4	SLIT3	5	168233574	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	17311044	168233574	12681686	16	14039											
FOXI1	2299	broad.mit.edu	37	chr5	169535115	169535115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgacaatggaaatttcCgcaggaaaaggaagagaaaa	18	7	11	5	2	0	1	0	0	0	1	2	6	1	4	1	3	0	2	1	3	7	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr5:169535115C>T	uc003mai.4	+	1	682	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	213					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAAATTTCCGCAGGAAAAG	0.488									Pendred syndrome				T	169535115	C	T	169535115	3	4	204	1	0	0	0	0	1	0	0	0	6060	652	23	1	643	1	FOXI1	5	169535115	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	1301541	169535115	11380145	17	14040											
ARID1B	57492	broad.mit.edu	37	chr6	157495209	157495209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcctctcaaagcagaCggcaaagaagaaggcactcc	13	4	9	15	1	1	3	1	0	1	3	3	3	2	3	4	2	2	3	4	2	4	0	rs147853607		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr6:157495209C>T	uc003qqp.3	+	9	3054	c.3054C>T	c.(3052-3054)gaC>gaT	p.D1018D	ARID1B_uc003qqo.3_Silent_p.D1031D|ARID1B_uc003qqn.3_Silent_p.D1018D	NM_017519	NP_059989	Q8NFD5	ARI1B_HUMAN	Homo sapiens AT rich interactive domain 1B (SWI1-like) (ARID1B), transcript variant 1, mRNA.	1018					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCAAAGCAGACGGCAAAGAAG	0.507													T	157495209	C	T	157495209	2	4	204	1	0	0	0	0	0	0	0	1	917	535	19	1		1	ARID1B	6	157495209	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08		157495209	13619858	18	14041											
GCC1	79571	broad.mit.edu	37	chr7	127222986	127222986	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccttctccccatcagcAgcctccgagctgggcattat	7	10	9	15	1	2	0	1	0	1	0	4	1	3	0	5	1	4	4	5	1	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:127222986A>G	uc003vma.3	-	1	1828	c.1410T>C	c.(1408-1410)gcT>gcC	p.A470A		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	470						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCCCATCAGCAGCCTCCGAGC	0.542													G	127222986	A	G	127222986	2	3	204	1	0	0	0	0	0	0	0	1	6339	175	7	3		3	GCC1	7	127222986	Silent	SNP	A	TCGA-28-2509-01A-01D-1494-08		127222986	31915677	19	14042											
OR2A25	392138	broad.mit.edu	37	chr7	143771552	143771552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcacggtgccccagatGctggtgaacctcctgcatcc	7	8	11	15	1	0	2	0	1	0	1	2	2	2	2	5	2	6	4	5	2	1	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:143771552G>A	uc011ktx.2	+	0	240	c.240G>A	c.(238-240)atG>atA	p.M80I		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M80I(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGCCCCAGATGCTGGTGAACC	0.547													A	143771552	G	A	143771552	3	1	204	1	0	0	0	0	1	0	0	0	11054	1319	46	2	242	2	OR2A25	7	143771552	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	16548566	143771552	15367111	20	14043											
ABCB8	11194	broad.mit.edu	37	chr7	150737710	150737710	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccgttacatttcagaaCgtctgcttcaggtcagcacg	8	11	10	12	3	4	1	3	0	1	1	5	1	5	1	1	2	4	4	1	2	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr7:150737710C>G	uc003wil.4	+	11	1521	c.1428C>G	c.(1426-1428)aaC>aaG	p.N476K	ABCB8_uc010lpw.1_Missense_Mutation_p.N348K|ABCB8_uc010lpx.3_Missense_Mutation_p.N459K|ABCB8_uc011kvd.2_Missense_Mutation_p.N371K|ABCB8_uc003wim.4_Missense_Mutation_p.N254K|ABCB8_uc003wik.4_Missense_Mutation_p.N459K	NM_007188	NP_009119	Q9NUT2	ABCB8_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 8 (ABCB8), nuclear gene encoding mitochondrial protein, mRNA.	476	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CATTTCAGAACGTCTGCTTCA	0.632													G	150737710	C	G	150737710	3	3	204	1	0	0	0	0	1	0	0	0	47	535	19	4	1419	4	ABCB8	7	150737710	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	6966158	150737710	8400953	21	14044											
SGK223	157285	broad.mit.edu	37	chr8	8235473	8235473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcgagaattgccatcaGgggaggtagagggaccagca	13	4	16	8	1	1	2	1	0	0	2	1	6	1	4	2	4	3	2	2	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:8235473G>T	uc003wsh.4	-	1	446	c.446C>A	c.(445-447)cCt>cAt	p.P149H		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	149							ATP binding|non-membrane spanning protein tyrosine kinase activity										ATTGCCATCAGGGGAGGTAGA	0.642													T	8235473	G	T	8235473	3	4	204	1	0	0	0	0	1	0	0	0	14303	1000	35	4	3778	4	SGK223	8	8235473	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		8235473	138128549	22	14045											
PRKDC	5591	broad.mit.edu	37	chr8	48869810	48869810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaactttaggatttcttctCtacattcacgaaactgtaat	14	15	4	8	1	3	0	1	0	2	0	4	2	3	1	0	1	3	1	0	1	6	7			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:48869810C>T	uc003xqi.3	-	2	302	c.245G>A	c.(244-246)aGa>aAa	p.R82K	PRKDC_uc003xqj.3_Missense_Mutation_p.R82K|MCM4_uc003xqk.2_5'Flank|MCM4_uc003xql.2_5'Flank|MCM4_uc011ldi.2_5'Flank|MCM4_uc010lxw.2_5'Flank	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	82					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GATTTCTTCTCTACATTCACG	0.318								Non-homologous end-joining					T	48869810	C	T	48869810	3	4	204	1	0	0	0	0	1	0	0	0	12607	913	32	2	12476	2	PRKDC	8	48869810	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	40634337	48869810	97494212	23	14046											
TSNARE1	203062	broad.mit.edu	37	chr8	143425640	143425640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccgtgccaaacagcagctgGtggtgcttgctcaccttgga	7	9	12	13	1	1	0	1	0	0	0	1	1	1	1	3	3	6	4	3	3	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr8:143425640G>A	uc003ywj.3	-	2	471	c.432C>T	c.(430-432)caC>caT	p.H144H	TSNARE1_uc011lju.2_Silent_p.H144H|TSNARE1_uc003ywk.3_Silent_p.H144H|TSNARE1_uc003ywl.4_Intron	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	144					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACAGCAGCTGGTGGTGCTTGC	0.667													A	143425640	G	A	143425640	2	1	204	1	0	0	0	0	0	0	0	1	16731	1252	44	2		2	TSNARE1	8	143425640	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	94555830	143425640	2938382	24	14047											
ZNF658	26149	broad.mit.edu	37	chr9	40772759	40772759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgatgtgcacagaggtgtGttctttgggagaaagttttc	8	15	13	5	0	2	3	0	1	2	2	3	4	2	3	0	2	1	3	0	2	1	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr9:40772759G>A	uc004abs.2	-	4	2668	c.2516C>T	c.(2515-2517)aCa>aTa	p.T839I	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.T839I	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ACAGAGGTGTGTTCTTTGGGA	0.428													A	40772759	G	A	40772759	3	1	204	1	0	0	0	0	1	0	0	0	18170	1377	48	2	667	2	ZNF658	9	40772759	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		40772759	100440672	25	14048											
AGAP6	414189	broad.mit.edu	37	chr10	51748567	51748567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtccctctgaatctgagaCctatgaggcaggagctaggg	9	9	14	9	0	2	3	0	3	2	1	3	5	3	4	2	3	1	2	2	3	3	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:51748567C>T	uc001jix.4	+	0	490	c.92C>T	c.(91-93)aCc>aTc	p.T31I		NM_001077665	NP_001071133	C9IYN2	C9IYN2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 6 (AGAP6), mRNA.	31					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						GAATCTGAGACCTATGAGGCA	0.597													T	51748567	C	T	51748567	3	4	204	1	0	0	0	0	1	0	0	0	372	507	18	2	94	2	AGAP6	10	51748567	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		51748567	83786180	26	14049											
VENTX	27287	broad.mit.edu	37	chr10	135053299	135053299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacctgagccctctggagCggaagaggctggccagggag	9	5	17	10	1	1	2	0	1	1	1	1	5	1	5	3	5	3	2	3	5	2	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr10:135053299C>T	uc010quy.1	+	1	372	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W		NM_014468	NP_055283	O95231	VENTX_HUMAN	Homo sapiens VENT homeobox (VENTX), mRNA.	121					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		CCCTCTGGAGCGGAAGAGGCT	0.687													T	135053299	C	T	135053299	3	4	204	1	0	0	0	0	1	0	0	0	17255	759	27	1	367	1	VENTX	10	135053299	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	83304732	135053299	481448	27	14050											
OR4C3	256144	broad.mit.edu	37	chr11	48346680	48346680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgatctatgtggtcaCggtttgtggcaacatgctca	7	15	11	8	1	3	1	2	1	1	0	3	1	3	1	0	3	3	4	0	3	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48346680C>T	uc010rhv.2	+	0	188	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001004702	NP_001004702	Q8NH37	OR4C3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 3 (OR4C3), mRNA.	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TATGTGGTCACGGTTTGTGGC	0.463													T	48346680	C	T	48346680	3	4	204	1	0	0	0	0	1	0	0	0	11126	536	19	1	190	1	OR4C3	11	48346680	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		48346680	86659836	28	14051											
OR4A47	403253	broad.mit.edu	37	chr11	48510660	48510660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttatcgagcacattttcGgtgggtcagaggtctttctc	6	16	10	9	2	4	1	1	0	3	1	7	2	4	1	0	3	1	1	0	3	1	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:48510660G>A	uc010rhx.2	+	0	316	c.316G>A	c.(316-318)Ggt>Agt	p.G106S		NM_001005512	NP_001005512	Q6IF82	O4A47_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 47 (OR4A47), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						GCACATTTTCGGTGGGTCAGA	0.453													A	48510660	G	A	48510660	3	1	204	1	0	0	0	0	1	0	0	0	11118	1116	39	1	318	1	OR4A47	11	48510660	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	163980	48510660	86495856	29	14052											
OR5W2	390148	broad.mit.edu	37	chr11	55681751	55681751	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgcaaagatacagaagAccaagaattgcagagcacag	19	5	9	8	0	1	5	0	0	1	5	1	5	1	5	1	0	4	3	1	0	6	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:55681751A>G	uc010rir.2	-	0	308	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V103V(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GATACAGAAGACCAAGAATTG	0.468													G	55681751	A	G	55681751	3	3	204	1	0	0	0	0	1	0	0	0	11261	275	10	3	626	3	OR5W2	11	55681751	Missense_Mutation	SNP	A	TCGA-28-2509-01A-01D-1494-08	7171091	55681751	79324765	30	14053											
GANAB	23193	broad.mit.edu	37	chr11	62400735	62400735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctctgccttcccctgagtCtcctctggctgttaagaaga	6	14	8	13	0	3	3	0	1	3	2	6	3	4	3	4	1	1	2	4	1	2	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:62400735C>T	uc001nua.3	-	7	738	c.705G>A	c.(703-705)gaG>gaA	p.E235E	GANAB_uc001nub.3_Silent_p.E213E|GANAB_uc001nuc.3_Silent_p.E116E|GANAB_uc010rma.2_Silent_p.E121E|GANAB_uc010rmb.2_Silent_p.E99E	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	213					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCCCCTGAGTCTCCTCTGGCT	0.527													T	62400735	C	T	62400735	2	4	204	1	0	0	0	0	0	0	0	1	6287	912	32	2		2	GANAB	11	62400735	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	6718984	62400735	72605781	31	14054											
USP28	57646	broad.mit.edu	37	chr11	113672259	113672259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcatgacctcaatggCatccagatcatccttggaaa	11	12	7	11	0	3	2	3	1	1	1	6	3	5	3	3	2	0	2	3	2	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:113672259C>T	uc001poh.3	-	23	3037	c.3004G>A	c.(3004-3006)Gcc>Acc	p.A1002T	USP28_uc001pog.3_Missense_Mutation_p.A678T|USP28_uc010rwy.2_Missense_Mutation_p.A845T|USP28_uc001poi.3_Missense_Mutation_p.A325T	NM_020886	NP_065937	Q96RU2	UBP28_HUMAN	Homo sapiens ubiquitin specific peptidase 28 (USP28), mRNA.	1002					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACCTCAATGGCATCCAGATCA	0.393													T	113672259	C	T	113672259	3	4	204	1	0	0	0	0	1	0	0	0	17160	710	25	2	237	2	USP28	11	113672259	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	51271524	113672259	21334257	32	14055											
DDX25	29118	broad.mit.edu	37	chr11	125788549	125788549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaacgctaagtggttgacCgtggagatgatacaggatgg	12	8	15	6	3	0	3	0	2	0	1	0	6	0	4	1	4	2	2	1	4	3	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr11:125788549C>T	uc001qcz.4	+	9	1206	c.1065C>T	c.(1063-1065)acC>acT	p.T355T	DDX25_uc010sbk.2_Silent_p.T355T	NM_013264	NP_037396	Q9UHL0	DDX25_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 25 (DDX25), mRNA.	355	Helicase C-terminal.				mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		AGTGGTTGACCGTGGAGATGA	0.512													T	125788549	C	T	125788549	2	4	204	1	0	0	0	0	0	0	0	1	4386	639	23	1		1	DDX25	11	125788549	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	12116290	125788549	9217967	33	14056											
LRRK2	120892	broad.mit.edu	37	chr12	40618993	40618996	+	Frame_Shift_Del	DEL	AGTC	AGTC	-																															gaaactctgaagaagttgatAgtcaggctgaacaatgtcca																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:40618993_40618996delAGTC	uc001rmg.4	+	0	181_184	c.60_63delAGTC	c.(58-63)atagtcfs	p.I20fs		NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	20					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGAAGTTGATAGTCAGGCTGAACA	0.544													-	40618996	AGTC	-	40618993	7	5	204	1	0	1	0	1	0	0	0	0	9103	410	15	0	62	0	LRRK2	12	40618993	Frame_Shift_Del	DEL	AGTC	TCGA-28-2509-01A-01D-1494-08		40618993	93232902	34	14057											
PTPRB	5787	broad.mit.edu	37	chr12	70928634	70928634	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgcatatcttaaactcccgGatggtccactcaggcaggac	10	8	9	14	2	2	0	1	0	1	0	4	2	4	2	3	4	1	2	3	4	3	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:70928634G>A	uc001swb.4	-	27	5559	c.5529C>T	c.(5527-5529)atC>atT	p.I1843I	BC031864_uc001svz.3_Intron|PTPRB_uc010sto.2_Silent_p.I1753I|PTPRB_uc010stp.2_Silent_p.I1753I|PTPRB_uc001swc.4_Silent_p.I2061I|PTPRB_uc001swa.4_Silent_p.I1973I	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1843	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TAAACTCCCGGATGGTCCACT	0.512													A	70928634	G	A	70928634	2	1	204	1	0	0	0	0	0	0	0	1	12884	1164	41	2		2	PTPRB	12	70928634	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	30309641	70928634	62923261	35	14058											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100451481	100451482	+	Frame_Shift_Del	DEL	AG	AG	-																															catattcttataagaaacacAgagaggagccaggttgggtg																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:100451481_100451482delAG	uc001tgq.3	-	14	3520_3521	c.3291_3292delCT	c.(3289-3294)ctctgtfs	p.L1097fs	UHRF1BP1L_uc001tgp.3_Frame_Shift_Del_p.L747fs	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1097										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAAGAAACACAGAGAGGAGCCA	0.332													-	100451482	AG	-	100451481	7	5	204	1	0	1	0	1	0	0	0	0	17071	188	7	0	1130	0	UHRF1BP1L	12	100451481	Frame_Shift_Del	DEL	AG	TCGA-28-2509-01A-01D-1494-08	29522847	100451481	33400414	36	14059											
SLC24A6	80024	broad.mit.edu	37	chr12	113737741	113737741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggctgagccccagggcGcctgccaggacccacaccag	9	2	13	17	2	0	1	0	1	0	0	0	3	0	2	6	3	2	1	6	3	0	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:113737741G>A	uc001tvc.3	-	15	1806	c.1596C>T	c.(1594-1596)ggC>ggT	p.G532G	SLC24A6_uc001tuz.3_Silent_p.G237G|SLC24A6_uc001tva.3_Non-coding_Transcript|SLC24A6_uc001tvb.3_Silent_p.G270G	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	532					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						GCCCCAGGGCGCCTGCCAGGA	0.627													A	113737741	G	A	113737741	2	1	204	1	0	0	0	0	0	0	0	1	14564	1074	38	1		1	SLC24A6	12	113737741	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	13286260	113737741	20114154	37	14060											
KSR2	283455	broad.mit.edu	37	chr12	118105354	118105354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccacaaagaaggagcGgagggagcgctcggacagca	12	3	16	10	3	0	1	0	0	0	1	2	5	1	5	1	4	3	2	1	4	2	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:118105354G>A	uc001two.2	-	4	1064	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	366					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.R398C(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGAAGGAGCGGAGGGAGCGC	0.602													A	118105354	G	A	118105354	3	1	204	1	0	0	0	0	1	0	0	0	8641	1116	39	1	1820	1	KSR2	12	118105354	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	4367613	118105354	15746541	38	14061											
GCN1L1	10985	broad.mit.edu	37	chr12	120628101	120628101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatgaaaaataaatacCttttccagcaacacacttcc	15	11	5	10	0	0	1	0	1	0	0	2	2	2	2	3	1	3	1	3	1	6	5			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr12:120628101C>T	uc001txo.3	-	2	134	c.121_splice	c.e2+1	p.D41_splice		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	41					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAATAAATACCTTTTCCAGCA	0.393													T	120628101	C	T	120628101	3	4	204	1	0	0	0	0	1	0	0	0	6353	695	24	2	8122	2	GCN1L1	12	120628101	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	2522747	120628101	13223794	39	14062											
NEK3	4752	broad.mit.edu	37	chr13	52728302	52728302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagaattctgtgtattagAgaaagactagaaaaacattt	17	12	7	5	0	1	4	0	0	1	4	1	5	1	4	1	0	1	1	1	0	8	6			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr13:52728302A>G	uc001vgh.3	-	1	1418	c.187T>C	c.(187-189)Tct>Cct	p.S63P	NEK3_uc001vgi.3_Missense_Mutation_p.S42P|NEK3_uc010tgx.2_Non-coding_Transcript|NEK3_uc010tgy.2_Missense_Mutation_p.S42P	NM_001146099	NP_001139571	P51956	NEK3_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 3 (NEK3), transcript variant 3, mRNA.	42	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTGTATTAGAGAAAGACTAG	0.284													G	52728302	A	G	52728302	3	3	204	1	0	0	0	0	1	0	0	0	10401	304	11	3	1452	3	NEK3	13	52728302	Missense_Mutation	SNP	A	TCGA-28-2509-01A-01D-1494-08		52728302	62441576	40	14063											
RIN3	79890	broad.mit.edu	37	chr14	93022210	93022210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccggggcatcagcatcctGgagaagctcatcaaaacatg	12	6	11	12	2	3	1	3	0	0	1	4	2	4	1	2	3	3	3	2	3	3	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr14:93022210G>A	uc001yap.3	+	1	311	c.159G>A	c.(157-159)ctG>ctA	p.L53L	RIN3_uc010auk.3_5'UTR	NM_024832	NP_079108	Q8TB24	RIN3_HUMAN	Homo sapiens Ras and Rab interactor 3 (RIN3), mRNA.	53					endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				TCAGCATCCTGGAGAAGCTCA	0.612													A	93022210	G	A	93022210	2	1	204	1	0	0	0	0	0	0	0	1	13464	1335	47	2		2	RIN3	14	93022210	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		93022210	14327330	41	14064											
TJP1	7082	broad.mit.edu	37	chr15	30053400	30053400	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaggctctgaccgctGgtcaggagatcgtgaccggc	9	7	14	11	3	3	4	2	2	1	2	4	5	3	4	2	4	0	2	2	4	1	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:30053400G>A	uc001zcr.3	-	7	1427	c.952C>T	c.(952-954)Cag>Tag	p.Q318*	TJP1_uc010azl.3_Nonsense_Mutation_p.Q306*|TJP1_uc001zcq.3_Nonsense_Mutation_p.Q322*|TJP1_uc001zcs.3_Nonsense_Mutation_p.Q318*	NM_003257	NP_003248	Q07157	ZO1_HUMAN	Homo sapiens tight junction protein 1 (zona occludens 1) (TJP1), transcript variant 1, mRNA.	318					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCTGACCGCTGGTCAGGAGAT	0.488													A	30053400	G	A	30053400	4	1	204	1	0	0	0	0	0	1	0	0	16029	1357	47	2	4378	2	TJP1	15	30053400	Nonsense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		30053400	72477992	42	14065											
MAPKBP1	23005	broad.mit.edu	37	chr15	42067489	42067489	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatggctgtggaagggTcaaccattaccagccggatc	11	9	11	10	1	2	0	2	0	0	0	3	2	2	2	3	4	3	1	3	4	4	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:42067489T>G	uc001zok.4	+	1	302	c.16T>G	c.(16-18)Tca>Gca	p.S6A	MAPKBP1_uc010bci.3_Missense_Mutation_p.S6A|MAPKBP1_uc010udb.2_5'UTR|MAPKBP1_uc001zoj.4_Missense_Mutation_p.S6A|MAPKBP1_uc010bcj.3_5'UTR|MAPKBP1_uc010bck.3_5'UTR	NM_001128608	NP_001122080	O60336	MABP1_HUMAN	Homo sapiens mitogen-activated protein kinase binding protein 1 (MAPKBP1), transcript variant 2, mRNA.	6										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		TGTGGAAGGGTCAACCATTAC	0.557													G	42067489	T	G	42067489	3	3	204	1	0	0	0	0	1	0	0	0	9367	1667	58	5	18	5	MAPKBP1	15	42067489	Missense_Mutation	SNP	T	TCGA-28-2509-01A-01D-1494-08	12014089	42067489	60463903	43	14066											
SEMA7A	8482	broad.mit.edu	37	chr15	74708161	74708161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggttggagaaaacacCatagaccctggtgtccctcc	10	7	11	13	0	0	2	0	0	0	2	2	3	2	2	5	4	1	1	5	4	3	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:74708161C>T	uc002axv.3	-	7	1007	c.967G>A	c.(967-969)Ggt>Agt	p.G323S	SEMA7A_uc010ulk.2_Missense_Mutation_p.G158S|SEMA7A_uc010ull.2_Missense_Mutation_p.G309S	NM_003612	NP_001139502	O75326	SEM7A_HUMAN	Homo sapiens semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group) (SEMA7A), transcript variant 1, mRNA.	323	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GAGAAAACACCATAGACCCTG	0.612													T	74708161	C	T	74708161	3	4	204	1	0	0	0	0	1	0	0	0	14136	594	21	2	1061	2	SEMA7A	15	74708161	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	32640672	74708161	27823231	44	14067											
FBXO22	26263	broad.mit.edu	37	chr15	76196838	76196838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttgcgtcctcagcgtgtgCcgcttatggagggagtgtgt	4	13	16	8	3	1	0	1	0	0	0	2	2	2	2	2	2	3	2	2	2	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr15:76196838C>T	uc002bbk.3	+	1	252	c.147C>T	c.(145-147)tgC>tgT	p.C49C	FBXO22_uc002bbj.2_Silent_p.C49C|FBXO22_uc002bbl.3_Intron	NM_147188	NP_671717	Q8NEZ5	FBX22_HUMAN	Homo sapiens F-box protein 22 (FBXO22), transcript variant 1, mRNA.	49	F-box.				ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGCGTGTGCCGCTTATGGA	0.622													T	76196838	C	T	76196838	2	4	204	1	0	0	0	0	0	0	0	1	5783	747	26	2		2	FBXO22	15	76196838	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	1488677	76196838	26334554	45	14068											
ZNF174	7727	broad.mit.edu	37	chr16	3458790	3458790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggaaactgctttgggcgGcagtcaaccctgaagctgca	9	9	13	10	1	1	1	1	1	0	0	1	2	1	2	1	3	5	4	1	3	3	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:3458790G>A	uc002cvc.3	+	2	1910	c.1095G>A	c.(1093-1095)cgG>cgA	p.R365R		NM_003450	NP_003441	Q15697	ZN174_HUMAN	Homo sapiens zinc finger protein 174 (ZNF174), transcript variant 1, mRNA.	365					negative regulation of transcription from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|cytoplasm|nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|prostate(2)|urinary_tract(2)	12						GCTTTGGGCGGCAGTCAACCC	0.542													A	3458790	G	A	3458790	2	1	204	1	0	0	0	0	0	0	0	1	17845	1190	42	2		2	ZNF174	16	3458790	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		3458790	86895963	46	14069											
DNAH3	55567	broad.mit.edu	37	chr16	21080833	21080833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctctgaactgaagattGgttccaggtacagccaggtg	9	11	12	9	0	1	3	0	2	1	1	3	3	3	3	3	3	3	2	3	3	3	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:21080833G>A	uc010vbe.2	-	22	3284	c.3284C>T	c.(3283-3285)cCa>cTa	p.P1095L		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1095	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACTGAAGATTGGTTCCAGGTA	0.438													A	21080833	G	A	21080833	3	1	204	1	0	0	0	0	1	0	0	0	4642	1348	47	2	9225	2	DNAH3	16	21080833	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	17622043	21080833	69273920	47	14070											
SRCAP	10847	broad.mit.edu	37	chr16	30734359	30734359	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggatggactgactcCtgttcctccattggccccag	5	10	10	16	1	0	1	0	1	0	0	4	3	3	3	6	3	0	1	6	3	0	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30734359C>G	uc002dze.1	+	23	4353	c.3968C>G	c.(3967-3969)cCt>cGt	p.P1323R	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Missense_Mutation_p.P1118R	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	1323	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGACTGACTCCTGTTCCTCCA	0.587													G	30734359	C	G	30734359	3	3	204	1	0	0	0	0	1	0	0	0	15231	681	24	4	4054	4	SRCAP	16	30734359	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	9653526	30734359	59620394	48	14071											
SRCAP	10847	broad.mit.edu	37	chr16	30749342	30749342	+	Frame_Shift_Del	DEL	G	G	-																															tcccaccctcagcagcatctGatgagccacttcaggagcca																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:30749342delG	uc002dze.1	+	33	8366	c.7981delG	c.(7981-7983)gatfs	p.D2661fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.D2456fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2661	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGCAGCATCTGATGAGCCACT	0.602													-	30749342	G	-	30749342	7	5	204	1	0	1	0	1	0	0	0	0	15231	1290	45	0	8107	0	SRCAP	16	30749342	Frame_Shift_Del	DEL	G	TCGA-28-2509-01A-01D-1494-08	14983	30749342	59605411	49	14072											
RLTPR	146206	broad.mit.edu	37	chr16	67683468	67683468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatcagcggcaacgccatggGggacgcgggcgccaagttgc	8	5	16	12	5	1	0	1	0	0	0	1	1	1	1	2	4	3	2	2	4	3	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr16:67683468G>A	uc002etn.3	+	19	1985	c.1865G>A	c.(1864-1866)gGg>gAg	p.G622E	RLTPR_uc010cel.1_Missense_Mutation_p.G615E|RLTPR_uc010vjr.2_Missense_Mutation_p.G586E	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	622	Tropomodulin-like.									breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACGCCATGGGGGACGCGGGC	0.701													A	67683468	G	A	67683468	3	1	204	1	0	0	0	0	1	0	0	0	13485	1232	43	2	1943	2	RLTPR	16	67683468	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	36934126	67683468	22671285	50	14073											
TP53	7157	broad.mit.edu	37	chr17	7577556	7577556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggttcatgccgcccatgCaggaactgttacacatgtag	9	10	10	12	2	1	0	1	0	0	0	2	1	2	1	3	2	4	4	3	2	3	3	rs121912655		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:7577556C>T	uc002gim.2	-	6	919	c.725G>A	c.(724-726)tGc>tAc	p.C242Y	TP53_uc002gig.1_Missense_Mutation_p.C242Y|TP53_uc002gih.3_Missense_Mutation_p.C242Y|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C110Y|TP53_uc010cnf.1_Missense_Mutation_p.C110Y|TP53_uc002gii.1_Missense_Mutation_p.C110Y|TP53_uc010cni.1_Missense_Mutation_p.C242Y|TP53_uc010cnh.1_Missense_Mutation_p.C242Y|TP53_uc002gij.2_Missense_Mutation_p.C242Y|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C149Y|TP53_uc002gio.2_Missense_Mutation_p.C110Y|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	242	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		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 a familial cancer not matching LFS; 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.C242F(156)|p.C242Y(85)|p.S241F(78)|p.C242S(43)|p.S241C(24)|p.C242fs*5(16)|p.C242R(12)|p.S241A(9)|p.S241fs*6(9)|p.0?(8)|p.S241Y(8)|p.C242W(7)|p.N239_C242delNSSC(6)|p.C149F(6)|p.S241T(6)|p.S241del(5)|p.?(5)|p.C242*(3)|p.S241S(3)|p.S241P(3)|p.C242fs*20(2)|p.C242G(2)|p.Y236_M243delYMCNSSCM(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.C242C(2)|p.C242fs*98(2)|p.C149Y(2)|p.H233_C242del10(2)|p.S241fs*22(2)|p.S241_G245delSCMGG(2)|p.C242fs*23(1)|p.N239fs*4(1)|p.S241_C242insX(1)|p.C238fs*21(1)|p.S241fs*7(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N239_C242del(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)		GCCGCCCATGCAGGAACTGTT	0.577		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)			T	7577556	C	T	7577556	3	4	204	1	0	0	0	0	1	0	0	0	16482	710	25	2	565	2	TP53	17	7577556	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08		7577556	73617654	51	14074											
MYH8	4626	broad.mit.edu	37	chr17	10304743	10304743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggtttcatccaggcctGccatctcttctgtaagattt	8	15	7	11	0	3	1	1	0	2	1	5	1	4	1	3	2	1	2	3	2	2	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr17:10304743G>A	uc002gmm.2	-	23	3052	c.2957C>T	c.(2956-2958)gCa>gTa	p.A986V	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	986					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATCCAGGCCTGCCATCTCTTC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10304743	G	A	10304743	3	1	204	1	0	0	0	0	1	0	0	0	10117	1319	46	2	2924	2	MYH8	17	10304743	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	2727187	10304743	70890467	52	14075											
CNDP1	84735	broad.mit.edu	37	chr18	72226676	72226676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagcgcctgggggcccGtgtggcctcggtggacatgg	3	7	19	12	3	0	0	0	0	0	0	1	1	0	1	3	6	2	2	3	6	0	0			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr18:72226676G>A	uc002llq.3	+	2	483	c.272G>A	c.(271-273)cGt>cAt	p.R91H	BC047599_uc002llr.3_Non-coding_Transcript	NM_032649	NP_116038	Q96KN2	CNDP1_HUMAN	Homo sapiens carnosine dipeptidase 1 (metallopeptidase M20 family) (CNDP1), mRNA.	91					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGGGGCCCGTGTGGCCTCG	0.632													A	72226676	G	A	72226676	3	1	204	1	0	0	0	0	1	0	0	0	3624	1145	40	1	282	1	CNDP1	18	72226676	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		72226676	5850572	53	14076											
MUC16	94025	broad.mit.edu	37	chr19	9090864	9090864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcattgtgctggctctGgcctcgggcaccccaggaga	5	9	15	12	1	1	1	0	0	1	1	2	2	1	1	3	5	1	4	3	5	0	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:9090864G>A	uc002mkp.3	-	0	1155	c.951C>T	c.(949-951)gcC>gcT	p.A317A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	317	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						TGCTGGCTCTGGCCTCGGGCA	0.498													A	9090864	G	A	9090864	2	1	204	1	0	0	0	0	0	0	0	1	10049	1335	47	2		2	MUC16	19	9090864	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08		9090864	50038119	54	14077											
MAST1	22983	broad.mit.edu	37	chr19	12979571	12979571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggcaccagcagatgtcagGggatgtggcagtagagaaga	12	5	17	7	1	1	3	1	0	0	3	1	5	1	4	1	4	1	4	1	4	2	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:12979571G>A	uc002mvm.3	+	20	2809	c.2681G>A	c.(2680-2682)gGg>gAg	p.G894E		NM_014975	NP_055790	Q9Y2H9	MAST1_HUMAN	Homo sapiens microtubule associated serine/threonine kinase 1 (MAST1), mRNA.	894					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.G894E(3)		NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CAGATGTCAGGGGATGTGGCA	0.577													A	12979571	G	A	12979571	3	1	204	1	0	0	0	0	1	0	0	0	9399	1232	43	2	2763	2	MAST1	19	12979571	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	3888707	12979571	46149412	55	14078											
ZNF626	199777	broad.mit.edu	37	chr19	20808078	20808078	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgccacattcttcacatTtgtagggtttccctccagta	7	16	6	12	0	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	2	7			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:20808078T>A	uc002npb.1	-	3	755	c.605A>T	c.(604-606)aAa>aTa	p.K202I	ZNF626_uc002npc.1_Missense_Mutation_p.K126I	NM_001076675	NP_001070143	Q68DY1	ZN626_HUMAN	Homo sapiens zinc finger protein 626 (ZNF626), transcript variant 1, mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						TTCTTCACATTTGTAGGGTTT	0.368													A	20808078	T	A	20808078	3	1	204	1	0	0	0	0	1	0	0	0	18151	1841	64	5	985	5	ZNF626	19	20808078	Missense_Mutation	SNP	T	TCGA-28-2509-01A-01D-1494-08	7828507	20808078	38320905	56	14079											
FKRP	79147	broad.mit.edu	37	chr19	47258817	47258817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctaggaattcccgggcccGggggccccgtcgtgcctctg	3	7	15	16	4	1	0	0	0	1	0	3	1	2	1	6	4	1	0	6	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:47258817G>A	uc002pfn.2	+	3	407	c.110G>A	c.(109-111)cGg>cAg	p.R37Q	FKRP_uc002pfp.2_Missense_Mutation_p.R37Q|FKRP_uc021uwj.1_Missense_Mutation_p.R37Q	NM_024301	NP_077277	Q9H9S5	FKRP_HUMAN	Homo sapiens fukutin related protein (FKRP), transcript variant 1, mRNA.	37						extracellular space|Golgi apparatus|rough endoplasmic reticulum|sarcolemma	transferase activity			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		TCCCGGGCCCGGGGGCCCCGT	0.677													A	47258817	G	A	47258817	3	1	204	1	0	0	0	0	1	0	0	0	5966	1116	39	1	112	1	FKRP	19	47258817	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	26450739	47258817	11870166	57	14080											
LILRB3	11025	broad.mit.edu	37	chr19	54724484	54724484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	7	7	15	12	3	1	1	1	1	0	0	2	2	2	2	3	4	1	4	3	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54724484G>A	uc010erh.1	-	5	1296	c.1172C>T	c.(1171-1173)gCg>gTg	p.A391V	LILRB3_uc002qee.1_Missense_Mutation_p.A391V|LILRB3_uc002qef.1_Missense_Mutation_p.A391V|LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Missense_Mutation_p.A391V|LILRB3_uc002qeh.1_Missense_Mutation_p.A391V|LILRB3_uc002qeg.1_Non-coding_Transcript|LILRB3_uc002qei.1_Missense_Mutation_p.A391V|LILRB3_uc002qek.1_Intron|LILRB3_uc002qej.1_Non-coding_Transcript|LILRB3_uc002qel.1_Intron|LILRB3_uc002qem.1_Intron|LILRB3_uc002qen.1_Intron|LILRB3_uc002qeo.1_Missense_Mutation_p.A391V|LILRB3_uc002qep.1_Missense_Mutation_p.A391V|LILRB3_uc002qeq.1_Missense_Mutation_p.A391V|LILRB3_uc010yep.1_Intron|LILRB3_uc010yeq.1_Intron	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.	391	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.607													A	54724484	G	A	54724484	3	1	204	1	0	0	0	0	1	0	0	0	8852	1087	38	1	758	1	LILRB3	19	54724484	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	7465667	54724484	4404499	58	14081											
LILRB3	79168	broad.mit.edu	37	chr19	54744236	54744236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagcacctgtaggtccccGcgtgggctgaggtcacagga	7	7	15	12	3	1	1	1	1	0	0	2	2	2	2	3	4	1	4	3	4	2	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr19:54744236G>A	uc010erh.1	-						LILRB3_uc002qer.1_Intron|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.A391V|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.A391V|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Intron|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Intron|LILRB3_uc010yep.1_Missense_Mutation_p.A391V|LILRB3_uc010yeq.1_Missense_Mutation_p.A391V|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.A391V|LILRB3_uc002qev.1_Missense_Mutation_p.A252V	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.A391V(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTAGGTCCCCGCGTGGGCTGA	0.592													A	54744236	G	A	54744236	3	1	204	1	0	0	0	0	1	0	0	0	8852	1087	38	1		1	LILRB3	19	54744236	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	19752	54744236	4384747	59	14082											
ERG	2078	broad.mit.edu	37	chr21	39764312	39764312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacctttcgactggggcGtggggtggccgtgaccggtc	3	10	17	11	4	0	1	0	1	0	0	2	2	0	1	3	6	1	1	3	6	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chr21:39764312G>A	uc010gnw.3	-	8	1116	c.821C>T	c.(820-822)aCg>aTg	p.T274M	ERG_uc021wjd.1_Missense_Mutation_p.T274M|ERG_uc002yxa.3_Missense_Mutation_p.T267M|ERG_uc011aek.2_Missense_Mutation_p.T175M|ERG_uc010gnv.3_Missense_Mutation_p.T151M|ERG_uc010gnx.3_Missense_Mutation_p.T250M|ERG_uc011ael.2_Missense_Mutation_p.T274M|ERG_uc002yxb.3_Missense_Mutation_p.T250M|ERG_uc011aem.1_Missense_Mutation_p.T148M|ERG_uc010gny.1_Non-coding_Transcript	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	274					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.T274M(1)	EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CGACTGGGGCGTGGGGTGGCC	0.448			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39764312	G	A	39764312	3	1	204	1	0	0	0	0	1	0	0	0	5263	1145	40	1	655	1	ERG	21	39764312	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		39764312	8365583	60	14083											
HCCS	3052	broad.mit.edu	37	chrX	11139917	11139917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaaagtcgcttggtggcGttggacctcgtaaagcactg	10	10	13	8	3	0	1	0	1	0	0	2	2	0	2	1	3	1	4	1	3	4	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:11139917G>A	uc004cul.2	+	6	974	c.794G>A	c.(793-795)cGt>cAt	p.R265H	HCCS_uc004cuk.3_Missense_Mutation_p.R265H|HCCS_uc004cuj.3_Missense_Mutation_p.R265H	NM_001171991	NP_005324	P53701	CCHL_HUMAN	Homo sapiens holocytochrome c synthase (HCCS), transcript variant 3, mRNA.	265					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GCTTGGTGGCGTTGGACCTCG	0.428													A	11139917	G	A	11139917	3	1	204	1	0	0	0	0	1	0	0	0	7045	1145	40	1	816	1	HCCS	23	11139917	Missense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08		11139917	144130643	61	14084											
MAGEB6	158809	broad.mit.edu	37	chrX	26212632	26212632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggcagacatgctgaaGtgtgtccgcagagagtacaa	13	8	13	7	1	0	4	0	2	0	2	1	5	1	4	1	1	2	4	1	1	4	2	rs141448892		TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:26212632G>A	uc022buc.1	+	0	669	c.669G>A	c.(667-669)aaG>aaA	p.K223K	MAGEB6_uc004dbr.3_Silent_p.K223K	NM_173523	NP_775794	Q8N7X4	MAGB6_HUMAN	Homo sapiens melanoma antigen family B, 6 (MAGEB6), mRNA.	223	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ACATGCTGAAGTGTGTCCGCA	0.463													A	26212632	G	A	26212632	2	1	204	1	0	0	0	0	0	0	0	1	9254	1020	36	2		2	MAGEB6	23	26212632	Silent	SNP	G	TCGA-28-2509-01A-01D-1494-08	15072715	26212632	129057928	62	14085											
CXorf22	170063	broad.mit.edu	37	chrX	35985763	35985763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcgatccgtaatcccaCgggaaagtttgtggtcaaag	10	10	11	10	3	1	0	1	0	0	0	4	2	3	1	3	2	0	2	3	2	3	3			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:35985763C>T	uc004ddj.3	+	9	1694	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	543								p.P542P(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CGTAATCCCACGGGAAAGTTT	0.353													T	35985763	C	T	35985763	3	4	204	1	0	0	0	0	1	0	0	0	4135	536	19	1	1666	1	CXorf22	23	35985763	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	9773131	35985763	119284797	63	14086											
ZNF157	7712	broad.mit.edu	37	chrX	47272290	47272290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactcacacaggggagaaacCctatgaatgtagtgaatgtg	15	8	11	7	0	1	3	1	2	0	1	1	4	1	3	1	2	2	1	1	2	6	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:47272290C>T	uc004dhr.1	+	3	887	c.818C>T	c.(817-819)cCc>cTc	p.P273L		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	273					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GGGGAGAAACCCTATGAATGT	0.448													T	47272290	C	T	47272290	3	4	204	1	0	0	0	0	1	0	0	0	17838	623	22	2	832	2	ZNF157	23	47272290	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	11286527	47272290	107998270	64	14087											
MORF4L2	9643	broad.mit.edu	37	chrX	102931771	102931771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggggggttctctgcagagCgaccaccccatcttcctggg	7	8	13	13	1	2	1	0	0	2	1	4	2	3	1	4	4	2	2	4	4	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:102931771C>T	uc022cbw.1	-	0	185	c.185G>A	c.(184-186)cGc>cAc	p.R62H	MORF4L2_uc004ekw.3_Missense_Mutation_p.R62H|MORF4L2_uc004ela.3_Missense_Mutation_p.R62H|MORF4L2_uc004elb.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekx.3_Missense_Mutation_p.R62H|MORF4L2_uc004eky.3_Missense_Mutation_p.R62H|MORF4L2_uc010nos.3_Missense_Mutation_p.R62H|MORF4L2_uc004ekz.3_Missense_Mutation_p.R62H|MORF4L2_uc011mry.2_Missense_Mutation_p.R62H|MORF4L2_uc011mrz.2_Missense_Mutation_p.R62H|MORF4L2_uc004elc.3_Missense_Mutation_p.R62H|MORF4L2_uc004ele.3_Missense_Mutation_p.R62H|MORF4L2_uc004elf.3_Missense_Mutation_p.R62H|MORF4L2_uc011msa.2_Missense_Mutation_p.R62H|MORF4L2_uc011msb.2_Missense_Mutation_p.R62H|MORF4L2_uc011msc.2_Missense_Mutation_p.R62H|MORF4L2_uc011msd.2_Missense_Mutation_p.R62H|MORF4L2_uc004eld.3_Missense_Mutation_p.R62H	NM_012286	NP_036418	Q15014	MO4L2_HUMAN	Homo sapiens mortality factor 4 like 2 (MORF4L2), transcript variant 2, mRNA.	62					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						CTCTGCAGAGCGACCACCCCA	0.532													T	102931771	C	T	102931771	3	4	204	1	0	0	0	0	1	0	0	0	9783	768	27	1	685	1	MORF4L2	23	102931771	Missense_Mutation	SNP	C	TCGA-28-2509-01A-01D-1494-08	55659481	102931771	52338789	65	14088											
MID2	11043	broad.mit.edu	37	chrX	107084129	107084129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctttccagtgtcctacCtgcaggtatgttatctcgct	6	15	8	12	1	1	0	0	0	1	0	4	0	3	0	3	1	3	5	3	1	3	4			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107084129C>T	uc004enl.3	+	1	807	c.234C>T	c.(232-234)acC>acT	p.T78T	MID2_uc004enk.3_Silent_p.T78T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	78						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						AGTGTCCTACCTGCAGGTATG	0.512													T	107084129	C	T	107084129	2	4	204	1	0	0	0	0	0	0	0	1	9653	668	24	2		2	MID2	23	107084129	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	4152358	107084129	48186431	66	14089											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:107977802_107977803insC	uc004eoc.2	-	0	1805_1806	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977803	-	C	107977802	7	5	204	1	0	1	1	0	0	0	0	0	7900	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-28-2509-01A-01D-1494-08	893673	107977802	47292758	67	14090											
ELF4	2000	broad.mit.edu	37	chrX	129201458	129201458	+	Frame_Shift_Del	DEL	G	G	-																															agggccgagcccgaccccacGggggccactcctaggtggat																										TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:129201458delG	uc004evd.4	-	8	1615	c.1230delC	c.(1228-1230)cccfs	p.P410fs	ELF4_uc004eve.4_Frame_Shift_Del_p.P410fs	NM_001421	NP_001412	Q99607	ELF4_HUMAN	Homo sapiens E74-like factor 4 (ets domain transcription factor) (ELF4), transcript variant 1, mRNA.	410					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CCGACCCCACGGGGGCCACTC	0.592			T	ERG	AML								-	129201458	G	-	129201458	7	5	204	1	0	1	0	1	0	0	0	0	5097	1103	39	0	765	0	ELF4	23	129201458	Frame_Shift_Del	DEL	G	TCGA-28-2509-01A-01D-1494-08	21223656	129201458	26069102	68	14091											
IGSF1	3547	broad.mit.edu	37	chrX	130416634	130416634	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactccatccactggtcctcGacaccgtaggctcacattct	8	10	6	17	2	2	0	1	0	1	0	6	1	5	0	4	2	0	2	4	2	1	2			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:130416634G>A	uc004ewe.4	-	6	1313	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	IGSF1_uc004ewd.3_Nonsense_Mutation_p.R344*|IGSF1_uc022cdv.1_Nonsense_Mutation_p.R335*|IGSF1_uc004ewf.2_Nonsense_Mutation_p.R324*	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	344	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						ACTGGTCCTCGACACCGTAGG	0.488													A	130416634	G	A	130416634	4	1	204	1	0	0	0	0	0	1	0	0	7654	1066	37	1	3051	1	IGSF1	23	130416634	Nonsense_Mutation	SNP	G	TCGA-28-2509-01A-01D-1494-08	1215176	130416634	24853926	69	14092											
DDX26B	203522	broad.mit.edu	37	chrX	134655171	134655171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttgccccgcagctgcgCgcccgggacccggccagccg	3	4	13	21	6	0	0	0	0	0	0	1	1	1	1	7	2	4	2	7	2	0	1			TCGA-28-2509-01A-01D-1494-08	TCGA-28-2509-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4a62fe0-cee2-487a-9a8a-4cd98d8380df	36277954-db5f-4e92-b170-db6c5dd82efa	g.chrX:134655171C>T	uc004eyw.4	+	1	480	c.117C>T	c.(115-117)cgC>cgT	p.R39R		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	39	VWFA.									large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CGCAGCTGCGCGCCCGGGACC	0.632													T	134655171	C	T	134655171	2	4	204	1	0	0	0	0	0	0	0	1	4387	755	27	1		1	DDX26B	23	134655171	Silent	SNP	C	TCGA-28-2509-01A-01D-1494-08	4238537	134655171	20615389	70	14093											
FLG	2312	broad.mit.edu	37	chr1	152280065	152280065	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcctccagtgctggTcccggtccgtccatgggcgg	2	12	13	14	3	1	0	0	0	1	0	6	0	6	0	5	4	1	1	5	4	0	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:152280065T>C	uc001ezu.1	-	2	7333	c.7297A>G	c.(7297-7299)Acc>Gcc	p.T2433A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2433	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCAGTGCTGGTCCCGGTCCGT	0.597									Ichthyosis				C	152280065	T	C	152280065	3	2	205	1	0	0	0	0	1	0	0	0	5971	1667	58	3	4892	3	FLG	1	152280065	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08		152280065	96970556	1	14094											
HMCN1	83872	broad.mit.edu	37	chr1	186057366	186057366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgatgccactgggatcCcacctcccacgatagcatgg	9	8	10	14	1	0	1	0	1	0	0	2	3	2	2	4	2	2	1	4	2	1	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr1:186057366C>T	uc001grq.1	+	61	9764	c.9535C>T	c.(9535-9537)Cca>Tca	p.P3179S	MIR548F1_uc021pgf.1_Intron	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	3179	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CACTGGGATCCCACCTCCCAC	0.438													T	186057366	C	T	186057366	3	4	205	1	0	0	0	0	1	0	0	0	7275	623	22	2	9781	2	HMCN1	1	186057366	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	33777301	186057366	63193255	2	14095											
LRPPRC	10128	broad.mit.edu	37	chr2	44203309	44203309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggcatgccctgtcacaaggGcactgaatactgcctctgta	9	10	10	12	0	2	1	1	1	1	0	2	1	2	1	2	2	3	3	2	2	4	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:44203309G>A	uc002rtr.2	-	5	768	c.710C>T	c.(709-711)gCc>gTc	p.A237V	LRPPRC_uc010yob.1_Missense_Mutation_p.A137V|LRPPRC_uc010faw.1_Missense_Mutation_p.A211V	NM_133259	NP_573566	P42704	LPPRC_HUMAN	Homo sapiens leucine-rich PPR-motif containing (LRPPRC), mRNA.	237					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGTCACAAGGGCACTGAATAC	0.398													A	44203309	G	A	44203309	3	1	205	1	0	0	0	0	1	0	0	0	9035	1203	42	2	3606	2	LRPPRC	2	44203309	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		44203309	198996064	3	14096											
TTN	7273	broad.mit.edu	37	chr2	179633437	179633437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgatgttgcttttccAgccacaaaggtgtagtcagc	8	13	11	9	0	1	1	1	1	0	0	2	1	2	1	2	1	3	5	2	1	2	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr2:179633437A>G	uc021vsy.1	-	37	9351	c.9126T>C	c.(9124-9126)gcT>gcC	p.A3042A	TTN_uc021vsz.1_Silent_p.A2996A|TTN_uc021vta.1_Silent_p.A2996A|TTN_uc021vtb.1_Silent_p.A2996A|TTN_uc002unb.2_Silent_p.A3042A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3042	Ig-like 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGCTTTTCCAGCCACAAAGG	0.388													G	179633437	A	G	179633437	2	3	205	1	0	0	0	0	0	0	0	1	16837	175	7	3		3	TTN	2	179633437	Silent	SNP	A	TCGA-28-2510-01A-01D-1696-08	135430128	179633437	63565936	4	14097											
MUC4	4585	broad.mit.edu	37	chr3	195516052	195516052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggggtagctgtgcccGctgaggtggttcgtgaccct	6	9	17	9	2	0	2	0	2	0	0	1	3	0	3	2	5	2	4	2	5	2	2	rs142259629	by1000genomes	TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr3:195516052G>A	uc021xjp.1	-	1	2555	c.2399C>T	c.(2398-2400)gCg>gTg	p.A800V	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.A682V	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	805	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGCTGTGCCCGCTGAGGTGGT	0.587													A	195516052	G	A	195516052	3	1	205	1	0	0	0	0	1	0	0	0	10054	1087	38	1		1	MUC4	3	195516052	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		195516052	2506378	5	14098											
LIN54	132660	broad.mit.edu	37	chr4	83905798	83905798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgtggttactgtacactGtgattggttccgtggaaatg	8	15	13	5	1	0	1	0	1	0	0	1	2	1	2	1	3	2	3	1	3	4	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:83905798G>C	uc003hnx.3	-	1	578	c.200C>G	c.(199-201)aCa>aGa	p.T67R	LIN54_uc003hnz.3_Intron|LIN54_uc003hny.3_Intron|LIN54_uc010ijt.2_Missense_Mutation_p.T67R|LIN54_uc010iju.2_5'UTR|LIN54_uc010ijv.2_Intron	NM_194282	NP_919258	Q6MZP7	LIN54_HUMAN	Homo sapiens lin-54 homolog (C. elegans) (LIN54), transcript variant 1, mRNA.	67					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				ACTGTACACTGTGATTGGTTC	0.428													C	83905798	G	C	83905798	3	2	205	1	0	0	0	0	1	0	0	0	8870	1377	48	4	2097	4	LIN54	4	83905798	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		83905798	107248478	6	14099											
CLCN3	1182	broad.mit.edu	37	chr4	170610366	170610366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacatgggcagaattaatCataggtcaagcagaggtaag	18	7	11	5	0	2	2	2	0	0	2	2	2	2	2	0	3	2	3	0	3	7	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr4:170610366C>G	uc003ish.3	+	4	1150	c.591C>G	c.(589-591)atC>atG	p.I197M	CLCN3_uc003isi.3_Missense_Mutation_p.I197M|CLCN3_uc011cka.2_Missense_Mutation_p.I197M|CLCN3_uc011cjz.2_Missense_Mutation_p.I180M|CLCN3_uc003isj.2_Missense_Mutation_p.I170M	NM_173872	NP_776297	P51790	CLCN3_HUMAN	Homo sapiens chloride channel 3 (CLCN3), transcript variant e, mRNA.	197					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		CAGAATTAATCATAGGTCAAG	0.353													G	170610366	C	G	170610366	3	3	205	1	0	0	0	0	1	0	0	0	3495	816	29	4	605	4	CLCN3	4	170610366	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	86704568	170610366	20543910	7	14100											
LRRC16A	55604	broad.mit.edu	37	chr6	25606465	25606465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctggcagcacggcccGtcatcccgcagaaaccaaga	11	4	10	16	3	2	2	1	0	1	2	3	2	3	2	4	2	2	3	4	2	2	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr6:25606465G>A	uc011djw.2	+	34	4179	c.3811G>A	c.(3811-3813)Gtc>Atc	p.V1271I	LRRC16A_uc010jpy.3_Missense_Mutation_p.V1265I	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	1271					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						AGCACGGCCCGTCATCCCGCA	0.607													A	25606465	G	A	25606465	3	1	205	1	0	0	0	0	1	0	0	0	9041	1145	40	1	3949	1	LRRC16A	6	25606465	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		25606465	145508602	8	14101											
CHN2	1124	broad.mit.edu	37	chr7	29407575	29407575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacagcaagaggcacctcGtcccaagagaatcatttgtc	12	9	9	11	1	1	2	1	0	0	2	4	3	2	2	2	1	2	3	2	1	4	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:29407575G>A	uc003szz.3	+	2	553	c.116G>A	c.(115-117)cGt>cAt	p.R39H	CHN2_uc011jzs.2_Missense_Mutation_p.R114H|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Non-coding_Transcript|CHN2_uc010kvc.3_Intron|CHN2_uc011jzt.2_Missense_Mutation_p.R52H|CHN2_uc010kvd.3_Missense_Mutation_p.R39H|CHN2_uc011jzu.2_Missense_Mutation_p.R24H	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	p.R39C(1)		breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GAGGCACCTCGTCCCAAGAGA	0.413													A	29407575	G	A	29407575	3	1	205	1	0	0	0	0	1	0	0	0	3393	1145	40	1	126	1	CHN2	7	29407575	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		29407575	129731088	9	14102											
SAMD9	54809	broad.mit.edu	37	chr7	92731863	92731863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccgcctttttgacttcGgatacaatctttccttcact	8	16	4	13	2	2	1	1	1	1	0	4	2	3	2	3	1	2	0	3	1	3	7			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr7:92731863G>A	uc003umf.3	-	2	3818	c.3548C>T	c.(3547-3549)cCg>cTg	p.P1183L	SAMD9_uc003umg.3_Missense_Mutation_p.P1183L|SAMD9_uc022ahg.1_Missense_Mutation_p.P1183L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1183						cytoplasm		p.P1183Q(2)|p.P1183P(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTTGACTTCGGATACAATCT	0.378													A	92731863	G	A	92731863	3	1	205	1	0	0	0	0	1	0	0	0	13917	1116	39	1	1225	1	SAMD9	7	92731863	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	63324288	92731863	66406800	10	14103											
PTEN	5728	broad.mit.edu	37	chr10	89711900	89711900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactattcccagtcagaggcGctatgtgtattattatagct	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	3	1	1	7	7	rs121913294		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:89711900G>A	uc001kfb.3	+	5	1550	c.518G>A	c.(517-519)cGc>cAc	p.R173H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R173H(47)|p.R173C(37)|p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.R173P(2)|p.R172fs*5(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)|p.R173R(1)|p.R172R(1)|p.R172W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTCAGAGGCGCTATGTGTAT	0.348	R173H(RL952_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711900	G	A	89711900	3	1	205	1	0	0	0	0	1	0	0	0	12823	1087	38	1	540	1	PTEN	10	89711900	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		89711900	45822847	11	14104											
POLL	27343	broad.mit.edu	37	chr10	103342623	103342623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcagggaggcctggctgCggatgtcttccagacttcgg	5	11	15	10	2	2	1	1	0	1	1	4	3	3	3	2	5	1	1	2	5	0	3	rs146112511		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:103342623C>T	uc001ktg.1	-	5	1857	c.1091G>A	c.(1090-1092)cGc>cAc	p.R364H	DPCD_uc010qpz.2_Intron|POLL_uc001ktd.1_Missense_Mutation_p.R37H|POLL_uc001kte.1_Missense_Mutation_p.R56H|POLL_uc001kth.1_Missense_Mutation_p.R89H|POLL_uc001ktj.2_Missense_Mutation_p.R364H|POLL_uc010qqb.2_Non-coding_Transcript|POLL_uc001ktf.3_Missense_Mutation_p.R272H|POLL_uc001kti.2_Missense_Mutation_p.R364H|POLL_uc001ktl.3_Missense_Mutation_p.R276H|POLL_uc001ktm.3_Missense_Mutation_p.R364H|POLL_uc010qqc.2_Missense_Mutation_p.R56H|POLL_uc010qqa.2_Missense_Mutation_p.R103H	NM_013274	NP_037406	Q9UGP5	DPOLL_HUMAN	Homo sapiens polymerase (DNA directed), lambda (POLL), transcript variant 2, mRNA.	364					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGCCTGGCTGCGGATGTCTTC	0.552								DNA polymerases (catalytic subunits)					T	103342623	C	T	103342623	3	4	205	1	0	0	0	0	1	0	0	0	12282	768	27	1	648	1	POLL	10	103342623	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	13630723	103342623	32192124	12	14105											
C10orf96	374355	broad.mit.edu	37	chr10	118084588	118084588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcggaggagagtcgccGtttgatgcgagaaggtcggg	8	7	19	7	5	1	3	1	1	0	2	3	6	1	4	1	5	1	1	1	5	1	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr10:118084588G>A	uc001lck.3	+	1	316	c.65G>A	c.(64-66)cGt>cAt	p.R22H		NM_198515	NP_940917	P0C7W6	CJ096_HUMAN	Homo sapiens chromosome 10 open reading frame 96 (C10orf96), mRNA.	22								p.R22H(2)		kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)	18		Lung NSC(174;0.204)|all_lung(145;0.248)		all cancers(201;0.014)		GAGAGTCGCCGTTTGATGCGA	0.557													A	118084588	G	A	118084588	3	1	205	1	0	0	0	0	1	0	0	0	1638	1145	40	1	67	1	C10orf96	10	118084588	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	14741965	118084588	17450159	13	14106											
LPXN	9404	broad.mit.edu	37	chr11	58318640	58318640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccccaagcattgagtcCagggaggccttgtgatcctg	9	8	12	12	0	0	3	0	2	0	1	2	4	2	4	5	2	1	1	5	2	1	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:58318640C>T	uc001nmw.3	-	4	529	c.384G>A	c.(382-384)ctG>ctA	p.L128L	LPXN_uc009ymp.3_5'UTR|LPXN_uc010rkj.2_Silent_p.L133L|LPXN_uc010rkk.2_Silent_p.L108L|LPXN_uc010rkl.2_Non-coding_Transcript	NM_004811	NP_004802	O60711	LPXN_HUMAN	Homo sapiens leupaxin (LPXN), transcript variant 2, mRNA.	128					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GCATTGAGTCCAGGGAGGCCT	0.557													T	58318640	C	T	58318640	2	4	205	1	0	0	0	0	0	0	0	1	8999	581	21	2		2	LPXN	11	58318640	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08		58318640	76687876	14	14107											
AHNAK	79026	broad.mit.edu	37	chr11	62296010	62296010	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccagctcaacatcaggcAcctccacacccacactggga	12	5	6	18	0	2	0	2	0	0	0	4	1	4	1	4	2	2	2	4	2	1	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:62296010A>G	uc001ntl.3	-	4	6179	c.5879T>C	c.(5878-5880)gTg>gCg	p.V1960A	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1960					nervous system development	nucleus	protein binding	p.V1960A(2)		NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AACATCAGGCACCTCCACACC	0.507													G	62296010	A	G	62296010	3	3	205	1	0	0	0	0	1	0	0	0	414	159	6	3	11913	3	AHNAK	11	62296010	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08	3977370	62296010	72710506	15	14108											
C11orf65	160140	broad.mit.edu	37	chr11	108302505	108302505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatatttcactatctgacGtggttctccttgtcttctta	8	19	5	9	1	5	1	1	1	4	0	6	1	5	1	1	1	0	1	1	1	5	8			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:108302505G>A	uc001pkh.3	-	2	212	c.142C>T	c.(142-144)Cgt>Tgt	p.R48C	C11orf65_uc010rvx.1_Intron|C11orf65_uc009yxu.2_Non-coding_Transcript	NM_152587	NP_689800	Q8NCR3	CK065_HUMAN	Homo sapiens chromosome 11 open reading frame 65 (C11orf65), mRNA.	48										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACTATCTGACGTGGTTCTCCT	0.299													A	108302505	G	A	108302505	3	1	205	1	0	0	0	0	1	0	0	0	1667	1145	40	1	827	1	C11orf65	11	108302505	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	46006495	108302505	26704011	16	14109											
OR8D1	283159	broad.mit.edu	37	chr11	124180280	124180280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcattataaagcagtgggCtacagatggcaacatagcga	14	8	11	8	2	0	1	0	0	0	1	1	2	0	1	0	2	4	4	0	2	6	4			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr11:124180280C>T	uc010sag.2	-	0	383	c.383G>A	c.(382-384)aGc>aAc	p.S128N		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		AAGCAGTGGGCTACAGATGGC	0.498													T	124180280	C	T	124180280	3	4	205	1	0	0	0	0	1	0	0	0	11307	797	28	2	546	2	OR8D1	11	124180280	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	15877775	124180280	10826236	17	14110											
ZBTB39	9880	broad.mit.edu	37	chr12	57396726	57396726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgtgcagcggtacatgAgggcccccgagtgtgtcttt	7	10	14	10	2	1	2	0	1	1	1	1	3	1	2	2	2	3	2	2	2	1	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:57396726A>G	uc001sml.2	-	1	2129	c.1976T>C	c.(1975-1977)cTc>cCc	p.L659P	ZBTB39_uc021qzg.1_Missense_Mutation_p.L659P	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						GCGGTACATGAGGGCCCCCGA	0.557													G	57396726	A	G	57396726	3	3	205	1	0	0	0	0	1	0	0	0	17641	304	11	3	166	3	ZBTB39	12	57396726	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08		57396726	76455169	18	14111											
CUX2	23316	broad.mit.edu	37	chr12	111748209	111748209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggatggtggtgggggCggagcggcggggcccggggc	2	3	25	11	6	0	0	0	0	0	0	0	2	0	2	2	11	1	0	2	11	0	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:111748209C>T	uc001tsa.2	+	14	1777	c.1623C>T	c.(1621-1623)ggC>ggT	p.G541G		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	541						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GTGGTGGGGGCGGAGCGGCGG	0.721													T	111748209	C	T	111748209	2	4	205	1	0	0	0	0	0	0	0	1	4098	755	27	1		1	CUX2	12	111748209	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08	54351483	111748209	22103686	19	14112											
RIMBP2	23504	broad.mit.edu	37	chr12	130898833	130898833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagaagtctggagaaaggCggtctcgcccgtaatcgtct	10	9	12	10	4	3	2	0	0	3	2	5	3	3	2	1	3	0	1	1	3	4	2			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr12:130898833C>T	uc001uil.2	-	13	2705	c.2489G>A	c.(2488-2490)cGc>cAc	p.R830H		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	830						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGAGAAAGGCGGTCTCGCCC	0.572													T	130898833	C	T	130898833	3	4	205	1	0	0	0	0	1	0	0	0	13452	768	27	1	693	1	RIMBP2	12	130898833	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	19150624	130898833	2953062	20	14113											
NID2	22795	broad.mit.edu	37	chr14	52507433	52507433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgaaatttgctgagacGtaaggcacctggccttgaat	10	11	12	8	1	0	3	0	3	0	1	0	4	0	3	2	2	1	4	2	2	3	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:52507433G>A	uc001wzo.3	-	7	2196	c.1962C>T	c.(1960-1962)taC>taT	p.Y654Y	NID2_uc010tqs.2_Silent_p.Y654Y|NID2_uc010tqt.1_Silent_p.Y654Y|NID2_uc001wzp.3_Silent_p.Y654Y	NM_007361	NP_031387	Q14112	NID2_HUMAN	Homo sapiens nidogen 2 (osteonidogen) (NID2), mRNA.	654	Nidogen G2 beta-barrel.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					TTGCTGAGACGTAAGGCACCT	0.498													A	52507433	G	A	52507433	2	1	205	1	0	0	0	0	0	0	0	1	10491	1140	40	1		1	NID2	14	52507433	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		52507433	54842107	21	14114											
RBM25	58517	broad.mit.edu	37	chr14	73578303	73578303	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacctgtagatagtgtcttTaacaaatttgaggatgaaga	14	13	9	5	0	1	4	0	2	1	2	1	5	1	5	1	1	2	1	1	1	6	6			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr14:73578303T>C	uc010ttu.2	+	16	2361	c.2085T>C	c.(2083-2085)ttT>ttC	p.F695F	RBM25_uc001xno.3_Silent_p.F695F|RBM25_uc001xnp.3_Silent_p.F490F	NM_021239	NP_067062	P49756	RBM25_HUMAN	Homo sapiens RNA binding motif protein 25 (RBM25), mRNA.	695					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		ATAGTGTCTTTAACAAATTTG	0.403													C	73578303	T	C	73578303	2	2	205	1	0	0	0	0	0	0	0	1	13213	1751	61	3		3	RBM25	14	73578303	Silent	SNP	T	TCGA-28-2510-01A-01D-1696-08	21070870	73578303	33771237	22	14115											
ADAM10	102	broad.mit.edu	37	chr15	58904096	58904096	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagctgtgaagccattacAtattccttcccttgcacagt	10	12	8	11	0	0	2	0	1	0	1	2	3	2	2	3	0	4	2	3	0	3	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr15:58904096A>C	uc002afd.1	-	11	2050	c.1606T>G	c.(1606-1608)Tgt>Ggt	p.C536G	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Missense_Mutation_p.C235G|ADAM10_uc002afe.1_Intron|ADAM10_uc002aff.1_Missense_Mutation_p.C73G	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	536	Disintegrin.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		AAGCCATTACATATTCCTTCC	0.448													C	58904096	A	C	58904096	3	2	205	1	0	0	0	0	1	0	0	0	234	217	8	5	660	5	ADAM10	15	58904096	Missense_Mutation	SNP	A	TCGA-28-2510-01A-01D-1696-08		58904096	43627296	23	14116											
SNX29	92017	broad.mit.edu	37	chr16	12220512	12220512	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactgcgccaggccactgtGgccatgatgaacaggaagga	12	5	14	10	1	0	2	0	2	0	0	0	5	0	4	3	4	3	0	3	4	3	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:12220512G>A	uc002dby.4	+	11	1487	c.270G>A	c.(268-270)gtG>gtA	p.V90V	SNX29_uc010uyx.1_Silent_p.V117V	NM_032167	NP_115543	Q8TEQ0	SNX29_HUMAN	Homo sapiens sorting nexin 29 (SNX29), mRNA.	90					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						AGGCCACTGTGGCCATGATGA	0.488													A	12220512	G	A	12220512	2	1	205	1	0	0	0	0	0	0	0	1	14992	1335	47	2		2	SNX29	16	12220512	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		12220512	78134241	24	14117											
GTF3C1	2975	broad.mit.edu	37	chr16	27480738	27480738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgccgggggagtagtagcCcctcatcagcaggtagttgg	8	8	16	9	1	2	0	2	0	0	0	2	2	2	1	3	4	3	5	3	4	3	4			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr16:27480738C>T	uc002dov.2	-	31	4988	c.4948G>A	c.(4948-4950)Ggc>Agc	p.G1650S	GTF3C1_uc002dou.3_Missense_Mutation_p.G1650S	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1650						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GAGTAGTAGCCCCTCATCAGC	0.602													T	27480738	C	T	27480738	3	4	205	1	0	0	0	0	1	0	0	0	6927	623	22	2	1405	2	GTF3C1	16	27480738	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	15260226	27480738	62874015	25	14118											
CTAGE1	64693	broad.mit.edu	37	chr18	19997766	19997766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccataaggatgagaatcGggtctcataccttcagtcag	14	9	9	9	1	3	1	3	1	1	1	5	3	3	2	2	2	2	0	2	2	4	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:19997766G>A	uc002ktv.1	-	0	113	c.9C>T	c.(7-9)ccC>ccT	p.P3P		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	3						integral to membrane		p.P3P(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					GATGAGAATCGGGTCTCATAC	0.507													A	19997766	G	A	19997766	2	1	205	1	0	0	0	0	0	0	0	1	4025	1103	39	1		1	CTAGE1	18	19997766	Silent	SNP	G	TCGA-28-2510-01A-01D-1696-08		19997766	58079482	26	14119											
SERPINB3	6318	broad.mit.edu	37	chr18	61325755	61325755	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctcctaccattcgttTgactttccacccaggagtta	7	14	7	13	1	1	1	0	1	1	0	4	2	2	2	4	2	1	3	4	2	2	5			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr18:61325755T>A	uc002lji.3	-	4	605	c.461A>T	c.(460-462)cAa>cTa	p.Q154L	SERPINB3_uc002ljg.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqa.3_Missense_Mutation_p.Q154L|SERPINB3_uc010dqb.3_3'UTR	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	154					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACCATTCGTTTGACTTTCCAC	0.448													A	61325755	T	A	61325755	3	1	205	1	0	0	0	0	1	0	0	0	14195	1812	63	5	727	5	SERPINB3	18	61325755	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	41327989	61325755	16751493	27	14120											
OR7A5	26659	broad.mit.edu	37	chr19	14938368	14938368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtacttcccctgagctgatGagattgcatgtatggaagaa	11	12	11	7	0	0	4	0	3	0	2	1	6	1	5	2	1	3	4	2	1	4	4			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:14938368G>A	uc002mzw.3	-	0	909	c.686C>T	c.(685-687)tCa>tTa	p.S229L	OR7A5_uc010xoa.2_Missense_Mutation_p.S229L	NM_017506	NP_059976	Q15622	OR7A5_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily A, member 5 (OR7A5), mRNA.	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						CTGAGCTGATGAGATTGCATG	0.448													A	14938368	G	A	14938368	3	1	205	1	0	0	0	0	1	0	0	0	11292	1294	45	2	277	2	OR7A5	19	14938368	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08		14938368	44190615	28	14121											
HIPK4	147746	broad.mit.edu	37	chr19	40890043	40890043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcggatccgaagtcaaTcacctgtcgggggtggggaa	8	7	17	9	3	2	0	2	0	0	0	4	3	3	2	2	6	0	1	2	6	3	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:40890043T>C	uc002onp.3	-	1	754	c.469A>G	c.(469-471)Att>Gtt	p.I157V		NM_144685	NP_653286	Q8NE63	HIPK4_HUMAN	Homo sapiens homeodomain interacting protein kinase 4 (HIPK4), mRNA.	157	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CCGAAGTCAATCACCTGTCGG	0.627													C	40890043	T	C	40890043	3	2	205	1	0	0	0	0	1	0	0	0	7174	1435	50	3	1393	3	HIPK4	19	40890043	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	25951675	40890043	18238940	29	14122											
SPTBN4	57731	broad.mit.edu	37	chr19	41060491	41060491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggcgtggagaactacgagGaaagcatcgcgcagctgtcg	12	5	15	9	5	0	1	0	0	0	1	2	4	0	2	0	3	4	3	0	3	4	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:41060491G>A	uc002ony.3	+	23	5109	c.5023G>A	c.(5023-5025)Gaa>Aaa	p.E1675K	SPTBN4_uc002onx.3_Missense_Mutation_p.E1675K|SPTBN4_uc002onz.3_Missense_Mutation_p.E1675K|SPTBN4_uc010egx.3_Missense_Mutation_p.E418K|SPTBN4_uc010egy.1_Missense_Mutation_p.E351K|SPTBN4_uc002ooa.3_Missense_Mutation_p.E351K	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1675					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAACTACGAGGAAAGCATCGC	0.662													A	41060491	G	A	41060491	3	1	205	1	0	0	0	0	1	0	0	0	15217	1175	41	2	5113	2	SPTBN4	19	41060491	Missense_Mutation	SNP	G	TCGA-28-2510-01A-01D-1696-08	170448	41060491	18068492	30	14123											
KLK13	26085	broad.mit.edu	37	chr19	51563780	51563780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcactagtagggcagccTgccagggctgagagtggggg	7	7	18	9	0	0	1	0	1	0	1	0	2	0	1	2	4	3	4	2	4	2	3			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:51563780T>C	uc002pvn.3	-	1	192	c.149A>G	c.(148-150)cAg>cGg	p.Q50R	KLK13_uc002pvl.3_Non-coding_Transcript|KLK13_uc002pvm.3_Non-coding_Transcript|KLK13_uc002pvo.3_Non-coding_Transcript|KLK13_uc002pvp.3_Non-coding_Transcript|KLK13_uc010eon.3_Missense_Mutation_p.Q50R|KLK13_uc002pvq.3_Non-coding_Transcript|KLK13_uc010eoo.3_Intron|KLK13_uc002pvr.3_Missense_Mutation_p.Q50R	NM_015596	NP_056411	Q9UKR3	KLK13_HUMAN	Homo sapiens kallikrein-related peptidase 13 (KLK13), mRNA.	50	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TAGGGCAGCCTGCCAGGGCTG	0.602													C	51563780	T	C	51563780	3	2	205	1	0	0	0	0	1	0	0	0	8459	1580	55	3	700	3	KLK13	19	51563780	Missense_Mutation	SNP	T	TCGA-28-2510-01A-01D-1696-08	10503289	51563780	7565203	31	14124											
NLRP4	147945	broad.mit.edu	37	chr19	56372800	56372800	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctgctctgtgctcacCaccagcgggcacctcagaga	9	7	9	16	1	4	1	2	0	2	1	4	2	4	1	3	1	3	3	3	1	0	0			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chr19:56372800C>A	uc002qmd.4	+	3	2327	c.1905C>A	c.(1903-1905)acC>acA	p.T635T	NLRP4_uc002qmf.3_Silent_p.T560T|NLRP4_uc010etf.3_Silent_p.T466T	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	635							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTGTGCTCACCACCAGCGGGC	0.592													A	56372800	C	A	56372800	2	1	205	1	0	0	0	0	0	0	0	1	10555	581	21	4		4	NLRP4	19	56372800	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08	4809020	56372800	2756183	32	14125											
BEND2	139105	broad.mit.edu	37	chrX	18195711	18195711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaatgcagccattttgttCgggtcgagggattggctgtc	6	13	13	9	2	1	0	1	0	0	0	4	2	1	1	1	3	2	3	1	3	1	4	rs150572716		TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:18195711C>T	uc004cyj.4	-	9	1762	c.1608G>A	c.(1606-1608)ccG>ccA	p.P536P	BEND2_uc010nfb.2_Silent_p.P445P	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.	536	BEN 1.							p.P536Q(2)|p.P536P(2)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CCATTTTGTTCGGGTCGAGGG	0.388													T	18195711	C	T	18195711	2	4	205	1	0	0	0	0	0	0	0	1	1403	871	31	1		1	BEND2	23	18195711	Silent	SNP	C	TCGA-28-2510-01A-01D-1696-08		18195711	137074849	33	14126											
YY2	404281	broad.mit.edu	37	chrX	21875351	21875351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggtccaaaggagaacCtcccaaaacagtcccttgct	15	6	7	13	0	0	1	0	0	0	1	3	2	3	1	4	2	3	1	4	2	6	1			TCGA-28-2510-01A-01D-1696-08	TCGA-28-2510-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f2dc303-9859-4b63-8aab-c387da4b2cc1	1ac0c79f-5de9-404e-88fd-a3533e56ea51	g.chrX:21875351C>T	uc011mjp.2	+	0	1247	c.749C>T	c.(748-750)cCt>cTt	p.P250L	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	250	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						AAAGGAGAACCTCCCAAAACA	0.502													T	21875351	C	T	21875351	3	4	205	1	0	0	0	0	1	0	0	0	17611	681	24	2	751	2	YY2	23	21875351	Missense_Mutation	SNP	C	TCGA-28-2510-01A-01D-1696-08	3679640	21875351	133395209	34	14127											
ZFYVE9	9372	broad.mit.edu	37	chr1	52704095	52704095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaatccctccggtctGgtttacctttgcttctcaaa	8	14	7	12	1	2	2	1	1	2	1	5	2	4	2	3	2	2	2	3	2	4	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:52704095G>T	uc001cto.3	+	3	1178	c.1006G>T	c.(1006-1008)Ggt>Tgt	p.G336C	ZFYVE9_uc001ctn.3_Missense_Mutation_p.G336C|ZFYVE9_uc001ctp.3_Missense_Mutation_p.G336C	NM_004799	NP_004790	O95405	ZFYV9_HUMAN	Homo sapiens zinc finger, FYVE domain containing 9 (ZFYVE9), transcript variant 3, mRNA.	336					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						CCTCCGGTCTGGTTTACCTTT	0.468													T	52704095	G	T	52704095	3	4	206	1	0	0	0	0	1	0	0	0	17772	1348	47	4	1012	4	ZFYVE9	1	52704095	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		52704095	196546526	1	14128											
FLG	2312	broad.mit.edu	37	chr1	152275656	152275656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcgcggtgagaggatccGgggtgtctggagccatctct	6	10	16	9	3	2	1	0	1	2	1	5	4	3	3	2	5	1	1	2	5	1	1	rs147335121		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152275656G>A	uc001ezu.1	-	2	11742	c.11706C>T	c.(11704-11706)ccC>ccT	p.P3902P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3902	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.P3902L(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGAGGATCCGGGGTGTCTGG	0.517									Ichthyosis				A	152275656	G	A	152275656	2	1	206	1	0	0	0	0	0	0	0	1	5971	1103	39	1		1	FLG	1	152275656	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	99571561	152275656	96974965	2	14129											
FLG2	388698	broad.mit.edu	37	chr1	152329436	152329436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccacatgcatgacttcGcctcccactgtctcctgaac	10	10	5	16	1	1	2	0	2	1	0	4	2	2	2	4	0	3	1	4	0	2	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:152329436G>A	uc001ezw.4	-	2	899	c.826C>T	c.(826-828)Cga>Tga	p.R276*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	276	Ser-rich.		R -> Q (in dbSNP:rs2282303).				calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCATGACTTCGCCTCCCACTG	0.448													A	152329436	G	A	152329436	4	1	206	1	0	0	0	0	0	1	0	0	5972	1095	38	1	6353	1	FLG2	1	152329436	Nonsense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	53780	152329436	96921185	3	14130											
PFDN2	5202	broad.mit.edu	37	chr1	161072146	161072146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgttcctgccgaaggCggttgaagccagcaatcacc	8	8	11	14	3	1	1	1	1	0	0	3	2	2	1	4	2	3	4	4	2	3	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:161072146C>T	uc001fxu.3	-	1	145	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_012394	NP_036526	Q9UHV9	PFD2_HUMAN	Homo sapiens prefoldin subunit 2 (PFDN2), mRNA.	32				GFNRLR -> SFNAF (in Ref. 3; AAF36151).	'de novo' posttranslational protein folding	prefoldin complex	unfolded protein binding			lung(1)|skin(1)	2	all_cancers(52;1.84e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			CTGCCGAAGGCGGTTGAAGCC	0.527													T	161072146	C	T	161072146	3	4	206	1	0	0	0	0	1	0	0	0	11833	768	27	1	381	1	PFDN2	1	161072146	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	8742710	161072146	88178475	4	14131											
HMCN1	83872	broad.mit.edu	37	chr1	186114957	186114957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaggaggtgaaaagactcGgaagcggctgtgcgaccatc	11	6	16	8	3	0	2	0	1	0	1	2	6	0	5	1	5	2	1	1	5	3	0			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:186114957G>A	uc001grq.1	+	92	14739	c.14510G>A	c.(14509-14511)cGg>cAg	p.R4837Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.R406Q	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4837	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAAAAGACTCGGAAGCGGCTG	0.552													A	186114957	G	A	186114957	3	1	206	1	0	0	0	0	1	0	0	0	7275	1116	39	1	14880	1	HMCN1	1	186114957	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	25042811	186114957	63135664	5	14132											
CACNA1S	779	broad.mit.edu	37	chr1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagacatgaagtactggcGcaggcccagcccgtacatct	11	7	11	12	2	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	4	3	rs9333651		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr1:201047161G>A	uc001gvv.3	-	10	1692	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	489					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582													A	201047161	G	A	201047161	3	1	206	1	0	0	0	0	1	0	0	0	2573	1087	38	1	4292	1	CACNA1S	1	201047161	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	14932204	201047161	48203460	6	14133											
NRXN1	9378	broad.mit.edu	37	chr2	50765581	50765581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccggatatctttgctttgGccatcgatgaacaaatccct	9	13	8	11	2	1	1	0	1	1	0	3	3	2	2	3	2	3	1	3	2	3	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:50765581G>A	uc021vhh.1	-	8	2874	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G	NRXN1_uc002rxb.4_Silent_p.G323G|NRXN1_uc021vhg.1_Silent_p.G691G|NRXN1_uc021vhi.1_Silent_p.G687G|NRXN1_uc021vhj.1_Silent_p.G647G|NRXN1_uc002rxc.1_Non-coding_Transcript	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	651	Laminin G-like 3.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTTTGCTTTGGCCATCGATGA	0.502													A	50765581	G	A	50765581	2	1	206	1	0	0	0	0	0	0	0	1	10741	1190	42	2		2	NRXN1	2	50765581	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08		50765581	192433792	7	14134											
PSD4	23550	broad.mit.edu	37	chr2	113940279	113940279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgggtccatcaggaCgggctggagccttgccagga	7	6	18	10	1	1	0	1	0	0	0	2	4	2	4	3	6	3	2	3	6	0	1	rs147089589		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:113940279C>T	uc002tjc.3	+	1	429	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_uc002tjd.3_5'UTR|PSD4_uc002tje.3_Silent_p.D81D|PSD4_uc002tjf.3_5'Flank	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	82					regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622													T	113940279	C	T	113940279	2	4	206	1	0	0	0	0	0	0	0	1	12734	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	63174698	113940279	129259094	8	14135											
SLC4A10	57282	broad.mit.edu	37	chr2	162815003	162815003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgttcttttacagtttattCccatgccagtgctatatgga	8	18	7	8	0	1	0	0	0	1	0	2	1	2	1	2	1	3	3	2	1	4	9			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:162815003C>T	uc002ubx.4	+	20	2984	c.2800C>T	c.(2800-2802)Ccc>Tcc	p.P934S	SLC4A10_uc010zcs.2_Missense_Mutation_p.P915S|SLC4A10_uc002uby.4_Missense_Mutation_p.P904S	NM_001178015	NP_001171486	Q6U841	S4A10_HUMAN	Homo sapiens solute carrier family 4, sodium bicarbonate transporter, member 10 (SLC4A10), transcript variant 1, mRNA.	934					bicarbonate transport|chloride transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity|symporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(35)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACAGTTTATTCCCATGCCAGT	0.343													T	162815003	C	T	162815003	3	4	206	1	0	0	0	0	1	0	0	0	14745	855	30	2	2967	2	SLC4A10	2	162815003	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	48874724	162815003	80384370	9	14136											
TTN	7273	broad.mit.edu	37	chr2	179469893	179469893	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtttttcaattacagttTcatttttggaccattcaatc	9	19	6	7	0	3	0	3	0	0	0	4	1	3	1	1	2	1	2	1	2	3	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:179469893T>G	uc021vsy.1	-	228	46532	c.46307A>C	c.(46306-46308)gAa>gCa	p.E15436A	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E9131A|TTN_uc021vta.1_Missense_Mutation_p.E9064A|TTN_uc021vtb.1_Missense_Mutation_p.E8939A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16363	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTACAGTTTCATTTTTGGA	0.468													G	179469893	T	G	179469893	3	3	206	1	0	0	0	0	1	0	0	0	16837	1783	62	5	54014	5	TTN	2	179469893	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	16654890	179469893	63729480	10	14137											
ZNF804A	91752	broad.mit.edu	37	chr2	185802437	185802437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagattctatcgaaaaCgtagacaacattcacattct	17	10	5	9	2	3	3	1	0	2	3	4	4	3	3	0	0	2	1	0	0	6	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:185802437C>T	uc002uph.3	+	3	2908	c.2314C>T	c.(2314-2316)Cgt>Tgt	p.R772C		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	772						intracellular	zinc ion binding	p.R772C(2)|p.R772R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CTATCGAAAACGTAGACAACA	0.343													T	185802437	C	T	185802437	3	4	206	1	0	0	0	0	1	0	0	0	18269	536	19	1	2328	1	ZNF804A	2	185802437	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	6332544	185802437	57396936	11	14138											
NBEAL1	65065	broad.mit.edu	37	chr2	204000539	204000539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcataagcacagtagagctgTtttaatgaaagacaatgata	17	11	8	5	0	1	4	1	2	0	2	1	4	1	4	0	0	2	4	0	0	6	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr2:204000539T>C	uc002uzt.3	+	26	4199	c.3866T>C	c.(3865-3867)gTt>gCt	p.V1289A	NBEAL1_uc021vvj.1_5'UTR	NM_001114132	NP_001107604	Q6ZS30	NBEL1_HUMAN	Homo sapiens neurobeachin-like 1 (NBEAL1), mRNA.	1289							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						AGTAGAGCTGTTTTAATGAAA	0.343													C	204000539	T	C	204000539	3	2	206	1	0	0	0	0	1	0	0	0	10264	1725	60	3	3968	3	NBEAL1	2	204000539	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	18198102	204000539	39198834	12	14139											
CADM2	253559	broad.mit.edu	37	chr3	85932587	85932587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaaggcatatctcaccGttctgggtaagtgcaaggga	10	10	11	10	1	2	0	1	0	2	0	4	1	3	1	2	3	1	4	2	3	4	4	rs138383256		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:85932587G>A	uc003dql.3	+	2	364	c.364G>A	c.(364-366)Gtt>Att	p.V122I	CADM2_uc003dqj.3_Missense_Mutation_p.V120I|CADM2_uc003dqk.3_Missense_Mutation_p.V129I|CADM2_uc003dqm.2_Missense_Mutation_p.V12I|CADM2_uc021xay.1_Missense_Mutation_p.V12I|CADM2_uc021xaz.1_Missense_Mutation_p.V12I|CADM2_uc021xba.1_Missense_Mutation_p.V12I	NM_153184	NP_694854	Q8N3J6	CADM2_HUMAN	Homo sapiens cell adhesion molecule 2 (CADM2), transcript variant 3, mRNA.	120					adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		ATATCTCACCGTTCTGGGTAA	0.358													A	85932587	G	A	85932587	3	1	206	1	0	0	0	0	1	0	0	0	2593	1145	40	1	439	1	CADM2	3	85932587	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		85932587	112089843	13	14140											
MYLK	4638	broad.mit.edu	37	chr3	123333123	123333123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcccgtcctcatcgtaGtctatctggaagtggcggga	7	11	12	11	3	3	0	1	0	2	0	6	2	5	2	2	3	0	2	2	3	3	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:123333123G>A	uc003ego.3	-	33	5856	c.5574C>T	c.(5572-5574)gaC>gaT	p.D1858D	MYLK-AS1_uc003egk.3_Intron|MYLK_uc003egl.3_Silent_p.D98D|MYLK_uc003egm.3_Silent_p.D97D|MYLK_uc010hrr.3_Silent_p.D293D|MYLK_uc011bjv.2_Silent_p.D658D|MYLK_uc011bjw.2_Silent_p.D1857D|MYLK_uc003egp.3_Silent_p.D1789D|MYLK_uc003egq.3_Silent_p.D1807D|MYLK_uc003egr.3_Silent_p.D1738D|MYLK_uc003egs.3_Silent_p.D1682D	NM_053025	NP_444253	Q15746	MYLK_HUMAN	Homo sapiens myosin light chain kinase (MYLK), transcript variant 1, mRNA.	1858	Ig-like C2-type 9.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTCATCGTAGTCTATCTGGA	0.502													A	123333123	G	A	123333123	2	1	206	1	0	0	0	0	0	0	0	1	10132	1020	36	2		2	MYLK	3	123333123	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	37400536	123333123	74689307	14	14141											
ZBBX	79740	broad.mit.edu	37	chr3	167035369	167035369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggtagcattttaaaaaGttgctcttgtggagttctac	10	16	9	6	0	3	0	0	0	3	0	3	1	3	1	0	2	3	5	0	2	5	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:167035369G>C	uc011bpc.2	-	12	1337	c.1000C>G	c.(1000-1002)Ctt>Gtt	p.L334V	ZBBX_uc003feq.3_Missense_Mutation_p.L305V|ZBBX_uc003fep.3_Missense_Mutation_p.L334V	NM_001199201	NP_001186130	A8MT70	ZBBX_HUMAN	Homo sapiens zinc finger, B-box domain containing (ZBBX), transcript variant 1, mRNA.	334						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ATTTTAAAAAGTTGCTCTTGT	0.348													C	167035369	G	C	167035369	3	2	206	1	0	0	0	0	1	0	0	0	17618	1029	36	4	1438	4	ZBBX	3	167035369	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	43702246	167035369	30987061	15	14142											
ABCC5	10057	broad.mit.edu	37	chr3	183665139	183665139	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataagagatggcgagaccCgcataggctgggggaatctg	11	6	16	8	2	1	2	0	0	1	2	1	5	1	3	1	4	0	3	1	4	3	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:183665139C>A	uc003fmg.3	-	22	3552	c.3387G>T	c.(3385-3387)gcG>gcT	p.A1129A	ABCC5_uc011bqt.2_Silent_p.A657A|ABCC5_uc010hxl.3_Silent_p.A1086A	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	1129	ABC transmembrane type-1 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TGGCGAGACCCGCATAGGCTG	0.567													A	183665139	C	A	183665139	2	1	206	1	0	0	0	0	0	0	0	1	56	639	23	4		4	ABCC5	3	183665139	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	16629770	183665139	14357291	16	14143											
EIF4G1	1981	broad.mit.edu	37	chr3	184044341	184044341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcgattctaacaaccaGctctttgcacctggagggcg	9	10	9	13	2	2	0	0	0	2	0	4	2	3	1	3	2	4	2	3	2	2	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr3:184044341G>A	uc003fnp.3	+	21	3520	c.3249G>A	c.(3247-3249)caG>caA	p.Q1083Q	EIF4G1_uc010hxx.3_Silent_p.Q1090Q|EIF4G1_uc003fnt.3_Silent_p.Q794Q|EIF4G1_uc010hxy.3_Silent_p.Q1090Q|EIF4G1_uc003fnq.3_Silent_p.Q996Q|EIF4G1_uc003fnr.3_Silent_p.Q919Q|EIF4G1_uc003fns.3_Silent_p.Q1043Q|EIF4G1_uc003fnv.4_Silent_p.Q1084Q|EIF4G1_uc003fnw.3_Silent_p.Q1090Q|EIF4G1_uc003fnx.3_Silent_p.Q888Q	NM_198241	NP_937885	Q04637	IF4G1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4 gamma, 1 (EIF4G1), transcript variant 2, mRNA.	1083	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CTAACAACCAGCTCTTTGCAC	0.587													A	184044341	G	A	184044341	2	1	206	1	0	0	0	0	0	0	0	1	5077	962	34	2		2	EIF4G1	3	184044341	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	379202	184044341	13978089	17	14144											
CCDC96	257236	broad.mit.edu	37	chr4	7043696	7043696	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcgtcgccactccttctCcaccctggtgagcttctcct	5	11	8	17	2	2	1	0	1	2	0	6	2	3	1	5	1	2	1	5	1	1	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:7043696C>A	uc003gjv.2	-	0	1033	c.970G>T	c.(970-972)Gag>Tag	p.E324*	LOC100129931_uc021xld.1_Intron|TADA2B_uc003gjw.4_5'Flank|TADA2B_uc010idi.3_5'Flank	NM_153376	NP_699207	Q2M329	CCD96_HUMAN	Homo sapiens coiled-coil domain containing 96 (CCDC96), mRNA.	324										endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CACTCCTTCTCCACCCTGGTG	0.642													A	7043696	C	A	7043696	4	1	206	1	0	0	0	0	0	1	0	0	2902	864	30	4	701	4	CCDC96	4	7043696	Nonsense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		7043696	184110580	18	14145											
FGFBP1	9982	broad.mit.edu	37	chr4	15937922	15937922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggcaacttgtttccaatAgactctctcatccttgagct	8	13	7	13	1	2	2	1	1	1	1	5	2	4	2	3	1	2	3	3	1	3	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:15937922A>G	uc003gom.3	-	2	629	c.334T>C	c.(334-336)Tat>Cat	p.Y112H	FGFBP1_uc021xml.1_Missense_Mutation_p.Y112H	NM_005130	NP_005121	Q14512	FGFP1_HUMAN	Homo sapiens fibroblast growth factor binding protein 1 (FGFBP1), mRNA.	112					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						TGTTTCCAATAGACTCTCTCA	0.448													G	15937922	A	G	15937922	3	3	206	1	0	0	0	0	1	0	0	0	5909	420	15	3	374	3	FGFBP1	4	15937922	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	8894226	15937922	175216354	19	14146											
ARAP2	116984	broad.mit.edu	37	chr4	36168644	36168644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacattcataggaattatgGtaataccaagtccactctta	14	13	5	9	0	2	0	1	0	1	0	3	1	3	1	2	2	2	1	2	2	8	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:36168644G>C	uc003gsq.2	-	9	2221	c.1883C>G	c.(1882-1884)aCc>aGc	p.T628S	ARAP2_uc003gsr.1_Missense_Mutation_p.T628S	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	628	PH 2.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding	p.T628P(1)|p.T628T(1)		breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						AGGAATTATGGTAATACCAAG	0.294													C	36168644	G	C	36168644	3	2	206	1	0	0	0	0	1	0	0	0	842	1261	44	4	3327	4	ARAP2	4	36168644	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	20230722	36168644	154985632	20	14147											
RBM47	54502	broad.mit.edu	37	chr4	40440352	40440352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcatcttgtcggccgCgctggcgtagacgatcacgt	5	12	12	12	6	4	1	2	0	2	1	5	2	4	1	1	2	0	3	1	2	1	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:40440352C>T	uc003gvc.2	-	3	1269	c.559G>A	c.(559-561)Gcg>Acg	p.A187T	RBM47_uc003gvd.2_Missense_Mutation_p.A187T|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.A149T|RBM47_uc003gvg.1_Missense_Mutation_p.A187T	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	187	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						TTGTCGGCCGCGCTGGCGTAG	0.637													T	40440352	C	T	40440352	3	4	206	1	0	0	0	0	1	0	0	0	13229	768	27	1	1238	1	RBM47	4	40440352	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	4271708	40440352	150713924	21	14148											
TMEM150C	441027	broad.mit.edu	37	chr4	83417295	83417295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccactaatattcagccacgGgtttaaaaccttcggtttca	11	13	6	11	2	2	0	2	0	0	0	4	0	3	0	3	2	2	2	3	2	4	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:83417295G>T	uc011ccj.1	-	5	494	c.379C>A	c.(379-381)Ccg>Acg	p.P127T	TMEM150C_uc003hmy.1_Missense_Mutation_p.P97T	NM_001080506	NP_001073975	B9EJG8	T150C_HUMAN	Homo sapiens transmembrane protein 150C (TMEM150C), mRNA.	97						integral to membrane				ovary(1)	1						TTCAGCCACGGGTTTAAAACC	0.418													T	83417295	G	T	83417295	3	4	206	1	0	0	0	0	1	0	0	0	16169	1232	43	4	472	4	TMEM150C	4	83417295	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	42976943	83417295	107736981	22	14149											
ENPEP	2028	broad.mit.edu	37	chr4	111430927	111430927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctcatcaaaccaacagagGgtggccactgtggttgccca	10	7	11	13	0	2	1	2	0	0	1	2	1	2	1	4	3	3	1	4	3	2	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:111430927G>T	uc003iab.4	+	4	1500	c.1158G>T	c.(1156-1158)agG>agT	p.R386S		NM_001977	NP_001968	Q07075	AMPE_HUMAN	Homo sapiens glutamyl aminopeptidase (aminopeptidase A) (ENPEP), mRNA.	386					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ACCAACAGAGGGTGGCCACTG	0.453													T	111430927	G	T	111430927	3	4	206	1	0	0	0	0	1	0	0	0	5169	1223	43	4	1176	4	ENPEP	4	111430927	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	28013632	111430927	79723349	23	14150											
ALPK1	80216	broad.mit.edu	37	chr4	113353567	113353567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcctatctgaattccagtgGgagttcttgggtttcattgc	6	16	11	8	0	3	1	1	1	2	0	5	2	5	2	2	2	1	2	2	2	2	6			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:113353567G>A	uc003ian.4	+	10	3091	c.2864G>A	c.(2863-2865)gGg>gAg	p.G955E	ALPK1_uc003iap.4_Missense_Mutation_p.G955E|ALPK1_uc011cfx.2_Missense_Mutation_p.G877E|ALPK1_uc003iao.4_Intron|ALPK1_uc010imo.3_Missense_Mutation_p.G783E	NM_001102406	NP_079420	Q96QP1	ALPK1_HUMAN	Homo sapiens alpha-kinase 1 (ALPK1), transcript variant 2, mRNA.	955	Ser-rich.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATTCCAGTGGGAGTTCTTGG	0.512													A	113353567	G	A	113353567	3	1	206	1	0	0	0	0	1	0	0	0	544	1232	43	2	2898	2	ALPK1	4	113353567	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	1922640	113353567	77800709	24	14151											
PPID	5481	broad.mit.edu	37	chr4	159638287	159638287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagttggaactgttgtgatAaaaaactgagaaccgtttgt	13	12	12	4	1	0	2	0	2	0	1	0	5	0	4	1	2	3	3	1	2	5	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr4:159638287A>C	uc003iqc.3	-	3	511	c.399T>G	c.(397-399)ttT>ttG	p.F133L		NM_005038	NP_005029	Q08752	PPID_HUMAN	Homo sapiens peptidylprolyl isomerase D (PPID), mRNA.	133	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		CTGTTGTGATAAAAAACTGAG	0.403													C	159638287	A	C	159638287	3	2	206	1	0	0	0	0	1	0	0	0	12403	359	13	5	741	5	PPID	4	159638287	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	46284720	159638287	31515989	25	14152											
PIK3R1	5295	broad.mit.edu	37	chr5	67591085	67591085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctgagtatcgagaaattGacaaacgtatgaacagcatt	16	9	9	7	2	0	4	0	3	0	1	1	5	0	4	0	0	4	4	0	0	5	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:67591085G>C	uc003jva.3	+	12	2258	c.1678G>C	c.(1678-1680)Gac>Cac	p.D560H	PIK3R1_uc003jvc.3_Missense_Mutation_p.D260H|PIK3R1_uc003jvd.3_Missense_Mutation_p.D290H|PIK3R1_uc003jve.3_Missense_Mutation_p.D239H|PIK3R1_uc021xzn.1_Missense_Mutation_p.D197H|PIK3R1_uc011crb.2_Missense_Mutation_p.D230H	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560H(2)|p.D560_S565del(2)|p.R557_K561>Q(2)|p.D560Y(2)|p.0?(1)|p.?(1)|p.R557_D560del(1)|p.I559V(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCGAGAAATTGACAAACGTAT	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67591085	G	C	67591085	3	2	206	1	0	0	0	0	1	0	0	0	11995	1290	45	4	1854	4	PIK3R1	5	67591085	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		67591085	113324175	26	14153											
MCTP1	79772	broad.mit.edu	37	chr5	94288921	94288921	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacaaataaatggctcAcctttatatacaatggctcc	18	10	4	9	0	1	0	1	0	0	0	2	0	2	0	2	2	2	2	2	2	10	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:94288921A>G	uc003kkx.2	-	3	981	c.981_splice	c.e3+1	p.K327_splice	MCTP1_uc003kkv.2_Splice_Site_p.K106_splice|MCTP1_uc003kkw.2_Splice_Site_p.K106_splice|MCTP1_uc003kkz.2_Splice_Site	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	327	C2 1.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TAAATGGCTCACCTTTATATA	0.363													G	94288921	A	G	94288921	5	3	206	1	0	0	0	0	0	0	1	0	9475	173	6	3	2100	3	MCTP1	5	94288921	Splice_Site	SNP	A	TCGA-28-2513-01A-01D-1494-08	26697836	94288921	86626339	27	14154											
YIPF5	81555	broad.mit.edu	37	chr5	143540055	143540055	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatggctaatgcagaaataAatattttggaagcagaaaaa	19	9	8	5	0	0	2	0	0	0	2	0	3	0	3	1	2	2	3	1	2	8	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:143540055A>C	uc003lnk.4	-	5	1121	c.680T>G	c.(679-681)tTt>tGt	p.F227C	YIPF5_uc003lnl.4_Missense_Mutation_p.F227C|YIPF5_uc010jgl.3_Missense_Mutation_p.F173C	NM_001024947	NP_110426	Q969M3	YIPF5_HUMAN	Homo sapiens Yip1 domain family, member 5 (YIPF5), transcript variant 1, mRNA.	227					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi cisterna membrane|integral to membrane				large_intestine(2)|lung(5)|ovary(1)|skin(1)	9		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			TGCAGAAATAAATATTTTGGA	0.388													C	143540055	A	C	143540055	3	2	206	1	0	0	0	0	1	0	0	0	17583	14	1	5	97	5	YIPF5	5	143540055	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08	49251134	143540055	37375205	28	14155											
FAT2	2196	broad.mit.edu	37	chr5	150921921	150921921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttagagtcgccaccagttCgccaggctcactgttctcaa	8	11	8	14	2	2	1	2	0	1	1	5	1	2	1	3	1	0	3	3	1	2	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr5:150921921C>T	uc003lue.4	-	8	8780	c.8767G>A	c.(8767-8769)Gaa>Aaa	p.E2923K		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2923	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCCACCAGTTCGCCAGGCTCA	0.512													T	150921921	C	T	150921921	3	4	206	1	0	0	0	0	1	0	0	0	5739	893	31	1	4342	1	FAT2	5	150921921	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	7381866	150921921	29993339	29	14156											
BTN3A2	11118	broad.mit.edu	37	chr6	26373202	26373202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctgctgcttctcgccGgagccagttacttcttgtgg	3	15	11	12	2	3	0	0	0	3	0	4	1	3	1	2	2	5	4	2	2	1	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:26373202G>A	uc010jqh.2	+	5	1052	c.793G>A	c.(793-795)Gga>Aga	p.G265R	BTN3A2_uc003nhp.3_Missense_Mutation_p.G265R|BTN3A2_uc011dkd.2_Missense_Mutation_p.G223R|BTN3A2_uc011dke.2_Missense_Mutation_p.G242R|BTN3A2_uc010jqi.2_Missense_Mutation_p.G265R	NM_001197247	NP_001184176	P78410	BT3A2_HUMAN	Homo sapiens butyrophilin, subfamily 3, member A2 (BTN3A2), transcript variant 3, mRNA.	265						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						GCTTCTCGCCGGAGCCAGTTA	0.542													A	26373202	G	A	26373202	3	1	206	1	0	0	0	0	1	0	0	0	1573	1117	39	1	807	1	BTN3A2	6	26373202	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		26373202	144741865	30	14157											
PRSS35	167681	broad.mit.edu	37	chr6	84234218	84234218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcgggggtctatctgcGtctgaaagatccagacaaaa	11	9	12	9	3	3	3	0	1	3	2	5	3	4	3	1	3	1	1	1	3	4	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:84234218G>A	uc003pjz.3	+	1	1298	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PRSS35_uc010kbm.3_Missense_Mutation_p.R353H|PRSS35_uc021zce.1_Missense_Mutation_p.R353H	NM_153362	NP_699193	Q8N3Z0	PRS35_HUMAN	Homo sapiens protease, serine, 35 (PRSS35), transcript variant 2, mRNA.	353	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R353H(2)		breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTCTATCTGCGTCTGAAAGAT	0.512													A	84234218	G	A	84234218	3	1	206	1	0	0	0	0	1	0	0	0	12709	1145	40	1	1060	1	PRSS35	6	84234218	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	57861016	84234218	86880849	31	14158											
REPS1	85021	broad.mit.edu	37	chr6	139251126	139251126	+	Frame_Shift_Del	DEL	A	A	-																															ttgctaacctcactgctctgAttcagctcaggccatgtctg																										TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:139251126delA	uc003qii.3	-	8	1824	c.1245delT	c.(1243-1245)aatfs	p.N415fs	REPS1_uc003qig.4_Frame_Shift_Del_p.N415fs|REPS1_uc011edr.2_Frame_Shift_Del_p.N415fs|REPS1_uc003qij.3_Frame_Shift_Del_p.N415fs|REPS1_uc003qik.3_Frame_Shift_Del_p.N48fs	NM_031922	NP_114128	Q96D71	REPS1_HUMAN	Homo sapiens RALBP1 associated Eps domain containing 1 (REPS1), transcript variant 1, mRNA.	415						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		CACTGCTCTGATTCAGCTCAG	0.448													-	139251126	A	-	139251126	7	5	206	1	0	1	0	1	0	0	0	0	13316	330	12	0	1193	0	REPS1	6	139251126	Frame_Shift_Del	DEL	A	TCGA-28-2513-01A-01D-1494-08	55016908	139251126	31863941	32	14159											
OPRM1	4988	broad.mit.edu	37	chr6	154412222	154412222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggactgatgatcttgcGcctcaagagtgtccgcatgc	8	11	11	11	2	2	3	1	2	1	1	3	4	3	4	2	1	2	1	2	1	2	2	rs1799974		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr6:154412222G>A	uc011efe.2	+	4	1581	c.1058G>A	c.(1057-1059)cGc>cAc	p.R353H	OPRM1_uc011efd.2_Missense_Mutation_p.R160H|OPRM1_uc011efc.1_Missense_Mutation_p.R179H|OPRM1_uc003qpn.2_Missense_Mutation_p.R260H|OPRM1_uc003qpo.1_Missense_Mutation_p.R260H|OPRM1_uc011eff.1_Missense_Mutation_p.R260H|OPRM1_uc011efg.1_Missense_Mutation_p.R260H|OPRM1_uc011efi.2_Missense_Mutation_p.R260H|OPRM1_uc011efh.1_Missense_Mutation_p.R260H|OPRM1_uc003qpq.1_Missense_Mutation_p.R260H|OPRM1_uc003qpr.2_Missense_Mutation_p.R260H|OPRM1_uc003qpt.1_Missense_Mutation_p.R260H|OPRM1_uc003qpp.2_Non-coding_Transcript|OPRM1_uc003qps.2_Non-coding_Transcript|OPRM1_uc010kjg.2_Missense_Mutation_p.R160H|OPRM1_uc003qpu.2_Missense_Mutation_p.R160H	NM_001145279	NP_001138751	P35372	OPRM_HUMAN	Homo sapiens opioid receptor, mu 1 (OPRM1), transcript variant MOR-1H, mRNA.	260					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding	p.R260H(4)|p.R353H(2)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	ATGATCTTGCGCCTCAAGAGT	0.502													A	154412222	G	A	154412222	3	1	206	1	0	0	0	0	1	0	0	0	10963	1087	38	1	1123	1	OPRM1	6	154412222	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	15161096	154412222	16702845	33	14160											
RABGEF1	27342	broad.mit.edu	37	chr7	66240254	66240254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctttgccagcagtcagAgcagccaaggggcccaatcc	10	5	12	14	0	1	1	1	0	0	1	2	1	2	1	5	3	4	2	5	3	2	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:66240254A>T	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.S74C|RABGEF1_uc010lag.3_Missense_Mutation_p.S74C|RABGEF1_uc011kee.2_Missense_Mutation_p.S88C|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAGCAGTCAGAGCAGCCAAGG	0.473													T	66240254	A	T	66240254	3	4	206	1	0	0	0	0	1	0	0	0	13054	304	11	5	226	5	RABGEF1	7	66240254	Missense_Mutation	SNP	A	TCGA-28-2513-01A-01D-1494-08		66240254	92898409	34	14161											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519322	113519322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagttatccctcctaaagCgctgccttcactagtcaaat	11	11	5	14	1	2	0	2	0	0	0	4	0	4	0	4	0	2	2	4	0	5	4	rs144397367		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:113519322C>T	uc010ljy.1	-	3	1856	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	609					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CCTCCTAAAGCGCTGCCTTCA	0.403													T	113519322	C	T	113519322	3	4	206	1	0	0	0	0	1	0	0	0	12453	768	27	1	1547	1	PPP1R3A	7	113519322	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	47279068	113519322	45619341	35	14162											
ZNF786	136051	broad.mit.edu	37	chr7	148769373	148769373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatttctgggacctgggattCcttcttttagggtagattca	7	16	11	7	0	3	1	1	0	2	1	4	4	4	3	2	3	0	1	2	3	2	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:148769373C>T	uc003wfh.2	-	3	628	c.491G>A	c.(490-492)gGa>gAa	p.G164E	ZNF786_uc011kuk.1_Missense_Mutation_p.G127E|ZNF786_uc003wfi.2_Missense_Mutation_p.G78E	NM_152411	NP_689624	Q8N393	ZN786_HUMAN	Homo sapiens zinc finger protein 786 (ZNF786), mRNA.	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ACCTGGGATTCCTTCTTTTAG	0.617													T	148769373	C	T	148769373	3	4	206	1	0	0	0	0	1	0	0	0	18257	855	30	2	1861	2	ZNF786	7	148769373	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	35250051	148769373	10369290	36	14163											
KRBA1	84626	broad.mit.edu	37	chr7	149427522	149427522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtttgtgacgttagagagGgaccgccttcccagctgtaa	8	12	12	9	2	0	2	0	1	0	1	1	4	1	3	3	1	1	4	3	1	2	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr7:149427522G>A	uc003wfz.3	+	15	2406	c.2007G>A	c.(2005-2007)agG>agA	p.R669R	KRBA1_uc010lpj.3_Non-coding_Transcript|KRBA1_uc003wga.3_Non-coding_Transcript|KRBA1_uc003wgb.3_Silent_p.R277R	NM_032534	NP_115923	A5PL33	KRBA1_HUMAN	Homo sapiens KRAB-A domain containing 1 (KRBA1), mRNA.	670	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(17)|ovary(1)|prostate(1)	27	Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGTTAGAGAGGGACCGCCTTC	0.642													A	149427522	G	A	149427522	2	1	206	1	0	0	0	0	0	0	0	1	8497	1223	43	2		2	KRBA1	7	149427522	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	658149	149427522	9711141	37	14164											
NSMAF	8439	broad.mit.edu	37	chr8	59512581	59512581	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttccaagtttctgcaataCtacatatgaaaaaaaaattc	17	14	3	7	0	1	1	0	1	1	0	3	1	2	1	1	0	3	2	1	0	9	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:59512581C>T	uc011lee.2	-	17	1435	c.1374_splice	c.e17-1	p.S458_splice	NSMAF_uc003xtt.3_Splice_Site_p.S427_splice	NM_001144772	NP_001138244	Q92636	FAN_HUMAN	Homo sapiens neutral sphingomyelinase (N-SMase) activation associated factor (NSMAF), transcript variant 2, mRNA.	427	BEACH.				ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				TTCTGCAATACTACATATGAA	0.373													T	59512581	C	T	59512581	5	4	206	1	0	0	0	0	0	0	1	0	10750	579	20	2	1533	2	NSMAF	8	59512581	Splice_Site	SNP	C	TCGA-28-2513-01A-01D-1494-08		59512581	86851441	38	14165											
PKHD1L1	93035	broad.mit.edu	37	chr8	110497284	110497284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctaaggagggagaagaGattgtgataacaaccacaag	16	9	11	5	0	1	3	0	1	1	2	1	6	1	4	1	2	2	0	1	2	5	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:110497284G>A	uc003yne.3	+	57	9692	c.9588G>A	c.(9586-9588)gaG>gaA	p.E3196E		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	3196					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.E3195D(1)|p.G3196R(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGGGAGAAGAGATTGTGATAA	0.284										HNSCC(38;0.096)			A	110497284	G	A	110497284	2	1	206	1	0	0	0	0	0	0	0	1	12049	933	33	2		2	PKHD1L1	8	110497284	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	50984703	110497284	35866738	39	14166											
TRPS1	7227	broad.mit.edu	37	chr8	116426785	116426785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaatcagcttcactctgGaagtcattatgtacaaaggg	13	10	9	9	0	4	0	3	0	1	0	4	1	4	1	1	2	3	2	1	2	5	3	rs145393309		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:116426785G>T	uc003yny.3	-	6	3929	c.3351C>A	c.(3349-3351)ttC>ttA	p.F1117L	TRPS1_uc011lhy.2_Missense_Mutation_p.F1108L|TRPS1_uc003ynz.3_Missense_Mutation_p.F1104L|TRPS1_uc010mcy.3_Missense_Mutation_p.F1104L	NM_014112	NP_054831	Q9UHF7	TRPS1_HUMAN	Homo sapiens trichorhinophalangeal syndrome I (TRPS1), mRNA.	1104	Mediates interaction with RNF4 (By similarity).				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F1104F(1)		autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			CTTCACTCTGGAAGTCATTAT	0.473									Langer-Giedion syndrome				T	116426785	G	T	116426785	3	4	206	1	0	0	0	0	1	0	0	0	16694	1165	41	4	537	4	TRPS1	8	116426785	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5929501	116426785	29937237	40	14167											
COL14A1	7373	broad.mit.edu	37	chr8	121293282	121293282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactccataaagatgccctgGtttcccagccaaccaggtat	12	9	7	13	0	0	1	0	0	0	1	2	1	2	1	5	2	4	2	5	2	5	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr8:121293282G>A	uc003yox.3	+	30	4073	c.3808G>A	c.(3808-3810)Gtt>Att	p.V1270I	COL14A1_uc003yoz.3_Missense_Mutation_p.V235I	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	1270	Nonhelical region (NC4).|TSP N-terminal.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AGATGCCCTGGTTTCCCAGCC	0.378													A	121293282	G	A	121293282	3	1	206	1	0	0	0	0	1	0	0	0	3702	1261	44	2	3926	2	COL14A1	8	121293282	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	4866497	121293282	25070740	41	14168											
PTEN	5728	broad.mit.edu	37	chr10	89693009	89693009	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaggaccagagacaaaaagGtaagttattttttgatgttt	15	14	9	3	0	0	2	0	1	0	1	0	4	0	3	1	2	0	3	1	2	5	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:89693009G>T	uc001kfb.3	+	5	1524	c.492_splice	c.e5+1	p.K164_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	164	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.Y27fs*1(2)|p.K163_V166>NKGE(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACAAAAAGGTAAGTTATTT	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89693009	G	T	89693009	5	4	206	1	0	0	0	0	0	0	1	0	12823	1275	44	4	511	4	PTEN	10	89693009	Splice_Site	SNP	G	TCGA-28-2513-01A-01D-1494-08		89693009	45841738	42	14169											
PIK3AP1	118788	broad.mit.edu	37	chr10	98411291	98411291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaattccacaggattcGcggcattggacaataaattc	14	10	8	9	2	0	1	0	1	0	0	3	3	1	3	1	3	0	1	1	3	4	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr10:98411291G>A	uc001kmq.3	-	4	958	c.830C>T	c.(829-831)gCg>gTg	p.A277V	PIK3AP1_uc001kmp.3_Missense_Mutation_p.A99V	NM_152309	NP_689522	Q6ZUJ8	BCAP_HUMAN	Homo sapiens phosphoinositide-3-kinase adaptor protein 1 (PIK3AP1), mRNA.	277	DBB.					cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		CACAGGATTCGCGGCATTGGA	0.398													A	98411291	G	A	98411291	3	1	206	1	0	0	0	0	1	0	0	0	11985	1087	38	1	1639	1	PIK3AP1	10	98411291	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	8718282	98411291	37123456	43	14170											
CNGA4	1262	broad.mit.edu	37	chr11	6261464	6261464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaccgctttctccgcgCgccccgcctcttcgaggcct	3	9	10	19	6	2	1	0	1	2	0	4	2	2	1	6	1	1	2	6	1	1	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:6261464C>T	uc001mco.3	+	3	555	c.440C>T	c.(439-441)gCg>gTg	p.A147V	CNGA4_uc010raa.2_Intron|CNGA4_uc001mcn.3_Missense_Mutation_p.A107V	NM_001037329	NP_001032406	Q8IV77	CNGA4_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 4 (CNGA4), mRNA.	147					response to stimulus|sensory perception of smell		cAMP binding	p.A147V(2)		endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTCTCCGCGCGCCCCGCCTC	0.587													T	6261464	C	T	6261464	3	4	206	1	0	0	0	0	1	0	0	0	3630	768	27	1	454	1	CNGA4	11	6261464	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		6261464	128745052	44	14171											
OR5D14	219436	broad.mit.edu	37	chr11	55563770	55563770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacctgggcctcccacCtgacttctatcaccatcttc	6	12	4	19	0	4	1	1	1	3	0	7	1	5	1	6	1	0	0	6	1	1	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:55563770C>A	uc010rim.2	+	0	739	c.739C>A	c.(739-741)Ctg>Atg	p.L247M		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GGCCTCCCACCTGACTTCTAT	0.453													A	55563770	C	A	55563770	3	1	206	1	0	0	0	0	1	0	0	0	11231	680	24	4	741	4	OR5D14	11	55563770	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	49302306	55563770	79442746	45	14172											
DDI1	414301	broad.mit.edu	37	chr11	103908142	103908142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagagagcaagagaggCttcgtctctacacagccgac	11	7	11	12	2	1	3	0	1	1	2	3	6	1	3	2	1	3	2	2	1	2	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:103908142C>G	uc001phr.2	+	0	835	c.592C>G	c.(592-594)Ctt>Gtt	p.L198V	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	198					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GCAAGAGAGGCTTCGTCTCTA	0.522													G	103908142	C	G	103908142	3	3	206	1	0	0	0	0	1	0	0	0	4362	797	28	4	594	4	DDI1	11	103908142	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	48344372	103908142	31098374	46	14173											
OR8A1	390275	broad.mit.edu	37	chr11	124440263	124440263	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattacccctaagatgctggTgaactttgtgtcagagaaaa	13	11	9	8	0	1	3	1	1	0	2	1	4	1	3	2	1	3	1	2	1	5	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr11:124440263T>A	uc010san.2	+	0	299	c.299T>A	c.(298-300)gTg>gAg	p.V100E		NM_001005194	NP_001005194	Q8NGG7	OR8A1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily A, member 1 (OR8A1), mRNA.	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		AAGATGCTGGTGAACTTTGTG	0.463													A	124440263	T	A	124440263	3	1	206	1	0	0	0	0	1	0	0	0	11301	1696	59	5	301	5	OR8A1	11	124440263	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	20532121	124440263	10566253	47	14174											
ANKRD33	341405	broad.mit.edu	37	chr12	52284606	52284606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctgcaggctaccttgagCctcccctttgccccgtctcc	3	10	9	19	2	1	1	0	1	1	0	3	1	2	1	7	2	4	3	7	2	1	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:52284606C>A	uc001rzd.3	+	4	1054	c.876C>A	c.(874-876)agC>agA	p.S292R	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S167R|ANKRD33_uc001rze.3_Missense_Mutation_p.S188R|ANKRD33_uc001rzg.4_Missense_Mutation_p.S94R|ANKRD33_uc001rzi.4_Missense_Mutation_p.S167R	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	167										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		CTACCTTGAGCCTCCCCTTTG	0.667													A	52284606	C	A	52284606	3	1	206	1	0	0	0	0	1	0	0	0	661	738	26	4	924	4	ANKRD33	12	52284606	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		52284606	81567289	48	14175											
OR6C3	254786	broad.mit.edu	37	chr12	55726370	55726370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaaccagcaagtaaaaCaagccttcaaaaatgtggtc	18	7	8	8	0	1	1	1	1	0	1	2	2	1	1	2	1	4	2	2	1	7	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:55726370C>A	uc010spj.2	+	0	886	c.886C>A	c.(886-888)Caa>Aaa	p.Q296K		NM_054104	NP_473445	Q9NZP0	OR6C3_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 3 (OR6C3), mRNA.	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GCAAGTAAAACAAGCCTTCAA	0.338													A	55726370	C	A	55726370	3	1	206	1	0	0	0	0	1	0	0	0	11268	479	17	4	888	4	OR6C3	12	55726370	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	3441764	55726370	78125525	49	14176											
PTPRB	5787	broad.mit.edu	37	chr12	70933755	70933755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaagtggacagataatggtCgatccctacgaatgctcaga	13	10	10	8	2	1	2	1	0	0	2	3	5	2	3	1	2	2	1	1	2	4	3	rs139546127	by1000genomes	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:70933755C>T	uc001swb.4	-	21	5018	c.4988G>A	c.(4987-4989)cGa>cAa	p.R1663Q	PTPRB_uc010sto.2_Missense_Mutation_p.R1573Q|PTPRB_uc010stp.2_Missense_Mutation_p.R1573Q|PTPRB_uc001swc.4_Missense_Mutation_p.R1881Q|PTPRB_uc001swa.4_Missense_Mutation_p.R1793Q	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	1663					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			AGATAATGGTCGATCCCTACG	0.413													T	70933755	C	T	70933755	3	4	206	1	0	0	0	0	1	0	0	0	12884	884	31	1	1049	1	PTPRB	12	70933755	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	15207385	70933755	62918140	50	14177											
PTPRR	5801	broad.mit.edu	37	chr12	71286587	71286587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattgacaatctggtggcGtttgcttacttgagcttcgg	7	15	12	7	2	1	3	0	3	1	0	2	3	1	3	0	3	3	3	0	3	3	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:71286587G>A	uc001swi.2	-	1	643	c.229C>T	c.(229-231)Cgc>Tgc	p.R77C		NM_002849	NP_570897	Q15256	PTPRR_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, R (PTPRR), transcript variant 1, mRNA.	77					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.R77H(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		ATCTGGTGGCGTTTGCTTACT	0.448													A	71286587	G	A	71286587	3	1	206	1	0	0	0	0	1	0	0	0	12898	1145	40	1	1796	1	PTPRR	12	71286587	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	352832	71286587	62565308	51	14178											
C12orf63	374467	broad.mit.edu	37	chr12	97073486	97073486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccataacagatcaatccGacacagcagaaagttgcttt	16	9	6	10	1	1	2	1	0	0	2	2	3	2	2	2	0	4	3	2	0	4	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:97073486G>A	uc021rcc.1	+	6	1025	c.947G>A	c.(946-948)cGa>cAa	p.R316Q				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	316										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						AGATCAATCCGACACAGCAGA	0.453													A	97073486	G	A	97073486	3	1	206	1	0	0	0	0	1	0	0	0	1719	1058	37	1	969	1	C12orf63	12	97073486	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	25786899	97073486	36778409	52	14179											
OASL	8638	broad.mit.edu	37	chr12	121465457	121465457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacttggtccagtagataCagatgacttcatactccagg	12	11	9	9	0	1	3	1	1	0	2	3	3	3	3	2	2	3	2	2	2	4	6			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:121465457C>G	uc001tzj.1	-	3	827	c.821G>C	c.(820-822)tGt>tCt	p.C274S	OASL_uc001tzk.1_Intron	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	274					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCAGTAGATACAGATGACTTC	0.453													G	121465457	C	G	121465457	3	3	206	1	0	0	0	0	1	0	0	0	10878	478	17	4	735	4	OASL	12	121465457	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	24391971	121465457	12386438	53	14180											
EP400	57634	broad.mit.edu	37	chr12	132512816	132512816	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcggtgtggagagtctctGcaggatgttattgacaggta	8	13	15	5	1	1	2	0	1	1	1	3	4	1	3	0	4	1	3	0	4	2	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr12:132512816G>A	uc001ujn.3	+	26	5516	c.5364G>A	c.(5362-5364)ctG>ctA	p.L1788L	EP400_uc021rgq.1_Silent_p.L1787L|EP400_uc001ujm.3_Silent_p.L1707L	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1824					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		GAGAGTCTCTGCAGGATGTTA	0.557													A	132512816	G	A	132512816	2	1	206	1	0	0	0	0	0	0	0	1	5190	1306	46	2		2	EP400	12	132512816	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	11047359	132512816	1339079	54	14181											
KCNK10	54207	broad.mit.edu	37	chr14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccggccccttcaggcGcaggttgttgggccggttgt	2	11	15	13	3	1	0	1	0	0	0	2	0	2	0	4	5	1	5	4	5	0	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr14:88652226G>A	uc001xwm.3	-	6	1407	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	KCNK10_uc001xwn.3_Missense_Mutation_p.R429C|KCNK10_uc001xwo.3_Missense_Mutation_p.R424C	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity	p.P428P(1)|p.P428T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607													A	88652226	G	A	88652226	3	1	206	1	0	0	0	0	1	0	0	0	8117	1087	38	1	350	1	KCNK10	14	88652226	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		88652226	18697314	55	14182											
AXIN1	8312	broad.mit.edu	37	chr16	339599	339599	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcccaccttcctctgcGatcttgtcctggggaaagag	6	9	11	15	3	2	1	0	0	2	1	4	3	4	2	5	2	1	0	5	2	1	2	rs138816818		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:339599G>T	uc002cgp.2	-	9	2692	c.2303C>A	c.(2302-2304)tCg>tAg	p.S768*	LUC7L_uc021szo.1_Intron|AXIN1_uc002cgq.2_Nonsense_Mutation_p.S732*	NM_003502	NP_003493	O15169	AXIN1_HUMAN	Homo sapiens axin 1 (AXIN1), transcript variant 1, mRNA.	768	Interaction with PPP2CA.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CTTCCTCTGCGATCTTGTCCT	0.637													T	339599	G	T	339599	4	4	206	1	0	0	0	0	0	1	0	0	1241	1059	37	4	293	4	AXIN1	16	339599	Nonsense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		339599	90015154	56	14183											
ATF7IP2	80063	broad.mit.edu	37	chr16	10534246	10534246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatagcaaaacttcaaagacGtattaaaacagtattattat	20	12	4	5	1	1	1	1	0	0	1	1	1	1	1	0	0	3	3	0	0	11	7	rs141687995		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:10534246G>A	uc002czw.3	+	4	1280	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.R374H|ATF7IP2_uc002czv.3_Missense_Mutation_p.R374H|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CTTCAAAGACGTATTAAAACA	0.289													A	10534246	G	A	10534246	3	1	206	1	0	0	0	0	1	0	0	0	1093	1145	40	1	1135	1	ATF7IP2	16	10534246	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	10194647	10534246	79820507	57	14184											
ACSM5	54988	broad.mit.edu	37	chr16	20442617	20442617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgtatcagacccactcggCccttctgtttcttcaattgc	6	14	6	15	2	4	1	2	0	2	1	6	1	5	1	3	1	1	2	3	1	2	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:20442617C>T	uc002dhe.3	+	9	1429	c.1282C>T	c.(1282-1284)Ccc>Tcc	p.P428S		NM_017888	NP_060358	Q6NUN0	ACSM5_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 5 (ACSM5), mRNA.	428					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R427Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCCACTCGGCCCTTCTGTTT	0.488													T	20442617	C	T	20442617	3	4	206	1	0	0	0	0	1	0	0	0	187	739	26	2	1316	2	ACSM5	16	20442617	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	9908371	20442617	69912136	58	14185											
ITGAM	3684	broad.mit.edu	37	chr16	31308873	31308873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccctctgctccgtggaCgtggacagcaacggcagcac	7	6	12	16	3	1	0	0	0	1	0	3	2	3	2	3	3	4	4	3	3	1	0			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:31308873C>T	uc002ebr.3	+	12	1493	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	ITGAM_uc002ebq.3_Silent_p.D465D|ITGAM_uc010cam.1_Missense_Mutation_p.R69C|ITGAM_uc010can.3_5'UTR	NM_001145808	NP_001139280	P11215	ITAM_HUMAN	Homo sapiens integrin, alpha M (complement component 3 receptor 3 subunit) (ITGAM), transcript variant 1, mRNA.	465					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCTCCGTGGACGTGGACAGCA	0.627													T	31308873	C	T	31308873	2	4	206	1	0	0	0	0	0	0	0	1	7945	535	19	1		1	ITGAM	16	31308873	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	10866256	31308873	59045880	59	14186											
ZFHX3	463	broad.mit.edu	37	chr16	72821854	72821854	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctttctgcttctggctCttcagggagtttcggcagga	4	16	12	9	1	4	0	1	0	3	0	5	2	4	2	0	4	2	5	0	4	0	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr16:72821854C>A	uc002fck.3	-	9	10994	c.10321G>T	c.(10321-10323)Gag>Tag	p.E3441*	ZFHX3_uc002fcl.3_Nonsense_Mutation_p.E2527*	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	3441					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCTTCTGGCTCTTCAGGGAGT	0.557													A	72821854	C	A	72821854	4	1	206	1	0	0	0	0	0	1	0	0	17735	922	32	4	794	4	ZFHX3	16	72821854	Nonsense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	41512981	72821854	17532899	60	14187											
MYH1	4619	broad.mit.edu	37	chr17	10399320	10399320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaggagctcctgttctgCgattttcctgctcctctctg	4	15	8	14	1	2	0	0	0	2	0	7	2	6	1	4	1	3	3	4	1	0	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10399320C>T	uc002gmo.3	-	34	5210	c.5116G>A	c.(5116-5118)Gca>Aca	p.A1706T	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1706						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1705I(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTGTTCTGCGATTTTCCTG	0.532													T	10399320	C	T	10399320	3	4	206	1	0	0	0	0	1	0	0	0	10105	768	27	1	727	1	MYH1	17	10399320	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		10399320	70795890	61	14188											
MYH2	4620	broad.mit.edu	37	chr17	10427956	10427956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggtcctcctggctccGgagagcatcatccaggtgga	7	9	12	13	1	2	1	2	0	0	1	6	3	6	2	4	5	1	2	4	5	0	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:10427956G>A	uc010coi.3	-	34	5130	c.5002C>T	c.(5002-5004)Cgg>Tgg	p.R1668W	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Missense_Mutation_p.R1668W|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1668					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTGGCTCCGGAGAGCATCA	0.572													A	10427956	G	A	10427956	3	1	206	1	0	0	0	0	1	0	0	0	10111	1115	39	1	847	1	MYH2	17	10427956	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	28636	10427956	70767254	62	14189											
ACACA	31	broad.mit.edu	37	chr17	35615262	35615262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccatacatcatacggatatCcttgattctatatagaggaa	14	12	6	9	1	2	2	1	1	1	1	3	4	3	4	2	2	2	0	2	2	7	8			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:35615262C>G	uc002hnm.3	-	12	1614	c.1423G>C	c.(1423-1425)Gat>Cat	p.D475H	ACACA_uc002hnk.3_Missense_Mutation_p.D397H|ACACA_uc002hnl.3_Missense_Mutation_p.D417H|ACACA_uc002hnn.3_Missense_Mutation_p.D475H|ACACA_uc002hno.3_Missense_Mutation_p.D512H|ACACA_uc010cuz.3_Missense_Mutation_p.D475H	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	475	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACGGATATCCTTGATTCTA	0.413													G	35615262	C	G	35615262	3	3	206	1	0	0	0	0	1	0	0	0	106	855	30	4	5793	4	ACACA	17	35615262	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	25187306	35615262	45579948	63	14190											
MKS1	54903	broad.mit.edu	37	chr17	56294074	56294074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcacaatctcctcctcttCgtcttcctctgggcggtgtc	5	14	7	15	2	5	0	1	0	4	0	10	0	7	0	3	2	0	0	3	2	2	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:56294074C>T	uc002ivr.2	-	2	289	c.214G>A	c.(214-216)Gaa>Aaa	p.E72K	MKS1_uc010wnq.2_5'UTR|MKS1_uc021uam.1_Missense_Mutation_p.E62K	NM_017777	NP_060247	Q9NXB0	MKS1_HUMAN	Homo sapiens Meckel syndrome, type 1 (MKS1), transcript variant 1, mRNA.	72					cilium assembly	centrosome|cilium|microtubule basal body	protein binding	p.D71V(1)		endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TCCTCCTCTTCGTCTTCCTCT	0.483													T	56294074	C	T	56294074	3	4	206	1	0	0	0	0	1	0	0	0	9684	893	31	1	1529	1	MKS1	17	56294074	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	20678812	56294074	24901136	64	14191											
CDR2L	30850	broad.mit.edu	37	chr17	73000053	73000053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggaggccgtggacaagCggctggaacagagccagccc	10	3	16	12	3	0	1	0	0	0	1	0	4	0	4	3	5	4	1	3	5	2	0	rs144796205	byFrequency	TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73000053C>T	uc002jml.4	+	4	1694	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W		NM_014603	NP_055418	Q86X02	CDR2L_HUMAN	Homo sapiens cerebellar degeneration-related protein 2-like (CDR2L), mRNA.	428												all_lung(278;0.226)					CGTGGACAAGCGGCTGGAACA	0.612													T	73000053	C	T	73000053	3	4	206	1	0	0	0	0	1	0	0	0	3203	759	27	1	1300	1	CDR2L	17	73000053	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	16705979	73000053	8195157	65	14192											
ITGB4	3691	broad.mit.edu	37	chr17	73725429	73725429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagatgtggatgagttccGgaataaactgcagggagagc	14	7	15	5	1	0	4	0	1	0	3	1	7	1	6	1	3	3	2	1	3	4	2	rs144968507		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr17:73725429G>A	uc002jpg.3	+	6	837	c.650G>A	c.(649-651)cGg>cAg	p.R217Q	ITGB4_uc002jph.3_Missense_Mutation_p.R217Q|ITGB4_uc010dgo.3_Missense_Mutation_p.R217Q|ITGB4_uc002jpi.4_Missense_Mutation_p.R217Q|ITGB4_uc010dgp.1_Missense_Mutation_p.R217Q|ITGB4_uc002jpj.3_Missense_Mutation_p.R217Q|ITGB4_uc010wsh.1_5'Flank	NM_000213	NP_000204	P16144	ITB4_HUMAN	Homo sapiens integrin, beta 4 (ITGB4), transcript variant 1, mRNA.	217	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GATGAGTTCCGGAATAAACTG	0.602													A	73725429	G	A	73725429	3	1	206	1	0	0	0	0	1	0	0	0	7955	1116	39	1	672	1	ITGB4	17	73725429	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	725376	73725429	7469781	66	14193											
ROCK1	6093	broad.mit.edu	37	chr18	18547745	18547745	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagttccttctgatgttTcactaccatctggttgaatt	8	18	6	9	0	4	2	2	2	2	0	5	2	5	2	2	1	1	3	2	1	2	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:18547745T>A	uc002kte.3	-	25	4101	c.3160A>T	c.(3160-3162)Aaa>Taa	p.K1054*		NM_005406	NP_005397	Q13464	ROCK1_HUMAN	Homo sapiens Rho-associated, coiled-coil containing protein kinase 1 (ROCK1), mRNA.	1054					actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TTCTGATGTTTCACTACCATC	0.353													A	18547745	T	A	18547745	4	1	206	1	0	0	0	0	0	1	0	0	13608	1792	62	5	936	5	ROCK1	18	18547745	Nonsense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08		18547745	59529503	67	14194											
CTAGE1	64693	broad.mit.edu	37	chr18	19996798	19996798	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcttgttcagtctgaagaTttttaatatgctctgtaagc	10	17	8	6	0	3	2	1	1	2	1	3	2	3	2	0	0	3	4	0	0	4	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:19996798T>A	uc002ktv.1	-	0	1081	c.977A>T	c.(976-978)aAt>aTt	p.N326I		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	326						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					AGTCTGAAGATTTTTAATATG	0.308													A	19996798	T	A	19996798	3	1	206	1	0	0	0	0	1	0	0	0	4025	1493	52	5	1264	5	CTAGE1	18	19996798	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	1449053	19996798	58080450	68	14195											
DSC2	1824	broad.mit.edu	37	chr18	28673541	28673541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctaccaacaagtttctcGgcatctagtttggagggaac	10	11	9	11	1	3	0	0	0	3	0	4	2	3	2	2	3	3	3	2	3	5	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:28673541G>A	uc002kwl.4	-	1	589	c.135C>T	c.(133-135)gcC>gcT	p.A45A	DSC2_uc002kwk.4_Silent_p.A45A|DSC2_uc010xbo.1_Silent_p.A45A	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	45					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CAAGTTTCTCGGCATCTAGTT	0.338													A	28673541	G	A	28673541	2	1	206	1	0	0	0	0	0	0	0	1	4805	1103	39	1		1	DSC2	18	28673541	Silent	SNP	G	TCGA-28-2513-01A-01D-1494-08	8676743	28673541	49403707	69	14196											
SMAD4	4089	broad.mit.edu	37	chr18	48604808	48604808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgaagtacttcataccatgCcgattgcagacccacaacct	13	8	6	14	2	1	1	1	0	0	1	1	3	1	1	4	0	5	2	4	0	4	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:48604808C>T	uc010xdp.2	+	11	2168	c.1630C>T	c.(1630-1632)Ccg>Tcg	p.P544S	SMAD4_uc002lfb.4_Missense_Mutation_p.P389S	NM_005359	NP_005350	Q13485	SMAD4_HUMAN	Homo sapiens SMAD family member 4 (SMAD4), mRNA.	544	MH2.				BMP signaling pathway|negative regulation of cell growth|negative regulation of protein catabolic process|negative regulation of transcription, DNA-dependent|palate development|positive regulation of epithelial to mesenchymal transition|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|response to transforming growth factor beta stimulus|SMAD protein complex assembly|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	activin responsive factor complex|centrosome|cytosol	I-SMAD binding|protein homodimerization activity|R-SMAD binding|transcription regulatory region DNA binding|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity	p.0?(36)|p.?(2)|p.P544P(1)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		TCATACCATGCCGATTGCAGA	0.458													T	48604808	C	T	48604808	3	4	206	1	0	0	0	0	1	0	0	0	14854	739	26	2	1672	2	SMAD4	18	48604808	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	19931267	48604808	29472440	70	14197											
SERPINB3	6318	broad.mit.edu	37	chr18	61305084	61305084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattcgactactactacagCggtggcagctgcagcttcca	10	10	9	12	2	0	0	0	0	0	0	2	1	1	0	1	2	7	4	1	2	4	6			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr18:61305084C>T	uc002ljf.3	-	7	1128	c.1042G>A	c.(1042-1044)Gct>Act	p.A348T	SERPINB3_uc002lje.3_Missense_Mutation_p.A327T|SERPINB3_uc002ljg.3_Missense_Mutation_p.A348T	NM_002974	NP_002965	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 4 (SERPINB4), mRNA.	348					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity	p.A348T(1)|p.A348S(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						ACTACTACAGCGGTGGCAGCT	0.468													T	61305084	C	T	61305084	3	4	206	1	0	0	0	0	1	0	0	0	14195	768	27	1		1	SERPINB3	18	61305084	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	12700276	61305084	16772164	71	14198											
FBN3	84467	broad.mit.edu	37	chr19	8190851	8190851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacccagcagtgttgaCgcaacgcccgttgggacaga	12	5	13	11	3	0	3	0	1	0	2	0	5	0	4	2	1	2	4	2	1	2	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:8190851C>T	uc002mjf.3	-	20	2673	c.2656G>A	c.(2656-2658)Gtc>Atc	p.V886I		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	886	EGF-like 11; 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						GCAGTGTTGACGCAACGCCCG	0.637													T	8190851	C	T	8190851	3	4	206	1	0	0	0	0	1	0	0	0	5753	536	19	1	5945	1	FBN3	19	8190851	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		8190851	50938132	72	14199											
MUC16	94025	broad.mit.edu	37	chr19	9068764	9068764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgaggttgtcacaaGgagaggtgcctgagaagaga	14	6	17	4	0	1	5	1	2	0	4	1	8	1	5	1	4	1	1	1	4	3	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:9068764G>T	uc002mkp.3	-	2	18886	c.18682C>A	c.(18682-18684)Ctt>Att	p.L6228I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	6230	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						GTTGTCACAAGGAGAGGTGCC	0.478													T	9068764	G	T	9068764	3	4	206	1	0	0	0	0	1	0	0	0	10049	1000	35	4	25169	4	MUC16	19	9068764	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	877913	9068764	50060219	73	14200											
RTBDN	83546	broad.mit.edu	37	chr19	12939705	12939705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggctcggcactccacagcGttctggatggtttccagggc	6	9	14	12	2	1	0	0	0	1	0	4	1	3	1	2	5	1	4	2	5	0	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:12939705G>A	uc002mvj.3	-	3	646	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	RTBDN_uc002mvh.1_Missense_Mutation_p.R110C|RTBDN_uc002mvi.3_Missense_Mutation_p.R78C|RTBDN_uc021upo.1_Missense_Mutation_p.R88C	NM_031429	NP_001074466	Q9BSG5	RTBDN_HUMAN	Homo sapiens retbindin (RTBDN), transcript variant 2, mRNA.	78						extracellular region				kidney(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12						ACTCCACAGCGTTCTGGATGG	0.582													A	12939705	G	A	12939705	3	1	206	1	0	0	0	0	1	0	0	0	13808	1145	40	1	473	1	RTBDN	19	12939705	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	3870941	12939705	46189278	74	14201											
GTPBP3	84705	broad.mit.edu	37	chr19	17450006	17450006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcgggcagaggctcCgctcaggggtgcacgtagtg	6	5	18	12	4	1	1	1	0	0	1	2	1	2	1	2	5	1	5	2	5	1	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:17450006C>A	uc002ngg.4	+	4	930	c.835C>A	c.(835-837)Cgc>Agc	p.R279S	GTPBP3_uc010xpo.2_Missense_Mutation_p.R269S|GTPBP3_uc010ear.2_Non-coding_Transcript|GTPBP3_uc010eas.3_Missense_Mutation_p.R247S|GTPBP3_uc002ngh.4_Missense_Mutation_p.R247S	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	247					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						GCAGAGGCTCCGCTCAGGGGT	0.662													A	17450006	C	A	17450006	3	1	206	1	0	0	0	0	1	0	0	0	6936	652	23	4	853	4	GTPBP3	19	17450006	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	4510301	17450006	41678977	75	14202											
UBA52	7311	broad.mit.edu	37	chr19	18684123	18684123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaacatgcagatctttGtgaagaccctcactggcaaa	14	8	8	11	1	2	3	1	1	1	2	2	3	2	3	1	1	2	3	1	1	3	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:18684123G>C	uc002njr.3	+	1	127	c.13G>C	c.(13-15)Gtg>Ctg	p.V5L	UBA52_uc002njs.3_Missense_Mutation_p.V5L|UBA52_uc021uqs.1_5'Flank	NM_001033930	NP_003324	P62987	RL40_HUMAN	Homo sapiens ubiquitin A-52 residue ribosomal protein fusion product 1 (UBA52), transcript variant 1, mRNA.	5	Ubiquitin-like.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endocrine pancreas development|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|translational elongation|translational termination|viral transcription	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane|ribosome	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(2)	3						GCAGATCTTTGTGAAGACCCT	0.517													C	18684123	G	C	18684123	3	2	206	1	0	0	0	0	1	0	0	0	16933	1377	48	4	15	4	UBA52	19	18684123	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	1234117	18684123	40444860	76	14203											
ZNF787	126208	broad.mit.edu	37	chr19	56614551	56614551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtcctcagaatccagCggccccggagaccaggcttc	7	7	12	15	2	1	2	1	0	0	2	4	3	3	2	5	4	2	2	5	4	1	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:56614551C>T	uc010eth.1	-	1	155	c.36G>A	c.(34-36)ccG>ccA	p.P12P	ZNF787_uc002qml.1_Silent_p.P12P	NM_001002836	NP_001002836	Q6DD87	ZN787_HUMAN	Homo sapiens zinc finger protein 787 (ZNF787), mRNA.	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|lung(2)|pancreas(1)	5		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0559)		CAGAATCCAGCGGCCCCGGAG	0.632													T	56614551	C	T	56614551	2	4	206	1	0	0	0	0	0	0	0	1	18258	755	27	1		1	ZNF787	19	56614551	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	37930428	56614551	2514432	77	14204											
ZFP28	140612	broad.mit.edu	37	chr19	57060380	57060380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcaagaaggacttctgcGaaggaaagctatcccaggca	13	7	10	11	1	2	1	1	0	2	1	4	4	3	3	1	3	2	2	1	3	5	2	rs142184982		TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr19:57060380G>A	uc002qnj.3	+	4	648	c.577G>A	c.(577-579)Gaa>Aaa	p.E193K	ZFP28_uc002qni.3_Missense_Mutation_p.E193K|BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.C192C(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		GGACTTCTGCGAAGGAAAGCT	0.413													A	57060380	G	A	57060380	3	1	206	1	0	0	0	0	1	0	0	0	17743	1059	37	1	595	1	ZFP28	19	57060380	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	445829	57060380	2068603	78	14205											
MRPS26	64949	broad.mit.edu	37	chr20	3027090	3027090	+	Frame_Shift_Del	DEL	C	C	-																															ggttctggcggagcgcaaggCcctgaaggacgccgccgagc																										TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:3027090delC	uc002whs.3	+	1	324	c.284delC	c.(283-285)gccfs	p.A95fs		NM_030811	NP_110438	Q9BYN8	RT26_HUMAN	Homo sapiens mitochondrial ribosomal protein S26 (MRPS26), nuclear gene encoding mitochondrial protein, mRNA.	95					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						GAGCGCAAGGCCCTGAAGGAC	0.716													-	3027090	C	-	3027090	7	5	206	1	0	1	0	1	0	0	0	0	9913	739	26	0	290	0	MRPS26	20	3027090	Frame_Shift_Del	DEL	C	TCGA-28-2513-01A-01D-1494-08		3027090	59998430	79	14206											
SNX21	90203	broad.mit.edu	37	chr20	44469563	44469563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgtgctgccggagctgCggcgggcacagagcctcacc	5	7	14	15	4	2	1	1	0	1	1	3	2	2	2	3	3	5	3	3	3	0	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:44469563C>T	uc002xpv.1	+	3	822	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	SNX21_uc002xpt.1_3'UTR|SNX21_uc002xps.1_Intron|SNX21_uc002xpu.1_3'UTR|SNX21_uc002xpw.1_Missense_Mutation_p.R56W|SNX21_uc010zxd.1_3'UTR|SNX21_uc002xpy.1_Missense_Mutation_p.R56W|SNX21_uc002xpz.1_Missense_Mutation_p.R56W	NM_033421	NP_219489	Q969T3	SNX21_HUMAN	Homo sapiens sorting nexin family member 21 (SNX21), transcript variant 1, mRNA.	245	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				GCCGGAGCTGCGGCGGGCACA	0.662													T	44469563	C	T	44469563	3	4	206	1	0	0	0	0	1	0	0	0	14987	759	27	1	762	1	SNX21	20	44469563	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	41442473	44469563	18555957	80	14207											
PREX1	57580	broad.mit.edu	37	chr20	47276521	47276521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgaagctgtttgttcttgCtgctggtcccctccatctcc	3	15	9	14	1	2	0	0	0	2	0	5	1	4	0	4	1	4	5	4	1	1	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr20:47276521C>T	uc002xtw.1	-	15	1840	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N		NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	606					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TTTGTTCTTGCTGCTGGTCCC	0.562													T	47276521	C	T	47276521	3	4	206	1	0	0	0	0	1	0	0	0	12562	797	28	2	3262	2	PREX1	20	47276521	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	2806958	47276521	15748999	81	14208											
TBC1D22A	25771	broad.mit.edu	37	chr22	47507479	47507479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagatggaggaaggaaataCtagaagaaaaagattttcaa	20	8	11	2	0	1	4	1	1	0	4	1	8	1	7	0	3	1	0	0	3	8	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chr22:47507479C>G	uc003bib.3	+	11	1571	c.1405C>G	c.(1405-1407)Cta>Gta	p.L469V	TBC1D22A_uc010haf.3_Missense_Mutation_p.L439V|TBC1D22A_uc003bie.3_Missense_Mutation_p.L391V|TBC1D22A_uc010hag.3_Non-coding_Transcript|TBC1D22A_uc003bif.3_Missense_Mutation_p.L422V	NM_014346	NP_055161	Q8WUA7	TB22A_HUMAN	Homo sapiens TBC1 domain family, member 22A (TBC1D22A), mRNA.	469						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GAAGGAAATACTAGAAGAAAA	0.368													G	47507479	C	G	47507479	3	3	206	1	0	0	0	0	1	0	0	0	15708	564	20	4	1451	4	TBC1D22A	22	47507479	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08		47507479	3797087	82	14209											
POLA1	5422	broad.mit.edu	37	chrX	24766501	24766501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattttgcccagagagatccGgaaactggtagaacggagaa	14	7	12	8	2	0	4	0	0	0	4	1	7	1	5	2	3	3	1	2	3	4	3			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:24766501G>A	uc004dbl.3	+	24	2762	c.2747G>A	c.(2746-2748)cGg>cAg	p.R916Q		NM_016937	NP_058633	P09884	DPOLA_HUMAN	Homo sapiens polymerase (DNA directed), alpha 1, catalytic subunit (POLA1), mRNA.	916					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding	p.R916Q(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	AGAGAGATCCGGAAACTGGTA	0.398													A	24766501	G	A	24766501	3	1	206	1	0	0	0	0	1	0	0	0	12264	1116	39	1	2845	1	POLA1	23	24766501	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08		24766501	130504059	83	14210											
MAGEB2	4113	broad.mit.edu	37	chrX	30236767	30236767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcccgagatgagacccggGgtctcaatgttcctcaggtc	8	8	13	12	2	2	2	2	1	1	2	5	4	3	2	3	4	0	1	3	4	1	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30236767G>T	uc022buf.1	+	0	70	c.70G>T	c.(70-72)Ggt>Tgt	p.G24C	MAGEB2_uc004dbz.3_Missense_Mutation_p.G24C	NM_002364	NP_002355	O15479	MAGB2_HUMAN	Homo sapiens melanoma antigen family B, 2 (MAGEB2), mRNA.	24							protein binding	p.R23W(1)		breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGAGACCCGGGGTCTCAATGT	0.577													T	30236767	G	T	30236767	3	4	206	1	0	0	0	0	1	0	0	0	9251	1232	43	4	72	4	MAGEB2	23	30236767	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5470266	30236767	125033793	84	14211											
MAGEB4	4115	broad.mit.edu	37	chrX	30260607	30260607	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacgaagatgttagtgcagTtcctgctgtacaagtataaa	14	11	10	6	1	0	2	0	0	0	2	1	3	1	2	1	0	3	6	1	0	7	5			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:30260607T>A	uc004dcb.3	+	0	551	c.355T>A	c.(355-357)Ttc>Atc	p.F119I	MAGEB1_uc004dcc.3_5'Flank|MAGEB1_uc004dcd.3_5'Flank	NM_002367	NP_002358	O15481	MAGB4_HUMAN	Homo sapiens melanoma antigen family B, 4 (MAGEB4), mRNA.	119	MAGE.							p.Q118K(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						GTTAGTGCAGTTCCTGCTGTA	0.443													A	30260607	T	A	30260607	3	1	206	1	0	0	0	0	1	0	0	0	9253	1725	60	5	357	5	MAGEB4	23	30260607	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	23840	30260607	125009953	85	14212											
DMD	1756	broad.mit.edu	37	chrX	32404521	32404521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttctgtacaatctgaCgtccagtctttatcaccatt	8	17	5	11	1	4	1	1	1	3	0	5	1	5	1	2	0	1	2	2	0	3	6			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:32404521C>T	uc004dda.1	-	32	4824	c.4580G>A	c.(4579-4581)cGt>cAt	p.R1527H	DMD_uc004dcw.2_Missense_Mutation_p.R183H|DMD_uc004dcx.2_Missense_Mutation_p.R186H|DMD_uc004dcz.2_Missense_Mutation_p.R1404H|DMD_uc004dcy.1_Missense_Mutation_p.R1523H|DMD_uc004ddb.1_Missense_Mutation_p.R1519H|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1527	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACAATCTGACGTCCAGTCTT	0.353													T	32404521	C	T	32404521	3	4	206	1	0	0	0	0	1	0	0	0	4619	536	19	1	6813	1	DMD	23	32404521	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	2143914	32404521	122866039	86	14213											
OTC	5009	broad.mit.edu	37	chrX	38260580	38260580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgagtgtataaacaatcaGatttggacaccctggctaaa	14	10	8	9	1	1	1	1	0	0	1	2	3	1	2	1	2	1	2	1	2	6	4			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:38260580G>A	uc004def.4	+	4	653	c.439G>A	c.(439-441)Gat>Aat	p.D147N		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	147					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	TAAACAATCAGATTTGGACAC	0.408													A	38260580	G	A	38260580	3	1	206	1	0	0	0	0	1	0	0	0	11377	942	33	2	457	2	OTC	23	38260580	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	5856059	38260580	117009980	87	14214											
MAGED1	9500	broad.mit.edu	37	chrX	51640084	51640084	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcagaacctgcgccccTcgcctaacctgcgcccttct	6	8	8	19	3	1	1	0	0	1	1	2	1	1	1	6	1	4	1	6	1	2	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:51640084T>A	uc004dpn.3	+	4	1691	c.1501T>A	c.(1501-1503)Tcg>Acg	p.S501T	MAGED1_uc004dpm.3_Missense_Mutation_p.S445T|MAGED1_uc004dpo.3_Missense_Mutation_p.S445T	NM_001005333	NP_001005333	Q9Y5V3	MAGD1_HUMAN	Homo sapiens melanoma antigen family D, 1 (MAGED1), transcript variant 1, mRNA.	445	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	p.S501S(1)		breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CCTGCGCCCCTCGCCTAACCT	0.602										Multiple Myeloma(10;0.10)			A	51640084	T	A	51640084	3	1	206	1	0	0	0	0	1	0	0	0	9258	1551	54	5	1515	5	MAGED1	23	51640084	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	13379504	51640084	103630476	88	14215											
CDX4	1046	broad.mit.edu	37	chrX	72667161	72667161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgagccctgggggcgaCggcacagctgggacaggcgg	7	4	18	12	3	1	1	1	1	0	0	1	3	1	2	1	6	2	2	1	6	0	0			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:72667161C>T	uc011mqk.2	+	0	72	c.72C>T	c.(70-72)gaC>gaT	p.D24D		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	24						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGGGCGACGGCACAGCTG	0.612													T	72667161	C	T	72667161	2	4	206	1	0	0	0	0	0	0	0	1	3214	535	19	1		1	CDX4	23	72667161	Silent	SNP	C	TCGA-28-2513-01A-01D-1494-08	21027077	72667161	82603399	89	14216											
PCDH19	57526	broad.mit.edu	37	chrX	99662512	99662512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacgtagcccgggggggCgctctcgctgacctccacaa	7	6	13	15	4	2	1	1	1	1	0	4	2	3	1	3	3	1	3	3	3	2	1			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:99662512C>T	uc010nmz.3	-	0	2760	c.1084G>A	c.(1084-1086)Gcc>Acc	p.A362T	PCDH19_uc004efw.4_Missense_Mutation_p.A362T|PCDH19_uc004efx.4_Missense_Mutation_p.A362T	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	362	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCCGGGGGGGCGCTCTCGCTG	0.607													T	99662512	C	T	99662512	3	4	206	1	0	0	0	0	1	0	0	0	11590	768	27	1	2386	1	PCDH19	23	99662512	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	26995351	99662512	55608048	90	14217											
DDX26B	203522	broad.mit.edu	37	chrX	134681139	134681139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaaaagttcagagtggtGtagttattaattttgaaaaa	16	15	8	2	0	2	2	2	1	0	1	2	2	2	2	0	1	0	3	0	1	7	7			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:134681139G>A	uc004eyw.4	+	5	1054	c.691G>A	c.(691-693)Gta>Ata	p.V231I		NM_182540	NP_872346	Q5JSJ4	DX26B_HUMAN	Homo sapiens DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B (DDX26B), mRNA.	231										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TCAGAGTGGTGTAGTTATTAA	0.338													A	134681139	G	A	134681139	3	1	206	1	0	0	0	0	1	0	0	0	4387	1377	48	2	713	2	DDX26B	23	134681139	Missense_Mutation	SNP	G	TCGA-28-2513-01A-01D-1494-08	35018627	134681139	20589421	91	14218											
CSAG1	158511	broad.mit.edu	37	chrX	151908921	151908921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaacaaccacccatcaacaCcaaagaggcgaggaagggga	17	1	10	13	1	1	1	1	0	0	1	1	4	1	3	4	4	3	0	4	4	5	0			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:151908921C>A	uc004fge.3	+	3	488	c.160C>A	c.(160-162)Cca>Aca	p.P54T	CSAG1_uc004fgf.3_Missense_Mutation_p.P54T|CSAG1_uc004fgd.3_Non-coding_Transcript	NM_153478	NP_705611	Q6PB30	CSAG1_HUMAN	Homo sapiens chondrosarcoma associated gene 1 (CSAG1), transcript variant a, mRNA.	54										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CCCATCAACACCAAAGAGGCG	0.557													A	151908921	C	A	151908921	3	1	206	1	0	0	0	0	1	0	0	0	3957	507	18	4	166	4	CSAG1	23	151908921	Missense_Mutation	SNP	C	TCGA-28-2513-01A-01D-1494-08	17227782	151908921	3361639	92	14219											
G6PD	2539	broad.mit.edu	37	chrX	153760436	153760436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggatgggcttgggcttcTccagctcaatctggtgcagc	6	10	15	10	0	3	0	1	0	2	0	4	1	3	1	1	5	3	4	1	5	1	2			TCGA-28-2513-01A-01D-1494-08	TCGA-28-2513-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52dd150e-abd7-4fd2-abe9-09428c5a610c	1a247427-ee89-4549-b07c-21afee78cb17	g.chrX:153760436T>C	uc004fly.1	-	11	1537	c.1424A>G	c.(1423-1425)gAg>gGg	p.E475G	G6PD_uc004flx.1_Missense_Mutation_p.E505G	NM_001042351	NP_001035810	P11413	G6PD_HUMAN	Homo sapiens glucose-6-phosphate dehydrogenase (G6PD), transcript variant 2, mRNA.	475					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTGGGCTTCTCCAGCTCAAT	0.627													C	153760436	T	C	153760436	3	2	206	1	0	0	0	0	1	0	0	0	6198	1551	54	3	131	3	G6PD	23	153760436	Missense_Mutation	SNP	T	TCGA-28-2513-01A-01D-1494-08	1851515	153760436	1510124	93	14220											
PLCH2	9651	broad.mit.edu	37	chr1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacagcctggctcgccGccagcgcaccagggaccaat	9	3	13	16	4	0	0	0	0	0	0	1	3	0	2	5	3	2	2	5	3	1	0			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:2411398G>A	uc001aji.1	+	2	771	c.497G>A	c.(496-498)cGc>cAc	p.R166H	PLCH2_uc010nyz.2_5'Flank|PLCH2_uc009vle.1_5'Flank|PLCH2_uc001ajj.1_5'Flank|PLCH2_uc001ajk.1_5'Flank	NM_014638	NP_055453	O75038	PLCH2_HUMAN	Homo sapiens phospholipase C, eta 2 (PLCH2), mRNA.	166					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687													A	2411398	G	A	2411398	3	1	207	1	0	0	0	0	1	0	0	0	12115	1087	38	1	507	1	PLCH2	1	2411398	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		2411398	246839223	1	14221											
PTPN22	26191	broad.mit.edu	37	chr1	114399229	114399229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggctcagcccagtagcGctcacactttttctgttgca	6	13	8	14	1	3	0	2	0	1	0	4	0	4	0	2	1	3	5	2	1	1	4	rs115552198	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr1:114399229G>A	uc001eds.3	-	5	551	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	LOC100287722_uc001edv.1_5'Flank|PTPN22_uc021orx.1_Missense_Mutation_p.R141C|PTPN22_uc009wgq.3_Missense_Mutation_p.R141C|PTPN22_uc021ory.1_Intron|PTPN22_uc010owo.2_Intron|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.R141C|PTPN22_uc009wgs.2_Intron|PTPN22_uc001edu.2_Missense_Mutation_p.R141C	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	141	Tyrosine-protein phosphatase.				negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCCAGTAGCGCTCACACTTT	0.438													A	114399229	G	A	114399229	3	1	207	1	0	0	0	0	1	0	0	0	12875	1087	38	1	2089	1	PTPN22	1	114399229	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	111987831	114399229	134851392	2	14222											
DYSF	8291	broad.mit.edu	37	chr2	71801344	71801344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacaggcaggcggaggCggagggcgagggctgggagt	8	2	23	8	3	0	0	0	0	0	0	0	4	0	3	0	8	1	4	0	8	0	0			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:71801344C>T	uc010fen.3	+	29	3386	c.3245C>T	c.(3244-3246)gCg>gTg	p.A1082V	DYSF_uc010fei.3_Missense_Mutation_p.A1081V|DYSF_uc010feh.3_Missense_Mutation_p.A1050V|DYSF_uc002sig.4_Missense_Mutation_p.A1050V|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.A1095V|DYSF_uc010fee.3_Missense_Mutation_p.A1064V|DYSF_uc010fef.3_Missense_Mutation_p.A1081V|DYSF_uc002sie.3_Missense_Mutation_p.A1064V|DYSF_uc010feo.3_Missense_Mutation_p.A1096V|DYSF_uc010fej.3_Missense_Mutation_p.A1051V|DYSF_uc010fel.3_Missense_Mutation_p.A1051V|DYSF_uc010fem.3_Missense_Mutation_p.A1065V|DYSF_uc002sif.3_Missense_Mutation_p.A1065V|DYSF_uc010fek.3_Missense_Mutation_p.A1082V|DYSF_uc010yqy.2_5'Flank	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1064	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CAGGCGGAGGCGGAGGGCGAG	0.662													T	71801344	C	T	71801344	3	4	207	1	0	0	0	0	1	0	0	0	4898	768	27	1	3501	1	DYSF	2	71801344	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		71801344	171398029	3	14223											
SLC9A4	389015	broad.mit.edu	37	chr2	103095611	103095611	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctttggcctgggcgaCgtcaacctgctgcagaacct	8	8	12	13	2	1	1	1	0	0	1	1	2	1	1	4	3	4	2	4	3	3	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:103095611C>T	uc002tbz.4	+	1	1027	c.570C>T	c.(568-570)gaC>gaT	p.D190D		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	190					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	p.D190D(2)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCCTGGGCGACGTCAACCTGC	0.632													T	103095611	C	T	103095611	2	4	207	1	0	0	0	0	0	0	0	1	14810	535	19	1		1	SLC9A4	2	103095611	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	31294267	103095611	140103762	4	14224											
DPP10	57628	broad.mit.edu	37	chr2	116447456	116447456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagaagtagaggactccGtcttgcagtacgcggcctgg	8	8	13	12	3	1	2	0	0	1	2	3	3	3	3	3	3	2	3	3	3	3	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:116447456G>A	uc002tle.3	+	6	568	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	DPP10_uc002tla.2_Missense_Mutation_p.V179I|DPP10_uc002tlb.2_Missense_Mutation_p.V129I|DPP10_uc002tlc.2_Missense_Mutation_p.V175I|DPP10_uc002tlf.2_Missense_Mutation_p.V172I	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	179					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAGGACTCCGTCTTGCAGTA	0.438													A	116447456	G	A	116447456	3	1	207	1	0	0	0	0	1	0	0	0	4766	1145	40	1	732	1	DPP10	2	116447456	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	13351845	116447456	126751917	5	14225											
ABCB11	8647	broad.mit.edu	37	chr2	169850255	169850255	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccaatcccaatgagaGggctgacagaaataataacc	15	7	8	11	0	0	3	0	2	0	2	2	4	2	3	3	1	2	2	3	1	5	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr2:169850255G>C	uc002ueo.1	-	7	875	c.749C>G	c.(748-750)cCt>cGt	p.P250R		NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	250	ABC transmembrane type-1 1.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	CCCAATGAGAGGGCTGACAGA	0.453													C	169850255	G	C	169850255	3	2	207	1	0	0	0	0	1	0	0	0	42	1000	35	4	3300	4	ABCB11	2	169850255	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	53402799	169850255	73349118	6	14226											
FBLN2	2199	broad.mit.edu	37	chr3	13670777	13670777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctttcagcgggatgcctttGgccggggctgcatcggtagg	4	10	17	10	3	1	0	1	0	0	0	2	1	1	1	2	6	3	4	2	6	1	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:13670777G>A	uc011avc.2	+	12	3209	c.2827G>A	c.(2827-2829)Ggc>Agc	p.G943S	FBLN2_uc011auz.2_Missense_Mutation_p.G922S|FBLN2_uc011avb.2_Missense_Mutation_p.G896S|FBLN2_uc011ava.2_Missense_Mutation_p.G943S	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	938	EGF-like 8; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GGATGCCTTTGGCCGGGGCTG	0.662													A	13670777	G	A	13670777	3	1	207	1	0	0	0	0	1	0	0	0	5748	1348	47	2	1563	2	FBLN2	3	13670777	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		13670777	184351653	7	14227											
TRAT1	50852	broad.mit.edu	37	chr3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactatgtggaaaagcaaCgacaaggtaagacattttga	16	8	9	8	1	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	6	4	rs148894492		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:108549621C>T	uc003dxi.1	+	1	256	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_uc010hpx.1_Intron	NM_016388	NP_057472	Q6PIZ9	TRAT1_HUMAN	Homo sapiens T cell receptor associated transmembrane adaptor 1 (TRAT1), mRNA.	38					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity	p.R38Q(1)		endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418													T	108549621	C	T	108549621	4	4	207	1	0	0	0	0	0	1	0	0	16567	528	19	1	118	1	TRAT1	3	108549621	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	94878844	108549621	89472809	8	14228											
IFT80	57560	broad.mit.edu	37	chr3	160083930	160083930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccacgctactgaataCactggtgttcctgtaagatg	9	10	11	11	1	0	2	0	1	0	1	1	2	1	2	3	2	2	3	3	2	4	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr3:160083930C>T	uc021xgr.1	-	4	496	c.450G>A	c.(448-450)gtG>gtA	p.V150V	IFT80_uc003fda.3_Non-coding_Transcript|IFT80_uc003fdb.2_Silent_p.V13V|IFT80_uc021xgq.1_Silent_p.V148V|IFT80_uc003fde.2_Silent_p.V13V|IFT80_uc003fdd.2_Intron	NM_020800	NP_065851	Q9P2H3	IFT80_HUMAN	Homo sapiens intraflagellar transport 80 homolog (Chlamydomonas) (IFT80), transcript variant 1, mRNA.	150						cilium axoneme|microtubule basal body				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(12)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CTACTGAATACACTGGTGTTC	0.353													T	160083930	C	T	160083930	2	4	207	1	0	0	0	0	0	0	0	1	7622	465	17	2		2	IFT80	3	160083930	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	51534309	160083930	37938500	9	14229											
RBM47	54502	broad.mit.edu	37	chr4	40440481	40440481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccacgctgcagcacaCgccgagcaggcggcccgggc	6	4	15	16	5	0	0	0	0	0	0	1	1	1	0	3	3	3	5	3	3	0	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:40440481C>T	uc003gvc.2	-	3	1140	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	RBM47_uc003gvd.2_Missense_Mutation_p.V144M|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.V106M|RBM47_uc003gvg.1_Missense_Mutation_p.V144M	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	144	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						CTGCAGCACACGCCGAGCAGG	0.637													T	40440481	C	T	40440481	3	4	207	1	0	0	0	0	1	0	0	0	13229	536	19	1	1367	1	RBM47	4	40440481	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		40440481	150713795	10	14230											
LRRC66	339977	broad.mit.edu	37	chr4	52869513	52869513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctatttgcaatatcccaTtgaatgacagatccaaactc	14	11	4	12	0	0	3	0	2	0	1	3	3	2	3	3	0	2	1	3	0	5	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:52869513T>C	uc003gzi.3	-	1	549	c.542A>G	c.(541-543)aAt>aGt	p.N181S		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	181						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CAATATCCCATTGAATGACAG	0.383													C	52869513	T	C	52869513	3	2	207	1	0	0	0	0	1	0	0	0	9088	1493	52	3	2112	3	LRRC66	4	52869513	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08	12429032	52869513	138284763	11	14231											
SULT1B1	27284	broad.mit.edu	37	chr4	70596318	70596318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcacttcaaatgaggtgtGatggatgatcctatccaaga	13	11	9	8	0	2	4	2	3	0	1	4	5	4	5	2	2	0	0	2	2	3	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:70596318G>A	uc003hen.3	-	6	977	c.679C>T	c.(679-681)Cac>Tac	p.H227Y		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	227					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						AATGAGGTGTGATGGATGATC	0.378													A	70596318	G	A	70596318	3	1	207	1	0	0	0	0	1	0	0	0	15472	1290	45	2	219	2	SULT1B1	4	70596318	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	17726805	70596318	120557958	12	14232											
C4orf40	401137	broad.mit.edu	37	chr4	71021774	71021774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttctttattttagagaCggttccccttcattggtgag	7	19	8	7	1	2	2	1	1	1	1	3	3	3	2	2	2	0	1	2	2	2	9			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:71021774C>T	uc003hfa.4	+	2	128	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	C4orf40_uc003hfb.4_Missense_Mutation_p.R19W	NM_214711	NP_999876	Q6MZM9	CD040_HUMAN	Homo sapiens chromosome 4 open reading frame 40 (C4orf40), mRNA.	19						extracellular region		p.R19W(2)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						ATTTTAGAGACGGTTCCCCTT	0.259													T	71021774	C	T	71021774	3	4	207	1	0	0	0	0	1	0	0	0	2291	527	19	1	61	1	C4orf40	4	71021774	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	425456	71021774	120132502	13	14233											
AFM	173	broad.mit.edu	37	chr4	74365901	74365901	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttacctttcacgcagacAtgtgtcaatctcagaatgag	12	13	7	9	1	3	3	3	1	1	2	4	3	3	3	1	0	1	1	1	0	4	4	rs149561663		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:74365901A>C	uc003hhb.3	+	11	1634	c.1603A>C	c.(1603-1605)Atg>Ctg	p.M535L		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	535	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TCACGCAGACATGTGTCAATC	0.393													C	74365901	A	C	74365901	3	2	207	1	0	0	0	0	1	0	0	0	361	217	8	5	1649	5	AFM	4	74365901	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08	3344127	74365901	116788375	14	14234											
AGXT2L1	64850	broad.mit.edu	37	chr4	109667553	109667553	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaaagatccatggacccAcctgttagaatcctatcaag	13	11	6	11	0	2	2	1	0	1	2	4	3	4	3	4	1	0	1	4	1	6	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:109667553A>G	uc003hzc.3	-	11	1484	c.1303_splice	c.e11+1	p.V435_splice	AGXT2L1_uc010imc.3_Splice_Site_p.V429_splice|AGXT2L1_uc011cfm.2_Splice_Site_p.V395_splice|AGXT2L1_uc011cfn.2_Splice_Site_p.V362_splice|AGXT2L1_uc011cfo.2_Splice_Site_p.V377_splice	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	435					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CCATGGACCCACCTGTTAGAA	0.413													G	109667553	A	G	109667553	5	3	207	1	0	0	0	0	0	0	1	0	406	173	6	3	206	3	AGXT2L1	4	109667553	Splice_Site	SNP	A	TCGA-28-2514-01A-02D-1494-08	35301652	109667553	81486723	15	14235											
SYNPO2	171024	broad.mit.edu	37	chr4	119948017	119948017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaacaggcccgagctacCaaagggctccccaaatgcct	14	4	9	14	1	0	1	0	0	0	1	1	2	1	1	5	2	4	2	5	2	5	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr4:119948017C>T	uc010inb.3	+	2	689	c.493C>T	c.(493-495)Caa>Taa	p.Q165*	SYNPO2_uc010ina.3_Nonsense_Mutation_p.Q165*|SYNPO2_uc003icm.4_Nonsense_Mutation_p.Q165*|SYNPO2_uc011cgh.2_Intron|SYNPO2_uc010inc.3_Nonsense_Mutation_p.Q93*	NM_133477	NP_597734	Q9UMS6	SYNP2_HUMAN	Homo sapiens synaptopodin 2 (SYNPO2), transcript variant 1, mRNA.	165						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						CCCGAGCTACCAAAGGGCTCC	0.557													T	119948017	C	T	119948017	4	4	207	1	0	0	0	0	0	1	0	0	15554	595	21	2	503	2	SYNPO2	4	119948017	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	10280464	119948017	71206259	16	14236											
CAMK4	814	broad.mit.edu	37	chr5	110818505	110818505	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaattaattgttttggAtccaaagaaacggctgacta	16	11	8	6	1	0	3	0	1	0	2	1	4	1	4	1	2	1	2	1	2	6	5			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:110818505A>C	uc003kpf.3	+	9	1086	c.851A>C	c.(850-852)gAt>gCt	p.D284A	CAMK4_uc010jbv.3_Missense_Mutation_p.D87A|CAMK4_uc003kpg.3_5'UTR	NM_001744	NP_001735	Q16566	KCC4_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase IV (CAMK4), mRNA.	284	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		ATTGTTTTGGATCCAAAGAAA	0.423													C	110818505	A	C	110818505	3	2	207	1	0	0	0	0	1	0	0	0	2631	333	12	5	889	5	CAMK4	5	110818505	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08		110818505	70096755	17	14237											
PCDHB7	56129	broad.mit.edu	37	chr5	140553289	140553289	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaaagaattctcaaaacGtttcaaatcaatccaacatc	18	10	3	10	1	3	2	3	1	1	1	6	2	4	2	1	0	2	1	1	0	7	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr5:140553289G>T	uc003lit.3	+	0	1047	c.873G>T	c.(871-873)acG>acT	p.T291T		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	291	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCTCAAAACGTTTCAAATCA	0.418													T	140553289	G	T	140553289	2	4	207	1	0	0	0	0	0	0	0	1	11623	1132	40	4		4	PCDHB7	5	140553289	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08	29734784	140553289	40361971	18	14238											
KIAA1244	57221	broad.mit.edu	37	chr6	138559683	138559683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataagcagctgtcaccagcGtagcataaacactgctgtgc	12	8	9	12	1	1	0	1	0	0	0	1	0	1	0	1	0	7	5	1	0	4	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:138559683G>A	uc003qhu.3	+	5	629	c.458G>A	c.(457-459)cGt>cAt	p.R153H		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	153					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TGTCACCAGCGTAGCATAAAC	0.453													A	138559683	G	A	138559683	3	1	207	1	0	0	0	0	1	0	0	0	8275	1145	40	1	480	1	KIAA1244	6	138559683	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		138559683	32555384	19	14239											
RNASET2	8635	broad.mit.edu	37	chr6	167360227	167360227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccttcacttttatcgggCctggaaattcaaatttaaaa	13	14	5	9	1	2	0	2	0	0	0	4	1	3	1	2	2	0	0	2	2	5	6			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr6:167360227C>T	uc003qve.3	-	4	611	c.204_splice	c.e4-1	p.W68_splice	RNASET2_uc003qvf.3_Splice_Site|RNASET2_uc003qvi.1_Intron	NM_003730	NP_003721	O00584	RNT2_HUMAN	Homo sapiens ribonuclease T2 (RNASET2), mRNA.	68					RNA catabolic process	extracellular region	ribonuclease T2 activity|RNA binding			large_intestine(4)|lung(4)	8		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;1.53e-19)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00665)		TTTTATCGGGCCTGGAAATTC	0.348													T	167360227	C	T	167360227	4	4	207	1	0	0	0	0	0	1	0	0	13509	753	26	2	590	2	RNASET2	6	167360227	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	28800544	167360227	3754840	20	14240											
ABCA13	154664	broad.mit.edu	37	chr7	48443394	48443394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgggcatgtcgaggacCgtggttctggatgagcccac	7	10	14	10	2	2	1	1	1	1	0	3	4	2	3	2	4	1	2	2	4	0	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:48443394C>T	uc003toq.2	+	38	12012	c.11988C>T	c.(11986-11988)acC>acT	p.T3996T	ABCA13_uc010kys.1_Silent_p.T1070T|ABCA13_uc003tos.1_Silent_p.T822T|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	3996	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.R3996M(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGTCGAGGACCGTGGTTCTGG	0.572													T	48443394	C	T	48443394	2	4	207	1	0	0	0	0	0	0	0	1	31	639	23	1		1	ABCA13	7	48443394	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		48443394	110695269	21	14241											
EIF4H	7458	broad.mit.edu	37	chr7	73601967	73601967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcagtgctggtggccatgGttcccgtagccagaaggagt	7	8	16	10	2	0	1	0	0	0	1	1	2	1	2	3	5	2	4	3	5	2	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:73601967G>T	uc003uad.1	+	1	94	c.86G>T	c.(85-87)gGt>gTt	p.G29V	EIF4H_uc011kfg.1_Missense_Mutation_p.G29V|EIF4H_uc003uae.1_Missense_Mutation_p.G29V	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	29					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						GGTGGCCATGGTTCCCGTAGC	0.527													T	73601967	G	T	73601967	3	4	207	1	0	0	0	0	1	0	0	0	5080	1261	44	4	92	4	EIF4H	7	73601967	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	25158573	73601967	85536696	22	14242											
PILRA	29992	broad.mit.edu	37	chr7	99996939	99996939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttccaaaacacagaggagCcatatgagaatatcaggaat	17	7	8	9	0	1	2	1	1	0	2	2	5	2	4	3	2	2	0	3	2	6	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:99996939C>T	uc003uuo.1	+	4	945	c.733C>T	c.(733-735)Cca>Tca	p.P245S	PILRA_uc011kjo.2_Missense_Mutation_p.P172S|PILRA_uc003uup.1_Missense_Mutation_p.P172S|PILRA_uc003uuq.1_Silent_p.S160S	NM_013439	NP_038467	Q9UKJ1	PILRA_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor alpha (PILRA), transcript variant 1, mRNA.	245					interspecies interaction between organisms	extracellular region|integral to membrane|plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	15	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CACAGAGGAGCCATATGAGAA	0.502													T	99996939	C	T	99996939	3	4	207	1	0	0	0	0	1	0	0	0	12002	739	26	2	751	2	PILRA	7	99996939	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	26394972	99996939	59141724	23	14243											
GRM8	2918	broad.mit.edu	37	chr7	126249517	126249517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacgtccaggagcatctcCgttttcattaaaagtgacag	13	11	8	9	2	2	1	1	1	1	0	4	2	3	2	2	1	2	2	2	1	3	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr7:126249517C>T	uc003vlr.2	-	6	1704	c.1393G>A	c.(1393-1395)Gga>Aga	p.G465R	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Missense_Mutation_p.G465R|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	465					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.G465E(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGAGCATCTCCGTTTTCATTA	0.378										HNSCC(24;0.065)			T	126249517	C	T	126249517	3	4	207	1	0	0	0	0	1	0	0	0	6858	661	23	1	1399	1	GRM8	7	126249517	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	26252578	126249517	32889146	24	14244											
IDO1	3620	broad.mit.edu	37	chr8	39782809	39782809	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgggaagacccaaaggagTttgcagggggcagtgcaggc	10	6	17	8	0	1	1	0	0	1	1	1	3	1	3	1	5	2	4	1	5	2	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:39782809T>A	uc003xnm.3	+	8	889	c.775T>A	c.(775-777)Ttt>Att	p.F259I		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	259					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	CCCAAAGGAGTTTGCAGGGGG	0.507													A	39782809	T	A	39782809	3	1	207	1	0	0	0	0	1	0	0	0	7559	1725	60	5	809	5	IDO1	8	39782809	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08		39782809	106581213	25	14245											
RAD21	5885	broad.mit.edu	37	chr8	117875483	117875483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagagatgtcctgatgtccGtaatgccattttcacctatg	10	14	8	9	1	1	2	1	1	0	1	3	3	3	2	4	0	1	1	4	0	3	5			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr8:117875483G>A	uc003yod.3	-	2	448	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W		NM_006265	NP_006256	O60216	RAD21_HUMAN	Homo sapiens RAD21 homolog (S. pombe) (RAD21), mRNA.	54					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTGATGTCCGTAATGCCATT	0.348													A	117875483	G	A	117875483	3	1	207	1	0	0	0	0	1	0	0	0	13069	1144	40	1	1783	1	RAD21	8	117875483	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	78092674	117875483	28488539	26	14246											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112686091	112686091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaaatcatcctagagaaaCtgaaggaaacagaaaaatcc	21	5	7	8	0	1	3	1	1	0	2	3	5	3	4	2	1	3	1	2	1	7	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr9:112686091C>T	uc004bei.2	+	3	526	c.334C>T	c.(334-336)Ctg>Ttg	p.L112L	PALM2-AKAP2_uc004beg.3_Silent_p.L114L|PALM2-AKAP2_uc004beh.4_Silent_p.L112L|PALM2-AKAP2_uc004bej.4_Silent_p.L112L|PALM2-AKAP2_uc004bek.4_Silent_p.L112L|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CCTAGAGAAACTGAAGGAAAC	0.403													T	112686091	C	T	112686091	2	4	207	1	0	0	0	0	0	0	0	1	11486	564	20	2		2	PALM2-AKAP2	9	112686091	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		112686091	28527340	27	14247											
SUV39H2	79723	broad.mit.edu	37	chr10	14938880	14938880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgtaaaatggaaaggatgGccagattctacaaatacttg	15	11	9	6	0	1	1	0	0	1	1	1	3	1	3	1	3	2	1	1	3	6	6			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:14938880G>T	uc021png.1	+	2	319	c.213G>T	c.(211-213)tgG>tgT	p.W71C	SUV39H2_uc001ing.3_Missense_Mutation_p.W71C|SUV39H2_uc001inh.3_Missense_Mutation_p.W11C|SUV39H2_uc001ini.3_Missense_Mutation_p.W11C|SUV39H2_uc021pnh.1_Missense_Mutation_p.W11C|SUV39H2_uc001inj.3_Missense_Mutation_p.W11C	NM_001193424	NP_078946	Q9H5I1	SUV92_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 2 (Drosophila) (SUV39H2), transcript variant 1, mRNA.	71	Chromo.				cell cycle|cell differentiation|chromatin assembly or disassembly|chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin|chromosome, centromeric region|nucleus	histone methyltransferase activity (H3-K9 specific)|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)	19						GGAAAGGATGGCCAGATTCTA	0.323													T	14938880	G	T	14938880	3	4	207	1	0	0	0	0	1	0	0	0	15509	1212	42	4	35	4	SUV39H2	10	14938880	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		14938880	120595867	28	14248											
MKI67	4288	broad.mit.edu	37	chr10	129901939	129901947	+	In_Frame_Del	DEL	CTCTTTGTG	CTCTTTGTG	-																															gcacacgtgtcctgagatgcCtctttgtgcttgctgtggtg																								rs1050767	byFrequency	TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr10:129901939_129901947delCTCTTTGTG	uc001lke.3	-	12	8352_8360	c.8157_8165delCACAAAGAG	c.(8155-8166)agcacaaagagg>agg	p.STK2719del	MKI67_uc001lkf.3_In_Frame_Del_p.STK2359del|MKI67_uc009yav.1_In_Frame_Del_p.STK2294del|MKI67_uc009yaw.1_In_Frame_Del_p.STK1869del	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2719	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGATGCCTCTTTGTGCTTGCTGTGG	0.483													-	129901947	CTCTTTGTG	-	129901939	7	5	207	1	0	1	0	1	0	0	0	0	9673	681	24	0	1617	0	MKI67	10	129901939	In_Frame_Del	DEL	CTCTTTGTG	TCGA-28-2514-01A-02D-1494-08	114963059	129901939	5632808	29	14249											
SYTL2	54843	broad.mit.edu	37	chr11	85445443	85445443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgctccttctcagaaattCtctcatggatggttaggcca	10	13	8	10	0	3	1	2	0	2	1	6	2	4	2	2	3	1	2	2	3	3	3			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:85445443C>T	uc010rth.2	-	5	1315	c.926G>A	c.(925-927)aGa>aAa	p.R309K	SYTL2_uc010rtg.2_Missense_Mutation_p.R310K|SYTL2_uc010rti.2_Missense_Mutation_p.R309K|SYTL2_uc010rtj.2_Missense_Mutation_p.R261K|SYTL2_uc001pbf.4_Missense_Mutation_p.R309K|SYTL2_uc010rtf.2_Missense_Mutation_p.R167K	NM_001162951	NP_001156423	Q9HCH5	SYTL2_HUMAN	Homo sapiens synaptotagmin-like 2 (SYTL2), transcript variant g, mRNA.	309					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		CTCAGAAATTCTCTCATGGAT	0.438													T	85445443	C	T	85445443	3	4	207	1	0	0	0	0	1	0	0	0	15580	913	32	2	4411	2	SYTL2	11	85445443	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		85445443	49561073	30	14250											
PDZD3	79849	broad.mit.edu	37	chr11	119058000	119058000	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacgccgcatccgggccAgcagccctcgggtgttgctg	4	8	15	14	4	0	0	0	0	0	0	2	0	1	0	4	3	4	5	4	3	1	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr11:119058000A>T	uc001pwb.3	+	2	1074	c.550A>T	c.(550-552)Agc>Tgc	p.S184C	PDZD3_uc001pvz.3_Missense_Mutation_p.S118C|PDZD3_uc010rzd.2_Missense_Mutation_p.S105C|PDZD3_uc001pvy.3_Missense_Mutation_p.S118C|PDZD3_uc001pwa.3_5'UTR			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	184	PDZ 1.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CATCCGGGCCAGCAGCCCTCG	0.632													T	119058000	A	T	119058000	3	4	207	1	0	0	0	0	1	0	0	0	11778	188	7	5	370	5	PDZD3	11	119058000	Missense_Mutation	SNP	A	TCGA-28-2514-01A-02D-1494-08	33612557	119058000	15948516	31	14251											
PRIM1	5557	broad.mit.edu	37	chr12	57140741	57140741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacatcgtcatagtctgTcatgtcaatgtcaaatacca	12	12	5	12	1	6	0	5	0	1	0	7	0	6	0	2	0	1	0	2	0	4	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:57140741T>C	uc001smd.3	-	2	401	c.337A>G	c.(337-339)Aca>Gca	p.T113A		NM_000946	NP_000937	P49642	PRI1_HUMAN	Homo sapiens primase, DNA, polypeptide 1 (49kDa) (PRIM1), mRNA.	113					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TCATAGTCTGTCATGTCAATG	0.428													C	57140741	T	C	57140741	3	2	207	1	0	0	0	0	1	0	0	0	12576	1667	58	3	969	3	PRIM1	12	57140741	Missense_Mutation	SNP	T	TCGA-28-2514-01A-02D-1494-08		57140741	76711154	32	14252											
IL26	55801	broad.mit.edu	37	chr12	68619487	68619487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgcttggcaatggcaagaGacagagtgactaacagcaac	14	7	12	8	0	0	3	0	1	0	2	0	4	0	3	0	2	4	4	0	2	4	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr12:68619487G>C	uc001stx.1	-	0	85	c.50C>G	c.(49-51)tCt>tGt	p.S17C		NM_018402	NP_060872	Q9NPH9	IL26_HUMAN	Homo sapiens interleukin 26 (IL26), mRNA.	17					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		AATGGCAAGAGACAGAGTGAC	0.478													C	68619487	G	C	68619487	3	2	207	1	0	0	0	0	1	0	0	0	7737	942	33	4	485	4	IL26	12	68619487	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	11478746	68619487	65232408	33	14253											
MIPEP	4285	broad.mit.edu	37	chr13	24448985	24448985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagcagaaagatgtacCttttctttgtctagatggat	14	13	8	6	0	2	3	0	0	2	3	2	4	2	4	1	1	3	2	1	1	5	5			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:24448985C>T	uc001uox.4	-	5	731	c.603_splice	c.e5+1	p.K201_splice		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	201					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		AAAGATGTACCTTTTCTTTGT	0.333													T	24448985	C	T	24448985	2	4	207	1	0	0	0	0	0	0	0	1	9667	695	24	2		2	MIPEP	13	24448985	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08		24448985	90720893	34	14254											
ARHGEF7	8874	broad.mit.edu	37	chr13	111896312	111896315	+	Splice_Site	DEL	AAGT	AAGT	-																															ggccattgcagaccagtgagAagtaagttagatgataaatt																										TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr13:111896312_111896315delAAGT	uc001vrs.2	+	8	1167	c.917_splice	c.e8+1	p.K306_splice	ARHGEF7_uc001vrr.2_Splice_Site_p.K285_splice|ARHGEF7_uc001vrt.2_Splice_Site_p.K256_splice|ARHGEF7_uc010tjn.1_Intron|ARHGEF7_uc001vrv.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrw.4_Splice_Site_p.K128_splice|ARHGEF7_uc001vrx.4_Splice_Site_p.K128_splice|ARHGEF7_uc010tjo.2_Splice_Site_p.K203_splice|ARHGEF7_uc010tjp.1_Splice_Site_p.K50_splice|ARHGEF7_uc010agn.1_Splice_Site_p.K50_splice	NM_001113511	NP_001106983	Q14155	ARHG7_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 7 (ARHGEF7), transcript variant 3, mRNA.	306	DH.				apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GACCAGTGAGAAGTAAGTTAGATG	0.324													-	111896315	AAGT	-	111896312	8	5	207	1	0	1	0	1	0	0	1	0	914	260	9	0	946	0	ARHGEF7	13	111896312	Splice_Site	DEL	AAGT	TCGA-28-2514-01A-02D-1494-08	87447327	111896312	3273566	35	14255											
DLK1	8788	broad.mit.edu	37	chr14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgtcaagaagcgcgCgctgagcccccagcaggtca	9	5	12	15	3	2	2	2	1	0	1	2	2	2	2	3	1	3	2	3	1	2	0			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr14:101200827C>T	uc001yhs.4	+	4	950	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_uc001yhu.4_Intron|DLK1_uc021sbs.1_5'Flank	NM_003836	NP_003827	P80370	DLK1_HUMAN	Homo sapiens delta-like 1 homolog (Drosophila) (DLK1), mRNA.	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.A249V(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AAGAAGCGCGCGCTGAGCCCC	0.682													T	101200827	C	T	101200827	3	4	207	1	0	0	0	0	1	0	0	0	4603	768	27	1	764	1	DLK1	14	101200827	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		101200827	6148713	36	14256											
SIN3A	25942	broad.mit.edu	37	chr15	75693090	75693090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttacagagaggagtcCgtcctgtacacttgggctgc	7	11	11	12	1	1	1	0	0	1	1	3	3	3	2	3	2	3	2	3	2	2	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr15:75693090C>T	uc002bai.3	-	10	1977	c.1718G>A	c.(1717-1719)cGg>cAg	p.R573Q	SIN3A_uc002baj.3_Missense_Mutation_p.R573Q|SIN3A_uc010uml.2_Missense_Mutation_p.R573Q	NM_015477	NP_056292	Q96ST3	SIN3A_HUMAN	Homo sapiens SIN3 transcription regulator homolog A (yeast) (SIN3A), transcript variant 2, mRNA.	573	Interaction with NCOR1 (By similarity).|Interactions with SUDS3 and SAP130.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GAGAGGAGTCCGTCCTGTACA	0.493													T	75693090	C	T	75693090	3	4	207	1	0	0	0	0	1	0	0	0	14419	652	23	1	2147	1	SIN3A	15	75693090	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		75693090	26838302	37	14257											
PKD1	5310	broad.mit.edu	37	chr16	2156265	2156265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgccgcagcagcagggcGtacaccagcggggcgccagc	8	1	16	16	5	0	0	0	0	0	0	0	0	0	0	3	3	6	4	3	3	1	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:2156265G>A	uc002cos.1	-	18	7739	c.7530C>T	c.(7528-7530)taC>taT	p.Y2510Y	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.Y2510Y|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2510	REJ.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCAGCAGGGCGTACACCAGCG	0.687													A	2156265	G	A	2156265	2	1	207	1	0	0	0	0	0	0	0	1	12040	1140	40	1		1	PKD1	16	2156265	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08		2156265	88198488	38	14258											
CREBBP	1387	broad.mit.edu	37	chr16	3779062	3779062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacattcaggctcacgggggCcatctggctccccggggtcc	5	7	13	16	2	3	0	2	0	1	0	5	0	5	0	4	6	0	2	4	6	0	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:3779062C>T	uc002cvv.3	-	30	6190	c.5986G>A	c.(5986-5988)Gcc>Acc	p.A1996T	CREBBP_uc002cvw.3_Missense_Mutation_p.A1958T	NM_004380	NP_004371	Q92793	CBP_HUMAN	Homo sapiens CREB binding protein (CREBBP), transcript variant 1, mRNA.	1996					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTCACGGGGGCCATCTGGCTC	0.697			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3779062	C	T	3779062	3	4	207	1	0	0	0	0	1	0	0	0	3892	739	26	2	1346	2	CREBBP	16	3779062	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	1622797	3779062	86575691	39	14259											
ANKS3	124401	broad.mit.edu	37	chr16	4755095	4755095	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggaaacgcgggccactcaCcatagcgaggccgtggggct	8	4	16	13	5	1	0	1	0	0	0	1	2	1	1	3	5	2	1	3	5	2	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:4755095C>T	uc002cxj.2	-	8	1163	c.868_splice	c.e8+1	p.E290_splice	ANKS3_uc002cxi.2_Splice_Site_p.E217_splice|ANKS3_uc021tcj.1_Splice_Site_p.E161_splice|ANKS3_uc021tck.1_Splice_Site_p.E183_splice|ANKS3_uc002cxk.3_Splice_Site_p.E161_splice|ANKS3_uc010uxs.2_Splice_Site_p.E217_splice|ANKS3_uc002cxm.3_Splice_Site_p.E84_splice	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	290										endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCCACTCACCATAGCGAGG	0.597													T	4755095	C	T	4755095	5	4	207	1	0	0	0	0	0	0	1	0	690	521	18	2	1141	2	ANKS3	16	4755095	Splice_Site	SNP	C	TCGA-28-2514-01A-02D-1494-08	976033	4755095	85599658	40	14260											
CNGB1	1258	broad.mit.edu	37	chr16	57918280	57918280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtccggggcgcgggtgggtCggtggcggcctcctttgggt	0	9	21	11	6	0	0	0	0	0	0	3	0	2	0	3	8	0	0	3	8	0	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr16:57918280C>T	uc002emt.2	-	32	3609	c.3544G>A	c.(3544-3546)Gac>Aac	p.D1182N	CNGB1_uc010cdh.2_Missense_Mutation_p.D1176N	NM_001297	NP_001288	Q14028	CNGB1_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 1 (CNGB1), transcript variant 1, mRNA.	1182					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.D1182N(2)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GCGGGTGGGTCGGTGGCGGCC	0.721													T	57918280	C	T	57918280	3	4	207	1	0	0	0	0	1	0	0	0	3631	884	31	1	215	1	CNGB1	16	57918280	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	53163185	57918280	32436473	41	14261											
KRT39	390792	broad.mit.edu	37	chr17	39116542	39116542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttacatacttgccatccGagctctccagaaggctgcgg	9	11	9	12	2	1	1	0	0	1	1	3	2	2	1	3	2	5	2	3	2	3	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr17:39116542G>A	uc002hvo.1	-	5	1244	c.1208C>T	c.(1207-1209)tCg>tTg	p.S403L	KRT39_uc010wfm.1_Missense_Mutation_p.S136L	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	403	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.S403S(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CTTGCCATCCGAGCTCTCCAG	0.468													A	39116542	G	A	39116542	3	1	207	1	0	0	0	0	1	0	0	0	8534	1059	37	1	275	1	KRT39	17	39116542	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		39116542	42078668	42	14262											
ONECUT2	9480	broad.mit.edu	37	chr18	55103358	55103358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgagcatgtcctgcgactCgtctccgcctggcatgggca	6	9	12	14	3	1	1	0	1	1	0	4	2	2	1	3	2	2	3	3	2	0	0			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr18:55103358C>T	uc002lgo.3	+	0	442	c.410C>T	c.(409-411)tCg>tTg	p.S137L		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	137					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		TCCTGCGACTCGTCTCCGCCT	0.652													T	55103358	C	T	55103358	3	4	207	1	0	0	0	0	1	0	0	0	10945	893	31	1	412	1	ONECUT2	18	55103358	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		55103358	22973890	43	14263											
APC2	10297	broad.mit.edu	37	chr19	1466495	1466496	+	Frame_Shift_Ins	INS	-	-	T																															cggcgcaagaggggccactcINStcgctgtcccgatgcagctc																										TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:1466495_1466496insT	uc002lsr.1	+	14	3403_3404	c.3195_3196insT	c.(3193-3198)ctctcgfs	p.L1065fs	APC2_uc002lss.1_Frame_Shift_Ins_p.L647fs|APC2_uc002lst.1_Frame_Shift_Ins_p.L1065fs|APC2_uc002lsu.1_Frame_Shift_Ins_p.L1064fs|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1065	5 X 20 AA approximate repeat of F-X-V-E- X-T-P-X-C-F-S-R-X-S-S-L-S-S-L-S.|Interaction with CTNNB1.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		AGGGGCCACTCTCGCTGTCCCG	0.683													T	1466496	-	T	1466495	7	5	207	1	0	1	1	0	0	0	0	0	766	900	32	0	3249	0	APC2	19	1466495	Frame_Shift_Ins	INS	-	TCGA-28-2514-01A-02D-1494-08		1466495	57662488	44	14264											
CELF5	60680	broad.mit.edu	37	chr19	3293345	3293345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctttgataacccggccagCgcccaggcagccatccaggc	9	5	11	16	2	0	1	0	1	0	0	1	1	1	1	5	3	4	2	5	3	1	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:3293345C>T	uc002lxm.3	+	11	1396	c.1359C>T	c.(1357-1359)agC>agT	p.S453S	CELF5_uc010dtj.2_3'UTR|CELF5_uc002lxl.2_3'UTR|CELF5_uc010xhg.2_Non-coding_Transcript|CELF5_uc002lxn.3_Non-coding_Transcript	NM_021938	NP_068757	Q8N6W0	CELF5_HUMAN	Homo sapiens CUGBP, Elav-like family member 5 (CELF5), transcript variant 1, mRNA.	453	RRM 3.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCCGGCCAGCGCCCAGGCAG	0.622													T	3293345	C	T	3293345	2	4	207	1	0	0	0	0	0	0	0	1	3249	767	27	1		1	CELF5	19	3293345	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	1826850	3293345	55835638	45	14265											
TNFSF14	8740	broad.mit.edu	37	chr19	6664993	6664993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgcagtcgaaccaggcGttcatccagcacacggacga	12	5	10	14	5	2	0	2	0	0	0	4	3	3	1	2	2	2	3	2	2	1	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6664993G>A	uc002mfk.2	-	4	1049	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TNFSF14_uc002mfj.2_Missense_Mutation_p.R187C	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	223					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding	p.R223C(2)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGAACCAGGCGTTCATCCAGC	0.612													A	6664993	G	A	6664993	3	1	207	1	0	0	0	0	1	0	0	0	16407	1145	40	1	59	1	TNFSF14	19	6664993	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08	3371648	6664993	52463990	46	14266											
TNFSF14	8740	broad.mit.edu	37	chr19	6665273	6665273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccacaagggccccatcGtggtagctgaggcccctcag	8	6	13	14	1	1	2	1	2	0	0	2	2	1	2	5	3	1	2	5	3	2	1	rs147375196		TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:6665273G>A	uc002mfk.2	-	4	769	c.387C>T	c.(385-387)caC>caT	p.H129H	TNFSF14_uc002mfj.2_Silent_p.H93H	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	129					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGGCCCCATCGTGGTAGCTGA	0.647													A	6665273	G	A	6665273	2	1	207	1	0	0	0	0	0	0	0	1	16407	1136	40	1		1	TNFSF14	19	6665273	Silent	SNP	G	TCGA-28-2514-01A-02D-1494-08	280	6665273	52463710	47	14267											
LRRC8E	80131	broad.mit.edu	37	chr19	7964176	7964176	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtacaccatgtacatcCgacagacggtgctgaaagtg	11	9	10	11	2	0	2	0	1	0	1	2	3	2	2	3	1	3	3	3	1	3	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:7964176C>T	uc002mir.3	+	2	870	c.769C>T	c.(769-771)Cga>Tga	p.R257*		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	257						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CATGTACATCCGACAGACGGT	0.532													T	7964176	C	T	7964176	4	4	207	1	0	0	0	0	0	1	0	0	9095	644	23	1	775	1	LRRC8E	19	7964176	Nonsense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	1298903	7964176	51164807	48	14268											
LDLR	3949	broad.mit.edu	37	chr19	11221368	11221368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaacggcggctgttcccaCgtctgcaatgaccttaagat	11	9	9	12	3	1	2	0	1	1	1	2	2	2	2	2	2	3	3	2	2	4	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:11221368C>T	uc002mqk.4	+	6	1168	c.981C>T	c.(979-981)caC>caT	p.H327H	LDLR_uc010xlk.2_Silent_p.H327H|LDLR_uc010xll.2_Silent_p.H286H|LDLR_uc021upc.1_Silent_p.H206H|LDLR_uc010xln.2_Silent_p.H200H|LDLR_uc010xlo.2_Silent_p.H159H|LDLR_uc010xlm.2_Silent_p.H180H|LDLR_uc021upd.1_Silent_p.H64H	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	327	EGF-like 1.		H -> Y (in FH).		cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	GCTGTTCCCACGTCTGCAATG	0.627													T	11221368	C	T	11221368	2	4	207	1	0	0	0	0	0	0	0	1	8763	535	19	1		1	LDLR	19	11221368	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	3257192	11221368	47907615	49	14269											
FFAR2	2867	broad.mit.edu	37	chr19	35941517	35941517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcctccctgttgggaCgcagaggcaaagacacagca	11	5	13	12	1	0	2	0	0	0	2	2	3	2	3	2	3	1	5	2	3	1	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:35941517C>T	uc002nzg.2	+	1	981	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	FFAR2_uc010eea.3_Missense_Mutation_p.R301C	NM_005306	NP_005297	O15552	FFAR2_HUMAN	Homo sapiens free fatty acid receptor 2 (FFAR2), mRNA.	301						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.R301H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGTTGGGACGCAGAGGCAA	0.567													T	35941517	C	T	35941517	3	4	207	1	0	0	0	0	1	0	0	0	5877	536	19	1	903	1	FFAR2	19	35941517	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	24720149	35941517	23187466	50	14270											
PSG3	440533	broad.mit.edu	37	chr19	43359720	43359720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctcacctgtgagcaggaCccccttccatttgatgtgct	6	12	8	15	0	1	2	1	2	0	0	3	3	3	3	5	1	2	2	5	1	0	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:43359720C>G	uc002oug.1	-						PSG3_uc002ouf.3_Intron|PSG3_uc002oun.3_Intron|PSG10P_uc010eip.3_Non-coding_Transcript			Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 3, mRNA.						defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GTGAGCAGGACCCCCTTCCAT	0.567													G	43359720	C	G	43359720	3	3	207	1	0	0	0	0	1	0	0	0	12741	522	18	4		4	PSG3	19	43359720	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	7418203	43359720	15769263	51	14271											
KIR3DL2	3809	broad.mit.edu	37	chr19	55351111	55351111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttccgtgacgctccctaCgagtggtcaaactcgagtga	8	11	10	12	4	2	2	1	2	1	0	5	4	4	2	2	1	2	1	2	1	2	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55351111C>T	uc002qhm.1	+	4	643	c.597C>T	c.(595-597)taC>taT	p.Y199Y	KIR3DL2_uc010yfj.2_Missense_Mutation_p.T193M|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.T200M|KIR3DL2_uc002qhn.1_Intron	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	302	Ig-like C2-type 2.				cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		ACGCTCCCTACGAGTGGTCAA	0.562													T	55351111	C	T	55351111	2	4	207	1	0	0	0	0	0	0	0	1	8379	536	19	1		1	KIR3DL2	19	55351111	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	11991391	55351111	3777872	52	14272											
NLRP2	55655	broad.mit.edu	37	chr19	55495082	55495082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgcgtctgaatcagaCgccgaggttgagaggtgaga	10	8	15	8	3	3	4	2	3	1	3	3	7	3	4	1	2	1	1	1	2	1	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55495082C>T	uc021vbq.1	+	5	2127	c.2016C>T	c.(2014-2016)gaC>gaT	p.D672D	NLRP2_uc010yfp.2_Silent_p.D649D|NLRP2_uc002qij.3_Silent_p.D672D|NLRP2_uc010esp.3_Silent_p.D650D|NLRP2_uc010esn.3_Silent_p.D648D|NLRP2_uc010eso.3_Silent_p.D669D	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	672					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CTGAATCAGACGCCGAGGTTG	0.507													T	55495082	C	T	55495082	2	4	207	1	0	0	0	0	0	0	0	1	10553	535	19	1		1	NLRP2	19	55495082	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	143971	55495082	3633901	53	14273											
PTPRH	5794	broad.mit.edu	37	chr19	55693402	55693402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcagtctgcaccatcaaCggccgactctctctcatctt	8	11	5	17	2	6	0	3	0	4	0	8	1	6	0	3	1	2	1	3	1	1	1			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr19:55693402C>T	uc002qjq.3	-	18	3253	c.3180G>A	c.(3178-3180)ccG>ccA	p.P1060P	PTPRH_uc010esv.3_Silent_p.P882P|SYT5_uc002qjm.1_5'Flank|SYT5_uc002qjp.2_5'Flank|SYT5_uc002qjn.1_5'Flank|SYT5_uc002qjo.1_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	1060	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCACCATCAACGGCCGACTCT	0.637													T	55693402	C	T	55693402	2	4	207	1	0	0	0	0	0	0	0	1	12891	523	19	1		1	PTPRH	19	55693402	Silent	SNP	C	TCGA-28-2514-01A-02D-1494-08	198320	55693402	3435581	54	14274											
ZNF337	26152	broad.mit.edu	37	chr20	25666266	25666266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttccccttgctctagccGcctgatgagttctggtttag	5	14	9	13	1	2	2	0	2	2	0	3	2	3	2	4	1	2	3	4	1	2	6			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:25666266G>A	uc002wva.3	-	2	709	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	ZNF337_uc010ztg.2_Intron|ZNF337_uc002wvc.3_Missense_Mutation_p.R63W	NM_015655	NP_056470			Homo sapiens zinc finger protein 337 (ZNF337), mRNA.											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCTCTAGCCGCCTGATGAGT	0.577													A	25666266	G	A	25666266	3	1	207	1	0	0	0	0	1	0	0	0	17954	1086	38	1	2076	1	ZNF337	20	25666266	Missense_Mutation	SNP	G	TCGA-28-2514-01A-02D-1494-08		25666266	37359254	55	14275											
STAU1	6780	broad.mit.edu	37	chr20	47741010	47741010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaagaacagctatggCggcatttttctttgaaatct	10	14	7	10	1	3	2	1	1	2	1	4	2	4	2	1	2	2	2	1	2	4	4			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chr20:47741010C>T	uc002xud.3	-	6	1135	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	STAU1_uc002xua.3_Missense_Mutation_p.A161T|STAU1_uc002xub.3_Missense_Mutation_p.A167T|STAU1_uc002xuc.3_Missense_Mutation_p.A161T|STAU1_uc002xue.3_Missense_Mutation_p.A161T|STAU1_uc002xuf.3_Missense_Mutation_p.A167T|STAU1_uc002xug.3_Missense_Mutation_p.A242T	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	242	DRBM 2.					microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding	p.A242T(2)		breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCTATGGCGGCATTTTTC	0.468													T	47741010	C	T	47741010	3	4	207	1	0	0	0	0	1	0	0	0	15368	768	27	1	1041	1	STAU1	20	47741010	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08	22074744	47741010	15284510	56	14276											
SERPINA7	6906	broad.mit.edu	37	chrX	105280734	105280734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagccatgctggatctctaCcattggagtgtctgtgaggt	8	12	13	8	0	2	1	0	1	2	0	3	4	2	3	2	3	3	1	2	3	2	2			TCGA-28-2514-01A-02D-1494-08	TCGA-28-2514-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6eef4a0e-3fef-4529-8193-21b380d96344	cebad0a3-5b2f-4236-baff-dc3cfb5e886f	g.chrX:105280734C>T	uc010npd.3	-	0	551	c.316G>A	c.(316-318)Gta>Ata	p.V106I	SERPINA7_uc004eme.2_Missense_Mutation_p.V106I|SERPINA7_uc010npe.2_Missense_Mutation_p.V106I	NM_000354	NP_000345	P05543	THBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7 (SERPINA7), mRNA.	106					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V106L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	TGGATCTCTACCATTGGAGTG	0.478													T	105280734	C	T	105280734	3	4	207	1	0	0	0	0	1	0	0	0	14187	507	18	2	947	2	SERPINA7	23	105280734	Missense_Mutation	SNP	C	TCGA-28-2514-01A-02D-1494-08		105280734	49989826	57	14277											
YOD1	55432	broad.mit.edu	37	chr1	207224090	207224090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgctgagatccaggcactCgggagggtatccgacgagga	10	7	15	9	3	0	1	0	1	0	1	3	6	2	3	2	4	1	3	2	4	1	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:207224090C>T	uc001hfe.1	-	0	333	c.286G>A	c.(286-288)Gag>Aag	p.E96K	PFKFB2_uc010psc.2_Intron|YOD1_uc001hff.1_Missense_Mutation_p.E52K	NM_018566	NP_061036	Q5VVQ6	OTU1_HUMAN	Homo sapiens YOD1 OTU deubiquinating enzyme 1 homolog (S. cerevisiae) (YOD1), mRNA.	96	UBX-like.				cellular amino acid metabolic process|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination	intracellular	protein binding|ubiquitin-specific protease activity|zinc ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(3)	11	Prostate(682;0.19)					TCCAGGCACTCGGGAGGGTAT	0.632											OREG0014189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	207224090	C	T	207224090	3	4	208	1	0	0	0	0	1	0	0	0	17590	893	31	1	768	1	YOD1	1	207224090	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		207224090	42026531	1	14278											
SLC35F3	148641	broad.mit.edu	37	chr1	234455909	234455909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgatgtctcttggaatcGtcctcagcatacctgtgaat	8	14	8	11	1	3	2	1	2	2	0	6	3	4	3	2	1	2	1	2	1	3	2	rs149597390		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:234455909G>A	uc001hvy.1	+	6	1358	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	SLC35F3_uc001hwa.1_Missense_Mutation_p.V336I	NM_173508	NP_775779	Q8IY50	S35F3_HUMAN	Homo sapiens solute carrier family 35, member F3 (SLC35F3), mRNA.	336					transport	integral to membrane		p.V405I(2)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TCTTGGAATCGTCCTCAGCAT	0.393													A	234455909	G	A	234455909	3	1	208	1	0	0	0	0	1	0	0	0	14684	1145	40	1	1239	1	SLC35F3	1	234455909	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	27231819	234455909	14794712	2	14279											
OR2W5	441932	broad.mit.edu	37	chr1	247654793	247654793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgtcatgtcccatgacCgctatgtggccgtctgccgg	4	12	13	12	3	2	1	1	1	1	0	3	1	3	1	4	3	1	2	4	3	1	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr1:247654793C>T	uc001icz.2	+	0	424	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			GTCCCATGACCGCTATGTGGC	0.587													T	247654793	C	T	247654793	3	4	208	1	0	0	0	0	1	0	0	0	11110	652	23	1	366	1	OR2W5	1	247654793	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	13198884	247654793	1595828	3	14280											
IL1A	3552	broad.mit.edu	37	chr2	113532647	113532647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtgagactccagacctaCgcctggttttccagtatctg	9	11	9	12	1	1	2	0	1	1	2	3	3	3	2	4	1	1	2	4	1	3	4	rs3783588		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:113532647C>T	uc002tig.3	-	6	1773	c.813G>A	c.(811-813)gcG>gcA	p.A271A		NM_000575	NP_000566	P01583	IL1A_HUMAN	Homo sapiens interleukin 1, alpha (IL1A), mRNA.	271					anti-apoptosis|apoptosis|cell proliferation|cellular response to heat|cytokine-mediated signaling pathway|fever generation|immune response|negative regulation of cell proliferation|positive regulation of angiogenesis|positive regulation of cell division|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation vascular endothelial growth factor production|response to copper ion	cytosol|extracellular space	copper ion binding|cytokine activity|interleukin-1 receptor binding			breast(2)|large_intestine(1)|lung(9)	12						TCCAGACCTACGCCTGGTTTT	0.458													T	113532647	C	T	113532647	2	4	208	1	0	0	0	0	0	0	0	1	7708	523	19	1		1	IL1A	2	113532647	Silent	SNP	C	TCGA-28-5204-01A-01D-1486-08		113532647	129666726	4	14281											
TTN	7273	broad.mit.edu	37	chr2	179448473	179448473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactcttcctggggaatctgGtgaggtgcagtattgcaccg	7	12	13	9	1	2	1	0	1	2	0	3	2	3	2	2	4	3	3	2	4	3	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr2:179448473G>A	uc021vsy.1	-	260	57957	c.57732C>T	c.(57730-57732)caC>caT	p.H19244H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.H12939H|TTN_uc021vta.1_Silent_p.H12872H|TTN_uc021vtb.1_Silent_p.H12747H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20171	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGAATCTGGTGAGGTGCAG	0.463													A	179448473	G	A	179448473	2	1	208	1	0	0	0	0	0	0	0	1	16837	1252	44	2		2	TTN	2	179448473	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08	65915826	179448473	63750900	5	14282											
XPC	7508	broad.mit.edu	37	chr3	14197915	14197915	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctcatatttcaggagatgCcgcttcagggcatacagagg	10	9	12	10	1	3	2	3	0	0	2	3	3	3	2	2	3	2	2	2	3	2	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:14197915C>T	uc011ave.2	-	9	2057	c.1953G>A	c.(1951-1953)cgG>cgA	p.R651R	XPC_uc011avf.2_Silent_p.R458R|XPC_uc011avg.2_Silent_p.R614R|XPC_uc021wtl.1_Silent_p.R57R|XPC_uc021wtm.1_Intron	NM_004628	NP_004619	Q01831	XPC_HUMAN	Homo sapiens xeroderma pigmentosum, complementation group C (XPC), transcript variant 1, mRNA.	651	DNA-binding; preference for heteroduplex DNA.|Interaction with RAD23B.|Minimal sensor domain involved in damage recognition.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCAGGAGATGCCGCTTCAGGG	0.532			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	14197915	C	T	14197915	2	4	208	1	0	0	0	0	0	0	0	1	17543	726	26	2		2	XPC	3	14197915	Silent	SNP	C	TCGA-28-5204-01A-01D-1486-08		14197915	183824515	6	14283											
TMPRSS7	344805	broad.mit.edu	37	chr3	111769547	111769547	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtgttggtcaaagacAtcactggctttgaagggaaa	14	9	11	7	0	2	2	2	1	0	1	2	3	2	3	0	3	0	2	0	3	3	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:111769547A>G	uc010hqb.2	+	6	912	c.742A>G	c.(742-744)Atc>Gtc	p.I248V	TMPRSS7_uc011bhr.1_Missense_Mutation_p.I103V	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	374	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGTCAAAGACATCACTGGCTT	0.403													G	111769547	A	G	111769547	3	3	208	1	0	0	0	0	1	0	0	0	16352	217	8	3	764	3	TMPRSS7	3	111769547	Missense_Mutation	SNP	A	TCGA-28-5204-01A-01D-1486-08	97571632	111769547	86252883	7	14284											
RPL22L1	200916	broad.mit.edu	37	chr3	170584263	170584263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaccactcgaagccaaTcacgaagattgttcttctta	13	11	6	11	2	3	1	1	0	2	1	4	3	3	1	2	0	3	2	2	0	5	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:170584263T>C	uc003fhc.4	-	3	364	c.275A>G	c.(274-276)gAt>gGt	p.D92G	RPL22L1_uc003fhb.4_Non-coding_Transcript	NM_001099645	NP_001093115	Q6P5R6	RL22L_HUMAN	Homo sapiens ribosomal protein L22-like 1 (RPL22L1), mRNA.	92					translation	ribosome	structural constituent of ribosome			kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	4	all_cancers(22;1.96e-19)|all_lung(20;1.59e-15)|Lung NSC(18;7.08e-15)|Ovarian(172;0.00197)|Breast(254;0.137)		LUSC - Lung squamous cell carcinoma(14;1.1e-14)|Lung(28;2.99e-14)			TCGAAGCCAATCACGAAGATT	0.353													C	170584263	T	C	170584263	3	2	208	1	0	0	0	0	1	0	0	0	13660	1435	50	3	97	3	RPL22L1	3	170584263	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	58814716	170584263	27438167	8	14285											
HRG	3273	broad.mit.edu	37	chr3	186390618	186390618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcgtggacttctctgtgCggaactgccccagacaccat	8	10	9	14	2	1	1	0	0	1	1	3	3	1	3	3	2	3	0	3	2	1	2	rs140916341		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr3:186390618C>T	uc003fqq.3	+	4	624	c.601C>T	c.(601-603)Cgg>Tgg	p.R201W		NM_000412	NP_000403	P04196	HRG_HUMAN	Homo sapiens histidine-rich glycoprotein (HRG), mRNA.	201	Cystatin 2.				fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CTTCTCTGTGCGGAACTGCCC	0.423													T	186390618	C	T	186390618	3	4	208	1	0	0	0	0	1	0	0	0	7409	759	27	1	619	1	HRG	3	186390618	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	15806355	186390618	11631812	9	14286											
CNOT6L	246175	broad.mit.edu	37	chr4	78665959	78665959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtttaatgcccaggatggGcaatagccatatagctgccg	11	9	11	10	1	0	0	0	0	0	0	0	1	0	1	3	2	4	3	3	2	5	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr4:78665959G>A	uc011ccd.2	-	6	761	c.630C>T	c.(628-630)tgC>tgT	p.C210C	CNOT6L_uc003hks.3_Silent_p.C210C|CNOT6L_uc003hkt.1_Silent_p.C53C|CNOT6L_uc011cce.1_Intron	NM_144571	NP_653172	Q96LI5	CNO6L_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 6-like (CNOT6L), mRNA.	210					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CCCAGGATGGGCAATAGCCAT	0.393													A	78665959	G	A	78665959	2	1	208	1	0	0	0	0	0	0	0	1	3654	1195	42	2		2	CNOT6L	4	78665959	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08		78665959	112488317	10	14287											
PLCXD3	345557	broad.mit.edu	37	chr5	41382448	41382448	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgggcttggtggaaattcGaagatcaaaataacgaattc	14	11	10	6	2	2	1	1	0	1	1	4	4	2	2	0	3	1	1	0	3	6	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:41382448G>A	uc003jmm.1	-	1	394	c.292C>T	c.(292-294)Cga>Tga	p.R98*		NM_001005473	NP_001005473	Q63HM9	PLCX3_HUMAN	Homo sapiens phosphatidylinositol-specific phospholipase C, X domain containing 3 (PLCXD3), mRNA.	98	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity	p.R98*(2)		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						GTGGAAATTCGAAGATCAAAA	0.443													A	41382448	G	A	41382448	4	1	208	1	0	0	0	0	0	1	0	0	12120	1066	37	1	681	1	PLCXD3	5	41382448	Nonsense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		41382448	139532812	11	14288											
ERAP2	64167	broad.mit.edu	37	chr5	96239220	96239220	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccacacacttctcagaccTaaggacagagtaggtctgat	14	8	8	11	0	2	3	1	1	2	2	3	4	2	4	2	2	1	1	2	2	3	3	rs115987752	by1000genomes	TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr5:96239220T>C	uc003kmq.3	+	12	2678	c.1968T>C	c.(1966-1968)ccT>ccC	p.P656P	ERAP1_uc003kmo.1_Intron|ERAP2_uc003kmt.3_Silent_p.P656P|ERAP2_uc003kmr.3_Non-coding_Transcript|ERAP2_uc003kms.3_Silent_p.P605P|ERAP2_uc003kmu.3_Non-coding_Transcript	NM_022350	NP_071745	Q6P179	ERAP2_HUMAN	Homo sapiens endoplasmic reticulum aminopeptidase 2 (ERAP2), transcript variant 1, mRNA.	656					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		TTCTCAGACCTAAGGACAGAG	0.418													C	96239220	T	C	96239220	2	2	208	1	0	0	0	0	0	0	0	1	5245	1509	53	3		3	ERAP2	5	96239220	Silent	SNP	T	TCGA-28-5204-01A-01D-1486-08	54856772	96239220	84676040	12	14289											
OOEP	441161	broad.mit.edu	37	chr6	74079407	74079407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccggaaaccaccagggccGgatgcgaatctgtggcggcg	9	4	15	13	5	1	0	0	0	1	0	1	3	1	2	4	5	2	0	4	5	2	0			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:74079407G>A	uc003pgu.4	-	0	109	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	OOEP_uc003pgv.4_Intron	NM_001080507	NP_001073976	A6NGQ2	OOEP_HUMAN	Homo sapiens oocyte expressed protein homolog (dog) (OOEP), mRNA.	37						cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CACCAGGGCCGGATGCGAATC	0.622													A	74079407	G	A	74079407	3	1	208	1	0	0	0	0	1	0	0	0	10946	1115	39	1	352	1	OOEP	6	74079407	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		74079407	97035660	13	14290											
UST	10090	broad.mit.edu	37	chr6	149342488	149342488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgggcccttgagagaGcaaagctgaacgtgaatgaa	14	7	14	6	1	0	6	0	5	0	1	0	7	0	6	1	1	3	2	1	1	5	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr6:149342488G>A	uc003qmg.3	+	6	1104	c.808G>A	c.(808-810)Gca>Aca	p.A270T		NM_005715	NP_005706	Q9Y2C2	UST_HUMAN	Homo sapiens uronyl-2-sulfotransferase (UST), mRNA.	270					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		CCTTGAGAGAGCAAAGCTGAA	0.388													A	149342488	G	A	149342488	3	1	208	1	0	0	0	0	1	0	0	0	17195	971	34	2	834	2	UST	6	149342488	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	75263081	149342488	21772579	14	14291											
CALN1	83698	broad.mit.edu	37	chr7	71571179	71571179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatggccagctccacctcGcttggcatgtaccccaaaga	10	8	9	14	1	0	2	0	1	0	1	2	2	1	2	5	2	2	4	5	2	2	2	rs139754746		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													A	71571179	G	A	71571179	2	1	208	1	0	0	0	0	0	0	0	1	2617	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-28-5204-01A-01D-1486-08		71571179	87567484	15	14292											
GNAT3	346562	broad.mit.edu	37	chr7	80103615	80103615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcaatgattccagtcGttttcactcgagaatggaga	11	13	10	7	2	2	3	2	1	0	2	5	6	3	3	1	1	0	2	1	1	2	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:80103615G>A	uc011kgu.2	-	4	542	c.542C>T	c.(541-543)aCg>aTg	p.T181M	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	181					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						GATTCCAGTCGTTTTCACTCG	0.343													A	80103615	G	A	80103615	3	1	208	1	0	0	0	0	1	0	0	0	6569	1145	40	1	536	1	GNAT3	7	80103615	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	8532436	80103615	79035048	16	14293											
TRRAP	8295	broad.mit.edu	37	chr7	98609721	98609721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattctgaaaacggttctcCgggacgagatcattgcttgg	9	11	12	9	3	3	2	1	1	2	1	4	4	3	3	1	3	2	3	1	3	2	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:98609721C>T	uc003upp.3	+	71	11532	c.11323C>T	c.(11323-11325)Cgg>Tgg	p.R3775W	TRRAP_uc011kis.2_Missense_Mutation_p.R3746W|TRRAP_uc003upr.3_Missense_Mutation_p.R3481W|TRRAP_uc003ups.3_5'Flank	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	3775	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AACGGTTCTCCGGGACGAGAT	0.547													T	98609721	C	T	98609721	3	4	208	1	0	0	0	0	1	0	0	0	16702	643	23	1	11514	1	TRRAP	7	98609721	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	18506106	98609721	60528942	17	14294											
GJC3	349149	broad.mit.edu	37	chr7	99521178	99521178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctccaactcaggcatctCtgggtccaactggtctttgt	7	13	8	13	0	4	0	1	0	3	0	7	0	5	0	2	3	2	1	2	3	2	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:99521178C>G	uc011kjd.2	-	1	830	c.830G>C	c.(829-831)aGa>aCa	p.R277T		NM_181538	NP_853516	Q8NFK1	CXG3_HUMAN	Homo sapiens gap junction protein, gamma 3, 30.2kDa (GJC3), mRNA.	277						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					tcaggcatctctgggtccaac	0.388													G	99521178	C	G	99521178	3	3	208	1	0	0	0	0	1	0	0	0	6472	913	32	4	13	4	GJC3	7	99521178	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	911457	99521178	59617485	18	14295											
MUC17	140453	broad.mit.edu	37	chr7	100684383	100684383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattaactagtgtacctgTcagcaacacgccggtggcca	10	9	9	13	2	1	0	1	0	0	0	2	0	2	0	4	2	4	2	4	2	4	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr7:100684383T>C	uc003uxp.1	+	2	9739	c.9686T>C	c.(9685-9687)gTc>gCc	p.V3229A	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3229	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)					AGTGTACCTGTCAGCAACACG	0.478													C	100684383	T	C	100684383	3	2	208	1	0	0	0	0	1	0	0	0	10050	1667	58	3	9696	3	MUC17	7	100684383	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	1163205	100684383	58454280	19	14296											
ADAM2	2515	broad.mit.edu	37	chr8	39678526	39678526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caattaatcacctacctctaCgctttgtaatttaaaggaca	14	13	4	10	1	2	0	1	0	1	0	2	1	2	1	2	1	2	2	2	1	7	7			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr8:39678526C>T	uc003xnj.3	-	5	583	c.508G>A	c.(508-510)Gta>Ata	p.V170I	ADAM2_uc003xnk.3_Missense_Mutation_p.V170I|ADAM2_uc011lck.2_Missense_Mutation_p.V170I|ADAM2_uc003xnl.3_Missense_Mutation_p.V170I	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	170				V -> A (in Ref. 2; AAD04206).	cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CCTACCTCTACGCTTTGTAAT	0.294													T	39678526	C	T	39678526	3	4	208	1	0	0	0	0	1	0	0	0	241	536	19	1	1759	1	ADAM2	8	39678526	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		39678526	106685496	20	14297											
RORB	6096	broad.mit.edu	37	chr9	77249548	77249548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctctttttccctcaaggGattctttaggaggagccagc	7	14	9	11	0	3	0	1	0	2	0	5	3	4	3	2	3	2	0	2	3	2	6	rs143312543		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:77249548G>T	uc004aji.3	+	3	176	c.127_splice	c.e3-1	p.G43_splice	RORB_uc004ajh.3_Splice_Site_p.G32_splice	NM_006914	NP_008845	Q92753	RORB_HUMAN	Homo sapiens RAR-related orphan receptor B (RORB), mRNA.	43					eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.G32E(1)		breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						TCCCTCAAGGGATTCTTTAGG	0.413													T	77249548	G	T	77249548	3	4	208	1	0	0	0	0	1	0	0	0	13620	1188	41	4	105	4	RORB	9	77249548	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		77249548	63963883	21	14298											
BICD2	23299	broad.mit.edu	37	chr9	95481024	95481024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgcttgatctggtcacGgatgatagcgatcaggttgt	8	12	14	7	2	3	2	2	2	1	0	3	4	3	3	0	4	2	2	0	4	1	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:95481024G>A	uc004asp.1	-	4	1960	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	BICD2_uc004aso.1_Missense_Mutation_p.R635C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	635					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding	p.R635H(1)		cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						ATCTGGTCACGGATGATAGCG	0.652													A	95481024	G	A	95481024	3	1	208	1	0	0	0	0	1	0	0	0	1435	1116	39	1	686	1	BICD2	9	95481024	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	18231476	95481024	45732407	22	14299											
CYLC2	1539	broad.mit.edu	37	chr9	105767590	105767590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtaaaaaggattcaaagaAgggcaaggattcagccatag	18	6	12	5	0	2	1	2	0	0	1	2	3	2	3	1	4	1	2	1	4	7	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr9:105767590A>C	uc004bbs.2	+	4	747	c.677A>C	c.(676-678)aAg>aCg	p.K226T		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	226	3 X approximate tandem repeats.|31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GATTCAAAGAAGGGCAAGGAT	0.373													C	105767590	A	C	105767590	3	2	208	1	0	0	0	0	1	0	0	0	4175	72	3	5	695	5	CYLC2	9	105767590	Missense_Mutation	SNP	A	TCGA-28-5204-01A-01D-1486-08	10286566	105767590	35445841	23	14300											
TAF3	83860	broad.mit.edu	37	chr10	8007617	8007625	+	In_Frame_Del	DEL	AGAAGGAGA	AGAAGGAGA	-																															gaagaaaaagaaggaaaaagAgaaggagaagaaggagaagg																										TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:8007617_8007625delAGAAGGAGA	uc010qbd.2	+	2	2144_2152	c.2144_2152delAGAAGGAGA	c.(2143-2154)gagaaggagaag>gag	p.KEK719del		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	719	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						aaggaaaaagagaaggagaagaaggagaa	0.383													-	8007625	AGAAGGAGA	-	8007617	7	5	208	1	0	1	0	1	0	0	0	0	15622	304	11	0	2154	0	TAF3	10	8007617	In_Frame_Del	DEL	AGAAGGAGA	TCGA-28-5204-01A-01D-1486-08		8007617	127527130	24	14301											
FAM13C	220965	broad.mit.edu	37	chr10	61029825	61029825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtggaggtcttctggtgCactgtcggcctcattctgcc	5	12	13	11	1	4	1	1	0	3	1	5	2	4	2	2	4	2	1	2	4	0	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:61029825C>T	uc010qif.1	-	6	769	c.703G>A	c.(703-705)Gca>Aca	p.A235T	FAM13C_uc010qid.2_Missense_Mutation_p.A130T|FAM13C_uc001jkn.3_Missense_Mutation_p.A213T|FAM13C_uc001jko.3_Missense_Mutation_p.A213T|FAM13C_uc010qie.2_Missense_Mutation_p.A130T|FAM13C_uc001jkp.3_Missense_Mutation_p.A130T	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	213										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCTTCTGGTGCACTGTCGGCC	0.532													T	61029825	C	T	61029825	3	4	208	1	0	0	0	0	1	0	0	0	5499	710	25	2	1152	2	FAM13C	10	61029825	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	53022208	61029825	74504922	25	14302											
RTKN2	219790	broad.mit.edu	37	chr10	63957685	63957685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctatacttgtgcctgcagCcatgatctagggtccagaat	9	13	9	10	0	2	2	0	1	2	1	3	2	3	2	3	1	4	1	3	1	4	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr10:63957685C>G	uc001jlw.3	-	11	1909	c.1812G>C	c.(1810-1812)tgG>tgC	p.W604C	RTKN2_uc009xpf.1_Intron|RTKN2_uc001jlv.3_Missense_Mutation_p.W258C	NM_145307	NP_660350	Q8IZC4	RTKN2_HUMAN	Homo sapiens rhotekin 2 (RTKN2), mRNA.	604					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GTGCCTGCAGCCATGATCTAG	0.378													G	63957685	C	G	63957685	3	3	208	1	0	0	0	0	1	0	0	0	13814	740	26	4	21	4	RTKN2	10	63957685	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	2927860	63957685	71577062	26	14303											
OR51A2	401667	broad.mit.edu	37	chr11	4976153	4976153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagacatgcccggcaaagCggtggacaacggccaggttg	11	4	16	10	3	0	1	0	0	0	1	0	4	0	2	2	5	3	2	2	5	2	1	rs61744535		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:4976153C>T	uc010qyt.2	-	0	791	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_001004748	NP_001004748	Q8NGJ7	O51A2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily A, member 2 (OR51A2), mRNA.	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R264H(2)		endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCCGGCAAAGCGGTGGACAAC	0.453													T	4976153	C	T	4976153	3	4	208	1	0	0	0	0	1	0	0	0	11162	768	27	1	152	1	OR51A2	11	4976153	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		4976153	130030363	27	14304											
OR4C12	283093	broad.mit.edu	37	chr11	50003720	50003720	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggatgatctcagtagcAccaaaaatgtgttctgcata	14	10	9	8	0	2	1	1	1	2	0	3	2	2	2	1	1	3	5	1	1	4	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:50003720A>G	uc010ria.2	-	0	352	c.318T>C	c.(316-318)ggT>ggC	p.G106G		NM_001005270	NP_001005270	Q96R67	OR4CC_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 12 (OR4C12), mRNA.	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G106C(1)		NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTCAGTAGCACCAAAAATGT	0.453													G	50003720	A	G	50003720	2	3	208	1	0	0	0	0	0	0	0	1	11122	146	6	3		3	OR4C12	11	50003720	Silent	SNP	A	TCGA-28-5204-01A-01D-1486-08	45027567	50003720	85002796	28	14305											
CASP1	114769	broad.mit.edu	37	chr11	104912141	104912141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaagactatgataatttatGagttccagtttgcaactctt	12	16	7	6	0	1	4	0	3	1	1	2	4	2	4	1	0	2	3	1	0	5	7			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr11:104912141G>A	uc001pip.1	-	2	607	c.580C>T	c.(580-582)Cat>Tat	p.H194Y	CASP1_uc021qpt.1_Intron|CASP1_uc010rve.2_Intron|CASP1_uc010rvf.2_Intron|CASP1_uc010rvg.2_Intron|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc001pio.1_3'UTR	NM_001017534	NP_001017534	P29466	CASP1_HUMAN	Homo sapiens caspase recruitment domain family, member 16 (CARD16), transcript variant 1, mRNA.	0					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GATAATTTATGAGTTCCAGTT	0.398													A	104912141	G	A	104912141	3	1	208	1	0	0	0	0	1	0	0	0	2694	1290	45	2		2	CASP1	11	104912141	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	54908421	104912141	30094375	29	14306											
SLC38A1	81539	broad.mit.edu	37	chr12	46594890	46594890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattacttaccatagaatgTcaagtagccaaaaatggcag	18	9	7	7	0	1	1	1	0	0	1	1	1	1	1	2	1	3	2	2	1	9	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr12:46594890T>C	uc009zkj.1	-	12	1679	c.994A>G	c.(994-996)Aca>Gca	p.T332A	SLC38A1_uc001rpb.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpc.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpd.3_Missense_Mutation_p.T332A|SLC38A1_uc001rpe.3_Missense_Mutation_p.T332A|SLC38A1_uc010slh.2_Missense_Mutation_p.T305A|SLC38A1_uc001rpa.3_Missense_Mutation_p.T332A	NM_030674	NP_109599	Q9H2H9	S38A1_HUMAN	Homo sapiens solute carrier family 38, member 1 (SLC38A1), transcript variant 1, mRNA.	332					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			CCATAGAATGTCAAGTAGCCA	0.294													C	46594890	T	C	46594890	3	2	208	1	0	0	0	0	1	0	0	0	14695	1667	58	3	489	3	SLC38A1	12	46594890	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08		46594890	87257005	30	14307											
TRPC4	7223	broad.mit.edu	37	chr13	38266163	38266163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacggtaatatcatccactCgacgatggttggtggtggac	9	10	12	10	3	1	0	1	0	0	0	3	3	2	1	2	5	0	2	2	5	2	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:38266163C>T	uc010abx.3	-	3	1442	c.1207G>A	c.(1207-1209)Gag>Aag	p.E403K	TRPC4_uc010abv.3_Intron|TRPC4_uc001uwt.3_Missense_Mutation_p.E403K|TRPC4_uc001uws.3_Missense_Mutation_p.E403K|TRPC4_uc010tey.2_Missense_Mutation_p.E403K|TRPC4_uc010abw.3_Missense_Mutation_p.E230K|TRPC4_uc010aby.3_Missense_Mutation_p.E403K	NM_003306	NP_003297	Q9UBN4	TRPC4_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 4 (TRPC4), transcript variant epsilon, mRNA.	403					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		ATCATCCACTCGACGATGGTT	0.438													T	38266163	C	T	38266163	3	4	208	1	0	0	0	0	1	0	0	0	16681	893	31	1	1773	1	TRPC4	13	38266163	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		38266163	76903715	31	14308											
DACH1	1602	broad.mit.edu	37	chr13	72053352	72053352	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtgtttcccttagttCtctttcccttaaaaaatcca	10	16	3	12	0	2	0	1	0	1	0	6	0	5	0	3	0	0	2	3	0	5	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr13:72053352C>A	uc021rkj.1	-	7	2248	c.1825G>T	c.(1825-1827)Gaa>Taa	p.E609*	DACH1_uc021rkk.1_Nonsense_Mutation_p.E461*|DACH1_uc021rkl.1_Nonsense_Mutation_p.E407*	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	659					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TCCCTTAGTTCTCTTTCCCTT	0.363													A	72053352	C	A	72053352	4	1	208	1	0	0	0	0	0	1	0	0	4254	922	32	4	317	4	DACH1	13	72053352	Nonsense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	33787189	72053352	43116526	32	14309											
ACAN	176	broad.mit.edu	37	chr15	89400787	89400787	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttccatctggattcccAactgtttccctagtggattc	7	14	8	12	0	1	0	0	0	1	0	5	3	4	3	3	3	1	1	3	3	2	5			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr15:89400787A>T	uc010upo.1	+	11	5345	c.4971A>T	c.(4969-4971)ccA>ccT	p.P1657P	ACAN_uc010upp.1_Silent_p.P1657P|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	1657					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGGATTCCCAACTGTTTCCC	0.537													T	89400787	A	T	89400787	2	4	208	1	0	0	0	0	0	0	0	1	117	117	5	5		5	ACAN	15	89400787	Silent	SNP	A	TCGA-28-5204-01A-01D-1486-08		89400787	13130605	33	14310											
DPEP1	1800	broad.mit.edu	37	chr16	89703308	89703308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggacacgggagacagcGagccccagagccaaggcttg	10	4	16	11	2	0	2	0	0	0	2	0	5	0	3	3	4	3	1	3	4	1	1	rs34815649		TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr16:89703308G>A	uc010cin.3	+	5	759	c.556G>A	c.(556-558)Gag>Aag	p.E186K	DPEP1_uc002fnr.4_Missense_Mutation_p.E186K|DPEP1_uc002fns.4_Missense_Mutation_p.E186K	NM_001128141	NP_004404	P16444	DPEP1_HUMAN	Homo sapiens dipeptidase 1 (renal) (DPEP1), transcript variant 2, mRNA.	186					proteolysis	anchored to membrane|apical plasma membrane|microvillus membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity|protein binding			large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	14		all_lung(18;0.0054)|all_hematologic(23;0.094)		BRCA - Breast invasive adenocarcinoma(80;0.0258)	Cilastatin(DB01597)	GGGAGACAGCGAGCCCCAGAG	0.657													A	89703308	G	A	89703308	3	1	208	1	0	0	0	0	1	0	0	0	4752	1059	37	1	574	1	DPEP1	16	89703308	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		89703308	651445	34	14311											
PIK3R5	23533	broad.mit.edu	37	chr17	8792501	8792501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtagcacctggcgacagGgatggggatggtgtggagct	7	8	20	6	1	0	0	0	0	0	0	0	4	0	3	1	7	2	3	1	7	1	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:8792501G>T	uc002glt.3	-	8	917	c.850C>A	c.(850-852)Cct>Act	p.P284T	PIK3R5_uc010vuz.2_Missense_Mutation_p.P284T|PIK3R5_uc021tqc.1_5'UTR|PIK3R5_uc010cob.2_5'UTR|PIK3R5_uc010coa.2_5'UTR|PIK3R5_uc002glu.4_5'UTR	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	284				AKTLAELEDIFTETAEAQELASGIGDAAEARRWLRTKLQAV GEKAGFPGVLDTAKPGKLHTIPIPVARCYTYSWSQDS -> TLQNQGSSIPSPSLSPGATPTAGARTALTSCRKSCSRNRSC SSQGSWEMMKRRKRRRRRWRRTWKLMGTVPREIPCSP (in Ref. 6; AAW63122).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGGCGACAGGGATGGGGATG	0.592													T	8792501	G	T	8792501	3	4	208	1	0	0	0	0	1	0	0	0	11999	1232	43	4	1836	4	PIK3R5	17	8792501	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08		8792501	72402709	35	14312											
DBF4B	80174	broad.mit.edu	37	chr17	42828248	42828248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcggacattcctgttaaggGcccactcctcttccctgaag	7	10	10	14	1	1	1	0	1	1	0	4	2	4	2	4	3	0	1	4	3	2	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:42828248G>A	uc002ihf.3	+	13	1688	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	DBF4B_uc010wjc.2_Intron	NM_145663	NP_663696	Q8NFT6	DBF4B_HUMAN	Homo sapiens DBF4 homolog B (S. cerevisiae) (DBF4B), transcript variant 1, mRNA.	492					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				CCTGTTAAGGGCCCACTCCTC	0.592													A	42828248	G	A	42828248	3	1	208	1	0	0	0	0	1	0	0	0	4283	1203	42	2	1574	2	DBF4B	17	42828248	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	34035747	42828248	38366962	36	14313											
RGS9	8787	broad.mit.edu	37	chr17	63206625	63206625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaccctcccttttatgCggcgtcacctgcgctccagc	4	10	8	19	3	1	0	1	0	0	0	4	0	4	0	5	1	3	2	5	1	1	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:63206625C>T	uc002jfe.3	+	16	1512	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	RGS9_uc021ubw.1_Missense_Mutation_p.R434W|RGS9_uc010dem.3_Missense_Mutation_p.R434W|RGS9_uc002jfd.3_Missense_Mutation_p.R434W|RGS9_uc002jfg.3_Missense_Mutation_p.R208W	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	437					intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						CCCTTTTATGCGGCGTCACCT	0.572													T	63206625	C	T	63206625	3	4	208	1	0	0	0	0	1	0	0	0	13402	759	27	1	1375	1	RGS9	17	63206625	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	20378377	63206625	17988585	37	14314											
ABCA5	23461	broad.mit.edu	37	chr17	67264191	67264191	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattttaaaaactatatcagTaatttcctgaaagacaacca	19	12	3	7	0	1	2	1	1	0	1	2	2	2	2	2	0	2	1	2	0	9	6			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:67264191T>A	uc002jif.2	-	21	4255	c.3037A>T	c.(3037-3039)Act>Tct	p.T1013S	ABCA5_uc002jib.2_5'UTR|ABCA5_uc002jic.2_Missense_Mutation_p.T236S|ABCA5_uc002jid.2_5'UTR|ABCA5_uc002jie.2_Non-coding_Transcript|ABCA5_uc002jig.2_Missense_Mutation_p.T1013S	NM_018672	NP_758424	Q8WWZ7	ABCA5_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 5 (ABCA5), transcript variant 1, mRNA.	1013					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					ACTATATCAGTAATTTCCTGA	0.303													A	67264191	T	A	67264191	3	1	208	1	0	0	0	0	1	0	0	0	35	1638	57	5	1959	5	ABCA5	17	67264191	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	4057566	67264191	13931019	38	14315											
TNRC6C	57690	broad.mit.edu	37	chr17	76083173	76083173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctttgctccttaccctctCggtgagtgtcccatggtctt	4	15	8	14	1	2	1	0	1	2	0	5	1	4	1	4	2	2	1	4	2	1	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr17:76083173C>T	uc002jud.2	+	14	4402	c.3802_splice	c.e14+1	p.A1268_splice	TNRC6C_uc002juf.2_Splice_Site_p.A1265_splice	NM_018996	NP_061869	Q9HCJ0	TNR6C_HUMAN	Homo sapiens trinucleotide repeat containing 6C (TNRC6C), transcript variant 2, mRNA.	1268					gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CTTACCCTCTCGGTGAGTGTC	0.572													T	76083173	C	T	76083173	2	4	208	1	0	0	0	0	0	0	0	1	16442	898	31	1		1	TNRC6C	17	76083173	Silent	SNP	C	TCGA-28-5204-01A-01D-1486-08	8818982	76083173	5112037	39	14316											
ZNF554	115196	broad.mit.edu	37	chr19	2834236	2834236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgggaaggtgttcaacCggaggcattctttgagcgaa	10	10	15	6	2	2	1	1	1	1	0	2	4	2	3	1	4	2	2	1	4	3	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:2834236C>T	uc002lwm.2	+	4	1201	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W	ZNF554_uc002lwl.2_Missense_Mutation_p.R284W	NM_001102651	NP_001096121	Q86TJ5	ZN554_HUMAN	Homo sapiens zinc finger protein 554 (ZNF554), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		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)		GGTGTTCAACCGGAGGCATTC	0.532													T	2834236	C	T	2834236	3	4	208	1	0	0	0	0	1	0	0	0	18086	643	23	1	1021	1	ZNF554	19	2834236	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		2834236	56294747	40	14317											
LDLR	3949	broad.mit.edu	37	chr19	11222312	11222312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgaaggcctgcaaggctGtgggtgagcacgggaaggcg	10	4	18	9	3	0	1	0	1	0	0	0	3	0	2	1	5	2	3	1	5	3	0			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:11222312G>A	uc002mqk.4	+	7	1370	c.1183G>A	c.(1183-1185)Gtg>Atg	p.V395M	LDLR_uc010xlk.2_Missense_Mutation_p.V395M|LDLR_uc010xll.2_Missense_Mutation_p.V354M|LDLR_uc021upc.1_Missense_Mutation_p.V274M|LDLR_uc010xln.2_Missense_Mutation_p.V268M|LDLR_uc010xlo.2_Missense_Mutation_p.V227M|LDLR_uc010xlm.2_Missense_Mutation_p.V248M|LDLR_uc021upd.1_Missense_Mutation_p.V132M	NM_000527	NP_000518	P01130	LDLR_HUMAN	Homo sapiens low density lipoprotein receptor (LDLR), transcript variant 1, mRNA.	395					cholesterol homeostasis|cholesterol metabolic process|interspecies interaction between organisms|intestinal cholesterol absorption|low-density lipoprotein particle clearance|receptor-mediated endocytosis	clathrin-coated endocytic vesicle membrane|coated pit|early endosome|endosome membrane|external side of plasma membrane|integral to plasma membrane|low-density lipoprotein particle|lysosome	calcium ion binding|low-density lipoprotein receptor activity|protein binding|very-low-density lipoprotein particle receptor activity	p.?(1)		breast(2)|endometrium(2)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Lung NSC(9;0.000245)|Renal(1328;0.0007)|Hepatocellular(1079;0.0524)		GBM - Glioblastoma multiforme(1328;1.36e-05)|STAD - Stomach adenocarcinoma(1328;0.000766)|Lung(535;0.197)	Methyl aminolevulinate(DB00992)|Porfimer(DB00707)	CTGCAAGGCTGTGGGTGAGCA	0.632													A	11222312	G	A	11222312	3	1	208	1	0	0	0	0	1	0	0	0	8763	1377	48	2	1213	2	LDLR	19	11222312	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	8388076	11222312	47906671	41	14318											
RYR1	6261	broad.mit.edu	37	chr19	39008083	39008083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagacattggggggctggCcgagtcaggtgcccgctaca	7	6	17	11	2	1	1	1	0	0	1	1	2	1	1	2	6	2	3	2	6	1	2			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:39008083C>T	uc002oit.3	+	65	9900	c.9770C>T	c.(9769-9771)gCc>gTc	p.A3257V	RYR1_uc002oiu.3_Missense_Mutation_p.A3257V|RYR1_uc002oiv.1_Missense_Mutation_p.A177V|RYR1_uc010xuf.1_Missense_Mutation_p.A177V	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3257					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGGGCTGGCCGAGTCAGGT	0.657													T	39008083	C	T	39008083	3	4	208	1	0	0	0	0	1	0	0	0	13859	739	26	2	10032	2	RYR1	19	39008083	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08	27785771	39008083	20120900	42	14319											
ZNF235	9310	broad.mit.edu	37	chr19	44803797	44803797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttctccagcatcacaTctcggtacagcttcctctgg	9	12	7	13	1	4	0	1	0	3	0	7	0	5	0	2	2	3	4	2	2	3	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:44803797T>C	uc002oza.4	-	2	207	c.104A>G	c.(103-105)gAt>gGt	p.D35G	ZNF235_uc002oyx.1_Non-coding_Transcript|ZNF235_uc010eji.3_Missense_Mutation_p.D35G|ZNF235_uc002ozb.4_Missense_Mutation_p.D35G	NM_004234	NP_004225	Q14590	ZN235_HUMAN	Homo sapiens zinc finger protein 235 (ZNF235), mRNA.	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CAGCATCACATCTCGGTACAG	0.517													C	44803797	T	C	44803797	3	2	208	1	0	0	0	0	1	0	0	0	17889	1435	50	3	2124	3	ZNF235	19	44803797	Missense_Mutation	SNP	T	TCGA-28-5204-01A-01D-1486-08	5795714	44803797	14325186	43	14320											
FPR2	2358	broad.mit.edu	37	chr19	52272072	52272072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctgggtggctggattccGgatgacacgcacagtcacca	9	8	13	11	2	2	1	1	1	1	0	3	4	3	3	2	4	0	2	2	4	0	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:52272072G>A	uc002pxr.3	+	1	206	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR2_uc002pxs.4_Missense_Mutation_p.R54Q|FPR2_uc010epf.3_Missense_Mutation_p.R54Q|FPR2_uc021uyp.1_Missense_Mutation_p.R54Q	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	54					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						GCTGGATTCCGGATGACACGC	0.562													A	52272072	G	A	52272072	3	1	208	1	0	0	0	0	1	0	0	0	6090	1116	39	1	163	1	FPR2	19	52272072	Missense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	7468275	52272072	6856911	44	14321											
UBE2M	9040	broad.mit.edu	37	chr19	59067682	59067682	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccacctattcctactcaCcaagaagagatactgcaggc	14	7	6	14	0	1	2	1	0	0	2	2	3	2	2	4	1	4	1	4	1	6	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr19:59067682C>T	uc002qtl.4	-	5	1006	c.411_splice	c.e5+1	p.L137_splice	CHMP2A_uc002qti.3_5'Flank|CHMP2A_uc002qtj.3_5'Flank|CHMP2A_uc002qtk.3_5'Flank|LOC100131691_uc002qtm.3_5'Flank	NM_003969	NP_003960	P61081	UBC12_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2M (UBE2M), mRNA.	137					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		TTCCTACTCACCAAGAAGAGA	0.552													T	59067682	C	T	59067682	5	4	208	1	0	0	0	0	0	0	1	0	16967	521	18	2	147	2	UBE2M	19	59067682	Splice_Site	SNP	C	TCGA-28-5204-01A-01D-1486-08	6795610	59067682	61301	45	14322											
MATN4	8785	broad.mit.edu	37	chr20	43927050	43927050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagcgacccagagggaactCggtgcgcacgcggctcgaga	9	4	16	12	6	0	2	0	0	0	2	2	5	0	3	1	3	3	3	1	3	2	1			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr20:43927050C>T	uc002xnn.2	-	6	1373	c.1186G>A	c.(1186-1188)Gag>Aag	p.E396K	MATN4_uc002xnp.2_Missense_Mutation_p.E314K|MATN4_uc002xno.2_Missense_Mutation_p.E355K|MATN4_uc010zwr.1_Missense_Mutation_p.E344K|MATN4_uc002xnr.1_Missense_Mutation_p.E396K	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	437	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGAGGGAACTCGGTGCGCACG	0.657													T	43927050	C	T	43927050	3	4	208	1	0	0	0	0	1	0	0	0	9411	893	31	1	575	1	MATN4	20	43927050	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		43927050	19098470	46	14323											
USP25	29761	broad.mit.edu	37	chr21	17199405	17199405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccatttactcagtccCggatacctccagatttgccc	11	10	5	15	1	1	1	1	0	0	1	3	2	3	2	5	1	4	0	5	1	3	4			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr21:17199405C>T	uc011aby.1	+	13	1793	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	USP25_uc002yjz.1_Missense_Mutation_p.R526W|USP25_uc010gla.1_Intron|USP25_uc002yjy.1_Missense_Mutation_p.R526W	NM_013396	NP_037528	Q9UHP3	UBP25_HUMAN	Homo sapiens ubiquitin specific peptidase 25 (USP25), mRNA.	526					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TACTCAGTCCCGGATACCTCC	0.473													T	17199405	C	T	17199405	3	4	208	1	0	0	0	0	1	0	0	0	17158	643	23	1	1630	1	USP25	21	17199405	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		17199405	30930490	47	14324											
NEFH	4744	broad.mit.edu	37	chr22	29886478	29886478	+	Frame_Shift_Del	DEL	C	C	-																															accagcagagaagaaggaggCagcaccggagaaaaaagaca																										TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:29886478delC	uc003afo.3	+	3	2920	c.2849delC	c.(2848-2850)gcafs	p.A950fs	KIAA0845_uc003afp.3_Frame_Shift_Del_p.Q16fs	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	956	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AAGAAGGAGGCAGCACCGGAG	0.512													-	29886478	C	-	29886478	7	5	208	1	0	1	0	1	0	0	0	0	10390	710	25	0	2863	0	NEFH	22	29886478	Frame_Shift_Del	DEL	C	TCGA-28-5204-01A-01D-1486-08		29886478	21418088	48	14325											
GGA1	26088	broad.mit.edu	37	chr22	38016358	38016366	+	In_Frame_Del	DEL	AAAGAAGCA	AAAGAAGCA	-																															gcagaggcctaccagatgctAaagaagcagggtgaggcaca																										TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chr22:38016358_38016366delAAAGAAGCA	uc003atc.3	+	4	804_812	c.417_425delAAAGAAGCA	c.(415-426)ctaaagaagcag>ctg	p.KKQ140del	GGA1_uc003ate.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atd.3_In_Frame_Del_p.KKQ140del|GGA1_uc003atf.3_In_Frame_Del_p.KKQ67del	NM_013365	NP_001166159	Q9UJY5	GGA1_HUMAN	Homo sapiens golgi-associated, gamma adaptin ear containing, ARF binding protein 1 (GGA1), transcript variant 1, mRNA.	140	Interaction with ARF3.|VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					ACCAGATGCTAAAGAAGCAGGGTGAGGCA	0.617													-	38016366	AAAGAAGCA	-	38016358	7	5	208	1	0	1	0	1	0	0	0	0	6408	349	13	0	501	0	GGA1	22	38016358	In_Frame_Del	DEL	AAAGAAGCA	TCGA-28-5204-01A-01D-1486-08	8129880	38016358	13288208	49	14326											
KIAA2022	340533	broad.mit.edu	37	chrX	73961437	73961437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagagccgaccatcatcCatattgactggcccctgctg	10	9	8	14	1	1	2	1	1	0	1	2	3	2	2	5	1	2	1	5	1	3	3			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:73961437C>T	uc004eby.3	-	2	3572	c.2955G>A	c.(2953-2955)atG>atA	p.M985I		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	985					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GACCATCATCCATATTGACTG	0.448													T	73961437	C	T	73961437	3	4	208	1	0	0	0	0	1	0	0	0	8327	594	21	2	1603	2	KIAA2022	23	73961437	Missense_Mutation	SNP	C	TCGA-28-5204-01A-01D-1486-08		73961437	81309123	50	14327											
IRS4	8471	broad.mit.edu	37	chrX	107977902	107977902	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtctctggccaccacctGaaccgtgcccacctgcggtg	6	7	11	17	2	1	1	0	1	1	0	2	1	1	1	6	3	3	0	6	3	1	0			TCGA-28-5204-01A-01D-1486-08	TCGA-28-5204-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9590ee4-92d8-4afb-908e-0c816d2b82f3	3b890266-b1aa-401e-a5f2-5c35849a42f2	g.chrX:107977902G>T	uc004eoc.2	-	0	1706	c.1673C>A	c.(1672-1674)tCa>tAa	p.S558*		NM_003604	NP_003595	O14654	IRS4_HUMAN	Homo sapiens insulin receptor substrate 4 (IRS4), mRNA.	558						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity	p.G557R(1)		NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCACCTGAACCGTGCCC	0.657													T	107977902	G	T	107977902	4	4	208	1	0	0	0	0	0	1	0	0	7900	1294	45	4	2104	4	IRS4	23	107977902	Nonsense_Mutation	SNP	G	TCGA-28-5204-01A-01D-1486-08	34016465	107977902	47292658	51	14328											
NOL9	79707	broad.mit.edu	37	chr1	6589196	6589196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaggggcgacatcagaGtgggtaatccggagtgcgac	9	7	18	7	3	1	1	1	0	0	1	2	4	2	2	1	5	1	2	1	5	2	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:6589196G>T	uc001ans.3	-	9	1779	c.1683C>A	c.(1681-1683)caC>caA	p.H561Q	NOL9_uc010nzs.2_Non-coding_Transcript	NM_024654	NP_078930	Q5SY16	NOL9_HUMAN	Homo sapiens nucleolar protein 9 (NOL9), mRNA.	561					maturation of 5.8S rRNA	nucleolus	ATP binding|polynucleotide 5'-hydroxyl-kinase activity|RNA binding	p.T560I(1)		central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		CGACATCAGAGTGGGTAATCC	0.463													T	6589196	G	T	6589196	3	4	209	1	0	0	0	0	1	0	0	0	10604	1020	36	4	437	4	NOL9	1	6589196	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		6589196	242661425	1	14329											
MACF1	23499	broad.mit.edu	37	chr1	39800817	39800817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttgggtgcaaggatcaaCgtaagccaagaatgtcttca	14	10	10	7	1	3	1	2	0	1	1	3	2	3	2	1	2	3	2	1	2	6	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:39800817C>T	uc021olw.1	+	0	3877	c.3877C>T	c.(3877-3879)Cgt>Tgt	p.R1293C	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2858					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAAGGATCAACGTAAGCCAAG	0.398													T	39800817	C	T	39800817	3	4	209	1	0	0	0	0	1	0	0	0	9215	536	19	1	8648	1	MACF1	1	39800817	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	33211621	39800817	209449804	2	14330											
HYI	81888	broad.mit.edu	37	chr1	43917642	43917642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagtactgggggtcagTgatgcgggtgttgatgggct	7	10	19	5	1	1	2	1	2	0	0	1	3	1	3	0	5	2	3	0	5	2	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:43917642T>C	uc001cjo.3	-	3	665	c.469A>G	c.(469-471)Act>Gct	p.T157A	SZT2_uc001cjk.2_3'UTR|SZT2_uc001cjl.2_3'UTR|HYI_uc021omp.1_Missense_Mutation_p.T84A|HYI_uc001cjm.3_Missense_Mutation_p.T84A|HYI_uc021omq.1_Missense_Mutation_p.T182A|HYI_uc001cjn.3_Missense_Mutation_p.T157A	NM_001190880	NP_001177809	Q5T013	HYI_HUMAN	Homo sapiens hydroxypyruvate isomerase (putative) (HYI), transcript variant 3, mRNA.	157							hydroxypyruvate isomerase activity	p.F157F(2)		large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGGGGGTCAGTGATGCGGGTG	0.587													C	43917642	T	C	43917642	3	2	209	1	0	0	0	0	1	0	0	0	7526	1696	59	3	384	3	HYI	1	43917642	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	4116825	43917642	205332979	3	14331											
FCRL2	79368	broad.mit.edu	37	chr1	157740305	157740305	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaaaactgcactttggatAaggaaatctgagaatttttt	14	15	7	5	0	1	1	0	1	1	1	1	4	1	3	0	2	2	1	0	2	5	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:157740305A>T	uc001fre.2	-	2	263	c.204T>A	c.(202-204)ctT>ctA	p.L68L	FCRL2_uc001frd.2_5'Flank|FCRL2_uc010phz.1_Silent_p.L68L|FCRL2_uc009wsp.2_Silent_p.L68L|FCRL2_uc010pia.1_Silent_p.L68L	NM_030764	NP_110391	Q96LA5	FCRL2_HUMAN	Homo sapiens Fc receptor-like 2 (FCRL2), mRNA.	68	Ig-like C2-type 1.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CACTTTGGATAAGGAAATCTG	0.338													T	157740305	A	T	157740305	2	4	209	1	0	0	0	0	0	0	0	1	5844	349	13	5		5	FCRL2	1	157740305	Silent	SNP	A	TCGA-28-5207-01A-01D-1486-08	113822663	157740305	91510316	4	14332											
ZBTB37	84614	broad.mit.edu	37	chr1	173840057	173840057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtggcggaccgtgggggtCggagtgatgatgaagttaga	9	8	20	4	3	0	4	0	3	0	1	1	7	0	6	1	5	0	1	1	5	2	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:173840057C>T	uc009wwp.1	+	2	970	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	GAS5_uc001gjj.3_5'Flank|GAS5_uc001gjk.3_5'Flank|ZBTB37_uc001gjp.1_Missense_Mutation_p.R232W|ZBTB37_uc001gjq.4_Missense_Mutation_p.R232W|ZBTB37_uc001gjr.2_Missense_Mutation_p.R232W	NM_001122770	NP_001116242	Q5TC79	ZBT37_HUMAN	Homo sapiens zinc finger and BTB domain containing 37 (ZBTB37), transcript variant 1, mRNA.	232					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						CCGTGGGGGTCGGAGTGATGA	0.522													T	173840057	C	T	173840057	3	4	209	1	0	0	0	0	1	0	0	0	17639	875	31	1	696	1	ZBTB37	1	173840057	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	16099752	173840057	75410564	5	14333											
HMCN1	83872	broad.mit.edu	37	chr1	186099745	186099745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccaccccaaccatccaGtggaacagaaagggagtgga	14	3	11	13	0	0	1	0	0	0	1	1	5	1	4	6	3	2	0	6	3	3	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:186099745G>A	uc001grq.1	+	84	13375	c.13146G>A	c.(13144-13146)caG>caA	p.Q4382Q	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_5'UTR	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4382	Ig-like C2-type 43.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAACCATCCAGTGGAACAGAA	0.488													A	186099745	G	A	186099745	2	1	209	1	0	0	0	0	0	0	0	1	7275	1020	36	2		2	HMCN1	1	186099745	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	12259688	186099745	63150876	6	14334											
ASPM	259266	broad.mit.edu	37	chr1	197062332	197062332	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagatttctgccgaagaaaGacctgccttcctttatatcc	10	12	7	12	1	1	3	0	0	1	3	3	4	3	3	5	0	2	1	5	0	4	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:197062332G>C	uc001gtu.3	-	20	9401	c.9144C>G	c.(9142-9144)gtC>gtG	p.V3048V	ASPM_uc001gtv.3_Silent_p.V1463V|ASPM_uc001gtw.4_Silent_p.V896V	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3048	IQ 36.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCCGAAGAAAGACCTGCCTTC	0.348													C	197062332	G	C	197062332	2	2	209	1	0	0	0	0	0	0	0	1	1061	929	33	4		4	ASPM	1	197062332	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	10962587	197062332	52188289	7	14335											
USH2A	7399	broad.mit.edu	37	chr1	216465647	216465647	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgacaaggtttacaattGaaagcgtaaacttgatcacc	15	11	7	8	1	1	3	1	3	0	0	1	3	1	3	1	1	3	2	1	1	6	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:216465647G>C	uc001hku.1	-	9	2097	c.1710C>G	c.(1708-1710)ttC>ttG	p.F570L	USH2A_uc001hkv.3_Missense_Mutation_p.F570L	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	570	Laminin EGF-like 1.				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)		GTTTACAATTGAAAGCGTAAA	0.413										HNSCC(13;0.011)			C	216465647	G	C	216465647	3	2	209	1	0	0	0	0	1	0	0	0	17138	1281	45	4	14164	4	USH2A	1	216465647	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	19403315	216465647	32784974	8	14336											
OR2T27	403239	broad.mit.edu	37	chr1	248814129	248814129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaggggaaacgggcgttGctgaacaaacccagaaggat	14	4	14	9	2	0	2	0	1	0	1	0	4	0	4	2	4	5	2	2	4	4	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr1:248814129G>T	uc010pzo.2	-	0	57	c.57C>A	c.(55-57)agC>agA	p.S19R		NM_001001824	NP_001001824	Q8NH04	O2T27_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 27 (OR2T27), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AACGGGCGTTGCTGAACAAAC	0.468													T	248814129	G	T	248814129	3	4	209	1	0	0	0	0	1	0	0	0	11097	1310	46	4	899	4	OR2T27	1	248814129	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	32348482	248814129	436492	9	14337											
SNTG2	54221	broad.mit.edu	37	chr2	1271233	1271233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctattgcttcagcatcGtggccggccatgggaagagc	7	8	14	12	2	1	1	1	0	0	1	2	2	1	2	3	4	3	2	3	4	2	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:1271233G>A	uc002qwq.3	+	13	1303	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	SNTG2_uc010ewi.3_Missense_Mutation_p.V265M	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	392	PH.				central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTCAGCATCGTGGCCGGCCA	0.522													A	1271233	G	A	1271233	3	1	209	1	0	0	0	0	1	0	0	0	14969	1145	40	1	1228	1	SNTG2	2	1271233	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		1271233	241928140	10	14338											
STRN	6801	broad.mit.edu	37	chr2	37152302	37152302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcacaagatccttcTtcaaattttcttggcccttc	7	16	3	15	0	4	1	2	0	2	1	8	1	7	1	4	1	0	0	4	1	2	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:37152302T>C	uc002rpn.3	-	1	293	c.284A>G	c.(283-285)aAg>aGg	p.K95R	STRN_uc010ezx.3_Missense_Mutation_p.K95R	NM_003162	NP_003153	O43815	STRN_HUMAN	Homo sapiens striatin, calmodulin binding protein (STRN), mRNA.	95					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				AAGATCCTTCTTCAAATTTTC	0.368													C	37152302	T	C	37152302	3	2	209	1	0	0	0	0	1	0	0	0	15425	1609	56	3	2126	3	STRN	2	37152302	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	35881069	37152302	206047071	11	14339											
SOCS5	9655	broad.mit.edu	37	chr2	46987001	46987001	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcgacgcccatgacccGtgtgtatttcactcctccac	7	12	7	15	3	1	1	1	1	0	0	4	2	3	1	4	0	0	2	4	0	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:46987001G>T	uc021vgx.1	+	0	1332	c.1332G>T	c.(1330-1332)ccG>ccT	p.P444P	SOCS5_uc002rvf.3_Silent_p.P444P|SOCS5_uc002rvg.3_Silent_p.P444P	NM_144949	NP_659198	O75159	SOCS5_HUMAN	Homo sapiens suppressor of cytokine signaling 5 (SOCS5), transcript variant 2, mRNA.	444	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CCCATGACCCGTGTGTATTTC	0.443													T	46987001	G	T	46987001	2	4	209	1	0	0	0	0	0	0	0	1	15011	1132	40	4		4	SOCS5	2	46987001	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	9834699	46987001	196212372	12	14340											
IL1R1	3554	broad.mit.edu	37	chr2	102793083	102793083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttacacagggaccacagtCtgcaaagacaaggttctgga	13	8	10	10	0	2	1	0	0	2	1	2	3	2	3	1	3	2	2	1	3	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:102793083C>T	uc002tbq.3	+	11	1892	c.1574C>T	c.(1573-1575)tCt>tTt	p.S525F	IL1R1_uc010fix.3_Missense_Mutation_p.S494F|IL1R1_uc002tbr.3_Missense_Mutation_p.S525F	NM_000877	NP_000868	P14778	IL1R1_HUMAN	Homo sapiens interleukin 1 receptor, type I (IL1R1), mRNA.	525	TIR.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	GGACCACAGTCTGCAAAGACA	0.468													T	102793083	C	T	102793083	3	4	209	1	0	0	0	0	1	0	0	0	7716	913	32	2	1612	2	IL1R1	2	102793083	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	55806082	102793083	140406290	13	14341											
LCT	3938	broad.mit.edu	37	chr2	136558294	136558294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggcgcggtacacatcGttgtacagatgccaggcctc	8	9	12	12	3	0	2	0	1	0	1	2	2	0	2	2	3	3	3	2	3	2	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:136558294G>A	uc002tuu.1	-	11	4760	c.4749C>T	c.(4747-4749)aaC>aaT	p.N1583N		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1583	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGTACACATCGTTGTACAGAT	0.537													A	136558294	G	A	136558294	2	1	209	1	0	0	0	0	0	0	0	1	8752	1136	40	1		1	LCT	2	136558294	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	33765211	136558294	106641079	14	14342											
ARHGAP15	55843	broad.mit.edu	37	chr2	144381721	144381721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgaatttggaCgacagccagtgggaggacat	14	6	15	6	1	0	2	0	1	0	1	0	8	0	5	1	3	2	1	1	3	3	1	rs138120208		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:144381721C>T	uc002tvm.4	+	11	1174	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	ARHGAP15_uc002tvn.3_Silent_p.D107D	NM_018460	NP_060930	Q53QZ3	RHG15_HUMAN	Homo sapiens Rho GTPase activating protein 15 (ARHGAP15), mRNA.	341	Rho-GAP.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity			endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		TGAATTTGGACGACAGCCAGT	0.448													T	144381721	C	T	144381721	2	4	209	1	0	0	0	0	0	0	0	1	869	535	19	1		1	ARHGAP15	2	144381721	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	7823427	144381721	98817652	15	14343											
TTN	7273	broad.mit.edu	37	chr2	179647001	179647001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggggctttgggttgccGccaacttggcatccaaacac	9	9	11	12	1	0	0	0	0	0	0	1	0	1	0	3	4	3	3	3	4	2	3	rs141768043		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr2:179647001G>A	uc021vsy.1	-	19	3543	c.3318C>T	c.(3316-3318)ggC>ggT	p.G1106G	TTN_uc021vsz.1_Silent_p.G1060G|TTN_uc021vta.1_Silent_p.G1060G|TTN_uc021vtb.1_Silent_p.G1060G|TTN_uc002unb.2_Silent_p.G1106G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1106	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGGGTTGCCGCCAACTTGGC	0.488													A	179647001	G	A	179647001	2	1	209	1	0	0	0	0	0	0	0	1	16837	1074	38	1		1	TTN	2	179647001	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	35265280	179647001	63552372	16	14344											
LRIG1	26018	broad.mit.edu	37	chr3	66432740	66432740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctgagggccaccctcggtCctgaccacggtttcttgtcg	4	10	12	15	3	1	2	0	2	1	0	4	2	2	2	5	3	0	1	5	3	0	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:66432740C>A	uc003dmx.3	-	15	2588	c.2574G>T	c.(2572-2574)agG>agT	p.R858S	SLC25A26_uc011bft.2_Intron|LRIG1_uc011bfu.2_Missense_Mutation_p.R478S|LRIG1_uc003dmw.3_Missense_Mutation_p.R524S|LRIG1_uc010hnz.3_Missense_Mutation_p.R574S|LRIG1_uc010hoa.3_Missense_Mutation_p.R835S	NM_015541	NP_056356	Q96JA1	LRIG1_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 1 (LRIG1), mRNA.	858						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CACCCTCGGTCCTGACCACGG	0.552													A	66432740	C	A	66432740	3	1	209	1	0	0	0	0	1	0	0	0	9014	854	30	4	723	4	LRIG1	3	66432740	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		66432740	131589690	17	14345											
STXBP5L	9515	broad.mit.edu	37	chr3	120957900	120957900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catactttgcagattgtcctCcggatttgattctagtactg	8	16	8	9	1	1	2	0	1	1	1	3	3	3	3	2	1	3	2	2	1	3	7			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:120957900C>T	uc003eec.4	+	12	1407	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	STXBP5L_uc011bji.2_Missense_Mutation_p.P423S	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	423					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGATTGTCCTCCGGATTTGAT	0.308													T	120957900	C	T	120957900	3	4	209	1	0	0	0	0	1	0	0	0	15453	855	30	2	1313	2	STXBP5L	3	120957900	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	54525160	120957900	77064530	18	14346											
SLC25A36	55186	broad.mit.edu	37	chr3	140692641	140692641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actaaaaggattttatagggGcatgtctgcttcatatgctg	11	14	10	6	0	2	0	1	0	1	0	2	1	2	1	0	3	2	3	0	3	5	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr3:140692641G>A	uc003etr.2	+	5	771	c.536G>A	c.(535-537)gGc>gAc	p.G179D	SLC25A36_uc003ets.2_Missense_Mutation_p.G179D|SLC25A36_uc003etq.2_Missense_Mutation_p.G22D|SLC25A36_uc011bmz.1_Missense_Mutation_p.G153D	NM_001104647	NP_001098117	Q96CQ1	S2536_HUMAN	Homo sapiens solute carrier family 25, member 36 (SLC25A36), transcript variant 1, mRNA.	179					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTTTATAGGGGCATGTCTGCT	0.368													A	140692641	G	A	140692641	3	1	209	1	0	0	0	0	1	0	0	0	14594	1203	42	2	558	2	SLC25A36	3	140692641	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	19734741	140692641	57329789	19	14347											
PAQR3	152559	broad.mit.edu	37	chr4	79856373	79856373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatatattcccagggtgaAgaagagaaagaaacccagca	17	6	10	8	0	1	4	1	1	0	3	2	5	2	4	2	1	2	1	2	1	6	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr4:79856373A>G	uc003hlp.1	-	1	454	c.250T>C	c.(250-252)Ttc>Ctc	p.F84L	PAQR3_uc003hlm.3_Non-coding_Transcript|PAQR3_uc003hln.3_Intron|PAQR3_uc003hlq.1_Intron	NM_001040202	NP_001035292	Q6TCH7	PAQR3_HUMAN	Homo sapiens progestin and adipoQ receptor family member III (PAQR3), mRNA.	84						Golgi membrane|integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	8						CCCAGGGTGAAGAAGAGAAAG	0.368													G	79856373	A	G	79856373	3	3	209	1	0	0	0	0	1	0	0	0	11512	72	3	3	705	3	PAQR3	4	79856373	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		79856373	111297903	20	14348											
APC	324	broad.mit.edu	37	chr5	112175591	112175591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggacaaaccatgccaccaAgcagaagtaaaacacctcca	17	4	6	14	0	0	1	0	0	0	1	1	2	1	2	5	1	4	2	5	1	5	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:112175591A>G	uc003kpz.4	+	16	4493	c.4300A>G	c.(4300-4302)Agc>Ggc	p.S1434G	APC_uc011cvt.2_Missense_Mutation_p.S1416G|APC_uc003kpy.4_Missense_Mutation_p.S1434G|APC_uc010jbz.3_Missense_Mutation_p.S1151G|APC_uc010jca.3_Missense_Mutation_p.S734G	NM_001127510	NP_001120982	P25054	APC_HUMAN	Homo sapiens adenomatous polyposis coli (APC), transcript variant 2, mRNA.	1434	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.S1434I(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.?(1)|p.P1432fs*35(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CATGCCACCAAGCAGAAGTAA	0.483		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			G	112175591	A	G	112175591	3	3	209	1	0	0	0	0	1	0	0	0	765	72	3	3	4358	3	APC	5	112175591	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		112175591	68739669	21	14349											
PCDHGC5	9708	broad.mit.edu	37	chr5	140773167	140773167	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaggcacgcggctgcttActgtaacagccagcgacccg	8	5	11	17	4	0	0	0	0	0	0	0	1	0	0	4	2	5	4	4	2	2	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:140773167A>G	uc003lkd.2	+	0	1685	c.787A>G	c.(787-789)Act>Gct	p.T263A	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.T263A|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	263	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGGCTGCTTACTGTAACAGC	0.473													G	140773167	A	G	140773167	3	3	209	1	0	0	0	0	1	0	0	0	11647	391	14	3		3	PCDHGC5	5	140773167	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	28597576	140773167	40142093	22	14350											
SPRY4	81848	broad.mit.edu	37	chr5	141694230	141694230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcttgtccagctcgggtggGaccgccgggcccttgaggtc	3	9	16	13	3	0	1	0	1	0	0	3	2	1	2	4	4	2	2	4	4	0	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr5:141694230G>A	uc010jgi.1	-	2	754	c.513C>T	c.(511-513)gtC>gtT	p.V171V	SPRY4_uc003lml.2_Silent_p.V148V|SPRY4_uc021yet.1_Silent_p.V148V	NM_030964	NP_001120968	Q9C004	SPY4_HUMAN	Homo sapiens sprouty homolog 4 (Drosophila) (SPRY4), transcript variant 1, mRNA.	148	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGGGTGGGACCGCCGGGC	0.652									Testicular Cancer, Familial Clustering of				A	141694230	G	A	141694230	2	1	209	1	0	0	0	0	0	0	0	1	15204	1161	41	2		2	SPRY4	5	141694230	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	921063	141694230	39221030	23	14351											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974898	32974898	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccatgatgatgaggacGgtgcccacgaggaagcccac	10	5	14	12	2	0	3	0	3	0	0	0	6	0	5	3	3	3	0	3	3	1	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:32974898G>A	uc003ocr.3	-	3	784	c.708C>T	c.(706-708)acC>acT	p.T236T	HLA-DOA_uc010juj.3_Intron|HLA-DOA_uc010jui.3_3'UTR	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	236					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGATGAGGACGGTGCCCACGA	0.627													A	32974898	G	A	32974898	2	1	209	1	0	0	0	0	0	0	0	1	7255	1103	39	1		1	HLA-DOA	6	32974898	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08		32974898	138140169	24	14352											
PLA2G7	7941	broad.mit.edu	37	chr6	46678392	46678392	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattcttttgctctttgccGtacctaatataattattaga	11	18	4	8	1	2	1	0	0	2	1	2	1	2	1	2	0	3	2	2	0	6	10			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:46678392G>T	uc010jzf.3	-	7	936	c.667C>A	c.(667-669)Cgg>Agg	p.R223R	PLA2G7_uc021zae.1_Silent_p.R223R|PLA2G7_uc011dwd.1_Silent_p.R178R|PLA2G7_uc011dwe.1_Silent_p.R96R	NM_005084	NP_005075	Q13093	PAFA_HUMAN	Homo sapiens phospholipase A2, group VII (platelet-activating factor acetylhydrolase, plasma) (PLA2G7), transcript variant 1, mRNA.	223					inflammatory response|lipid catabolic process	extracellular space	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|skin(1)|soft_tissue(1)	14			Lung(136;0.192)			GCTCTTTGCCGTACCTAATAT	0.323													T	46678392	G	T	46678392	2	4	209	1	0	0	0	0	0	0	0	1	12086	1144	40	4		4	PLA2G7	6	46678392	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	13703494	46678392	124436675	25	14353											
QKI	9444	broad.mit.edu	37	chr6	163984582	163984585	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															cctaccataatgcctttgatCagacaaatacagaccgctgt																										TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr6:163984582_163984585delCAGA	uc003qui.3	+	5	1316_1319	c.765_768delCAGA	c.(763-768)atcagafs	p.I255fs	QKI_uc003quj.3_Frame_Shift_Del_p.I247fs|QKI_uc003quh.3_Frame_Shift_Del_p.I247fs|QKI_uc003que.3_Frame_Shift_Del_p.I255fs|QKI_uc003quf.3_Frame_Shift_Del_p.I255fs|QKI_uc003qug.3_Frame_Shift_Del_p.I255fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	255					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TGCCTTTGATCAGACAAATACAGA	0.554													-	163984585	CAGA	-	163984582	7	5	209	1	0	1	0	1	0	0	0	0	12961	816	29	0	787	0	QKI	6	163984582	Frame_Shift_Del	DEL	CAGA	TCGA-28-5207-01A-01D-1486-08	117306190	163984582	7130485	26	14354											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	209	1	0	0	0	0	1	0	0	0	5006	1319	46	2	891	2	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		55221821	103916842	27	14355											
HYAL4	23553	broad.mit.edu	37	chr7	123508443	123508443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttgtctaaaacctgctcGacttccaatttatcaaagga	12	13	5	11	1	3	0	1	0	2	0	5	2	4	1	2	1	2	1	2	1	5	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:123508443G>A	uc003vlc.3	+	2	754	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	HYAL4_uc011knz.2_Missense_Mutation_p.R39Q	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	39					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						AAACCTGCTCGACTTCCAATT	0.323													A	123508443	G	A	123508443	3	1	209	1	0	0	0	0	1	0	0	0	7524	1058	37	1	118	1	HYAL4	7	123508443	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	68286622	123508443	35630220	28	14356											
PLXNA4	91584	broad.mit.edu	37	chr7	131859666	131859666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcatggatgtccgtctgCagctcggcaaaggctggcac	8	8	13	12	2	2	0	1	0	1	0	4	1	3	1	1	4	3	6	1	4	1	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:131859666C>T	uc003vra.4	-	20	4117	c.3888G>A	c.(3886-3888)ctG>ctA	p.L1296L		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1296						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCCGTCTGCAGCTCGGCAA	0.562													T	131859666	C	T	131859666	2	4	209	1	0	0	0	0	0	0	0	1	12199	697	25	2		2	PLXNA4	7	131859666	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	8351223	131859666	27278997	29	14357											
CHRM2	1129	broad.mit.edu	37	chr7	136700324	136700324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaagtctggtacaaGgaaggatagtgaagccaaac	14	9	10	8	0	2	1	0	1	2	0	3	3	2	3	2	3	3	1	2	3	7	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr7:136700324G>C	uc003vtf.1	+	3	1335	c.712G>C	c.(712-714)Gga>Cga	p.G238R	CHRM2_uc003vtg.1_Missense_Mutation_p.G238R|CHRM2_uc003vti.1_Missense_Mutation_p.G238R|CHRM2_uc003vtm.1_Missense_Mutation_p.G238R|CHRM2_uc003vtj.1_Missense_Mutation_p.G238R|CHRM2_uc003vtk.1_Missense_Mutation_p.G238R|CHRM2_uc003vtl.1_Missense_Mutation_p.G238R|CHRM2_uc003vtn.1_Missense_Mutation_p.G238R|CHRM2_uc003vto.1_Missense_Mutation_p.G238R|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.G238R	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	238					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	TCTGGTACAAGGAAGGATAGT	0.507													C	136700324	G	C	136700324	3	2	209	1	0	0	0	0	1	0	0	0	3407	1001	35	4	714	4	CHRM2	7	136700324	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	4840658	136700324	22438339	30	14358											
TNKS	8658	broad.mit.edu	37	chr8	9620738	9620738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaagataaagaatatcAgtcagtggaagaagaggtaa	19	7	11	4	0	2	5	2	0	0	5	3	6	3	6	1	2	0	1	1	2	8	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:9620738A>G	uc003wss.3	+	21	3361	c.3356A>G	c.(3355-3357)cAg>cGg	p.Q1119R	TNKS_uc011kww.2_Missense_Mutation_p.Q882R	NM_003747	NP_003738	O95271	TNKS1_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase (TNKS), mRNA.	1119	PARP catalytic.				mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AAAGAATATCAGTCAGTGGAA	0.358													G	9620738	A	G	9620738	3	3	209	1	0	0	0	0	1	0	0	0	16419	188	7	3	3442	3	TNKS	8	9620738	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08		9620738	136743284	31	14359											
GSDMC	56169	broad.mit.edu	37	chr8	130762682	130762682	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagcccctcaccatgtTcatcaggtcctgtagagccc	7	10	10	14	0	3	1	3	0	0	1	4	2	4	2	5	2	2	2	5	2	1	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:130762682T>C	uc003ysr.3	-	10	1960	c.1078A>G	c.(1078-1080)Aac>Gac	p.N360D		NM_031415	NP_113603	Q9BYG8	GSDMC_HUMAN	Homo sapiens gasdermin C (GSDMC), mRNA.	360						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						CTCACCATGTTCATCAGGTCC	0.468													C	130762682	T	C	130762682	3	2	209	1	0	0	0	0	1	0	0	0	6873	1783	62	3	464	3	GSDMC	8	130762682	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	121141944	130762682	15601340	32	14360											
PYCRL	65263	broad.mit.edu	37	chr8	144690265	144690265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcctgtctgttggtgcActggccagtatgtgctgagc	5	13	14	9	0	1	1	0	1	1	0	2	1	2	1	2	3	3	5	2	3	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr8:144690265A>G	uc003yyy.3	-	1	189	c.159T>C	c.(157-159)agT>agC	p.S53S	PYCRL_uc011lkm.2_Silent_p.S53S|PYCRL_uc011lkn.2_Non-coding_Transcript	NM_023078	NP_075566	Q53H96	P5CR3_HUMAN	Homo sapiens pyrroline-5-carboxylate reductase-like (PYCRL), mRNA.	41					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CTGTTGGTGCACTGGCCAGTA	0.532													G	144690265	A	G	144690265	2	3	209	1	0	0	0	0	0	0	0	1	12945	156	6	3		3	PYCRL	8	144690265	Silent	SNP	A	TCGA-28-5207-01A-01D-1486-08	13927583	144690265	1673757	33	14361											
MPDZ	8777	broad.mit.edu	37	chr9	13107002	13107002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgacagtgccttttgtccGtttaaggatggcaacagctt	9	13	11	8	1	0	1	0	1	0	0	1	2	1	2	2	2	3	3	2	2	2	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:13107002G>A	uc010mhy.3	-	44	6145	c.6088C>T	c.(6088-6090)Cgg>Tgg	p.R2030W	MPDZ_uc003zkx.4_Missense_Mutation_p.R254W|MPDZ_uc003zky.4_Missense_Mutation_p.R593W|MPDZ_uc010mib.3_Missense_Mutation_p.R764W|MPDZ_uc010mhx.3_Missense_Mutation_p.R881W|MPDZ_uc011lmm.2_Missense_Mutation_p.R918W|MPDZ_uc003zkz.4_Missense_Mutation_p.R752W|MPDZ_uc010mhz.3_Missense_Mutation_p.R2026W|MPDZ_uc011lmn.2_Missense_Mutation_p.R1997W|MPDZ_uc003zlb.4_Missense_Mutation_p.R2030W	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	2059	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CCTTTTGTCCGTTTAAGGATG	0.483													A	13107002	G	A	13107002	3	1	209	1	0	0	0	0	1	0	0	0	9798	1144	40	1	41	1	MPDZ	9	13107002	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		13107002	128106429	34	14362											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967843	88967843	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgatctttgtggctgtcaTtcatccaagcgggttgactg	6	15	11	9	1	4	2	2	2	2	0	5	2	5	2	1	2	1	2	1	2	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr9:88967843T>C	uc004aou.3	-	1	410	c.272A>G	c.(271-273)aAt>aGt	p.N91S	ZCCHC6_uc011ltf.2_Non-coding_Transcript|ZCCHC6_uc004aoq.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aot.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aor.3_Non-coding_Transcript|ZCCHC6_uc004aos.3_Non-coding_Transcript|ZCCHC6_uc004aov.3_Missense_Mutation_p.N91S|ZCCHC6_uc004aow.3_Missense_Mutation_p.N91S|ZCCHC6_uc010mqf.2_Missense_Mutation_p.N91S	NM_001185059	NP_078893	Q5VYS8	TUT7_HUMAN	Homo sapiens zinc finger, CCHC domain containing 6 (ZCCHC6), transcript variant 2, mRNA.	91					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						GTGGCTGTCATTCATCCAAGC	0.438													C	88967843	T	C	88967843	3	2	209	1	0	0	0	0	1	0	0	0	17693	1493	52	3	4319	3	ZCCHC6	9	88967843	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	75860841	88967843	52245588	35	14363											
NEBL	10529	broad.mit.edu	37	chr10	21124444	21124444	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgcaccctactaacctCactcgctatctctgcagcct	9	10	4	18	2	3	0	2	0	1	0	5	0	3	0	3	0	4	3	3	0	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:21124444C>A	uc001iqi.3	-	13	1844	c.1447G>T	c.(1447-1449)Gag>Tag	p.E483*	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	483					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTACTAACCTCACTCGCTATC	0.423													A	21124444	C	A	21124444	4	1	209	1	0	0	0	0	0	1	0	0	10379	835	29	4	1657	4	NEBL	10	21124444	Nonsense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		21124444	114410303	36	14364											
COL17A1	1308	broad.mit.edu	37	chr10	105798222	105798222	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctgctgatagagccCggaggcccagggggcccagg	8	3	17	13	1	0	3	0	1	0	2	0	4	0	4	4	5	3	2	4	5	1	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr10:105798222C>A	uc001kxr.3	-	44	3181	c.3012G>T	c.(3010-3012)ccG>ccT	p.P1004P		NM_000494	NP_000485	Q9UMD9	COHA1_HUMAN	Homo sapiens collagen, type XVII, alpha 1 (COL17A1), mRNA.	1004	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding	p.P1004L(2)		NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGATAGAGCCCGGAGGCCCAG	0.607													A	105798222	C	A	105798222	2	1	209	1	0	0	0	0	0	0	0	1	3705	639	23	4		4	COL17A1	10	105798222	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	84673778	105798222	29736525	37	14365											
CTSF	8722	broad.mit.edu	37	chr11	66334786	66334786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattgaagccatcttcacagGcaagtcctggataggcagac	12	8	11	10	0	2	2	1	1	1	1	3	4	3	3	2	3	1	2	2	3	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:66334786G>A	uc001oip.3	-	3	628	c.538C>T	c.(538-540)Cct>Tct	p.P180S		NM_003793	NP_003784	Q9UBX1	CATF_HUMAN	Homo sapiens cathepsin F (CTSF), mRNA.	180					proteolysis	lysosome	cysteine-type endopeptidase activity			endometrium(1)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	19						ATCTTCACAGGCAAGTCCTGG	0.522													A	66334786	G	A	66334786	3	1	209	1	0	0	0	0	1	0	0	0	4067	1203	42	2	956	2	CTSF	11	66334786	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		66334786	68671730	38	14366											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904384	74904384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcccaagttcctggaGcgccagttttccatcacagc	7	11	8	15	1	1	0	1	0	0	0	4	1	4	1	5	1	3	2	5	1	1	4			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:74904384G>A	uc001owb.3	+	8	1592	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SLCO2B1_uc010rrq.2_Silent_p.E144E|SLCO2B1_uc010rrr.2_Silent_p.E255E|SLCO2B1_uc010rrs.2_Silent_p.E283E|SLCO2B1_uc001owc.3_Silent_p.E172E|SLCO2B1_uc001owd.3_Silent_p.E377E	NM_007256	NP_001138683	O94956	SO2B1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 2B1 (SLCO2B1), transcript variant 1, mRNA.	399					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	AGTTCCTGGAGCGCCAGTTTT	0.612													A	74904384	G	A	74904384	2	1	209	1	0	0	0	0	0	0	0	1	14821	962	34	2		2	SLCO2B1	11	74904384	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	8569598	74904384	60102132	39	14367											
C11orf63	79864	broad.mit.edu	37	chr11	122756720	122756720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagcctcacgcaagagattAtgtgccattctgagtttgat	12	12	9	8	1	2	3	1	2	1	1	2	4	2	3	2	0	2	2	2	0	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr11:122756720A>G	uc001pym.3	+	1	460	c.163A>G	c.(163-165)Atg>Gtg	p.M55V	C11orf63_uc001pyl.1_Missense_Mutation_p.M55V	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	55										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GCAAGAGATTATGTGCCATTC	0.488													G	122756720	A	G	122756720	3	3	209	1	0	0	0	0	1	0	0	0	1666	449	16	3	165	3	C11orf63	11	122756720	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	47852336	122756720	12249796	40	14368											
ATP5B	506	broad.mit.edu	37	chr12	57033894	57033894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctcagcaatggcacgcGacagtacagtggtagcatcc	11	6	11	13	2	1	0	1	0	0	0	2	1	2	0	2	2	4	6	2	2	3	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57033894G>A	uc001slr.3	-	7	1262	c.1157C>T	c.(1156-1158)tCg>tTg	p.S386L		NM_001686	NP_001677	P06576	ATPB_HUMAN	Homo sapiens ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide (ATP5B), nuclear gene encoding mitochondrial protein, mRNA.	386					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AATGGCACGCGACAGTACAGT	0.512													A	57033894	G	A	57033894	3	1	209	1	0	0	0	0	1	0	0	0	1153	1059	37	1	444	1	ATP5B	12	57033894	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		57033894	76818001	41	14369											
MARS	4141	broad.mit.edu	37	chr12	57883052	57883053	+	Frame_Shift_Ins	INS	-	-	T																															gctctctctctgggcagataINStttttttttgttatctggct																								rs11540808		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr12:57883052_57883053insT	uc001sog.3	+	2	357_358	c.203_204insT	c.(202-204)tatfs	p.Y68fs	ARHGAP9_uc001sod.3_5'Flank|ARHGAP9_uc001soe.1_5'Flank|MARS_uc001sof.1_Non-coding_Transcript|MARS_uc010srp.1_Intron|MARS_uc010srq.1_5'UTR	NM_004990	NP_004981	P56192	SYMC_HUMAN	Homo sapiens methionyl-tRNA synthetase (MARS), mRNA.	68					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	CTGGGCAGATATTTTTTTTTGT	0.485													T	57883053	-	T	57883052	7	5	209	1	0	1	1	0	0	0	0	0	9391	449	16	0	213	0	MARS	12	57883052	Frame_Shift_Ins	INS	-	TCGA-28-5207-01A-01D-1486-08	849158	57883052	75968843	42	14370											
FLT1	2321	broad.mit.edu	37	chr13	28877307	28877307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcttcgtgtcaaactctaGatgggtggggtggagtacag	9	10	16	6	1	2	1	1	0	1	1	3	2	2	2	0	5	2	2	0	5	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:28877307G>C	uc001usb.3	-	29	4299	c.4014C>G	c.(4012-4014)atC>atG	p.I1338M	FLT1_uc010aap.2_Missense_Mutation_p.I343M|FLT1_uc010aaq.2_Missense_Mutation_p.I463M|FLT1_uc001usa.3_Missense_Mutation_p.I556M	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Homo sapiens fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor) (FLT1), transcript variant 1, mRNA.	1338					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TCAAACTCTAGATGGGTGGGG	0.488													C	28877307	G	C	28877307	3	2	209	1	0	0	0	0	1	0	0	0	5990	932	33	4	6	4	FLT1	13	28877307	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		28877307	86292571	43	14371											
NALCN	259232	broad.mit.edu	37	chr13	101742235	101742235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aataacatctctcacttccaCccagcctttcaaggagagaa	14	9	5	13	0	3	1	2	0	1	1	5	3	4	2	3	1	2	0	3	1	4	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr13:101742235C>T	uc001vox.1	-	28	3541	c.3352G>A	c.(3352-3354)Gtg>Atg	p.V1118M		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1118						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CTCACTTCCACCCAGCCTTTC	0.453													T	101742235	C	T	101742235	3	4	209	1	0	0	0	0	1	0	0	0	10224	507	18	2	1928	2	NALCN	13	101742235	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	72864928	101742235	13427643	44	14372											
HERC1	8925	broad.mit.edu	37	chr15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcagcgtggcatggCgcccagtttgcttgtgaaca	7	9	12	13	2	0	1	0	1	0	0	1	1	1	1	2	2	4	4	2	2	1	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr15:63970125C>T	uc002amp.3	-	36	7137	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2330					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGTGGCATGGCGCCCAGTTTG	0.527													T	63970125	C	T	63970125	3	4	209	1	0	0	0	0	1	0	0	0	7112	768	27	1	7764	1	HERC1	15	63970125	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		63970125	38561267	45	14373											
LCAT	3931	broad.mit.edu	37	chr16	67976842	67976842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggatctggacaccaggggCgttggacacgagcccagagc	9	4	16	12	3	1	1	0	0	1	1	1	5	1	4	2	5	2	1	2	5	0	1	rs28940886		TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr16:67976842C>T	uc002euy.1	-	2	360	c.349G>A	c.(349-351)Gcc>Acc	p.A117T		NM_000229	NP_000220	P04180	LCAT_HUMAN	Homo sapiens lecithin-cholesterol acyltransferase (LCAT), mRNA.	117			A -> T (in LCATD; dbSNP:rs28940886).		cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|reverse cholesterol transport|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein A-I binding|phosphatidylcholine-sterol O-acyltransferase activity			cervix(4)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)	16		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00418)|Epithelial(162;0.0183)|all cancers(182;0.12)		ACACCAGGGGCGTTGGACACG	0.642													T	67976842	C	T	67976842	3	4	209	1	0	0	0	0	1	0	0	0	8717	768	27	1	989	1	LCAT	16	67976842	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		67976842	22377911	46	14374											
USP6	9098	broad.mit.edu	37	chr17	5037198	5037198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagatcatgaaggagagggGcaagaggtcatctgaacaca	16	5	13	7	0	3	5	2	2	1	3	3	6	3	5	0	4	1	1	0	4	3	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:5037198G>A	uc002gau.1	+	14	2631	c.401G>A	c.(400-402)gGc>gAc	p.G134D	USP6_uc002gav.1_Missense_Mutation_p.G134D|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.G195D|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	134	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AAGGAGAGGGGCAAGAGGTCA	0.552			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5037198	G	A	5037198	3	1	209	1	0	0	0	0	1	0	0	0	17188	1203	42	2	423	2	USP6	17	5037198	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		5037198	76158012	47	14375											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctcaaagctgttccgtCccagtagattaccactactc	10	10	6	15	1	1	1	1	0	0	1	4	1	3	1	4	0	3	4	4	0	4	4			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:7577141C>A	uc002gim.2	-	7	991	c.797G>T	c.(796-798)gGa>gTa	p.G266V	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.G266V|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G134V|TP53_uc010cnf.1_Missense_Mutation_p.G134V|TP53_uc002gii.1_Missense_Mutation_p.G134V|TP53_uc010cni.1_Missense_Mutation_p.G266V|TP53_uc010cnh.1_Missense_Mutation_p.G266V|TP53_uc002gij.2_Missense_Mutation_p.G266V|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(99)|p.G266V(78)|p.G266R(45)|p.L265P(15)|p.G266*(13)|p.G266fs*79(8)|p.0?(8)|p.G262_F270delGNLLGRNSF(4)|p.G266A(4)|p.L265R(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.L265M(4)|p.L265fs*80(3)|p.?(3)|p.L265L(3)|p.G266T(2)|p.G266_N268delGRN(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.L265del(2)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265fs*81(1)|p.264_265insSSGNL(1)|p.G262fs*2(1)|p.L265Q(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			A	7577141	C	A	7577141	3	1	209	1	0	0	0	0	1	0	0	0	16482	855	30	4	489	4	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	2539943	7577141	73618069	48	14376											
KRT40	125115	broad.mit.edu	37	chr17	39135111	39135111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgatctcaccctccagccGggccttcacgtccaggagca	7	8	10	16	2	2	1	2	1	1	0	5	2	4	2	5	2	2	2	5	2	0	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:39135111G>A	uc010cxh.1	-	7	1302	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W	KRT40_uc002hvq.1_Non-coding_Transcript	NM_182497	NP_872303	Q6A162	K1C40_HUMAN	Homo sapiens keratin 40 (KRT40), mRNA.	381	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				CCCTCCAGCCGGGCCTTCACG	0.582													A	39135111	G	A	39135111	3	1	209	1	0	0	0	0	1	0	0	0	8536	1115	39	1	162	1	KRT40	17	39135111	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	31557970	39135111	42060099	49	14377											
SP6	80320	broad.mit.edu	37	chr17	45925367	45925367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgaagcgcccccgggtgGccaggtgaggtcagcgcgcc	5	4	17	15	4	1	2	1	2	0	0	1	2	1	2	5	4	2	0	5	4	1	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:45925367G>A	uc002imh.1	-	1	707	c.429C>T	c.(427-429)ggC>ggT	p.G143G	SP6_uc002img.1_Silent_p.G143G|SP6_uc021tzc.1_Silent_p.G143G	NM_199262	NP_954871	Q3SY56	SP6_HUMAN	Homo sapiens Sp6 transcription factor (SP6), mRNA.	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCCCCGGGTGGCCAGGTGAGG	0.706													A	45925367	G	A	45925367	2	1	209	1	0	0	0	0	0	0	0	1	15062	1190	42	2		2	SP6	17	45925367	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	6790256	45925367	35269843	50	14378											
OTOP2	92736	broad.mit.edu	37	chr17	72926423	72926423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctctgcagcacggcCgtctgccagatcttccagca	6	9	9	17	2	3	1	0	0	3	1	5	1	5	1	5	1	5	3	5	1	0	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:72926423C>T	uc010wrp.2	+	5	785	c.693C>T	c.(691-693)gcC>gcT	p.A231A		NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	231						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GCAGCACGGCCGTCTGCCAGA	0.562													T	72926423	C	T	72926423	2	4	209	1	0	0	0	0	0	0	0	1	11382	639	23	1		1	OTOP2	17	72926423	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08	27001056	72926423	8268787	51	14379											
PRPSAP1	5635	broad.mit.edu	37	chr17	74326154	74326154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaggagacttagctacaAtgactgcatttctgtaattt	12	14	7	8	0	2	2	1	1	1	1	2	3	2	2	0	1	3	3	0	1	4	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr17:74326154A>G	uc010wtb.1	-	5	517	c.296T>C	c.(295-297)aTt>aCt	p.I99T	PRPSAP1_uc010wta.1_Missense_Mutation_p.I202T	NM_002766	NP_002757	Q14558	KPRA_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase-associated protein 1 (PRPSAP1), mRNA.	173					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						CTTAGCTACAATGACTGCATT	0.393													G	74326154	A	G	74326154	3	3	209	1	0	0	0	0	1	0	0	0	12667	101	4	3	572	3	PRPSAP1	17	74326154	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	1399731	74326154	6869056	52	14380											
COLEC12	81035	broad.mit.edu	37	chr18	335090	335090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctctccggggggaccagCtggtccaattgggcctctct	5	9	13	14	2	2	0	0	0	2	0	5	1	3	1	4	5	1	2	4	5	1	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr18:335090C>G	uc002kkm.3	-	5	1683	c.1468G>C	c.(1468-1470)Gct>Cct	p.A490P		NM_130386	NP_569057	Q5KU26	COL12_HUMAN	Homo sapiens collectin sub-family member 12 (COLEC12), mRNA.	490	Collagen-like 2.				carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity	p.P489L(1)		cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GGGGGACCAGCTGGTCCAATT	0.677													G	335090	C	G	335090	3	3	209	1	0	0	0	0	1	0	0	0	3743	797	28	4	780	4	COLEC12	18	335090	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		335090	77742158	53	14381											
ICAM1	3383	broad.mit.edu	37	chr19	10394791	10394791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtggtctgttccctggaCgggctgttcccagtctcgga	4	11	13	13	3	2	0	0	0	2	0	5	2	4	2	3	4	0	3	3	4	0	2	rs143689328	byFrequency	TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:10394791C>T	uc002mnq.2	+	3	1039	c.720C>T	c.(718-720)gaC>gaT	p.D240D	ICAM1_uc010xle.1_Intron|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	240	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GTTCCCTGGACGGGCTGTTCC	0.637													T	10394791	C	T	10394791	2	4	209	1	0	0	0	0	0	0	0	1	7537	535	19	1		1	ICAM1	19	10394791	Silent	SNP	C	TCGA-28-5207-01A-01D-1486-08		10394791	48734192	54	14382											
SMARCA4	6597	broad.mit.edu	37	chr19	11132404	11132404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggggcccgcagatcCgttggaagtacatgattgtg	8	10	13	10	2	1	2	0	1	1	1	2	3	2	3	2	3	1	3	2	3	2	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:11132404C>T	uc010dxp.3	+	19	2980	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SMARCA4_uc010dxo.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqf.4_Missense_Mutation_p.R874C|SMARCA4_uc002mqg.1_Missense_Mutation_p.R874C|SMARCA4_uc010dxq.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxr.3_Missense_Mutation_p.R874C|SMARCA4_uc002mqj.4_Missense_Mutation_p.R874C|SMARCA4_uc010dxs.3_Missense_Mutation_p.R874C|SMARCA4_uc010dxt.1_Missense_Mutation_p.R94C|SMARCA4_uc002mqh.4_5'UTR|SMARCA4_uc002mqi.1_Missense_Mutation_p.R77C	NM_001128844	NP_003063	P51532	SMCA4_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4 (SMARCA4), transcript variant 2, mRNA.	874	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCCGCAGATCCGTTGGAAGTA	0.632			"F, N, Mis"		NSCLC								T	11132404	C	T	11132404	3	4	209	1	0	0	0	0	1	0	0	0	14864	652	23	1	2690	1	SMARCA4	19	11132404	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	737613	11132404	47996579	55	14383											
ZNF625	90589	broad.mit.edu	37	chr19	12256527	12256527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgagttctttcatgtattCgaaggctaccagaatgacta	11	14	9	7	1	2	3	1	2	1	1	3	4	2	3	1	1	1	3	1	1	5	6			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:12256527C>T	uc010dyo.2	-	3	877	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	ZNF20_uc002mtg.2_Intron|ZNF625_uc010dyn.2_Non-coding_Transcript|ZNF625_uc002mth.3_Missense_Mutation_p.R169Q|ZNF625_uc021upn.1_Missense_Mutation_p.R169Q	NM_145233	NP_660276	Q96I27	ZN625_HUMAN	Homo sapiens zinc finger protein 625 (ZNF625), transcript variant 1, mRNA.	169					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R169Q(2)		breast(1)|kidney(1)|large_intestine(6)|lung(4)|skin(2)	14						TTCATGTATTCGAAGGCTACC	0.408													T	12256527	C	T	12256527	3	4	209	1	0	0	0	0	1	0	0	0	18150	884	31	1	418	1	ZNF625	19	12256527	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	1124123	12256527	46872456	56	14384											
B3GNT3	10331	broad.mit.edu	37	chr19	17922705	17922705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttccccattgatgatgTcttcctgggtatgtgtctgg	5	16	10	10	0	3	2	0	2	3	0	5	2	5	2	3	2	0	1	3	2	1	4			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17922705T>C	uc002nhl.1	+	2	1040	c.893T>C	c.(892-894)gTc>gCc	p.V298A	B3GNT3_uc010ebd.1_Missense_Mutation_p.V298A|B3GNT3_uc010ebe.1_Missense_Mutation_p.V298A	NM_014256	NP_055071	Q9Y2A9	B3GN3_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3 (B3GNT3), mRNA.	298					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity	p.D297D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						ATTGATGATGTCTTCCTGGGT	0.632													C	17922705	T	C	17922705	3	2	209	1	0	0	0	0	1	0	0	0	1263	1667	58	3	899	3	B3GNT3	19	17922705	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	5666178	17922705	41206278	57	14385											
JAK3	3718	broad.mit.edu	37	chr19	17943330	17943330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccgggagctggctcacccGggccatagctgacaccacga	9	5	12	15	3	1	1	1	1	0	0	2	3	2	2	4	3	2	3	4	3	1	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:17943330G>A	uc002nhn.4	-	18	2778	c.2678C>T	c.(2677-2679)cCg>cTg	p.P893L	JAK3_uc010ebh.3_Intron|JAK3_uc002nho.2_Missense_Mutation_p.P893L	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	893	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						TGGCTCACCCGGGCCATAGCT	0.542		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								A	17943330	G	A	17943330	3	1	209	1	0	0	0	0	1	0	0	0	7997	1116	39	1	720	1	JAK3	19	17943330	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	20625	17943330	41185653	58	14386											
ZNF792	126375	broad.mit.edu	37	chr19	35449589	35449589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcactcatgggcacttctGcccgtatgaaccctcttatg	7	12	8	14	1	3	1	1	1	2	0	3	1	3	1	2	1	3	3	2	1	3	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:35449589G>A	uc002nxh.1	-	3	1557	c.1170C>T	c.(1168-1170)ggC>ggT	p.G390G		NM_175872	NP_787068	Q3KQV3	ZN792_HUMAN	Homo sapiens zinc finger protein 792 (ZNF792), mRNA.	390					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCACTTCTGCCCGTATGAA	0.468													A	35449589	G	A	35449589	2	1	209	1	0	0	0	0	0	0	0	1	18263	1306	46	2		2	ZNF792	19	35449589	Silent	SNP	G	TCGA-28-5207-01A-01D-1486-08	17506259	35449589	23679394	59	14387											
FCGBP	8857	broad.mit.edu	37	chr19	40360855	40360855	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccccaagcccctactcaCcggcaagtatcggccattat	10	7	6	18	2	1	0	1	0	0	0	2	0	1	0	7	2	2	2	7	2	5	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:40360855C>A	uc002omp.4	-	33	15560	c.15552_splice	c.e33+1	p.P5184_splice		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	5184	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCCCTACTCACCGGCAAGTAT	0.577													A	40360855	C	A	40360855	5	1	209	1	0	0	0	0	0	0	1	0	5827	521	18	4	680	4	FCGBP	19	40360855	Splice_Site	SNP	C	TCGA-28-5207-01A-01D-1486-08	4911266	40360855	18768128	60	14388											
C19orf48	84798	broad.mit.edu	37	chr19	51301380	51301380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcagctcccccaggattCtggcctgcttcacccctgga	6	8	11	16	0	2	0	1	0	1	0	3	3	3	3	5	4	3	3	5	4	0	2			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51301380C>A	uc002ptf.3	-	4	1248	c.326G>T	c.(325-327)aGa>aTa	p.R109I	C19orf48_uc002pte.3_Non-coding_Transcript|C19orf48_uc002ptg.3_Missense_Mutation_p.R109I|C19orf48_uc021uyh.1_Missense_Mutation_p.R109I	NM_199249	NP_954858	Q6RUI8	CS048_HUMAN	Homo sapiens chromosome 19 open reading frame 48 (C19orf48), mRNA.	109										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		CCCCAGGATTCTGGCCTGCTT	0.627													A	51301380	C	A	51301380	3	1	209	1	0	0	0	0	1	0	0	0	1950	913	32	4	31	4	C19orf48	19	51301380	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08	10940525	51301380	7827603	61	14389											
SIGLEC8	27181	broad.mit.edu	37	chr19	51960480	51960480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtcatggtcaagttccaagGagggtctgggacagaaagac	13	7	14	7	0	3	2	2	0	1	2	4	4	4	4	1	4	0	1	1	4	3	1			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr19:51960480G>C	uc002pwt.3	-	2	806	c.739C>G	c.(739-741)Cct>Gct	p.P247A	SIGLEC8_uc010yda.2_Intron|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.P154A	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	247	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		AAGTTCCAAGGAGGGTCTGGG	0.557													C	51960480	G	C	51960480	3	2	209	1	0	0	0	0	1	0	0	0	14408	1174	41	4	780	4	SIGLEC8	19	51960480	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	659100	51960480	7168503	62	14390											
ADRBK2	157	broad.mit.edu	37	chr22	26117315	26117315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaattaaagacaaaaaatGcattttgttcagaataaaag	21	11	5	4	0	2	2	2	0	0	2	2	2	2	2	0	0	1	2	0	0	9	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:26117315G>A	uc003abx.4	+	19	2003	c.1856G>A	c.(1855-1857)tGc>tAc	p.C619Y	ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	619	PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GACAAAAAATGCATTTTGTTC	0.274													A	26117315	G	A	26117315	3	1	209	1	0	0	0	0	1	0	0	0	344	1319	46	2	1934	2	ADRBK2	22	26117315	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08		26117315	25187251	63	14391											
DDX17	10521	broad.mit.edu	37	chr22	38883964	38883964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattggcctcttccagcactTtgataagctctctggcctgt	6	14	9	12	0	2	1	0	1	2	0	4	2	3	1	3	2	2	2	3	2	1	4			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chr22:38883964T>C	uc003avy.4	-	11	1707	c.1604A>G	c.(1603-1605)aAa>aGa	p.K535R	DDX17_uc003avw.4_5'UTR|DDX17_uc003avx.4_Missense_Mutation_p.K535R	NM_001098504	NP_001091974	Q92841	DDX17_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 17 (DDX17), transcript variant 3, mRNA.	456					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TTCCAGCACTTTGATAAGCTC	0.547													C	38883964	T	C	38883964	3	2	209	1	0	0	0	0	1	0	0	0	4378	1841	64	3	599	3	DDX17	22	38883964	Missense_Mutation	SNP	T	TCGA-28-5207-01A-01D-1486-08	12766649	38883964	12420602	64	14392											
PHF8	23133	broad.mit.edu	37	chrX	54037681	54037681	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagagagtcagattggCatttgttgggcggatcaggt	10	11	14	6	1	3	2	3	0	0	2	3	4	3	3	0	4	0	2	0	4	1	3			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:54037681C>G	uc004dsu.3	-	7	1174	c.928G>C	c.(928-930)Gcc>Ccc	p.A310P	PHF8_uc004dsv.3_Missense_Mutation_p.A140P|PHF8_uc004dst.3_Missense_Mutation_p.A274P|PHF8_uc004dsw.3_Missense_Mutation_p.A274P|PHF8_uc004dsx.3_Missense_Mutation_p.A38P|PHF8_uc004dsy.3_Missense_Mutation_p.A274P	NM_001184896	NP_055922	Q9UPP1	PHF8_HUMAN	Homo sapiens PHD finger protein 8 (PHF8), transcript variant 1, mRNA.	310	JmjC.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GTCAGATTGGCATTTGTTGGG	0.448													G	54037681	C	G	54037681	3	3	209	1	0	0	0	0	1	0	0	0	11917	710	25	4	2484	4	PHF8	23	54037681	Missense_Mutation	SNP	C	TCGA-28-5207-01A-01D-1486-08		54037681	101232879	65	14393											
MAGEE1	57692	broad.mit.edu	37	chrX	75649443	75649443	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtgccgcccaccgcctctGatggatcggacacctccgtg	5	8	11	17	4	1	1	0	1	1	0	3	3	2	3	6	2	1	0	6	2	0	0			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:75649443G>C	uc004ecm.2	+	0	1398	c.1120G>C	c.(1120-1122)Gat>Cat	p.D374H		NM_020932	NP_065983	Q9HCI5	MAGE1_HUMAN	Homo sapiens melanoma antigen family E, 1 (MAGEE1), mRNA.	374	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CACCGCCTCTGATGGATCGGA	0.677													C	75649443	G	C	75649443	3	2	209	1	0	0	0	0	1	0	0	0	9260	1290	45	4	1122	4	MAGEE1	23	75649443	Missense_Mutation	SNP	G	TCGA-28-5207-01A-01D-1486-08	21611762	75649443	79621117	66	14394											
RPA4	29935	broad.mit.edu	37	chrX	96139742	96139742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagccttgaggtattgaaaAttcatgtcctagaggacatg	13	11	11	6	0	1	4	1	2	0	2	2	5	2	5	2	2	1	1	2	2	4	5			TCGA-28-5207-01A-01D-1486-08	TCGA-28-5207-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d795a16-bdc3-44f0-8c01-6eeec0e1a0b1	63c46f25-e503-4b36-b770-3aca56209084	g.chrX:96139742A>G	uc004efv.4	+	0	836	c.433A>G	c.(433-435)Att>Gtt	p.I145V	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	145					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding	p.I145T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						GGTATTGAAAATTCATGTCCT	0.453								Other identified genes with known or suspected DNA repair function					G	96139742	A	G	96139742	3	3	209	1	0	0	0	0	1	0	0	0	13630	101	4	3	435	3	RPA4	23	96139742	Missense_Mutation	SNP	A	TCGA-28-5207-01A-01D-1486-08	20490299	96139742	59130818	67	14395											
TMEM61	199964	broad.mit.edu	37	chr1	55457654	55457654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctcagcacccagcccGcctggcctccacccagctat	6	6	7	22	1	1	0	1	0	0	0	2	0	2	0	7	1	4	3	7	1	1	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:55457654G>A	uc001cyd.3	+	2	785	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_182532	NP_872338	Q8N0U2	TMM61_HUMAN	Homo sapiens transmembrane protein 61 (TMEM61), mRNA.	171						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						CACCCAGCCCGCCTGGCCTCC	0.642													A	55457654	G	A	55457654	3	1	210	1	0	0	0	0	1	0	0	0	16288	1087	38	1	521	1	TMEM61	1	55457654	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		55457654	193792967	1	14396											
TTF2	8458	broad.mit.edu	37	chr1	117638845	117638845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagcatggactgacttatgCcaccatcgatggctctgtca	10	10	10	11	1	2	1	1	1	1	0	3	4	2	2	2	2	2	2	2	2	2	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:117638845C>T	uc001egy.3	+	19	3130	c.3110C>T	c.(3109-3111)gCc>gTc	p.A1037V		NM_003594	NP_003585	Q9UNY4	TTF2_HUMAN	Homo sapiens transcription termination factor, RNA polymerase II (TTF2), mRNA.	1037	Helicase C-terminal.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTGACTTATGCCACCATCGAT	0.458													T	117638845	C	T	117638845	3	4	210	1	0	0	0	0	1	0	0	0	16821	739	26	2	3188	2	TTF2	1	117638845	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	62181191	117638845	131611776	2	14397											
PI4KB	5298	broad.mit.edu	37	chr1	151271347	151271347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaactttgcacaaaattgCgctgtgcactgaggaatgcc	12	9	9	11	1	0	1	0	1	0	0	0	2	0	2	1	1	5	3	1	1	4	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:151271347C>T	uc001exr.3	-	9	2627	c.1988G>A	c.(1987-1989)cGc>cAc	p.R663H	PI4KB_uc001exs.3_Missense_Mutation_p.R636H|PI4KB_uc001exu.3_Missense_Mutation_p.R636H|PI4KB_uc010pcw.2_Missense_Mutation_p.R319H|PI4KB_uc001ext.3_Missense_Mutation_p.R651H	NM_002651	NP_001185704	Q9UBF8	PI4KB_HUMAN	Homo sapiens phosphatidylinositol 4-kinase, catalytic, beta (PI4KB), transcript variant 1, mRNA.	651	PI3K/PI4K.				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding	p.R663C(1)		breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CACAAAATTGCGCTGTGCACT	0.502													T	151271347	C	T	151271347	3	4	210	1	0	0	0	0	1	0	0	0	11951	768	27	1	514	1	PI4KB	1	151271347	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	33632502	151271347	97979274	3	14398											
HRNR	388697	broad.mit.edu	37	chr1	152188049	152188049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcctgatgcagaaccaTgttgcccatgggtagaggaa	11	9	12	9	0	0	3	0	1	0	2	1	4	1	4	3	2	3	3	3	2	3	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152188049T>G	uc001ezt.1	-	2	6132	c.6056A>C	c.(6055-6057)cAt>cCt	p.H2019P		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2019					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGAACCATGTTGCCCATG	0.552													G	152188049	T	G	152188049	3	3	210	1	0	0	0	0	1	0	0	0	7414	1464	51	5	2500	5	HRNR	1	152188049	Missense_Mutation	SNP	T	TCGA-28-5208-01A-01D-1486-08	916702	152188049	97062572	4	14399											
LCE5A	254910	broad.mit.edu	37	chr1	152484251	152484251	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccagtccctccgacgcCgacctcagagttccagctgc	6	6	9	20	4	1	1	1	0	0	1	4	3	4	1	7	0	2	2	7	0	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:152484251C>T	uc021oyx.1	+	0	241	c.241C>T	c.(241-243)Cga>Tga	p.R81*	LCE5A_uc001ezy.3_Nonsense_Mutation_p.R81*|CRCT1_uc001ezz.3_5'Flank	NM_178438	NP_848525	Q5TCM9	LCE5A_HUMAN	Homo sapiens late cornified envelope 5A (LCE5A), mRNA.	81	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCCGACGCCGACCTCAGAG	0.677													T	152484251	C	T	152484251	4	4	210	1	0	0	0	0	0	1	0	0	8734	644	23	1	243	1	LCE5A	1	152484251	Nonsense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	296202	152484251	96766370	5	14400											
ITLN1	55600	broad.mit.edu	37	chr1	160851913	160851913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgcacgctggccaccaggGtccagccgccacccccagag	7	3	12	19	3	0	1	0	0	0	1	1	1	1	1	7	2	2	2	7	2	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:160851913G>T	uc001fxc.3	-	3	355	c.239C>A	c.(238-240)aCc>aAc	p.T80N		NM_017625	NP_060095	Q8WWA0	ITLN1_HUMAN	Homo sapiens intelectin 1 (galactofuranose binding) (ITLN1), mRNA.	80	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGCCACCAGGGTCCAGCCGCC	0.592													T	160851913	G	T	160851913	3	4	210	1	0	0	0	0	1	0	0	0	7968	1261	44	4	722	4	ITLN1	1	160851913	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	8367662	160851913	88398708	6	14401											
WNT9A	7483	broad.mit.edu	37	chr1	228112065	228112065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcgtgcgtcaggccagccGaggagatggcatagaggaag	10	5	18	8	3	1	2	1	0	0	2	1	5	1	3	2	4	3	1	2	4	2	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:228112065G>A	uc001hri.2	-	2	477	c.389C>T	c.(388-390)tCg>tTg	p.S130L		NM_003395	NP_003386	O14904	WNT9A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 9A (WNT9A), mRNA.	130					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				CAGGCCAGCCGAGGAGATGGC	0.662													A	228112065	G	A	228112065	3	1	210	1	0	0	0	0	1	0	0	0	17500	1059	37	1	716	1	WNT9A	1	228112065	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	67260152	228112065	21138556	7	14402											
NLRP3	114548	broad.mit.edu	37	chr1	247587155	247587155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctttgccgtagattaccGtaagaagtacagaaagtacg	13	11	10	7	3	1	3	0	0	1	3	1	3	1	3	2	0	4	4	2	0	7	6	rs138946894	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr1:247587155G>A	uc001icr.3	+	4	548	c.410G>A	c.(409-411)cGt>cAt	p.R137H	NLRP3_uc001ics.3_Missense_Mutation_p.R137H|NLRP3_uc001icu.3_Missense_Mutation_p.R137H|NLRP3_uc001icw.3_Missense_Mutation_p.R137H|NLRP3_uc001icv.3_Missense_Mutation_p.R137H|NLRP3_uc010pyw.2_Missense_Mutation_p.R135H|NLRP3_uc001ict.1_Missense_Mutation_p.R135H	NM_001079821	NP_001230062	Q96P20	NALP3_HUMAN	Homo sapiens NLR family, pyrin domain containing 3 (NLRP3), transcript variant 3, mRNA.	137					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			GTAGATTACCGTAAGAAGTAC	0.507													A	247587155	G	A	247587155	3	1	210	1	0	0	0	0	1	0	0	0	10554	1145	40	1	420	1	NLRP3	1	247587155	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	19475090	247587155	1663466	8	14403											
SNTG2	54221	broad.mit.edu	37	chr2	1168837	1168837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccctctttgacagcGgtttgcatctgaacggaaac	8	11	8	14	2	3	2	0	2	3	0	4	3	3	3	3	2	4	2	3	2	2	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:1168837G>A	uc002qwq.3	+	7	688	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	SNTG2_uc010ewi.3_Intron	NM_018968	NP_061841	Q9NY99	SNTG2_HUMAN	Homo sapiens syntrophin, gamma 2 (SNTG2), mRNA.	187					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.G187S(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CTTTGACAGCGGTTTGCATCT	0.468													A	1168837	G	A	1168837	3	1	210	1	0	0	0	0	1	0	0	0	14969	1116	39	1	589	1	SNTG2	2	1168837	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		1168837	242030536	9	14404											
ABCG5	64240	broad.mit.edu	37	chr2	44051252	44051252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaccaagtttcttgtcActctcctgaaaacaaacaac	13	12	3	13	0	4	1	2	1	3	0	6	1	4	1	2	0	3	1	2	0	5	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:44051252A>G	uc002rtn.3	-	8	1264	c.1124T>C	c.(1123-1125)gTg>gCg	p.V375A	ABCG5_uc002rtm.3_5'UTR|ABCG5_uc002rto.3_Missense_Mutation_p.V204A|ABCG5_uc002rtp.3_5'UTR	NM_022436	NP_071881	Q9H222	ABCG5_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 5 (ABCG5), mRNA.	375					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GTTTCTTGTCACTCTCCTGAA	0.433													G	44051252	A	G	44051252	3	3	210	1	0	0	0	0	1	0	0	0	71	159	6	3	851	3	ABCG5	2	44051252	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	42882415	44051252	199148121	10	14405											
APLF	200558	broad.mit.edu	37	chr2	68729870	68729870	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatttgttagatacacaCaaatccatgtttttaccagt	13	17	4	7	0	0	1	0	0	0	1	1	1	1	1	2	0	2	2	2	0	5	8			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:68729870C>G	uc002sep.3	+	2	349	c.176C>G	c.(175-177)aCa>aGa	p.T59R	APLF_uc010fdf.2_Missense_Mutation_p.T35R	NM_173545	NP_775816	Q8IW19	APLF_HUMAN	Homo sapiens aprataxin and PNKP like factor (APLF), mRNA.	59	FHA-like.				double-strand break repair|single strand break repair	cytosol|nucleus	3'-5' exonuclease activity|DNA-(apurinic or apyrimidinic site) lyase activity|endodeoxyribonuclease activity|metal ion binding|nucleotide binding|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	25						TAGATACACACAAATCCATGT	0.264													G	68729870	C	G	68729870	3	3	210	1	0	0	0	0	1	0	0	0	778	478	17	4	186	4	APLF	2	68729870	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	24678618	68729870	174469503	11	14406											
ALPPL2	251	broad.mit.edu	37	chr2	233274393	233274393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgcacctggttcacggCgtgcaggagcagaccttcat	8	7	13	13	3	2	1	2	0	0	1	2	2	2	2	2	4	2	4	2	4	0	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr2:233274393C>T	uc002vss.4	+	10	1463	c.1410C>T	c.(1408-1410)ggC>ggT	p.G470G		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	470					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGGTTCACGGCGTGCAGGAGC	0.716													T	233274393	C	T	233274393	2	4	210	1	0	0	0	0	0	0	0	1	549	755	27	1		1	ALPPL2	2	233274393	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	164544523	233274393	9924980	12	14407											
SETD2	29072	broad.mit.edu	37	chr3	47098909	47098909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgctcaaacaacttcCggcgttcctctgtagaaagt	9	12	7	13	2	3	1	1	0	2	1	5	1	5	1	3	1	3	3	3	1	4	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:47098909C>T	uc003cqv.3	-	15	6652	c.6566G>A	c.(6565-6567)cGg>cAg	p.R2189Q	SETD2_uc003cqs.3_Missense_Mutation_p.R2122Q|SETD2_uc003cqt.1_Non-coding_Transcript	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	2122	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACAACTTCCGGCGTTCCTC	0.423			"N, F, S, Mis"		clear cell renal carcinoma								T	47098909	C	T	47098909	3	4	210	1	0	0	0	0	1	0	0	0	14224	652	23	1	1357	1	SETD2	3	47098909	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		47098909	150923521	13	14408											
ABHD14A	25864	broad.mit.edu	37	chr3	52014464	52014464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagaggcagggcgggcagcGctgctggagcgggcgctgcg	6	3	21	11	5	0	1	0	0	0	1	0	2	0	2	0	5	4	5	0	5	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:52014464G>A	uc003dco.3	+	3	563	c.453G>A	c.(451-453)gcG>gcA	p.A151A	ABHD14B_uc003dcn.3_Intron|ACY1_uc011bea.2_Intron|ACY1_uc011beb.2_5'Flank|ACY1_uc003dcp.3_5'Flank|ACY1_uc003dcq.3_5'Flank|ACY1_uc021wzb.1_5'Flank|ACY1_uc021wzc.1_5'Flank|ACY1_uc021wzd.1_5'Flank	NM_015407	NP_056222	Q9BUJ0	ABHEA_HUMAN	Homo sapiens abhydrolase domain containing 14A (ABHD14A), mRNA.	151						cytoplasm|integral to membrane	hydrolase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GGCGGGCAGCGCTGCTGGAGC	0.652													A	52014464	G	A	52014464	2	1	210	1	0	0	0	0	0	0	0	1	79	1074	38	1		1	ABHD14A	3	52014464	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	4915555	52014464	146007966	14	14409											
CACNA2D3	55799	broad.mit.edu	37	chr3	55107854	55107854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccagaagatcagaaggCgcccagaatcttgtcatggc	12	6	12	11	1	3	4	2	0	1	4	3	4	3	4	2	3	0	0	2	3	3	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:55107854C>T	uc003dhf.3	+	36	3199	c.3151C>T	c.(3151-3153)Cgc>Tgc	p.R1051C		NM_018398	NP_060868	Q8IZS8	CA2D3_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 3 (CACNA2D3), mRNA.	1051						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.R1051K(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GATCAGAAGGCGCCCAGAATC	0.448													T	55107854	C	T	55107854	3	4	210	1	0	0	0	0	1	0	0	0	2576	768	27	1	3297	1	CACNA2D3	3	55107854	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3093390	55107854	142914576	15	14410											
SENP7	57337	broad.mit.edu	37	chr3	101136587	101136587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagggtctttctgaattttCgtcctaaatccgtccatagg	8	15	9	9	2	2	1	0	1	2	0	6	1	5	1	3	2	0	1	3	2	5	6			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr3:101136587C>T	uc003dut.3	-	4	443	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	SENP7_uc003duu.3_Missense_Mutation_p.R111Q|SENP7_uc003duv.3_Missense_Mutation_p.R78Q|SENP7_uc003duw.3_Intron|SENP7_uc003dux.3_Intron	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	111					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCTGAATTTTCGTCCTAAATC	0.378													T	101136587	C	T	101136587	3	4	210	1	0	0	0	0	1	0	0	0	14144	884	31	1	2900	1	SENP7	3	101136587	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	46028733	101136587	96885843	16	14411											
MMRN1	22915	broad.mit.edu	37	chr4	90857233	90857233	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatataactttgttttgcAagtcgccaagacccttgcag	11	12	9	9	1	0	2	0	0	0	2	1	3	0	2	2	0	3	3	2	0	4	6			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr4:90857233A>C	uc003hst.3	+	5	2473	c.2402A>C	c.(2401-2403)cAa>cCa	p.Q801P	MMRN1_uc010iku.3_Intron|MMRN1_uc011cds.2_Missense_Mutation_p.Q543P	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	801					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TTTGTTTTGCAAGTCGCCAAG	0.378													C	90857233	A	C	90857233	3	2	210	1	0	0	0	0	1	0	0	0	9746	130	5	5	2424	5	MMRN1	4	90857233	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		90857233	100297043	17	14412											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167729	140167729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggcagcaggcggcgcGcgcatcccgttccgcgtggg	4	4	17	16	8	0	0	0	0	0	0	2	0	2	0	3	4	2	4	3	4	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140167729G>A	uc003lhb.2	+	0	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Silent_p.A618A	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	629	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGCGGCGCGCGCATCCCGT	0.667													A	140167729	G	A	140167729	2	1	210	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140167729	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08		140167729	40747531	18	14413											
PCDHB12	56124	broad.mit.edu	37	chr5	140590288	140590288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagaacgcctggctgtcGtaccagctgctcaaggccac	8	6	12	15	2	1	1	1	0	0	1	2	1	1	1	4	3	4	4	4	3	3	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140590288G>A	uc003liz.3	+	0	1998	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	PCDHB12_uc011dak.2_Silent_p.S266S	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	603	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGGCTGTCGTACCAGCTGC	0.721													A	140590288	G	A	140590288	2	1	210	1	0	0	0	0	0	0	0	1	11613	1132	40	1		1	PCDHB12	5	140590288	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	422559	140590288	40324972	19	14414											
PCDHGC5	56111	broad.mit.edu	37	chr5	140736435	140736435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttgtgctggaccagaaCgacaatgtccctgagatcct	9	11	9	12	1	1	2	0	1	1	2	3	5	3	3	3	1	2	1	3	1	2	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr5:140736435C>T	uc003ljq.2	+	0	1668	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljp.1_Silent_p.N556N	NM_018917	NP_061740	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 4 (PCDHGA4), transcript variant 1, mRNA.	558	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACCAGAACGACAATGTCC	0.577													T	140736435	C	T	140736435	2	4	210	1	0	0	0	0	0	0	0	1	11647	535	19	1		1	PCDHGC5	5	140736435	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	146147	140736435	40178825	20	14415											
NOTCH4	4855	broad.mit.edu	37	chr6	32172007	32172007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagggctggtccagacactCgtccacgtctccctcacagc	7	7	10	17	2	2	1	1	0	1	1	6	1	4	1	3	2	1	2	3	2	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:32172007C>T	uc003obb.3	-	18	3164	c.3025G>A	c.(3025-3027)Gag>Aag	p.E1009K	NOTCH4_uc003oba.3_5'Flank|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1009	EGF-like 26.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TCCAGACACTCGTCCACGTCT	0.612													T	32172007	C	T	32172007	3	4	210	1	0	0	0	0	1	0	0	0	10627	893	31	1	3034	1	NOTCH4	6	32172007	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		32172007	138943060	21	14416											
QKI	9444	broad.mit.edu	37	chr6	163899821	163899821	+	Frame_Shift_Del	DEL	G	G	-																															ttttttctcagtttaattttGttgggagaatccttggacct																										TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr6:163899821delG	uc003qui.3	+	2	846	c.295delG	c.(295-297)gttfs	p.V99fs	QKI_uc003quj.3_Frame_Shift_Del_p.V99fs|QKI_uc003quh.3_Frame_Shift_Del_p.V99fs|QKI_uc003que.3_Frame_Shift_Del_p.V99fs|QKI_uc003quf.3_Frame_Shift_Del_p.V99fs|QKI_uc003qug.3_Frame_Shift_Del_p.V99fs	NM_006775	NP_006766	Q96PU8	QKI_HUMAN	Homo sapiens QKI, KH domain containing, RNA binding (QKI), transcript variant 1, mRNA.	99	KH.				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		GTTTAATTTTGTTGGGAGAAT	0.358													-	163899821	G	-	163899821	7	5	210	1	0	1	0	1	0	0	0	0	12961	1377	48	0	305	0	QKI	6	163899821	Frame_Shift_Del	DEL	G	TCGA-28-5208-01A-01D-1486-08	131727814	163899821	7215246	22	14417											
ANLN	54443	broad.mit.edu	37	chr7	36459856	36459856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaaccaggaaaattccaaAgaactcgtgtccctcgagct	15	7	7	12	2	0	1	0	0	0	1	4	3	2	2	3	1	3	1	3	1	6	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:36459856A>G	uc003tff.3	+	10	2152	c.1948A>G	c.(1948-1950)Aga>Gga	p.R650G	ANLN_uc011kaz.2_Missense_Mutation_p.R562G|ANLN_uc003tfg.3_Missense_Mutation_p.R613G|ANLN_uc010kxe.3_Missense_Mutation_p.R612G	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	650	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	p.Q649R(1)		breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAAATTCCAAAGAACTCGTGT	0.433													G	36459856	A	G	36459856	3	3	210	1	0	0	0	0	1	0	0	0	694	64	3	3	1990	3	ANLN	7	36459856	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		36459856	122678807	23	14418											
CACNA2D1	781	broad.mit.edu	37	chr7	81799924	81799924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgcttccaatgccaggCgctgaaaaacaaacaataaa	16	7	6	12	2	1	1	0	1	1	0	3	1	2	1	3	1	3	2	3	1	7	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:81799924C>T	uc003uhr.1	-	4	551	c.295_splice	c.e4-1	p.R99_splice		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	99				R -> S (in Ref. 1; AAA51903).		voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAATGCCAGGCGCTGAAAAAC	0.348													T	81799924	C	T	81799924	3	4	210	1	0	0	0	0	1	0	0	0	2574	782	27	1	3123	1	CACNA2D1	7	81799924	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	45340068	81799924	77338739	24	14419											
PCLO	27445	broad.mit.edu	37	chr7	82784341	82784341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctaggctgttgagctgagGgttttgctgagccaggctgt	5	12	17	7	0	0	3	0	3	0	0	0	3	0	3	1	4	3	7	1	4	1	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:82784341G>T	uc003uhx.2	-	1	1905	c.1616C>A	c.(1615-1617)cCc>cAc	p.P539H	PCLO_uc003uhv.2_Missense_Mutation_p.P539H	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	485	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.P539P(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGAGCTGAGGGTTTTGCTGA	0.547													T	82784341	G	T	82784341	3	4	210	1	0	0	0	0	1	0	0	0	11659	1232	43	4	13925	4	PCLO	7	82784341	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	984417	82784341	76354322	25	14420											
SAMD9L	219285	broad.mit.edu	37	chr7	92763758	92763758	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgtggttctagaggtttAtatgtctcgcttttcaggtc	8	17	10	6	1	3	1	1	0	2	1	5	1	3	1	0	3	0	3	0	3	4	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr7:92763758A>C	uc003umh.1	-	4	2743	c.1527T>G	c.(1525-1527)taT>taG	p.Y509*	SAMD9L_uc003umj.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umi.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfb.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc003umk.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfc.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc010lfd.1_Nonsense_Mutation_p.Y509*|SAMD9L_uc022ahh.1_Nonsense_Mutation_p.Y509*	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	509										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTAGAGGTTTATATGTCTCGC	0.378													C	92763758	A	C	92763758	4	2	210	1	0	0	0	0	0	1	0	0	13918	456	16	5	3231	5	SAMD9L	7	92763758	Nonsense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	9979417	92763758	66374905	26	14421											
TPD52L3	89882	broad.mit.edu	37	chr9	6328761	6328761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagcagccaaagagagaCgctgtggggaactcaagagg	14	5	14	8	1	1	3	1	0	0	3	1	5	1	4	1	3	4	2	1	3	5	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:6328761C>T	uc003zjw.3	+	0	413	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	TPD52L3_uc003zjv.3_Missense_Mutation_p.R56C|TPD52L3_uc003zjx.2_Missense_Mutation_p.R56C	NM_033516	NP_277051	Q96J77	TPD55_HUMAN	Homo sapiens tumor protein D52-like 3 (TPD52L3), transcript variant 1, mRNA.	56							protein binding	p.R56C(3)|p.R56L(1)		large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		CAAAGAGAGACGCTGTGGGGA	0.512													T	6328761	C	T	6328761	3	4	210	1	0	0	0	0	1	0	0	0	16501	536	19	1	168	1	TPD52L3	9	6328761	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		6328761	134884670	27	14422											
TMEM215	401498	broad.mit.edu	37	chr9	32784670	32784670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgtccagatacctggaCggctactgcccctcgggcag	8	6	13	14	3	0	2	0	0	0	2	2	4	1	3	4	3	3	2	4	3	2	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:32784670C>T	uc022bfh.1	+	0	489	c.489C>T	c.(487-489)gaC>gaT	p.D163D	TMEM215_uc003zri.4_Silent_p.D163D	NM_212558	NP_997723	Q68D42	TM215_HUMAN	Homo sapiens transmembrane protein 215 (TMEM215), mRNA.	163						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						GATACCTGGACGGCTACTGCC	0.602													T	32784670	C	T	32784670	2	4	210	1	0	0	0	0	0	0	0	1	16238	535	19	1		1	TMEM215	9	32784670	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	26455909	32784670	108428761	28	14423											
TRPM6	140803	broad.mit.edu	37	chr9	77423011	77423011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttctagtgtagttgctgCgatatgctctaccaatgagg	8	15	11	7	1	2	1	0	1	2	0	2	2	2	1	1	1	4	5	1	1	5	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:77423011C>T	uc004ajl.1	-	13	1815	c.1577G>A	c.(1576-1578)cGc>cAc	p.R526H	TRPM6_uc004ajk.1_Missense_Mutation_p.R521H|TRPM6_uc022bib.1_Missense_Mutation_p.R521H|TRPM6_uc010mpb.1_Non-coding_Transcript|TRPM6_uc010mpc.1_Missense_Mutation_p.R526H|TRPM6_uc010mpd.1_Intron|TRPM6_uc010mpe.1_Intron	NM_017662	NP_060132	Q9BX84	TRPM6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 6 (TRPM6), transcript variant a, mRNA.	526					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGTTGCTGCGATATGCTCT	0.388													T	77423011	C	T	77423011	3	4	210	1	0	0	0	0	1	0	0	0	16691	768	27	1	4595	1	TRPM6	9	77423011	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	44638341	77423011	63790420	29	14424											
FGD3	89846	broad.mit.edu	37	chr9	95792189	95792189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactatcctctaagaccagaCgtgacaaggagaagcagagc	16	5	10	10	1	1	5	0	1	1	4	2	6	2	5	2	1	3	1	2	1	5	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr9:95792189C>T	uc004asz.2	+	14	2119	c.1591C>T	c.(1591-1593)Cgt>Tgt	p.R531C	FGD3_uc004asw.2_Missense_Mutation_p.R531C|FGD3_uc004asx.2_Missense_Mutation_p.R531C|FGD3_uc011luc.1_Missense_Mutation_p.R134C	NM_033086	NP_149077	Q5JSP0	FGD3_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 3 (FGD3), transcript variant 2, mRNA.	531					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						TAAGACCAGACGTGACAAGGA	0.537													T	95792189	C	T	95792189	3	4	210	1	0	0	0	0	1	0	0	0	5883	536	19	1	1641	1	FGD3	9	95792189	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	18369178	95792189	45421242	30	14425											
ODF3	113746	broad.mit.edu	37	chr11	197577	197577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcttcatgaagcacacGcccaccaagctgcgtgcacc	11	5	9	16	2	1	1	1	1	0	0	1	1	1	1	3	1	4	4	3	1	2	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:197577G>A	uc001lob.3	+	2	420	c.126G>A	c.(124-126)acG>acA	p.T42T	ODF3_uc010qvk.2_Silent_p.T42T|ODF3_uc001loc.3_Silent_p.T42T	NM_053280	NP_444510	Q96PU9	ODF3A_HUMAN	Homo sapiens outer dense fiber of sperm tails 3 (ODF3), mRNA.	42					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm		p.T42T(2)		biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		TGAAGCACACGCCCACCAAGC	0.652													A	197577	G	A	197577	2	1	210	1	0	0	0	0	0	0	0	1	10905	1074	38	1		1	ODF3	11	197577	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08		197577	134808939	31	14426											
APBB1	322	broad.mit.edu	37	chr11	6423823	6423823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccccccagcccccagAcatggggtcatgcaggttgt	7	9	10	15	0	1	1	1	0	0	1	2	1	2	1	5	3	3	2	5	3	1	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:6423823A>G	uc001mdb.1	-	6	1337	c.1237T>C	c.(1237-1239)Tct>Cct	p.S413P	APBB1_uc001mdd.3_Missense_Mutation_p.S193P|APBB1_uc001mdc.1_Missense_Mutation_p.S413P|APBB1_uc010rab.2_5'Flank|APBB1_uc010rad.2_Missense_Mutation_p.S34P|APBB1_uc010rae.1_Missense_Mutation_p.S178P|APBB1_uc009yey.2_Missense_Mutation_p.S154P|APBB1_uc009yfa.2_Missense_Mutation_p.S154P|APBB1_uc010rag.1_Missense_Mutation_p.S154P|APBB1_uc009yfb.2_Missense_Mutation_p.S154P|APBB1_uc001mde.2_Missense_Mutation_p.S154P|APBB1_uc010rah.1_Missense_Mutation_p.S154P	NM_001164	NP_001155	O00213	APBB1_HUMAN	Homo sapiens amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65) (APBB1), transcript variant 1, mRNA.	413	PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		CAGCCCCCAGACATGGGGTCA	0.582													G	6423823	A	G	6423823	3	3	210	1	0	0	0	0	1	0	0	0	761	275	10	3	927	3	APBB1	11	6423823	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	6226246	6423823	128582693	32	14427											
OR5D16	390144	broad.mit.edu	37	chr11	55606713	55606713	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttccctgacactcgcGtgctctgctttaaagttatc	7	14	8	12	2	1	1	0	1	1	0	4	1	2	1	1	0	2	5	1	0	3	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55606713G>A	uc010rio.2	+	0	486	c.486G>A	c.(484-486)gcG>gcA	p.A162A		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A162T(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGACACTCGCGTGCTCTGCTT	0.453													A	55606713	G	A	55606713	2	1	210	1	0	0	0	0	0	0	0	1	11232	1132	40	1		1	OR5D16	11	55606713	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	49182890	55606713	79399803	33	14428											
OR8H3	390152	broad.mit.edu	37	chr11	55890211	55890211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctcaatggcctatgaTcgctatgcagcgatctgcag	8	11	9	13	2	3	1	1	1	2	0	5	2	3	1	2	1	3	3	2	1	3	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:55890211T>G	uc001nii.1	+	0	363	c.363T>G	c.(361-363)gaT>gaG	p.D121E		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCCTATGATCGCTATGCAG	0.468													G	55890211	T	G	55890211	3	3	210	1	0	0	0	0	1	0	0	0	11315	1432	50	5	365	5	OR8H3	11	55890211	Missense_Mutation	SNP	T	TCGA-28-5208-01A-01D-1486-08	283498	55890211	79116305	34	14429											
TCN1	6947	broad.mit.edu	37	chr11	59630133	59630133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatattaagttttcctcagCgttacgacatactcccaaag	13	13	5	10	2	1	0	1	0	0	0	3	1	3	0	2	0	3	2	2	0	6	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:59630133C>T	uc001noj.2	-	2	420	c.322G>A	c.(322-324)Gct>Act	p.A108T		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	108					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding	p.A108S(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTTTCCTCAGCGTTACGACAT	0.358													T	59630133	C	T	59630133	3	4	210	1	0	0	0	0	1	0	0	0	15806	768	27	1	1007	1	TCN1	11	59630133	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3739922	59630133	75376383	35	14430											
AHNAK	79026	broad.mit.edu	37	chr11	62284308	62284308	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagaagaggaggacagtcGggacttcttagaggccaggg	11	6	17	7	1	1	3	0	0	1	3	2	6	1	6	1	5	0	1	1	5	3	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:62284308G>A	uc001ntl.3	-	4	17881	c.17581C>T	c.(17581-17583)Cga>Tga	p.R5861*	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	5861					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAGGACAGTCGGGACTTCTTA	0.522													A	62284308	G	A	62284308	4	1	210	1	0	0	0	0	0	1	0	0	414	1124	39	1	211	1	AHNAK	11	62284308	Nonsense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	2654175	62284308	72722208	36	14431											
TECTA	7007	broad.mit.edu	37	chr11	120983846	120983846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaccctcttcaattattaCgaaatcaactggaccacggg	12	11	6	12	2	4	0	3	0	1	0	4	2	4	1	2	2	2	0	2	2	5	4	rs148364865	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:120983846C>T	uc010rzo.2	+	3	552	c.552C>T	c.(550-552)taC>taT	p.Y184Y		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	184	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TCAATTATTACGAAATCAACT	0.567											OREG0021430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120983846	C	T	120983846	2	4	210	1	0	0	0	0	0	0	0	1	15847	547	19	1		1	TECTA	11	120983846	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	58699538	120983846	14022670	37	14432											
OR4D5	219875	broad.mit.edu	37	chr11	123811110	123811110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtctatacaaggccttttCggacattccccatggacaag	11	10	8	12	2	1	0	0	0	1	0	3	2	2	2	3	3	1	0	3	3	4	5	rs141929562		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr11:123811110C>T	uc001pzk.1	+	0	787	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AAGGCCTTTTCGGACATTCCC	0.512													T	123811110	C	T	123811110	3	4	210	1	0	0	0	0	1	0	0	0	11133	875	31	1	789	1	OR4D5	11	123811110	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	2827264	123811110	11195406	38	14433											
ATN1	1822	broad.mit.edu	37	chr12	7047759	7047759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccccctacctgggtcCtgacactccagccttgcgca	6	8	9	18	1	0	1	0	1	0	0	2	1	2	1	7	1	4	1	7	1	1	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:7047759C>T	uc001qrw.1	+	6	2870	c.2633C>T	c.(2632-2634)cCt>cTt	p.P878L	ATN1_uc001qrx.1_Missense_Mutation_p.P878L	NM_001007026	NP_001931	P54259	ATN1_HUMAN	Homo sapiens atrophin 1 (ATN1), transcript variant 1, mRNA.	878					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TACCTGGGTCCTGACACTCCA	0.632											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7047759	C	T	7047759	3	4	210	1	0	0	0	0	1	0	0	0	1116	681	24	2	2655	2	ATN1	12	7047759	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		7047759	126804136	39	14434											
SLC26A10	65012	broad.mit.edu	37	chr12	58014190	58014190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacttctttcttccccGtcctcatctacagcttgcta	6	16	3	16	1	5	0	1	0	4	0	7	0	7	0	3	0	4	2	3	0	3	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:58014190G>A	uc001spe.3	+	0	498	c.187G>A	c.(187-189)Gtc>Atc	p.V63I	BC073932_uc001spc.3_5'Flank|SLC26A10_uc001spf.3_Non-coding_Transcript	NM_133489	NP_597996	Q8NG04	S2610_HUMAN	Homo sapiens solute carrier family 26, member 10 (SLC26A10), mRNA.	63						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					TTTCTTCCCCGTCCTCATCTA	0.537													A	58014190	G	A	58014190	3	1	210	1	0	0	0	0	1	0	0	0	14609	1145	40	1	189	1	SLC26A10	12	58014190	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	50966431	58014190	75837705	40	14435											
NOS1	4842	broad.mit.edu	37	chr12	117723944	117723944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctgcccacacagcGcgaggcattccgccaggcgt	7	6	12	16	4	0	0	0	0	0	0	2	2	2	1	4	3	2	1	4	3	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:117723944G>A	uc001twn.2	-	5	1966	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NOS1_uc021ren.1_Missense_Mutation_p.R83C|NOS1_uc021reo.1_Missense_Mutation_p.R83C|NOS1_uc001twm.2_Missense_Mutation_p.R419C	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	419					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCCACACAGCGCGAGGCATTC	0.557													A	117723944	G	A	117723944	3	1	210	1	0	0	0	0	1	0	0	0	10617	1087	38	1	3145	1	NOS1	12	117723944	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	59709754	117723944	16127951	41	14436											
KDM2B	84678	broad.mit.edu	37	chr12	121890960	121890960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgcagctctgcttcatgCgcccggggcccccgaacttc	5	9	11	16	3	2	1	1	1	1	0	3	2	2	1	3	2	5	3	3	2	1	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr12:121890960C>T	uc001uat.3	-	12	2026	c.1922G>A	c.(1921-1923)cGc>cAc	p.R641H	KDM2B_uc010szy.2_Missense_Mutation_p.R81H|KDM2B_uc001uaq.3_Missense_Mutation_p.R81H|KDM2B_uc001uar.3_Missense_Mutation_p.R232H|KDM2B_uc001uas.3_Missense_Mutation_p.R610H|KDM2B_uc021rfd.1_Missense_Mutation_p.R610H|KDM2B_uc001uau.3_Missense_Mutation_p.R524H|KDM2B_uc021rfe.1_Missense_Mutation_p.R641H	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	641					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGCTTCATGCGCCCGGGGCC	0.706													T	121890960	C	T	121890960	3	4	210	1	0	0	0	0	1	0	0	0	8183	768	27	1	2184	1	KDM2B	12	121890960	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	4167016	121890960	11960935	42	14437											
KBTBD6	89890	broad.mit.edu	37	chr13	41705212	41705212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatagtctcgaattaccattAggtcaaaggataaaaaagaa	19	9	8	5	1	2	1	1	0	1	1	3	4	2	2	1	2	1	0	1	2	9	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr13:41705212A>G	uc001uxu.1	-	0	1725	c.1436T>C	c.(1435-1437)cTa>cCa	p.L479P	AK056182_uc001uxv.1_5'Flank	NM_152903	NP_690867	Q86V97	KBTB6_HUMAN	Homo sapiens kelch repeat and BTB (POZ) domain containing 6 (KBTBD6), mRNA.	479							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		AATTACCATTAGGTCAAAGGA	0.433													G	41705212	A	G	41705212	3	3	210	1	0	0	0	0	1	0	0	0	8055	420	15	3	592	3	KBTBD6	13	41705212	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08		41705212	73464666	43	14438											
TSHR	7253	broad.mit.edu	37	chr14	81610025	81610025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaggcacgcatgtgccatCatggttgggggctgggtttg	5	11	16	9	1	2	0	2	0	0	0	2	0	2	0	1	5	1	5	1	5	0	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:81610025C>T	uc001xvd.1	+	9	1779	c.1623C>T	c.(1621-1623)atC>atT	p.I541I		NM_000369	NP_000360	P16473	TSHR_HUMAN	Homo sapiens thyroid stimulating hormone receptor (TSHR), transcript variant 1, mRNA.	541					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CATGTGCCATCATGGTTGGGG	0.587			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						T	81610025	C	T	81610025	2	4	210	1	0	0	0	0	0	0	0	1	16723	816	29	2		2	TSHR	14	81610025	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08		81610025	25739515	44	14439											
ASB2	51676	broad.mit.edu	37	chr14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgatgatgggccccGcccagcggctcacctctggg	6	6	14	15	3	2	1	1	1	1	0	3	3	2	2	4	4	1	1	4	4	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr14:94404157G>A	uc001ycd.3	-	8	2028	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	ASB2_uc001ycb.2_Missense_Mutation_p.A199V|ASB2_uc001ycc.2_Missense_Mutation_p.A505V|ASB2_uc001yce.1_Missense_Mutation_p.A451V	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	505	SOCS box.				intracellular signal transduction			p.R553Q(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597													A	94404157	G	A	94404157	3	1	210	1	0	0	0	0	1	0	0	0	1028	1087	38	1	257	1	ASB2	14	94404157	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	12794132	94404157	12945383	45	14440											
MGA	23269	broad.mit.edu	37	chr15	42058284	42058284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggtagatatgggtggCagcaaatatcctcatgaagt	11	12	13	5	0	1	2	1	1	0	1	2	2	2	2	1	4	1	4	1	4	5	4			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:42058284C>T	uc010ucy.2	+	23	8185	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	MGA_uc010ucz.2_Silent_p.G2459G	NM_001164273	NP_001157745	Q8IWI9	MGAP_HUMAN	Homo sapiens MAX gene associated (MGA), transcript variant 1, mRNA.	2629						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ATATGGGTGGCAGCAAATATC	0.393													T	42058284	C	T	42058284	2	4	210	1	0	0	0	0	0	0	0	1	9615	697	25	2		2	MGA	15	42058284	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08		42058284	60473108	46	14441											
EIF3J	8669	broad.mit.edu	37	chr15	44849840	44849840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcttagttcgagatgtgtGtatttcatgtaagtaattct	10	18	9	4	1	3	1	1	0	2	1	4	2	3	1	0	0	0	4	0	0	4	7			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:44849840G>A	uc001ztv.3	+	5	690	c.563G>A	c.(562-564)tGt>tAt	p.C188Y	EIF3J_uc010ueg.2_Intron	NM_003758	NP_003749	O75822	EIF3J_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit J (EIF3J), mRNA.	188						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)		CGAGATGTGTGTATTTCATGT	0.313													A	44849840	G	A	44849840	3	1	210	1	0	0	0	0	1	0	0	0	5061	1377	48	2	585	2	EIF3J	15	44849840	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	2791556	44849840	57681552	47	14442											
MORF4L1	10933	broad.mit.edu	37	chr15	79183885	79183885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagcctcctcggaagaaaAgggcccgggtagatcctact	10	7	11	13	2	1	2	1	0	0	2	4	3	3	3	4	3	2	1	4	3	5	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr15:79183885A>G	uc002bel.3	+	7	714	c.526A>G	c.(526-528)Agg>Ggg	p.R176G	MORF4L1_uc010bli.1_3'UTR|MORF4L1_uc010blj.1_Missense_Mutation_p.R110G|MORF4L1_uc002bem.3_Missense_Mutation_p.R137G|MORF4L1_uc010une.2_Missense_Mutation_p.R49G	NM_206839	NP_996670	Q9UBU8	MO4L1_HUMAN	Homo sapiens mortality factor 4 like 1 (MORF4L1), transcript variant 2, mRNA.	176	Interaction with RB1-1.|Sufficient for interaction with SIN3A.				double-strand break repair via homologous recombination|histone deacetylation|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Sin3 complex	protein N-terminus binding			breast(1)|large_intestine(3)|lung(4)|prostate(1)|urinary_tract(1)	10						TCGGAAGAAAAGGGCCCGGGT	0.448													G	79183885	A	G	79183885	3	3	210	1	0	0	0	0	1	0	0	0	9782	63	3	3	556	3	MORF4L1	15	79183885	Missense_Mutation	SNP	A	TCGA-28-5208-01A-01D-1486-08	34334045	79183885	23347507	48	14443											
GRIN2A	2903	broad.mit.edu	37	chr16	9943716	9943716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctcctccagggtgaCgatgctgagatggttgtcat	6	11	15	9	1	1	2	1	2	0	1	3	4	3	2	3	4	1	2	3	4	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:9943716C>T	uc010uym.2	-	5	1535	c.1225G>A	c.(1225-1227)Gtc>Atc	p.V409I	GRIN2A_uc002czo.4_Missense_Mutation_p.V409I|GRIN2A_uc010uyn.2_Missense_Mutation_p.V252I|GRIN2A_uc002czr.4_Missense_Mutation_p.V409I	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	409					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCAGGGTGACGATGCTGAGA	0.582													T	9943716	C	T	9943716	3	4	210	1	0	0	0	0	1	0	0	0	6834	536	19	1	3205	1	GRIN2A	16	9943716	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		9943716	80411037	49	14444											
CPNE7	27132	broad.mit.edu	37	chr16	89649923	89649923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgcaggggtggccacaCgcagggatggcaggtgcttg	7	6	19	9	2	0	0	0	0	0	0	0	2	0	1	1	6	2	4	1	6	0	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr16:89649923C>T	uc002fnp.3	+	3	699	c.569C>T	c.(568-570)aCg>aTg	p.T190M	CPNE7_uc002fnq.3_Intron	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	190					lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		GGTGGCCACACGCAGGGATGG	0.642													T	89649923	C	T	89649923	3	4	210	1	0	0	0	0	1	0	0	0	3848	536	19	1	583	1	CPNE7	16	89649923	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	79706207	89649923	704830	50	14445											
NF1	4763	broad.mit.edu	37	chr17	29533378	29533378	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagcacacccagcaataCgaatggcaccggtaagataa	15	5	11	10	2	0	1	0	0	0	1	0	3	0	2	2	3	3	4	2	3	5	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29533378C>T	uc002hgg.3	+	11	1764	c.1381C>T	c.(1381-1383)Cga>Tga	p.R461*	NF1_uc002hge.2_Nonsense_Mutation_p.R461*|NF1_uc002hgf.2_Nonsense_Mutation_p.R461*|NF1_uc002hgh.3_Nonsense_Mutation_p.R461*|NF1_uc010csn.2_Nonsense_Mutation_p.R321*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	461					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R461*(6)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCCAGCAATACGAATGGCACC	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29533378	C	T	29533378	4	4	210	1	0	0	0	0	0	1	0	0	10432	528	19	1	1427	1	NF1	17	29533378	Nonsense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		29533378	51661832	51	14446											
NF1	4763	broad.mit.edu	37	chr17	29552132	29552132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagatagaagttcctGtcactttctccttttttacg	8	15	8	10	1	2	2	1	0	1	2	4	2	3	2	2	1	1	3	2	1	3	6			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:29552132G>T	uc002hgg.3	+	16	2248	c.1865G>T	c.(1864-1866)tGt>tTt	p.C622F	NF1_uc002hgh.3_Missense_Mutation_p.C622F|NF1_uc010csn.2_Missense_Mutation_p.C482F|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	622					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.C622*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGAAGTTCCTGTCACTTTCTC	0.373			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29552132	G	T	29552132	3	4	210	1	0	0	0	0	1	0	0	0	10432	1377	48	4	1992	4	NF1	17	29552132	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	18754	29552132	51643078	52	14447											
TMEM132E	124842	broad.mit.edu	37	chr17	32956104	32956104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccagccagtcagtcaagCggaggatcatgtggcacatt	11	8	11	11	1	4	0	4	0	0	0	4	2	4	2	2	3	2	1	2	3	1	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:32956104C>T	uc002hif.3	+	4	1277	c.949C>T	c.(949-951)Cgg>Tgg	p.R317W		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	317						integral to membrane		p.R317W(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GTCAGTCAAGCGGAGGATCAT	0.612													T	32956104	C	T	32956104	3	4	210	1	0	0	0	0	1	0	0	0	16148	759	27	1	967	1	TMEM132E	17	32956104	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	3403972	32956104	48239106	53	14448											
LRRC37A3	374819	broad.mit.edu	37	chr17	62893283	62893283	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagcctccttgactagtagCcacaatagttgccacataag	12	10	8	11	0	0	2	0	2	0	0	1	2	1	2	4	0	3	2	4	0	5	6			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr17:62893283C>G	uc002jey.2	-	2	709	c.93G>C	c.(91-93)tgG>tgC	p.W31C	LRRC37A3_uc010wqg.1_Intron|LRRC37A3_uc010wqf.1_Intron	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	31						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TGACTAGTAGCCACAATAGTT	0.622													G	62893283	C	G	62893283	3	3	210	1	0	0	0	0	1	0	0	0	9063	740	26	4	4859	4	LRRC37A3	17	62893283	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	29937179	62893283	18301927	54	14449											
ZNF532	55205	broad.mit.edu	37	chr18	56587257	56587257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtccttgcagagttctGtggtggaagctttcaacaag	8	13	12	8	1	2	1	1	0	1	1	4	2	3	2	1	2	3	3	1	2	3	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:56587257G>A	uc010xeg.2	+	2	1935	c.1738G>A	c.(1738-1740)Gtg>Atg	p.V580M	ZNF532_uc002lhp.3_Missense_Mutation_p.V578M|ZNF532_uc002lho.3_Missense_Mutation_p.V580M|ZNF532_uc002lhr.3_Missense_Mutation_p.V578M|ZNF532_uc002lhs.3_Missense_Mutation_p.V578M	NM_018181	NP_060651	Q9HCE3	ZN532_HUMAN	Homo sapiens zinc finger protein 532 (ZNF532), mRNA.	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GCAGAGTTCTGTGGTGGAAGC	0.522													A	56587257	G	A	56587257	3	1	210	1	0	0	0	0	1	0	0	0	18073	1377	48	2	1740	2	ZNF532	18	56587257	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		56587257	21489991	55	14450											
ZNF236	7776	broad.mit.edu	37	chr18	74680222	74680222	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggacggggaggagctgaGccggaccctccacctggagg	8	3	18	12	2	0	1	0	1	0	0	1	6	1	6	4	7	2	2	4	7	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr18:74680222G>T	uc002lmi.3	+	30	5663	c.5465G>T	c.(5464-5466)aGc>aTc	p.S1822I	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1822					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GAGGAGCTGAGCCGGACCCTC	0.602													T	74680222	G	T	74680222	3	4	210	1	0	0	0	0	1	0	0	0	17890	971	34	4	5587	4	ZNF236	18	74680222	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	18092965	74680222	3397026	56	14451											
ACTL9	284382	broad.mit.edu	37	chr19	8808430	8808430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgtagccctggaagaCgggcactgtgtaggtgaccc	8	8	15	10	1	0	2	0	1	0	1	0	3	0	3	2	4	1	4	2	4	3	3	rs139329295		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:8808430C>T	uc002mkl.2	-	0	743	c.622G>A	c.(622-624)Gtc>Atc	p.V208I		NM_178525	NP_848620	Q8TC94	ACTL9_HUMAN	Homo sapiens actin-like 9 (ACTL9), mRNA.	208						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CCCTGGAAGACGGGCACTGTG	0.667													T	8808430	C	T	8808430	3	4	210	1	0	0	0	0	1	0	0	0	203	536	19	1	632	1	ACTL9	19	8808430	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08		8808430	50320553	57	14452											
PVR	5817	broad.mit.edu	37	chr19	45153152	45153152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccatggcccgctgcGtctccacagggggtcgcccg	4	6	14	17	4	1	0	0	0	1	0	3	0	1	0	4	3	2	1	4	3	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:45153152G>A	uc002ozm.3	+	2	798	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	PVR_uc010ejs.3_Missense_Mutation_p.V167I|PVR_uc010xxb.2_Missense_Mutation_p.V167I|PVR_uc010xxc.2_Missense_Mutation_p.V167I|PVR_uc002ozn.3_Missense_Mutation_p.V112I	NM_006505	NP_006496	P15151	PVR_HUMAN	Homo sapiens poliovirus receptor (PVR), transcript variant 1, mRNA.	167	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCCCGCTGCGTCTCCACAGG	0.617													A	45153152	G	A	45153152	3	1	210	1	0	0	0	0	1	0	0	0	12925	1145	40	1	509	1	PVR	19	45153152	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	36344722	45153152	13975831	58	14453											
NTF4	4909	broad.mit.edu	37	chr19	49564639	49564639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcaggcccggccagtccGgctgaggagtgtgcagacgc	6	6	16	13	3	1	2	1	1	1	1	3	3	2	3	3	4	1	2	3	4	0	0	rs121918427		TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:49564639G>A	uc002pmf.4	-	1	752	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	NTF4_uc010yah.1_Intron|NTF4_uc021uxg.1_Missense_Mutation_p.R206W	NM_006179	NP_006170	P34130	NTF4_HUMAN	Homo sapiens neurotrophin 4 (NTF4), mRNA.	206			R -> Q (in a patient with primary open- angle glaucoma; uncertain pathological significance).|R -> W (in patients with primary open- angle glaucoma and normal pressure glaucoma; uncertain pathological significance; impaired ligand-mediated TRKB signaling and reduced neurite outgrowth).		adult locomotory behavior|epidermis development|ganglion mother cell fate determination|long-term memory|sensory organ boundary specification	endoplasmic reticulum lumen|extracellular region	growth factor activity			kidney(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		CGGCCAGTCCGGCTGAGGAGT	0.602													A	49564639	G	A	49564639	3	1	210	1	0	0	0	0	1	0	0	0	10773	1115	39	1	20	1	NTF4	19	49564639	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	4411487	49564639	9564344	59	14454											
ZNF813	126017	broad.mit.edu	37	chr19	53994271	53994271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaaacctagtgtgccatcGtagatgtcacactggggaga	11	8	13	9	2	1	2	1	0	0	2	2	4	1	2	2	2	2	1	2	2	3	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr19:53994271G>A	uc021uzf.1	+	0					ZNF813_uc010eqq.1_Intron|ZNF813_uc002qbu.2_Missense_Mutation_p.R262H	NM_001004301	NP_001004301	Q6ZN06	ZN813_HUMAN	Homo sapiens zinc finger protein 813 (ZNF813), mRNA.						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)	1				GBM - Glioblastoma multiforme(134;0.00619)		GTGTGCCATCGTAGATGTCAC	0.413													A	53994271	G	A	53994271	3	1	210	1	0	0	0	0	1	0	0	0	18274	1145	40	1	795	1	ZNF813	19	53994271	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	4429632	53994271	5134712	60	14455											
ZNF335	63925	broad.mit.edu	37	chr20	44587938	44587938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaagaaggggcgacggcGggaggggggctcctcagggt	9	3	22	7	3	1	2	1	0	0	2	2	5	2	3	1	8	0	1	1	8	2	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:44587938G>A	uc002xqw.3	-	14	2278	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C	ZNF335_uc010zxk.2_Missense_Mutation_p.R564C	NM_022095	NP_071378	Q9H4Z2	ZN335_HUMAN	Homo sapiens zinc finger protein 335 (ZNF335), mRNA.	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R719C(4)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GGGCGACGGCGGGAGGGGGGC	0.657													A	44587938	G	A	44587938	3	1	210	1	0	0	0	0	1	0	0	0	17953	1116	39	1	1929	1	ZNF335	20	44587938	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		44587938	18437582	61	14456											
UCKL1	54963	broad.mit.edu	37	chr20	62571758	62571758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcactgccatcatggcCgccgcgcccgtggacacggt	6	5	13	17	7	1	0	1	0	0	0	1	1	1	1	4	3	1	1	4	3	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr20:62571758C>T	uc010gkn.3	-	12	1458	c.1383G>A	c.(1381-1383)gcG>gcA	p.A461A	UCKL1_uc011abm.2_Silent_p.A446A|UCKL1_uc011abn.2_Non-coding_Transcript	NM_017859	NP_060329	Q9NWZ5	UCKL1_HUMAN	Homo sapiens uridine-cytidine kinase 1-like 1 (UCKL1), transcript variant 1, mRNA.	461					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCATCATGGCCGCCGCGCCCG	0.642													T	62571758	C	T	62571758	2	4	210	1	0	0	0	0	0	0	0	1	17027	639	23	1		1	UCKL1	20	62571758	Silent	SNP	C	TCGA-28-5208-01A-01D-1486-08	17983820	62571758	453762	62	14457											
TPTE	7179	broad.mit.edu	37	chr21	10942995	10942995	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttaacagaataataagtcGtagaagtcgaagtaaatgtg	17	11	9	4	2	1	2	0	0	1	2	3	3	1	2	0	0	1	2	0	0	9	5	rs147014138	byFrequency	TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr21:10942995G>A	uc002yip.1	-	11	960	c.592C>T	c.(592-594)Cga>Tga	p.R198*	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Nonsense_Mutation_p.R180*|TPTE_uc002yir.1_Nonsense_Mutation_p.R160*|TPTE_uc010gkv.1_Nonsense_Mutation_p.R60*	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	198					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.L197H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAATAAGTCGTAGAAGTCGA	0.313													A	10942995	G	A	10942995	4	1	210	1	0	0	0	0	0	1	0	0	16531	1153	40	1	1115	1	TPTE	21	10942995	Nonsense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		10942995	37186900	63	14458											
KLHL22	84861	broad.mit.edu	37	chr22	20819524	20819524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttccatcagcggaaaccGcactgtctcaaggagctttg	10	9	10	12	2	2	0	2	0	1	0	4	2	3	2	2	2	4	3	2	2	2	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:20819524G>A	uc002zsl.2	-	3	890	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W	KLHL22_uc011ahr.2_Missense_Mutation_p.R102W	NM_032775	NP_116164	Q53GT1	KLH22_HUMAN	Homo sapiens kelch-like 22 (Drosophila) (KLHL22), transcript variant 1, mRNA.	245					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			AGCGGAAACCGCACTGTCTCA	0.607													A	20819524	G	A	20819524	3	1	210	1	0	0	0	0	1	0	0	0	8435	1086	38	1	1187	1	KLHL22	22	20819524	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		20819524	30485042	64	14459											
RFPL2	10739	broad.mit.edu	37	chr22	32586994	32586994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccactcgctgtaacttgCggtctacgaagaggaaagtc	10	9	10	12	3	1	1	0	0	1	1	4	3	2	2	2	2	3	2	2	2	4	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chr22:32586994C>T	uc003amg.3	-	4	1838	c.902G>A	c.(901-903)cGc>cAc	p.R301H	RFPL2_uc003ame.3_Missense_Mutation_p.R240H|RFPL2_uc003amf.3_Missense_Mutation_p.R211H|RFPL2_uc003amh.3_Missense_Mutation_p.R211H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	301	B30.2/SPRY.						zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTGTAACTTGCGGTCTACGAA	0.512													T	32586994	C	T	32586994	3	4	210	1	0	0	0	0	1	0	0	0	13342	768	27	1	238	1	RFPL2	22	32586994	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	11767470	32586994	18717572	65	14460											
TLR7	51284	broad.mit.edu	37	chrX	12906487	12906487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcttagcaaaaagacaGtgtttgtgatgacagacaag	16	9	10	6	0	0	4	0	2	0	2	0	4	0	4	0	0	3	3	0	0	5	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:12906487G>A	uc004cvc.3	+	2	2999	c.2860G>A	c.(2860-2862)Gtg>Atg	p.V954M		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	954	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CAAAAAGACAGTGTTTGTGAT	0.388													A	12906487	G	A	12906487	3	1	210	1	0	0	0	0	1	0	0	0	16056	1029	36	2	2866	2	TLR7	23	12906487	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08		12906487	142364073	66	14461											
CHRDL1	91851	broad.mit.edu	37	chrX	109922646	109922646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctcaatatggaagtgctgGagaatgcctagggccaagca	12	9	12	8	0	1	1	1	0	1	1	2	3	1	2	2	3	3	2	2	3	6	3			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:109922646G>A	uc004eou.4	-	10	1513	c.1164C>T	c.(1162-1164)ctC>ctT	p.L388L	CHRDL1_uc004eov.3_Silent_p.L377L|CHRDL1_uc004eow.3_Silent_p.L386L|CHRDL1_uc010nps.3_Silent_p.L387L|CHRDL1_uc011mss.2_Silent_p.L308L	NM_001143981	NP_001137453	Q9BU40	CRDL1_HUMAN	Homo sapiens chordin-like 1 (CHRDL1), transcript variant 1, mRNA.	380					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GGAAGTGCTGGAGAATGCCTA	0.453													A	109922646	G	A	109922646	2	1	210	1	0	0	0	0	0	0	0	1	3403	1161	41	2		2	CHRDL1	23	109922646	Silent	SNP	G	TCGA-28-5208-01A-01D-1486-08	97016159	109922646	45347914	67	14462											
AFF2	2334	broad.mit.edu	37	chrX	148039907	148039907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccctgagaagaagcagcGcctggaggaggccacaacta	13	4	13	11	1	0	2	0	1	0	2	1	6	1	4	3	3	3	1	3	3	4	1			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:148039907G>A	uc004fcp.3	+	11	3088	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H	AFF2_uc004fcq.3_Missense_Mutation_p.R860H|AFF2_uc004fcr.3_Missense_Mutation_p.R831H|AFF2_uc011mxb.2_Missense_Mutation_p.R835H|AFF2_uc004fcs.3_Missense_Mutation_p.R837H|AFF2_uc011mxc.2_Missense_Mutation_p.R511H	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	870					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AAGAAGCAGCGCCTGGAGGAG	0.512													A	148039907	G	A	148039907	3	1	210	1	0	0	0	0	1	0	0	0	357	1087	38	1	2710	1	AFF2	23	148039907	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	38117261	148039907	7230653	68	14463											
L1CAM	3897	broad.mit.edu	37	chrX	153130576	153130576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgtagccggtgagcaCgccgttgtggctgagtgggg	6	7	19	9	4	0	2	0	2	0	0	0	3	0	2	2	4	3	5	2	4	1	2			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153130576C>T	uc004fjb.3	-	20	2947	c.2839G>A	c.(2839-2841)Gtg>Atg	p.V947M	L1CAM_uc004fjc.3_Missense_Mutation_p.V947M|L1CAM_uc010nuo.3_Missense_Mutation_p.V942M	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	947	Fibronectin type-III 4.		Missing (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.V947M(2)|p.G946C(2)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGGTGAGCACGCCGTTGTGG	0.716													T	153130576	C	T	153130576	3	4	210	1	0	0	0	0	1	0	0	0	8647	536	19	1	966	1	L1CAM	23	153130576	Missense_Mutation	SNP	C	TCGA-28-5208-01A-01D-1486-08	5090669	153130576	2139984	69	14464											
AVPR2	554	broad.mit.edu	37	chrX	153171843	153171843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtgcagctgtgggccGcgtgggacccggaggcacct	4	7	17	13	3	0	0	0	0	0	0	1	2	1	2	4	5	2	3	4	5	0	0			TCGA-28-5208-01A-01D-1486-08	TCGA-28-5208-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76209124-b3f0-4bb2-8b2c-e268abdefe2b	399d129a-791c-4786-bc04-f6dada7d0242	g.chrX:153171843G>A	uc004fjh.4	+	1	1055	c.883G>A	c.(883-885)Gcg>Acg	p.A295T	AVPR2_uc004fjg.4_Missense_Mutation_p.A84T|AVPR2_uc004fji.3_Missense_Mutation_p.A295T	NM_000054	NP_000045	P30518	V2R_HUMAN	Homo sapiens arginine vasopressin receptor 2 (AVPR2), transcript variant 1, mRNA.	295					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCTGTGGGCCGCGTGGGACCC	0.647													A	153171843	G	A	153171843	3	1	210	1	0	0	0	0	1	0	0	0	1238	1087	38	1	889	1	AVPR2	23	153171843	Missense_Mutation	SNP	G	TCGA-28-5208-01A-01D-1486-08	41267	153171843	2098717	70	14465											
AKR7A3	22977	broad.mit.edu	37	chr1	19611245	19611245	+	Frame_Shift_Del	DEL	G	G	-																															acgggctgtttcccattcttGtcctcatacttgtacttgcc																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:19611245delG	uc001bbv.1	-	4	716	c.639delC	c.(637-639)gacfs	p.D213fs		NM_012067	NP_036199	O95154	ARK73_HUMAN	Homo sapiens aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase) (AKR7A3), mRNA.	213					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCATTCTTGTCCTCATACT	0.597													-	19611245	G	-	19611245	7	5	211	1	0	1	0	1	0	0	0	0	476	1368	48	0	368	0	AKR7A3	1	19611245	Frame_Shift_Del	DEL	G	TCGA-28-5209-01A-01D-1486-08		19611245	229639376	1	14466											
SLC1A7	6512	broad.mit.edu	37	chr1	53559217	53559217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggccccgctgtcacccatgCggcccagcatgatgcctgcg	5	6	13	17	3	1	1	1	1	0	0	1	1	1	1	5	2	4	2	5	2	0	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:53559217C>T	uc021onn.1	-	5	881	c.713G>A	c.(712-714)cGc>cAc	p.R238H	SLC1A7_uc021onm.1_Missense_Mutation_p.R166H|SLC1A7_uc001cux.3_5'Flank|SLC1A7_uc001cuy.3_Missense_Mutation_p.R238H|SLC1A7_uc021ono.1_Non-coding_Transcript	NM_006671	NP_006662	O00341	EAA5_HUMAN	Homo sapiens solute carrier family 1 (glutamate transporter), member 7 (SLC1A7), mRNA.	238						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R238C(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	GTCACCCATGCGGCCCAGCAT	0.617													T	53559217	C	T	53559217	3	4	211	1	0	0	0	0	1	0	0	0	14531	768	27	1	993	1	SLC1A7	1	53559217	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	33947972	53559217	195691404	2	14467											
ODF2L	57489	broad.mit.edu	37	chr1	86838137	86838137	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattgtttcaatctgtacTtccaattcggttttttctat	7	22	4	8	1	4	0	2	0	2	0	6	0	5	0	1	1	1	3	1	1	4	10			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:86838137T>A	uc001dll.2	-	8	1259	c.897A>T	c.(895-897)gaA>gaT	p.E299D	ODF2L_uc001dlp.3_Missense_Mutation_p.E299D|ODF2L_uc010osg.2_Missense_Mutation_p.E299D|ODF2L_uc001dlm.2_Missense_Mutation_p.E299D|ODF2L_uc021opg.1_Missense_Mutation_p.E168D|ODF2L_uc001dlq.2_Missense_Mutation_p.E129D|ODF2L_uc009wcr.2_Missense_Mutation_p.E168D	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	299						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		CAATCTGTACTTCCAATTCGG	0.259													A	86838137	T	A	86838137	3	1	211	1	0	0	0	0	1	0	0	0	10904	1606	56	5	1229	5	ODF2L	1	86838137	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	33278920	86838137	162412484	3	14468											
SPAG17	200162	broad.mit.edu	37	chr1	118574428	118574428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacggtcactataacaggaaCcactgttggagtgagtgctg	12	9	12	8	1	1	1	1	1	0	0	1	3	1	3	1	3	4	2	1	3	4	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:118574428C>A	uc001ehk.2	-	24	3564	c.3496G>T	c.(3496-3498)Gtt>Ttt	p.V1166F		NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1166						cilium|flagellar axoneme|microtubule		p.V1165V(1)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATAACAGGAACCACTGTTGGA	0.353													A	118574428	C	A	118574428	3	1	211	1	0	0	0	0	1	0	0	0	15075	507	18	4	3271	4	SPAG17	1	118574428	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	31736291	118574428	130676193	4	14469											
FCER1A	2205	broad.mit.edu	37	chr1	159272655	159272655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcagctccagatggcGtgttagcaggtgagtcctct	6	13	12	10	1	1	2	0	1	1	1	3	2	3	2	2	2	3	4	2	2	1	3	rs142162478		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:159272655G>A	uc001ftq.3	+	2	164	c.67G>A	c.(67-69)Gtg>Atg	p.V23M		NM_002001	NP_001992	P12319	FCERA_HUMAN	Homo sapiens Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide (FCER1A), mRNA.	23						integral to plasma membrane		p.G22V(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	TCCAGATGGCGTGTTAGCAGG	0.463													A	159272655	G	A	159272655	3	1	211	1	0	0	0	0	1	0	0	0	5823	1145	40	1	73	1	FCER1A	1	159272655	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	40698227	159272655	89977966	5	14470											
PLA2G4A	5321	broad.mit.edu	37	chr1	186863266	186863266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaattatgtcatggatgaaActctagggacagcaacattt	14	11	8	8	0	2	1	1	1	1	0	2	3	2	3	1	2	3	1	1	2	5	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:186863266A>T	uc001gsc.3	+	4	506	c.301A>T	c.(301-303)Act>Tct	p.T101S	PLA2G4A_uc010pos.2_Missense_Mutation_p.T101S	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	101	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity	p.E100*(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	CATGGATGAAACTCTAGGGAC	0.328													T	186863266	A	T	186863266	3	4	211	1	0	0	0	0	1	0	0	0	12078	43	2	5	315	5	PLA2G4A	1	186863266	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	27590611	186863266	62387355	6	14471											
MIA3	375056	broad.mit.edu	37	chr1	222833136	222833136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaagctgccaatttgAgacacaagtatgtggatttt	14	11	11	5	0	0	1	0	1	0	1	0	4	0	3	1	2	2	2	1	2	5	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr1:222833136A>G	uc001hnl.3	+	21	4876	c.4867A>G	c.(4867-4869)Aga>Gga	p.R1623G	MIA3_uc001hnm.3_Missense_Mutation_p.R501G	NM_198551	NP_940953	Q5JRA6	MIA3_HUMAN	Homo sapiens melanoma inhibitory activity family, member 3 (MIA3), mRNA.	1623					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGCCAATTTGAGACACAAGTA	0.358													G	222833136	A	G	222833136	3	3	211	1	0	0	0	0	1	0	0	0	9640	296	11	3	4953	3	MIA3	1	222833136	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	35969870	222833136	26417485	7	14472											
USP39	10713	broad.mit.edu	37	chr2	85863233	85863233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcactcagctctgggggGcacaaagaagaaaaagaaga	16	5	12	8	0	3	4	1	0	2	4	3	4	3	4	0	3	2	3	0	3	5	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:85863233G>A	uc002sqe.3	+	6	1043	c.1007G>A	c.(1006-1008)gGc>gAc	p.G336D	USP39_uc002sqb.3_Missense_Mutation_p.G67D|USP39_uc010ysu.2_Missense_Mutation_p.G258D|USP39_uc010ysv.2_Missense_Mutation_p.G233D|USP39_uc010fgn.1_Missense_Mutation_p.G336D|USP39_uc002sqg.3_Missense_Mutation_p.G336D|USP39_uc010fgo.3_Missense_Mutation_p.G336D	NM_006590	NP_006581	Q53GS9	SNUT2_HUMAN	Homo sapiens ubiquitin specific peptidase 39 (USP39), mRNA.	336					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						GCTCTGGGGGGCACAAAGAAG	0.423													A	85863233	G	A	85863233	3	1	211	1	0	0	0	0	1	0	0	0	17172	1203	42	2	1033	2	USP39	2	85863233	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		85863233	157336140	8	14473											
TTN	7273	broad.mit.edu	37	chr2	179631234	179631234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccactacatatttgtgtcGttcttgaacttggaaattga	10	17	7	7	1	1	2	0	2	1	0	3	3	2	3	1	1	2	1	1	1	4	8			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr2:179631234G>A	uc021vsy.1	-	40	9802	c.9577C>T	c.(9577-9579)Cga>Tga	p.R3193*	TTN_uc021vsz.1_Nonsense_Mutation_p.R3147*|TTN_uc021vta.1_Nonsense_Mutation_p.R3147*|TTN_uc021vtb.1_Nonsense_Mutation_p.R3147*|TTN_uc002umz.1_5'Flank|TTN_uc002unb.2_Nonsense_Mutation_p.R3193*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	3193							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R3147*(6)|p.R3193*(5)|p.P3192L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTTGTGTCGTTCTTGAACT	0.423													A	179631234	G	A	179631234	4	1	211	1	0	0	0	0	0	1	0	0	16837	1153	40	1	101699	1	TTN	2	179631234	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	93768001	179631234	63568139	9	14474											
MKRN2	23609	broad.mit.edu	37	chr3	12616291	12616291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgtctgtgcttcagAtctgcatgttgacgttcgaa	6	15	9	11	2	3	2	1	1	2	1	5	3	4	2	2	0	2	4	2	0	1	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:12616291A>G	uc003bxd.3	+	5	699	c.643_splice	c.e5-1	p.I215_splice	MKRN2_uc011aus.2_Splice_Site_p.I172_splice	NM_014160	NP_054879	Q9H000	MKRN2_HUMAN	Homo sapiens makorin ring finger protein 2 (MKRN2), mRNA.	215	Makorin-type Cys-His.					intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGTGCTTCAGATCTGCATGTT	0.542													G	12616291	A	G	12616291	3	3	211	1	0	0	0	0	1	0	0	0	9682	347	12	3	661	3	MKRN2	3	12616291	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08		12616291	185406139	10	14475											
MST1R	4486	broad.mit.edu	37	chr3	49940348	49940348	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcactgacaacgccacaAagcccggtgcgaatcccgag	12	3	11	15	4	0	1	0	1	0	0	1	3	1	1	3	1	4	2	3	1	3	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:49940348A>T	uc003cxy.4	-	0	959	c.695T>A	c.(694-696)tTt>tAt	p.F232Y	MST1R_uc011bdc.2_Missense_Mutation_p.F232Y|MST1R_uc011bdd.2_Missense_Mutation_p.F232Y|MST1R_uc011bde.1_Missense_Mutation_p.F232Y|MST1R_uc011bdf.1_Missense_Mutation_p.F232Y|MST1R_uc011bdg.2_Missense_Mutation_p.F232Y	NM_002447	NP_002438	Q04912	RON_HUMAN	Homo sapiens macrophage stimulating 1 receptor (c-met-related tyrosine kinase) (MST1R), transcript variant 1, mRNA.	232	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		CAACGCCACAAAGCCCGGTGC	0.577													T	49940348	A	T	49940348	3	4	211	1	0	0	0	0	1	0	0	0	9967	14	1	5	3587	5	MST1R	3	49940348	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	37324057	49940348	148082082	11	14476											
CACNA1D	776	broad.mit.edu	37	chr3	53837549	53837549	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttgggggagcaggagtaTttcagtagtgaggaatgcta	10	11	16	4	0	1	1	1	1	0	0	1	4	1	4	0	4	3	5	0	4	4	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:53837549T>G	uc003dgv.4	+	43	5698	c.5535T>G	c.(5533-5535)taT>taG	p.Y1845*	CACNA1D_uc003dgu.4_Nonsense_Mutation_p.Y1865*|CACNA1D_uc003dgy.4_Nonsense_Mutation_p.Y1821*|CACNA1D_uc003dgw.4_Nonsense_Mutation_p.Y1512*|CACNA1D_uc011bes.2_Non-coding_Transcript	NM_001128840	NP_001122312	Q01668	CAC1D_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1D subunit (CACNA1D), transcript variant 2, mRNA.	1845					axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AGCAGGAGTATTTCAGTAGTG	0.597													G	53837549	T	G	53837549	4	3	211	1	0	0	0	0	0	1	0	0	2567	1500	52	5	5881	5	CACNA1D	3	53837549	Nonsense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	3897201	53837549	144184881	12	14477											
NPHP3	84129	broad.mit.edu	37	chr3	132360955	132360955	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggctaagtccaggaattGttaaatcacggaagattcga	13	10	11	7	2	1	1	1	0	0	1	3	4	2	3	1	3	0	2	1	3	5	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:132360955G>C	uc003eov.4	-	3	778	c.398C>G	c.(397-399)aCa>aGa	p.T133R		NM_032169	NP_115545	Q7Z494	NPHP3_HUMAN	Homo sapiens acyl-CoA dehydrogenase family, member 11 (ACAD11), mRNA.	0					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCCAGGAATTGTTAAATCACG	0.378													C	132360955	G	C	132360955	3	2	211	1	0	0	0	0	1	0	0	0	10656	1377	48	4		4	NPHP3	3	132360955	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	78523406	132360955	65661475	13	14478											
RNF168	165918	broad.mit.edu	37	chr3	196229875	196229876	+	Frame_Shift_Del	DEL	CG	CG	-																															accgagtccacgacgataccCggcggcgacagaagggacag																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr3:196229875_196229876delCG	uc003fwq.3	-	0	764_765	c.169_170delCG	c.(169-171)cggfs	p.R57fs	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	57					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CGACGATACCCGGCGGCGACAG	0.545													-	196229876	CG	-	196229875	7	5	211	1	0	1	0	1	0	0	0	0	13550	652	23	0	1569	0	RNF168	3	196229875	Frame_Shift_Del	DEL	CG	TCGA-28-5209-01A-01D-1486-08	63868920	196229875	1792555	14	14479											
ABCG2	9429	broad.mit.edu	37	chr4	89053763	89053763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtgggtcccaggatggcGttgagaccaggtttcatgat	7	11	14	9	1	1	2	1	2	0	1	2	4	2	3	3	4	0	2	3	4	0	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:89053763G>A	uc003hrg.3	-	2	721	c.228C>T	c.(226-228)aaC>aaT	p.N76N	ABCG2_uc003hrh.3_Silent_p.N76N|ABCG2_uc003hrf.3_5'Flank|ABCG2_uc003hri.1_Silent_p.N76N|ABCG2_uc003hrj.1_Silent_p.N76N|ABCG2_uc003hrk.1_Silent_p.N76N	NM_004827	NP_004818	Q9UNQ0	ABCG2_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 2 (ABCG2), mRNA.	76	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	CCAGGATGGCGTTGAGACCAG	0.393													A	89053763	G	A	89053763	2	1	211	1	0	0	0	0	0	0	0	1	69	1136	40	1		1	ABCG2	4	89053763	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08		89053763	102100513	15	14480											
UNC5C	8633	broad.mit.edu	37	chr4	96256705	96256705	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaatataagcttcttcagGctcaataaggaaatgtggca	15	10	8	8	0	3	0	2	0	1	0	3	1	3	1	0	3	1	3	0	3	6	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96256705G>C	uc003hto.3	-	1	555	c.202C>G	c.(202-204)Cct>Gct	p.P68A	UNC5C_uc010ilc.2_Missense_Mutation_p.P68A|UNC5C_uc003htq.3_Missense_Mutation_p.P68A	NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	68	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		GCTTCTTCAGGCTCAATAAGG	0.418													C	96256705	G	C	96256705	3	2	211	1	0	0	0	0	1	0	0	0	17095	1203	42	4	2653	4	UNC5C	4	96256705	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	7202942	96256705	94897571	16	14481											
PDHA2	5161	broad.mit.edu	37	chr4	96762205	96762205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagtcagttatcgtacaCgagaagaaattcaggaagta	15	9	11	6	2	2	2	2	0	0	2	3	5	2	4	0	2	1	3	0	2	6	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:96762205C>T	uc003htr.4	+	0	967	c.904C>T	c.(904-906)Cga>Tga	p.R302*		NM_005390	NP_005381	P29803	ODPAT_HUMAN	Homo sapiens pyruvate dehydrogenase (lipoamide) alpha 2 (PDHA2), mRNA.	302					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TTATCGTACACGAGAAGAAAT	0.423													T	96762205	C	T	96762205	4	4	211	1	0	0	0	0	0	1	0	0	11741	528	19	1	906	1	PDHA2	4	96762205	Nonsense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	505500	96762205	94392071	17	14482											
ADAD1	132612	broad.mit.edu	37	chr4	123317517	123317517	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagcagttcattggctgctTttataattgaaagaggtaag	13	14	10	4	0	1	2	1	1	0	1	1	2	1	2	0	2	2	5	0	2	5	8			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr4:123317517T>C	uc003ieo.3	+	6	941	c.709T>C	c.(709-711)Ttt>Ctt	p.F237L	ADAD1_uc003iep.3_Missense_Mutation_p.F237L|ADAD1_uc003ieq.3_Missense_Mutation_p.F219L	NM_139243	NP_001152767	Q96M93	ADAD1_HUMAN	Homo sapiens adenosine deaminase domain containing 1 (testis-specific) (ADAD1), transcript variant 1, mRNA.	237					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATTGGCTGCTTTTATAATTGA	0.279													C	123317517	T	C	123317517	3	2	211	1	0	0	0	0	1	0	0	0	231	1841	64	3	727	3	ADAD1	4	123317517	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	26555312	123317517	67836759	18	14483											
RASGRF2	5924	broad.mit.edu	37	chr5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggacaccagccaaaCgttcatccgccaaggtaagt	11	8	9	13	2	1	0	1	0	0	0	2	1	2	1	4	2	3	3	4	2	3	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:80382758C>T	uc003kha.2	+	8	1426	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_uc011ctn.2_Non-coding_Transcript|RASGRF2_uc003khb.1_Missense_Mutation_p.T287M	NM_006909	NP_008840	O14827	RGRF2_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 2 (RASGRF2), mRNA.	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532													T	80382758	C	T	80382758	3	4	211	1	0	0	0	0	1	0	0	0	13161	536	19	1	1410	1	RASGRF2	5	80382758	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		80382758	100532502	19	14484											
SLC22A5	6584	broad.mit.edu	37	chr5	131729923	131729923	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacaaggatgttaaaagatGgtcaagaaaggcccacaatc	18	6	9	8	0	1	2	1	0	0	2	2	3	1	3	1	3	0	1	1	3	6	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:131729923G>T	uc003kwx.4	+	10	1969	c.1705G>T	c.(1705-1707)Ggt>Tgt	p.G569C	SLC22A5_uc003kww.4_Missense_Mutation_p.G545C	NM_003060	NP_003051	O76082	S22A5_HUMAN	Homo sapiens solute carrier family 22 (organic cation/carnitine transporter), member 5 (SLC22A5), mRNA.	545					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTTAAAAGATGGTCAAGAAAG	0.393													T	131729923	G	T	131729923	3	4	211	1	0	0	0	0	1	0	0	0	14551	1348	47	4	1671	4	SLC22A5	5	131729923	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	51347165	131729923	49185337	20	14485											
PCDHGC5	56102	broad.mit.edu	37	chr5	140751480	140751480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcgtcctacgtgtccGtgagcgcgcggagcggggtg	4	8	18	11	7	0	1	0	1	0	0	3	2	2	2	2	3	4	1	2	3	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:140751480G>A	uc003ljw.2	+	0	1519	c.1519G>A	c.(1519-1521)Gtg>Atg	p.V507M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Missense_Mutation_p.V507M|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	509	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTACGTGTCCGTGAGCGCGCG	0.667													A	140751480	G	A	140751480	3	1	211	1	0	0	0	0	1	0	0	0	11647	1145	40	1		1	PCDHGC5	5	140751480	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	9021557	140751480	40163780	21	14486											
GRM6	2916	broad.mit.edu	37	chr5	178408768	178408768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggatggaagaggatgaCgtaggttttgggtacgtaga	10	11	16	4	2	1	3	0	1	1	2	1	6	1	6	0	5	1	4	0	5	4	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr5:178408768C>T	uc003mjr.3	-	9	2703	c.2524G>A	c.(2524-2526)Gtc>Atc	p.V842I	GRM6_uc003mjq.3_Missense_Mutation_p.V245I	NM_000843	NP_000834	O15303	GRM6_HUMAN	Homo sapiens glutamate receptor, metabotropic 6 (GRM6), mRNA.	842					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AAGAGGATGACGTAGGTTTTG	0.587													T	178408768	C	T	178408768	3	4	211	1	0	0	0	0	1	0	0	0	6856	536	19	1	113	1	GRM6	5	178408768	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	37657288	178408768	2506492	22	14487											
LRFN2	57497	broad.mit.edu	37	chr6	40359728	40359728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctgccaaaagtccccCgggcccccaccaggtcactc	8	4	10	19	2	1	0	1	0	0	0	3	1	2	1	6	3	2	1	6	3	2	0	rs146316351	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:40359728C>T	uc003oph.1	-	2	2789	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	775						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AAAAGTCCCCCGGGCCCCCAC	0.607													T	40359728	C	T	40359728	3	4	211	1	0	0	0	0	1	0	0	0	9008	652	23	1	49	1	LRFN2	6	40359728	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		40359728	130755339	23	14488											
TTBK1	84630	broad.mit.edu	37	chr6	43222352	43222352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgctggacttcgggctggCccggcagtacaccaacacca	9	7	11	14	2	0	0	0	0	0	0	1	1	0	1	3	4	3	4	3	4	3	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:43222352C>T	uc003ouq.1	+	5	818	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_032538	NP_115927	Q5TCY1	TTBK1_HUMAN	Homo sapiens tau tubulin kinase 1 (TTBK1), mRNA.	180	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			TTCGGGCTGGCCCGGCAGTAC	0.652													T	43222352	C	T	43222352	3	4	211	1	0	0	0	0	1	0	0	0	16778	739	26	2	557	2	TTBK1	6	43222352	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2862624	43222352	127892715	24	14489											
DEFB114	245928	broad.mit.edu	37	chr6	49928132	49928132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtaacgtttggtgcaaCgatcagcattcaccaaggta	12	9	10	10	3	2	0	2	0	0	0	2	2	2	0	2	2	4	5	2	2	4	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:49928132C>T	uc011dwp.2	-	1	83	c.83G>A	c.(82-84)cGt>cAt	p.R28H		NM_001037499	NP_001032588	Q30KQ6	DB114_HUMAN	Homo sapiens defensin, beta 114 (DEFB114), mRNA.	28					defense response to bacterium	extracellular region		p.R28C(1)		kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Lung NSC(77;0.042)					TTTGGTGCAACGATCAGCATT	0.353													T	49928132	C	T	49928132	3	4	211	1	0	0	0	0	1	0	0	0	4441	536	19	1	129	1	DEFB114	6	49928132	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	6705780	49928132	121186935	25	14490											
SYNJ2	8871	broad.mit.edu	37	chr6	158483053	158483053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttcttgccacgcgggCgacacgcctatgatcaattt	7	11	11	12	4	2	1	1	1	1	0	2	2	2	1	2	2	1	1	2	2	2	4	rs142499089		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr6:158483053C>T	uc003qqx.2	+	7	1090	c.984C>T	c.(982-984)ggC>ggT	p.G328G	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Silent_p.G328G|SYNJ2_uc003qqy.2_Silent_p.G91G|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Silent_p.G277G|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	328	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.A327V(1)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GCCACGCGGGCGACACGCCTA	0.567													T	158483053	C	T	158483053	2	4	211	1	0	0	0	0	0	0	0	1	15550	755	27	1		1	SYNJ2	6	158483053	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	108554921	158483053	12632014	26	14491											
CARD11	84433	broad.mit.edu	37	chr7	2953020	2953020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagagcacgggccggcGgcgctcgcagtagaaggcgc	8	4	18	11	6	0	3	0	1	0	2	1	3	0	3	1	4	1	4	1	4	3	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:2953020G>A	uc003smv.3	-	21	3254	c.2920C>T	c.(2920-2922)Cgc>Tgc	p.R974C		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	974	Guanylate kinase-like.				positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ACGGGCCGGCGGCGCTCGCAG	0.652			Mis		DLBCL								A	2953020	G	A	2953020	3	1	211	1	0	0	0	0	1	0	0	0	2671	1116	39	1	560	1	CARD11	7	2953020	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		2953020	156185643	27	14492											
CCDC129	223075	broad.mit.edu	37	chr7	31682505	31682505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatggaggaagagtttctGcttgaggccatggaggggcc	8	9	18	6	0	1	3	0	2	1	1	1	6	1	6	2	6	1	2	2	6	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:31682505G>A	uc011kae.2	+	10	1611	c.1599G>A	c.(1597-1599)ctG>ctA	p.L533L	CCDC129_uc011kad.1_Silent_p.L517L|CCDC129_uc003tcj.1_Silent_p.L507L|CCDC129_uc003tci.1_Silent_p.L358L|CCDC129_uc003tck.1_Silent_p.L415L	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	507								p.L359L(1)|p.L507L(1)		cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAGAGTTTCTGCTTGAGGCCA	0.532													A	31682505	G	A	31682505	2	1	211	1	0	0	0	0	0	0	0	1	2790	1306	46	2		2	CCDC129	7	31682505	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	28729485	31682505	127456158	28	14493											
AEBP1	165	broad.mit.edu	37	chr7	44146386	44146386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccaccaagaagcccccGtcagggaagaggccccccat	12	2	11	16	1	1	2	1	0	0	2	1	3	1	3	7	3	1	0	7	3	4	0	rs144974496		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:44146386G>A	uc003tkb.3	+	1	800	c.495G>A	c.(493-495)ccG>ccA	p.P165P		NM_001129	NP_001120	Q8IUX7	AEBP1_HUMAN	Homo sapiens AE binding protein 1 (AEBP1), mRNA.	165	Pro-rich.				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						AGAAGCCCCCGTCAGGGAAGA	0.652													A	44146386	G	A	44146386	2	1	211	1	0	0	0	0	0	0	0	1	349	1132	40	1		1	AEBP1	7	44146386	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	12463881	44146386	114992277	29	14494											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55233043G>C	uc003tqk.3	+	14	2039	c.1793G>C	c.(1792-1794)gGa>gCa	p.G598A	EGFR_uc003tqi.3_Missense_Mutation_p.G598A|EGFR_uc003tqj.3_Missense_Mutation_p.G598A|EGFR_uc022adm.1_Missense_Mutation_p.G598A|EGFR_uc010kzg.2_Missense_Mutation_p.G553A|EGFR_uc022adn.1_Missense_Mutation_p.G553A|EGFR_uc011kco.2_Missense_Mutation_p.G545A|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55233043	G	C	55233043	3	2	211	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	11086657	55233043	103905620	30	14495											
EGFR	1956	broad.mit.edu	37	chr7	55268064	55268064	+	Silent	SNP	C	C	T																															cgtgagttgatcatcgaattCtccaaaatggcccgagaccc																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268064C>T	uc003tqk.3	+	23	3150	c.2904C>T	c.(2902-2904)ttC>ttT	p.F968F	EGFR_uc022adm.1_Silent_p.F968F|EGFR_uc010kzg.2_Silent_p.F923F|EGFR_uc022adn.1_Silent_p.F923F|EGFR_uc011kco.2_Silent_p.F915F	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	968	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCATCGAATTCTCCAAAATGG	0.478		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55268064	C	T	55268064	2	4	211	1	0	0	0	0	0	0	0	1	5006	912	32	2		2	EGFR	7	55268064	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	35021	55268064	103870599	31	14496	17	2									
EGFR	1956	broad.mit.edu	37	chr7	55268067	55268067	+	Silent	SNP	C	C	G																															gagttgatcatcgaattctcCaaaatggcccgagaccccca																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:55268067C>G	uc003tqk.3	+	23	3153	c.2907C>G	c.(2905-2907)tcC>tcG	p.S969S	EGFR_uc022adm.1_Silent_p.S969S|EGFR_uc010kzg.2_Silent_p.S924S|EGFR_uc022adn.1_Silent_p.S924S|EGFR_uc011kco.2_Silent_p.S916S	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	969	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.F968L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCGAATTCTCCAAAATGGCCC	0.483		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55268067	C	G	55268067	2	3	211	1	0	0	0	0	0	0	0	1	5006	581	21	4		4	EGFR	7	55268067	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	3	55268067	103870596	32	14497	17	2									
CHCHD2	51142	broad.mit.edu	37	chr7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-																															tttgatctcatagaggcaagGctgctgctgctgtgctggct																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:56170668_56170670delGCT	uc003tsa.3	-	2	416_418	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del	PSPH_uc003trj.3_Intron	NM_016139	NP_057223	Q9Y6H1	CHCH2_HUMAN	Homo sapiens coiled-coil-helix-coiled-coil-helix domain containing 2 (CHCHD2), nuclear gene encoding mitochondrial protein, mRNA.	112	CHCH.					mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488													-	56170670	GCT	-	56170668	7	5	211	1	0	1	0	1	0	0	0	0	3346	1203	42	0	126	0	CHCHD2	7	56170668	In_Frame_Del	DEL	GCT	TCGA-28-5209-01A-01D-1486-08	902601	56170668	102967995	33	14498											
CALN1	83698	broad.mit.edu	37	chr7	71252855	71252855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatatgaggctcttccggaCgcaggtctgtctgttctgct	5	13	12	11	2	4	1	0	1	4	0	5	2	5	2	1	3	1	5	1	3	1	3	rs144352678	by1000genomes	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:71252855C>T	uc003twb.4	-	6	1082	c.691G>A	c.(691-693)Gtc>Atc	p.V231I	CALN1_uc003twa.4_Missense_Mutation_p.V189I|CALN1_uc003twc.4_Missense_Mutation_p.V189I	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	189						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.V189I(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CTCTTCCGGACGCAGGTCTGT	0.537													T	71252855	C	T	71252855	3	4	211	1	0	0	0	0	1	0	0	0	2617	536	19	1	98	1	CALN1	7	71252855	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	15082187	71252855	87885808	34	14499											
SEMA3E	9723	broad.mit.edu	37	chr7	83032082	83032082	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacacatatagcatgccctcGaaaaatattactgaaaaata	19	9	5	8	1	0	1	0	1	0	0	1	3	0	1	1	0	3	1	1	0	9	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:83032082G>A	uc003uhy.2	-	9	1630	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	SEMA3E_uc022agy.1_Nonsense_Mutation_p.R277*	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	337	Sema.				axon guidance	extracellular space|membrane	receptor activity	p.R337*(2)		breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				GCATGCCCTCGAAAAATATTA	0.403													A	83032082	G	A	83032082	4	1	211	1	0	0	0	0	0	1	0	0	14121	1066	37	1	1350	1	SEMA3E	7	83032082	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	11779227	83032082	76106581	35	14500											
ABCB4	5244	broad.mit.edu	37	chr7	87074204	87074204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataatatcaaagatcacatAtgctgctcctcttgcattgg	13	13	6	9	0	3	1	2	0	1	1	4	1	4	1	1	1	3	3	1	1	5	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:87074204A>G	uc003uiv.1	-	9	1169	c.1093T>C	c.(1093-1095)Tat>Cat	p.Y365H	ABCB4_uc003uiw.1_Missense_Mutation_p.Y365H|ABCB4_uc003uix.1_Missense_Mutation_p.Y365H	NM_018849	NP_061337	P21439	MDR3_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 4 (ABCB4), transcript variant B, mRNA.	365					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAGATCACATATGCTGCTCCT	0.343													G	87074204	A	G	87074204	3	3	211	1	0	0	0	0	1	0	0	0	43	449	16	3	2843	3	ABCB4	7	87074204	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	4042122	87074204	72064459	36	14501											
COL1A2	1278	broad.mit.edu	37	chr7	94054949	94054949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaacgatggtcccccaGgtcgcgatggtcaacccgga	8	6	14	13	4	1	0	1	0	0	0	3	4	2	2	3	5	2	0	3	5	2	0	rs72659309		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:94054949G>T	uc003ung.1	+	42	3280	c.2809G>T	c.(2809-2811)Ggt>Tgt	p.G937C	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	937					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.G937S(2)|p.P936S(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCCCAGGTCGCGATGG	0.478										HNSCC(75;0.22)			T	94054949	G	T	94054949	3	4	211	1	0	0	0	0	1	0	0	0	3709	1000	35	4	2979	4	COL1A2	7	94054949	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	6980745	94054949	65083714	37	14502											
CUX1	1523	broad.mit.edu	37	chr7	101926060	101926060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggactgtgccaccttctgCgccaagaagtgaggaccccc	9	6	12	14	1	1	2	0	1	1	1	1	4	1	4	5	2	2	0	5	2	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:101926060C>T	uc003uyt.3	+	21	2086	c.1959C>T	c.(1957-1959)tgC>tgT	p.C653C	CUX1_uc003uyw.3_Silent_p.C607C|CUX1_uc003uyv.3_Silent_p.C637C|CUX1_uc003uyu.3_Silent_p.C651C|CUX1_uc011kkn.2_Silent_p.C614C|SH2B2_uc011kko.2_5'Flank	NM_001913	NP_001904	P39880	CUX1_HUMAN	Homo sapiens cut-like homeobox 1 (CUX1), transcript variant 2, mRNA.	0					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CCACCTTCTGCGCCAAGAAGT	0.662													T	101926060	C	T	101926060	2	4	211	1	0	0	0	0	0	0	0	1	4097	776	27	1		1	CUX1	7	101926060	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	7871111	101926060	57212603	38	14503											
SVOPL	136306	broad.mit.edu	37	chr7	138305873	138305873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagcgcgcatcgtggtgGggtagacctgcagggagagg	9	5	18	9	3	0	2	0	0	0	2	1	3	0	2	2	5	2	3	2	5	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr7:138305873G>A	uc011kqh.2	-	12	1271	c.1271C>T	c.(1270-1272)cCc>cTc	p.P424L	SVOPL_uc003vue.3_Missense_Mutation_p.P272L	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	424						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						CATCGTGGTGGGGTAGACCTG	0.587													A	138305873	G	A	138305873	3	1	211	1	0	0	0	0	1	0	0	0	15520	1232	43	2	219	2	SVOPL	7	138305873	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	36379813	138305873	20832790	39	14504											
EPPK1	83481	broad.mit.edu	37	chr8	144940353	144940353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccacgtccacgggcaCgcggtggctgtgcacggggt	5	6	18	12	5	0	0	0	0	0	0	1	0	1	0	2	6	1	4	2	6	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr8:144940353C>T	uc003zaa.1	-	0	7082	c.7069G>A	c.(7069-7071)Gtg>Atg	p.V2357M		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2357						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.692													T	144940353	C	T	144940353	3	4	211	1	0	0	0	0	1	0	0	0	5231	536	19	1	197	1	EPPK1	8	144940353	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		144940353	1423669	40	14505											
ARMC4	55130	broad.mit.edu	37	chr10	28228843	28228843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtaaatggccatggCgcagtgctcctgcagctgct	7	9	12	13	1	0	0	0	0	0	0	1	0	1	0	3	3	4	6	3	3	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:28228843C>T	uc009xky.3	-	13	2178	c.2080G>A	c.(2080-2082)Gcc>Acc	p.A694T	ARMC4_uc010qds.2_Missense_Mutation_p.A219T|ARMC4_uc010qdt.2_Missense_Mutation_p.A386T|ARMC4_uc001itz.3_Missense_Mutation_p.A694T	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	694							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						ATGGCCATGGCGCAGTGCTCC	0.458													T	28228843	C	T	28228843	3	4	211	1	0	0	0	0	1	0	0	0	958	768	27	1	1082	1	ARMC4	10	28228843	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		28228843	107305904	41	14506											
HNRNPF	3185	broad.mit.edu	37	chr10	43882701	43882701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcagtcccgggccggTcatagggccctggccgctgc	3	7	15	16	3	1	0	1	0	0	0	3	0	3	0	5	5	1	2	5	5	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:43882701T>C	uc009xmh.1	-	2	1119	c.632A>G	c.(631-633)gAc>gGc	p.D211G	HNRNPF_uc001jar.2_Missense_Mutation_p.D211G|HNRNPF_uc001jas.2_Missense_Mutation_p.D211G|HNRNPF_uc001jat.2_Missense_Mutation_p.D211G|HNRNPF_uc001jav.2_Missense_Mutation_p.D211G|HNRNPF_uc001jau.2_Missense_Mutation_p.D211G|HNRNPF_uc021ppg.1_Missense_Mutation_p.D211G|HNRNPF_uc010qfa.1_Missense_Mutation_p.V128A	NM_001098208	NP_004957	P52597	HNRPF_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein F (HNRNPF), transcript variant 1, mRNA.	211					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCCGGGCCGGTCATAGGGCCC	0.592													C	43882701	T	C	43882701	3	2	211	1	0	0	0	0	1	0	0	0	7320	1667	58	3	619	3	HNRNPF	10	43882701	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	15653858	43882701	91652046	42	14507											
PTEN	5728	broad.mit.edu	37	chr10	89717695	89717696	+	Frame_Shift_Ins	INS	-	-	T																															gggaagacaagttcatgtacINStttgagttccctcagccgtt																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:89717695_89717696insT	uc001kfb.3	+	6	1752_1753	c.720_721insT	c.(718-723)tactttfs	p.Y240fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	240	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.Y240*(3)|p.F241L(2)|p.F241S(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F241fs*1(2)|p.F241fs*17(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.K237_Y240>N(1)|p.F241fs*15(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTCATGTACTTTGAGTTCCC	0.411		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717696	-	T	89717695	7	5	211	1	0	1	1	0	0	0	0	0	12823	576	20	0	746	0	PTEN	10	89717695	Frame_Shift_Ins	INS	-	TCGA-28-5209-01A-01D-1486-08	45834994	89717695	45817052	43	14508											
PI4K2A	55361	broad.mit.edu	37	chr10	99426254	99426254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctcaggagatcaaaGatctgatccttccaaagata	14	12	6	9	0	3	4	2	1	2	3	6	5	5	4	2	1	0	0	2	1	3	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:99426254G>T	uc001kog.1	+	6	1201	c.1144G>T	c.(1144-1146)Gat>Tat	p.D382Y	PI4K2A_uc010qoy.1_Missense_Mutation_p.D352Y|PI4K2A_uc009xvw.1_Intron	NM_018425	NP_060895	Q9BTU6	P4K2A_HUMAN	Homo sapiens phosphatidylinositol 4-kinase type 2 alpha (PI4K2A), mRNA.	382	PI3K/PI4K.				phosphatidylinositol biosynthetic process	cytoplasm|integral to plasma membrane|membrane raft	1-phosphatidylinositol 4-kinase activity|ATP binding|magnesium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	12		Colorectal(252;0.162)		Epithelial(162;1.24e-10)|all cancers(201;1.2e-08)		GGAGATCAAAGATCTGATCCT	0.468													T	99426254	G	T	99426254	3	4	211	1	0	0	0	0	1	0	0	0	11948	942	33	4	1170	4	PI4K2A	10	99426254	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	9708559	99426254	36108493	44	14509											
BTRC	8945	broad.mit.edu	37	chr10	103190197	103190197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacccagggactggcgcactCacagctttccaggtactttc	9	9	9	14	1	1	0	1	0	0	0	3	1	2	1	2	3	3	3	2	3	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:103190197C>T	uc001kta.3	+	1	257	c.144C>T	c.(142-144)ctC>ctT	p.L48L	BTRC_uc001ksz.1_Intron|BTRC_uc001ktb.3_Intron|BTRC_uc001ktc.3_Silent_p.L48L	NM_033637	NP_378663	Q9Y297	FBW1A_HUMAN	Homo sapiens beta-transducin repeat containing (BTRC), transcript variant 1, mRNA.	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CTGGCGCACTCACAGCTTTCC	0.527													T	103190197	C	T	103190197	2	4	211	1	0	0	0	0	0	0	0	1	1579	813	29	2		2	BTRC	10	103190197	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	3763943	103190197	32344550	45	14510											
DMBT1	1755	broad.mit.edu	37	chr10	124345651	124345651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgagtggaggtcctataccGaggctcctggggcaccgtgt	6	8	15	12	3	0	0	0	0	0	0	2	3	2	1	5	5	1	2	5	5	2	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr10:124345651G>A	uc001lgk.1	+	15	1641	c.1535G>A	c.(1534-1536)cGa>cAa	p.R512Q	DMBT1_uc001lgl.1_Missense_Mutation_p.R502Q|DMBT1_uc001lgm.1_Intron|DMBT1_uc021qaf.1_Missense_Mutation_p.R512Q|DMBT1_uc021qag.1_Missense_Mutation_p.R502Q|DMBT1_uc021qah.1_Intron|DMBT1_uc009xzz.1_Missense_Mutation_p.R512Q|DMBT1_uc010qtx.1_Intron|DMBT1_uc009yaa.1_Intron	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	512	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTCCTATACCGAGGCTCCTGG	0.592													A	124345651	G	A	124345651	3	1	211	1	0	0	0	0	1	0	0	0	4616	1058	37	1	1597	1	DMBT1	10	124345651	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	21155454	124345651	11189096	46	14511											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5625849	5625849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttatcagagagaagaaaaCatcctggaaggcaagggaga	17	7	12	5	0	1	4	1	0	0	4	2	7	2	5	1	3	1	1	1	3	6	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:5625849C>A	uc001mbf.3	+	2	856	c.593C>A	c.(592-594)aCa>aAa	p.T198K	HBG1_uc001mak.1_Intron|TRIM6-TRIM34_uc009yeo.2_Missense_Mutation_p.T144K|TRIM6-TRIM34_uc010qzj.2_5'UTR|TRIM6-TRIM34_uc001mbc.2_Missense_Mutation_p.T170K|TRIM6-TRIM34_uc001mbe.3_5'UTR|TRIM6-TRIM34_uc001mbd.3_Missense_Mutation_p.T198K|TRIM6-TRIM34_uc010qzk.2_5'UTR|TRIM6-TRIM34_uc010qzl.2_Intron|TRIM6-TRIM34_uc009yep.1_5'Flank	NM_001003819	NP_067629	B2RNG4	B2RNG4_HUMAN	Homo sapiens TRIM6-TRIM34 readthrough (TRIM6-TRIM34), mRNA.	198						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		GAGAAGAAAACATCCTGGAAG	0.468													A	5625849	C	A	5625849	3	1	211	1	0	0	0	0	1	0	0	0	16635	478	17	4	603	4	TRIM6-TRIM34	11	5625849	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		5625849	129380667	47	14512											
COPB1	1315	broad.mit.edu	37	chr11	14498486	14498486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaagggacctgcggatCtcagtcatcacactctgaat	10	10	8	13	1	5	1	3	1	3	0	7	3	5	3	2	2	1	0	2	2	2	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:14498486C>A	uc001mlh.2	-	11	1680	c.1434G>T	c.(1432-1434)gaG>gaT	p.E478D	COPB1_uc001mli.2_Missense_Mutation_p.E478D|COPB1_uc001mlg.2_Missense_Mutation_p.E478D|U7_uc021qee.1_5'Flank	NM_001144061	NP_057535	P53618	COPB_HUMAN	Homo sapiens coatomer protein complex, subunit beta 1 (COPB1), transcript variant 2, mRNA.	478					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						ACCTGCGGATCTCAGTCATCA	0.373													A	14498486	C	A	14498486	3	1	211	1	0	0	0	0	1	0	0	0	3759	912	32	4	1471	4	COPB1	11	14498486	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	8872637	14498486	120508030	48	14513											
KCNA4	3739	broad.mit.edu	37	chr11	30033178	30033178	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgaagtatcattcaacaAcccaccatgcccgccagcac	12	7	6	16	1	2	1	2	1	0	0	2	1	2	1	4	0	5	3	4	0	4	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:30033178A>T	uc021qfi.1	-	0	1048	c.1048T>A	c.(1048-1050)Ttg>Atg	p.L350M	KCNA4_uc001msk.3_Missense_Mutation_p.L350M	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	350						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						TCATTCAACAACCCACCATGC	0.478													T	30033178	A	T	30033178	3	4	211	1	0	0	0	0	1	0	0	0	8063	40	2	5	917	5	KCNA4	11	30033178	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	15534692	30033178	104973338	49	14514											
LRP4	4038	broad.mit.edu	37	chr11	46900805	46900805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctgccagtcagtccaaTagatgcgctctccatagagg	9	10	11	11	1	3	2	1	0	2	2	5	2	4	2	3	2	2	1	3	2	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:46900805T>C	uc001ndn.4	-	20	3119	c.2876A>G	c.(2875-2877)tAt>tGt	p.Y959C		NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	959					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTCAGTCCAATAGATGCGCTC	0.567													C	46900805	T	C	46900805	3	2	211	1	0	0	0	0	1	0	0	0	9029	1406	49	3	2913	3	LRP4	11	46900805	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	16867627	46900805	88105711	50	14515											
MS4A15	219995	broad.mit.edu	37	chr11	60531221	60531221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgatgtctgcagctccCgccagcaatggagtgtttgt	8	10	12	11	2	1	0	0	0	1	0	2	2	2	1	2	1	4	5	2	1	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:60531221C>T	uc009ynf.1	+	1	235	c.15C>T	c.(13-15)ccC>ccT	p.P5P	MS4A15_uc001npx.2_Intron|MS4A15_uc001npy.2_Non-coding_Transcript|MS4A15_uc009yng.1_Silent_p.P5P	NM_001098835	NP_689930	Q8N5U1	M4A15_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 15 (MS4A15), transcript variant 1, mRNA.	5						integral to membrane	receptor activity			breast(1)|large_intestine(2)|lung(3)	6						CTGCAGCTCCCGCCAGCAATG	0.527													T	60531221	C	T	60531221	2	4	211	1	0	0	0	0	0	0	0	1	9935	639	23	1		1	MS4A15	11	60531221	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13630416	60531221	74475295	51	14516											
PGA5	5222	broad.mit.edu	37	chr11	61018718	61018718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttaccgtcttcgacaggGcaaacaaccaggtcggcctg	10	8	10	13	3	1	0	0	0	1	0	3	1	1	0	3	3	3	1	3	3	3	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:61018718G>A	uc001nqz.3	+	8	1187	c.1132G>A	c.(1132-1134)Gca>Aca	p.A378T		NM_014224	NP_055039	P00790	PEPA_HUMAN	Homo sapiens pepsinogen 5, group I (pepsinogen A) (PGA5), mRNA.	378					digestion|proteolysis	extracellular region	aspartic-type endopeptidase activity			large_intestine(1)|skin(1)	2						CTTCGACAGGGCAAACAACCA	0.557													A	61018718	G	A	61018718	3	1	211	1	0	0	0	0	1	0	0	0	11849	1203	42	2	1166	2	PGA5	11	61018718	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	487497	61018718	73987798	52	14517											
MMP27	64066	broad.mit.edu	37	chr11	102573550	102573550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accacccagacccggaccagGaggaaaggcatggccaagca	14	1	12	14	1	0	1	0	0	0	1	0	4	0	4	5	5	1	2	5	5	2	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:102573550G>A	uc001phd.1	-	3	576	c.553C>T	c.(553-555)Cct>Tct	p.P185S		NM_022122	NP_071405	Q9H306	MMP27_HUMAN	Homo sapiens matrix metallopeptidase 27 (MMP27), mRNA.	185					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		CCCGGACCAGGAGGAAAGGCA	0.458													A	102573550	G	A	102573550	3	1	211	1	0	0	0	0	1	0	0	0	9740	1174	41	2	1016	2	MMP27	11	102573550	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	41554832	102573550	32432966	53	14518											
DSCAML1	57453	broad.mit.edu	37	chr11	117342628	117342628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccttgcttggttcactgCggccaatcttgttgaaagag	7	13	11	10	1	2	2	1	1	1	1	3	2	3	2	2	2	2	4	2	2	2	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr11:117342628C>T	uc001prh.1	-	14	3091	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H		NM_020693	NP_065744	Q8TD84	DSCL1_HUMAN	Homo sapiens Down syndrome cell adhesion molecule like 1 (DSCAML1), mRNA.	970	Fibronectin type-III 2.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTTCACTGCGGCCAATCTT	0.587													T	117342628	C	T	117342628	3	4	211	1	0	0	0	0	1	0	0	0	4808	768	27	1	3328	1	DSCAML1	11	117342628	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	14769078	117342628	17663888	54	14519											
DPPA3	359787	broad.mit.edu	37	chr12	7869602	7869602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccctgcagtttctgcGtgtctaatggatgggatcct	7	14	11	9	1	2	0	0	0	2	0	4	2	4	2	2	2	2	2	2	2	2	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:7869602G>A	uc001qtf.3	+	3	487	c.409G>A	c.(409-411)Gtg>Atg	p.V137M		NM_199286	NP_954980	Q6W0C5	DPPA3_HUMAN	Homo sapiens developmental pluripotency associated 3 (DPPA3), mRNA.	137						cytoplasm|nucleus		p.V137M(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CAGTTTCTGCGTGTCTAATGG	0.378													A	7869602	G	A	7869602	3	1	211	1	0	0	0	0	1	0	0	0	4774	1145	40	1	423	1	DPPA3	12	7869602	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		7869602	125982293	55	14520											
CLEC4E	26253	broad.mit.edu	37	chr12	8689778	8689778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagttctttaaacttaacGcccaggaaatggtgtcagta	13	11	9	8	1	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	5	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:8689778G>A	uc001quo.1	-	3	470	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_014358	NP_055173	Q9ULY5	CLC4E_HUMAN	Homo sapiens C-type lectin domain family 4, member E (CLEC4E), mRNA.	102	C-type lectin.					integral to membrane	sugar binding	p.W101C(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					TAAACTTAACGCCCAGGAAAT	0.458													A	8689778	G	A	8689778	3	1	211	1	0	0	0	0	1	0	0	0	3546	1087	38	1	366	1	CLEC4E	12	8689778	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	820176	8689778	125162117	56	14521											
ABCC9	10060	broad.mit.edu	37	chr12	21991021	21991021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttactcacctaaaggccCgaatggtggtgagtccttct	8	13	10	10	1	2	1	1	1	1	0	3	2	3	1	3	3	1	1	3	3	4	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:21991021C>T	uc001rfh.3	-	27	3577	c.3557G>A	c.(3556-3558)cGg>cAg	p.R1186Q	ABCC9_uc001rfi.1_Missense_Mutation_p.R1186Q	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1186	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity	p.R1186L(3)		NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CCTAAAGGCCCGAATGGTGGT	0.423													T	21991021	C	T	21991021	3	4	211	1	0	0	0	0	1	0	0	0	59	652	23	1	1278	1	ABCC9	12	21991021	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	13301243	21991021	111860874	57	14522											
ADCY6	112	broad.mit.edu	37	chr12	49164592	49164592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggagtgctcattgatgtgCttcatctgctccatgagccg	8	12	11	10	1	3	2	2	2	1	0	4	3	4	3	2	1	4	3	2	1	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49164592C>T	uc001rsh.4	-	18	3873	c.3213G>A	c.(3211-3213)aaG>aaA	p.K1071K	ADCY6_uc001rsi.4_Silent_p.K1018K|ADCY6_uc001rsj.4_Silent_p.K1071K|ADCY6_uc010slw.1_3'UTR	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	1071					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CATTGATGTGCTTCATCTGCT	0.552													T	49164592	C	T	49164592	2	4	211	1	0	0	0	0	0	0	0	1	298	796	28	2		2	ADCY6	12	49164592	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	27173571	49164592	84687303	58	14523											
CACNB3	784	broad.mit.edu	37	chr12	49221583	49221583	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctgcctagtgctaacggGcatgacccccaagaccggct	8	6	13	14	2	0	2	0	1	0	1	0	2	0	2	4	3	3	4	4	3	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49221583G>A	uc001rsl.2	+	12	1815	c.1356G>A	c.(1354-1356)ggG>ggA	p.G452G	CACNB3_uc010sly.2_Silent_p.G439G|CACNB3_uc010slz.2_Silent_p.G451G|CACNB3_uc001rsk.2_Silent_p.G299G|CACNB3_uc021qxm.1_Silent_p.G411G	NM_000725	NP_000716	P54284	CACB3_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 3 subunit (CACNB3), transcript variant 1, mRNA.	452					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	GTGCTAACGGGCATGACCCCC	0.622													A	49221583	G	A	49221583	2	1	211	1	0	0	0	0	0	0	0	1	2580	1190	42	2		2	CACNB3	12	49221583	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	56991	49221583	84630312	59	14524											
TUBA1B	10376	broad.mit.edu	37	chr12	49523423	49523423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggccatcgggctggatgCcgtgttccaggcagtagagc	6	9	15	11	2	1	1	0	0	1	1	3	2	2	2	3	4	2	4	3	4	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:49523423C>T	uc001rtm.3	-	1	307	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBA1B_uc021qxn.1_5'Flank|TUBA1B_uc001rtl.3_5'UTR	NM_006082	NP_006073	P68363	TBA1B_HUMAN	Homo sapiens tubulin, alpha 1b (TUBA1B), mRNA.	29					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGGCTGGATGCCGTGTTCCAG	0.582													T	49523423	C	T	49523423	3	4	211	1	0	0	0	0	1	0	0	0	16846	739	26	2	1281	2	TUBA1B	12	49523423	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	301840	49523423	84328472	60	14525											
KRT1	3848	broad.mit.edu	37	chr12	53072002	53072002	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttgttgatttcatccTcatacctgcaggaaagcaga	10	12	8	11	1	2	2	2	1	0	1	4	3	4	3	3	1	3	4	3	1	2	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:53072002T>C	uc001sau.1	-	2	871	c.812A>G	c.(811-813)gAg>gGg	p.E271G	KRT1_uc001sav.1_Missense_Mutation_p.E271G	NM_006121	NP_006112	P04264	K2C1_HUMAN	Homo sapiens keratin 1 (KRT1), mRNA.	271	Coil 1B.|Rod.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding	p.E271Q(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GATTTCATCCTCATACCTGCA	0.403													C	53072002	T	C	53072002	3	2	211	1	0	0	0	0	1	0	0	0	8505	1551	54	3	1150	3	KRT1	12	53072002	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	3548579	53072002	80779893	61	14526											
TRHDE	29953	broad.mit.edu	37	chr12	73046818	73046818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatctgtcactgaatTctgaggtggtgctggatcaa	10	14	10	7	0	5	2	2	2	3	0	5	3	5	3	0	3	1	1	0	3	4	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:73046818T>A	uc001sxa.3	+	16	2761	c.2731T>A	c.(2731-2733)Tct>Act	p.S911T		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	911					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GTCACTGAATTCTGAGGTGGT	0.343													A	73046818	T	A	73046818	3	1	211	1	0	0	0	0	1	0	0	0	16580	1783	62	5	2797	5	TRHDE	12	73046818	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	19974816	73046818	60805077	62	14527											
NUDT4	11163	broad.mit.edu	37	chr12	93792556	93792556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcaagcagaaccaagacCgaaagcacagaacatatgtt	18	7	7	9	1	1	3	1	0	0	3	1	4	1	3	2	0	4	3	2	0	7	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:93792556C>T	uc010sup.2	+	3	666	c.268C>T	c.(268-270)Cga>Tga	p.R90*	NUDT4_uc001tcm.3_Nonsense_Mutation_p.R89*|NUDT4_uc001tcn.3_Nonsense_Mutation_p.R37*|NUDT4_uc010suq.2_Nonsense_Mutation_p.R38*|NUDT4_uc001tco.3_Nonsense_Mutation_p.R37*	NM_199040	NP_950241	Q9NZJ9	NUDT4_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 4 (NUDT4), transcript variant 2, mRNA.	89	Nudix hydrolase.|Substrate binding (By similarity).				calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						GAACCAAGACCGAAAGCACAG	0.343													T	93792556	C	T	93792556	4	4	211	1	0	0	0	0	0	1	0	0	10817	644	23	1	282	1	NUDT4	12	93792556	Nonsense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	20745738	93792556	40059339	63	14528											
MTERFD3	80298	broad.mit.edu	37	chr12	107371336	107371336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaacaacagtcagtatgtCattcttcaacatttaatggt	14	13	6	8	0	4	0	3	0	1	0	4	0	4	0	0	1	4	2	0	1	5	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:107371336C>T	uc001tme.1	-	1	2976	c.1157G>A	c.(1156-1158)tGa>tAa	p.*386*	MTERFD3_uc001tmf.1_Silent_p.*386*|MTERFD3_uc001tmg.1_Silent_p.*386*|MTERFD3_uc021rdh.1_Splice_Site_p.*386_splice|MTERFD3_uc001tmh.1_Splice_Site	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCAGTATGTCATTCTTCAAC	0.358													T	107371336	C	T	107371336	2	4	211	1	0	0	0	0	0	0	0	1	9997	837	29	2		2	MTERFD3	12	107371336	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13578780	107371336	26480559	64	14529											
WSCD2	9671	broad.mit.edu	37	chr12	108603986	108603986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgagcgaggcagagtgcGacatggagtgcaagggcgag	11	4	19	7	4	0	2	0	1	0	1	0	6	0	3	0	3	3	2	0	3	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr12:108603986G>A	uc001tms.3	+	3	1330	c.586G>A	c.(586-588)Gac>Aac	p.D196N	WSCD2_uc001tmt.3_Missense_Mutation_p.D196N	NM_014653	NP_055468	Q2TBF2	WSCD2_HUMAN	Homo sapiens WSC domain containing 2 (WSCD2), mRNA.	196	WSC 1.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GGCAGAGTGCGACATGGAGTG	0.682													A	108603986	G	A	108603986	3	1	211	1	0	0	0	0	1	0	0	0	17509	1058	37	1	596	1	WSCD2	12	108603986	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	1232650	108603986	25247909	65	14530											
TUBA3C	7278	broad.mit.edu	37	chr13	19752451	19752451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgtaatggcctctggCgtaattattggccgcatctt	7	14	12	8	2	2	0	0	0	2	0	2	1	2	0	2	4	0	3	2	4	3	5	rs145210942		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:19752451C>T	uc009zzj.3	-	2	415	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	104					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.Y103*(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGGCCTCTGGCGTAATTATTG	0.532													T	19752451	C	T	19752451	3	4	211	1	0	0	0	0	1	0	0	0	16848	768	27	1	1054	1	TUBA3C	13	19752451	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		19752451	95417427	66	14531											
FLT3	2322	broad.mit.edu	37	chr13	28636176	28636176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctctggggtctcaacgCacacccgaggtcttccgggg	6	8	14	13	3	3	1	1	1	3	0	5	2	4	1	2	5	2	2	2	5	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:28636176C>T	uc001urw.3	-	2	278	c.196G>A	c.(196-198)Gcg>Acg	p.A66T	FLT3_uc010aao.3_Non-coding_Transcript|FLT3_uc010tdn.2_Missense_Mutation_p.A66T	NM_004119	NP_004110	P36888	FLT3_HUMAN	Homo sapiens fms-related tyrosine kinase 3 (FLT3), mRNA.	66					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.A66A(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	GGTCTCAACGCACACCCGAGG	0.532			"Mis, O"		"AML, ALL"								T	28636176	C	T	28636176	3	4	211	1	0	0	0	0	1	0	0	0	5991	710	25	2	2873	2	FLT3	13	28636176	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	8883725	28636176	86533702	67	14532											
SUCLA2	8803	broad.mit.edu	37	chr13	48571116	48571116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgctgttgctgctgtaCttggagtccatggttattaa	6	17	10	8	0	0	0	0	0	0	0	1	1	1	1	2	2	4	6	2	2	3	6			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:48571116C>T	uc001vbs.3	-	1	190	c.133G>A	c.(133-135)Gta>Ata	p.V45I	SUCLA2_uc010tgb.2_5'UTR|SUCLA2_uc010tgc.2_5'UTR|SUCLA2_uc010tgd.2_5'UTR	NM_003850	NP_003841	Q9P2R7	SUCB1_HUMAN	Homo sapiens succinate-CoA ligase, ADP-forming, beta subunit (SUCLA2), nuclear gene encoding mitochondrial protein, mRNA.	45					succinyl-CoA pathway|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(4)	15		all_cancers(8;1.13e-24)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|Lung NSC(96;0.000226)|all_hematologic(8;0.000885)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;2.1e-06)	Succinic acid(DB00139)	TGCTGCTGTACTTGGAGTCCA	0.403													T	48571116	C	T	48571116	3	4	211	1	0	0	0	0	1	0	0	0	15459	565	20	2	1298	2	SUCLA2	13	48571116	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	19934940	48571116	66598762	68	14533											
KLF5	688	broad.mit.edu	37	chr13	73636601	73636601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccttgcacatacacaatGccaagtcagtttcttccaca	11	10	4	16	0	2	0	1	0	1	0	3	0	3	0	4	0	3	2	4	0	3	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr13:73636601G>A	uc001vje.3	+	1	1188	c.864G>A	c.(862-864)atG>atA	p.M288I	KLF5_uc001vjd.3_Missense_Mutation_p.M197I	NM_001730	NP_001721	Q13887	KLF5_HUMAN	Homo sapiens Kruppel-like factor 5 (intestinal) (KLF5), mRNA.	288					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		CATACACAATGCCAAGTCAGT	0.522													A	73636601	G	A	73636601	3	1	211	1	0	0	0	0	1	0	0	0	8407	1319	46	2	870	2	KLF5	13	73636601	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	25065485	73636601	41533277	69	14534											
FOXG1	2290	broad.mit.edu	37	chr14	29237185	29237185	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatccgccacaatctgTccctcaacaagtgcttcgtg	9	10	6	16	2	2	0	1	0	1	0	6	0	5	0	4	0	2	1	4	0	3	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:29237185T>G	uc001wqe.3	+	0	899	c.700T>G	c.(700-702)Tcc>Gcc	p.S234A		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	234					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		CCACAATCTGTCCCTCAACAA	0.587													G	29237185	T	G	29237185	3	3	211	1	0	0	0	0	1	0	0	0	6058	1667	58	5	702	5	FOXG1	14	29237185	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08		29237185	78112355	70	14535											
SIPA1L1	26037	broad.mit.edu	37	chr14	72176033	72176033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtggtacgatggggaccGcacagaatccgaactcaaca	14	5	12	10	3	1	1	1	0	0	1	2	5	2	2	2	3	3	2	2	3	5	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:72176033G>A	uc001xms.3	+	14	4284	c.3923G>A	c.(3922-3924)cGc>cAc	p.R1308H	SIPA1L1_uc001xmt.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmu.3_Missense_Mutation_p.R1287H|SIPA1L1_uc001xmv.3_Missense_Mutation_p.R1308H|SIPA1L1_uc010ttm.2_Missense_Mutation_p.R762H	NM_015556	NP_056371	O43166	SI1L1_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 1 (SIPA1L1), mRNA.	1308	Ser-rich.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GATGGGGACCGCACAGAATCC	0.537													A	72176033	G	A	72176033	3	1	211	1	0	0	0	0	1	0	0	0	14423	1087	38	1	3977	1	SIPA1L1	14	72176033	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	42938848	72176033	35173507	71	14536											
AHNAK2	113146	broad.mit.edu	37	chr14	105413876	105413876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggctgtcacacccttgtCggccagggacaggtccccct	5	10	11	15	1	1	0	1	0	0	0	3	1	2	1	4	4	0	1	4	4	0	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr14:105413876C>T	uc010axc.1	-	6	8032	c.7912G>A	c.(7912-7914)Gac>Aac	p.D2638N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.D2538N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2638						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACACCCTTGTCGGCCAGGGAC	0.602													T	105413876	C	T	105413876	3	4	211	1	0	0	0	0	1	0	0	0	415	884	31	1	9479	1	AHNAK2	14	105413876	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	33237843	105413876	1935664	72	14537											
SPG11	80208	broad.mit.edu	37	chr15	44858195	44858195	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacagtgctgggcctgtcGcacacaggagtcctgaggaa	9	7	14	11	1	0	2	0	2	0	0	2	4	1	4	2	3	1	2	2	3	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr15:44858195G>A	uc001ztx.3	-	37	6887	c.6856C>T	c.(6856-6858)Cga>Tga	p.R2286*	SPG11_uc010bdw.3_Nonsense_Mutation_p.R416*|SPG11_uc010ueh.2_Nonsense_Mutation_p.R2173*|SPG11_uc010uei.2_Intron	NM_025137	NP_079413	Q96JI7	SPTCS_HUMAN	Homo sapiens spastic paraplegia 11 (autosomal recessive) (SPG11), transcript variant 1, mRNA.	2286					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TGGGCCTGTCGCACACAGGAG	0.532													A	44858195	G	A	44858195	4	1	211	1	0	0	0	0	0	1	0	0	15137	1095	38	1	487	1	SPG11	15	44858195	Nonsense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		44858195	57673197	73	14538											
ACSM2A	123876	broad.mit.edu	37	chr16	20492203	20492203	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccctgctgtggttgAgacggctgtgatcagcagcc	7	8	15	11	1	1	2	1	2	0	1	1	4	1	3	2	3	4	5	2	3	0	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:20492203A>T	uc010bwe.3	+	12	1708	c.1469A>T	c.(1468-1470)gAg>gTg	p.E490V	ACSM2A_uc010vax.1_Missense_Mutation_p.E411V|ACSM2A_uc002dhf.4_Missense_Mutation_p.E490V|ACSM2A_uc002dhg.4_Missense_Mutation_p.E490V|ACSM2A_uc010vay.2_Missense_Mutation_p.E411V|ACSM2A_uc002dhh.4_Missense_Mutation_p.E120V	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	490					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGTGGTTGAGACGGCTGTG	0.562													T	20492203	A	T	20492203	3	4	211	1	0	0	0	0	1	0	0	0	183	304	11	5	1511	5	ACSM2A	16	20492203	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08		20492203	69862550	74	14539											
DNAH3	55567	broad.mit.edu	37	chr16	21128600	21128600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacaagtttttcttctgCgttaacagttccaaggagca	13	12	8	8	1	2	1	0	0	2	1	3	2	3	2	1	1	4	4	1	1	4	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:21128600C>T	uc010vbe.2	-	11	1738	c.1738G>A	c.(1738-1740)Gca>Aca	p.A580T	DNAH3_uc002die.2_Missense_Mutation_p.A520T	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	580	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TTTTCTTCTGCGTTAACAGTT	0.358													T	21128600	C	T	21128600	3	4	211	1	0	0	0	0	1	0	0	0	4642	768	27	1	10815	1	DNAH3	16	21128600	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	636397	21128600	69226153	75	14540											
CHP2	63928	broad.mit.edu	37	chr16	23768582	23768582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggagaacatcgctgacCgcacggtgcaggaggctgat	10	6	15	10	3	0	3	0	2	0	1	1	5	0	4	1	4	3	5	1	4	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:23768582C>T	uc002dmb.1	+	5	898	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_022097	NP_071380	O43745	CHP2_HUMAN	Homo sapiens calcineurin B homologous protein 2 (CHP2), mRNA.	159	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		CATCGCTGACCGCACGGTGCA	0.577													T	23768582	C	T	23768582	3	4	211	1	0	0	0	0	1	0	0	0	3397	652	23	1	497	1	CHP2	16	23768582	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2639982	23768582	66586171	76	14541											
SLC38A7	55238	broad.mit.edu	37	chr16	58709937	58709937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcatgctgttgaagaCgggcacactgctgacgtggc	7	9	14	11	2	0	3	0	2	0	1	0	3	0	3	0	2	4	6	0	2	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr16:58709937C>T	uc002eod.1	-	7	1183	c.790G>A	c.(790-792)Gtc>Atc	p.V264I	SLC38A7_uc002eoc.1_Missense_Mutation_p.V264I|SLC38A7_uc010vil.1_Missense_Mutation_p.V175I|SLC38A7_uc002eoe.1_Missense_Mutation_p.V264I	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	264					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						CTGTTGAAGACGGGCACACTG	0.572													T	58709937	C	T	58709937	3	4	211	1	0	0	0	0	1	0	0	0	14703	536	19	1	618	1	SLC38A7	16	58709937	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	34941355	58709937	31644816	77	14542											
ATP2A3	489	broad.mit.edu	37	chr17	3840720	3840720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcctcaccagacgacctCgccaacattggaggagatga	11	5	11	14	3	1	3	1	1	0	2	2	6	1	4	5	3	1	0	5	3	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:3840720C>T	uc002fwy.2	-	14	2484	c.2311G>A	c.(2311-2313)Gag>Aag	p.E771K	ATP2A3_uc002fwz.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxa.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxb.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxc.2_Missense_Mutation_p.E771K|ATP2A3_uc002fxd.2_Missense_Mutation_p.E771K|ATP2A3_uc002fwx.2_Missense_Mutation_p.E771K	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	771					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGACGACCTCGCCAACATTG	0.602													T	3840720	C	T	3840720	3	4	211	1	0	0	0	0	1	0	0	0	1143	893	31	1	927	1	ATP2A3	17	3840720	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		3840720	77354490	78	14543											
C17orf59	54785	broad.mit.edu	37	chr17	8092644	8092645	+	Missense_Mutation	DNP	CC	CC	AA																															gcagacggtccacccggcctCccagctcccgactcaaccgc																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:8092644_8092645CC>AA	uc010vut.2	-	0	920_921	c.814_815GG>TT	c.(814-816)gga>TTa	p.G272L		NM_017622	NP_060092	Q96GS4	CQ059_HUMAN	Homo sapiens chromosome 17 open reading frame 59 (C17orf59), mRNA.	272										large_intestine(2)|lung(3)|urinary_tract(1)	6						CACCCGGCCTCCCAGCTCCCGA	0.703													AA	8092645	CC	AA	8092644	3	1	211	1	0	0	0	0	1	0	0	0	1883	855	30	4	262	4	C17orf59	17	8092644	Missense_Mutation	DNP	CC	TCGA-28-5209-01A-01D-1486-08	4251924	8092644	73102566	79	14544											
TAOK1	57551	broad.mit.edu	37	chr17	27778581	27778593	+	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	CAGAGCAGGCAGC	-																															agcaggatgccatcaactaaCagagcaggcagcctgaagga																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr17:27778581_27778593delCAGAGCAGGCAGC	uc002hdz.2	+	1	209_221	c.15_27delCAGAGCAGGCAGC	c.(13-27)aacagagcaggcagcfs	p.N5fs	TAOK1_uc010wbe.2_Frame_Shift_Del_p.N5fs	NM_020791	NP_065842	Q7L7X3	TAOK1_HUMAN	Homo sapiens TAO kinase 1 (TAOK1), transcript variant 1, mRNA.	5					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATCAACTAACAGAGCAGGCAGCCTGAAGGACC	0.46													-	27778593	CAGAGCAGGCAGC	-	27778581	7	5	211	1	0	1	0	1	0	0	0	0	15644	477	17	0	17	0	TAOK1	17	27778581	Frame_Shift_Del	DEL	CAGAGCAGGCAGC	TCGA-28-5209-01A-01D-1486-08	19685937	27778581	53416629	80	14545											
LAMA1	284217	broad.mit.edu	37	chr18	6965403	6965403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaccttcactctgccaCgaaacagctcgatggataaa	14	9	6	12	2	3	0	2	0	1	0	4	3	3	1	2	1	4	1	2	1	4	3	rs141811330		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:6965403C>A	uc002knm.3	-	49	7173	c.7079G>T	c.(7078-7080)cGt>cTt	p.R2360L	LAMA1_uc002knl.3_5'UTR|LAMA1_uc010wzj.2_Missense_Mutation_p.R1836L	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2360	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CACTCTGCCACGAAACAGCTC	0.443													A	6965403	C	A	6965403	3	1	211	1	0	0	0	0	1	0	0	0	8664	536	19	4	2204	4	LAMA1	18	6965403	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		6965403	71111845	81	14546											
AFG3L2	10939	broad.mit.edu	37	chr18	12351333	12351333	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcctgtcgaaacgcccCggcctaagcagcgcggggtc	7	6	13	15	5	1	0	0	0	1	0	3	1	1	0	4	3	4	1	4	3	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr18:12351333C>T	uc002kqz.2	-	10	1592	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P		NM_006796	NP_006787	Q9Y4W6	AFG32_HUMAN	Homo sapiens AFG3 ATPase family gene 3-like 2 (S. cerevisiae) (AFG3L2), nuclear gene encoding mitochondrial protein, mRNA.	466					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	CGAAACGCCCCGGCCTAAGCA	0.463													T	12351333	C	T	12351333	2	4	211	1	0	0	0	0	0	0	0	1	360	639	23	1		1	AFG3L2	18	12351333	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	5385930	12351333	65725915	82	14547											
TMPRSS9	360200	broad.mit.edu	37	chr19	2418090	2418090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacttctccctcacagaccGcatgatctgcgcaggcttcc	8	9	7	17	2	3	2	1	1	2	1	5	2	4	2	3	1	2	3	3	1	1	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:2418090G>A	uc010xgx.2	+	11	2006	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H		NM_182973	NP_892018	Q7Z410	TMPS9_HUMAN	Homo sapiens transmembrane protease, serine 9 (TMPRSS9), mRNA.	669	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		CTCACAGACCGCATGATCTGC	0.557													A	2418090	G	A	2418090	3	1	211	1	0	0	0	0	1	0	0	0	16353	1087	38	1	2052	1	TMPRSS9	19	2418090	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08		2418090	56710893	83	14548											
ZNF358	140467	broad.mit.edu	37	chr19	7585507	7585507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcaccagctctggccGcaaccctgaccctggctctg	5	7	10	19	1	2	1	0	1	2	0	2	1	2	1	5	3	2	4	5	3	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:7585507G>A	uc002mgn.2	+	1	1549	c.1379G>A	c.(1378-1380)cGc>cAc	p.R460H	ZNF358_uc021unu.1_Missense_Mutation_p.R460H|MCOLN1_uc010dvh.2_5'Flank|MCOLN1_uc002mgo.3_5'Flank|MCOLN1_uc002mgp.3_5'Flank	NM_018083	NP_060553	Q9NW07	ZN358_HUMAN	Homo sapiens zinc finger protein 358 (ZNF358), mRNA.	460					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						agctctggccgcaaccctgac	0.667													A	7585507	G	A	7585507	3	1	211	1	0	0	0	0	1	0	0	0	17968	1087	38	1	1381	1	ZNF358	19	7585507	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	5167417	7585507	51543476	84	14549											
ICAM1	3383	broad.mit.edu	37	chr19	10394191	10394191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaactggcacccctcccCtcttggcagccagtgggcaa	7	7	12	15	0	1	0	0	0	1	0	2	1	2	1	5	4	2	3	5	4	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:10394191C>T	uc002mnq.2	+	2	685	c.366C>T	c.(364-366)ccC>ccT	p.P122P	ICAM1_uc010xle.1_Intron	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	122					adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CACCCCTCCCCTCTTGGCAGC	0.637													T	10394191	C	T	10394191	2	4	211	1	0	0	0	0	0	0	0	1	7537	668	24	2		2	ICAM1	19	10394191	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	2808684	10394191	48734792	85	14550											
MAN2B1	4125	broad.mit.edu	37	chr19	12759205	12759205	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtccatcgtccttcagcagCcttcggtgcacctgggggga	5	9	13	14	3	1	0	1	0	0	0	5	1	3	1	4	4	3	2	4	4	0	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:12759205C>G	uc002mub.2	-	20	2524	c.2448G>C	c.(2446-2448)agG>agC	p.R816S	MAN2B1_uc010dyv.1_Missense_Mutation_p.R815S	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	816					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTTCAGCAGCCTTCGGTGCA	0.652													G	12759205	C	G	12759205	3	3	211	1	0	0	0	0	1	0	0	0	9291	738	26	4	603	4	MAN2B1	19	12759205	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	2365014	12759205	46369778	86	14551											
EMR2	30817	broad.mit.edu	37	chr19	14865775	14865775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggtctcacctgcacatcGtagtgggccatgaggacggc	9	7	14	11	2	1	1	1	1	1	0	3	2	1	2	2	4	1	2	2	4	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:14865775G>A	uc002mzp.1	-	13	2037	c.1581C>T	c.(1579-1581)taC>taT	p.Y527Y	EMR2_uc010dzs.1_Intron|EMR2_uc010xnw.1_Intron|EMR2_uc002mzo.1_Silent_p.Y516Y|EMR2_uc002mzq.1_Silent_p.Y467Y|EMR2_uc002mzr.1_Silent_p.Y478Y|EMR2_uc002mzs.1_Silent_p.Y385Y|EMR2_uc002mzt.1_Silent_p.Y423Y|EMR2_uc002mzu.1_Silent_p.Y434Y|EMR2_uc010xnx.1_Non-coding_Transcript|EMR2_uc010xny.1_Intron	NM_013447	NP_038475	Q9UHX3	EMR2_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 2 (EMR2), transcript variant 1, mRNA.	527	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CCTGCACATCGTAGTGGGCCA	0.527													A	14865775	G	A	14865775	2	1	211	1	0	0	0	0	0	0	0	1	5146	1140	40	1		1	EMR2	19	14865775	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	2106570	14865775	44263208	87	14552											
ZNF98	148198	broad.mit.edu	37	chr19	22575722	22575722	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgttctcagtatcactttTtggaaataattttttttgcc	9	21	5	6	0	2	0	2	0	1	0	3	1	2	1	1	1	1	2	1	1	4	10			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:22575722T>C	uc002nqt.2	-	3	437	c.315A>G	c.(313-315)caA>caG	p.Q105Q		NM_001098626	NP_001092096	A6NK75	ZNF98_HUMAN	Homo sapiens zinc finger protein 98 (ZNF98), mRNA.	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.F104I(1)		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)				GTATCACTTTTTGGAAATAAT	0.299													C	22575722	T	C	22575722	2	2	211	1	0	0	0	0	0	0	0	1	18302	1838	64	3		3	ZNF98	19	22575722	Silent	SNP	T	TCGA-28-5209-01A-01D-1486-08	7709947	22575722	36553261	88	14553											
GPATCH1	55094	broad.mit.edu	37	chr19	33585093	33585093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctagattatctgttggtttCgaattgctaagaaaaatggg	12	14	10	5	1	1	2	0	0	1	2	2	3	1	2	1	2	1	3	1	2	6	6	rs149673951		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:33585093C>T	uc002nug.1	+	4	785	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	157	G-patch.					catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					CTGTTGGTTTCGAATTGCTAA	0.393													T	33585093	C	T	33585093	2	4	211	1	0	0	0	0	0	0	0	1	6644	883	31	1		1	GPATCH1	19	33585093	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	11009371	33585093	25543890	89	14554											
NPHS1	4868	broad.mit.edu	37	chr19	36336653	36336653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caagtttaaggcgtctcccgGgcgcagtgcggatgcgttgg	6	9	16	10	5	1	0	0	0	1	0	2	1	1	1	1	4	2	3	1	4	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:36336653G>A	uc002oby.3	-	12	1831	c.1675C>T	c.(1675-1677)Ccg>Tcg	p.P559S		NM_004646	NP_004637	O60500	NPHN_HUMAN	Homo sapiens nephrosis 1, congenital, Finnish type (nephrin) (NPHS1), mRNA.	559	Ig-like C2-type 6.				cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCGTCTCCCGGGCGCAGTGCG	0.622													A	36336653	G	A	36336653	3	1	211	1	0	0	0	0	1	0	0	0	10658	1232	43	2	2118	2	NPHS1	19	36336653	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	2751560	36336653	22792330	90	14555											
PLEKHG2	64857	broad.mit.edu	37	chr19	39913516	39913516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctggagatggatgaacggGggccttccccactccacgtc	7	7	14	13	2	0	2	0	1	0	1	3	4	2	3	4	5	1	1	4	5	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:39913516G>A	uc010xuz.2	+	17	2147	c.1822G>A	c.(1822-1824)Ggg>Agg	p.G608R	PLEKHG2_uc010xuy.2_Missense_Mutation_p.G549R|PLEKHG2_uc002olj.3_Intron|PLEKHG2_uc010xva.2_Missense_Mutation_p.G386R	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	608					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATGAACGGGGGCCTTCCCC	0.587													A	39913516	G	A	39913516	3	1	211	1	0	0	0	0	1	0	0	0	12146	1232	43	2	1888	2	PLEKHG2	19	39913516	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	3576863	39913516	19215467	91	14556											
C5AR1	728	broad.mit.edu	37	chr19	47823297	47823297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacttcctctcctgcctggCgctgcccatcttgttcacgt	3	13	8	17	3	3	0	1	0	2	0	5	1	4	0	4	1	2	2	4	1	0	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:47823297C>T	uc002pgj.1	+	1	312	c.263C>T	c.(262-264)gCg>gTg	p.A88V		NM_001736	NP_001727	P21730	C5AR_HUMAN	Homo sapiens complement component 5a receptor 1 (C5AR1), mRNA.	88					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		TCCTGCCTGGCGCTGCCCATC	0.602													T	47823297	C	T	47823297	3	4	211	1	0	0	0	0	1	0	0	0	2303	768	27	1	268	1	C5AR1	19	47823297	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	7909781	47823297	11305686	92	14557											
SHANK1	50944	broad.mit.edu	37	chr19	51205832	51205832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagtagagcttcctccGcctcccgcggctgcccaggg	4	7	13	17	4	0	2	0	1	0	1	3	2	3	2	5	2	2	4	5	2	1	2	rs148526987		TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51205832G>A	uc002psx.1	-	10	1658	c.1639C>T	c.(1639-1641)Cgg>Tgg	p.R547W		NM_016148	NP_057232	Q9Y566	SHAN1_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 1 (SHANK1), mRNA.	547					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCTTCCTCCGCCTCCCGCGG	0.711													A	51205832	G	A	51205832	3	1	211	1	0	0	0	0	1	0	0	0	14358	1086	38	1	4898	1	SHANK1	19	51205832	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	3382535	51205832	7923151	93	14558											
CD33	945	broad.mit.edu	37	chr19	51729289	51729289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctgtcaggtgaagttcGctggagctggtgtgactacg	7	11	15	8	2	1	3	1	3	0	0	2	4	1	4	1	3	2	3	1	3	2	2	rs150408980	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:51729289G>A	uc002pwa.2	+	2	689	c.649G>A	c.(649-651)Gct>Act	p.A217T	CD33_uc010eos.1_Missense_Mutation_p.A217T|CD33_uc010eot.1_Missense_Mutation_p.A90T|CD33_uc010eou.1_Non-coding_Transcript	NM_001772	NP_001763	P20138	CD33_HUMAN	Homo sapiens CD33 molecule (CD33), transcript variant 1, mRNA.	217	Ig-like C2-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GGTGAAGTTCGCTGGAGCTGG	0.622													A	51729289	G	A	51729289	3	1	211	1	0	0	0	0	1	0	0	0	3035	1087	38	1	659	1	CD33	19	51729289	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	523457	51729289	7399694	94	14559											
PEG3	5178	broad.mit.edu	37	chr19	57326473	57326473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatccacaaagcccaggcCacagtcctcacattcataga	14	6	7	14	0	2	2	2	0	0	2	4	3	4	2	4	1	1	0	4	1	2	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57326473C>T	uc002qnu.2	-	6	3688	c.3337G>A	c.(3337-3339)Ggc>Agc	p.G1113S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G1084S|PEG3_uc002qnv.2_Missense_Mutation_p.G1113S|PEG3_uc002qnw.2_Missense_Mutation_p.G989S|PEG3_uc002qnx.2_Missense_Mutation_p.G987S|PEG3_uc010etr.2_Missense_Mutation_p.G1113S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1113					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGCCCAGGCCACAGTCCTCA	0.488													T	57326473	C	T	57326473	3	4	211	1	0	0	0	0	1	0	0	0	11796	594	21	2	1433	2	PEG3	19	57326473	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	5597184	57326473	1802510	95	14560											
ZNF543	125919	broad.mit.edu	37	chr19	57839653	57839653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacctcacacggcaccagCggattcacagtggagagaag	13	4	11	13	2	2	1	2	0	0	1	2	4	2	3	2	3	1	1	2	3	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr19:57839653C>T	uc002qoi.2	+	3	1180	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	275					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ACGGCACCAGCGGATTCACAG	0.527													T	57839653	C	T	57839653	3	4	211	1	0	0	0	0	1	0	0	0	18077	759	27	1	837	1	ZNF543	19	57839653	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	513180	57839653	1289330	96	14561											
RSPO4	343637	broad.mit.edu	37	chr20	948682	948682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtactggcggatgccttccCggcggatgaacaggaagagc	9	6	15	11	4	0	2	0	1	0	1	1	5	1	5	2	5	4	1	2	5	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:948682C>T	uc002wej.3	-	1	279	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	RSPO4_uc002wek.3_Missense_Mutation_p.R60Q	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	60					Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GATGCCTTCCCGGCGGATGAA	0.622													T	948682	C	T	948682	3	4	211	1	0	0	0	0	1	0	0	0	13803	652	23	1	541	1	RSPO4	20	948682	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		948682	62076838	97	14562											
PROKR2	128674	broad.mit.edu	37	chr20	5283318	5283318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaccatccagaccaaggCgatcaggaaggaggccgttt	12	5	13	11	2	1	1	1	0	0	1	2	5	2	4	4	5	0	1	4	5	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5283318C>T	uc010zqw.2	-	1	531	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	PROKR2_uc010zqx.2_Missense_Mutation_p.A175T|PROKR2_uc010zqy.2_Missense_Mutation_p.A175T	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	175						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.A175S(4)|p.I174N(1)|p.I174I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CAGACCAAGGCGATCAGGAAG	0.493										HNSCC(71;0.22)			T	5283318	C	T	5283318	3	4	211	1	0	0	0	0	1	0	0	0	12639	768	27	1	634	1	PROKR2	20	5283318	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	4334636	5283318	57742202	98	14563											
PROKR2	128674	broad.mit.edu	37	chr20	5294853	5294853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtgcaatgccaatgaCgatcttggctgcgaagaagg	11	8	13	9	2	1	2	0	1	1	1	1	4	1	2	2	2	4	2	2	2	4	1	rs146963803	by1000genomes	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:5294853C>T	uc010zqw.2	-	0	171	c.163G>A	c.(163-165)Gtc>Atc	p.V55I	PROKR2_uc010zqx.2_Missense_Mutation_p.V55I|PROKR2_uc010zqy.2_Missense_Mutation_p.V55I|AX746654_uc002wly.1_5'Flank	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	55						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.I54I(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATGCCAATGACGATCTTGGCT	0.517										HNSCC(71;0.22)			T	5294853	C	T	5294853	3	4	211	1	0	0	0	0	1	0	0	0	12639	536	19	1	998	1	PROKR2	20	5294853	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	11535	5294853	57730667	99	14564											
PCSK2	5126	broad.mit.edu	37	chr20	17434533	17434533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggactgccctgtacgaCgagagctgctcttccacctt	7	9	11	14	2	1	1	0	0	1	1	2	4	2	2	3	2	4	4	3	2	1	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr20:17434533C>T	uc002wpm.3	+	8	1386	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_uc002wpl.3_Silent_p.D325D|PCSK2_uc010zrm.2_Silent_p.D309D	NM_002594	NP_001188457	P16519	NEC2_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 2 (PCSK2), transcript variant 1, mRNA.	344	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D344D(2)|p.Y343Y(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTGTACGACGAGAGCTGCT	0.597													T	17434533	C	T	17434533	2	4	211	1	0	0	0	0	0	0	0	1	11677	535	19	1		1	PCSK2	20	17434533	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	12139680	17434533	45590987	100	14565											
TPTE	7179	broad.mit.edu	37	chr21	10951332	10951332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatagctagagaaatagaaCgatactccaaaggaatataa	21	7	7	6	1	0	2	0	0	0	2	1	5	1	3	1	1	3	1	1	1	11	6	rs113140892	byFrequency	TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:10951332C>T	uc002yip.1	-	9	748	c.380G>A	c.(379-381)cGt>cAt	p.R127H	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.R109H|TPTE_uc002yir.1_Missense_Mutation_p.R89H|TPTE_uc010gkv.1_5'UTR	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	127					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R126Q(1)|p.R126*(1)|p.R109H(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AGAAATAGAACGATACTCCAA	0.338													T	10951332	C	T	10951332	3	4	211	1	0	0	0	0	1	0	0	0	16531	536	19	1	1335	1	TPTE	21	10951332	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		10951332	37178563	101	14566											
ITGB2	3689	broad.mit.edu	37	chr21	46320316	46320316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggcgcccagcttcccGtcgcccgcgaaatggaagcc	8	5	13	15	5	0	0	0	0	0	0	2	3	1	2	4	3	2	1	4	3	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr21:46320316G>A	uc002zgd.2	-	5	860	c.816C>T	c.(814-816)gaC>gaT	p.D272D	ITGB2_uc002zgf.3_Silent_p.D272D|ITGB2_uc011afl.1_Silent_p.D194D|ITGB2_uc010gpw.2_Silent_p.D215D|ITGB2_uc002zgg.2_Silent_p.D272D	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	272	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCTTCCCGTCGCCCGCGA	0.632													A	46320316	G	A	46320316	2	1	211	1	0	0	0	0	0	0	0	1	7952	1136	40	1		1	ITGB2	21	46320316	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	35368984	46320316	1809579	102	14567											
ZNF280B	140883	broad.mit.edu	37	chr22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcacacatagggcatttCgccaggcttatgatggtcct	8	11	11	11	1	0	1	0	1	0	0	2	1	1	1	2	4	0	3	2	4	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22842526C>T	uc002zwc.1	-	3	1974	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433													T	22842526	C	T	22842526	3	4	211	1	0	0	0	0	1	0	0	0	17916	893	31	1	437	1	ZNF280B	22	22842526	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08		22842526	28462040	103	14568											
ZNF280A	129025	broad.mit.edu	37	chr22	22868784	22868784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcacacgtagggcatttCgccaggcttatgatggtcct	7	11	12	11	2	0	1	0	1	0	0	2	1	1	1	2	4	0	4	2	4	2	3			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:22868784C>T	uc002zwe.3	-	1	1424	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.E391K	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E391K(2)		endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.453													T	22868784	C	T	22868784	3	4	211	1	0	0	0	0	1	0	0	0	17915	893	31	1	461	1	ZNF280A	22	22868784	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	26258	22868784	28435782	104	14569											
AP1B1	162	broad.mit.edu	37	chr22	29754763	29754763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagggtgtccaggaagccCtggtcctccaccagctgggc	7	8	13	13	0	0	0	0	0	0	0	3	1	3	1	5	4	2	1	5	4	2	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:29754763C>A	uc003afj.3	-	4	664	c.477G>T	c.(475-477)caG>caT	p.Q159H	AP1B1_uc003afl.3_Missense_Mutation_p.Q159H|AP1B1_uc003afi.3_Missense_Mutation_p.Q159H	NM_001127	NP_001118	Q10567	AP1B1_HUMAN	Homo sapiens adaptor-related protein complex 1, beta 1 subunit (AP1B1), transcript variant 1, mRNA.	159					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CCAGGAAGCCCTGGTCCTCCA	0.597													A	29754763	C	A	29754763	3	1	211	1	0	0	0	0	1	0	0	0	733	680	24	4	2448	4	AP1B1	22	29754763	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	6885979	29754763	21549803	105	14570											
CPT1B	1375	broad.mit.edu	37	chr22	51008725	51008725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaggagcactcacaggGccaaagccacctccagcgcc	10	4	9	18	1	2	0	2	0	0	0	3	1	3	1	6	2	3	1	6	2	1	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chr22:51008725G>A	uc003bmm.3	-	16	2238	c.2139C>T	c.(2137-2139)ggC>ggT	p.G713G	CPT1B_uc003bmk.4_Silent_p.G713G|CPT1B_uc003bml.3_Silent_p.G713G|CPT1B_uc003bmo.3_Silent_p.G713G|CPT1B_uc011asa.2_Silent_p.G679G|CPT1B_uc003bmn.3_Silent_p.G713G|CPT1B_uc011asb.2_Silent_p.G632G|CPT1B_uc003bmp.3_Silent_p.G508G|CPT1B_uc021wsc.1_Non-coding_Transcript|BC048192_uc003bmr.1_5'Flank	NM_004377	NP_689452	Q92523	CPT1B_HUMAN	Homo sapiens carnitine palmitoyltransferase 1B (muscle) (CPT1B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	713					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	p.G713G(2)|p.G713S(1)		central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CACTCACAGGGCCAAAGCCAC	0.652													A	51008725	G	A	51008725	2	1	211	1	0	0	0	0	0	0	0	1	3863	1190	42	2		2	CPT1B	22	51008725	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	21253962	51008725	295841	106	14571											
MAGEB1	4112	broad.mit.edu	37	chrX	30268850	30268850	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcatgtaccgaatctgaCgaaggtgccaaatgccaagg	12	8	12	9	2	2	1	1	1	1	0	2	3	2	1	3	2	3	1	3	2	5	1			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:30268850C>T	uc022buh.1	+	0	240	c.240C>T	c.(238-240)gaC>gaT	p.D80D	MAGEB1_uc004dcc.3_Silent_p.D80D|MAGEB1_uc004dcd.3_Silent_p.D80D|MAGEB1_uc004dce.3_Silent_p.D80D	NM_177415	NP_803134	P43366	MAGB1_HUMAN	Homo sapiens melanoma antigen family B, 1 (MAGEB1), transcript variant 3, mRNA.	80										NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						CCGAATCTGACGAAGGTGCCA	0.557													T	30268850	C	T	30268850	2	4	211	1	0	0	0	0	0	0	0	1	9247	535	19	1		1	MAGEB1	23	30268850	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08		30268850	125001710	107	14572											
ZNF157	7712	broad.mit.edu	37	chrX	47272323	47272323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgtgggaaaacatttcGtgtaaagatatcccttaccc	13	12	8	8	1	0	2	0	1	0	1	2	3	1	3	2	1	2	1	2	1	7	4			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:47272323G>A	uc004dhr.1	+	3	920	c.851G>A	c.(850-852)cGt>cAt	p.R284H		NM_003446	NP_003437	P51786	ZN157_HUMAN	Homo sapiens zinc finger protein 157 (ZNF157), mRNA.	284					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AAAACATTTCGTGTAAAGATA	0.443													A	47272323	G	A	47272323	3	1	211	1	0	0	0	0	1	0	0	0	17838	1145	40	1	865	1	ZNF157	23	47272323	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	17003473	47272323	107998237	108	14573											
SUV39H1	6839	broad.mit.edu	37	chrX	48564987	48564987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaccatccgggcaggCgaggagctcacctttgatta	12	7	11	11	2	1	2	1	1	0	1	2	4	2	3	3	3	2	2	3	3	3	2			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:48564987C>T	uc004dkn.3	+	4	1119	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	SUV39H1_uc011mmf.2_Silent_p.G369G|SUV39H1_uc011mmg.2_Non-coding_Transcript	NM_003173	NP_003164	O43463	SUV91_HUMAN	Homo sapiens suppressor of variegation 3-9 homolog 1 (Drosophila) (SUV39H1), mRNA.	358	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TCCGGGCAGGCGAGGAGCTCA	0.592													T	48564987	C	T	48564987	2	4	211	1	0	0	0	0	0	0	0	1	15508	755	27	1		1	SUV39H1	23	48564987	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	1292664	48564987	106705573	109	14574											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722205	64722205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgaatccatgggggacCatggctactattcaatgtta	11	13	10	7	0	1	1	1	1	0	0	2	2	2	2	2	3	1	3	2	3	5	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:64722205C>A	uc010nko.3	+	4	1694	c.1627C>A	c.(1627-1629)Cat>Aat	p.H543N		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	532							endonuclease activity|nucleic acid binding|zinc ion binding	p.H393N(1)|p.H479N(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CATGGGGGACCATGGCTACTA	0.478													A	64722205	C	A	64722205	3	1	211	1	0	0	0	0	1	0	0	0	17663	594	21	4	1645	4	ZC3H12B	23	64722205	Missense_Mutation	SNP	C	TCGA-28-5209-01A-01D-1486-08	16157218	64722205	90548355	110	14575											
GPR174	84636	broad.mit.edu	37	chrX	78427065	78427065	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccgttgttatgatgacCattggcgagttgattgggtt	7	15	13	6	2	0	3	0	3	0	0	1	4	1	3	2	2	0	4	2	2	1	6			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:78427065C>A	uc004edg.1	+	0	597	c.561C>A	c.(559-561)acC>acA	p.T187T		NM_032553	NP_115942	Q9BXC1	GP174_HUMAN	Homo sapiens G protein-coupled receptor 174 (GPR174), mRNA.	187						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.T187fs*3(2)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTATGATGACCATTGGCGAGT	0.458										HNSCC(63;0.18)			A	78427065	C	A	78427065	2	1	211	1	0	0	0	0	0	0	0	1	6726	581	21	4		4	GPR174	23	78427065	Silent	SNP	C	TCGA-28-5209-01A-01D-1486-08	13704860	78427065	76843495	111	14576											
BRWD3	254065	broad.mit.edu	37	chrX	79960260	79960260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgctgcatattttacGtgttgtctgtctggtttgtc	5	18	11	7	1	2	1	0	0	2	1	3	1	2	1	0	1	4	5	0	1	2	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:79960260G>A	uc004edt.3	-	22	2901	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C	BRWD3_uc010nmi.2_Non-coding_Transcript|BRWD3_uc004edp.3_Missense_Mutation_p.R709C|BRWD3_uc004edq.3_Missense_Mutation_p.R476C|BRWD3_uc010nmj.2_Missense_Mutation_p.R476C|BRWD3_uc004edr.3_Missense_Mutation_p.R550C|BRWD3_uc004eds.3_Missense_Mutation_p.R476C|BRWD3_uc004edo.3_Missense_Mutation_p.R476C|BRWD3_uc004edu.3_Missense_Mutation_p.R550C|BRWD3_uc004edv.3_Missense_Mutation_p.R476C|BRWD3_uc004edw.3_Missense_Mutation_p.R476C|BRWD3_uc004edx.3_Missense_Mutation_p.R476C|BRWD3_uc004edy.3_Missense_Mutation_p.R476C|BRWD3_uc004edz.3_Missense_Mutation_p.R550C|BRWD3_uc004eea.3_Missense_Mutation_p.R550C|BRWD3_uc004eeb.3_Missense_Mutation_p.R476C	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	880										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CATATTTTACGTGTTGTCTGT	0.368													A	79960260	G	A	79960260	3	1	211	1	0	0	0	0	1	0	0	0	1535	1145	40	1	2846	1	BRWD3	23	79960260	Missense_Mutation	SNP	G	TCGA-28-5209-01A-01D-1486-08	1533195	79960260	75310300	112	14577											
NRK	203447	broad.mit.edu	37	chrX	105156744	105156744	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaaatcctaaaaaaatTgaggtaaatttttcaatatg	18	15	4	4	0	2	1	2	1	0	0	3	1	3	1	1	1	0	1	1	1	9	7			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:105156744T>G	uc004emd.3	+	13	2649	c.2346T>G	c.(2344-2346)atT>atG	p.I782M	NRK_uc010npc.1_Missense_Mutation_p.I450M	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	782							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.I782fs*66(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						CTAAAAAAATTGAGGTAAATT	0.338										HNSCC(51;0.14)			G	105156744	T	G	105156744	3	3	211	1	0	0	0	0	1	0	0	0	10731	1800	63	5	2400	5	NRK	23	105156744	Missense_Mutation	SNP	T	TCGA-28-5209-01A-01D-1486-08	25196484	105156744	50113816	113	14578											
DOCK11	139818	broad.mit.edu	37	chrX	117748723	117748723	+	Frame_Shift_Del	DEL	C	C	-																															gactatatatctggattcagCcccaaagatcctaaggtaag																										TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:117748723delC	uc004eqp.2	+	28	3228	c.3165delC	c.(3163-3165)agcfs	p.S1055fs	DOCK11_uc004eqq.2_Frame_Shift_Del_p.S821fs	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1055					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTGGATTCAGCCCCAAAGATC	0.343													-	117748723	C	-	117748723	7	5	211	1	0	1	0	1	0	0	0	0	4725	738	26	0	3279	0	DOCK11	23	117748723	Frame_Shift_Del	DEL	C	TCGA-28-5209-01A-01D-1486-08	12591979	117748723	37521837	114	14579											
MTMR1	8776	broad.mit.edu	37	chrX	149898608	149898608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacttgcggcttgcttatAaacaggaagaacagagtaaa	16	8	11	6	1	0	2	0	0	0	2	0	4	0	4	0	3	5	3	0	3	8	5			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:149898608A>G	uc004feh.1	+	6	718	c.583A>G	c.(583-585)Aaa>Gaa	p.K195E	MTMR1_uc011mya.1_Missense_Mutation_p.K93E|MTMR1_uc004feg.1_Missense_Mutation_p.K187E|MTMR1_uc004fei.3_Missense_Mutation_p.K187E|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Non-coding_Transcript	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	187						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTTATAAACAGGAAGA	0.383													G	149898608	A	G	149898608	3	3	211	1	0	0	0	0	1	0	0	0	10014	363	13	3	581	3	MTMR1	23	149898608	Missense_Mutation	SNP	A	TCGA-28-5209-01A-01D-1486-08	32149885	149898608	5371952	115	14580											
PLXNB3	5365	broad.mit.edu	37	chrX	153032873	153032873	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggcgggcaagctgtcGgcaggggtgccacccctggc	4	5	18	14	2	0	0	0	0	0	0	1	0	0	0	4	7	2	3	4	7	1	0			TCGA-28-5209-01A-01D-1486-08	TCGA-28-5209-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef8b63f3-b820-46ac-a99c-3d401a6203d7	2b92596c-8041-40ce-846f-c7d11418faf9	g.chrX:153032873G>A	uc010nuk.2	+	3	931	c.660G>A	c.(658-660)tcG>tcA	p.S220S	PLXNB3_uc011mzb.1_Intron|PLXNB3_uc011mzc.2_Intron|PLXNB3_uc004fii.2_Silent_p.S197S|PLXNB3_uc011mzd.1_Intron	NM_001163257	NP_001156729	Q9ULL4	PLXB3_HUMAN	Homo sapiens plexin B3 (PLXNB3), transcript variant 2, mRNA.	197	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAAGCTGTCGGCAGGGGTGC	0.716													A	153032873	G	A	153032873	2	1	211	1	0	0	0	0	0	0	0	1	12202	1103	39	1		1	PLXNB3	23	153032873	Silent	SNP	G	TCGA-28-5209-01A-01D-1486-08	3134265	153032873	2237687	116	14581											
ABCA4	24	broad.mit.edu	37	chr1	94466600	94466600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccttctctgatgatgCtcacgatgacgttccacagc	7	11	7	16	2	2	3	1	3	1	0	5	4	4	3	3	0	2	2	3	0	0	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:94466600C>T	uc001dqh.3	-	45	6448	c.6344G>A	c.(6343-6345)aGc>aAc	p.S2115N		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	2115	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGATGATGCTCACGATGAC	0.632													T	94466600	C	T	94466600	3	4	212	1	0	0	0	0	1	0	0	0	34	797	28	2	497	2	ABCA4	1	94466600	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		94466600	154784021	1	14582											
PPM1J	333926	broad.mit.edu	37	chr1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgttgttggggagaCgccagccacggtctcggggg	5	8	17	11	3	1	1	0	0	1	1	2	2	1	1	3	5	2	3	3	5	0	3	rs113935705	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:113252867C>T	uc001ect.1	-	9	1463	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	RHOC_uc001ecq.1_5'Flank|RHOC_uc001ecr.1_5'Flank|RHOC_uc009wgk.1_5'Flank|PPM1J_uc009wgl.1_Intron|PPM1J_uc001ecs.1_Missense_Mutation_p.R273H	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	479	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622													T	113252867	C	T	113252867	3	4	212	1	0	0	0	0	1	0	0	0	12424	536	19	1	85	1	PPM1J	1	113252867	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	18786267	113252867	135997754	2	14583											
TCHH	7062	broad.mit.edu	37	chr1	152082812	152082812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagcttcttatccttccGatattgcctttcccgctcct	4	16	5	16	2	1	0	0	0	1	0	5	1	5	0	5	0	3	3	5	0	2	6			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152082812G>A	uc009wne.1	-	2	3153	c.2881C>T	c.(2881-2883)Cgg>Tgg	p.R961W	TCHH_uc001ezp.2_Missense_Mutation_p.R961W	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	961	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ttatccttcCGATATTGCCTT	0.562													A	152082812	G	A	152082812	3	1	212	1	0	0	0	0	1	0	0	0	15800	1057	37	1	2954	1	TCHH	1	152082812	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	38829945	152082812	97167809	3	14584											
FLG	2312	broad.mit.edu	37	chr1	152278705	152278705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcacactggatccctggCgcctgcttctcctggacccc	4	9	10	18	1	2	0	1	0	1	0	4	2	3	2	5	4	1	2	5	4	0	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:152278705C>T	uc001ezu.1	-	2	8693	c.8657G>A	c.(8656-8658)cGc>cAc	p.R2886H		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2886	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGATCCCTGGCGCCTGCTTCT	0.562									Ichthyosis				T	152278705	C	T	152278705	3	4	212	1	0	0	0	0	1	0	0	0	5971	768	27	1	3532	1	FLG	1	152278705	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	195893	152278705	96971916	4	14585											
USH2A	7399	broad.mit.edu	37	chr1	216595382	216595382	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggcctgctgagaaaagGgcagtgtaggtagggtgtga	10	8	18	5	0	0	3	0	3	0	1	0	4	0	3	1	4	1	4	1	4	4	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:216595382G>A	uc001hku.1	-	1	684	c.297C>T	c.(295-297)gcC>gcT	p.A99A	USH2A_uc001hkv.3_Silent_p.A99A	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	99					maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.A99V(2)		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)		CTGAGAAAAGGGCAGTGTAGG	0.453										HNSCC(13;0.011)			A	216595382	G	A	216595382	2	1	212	1	0	0	0	0	0	0	0	1	17138	1219	43	2		2	USH2A	1	216595382	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	64316677	216595382	32655239	5	14586											
OR2G2	81470	broad.mit.edu	37	chr1	247752222	247752222	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcgaggtccctgtgctCatcaagctggcttgtgtggg	5	12	14	10	1	3	0	2	0	1	0	4	1	4	0	1	3	3	3	1	3	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr1:247752222C>A	uc010pyy.2	+	0	561	c.561C>A	c.(559-561)ctC>ctA	p.L187L		NM_001001915	NP_001001915	Q8NGZ5	OR2G2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 2 (OR2G2), mRNA.	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TCCCTGTGCTCATCAAGCTGG	0.537													A	247752222	C	A	247752222	2	1	212	1	0	0	0	0	0	0	0	1	11074	813	29	4		4	OR2G2	1	247752222	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08	31156840	247752222	1498399	6	14587											
DYSF	8291	broad.mit.edu	37	chr2	71886153	71886153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcctgcagcccaaggaccCcaatggaaaggtaactttcc	11	7	10	13	0	0	0	0	0	0	0	1	2	1	2	5	4	3	2	5	4	4	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:71886153C>G	uc010fen.3	+	43	5042	c.4901C>G	c.(4900-4902)cCc>cGc	p.P1634R	DYSF_uc010fei.3_Missense_Mutation_p.P1612R|DYSF_uc010feh.3_Missense_Mutation_p.P1602R|DYSF_uc002sig.4_Missense_Mutation_p.P1581R|DYSF_uc010yqx.2_Non-coding_Transcript|DYSF_uc010feg.3_Missense_Mutation_p.P1626R|DYSF_uc010fee.3_Missense_Mutation_p.P1616R|DYSF_uc010fef.3_Missense_Mutation_p.P1633R|DYSF_uc002sie.3_Missense_Mutation_p.P1595R|DYSF_uc010feo.3_Missense_Mutation_p.P1627R|DYSF_uc010fej.3_Missense_Mutation_p.P1603R|DYSF_uc010fel.3_Missense_Mutation_p.P1582R|DYSF_uc010fem.3_Missense_Mutation_p.P1617R|DYSF_uc002sif.3_Missense_Mutation_p.P1596R|DYSF_uc010fek.3_Missense_Mutation_p.P1613R|DYSF_uc010yqy.2_Missense_Mutation_p.P476R|DYSF_uc010yqz.2_Missense_Mutation_p.P356R	NM_001130987	NP_001124459	O75923	DYSF_HUMAN	Homo sapiens dysferlin, limb girdle muscular dystrophy 2B (autosomal recessive) (DYSF), transcript variant 1, mRNA.	1595	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCAAGGACCCCAATGGAAAG	0.577													G	71886153	C	G	71886153	3	3	212	1	0	0	0	0	1	0	0	0	4898	623	22	4	5213	4	DYSF	2	71886153	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		71886153	171313220	7	14588											
FAM176A	84141	broad.mit.edu	37	chr2	75720533	75720533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcggcggtgtctccgcacGgagagatcggacacggtgtc	8	6	16	11	6	1	1	0	0	1	1	4	4	1	3	1	5	1	1	1	5	1	0			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:75720533G>A	uc002sni.2	-	3	766	c.288C>T	c.(286-288)tcC>tcT	p.S96S	FAM176A_uc002snj.1_Silent_p.S83S|FAM176A_uc002snk.1_Silent_p.S96S	NM_001135032	NP_115557	Q9H8M9	F176A_HUMAN	Homo sapiens family with sequence similarity 176, member A (FAM176A), transcript variant 1, mRNA.	96					apoptosis|autophagy	endoplasmic reticulum membrane|integral to membrane|lysosomal membrane|plasma membrane		p.S96F(1)		endometrium(1)|large_intestine(4)|lung(1)|skin(2)	8						GTCTCCGCACGGAGAGATCGG	0.647													A	75720533	G	A	75720533	2	1	212	1	0	0	0	0	0	0	0	1	5544	1103	39	1		1	FAM176A	2	75720533	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	3834380	75720533	167478840	8	14589											
NEB	4703	broad.mit.edu	37	chr2	152363440	152363440	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccgagctgaaattcttctGattttcttttacacgcagta	10	16	6	9	2	3	2	0	2	3	0	3	3	3	2	1	0	3	3	1	0	4	8			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:152363440G>T	uc021vrb.1	-	133	18465	c.18436C>A	c.(18436-18438)Cag>Aag	p.Q6146K	NEB_uc002txr.3_Missense_Mutation_p.Q2612K|NEB_uc002txu.3_Missense_Mutation_p.Q7847K|NEB_uc021vrc.1_Missense_Mutation_p.Q7847K|NEB_uc010fnx.3_Missense_Mutation_p.Q6134K|NEB_uc021vrd.1_Missense_Mutation_p.Q6146K|RIF1_uc002txp.3_Intron|NEB_uc010zca.2_5'Flank|NEB_uc010zcb.2_5'UTR|NEB_uc002txt.4_Missense_Mutation_p.Q651K	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	6146					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAATTCTTCTGATTTTCTTTT	0.318													T	152363440	G	T	152363440	3	4	212	1	0	0	0	0	1	0	0	0	10378	1299	45	4	2118	4	NEB	2	152363440	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	76642907	152363440	90835933	9	14590											
COL6A3	1293	broad.mit.edu	37	chr2	238275426	238275426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcggacagctcctggaCgttgcccacgcggaacgctg	7	7	13	14	5	0	0	0	0	0	0	2	3	1	3	2	3	3	4	2	3	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr2:238275426C>T	uc002vwl.2	-	10	5689	c.5404G>A	c.(5404-5406)Gtc>Atc	p.V1802I	COL6A3_uc002vwo.2_Missense_Mutation_p.V1596I|COL6A3_uc010znj.1_Missense_Mutation_p.V1195I	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	1802	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AGCTCCTGGACGTTGCCCACG	0.532													T	238275426	C	T	238275426	3	4	212	1	0	0	0	0	1	0	0	0	3732	536	19	1	4265	1	COL6A3	2	238275426	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	85911986	238275426	4923947	10	14591											
TRAIP	10293	broad.mit.edu	37	chr3	49869443	49869443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggtagcattgagatCaatatcatcacggaaggatg	16	9	10	6	1	4	1	4	1	0	1	4	4	4	3	0	3	1	2	0	3	5	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr3:49869443C>A	uc003cxs.1	-	10	1049	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	TRAIP_uc010hla.1_Missense_Mutation_p.D216Y	NM_005879	NP_005870	Q9BWF2	TRAIP_HUMAN	Homo sapiens TRAF interacting protein (TRAIP), mRNA.	315	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GCATTGAGATCAATATCATCA	0.542													A	49869443	C	A	49869443	3	1	212	1	0	0	0	0	1	0	0	0	16549	826	29	4	486	4	TRAIP	3	49869443	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		49869443	148152987	11	14592											
TLR6	10333	broad.mit.edu	37	chr4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaatgctttcaatgtcGttttagaataagtaaaatct	13	17	6	5	1	3	1	2	0	1	1	4	1	3	1	0	0	1	3	0	0	7	6			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:38830190G>A	uc010ifg.2	-	1	1026	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_uc003gtm.3_Missense_Mutation_p.T302M	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323													A	38830190	G	A	38830190	3	1	212	1	0	0	0	0	1	0	0	0	16055	1145	40	1	1489	1	TLR6	4	38830190	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		38830190	152324086	12	14593											
TNIP3	79931	broad.mit.edu	37	chr4	122085228	122085228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttacctctttatgctccGtagaactttctgcggcaatc	7	16	6	12	2	3	1	0	0	3	1	5	1	4	1	2	1	4	3	2	1	5	6	rs144762502	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr4:122085228G>A	uc021xrj.1	-	3	363	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TNIP3_uc010ing.3_Missense_Mutation_p.T18M|TNIP3_uc011cgj.2_Missense_Mutation_p.T88M|TNIP3_uc010ini.3_Missense_Mutation_p.T18M	NM_001244764	NP_001231693	Q96KP6	TNIP3_HUMAN	Homo sapiens TNFAIP3 interacting protein 3 (TNIP3), transcript variant 3, mRNA.	18								p.T18M(1)		NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						TTTATGCTCCGTAGAACTTTC	0.398													A	122085228	G	A	122085228	3	1	212	1	0	0	0	0	1	0	0	0	16416	1145	40	1	968	1	TNIP3	4	122085228	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	83255038	122085228	69069048	13	14594											
HCN1	348980	broad.mit.edu	37	chr5	45695952	45695952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggggcccctcggcgtcttCgaagccccccgccggctcct	2	6	12	21	6	1	0	0	0	1	0	4	1	2	0	8	4	1	1	8	4	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:45695952C>T	uc003jok.3	-	0	269	c.244G>A	c.(244-246)Gaa>Aaa	p.E82K		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	82						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.F81I(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGGCGTCTTCGAAGCCCCCC	0.711													T	45695952	C	T	45695952	3	4	212	1	0	0	0	0	1	0	0	0	7051	893	31	1	2460	1	HCN1	5	45695952	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		45695952	135219308	14	14595											
ZNF366	167465	broad.mit.edu	37	chr5	71757119	71757120	+	Missense_Mutation	DNP	CG	CG	AT																															ccctgctccttcgaagacccCggggaacccatctaggtctc																										TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr5:71757119_71757120CG>AT	uc003kce.1	-	1	390_391	c.204_205CG>AT	c.(202-207)cccggg>ccATgg	p.G69W		NM_152625	NP_689838	Q8N895	ZN366_HUMAN	Homo sapiens zinc finger protein 366 (ZNF366), mRNA.	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TCGAAGACCCCGGGGAACCCAT	0.584													AT	71757120	CG	AT	71757119	3	1	212	1	0	0	0	0	1	0	0	0	17971	652	23	4	2045	4	ZNF366	5	71757119	Missense_Mutation	DNP	CG	TCGA-28-5211-01C-11D-1845-08	26061167	71757119	109158141	15	14596											
E2F3	1871	broad.mit.edu	37	chr6	20402625	20402625	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgctgccgccgccccGggcgcgtacatccagatcct	4	5	12	20	7	0	1	0	0	0	1	2	1	2	1	8	1	2	2	8	1	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:20402625G>C	uc003nda.2	+	0	489	c.162G>C	c.(160-162)ccG>ccC	p.P54P	E2F3_uc003ncz.2_Silent_p.P54P|E2F3_uc021ymj.1_5'Flank	NM_001949	NP_001940	O00716	E2F3_HUMAN	Homo sapiens E2F transcription factor 3 (E2F3), transcript variant 1, mRNA.	54					G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			ccgccgccCCGGGCGCGTACA	0.731													C	20402625	G	C	20402625	2	2	212	1	0	0	0	0	0	0	0	1	4907	1103	39	4		4	E2F3	6	20402625	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08		20402625	150712442	16	14597											
LAMA2	3908	broad.mit.edu	37	chr6	129802525	129802525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatgagtccggcatcattCttttgggaagtggagggaca	11	10	14	6	1	2	2	1	1	1	1	3	5	3	5	1	4	0	1	1	4	2	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:129802525C>G	uc021zfb.1	+	54	7795	c.7690C>G	c.(7690-7692)Ctt>Gtt	p.L2564V	LAMA2_uc003qbn.3_Missense_Mutation_p.L2562V|LAMA2_uc003qbo.3_Missense_Mutation_p.L2558V|BC035400_uc003qbq.3_Non-coding_Transcript	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	2564	Laminin G-like 3.		L -> P (in MDC1A).		cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CGGCATCATTCTTTTGGGAAG	0.488													G	129802525	C	G	129802525	3	3	212	1	0	0	0	0	1	0	0	0	8665	913	32	4	7908	4	LAMA2	6	129802525	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	109399900	129802525	41312542	17	14598											
SYNE1	23345	broad.mit.edu	37	chr6	152861113	152861113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accttggccagatgagagttGatccattttgtgaaagttcg	10	13	11	7	1	0	4	0	3	0	2	2	5	1	4	3	1	0	2	3	1	1	5			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr6:152861113G>C	uc021zhb.1	-	1	334	c.111C>G	c.(109-111)atC>atG	p.I37M	SYNE1_uc003qot.4_Missense_Mutation_p.I37M|SYNE1_uc003qou.4_Missense_Mutation_p.I37M|SYNE1_uc010kjb.1_Missense_Mutation_p.I37M|SYNE1_uc003qpa.1_Missense_Mutation_p.I37M	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	37	Actin-binding.|CH 1.				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)		GATGAGAGTTGATCCATTTTG	0.338										HNSCC(10;0.0054)			C	152861113	G	C	152861113	3	2	212	1	0	0	0	0	1	0	0	0	15542	1280	45	4	26952	4	SYNE1	6	152861113	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	23058588	152861113	18253954	18	14599											
GRB10	2887	broad.mit.edu	37	chr7	50674041	50674041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttacttaccactggcGtcgagaacggggacagcaag	10	8	13	10	3	0	1	0	0	0	1	1	3	0	2	1	4	4	2	1	4	4	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr7:50674041G>A	uc003tpi.2	-	10	1311	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	GRB10_uc003tph.3_Missense_Mutation_p.T364M|GRB10_uc003tpj.2_Missense_Mutation_p.T376M|GRB10_uc003tpk.2_Missense_Mutation_p.T422M|GRB10_uc010kzb.2_Missense_Mutation_p.T364M|GRB10_uc003tpl.2_Missense_Mutation_p.T416M|GRB10_uc003tpm.2_Missense_Mutation_p.T364M	NM_005311	NP_005302	Q13322	GRB10_HUMAN	Homo sapiens growth factor receptor-bound protein 10 (GRB10), transcript variant 1, mRNA.	422					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity	p.T422M(2)|p.T416M(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					TACCACTGGCGTCGAGAACGG	0.517									Russell-Silver syndrome				A	50674041	G	A	50674041	3	1	212	1	0	0	0	0	1	0	0	0	6811	1145	40	1	543	1	GRB10	7	50674041	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		50674041	108464622	19	14600											
DLC1	10395	broad.mit.edu	37	chr8	12957581	12957581	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgtaacagggctgggCgtgctgaccgcgctgctggt	4	9	16	12	4	0	1	0	1	0	0	2	1	1	1	2	3	3	5	2	3	1	1	rs138749997	byFrequency	TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr8:12957581C>T	uc003wwm.2	-	8	2709	c.2265G>A	c.(2263-2265)acG>acA	p.T755T	DLC1_uc003wwk.1_Silent_p.T318T|DLC1_uc003wwl.1_Silent_p.T352T|DLC1_uc011kxx.1_Silent_p.T244T	NM_182643	NP_872584	Q96QB1	RHG07_HUMAN	Homo sapiens deleted in liver cancer 1 (DLC1), transcript variant 1, mRNA.	755					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CAGGGCTGGGCGTGCTGACCG	0.582													T	12957581	C	T	12957581	2	4	212	1	0	0	0	0	0	0	0	1	4589	755	27	1		1	DLC1	8	12957581	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08		12957581	133406441	20	14601											
SEMA4D	10507	broad.mit.edu	37	chr9	92003832	92003832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacaggcaccttcaggcccGgggacctgagcacgaagaca	12	3	12	14	2	1	2	1	1	0	1	1	4	1	3	3	4	1	2	3	4	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:92003832G>T	uc004aqo.1	-	11	1477	c.905C>A	c.(904-906)cCg>cAg	p.P302Q	SEMA4D_uc011ltm.1_Missense_Mutation_p.P302Q|SEMA4D_uc011ltn.1_Non-coding_Transcript|SEMA4D_uc011lto.1_Non-coding_Transcript|SEMA4D_uc004aqp.1_Missense_Mutation_p.P302Q	NM_006378	NP_006369	Q92854	SEM4D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D (SEMA4D), transcript variant 1, mRNA.	302	Sema.				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						CTTCAGGCCCGGGGACCTGAG	0.602													T	92003832	G	T	92003832	3	4	212	1	0	0	0	0	1	0	0	0	14127	1116	39	4	2281	4	SEMA4D	9	92003832	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		92003832	49209599	21	14602											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130670779	130670779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcgcttcggggcgcctgCtcgtgtgccaggtacatctg	3	10	16	12	4	1	0	0	0	1	0	3	0	1	0	2	4	3	3	2	4	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:130670779C>T	uc004bss.3	-	5	1077	c.801G>A	c.(799-801)gaG>gaA	p.E267E	ST6GALNAC4_uc004bst.3_Silent_p.E183E	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	267					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGGGCGCCTGCTCGTGTGCCA	0.627													T	130670779	C	T	130670779	2	4	212	1	0	0	0	0	0	0	0	1	15322	796	28	2		2	ST6GALNAC4	9	130670779	Silent	SNP	C	TCGA-28-5211-01C-11D-1845-08	38666947	130670779	10542652	22	14603											
PKN3	29941	broad.mit.edu	37	chr9	131476566	131476566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccccctgcagctcccCgagcacaatcagccccccta	7	5	7	22	1	1	0	1	0	0	0	2	1	2	0	8	0	5	4	8	0	2	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr9:131476566C>T	uc004bvw.3	+	10	1796	c.1403C>T	c.(1402-1404)cCg>cTg	p.P468L	PKN3_uc010myh.3_Missense_Mutation_p.P468L|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	468	Pro-rich.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						TGCAGCTCCCCGAGCACAATC	0.652													T	131476566	C	T	131476566	3	4	212	1	0	0	0	0	1	0	0	0	12058	652	23	1	1445	1	PKN3	9	131476566	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	805787	131476566	9736865	23	14604											
WDR11	55717	broad.mit.edu	37	chr10	122622305	122622305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatccaagcctccctcAggccctgggaaaaaagttta	11	8	7	15	0	1	0	1	0	0	0	4	1	4	1	6	2	1	1	6	2	5	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr10:122622305A>G	uc021pzt.1	+	4	831	c.585A>G	c.(583-585)tcA>tcG	p.S195S	WDR11_uc010qte.2_Intron|WDR11_uc001lfd.1_5'UTR	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	195						integral to membrane		p.S195L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						AGCCTCCCTCAGGCCCTGGGA	0.443													G	122622305	A	G	122622305	2	3	212	1	0	0	0	0	0	0	0	1	17375	175	7	3		3	WDR11	10	122622305	Silent	SNP	A	TCGA-28-5211-01C-11D-1845-08		122622305	12912442	24	14605											
CDON	50937	broad.mit.edu	37	chr11	125853903	125853903	+	Frame_Shift_Del	DEL	C	C	-																															ctggcagggctggttgcaggCcccacatttcctccacttcc																								rs139149075		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr11:125853903delC	uc009zbw.3	-	15	2987	c.2859delG	c.(2857-2859)gggfs	p.G953fs	CDON_uc001qdb.4_Frame_Shift_Del_p.G330fs|CDON_uc001qdc.4_Frame_Shift_Del_p.G953fs	NM_001243597	NP_001230526	Q4KMG0	CDON_HUMAN	Homo sapiens Cdon homolog (mouse) (CDON), transcript variant 1, mRNA.	953					cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGGTTGCAGGCCCCACATTTC	0.463													-	125853903	C	-	125853903	7	5	212	1	0	1	0	1	0	0	0	0	3200	726	26	0	955	0	CDON	11	125853903	Frame_Shift_Del	DEL	C	TCGA-28-5211-01C-11D-1845-08		125853903	9152613	25	14606											
LRP1	4035	broad.mit.edu	37	chr12	57603612	57603612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcctgagccacgccTctgacgtggtcctttaccat	6	9	12	14	2	1	2	0	2	1	0	2	2	2	2	5	3	2	0	5	3	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:57603612T>C	uc001snd.3	+	79	12866	c.12400T>C	c.(12400-12402)Tct>Cct	p.S4134P		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	4134					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GAGCCACGCCTCTGACGTGGT	0.572													C	57603612	T	C	57603612	3	2	212	1	0	0	0	0	1	0	0	0	9021	1551	54	3	12718	3	LRP1	12	57603612	Missense_Mutation	SNP	T	TCGA-28-5211-01C-11D-1845-08		57603612	76248283	26	14607											
LUM	4060	broad.mit.edu	37	chr12	91498030	91498030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcgattgccatccaaaCgcaaatgcttgatcttggag	12	10	10	9	2	1	2	0	1	1	1	2	4	2	3	2	1	4	2	2	1	2	3			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr12:91498030C>T	uc001tbm.3	-	2	1318	c.929G>A	c.(928-930)cGt>cAt	p.R310H		NM_002345	NP_002336	P51884	LUM_HUMAN	Homo sapiens lumican (LUM), mRNA.	310					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent	p.R310L(4)		central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						GCCATCCAAACGCAAATGCTT	0.373													T	91498030	C	T	91498030	3	4	212	1	0	0	0	0	1	0	0	0	9155	536	19	1	91	1	LUM	12	91498030	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	33894418	91498030	42353865	27	14608											
SYNE2	23224	broad.mit.edu	37	chr14	64497733	64497733	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatcttttctccactcgtaGgaactagagaatagactcag	13	11	7	10	1	3	2	1	0	2	2	5	4	3	3	1	1	1	1	1	1	6	5			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr14:64497733G>A	uc001xgl.3	+	45	7110	c.6880_splice	c.e45-1	p.E2294_splice	SYNE2_uc001xgm.3_Splice_Site_p.E2294_splice|SYNE2_uc021ruh.1_Splice_Site_p.E2294_splice	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	2294					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCACTCGTAGGAACTAGAGA	0.353													A	64497733	G	A	64497733	5	1	212	1	0	0	0	0	0	0	1	0	15543	1014	35	2	7053	2	SYNE2	14	64497733	Splice_Site	SNP	G	TCGA-28-5211-01C-11D-1845-08		64497733	42851807	28	14609											
GJD2	57369	broad.mit.edu	37	chr15	35045227	35045227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcaacttcttatcttctcGtttgcccccaccactgcccc	5	14	4	18	1	3	0	0	0	3	0	4	0	3	0	5	0	4	2	5	0	2	5			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:35045227G>A	uc001zis.1	-	1	418	c.418C>T	c.(418-420)Cga>Tga	p.R140*	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	140					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		TTATCTTCTCGTTTGCCCCCA	0.532													A	35045227	G	A	35045227	4	1	212	1	0	0	0	0	0	1	0	0	6473	1153	40	1	551	1	GJD2	15	35045227	Nonsense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		35045227	67486165	29	14610											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651232	84651232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgggagaaggatggccGttgcctgcagaactccaaac	11	6	13	11	1	0	2	0	0	0	2	1	4	1	3	4	3	4	2	4	3	3	1	rs147113160		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:84651232G>A	uc002bjz.4	+	20	3076	c.2852G>A	c.(2851-2853)cGt>cAt	p.R951H	ADAMTSL3_uc010bmt.1_Missense_Mutation_p.R951H	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	951	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGATGGCCGTTGCCTGCAG	0.532													A	84651232	G	A	84651232	3	1	212	1	0	0	0	0	1	0	0	0	276	1145	40	1	2930	1	ADAMTSL3	15	84651232	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	49606005	84651232	17880160	30	14611											
MCTP2	55784	broad.mit.edu	37	chr15	94943189	94943189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttactccccgggaaaagCgctttgttgaagacagccgc	9	10	10	12	3	0	2	0	1	0	1	1	3	1	3	3	1	3	2	3	1	4	4			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr15:94943189C>T	uc002btj.3	+	14	1995	c.1930C>T	c.(1930-1932)Cgc>Tgc	p.R644C	MCTP2_uc010boj.3_Missense_Mutation_p.R373C|MCTP2_uc010bok.3_Missense_Mutation_p.R644C|MCTP2_uc002btk.4_Missense_Mutation_p.R232C|MCTP2_uc002btl.3_Missense_Mutation_p.R232C	NM_018349	NP_060819	Q6DN12	MCTP2_HUMAN	Homo sapiens multiple C2 domains, transmembrane 2 (MCTP2), transcript variant 1, mRNA.	644					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CCGGGAAAAGCGCTTTGTTGA	0.458													T	94943189	C	T	94943189	3	4	212	1	0	0	0	0	1	0	0	0	9476	768	27	1	1988	1	MCTP2	15	94943189	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08	10291957	94943189	7588203	31	14612											
ABCC6	368	broad.mit.edu	37	chr16	16272807	16272807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgctgcttctggcctcCggagagattcatgccctgtg	5	10	12	14	2	2	1	1	0	1	1	3	3	3	2	4	2	3	2	4	2	0	2	rs72653787		TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:16272807C>T	uc002den.4	-	17	2300	c.2263G>A	c.(2263-2265)Gga>Aga	p.G755R	ABCC6_uc010bvo.3_Non-coding_Transcript	NM_001171	NP_001162	O95255	MRP6_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 6 (ABCC6), transcript variant 1, mRNA.	755	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		TTCTGGCCTCCGGAGAGATTC	0.627													T	16272807	C	T	16272807	3	4	212	1	0	0	0	0	1	0	0	0	57	661	23	1	2304	1	ABCC6	16	16272807	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		16272807	74081946	32	14613											
C16orf93	90835	broad.mit.edu	37	chr16	30770347	30770347	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcacttggctctggctctGgtggggccactgtctctagt	3	13	12	13	0	4	0	1	0	3	0	5	0	4	0	2	5	0	2	2	5	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr16:30770347G>C	uc002dzm.3	-	7	1299	c.803C>G	c.(802-804)cCa>cGa	p.P268R	PHKG2_uc021tgo.1_Intron|PHKG2_uc002dzk.2_3'UTR|C16orf93_uc002dzo.3_Missense_Mutation_p.P231R|C16orf93_uc021tgp.1_Silent_p.T154T|RNF40_uc010caa.3_5'Flank|RNF40_uc002dzq.3_5'Flank|RNF40_uc010cab.3_5'Flank|RNF40_uc010vfa.2_5'Flank	NM_001014979	NP_001014979	A1A4V9	CP093_HUMAN	Homo sapiens chromosome 16 open reading frame 93 (C16orf93), transcript variant 1, mRNA.	268										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						CTCTGGCTCTGGTGGGGCCAC	0.537													C	30770347	G	C	30770347	3	2	212	1	0	0	0	0	1	0	0	0	1860	1348	47	4	200	4	C16orf93	16	30770347	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	14497540	30770347	59584406	33	14614											
MYH10	4628	broad.mit.edu	37	chr17	8390908	8390908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctccgcctcgagctccCgcacctaatggacaacatcg	9	6	8	18	4	0	0	0	0	0	0	4	2	2	1	5	1	3	3	5	1	2	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:8390908C>A	uc002glm.3	-	35	4985	c.4889G>T	c.(4888-4890)cGg>cTg	p.R1630L	MYH10_uc002gll.3_Missense_Mutation_p.R1599L|MYH10_uc010cnx.3_Missense_Mutation_p.R1608L	NM_005964	NP_005955	P35580	MYH10_HUMAN	Homo sapiens myosin, heavy chain 10, non-muscle (MYH10), transcript variant 2, mRNA.	1599					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity	p.E1630K(1)		breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CTCGAGCTCCCGCACCTAATG	0.542													A	8390908	C	A	8390908	3	1	212	1	0	0	0	0	1	0	0	0	10106	652	23	4	1166	4	MYH10	17	8390908	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		8390908	72804302	34	14615											
GLP2R	9340	broad.mit.edu	37	chr17	9792806	9792806	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcccaagaagctctcGgaaggagatggcgctgagaa	14	6	13	8	2	1	3	0	1	1	3	3	6	2	4	1	3	1	2	1	3	5	0			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:9792806G>A	uc002gmd.1	+	12	1446	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	482					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane		p.L481L(1)		endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	AGAAGCTCTCGGAAGGAGATG	0.597													A	9792806	G	A	9792806	2	1	212	1	0	0	0	0	0	0	0	1	6509	1103	39	1		1	GLP2R	17	9792806	Silent	SNP	G	TCGA-28-5211-01C-11D-1845-08	1401898	9792806	71402404	35	14616											
KRT35	3886	broad.mit.edu	37	chr17	39633981	39633981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgccagggtggattccaAagcatctctctgtgagggca	8	10	12	11	0	3	1	0	1	3	0	5	2	4	2	2	3	2	2	2	3	1	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:39633981A>G	uc002hws.3	-	5	1052	c.1009T>C	c.(1009-1011)Ttg>Ctg	p.L337L		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	337	Coil 2.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GTGGATTCCAAAGCATCTCTC	0.577													G	39633981	A	G	39633981	2	3	212	1	0	0	0	0	0	0	0	1	8530	11	1	3		3	KRT35	17	39633981	Silent	SNP	A	TCGA-28-5211-01C-11D-1845-08	29841175	39633981	41561229	36	14617											
ENGASE	64772	broad.mit.edu	37	chr17	77073856	77073856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttaatgtggccctggAgcccctggcgtgtcgccagc	4	10	14	13	2	0	0	0	0	0	0	1	1	0	1	4	4	2	1	4	4	1	2			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr17:77073856A>G	uc002jwv.3	+	2	334	c.326A>G	c.(325-327)gAg>gGg	p.E109G	ENGASE_uc002jwu.1_Missense_Mutation_p.E109G|ENGASE_uc010wtz.1_5'UTR|ENGASE_uc002jww.3_5'Flank	NM_001042573	NP_001036038	Q8NFI3	ENASE_HUMAN	Homo sapiens endo-beta-N-acetylglucosaminidase (ENGASE), mRNA.	109						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GTGGCCCTGGAGCCCCTGGCG	0.592													G	77073856	A	G	77073856	3	3	212	1	0	0	0	0	1	0	0	0	5159	304	11	3	336	3	ENGASE	17	77073856	Missense_Mutation	SNP	A	TCGA-28-5211-01C-11D-1845-08	37439875	77073856	4121354	37	14618											
SLC1A6	6511	broad.mit.edu	37	chr19	15067457	15067457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctgaccccccaggaCggccatgtcttccatctcca	7	7	8	19	1	2	1	0	1	2	0	4	2	3	2	7	2	1	1	7	2	0	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:15067457C>T	uc002naa.1	-	5	1007	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.V270I	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	334					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V334I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCCCCAGGACGGCCATGTCT	0.582													T	15067457	C	T	15067457	3	4	212	1	0	0	0	0	1	0	0	0	14530	536	19	1	710	1	SLC1A6	19	15067457	Missense_Mutation	SNP	C	TCGA-28-5211-01C-11D-1845-08		15067457	44061526	38	14619											
PTPRH	5794	broad.mit.edu	37	chr19	55698964	55698964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggctgtggcccaccaggGagagttgctggggatgcagg	7	7	18	9	0	0	1	0	0	0	1	0	3	0	2	2	6	2	4	2	6	0	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chr19:55698964G>A	uc002qjq.3	-	13	2556	c.2483C>T	c.(2482-2484)tCc>tTc	p.S828F	PTPRH_uc010esv.3_Missense_Mutation_p.S650F|BC034929_uc002qjr.3_5'Flank	NM_002842	NP_002833	Q9HD43	PTPRH_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, H (PTPRH), transcript variant 1, mRNA.	828	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GCCCACCAGGGAGAGTTGCTG	0.587													A	55698964	G	A	55698964	3	1	212	1	0	0	0	0	1	0	0	0	12891	1174	41	2	892	2	PTPRH	19	55698964	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	40631507	55698964	3430019	39	14620											
ARHGAP6	395	broad.mit.edu	37	chrX	11682473	11682473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccattggggcctcccccgGatgaacagaggatgctggaa	9	7	14	11	1	0	2	0	1	0	1	1	5	1	5	4	5	3	1	4	5	2	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:11682473G>A	uc004cup.1	-	0	1349	c.476C>T	c.(475-477)tCc>tTc	p.S159F	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.S159F	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	159					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						GCCTCCCCCGGATGAACAGAG	0.657													A	11682473	G	A	11682473	3	1	212	1	0	0	0	0	1	0	0	0	890	1174	41	2	2622	2	ARHGAP6	23	11682473	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08		11682473	143588087	40	14621											
MAGEC2	51438	broad.mit.edu	37	chrX	141291609	141291609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagaagaggatgtggaGaaagaagagggggaaaatac	19	4	16	2	0	1	5	1	0	0	5	1	9	1	7	0	4	1	0	0	4	6	1			TCGA-28-5211-01C-11D-1845-08	TCGA-28-5211-10B-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f8dc846b-1b17-4699-9dc5-3f79e21eee94	fb345933-459e-4ab9-b876-7b07b709d6fe	g.chrX:141291609G>T	uc022cfj.1	-	0	165	c.165C>A	c.(163-165)ttC>ttA	p.F55L	MAGEC2_uc004fbu.2_Missense_Mutation_p.F55L	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	55	Ser-rich.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGTGGAGAAAGAAGAGG	0.512										HNSCC(46;0.14)			T	141291609	G	T	141291609	3	4	212	1	0	0	0	0	1	0	0	0	9256	933	33	4	960	4	MAGEC2	23	141291609	Missense_Mutation	SNP	G	TCGA-28-5211-01C-11D-1845-08	129609136	141291609	13978951	41	14622											
TAS1R1	80835	broad.mit.edu	37	chr1	6634905	6634905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactggtcaggggatctGcattgctttcaaggacatca	9	10	12	10	0	4	0	3	0	1	0	4	2	4	2	1	5	2	2	1	5	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:6634905G>A	uc001ant.3	+	2	809	c.713G>A	c.(712-714)tGc>tAc	p.C238Y	TAS1R1_uc001anu.3_Intron|TAS1R1_uc021ofp.1_Missense_Mutation_p.C160Y	NM_138697	NP_619642	Q7RTX1	TS1R1_HUMAN	Homo sapiens taste receptor, type 1, member 1 (TAS1R1), transcript variant 2, mRNA.	238					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGGATCTGCATTGCTTTC	0.622													A	6634905	G	A	6634905	3	1	213	1	0	0	0	0	1	0	0	0	15659	1319	46	2	723	2	TAS1R1	1	6634905	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		6634905	242615716	1	14623											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808936	18808936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctgatcctgcagcgccgGctccggggccgccagtacct	5	6	14	16	4	0	1	0	1	0	0	2	2	2	1	6	3	4	4	6	3	1	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:18808936G>A	uc001bax.3	+	0	1513	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	KLHDC7A_uc009vpg.3_Silent_p.R269R	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	487						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		TGCAGCGCCGGCTCCGGGGCC	0.662													A	18808936	G	A	18808936	2	1	213	1	0	0	0	0	0	0	0	1	8418	1190	42	2		2	KLHDC7A	1	18808936	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	12174031	18808936	230441685	2	14624											
RSPO1	284654	broad.mit.edu	37	chr1	38079485	38079485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgcgtgtccgctcctcGgagcccctccggaaaccaca	7	6	9	19	4	0	0	0	0	0	0	4	2	3	2	7	2	3	1	7	2	1	0			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:38079485G>A	uc001cbl.2	-	6	1408	c.516C>T	c.(514-516)tcC>tcT	p.S172S	RSPO1_uc009vvf.2_Silent_p.S145S|RSPO1_uc001cbm.2_Silent_p.S172S|RSPO1_uc009vvg.2_Intron	NM_001038633	NP_001229837	Q2MKA7	RSPO1_HUMAN	Homo sapiens R-spondin 1 (RSPO1), transcript variant 1, mRNA.	172	TSP type-1.				positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCGCTCCTCGGAGCCCCTCC	0.632													A	38079485	G	A	38079485	2	1	213	1	0	0	0	0	0	0	0	1	13800	1103	39	1		1	RSPO1	1	38079485	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	19270549	38079485	211171136	3	14625											
MACF1	23499	broad.mit.edu	37	chr1	39799225	39799225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgtgccaagtcacactgCcgtgaagcttatggagaagc	11	9	11	10	1	1	2	1	1	0	1	1	3	1	2	2	1	4	1	2	1	4	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:39799225C>T	uc021olw.1	+	0	2285	c.2285C>T	c.(2284-2286)gCc>gTc	p.A762V	MACF1_uc021ols.1_Intron|MACF1_uc001cdc.2_Intron|MACF1_uc021olt.1_Intron|MACF1_uc001cda.1_Intron|MACF1_uc001cdb.1_Intron	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	2327					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTCACACTGCCGTGAAGCTT	0.423													T	39799225	C	T	39799225	3	4	213	1	0	0	0	0	1	0	0	0	9215	739	26	2	7056	2	MACF1	1	39799225	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	1719740	39799225	209451396	4	14626											
C1orf177	163747	broad.mit.edu	37	chr1	55273665	55273665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcagctctggggaggttcGcttccgaggactcactgggg	5	9	16	11	2	3	0	2	0	1	0	5	3	4	2	1	6	1	4	1	6	0	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:55273665G>A	uc001cyb.4	+	3	515	c.461G>A	c.(460-462)cGc>cAc	p.R154H	C1orf177_uc001cya.4_Missense_Mutation_p.R154H	NM_001110533	NP_001104003	Q3ZCV2	CA177_HUMAN	Homo sapiens chromosome 1 open reading frame 177 (C1orf177), transcript variant 2, mRNA.	154										breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(6)|prostate(2)	17						GGGGAGGTTCGCTTCCGAGGA	0.552													A	55273665	G	A	55273665	3	1	213	1	0	0	0	0	1	0	0	0	2037	1087	38	1	475	1	C1orf177	1	55273665	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	15474440	55273665	193976956	5	14627											
INADL	10207	broad.mit.edu	37	chr1	62253476	62253476	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagattggtggcacaaaCgtgcagggaatgaccagtga	13	8	14	6	1	0	4	0	3	0	1	0	5	0	5	1	3	2	2	1	3	3	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:62253476C>T	uc001dab.3	+	7	1014	c.900C>T	c.(898-900)aaC>aaT	p.N300N	INADL_uc009waf.1_Silent_p.N300N|INADL_uc001daa.2_Silent_p.N300N|INADL_uc001dad.3_5'UTR	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	300	PDZ 2.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGGCACAAACGTGCAGGGAA	0.438													T	62253476	C	T	62253476	2	4	213	1	0	0	0	0	0	0	0	1	7789	535	19	1		1	INADL	1	62253476	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	6979811	62253476	186997145	6	14628											
TRIM45	80263	broad.mit.edu	37	chr1	117663350	117663350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacctatgagcctggcaGcagaagtggcagaggttggc	9	9	14	9	0	0	3	0	1	0	2	0	3	0	3	2	4	3	4	2	4	3	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:117663350G>A	uc001egz.2	-	0	1062	c.474C>T	c.(472-474)tgC>tgT	p.C158C	TRIM45_uc009whe.2_Silent_p.C158C	NM_025188	NP_079464	Q9H8W5	TRI45_HUMAN	Homo sapiens tripartite motif containing 45 (TRIM45), transcript variant 1, mRNA.	158						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		GAGCCTGGCAGCAGAAGTGGC	0.527													A	117663350	G	A	117663350	2	1	213	1	0	0	0	0	0	0	0	1	16621	963	34	2		2	TRIM45	1	117663350	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	55409874	117663350	131587271	7	14629											
TCHH	7062	broad.mit.edu	37	chr1	152083970	152083970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttcagcagctgatcgcGcctctcctcctgctcgcgct	3	10	10	18	5	2	1	1	1	1	0	6	1	3	1	3	0	3	5	3	0	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:152083970G>A	uc009wne.1	-	2	1995	c.1723C>T	c.(1723-1725)Cgc>Tgc	p.R575C	TCHH_uc001ezp.2_Missense_Mutation_p.R575C	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	575	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGATCGCGCCTCTCCTCC	0.677													A	152083970	G	A	152083970	3	1	213	1	0	0	0	0	1	0	0	0	15800	1087	38	1	4112	1	TCHH	1	152083970	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	34420620	152083970	97166651	8	14630											
SPTA1	6708	broad.mit.edu	37	chr1	158606471	158606471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagctccccctctaggCgtttgtgcttcttcagcaag	6	11	8	16	1	3	0	1	0	2	0	4	0	4	0	4	1	3	4	4	1	2	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158606471C>T	uc001fst.1	-	36	5469	c.5270G>A	c.(5269-5271)cGc>cAc	p.R1757H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1757					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R1757C(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCCCTCTAGGCGTTTGTGCTT	0.473													T	158606471	C	T	158606471	3	4	213	1	0	0	0	0	1	0	0	0	15212	768	27	1	2053	1	SPTA1	1	158606471	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	6522501	158606471	90644150	9	14631											
PYHIN1	149628	broad.mit.edu	37	chr1	158906881	158906881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttcccaggtgatgccGgtttgggcaaactaatagaa	14	9	11	7	1	0	2	0	1	0	1	1	2	1	2	2	3	2	3	2	3	6	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:158906881G>A	uc001ftb.3	+	1	431	c.181G>A	c.(181-183)Ggt>Agt	p.G61S	PYHIN1_uc001fta.4_Missense_Mutation_p.G61S|PYHIN1_uc001ftc.3_Missense_Mutation_p.G61S|PYHIN1_uc001ftd.3_Missense_Mutation_p.G61S|PYHIN1_uc001fte.3_Missense_Mutation_p.G61S	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	61	DAPIN.				cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					AGGTGATGCCGGTTTGGGCAA	0.368													A	158906881	G	A	158906881	3	1	213	1	0	0	0	0	1	0	0	0	12953	1116	39	1	183	1	PYHIN1	1	158906881	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	300410	158906881	90343740	10	14632											
IGFN1	91156	broad.mit.edu	37	chr1	201195009	201195009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtgcctgggacggtgaCggccgagtgggaaccctctc	7	6	16	12	4	1	1	0	1	1	0	2	5	1	3	3	4	3	0	3	4	2	0	rs145852390		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:201195009C>T	uc001gwc.3	+	21	10674	c.10544C>T	c.(10543-10545)aCg>aTg	p.T3515M	IGFN1_uc001gwb.3_Non-coding_Transcript	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGGACGGTGACGGCCGAGTGG	0.687													T	201195009	C	T	201195009	3	4	213	1	0	0	0	0	1	0	0	0	7648	536	19	1	10626	1	IGFN1	1	201195009	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	42288128	201195009	48055612	11	14633											
OR2T33	391195	broad.mit.edu	37	chr1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttatgtttacacacGtccccagccaccgtttcagg	7	13	9	12	2	1	0	1	0	0	0	2	0	2	0	4	2	2	3	4	2	2	5			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr1:248436203G>A	uc010pzi.2	-	0	914	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTTACACACGTCCCCAGCCA	0.423													A	248436203	G	A	248436203	3	1	213	1	0	0	0	0	1	0	0	0	11100	1145	40	1	51	1	OR2T33	1	248436203	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	47241194	248436203	814418	12	14634											
CCDC85A	114800	broad.mit.edu	37	chr2	56603032	56603032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttcagtggacatgccacaCcttcccagcagcctgaacct	9	8	8	16	0	1	1	1	1	0	0	2	2	2	2	5	1	4	2	5	1	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:56603032C>T	uc002rzn.3	+	4	2036	c.1534C>T	c.(1534-1536)Cct>Tct	p.P512S	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	512								p.P512A(2)		breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ACATGCCACACCTTCCCAGCA	0.473													T	56603032	C	T	56603032	3	4	213	1	0	0	0	0	1	0	0	0	2887	507	18	2	1552	2	CCDC85A	2	56603032	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		56603032	186596341	13	14635											
POLR1B	84172	broad.mit.edu	37	chr2	113315616	113315616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatagaccttacaaaaccaTttgaatacctttttgctact	13	14	4	10	0	0	2	0	1	0	1	0	2	0	2	3	0	5	2	3	0	7	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:113315616T>C	uc002thw.2	+	7	1868	c.1288T>C	c.(1288-1290)Ttt>Ctt	p.F430L	POLR1B_uc010fkn.2_Missense_Mutation_p.F374L|POLR1B_uc002thx.2_Missense_Mutation_p.F291L|POLR1B_uc010fko.2_Intron|POLR1B_uc010fkp.2_Intron|POLR1B_uc002thy.2_Missense_Mutation_p.F291L|POLR1B_uc010yxo.1_Missense_Mutation_p.F207L	NM_019014	NP_061887	Q9H9Y6	RPA2_HUMAN	Homo sapiens polymerase (RNA) I polypeptide B, 128kDa (POLR1B), transcript variant 1, mRNA.	430					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TACAAAACCATTTGAATACCT	0.328													C	113315616	T	C	113315616	3	2	213	1	0	0	0	0	1	0	0	0	12287	1493	52	3	1318	3	POLR1B	2	113315616	Missense_Mutation	SNP	T	TCGA-28-5213-01A-01D-1486-08	56712584	113315616	129883757	14	14636											
TTN	7273	broad.mit.edu	37	chr2	179410767	179410767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcctccgtcttcctgCggaaggctccaggctaaagt	6	11	10	14	2	2	0	0	0	2	0	6	1	6	1	4	3	2	3	4	3	3	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:179410767C>T	uc021vsy.1	-	291	87717	c.87492G>A	c.(87490-87492)ccG>ccA	p.P29164P	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.P22859P|TTN_uc021vta.1_Silent_p.P22792P|TTN_uc021vtb.1_Silent_p.P22667P	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	30091	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTCTTCCTGCGGAAGGCTCC	0.527													T	179410767	C	T	179410767	2	4	213	1	0	0	0	0	0	0	0	1	16837	755	27	1		1	TTN	2	179410767	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	66095151	179410767	63788606	15	14637											
CRYGC	1420	broad.mit.edu	37	chr2	208993026	208993026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggggcctcagcaggtattgCcgcccccggtagttgggcag	5	8	16	12	2	1	0	1	0	0	0	1	0	1	0	4	5	2	5	4	5	2	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:208993026C>T	uc002vco.4	-	2	464	c.426G>A	c.(424-426)cgG>cgA	p.R142R	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Intron	NM_020989	NP_066269	P07315	CRGC_HUMAN	Homo sapiens crystallin, gamma C (CRYGC), mRNA.	142	Beta/gamma crystallin 'Greek key' 4.				visual perception	cytoplasm|nucleus	protein binding|structural constituent of eye lens			NS(1)|endometrium(1)|large_intestine(2)|lung(5)	9				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		GCAGGTATTGCCGCCCCCGGT	0.622													T	208993026	C	T	208993026	2	4	213	1	0	0	0	0	0	0	0	1	3947	726	26	2		2	CRYGC	2	208993026	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	29582259	208993026	34206347	16	14638											
PNKD	25953	broad.mit.edu	37	chr2	219206751	219206751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggacggcttcagatccGggccctggctacacctggcc	5	7	14	15	3	1	1	1	0	0	1	2	2	2	2	4	5	1	2	4	5	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr2:219206751G>A	uc002vhn.3	+	6	809	c.665G>A	c.(664-666)cGg>cAg	p.R222Q	PNKD_uc002vhq.3_Missense_Mutation_p.R198Q	NM_015488	NP_056303	Q8N490	PNKD_HUMAN	Homo sapiens paroxysmal nonkinesigenic dyskinesia (PNKD), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	222						membrane|mitochondrion|nucleus	hydroxyacylglutathione hydrolase activity|zinc ion binding	p.I221M(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	10		Renal(207;0.0474)		Epithelial(149;7.33e-07)|all cancers(144;0.000133)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAGATCCGGGCCCTGGCT	0.597													A	219206751	G	A	219206751	3	1	213	1	0	0	0	0	1	0	0	0	12223	1116	39	1	1056	1	PNKD	2	219206751	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	10213725	219206751	23992622	17	14639											
SGOL1	151648	broad.mit.edu	37	chr3	20225255	20225255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctaaaactaacatttTgttgttgtcttggtaatttt	12	18	6	5	0	1	0	0	0	1	0	1	0	1	0	0	1	3	4	0	1	5	10			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:20225255T>C	uc003cbu.3	-	2	339	c.184A>G	c.(184-186)Aaa>Gaa	p.K62E	SGOL1_uc003cbw.3_Missense_Mutation_p.K62E|SGOL1_uc003cbv.3_Missense_Mutation_p.K62E|SGOL1_uc003cbt.3_Missense_Mutation_p.K62E|SGOL1_uc010hfa.3_Missense_Mutation_p.K62E|SGOL1_uc003cbs.3_Missense_Mutation_p.K62E|SGOL1_uc003cbr.3_Missense_Mutation_p.K62E|SGOL1_uc003ccc.3_Missense_Mutation_p.K62E|SGOL1_uc021wtx.1_Intron|SGOL1_uc021wty.1_Intron|SGOL1_uc003ccb.3_Missense_Mutation_p.K62E|SGOL1_uc003cca.3_Missense_Mutation_p.K62E|SGOL1_uc003cby.3_Missense_Mutation_p.K62E|SGOL1_uc003cbx.3_Missense_Mutation_p.K62E|SGOL1_uc003cbz.3_Missense_Mutation_p.K62E	NM_001012410	NP_001186181	Q5FBB7	SGOL1_HUMAN	Homo sapiens shugoshin-like 1 (S. pombe) (SGOL1), transcript variant A2, mRNA.	62	Necessary for interaction with PPP2CA and PPP2R1A.				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						ACTAACATTTTGTTGTTGTCT	0.294													C	20225255	T	C	20225255	3	2	213	1	0	0	0	0	1	0	0	0	14309	1821	63	3	1549	3	SGOL1	3	20225255	Missense_Mutation	SNP	T	TCGA-28-5213-01A-01D-1486-08		20225255	177797175	18	14640											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50655078	50655078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacccggcttgggcggtgctCcgggggggcggcgggagccc	2	4	22	13	5	0	0	0	0	0	0	1	2	1	1	3	8	2	2	3	8	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:50655078C>T	uc003day.2	+	3	724	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S	MAPKAPK3_uc003daz.2_Missense_Mutation_p.P28S|MAPKAPK3_uc003dba.2_Missense_Mutation_p.P28S|MAPKAPK3_uc010hlr.2_Missense_Mutation_p.P28S	NM_001243926	NP_001230855	Q16644	MAPK3_HUMAN	Homo sapiens mitogen-activated protein kinase-activated protein kinase 3 (MAPKAPK3), transcript variant 1, mRNA.	28			P -> S (in a glioblastoma multiforme sample; somatic mutation).		activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity	p.P28S(1)		central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		GGGCGGTGCTCCGGGGGGGCG	0.697													T	50655078	C	T	50655078	3	4	213	1	0	0	0	0	1	0	0	0	9365	855	30	2	84	2	MAPKAPK3	3	50655078	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	30429823	50655078	147367352	19	14641											
CASR	846	broad.mit.edu	37	chr3	122003457	122003457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctttcaaggtggctgccCgggccacgctgcgccgcagc	5	6	14	16	5	1	0	1	0	0	0	1	0	1	0	3	3	3	4	3	3	1	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:122003457C>T	uc003eew.4	+	6	3124	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	CASR_uc003eev.4_Missense_Mutation_p.R886W	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	886	Interaction with RNF19A.				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGTGGCTGCCCGGGCCACGCT	0.612													T	122003457	C	T	122003457	3	4	213	1	0	0	0	0	1	0	0	0	2708	643	23	1	2708	1	CASR	3	122003457	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	71348379	122003457	76018973	20	14642											
GHSR	2693	broad.mit.edu	37	chr3	172165482	172165482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcgccgcgcctcctcCgccacagcttcctgccgatg	5	7	9	20	5	0	0	0	0	0	0	4	1	3	0	7	0	3	2	7	0	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr3:172165482C>T	uc003fib.2	-	0	765	c.722G>A	c.(721-723)cGg>cAg	p.R241Q	GHSR_uc011bpv.2_Missense_Mutation_p.R241Q	NM_198407	NP_940799	Q92847	GHSR_HUMAN	Homo sapiens growth hormone secretagogue receptor (GHSR), transcript variant 1a, mRNA.	241					actin polymerization or depolymerization|adult feeding behavior|decidualization|growth hormone secretion|hormone-mediated signaling pathway|negative regulation of inflammatory response|negative regulation of interleukin-1 beta production|negative regulation of interleukin-6 biosynthetic process|negative regulation of tumor necrosis factor biosynthetic process|positive regulation of appetite|positive regulation of multicellular organism growth	cell surface|integral to membrane|membrane raft|neuron projection|plasma membrane	growth hormone secretagogue receptor activity|growth hormone-releasing hormone receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	33	Ovarian(172;0.00143)|Breast(254;0.197)		Lung(28;3.93e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			GCGCCTCCTCCGCCACAGCTT	0.602													T	172165482	C	T	172165482	3	4	213	1	0	0	0	0	1	0	0	0	6431	652	23	1	460	1	GHSR	3	172165482	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	50162025	172165482	25856948	21	14643											
WDFY3	23001	broad.mit.edu	37	chr4	85634313	85634313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggaacaaaccacctaccCctgctccacactcgtgtttg	11	8	6	16	1	0	0	0	0	0	0	2	1	1	1	5	1	4	2	5	1	4	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr4:85634313C>T	uc003hpd.3	-	51	8450	c.8042_splice	c.e51+1	p.G2681_splice	WDFY3_uc003hpe.1_Splice_Site_p.G292_splice	NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	2681						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		ACCACCTACCCCTGCTCCACA	0.398													T	85634313	C	T	85634313	3	4	213	1	0	0	0	0	1	0	0	0	17372	637	22	2	2611	2	WDFY3	4	85634313	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		85634313	105519963	22	14644											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834365	101834365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctttttcggaaaccgcCgaaccttatcaaggcctctg	8	13	7	13	3	2	0	1	0	1	0	4	2	3	1	5	2	2	0	5	2	4	4	rs144293843		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr5:101834365C>T	uc003knn.3	-	0	356	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	SLCO6A1_uc003kno.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knp.3_Missense_Mutation_p.G62S|SLCO6A1_uc003knq.3_Missense_Mutation_p.G62S	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	62						integral to membrane|plasma membrane	transporter activity	p.G62A(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CGGAAACCGCCGAACCTTATC	0.537													T	101834365	C	T	101834365	3	4	213	1	0	0	0	0	1	0	0	0	14826	652	23	1	2027	1	SLCO6A1	5	101834365	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		101834365	79080895	23	14645											
TFAP2B	7021	broad.mit.edu	37	chr6	50791291	50791291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaccaccagagccaggacCcctactcccacgtcaacgac	11	4	6	20	2	1	1	1	0	0	1	2	3	2	2	7	1	4	0	7	1	3	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:50791291C>T	uc003pag.3	+	1	419	c.253C>T	c.(253-255)Ccc>Tcc	p.P85S		NM_003221	NP_003212	Q92481	AP2B_HUMAN	Homo sapiens transcription factor AP-2 beta (activating enhancer binding protein 2 beta) (TFAP2B), mRNA.	85	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GAGCCAGGACCCCTACTCCCA	0.682													T	50791291	C	T	50791291	3	4	213	1	0	0	0	0	1	0	0	0	15888	623	22	2	259	2	TFAP2B	6	50791291	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		50791291	120323776	24	14646											
GJA10	84694	broad.mit.edu	37	chr6	90605129	90605129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaggcaacttgaagtagaCccttccaatgggaaaaagga	16	6	10	9	0	0	2	0	1	0	1	1	4	1	4	3	3	1	2	3	3	7	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr6:90605129C>A	uc011eaa.2	+	0	942	c.942C>A	c.(940-942)gaC>gaA	p.D314E		NM_032602	NP_115991	Q969M2	CXA10_HUMAN	Homo sapiens gap junction protein, alpha 10, 62kDa (GJA10), mRNA.	314					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		TTGAAGTAGACCCTTCCAATG	0.498													A	90605129	C	A	90605129	3	1	213	1	0	0	0	0	1	0	0	0	6457	506	18	4	944	4	GJA10	6	90605129	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	39813838	90605129	80509938	25	14647											
ADCY1	107	broad.mit.edu	37	chr7	45717835	45717835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcctggctgccttatttgGccttgtctaccttctaatat	6	17	6	12	0	2	0	0	0	2	0	3	0	3	0	4	2	2	1	4	2	4	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:45717835G>A	uc003tne.4	+	9	1889	c.1871G>A	c.(1870-1872)gGc>gAc	p.G624D		NM_021116	NP_066939	Q08828	ADCY1_HUMAN	Homo sapiens adenylate cyclase 1 (brain) (ADCY1), mRNA.	624					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GCCTTATTTGGCCTTGTCTAC	0.493													A	45717835	G	A	45717835	3	1	213	1	0	0	0	0	1	0	0	0	292	1203	42	2	1909	2	ADCY1	7	45717835	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		45717835	113420828	26	14648											
SUN3	256979	broad.mit.edu	37	chr7	48056901	48056901	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatattctgcaattatggcAtataattgtctggatttctg	10	17	7	7	0	3	0	0	0	3	0	3	1	3	1	1	2	1	2	1	2	5	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:48056901A>G	uc003tof.3	-	3	343	c.246T>C	c.(244-246)taT>taC	p.Y82Y	SUN3_uc003tog.3_Silent_p.Y82Y|SUN3_uc011kcf.2_Silent_p.Y70Y	NM_152782	NP_689995	Q8TAQ9	SUN3_HUMAN	Homo sapiens Sad1 and UNC84 domain containing 3 (SUN3), transcript variant 2, mRNA.	82						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAATTATGGCATATAATTGTC	0.299													G	48056901	A	G	48056901	2	3	213	1	0	0	0	0	0	0	0	1	15489	224	8	3		3	SUN3	7	48056901	Silent	SNP	A	TCGA-28-5213-01A-01D-1486-08	2339066	48056901	111081762	27	14649											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	213	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	7176142	55233043	103905620	28	14650											
TRPM3	80036	broad.mit.edu	37	chr9	73213424	73213424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccagtaaatgatgttcaCgcagtagatgaccctcccgt	12	10	8	11	2	1	3	1	2	0	1	2	3	2	3	3	0	1	4	3	0	4	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:73213424C>T	uc004aid.3	-	19	3167	c.2923G>A	c.(2923-2925)Gtg>Atg	p.V975M	TRPM3_uc004ahu.3_Missense_Mutation_p.V805M|TRPM3_uc004ahv.3_Missense_Mutation_p.V777M|TRPM3_uc004ahw.3_Missense_Mutation_p.V847M|TRPM3_uc004ahx.3_Missense_Mutation_p.V834M|TRPM3_uc004ahy.3_Missense_Mutation_p.V837M|TRPM3_uc004ahz.3_Missense_Mutation_p.V824M|TRPM3_uc004aia.3_Missense_Mutation_p.V822M|TRPM3_uc004aib.3_Missense_Mutation_p.V812M|TRPM3_uc004aic.3_Missense_Mutation_p.V975M	NM_001007471	NP_066003	Q9HCF6	TRPM3_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 3 (TRPM3), transcript variant 9, mRNA.	1000						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						ATGATGTTCACGCAGTAGATG	0.483													T	73213424	C	T	73213424	3	4	213	1	0	0	0	0	1	0	0	0	16688	536	19	1	2224	1	TRPM3	9	73213424	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		73213424	68000007	29	14651											
ERP44	23071	broad.mit.edu	37	chr9	102784454	102784454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcatcatcccattaCgaaacaatttgagggttggg	11	13	8	9	1	4	1	3	1	1	0	5	2	5	1	1	2	2	1	1	2	3	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr9:102784454C>T	uc004bam.3	-	4	549	c.341G>A	c.(340-342)cGt>cAt	p.R114H	ERP44_uc010msy.3_Non-coding_Transcript	NM_015051	NP_055866	Q9BS26	ERP44_HUMAN	Homo sapiens endoplasmic reticulum protein 44 (ERP44), mRNA.	114	Thioredoxin.				cell redox homeostasis|glycoprotein metabolic process|protein folding|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|ER-Golgi intermediate compartment	protein binding|protein disulfide isomerase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)	19						CATCCCATTACGAAACAATTT	0.393													T	102784454	C	T	102784454	3	4	213	1	0	0	0	0	1	0	0	0	5284	536	19	1	911	1	ERP44	9	102784454	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	29571030	102784454	38428977	30	14652											
NEBL	10529	broad.mit.edu	37	chr10	21120216	21120216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctttaatttcattttctAagtccttcttgtattgtttc	6	23	3	9	0	3	0	1	0	2	0	6	0	5	0	2	0	0	2	2	0	3	11			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:21120216A>G	uc001iqi.3	-	15	1977	c.1580T>C	c.(1579-1581)tTa>tCa	p.L527S	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	527					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATTTTCTAAGTCCTTCTT	0.353													G	21120216	A	G	21120216	3	3	213	1	0	0	0	0	1	0	0	0	10379	372	13	3	1516	3	NEBL	10	21120216	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		21120216	114414531	31	14653											
ADAM12	8038	broad.mit.edu	37	chr10	127755335	127755335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacacagcgtccggcttcAgggtacaggtggtggcattg	7	8	15	11	3	1	0	1	0	0	0	2	0	2	0	1	5	2	4	1	5	1	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr10:127755335A>G	uc001ljk.2	-	12	1786	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	ADAM12_uc010qul.1_Missense_Mutation_p.L409P|ADAM12_uc001ljm.3_Missense_Mutation_p.L458P|ADAM12_uc001ljn.3_Missense_Mutation_p.L455P|ADAM12_uc001ljl.4_Missense_Mutation_p.L455P	NM_003474	NP_003465	O43184	ADA12_HUMAN	Homo sapiens ADAM metallopeptidase domain 12 (ADAM12), transcript variant 1, mRNA.	458	Disintegrin.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		GTCCGGCTTCAGGGTACAGGT	0.547													G	127755335	A	G	127755335	3	3	213	1	0	0	0	0	1	0	0	0	236	188	7	3	1508	3	ADAM12	10	127755335	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	106635119	127755335	7779412	32	14654											
MICAL2	9645	broad.mit.edu	37	chr11	12278418	12278418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgtgtacgtgatggaacgGctgagcgccgagggccactt	7	8	16	10	5	0	2	0	2	0	0	0	4	0	3	2	3	3	2	2	3	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:12278418G>A	uc001mjz.3	+	23	3330	c.3042G>A	c.(3040-3042)cgG>cgA	p.R1014R	MICAL2_uc010rch.1_Silent_p.R824R|MICAL2_uc001mka.3_Silent_p.R1014R|MICAL2_uc010rci.2_Silent_p.R993R|MICAL2_uc001mkb.3_Silent_p.R788R|MICAL2_uc001mkc.3_Silent_p.R767R|MICAL2_uc001mkd.3_Silent_p.R596R|MICAL2_uc010rcj.2_Silent_p.R226R|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	1014	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	p.R1014R(2)		breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGATGGAACGGCTGAGCGCCG	0.572													A	12278418	G	A	12278418	2	1	213	1	0	0	0	0	0	0	0	1	9645	1190	42	2		2	MICAL2	11	12278418	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		12278418	122728098	33	14655											
AHNAK	79026	broad.mit.edu	37	chr11	62288237	62288237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcctttgacatccactttgGgacctttcagatctccctcc	6	13	7	15	0	2	2	1	1	1	1	5	3	4	3	5	2	0	0	5	2	0	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62288237G>A	uc001ntl.3	-	4	13952	c.13652C>T	c.(13651-13653)cCc>cTc	p.P4551L	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	4551					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACTTTGGGACCTTTCAG	0.423													A	62288237	G	A	62288237	3	1	213	1	0	0	0	0	1	0	0	0	414	1232	43	2	4140	2	AHNAK	11	62288237	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	50009819	62288237	72718279	34	14656											
GANAB	23193	broad.mit.edu	37	chr11	62396739	62396739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaaatggtcccactcGgcagtgttgtcccctgtcca	7	12	8	14	1	2	0	1	0	1	0	6	0	5	0	4	2	0	2	4	2	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:62396739G>A	uc001nua.3	-	16	1962	c.1929C>T	c.(1927-1929)gcC>gcT	p.A643A	GANAB_uc001nub.3_Silent_p.A621A|GANAB_uc001nuc.3_Silent_p.A524A|GANAB_uc010rma.2_Silent_p.A529A|GANAB_uc010rmb.2_Silent_p.A507A	NM_198335	NP_938149	Q14697	GANAB_HUMAN	Homo sapiens glucosidase, alpha; neutral AB (GANAB), transcript variant 3, mRNA.	621					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GGTCCCACTCGGCAGTGTTGT	0.527													A	62396739	G	A	62396739	2	1	213	1	0	0	0	0	0	0	0	1	6287	1103	39	1		1	GANAB	11	62396739	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	108502	62396739	72609777	35	14657											
MUS81	80198	broad.mit.edu	37	chr11	65628471	65628471	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccctccgacggtacccaCtgccgctgcgcagcgggaag	6	6	13	16	5	0	0	0	0	0	0	2	2	2	1	4	2	4	4	4	2	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:65628471C>T	uc001ofv.4	+	1	516	c.163C>T	c.(163-165)Ctg>Ttg	p.L55L	CFL1_uc001ofs.3_5'Flank|CFL1_uc001oft.3_5'Flank|MUS81_uc001ofx.4_5'Flank	NM_025128	NP_079404	Q96NY9	MUS81_HUMAN	Homo sapiens MUS81 endonuclease homolog (S. cerevisiae) (MUS81), mRNA.	55					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		ACGGTACCCACTGCCGCTGCG	0.682								Homologous recombination					T	65628471	C	T	65628471	2	4	213	1	0	0	0	0	0	0	0	1	10064	564	20	2		2	MUS81	11	65628471	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	3231732	65628471	69378045	36	14658											
OR2AT4	341152	broad.mit.edu	37	chr11	74800717	74800717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaatagatagaagacGggtgagccatccactgattc	13	8	10	10	1	0	5	0	2	0	3	2	5	1	5	3	1	2	0	3	1	4	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:74800717G>A	uc010rro.2	-	0	42	c.42C>T	c.(40-42)ccC>ccT	p.P14P		NM_001005285	NP_001005285	A6NND4	O2AT4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AT, member 4 (OR2AT4), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						GATAGAAGACGGGTGAGCCAT	0.478													A	74800717	G	A	74800717	2	1	213	1	0	0	0	0	0	0	0	1	11063	1103	39	1		1	OR2AT4	11	74800717	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	9172246	74800717	60205799	37	14659											
MLL	4297	broad.mit.edu	37	chr11	118375649	118375649	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagccctccttgtggttcAgtagagcaaggtcatggcaa	9	11	11	10	0	3	1	2	0	1	1	4	1	4	1	2	3	2	4	2	3	4	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr11:118375649A>C	uc001pta.3	+	26	9056	c.9033A>C	c.(9031-9033)tcA>tcC	p.S3011S	MLL_uc001ptb.3_Silent_p.S3014S	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	3011					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		CTTGTGGTTCAGTAGAGCAAG	0.502			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118375649	A	C	118375649	2	2	213	1	0	0	0	0	0	0	0	1	9695	175	7	5		5	MLL	11	118375649	Silent	SNP	A	TCGA-28-5213-01A-01D-1486-08	43574932	118375649	16630867	38	14660											
C12orf35	55196	broad.mit.edu	37	chr12	32137685	32137685	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacccaaaacaaaacataaaAgcttaccaaggacagaacaa	23	3	4	11	0	0	1	0	0	0	1	0	2	0	2	2	1	5	1	2	1	10	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:32137685A>C	uc001rks.3	+	3	4210	c.3796A>C	c.(3796-3798)Agc>Cgc	p.S1266R		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	1266										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			AAAACATAAAAGCTTACCAAG	0.348													C	32137685	A	C	32137685	3	2	213	1	0	0	0	0	1	0	0	0	1695	72	3	5	3798	5	C12orf35	12	32137685	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		32137685	101714210	39	14661											
LRP1	4035	broad.mit.edu	37	chr12	57562923	57562923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttcccccaccgccagAcaatgactgtggggacaaca	10	7	8	16	1	1	2	0	1	1	1	2	3	2	3	5	2	1	0	5	2	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:57562923A>G	uc001snd.3	+	20	3462	c.2996_splice	c.e20-1	p.D999_splice	LRP1_uc009zpi.1_Splice_Site	NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	999	LDL-receptor class A 6.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCACCGCCAGACAATGACTGT	0.627													G	57562923	A	G	57562923	3	3	213	1	0	0	0	0	1	0	0	0	9021	289	10	3	3074	3	LRP1	12	57562923	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	25425238	57562923	76288972	40	14662											
UBE3B	89910	broad.mit.edu	37	chr12	109921388	109921388	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctcagacctcgagagcatGgttcatcgatagagcccgtc	9	9	11	12	3	2	3	2	0	1	3	6	5	2	3	2	1	2	2	2	1	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:109921388G>A	uc001top.3	+	2	635	c.32G>A	c.(31-33)tGg>tAg	p.W11*	UBE3B_uc001toq.3_Nonsense_Mutation_p.W11*|UBE3B_uc001tom.3_Nonsense_Mutation_p.W11*|UBE3B_uc001ton.3_Nonsense_Mutation_p.W11*|UBE3B_uc001too.1_Non-coding_Transcript|UBE3B_uc009zvj.1_Nonsense_Mutation_p.W11*|UBE3B_uc001tor.3_Nonsense_Mutation_p.W11*	NM_130466	NP_904324	Q7Z3V4	UBE3B_HUMAN	Homo sapiens ubiquitin protein ligase E3B (UBE3B), transcript variant 1, mRNA.	11					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TCGAGAGCATGGTTCATCGAT	0.512													A	109921388	G	A	109921388	4	1	213	1	0	0	0	0	0	1	0	0	16982	1357	47	2	34	2	UBE3B	12	109921388	Nonsense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	52358465	109921388	23930507	41	14663											
KDM2B	84678	broad.mit.edu	37	chr12	121880495	121880495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcggtgctgggtcccgCggtgggggagctggagcggg	2	7	21	11	4	0	0	0	0	0	0	2	2	1	2	2	7	3	2	2	7	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr12:121880495C>T	uc001uat.3	-	18	2853	c.2749G>A	c.(2749-2751)Gcg>Acg	p.A917T	KDM2B_uc010szy.2_Missense_Mutation_p.A357T|KDM2B_uc001uaq.3_Missense_Mutation_p.A357T|KDM2B_uc001uar.3_Missense_Mutation_p.A508T|KDM2B_uc001uas.3_Missense_Mutation_p.A848T|KDM2B_uc021rfd.1_Missense_Mutation_p.A848T|KDM2B_uc001uau.3_Intron|KDM2B_uc021rfe.1_Missense_Mutation_p.A917T|KDM2B_uc001uao.3_Missense_Mutation_p.A165T|KDM2B_uc010szx.2_Missense_Mutation_p.A165T|KDM2B_uc001uap.3_Non-coding_Transcript	NM_032590	NP_115979	Q8NHM5	KDM2B_HUMAN	Homo sapiens lysine (K)-specific demethylase 2B (KDM2B), transcript variant 1, mRNA.	917					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding	p.D916N(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTGGGTCCCGCGGTGGGGGAG	0.692													T	121880495	C	T	121880495	3	4	213	1	0	0	0	0	1	0	0	0	8183	768	27	1	1333	1	KDM2B	12	121880495	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	11959107	121880495	11971400	42	14664											
SACS	26278	broad.mit.edu	37	chr13	23942617	23942617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagtggtggcgttgtctgaCcaaatcgacctaaaatacgg	12	9	11	9	3	1	1	0	1	1	0	2	2	1	1	2	3	1	1	2	3	5	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr13:23942617C>A	uc001uon.2	-	4	858	c.269G>T	c.(268-270)gGt>gTt	p.G90V	SACS_uc001uoo.2_5'UTR|SACS_uc001uoq.1_5'UTR	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	90					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGTTGTCTGACCAAATCGACC	0.393													A	23942617	C	A	23942617	3	1	213	1	0	0	0	0	1	0	0	0	13895	507	18	4	13494	4	SACS	13	23942617	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08		23942617	91227261	43	14665											
ATL1	51062	broad.mit.edu	37	chr14	51027003	51027003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccaagaaccgcagggAcagaaacagttggggtgagt	13	5	15	8	1	0	3	0	1	0	2	0	4	0	4	2	4	2	2	2	4	3	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:51027003A>G	uc021rsw.1	+	0	261	c.20A>G	c.(19-21)gAc>gGc	p.D7G	ATL1_uc001wyd.4_Missense_Mutation_p.D7G|ATL1_uc001wyf.4_Missense_Mutation_p.D7G|ATL1_uc001wye.4_Missense_Mutation_p.D7G|ATL1_uc021rsx.1_Missense_Mutation_p.D7G	NM_015915	NP_056999	Q8WXF7	ATLA1_HUMAN	Homo sapiens atlastin GTPase 1 (ATL1), transcript variant 1, mRNA.	7					axonogenesis|cell death|endoplasmic reticulum organization|protein homooligomerization	axon|endoplasmic reticulum membrane|Golgi cis cisterna|Golgi membrane|integral to membrane|microsome	GTP binding|GTPase activity|identical protein binding			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						AACCGCAGGGACAGAAACAGT	0.632													G	51027003	A	G	51027003	3	3	213	1	0	0	0	0	1	0	0	0	1111	275	10	3	22	3	ATL1	14	51027003	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08		51027003	56322537	44	14666											
CLMN	79789	broad.mit.edu	37	chr14	95677204	95677204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcaaagtcctgcacCgccacgccatacctgaagga	10	5	9	17	3	0	1	0	1	0	0	1	2	1	2	6	1	3	2	6	1	3	1	rs139868659		TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr14:95677204C>T	uc001yef.2	-	6	737	c.621G>A	c.(619-621)gcG>gcA	p.A207A		NM_024734	NP_079010	Q96JQ2	CLMN_HUMAN	Homo sapiens calmin (calponin-like, transmembrane) (CLMN), mRNA.	207	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGTCCTGCACCGCCACGCCAT	0.582													T	95677204	C	T	95677204	2	4	213	1	0	0	0	0	0	0	0	1	3573	639	23	1		1	CLMN	14	95677204	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	44650201	95677204	11672336	45	14667											
ATP10A	57194	broad.mit.edu	37	chr15	25953147	25953147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtgcaggttggtctccaGgcgaatggcagactggaaga	11	7	15	8	1	1	2	0	0	1	2	2	4	1	3	1	5	1	3	1	5	3	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:25953147G>A	uc010ayu.3	-	11	2657	c.2551C>T	c.(2551-2553)Ctg>Ttg	p.L851L		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	851					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.R850C(1)		NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGGTCTCCAGGCGAATGGCA	0.537													A	25953147	G	A	25953147	2	1	213	1	0	0	0	0	0	0	0	1	1121	991	35	2		2	ATP10A	15	25953147	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		25953147	76578245	46	14668											
SERINC4	619189	broad.mit.edu	37	chr15	44090144	44090144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttccaggaatgggcaaaAgctgtaataagcaccaactg	14	9	10	8	0	0	0	0	0	0	0	1	1	1	1	2	2	3	5	2	2	6	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr15:44090144A>G	uc001zte.1	-	4	718	c.86T>C	c.(85-87)cTt>cCt	p.L29P	ELL3_uc001zsx.1_5'UTR|C15orf63_uc001ztb.3_Intron|SERINC4_uc001ztc.1_Non-coding_Transcript|SERINC4_uc010bds.1_Missense_Mutation_p.L29P|C15orf63_uc001ztf.3_5'Flank|C15orf63_uc021skf.1_5'Flank|C15orf63_uc001ztg.1_5'Flank	NM_001033517	NP_001028689	A6NH21	SERC4_HUMAN	Homo sapiens serine incorporator 4 (SERINC4), mRNA.	272					phospholipid biosynthetic process	integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)	6		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		GBM - Glioblastoma multiforme(94;7.81e-07)		AATGGGCAAAAGCTGTAATAA	0.463											OREG0003944	type=REGULATORY REGION|Gene=AK094716|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	44090144	A	G	44090144	3	3	213	1	0	0	0	0	1	0	0	0	14175	72	3	3	766	3	SERINC4	15	44090144	Missense_Mutation	SNP	A	TCGA-28-5213-01A-01D-1486-08	18136997	44090144	58441248	47	14669											
GRIN2A	2903	broad.mit.edu	37	chr16	9857047	9857047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattttcttgtacacgcGtctattgctgcaggaattta	9	15	9	8	2	2	0	0	0	2	0	2	1	2	1	0	2	3	4	0	2	4	8			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9857047G>A	uc010uym.2	-	13	4664	c.4354C>T	c.(4354-4356)Cgc>Tgc	p.R1452C	GRIN2A_uc002czo.4_Missense_Mutation_p.R1452C|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1452					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R1452H(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTGTACACGCGTCTATTGCTG	0.363													A	9857047	G	A	9857047	3	1	213	1	0	0	0	0	1	0	0	0	6834	1145	40	1	44	1	GRIN2A	16	9857047	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		9857047	80497706	48	14670											
GRIN2A	2903	broad.mit.edu	37	chr16	9934645	9934645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaactgccatgactgcccGttgatagaccacctggatgc	9	8	10	14	1	0	3	0	2	0	1	0	4	0	4	5	1	4	1	5	1	2	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:9934645G>A	uc010uym.2	-	7	1820	c.1510C>T	c.(1510-1512)Cgg>Tgg	p.R504W	GRIN2A_uc002czo.4_Missense_Mutation_p.R504W|GRIN2A_uc010uyn.2_Missense_Mutation_p.R347W|GRIN2A_uc002czr.4_Missense_Mutation_p.R504W	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	504					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGACTGCCCGTTGATAGACC	0.453													A	9934645	G	A	9934645	3	1	213	1	0	0	0	0	1	0	0	0	6834	1144	40	1	2912	1	GRIN2A	16	9934645	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	77598	9934645	80420108	49	14671											
CDH15	1013	broad.mit.edu	37	chr16	89261354	89261354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgagggtgacggctcggtgGcggggacgctgagctccatc	6	6	18	11	5	0	2	0	2	0	0	3	4	1	3	1	6	1	3	1	6	0	0			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr16:89261354G>A	uc002fmt.3	+	13	2313	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	746					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGGCTCGGTGGCGGGGACGCT	0.637													A	89261354	G	A	89261354	3	1	213	1	0	0	0	0	1	0	0	0	3130	1203	42	2	2290	2	CDH15	16	89261354	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	79326709	89261354	1093399	50	14672											
PFAS	5198	broad.mit.edu	37	chr17	8158344	8158344	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcaggcccattgttcaGgctgaacttctccaccccaa	10	9	6	16	0	3	1	2	1	1	0	4	1	3	1	5	2	1	2	5	2	2	3			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:8158344G>A	uc002gkr.3	+	4	420	c.279_splice	c.e4-1	p.R93_splice	PFAS_uc010vuv.2_Splice_Site	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	93					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCATTGTTCAGGCTGAACTTC	0.632													A	8158344	G	A	8158344	5	1	213	1	0	0	0	0	0	0	1	0	11831	1014	35	2	288	2	PFAS	17	8158344	Splice_Site	SNP	G	TCGA-28-5213-01A-01D-1486-08		8158344	73036866	51	14673											
NTN1	9423	broad.mit.edu	37	chr17	9066204	9066204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctttcggggcgcaagagcGgaggtgtctgcctcaactgt	7	9	15	10	3	2	1	1	0	1	1	3	2	2	2	1	4	4	2	1	4	2	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:9066204G>A	uc002glw.4	+	2	1200	c.1093G>A	c.(1093-1095)Gga>Aga	p.G365R		NM_004822	NP_004813	O95631	NET1_HUMAN	Homo sapiens netrin 1 (NTN1), mRNA.	365	Laminin EGF-like 2.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						GCGCAAGAGCGGAGGTGTCTG	0.627													A	9066204	G	A	9066204	3	1	213	1	0	0	0	0	1	0	0	0	10776	1117	39	1	1099	1	NTN1	17	9066204	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	907860	9066204	72129006	52	14674											
DGKE	8526	broad.mit.edu	37	chr17	54925329	54925329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcaaagccctacaactctGtactcttctcccatattatt	11	15	2	13	0	4	0	1	0	3	0	5	0	4	0	2	0	4	1	2	0	7	7			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr17:54925329G>T	uc002iur.3	+	4	971	c.791G>T	c.(790-792)tGt>tTt	p.C264F	DGKE_uc002ius.1_Missense_Mutation_p.C264F	NM_003647	NP_003638	P52429	DGKE_HUMAN	Homo sapiens diacylglycerol kinase, epsilon 64kDa (DGKE), mRNA.	264	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					CTACAACTCTGTACTCTTCTC	0.388													T	54925329	G	T	54925329	3	4	213	1	0	0	0	0	1	0	0	0	4507	1377	48	4	805	4	DGKE	17	54925329	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	45859125	54925329	26269881	53	14675											
MIDN	90007	broad.mit.edu	37	chr19	1257138	1257138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcacccagccgcaaggccgGccgcagcgacagcagtagca	10	2	13	16	4	1	0	1	0	0	0	1	1	1	0	4	2	4	5	4	2	2	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:1257138G>A	uc002lrp.3	+	7	1789	c.1274G>A	c.(1273-1275)gGc>gAc	p.G425D		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	425						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CGCAAGGCCGGCCGCAGCGAC	0.697													A	1257138	G	A	1257138	3	1	213	1	0	0	0	0	1	0	0	0	9654	1203	42	2	1300	2	MIDN	19	1257138	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		1257138	57871845	54	14676											
FUT3	2525	broad.mit.edu	37	chr19	5844200	5844200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccgtacacgtccaccttGagatgagcctgcaggctctg	7	9	11	14	3	1	2	0	2	1	1	3	3	3	2	4	1	3	3	4	1	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:5844200G>A	uc002mdk.2	-	1	748	c.651C>T	c.(649-651)ctC>ctT	p.L217L	FUT3_uc002mdm.2_Silent_p.L217L|FUT3_uc002mdj.2_Silent_p.L217L|FUT3_uc002mdl.2_Silent_p.L217L|FUT3_uc021unn.1_Silent_p.L217L	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	217					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CGTCCACCTTGAGATGAGCCT	0.622													A	5844200	G	A	5844200	2	1	213	1	0	0	0	0	0	0	0	1	6157	1277	45	2		2	FUT3	19	5844200	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08	4587062	5844200	53284783	55	14677											
RAB11B	9230	broad.mit.edu	37	chr19	8464851	8464851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatcggcgtggagttcGccacccgcagcatccaggtg	7	6	13	15	4	0	0	0	0	0	0	3	1	1	1	4	3	1	4	4	3	0	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:8464851G>T	uc002mju.4	+	1	241	c.145G>T	c.(145-147)Gcc>Tcc	p.A49S	RAB11B_uc021uof.1_5'Flank	NM_004218	NP_004209	Q15907	RB11B_HUMAN	Homo sapiens RAB11B, member RAS oncogene family (RAB11B), mRNA.	49					cell cycle|protein transport|small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			large_intestine(2)|lung(1)|ovary(1)	4						CGTGGAGTTCGCCACCCGCAG	0.652													T	8464851	G	T	8464851	3	4	213	1	0	0	0	0	1	0	0	0	12980	1087	38	4	151	4	RAB11B	19	8464851	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08	2620651	8464851	50664132	56	14678											
MUC16	94025	broad.mit.edu	37	chr19	9069909	9069909	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggaaaagtggagagcCtggtgatggtttctgtggag	12	9	16	4	0	1	2	0	1	1	1	1	5	1	4	1	5	1	1	1	5	4	1			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9069909C>A	uc002mkp.3	-	2	17741	c.17537G>T	c.(17536-17538)aGg>aTg	p.R5846M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5848	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						AGTGGAGAGCCTGGTGATGGT	0.488													A	9069909	C	A	9069909	3	1	213	1	0	0	0	0	1	0	0	0	10049	681	24	4	26314	4	MUC16	19	9069909	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	605058	9069909	50059074	57	14679											
FBXL12	54850	broad.mit.edu	37	chr19	9929295	9929296	+	Splice_Site	INS	-	-	G																															ttccagcggtgacagaccctINSgggggaggggacgcgcggtt																										TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr19:9929295_9929296insG	uc002mme.3	-	2	329	c.87_splice	c.e2-1	p.R29_splice	FBXL12_uc002mmd.3_5'UTR|FBXL12_uc002mmf.3_Splice_Site|FBXL12_uc002mmg.3_Splice_Site	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	29	F-box.						protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						TGACAGACCCTGGGGGAGGGGA	0.723													G	9929296	-	G	9929295	8	5	213	1	0	1	1	0	0	0	1	0	5757	1594	55	0	903	0	FBXL12	19	9929295	Splice_Site	INS	-	TCGA-28-5213-01A-01D-1486-08	859386	9929295	49199688	58	14680											
MATN4	8785	broad.mit.edu	37	chr20	43933304	43933304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgccaacgcgcgtggcGttgggacccacgttcaggcc	7	6	13	15	6	2	0	2	0	0	0	2	1	2	1	3	3	1	2	3	3	1	2			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:43933304G>A	uc002xnn.2	-	2	394	c.207C>T	c.(205-207)aaC>aaT	p.N69N	MATN4_uc002xnp.2_Silent_p.N69N|MATN4_uc002xno.2_Silent_p.N69N|MATN4_uc010zwr.1_Silent_p.N17N|MATN4_uc002xnr.1_Silent_p.N69N|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	69	VWFA 1.					extracellular region	protein binding	p.N69fs*3(2)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				CGCGCGTGGCGTTGGGACCCA	0.642													A	43933304	G	A	43933304	2	1	213	1	0	0	0	0	0	0	0	1	9411	1136	40	1		1	MATN4	20	43933304	Silent	SNP	G	TCGA-28-5213-01A-01D-1486-08		43933304	19092216	59	14681											
LAMA5	3911	broad.mit.edu	37	chr20	60897158	60897158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtcgcagcgctccccgCtgagccccggggggcagttg	4	6	17	14	4	0	1	0	1	0	0	2	1	1	1	4	4	2	5	4	4	0	1	rs143066016	byFrequency	TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chr20:60897158C>T	uc002ycq.3	-	47	6480	c.6413G>A	c.(6412-6414)aGc>aAc	p.S2138N	LAMA5_uc021wfw.1_Missense_Mutation_p.S2138N	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	2138	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCGCTCCCCGCTGAGCCCCGG	0.701													T	60897158	C	T	60897158	3	4	213	1	0	0	0	0	1	0	0	0	8668	797	28	2	4806	2	LAMA5	20	60897158	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	16963854	60897158	2128362	60	14682											
ASMT	438	broad.mit.edu	37	chrX	1746630	1746630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacctggagacgtttggcGttcccgctgaagagcttttt	7	13	12	9	3	0	3	0	1	0	2	1	4	1	3	2	2	2	5	2	2	2	5			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:1746630G>A	uc004cqd.3	+	4	625	c.409G>A	c.(409-411)Gtt>Att	p.V137I	ASMT_uc010ncy.3_Missense_Mutation_p.V137I|ASMT_uc004cqe.3_Missense_Mutation_p.V137I	NM_004043	NP_004034	P46597	HIOM_HUMAN	Homo sapiens acetylserotonin O-methyltransferase (ASMT), transcript variant 2, mRNA.	137					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACGTTTGGCGTTCCCGCTGA	0.378													A	1746630	G	A	1746630	3	1	213	1	0	0	0	0	1	0	0	0	1050	1145	40	1	423	1	ASMT	23	1746630	Missense_Mutation	SNP	G	TCGA-28-5213-01A-01D-1486-08		1746630	153523930	61	14683											
NR0B1	190	broad.mit.edu	37	chrX	30327199	30327199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgtcgcctcgggcgccttCggtgccgcgtacgtttgctt	2	11	14	14	8	0	0	0	0	0	0	3	0	0	0	3	2	4	3	3	2	1	4			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:30327199C>T	uc004dcf.4	-	0	297	c.282G>A	c.(280-282)ccG>ccA	p.P94P		NM_000475	NP_000466	P51843	NR0B1_HUMAN	Homo sapiens nuclear receptor subfamily 0, group B, member 1 (NR0B1), mRNA.	94	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding	p.P94P(2)		central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	CGGGCGCCTTCGGTGCCGCGT	0.687													T	30327199	C	T	30327199	2	4	213	1	0	0	0	0	0	0	0	1	10689	871	31	1		1	NR0B1	23	30327199	Silent	SNP	C	TCGA-28-5213-01A-01D-1486-08	28580569	30327199	124943361	62	14684											
KIAA2022	340533	broad.mit.edu	37	chrX	73962950	73962950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgacttttctcttggctCgcagcccatagttctgttgg	5	16	9	11	1	3	1	0	1	3	0	5	1	3	1	1	2	1	4	1	2	1	6			TCGA-28-5213-01A-01D-1486-08	TCGA-28-5213-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b866e742-5ed0-4d7d-b96c-52f8f6f37142	c73947a3-b996-4e71-98ea-c30c8de3069c	g.chrX:73962950C>T	uc004eby.3	-	2	2059	c.1442G>A	c.(1441-1443)cGa>cAa	p.R481Q		NM_001008537	NP_001008537	Q5QGS0	K2022_HUMAN	Homo sapiens KIAA2022 (KIAA2022), mRNA.	481					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	p.R481*(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTCTTGGCTCGCAGCCCATA	0.453													T	73962950	C	T	73962950	3	4	213	1	0	0	0	0	1	0	0	0	8327	884	31	1	3116	1	KIAA2022	23	73962950	Missense_Mutation	SNP	C	TCGA-28-5213-01A-01D-1486-08	43635751	73962950	81307610	63	14685											
CPSF3L	54973	broad.mit.edu	37	chr1	1256376	1256376	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcccaagggactcacGtcgtcattgaagcccatgtg	8	9	10	14	2	2	1	2	1	0	0	4	2	3	2	3	1	2	0	3	1	2	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:1256376G>A	uc001aef.1	-	4	657	c.144_splice	c.e4+1	p.D48_splice	CPSF3L_uc001aee.1_Splice_Site_p.D42_splice|CPSF3L_uc009vjz.1_Splice_Site_p.D42_splice|CPSF3L_uc010nyj.1_Splice_Site_p.D13_splice|CPSF3L_uc001aeg.1_5'UTR|CPSF3L_uc001aeh.1_Splice_Site_p.D42_splice|CPSF3L_uc001aei.1_Intron|CPSF3L_uc001aek.1_Intron|CPSF3L_uc001ael.2_5'UTR|CPSF3L_uc001aen.1_Silent_p.D42D			Q5TA45	INT11_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 3-like (CPSF3L), mRNA.	42						Golgi apparatus|nucleus	hydrolase activity	p.D42E(1)		endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		AGGGACTCACGTCGTCATTGA	0.647													A	1256376	G	A	1256376	2	1	214	1	0	0	0	0	0	0	0	1	3858	1159	40	1		1	CPSF3L	1	1256376	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08		1256376	247994245	1	14686											
NPHP4	261734	broad.mit.edu	37	chr1	5937354	5937354	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgtgcttgcaccacgtgTtttcctgcgaaagggtcaga	7	13	11	10	2	2	1	1	0	1	1	3	2	3	1	2	1	3	3	2	1	1	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:5937354T>C	uc001alq.2	-	19	2884	c.2616A>G	c.(2614-2616)aaA>aaG	p.K872K	NPHP4_uc001als.2_Non-coding_Transcript|NPHP4_uc009vlt.2_Non-coding_Transcript|NPHP4_uc001alt.2_Non-coding_Transcript	NM_015102	NP_055917	O75161	NPHP4_HUMAN	Homo sapiens nephronophthisis 4 (NPHP4), mRNA.	872					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCACGTGTTTTCCTGCGA	0.632													C	5937354	T	C	5937354	2	2	214	1	0	0	0	0	0	0	0	1	10657	1722	60	3		3	NPHP4	1	5937354	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	4680978	5937354	243313267	2	14687											
MACF1	23499	broad.mit.edu	37	chr1	39833905	39833905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagctcttgtggctttgCgctggacttgtgccagcatc	5	13	12	11	1	1	1	0	1	1	0	2	2	1	2	1	2	4	4	1	2	0	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:39833905C>T	uc021olw.1	+	13	8177	c.8177C>T	c.(8176-8178)gCg>gTg	p.A2726V	MACF1_uc021ols.1_Missense_Mutation_p.A2224V|MACF1_uc001cdc.2_Missense_Mutation_p.A2224V|MACF1_uc021olt.1_Missense_Mutation_p.A2224V|MACF1_uc001cda.1_Missense_Mutation_p.A2132V|MACF1_uc001cdb.1_Missense_Mutation_p.A1311V	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	4291					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGTGGCTTTGCGCTGGACTTG	0.453													T	39833905	C	T	39833905	3	4	214	1	0	0	0	0	1	0	0	0	9215	768	27	1	13000	1	MACF1	1	39833905	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	33896551	39833905	209416716	3	14688											
CLCA2	9635	broad.mit.edu	37	chr1	86916416	86916416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccaggttacacagcaaacGgtaagaaccattagcactgt	15	8	8	10	1	0	1	0	0	0	1	0	1	0	1	2	2	6	4	2	2	6	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:86916416G>A	uc001dlr.4	+	12	2317	c.2155_splice	c.e12+1	p.G719_splice		NM_006536	NP_006527	Q9UQC9	CLCA2_HUMAN	Homo sapiens chloride channel accessory 2 (CLCA2), mRNA.	719					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CACAGCAAACGGTAAGAACCA	0.453													A	86916416	G	A	86916416	3	1	214	1	0	0	0	0	1	0	0	0	3489	1130	39	1	2201	1	CLCA2	1	86916416	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	47082511	86916416	162334205	4	14689											
EPHX4	253152	broad.mit.edu	37	chr1	92528664	92528664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccaacactactactgtggGgagagaatgacgcattcatg	12	9	10	10	1	1	2	1	1	0	1	2	4	2	3	1	2	3	1	1	2	4	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:92528664G>A	uc001don.2	+	6	1014	c.910G>A	c.(910-912)Gga>Aga	p.G304R		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	304						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ACTACTGTGGGGAGAGAATGA	0.398													A	92528664	G	A	92528664	3	1	214	1	0	0	0	0	1	0	0	0	5223	1233	43	2	936	2	EPHX4	1	92528664	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	5612248	92528664	156721957	5	14690											
DPYD	1806	broad.mit.edu	37	chr1	98293688	98293688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcattgcttctcggagaGctcctcgctcaccaagagtc	8	10	8	15	2	3	2	2	0	1	2	7	3	4	2	3	1	2	3	3	1	1	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:98293688G>C	uc001drv.3	-	2	352	c.215C>G	c.(214-216)gCt>gGt	p.A72G	DPYD_uc010oub.1_Non-coding_Transcript|DPYD_uc001drw.3_Missense_Mutation_p.A72G	NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	72	4Fe-4S ferredoxin-type 1.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTCTCGGAGAGCTCCTCGCTC	0.393													C	98293688	G	C	98293688	3	2	214	1	0	0	0	0	1	0	0	0	4784	971	34	4	2989	4	DPYD	1	98293688	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	5765024	98293688	150956933	6	14691											
FLG	2312	broad.mit.edu	37	chr1	152280977	152280977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccctcttgggatgctgAgtgcctggagctgtcttgtg	4	13	14	10	0	2	2	0	2	2	0	2	4	2	4	2	2	3	2	2	2	0	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152280977A>G	uc001ezu.1	-	2	6421	c.6385T>C	c.(6385-6387)Tca>Cca	p.S2129P		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2129	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGGATGCTGAGTGCCTGGAG	0.572									Ichthyosis				G	152280977	A	G	152280977	3	3	214	1	0	0	0	0	1	0	0	0	5971	304	11	3	5804	3	FLG	1	152280977	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	53987289	152280977	96969644	7	14692											
FLG	2312	broad.mit.edu	37	chr1	152282616	152282616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcttgtcttggacccCgctgattctccctggcccac	3	11	9	18	2	2	1	0	1	2	0	3	2	2	2	5	2	1	2	5	2	0	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:152282616C>T	uc001ezu.1	-	2	4782	c.4746G>A	c.(4744-4746)gcG>gcA	p.A1582A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1582	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTTGGACCCCGCTGATTCTC	0.602									Ichthyosis				T	152282616	C	T	152282616	2	4	214	1	0	0	0	0	0	0	0	1	5971	639	23	1		1	FLG	1	152282616	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	1639	152282616	96968005	8	14693											
PKP1	5317	broad.mit.edu	37	chr1	201289494	201289494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaactgtgtagcggccagCcgctgtgacgacaaggtgag	10	6	15	10	3	0	3	0	2	0	1	0	4	0	3	2	2	3	2	2	2	3	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:201289494C>T	uc001gwd.3	+	7	1646	c.1395C>T	c.(1393-1395)agC>agT	p.S465S	PKP1_uc001gwe.3_Silent_p.S444S|PKP1_uc009wzm.3_Silent_p.S52S	NM_000299	NP_000290	Q13835	PKP1_HUMAN	Homo sapiens plakophilin 1 (ectodermal dysplasia/skin fragility syndrome) (PKP1), transcript variant 1b, mRNA.	465					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						TAGCGGCCAGCCGCTGTGACG	0.612													T	201289494	C	T	201289494	2	4	214	1	0	0	0	0	0	0	0	1	12061	738	26	2		2	PKP1	1	201289494	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	49006878	201289494	47961127	9	14694											
USH2A	7399	broad.mit.edu	37	chr1	216061963	216061963	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctcatggaatgactcctCgggagagtcaccagggtagt	11	8	12	10	1	2	2	2	1	0	1	4	4	3	3	3	3	1	1	3	3	3	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr1:216061963C>T	uc001hku.1	-	40	8415	c.8028G>A	c.(8026-8028)ccG>ccA	p.P2676P		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2676	Fibronectin type-III 13.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.L2675V(1)		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)		AATGACTCCTCGGGAGAGTCA	0.468										HNSCC(13;0.011)			T	216061963	C	T	216061963	2	4	214	1	0	0	0	0	0	0	0	1	17138	871	31	1		1	USH2A	1	216061963	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	14772469	216061963	33188658	10	14695											
POLR1A	25885	broad.mit.edu	37	chr2	86272753	86272753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacatacaggaggtttgatgCcggtgaggaacctgccagtg	10	9	14	8	1	0	2	0	2	0	0	0	4	0	4	3	4	5	1	3	4	3	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:86272753C>T	uc002sqs.3	-	19	3252	c.2873G>A	c.(2872-2874)gGc>gAc	p.G958D	POLR1A_uc010ytb.2_Missense_Mutation_p.G324D|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	958					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGGTTTGATGCCGGTGAGGAA	0.512													T	86272753	C	T	86272753	3	4	214	1	0	0	0	0	1	0	0	0	12286	739	26	2	2349	2	POLR1A	2	86272753	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		86272753	156926620	11	14696											
PCDP1	200373	broad.mit.edu	37	chr2	120385285	120385285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggatgattataccagcCggttctctgtgtcgcccaag	8	11	11	11	2	2	1	1	1	1	0	4	2	2	2	3	2	2	1	3	2	3	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:120385285C>T	uc002tmb.3	+	16	1827	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	PCDP1_uc010yyq.2_Missense_Mutation_p.R369W	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	525						cilium	calmodulin binding					Colorectal(110;0.196)					TTATACCAGCCGGTTCTCTGT	0.537													T	120385285	C	T	120385285	3	4	214	1	0	0	0	0	1	0	0	0	11648	643	23	1	745	1	PCDP1	2	120385285	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	34112532	120385285	122814088	12	14697											
ZNF142	7701	broad.mit.edu	37	chr2	219503257	219503257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttgtagttgcagaggcgGcaaaagaaggggtggcggtc	9	7	18	7	2	0	2	0	0	0	2	1	2	0	2	1	6	1	4	1	6	4	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr2:219503257G>A	uc002vin.3	-	9	5305	c.4869C>T	c.(4867-4869)tgC>tgT	p.C1623C	ZNF142_uc002vil.3_Silent_p.C1584C|ZNF142_uc010fvt.3_Silent_p.C1460C|ZNF142_uc002vim.3_Silent_p.C1460C	NM_001105537	NP_001099007	P52746	ZN142_HUMAN	Homo sapiens zinc finger protein 142 (ZNF142), mRNA.	1623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGCAGAGGCGGCAAAAGAAGG	0.607													A	219503257	G	A	219503257	2	1	214	1	0	0	0	0	0	0	0	1	17832	1195	42	2		2	ZNF142	2	219503257	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	99117972	219503257	23696116	13	14698											
SCN11A	11280	broad.mit.edu	37	chr3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgactatgtcgaacaCgagaccttgacatttgttct	9	14	9	9	2	1	3	0	2	1	1	2	5	1	3	1	0	1	2	1	0	2	5			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:38892224C>T	uc021wvy.1	-	24	4274	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_uc003cis.1_Missense_Mutation_p.V24M	NM_014139	NP_054858	Q9UI33	SCNBA_HUMAN	Homo sapiens sodium channel, voltage-gated, type XI, alpha subunit (SCN11A), mRNA.	1359					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCGAACACGAGACCTTGA	0.308													T	38892224	C	T	38892224	3	4	214	1	0	0	0	0	1	0	0	0	14006	536	19	1	1308	1	SCN11A	3	38892224	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		38892224	159130206	14	14699											
GPR128	84873	broad.mit.edu	37	chr3	100349573	100349573	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttgtgaaaatagtacctAtatgggttttacttttgcca	10	19	7	5	0	0	1	0	1	0	0	0	1	0	1	2	1	3	2	2	1	7	10			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:100349573A>G	uc003duc.3	+	2	522	c.254A>G	c.(253-255)tAt>tGt	p.Y85C		NM_032787	NP_116176	Q96K78	GP128_HUMAN	Homo sapiens G protein-coupled receptor 128 (GPR128), mRNA.	85					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAGTACCTATATGGGTTTT	0.323													G	100349573	A	G	100349573	3	3	214	1	0	0	0	0	1	0	0	0	6695	449	16	3	264	3	GPR128	3	100349573	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	61457349	100349573	97672857	15	14700											
EPHB1	2047	broad.mit.edu	37	chr3	134898744	134898744	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgaccccttcacttacgAggatcccaacgaagctgtcc	10	9	7	15	2	1	1	1	1	0	0	3	4	3	2	4	1	3	1	4	1	3	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr3:134898744A>G	uc003eqt.3	+	9	2177	c.1802A>G	c.(1801-1803)gAg>gGg	p.E601G	EPHB1_uc003equ.3_Missense_Mutation_p.E162G	NM_004441	NP_004432	P54762	EPHB1_HUMAN	Homo sapiens EPH receptor B1 (EPHB1), mRNA.	601						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						TTCACTTACGAGGATCCCAAC	0.483													G	134898744	A	G	134898744	3	3	214	1	0	0	0	0	1	0	0	0	5215	304	11	3	1840	3	EPHB1	3	134898744	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	34549171	134898744	63123686	16	14701											
CORIN	10699	broad.mit.edu	37	chr4	47679958	47679958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggacacacttactgaCgctgcagttctcctcatcac	8	11	9	13	1	3	1	2	1	1	0	4	2	3	2	1	2	2	3	1	2	1	2	rs149563697	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:47679958C>T	uc003gxm.3	-	8	1339	c.1246G>A	c.(1246-1248)Gtc>Atc	p.V416I	CORIN_uc011bzf.2_Missense_Mutation_p.V277I|CORIN_uc011bzg.2_Missense_Mutation_p.V349I|CORIN_uc011bzh.1_Missense_Mutation_p.V379I|CORIN_uc011bzi.1_Missense_Mutation_p.V379I	NM_006587	NP_006578	Q9Y5Q5	CORIN_HUMAN	Homo sapiens corin, serine peptidase (CORIN), mRNA.	416					peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACTTACTGACGCTGCAGTTC	0.493													T	47679958	C	T	47679958	3	4	214	1	0	0	0	0	1	0	0	0	3783	536	19	1	1938	1	CORIN	4	47679958	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		47679958	143474318	17	14702											
UGT2B15	7366	broad.mit.edu	37	chr4	69536075	69536075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaattttcagaagagaatCttccaaataatttttagtta	16	15	6	4	0	2	3	1	0	1	3	3	5	3	3	1	0	0	1	1	0	7	8			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:69536075C>A	uc021xow.1	-	0	420	c.262G>T	c.(262-264)Gat>Tat	p.D88Y		NM_001076	NP_001067	P54855	UDB15_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B15 (UGT2B15), mRNA.	88					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										AGAAGAGAATCTTCCAAATAA	0.294													A	69536075	C	A	69536075	3	1	214	1	0	0	0	0	1	0	0	0	17060	913	32	4	2971	4	UGT2B15	4	69536075	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	21856117	69536075	121618201	18	14703											
WDFY3	23001	broad.mit.edu	37	chr4	85611704	85611704	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttctttggaggtgcccatCtcccacacacacacaaccgt	9	11	6	15	1	2	0	0	0	2	0	3	1	2	1	3	2	2	0	3	2	1	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:85611704C>G	uc003hpd.3	-	60	9726	c.9318G>C	c.(9316-9318)gaG>gaC	p.E3106D		NM_014991	NP_055806	Q8IZQ1	WDFY3_HUMAN	Homo sapiens WD repeat and FYVE domain containing 3 (WDFY3), mRNA.	3106						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AGGTGCCCATCTCCCACACAC	0.517													G	85611704	C	G	85611704	3	3	214	1	0	0	0	0	1	0	0	0	17372	912	32	4	1294	4	WDFY3	4	85611704	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	16075629	85611704	105542572	19	14704											
FSTL5	56884	broad.mit.edu	37	chr4	162577555	162577555	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgggaggtctcagggttccTtgaatggcacagctcagaac	10	9	13	9	0	2	2	2	1	1	1	4	3	3	3	1	4	2	3	1	4	2	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr4:162577555T>C	uc003iqh.3	-	6	1255	c.819A>G	c.(817-819)caA>caG	p.Q273Q	FSTL5_uc003iqi.3_Silent_p.Q272Q|FSTL5_uc010iqv.3_Silent_p.Q272Q	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	273	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGGGTTCCTTGAATGGCAC	0.388													C	162577555	T	C	162577555	2	2	214	1	0	0	0	0	0	0	0	1	6132	1606	56	3		3	FSTL5	4	162577555	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	76965851	162577555	28576721	20	14705											
CDH9	1007	broad.mit.edu	37	chr5	26988213	26988213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatacaaaaattcttacCttgcctacatattgtgtgtc	11	16	4	10	0	2	0	1	0	2	0	4	0	2	0	2	0	4	0	2	0	6	7			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:26988213C>G	uc003jgs.1	-	2	397	c.228_splice	c.e2+1	p.K76_splice	CDH9_uc010iug.3_Splice_Site_p.K76_splice	NM_016279	NP_057363	Q9ULB4	CADH9_HUMAN	Homo sapiens cadherin 9, type 2 (T1-cadherin) (CDH9), mRNA.	76	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AAATTCTTACCTTGCCTACAT	0.348													G	26988213	C	G	26988213	3	3	214	1	0	0	0	0	1	0	0	0	3147	695	24	4	2185	4	CDH9	5	26988213	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		26988213	153927047	21	14706											
C5orf48	389320	broad.mit.edu	37	chr5	125971812	125971812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgccatggggaagatcGtaaagttgtcttccaaaaag	12	11	11	7	1	1	1	0	0	1	1	3	2	2	2	2	2	1	3	2	2	5	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:125971812G>A	uc003kub.1	+	2	297	c.284G>A	c.(283-285)cGt>cAt	p.R95H		NM_207408	NP_997291	Q6ZNM6	CE048_HUMAN	Homo sapiens chromosome 5 open reading frame 48 (C5orf48), mRNA.	95										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						GGGGAAGATCGTAAAGTTGTC	0.443													A	125971812	G	A	125971812	3	1	214	1	0	0	0	0	1	0	0	0	2328	1145	40	1	294	1	C5orf48	5	125971812	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	98983599	125971812	54943448	22	14707											
IK	3550	broad.mit.edu	37	chr5	140033536	140033536	+	Frame_Shift_Del	DEL	G	G	-																															tatacagggacaaatcagctGcagagaagagaagacagttg																										TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140033536delG	uc003lgq.3	+	5	528	c.418delG	c.(418-420)gcafs	p.A140fs	IK_uc011czk.1_Frame_Shift_Del_p.A140fs|IK_uc021yen.1_Frame_Shift_Del_p.A81fs	NM_006083	NP_006074	Q13123	RED_HUMAN	Homo sapiens IK cytokine, down-regulator of HLA II (IK), mRNA.	140					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAATCAGCTGCAGAGAAGAG	0.478													-	140033536	G	-	140033536	7	5	214	1	0	1	0	1	0	0	0	0	7666	1319	46	0	440	0	IK	5	140033536	Frame_Shift_Del	DEL	G	TCGA-28-5214-01A-01D-1486-08	14061724	140033536	40881724	23	14708											
PCDHGC5	56107	broad.mit.edu	37	chr5	140783915	140783915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctcccggaaaacaacGccagaggtacttccatcttc	11	9	6	15	2	2	1	0	0	2	1	5	2	4	2	4	2	4	1	4	2	5	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:140783915G>A	uc003lkh.2	+	0	1396	c.1396G>A	c.(1396-1398)Gcc>Acc	p.A466T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc003lkf.2_Intron|PCDHGC5_uc011dax.2_Missense_Mutation_p.A466T	NM_018921	NP_061744	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 9 (PCDHGA9), transcript variant 1, mRNA.	468	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAAACAACGCCAGAGGTAC	0.468													A	140783915	G	A	140783915	3	1	214	1	0	0	0	0	1	0	0	0	11647	1087	38	1		1	PCDHGC5	5	140783915	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	750379	140783915	40131345	24	14709											
GRIA1	2890	broad.mit.edu	37	chr5	153149798	153149798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccatcagtttttgtgcGgaccacagaggaggggatga	11	8	15	7	1	1	3	1	1	0	2	1	6	1	6	2	4	2	1	2	4	0	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:153149798G>A	uc011dcy.2	+	12	2150	c.2123G>A	c.(2122-2124)cGg>cAg	p.R708Q	GRIA1_uc003lva.4_Missense_Mutation_p.R698Q|GRIA1_uc003luy.4_Missense_Mutation_p.R698Q|GRIA1_uc003luz.4_Missense_Mutation_p.R603Q|GRIA1_uc011dcv.2_Non-coding_Transcript|GRIA1_uc011dcw.2_Missense_Mutation_p.R618Q|GRIA1_uc011dcx.2_Missense_Mutation_p.R629Q|GRIA1_uc011dcz.2_Missense_Mutation_p.R708Q	NM_001114183	NP_001107655	P42261	GRIA1_HUMAN	Homo sapiens glutamate receptor, ionotropic, AMPA 1 (GRIA1), transcript variant 2, mRNA.	698					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GTTTTTGTGCGGACCACAGAG	0.468													A	153149798	G	A	153149798	3	1	214	1	0	0	0	0	1	0	0	0	6822	1116	39	1	2143	1	GRIA1	5	153149798	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	12365883	153149798	27765462	25	14710											
RNF130	55819	broad.mit.edu	37	chr5	179393829	179393829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttactgcaatgttgatttctCctgttctcggagtgagctcc	6	16	9	10	1	2	2	0	2	2	0	5	3	3	3	2	1	3	4	2	1	2	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr5:179393829C>T	uc003mll.1	-	6	1534	c.1127G>A	c.(1126-1128)gGa>gAa	p.G376E	RNF130_uc003mlm.1_Missense_Mutation_p.G376E	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	376					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGATTTCTCCTGTTCTCGG	0.587													T	179393829	C	T	179393829	3	4	214	1	0	0	0	0	1	0	0	0	13529	855	30	2	144	2	RNF130	5	179393829	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	26244031	179393829	1521431	26	14711											
HIVEP1	3096	broad.mit.edu	37	chr6	12123451	12123451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcatccagcacaccaactcCctgagcaggcccaactcatt	11	7	6	17	0	2	1	2	1	0	0	4	1	4	1	4	1	4	2	4	1	2	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:12123451C>T	uc003nac.3	+	3	3602	c.3423C>T	c.(3421-3423)tcC>tcT	p.S1141S	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	1141					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ACACCAACTCCCTGAGCAGGC	0.507													T	12123451	C	T	12123451	2	4	214	1	0	0	0	0	0	0	0	1	7241	610	22	2		2	HIVEP1	6	12123451	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		12123451	158991616	27	14712											
PGK2	5232	broad.mit.edu	37	chr6	49754388	49754388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccatggaactatgagcGcggtgtgcagtgccaaaagc	11	6	12	12	2	0	1	0	1	0	0	0	2	0	2	3	2	5	1	3	2	4	1	rs147140024	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr6:49754388G>A	uc003ozu.3	-	0	666	c.513C>T	c.(511-513)cgC>cgT	p.R171R		NM_138733	NP_620061	P07205	PGK2_HUMAN	Homo sapiens phosphoglycerate kinase 2 (PGK2), mRNA.	171					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					AACTATGAGCGCGGTGTGCAG	0.458													A	49754388	G	A	49754388	2	1	214	1	0	0	0	0	0	0	0	1	11868	1074	38	1		1	PGK2	6	49754388	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	37630937	49754388	121360679	28	14713											
INHBA	3624	broad.mit.edu	37	chr7	41729925	41729925	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagagagcaacagttcacTcctctccccctttaagccca	10	10	5	16	0	3	1	2	0	1	1	5	2	4	1	4	0	3	2	4	0	2	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:41729925T>A	uc003thq.3	-	1	839	c.604A>T	c.(604-606)Agt>Tgt	p.S202C	INHBA_uc003thr.3_Missense_Mutation_p.S202C	NM_002192	NP_002183	P08476	INHBA_HUMAN	Homo sapiens inhibin, beta A (INHBA), mRNA.	202					cell cycle arrest|cell surface receptor linked signaling pathway|defense response|erythrocyte differentiation|eyelid development in camera-type eye|G1/S transition of mitotic cell cycle|growth|hair follicle development|hemoglobin biosynthetic process|hemopoietic progenitor cell differentiation|induction of apoptosis|male gonad development|negative regulation of B cell differentiation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of follicle-stimulating hormone secretion|negative regulation of interferon-gamma biosynthetic process|negative regulation of macrophage differentiation|negative regulation of phosphorylation|nervous system development|odontogenesis|ovarian follicle development|palate development|positive regulation of erythrocyte differentiation|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation|positive regulation of transcription from RNA polymerase II promoter|progesterone secretion|regulation of activin receptor signaling pathway	activin A complex|inhibin A complex	cytokine activity|follistatin binding|growth factor activity|hormone activity|identical protein binding|signal transducer activity	p.R201S(1)		biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(15)|lung(26)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						AACAGTTCACTCCTCTCCCCC	0.582										TSP Lung(11;0.080)			A	41729925	T	A	41729925	3	1	214	1	0	0	0	0	1	0	0	0	7799	1551	54	5	680	5	INHBA	7	41729925	Missense_Mutation	SNP	T	TCGA-28-5214-01A-01D-1486-08		41729925	117408738	29	14714											
TMEM120A	83862	broad.mit.edu	37	chr7	75617603	75617603	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggatgctctcccggAtggtcagggtgcagtagtac	8	10	15	8	1	2	2	1	2	1	0	3	4	2	4	1	4	3	4	1	4	2	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:75617603A>C	uc003ued.3	-	6	631	c.527T>G	c.(526-528)aTc>aGc	p.I176S	TMEM120A_uc003ueb.1_5'Flank|TMEM120A_uc003uec.2_Missense_Mutation_p.I81S|TMEM120A_uc022agl.1_Missense_Mutation_p.I81S	NM_031925	NP_114131	Q9BXJ8	T120A_HUMAN	Homo sapiens transmembrane protein 120A (TMEM120A), mRNA.	177						integral to membrane											GCTCTCCCGGATGGTCAGGGT	0.652													C	75617603	A	C	75617603	3	2	214	1	0	0	0	0	1	0	0	0	16133	333	12	5	529	5	TMEM120A	7	75617603	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	33887678	75617603	83521060	30	14715											
SMURF1	57154	broad.mit.edu	37	chr7	98636012	98636012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacaggtggcattaccGgacgtattctttcttattct	7	14	8	12	3	3	0	0	0	3	0	3	2	3	1	3	3	1	2	3	3	3	6			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:98636012G>A	uc003upu.2	-	15	2106	c.1766_splice	c.e15+1	p.R589_splice	SMURF1_uc003upv.2_Splice_Site_p.R563_splice|SMURF1_uc003upt.3_Splice_Site_p.R563_splice	NM_020429	NP_065162	Q9HCE7	SMUF1_HUMAN	Homo sapiens SMAD specific E3 ubiquitin protein ligase 1 (SMURF1), transcript variant 1, mRNA.	589	HECT.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			TGGCATTACCGGACGTATTCT	0.577													A	98636012	G	A	98636012	3	1	214	1	0	0	0	0	1	0	0	0	14913	1130	39	1	528	1	SMURF1	7	98636012	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	23018409	98636012	60502651	31	14716											
PIK3CG	5294	broad.mit.edu	37	chr7	106509059	106509059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgagagtgtgttcacCgtgtccctgtgggactgcga	7	9	14	11	3	1	1	1	0	0	1	2	5	2	2	3	1	1	1	3	1	0	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:106509059C>T	uc003vdv.4	+	1	1138	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	PIK3CG_uc003vdu.3_Silent_p.T351T|PIK3CG_uc003vdw.3_Silent_p.T351T	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	351					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGTGTTCACCGTGTCCCTGT	0.572													T	106509059	C	T	106509059	2	4	214	1	0	0	0	0	0	0	0	1	11993	639	23	1		1	PIK3CG	7	106509059	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	7873047	106509059	52629604	32	14717											
PRSS1	5644	broad.mit.edu	37	chr7	142460295	142460295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagccgactacccagaCgagctgcagtgcctggatgc	9	6	11	15	2	1	1	1	0	0	1	1	4	1	2	3	1	6	2	3	1	1	1	rs146076691		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr7:142460295C>T	uc003wak.2	+	3	485	c.468C>T	c.(466-468)gaC>gaT	p.D156D	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc003wam.2_Silent_p.D96D	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	156	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			ACTACCCAGACGAGCTGCAGT	0.507													T	142460295	C	T	142460295	2	4	214	1	0	0	0	0	0	0	0	1	12699	535	19	1		1	PRSS1	7	142460295	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	35951236	142460295	16678368	33	14718											
TRAPPC9	83696	broad.mit.edu	37	chr8	141310662	141310662	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgttctgacccagcaagctTttcattttgtgtggccggag	7	13	11	10	2	2	1	1	1	1	0	2	2	2	2	2	2	2	3	2	2	1	5			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr8:141310662T>C	uc003yvh.2	-	10	1983	c.1968A>G	c.(1966-1968)aaA>aaG	p.K656K	TRAPPC9_uc003yvj.2_Silent_p.K558K|TRAPPC9_uc003yvi.1_Silent_p.K549K	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	558					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGCAAGCTTTTCATTTTGT	0.443													C	141310662	T	C	141310662	2	2	214	1	0	0	0	0	0	0	0	1	16566	1838	64	3		3	TRAPPC9	8	141310662	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08		141310662	5053360	34	14719											
LINGO2	158038	broad.mit.edu	37	chr9	27949565	27949565	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactgcagggtgggctgtcGctgcaagatccagagaaggc	11	6	15	9	1	0	2	0	0	0	2	2	3	1	2	1	3	3	4	1	3	3	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:27949565G>A	uc003zqv.1	-	6	1755	c.1105C>T	c.(1105-1107)Cga>Tga	p.R369*	LINGO2_uc010mjf.1_Nonsense_Mutation_p.R369*|LINGO2_uc003zqu.1_Nonsense_Mutation_p.R369*|LINGO2_uc022bfc.1_Nonsense_Mutation_p.R369*	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	369	LRRCT.					integral to membrane		p.R369Q(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GTGGGCTGTCGCTGCAAGATC	0.547													A	27949565	G	A	27949565	4	1	214	1	0	0	0	0	0	1	0	0	8876	1095	38	1	719	1	LINGO2	9	27949565	Nonsense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		27949565	113263866	35	14720											
KLF9	687	broad.mit.edu	37	chr9	73002796	73002796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtcactcctcatgaagcGcttctcacacagcggacagc	9	8	10	14	2	3	1	3	1	1	0	5	2	4	2	1	2	3	1	1	2	1	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:73002796G>A	uc004aht.3	-	1	1925	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001206	NP_001197	Q13886	KLF9_HUMAN	Homo sapiens Kruppel-like factor 9 (KLF9), mRNA.	211					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CTCATGAAGCGCTTCTCACAC	0.592													A	73002796	G	A	73002796	3	1	214	1	0	0	0	0	1	0	0	0	8411	1087	38	1	107	1	KLF9	9	73002796	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	45053231	73002796	68210635	36	14721											
EPB41L4B	54566	broad.mit.edu	37	chr9	112015778	112015778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggcttcctctcaaaggTgctggttcttcgtaacctgg	7	13	10	11	1	2	0	1	0	2	0	5	0	3	0	2	4	2	4	2	4	3	5			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr9:112015778T>C	uc004bdz.1	-	11	1517	c.1222A>G	c.(1222-1224)Acc>Gcc	p.T408A	EPB41L4B_uc004bea.3_Missense_Mutation_p.T408A	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	408						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTCTCAAAGGTGCTGGTTCTT	0.403													C	112015778	T	C	112015778	3	2	214	1	0	0	0	0	1	0	0	0	5197	1696	59	3	1692	3	EPB41L4B	9	112015778	Missense_Mutation	SNP	T	TCGA-28-5214-01A-01D-1486-08	39012982	112015778	29197653	37	14722											
MAP3K11	4296	broad.mit.edu	37	chr11	65367001	65367001	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgagcggggaagggggCggctcggtcgggcagggcgc	6	3	23	9	5	0	2	0	1	0	1	2	3	0	3	0	8	1	2	0	8	1	0	rs138509783		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr11:65367001C>A	uc001oew.3	-	8	2563	c.2070G>T	c.(2068-2070)ccG>ccT	p.P690P	MAP3K11_uc001oev.3_Silent_p.P106P|MAP3K11_uc010rol.2_Silent_p.P433P|MAP3K11_uc001oex.1_Silent_p.P197P	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	690	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGAAGGGGGCGGCTCGGTCG	0.736													A	65367001	C	A	65367001	2	1	214	1	0	0	0	0	0	0	0	1	9320	755	27	4		4	MAP3K11	11	65367001	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		65367001	69639515	38	14723											
ANKRD33	341405	broad.mit.edu	37	chr12	52284680	52284680	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacaaccagcctggccaGtcccttcgtcaccactgcct	7	8	7	19	1	1	0	1	0	0	0	3	0	2	0	7	1	4	0	7	1	1	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:52284680G>C	uc001rzd.3	+	4	1128	c.950G>C	c.(949-951)aGt>aCt	p.S317T	ANKRD33_uc001rzh.4_3'UTR|ANKRD33_uc001rzf.4_Missense_Mutation_p.S192T|ANKRD33_uc001rze.3_Missense_Mutation_p.S213T|ANKRD33_uc001rzg.4_Missense_Mutation_p.S119T|ANKRD33_uc001rzi.4_Missense_Mutation_p.S192T	NM_182608	NP_872414	Q7Z3H0	ANR33_HUMAN	Homo sapiens ankyrin repeat domain 33 (ANKRD33), transcript variant 2, mRNA.	192										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AGCCTGGCCAGTCCCTTCGTC	0.632													C	52284680	G	C	52284680	3	2	214	1	0	0	0	0	1	0	0	0	661	1029	36	4	998	4	ANKRD33	12	52284680	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		52284680	81567215	39	14724											
PAN2	9924	broad.mit.edu	37	chr12	56717611	56717611	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggctggtacttttcacAggtgtcacaccaggcctgtg	6	11	13	11	1	2	0	2	0	0	0	2	0	2	0	2	4	1	2	2	4	1	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:56717611A>T	uc001skx.3	-	13	2541	c.2164T>A	c.(2164-2166)Tgt>Agt	p.C722S	PAN2_uc001skw.3_5'UTR|PAN2_uc001sky.3_Missense_Mutation_p.C718S|PAN2_uc001skz.3_Missense_Mutation_p.C721S	NM_001127460	NP_001120932	Q504Q3	PAN2_HUMAN	Homo sapiens PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN2), transcript variant 1, mRNA.	722					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TACTTTTCACAGGTGTCACAC	0.522													T	56717611	A	T	56717611	3	4	214	1	0	0	0	0	1	0	0	0	11490	188	7	5	1496	5	PAN2	12	56717611	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	4432931	56717611	77134284	40	14725											
FGD6	55785	broad.mit.edu	37	chr12	95603097	95603097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctgtggtggtgtctcCgagttggctactcttggacc	3	13	15	10	1	2	0	0	0	2	0	3	2	2	1	3	5	1	2	3	5	1	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr12:95603097C>T	uc001tdp.4	-	1	2187	c.1963G>A	c.(1963-1965)Gga>Aga	p.G655R	FGD6_uc009zsx.3_Intron	NM_018351	NP_060821	Q6ZV73	FGD6_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 6 (FGD6), mRNA.	655					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GTGGTGTCTCCGAGTTGGCTA	0.443													T	95603097	C	T	95603097	3	4	214	1	0	0	0	0	1	0	0	0	5886	661	23	1	2409	1	FGD6	12	95603097	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	38885486	95603097	38248798	41	14726											
MIPEP	4285	broad.mit.edu	37	chr13	24330744	24330744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcatctccctgcgatagcGctccccggcagccctgggga	6	6	12	17	3	1	0	0	0	1	0	3	2	2	1	4	3	4	3	4	3	1	1	rs148780512	byFrequency	TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr13:24330744G>A	uc001uox.4	-	17	2112	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C		NM_005932	NP_005923	Q99797	MIPEP_HUMAN	Homo sapiens mitochondrial intermediate peptidase (MIPEP), nuclear gene encoding mitochondrial protein, mRNA.	662					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity	p.R662H(1)		breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		CTGCGATAGCGCTCCCCGGCA	0.517													A	24330744	G	A	24330744	3	1	214	1	0	0	0	0	1	0	0	0	9667	1087	38	1	165	1	MIPEP	13	24330744	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08		24330744	90839134	42	14727											
FMN1	342184	broad.mit.edu	37	chr15	33359642	33359642	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccatcatcagagtcAgaatcactggtggtgtgcac	10	9	11	11	0	4	2	4	0	0	2	4	2	4	2	2	3	1	1	2	3	1	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:33359642A>G	uc001zhf.4	-	0	444	c.444T>C	c.(442-444)tcT>tcC	p.S148S	FMN1_uc001zhg.2_Silent_p.S148S	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		CATCAGAGTCAGAATCACTGG	0.522													G	33359642	A	G	33359642	2	3	214	1	0	0	0	0	0	0	0	1	5998	175	7	3		3	FMN1	15	33359642	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08		33359642	69171750	43	14728											
SPATA5L1	79029	broad.mit.edu	37	chr15	45709546	45709546	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttagatactgctttgttAcgacctggaagattagataa	12	14	10	5	1	0	3	0	0	0	3	0	5	0	4	1	1	3	3	1	1	6	6			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:45709546A>G	uc001zve.3	+	5	2026	c.1917A>G	c.(1915-1917)ttA>ttG	p.L639L	SPATA5L1_uc001zvf.3_Non-coding_Transcript	NM_024063	NP_076968	Q9BVQ7	SPA5L_HUMAN	Homo sapiens spermatogenesis associated 5-like 1 (SPATA5L1), transcript variant 1, mRNA.	639						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CTGCTTTGTTACGACCTGGAA	0.393													G	45709546	A	G	45709546	2	3	214	1	0	0	0	0	0	0	0	1	15108	388	14	3		3	SPATA5L1	15	45709546	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08	12349904	45709546	56821846	44	14729											
VPS13C	54832	broad.mit.edu	37	chr15	62182532	62182532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaagcaaaactctctggCgcccatccagaaatgatacc	15	7	7	12	1	1	3	0	2	1	1	3	3	2	3	3	1	3	1	3	1	6	1	rs150364963		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:62182532C>T	uc002agz.3	-	66	9264	c.9173G>A	c.(9172-9174)cGc>cAc	p.R3058H	VPS13C_uc002aha.3_Missense_Mutation_p.R3015H|VPS13C_uc002ahb.2_Missense_Mutation_p.R3058H|VPS13C_uc002ahc.2_Missense_Mutation_p.R3015H	NM_020821	NP_065872	Q709C8	VP13C_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog C (S. cerevisiae) (VPS13C), transcript variant 2A, mRNA.	3058					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AACTCTCTGGCGCCCATCCAG	0.443													T	62182532	C	T	62182532	3	4	214	1	0	0	0	0	1	0	0	0	17293	768	27	1	2192	1	VPS13C	15	62182532	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	16472986	62182532	40348860	45	14730											
NR2F2	7026	broad.mit.edu	37	chr15	96877739	96877739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgcctttatggaccacataCggatcttccaagagcaagtg	11	10	9	11	2	1	1	0	0	1	1	3	3	2	3	3	2	2	1	3	2	4	4			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr15:96877739C>T	uc010uri.2	+	1	2101	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	NR2F2_uc002btp.3_Missense_Mutation_p.R160W|NR2F2_uc010urj.2_Missense_Mutation_p.R140W|NR2F2_uc010urk.2_Missense_Mutation_p.R140W	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	293	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GGACCACATACGGATCTTCCA	0.627													T	96877739	C	T	96877739	3	4	214	1	0	0	0	0	1	0	0	0	10704	527	19	1	930	1	NR2F2	15	96877739	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	34695207	96877739	5653653	46	14731											
FOXN1	8456	broad.mit.edu	37	chr17	26864328	26864328	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggtggctccggggcActgggtgacctgcacctcac	5	7	16	13	1	1	1	1	1	0	0	2	1	2	1	3	6	1	4	3	6	0	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:26864328A>C	uc010crm.3	+	8	2019	c.1821A>C	c.(1819-1821)gcA>gcC	p.A607A	FOXN1_uc002hbj.3_Silent_p.A607A	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	607					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GCTCCGGGGCACTGGGTGACC	0.687													C	26864328	A	C	26864328	2	2	214	1	0	0	0	0	0	0	0	1	6070	146	6	5		5	FOXN1	17	26864328	Silent	SNP	A	TCGA-28-5214-01A-01D-1486-08		26864328	54330882	47	14732											
GJC1	10052	broad.mit.edu	37	chr17	42882434	42882434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcccaaaccctaaatgaAgcatctcccaaatgttaagc	14	9	6	12	0	1	1	0	1	1	0	3	1	2	1	3	1	3	2	3	1	6	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr17:42882434A>G	uc002ihj.3	-	1	1263	c.752T>C	c.(751-753)cTt>cCt	p.L251P	GJC1_uc002ihk.3_Missense_Mutation_p.L251P|GJC1_uc002ihl.3_Missense_Mutation_p.L251P|GJC1_uc021tyf.1_Missense_Mutation_p.L251P	NM_005497	NP_005488	P36383	CXG1_HUMAN	Homo sapiens gap junction protein, gamma 1, 45kDa (GJC1), transcript variant 1, mRNA.	251					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				CCCTAAATGAAGCATCTCCCA	0.413													G	42882434	A	G	42882434	3	3	214	1	0	0	0	0	1	0	0	0	6470	72	3	3	442	3	GJC1	17	42882434	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	16018106	42882434	38312776	48	14733											
MC4R	4160	broad.mit.edu	37	chr18	58039563	58039563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagaagtgtgcatcccaCggtgggtggagttcaccatg	9	8	15	9	1	1	1	1	0	0	1	2	3	2	2	2	3	1	3	2	3	1	1	rs142837166		TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr18:58039563C>T	uc002lie.1	-	0	439	c.20G>A	c.(19-21)cGt>cAt	p.R7H		NM_005912	NP_005903	P32245	MC4R_HUMAN	Homo sapiens melanocortin 4 receptor (MC4R), mRNA.	7					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GTGCATCCCACGGTGGGTGGA	0.537													T	58039563	C	T	58039563	3	4	214	1	0	0	0	0	1	0	0	0	9441	536	19	1	982	1	MC4R	18	58039563	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		58039563	20037685	49	14734											
HDGFRP2	84717	broad.mit.edu	37	chr19	4475292	4475292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgacgacatcgcggatggCgccgtgaagcccccacccaa	10	4	11	16	6	0	1	0	1	0	0	2	4	0	2	4	2	1	0	4	2	2	0			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:4475292C>T	uc002mao.3	+	1	186	c.93C>T	c.(91-93)ggC>ggT	p.G31G	HDGFRP2_uc002map.3_Silent_p.G31G|HDGFRP2_uc010dtz.1_5'Flank	NM_001001520	NP_001001520	Q7Z4V5	HDGR2_HUMAN	Homo sapiens hepatoma-derived growth factor-related protein 2 (HDGFRP2), transcript variant 1, mRNA.	31	PWWP.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										TCGCGGATGGCGCCGTGAAGC	0.562													T	4475292	C	T	4475292	2	4	214	1	0	0	0	0	0	0	0	1	7075	755	27	1		1	HDGFRP2	19	4475292	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		4475292	54653691	50	14735											
ZNF709	163050	broad.mit.edu	37	chr19	12638084	12638084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactgtttacattcatgggGtttctctccagtatgagttc	8	16	8	9	0	2	1	1	1	1	0	5	1	3	1	1	2	1	4	1	2	2	6			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:12638084G>A	uc002mty.3	-	3	1048	c.838C>T	c.(838-840)Ccc>Tcc	p.P280S	ZNF709_uc002mtx.4_Intron	NM_144976	NP_659413	Q8N972	ZN709_HUMAN	Homo sapiens zinc finger protein 564 (ZNF564), mRNA.	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|upper_aerodigestive_tract(3)	6						CATTCATGGGGTTTCTCTCCA	0.403													A	12638084	G	A	12638084	3	1	214	1	0	0	0	0	1	0	0	0	18214	1261	44	2		2	ZNF709	19	12638084	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	8162792	12638084	46490899	51	14736											
PSG9	5678	broad.mit.edu	37	chr19	43762524	43762524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatactctgccggtgggttaGattccgtgaagcaggacaag	11	9	13	8	2	1	2	0	1	1	1	2	3	2	3	2	3	3	2	2	3	5	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:43762524G>C	uc002owd.4	-	4	1172	c.1073C>G	c.(1072-1074)tCt>tGt	p.S358C	PSG9_uc002owe.4_Missense_Mutation_p.S265C|PSG9_uc010xwm.2_Missense_Mutation_p.S265C|PSG9_uc002owf.4_Missense_Mutation_p.S172C|PSG9_uc002owg.2_Missense_Mutation_p.S265C	NM_002784	NP_002775	Q00887	PSG9_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 9 (PSG9), mRNA.	358	Ig-like C2-type 3.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CGGTGGGTTAGATTCCGTGAA	0.448													C	43762524	G	C	43762524	3	2	214	1	0	0	0	0	1	0	0	0	12747	942	33	4	215	4	PSG9	19	43762524	Missense_Mutation	SNP	G	TCGA-28-5214-01A-01D-1486-08	31124440	43762524	15366459	52	14737											
SYNGR4	23546	broad.mit.edu	37	chr19	48878966	48878966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctggggagcagcagtgCccaggcagccatcgccttca	7	6	12	16	1	1	0	1	0	0	0	3	1	2	1	5	3	4	3	5	3	0	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:48878966C>T	uc002piz.3	+	3	679	c.428C>T	c.(427-429)gCc>gTc	p.A143V		NM_012451	NP_036583	O95473	SNG4_HUMAN	Homo sapiens synaptogyrin 4 (SYNGR4), mRNA.	143	MARVEL.					integral to membrane				breast(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_epithelial(76;5.08e-07)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|Prostate(7;0.0143)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000138)|all cancers(93;0.00017)|Epithelial(262;0.0138)|GBM - Glioblastoma multiforme(486;0.0146)		AGCAGCAGTGCCCAGGCAGCC	0.612													T	48878966	C	T	48878966	3	4	214	1	0	0	0	0	1	0	0	0	15548	739	26	2	438	2	SYNGR4	19	48878966	Missense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08	5116442	48878966	10250017	53	14738											
LILRA1	11024	broad.mit.edu	37	chr19	55106242	55106242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccaggagtaccgtctgtaTagagaaaagaaaacagcacc	17	5	9	10	1	1	2	0	0	1	2	1	4	1	3	3	1	3	3	3	1	7	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr19:55106242T>C	uc002qgh.1	+	3	365	c.183T>C	c.(181-183)taT>taC	p.Y61Y	LILRA1_uc010yfg.1_Intron|LILRA1_uc010yfh.2_Silent_p.Y61Y	NM_006863	NP_006854	O75019	LIRA1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1 (LILRA1), mRNA.	61	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity	p.L60L(3)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		ACCGTCTGTATAGAGAAAAGA	0.577													C	55106242	T	C	55106242	2	2	214	1	0	0	0	0	0	0	0	1	8844	1413	49	3		3	LILRA1	19	55106242	Silent	SNP	T	TCGA-28-5214-01A-01D-1486-08	6227276	55106242	4022741	54	14739											
ISM1	140862	broad.mit.edu	37	chr20	13279761	13279761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacttccgctggaaggaCgccagcgggcccaaggagaa	12	3	15	11	3	0	1	0	0	0	1	1	5	1	4	3	5	1	1	3	5	4	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:13279761C>T	uc010gce.1	+	5	1056	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	TASP1_uc010zri.1_Intron	NM_080826	NP_543016	B1AKI9	ISM1_HUMAN	Homo sapiens isthmin 1 homolog (zebrafish) (ISM1), mRNA.	350	AMOP.					extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GCTGGAAGGACGCCAGCGGGC	0.647													T	13279761	C	T	13279761	2	4	214	1	0	0	0	0	0	0	0	1	7918	535	19	1		1	ISM1	20	13279761	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08		13279761	49745759	55	14740											
ZBTB46	140685	broad.mit.edu	37	chr20	62421878	62421878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaagccctgggccgtgAcgatgtccaggtgcgtgacc	6	8	14	13	3	0	3	0	3	0	0	1	4	1	3	5	2	2	0	5	2	1	1			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chr20:62421878A>C	uc002ygv.2	-	1	434	c.233T>G	c.(232-234)gTc>gGc	p.V78G	ZBTB46_uc002ygu.3_Non-coding_Transcript	NM_025224	NP_079500	Q86UZ6	ZBT46_HUMAN	Homo sapiens zinc finger and BTB domain containing 46 (ZBTB46), mRNA.	78	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGGGCCGTGACGATGTCCAG	0.612													C	62421878	A	C	62421878	3	2	214	1	0	0	0	0	1	0	0	0	17648	275	10	5	1552	5	ZBTB46	20	62421878	Missense_Mutation	SNP	A	TCGA-28-5214-01A-01D-1486-08	49142117	62421878	603642	56	14741											
CDX4	1046	broad.mit.edu	37	chrX	72667327	72667327	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccctacagtcccccgCgagaagactggagcgtgtat	9	7	11	14	3	1	2	1	0	0	2	2	4	2	3	3	1	2	2	3	1	3	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:72667327C>T	uc011mqk.2	+	0	238	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_005193	NP_005184	O14627	CDX4_HUMAN	Homo sapiens caudal type homeobox 4 (CDX4), mRNA.	80						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P79L(1)		endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CAGTCCCCCGCGAGAAGACTG	0.607													T	72667327	C	T	72667327	4	4	214	1	0	0	0	0	0	1	0	0	3214	760	27	1	240	1	CDX4	23	72667327	Nonsense_Mutation	SNP	C	TCGA-28-5214-01A-01D-1486-08		72667327	82603233	57	14742											
ATRX	546	broad.mit.edu	37	chrX	76918965	76918965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcactcacagtcaatttgtgCcgcaaaagcctatgtctgta	11	12	7	11	1	4	0	3	0	1	0	4	0	4	0	2	0	2	2	2	0	5	3			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:76918965C>T	uc004ecp.4	-	11	4258	c.4026G>A	c.(4024-4026)cgG>cgA	p.R1342R	ATRX_uc004ecq.4_Silent_p.R1304R|ATRX_uc004eco.4_Silent_p.R1127R|ATRX_uc004ecr.2_Silent_p.R1274R	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1342					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.R1342W(1)|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)	TCAATTTGTGCCGCAAAAGCC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76918965	C	T	76918965	2	4	214	1	0	0	0	0	0	0	0	1	1213	726	26	2		2	ATRX	23	76918965	Silent	SNP	C	TCGA-28-5214-01A-01D-1486-08	4251638	76918965	78351595	58	14743											
MAGEA8	4107	broad.mit.edu	37	chrX	149013838	149013838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggagtaccgccaggcGcccggcagtgatcctgtgcg	6	7	14	14	4	0	1	0	1	0	0	1	2	1	2	5	3	3	2	5	3	2	2			TCGA-28-5214-01A-01D-1486-08	TCGA-28-5214-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c992e603-30c9-4e30-a425-8050189db4f8	c194cf39-9d59-4afe-9750-fe124ae94c68	g.chrX:149013838G>A	uc022cgq.1	+	0	792	c.792G>A	c.(790-792)gcG>gcA	p.A264A	MAGEA8_uc022cgo.1_Silent_p.A264A|MAGEA8_uc004fdw.2_Silent_p.A264A|MAGEA8_uc022cgp.1_Silent_p.A264A	NM_005364	NP_005355	P43361	MAGA8_HUMAN	Homo sapiens melanoma antigen family A, 8 (MAGEA8), transcript variant 3, mRNA.	264	MAGE.							p.A264A(2)		NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					ACCGCCAGGCGCCCGGCAGTG	0.582													A	149013838	G	A	149013838	2	1	214	1	0	0	0	0	0	0	0	1	9244	1074	38	1		1	MAGEA8	23	149013838	Silent	SNP	G	TCGA-28-5214-01A-01D-1486-08	72094873	149013838	6256722	59	14744											
UBR4	23352	broad.mit.edu	37	chr1	19451182	19451182	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacacatcagcagcatgAccctgggagaagaaaatttg	16	7	9	9	0	2	3	2	1	0	2	2	4	2	3	1	1	3	2	1	1	4	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:19451182A>G	uc001bbi.3	-	64	9445	c.9441T>C	c.(9439-9441)ggT>ggC	p.G3147G	UBR4_uc001bbk.1_Silent_p.G794G	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	3147					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCAGCATGACCCTGGGAGA	0.413													G	19451182	A	G	19451182	2	3	215	1	0	0	0	0	0	0	0	1	17006	262	10	3		3	UBR4	1	19451182	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08		19451182	229799439	1	14745											
SFN	2810	broad.mit.edu	37	chr1	27190037	27190037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacctcatcaaggaggccGgggacgccgagagccgggtc	8	3	16	14	4	2	1	2	0	0	1	3	4	2	3	5	5	1	0	5	5	1	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:27190037G>T	uc010ofi.1	-	0		c.413C>A			BC016143_uc021ojq.1_Intron|SFN_uc001bnc.1_Missense_Mutation_p.G112W			P31947	1433S_HUMAN	Synthetic construct Homo sapiens gateway clone IMAGE:100016887 3' read SFN mRNA.						DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		CAAGGAGGCCGGGGACGCCGA	0.637													T	27190037	G	T	27190037	3	4	215	1	0	0	0	0	1	0	0	0	14252	1116	39	4	336	4	SFN	1	27190037	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	7738855	27190037	222060584	2	14746											
BCAR3	8412	broad.mit.edu	37	chr1	94032964	94032964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacatgtcggttccttcaAaagtcacagcctggcgctcc	8	9	8	16	2	2	0	2	0	0	0	5	0	4	0	4	2	1	2	4	2	2	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:94032964A>G	uc001dpz.3	-	10	2446	c.2171T>C	c.(2170-2172)tTt>tCt	p.F724S	BCAR3_uc001dqa.3_Missense_Mutation_p.F724S|BCAR3_uc001dqb.3_Missense_Mutation_p.F724S|BCAR3_uc001dpx.4_Missense_Mutation_p.F400S|BCAR3_uc001dpy.3_Missense_Mutation_p.F633S	NM_003567	NP_003558	O75815	BCAR3_HUMAN	Homo sapiens breast cancer anti-estrogen resistance 3 (BCAR3), mRNA.	724	Ras-GEF.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		GGTTCCTTCAAAAGTCACAGC	0.502													G	94032964	A	G	94032964	3	3	215	1	0	0	0	0	1	0	0	0	1354	14	1	3	314	3	BCAR3	1	94032964	Missense_Mutation	SNP	A	TCGA-28-5215-01A-01D-1486-08	66842927	94032964	155217657	3	14747											
IRF6	3664	broad.mit.edu	37	chr1	209961847	209961847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgggtttgaaggatgCggtacagctgcttcagctga	7	12	13	9	1	2	2	1	2	1	0	3	3	2	3	1	3	5	5	1	3	2	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr1:209961847C>T	uc001hhq.2	-	8	1626	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	IRF6_uc010psm.2_Missense_Mutation_p.R346H	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	441					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TTGAAGGATGCGGTACAGCTG	0.557										HNSCC(57;0.16)			T	209961847	C	T	209961847	3	4	215	1	0	0	0	0	1	0	0	0	7892	768	27	1	85	1	IRF6	1	209961847	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	115928883	209961847	39288774	4	14748											
ST6GAL2	84620	broad.mit.edu	37	chr2	107459661	107459661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtccgcacgcgcgcgCggctccgcagctggcacagc	5	3	14	19	8	0	0	0	0	0	0	2	0	2	0	3	2	3	5	3	2	0	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:107459661C>T	uc002tdq.3	-	1	892	c.773G>A	c.(772-774)cGc>cAc	p.R258H	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R258H|ST6GAL2_uc002tds.3_Missense_Mutation_p.R258H	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	258					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CACGCGCGCGCGGCTCCGCAG	0.736													T	107459661	C	T	107459661	3	4	215	1	0	0	0	0	1	0	0	0	15318	768	27	1	923	1	ST6GAL2	2	107459661	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		107459661	135739712	5	14749											
PSD4	23550	broad.mit.edu	37	chr2	113950118	113950118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcctcacgcctctatcGcctggagggcttccggaagt	5	10	12	14	3	2	0	1	0	1	0	4	2	3	2	4	4	0	1	4	4	2	3	rs140435814	byFrequency	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:113950118G>A	uc002tjc.3	+	5	1973	c.1790G>A	c.(1789-1791)cGc>cAc	p.R597H	PSD4_uc002tjd.3_Missense_Mutation_p.R218H|PSD4_uc002tje.3_Missense_Mutation_p.R568H|PSD4_uc002tjf.3_Missense_Mutation_p.R218H	NM_012455	NP_036587	Q8NDX1	PSD4_HUMAN	Homo sapiens pleckstrin and Sec7 domain containing 4 (PSD4), mRNA.	597	SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCTCTATCGCCTGGAGGGC	0.597													A	113950118	G	A	113950118	3	1	215	1	0	0	0	0	1	0	0	0	12734	1087	38	1	1808	1	PSD4	2	113950118	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	6490457	113950118	129249255	6	14750											
INPP5D	3635	broad.mit.edu	37	chr2	234112804	234112804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaacgcaggggacaCgctgcctcaggaggacctgc	10	3	17	11	2	1	1	1	0	0	1	1	5	1	5	2	6	3	2	2	6	2	0	rs142742228	by1000genomes	TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr2:234112804C>T	uc010zmo.2	+	24	3074	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M	INPP5D_uc010zmp.2_Missense_Mutation_p.T973M	NM_001017915	NP_001017915	Q92835	SHIP1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 145kDa (INPP5D), transcript variant 1, mRNA.	1003	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCAGGGGACACGCTGCCTCAG	0.602													T	234112804	C	T	234112804	3	4	215	1	0	0	0	0	1	0	0	0	7814	536	19	1	2618	1	INPP5D	2	234112804	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	120162686	234112804	9086569	7	14751											
TRIM71	131405	broad.mit.edu	37	chr3	32933302	32933302	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcgaatcctcgtcttctAattgcatttcctaggtttct	8	17	5	11	2	3	0	0	0	3	0	7	1	5	0	2	1	1	2	2	1	4	6			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:32933302A>G	uc003cff.3	+	3	2669	c.2606A>G	c.(2605-2607)tAa>tGa	p.*869*		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	0					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CTCGTCTTCTAATTGCATTTC	0.488													G	32933302	A	G	32933302	2	3	215	1	0	0	0	0	0	0	0	1	16645	369	13	3		3	TRIM71	3	32933302	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08		32933302	165089128	8	14752											
SI	6476	broad.mit.edu	37	chr3	164733001	164733001	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtaagtctttgtttcAtttcctgaaattgctggatc	8	16	10	7	0	2	1	1	1	1	0	4	2	3	2	1	2	1	4	1	2	2	5			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr3:164733001A>G	uc003fei.3	-	32	3972	c.3909T>C	c.(3907-3909)aaT>aaC	p.N1303N		NM_001041	NP_001032	P14410	SUIS_HUMAN	Homo sapiens sucrase-isomaltase (alpha-glucosidase) (SI), mRNA.	1303	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCTTTGTTTCATTTCCTGAAA	0.348										HNSCC(35;0.089)			G	164733001	A	G	164733001	2	3	215	1	0	0	0	0	0	0	0	1	14391	214	8	3		3	SI	3	164733001	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08	131799699	164733001	33289429	9	14753											
NDST4	64579	broad.mit.edu	37	chr4	115998231	115998231	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagctttttcccaatttcGtttcctaaagtgccatagtg	9	15	8	9	1	0	0	0	0	0	0	3	1	2	1	3	1	2	2	3	1	5	6			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:115998231G>A	uc003ibu.3	-	1					NDST4_uc010imw.3_Intron	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.							Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TCCCAATTTCGTTTCCTAAAG	0.338													A	115998231	G	A	115998231	1	1	215	1	0	0	0	0	0	0	0	0	10334	1160	40	1		1	NDST4	4	115998231	Translation_Start_Site	SNP	G	TCGA-28-5215-01A-01D-1486-08		115998231	75156045	10	14754											
TRIML2	205860	broad.mit.edu	37	chr4	189012730	189012730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcagtcaaggaaaacgcCaactgtgtccaacttctttt	11	12	7	11	2	2	0	1	0	1	0	4	1	3	1	2	1	3	1	2	1	5	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr4:189012730C>T	uc011cle.1	-	7	1408	c.1186G>A	c.(1186-1188)Ggc>Agc	p.G396S	TRIML2_uc003izj.1_Missense_Mutation_p.G149S|TRIML2_uc003izk.1_Missense_Mutation_p.G129S|TRIML2_uc003izl.2_Missense_Mutation_p.G321S	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	321							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		AGGAAAACGCCAACTGTGTCC	0.517													T	189012730	C	T	189012730	3	4	215	1	0	0	0	0	1	0	0	0	16652	594	21	2	206	2	TRIML2	4	189012730	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	73014499	189012730	2141546	11	14755											
ADAMTS6	11174	broad.mit.edu	37	chr5	64520167	64520167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatatagttctttgacatgGcaacttctctaacttcaatg	12	15	5	9	0	3	1	1	1	2	0	4	1	3	1	0	1	2	2	0	1	6	7	rs143194045		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:64520167G>A	uc003jtp.3	-	17	3066	c.2252C>T	c.(2251-2253)gCc>gTc	p.A751V	ADAMTS6_uc003jto.3_Non-coding_Transcript|ADAMTS6_uc003jtq.3_Non-coding_Transcript|ADAMTS6_uc003jtr.1_Missense_Mutation_p.A372V	NM_197941	NP_922932	Q9UKP5	ATS6_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 6 (ADAMTS6), mRNA.	751	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CTTTGACATGGCAACTTCTCT	0.408													A	64520167	G	A	64520167	3	1	215	1	0	0	0	0	1	0	0	0	270	1203	42	2	1133	2	ADAMTS6	5	64520167	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		64520167	116395093	12	14756											
PCDHAC2	56146	broad.mit.edu	37	chr5	140176553	140176553	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggccaccgtgttagtgtcGttggtggaaagtggccaggc	7	9	16	9	3	0	0	0	0	0	0	1	1	0	1	3	5	0	2	3	5	2	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr5:140176553G>A	uc003lhd.2	+	0	2110	c.2004G>A	c.(2002-2004)tcG>tcA	p.S668S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Silent_p.S668S|PCDHAC2_uc011czy.2_Silent_p.S668S	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	679	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S668S(2)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGTCGTTGGTGGAAA	0.652													A	140176553	G	A	140176553	2	1	215	1	0	0	0	0	0	0	0	1	11609	1132	40	1		1	PCDHAC2	5	140176553	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	75656386	140176553	40738707	13	14757											
TRIM26	7726	broad.mit.edu	37	chr6	30164404	30164404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacttctccctgccctcCgtgagctcctgctccagctt	4	13	7	17	1	1	2	0	2	1	0	5	2	4	2	5	0	5	3	5	0	1	3	rs137972961		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:30164404C>T	uc003npr.3	-	4	863	c.654G>A	c.(652-654)acG>acA	p.T218T	TRIM26_uc003nps.3_Silent_p.T218T|TRIM26_uc003npt.3_Silent_p.T218T|TRIM26_uc010jry.3_5'UTR	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	218							DNA binding|zinc ion binding			lung(1)|ovary(2)	3						CCCTGCCCTCCGTGAGCTCCT	0.642													T	30164404	C	T	30164404	2	4	215	1	0	0	0	0	0	0	0	1	16601	639	23	1		1	TRIM26	6	30164404	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		30164404	140950663	14	14758											
SIM1	6492	broad.mit.edu	37	chr6	100911318	100911318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctccctcctagtccgCgcagcatttttggacttttc	4	16	6	15	2	1	0	0	0	1	0	6	1	4	1	4	1	1	2	4	1	1	6			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:100911318C>T	uc003pqj.4	-	0	494	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_uc021zdg.1_Silent_p.A9A|SIM1_uc010kcu.3_Silent_p.A9A	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423													T	100911318	C	T	100911318	2	4	215	1	0	0	0	0	0	0	0	1	14417	755	27	1		1	SIM1	6	100911318	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08	70746914	100911318	70203749	15	14759											
FNDC1	84624	broad.mit.edu	37	chr6	159655381	159655381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcacccacccctggccGcagtacaccacgcgcgcccc	6	2	11	22	5	0	0	0	0	0	0	0	0	0	0	7	2	1	3	7	2	1	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr6:159655381G>A	uc010kjv.3	+	10	4037	c.3837G>A	c.(3835-3837)ccG>ccA	p.P1279P	FNDC1_uc010kjw.1_Silent_p.P1164P	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1279						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		ACCCCTGGCCGCAGTACACCA	0.701													A	159655381	G	A	159655381	2	1	215	1	0	0	0	0	0	0	0	1	6017	1074	38	1		1	FNDC1	6	159655381	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	58744063	159655381	11459686	16	14760											
CHN2	1124	broad.mit.edu	37	chr7	29438049	29438049	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaggcgtggagggtgcCtacatccttagagaaagcca	10	8	14	9	1	0	1	0	0	0	1	1	4	1	3	3	4	3	0	3	4	3	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:29438049C>T	uc003szz.3	+	4	674	c.237C>T	c.(235-237)gcC>gcT	p.A79A	CHN2_uc011jzs.2_Silent_p.A154A|CHN2_uc010kva.3_Intron|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.A44A|CHN2_uc011jzt.2_Silent_p.A92A|CHN2_uc010kvd.3_Intron|CHN2_uc011jzu.2_Silent_p.A64A	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	79	SH2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGGAGGGTGCCTACATCCTTA	0.522													T	29438049	C	T	29438049	2	4	215	1	0	0	0	0	0	0	0	1	3393	668	24	2		2	CHN2	7	29438049	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		29438049	129700614	17	14761											
ASB4	51666	broad.mit.edu	37	chr7	95115358	95115358	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatttccttgaggcgctAaagtccaatgacttcggaaa	14	10	9	8	2	0	3	0	2	0	1	3	4	2	4	2	2	0	1	2	2	5	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr7:95115358A>G	uc011kij.2	+	0	146	c.75A>G	c.(73-75)ctA>ctG	p.L25L	ASB4_uc003unx.3_Silent_p.L25L	NM_016116	NP_057200	Q9Y574	ASB4_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 4 (ASB4), transcript variant 1, mRNA.	25					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTGAGGCGCTAAAGTCCAATG	0.438													G	95115358	A	G	95115358	2	3	215	1	0	0	0	0	0	0	0	1	1030	349	13	3		3	ASB4	7	95115358	Silent	SNP	A	TCGA-28-5215-01A-01D-1486-08	65677309	95115358	64023305	18	14762											
ANK1	286	broad.mit.edu	37	chr8	41566469	41566469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctggttctgcttggcagCgatgtgcaaaggggtgtagc	7	10	15	9	1	1	0	0	0	1	0	1	1	1	0	1	4	4	5	1	4	2	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:41566469C>T	uc003xok.3	-	16	1909	c.1825G>A	c.(1825-1827)Gct>Act	p.A609T	NKX6-3_uc010lxa.1_Intron|ANK1_uc003xoh.3_5'Flank|ANK1_uc003xoi.3_Missense_Mutation_p.A609T|ANK1_uc003xoj.3_Missense_Mutation_p.A609T|ANK1_uc003xol.3_Missense_Mutation_p.A609T|ANK1_uc003xom.3_Missense_Mutation_p.A642T	NM_020476	NP_065209	P16157	ANK1_HUMAN	Homo sapiens ankyrin 1, erythrocytic (ANK1), transcript variant 1, mRNA.	609	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.A609T(2)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGCTTGGCAGCGATGTGCAAA	0.582													T	41566469	C	T	41566469	3	4	215	1	0	0	0	0	1	0	0	0	620	768	27	1	4278	1	ANK1	8	41566469	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		41566469	104797553	19	14763											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87162356	87162356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttgaggccgacagaCgtgcttttatcatcactctt	8	15	8	10	2	4	2	3	1	1	1	4	3	4	2	1	1	1	2	1	1	1	5			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr8:87162356C>T	uc003ydp.1	+	5	724	c.655C>T	c.(655-657)Cgt>Tgt	p.R219C		NM_152565	NP_689778	Q8N8Y2	VA0D2_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2 (ATP6V0D2), mRNA.	219					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGCCGACAGACGTGCTTTTAT	0.408													T	87162356	C	T	87162356	3	4	215	1	0	0	0	0	1	0	0	0	1179	536	19	1	677	1	ATP6V0D2	8	87162356	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	45595887	87162356	59201666	20	14764											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777555	18777555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcccaggagatcttcCgcagccacctggagcaccag	9	5	12	15	1	1	1	0	0	1	1	2	3	2	2	5	3	3	3	5	3	0	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr9:18777555C>T	uc003zne.4	+	18	3480	c.3328C>T	c.(3328-3330)Cgc>Tgc	p.R1110C		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	1110						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGATCTTCCGCAGCCACCT	0.647													T	18777555	C	T	18777555	3	4	215	1	0	0	0	0	1	0	0	0	274	652	23	1	3406	1	ADAMTSL1	9	18777555	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		18777555	122435876	21	14765											
CDH23	64072	broad.mit.edu	37	chr10	73375274	73375274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgcagggaataccaacagCatctttgccctggactacat	11	10	8	12	0	1	0	0	0	1	0	1	2	1	2	2	2	6	2	2	2	4	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:73375274C>G	uc001jrx.4	+	9	1236	c.846C>G	c.(844-846)agC>agG	p.S282R	CDH23_uc001jrw.4_Missense_Mutation_p.S282R|CDH23_uc001jry.3_Missense_Mutation_p.S282R|CDH23_uc001jrz.3_Missense_Mutation_p.S282R|CDH23_uc021psl.1_Missense_Mutation_p.S282R|CDH23_uc009xql.3_Missense_Mutation_p.S282R	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	282	Cadherin 3.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATACCAACAGCATCTTTGCCC	0.607													G	73375274	C	G	73375274	3	3	215	1	0	0	0	0	1	0	0	0	3138	709	25	4	880	4	CDH23	10	73375274	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		73375274	62159473	22	14766											
DHX32	55760	broad.mit.edu	37	chr10	127541113	127541113	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtccacagcactaccTgaagaagatgagccaagaat	14	9	9	9	0	0	5	0	2	0	3	1	5	1	5	3	0	3	1	3	0	5	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr10:127541113T>C	uc001ljf.1	-	5	1683	c.1192_splice	c.e5+1	p.G398_splice	BCCIP_uc001ljd.4_Intron|DHX32_uc001lje.1_Splice_Site_p.G22_splice|DHX32_uc001ljg.1_Splice_Site_p.G398_splice|DHX32_uc009yam.1_Splice_Site_p.G153_splice	NM_018180	NP_060650	Q7L7V1	DHX32_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 32 (DHX32), mRNA.	398						mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				CAGCACTACCTGAAGAAGATG	0.433													C	127541113	T	C	127541113	2	2	215	1	0	0	0	0	0	0	0	1	4544	1594	55	3		3	DHX32	10	127541113	Silent	SNP	T	TCGA-28-5215-01A-01D-1486-08	54165839	127541113	7993634	23	14767											
PNPLA2	57104	broad.mit.edu	37	chr11	824015	824015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccctgctggaggcctgcGtggagcccacggacctgctg	5	6	15	15	2	0	0	0	0	0	0	0	3	0	3	4	4	5	2	4	4	0	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:824015G>A	uc001lrt.3	+	7	1140	c.937G>A	c.(937-939)Gtg>Atg	p.V313M	PNPLA2_uc009ycl.3_Missense_Mutation_p.R124H|EFCAB4A_uc010qwt.1_5'Flank	NM_020376	NP_065109	Q96AD5	PLPL2_HUMAN	Homo sapiens patatin-like phospholipase domain containing 2 (PNPLA2), mRNA.	313					negative regulation of sequestering of triglyceride|positive regulation of triglyceride catabolic process	integral to membrane|lipid particle|plasma membrane	triglyceride lipase activity			breast(1)|endometrium(2)|lung(4)|prostate(1)|urinary_tract(1)	9		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.63e-25)|Epithelial(43;1.28e-24)|OV - Ovarian serous cystadenocarcinoma(40;7.09e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGGCCTGCGTGGAGCCCAC	0.716													A	824015	G	A	824015	3	1	215	1	0	0	0	0	1	0	0	0	12242	1145	40	1	963	1	PNPLA2	11	824015	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		824015	134182501	24	14768											
OR5D16	390144	broad.mit.edu	37	chr11	55606777	55606777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttcttctgtgagttaTcctccctgatatcactctct	7	18	4	12	0	5	2	2	2	3	0	8	2	7	2	2	0	0	1	2	0	2	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:55606777T>C	uc010rio.2	+	0	550	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTGTGAGTTATCCTCCCTGAT	0.418													C	55606777	T	C	55606777	3	2	215	1	0	0	0	0	1	0	0	0	11232	1435	50	3	552	3	OR5D16	11	55606777	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08	54782762	55606777	79399739	25	14769											
UVRAG	7405	broad.mit.edu	37	chr11	75852116	75852116	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctagccaagaacaaggaGaagccctctccgggcaccgg	12	3	11	15	2	1	2	0	0	1	2	2	3	1	2	5	3	3	1	5	3	5	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr11:75852116G>T	uc001oxc.3	+	14	2000	c.1759G>T	c.(1759-1761)Gaa>Taa	p.E587*	UVRAG_uc010rrw.2_Nonsense_Mutation_p.E486*|UVRAG_uc001oxd.3_Nonsense_Mutation_p.E215*|UVRAG_uc010rrx.2_Nonsense_Mutation_p.E215*|UVRAG_uc010rry.2_Nonsense_Mutation_p.E143*	NM_003369	NP_003360	Q9P2Y5	UVRAG_HUMAN	Homo sapiens UV radiation resistance associated gene (UVRAG), mRNA.	587					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						AGAACAAGGAGAAGCCCTCTC	0.577													T	75852116	G	T	75852116	4	4	215	1	0	0	0	0	0	1	0	0	17210	943	33	4	1817	4	UVRAG	11	75852116	Nonsense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	20245339	75852116	59154400	26	14770											
RACGAP1	29127	broad.mit.edu	37	chr12	50387942	50387942	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccataaaggctctgttaagGcgaaaggtcagaagaggttc	13	9	12	7	1	2	2	1	0	1	2	4	3	3	2	1	4	0	3	1	4	5	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:50387942G>C	uc001rvt.2	-	13	1621	c.1311C>G	c.(1309-1311)cgC>cgG	p.R437R	RACGAP1_uc009zlm.1_Silent_p.R437R|RACGAP1_uc001rvs.2_Silent_p.R437R|RACGAP1_uc001rvu.2_Silent_p.R437R	NM_013277	NP_037409	Q9H0H5	RGAP1_HUMAN	Homo sapiens Rac GTPase activating protein 1 (RACGAP1), transcript variant 1, mRNA.	437	Rho-GAP.				blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CTCTGTTAAGGCGAAAGGTCA	0.403													C	50387942	G	C	50387942	2	2	215	1	0	0	0	0	0	0	0	1	13065	1190	42	4		4	RACGAP1	12	50387942	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08		50387942	83463953	27	14771											
LRP1	4035	broad.mit.edu	37	chr12	57571370	57571370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcatcctttggattgacGccaggtcagcaccctctgtg	7	10	11	13	2	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	0	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:57571370G>A	uc001snd.3	+	25	4823	c.4357G>A	c.(4357-4359)Gcc>Acc	p.A1453T		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	1453					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.D1452D(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TTGGATTGACGCCAGGTCAGC	0.657													A	57571370	G	A	57571370	3	1	215	1	0	0	0	0	1	0	0	0	9021	1087	38	1	4459	1	LRP1	12	57571370	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	7183428	57571370	76280525	28	14772											
CLIP1	6249	broad.mit.edu	37	chr12	122839754	122839754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgccctctccagatcccGttccgccagcagctgctcaa	6	8	7	20	3	2	1	1	0	1	1	6	1	5	1	6	0	3	4	6	0	1	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:122839754G>A	uc001ucg.2	-	5	1266	c.1111C>T	c.(1111-1113)Cgg>Tgg	p.R371W	CLIP1_uc001uch.1_Missense_Mutation_p.R371W|CLIP1_uc001uci.1_Missense_Mutation_p.R371W|CLIP1_uc001ucj.1_Missense_Mutation_p.R72W|CLIP1_uc009zxo.1_5'Flank|CLIP1_uc010tae.2_Intron	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	371					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCAGATCCCGTTCCGCCAGC	0.632													A	122839754	G	A	122839754	3	1	215	1	0	0	0	0	1	0	0	0	3563	1144	40	1	3252	1	CLIP1	12	122839754	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	65268384	122839754	11012141	29	14773											
TMEM132D	121256	broad.mit.edu	37	chr12	129694161	129694161	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaccactttcaccgggacGgccaccgtcttccccgtgag	7	7	11	16	4	2	2	1	1	1	1	3	4	3	3	6	2	0	0	6	2	0	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr12:129694161G>A	uc009zyl.1	-	4	1675	c.1347C>T	c.(1345-1347)gcC>gcT	p.A449A		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	449						integral to membrane		p.A449V(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCACCGGGACGGCCACCGTCT	0.572													A	129694161	G	A	129694161	2	1	215	1	0	0	0	0	0	0	0	1	16147	1103	39	1		1	TMEM132D	12	129694161	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08	6854407	129694161	4157734	30	14774											
OR6S1	341799	broad.mit.edu	37	chr14	21109809	21109809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgggagccctgccaggacGaactctgttggatcactact	8	11	11	11	1	2	0	1	0	1	0	2	4	2	3	2	3	4	1	2	3	2	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr14:21109809G>A	uc001vxv.1	-	0	42	c.42C>T	c.(40-42)ttC>ttT	p.F14F		NM_001001968	NP_001001968	Q8NH40	OR6S1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily S, member 1 (OR6S1), mRNA.	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CTGCCAGGACGAACTCTGTTG	0.453													A	21109809	G	A	21109809	2	1	215	1	0	0	0	0	0	0	0	1	11285	1049	37	1		1	OR6S1	14	21109809	Silent	SNP	G	TCGA-28-5215-01A-01D-1486-08		21109809	86239731	31	14775											
VPS18	57617	broad.mit.edu	37	chr15	41191139	41191139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaaatgagcccaaccacGtggagctgggacgtaaggat	13	5	14	9	2	0	1	0	1	0	0	0	4	0	4	2	4	3	3	2	4	3	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:41191139G>A	uc001zne.3	+	2	607	c.268G>A	c.(268-270)Gtg>Atg	p.V90M		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	90					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCCAACCACGTGGAGCTGGG	0.488													A	41191139	G	A	41191139	3	1	215	1	0	0	0	0	1	0	0	0	17296	1145	40	1	278	1	VPS18	15	41191139	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		41191139	61340253	32	14776											
SLC30A4	7782	broad.mit.edu	37	chr15	45814527	45814527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttagcatagatttgaggCgcttccacgcgccagagccg	8	9	11	13	4	0	3	0	1	0	2	2	3	2	3	4	1	2	2	4	1	2	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr15:45814527C>T	uc001zvj.3	-	1	338	c.26G>A	c.(25-27)cGc>cAc	p.R9H	HMGN2P46_uc010beg.1_Intron|HMGN2P46_uc010beh.1_Intron|HMGN2P46_uc010bei.1_Intron|HMGN2P46_uc010bej.1_Intron|HMGN2P46_uc001zvn.1_Intron|HMGN2P46_uc001zvm.1_Intron	NM_013309	NP_037441	O14863	ZNT4_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 4 (SLC30A4), mRNA.	9					regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		AGATTTGAGGCGCTTCCACGC	0.652													T	45814527	C	T	45814527	3	4	215	1	0	0	0	0	1	0	0	0	14651	768	27	1	1291	1	SLC30A4	15	45814527	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	4623388	45814527	56716865	33	14777											
SHCBP1	79801	broad.mit.edu	37	chr16	46615749	46615749	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtcatcagcttgcgtgatCcccagttcactcaacctttt	7	15	6	13	1	4	1	4	1	0	0	5	1	5	1	3	0	3	2	3	0	1	5			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr16:46615749C>T	uc002eec.4	-	12	1951	c.1911G>A	c.(1909-1911)ggG>ggA	p.G637G		NM_024745	NP_079021	Q8NEM2	SHCBP_HUMAN	Homo sapiens SHC SH2-domain binding protein 1 (SHCBP1), mRNA.	637										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CTTGCGTGATCCCCAGTTCAC	0.433													T	46615749	C	T	46615749	2	4	215	1	0	0	0	0	0	0	0	1	14368	842	30	2		2	SHCBP1	16	46615749	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		46615749	43739004	34	14778											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:7579312C>T	uc002gim.2	-	4	569	c.375_splice	c.e4+1	p.T125_splice	TP53_uc002gig.1_Splice_Site_p.T125_splice|TP53_uc002gih.3_Splice_Site_p.T125_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.T125_splice|TP53_uc010cnh.1_Splice_Site_p.T125_splice|TP53_uc002gij.2_Splice_Site_p.T125_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site_p.T86_splice|TP53_uc010cnk.1_Splice_Site_p.T140_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			T	7579312	C	T	7579312	2	4	215	1	0	0	0	0	0	0	0	1	16482	666	23	1		1	TP53	17	7579312	Silent	SNP	C	TCGA-28-5215-01A-01D-1486-08		7579312	73615898	35	14779											
MYH2	4620	broad.mit.edu	37	chr17	10432722	10432722	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattcttgggccaacttcAagtcaccctcaagtttcctc	8	13	7	13	0	4	0	3	0	1	0	6	1	5	1	3	2	1	1	3	2	3	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:10432722A>T	uc010coi.3	-	24	3322	c.3194T>A	c.(3193-3195)tTg>tAg	p.L1065*	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Nonsense_Mutation_p.L1065*|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1065					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCAACTTCAAGTCACCCTC	0.373													T	10432722	A	T	10432722	4	4	215	1	0	0	0	0	0	1	0	0	10111	131	5	5	2695	5	MYH2	17	10432722	Nonsense_Mutation	SNP	A	TCGA-28-5215-01A-01D-1486-08	2853410	10432722	70762488	36	14780											
NR1D1	9572	broad.mit.edu	37	chr17	38252312	38252312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcatccgctgcttctcTcgtttggggatgcgcccaaa	7	10	11	13	3	1	0	0	0	1	0	4	1	2	1	2	2	3	5	2	2	2	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:38252312T>C	uc002htz.2	-	4	1259	c.633A>G	c.(631-633)cgA>cgG	p.R211R	NR1D1_uc010cwq.2_Non-coding_Transcript|NR1D1_uc010cwr.1_Intron	NM_021724	NP_068370	P20393	NR1D1_HUMAN	Homo sapiens nuclear receptor subfamily 1, group D, member 1 (NR1D1), mRNA.	211					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					GCTGCTTCTCTCGTTTGGGGA	0.562													C	38252312	T	C	38252312	2	2	215	1	0	0	0	0	0	0	0	1	10691	1538	54	3		3	NR1D1	17	38252312	Silent	SNP	T	TCGA-28-5215-01A-01D-1486-08	27819590	38252312	42942898	37	14781											
KRT17	3872	broad.mit.edu	37	chr17	39780481	39780481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaggtaggaggccaggCggtcattgaggttctgcatg	7	10	16	8	1	2	1	1	1	1	0	3	2	3	2	2	6	1	3	2	6	1	3	rs28928897		TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:39780481C>T	uc002hxh.2	-	0	402	c.281G>A	c.(280-282)cGc>cAc	p.R94H	JUP_uc010wfs.2_Intron|KRT17_uc010wft.2_Missense_Mutation_p.R94H	NM_000422	NP_000413	Q04695	K1C17_HUMAN	Homo sapiens keratin 17 (KRT17), mRNA.	94	Coil 1A.|Rod.		Missing (in PC2).|R -> C (in PC2 and SM).|R -> H (in SM).|R -> P (in PC2).	Missing (in Ref. 5; AAH72018).	epidermis development	cytoplasm|intermediate filament	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	12		Breast(137;0.000307)				GGAGGCCAGGCGGTCATTGAG	0.627													T	39780481	C	T	39780481	3	4	215	1	0	0	0	0	1	0	0	0	8512	768	27	1	1049	1	KRT17	17	39780481	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	1528169	39780481	41414729	38	14782											
HELZ	9931	broad.mit.edu	37	chr17	65157047	65157047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcagaatatgtttgacagCctgagctagagtgaacgttt	11	12	11	7	1	0	5	0	3	0	2	0	5	0	5	1	0	4	4	1	0	4	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr17:65157047C>T	uc010wqk.2	-	15	2228	c.2041G>A	c.(2041-2043)Gct>Act	p.A681T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.A681T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TGTTTGACAGCCTGAGCTAGA	0.493													T	65157047	C	T	65157047	3	4	215	1	0	0	0	0	1	0	0	0	7104	739	26	2	3859	2	HELZ	17	65157047	Missense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08	25376566	65157047	16038163	39	14783											
EPB41L3	23136	broad.mit.edu	37	chr18	5434010	5434010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattcatctgggtcatagTctccgagctctgactggaca	9	11	9	12	1	5	1	2	1	3	0	6	3	5	2	1	2	1	1	1	2	1	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr18:5434010T>C	uc002kmt.1	-	6	802	c.716A>G	c.(715-717)gAc>gGc	p.D239G	EPB41L3_uc010wzh.1_Missense_Mutation_p.D239G|EPB41L3_uc002kmu.1_Missense_Mutation_p.D239G|EPB41L3_uc010dkq.1_Missense_Mutation_p.D130G|EPB41L3_uc010dks.1_Missense_Mutation_p.D261G|EPB41L3_uc002kmv.1_Missense_Mutation_p.D130G	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	239	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	p.G238R(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TGGGTCATAGTCTCCGAGCTC	0.522													C	5434010	T	C	5434010	3	2	215	1	0	0	0	0	1	0	0	0	5195	1667	58	3	2611	3	EPB41L3	18	5434010	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08		5434010	72643238	40	14784											
CABIN1	23523	broad.mit.edu	37	chr22	24452748	24452748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagcggcggtctgcccGtgtccgaaacaccaagtgca	11	5	12	13	4	1	0	0	0	1	0	2	1	2	0	3	2	5	2	3	2	3	0			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chr22:24452748G>A	uc002zzi.1	+	9	1314	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	CABIN1_uc021wnc.1_Missense_Mutation_p.R346H|CABIN1_uc002zzj.1_Missense_Mutation_p.R346H|CABIN1_uc002zzl.2_Missense_Mutation_p.R396H|CABIN1_uc010guk.1_Missense_Mutation_p.R351H|CABIN1_uc002zzk.2_Missense_Mutation_p.R351H	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	396					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGGTCTGCCCGTGTCCGAAAC	0.448													A	24452748	G	A	24452748	3	1	215	1	0	0	0	0	1	0	0	0	2554	1145	40	1	1221	1	CABIN1	22	24452748	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08		24452748	26851818	41	14785											
DCAF8L2	347442	broad.mit.edu	37	chrX	27765562	27765562	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagacatctgccctgcccCgacctcgctggcaggtcgtt	6	8	11	16	3	1	1	0	0	1	1	3	3	1	1	4	2	2	3	4	2	0	1			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:27765562C>T	uc011mjy.2	+	0	637	c.550C>T	c.(550-552)Cga>Tga	p.R184*		NM_001136533	NP_001130005			Homo sapiens DDB1 and CUL4 associated factor 8-like 2 (DCAF8L2), mRNA.											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						TGCCCTGCCCCGACCTCGCTG	0.612													T	27765562	C	T	27765562	4	4	215	1	0	0	0	0	0	1	0	0	4312	644	23	1	552	1	DCAF8L2	23	27765562	Nonsense_Mutation	SNP	C	TCGA-28-5215-01A-01D-1486-08		27765562	127504998	42	14786											
ZNF630	57232	broad.mit.edu	37	chrX	47918931	47918931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaggtgtgatttctcactGaaggctttcctacaatctcc	9	14	8	10	0	2	3	1	3	2	0	5	3	3	3	2	2	1	1	2	2	3	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:47918931G>C	uc004div.4	-	4	1152	c.900C>G	c.(898-900)ttC>ttG	p.F300L	ZNF630_uc010nhz.1_Intron|ZNF630_uc022bvr.1_Missense_Mutation_p.F286L|ZNF630_uc022bvs.1_Missense_Mutation_p.F300L	NM_001037735	NP_001032824	Q2M218	ZN630_HUMAN	Homo sapiens zinc finger protein 630 (ZNF630), transcript variant 1, mRNA.	300					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATTTCTCACTGAAGGCTTTCC	0.413													C	47918931	G	C	47918931	3	2	215	1	0	0	0	0	1	0	0	0	18155	1281	45	4	1077	4	ZNF630	23	47918931	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	20153369	47918931	107351629	43	14787											
DCX	1641	broad.mit.edu	37	chrX	110644549	110644549	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgtctgaggaacagacaTagctttcccctaaggcaaga	13	9	10	9	0	1	3	0	1	1	2	2	4	2	4	2	2	2	3	2	2	4	4			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:110644549T>G	uc004epd.3	-	2	789	c.617A>C	c.(616-618)tAt>tCt	p.Y206S	DCX_uc011msv.2_Missense_Mutation_p.Y206S|DCX_uc004epe.3_Missense_Mutation_p.Y125S|DCX_uc004epf.3_Missense_Mutation_p.Y125S|DCX_uc004epg.3_Missense_Mutation_p.Y125S	NM_000555	NP_835366	O43602	DCX_HUMAN	Homo sapiens doublecortin (DCX), transcript variant 1, mRNA.	206	Doublecortin 1.		Y -> D (in SBHX).|Y -> H (in LISX1 and SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.Y206F(2)|p.Y125F(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GGAACAGACATAGCTTTCCCC	0.378													G	110644549	T	G	110644549	3	3	215	1	0	0	0	0	1	0	0	0	4352	1406	49	5	743	5	DCX	23	110644549	Missense_Mutation	SNP	T	TCGA-28-5215-01A-01D-1486-08	62725618	110644549	44626011	44	14788											
AIFM1	9131	broad.mit.edu	37	chrX	129264005	129264005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatccccacgaccactttGtccctgaggtagaagatgac	12	8	8	13	1	0	4	0	2	0	2	2	5	2	4	4	1	0	1	4	1	3	2			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:129264005G>T	uc004evg.3	-	14	1941	c.1710C>A	c.(1708-1710)gaC>gaA	p.D570E	AIFM1_uc011mur.2_Missense_Mutation_p.D218E|AIFM1_uc011mus.2_3'UTR|AIFM1_uc004evh.3_Missense_Mutation_p.D566E|AIFM1_uc004evi.3_Missense_Mutation_p.D283E|AIFM1_uc004evk.3_Missense_Mutation_p.D218E	NM_004208	NP_004199	O95831	AIFM1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 1 (AIFM1), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	570					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CGACCACTTTGTCCCTGAGGT	0.517													T	129264005	G	T	129264005	3	4	215	1	0	0	0	0	1	0	0	0	426	1368	48	4	139	4	AIFM1	23	129264005	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	18619456	129264005	26006555	45	14789											
ATP6AP1	537	broad.mit.edu	37	chrX	153663708	153663708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagcaatggctccgtcGcctacttcaatgcttcccag	8	10	7	16	2	1	0	1	0	0	0	5	0	4	0	4	1	3	3	4	1	3	3			TCGA-28-5215-01A-01D-1486-08	TCGA-28-5215-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34c77b5d-c3a6-4e83-96f4-fadd729362d9	0a812843-5ccb-4b1a-9507-22ebef53b113	g.chrX:153663708G>A	uc004flf.1	+	8	1121	c.1060G>A	c.(1060-1062)Gcc>Acc	p.A354T	ATP6AP1_uc004flg.1_Non-coding_Transcript|ATP6AP1_uc004flh.1_Missense_Mutation_p.A314T|GDI1_uc011mzo.1_5'Flank|GDI1_uc004fli.4_5'Flank	NM_001183	NP_001174	Q15904	VAS1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal accessory protein 1 (ATP6AP1), mRNA.	354					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGCTCCGTCGCCTACTTCAA	0.597													A	153663708	G	A	153663708	3	1	215	1	0	0	0	0	1	0	0	0	1170	1087	38	1	1094	1	ATP6AP1	23	153663708	Missense_Mutation	SNP	G	TCGA-28-5215-01A-01D-1486-08	24399703	153663708	1606852	46	14790											
ABCA4	24	broad.mit.edu	37	chr1	94512564	94512564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagacggtccacagctggCcggccacagggctcaaaaat	11	6	11	13	2	2	1	2	0	0	1	3	1	3	1	3	4	1	2	3	4	2	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:94512564C>T	uc001dqh.3	-	18	2933	c.2829G>A	c.(2827-2829)cgG>cgA	p.R943R	ABCA4_uc010otn.1_Silent_p.R869R	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	943	ABC transporter 1.		R -> Q (in linkage disequilibrium with A- 863 in the European population; dbSNP:rs1801581).|R -> W (in STGD1 and FFM).		phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CCACAGCTGGCCGGCCACAGG	0.522													T	94512564	C	T	94512564	2	4	216	1	0	0	0	0	0	0	0	1	34	726	26	2		2	ABCA4	1	94512564	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		94512564	154738057	1	14791											
PSMD4	5710	broad.mit.edu	37	chr1	151237667	151237667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaactggctaaacgcctcaAgaaggagaaagtaaatgttg	17	7	11	6	1	1	2	1	0	0	2	1	4	1	2	1	2	2	3	1	2	8	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:151237667A>G	uc001exl.3	+	4	457	c.395A>G	c.(394-396)aAg>aGg	p.K132R		NM_002810	NP_002801	P55036	PSMD4_HUMAN	Homo sapiens proteasome (prosome, macropain) 26S subunit, non-ATPase, 4 (PSMD4), mRNA.	132	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			AAACGCCTCAAGAAGGAGAAA	0.453													G	151237667	A	G	151237667	3	3	216	1	0	0	0	0	1	0	0	0	12785	72	3	3	413	3	PSMD4	1	151237667	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	56725103	151237667	98012954	2	14792											
XCL1	6375	broad.mit.edu	37	chr1	168549318	168549318	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtagggagtgaagtcTcagataagaggacctgtgtg	11	9	16	5	0	1	3	1	1	1	2	2	5	1	5	1	3	0	1	1	3	3	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:168549318T>G	uc001gfo.2	+	1	244	c.79T>G	c.(79-81)Tca>Gca	p.S27A		NM_002995	NP_002986	P47992	XCL1_HUMAN	Homo sapiens chemokine (C motif) ligand 1 (XCL1), mRNA.	27					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGTGAAGTCTCAGATAAGAG	0.433													G	168549318	T	G	168549318	3	3	216	1	0	0	0	0	1	0	0	0	17525	1551	54	5	85	5	XCL1	1	168549318	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08	17311651	168549318	80701303	3	14793											
HHIPL2	79802	broad.mit.edu	37	chr1	222717273	222717273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttgggccaccatgcccaGgtggcggttgagatagtcgt	7	10	14	10	2	1	1	0	1	1	1	2	2	1	1	3	4	1	1	3	4	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr1:222717273G>C	uc001hnh.1	-	1	638	c.580C>G	c.(580-582)Ctg>Gtg	p.L194V		NM_024746	NP_079022	Q6UWX4	HIPL2_HUMAN	Homo sapiens HHIP-like 2 (HHIPL2), mRNA.	194					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		ACCATGCCCAGGTGGCGGTTG	0.607													C	222717273	G	C	222717273	3	2	216	1	0	0	0	0	1	0	0	0	7149	991	35	4	1626	4	HHIPL2	1	222717273	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	54167955	222717273	26533348	4	14794											
GPN1	11321	broad.mit.edu	37	chr2	27861753	27861753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttctctctggtacagaCtgacatcattgaccacagct	10	12	7	12	0	3	4	1	3	2	1	4	4	3	4	1	1	2	2	1	1	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:27861753C>T	uc010ymc.2	+	9	634	c.613_splice	c.e9-1	p.T205_splice	GPN1_uc010ezf.3_Splice_Site_p.T179_splice|GPN1_uc010yma.2_Splice_Site_p.T112_splice|GPN1_uc010ymb.2_Splice_Site_p.T96_splice|GPN1_uc010ymd.2_Splice_Site_p.T86_splice|GPN1_uc010ezg.1_Splice_Site_p.T86_splice	NM_007266	NP_001138520	Q9HCN4	GPN1_HUMAN	Homo sapiens GPN-loop GTPase 1 (GPN1), transcript variant 1, mRNA.	191						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CTGGTACAGACTGACATCATT	0.393													T	27861753	C	T	27861753	3	4	216	1	0	0	0	0	1	0	0	0	6671	579	20	2	731	2	GPN1	2	27861753	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		27861753	215337620	5	14795											
TTN	7273	broad.mit.edu	37	chr2	179496000	179496000	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacaccagtataatcttgaAgttttcctgtaaaatatggg	13	14	7	7	0	1	1	0	1	1	0	2	1	2	1	2	1	1	3	2	1	7	8			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:179496000A>C	uc021vsy.1	-	185	36296	c.36071T>G	c.(36070-36072)cTt>cGt	p.L12024R	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.L5719R|TTN_uc021vta.1_Missense_Mutation_p.L5652R|TTN_uc021vtb.1_Missense_Mutation_p.L5527R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12951	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAATCTTGAAGTTTTCCTGT	0.348													C	179496000	A	C	179496000	3	2	216	1	0	0	0	0	1	0	0	0	16837	72	3	5	64422	5	TTN	2	179496000	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	151634247	179496000	63703373	6	14796											
DNAH7	56171	broad.mit.edu	37	chr2	196753131	196753131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagcctaacatgtgaggctCcatgtaaatcatgccacatc	12	9	7	13	0	1	1	1	1	0	0	3	1	2	1	4	1	3	2	4	1	3	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:196753131C>G	uc002utj.4	-	32	5358	c.5257G>C	c.(5257-5259)Gag>Cag	p.E1753Q		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	1753	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGTGAGGCTCCATGTAAATC	0.393													G	196753131	C	G	196753131	3	3	216	1	0	0	0	0	1	0	0	0	4645	864	30	4	6949	4	DNAH7	2	196753131	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	17257131	196753131	46446242	7	14797											
ZDBF2	57683	broad.mit.edu	37	chr2	207171009	207171009	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaagttttgattgtgAtgtttctcttgagtcagtag	10	17	10	4	0	2	4	1	4	1	0	3	4	2	4	0	0	1	3	0	0	3	6			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr2:207171009A>G	uc002vbp.2	+	4	2007	c.1757A>G	c.(1756-1758)gAt>gGt	p.D586G		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	586							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TTTGATTGTGATGTTTCTCTT	0.428													G	207171009	A	G	207171009	3	3	216	1	0	0	0	0	1	0	0	0	17700	333	12	3	1767	3	ZDBF2	2	207171009	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	10417878	207171009	36028364	8	14798											
ZNF860	344787	broad.mit.edu	37	chr3	32031844	32031844	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatccataatgaagagagaTcttacaagtgtaataaatgt	18	11	8	4	0	1	3	0	1	1	2	2	5	2	3	1	0	1	1	1	0	8	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:32031844T>G	uc011axg.2	+	1	1822	c.1273T>G	c.(1273-1275)Tct>Gct	p.S425A	ZNF860_uc021wuv.1_Missense_Mutation_p.S425A	NM_001137674	NP_001131146	A6NHJ4	ZN860_HUMAN	Homo sapiens zinc finger protein 860 (ZNF860), mRNA.	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						TGAAGAGAGATCTTACAAGTG	0.348													G	32031844	T	G	32031844	3	3	216	1	0	0	0	0	1	0	0	0	18293	1435	50	5	1275	5	ZNF860	3	32031844	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08		32031844	165990586	9	14799											
SETD2	29072	broad.mit.edu	37	chr3	47127761	47127761	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaacaaagacagcccaTgacgttccagaaaggacttc	15	6	7	13	1	0	3	0	1	0	2	3	4	2	4	3	1	2	1	3	1	3	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:47127761T>C	uc003cqv.3	-	11	5608	c.5522A>G	c.(5521-5523)cAt>cGt	p.H1841R	SETD2_uc003cqs.3_Missense_Mutation_p.H1774R|SETD2_uc003cqt.1_5'Flank	NM_014159	NP_054878	Q9BYW2	SETD2_HUMAN	Homo sapiens SET domain containing 2 (SETD2), mRNA.	1774					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGACAGCCCATGACGTTCCAG	0.498			"N, F, S, Mis"		clear cell renal carcinoma								C	47127761	T	C	47127761	3	2	216	1	0	0	0	0	1	0	0	0	14224	1464	51	3	2417	3	SETD2	3	47127761	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08	15095917	47127761	150894669	10	14800											
MST1	4485	broad.mit.edu	37	chr3	49723304	49723304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	5	7	16	13	5	2	0	2	0	1	0	3	2	2	2	1	4	4	1	1	4	0	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:49723304C>T	uc003cxg.3	-	9	1311	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_uc011bcs.1_Missense_Mutation_p.R452H	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682													T	49723304	C	T	49723304	2	4	216	1	0	0	0	0	0	0	0	1	9966	755	27	1		1	MST1	3	49723304	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	2595543	49723304	148299126	11	14801											
SLMAP	7871	broad.mit.edu	37	chr3	57898233	57898233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctccttcatcaagcagcaGcaaaggttgcctctgagcgg	9	9	11	12	1	3	1	2	1	1	0	4	1	4	1	2	2	6	5	2	2	2	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr3:57898233G>T	uc003dje.1	+	17	1979	c.1774G>T	c.(1774-1776)Gca>Tca	p.A592S	SLMAP_uc003djd.1_Missense_Mutation_p.A575S|SLMAP_uc003djf.1_Missense_Mutation_p.A554S|SLMAP_uc003djg.1_Missense_Mutation_p.A186S|SLMAP_uc011bez.1_Missense_Mutation_p.A60S|SLMAP_uc011bfa.1_Missense_Mutation_p.A126S|SLMAP_uc003djh.3_Missense_Mutation_p.A85S|SLMAP_uc003dji.1_Missense_Mutation_p.A126S|SLMAP_uc011bfb.1_Missense_Mutation_p.A126S|SLMAP_uc011bfc.1_Missense_Mutation_p.A85S	NM_007159	NP_009090	Q14BN4	SLMAP_HUMAN	Homo sapiens sarcolemma associated protein (SLMAP), mRNA.	592					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAAGCAGCAGCAAAGGTTGC	0.483													T	57898233	G	T	57898233	3	4	216	1	0	0	0	0	1	0	0	0	14843	971	34	4	1789	4	SLMAP	3	57898233	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	8174929	57898233	140124197	12	14802											
KIAA1109	84162	broad.mit.edu	37	chr4	123238013	123238013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggccaaagtaatagatgatCtgaagtatgtacaatgattt	16	12	9	4	0	1	4	0	3	1	1	1	4	1	4	1	1	1	3	1	1	7	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr4:123238013C>G	uc003ieh.3	+	59	10711	c.10666C>G	c.(10666-10668)Ctg>Gtg	p.L3556V	KIAA1109_uc003iel.1_Missense_Mutation_p.L1491V	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	3556					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						AATAGATGATCTGAAGTATGT	0.328													G	123238013	C	G	123238013	3	3	216	1	0	0	0	0	1	0	0	0	8266	912	32	4	10904	4	KIAA1109	4	123238013	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		123238013	67916263	13	14803											
ZNF608	57507	broad.mit.edu	37	chr5	124080387	124080387	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttgatttgctggtctctTtgtgtgaattcccctgggga	4	18	11	8	0	1	2	0	2	1	0	3	3	2	3	2	3	1	1	2	3	1	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:124080387T>G	uc003ktq.1	-	0	479	c.296A>C	c.(295-297)aAa>aCa	p.K99T	ZNF608_uc003ktr.1_Non-coding_Transcript|ZNF608_uc003kts.1_Missense_Mutation_p.K99T|ZNF608_uc003ktt.1_Missense_Mutation_p.K99T	NM_020747	NP_065798	Q9ULD9	ZN608_HUMAN	Homo sapiens zinc finger protein 608 (ZNF608), mRNA.	99						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCTGGTCTCTTTGTGTGAATT	0.507													G	124080387	T	G	124080387	3	3	216	1	0	0	0	0	1	0	0	0	18135	1841	64	5	4278	5	ZNF608	5	124080387	Missense_Mutation	SNP	T	TCGA-28-5216-01A-01D-1486-08		124080387	56834873	14	14804											
PCDHAC2	56147	broad.mit.edu	37	chr5	140166327	140166327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctagactcctgaattcgcGttttccgatagaaggagctg	10	12	10	9	3	1	3	0	1	1	2	4	5	3	4	2	1	1	2	2	1	4	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr5:140166327G>A	uc003lhb.2	+	0	452	c.452G>A	c.(451-453)cGt>cAt	p.R151H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R151H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R151H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	166	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.R150Q(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGAATTCGCGTTTTCCGATA	0.448													A	140166327	G	A	140166327	3	1	216	1	0	0	0	0	1	0	0	0	11609	1145	40	1		1	PCDHAC2	5	140166327	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	16085940	140166327	40748933	15	14805											
MYLIP	29116	broad.mit.edu	37	chr6	16141881	16141881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctttttcttgcacatcaagGaggccctcttggcaggccac	7	12	9	13	0	4	0	1	0	3	0	4	1	4	1	2	4	1	2	2	4	1	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr6:16141881G>C	uc003nbq.3	+	2	541	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	MYLIP_uc003nbr.3_5'UTR	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	102	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GCACATCAAGGAGGCCCTCTT	0.512													C	16141881	G	C	16141881	3	2	216	1	0	0	0	0	1	0	0	0	10131	1175	41	4	314	4	MYLIP	6	16141881	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		16141881	154973186	16	14806											
C7orf65	401335	broad.mit.edu	37	chr7	47698593	47698593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggggaagcagggagctgCtatttctgttcaaggcaatc	9	10	14	8	0	2	0	1	0	1	0	3	2	2	2	0	4	3	6	0	4	4	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:47698593C>A	uc010kyp.1	+	2	258	c.223C>A	c.(223-225)Cta>Ata	p.L75I		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	75										endometrium(1)|lung(2)	3						CAGGGAGCTGCTATTTCTGTT	0.502													A	47698593	C	A	47698593	3	1	216	1	0	0	0	0	1	0	0	0	2435	796	28	4	233	4	C7orf65	7	47698593	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		47698593	111440070	17	14807											
MUC17	140453	broad.mit.edu	37	chr7	100701312	100701312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaggcctcaggtaatgaCgacatcattttaaggcatgg	12	10	11	8	1	3	2	3	1	0	1	3	3	3	2	1	4	0	2	1	4	2	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:100701312C>T	uc003uxp.1	+	12	13522	c.13469C>T	c.(13468-13470)aCg>aTg	p.T4490M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	4490						extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T4490T(1)		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)					CAGGTAATGACGACATCATTT	0.493													T	100701312	C	T	100701312	3	4	216	1	0	0	0	0	1	0	0	0	10050	536	19	1	13519	1	MUC17	7	100701312	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	53002719	100701312	58437351	18	14808											
SLC26A3	1811	broad.mit.edu	37	chr7	107416977	107416977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgaaaattttcactccttCtggctcatacatctgtaagg	10	15	6	10	0	5	1	2	1	3	0	6	1	6	1	1	2	1	2	1	2	4	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:107416977C>G	uc003ver.2	-	14	1808	c.1597G>C	c.(1597-1599)Gaa>Caa	p.E533Q	SLC26A3_uc003ves.2_Missense_Mutation_p.E498Q	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	533	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	p.E533K(2)|p.P532Q(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTCACTCCTTCTGGCTCATAC	0.378													G	107416977	C	G	107416977	3	3	216	1	0	0	0	0	1	0	0	0	14612	922	32	4	725	4	SLC26A3	7	107416977	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	6715665	107416977	51721686	19	14809											
OR6B1	135946	broad.mit.edu	37	chr7	143701298	143701298	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacctgtccttcttggAgacctggtacatctctgtga	7	12	10	12	0	2	2	0	1	2	1	4	3	3	2	4	3	2	1	4	3	2	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr7:143701298A>T	uc003wdt.1	+	0	209	c.209A>T	c.(208-210)gAg>gTg	p.E70V		NM_001005281	NP_001005281	O95007	OR6B1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily B, member 1 (OR6B1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					TCCTTCTTGGAGACCTGGTAC	0.458													T	143701298	A	T	143701298	3	4	216	1	0	0	0	0	1	0	0	0	11263	304	11	5	211	5	OR6B1	7	143701298	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08	36284321	143701298	15437365	20	14810											
RUNX1T1	862	broad.mit.edu	37	chr8	93027036	93027036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtaggagaatggctcGtgccattagttactgtcaag	10	11	13	7	1	1	1	1	0	0	1	2	2	1	1	1	3	2	4	1	3	5	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:93027036G>A	uc022axs.1	-	3	603	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RUNX1T1_uc003yfc.2_Missense_Mutation_p.T53M|RUNX1T1_uc010mam.3_Missense_Mutation_p.T53M|RUNX1T1_uc003yfe.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yfd.3_Missense_Mutation_p.T80M|RUNX1T1_uc022axo.1_Missense_Mutation_p.T80M|RUNX1T1_uc010mao.3_Missense_Mutation_p.T53M|RUNX1T1_uc011lgi.2_Missense_Mutation_p.T91M|RUNX1T1_uc022axp.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axq.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axr.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axt.1_Missense_Mutation_p.T80M|RUNX1T1_uc022axu.1_Missense_Mutation_p.T60M|RUNX1T1_uc022axv.1_Missense_Mutation_p.T80M|RUNX1T1_uc003yfb.2_Missense_Mutation_p.T43M|RUNX1T1_uc003yff.1_Missense_Mutation_p.T43M|RUNX1T1_uc003yfg.2_Missense_Mutation_p.T43M	NM_001198679	NP_001185608	Q06455	MTG8_HUMAN	Homo sapiens runt-related transcription factor 1; translocated to, 1 (cyclin D-related) (RUNX1T1), transcript variant 15, mRNA.	80	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AGAATGGCTCGTGCCATTAGT	0.473													A	93027036	G	A	93027036	3	1	216	1	0	0	0	0	1	0	0	0	13838	1145	40	1	1611	1	RUNX1T1	8	93027036	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		93027036	53336986	21	14811											
KCNK9	51305	broad.mit.edu	37	chr8	140630517	140630517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctaaacggacttccggCgtttcatcagcctctggtgg	8	10	10	13	3	3	0	2	0	1	0	4	1	4	1	3	4	2	1	3	4	2	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:140630517C>T	uc003yvf.1	-	1	1173	c.1109G>A	c.(1108-1110)cGc>cAc	p.R370H	KCNK9_uc003yvg.1_Missense_Mutation_p.R370H|KCNK9_uc003yve.1_Non-coding_Transcript	NM_016601	NP_057685	Q9NPC2	KCNK9_HUMAN	Homo sapiens potassium channel, subfamily K, member 9 (KCNK9), mRNA.	370						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GGACTTCCGGCGTTTCATCAG	0.453													T	140630517	C	T	140630517	3	4	216	1	0	0	0	0	1	0	0	0	8130	768	27	1	19	1	KCNK9	8	140630517	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	47603481	140630517	5733505	22	14812											
PLEC	5339	broad.mit.edu	37	chr8	144992145	144992145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcatggcctggtacacCgagagccgttccttggtggc	5	12	12	12	2	2	1	1	0	1	1	3	2	3	1	4	4	2	2	4	4	1	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr8:144992145C>T	uc003zaf.1	-	31	12425	c.12255G>A	c.(12253-12255)tcG>tcA	p.S4085S	PLEC_uc003zab.1_Silent_p.S3948S|PLEC_uc003zac.1_Silent_p.S3952S|PLEC_uc003zad.2_Silent_p.S3948S|PLEC_uc003zae.1_Silent_p.S3916S|PLEC_uc003zag.1_Silent_p.S3926S|PLEC_uc003zah.2_Silent_p.S3934S|PLEC_uc003zaj.2_Silent_p.S3975S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4085	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCTGGTACACCGAGAGCCGTT	0.612													T	144992145	C	T	144992145	2	4	216	1	0	0	0	0	0	0	0	1	12129	639	23	1		1	PLEC	8	144992145	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	4361628	144992145	1371877	23	14813											
PTEN	5728	broad.mit.edu	37	chr10	89653826	89653826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatttcctgcagaaagaCttgaaggcgtatacaggaac	13	9	12	7	1	0	3	0	1	0	2	1	5	1	5	1	3	3	2	1	3	5	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:89653826C>G	uc001kfb.3	+	1	1156	c.124C>G	c.(124-126)Ctt>Gtt	p.L42V	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	42	Phosphatase tensin-type.		L -> R (in glioma; retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.L42R(6)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.L42P(1)|p.R41fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGCAGAAAGACTTGAAGGCGT	0.294		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89653826	C	G	89653826	3	3	216	1	0	0	0	0	1	0	0	0	12823	565	20	4	130	4	PTEN	10	89653826	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		89653826	45880921	24	14814											
SLC18A2	6571	broad.mit.edu	37	chr10	119014867	119014867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgctggccgccctggtactCttggatggaggtgagtgagt	5	11	17	8	1	1	2	0	2	1	0	1	4	1	4	2	5	2	2	2	5	1	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr10:119014867C>T	uc001ldd.2	+	6	943	c.780C>T	c.(778-780)ctC>ctT	p.L260L	SLC18A2_uc009xyy.2_Silent_p.L57L	NM_003054	NP_003045	Q05940	VMAT2_HUMAN	Homo sapiens solute carrier family 18 (vesicular monoamine), member 2 (SLC18A2), mRNA.	260					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCCTGGTACTCTTGGATGGAG	0.627													T	119014867	C	T	119014867	2	4	216	1	0	0	0	0	0	0	0	1	14520	900	32	2		2	SLC18A2	10	119014867	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	29361041	119014867	16519880	25	14815											
OR51E1	143503	broad.mit.edu	37	chr11	4673967	4673967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatttctttgcatgctttcaGgcattgacatcctcatctcc	7	17	5	12	0	4	1	2	1	2	0	6	1	5	1	2	1	2	3	2	1	1	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:4673967G>C	uc021qcq.1	+	0	211	c.211G>C	c.(211-213)Ggc>Cgc	p.G71R	OR51E1_uc001lzi.4_Missense_Mutation_p.G71R	NM_152430	NP_689643	Q8TCB6	O51E1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily E, member 1 (OR51E1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		CATGCTTTCAGGCATTGACAT	0.453													C	4673967	G	C	4673967	3	2	216	1	0	0	0	0	1	0	0	0	11170	1000	35	4	213	4	OR51E1	11	4673967	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		4673967	130332549	26	14816											
OR4B1	119765	broad.mit.edu	37	chr11	48238725	48238725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcctatgattgctacGtggccatttgcaagcctctt	7	14	10	10	1	1	2	0	2	1	0	1	2	1	2	3	2	4	2	3	2	3	5	rs150231573	byFrequency	TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:48238725G>A	uc010rhs.2	+	0	364	c.364G>A	c.(364-366)Gtg>Atg	p.V122M		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGATTGCTACGTGGCCATTTG	0.473													A	48238725	G	A	48238725	3	1	216	1	0	0	0	0	1	0	0	0	11120	1145	40	1	366	1	OR4B1	11	48238725	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	43564758	48238725	86767791	27	14817											
MS4A14	84689	broad.mit.edu	37	chr11	60164081	60164081	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcccaggacagaagggcAactcacgtcatcactataaa	16	6	7	12	1	3	1	3	0	0	1	4	2	4	2	1	2	1	1	1	2	5	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:60164081A>T	uc001npj.3	+	0	595	c.30A>T	c.(28-30)gcA>gcT	p.A10A	MS4A14_uc001npi.3_Intron|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Silent_p.A10A|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	10						integral to membrane	receptor activity	p.A10D(2)|p.A10A(2)|p.A10E(1)		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						ACAGAAGGGCAACTCACGTCA	0.458													T	60164081	A	T	60164081	2	4	216	1	0	0	0	0	0	0	0	1	9934	117	5	5		5	MS4A14	11	60164081	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	11925356	60164081	74842435	28	14818											
P2RY2	5029	broad.mit.edu	37	chr11	72946285	72946285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtgaggactctaggCggacagagtccacgccggct	9	5	15	12	3	1	2	0	1	1	1	2	4	2	4	2	4	1	3	2	4	1	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:72946285C>T	uc021qna.1	+	0	1081	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	P2RY2_uc001otk.3_Missense_Mutation_p.R361W|P2RY2_uc001otj.3_Missense_Mutation_p.R361W|P2RY2_uc001otl.3_Missense_Mutation_p.R361W	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	361					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R361P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GGACTCTAGGCGGACAGAGTC	0.582													T	72946285	C	T	72946285	3	4	216	1	0	0	0	0	1	0	0	0	11428	759	27	1	1083	1	P2RY2	11	72946285	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	12782204	72946285	62060231	29	14819											
GDPD5	81544	broad.mit.edu	37	chr11	75160035	75160035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccatgggggccccgCggtggccaatgagagcaggc	8	4	15	14	2	1	1	1	1	0	1	1	2	1	1	4	5	1	1	4	5	1	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:75160035C>T	uc001owo.4	-	9	1238	c.701G>A	c.(700-702)cGc>cAc	p.R234H	GDPD5_uc001owp.4_Missense_Mutation_p.R234H|GDPD5_uc001own.4_5'UTR|GDPD5_uc009yuc.3_Missense_Mutation_p.R96H|GDPD5_uc009yud.3_Missense_Mutation_p.R115H|GDPD5_uc009yue.1_Missense_Mutation_p.R122H	NM_030792	NP_110419	Q8WTR4	GDPD5_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 5 (GDPD5), mRNA.	234	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity	p.R234H(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GGGGGCCCCGCGGTGGCCAAT	0.607													T	75160035	C	T	75160035	3	4	216	1	0	0	0	0	1	0	0	0	6383	768	27	1	1152	1	GDPD5	11	75160035	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	2213750	75160035	59846481	30	14820											
USP35	57558	broad.mit.edu	37	chr11	77920718	77920718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctcctcctgagcgctGtcgccgccgccgcctgggct	1	9	11	20	5	0	1	0	1	0	0	4	1	3	1	7	1	1	2	7	1	0	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:77920718G>A	uc021qny.1	+	9	2173	c.1817G>A	c.(1816-1818)tGt>tAt	p.C606Y	USP35_uc001oze.2_Missense_Mutation_p.C362Y|USP35_uc001ozc.3_Missense_Mutation_p.C174Y|USP35_uc010rsp.2_Missense_Mutation_p.C38Y|USP35_uc001ozd.3_Missense_Mutation_p.C217Y|USP35_uc001ozf.3_Missense_Mutation_p.C337Y	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	606					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CCTGAGCGCTGTCGCCGCCGC	0.657													A	77920718	G	A	77920718	3	1	216	1	0	0	0	0	1	0	0	0	17168	1377	48	2	1851	2	USP35	11	77920718	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	2760683	77920718	57085798	31	14821											
HEPHL1	341208	broad.mit.edu	37	chr11	93803618	93803618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagggtcaacagaggcGctactttatagcagctgaaa	14	8	12	7	1	1	3	1	2	0	1	1	4	1	3	0	2	4	3	0	2	6	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:93803618G>A	uc001pep.2	+	5	1299	c.1142G>A	c.(1141-1143)cGc>cAc	p.R381H	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	381	Plastocyanin-like 3.		R -> C (in dbSNP:rs12291622).		copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAACAGAGGCGCTACTTTATA	0.443													A	93803618	G	A	93803618	3	1	216	1	0	0	0	0	1	0	0	0	7110	1087	38	1	1164	1	HEPHL1	11	93803618	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	15882900	93803618	41202898	32	14822											
FUT4	2526	broad.mit.edu	37	chr11	94278241	94278244	+	Frame_Shift_Del	DEL	CAAC	CAAC	-																															agcctggcaagtaacctcttCaactggacgctctcctaccg																										TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr11:94278241_94278244delCAAC	uc001pez.3	+	0	1225_1228	c.942_945delCAAC	c.(940-945)ttcaacfs	p.F314fs	PIWIL4_uc010rue.1_Intron|PIWIL4_uc009ywk.2_5'Flank	NM_002033	NP_002024	P22083	FUT4_HUMAN	Homo sapiens fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific) (FUT4), mRNA.	314					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GTAACCTCTTCAACTGGACGCTCT	0.681													-	94278244	CAAC	-	94278241	7	5	216	1	0	1	0	1	0	0	0	0	6158	825	29	0	944	0	FUT4	11	94278241	Frame_Shift_Del	DEL	CAAC	TCGA-28-5216-01A-01D-1486-08	474623	94278241	40728275	33	14823											
SOX5	6660	broad.mit.edu	37	chr12	24048786	24048786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcttgcgtcagcagagAaactggctgaaattcctcag	11	10	10	10	1	3	2	2	1	1	1	5	3	4	2	1	1	3	2	1	1	2	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:24048786A>G	uc001rfw.3	-	1	313	c.211T>C	c.(211-213)Tct>Cct	p.S71P	SOX5_uc001rfx.3_Missense_Mutation_p.S58P|SOX5_uc001rfy.3_Missense_Mutation_p.S58P|SOX5_uc010siv.2_Missense_Mutation_p.S58P|SOX5_uc010siw.1_Non-coding_Transcript|SOX5_uc001rfz.1_Intron|SOX5_uc001rga.3_Intron	NM_006940	NP_694534	P35711	SOX5_HUMAN	Homo sapiens SRY (sex determining region Y)-box 5 (SOX5), transcript variant 1, mRNA.	71					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GTCAGCAGAGAAACTGGCTGA	0.483													G	24048786	A	G	24048786	3	3	216	1	0	0	0	0	1	0	0	0	15048	246	9	3	2146	3	SOX5	12	24048786	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		24048786	109803109	34	14824											
OR8S1	341568	broad.mit.edu	37	chr12	48919470	48919470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctccttgggctgtctgCcgaccccaacatccgggctc	4	9	9	19	2	1	0	0	0	1	0	5	1	4	0	7	2	2	2	7	2	1	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:48919470C>T	uc010slu.2	+	0	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						GGGCTGTCTGCCGACCCCAAC	0.512													T	48919470	C	T	48919470	3	4	216	1	0	0	0	0	1	0	0	0	11322	739	26	2	58	2	OR8S1	12	48919470	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	24870684	48919470	84932425	35	14825											
ADCY6	112	broad.mit.edu	37	chr12	49177053	49177053	+	Silent	SNP	G	G	T																															cgaggggggcccgcaggggtGgggctgggtggctctgcatc																										TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177053G>T	uc001rsh.4	-	0	825	c.165C>A	c.(163-165)ccC>ccA	p.P55P	ADCY6_uc001rsi.4_Silent_p.P55P|ADCY6_uc001rsj.4_Silent_p.P55P	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	55					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding	p.P55A(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						CCGCAGGGGTGGGGCTGGGTG	0.726													T	49177053	G	T	49177053	2	4	216	1	0	0	0	0	0	0	0	1	298	1335	47	4		4	ADCY6	12	49177053	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	257583	49177053	84674842	36	14826	18	2									
ADCY6	112	broad.mit.edu	37	chr12	49177063	49177063	+	Missense_Mutation	SNP	G	G	A																															ccgcaggggtggggctgggtGgctctgcatcccggaggcag																										TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:49177063G>A	uc001rsh.4	-	0	815	c.155C>T	c.(154-156)cCa>cTa	p.P52L	ADCY6_uc001rsi.4_Missense_Mutation_p.P52L|ADCY6_uc001rsj.4_Missense_Mutation_p.P52L	NM_015270	NP_056085	O43306	ADCY6_HUMAN	Homo sapiens adenylate cyclase 6 (ADCY6), transcript variant 1, mRNA.	52					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane	ATP binding|metal ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(16)|prostate(1)|skin(1)|urinary_tract(1)	29						GGGGCTGGGTGGCTCTGCATC	0.716													A	49177063	G	A	49177063	3	1	216	1	0	0	0	0	1	0	0	0	298	1348	47	2	3435	2	ADCY6	12	49177063	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	10	49177063	84674832	37	14827	18	2									
CEP290	80184	broad.mit.edu	37	chr12	88505570	88505570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttcttccggtaagctgAtcaacttgggctttcaaatg	9	15	8	9	1	4	1	3	1	1	0	5	1	5	1	1	2	2	3	1	2	3	5			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:88505570A>G	uc001tar.3	-	20	2462	c.2118T>C	c.(2116-2118)gaT>gaC	p.D706D	CEP290_uc001tat.3_Silent_p.D499D|CEP290_uc009zsl.1_Non-coding_Transcript	NM_025114	NP_079390	O15078	CE290_HUMAN	Homo sapiens centrosomal protein 290kDa (CEP290), mRNA.	706					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CGGTAAGCTGATCAACTTGGG	0.368													G	88505570	A	G	88505570	2	3	216	1	0	0	0	0	0	0	0	1	3283	330	12	3		3	CEP290	12	88505570	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	39328507	88505570	45346325	38	14828											
ARL1	400	broad.mit.edu	37	chr12	101796696	101796696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaatttaaggtttttgtaCgtcaccgtctctacattaaa	11	16	7	7	2	2	0	1	0	1	0	3	1	2	1	1	2	2	2	1	2	6	7			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr12:101796696C>T	uc001tib.3	-	2	320	c.171G>A	c.(169-171)acG>acA	p.T57T	ARL1_uc010svn.2_Silent_p.T11T|ARL1_uc010svo.2_Non-coding_Transcript	NM_001177	NP_001168	P40616	ARL1_HUMAN	Homo sapiens ADP-ribosylation factor-like 1 (ARL1), mRNA.	57					small GTPase mediated signal transduction	Golgi membrane	enzyme activator activity|GTP binding|GTPase activity|metal ion binding|protein binding	p.T57T(1)		central_nervous_system(1)|upper_aerodigestive_tract(1)	2		Lung NSC(355;2.1e-05)|Breast(359;0.00015)|Myeloproliferative disorder(1001;0.163)		GBM - Glioblastoma multiforme(134;1.67e-09)|BRCA - Breast invasive adenocarcinoma(302;0.0125)		GGTTTTTGTACGTCACCGTCT	0.358													T	101796696	C	T	101796696	2	4	216	1	0	0	0	0	0	0	0	1	928	523	19	1		1	ARL1	12	101796696	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	13291126	101796696	32055199	39	14829											
SACS	26278	broad.mit.edu	37	chr13	23911703	23911703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatggcaaaaccaaaggatgCccctccaaggaacaaggaat	17	4	10	10	0	0	0	0	0	0	0	1	4	1	3	4	4	3	1	4	4	7	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr13:23911703C>T	uc001uon.2	-	9	6901	c.6312G>A	c.(6310-6312)ggG>ggA	p.G2104G	SACS_uc001uoo.2_Silent_p.G1957G|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	2104					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.Q2104E(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CCAAAGGATGCCCCTCCAAGG	0.403													T	23911703	C	T	23911703	2	4	216	1	0	0	0	0	0	0	0	1	13895	726	26	2		2	SACS	13	23911703	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		23911703	91258175	40	14830											
HEATR5A	25938	broad.mit.edu	37	chr14	31816973	31816973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcacatcaggagaagtgCtgtcctgcgccaaagtataa	12	8	10	11	1	1	1	1	0	0	1	2	2	2	1	3	1	3	3	3	1	4	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:31816973C>T	uc001wrf.4	-	18	3034	c.2849G>A	c.(2848-2850)aGc>aAc	p.S950N	HEATR5A_uc010ami.3_Missense_Mutation_p.S555N|HEATR5A_uc001wrg.1_Missense_Mutation_p.S539N|HEATR5A_uc010tpk.1_Missense_Mutation_p.S950N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	944							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		AGGAGAAGTGCTGTCCTGCGC	0.383													T	31816973	C	T	31816973	3	4	216	1	0	0	0	0	1	0	0	0	7086	797	28	2	3363	2	HEATR5A	14	31816973	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		31816973	75532567	41	14831											
GPR132	29933	broad.mit.edu	37	chr14	105518249	105518249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggtagacggccagcacGttgccctgcagtacctgcag	9	6	13	13	2	0	1	0	0	0	1	0	1	0	1	3	2	6	7	3	2	2	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr14:105518249G>A	uc001yqd.3	-	3	1124	c.225C>T	c.(223-225)aaC>aaT	p.N75N	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Silent_p.N66N	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	75					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CGGCCAGCACGTTGCCCTGCA	0.647													A	105518249	G	A	105518249	2	1	216	1	0	0	0	0	0	0	0	1	6696	1136	40	1		1	GPR132	14	105518249	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	73701276	105518249	1831291	42	14832											
C15orf55	256646	broad.mit.edu	37	chr15	34640826	34640826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgttacaaagccttggccCggaggcacctatcccagagt	10	7	11	13	2	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	3	3	rs138533937		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:34640826C>T	uc010ucc.2	+	2	1139	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	C15orf55_uc010ucd.2_Missense_Mutation_p.R243W|C15orf55_uc001zif.3_Missense_Mutation_p.R225W	NM_175741	NP_786883	Q86Y26	NUT_HUMAN	Homo sapiens chromosome 15 open reading frame 55 (C15orf55), mRNA.	225						cytoplasm|nucleus			BRD4_ENST00000263377/C15orf55(24)|BRD3/C15orf55(3)	large_intestine(2)|ovary(3)|skin(2)	7		all_lung(180;2.78e-08)		all cancers(64;4.53e-18)|GBM - Glioblastoma multiforme(113;8.29e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0249)		AGCCTTGGCCCGGAGGCACCT	0.483			T	"BRD3, BRD4"	lethal midline carcinoma								T	34640826	C	T	34640826	3	4	216	1	0	0	0	0	1	0	0	0	1816	643	23	1	679	1	C15orf55	15	34640826	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		34640826	67890566	43	14833											
TRPM7	54822	broad.mit.edu	37	chr15	50935595	50935595	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaactgcagctttaataagAccttttccaagcaactgctt	12	13	6	10	0	0	1	0	0	0	1	1	1	1	1	2	0	6	5	2	0	5	7			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:50935595A>G	uc001zyt.4	-	4	759	c.477T>C	c.(475-477)ggT>ggC	p.G159G	TRPM7_uc010bew.2_Silent_p.G159G	NM_017672	NP_060142	Q96QT4	TRPM7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 7 (TRPM7), mRNA.	159					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CTTTAATAAGACCTTTTCCAA	0.383													G	50935595	A	G	50935595	2	3	216	1	0	0	0	0	0	0	0	1	16692	262	10	3		3	TRPM7	15	50935595	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	16294769	50935595	51595797	44	14834											
KIF7	374654	broad.mit.edu	37	chr15	90189143	90189143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcaggtgtaaggtccGcctgggcggctcctcctcct	3	9	13	16	3	0	0	0	0	0	0	4	0	4	0	6	4	1	3	6	4	1	1	rs150543610		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr15:90189143G>A	uc002bof.2	-	7	1980	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	KIF7_uc010upw.1_Missense_Mutation_p.R122W	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	635					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TGTAAGGTCCGCCTGGGCGGc	0.652													A	90189143	G	A	90189143	3	1	216	1	0	0	0	0	1	0	0	0	8367	1086	38	1	2176	1	KIF7	15	90189143	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	39253548	90189143	12342249	45	14835											
UMOD	7369	broad.mit.edu	37	chr16	20357616	20357616	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgacaccttcatgtcAttggccccacattccagcct	8	9	6	18	1	2	0	2	0	0	0	3	1	3	0	6	1	2	0	6	1	0	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr16:20357616A>T	uc002dhb.3	-	5	1242	c.1113T>A	c.(1111-1113)aaT>aaA	p.N371K	UMOD_uc002dgz.3_Missense_Mutation_p.N338K|UMOD_uc002dha.3_Missense_Mutation_p.N338K	NM_003361	NP_003352	P07911	UROM_HUMAN	Homo sapiens uromodulin (UMOD), transcript variant 1, mRNA.	338	ZP.				cellular defense response|negative regulation of cell proliferation	anchored to membrane|apical plasma membrane|basolateral plasma membrane|cilium membrane|extrinsic to membrane|primary cilium|spindle pole	calcium ion binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(20)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCTTCATGTCATTGGCCCCAC	0.557													T	20357616	A	T	20357616	3	4	216	1	0	0	0	0	1	0	0	0	17081	214	8	5	936	5	UMOD	16	20357616	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		20357616	69997137	46	14836											
TP53	7157	broad.mit.edu	37	chr17	7577535	7577535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggtgaggatgggcCtccggttcatgccgcccatg	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs67185453		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7577535C>A	uc002gim.2	-	6	940	c.746G>T	c.(745-747)aGg>aTg	p.R249M	TP53_uc002gig.1_Missense_Mutation_p.R249M|TP53_uc002gih.3_Missense_Mutation_p.R249M|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117M|TP53_uc010cnf.1_Missense_Mutation_p.R117M|TP53_uc002gii.1_Missense_Mutation_p.R117M|TP53_uc010cni.1_Missense_Mutation_p.R249M|TP53_uc010cnh.1_Missense_Mutation_p.R249M|TP53_uc002gij.2_Missense_Mutation_p.R249M|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156M|TP53_uc002gio.2_Missense_Mutation_p.R117M|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(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)		GAGGATGGGCCTCCGGTTCAT	0.567		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)			A	7577535	C	A	7577535	3	1	216	1	0	0	0	0	1	0	0	0	16482	681	24	4	544	4	TP53	17	7577535	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		7577535	73617675	47	14837											
CHD3	1107	broad.mit.edu	37	chr17	7811263	7811263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcctcgagatgagccacGgtccaatgggcgacgagagg	10	4	17	10	4	0	3	0	1	0	2	2	6	1	3	3	4	1	0	3	4	1	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:7811263G>A	uc002gjd.2	+	33	5257	c.5255G>A	c.(5254-5256)cGg>cAg	p.R1752Q	CHD3_uc002gje.2_Missense_Mutation_p.R1693Q|CHD3_uc002gjf.2_Missense_Mutation_p.R1659Q|CHD3_uc002gjh.2_Missense_Mutation_p.R270Q|CHD3_uc002gjj.2_5'Flank	NM_001005271	NP_001005271	Q12873	CHD3_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 3 (CHD3), transcript variant 3, mRNA.	1693	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				GATGAGCCACGGTCCAATGGG	0.567													A	7811263	G	A	7811263	3	1	216	1	0	0	0	0	1	0	0	0	3356	1116	39	1	5493	1	CHD3	17	7811263	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08	233728	7811263	73383947	48	14838											
MYH2	4620	broad.mit.edu	37	chr17	10428377	10428377	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctcttcatgttcaagAgatgccttaatgacagcaag	11	13	7	10	0	3	2	2	1	1	1	4	3	4	2	2	0	2	2	2	0	3	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:10428377A>G	uc010coi.3	-	33	4796	c.4668T>C	c.(4666-4668)tcT>tcC	p.S1556S	AK097500_uc002gml.1_Intron|MYH2_uc002gmp.4_Silent_p.S1556S|MYH2_uc010coj.3_Intron	NM_001100112	NP_060004	Q9UKX2	MYH2_HUMAN	Homo sapiens myosin, heavy chain 2, skeletal muscle, adult (MYH2), transcript variant 2, mRNA.	1556					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGTTCAAGAGATGCCTTAA	0.388													G	10428377	A	G	10428377	2	3	216	1	0	0	0	0	0	0	0	1	10111	291	11	3		3	MYH2	17	10428377	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	2617114	10428377	70766833	49	14839											
ABCA8	10351	broad.mit.edu	37	chr17	66924136	66924136	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgaaatttgttgctacAatgagatttgagccgtccga	13	12	9	7	2	0	3	0	3	0	1	1	5	1	3	2	0	4	2	2	0	4	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr17:66924136A>T	uc002jhq.3	-	9	1534	c.1194T>A	c.(1192-1194)atT>atA	p.I398I	ABCA8_uc002jhp.3_Silent_p.I398I|ABCA8_uc010wqq.2_Silent_p.I398I|ABCA8_uc010wqr.2_Silent_p.I337I|ABCA8_uc002jhr.3_Silent_p.I398I	NM_007168	NP_009099	O94911	ABCA8_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 8 (ABCA8), mRNA.	398						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TTGTTGCTACAATGAGATTTG	0.328													T	66924136	A	T	66924136	2	4	216	1	0	0	0	0	0	0	0	1	38	126	5	5		5	ABCA8	17	66924136	Silent	SNP	A	TCGA-28-5216-01A-01D-1486-08	56495759	66924136	14271074	50	14840											
DSG3	1830	broad.mit.edu	37	chr18	29052349	29052349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcagaaggaacaattcAtcagtggggaattgaaggag	14	8	14	5	0	3	2	3	1	0	1	3	5	3	5	0	5	1	1	0	5	5	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr18:29052349A>G	uc002kws.3	+	12	2109	c.2000A>G	c.(1999-2001)cAt>cGt	p.H667R	DSG3_uc002kwt.3_5'Flank	NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	667					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			GGAACAATTCATCAGTGGGGA	0.448													G	29052349	A	G	29052349	3	3	216	1	0	0	0	0	1	0	0	0	4817	217	8	3	2050	3	DSG3	18	29052349	Missense_Mutation	SNP	A	TCGA-28-5216-01A-01D-1486-08		29052349	49024899	51	14841											
ZFR2	23217	broad.mit.edu	37	chr19	3823274	3823274	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattccgggcccaccggctgCgcatcagagcagcccgcggg	6	5	14	16	5	1	1	1	0	0	1	2	1	2	1	4	3	3	3	4	3	1	2			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:3823274C>A	uc002lyw.2	-	7	1353	c.1341G>T	c.(1339-1341)gcG>gcT	p.A447A	ZFR2_uc010xhx.1_Non-coding_Transcript	NM_015174	NP_055989	Q9UPR6	ZFR2_HUMAN	Homo sapiens zinc finger RNA binding protein 2 (ZFR2), transcript variant 1, mRNA.	447						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCACCGGCTGCGCATCAGAGC	0.622													A	3823274	C	A	3823274	2	1	216	1	0	0	0	0	0	0	0	1	17761	755	27	4		4	ZFR2	19	3823274	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08		3823274	55305709	52	14842											
RFX1	5989	broad.mit.edu	37	chr19	14079442	14079442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccgtgctcggctgctgcCccaccgccacgccgttggtc	2	7	12	20	5	0	0	0	0	0	0	2	0	0	0	7	2	3	4	7	2	0	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:14079442C>T	uc002mxv.3	-	11	1939	c.1667G>A	c.(1666-1668)gGg>gAg	p.G556E		NM_002918	NP_002909	P22670	RFX1_HUMAN	Homo sapiens regulatory factor X, 1 (influences HLA class II expression) (RFX1), mRNA.	556					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			CGGCTGCTGCCCCACCGCCAC	0.662													T	14079442	C	T	14079442	3	4	216	1	0	0	0	0	1	0	0	0	13350	623	22	2	1312	2	RFX1	19	14079442	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	10256168	14079442	45049541	53	14843											
CPAMD8	27151	broad.mit.edu	37	chr19	17013524	17013524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccgctgggtcatcatcGtcagctgggggccagtctcc	4	9	14	14	3	4	0	3	0	1	0	7	0	4	0	3	4	1	2	3	4	0	0			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:17013524G>A	uc002nfb.3	-	34	4793	c.4761C>T	c.(4759-4761)gaC>gaT	p.D1587D	CPAMD8_uc002nfd.1_Silent_p.D52D	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1540						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGTCATCATCGTCAGCTGGGG	0.662													A	17013524	G	A	17013524	2	1	216	1	0	0	0	0	0	0	0	1	3826	1136	40	1		1	CPAMD8	19	17013524	Silent	SNP	G	TCGA-28-5216-01A-01D-1486-08	2934082	17013524	42115459	54	14844											
CEACAM20	125931	broad.mit.edu	37	chr19	45021085	45021085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgcagttgtagatcccgtCgtgttcccaggtcagagccc	6	11	12	12	2	1	2	1	0	0	2	4	2	3	2	3	1	2	4	3	1	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:45021085C>T	uc010ejn.1	-	5	1247	c.1231G>A	c.(1231-1233)Gac>Aac	p.D411N	CEACAM20_uc010ejo.1_Missense_Mutation_p.D411N|CEACAM20_uc010ejp.1_Intron|CEACAM20_uc010ejq.1_Intron	NM_001102597	NP_001096067	Q6UY09	CEA20_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 20 (CEACAM20), transcript variant 5L, mRNA.	411	Ig-like C2-type 4.					integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				TAGATCCCGTCGTGTTCCCAG	0.592													T	45021085	C	T	45021085	3	4	216	1	0	0	0	0	1	0	0	0	3221	884	31	1	588	1	CEACAM20	19	45021085	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08	28007561	45021085	14107898	55	14845											
VN1R2	317701	broad.mit.edu	37	chr19	53761868	53761868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcttgtctctgcacaCggagagaaacccaccaaacc	12	7	6	16	1	2	1	0	0	2	1	4	3	2	2	3	1	3	1	3	1	2	1			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr19:53761868C>T	uc002qbi.2	+	0	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856	NP_776255	Q8NFZ6	VN1R2_HUMAN	Homo sapiens vomeronasal 1 receptor 2 (VN1R2), mRNA.	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458													T	53761868	C	T	53761868	2	4	216	1	0	0	0	0	0	0	0	1	17281	535	19	1		1	VN1R2	19	53761868	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	8740783	53761868	5367115	56	14846											
MMP9	4318	broad.mit.edu	37	chr20	44639814	44639814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggaaacgcagatggcGcggcctgccacttccccttc	6	9	12	14	3	0	1	0	0	0	1	2	2	1	2	4	4	2	2	4	4	1	3			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:44639814G>A	uc002xqz.3	+	4	701	c.682G>A	c.(682-684)Gcg>Acg	p.A228T		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	228	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding	p.A228A(1)		breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	CGCAGATGGCGCGGCCTGCCA	0.637													A	44639814	G	A	44639814	3	1	216	1	0	0	0	0	1	0	0	0	9745	1087	38	1	700	1	MMP9	20	44639814	Missense_Mutation	SNP	G	TCGA-28-5216-01A-01D-1486-08		44639814	18385706	57	14847											
SALL4	57167	broad.mit.edu	37	chr20	50408434	50408434	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggagtgcatccgcgctCcgctgattcaccgccacctt	6	8	11	16	4	1	1	1	1	0	0	3	2	3	2	5	1	1	4	5	1	0	2	rs143754390		TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chr20:50408434C>A	uc002xwh.4	-	1	689	c.588G>T	c.(586-588)cgG>cgT	p.R196R	SALL4_uc010gii.3_Silent_p.R196R|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	196					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCCGCGCTCCGCTGATTCA	0.602													A	50408434	C	A	50408434	2	1	216	1	0	0	0	0	0	0	0	1	13904	842	30	4		4	SALL4	20	50408434	Silent	SNP	C	TCGA-28-5216-01A-01D-1486-08	5768620	50408434	12617086	58	14848											
CXorf65	158830	broad.mit.edu	37	chrX	70325861	70325861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctctacctggtggcccaCgttccaccttacaaacgtag	9	9	8	15	2	1	0	0	0	1	0	2	0	2	0	5	2	4	2	5	2	4	4			TCGA-28-5216-01A-01D-1486-08	TCGA-28-5216-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cde8518a-ce8e-4b54-ab21-5ad4171ab1b3	bae34d9f-b8be-488d-8c8f-bcc0119d1325	g.chrX:70325861C>T	uc011mpo.2	-	2	471	c.239G>A	c.(238-240)cGt>cAt	p.R80H	CXorf65_uc011mpp.2_Missense_Mutation_p.R32H	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	80										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TGGTGGCCCACGTTCCACCTT	0.453													T	70325861	C	T	70325861	3	4	216	1	0	0	0	0	1	0	0	0	4150	536	19	1	328	1	CXorf65	23	70325861	Missense_Mutation	SNP	C	TCGA-28-5216-01A-01D-1486-08		70325861	84944699	59	14849											
ZBTB40	9923	broad.mit.edu	37	chr1	22835047	22835047	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagcttgtgaaacgtGactctggttcaggtggtttc	8	13	14	6	1	2	3	1	2	1	1	3	4	2	3	0	4	2	3	0	4	2	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:22835047G>T	uc001bft.2	+	8	2033	c.1522G>T	c.(1522-1524)Gac>Tac	p.D508Y	ZBTB40_uc001bfu.2_Missense_Mutation_p.D508Y|ZBTB40_uc009vqi.1_Missense_Mutation_p.D396Y|ZBTB40_uc001bfv.1_Missense_Mutation_p.D137Y	NM_001083621	NP_055685	Q9NUA8	ZBT40_HUMAN	Homo sapiens zinc finger and BTB domain containing 40 (ZBTB40), transcript variant 1, mRNA.	508					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTGAAACGTGACTCTGGTTC	0.483													T	22835047	G	T	22835047	3	4	217	1	0	0	0	0	1	0	0	0	17643	1290	45	4	1548	4	ZBTB40	1	22835047	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		22835047	226415574	1	14850											
HMCN1	83872	broad.mit.edu	37	chr1	186121993	186121993	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagtcacctgctgaagTcactgtaaaggtaaaatgcc	12	10	9	10	0	3	1	3	1	0	0	3	1	3	1	2	1	2	4	2	1	5	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:186121993T>G	uc001grq.1	+	95	15237	c.15008T>G	c.(15007-15009)gTc>gGc	p.V5003G	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.V572G	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5003	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCTGCTGAAGTCACTGTAAAG	0.438													G	186121993	T	G	186121993	3	3	217	1	0	0	0	0	1	0	0	0	7275	1667	58	5	15390	5	HMCN1	1	186121993	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	163286946	186121993	63128628	2	14851											
OBSCN	84033	broad.mit.edu	37	chr1	228559651	228559651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcagttgccccatgccctCctggctccttccctccagga	5	9	8	19	0	0	0	0	0	0	0	4	1	4	1	7	2	3	3	7	2	0	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:228559651C>T	uc009xez.1	+	93	21216	c.21172C>T	c.(21172-21174)Cct>Tct	p.P7058S	OBSCN_uc001hsr.1_Missense_Mutation_p.P1687S	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7058	Pro-rich.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCATGCCCTCCTGGCTCCTT	0.672													T	228559651	C	T	228559651	3	4	217	1	0	0	0	0	1	0	0	0	10888	855	30	2	22752	2	OBSCN	1	228559651	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	42437658	228559651	20690970	3	14852											
KIAA1804	84451	broad.mit.edu	37	chr1	233518426	233518426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaccagccggccatctaTatatgaactggagaaagaat	17	7	8	9	1	1	3	0	1	1	2	1	4	1	3	3	2	3	0	3	2	8	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr1:233518426T>C	uc001hvt.4	+	9	3341	c.3080T>C	c.(3079-3081)aTa>aCa	p.I1027T	KIAA1804_uc001hvu.4_Missense_Mutation_p.I473T	NM_032435	NP_115811	Q5TCX8	M3KL4_HUMAN	Homo sapiens mixed lineage kinase 4 (KIAA1804), mRNA.	1027					activation of JUN kinase activity|protein autophosphorylation		ATP binding|MAP kinase kinase kinase activity|protein homodimerization activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|large_intestine(18)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(4)	52		all_cancers(173;0.000405)|all_epithelial(177;0.0345)|Prostate(94;0.122)				CGGCCATCTATATATGAACTG	0.428													C	233518426	T	C	233518426	3	2	217	1	0	0	0	0	1	0	0	0	8317	1406	49	3	3118	3	KIAA1804	1	233518426	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	4958775	233518426	15732195	4	14853											
FIGN	55137	broad.mit.edu	37	chr2	164467616	164467616	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacggatagctgtaactggaGaggttagaagtcccattgta	12	10	13	6	1	0	2	0	0	0	2	1	5	1	3	1	3	2	4	1	3	5	5			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr2:164467616G>A	uc002uck.1	-	2	1037	c.726C>T	c.(724-726)ctC>ctT	p.L242L		NM_018086	NP_060556	Q5HY92	FIGN_HUMAN	Homo sapiens fidgetin (FIGN), mRNA.	242	Pro-rich.					nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TGTAACTGGAGAGGTTAGAAG	0.612													A	164467616	G	A	164467616	2	1	217	1	0	0	0	0	0	0	0	1	5940	929	33	2		2	FIGN	2	164467616	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08		164467616	78731757	5	14854											
SENP5	205564	broad.mit.edu	37	chr3	196613120	196613120	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagtgccacaaacgcctgGgaccagtcatcctgttcttc	8	9	10	14	1	2	0	1	0	1	0	4	1	3	1	4	2	2	2	4	2	1	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr3:196613120G>A	uc003fwz.4	+	1	1317	c.1068G>A	c.(1066-1068)tgG>tgA	p.W356*	SENP5_uc011bty.2_Nonsense_Mutation_p.W356*	NM_152699	NP_689912	Q96HI0	SENP5_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 5 (SENP5), mRNA.	356					cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		CAAACGCCTGGGACCAGTCAT	0.468													A	196613120	G	A	196613120	4	1	217	1	0	0	0	0	0	1	0	0	14142	1241	43	2	1070	2	SENP5	3	196613120	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		196613120	1409310	6	14855											
OR2J2	26707	broad.mit.edu	37	chr6	29142195	29142195	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccagtcatgtgcatgtatctCcagccaccatcagaaaattc	12	10	6	13	0	3	1	2	0	1	1	5	1	3	1	4	0	2	2	4	0	3	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr6:29142195C>G	uc011dlm.2	+	0	885	c.783C>G	c.(781-783)ctC>ctG	p.L261L		NM_030905	NP_112167	O76002	OR2J2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 2 (OR2J2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(17)|ovary(1)|upper_aerodigestive_tract(1)	25						GCATGTATCTCCAGCCACCAT	0.433													G	29142195	C	G	29142195	2	3	217	1	0	0	0	0	0	0	0	1	11079	842	30	4		4	OR2J2	6	29142195	Silent	SNP	C	TCGA-28-5218-01A-01D-1486-08		29142195	141972872	7	14856											
MUC17	140453	broad.mit.edu	37	chr7	100677921	100677921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcacacctgtgaccaCttattctcaagccagttcat	11	10	5	15	0	2	1	2	1	1	0	3	1	2	1	4	0	2	2	4	0	2	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:100677921C>T	uc003uxp.1	+	2	3277	c.3224C>T	c.(3223-3225)aCt>aTt	p.T1075I	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	1075	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)					CCTGTGACCACTTATTCTCAA	0.488													T	100677921	C	T	100677921	3	4	217	1	0	0	0	0	1	0	0	0	10050	565	20	2	3234	2	MUC17	7	100677921	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		100677921	58460742	8	14857											
EPHA1	2041	broad.mit.edu	37	chr7	143098437	143098437	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggaacaagggccgtcGgagctgaatgcccacatcct	9	8	11	13	2	1	1	0	1	1	0	3	3	2	3	3	3	3	1	3	3	3	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr7:143098437G>A	uc003wcz.3	-	2	499	c.412C>T	c.(412-414)Cga>Tga	p.R138*		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	138						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				AAGGGCCGTCGGAGCTGAATG	0.592													A	143098437	G	A	143098437	4	1	217	1	0	0	0	0	0	1	0	0	5206	1124	39	1	2582	1	EPHA1	7	143098437	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	42420516	143098437	16040226	9	14858											
ATP6V1C1	528	broad.mit.edu	37	chr8	104075258	104075258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgatgacttcagacaCaaagccagagaaaacaagta	18	6	9	8	0	1	4	1	2	0	2	1	5	1	4	1	0	2	3	1	0	5	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:104075258C>G	uc003ykz.4	+	8	962	c.717C>G	c.(715-717)caC>caG	p.H239Q	ATP6V1C1_uc010mbz.3_Missense_Mutation_p.H164Q|ATP6V1C1_uc003yla.3_Missense_Mutation_p.H239Q|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.H164Q	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	239					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			ACTTCAGACACAAAGCCAGAG	0.328													G	104075258	C	G	104075258	3	3	217	1	0	0	0	0	1	0	0	0	1185	477	17	4	747	4	ATP6V1C1	8	104075258	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		104075258	42288764	10	14859											
LRRC6	23639	broad.mit.edu	37	chr8	133645122	133645122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttaagacagtgatctttttCctgctctctgatttgtggtt	6	20	8	7	0	2	3	0	2	2	1	4	3	3	3	1	1	1	2	1	1	1	6			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr8:133645122C>T	uc003ytk.3	-	4	591	c.517G>A	c.(517-519)Gaa>Aaa	p.E173K	LRRC6_uc022bbp.1_Missense_Mutation_p.E173K|LRRC6_uc003ytl.3_Non-coding_Transcript	NM_012472	NP_036604	Q86X45	LRRC6_HUMAN	Homo sapiens leucine rich repeat containing 6 (LRRC6), mRNA.	173						cytoplasm				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|urinary_tract(2)	34	Ovarian(258;0.00352)|Esophageal squamous(12;0.00507)|all_neural(3;0.0052)|Medulloblastoma(3;0.0922)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGATCTTTTTCCTGCTCTCTG	0.398													T	133645122	C	T	133645122	3	4	217	1	0	0	0	0	1	0	0	0	9086	864	30	2	915	2	LRRC6	8	133645122	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	29569864	133645122	12718900	11	14860											
CDKN2B	1030	broad.mit.edu	37	chr9	22006044	22006044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcggtggccccgctcctcgGccaagtccacgggcagacga	6	4	14	17	6	0	1	0	0	0	1	3	2	2	1	5	4	0	2	5	4	1	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006044G>T	uc003zpo.3	-	1	719	c.359C>A	c.(358-360)gCc>gAc	p.A120D	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	120					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CCGCTCCTCGGCCAAGTCCAC	0.701													T	22006044	G	T	22006044	3	4	217	1	0	0	0	0	1	0	0	0	3194	1203	42	4	61	4	CDKN2B	9	22006044	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		22006044	119207387	12	14861			1	36		2	2	25	N	G_C	2.6359e-05
CDKN2B	1030	broad.mit.edu	37	chr9	22006068	22006068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccacgggcagacgacccCaggcatcgcgcacgtccagc	9	3	12	17	5	0	1	0	0	0	1	3	2	2	1	4	2	1	3	4	2	0	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr9:22006068C>A	uc003zpo.3	-	1	695	c.335G>T	c.(334-336)tGg>tTg	p.W112L	MTAP_uc003zpi.1_Intron|MTAP_uc010miw.1_Intron|CDKN2B-AS1_uc022bed.1_Intron|CDKN2B-AS1_uc022bee.1_Intron|CDKN2B-AS1_uc010mix.1_Intron|CDKN2B-AS1_uc022bef.1_Intron|MTAP_uc003zpm.3_Intron|MTAP_uc022bek.1_Intron|CDKN2B-AS1_uc022beg.1_Intron|CDKN2B-AS1_uc022beh.1_Intron|CDKN2B-AS1_uc022bei.1_Intron|CDKN2B-AS1_uc022bej.1_Intron|CDKN2B-AS1_uc022bel.1_Intron|CDKN2B-AS1_uc022bem.1_Intron|CDKN2B-AS1_uc022ben.1_Intron|CDKN2B_uc003zpn.3_3'UTR	NM_004936	NP_004927	P42772	CDN2B_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4) (CDKN2B), transcript variant 1, mRNA.	112					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CAGACGACCCCAGGCATCGCG	0.726													A	22006068	C	A	22006068	3	1	217	1	0	0	0	0	1	0	0	0	3194	595	21	4	85	4	CDKN2B	9	22006068	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	24	22006068	119207363	13	14862			1	36		2	2	25	N	G_C	2.6359e-05
PTPRE	5791	broad.mit.edu	37	chr10	129861345	129861345	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaattgtcctctacacacAggtcccaaacaggaaacggt	14	7	8	12	2	1	0	0	0	1	0	3	2	3	1	2	3	3	0	2	3	4	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr10:129861345A>T	uc009yat.3	+	11	1076	c.659_splice	c.e11-2	p.G220_splice	PTPRE_uc001lkb.3_Splice_Site_p.G209_splice|PTPRE_uc010qup.1_Splice_Site|PTPRE_uc009yau.2_Splice_Site_p.G209_splice|PTPRE_uc001lkd.3_Splice_Site_p.G151_splice|PTPRE_uc010quq.1_Splice_Site_p.G110_splice	NM_006504	NP_006495	P23469	PTPRE_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, E (PTPRE), transcript variant 1, mRNA.	209	Tyrosine-protein phosphatase 1.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				CTCTACACACAGGTCCCAAAC	0.522													T	129861345	A	T	129861345	5	4	217	1	0	0	0	0	0	0	1	0	12888	202	7	5	693	5	PTPRE	10	129861345	Splice_Site	SNP	A	TCGA-28-5218-01A-01D-1486-08		129861345	5673402	14	14863											
MEN1	4221	broad.mit.edu	37	chr11	64575521	64575521	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccggagacccagggcctGgcaggccccaaccacagcaa	11	2	11	17	1	0	1	0	0	0	1	1	2	1	1	6	4	2	2	6	4	2	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:64575521G>A	uc001obj.3	-	2	584	c.511C>T	c.(511-513)Cag>Tag	p.Q171*	MEN1_uc001obk.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obl.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obm.3_Nonsense_Mutation_p.Q166*|MEN1_uc001obn.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obo.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obq.3_Nonsense_Mutation_p.Q171*|MEN1_uc001obr.3_Nonsense_Mutation_p.Q171*	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	171			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.R171Q(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCCAGGGCCTGGCAGGCCCCA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				A	64575521	G	A	64575521	4	1	217	1	0	0	0	0	0	1	0	0	9547	1357	47	2	1368	2	MEN1	11	64575521	Nonsense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		64575521	70430995	15	14864											
KRTAP5-11	440051	broad.mit.edu	37	chr11	71293418	71293418	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtccagagcctcagaTcttacactggcagcacacgg	9	8	11	13	1	3	2	1	0	2	2	4	2	4	2	2	3	3	2	2	3	1	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71293418T>G	uc001oqu.3	-	0	504	c.466A>C	c.(466-468)Atc>Ctc	p.I156L		NM_001005405	NP_001005405	Q6L8G4	KR511_HUMAN	Homo sapiens keratin associated protein 5-11 (KRTAP5-11), mRNA.	156						keratin filament		p.K155N(1)		endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GAGCCTCAGATCTTACACTGG	0.542													G	71293418	T	G	71293418	3	3	217	1	0	0	0	0	1	0	0	0	8619	1435	50	5	8	5	KRTAP5-11	11	71293418	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	6717897	71293418	63713098	16	14865											
INPPL1	3636	broad.mit.edu	37	chr11	71942586	71942586	+	Frame_Shift_Del	DEL	C	C	-																															atcaaggtggcagtgctggtCaagccagagcacgagaaccg																										TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:71942586delC	uc001osf.3	+	12	1689	c.1542delC	c.(1540-1542)gtcfs	p.V514fs	INPPL1_uc001osg.3_Frame_Shift_Del_p.V272fs	NM_001567	NP_001558	O15357	SHIP2_HUMAN	Homo sapiens inositol polyphosphate phosphatase-like 1 (INPPL1), mRNA.	514					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CAGTGCTGGTCAAGCCAGAGC	0.567													-	71942586	C	-	71942586	7	5	217	1	0	1	0	1	0	0	0	0	7819	813	29	0	1592	0	INPPL1	11	71942586	Frame_Shift_Del	DEL	C	TCGA-28-5218-01A-01D-1486-08	649168	71942586	63063930	17	14866											
RAB30	27314	broad.mit.edu	37	chr11	82693315	82693315	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggcttcactgatgagtcgGcatgctaagtcaaggaagag	11	9	13	8	1	2	3	2	2	0	1	3	4	2	4	0	3	1	3	0	3	3	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:82693315G>A	uc001ozu.3	-	5	765	c.504C>T	c.(502-504)tgC>tgT	p.C168C	RAB30_uc009yve.3_Silent_p.C166C|RAB30_uc010rst.2_Silent_p.C168C|RAB30_uc001ozv.3_3'UTR	NM_014488	NP_055303	Q15771	RAB30_HUMAN	Homo sapiens RAB30, member RAS oncogene family (RAB30), mRNA.	168					protein transport|small GTPase mediated signal transduction	Golgi stack|plasma membrane	GTP binding|GTPase activity			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TGATGAGTCGGCATGCTAAGT	0.438													A	82693315	G	A	82693315	2	1	217	1	0	0	0	0	0	0	0	1	13007	1195	42	2		2	RAB30	11	82693315	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08	10750729	82693315	52313201	18	14867											
SESN3	143686	broad.mit.edu	37	chr11	94924753	94924756	+	Frame_Shift_Del	DEL	TTGC	TTGC	-																															agtacgttcatccactgtgtTtgcttggacaaccttataac																										TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr11:94924753_94924756delTTGC	uc001pfk.1	-	2	376_379	c.154_157delGCAA	c.(154-159)gcaaacfs	p.A52fs	SESN3_uc010rug.1_5'UTR|SESN3_uc001pfl.3_Frame_Shift_Del_p.A52fs	NM_144665	NP_653266	P58005	SESN3_HUMAN	Homo sapiens sestrin 3 (SESN3), mRNA.	52					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TCCACTGTGTTTGCTTGGACAACC	0.368													-	94924756	TTGC	-	94924753	7	5	217	1	0	1	0	1	0	0	0	0	14219	1841	64	0	1353	0	SESN3	11	94924753	Frame_Shift_Del	DEL	TTGC	TCGA-28-5218-01A-01D-1486-08	12231438	94924753	40081763	19	14868											
HELB	92797	broad.mit.edu	37	chr12	66698566	66698566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagtgtttggacgttttccGataacaggtgcttggtggag	9	13	14	5	2	0	0	0	0	0	0	1	3	1	2	1	4	2	3	1	4	2	5			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:66698566G>A	uc001sti.2	+	1	271	c.243G>A	c.(241-243)ccG>ccA	p.P81P	HELB_uc010ssz.1_Non-coding_Transcript|HELB_uc009zqt.1_Non-coding_Transcript	NM_033647	NP_387467	Q8NG08	HELB_HUMAN	Homo sapiens helicase (DNA) B (HELB), mRNA.	81					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GACGTTTTCCGATAACAGGTG	0.378													A	66698566	G	A	66698566	2	1	217	1	0	0	0	0	0	0	0	1	7100	1045	37	1		1	HELB	12	66698566	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08		66698566	67153329	20	14869											
CABP1	9478	broad.mit.edu	37	chr12	121098105	121098105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctacatgcccaccgagatGgagctcatcgaactgtccca	10	7	10	14	2	1	1	1	0	0	1	3	4	2	2	3	2	4	2	3	2	2	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr12:121098105G>A	uc001tyu.3	+	2	859	c.792G>A	c.(790-792)atG>atA	p.M264I	CABP1_uc001tyv.3_Missense_Mutation_p.M121I|CABP1_uc001tyw.3_Missense_Mutation_p.M61I|CABP1_uc001tyx.3_Missense_Mutation_p.M106I	NM_001033677	NP_001028849	Q9NZU7	CABP1_HUMAN	Homo sapiens calcium binding protein 1 (CABP1), transcript variant 3, mRNA.	264	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCACCGAGATGGAGCTCATCG	0.572													A	121098105	G	A	121098105	3	1	217	1	0	0	0	0	1	0	0	0	2557	1348	47	2	1035	2	CABP1	12	121098105	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	54399539	121098105	12753790	21	14870											
HERC2	8924	broad.mit.edu	37	chr15	28389261	28389261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaagctgccagcgaggccGcaaggcgagggacgatgctt	10	4	15	12	4	0	0	0	0	0	0	0	4	0	1	2	3	4	3	2	3	2	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr15:28389261G>A	uc001zbj.3	-	72	11367	c.11261C>T	c.(11260-11262)gCg>gTg	p.A3754V		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	3754					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CAGCGAGGCCGCAAGGCGAGG	0.537													A	28389261	G	A	28389261	3	1	217	1	0	0	0	0	1	0	0	0	7113	1087	38	1	3327	1	HERC2	15	28389261	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08		28389261	74142131	22	14871											
MRPS34	65993	broad.mit.edu	37	chr16	1823074	1823075	+	Frame_Shift_Ins	INS	-	-	G																															ccgcagggcgcgcacgcggcINSgggccagctccgcgatcagc																										TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:1823074_1823075insG	uc002cmo.3	-	0	66_67	c.46_47insC	c.(46-48)cgcfs	p.R16fs	NME3_uc002cmm.3_5'Flank|NME3_uc010brv.3_5'Flank|MRPS34_uc021taj.1_Frame_Shift_Ins_p.R16fs|EME2_uc002cmq.1_5'Flank|EME2_uc010brw.1_5'Flank	NM_023936	NP_076425	P82930	RT34_HUMAN	Homo sapiens mitochondrial ribosomal protein S34 (MRPS34), nuclear gene encoding mitochondrial protein, mRNA.	16						mitochondrion|ribosome	protein binding			breast(1)|skin(2)	3						GCGCACGCGGCGGGCCAGCTCC	0.723													G	1823075	-	G	1823074	7	5	217	1	0	1	1	0	0	0	0	0	9919	768	27	0	621	0	MRPS34	16	1823074	Frame_Shift_Ins	INS	-	TCGA-28-5218-01A-01D-1486-08		1823074	88531679	23	14872											
RNF40	9810	broad.mit.edu	37	chr16	30774843	30774843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggggccaacatgtgatggGactcctctcccagagccggg	8	6	15	12	1	1	2	0	1	1	1	3	4	2	3	4	4	2	0	4	4	1	0			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr16:30774843G>A	uc002dzq.3	+	3	1225	c.405G>A	c.(403-405)ggG>ggA	p.G135G	C16orf93_uc002dzo.3_5'Flank|C16orf93_uc021tgp.1_5'Flank|C16orf93_uc002dzm.3_5'Flank|C16orf93_uc002dzp.3_5'Flank|RNF40_uc010caa.3_Silent_p.G135G|RNF40_uc010cab.3_Silent_p.G135G|RNF40_uc010vfa.2_Intron|RNF40_uc010vfb.2_Intron|RNF40_uc002dzr.3_Silent_p.G135G	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	135					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			CATGTGATGGGACTCCTCTCC	0.612													A	30774843	G	A	30774843	2	1	217	1	0	0	0	0	0	0	0	1	13584	1161	41	2		2	RNF40	16	30774843	Silent	SNP	G	TCGA-28-5218-01A-01D-1486-08	28951769	30774843	59579910	24	14873											
KRTAP1-1	81851	broad.mit.edu	37	chr17	39197186	39197186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccacagtaggatgggCggcagcaggaggcctcggcg	8	5	17	11	3	0	0	0	0	0	0	2	2	1	2	2	6	1	3	2	6	1	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr17:39197186C>T	uc002hvw.1	-	0	528	c.464G>A	c.(463-465)cGc>cAc	p.R155H		NM_030967	NP_112229	Q07627	KRA11_HUMAN	Homo sapiens keratin associated protein 1-1 (KRTAP1-1), mRNA.	155						extracellular region|keratin filament				NS(2)|endometrium(2)|kidney(5)|lung(4)|prostate(1)	14		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GTAGGATGGGCGGCAGCAGGA	0.637													T	39197186	C	T	39197186	3	4	217	1	0	0	0	0	1	0	0	0	8560	768	27	1	73	1	KRTAP1-1	17	39197186	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		39197186	41998024	25	14874											
C19orf10	56005	broad.mit.edu	37	chr19	4668644	4668644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaggcgtaagtgaacataCacgtatatttgtcctagaga	14	10	11	6	2	0	3	0	1	0	2	1	5	1	3	1	1	2	2	1	1	6	6			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:4668644C>T	uc002may.3	-	1	257	c.188G>A	c.(187-189)tGt>tAt	p.C63Y		NM_019107	NP_061980	Q969H8	CS010_HUMAN	Homo sapiens chromosome 19 open reading frame 10 (C19orf10), mRNA.	63						ER-Golgi intermediate compartment|extracellular region				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.015)		AGTGAACATACACGTATATTT	0.413													T	4668644	C	T	4668644	3	4	217	1	0	0	0	0	1	0	0	0	1927	478	17	2	353	2	C19orf10	19	4668644	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		4668644	54460339	26	14875											
ZNF317	57693	broad.mit.edu	37	chr19	9267420	9267420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacacacccagtgttggttCccaggtgcactaagatctct	9	11	8	13	0	2	1	1	0	1	1	4	1	3	1	2	2	1	3	2	2	1	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:9267420C>T	uc002mku.3	+	2	463	c.158C>T	c.(157-159)tCc>tTc	p.S53F	ZNF317_uc010xkm.2_Silent_p.F94F|ZNF317_uc002mkv.3_5'UTR|ZNF317_uc002mkw.3_Missense_Mutation_p.S53F|ZNF317_uc002mkx.3_5'UTR|ZNF317_uc002mky.3_5'UTR	NM_020933	NP_065984	Q96PQ6	ZN317_HUMAN	Homo sapiens zinc finger protein 317 (ZNF317), transcript variant 1, mRNA.	53					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						AGTGTTGGTTCCCAGGTGCAC	0.527													T	9267420	C	T	9267420	3	4	217	1	0	0	0	0	1	0	0	0	17936	855	30	2	164	2	ZNF317	19	9267420	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	4598776	9267420	49861563	27	14876											
MAN2B1	4125	broad.mit.edu	37	chr19	12763065	12763065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcctggtcactttcgttgtCacctatactggcgttgtacc	5	14	10	12	2	2	0	2	0	0	0	3	0	2	0	3	3	2	3	3	3	3	6			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:12763065C>G	uc002mub.2	-	15	2024	c.1948G>C	c.(1948-1950)Gac>Cac	p.D650H	MAN2B1_uc010dyv.1_Missense_Mutation_p.D649H	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	650					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTTTCGTTGTCACCTATACTG	0.597													G	12763065	C	G	12763065	3	3	217	1	0	0	0	0	1	0	0	0	9291	826	29	4	1123	4	MAN2B1	19	12763065	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	3495645	12763065	46365918	28	14877											
TMEM147	10430	broad.mit.edu	37	chr19	36037641	36037641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgtcatgtcccggaatgCcggcaagggagagtacaaga	11	7	13	10	2	1	2	1	0	0	2	2	4	2	3	3	3	2	2	3	3	4	2			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:36037641C>T	uc002oaj.2	+	3	415	c.275C>T	c.(274-276)gCc>gTc	p.A92V	AX747325_uc002oag.3_5'Flank|AX747325_uc021usq.1_5'Flank|TMEM147_uc002oai.2_Missense_Mutation_p.A43V|TMEM147_uc021usr.1_Intron	NM_032635	NP_001229526	Q9BVK8	TM147_HUMAN	Homo sapiens transmembrane protein 147 (TMEM147), transcript variant 1, mRNA.	92						endoplasmic reticulum membrane|integral to membrane	protein binding	p.A92V(2)|p.A92A(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(1)	6	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCCCGGAATGCCGGCAAGGGA	0.572													T	36037641	C	T	36037641	3	4	217	1	0	0	0	0	1	0	0	0	16161	739	26	2	289	2	TMEM147	19	36037641	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08	23274576	36037641	23091342	29	14878											
EXOSC5	56915	broad.mit.edu	37	chr19	41895788	41895788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccaatgccatgcaggcgGcattcagacaacaggccagg	12	4	11	14	1	1	1	1	0	0	1	1	1	1	1	4	4	3	2	4	4	2	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:41895788G>A	uc002oqo.3	-	3	430	c.407C>T	c.(406-408)gCc>gTc	p.A136V	BCKDHA_uc002oqm.4_Intron	NM_020158	NP_064543	Q9NQT4	EXOS5_HUMAN	Homo sapiens exosome component 5 (EXOSC5), mRNA.	136					DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	7						CATGCAGGCGGCATTCAGACA	0.552													A	41895788	G	A	41895788	3	1	217	1	0	0	0	0	1	0	0	0	5359	1203	42	2	312	2	EXOSC5	19	41895788	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	5858147	41895788	17233195	30	14879											
NLRP5	126206	broad.mit.edu	37	chr19	56539217	56539217	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggctgtggagggagtgTggaataggaagtcagtgttt	9	12	18	2	0	1	0	1	0	0	0	1	4	1	4	0	5	0	3	0	5	4	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr19:56539217T>A	uc002qmj.3	+	6	1618	c.1618T>A	c.(1618-1620)Tgg>Agg	p.W540R	NLRP5_uc002qmi.3_Missense_Mutation_p.W521R	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	540	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GGAGGGAGTGTGGAATAGGAA	0.552													A	56539217	T	A	56539217	3	1	217	1	0	0	0	0	1	0	0	0	10556	1696	59	5	1644	5	NLRP5	19	56539217	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08	14643429	56539217	2589766	31	14880											
SNRPB	6628	broad.mit.edu	37	chr20	2443779	2443779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtgggggaggacccccaCggccaggtgggtactgggtt	6	7	19	9	1	0	0	0	0	0	0	0	2	0	2	3	8	1	2	3	8	2	3			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chr20:2443779C>T	uc002wfz.1	-	4	678	c.515G>A	c.(514-516)cGt>cAt	p.R172H	SNRPB_uc002wga.1_Missense_Mutation_p.R172H|SNRPB_uc010zpv.2_Missense_Mutation_p.R93H|SNRPB_uc002wgb.3_Missense_Mutation_p.R172H|SNORD119_uc010gam.1_5'Flank	NM_198216	NP_937859	P14678	RSMB_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptides B and B1 (SNRPB), transcript variant 1, mRNA.	172				RG -> L (in Ref. 4).	histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						AGGACCCCCACGGCCAGGTGG	0.597													T	2443779	C	T	2443779	3	4	217	1	0	0	0	0	1	0	0	0	14955	536	19	1	234	1	SNRPB	20	2443779	Missense_Mutation	SNP	C	TCGA-28-5218-01A-01D-1486-08		2443779	60581741	32	14881											
OTC	5009	broad.mit.edu	37	chrX	38260629	38260629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccaattatcaatgggcTgtcagatttgtaccatccta	11	13	6	11	0	2	1	2	0	0	1	4	1	4	1	3	1	1	2	3	1	5	4			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:38260629T>C	uc004def.4	+	4	702	c.488T>C	c.(487-489)cTg>cCg	p.L163P		NM_000531	NP_000522	P00480	OTC_HUMAN	Homo sapiens ornithine carbamoyltransferase (OTC), nuclear gene encoding mitochondrial protein, mRNA.	163					arginine biosynthetic process|urea cycle	mitochondrial matrix|ornithine carbamoyltransferase complex	ornithine carbamoyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22					L-Citrulline(DB00155)|L-Ornithine(DB00129)	ATCAATGGGCTGTCAGATTTG	0.408													C	38260629	T	C	38260629	3	2	217	1	0	0	0	0	1	0	0	0	11377	1580	55	3	506	3	OTC	23	38260629	Missense_Mutation	SNP	T	TCGA-28-5218-01A-01D-1486-08		38260629	117009931	33	14882											
HUWE1	10075	broad.mit.edu	37	chrX	53569470	53569470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgggtgattcctccctccGgacagacgcctctgactggc	6	9	11	15	2	1	3	0	2	1	1	4	4	4	4	4	3	0	0	4	3	0	1			TCGA-28-5218-01A-01D-1486-08	TCGA-28-5218-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68008a98-3889-4dd2-bcf9-f1f6cbca6355	727e8e46-718d-4e44-96a1-ed3544500a07	g.chrX:53569470G>A	uc004dsp.3	-	73	11812	c.11410C>T	c.(11410-11412)Cgg>Tgg	p.R3804W	HUWE1_uc004dsn.3_Missense_Mutation_p.R2612W|HUWE1_uc004dsq.1_Missense_Mutation_p.R104W	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3804					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TCCTCCCTCCGGACAGACGCC	0.502													A	53569470	G	A	53569470	3	1	217	1	0	0	0	0	1	0	0	0	7519	1115	39	1	1758	1	HUWE1	23	53569470	Missense_Mutation	SNP	G	TCGA-28-5218-01A-01D-1486-08	15308841	53569470	101701090	34	14883											
GABRD	2563	broad.mit.edu	37	chr1	1957086	1957086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcccgacaccttcatcGtgaacgccaagtcggcctgg	7	7	12	15	4	1	1	1	1	0	0	3	2	1	1	4	3	2	1	4	3	2	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:1957086G>A	uc001aip.2	+	3	474	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_000815	NP_000806	O14764	GBRD_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, delta (GABRD), mRNA.	127						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CACCTTCATCGTGAACGCCAA	0.637													A	1957086	G	A	1957086	3	1	218	1	0	0	0	0	1	0	0	0	6221	1145	40	1	393	1	GABRD	1	1957086	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		1957086	247293535	1	14884											
RERE	473	broad.mit.edu	37	chr1	8419978	8419978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttggccagcttggacccgGccagaggcatgaagtacagg	9	7	14	11	1	1	2	0	1	1	1	1	3	1	3	3	5	2	3	3	5	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8419978G>A	uc001ape.3	-	19	4274	c.3464C>T	c.(3463-3465)gCc>gTc	p.A1155V	RERE_uc001apf.3_Missense_Mutation_p.A1155V|RERE_uc001apd.3_Missense_Mutation_p.A601V	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	1155					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTTGGACCCGGCCAGAGGCAT	0.597													A	8419978	G	A	8419978	3	1	218	1	0	0	0	0	1	0	0	0	13319	1203	42	2	1256	2	RERE	1	8419978	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	6462892	8419978	240830643	2	14885											
RERE	473	broad.mit.edu	37	chr1	8684379	8684379	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgcttaccagtttgaagTcttgaatgctacagatgaaa	15	11	8	7	1	1	4	0	3	1	1	1	4	1	4	1	0	4	3	1	0	6	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:8684379T>G	uc001ape.3	-	3	1196	c.386A>C	c.(385-387)gAc>gCc	p.D129A	RERE_uc001apf.3_Missense_Mutation_p.D129A|RERE_uc001aph.1_Missense_Mutation_p.D129A	NM_012102	NP_036234	Q9P2R6	RERE_HUMAN	Homo sapiens arginine-glutamic acid dipeptide (RE) repeats (RERE), transcript variant 1, mRNA.	129	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.D129V(2)		central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CAGTTTGAAGTCTTGAATGCT	0.383													G	8684379	T	G	8684379	3	3	218	1	0	0	0	0	1	0	0	0	13319	1667	58	5	4398	5	RERE	1	8684379	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	264401	8684379	240566242	3	14886											
KPNA6	23633	broad.mit.edu	37	chr1	32622514	32622514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatgttcgatagtcttCtcatggactcttatgtgagc	7	15	9	10	1	3	1	1	1	3	0	5	3	3	2	1	1	2	1	1	1	2	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:32622514C>A	uc010ogy.2	+	2	241	c.214C>A	c.(214-216)Ctc>Atc	p.L72I	KPNA6_uc001bug.3_Missense_Mutation_p.L67I|KPNA6_uc001buh.3_5'UTR|KPNA6_uc010ogx.2_Missense_Mutation_p.L64I	NM_012316	NP_036448	O60684	IMA7_HUMAN	Homo sapiens karyopherin alpha 6 (importin alpha 7) (KPNA6), mRNA.	67					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			large_intestine(2)	2		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				CGATAGTCTTCTCATGGACTC	0.468													A	32622514	C	A	32622514	3	1	218	1	0	0	0	0	1	0	0	0	8492	913	32	4	209	4	KPNA6	1	32622514	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	23938135	32622514	216628107	4	14887											
HPCA	3208	broad.mit.edu	37	chr1	33354728	33354728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacctttgacaccaacagcGatggcaccatagactttcgg	11	8	9	13	2	0	2	0	1	0	1	1	3	0	2	3	2	2	2	3	2	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:33354728G>A	uc001bwh.3	+	1	269	c.229G>A	c.(229-231)Gat>Aat	p.D77N		NM_002143	NP_002134	P84074	HPCA_HUMAN	Homo sapiens hippocalcin (HPCA), mRNA.	77	EF-hand 2.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				CACCAACAGCGATGGCACCAT	0.547													A	33354728	G	A	33354728	3	1	218	1	0	0	0	0	1	0	0	0	7384	1058	37	1	231	1	HPCA	1	33354728	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	732214	33354728	215895893	5	14888											
JAK1	3716	broad.mit.edu	37	chr1	65301859	65301860	+	Frame_Shift_Ins	INS	-	-	AT																															aagaccagacgtcagaggcaINSatataaaatttagattgcat																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:65301859_65301860insAT	uc001dbu.1	-	22	3428_3429	c.3179_3180insAT	c.(3178-3180)attfs	p.I1060fs	JAK1_uc009wam.1_Frame_Shift_Ins_p.I1060fs|JAK1_uc009wal.1_Frame_Shift_Ins_p.I237fs	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	1060	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		CGTCAGAGGCAATATAAAATTT	0.421			Mis		ALL								AT	65301860	-	AT	65301859	7	5	218	1	0	1	1	0	0	0	0	0	7995	126	5	0	296	0	JAK1	1	65301859	Frame_Shift_Ins	INS	-	TCGA-28-5219-01A-01D-1486-08	31947131	65301859	183948762	6	14889											
CDC73	79577	broad.mit.edu	37	chr1	193099308	193099309	+	Frame_Shift_Ins	INS	-	-	AAATATT																															aaattttggttttagactgaINSaaatattcctgtggttagaa																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:193099308_193099309insAAATATT	uc001gtb.3	+	2	485_486	c.242_243insAAATATT	c.(241-243)gaafs	p.E81fs		NM_024529	NP_078805	Q6P1J9	CDC73_HUMAN	Homo sapiens cell division cycle 73, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae) (CDC73), mRNA.	81					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TTTTAGACTGAAAATATTCCTG	0.292													AAATATT	193099309	-	AAATATT	193099308	7	5	218	1	0	1	1	0	0	0	0	0	3115	246	9	0	252	0	CDC73	1	193099308	Frame_Shift_Ins	INS	-	TCGA-28-5219-01A-01D-1486-08	127797449	193099308	56151313	7	14890											
NAV1	89796	broad.mit.edu	37	chr1	201782286	201782286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcccttgcttctttctgtCgtgtcccattggcattgagg	4	15	11	11	1	2	1	0	1	2	0	4	1	3	1	2	3	1	2	2	3	0	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:201782286C>T	uc021phi.1	+	27	5587	c.5240C>T	c.(5239-5241)tCg>tTg	p.S1747L	NAV1_uc001gwu.3_Missense_Mutation_p.S1744L|NAV1_uc001gwx.3_Missense_Mutation_p.S1353L	NM_020443	NP_065176	Q8NEY1	NAV1_HUMAN	Homo sapiens neuron navigator 1 (NAV1), transcript variant 1, mRNA.	1747					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						TTCTTTCTGTCGTGTCCCATT	0.507													T	201782286	C	T	201782286	3	4	218	1	0	0	0	0	1	0	0	0	10259	893	31	1	5407	1	NAV1	1	201782286	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	8682978	201782286	47468335	8	14891											
RYR2	6262	broad.mit.edu	37	chr1	237936883	237936883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttattgatgaacaaggacaaCggaatttctccaaagctatc	15	11	7	8	1	1	2	0	2	1	0	3	4	1	4	1	2	3	1	1	2	7	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr1:237936883C>T	uc001hyl.1	+	86	11830	c.11710C>T	c.(11710-11712)Cgg>Tgg	p.R3904W	RYR2_uc010pya.2_Missense_Mutation_p.R319W	NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	3904					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAAGGACAACGGAATTTCTC	0.338													T	237936883	C	T	237936883	3	4	218	1	0	0	0	0	1	0	0	0	13860	527	19	1	12056	1	RYR2	1	237936883	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	36154597	237936883	11313738	9	14892											
RRM2	6241	broad.mit.edu	37	chr2	10264898	10264898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcccgctgtttctatggcTtccaaattgccatggaaaac	11	11	8	11	1	1	0	0	0	1	0	2	1	2	1	3	2	3	3	3	2	5	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:10264898T>C	uc021vdr.1	+	4	721	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001034	NP_001159403	P31350	RIR2_HUMAN	Homo sapiens ribonucleotide reductase M2 (RRM2), transcript variant 2, mRNA.	164					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding	p.R224H(1)		NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		TTTCTATGGCTTCCAAATTGC	0.383													C	10264898	T	C	10264898	3	2	218	1	0	0	0	0	1	0	0	0	13773	1609	56	3	688	3	RRM2	2	10264898	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08		10264898	232934475	10	14893											
POLR1A	25885	broad.mit.edu	37	chr2	86272410	86272410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacattttacctttggagaTagcctgagcggctggttttc	8	15	10	8	1	0	2	0	1	0	1	1	3	0	2	2	3	4	2	2	3	3	7			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:86272410T>C	uc002sqs.3	-	20	3339	c.2960A>G	c.(2959-2961)tAt>tGt	p.Y987C	POLR1A_uc010ytb.2_Missense_Mutation_p.Y353C|POLR1A_uc002sqt.1_5'Flank	NM_015425	NP_056240	O95602	RPA1_HUMAN	Homo sapiens polymerase (RNA) I polypeptide A, 194kDa (POLR1A), mRNA.	987					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CCTTTGGAGATAGCCTGAGCG	0.522													C	86272410	T	C	86272410	3	2	218	1	0	0	0	0	1	0	0	0	12286	1406	49	3	2258	3	POLR1A	2	86272410	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	76007512	86272410	156926963	11	14894											
GLI2	2736	broad.mit.edu	37	chr2	121744096	121744096	+	Frame_Shift_Del	DEL	G	G	-																															caccggttcgagcagctcaaGaaggagaagctcaagtcact																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:121744096delG	uc010flp.3	+	11	2229	c.2199delG	c.(2197-2199)aagfs	p.K733fs	GLI2_uc002tmq.1_Frame_Shift_Del_p.K405fs|GLI2_uc002tmr.1_Frame_Shift_Del_p.K388fs|GLI2_uc002tmt.4_Frame_Shift_Del_p.K405fs|GLI2_uc002tmu.4_Frame_Shift_Del_p.K388fs|GLI2_uc002tmw.1_Frame_Shift_Del_p.K716fs	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	733					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGCAGCTCAAGAAGGAGAAGC	0.647													-	121744096	G	-	121744096	7	5	218	1	0	1	0	1	0	0	0	0	6494	933	33	0	2245	0	GLI2	2	121744096	Frame_Shift_Del	DEL	G	TCGA-28-5219-01A-01D-1486-08	35471686	121744096	121455277	12	14895											
TTN	7273	broad.mit.edu	37	chr2	179438951	179438951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttggccttcagccaccGtccattaggaaggtctctct	8	11	10	12	1	3	0	1	0	2	0	5	2	4	1	4	3	1	1	4	3	3	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179438951G>A	uc021vsy.1	-	274	64429	c.64204C>T	c.(64204-64206)Cgg>Tgg	p.R21402W	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R15097W|TTN_uc021vta.1_Missense_Mutation_p.R15030W|TTN_uc021vtb.1_Missense_Mutation_p.R14905W	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22329	Fibronectin type-III 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R21402C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGCCACCGTCCATTAGGA	0.413													A	179438951	G	A	179438951	3	1	218	1	0	0	0	0	1	0	0	0	16837	1144	40	1	36219	1	TTN	2	179438951	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	57694855	179438951	63760422	13	14896											
TTN	7273	broad.mit.edu	37	chr2	179466465	179466465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttgcctgtatgagatCgtttacactccggaataata	11	15	8	7	2	0	1	0	1	0	1	2	3	1	2	2	1	2	3	2	1	6	7			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:179466465C>A	uc021vsy.1	-	234	47873	c.47648G>T	c.(47647-47649)cGa>cTa	p.R15883L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R9578L|TTN_uc021vta.1_Missense_Mutation_p.R9511L|TTN_uc021vtb.1_Missense_Mutation_p.R9386L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	16810	Fibronectin type-III 15.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTATGAGATCGTTTACACTC	0.363													A	179466465	C	A	179466465	3	1	218	1	0	0	0	0	1	0	0	0	16837	884	31	4	52649	4	TTN	2	179466465	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	27514	179466465	63732908	14	14897											
DNAH7	56171	broad.mit.edu	37	chr2	196825609	196825609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcttggatttttttacGttgaggatatacagatggta	10	16	10	5	1	1	2	0	1	1	1	1	4	1	4	1	3	2	2	1	3	4	9			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr2:196825609G>A	uc002utj.4	-	17	2367	c.2266C>T	c.(2266-2268)Cgt>Tgt	p.R756C		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	756	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTTTTTACGTTGAGGATAT	0.368													A	196825609	G	A	196825609	3	1	218	1	0	0	0	0	1	0	0	0	4645	1145	40	1	10000	1	DNAH7	2	196825609	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	17359144	196825609	46373764	15	14898											
SUSD5	26032	broad.mit.edu	37	chr3	33194586	33194586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtggttgccatgatcGttgaggggatgtggttaggt	5	13	19	4	1	0	2	0	2	0	0	1	3	0	3	1	6	1	4	1	6	1	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:33194586G>A	uc003cfo.1	-	4	1956	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_015551	NP_056366	O60279	SUSD5_HUMAN	Homo sapiens sushi domain containing 5 (SUSD5), mRNA.	513					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGCCATGATCGTTGAGGGGAT	0.522													A	33194586	G	A	33194586	3	1	218	1	0	0	0	0	1	0	0	0	15507	1145	40	1	355	1	SUSD5	3	33194586	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		33194586	164827844	16	14899											
STAB1	23166	broad.mit.edu	37	chr3	52551109	52551109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatggctacatgggcgaCggggagctgtgccagggtga	8	6	19	8	2	0	1	0	1	0	0	0	4	0	3	1	6	3	2	1	6	1	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:52551109C>T	uc003dej.3	+	41	4547	c.4473C>T	c.(4471-4473)gaC>gaT	p.D1491D	STAB1_uc003dek.1_5'Flank	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	1491	EGF-like 11.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACATGGGCGACGGGGAGCTGT	0.622													T	52551109	C	T	52551109	2	4	218	1	0	0	0	0	0	0	0	1	15333	535	19	1		1	STAB1	3	52551109	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	19356523	52551109	145471321	17	14900											
TMEM14E	645843	broad.mit.edu	37	chr3	152058532	152058532	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggattccgtgatggctgAgaagcatccaggcctgctaa	9	11	12	9	1	0	2	0	2	0	1	2	4	2	3	3	3	2	3	3	3	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr3:152058532A>G	uc010hvo.3	-	0	248	c.162T>C	c.(160-162)tcT>tcC	p.S54S	MBNL1_uc003ezh.3_Intron|MBNL1_uc003ezi.3_Intron|MBNL1_uc003ezj.3_Intron|MBNL1_uc003ezm.3_Intron|MBNL1_uc003ezl.3_Intron|MBNL1_uc003ezp.3_Intron|MBNL1_uc003ezn.3_Intron|MBNL1_uc003ezo.3_Intron	NM_001123228	NP_001116700	Q6UXP3	TM14E_HUMAN	Homo sapiens transmembrane protein 14E (TMEM14E), mRNA.	54						integral to membrane				lung(1)	1						GTGATGGCTGAGAAGCATCCA	0.453													G	152058532	A	G	152058532	2	3	218	1	0	0	0	0	0	0	0	1	16166	291	11	3		3	TMEM14E	3	152058532	Silent	SNP	A	TCGA-28-5219-01A-01D-1486-08	99507423	152058532	45963898	18	14901											
PDE6B	5158	broad.mit.edu	37	chr4	619881	619881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaacgtcgaggacgtggccGaggtgggtctgtgcggagcc	6	7	19	9	5	1	1	0	1	1	0	2	5	1	3	2	5	3	0	2	5	1	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:619881G>A	uc003gap.3	+	0	519	c.466G>A	c.(466-468)Gag>Aag	p.E156K	PDE6B_uc003gao.4_Missense_Mutation_p.E156K	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	156	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGACGTGGCCGAGGTGGGTCT	0.642													A	619881	G	A	619881	3	1	218	1	0	0	0	0	1	0	0	0	11722	1059	37	1	468	1	PDE6B	4	619881	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		619881	190534395	19	14902											
HS3ST1	9957	broad.mit.edu	37	chr4	11401266	11401266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcgacgtgaaatacgCgggggtcttctccactgtga	7	11	14	9	4	2	2	0	2	2	0	3	3	2	2	1	3	1	0	1	3	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:11401266C>T	uc003gmq.3	-	1	687	c.364G>A	c.(364-366)Gcg>Acg	p.A122T	HS3ST1_uc021xmg.1_Missense_Mutation_p.A122T	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	122						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity	p.P121L(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GTGAAATACGCGGGGGTCTTC	0.612													T	11401266	C	T	11401266	3	4	218	1	0	0	0	0	1	0	0	0	7418	768	27	1	563	1	HS3ST1	4	11401266	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	10781385	11401266	179753010	20	14903											
UGT2A1	10941	broad.mit.edu	37	chr4	70455276	70455276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttggctcctttgtggcgCatgacaaactcgatccagaa	9	11	10	11	2	0	2	0	1	0	1	3	3	2	2	2	2	2	3	2	2	2	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:70455276C>T	uc011caq.2	-	6	2012	c.1896G>A	c.(1894-1896)atG>atA	p.M632I	UGT2A1_uc010ihu.3_Missense_Mutation_p.M466I|UGT2A1_uc003hem.4_Missense_Mutation_p.M466I|UGT2A1_uc010ihs.3_Missense_Mutation_p.M475I|UGT2A1_uc021xox.1_Missense_Mutation_p.M431I|UGT2A1_uc010iht.3_Missense_Mutation_p.M422I	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	466					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTTTGTGGCGCATGACAAACT	0.478													T	70455276	C	T	70455276	3	4	218	1	0	0	0	0	1	0	0	0	17055	710	25	2	189	2	UGT2A1	4	70455276	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	59054010	70455276	120699000	21	14904											
ODAM	54959	broad.mit.edu	37	chr4	71062419	71062419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttagcttatcccacAgcgtctcatgtctgccagca	8	14	6	13	1	2	0	1	0	2	0	4	0	3	0	2	0	5	2	2	0	3	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr4:71062419A>T	uc003hfc.3	+	1	79	c.62A>T	c.(61-63)cAg>cTg	p.Q21L		NM_017855	NP_060325	A1E959	ODAM_HUMAN	Homo sapiens odontogenic, ameloblast asssociated (ODAM), mRNA.	21					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CTTATCCCACAGCGTCTCATG	0.333													T	71062419	A	T	71062419	3	4	218	1	0	0	0	0	1	0	0	0	10900	188	7	5	68	5	ODAM	4	71062419	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	607143	71062419	120091857	22	14905											
MAST4	375449	broad.mit.edu	37	chr5	66084566	66084566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagacgtccaacctcGtgcgcatgcgcagccaggcc	8	5	12	16	4	0	1	0	0	0	1	2	2	1	1	4	1	5	3	4	1	1	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:66084566G>A	uc021xzk.1	+	2	894	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	MAST4_uc010iwz.3_Missense_Mutation_p.V196M|MAST4_uc003jur.4_Missense_Mutation_p.V196M	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	196						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GTCCAACCTCGTGCGCATGCG	0.657													A	66084566	G	A	66084566	3	1	218	1	0	0	0	0	1	0	0	0	9402	1145	40	1	596	1	MAST4	5	66084566	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		66084566	114830694	23	14906											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167892	140167892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatctctggtggagagcGgccaggcgccaaaggcgtct	7	9	15	10	3	2	1	0	0	2	1	3	2	2	1	2	5	1	1	2	5	2	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr5:140167892G>A	uc003lhb.2	+	0	2017	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.G673S	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	682	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGAGAGCGGCCAGGCGCC	0.657													A	140167892	G	A	140167892	3	1	218	1	0	0	0	0	1	0	0	0	11609	1116	39	1		1	PCDHAC2	5	140167892	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	74083326	140167892	40747368	24	14907											
SLC44A4	80736	broad.mit.edu	37	chr6	31838592	31838592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaggacactcacgggCggccagccaggtctcctgca	7	5	15	14	2	2	0	1	0	1	0	3	1	2	1	3	5	2	2	3	5	0	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:31838592C>T	uc010jti.3	-	9	1000	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	SLC44A4_uc011dol.2_Missense_Mutation_p.A236T|SLC44A4_uc011dom.2_Missense_Mutation_p.A270T	NM_025257	NP_079533	Q53GD3	CTL4_HUMAN	Homo sapiens solute carrier family 44, member 4 (SLC44A4), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CACTCACGGGCGGCCAGCCAG	0.692													T	31838592	C	T	31838592	3	4	218	1	0	0	0	0	1	0	0	0	14732	768	27	1	1246	1	SLC44A4	6	31838592	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		31838592	139276475	25	14908											
COL19A1	1310	broad.mit.edu	37	chr6	70637867	70637867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttcgagtacgaagaaaCgccaaaaaggaacggtggtt	15	8	12	6	4	0	1	0	0	0	1	1	4	0	2	1	3	3	3	1	3	6	3	rs143252227	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr6:70637867C>T	uc003pfc.1	+	4	450	c.333C>T	c.(331-333)aaC>aaT	p.N111N	COL19A1_uc010kam.2_Silent_p.N7N	NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	111	TSP N-terminal.			FRVRRNAKKERWFL -> ETTVPFWRFFVLET (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TACGAAGAAACGCCAAAAAGG	0.428													T	70637867	C	T	70637867	2	4	218	1	0	0	0	0	0	0	0	1	3707	535	19	1		1	COL19A1	6	70637867	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	38799275	70637867	100477200	26	14909											
AHR	196	broad.mit.edu	37	chr7	17378648	17378648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatttacgaaaacgaaataCgaagttgccttttatgttta	14	14	7	6	3	0	0	0	0	0	0	0	3	0	0	1	0	4	3	1	0	8	8			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:17378648C>T	uc011jxz.1	+	9	1812	c.1199C>T	c.(1198-1200)aCg>aTg	p.T400M		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	400					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAACGAAATACGAAGTTGCCT	0.333													T	17378648	C	T	17378648	3	4	218	1	0	0	0	0	1	0	0	0	416	536	19	1	1237	1	AHR	7	17378648	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		17378648	141760015	27	14910											
RABGEF1	27342	broad.mit.edu	37	chr7	66240279	66240279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggggcccaatccctcaCattctccaagtttgaagaaa	13	8	7	13	0	2	2	1	1	1	1	4	2	3	2	4	2	0	1	4	2	5	2	rs149995446	by1000genomes	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:66240279C>T	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Missense_Mutation_p.T82I|RABGEF1_uc010lag.3_Missense_Mutation_p.T82I|RABGEF1_uc011kee.2_Missense_Mutation_p.T96I|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CAATCCCTCACATTCTCCAAG	0.483													T	66240279	C	T	66240279	3	4	218	1	0	0	0	0	1	0	0	0	13054	478	17	2	251	2	RABGEF1	7	66240279	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	48861631	66240279	92898384	28	14911											
PCLO	27445	broad.mit.edu	37	chr7	82784650	82784650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaactggagtctttgtaGgcccaggtgccttagctgga	7	11	14	9	0	1	1	0	1	1	0	1	3	1	3	2	4	3	3	2	4	3	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:82784650G>A	uc003uhx.2	-	1	1596	c.1307C>T	c.(1306-1308)cCt>cTt	p.P436L	PCLO_uc003uhv.2_Missense_Mutation_p.P436L	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	388	10 X 10 AA tandem approximate repeats of P-A-K-P-Q-P-Q-Q-P-X.|Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AGTCTTTGTAGGCCCAGGTGC	0.587													A	82784650	G	A	82784650	3	1	218	1	0	0	0	0	1	0	0	0	11659	1000	35	2	14234	2	PCLO	7	82784650	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	16544371	82784650	76354013	29	14912											
SEMA3D	223117	broad.mit.edu	37	chr7	84671590	84671590	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaggctgcgttgtccTcctacatcattctgacatga	8	15	7	11	1	3	2	2	2	1	0	5	2	5	2	2	1	2	2	2	1	2	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:84671590T>C	uc003uic.3	-	7	913	c.873A>G	c.(871-873)ggA>ggG	p.G291G	SEMA3D_uc010led.3_Silent_p.G291G|SEMA3D_uc003uib.3_5'Flank	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	291	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						TGCGTTGTCCTCCTACATCAT	0.378													C	84671590	T	C	84671590	2	2	218	1	0	0	0	0	0	0	0	1	14120	1538	54	3		3	SEMA3D	7	84671590	Silent	SNP	T	TCGA-28-5219-01A-01D-1486-08	1886940	84671590	74467073	30	14913											
AKAP9	10142	broad.mit.edu	37	chr7	91708676	91708676	+	Frame_Shift_Del	DEL	C	C	-																															aaccgctaatgaagaaatgaCcttcatgaaaaatgtactta																										TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:91708676delC	uc003ulg.3	+	30	7454	c.7229delC	c.(7228-7230)accfs	p.T2410fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.T2402fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.T2033fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.T180fs	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2422	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGAAATGACCTTCATGAAA	0.353			T	BRAF	papillary thyroid								-	91708676	C	-	91708676	7	5	218	1	0	1	0	1	0	0	0	0	459	507	18	0	7351	0	AKAP9	7	91708676	Frame_Shift_Del	DEL	C	TCGA-28-5219-01A-01D-1486-08	7037086	91708676	67429987	31	14914											
AP4M1	9179	broad.mit.edu	37	chr7	99702962	99702962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgcttgcaaccacctcAgggcgaggtcagggttgggg	6	7	15	13	2	2	0	2	0	0	0	3	1	3	0	4	5	2	3	4	5	1	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:99702962A>T	uc003utb.4	+	9	1035	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	AP4M1_uc011kjg.1_Missense_Mutation_p.Q230L|AP4M1_uc010lgl.1_Missense_Mutation_p.Q276L|AP4M1_uc003utd.3_Missense_Mutation_p.Q276L|AP4M1_uc011kjh.2_Missense_Mutation_p.Q228L|AP4M1_uc003ute.4_Missense_Mutation_p.Q51L|AP4M1_uc003utf.4_Missense_Mutation_p.Q148L	NM_004722	NP_004713	O00189	AP4M1_HUMAN	Homo sapiens adaptor-related protein complex 4, mu 1 subunit (AP4M1), mRNA.	276	MHD.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAACCACCTCAGGGCGAGGTC	0.552													T	99702962	A	T	99702962	3	4	218	1	0	0	0	0	1	0	0	0	755	188	7	5	865	5	AP4M1	7	99702962	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	7994286	99702962	59435701	32	14915											
RELN	5649	broad.mit.edu	37	chr7	103293088	103293088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacaggcaagacatggAaaaagtctacagcccagaca	18	3	11	9	0	1	3	0	0	1	3	1	5	1	4	1	3	3	1	1	3	5	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:103293088A>G	uc022ajr.1	-	13	1833	c.1673T>C	c.(1672-1674)tTc>tCc	p.F558S	RELN_uc022ajq.1_Missense_Mutation_p.F558S|RELN_uc010liz.3_Missense_Mutation_p.F558S	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	558					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.F558L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CAAGACATGGAAAAAGTCTAC	0.448													G	103293088	A	G	103293088	3	3	218	1	0	0	0	0	1	0	0	0	13308	246	9	3	8917	3	RELN	7	103293088	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	3590126	103293088	55845575	33	14916											
REPIN1	29803	broad.mit.edu	37	chr7	150068992	150068992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcccaggggccgccccgCggtgaccgccccccggcccg	2	1	15	23	7	0	1	0	1	0	0	0	1	0	1	10	5	0	0	10	5	0	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:150068992C>T	uc010lpr.1	+	2	1026	c.833C>T	c.(832-834)gCg>gTg	p.A278V	REPIN1_uc003whd.2_Missense_Mutation_p.A210V|REPIN1_uc010lpq.1_Missense_Mutation_p.A221V|REPIN1_uc003whc.2_Missense_Mutation_p.A221V|REPIN1_uc003whe.2_Missense_Mutation_p.A221V	NM_001099695	NP_055189	Q9BWE0	REPI1_HUMAN	Homo sapiens replication initiator 1 (REPIN1), transcript variant 4, mRNA.	221					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			ggccgccccgcggtgaccgcc	0.711													T	150068992	C	T	150068992	3	4	218	1	0	0	0	0	1	0	0	0	13315	768	27	1	839	1	REPIN1	7	150068992	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	46775904	150068992	9069671	34	14917											
MLL3	58508	broad.mit.edu	37	chr7	151904459	151904459	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttagtttcatcatccacaGcttcccgctcaggactagat	9	12	6	14	1	3	1	3	0	0	1	5	2	5	2	3	1	1	3	3	1	2	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:151904459G>C	uc003wla.3	-	23	3986	c.3767C>G	c.(3766-3768)gCt>gGt	p.A1256G	MLL3_uc003wkz.3_Missense_Mutation_p.A317G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1256					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ATCATCCACAGCTTCCCGCTC	0.393			N		medulloblastoma								C	151904459	G	C	151904459	3	2	218	1	0	0	0	0	1	0	0	0	9697	971	34	4	11112	4	MLL3	7	151904459	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	1835467	151904459	7234204	35	14918											
UBE3C	9690	broad.mit.edu	37	chr7	157000142	157000142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggggttctcctatgtcttTtgaagattctagtcgaatca	9	15	9	8	1	4	2	1	1	3	1	6	3	4	2	1	2	0	1	1	2	4	6			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr7:157000142T>C	uc010lqs.3	+	11	1781	c.1469T>C	c.(1468-1470)tTt>tCt	p.F490S	UBE3C_uc003wng.2_Missense_Mutation_p.F490S	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	490					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.S489T(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CCTATGTCTTTTGAAGATTCT	0.358													C	157000142	T	C	157000142	3	2	218	1	0	0	0	0	1	0	0	0	16983	1841	64	3	1515	3	UBE3C	7	157000142	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08	5095683	157000142	2138521	36	14919											
SGK223	157285	broad.mit.edu	37	chr8	8234543	8234543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgggtctgggctgtccCggccccagccagatgctgct	4	9	15	13	1	1	1	0	0	1	1	2	2	2	1	4	3	3	4	4	3	0	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr8:8234543C>T	uc003wsh.4	-	1	1376	c.1376G>A	c.(1375-1377)cGg>cAg	p.R459Q		NM_001080826	NP_001074295	Q86YV5	SG223_HUMAN	Homo sapiens homolog of rat pragma of Rnd2 (SGK223), mRNA.	459							ATP binding|non-membrane spanning protein tyrosine kinase activity										TGGGCTGTCCCGGCCCCAGCC	0.622													T	8234543	C	T	8234543	3	4	218	1	0	0	0	0	1	0	0	0	14303	652	23	1	2848	1	SGK223	8	8234543	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		8234543	138129479	37	14920											
CNTNAP3	79937	broad.mit.edu	37	chr9	39140559	39140559	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcccagggggccactTccatctgcatcaatatagta	11	10	9	11	0	2	0	1	0	1	0	4	0	4	0	3	3	1	2	3	3	5	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:39140559T>A	uc004abi.3	-	11	2072	c.1833A>T	c.(1831-1833)ggA>ggT	p.G611G	CNTNAP3_uc004abj.3_Silent_p.G611G|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Silent_p.G611G|CNTNAP3_uc011lqs.1_Silent_p.G518G	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	611	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		GGGGGCCACTTCCATCTGCAT	0.453													A	39140559	T	A	39140559	2	1	218	1	0	0	0	0	0	0	0	1	3679	1770	62	5		5	CNTNAP3	9	39140559	Silent	SNP	T	TCGA-28-5219-01A-01D-1486-08		39140559	102072872	38	14921											
ZNF618	114991	broad.mit.edu	37	chr9	116810979	116810979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatccccgaaaaggagcGgcagaacatcgcagagcggc	13	3	13	12	4	0	3	0	1	0	2	2	5	1	4	2	3	3	2	2	3	3	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:116810979G>A	uc004bid.3	+	14	1496	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	ZNF618_uc004bic.3_Missense_Mutation_p.R373Q|ZNF618_uc011lxi.2_Missense_Mutation_p.R433Q|ZNF618_uc011lxj.2_Missense_Mutation_p.R434Q|ZNF618_uc010mvb.3_Missense_Mutation_p.R56Q	NM_133374	NP_588615	Q5T7W0	ZN618_HUMAN	Homo sapiens zinc finger protein 618 (ZNF618), mRNA.	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GAAAAGGAGCGGCAGAACATC	0.552													A	116810979	G	A	116810979	3	1	218	1	0	0	0	0	1	0	0	0	18143	1116	39	1	1172	1	ZNF618	9	116810979	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	77670420	116810979	24402452	39	14922											
PNPLA7	375775	broad.mit.edu	37	chr9	140389550	140389550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggccaattctgagtcccGaacggcatgcaccgtggtcg	7	9	12	13	4	1	1	0	1	1	0	3	2	2	1	3	3	2	2	3	3	2	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr9:140389550G>A	uc010ncj.1	-	18	2399	c.2062C>T	c.(2062-2064)Cgg>Tgg	p.R688W	PNPLA7_uc011mfa.1_Intron|PNPLA7_uc004cnf.2_Missense_Mutation_p.R663W	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	663					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCTGAGTCCCGAACGGCATGC	0.687													A	140389550	G	A	140389550	3	1	218	1	0	0	0	0	1	0	0	0	12247	1057	37	1	2034	1	PNPLA7	9	140389550	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	23578571	140389550	823881	40	14923											
C10orf2	56652	broad.mit.edu	37	chr10	102748161	102748161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccgccagtatttgcGggggcatgggatccccttcc	7	10	12	12	2	0	1	0	1	0	0	3	2	3	2	5	3	1	2	5	3	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr10:102748161G>A	uc001ksf.2	+	0	869	c.194G>A	c.(193-195)cGg>cAg	p.R65Q	MRPL43_uc001kry.1_5'Flank|MRPL43_uc010qpu.1_5'Flank|MRPL43_uc001krz.1_5'Flank|MRPL43_uc001ksa.1_5'Flank|MRPL43_uc001ksb.1_5'Flank|MRPL43_uc001ksc.3_5'Flank|MRPL43_uc001ksd.1_5'Flank|C10orf2_uc010qpv.1_Intron|C10orf2_uc001ksg.2_Missense_Mutation_p.R65Q|C10orf2_uc001ksi.2_Intron|C10orf2_uc021pxb.1_Non-coding_Transcript	NM_021830	NP_068602	Q96RR1	PEO1_HUMAN	Homo sapiens chromosome 10 open reading frame 2 (C10orf2), transcript variant 1, mRNA.	65					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding	p.R65Q(2)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CAGTATTTGCGGGGGCATGGG	0.572													A	102748161	G	A	102748161	3	1	218	1	0	0	0	0	1	0	0	0	1608	1116	39	1	196	1	C10orf2	10	102748161	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		102748161	32786586	41	14924											
OR5L2	26338	broad.mit.edu	37	chr11	55594981	55594981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagccatctccttcctagGgtgcatggtgcaattctact	9	12	8	12	0	2	0	0	0	2	0	4	0	3	0	3	2	4	2	3	2	4	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:55594981G>T	uc001nhy.1	+	0	287	c.287G>T	c.(286-288)gGg>gTg	p.G96V		NM_001004739	NP_001004739	Q8NGL0	OR5L2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily L, member 2 (OR5L2), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L95I(1)|p.L95V(1)		breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TCCTTCCTAGGGTGCATGGTG	0.473										HNSCC(27;0.073)			T	55594981	G	T	55594981	3	4	218	1	0	0	0	0	1	0	0	0	11247	1232	43	4	289	4	OR5L2	11	55594981	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		55594981	79411535	42	14925											
MED17	9440	broad.mit.edu	37	chr11	93543034	93543034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccccaagtggtgactatgCtatttcaggtactttctgct	7	15	8	11	0	2	1	1	1	1	0	3	1	3	1	2	2	3	3	2	2	4	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr11:93543034C>A	uc001pem.4	+	10	2011	c.1736C>A	c.(1735-1737)gCt>gAt	p.A579D		NM_004268	NP_004259	Q9NVC6	MED17_HUMAN	Homo sapiens mediator complex subunit 17 (MED17), mRNA.	579					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			large_intestine(2)|lung(11)|ovary(1)	14		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GGTGACTATGCTATTTCAGGT	0.408													A	93543034	C	A	93543034	3	1	218	1	0	0	0	0	1	0	0	0	9510	797	28	4	1778	4	MED17	11	93543034	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	37948053	93543034	41463482	43	14926											
KRT18	3875	broad.mit.edu	37	chr12	53345364	53345364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatcatggcagacatcCgggcccaatatgacgagctg	12	6	11	12	2	1	3	1	1	0	2	2	4	2	3	3	2	1	2	3	2	3	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:53345364C>T	uc001sbe.3	+	4	826	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W	KRT18_uc009zmn.2_Missense_Mutation_p.R253W|KRT18_uc001sbg.3_Missense_Mutation_p.R253W|KRT8_uc009zml.1_5'Flank|KRT8_uc009zmm.1_5'Flank	NM_199187	NP_954657	P05783	K1C18_HUMAN	Homo sapiens keratin 18 (KRT18), transcript variant 2, mRNA.	253	Coil 2.|Interaction with DNAJB6.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GGCAGACATCCGGGCCCAATA	0.582													T	53345364	C	T	53345364	3	4	218	1	0	0	0	0	1	0	0	0	8513	643	23	1	771	1	KRT18	12	53345364	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		53345364	80506531	44	14927											
C12orf12	196477	broad.mit.edu	37	chr12	91347528	91347528	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctcttccagctcctcctctCcctcctccacatattcagcc	5	12	2	22	0	3	0	1	0	2	0	9	0	8	0	8	0	2	1	8	0	1	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:91347528C>G	uc001tbj.3	-	0	1426	c.992G>C	c.(991-993)gGa>gCa	p.G331A		NM_152638	NP_689851	Q8TC90	CL012_HUMAN	Homo sapiens chromosome 12 open reading frame 12 (C12orf12), mRNA.	331	Glu-rich.									NS(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	27						ctcctcctctccctcctccac	0.547													G	91347528	C	G	91347528	3	3	218	1	0	0	0	0	1	0	0	0	1689	855	30	4	232	4	C12orf12	12	91347528	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	38002164	91347528	42504367	45	14928											
FOXN4	121643	broad.mit.edu	37	chr12	109719317	109719317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccttcccatggcggggtGggggagcgggctggggctga	4	6	21	10	2	0	1	0	1	0	0	1	2	1	2	2	8	2	2	2	8	0	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:109719317G>T	uc001toe.4	-	8	1294	c.1189C>A	c.(1189-1191)Cac>Aac	p.H397N	FOXN4_uc009zvg.3_Missense_Mutation_p.H194N|FOXN4_uc001tof.4_Missense_Mutation_p.H217N	NM_213596	NP_998761	Q96NZ1	FOXN4_HUMAN	Homo sapiens forkhead box N4 (FOXN4), mRNA.	397					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						ATGGCGGGGTGGGGGAGCGGG	0.647													T	109719317	G	T	109719317	3	4	218	1	0	0	0	0	1	0	0	0	6073	1348	47	4	372	4	FOXN4	12	109719317	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	18371789	109719317	24132578	46	14929											
HVCN1	84329	broad.mit.edu	37	chr12	111099035	111099035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggggggccctgggtgcGgggccaggggcaggggcaac	6	3	22	10	1	1	0	1	0	0	0	1	0	1	0	2	10	2	2	2	10	2	0	rs138491014		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:111099035G>A	uc001trs.1	-	3	405	c.240C>T	c.(238-240)ccC>ccT	p.P80P	HVCN1_uc001trq.1_Silent_p.P80P|HVCN1_uc001trt.1_Silent_p.P80P|HVCN1_uc010syd.1_Silent_p.P60P	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	80					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CCCTGGGTGCGGGGCCAGGGG	0.642													A	111099035	G	A	111099035	2	1	218	1	0	0	0	0	0	0	0	1	7520	1103	39	1		1	HVCN1	12	111099035	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	1379718	111099035	22752860	47	14930											
KNTC1	9735	broad.mit.edu	37	chr12	123097664	123097664	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttggtttttcagacattAggtatgcatcagttaacttt	9	19	7	6	0	2	1	2	0	0	1	2	1	2	1	0	2	2	4	0	2	3	8			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr12:123097664A>G	uc001ucv.3	+	53	5791	c.5628A>G	c.(5626-5628)ttA>ttG	p.L1876L	KNTC1_uc010taf.2_Silent_p.L801L	NM_014708	NP_055523	P50748	KNTC1_HUMAN	Homo sapiens kinetochore associated 1 (KNTC1), mRNA.	1876					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTCAGACATTAGGTATGCATC	0.373													G	123097664	A	G	123097664	2	3	218	1	0	0	0	0	0	0	0	1	8486	417	15	3		3	KNTC1	12	123097664	Silent	SNP	A	TCGA-28-5219-01A-01D-1486-08	11998629	123097664	10754231	48	14931											
GTF3C1	2975	broad.mit.edu	37	chr16	27499713	27499713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcctactcttgcttcccCccaaatattcaacctgctgt	8	12	6	15	0	2	0	1	0	1	0	3	1	3	1	5	1	5	2	5	1	4	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr16:27499713C>G	uc002dov.2	-	22	3575	c.3535G>C	c.(3535-3537)Ggg>Cgg	p.G1179R	GTF3C1_uc002dou.3_Missense_Mutation_p.G1179R	NM_001520	NP_001511	Q12789	TF3C1_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 1, alpha 220kDa (GTF3C1), mRNA.	1179						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CTTGCTTCCCCCCAAATATTC	0.552													G	27499713	C	G	27499713	3	3	218	1	0	0	0	0	1	0	0	0	6927	623	22	4	2854	4	GTF3C1	16	27499713	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		27499713	62855040	49	14932											
RPAIN	84268	broad.mit.edu	37	chr17	5329307	5329307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagcagtccatcatcagCgagtatgagaagagcttgca	13	7	12	9	1	2	3	2	1	0	3	3	5	3	3	1	0	4	5	1	0	2	2	rs142664022	byFrequency	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:5329307C>A	uc002gbp.1	+						RPAIN_uc010vsz.1_Missense_Mutation_p.S110R|RPAIN_uc010vta.1_Intron|RPAIN_uc002gbq.2_Missense_Mutation_p.S110R|RPAIN_uc010vtb.1_Missense_Mutation_p.S110R|RPAIN_uc002gbs.2_Intron|RPAIN_uc002gbt.2_Missense_Mutation_p.S110R|RPAIN_uc002gbu.2_Intron|RPAIN_uc002gbv.2_Intron|RPAIN_uc002gbr.2_Non-coding_Transcript|RPAIN_uc002gbw.2_Intron|RPAIN_uc002gbx.1_5'Flank			Q86UA6	RIP_HUMAN	Homo sapiens RPA interacting protein (RPAIN), transcript variant 8, non-coding RNA.						DNA recombination|DNA repair|DNA-dependent DNA replication|protein import into nucleus|response to UV	cytoplasm|nucleolus|PML body	metal ion binding|protein complex binding			breast(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)	6						CCATCATCAGCGAGTATGAGA	0.478													A	5329307	C	A	5329307	3	1	218	1	0	0	0	0	1	0	0	0	13631	767	27	4	344	4	RPAIN	17	5329307	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		5329307	75865903	50	14933											
TP53	7157	broad.mit.edu	37	chr17	7579699	7579699	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcccaacccttgtccttaCcagaacgttgttttcaggaa	10	11	7	13	1	1	1	1	0	0	1	2	2	2	2	4	1	4	2	4	1	4	5			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr17:7579699C>T	uc002gim.2	-	3	290	c.96_splice	c.e3+1	p.L32_splice	TP53_uc002gig.1_Splice_Site_p.L32_splice|TP53_uc002gih.3_Splice_Site_p.L32_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'Flank|TP53_uc010cnf.1_5'Flank|TP53_uc002gii.1_5'Flank|TP53_uc010cni.1_Splice_Site_p.L32_splice|TP53_uc010cnh.1_Splice_Site_p.L32_splice|TP53_uc002gij.2_Splice_Site_p.L32_splice|TP53_uc010cnj.1_5'Flank|TP53_uc002gin.2_Splice_Site_p.L32_splice|TP53_uc002gio.2_Intron|TP53_uc010vug.2_Splice_Site|TP53_uc010cnk.1_Splice_Site_p.L47_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	32	Interaction with HRMT1L2.|Transcription activation (acidic).				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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CTTGTCCTTACCAGAACGTTG	0.597		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)			T	7579699	C	T	7579699	5	4	218	1	0	0	0	0	0	0	1	0	16482	521	18	2	1209	2	TP53	17	7579699	Splice_Site	SNP	C	TCGA-28-5219-01A-01D-1486-08	2250392	7579699	73615511	51	14934											
MBD3	53615	broad.mit.edu	37	chr19	1578435	1578435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggccttgtccagcggCgcctccccgtcacgggccag	4	5	14	18	5	1	0	1	0	0	0	3	0	3	0	6	3	1	1	6	3	0	1	rs150880184		TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:1578435C>T	uc002ltj.3	-	5	802	c.780G>A	c.(778-780)gcG>gcA	p.A260A	AX747577_uc002lti.1_5'Flank|MBD3_uc002ltk.3_Silent_p.A228A|MBD3_uc002ltl.1_Silent_p.A260A	NM_003926	NP_003917	O95983	MBD3_HUMAN	Homo sapiens methyl-CpG binding domain protein 3 (MBD3), mRNA.	260					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTCCAGCGGCGCCTCCCCGT	0.692													T	1578435	C	T	1578435	2	4	218	1	0	0	0	0	0	0	0	1	9419	755	27	1		1	MBD3	19	1578435	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08		1578435	57550548	52	14935											
NOTCH3	4854	broad.mit.edu	37	chr19	15280951	15280951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagtctgtggccacctcCcccatcaggctctcaccctt	6	10	6	19	0	3	0	2	0	2	0	6	0	5	0	6	2	0	1	6	2	0	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:15280951C>T	uc002nan.3	-	27	5221	c.5145G>A	c.(5143-5145)ggG>ggA	p.G1715G		NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1715					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGCCACCTCCCCCATCAGGC	0.627													T	15280951	C	T	15280951	2	4	218	1	0	0	0	0	0	0	0	1	10626	610	22	2		2	NOTCH3	19	15280951	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	13702516	15280951	43848032	53	14936											
FKBP8	23770	broad.mit.edu	37	chr19	18648452	18648452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgatgttgtctggctggtGctccagcacaaggctgcagg	6	11	14	10	0	1	1	0	1	1	0	2	1	2	1	1	4	3	6	1	4	1	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:18648452G>A	uc002njk.1	-	5	1014	c.901C>T	c.(901-903)Cac>Tac	p.H301Y	FKBP8_uc010xqi.1_Missense_Mutation_p.H330Y|FKBP8_uc002njj.1_Missense_Mutation_p.H302Y|FKBP8_uc021uqp.1_Missense_Mutation_p.H142Y	NM_012181	NP_036313	Q14318	FKBP8_HUMAN	Homo sapiens FK506 binding protein 8, 38kDa (FKBP8), mRNA.	301					apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding	p.H302Y(1)|p.E301D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TCTGGCTGGTGCTCCAGCACA	0.642													A	18648452	G	A	18648452	3	1	218	1	0	0	0	0	1	0	0	0	5963	1319	46	2	353	2	FKBP8	19	18648452	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08	3367501	18648452	40480531	54	14937											
NFKBIB	4793	broad.mit.edu	37	chr19	39398200	39398200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcccaaccccatcctcgcCcgcctcctccgtgcacacgg	5	5	8	23	5	0	0	0	0	0	0	4	0	3	0	8	2	2	1	8	2	1	0			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:39398200C>T	uc002ojw.3	+	4	973	c.870C>T	c.(868-870)gcC>gcT	p.A290A	NFKBIB_uc010egk.2_Silent_p.A204A|NFKBIB_uc002ojx.3_Silent_p.A258A|NFKBIB_uc002ojy.3_Silent_p.A290A	NM_002503	NP_001230045	Q15653	IKBB_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, beta (NFKBIB), transcript variant 1, mRNA.	290					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleus	protein binding|signal transducer activity|transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)	8	all_cancers(60;4.39e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CCATCCTCGCCCGCCTCCTCC	0.706													T	39398200	C	T	39398200	2	4	218	1	0	0	0	0	0	0	0	1	10454	610	22	2		2	NFKBIB	19	39398200	Silent	SNP	C	TCGA-28-5219-01A-01D-1486-08	20749748	39398200	19730783	55	14938											
AXL	558	broad.mit.edu	37	chr19	41744401	41744401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggcccccctgagaacattAgtgctacgcggaatgggagc	9	7	14	11	2	0	1	0	1	0	1	0	4	0	3	3	3	4	1	3	3	4	2			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr19:41744401A>G	uc010ehj.3	+	7	1211	c.1021A>G	c.(1021-1023)Agt>Ggt	p.S341G	AXL_uc010ehi.1_Missense_Mutation_p.S341G|AXL_uc010ehk.3_Missense_Mutation_p.S341G	NM_021913	NP_068713	P30530	UFO_HUMAN	Homo sapiens AXL receptor tyrosine kinase (AXL), transcript variant 1, mRNA.	341	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						TGAGAACATTAGTGCTACGCG	0.657													G	41744401	A	G	41744401	3	3	218	1	0	0	0	0	1	0	0	0	1243	420	15	3	1051	3	AXL	19	41744401	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08	2346201	41744401	17384582	56	14939											
C20orf85	128602	broad.mit.edu	37	chr20	56728664	56728664	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagaactgggggtttttaAcaaccccttttgaggaggta	10	11	11	9	0	0	2	0	1	0	1	0	3	0	3	3	4	3	2	3	4	4	6			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr20:56728664A>T	uc002xyv.3	+	1	171	c.133A>T	c.(133-135)Aca>Tca	p.T45S		NM_178456	NP_848551	Q9H1P6	CT085_HUMAN	Homo sapiens chromosome 20 open reading frame 85 (C20orf85), mRNA.	45										kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GGGGTTTTTAACAACCCCTTT	0.433													T	56728664	A	T	56728664	3	4	218	1	0	0	0	0	1	0	0	0	2141	43	2	5	139	5	C20orf85	20	56728664	Missense_Mutation	SNP	A	TCGA-28-5219-01A-01D-1486-08		56728664	6296856	57	14940											
TMPRSS15	5651	broad.mit.edu	37	chr21	19713765	19713765	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttggcaccaaagttGgttctggataaagactccca	12	9	12	8	0	1	1	0	0	1	1	2	4	2	3	2	4	0	4	2	4	3	4			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:19713765G>C	uc002ykw.3	-	12	1560	c.1529C>G	c.(1528-1530)cCa>cGa	p.P510R		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	510					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.E509*(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACCAAAGTTGGTTCTGGATA	0.398													C	19713765	G	C	19713765	3	2	218	1	0	0	0	0	1	0	0	0	16346	1348	47	4	1582	4	TMPRSS15	21	19713765	Missense_Mutation	SNP	G	TCGA-28-5219-01A-01D-1486-08		19713765	28416130	58	14941											
RIPK4	54101	broad.mit.edu	37	chr21	43161460	43161460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgccagcaggctgcagacGttgacgtcggagcacaggtc	8	7	15	11	3	0	2	0	1	0	1	2	3	0	3	1	3	4	5	1	3	0	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr21:43161460G>A	uc002yzn.1	-	7	1941	c.1893C>T	c.(1891-1893)aaC>aaT	p.N631N		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	631						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GGCTGCAGACGTTGACGTCGG	0.697													A	43161460	G	A	43161460	2	1	218	1	0	0	0	0	0	0	0	1	13474	1136	40	1		1	RIPK4	21	43161460	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	23447695	43161460	4968435	59	14942											
PRAME	23532	broad.mit.edu	37	chr22	22892481	22892481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttcttacagcacaggCgtagtacatttttctttcgc	8	15	7	11	2	3	0	1	0	2	0	4	0	3	0	0	1	4	4	0	1	3	7	rs116965324	by1000genomes	TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:22892481C>T	uc002zwf.3	-	3	776	c.620G>A	c.(619-621)cGc>cAc	p.R207H	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.R191H|PRAME_uc010gtr.3_Missense_Mutation_p.R207H|PRAME_uc002zwg.3_Missense_Mutation_p.R207H|PRAME_uc002zwh.3_Missense_Mutation_p.R207H|PRAME_uc002zwi.3_Missense_Mutation_p.R207H|PRAME_uc002zwj.3_Missense_Mutation_p.R207H|PRAME_uc002zwk.3_Missense_Mutation_p.R207H	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	207					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding	p.R207H(2)		autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ACAGCACAGGCGTAGTACATT	0.443													T	22892481	C	T	22892481	3	4	218	1	0	0	0	0	1	0	0	0	12506	768	27	1	917	1	PRAME	22	22892481	Missense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08		22892481	28412085	60	14943											
DEPDC5	9681	broad.mit.edu	37	chr22	32239092	32239092	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttaggccttgtgtccCgaaaccgccctgaggaggag	7	10	13	11	2	1	1	0	1	1	0	2	4	2	3	4	3	1	1	4	3	2	3			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chr22:32239092C>T	uc011alu.2	+	27	2729	c.2527C>T	c.(2527-2529)Cga>Tga	p.R843*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R765*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R834*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R834*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R283*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R164*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R132*|DEPDC5_uc011alx.2_Intron|DEPDC5_uc010gwk.3_5'Flank	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	834					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCTTGTGTCCCGAAACCGCCC	0.433													T	32239092	C	T	32239092	4	4	218	1	0	0	0	0	0	1	0	0	4481	644	23	1	2624	1	DEPDC5	22	32239092	Nonsense_Mutation	SNP	C	TCGA-28-5219-01A-01D-1486-08	9346611	32239092	19065474	61	14944											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524398	73524398	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcggcagactaggacaTctggctcgtgactgtgatcg	8	9	13	11	3	1	3	0	2	1	1	3	4	1	4	1	3	1	2	1	3	1	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:73524398T>A	uc004ebs.4	+	0	374	c.297T>A	c.(295-297)caT>caA	p.H99Q		NM_203303	NP_976048	Q8WW36	ZCH13_HUMAN	Homo sapiens zinc finger, CCHC domain containing 13 (ZCCHC13), mRNA.	99							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						GACTAGGACATCTGGCTCGTG	0.512													A	73524398	T	A	73524398	3	1	218	1	0	0	0	0	1	0	0	0	17683	1432	50	5	299	5	ZCCHC13	23	73524398	Missense_Mutation	SNP	T	TCGA-28-5219-01A-01D-1486-08		73524398	81746162	62	14945											
MAGEA12	4111	broad.mit.edu	37	chrX	151900252	151900252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggccatcgtaggagagGcccaggcaggtgacaaggat	12	4	16	9	1	0	2	0	1	0	1	1	4	0	3	2	6	1	3	2	6	2	1			TCGA-28-5219-01A-01D-1486-08	TCGA-28-5219-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f016e9f7-66a3-4f50-b9cd-58b1c8a955e9	3ac55487-c16b-43e7-932d-65f6039a33fa	g.chrX:151900252G>A	uc022chj.1	-	0	549	c.549C>T	c.(547-549)ggC>ggT	p.G183G	MAGEA12_uc004fgb.3_Intron|MAGEA12_uc010ntp.3_Silent_p.G183G|MAGEA12_uc022chi.1_Silent_p.G183G|MAGEA12_uc004fgc.3_Silent_p.G183G|CSAG1_uc004fge.3_5'Flank|CSAG1_uc004fgf.3_5'Flank|CSAG1_uc004fgd.3_5'Flank	NM_005367	NP_005358	P43365	MAGAC_HUMAN	Homo sapiens melanoma antigen family A, 12 (MAGEA12), transcript variant 3, mRNA.	183	MAGE.							p.L182Q(1)|p.G183V(1)		breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGTAGGAGAGGCCCAGGCAGG	0.577													A	151900252	G	A	151900252	2	1	218	1	0	0	0	0	0	0	0	1	9237	1190	42	2		2	MAGEA12	23	151900252	Silent	SNP	G	TCGA-28-5219-01A-01D-1486-08	78375854	151900252	3370308	63	14946											
VPS13D	55187	broad.mit.edu	37	chr1	12371650	12371650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccatagaggaatttatgCggccttatgatttacaagat	14	12	8	7	1	0	3	0	1	0	2	0	4	0	4	2	2	3	0	2	2	7	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:12371650C>T	uc001atv.3	+	27	6931	c.6790C>T	c.(6790-6792)Cgg>Tgg	p.R2264W	VPS13D_uc001atw.3_Missense_Mutation_p.R2264W|VPS13D_uc001atx.3_Missense_Mutation_p.R1452W|VPS13D_uc001aty.1_Missense_Mutation_p.R2W	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	2264					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGAATTTATGCGGCCTTATGA	0.438													T	12371650	C	T	12371650	3	4	219	1	0	0	0	0	1	0	0	0	17294	759	27	1	6896	1	VPS13D	1	12371650	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		12371650	236878971	1	14947											
SLC2A1	6513	broad.mit.edu	37	chr1	43396818	43396818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgtggtgagcgtggtGggcaggatgctctccccata	7	8	16	10	2	1	2	0	1	1	1	2	3	1	3	2	4	3	2	2	4	1	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:43396818G>A	uc001cik.2	-	2	699	c.174C>T	c.(172-174)ccC>ccT	p.P58P		NM_006516	NP_006507	P11166	GTR1_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 1 (SLC2A1), mRNA.	58					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	TGAGCGTGGTGGGCAGGATGC	0.602											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43396818	G	A	43396818	2	1	219	1	0	0	0	0	0	0	0	1	14632	1335	47	2		2	SLC2A1	1	43396818	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	31025168	43396818	205853803	2	14948											
TGFBR3	7049	broad.mit.edu	37	chr1	92178062	92178062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agataaagcacgtttggatgGcaaatcccagttcttgttca	12	12	9	8	1	2	1	1	0	1	1	3	2	3	2	1	2	1	5	1	2	3	5			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr1:92178062G>A	uc001doh.3	-	12	2419	c.1904C>T	c.(1903-1905)gCc>gTc	p.A635V	TGFBR3_uc009wde.3_Intron|TGFBR3_uc010osy.2_Missense_Mutation_p.A593V|TGFBR3_uc001doi.3_Missense_Mutation_p.A634V|TGFBR3_uc001doj.3_Missense_Mutation_p.A634V	NM_003243	NP_003234	Q03167	TGBR3_HUMAN	Homo sapiens transforming growth factor, beta receptor III (TGFBR3), transcript variant 1, mRNA.	635	ZP.		A -> T.		BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CGTTTGGATGGCAAATCCCAG	0.368													A	92178062	G	A	92178062	3	1	219	1	0	0	0	0	1	0	0	0	15923	1203	42	2	671	2	TGFBR3	1	92178062	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	48781244	92178062	157072559	3	14949											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105897164	105897164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagatcagctcccggaCatcaagctggccgcttctgc	9	7	12	13	2	3	2	2	0	1	2	4	5	4	3	2	2	3	3	2	2	1	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:105897164C>T	uc002tcq.3	-	5	1222	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I	TGFBRAP1_uc010fjc.3_Missense_Mutation_p.V150I|TGFBRAP1_uc002tcr.4_Missense_Mutation_p.V380I	NM_004257	NP_004248	Q8WUH2	TGFA1_HUMAN	Homo sapiens transforming growth factor, beta receptor associated protein 1 (TGFBRAP1), transcript variant 1, mRNA.	380					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						AGCTCCCGGACATCAAGCTGG	0.532													T	105897164	C	T	105897164	3	4	219	1	0	0	0	0	1	0	0	0	15924	478	17	2	1472	2	TGFBRAP1	2	105897164	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		105897164	137302209	4	14950											
CNTNAP5	129684	broad.mit.edu	37	chr2	125367398	125367398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctacgagcaatcctgcGaggtgtacaggcaccagggg	10	6	13	12	2	1	0	0	0	1	0	2	2	2	0	3	4	4	3	3	4	3	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:125367398G>A	uc010flu.3	+	11	2141	c.1777G>A	c.(1777-1779)Gag>Aag	p.E593K	CNTNAP5_uc002tno.3_Missense_Mutation_p.E592K	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	592	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCAATCCTGCGAGGTGTACAG	0.517													A	125367398	G	A	125367398	3	1	219	1	0	0	0	0	1	0	0	0	3681	1059	37	1	1820	1	CNTNAP5	2	125367398	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	19470234	125367398	117831975	5	14951											
GALNT5	11227	broad.mit.edu	37	chr2	158114680	158114681	+	Frame_Shift_Ins	INS	-	-	C																															gtcatctggctcctctttgaINScatggcagctctccgcctct																										TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:158114680_158114681insC	uc002tzg.3	+	0	341_342	c.86_87insC	c.(85-87)gacfs	p.D29fs	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	29					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						CTCCTCTTTGACATGGCAGCTC	0.495													C	158114681	-	C	158114680	7	5	219	1	0	1	1	0	0	0	0	0	6270	275	10	0	88	0	GALNT5	2	158114680	Frame_Shift_Ins	INS	-	TCGA-28-5220-01A-01D-1486-08	32747282	158114680	85084693	6	14952											
PDE11A	50940	broad.mit.edu	37	chr2	178936459	178936459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaaaagagagcagcggtCagcatccaccataaggcaga	16	3	12	10	1	1	2	1	0	0	2	2	4	2	3	2	3	3	3	2	3	3	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:178936459C>G	uc002ulq.3	-	0	1024	c.706G>C	c.(706-708)Gac>Cac	p.D236H	PDE11A_uc002ulr.3_Intron|PDE11A_uc002ult.1_Intron	NM_016953	NP_001070664	Q9HCR9	PDE11_HUMAN	Homo sapiens phosphodiesterase 11A (PDE11A), transcript variant 4, mRNA.	236	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GAGCAGCGGTCAGCATCCACC	0.493									Primary Pigmented Nodular Adrenocortical Disease, Familial				G	178936459	C	G	178936459	3	3	219	1	0	0	0	0	1	0	0	0	11707	826	29	4	2175	4	PDE11A	2	178936459	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	20821779	178936459	64262914	7	14953											
SPHKAP	80309	broad.mit.edu	37	chr2	228882884	228882884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacaggttgacttgaacttCgttgatgcgagatgtggcac	9	11	14	7	2	0	4	0	3	0	1	1	6	0	5	0	3	2	3	0	3	1	4			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr2:228882884C>T	uc002vpq.2	-	6	2733	c.2686G>A	c.(2686-2688)Gaa>Aaa	p.E896K	SPHKAP_uc002vpp.2_Missense_Mutation_p.E896K|SPHKAP_uc010zlx.1_Missense_Mutation_p.E896K	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	896						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACTTGAACTTCGTTGATGCGA	0.502													T	228882884	C	T	228882884	3	4	219	1	0	0	0	0	1	0	0	0	15144	893	31	1	2440	1	SPHKAP	2	228882884	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	49946425	228882884	14316489	8	14954											
CADPS	8618	broad.mit.edu	37	chr3	62636671	62636671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcatgctctccaagttggCcatgagcaggttgacagatg	9	9	13	10	1	1	3	0	2	1	1	2	3	1	3	2	3	2	5	2	3	1	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr3:62636671C>T	uc003dll.2	-	4	1414	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CADPS_uc003dlm.2_Missense_Mutation_p.A352T|CADPS_uc003dln.2_Missense_Mutation_p.A352T|CADPS_uc021wzv.1_Missense_Mutation_p.A352T	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	352					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TCCAAGTTGGCCATGAGCAGG	0.478													T	62636671	C	T	62636671	3	4	219	1	0	0	0	0	1	0	0	0	2596	739	26	2	3184	2	CADPS	3	62636671	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		62636671	135385759	9	14955											
HEATR7B2	133558	broad.mit.edu	37	chr5	41070948	41070948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggattcctctgtactaaGtgtcatgtcttggctgtttc	6	18	9	8	0	3	0	1	0	2	0	5	1	4	1	1	2	1	3	1	2	3	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:41070948G>T	uc003jmj.4	-	0	497	c.7C>A	c.(7-9)Ctt>Att	p.L3I	HEATR7B2_uc021xxt.1_Missense_Mutation_p.L3I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	3							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TCTGTACTAAGTGTCATGTCT	0.398													T	41070948	G	T	41070948	3	4	219	1	0	0	0	0	1	0	0	0	7090	1029	36	4	4918	4	HEATR7B2	5	41070948	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		41070948	139844312	10	14956											
ENC1	8507	broad.mit.edu	37	chr5	73931652	73931652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagcgcttcttcaggtcaTagctgatccagttaattgca	11	13	8	9	1	3	1	2	1	1	0	4	1	4	1	1	1	3	4	1	1	4	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:73931652T>C	uc003kdc.4	-	1	1790	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	ENC1_uc011css.2_Missense_Mutation_p.Y147C|ENC1_uc021yao.1_Missense_Mutation_p.Y220C	NM_003633	NP_003624	O14682	ENC1_HUMAN	Homo sapiens ectodermal-neural cortex 1 (with BTB-like domain) (ENC1), mRNA.	220					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		CTTCAGGTCATAGCTGATCCA	0.512													C	73931652	T	C	73931652	3	2	219	1	0	0	0	0	1	0	0	0	5154	1406	49	3	1114	3	ENC1	5	73931652	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	32860704	73931652	106983608	11	14957											
PDGFRB	5159	broad.mit.edu	37	chr5	149503887	149503887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcatgatcttcagctccGacataagggcttgcttctca	9	12	8	12	1	4	1	3	1	2	0	6	3	5	1	1	1	2	3	1	1	1	4			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr5:149503887G>A	uc003lro.3	-	13	2418	c.1949C>T	c.(1948-1950)tCg>tTg	p.S650L	PDGFRB_uc010jhd.3_Missense_Mutation_p.S489L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	650	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCAGCTCCGACATAAGGGC	0.637			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149503887	G	A	149503887	3	1	219	1	0	0	0	0	1	0	0	0	11738	1059	37	1	1411	1	PDGFRB	5	149503887	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	75572235	149503887	31411373	12	14958											
SDK1	221935	broad.mit.edu	37	chr7	4011129	4011129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgtccaccctcctgaggaCcacgtggtgattaaggggac	9	8	12	12	2	0	2	0	2	0	0	3	4	2	4	4	4	0	0	4	4	1	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:4011129C>A	uc003smx.3	+	11	1885	c.1746C>A	c.(1744-1746)gaC>gaA	p.D582E		NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	582	Ig-like C2-type 6.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CTCCTGAGGACCACGTGGTGA	0.542													A	4011129	C	A	4011129	3	1	219	1	0	0	0	0	1	0	0	0	14061	506	18	4	1792	4	SDK1	7	4011129	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		4011129	155127534	13	14959											
FAM188B	358	broad.mit.edu	37	chr7	30961834	30961834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctgtagcccttggaCacctcctggctgtgagtcag	5	11	11	14	0	2	1	1	1	1	0	4	2	3	2	4	2	1	2	4	2	1	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:30961834C>T	uc003tbv.2	+	1	648	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	FAM188B_uc011kac.1_Missense_Mutation_p.H240Y|FAM188B_uc010kwf.1_Missense_Mutation_p.H97Y|FAM188B_uc010kwh.1_Missense_Mutation_p.H129Y|FAM188B_uc022abh.1_Missense_Mutation_p.H65Y	NM_198098	NP_932766	Q4G0A6	F188B_HUMAN	Homo sapiens aquaporin 1 (Colton blood group) (AQP1), transcript variant 1, mRNA.	0										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGCCCTTGGACACCTCCTGGC	0.692													T	30961834	C	T	30961834	3	4	219	1	0	0	0	0	1	0	0	0	5561	478	17	2		2	FAM188B	7	30961834	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	26950705	30961834	128176829	14	14960											
PKD1L1	168507	broad.mit.edu	37	chr7	47840381	47840381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaatgaaacagcagcccggGgaaggcgtctgtgaaggtgc	13	5	15	8	2	1	2	0	2	1	0	1	3	1	3	1	4	4	1	1	4	5	0	rs141837186		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:47840381G>A	uc003tny.2	-	53	8093	c.8059C>T	c.(8059-8061)Ccc>Tcc	p.P2687S	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2687					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGCAGCCCGGGGAAGGCGTCT	0.577													A	47840381	G	A	47840381	3	1	219	1	0	0	0	0	1	0	0	0	12041	1232	43	2	506	2	PKD1L1	7	47840381	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	16878547	47840381	111298282	15	14961											
AKAP9	10142	broad.mit.edu	37	chr7	91624020	91624020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacaagcaagaagagaaaAggatgagacaatgagagaat	23	3	11	4	0	0	5	0	2	0	4	0	9	0	6	0	1	2	1	0	1	8	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:91624020A>G	uc003ulg.3	+	5	887	c.662A>G	c.(661-663)aAg>aGg	p.K221R	AKAP9_uc003uld.4_Missense_Mutation_p.K221R|AKAP9_uc003ule.2_Missense_Mutation_p.K233R|AKAP9_uc003ulf.3_Missense_Mutation_p.K221R	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	233	Gln-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGAGAAAAGGATGAGACA	0.318			T	BRAF	papillary thyroid								G	91624020	A	G	91624020	3	3	219	1	0	0	0	0	1	0	0	0	459	72	3	3	684	3	AKAP9	7	91624020	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	43783639	91624020	67514643	16	14962											
RELN	5649	broad.mit.edu	37	chr7	103191670	103191670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggtgccaggtcGccccgaagtcccttgaaaat	11	6	12	12	2	0	2	0	1	0	1	2	3	1	2	4	2	2	2	4	2	4	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:103191670G>A	uc022ajr.1	-	40	6306	c.6146C>T	c.(6145-6147)gCg>gTg	p.A2049V	RELN_uc022ajq.1_Missense_Mutation_p.A2049V|RELN_uc010liz.3_Missense_Mutation_p.A2049V	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	2049					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.A2049V(2)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GTGCCAGGTCGCCCCGAAGTC	0.547													A	103191670	G	A	103191670	3	1	219	1	0	0	0	0	1	0	0	0	13308	1087	38	1	4336	1	RELN	7	103191670	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08	11567650	103191670	55946993	17	14963											
RNF32	140545	broad.mit.edu	37	chr7	156451221	156451221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgaggaaaacagtacCtcccacagatgccaagttaa	17	6	7	11	0	0	2	0	1	0	1	1	3	1	3	4	1	4	2	4	1	6	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr7:156451221C>G	uc003wmo.3	+	6	871	c.641C>G	c.(640-642)cCt>cGt	p.P214R	RNF32_uc010lql.1_Non-coding_Transcript|RNF32_uc010lqm.3_Missense_Mutation_p.P214R|RNF32_uc003wmq.3_Missense_Mutation_p.P214R|RNF32_uc003wmr.3_Missense_Mutation_p.P214R|RNF32_uc003wms.3_Missense_Mutation_p.P214R|RNF32_uc003wmu.3_Non-coding_Transcript|RNF32_uc003wmt.3_Missense_Mutation_p.P214R	NM_030936	NP_112198	Q9H0A6	RNF32_HUMAN	Homo sapiens ring finger protein 32 (RNF32), transcript variant 3, mRNA.	214	IQ.					aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAAACAGTACCTCCCACAGAT	0.383													G	156451221	C	G	156451221	3	3	219	1	0	0	0	0	1	0	0	0	13579	681	24	4	663	4	RNF32	7	156451221	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	53259551	156451221	2687442	18	14964											
LYN	4067	broad.mit.edu	37	chr8	56863056	56863056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaaagtcccttttaacaaAaaaagaaggcttcatcccca	17	8	5	11	0	1	1	1	0	0	1	3	1	3	1	3	1	2	2	3	1	6	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:56863056A>G	uc003xsk.4	+	4	605	c.323A>G	c.(322-324)aAa>aGa	p.K108R	LYN_uc003xsl.4_Missense_Mutation_p.K87R	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	108	SH3.				erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			CTTTTAACAAAAAAAGAAGGC	0.388													G	56863056	A	G	56863056	3	3	219	1	0	0	0	0	1	0	0	0	9178	14	1	3	337	3	LYN	8	56863056	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08		56863056	89500966	19	14965											
TRAM1	23471	broad.mit.edu	37	chr8	71510232	71510256	+	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGCCTGTTAATTTTCTAAAAATAA	-																															tttgttttggagaagtgcatTcgcctgttaattttctaaaa																										TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:71510232_71510256delTCGCCTGTTAATTTTCTAAAAATAA	uc003xyo.2	-	4	570	c.310_splice	c.e4-1	p.K104_splice	TRAM1_uc011lfc.2_Splice_Site_p.K73_splice	NM_014294	NP_055109	Q15629	TRAM1_HUMAN	Homo sapiens translocation associated membrane protein 1 (TRAM1), mRNA.	104					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity	p.R108*(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AGAAGTGCATTCGCCTGTTAATTTTCTAAAAATAAAAACAGCCAT	0.307													-	71510256	TCGCCTGTTAATTTTCTAAAAATAA	-	71510232	8	5	219	1	0	1	0	1	0	0	1	0	16552	1770	62	0	832	0	TRAM1	8	71510232	Splice_Site	DEL	TCGCCTGTTAATTTTCTAAAAATAA	TCGA-28-5220-01A-01D-1486-08	14647176	71510232	74853790	20	14966											
COL14A1	7373	broad.mit.edu	37	chr8	121219270	121219270	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atggttaactggactcatgcCccaggaaatgtggaaaaata	15	9	10	7	0	1	0	1	0	0	0	1	3	1	3	2	4	2	1	2	4	5	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr8:121219270C>T	uc003yox.3	+	9	1393	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	COL14A1_uc003yoy.3_Silent_p.A54A|COL14A1_uc010mde.1_Silent_p.A54A	NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	376	Fibronectin type-III 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GGACTCATGCCCCAGGAAATG	0.428													T	121219270	C	T	121219270	2	4	219	1	0	0	0	0	0	0	0	1	3702	610	22	2		2	COL14A1	8	121219270	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08	49709038	121219270	25144752	21	14967											
FOXB2	442425	broad.mit.edu	37	chr9	79635212	79635212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcagccgtctcacccCggcaagatgcaggaggcggc	8	4	13	16	3	2	1	2	0	1	1	3	2	2	2	4	4	3	3	4	4	1	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:79635212C>T	uc004ako.1	+	0	642	c.642C>T	c.(640-642)ccC>ccT	p.P214P		NM_001013735	NP_001013757	Q5VYV0	FOXB2_HUMAN	Homo sapiens forkhead box B2 (FOXB2), mRNA.	214					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CGTCTCACCCCGGCAAGATGC	0.751													T	79635212	C	T	79635212	2	4	219	1	0	0	0	0	0	0	0	1	6042	639	23	1		1	FOXB2	9	79635212	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08		79635212	61578219	22	14968											
OR13C4	138804	broad.mit.edu	37	chr9	107289309	107289309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaggttgcccaggaagAagtacatgggcatgtgaaga	15	6	15	5	0	0	4	0	1	0	3	0	6	0	5	1	3	2	3	1	3	5	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr9:107289309A>G	uc011lvn.2	-	0	182	c.182T>C	c.(181-183)tTc>tCc	p.F61S		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GCCCAGGAAGAAGTACATGGG	0.418													G	107289309	A	G	107289309	3	3	219	1	0	0	0	0	1	0	0	0	11012	246	9	3	776	3	OR13C4	9	107289309	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	27654097	107289309	33924122	23	14969											
PTCHD3	374308	broad.mit.edu	37	chr10	27702773	27702773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagatccaggggtgcGcgcccacctgccaccccagc	8	3	13	17	2	0	1	0	0	0	1	1	2	1	2	6	3	3	1	6	3	1	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr10:27702773G>A	uc001itu.2	-	0	525	c.407C>T	c.(406-408)gCg>gTg	p.A136V		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	136					spermatid development	integral to membrane	hedgehog receptor activity	p.G135G(1)|p.A136A(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCAGGGGTGCGCGCCCACCTG	0.667													A	27702773	G	A	27702773	3	1	219	1	0	0	0	0	1	0	0	0	12819	1087	38	1	1912	1	PTCHD3	10	27702773	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		27702773	107831974	24	14970											
OR51M1	390059	broad.mit.edu	37	chr11	5410816	5410816	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattctgatcattattaagaCcaaccctcgtctgcacacac	12	11	4	14	1	3	2	1	1	2	1	4	2	3	2	2	0	2	1	2	0	3	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:5410816C>A	uc010qzc.2	+	0	210	c.188C>A	c.(187-189)aCc>aAc	p.T63N	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_Intron|OR51B5_uc021qcv.1_Intron|OR51B5_uc001maq.2_Intron	NM_001004756	NP_001004756	B2RNI9	B2RNI9_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily M, member 1 (OR51M1), mRNA.	63						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTATTAAGACCAACCCTCGT	0.478													A	5410816	C	A	5410816	3	1	219	1	0	0	0	0	1	0	0	0	11179	507	18	4	190	4	OR51M1	11	5410816	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		5410816	129595700	25	14971											
CTNND1	1500	broad.mit.edu	37	chr11	57559037	57559037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgagaagctgacccgggcGctggaggaggaacggcgcca	9	5	17	10	4	0	2	0	2	0	1	0	6	0	5	2	5	2	2	2	5	2	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:57559037G>A	uc001nmc.4	+	2	658	c.87G>A	c.(85-87)gcG>gcA	p.A29A	CTNND1_uc001nlf.2_Silent_p.A29A|CTNND1_uc021qjk.1_Silent_p.A29A|CTNND1_uc001nlh.1_Silent_p.A29A|CTNND1_uc001nlj.4_5'UTR|CTNND1_uc001nlq.4_Intron|CTNND1_uc001nlr.4_5'UTR|CTNND1_uc001nln.4_Silent_p.A29A|CTNND1_uc001nli.4_Silent_p.A29A|CTNND1_uc001nlo.4_Intron|CTNND1_uc001nlp.4_5'UTR|CTNND1_uc001nlu.4_Intron|CTNND1_uc001nlt.4_Intron|CTNND1_uc001nlv.4_Intron|CTNND1_uc001nls.4_Intron|CTNND1_uc001nlw.4_Intron|CTNND1_uc001nmf.4_Silent_p.A29A|CTNND1_uc001nlx.4_Intron|CTNND1_uc001nlz.4_Intron|CTNND1_uc009ymn.3_Intron|CTNND1_uc001nly.4_Intron|CTNND1_uc001nmb.4_Intron|CTNND1_uc001nma.4_Intron|CTNND1_uc001nmd.4_5'UTR|CTNND1_uc001nlk.4_5'UTR|CTNND1_uc001nme.4_Silent_p.A29A|CTNND1_uc001nll.4_5'UTR|CTNND1_uc001nlm.4_Silent_p.A29A|CTNND1_uc001nmi.4_Intron|CTNND1_uc001nmg.4_5'UTR|CTNND1_uc001nmh.4_Silent_p.A29A	NM_001085458	NP_001078932	O60716	CTND1_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 1 (CTNND1), transcript variant 1, mRNA.	29					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TGACCCGGGCGCTGGAGGAGG	0.637													A	57559037	G	A	57559037	2	1	219	1	0	0	0	0	0	0	0	1	4052	1074	38	1		1	CTNND1	11	57559037	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	52148221	57559037	77447479	26	14972											
ACER3	55331	broad.mit.edu	37	chr11	76701596	76701596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcaggtttaccttaaggTaaaagagccgatattccatc	12	13	8	8	1	0	1	0	0	0	1	2	2	1	1	3	2	3	3	3	2	5	7			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:76701596T>C	uc009yum.1	+	5	520	c.416T>C	c.(415-417)gTa>gCa	p.V139A	ACER3_uc010rsg.1_Missense_Mutation_p.V97A|ACER3_uc009yul.1_Non-coding_Transcript|ACER3_uc001oxu.2_Non-coding_Transcript|ACER3_uc009yun.1_Missense_Mutation_p.V97A|ACER3_uc009yuo.1_Missense_Mutation_p.V44A|ACER3_uc010rsh.1_Missense_Mutation_p.V102A|ACER3_uc010rsi.1_Missense_Mutation_p.V44A|ACER3_uc010rsj.1_Missense_Mutation_p.V44A	NM_018367	NP_060837	Q9NUN7	ACER3_HUMAN	Homo sapiens alkaline ceramidase 3 (ACER3), mRNA.	139					ceramide metabolic process|phytosphingosine biosynthetic process|positive regulation of cell proliferation|sphingosine biosynthetic process	integral to endoplasmic reticulum membrane|integral to Golgi membrane	phytoceramidase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)	9						TACCTTAAGGTAAAAGAGCCG	0.338													C	76701596	T	C	76701596	3	2	219	1	0	0	0	0	1	0	0	0	140	1638	57	3	438	3	ACER3	11	76701596	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	19142559	76701596	58304920	27	14973											
NNMT	4837	broad.mit.edu	37	chr11	114182998	114182998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctggtgatcatggatgcGctcaagagcagctactacat	10	11	10	10	1	2	2	2	1	0	1	3	3	3	3	1	2	5	3	1	2	3	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:114182998G>A	uc001por.1	+	4	858	c.594G>A	c.(592-594)gcG>gcA	p.A198A	NNMT_uc001pos.1_Silent_p.A198A	NM_006169	NP_006160	P40261	NNMT_HUMAN	Homo sapiens nicotinamide N-methyltransferase (NNMT), mRNA.	198					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	TCATGGATGCGCTCAAGAGCA	0.612													A	114182998	G	A	114182998	2	1	219	1	0	0	0	0	0	0	0	1	10585	1074	38	1		1	NNMT	11	114182998	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	37481402	114182998	20823518	28	14974											
OR6X1	390260	broad.mit.edu	37	chr11	123624636	123624636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggatggttgctatgacGcccaggagttccaaaatgct	12	9	11	9	1	0	1	0	1	0	0	1	3	1	3	2	3	2	4	2	3	4	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr11:123624636G>A	uc010rzy.2	-	0	591	c.591C>T	c.(589-591)ggC>ggT	p.G197G		NM_001005188	NP_001005188	Q8NH79	OR6X1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily X, member 1 (OR6X1), mRNA.	197					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)	23		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTGCTATGACGCCCAGGAGTT	0.448													A	123624636	G	A	123624636	2	1	219	1	0	0	0	0	0	0	0	1	11288	1074	38	1		1	OR6X1	11	123624636	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08	9441638	123624636	11381880	29	14975											
NDUFA12	55967	broad.mit.edu	37	chr12	95365322	95365322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgttgaatttatggttcGtccaaatgaatttacgagca	12	14	8	7	3	1	2	1	2	0	0	3	3	2	2	1	1	2	3	1	1	5	6			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:95365322G>A	uc001tdl.3	-	3	387	c.332C>T	c.(331-333)aCg>aTg	p.T111M		NM_018838	NP_061326	Q9UI09	NDUAC_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 12 (NDUFA12), nuclear gene encoding mitochondrial protein, mRNA.	111					respiratory electron transport chain|respiratory gaseous exchange|response to oxidative stress|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|large_intestine(2)|lung(3)	6					NADH(DB00157)	TTTATGGTTCGTCCAAATGAA	0.423													A	95365322	G	A	95365322	3	1	219	1	0	0	0	0	1	0	0	0	10338	1145	40	1	109	1	NDUFA12	12	95365322	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		95365322	38486573	30	14976											
RBM19	9904	broad.mit.edu	37	chr12	114282577	114282577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgggtgctgtgacacAgggcgttgaaggctctctgc	8	9	15	9	1	1	2	0	2	1	0	2	2	1	2	0	3	2	3	0	3	2	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr12:114282577A>G	uc009zwi.2	-	22	2825	c.2681T>C	c.(2680-2682)cTg>cCg	p.L894P	RBM19_uc001tvn.4_Missense_Mutation_p.L894P|RBM19_uc001tvm.3_Missense_Mutation_p.L894P	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	894	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GCTGTGACACAGGGCGTTGAA	0.637													G	114282577	A	G	114282577	3	3	219	1	0	0	0	0	1	0	0	0	13209	188	7	3	209	3	RBM19	12	114282577	Missense_Mutation	SNP	A	TCGA-28-5220-01A-01D-1486-08	18917255	114282577	19569318	31	14977											
RABGGTA	5875	broad.mit.edu	37	chr14	24739285	24739285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagacttggggttcacccGcaggcagctctccaggaagc	10	7	12	12	1	2	1	1	0	1	1	3	2	2	2	2	4	2	4	2	4	2	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr14:24739285G>A	uc001wof.3	-	3	723	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	RABGGTA_uc001wog.3_Missense_Mutation_p.R101W|HP08474_uc021rro.1_5'Flank	NM_004581	NP_878256	Q92696	PGTA_HUMAN	Homo sapiens Rab geranylgeranyltransferase, alpha subunit (RABGGTA), transcript variant 2, mRNA.	101					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GGGTTCACCCGCAGGCAGCTC	0.632													A	24739285	G	A	24739285	3	1	219	1	0	0	0	0	1	0	0	0	13055	1086	38	1	1454	1	RABGGTA	14	24739285	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		24739285	82610255	32	14978											
KRT20	54474	broad.mit.edu	37	chr17	39041346	39041346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccataaacgctgggtgtcGtcccgaggcgctgcatgccc	6	7	12	16	4	0	0	0	0	0	0	2	1	1	0	4	2	3	3	4	2	2	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:39041346G>A	uc002hvl.3	-	0	150	c.92C>T	c.(91-93)aCg>aTg	p.T31M		NM_019010	NP_061883	P35900	K1C20_HUMAN	Homo sapiens keratin 20 (KRT20), mRNA.	31	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GCTGGGTGTCGTCCCGAGGCG	0.607													A	39041346	G	A	39041346	3	1	219	1	0	0	0	0	1	0	0	0	8516	1145	40	1	1214	1	KRT20	17	39041346	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		39041346	42153864	33	14979											
TBKBP1	9755	broad.mit.edu	37	chr17	45776024	45776024	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagctgcggcaacagCaaggcctccaggatgcagcc	11	3	13	14	1	0	0	0	0	0	0	1	1	1	1	3	3	8	6	3	3	2	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:45776024C>G	uc002ilu.3	+	3	1366	c.517C>G	c.(517-519)Caa>Gaa	p.Q173E		NM_014726	NP_055541	A7MCY6	TBKB1_HUMAN	Homo sapiens TBK1 binding protein 1 (TBKBP1), mRNA.	173					innate immune response					endometrium(5)|kidney(1)|lung(1)	7						GCGGCAACAGCAAGGCCTCCA	0.647											OREG0024498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	45776024	C	G	45776024	3	3	219	1	0	0	0	0	1	0	0	0	15738	711	25	4	531	4	TBKBP1	17	45776024	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	6734678	45776024	35419186	34	14980											
EXOC7	23265	broad.mit.edu	37	chr17	74084564	74084564	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatgttgtctgcgaagTcctccagcgctttggcaccg	5	12	11	13	3	1	1	0	1	1	0	3	2	3	1	4	1	2	3	4	1	1	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr17:74084564T>G	uc002jqs.3	-	10	1528	c.1433A>C	c.(1432-1434)gAc>gCc	p.D478A	EXOC7_uc010dgv.2_Missense_Mutation_p.D374A|EXOC7_uc010wsv.2_Missense_Mutation_p.D386A|EXOC7_uc010wsw.2_Missense_Mutation_p.D450A|EXOC7_uc002jqq.3_Missense_Mutation_p.D427A|EXOC7_uc010wsx.2_Missense_Mutation_p.D419A|EXOC7_uc002jqr.3_Missense_Mutation_p.D396A	NM_001145297	NP_001138769	Q9UPT5	EXOC7_HUMAN	Homo sapiens exocyst complex component 7 (EXOC7), transcript variant 4, mRNA.	478					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GTCTGCGAAGTCCTCCAGCGC	0.632													G	74084564	T	G	74084564	3	3	219	1	0	0	0	0	1	0	0	0	5351	1667	58	5	814	5	EXOC7	17	74084564	Missense_Mutation	SNP	T	TCGA-28-5220-01A-01D-1486-08	28308540	74084564	7110646	35	14981											
ZNF407	55628	broad.mit.edu	37	chr18	72775660	72775660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggatgcattgctctgtGcggtcactgaattaggggag	7	11	14	9	1	2	1	1	1	1	0	2	3	2	3	1	4	3	2	1	4	2	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr18:72775660G>A	uc002llw.2	+	7	6036	c.5983G>A	c.(5983-5985)Gcg>Acg	p.A1995T		NM_017757	NP_060227	Q9C0G0	ZN407_HUMAN	Homo sapiens zinc finger protein 407 (ZNF407), transcript variant 1, mRNA.	1995					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		ATTGCTCTGTGCGGTCACTGA	0.627													A	72775660	G	A	72775660	3	1	219	1	0	0	0	0	1	0	0	0	17988	1319	46	2	6143	2	ZNF407	18	72775660	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		72775660	5301588	36	14982											
FBN3	84467	broad.mit.edu	37	chr19	8176555	8176555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcagaagaagccatccccgGcaaagccctggcggcaggtg	10	3	14	14	3	0	2	0	0	0	2	1	2	1	2	4	4	2	3	4	4	3	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:8176555G>A	uc002mjf.3	-	30	4078	c.4061C>T	c.(4060-4062)gCc>gTc	p.A1354V		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1354	EGF-like 20; 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						GCCATCCCCGGCAAAGCCCTG	0.637													A	8176555	G	A	8176555	3	1	219	1	0	0	0	0	1	0	0	0	5753	1203	42	2	4500	2	FBN3	19	8176555	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		8176555	50952428	37	14983											
ZNF101	94039	broad.mit.edu	37	chr19	19790246	19790247	+	Frame_Shift_Ins	INS	-	-	C																															gaaacaacatgggaaagcctINSccatttcccccagtagtggt																										TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:19790246_19790247insC	uc002nni.2	+	3	558_559	c.448_449insC	c.(448-450)tccfs	p.S150fs	ZNF101_uc010ecg.2_Frame_Shift_Ins_p.S30fs|ZNF101_uc002nnj.2_Frame_Shift_Ins_p.S30fs	NM_033204	NP_149981	Q8IZC7	ZN101_HUMAN	Homo sapiens zinc finger protein 101 (ZNF101), mRNA.	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						TGGGAAAGCCTCCATTTCCCCC	0.51													C	19790247	-	C	19790246	7	5	219	1	0	1	1	0	0	0	0	0	17815	1551	54	0	462	0	ZNF101	19	19790246	Frame_Shift_Ins	INS	-	TCGA-28-5220-01A-01D-1486-08	11613691	19790246	39338737	38	14984											
CCDC155	147872	broad.mit.edu	37	chr19	49910497	49910497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accggctcctttcttggcagCggcagctctttgagtgtgaa	6	12	12	11	2	2	2	0	2	2	0	3	2	3	2	2	3	2	4	2	3	1	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:49910497C>T	uc002pnm.2	+	11	1082	c.877_splice	c.e11-1	p.R293_splice	CCDC155_uc010emx.2_Splice_Site_p.R266_splice	NM_144688	NP_653289	Q8N6L0	CC155_HUMAN	Homo sapiens coiled-coil domain containing 155 (CCDC155), mRNA.	293						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						TTCTTGGCAGCGGCAGCTCTT	0.592													T	49910497	C	T	49910497	3	4	219	1	0	0	0	0	1	0	0	0	2815	782	27	1	915	1	CCDC155	19	49910497	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	30120251	49910497	9218486	39	14985											
TBC1D17	79735	broad.mit.edu	37	chr19	50387771	50387771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctctacgtcattcagaaCgaggtggatgctttctggtg	8	13	11	9	2	4	1	2	0	2	1	5	3	5	2	1	3	3	1	1	3	2	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr19:50387771C>T	uc002pqo.3	+	11	1598	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	TBC1D17_uc010ybg.2_Silent_p.N400N|TBC1D17_uc002pqp.3_Silent_p.N84N|TBC1D17_uc002pqr.3_Silent_p.N84N	NM_024682	NP_078958	Q9HA65	TBC17_HUMAN	Homo sapiens TBC1 domain family, member 17 (TBC1D17), transcript variant 1, mRNA.	433	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		TCATTCAGAACGAGGTGGATG	0.607													T	50387771	C	T	50387771	2	4	219	1	0	0	0	0	0	0	0	1	15703	535	19	1		1	TBC1D17	19	50387771	Silent	SNP	C	TCGA-28-5220-01A-01D-1486-08	477274	50387771	8741212	40	14986											
TGM2	7052	broad.mit.edu	37	chr20	36789862	36789862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgtctacactggcctcGtagttgcggccctcaaagtg	8	10	11	12	2	2	1	1	0	1	1	3	1	2	1	2	2	2	2	2	2	3	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:36789862G>A	uc002xhr.3	-	1	250	c.150C>T	c.(148-150)taC>taT	p.Y50Y	TGM2_uc010zvx.2_Silent_p.Y50Y|TGM2_uc010zvy.2_Intron|TGM2_uc002xhs.1_Silent_p.Y50Y|TGM2_uc002xht.3_Silent_p.Y50Y|TGM2_uc002xhu.3_Silent_p.Y50Y	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	50					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	CACTGGCCTCGTAGTTGCGGC	0.642													A	36789862	G	A	36789862	2	1	219	1	0	0	0	0	0	0	0	1	15930	1140	40	1		1	TGM2	20	36789862	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08		36789862	26235658	41	14987											
PFDN4	5203	broad.mit.edu	37	chr20	52830966	52830966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaatacaagtagaatcaCagagctgaaggaagaaatag	20	5	11	5	1	1	4	1	1	0	3	1	6	1	6	0	2	2	2	0	2	9	3			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr20:52830966C>T	uc002xwx.3	+	1	239	c.101C>T	c.(100-102)aCa>aTa	p.T34I		NM_002623	NP_002614	Q9NQP4	PFD4_HUMAN	Homo sapiens prefoldin subunit 4 (PFDN4), mRNA.	34					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			AGTAGAATCACAGAGCTGAAG	0.284													T	52830966	C	T	52830966	3	4	219	1	0	0	0	0	1	0	0	0	11834	478	17	2	107	2	PFDN4	20	52830966	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	16041104	52830966	10194554	42	14988											
TRPM2	7226	broad.mit.edu	37	chr21	45786659	45786659	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgagtctcccaggacaCgccctccagcgtgatctacc	7	7	9	18	4	2	1	0	1	2	0	5	3	4	2	5	1	2	0	5	1	1	1			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr21:45786659C>G	uc010gpt.1	+	3	546	c.446C>G	c.(445-447)aCg>aGg	p.T149R	TRPM2_uc002zet.1_Missense_Mutation_p.T149R|TRPM2_uc002zeu.1_Missense_Mutation_p.T149R|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.T149R|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	149						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TCCCAGGACACGCCCTCCAGC	0.617													G	45786659	C	G	45786659	3	3	219	1	0	0	0	0	1	0	0	0	16687	536	19	4	460	4	TRPM2	21	45786659	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08		45786659	2343236	43	14989											
PICK1	9463	broad.mit.edu	37	chr22	38471061	38471061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaagacacGgcagctggggagccgtccag	11	2	20	8	2	0	1	0	0	0	1	1	7	1	6	2	7	2	2	2	7	1	0			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:38471061G>A	uc003auq.3	+	12	1560	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	PICK1_uc003aur.3_Silent_p.T390T|PICK1_uc003aus.3_Silent_p.T390T|PICK1_uc003aut.3_Silent_p.T390T	NM_012407	NP_036539	Q9NRD5	PICK1_HUMAN	Homo sapiens protein interacting with PRKCA 1 (PICK1), transcript variant 1, mRNA.	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					aggaagaCACGGCAGCTGGGG	0.642													A	38471061	G	A	38471061	2	1	219	1	0	0	0	0	0	0	0	1	11958	1103	39	1		1	PICK1	22	38471061	Silent	SNP	G	TCGA-28-5220-01A-01D-1486-08		38471061	12833505	44	14990											
RIBC2	26150	broad.mit.edu	37	chr22	45813805	45813805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggaatggaagaacgccCgtgctgaacaaaaatgcgca	17	4	12	8	3	0	2	0	1	0	1	0	4	0	4	1	2	4	2	1	2	7	0	rs137932273		TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chr22:45813805C>T	uc011aqs.2	+	3	726	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_015653	NP_056468	Q9H4K1	RIBC2_HUMAN	Homo sapiens RIB43A domain with coiled-coils 2 (RIBC2), mRNA.	106										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GAAGAACGCCCGTGCTGAACA	0.418													T	45813805	C	T	45813805	3	4	219	1	0	0	0	0	1	0	0	0	13442	652	23	1	529	1	RIBC2	22	45813805	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	7342744	45813805	5490761	45	14991											
SMC1A	8243	broad.mit.edu	37	chrX	53432322	53432322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttccatccagtgccactGtctacacacagcagggggaa	10	7	12	12	0	1	0	0	0	1	0	3	1	3	1	3	3	3	2	3	3	2	2			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:53432322G>T	uc004dsg.3	-	12	1981	c.1912_splice	c.e12-1	p.T638_splice	SMC1A_uc011moe.2_Splice_Site_p.T616_splice|SMC1A_uc011mof.2_Splice_Site_p.T404_splice	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	638	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGTGCCACTGTCTACACACA	0.562													T	53432322	G	T	53432322	3	4	219	1	0	0	0	0	1	0	0	0	14875	1391	48	4	1844	4	SMC1A	23	53432322	Missense_Mutation	SNP	G	TCGA-28-5220-01A-01D-1486-08		53432322	101838238	46	14992											
SATL1	340562	broad.mit.edu	37	chrX	84347411	84347411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctctttcattcttcccatgCcatgtccaggagttcttctc	5	16	5	15	0	5	0	1	0	4	0	8	1	7	1	4	1	1	1	4	1	0	5			TCGA-28-5220-01A-01D-1486-08	TCGA-28-5220-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7b80486-fa19-49c7-8ace-ea61338677d7	b433f374-fb46-4a11-9ab2-438803d8ac1f	g.chrX:84347411C>G	uc004een.3	-	4					APOOL_uc004eem.3_3'UTR|APOOL_uc010nmp.3_Non-coding_Transcript	NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.								N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TCTTCCCATGCCATGTCCAGG	0.458													G	84347411	C	G	84347411	3	3	219	1	0	0	0	0	1	0	0	0	13947	754	26	4		4	SATL1	23	84347411	Missense_Mutation	SNP	C	TCGA-28-5220-01A-01D-1486-08	30915089	84347411	70923149	47	14993											
DNAJC11	55735	broad.mit.edu	37	chr1	6705885	6705885	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggctggttttagtgtcTcggacgatgctagtgttcat	7	15	13	6	2	2	0	1	0	1	0	3	2	2	1	0	3	1	4	0	3	3	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:6705885T>C	uc001aof.2	-	7	964	c.858A>G	c.(856-858)cgA>cgG	p.R286R	DNAJC11_uc001aog.2_Silent_p.R286R|DNAJC11_uc010nzu.1_Silent_p.R196R	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	286					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTAGTGTCTCGGACGATGC	0.587													C	6705885	T	C	6705885	2	2	220	1	0	0	0	0	0	0	0	1	4669	1538	54	3		3	DNAJC11	1	6705885	Silent	SNP	T	TCGA-28-6450-01A-11D-1696-08		6705885	242544736	1	14994											
NPPA	4878	broad.mit.edu	37	chr1	11907662	11907662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggacacggcattgtacatgGgattagctctggtctgacct	8	12	12	9	1	2	1	0	1	2	0	2	3	2	3	1	4	2	3	1	4	2	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907662G>C	uc001ati.3	-	0	179	c.80C>G	c.(79-81)cCc>cGc	p.P27R	CLCN6_uc010oba.1_Non-coding_Transcript|CLCN6_uc010oav.1_Non-coding_Transcript|CLCN6_uc010oay.1_Non-coding_Transcript|CLCN6_uc010oax.1_Non-coding_Transcript|CLCN6_uc010oaw.1_Non-coding_Transcript|CLCN6_uc010oaz.1_Non-coding_Transcript	NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	27					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATTGTACATGGGATTAGCTCT	0.567													C	11907662	G	C	11907662	3	2	220	1	0	0	0	0	1	0	0	0	10667	1232	43	4	387	4	NPPA	1	11907662	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	5201777	11907662	237342959	2	14995											
NPPA	4878	broad.mit.edu	37	chr1	11907712	11907712	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgccagtaaaaggaggaaGctcacggtggtggtggagaa	14	6	16	5	1	1	1	1	0	0	1	1	4	1	3	1	6	2	2	1	6	5	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:11907712G>C	uc001ati.3	-	0	129	c.30C>G	c.(28-30)agC>agG	p.S10R		NM_006172	NP_006163	P01160	ANF_HUMAN	Homo sapiens natriuretic peptide A (NPPA), mRNA.	10					cGMP biosynthetic process|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size	extracellular region	hormone activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.04e-06)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|Kidney(185;0.000733)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGGAGGAAGCTCACGGTGG	0.557													C	11907712	G	C	11907712	3	2	220	1	0	0	0	0	1	0	0	0	10667	962	34	4	437	4	NPPA	1	11907712	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	50	11907712	237342909	3	14996											
ADC	113451	broad.mit.edu	37	chr1	33583641	33583641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgacaacatgggcgccTacactgtgggcatgggttcc	7	11	12	11	1	1	1	0	1	1	0	2	1	2	1	2	3	2	2	2	3	2	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:33583641T>A	uc009vug.3	+	7	1300	c.1228T>A	c.(1228-1230)Tac>Aac	p.Y410N	ADC_uc001bwr.3_Missense_Mutation_p.Y390N|ADC_uc001bws.3_Missense_Mutation_p.Y390N|ADC_uc009vue.3_Missense_Mutation_p.Y390N|ADC_uc001bwt.1_Missense_Mutation_p.Y295N|ADC_uc001bwu.3_Missense_Mutation_p.Y295N|ADC_uc001bwv.3_Missense_Mutation_p.Y295N|ADC_uc001bwx.1_Missense_Mutation_p.Y367N	NM_052998	NP_443724	Q96A70	ADC_HUMAN	Homo sapiens arginine decarboxylase (ADC), mRNA.	390					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	CATGGGCGCCTACACTGTGGG	0.632													A	33583641	T	A	33583641	3	1	220	1	0	0	0	0	1	0	0	0	287	1522	53	5	1198	5	ADC	1	33583641	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	21675929	33583641	215666980	4	14997											
FLG	2312	broad.mit.edu	37	chr1	152285965	152285965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacctggtagagggaagacCctgaacgtccagaccgttcc	10	7	11	13	2	1	4	1	1	0	3	3	5	3	5	5	2	1	2	5	2	3	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:152285965C>A	uc001ezu.1	-	2	1433	c.1397G>T	c.(1396-1398)gGg>gTg	p.G466V	AK056431_uc001ezv.3_Non-coding_Transcript	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	466	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGGAAGACCCTGAACGTCC	0.607									Ichthyosis				A	152285965	C	A	152285965	3	1	220	1	0	0	0	0	1	0	0	0	5971	623	22	4	10792	4	FLG	1	152285965	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	118702324	152285965	96964656	5	14998											
AQP10	89872	broad.mit.edu	37	chr1	154293715	154293715	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtgcctggcagagttTctgggtgtgtttgtactcat	5	14	14	8	1	2	1	1	0	1	1	2	1	2	1	1	3	2	5	1	3	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:154293715T>C	uc001feu.3	+	0	124	c.84T>C	c.(82-84)ttT>ttC	p.F28F		NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	28					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGCAGAGTTTCTGGGTGTGT	0.552													C	154293715	T	C	154293715	2	2	220	1	0	0	0	0	0	0	0	1	825	1780	62	3		3	AQP10	1	154293715	Silent	SNP	T	TCGA-28-6450-01A-11D-1696-08	2007750	154293715	94956906	6	14999											
EFNA3	1944	broad.mit.edu	37	chr1	155058900	155058900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccacagaagactttgagGgagagaaccctcaggtgccc	11	7	12	11	0	1	4	1	1	0	3	2	6	2	5	3	2	2	0	3	2	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:155058900G>A	uc001fhf.3	+	4	668	c.598G>A	c.(598-600)Gga>Aga	p.G200R	EFNA3_uc010pew.2_Missense_Mutation_p.G195R|EFNA3_uc010pex.2_Missense_Mutation_p.G174R	NM_004952	NP_004943	P52797	EFNA3_HUMAN	Homo sapiens ephrin-A3 (EFNA3), mRNA.	200					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			AGACTTTGAGGGAGAGAACCC	0.632											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	155058900	G	A	155058900	3	1	220	1	0	0	0	0	1	0	0	0	4991	1233	43	2	616	2	EFNA3	1	155058900	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	765185	155058900	94191721	7	15000											
AIM2	9447	broad.mit.edu	37	chr1	159043117	159043117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcactgcagacaccGccccagcattttgaatcatc	10	11	5	15	1	4	2	3	1	1	1	5	2	4	2	3	0	2	2	3	0	1	3	rs149324922		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:159043117G>A	uc001ftj.1	-	1	418	c.173C>T	c.(172-174)gCg>gTg	p.A58V		NM_004833	NP_004824	O14862	AIM2_HUMAN	Homo sapiens absent in melanoma 2 (AIM2), mRNA.	58	DAPIN.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TGCAGACACCGCCCCAGCATT	0.393													A	159043117	G	A	159043117	3	1	220	1	0	0	0	0	1	0	0	0	432	1087	38	1	878	1	AIM2	1	159043117	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	3984217	159043117	90207504	8	15001											
TLR5	7100	broad.mit.edu	37	chr1	223285929	223285929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttttggatagatccaagcGagttaaagcctttaaatttc	13	15	7	6	1	0	1	0	0	0	1	2	3	1	2	2	1	2	1	2	1	6	7			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr1:223285929G>A	uc021pjl.1	-	0	445	c.445C>T	c.(445-447)Cgc>Tgc	p.R149C	TLR5_uc001hnv.2_Missense_Mutation_p.R149C|TLR5_uc001hnw.2_Missense_Mutation_p.R149C	NM_003268	NP_003259	O60602	TLR5_HUMAN	Homo sapiens toll-like receptor 5 (TLR5), mRNA.	149					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AGATCCAAGCGAGTTAAAGCC	0.368													A	223285929	G	A	223285929	3	1	220	1	0	0	0	0	1	0	0	0	16054	1058	37	1	2135	1	TLR5	1	223285929	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	64242812	223285929	25964692	9	15002											
DHX57	90957	broad.mit.edu	37	chr2	39088222	39088222	+	Frame_Shift_Del	DEL	A	A	-																															attatttattctggtcctagAgggtactggcagaaagttca																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:39088222delA	uc002rrf.3	-	4	1429	c.1330delT	c.(1330-1332)tctfs	p.S444fs	DHX57_uc002rre.3_5'UTR|DHX57_uc002rrg.3_Frame_Shift_Del_p.S444fs	NM_198963	NP_945314	Q6P158	DHX57_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57 (DHX57), mRNA.	444							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				CTGGTCCTAGAGGGTACTGGC	0.378													-	39088222	A	-	39088222	7	5	220	1	0	1	0	1	0	0	0	0	4552	304	11	0	2910	0	DHX57	2	39088222	Frame_Shift_Del	DEL	A	TCGA-28-6450-01A-11D-1696-08		39088222	204111151	10	15003											
SEMA4F	10505	broad.mit.edu	37	chr2	74902997	74902997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtgcctggagcttccGgctggatgagtgtgtggccc	4	11	16	10	1	1	1	0	1	1	0	2	3	2	3	3	4	2	2	3	4	0	1	rs146294784		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:74902997G>A	uc002sna.1	+	11	1715	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q	SEMA4F_uc010ffq.1_Missense_Mutation_p.R502Q|SEMA4F_uc010ffr.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snb.1_Missense_Mutation_p.R147Q|SEMA4F_uc002snc.1_Missense_Mutation_p.R380Q	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	535	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TGGAGCTTCCGGCTGGATGAG	0.587													A	74902997	G	A	74902997	3	1	220	1	0	0	0	0	1	0	0	0	14128	1116	39	1	1650	1	SEMA4F	2	74902997	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	35814775	74902997	168296376	11	15004											
KYNU	8942	broad.mit.edu	37	chr2	143713833	143713833	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaagccaaagccttccCttctgatcatgtaaggactt	11	12	7	11	0	3	2	1	1	2	1	4	3	4	3	3	1	2	1	3	1	4	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:143713833C>A	uc010fnm.3	+	6	713	c.497C>A	c.(496-498)cCt>cAt	p.P166H	KYNU_uc002tvk.3_Missense_Mutation_p.P166H|KYNU_uc002tvl.3_Missense_Mutation_p.P166H	NM_001199241	NP_001186170	Q16719	KYNU_HUMAN	Homo sapiens kynureninase (KYNU), transcript variant 3, mRNA.	166	Pyridoxal phosphate binding.				anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity	p.P166L(2)		large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AAAGCCTTCCCTTCTGATCAT	0.343													A	143713833	C	A	143713833	3	1	220	1	0	0	0	0	1	0	0	0	8646	681	24	4	515	4	KYNU	2	143713833	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	68810836	143713833	99485540	12	15005											
SPC25	57405	broad.mit.edu	37	chr2	169728042	169728042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaattctgctaggccctCaagatgaggggcactatctg	10	11	11	9	0	3	3	1	2	2	1	3	3	3	3	1	3	1	2	1	3	4	4	rs146133605	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:169728042C>T	uc002uel.3	-	6	705	c.574G>A	c.(574-576)Gag>Aag	p.E192K		NM_020675	NP_065726	Q9HBM1	SPC25_HUMAN	Homo sapiens SPC25, NDC80 kinetochore complex component, homolog (S. cerevisiae) (SPC25), mRNA.	192	Interaction with the C-terminus of SPBC24.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						GCTAGGCCCTCAAGATGAGGG	0.338													T	169728042	C	T	169728042	3	4	220	1	0	0	0	0	1	0	0	0	15118	835	29	2	104	2	SPC25	2	169728042	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	26014209	169728042	73471331	13	15006											
LRP2	4036	broad.mit.edu	37	chr2	170050292	170050292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acactggtgccttttatcctCgtcactcatatccccacagt	8	13	5	15	1	2	0	2	0	0	0	5	0	4	0	4	1	1	0	4	1	2	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr2:170050292C>T	uc002ues.3	-	46	9022	c.8809G>A	c.(8809-8811)Gag>Aag	p.E2937K		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	2937	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTTTATCCTCGTCACTCATA	0.473													T	170050292	C	T	170050292	3	4	220	1	0	0	0	0	1	0	0	0	9026	893	31	1	5290	1	LRP2	2	170050292	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	322250	170050292	73149081	14	15007											
GPD1L	23171	broad.mit.edu	37	chr3	32180198	32180198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagagtgcccaagaaagcGctgggaatcaccctcatcaa	13	5	12	11	1	3	2	3	0	0	2	3	4	3	3	2	2	2	1	2	2	4	0	rs149167213		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:32180198G>A	uc003cew.3	+	2	546	c.345G>A	c.(343-345)gcG>gcA	p.A115A		NM_015141	NP_055956	Q8N335	GPD1L_HUMAN	Homo sapiens glycerol-3-phosphate dehydrogenase 1-like (GPD1L), mRNA.	115					glycerol-3-phosphate catabolic process	glycerol-3-phosphate dehydrogenase complex	glycerol-3-phosphate dehydrogenase|NAD binding|protein homodimerization activity			large_intestine(4)|lung(7)|ovary(1)	12						CCAAGAAAGCGCTGGGAATCA	0.502													A	32180198	G	A	32180198	2	1	220	1	0	0	0	0	0	0	0	1	6659	1074	38	1		1	GPD1L	3	32180198	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08		32180198	165842232	15	15008											
RUVBL1	8607	broad.mit.edu	37	chr3	127806571	127806571	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcatttcctgtggagtaTacagcatggtccggattatc	8	15	10	8	1	1	0	1	0	0	0	4	2	3	2	2	3	2	3	2	3	3	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:127806571T>C	uc003ekh.3	-	8	1201	c.1097A>G	c.(1096-1098)tAt>tGt	p.Y366C	RUVBL1_uc003ekf.3_Missense_Mutation_p.Y306C|RUVBL1_uc010hss.3_Missense_Mutation_p.Y366C	NM_003707	NP_003698	Q9Y265	RUVB1_HUMAN	Homo sapiens RuvB-like 1 (E. coli) (RUVBL1), mRNA.	366					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		CTGTGGAGTATACAGCATGGT	0.507													C	127806571	T	C	127806571	3	2	220	1	0	0	0	0	1	0	0	0	13843	1406	49	3	285	3	RUVBL1	3	127806571	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	95626373	127806571	70215859	16	15009											
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	12	12	9	8	0	4	4	1	2	3	2	5	5	4	4	0	2	1	1	0	2	3	3	rs121913286		TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr3:178936094C>A	uc003fjk.3	+	9	1793	c.1636C>A	c.(1636-1638)Cag>Aag	p.Q546K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.Q546K(183)|p.E545A(96)|p.E545G(79)|p.Q546R(28)|p.Q546E(24)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.Q546P(15)|p.Q546L(6)|p.E545V(6)|p.Q546H(5)|p.(542_545)E>K(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936094	C	A	178936094	3	1	220	1	0	0	0	0	1	0	0	0	11990	711	25	4	1670	4	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	51129523	178936094	19086336	17	15010											
MFSD10	10227	broad.mit.edu	37	chr4	2934851	2934851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggcacagcagcatcacCgggcgcctccccaagcagtc	10	3	10	18	2	1	0	1	0	0	0	3	0	2	0	5	2	3	4	5	2	1	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:2934851C>T	uc003gfw.3	-	2	668	c.354G>A	c.(352-354)ccG>ccA	p.P118P	MFSD10_uc021xks.1_Silent_p.P42P|MFSD10_uc003gfz.3_Silent_p.P118P|NOP14-AS1_uc003ggd.1_5'Flank|NOP14-AS1_uc003gge.1_5'Flank|NOP14-AS1_uc003ggg.1_5'Flank|NOP14-AS1_uc003ggh.3_5'Flank	NM_001120	NP_001139541	Q14728	MFS10_HUMAN	Homo sapiens major facilitator superfamily domain containing 10 (MFSD10), transcript variant 1, mRNA.	118					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCAGCATCACCGGGCGCCTCC	0.627													T	2934851	C	T	2934851	2	4	220	1	0	0	0	0	0	0	0	1	9603	639	23	1		1	MFSD10	4	2934851	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		2934851	188219425	18	15011											
UGT2A3	79799	broad.mit.edu	37	chr4	69798434	69798434	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccccagagaaaacaccAcaataccatcttcccctgaa	15	6	5	15	0	1	3	0	2	1	1	2	4	2	3	6	0	2	0	6	0	5	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:69798434A>G	uc003hef.2	-	2	939	c.908T>C	c.(907-909)gTg>gCg	p.V303A	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	303						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAAAACACCACAATACCATC	0.363													G	69798434	A	G	69798434	3	3	220	1	0	0	0	0	1	0	0	0	17057	159	6	3	691	3	UGT2A3	4	69798434	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08	66863583	69798434	121355842	19	15012											
PRKG2	5593	broad.mit.edu	37	chr4	82125748	82125748	+	Frame_Shift_Del	DEL	C	C	-																															ggaaatttcttacctggagtCttttctgactcttgctttct																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:82125748delC	uc003hmh.2	-	0	467	c.454delG	c.(454-456)gacfs	p.D152fs	PRKG2_uc011cch.1_Frame_Shift_Del_p.D152fs	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	152					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TACCTGGAGTCTTTTCTGACT	0.428													-	82125748	C	-	82125748	7	5	220	1	0	1	0	1	0	0	0	0	12609	913	32	0	1906	0	PRKG2	4	82125748	Frame_Shift_Del	DEL	C	TCGA-28-6450-01A-11D-1696-08	12327314	82125748	109028528	20	15013											
FGG	2266	broad.mit.edu	37	chr4	155527975	155527975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattgtcccaggtactgaaCtgcatgccattatgggatgt	9	13	10	9	0	1	1	1	1	0	0	2	2	2	2	2	2	4	2	2	2	3	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:155527975C>A	uc003ioj.3	-	7	1152	c.1011G>T	c.(1009-1011)caG>caT	p.Q337H	FGG_uc003iog.3_Missense_Mutation_p.Q337H	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	337	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGGTACTGAACTGCATGCCAT	0.473													A	155527975	C	A	155527975	3	1	220	1	0	0	0	0	1	0	0	0	5919	564	20	4	377	4	FGG	4	155527975	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	73402227	155527975	35626301	21	15014											
FBXO8	26269	broad.mit.edu	37	chr4	175160248	175160248	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactctccacgctcttcaggGgcatggatatgacgaaaaaa	13	9	9	10	2	3	1	1	1	2	0	4	3	3	2	1	3	1	2	1	3	5	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr4:175160248G>C	uc003itp.3	-	4	1519	c.669C>G	c.(667-669)gcC>gcG	p.A223A	FBXO8_uc003itq.3_Silent_p.A182A	NM_012180	NP_036312	Q9NRD0	FBX8_HUMAN	Homo sapiens F-box protein 8 (FBXO8), mRNA.	223	SEC7.				regulation of ARF protein signal transduction|ubiquitin-dependent protein catabolic process	cytoplasm|ubiquitin ligase complex	ARF guanyl-nucleotide exchange factor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|urinary_tract(1)	14		Prostate(90;0.00201)|Melanoma(52;0.012)|Renal(120;0.0183)|all_neural(102;0.0887)|all_hematologic(60;0.107)		all cancers(43;7.29e-18)|Epithelial(43;1.85e-15)|OV - Ovarian serous cystadenocarcinoma(60;5.62e-09)|GBM - Glioblastoma multiforme(59;0.00115)|STAD - Stomach adenocarcinoma(60;0.00299)|LUSC - Lung squamous cell carcinoma(193;0.1)		GCTCTTCAGGGGCATGGATAT	0.398													C	175160248	G	C	175160248	2	2	220	1	0	0	0	0	0	0	0	1	5810	1219	43	4		4	FBXO8	4	175160248	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	19632273	175160248	15994028	22	15015											
PLEKHG4B	153478	broad.mit.edu	37	chr5	161999	161999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcgccgtggtcagccaGgctgagtgcagggagggaga	8	5	19	9	2	1	3	1	2	0	1	1	5	1	4	2	4	3	2	2	4	0	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:161999G>T	uc003jak.2	+	9	1571	c.1521G>T	c.(1519-1521)caG>caT	p.Q507H		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	507					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TGGTCAGCCAGGCTGAGTGCA	0.627													T	161999	G	T	161999	3	4	220	1	0	0	0	0	1	0	0	0	12149	991	35	4	1559	4	PLEKHG4B	5	161999	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		161999	180753261	23	15016											
HCN1	348980	broad.mit.edu	37	chr5	45262526	45262526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagtgacagctgggaggCggtgggggaggcatagtgga	9	6	21	5	1	0	2	0	2	0	0	0	5	0	5	0	7	1	2	0	7	1	1	rs141383188	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:45262526C>T	uc003jok.3	-	7	2195	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	724						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						AGCTGGGAGGCGGTGGGGGAG	0.652													T	45262526	C	T	45262526	3	4	220	1	0	0	0	0	1	0	0	0	7051	768	27	1	506	1	HCN1	5	45262526	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	45100527	45262526	135652734	24	15017											
PCDHAC2	56141	broad.mit.edu	37	chr5	140214002	140214002	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatacgacccagggggcCgacatctactgctgtttatt	9	11	11	10	2	1	0	0	0	1	0	1	3	1	1	2	3	3	2	2	3	3	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140214002C>T	uc003lhq.2	+	0	34	c.34C>T	c.(34-36)Cga>Tga	p.R12*	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Nonsense_Mutation_p.R12*	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	0					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAGGGGGCCGACATCTACT	0.468													T	140214002	C	T	140214002	4	4	220	1	0	0	0	0	0	1	0	0	11609	644	23	1		1	PCDHAC2	5	140214002	Nonsense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	94951476	140214002	40701258	25	15018											
PCDHGC5	56102	broad.mit.edu	37	chr5	140751755	140751755	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtggacgcagactcGggatacaacgcctggctgtc	7	7	16	11	4	0	1	0	0	0	1	2	3	0	3	1	5	2	2	1	5	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:140751755G>A	uc003ljw.2	+	0	1794	c.1794G>A	c.(1792-1794)tcG>tcA	p.S598S	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljy.2_5'Flank|PCDHGC5_uc011dat.2_Silent_p.S598S|PCDHGC5_uc011dau.2_5'Flank	NM_018924	NP_061747	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 3 (PCDHGB3), transcript variant 1, mRNA.	599	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCAGACTCGGGATACAACG	0.672													A	140751755	G	A	140751755	2	1	220	1	0	0	0	0	0	0	0	1	11647	1103	39	1		1	PCDHGC5	5	140751755	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	537753	140751755	40163505	26	15019											
DRD1	1812	broad.mit.edu	37	chr5	174869045	174869045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctatggcattattcgtcGcagggcaaagtctgtagcat	9	13	10	9	2	2	0	0	0	2	0	5	0	2	0	0	2	1	5	0	2	4	4	rs144813919	byFrequency	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr5:174869045G>A	uc003mcz.3	-	1	2003	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	DRD1_uc021yia.1_Missense_Mutation_p.A353V	NM_000794	NP_000785	P21728	DRD1_HUMAN	Homo sapiens dopamine receptor D1 (DRD1), mRNA.	353					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|adult walking behavior|cerebral cortex GABAergic interneuron migration|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|mating behavior|positive regulation of cAMP biosynthetic process|positive regulation of cell migration|positive regulation of potassium ion transport|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of synaptic transmission, glutamatergic|prepulse inhibition|response to drug|synapse assembly|visual learning	endoplasmic reticulum membrane|membrane fraction	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(89;0.00895)|Renal(175;0.000159)|Lung NSC(126;0.00625)|all_lung(126;0.0104)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)		Acetophenazine(DB01063)|Amantadine(DB00915)|Apomorphine(DB00714)|Carphenazine(DB01038)|Chlorprothixene(DB01239)|Clozapine(DB00363)|Cocaine(DB00907)|Dopamine(DB00988)|Fenoldopam(DB00800)|Flupenthixol(DB00875)|Fluphenazine(DB00623)|Haloperidol(DB00502)|Levodopa(DB01235)|Lisuride(DB00589)|Loxapine(DB00408)|Methylergonovine(DB00353)|Minaprine(DB00805)|Olanzapine(DB00334)|Pegademase bovine(DB00061)|Pergolide(DB01186)|Perphenazine(DB00850)|Prochlorperazine(DB00433)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Triflupromazine(DB00508)|Zuclopenthixol(DB01624)	ATTATTCGTCGCAGGGCAAAG	0.478													A	174869045	G	A	174869045	3	1	220	1	0	0	0	0	1	0	0	0	4795	1087	38	1	286	1	DRD1	5	174869045	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	34117290	174869045	6046215	27	15020											
NKAPL	222698	broad.mit.edu	37	chr6	28227813	28227813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgatgatgataaaaagAgagttaaagccaagaagaaa	21	7	9	4	0	1	6	0	3	1	3	1	7	1	6	1	0	1	1	1	0	8	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:28227813A>G	uc003nkt.3	+	0	716	c.664A>G	c.(664-666)Aga>Gga	p.R222G	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	222	Lys-rich.									breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						TGATAAAAAGAGAGTTAAAGC	0.313													G	28227813	A	G	28227813	3	3	220	1	0	0	0	0	1	0	0	0	10516	296	11	3	666	3	NKAPL	6	28227813	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08		28227813	142887254	28	15021											
PPP1R10	5514	broad.mit.edu	37	chr6	30573989	30573989	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcattcttcttcacAggcaccaaggatggtgtctc	7	12	11	11	0	4	0	1	0	3	0	5	1	4	1	1	4	1	3	1	4	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:30573989A>G	uc003nqn.1	-	8	1218	c.666T>C	c.(664-666)ccT>ccC	p.P222P	PPP1R10_uc010jsc.1_5'UTR	NM_002714	NP_002705	Q96QC0	PP1RA_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 10 (PPP1R10), mRNA.	222	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TCTTCTTCACAGGCACCAAGG	0.527													G	30573989	A	G	30573989	2	3	220	1	0	0	0	0	0	0	0	1	12434	175	7	3		3	PPP1R10	6	30573989	Silent	SNP	A	TCGA-28-6450-01A-11D-1696-08	2346176	30573989	140541078	29	15022											
COL11A2	1302	broad.mit.edu	37	chr6	33141808	33141808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtggggccccgttctccccGaggccctgacttccccgaca	4	7	11	19	4	1	1	0	1	1	0	3	3	2	1	7	3	0	1	7	3	0	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:33141808G>A	uc003ocx.1	-	32	2737	c.2509C>T	c.(2509-2511)Cgg>Tgg	p.R837W	COL11A2_uc010jul.1_Intron|COL11A2_uc003ocy.1_Missense_Mutation_p.R751W|COL11A2_uc003ocz.1_Missense_Mutation_p.R730W	NM_080680	NP_542411	P13942	COBA2_HUMAN	Homo sapiens collagen, type XI, alpha 2 (COL11A2), transcript variant 1, mRNA.	837	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging	p.P836S(1)		biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CGTTCTCCCCGAGGCCCTGAC	0.612													A	33141808	G	A	33141808	3	1	220	1	0	0	0	0	1	0	0	0	3699	1057	37	1	2837	1	COL11A2	6	33141808	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	2567819	33141808	137973259	30	15023											
NOX3	50508	broad.mit.edu	37	chr6	155743956	155743957	+	Missense_Mutation	DNP	TC	TC	AA																															tgggtagtgaaatacatctgTcagggcagttccaaagggcc																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr6:155743956_155743957TC>AA	uc003qqm.3	-	9	1282_1283	c.1179_1180GA>TT	c.(1177-1182)ctgaca>ctTTca	p.T394S		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	394	FAD-binding FR-type.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		AATACATCTGTCAGGGCAGTTC	0.52													AA	155743957	TC	AA	155743956	3	1	220	1	0	0	0	0	1	0	0	0	10633	1667	58	5	542	5	NOX3	6	155743956	Missense_Mutation	DNP	TC	TCGA-28-6450-01A-11D-1696-08	122602148	155743956	15371111	31	15024											
PPP1R9A	55607	broad.mit.edu	37	chr7	94827740	94827740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacactggaacaggagaggCgccagagagagctgctggaa	14	3	16	8	1	0	4	0	0	0	4	0	8	0	6	1	4	3	2	1	4	2	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:94827740C>T	uc003unp.3	+	5	2116	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	PPP1R9A_uc010lfj.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kif.2_Missense_Mutation_p.R612C|PPP1R9A_uc003unq.3_Missense_Mutation_p.R612C|PPP1R9A_uc011kig.2_Missense_Mutation_p.R612C	NM_017650	NP_060120	Q9ULJ8	NEB1_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 9A (PPP1R9A), transcript variant 4, mRNA.	612	Interacts with TGN38 (By similarity).					cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			ACAGGAGAGGCGCCAGAGAGA	0.478										HNSCC(28;0.073)			T	94827740	C	T	94827740	3	4	220	1	0	0	0	0	1	0	0	0	12460	768	27	1	1852	1	PPP1R9A	7	94827740	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		94827740	64310923	32	15025											
EPHB6	2051	broad.mit.edu	37	chr7	142561895	142561895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactccacttctctgtgcggGcatgctccagcctgggtgtg	4	11	13	13	1	1	0	0	0	1	0	4	1	3	0	3	2	3	2	3	2	0	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr7:142561895G>A	uc011kst.2	+	6	1124	c.337G>A	c.(337-339)Gca>Aca	p.A113T	EPHB6_uc011ksu.2_Missense_Mutation_p.A113T|EPHB6_uc003wbs.3_5'UTR|EPHB6_uc003wbt.3_5'UTR|EPHB6_uc003wbu.3_5'UTR	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	113						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CTCTGTGCGGGCATGCTCCAG	0.657													A	142561895	G	A	142561895	3	1	220	1	0	0	0	0	1	0	0	0	5219	1203	42	2	347	2	EPHB6	7	142561895	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	47734155	142561895	16576768	33	15026											
IDO1	3620	broad.mit.edu	37	chr8	39781104	39781104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgtttcaccaaatccaCggcaagtgttgtgtgcagtg	10	11	11	9	1	1	0	1	0	0	0	2	0	2	0	2	1	1	4	2	1	3	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr8:39781104C>T	uc003xnm.3	+	7	769	c.655_splice	c.e7+1	p.D219_splice		NM_002164	NP_002155	P14902	I23O1_HUMAN	Homo sapiens indoleamine 2,3-dioxygenase 1 (IDO1), mRNA.	219					female pregnancy|tryptophan catabolic process	cytosol	electron carrier activity|heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(2)	12					L-Tryptophan(DB00150)	ACCAAATCCACGGCAAGTGTT	0.433													T	39781104	C	T	39781104	2	4	220	1	0	0	0	0	0	0	0	1	7559	550	19	1		1	IDO1	8	39781104	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		39781104	106582918	34	15027											
TAF1L	138474	broad.mit.edu	37	chr9	32632187	32632187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagctgagagctggtttTcttgttctgcaacatgttct	7	16	10	8	0	3	2	0	2	3	1	3	3	3	2	0	1	4	6	0	1	1	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:32632187T>C	uc003zrg.1	-	0	3481	c.3391A>G	c.(3391-3393)Aaa>Gaa	p.K1131E	AX747113_uc003zrh.1_5'Flank	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like (TAF1L), mRNA.	1131					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GAGCTGGTTTTCTTGTTCTGC	0.468													C	32632187	T	C	32632187	3	2	220	1	0	0	0	0	1	0	0	0	15620	1792	62	3	2093	3	TAF1L	9	32632187	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		32632187	108581244	35	15028											
GPR107	57720	broad.mit.edu	37	chr9	132842036	132842036	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcaggcaaccagaccCagaagacacaaggtaaaccg	16	3	9	13	1	1	3	1	0	0	3	1	3	1	3	3	2	3	3	3	2	5	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr9:132842036C>G	uc004bze.2	+	4	741	c.514C>G	c.(514-516)Cag>Gag	p.Q172E	GPR107_uc004bzb.2_5'UTR|GPR107_uc011mbx.1_Missense_Mutation_p.Q172E|GPR107_uc004bzd.2_Missense_Mutation_p.Q172E	NM_001136557	NP_001130029	Q5VW38	GP107_HUMAN	Homo sapiens G protein-coupled receptor 107 (GPR107), transcript variant 1, mRNA.	172						integral to membrane				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				CAACCAGACCCAGAAGACACA	0.433													G	132842036	C	G	132842036	3	3	220	1	0	0	0	0	1	0	0	0	6677	595	21	4	532	4	GPR107	9	132842036	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	100209849	132842036	8371395	36	15029											
CUBN	8029	broad.mit.edu	37	chr10	16873370	16873370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggcagcagagttccaCagtacttgcccagtaatggt	9	11	12	9	0	0	1	0	0	0	1	1	1	1	1	2	3	3	6	2	3	2	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:16873370C>T	uc001ioo.3	-	64	10461	c.10409G>A	c.(10408-10410)tGt>tAt	p.C3470Y		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3470	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CAGAGTTCCACAGTACTTGCC	0.368													T	16873370	C	T	16873370	3	4	220	1	0	0	0	0	1	0	0	0	4084	478	17	2	474	2	CUBN	10	16873370	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		16873370	118661377	37	15030											
ARMC3	219681	broad.mit.edu	37	chr10	23287264	23287264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttctgcaaacacagtcGtgcagagcaaagctgctctc	10	9	10	12	2	2	1	0	0	2	1	4	1	2	1	0	0	7	6	0	0	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr10:23287264G>A	uc001irm.4	+	10	1446	c.1363G>A	c.(1363-1365)Gtg>Atg	p.V455M	ARMC3_uc010qcv.2_Missense_Mutation_p.V455M|ARMC3_uc010qcw.2_Missense_Mutation_p.V192M	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	455							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AAACACAGTCGTGCAGAGCAA	0.498													A	23287264	G	A	23287264	3	1	220	1	0	0	0	0	1	0	0	0	957	1145	40	1	1401	1	ARMC3	10	23287264	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	6413894	23287264	112247483	38	15031											
MICAL2	9645	broad.mit.edu	37	chr11	12261088	12261088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatggcgaatcagctgctgGccaagtttgaggagagcact	10	8	13	10	1	1	2	1	1	0	1	1	4	1	2	2	3	3	4	2	3	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr11:12261088G>A	uc001mjz.3	+	16	2458	c.2170G>A	c.(2170-2172)Gcc>Acc	p.A724T	MICAL2_uc010rch.1_Missense_Mutation_p.A724T|MICAL2_uc001mka.3_Missense_Mutation_p.A724T|MICAL2_uc010rci.2_Missense_Mutation_p.A724T|MICAL2_uc001mkb.3_Missense_Mutation_p.A724T|MICAL2_uc001mkc.3_Missense_Mutation_p.A724T|MICAL2_uc001mkd.3_Missense_Mutation_p.A553T|MICAL2_uc010rcj.2_Missense_Mutation_p.A126T|MICAL2_uc001mkf.3_Non-coding_Transcript	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	724						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TCAGCTGCTGGCCAAGTTTGA	0.493													A	12261088	G	A	12261088	3	1	220	1	0	0	0	0	1	0	0	0	9645	1203	42	2	2228	2	MICAL2	11	12261088	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		12261088	122745428	39	15032											
ABCC9	10060	broad.mit.edu	37	chr12	21954093	21954093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaataaccaggtctgccGtcagaatagtgtgtactcga	12	10	9	10	2	3	1	2	0	1	1	4	2	3	1	2	1	3	1	2	1	5	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:21954093G>A	uc001rfh.3	-	37	4555	c.4535C>T	c.(4534-4536)aCg>aTg	p.T1512M		NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1512	ABC transporter 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGGTCTGCCGTCAGAATAGT	0.383													A	21954093	G	A	21954093	3	1	220	1	0	0	0	0	1	0	0	0	59	1145	40	1	118	1	ABCC9	12	21954093	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		21954093	111897802	40	15033											
OR6C75	390323	broad.mit.edu	37	chr12	55758950	55758950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggattgacaagtgaccCacagtggcaggttgtacttt	9	13	11	8	0	1	2	0	2	1	0	1	3	1	3	1	3	1	3	1	3	2	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:55758950C>T	uc010spk.2	+	0	56	c.56C>T	c.(55-57)cCa>cTa	p.P19L		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						ACAAGTGACCCACAGTGGCAG	0.363													T	55758950	C	T	55758950	3	4	220	1	0	0	0	0	1	0	0	0	11275	594	21	2	58	2	OR6C75	12	55758950	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	33804857	55758950	78092945	41	15034											
CUX2	23316	broad.mit.edu	37	chr12	111742051	111742051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggaggtggaaagtctccGggaacagctggcctctgtca	8	7	16	10	2	3	0	1	0	2	0	4	3	3	3	2	5	2	1	2	5	2	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr12:111742051G>A	uc001tsa.2	+	9	945	c.791G>A	c.(790-792)cGg>cAg	p.R264Q		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	264						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAAAGTCTCCGGGAACAGCTG	0.652													A	111742051	G	A	111742051	3	1	220	1	0	0	0	0	1	0	0	0	4098	1116	39	1	829	1	CUX2	12	111742051	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	55983101	111742051	22109844	42	15035											
LCP1	3936	broad.mit.edu	37	chr13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtacaaatgattgactcGagggttaacacccagggagt	12	9	11	9	1	0	2	0	2	0	0	1	4	0	3	2	2	2	2	2	2	3	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr13:46718596G>A	uc001vaz.4	-	10	1360	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_uc010ack.3_5'Flank|LCP1_uc001vay.4_Nonsense_Mutation_p.R9*|LCP1_uc001vba.4_Nonsense_Mutation_p.R412*	NM_002298	NP_002289	P13796	PLSL_HUMAN	Homo sapiens lymphocyte cytosolic protein 1 (L-plastin) (LCP1), mRNA.	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL								A	46718596	G	A	46718596	4	1	220	1	0	0	0	0	0	1	0	0	8750	1066	37	1	673	1	LCP1	13	46718596	Nonsense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08		46718596	68451282	43	15036											
RGS6	9628	broad.mit.edu	37	chr14	72943451	72943451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgcttgcttcttctcctagtCcgtgtatggcgtgactgaag	5	15	11	10	2	2	2	0	2	2	0	4	2	3	2	2	1	2	3	2	1	3	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr14:72943451C>G	uc001xna.4	+	11	1217	c.694_splice	c.e11-1	p.S232_splice	RGS6_uc021rvv.1_Splice_Site_p.S197_splice|RGS6_uc010ttn.2_Splice_Site_p.S232_splice|RGS6_uc021rvw.1_Splice_Site_p.S232_splice|RGS6_uc021rvx.1_Splice_Site_p.S232_splice|RGS6_uc021rvy.1_Splice_Site_p.S232_splice|RGS6_uc021rvz.1_Splice_Site_p.S232_splice|RGS6_uc001xmy.4_Splice_Site_p.S232_splice|RGS6_uc010tto.2_Splice_Site|RGS6_uc001xmx.4_Splice_Site_p.S232_splice|RGS6_uc021rwa.1_Splice_Site_p.S232_splice|RGS6_uc021rwb.1_Splice_Site_p.S232_splice|RGS6_uc010ttp.1_Splice_Site_p.S163_splice|RGS6_uc021rwc.1_Splice_Site_p.S93_splice	NM_001204423	NP_001191352	P49758	RGS6_HUMAN	Homo sapiens regulator of G-protein signaling 6 (RGS6), transcript variant 9, mRNA.	232					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TTCTCCTAGTCCGTGTATGGC	0.517													G	72943451	C	G	72943451	3	3	220	1	0	0	0	0	1	0	0	0	13398	869	30	4	733	4	RGS6	14	72943451	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		72943451	34406089	44	15037											
CCPG1	9236	broad.mit.edu	37	chr15	55652658	55652658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacgctgctgttcgaaggttAgcttccgttccagctcagtg	7	12	11	11	3	1	0	1	0	0	0	4	1	3	0	2	1	4	7	2	1	3	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:55652658A>G	uc010bfk.2	-	7	1612	c.1313T>C	c.(1312-1314)cTa>cCa	p.L438P	CCPG1_uc002acy.3_Missense_Mutation_p.L438P|CCPG1_uc002acu.2_Missense_Mutation_p.L294P|CCPG1_uc002acz.2_Missense_Mutation_p.L438P|CCPG1_uc002acw.2_Missense_Mutation_p.L163P|CCPG1_uc002acx.3_Intron|CCPG1_uc002acv.2_Missense_Mutation_p.L438P|CCPG1_uc021smu.1_Missense_Mutation_p.L58P	NM_001204450	NP_001191379	Q9ULG6	CCPG1_HUMAN	Homo sapiens cell cycle progression 1 (CCPG1), transcript variant 3, mRNA.	438					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		TTCGAAGGTTAGCTTCCGTTC	0.413													G	55652658	A	G	55652658	3	3	220	1	0	0	0	0	1	0	0	0	2968	420	15	3	964	3	CCPG1	15	55652658	Missense_Mutation	SNP	A	TCGA-28-6450-01A-11D-1696-08		55652658	46878734	45	15038											
POLG	5428	broad.mit.edu	37	chr15	89876416	89876416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagggcccgctcctcGgggatggccacgggtacggc	7	4	15	15	4	0	0	0	0	0	0	2	1	1	1	4	6	2	2	4	6	2	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr15:89876416G>A	uc002bns.4	-	1	852	c.570C>T	c.(568-570)ccC>ccT	p.P190P	POLG_uc002bnr.4_Silent_p.P190P|TRNA_Arg_uc021sue.1_5'Flank	NM_002693	NP_002684	P54098	DPOG1_HUMAN	Homo sapiens polymerase (DNA directed), gamma (POLG), transcript variant 1, mRNA.	190					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCCGCTCCTCGGGGATGGCCA	0.711								DNA polymerases (catalytic subunits)					A	89876416	G	A	89876416	2	1	220	1	0	0	0	0	0	0	0	1	12277	1103	39	1		1	POLG	15	89876416	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	34223758	89876416	12654976	46	15039											
IFT140	9742	broad.mit.edu	37	chr16	1574572	1574572	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgcacaggcggatggcaTtcttgaaggcctgtgcccgg	6	9	14	12	2	1	1	0	1	1	0	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:1574572T>A	uc002cmb.3	-	23	3484	c.3122A>T	c.(3121-3123)aAt>aTt	p.N1041I	IFT140_uc002clz.3_Missense_Mutation_p.N654I	NM_014714	NP_055529	Q96RY7	IF140_HUMAN	Homo sapiens intraflagellar transport 140 homolog (Chlamydomonas) (IFT140), mRNA.	1041										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCGGATGGCATTCTTGAAGGC	0.652													A	1574572	T	A	1574572	3	1	220	1	0	0	0	0	1	0	0	0	7614	1493	52	5	1298	5	IFT140	16	1574572	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		1574572	88780181	47	15040											
ZNF768	79724	broad.mit.edu	37	chr16	30535896	30535897	+	Missense_Mutation	DNP	AA	AA	GC																															tgaggtcggagctctgggagAaggcctttccgcagtcatcg																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30535896_30535897AA>GC	uc002dyk.4	-	1	1740_1741	c.1564_1565TT>GC	c.(1564-1566)ttc>GCc	p.F522A	ZNF768_uc010vex.2_Missense_Mutation_p.F491A|ZNF768_uc010vew.2_Missense_Mutation_p.F491A	NM_024671	NP_078947	Q9H5H4	ZN768_HUMAN	Homo sapiens zinc finger protein 768 (ZNF768), mRNA.	522					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGGAGAAGGCCTTTCCG	0.678													GC	30535897	AA	GC	30535896	3	3	220	1	0	0	0	0	1	0	0	0	18241	246	9	3	61	3	ZNF768	16	30535896	Missense_Mutation	DNP	AA	TCGA-28-6450-01A-11D-1696-08	28961324	30535896	59818857	48	15041											
ZNF629	23361	broad.mit.edu	37	chr16	30795519	30795519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgggtctcccatgatgaTctcctccccagaactttcct	7	11	7	16	1	2	3	0	2	2	1	6	3	4	3	6	1	2	0	6	1	1	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:30795519T>G	uc002dzs.1	-	2	338	c.130A>C	c.(130-132)Atc>Ctc	p.I44L		NM_001080417	NP_001073886	Q9UEG4	ZN629_HUMAN	Homo sapiens zinc finger protein 629 (ZNF629), mRNA.	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCATGATGATCTCCTCCCCA	0.577													G	30795519	T	G	30795519	3	3	220	1	0	0	0	0	1	0	0	0	18154	1435	50	5	2483	5	ZNF629	16	30795519	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	259623	30795519	59559234	49	15042											
PKD1L2	114780	broad.mit.edu	37	chr16	81151072	81151072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagctggccaggatgatgGccagctccagaaggttccac	9	7	12	13	0	0	2	0	1	0	1	3	3	3	3	5	4	2	3	5	4	1	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr16:81151072G>A	uc002fgh.1	-	40	6671	c.6671C>T	c.(6670-6672)gCc>gTc	p.A2224V	PKD1L2_uc002fgf.1_Missense_Mutation_p.A26V|PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	2226					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGGATGATGGCCAGCTCCAG	0.612													A	81151072	G	A	81151072	3	1	220	1	0	0	0	0	1	0	0	0	12042	1203	42	2	722	2	PKD1L2	16	81151072	Missense_Mutation	SNP	G	TCGA-28-6450-01A-11D-1696-08	50355553	81151072	9203681	50	15043											
NF1	4763	broad.mit.edu	37	chr17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-																															tacatcaattgggaagataaCtctgtcattttcctacttgt																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29527568_29527569delCT	uc002hgg.3	+	8	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.N339fs	NF1_uc002hge.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgf.2_Frame_Shift_Del_p.N339fs|NF1_uc002hgh.3_Frame_Shift_Del_p.N339fs|NF1_uc010csn.2_Frame_Shift_Del_p.N199fs	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	339					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29527569	CT	-	29527568	7	5	220	1	0	1	0	1	0	0	0	0	10432	564	20	0	1051	0	NF1	17	29527568	Frame_Shift_Del	DEL	CT	TCGA-28-6450-01A-11D-1696-08		29527568	51667642	51	15044											
NF1	4763	broad.mit.edu	37	chr17	29684388	29684391	+	Splice_Site	DEL	GTAA	GTAA	-																															cccaaagtctttcctgttgtGtaagtatctccttttgattt																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:29684388_29684391delGTAA	uc002hgg.3	+	54	8353	c.7970_splice	c.e54+1	p.V2657_splice	NF1_uc002hgh.3_Splice_Site_p.V2636_splice|NF1_uc010cso.3_Splice_Site_p.V845_splice|NF1_uc010wbt.1_Splice_Site_p.V135_splice|NF1_uc010wbu.1_Splice_Site	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2657					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCCTGTTGTGTAAGTATCTCCTT	0.377			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29684391	GTAA	-	29684388	8	5	220	1	0	1	0	1	0	0	1	0	10432	1391	48	0	8246	0	NF1	17	29684388	Splice_Site	DEL	GTAA	TCGA-28-6450-01A-11D-1696-08	156820	29684388	51510822	52	15045											
KRT31	3881	broad.mit.edu	37	chr17	39550299	39550299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaattgcagggcccacagCgggggcgtggggcacagggt	8	4	20	9	2	0	0	0	0	0	0	0	1	0	1	1	7	2	2	1	7	1	1			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr17:39550299C>T	uc002hwn.3	-	6	1273	c.1220G>A	c.(1219-1221)cGc>cAc	p.R407H	KRT31_uc010cxn.3_3'UTR	NM_002277	NP_002268	Q15323	K1H1_HUMAN	Homo sapiens keratin 31 (KRT31), mRNA.	407	Tail.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.P406A(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GGGCCCACAGCGGGGGCGTGG	0.632													T	39550299	C	T	39550299	3	4	220	1	0	0	0	0	1	0	0	0	8525	768	27	1	34	1	KRT31	17	39550299	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	9865911	39550299	41644911	53	15046											
LAMA1	284217	broad.mit.edu	37	chr18	6985300	6985300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagctctgtagaccaggtCgactgcgttcctttgggaca	7	11	11	12	2	2	1	1	0	1	1	4	3	3	2	2	2	2	3	2	2	1	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:6985300C>T	uc002knm.3	-	38	5690	c.5596G>A	c.(5596-5598)Gac>Aac	p.D1866N	LAMA1_uc010wzj.2_Missense_Mutation_p.D1342N	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1866	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TAGACCAGGTCGACTGCGTTC	0.507													T	6985300	C	T	6985300	3	4	220	1	0	0	0	0	1	0	0	0	8664	884	31	1	3731	1	LAMA1	18	6985300	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08		6985300	71091948	54	15047											
ME2	4200	broad.mit.edu	37	chr18	48450505	48450505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatagttatcaggaaccatTtactcactcagccccagaga	14	9	7	11	0	3	2	3	0	0	2	3	4	3	3	3	1	3	1	3	1	4	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr18:48450505T>G	uc002ley.3	+	10	1353	c.1094T>G	c.(1093-1095)tTt>tGt	p.F365C	ME2_uc010dpd.3_Missense_Mutation_p.F365C	NM_002396	NP_002387	P23368	MAOM_HUMAN	Homo sapiens malic enzyme 2, NAD(+)-dependent, mitochondrial (ME2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	365					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	CAGGAACCATTTACTCACTCA	0.313													G	48450505	T	G	48450505	3	3	220	1	0	0	0	0	1	0	0	0	9493	1841	64	5	1132	5	ME2	18	48450505	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	41465205	48450505	29626743	55	15048											
ZNF350	59348	broad.mit.edu	37	chr19	52472376	52472376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagccacatcctccagtgtTatggattcctgtaataacag	12	11	7	11	0	0	0	0	0	0	0	3	1	3	1	4	1	2	2	4	1	3	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:52472376T>C	uc002pyd.3	-	2	252	c.24A>G	c.(22-24)atA>atG	p.I8M	BC014606_uc002pyc.3_Intron	NM_021632	NP_067645	Q9GZX5	ZN350_HUMAN	Homo sapiens zinc finger protein 350 (ZNF350), mRNA.	8	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		CCTCCAGTGTTATGGATTCCT	0.453													C	52472376	T	C	52472376	3	2	220	1	0	0	0	0	1	0	0	0	17964	1744	61	3	1586	3	ZNF350	19	52472376	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08		52472376	6656607	56	15049											
PEG3	5178	broad.mit.edu	37	chr19	57327924	57327924	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtctccccacacaccttaCattcgtacattttctcttta	10	15	2	14	1	2	0	0	0	2	0	5	0	2	0	3	0	2	1	3	0	4	7	rs140555816	by1000genomes	TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327924C>G	uc002qnu.2	-	6	2237	c.1886G>C	c.(1885-1887)tGt>tCt	p.C629S	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.C600S|PEG3_uc002qnv.2_Missense_Mutation_p.C629S|PEG3_uc002qnw.2_Missense_Mutation_p.C505S|PEG3_uc002qnx.2_Missense_Mutation_p.C503S|PEG3_uc010etr.2_Missense_Mutation_p.C629S	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	629					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		ACACACCTTACATTCGTACAT	0.443													G	57327924	C	G	57327924	3	3	220	1	0	0	0	0	1	0	0	0	11796	478	17	4	2884	4	PEG3	19	57327924	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	4855548	57327924	1801059	57	15050			1	37		4	4	621	C		4.003519e-10
PEG3	5178	broad.mit.edu	37	chr19	57327945	57327945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attcgtacattttctctttaCcatacattttctgaaactca	11	18	2	10	1	3	1	1	1	2	0	5	1	3	1	1	0	4	1	1	0	4	9			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57327945C>G	uc002qnu.2	-	6	2216	c.1865G>C	c.(1864-1866)gGt>gCt	p.G622A	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.G593A|PEG3_uc002qnv.2_Missense_Mutation_p.G622A|PEG3_uc002qnw.2_Missense_Mutation_p.G498A|PEG3_uc002qnx.2_Missense_Mutation_p.G496A|PEG3_uc010etr.2_Missense_Mutation_p.G622A	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	622					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y621Y(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TTTCTCTTTACCATACATTTT	0.443													G	57327945	C	G	57327945	3	3	220	1	0	0	0	0	1	0	0	0	11796	507	18	4	2905	4	PEG3	19	57327945	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	21	57327945	1801038	58	15051			1	37		4	4	621	C		4.003519e-10
PEG3	5178	broad.mit.edu	37	chr19	57328102	57328102	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agaactatgaaggaaggtttCcttacacaccctgcactcgt	12	10	8	11	1	0	2	0	1	0	1	2	3	1	3	2	2	3	2	2	2	5	3			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328102C>G	uc002qnu.2	-	6	2059	c.1708G>C	c.(1708-1710)Gaa>Caa	p.E570Q	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.E541Q|PEG3_uc002qnv.2_Missense_Mutation_p.E570Q|PEG3_uc002qnw.2_Missense_Mutation_p.E446Q|PEG3_uc002qnx.2_Missense_Mutation_p.E444Q|PEG3_uc010etr.2_Missense_Mutation_p.E570Q	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	570					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AGGAAGGTTTCCTTACACACC	0.448													G	57328102	C	G	57328102	3	3	220	1	0	0	0	0	1	0	0	0	11796	864	30	4	3062	4	PEG3	19	57328102	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	157	57328102	1800881	59	15052			1	37		4	4	621	C		4.003519e-10
PEG3	5178	broad.mit.edu	37	chr19	57328544	57328544	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcacgctcatggcttttctCatctcactaccacattcaaa	10	13	3	15	1	5	0	5	0	2	0	7	0	5	0	1	1	1	2	1	1	2	4			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr19:57328544C>G	uc002qnu.2	-	6	1617	c.1266G>C	c.(1264-1266)atG>atC	p.M422I	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.M393I|PEG3_uc002qnv.2_Missense_Mutation_p.M422I|PEG3_uc002qnw.2_Missense_Mutation_p.M298I|PEG3_uc002qnx.2_Missense_Mutation_p.M296I|PEG3_uc010etr.2_Missense_Mutation_p.M422I	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	422					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.E421E(1)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TGGCTTTTCTCATCTCACTAC	0.493													G	57328544	C	G	57328544	3	3	220	1	0	0	0	0	1	0	0	0	11796	826	29	4	3504	4	PEG3	19	57328544	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	442	57328544	1800439	60	15053			1	37		4	4	621	C		4.003519e-10
SLC12A5	57468	broad.mit.edu	37	chr20	44669236	44669236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggtcatcaagtctgccttCgacccacccaacttcccgtg	7	9	9	16	2	3	0	2	0	1	0	5	1	4	0	4	2	2	0	4	2	2	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:44669236C>T	uc010zxl.1	+	6	982	c.906C>T	c.(904-906)ttC>ttT	p.F302F	SLC12A5_uc002xra.2_Silent_p.F279F|SLC12A5_uc010zxm.1_Intron|SLC12A5_uc002xrb.2_Silent_p.F279F	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	302					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	AGTCTGCCTTCGACCCACCCA	0.557													T	44669236	C	T	44669236	2	4	220	1	0	0	0	0	0	0	0	1	14480	883	31	1		1	SLC12A5	20	44669236	Silent	SNP	C	TCGA-28-6450-01A-11D-1696-08		44669236	18356284	61	15054											
STAU1	6780	broad.mit.edu	37	chr20	47734907	47734907	+	Frame_Shift_Del	DEL	G	G	-																															ccagagccaggttcaaaaaaGgttacttttcttccatcccc																										TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chr20:47734907delG	uc002xud.3	-	9	1563	c.1152delC	c.(1150-1152)accfs	p.T384fs	STAU1_uc002xua.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xub.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xuc.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xue.3_Frame_Shift_Del_p.T303fs|STAU1_uc002xuf.3_Frame_Shift_Del_p.T309fs|STAU1_uc002xug.3_Frame_Shift_Del_p.T384fs	NM_017453	NP_059348	O95793	STAU1_HUMAN	Homo sapiens staufen, RNA binding protein, homolog 1 (Drosophila) (STAU1), transcript variant T3, mRNA.	384				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTCAAAAAAGGTTACTTTTC	0.388													-	47734907	G	-	47734907	7	5	220	1	0	1	0	1	0	0	0	0	15368	987	35	0	601	0	STAU1	20	47734907	Frame_Shift_Del	DEL	G	TCGA-28-6450-01A-11D-1696-08	3065671	47734907	15290613	62	15055											
KLHL34	257240	broad.mit.edu	37	chrX	21675508	21675508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgctgccacgttggcggcGaagcagcagttctctggagc	6	7	15	13	5	1	0	0	0	1	0	2	2	1	1	1	3	4	5	1	3	1	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:21675508G>A	uc004czz.1	-	0	941	c.399C>T	c.(397-399)ttC>ttT	p.F133F		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	133	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGTTGGCGGCGAAGCAGCAGT	0.697													A	21675508	G	A	21675508	2	1	220	1	0	0	0	0	0	0	0	1	8445	1049	37	1		1	KLHL34	23	21675508	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08		21675508	133595052	63	15056											
GPR34	2857	broad.mit.edu	37	chrX	41555067	41555067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactgtgttaaccacatccTactctgttattttcatcgtg	8	17	5	11	1	2	0	1	0	1	0	4	0	3	0	2	0	3	2	2	0	4	6			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:41555067T>C	uc022bvc.1	+	0	181	c.181T>C	c.(181-183)Tac>Cac	p.Y61H	CASK_uc004dfl.4_Intron|CASK_uc004dfm.4_Intron|CASK_uc004dfn.4_Intron|GPR34_uc004dfp.4_Missense_Mutation_p.Y61H|GPR34_uc004dfq.4_Missense_Mutation_p.Y61H|GPR34_uc010nhg.3_Missense_Mutation_p.Y61H|GPR34_uc004dfr.4_Missense_Mutation_p.Y61H	NM_005300	NP_005291	Q9UPC5	GPR34_HUMAN	Homo sapiens G protein-coupled receptor 34 (GPR34), transcript variant 1, mRNA.	61						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACCACATCCTACTCTGTTAT	0.398													C	41555067	T	C	41555067	3	2	220	1	0	0	0	0	1	0	0	0	6743	1522	53	3	183	3	GPR34	23	41555067	Missense_Mutation	SNP	T	TCGA-28-6450-01A-11D-1696-08	19879559	41555067	113715493	64	15057											
MAGEC3	139081	broad.mit.edu	37	chrX	140967026	140967026	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattttgggagtcagccGgaggggaagttttctctgag	7	13	15	6	1	2	1	1	1	1	0	3	4	2	4	1	4	2	2	1	4	1	5			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:140967026G>A	uc011mwp.2	+	2	324	c.324G>A	c.(322-324)ccG>ccA	p.P108P		NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	108										NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCAGCCGGAGGGGAAGT	0.562													A	140967026	G	A	140967026	2	1	220	1	0	0	0	0	0	0	0	1	9257	1103	39	1		1	MAGEC3	23	140967026	Silent	SNP	G	TCGA-28-6450-01A-11D-1696-08	99411959	140967026	14303534	65	15058											
ZNF275	10838	broad.mit.edu	37	chrX	152612297	152612297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcacctccgcgacccgaCaccagatgaagggggaagat	14	3	12	12	3	0	3	0	1	0	2	1	6	1	4	4	2	1	1	4	2	3	0			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:152612297C>T	uc011myn.2	+	1					ZNF275_uc004fhg.2_Missense_Mutation_p.H52Y|ZNF275_uc022cht.1_5'UTR|ZNF275_uc022chu.1_5'Flank	NM_001080485	NP_001073954	A6NFS0	A6NFS0_HUMAN	Homo sapiens zinc finger protein 275 (ZNF275), mRNA.							intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGACCCGACACCAGATGAA	0.552													T	152612297	C	T	152612297	3	4	220	1	0	0	0	0	1	0	0	0	17911	478	17	2	164	2	ZNF275	23	152612297	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	11645271	152612297	2658263	66	15059											
L1CAM	3897	broad.mit.edu	37	chrX	153128302	153128302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccaggggcttgatgtccCcgttgagcgatggctggctg	4	10	16	11	2	0	2	0	2	0	0	1	3	1	2	3	4	2	4	3	4	0	2			TCGA-28-6450-01A-11D-1696-08	TCGA-28-6450-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5f10d0c5-05b8-44bb-98ce-bbea41820850	502b40b2-43eb-4d96-bce9-8ea7b8ee2289	g.chrX:153128302C>T	uc004fjb.3	-	27	3698	c.3590G>A	c.(3589-3591)gGg>gAg	p.G1197E	L1CAM_uc004fjc.3_Missense_Mutation_p.G1193E|L1CAM_uc010nuo.3_Missense_Mutation_p.G1188E	NM_000425	NP_000416	P32004	L1CAM_HUMAN	Homo sapiens L1 cell adhesion molecule (L1CAM), transcript variant 1, mRNA.	1197					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTGATGTCCCCGTTGAGCGA	0.607													T	153128302	C	T	153128302	3	4	220	1	0	0	0	0	1	0	0	0	8647	623	22	2	187	2	L1CAM	23	153128302	Missense_Mutation	SNP	C	TCGA-28-6450-01A-11D-1696-08	516005	153128302	2142258	67	15060											
TNFRSF8	943	broad.mit.edu	37	chr1	12164492	12164492	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcccgtgtctgcgaatgtCgacccggcatgttctgttcc	4	12	10	15	4	2	0	0	0	2	0	5	2	4	0	4	1	1	3	4	1	1	2	rs148756853		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:12164492C>T	uc001atq.3	+	3	547	c.325C>T	c.(325-327)Cga>Tga	p.R109*	TNFRSF8_uc010obc.2_5'UTR	NM_001243	NP_001234	P28908	TNR8_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 8 (TNFRSF8), transcript variant 1, mRNA.	109					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCGAATGTCGACCCGGCAT	0.577													T	12164492	C	T	12164492	4	4	221	1	0	0	0	0	0	1	0	0	16399	876	31	1	339	1	TNFRSF8	1	12164492	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		12164492	237086129	1	15061											
DPH2	1802	broad.mit.edu	37	chr1	44437537	44437537	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtgttggccctggggcgGcccacccctgccaagcttgc	4	9	13	15	1	0	0	0	0	0	0	0	0	0	0	5	4	3	2	5	4	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:44437537G>T	uc001ckz.3	+	3	1158	c.963G>T	c.(961-963)cgG>cgT	p.R321R	DPH2_uc001cla.3_Intron|DPH2_uc010okk.2_Silent_p.R186R|DPH2_uc001clb.3_Silent_p.R245R	NM_001384	NP_001375	Q9BQC3	DPH2_HUMAN	Homo sapiens DPH2 homolog (S. cerevisiae) (DPH2), transcript variant 1, mRNA.	321					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				CCCTGGGGCGGCCCACCCCTG	0.607													T	44437537	G	T	44437537	2	4	221	1	0	0	0	0	0	0	0	1	4759	1190	42	4		4	DPH2	1	44437537	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	32273045	44437537	204813084	2	15062											
PTGFR	5737	broad.mit.edu	37	chr1	79002163	79002163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaacactttttgctctcCgaatggcaacatggaatcaa	15	10	6	10	1	2	0	1	0	1	0	3	2	2	1	1	2	4	2	1	2	6	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:79002163C>T	uc001din.3	+	2	1137	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PTGFR_uc001dim.3_3'UTR	NM_000959	NP_000950	P43088	PF2R_HUMAN	Homo sapiens prostaglandin F receptor (FP) (PTGFR), transcript variant 1, mRNA.	291					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity	p.R291R(1)|p.R290M(1)		breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	TTTTGCTCTCCGAATGGCAAC	0.388													T	79002163	C	T	79002163	4	4	221	1	0	0	0	0	0	1	0	0	12835	644	23	1	952	1	PTGFR	1	79002163	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	34564626	79002163	170248458	3	15063											
HRNR	388697	broad.mit.edu	37	chr1	152193260	152193260	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacccatgctgaccatagCtggaagacgaacctgagcta	13	6	10	12	1	0	4	0	2	0	2	0	6	0	5	3	1	4	3	3	1	4	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:152193260C>G	uc001ezt.1	-	2	921	c.845G>C	c.(844-846)aGc>aCc	p.S282T		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	282					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGACCATAGCTGGAAGACGA	0.587													G	152193260	C	G	152193260	3	3	221	1	0	0	0	0	1	0	0	0	7414	797	28	4	7711	4	HRNR	1	152193260	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	73191097	152193260	97057361	4	15064											
IQGAP3	128239	broad.mit.edu	37	chr1	156518190	156518190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgagggggcagccaggagGttgctcccagatcccctgga	7	7	16	11	0	0	2	0	1	0	1	2	4	2	4	4	5	2	4	4	5	0	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:156518190G>C	uc001fpf.3	-	17	2158	c.2083C>G	c.(2083-2085)Cct>Gct	p.P695A		NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 3 (IQGAP3), mRNA.	695					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)					CAGCCAGGAGGTTGCTCCCAG	0.557													C	156518190	G	C	156518190	3	2	221	1	0	0	0	0	1	0	0	0	7874	1261	44	4	2896	4	IQGAP3	1	156518190	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	4324930	156518190	92732431	5	15065											
ASPM	259266	broad.mit.edu	37	chr1	197061071	197061071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaattaacctgcttgttaGcattcttcacagccaggtaa	11	13	7	10	0	2	1	1	1	1	0	2	1	2	1	2	1	4	4	2	1	4	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:197061071G>T	uc001gtu.3	-	21	9667	c.9410C>A	c.(9409-9411)gCt>gAt	p.A3137D	ASPM_uc001gtv.3_Missense_Mutation_p.A1552D|ASPM_uc001gtw.4_Missense_Mutation_p.A985D	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3137					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTGCTTGTTAGCATTCTTCAC	0.338													T	197061071	G	T	197061071	3	4	221	1	0	0	0	0	1	0	0	0	1061	971	34	4	1051	4	ASPM	1	197061071	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	40542881	197061071	52189550	6	15066											
OR2W5	441932	broad.mit.edu	37	chr1	247654810	247654810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaccgctatgtggccgtctgCcggtccctgcactacatggc	5	9	12	15	3	1	0	0	0	1	0	2	1	2	0	4	3	3	2	4	3	2	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:247654810C>T	uc001icz.2	+	0	441	c.381C>T	c.(379-381)tgC>tgT	p.C127C		NM_001004698	NP_001004698	A6NFC9	OR2W5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 5 (OR2W5), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TGGCCGTCTGCCGGTCCCTGC	0.587													T	247654810	C	T	247654810	2	4	221	1	0	0	0	0	0	0	0	1	11110	747	26	2		2	OR2W5	1	247654810	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	50593739	247654810	1595811	7	15067											
TRIM58	25893	broad.mit.edu	37	chr1	248039235	248039235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccgccacggcgcaccCgagtctgctcttgaccgccg	5	6	12	18	6	2	1	0	1	2	0	3	3	3	2	5	2	1	2	5	2	0	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248039235C>T	uc001ido.3	+	5	953	c.905C>T	c.(904-906)cCg>cTg	p.P302L	OR2W3_uc001idp.1_5'UTR	NM_015431	NP_056246	Q8NG06	TRI58_HUMAN	Homo sapiens tripartite motif containing 58 (TRIM58), mRNA.	302	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACGGCGCACCCGAGTCTGCTC	0.557													T	248039235	C	T	248039235	3	4	221	1	0	0	0	0	1	0	0	0	16632	652	23	1	927	1	TRIM58	1	248039235	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	384425	248039235	1211386	8	15068											
OR2L3	391192	broad.mit.edu	37	chr1	248224640	248224640	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttcatgttcctatggccgGgttctccttgctgtctacca	5	16	8	12	1	3	0	1	0	2	0	5	0	4	0	4	2	2	3	4	2	2	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248224640G>T	uc001idx.1	+	0	657	c.657G>T	c.(655-657)cgG>cgT	p.R219R	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTATGGCCGGGTTCTCCTTG	0.498													T	248224640	G	T	248224640	2	4	221	1	0	0	0	0	0	0	0	1	11084	1219	43	4		4	OR2L3	1	248224640	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	185405	248224640	1025981	9	15069											
OR2G6	391211	broad.mit.edu	37	chr1	248685400	248685400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggtggagcatggctcagCggcctcatcacctccctaat	7	8	11	15	2	3	0	3	0	0	0	4	1	4	1	4	4	2	2	4	4	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr1:248685400C>T	uc001ien.1	+	0	453	c.453C>T	c.(451-453)agC>agT	p.S151S		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CATGGCTCAGCGGCCTCATCA	0.577													T	248685400	C	T	248685400	2	4	221	1	0	0	0	0	0	0	0	1	11076	767	27	1		1	OR2G6	1	248685400	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	460760	248685400	565221	10	15070											
EHD3	30845	broad.mit.edu	37	chr2	31484475	31484475	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtgttcgggaaggacAacaagaagaaggagctggtc	12	6	15	8	2	0	2	0	0	0	2	3	5	0	5	1	5	2	2	1	5	5	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:31484475A>T	uc002rnu.3	+	4	1584	c.976A>T	c.(976-978)Aac>Tac	p.N326Y	EHD3_uc010ymt.2_Intron	NM_014600	NP_055415	Q9NZN3	EHD3_HUMAN	Homo sapiens EH-domain containing 3 (EHD3), mRNA.	326					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					CGGGAAGGACAACAAGAAGAA	0.552													T	31484475	A	T	31484475	3	4	221	1	0	0	0	0	1	0	0	0	5018	130	5	5	994	5	EHD3	2	31484475	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08		31484475	211714898	11	15071											
DPP10	57628	broad.mit.edu	37	chr2	116497460	116497460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaaggaaagcagtatccGtatcctaaggtaagtaacat	16	8	8	9	1	0	0	0	0	0	0	2	1	2	1	3	2	2	5	3	2	7	5	rs146251151		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:116497460G>A	uc002tle.3	+	8	876	c.855G>A	c.(853-855)ccG>ccA	p.P285P	DPP10_uc002tla.2_Silent_p.P281P|DPP10_uc002tlb.2_Silent_p.P231P|DPP10_uc002tlc.2_Silent_p.P277P|DPP10_uc002tlf.2_Silent_p.P274P	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	281					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGCAGTATCCGTATCCTAAGG	0.423													A	116497460	G	A	116497460	2	1	221	1	0	0	0	0	0	0	0	1	4766	1132	40	1		1	DPP10	2	116497460	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	85012985	116497460	126701913	12	15072											
UGGT1	56886	broad.mit.edu	37	chr2	128939777	128939777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggttacactcctttctGtgacagccgaagagaaatgg	11	12	10	8	1	1	2	0	1	1	1	2	4	2	2	2	2	2	1	2	2	4	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:128939777G>T	uc002tps.3	+	36	4335	c.4157G>T	c.(4156-4158)tGt>tTt	p.C1386F	UGGT1_uc002tpr.3_Missense_Mutation_p.C1362F	NM_020120	NP_064505	Q9NYU2	UGGG1_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 1 (UGGT1), transcript variant 1, mRNA.	1386	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCCTTTCTGTGACAGCCGA	0.418													T	128939777	G	T	128939777	3	4	221	1	0	0	0	0	1	0	0	0	17043	1377	48	4	4303	4	UGGT1	2	128939777	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	12442317	128939777	114259596	13	15073											
GCA	25801	broad.mit.edu	37	chr2	163204170	163204170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccagctatactcctcgatgGatactctgggccagcatatt	9	11	8	13	1	1	0	0	0	1	0	3	2	2	1	3	2	4	2	3	2	4	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:163204170G>C	uc002ucg.3	+	1	286	c.110G>C	c.(109-111)gGa>gCa	p.G37A		NM_012198	NP_036330	P28676	GRAN_HUMAN	Homo sapiens grancalcin, EF-hand calcium binding protein (GCA), mRNA.	37					cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity	p.G37*(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						CTCCTCGATGGATACTCTGGG	0.463													C	163204170	G	C	163204170	3	2	221	1	0	0	0	0	1	0	0	0	6337	1174	41	4	116	4	GCA	2	163204170	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	34264393	163204170	79995203	14	15074											
TTN	7273	broad.mit.edu	37	chr2	179598493	179598493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttttccgtcttctctgAtgacctcttgacctttcatc	5	19	5	12	1	4	4	1	4	3	0	7	4	5	4	3	0	0	0	3	0	0	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:179598493A>G	uc021vsy.1	-	49	12116	c.11891T>C	c.(11890-11892)aTc>aCc	p.I3964T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.I625T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	4891							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCTTCTCTGATGACCTCTTG	0.448													G	179598493	A	G	179598493	3	3	221	1	0	0	0	0	1	0	0	0	16837	333	12	3	89146	3	TTN	2	179598493	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	16394323	179598493	63600880	15	15075											
GLS	2744	broad.mit.edu	37	chr2	191765419	191765419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagcagtctggaggaaaGgtaatgcttttgatgtacat	15	11	11	4	0	1	1	0	1	1	0	1	3	1	3	0	3	3	4	0	3	5	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr2:191765419G>A	uc002usf.2	+	4	999	c.735_splice	c.e4+1	p.K245_splice	GLS_uc002use.2_Splice_Site_p.K245_splice	NM_014905	NP_055720	O94925	GLSK_HUMAN	Homo sapiens glutaminase (GLS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	245					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGAGGAAAGGTAATGCTTT	0.323													A	191765419	G	A	191765419	2	1	221	1	0	0	0	0	0	0	0	1	6519	1014	35	2		2	GLS	2	191765419	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	12166926	191765419	51433954	16	15076											
RBMS3	27303	broad.mit.edu	37	chr3	30032601	30032601	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgatacctctccccagaCagtggcaccttcatcccagg	8	9	8	16	0	2	2	1	1	1	1	4	2	3	2	5	2	2	2	5	2	1	2	rs143165101		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:30032601C>G	uc003cel.3	+	13	1578	c.1208C>G	c.(1207-1209)aCa>aGa	p.T403R	RBMS3_uc010hfq.3_Missense_Mutation_p.T400R|RBMS3_uc003cek.3_Missense_Mutation_p.T387R|RBMS3_uc010hfr.3_Missense_Mutation_p.T387R|RBMS3_uc003cem.3_Missense_Mutation_p.T385R	NM_001003793	NP_001003793	Q6XE24	RBMS3_HUMAN	Homo sapiens RNA binding motif, single stranded interacting protein 3 (RBMS3), transcript variant 1, mRNA.	403						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TCTCCCCAGACAGTGGCACCT	0.483													G	30032601	C	G	30032601	3	3	221	1	0	0	0	0	1	0	0	0	13238	478	17	4	1305	4	RBMS3	3	30032601	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		30032601	167989829	17	15077											
CCR9	10803	broad.mit.edu	37	chr3	45942421	45942421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaatgtcaggcagtttgcGagccatttcctcccaccctt	9	11	7	14	1	1	0	1	0	0	0	3	1	3	0	4	1	3	2	4	1	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:45942421G>A	uc003coz.2	+	2	321	c.141G>A	c.(139-141)gcG>gcA	p.A47A	LZTFL1_uc003coy.1_Intron|LZTFL1_uc011bak.1_Intron|CCR9_uc010hiv.2_Silent_p.A35A|CCR9_uc003cpa.2_Silent_p.A35A|CCR9_uc021wwv.1_Silent_p.A35A	NM_031200	NP_006632	P51686	CCR9_HUMAN	Homo sapiens chemokine (C-C motif) receptor 9 (CCR9), transcript variant A, mRNA.	47					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		GGCAGTTTGCGAGCCATTTCC	0.468													A	45942421	G	A	45942421	2	1	221	1	0	0	0	0	0	0	0	1	2978	1045	37	1		1	CCR9	3	45942421	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	15909820	45942421	152080009	18	15078											
STAB1	23166	broad.mit.edu	37	chr3	52540233	52540233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcggatcctcaccatggcGaaccaggtcctggctgtgaa	8	8	13	12	2	1	1	1	1	0	0	4	3	3	2	4	5	1	1	4	5	2	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:52540233G>A	uc003dej.3	+	16	1871	c.1797G>A	c.(1795-1797)gcG>gcA	p.A599A	STAB1_uc003dei.1_Silent_p.A599A	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	599	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	p.A599A(2)		breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCACCATGGCGAACCAGGTCC	0.622													A	52540233	G	A	52540233	2	1	221	1	0	0	0	0	0	0	0	1	15333	1045	37	1		1	STAB1	3	52540233	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	6597812	52540233	145482197	19	15079											
GCET2	257144	broad.mit.edu	37	chr3	111852081	111852081	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtggctctggccacccGtgcagagacagcagaaagga	10	6	14	11	1	1	2	0	0	1	2	1	4	1	3	2	3	2	3	2	3	1	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:111852081G>A	uc021xcl.1	-	0					GCET2_uc003dys.2_5'UTR|GCET2_uc021xcm.1_5'UTR	NM_001190259	NP_001177188	Q8N6F7	GCET2_HUMAN	Homo sapiens germinal center expressed transcript 2 (GCET2), transcript variant 3, mRNA.							mitochondrion				endometrium(3)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	8						CTGGCCACCCGTGCAGAGACA	0.557													A	111852081	G	A	111852081	1	1	221	1	0	0	0	0	0	0	0	0	6342	1160	40	1		1	GCET2	3	111852081	Translation_Start_Site	SNP	G	TCGA-32-1970-01A-01D-1494-08	59311848	111852081	86170349	20	15080											
STXBP5L	9515	broad.mit.edu	37	chr3	120764376	120764376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcttaaatttaaccGggaacggtaagaacctatga	14	11	7	9	2	1	2	0	1	1	1	2	3	1	3	3	2	3	1	3	2	7	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:120764376G>A	uc003eec.4	+	4	604	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	STXBP5L_uc011bji.2_Missense_Mutation_p.R155Q	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	155					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane		p.R155L(2)		NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAATTTAACCGGGAACGGTAA	0.358													A	120764376	G	A	120764376	3	1	221	1	0	0	0	0	1	0	0	0	15453	1116	39	1	478	1	STXBP5L	3	120764376	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	8912295	120764376	77258054	21	15081											
MECOM	2122	broad.mit.edu	37	chr3	168833869	168833869	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactttccagatcagagccCgaggttgtttccaggtcact	8	12	9	12	1	3	2	3	0	0	2	5	3	5	2	3	2	1	2	3	2	0	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:168833869C>T	uc011bpj.1	-	7	2194	c.1791G>A	c.(1789-1791)tcG>tcA	p.S597S	MECOM_uc010hwk.1_Silent_p.S432S|MECOM_uc003ffj.3_Silent_p.S474S|MECOM_uc003ffi.3_Silent_p.S409S|MECOM_uc011bpi.1_Silent_p.S410S|MECOM_uc003ffn.3_Silent_p.S409S|MECOM_uc003ffk.2_Silent_p.S409S|MECOM_uc003ffl.2_Silent_p.S569S|MECOM_uc011bpk.1_Silent_p.S409S|MECOM_uc010hwn.2_Silent_p.S597S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATCAGAGCCCGAGGTTGTTT	0.423													T	168833869	C	T	168833869	2	4	221	1	0	0	0	0	0	0	0	1	9497	639	23	1		1	MECOM	3	168833869	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	48069493	168833869	29188561	22	15082											
ACAP2	23527	broad.mit.edu	37	chr3	195102729	195102729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttttccagtatcaatcAttgcaatacaaagtttcaca	14	13	5	9	0	3	0	3	0	0	0	4	0	4	0	1	1	2	4	1	1	5	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195102729A>G	uc003fun.4	-	2	375	c.134T>C	c.(133-135)aTg>aCg	p.M45T	ACAP2_uc003fuo.3_Missense_Mutation_p.M45T	NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	45	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						AGTATCAATCATTGCAATACA	0.343													G	195102729	A	G	195102729	3	3	221	1	0	0	0	0	1	0	0	0	119	217	8	3	2286	3	ACAP2	3	195102729	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	26268860	195102729	2919701	23	15083											
TNK2	10188	broad.mit.edu	37	chr3	195597005	195597006	+	Frame_Shift_Ins	INS	-	-	G																															tttcacccctcctagatgctINSgggggggccgggaggtgctc																										TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr3:195597005_195597006insG	uc003fvu.1	-	10	2065_2066	c.1522_1523insC	c.(1522-1524)cagfs	p.Q508fs	TNK2_uc003fvq.1_5'Flank|TNK2_uc003fvr.1_Frame_Shift_Ins_p.Q18fs|TNK2_uc003fvs.1_Frame_Shift_Ins_p.Q540fs|TNK2_uc003fvt.1_Frame_Shift_Ins_p.Q571fs|TNK2_uc010hzw.1_Non-coding_Transcript|TNK2_uc003fvv.1_Frame_Shift_Ins_p.Q338fs	NM_005781	NP_005772	Q07912	ACK1_HUMAN	Homo sapiens tyrosine kinase, non-receptor, 2 (TNK2), transcript variant 1, mRNA.	508				Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	TCCTAGATGCTGGGGGGGCCGG	0.614													G	195597006	-	G	195597005	7	5	221	1	0	1	1	0	0	0	0	0	16418	1580	55	0	1662	0	TNK2	3	195597005	Frame_Shift_Ins	INS	-	TCGA-32-1970-01A-01D-1494-08	494276	195597005	2425425	24	15084											
GPR78	27201	broad.mit.edu	37	chr4	8583361	8583361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggcgctcgcgctgctcGccgacctgcaccccaggtat	6	7	12	16	5	0	1	0	1	0	0	2	2	0	1	4	2	2	5	4	2	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:8583361G>A	uc003glk.3	+	0	1145	c.652G>A	c.(652-654)Gcc>Acc	p.A218T	GPR78_uc021xlj.1_Intron|CPZ_uc003gll.3_Non-coding_Transcript	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	218					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CGCGCTGCTCGCCGACCTGCA	0.687													A	8583361	G	A	8583361	3	1	221	1	0	0	0	0	1	0	0	0	6764	1087	38	1	654	1	GPR78	4	8583361	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		8583361	182570915	25	15085											
FGB	2244	broad.mit.edu	37	chr4	155487823	155487823	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaggcagaagcaagtaaaAggtagatatccttgtgcttt	15	10	11	5	0	0	3	0	0	0	3	1	3	1	3	1	2	2	5	1	2	7	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr4:155487823A>T	uc003ioa.4	+	3	529	c.490_splice	c.e3+1	p.D164_splice	FGB_uc010ipu.1_Splice_Site|FGB_uc010ipv.3_Splice_Site_p.D105_splice	NM_005141	NP_005132	P02675	FIBB_HUMAN	Homo sapiens fibrinogen beta chain (FGB), transcript variant 1, mRNA.	164		Cleavage; by plasmin; to break down fibrin clots.			platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	AGCAAGTAAAAGGTAGATATC	0.403													T	155487823	A	T	155487823	3	4	221	1	0	0	0	0	1	0	0	0	5880	86	3	5	499	5	FGB	4	155487823	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	146904462	155487823	35666453	26	15086											
C5orf42	65250	broad.mit.edu	37	chr5	37167302	37167302	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcaagtgggataagtTgtgtttttttgcactacaag	9	17	11	4	0	1	0	1	0	0	0	1	1	1	1	0	2	2	4	0	2	4	8			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:37167302T>A	uc011cpa.1	-	34	7478	c.7247A>T	c.(7246-7248)cAa>cTa	p.Q2416L	C5orf42_uc011coy.1_Missense_Mutation_p.Q916L|C5orf42_uc003jks.2_Non-coding_Transcript|C5orf42_uc011coz.1_Missense_Mutation_p.Q1491L	NM_023073	NP_075561	E9PH94	E9PH94_HUMAN	Homo sapiens chromosome 5 open reading frame 42 (C5orf42), mRNA.	2416										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGGGATAAGTTGTGTTTTTTT	0.313													A	37167302	T	A	37167302	3	1	221	1	0	0	0	0	1	0	0	0	2323	1812	63	5	2418	5	C5orf42	5	37167302	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08		37167302	143747958	27	15087											
C7	730	broad.mit.edu	37	chr5	40976859	40976859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatccttttttagaaaatccGttaacacaggcagtgcctaa	13	13	6	9	1	0	1	0	0	0	1	2	1	2	1	3	1	2	2	3	1	6	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:40976859G>A	uc003jmh.3	+	15	2196	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	C7_uc011cpn.1_Non-coding_Transcript	NM_000587	NP_000578	P10643	CO7_HUMAN	Homo sapiens complement component 7 (C7), mRNA.	694					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TAGAAAATCCGTTAACACAGG	0.433													A	40976859	G	A	40976859	2	1	221	1	0	0	0	0	0	0	0	1	2399	1132	40	1		1	C7	5	40976859	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	3809557	40976859	139938401	28	15088											
ACTBL2	345651	broad.mit.edu	37	chr5	56778318	56778318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggtgaccactccatgctCgataggatacttcagggtca	9	11	11	10	1	2	1	2	1	0	0	4	3	3	2	2	3	2	2	2	3	2	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:56778318C>T	uc003jrm.3	-	0	319	c.217G>A	c.(217-219)Gag>Aag	p.E73K		NM_001017992	NP_001017992	Q562R1	ACTBL_HUMAN	Homo sapiens actin, beta-like 2 (ACTBL2), mRNA.	73						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		ACTCCATGCTCGATAGGATAC	0.542													T	56778318	C	T	56778318	3	4	221	1	0	0	0	0	1	0	0	0	194	893	31	1	917	1	ACTBL2	5	56778318	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	15801459	56778318	124136942	29	15089											
GPR98	84059	broad.mit.edu	37	chr5	89990447	89990447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtggcagtcgaatggcGtgttgttggtggaacagcta	9	11	15	6	2	1	0	1	0	0	0	2	2	1	1	0	4	2	4	0	4	4	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:89990447G>A	uc003kju.3	+	32	7970	c.7874G>A	c.(7873-7875)cGt>cAt	p.R2625H	GPR98_uc003kjt.3_Missense_Mutation_p.R331H|GPR98_uc003kjv.3_Missense_Mutation_p.R225H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2625					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTCGAATGGCGTGTTGTTGGT	0.473													A	89990447	G	A	89990447	3	1	221	1	0	0	0	0	1	0	0	0	6776	1145	40	1	8004	1	GPR98	5	89990447	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	33212129	89990447	90924813	30	15090											
PCDHAC2	56146	broad.mit.edu	37	chr5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccgagggtgcgcgcgCgccaggaaagcccacgctgg	8	2	15	16	6	0	0	0	0	0	0	0	2	0	1	4	3	2	1	4	3	1	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140176747C>T	uc003lhd.2	+	0	2304	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A733V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A733V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	752					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682													T	140176747	C	T	140176747	3	4	221	1	0	0	0	0	1	0	0	0	11609	768	27	1		1	PCDHAC2	5	140176747	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	50186300	140176747	40738513	31	15091											
PCDHGC5	56104	broad.mit.edu	37	chr5	140730079	140730079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggggatttgttagtgaaCggtaggatagatcgagagaa	13	9	16	3	3	0	3	0	1	0	2	1	7	0	5	0	4	2	2	0	4	5	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:140730079C>T	uc003ljo.2	+	0	252	c.252C>T	c.(250-252)aaC>aaT	p.N84N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc011daq.2_Silent_p.N84N	NM_018922	NP_061745	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 1 (PCDHGB1), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.N84N(2)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTAGTGAACGGTAGGATAG	0.473											OREG0016856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140730079	C	T	140730079	2	4	221	1	0	0	0	0	0	0	0	1	11647	535	19	1		1	PCDHGC5	5	140730079	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	553332	140730079	40185181	32	15092											
FAM71B	153745	broad.mit.edu	37	chr5	156592869	156592869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctccccttggcaaacCggccccatctgacatgctgt	7	9	8	17	1	2	1	0	1	2	0	3	2	2	1	6	2	2	2	6	2	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:156592869C>T	uc003lwn.3	-	0	411	c.311G>A	c.(310-312)cGg>cAg	p.R104Q		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	104						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTGGCAAACCGGCCCCATCT	0.542													T	156592869	C	T	156592869	3	4	221	1	0	0	0	0	1	0	0	0	5658	652	23	1	1514	1	FAM71B	5	156592869	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	15862790	156592869	24322391	33	15093											
RANBP17	64901	broad.mit.edu	37	chr5	170725815	170725815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtggcagaggcgttgCgcagtgatggcaacactgaa	11	7	16	7	2	0	4	0	2	0	2	0	5	0	4	0	3	2	4	0	3	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:170725815C>T	uc003mba.3	+	27	3362	c.3220C>T	c.(3220-3222)Cgc>Tgc	p.R1074C	RANBP17_uc003mbb.3_Missense_Mutation_p.R399C|RANBP17_uc010jjs.3_Non-coding_Transcript	NM_022897	NP_075048	Q9H2T7	RBP17_HUMAN	Homo sapiens RAN binding protein 17 (RANBP17), mRNA.	1074					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGAGGCGTTGCGCAGTGATGG	0.502			T	TRD@	ALL								T	170725815	C	T	170725815	3	4	221	1	0	0	0	0	1	0	0	0	13115	768	27	1	3330	1	RANBP17	5	170725815	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	14132946	170725815	10189445	34	15094											
FBXW11	23291	broad.mit.edu	37	chr5	171299943	171299943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagacaggcaatgccccGcttgtgcccattgagagtac	9	8	12	12	1	0	2	0	1	0	2	0	4	0	2	3	2	3	3	3	2	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr5:171299943G>A	uc003mbm.1	-	8	1581	c.1210C>T	c.(1210-1212)Cgg>Tgg	p.R404W	FBXW11_uc011dey.1_Missense_Mutation_p.R372W|FBXW11_uc003mbl.1_Missense_Mutation_p.R391W|FBXW11_uc003mbn.1_Missense_Mutation_p.R370W	NM_012300	NP_036432	Q9UKB1	FBW1B_HUMAN	Homo sapiens F-box and WD repeat domain containing 11 (FBXW11), transcript variant 3, mRNA.	404					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity	p.R404Q(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAATGCCCCGCTTGTGCCCA	0.463													A	171299943	G	A	171299943	3	1	221	1	0	0	0	0	1	0	0	0	5813	1086	38	1	434	1	FBXW11	5	171299943	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	574128	171299943	9615317	35	15095											
BCLAF1	9774	broad.mit.edu	37	chr6	136597406	136597406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagcaaaacttttaccCtgatctgcgaggactgactt	11	11	9	10	1	1	2	0	2	1	0	1	4	1	3	1	1	4	3	1	1	4	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr6:136597406C>A	uc003qgx.1	-	4	1510	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	BCLAF1_uc003qgy.1_Missense_Mutation_p.Q417H|BCLAF1_uc011edc.1_Intron|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.Q417H|BCLAF1_uc003qgw.1_Intron	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	419					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AACTTTTACCCTGATCTGCGA	0.418													A	136597406	C	A	136597406	3	1	221	1	0	0	0	0	1	0	0	0	1388	680	24	4	1541	4	BCLAF1	6	136597406	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		136597406	34517661	36	15096											
CDK13	8621	broad.mit.edu	37	chr7	40127783	40127783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcgaagaagacagaagCagatgggcatgactgatgat	18	5	13	5	1	0	7	0	3	0	4	0	8	0	7	0	1	2	2	0	1	5	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:40127783C>T	uc003thh.4	+	11	3370	c.3088C>T	c.(3088-3090)Cag>Tag	p.Q1030*	CDK13_uc003thi.4_Nonsense_Mutation_p.Q1030*|CDK13_uc003thj.3_Nonsense_Mutation_p.Q81*	NM_003718	NP_003709	Q14004	CDK13_HUMAN	Homo sapiens cyclin-dependent kinase 13 (CDK13), transcript variant 1, mRNA.	1030					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	p.K1029K(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						AAGACAGAAGCAGATGGGCAT	0.423													T	40127783	C	T	40127783	4	4	221	1	0	0	0	0	0	1	0	0	3159	711	25	2	3134	2	CDK13	7	40127783	Nonsense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		40127783	119010880	37	15097											
ABCA13	154664	broad.mit.edu	37	chr7	48287917	48287917	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatttggactggcaggaaCttgagatgcagctgtcagaa	13	10	12	6	0	1	2	1	1	0	2	1	5	1	4	0	3	3	3	0	3	4	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:48287917C>G	uc003toq.2	+	13	1765	c.1741C>G	c.(1741-1743)Ctt>Gtt	p.L581V	ABCA13_uc010kyr.2_Missense_Mutation_p.L84V	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	581					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTGGCAGGAACTTGAGATGCA	0.428													G	48287917	C	G	48287917	3	3	221	1	0	0	0	0	1	0	0	0	31	565	20	4	1624	4	ABCA13	7	48287917	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	8160134	48287917	110850746	38	15098											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	221	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	6933905	55221822	103916841	39	15099											
PSPH	5723	broad.mit.edu	37	chr7	56088826	56088826	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctcatcgattccttcttctCtgatgaccgtgctgtcaaca	7	14	7	13	2	4	2	2	2	2	0	7	3	5	2	2	0	2	2	2	0	1	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:56088826C>G	uc003trj.3	-	1	482	c.167G>C	c.(166-168)aGa>aCa	p.R56T	PSPH_uc003trh.3_Missense_Mutation_p.R27T|PSPH_uc003tri.3_Missense_Mutation_p.R27T	NM_004577	NP_004568	P78330	SERB_HUMAN	Homo sapiens phosphoserine phosphatase (PSPH), mRNA.	27					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCCTTCTTCTCTGATGACCGT	0.448													G	56088826	C	G	56088826	3	3	221	1	0	0	0	0	1	0	0	0	12802	913	32	4	617	4	PSPH	7	56088826	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	867004	56088826	103049837	40	15100											
ZNF735	730291	broad.mit.edu	37	chr7	63680236	63680236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactggagagaaaccctaCgcatgtgaagaatgtggcca	14	6	11	10	1	0	3	0	1	0	2	0	5	0	4	2	2	2	1	2	2	4	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:63680236C>T	uc011kdn.2	+	3	807	c.807C>T	c.(805-807)taC>taT	p.Y269Y		NM_001159524	NP_001152996	P0CB33	ZN735_HUMAN	Homo sapiens zinc finger protein 735 (ZNF735), mRNA.	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										AGAAACCCTACGCATGTGAAG	0.458													T	63680236	C	T	63680236	2	4	221	1	0	0	0	0	0	0	0	1	18225	547	19	1		1	ZNF735	7	63680236	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	7591410	63680236	95458427	41	15101											
ZNF107	51427	broad.mit.edu	37	chr7	64167281	64167281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcaaggcctttaaacaggCctcacaccttactatacata	13	10	6	12	0	1	0	1	0	0	0	1	0	1	0	3	3	3	1	3	3	7	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:64167281C>A	uc003ttd.3	+	6	1385	c.599C>A	c.(598-600)gCc>gAc	p.A200D	ZNF107_uc003tte.3_Missense_Mutation_p.A200D	NM_016220	NP_057304	Q9UII5	ZN107_HUMAN	Homo sapiens zinc finger protein 107 (ZNF107), transcript variant 1, mRNA.	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TTTAAACAGGCCTCACACCTT	0.373													A	64167281	C	A	64167281	3	1	221	1	0	0	0	0	1	0	0	0	17816	739	26	4	605	4	ZNF107	7	64167281	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	487045	64167281	94971382	42	15102											
MAGI2	9863	broad.mit.edu	37	chr7	77807399	77807399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catcctccgaagatgaacatCcaattccttataatctggac	13	11	5	12	1	1	2	0	1	1	1	5	4	5	3	4	1	1	0	4	1	5	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:77807399C>T	uc003ugx.3	-	13	2586	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	MAGI2_uc003ugy.3_Missense_Mutation_p.D764N|MAGI2_uc010ldx.1_Missense_Mutation_p.D371N	NM_012301	NP_036433	Q86UL8	MAGI2_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 2 (MAGI2), mRNA.	778	PDZ 4.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				AGATGAACATCCAATTCCTTA	0.453													T	77807399	C	T	77807399	3	4	221	1	0	0	0	0	1	0	0	0	9266	855	30	2	2071	2	MAGI2	7	77807399	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	13640118	77807399	81331264	43	15103											
PCLO	27445	broad.mit.edu	37	chr7	82582560	82582560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggatttggaaaatcttGgtgaagacttgttggagtgt	10	14	15	2	0	1	3	0	2	1	1	1	6	1	6	0	4	0	1	0	4	3	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:82582560G>A	uc003uhx.2	-	4	7998	c.7709C>T	c.(7708-7710)cCa>cTa	p.P2570L	PCLO_uc003uhv.2_Missense_Mutation_p.P2570L|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2501					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGAAAATCTTGGTGAAGACTT	0.403													A	82582560	G	A	82582560	3	1	221	1	0	0	0	0	1	0	0	0	11659	1348	47	2	7820	2	PCLO	7	82582560	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	4775161	82582560	76556103	44	15104											
GRM3	2913	broad.mit.edu	37	chr7	86416220	86416220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaacgcaaccacaggcGcgtctgcgacaagcacctgg	13	3	11	14	4	1	0	0	0	1	0	1	2	1	0	2	2	5	2	2	2	4	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416220G>A	uc003uid.3	+	2	2211	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	GRM3_uc010lef.3_Missense_Mutation_p.R369H|GRM3_uc010leg.3_Missense_Mutation_p.R243H|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	371					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCACAGGCGCGTCTGCGAC	0.567													A	86416220	G	A	86416220	3	1	221	1	0	0	0	0	1	0	0	0	6853	1087	38	1	1118	1	GRM3	7	86416220	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	3833660	86416220	72722443	45	15105											
GRM3	2913	broad.mit.edu	37	chr7	86416334	86416334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctttgcacaaaatgcagcGcaccctctgtcccaacacta	11	8	6	16	2	1	0	0	0	1	0	2	0	2	0	2	0	4	4	2	0	4	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86416334G>A	uc003uid.3	+	2	2325	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	GRM3_uc010lef.3_Missense_Mutation_p.R407H|GRM3_uc010leg.3_Missense_Mutation_p.R281H|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	409					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AAAATGCAGCGCACCCTCTGT	0.498													A	86416334	G	A	86416334	3	1	221	1	0	0	0	0	1	0	0	0	6853	1087	38	1	1232	1	GRM3	7	86416334	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	114	86416334	72722329	46	15106											
GRM3	2913	broad.mit.edu	37	chr7	86468918	86468918	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcatctgcctgggtctgatCctggtgcaaattgtgatggt	6	15	12	8	0	3	2	1	2	2	0	4	2	4	2	2	3	2	1	2	3	1	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:86468918C>T	uc003uid.3	+	3	3187	c.2088C>T	c.(2086-2088)atC>atT	p.I696I	GRM3_uc010lef.3_Intron|GRM3_uc010leg.3_Silent_p.I568I|GRM3_uc010leh.3_Silent_p.I288I	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	696					synaptic transmission	integral to plasma membrane		p.I696T(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGGGTCTGATCCTGGTGCAAA	0.527													T	86468918	C	T	86468918	2	4	221	1	0	0	0	0	0	0	0	1	6853	845	30	2		2	GRM3	7	86468918	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	52584	86468918	72669745	47	15107											
STEAP1	26872	broad.mit.edu	37	chr7	89791325	89791325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattggcaatactggctcTgttggctgtgacatctattc	7	14	12	8	0	2	1	0	1	2	0	3	2	2	2	0	4	1	4	0	4	3	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:89791325T>C	uc003ujx.3	+	3	895	c.695T>C	c.(694-696)cTg>cCg	p.L232P	STEAP1_uc010lem.3_Missense_Mutation_p.L232P	NM_012449	NP_036581	Q9UHE8	STEA1_HUMAN	Homo sapiens six transmembrane epithelial antigen of the prostate 1 (STEAP1), mRNA.	232	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATACTGGCTCTGTTGGCTGTG	0.378													C	89791325	T	C	89791325	3	2	221	1	0	0	0	0	1	0	0	0	15373	1580	55	3	705	3	STEAP1	7	89791325	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08	3322407	89791325	69347338	48	15108											
TRPV5	56302	broad.mit.edu	37	chr7	142611855	142611855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccatcagccagcagaaacGcattaggtctccaaaaatca	16	6	7	12	1	3	1	2	0	1	1	4	1	3	1	3	1	4	2	3	1	4	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr7:142611855G>A	uc003wby.1	-	11	1738	c.1474C>T	c.(1474-1476)Cgt>Tgt	p.R492C		NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	492					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R492H(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CAGCAGAAACGCATTAGGTCT	0.463													A	142611855	G	A	142611855	3	1	221	1	0	0	0	0	1	0	0	0	16700	1087	38	1	731	1	TRPV5	7	142611855	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	52820530	142611855	16526808	49	15109											
GATA4	2626	broad.mit.edu	37	chr8	11607623	11607623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcctgtcttgcagtccGcctcccgccgagtgggcctc	2	12	11	16	3	1	0	0	0	1	0	5	1	4	0	6	1	1	2	6	1	0	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:11607623G>A	uc011kxc.1	+	2	1247	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	GATA4_uc003wub.1_Missense_Mutation_p.A57T|GATA4_uc003wuc.2_Missense_Mutation_p.A263T	NM_002052	NP_002043	P43694	GATA4_HUMAN	Homo sapiens GATA binding protein 4 (GATA4), mRNA.	263					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CTTGCAGTCCGCCTCCCGCCG	0.637													A	11607623	G	A	11607623	3	1	221	1	0	0	0	0	1	0	0	0	6310	1087	38	1	797	1	GATA4	8	11607623	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		11607623	134756399	50	15110											
ENPP2	5168	broad.mit.edu	37	chr8	120629759	120629759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttcatgtatgatgcaCggaagccatccacggagaag	11	10	10	10	2	2	2	1	1	1	1	3	4	3	3	2	2	2	2	2	2	3	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:120629759C>T	uc003yos.2	-	5	610	c.524G>A	c.(523-525)cGt>cAt	p.R175H	ENPP2_uc010mdd.2_Missense_Mutation_p.R175H|ENPP2_uc003yot.2_Missense_Mutation_p.R175H	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	175					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			GTATGATGCACGGAAGCCATC	0.373													T	120629759	C	T	120629759	3	4	221	1	0	0	0	0	1	0	0	0	5171	536	19	1	2386	1	ENPP2	8	120629759	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	109022136	120629759	25734263	51	15111											
BAI1	575	broad.mit.edu	37	chr8	143625027	143625027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccggaagctgcagcaCgcagcggagaaggacaagga	14	2	15	10	3	0	2	0	1	0	1	0	6	0	5	1	4	5	4	1	4	4	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr8:143625027C>T	uc003ywm.3	+	28	4698	c.4515C>T	c.(4513-4515)caC>caT	p.H1505H		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	1505	Necessary for interaction with MAGI1.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					AGCTGCAGCACGCAGCGGAGA	0.662													T	143625027	C	T	143625027	2	4	221	1	0	0	0	0	0	0	0	1	1303	535	19	1		1	BAI1	8	143625027	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	22995268	143625027	2738995	52	15112											
OR13C9	286362	broad.mit.edu	37	chr9	107379553	107379553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctaaagaaccttctgttCggtaggtgttttactgcctc	7	16	9	9	1	1	1	0	0	1	1	3	1	1	1	2	2	4	4	2	2	5	7			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:107379553C>T	uc011lvr.2	-	0	933	c.933G>A	c.(931-933)ccG>ccA	p.P311P		NM_001001956	NP_001001956	Q8NGT0	O13C9_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 9 (OR13C9), mRNA.	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L310I(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACCTTCTGTTCGGTAGGTGTT	0.353													T	107379553	C	T	107379553	2	4	221	1	0	0	0	0	0	0	0	1	11015	871	31	1		1	OR13C9	9	107379553	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08		107379553	33833878	53	15113											
CEL	1056	broad.mit.edu	37	chr9	135945963	135945963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgttttcgggaagcccttcGccacccccacgggctaccgg	6	7	11	17	5	0	0	0	0	0	0	2	1	0	1	5	3	2	2	5	3	2	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr9:135945963G>A	uc010naa.1	+	9	1427	c.1411G>A	c.(1411-1413)Gcc>Acc	p.A471T		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	468					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGCCCTTCGCCACCCCCAC	0.582													A	135945963	G	A	135945963	3	1	221	1	0	0	0	0	1	0	0	0	3239	1087	38	1	1449	1	CEL	9	135945963	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	28566410	135945963	5267468	54	15114											
ITIH5	80760	broad.mit.edu	37	chr10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccgtcaatcagtttggcgGcattgttcctggcaaaccag	8	10	10	13	2	2	0	2	0	0	0	3	0	3	0	4	3	1	4	4	3	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7605143G>A	uc021pmv.1	-	13	2838	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_uc021pmu.1_Missense_Mutation_p.A697V	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522													A	7605143	G	A	7605143	3	1	221	1	0	0	0	0	1	0	0	0	7965	1203	42	2	142	2	ITIH5	10	7605143	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		7605143	127929604	55	15115											
ITIH5	80760	broad.mit.edu	37	chr10	7659109	7659109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctgttctctattgacGtcatatctaatgataaagtc	11	16	6	8	1	4	2	1	2	3	0	6	2	4	2	0	0	1	2	0	0	5	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:7659109G>T	uc021pmv.1	-	5	895	c.789C>A	c.(787-789)gaC>gaA	p.D263E	ITIH5_uc021pmu.1_Missense_Mutation_p.D49E|ITIH5_uc001ijr.2_Missense_Mutation_p.D263E	NM_030569	NP_085046	Q86UX2	ITIH5_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 5 (ITIH5), transcript variant 1, mRNA.	263					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CTCTATTGACGTCATATCTAA	0.388													T	7659109	G	T	7659109	3	4	221	1	0	0	0	0	1	0	0	0	7965	1136	40	4	2198	4	ITIH5	10	7659109	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	53966	7659109	127875638	56	15116											
CYP2C19	1562	broad.mit.edu	37	chr10	96447617	96447617	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcagtgaaggaggccCtgattgatcatggagaggag	13	7	16	5	0	1	5	1	4	0	1	1	8	1	7	1	4	1	1	1	4	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr10:96447617C>T	uc001kjv.4	+	1	585	c.259C>T	c.(259-261)Ctg>Ttg	p.L87L	CYP2C19_uc001kjw.4_Silent_p.L87L|CYP2C19_uc009xus.1_5'Flank|CYP2C19_uc010qny.2_5'Flank	NM_000772	NP_000763	P33261	CP2CJ_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 18 (CYP2C18), transcript variant 1, mRNA.	87					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAAGGAGGCCCTGATTGATCA	0.433													T	96447617	C	T	96447617	2	4	221	1	0	0	0	0	0	0	0	1	4199	680	24	2		2	CYP2C19	10	96447617	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	88788508	96447617	39087130	57	15117											
SOX6	55553	broad.mit.edu	37	chr11	16007846	16007846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcaacaatgcaggtgCgtttcggtcggggtttgtat	7	13	13	8	3	1	0	1	0	0	0	3	0	1	0	1	4	4	4	1	4	3	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:16007846C>T	uc001mme.3	-	14	2159	c.2126G>A	c.(2125-2127)cGc>cAc	p.R709H	SOX6_uc001mmd.3_Missense_Mutation_p.R672H|SOX6_uc001mmf.3_Missense_Mutation_p.R669H|SOX6_uc001mmg.3_Missense_Mutation_p.R676H	NM_001145819	NP_001139291	P35712	SOX6_HUMAN	Homo sapiens SRY (sex determining region Y)-box 6 (SOX6), transcript variant 4, mRNA.	696					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity	p.G708V(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						AATGCAGGTGCGTTTCGGTCG	0.473													T	16007846	C	T	16007846	3	4	221	1	0	0	0	0	1	0	0	0	15049	768	27	1	407	1	SOX6	11	16007846	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		16007846	118998670	58	15118											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158842	18158842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcagaccctgagcttcacGgggctgacgtgcatcgtttc	8	9	12	12	3	1	3	1	2	0	1	3	3	1	3	1	2	3	5	1	2	1	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:18158842G>A	uc021qek.1	+	0	93	c.93G>A	c.(91-93)acG>acA	p.T31T	MRGPRX3_uc001mnu.3_Silent_p.T31T	NM_054031	NP_473372	Q96LB0	MRGX3_HUMAN	Homo sapiens MAS-related GPR, member X3 (MRGPRX3), mRNA.	31						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TGAGCTTCACGGGGCTGACGT	0.567													A	18158842	G	A	18158842	2	1	221	1	0	0	0	0	0	0	0	1	9844	1103	39	1		1	MRGPRX3	11	18158842	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	2150996	18158842	116847674	59	15119											
MYBPC3	4607	broad.mit.edu	37	chr11	47360181	47360181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgaccgtgaagatgctgCggtccttggtggtctccacg	5	10	13	13	4	1	2	0	1	1	1	4	3	2	2	4	3	2	1	4	3	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:47360181C>T	uc021qis.1	-	22	2253	c.2198G>A	c.(2197-2199)cGc>cAc	p.R733H	MYBPC3_uc021qir.1_Missense_Mutation_p.R385H|MYBPC3_uc010rhl.2_Non-coding_Transcript	NM_000256	NP_000247	Q14896	MYPC3_HUMAN	Homo sapiens myosin binding protein C, cardiac (MYBPC3), mRNA.	732	Ig-like C2-type 5.				cardiac muscle contraction|cell adhesion|muscle filament sliding|regulation of muscle filament sliding|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	C zone|cytosol|striated muscle myosin thick filament	actin binding|ATPase activator activity|metal ion binding|myosin heavy chain binding|structural constituent of muscle|titin binding			breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(3)|urinary_tract(2)	42				Lung(87;0.176)		GAAGATGCTGCGGTCCTTGGT	0.632													T	47360181	C	T	47360181	3	4	221	1	0	0	0	0	1	0	0	0	10089	768	27	1	1674	1	MYBPC3	11	47360181	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	29201339	47360181	87646335	60	15120											
OR4B1	119765	broad.mit.edu	37	chr11	48238965	48238965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattgtgttggccaacagtGgattattctctgtcttctcc	6	18	8	9	0	3	0	0	0	3	0	5	1	3	1	2	2	1	1	2	2	3	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:48238965G>A	uc010rhs.2	+	0	604	c.604G>A	c.(604-606)Gga>Aga	p.G202R		NM_001005470	NP_001005470	Q8NGF8	OR4B1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily B, member 1 (OR4B1), mRNA.	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						GGCCAACAGTGGATTATTCTC	0.473													A	48238965	G	A	48238965	3	1	221	1	0	0	0	0	1	0	0	0	11120	1349	47	2	606	2	OR4B1	11	48238965	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	878784	48238965	86767551	61	15121											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235097	57235097	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctcccgcctcggcctGcctcctgctgatgctcctgg	3	9	10	19	2	0	1	0	1	0	0	4	1	3	1	6	2	4	3	6	2	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57235097G>C	uc010rjt.2	+	1	47	c.47G>C	c.(46-48)tGc>tCc	p.C16S		NM_178570	NP_848665	Q86UN3	R4RL2_HUMAN	Homo sapiens reticulon 4 receptor-like 2 (RTN4RL2), mRNA.	16					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GCCTCGGCCTGCCTCCTGCTG	0.682													C	57235097	G	C	57235097	3	2	221	1	0	0	0	0	1	0	0	0	13823	1319	46	4	53	4	RTN4RL2	11	57235097	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	8996132	57235097	77771419	62	15122											
OR1S1	219959	broad.mit.edu	37	chr11	57982381	57982381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcactgtgattgggaaCgggctcatcattgtggctat	7	13	13	8	1	3	1	3	1	0	0	3	2	3	2	0	4	1	2	0	4	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:57982381C>T	uc010rkc.2	+	0	165	c.165C>T	c.(163-165)aaC>aaT	p.N55N		NM_001004458	NP_001004458	Q8NH92	OR1S1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily S, member 1 (OR1S1), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TGATTGGGAACGGGCTCATCA	0.443													T	57982381	C	T	57982381	2	4	221	1	0	0	0	0	0	0	0	1	11048	535	19	1		1	OR1S1	11	57982381	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	747284	57982381	77024135	63	15123											
MS4A3	932	broad.mit.edu	37	chr11	59837091	59837091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgctggaattatgCgtaaccatctctaccatagc	10	12	6	13	1	2	0	1	0	1	0	3	1	2	1	3	1	5	2	3	1	5	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:59837091C>T	uc001nom.3	+	5	686	c.558C>T	c.(556-558)tgC>tgT	p.C186C	MS4A3_uc001non.3_Silent_p.C140C|MS4A3_uc001noo.3_Silent_p.C63C	NM_006138	NP_006129	Q96HJ5	MS4A3_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific) (MS4A3), transcript variant 1, mRNA.	186						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity	p.C186C(2)|p.L185S(1)		endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGGAATTATGCGTAACCATCT	0.413													T	59837091	C	T	59837091	2	4	221	1	0	0	0	0	0	0	0	1	9937	776	27	1		1	MS4A3	11	59837091	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	1854710	59837091	75169425	64	15124											
POLD4	57804	broad.mit.edu	37	chr11	67120265	67120265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacaccagcgctgcagccGtgtgatccctgccagggtgg	6	6	14	15	3	0	1	0	1	0	0	1	2	1	1	5	2	4	2	5	2	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:67120265G>A	uc001okm.3	-	2	378	c.196C>T	c.(196-198)Cgg>Tgg	p.R66W	LOC100130987_uc010rpo.1_Intron|POLD4_uc001okn.3_Non-coding_Transcript	NM_021173	NP_066996	Q9HCU8	DPOD4_HUMAN	Homo sapiens polymerase (DNA-directed), delta 4 (POLD4), mRNA.	66					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|lung(1)	3			BRCA - Breast invasive adenocarcinoma(15;3.08e-06)			CGCTGCAGCCGTGTGATCCCT	0.637													A	67120265	G	A	67120265	3	1	221	1	0	0	0	0	1	0	0	0	12270	1144	40	1	135	1	POLD4	11	67120265	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	7283174	67120265	67886251	65	15125											
MTNR1B	4544	broad.mit.edu	37	chr11	92714860	92714860	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctaccggcgctggcacacCcctctgcacatctgcctcat	7	9	7	18	2	4	0	1	0	3	0	4	0	4	0	4	2	3	3	4	2	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:92714860C>A	uc001pdk.1	+	1	574	c.471C>A	c.(469-471)acC>acA	p.T157T		NM_005959	NP_005950	P49286	MTR1B_HUMAN	Homo sapiens melatonin receptor 1B (MTNR1B), mRNA.	157					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	GCTGGCACACCCCTCTGCACA	0.572													A	92714860	C	A	92714860	2	1	221	1	0	0	0	0	0	0	0	1	10028	610	22	4		4	MTNR1B	11	92714860	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	25594595	92714860	42291656	66	15126											
CWF19L2	143884	broad.mit.edu	37	chr11	107200691	107200691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcttcaatgacatgggCaaaccctccgtgaaggccaa	12	8	9	12	1	2	3	1	3	1	0	3	3	3	3	3	2	1	1	3	2	4	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr11:107200691C>T	uc010rvp.2	-	16	2524	c.2494G>A	c.(2494-2496)Gcc>Acc	p.A832T	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	832							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ATGACATGGGCAAACCCTCCG	0.383													T	107200691	C	T	107200691	3	4	221	1	0	0	0	0	1	0	0	0	4105	710	25	2	198	2	CWF19L2	11	107200691	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	14485831	107200691	27805825	67	15127											
PRPF40B	25766	broad.mit.edu	37	chr12	50030600	50030600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccggcttcgggagcgaCgccaacaacgcaagaatcgg	10	3	15	13	6	0	1	0	0	0	1	2	3	0	2	2	4	3	2	2	4	4	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:50030600C>T	uc001rur.1	+	14	1525	c.1462C>T	c.(1462-1464)Cgc>Tgc	p.R488C	PRPF40B_uc001rup.1_Missense_Mutation_p.R510C|PRPF40B_uc001ruq.1_Missense_Mutation_p.R482C|PRPF40B_uc001rus.1_Missense_Mutation_p.R431C	NM_001031698	NP_001026868	Q6NWY9	PR40B_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae) (PRPF40B), transcript variant 1, mRNA.	488					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						TCGGGAGCGACGCCAACAACG	0.562											OREG0021797	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50030600	C	T	50030600	3	4	221	1	0	0	0	0	1	0	0	0	12658	536	19	1	1520	1	PRPF40B	12	50030600	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		50030600	83821295	68	15128											
CELA1	1990	broad.mit.edu	37	chr12	51723540	51723540	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggagacattacagccccgGctggacacaaagctggtcac	11	6	11	13	1	1	1	1	0	0	1	1	3	1	2	2	4	3	2	2	4	2	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:51723540G>A	uc001ryi.1	-	6	728	c.687C>T	c.(685-687)agC>agT	p.S229S		NM_001971	NP_001962	Q9UNI1	CELA1_HUMAN	Homo sapiens chymotrypsin-like elastase family, member 1 (CELA1), mRNA.	229	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TACAGCCCCGGCTGGACACAA	0.512													A	51723540	G	A	51723540	2	1	221	1	0	0	0	0	0	0	0	1	3240	1194	42	2		2	CELA1	12	51723540	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08	1692940	51723540	82128355	69	15129											
STAT2	6773	broad.mit.edu	37	chr12	56748251	56748251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtggtacctctcaccAtgtctccagctgttccaacc	6	12	9	14	0	2	0	1	0	2	0	5	0	3	0	5	3	3	3	5	3	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:56748251A>G	uc001slc.3	-	8	985	c.782_splice	c.e8+1	p.W261_splice	STAT2_uc001sld.3_Splice_Site_p.W257_splice|STAT2_uc010sqn.2_Splice_Site_p.W257_splice	NM_005419	NP_005410	P52630	STAT2_HUMAN	Homo sapiens signal transducer and activator of transcription 2, 113kDa (STAT2), transcript variant 1, mRNA.	261					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						ACCTCTCACCATGTCTCCAGC	0.527													G	56748251	A	G	56748251	3	3	221	1	0	0	0	0	1	0	0	0	15361	231	8	3	1842	3	STAT2	12	56748251	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08	5024711	56748251	77103644	70	15130											
UTP20	27340	broad.mit.edu	37	chr12	101750729	101750729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgaaagtgtgtgccctaCtcaagaacagagcccaagaa	14	7	10	10	0	1	4	1	1	0	3	1	4	1	4	2	0	5	1	2	0	6	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:101750729C>A	uc001tia.1	+	42	5716	c.5560C>A	c.(5560-5562)Ctc>Atc	p.L1854I		NM_014503	NP_055318	O75691	UTP20_HUMAN	Homo sapiens UTP20, small subunit (SSU) processome component, homolog (yeast) (UTP20), mRNA.	1854					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GTGTGCCCTACTCAAGAACAG	0.363													A	101750729	C	A	101750729	3	1	221	1	0	0	0	0	1	0	0	0	17201	565	20	4	5730	4	UTP20	12	101750729	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	45002478	101750729	32101166	71	15131											
TMEM132B	114795	broad.mit.edu	37	chr12	125834519	125834519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctggagctgctgcccGagtggttcagctcaggcctg	5	9	15	12	1	2	1	2	1	0	0	2	3	2	2	2	3	5	5	2	3	0	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr12:125834519G>A	uc001uhe.1	+	1	582	c.574G>A	c.(574-576)Gag>Aag	p.E192K	TMEM132B_uc021rgl.1_Missense_Mutation_p.E82K	NM_052907	NP_443139	Q14DG7	T132B_HUMAN	Homo sapiens transmembrane protein 132B (TMEM132B), mRNA.	192						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GCTGCTGCCCGAGTGGTTCAG	0.632													A	125834519	G	A	125834519	3	1	221	1	0	0	0	0	1	0	0	0	16146	1059	37	1	580	1	TMEM132B	12	125834519	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	24083790	125834519	8017376	72	15132											
RB1	5925	broad.mit.edu	37	chr13	49039351	49039351	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctctagccccctacctTgtcaccaatacctcacattc	8	13	3	17	0	3	0	2	0	1	0	4	0	3	0	5	0	4	1	5	0	4	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:49039351T>A	uc001vcb.3	+	22	2502	c.2336T>A	c.(2335-2337)tTg>tAg	p.L779*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	779	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCCCTACCTTGTCACCAATA	0.398		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	49039351	T	A	49039351	4	1	221	1	0	0	0	0	0	1	0	0	13186	1821	63	5	2426	5	RB1	13	49039351	Nonsense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08		49039351	66130527	73	15133											
FGF14	2259	broad.mit.edu	37	chr13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtgcttttacttggcGtcaccccaggcttcgggacc	5	12	10	14	2	1	0	1	0	0	0	2	1	1	1	3	3	2	2	3	3	1	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr13:102375254G>A	uc001vpf.2	-	4	782	c.686C>T	c.(685-687)aCg>aTg	p.T229M	FGF14_uc001vpe.2_Missense_Mutation_p.T224M	NM_175929	NP_787125	Q92915	FGF14_HUMAN	Homo sapiens fibroblast growth factor 14 (FGF14), transcript variant 2, mRNA.	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T229M(2)|p.T224M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473													A	102375254	G	A	102375254	3	1	221	1	0	0	0	0	1	0	0	0	5892	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	53335903	102375254	12794624	74	15134											
RNF31	55072	broad.mit.edu	37	chr14	24627141	24627141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taactgcagggtgaaaaagtCcctgcacggccaccaccctc	11	6	9	15	1	0	1	0	1	0	0	2	1	1	1	4	2	3	2	4	2	3	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:24627141C>A	uc001wmn.1	+	16	3011	c.2762C>A	c.(2761-2763)tCc>tAc	p.S921Y	RNF31_uc001wml.1_Missense_Mutation_p.S770Y|RNF31_uc010alg.1_Missense_Mutation_p.S680Y|RNF31_uc001wmo.1_Missense_Mutation_p.S388Y|RNF31_uc001wmp.3_Non-coding_Transcript|RNF31_uc010alh.1_Missense_Mutation_p.S105Y|IRF9_uc001wmq.3_5'Flank	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	921					CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GTGAAAAAGTCCCTGCACGGC	0.587													A	24627141	C	A	24627141	3	1	221	1	0	0	0	0	1	0	0	0	13578	855	30	4	2828	4	RNF31	14	24627141	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08		24627141	82722399	75	15135											
FLRT2	23768	broad.mit.edu	37	chr14	86088466	86088466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacatggccttccagaatcTcacgagcttggagcgtctta	9	10	10	12	3	2	1	1	0	2	1	4	4	3	2	2	2	2	1	2	2	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr14:86088466T>C	uc021rxf.1	+	0	608	c.608T>C	c.(607-609)cTc>cCc	p.L203P	FLRT2_uc001xvr.3_Missense_Mutation_p.L203P|FLRT2_uc010atd.3_Missense_Mutation_p.L203P	NM_013231	NP_037363	O43155	FLRT2_HUMAN	Homo sapiens fibronectin leucine rich transmembrane protein 2 (FLRT2), mRNA.	203					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCAGAATCTCACGAGCTTG	0.522													C	86088466	T	C	86088466	3	2	221	1	0	0	0	0	1	0	0	0	5988	1551	54	3	610	3	FLRT2	14	86088466	Missense_Mutation	SNP	T	TCGA-32-1970-01A-01D-1494-08	61461325	86088466	21261074	76	15136											
GATM	2628	broad.mit.edu	37	chr15	45668979	45668979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagctgcctgggtgctctgGaaagttcgctgcacccatcc	6	10	12	13	1	1	0	0	0	1	0	3	1	2	1	3	2	4	6	3	2	2	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:45668979G>T	uc001zvc.3	-	1	437	c.108C>A	c.(106-108)ttC>ttA	p.F36L	GATM_uc001zvb.3_5'UTR|GATM_uc010uev.1_Missense_Mutation_p.F89L|LOC145663_uc021sko.1_5'Flank	NM_001482	NP_001473	P50440	GATM_HUMAN	Homo sapiens glycine amidinotransferase (L-arginine:glycine amidinotransferase) (GATM), nuclear gene encoding mitochondrial protein, mRNA.	36					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GGGTGCTCTGGAAAGTTCGCT	0.512													T	45668979	G	T	45668979	3	4	221	1	0	0	0	0	1	0	0	0	6317	1165	41	4	1195	4	GATM	15	45668979	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		45668979	56862413	77	15137											
MEGF11	84465	broad.mit.edu	37	chr15	66191203	66191203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgggtgggtccttaattGtggcgtaagggttttcactg	6	14	16	5	1	1	0	1	0	0	0	2	1	2	1	1	5	0	2	1	5	2	5			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:66191203G>T	uc002apm.2	-	21	2978	c.2837C>A	c.(2836-2838)aCa>aAa	p.T946K	MEGF11_uc002apl.2_Missense_Mutation_p.T871K|MEGF11_uc002apn.1_Missense_Mutation_p.T946K	NM_032445	NP_115821	A6BM72	MEG11_HUMAN	Homo sapiens multiple EGF-like-domains 11 (MEGF11), mRNA.	946						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						GTCCTTAATTGTGGCGTAAGG	0.468													T	66191203	G	T	66191203	3	4	221	1	0	0	0	0	1	0	0	0	9536	1377	48	4	305	4	MEGF11	15	66191203	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	20522224	66191203	36340189	78	15138											
PGPEP1L	145814	broad.mit.edu	37	chr15	99512679	99512679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatctcgggaaaagatcaCgtcgacaccctccacagcta	12	7	8	14	3	2	1	1	0	1	1	5	3	3	2	2	1	2	2	2	1	3	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr15:99512679C>T	uc002bum.3	-	3	646	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	PGPEP1L_uc010bop.3_Missense_Mutation_p.V62M|PGPEP1L_uc002bun.3_Missense_Mutation_p.V62M	NM_001102612	NP_001161374	A6NFU8	PGPIL_HUMAN	Homo sapiens pyroglutamyl-peptidase I-like (PGPEP1L), transcript variant 1, mRNA.	116					proteolysis		cysteine-type peptidase activity	p.D115N(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						GAAAAGATCACGTCGACACCC	0.627													T	99512679	C	T	99512679	3	4	221	1	0	0	0	0	1	0	0	0	11881	536	19	1	252	1	PGPEP1L	15	99512679	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	33321476	99512679	3018713	79	15139											
TMEM219	124446	broad.mit.edu	37	chr16	29979390	29979390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcacagccagggtgaccAcagaaaggactgcaggaacc	14	5	11	11	0	1	2	1	1	0	1	1	4	1	4	3	3	3	1	3	3	3	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:29979390A>G	uc002duw.2	+	3	567	c.400A>G	c.(400-402)Aca>Gca	p.T134A	BOLA2_uc010bzb.1_Intron|TMEM219_uc002duy.2_Missense_Mutation_p.T134A|TMEM219_uc010bzk.1_Missense_Mutation_p.T134A|TMEM219_uc010bzl.1_Non-coding_Transcript	NM_194280	NP_919256	Q86XT9	TM219_HUMAN	Homo sapiens transmembrane protein 219 (TMEM219), transcript variant 2, mRNA.	134						integral to membrane				large_intestine(1)|lung(1)|prostate(2)	4						CAGGGTGACCACAGAAAGGAC	0.527													G	29979390	A	G	29979390	3	3	221	1	0	0	0	0	1	0	0	0	16242	159	6	3	410	3	TMEM219	16	29979390	Missense_Mutation	SNP	A	TCGA-32-1970-01A-01D-1494-08		29979390	60375363	80	15140											
SNX20	124460	broad.mit.edu	37	chr16	50707501	50707501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctcccgggcctgcaggCgctgcagggccctctctccg	2	6	14	19	3	1	0	0	0	1	0	4	0	3	0	5	4	2	3	5	4	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:50707501C>T	uc002egk.2	-	3	940	c.767G>A	c.(766-768)cGc>cAc	p.R256H	SNX20_uc010vgp.1_Intron|SNX20_uc002egi.3_Intron|SNX20_uc021thz.1_Intron	NM_182854	NP_878274	Q7Z614	SNX20_HUMAN	Homo sapiens sorting nexin 20 (SNX20), transcript variant 1, mRNA.	256					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	p.R256H(2)		kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						GGCCTGCAGGCGCTGCAGGGC	0.741													T	50707501	C	T	50707501	3	4	221	1	0	0	0	0	1	0	0	0	14986	768	27	1	330	1	SNX20	16	50707501	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	20728111	50707501	39647252	81	15141											
CPNE2	221184	broad.mit.edu	37	chr16	57153520	57153520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccattcacagtgccCttggtgtccctgtgtgatgg	6	12	13	10	0	1	1	1	1	0	0	2	2	2	2	3	3	2	0	3	3	1	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:57153520C>T	uc010cct.2	+	7	1064	c.717C>T	c.(715-717)ccC>ccT	p.P239P	CPNE2_uc002eks.2_Silent_p.P213P|CPNE2_uc010ccu.2_Silent_p.P213P	NM_152727	NP_689940	Q96FN4	CPNE2_HUMAN	Homo sapiens copine II (CPNE2), mRNA.	213	C2 2.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				TCACAGTGCCCTTGGTGTCCC	0.617													T	57153520	C	T	57153520	2	4	221	1	0	0	0	0	0	0	0	1	3843	668	24	2		2	CPNE2	16	57153520	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	6446019	57153520	33201233	82	15142											
PKD1L2	114780	broad.mit.edu	37	chr16	81181065	81181065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagtcccagcccaaggCgggggatggcaccttgagag	9	5	15	12	1	0	2	0	2	0	1	1	4	1	3	3	4	1	1	3	4	1	1	rs113696594		TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr16:81181065C>T	uc002fgh.1	-	29	5026	c.5026G>A	c.(5026-5028)Gcc>Acc	p.A1676T	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1676					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGCCCAAGGCGGGGGATGGC	0.547													T	81181065	C	T	81181065	3	4	221	1	0	0	0	0	1	0	0	0	12042	768	27	1	2408	1	PKD1L2	16	81181065	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	24027545	81181065	9173688	83	15143											
GPS2	84461	broad.mit.edu	37	chr17	7220634	7220634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttctcgccaggctcctcGaaccctaccccaggttctcc	6	9	7	19	2	2	0	0	0	2	0	6	1	3	0	6	2	2	3	6	2	2	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7220634G>A	uc002gga.1	-	27	4381	c.4374C>T	c.(4372-4374)ttC>ttT	p.F1458F	GPS2_uc002gfw.1_5'Flank|GPS2_uc002gfx.1_5'Flank|GPS2_uc002gfy.1_Non-coding_Transcript|GPS2_uc002gfz.1_5'UTR|GPS2_uc002ggb.1_Silent_p.F1456F	NM_032442	NP_115818	Q13227	GPS2_HUMAN	Homo sapiens neuralized homolog 4 (Drosophila) (NEURL4), transcript variant 1, mRNA.	138					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				CAGGCTCCTCGAACCCTACCC	0.607													A	7220634	G	A	7220634	2	1	221	1	0	0	0	0	0	0	0	1	6788	1049	37	1		1	GPS2	17	7220634	Silent	SNP	G	TCGA-32-1970-01A-01D-1494-08		7220634	73974576	84	15144											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	2	4	4	0	4	4			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:7577138C>G	uc002gim.2	-	7	994	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R267P|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R135P|TP53_uc010cnf.1_Missense_Mutation_p.R135P|TP53_uc002gii.1_Missense_Mutation_p.R135P|TP53_uc010cni.1_Missense_Mutation_p.R267P|TP53_uc010cnh.1_Missense_Mutation_p.R267P|TP53_uc002gij.2_Missense_Mutation_p.R267P|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.G266E(49)|p.G266R(45)|p.G266V(36)|p.R267P(32)|p.R267W(23)|p.R267Q(20)|p.G266*(13)|p.R267L(10)|p.0?(8)|p.G266fs*79(5)|p.R267R(5)|p.G262_F270delGNLLGRNSF(4)|p.G262_S269delGNLLGRNS(4)|p.G266_E271delGRNSFE(4)|p.N268fs*77(3)|p.?(3)|p.G266_N268delGRN(2)|p.G266A(2)|p.G266G(2)|p.L265_R267delLGR(2)|p.L265_K305del41(2)|p.G266fs*4(2)|p.G266T(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.G262fs*2(1)|p.R267G(1)|p.R267fs*78(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			G	7577138	C	G	7577138	3	3	221	1	0	0	0	0	1	0	0	0	16482	652	23	4	486	4	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	356504	7577138	73618072	85	15145											
SLC47A2	146802	broad.mit.edu	37	chr17	19618087	19618087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaactcctacagaaactcCgcagacattgacaaactggc	15	6	6	14	1	0	3	0	1	0	2	2	3	2	3	3	1	4	1	3	1	4	2	rs148775490	byFrequency	TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:19618087C>T	uc002gwe.4	-	2	416	c.241G>A	c.(241-243)Gga>Aga	p.G81R	SLC47A2_uc002gwg.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwf.4_Missense_Mutation_p.G81R|SLC47A2_uc002gwh.4_Non-coding_Transcript|SLC47A2_uc002gwi.3_Non-coding_Transcript|SLC47A2_uc010cqs.1_Non-coding_Transcript|SLC47A2_uc010cqt.1_Non-coding_Transcript	NM_152908	NP_690872	Q86VL8	S47A2_HUMAN	Homo sapiens solute carrier family 47, member 2 (SLC47A2), transcript variant 1, mRNA.	81						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					ACAGAAACTCCGCAGACATTG	0.587													T	19618087	C	T	19618087	3	4	221	1	0	0	0	0	1	0	0	0	14742	661	23	1	1627	1	SLC47A2	17	19618087	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	12040949	19618087	61577123	86	15146											
DHRS13	147015	broad.mit.edu	37	chr17	27228288	27228288	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgaagcagcaggttaaaCgcctcacgggtccggccaca	11	4	11	15	4	1	0	1	0	0	0	2	1	2	0	4	3	3	3	4	3	3	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:27228288C>T	uc002hde.4	-	3	529	c.402G>A	c.(400-402)gcG>gcA	p.A134A	DHRS13_uc002hdd.4_Silent_p.A84A|DHRS13_uc010wba.2_Silent_p.A53A	NM_144683	NP_653284	Q6UX07	DHR13_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 13 (DHRS13), mRNA.	134						extracellular region	binding|oxidoreductase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	9	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.59e-06)|all cancers(11;9.27e-06)|BRCA - Breast invasive adenocarcinoma(11;5.78e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCAGGTTAAACGCCTCACGGG	0.592													T	27228288	C	T	27228288	2	4	221	1	0	0	0	0	0	0	0	1	4528	523	19	1		1	DHRS13	17	27228288	Silent	SNP	C	TCGA-32-1970-01A-01D-1494-08	7610201	27228288	53966922	87	15147											
AXIN2	8313	broad.mit.edu	37	chr17	63553948	63553948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccactgtcaacagtttccGtggacctcacactcgccgtg	8	10	8	15	3	2	0	2	0	0	0	5	1	4	1	4	1	1	1	4	1	1	1			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr17:63553948G>A	uc002jfi.3	-	1	1080	c.791C>T	c.(790-792)aCg>aTg	p.T264M	AXIN2_uc010den.1_Missense_Mutation_p.T264M|AXIN2_uc002jfh.3_Missense_Mutation_p.T264M|AXIN2_uc002jfj.1_Missense_Mutation_p.T264M	NM_004655	NP_004646	Q9Y2T1	AXIN2_HUMAN	Homo sapiens axin 2 (AXIN2), mRNA.	264					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AACAGTTTCCGTGGACCTCAC	0.537									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				A	63553948	G	A	63553948	3	1	221	1	0	0	0	0	1	0	0	0	1242	1145	40	1	1780	1	AXIN2	17	63553948	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	36325660	63553948	17641262	88	15148											
EMR3	84658	broad.mit.edu	37	chr19	14785604	14785604	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggtacgggtatcccaCgccagccagccctggaagct	7	8	12	14	2	1	0	0	0	1	0	2	1	2	1	4	3	4	3	4	3	3	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:14785604C>T	uc002mzi.4	-	0					EMR3_uc010dzp.3_5'UTR|EMR3_uc010xnv.2_5'UTR	NM_032571	NP_115960	Q9BY15	EMR3_HUMAN	Homo sapiens egf-like module containing, mucin-like, hormone receptor-like 3 (EMR3), mRNA.						neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						GGGTATCCCACGCCAGCCAGC	0.507													T	14785604	C	T	14785604	1	4	221	1	0	0	0	0	0	0	0	0	5147	551	19	1		1	EMR3	19	14785604	Translation_Start_Site	SNP	C	TCGA-32-1970-01A-01D-1494-08		14785604	44343379	89	15149											
F2RL3	9002	broad.mit.edu	37	chr19	17000950	17000950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcgcgctccgatcgcGtgctctgccatgacgcgctg	3	8	15	15	7	1	1	0	1	1	0	3	2	2	1	2	2	2	4	2	2	0	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:17000950G>A	uc002nfa.3	+	1	851	c.676G>A	c.(676-678)Gtg>Atg	p.V226M		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	226					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CTCCGATCGCGTGCTCTGCCA	0.701													A	17000950	G	A	17000950	3	1	221	1	0	0	0	0	1	0	0	0	5388	1145	40	1	682	1	F2RL3	19	17000950	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	2215346	17000950	42128033	90	15150											
FFAR3	2865	broad.mit.edu	37	chr19	35849928	35849928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgggcaagctgcagcgcCgcccggtggccgtggacgtg	4	6	18	13	6	0	0	0	0	0	0	1	1	0	1	3	4	3	3	3	4	1	0			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:35849928C>T	uc002nzd.3	+	1	211	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C	FFAR3_uc021usm.1_Missense_Mutation_p.R46C	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	46						integral to plasma membrane	G-protein coupled receptor activity|lipid binding	p.R46R(1)|p.R45H(1)		endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GCTGCAGCGCCGCCCGGTGGC	0.637													T	35849928	C	T	35849928	3	4	221	1	0	0	0	0	1	0	0	0	5878	652	23	1	138	1	FFAR3	19	35849928	Missense_Mutation	SNP	C	TCGA-32-1970-01A-01D-1494-08	18848978	35849928	23279055	91	15151											
ZNF229	7772	broad.mit.edu	37	chr19	44932920	44932920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtatagggcttttttcccGtgtggactcgctgatgtttg	5	16	12	8	3	0	1	0	1	0	0	2	2	1	2	1	2	0	4	1	2	2	6			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr19:44932920G>A	uc002oze.1	-	5	2470	c.2036C>T	c.(2035-2037)aCg>aTg	p.T679M	ZNF229_uc010ejk.1_Missense_Mutation_p.T333M|ZNF229_uc010ejl.1_Missense_Mutation_p.T673M	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTTTTTTCCCGTGTGGACTCG	0.512													A	44932920	G	A	44932920	3	1	221	1	0	0	0	0	1	0	0	0	17883	1145	40	1	445	1	ZNF229	19	44932920	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	9082992	44932920	14196063	92	15152											
ZNFX1	57169	broad.mit.edu	37	chr20	47887010	47887010	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagacccatagagcaatcGtttggaattctgccagcgaa	14	8	9	10	2	1	2	0	0	1	2	2	4	1	3	2	1	3	2	2	1	5	3			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:47887010G>A	uc002xui.3	-	2	1586	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*		NM_021035	NP_066363	Q9P2E3	ZNFX1_HUMAN	Homo sapiens zinc finger, NFX1-type containing 1 (ZNFX1), mRNA.	447							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TAGAGCAATCGTTTGGAATTC	0.468													A	47887010	G	A	47887010	4	1	221	1	0	0	0	0	0	1	0	0	18304	1153	40	1	4465	1	ZNFX1	20	47887010	Nonsense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		47887010	15138510	93	15153											
PRIC285	85441	broad.mit.edu	37	chr20	62200284	62200284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtacagtgctcccggaggcGcgaagagcatgttcagcgct	8	7	14	12	5	1	1	1	0	0	1	2	3	2	2	1	2	4	5	1	2	2	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chr20:62200284G>A	uc002yfm.2	-	5	2049	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	PRIC285_uc002yfl.1_5'Flank	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	386					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			TCCCGGAGGCGCGAAGAGCAT	0.677													A	62200284	G	A	62200284	3	1	221	1	0	0	0	0	1	0	0	0	12571	1087	38	1	6875	1	PRIC285	20	62200284	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08	14313274	62200284	825236	94	15154											
EGFL6	25975	broad.mit.edu	37	chrX	13624543	13624543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcatctgtccctacaatcGaagatgtgtgaacacatttg	12	12	8	9	1	2	2	1	1	1	1	4	3	3	2	1	0	2	0	1	0	4	2			TCGA-32-1970-01A-01D-1494-08	TCGA-32-1970-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65723119-bdfe-46f0-b629-c171023abd71	5b9d2db6-f2b7-47b8-8105-ba44ff3274b7	g.chrX:13624543G>A	uc004cvj.3	+	5	853	c.566G>A	c.(565-567)cGa>cAa	p.R189Q	EGFL6_uc004cvi.3_Missense_Mutation_p.R189Q|EGFL6_uc011mik.1_Missense_Mutation_p.R90Q	NM_001167890	NP_001161362	Q8IUX8	EGFL6_HUMAN	Homo sapiens EGF-like-domain, multiple 6 (EGFL6), transcript variant 2, mRNA.	189	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell cycle|cell differentiation|multicellular organismal development	basement membrane|extracellular space|membrane	calcium ion binding|integrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(7)|prostate(1)|skin(3)	23						CCCTACAATCGAAGATGTGTG	0.398													A	13624543	G	A	13624543	3	1	221	1	0	0	0	0	1	0	0	0	5002	1058	37	1	588	1	EGFL6	23	13624543	Missense_Mutation	SNP	G	TCGA-32-1970-01A-01D-1494-08		13624543	141646017	95	15155											
PLEKHN1	84069	broad.mit.edu	37	chr1	909247	909247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagtgcacgtggacccaCgccctcgagcccactcccct	7	5	10	19	3	0	1	0	0	0	1	2	3	1	2	5	1	2	2	5	1	0	0	rs72631892	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:909247C>T	uc001ace.3	+	12	1660	c.1625C>T	c.(1624-1626)aCg>aTg	p.T542M	PLEKHN1_uc001acd.3_Missense_Mutation_p.T490M|PLEKHN1_uc001acf.3_Missense_Mutation_p.T455M	NM_032129	NP_115505	Q494U1	PKHN1_HUMAN	Homo sapiens pleckstrin homology domain containing, family N member 1 (PLEKHN1), transcript variant 1, mRNA.	542										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		CGTGGACCCACGCCCTCGAGC	0.682													T	909247	C	T	909247	3	4	222	1	0	0	0	0	1	0	0	0	12160	536	19	1	1559	1	PLEKHN1	1	909247	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		909247	248341374	1	15156											
TAS1R2	80834	broad.mit.edu	37	chr1	19168299	19168299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtggatgcccacaggcttCttcttttgccctgactggca	6	12	10	13	1	2	1	0	1	2	0	2	2	2	2	2	3	2	2	2	3	0	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:19168299C>T	uc001bba.1	-	4	1516	c.1515G>A	c.(1513-1515)aaG>aaA	p.K505K		NM_152232	NP_689418	Q8TE23	TS1R2_HUMAN	Homo sapiens taste receptor, type 1, member 2 (TAS1R2), mRNA.	505					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCACAGGCTTCTTCTTTTGCC	0.562													T	19168299	C	T	19168299	2	4	222	1	0	0	0	0	0	0	0	1	15660	912	32	2		2	TAS1R2	1	19168299	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	18259052	19168299	230082322	2	15157											
RIMS3	9783	broad.mit.edu	37	chr1	41107474	41107474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctccgccgcttcttggCggtggtggtcccagccccgc	1	9	14	17	4	1	0	0	0	1	0	3	0	3	0	5	4	2	3	5	4	0	2	rs149583022		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:41107474C>T	uc001cfu.1	-	2	589	c.124G>A	c.(124-126)Gcc>Acc	p.A42T	RIMS3_uc001cfv.1_Missense_Mutation_p.A42T	NM_014747	NP_055562	Q9UJD0	RIMS3_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 3 (RIMS3), mRNA.	42					neurotransmitter transport	cell junction|synapse		p.A42T(2)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.47e-17)			CGCTTCTTGGCGGTGGTGGTC	0.657													T	41107474	C	T	41107474	3	4	222	1	0	0	0	0	1	0	0	0	13460	768	27	1	826	1	RIMS3	1	41107474	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	21939175	41107474	208143147	3	15158											
PTPRF	5792	broad.mit.edu	37	chr1	44069550	44069550	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagttcgagaaggagatcagGacccccgaggacctgcccag	11	4	14	12	2	1	2	1	0	0	2	2	8	1	4	4	3	1	1	4	3	1	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:44069550G>A	uc001cjr.3	+	15	3067	c.2727G>A	c.(2725-2727)agG>agA	p.R909R	PTPRF_uc001cjs.3_Silent_p.R900R|PTPRF_uc001cju.3_Intron|PTPRF_uc009vwt.3_Silent_p.R469R|PTPRF_uc001cjv.3_Silent_p.R369R|PTPRF_uc001cjw.3_Silent_p.R135R	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	909	Fibronectin type-III 6.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGAGATCAGGACCCCCGAGG	0.627													A	44069550	G	A	44069550	2	1	222	1	0	0	0	0	0	0	0	1	12889	1165	41	2		2	PTPRF	1	44069550	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	2962076	44069550	205181071	4	15159											
WLS	79971	broad.mit.edu	37	chr1	68603590	68603590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttggactgtgacgccGccccatttccaatggccttc	6	12	8	15	2	1	1	1	1	0	0	3	2	2	2	5	2	0	0	5	2	1	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:68603590G>A	uc001dee.3	-	10	1685	c.1383C>T	c.(1381-1383)ggC>ggT	p.G461G	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Silent_p.G463G|WLS_uc001deg.2_Silent_p.G372G|WLS_uc009wbf.1_Silent_p.G418G	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	463					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						CTGTGACGCCGCCCCATTTCC	0.443													A	68603590	G	A	68603590	2	1	222	1	0	0	0	0	0	0	0	1	17478	1074	38	1		1	WLS	1	68603590	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	24534040	68603590	180647031	5	15160											
ATP1A1	476	broad.mit.edu	37	chr1	116943788	116943788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgtggagttcacctgcCacacagccttcttcgtcagt	9	11	8	13	2	3	0	2	0	1	0	5	1	3	1	3	1	2	1	3	1	1	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:116943788C>T	uc001ege.3	+	19	3094	c.2755C>T	c.(2755-2757)Cac>Tac	p.H919Y	ATP1A1_uc010owv.1_Missense_Mutation_p.H888Y|ATP1A1_uc010oww.2_Missense_Mutation_p.H919Y|ATP1A1_uc010owx.2_Missense_Mutation_p.H888Y|ATP1A1OS_uc009whb.2_Intron|ATP1A1OS_uc001egg.3_Intron	NM_000701	NP_001153706	P05023	AT1A1_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 1 polypeptide (ATP1A1), transcript variant 1, mRNA.	919					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GTTCACCTGCCACACAGCCTT	0.532													T	116943788	C	T	116943788	3	4	222	1	0	0	0	0	1	0	0	0	1133	594	21	2	2849	2	ATP1A1	1	116943788	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	48340198	116943788	132306833	6	15161											
TBX15	6913	broad.mit.edu	37	chr1	119441665	119441665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccttgctgcttctgcAtggtggtgaagtcttcgaag	6	15	11	9	1	2	1	0	1	2	0	3	2	2	1	1	2	4	3	1	2	3	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:119441665A>G	uc001ehl.1	-	6	1007	c.692T>C	c.(691-693)aTg>aCg	p.M231T	TBX15_uc009whj.1_Missense_Mutation_p.M22T	NM_152380	NP_689593	Q96SF7	TBX15_HUMAN	Homo sapiens T-box 15 (TBX15), mRNA.	337						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		CTGCTTCTGCATGGTGGTGAA	0.527													G	119441665	A	G	119441665	3	3	222	1	0	0	0	0	1	0	0	0	15752	217	8	3	806	3	TBX15	1	119441665	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	2497877	119441665	129808956	7	15162											
SV2A	9900	broad.mit.edu	37	chr1	149885276	149885276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatcttcgggaatattcGtcctggactctgtccaggcc	7	12	10	12	3	2	0	0	0	2	0	6	3	4	2	3	3	1	0	3	3	3	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:149885276G>A	uc001etg.3	-	1	608	c.117C>T	c.(115-117)gaC>gaT	p.D39D	SV2A_uc001eth.2_Silent_p.D39D	NM_014849	NP_055664	Q7L0J3	SV2A_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2A (SV2A), mRNA.	39	Interaction with SYT1 (By similarity).				neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity	p.D39D(4)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	GGGAATATTCGTCCTGGACTC	0.542													A	149885276	G	A	149885276	2	1	222	1	0	0	0	0	0	0	0	1	15513	1136	40	1		1	SV2A	1	149885276	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	30443611	149885276	99365345	8	15163											
FLG	2312	broad.mit.edu	37	chr1	152283084	152283084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgactggccacgtgcGgactctttgtggctctgctg	3	12	12	14	2	2	1	0	1	2	0	3	2	3	2	3	3	2	2	3	3	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr1:152283084G>A	uc001ezu.1	-	2	4314	c.4278C>T	c.(4276-4278)tcC>tcT	p.S1426S	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1426	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCACGTGCGGACTCTTTGT	0.557									Ichthyosis				A	152283084	G	A	152283084	2	1	222	1	0	0	0	0	0	0	0	1	5971	1103	39	1		1	FLG	1	152283084	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	2397808	152283084	96967537	9	15164											
E2F6	1876	broad.mit.edu	37	chr2	11587770	11587770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccttcctcagggccttctGgatgagtgctctcagatgaa	8	12	10	11	0	3	3	2	2	2	1	5	4	4	4	3	2	2	1	3	2	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:11587770G>A	uc002rbh.3	-	5	1074	c.782C>T	c.(781-783)cCa>cTa	p.P261L	E2F6_uc002rbg.3_Missense_Mutation_p.P186L|E2F6_uc002rbi.3_Missense_Mutation_p.P186L|E2F6_uc010yjl.2_Non-coding_Transcript|E2F6_uc002rbe.3_Missense_Mutation_p.P186L|E2F6_uc002rbf.3_Missense_Mutation_p.P229L	NM_198256	NP_937987	O75461	E2F6_HUMAN	Homo sapiens E2F transcription factor 6 (E2F6), mRNA.	261	Transcription repression.				negative regulation of transcription from RNA polymerase II promoter	MLL1 complex|transcription factor complex	DNA binding|transcription corepressor activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.114)|OV - Ovarian serous cystadenocarcinoma(76;0.168)		AGGGCCTTCTGGATGAGTGCT	0.398													A	11587770	G	A	11587770	3	1	222	1	0	0	0	0	1	0	0	0	4910	1348	47	2	71	2	E2F6	2	11587770	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		11587770	231611603	10	15165											
MAP4K3	8491	broad.mit.edu	37	chr2	39509673	39509673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcactttaggtgttggaGgaagaccattactaataggc	12	11	11	7	0	0	1	0	0	0	1	0	3	0	3	1	4	2	2	1	4	5	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:39509673G>A	uc002rro.3	-	21	1701	c.1610C>T	c.(1609-1611)cCt>cTt	p.P537L	MAP4K3_uc002rrp.3_Missense_Mutation_p.P516L|MAP4K3_uc010yns.2_Missense_Mutation_p.P90L	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	537					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.L536I(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				AGGTGTTGGAGGAAGACCATT	0.323													A	39509673	G	A	39509673	3	1	222	1	0	0	0	0	1	0	0	0	9336	1000	35	2	1126	2	MAP4K3	2	39509673	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	27921903	39509673	203689700	11	15166											
PPM1B	5495	broad.mit.edu	37	chr2	44428594	44428594	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactactaacgaagactttAgggcagctggaaaatcagga	15	8	10	8	1	2	1	2	0	0	1	2	4	2	3	0	3	3	2	0	3	6	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:44428594A>G	uc002rtt.3	+	1	684	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	PPM1B_uc002rts.3_Missense_Mutation_p.R86G|PPM1B_uc002rtu.3_Missense_Mutation_p.R86G|PPM1B_uc002rtv.3_Intron|PPM1B_uc002rtw.3_Missense_Mutation_p.R86G|PPM1B_uc002rtx.3_Missense_Mutation_p.R86G	NM_002706	NP_002697	O75688	PPM1B_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1B (PPM1B), transcript variant 1, mRNA.	86					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity	p.R86G(2)|p.F85F(1)		kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CGAAGACTTTAGGGCAGCTGG	0.383													G	44428594	A	G	44428594	3	3	222	1	0	0	0	0	1	0	0	0	12418	411	15	3	258	3	PPM1B	2	44428594	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4918921	44428594	198770779	12	15167											
POU3F3	5455	broad.mit.edu	37	chr2	105473303	105473303	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggccgacagcctgcagctCgagaaggaggtggtgcgggt	7	6	18	10	3	0	1	0	0	0	1	1	4	0	2	2	5	4	2	2	5	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:105473303C>G	uc010ywg.2	+	0	1335	c.1335C>G	c.(1333-1335)ctC>ctG	p.L445L		NM_006236	NP_006227	P20264	PO3F3_HUMAN	Homo sapiens POU class 3 homeobox 3 (POU3F3), mRNA.	445					metanephric ascending thin limb development|metanephric DCT cell differentiation|metanephric macula densa development|metanephric thick ascending limb development|negative regulation of apoptosis|positive regulation of cell proliferation	nucleus	sequence-specific DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12						GCCTGCAGCTCGAGAAGGAGG	0.642													G	105473303	C	G	105473303	2	3	222	1	0	0	0	0	0	0	0	1	12353	871	31	4		4	POU3F3	2	105473303	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	61044709	105473303	137726070	13	15168											
MERTK	10461	broad.mit.edu	37	chr2	112786347	112786347	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttaggaatggggtctcctGgtcccattcgagcatgctgc	6	12	13	10	1	1	0	0	0	1	0	4	2	2	1	2	4	3	3	2	4	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:112786347G>A	uc002thk.1	+	18	3028	c.2906G>A	c.(2905-2907)tGg>tAg	p.W969*	MERTK_uc002thl.1_Nonsense_Mutation_p.W793*	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	969					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GGGGTCTCCTGGTCCCATTCG	0.527													A	112786347	G	A	112786347	4	1	222	1	0	0	0	0	0	1	0	0	9554	1357	47	2	2980	2	MERTK	2	112786347	Nonsense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7313044	112786347	130413026	14	15169											
MCM6	4175	broad.mit.edu	37	chr2	136627932	136627932	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacacaggtaagggtaaactCtgaaaaacaaaaaagtcagc	20	5	9	7	0	2	1	1	1	1	0	2	2	2	1	0	2	3	2	0	2	8	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:136627932C>G	uc002tuw.3	-	3	331	c.255_splice	c.e3-1	p.R85_splice		NM_005915	NP_005906	Q14566	MCM6_HUMAN	Homo sapiens minichromosome maintenance complex component 6 (MCM6), mRNA.	85					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	AGGGTAAACTCTGAAAAACAA	0.428													G	136627932	C	G	136627932	5	3	222	1	0	0	0	0	0	0	1	0	9466	927	32	4	2271	4	MCM6	2	136627932	Splice_Site	SNP	C	TCGA-32-1977-01A-01D-1353-08	23841585	136627932	106571441	15	15170											
ACVR1C	130399	broad.mit.edu	37	chr2	158412763	158412763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcccatactgtcagcatcGcagctatggacaggaggcaa	12	7	11	11	1	1	0	1	0	0	0	2	2	1	2	1	3	4	4	1	3	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:158412763G>A	uc002tzk.4	-	2	629	c.386C>T	c.(385-387)gCg>gTg	p.A129V	ACVR1C_uc002tzl.4_Intron|ACVR1C_uc010fof.3_Intron|ACVR1C_uc010foe.3_Missense_Mutation_p.A79V	NM_145259	NP_001104501	Q8NER5	ACV1C_HUMAN	Homo sapiens activin A receptor, type IC (ACVR1C), transcript variant 1, mRNA.	129					apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	p.A129A(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TGTCAGCATCGCAGCTATGGA	0.478													A	158412763	G	A	158412763	3	1	222	1	0	0	0	0	1	0	0	0	222	1087	38	1	1123	1	ACVR1C	2	158412763	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	21784831	158412763	84786610	16	15171											
FAP	2191	broad.mit.edu	37	chr2	163070563	163070563	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcagtaacccacgtgAgccaactgaaataataatca	16	9	6	10	1	3	2	3	2	0	0	3	2	3	2	2	0	3	2	2	0	5	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:163070563A>T	uc002ucd.3	-	10	1095	c.887T>A	c.(886-888)cTc>cAc	p.L296H	FAP_uc010zct.2_Missense_Mutation_p.L271H|FAP_uc010fpe.1_Missense_Mutation_p.L263H	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	296					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						AACCCACGTGAGCCAACTGAA	0.368													T	163070563	A	T	163070563	3	4	222	1	0	0	0	0	1	0	0	0	5722	304	11	5	1459	5	FAP	2	163070563	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4657800	163070563	80128810	17	15172											
LRP2	4036	broad.mit.edu	37	chr2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatactgaactactgtgcGtctcgttttatcagctagcc	10	14	7	10	2	2	1	1	1	1	0	3	1	2	1	1	0	6	2	1	0	7	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:170115593G>A	uc002ues.3	-	16	2668	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_uc010zdf.1_Missense_Mutation_p.R682C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	819					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R819C(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTACTGTGCGTCTCGTTTTA	0.398													A	170115593	G	A	170115593	3	1	222	1	0	0	0	0	1	0	0	0	9026	1145	40	1	11764	1	LRP2	2	170115593	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7045030	170115593	73083780	18	15173											
COL3A1	1281	broad.mit.edu	37	chr2	189867049	189867049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtgaaactggccctcCaggacctgctggtttccctg	7	9	13	12	0	0	2	0	1	0	1	2	4	2	3	4	4	2	2	4	4	1	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:189867049C>G	uc002uqj.1	+	34	2534	c.2417C>G	c.(2416-2418)cCa>cGa	p.P806R		NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	806	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	ACTGGCCCTCCAGGACCTGCT	0.438													G	189867049	C	G	189867049	3	3	222	1	0	0	0	0	1	0	0	0	3719	594	21	4	2555	4	COL3A1	2	189867049	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	19751456	189867049	53332324	19	15174											
MARCH4	57574	broad.mit.edu	37	chr2	217234856	217234856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggtcattgaagagcatgCggcagcggcacttgaggaga	11	7	15	8	2	2	4	2	2	0	2	2	5	2	4	0	4	3	3	0	4	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:217234856C>T	uc002vgb.3	-	0	1895	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_020814	NP_065865	Q9P2E8	MARH4_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 4 (MARCH4), mRNA.	43						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		GAAGAGCATGCGGCAGCGGCA	0.652													T	217234856	C	T	217234856	3	4	222	1	0	0	0	0	1	0	0	0	9378	768	27	1	1120	1	MARCH4	2	217234856	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	27367807	217234856	25964517	20	15175											
DIS3L2	129563	broad.mit.edu	37	chr2	233194556	233194556	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctcttggccaacatGgcagtggcccacaagatcca	10	9	9	13	0	2	1	1	0	1	1	3	1	3	1	3	3	2	2	3	3	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr2:233194556G>C	uc010fxz.3	+	14	2049	c.1773G>C	c.(1771-1773)atG>atC	p.M591I	DIS3L2_uc002vsm.4_Intron|DIS3L2_uc002vso.3_Non-coding_Transcript	NM_152383	NP_689596	Q8IYB7	DI3L2_HUMAN	Homo sapiens DIS3 mitotic control homolog (S. cerevisiae)-like 2 (DIS3L2), mRNA.	591							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		TGGCCAACATGGCAGTGGCCC	0.657													C	233194556	G	C	233194556	3	2	222	1	0	0	0	0	1	0	0	0	4576	1348	47	4	1827	4	DIS3L2	2	233194556	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	15959700	233194556	10004817	21	15176											
ITIH4	3700	broad.mit.edu	37	chr3	52857940	52857940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatagctgacgtcgaaacCgaagcccaggcagaagaggc	13	3	14	11	3	0	3	0	1	0	2	1	5	0	3	2	3	3	3	2	3	4	1	rs141154056	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:52857940C>T	uc011bem.2	-	9	1280	c.1252G>A	c.(1252-1254)Ggt>Agt	p.G418S	ITIH4_uc011bel.2_Missense_Mutation_p.G148S|ITIH4_uc003dfy.3_Missense_Mutation_p.G282S|ITIH4_uc003dfz.3_Missense_Mutation_p.G418S|ITIH4_uc011ben.2_Missense_Mutation_p.G418S	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	418	VWFA.				acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACGTCGAAACCGAAGCCCAGG	0.612													T	52857940	C	T	52857940	3	4	222	1	0	0	0	0	1	0	0	0	7964	652	23	1	1600	1	ITIH4	3	52857940	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		52857940	145164490	22	15177											
IL17RB	55540	broad.mit.edu	37	chr3	53891662	53891662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacaccagaagaaacaaaCgcgagcttcagtggtgattc	14	6	10	11	2	1	3	1	1	0	2	2	4	1	3	2	1	3	1	2	1	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:53891662C>T	uc003dha.3	+	7	731	c.692C>T	c.(691-693)aCg>aTg	p.T231M		NM_018725	NP_061195	Q9NRM6	I17RB_HUMAN	Homo sapiens interleukin 17 receptor B (IL17RB), mRNA.	231					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		AAGAAACAAACGCGAGCTTCA	0.517													T	53891662	C	T	53891662	3	4	222	1	0	0	0	0	1	0	0	0	7698	536	19	1	722	1	IL17RB	3	53891662	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1033722	53891662	144130768	23	15178											
PTPRG	5793	broad.mit.edu	37	chr3	61975388	61975388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttagaccagtatgcgCgtgttggggaagaataccag	12	10	12	7	2	0	2	0	0	0	2	0	3	0	3	2	2	2	2	2	2	5	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:61975388C>T	uc003dlb.3	+	2	999	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	PTPRG_uc003dlc.3_Missense_Mutation_p.R94C	NM_002841	NP_002832	P23470	PTPRG_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, G (PTPRG), mRNA.	94	Alpha-carbonic anhydrase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	identical protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.R94C(2)		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)		CCAGTATGCGCGTGTTGGGGA	0.488													T	61975388	C	T	61975388	3	4	222	1	0	0	0	0	1	0	0	0	12890	768	27	1	290	1	PTPRG	3	61975388	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	8083726	61975388	136047042	24	15179											
C3orf30	152405	broad.mit.edu	37	chr3	118865302	118865302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacctggtcaggctggccGcagagcatccaaccctgctg	8	7	11	15	1	1	1	1	0	0	1	2	1	2	1	4	3	4	4	4	3	2	1	rs138666071		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:118865302G>A	uc003ecb.1	+	0	306	c.266G>A	c.(265-267)cGc>cAc	p.R89H	IGSF11_uc003eby.3_5'Flank|IGSF11_uc003ebz.3_5'Flank|IGSF11_uc010hqs.3_5'Flank|C3orf30_uc011biw.1_Missense_Mutation_p.R89H	NM_152539	NP_689752	Q96M34	CC030_HUMAN	Homo sapiens chromosome 3 open reading frame 30 (C3orf30), mRNA.	89								p.G88C(1)		NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CAGGCTGGCCGCAGAGCATCC	0.502													A	118865302	G	A	118865302	3	1	222	1	0	0	0	0	1	0	0	0	2241	1087	38	1	268	1	C3orf30	3	118865302	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	56889914	118865302	79157128	25	15180											
OTOL1	131149	broad.mit.edu	37	chr3	161221595	161221595	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctctctcctcgtcatcttGaaattaagtgcaggagacca	10	11	8	12	1	3	2	1	1	2	1	6	3	4	2	3	1	1	1	3	1	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:161221595G>C	uc011bpb.2	+	3	1299	c.1299G>C	c.(1297-1299)ttG>ttC	p.L433F		NM_001080440	NP_001073909	A6NHN0	OTOL1_HUMAN	Homo sapiens otolin 1 (OTOL1), mRNA.	433	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						TCGTCATCTTGAAATTAAGTG	0.468													C	161221595	G	C	161221595	3	2	222	1	0	0	0	0	1	0	0	0	11380	1281	45	4	1313	4	OTOL1	3	161221595	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	42356293	161221595	36800835	26	15181											
TP63	8626	broad.mit.edu	37	chr3	189604307	189604307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcagcgcaacgccctcactCctacaaccattcctgatggc	10	7	7	17	2	1	1	1	1	0	0	3	1	3	1	4	1	5	2	4	1	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr3:189604307C>T	uc003fry.2	+	10	1563	c.1474C>T	c.(1474-1476)Cct>Tct	p.P492S	TP63_uc003frz.2_Missense_Mutation_p.P492S|TP63_uc010hzc.1_Missense_Mutation_p.P492S|TP63_uc003fsc.2_Missense_Mutation_p.P398S|TP63_uc003fsd.2_Missense_Mutation_p.P398S|TP63_uc021xir.1_Missense_Mutation_p.P398S|TP63_uc010hzd.1_Missense_Mutation_p.P313S	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	492					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CGCCCTCACTCCTACAACCAT	0.498										HNSCC(45;0.13)			T	189604307	C	T	189604307	3	4	222	1	0	0	0	0	1	0	0	0	16493	855	30	2	1681	2	TP63	3	189604307	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	28382712	189604307	8418123	27	15182											
FGFRL1	53834	broad.mit.edu	37	chr4	1019042	1019042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctaagttgtaccccaaactCtacacagacatccacacaca	15	7	3	16	0	1	1	0	0	1	1	2	1	2	1	4	0	3	2	4	0	4	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:1019042C>T	uc003gce.3	+	6	1583	c.1422C>T	c.(1420-1422)ctC>ctT	p.L474L	FGFRL1_uc003gcf.3_Silent_p.L474L|FGFRL1_uc003gcg.3_Silent_p.L474L|FGFRL1_uc010ibo.3_Silent_p.L474L	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	474					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			ACCCCAAACTCTacacagaca	0.597													T	1019042	C	T	1019042	2	4	222	1	0	0	0	0	0	0	0	1	5918	900	32	2		2	FGFRL1	4	1019042	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		1019042	190135234	28	15183											
PCDH7	5099	broad.mit.edu	37	chr4	30725505	30725505	+	Frame_Shift_Del	DEL	G	G	-																															tgcacaggttggtggtgcaaGtgaatgacagtgggcagcct																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:30725505delG	uc003gsk.1	+	0	3469	c.2461delG	c.(2461-2463)gtgfs	p.V821fs	PCDH7_uc011bxx.2_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnd.1_Frame_Shift_Del_p.V821fs|PCDH7_uc021xnc.1_Frame_Shift_Del_p.V821fs	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	821	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GGTGGTGCAAGTGAATGACAG	0.483													-	30725505	G	-	30725505	7	5	222	1	0	1	0	1	0	0	0	0	11592	1029	36	0	2463	0	PCDH7	4	30725505	Frame_Shift_Del	DEL	G	TCGA-32-1977-01A-01D-1353-08	29706463	30725505	160428771	29	15184											
CNGA1	1259	broad.mit.edu	37	chr4	47945299	47945299	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattttcgtttttatcatcTgacttgctgaaaaaattaag	12	19	5	5	1	2	2	1	2	1	0	3	2	2	2	0	0	1	2	0	0	6	8			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:47945299T>A	uc003gxu.3	-	6	696	c.555A>T	c.(553-555)tcA>tcT	p.S185S	BC041434_uc003gxr.1_Intron|CNGA1_uc003gxt.4_Silent_p.S116S|CNGA1_uc003gxv.1_Silent_p.S116S	NM_001142564	NP_000078	P29973	CNGA1_HUMAN	Homo sapiens cyclic nucleotide gated channel alpha 1 (CNGA1), transcript variant 1, mRNA.	116					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTTTATCATCTGACTTGCTGA	0.318													A	47945299	T	A	47945299	2	1	222	1	0	0	0	0	0	0	0	1	3627	1567	55	5		5	CNGA1	4	47945299	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	17219794	47945299	143208977	30	15185											
UGT2B28	54490	broad.mit.edu	37	chr4	70160416	70160416	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaccactctttggatgtGattgggtttctgctggcctg	5	15	12	9	0	2	1	0	1	2	0	2	2	2	2	2	3	2	3	2	3	1	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:70160416G>T	uc003hej.3	+	5	1481	c.1479G>T	c.(1477-1479)gtG>gtT	p.V493V	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	493					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTTTGGATGTGATTGGGTTTC	0.463													T	70160416	G	T	70160416	2	4	222	1	0	0	0	0	0	0	0	1	17062	1277	45	4		4	UGT2B28	4	70160416	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	22215117	70160416	120993860	31	15186											
NAAA	27163	broad.mit.edu	37	chr4	76836138	76836138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgtagtataaattgtgaaGctgaaaattatgaggaaatt	17	12	9	3	1	0	3	0	3	0	0	0	4	0	4	1	1	1	3	1	1	9	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:76836138G>A	uc003hjb.3	-	10	1063	c.999_splice	c.e10-1	p.N333_splice	NAAA_uc003hja.3_Intron	NM_014435	NP_055250	Q02083	NAAA_HUMAN	Homo sapiens N-acylethanolamine acid amidase (NAAA), transcript variant 1, mRNA.	333					lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						AAATTGTGAAGCTGAAAATTA	0.408													A	76836138	G	A	76836138	2	1	222	1	0	0	0	0	0	0	0	1	10203	985	34	2		2	NAAA	4	76836138	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	6675722	76836138	114318138	32	15187											
SHROOM3	57619	broad.mit.edu	37	chr4	77661454	77661454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accctgggaggaaagccgctCctgacctcgggagccatctg	8	6	13	14	2	1	1	0	1	1	0	3	4	2	4	5	3	2	1	5	3	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:77661454C>A	uc011cbx.2	+	4	3081	c.2128C>A	c.(2128-2130)Cct>Act	p.P710T	SHROOM3_uc011cbz.1_Missense_Mutation_p.P534T|SHROOM3_uc003hkf.1_Missense_Mutation_p.P585T|SHROOM3_uc003hkg.3_Missense_Mutation_p.P488T	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	710					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GAAAGCCGCTCCTGACCTCGG	0.667													A	77661454	C	A	77661454	3	1	222	1	0	0	0	0	1	0	0	0	14389	855	30	4	2146	4	SHROOM3	4	77661454	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	825316	77661454	113492822	33	15188											
SEC24B	10427	broad.mit.edu	37	chr4	110437770	110437770	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatatttgacaattttgtgCcagtcactcctagaaaatct	12	14	7	8	0	2	2	1	1	1	1	3	3	3	3	2	1	1	0	2	1	5	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr4:110437770C>A	uc003hzk.3	+	10	2155	c.2100C>A	c.(2098-2100)tgC>tgA	p.C700*	SEC24B_uc003hzl.3_Nonsense_Mutation_p.C665*|SEC24B_uc011cfp.2_Nonsense_Mutation_p.C730*|SEC24B_uc011cfq.2_Nonsense_Mutation_p.C699*|SEC24B_uc011cfr.2_Nonsense_Mutation_p.C664*	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	700					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CAATTTTGTGCCAGTCACTCC	0.318													A	110437770	C	A	110437770	4	1	222	1	0	0	0	0	0	1	0	0	14088	747	26	4	2142	4	SEC24B	4	110437770	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	32776316	110437770	80716506	34	15189											
LYSMD3	116068	broad.mit.edu	37	chr5	89821101	89821101	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgattctgatgcctcccTgccataatgttaaaatctgg	10	13	7	11	1	2	1	0	1	2	0	3	2	3	1	3	1	3	1	3	1	4	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:89821101T>C	uc003kjr.3	-	1	154	c.6A>G	c.(4-6)gcA>gcG	p.A2A	LYSMD3_uc010jaz.2_Silent_p.A2A|LYSMD3_uc003kjs.1_Silent_p.A2A	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	2					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		GATGCCTCCCTGCCATAATGT	0.403													C	89821101	T	C	89821101	2	2	222	1	0	0	0	0	0	0	0	1	9197	1567	55	3		3	LYSMD3	5	89821101	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08		89821101	91094159	35	15190											
SLC27A6	28965	broad.mit.edu	37	chr5	128359401	128359401	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtgtattcatgtgaaaaAaggtaagacttctatttgaa	14	15	9	3	0	2	3	1	2	1	1	2	3	2	3	0	2	0	2	0	2	7	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:128359401A>G	uc003kuy.3	+	6	1649	c.1253A>G	c.(1252-1254)aAa>aGa	p.K418R	SLC27A6_uc003kuz.3_Missense_Mutation_p.K418R	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	418					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		CATGTGAAAAAAGGTAAGACT	0.398													G	128359401	A	G	128359401	3	3	222	1	0	0	0	0	1	0	0	0	14624	14	1	3	1275	3	SLC27A6	5	128359401	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	38538300	128359401	52555859	36	15191											
DOCK2	1794	broad.mit.edu	37	chr5	169097547	169097547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgttttgtttccaacaggGcatttttcctaagtcattta	8	20	6	7	0	1	0	1	0	0	0	3	0	3	0	2	1	1	3	2	1	3	9			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr5:169097547G>A	uc003maf.3	+	4	249	c.169_splice	c.e4-1	p.G57_splice	DOCK2_uc011der.2_Splice_Site	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Homo sapiens dedicator of cytokinesis 2 (DOCK2), mRNA.	57	SH3.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ttCCAACAGGGCATTTTTCCT	0.348													A	169097547	G	A	169097547	3	1	222	1	0	0	0	0	1	0	0	0	4726	1217	42	2	184	2	DOCK2	5	169097547	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	40738146	169097547	11817713	37	15192											
GFOD1	85411	broad.mit.edu	37	chr6	13470477	13470477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaagaagggcaattgcCggctcatgaagcacatccct	12	7	11	11	1	1	2	1	1	0	1	2	3	2	3	2	3	2	3	2	3	4	1	rs150464914		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:13470477C>T	uc003nat.2	-						GFOD1_uc003nas.2_Intron|GFOD1_uc003nau.3_Non-coding_Transcript|GFOD1_uc003nav.3_Non-coding_Transcript|GFOD1_uc021ylu.1_3'UTR	NM_018988	NP_001229559	Q9NXC2	GFOD1_HUMAN	Homo sapiens glucose-fructose oxidoreductase domain containing 1 (GFOD1), transcript variant 1, mRNA.							extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGGCAATTGCCGGCTCATGAA	0.572													T	13470477	C	T	13470477	2	4	222	1	0	0	0	0	0	0	0	1	6399	639	23	1		1	GFOD1	6	13470477	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		13470477	157644590	38	15193											
PHF1	5252	broad.mit.edu	37	chr6	33382871	33382871	+	Frame_Shift_Del	DEL	C	C	-																															cctcagcagtgcgcaatcagCccgagccccaggagcagagg																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:33382871delC	uc003oeh.3	+	11	1425	c.1189delC	c.(1189-1191)cccfs	p.P397fs	PHF1_uc011drh.2_Non-coding_Transcript|PHF1_uc003oei.3_Frame_Shift_Del_p.A393fs|PHF1_uc010jux.3_Frame_Shift_Del_p.P197fs	NM_024165	NP_077084	O43189	PHF1_HUMAN	Homo sapiens PHD finger protein 1 (PHF1), transcript variant 2, mRNA.	397					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCGCAATCAGCCCGAGCCCCA	0.677											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	33382871	C	-	33382871	7	5	222	1	0	1	0	1	0	0	0	0	11897	739	26	0	1231	0	PHF1	6	33382871	Frame_Shift_Del	DEL	C	TCGA-32-1977-01A-01D-1353-08	19912394	33382871	137732196	39	15194											
ZNF76	7629	broad.mit.edu	37	chr6	35261624	35261624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatccccagtcctgatGccgacctggccacatctggc	7	8	8	18	1	2	1	1	1	1	0	4	2	4	1	7	2	1	0	7	2	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:35261624G>A	uc003oki.1	+	11	1631	c.1426G>A	c.(1426-1428)Gcc>Acc	p.A476T	ZNF76_uc003okj.1_Intron	NM_003427	NP_003418	P36508	ZNF76_HUMAN	Homo sapiens zinc finger protein 76 (ZNF76), mRNA.	476					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CAGTCCTGATGCCGACCTGGC	0.627													A	35261624	G	A	35261624	3	1	222	1	0	0	0	0	1	0	0	0	18235	1319	46	2	1468	2	ZNF76	6	35261624	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	1878753	35261624	135853443	40	15195											
DNAH8	1769	broad.mit.edu	37	chr6	38998047	38998047	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagctgtatgtgtgtcCtatttacaagaaacccaggc	11	10	8	12	0	0	1	0	0	0	1	1	1	1	1	4	1	3	2	4	1	6	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:38998047C>G	uc021yzh.1	+	92	14112	c.14003C>G	c.(14002-14004)cCt>cGt	p.P4668R	DNAH8_uc003ooe.2_Missense_Mutation_p.P4451R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TATGTGTGTCCTATTTACAAG	0.507													G	38998047	C	G	38998047	3	3	222	1	0	0	0	0	1	0	0	0	4646	681	24	4	13706	4	DNAH8	6	38998047	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	3736423	38998047	132117020	41	15196											
COL10A1	1300	broad.mit.edu	37	chr6	116442546	116442546	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacctggtgggccaattgGtcccatttctcccggaaaac	8	9	12	12	1	1	0	0	0	1	0	3	2	2	2	4	5	1	0	4	5	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr6:116442546G>T	uc003pwm.3	-	2	829	c.733C>A	c.(733-735)Cca>Aca	p.P245T	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	245	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGGCCAATTGGTCCCATTTCT	0.597													T	116442546	G	T	116442546	3	4	222	1	0	0	0	0	1	0	0	0	3697	1261	44	4	1313	4	COL10A1	6	116442546	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	77444499	116442546	54672521	42	15197											
CRHR2	1395	broad.mit.edu	37	chr7	30695576	30695576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggatgtggtggacgcgCgtaactttgtcattaggatc	7	13	13	8	4	2	0	1	0	1	0	4	3	2	3	0	4	1	1	0	4	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:30695576C>T	uc003tbn.3	-	8	1129	c.884G>A	c.(883-885)cGc>cAc	p.R295H	CRHR2_uc010kvw.2_Missense_Mutation_p.R295H|CRHR2_uc010kvx.2_Missense_Mutation_p.R294H|CRHR2_uc022abg.1_Non-coding_Transcript|CRHR2_uc010kvy.2_Missense_Mutation_p.R131H|CRHR2_uc003tbo.3_Missense_Mutation_p.R281H|CRHR2_uc003tbp.3_Missense_Mutation_p.R322H	NM_001883	NP_001874	Q13324	CRFR2_HUMAN	Homo sapiens corticotropin releasing hormone receptor 2 (CRHR2), transcript variant 1, mRNA.	295					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GGTGGACGCGCGTAACTTTGT	0.552													T	30695576	C	T	30695576	3	4	222	1	0	0	0	0	1	0	0	0	3903	768	27	1	367	1	CRHR2	7	30695576	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		30695576	128443087	43	15198											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74004217	74004217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agactcggggagaaggtgatCctgcgggagcaggtgaagga	11	5	19	6	2	0	4	0	2	0	2	2	7	1	6	1	6	2	1	1	6	2	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:74004217C>T	uc003uaq.3	+	22	2796	c.2403C>T	c.(2401-2403)atC>atT	p.I801I	GTF2IRD1_uc010lbq.3_Silent_p.I818I|GTF2IRD1_uc003uap.3_Silent_p.I786I|GTF2IRD1_uc003uar.1_Silent_p.I786I	NM_016328	NP_057412	Q9UHL9	GT2D1_HUMAN	Homo sapiens GTF2I repeat domain containing 1 (GTF2IRD1), transcript variant 1, mRNA.	801						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAAGGTGATCCTGCGGGAGC	0.592													T	74004217	C	T	74004217	2	4	222	1	0	0	0	0	0	0	0	1	6923	845	30	2		2	GTF2IRD1	7	74004217	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	43308641	74004217	85134446	44	15199											
CTTNBP2	83992	broad.mit.edu	37	chr7	117400762	117400762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttaagggtattttaagagCatctgttagaagagtaaaag	15	12	10	4	0	1	3	0	0	1	3	1	3	1	3	1	1	1	4	1	1	7	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:117400762C>A	uc003vjf.3	-	9	2991	c.2899G>T	c.(2899-2901)Gct>Tct	p.A967S		NM_033427	NP_219499	Q8WZ74	CTTB2_HUMAN	Homo sapiens cortactin binding protein 2 (CTTNBP2), mRNA.	967										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		ATTTTAAGAGCATCTGTTAGA	0.284													A	117400762	C	A	117400762	3	1	222	1	0	0	0	0	1	0	0	0	4078	710	25	4	2148	4	CTTNBP2	7	117400762	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	43396545	117400762	41737901	45	15200											
FLNC	2318	broad.mit.edu	37	chr7	128489530	128489530	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggttgagaaccatgaCggtacctttgacatctacta	11	12	10	8	1	1	3	0	3	1	1	1	5	1	3	2	2	3	2	2	2	4	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:128489530C>G	uc003vnz.4	+	29	5306	c.5097C>G	c.(5095-5097)gaC>gaG	p.D1699E	FLNC_uc003voa.4_Missense_Mutation_p.D1699E	NM_001458	NP_001449	Q14315	FLNC_HUMAN	Homo sapiens filamin C, gamma (FLNC), transcript variant 1, mRNA.	1699					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612													G	128489530	C	G	128489530	3	3	222	1	0	0	0	0	1	0	0	0	5984	535	19	4	5215	4	FLNC	7	128489530	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	11088768	128489530	30649133	46	15201											
MEST	4232	broad.mit.edu	37	chr7	130140656	130140656	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtctttgggccgtataCtcggccctctgagagtgagc	6	10	12	13	2	2	2	0	2	2	1	3	3	2	2	3	2	2	1	3	2	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:130140656C>G	uc003vqg.3	+	8	930	c.674C>G	c.(673-675)aCt>aGt	p.T225S	MEST_uc003vqc.3_Missense_Mutation_p.T216S|MEST_uc003vqd.3_Intron|MEST_uc022alp.1_Intron|MEST_uc003vqf.3_Missense_Mutation_p.T216S|MEST_uc011kph.2_Missense_Mutation_p.T211S	NM_002402	NP_002393	Q5EB52	MEST_HUMAN	Homo sapiens mesoderm specific transcript homolog (mouse) (MEST), transcript variant 1, mRNA.	225					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					GGGCCGTATACTCGGCCCTCT	0.498													G	130140656	C	G	130140656	3	3	222	1	0	0	0	0	1	0	0	0	9559	565	20	4	708	4	MEST	7	130140656	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1651126	130140656	28998007	47	15202											
BPGM	669	broad.mit.edu	37	chr7	134346605	134346605	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaagtgaggctctggAgaagaagctacaatgtaacc	17	6	11	7	0	1	4	0	1	1	3	1	5	1	4	1	2	4	3	1	2	8	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:134346605A>T	uc003vrv.3	+	2	887	c.346A>T	c.(346-348)Aga>Tga	p.R116*	BPGM_uc003vrw.3_Nonsense_Mutation_p.R116*	NM_199186	NP_954655	P07738	PMGE_HUMAN	Homo sapiens 2,3-bisphosphoglycerate mutase (BPGM), transcript variant 2, mRNA.	116					glycolysis|respiratory gaseous exchange		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			breast(1)|endometrium(1)|lung(2)|stomach(1)	5						GAGGCTCTGGAGAAGAAGCTA	0.493													T	134346605	A	T	134346605	4	4	222	1	0	0	0	0	0	1	0	0	1497	296	11	5	348	5	BPGM	7	134346605	Nonsense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	4205949	134346605	24792058	48	15203											
CNTNAP2	26047	broad.mit.edu	37	chr7	147336290	147336290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatactcagtgacacagctcGtttacagcgcctccatggac	11	9	8	13	2	1	1	1	1	0	0	3	2	2	2	2	1	4	2	2	1	3	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr7:147336290G>A	uc003weu.2	+	12	2506	c.1990G>A	c.(1990-1992)Gtt>Att	p.V664I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	664	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GACACAGCTCGTTTACAGCGC	0.498										HNSCC(39;0.1)			A	147336290	G	A	147336290	3	1	222	1	0	0	0	0	1	0	0	0	3678	1145	40	1	2040	1	CNTNAP2	7	147336290	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12989685	147336290	11802373	49	15204											
DPYSL2	1808	broad.mit.edu	37	chr8	26510765	26510765	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagctggctgagctgagaggGgttcctcgtggcctgtatga	6	10	16	9	1	0	3	0	3	0	1	2	4	1	3	2	4	2	5	2	4	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:26510765G>A	uc003xfb.2	+	12	1910	c.1479G>A	c.(1477-1479)ggG>ggA	p.G493G	DPYSL2_uc003xfa.3_Silent_p.G598G|DPYSL2_uc011lah.2_Silent_p.G457G	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	493					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGCTGAGAGGGGTTCCTCGTG	0.602													A	26510765	G	A	26510765	2	1	222	1	0	0	0	0	0	0	0	1	4786	1219	43	2		2	DPYSL2	8	26510765	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		26510765	119853257	50	15205											
FBXL6	26233	broad.mit.edu	37	chr8	145579316	145579316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttgaggtagagcaggcCcgggcagctgctgatcacag	9	6	16	10	1	1	3	1	2	0	1	1	3	1	3	1	4	3	6	1	4	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr8:145579316C>G	uc003zcb.3	-	8	1571	c.1495G>C	c.(1495-1497)Ggc>Cgc	p.G499R	C8ORFK29_uc011llb.2_5'Flank|C8ORFK29_uc010mfw.3_5'Flank|C8ORFK29_uc003zby.4_5'Flank|FBXL6_uc003zbz.3_Missense_Mutation_p.G226R|FBXL6_uc003zca.3_Missense_Mutation_p.G493R|FBXL6_uc010mfx.3_Missense_Mutation_p.G260R|SLC52A2_uc003zcc.2_5'Flank|SLC52A2_uc003zce.2_5'Flank|SLC52A2_uc010mfy.2_5'Flank|SLC52A2_uc011llc.2_5'Flank|SLC52A2_uc003zcd.2_5'Flank	NM_012162	NP_036294	Q8N531	FBXL6_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 6 (FBXL6), transcript variant 1, mRNA.	499					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TAGAGCAGGCCCGGGCAGCTG	0.657													G	145579316	C	G	145579316	3	3	222	1	0	0	0	0	1	0	0	0	5772	623	22	4	128	4	FBXL6	8	145579316	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	119068551	145579316	784706	51	15206											
IFT74	80173	broad.mit.edu	37	chr9	26984346	26984346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcagtatatttgtcatatGaaaagaggtgagtaataagt	16	14	9	2	0	2	3	2	2	0	1	2	3	2	3	0	1	0	2	0	1	7	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:26984346G>C	uc010mja.3	+	4	524	c.397G>C	c.(397-399)Gaa>Caa	p.E133Q	IFT74_uc010mjb.3_Missense_Mutation_p.E133Q|IFT74_uc003zqf.4_Missense_Mutation_p.E133Q|IFT74_uc003zqg.4_Missense_Mutation_p.E133Q	NM_001099223	NP_079379	Q96LB3	IFT74_HUMAN	Homo sapiens intraflagellar transport 74 homolog (Chlamydomonas) (IFT74), transcript variant 3, mRNA.	133						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TTTGTCATATGAAAAGAGGTG	0.264													C	26984346	G	C	26984346	3	2	222	1	0	0	0	0	1	0	0	0	7621	1291	45	4	411	4	IFT74	9	26984346	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		26984346	114229085	52	15207											
GAPVD1	26130	broad.mit.edu	37	chr9	128069702	128069702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttttaacagagctgtgttgCcgctttccttgatgttgtga	6	17	11	7	1	0	3	0	2	0	1	1	3	1	3	2	0	3	5	2	0	1	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:128069702C>A	uc004bpp.3	+	4	1287	c.1127C>A	c.(1126-1128)gCc>gAc	p.A376D	GAPVD1_uc004bpo.3_Missense_Mutation_p.A376D|GAPVD1_uc011lzs.1_Missense_Mutation_p.A376D|GAPVD1_uc004bpq.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwx.3_Missense_Mutation_p.A376D|GAPVD1_uc004bpr.3_Missense_Mutation_p.A376D|GAPVD1_uc004bps.3_Missense_Mutation_p.A376D|GAPVD1_uc010mwy.1_Missense_Mutation_p.A235D	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	376					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGCTGTGTTGCCGCTTTCCTT	0.408													A	128069702	C	A	128069702	3	1	222	1	0	0	0	0	1	0	0	0	6293	739	26	4	1141	4	GAPVD1	9	128069702	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	101085356	128069702	13143729	53	15208											
SLC2A6	11182	broad.mit.edu	37	chr9	136338317	136338317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccacgccacgggcacgcagGggcaggacctcagacatgag	10	2	15	14	3	1	2	1	1	0	1	1	3	1	3	3	4	0	3	3	4	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr9:136338317G>A	uc004cee.3	-	8	1373	c.1278C>T	c.(1276-1278)ccC>ccT	p.P426P	SLC2A6_uc004cef.3_Silent_p.P364P|SLC2A6_uc004ceg.3_Silent_p.P403P	NM_017585	NP_060055	Q9UGQ3	GTR6_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 6 (SLC2A6), transcript variant 1, mRNA.	426						integral to membrane|plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;8.47e-08)|Epithelial(140;9.37e-07)|all cancers(34;1.03e-05)		GGGCACGCAGGGGCAGGACCT	0.672													A	136338317	G	A	136338317	2	1	222	1	0	0	0	0	0	0	0	1	14643	1219	43	2		2	SLC2A6	9	136338317	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	8268615	136338317	4875114	54	15209											
SLC18A3	6572	broad.mit.edu	37	chr10	50820049	50820049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtctatggcagcgtctaCgccatcgccgacatctccta	8	10	8	15	4	4	0	1	0	3	0	6	1	4	0	3	1	2	1	3	1	3	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:50820049C>T	uc001jhw.3	+	0	1703	c.1263C>T	c.(1261-1263)taC>taT	p.Y421Y	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	421					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.V420I(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCAGCGTCTACGCCATCGCCG	0.622													T	50820049	C	T	50820049	2	4	222	1	0	0	0	0	0	0	0	1	14521	547	19	1		1	SLC18A3	10	50820049	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		50820049	84714698	55	15210											
TMEM26	219623	broad.mit.edu	37	chr10	63212688	63212688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgaacttgagggtgagcGcagtctccaggaagagcaag	11	7	15	8	1	1	4	0	3	1	1	2	5	1	5	1	2	3	3	1	2	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:63212688G>A	uc001jlo.2	-	0	521	c.152C>T	c.(151-153)gCg>gTg	p.A51V	TMEM26_uc001jlq.3_Non-coding_Transcript|BC041470_uc001jlr.3_Non-coding_Transcript	NM_178505	NP_848600	Q6ZUK4	TMM26_HUMAN	Homo sapiens transmembrane protein 26 (TMEM26), mRNA.	51						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GAGGGTGAGCGCAGTCTCCAG	0.642													A	63212688	G	A	63212688	3	1	222	1	0	0	0	0	1	0	0	0	16251	1087	38	1	978	1	TMEM26	10	63212688	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12392639	63212688	72322059	56	15211											
ZNF365	22891	broad.mit.edu	37	chr10	64159484	64159484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctcctggggtttggccGcaaaggcaacatcaggccca	9	6	14	12	1	1	0	1	0	0	0	2	1	2	1	3	6	2	4	3	6	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:64159484G>A	uc001jmc.2	+						ZNF365_uc001jly.4_Missense_Mutation_p.R402H|ZNF365_uc001jmb.4_Intron|ZNF365_uc001jlz.4_Missense_Mutation_p.R387H|ZNF365_uc001jma.4_Non-coding_Transcript	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					GGGTTTGGCCGCAAAGGCAAC	0.537													A	64159484	G	A	64159484	3	1	222	1	0	0	0	0	1	0	0	0	17970	1087	38	1	1174	1	ZNF365	10	64159484	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	946796	64159484	71375263	57	15212											
VCL	7414	broad.mit.edu	37	chr10	75849002	75849002	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagctcagcaggtatcTcagggtctggatgtgctcac	10	9	12	10	0	4	1	3	0	2	1	5	2	4	2	0	3	3	4	0	3	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:75849002T>C	uc001jwd.3	+	8	1165	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	VCL_uc009xrr.3_Silent_p.S106S|VCL_uc010qky.1_Silent_p.S264S|VCL_uc001jwe.3_Silent_p.S357S|VCL_uc010qkz.2_Intron	NM_014000	NP_054706	P18206	VINC_HUMAN	Homo sapiens vinculin (VCL), transcript variant 1, mRNA.	357	3 X 112 AA tandem repeats.|N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGCAGGTATCTCAGGGTCTGG	0.488													C	75849002	T	C	75849002	2	2	222	1	0	0	0	0	0	0	0	1	17241	1538	54	3		3	VCL	10	75849002	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	11689518	75849002	59685745	58	15213											
PTEN	5728	broad.mit.edu	37	chr10	89653808	89653808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atccaaacattattgctatgGgatttcctgcagaaagactt	13	13	7	8	0	0	2	0	0	0	2	2	3	2	3	2	1	3	2	2	1	4	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:89653808G>A	uc001kfb.3	+	1	1138	c.106G>A	c.(106-108)Gga>Aga	p.G36R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	36	Phosphatase tensin-type.		G -> E (in glioma).|G -> R (in endometrial hyperplasia).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(8)|p.G36R(8)|p.G36E(4)|p.G36*(2)|p.A34_G36del(2)|p.Y27fs*1(2)|p.M35V(2)|p.Y27_N212>Y(2)|p.G36V(2)|p.M35R(1)|p.G36fs*18(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATTGCTATGGGATTTCCTGC	0.284		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89653808	G	A	89653808	3	1	222	1	0	0	0	0	1	0	0	0	12823	1233	43	2	112	2	PTEN	10	89653808	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	13804806	89653808	45880939	59	15214											
TNKS2	80351	broad.mit.edu	37	chr10	93619322	93619322	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttgctgaaaactcttcCaaaagcaatcaatatgtata	16	14	4	7	0	2	1	1	1	1	0	3	1	3	1	1	0	3	3	1	0	10	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:93619322C>A	uc001khp.3	+	24	3495	c.3198C>A	c.(3196-3198)tcC>tcA	p.S1066S		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	1066	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding	p.S1066F(1)		biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AAAACTCTTCCAAAAGCAATC	0.398													A	93619322	C	A	93619322	2	1	222	1	0	0	0	0	0	0	0	1	16421	581	21	4		4	TNKS2	10	93619322	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	3965514	93619322	41915425	60	15215											
HPSE2	60495	broad.mit.edu	37	chr10	100374687	100374687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaaaattctggtccaCgaggtgattgtatccatggt	9	14	12	6	1	1	1	0	1	1	0	3	2	3	1	2	4	0	2	2	4	3	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:100374687C>T	uc001kpn.2	-	8	1367	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	HPSE2_uc009xwc.2_Missense_Mutation_p.V432M|HPSE2_uc001kpo.2_Missense_Mutation_p.V374M|HPSE2_uc009xwd.2_Missense_Mutation_p.V320M	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	432					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTCTGGTCCACGAGGTGATTG	0.418													T	100374687	C	T	100374687	3	4	222	1	0	0	0	0	1	0	0	0	7400	536	19	1	538	1	HPSE2	10	100374687	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	6755365	100374687	35160060	61	15216											
DNMBP	23268	broad.mit.edu	37	chr10	101716779	101716779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagccccattagggccCgggcttgtcccatggaatat	10	8	11	12	1	0	1	0	0	0	1	1	2	1	2	4	3	1	1	4	3	4	3	rs138795130		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr10:101716779C>T	uc001kqj.2	-	3	544	c.452G>A	c.(451-453)cGg>cAg	p.R151Q	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	151	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CATTAGGGCCCGGGCTTGTCC	0.557													T	101716779	C	T	101716779	3	4	222	1	0	0	0	0	1	0	0	0	4713	652	23	1	4337	1	DNMBP	10	101716779	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1342092	101716779	33817968	62	15217											
OR51F2	119694	broad.mit.edu	37	chr11	4842972	4842972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagatgttctttctacaCggatttactttcatggagtc	8	15	8	10	1	3	1	1	0	2	1	4	3	3	3	1	2	2	1	1	2	2	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:4842972C>T	uc010qyn.2	+	0	357	c.357C>T	c.(355-357)caC>caT	p.H119H		NM_001004753	NP_001004753	Q8NH61	O51F2_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily F, member 2 (OR51F2), mRNA.	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468													T	4842972	C	T	4842972	2	4	222	1	0	0	0	0	0	0	0	1	11173	535	19	1		1	OR51F2	11	4842972	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		4842972	130163544	63	15218											
UEVLD	55293	broad.mit.edu	37	chr11	18587922	18587922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttgcaatataggctagCaagtctacctgccgtgcctc	9	13	8	11	1	1	0	0	0	1	0	2	0	1	0	3	1	5	3	3	1	6	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:18587922C>G	uc001mot.3	-	4	545	c.465G>C	c.(463-465)ttG>ttC	p.L155F	UEVLD_uc001mou.3_Missense_Mutation_p.L155F|UEVLD_uc010rde.2_Missense_Mutation_p.L25F|UEVLD_uc010rdf.2_Missense_Mutation_p.L133F|UEVLD_uc010rdg.2_Missense_Mutation_p.L25F|UEVLD_uc001mov.3_Missense_Mutation_p.L133F|UEVLD_uc010rdh.2_Missense_Mutation_p.L155F	NM_001040697	NP_001035787	Q8IX04	UEVLD_HUMAN	Homo sapiens UEV and lactate/malate dehyrogenase domains (UEVLD), transcript variant 1, mRNA.	155					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TATAGGCTAGCAAGTCTACCT	0.368													G	18587922	C	G	18587922	3	3	222	1	0	0	0	0	1	0	0	0	17035	709	25	4	982	4	UEVLD	11	18587922	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	13744950	18587922	116418594	64	15219											
OR10AG1	282770	broad.mit.edu	37	chr11	55735344	55735344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaacagaaatggcaccGtgataaacaccaccgctact	16	6	6	13	2	1	2	1	1	0	1	1	2	1	2	3	1	3	2	3	1	6	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735344G>A	uc010rit.2	-	0	596	c.596C>T	c.(595-597)aCg>aTg	p.T199M		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T199T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					AAATGGCACCGTGATAAACAC	0.408													A	55735344	G	A	55735344	3	1	222	1	0	0	0	0	1	0	0	0	10973	1145	40	1	312	1	OR10AG1	11	55735344	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	37147422	55735344	79271172	65	15220											
OR10AG1	282770	broad.mit.edu	37	chr11	55735807	55735807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacatgggagtctggagagCggggtgaatttttattagta	11	13	14	3	1	1	2	0	1	1	1	1	4	1	3	0	4	2	1	0	4	5	6	rs139897319	byFrequency	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:55735807C>T	uc010rit.2	-	0	133	c.133G>A	c.(133-135)Gct>Act	p.A45T		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GTCTGGAGAGCGGGGTGAATT	0.348													T	55735807	C	T	55735807	3	4	222	1	0	0	0	0	1	0	0	0	10973	768	27	1	775	1	OR10AG1	11	55735807	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	463	55735807	79270709	66	15221											
SLC22A10	387775	broad.mit.edu	37	chr11	63071595	63071595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaatgcagaccctgcGtgtggctttggcatgtctgg	7	10	14	10	1	1	2	0	0	1	2	1	2	1	2	2	3	2	3	2	3	1	1	rs112720090		TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:63071595G>A	uc009yor.3	+	7	1509	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	SLC22A10_uc010rmo.1_Intron|SLC22A10_uc001nwu.4_Non-coding_Transcript|SLC22A10_uc010rmp.1_Missense_Mutation_p.V228M	NM_001039752	NP_001034841	Q63ZE4	S22AA_HUMAN	Homo sapiens solute carrier family 22, member 10 (SLC22A10), mRNA.	434						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGACCCTGCGTGTGGCTTTG	0.453													A	63071595	G	A	63071595	3	1	222	1	0	0	0	0	1	0	0	0	14535	1145	40	1	1331	1	SLC22A10	11	63071595	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	7335788	63071595	71934921	67	15222											
NAALADL1	10004	broad.mit.edu	37	chr11	64820765	64820765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctggggtccacagcccCgtgcacccagctgtctcggt	5	8	12	16	2	1	0	0	0	1	0	3	0	2	0	4	3	4	3	4	3	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:64820765C>T	uc001ocn.3	-	7	1139	c.1123G>A	c.(1123-1125)Ggg>Agg	p.G375R	NAALADL1_uc010rnw.2_5'UTR	NM_005468	NP_005459	Q9UQQ1	NALDL_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase-like 1 (NAALADL1), mRNA.	375	NAALADase.				proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						TCCACAGCCCCGTGCACCCAG	0.672													T	64820765	C	T	64820765	3	4	222	1	0	0	0	0	1	0	0	0	10205	652	23	1	1143	1	NAALADL1	11	64820765	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1749170	64820765	70185751	68	15223											
PCNXL3	399909	broad.mit.edu	37	chr11	65402835	65402835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacgccctccctgctggcGctgcgccatgtcctggatga	6	8	11	16	3	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr11:65402835G>A	uc001oey.2	+	30	5100	c.5100G>A	c.(5098-5100)gcG>gcA	p.A1700A	PCNXL3_uc001oez.2_Silent_p.A587A|MIR4690_uc021qln.1_5'Flank	NM_032223	NP_115599	Q9H6A9	PCX3_HUMAN	Homo sapiens pecanex-like 3 (Drosophila) (PCNXL3), mRNA.	1700						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCCTGCTGGCGCTGCGCCATG	0.632													A	65402835	G	A	65402835	2	1	222	1	0	0	0	0	0	0	0	1	11669	1074	38	1		1	PCNXL3	11	65402835	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	582070	65402835	69603681	69	15224											
GDF3	9573	broad.mit.edu	37	chr12	7842931	7842931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcaggctgaaaattcaccCctgagtctctatcttctttg	8	15	6	12	0	5	2	2	2	3	0	6	2	5	2	2	1	0	1	2	1	3	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:7842931C>T	uc001qte.3	-	1	674	c.638G>A	c.(637-639)gGg>gAg	p.G213E		NM_020634	NP_065685	Q9NR23	GDF3_HUMAN	Homo sapiens growth differentiation factor 3 (GDF3), mRNA.	213			G -> R (in dbSNP:rs12819884).		eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity	p.G213R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						AAAATTCACCCCTGAGTCTCT	0.493													T	7842931	C	T	7842931	3	4	222	1	0	0	0	0	1	0	0	0	6371	623	22	2	460	2	GDF3	12	7842931	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		7842931	126008964	70	15225											
NELL2	4753	broad.mit.edu	37	chr12	45173691	45173691	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggctaaggagagcttgtgCcacttgtcatcagccaaaat	12	10	10	9	0	2	1	2	0	0	1	2	2	2	1	2	2	3	2	2	2	3	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:45173691C>T	uc010skz.1	-	4	725	c.600G>A	c.(598-600)tgG>tgA	p.W200*	NELL2_uc001rof.3_Nonsense_Mutation_p.W149*|NELL2_uc001rog.2_Nonsense_Mutation_p.W150*|NELL2_uc001roh.2_Nonsense_Mutation_p.W150*|NELL2_uc009zkd.2_Nonsense_Mutation_p.W149*|NELL2_uc010sla.1_Nonsense_Mutation_p.W173*|NELL2_uc001roi.1_Nonsense_Mutation_p.W150*|NELL2_uc010slb.1_Nonsense_Mutation_p.W149*|NELL2_uc001roj.2_Nonsense_Mutation_p.W150*	NM_001145107	NP_006150	Q99435	NELL2_HUMAN	Homo sapiens NEL-like 2 (chicken) (NELL2), transcript variant 1, mRNA.	150	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AGAGCTTGTGCCACTTGTCAT	0.438													T	45173691	C	T	45173691	4	4	222	1	0	0	0	0	0	1	0	0	10410	740	26	2	2068	2	NELL2	12	45173691	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	37330760	45173691	88678204	71	15226											
ARID2	196528	broad.mit.edu	37	chr12	46245949	46245949	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaaatagacatgcaagAtatcaaaagtgatttgagaa	21	8	8	4	0	1	5	1	2	0	4	1	6	1	5	0	0	2	1	0	0	8	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:46245949A>T	uc001ros.1	+	14	4043	c.4043A>T	c.(4042-4044)gAt>gTt	p.D1348V	ARID2_uc001ror.3_Missense_Mutation_p.D1348V|ARID2_uc009zkg.1_Missense_Mutation_p.D804V|ARID2_uc009zkh.1_Missense_Mutation_p.D975V|ARID2_uc001rou.1_Missense_Mutation_p.D682V	NM_152641	NP_689854	Q68CP9	ARID2_HUMAN	Homo sapiens AT rich interactive domain 2 (ARID, RFX-like) (ARID2), mRNA.	1348					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GACATGCAAGATATCAAAAGT	0.358			"N, S, F"		hepatocellular carcinoma								T	46245949	A	T	46245949	3	4	222	1	0	0	0	0	1	0	0	0	918	333	12	5	4101	5	ARID2	12	46245949	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	1072258	46245949	87605946	72	15227											
KRT78	196374	broad.mit.edu	37	chr12	53242331	53242331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgagttgaccctcacCttgtcaatgaaggaagcaaa	12	10	10	9	0	2	3	2	3	0	0	2	4	2	4	2	2	1	3	2	2	4	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:53242331C>T	uc001sbc.1	-	1	448	c.384_splice	c.e1+1	p.K128_splice		NM_173352	NP_775487	Q8N1N4	K2C78_HUMAN	Homo sapiens keratin 78 (KRT78), mRNA.	128	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						TGACCCTCACCTTGTCAATGA	0.537													T	53242331	C	T	53242331	2	4	222	1	0	0	0	0	0	0	0	1	8549	695	24	2		2	KRT78	12	53242331	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	6996382	53242331	80609564	73	15228											
SLC24A6	80024	broad.mit.edu	37	chr12	113770568	113770568	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacctgaagctggaaacTgggggctaatgtgagctcct	10	9	12	10	0	1	2	1	2	0	0	2	3	2	3	2	3	3	3	2	3	3	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:113770568T>A	uc001tvc.3	-	1	326	c.116A>T	c.(115-117)cAg>cTg	p.Q39L	SLC24A6_uc001tvd.1_Missense_Mutation_p.Q39L	NM_024959	NP_079235	Q6J4K2	NCKX6_HUMAN	Homo sapiens solute carrier family 24 (sodium/potassium/calcium exchanger), member 6 (SLC24A6), mRNA.	39					response to stimulus|sodium ion transport	integral to membrane|plasma membrane	calcium:cation antiporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(3)|skin(1)	16						AGCTGGAAACTGGGGGCTAAT	0.557													A	113770568	T	A	113770568	3	1	222	1	0	0	0	0	1	0	0	0	14564	1580	55	5	1698	5	SLC24A6	12	113770568	Missense_Mutation	SNP	T	TCGA-32-1977-01A-01D-1353-08	60528237	113770568	20081327	74	15229											
TBX5	6910	broad.mit.edu	37	chr12	114832695	114832695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtgcatggaatttagaaTaatctaaaaataataaagaa	20	13	6	2	0	1	2	0	0	1	2	1	3	1	3	0	1	1	1	0	1	11	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:114832695T>A	uc001tvo.3	-	5	1009	c.514A>T	c.(514-516)Att>Ttt	p.I172F	TBX5_uc001tvp.3_Missense_Mutation_p.I172F|TBX5_uc001tvq.3_Missense_Mutation_p.I122F|TBX5_uc010syv.2_Missense_Mutation_p.I172F	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	172					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAATTTAGAATAATCTAAAAA	0.368													A	114832695	T	A	114832695	3	1	222	1	0	0	0	0	1	0	0	0	15761	1406	49	5	1125	5	TBX5	12	114832695	Missense_Mutation	SNP	T	TCGA-32-1977-01A-01D-1353-08	1062127	114832695	19019200	75	15230											
TAOK3	51347	broad.mit.edu	37	chr12	118639103	118639103	+	Frame_Shift_Del	DEL	C	C	-																															aaaataaattgaacctacttCctcatcctcctgtgactcat																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr12:118639103delC	uc001twx.3	-	11	1280	c.985delG	c.(985-987)gaafs	p.E329fs	TAOK3_uc001tww.3_Frame_Shift_Del_p.E159fs|TAOK3_uc001twy.4_Frame_Shift_Del_p.E329fs	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	329					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACCTACTTCCTCATCCTCC	0.368													-	118639103	C	-	118639103	7	5	222	1	0	1	0	1	0	0	0	0	15646	864	30	0	1751	0	TAOK3	12	118639103	Frame_Shift_Del	DEL	C	TCGA-32-1977-01A-01D-1353-08	3806408	118639103	15212792	76	15231											
UCHL3	7347	broad.mit.edu	37	chr13	76134909	76134909	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttaaacaattaggtctAcatcctaactggcaattcgt	12	15	5	9	1	2	0	0	0	2	0	4	0	3	0	1	2	3	1	1	2	7	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr13:76134909A>T	uc001vjq.3	+	2	105	c.75A>T	c.(73-75)ctA>ctT	p.L25L		NM_006002	NP_005993	P15374	UCHL3_HUMAN	Homo sapiens ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase) (UCHL3), mRNA.	25					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AATTAGGTCTACATCCTAACT	0.333													T	76134909	A	T	76134909	2	4	222	1	0	0	0	0	0	0	0	1	17023	378	14	5		5	UCHL3	13	76134909	Silent	SNP	A	TCGA-32-1977-01A-01D-1353-08		76134909	39034969	77	15232											
POTEG	404785	broad.mit.edu	37	chr14	19553823	19553823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgaggtaccacgtccGtcgagaagatctggacaagc	11	5	14	11	4	1	2	0	0	1	2	3	6	2	4	3	3	3	1	3	3	3	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:19553823G>A	uc001vuz.1	+	0	459	c.407G>A	c.(406-408)cGt>cAt	p.R136H	POTEG_uc001vva.1_Non-coding_Transcript|POTEG_uc010ahc.1_Non-coding_Transcript	NM_001005356	NP_001005356	Q6S5H5	POTEG_HUMAN	Homo sapiens POTE ankyrin domain family, member G (POTEG), transcript variant 1, mRNA.	136								p.R136H(2)|p.V135I(1)		cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TACCACGTCCGTCGAGAAGAT	0.577													A	19553823	G	A	19553823	3	1	222	1	0	0	0	0	1	0	0	0	12343	1145	40	1	409	1	POTEG	14	19553823	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		19553823	87795717	78	15233											
OXA1L	5018	broad.mit.edu	37	chr14	23239044	23239044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcctctcatcgtgacgGgccagcgagaggcagccagg	7	9	13	12	3	1	2	1	1	1	1	4	3	2	2	3	3	2	1	3	3	0	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:23239044G>A	uc001wgn.2	+	3	664	c.664G>A	c.(664-666)Ggc>Agc	p.G222S	OXA1L_uc001wgp.2_Missense_Mutation_p.G146S	NM_005015	NP_005006	Q15070	OXA1L_HUMAN	Homo sapiens oxidase (cytochrome c) assembly 1-like (OXA1L), nuclear gene encoding mitochondrial protein, mRNA.	162					aerobic respiration|mitochondrial proton-transporting ATP synthase complex assembly|mitochondrial respiratory chain complex I assembly|negative regulation of ATPase activity|negative regulation of oxidoreductase activity|protein insertion into membrane|protein tetramerization	integral to mitochondrial membrane|mitochondrial respiratory chain|protein complex	protein homodimerization activity|ribosome binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|skin(2)	19	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.0096)		CATCGTGACGGGCCAGCGAGA	0.488													A	23239044	G	A	23239044	3	1	222	1	0	0	0	0	1	0	0	0	11404	1232	43	2	678	2	OXA1L	14	23239044	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	3685221	23239044	84110496	79	15234											
PCK2	5106	broad.mit.edu	37	chr14	24567814	24567814	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacccgactggggacaccTgtgcttcaggccctgggaga	8	7	14	12	1	1	2	1	1	0	1	1	5	1	3	3	4	1	1	3	4	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:24567814T>C	uc001wlt.3	+	3	723	c.591T>C	c.(589-591)ccT>ccC	p.P197P	NRL_uc001wlq.3_Intron|PCK2_uc001wls.3_Silent_p.P197P|PCK2_uc010tnw.2_Silent_p.P63P|PCK2_uc010ald.2_Silent_p.P49P|PCK2_uc010ale.2_Silent_p.P63P|PCK2_uc010tnx.2_Silent_p.P63P|PCK2_uc001wlu.4_Silent_p.P63P	NM_004563	NP_004554	Q16822	PCKGM_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 2 (mitochondrial) (PCK2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		TGGGGACACCTGTGCTTCAGG	0.617													C	24567814	T	C	24567814	2	2	222	1	0	0	0	0	0	0	0	1	11658	1567	55	3		3	PCK2	14	24567814	Silent	SNP	T	TCGA-32-1977-01A-01D-1353-08	1328770	24567814	82781726	80	15235											
FOXG1	2290	broad.mit.edu	37	chr14	29237322	29237322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggcgccgctccaccacCtcgcgggccaagctggcctt	4	6	12	19	5	0	0	0	0	0	0	2	0	1	0	6	3	2	2	6	3	1	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:29237322C>T	uc001wqe.3	+	0	1036	c.837C>T	c.(835-837)acC>acT	p.T279T		NM_005249	NP_005240	P55316	FOXG1_HUMAN	Homo sapiens forkhead box G1 (FOXG1), mRNA.	279					axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.T279N(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		GCTCCACCACCTCGCGGGCCA	0.701													T	29237322	C	T	29237322	2	4	222	1	0	0	0	0	0	0	0	1	6058	668	24	2		2	FOXG1	14	29237322	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	4669508	29237322	78112218	81	15236											
TDRD9	122402	broad.mit.edu	37	chr14	104488645	104488645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggtgcaaggcatgaacGtctcaaagctcaggaacaca	15	5	12	9	1	2	1	2	1	1	0	3	3	2	3	0	4	4	3	0	4	5	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:104488645G>A	uc001yom.4	+	23	2614	c.2584G>A	c.(2584-2586)Gtc>Atc	p.V862I	TDRD9_uc001yon.4_Missense_Mutation_p.V600I	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	862					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				AGGCATGAACGTCTCAAAGCT	0.448													A	104488645	G	A	104488645	3	1	222	1	0	0	0	0	1	0	0	0	15836	1145	40	1	2678	1	TDRD9	14	104488645	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	75251323	104488645	2860895	82	15237											
PLD4	122618	broad.mit.edu	37	chr14	105397140	105397140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcccaagacctggagaagaCcttccagacctactgggtac	11	6	11	13	0	0	4	0	0	0	4	1	5	1	4	5	3	2	1	5	3	4	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105397140C>T	uc010tyl.1	+	6	958	c.800C>T	c.(799-801)aCc>aTc	p.T267I	PLD4_uc001ypu.1_Missense_Mutation_p.T260I	NM_138790	NP_620145	Q96BZ4	PLD4_HUMAN	Homo sapiens phospholipase D family, member 4 (PLD4), mRNA.	260					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CTGGAGAAGACCTTCCAGACC	0.572													T	105397140	C	T	105397140	3	4	222	1	0	0	0	0	1	0	0	0	12125	507	18	2	801	2	PLD4	14	105397140	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	908495	105397140	1952400	83	15238											
GPR132	29933	broad.mit.edu	37	chr14	105518239	105518239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggcagagcaggtagaCggccagcacgttgccctgca	9	5	14	13	2	0	2	0	0	0	2	0	2	0	2	3	3	5	6	3	3	1	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr14:105518239C>T	uc001yqd.3	-	3	1134	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	GPR132_uc001yqc.3_5'UTR|GPR132_uc001yqe.3_Missense_Mutation_p.V70I	NM_013345	NP_037477	Q9UNW8	GP132_HUMAN	Homo sapiens G protein-coupled receptor 132 (GPR132), mRNA.	79					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCAGGTAGACGGCCAGCACG	0.657													T	105518239	C	T	105518239	3	4	222	1	0	0	0	0	1	0	0	0	6696	536	19	1	911	1	GPR132	14	105518239	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	121099	105518239	1831301	84	15239											
PLA2G4F	255189	broad.mit.edu	37	chr15	42442026	42442026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaggtcaaagccaaggCgtaggtctaggtccccggag	11	5	15	10	2	2	1	1	0	1	1	3	3	3	2	3	5	1	1	3	5	4	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:42442026C>T	uc001zoz.3	-	10	1036	c.944G>A	c.(943-945)cGc>cAc	p.R315H	PLA2G4F_uc001zoy.3_5'Flank|PLA2G4F_uc001zpa.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcr.3_Missense_Mutation_p.R66H|PLA2G4F_uc010bcs.3_Missense_Mutation_p.R102H	NM_213600	NP_998765	Q68DD2	PA24F_HUMAN	Homo sapiens phospholipase A2, group IVF (PLA2G4F), transcript variant 1, mRNA.	315	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		AAAGCCAAGGCGTAGGTCTAG	0.632													T	42442026	C	T	42442026	3	4	222	1	0	0	0	0	1	0	0	0	12083	768	27	1	1645	1	PLA2G4F	15	42442026	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08		42442026	60089366	85	15240											
TLN2	83660	broad.mit.edu	37	chr15	63055766	63055766	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactattccttccagggacAaggcccctggacagagggag	10	6	13	12	0	0	1	0	0	0	1	2	4	2	4	4	4	0	1	4	4	2	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:63055766A>C	uc002alb.4	+	36	4966	c.4966A>C	c.(4966-4968)Aag>Cag	p.K1656Q	TLN2_uc002alc.4_Missense_Mutation_p.K49Q|TLN2_uc002ald.3_Missense_Mutation_p.K49Q	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN	Homo sapiens talin 2 (TLN2), mRNA.	1656					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TTCCAGGGACAAGGCCCCTGG	0.617													C	63055766	A	C	63055766	3	2	222	1	0	0	0	0	1	0	0	0	16048	131	5	5	5112	5	TLN2	15	63055766	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	20613740	63055766	39475626	86	15241											
C15orf39	56905	broad.mit.edu	37	chr15	75503308	75503308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgccagcccacctGgccccacactgaaggcccgc	8	4	9	20	1	0	1	0	1	0	0	0	1	0	1	7	2	3	0	7	2	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:75503308G>A	uc002azp.4	+	2	3315	c.2995G>A	c.(2995-2997)Ggc>Agc	p.G999S	C15orf39_uc002azq.4_Missense_Mutation_p.G999S|C15orf39_uc002azr.4_3'UTR	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	999										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGCCCACCTGGCCCCACACT	0.662													A	75503308	G	A	75503308	3	1	222	1	0	0	0	0	1	0	0	0	1806	1348	47	2	3001	2	C15orf39	15	75503308	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	12447542	75503308	27028084	87	15242											
C15orf27	123591	broad.mit.edu	37	chr15	76496348	76496348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccttctcccccgccgctgCcatcccagcagcaggtggag	5	6	11	19	2	1	0	0	0	1	0	3	1	2	1	6	2	3	3	6	2	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr15:76496348C>T	uc002bbq.3	+	10	1443	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S	C15orf27_uc010bkp.3_Missense_Mutation_p.P246S|C15orf27_uc002bbr.3_Missense_Mutation_p.P246S|C15orf27_uc002bbs.3_Missense_Mutation_p.P108S	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	430						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCGCCGCTGCCATCCCAGCA	0.701													T	76496348	C	T	76496348	3	4	222	1	0	0	0	0	1	0	0	0	1801	739	26	2	1326	2	C15orf27	15	76496348	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	993040	76496348	26035044	88	15243											
DECR2	26063	broad.mit.edu	37	chr16	460737	460737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccctggggaaccGggggcaggcgctccaggtgc	6	4	16	15	2	0	0	0	0	0	0	1	1	1	1	4	6	3	2	4	6	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:460737G>A	uc002chb.3	+	5	615	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	DECR2_uc002chc.3_Missense_Mutation_p.R86Q|DECR2_uc002chd.3_Missense_Mutation_p.R86Q|DECR2_uc002che.1_Non-coding_Transcript	NM_020664	NP_065715	Q9NUI1	DECR2_HUMAN	Homo sapiens 2,4-dienoyl CoA reductase 2, peroxisomal (DECR2), mRNA.	170						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				CTGGGGAACCGGGGGCAGGCG	0.701													A	460737	G	A	460737	3	1	222	1	0	0	0	0	1	0	0	0	4417	1116	39	1	531	1	DECR2	16	460737	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		460737	89894016	89	15244											
IGFALS	3483	broad.mit.edu	37	chr16	1841525	1841525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggctggcgatggcgttgtgGgacagccgcagcacacgcag	8	5	17	11	4	0	0	0	0	0	0	0	2	0	1	1	4	2	5	1	4	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:1841525G>A	uc010uvn.2	-	1	1089	c.1008C>T	c.(1006-1008)tcC>tcT	p.S336S	IGFALS_uc002cmy.3_Silent_p.S298S|IGFALS_uc010uvo.2_5'UTR	NM_001146006	NP_001139478	P35858	ALS_HUMAN	Homo sapiens insulin-like growth factor binding protein, acid labile subunit (IGFALS), transcript variant 1, mRNA.	298					cell adhesion|signal transduction	soluble fraction	insulin-like growth factor binding			endometrium(2)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	8						TGGCGTTGTGGGACAGCCGCA	0.687													A	1841525	G	A	1841525	2	1	222	1	0	0	0	0	0	0	0	1	7635	1219	43	2		2	IGFALS	16	1841525	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	1380788	1841525	88513228	90	15245											
PRSS22	64063	broad.mit.edu	37	chr16	2903295	2903295	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccagcagccaggcgccGtccacctggcacatgagggg	7	3	15	16	3	0	1	0	1	0	0	1	1	1	1	6	5	2	2	6	5	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:2903295G>A	uc002cry.1	-	5	819	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_022119	NP_071402	Q9GZN4	BSSP4_HUMAN	Homo sapiens protease, serine, 22 (PRSS22), mRNA.	251	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GCCAGGCGCCGTCCACCTGGC	0.711													A	2903295	G	A	2903295	2	1	222	1	0	0	0	0	0	0	0	1	12704	1136	40	1		1	PRSS22	16	2903295	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	1061770	2903295	87451458	91	15246											
DNAH3	55567	broad.mit.edu	37	chr16	21045351	21045351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataagcagaggtcttgccGcccatggggtctcctacaat	9	11	10	11	1	2	1	0	0	2	1	3	1	2	1	3	3	3	1	3	3	4	4	rs143127393	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:21045351G>A	uc010vbe.2	-	35	5142	c.5142C>T	c.(5140-5142)ggC>ggT	p.G1714G		NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	1714	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		AGGTCTTGCCGCCCATGGGGT	0.498													A	21045351	G	A	21045351	2	1	222	1	0	0	0	0	0	0	0	1	4642	1074	38	1		1	DNAH3	16	21045351	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	18142056	21045351	69309402	92	15247											
ITGAD	3681	broad.mit.edu	37	chr16	31427865	31427865	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagctccctggagctcaaCgtgattgtgactgtgtggaa	8	10	15	8	1	1	2	1	2	0	0	2	5	2	5	1	3	3	2	1	3	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:31427865C>T	uc010cap.1	+	19	2449	c.2400C>T	c.(2398-2400)aaC>aaT	p.N800N	ITGAD_uc002ebv.1_Silent_p.N799N	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	799					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TGGAGCTCAACGTGATTGTGA	0.617													T	31427865	C	T	31427865	2	4	222	1	0	0	0	0	0	0	0	1	7942	535	19	1		1	ITGAD	16	31427865	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08	10382514	31427865	58926888	93	15248											
ZFHX3	463	broad.mit.edu	37	chr16	72993903	72993903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggctgtccaagggccCgtggctctcgcctgtggact	4	9	13	15	2	2	0	1	0	1	0	4	1	3	1	4	4	0	2	4	4	1	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr16:72993903C>A	uc002fck.3	-	1	815	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	ZFHX3_uc002fcl.3_Intron	NM_006885	NP_008816	Q15911	ZFHX3_HUMAN	Homo sapiens zinc finger homeobox 3 (ZFHX3), transcript variant A, mRNA.	48					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TCCAAGGGCCCGTGGCTCTCG	0.667													A	72993903	C	A	72993903	3	1	222	1	0	0	0	0	1	0	0	0	17735	652	23	4	11005	4	ZFHX3	16	72993903	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	41566038	72993903	17360850	94	15249											
USP22	23326	broad.mit.edu	37	chr17	20924447	20924447	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcattttccaagcttttcGctgctcctccttggcgatta	5	17	7	12	2	0	0	0	0	0	0	4	1	3	0	3	1	3	4	3	1	2	7			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:20924447G>T	uc002gym.4	-	2	601	c.397C>A	c.(397-399)Cga>Aga	p.R133R	USP22_uc002gyn.4_Silent_p.R121R|USP22_uc002gyl.4_Silent_p.R28R	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	133					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						CAAGCTTTTCGCTGCTCCTCC	0.478													T	20924447	G	T	20924447	2	4	222	1	0	0	0	0	0	0	0	1	17156	1095	38	4		4	USP22	17	20924447	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		20924447	60270763	95	15250											
KIF2B	84643	broad.mit.edu	37	chr17	51901070	51901070	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcggcctctcaaccagCgagagacaaccttaaaggac	14	4	11	12	2	1	1	1	0	1	1	2	5	1	3	3	3	4	0	3	3	5	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:51901070C>T	uc002iua.2	+	0	832	c.676C>T	c.(676-678)Cga>Tga	p.R226*	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	226	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TCTCAACCAGCGAGAGACAAC	0.557													T	51901070	C	T	51901070	4	4	222	1	0	0	0	0	0	1	0	0	8356	760	27	1	678	1	KIF2B	17	51901070	Nonsense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	30976623	51901070	29294140	96	15251											
MARCH10	162333	broad.mit.edu	37	chr17	60879073	60879073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatcgctgaagaacttctgCctgtcccttgcgtcatgcaa	9	11	8	13	2	2	2	1	1	1	1	4	2	3	2	2	0	4	2	2	0	3	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:60879073C>A	uc010dds.3	-	1	309	c.24G>T	c.(22-24)agG>agT	p.R8S	MARCH10_uc010ddr.3_Missense_Mutation_p.R8S|MARCH10_uc002jag.4_Missense_Mutation_p.R8S|MARCH10_uc002jah.2_Missense_Mutation_p.R8S	NM_152598	NP_689811	Q8NA82	MARHA_HUMAN	Homo sapiens membrane-associated ring finger (C3HC4) 10 (MARCH10), transcript variant 1, mRNA.	8							ligase activity|zinc ion binding	p.R8R(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						AGAACTTCTGCCTGTCCCTTG	0.453													A	60879073	C	A	60879073	3	1	222	1	0	0	0	0	1	0	0	0	9374	738	26	4	2442	4	MARCH10	17	60879073	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	8978003	60879073	20316137	97	15252											
LRRC37A3	374819	broad.mit.edu	37	chr17	62856062	62856062	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttagtgttttccataaaaAcattttcttcaaaggcattt	12	18	5	6	0	2	0	1	0	1	0	3	0	3	0	1	1	1	3	1	1	5	8	rs139735390	by1000genomes	TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:62856062A>C	uc002jey.2	-	10	4818	c.4202T>G	c.(4201-4203)gTt>gGt	p.V1401G	LRRC37A3_uc010wqg.1_Missense_Mutation_p.V519G|LRRC37A3_uc002jex.1_Missense_Mutation_p.V378G|LRRC37A3_uc010wqf.1_Missense_Mutation_p.V439G|LRRC37A3_uc010dek.1_Missense_Mutation_p.V407G|DQ578599_uc021ubv.1_5'Flank	NM_199340	NP_955372	O60309	L37A3_HUMAN	Homo sapiens leucine rich repeat containing 37, member A3 (LRRC37A3), mRNA.	1401						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCATAAAAACATTTTCTTC	0.368													C	62856062	A	C	62856062	3	2	222	1	0	0	0	0	1	0	0	0	9063	43	2	5	718	5	LRRC37A3	17	62856062	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	1976989	62856062	18339148	98	15253											
HELZ	9931	broad.mit.edu	37	chr17	65119252	65119252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctctaataggattgccaAtaagtacagaaggattgggc	14	10	11	6	0	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	6	6			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:65119252A>G	uc010wqk.2	-	25	3654	c.3467T>C	c.(3466-3468)aTt>aCt	p.I1156T	HELZ_uc002jfv.4_Non-coding_Transcript|HELZ_uc002jfx.4_Missense_Mutation_p.I1155T	NM_014877	NP_055692			Homo sapiens helicase with zinc finger (HELZ), mRNA.											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGGATTGCCAATAAGTACAGA	0.388													G	65119252	A	G	65119252	3	3	222	1	0	0	0	0	1	0	0	0	7104	101	4	3	2396	3	HELZ	17	65119252	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	2263190	65119252	16075958	99	15254											
KIF19	124602	broad.mit.edu	37	chr17	72345437	72345437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgatgagcagactgggCggggccaggcccggggccgg	7	4	20	10	3	0	4	0	2	0	2	0	4	0	4	3	7	1	1	3	7	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:72345437C>T	uc002jkm.4	+	9	1300	c.1162C>T	c.(1162-1164)Cgg>Tgg	p.R388W	KIF19_uc002jkj.2_Missense_Mutation_p.R388W|KIF19_uc002jkk.2_Missense_Mutation_p.R346W|KIF19_uc002jkl.2_Missense_Mutation_p.R346W	NM_153209	NP_694941	Q2TAC6	KIF19_HUMAN	Homo sapiens kinesin family member 19 (KIF19), mRNA.	388					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R388Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCAGACTGGGCGGGGCCAGGC	0.662													T	72345437	C	T	72345437	3	4	222	1	0	0	0	0	1	0	0	0	8340	759	27	1	1200	1	KIF19	17	72345437	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	7226185	72345437	8849773	100	15255											
CBX2	84733	broad.mit.edu	37	chr17	77758656	77758656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagctcggactccgaccccGactccgcctcgccgcccagc	5	4	10	22	6	0	0	0	0	0	0	4	3	2	1	7	1	2	2	7	1	0	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:77758656G>A	uc002jxc.3	+	4	1472	c.1414G>A	c.(1414-1416)Gac>Aac	p.D472N		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	472					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCCGACCCCGACTCCGCCTC	0.662													A	77758656	G	A	77758656	3	1	222	1	0	0	0	0	1	0	0	0	2744	1058	37	1	1780	1	CBX2	17	77758656	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	5413219	77758656	3436554	101	15256											
FOXK2	3607	broad.mit.edu	37	chr17	80521333	80521333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagtctccagtgaaggccGtacagccacacatctcgccc	9	7	9	16	2	2	2	0	2	2	0	4	2	2	2	4	1	2	1	4	1	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr17:80521333G>A	uc002kfn.3	+	1	694	c.523G>A	c.(523-525)Gta>Ata	p.V175I	FOXK2_uc002kfm.1_Missense_Mutation_p.V175I|FOXK2_uc010diu.3_Missense_Mutation_p.V175I	NM_004514	NP_004505	Q01167	FOXK2_HUMAN	Homo sapiens forkhead box K2 (FOXK2), mRNA.	175					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			AGTGAAGGCCGTACAGCCACA	0.582													A	80521333	G	A	80521333	3	1	222	1	0	0	0	0	1	0	0	0	6066	1145	40	1	529	1	FOXK2	17	80521333	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	2762677	80521333	673877	102	15257											
CCDC102B	79839	broad.mit.edu	37	chr18	66504203	66504204	+	In_Frame_Ins	INS	-	-	TAT																															tataacaccaacaaatgggaINStatttgtgaagaacttcgcc																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr18:66504203_66504204insTAT	uc002lkk.2	+	3	426_427	c.203_204insTAT	c.(202-204)gat>gaTATt	p.69_70insI	CCDC102B_uc002lki.2_In_Frame_Ins_p.69_70insI|CCDC102B_uc002lkj.1_In_Frame_Ins_p.69_70insI	NM_001093729	NP_079057	Q68D86	C102B_HUMAN	Homo sapiens coiled-coil domain containing 102B (CCDC102B), transcript variant 1, mRNA.	69										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				AACAAATGGGATATTTGTGAAG	0.505													TAT	66504204	-	TAT	66504203	7	5	222	1	0	1	1	0	0	0	0	0	2763	333	12	0	205	0	CCDC102B	18	66504203	In_Frame_Ins	INS	-	TCGA-32-1977-01A-01D-1353-08		66504203	11573045	103	15258											
LRRC8E	80131	broad.mit.edu	37	chr19	7963647	7963647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggggatccctgagcaGattggggccctgcaggaggt	6	7	17	11	1	0	2	0	1	0	1	2	4	1	4	3	6	2	2	3	6	0	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:7963647G>T	uc002mir.3	+	2	341	c.240G>T	c.(238-240)caG>caT	p.Q80H		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	80						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TCCCTGAGCAGATTGGGGCCC	0.522													T	7963647	G	T	7963647	3	4	222	1	0	0	0	0	1	0	0	0	9095	933	33	4	246	4	LRRC8E	19	7963647	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		7963647	51165336	104	15259											
TNPO2	30000	broad.mit.edu	37	chr19	12817567	12817567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggcactggatcaggtgcGggatcagctcaggcaggtag	10	6	16	9	1	3	0	3	0	0	0	3	2	3	2	0	6	2	4	0	6	1	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:12817567G>T	uc002mup.3	-	11	2051	c.1589C>A	c.(1588-1590)cCg>cAg	p.P530Q	TNPO2_uc002muq.3_Missense_Mutation_p.P438Q|TNPO2_uc002muo.3_Missense_Mutation_p.P438Q|TNPO2_uc002mur.3_Missense_Mutation_p.P438Q|SNORD41_uc002mut.1_5'Flank	NM_013433	NP_038461	O14787	TNPO2_HUMAN	Homo sapiens transportin 2 (TNPO2), transcript variant 2, mRNA.	438					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GATCAGGTGCGGGATCAGCTC	0.632													T	12817567	G	T	12817567	3	4	222	1	0	0	0	0	1	0	0	0	16436	1116	39	4	1428	4	TNPO2	19	12817567	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	4853920	12817567	46311416	105	15260											
ZNF676	163223	broad.mit.edu	37	chr19	22363820	22363820	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggattgaggatcgattaaaAgctttgccacattcttcaca	13	12	8	8	1	2	1	1	1	1	0	3	4	2	3	1	2	2	1	1	2	2	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:22363820A>T	uc002nqs.1	-	2	1017	c.699T>A	c.(697-699)gcT>gcA	p.A233A		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCGATTAAAAGCTTTGCCAC	0.358													T	22363820	A	T	22363820	2	4	222	1	0	0	0	0	0	0	0	1	18184	59	3	5		5	ZNF676	19	22363820	Silent	SNP	A	TCGA-32-1977-01A-01D-1353-08	9546253	22363820	36765163	106	15261											
RYR1	6261	broad.mit.edu	37	chr19	38983254	38983254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaacctgaggaggagcgGtcagcagaggagagcaaacc	15	2	16	8	1	1	4	1	1	0	3	1	8	1	6	2	4	5	2	2	4	2	0			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:38983254G>A	uc002oit.3	+	37	6382	c.6252G>A	c.(6250-6252)cgG>cgA	p.R2084R	RYR1_uc002oiu.3_Silent_p.R2084R	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2084	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.R2084Q(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AGGAGGAGCGGTCAGCAGAGG	0.627													A	38983254	G	A	38983254	2	1	222	1	0	0	0	0	0	0	0	1	13859	1248	44	2		2	RYR1	19	38983254	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	16619434	38983254	20145729	107	15262											
TIMM50	92609	broad.mit.edu	37	chr19	39972604	39972604	+	Frame_Shift_Del	DEL	A	A	-																															cagagggtcccagctatgccAaaaaagttgcgctctggctt																										TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:39972604delA	uc002olu.1	+	1	632	c.499delA	c.(499-501)aaafs	p.K167fs	TIMM50_uc002olt.1_Non-coding_Transcript	NM_001001563	NP_001001563	Q3ZCQ8	TIM50_HUMAN	Homo sapiens translocase of inner mitochondrial membrane 50 homolog (S. cerevisiae) (TIMM50), nuclear gene encoding mitochondrial protein, mRNA.	64	FCP1 homology.				mitochondrial membrane organization|protein transport|release of cytochrome c from mitochondria|transmembrane transport	integral to membrane|mitochondrial inner membrane presequence translocase complex|nuclear speck	interleukin-2 receptor binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|ribonucleoprotein binding|RNA binding			NS(1)|endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)	14	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAGCTATGCCAAAAAAGTTGC	0.607													-	39972604	A	-	39972604	7	5	222	1	0	1	0	1	0	0	0	0	16013	131	5	0	505	0	TIMM50	19	39972604	Frame_Shift_Del	DEL	A	TCGA-32-1977-01A-01D-1353-08	989350	39972604	19156379	108	15263											
ZNF284	342909	broad.mit.edu	37	chr19	44589943	44589943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtcttgccagcaaatctgGgaacaaactgcaagtgagtt	12	10	11	8	0	2	1	0	1	2	0	2	2	2	2	1	2	5	3	1	2	4	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:44589943G>A	uc002oyg.1	+	4	528	c.312G>A	c.(310-312)tgG>tgA	p.W104*	ZNF284_uc010ejd.2_Non-coding_Transcript	NM_001037813	NP_001032902	Q2VY69	ZN284_HUMAN	Homo sapiens zinc finger protein 284 (ZNF284), mRNA.	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|kidney(2)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0435)				AGCAAATCTGGGAACAAACTG	0.468													A	44589943	G	A	44589943	4	1	222	1	0	0	0	0	0	1	0	0	17922	1241	43	2	326	2	ZNF284	19	44589943	Nonsense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08	4617339	44589943	14539040	109	15264											
ZNF528	84436	broad.mit.edu	37	chr19	52918709	52918709	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagagcatctgcaagccttActaaccaagtaatccataac	15	10	5	11	0	1	1	0	0	1	1	2	1	2	1	3	0	6	3	3	0	7	5			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:52918709A>C	uc002pzh.3	+	6	1030	c.604A>C	c.(604-606)Act>Cct	p.T202P	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TGCAAGCCTTACTAACCAAGT	0.398													C	52918709	A	C	52918709	3	2	222	1	0	0	0	0	1	0	0	0	18070	391	14	5	618	5	ZNF528	19	52918709	Missense_Mutation	SNP	A	TCGA-32-1977-01A-01D-1353-08	8328766	52918709	6210274	110	15265											
NLRP12	91662	broad.mit.edu	37	chr19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccctaggcgcgcattgCggtcttccatgagccggaat	7	10	11	13	4	1	1	0	1	1	0	3	2	3	2	4	3	2	1	4	3	2	4			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:54314485C>T	uc002qcj.4	-	2	648	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.R143H|NLRP12_uc002qci.4_Missense_Mutation_p.R143H|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.R143H	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567													T	54314485	C	T	54314485	3	4	222	1	0	0	0	0	1	0	0	0	10550	768	27	1	2885	1	NLRP12	19	54314485	Missense_Mutation	SNP	C	TCGA-32-1977-01A-01D-1353-08	1395776	54314485	4814498	111	15266											
ZNF416	55659	broad.mit.edu	37	chr19	58084494	58084494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagggtggactctttgcaGctgaacaagggagcactcac	10	8	12	11	0	2	1	1	1	1	0	3	3	3	3	1	3	4	3	1	3	2	1			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr19:58084494G>A	uc002qpf.3	-	3	949	c.778C>T	c.(778-780)Ctg>Ttg	p.L260L		NM_017879	NP_060349	Q9BWM5	ZN416_HUMAN	Homo sapiens zinc finger protein 416 (ZNF416), mRNA.	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		ACTCTTTGCAGCTGAACAAGG	0.458													A	58084494	G	A	58084494	2	1	222	1	0	0	0	0	0	0	0	1	17994	962	34	2		2	ZNF416	19	58084494	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08	3770009	58084494	1044489	112	15267											
TRPM2	7226	broad.mit.edu	37	chr21	45786765	45786765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacttcaacatgaagccGcggctgaagagcattttccg	13	8	10	10	3	1	4	1	2	0	2	2	4	2	4	2	1	4	2	2	1	5	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr21:45786765G>A	uc010gpt.1	+	3	652	c.552G>A	c.(550-552)ccG>ccA	p.P184P	TRPM2_uc002zet.1_Silent_p.P184P|TRPM2_uc002zeu.1_Silent_p.P184P|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Silent_p.P184P|TRPM2_uc002zex.1_5'Flank	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	184						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						ACATGAAGCCGCGGCTGAAGA	0.637													A	45786765	G	A	45786765	2	1	222	1	0	0	0	0	0	0	0	1	16687	1074	38	1		1	TRPM2	21	45786765	Silent	SNP	G	TCGA-32-1977-01A-01D-1353-08		45786765	2343130	113	15268											
LZTR1	8216	broad.mit.edu	37	chr22	21343151	21343151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatctttgctggctatgacGgcaacgccaggtgggtggtg	6	10	17	8	2	1	1	0	1	1	0	1	2	1	2	1	6	2	3	1	6	2	2			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chr22:21343151G>A	uc002zto.3	+	5	686	c.583G>A	c.(583-585)Ggc>Agc	p.G195S	LZTR1_uc002ztn.3_Missense_Mutation_p.G154S|LZTR1_uc011ahy.2_Missense_Mutation_p.G176S|LZTR1_uc010gsr.1_Missense_Mutation_p.G66S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	195					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	p.G195C(2)		breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TGGCTATGACGGCAACGCCAG	0.637													A	21343151	G	A	21343151	3	1	222	1	0	0	0	0	1	0	0	0	9208	1116	39	1	605	1	LZTR1	22	21343151	Missense_Mutation	SNP	G	TCGA-32-1977-01A-01D-1353-08		21343151	29961415	114	15269											
SYTL5	94122	broad.mit.edu	37	chrX	37955451	37955451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcagaggatactgtaagCataagaagcaagtctgtccc	14	8	10	9	0	2	2	1	0	1	2	3	4	3	3	1	1	3	3	1	1	5	3			TCGA-32-1977-01A-01D-1353-08	TCGA-32-1977-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	18b48e97-cf39-48e8-8d60-d19de637ff5d	36421180-ef2e-4177-9a7a-ae779a45fc6a	g.chrX:37955451C>T	uc004ddx.3	+	7	1382	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	SYTL5_uc004ddu.3_Silent_p.S342S|SYTL5_uc004ddv.3_Silent_p.S342S	NM_001163334	NP_001156806	Q8TDW5	SYTL5_HUMAN	Homo sapiens synaptotagmin-like 5 (SYTL5), transcript variant 3, mRNA.	342					intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						ATACTGTAAGCATAAGAAGCA	0.413													T	37955451	C	T	37955451	2	4	222	1	0	0	0	0	0	0	0	1	15583	709	25	2		2	SYTL5	23	37955451	Silent	SNP	C	TCGA-32-1977-01A-01D-1353-08		37955451	117315109	115	15270											
GRHL3	57822	broad.mit.edu	37	chr1	24669384	24669384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccttctcccatcaggcGtcaagggctgcctgctgtcg	4	11	11	15	2	3	0	2	0	1	0	6	0	4	0	3	2	2	3	3	2	1	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:24669384G>A	uc021oiw.1	+	10	1518	c.1288G>A	c.(1288-1290)Gtc>Atc	p.V430I	GRHL3_uc001bix.3_Missense_Mutation_p.V430I|GRHL3_uc021oix.1_Missense_Mutation_p.V384I|GRHL3_uc001biy.3_Missense_Mutation_p.V435I|GRHL3_uc001biz.3_Missense_Mutation_p.V337I	NM_198174	NP_937817	Q8TE85	GRHL3_HUMAN	Homo sapiens grainyhead-like 3 (Drosophila) (GRHL3), transcript variant 3, mRNA.	430					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCCATCAGGCGTCAAGGGCTG	0.632													A	24669384	G	A	24669384	3	1	223	1	0	0	0	0	1	0	0	0	6820	1145	40	1	1366	1	GRHL3	1	24669384	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		24669384	224581237	1	15271											
YTHDF2	51441	broad.mit.edu	37	chr1	29069013	29069013	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagctgcttggtctacGgggggtgacacagccatgcc	7	8	16	10	1	1	2	0	2	1	0	1	2	1	2	2	5	5	2	2	5	2	2	rs11553689		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:29069013G>A	uc021okf.1	+	4	494	c.231G>A	c.(229-231)acG>acA	p.T77T	YTHDF2_uc001brc.3_Silent_p.T77T|YTHDF2_uc010ofx.2_Silent_p.T27T|YTHDF2_uc001bre.3_Silent_p.T27T	NM_001173128	NP_001166299	Q9Y5A9	YTHD2_HUMAN	Homo sapiens YTH domain family, member 2 (YTHDF2), transcript variant 2, mRNA.	77					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CTTGGTCTACGGGGGGTGACA	0.502													A	29069013	G	A	29069013	2	1	223	1	0	0	0	0	0	0	0	1	17601	1103	39	1		1	YTHDF2	1	29069013	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	4399629	29069013	220181608	2	15272											
BRDT	676	broad.mit.edu	37	chr1	92445139	92445139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacaggatgttttcgaaaCgcatttttcaaagatcccga	13	13	7	8	3	1	1	1	0	0	1	3	4	2	2	1	1	2	2	1	1	3	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:92445139C>T	uc001dol.4	+	8	1530	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	BRDT_uc010osz.2_Missense_Mutation_p.T375M|BRDT_uc001dok.4_Missense_Mutation_p.T371M|BRDT_uc009wdf.3_Missense_Mutation_p.T298M|BRDT_uc010otb.2_Missense_Mutation_p.T325M|BRDT_uc010ota.2_Missense_Mutation_p.T325M|BRDT_uc001dom.4_Missense_Mutation_p.T371M	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.T371T(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTTTTCGAAACGCATTTTTCA	0.318													T	92445139	C	T	92445139	3	4	223	1	0	0	0	0	1	0	0	0	1517	536	19	1	1138	1	BRDT	1	92445139	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	63376126	92445139	156805482	3	15273											
APH1A	51107	broad.mit.edu	37	chr1	150241179	150241179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgggccgaacgcgacgAaagtgcagccgaaaaacacc	14	1	13	13	6	0	0	0	0	0	0	0	4	0	0	4	2	4	1	4	2	4	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:150241179A>G	uc001ety.2	-	0	431	c.32T>C	c.(31-33)tTc>tCc	p.F11S	APH1A_uc001etz.2_Missense_Mutation_p.F11S|APH1A_uc010pbx.2_Missense_Mutation_p.F11S|APH1A_uc010pby.2_Missense_Mutation_p.F11S|APH1A_uc010pbz.2_5'UTR	NM_001077628	NP_001071096	Q96BI3	APH1A_HUMAN	Homo sapiens anterior pharynx defective 1 homolog A (C. elegans) (APH1A), transcript variant 1, mRNA.	11					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAACGCGACGAAAGTGCAGCC	0.662													G	150241179	A	G	150241179	3	3	223	1	0	0	0	0	1	0	0	0	773	246	9	3	804	3	APH1A	1	150241179	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	57796040	150241179	99009442	4	15274											
OR6N2	81442	broad.mit.edu	37	chr1	158746549	158746549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaatgatttccttgttacGaagactgtagataattggat	12	17	8	4	1	0	3	0	1	0	2	1	5	1	4	1	1	1	2	1	1	5	8	rs144962739		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:158746549G>A	uc010pir.2	-	0	877	c.877C>T	c.(877-879)Cgt>Tgt	p.R293C		NM_001005278	NP_001005278	Q8NGY6	OR6N2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 2 (OR6N2), mRNA.	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TCCTTGTTACGAAGACTGTAG	0.418													A	158746549	G	A	158746549	3	1	223	1	0	0	0	0	1	0	0	0	11283	1058	37	1	79	1	OR6N2	1	158746549	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	8505370	158746549	90504072	5	15275											
C1orf49	400798	broad.mit.edu	37	chr1	178514898	178514898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatcttcagtttgttcGtcaaagggccaagaaatctg	11	12	10	8	1	4	2	2	1	2	1	5	2	4	2	1	1	0	2	1	1	3	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:178514898G>A	uc001glv.1	+						C1orf220_uc001glx.1_Non-coding_Transcript			Q5T0J7	CA049_HUMAN	Homo sapiens chromosome 1 open reading frame 49 (C1orf49), transcript variant 3, mRNA.							microtubule cytoskeleton				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|skin(1)	13						CAGTTTGTTCGTCAAAGGGCC	0.483													A	178514898	G	A	178514898	3	1	223	1	0	0	0	0	1	0	0	0	2062	1160	40	1		1	C1orf49	1	178514898	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	19768349	178514898	70735723	6	15276											
GPR25	2848	broad.mit.edu	37	chr1	200842843	200842843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctactgccgcatctcGcgccgcctgcgacggccgcc	3	8	11	19	7	2	0	0	0	2	0	3	1	2	0	5	1	4	2	5	1	1	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:200842843G>A	uc001gvn.1	+	0	678	c.678G>A	c.(676-678)tcG>tcA	p.S226S		NM_005298	NP_005289	O00155	GPR25_HUMAN	Homo sapiens G protein-coupled receptor 25 (GPR25), mRNA.	226						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						GCCGCATCTCGCGCCGCCTGC	0.682													A	200842843	G	A	200842843	2	1	223	1	0	0	0	0	0	0	0	1	6737	1074	38	1		1	GPR25	1	200842843	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	22327945	200842843	48407778	7	15277											
DUSP10	11221	broad.mit.edu	37	chr1	221879666	221879666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgggggtgagctcagcgttCtcgatgtcaggggtggtggg	5	10	20	6	2	3	1	2	1	1	0	4	2	3	1	0	6	2	2	0	6	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr1:221879666C>G	uc001hmy.2	-	2	1191	c.954G>C	c.(952-954)gaG>gaC	p.E318D	DUSP10_uc001hmx.2_5'UTR|DUSP10_uc001hmz.2_5'UTR	NM_007207	NP_009138	Q9Y6W6	DUS10_HUMAN	Homo sapiens dual specificity phosphatase 10 (DUSP10), transcript variant 1, mRNA.	318					inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.E318*(1)		NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		GCTCAGCGTTCTCGATGTCAG	0.632													G	221879666	C	G	221879666	3	3	223	1	0	0	0	0	1	0	0	0	4849	912	32	4	502	4	DUSP10	1	221879666	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	21036823	221879666	27370955	8	15278											
APOB	338	broad.mit.edu	37	chr2	21233457	21233457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttcaggtttctctgtaCgttttccagtacaactataa	9	16	7	9	1	2	0	1	0	1	0	4	0	3	0	1	1	4	5	1	1	5	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:21233457C>T	uc002red.3	-	25	6411	c.6283G>A	c.(6283-6285)Gta>Ata	p.V2095I		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2095	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCTCTGTACGTTTTCCAGT	0.368													T	21233457	C	T	21233457	3	4	223	1	0	0	0	0	1	0	0	0	788	536	19	1	7424	1	APOB	2	21233457	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		21233457	221965916	9	15279											
TMEM150A	129303	broad.mit.edu	37	chr2	85828199	85828199	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgggacccccttgctcagCagggtcaggagggcaggact	7	7	15	12	0	2	0	2	0	0	0	2	3	2	3	2	5	2	3	2	5	0	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:85828199C>G	uc002spy.2	-	3	354	c.145G>C	c.(145-147)Gct>Cct	p.A49P	USP39_uc002sqb.3_5'Flank|TMEM150A_uc002spx.2_5'UTR|TMEM150A_uc002spz.2_Silent_p.L18L	NM_001031738	NP_001026908	Q86TG1	T150A_HUMAN	Homo sapiens transmembrane protein 150A (TMEM150A), transcript variant 1, mRNA.	49						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						CCTTGCTCAGCAGGGTCAGGA	0.642													G	85828199	C	G	85828199	3	3	223	1	0	0	0	0	1	0	0	0	16167	710	25	4	690	4	TMEM150A	2	85828199	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	64594742	85828199	157371174	10	15280											
BAZ2B	29994	broad.mit.edu	37	chr2	160241783	160241783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttcagtaagctcagttTgtccacagtgggcttccata	9	13	9	10	0	2	0	2	0	0	0	4	1	4	0	2	1	1	4	2	1	2	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:160241783T>C	uc002uao.3	-	22	3974	c.3569A>G	c.(3568-3570)cAa>cGa	p.Q1190R	BAZ2B_uc002uap.3_Missense_Mutation_p.Q1154R	NM_013450	NP_038478	Q9UIF8	BAZ2B_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 2B (BAZ2B), mRNA.	1190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						AAGCTCAGTTTGTCCACAGTG	0.438													C	160241783	T	C	160241783	3	2	223	1	0	0	0	0	1	0	0	0	1337	1812	63	3	2997	3	BAZ2B	2	160241783	Missense_Mutation	SNP	T	TCGA-32-1979-01A-01D-1696-08	74413584	160241783	82957590	11	15281											
ARPC2	10109	broad.mit.edu	37	chr2	219103491	219103492	+	Frame_Shift_Del	DEL	TT	TT	-																															gaaattgttttgcctctgtcTttgaaaaatacttccaattc																										TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:219103491_219103492delTT	uc002vhd.3	+	5	485_486	c.373_374delTT	c.(373-375)tttfs	p.F125fs	ARPC2_uc002vhe.3_Frame_Shift_Del_p.F125fs|ARPC2_uc002vhf.3_Frame_Shift_Del_p.F11fs	NM_152862	NP_690601	O15144	ARPC2_HUMAN	Homo sapiens actin related protein 2/3 complex, subunit 2, 34kDa (ARPC2), transcript variant 1, mRNA.	125					cellular component movement	Arp2/3 protein complex|cell projection|Golgi apparatus	actin binding|structural constituent of cytoskeleton	p.V124V(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	6		Renal(207;0.0474)		Epithelial(149;1.21e-06)|all cancers(144;0.000212)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0103)		TGCCTCTGTCTTTGAAAAATAC	0.416													-	219103492	TT	-	219103491	7	5	223	1	0	1	0	1	0	0	0	0	976	1609	56	0	391	0	ARPC2	2	219103491	Frame_Shift_Del	DEL	TT	TCGA-32-1979-01A-01D-1696-08	58861708	219103491	24095882	12	15282											
UGT1A1	54579	broad.mit.edu	37	chr2	234621782	234621782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcatgcgggaggccttgCgggacctccatgcgagaggc	7	6	16	12	3	1	1	1	0	0	1	2	4	2	3	3	4	4	1	3	4	0	1	rs41270755	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr2:234621782C>T	uc002vuw.3	+	0	145	c.145C>T	c.(145-147)Cgg>Tgg	p.R49W	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Missense_Mutation_p.R49W	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	48					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GGAGGCCTTGCGGGACCTCCA	0.582													T	234621782	C	T	234621782	3	4	223	1	0	0	0	0	1	0	0	0	17046	759	27	1		1	UGT1A1	2	234621782	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	15518291	234621782	8577591	13	15283											
WDR82	80335	broad.mit.edu	37	chr3	52304745	52304745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccgtctattttgttagagCtgtaaacaactgtgtttgct	9	17	8	7	1	1	1	0	0	1	1	1	1	1	1	1	0	5	5	1	0	6	7			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:52304745C>G	uc003ddl.2	-	1	524	c.242G>C	c.(241-243)aGc>aCc	p.S81T	WDR82_uc003ddk.2_5'Flank|MIRLET7G_uc011bee.2_5'Flank	NM_025222	NP_079498	Q6UXN9	WDR82_HUMAN	Homo sapiens WD repeat domain 82 (WDR82), mRNA.	81					histone H3-K4 methylation	chromatin|PTW/PP1 phosphatase complex|Set1C/COMPASS complex	protein binding								BRCA - Breast invasive adenocarcinoma(193;2.67e-05)|Kidney(197;0.00198)|KIRC - Kidney renal clear cell carcinoma(197;0.00223)|OV - Ovarian serous cystadenocarcinoma(275;0.246)		TTTGTTAGAGCTGTAAACAAC	0.378													G	52304745	C	G	52304745	3	3	223	1	0	0	0	0	1	0	0	0	17433	797	28	4	731	4	WDR82	3	52304745	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		52304745	145717685	14	15284											
DNAH12	201625	broad.mit.edu	37	chr3	57493505	57493505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcattatcttctcttctgcGtttctagtttgtattgatag	6	22	6	7	1	5	1	1	1	4	0	6	1	5	1	0	0	1	3	0	0	4	10			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:57493505G>A	uc003dit.2	-	7	943	c.762C>T	c.(760-762)aaC>aaT	p.N254N	DNAH12_uc003diu.2_Silent_p.N254N	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	254	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TCTCTTCTGCGTTTCTAGTTT	0.333													A	57493505	G	A	57493505	2	1	223	1	0	0	0	0	0	0	0	1	4639	1136	40	1		1	DNAH12	3	57493505	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	5188760	57493505	140528925	15	15285											
AADACL2	344752	broad.mit.edu	37	chr3	151475339	151475339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatttacgtctaggtcttaGgataagagatatgtatgtaa	13	16	9	3	1	2	1	0	0	2	1	2	3	2	2	0	2	1	2	0	2	8	9			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:151475339G>A	uc003ezc.3	+	4	1283	c.1163G>A	c.(1162-1164)aGg>aAg	p.R388K	MIR548H2_uc021xgb.1_Intron|AADACL2_uc010hvn.3_Missense_Mutation_p.R175K	NM_207365	NP_997248	Q6P093	ADCL2_HUMAN	Homo sapiens arylacetamide deacetylase-like 2 (AADACL2), mRNA.	388						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			CTAGGTCTTAGGATAAGAGAT	0.328													A	151475339	G	A	151475339	3	1	223	1	0	0	0	0	1	0	0	0	11	1000	35	2	1181	2	AADACL2	3	151475339	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	93981834	151475339	46547091	16	15286											
PIK3CA	5290	broad.mit.edu	37	chr3	178952152	178952152	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcatgcattgaactgAaaagataactgagaaaatga	21	7	8	5	0	0	5	0	4	0	2	0	6	0	5	0	0	5	2	0	0	7	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr3:178952152A>G	uc003fjk.3	+	20	3364	c.3207A>G	c.(3205-3207)tgA>tgG	p.*1069W		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	0					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.N1068fs*4(15)|p.*1069_*1069insWKDN*(6)|p.N1068fs*5(2)|p.*1069W(1)|p.*1069fs*3(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATTGAACTGAAAAGATAACT	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952152	A	G	178952152	4	3	223	1	0	0	0	0	0	0	0	0	11990	259	9	3	3285	3	PIK3CA	3	178952152	Nonstop_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	27476813	178952152	19070278	17	15287											
GABRG1	2565	broad.mit.edu	37	chr4	46043099	46043099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagtcaattttggcaatgCgtatgtgtatccttccttcc	9	15	8	9	1	1	1	1	0	0	1	4	1	4	1	3	1	1	3	3	1	5	6			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:46043099C>T	uc003gxb.3	-	8	1456	c.1304G>A	c.(1303-1305)cGc>cAc	p.R435H		NM_173536	NP_775807	Q8N1C3	GBRG1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 1 (GABRG1), mRNA.	435					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.R435C(2)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTTGGCAATGCGTATGTGTAT	0.403													T	46043099	C	T	46043099	3	4	223	1	0	0	0	0	1	0	0	0	6223	768	27	1	97	1	GABRG1	4	46043099	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		46043099	145111177	18	15288											
FRYL	285527	broad.mit.edu	37	chr4	48536560	48536560	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagttttgtggtcactcAcctgtacatatttgccaata	10	16	7	8	0	2	0	2	0	0	0	2	0	2	0	2	1	2	3	2	1	5	7			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:48536560A>C	uc003gyh.1	-	49	7310	c.6705_splice	c.e49+1	p.Q2235_splice	FRYL_uc003gyg.1_Splice_Site_p.Q931_splice|FRYL_uc003gyi.1_Splice_Site_p.Q1123_splice|FRYL_uc003gyj.1_Splice_Site_p.Q530_splice	NM_015030	NP_055845	O94915	FRYL_HUMAN	Homo sapiens FRY-like (FRYL), mRNA.	2235					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						gtggtcacTCACCTGTACATA	0.343													C	48536560	A	C	48536560	5	2	223	1	0	0	0	0	0	0	1	0	6116	173	6	5	2398	5	FRYL	4	48536560	Splice_Site	SNP	A	TCGA-32-1979-01A-01D-1696-08	2493461	48536560	142617716	19	15289											
UGT2B28	54490	broad.mit.edu	37	chr4	70160487	70160487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtctgttttgtttctGgaagtttgctagaaaaggga	8	18	12	3	0	2	1	0	0	2	1	2	3	2	3	0	2	1	5	0	2	4	7			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:70160487G>A	uc003hej.3	+	5	1552	c.1550G>A	c.(1549-1551)tGg>tAg	p.W517*	UGT2B28_uc010ihr.3_3'UTR	NM_053039	NP_444267	Q9BY64	UDB28_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B28 (UGT2B28), transcript variant 1, mRNA.	517					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.F516F(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	TTTTGTTTCTGGAAGTTTGCT	0.413													A	70160487	G	A	70160487	4	1	223	1	0	0	0	0	0	1	0	0	17062	1357	47	2	1572	2	UGT2B28	4	70160487	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	21623927	70160487	120993789	20	15290											
ANKRD17	26057	broad.mit.edu	37	chr4	73959897	73959897	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatattacagcctcctctTccaatcactctggatatcac	10	14	4	13	0	4	1	2	1	2	0	6	2	6	2	3	1	2	0	3	1	4	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:73959897T>C	uc003hgp.3	-	27	5343	c.5226A>G	c.(5224-5226)ggA>ggG	p.G1742G	ANKRD17_uc003hgo.3_Silent_p.G1629G|ANKRD17_uc003hgq.3_Silent_p.G1491G|ANKRD17_uc003hgr.3_Silent_p.G1741G	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	1742	KH.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGCCTCCTCTTCCAATCACTC	0.333													C	73959897	T	C	73959897	2	2	223	1	0	0	0	0	0	0	0	1	646	1770	62	3		3	ANKRD17	4	73959897	Silent	SNP	T	TCGA-32-1979-01A-01D-1696-08	3799410	73959897	117194379	21	15291											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005491	118005491	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtctactctatttgaagtTtccactcccactccgttttc	7	16	4	14	1	2	1	0	1	2	0	6	1	5	1	3	0	1	2	3	0	3	6			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:118005491T>G	uc003ibv.4	-	0	1246	c.1059A>C	c.(1057-1059)gaA>gaC	p.E353D		NM_152402	NP_689615	Q8N609	TR1L1_HUMAN	Homo sapiens translocation associated membrane protein 1-like 1 (TRAM1L1), mRNA.	353					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						TATTTGAAGTTTCCACTCCCA	0.393													G	118005491	T	G	118005491	3	3	223	1	0	0	0	0	1	0	0	0	16553	1838	64	5	54	5	TRAM1L1	4	118005491	Missense_Mutation	SNP	T	TCGA-32-1979-01A-01D-1696-08	44045594	118005491	73148785	22	15292											
TKTL2	84076	broad.mit.edu	37	chr4	164394680	164394680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagaggatgaaccggtcGttgtccgggtgttctgggtc	5	11	17	8	3	1	2	0	1	1	1	4	4	2	3	2	5	1	2	2	5	1	2	rs114941835	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr4:164394680G>A	uc003iqp.4	-	0	368	c.207C>T	c.(205-207)aaC>aaT	p.N69N		NM_032136	NP_115512	Q9H0I9	TKTL2_HUMAN	Homo sapiens transketolase-like 2 (TKTL2), mRNA.	69						cytoplasm	metal ion binding|transketolase activity	p.N69K(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAACCGGTCGTTGTCCGGGT	0.557													A	164394680	G	A	164394680	2	1	223	1	0	0	0	0	0	0	0	1	16036	1136	40	1		1	TKTL2	4	164394680	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	46389189	164394680	26759596	23	15293											
IRX2	153572	broad.mit.edu	37	chr5	2749815	2749815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcggtacgcggggtcgttGagctggtacgggtaggccgc	4	9	19	9	6	0	1	0	1	0	0	1	1	0	1	1	6	4	5	1	6	3	5	rs138413279	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:2749815G>A	uc003jda.3	-	1	578	c.336C>T	c.(334-336)ctC>ctT	p.L112L	C5orf38_uc003jdc.3_5'Flank|C5orf38_uc011cmg.2_5'Flank|C5orf38_uc011cmh.2_5'Flank|C5orf38_uc011cmi.2_5'Flank|C5orf38_uc011cmj.2_5'Flank|IRX2_uc003jdb.3_Silent_p.L112L	NM_001134222	NP_150366	Q9BZI1	IRX2_HUMAN	Homo sapiens iroquois homeobox 2 (IRX2), transcript variant 2, mRNA.	112						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CGGGGTCGTTGAGCTGGTACG	0.682													A	2749815	G	A	2749815	2	1	223	1	0	0	0	0	0	0	0	1	7902	1277	45	2		2	IRX2	5	2749815	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		2749815	178165445	24	15294											
UGT3A2	167127	broad.mit.edu	37	chr5	36036029	36036029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgtgtggggctgagcGggtgggagcgcaggatgaca	6	6	21	8	3	0	2	0	2	0	0	0	4	0	4	1	5	2	3	1	5	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:36036029G>A	uc003jjz.2	-	6	1475	c.1343C>T	c.(1342-1344)cCg>cTg	p.P448L	UGT3A2_uc011cos.2_Missense_Mutation_p.P414L|UGT3A2_uc011cot.2_Missense_Mutation_p.P146L	NM_174914	NP_777574	Q3SY77	UD3A2_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A2 (UGT3A2), transcript variant 1, mRNA.	448						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GGGGCTGAGCGGGTGGGAGCG	0.597													A	36036029	G	A	36036029	3	1	223	1	0	0	0	0	1	0	0	0	17066	1116	39	1	232	1	UGT3A2	5	36036029	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	33286214	36036029	144879231	25	15295											
HCN1	348980	broad.mit.edu	37	chr5	45303809	45303809	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacccacggctccttctcGtatgatataatctccaggtt	8	15	6	12	2	2	1	0	1	2	0	5	1	3	1	3	2	1	3	3	2	4	7	rs35229491		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:45303809G>A	uc003jok.3	-	5	1535	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	504						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.R504*(2)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCTCCTTCTCGTATGATATAA	0.403													A	45303809	G	A	45303809	4	1	223	1	0	0	0	0	0	1	0	0	7051	1153	40	1	1174	1	HCN1	5	45303809	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9267780	45303809	135611451	26	15296											
P4HA2	8974	broad.mit.edu	37	chr5	131544873	131544873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggctctcgtaaacatcCctctcaggcaggtagtccac	10	8	9	14	1	2	1	1	0	2	1	6	1	4	1	2	3	1	4	2	3	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:131544873C>T	uc003kwh.3	-	6	1425	c.861G>A	c.(859-861)agG>agA	p.R287R	P4HA2_uc003kwg.3_Silent_p.R287R|P4HA2_uc003kwi.3_Silent_p.R287R|P4HA2_uc003kwk.3_Silent_p.R287R|P4HA2_uc003kwl.3_Silent_p.R287R|P4HA2_uc003kwj.3_Silent_p.R287R	NM_004199	NP_004190	O15460	P4HA2_HUMAN	Homo sapiens prolyl 4-hydroxylase, alpha polypeptide II (P4HA2), transcript variant 1, mRNA.	287						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding	p.R287R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	CGTAAACATCCCTCTCAGGCA	0.542													T	131544873	C	T	131544873	2	4	223	1	0	0	0	0	0	0	0	1	11433	622	22	2		2	P4HA2	5	131544873	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	86241064	131544873	49370387	27	15297											
PCDH12	51294	broad.mit.edu	37	chr5	141336339	141336339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttctgacaccagtgatgGctgggaggcccatgtgacgt	8	9	14	10	1	1	3	0	3	1	0	1	4	1	4	2	3	1	2	2	3	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:141336339G>C	uc003llx.3	-	0	2289	c.1078C>G	c.(1078-1080)Cca>Gca	p.P360A		NM_016580	NP_057664	Q9NPG4	PCD12_HUMAN	Homo sapiens protocadherin 12 (PCDH12), mRNA.	360	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAGTGATGGCTGGGAGGCC	0.507													C	141336339	G	C	141336339	3	2	223	1	0	0	0	0	1	0	0	0	11586	1203	42	4	2492	4	PCDH12	5	141336339	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9791466	141336339	39578921	28	15298											
PDE6A	5145	broad.mit.edu	37	chr5	149265912	149265912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaaggcctctaggtccGtgaagtagcgcttcagcttt	7	11	12	11	2	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	4	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:149265912G>A	uc003lrg.4	-	13	1874	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M	PDE6A_uc021yfs.1_Missense_Mutation_p.T504M	NM_000440	NP_000431	P16499	PDE6A_HUMAN	Homo sapiens phosphodiesterase 6A, cGMP-specific, rod, alpha (PDE6A), mRNA.	585					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTCTAGGTCCGTGAAGTAGCG	0.532													A	149265912	G	A	149265912	3	1	223	1	0	0	0	0	1	0	0	0	11721	1145	40	1	864	1	PDE6A	5	149265912	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7929573	149265912	31649348	29	15299											
FAM71B	153745	broad.mit.edu	37	chr5	156590194	156590194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagactggcggcccccGccatcgaggtggaagtacct	8	5	16	12	3	0	1	0	0	0	1	1	5	0	3	4	5	1	1	4	5	2	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:156590194G>A	uc003lwn.3	-	1	1182	c.1082C>T	c.(1081-1083)gCg>gTg	p.A361V		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	361						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GGCGGCCCCCGCCATCGAGGT	0.567													A	156590194	G	A	156590194	3	1	223	1	0	0	0	0	1	0	0	0	5658	1087	38	1	739	1	FAM71B	5	156590194	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7324282	156590194	24325066	30	15300											
GABRB2	2561	broad.mit.edu	37	chr5	160721114	160721114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataataaagccaatagaCgatgttgaagaaggaaaaaa	22	6	8	5	1	0	3	0	1	0	2	0	5	0	4	1	1	1	1	1	1	10	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr5:160721114C>T	uc003lys.1	-	10	1731	c.1513G>A	c.(1513-1515)Gtc>Atc	p.V505I	GABRB2_uc011deh.1_Missense_Mutation_p.V306I|GABRB2_uc003lyr.1_Missense_Mutation_p.V467I|GABRB2_uc003lyt.1_Missense_Mutation_p.V467I	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	505					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCCAATAGACGATGTTGAAG	0.453													T	160721114	C	T	160721114	3	4	223	1	0	0	0	0	1	0	0	0	6219	536	19	1	29	1	GABRB2	5	160721114	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4130920	160721114	20194146	31	15301											
KIF13A	63971	broad.mit.edu	37	chr6	17779855	17779855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatactatttcataggttaCaccacaggaataaaatatat	17	12	6	6	0	1	0	1	0	0	0	1	2	1	2	1	3	2	1	1	3	9	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:17779855C>T	uc003ncg.4	-	31	4067	c.3907G>A	c.(3907-3909)Gta>Ata	p.V1303I	KIF13A_uc003ncf.3_Missense_Mutation_p.V1290I|KIF13A_uc003nch.4_Missense_Mutation_p.V1303I|KIF13A_uc003nci.4_Missense_Mutation_p.V1290I|KIF13A_uc003nce.2_5'Flank	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	1303					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCATAGGTTACACCACAGGAA	0.383													T	17779855	C	T	17779855	3	4	223	1	0	0	0	0	1	0	0	0	8332	478	17	2	1567	2	KIF13A	6	17779855	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		17779855	153335212	32	15302											
DEF6	50619	broad.mit.edu	37	chr6	35280250	35280250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgcggggcgtgggcCgggacaccctcagcatggcc	4	5	17	15	3	1	0	1	0	0	0	1	1	1	1	4	5	3	2	4	5	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:35280250C>T	uc003okk.3	+	3	634	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	DEF6_uc010jvs.3_Missense_Mutation_p.R199W|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	199						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGGCGTGGGCCGGGACACCCT	0.652													T	35280250	C	T	35280250	3	4	223	1	0	0	0	0	1	0	0	0	4420	643	23	1	609	1	DEF6	6	35280250	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	17500395	35280250	135834817	33	15303											
MOCS1	4337	broad.mit.edu	37	chr6	39877612	39877612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttcctgcccacagcagCcccaatgattctcagcagct	8	10	6	17	0	2	1	1	1	2	0	4	1	3	1	4	0	5	3	4	0	1	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:39877612C>T	uc003opb.3	-	7	1207	c.1069G>A	c.(1069-1071)Gct>Act	p.A357T	MOCS1_uc003opa.3_Missense_Mutation_p.A357T|MOCS1_uc003opd.3_Missense_Mutation_p.A357T|MOCS1_uc003ope.3_Missense_Mutation_p.A270T	NM_005943	NP_005934	Q9NZB8	MOCS1_HUMAN	Homo sapiens molybdenum cofactor synthesis 1 (MOCS1), transcript variant 1, mRNA.	357	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding	p.A357V(1)		central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCCACAGCAGCCCCAATGATT	0.622													T	39877612	C	T	39877612	3	4	223	1	0	0	0	0	1	0	0	0	9766	739	26	2	96	2	MOCS1	6	39877612	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4597362	39877612	131237455	34	15304											
KIAA1244	57221	broad.mit.edu	37	chr6	138531138	138531138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgccgtgaaagtgaCgccttcgctcaacgaggacc	11	7	11	12	4	1	3	1	3	0	0	2	5	1	4	3	1	2	1	3	1	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:138531138C>T	uc003qhu.3	+	3	482	c.311C>T	c.(310-312)aCg>aTg	p.T104M		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	104					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTGAAAGTGACGCCTTCGCTC	0.502													T	138531138	C	T	138531138	3	4	223	1	0	0	0	0	1	0	0	0	8275	536	19	1	325	1	KIAA1244	6	138531138	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	98653526	138531138	32583929	35	15305											
IGF2R	3482	broad.mit.edu	37	chr6	160501272	160501272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtagcacaactgcggactAcgacagagaccacgagtggg	12	5	14	10	3	0	1	0	0	0	1	0	5	0	2	1	2	4	2	1	2	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr6:160501272A>G	uc003qta.3	+	38	5946	c.5798A>G	c.(5797-5799)tAc>tGc	p.Y1933C		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	1933	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		ACTGCGGACTACGACAGAGAC	0.577													G	160501272	A	G	160501272	3	3	223	1	0	0	0	0	1	0	0	0	7634	391	14	3	5952	3	IGF2R	6	160501272	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	21970134	160501272	10613795	36	15306											
SCIN	85477	broad.mit.edu	37	chr7	12683930	12683930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttaaggatccaagaaggCgaggagccaggtgtgtgctc	11	7	14	9	1	0	1	0	0	0	1	2	4	1	3	3	4	2	1	3	4	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:12683930C>T	uc003ssn.4	+	11	1959	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	SCIN_uc010ktt.3_Intron|SCIN_uc003sso.4_Silent_p.G336G	NM_001112706	NP_149119	Q9Y6U3	ADSV_HUMAN	Homo sapiens scinderin (SCIN), transcript variant 1, mRNA.	583	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TCCAAGAAGGCGAGGAGCCAG	0.448													T	12683930	C	T	12683930	2	4	223	1	0	0	0	0	0	0	0	1	13998	755	27	1		1	SCIN	7	12683930	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08		12683930	146454733	37	15307											
IKZF1	10320	broad.mit.edu	37	chr7	50467929	50467929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctcggagcgcgaggcGtccccgagcaacagctgcca	7	4	14	16	5	0	0	0	0	0	0	2	3	1	1	4	2	6	2	4	2	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:50467929G>A	uc003tow.4	+	7	1319	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A	IKZF1_uc022acq.1_Silent_p.A245A|IKZF1_uc003tpa.4_Silent_p.A153A|IKZF1_uc022acr.1_Silent_p.A163A|IKZF1_uc022acs.1_Silent_p.A118A|IKZF1_uc022act.1_Silent_p.A291A|IKZF1_uc022acu.1_Silent_p.A301A|IKZF1_uc003tox.4_Silent_p.A346A|IKZF1_uc022acv.1_Silent_p.A249A|IKZF1_uc022acw.1_Silent_p.A259A|IKZF1_uc022acx.1_Silent_p.A301A|IKZF1_uc022acy.1_Silent_p.A195A|IKZF1_uc022acz.1_Silent_p.A205A|IKZF1_uc011kck.2_Silent_p.A301A|IKZF1_uc003toy.4_Silent_p.A346A|IKZF1_uc003toz.4_Silent_p.A358A|IKZF1_uc010kyx.3_Silent_p.A128A	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	388					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGCGCGAGGCGTCCCCGAGCA	0.672			"D,T"	BCL6	"ALL, DLBCL"								A	50467929	G	A	50467929	2	1	223	1	0	0	0	0	0	0	0	1	7672	1132	40	1		1	IKZF1	7	50467929	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	37783999	50467929	108670734	38	15308											
EGFR	1956	broad.mit.edu	37	chr7	55221765	55221765	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccccccactcatgctctAcaaccccaccacgtaccaga	10	6	4	21	1	2	1	1	0	1	1	2	1	2	1	7	0	5	2	7	0	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:55221765A>G	uc003tqk.3	+	6	1055	c.809A>G	c.(808-810)tAc>tGc	p.Y270C	EGFR_uc003tqh.3_Missense_Mutation_p.Y270C|EGFR_uc003tqi.3_Missense_Mutation_p.Y270C|EGFR_uc003tqj.3_Missense_Mutation_p.Y270C|EGFR_uc022adm.1_Missense_Mutation_p.Y270C|EGFR_uc010kzg.2_Missense_Mutation_p.Y225C|EGFR_uc022adn.1_Missense_Mutation_p.Y225C|EGFR_uc011kco.2_Missense_Mutation_p.Y217C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	270					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTCATGCTCTACAACCCCACC	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55221765	A	G	55221765	3	3	223	1	0	0	0	0	1	0	0	0	5006	391	14	3	835	3	EGFR	7	55221765	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	4753836	55221765	103916898	39	15309											
AZGP1	563	broad.mit.edu	37	chr7	99565820	99565820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtatttcaggtatttccGcagagtcgcagggcactcct	7	12	11	11	2	1	1	1	0	0	1	4	1	3	1	2	2	0	6	2	2	2	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:99565820G>A	uc003ush.3	-	2	663	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W		NM_001185	NP_001176	P25311	ZA2G_HUMAN	Homo sapiens alpha-2-glycoprotein 1, zinc-binding (AZGP1), mRNA.	191					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					AGGTATTTCCGCAGAGTCGCA	0.552													A	99565820	G	A	99565820	3	1	223	1	0	0	0	0	1	0	0	0	1244	1086	38	1	333	1	AZGP1	7	99565820	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	44344055	99565820	59572843	40	15310											
OR6V1	346517	broad.mit.edu	37	chr7	142749461	142749461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatctgagccagccctcCgaatttgtcctcttgggctt	7	12	9	13	1	2	1	0	1	2	0	4	2	4	1	4	1	2	2	4	1	2	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:142749461C>T	uc011ksv.2	+	0	24	c.24C>T	c.(22-24)tcC>tcT	p.S8S		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S8S(3)		endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCAGCCCTCCGAATTTGTCC	0.517													T	142749461	C	T	142749461	2	4	223	1	0	0	0	0	0	0	0	1	11287	639	23	1		1	OR6V1	7	142749461	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	43183641	142749461	16389202	41	15311											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259237	147259237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgttctagctatctaCgagccttcctgtgaagccta	7	16	8	10	1	2	1	0	1	2	0	3	2	3	1	3	0	4	3	3	0	5	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:147259237C>T	uc003weu.2	+	11	2301	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	595	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TAGCTATCTACGAGCCTTCCT	0.448										HNSCC(39;0.1)			T	147259237	C	T	147259237	2	4	223	1	0	0	0	0	0	0	0	1	3678	547	19	1		1	CNTNAP2	7	147259237	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	4509776	147259237	11879426	42	15312											
SSPO	23145	broad.mit.edu	37	chr7	149489760	149489760	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccttccggagctccaacaAcccccgcccctccggccgag	6	5	9	21	4	0	0	0	0	0	0	4	2	4	1	9	2	3	1	9	2	2	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr7:149489760A>C	uc010lpk.3	+	37	5807	c.5807A>C	c.(5806-5808)aAc>aCc	p.N1936T		NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	1939	TSP type-1 3.				cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGCTCCAACAACCCCCGCCCC	0.692													C	149489760	A	C	149489760	3	2	223	1	0	0	0	0	1	0	0	0	15285	43	2	5	5962	5	SSPO	7	149489760	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	2230523	149489760	9648903	43	15313											
PRKDC	5591	broad.mit.edu	37	chr8	48805878	48805878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacagccacccccctcaaagGtgttgatgagaaaagagaca	15	5	9	12	0	1	3	1	2	0	2	1	5	1	3	4	1	1	1	4	1	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:48805878G>A	uc003xqi.3	-	30	3725	c.3668C>T	c.(3667-3669)aCc>aTc	p.T1223I	PRKDC_uc003xqj.3_Missense_Mutation_p.T1223I	NM_006904	NP_008835	P78527	PRKDC_HUMAN	Homo sapiens protein kinase, DNA-activated, catalytic polypeptide (PRKDC), transcript variant 1, mRNA.	1223					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCCCTCAAAGGTGTTGATGAG	0.522								Non-homologous end-joining					A	48805878	G	A	48805878	3	1	223	1	0	0	0	0	1	0	0	0	12607	1261	44	2	8941	2	PRKDC	8	48805878	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		48805878	97558144	44	15314											
PENK	5179	broad.mit.edu	37	chr8	57353950	57353950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaaacctccataccGtttctggtagtccatccacc	9	11	6	15	1	2	0	1	0	1	0	5	1	5	1	6	2	2	2	6	2	3	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:57353950G>A	uc003xsz.2	-	1	766	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	PENK_uc003xta.3_Missense_Mutation_p.R229W	NM_006211	NP_006202	P01210	PENK_HUMAN	Homo sapiens proenkephalin (PENK), transcript variant 2, mRNA.	229					neuropeptide signaling pathway	extracellular region	neuropeptide hormone activity|opioid peptide activity	p.R229W(2)		central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	21		all_lung(136;0.229)	Epithelial(17;0.000873)|all cancers(17;0.0069)			CCTCCATACCGTTTCTGGTAG	0.517													A	57353950	G	A	57353950	3	1	223	1	0	0	0	0	1	0	0	0	11803	1144	40	1	122	1	PENK	8	57353950	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	8548072	57353950	89010072	45	15315											
OXR1	55074	broad.mit.edu	37	chr8	107722899	107722899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgattacataagttcttGtgtctcagagttggaaaacc	12	13	8	8	1	2	1	1	0	2	1	4	3	2	2	1	1	2	2	1	1	4	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:107722899G>T	uc011lht.2	+	8	1776	c.1677G>T	c.(1675-1677)ttG>ttT	p.L559F	OXR1_uc022azp.1_Missense_Mutation_p.L558F|OXR1_uc003ymf.3_Missense_Mutation_p.L558F|OXR1_uc011lhu.2_Missense_Mutation_p.L551F|OXR1_uc010mcg.3_Intron|OXR1_uc010mch.3_Missense_Mutation_p.L256F	NM_001198532	NP_001185461	Q8N573	OXR1_HUMAN	Homo sapiens oxidation resistance 1 (OXR1), transcript variant 3, mRNA.	559					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATAAGTTCTTGTGTCTCAGAG	0.358													T	107722899	G	T	107722899	3	4	223	1	0	0	0	0	1	0	0	0	11410	1368	48	4	1911	4	OXR1	8	107722899	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	50368949	107722899	38641123	46	15316											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488106	134488106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtgcaaggcctgtgcttGatcagtctcttcaggttctc	6	13	11	11	0	4	1	2	1	2	0	6	1	4	1	1	3	2	3	1	3	1	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr8:134488106G>C	uc003yuk.2	-	4	991	c.162C>G	c.(160-162)atC>atG	p.I54M	ST3GAL1_uc003yum.2_Missense_Mutation_p.I54M	NM_173344	NP_775479	Q11201	SIA4A_HUMAN	Homo sapiens ST3 beta-galactoside alpha-2,3-sialyltransferase 1 (ST3GAL1), transcript variant 2, mRNA.	54					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GCCTGTGCTTGATCAGTCTCT	0.597													C	134488106	G	C	134488106	3	2	223	1	0	0	0	0	1	0	0	0	15310	1280	45	4	884	4	ST3GAL1	8	134488106	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	26765207	134488106	11875916	47	15317											
BNC2	54796	broad.mit.edu	37	chr9	16436735	16436735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgcactgtggcgattaCgacttcggagggagctaaag	9	10	15	7	3	0	0	0	0	0	0	1	4	0	2	0	4	3	3	0	4	3	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:16436735C>T	uc003zml.3	-	5	1597	c.1457G>A	c.(1456-1458)cGt>cAt	p.R486H	BNC2_uc011lmw.2_Missense_Mutation_p.R391H|BNC2_uc003zmm.3_Missense_Mutation_p.R444H|BNC2_uc003zmq.1_Missense_Mutation_p.R500H|BNC2_uc003zmr.1_Missense_Mutation_p.R523H|BNC2_uc003zmp.1_Missense_Mutation_p.R514H|BNC2_uc010mij.1_Missense_Mutation_p.R408H|BNC2_uc011lmv.2_Missense_Mutation_p.R312H|BNC2_uc003zmo.1_Missense_Mutation_p.R408H|BNC2_uc003zmj.3_Missense_Mutation_p.R251H|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Missense_Mutation_p.R251H|BNC2_uc003zmn.1_Missense_Mutation_p.R251H	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GTGGCGATTACGACTTCGGAG	0.463													T	16436735	C	T	16436735	3	4	223	1	0	0	0	0	1	0	0	0	1481	536	19	1	1850	1	BNC2	9	16436735	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		16436735	124776696	48	15318											
C9orf64	84267	broad.mit.edu	37	chr9	86559803	86559803	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatcagcaaacatggtgatActggagatgtccttgaagca	14	10	10	7	0	1	3	1	2	0	1	2	4	2	3	1	2	4	2	1	2	4	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:86559803A>T	uc004anb.3	-	2	947	c.699T>A	c.(697-699)agT>agA	p.S233R	C9orf64_uc004anc.3_Missense_Mutation_p.S92R	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	233								p.S233C(2)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						ACATGGTGATACTGGAGATGT	0.428													T	86559803	A	T	86559803	3	4	223	1	0	0	0	0	1	0	0	0	2515	388	14	5	334	5	C9orf64	9	86559803	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	70123068	86559803	54653628	49	15319											
HDHD3	81932	broad.mit.edu	37	chr9	116136378	116136378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcatcctggacacccGccaggtggaaggtctgcagg	8	6	14	13	1	1	1	0	1	1	0	2	3	2	3	4	5	2	2	4	5	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:116136378G>A	uc022bme.1	-	0	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	HDHD3_uc004bhi.1_Missense_Mutation_p.A86V|HDHD3_uc004bhk.3_Missense_Mutation_p.A86V	NM_031219	NP_112496	Q9BSH5	HDHD3_HUMAN	Homo sapiens haloacid dehalogenase-like hydrolase domain containing 3 (HDHD3), mRNA.	86							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						CTGGACACCCGCCAGGTGGAA	0.617													A	116136378	G	A	116136378	3	1	223	1	0	0	0	0	1	0	0	0	7079	1087	38	1	502	1	HDHD3	9	116136378	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	29576575	116136378	25077053	50	15320											
FAM129B	64855	broad.mit.edu	37	chr9	130272452	130272452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttgtcaatgccgccctcGttgatgacgttcaggttcat	7	13	10	11	3	3	2	3	2	0	0	4	2	3	2	2	1	2	4	2	1	1	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr9:130272452G>A	uc004brh.3	-	8	1336	c.1134C>T	c.(1132-1134)aaC>aaT	p.N378N	FAM129B_uc004bri.3_Silent_p.N365N|FAM129B_uc004brj.4_Silent_p.N378N	NM_022833	NP_073744	Q96TA1	NIBL1_HUMAN	Homo sapiens family with sequence similarity 129, member B (FAM129B), transcript variant 1, mRNA.	378							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TGCCGCCCTCGTTGATGACGT	0.637													A	130272452	G	A	130272452	2	1	223	1	0	0	0	0	0	0	0	1	5482	1136	40	1		1	FAM129B	9	130272452	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	14136074	130272452	10940979	51	15321											
RET	5979	broad.mit.edu	37	chr10	43606701	43606701	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggcattcagtggcatcaAcgtccagtacaagctgcatt	11	9	9	12	1	2	0	2	0	0	0	3	0	3	0	2	2	4	5	2	2	3	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:43606701A>T	uc001jal.3	+	6	1500	c.1310A>T	c.(1309-1311)aAc>aTc	p.N437I	RET_uc001jak.1_Missense_Mutation_p.N437I|RET_uc010qez.1_Missense_Mutation_p.N183I	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	437					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.N437N(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGTGGCATCAACGTCCAGTAC	0.582		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				T	43606701	A	T	43606701	3	4	223	1	0	0	0	0	1	0	0	0	13323	43	2	5	1336	5	RET	10	43606701	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08		43606701	91928046	52	15322											
DNMBP	23268	broad.mit.edu	37	chr10	101716663	101716663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaaaaatgcctcttcGgccctctaactccccttcaa	9	12	5	15	1	4	0	1	0	3	0	6	1	5	1	4	2	2	0	4	2	4	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr10:101716663G>A	uc001kqj.2	-	3	660	c.568C>T	c.(568-570)Cga>Tga	p.R190*	DNMBP-AS1_uc001kqk.1_Non-coding_Transcript	NM_015221	NP_056036	Q6XZF7	DNMBP_HUMAN	Homo sapiens dynamin binding protein (DNMBP), mRNA.	190	SH3 3.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATGCCTCTTCGGCCCTCTAAC	0.488													A	101716663	G	A	101716663	4	1	223	1	0	0	0	0	0	1	0	0	4713	1124	39	1	4221	1	DNMBP	10	101716663	Nonsense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	58109962	101716663	33818084	53	15323											
ATHL1	80162	broad.mit.edu	37	chr11	294169	294169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggggggcttcctgcaggCggtggtcttcgggtgcacgg	3	9	19	10	3	1	0	0	0	1	0	3	0	2	0	1	8	2	3	1	8	0	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:294169C>T	uc010qvu.2	+	11	1896	c.1781C>T	c.(1780-1782)gCg>gTg	p.A594V	ATHL1_uc001lor.4_Missense_Mutation_p.A346V|ATHL1_uc001lou.4_Missense_Mutation_p.A169V|ATHL1_uc001lov.4_Missense_Mutation_p.A55V	NM_025092	NP_079368	Q32M88	ATHL1_HUMAN	Homo sapiens ATH1, acid trehalase-like 1 (yeast) (ATHL1), mRNA.	594					carbohydrate metabolic process		hydrolase activity, acting on glycosyl bonds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		TTCCTGCAGGCGGTGGTCTTC	0.652													T	294169	C	T	294169	3	4	223	1	0	0	0	0	1	0	0	0	1109	768	27	1	1823	1	ATHL1	11	294169	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		294169	134712347	54	15324											
TNNT3	7140	broad.mit.edu	37	chr11	1956149	1956149	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacgccagaaatatgaCgtgagtcccggcacctccgg	11	6	11	13	4	0	4	0	3	0	1	2	4	2	4	4	2	1	1	4	2	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:1956149C>T	uc001luu.4	+	14	893	c.681_splice	c.e14+1	p.D227_splice	TNNT3_uc001lun.2_Splice_Site_p.D123_splice|TNNT3_uc001luw.4_Splice_Site_p.D219_splice|TNNT3_uc001luo.4_Splice_Site_p.D219_splice|TNNT3_uc001lup.4_Splice_Site_p.D225_splice|TNNT3_uc001luq.4_Splice_Site_p.D219_splice|TNNT3_uc001lur.3_Splice_Site_p.D219_splice|TNNT3_uc010qxf.2_Splice_Site_p.D225_splice|TNNT3_uc010qxg.2_Splice_Site_p.D159_splice	NM_006757	NP_006748	P45378	TNNT3_HUMAN	Homo sapiens troponin T type 3 (skeletal, fast) (TNNT3), transcript variant 1, mRNA.	238					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		AGAAATATGACGTGAGTCCCG	0.617													T	1956149	C	T	1956149	2	4	223	1	0	0	0	0	0	0	0	1	16432	550	19	1		1	TNNT3	11	1956149	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	1661980	1956149	133050367	55	15325											
SLC6A5	9152	broad.mit.edu	37	chr11	20648387	20648387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaactcacggatgccaCggtgggcttctaattttatc	10	11	11	9	2	2	1	1	0	1	1	3	3	2	2	1	4	2	1	1	4	3	4	rs146647574	byFrequency	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:20648387C>T	uc001mqd.3	+	8	1668	c.1395_splice	c.e8+1	p.T465_splice	SLC6A5_uc009yic.3_Splice_Site_p.T230_splice	NM_004211	NP_004202	Q9Y345	SC6A5_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, glycine), member 5 (SLC6A5), mRNA.	465					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	ACGGATGCCACGGTGGGCTTC	0.562													T	20648387	C	T	20648387	3	4	223	1	0	0	0	0	1	0	0	0	14781	550	19	1	1424	1	SLC6A5	11	20648387	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	18692238	20648387	114358129	56	15326											
CHST1	8534	broad.mit.edu	37	chr11	45671489	45671489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttctggatccagcgggCcacgtggctgtccagcggga	5	9	16	11	3	1	0	0	0	1	0	3	2	3	2	3	4	2	3	3	4	0	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:45671489C>T	uc021qgn.1	-	0	985	c.985G>A	c.(985-987)Gcc>Acc	p.A329T	CHST1_uc001mys.2_Missense_Mutation_p.A329T	NM_003654	NP_003645	O43916	CHST1_HUMAN	Homo sapiens carbohydrate (keratan sulfate Gal-6) sulfotransferase 1 (CHST1), mRNA.	329					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		ATCCAGCGGGCCACGTGGCTG	0.632													T	45671489	C	T	45671489	3	4	223	1	0	0	0	0	1	0	0	0	3427	739	26	2	254	2	CHST1	11	45671489	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	25023102	45671489	89335027	57	15327											
TCN1	6947	broad.mit.edu	37	chr11	59629106	59629106	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagacacaaggccaaaacGtccaggctgagctggtagta	15	5	11	10	1	0	2	0	1	0	1	1	2	1	2	2	3	3	4	2	3	6	2	rs139772818	by1000genomes	TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:59629106G>C	uc001noj.2	-	3	548	c.450C>G	c.(448-450)gaC>gaG	p.D150E		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	150					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGGCCAAAACGTCCAGGCTGA	0.438													C	59629106	G	C	59629106	3	2	223	1	0	0	0	0	1	0	0	0	15806	1136	40	4	875	4	TCN1	11	59629106	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	13957617	59629106	75377410	58	15328											
KDELC2	143888	broad.mit.edu	37	chr11	108352840	108352840	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caacatctcttgaatccagaGagccacaccatgaaatgata	16	8	6	11	0	1	4	0	3	1	1	3	5	2	4	3	0	2	0	3	0	4	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:108352840G>C	uc001pkj.2	-	3	860	c.794C>G	c.(793-795)tCt>tGt	p.S265C	KDELC2_uc001pki.2_Missense_Mutation_p.S209C	NM_153705	NP_714916	Q7Z4H8	KDEL2_HUMAN	Homo sapiens KDEL (Lys-Asp-Glu-Leu) containing 2 (KDELC2), mRNA.	265						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		TGAATCCAGAGAGCCACACCA	0.453													C	108352840	G	C	108352840	3	2	223	1	0	0	0	0	1	0	0	0	8176	942	33	4	749	4	KDELC2	11	108352840	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	48723734	108352840	26653676	59	15329											
AMICA1	120425	broad.mit.edu	37	chr11	118085599	118085599	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgctgctctcaactttcaAatcttaagataaaagaacaa	17	11	4	9	0	3	2	2	0	2	2	4	2	3	2	0	0	4	2	0	0	7	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr11:118085599A>T	uc001psk.2	-	1					AMICA1_uc001psh.2_5'Flank|AMICA1_uc009yzw.1_5'Flank|AMICA1_uc001psi.2_5'Flank|AMICA1_uc010rxw.1_Intron|AMICA1_uc010rxx.1_5'UTR|AMICA1_uc001psl.1_5'Flank	NM_001098526	NP_001091996	Q86YT9	JAML1_HUMAN	Homo sapiens adhesion molecule, interacts with CXADR antigen 1 (AMICA1), transcript variant 1, mRNA.						blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCAACTTTCAAATCTTAAGAT	0.393													T	118085599	A	T	118085599	1	4	223	1	0	0	0	0	0	0	0	0	574	29	1	5		5	AMICA1	11	118085599	Translation_Start_Site	SNP	A	TCGA-32-1979-01A-01D-1696-08	9732759	118085599	16920917	60	15330											
ALG10B	144245	broad.mit.edu	37	chr12	38714180	38714180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatctgggctgtcttctGtgcagggaatgtcattgcac	7	14	11	9	0	5	0	2	0	3	0	5	1	5	1	0	2	2	3	0	2	2	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:38714180G>A	uc001rln.4	+	2	726	c.587G>A	c.(586-588)tGt>tAt	p.C196Y		NM_001013620	NP_001013642	Q5I7T1	AG10B_HUMAN	Homo sapiens asparagine-linked glycosylation 10, alpha-1,2-glucosyltransferase homolog B (yeast) (ALG10B), mRNA.	196					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GCTGTCTTCTGTGCAGGGAAT	0.398													A	38714180	G	A	38714180	3	1	223	1	0	0	0	0	1	0	0	0	512	1377	48	2	597	2	ALG10B	12	38714180	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		38714180	95137715	61	15331											
MYO1A	4640	broad.mit.edu	37	chr12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctccttgttttcatagcGaagctgaagattcttgagca	11	14	8	8	1	3	3	1	2	2	1	4	4	3	3	1	0	3	3	1	0	4	6			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:57442017G>A	uc001smw.4	-	1	331	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_uc010sqz.2_5'Flank|MYO1A_uc009zpd.3_Missense_Mutation_p.R31C	NM_005379	NP_005370	Q9UBC5	MYO1A_HUMAN	Homo sapiens myosin IA (MYO1A), transcript variant 2, mRNA.	31	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542													A	57442017	G	A	57442017	3	1	223	1	0	0	0	0	1	0	0	0	10144	1058	37	1	3148	1	MYO1A	12	57442017	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	18727837	57442017	76409878	62	15332											
SLC17A8	246213	broad.mit.edu	37	chr12	100787226	100787226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtgcattacggatgcGtcatgtgtgtcagaattctg	9	12	12	8	2	3	2	2	0	1	2	3	3	3	3	1	1	3	1	1	1	2	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr12:100787226G>A	uc010svi.2	+	3	866	c.553G>A	c.(553-555)Gtc>Atc	p.V185I	SLC17A8_uc009ztx.3_Missense_Mutation_p.V185I	NM_139319	NP_647480	Q8NDX2	VGLU3_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 8 (SLC17A8), transcript variant 1, mRNA.	185					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity	p.C184C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						TTACGGATGCGTCATGTGTGT	0.448													A	100787226	G	A	100787226	3	1	223	1	0	0	0	0	1	0	0	0	14517	1145	40	1	567	1	SLC17A8	12	100787226	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	43345209	100787226	33064669	63	15333											
CLEC14A	161198	broad.mit.edu	37	chr14	38724727	38724727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtacttgcacaggtagccGttggcgcgcaggtggcatcg	6	9	16	10	4	0	0	0	0	0	0	1	0	0	0	1	5	3	6	1	5	2	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:38724727G>A	uc001wum.1	-	0	848	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	167	C-type lectin.					integral to membrane	sugar binding	p.N167N(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682													A	38724727	G	A	38724727	2	1	223	1	0	0	0	0	0	0	0	1	3530	1136	40	1		1	CLEC14A	14	38724727	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		38724727	68624813	64	15334											
SOS2	6655	broad.mit.edu	37	chr14	50626273	50626273	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcctcagagtcttttacTacaaaacgatatacttcagg	12	15	5	9	1	3	1	2	0	1	1	4	2	4	1	1	1	4	0	1	1	6	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:50626273T>C	uc001wxs.4	-	9	1826	c.1728A>G	c.(1726-1728)gtA>gtG	p.V576V	SOS2_uc010tql.2_Silent_p.V543V|SOS2_uc010tqm.1_Non-coding_Transcript|SOS2_uc001wxt.2_Silent_p.V264V	NM_006939	NP_008870	Q07890	SOS2_HUMAN	Homo sapiens son of sevenless homolog 2 (Drosophila) (SOS2), mRNA.	576					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					AGTCTTTTACTACAAAACGAT	0.333													C	50626273	T	C	50626273	2	2	223	1	0	0	0	0	0	0	0	1	15031	1509	53	3		3	SOS2	14	50626273	Silent	SNP	T	TCGA-32-1979-01A-01D-1696-08	11901546	50626273	56723267	65	15335											
KIF26A	26153	broad.mit.edu	37	chr14	104639702	104639702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgcgggcacccacggcCgagaaggcggctttctacct	7	6	14	14	4	1	1	0	0	1	1	1	3	1	1	3	4	3	3	3	4	2	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr14:104639702C>T	uc001yos.4	+	8	1719	c.1719C>T	c.(1717-1719)gcC>gcT	p.A573A		NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Homo sapiens kinesin family member 26A (KIF26A), mRNA.	573	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CACCCACGGCCGAGAAGGCGG	0.692													T	104639702	C	T	104639702	2	4	223	1	0	0	0	0	0	0	0	1	8352	639	23	1		1	KIF26A	14	104639702	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	54013429	104639702	2709838	66	15336											
SH3GL3	6457	broad.mit.edu	37	chr15	84237359	84237359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaggatacccgcagaCggaaggcttgctgggggact	10	5	15	11	2	0	1	0	0	0	1	0	5	0	4	2	5	2	3	2	5	2	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:84237359C>T	uc002bjw.3	+	3	461	c.266C>T	c.(265-267)aCg>aTg	p.T89M	SH3GL3_uc010uot.1_Missense_Mutation_p.T89M|SH3GL3_uc002bjx.3_Missense_Mutation_p.T20M|SH3GL3_uc002bju.3_Missense_Mutation_p.T97M|SH3GL3_uc002bjv.3_Non-coding_Transcript	NM_003027	NP_003018	Q99963	SH3G3_HUMAN	Homo sapiens SH3-domain GRB2-like 3 (SH3GL3), transcript variant 1, mRNA.	89	BAR.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						TACCCGCAGACGGAAGGCTTG	0.507													T	84237359	C	T	84237359	3	4	223	1	0	0	0	0	1	0	0	0	14346	536	19	1	280	1	SH3GL3	15	84237359	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		84237359	18294033	67	15337											
UNC45A	55898	broad.mit.edu	37	chr15	91483616	91483616	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaatggggttcagctcttGcaacgtttactggacatggg	9	12	13	7	1	2	0	1	0	1	0	2	1	2	1	0	4	4	5	0	4	3	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr15:91483616G>C	uc002bqg.3	+	5	940	c.600G>C	c.(598-600)ttG>ttC	p.L200F	UNC45A_uc002bqd.3_Missense_Mutation_p.L185F|UNC45A_uc010uqo.1_Missense_Mutation_p.L192F|UNC45A_uc010uqp.1_Non-coding_Transcript|UNC45A_uc010uqq.1_Missense_Mutation_p.L200F	NM_018671	NP_061141	Q9H3U1	UN45A_HUMAN	Homo sapiens unc-45 homolog A (C. elegans) (UNC45A), transcript variant 2, mRNA.	200					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			TTCAGCTCTTGCAACGTTTAC	0.567													C	91483616	G	C	91483616	3	2	223	1	0	0	0	0	1	0	0	0	17090	1310	46	4	622	4	UNC45A	15	91483616	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	7246257	91483616	11047776	68	15338											
SEZ6L2	26470	broad.mit.edu	37	chr16	29884701	29884701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtggtgcttgtacagcGtctggtagccattctcggga	6	12	15	8	2	2	0	0	0	2	0	3	1	2	1	1	4	4	4	1	4	3	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr16:29884701G>A	uc010vec.2	-	13	2593	c.2348C>T	c.(2347-2349)aCg>aTg	p.T783M	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Missense_Mutation_p.T713M|SEZ6L2_uc002dur.4_Missense_Mutation_p.T713M|SEZ6L2_uc002duq.4_Missense_Mutation_p.T783M|SEZ6L2_uc010ved.2_Missense_Mutation_p.T739M|SEZ6L2_uc002dus.4_Missense_Mutation_p.T669M	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	783	Sushi 5.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CTTGTACAGCGTCTGGTAGCC	0.622													A	29884701	G	A	29884701	3	1	223	1	0	0	0	0	1	0	0	0	14237	1145	40	1	443	1	SEZ6L2	16	29884701	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		29884701	60470052	69	15339											
MYH1	4619	broad.mit.edu	37	chr17	10406199	10406199	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttagcaatggtttcatcCagacccgccatctcttctgt	8	13	7	13	1	3	1	1	0	2	1	5	1	4	1	3	1	2	3	3	1	2	3			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:10406199C>A	uc002gmo.3	-	23	3061	c.2967G>T	c.(2965-2967)ctG>ctT	p.L989L	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	989						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TGGTTTCATCCAGACCCGCCA	0.507													A	10406199	C	A	10406199	2	1	223	1	0	0	0	0	0	0	0	1	10105	581	21	4		4	MYH1	17	10406199	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08		10406199	70789011	70	15340											
SLFN13	146857	broad.mit.edu	37	chr17	33767745	33767745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggcctgagaatcgccGgacactgtccaacacaatgt	11	8	9	13	2	0	1	0	1	0	1	3	3	2	2	4	2	1	0	4	2	3	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:33767745G>A	uc002hjk.1	-	3	2893	c.2563C>T	c.(2563-2565)Cgg>Tgg	p.R855W	SLFN13_uc010wch.1_Missense_Mutation_p.R855W|SLFN13_uc002hjl.2_Missense_Mutation_p.R855W|SLFN13_uc002hjm.2_Missense_Mutation_p.R524W|SLFN13_uc010ctt.2_Missense_Mutation_p.R537W	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	855						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GAGAATCGCCGGACACTGTCC	0.483													A	33767745	G	A	33767745	3	1	223	1	0	0	0	0	1	0	0	0	14830	1115	39	1	134	1	SLFN13	17	33767745	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	23361546	33767745	47427465	71	15341											
KRTAP1-3	81850	broad.mit.edu	37	chr17	39190659	39190659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcaggaggcctcggCgtggtgcagctggcagcagg	6	4	20	11	3	0	0	0	0	0	0	1	1	0	1	1	7	4	6	1	7	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:39190659C>T	uc002hvv.3	-	0	449	c.415G>A	c.(415-417)Gcc>Acc	p.A139T		NM_030966	NP_112228	Q8IUG1	KRA13_HUMAN	Homo sapiens keratin associated protein 1-3 (KRTAP1-3), mRNA.	149				TP -> HT (in Ref. 1; CAA44938).		extracellular region|keratin filament	structural constituent of epidermis			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(6)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GAGGCCTCGGCGTGGTGCAGC	0.652													T	39190659	C	T	39190659	3	4	223	1	0	0	0	0	1	0	0	0	8561	768	27	1	92	1	KRTAP1-3	17	39190659	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	5422914	39190659	42004551	72	15342											
OR4D2	124538	broad.mit.edu	37	chr17	56247206	56247206	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccatgtactttctgctcCgaaacctggctgtcctagac	8	11	7	15	1	1	1	0	0	1	1	3	2	3	1	4	1	3	3	4	1	3	3	rs148589207		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr17:56247206C>T	uc010wnp.2	+	0	190	c.190C>T	c.(190-192)Cga>Tga	p.R64*		NM_001004707	NP_001004707	P58180	OR4D2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 2 (OR4D2), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L63F(1)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						CTTTCTGCTCCGAAACCTGGC	0.483													T	56247206	C	T	56247206	4	4	223	1	0	0	0	0	0	1	0	0	11132	644	23	1	192	1	OR4D2	17	56247206	Nonsense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	17056547	56247206	24948004	73	15343											
EPB41L3	23136	broad.mit.edu	37	chr18	5395100	5395100	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgcatcccccgtgatgActattcgcttctcaattctt	6	16	6	13	2	3	2	1	2	3	0	6	2	4	2	2	0	1	2	2	0	2	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:5395100A>G	uc002kmt.1	-	20	3205	c.3119T>C	c.(3118-3120)gTc>gCc	p.V1040A	EPB41L3_uc010wzh.1_Missense_Mutation_p.V871A|EPB41L3_uc002kmu.1_Missense_Mutation_p.V818A|EPB41L3_uc010dkq.1_Missense_Mutation_p.V709A|EPB41L3_uc002kms.1_Missense_Mutation_p.V275A|EPB41L3_uc010wze.1_Missense_Mutation_p.V345A|EPB41L3_uc010wzf.1_Missense_Mutation_p.V337A|EPB41L3_uc010wzg.1_Missense_Mutation_p.V312A|EPB41L3_uc010dkr.2_Missense_Mutation_p.V432A	NM_012307	NP_036439	Q9Y2J2	E41L3_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1-like 3 (EPB41L3), mRNA.	1040	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CCCCGTGATGACTATTCGCTT	0.448													G	5395100	A	G	5395100	3	3	223	1	0	0	0	0	1	0	0	0	5195	275	10	3	152	3	EPB41L3	18	5395100	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08		5395100	72682148	74	15344											
MC5R	4161	broad.mit.edu	37	chr18	13826447	13826447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcccggggccagctctgCgcggcagaggaccagcatgc	6	5	15	15	3	2	1	0	0	2	1	2	2	2	2	3	4	5	3	3	4	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:13826447C>T	uc010xaf.2	+	0	905	c.683C>T	c.(682-684)gCg>gTg	p.A228V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	228				ALPGASSARQRTSM -> LCPGPALRGRGPAW (in Ref. 1).	G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding	p.A228T(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCCAGCTCTGCGCGGCAGAGG	0.612													T	13826447	C	T	13826447	3	4	223	1	0	0	0	0	1	0	0	0	9442	768	27	1	685	1	MC5R	18	13826447	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	8431347	13826447	64250801	75	15345											
CDH19	28513	broad.mit.edu	37	chr18	64218345	64218345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttactttctttaaatataGgcttattgtcattaacatct	12	19	3	7	0	3	0	1	0	2	0	3	0	3	0	0	1	2	1	0	1	7	9			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr18:64218345G>A	uc002lkc.1	-	4	899	c.761C>T	c.(760-762)cCt>cTt	p.P254L	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_Missense_Mutation_p.P254L|CDH19_uc002lkd.3_Missense_Mutation_p.P254L	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	254	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTTAAATATAGGCTTATTGTC	0.294													A	64218345	G	A	64218345	3	1	223	1	0	0	0	0	1	0	0	0	3134	1000	35	2	1589	2	CDH19	18	64218345	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	50391898	64218345	13858903	76	15346											
NFIX	4784	broad.mit.edu	37	chr19	13189498	13189498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcagggcagctccccgCgcatggctttcacccaccac	6	7	8	20	2	2	0	2	0	1	0	4	0	3	0	5	2	1	4	5	2	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:13189498C>T	uc010xmx.2	+	6	1104	c.1051C>T	c.(1051-1053)Cgc>Tgc	p.R351C	NFIX_uc002mwd.3_Missense_Mutation_p.R343C|NFIX_uc002mwe.3_Missense_Mutation_p.R335C|NFIX_uc002mwf.3_Intron|NFIX_uc002mwg.2_Missense_Mutation_p.R342C			Q14938	NFIX_HUMAN	Homo sapiens nuclear factor I/X (CCAAT-binding transcription factor) (NFIX), mRNA.	343					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CAGCTCCCCGCGCATGGCTTT	0.642													T	13189498	C	T	13189498	3	4	223	1	0	0	0	0	1	0	0	0	10450	768	27	1	1053	1	NFIX	19	13189498	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08		13189498	45939485	77	15347											
CYP4F22	126410	broad.mit.edu	37	chr19	15648390	15648390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaagtggagccggcacCgtcgcctgctgacacccgcc	7	5	13	16	4	0	2	0	2	0	0	1	3	0	3	5	2	2	2	5	2	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:15648390C>T	uc002nbh.4	+	5	633	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	156						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen	p.R156L(1)		endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						GAGCCGGCACCGTCGCCTGCT	0.542													T	15648390	C	T	15648390	3	4	223	1	0	0	0	0	1	0	0	0	4222	652	23	1	480	1	CYP4F22	19	15648390	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	2458892	15648390	43480593	78	15348											
UPF1	5976	broad.mit.edu	37	chr19	18968250	18968250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcatccggcccatccGcctgcaggtccagtaccgga	6	6	13	16	3	0	0	0	0	0	0	3	1	3	1	6	4	2	4	6	4	1	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:18968250G>A	uc002nkg.3	+	14	2398	c.2123G>A	c.(2122-2124)cGc>cAc	p.R708H	UPF1_uc002nkf.3_Missense_Mutation_p.R697H|UPF1_uc002nkh.3_5'Flank	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	708					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGGCCCATCCGCCTGCAGGTC	0.642													A	18968250	G	A	18968250	3	1	223	1	0	0	0	0	1	0	0	0	17105	1087	38	1	2148	1	UPF1	19	18968250	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	3319860	18968250	40160733	79	15349											
ATP13A1	57130	broad.mit.edu	37	chr19	19758484	19758484	+	Frame_Shift_Del	DEL	C	C	-																															tcctggaggtggctctgatgCcactgttgctcagggttggg																										TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:19758484delC	uc002nnh.4	-	19	2745	c.2717delG	c.(2716-2718)ggcfs	p.G906fs	ATP13A1_uc002nne.3_Frame_Shift_Del_p.G46fs|ATP13A1_uc002nnf.4_Frame_Shift_Del_p.G274fs|ATP13A1_uc002nng.3_Frame_Shift_Del_p.G788fs	NM_020410	NP_065143	Q9HD20	AT131_HUMAN	Homo sapiens ATPase type 13A1 (ATP13A1), mRNA.	906					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTCTGATGCCACTGTTGCT	0.697													-	19758484	C	-	19758484	7	5	223	1	0	1	0	1	0	0	0	0	1128	739	26	0	925	0	ATP13A1	19	19758484	Frame_Shift_Del	DEL	C	TCGA-32-1979-01A-01D-1696-08	790234	19758484	39370499	80	15350											
ZNF676	163223	broad.mit.edu	37	chr19	22363727	22363727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtattaagggttgagacGctactaaatcctttgccaca	11	13	9	8	1	0	1	0	1	0	1	1	2	1	1	2	1	2	3	2	1	5	6			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:22363727G>A	uc002nqs.1	-	2	1110	c.792C>T	c.(790-792)agC>agT	p.S264S		NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN	Homo sapiens zinc finger protein 676 (ZNF676), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GGGTTGAGACGCTACTAAATC	0.398													A	22363727	G	A	22363727	2	1	223	1	0	0	0	0	0	0	0	1	18184	1078	38	1		1	ZNF676	19	22363727	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	2605243	22363727	36765256	81	15351											
FAM187B	148109	broad.mit.edu	37	chr19	35719014	35719014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagctcaggccgcaagcgGctagaccacaccagcacctc	10	4	10	17	2	1	1	1	0	0	1	2	1	1	1	4	2	4	5	4	2	2	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:35719014G>A	uc002nyk.1	-	0	615	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_152481	NP_689694	Q17R55	F187B_HUMAN	Homo sapiens family with sequence similarity 187, member B (FAM187B), mRNA.	190						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCGCAAGCGGCTAGACCACA	0.577													A	35719014	G	A	35719014	2	1	223	1	0	0	0	0	0	0	0	1	5559	1194	42	2		2	FAM187B	19	35719014	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	13355287	35719014	23409969	82	15352											
RYR1	6261	broad.mit.edu	37	chr19	39051893	39051893	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgcgacatcggcttcaaCgtggcggtgctgctgaccaa	8	7	13	13	5	1	1	1	1	0	0	2	2	1	1	1	3	3	4	1	3	2	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:39051893C>T	uc002oit.3	+	89	12553	c.12423C>T	c.(12421-12423)aaC>aaT	p.N4141N	RYR1_uc002oiu.3_Silent_p.N4136N|RYR1_uc002oiv.1_Silent_p.N1050N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	4141					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCGGCTTCAACGTGGCGGTGC	0.592													T	39051893	C	T	39051893	2	4	223	1	0	0	0	0	0	0	0	1	13859	535	19	1		1	RYR1	19	39051893	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	3332879	39051893	20077090	83	15353											
CYP2B6	1555	broad.mit.edu	37	chr19	41512823	41512823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctaggggccctcatggaCcccaccttcctcttccagtc	5	11	7	18	0	2	0	1	0	1	0	6	1	5	1	7	3	0	0	7	3	1	4			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:41512823C>T	uc002opr.1	+	3	505	c.498C>T	c.(496-498)gaC>gaT	p.D166D	CYP2A7_uc002opo.3_Intron|CYP2B6_uc010xvu.1_Intron	NM_000767	NP_000758	P20813	CP2B6_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily B, polypeptide 6 (CYP2B6), mRNA.	166					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	CCCTCATGGACCCCACCTTCC	0.512													T	41512823	C	T	41512823	2	4	223	1	0	0	0	0	0	0	0	1	4197	506	18	2		2	CYP2B6	19	41512823	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	2460930	41512823	17616160	84	15354											
MYH14	79784	broad.mit.edu	37	chr19	50812362	50812362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgccggaggctgcagcGtgagctggaagatgtcacag	8	5	17	11	4	1	2	1	1	0	1	1	4	1	4	2	4	3	3	2	4	1	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:50812362G>A	uc010enu.1	+	41	5935	c.5888G>A	c.(5887-5889)cGt>cAt	p.R1963H	MYH14_uc002prq.1_Missense_Mutation_p.R1930H|MYH14_uc002prr.1_Missense_Mutation_p.R1922H|MYH14_uc010ycb.2_Missense_Mutation_p.R273H|MYH14_uc002prs.1_Missense_Mutation_p.R273H	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	1922					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AGGCTGCAGCGTGAGCTGGAA	0.632													A	50812362	G	A	50812362	3	1	223	1	0	0	0	0	1	0	0	0	10109	1145	40	1	6050	1	MYH14	19	50812362	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9299539	50812362	8316621	85	15355											
ZNF135	7694	broad.mit.edu	37	chr19	58579130	58579130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagagcacactcctgacCgagcatcggaggattcacac	12	6	10	13	2	2	2	2	1	0	1	4	5	3	4	2	2	2	2	2	2	0	1	rs141591921		TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr19:58579130C>T	uc002qrg.3	+	3	1353	c.1350C>T	c.(1348-1350)acC>acT	p.T450T	ZNF135_uc002qre.3_Silent_p.T426T|ZNF135_uc002qrf.3_Silent_p.T384T|ZNF135_uc010yhq.2_Silent_p.T438T|ZNF135_uc010yhr.2_Silent_p.T247T|ZNF135_uc002qrd.2_Intron|ZNF135_uc021vcu.1_3'UTR	NM_007134	NP_009065	B4DHH9	B4DHH9_HUMAN	Homo sapiens zinc finger protein 135 (ZNF135), transcript variant 1, mRNA.	438					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.T426T(1)|p.T450T(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		CACTCCTGACCGAGCATCGGA	0.547													T	58579130	C	T	58579130	2	4	223	1	0	0	0	0	0	0	0	1	17826	639	23	1		1	ZNF135	19	58579130	Silent	SNP	C	TCGA-32-1979-01A-01D-1696-08	7766768	58579130	549853	86	15356											
RSPO4	343637	broad.mit.edu	37	chr20	944738	944738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgcaggggctccagccGccccagggacccagttcaca	7	6	13	15	1	1	0	1	0	0	0	2	1	2	1	5	3	2	3	5	3	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:944738G>A	uc002wej.3	-	3	535	c.435C>T	c.(433-435)ggC>ggT	p.G145G	RSPO4_uc002wek.3_Intron	NM_001029871	NP_001025042	Q2I0M5	RSPO4_HUMAN	Homo sapiens R-spondin 4 (RSPO4), transcript variant 1, mRNA.	145	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding	p.G145G(2)		endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGCTCCAGCCGCCCCAGGGAC	0.652													A	944738	G	A	944738	2	1	223	1	0	0	0	0	0	0	0	1	13803	1074	38	1		1	RSPO4	20	944738	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		944738	62080782	87	15357											
FAM83C	128876	broad.mit.edu	37	chr20	33880014	33880014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcggtgagctctcccGccaccacggcagcttcagct	7	6	10	18	3	2	1	1	1	1	0	3	1	2	1	4	2	4	4	4	2	0	1			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:33880014G>A	uc021wck.1	-	0	212	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W	FAM83C_uc002xcb.1_5'UTR	NM_178468	NP_848563	Q9BQN1	FA83C_HUMAN	Homo sapiens family with sequence similarity 83, member C (FAM83C), mRNA.	32								p.R32R(1)		central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GAGCTCTCCCGCCACCACGGC	0.746													A	33880014	G	A	33880014	3	1	223	1	0	0	0	0	1	0	0	0	5685	1086	38	1	2165	1	FAM83C	20	33880014	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	32935276	33880014	29145506	88	15358											
HNF4A	3172	broad.mit.edu	37	chr20	43052742	43052742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggactacatcaacgaccGccagtatgactcgcgtggcc	10	6	12	13	4	1	1	1	1	0	0	2	4	1	3	3	3	2	1	3	3	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43052742G>A	uc002xma.3	+	7	1066	c.977G>A	c.(976-978)cGc>cAc	p.R326H	HNF4A_uc002xlt.3_Missense_Mutation_p.R304H|HNF4A_uc002xlu.3_Missense_Mutation_p.R304H|HNF4A_uc002xlv.3_Missense_Mutation_p.R304H|HNF4A_uc002xly.3_Missense_Mutation_p.R326H|HNF4A_uc010ggq.3_Missense_Mutation_p.R319H|HNF4A_uc002xlz.3_Missense_Mutation_p.R326H	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	326					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATCAACGACCGCCAGTATGAC	0.582													A	43052742	G	A	43052742	3	1	223	1	0	0	0	0	1	0	0	0	7308	1087	38	1	1060	1	HNF4A	20	43052742	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08	9172728	43052742	19972778	89	15359											
SEMG2	6406	broad.mit.edu	37	chr20	43837052	43837052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagaaagatgtatcccaaCgcagtatttatagccaaact	15	10	7	9	1	0	2	0	0	0	2	1	2	1	2	2	0	4	4	2	0	7	5			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr20:43837052C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R372C|SEMG2_uc002xnj.2_Missense_Mutation_p.R312C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				TGTATCCCAACGCAGTATTTA	0.418													T	43837052	C	T	43837052	3	4	223	1	0	0	0	0	1	0	0	0	14138	536	19	1		1	SEMG2	20	43837052	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	784310	43837052	19188468	90	15360											
CBR1	873	broad.mit.edu	37	chr21	37442646	37442646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccctgcgcgacttcctgcGcaaggagtacgggggcctgg	5	6	16	14	5	0	0	0	0	0	0	1	2	1	1	3	4	3	2	3	4	2	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:37442646G>A	uc002yvb.1	+	0	362	c.233G>A	c.(232-234)cGc>cAc	p.R78H	LOC100133286_uc011aea.1_Non-coding_Transcript|SETD4_uc002yva.3_Intron|CBR1_uc010gmx.1_Missense_Mutation_p.R78H|CBR1_uc010gmy.1_Missense_Mutation_p.R78H	NM_001757	NP_001748	P16152	CBR1_HUMAN	Homo sapiens carbonyl reductase 1 (CBR1), mRNA.	78					drug metabolic process|vitamin K metabolic process	cytoplasm	15-hydroxyprostaglandin dehydrogenase (NADP+) activity|carbonyl reductase (NADPH) activity|prostaglandin-E2 9-reductase activity|protein binding			endometrium(2)|kidney(3)	5					Acetohexamide(DB00414)|Lubiprostone(DB01046)	GACTTCCTGCGCAAGGAGTAC	0.672													A	37442646	G	A	37442646	3	1	223	1	0	0	0	0	1	0	0	0	2734	1087	38	1	235	1	CBR1	21	37442646	Missense_Mutation	SNP	G	TCGA-32-1979-01A-01D-1696-08		37442646	10687249	91	15361											
RIPK4	54101	broad.mit.edu	37	chr21	43161157	43161157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgctgagcccctgctcGtcgaacaggtcaatgacatc	9	7	11	14	4	1	2	1	2	0	0	4	3	1	2	2	1	4	2	2	1	2	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:43161157G>A	uc002yzn.1	-	7	2244	c.2196C>T	c.(2194-2196)gaC>gaT	p.D732D		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	732						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCCCTGCTCGTCGAACAGGT	0.692													A	43161157	G	A	43161157	2	1	223	1	0	0	0	0	0	0	0	1	13474	1136	40	1		1	RIPK4	21	43161157	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	5718511	43161157	4968738	92	15362											
C21orf58	54058	broad.mit.edu	37	chr21	47738114	47738114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgttgcctgcagggcgggCcttacctcctggagaccagc	5	8	15	13	1	0	1	0	0	0	1	1	2	1	1	5	4	4	2	5	4	1	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47738114C>A	uc002zjf.3	-	1	1254	c.121G>T	c.(121-123)Gcc>Tcc	p.A41S	C21orf58_uc002ziz.3_5'UTR|C21orf58_uc002zja.3_5'UTR|C21orf58_uc002zjc.3_5'UTR|C21orf58_uc011afx.2_5'UTR|C21orf58_uc010gqj.2_Non-coding_Transcript|C21orf58_uc002zjg.1_Non-coding_Transcript	NM_058180	NP_478060	P58505	CU058_HUMAN	Homo sapiens chromosome 21 open reading frame 58 (C21orf58), mRNA.	41										breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(1)|pancreas(1)	9	Breast(49;0.112)			Colorectal(79;0.239)		GCAGGGCGGGCCTTACCTCCT	0.652													A	47738114	C	A	47738114	3	1	223	1	0	0	0	0	1	0	0	0	2150	739	26	4	875	4	C21orf58	21	47738114	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	4576957	47738114	391781	93	15363											
DIP2A	23181	broad.mit.edu	37	chr21	47954567	47954567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccctgctggcacagtgcCgggctctgacccaggcgtgc	5	7	13	16	2	1	1	0	1	1	0	2	1	2	1	3	3	3	3	3	3	0	0			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chr21:47954567C>T	uc002zjo.2	+	12	1792	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	DIP2A_uc011afy.1_Missense_Mutation_p.R473W|DIP2A_uc011afz.1_Missense_Mutation_p.R533W|DIP2A_uc002zjl.3_Missense_Mutation_p.R537W|DIP2A_uc002zjm.3_Missense_Mutation_p.R537W|DIP2A_uc010gql.3_Missense_Mutation_p.R494W|DIP2A_uc002zjn.3_Missense_Mutation_p.R537W|DIP2A_uc002zjp.1_Missense_Mutation_p.R282W|Metazoa_SRP_uc021wkb.1_5'Flank	NM_015151	NP_055966	Q14689	DIP2A_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog A (Drosophila) (DIP2A), transcript variant 1, mRNA.	537					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCACAGTGCCGGGCTCTGAC	0.562													T	47954567	C	T	47954567	3	4	223	1	0	0	0	0	1	0	0	0	4566	643	23	1	1659	1	DIP2A	21	47954567	Missense_Mutation	SNP	C	TCGA-32-1979-01A-01D-1696-08	216453	47954567	175328	94	15364											
ZMYM3	9203	broad.mit.edu	37	chrX	70469493	70469493	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaatcgctgcagagccGgtgtaccacgctgccattgc	9	7	12	13	3	0	2	0	0	0	2	1	2	0	2	3	1	5	5	3	1	3	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:70469493G>T	uc004dzh.2	-	6	1467	c.1288C>A	c.(1288-1290)Cgg>Agg	p.R430R	BCYRN1_uc011mpt.1_Intron|ZMYM3_uc004dzi.2_Silent_p.R430R|ZMYM3_uc004dzj.2_Silent_p.R430R|ZMYM3_uc011mpu.2_Silent_p.R161R|ZMYM3_uc004dzl.4_Silent_p.R430R	NM_201599	NP_963893	Q14202	ZMYM3_HUMAN	Homo sapiens zinc finger, MYM-type 3 (ZMYM3), transcript variant 1, mRNA.	430					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.H429P(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTGCAGAGCCGGTGTACCACG	0.587													T	70469493	G	T	70469493	2	4	223	1	0	0	0	0	0	0	0	1	17802	1115	39	4		4	ZMYM3	23	70469493	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08		70469493	84801067	95	15365											
COL4A6	1288	broad.mit.edu	37	chrX	107431199	107431199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattccttggattgtactgAgaattggttcccccttcttt	6	17	8	10	0	1	1	0	1	1	1	3	3	3	2	3	2	1	3	3	2	2	8			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:107431199A>T	uc004enw.4	-	21	1752	c.1649T>A	c.(1648-1650)cTc>cAc	p.L550H	COL4A6_uc004env.4_Missense_Mutation_p.L549H|COL4A6_uc011msn.2_Missense_Mutation_p.L549H|COL4A6_uc010npk.3_Missense_Mutation_p.L549H	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	550	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding	p.L549I(2)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GATTGTACTGAGAATTGGTTC	0.512									Alport syndrome with Diffuse Leiomyomatosis				T	107431199	A	T	107431199	3	4	223	1	0	0	0	0	1	0	0	0	3726	304	11	5	3522	5	COL4A6	23	107431199	Missense_Mutation	SNP	A	TCGA-32-1979-01A-01D-1696-08	36961706	107431199	47839361	96	15366											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685359	125685359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccagaaatcattgtggttGagccagcctctgccacaggc	10	8	10	13	0	2	2	1	1	1	1	2	2	2	2	4	2	3	1	4	2	1	2			TCGA-32-1979-01A-01D-1696-08	TCGA-32-1979-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c81ebb9-20a6-40c1-9be2-17b99517e988	26bc13cd-9304-4181-b19a-9d1134ed6253	g.chrX:125685359G>A	uc022cds.1	-	0	1233	c.1233C>T	c.(1231-1233)ctC>ctT	p.L411L	DCAF12L1_uc004eul.3_Silent_p.L411L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	411										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CATTGTGGTTGAGCCAGCCTC	0.552													A	125685359	G	A	125685359	2	1	223	1	0	0	0	0	0	0	0	1	4298	1277	45	2		2	DCAF12L1	23	125685359	Silent	SNP	G	TCGA-32-1979-01A-01D-1696-08	18254160	125685359	29585201	97	15367											
USH2A	7399	broad.mit.edu	37	chr1	215820917	215820917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccgtactgcccacctcgTtgtgtgccaccactctcagc	7	9	8	17	2	1	0	1	0	1	0	3	0	1	0	5	0	5	2	5	0	2	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:215820917T>C	uc001hku.1	-	66	15125	c.14738A>G	c.(14737-14739)aAc>aGc	p.N4913S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4913	Fibronectin type-III 34.				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)		GCCCACCTCGTTGTGTGCCAC	0.532										HNSCC(13;0.011)			C	215820917	T	C	215820917	3	2	224	1	0	0	0	0	1	0	0	0	17138	1725	60	3	894	3	USH2A	1	215820917	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08		215820917	33429704	1	15368											
TAF1A	9015	broad.mit.edu	37	chr1	222761835	222761835	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatgcattcctgcaccaCtgagcacagatgtttccact	12	10	7	12	0	0	2	0	1	0	1	2	3	2	2	3	0	3	4	3	0	2	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr1:222761835C>G	uc009xdz.2	-	1	280	c.71G>C	c.(70-72)aGt>aCt	p.S24T	TAF1A_uc001hni.2_5'UTR|TAF1A_uc001hnj.3_Missense_Mutation_p.S24T|TAF1A_uc010pur.2_Missense_Mutation_p.S24T	NM_001201536	NP_001188465	Q15573	TAF1A_HUMAN	Homo sapiens TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa (TAF1A), transcript variant 3, mRNA.	24					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TCCTGCACCACTGAGCACAGA	0.373													G	222761835	C	G	222761835	3	3	224	1	0	0	0	0	1	0	0	0	15616	565	20	4	1321	4	TAF1A	1	222761835	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	6940918	222761835	26488786	2	15369											
TTN	7273	broad.mit.edu	37	chr2	179640164	179640164	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgctggcagagtcctcagCagtcacatctcttatgacca	10	10	9	12	0	3	2	2	1	1	1	5	3	4	2	2	1	2	3	2	1	1	1			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr2:179640164C>G	uc021vsy.1	-	27	6652	c.6427G>C	c.(6427-6429)Gct>Cct	p.A2143P	TTN_uc021vsz.1_Missense_Mutation_p.A2097P|TTN_uc021vta.1_Missense_Mutation_p.A2097P|TTN_uc021vtb.1_Missense_Mutation_p.A2097P|TTN_uc002unb.2_Missense_Mutation_p.A2143P|AK123298_uc002unc.1_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	2143	Ig-like 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGTCCTCAGCAGTCACATCT	0.443													G	179640164	C	G	179640164	3	3	224	1	0	0	0	0	1	0	0	0	16837	710	25	4	104901	4	TTN	2	179640164	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		179640164	63559209	3	15370											
BCL6	604	broad.mit.edu	37	chr3	187447774	187447774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgttgaggaactcttcaCgaggaggcttgatggcagaa	10	9	15	7	1	2	3	1	2	1	1	2	6	2	5	0	5	1	4	0	5	2	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr3:187447774C>T	uc003frp.3	-	4	876	c.419G>A	c.(418-420)cGt>cAt	p.R140H	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.R140H|BCL6_uc010hza.2_Missense_Mutation_p.R38H|BCL6_uc003frq.2_Missense_Mutation_p.R140H	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	140					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GAACTCTTCACGAGGAGGCTT	0.522			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								T	187447774	C	T	187447774	3	4	224	1	0	0	0	0	1	0	0	0	1381	536	19	1	1725	1	BCL6	3	187447774	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		187447774	10574656	4	15371											
REST	5978	broad.mit.edu	37	chr4	57777086	57777086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaaggagaaggacttgaAgagtctgctgatataaaagg	17	7	14	3	0	1	5	0	2	1	3	1	8	1	6	0	3	1	1	0	3	7	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:57777086A>G	uc003hch.3	+	1	629	c.282A>G	c.(280-282)gaA>gaG	p.E94E	REST_uc003hci.3_Silent_p.E94E|REST_uc003hcj.1_Silent_p.E94E|REST_uc010ihf.3_5'UTR	NM_005612	NP_005603	Q13127	REST_HUMAN	Homo sapiens RE1-silencing transcription factor (REST), transcript variant 1, mRNA.	94	Interaction with SIN3A.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AAGGACTTGAAGAGTCTGCTG	0.458													G	57777086	A	G	57777086	2	3	224	1	0	0	0	0	0	0	0	1	13322	69	3	3		3	REST	4	57777086	Silent	SNP	A	TCGA-32-1980-01A-01D-1696-08		57777086	133377190	5	15372											
SPARCL1	8404	broad.mit.edu	37	chr4	88415064	88415064	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctaggccagttttaccctcTtgactctgccattcagtttc	6	16	6	13	0	4	1	1	1	3	0	5	1	4	1	3	1	2	2	3	1	2	6			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:88415064T>C	uc010ikm.3	-	4	1460	c.888A>G	c.(886-888)caA>caG	p.Q296Q	SPARCL1_uc011cdc.2_Silent_p.Q171Q|SPARCL1_uc003hqs.4_Silent_p.Q296Q|SPARCL1_uc011cdd.2_Silent_p.Q171Q	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	296					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTACCCTCTTGACTCTGCC	0.418													C	88415064	T	C	88415064	2	2	224	1	0	0	0	0	0	0	0	1	15092	1606	56	3		3	SPARCL1	4	88415064	Silent	SNP	T	TCGA-32-1980-01A-01D-1696-08	30637978	88415064	102739212	6	15373											
FAT4	79633	broad.mit.edu	37	chr4	126337603	126337603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtatgtactgttctacagGtggtggcaagagatgatgat	10	13	14	4	0	1	3	0	2	1	1	1	4	1	3	0	4	2	4	0	4	4	4			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr4:126337603G>A	uc003ifj.4	+	6	6844	c.6844_splice	c.e6-1	p.V2282_splice	FAT4_uc011cgp.2_Splice_Site_p.V580_splice	NM_024582	NP_078858	Q6V0I7	FAT4_HUMAN	Homo sapiens FAT tumor suppressor homolog 4 (Drosophila) (FAT4), mRNA.	2282	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TGTTCTACAGGTGGTGGCAAG	0.368													A	126337603	G	A	126337603	3	1	224	1	0	0	0	0	1	0	0	0	5741	1275	44	2	6866	2	FAT4	4	126337603	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08	37922539	126337603	64816673	7	15374											
NHLRC1	378884	broad.mit.edu	37	chr6	18122155	18122155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcatcagttaccacaatcCcattctgaggggtggtctcc	8	10	9	14	1	3	1	1	1	2	0	5	1	4	1	4	3	1	2	4	3	2	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr6:18122155C>T	uc003ncl.1	-	0	697	c.683G>A	c.(682-684)gGg>gAg	p.G228E		NM_198586	NP_940988	Q6VVB1	NHLC1_HUMAN	Homo sapiens NHL repeat containing 1 (NHLRC1), mRNA.	228					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			TACCACAATCCCATTCTGAGG	0.532													T	18122155	C	T	18122155	3	4	224	1	0	0	0	0	1	0	0	0	10481	623	22	2	508	2	NHLRC1	6	18122155	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		18122155	152992912	8	15375											
OR9A4	130075	broad.mit.edu	37	chr7	141619469	141619469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacgtgaaacccaagcaaaCgcaggcagctgattacaatt	15	7	8	11	2	0	2	0	2	0	0	0	2	0	2	1	1	6	4	1	1	6	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr7:141619469C>T	uc003vwu.1	+	0	794	c.794C>T	c.(793-795)aCg>aTg	p.T265M		NM_001001656	NP_001001656	Q8NGU2	OR9A4_HUMAN	Homo sapiens olfactory receptor, family 9, subfamily A, member 4 (OR9A4), mRNA.	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					CCCAAGCAAACGCAGGCAGCT	0.478													T	141619469	C	T	141619469	3	4	224	1	0	0	0	0	1	0	0	0	11325	536	19	1	796	1	OR9A4	7	141619469	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		141619469	17519194	9	15376											
ZNF782	158431	broad.mit.edu	37	chr9	99581330	99581330	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgagttctctgatgcactggGagggttgaattacggttgaa	9	13	14	5	1	1	4	0	4	1	0	2	5	1	5	0	3	2	4	0	3	3	4			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr9:99581330G>C	uc004awp.1	-	5	1256	c.975C>G	c.(973-975)ctC>ctG	p.L325L	ZNF782_uc011lup.1_Silent_p.L193L	NM_001001662	NP_001001662	Q6ZMW2	ZN782_HUMAN	Homo sapiens zinc finger protein 782 (ZNF782), mRNA.	325					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GATGCACTGGGAGGGTTGAAT	0.398													C	99581330	G	C	99581330	2	2	224	1	0	0	0	0	0	0	0	1	18254	1161	41	4		4	ZNF782	9	99581330	Silent	SNP	G	TCGA-32-1980-01A-01D-1696-08		99581330	41632101	10	15377											
LGALS12	85329	broad.mit.edu	37	chr11	63273794	63273794	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctccagacagcattaaaaCgctgcaggtcgcaggtgaga	12	7	12	10	2	0	2	0	1	0	2	2	3	1	2	1	2	4	5	1	2	2	1			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr11:63273794C>T	uc001nxc.2	+	0					LGALS12_uc001nxa.2_5'UTR|LGALS12_uc001nxb.2_5'UTR|LGALS12_uc001nxd.2_5'Flank|LGALS12_uc001nxe.2_5'Flank|LGALS12_uc009yot.2_5'Flank	NM_001142535	NP_001136007	Q96DT0	LEG12_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 12 (LGALS12), transcript variant 1, mRNA.						apoptosis|induction of apoptosis by intracellular signals	nucleus	lactose binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	16						AGCATTAAAACGCTGCAGGTC	0.637													T	63273794	C	T	63273794	1	4	224	1	0	0	0	0	0	0	0	0	8798	551	19	1		1	LGALS12	11	63273794	Translation_Start_Site	SNP	C	TCGA-32-1980-01A-01D-1696-08		63273794	71732722	11	15378											
ARCN1	372	broad.mit.edu	37	chr11	118461139	118461139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggagttgcatggcatgaTcatgcttaggatctcagatg	10	13	12	6	0	2	2	2	1	1	1	3	4	2	4	0	3	2	4	0	3	2	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr11:118461139T>A	uc009zag.3	+	6	1227	c.1025T>A	c.(1024-1026)aTc>aAc	p.I342N	ARCN1_uc001ptq.3_Missense_Mutation_p.I301N|ARCN1_uc010ryg.2_Missense_Mutation_p.I213N	NM_001142281	NP_001135753	P48444	COPD_HUMAN	Homo sapiens archain 1 (ARCN1), transcript variant 2, mRNA.	301	MHD.				COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CATGGCATGATCATGCTTAGG	0.393													A	118461139	T	A	118461139	3	1	224	1	0	0	0	0	1	0	0	0	845	1435	50	5	924	5	ARCN1	11	118461139	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08	55187345	118461139	16545377	12	15379											
KIF21A	55605	broad.mit.edu	37	chr12	39716483	39716483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttacatgctgcctatctTagaaggtaagccaggtgggg	11	10	12	8	0	1	1	0	0	1	1	1	1	1	1	2	4	5	2	2	4	6	4	rs147620197		TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr12:39716483T>C	uc001rly.3	-	26	4078	c.3658A>G	c.(3658-3660)Aag>Gag	p.K1220E	KIF21A_uc001rlv.3_Missense_Mutation_p.K225E|KIF21A_uc001rlw.3_Missense_Mutation_p.K537E|KIF21A_uc001rlx.3_Missense_Mutation_p.K1207E|KIF21A_uc001rlz.3_Missense_Mutation_p.K1184E|KIF21A_uc010skl.2_Missense_Mutation_p.K1200E	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	1220					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				CTGCCTATCTTAGAAGGTAAG	0.398													C	39716483	T	C	39716483	3	2	224	1	0	0	0	0	1	0	0	0	8346	1763	61	3	1414	3	KIF21A	12	39716483	Missense_Mutation	SNP	T	TCGA-32-1980-01A-01D-1696-08		39716483	94135412	13	15380											
F10	2159	broad.mit.edu	37	chr13	113803697	113803697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggagagggctgtgccCgtaaggggaagtacgggatc	8	6	20	7	2	0	1	0	0	0	1	1	4	0	3	1	6	2	4	1	6	3	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr13:113803697C>T	uc001vsx.3	+	7	1390	c.1333C>T	c.(1333-1335)Cgt>Tgt	p.R445C	F10_uc001vsy.3_3'UTR	NM_000504	NP_000495	P00742	FA10_HUMAN	Homo sapiens coagulation factor X (F10), mRNA.	445	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGCTGTGCCCGTAAGGGGAA	0.627													T	113803697	C	T	113803697	3	4	224	1	0	0	0	0	1	0	0	0	5378	652	23	1	1363	1	F10	13	113803697	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08		113803697	1366181	14	15381											
CFL2	1073	broad.mit.edu	37	chr14	35182132	35182132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatttctctccaagtgtcGaacggtccttaatatcatcc	10	13	5	13	2	2	0	1	0	1	0	7	1	5	0	4	1	1	0	4	1	5	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr14:35182132G>A	uc001wsh.3	-	3	723	c.440C>T	c.(439-441)tCg>tTg	p.S147L	CFL2_uc001wsg.3_Missense_Mutation_p.S147L|CFL2_uc010tpn.1_Missense_Mutation_p.S130L|CFL2_uc001wsi.3_Non-coding_Transcript|CFL2_uc001wsj.3_Non-coding_Transcript	NM_138638	NP_001230574	Q9Y281	COF2_HUMAN	Homo sapiens cofilin 2 (muscle) (CFL2), transcript variant 2, mRNA.	147	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding	p.R146C(1)		breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		TCCAAGTGTCGAACGGTCCTT	0.338													A	35182132	G	A	35182132	3	1	224	1	0	0	0	0	1	0	0	0	3321	1059	37	1	64	1	CFL2	14	35182132	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		35182132	72167408	15	15382											
NF1	4763	broad.mit.edu	37	chr17	29663349	29663349	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttattttccttcttcaactAgattacagatctgcttgatg	9	18	6	8	0	3	3	1	1	2	2	4	3	4	3	1	0	3	2	1	0	4	8			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr17:29663349A>G	uc002hgg.3	+	41	6390	c.6007_splice	c.e41-2	p.I2003_splice	NF1_uc002hgh.3_Splice_Site_p.I1982_splice|NF1_uc010cso.3_Splice_Site_p.I191_splice|NF1_uc010wbt.1_5'Flank|NF1_uc010wbu.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2003					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTTCAACTAGATTACAGAT	0.323			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29663349	A	G	29663349	5	3	224	1	0	0	0	0	0	0	1	0	10432	434	15	3	6228	3	NF1	17	29663349	Splice_Site	SNP	A	TCGA-32-1980-01A-01D-1696-08		29663349	51531861	16	15383											
MUC16	94025	broad.mit.edu	37	chr19	9075072	9075072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatgtaaatctctgagtcGtagccagtggagtccctgtc	9	12	11	9	1	1	1	0	1	1	0	5	2	2	2	2	1	1	3	2	1	4	3			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:9075072G>A	uc002mkp.3	-	2	12578	c.12374C>T	c.(12373-12375)aCg>aTg	p.T4125M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	4127	Ser-rich.|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						TCTCTGAGTCGTAGCCAGTGG	0.502													A	9075072	G	A	9075072	3	1	224	1	0	0	0	0	1	0	0	0	10049	1145	40	1	31477	1	MUC16	19	9075072	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		9075072	50053911	17	15384											
YJEFN3	51079	broad.mit.edu	37	chr19	19645858	19645858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaggcgttcccgttgcccGctctctcccggaagcagagg	6	7	12	16	4	1	1	0	0	1	1	4	2	3	2	4	3	2	4	4	3	1	2			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:19645858G>A	uc002nmt.2	+	3	406	c.334G>A	c.(334-336)Gct>Act	p.A112T	YJEFN3_uc021uqv.1_3'UTR|YJEFN3_uc021uqw.1_Missense_Mutation_p.A111T|YJEFN3_uc010ecf.2_Missense_Mutation_p.A62T|YJEFN3_uc002nmu.2_Non-coding_Transcript	NM_198537	NP_940939	A6XGL0	YJEN3_HUMAN	Homo sapiens YjeF N-terminal domain containing 3 (YJEFN3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	112	YjeF N-terminal.									NS(1)|breast(1)|lung(3)	5						CCCGTTGCCCGCTCTCTCCCG	0.647													A	19645858	G	A	19645858	3	1	224	1	0	0	0	0	1	0	0	0	17586	1087	38	1	348	1	YJEFN3	19	19645858	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08	10570786	19645858	39483125	18	15385											
RPSA	388524	broad.mit.edu	37	chr19	24010412	24010412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattgcgctgtgtaacaCagattctcctctgcgctatg	8	13	8	12	2	2	1	0	0	2	1	3	1	2	1	2	0	4	3	2	0	3	5			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:24010412C>A	uc002nrn.3	+	3	872	c.449C>A	c.(448-450)aCa>aAa	p.T150K		NM_002295	NP_002286	P08865	RSSA_HUMAN	Homo sapiens ribosomal protein SA (RPSA), transcript variant 1, mRNA.	150					cell adhesion|endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|ribosomal small subunit assembly|rRNA export from nucleus|translational elongation|translational termination|viral transcription	90S preribosome|cytosolic small ribosomal subunit|nucleus|plasma membrane	protein binding|receptor activity|ribosome binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(284;0.0509)|Kidney(284;0.064)		CTGTGTAACACAGATTCTCCT	0.542													A	24010412	C	A	24010412	3	1	224	1	0	0	0	0	1	0	0	0	13754	493	17	4		4	RPSA	19	24010412	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	4364554	24010412	35118571	19	15386											
NLRP4	147945	broad.mit.edu	37	chr19	56379119	56379119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgattgtgaagtccttgCtggccttctaaccaacaaca	11	12	7	11	0	1	2	0	2	1	0	2	2	2	2	3	1	4	1	3	1	4	5			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr19:56379119C>T	uc002qmd.4	+	5	2653	c.2231C>T	c.(2230-2232)gCt>gTt	p.A744V	NLRP4_uc002qmf.3_Missense_Mutation_p.A669V|NLRP4_uc010etf.3_Intron	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	744							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GAAGTCCTTGCTGGCCTTCTA	0.483													T	56379119	C	T	56379119	3	4	224	1	0	0	0	0	1	0	0	0	10555	797	28	2	2249	2	NLRP4	19	56379119	Missense_Mutation	SNP	C	TCGA-32-1980-01A-01D-1696-08	32368707	56379119	2749864	20	15387											
PCNT	5116	broad.mit.edu	37	chr21	47845820	47845820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttgcacccccaagcggcGagccacacccaccccggaag	9	2	10	20	3	0	0	0	0	0	0	0	2	0	1	7	2	3	1	7	2	2	1			TCGA-32-1980-01A-01D-1696-08	TCGA-32-1980-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9b267205-1994-46ff-8d0f-56625dae7c1b	2e957afb-4381-47c2-adc8-a49a224c5edb	g.chr21:47845820G>A	uc002zji.4	+	32	7362	c.7255G>A	c.(7255-7257)Gag>Aag	p.E2419K	PCNT_uc002zjj.3_Missense_Mutation_p.E2301K	NM_006031	NP_006022	O95613	PCNT_HUMAN	Homo sapiens pericentrin (PCNT), mRNA.	2419					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CCCAAGCGGCGAGCCACACCC	0.577													A	47845820	G	A	47845820	3	1	224	1	0	0	0	0	1	0	0	0	11666	1059	37	1	7385	1	PCNT	21	47845820	Missense_Mutation	SNP	G	TCGA-32-1980-01A-01D-1696-08		47845820	284075	21	15388											
MACF1	23499	broad.mit.edu	37	chr1	39750772	39750772	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtgtggattgaatttggCcgaattaaactgcctcaagg	11	11	12	7	1	1	1	1	1	0	0	1	3	1	2	2	4	2	0	2	4	5	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:39750772C>T	uc021olt.1	+	10	1216	c.1164C>T	c.(1162-1164)ggC>ggT	p.G388G	MACF1_uc021ols.1_Silent_p.G388G|MACF1_uc001cdc.2_Silent_p.G388G|MACF1_uc001cda.1_Silent_p.G296G	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	388					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TTGAATTTGGCCGAATTAAAC	0.433													T	39750772	C	T	39750772	2	4	225	1	0	0	0	0	0	0	0	1	9215	726	26	2		2	MACF1	1	39750772	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		39750772	209499849	1	15389											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473561	145473561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcgcagaccgattagggcGcacggcgctcatgcacgctt	8	8	12	13	6	1	1	1	0	0	1	2	2	1	1	1	2	1	5	1	2	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:145473561G>A	uc021ouy.1	+	0	233	c.233G>A	c.(232-234)cGc>cAc	p.R78H	ANKRD34A_uc001enq.1_Missense_Mutation_p.R78H	NM_001039888	NP_001034977	Q69YU3	AN34A_HUMAN	Homo sapiens ankyrin repeat domain 34A (ANKRD34A), mRNA.	78										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CGATTAGGGCGCACGGCGCTC	0.706													A	145473561	G	A	145473561	3	1	225	1	0	0	0	0	1	0	0	0	662	1087	38	1	235	1	ANKRD34A	1	145473561	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	105722789	145473561	103777060	2	15390											
MTMR11	10903	broad.mit.edu	37	chr1	149901667	149901667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaggctttcagaggagaTagcaggtcgagggagccaac	12	5	15	9	1	1	2	1	0	0	2	2	5	1	3	2	4	4	2	2	4	2	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:149901667T>C	uc001etl.4	-	15	2040	c.1789A>G	c.(1789-1791)Atc>Gtc	p.I597V	SF3B4_uc001etk.2_5'Flank|SF3B4_uc009wll.1_5'Flank|MTMR11_uc001etm.2_Missense_Mutation_p.I525V	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	597	Myotubularin phosphatase.						phosphatase activity	p.L597delL(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TCAGAGGAGATAGCAGGTCGA	0.597													C	149901667	T	C	149901667	3	2	225	1	0	0	0	0	1	0	0	0	10016	1406	49	3	387	3	MTMR11	1	149901667	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	4428106	149901667	99348954	3	15391											
LYST	1130	broad.mit.edu	37	chr1	235993676	235993676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaagccggttgacatcGgtcagaaattcacgtgccag	11	9	11	10	3	2	2	2	1	0	1	3	2	2	2	2	2	3	2	2	2	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:235993676G>A	uc001hxj.2	-	2	217	c.42C>T	c.(40-42)acC>acT	p.T14T	LYST_uc009xgb.1_Non-coding_Transcript|LYST_uc010pxs.1_Non-coding_Transcript|LYST_uc001hxl.1_Silent_p.T14T|LYST_uc001hxm.3_Non-coding_Transcript|LYST_uc001hxn.1_Silent_p.T14T	NM_000081	NP_000072	Q99698	LYST_HUMAN	Homo sapiens lysosomal trafficking regulator (LYST), mRNA.	14					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGTTGACATCGGTCAGAAATT	0.458													A	235993676	G	A	235993676	2	1	225	1	0	0	0	0	0	0	0	1	9199	1103	39	1		1	LYST	1	235993676	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	86092009	235993676	13256945	4	15392											
OR2AK2	391191	broad.mit.edu	37	chr1	248128698	248128698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaaaacaggaaatcaaaGttttgggacagattttctac	16	11	8	6	0	2	2	1	1	1	1	2	4	2	4	0	2	2	1	0	2	5	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248128698G>A	uc010pzd.2	+	0	65	c.65G>A	c.(64-66)aGt>aAt	p.S22N	OR2L13_uc001ids.3_Intron	NM_001004491	NP_001004491	Q8NG84	O2AK2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily AK, member 2 (OR2AK2), mRNA.	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S22R(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			GGAAATCAAAGTTTTGGGACA	0.363													A	248128698	G	A	248128698	3	1	225	1	0	0	0	0	1	0	0	0	11062	1029	36	2	67	2	OR2AK2	1	248128698	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	12135022	248128698	1121923	5	15393											
OR2T33	391195	broad.mit.edu	37	chr1	248436720	248436720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacagctgccagctcatgaGagtgggatatcggagtgggt	9	8	16	8	1	1	1	1	1	0	1	2	4	1	3	1	3	3	3	1	3	1	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr1:248436720G>A	uc010pzi.2	-	0	397	c.397C>T	c.(397-399)Ctc>Ttc	p.L133F		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CAGCTCATGAGAGTGGGATAT	0.592													A	248436720	G	A	248436720	3	1	225	1	0	0	0	0	1	0	0	0	11100	942	33	2	568	2	OR2T33	1	248436720	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	308022	248436720	813901	6	15394											
TPO	7173	broad.mit.edu	37	chr2	1544411	1544411	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccatctcggagacaggCggaggaactcccgagctgag	9	5	14	13	3	1	2	0	1	1	1	3	6	2	4	2	4	3	1	2	4	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:1544411C>T	uc002qwr.3	+	15	2750	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Silent_p.G888G|TPO_uc002qwx.3_Silent_p.G831G|TPO_uc002qwu.3_Silent_p.G831G|TPO_uc010yio.2_Silent_p.G715G|TPO_uc010yip.2_Silent_p.G844G|TPO_uc002qwy.1_Silent_p.G184G|TPO_uc002qwz.3_Intron	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	888					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.G888G(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CGGAGACAGGCGGAGGAACTC	0.642													T	1544411	C	T	1544411	2	4	225	1	0	0	0	0	0	0	0	1	16511	755	27	1		1	TPO	2	1544411	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		1544411	241654962	7	15395											
ALLC	55821	broad.mit.edu	37	chr2	3730599	3730599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggaaaccctgcttccgGccacaactattttcttgtca	9	11	7	14	1	2	0	1	0	1	0	3	1	3	1	4	2	3	1	4	2	3	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:3730599G>A	uc010ewt.3	+	6	607	c.446G>A	c.(445-447)gGc>gAc	p.G149D		NM_018436	NP_060906	Q8N6M5	ALLC_HUMAN	Homo sapiens allantoicase (ALLC), transcript variant 1, mRNA.	168							allantoicase activity	p.S148S(1)		breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		CCTGCTTCCGGCCACAACTAT	0.438										HNSCC(21;0.051)			A	3730599	G	A	3730599	3	1	225	1	0	0	0	0	1	0	0	0	534	1203	42	2	468	2	ALLC	2	3730599	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	2186188	3730599	239468774	8	15396											
APOB	338	broad.mit.edu	37	chr2	21256280	21256280	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctctggatattttgctCagagatggttagttttttca	8	18	9	6	0	3	1	2	0	1	1	4	3	3	2	0	2	2	4	0	2	2	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:21256280C>A	uc002red.3	-	8	1143	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	339	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATATTTTGCTCAGAGATGGTT	0.468													A	21256280	C	A	21256280	4	1	225	1	0	0	0	0	0	1	0	0	788	835	29	4	12760	4	APOB	2	21256280	Nonsense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	17525681	21256280	221943093	9	15397											
C2orf71	388939	broad.mit.edu	37	chr2	29294478	29294478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccagggggctcacagaggCcctcagctttggggaagccc	7	6	15	13	0	2	1	2	0	0	1	3	2	3	2	3	5	2	2	3	5	1	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:29294478C>T	uc002rmt.2	-	0	2650	c.2650G>A	c.(2650-2652)Gcc>Acc	p.A884T		NM_001029883	NP_001025054	A6NGG8	CB071_HUMAN	Homo sapiens chromosome 2 open reading frame 71 (C2orf71), mRNA.	884					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTCACAGAGGCCCTCAGCTTT	0.657													T	29294478	C	T	29294478	3	4	225	1	0	0	0	0	1	0	0	0	2212	739	26	2	1224	2	C2orf71	2	29294478	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8038198	29294478	213904895	10	15398											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631538	128631538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggcagttccattaggccGgggaagagggctcagcgctc	7	8	16	10	2	1	1	1	0	0	1	3	2	2	2	2	5	1	5	2	5	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:128631538G>A	uc002tpl.3	-	2	522	c.271C>T	c.(271-273)Cgg>Tgg	p.R91W	AMMECR1L_uc002tpm.3_Missense_Mutation_p.R91W	NM_031445	NP_113633	Q6DCA0	AMERL_HUMAN	Homo sapiens AMME chromosomal region gene 1-like (AMMECR1L), transcript variant 1, mRNA.	91										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CCATTAGGCCGGGGAAGAGGG	0.547													A	128631538	G	A	128631538	3	1	225	1	0	0	0	0	1	0	0	0	579	1115	39	1	685	1	AMMECR1L	2	128631538	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	99337060	128631538	114567835	11	15399											
TTN	7273	broad.mit.edu	37	chr2	179457195	179457195	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccatcttcatgggcagcaTtacgaatttcaagcttgcta	11	12	7	11	1	3	0	2	0	1	0	3	1	3	0	1	1	4	4	1	1	4	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179457195T>G	uc021vsy.1	-	249	52058	c.51833A>C	c.(51832-51834)aAt>aCt	p.N17278T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N10973T|TTN_uc021vta.1_Missense_Mutation_p.N10906T|TTN_uc021vtb.1_Missense_Mutation_p.N10781T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	18205	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGCAGCATTACGAATTTC	0.378													G	179457195	T	G	179457195	3	3	225	1	0	0	0	0	1	0	0	0	16837	1493	52	5	48690	5	TTN	2	179457195	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	50825657	179457195	63742178	12	15400											
TTN	7273	broad.mit.edu	37	chr2	179476881	179476881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggcgtagggtggtcCaggagtggctgaaaataaaa	12	7	16	6	1	0	1	0	1	0	0	1	2	1	2	2	5	1	2	2	5	5	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:179476881C>T	uc021vsy.1	-	215	42778	c.42553G>A	c.(42553-42555)Gga>Aga	p.G14185R	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G7880R|TTN_uc021vta.1_Missense_Mutation_p.G7813R|TTN_uc021vtb.1_Missense_Mutation_p.G7688R	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15112	Fibronectin type-III 2.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V14184_T14185delVT(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGGGTGGTCCAGGAGTGGCT	0.428													T	179476881	C	T	179476881	3	4	225	1	0	0	0	0	1	0	0	0	16837	603	21	2	57820	2	TTN	2	179476881	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	19686	179476881	63722492	13	15401											
DNAH7	56171	broad.mit.edu	37	chr2	196681639	196681639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctaatatattgccttcCgaagatgaaagaacttctaa	14	14	5	8	1	3	3	0	1	3	2	4	4	4	3	2	0	2	0	2	0	7	8			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr2:196681639C>T	uc002utj.4	-	50	9575	c.9474G>A	c.(9472-9474)tcG>tcA	p.S3158S		NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN	Homo sapiens dynein, axonemal, heavy chain 7 (DNAH7), mRNA.	3158	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S3158L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATTGCCTTCCGAAGATGAAA	0.323													T	196681639	C	T	196681639	2	4	225	1	0	0	0	0	0	0	0	1	4645	639	23	1		1	DNAH7	2	196681639	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	17204758	196681639	46517734	14	15402											
CHDH	55349	broad.mit.edu	37	chr3	53856599	53856599	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgctcacaagcgtctcGgcctcggccttgaggttggt	5	10	12	14	3	2	1	1	1	1	0	4	1	2	1	3	4	2	2	3	4	1	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr3:53856599G>A	uc003dgz.3	-	3	1215	c.774C>T	c.(772-774)gcC>gcT	p.A258A		NM_018397	NP_060867	Q8NE62	CHDH_HUMAN	Homo sapiens choline dehydrogenase (CHDH), nuclear gene encoding mitochondrial protein, mRNA.	258					alcohol metabolic process		choline dehydrogenase activity|flavin adenine dinucleotide binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	CAAGCGTCTCGGCCTCGGCCT	0.632													A	53856599	G	A	53856599	2	1	225	1	0	0	0	0	0	0	0	1	3363	1103	39	1		1	CHDH	3	53856599	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		53856599	144165831	15	15403											
SULT1B1	27284	broad.mit.edu	37	chr4	70615520	70615520	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atccggggtgatggattcttCtccaattgttctatacctga	8	15	9	9	1	3	2	0	2	3	0	5	3	4	3	3	3	1	1	3	3	3	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:70615520C>G	uc003hen.3	-	3	592	c.294G>C	c.(292-294)gaG>gaC	p.E98D		NM_014465	NP_055280	O43704	ST1B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 1B, member 1 (SULT1B1), mRNA.	98					3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						ATGGATTCTTCTCCAATTGTT	0.383													G	70615520	C	G	70615520	3	3	225	1	0	0	0	0	1	0	0	0	15472	912	32	4	616	4	SULT1B1	4	70615520	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		70615520	120538756	16	15404											
PRKG2	5593	broad.mit.edu	37	chr4	82074799	82074799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttttaattaatagttaccTttccttttgccaaaatgaaa	14	17	4	6	0	0	1	0	1	0	0	1	1	1	1	3	0	2	2	3	0	7	8			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:82074799T>C	uc003hmh.2	-	6	1003	c.990_splice	c.e6+1	p.K330_splice	PRKG2_uc011ccf.1_Splice_Site|PRKG2_uc011ccg.1_Splice_Site|PRKG2_uc011cch.1_Splice_Site_p.K330_splice	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	330					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AATAGTTACCTTTCCTTTTGC	0.333													C	82074799	T	C	82074799	3	2	225	1	0	0	0	0	1	0	0	0	12609	1623	56	3	1351	3	PRKG2	4	82074799	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	11459279	82074799	109079477	17	15405											
MMRN1	22915	broad.mit.edu	37	chr4	90874400	90874400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagacaagcttgcatttgAgtctgaaaatattaacagtg	16	12	8	5	0	1	3	0	2	1	1	1	3	1	3	0	0	3	2	0	0	7	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:90874400A>G	uc003hst.3	+	7	3589	c.3518A>G	c.(3517-3519)gAg>gGg	p.E1173G	MMRN1_uc010iku.3_Missense_Mutation_p.E476G|MMRN1_uc011cds.2_Missense_Mutation_p.E915G	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1173	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CTTGCATTTGAGTCTGAAAAT	0.368													G	90874400	A	G	90874400	3	3	225	1	0	0	0	0	1	0	0	0	9746	304	11	3	3548	3	MMRN1	4	90874400	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08	8799601	90874400	100279876	18	15406											
ZFP42	132625	broad.mit.edu	37	chr4	188924074	188924074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccaagacctgcaggCggaaatagaacctgtcagcg	13	5	12	11	2	2	2	2	0	0	2	2	3	2	3	3	2	4	1	3	2	5	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924074C>T	uc003izh.1	+	3	521	c.113C>T	c.(112-114)gCg>gTg	p.A38V	ZFP42_uc003izi.1_Missense_Mutation_p.A38V|ZFP42_uc021xvm.1_Missense_Mutation_p.A38V	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	38					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GACCTGCAGGCGGAAATAGAA	0.572													T	188924074	C	T	188924074	3	4	225	1	0	0	0	0	1	0	0	0	17751	768	27	1	115	1	ZFP42	4	188924074	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	98049674	188924074	2230202	19	15407											
ZFP42	132625	broad.mit.edu	37	chr4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaatgtgggaaagcgttcGttgagagctcaaaactaaag	14	8	13	6	3	1	1	1	1	0	1	2	4	1	3	0	2	3	3	0	2	6	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr4:188924640G>A	uc003izh.1	+	3	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													A	188924640	G	A	188924640	3	1	225	1	0	0	0	0	1	0	0	0	17751	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	566	188924640	2229636	20	15408											
ANKRA2	57763	broad.mit.edu	37	chr5	72857050	72857050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagaaatgctttgttgtaGagggggtgtagacatgcctt	9	13	15	4	0	0	3	0	1	0	3	0	4	0	3	1	2	2	4	1	2	3	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:72857050G>A	uc003kcu.2	-	2	1012	c.353C>T	c.(352-354)tCt>tTt	p.S118F		NM_023039	NP_075526	Q9H9E1	ANRA2_HUMAN	Homo sapiens ankyrin repeat, family A (RFXANK-like), 2 (ANKRA2), mRNA.	118						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CTTTGTTGTAGAGGGGGTGTA	0.388													A	72857050	G	A	72857050	3	1	225	1	0	0	0	0	1	0	0	0	636	942	33	2	616	2	ANKRA2	5	72857050	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		72857050	108058210	21	15409											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167547	140167547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggtgttcgtgctggacGagaacgacaacgcgccggcg	8	6	16	11	7	0	1	0	0	0	1	1	4	0	2	1	3	4	3	1	3	2	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140167547G>A	uc003lhb.2	+	0	1672	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lgz.3_Missense_Mutation_p.E558K	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	572	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGTGCTGGACGAGAACGACAA	0.672													A	140167547	G	A	140167547	3	1	225	1	0	0	0	0	1	0	0	0	11609	1059	37	1		1	PCDHAC2	5	140167547	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	67310497	140167547	40747713	22	15410											
PCDHAC2	56140	broad.mit.edu	37	chr5	140221381	140221381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccgctagagggcgcgtccGatgcagatgttggagctaac	8	9	14	10	4	0	2	0	0	0	2	2	4	2	3	2	2	3	4	2	2	2	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140221381G>A	uc003lhs.2	+	0	475	c.475G>A	c.(475-477)Gat>Aat	p.D159N	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.D159N	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	174	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGCGTCCGATGCAGATGT	0.458													A	140221381	G	A	140221381	3	1	225	1	0	0	0	0	1	0	0	0	11609	1058	37	1		1	PCDHAC2	5	140221381	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	53834	140221381	40693879	23	15411											
PCDHGC5	8641	broad.mit.edu	37	chr5	140769126	140769126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcaacgacaatgcgccaCgggtgctgtaccccgcgctg	8	5	12	16	6	0	0	0	0	0	0	0	1	0	0	4	1	4	4	4	1	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:140769126C>T	uc003lkc.2	+	0	1675	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	563	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGCGCCACGGGTGCTGTA	0.662													T	140769126	C	T	140769126	3	4	225	1	0	0	0	0	1	0	0	0	11647	527	19	1		1	PCDHGC5	5	140769126	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	547745	140769126	40146134	24	15412											
SLC36A3	285641	broad.mit.edu	37	chr5	150672978	150672978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgggcaggtttcaaggccGtacatcgtggcctctccata	7	11	11	12	3	2	0	1	0	1	0	5	0	2	0	3	4	1	3	3	4	3	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr5:150672978G>A	uc003ltx.2	-	3	770	c.351C>T	c.(349-351)taC>taT	p.Y117Y	SLC36A3_uc003ltv.2_Silent_p.Y61Y|SLC36A3_uc003ltw.2_Silent_p.Y117Y	NM_001145017	NP_001138489	Q495N2	S36A3_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 3 (SLC36A3), transcript variant 1, mRNA.	117						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTTCAAGGCCGTACATCGTGG	0.428													A	150672978	G	A	150672978	2	1	225	1	0	0	0	0	0	0	0	1	14689	1140	40	1		1	SLC36A3	5	150672978	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	9903852	150672978	30242282	25	15413											
ZNF193	7746	broad.mit.edu	37	chr6	28200919	28200919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacactgcaacctcattcGccatcagaagatccacacag	13	7	6	15	2	2	2	2	0	0	2	5	3	3	2	3	0	2	1	3	0	2	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:28200919G>A	uc010jqz.2	+	4	1490	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	ZNF193_uc003nkr.2_Missense_Mutation_p.R383H|ZNF193_uc003nkq.2_Missense_Mutation_p.R383H	NM_001199479	NP_001186408	O15535	ZN193_HUMAN	Homo sapiens zinc finger protein 193 (ZNF193), transcript variant 1, mRNA.	383					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|lung(5)|prostate(1)	8						AACCTCATTCGCCATCAGAAG	0.502													A	28200919	G	A	28200919	3	1	225	1	0	0	0	0	1	0	0	0	17858	1087	38	1	1158	1	ZNF193	6	28200919	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		28200919	142914148	26	15414											
EEF1A1	1915	broad.mit.edu	37	chr6	74228304	74228304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtttgagaacaccagtctCcactcggccaacaggaacag	12	6	11	12	1	1	1	0	1	1	1	3	3	1	2	3	3	3	1	3	3	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:74228304C>T	uc003phi.3	-	4	1794	c.802G>A	c.(802-804)Gag>Aag	p.E268K	EEF1A1_uc003phj.3_Missense_Mutation_p.E268K|EEF1A1_uc021zbs.1_Intron|EEF1A1_uc003phl.3_Intron|EEF1A1_uc003phm.1_Intron|EEF1A1_uc021zbt.1_5'Flank|EEF1A1_uc021zbu.1_5'Flank	NM_001402	NP_001393	P68104	EF1A1_HUMAN	Homo sapiens eukaryotic translation elongation factor 1 alpha 1 (EEF1A1), mRNA.	268						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						ACACCAGTCTCCACTCGGCCA	0.418											OREG0003895	type=REGULATORY REGION|Gene=D16891|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	74228304	C	T	74228304	3	4	225	1	0	0	0	0	1	0	0	0	4962	864	30	2	598	2	EEF1A1	6	74228304	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	46027385	74228304	96886763	27	15415											
GPRC6A	222545	broad.mit.edu	37	chr6	117150029	117150031	+	In_Frame_Del	DEL	ACA	ACA	-																															tctgggagagtcttctgaggAcaacattttttcatgaatag																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:117150029_117150031delACA	uc003pxj.1	-	0	168_170	c.146_148delTGT	c.(145-150)ttgtcc>tcc	p.L49del	GPRC6A_uc003pxk.1_In_Frame_Del_p.L49del|GPRC6A_uc003pxl.1_In_Frame_Del_p.L49del	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	49					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		TCTTCTGAGGACAACATTTTTTC	0.443													-	117150031	ACA	-	117150029	7	5	225	1	0	1	0	1	0	0	0	0	6783	275	10	0	2656	0	GPRC6A	6	117150029	In_Frame_Del	DEL	ACA	TCGA-32-1982-01A-01D-1494-08	42921725	117150029	53965038	28	15416											
HBS1L	10767	broad.mit.edu	37	chr6	135318720	135318720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtctcaagaacatcggaaGaagcaatggcatcttcaatg	15	8	9	9	1	3	2	2	0	2	2	5	3	3	3	0	2	2	2	0	2	6	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:135318720G>C	uc003qez.2	-	5	821	c.614C>G	c.(613-615)tCt>tGt	p.S205C	HBS1L_uc003qey.2_Missense_Mutation_p.S41C|HBS1L_uc011ecy.1_Intron|HBS1L_uc011ecz.1_Missense_Mutation_p.S41C|HBS1L_uc011eda.1_Missense_Mutation_p.S163C	NM_006620	NP_006611	Q9Y450	HBS1L_HUMAN	Homo sapiens HBS1-like (S. cerevisiae) (HBS1L), transcript variant 1, mRNA.	205					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		AACATCGGAAGAAGCAATGGC	0.443													C	135318720	G	C	135318720	3	2	225	1	0	0	0	0	1	0	0	0	7042	942	33	4	1492	4	HBS1L	6	135318720	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	18168691	135318720	35796347	29	15417											
BCLAF1	9774	broad.mit.edu	37	chr6	136582520	136582520	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttaggactgctacctgaTtttttgaagttaaagcgccc	10	14	8	9	1	0	2	0	2	0	0	0	3	0	3	2	1	3	2	2	1	5	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:136582520T>C	uc003qgx.1	-	11	2893	c.2640A>G	c.(2638-2640)aaA>aaG	p.K880K	BCLAF1_uc011edb.1_Silent_p.K159K|BCLAF1_uc003qgy.1_Silent_p.K829K|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Silent_p.K878K|BCLAF1_uc003qgw.1_Silent_p.K707K	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	880					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGCTACCTGATTTTTTGAAGT	0.428													C	136582520	T	C	136582520	2	2	225	1	0	0	0	0	0	0	0	1	1388	1490	52	3		3	BCLAF1	6	136582520	Silent	SNP	T	TCGA-32-1982-01A-01D-1494-08	1263800	136582520	34532547	30	15418											
IFNGR1	3459	broad.mit.edu	37	chr6	137519737	137519737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtgatacatattttgattCaggttttgtctctaaagtag	11	17	9	4	0	2	2	1	2	1	0	3	3	2	2	0	1	1	2	0	1	5	9			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:137519737C>G	uc003qho.2	-	6	1004	c.901G>C	c.(901-903)Gaa>Caa	p.E301Q	IFNGR1_uc011edm.1_Missense_Mutation_p.E273Q	NM_000416	NP_000407	P15260	INGR1_HUMAN	Homo sapiens interferon gamma receptor 1 (IFNGR1), mRNA.	301					regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TATTTTGATTCAGGTTTTGTC	0.393													G	137519737	C	G	137519737	3	3	225	1	0	0	0	0	1	0	0	0	7607	835	29	4	572	4	IFNGR1	6	137519737	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	937217	137519737	33595330	31	15419											
SYNE1	23345	broad.mit.edu	37	chr6	152831380	152831380	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttcttagcatttccttGgatcttggtggtcaccttcc	5	16	8	12	0	3	0	1	0	2	0	5	1	5	1	4	3	2	1	4	3	1	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:152831380G>A	uc021zhb.1	-	5	752	c.529C>T	c.(529-531)Caa>Taa	p.Q177*	SYNE1_uc003qot.4_Nonsense_Mutation_p.Q184*|SYNE1_uc003qou.4_Nonsense_Mutation_p.Q177*|SYNE1_uc010kjb.1_Nonsense_Mutation_p.Q177*|SYNE1_uc003qpa.1_Nonsense_Mutation_p.Q177*	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	177	Actin-binding.				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)		GCATTTCCTTGGATCTTGGTG	0.453										HNSCC(10;0.0054)			A	152831380	G	A	152831380	4	1	225	1	0	0	0	0	0	1	0	0	15542	1357	47	2	26493	2	SYNE1	6	152831380	Nonsense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	15311643	152831380	18283687	32	15420											
MAP3K4	4216	broad.mit.edu	37	chr6	161527602	161527602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaagtcagtccgattgtttGaagaaaagaggtaccgagaa	16	8	12	5	2	1	5	1	1	0	4	2	7	2	5	2	1	1	2	2	1	6	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527602G>A	uc003qtn.3	+	19	4055	c.3913G>A	c.(3913-3915)Gaa>Aaa	p.E1305K	MAP3K4_uc010kkc.1_Missense_Mutation_p.E1301K|MAP3K4_uc003qto.3_Missense_Mutation_p.E1255K|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.E758K|MAP3K4_uc003qtp.3_Missense_Mutation_p.E241K|MAP3K4_uc003qtq.3_5'UTR	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1305					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGATTGTTTGAAGAAAAGAG	0.408													A	161527602	G	A	161527602	3	1	225	1	0	0	0	0	1	0	0	0	9327	1291	45	2	3991	2	MAP3K4	6	161527602	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	8696222	161527602	9587465	33	15421											
MAP3K4	4216	broad.mit.edu	37	chr6	161527656	161527656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatcattggtcaagtttgtGatacgcctaagtcctatgat	11	15	8	7	1	2	2	2	2	0	0	3	2	3	2	2	1	1	1	2	1	5	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr6:161527656G>A	uc003qtn.3	+	19	4109	c.3967G>A	c.(3967-3969)Gat>Aat	p.D1323N	MAP3K4_uc010kkc.1_Missense_Mutation_p.D1319N|MAP3K4_uc003qto.3_Missense_Mutation_p.D1273N|MAP3K4_uc011efz.2_Non-coding_Transcript|MAP3K4_uc011ega.2_Missense_Mutation_p.D776N|MAP3K4_uc003qtp.3_Missense_Mutation_p.D259N|MAP3K4_uc003qtq.3_Missense_Mutation_p.D12N	NM_005922	NP_005913	Q9Y6R4	M3K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 4 (MAP3K4), transcript variant 1, mRNA.	1323					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.T1323T(1)		breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TCAAGTTTGTGATACGCCTAA	0.398													A	161527656	G	A	161527656	3	1	225	1	0	0	0	0	1	0	0	0	9327	1290	45	2	4045	2	MAP3K4	6	161527656	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	54	161527656	9587411	34	15422											
ELMO1	9844	broad.mit.edu	37	chr7	37354483	37354483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatagaagtttgaactatCggcatgctggagtgcaaaat	14	11	11	5	1	0	2	0	1	0	1	1	4	0	3	0	2	3	4	0	2	7	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:37354483C>T	uc022abv.1	-	3	873	c.163G>A	c.(163-165)Gat>Aat	p.D55N	ELMO1_uc003tfk.2_Missense_Mutation_p.D55N|ELMO1_uc010kxg.2_Missense_Mutation_p.D55N	NM_001206482	NP_001193411	Q92556	ELMO1_HUMAN	Homo sapiens engulfment and cell motility 1 (ELMO1), transcript variant 5, mRNA.	55					actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						TTTGAACTATCGGCATGCTGG	0.323													T	37354483	C	T	37354483	3	4	225	1	0	0	0	0	1	0	0	0	5106	884	31	1	2096	1	ELMO1	7	37354483	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		37354483	121784180	35	15423											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	225	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	17878560	55233043	103905620	36	15424											
RABL5	64792	broad.mit.edu	37	chr7	100959711	100959711	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggacggctgttggaCaaagcaggaataccacatct	13	8	11	9	1	1	0	0	0	1	0	1	3	1	3	1	4	2	4	1	4	4	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:100959711C>A	uc003uyl.3	-	3	422	c.319G>T	c.(319-321)Gtc>Ttc	p.V107F	RABL5_uc011kkk.2_Missense_Mutation_p.V30F|RABL5_uc011kkl.2_Missense_Mutation_p.V30F|RABL5_uc003uym.3_Missense_Mutation_p.V77F|RABL5_uc010lhw.3_Non-coding_Transcript|RABL5_uc011kkm.2_Missense_Mutation_p.V107F	NM_022777	NP_001124294	Q9H7X7	RABL5_HUMAN	Homo sapiens RAB, member RAS oncogene family-like 5 (RABL5), transcript variant 1, mRNA.	107							GTP binding	p.V107F(2)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					GGCTGTTGGACAAAGCAGGAA	0.502													A	100959711	C	A	100959711	3	1	225	1	0	0	0	0	1	0	0	0	13061	478	17	4	246	4	RABL5	7	100959711	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	45726668	100959711	58178952	37	15425											
SLC26A5	375611	broad.mit.edu	37	chr7	103050961	103050961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggctctgtgagatatatGgccacaaatccaaacctaca	15	8	8	10	0	1	2	0	1	1	2	2	3	2	2	3	2	2	1	3	2	5	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:103050961G>A	uc003vbz.3	-	6	868	c.606C>T	c.(604-606)gcC>gcT	p.A202A	SLC26A5_uc003vbt.2_Silent_p.A202A|SLC26A5_uc003vbu.2_Silent_p.A202A|SLC26A5_uc003vbv.2_Silent_p.A202A|SLC26A5_uc003vbw.3_Non-coding_Transcript|SLC26A5_uc003vby.3_Non-coding_Transcript|SLC26A5_uc010liy.3_Non-coding_Transcript|SLC26A5_uc003vbx.3_Silent_p.A202A	NM_198999	NP_945350	P58743	S26A5_HUMAN	Homo sapiens solute carrier family 26, member 5 (prestin) (SLC26A5), transcript variant a, mRNA.	202					regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity	p.A202A(2)		endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						TGAGATATATGGCCACAAATC	0.408													A	103050961	G	A	103050961	2	1	225	1	0	0	0	0	0	0	0	1	14614	1335	47	2		2	SLC26A5	7	103050961	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	2091250	103050961	56087702	38	15426											
NUP205	23165	broad.mit.edu	37	chr7	135304420	135304420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattgaagaaactgttaGacttcattttgaagacaggt	14	14	8	5	0	2	5	2	2	0	3	2	5	2	5	0	1	1	1	0	1	5	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:135304420G>T	uc003vsw.3	+	28	4244	c.4213G>T	c.(4213-4215)Gac>Tac	p.D1405Y		NM_015135	NP_055950	Q92621	NU205_HUMAN	Homo sapiens nucleoporin 205kDa (NUP205), mRNA.	1405					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAACTGTTAGACTTCATTTT	0.303													T	135304420	G	T	135304420	3	4	225	1	0	0	0	0	1	0	0	0	10835	942	33	4	4327	4	NUP205	7	135304420	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	32253459	135304420	23834243	39	15427											
KEL	3792	broad.mit.edu	37	chr7	142650951	142650951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttttcaaatattccacGtcatggaccacgagggactg	11	12	9	9	2	2	0	2	0	0	0	3	3	3	2	2	2	0	1	2	2	2	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:142650951G>A	uc003wcb.3	-	8	1227	c.1017C>T	c.(1015-1017)gaC>gaT	p.D339D		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	339					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AATATTCCACGTCATGGACCA	0.537													A	142650951	G	A	142650951	2	1	225	1	0	0	0	0	0	0	0	1	8200	1136	40	1		1	KEL	7	142650951	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	7346531	142650951	16487712	40	15428											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884178	143884178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggactctgtctgagtcccGggaatctgagtcacgagata	9	10	12	10	2	4	3	1	2	3	1	5	6	5	5	1	2	0	0	1	2	2	1	rs140097295		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr7:143884178G>A	uc003wdz.2	-	1	1472	c.1299C>T	c.(1297-1299)ccC>ccT	p.P433P	ARHGEF35_uc022aog.1_Silent_p.P433P	NM_001003702	NP_001003702	A5YM69	ARG35_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 35 (ARHGEF35), mRNA.	433										kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						TCTGAGTCCCGGGAATCTGAG	0.567													A	143884178	G	A	143884178	2	1	225	1	0	0	0	0	0	0	0	1	908	1103	39	1		1	ARHGEF35	7	143884178	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	1233227	143884178	15254485	41	15429											
ADAM28	10863	broad.mit.edu	37	chr8	24181418	24181418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgacaaggataagataaaGataaccccaaatgcaagctt	19	7	7	8	0	0	3	0	1	0	2	0	4	0	4	2	1	3	2	2	1	7	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:24181418G>A	uc003xdy.3	+	8	875	c.792G>A	c.(790-792)aaG>aaA	p.K264K	ADAM28_uc003xdx.3_Silent_p.K264K|ADAM28_uc011kzz.2_Silent_p.K31K|ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	264	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATAAGATAAAGATAACCCCAA	0.383													A	24181418	G	A	24181418	2	1	225	1	0	0	0	0	0	0	0	1	246	933	33	2		2	ADAM28	8	24181418	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		24181418	122182604	42	15430											
JPH1	56704	broad.mit.edu	37	chr8	75171695	75171695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcgagcggccagcgCggcctggtcggcggcatcgg	3	5	18	15	7	0	0	0	0	0	0	3	1	1	0	3	7	2	1	3	7	0	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:75171695C>T	uc003yae.3	-	2	1223	c.1183G>A	c.(1183-1185)Gcg>Acg	p.A395T	JPH1_uc003yaf.3_Missense_Mutation_p.A395T|JPH1_uc003yag.1_Missense_Mutation_p.A259T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	395	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane		p.A395T(2)		endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			GCGGCCAGCGCGGCCTGGTCG	0.597													T	75171695	C	T	75171695	3	4	225	1	0	0	0	0	1	0	0	0	8018	768	27	1	814	1	JPH1	8	75171695	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	50990277	75171695	71192327	43	15431											
ENPP2	5168	broad.mit.edu	37	chr8	120629796	120629796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagatgattaatggagggcGaacaaaccttaaacagtaac	18	7	10	6	1	0	2	0	1	0	1	0	5	0	3	1	2	4	1	1	2	7	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:120629796G>A	uc003yos.2	-	5	573	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	ENPP2_uc010mdd.2_Missense_Mutation_p.R163C|ENPP2_uc003yot.2_Missense_Mutation_p.R163C	NM_006209	NP_006200	Q13822	ENPP2_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 2 (ENPP2), transcript variant 1, mRNA.	163					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AATGGAGGGCGAACAAACCTT	0.368													A	120629796	G	A	120629796	3	1	225	1	0	0	0	0	1	0	0	0	5171	1058	37	1	2423	1	ENPP2	8	120629796	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	45458101	120629796	25734226	44	15432											
TSNARE1	203062	broad.mit.edu	37	chr8	143310871	143310871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggacagaggtggcgatgaTgatgatgatgacaagcaggg	12	7	17	5	2	0	6	0	5	0	1	1	8	0	7	0	4	1	1	0	4	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr8:143310871T>C	uc003ywj.3	-	11	1558	c.1519A>G	c.(1519-1521)Atc>Gtc	p.I507V	TSNARE1_uc011lju.2_Missense_Mutation_p.I505V|TSNARE1_uc003ywk.3_Missense_Mutation_p.I506V	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	506	Poly-Ile.				vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGCGATGATGATGATGATG	0.512													C	143310871	T	C	143310871	3	2	225	1	0	0	0	0	1	0	0	0	16731	1464	51	3	29	3	TSNARE1	8	143310871	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	22681075	143310871	3053151	45	15433											
EPB41L4B	54566	broad.mit.edu	37	chr9	112017853	112017853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttgctgtttcctggCgtccgcagtcggaagaatgc	6	13	13	9	3	0	1	0	0	0	1	3	3	2	3	2	3	2	3	2	3	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr9:112017853C>T	uc004bdz.1	-	10	1402	c.1107G>A	c.(1105-1107)acG>acA	p.T369T	EPB41L4B_uc004bea.3_Silent_p.T369T	NM_019114	NP_061987	Q9H329	E41LB_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4B (EPB41L4B), transcript variant 2, mRNA.	369	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton	p.T369M(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTTTCCTGGCGTCCGCAGTC	0.522													T	112017853	C	T	112017853	2	4	225	1	0	0	0	0	0	0	0	1	5197	755	27	1		1	EPB41L4B	9	112017853	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		112017853	29195578	46	15434											
ARHGAP21	57584	broad.mit.edu	37	chr10	24874106	24874106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctagctgattttttcctGgaaagagtatcacattcgat	12	15	7	7	1	2	2	1	1	1	1	4	4	3	3	1	1	1	2	1	1	4	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:24874106G>A	uc001isb.2	-	25	5599	c.5112C>T	c.(5110-5112)tcC>tcT	p.S1704S	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1703	Interaction with CTNNA1.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ATTTTTTCCTGGAAAGAGTAT	0.393													A	24874106	G	A	24874106	2	1	225	1	0	0	0	0	0	0	0	1	874	1335	47	2		2	ARHGAP21	10	24874106	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08		24874106	110660641	47	15435											
CUL2	8453	broad.mit.edu	37	chr10	35299303	35299303	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtattgtttgtctatcAgaacttcaatacacttctta	11	18	4	8	0	4	1	2	0	2	1	4	1	4	1	0	0	2	2	0	0	7	9			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:35299303A>T	uc010qer.2	-	20	2335	c.2231T>A	c.(2230-2232)cTg>cAg	p.L744Q	CUL2_uc021ppa.1_Missense_Mutation_p.L738Q|CUL2_uc009xma.3_Missense_Mutation_p.L594Q|CUL2_uc001ixv.3_Missense_Mutation_p.L725Q|CUL2_uc001ixw.3_Missense_Mutation_p.L725Q	NM_001198778	NP_001185707	Q13617	CUL2_HUMAN	Homo sapiens cullin 2 (CUL2), transcript variant 1, mRNA.	725					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TTTGTCTATCAGAACTTCAAT	0.463													T	35299303	A	T	35299303	3	4	225	1	0	0	0	0	1	0	0	0	4088	188	7	5	67	5	CUL2	10	35299303	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08	10425197	35299303	100235444	48	15436											
ZNF37A	7587	broad.mit.edu	37	chr10	38404217	38404217	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccaagccagagtcatctGggtgagttagtatgtgccag	9	12	12	8	0	2	2	1	1	1	1	3	2	3	2	3	1	2	2	3	1	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:38404217G>T	uc001izk.3	+	7	1068	c.238_splice	c.e7+1	p.E80_splice	ZNF37A_uc001izl.3_Splice_Site_p.E80_splice|ZNF37A_uc001izm.3_Splice_Site_p.E80_splice	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	80						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAGTCATCTGGGTGAGTTAG	0.393													T	38404217	G	T	38404217	2	4	225	1	0	0	0	0	0	0	0	1	17973	1362	47	4		4	ZNF37A	10	38404217	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3104914	38404217	97130530	49	15437											
LRRC18	474354	broad.mit.edu	37	chr10	50121795	50121795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccagtgtggtgggcaCgctgtccaggtggttcaagc	5	8	16	12	1	1	0	1	0	0	0	2	0	2	0	3	5	1	3	3	5	1	1	rs138127999		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50121795C>T	uc001jhd.3	-	0	486	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	WDFY4_uc001jha.4_Intron|LRRC18_uc001jhe.1_Missense_Mutation_p.V136M	NM_001006939	NP_001006940	Q8N456	LRC18_HUMAN	Homo sapiens leucine rich repeat containing 18 (LRRC18), mRNA.	136						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTGGTGGGCACGCTGTCCAGG	0.602													T	50121795	C	T	50121795	3	4	225	1	0	0	0	0	1	0	0	0	9044	536	19	1	387	1	LRRC18	10	50121795	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	11717578	50121795	85412952	50	15438											
CHAT	1103	broad.mit.edu	37	chr10	50870733	50870733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaccacctgctggcactgCgggagctggcccgggccatg	7	5	14	15	2	0	0	0	0	0	0	0	1	0	1	4	4	4	3	4	4	1	0	rs116097791	by1000genomes	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:50870733C>T	uc001jhz.2	+	13	2035	c.1882C>T	c.(1882-1884)Cgg>Tgg	p.R628W	CHAT_uc001jhv.1_Missense_Mutation_p.R510W|CHAT_uc001jhx.1_Missense_Mutation_p.R510W|CHAT_uc001jhy.1_Missense_Mutation_p.R510W|CHAT_uc001jia.2_Missense_Mutation_p.R546W|CHAT_uc010qgs.1_Missense_Mutation_p.R510W	NM_020549	NP_066266	P28329	CLAT_HUMAN	Homo sapiens choline O-acetyltransferase (CHAT), transcript variant M, mRNA.	628					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity	p.L627V(1)		central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GCTGGCACTGCGGGAGCTGGC	0.572													T	50870733	C	T	50870733	3	4	225	1	0	0	0	0	1	0	0	0	3343	759	27	1	1980	1	CHAT	10	50870733	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	748938	50870733	84664014	51	15439											
PTEN	5728	broad.mit.edu	37	chr10	89692829	89692829	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaacttatcaaaccctttTgtgaagatcttgaccaatgg	13	13	7	8	0	2	4	1	2	1	2	2	4	2	4	2	1	2	0	2	1	6	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr10:89692829T>C	uc001kfb.3	+	4	1345	c.313T>C	c.(313-315)Tgt>Cgt	p.C105R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105W(4)|p.C105fs*2(3)|p.C105S(3)|p.Y27fs*1(2)|p.C105G(2)|p.C105Y(2)|p.C105R(2)|p.Y27_N212>Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAACCCTTTTGTGAAGATCT	0.378		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692829	T	C	89692829	3	2	225	1	0	0	0	0	1	0	0	0	12823	1812	63	3	331	3	PTEN	10	89692829	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	38822096	89692829	45841918	52	15440											
OR5T3	390154	broad.mit.edu	37	chr11	56020589	56020589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaccatgacatcatagtgtCaatattttacacaattgtga	15	13	6	7	0	2	3	2	2	0	1	2	3	2	3	1	0	1	0	1	0	5	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr11:56020589C>T	uc010rjd.2	+	0	914	c.914C>T	c.(913-915)tCa>tTa	p.S305L		NM_001004747	NP_001004747	Q8NGG3	OR5T3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily T, member 3 (OR5T3), mRNA.	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ATCATAGTGTCAATATTTTAC	0.368													T	56020589	C	T	56020589	3	4	225	1	0	0	0	0	1	0	0	0	11259	838	29	2	916	2	OR5T3	11	56020589	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		56020589	78985927	53	15441											
ANO2	57101	broad.mit.edu	37	chr12	5724431	5724431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagctttgaggatcaggcGctcttcaaaagtctgttctg	10	12	11	8	1	5	1	2	1	3	0	5	3	5	2	0	2	1	3	0	2	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:5724431G>A	uc001qnm.2	-	17	1921	c.1849C>T	c.(1849-1851)Cgc>Tgc	p.R617C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	622						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						AGGATCAGGCGCTCTTCAAAA	0.458													A	5724431	G	A	5724431	3	1	225	1	0	0	0	0	1	0	0	0	697	1087	38	1	1183	1	ANO2	12	5724431	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		5724431	128127464	54	15442											
LRRK2	120892	broad.mit.edu	37	chr12	40689281	40689281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagacagcatttcttctctGgcttctgagagagaatatat	11	14	8	8	0	4	3	1	1	3	3	5	5	4	3	0	1	1	2	0	1	3	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:40689281G>A	uc001rmg.4	+	22	3052	c.2931G>A	c.(2929-2931)ctG>ctA	p.L977L	LRRK2_uc001rmh.1_Silent_p.L599L|LRRK2_uc009zjw.3_5'UTR	NM_198578	NP_940980	Q5S007	LRRK2_HUMAN	Homo sapiens leucine-rich repeat kinase 2 (LRRK2), mRNA.	977					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTCTTCTCTGGCTTCTGAGA	0.343													A	40689281	G	A	40689281	2	1	225	1	0	0	0	0	0	0	0	1	9103	1335	47	2		2	LRRK2	12	40689281	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	34964850	40689281	93162614	55	15443											
LRRIQ1	84125	broad.mit.edu	37	chr12	85460676	85460676	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataataaaattactcgaattGgtaagaacaatgaaatttta	20	13	5	3	1	0	2	0	1	0	1	1	3	0	2	0	1	2	1	0	1	10	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr12:85460676G>T	uc001tac.3	+	10	2806	c.2695_splice	c.e10+1	p.G899_splice	LRRIQ1_uc021rbo.1_Splice_Site_p.G777_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	899										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTCGAATTGGTAAGAACAA	0.274													T	85460676	G	T	85460676	4	4	225	1	0	0	0	0	0	1	0	0	9099	1362	47	4	2729	4	LRRIQ1	12	85460676	Nonsense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	44771395	85460676	48391219	56	15444											
CHD8	57680	broad.mit.edu	37	chr14	21860669	21860673	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-																															ccaaatgctgagcttacatcTttgatttgaactgtaaactc																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:21860669_21860673delTTTGA	uc001war.2	-	32	6829_6833	c.6764_6768delTCAAA	c.(6763-6768)atcaaafs	p.I2255fs	CHD8_uc001was.2_Frame_Shift_Del_p.I1976fs|SNORD9_uc001wat.1_5'Flank	NM_001170629	NP_001164100	Q9HCK8	CHD8_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 8 (CHD8), transcript variant 1, mRNA.	2255					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AGCTTACATCTTTGATTTGAACTGT	0.468													-	21860673	TTTGA	-	21860669	7	5	225	1	0	1	0	1	0	0	0	0	3361	1606	56	0	997	0	CHD8	14	21860669	Frame_Shift_Del	DEL	TTTGA	TCGA-32-1982-01A-01D-1494-08		21860669	85488871	57	15445											
MYH6	4624	broad.mit.edu	37	chr14	23869930	23869930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactcacgtcgaagatctcGaagccagcgatgtccaggac	12	6	10	13	4	2	1	1	0	1	1	5	5	3	2	2	1	3	0	2	1	3	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:23869930G>A	uc001wjv.3	-	12	1469	c.1398C>T	c.(1396-1398)ttC>ttT	p.F466F	MYH6_uc010akp.2_Silent_p.F466F	NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	466	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CGAAGATCTCGAAGCCAGCGA	0.552													A	23869930	G	A	23869930	2	1	225	1	0	0	0	0	0	0	0	1	10114	1049	37	1		1	MYH6	14	23869930	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	2009261	23869930	83479610	58	15446											
DICER1	23405	broad.mit.edu	37	chr14	95569923	95569923	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatccatcctgcccttgagCacttgaatagtgtctgtcgt	8	13	9	11	1	1	2	0	2	1	0	4	3	3	2	3	0	2	1	3	0	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr14:95569923C>T	uc001ydw.2	-	21	4022	c.3810G>A	c.(3808-3810)gtG>gtA	p.V1270V	DICER1_uc010avh.1_Silent_p.V168V|DICER1_uc021sbc.1_Silent_p.V1270V|DICER1_uc001ydv.2_Silent_p.V1260V|DICER1_uc001ydx.2_Silent_p.V1270V|DICER1_uc001ydy.1_Silent_p.V122V|DICER1_uc021sbd.1_Silent_p.V552V	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	1270					negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TGCCCTTGAGCACTTGAATAG	0.468			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				T	95569923	C	T	95569923	2	4	225	1	0	0	0	0	0	0	0	1	4560	697	25	2		2	DICER1	14	95569923	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	71699993	95569923	11779617	59	15447											
RYR3	6263	broad.mit.edu	37	chr15	33895352	33895352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatcttcctgggagtcGcggagggctcagcccagtac	9	7	12	13	2	2	0	1	0	1	0	4	2	3	2	2	3	3	2	2	3	2	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:33895352G>A	uc001zhi.3	+	17	2021	c.1951G>A	c.(1951-1953)Gcg>Acg	p.A651T	RYR3_uc010bar.3_Missense_Mutation_p.A651T	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	651	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCTGGGAGTCGCGGAGGGCTC	0.527													A	33895352	G	A	33895352	3	1	225	1	0	0	0	0	1	0	0	0	13861	1087	38	1	2021	1	RYR3	15	33895352	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		33895352	68636040	60	15448											
MFAP1	4236	broad.mit.edu	37	chr15	44105497	44105497	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgcgttttgcttcctgctCcagctccttctgtttcaatg	4	17	7	13	1	2	0	1	0	1	0	5	0	5	0	3	0	4	5	3	0	1	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr15:44105497C>G	uc001zth.1	-	4	860	c.676G>C	c.(676-678)Gag>Cag	p.E226Q		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	226						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		GCTTCCTGCTCCAGCTCCTTC	0.483													G	44105497	C	G	44105497	3	3	225	1	0	0	0	0	1	0	0	0	9588	864	30	4	663	4	MFAP1	15	44105497	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	10210145	44105497	58425895	61	15449											
STUB1	10273	broad.mit.edu	37	chr16	731823	731823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccagcgaaaccacgaGggtgatgaggacgacagcca	13	3	15	10	3	0	2	0	2	0	0	0	7	0	3	3	2	4	0	3	2	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:731823G>T	uc002cit.3	+	3	966	c.555G>T	c.(553-555)gaG>gaT	p.E185D	STUB1_uc002ciu.3_Missense_Mutation_p.E113D|JMJD8_uc002ciw.1_3'UTR|JMJD8_uc002ciy.1_3'UTR	NM_005861	NP_005852	Q9UNE7	CHIP_HUMAN	Homo sapiens STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase (STUB1), mRNA.	185					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				GAAACCACGAGGGTGATGAGG	0.637													T	731823	G	T	731823	3	4	225	1	0	0	0	0	1	0	0	0	15431	991	35	4	569	4	STUB1	16	731823	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		731823	89622930	62	15450											
SEC14L5	9717	broad.mit.edu	37	chr16	5053502	5053502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattgaggtggttgaggaCaattacccagagaccctggg	11	9	14	7	0	0	4	0	3	0	1	0	6	0	5	2	4	1	1	2	4	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:5053502C>A	uc002cye.2	+	10	1410	c.1230C>A	c.(1228-1230)gaC>gaA	p.D410E		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	410	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						TGGTTGAGGACAATTACCCAG	0.647													A	5053502	C	A	5053502	3	1	225	1	0	0	0	0	1	0	0	0	14078	477	17	4	1268	4	SEC14L5	16	5053502	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	4321679	5053502	85301251	63	15451											
SMG1	23049	broad.mit.edu	37	chr16	18875017	18875018	+	Frame_Shift_Del	DEL	GT	GT	-																															ggttgagggaagtgctactgGtactctttttcaagtcatgg																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:18875017_18875018delGT	uc002dfm.3	-	24	4012_4013	c.3649_3650delAC	c.(3649-3651)accfs	p.T1217fs	SMG1_uc010bwb.3_Frame_Shift_Del_p.T1077fs	NM_015092	NP_055907	Q96Q15	SMG1_HUMAN	Homo sapiens smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans) (SMG1), mRNA.	1217	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						AGTGCTACTGGTACTCTTTTTC	0.366													-	18875018	GT	-	18875017	7	5	225	1	0	1	0	1	0	0	0	0	14889	1261	44	0	7491	0	SMG1	16	18875017	Frame_Shift_Del	DEL	GT	TCGA-32-1982-01A-01D-1494-08	13821515	18875017	71479736	64	15452											
IL4R	3566	broad.mit.edu	37	chr16	27363906	27363906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagaaccctccctccgcatcGcagccagcaccctgaagtct	9	7	7	18	2	1	2	0	1	1	1	4	2	3	2	5	0	3	3	5	0	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:27363906G>A	uc002don.3	+	6	801	c.559G>A	c.(559-561)Gca>Aca	p.A187T	IL4R_uc002dom.3_Missense_Mutation_p.A187T|IL4R_uc002dop.4_Missense_Mutation_p.A172T|IL4R_uc010bxy.3_Missense_Mutation_p.A187T|IL4R_uc002doo.3_Missense_Mutation_p.A27T	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	187	Fibronectin type-III.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCTCCGCATCGCAGCCAGCAC	0.592													A	27363906	G	A	27363906	3	1	225	1	0	0	0	0	1	0	0	0	7756	1087	38	1	577	1	IL4R	16	27363906	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	8488889	27363906	62990847	65	15453											
MT1E	4493	broad.mit.edu	37	chr16	56660826	56660826	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgtgggctgtgccaaGtgtgcccagggctgcgtctg	3	9	16	13	2	1	0	0	0	1	0	1	0	1	0	4	2	4	2	4	2	1	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:56660826G>A	uc002ejm.3	+	1					MT1A_uc002eji.3_Intron|MT1M_uc010vhe.2_Intron|MT1E_uc002ejl.3_Silent_p.K43K			P04732	MT1E_HUMAN	Homo sapiens metallothionein 1E (MT1E), mRNA.							cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding										GCTGTGCCAAGTGTGCCCAGG	0.597													A	56660826	G	A	56660826	2	1	225	1	0	0	0	0	0	0	0	1	9975	1020	36	2		2	MT1E	16	56660826	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	29296920	56660826	33693927	66	15454											
SETD6	79918	broad.mit.edu	37	chr16	58552049	58552049	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggcaactgattcataTgtacggttttgttgaaccat	11	15	8	7	1	1	2	1	2	0	0	1	2	1	2	1	2	4	4	1	2	5	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:58552049T>C	uc002ens.3	+	5	946	c.887T>C	c.(886-888)aTg>aCg	p.M296T	SETD6_uc021tjh.1_3'UTR|SETD6_uc002enr.3_Missense_Mutation_p.M272T|SETD6_uc010cdm.3_Non-coding_Transcript	NM_001160305	NP_001153777	Q8TBK2	SETD6_HUMAN	Homo sapiens SET domain containing 6 (SETD6), transcript variant 1, mRNA.	296					negative regulation of NF-kappaB transcription factor activity|peptidyl-lysine monomethylation|regulation of inflammatory response	nucleus	NF-kappaB binding|protein-lysine N-methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	7						CTGATTCATATGTACGGTTTT	0.448													C	58552049	T	C	58552049	3	2	225	1	0	0	0	0	1	0	0	0	14228	1464	51	3	909	3	SETD6	16	58552049	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	1891223	58552049	31802704	67	15455											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477049	67477049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgttcatctcgtcaaggtCctgctctgaaatgcagtcct	8	13	9	11	1	4	1	2	1	2	0	7	2	6	1	2	1	2	3	2	1	2	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:67477049C>T	uc010vjo.1	-	4	737	c.637G>A	c.(637-639)Gac>Aac	p.D213N	ATP6V0D1_uc002ete.1_Missense_Mutation_p.D172N|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.D95N	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	172					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TCGTCAAGGTCCTGCTCTGAA	0.562													T	67477049	C	T	67477049	3	4	225	1	0	0	0	0	1	0	0	0	1178	855	30	2	561	2	ATP6V0D1	16	67477049	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8925000	67477049	22877704	68	15456											
CDH1	999	broad.mit.edu	37	chr16	68855965	68855965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgatgtgaatgacaaCgcccccataccagaacctcg	11	8	8	14	2	1	4	0	3	1	1	2	4	1	4	4	0	3	0	4	0	4	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr16:68855965C>T	uc002ewg.1	+	11	1897	c.1773C>T	c.(1771-1773)aaC>aaT	p.N591N	CDH1_uc010vlj.1_Non-coding_Transcript|CDH1_uc010cfg.1_Silent_p.N530N	NM_004360	NP_004351	P12830	CADH1_HUMAN	Homo sapiens cadherin 1, type 1, E-cadherin (epithelial) (CDH1), mRNA.	591	Cadherin 4.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding			NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGAATGACAACGCCCCCATAC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				T	68855965	C	T	68855965	2	4	225	1	0	0	0	0	0	0	0	1	3125	535	19	1		1	CDH1	16	68855965	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	1378916	68855965	21498788	69	15457											
DNAH2	146754	broad.mit.edu	37	chr17	7663139	7663139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacccactctgcagactttgGcaggtgtggtcaatgacatt	9	11	10	11	0	2	2	1	1	1	1	2	2	2	2	1	3	1	2	1	3	1	2	rs112194246		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:7663139G>A	uc002giu.1	+	15	2682	c.2668G>A	c.(2668-2670)Gca>Aca	p.A890T		NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	890	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GCAGACTTTGGCAGGTGTGGT	0.522													A	7663139	G	A	7663139	3	1	225	1	0	0	0	0	1	0	0	0	4641	1203	42	2	2730	2	DNAH2	17	7663139	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		7663139	73532071	70	15458											
ZNF624	57547	broad.mit.edu	37	chr17	16526500	16526500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtataattagagaagaagaaCgcatgaaggcctttccacat	16	9	9	7	1	0	4	0	1	0	3	1	5	1	4	2	1	1	2	2	1	7	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:16526500C>T	uc010cpi.2	-	5	1792	c.1700G>A	c.(1699-1701)cGt>cAt	p.R567H	ZNF624_uc021tre.1_Missense_Mutation_p.R441H	NM_020787	NP_065838	Q9P2J8	ZN624_HUMAN	Homo sapiens zinc finger protein 624 (ZNF624), mRNA.	567					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		AGAAGAAGAACGCATGAAGGC	0.368													T	16526500	C	T	16526500	3	4	225	1	0	0	0	0	1	0	0	0	18149	536	19	1	901	1	ZNF624	17	16526500	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	8863361	16526500	64668710	71	15459											
RAD51C	5889	broad.mit.edu	37	chr17	56772380	56772380	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaagatatgctggtacAtctgagtcacacaagaagtg	16	8	9	8	0	2	3	1	1	1	2	2	3	2	3	1	1	3	2	1	1	6	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:56772380A>G	uc002iwu.3	+	1	276	c.234A>G	c.(232-234)acA>acG	p.T78T	TEX14_uc010dcz.2_5'Flank|TEX14_uc002iwr.2_5'Flank|TEX14_uc002iws.2_5'Flank|TEX14_uc010dda.2_5'Flank|RAD51C_uc002iwt.1_Silent_p.T78T|RAD51C_uc010woa.1_Silent_p.T78T|RAD51C_uc010ddc.3_Non-coding_Transcript|RAD51C_uc002iww.3_Non-coding_Transcript|RAD51C_uc010wob.1_Non-coding_Transcript	NM_058216	NP_478123	O43502	RA51C_HUMAN	Homo sapiens RAD51 homolog C (S. cerevisiae) (RAD51C), transcript variant 1, mRNA.	78					blood coagulation|DNA repair	mitochondrion|nucleoplasm|perinuclear region of cytoplasm	ATP binding|DNA binding|DNA-dependent ATPase activity			upper_aerodigestive_tract(1)	1	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGCTGGTACATCTGAGTCAC	0.398								Homologous recombination	Hereditary Breast-Ovarian Cancer, non-BRCA1/2				G	56772380	A	G	56772380	2	3	225	1	0	0	0	0	0	0	0	1	13076	204	8	3		3	RAD51C	17	56772380	Silent	SNP	A	TCGA-32-1982-01A-01D-1494-08	40245880	56772380	24422830	72	15460											
ACE	1636	broad.mit.edu	37	chr17	61554654	61554654	+	Frame_Shift_Del	DEL	G	G	-																															tgctgttccagagcgtggccGccagctgggcgcacgacacc																										TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr17:61554654delG	uc002jau.2	+	0	233	c.199delG	c.(199-201)gccfs	p.A67fs	ACE_uc010wph.2_Frame_Shift_Del_p.A67fs|ACE_uc010wpi.2_Frame_Shift_Del_p.A67fs|ACE_uc010ddu.2_5'UTR	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	67	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GAGCGTGGCCGCCAGCTGGGC	0.726													-	61554654	G	-	61554654	7	5	225	1	0	1	0	1	0	0	0	0	136	1087	38	0	201	0	ACE	17	61554654	Frame_Shift_Del	DEL	G	TCGA-32-1982-01A-01D-1494-08	4782274	61554654	19640556	73	15461											
CTDP1	9150	broad.mit.edu	37	chr18	77457977	77457977	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcagcactgtcagcagAtgtcgaataaagtgagtgca	13	7	12	9	2	1	2	1	1	0	1	2	4	1	2	1	0	4	4	1	0	3	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr18:77457977A>G	uc002lnh.2	+	3	757	c.610A>G	c.(610-612)Atg>Gtg	p.M204V	CTDP1_uc002lni.2_Missense_Mutation_p.M204V|CTDP1_uc010drd.2_Missense_Mutation_p.M204V|CTDP1_uc021ult.1_Missense_Mutation_p.M85V	NM_004715	NP_001189433	Q9Y5B0	CTDP1_HUMAN	Homo sapiens CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1 (CTDP1), transcript variant 1, mRNA.	204	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CTGTCAGCAGATGTCGAATAA	0.493													G	77457977	A	G	77457977	3	3	225	1	0	0	0	0	1	0	0	0	4035	333	12	3	624	3	CTDP1	18	77457977	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08		77457977	619271	74	15462											
ATP8B3	148229	broad.mit.edu	37	chr19	1792112	1792112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggccaggcacagtgtcCgcagggtctcctgggcaaag	8	7	15	11	1	1	0	0	0	1	0	3	0	2	0	3	4	0	4	3	4	2	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:1792112C>T	uc002ltw.3	-	18	2312	c.2078G>A	c.(2077-2079)cGg>cAg	p.R693Q	ATP8B3_uc002ltv.3_Missense_Mutation_p.R646Q|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	693					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		GCACAGTGTCCGCAGGGTCTC	0.677													T	1792112	C	T	1792112	3	4	225	1	0	0	0	0	1	0	0	0	1201	652	23	1	1898	1	ATP8B3	19	1792112	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08		1792112	57336871	75	15463											
ADAMTS10	81794	broad.mit.edu	37	chr19	8668748	8668748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcaggtactcttcctcGtctgccacgatcaggccgtg	7	11	9	14	3	5	0	3	0	2	0	7	1	6	0	3	2	2	1	3	2	2	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:8668748G>A	uc002mkj.1	-	4	730	c.456C>T	c.(454-456)gaC>gaT	p.D152D	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	152					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						ACTCTTCCTCGTCTGCCACGA	0.572													A	8668748	G	A	8668748	2	1	225	1	0	0	0	0	0	0	0	1	256	1136	40	1		1	ADAMTS10	19	8668748	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	6876636	8668748	50460235	76	15464											
MUC16	94025	broad.mit.edu	37	chr19	9058871	9058871	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcctctgtagcactggtGgtttccacatgggacgctgc	6	12	12	11	1	1	0	0	0	1	0	3	1	3	1	2	3	2	5	2	3	1	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:9058871G>T	uc002mkp.3	-	2	28779	c.28575C>A	c.(28573-28575)acC>acA	p.T9525T		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	9527	Ser-rich.|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						TAGCACTGGTGGTTTCCACAT	0.478													T	9058871	G	T	9058871	2	4	225	1	0	0	0	0	0	0	0	1	10049	1335	47	4		4	MUC16	19	9058871	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	390123	9058871	50070112	77	15465											
IL12RB1	3594	broad.mit.edu	37	chr19	18184347	18184347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctttcagggtcagccGcctcctcccatcctggccca	4	10	8	19	1	3	0	2	0	1	0	6	0	6	0	6	2	2	1	6	2	0	1			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:18184347G>A	uc002nhx.1	-	8	934	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	IL12RB1_uc002nhw.1_Missense_Mutation_p.R255W|IL12RB1_uc010xqb.1_Missense_Mutation_p.R255W|IL12RB1_uc002nhy.3_Missense_Mutation_p.R255W	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	255	Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						AGGGTCAGCCGCCTCCTCCCA	0.602													A	18184347	G	A	18184347	3	1	225	1	0	0	0	0	1	0	0	0	7684	1086	38	1	1394	1	IL12RB1	19	18184347	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	9125476	18184347	40944636	78	15466											
ZNF257	113835	broad.mit.edu	37	chr19	22271312	22271312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataaggtaattcatactagaGagaaaccctacaaatgtgaa	19	9	7	6	0	1	3	1	1	0	2	1	4	1	3	1	1	3	1	1	1	8	6			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:22271312G>A	uc010ecx.3	+	3	929	c.760G>A	c.(760-762)Gag>Aag	p.E254K	ZNF257_uc010ecy.3_Missense_Mutation_p.E222K	NM_033468	NP_258429	Q9Y2Q1	ZN257_HUMAN	Homo sapiens zinc finger protein 257 (ZNF257), mRNA.	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(4)	6		all_lung(12;0.0961)|Lung NSC(12;0.103)				TCATACTAGAGAGAAACCCTA	0.388													A	22271312	G	A	22271312	3	1	225	1	0	0	0	0	1	0	0	0	17901	943	33	2	774	2	ZNF257	19	22271312	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	4086965	22271312	36857671	79	15467											
MEIS3	56917	broad.mit.edu	37	chr19	47920129	47920129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcacctccagggggtgTccccagcccagctccggccc	5	5	12	19	2	1	0	1	0	0	0	4	1	4	0	7	3	2	1	7	3	0	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:47920129T>C	uc002pgq.3	-	2	586	c.520A>G	c.(520-522)Aca>Gca	p.T174A	MEIS3_uc002pgp.3_5'Flank|MEIS3_uc002pgr.3_5'UTR|MEIS3_uc002pgs.3_Missense_Mutation_p.T93A|MEIS3_uc002pgt.3_Missense_Mutation_p.T93A|MEIS3_uc010eld.3_Missense_Mutation_p.T93A|MEIS3_uc002pgw.3_3'UTR	NM_001009813	NP_001009813	Q99687	MEIS3_HUMAN	Homo sapiens Meis homeobox 3 (MEIS3), transcript variant 2, mRNA.	93						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CCAGGGGGTGTCCCCAGCCCA	0.632													C	47920129	T	C	47920129	3	2	225	1	0	0	0	0	1	0	0	0	9544	1667	58	3	1028	3	MEIS3	19	47920129	Missense_Mutation	SNP	T	TCGA-32-1982-01A-01D-1494-08	25648817	47920129	11208854	80	15468											
KLK6	5653	broad.mit.edu	37	chr19	51462468	51462468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttcgtgtatctgcagacGttggtgtagactcctggctt	6	14	12	9	2	1	2	0	0	1	2	3	2	2	2	1	2	1	6	1	2	2	5	rs148571626		TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:51462468G>A	uc002puh.3	-	4	779	c.714C>T	c.(712-714)aaC>aaT	p.N238N	KLK6_uc010eoj.3_Missense_Mutation_p.T101M|KLK6_uc002pui.3_Silent_p.N229N|KLK6_uc002puj.3_Silent_p.N122N|KLK6_uc010ycn.2_Silent_p.N122N|KLK6_uc002pul.3_Silent_p.N229N|KLK6_uc002pum.3_Silent_p.N122N	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	229	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATCTGCAGACGTTGGTGTAGA	0.547													A	51462468	G	A	51462468	2	1	225	1	0	0	0	0	0	0	0	1	8466	1136	40	1		1	KLK6	19	51462468	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3542339	51462468	7666515	81	15469											
NLRP13	126204	broad.mit.edu	37	chr19	56423179	56423179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagcttggagttcttcGtcctccaaaatattaaggtc	12	12	9	8	1	1	1	0	0	1	1	5	3	3	2	2	2	1	2	2	2	6	5	rs140606375	byFrequency	TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:56423179G>A	uc010ygg.2	-	4	2029	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	668							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GGAGTTCTTCGTCCTCCAAAA	0.408													A	56423179	G	A	56423179	2	1	225	1	0	0	0	0	0	0	0	1	10551	1136	40	1		1	NLRP13	19	56423179	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	4960711	56423179	2705804	82	15470											
ZNF543	125919	broad.mit.edu	37	chr19	57840542	57840542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacagatgtgggaagacCttttatgactgcacagactt	12	12	10	7	0	0	4	0	1	0	3	0	5	0	5	1	1	2	2	1	1	3	4			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr19:57840542C>T	uc002qoi.2	+	3	2069	c.1712C>T	c.(1711-1713)cCt>cTt	p.P571L		NM_213598	NP_998763	Q08ER8	ZN543_HUMAN	Homo sapiens zinc finger protein 543 (ZNF543), mRNA.	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTGGGAAGACCTTTTATGACT	0.418													T	57840542	C	T	57840542	3	4	225	1	0	0	0	0	1	0	0	0	18077	681	24	2	1726	2	ZNF543	19	57840542	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	1417363	57840542	1288441	83	15471											
JPH2	57158	broad.mit.edu	37	chr20	42788505	42788505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcggaggccactggagcGttcgctcacgccgaagcccg	7	5	15	14	6	1	0	1	0	0	0	2	3	1	2	3	3	3	3	3	3	2	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr20:42788505G>A	uc002xli.1	-	1	1795	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_020433	NP_065166	Q9BR39	JPH2_HUMAN	Homo sapiens junctophilin 2 (JPH2), transcript variant 1, mRNA.	308					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCACTGGAGCGTTCGCTCACG	0.672													A	42788505	G	A	42788505	3	1	225	1	0	0	0	0	1	0	0	0	8019	1145	40	1	1184	1	JPH2	20	42788505	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		42788505	20237015	84	15472											
COL6A2	1292	broad.mit.edu	37	chr21	47545189	47545189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcattgcaggagtgtgacGtcatgacctacgtgagggag	9	9	16	7	2	1	3	1	3	0	0	1	5	1	5	1	2	3	2	1	2	1	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr21:47545189G>A	uc002zia.1	+	23	1862	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I	COL6A2_uc002zhz.1_Missense_Mutation_p.V594I|COL6A2_uc002zhy.1_Missense_Mutation_p.V594I	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	594	Nonhelical region.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGAGTGTGACGTCATGACCTA	0.687													A	47545189	G	A	47545189	3	1	225	1	0	0	0	0	1	0	0	0	3731	1145	40	1	1870	1	COL6A2	21	47545189	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08		47545189	584706	85	15473											
CABIN1	23523	broad.mit.edu	37	chr22	24561503	24561503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtatgaccgcaggaagtAtctgcgagatgctgaccgcc	9	8	12	12	3	1	3	0	2	1	1	1	5	1	4	4	1	2	4	4	1	3	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chr22:24561503A>G	uc002zzi.1	+	30	5043	c.4916A>G	c.(4915-4917)tAt>tGt	p.Y1639C	CABIN1_uc021wnc.1_Missense_Mutation_p.Y1589C|CABIN1_uc002zzj.1_Missense_Mutation_p.Y1560C|CABIN1_uc002zzl.2_Missense_Mutation_p.Y1639C|CABIN1_uc002zzm.1_Missense_Mutation_p.Y64C	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	1639					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CGCAGGAAGTATCTGCGAGAT	0.612													G	24561503	A	G	24561503	3	3	225	1	0	0	0	0	1	0	0	0	2554	449	16	3	5034	3	CABIN1	22	24561503	Missense_Mutation	SNP	A	TCGA-32-1982-01A-01D-1494-08		24561503	26743063	86	15474											
CXorf59	286464	broad.mit.edu	37	chrX	36103536	36103536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatttatgatgtgctgctCcatttgagtggaaaaatgcc	11	13	9	8	0	0	2	0	2	0	0	1	3	1	3	3	1	3	2	3	1	3	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:36103536C>T	uc004ddk.1	+	4	708	c.522C>T	c.(520-522)ctC>ctT	p.L174L		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	174						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						ATGTGCTGCTCCATTTGAGTG	0.353													T	36103536	C	T	36103536	2	4	225	1	0	0	0	0	0	0	0	1	4148	842	30	2		2	CXorf59	23	36103536	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08		36103536	119167024	87	15475											
HDAC6	10013	broad.mit.edu	37	chrX	48661362	48661362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaaatgaagaagctcGgccaagcaatggaagaagac	19	3	12	7	1	0	4	0	1	0	3	1	5	0	5	1	3	2	3	1	3	9	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:48661362G>A	uc011mmi.1	+	2	273	c.178G>A	c.(178-180)Ggc>Agc	p.G60S	HDAC6_uc004dkr.1_Missense_Mutation_p.G60S|HDAC6_uc004dks.1_Missense_Mutation_p.G60S|HDAC6_uc010nig.1_5'UTR|HDAC6_uc004dkt.1_Missense_Mutation_p.G60S|HDAC6_uc004dku.4_Missense_Mutation_p.G60S|HDAC6_uc011mmj.1_Missense_Mutation_p.G5S|HDAC6_uc011mmk.1_Missense_Mutation_p.G41S	NM_006044	NP_006035	Q9UBN7	HDAC6_HUMAN	Homo sapiens histone deacetylase 6 (HDAC6), mRNA.	60					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GAAGAAGCTCGGCCAAGCAAT	0.488													A	48661362	G	A	48661362	3	1	225	1	0	0	0	0	1	0	0	0	7066	1116	39	1	184	1	HDAC6	23	48661362	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	12557826	48661362	106609198	88	15476											
SMC1A	8243	broad.mit.edu	37	chrX	53439144	53439144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcttcttgattttgtgggagGtgttctccttggctttgatg	3	19	13	6	0	2	2	0	2	2	0	3	3	2	3	1	3	0	3	1	3	0	7			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:53439144G>T	uc004dsg.3	-	5	983	c.914C>A	c.(913-915)aCc>aAc	p.T305N	SMC1A_uc011moe.2_Missense_Mutation_p.T283N|SMC1A_uc011mof.2_Intron	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	305					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTGTGGGAGGTGTTCTCCTT	0.498													T	53439144	G	T	53439144	3	4	225	1	0	0	0	0	1	0	0	0	14875	1261	44	4	2867	4	SMC1A	23	53439144	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	4777782	53439144	101831416	89	15477											
TAF1	6872	broad.mit.edu	37	chrX	70627913	70627913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacctacaaacactccgCgaaaacgtgcgtaaacgcct	14	6	8	13	5	0	0	0	0	0	0	1	2	1	1	3	1	5	1	3	1	6	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:70627913C>T	uc004dzu.4	+	27	4344	c.4293C>T	c.(4291-4293)cgC>cgT	p.R1431R	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.R1452R|TAF1_uc004dzv.4_Silent_p.R605R|TAF1_uc010nld.1_Non-coding_Transcript|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_5'UTR|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1431	Bromo 1.|Interaction with ASF1A and ASF1B.|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R1431S(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AAACACTCCGCGAAAACGTGC	0.443													T	70627913	C	T	70627913	2	4	225	1	0	0	0	0	0	0	0	1	15610	755	27	1		1	TAF1	23	70627913	Silent	SNP	C	TCGA-32-1982-01A-01D-1494-08	17188769	70627913	84642647	90	15478											
PGK1	5230	broad.mit.edu	37	chrX	77378404	77378404	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagatgattattggtggTggaatggcttttaccttcct	9	16	11	5	0	0	2	0	2	0	1	1	4	1	3	2	4	1	1	2	4	4	5			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:77378404T>A	uc004ecz.4	+	6	886	c.714T>A	c.(712-714)ggT>ggA	p.G238G	PGK1_uc011mqq.2_Silent_p.G210G	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	238					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						TTATTGGTGGTGGAATGGCTT	0.398													A	77378404	T	A	77378404	2	1	225	1	0	0	0	0	0	0	0	1	11867	1683	59	5		5	PGK1	23	77378404	Silent	SNP	T	TCGA-32-1982-01A-01D-1494-08	6750491	77378404	77892156	91	15479											
RPA4	29935	broad.mit.edu	37	chrX	96139791	96139791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgtgcatattctggaaaCggtcaatgcacacatgatgc	12	9	9	11	2	2	1	1	1	1	0	2	2	2	2	1	2	4	2	1	2	3	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:96139791C>T	uc004efv.4	+	0	885	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DIAPH2_uc004eft.4_Intron|DIAPH2_uc004efu.4_Intron|DIAPH2_uc004efs.2_Intron	NM_013347	NP_037479	Q13156	RFA4_HUMAN	Homo sapiens replication protein A4, 30kDa (RPA4), mRNA.	161					DNA damage checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair	DNA replication factor A complex|nucleoplasm	single-stranded DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	13						ATTCTGGAAACGGTCAATGCA	0.458								Other identified genes with known or suspected DNA repair function					T	96139791	C	T	96139791	3	4	225	1	0	0	0	0	1	0	0	0	13630	536	19	1	484	1	RPA4	23	96139791	Missense_Mutation	SNP	C	TCGA-32-1982-01A-01D-1494-08	18761387	96139791	59130769	92	15480											
PCDH19	57526	broad.mit.edu	37	chrX	99662858	99662858	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcgagttttctggcacGctcaccgcgtaggtggactc	6	9	15	11	4	2	0	1	0	1	0	3	3	2	2	1	5	0	4	1	5	1	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:99662858G>A	uc010nmz.3	-	0	2414	c.738C>T	c.(736-738)agC>agT	p.S246S	PCDH19_uc004efw.4_Silent_p.S246S|PCDH19_uc004efx.4_Silent_p.S246S	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	246	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TTTCTGGCACGCTCACCGCGT	0.617													A	99662858	G	A	99662858	2	1	225	1	0	0	0	0	0	0	0	1	11590	1078	38	1		1	PCDH19	23	99662858	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	3523067	99662858	55607702	93	15481											
MID2	11043	broad.mit.edu	37	chrX	107084402	107084402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgttgcctgcgggccacGcaccccaacaagaaaccttt	10	6	9	16	3	0	1	0	0	0	1	0	2	0	1	6	1	4	2	6	1	3	2			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:107084402G>A	uc004enl.3	+	1	1080	c.507G>A	c.(505-507)acG>acA	p.T169T	MID2_uc004enk.3_Silent_p.T169T	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	169						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCGGGCCACGCACCCCAACA	0.552													A	107084402	G	A	107084402	2	1	225	1	0	0	0	0	0	0	0	1	9653	1074	38	1		1	MID2	23	107084402	Silent	SNP	G	TCGA-32-1982-01A-01D-1494-08	7421544	107084402	48186158	94	15482											
MAGEA6	4105	broad.mit.edu	37	chrX	151869622	151869622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccctgacctggagtctgaGttccaagcagcactcagtag	9	10	10	12	0	2	2	1	2	1	0	4	3	4	3	3	1	2	4	3	1	2	3			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:151869622G>T	uc022chf.1	+	0	312	c.312G>T	c.(310-312)gaG>gaT	p.E104D	MAGEA6_uc004ffq.1_Missense_Mutation_p.E104D|MAGEA6_uc004ffr.1_Missense_Mutation_p.E104D	NM_175868	NP_787064	P43360	MAGA6_HUMAN	Homo sapiens melanoma antigen family A, 6 (MAGEA6), transcript variant 2, mRNA.	104							protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTCTGAGTTCCAAGCAG	0.547													T	151869622	G	T	151869622	3	4	225	1	0	0	0	0	1	0	0	0	9243	1020	36	4	314	4	MAGEA6	23	151869622	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	44785220	151869622	3400938	95	15483											
DKC1	1736	broad.mit.edu	37	chrX	154004585	154004585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtctggagagcggggccGagcctggagatggggtgtgt	5	8	21	7	2	1	2	0	0	1	2	1	5	1	2	2	7	2	0	2	7	0	0			TCGA-32-1982-01A-01D-1494-08	TCGA-32-1982-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9cf7c4cb-ce19-4b79-9163-b74369603e22	a6880916-1bae-4099-ba43-11216bc81b25	g.chrX:154004585G>A	uc004fmm.3	+	13	1672	c.1462G>A	c.(1462-1464)Gag>Aag	p.E488K	DKC1_uc010nvf.3_Missense_Mutation_p.E483K	NM_001363	NP_001354	O60832	DKC1_HUMAN	Homo sapiens dyskeratosis congenita 1, dyskerin (DKC1), transcript variant 1, mRNA.	488	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GAGCGGGGCCGAGCCTGGAGA	0.532									Congenital Dyskeratosis				A	154004585	G	A	154004585	3	1	225	1	0	0	0	0	1	0	0	0	4581	1059	37	1	1516	1	DKC1	23	154004585	Missense_Mutation	SNP	G	TCGA-32-1982-01A-01D-1494-08	2134963	154004585	1265975	96	15484											
RPA2	6118	broad.mit.edu	37	chr1	28223599	28223599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcattcatatcctccagggGcatgatcttaaaggctacca	11	11	7	12	0	3	1	2	1	1	0	5	1	5	1	3	3	1	2	3	3	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:28223599G>A	uc001bpe.1	-	5	724	c.442C>T	c.(442-444)Ccc>Tcc	p.P148S	RPA2_uc010ofp.1_Missense_Mutation_p.P52S	NM_002946	NP_002937	P15927	RFA2_HUMAN	Homo sapiens replication protein A2, 32kDa (RPA2), mRNA.	148					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|regulation of double-strand break repair via homologous recombination|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor A complex|PML body	protein phosphatase binding|single-stranded DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(3)|skin(1)	11		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0429)|OV - Ovarian serous cystadenocarcinoma(117;3.62e-24)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;1.75e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00294)|STAD - Stomach adenocarcinoma(196;0.00308)|BRCA - Breast invasive adenocarcinoma(304;0.00613)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTCCAGGGGCATGATCTTA	0.383								Direct reversal of damage;Nucleotide excision repair (NER)					A	28223599	G	A	28223599	3	1	226	1	0	0	0	0	1	0	0	0	13628	1203	42	2	386	2	RPA2	1	28223599	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		28223599	221027022	1	15485											
C8B	732	broad.mit.edu	37	chr1	57417728	57417728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtctcttacctgtggcGtgtagctttccacattgtag	5	15	11	10	1	1	0	0	0	1	0	3	0	2	0	2	2	2	4	2	2	3	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:57417728G>A	uc001cyp.3	-	4	726	c.659C>T	c.(658-660)aCg>aTg	p.T220M	C8B_uc010oon.2_Missense_Mutation_p.T158M|C8B_uc010ooo.2_Missense_Mutation_p.T168M	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	220	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TACCTGTGGCGTGTAGCTTTC	0.562													A	57417728	G	A	57417728	3	1	226	1	0	0	0	0	1	0	0	0	2441	1145	40	1	1148	1	C8B	1	57417728	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	29194129	57417728	191832893	2	15486											
SGIP1	84251	broad.mit.edu	37	chr1	67206953	67206953	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaataatgtgtttttttttAggggtgggttctttgttggc	5	21	13	2	0	1	0	0	0	1	0	1	0	1	0	0	4	0	4	0	4	3	10			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:67206953A>T	uc001dcr.3	+	24	2517	c.2300_splice	c.e24-2	p.G767_splice	SGIP1_uc010opd.2_Splice_Site_p.G367_splice|SGIP1_uc001dcs.3_Splice_Site_p.G367_splice|SGIP1_uc001dct.3_Splice_Site_p.G369_splice|SGIP1_uc009wat.3_Splice_Site_p.G561_splice|SGIP1_uc001dcu.3_Splice_Site_p.G272_splice	NM_032291	NP_115667	Q9BQI5	SGIP1_HUMAN	Homo sapiens SH3-domain GRB2-like (endophilin) interacting protein 1 (SGIP1), mRNA.	767					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						GTTTTTTTTTAGGGGTGGGTT	0.373													T	67206953	A	T	67206953	5	4	226	1	0	0	0	0	0	0	1	0	14299	434	15	5	2392	5	SGIP1	1	67206953	Splice_Site	SNP	A	TCGA-32-1986-01A-01D-1494-08	9789225	67206953	182043668	3	15487											
TDRD10	126668	broad.mit.edu	37	chr1	154479756	154479756	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaactctctgataaactGtttgggaagaatggagtgtt	11	12	10	8	0	1	2	0	1	1	1	2	4	1	4	2	2	2	2	2	2	5	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:154479756G>C	uc009wow.3	+	2	880	c.42G>C	c.(40-42)ctG>ctC	p.L14L	TDRD10_uc001ffd.3_Silent_p.L14L	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	14							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CTGATAAACTGTTTGGGAAGA	0.502													C	154479756	G	C	154479756	2	2	226	1	0	0	0	0	0	0	0	1	15831	1364	48	4		4	TDRD10	1	154479756	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	87272803	154479756	94770865	4	15488											
SLAMF7	57823	broad.mit.edu	37	chr1	160718192	160718192	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttcccagatggaggctaCtccctgaagctcagcaaact	11	8	9	13	0	1	2	1	1	0	1	3	4	3	3	2	2	4	3	2	2	3	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:160718192C>A	uc001fwq.3	+	1	279	c.264C>A	c.(262-264)taC>taA	p.Y88*	SLAMF7_uc010pjn.2_Intron|SLAMF7_uc001fws.3_Intron|SLAMF7_uc001fwr.3_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjo.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjp.2_Intron|SLAMF7_uc010pjq.2_Nonsense_Mutation_p.Y88*|SLAMF7_uc010pjr.2_Intron	NM_021181	NP_067004	Q9NQ25	SLAF7_HUMAN	Homo sapiens SLAM family member 7 (SLAMF7), mRNA.	88					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ATGGAGGCTACTCCCTGAAGC	0.507													A	160718192	C	A	160718192	4	1	226	1	0	0	0	0	0	1	0	0	14463	576	20	4	270	4	SLAMF7	1	160718192	Nonsense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	6238436	160718192	88532429	5	15489											
USH2A	7399	broad.mit.edu	37	chr1	216052106	216052106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcaccttctcttacCtcaaattaggtccatttggc	9	15	5	12	0	4	0	3	0	1	0	6	0	5	0	3	2	1	0	3	2	4	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:216052106C>A	uc001hku.1	-	42	8945	c.8558_splice	c.e42+1	p.R2853_splice		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	2853	Fibronectin type-III 15.				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)		CTTCTCTTACCTCAAATTAGG	0.393										HNSCC(13;0.011)			A	216052106	C	A	216052106	3	1	226	1	0	0	0	0	1	0	0	0	17138	695	24	4	7174	4	USH2A	1	216052106	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	55333914	216052106	33198515	6	15490											
OBSCN	84033	broad.mit.edu	37	chr1	228444458	228444458	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcaggcccagacggaGgtgatgtggtacaaggacgg	9	6	18	8	2	1	2	1	1	0	1	1	4	1	4	1	7	1	2	1	7	2	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr1:228444458G>A	uc009xez.1	+	14	4460	c.4416G>A	c.(4414-4416)gaG>gaA	p.E1472E	OBSCN_uc001hsn.3_Silent_p.E1472E	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	1472	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCAGACGGAGGTGATGTGGT	0.657													A	228444458	G	A	228444458	2	1	226	1	0	0	0	0	0	0	0	1	10888	991	35	2		2	OBSCN	1	228444458	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	12392352	228444458	20806163	7	15491											
MARCO	8685	broad.mit.edu	37	chr2	119732140	119732140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagtcaagggagaggcGggtgagtaggtgctgggtat	8	7	21	5	2	1	2	1	1	0	1	1	4	1	3	1	6	1	3	1	6	3	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:119732140G>A	uc002tln.1	+	6	745	c.613_splice	c.e6+1	p.G205_splice	MARCO_uc010yyf.1_Splice_Site_p.G127_splice	NM_006770	NP_006761	Q9UEW3	MARCO_HUMAN	Homo sapiens macrophage receptor with collagenous structure (MARCO), mRNA.	205	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						AGGGAGAGGCGGGTGAGTAGG	0.572													A	119732140	G	A	119732140	2	1	226	1	0	0	0	0	0	0	0	1	9386	1130	39	1		1	MARCO	2	119732140	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08		119732140	123467233	8	15492											
C2orf80	389073	broad.mit.edu	37	chr2	209036767	209036767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaacatggcaaaggggtgCaaggagaggcagagagatga	15	5	17	4	0	0	4	0	1	0	3	0	6	0	4	0	5	2	4	0	5	3	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr2:209036767C>T	uc002vcr.3	-	6	571	c.399G>A	c.(397-399)ttG>ttA	p.L133L		NM_001099334	NP_001092804	Q0P641	CB080_HUMAN	Homo sapiens chromosome 2 open reading frame 80 (C2orf80), mRNA.	133										endometrium(2)|large_intestine(3)|lung(6)|skin(2)	13						CAAAGGGGTGCAAGGAGAGGC	0.478													T	209036767	C	T	209036767	2	4	226	1	0	0	0	0	0	0	0	1	2218	709	25	2		2	C2orf80	2	209036767	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	89304627	209036767	34162606	9	15493											
RNF168	165918	broad.mit.edu	37	chr3	196214417	196214417	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcactggctttgttttcTtcttcctcgctggcccgtcg	1	18	8	14	3	4	0	1	0	3	0	7	0	5	0	2	2	0	3	2	2	0	6			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr3:196214417T>G	uc003fwq.3	-	2	1006	c.411A>C	c.(409-411)gaA>gaC	p.E137D	RNF168_uc010iah.3_5'UTR	NM_152617	NP_689830	Q8IYW5	RN168_HUMAN	Homo sapiens ring finger protein 168 (RNF168), mRNA.	137	Glu-rich.				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTTTGTTTTCTTCTTCCTCGC	0.433													G	196214417	T	G	196214417	3	3	226	1	0	0	0	0	1	0	0	0	13550	1606	56	5	1320	5	RNF168	3	196214417	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08		196214417	1808013	10	15494											
PPEF2	5470	broad.mit.edu	37	chr4	76811138	76811138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgaatgcttctaccaggGcagttgcatggtcaggcagg	8	10	14	9	0	3	1	1	1	2	0	3	1	3	1	1	4	3	5	1	4	2	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:76811138G>A	uc003hix.3	-	4	746	c.389C>T	c.(388-390)gCc>gTc	p.A130V	PPEF2_uc003hiy.3_Non-coding_Transcript|PPEF2_uc003hiz.1_Missense_Mutation_p.A130V	NM_006239	NP_006230	O14830	PPE2_HUMAN	Homo sapiens protein phosphatase, EF-hand calcium binding domain 2 (PPEF2), mRNA.	130	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTCTACCAGGGCAGTTGCATG	0.522													A	76811138	G	A	76811138	3	1	226	1	0	0	0	0	1	0	0	0	12385	1203	42	2	1924	2	PPEF2	4	76811138	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		76811138	114343138	11	15495											
FHDC1	85462	broad.mit.edu	37	chr4	153897134	153897134	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggaccctgaccgcctcAgagaacgagagcatgcgcaa	11	4	13	13	4	1	3	1	1	0	2	1	6	1	4	3	1	4	2	3	1	2	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:153897134A>G	uc003inf.2	+	10	2766	c.2691A>G	c.(2689-2691)tcA>tcG	p.S897S		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	897					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TGACCGCCTCAGAGAACGAGA	0.692													G	153897134	A	G	153897134	2	3	226	1	0	0	0	0	0	0	0	1	5925	175	7	3		3	FHDC1	4	153897134	Silent	SNP	A	TCGA-32-1986-01A-01D-1494-08	77085996	153897134	37257142	12	15496											
FSTL5	56884	broad.mit.edu	37	chr4	162680612	162680614	+	In_Frame_Del	DEL	ATC	ATC	-																															aggtgcttgtcagcattaaaAtcatcatatttcaatagaac																										TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr4:162680612_162680614delATC	uc003iqh.3	-	5	1112_1114	c.676_678delGAT	c.(676-678)gatdel	p.D226del	FSTL5_uc003iqi.3_In_Frame_Del_p.D225del|FSTL5_uc010iqv.3_In_Frame_Del_p.D225del	NM_020116	NP_064501	Q8N475	FSTL5_HUMAN	Homo sapiens follistatin-like 5 (FSTL5), transcript variant 1, mRNA.	226	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CAGCATTAAAATCATCATATTTC	0.34													-	162680614	ATC	-	162680612	7	5	226	1	0	1	0	1	0	0	0	0	6132	98	4	0	1909	0	FSTL5	4	162680612	In_Frame_Del	DEL	ATC	TCGA-32-1986-01A-01D-1494-08	8783478	162680612	28473664	13	15497											
ADCY2	108	broad.mit.edu	37	chr5	7706894	7706894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagttgatatcaacatgCgcgtgggcgtgcattctggg	7	11	15	8	3	2	1	1	1	1	0	2	2	2	2	0	3	3	2	0	3	2	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:7706894C>T	uc003jdz.1	+	7	1214	c.1147C>T	c.(1147-1149)Cgc>Tgc	p.R383C	ADCY2_uc011cmo.1_Missense_Mutation_p.R203C	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	383					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TATCAACATGCGCGTGGGCGT	0.473													T	7706894	C	T	7706894	3	4	226	1	0	0	0	0	1	0	0	0	294	768	27	1	1177	1	ADCY2	5	7706894	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		7706894	173208366	14	15498											
C6	729	broad.mit.edu	37	chr5	41149449	41149449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctaactggcggccGtcttggcaggaaccaatatg	9	9	10	13	2	2	0	0	0	2	0	2	1	2	1	4	4	2	1	4	4	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:41149449G>A	uc003jmk.2	-	16	2727	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_uc003jml.1_Silent_p.D839D	NM_000065	NP_001108603	P13671	CO6_HUMAN	Homo sapiens complement component 6 (C6), transcript variant 1, mRNA.	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													A	41149449	G	A	41149449	2	1	226	1	0	0	0	0	0	0	0	1	2337	1136	40	1		1	C6	5	41149449	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	33442555	41149449	139765811	15	15499											
CSF2	1437	broad.mit.edu	37	chr5	131409540	131409540	+	Frame_Shift_Del	DEL	C	C	-																															tggctgcagagcctgctgctCttgggcactgtggcctgcag																										TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:131409540delC	uc003kwf.3	+	0	56	c.24delC	c.(22-24)ctcfs	p.L8fs		NM_000758	NP_000749	P04141	CSF2_HUMAN	Homo sapiens colony stimulating factor 2 (granulocyte-macrophage) (CSF2), mRNA.	8					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	GCCTGCTGCTCTTGGGCACTG	0.597													-	131409540	C	-	131409540	7	5	226	1	0	1	0	1	0	0	0	0	3966	900	32	0	26	0	CSF2	5	131409540	Frame_Shift_Del	DEL	C	TCGA-32-1986-01A-01D-1494-08	90260091	131409540	49505720	16	15500											
PCDHB7	56129	broad.mit.edu	37	chr5	140553608	140553608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcctgaagccatctgtcGaaaacttctatactctggta	11	13	6	11	1	4	1	1	1	3	0	6	2	5	1	2	1	3	1	2	1	6	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:140553608G>A	uc003lit.3	+	0	1366	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	398	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E398K(2)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCCATCTGTCGAAAACTTCTA	0.493													A	140553608	G	A	140553608	3	1	226	1	0	0	0	0	1	0	0	0	11623	1059	37	1	1194	1	PCDHB7	5	140553608	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	9144068	140553608	40361652	17	15501											
GEMIN5	25929	broad.mit.edu	37	chr5	154311130	154311130	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcccgttggtaatttcAgcttcttctatgagataggt	8	16	9	8	1	3	1	1	1	2	1	4	2	4	1	1	2	1	4	1	2	3	8			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:154311130A>G	uc003lvx.3	-	4	752	c.669T>C	c.(667-669)gcT>gcC	p.A223A	GEMIN5_uc011ddk.1_Silent_p.A222A	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	223					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGGTAATTTCAGCTTCTTCTA	0.358													G	154311130	A	G	154311130	2	3	226	1	0	0	0	0	0	0	0	1	6387	175	7	3		3	GEMIN5	5	154311130	Silent	SNP	A	TCGA-32-1986-01A-01D-1494-08	13757522	154311130	26604130	18	15502											
GABRG2	2566	broad.mit.edu	37	chr5	161524703	161524703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagacgtttgaaatttaaCagcaccattaaagtcctccg	14	10	7	10	2	0	2	0	1	0	1	2	3	2	2	3	0	2	2	3	0	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:161524703C>A	uc010jjc.3	+	3	745	c.387C>A	c.(385-387)aaC>aaA	p.N129K	GABRG2_uc003lyy.4_Missense_Mutation_p.N129K|GABRG2_uc003lyz.4_Missense_Mutation_p.N129K|GABRG2_uc011dej.2_Missense_Mutation_p.N34K	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	129					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		TGAAATTTAACAGCACCATTA	0.353													A	161524703	C	A	161524703	3	1	226	1	0	0	0	0	1	0	0	0	6224	477	17	4	401	4	GABRG2	5	161524703	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	7213573	161524703	19390557	19	15503											
ODZ2	57451	broad.mit.edu	37	chr5	167626105	167626105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgggcagaatcccatcGtgcctgagacccaggtagga	9	6	12	14	1	0	2	0	1	0	2	2	4	1	3	5	3	1	2	5	3	2	1	rs140215976	by1000genomes	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:167626105G>A	uc010jjd.3	+	15	3121	c.3121G>A	c.(3121-3123)Gtg>Atg	p.V1041M	ODZ2_uc003lzr.4_Missense_Mutation_p.V818M|ODZ2_uc003lzt.4_Missense_Mutation_p.V414M|ODZ2_uc010jje.3_Missense_Mutation_p.V312M	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.									p.Q1040*(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		GAATCCCATCGTGCCTGAGAC	0.587													A	167626105	G	A	167626105	3	1	226	1	0	0	0	0	1	0	0	0	10911	1145	40	1	3183	1	ODZ2	5	167626105	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	6101402	167626105	13289155	20	15504											
ADAMTS2	9509	broad.mit.edu	37	chr5	178556986	178556986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgcagcgtctcccggcCgtcctcgtctctgtactccc	2	11	10	18	4	3	0	0	0	3	0	8	0	5	0	4	2	3	2	4	2	1	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr5:178556986C>T	uc003mjw.3	-	15	2506	c.2404G>A	c.(2404-2406)Ggc>Agc	p.G802S		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	802	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTCTCCCGGCCGTCCTCGTCT	0.602													T	178556986	C	T	178556986	3	4	226	1	0	0	0	0	1	0	0	0	265	652	23	1	1259	1	ADAMTS2	5	178556986	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	10930881	178556986	2358274	21	15505											
PCLO	27445	broad.mit.edu	37	chr7	82764629	82764629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcatcagcaacaggggccTtgtcctgctcagatgggaca	10	9	11	11	0	3	1	3	0	0	1	4	2	4	2	2	3	3	2	2	3	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:82764629T>C	uc003uhx.2	-	2	2526	c.2237A>G	c.(2236-2238)aAg>aGg	p.K746R	PCLO_uc003uhv.2_Missense_Mutation_p.K746R	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	692	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						AACAGGGGCCTTGTCCTGCTC	0.512													C	82764629	T	C	82764629	3	2	226	1	0	0	0	0	1	0	0	0	11659	1609	56	3	13300	3	PCLO	7	82764629	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08		82764629	76374034	22	15506											
GRM3	2913	broad.mit.edu	37	chr7	86415655	86415655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactcagtgataagtcgCgctatgattactttgccagg	11	11	9	10	2	1	2	1	2	0	0	2	2	1	2	2	1	3	1	2	1	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:86415655C>T	uc003uid.3	+	2	1646	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	GRM3_uc010lef.3_Missense_Mutation_p.R181C|GRM3_uc010leg.3_Missense_Mutation_p.R55C|GRM3_uc010leh.3_Intron	NM_000840	NP_000831	Q14832	GRM3_HUMAN	Homo sapiens glutamate receptor, metabotropic 3 (GRM3), mRNA.	183					synaptic transmission	integral to plasma membrane		p.R183C(2)|p.S182L(1)		NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGATAAGTCGCGCTATGATTA	0.562													T	86415655	C	T	86415655	3	4	226	1	0	0	0	0	1	0	0	0	6853	768	27	1	553	1	GRM3	7	86415655	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	3651026	86415655	72723008	23	15507											
CALD1	800	broad.mit.edu	37	chr7	134552500	134552500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccatggatgattttgagCgtcgcagagaacttagaagg	13	9	12	7	2	0	4	0	2	0	2	1	6	0	5	1	2	2	1	1	2	3	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:134552500C>T	uc003vrz.3	+	2	482	c.16C>T	c.(16-18)Cgt>Tgt	p.R6C	CALD1_uc003vry.3_Missense_Mutation_p.R6C|CALD1_uc003vsb.3_Missense_Mutation_p.R6C|CALD1_uc011kpt.2_5'UTR|CALD1_uc010lmm.3_Missense_Mutation_p.R6C	NM_033138	NP_149129	Q05682	CALD1_HUMAN	Homo sapiens caldesmon 1 (CALD1), transcript variant 1, mRNA.	6					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGATTTTGAGCGTCGCAGAGA	0.433													T	134552500	C	T	134552500	3	4	226	1	0	0	0	0	1	0	0	0	2607	768	27	1	18	1	CALD1	7	134552500	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	48136845	134552500	24586163	24	15508											
MGAM	8972	broad.mit.edu	37	chr7	141747587	141747587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatcttgttccccacagtcGaaagaaccctcttggtctta	10	12	7	12	1	3	1	0	0	3	1	5	3	4	1	3	1	1	1	3	1	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:141747587G>A	uc003vwy.3	+	21	2555	c.2501G>A	c.(2500-2502)cGa>cAa	p.R834Q		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	834	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity	p.R834Q(6)		cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCCACAGTCGAAAGAACCCT	0.413													A	141747587	G	A	141747587	3	1	226	1	0	0	0	0	1	0	0	0	9616	1058	37	1	2583	1	MGAM	7	141747587	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	7195087	141747587	17391076	25	15509											
AGAP3	116988	broad.mit.edu	37	chr7	150840450	150840450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagaaggaacgctggataCgggccaagtatgaacagaag	16	4	15	6	2	0	3	0	1	0	2	0	6	0	5	1	4	3	2	1	4	7	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr7:150840450C>T	uc003wjg.1	+	16	2299	c.2296C>T	c.(2296-2298)Cgg>Tgg	p.R766W	AGAP3_uc003wje.1_Missense_Mutation_p.R435W|AGAP3_uc003wjj.1_Missense_Mutation_p.R265W|AGAP3_uc003wjk.1_Missense_Mutation_p.R184W	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACGCTGGATACGGGCCAAGTA	0.622													T	150840450	C	T	150840450	3	4	226	1	0	0	0	0	1	0	0	0	369	527	19	1	2429	1	AGAP3	7	150840450	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	9092863	150840450	8298213	26	15510											
CDCA2	157313	broad.mit.edu	37	chr8	25319665	25319665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgattcgtttcattgctCggcagcaaaatataaagaat	14	13	7	7	2	2	2	1	1	1	1	4	2	2	2	0	1	2	4	0	1	6	5	rs142497699	byFrequency	TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr8:25319665C>T	uc003xep.1	+	3	805	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	DOCK5_uc003xek.3_Intron|CDCA2_uc011lae.1_Missense_Mutation_p.R110W|CDCA2_uc003xeq.1_Missense_Mutation_p.R95W	NM_152562	NP_689775	Q69YH5	CDCA2_HUMAN	Homo sapiens cell division cycle associated 2 (CDCA2), mRNA.	110					cell division|mitosis	cytoplasm|nucleus				breast(3)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(7)|lung(10)|ovary(1)|prostate(3)	35		all_cancers(63;0.0378)|Ovarian(32;0.000878)|all_epithelial(46;0.0162)|Breast(100;0.0164)|Prostate(55;0.191)		UCEC - Uterine corpus endometrioid carcinoma (27;0.022)|Epithelial(17;1.37e-11)|Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0443)		TTTCATTGCTCGGCAGCAAAA	0.423													T	25319665	C	T	25319665	3	4	226	1	0	0	0	0	1	0	0	0	3116	875	31	1	338	1	CDCA2	8	25319665	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		25319665	121044357	27	15511											
CUBN	8029	broad.mit.edu	37	chr10	16870839	16870839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggatggagagctggCgttgggcccatcatagagtg	9	8	16	8	1	1	3	1	0	0	3	2	5	2	4	2	4	1	2	2	4	1	2	rs139051724		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr10:16870839C>T	uc001ioo.3	-	65	10781	c.10729G>A	c.(10729-10731)Gcc>Acc	p.A3577T		NM_001081	NP_001072	O60494	CUBN_HUMAN	Homo sapiens cubilin (intrinsic factor-cobalamin receptor) (CUBN), mRNA.	3577	CUB 27.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.N3576N(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGAGAGCTGGCGTTGGGCCCA	0.443											OREG0020047	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	16870839	C	T	16870839	3	4	226	1	0	0	0	0	1	0	0	0	4084	768	27	1	150	1	CUBN	10	16870839	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		16870839	118663908	28	15512											
OR52M1	119772	broad.mit.edu	37	chr11	4566817	4566817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctgcaacccactaCgtcatagcatggtgctcact	9	10	8	14	1	3	0	2	0	1	0	3	0	3	0	2	2	5	3	2	2	3	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:4566817C>T	uc010qyf.2	+	0	397	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAACCCACTACGTCATAGCAT	0.522													T	4566817	C	T	4566817	3	4	226	1	0	0	0	0	1	0	0	0	11202	536	19	1	399	1	OR52M1	11	4566817	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		4566817	130439699	29	15513											
OR4S2	219431	broad.mit.edu	37	chr11	55419151	55419151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtacttttatgtacatgCgccctgatacgaccttttca	8	15	6	12	2	1	1	1	1	0	0	1	2	1	1	3	0	4	2	3	0	4	7			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:55419151C>T	uc001nhs.1	+	0	772	c.772C>T	c.(772-774)Cgc>Tgc	p.R258C		NM_001004059	NP_001004059	Q8NH73	OR4S2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily S, member 2 (OR4S2), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R258R(1)		endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				TATGTACATGCGCCCTGATAC	0.463													T	55419151	C	T	55419151	3	4	226	1	0	0	0	0	1	0	0	0	11159	768	27	1	774	1	OR4S2	11	55419151	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	50852334	55419151	79587365	30	15514											
SLC25A45	283130	broad.mit.edu	37	chr11	65143941	65143941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcattgacgggaaaggcGcgggcactgttgatggtgac	10	7	16	8	3	0	3	0	3	0	0	0	4	0	4	0	4	1	3	0	4	1	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:65143941G>A	uc001odr.1	-	6	1008	c.804C>T	c.(802-804)cgC>cgT	p.R268R	SLC25A45_uc009yqi.1_Silent_p.R206R|SLC25A45_uc001odq.1_Silent_p.R244R|SLC25A45_uc001ods.1_Silent_p.R226R|SLC25A45_uc001odt.1_Silent_p.R226R	NM_182556	NP_001070709	Q8N413	S2545_HUMAN	Homo sapiens solute carrier family 25, member 45 (SLC25A45), transcript variant 1, mRNA.	268					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding	p.R268C(1)		endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14						CGGGAAAGGCGCGGGCACTGT	0.617													A	65143941	G	A	65143941	2	1	226	1	0	0	0	0	0	0	0	1	14604	1074	38	1		1	SLC25A45	11	65143941	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	9724790	65143941	69862575	31	15515											
CD3G	917	broad.mit.edu	37	chr11	118223167	118223167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccaccttcaaggaaacCagttgaggaggaattgaact	15	7	10	9	0	1	2	1	2	0	0	1	5	1	5	3	3	3	1	3	3	4	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr11:118223167C>A	uc001psu.2	+	5	612	c.532C>A	c.(532-534)Cag>Aag	p.Q178K	CD3G_uc009zaa.1_Missense_Mutation_p.Q118K	NM_000073	NP_000064	P09693	CD3G_HUMAN	Homo sapiens CD3g molecule, gamma (CD3-TCR complex) (CD3G), mRNA.	178					establishment or maintenance of cell polarity|protein complex assembly|protein transport|regulation of apoptosis|T cell activation|T cell costimulation|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	protein heterodimerization activity|receptor signaling complex scaffold activity|T cell receptor binding|transmembrane receptor activity			breast(2)|kidney(1)|large_intestine(2)|skin(1)	6	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCAAGGAAACCAGTTGAGGAG	0.443													A	118223167	C	A	118223167	3	1	226	1	0	0	0	0	1	0	0	0	3043	595	21	4	554	4	CD3G	11	118223167	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	53079226	118223167	16783349	32	15516											
KCNA6	3742	broad.mit.edu	37	chr12	4919731	4919731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctctgggccggccagggGcatcgccatcgtctccgtgt	4	8	15	14	4	2	0	0	0	2	0	5	1	2	0	4	4	1	2	4	4	0	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:4919731G>C	uc001qng.3	+	0	1390	c.524G>C	c.(523-525)gGc>gCc	p.G175A	KCNA6_uc021qtr.1_Missense_Mutation_p.G175A	NM_002235	NP_002226	P17658	KCNA6_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 6 (KCNA6), mRNA.	175						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R174R(1)		NS(1)|breast(3)|endometrium(5)|large_intestine(6)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(5)	49						CCGGCCAGGGGCATCGCCATC	0.597										HNSCC(72;0.22)			C	4919731	G	C	4919731	3	2	226	1	0	0	0	0	1	0	0	0	8065	1203	42	4	526	4	KCNA6	12	4919731	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		4919731	128932164	33	15517											
NANOG	79923	broad.mit.edu	37	chr12	7945667	7945667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaaaaaaggaagacaaggtCccggtcaagaaacagaagac	20	2	11	8	1	1	4	1	0	0	4	2	5	2	5	1	3	1	1	1	3	8	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:7945667C>T	uc009zfy.1	+	1	489	c.273C>T	c.(271-273)gtC>gtT	p.V91V		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	91					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		AAGACAAGGTCCCGGTCAAGA	0.478													T	7945667	C	T	7945667	2	4	226	1	0	0	0	0	0	0	0	1	10226	842	30	2		2	NANOG	12	7945667	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	3025936	7945667	125906228	34	15518											
FAM60A	58516	broad.mit.edu	37	chr12	31451078	31451078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagaactggaggacttagCtctgcaaatacagcagccct	12	8	10	11	1	1	1	0	0	1	1	2	4	1	3	1	2	6	3	1	2	4	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:31451078C>T	uc001rkc.3	-	0	378	c.136G>A	c.(136-138)Gct>Act	p.A46T	FAM60A_uc010sjz.2_Missense_Mutation_p.A21T|FAM60A_uc001rkd.3_Missense_Mutation_p.A21T|FAM60A_uc010ska.2_Missense_Mutation_p.A21T|FAM60A_uc001rke.3_Missense_Mutation_p.A21T|FAM60A_uc010skb.2_Intron	NM_021238	NP_067061	Q9NP50	FA60A_HUMAN	Homo sapiens family with sequence similarity 60, member A (FAM60A), transcript variant 2, mRNA.	21										large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					GAGGACTTAGCTCTGCAAATA	0.418													T	31451078	C	T	31451078	3	4	226	1	0	0	0	0	1	0	0	0	5645	797	28	2	624	2	FAM60A	12	31451078	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	23505411	31451078	102400817	35	15519											
TAOK3	51347	broad.mit.edu	37	chr12	118599775	118599775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctctcgggtggactcgtCgtgccggattagcatggcat	6	11	14	10	4	1	0	0	0	1	0	4	2	1	2	1	4	3	3	1	4	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:118599775C>T	uc001twx.3	-	17	2252	c.1957G>A	c.(1957-1959)Gac>Aac	p.D653N	TAOK3_uc001twv.3_Missense_Mutation_p.D193N|TAOK3_uc001tww.3_Missense_Mutation_p.D483N|TAOK3_uc001twy.4_Missense_Mutation_p.D653N	NM_016281	NP_057365	Q9H2K8	TAOK3_HUMAN	Homo sapiens TAO kinase 3 (TAOK3), mRNA.	653					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGGACTCGTCGTGCCGGATT	0.507													T	118599775	C	T	118599775	3	4	226	1	0	0	0	0	1	0	0	0	15646	884	31	1	755	1	TAOK3	12	118599775	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	87148697	118599775	15252120	36	15520											
ABCB9	23457	broad.mit.edu	37	chr12	123430663	123430663	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaggtacacctctgccTcctcctcctcattggcgaag	6	10	8	17	2	2	0	1	0	1	0	6	1	6	0	6	2	2	2	6	2	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr12:123430663T>G	uc001udm.4	-	5	1470	c.1160A>C	c.(1159-1161)gAg>gCg	p.E387A	ABCB9_uc021rfo.1_Missense_Mutation_p.E387A|ABCB9_uc021rfp.1_Missense_Mutation_p.E387A|ABCB9_uc010tai.2_5'Flank|ABCB9_uc001udo.4_Missense_Mutation_p.E387A|ABCB9_uc010taj.2_Missense_Mutation_p.E387A|ABCB9_uc001udq.3_Missense_Mutation_p.E169A|ABCB9_uc021rfq.1_Missense_Mutation_p.E387A|ABCB9_uc001udr.3_Missense_Mutation_p.E387A	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	387	ABC transmembrane type-1.|Poly-Glu.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		CACCTCTGCCTCCTCCTCCTC	0.602													G	123430663	T	G	123430663	3	3	226	1	0	0	0	0	1	0	0	0	48	1551	54	5	1168	5	ABCB9	12	123430663	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08	4830888	123430663	10421232	37	15521											
FRMD6	122786	broad.mit.edu	37	chr14	52179253	52179253	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttcccctggacaaatgttgGaaaattggtgtttgtggtaa	10	15	11	5	0	0	0	0	0	0	0	1	2	1	2	2	4	0	3	2	4	4	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:52179253G>T	uc001wzd.3	+	8	1118	c.833G>T	c.(832-834)gGa>gTa	p.G278V	FRMD6_uc001wzb.3_Missense_Mutation_p.G270V|FRMD6_uc001wzc.3_Missense_Mutation_p.G270V|FRMD6_uc001wze.3_Missense_Mutation_p.G201V|FRMD6_uc001wzf.3_5'Flank	NM_152330	NP_689543	Q96NE9	FRMD6_HUMAN	Homo sapiens FERM domain containing 6 (FRMD6), transcript variant 2, mRNA.	278	FERM.					cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					ACAAATGTTGGAAAATTGGTG	0.284													T	52179253	G	T	52179253	3	4	226	1	0	0	0	0	1	0	0	0	6106	1174	41	4	839	4	FRMD6	14	52179253	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		52179253	55170287	38	15522											
PLEKHH1	57475	broad.mit.edu	37	chr14	68026397	68026397	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaatgggtgacactcAagttggcaaaggtgggttgg	11	9	16	5	0	2	1	2	1	0	0	2	2	2	2	0	6	0	3	0	6	4	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:68026397A>C	uc001xjl.1	+	4	554	c.412A>C	c.(412-414)Aag>Cag	p.K138Q		NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	138						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		GGTGACACTCAAGTTGGCAAA	0.537													C	68026397	A	C	68026397	3	2	226	1	0	0	0	0	1	0	0	0	12153	131	5	5	426	5	PLEKHH1	14	68026397	Missense_Mutation	SNP	A	TCGA-32-1986-01A-01D-1494-08	15847144	68026397	39323143	39	15523											
FBLN5	10516	broad.mit.edu	37	chr14	92403398	92403398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcagctgctgggtacGgacctgagtagggggtcgag	6	7	21	7	2	0	1	0	1	0	0	1	3	0	2	1	6	3	5	1	6	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr14:92403398G>A	uc010aue.3	-	4	868	c.395C>T	c.(394-396)cCg>cTg	p.P132L	FBLN5_uc010aud.3_Missense_Mutation_p.P96L|FBLN5_uc001xzx.4_Missense_Mutation_p.P91L	NM_006329	NP_006320	Q9UBX5	FBLN5_HUMAN	Homo sapiens fibulin 5 (FBLN5), mRNA.	91	EGF-like 2; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCTGGGTACGGACCTgagta	0.532													A	92403398	G	A	92403398	3	1	226	1	0	0	0	0	1	0	0	0	5749	1116	39	1	1106	1	FBLN5	14	92403398	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	24377001	92403398	14946142	40	15524											
TMCO5A	145942	broad.mit.edu	37	chr15	38233922	38233922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgtgaagatcaagccctCtacataaaggtagagcttct	12	11	8	10	0	4	3	1	1	3	2	4	3	4	3	1	1	3	2	1	1	6	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:38233922C>T	uc001zjw.3	+	6	597	c.495C>T	c.(493-495)ctC>ctT	p.L165L	TMCO5A_uc001zjv.1_Silent_p.L165L|TMCO5A_uc010bbc.1_Silent_p.L165L	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	165						integral to membrane		p.L165P(1)		central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						ATCAAGCCCTCTACATAAAGG	0.363													T	38233922	C	T	38233922	2	4	226	1	0	0	0	0	0	0	0	1	16099	900	32	2		2	TMCO5A	15	38233922	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08		38233922	64297470	41	15525											
MAP1A	4130	broad.mit.edu	37	chr15	43816806	43816806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcaaagaagatgctgcTgaggagacagtcaagccagg	13	5	16	7	0	1	4	1	1	0	3	1	5	1	4	1	3	3	3	1	3	3	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:43816806T>C	uc001zrt.3	+	3	3602	c.3135T>C	c.(3133-3135)gcT>gcC	p.A1045A		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1045						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AAGATGCTGCTGAGGAGACAG	0.572													C	43816806	T	C	43816806	2	2	226	1	0	0	0	0	0	0	0	1	9302	1567	55	3		3	MAP1A	15	43816806	Silent	SNP	T	TCGA-32-1986-01A-01D-1494-08	5582884	43816806	58714586	42	15526											
SENP8	123228	broad.mit.edu	37	chr15	72432114	72432114	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgactgctctgatcaCgtcagtttcatcagccctga	8	14	7	12	1	6	3	5	3	1	0	6	3	6	3	1	0	2	2	1	0	0	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:72432114C>T	uc021spq.1	+	1	483	c.150C>T	c.(148-150)caC>caT	p.H50H	SENP8_uc021spr.1_Silent_p.H50H|SENP8_uc021sps.1_Silent_p.H50H|SENP8_uc021spt.1_Silent_p.H50H|SENP8_uc002atp.3_Silent_p.H50H|SENP8_uc021spu.1_Silent_p.H50H	NM_001166340	NP_660205	Q96LD8	SENP8_HUMAN	Homo sapiens SUMO/sentrin specific peptidase family member 8 (SENP8), transcript variant 1, mRNA.	50	Protease.				proteolysis		cysteine-type peptidase activity|protein binding	p.D49H(1)		breast(1)|kidney(2)|lung(1)|ovary(1)|skin(1)	6						GCTCTGATCACGTCAGTTTCA	0.478													T	72432114	C	T	72432114	2	4	226	1	0	0	0	0	0	0	0	1	14145	535	19	1		1	SENP8	15	72432114	Silent	SNP	C	TCGA-32-1986-01A-01D-1494-08	28615308	72432114	30099278	43	15527											
LRRK1	79705	broad.mit.edu	37	chr15	101528988	101528988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagttccctgtcatcgtgCgcttgcccctgtatgcggcc	4	12	11	14	3	1	1	1	1	0	0	3	1	2	1	4	1	3	3	4	1	1	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr15:101528988C>T	uc002bwr.3	+	4	902	c.583C>T	c.(583-585)Cgc>Tgc	p.R195C	LRRK1_uc010usb.2_Non-coding_Transcript|LRRK1_uc010usc.2_Non-coding_Transcript|LRRK1_uc002bwq.1_Missense_Mutation_p.R195C	NM_024652	NP_078928	Q38SD2	LRRK1_HUMAN	Homo sapiens leucine-rich repeat kinase 1 (LRRK1), mRNA.	195					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTCATCGTGCGCTTGCCCCT	0.607													T	101528988	C	T	101528988	3	4	226	1	0	0	0	0	1	0	0	0	9102	768	27	1	597	1	LRRK1	15	101528988	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	29096874	101528988	1002404	44	15528											
ZNF646	9726	broad.mit.edu	37	chr16	31091658	31091658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagacctactccaaccGcatggccctgaaggaccacc	11	4	7	19	1	0	2	0	1	0	1	1	3	1	3	8	2	2	1	8	2	4	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:31091658G>A	uc002eap.3	+	1	4302	c.4013G>A	c.(4012-4014)cGc>cAc	p.R1338H	ZNF646_uc021tgu.1_Missense_Mutation_p.R1338H	NM_014699	NP_055514	O15015	ZN646_HUMAN	Homo sapiens zinc finger protein 646 (ZNF646), mRNA.	1338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.N1337I(1)		NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						TACTCCAACCGCATGGCCCTG	0.697													A	31091658	G	A	31091658	3	1	226	1	0	0	0	0	1	0	0	0	18163	1087	38	1	4015	1	ZNF646	16	31091658	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		31091658	59263095	45	15529											
CDH13	1012	broad.mit.edu	37	chr16	83704446	83704446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttattgtcaatttgacaGttgaagataaggatgacccc	13	12	10	6	0	1	4	1	3	0	1	1	6	1	5	2	1	0	2	2	1	4	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr16:83704446G>A	uc010vns.2	+	9	1558	c.1294G>A	c.(1294-1296)Gtt>Att	p.V432I	CDH13_uc002fgx.3_Missense_Mutation_p.V385I|CDH13_uc010vnt.2_Missense_Mutation_p.V131I|CDH13_uc010vnu.2_Missense_Mutation_p.V346I	NM_001220488	NP_001207417	P55290	CAD13_HUMAN	Homo sapiens cadherin 13, H-cadherin (heart) (CDH13), transcript variant 2, mRNA.	385	Cadherin 3.				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)		CAATTTGACAGTTGAAGATAA	0.478													A	83704446	G	A	83704446	3	1	226	1	0	0	0	0	1	0	0	0	3129	1029	36	2	1187	2	CDH13	16	83704446	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	52612788	83704446	6650307	46	15530											
MYO15A	51168	broad.mit.edu	37	chr17	18025430	18025430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcccaaggggggtgaaCggcgccaggcagcccctggg	6	3	17	15	2	0	1	0	1	0	0	0	1	0	1	5	6	3	1	5	6	2	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:18025430C>T	uc021trm.1	+	0	3535	c.3316C>T	c.(3316-3318)Cgg>Tgg	p.R1106W	MYO15A_uc021trl.1_Missense_Mutation_p.R1106W	NM_016239	NP_057323	Q9UKN7	MYO15_HUMAN	Homo sapiens myosin XVA (MYO15A), mRNA.	1106	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity	p.R1106W(2)		breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGGGGGTGAACGGCGCCAGGC	0.672													T	18025430	C	T	18025430	3	4	226	1	0	0	0	0	1	0	0	0	10139	527	19	1	3318	1	MYO15A	17	18025430	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		18025430	63169780	47	15531											
TP53I13	90313	broad.mit.edu	37	chr17	27899640	27899640	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggccacgctctgcacaCggctgcacagaaacttccga	9	6	9	17	3	1	1	0	0	1	1	2	2	2	1	3	2	3	4	3	2	1	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:27899640C>G	uc002hee.3	+	5	1032	c.994C>G	c.(994-996)Cgg>Ggg	p.R332G		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	332						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		GCTCTGCACACGGCTGCACAG	0.682													G	27899640	C	G	27899640	3	3	226	1	0	0	0	0	1	0	0	0	16487	527	19	4	1016	4	TP53I13	17	27899640	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	9874210	27899640	53295570	48	15532											
NF1	4763	broad.mit.edu	37	chr17	29556164	29556164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcaacatgactggcttccTttgtgcccttgggggagtgt	6	13	13	9	0	1	1	1	1	0	0	2	3	2	2	2	3	2	1	2	3	1	3	rs137854566		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:29556164T>C	uc002hgg.3	+	20	2914	c.2531T>C	c.(2530-2532)cTt>cCt	p.L844P	NF1_uc002hgh.3_Missense_Mutation_p.L844P|NF1_uc010csn.2_Missense_Mutation_p.L704P|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	844			L -> F (in NF1).|L -> P (in NF1).|L -> R (in NF1; sporadic).		actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGGCTTCCTTTGTGCCCTT	0.517			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29556164	T	C	29556164	3	2	226	1	0	0	0	0	1	0	0	0	10432	1609	56	3	2674	3	NF1	17	29556164	Missense_Mutation	SNP	T	TCGA-32-1986-01A-01D-1494-08	1656524	29556164	51639046	49	15533											
SLFN11	91607	broad.mit.edu	37	chr17	33680901	33680901	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctatcagcagagcatcaCagatgactcctggcttctcc	9	10	9	13	0	3	3	2	1	1	2	5	3	4	3	2	1	3	4	2	1	1	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33680901C>G	uc002hjg.4	-	3	1623	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN11_uc010ctr.3_Missense_Mutation_p.C459S|SLFN11_uc010ctp.3_Missense_Mutation_p.C459S|SLFN11_uc010ctq.3_Missense_Mutation_p.C459S|SLFN11_uc002hjh.4_Missense_Mutation_p.C459S	NM_152270	NP_689483	Q7Z7L1	SLN11_HUMAN	Homo sapiens schlafen family member 11 (SLFN11), transcript variant 5, mRNA.	459						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CAGAGCATCACAGATGACTCC	0.488													G	33680901	C	G	33680901	3	3	226	1	0	0	0	0	1	0	0	0	14827	478	17	4	1337	4	SLFN11	17	33680901	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	4124737	33680901	47514309	50	15534											
SLFN13	146857	broad.mit.edu	37	chr17	33769128	33769128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctatcagcagagcatcaCagatgactcctggcttctcc	9	10	9	13	0	3	3	2	1	1	2	5	3	4	3	2	1	3	4	2	1	1	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:33769128C>G	uc002hjk.1	-	2	1706	c.1376G>C	c.(1375-1377)tGt>tCt	p.C459S	SLFN13_uc010wch.1_Missense_Mutation_p.C459S|SLFN13_uc002hjl.2_Missense_Mutation_p.C459S|SLFN13_uc002hjm.2_Missense_Mutation_p.C128S|SLFN13_uc010ctt.2_Missense_Mutation_p.C141S	NM_144682	NP_653283	Q68D06	SLN13_HUMAN	Homo sapiens schlafen family member 13 (SLFN13), mRNA.	459						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGAGCATCACAGATGACTCC	0.527													G	33769128	C	G	33769128	3	3	226	1	0	0	0	0	1	0	0	0	14830	478	17	4	1325	4	SLFN13	17	33769128	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	88227	33769128	47426082	51	15535											
KRT34	3885	broad.mit.edu	37	chr17	39535641	39535641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagctcgatctccagggcGttgactgtgcgtctcagctc	5	11	12	13	3	2	1	1	1	2	0	6	2	2	1	1	1	4	4	1	1	0	1	rs145615462		TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:39535641G>A	uc002hwm.3	-	4	978	c.966C>T	c.(964-966)aaC>aaT	p.N322N		NM_021013	NP_066293	O76011	KRT34_HUMAN	Homo sapiens keratin 34 (KRT34), mRNA.	322	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				TCTCCAGGGCGTTGACTGTGC	0.597													A	39535641	G	A	39535641	2	1	226	1	0	0	0	0	0	0	0	1	8529	1136	40	1		1	KRT34	17	39535641	Silent	SNP	G	TCGA-32-1986-01A-01D-1494-08	5766513	39535641	41659569	52	15536											
DDX5	1655	broad.mit.edu	37	chr17	62496298	62496298	+	Frame_Shift_Del	DEL	T	T	-																															actgtaaacaccattctgagTttttgccccaaaatctcttt																										TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:62496298delT	uc010deh.2	-	12	1631	c.1588delA	c.(1588-1590)actfs	p.T530fs	DDX5_uc002jek.2_Frame_Shift_Del_p.T530fs|DDX5_uc002jej.2_Frame_Shift_Del_p.T425fs|DDX5_uc010wqa.1_Frame_Shift_Del_p.T451fs	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	530					cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCATTCTGAGTTTTTGCCCCA	0.413			T	ETV4	prostate								-	62496298	T	-	62496298	7	5	226	1	0	1	0	1	0	0	0	0	4401	1725	60	0	260	0	DDX5	17	62496298	Frame_Shift_Del	DEL	T	TCGA-32-1986-01A-01D-1494-08	22960657	62496298	18698912	53	15537											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043872	77043872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccacttcaacatgttcaccgGcaagttctactgctacgtgc	9	11	7	14	2	3	0	2	0	1	0	3	0	3	0	2	1	5	4	2	1	4	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr17:77043872G>A	uc002jwt.3	+	2	924	c.842G>A	c.(841-843)gGc>gAc	p.G281D	C1QTNF1_uc002jwp.3_Missense_Mutation_p.G183D|C1QTNF1_uc002jwq.3_Missense_Mutation_p.G101D|C1QTNF1_uc002jwr.4_Missense_Mutation_p.G193D|C1QTNF1_uc002jws.3_Missense_Mutation_p.G183D	NM_198594	NP_940996	Q9BXJ1	C1QT1_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 1 (C1QTNF1), mRNA.	183	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			ATGTTCACCGGCAAGTTCTAC	0.547													A	77043872	G	A	77043872	3	1	226	1	0	0	0	0	1	0	0	0	1982	1203	42	2	558	2	C1QTNF1	17	77043872	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	14547574	77043872	4151338	54	15538											
NKG7	4818	broad.mit.edu	37	chr19	51875671	51875671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctgttggccagaggcccGagtgagctgagtgggtggga	6	7	19	9	1	0	3	0	2	0	1	0	5	0	4	3	4	1	2	3	4	0	1			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr19:51875671G>A	uc002pwj.3	-	0	290	c.119C>T	c.(118-120)tCg>tTg	p.S40L	NKG7_uc002pwk.3_Missense_Mutation_p.S40L	NM_005601	NP_005592	Q16617	NKG7_HUMAN	Homo sapiens natural killer cell group 7 sequence (NKG7), mRNA.	40						integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCAGAGGCCCGAGTGAGCTGA	0.607													A	51875671	G	A	51875671	3	1	226	1	0	0	0	0	1	0	0	0	10519	1059	37	1	394	1	NKG7	19	51875671	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08		51875671	7253312	55	15539											
ITCH	83737	broad.mit.edu	37	chr20	32981637	32981637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctgacagtggatcacAacttggttcaatgggtagcc	10	12	11	8	0	3	1	2	1	1	0	3	2	3	2	1	3	2	2	1	3	4	4			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:32981637A>G	uc010geu.1	+	2	212	c.20A>G	c.(19-21)cAa>cGa	p.Q7R	ITCH_uc002xak.2_Missense_Mutation_p.Q7R|ITCH_uc010zuj.1_5'UTR	NM_031483	NP_113671	Q96J02	ITCH_HUMAN	Homo sapiens itchy E3 ubiquitin protein ligase homolog (mouse) (ITCH), mRNA.	7	C2.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						AGTGGATCACAACTTGGTTCA	0.378													G	32981637	A	G	32981637	3	3	226	1	0	0	0	0	1	0	0	0	7926	130	5	3	22	3	ITCH	20	32981637	Missense_Mutation	SNP	A	TCGA-32-1986-01A-01D-1494-08		32981637	30043883	56	15540											
RPRD1B	58490	broad.mit.edu	37	chr20	36668949	36668949	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatctgtccttgtggatgcTttttctcatgttgccaggta	6	17	10	8	0	2	0	1	0	2	0	4	2	3	1	2	2	2	3	2	2	2	5			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:36668949T>C	uc002xho.4	+	1	666	c.264T>C	c.(262-264)gcT>gcC	p.A88A		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	88	CID.									endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTGGATGCTTTTTCTCATG	0.353													C	36668949	T	C	36668949	2	2	226	1	0	0	0	0	0	0	0	1	13707	1596	56	3		3	RPRD1B	20	36668949	Silent	SNP	T	TCGA-32-1986-01A-01D-1494-08	3687312	36668949	26356571	57	15541											
HNF4A	3172	broad.mit.edu	37	chr20	43057004	43057004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatgcaccccatgcccacCaccccctgcaccctcacctg	7	5	6	23	1	1	0	1	0	0	0	1	1	1	0	8	0	3	2	8	0	0	0			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:43057004C>T	uc002xma.3	+	8	1248	c.1159C>T	c.(1159-1161)Cac>Tac	p.H387Y	HNF4A_uc002xlu.3_Missense_Mutation_p.H365Y|HNF4A_uc002xlv.3_Missense_Mutation_p.H365Y|HNF4A_uc010ggq.3_Missense_Mutation_p.H380Y|HNF4A_uc002xlz.3_Missense_Mutation_p.H387Y	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	387					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CCATGCCCACCACCCCCTGCA	0.587													T	43057004	C	T	43057004	3	4	226	1	0	0	0	0	1	0	0	0	7308	594	21	2	1371	2	HNF4A	20	43057004	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08	6388055	43057004	19968516	58	15542											
KCNB1	3745	broad.mit.edu	37	chr20	48098546	48098546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgaactcctcgccttcccGctcccgtagggtctcggcct	4	10	9	18	5	1	0	0	0	1	0	7	1	4	0	5	2	1	2	5	2	2	2			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr20:48098546G>A	uc002xur.1	-	0	638	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	KCNB1_uc002xus.1_Missense_Mutation_p.R158W	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	158					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	p.R158L(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCGCCTTCCCGCTCCCGTAGG	0.582													A	48098546	G	A	48098546	3	1	226	1	0	0	0	0	1	0	0	0	8070	1086	38	1	2112	1	KCNB1	20	48098546	Missense_Mutation	SNP	G	TCGA-32-1986-01A-01D-1494-08	5041542	48098546	14926974	59	15543											
C22orf23	84645	broad.mit.edu	37	chr22	38341090	38341090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggggctggagccttctgtCgtgcaggaggggcctttctt	4	11	16	10	1	2	0	0	0	2	0	3	2	2	2	2	6	2	2	2	6	0	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chr22:38341090C>T	uc003auj.2	-	4	649	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	C22orf23_uc021wpl.1_Missense_Mutation_p.R126Q	NM_032561	NP_115950	Q9BZE7	EVG1_HUMAN	Homo sapiens chromosome 22 open reading frame 23 (C22orf23), transcript variant 1, mRNA.	147										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					AGCCTTCTGTCGTGCAGGAGG	0.562													T	38341090	C	T	38341090	3	4	226	1	0	0	0	0	1	0	0	0	2158	884	31	1	225	1	C22orf23	22	38341090	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		38341090	12963476	60	15544											
ACRC	93953	broad.mit.edu	37	chrX	70830624	70830624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtacccaaagtggcggCgctttgccaagatccagatt	9	10	12	10	2	0	2	0	0	0	2	1	2	1	2	3	3	2	2	3	3	3	3			TCGA-32-1986-01A-01D-1494-08	TCGA-32-1986-10A-01D-1494-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5afe3ffc-ba3a-49bb-9837-091b600cbb35	4b5d1529-bc8a-4cc1-a757-7ab4c079fca5	g.chrX:70830624C>T	uc004eae.2	+	10	2206	c.1705C>T	c.(1705-1707)Cgc>Tgc	p.R569C	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	569						nucleus		p.R568W(1)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					AAAGTGGCGGCGCTTTGCCAA	0.517													T	70830624	C	T	70830624	3	4	226	1	0	0	0	0	1	0	0	0	171	768	27	1	1743	1	ACRC	23	70830624	Missense_Mutation	SNP	C	TCGA-32-1986-01A-01D-1494-08		70830624	84439936	61	15545											
INPP5B	3633	broad.mit.edu	37	chr1	38345863	38345863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcggccacctgaatttTcagctatacaaaaggatggg	11	11	10	9	1	1	1	1	1	0	0	1	2	1	2	2	3	3	1	2	3	5	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:38345863T>C	uc001ccf.1	-	8	980	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	INPP5B_uc009vvk.1_Missense_Mutation_p.K420E|INPP5B_uc001ccg.1_Missense_Mutation_p.K479E|INPP5B_uc010oij.1_Non-coding_Transcript	NM_005540	NP_005531	P32019	I5P2_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 75kDa (INPP5B), nuclear gene encoding mitochondrial protein, mRNA.	559					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACCTGAATTTTCAGCTATACA	0.398													C	38345863	T	C	38345863	3	2	227	1	0	0	0	0	1	0	0	0	7813	1792	62	3	1346	3	INPP5B	1	38345863	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08		38345863	210904758	1	15546											
CGN	57530	broad.mit.edu	37	chr1	151491244	151491244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttggggtccaaatcaaGggggccaatgaccaaggggc	10	7	14	10	0	1	1	1	1	0	0	3	1	3	1	4	6	0	0	4	6	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:151491244G>T	uc009wmw.3	+	1	393	c.249G>T	c.(247-249)aaG>aaT	p.K83N		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	77	Head.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCAAATCAAGGGGGCCAATG	0.592													T	151491244	G	T	151491244	3	4	227	1	0	0	0	0	1	0	0	0	3333	991	35	4	251	4	CGN	1	151491244	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	113145381	151491244	97759377	2	15547											
HRNR	388697	broad.mit.edu	37	chr1	152187646	152187646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagcgggaagacgaaccTgagctagatccgtgtcgttc	10	8	12	11	4	0	3	0	1	0	2	3	5	1	4	3	1	3	2	3	1	4	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:152187646T>C	uc001ezt.1	-	2	6535	c.6459A>G	c.(6457-6459)tcA>tcG	p.S2153S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2153					keratinization		calcium ion binding|protein binding	p.S2152S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGACGAACCTGAGCTAGATC	0.607													C	152187646	T	C	152187646	2	2	227	1	0	0	0	0	0	0	0	1	7414	1567	55	3		3	HRNR	1	152187646	Silent	SNP	T	TCGA-32-1991-01A-01D-1353-08	696402	152187646	97062975	3	15548											
ABL2	27	broad.mit.edu	37	chr1	179077669	179077669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctggagaaggccagccCggctgctctccatcctctgg	5	9	13	14	1	2	1	0	0	2	1	4	2	3	1	4	5	2	3	4	5	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:179077669C>T	uc001gmj.4	-	11	3020	c.2733G>A	c.(2731-2733)ccG>ccA	p.P911P	ABL2_uc010pnf.2_Silent_p.P808P|ABL2_uc010png.2_Silent_p.P787P|ABL2_uc010pnh.2_Silent_p.P890P|ABL2_uc001gmg.4_Silent_p.P793P|ABL2_uc001gmi.4_Silent_p.P896P|ABL2_uc010pne.2_Silent_p.P772P	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	911	F-actin-binding (By similarity).|Pro-rich.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AAGGCCAGCCCGGCTGCTCTC	0.607			T	ETV6	AML								T	179077669	C	T	179077669	2	4	227	1	0	0	0	0	0	0	0	1	93	639	23	1		1	ABL2	1	179077669	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	26890023	179077669	70172952	4	15549											
CFH	3075	broad.mit.edu	37	chr1	196709801	196709801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtgttgtagctcacatGtcagacagttatcagtatgg	10	13	11	7	0	3	1	3	0	0	1	3	1	3	1	0	2	1	5	0	2	3	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:196709801G>T	uc001gtj.4	+	17	3075	c.2835G>T	c.(2833-2835)atG>atT	p.M945I	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	945	Sushi 16.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TAGCTCACATGTCAGACAGTT	0.353													T	196709801	G	T	196709801	3	4	227	1	0	0	0	0	1	0	0	0	3313	1377	48	4	2923	4	CFH	1	196709801	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	17632132	196709801	52540820	5	15550											
PTPRC	5788	broad.mit.edu	37	chr1	198703534	198703534	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttattgtcatggtcactCgatgtgaagaaggaaacagg	13	10	12	6	1	2	2	2	1	0	1	3	4	2	3	0	3	1	1	0	3	4	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:198703534C>A	uc001gur.1	+	21	2431	c.2251C>A	c.(2251-2253)Cga>Aga	p.R751R	PTPRC_uc001gut.1_Silent_p.R590R|PTPRC_uc021pgy.1_Silent_p.R705R|PTPRC_uc010ppg.1_Silent_p.R687R	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	751	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CATGGTCACTCGATGTGAAGA	0.423													A	198703534	C	A	198703534	2	1	227	1	0	0	0	0	0	0	0	1	12885	876	31	4		4	PTPRC	1	198703534	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	1993733	198703534	50547087	6	15551											
SOX13	9580	broad.mit.edu	37	chr1	204086257	204086259	+	In_Frame_Del	DEL	AGC	AGC	-																															ttccctctcccagattgcaaAgcagcagcagcagctgattc																										TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:204086257_204086259delAGC	uc001ham.3	+	5	1194_1196	c.599_601delAGC	c.(598-603)aagcag>aag	p.Q204del	SOX13_uc001hal.3_In_Frame_Del_p.Q204del|SOX13_uc010pqp.2_In_Frame_Del_p.Q204del|SOX13_uc010pqq.2_In_Frame_Del_p.Q71del	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	204	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGATTGCAAAGCAGCAGCAGCA	0.581													-	204086259	AGC	-	204086257	7	5	227	1	0	1	0	1	0	0	0	0	15038	72	3	0	617	0	SOX13	1	204086257	In_Frame_Del	DEL	AGC	TCGA-32-1991-01A-01D-1353-08	5382723	204086257	45164364	7	15552											
PIGR	5284	broad.mit.edu	37	chr1	207108974	207108974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccagcagggagaggCggccctcgtactgggcctta	6	7	14	14	2	0	1	0	0	0	1	3	2	2	1	4	4	2	3	4	4	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:207108974C>T	uc001hez.3	-	4	1419	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PIGR_uc009xbz.3_Missense_Mutation_p.R412H	NM_002644	NP_002635	P01833	PIGR_HUMAN	Homo sapiens polymeric immunoglobulin receptor (PIGR), mRNA.	412	Ig-like V-type 4.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CAGGGAGAGGCGGCCCTCGTA	0.637											OREG0014186	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	207108974	C	T	207108974	3	4	227	1	0	0	0	0	1	0	0	0	11974	768	27	1	1087	1	PIGR	1	207108974	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	3022717	207108974	42141647	8	15553											
OR2M5	127059	broad.mit.edu	37	chr1	248308541	248308541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcctcttctttctggTcctggccatcttttcagtgg	3	17	7	14	0	5	0	1	0	4	0	7	0	7	0	4	3	0	0	4	3	0	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr1:248308541T>C	uc010pze.2	+	0	92	c.92T>C	c.(91-93)gTc>gCc	p.V31A		NM_001004690	NP_001004690	A3KFT3	OR2M5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 5 (OR2M5), mRNA.	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L30L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCTTTCTGGTCCTGGCCATC	0.507													C	248308541	T	C	248308541	3	2	227	1	0	0	0	0	1	0	0	0	11089	1667	58	3	94	3	OR2M5	1	248308541	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	41199567	248308541	942080	9	15554											
KCNK3	3777	broad.mit.edu	37	chr2	26950700	26950700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaaggggctgggcatgcGgcgcgccgacgtgtccatgg	7	5	18	11	5	0	1	0	0	0	1	1	2	1	1	2	5	1	2	2	5	2	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:26950700G>A	uc002rhn.2	+	1	612	c.449G>A	c.(448-450)cGg>cAg	p.R150Q		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	150					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGGCATGCGGCGCGCCGAC	0.652													A	26950700	G	A	26950700	3	1	227	1	0	0	0	0	1	0	0	0	8125	1116	39	1	455	1	KCNK3	2	26950700	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		26950700	216248673	10	15555											
THADA	63892	broad.mit.edu	37	chr2	43458375	43458375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgggggacgccagccGgactttgagaggagacagaa	10	5	18	8	2	0	3	0	1	0	3	0	7	0	5	2	5	1	1	2	5	1	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:43458375G>A	uc002rsw.4	-	37	5926	c.5574C>T	c.(5572-5574)tcC>tcT	p.S1858S	THADA_uc010far.3_Silent_p.S1053S|THADA_uc002rsx.4_Silent_p.S1858S|THADA_uc002rsy.4_Non-coding_Transcript	NM_001083953	NP_071348	Q6YHU6	THADA_HUMAN	Homo sapiens thyroid adenoma associated (THADA), transcript variant 3, mRNA.	1858							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GACGCCAGCCGGACTTTGAGA	0.517													A	43458375	G	A	43458375	2	1	227	1	0	0	0	0	0	0	0	1	15940	1103	39	1		1	THADA	2	43458375	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	16507675	43458375	199740998	11	15556											
CNTNAP5	129684	broad.mit.edu	37	chr2	125555882	125555882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggacttcgtggttgttCtgctctgcaagaatggtgag	7	13	13	8	1	3	2	1	1	2	1	4	3	3	3	0	3	2	4	0	3	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:125555882C>A	uc010flu.3	+	18	3566	c.3202C>A	c.(3202-3204)Ctg>Atg	p.L1068M	CNTNAP5_uc002tno.3_Missense_Mutation_p.L1067M	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	1067	Laminin G-like 4.				cell adhesion|signal transduction	integral to membrane	receptor binding	p.L1067L(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CGTGGTTGTTCTGCTCTGCAA	0.498													A	125555882	C	A	125555882	3	1	227	1	0	0	0	0	1	0	0	0	3681	912	32	4	3273	4	CNTNAP5	2	125555882	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	82097507	125555882	117643491	12	15557											
UBR3	130507	broad.mit.edu	37	chr2	170850840	170850840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttaatgtagttttgggGcagtgccgtgacaatgttga	8	15	13	5	1	1	2	0	2	1	0	1	2	1	2	1	2	1	5	1	2	3	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:170850840G>A	uc010zdi.2	+	25	3792	c.3792G>A	c.(3790-3792)ggG>ggA	p.G1264G	UBR3_uc002ufr.4_Non-coding_Transcript|UBR3_uc010fqa.3_Silent_p.G85G|UBR3_uc002uft.4_Silent_p.G117G	NM_172070	NP_742067	Q6ZT12	UBR3_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 3 (putative) (UBR3), mRNA.	1264					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TAGTTTTGGGGCAGTGCCGTG	0.418													A	170850840	G	A	170850840	2	1	227	1	0	0	0	0	0	0	0	1	17005	1190	42	2		2	UBR3	2	170850840	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	45294958	170850840	72348533	13	15558											
FAM126B	285172	broad.mit.edu	37	chr2	201853144	201853144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttttcatggcattggcaaCctacaatgataatataagtc	13	14	7	7	0	1	1	1	1	0	0	2	1	1	1	1	2	2	3	1	2	6	7			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:201853144C>G	uc002uws.4	-	11	1020	c.832_splice	c.e11-1	p.V278_splice	FAM126B_uc002uwu.3_Splice_Site_p.V196_splice|FAM126B_uc002uwv.3_Splice_Site_p.V278_splice	NM_173822	NP_776183	Q8IXS8	F126B_HUMAN	Homo sapiens family with sequence similarity 126, member B (FAM126B), mRNA.	278						intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GCATTGGCAACCTACAATGAT	0.338													G	201853144	C	G	201853144	3	3	227	1	0	0	0	0	1	0	0	0	5475	521	18	4	768	4	FAM126B	2	201853144	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	31002304	201853144	41346229	14	15559											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841553	208841553	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgaactcctcgccacAttggcagctatcttcagagc	8	11	8	14	1	3	2	1	1	2	1	5	2	4	2	2	1	4	3	2	1	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr2:208841553A>G	uc002vcl.2	-	2	1858	c.1368T>C	c.(1366-1368)aaT>aaC	p.N456N	PLEKHM3_uc002vcm.2_Silent_p.N456N	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	456	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCCTCGCCACATTGGCAGCTA	0.522													G	208841553	A	G	208841553	2	3	227	1	0	0	0	0	0	0	0	1	12159	214	8	3		3	PLEKHM3	2	208841553	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	6988409	208841553	34357820	15	15560											
C3orf32	51066	broad.mit.edu	37	chr3	8661576	8661576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgatggtacagccacagCaataccgctcaggatagtcc	13	6	9	13	2	1	0	1	0	0	0	2	2	2	1	3	2	4	3	3	2	4	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:8661576C>A	uc011atg.2	-	11	1146	c.1106G>T	c.(1105-1107)tGc>tTc	p.C369F	C3orf32_uc003bqz.3_Missense_Mutation_p.C347F|C3orf32_uc003bqs.1_Non-coding_Transcript|C3orf32_uc003bqt.3_Missense_Mutation_p.C296F|C3orf32_uc003bqu.3_Missense_Mutation_p.C347F|C3orf32_uc003bqv.3_Missense_Mutation_p.C296F|C3orf32_uc003bqx.3_Non-coding_Transcript|C3orf32_uc003bqy.3_Missense_Mutation_p.C347F	NM_015931	NP_057015	Q9Y2M2	CC032_HUMAN	Homo sapiens chromosome 3 open reading frame 32 (C3orf32), mRNA.	347										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	14						ACAGCCACAGCAATACCGCTC	0.507													A	8661576	C	A	8661576	3	1	227	1	0	0	0	0	1	0	0	0	2243	710	25	4	25	4	C3orf32	3	8661576	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		8661576	189360854	16	15561											
CCBP2	1238	broad.mit.edu	37	chr3	42905968	42905968	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccgcagcactacaggaCgtcgggactgggcatttcct	7	7	11	16	3	0	0	0	0	0	0	2	2	1	2	4	3	2	3	4	3	1	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:42905968C>T	uc003cme.3	+	2					CCBP2_uc003cmf.3_5'UTR|CCBP2_uc003cmg.3_Intron|CCBP2_uc021wwm.1_5'Flank	NM_001296	NP_001287	O00590	CCBP2_HUMAN	Homo sapiens chemokine binding protein 2 (CCBP2), mRNA.						chemotaxis|immune response|multicellular organismal development	integral to plasma membrane	C-X-C chemokine receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(10)|skin(2)|urinary_tract(1)	26				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CACTACAGGACGTCGGGACTG	0.527													T	42905968	C	T	42905968	1	4	227	1	0	0	0	0	0	0	0	0	2760	551	19	1		1	CCBP2	3	42905968	Translation_Start_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	34244392	42905968	155116462	17	15562											
PCNP	57092	broad.mit.edu	37	chr3	101304326	101304326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctccaaaaactctttcaGtagcagcagcttttaatgaa	13	13	6	9	0	2	1	1	1	1	0	3	1	3	1	1	0	5	5	1	0	5	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:101304326G>A	uc003dva.3	+	2	343	c.325G>A	c.(325-327)Gta>Ata	p.V109I	PCNP_uc003dvb.3_Non-coding_Transcript|PCNP_uc003dvc.3_Non-coding_Transcript|PCNP_uc003dvd.3_Missense_Mutation_p.V109I	NM_020357	NP_065090	Q8WW12	PCNP_HUMAN	Homo sapiens PEST proteolytic signal containing nuclear protein (PCNP), mRNA.	109					cell cycle|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	nucleus	protein binding			large_intestine(1)|lung(1)	2						AACTCTTTCAGTAGCAGCAGC	0.299													A	101304326	G	A	101304326	3	1	227	1	0	0	0	0	1	0	0	0	11665	1029	36	2	335	2	PCNP	3	101304326	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	58398358	101304326	96718104	18	15563											
DNAJC19	131118	broad.mit.edu	37	chr3	180702463	180702463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttctagtaaatctttagCttcattgattttggctgcta	9	18	6	8	0	3	1	1	1	2	0	3	1	3	1	1	1	2	4	1	1	5	10			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr3:180702463C>T	uc003fkt.3	-	5	488	c.316G>A	c.(316-318)Gct>Act	p.A106T	DNAJC19_uc021xhv.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhw.1_Missense_Mutation_p.A81T|DNAJC19_uc021xhx.1_Non-coding_Transcript|DNAJC19_uc003fku.3_Non-coding_Transcript	NM_145261	NP_001177162	Q96DA6	TIM14_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 19 (DNAJC19), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	106	J.				genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			AAATCTTTAGCTTCATTGATT	0.284													T	180702463	C	T	180702463	3	4	227	1	0	0	0	0	1	0	0	0	4677	797	28	2	38	2	DNAJC19	3	180702463	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	79398137	180702463	17319967	19	15564											
DRD5	1816	broad.mit.edu	37	chr4	9784083	9784083	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctactgggccatctccAggcccttccgctacaagcgc	7	7	9	18	3	1	0	0	0	1	0	3	0	2	0	5	2	3	2	5	2	3	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:9784083A>T	uc003gmb.4	+	0	826	c.430A>T	c.(430-432)Agg>Tgg	p.R144W		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	144					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGCCATCTCCAGGCCCTTCCG	0.597													T	9784083	A	T	9784083	3	4	227	1	0	0	0	0	1	0	0	0	4799	179	7	5	432	5	DRD5	4	9784083	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08		9784083	181370193	20	15565											
SEPSECS	51091	broad.mit.edu	37	chr4	25127315	25127315	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctatcttaaacatacttaCctggctccagaaacctgtct	12	13	4	12	0	3	1	0	0	3	1	4	1	4	1	3	1	4	1	3	1	6	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:25127315C>T	uc003grg.3	-	10	1424	c.1211_splice	c.e10+1	p.R404_splice	SEPSECS_uc003gri.3_Splice_Site_p.R403_splice|SEPSECS_uc003grh.3_Splice_Site_p.R325_splice	NM_016955	NP_058651	Q9HD40	SPCS_HUMAN	Homo sapiens Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase (SEPSECS), mRNA.	404					selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)			Pyridoxal Phosphate(DB00114)	AACATACTTACCTGGCTCCAG	0.388													T	25127315	C	T	25127315	5	4	227	1	0	0	0	0	0	0	1	0	14151	521	18	2	301	2	SEPSECS	4	25127315	Splice_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	15343232	25127315	166026961	21	15566											
CCKAR	886	broad.mit.edu	37	chr4	26491828	26491828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcgtctcattttcgagcCcgagttcacagggaggagtg	10	9	13	9	3	2	0	2	0	1	0	4	4	2	2	1	2	2	1	1	2	1	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr4:26491828C>A	uc003gse.1	-	0	215	c.62G>T	c.(61-63)gGg>gTg	p.G21V		NM_000730	NP_000721	P32238	CCKAR_HUMAN	Homo sapiens cholecystokinin A receptor (CCKAR), mRNA.	21					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.L20L(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	ATTTTCGAGCCCGAGTTCACA	0.493													A	26491828	C	A	26491828	3	1	227	1	0	0	0	0	1	0	0	0	2908	623	22	4	1244	4	CCKAR	4	26491828	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	1364513	26491828	164662448	22	15567											
SRD5A1	6715	broad.mit.edu	37	chr5	6662995	6662995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catggagtggtgtggctatgCcctggccagctggtctgtcc	4	11	15	11	0	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:6662995C>T	uc003jdw.3	+	3	819	c.629C>T	c.(628-630)gCc>gTc	p.A210V	SRD5A1_uc011cml.2_Non-coding_Transcript|SRD5A1_uc011cmm.2_Missense_Mutation_p.A163V	NM_001047	NP_001038	P18405	S5A1_HUMAN	Homo sapiens steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1) (SRD5A1), mRNA.	210					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TGTGGCTATGCCCTGGCCAGC	0.423													T	6662995	C	T	6662995	3	4	227	1	0	0	0	0	1	0	0	0	15234	739	26	2	643	2	SRD5A1	5	6662995	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		6662995	174252265	23	15568											
ZNF622	90441	broad.mit.edu	37	chr5	16453250	16453250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatctcatcaaggagcgaTgacccactctggcacctgtt	10	10	9	12	1	3	1	2	1	2	0	4	3	3	2	2	2	1	3	2	2	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:16453250T>A	uc003jfq.3	-	4	1298	c.1178A>T	c.(1177-1179)cAt>cTt	p.H393L		NM_033414	NP_219482	Q969S3	ZN622_HUMAN	Homo sapiens zinc finger protein 622 (ZNF622), mRNA.	393						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CAAGGAGCGATGACCCACTCT	0.463													A	16453250	T	A	16453250	3	1	227	1	0	0	0	0	1	0	0	0	18147	1464	51	5	263	5	ZNF622	5	16453250	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	9790255	16453250	164462010	24	15569											
NPR3	4883	broad.mit.edu	37	chr5	32739137	32739137	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaatatggaggattacGtaagtgcctgattatgagcc	11	11	12	7	1	1	2	1	2	0	0	1	4	1	4	2	3	3	2	2	3	5	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:32739137G>A	uc003jhv.3	+	3	1504	c.1059_splice	c.e3+1	p.Y353_splice	NPR3_uc010iuo.3_Splice_Site_p.Y137_splice|NPR3_uc003jhw.2_Splice_Site_p.Y137_splice|NPR3_uc003jhu.3_Splice_Site_p.Y353_splice	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	353					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.?(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GGAGGATTACGTAAGTGCCTG	0.408													A	32739137	G	A	32739137	5	1	227	1	0	0	0	0	0	0	1	0	10672	1159	40	1	1070	1	NPR3	5	32739137	Splice_Site	SNP	G	TCGA-32-1991-01A-01D-1353-08	16285887	32739137	148176123	25	15570											
PIK3R1	5295	broad.mit.edu	37	chr5	67591096	67591098	+	In_Frame_Del	DEL	GAA	GAA	-																															cgagaaattgacaaacgtatGaacagcattaaaccagacct																										TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:67591096_67591098delGAA	uc003jva.3	+	12	2269_2271	c.1689_1691delGAA	c.(1687-1692)atgaac>atc	p.563_564MN>I	PIK3R1_uc003jvc.3_In_Frame_Del_p.263_264MN>I|PIK3R1_uc003jvd.3_In_Frame_Del_p.293_294MN>I|PIK3R1_uc003jve.3_In_Frame_Del_p.242_243MN>I|PIK3R1_uc021xzn.1_In_Frame_Del_p.200_201MN>I|PIK3R1_uc011crb.2_In_Frame_Del_p.233_234MN>I	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	563					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(8)|p.D560_S565del(2)|p.N564K(2)|p.R562_M563ins13(1)|p.0?(1)|p.?(1)|p.N564fs*?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACAAACGTATGAACAGCATTAAA	0.374			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591098	GAA	-	67591096	7	5	227	1	0	1	0	1	0	0	0	0	11995	1290	45	0	1865	0	PIK3R1	5	67591096	In_Frame_Del	DEL	GAA	TCGA-32-1991-01A-01D-1353-08	34851959	67591096	113324164	26	15571											
SH3RF2	153769	broad.mit.edu	37	chr5	145393623	145393623	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccagctgtgtgggacAggtagggaagaaacgcctgg	9	8	15	9	1	0	1	0	0	0	1	2	3	2	3	3	4	2	2	3	4	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:145393623A>T	uc003lnt.3	+	5	1297	c.1059_splice	c.e5+1	p.Q353_splice	SH3RF2_uc011dbl.1_Splice_Site_p.Q353_splice	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	353							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGTGGGACAGGTAGGGAAG	0.512													T	145393623	A	T	145393623	3	4	227	1	0	0	0	0	1	0	0	0	14353	202	7	5	1072	5	SH3RF2	5	145393623	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	77802527	145393623	35521637	27	15572											
DCTN4	51164	broad.mit.edu	37	chr5	150133220	150133220	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaacaattggcacatCtgtgacatgacaaacacaac	18	7	6	10	0	2	2	1	2	1	0	2	2	2	2	0	1	3	1	0	1	5	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr5:150133220C>A	uc010jhi.3	-	3	309	c.207_splice	c.e3-1	p.R69_splice	DCTN4_uc003lsu.3_Splice_Site_p.R12_splice|DCTN4_uc003lsv.3_Splice_Site_p.R69_splice|DCTN4_uc010jhj.2_Splice_Site|DCTN4_uc011dck.1_Splice_Site_p.R12_splice	NM_001135643	NP_001129115	Q9UJW0	DCTN4_HUMAN	Homo sapiens dynactin 4 (p62) (DCTN4), transcript variant 1, mRNA.	69						centrosome|nucleus	protein N-terminus binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	10		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTGGCACATCTGTGACATGA	0.438													A	150133220	C	A	150133220	5	1	227	1	0	0	0	0	0	0	1	0	4343	927	32	4	1245	4	DCTN4	5	150133220	Splice_Site	SNP	C	TCGA-32-1991-01A-01D-1353-08	4739597	150133220	30782040	28	15573											
ZFAND3	60685	broad.mit.edu	37	chr6	38084429	38084429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acggtccgaggaaaccagtcGatctaaacagaagagtcgac	15	5	11	10	4	1	2	0	0	1	2	4	6	2	3	2	2	2	0	2	2	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:38084429G>C	uc003onx.3	+	4	858	c.443G>C	c.(442-444)cGa>cCa	p.R148P		NM_021943	NP_068762	Q9H8U3	ZFAN3_HUMAN	Homo sapiens zinc finger, AN1-type domain 3 (ZFAND3), mRNA.	148							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						GAAACCAGTCGATCTAAACAG	0.507													C	38084429	G	C	38084429	3	2	227	1	0	0	0	0	1	0	0	0	17730	1058	37	4	461	4	ZFAND3	6	38084429	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		38084429	133030638	29	15574											
CAPN11	11131	broad.mit.edu	37	chr6	44147870	44147870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgacttcctgcttcGggtcttcaccgagaagcaca	9	10	10	12	2	2	3	1	1	1	2	4	4	3	3	2	1	3	3	2	1	1	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:44147870G>A	uc003owt.1	+	13	1648	c.1610G>A	c.(1609-1611)cGg>cAg	p.R537Q	CAPN11_uc011dvn.2_Missense_Mutation_p.R191Q	NM_007058	NP_008989	Q9UMQ6	CAN11_HUMAN	Homo sapiens calpain 11 (CAPN11), mRNA.	537	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCTGCTTCGGGTCTTCACC	0.577													A	44147870	G	A	44147870	3	1	227	1	0	0	0	0	1	0	0	0	2650	1116	39	1	1664	1	CAPN11	6	44147870	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	6063441	44147870	126967197	30	15575											
BCLAF1	9774	broad.mit.edu	37	chr6	136599814	136599814	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgtacccataaggtcGtctcattcctctattatttc	7	17	4	13	1	3	0	1	0	3	0	8	0	5	0	3	1	1	1	3	1	4	6			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr6:136599814G>A	uc003qgx.1	-	3	458	c.205C>T	c.(205-207)Cga>Tga	p.R69*	BCLAF1_uc003qgy.1_Nonsense_Mutation_p.R67*|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Nonsense_Mutation_p.R67*|BCLAF1_uc003qgw.1_Nonsense_Mutation_p.R69*	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	69					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		CCATAAGGTCGTCTCATTCCT	0.433													A	136599814	G	A	136599814	4	1	227	1	0	0	0	0	0	1	0	0	1388	1153	40	1	2597	1	BCLAF1	6	136599814	Nonsense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	92451944	136599814	34515253	31	15576											
EGFR	1956	broad.mit.edu	37	chr7	55221821	55221821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcaaatacagctttggtGccacctgcgtgaagaagtgt	11	9	13	8	1	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	4	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:55221821G>A	uc003tqk.3	+	6	1111	c.865G>A	c.(865-867)Gcc>Acc	p.A289T	EGFR_uc003tqh.3_Missense_Mutation_p.A289T|EGFR_uc003tqi.3_Missense_Mutation_p.A289T|EGFR_uc003tqj.3_Missense_Mutation_p.A289T|EGFR_uc022adm.1_Missense_Mutation_p.A289T|EGFR_uc010kzg.2_Missense_Mutation_p.A244T|EGFR_uc022adn.1_Missense_Mutation_p.A244T|EGFR_uc011kco.2_Missense_Mutation_p.A236T|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289T(6)|p.V30_R297>G(5)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGCTTTGGTGCCACCTGCGT	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55221821	G	A	55221821	3	1	227	1	0	0	0	0	1	0	0	0	5006	1319	46	2	891	2	EGFR	7	55221821	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		55221821	103916842	32	15577											
RNF133	168433	broad.mit.edu	37	chr7	122338474	122338474	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgagaactcccttcttaaTtaaatggaaaatttccgtgc	14	13	6	8	1	1	1	0	1	1	1	3	3	3	2	2	1	2	0	2	1	7	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:122338474T>G	uc003vkj.1	-	0	735	c.499A>C	c.(499-501)Att>Ctt	p.I167L	CADPS2_uc022akp.1_Intron|CADPS2_uc022akq.1_Intron|CADPS2_uc010lkq.3_Intron|CADPS2_uc022akr.1_Intron	NM_139175	NP_631914	Q8WVZ7	RN133_HUMAN	Homo sapiens ring finger protein 133 (RNF133), mRNA.	167	PA.					endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						CCCTTCTTAATTAAATGGAAA	0.423													G	122338474	T	G	122338474	3	3	227	1	0	0	0	0	1	0	0	0	13530	1493	52	5	635	5	RNF133	7	122338474	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	67116653	122338474	36800189	33	15578											
SMARCD3	6604	broad.mit.edu	37	chr7	150945617	150945617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcttttcgtggctttgCgcgcccctccggcaacttcg	2	14	11	14	5	0	0	0	0	0	0	3	0	1	0	3	2	3	4	3	2	1	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr7:150945617C>T	uc003wjs.3	-	0	133	c.32G>A	c.(31-33)cGc>cAc	p.R11H	SMARCD3_uc003wjt.3_Intron|SMARCD3_uc003wju.3_Intron|SMARCD3_uc011kvh.1_Missense_Mutation_p.R11H|SMARCD3_uc010lqa.1_Missense_Mutation_p.R11H	NM_001003801	NP_001003801	Q6STE5	SMRD3_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3 (SMARCD3), transcript variant 3, mRNA.	11					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGTGGCTTTGCGCGCCCCTCC	0.582													T	150945617	C	T	150945617	3	4	227	1	0	0	0	0	1	0	0	0	14873	768	27	1	1471	1	SMARCD3	7	150945617	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	28607143	150945617	8193046	34	15579											
DEFA4	1669	broad.mit.edu	37	chr8	6794410	6794410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatagcagcgaggagggcGataatcctcatggctggggt	11	7	16	7	2	1	1	1	0	0	1	2	4	2	2	1	5	2	2	1	5	3	2	rs61749084	byFrequency	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:6794410G>A	uc003wqu.1	-	1	63	c.12C>T	c.(10-12)atC>atT	p.I4I		NM_001925	NP_001916	P12838	DEF4_HUMAN	Homo sapiens defensin, alpha 4, corticostatin (DEFA4), mRNA.	4					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space		p.I4I(2)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CGAGGAGGGCGATAATCCTCA	0.622													A	6794410	G	A	6794410	2	1	227	1	0	0	0	0	0	0	0	1	4425	1048	37	1		1	DEFA4	8	6794410	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		6794410	139569612	35	15580											
NKX3-1	4824	broad.mit.edu	37	chr8	23538761	23538761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctgggctccagctgccCacgcagtacaggtatgggta	10	7	13	11	1	0	0	0	0	0	0	1	0	1	0	2	3	4	7	2	3	4	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:23538761C>T	uc011kzx.2	-	1	726	c.678G>A	c.(676-678)gtG>gtA	p.V226V	NKX3-1_uc003xdv.1_Intron	NM_006167	NP_006158	Q99801	NKX31_HUMAN	Homo sapiens NK3 homeobox 1 (NKX3-1), transcript variant 1, mRNA.	226					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		TCCAGCTGCCCACGCAGTACA	0.542													T	23538761	C	T	23538761	2	4	227	1	0	0	0	0	0	0	0	1	10531	581	21	2		2	NKX3-1	8	23538761	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	16744351	23538761	122825261	36	15581											
PREX2	80243	broad.mit.edu	37	chr8	68989642	68989642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttaacagggagattgccGcaccagagaagaggcaatga	14	6	14	7	1	0	4	0	1	0	3	0	6	0	4	2	3	2	3	2	3	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:68989642G>A	uc003xxv.1	+	14	1607	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	PREX2_uc003xxu.1_Missense_Mutation_p.R527H|PREX2_uc011lez.1_Missense_Mutation_p.R462H	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2 (PREX2), transcript variant 1, mRNA.	527	DEP 2.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGAGATTGCCGCACCAGAGAA	0.438													A	68989642	G	A	68989642	3	1	227	1	0	0	0	0	1	0	0	0	12563	1087	38	1	1638	1	PREX2	8	68989642	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	45450881	68989642	77374380	37	15582											
WDYHV1	55093	broad.mit.edu	37	chr8	124442261	124442261	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgagacctggagatggAcctgtgatctgggtaagaca	11	7	15	8	1	1	4	0	1	1	3	1	7	1	5	2	4	0	1	2	4	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:124442261A>G	uc003yqn.1	+	2	347	c.222A>G	c.(220-222)ggA>ggG	p.G74G	WDYHV1_uc011lij.1_Silent_p.G14G	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	74					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						CTGGAGATGGACCTGTGATCT	0.378													G	124442261	A	G	124442261	2	3	227	1	0	0	0	0	0	0	0	1	17445	262	10	3		3	WDYHV1	8	124442261	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	55452619	124442261	21921761	38	15583											
LRRC24	441381	broad.mit.edu	37	chr8	145748578	145748578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggcaacccgcaggtcctCacccaggttggctgtgagct	7	7	13	14	1	1	1	1	1	0	0	2	1	2	1	3	4	2	6	3	4	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr8:145748578C>G	uc003zdm.3	-	4	955	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	275	Ig-like C2-type.					integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGCAGGTCCTCACCCAGGTTG	0.682													G	145748578	C	G	145748578	3	3	227	1	0	0	0	0	1	0	0	0	9049	835	29	4	722	4	LRRC24	8	145748578	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	21306317	145748578	615444	39	15584											
KIAA1045	23349	broad.mit.edu	37	chr9	34971449	34971449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcactgtagagggctccGtccaggaggtacaggaggag	9	6	18	8	1	0	1	0	0	0	1	2	4	2	4	2	6	1	4	2	6	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:34971449G>A	uc003zvq.3	+	1	332	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	KIAA1045_uc003zvr.3_Missense_Mutation_p.V52I	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	52							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGAGGGCTCCGTCCAGGAGGT	0.647													A	34971449	G	A	34971449	3	1	227	1	0	0	0	0	1	0	0	0	8265	1145	40	1	156	1	KIAA1045	9	34971449	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		34971449	106241982	40	15585											
C9orf64	84267	broad.mit.edu	37	chr9	86554575	86554575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttcaataagctccagaaGacaatcccggatcagctcaa	14	9	7	11	1	3	2	3	0	0	2	5	3	5	3	2	1	2	3	2	1	5	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:86554575G>A	uc004anb.3	-	3	1125	c.877C>T	c.(877-879)Ctt>Ttt	p.L293F	C9orf64_uc004anc.3_Missense_Mutation_p.L152F	NM_032307	NP_115683	Q5T6V5	CI064_HUMAN	Homo sapiens chromosome 9 open reading frame 64 (C9orf64), mRNA.	293										central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGCTCCAGAAGACAATCCCGG	0.458													A	86554575	G	A	86554575	3	1	227	1	0	0	0	0	1	0	0	0	2515	942	33	2	152	2	C9orf64	9	86554575	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	51583126	86554575	54658856	41	15586											
GADD45G	10912	broad.mit.edu	37	chr9	92220750	92220750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctatcgtgggcgccggCgaggaggcgggtgcgccggg	3	4	23	11	8	0	0	0	0	0	0	1	2	0	1	2	7	1	1	2	7	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr9:92220750C>T	uc004aqq.3	+	2	434	c.324C>T	c.(322-324)ggC>ggT	p.G108G		NM_006705	NP_006696	O95257	GA45G_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, gamma (GADD45G), mRNA.	108					activation of MAPKKK activity|apoptosis|cell differentiation|DNA repair|multicellular organismal development		protein binding			lung(2)	2						TGGGCGCCGGCGAGGAGGCGG	0.662													T	92220750	C	T	92220750	2	4	227	1	0	0	0	0	0	0	0	1	6235	755	27	1		1	GADD45G	9	92220750	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08	5666175	92220750	48992681	42	15587											
DNAJC9	23234	broad.mit.edu	37	chr10	75006771	75006771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcgggaccctgcatacctgGaagcggcgggtggcgtcctc	5	6	17	13	4	0	0	0	0	0	0	2	2	1	2	3	6	3	1	3	6	2	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:75006771G>C	uc001jtr.3	-	0	492	c.177C>G	c.(175-177)ttC>ttG	p.F59L	DNAJC9_uc010qkg.2_Missense_Mutation_p.F59L|DNAJC9_uc010qkh.1_Non-coding_Transcript|DNAJC9-AS1_uc021ptm.1_5'Flank	NM_015190	NP_056005	Q8WXX5	DNJC9_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 9 (DNAJC9), mRNA.	59	J.				protein folding		heat shock protein binding|unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|stomach(1)	6	Prostate(51;0.0119)					TGCATACCTGGAAGCGGCGGG	0.736													C	75006771	G	C	75006771	3	2	227	1	0	0	0	0	1	0	0	0	4695	1165	41	4	625	4	DNAJC9	10	75006771	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		75006771	60527976	43	15588											
PTEN	5728	broad.mit.edu	37	chr10	89717636	89717636	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttgtggtctgccagctaAaggtgaagatatattcctcc	10	13	10	8	0	1	2	0	1	1	1	3	2	3	2	3	2	2	2	3	2	5	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr10:89717636A>T	uc001kfb.3	+	6	1693	c.661A>T	c.(661-663)Aag>Tag	p.K221*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	221	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K221*(2)|p.K221fs*2(1)|p.G165_*404del(1)|p.Q214fs*1(1)|p.?(1)|p.G165_K342del(1)|p.Q214fs*22(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTGCCAGCTAAAGGTGAAGAT	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717636	A	T	89717636	4	4	227	1	0	0	0	0	0	1	0	0	12823	15	1	5	687	5	PTEN	10	89717636	Nonsense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	14710865	89717636	45817111	44	15589											
SLC22A11	55867	broad.mit.edu	37	chr11	64337166	64337166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catacagtgggccggctgggGgctatgatgggtcccctgat	6	9	16	10	1	0	2	0	2	0	0	1	2	1	2	3	5	1	2	3	5	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:64337166G>A	uc001oai.3	+	8	1799	c.1425G>A	c.(1423-1425)ggG>ggA	p.G475G	SLC22A11_uc009ypq.3_Silent_p.G367G	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	475					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	GCCGGCTGGGGGCTATGATGG	0.612													A	64337166	G	A	64337166	2	1	227	1	0	0	0	0	0	0	0	1	14536	1219	43	2		2	SLC22A11	11	64337166	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		64337166	70669350	45	15590											
PHLDB1	23187	broad.mit.edu	37	chr11	118521224	118521224	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgctggtttgtcttcgaccgGctcaagcgcaccctttccta	5	12	9	15	4	2	0	1	0	1	0	4	1	3	0	3	2	1	4	3	2	2	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:118521224G>A	uc001ptr.2	+	20	4199	c.3846G>A	c.(3844-3846)cgG>cgA	p.R1282R	PHLDB1_uc001pts.3_Silent_p.R1282R|PHLDB1_uc001ptt.3_Silent_p.R1235R|PHLDB1_uc001ptu.2_Non-coding_Transcript|PHLDB1_uc001ptv.2_Silent_p.R1097R|PHLDB1_uc001ptw.2_Silent_p.R637R|PHLDB1_uc009zai.2_Silent_p.R318R|PHLDB1_uc001ptx.2_Silent_p.R318R	NM_015157	NP_055972	Q86UU1	PHLB1_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 1 (PHLDB1), transcript variant 1, mRNA.	1282	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTTCGACCGGCTCAAGCGCA	0.572													A	118521224	G	A	118521224	2	1	227	1	0	0	0	0	0	0	0	1	11928	1190	42	2		2	PHLDB1	11	118521224	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	54184058	118521224	16485292	46	15591											
VPS26B	112936	broad.mit.edu	37	chr11	134104939	134104939	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacacagggcagaatgtGaagctacggtaagtgatgtc	12	9	12	8	1	0	3	0	2	0	1	2	3	1	3	1	2	3	3	1	2	5	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr11:134104939G>T	uc001qhe.3	+	1	828	c.372G>T	c.(370-372)gtG>gtT	p.V124V		NM_052875	NP_443107	Q4G0F5	VP26B_HUMAN	Homo sapiens vacuolar protein sorting 26 homolog B (S. pombe) (VPS26B), mRNA.	124					protein transport|vacuolar transport	cytosol|retromer complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)	14	all_hematologic(175;0.127)	all_cancers(12;1.1e-21)|all_epithelial(12;3.77e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;2.43e-10)|all cancers(11;2.94e-09)|BRCA - Breast invasive adenocarcinoma(10;9.57e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00164)|Lung(977;0.216)		GGCAGAATGTGAAGCTACGGT	0.562													T	134104939	G	T	134104939	2	4	227	1	0	0	0	0	0	0	0	1	17300	1277	45	4		4	VPS26B	11	134104939	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	15583715	134104939	901577	47	15592											
NANOG	79923	broad.mit.edu	37	chr12	7945568	7945568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcttccttcctccatGgatctgcttattcaggacag	6	15	6	14	0	4	0	1	0	3	0	8	2	7	2	4	2	1	1	4	2	1	4			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:7945568G>A	uc009zfy.1	+	1	390	c.174G>A	c.(172-174)atG>atA	p.M58I		NM_024865	NP_079141	Q9H9S0	NANOG_HUMAN	Homo sapiens Nanog homeobox (NANOG), mRNA.	58					cell proliferation|embryo development|somatic stem cell maintenance	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14				Kidney(36;0.0872)		CTTCCTCCATGGATCTGCTTA	0.388													A	7945568	G	A	7945568	3	1	227	1	0	0	0	0	1	0	0	0	10226	1348	47	2	180	2	NANOG	12	7945568	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		7945568	125906327	48	15593											
KLRK1	22914	broad.mit.edu	37	chr12	10539553	10539553	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctttgcttttgccatcGtgttgaaaaatcactcttct	9	17	5	10	1	4	1	1	1	3	0	5	1	4	1	1	0	2	2	1	0	2	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:10539553G>A	uc009zhj.3	-	2	274	c.97C>T	c.(97-99)Cga>Tga	p.R33*	AK096314_uc001qya.1_Intron|KLRK1_uc001qyb.3_Non-coding_Transcript|KLRK1_uc001qyc.3_Nonsense_Mutation_p.R33*|KLRK1_uc009zhk.3_Nonsense_Mutation_p.R33*|KLRK1_uc001qyd.3_Nonsense_Mutation_p.R33*	NM_007360	NP_001186734	P26718	NKG2D_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily K, member 1 (KLRK1), mRNA.	33					natural killer cell activation|T cell costimulation	integral to plasma membrane	sugar binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)	9						TTTTGCCATCGTGTTGAAAAA	0.343													A	10539553	G	A	10539553	4	1	227	1	0	0	0	0	0	1	0	0	8481	1153	40	1	577	1	KLRK1	12	10539553	Nonsense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	2593985	10539553	123312342	49	15594											
GRIN2B	2904	broad.mit.edu	37	chr12	13906747	13906747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggaaataggtggtgaCgatagaaaagatgtaccagt	15	7	14	5	1	0	3	0	1	0	2	0	5	0	4	2	3	1	1	2	3	6	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:13906747C>T	uc001rbt.2	-	2	693	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	172					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TAGGTGGTGACGATAGAAAAG	0.463													T	13906747	C	T	13906747	3	4	227	1	0	0	0	0	1	0	0	0	6835	536	19	1	3984	1	GRIN2B	12	13906747	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	3367194	13906747	119945148	50	15595											
ESPL1	9700	broad.mit.edu	37	chr12	53662559	53662559	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccggtgtcatgaggagCttcaaaagagtcaactttgg	10	11	11	9	1	4	2	3	1	1	1	5	3	4	3	1	3	2	1	1	3	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr12:53662559C>A	uc001sck.2	+	1	100	c.9C>A	c.(7-9)agC>agA	p.S3R	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	3					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCATGAGGAGCTTCAAAAGAG	0.527													A	53662559	C	A	53662559	3	1	227	1	0	0	0	0	1	0	0	0	5294	796	28	4	11	4	ESPL1	12	53662559	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	39755812	53662559	80189336	51	15596											
KIAA0564	23078	broad.mit.edu	37	chr13	42142433	42142433	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaccagctggtaaagttCtctgaagcctgccaggatgg	10	8	12	11	1	1	1	0	1	1	0	2	3	1	2	4	3	3	3	4	3	3	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr13:42142433C>A	uc001uyj.3	-	44	5688	c.5618G>T	c.(5617-5619)aGa>aTa	p.R1873I		NM_015058	NP_055873	A3KMH1	K0564_HUMAN	Homo sapiens KIAA0564 (KIAA0564), transcript variant 1, mRNA.	1873	VWFA.					extracellular region	ATP binding|ATPase activity			endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(19)|lung(15)|ovary(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75		Lung NSC(96;4.61e-06)|Prostate(109;0.0167)|Lung SC(185;0.0262)|Breast(139;0.0854)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000368)|GBM - Glioblastoma multiforme(144;0.0033)|BRCA - Breast invasive adenocarcinoma(63;0.0969)		TGGTAAAGTTCTCTGAAGCCT	0.502													A	42142433	C	A	42142433	3	1	227	1	0	0	0	0	1	0	0	0	8243	913	32	4	103	4	KIAA0564	13	42142433	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		42142433	73027445	52	15597											
C14orf49	161176	broad.mit.edu	37	chr14	95932331	95932331	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggcatcttcgtccacGctggggtccccgatcctgtt	3	13	11	14	3	2	0	0	0	2	0	6	1	5	0	4	3	0	3	4	3	0	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr14:95932331G>A	uc001yei.4	-	2	579	c.564C>T	c.(562-564)agC>agT	p.S188S	C14orf49_uc010avi.3_Silent_p.S188S|C14orf49_uc001yej.1_Silent_p.S188S	NM_152592	NP_689805	Q6ZMZ3	SYNE3_HUMAN	Homo sapiens chromosome 14 open reading frame 49 (C14orf49), mRNA.	188					cytoskeletal anchoring at nuclear membrane	integral to membrane|nuclear outer membrane|SUN-KASH complex	actin binding	p.P187P(1)		breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(27)|prostate(5)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	50		all_cancers(154;0.0937)		COAD - Colon adenocarcinoma(157;0.245)		CTTCGTCCACGCTGGGGTCCC	0.627													A	95932331	G	A	95932331	2	1	227	1	0	0	0	0	0	0	0	1	1789	1078	38	1		1	C14orf49	14	95932331	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08		95932331	11417209	53	15598											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30664456	30664456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgaggccatagtagagcgtCctgcggcgcatggtcactgt	7	10	14	10	3	1	2	1	1	0	1	2	2	2	2	2	3	2	2	2	3	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:30664456C>T	uc001zdt.1	-	6	983	c.417G>A	c.(415-417)agG>agA	p.R139R	DKFZP434L187_uc001zds.2_Intron|CHRFAM7A_uc001zdu.1_Silent_p.R48R|CHRFAM7A_uc010azn.2_Silent_p.R48R	NM_139320	NP_683709	Q494W8	CRFM7_HUMAN	Homo sapiens CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion (CHRFAM7A), transcript variant 1, mRNA.	139						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		AGTAGAGCGTCCTGCGGCGCA	0.572													T	30664456	C	T	30664456	2	4	227	1	0	0	0	0	0	0	0	1	3405	854	30	2		2	CHRFAM7A	15	30664456	Silent	SNP	C	TCGA-32-1991-01A-01D-1353-08		30664456	71866936	54	15599											
RYR3	6263	broad.mit.edu	37	chr15	33952594	33952594	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctggagcccctgcagaTgatggcgctccacatccccg	6	7	12	16	2	0	2	0	1	0	1	2	3	2	3	6	2	3	2	6	2	0	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:33952594T>A	uc001zhi.3	+	33	4662	c.4592T>A	c.(4591-4593)aTg>aAg	p.M1531K	RYR3_uc010bar.3_Missense_Mutation_p.M1531K	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	1531	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCCTGCAGATGATGGCGCTC	0.672													A	33952594	T	A	33952594	3	1	227	1	0	0	0	0	1	0	0	0	13861	1464	51	5	4726	5	RYR3	15	33952594	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	3288138	33952594	68578798	55	15600											
WDR72	256764	broad.mit.edu	37	chr15	53998128	53998128	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaaactgacttacctctAggagaaccatcaaacttgga	16	8	8	9	0	2	2	1	1	1	1	2	5	2	4	2	3	4	0	2	3	6	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:53998128A>G	uc002acj.2	-	9	1140	c.1098T>C	c.(1096-1098)ccT>ccC	p.P366P	WDR72_uc010bfi.1_Silent_p.P366P	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN	Homo sapiens WD repeat domain 72 (WDR72), mRNA.	366										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		ACTTACCTCTAGGAGAACCAT	0.383													G	53998128	A	G	53998128	2	3	227	1	0	0	0	0	0	0	0	1	17424	407	15	3		3	WDR72	15	53998128	Silent	SNP	A	TCGA-32-1991-01A-01D-1353-08	20045534	53998128	48533264	56	15601											
PCSK6	5046	broad.mit.edu	37	chr15	101972225	101972225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttggaccaaatggggtcGttgaagtaaagggcctgcgg	10	9	16	6	2	0	1	0	1	0	0	1	2	0	2	2	5	1	3	2	5	4	3	rs117473739	by1000genomes	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr15:101972225G>A	uc002bxa.2	-	3	794	c.480C>T	c.(478-480)aaC>aaT	p.N160N	PCSK6_uc010bpd.3_Silent_p.N31N|PCSK6_uc002bwy.3_Silent_p.N160N|PCSK6_uc010bpe.3_Silent_p.N157N|PCSK6_uc002bxb.2_Silent_p.N160N|PCSK6_uc002bxc.1_Silent_p.N160N|PCSK6_uc002bxd.1_Silent_p.N160N|PCSK6_uc002bxe.3_Silent_p.N160N|PCSK6_uc002bxg.1_Silent_p.N160N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	161	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AAATGGGGTCGTTGAAGTAAA	0.512													A	101972225	G	A	101972225	2	1	227	1	0	0	0	0	0	0	0	1	11680	1136	40	1		1	PCSK6	15	101972225	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	47974097	101972225	559167	57	15602											
TSC2	7249	broad.mit.edu	37	chr16	2134267	2134267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggagaagtcgctccaCgcggaggagctggttggcag	9	5	18	9	3	0	1	0	0	0	1	2	5	1	4	1	6	1	4	1	6	1	1	rs137854084		TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:2134267C>A	uc002con.3	+	33	4150	c.4044C>A	c.(4042-4044)caC>caA	p.H1348Q	TCRBV20S1_uc021tak.1_Intron|TSC2_uc010bsd.3_Missense_Mutation_p.H1325Q|TSC2_uc002coo.3_Missense_Mutation_p.H1281Q|TSC2_uc010uvv.2_Missense_Mutation_p.H1245Q|TSC2_uc010uvw.2_Missense_Mutation_p.H1233Q|TSC2_uc002cop.3_Missense_Mutation_p.H1104Q|TSC2_uc002coq.3_Missense_Mutation_p.H123Q	NM_000548	NP_000539	P49815	TSC2_HUMAN	Homo sapiens tuberous sclerosis 2 (TSC2), transcript variant 1, mRNA.	1348					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AGTCGCTCCACGCGGAGGAGC	0.657			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	2134267	C	A	2134267	3	1	227	1	0	0	0	0	1	0	0	0	16707	535	19	4	4174	4	TSC2	16	2134267	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		2134267	88220486	58	15603											
CHD9	80205	broad.mit.edu	37	chr16	53190198	53190198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacacatcagaagatgaCtgattttgaacagttaaatc	16	11	6	8	0	1	5	1	3	0	2	3	5	2	5	1	0	2	1	1	0	5	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:53190198C>A	uc002ehb.3	+	0	361	c.197C>A	c.(196-198)aCt>aAt	p.T66N	CHD9_uc002egy.3_Missense_Mutation_p.T66N|CHD9_uc002egz.1_Missense_Mutation_p.T66N|CHD9_uc002ehc.3_Missense_Mutation_p.T66N	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	66					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAGAAGATGACTGATTTTGAA	0.363													A	53190198	C	A	53190198	3	1	227	1	0	0	0	0	1	0	0	0	3362	565	20	4	199	4	CHD9	16	53190198	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	51055931	53190198	37164555	59	15604											
SLC38A7	55238	broad.mit.edu	37	chr16	58705012	58705012	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagatcaccttgccgatgtCagggatgaagagcgccagca	11	7	13	10	2	2	3	2	2	0	2	2	6	2	4	3	1	3	1	3	1	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:58705012C>G	uc002eod.1	-	9	1561	c.1168G>C	c.(1168-1170)Gac>Cac	p.D390H	SLC38A7_uc002eoc.1_Intron|SLC38A7_uc010vil.1_Missense_Mutation_p.D301H	NM_018231	NP_060701	Q9NVC3	S38A7_HUMAN	Homo sapiens solute carrier family 38, member 7 (SLC38A7), mRNA.	390					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	13						TTGCCGATGTCAGGGATGAAG	0.667													G	58705012	C	G	58705012	3	3	227	1	0	0	0	0	1	0	0	0	14703	826	29	4	232	4	SLC38A7	16	58705012	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	5514814	58705012	31649741	60	15605											
B3GNT9	84752	broad.mit.edu	37	chr16	67184087	67184087	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcggcacttgtgcggctggTtaatgagcagtggaaaccgc	8	8	15	10	4	0	1	0	1	0	0	0	2	0	2	1	4	3	4	1	4	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr16:67184087T>G	uc021tka.1	-	0	302	c.302A>C	c.(301-303)aAc>aCc	p.N101T	B3GNT9_uc002erf.3_Missense_Mutation_p.N101T|BC007896_uc002erg.1_Missense_Mutation_p.L164V	NM_033309	NP_171608	Q6UX72	B3GN9_HUMAN	Homo sapiens UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9 (B3GNT9), mRNA.	101					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6						GTGCGGCTGGTTAATGAGCAG	0.672													G	67184087	T	G	67184087	3	3	227	1	0	0	0	0	1	0	0	0	1269	1725	60	5	910	5	B3GNT9	16	67184087	Missense_Mutation	SNP	T	TCGA-32-1991-01A-01D-1353-08	8479075	67184087	23170666	61	15606											
NEUROD2	4761	broad.mit.edu	37	chr17	37762281	37762281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagacccttgcacagaGtctgcacgtaggacactagg	11	6	12	12	2	1	2	0	0	1	2	1	4	1	3	1	2	2	3	1	2	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr17:37762281G>A	uc002hry.3	-	1	772	c.572C>T	c.(571-573)aCt>aTt	p.T191I	NEUROD2_uc021tws.1_Missense_Mutation_p.T191I	NM_006160	NP_006151	Q15784	NDF2_HUMAN	Homo sapiens neurogenic differentiation 2 (NEUROD2), mRNA.	191					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			CTTGCACAGAGTCTGCACGTA	0.622													A	37762281	G	A	37762281	3	1	227	1	0	0	0	0	1	0	0	0	10425	1029	36	2	580	2	NEUROD2	17	37762281	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		37762281	43432929	62	15607											
ZNF516	9658	broad.mit.edu	37	chr18	74090999	74090999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgggcctgcaaggccGcgtcgcccctggaccccgca	4	4	15	18	5	0	0	0	0	0	0	1	1	0	1	6	4	1	3	6	4	1	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr18:74090999G>A	uc021ulp.1	-	3	3389	c.3071C>T	c.(3070-3072)gCg>gTg	p.A1024V	ZNF516_uc002lmd.3_Non-coding_Transcript	NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	1024					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTGCAAGGCCGCGTCGCCCCT	0.721													A	74090999	G	A	74090999	3	1	227	1	0	0	0	0	1	0	0	0	18061	1087	38	1	437	1	ZNF516	18	74090999	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08		74090999	3986249	63	15608											
EVI5L	115704	broad.mit.edu	37	chr19	7928493	7928493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgatgcgcgcttcttcCgccgtctggagcggccggcc	2	7	15	17	9	2	0	0	0	2	0	3	2	3	1	4	3	2	1	4	3	0	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:7928493C>A	uc010xjz.2	+	18	2370	c.2323C>A	c.(2323-2325)Cgc>Agc	p.R775S	EVI5L_uc002min.3_Missense_Mutation_p.R764S	NM_001159944	NP_001153416	Q96CN4	EVI5L_HUMAN	Homo sapiens ecotropic viral integration site 5-like (EVI5L), transcript variant 1, mRNA.	764						intracellular	protein binding|Rab GTPase activator activity			breast(1)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	12						GCGCTTCTTCCGCCGTCTGGA	0.687													A	7928493	C	A	7928493	3	1	227	1	0	0	0	0	1	0	0	0	5331	652	23	4	2397	4	EVI5L	19	7928493	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		7928493	51200490	64	15609											
CILP2	148113	broad.mit.edu	37	chr19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctcgaggtgccggcGtgtaccacgaggtcaaggcc	7	8	14	12	4	1	1	1	1	0	0	3	3	2	1	4	4	2	1	4	4	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:19654993G>A	uc002nmw.4	+	7	1742	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	CILP2_uc002nmv.4_Missense_Mutation_p.V547M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	547						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622													A	19654993	G	A	19654993	3	1	227	1	0	0	0	0	1	0	0	0	3460	1145	40	1	1669	1	CILP2	19	19654993	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	11726500	19654993	39473990	65	15610											
PSG3	5671	broad.mit.edu	37	chr19	43233959	43233959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgactgggtaactgCggatgccaccatatcggtcc	8	9	13	11	2	1	1	1	1	0	0	3	2	2	2	3	4	3	1	3	4	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:43233959C>T	uc002oue.3	-	3	1091	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PSG3_uc002ouf.3_Non-coding_Transcript|PSG3_uc002oug.1_Intron	NM_021016	NP_066296	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 3 (PSG3), mRNA.	320	Ig-like C2-type 2.				defense response|female pregnancy	extracellular region		p.R320C(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				TGGGTAACTGCGGATGCCACC	0.493													T	43233959	C	T	43233959	3	4	227	1	0	0	0	0	1	0	0	0	12741	768	27	1	339	1	PSG3	19	43233959	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	23578966	43233959	15895024	66	15611											
RUVBL2	10856	broad.mit.edu	37	chr19	49510608	49510608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggagatccagattgatCgaccagcaacagggacggtg	11	7	15	8	2	0	3	0	1	0	2	2	6	1	4	2	4	2	1	2	4	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49510608C>T	uc002plr.1	+	5	458	c.445C>T	c.(445-447)Cga>Tga	p.R149*	RUVBL2_uc010yab.2_Nonsense_Mutation_p.R149*|RUVBL2_uc002pls.1_Non-coding_Transcript|RUVBL2_uc010emn.1_Nonsense_Mutation_p.R104*	NM_006666	NP_006657	Q9Y230	RUVB2_HUMAN	Homo sapiens RuvB-like 2 (E. coli) (RUVBL2), mRNA.	149					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGATTGATCGACCAGCAAC	0.587													T	49510608	C	T	49510608	4	4	227	1	0	0	0	0	0	1	0	0	13844	876	31	1	467	1	RUVBL2	19	49510608	Nonsense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	6276649	49510608	9618375	67	15612											
LHB	3972	broad.mit.edu	37	chr19	49519328	49519328	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcggggagggtctttaGaggaagaggaggcctgagag	9	6	21	5	1	1	3	0	1	1	3	1	7	1	6	1	7	1	1	1	7	2	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:49519328G>T	uc002plt.3	-	2	432	c.423C>A	c.(421-423)ctC>ctA	p.L141L		NM_000894	NP_000885	P01229	LSHB_HUMAN	Homo sapiens luteinizing hormone beta polypeptide (LHB), mRNA.	141					cell-cell signaling|cellular nitrogen compound metabolic process|male gonad development|peptide hormone processing|progesterone biosynthetic process|signal transduction	extracellular region|soluble fraction	hormone activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Lutropin alfa(DB00044)|Menotropins(DB00032)	AGGGTCTTTAGAGGAAGAGGA	0.622													T	49519328	G	T	49519328	2	4	227	1	0	0	0	0	0	0	0	1	8821	929	33	4		4	LHB	19	49519328	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	8720	49519328	9609655	68	15613											
AP2A1	160	broad.mit.edu	37	chr19	50270423	50270423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaagggcgatgggatgcgGgggctcgcggtgttcatctc	5	9	17	10	4	2	0	1	0	1	0	5	2	3	1	1	5	1	2	1	5	1	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:50270423G>A	uc002ppn.3	+	0	244	c.33G>A	c.(31-33)cgG>cgA	p.R11R	AP2A1_uc010enj.1_Non-coding_Transcript|AP2A1_uc002ppo.3_Silent_p.R11R	NM_014203	NP_055018	O95782	AP2A1_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 1 subunit (AP2A1), transcript variant 1, mRNA.	11					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGGATGCGGGGGCTCGCGG	0.706													A	50270423	G	A	50270423	2	1	227	1	0	0	0	0	0	0	0	1	741	1219	43	2		2	AP2A1	19	50270423	Silent	SNP	G	TCGA-32-1991-01A-01D-1353-08	751095	50270423	8858560	69	15614											
CEACAM18	729767	broad.mit.edu	37	chr19	51981792	51981792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgaaggctgggagaCgagaccggcagcctctgtgc	7	5	15	14	3	1	3	0	1	1	2	1	5	1	3	4	3	2	2	4	3	1	0	rs140323408	by1000genomes	TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:51981792C>G	uc002pwv.1	+	1	79	c.79C>G	c.(79-81)Cga>Gga	p.R27G		NM_001080405	NP_001073874	A8MTB9	CEA18_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 18 (CEACAM18), mRNA.	27						integral to membrane		p.R27*(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(8)|skin(1)	17		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCTGGGAGACGAGACCGGCA	0.647													G	51981792	C	G	51981792	3	3	227	1	0	0	0	0	1	0	0	0	3219	528	19	4	85	4	CEACAM18	19	51981792	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	1711369	51981792	7147191	70	15615											
PRKCG	5582	broad.mit.edu	37	chr19	54395012	54395012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcatcccagaccctcGgaacctgacgaaacagaaga	15	4	9	13	2	1	4	1	1	0	3	3	7	2	5	3	1	3	1	3	1	4	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:54395012G>A	uc002qcq.1	+	5	896	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	PRKCG_uc010eqz.1_Missense_Mutation_p.R205Q|PRKCG_uc010yef.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeg.1_Missense_Mutation_p.R205Q|PRKCG_uc010yeh.1_Missense_Mutation_p.R92Q|Mir_324_uc021vbc.1_5'Flank	NM_002739	NP_002730	P05129	KPCG_HUMAN	Homo sapiens protein kinase C, gamma (PRKCG), mRNA.	205	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.R205Q(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCAGACCCTCGGAACCTGACG	0.532													A	54395012	G	A	54395012	3	1	227	1	0	0	0	0	1	0	0	0	12598	1116	39	1	636	1	PRKCG	19	54395012	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	2413220	54395012	4733971	71	15616											
NLRP2	55655	broad.mit.edu	37	chr19	55494705	55494705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagtagaaagactcaggAaccccgacctgatccaagca	14	4	10	13	2	1	3	1	1	0	2	2	6	2	5	5	2	2	2	5	2	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr19:55494705A>T	uc021vbq.1	+	5	1750	c.1639A>T	c.(1639-1641)Aac>Tac	p.N547Y	NLRP2_uc010yfp.2_Missense_Mutation_p.N524Y|NLRP2_uc002qij.3_Missense_Mutation_p.N547Y|NLRP2_uc010esp.3_Missense_Mutation_p.N525Y|NLRP2_uc010esn.3_Missense_Mutation_p.N523Y|NLRP2_uc010eso.3_Missense_Mutation_p.N544Y	NM_001174081	NP_060322	Q9NX02	NALP2_HUMAN	Homo sapiens NLR family, pyrin domain containing 2 (NLRP2), transcript variant 2, mRNA.	547					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		AAGACTCAGGAACCCCGACCT	0.567													T	55494705	A	T	55494705	3	4	227	1	0	0	0	0	1	0	0	0	10553	246	9	5	1657	5	NLRP2	19	55494705	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	1099693	55494705	3634278	72	15617											
CEBPB	1051	broad.mit.edu	37	chr20	48807614	48807614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcatgtctccccctgcCgccgccgccgcctgccttta	3	8	8	22	4	1	0	0	0	1	0	2	0	1	0	9	0	3	1	9	0	1	2			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr20:48807614C>T	uc002xvi.2	+	0	495	c.44C>T	c.(43-45)cCg>cTg	p.P15L		NM_005194	NP_005185	P17676	CEBPB_HUMAN	Homo sapiens CCAAT/enhancer binding protein (C/EBP), beta (CEBPB), mRNA.	15	Required for Lys-174 sumoylation.				acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			CTCCCCCTGCCGCCGCCGCCG	0.726													T	48807614	C	T	48807614	3	4	227	1	0	0	0	0	1	0	0	0	3230	652	23	1	46	1	CEBPB	20	48807614	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		48807614	14217906	73	15618											
HIRA	7290	broad.mit.edu	37	chr22	19365576	19365576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggatgctgttaaagaatgCcgtggagaagtccctgtcat	10	10	14	7	1	1	2	1	0	0	2	2	4	2	3	2	3	2	2	2	3	4	1			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chr22:19365576C>T	uc002zpf.1	-	13	1649	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	HIRA_uc011agx.1_Missense_Mutation_p.A343T|HIRA_uc010grn.1_Missense_Mutation_p.A477T|HIRA_uc010gro.2_Missense_Mutation_p.A433T|HIRA_uc010grp.3_Non-coding_Transcript	NM_003325	NP_003316	P54198	HIRA_HUMAN	Homo sapiens HIR histone cell cycle regulation defective homolog A (S. cerevisiae) (HIRA), mRNA.	477	Interaction with ASF1A.|Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					TTAAAGAATGCCGTGGAGAAG	0.488													T	19365576	C	T	19365576	3	4	227	1	0	0	0	0	1	0	0	0	7175	739	26	2	1672	2	HIRA	22	19365576	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		19365576	31938990	74	15619											
DDX3X	1654	broad.mit.edu	37	chrX	41204796	41204796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttgacctcctaaatgCaacaggtaacattatgaatt	13	13	6	9	0	1	2	0	2	1	0	2	2	2	2	2	1	4	3	2	1	6	5			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:41204796C>A	uc004dfe.3	+	11	2165	c.1310C>A	c.(1309-1311)gCa>gAa	p.A437E	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_Missense_Mutation_p.A437E|DDX3X_uc011mkq.2_Missense_Mutation_p.A421E|DDX3X_uc011mkr.2_Intron|DDX3X_uc004dfg.3_Non-coding_Transcript|DDX3X_uc011mkt.1_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	437	Helicase C-terminal.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						CTCCTAAATGCAACAGGTAAC	0.418										HNSCC(61;0.18)			A	41204796	C	A	41204796	3	1	227	1	0	0	0	0	1	0	0	0	4392	710	25	4	1356	4	DDX3X	23	41204796	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08		41204796	114065764	75	15620											
AKAP4	8852	broad.mit.edu	37	chrX	49957173	49957173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgaaattgggcttatttgCcgaggctgcttgttcttcca	6	15	10	10	1	1	1	0	1	1	0	2	2	2	1	3	2	2	4	3	2	2	6			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:49957173C>T	uc004dow.1	-	4	2315	c.2191G>A	c.(2191-2193)Gca>Aca	p.A731T	AKAP4_uc004dou.1_Missense_Mutation_p.A722T|AKAP4_uc004dov.1_Missense_Mutation_p.A348T|AKAP4_uc010njp.1_Missense_Mutation_p.A553T	NM_003886	NP_647450	Q5JQC9	AKAP4_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 4 (AKAP4), transcript variant 1, mRNA.	731					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GGCTTATTTGCCGAGGCTGCT	0.448													T	49957173	C	T	49957173	3	4	227	1	0	0	0	0	1	0	0	0	453	739	26	2	381	2	AKAP4	23	49957173	Missense_Mutation	SNP	C	TCGA-32-1991-01A-01D-1353-08	8752377	49957173	105313387	76	15621											
RGAG1	57529	broad.mit.edu	37	chrX	109694254	109694254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtccacttcagagtatgggGtaatgtccccagggatgatg	9	11	13	8	0	1	2	1	1	0	1	3	3	3	3	3	3	0	2	3	3	2	3			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:109694254G>A	uc004eor.2	+	2	655	c.409G>A	c.(409-411)Gta>Ata	p.V137I	RGAG1_uc011msr.1_Missense_Mutation_p.V137I	NM_020769	NP_065820	Q8NET4	RGAG1_HUMAN	Homo sapiens retrotransposon gag domain containing 1 (RGAG1), mRNA.	137										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGAGTATGGGGTAATGTCCCC	0.502													A	109694254	G	A	109694254	3	1	227	1	0	0	0	0	1	0	0	0	13362	1261	44	2	411	2	RGAG1	23	109694254	Missense_Mutation	SNP	G	TCGA-32-1991-01A-01D-1353-08	59737081	109694254	45576306	77	15622											
MAGEA11	4110	broad.mit.edu	37	chrX	148794878	148794878	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgccagcatcaagaggaAgaagaagagggaggactcag	15	3	14	9	0	2	4	2	0	0	4	2	7	2	7	2	3	2	1	2	3	4	0			TCGA-32-1991-01A-01D-1353-08	TCGA-32-1991-10C-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4221fc24-897f-493b-ba37-34bf90986d7c	8191e3a5-eb2a-4912-a644-f942db086777	g.chrX:148794878A>C	uc004fdq.3	+	1	214	c.59A>C	c.(58-60)aAg>aCg	p.K20T	MAGEA11_uc004fdr.3_Intron	NM_005366	NP_005357	P43364	MAGAB_HUMAN	Homo sapiens melanoma antigen family A, 11 (MAGEA11), transcript variant 1, mRNA.	20						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ATCAAGAGGAAGAAGAAGAGG	0.572													C	148794878	A	C	148794878	3	2	227	1	0	0	0	0	1	0	0	0	9236	72	3	5	74	5	MAGEA11	23	148794878	Missense_Mutation	SNP	A	TCGA-32-1991-01A-01D-1353-08	39100624	148794878	6475682	78	15623											
CCDC27	148870	broad.mit.edu	37	chr1	3684010	3684010	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagagctcccagtccaggGtatgcccagcccttcctcct	6	9	10	16	0	0	1	0	0	0	1	4	2	4	1	6	2	3	2	6	2	1	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:3684010G>A	uc001akv.2	+	10	1824	c.1743_splice	c.e10+1	p.R581_splice		NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	581										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CCAGTCCAGGGTATGCCCAGC	0.647													A	3684010	G	A	3684010	5	1	228	1	0	0	0	0	0	0	1	0	2828	1275	44	2	1782	2	CCDC27	1	3684010	Splice_Site	SNP	G	TCGA-32-2491-01A-01D-1353-08		3684010	245566611	1	15624											
CASZ1	54897	broad.mit.edu	37	chr1	10702922	10702922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgccgctcacctgccgCggtgctctcgttacccacgg	3	9	11	18	5	2	0	1	0	1	0	3	0	2	0	5	2	5	3	5	2	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:10702922C>T	uc001aro.3	-	19	4476	c.4156G>A	c.(4156-4158)Gcg>Acg	p.A1386T		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TCACCTGCCGCGGTGCTCTCG	0.687													T	10702922	C	T	10702922	3	4	228	1	0	0	0	0	1	0	0	0	2711	768	27	1	1131	1	CASZ1	1	10702922	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	7018912	10702922	238547699	2	15625											
HSPG2	3339	broad.mit.edu	37	chr1	22170742	22170742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccagggtctgcccttctgCcactcgggaggaggagggct	6	8	15	12	1	2	0	0	0	2	0	4	3	3	3	3	5	2	1	3	5	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:22170742C>G	uc009vqd.3	-	64	8558	c.8518G>C	c.(8518-8520)Gca>Cca	p.A2840P	HSPG2_uc001bfj.3_Missense_Mutation_p.A2839P	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	2839	Ig-like C2-type 14.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCCTTCTGCCACTCGGGAG	0.682													G	22170742	C	G	22170742	3	3	228	1	0	0	0	0	1	0	0	0	7488	739	26	4	4792	4	HSPG2	1	22170742	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	11467820	22170742	227079879	3	15626											
GRIK3	2899	broad.mit.edu	37	chr1	37282846	37282846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatgccaccaatgatgcGtgtggacagggctttgggca	9	8	14	10	1	0	2	0	1	0	1	0	3	0	3	3	3	2	2	3	3	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:37282846G>A	uc001caz.2	-	12	2041	c.1906C>T	c.(1906-1908)Cgc>Tgc	p.R636C	GRIK3_uc001cba.1_Missense_Mutation_p.R636C	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	636					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CCAATGATGCGTGTGGACAGG	0.562													A	37282846	G	A	37282846	3	1	228	1	0	0	0	0	1	0	0	0	6830	1145	40	1	869	1	GRIK3	1	37282846	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	15112104	37282846	211967775	4	15627											
PIK3R3	8503	broad.mit.edu	37	chr1	46509434	46509434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccaaggatgtctgctGgtaatggagcactagctcct	10	10	11	10	0	1	1	0	1	1	0	2	3	2	3	2	3	4	4	2	3	4	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:46509434G>T	uc010olw.2	-	9	1452	c.1435C>A	c.(1435-1437)Cag>Aag	p.Q479K	PIK3R3_uc001cpb.4_Missense_Mutation_p.Q433K|PIK3R3_uc009vyb.3_Missense_Mutation_p.Q374K|PIK3R3_uc009vyc.3_Missense_Mutation_p.Q450K|PIK3R3_uc001cpc.4_Missense_Mutation_p.Q433K|PIK3R3_uc010olv.2_Missense_Mutation_p.Q223K	NM_003629	NP_003620	Q92569	P55G_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 3 (gamma) (PIK3R3), transcript variant 1, mRNA.	433					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					GATGTCTGCTGGTAATGGAGC	0.532													T	46509434	G	T	46509434	3	4	228	1	0	0	0	0	1	0	0	0	11997	1357	47	4	92	4	PIK3R3	1	46509434	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	9226588	46509434	202741187	5	15628											
PARS2	25973	broad.mit.edu	37	chr1	55224003	55224003	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctccatgttggctgagaAgctgcagcggggacagatgg	8	9	16	8	1	1	2	0	1	1	2	2	4	1	3	1	4	3	4	1	4	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:55224003A>T	uc021ont.1	-	0	832	c.832T>A	c.(832-834)Ttc>Atc	p.F278I	PARS2_uc001cxy.3_Missense_Mutation_p.F278I	NM_152268	NP_689481	Q7L3T8	SYPM_HUMAN	Homo sapiens prolyl-tRNA synthetase 2, mitochondrial (putative) (PARS2), nuclear gene encoding mitochondrial protein, mRNA.	278					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	TTGGCTGAGAAGCTGCAGCGG	0.562													T	55224003	A	T	55224003	3	4	228	1	0	0	0	0	1	0	0	0	11543	72	3	5	599	5	PARS2	1	55224003	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	8714569	55224003	194026618	6	15629											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507037	74507037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtcctctggtcaaaagAgtgcgctcattatttaagtt	11	14	9	7	1	3	1	2	0	1	1	4	1	4	1	1	1	1	3	1	1	5	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:74507037A>G	uc001dfy.4	-	6	1770	c.1578T>C	c.(1576-1578)acT>acC	p.T526T	LRRIQ3_uc001dfz.4_Intron	NM_001105659	NP_001099129	A6PVS8	LRIQ3_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 3 (LRRIQ3), mRNA.	526								p.T526T(2)|p.R525C(2)|p.R525L(1)|p.R525F(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						TGGTCAAAAGAGTGCGCTCAT	0.358													G	74507037	A	G	74507037	2	3	228	1	0	0	0	0	0	0	0	1	9100	291	11	3		3	LRRIQ3	1	74507037	Silent	SNP	A	TCGA-32-2491-01A-01D-1353-08	19283034	74507037	174743584	7	15630											
SF3B4	10262	broad.mit.edu	37	chr1	149898406	149898406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagaagtcgttcggctgCtgagccatggcgctcaccct	6	9	12	14	3	1	2	1	1	0	1	3	2	1	2	3	2	3	4	3	2	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:149898406C>G	uc001etk.2	-	2	1061	c.568G>C	c.(568-570)Gca>Cca	p.A190P	SF3B4_uc009wll.1_Missense_Mutation_p.A190P	NM_005850	NP_005841	Q15427	SF3B4_HUMAN	Homo sapiens splicing factor 3b, subunit 4, 49kDa (SF3B4), mRNA.	190						nucleoplasm|U12-type spliceosomal complex	nucleotide binding|protein binding|RNA binding			endometrium(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)	17	Breast(34;0.0009)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CGTTCGGCTGCTGAGCCATGG	0.562													G	149898406	C	G	149898406	3	3	228	1	0	0	0	0	1	0	0	0	14246	797	28	4	722	4	SF3B4	1	149898406	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	75391369	149898406	99352215	8	15631											
FMO3	2328	broad.mit.edu	37	chr1	171079944	171079944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtgttttttaaggtcatGatcagttccagaagtggctc	8	16	11	6	0	2	2	2	1	0	1	4	2	3	2	1	3	0	3	1	3	2	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:171079944G>A	uc001ghi.3	+	5	744	c.633G>A	c.(631-633)atG>atA	p.M211I	FMO3_uc001ghh.3_Missense_Mutation_p.M211I|FMO3_uc010pmb.2_Missense_Mutation_p.M191I|FMO3_uc010pmc.2_Missense_Mutation_p.M148I	NM_001002294	NP_008825	P31513	FMO3_HUMAN	Homo sapiens flavin containing monooxygenase 3 (FMO3), transcript variant 2, mRNA.	211					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTAAGGTCATGATCAGTTCCA	0.463													A	171079944	G	A	171079944	3	1	228	1	0	0	0	0	1	0	0	0	6005	1290	45	2	651	2	FMO3	1	171079944	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21181538	171079944	78170677	9	15632											
ABL2	27	broad.mit.edu	37	chr1	179086548	179086548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataggaaatttggctccagCatgagcagtataagtgtctc	13	11	10	7	0	1	1	0	1	1	0	3	2	2	2	1	2	2	4	1	2	5	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:179086548C>T	uc001gmj.4	-	7	1614	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	ABL2_uc010pnf.2_Missense_Mutation_p.A443T|ABL2_uc010png.2_Missense_Mutation_p.A422T|ABL2_uc010pnh.2_Missense_Mutation_p.A422T|ABL2_uc009wxe.3_Missense_Mutation_p.A422T|ABL2_uc001gmg.4_Missense_Mutation_p.A428T|ABL2_uc001gmi.4_Missense_Mutation_p.A428T|ABL2_uc010pne.2_Missense_Mutation_p.A407T|ABL2_uc001gmk.3_Missense_Mutation_p.A407T|ABL2_uc009wxf.2_Missense_Mutation_p.A428T	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	443	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTGGCTCCAGCATGAGCAGTA	0.443			T	ETV6	AML								T	179086548	C	T	179086548	3	4	228	1	0	0	0	0	1	0	0	0	93	710	25	2	2286	2	ABL2	1	179086548	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	8006604	179086548	70164073	10	15633											
PTPRC	5788	broad.mit.edu	37	chr1	198685877	198685877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaaatttaaaaccttataCgaaatatgttttatcattac	17	15	3	6	1	1	0	1	0	0	0	1	1	1	0	1	0	3	2	1	0	10	8			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:198685877C>T	uc001gur.1	+	12	1532	c.1352C>T	c.(1351-1353)aCg>aTg	p.T451M	PTPRC_uc001gut.1_Missense_Mutation_p.T290M|PTPRC_uc009wzf.1_Missense_Mutation_p.T339M|PTPRC_uc021pgy.1_Missense_Mutation_p.T405M|PTPRC_uc010ppg.1_Missense_Mutation_p.T387M	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	451	Fibronectin type-III 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAACCTTATACGAAATATGTT	0.313													T	198685877	C	T	198685877	3	4	228	1	0	0	0	0	1	0	0	0	12885	536	19	1	1409	1	PTPRC	1	198685877	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	19599329	198685877	50564744	11	15634											
OPTC	26254	broad.mit.edu	37	chr1	203466194	203466194	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctcgtcaaaccccacgatGaccagacctactacagcagg	12	5	7	17	2	1	2	1	1	0	1	2	3	1	2	5	1	4	1	5	1	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:203466194G>C	uc001gzu.1	+	2	437	c.321G>C	c.(319-321)atG>atC	p.M107I		NM_014359	NP_055174	Q9UBM4	OPT_HUMAN	Homo sapiens opticin (OPTC), mRNA.	107	Ser/Thr-rich.					proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCCCACGATGACCAGACCTA	0.562													C	203466194	G	C	203466194	3	2	228	1	0	0	0	0	1	0	0	0	10964	1290	45	4	327	4	OPTC	1	203466194	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4780317	203466194	45784427	12	15635											
OBSCN	84033	broad.mit.edu	37	chr1	228404990	228404990	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccggctccgcgtctctgGtgagcacgctgtgtgtgcat	3	12	13	13	4	1	1	0	1	1	0	4	1	3	1	2	2	2	4	2	2	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:228404990G>T	uc009xez.1	+	8	2697	c.2653_splice	c.e8+1	p.E885_splice	OBSCN_uc001hsn.3_Splice_Site_p.E885_splice	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	885					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGCGTCTCTGGTGAGCACGCT	0.652													T	228404990	G	T	228404990	5	4	228	1	0	0	0	0	0	0	1	0	10888	1275	44	4	2680	4	OBSCN	1	228404990	Splice_Site	SNP	G	TCGA-32-2491-01A-01D-1353-08	24938796	228404990	20845631	13	15636											
CHML	1122	broad.mit.edu	37	chr1	241797601	241797601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacataattctgtgacccGtacagcacaagctcctggct	12	9	8	12	1	1	2	0	1	1	1	2	2	2	2	2	1	4	4	2	1	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr1:241797601G>A	uc001hzd.3	-	0	1632	c.1468C>T	c.(1468-1470)Cgg>Tgg	p.R490W	OPN3_uc001hza.3_Intron|OPN3_uc001hzb.3_Intron|OPN3_uc001hzc.3_Intron	NM_001821	NP_001812	P26374	RAE2_HUMAN	Homo sapiens choroideremia-like (Rab escort protein 2) (CHML), mRNA.	490					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TCTGTGACCCGTACAGCACAA	0.418													A	241797601	G	A	241797601	3	1	228	1	0	0	0	0	1	0	0	0	3381	1144	40	1	506	1	CHML	1	241797601	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	13392611	241797601	7453020	14	15637											
GDF7	151449	broad.mit.edu	37	chr2	20870425	20870425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcctgctgtactcgcGggcagctgagcccctagtcg	5	7	13	16	4	0	1	0	1	0	0	2	1	0	1	4	1	4	4	4	1	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:20870425G>A	uc002rdz.1	+	1	1169	c.593G>A	c.(592-594)cGg>cAg	p.R198Q		NM_182828	NP_878248	Q7Z4P5	GDF7_HUMAN	Homo sapiens growth differentiation factor 7 (GDF7), mRNA.	198					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGTACTCGCGGGCAGCTGAG	0.731													A	20870425	G	A	20870425	3	1	228	1	0	0	0	0	1	0	0	0	6374	1116	39	1	599	1	GDF7	2	20870425	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		20870425	222328948	15	15638											
CAPN13	92291	broad.mit.edu	37	chr2	30986009	30986009	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccattctccatcgcctgtGctgtatctgttggcttcaag	5	14	9	13	1	3	0	1	0	2	0	5	0	3	0	3	1	1	4	3	1	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:30986009G>C	uc021vfn.1	-	5	745	c.713C>G	c.(712-714)gCa>gGa	p.A238G	CAPN13_uc021vfm.1_Missense_Mutation_p.A238G|CAPN13_uc002rnp.1_Missense_Mutation_p.A238G	NM_144575	NP_653176	Q6MZZ7	CAN13_HUMAN	Homo sapiens calpain 13 (CAPN13), mRNA.	238	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					CATCGCCTGTGCTGTATCTGT	0.522													C	30986009	G	C	30986009	3	2	228	1	0	0	0	0	1	0	0	0	2652	1319	46	4	1360	4	CAPN13	2	30986009	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10115584	30986009	212213364	16	15639											
EHBP1	23301	broad.mit.edu	37	chr2	63086375	63086375	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccgtgaattcaaatccatttGatgatcctgatgctgcagaa	12	12	8	9	1	1	5	1	4	0	1	3	5	3	5	3	0	2	2	3	0	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:63086375G>C	uc002sby.3	+	8	1293	c.811G>C	c.(811-813)Gat>Cat	p.D271H	EHBP1_uc010fcp.3_Missense_Mutation_p.D236H|EHBP1_uc002sbx.2_Missense_Mutation_p.D236H|EHBP1_uc002sbz.3_Missense_Mutation_p.D236H|EHBP1_uc002scb.3_Missense_Mutation_p.D236H	NM_015252	NP_056067	Q8NDI1	EHBP1_HUMAN	Homo sapiens EH domain binding protein 1 (EHBP1), transcript variant 1, mRNA.	271						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AAATCCATTTGATGATCCTGA	0.358													C	63086375	G	C	63086375	3	2	228	1	0	0	0	0	1	0	0	0	5014	1290	45	4	841	4	EHBP1	2	63086375	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	32100366	63086375	180112998	17	15640											
SMYD5	10322	broad.mit.edu	37	chr2	73449902	73449902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaactggaacttctgcGgagactcttcacagaggccc	9	7	12	13	1	3	2	1	0	2	2	3	4	3	3	2	4	3	0	2	4	2	2	rs116053390	by1000genomes	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:73449902G>A	uc002siw.2	+	6	691	c.662G>A	c.(661-663)cGg>cAg	p.R221Q	SMYD5_uc010yre.1_Missense_Mutation_p.R105Q	NM_006062	NP_006053	Q6GMV2	SMYD5_HUMAN	Homo sapiens SMYD family member 5 (SMYD5), mRNA.	221							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						GAACTTCTGCGGAGACTCTTC	0.592													A	73449902	G	A	73449902	3	1	228	1	0	0	0	0	1	0	0	0	14919	1116	39	1	688	1	SMYD5	2	73449902	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10363527	73449902	169749471	18	15641											
SEMA4F	10505	broad.mit.edu	37	chr2	74907015	74907016	+	Frame_Shift_Ins	INS	-	-	G																															cagtgggggcgggactggctINSggcttcttcttggggattct																										TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:74907015_74907016insG	uc002sna.1	+	13	2103_2104	c.1992_1993insG	c.(1990-1995)gctggcfs	p.A664fs	SEMA4F_uc010ffr.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snb.1_Frame_Shift_Ins_p.A276fs|SEMA4F_uc002snc.1_Frame_Shift_Ins_p.A509fs	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	664					cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity	p.G665V(1)		biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CGGGACTGGCTGGCTTCTTCTT	0.619													G	74907016	-	G	74907015	7	5	228	1	0	1	1	0	0	0	0	0	14128	1567	55	0	2046	0	SEMA4F	2	74907015	Frame_Shift_Ins	INS	-	TCGA-32-2491-01A-01D-1353-08	1457113	74907015	168292358	19	15642											
CLASP1	23332	broad.mit.edu	37	chr2	122220134	122220134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaggtacatcatcaaatgCtttaataaaatcctcttcat	15	14	3	9	0	4	0	3	0	1	0	5	0	5	0	1	1	3	2	1	1	6	6			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:122220134C>T	uc002tnc.3	-	9	1303	c.913G>A	c.(913-915)Gca>Aca	p.A305T	CLASP1_uc010yyw.2_Non-coding_Transcript|CLASP1_uc002tnb.3_Non-coding_Transcript|CLASP1_uc010yyx.2_Non-coding_Transcript|CLASP1_uc010yyy.2_Non-coding_Transcript|CLASP1_uc010yyz.2_Missense_Mutation_p.A305T|CLASP1_uc010yza.2_Missense_Mutation_p.A305T|CLASP1_uc021vnl.1_Missense_Mutation_p.A305T|CLASP1_uc010yzc.2_Non-coding_Transcript|CLASP1_uc002tng.1_Missense_Mutation_p.A305T	NM_015282	NP_056097	Q7Z460	CLAP1_HUMAN	Homo sapiens cytoplasmic linker associated protein 1 (CLASP1), transcript variant 1, mRNA.	305					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCATCAAATGCTTTAATAAAA	0.328													T	122220134	C	T	122220134	3	4	228	1	0	0	0	0	1	0	0	0	3485	797	28	2	3879	2	CLASP1	2	122220134	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	47313119	122220134	120979239	20	15643											
MYO3B	140469	broad.mit.edu	37	chr2	171358331	171358331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcggaggaaatttaagaAaataagcaacagaaggaatg	19	7	11	4	1	0	2	0	0	0	2	1	5	0	5	0	3	3	2	0	3	8	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:171358331A>G	uc002ufy.3	+	27	3469	c.3326A>G	c.(3325-3327)aAa>aGa	p.K1109R	MYO3B_uc002ufv.3_Missense_Mutation_p.K1096R|MYO3B_uc010fqb.1_Missense_Mutation_p.K1109R|MYO3B_uc002ufz.3_Intron|MYO3B_uc002ufw.3_Non-coding_Transcript|MYO3B_uc002ufx.3_Intron|MYO3B_uc002ugb.3_Intron	NM_138995	NP_620482	Q8WXR4	MYO3B_HUMAN	Homo sapiens myosin IIIB (MYO3B), transcript variant 2, mRNA.	1109	IQ 2.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAATTTAAGAAAATAAGCAAC	0.348													G	171358331	A	G	171358331	3	3	228	1	0	0	0	0	1	0	0	0	10153	14	1	3	3436	3	MYO3B	2	171358331	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	49138197	171358331	71841042	21	15644											
DFNB59	494513	broad.mit.edu	37	chr2	179325759	179325759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctttacttggatgatCttttttctgactactatgac	9	17	6	9	0	2	3	0	3	2	0	2	4	2	4	0	1	3	1	0	1	3	8			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179325759C>A	uc002umi.4	+	6	1173	c.817C>A	c.(817-819)Ctt>Att	p.L273I	MIR548N_uc021vsx.1_Intron|DFNB59_uc002umj.4_Missense_Mutation_p.L273I	NM_001042702	NP_001036167	Q0ZLH3	PJVK_HUMAN	Homo sapiens deafness, autosomal recessive 59 (DFNB59), mRNA.	273					sensory perception of sound			p.L273P(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CTTGGATGATCTTTTTTCTGA	0.348													A	179325759	C	A	179325759	3	1	228	1	0	0	0	0	1	0	0	0	4495	913	32	4	839	4	DFNB59	2	179325759	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	7967428	179325759	63873614	22	15645											
TTN	7273	broad.mit.edu	37	chr2	179423224	179423224	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgcacatttaacccagtTtttctgtcctttttctagtg	7	18	5	11	0	2	0	0	0	2	0	3	0	3	0	2	0	2	2	2	0	2	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179423224T>A	uc021vsy.1	-	275	79483	c.79258A>T	c.(79258-79260)Aac>Tac	p.N26420Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.N20115Y|TTN_uc021vta.1_Missense_Mutation_p.N20048Y|TTN_uc021vtb.1_Missense_Mutation_p.N19923Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27347	Fibronectin type-III 92.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTAACCCAGTTTTTCTGTCCT	0.438													A	179423224	T	A	179423224	3	1	228	1	0	0	0	0	1	0	0	0	16837	1841	64	5	21161	5	TTN	2	179423224	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	97465	179423224	63776149	23	15646											
TTN	7273	broad.mit.edu	37	chr2	179424446	179424446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgatgtacgagagtCtgtggtatcaacataagctc	11	11	12	7	1	3	2	2	1	1	1	4	3	3	2	0	2	3	3	0	2	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:179424446C>A	uc021vsy.1	-	274	78934	c.78709G>T	c.(78709-78711)Gac>Tac	p.D26237Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.D19932Y|TTN_uc021vta.1_Missense_Mutation_p.D19865Y|TTN_uc021vtb.1_Missense_Mutation_p.D19740Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27164	Fibronectin type-III 91.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTACGAGAGTCTGTGGTATCA	0.433													A	179424446	C	A	179424446	3	1	228	1	0	0	0	0	1	0	0	0	16837	913	32	4	21714	4	TTN	2	179424446	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	1222	179424446	63774927	24	15647											
SGPP2	130367	broad.mit.edu	37	chr2	223339305	223339305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttatgtacagaagtacGtcgtgaagaattatttctac	13	13	9	6	2	1	3	0	1	1	2	2	3	1	3	0	1	3	3	0	1	8	6	rs147179845		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:223339305G>A	uc010zlo.2	+	1	238	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	SGPP2_uc010zlp.2_5'UTR	NM_152386	NP_689599	Q8IWX5	SGPP2_HUMAN	Homo sapiens sphingosine-1-phosphate phosphatase 2 (SGPP2), mRNA.	80					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		ACAGAAGTACGTCGTGAAGAA	0.363													A	223339305	G	A	223339305	3	1	228	1	0	0	0	0	1	0	0	0	14313	1145	40	1	244	1	SGPP2	2	223339305	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	43914859	223339305	19860068	25	15648											
SP140	11262	broad.mit.edu	37	chr2	231106159	231106159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaaatgaataatgtaaaCgatttagaagatagacccag	18	9	7	7	1	0	4	0	1	0	3	1	5	1	4	2	0	1	1	2	0	8	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:231106159C>T	uc002vql.3	+	3	562	c.447C>T	c.(445-447)aaC>aaT	p.N149N	SP140_uc010zma.1_Non-coding_Transcript|SP140_uc002vqk.2_Silent_p.N149N|SP140_uc002vqn.3_Silent_p.N149N|SP140_uc002vqm.3_Silent_p.N149N|SP140_uc010fxl.3_Silent_p.N149N	NM_007237	NP_009168	Q13342	LY10_HUMAN	Homo sapiens SP140 nuclear body protein (SP140), transcript variant 1, mRNA.	149					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATAATGTAAACGATTTAGAAG	0.373													T	231106159	C	T	231106159	2	4	228	1	0	0	0	0	0	0	0	1	15056	535	19	1		1	SP140	2	231106159	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	7766854	231106159	12093214	26	15649											
RBM44	375316	broad.mit.edu	37	chr2	238726827	238726827	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgcagtcagagataatcAggcaatagaagataatacgt	17	8	10	6	2	2	3	2	0	0	3	3	5	2	3	0	1	1	2	0	1	6	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr2:238726827A>G	uc002vxi.4	+	2	1400	c.1268A>G	c.(1267-1269)cAg>cGg	p.Q423R		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	422							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		AGAGATAATCAGGCAATAGAA	0.368													G	238726827	A	G	238726827	3	3	228	1	0	0	0	0	1	0	0	0	13226	188	7	3	1274	3	RBM44	2	238726827	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	7620668	238726827	4472546	27	15650											
ZFYVE20	64145	broad.mit.edu	37	chr3	15115967	15115967	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctctctgctgggctcCagctgaaaagggccgatttc	7	9	13	12	2	1	1	0	1	1	0	4	3	2	1	2	3	2	4	2	3	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:15115967C>A	uc003bzm.1	-	13	2291	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	ZFYVE20_uc010hek.1_Silent_p.L559L	NM_022340	NP_071735	Q9H1K0	RBNS5_HUMAN	Homo sapiens zinc finger, FYVE domain containing 20 (ZFYVE20), mRNA.	559	Necessary for the interaction with EHD1.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						TGCTGGGCTCCAGCTGAAAAG	0.572													A	15115967	C	A	15115967	2	1	228	1	0	0	0	0	0	0	0	1	17767	581	21	4		4	ZFYVE20	3	15115967	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		15115967	182906463	28	15651											
DHX30	22907	broad.mit.edu	37	chr3	47888187	47888187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgggtatcctgctgcGtaagctgcagagcaacccca	9	8	11	13	1	0	1	0	0	0	1	1	1	1	1	3	1	6	6	3	1	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:47888187G>A	uc003cru.3	+	10	2051	c.1625G>A	c.(1624-1626)cGt>cAt	p.R542H	DHX30_uc003crt.3_Missense_Mutation_p.R503H|MIR1226_uc021wxj.1_5'Flank	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	542	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		ATCCTGCTGCGTAAGCTGCAG	0.627													A	47888187	G	A	47888187	3	1	228	1	0	0	0	0	1	0	0	0	4543	1145	40	1	1670	1	DHX30	3	47888187	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	32772220	47888187	150134243	29	15652											
MST1	4485	broad.mit.edu	37	chr3	49724639	49724639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagcagggtctgttgtgtAgcaccaaggacctccggggt	8	8	14	11	1	1	0	0	0	1	0	2	1	2	1	3	4	2	4	3	4	2	2	rs41291704		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:49724639A>G	uc003cxg.3	-	4	622	c.550T>C	c.(550-552)Tac>Cac	p.Y184H	MST1_uc011bcs.1_Missense_Mutation_p.Y184H|MST1_uc010hkx.2_Missense_Mutation_p.Y105H|MST1_uc011bct.1_Missense_Mutation_p.Y184H|MST1_uc011bcu.1_Non-coding_Transcript|RNF123_uc003cxh.3_5'Flank	NM_020998	NP_066278	P26927	HGFL_HUMAN	Homo sapiens macrophage stimulating 1 (hepatocyte growth factor-like) (MST1), mRNA.	170	Kringle 1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTGTTGTGTAGCACCAAGGA	0.627													G	49724639	A	G	49724639	3	3	228	1	0	0	0	0	1	0	0	0	9966	420	15	3	1683	3	MST1	3	49724639	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	1836452	49724639	148297791	30	15653											
NEK4	6787	broad.mit.edu	37	chr3	52778291	52778291	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgactgctttagtcGcctcctctctctggctgata	4	16	8	13	1	2	2	0	2	2	0	6	2	4	2	3	1	1	2	3	1	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:52778291G>A	uc003dfq.4	-	10	2061	c.1858C>T	c.(1858-1860)Cga>Tga	p.R620*	NEK4_uc011bej.2_Nonsense_Mutation_p.R531*|NEK4_uc003dfr.3_Nonsense_Mutation_p.R574*	NM_003157	NP_003148	P51957	NEK4_HUMAN	Homo sapiens NIMA (never in mitosis gene a)-related kinase 4 (NEK4), transcript variant 1, mRNA.	620					cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		TGCTTTAGTCGCCTCCTCTCT	0.413													A	52778291	G	A	52778291	4	1	228	1	0	0	0	0	0	1	0	0	10402	1095	38	1	691	1	NEK4	3	52778291	Nonsense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	3053652	52778291	145244139	31	15654											
ACOX2	8309	broad.mit.edu	37	chr3	58510285	58510285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagagatctctgtggcGtggagccaggggacatctga	10	7	17	7	1	2	3	0	1	2	2	3	8	2	5	1	4	1	0	1	4	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58510285G>A	uc003dkl.3	-	10	1569	c.1394C>T	c.(1393-1395)aCg>aTg	p.T465M		NM_003500	NP_003491	Q99424	ACOX2_HUMAN	Homo sapiens acyl-CoA oxidase 2, branched chain (ACOX2), mRNA.	465					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTCTGTGGCGTGGAGCCAGG	0.617													A	58510285	G	A	58510285	3	1	228	1	0	0	0	0	1	0	0	0	159	1145	40	1	671	1	ACOX2	3	58510285	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	5731994	58510285	139512145	32	15655											
C3orf67	200844	broad.mit.edu	37	chr3	58853638	58853638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttcttgagggggatgcGgatgcataatatgtagattg	10	13	15	3	1	1	2	0	1	1	1	1	4	1	4	0	4	2	3	0	4	3	6	rs141916956	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:58853638G>A	uc003dkt.1	-	9	1074	c.665C>T	c.(664-666)cCg>cTg	p.P222L	C3orf67_uc003dks.1_Missense_Mutation_p.P37L|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_Missense_Mutation_p.P37L|C3orf67_uc003dkw.3_Intron	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	222								p.P222L(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		AGGGGGATGCGGATGCATAAT	0.388													A	58853638	G	A	58853638	3	1	228	1	0	0	0	0	1	0	0	0	2262	1116	39	1	1054	1	C3orf67	3	58853638	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	343353	58853638	139168792	33	15656											
ZXDC	79364	broad.mit.edu	37	chr3	126160628	126160628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccagctggacctggaCgccctgcgccccgcactgca	6	5	11	19	3	0	0	0	0	0	0	0	2	0	2	5	2	4	4	5	2	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:126160628C>G	uc003eiv.3	-	7	2428	c.2374G>C	c.(2374-2376)Gtc>Ctc	p.V792L	ZXDC_uc010hsh.3_Non-coding_Transcript	NM_025112	NP_079388	Q2QGD7	ZXDC_HUMAN	Homo sapiens ZXD family zinc finger C (ZXDC), transcript variant 1, mRNA.	792	Interaction with CIITA.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		TGGACCTGGACGCCCTGCGCC	0.677													G	126160628	C	G	126160628	3	3	228	1	0	0	0	0	1	0	0	0	18349	536	19	4	214	4	ZXDC	3	126160628	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	67306990	126160628	71861802	34	15657											
TRIM42	287015	broad.mit.edu	37	chr3	140397352	140397352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactactatgagagccGctgctgccgcaataccatca	10	9	8	14	2	1	1	1	1	0	1	1	2	1	1	3	0	7	4	3	0	5	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:140397352G>A	uc003eto.2	+	0	487	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_152616	NP_689829	Q8IWZ5	TRI42_HUMAN	Homo sapiens tripartite motif containing 42 (TRIM42), mRNA.	94	Cys-rich.					intracellular	zinc ion binding	p.R94C(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TATGAGAGCCGCTGCTGCCGC	0.557													A	140397352	G	A	140397352	3	1	228	1	0	0	0	0	1	0	0	0	16618	1087	38	1	283	1	TRIM42	3	140397352	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	14236724	140397352	57625078	35	15658											
CP	1356	broad.mit.edu	37	chr3	148901264	148901264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatacctagaattcccAgatgttcttcttcagctttt	10	17	4	10	0	3	2	1	0	2	2	4	2	4	2	2	0	3	2	2	0	4	9			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:148901264A>T	uc003ewy.4	-	12	2667	c.2414T>A	c.(2413-2415)cTg>cAg	p.L805Q	CP_uc011bnr.2_Non-coding_Transcript|CP_uc003ewx.4_Missense_Mutation_p.L586Q|CP_uc003ewz.3_Missense_Mutation_p.L805Q	NM_000096	NP_000087	P00450	CERU_HUMAN	Homo sapiens ceruloplasmin (ferroxidase) (CP), mRNA.	805	F5/8 type A 3.|Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	TAGAATTCCCAGATGTTCTTC	0.398													T	148901264	A	T	148901264	3	4	228	1	0	0	0	0	1	0	0	0	3818	188	7	5	811	5	CP	3	148901264	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	8503912	148901264	49121166	36	15659											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr3:178952072A>G	uc003fjk.3	+	20	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043I(62)|p.M1043V(43)|p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952072	A	G	178952072	3	3	228	1	0	0	0	0	1	0	0	0	11990	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	30050808	178952072	19070358	37	15660											
DRD5	1816	broad.mit.edu	37	chr4	9784905	9784905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatgatgcccaacgccGttacccccggcaaccgggag	9	5	10	17	4	0	1	0	1	0	0	1	2	1	2	6	2	4	2	6	2	3	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:9784905G>A	uc003gmb.4	+	0	1648	c.1252G>A	c.(1252-1254)Gtt>Att	p.V418I		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	418					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.A417T(2)|p.V418I(2)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GCCCAACGCCGTTACCCCCGG	0.557													A	9784905	G	A	9784905	3	1	228	1	0	0	0	0	1	0	0	0	4799	1145	40	1	1254	1	DRD5	4	9784905	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		9784905	181369371	38	15661											
KLB	152831	broad.mit.edu	37	chr4	39408665	39408665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataggaatacaatgtccaaCgggggattgcaaagatctgt	14	10	11	6	1	1	1	0	0	1	1	2	3	2	3	1	3	3	1	1	3	7	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:39408665C>A	uc003gua.3	+	0	193	c.96C>A	c.(94-96)aaC>aaA	p.N32K	KLB_uc011byj.2_Missense_Mutation_p.N32K	NM_175737	NP_783864	Q86Z14	KLOTB_HUMAN	Homo sapiens klotho beta (KLB), mRNA.	32					carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAATGTCCAACGGGGGATTGC	0.453													A	39408665	C	A	39408665	3	1	228	1	0	0	0	0	1	0	0	0	8390	535	19	4	98	4	KLB	4	39408665	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	29623760	39408665	151745611	39	15662											
FRAS1	80144	broad.mit.edu	37	chr4	79173649	79173649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctgtcatgtggacaccAggagctggcattcatccctg	8	9	11	13	1	2	0	2	0	0	0	3	2	3	2	3	3	1	3	3	3	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:79173649A>G	uc003hlb.2	+	4	853	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	FRAS1_uc003hkw.3_Missense_Mutation_p.Q138R|FRAS1_uc003hky.1_5'UTR|FRAS1_uc003hkz.3_5'Flank	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	138	VWFC 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGACACCAGGAGCTGGCA	0.562													G	79173649	A	G	79173649	3	3	228	1	0	0	0	0	1	0	0	0	6093	188	7	3	431	3	FRAS1	4	79173649	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	39764984	79173649	111980627	40	15663											
CENPE	1062	broad.mit.edu	37	chr4	104117134	104117134	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtataactcccaaatgatcTtctgaacccatcatggtata	13	12	6	10	0	3	2	1	2	2	0	4	2	4	2	2	2	2	2	2	2	6	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:104117134T>C	uc003hxb.1	-	3	390	c.300A>G	c.(298-300)gaA>gaG	p.E100E	CENPE_uc003hxc.1_Silent_p.E100E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	100	Kinesin-motor.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CCAAATGATCTTCTGAACCCA	0.348													C	104117134	T	C	104117134	2	2	228	1	0	0	0	0	0	0	0	1	3260	1606	56	3		3	CENPE	4	104117134	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	24943485	104117134	87037142	41	15664											
PRSS12	8492	broad.mit.edu	37	chr4	119239641	119239641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctcattcccagtgcagcGtacttcatccaacataactg	12	10	6	13	1	2	0	2	0	0	0	4	0	4	0	2	0	6	3	2	0	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:119239641G>A	uc003ica.2	-	4	1089	c.1042C>T	c.(1042-1044)Cgc>Tgc	p.R348C		NM_003619	NP_003610	P56730	NETR_HUMAN	Homo sapiens protease, serine, 12 (neurotrypsin, motopsin) (PRSS12), mRNA.	348	SRCR 2.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						CCAGTGCAGCGTACTTCATCC	0.478													A	119239641	G	A	119239641	3	1	228	1	0	0	0	0	1	0	0	0	12700	1145	40	1	1621	1	PRSS12	4	119239641	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	15122507	119239641	71914635	42	15665											
TLL1	7092	broad.mit.edu	37	chr4	166910622	166910622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttacgcagaacccctttGgaaaccttggacataccaca	13	8	6	14	1	0	1	0	0	0	1	0	3	0	3	5	2	4	1	5	2	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:166910622G>A	uc003irh.2	+	1	906	c.259G>A	c.(259-261)Gga>Aga	p.G87R	TLL1_uc021xud.1_Missense_Mutation_p.G87R|TLL1_uc011cjn.2_Missense_Mutation_p.G87R|TLL1_uc011cjo.2_5'UTR	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	87					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.G87E(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAACCCCTTTGGAAACCTTGG	0.333													A	166910622	G	A	166910622	3	1	228	1	0	0	0	0	1	0	0	0	16045	1349	47	2	265	2	TLL1	4	166910622	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	47670981	166910622	24243654	43	15666											
ENPP6	133121	broad.mit.edu	37	chr4	185018423	185018423	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgaaggccaggaagatgccCcgcatgtccatgagctcgtt	9	7	12	13	3	0	2	0	1	0	1	2	4	1	3	5	2	2	3	5	2	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr4:185018423C>G	uc003iwc.3	-	6	1234	c.1092G>C	c.(1090-1092)cgG>cgC	p.R364R		NM_153343	NP_699174	Q6UWR7	ENPP6_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 6 (ENPP6), mRNA.	364					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GGAAGATGCCCCGCATGTCCA	0.587													G	185018423	C	G	185018423	2	3	228	1	0	0	0	0	0	0	0	1	5175	610	22	4		4	ENPP6	4	185018423	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	18107801	185018423	6135853	44	15667											
PRDM9	56979	broad.mit.edu	37	chr5	23527861	23527861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacaggggagaagccctaCgtctgcagggaggatgagta	12	5	15	9	1	1	2	0	1	1	1	1	5	1	4	1	4	3	2	1	4	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:23527861C>T	uc003jgo.3	+	10	2846	c.2664C>T	c.(2662-2664)taC>taT	p.Y888Y		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	888					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTACGTCTGCAGGG	0.527										HNSCC(3;0.000094)			T	23527861	C	T	23527861	2	4	228	1	0	0	0	0	0	0	0	1	12549	547	19	1		1	PRDM9	5	23527861	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		23527861	157387399	45	15668											
FAM170A	340069	broad.mit.edu	37	chr5	118970068	118970068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgccaggctcacccaccGttgaggacacacccagagcc	9	4	10	18	1	1	2	1	1	0	1	1	3	1	3	6	2	2	2	6	2	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:118970068G>A	uc003ksm.2	+	2	835	c.625G>A	c.(625-627)Gtt>Att	p.V209I	FAM170A_uc003ksl.2_Intron|FAM170A_uc003ksn.3_Missense_Mutation_p.V209I|FAM170A_uc003kso.3_Missense_Mutation_p.V162I	NM_182761	NP_877438	A1A519	F170A_HUMAN	Homo sapiens family with sequence similarity 170, member A (FAM170A), transcript variant 1, mRNA.	209						intracellular	zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						CTCACCCACCGTTGAGGACAC	0.587													A	118970068	G	A	118970068	3	1	228	1	0	0	0	0	1	0	0	0	5534	1145	40	1	635	1	FAM170A	5	118970068	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	95442207	118970068	61945192	46	15669											
PCDHAC2	56141	broad.mit.edu	37	chr5	140215694	140215694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtgggtggcactggtggcGcagtgagagagcttgtgccg	5	8	21	7	2	0	2	0	1	0	1	0	3	0	2	1	5	2	3	1	5	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140215694G>A	uc003lhq.2	+	0	1726	c.1726G>A	c.(1726-1728)Gca>Aca	p.A576T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc011dac.2_Missense_Mutation_p.A576T	NM_018910	NP_061733	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 7 (PCDHA7), transcript variant 1, mRNA.	589	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACTGGTGGCGCAGTGAGAGA	0.662													A	140215694	G	A	140215694	3	1	228	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140215694	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21245626	140215694	40699566	47	15670											
PCDHAC2	56140	broad.mit.edu	37	chr5	140221979	140221979	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacttccttatccttgcCtgtacgtgaagacgctcaat	9	13	7	12	2	1	3	1	2	0	1	3	3	3	3	3	0	2	2	3	0	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140221979C>G	uc003lhs.2	+	0	1073	c.1073C>G	c.(1072-1074)cCt>cGt	p.P358R	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhr.1_Missense_Mutation_p.P358R	NM_018911	NP_061734	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 8 (PCDHA8), transcript variant 1, mRNA.	373	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCCTTGCCTGTACGTGAA	0.502													G	140221979	C	G	140221979	3	3	228	1	0	0	0	0	1	0	0	0	11609	681	24	4		4	PCDHAC2	5	140221979	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	6285	140221979	40693281	48	15671											
PCDHGC5	56113	broad.mit.edu	37	chr5	140720522	140720522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccactgtcacgctcaccGtggccgtggccgacaggatc	6	6	12	17	5	2	0	2	0	0	0	3	2	2	1	5	3	0	1	5	3	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720522G>A	uc003ljk.2	+	0	2169	c.1984G>A	c.(1984-1986)Gtg>Atg	p.V662M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.V662M	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	664	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGCTCACCGTGGCCGTGGC	0.682													A	140720522	G	A	140720522	3	1	228	1	0	0	0	0	1	0	0	0	11647	1145	40	1		1	PCDHGC5	5	140720522	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	498543	140720522	40194738	49	15672											
PCDHGC5	56113	broad.mit.edu	37	chr5	140720558	140720558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatccccgacatcctggccGacctgggcagcctcgagccc	6	5	12	18	3	0	0	0	0	0	0	3	4	2	1	7	3	2	1	7	3	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:140720558G>A	uc003ljk.2	+	0	2205	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Missense_Mutation_p.D674N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	676	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCTGGCCGACCTGGGCAG	0.687													A	140720558	G	A	140720558	3	1	228	1	0	0	0	0	1	0	0	0	11647	1058	37	1		1	PCDHGC5	5	140720558	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	36	140720558	40194702	50	15673											
TBC1D9B	23061	broad.mit.edu	37	chr5	179318430	179318430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctccttgctggcgaaGcagatgtagttgttggagat	7	13	12	9	1	0	2	0	0	0	2	3	4	3	2	3	2	2	5	3	2	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr5:179318430G>A	uc003mlh.3	-	5	1028	c.993C>T	c.(991-993)tgC>tgT	p.C331C	TBC1D9B_uc003mli.3_Silent_p.C331C|TBC1D9B_uc003mlj.3_Silent_p.C331C	NM_198868	NP_942568	Q66K14	TBC9B_HUMAN	Homo sapiens TBC1 domain family, member 9B (with GRAM domain) (TBC1D9B), transcript variant 1, mRNA.	331	GRAM 2.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCTGGCGAAGCAGATGTAGT	0.592													A	179318430	G	A	179318430	2	1	228	1	0	0	0	0	0	0	0	1	15728	963	34	2		2	TBC1D9B	5	179318430	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	38597872	179318430	1596830	51	15674											
DSP	1832	broad.mit.edu	37	chr6	7582878	7582878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcaattccaggcaTctaataggattcaggaatca	12	14	6	9	0	6	0	3	0	3	0	7	2	7	2	1	3	0	1	1	3	4	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:7582878T>C	uc003mxp.1	+	23	5662	c.5383T>C	c.(5383-5385)Tct>Cct	p.S1795P	DSP_uc003mxq.1_Missense_Mutation_p.S1196P|DSP_uc021yle.1_Missense_Mutation_p.S1352P	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1795	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATTCCAGGCATCTAATAGGAT	0.353													C	7582878	T	C	7582878	3	2	228	1	0	0	0	0	1	0	0	0	4820	1435	50	3	5477	3	DSP	6	7582878	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08		7582878	163532189	52	15675											
PHACTR1	221692	broad.mit.edu	37	chr6	13278556	13278556	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaagaggaggctaaccCgaaaggtaggtggttctcca	13	7	13	8	1	2	2	1	0	1	2	3	4	2	3	2	5	1	3	2	5	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:13278556C>G	uc003nah.2	+	11	1877	c.1504C>G	c.(1504-1506)Cga>Gga	p.R502G	PHACTR1_uc010jpc.3_Missense_Mutation_p.R502G|TBC1D7_uc003naj.3_Intron|TBC1D7_uc011dis.2_Intron	NM_030948	NP_112210	Q9C0D0	PHAR1_HUMAN	Homo sapiens phosphatase and actin regulator 1 (PHACTR1), transcript variant 1, mRNA.	502						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAGGCTAACCCGAAAGGTAGG	0.507													G	13278556	C	G	13278556	3	3	228	1	0	0	0	0	1	0	0	0	11886	644	23	4	1542	4	PHACTR1	6	13278556	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5695678	13278556	157836511	53	15676											
SKIV2L	6499	broad.mit.edu	37	chr6	31933760	31933760	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaagggccgagtgccCgagatggcagacctgcaccg	8	5	14	14	3	1	2	0	0	1	2	1	4	1	2	4	2	3	3	4	2	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:31933760C>A	uc003nyn.1	+	17	2561	c.2172C>A	c.(2170-2172)ccC>ccA	p.P724P	SKIV2L_uc011dou.1_Silent_p.P566P|SKIV2L_uc011dov.1_Silent_p.P531P	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	724	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						GCCGAGTGCCCGAGATGGCAG	0.652													A	31933760	C	A	31933760	2	1	228	1	0	0	0	0	0	0	0	1	14453	639	23	4		4	SKIV2L	6	31933760	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	18655204	31933760	139181307	54	15677											
BCLAF1	9774	broad.mit.edu	37	chr6	136597032	136597032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgagtttgacttcaggaCggtgagaatcactcgctatc	9	14	10	8	2	2	3	2	3	0	1	4	5	2	4	0	2	0	2	0	2	2	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:136597032C>T	uc003qgx.1	-	4	1884	c.1631G>A	c.(1630-1632)cGt>cAt	p.R544H	BCLAF1_uc003qgy.1_Missense_Mutation_p.R542H|BCLAF1_uc011edc.1_Non-coding_Transcript|BCLAF1_uc011edd.1_Non-coding_Transcript|BCLAF1_uc011ede.1_Missense_Mutation_p.R542H|BCLAF1_uc003qgw.1_Missense_Mutation_p.R371H	NM_014739	NP_055554	Q9NYF8	BCLF1_HUMAN	Homo sapiens BCL2-associated transcription factor 1 (BCLAF1), transcript variant 1, mRNA.	544					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R544H(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		GACTTCAGGACGGTGAGAATC	0.433													T	136597032	C	T	136597032	3	4	228	1	0	0	0	0	1	0	0	0	1388	536	19	1	1167	1	BCLAF1	6	136597032	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	104663272	136597032	34518035	55	15678											
SYNE1	23345	broad.mit.edu	37	chr6	152685991	152685991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttccctcaccttttacaaCgaatccctgcagacaaaagg	12	10	6	13	1	1	1	1	0	0	1	3	2	3	1	3	1	3	2	3	1	5	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr6:152685991C>T	uc021zhb.1	-	60	10359	c.10136G>A	c.(10135-10137)cGt>cAt	p.R3379H	SYNE1_uc003qot.4_Missense_Mutation_p.R3386H|SYNE1_uc003qou.4_Missense_Mutation_p.R3379H|SYNE1_uc010kja.2_Missense_Mutation_p.R84H	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	3379					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)		CCTTTTACAACGAATCCCTGC	0.468										HNSCC(10;0.0054)			T	152685991	C	T	152685991	3	4	228	1	0	0	0	0	1	0	0	0	15542	536	19	1	16666	1	SYNE1	6	152685991	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	16088959	152685991	18429076	56	15679											
INMT	11185	broad.mit.edu	37	chr7	30795056	30795056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggccgatgggaggagaaGgaggagaagctgcgggcagc	11	2	21	7	3	0	2	0	0	0	2	0	7	0	4	1	6	4	2	1	6	2	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:30795056G>A	uc003tbs.1	+	2	397	c.381G>A	c.(379-381)aaG>aaA	p.K127K	FAM188B_uc010kwe.3_Intron|INMT_uc010kwc.1_Non-coding_Transcript|INMT_uc010kwd.1_Silent_p.K126K	NM_006774	NP_006765	O95050	INMT_HUMAN	Homo sapiens indolethylamine N-methyltransferase (INMT), transcript variant 1, mRNA.	127						cytoplasm	amine N-methyltransferase activity			kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|stomach(1)	23						GGGAGGAGAAGGAGGAGAAGC	0.637													A	30795056	G	A	30795056	2	1	228	1	0	0	0	0	0	0	0	1	7803	991	35	2		2	INMT	7	30795056	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		30795056	128343607	57	15680											
SEPT7	989	broad.mit.edu	37	chr7	35872442	35872442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaggctatgtgggatttgCcaatctcccaaatcaagtat	12	12	9	8	0	2	1	1	1	1	0	3	2	2	2	2	2	1	2	2	2	6	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:35872442C>T	uc010kxc.3	+	1	319	c.95C>T	c.(94-96)gCc>gTc	p.A32V	SEPT7_uc011kat.2_Missense_Mutation_p.A32V|SEPT7_uc011kau.2_Intron|SEPT7_uc011kav.2_5'UTR	NM_001788	NP_001779	Q16181	SEPT7_HUMAN	Homo sapiens septin 7 (SEPT7), transcript variant 1, mRNA.	34					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity	p.V32G(1)|p.V32V(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GTGGGATTTGCCAATCTCCCA	0.363													T	35872442	C	T	35872442	3	4	228	1	0	0	0	0	1	0	0	0	14162	739	26	2	105	2	SEPT7	7	35872442	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5077386	35872442	123266221	58	15681											
COL1A2	1278	broad.mit.edu	37	chr7	94034005	94034005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acattctttttttcttttagGgccctcaaggtttccaagga	8	17	7	9	0	3	0	1	0	2	0	4	1	4	1	2	3	0	1	2	3	3	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:94034005G>T	uc003ung.1	+	8	796	c.325_splice	c.e8-1	p.G109_splice	COL1A2_uc011kib.1_Splice_Site_p.G109_splice|COL1A2_uc022ahm.1_Splice_Site|COL1A2_uc010lfh.1_5'Flank	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	109					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTTCTTTTAGGGCCCTCAAGG	0.403										HNSCC(75;0.22)			T	94034005	G	T	94034005	3	4	228	1	0	0	0	0	1	0	0	0	3709	1246	43	4	355	4	COL1A2	7	94034005	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	58161563	94034005	65104658	59	15682											
MUC17	140453	broad.mit.edu	37	chr7	100675953	100675953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaacaattcctgttgActccaaaacttttgtgacca	12	13	4	12	0	1	2	1	2	0	0	3	2	3	2	3	0	2	1	3	0	4	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:100675953A>G	uc003uxp.1	+	2	1309	c.1256A>G	c.(1255-1257)gAc>gGc	p.D419G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	419	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)					ATTCCTGTTGACTCCAAAACT	0.463													G	100675953	A	G	100675953	3	3	228	1	0	0	0	0	1	0	0	0	10050	275	10	3	1266	3	MUC17	7	100675953	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	6641948	100675953	58462710	60	15683											
MGAM	8972	broad.mit.edu	37	chr7	141736731	141736731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctatacaccctcttcttcCgtgctcacagccgaggggac	8	9	8	16	2	3	0	1	0	2	0	4	2	4	1	4	2	3	1	4	2	2	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:141736731C>T	uc003vwy.3	+	17	2239	c.2185C>T	c.(2185-2187)Cgt>Tgt	p.R729C		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	729	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTCTTCTTCCGTGCTCACAG	0.493													T	141736731	C	T	141736731	3	4	228	1	0	0	0	0	1	0	0	0	9616	652	23	1	2251	1	MGAM	7	141736731	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	41060778	141736731	17401932	61	15684											
ZNF282	8427	broad.mit.edu	37	chr7	148921339	148921339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcatccaccaccgcaGccacaccaaggagcggccct	10	4	7	20	2	2	0	2	0	0	0	3	1	3	1	7	2	2	1	7	2	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr7:148921339G>A	uc003wfm.3	+	7	1721	c.1616G>A	c.(1615-1617)aGc>aAc	p.S539N	ZNF282_uc011kun.1_Splice_Site_p.P454_splice|ZNF282_uc003wfo.3_Missense_Mutation_p.A216T	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	539					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R538C(1)		endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CACCACCGCAGCCACACCAAG	0.682													A	148921339	G	A	148921339	3	1	228	1	0	0	0	0	1	0	0	0	17920	971	34	2	1646	2	ZNF282	7	148921339	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	7184608	148921339	10217324	62	15685											
TEX15	56154	broad.mit.edu	37	chr8	30694497	30694497	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgcttgtggctccccCgcaaaataagtaaaatattg	12	12	7	10	1	0	0	0	0	0	0	1	0	1	0	3	1	1	4	3	1	6	6	rs142941425		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:30694497C>T	uc003xil.3	-	2	8154	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A		NM_031271	NP_112561	Q9BXT5	TEX15_HUMAN	Homo sapiens testis expressed 15 (TEX15), mRNA.	2718										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GTGGCTCCCCCGCAAAATAAG	0.423													T	30694497	C	T	30694497	2	4	228	1	0	0	0	0	0	0	0	1	15879	639	23	1		1	TEX15	8	30694497	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08		30694497	115669525	63	15686											
PXDNL	137902	broad.mit.edu	37	chr8	52387561	52387561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcctctactgttactgaaGcaactgcacgcccatggagt	10	11	8	12	1	1	1	0	1	1	0	2	2	2	2	2	1	5	3	2	1	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:52387561G>A	uc003xqu.4	-	6	766	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	222	LRRCT.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TGTTACTGAAGCAACTGCACG	0.463													A	52387561	G	A	52387561	3	1	228	1	0	0	0	0	1	0	0	0	12936	971	34	2	3794	2	PXDNL	8	52387561	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	21693064	52387561	93976461	64	15687											
TSNARE1	203062	broad.mit.edu	37	chr8	143436006	143436006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactatcattacctaggggcTgacagccttgtctcgaaggt	9	12	10	10	1	2	1	1	1	1	0	3	2	2	1	2	3	3	1	2	3	5	5	rs117184426	byFrequency	TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:143436006T>C	uc003ywj.3	-	0	119	c.80A>G	c.(79-81)cAg>cGg	p.Q27R	TSNARE1_uc011lju.2_Missense_Mutation_p.Q27R|TSNARE1_uc003ywk.3_Missense_Mutation_p.Q27R|TSNARE1_uc003ywl.4_Missense_Mutation_p.Q27R	NM_145003	NP_659440	Q96NA8	TSNA1_HUMAN	Homo sapiens t-SNARE domain containing 1 (TSNARE1), mRNA.	27					vesicle-mediated transport	integral to membrane		p.Q27H(1)		breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					ACCTAGGGGCTGACAGCCTTG	0.602													C	143436006	T	C	143436006	3	2	228	1	0	0	0	0	1	0	0	0	16731	1580	55	3	1509	3	TSNARE1	8	143436006	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	91048445	143436006	2928016	65	15688											
SPATC1	375686	broad.mit.edu	37	chr8	145095019	145095019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccctcaccagcttcCtgaccagtcccattgcggga	7	7	9	18	1	1	1	1	1	0	0	3	2	3	2	6	1	3	2	6	1	0	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr8:145095019C>G	uc011lkw.2	+	1	523	c.421C>G	c.(421-423)Ctg>Gtg	p.L141V	SPATC1_uc011lkx.2_Missense_Mutation_p.L141V	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	141										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CACCAGCTTCCTGACCAGTCC	0.682													G	145095019	C	G	145095019	3	3	228	1	0	0	0	0	1	0	0	0	15113	680	24	4	427	4	SPATC1	8	145095019	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	1659013	145095019	1269003	66	15689											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777020	18777020	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggcccccttcggctaTctcaagatccaccgcctcaa	8	8	8	17	3	2	1	2	0	1	1	5	1	3	1	5	3	0	1	5	3	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:18777020T>C	uc003zne.4	+	18	2945	c.2793T>C	c.(2791-2793)taT>taC	p.Y931Y		NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	931	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTCGGCTATCTCAAGATCC	0.662													C	18777020	T	C	18777020	2	2	228	1	0	0	0	0	0	0	0	1	274	1442	50	3		3	ADAMTSL1	9	18777020	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08		18777020	122436411	67	15690											
NOL6	65083	broad.mit.edu	37	chr9	33467806	33467806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtccccaccattgtcctgCagctctggccagagcttcag	7	10	9	15	0	2	1	1	0	1	1	4	1	4	1	5	1	3	3	5	1	1	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:33467806C>T	uc003zsz.3	-	11	1586	c.1485G>A	c.(1483-1485)ctG>ctA	p.L495L	NOL6_uc003zsy.3_5'Flank|NOL6_uc003zta.3_Silent_p.L495L|NOL6_uc010mjv.3_Silent_p.L492L|NOL6_uc011lob.2_Silent_p.L443L|NOL6_uc003ztb.1_Silent_p.L495L	NM_022917	NP_075068	Q9H6R4	NOL6_HUMAN	Homo sapiens nucleolar protein family 6 (RNA-associated) (NOL6), transcript variant alpha, mRNA.	495					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CATTGTCCTGCAGCTCTGGCC	0.637													T	33467806	C	T	33467806	2	4	228	1	0	0	0	0	0	0	0	1	10601	697	25	2		2	NOL6	9	33467806	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	14690786	33467806	107745625	68	15691											
C9orf139	401563	broad.mit.edu	37	chr9	139929144	139929144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggaggctgtcctgccaCgcctgcgggtgacccggcct	5	6	16	14	3	0	1	0	1	0	0	1	3	1	3	5	5	2	1	5	5	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr9:139929144C>T	uc004ckp.1	+	2	1725	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FUT7_uc004ckq.2_5'Flank	NM_207511	NP_997394	Q6ZV77	CI139_HUMAN	Homo sapiens chromosome 9 open reading frame 139 (C9orf139), mRNA.	71										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)		TGTCCTGCCACGCCTGCGGGT	0.657													T	139929144	C	T	139929144	3	4	228	1	0	0	0	0	1	0	0	0	2485	536	19	1	217	1	C9orf139	9	139929144	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	106461338	139929144	1284287	69	15692											
IDI2	91734	broad.mit.edu	37	chr10	1065753	1065753	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggtgatagattgtcatgaAcacaatgtcctctggagaaa	13	11	11	6	0	2	4	1	2	1	2	3	5	3	4	1	2	1	0	1	2	4	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:1065753A>T	uc001ifv.1	-	4	453	c.388T>A	c.(388-390)Ttc>Atc	p.F130I	IDI2-AS1_uc010qaf.1_5'Flank|IDI2-AS1_uc001ifx.3_5'Flank|IDI2-AS1_uc001ifw.3_5'Flank|IDI2-AS1_uc001ify.3_5'Flank	NM_033261	NP_150286	Q9BXS1	IDI2_HUMAN	Homo sapiens isopentenyl-diphosphate delta isomerase 2 (IDI2), mRNA.	130	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9		Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.143)	Epithelial(11;0.067)|OV - Ovarian serous cystadenocarcinoma(14;0.169)|all cancers(11;0.192)		ATTGTCATGAACACAATGTCC	0.373													T	1065753	A	T	1065753	3	4	228	1	0	0	0	0	1	0	0	0	7558	43	2	5	299	5	IDI2	10	1065753	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08		1065753	134468994	70	15693											
SYT15	83849	broad.mit.edu	37	chr10	46962073	46962073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctctgccgcgggtgtacAtgtaggggcccaccaccact	6	8	12	15	2	1	0	0	0	1	0	2	0	1	0	4	3	2	3	4	3	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:46962073A>G	uc001jea.3	-	7	1316	c.1163T>C	c.(1162-1164)aTg>aCg	p.M388T	SYT15_uc001jdz.2_Intron|SYT15_uc001jeb.3_Missense_Mutation_p.M266T|SYT15_uc010qfp.1_Non-coding_Transcript	NM_031912	NP_114118	Q9BQS2	SYT15_HUMAN	Homo sapiens synaptotagmin XV (SYT15), transcript variant a, mRNA.	388						integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GCGGGTGTACATGTAGGGGCC	0.672													G	46962073	A	G	46962073	3	3	228	1	0	0	0	0	1	0	0	0	15568	217	8	3	160	3	SYT15	10	46962073	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	45896320	46962073	88572674	71	15694											
JMJD1C	221037	broad.mit.edu	37	chr10	64950737	64950737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagctgttgtagtcaGcaaatcccgtaaggttgagc	9	12	10	10	1	1	1	1	1	0	0	3	1	3	1	2	1	3	6	2	1	3	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:64950737G>A	uc001jmn.3	-	16	6508	c.6208C>T	c.(6208-6210)Ctg>Ttg	p.L2070L	JMJD1C_uc001jml.3_Silent_p.L1833L|JMJD1C_uc001jmm.3_Silent_p.L1782L|JMJD1C_uc010qiq.2_Silent_p.L1888L|JMJD1C_uc009xpi.3_Silent_p.L1888L|JMJD1C_uc009xpj.2_Non-coding_Transcript|JMJD1C_uc001jmo.3_5'UTR	NM_032776	NP_116165	Q15652	JHD2C_HUMAN	Homo sapiens jumonji domain containing 1C (JMJD1C), transcript variant 1, mRNA.	2070					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	p.L2070L(1)|p.L1833L(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GTTGTAGTCAGCAAATCCCGT	0.463													A	64950737	G	A	64950737	2	1	228	1	0	0	0	0	0	0	0	1	8008	962	34	2		2	JMJD1C	10	64950737	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	17988664	64950737	70584010	72	15695											
CALHM2	51063	broad.mit.edu	37	chr10	105207008	105207008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtagagtgggaggccCtggttctcacggtacaagta	8	9	15	9	2	1	1	1	0	1	1	2	2	1	2	1	5	1	5	1	5	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr10:105207008C>G	uc001kxa.3	-	3	1484	c.873G>C	c.(871-873)caG>caC	p.Q291H	CALHM2_uc001kxc.3_3'UTR|CALHM2_uc001kxb.3_Missense_Mutation_p.Q291H	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	291						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GTGGGAGGCCCTGGTTCTCAC	0.627													G	105207008	C	G	105207008	3	3	228	1	0	0	0	0	1	0	0	0	2609	680	24	4	102	4	CALHM2	10	105207008	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	40256271	105207008	30327739	73	15696											
MUC2	4583	broad.mit.edu	37	chr11	1093681	1093681	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacccaccactggaagcacgGggccccccacccacacaagc	11	1	8	21	1	0	0	0	0	0	0	0	1	0	1	6	3	2	1	6	3	2	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:1093681G>C	uc001lsx.1	+	32	5515	c.5488_splice	c.e32-1	p.G1830_splice		NM_002457	NP_002448	Q02817	MUC2_HUMAN	Homo sapiens mucin 2, oligomeric mucus/gel-forming (MUC2), mRNA.	1915						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	TGGAAGCACGGGGCCCCCCAC	0.617													C	1093681	G	C	1093681	3	2	228	1	0	0	0	0	1	0	0	0	10051	1246	43	4	5610	4	MUC2	11	1093681	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		1093681	133912835	74	15697											
CHRNA10	57053	broad.mit.edu	37	chr11	3688949	3688949	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacggcgccatcgtggcgCaggaccacgttggtgctggc	5	6	16	14	6	0	0	0	0	0	0	1	1	0	1	2	5	1	4	2	5	0	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:3688949C>T	uc001lyf.3	-	3	480	c.408G>A	c.(406-408)ctG>ctA	p.L136L	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	136					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	CATCGTGGCGCAGGACCACGT	0.731													T	3688949	C	T	3688949	2	4	228	1	0	0	0	0	0	0	0	1	3412	697	25	2		2	CHRNA10	11	3688949	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	2595268	3688949	131317567	75	15698											
QSER1	79832	broad.mit.edu	37	chr11	32979551	32979551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagccaccaccaaagaaaCggaaaaaatggaaagaagaa	22	2	9	8	1	0	4	0	1	0	3	0	6	0	6	3	2	2	0	3	2	8	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:32979551C>T	uc001mty.3	+	7	4768	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	QSER1_uc001mtz.1_Missense_Mutation_p.R1262W|QSER1_uc001mua.3_Missense_Mutation_p.R1006W	NM_001076786	NP_001070254	Q2KHR3	QSER1_HUMAN	Homo sapiens glutamine and serine rich 1 (QSER1), mRNA.	1501										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					ACCAAAGAAACGGAAAAAATG	0.413													T	32979551	C	T	32979551	3	4	228	1	0	0	0	0	1	0	0	0	12970	527	19	1	4523	1	QSER1	11	32979551	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	29290602	32979551	102026965	76	15699											
AGBL2	79841	broad.mit.edu	37	chr11	47726094	47726094	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgtgagtaagtcatattaCcaatatgatggatgttttcc	12	15	8	6	0	1	2	1	2	0	0	2	3	2	3	2	1	1	2	2	1	5	6			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:47726094C>G	uc001ngg.3	-	7	888	c.586_splice	c.e7+1	p.E196_splice	AGBL2_uc010rhq.1_Splice_Site_p.E158_splice|AGBL2_uc001ngh.1_Splice_Site_p.E140_splice	NM_024783	NP_079059	Q5U5Z8	CBPC2_HUMAN	Homo sapiens ATP/GTP binding protein-like 2 (AGBL2), mRNA.	196					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						AGTCATATTACCAATATGATG	0.423													G	47726094	C	G	47726094	5	3	228	1	0	0	0	0	0	0	1	0	376	521	18	4	2173	4	AGBL2	11	47726094	Splice_Site	SNP	C	TCGA-32-2491-01A-01D-1353-08	14746543	47726094	87280422	77	15700											
EML3	256364	broad.mit.edu	37	chr11	62378668	62378668	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgggtcccgctaggctCttcgctggccccctgagggg	4	9	15	13	2	1	2	0	1	1	1	3	2	2	2	3	5	0	3	3	5	1	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:62378668C>A	uc010rly.1	-	2	651	c.343G>T	c.(343-345)Gag>Tag	p.E115*	EML3_uc001ntr.1_Nonsense_Mutation_p.E87*|EML3_uc001nts.1_Nonsense_Mutation_p.E87*|EML3_uc001ntt.1_Missense_Mutation_p.K11N|EML3_uc001ntu.1_Nonsense_Mutation_p.E115*|EML3_uc009yny.1_5'UTR|ROM1_uc001ntv.3_5'Flank			Q32P44	EMAL3_HUMAN	Homo sapiens echinoderm microtubule associated protein like 3 (EML3), mRNA.	115						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						CCGCTAGGCTCTTCGCTGGCC	0.697													A	62378668	C	A	62378668	4	1	228	1	0	0	0	0	0	1	0	0	5139	922	32	4	2427	4	EML3	11	62378668	Nonsense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	14652574	62378668	72627848	78	15701											
CCDC87	55231	broad.mit.edu	37	chr11	66358101	66358101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccttgaagatcactggctCgccaaagattaactctatct	11	11	6	13	1	3	3	1	1	2	2	4	3	3	3	3	1	1	1	3	1	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:66358101C>T	uc001oiq.4	-	0	2454	c.2386G>A	c.(2386-2388)Gag>Aag	p.E796K	CCS_uc001oir.3_5'Flank	NM_018219	NP_060689	Q9NVE4	CCD87_HUMAN	Homo sapiens coiled-coil domain containing 87 (CCDC87), mRNA.	796								p.E796*(2)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						ATCACTGGCTCGCCAAAGATT	0.532													T	66358101	C	T	66358101	3	4	228	1	0	0	0	0	1	0	0	0	2890	893	31	1	167	1	CCDC87	11	66358101	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	3979433	66358101	68648415	79	15702											
FAT3	120114	broad.mit.edu	37	chr11	92535042	92535042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgggacagagacacatccGacgttaatcgccaagtgagc	12	6	11	12	3	0	2	0	1	0	1	2	5	1	3	3	1	1	1	3	1	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:92535042G>A	uc001pdj.4	+	8	8880	c.8863G>A	c.(8863-8865)Gac>Aac	p.D2955N		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	2955	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGACACATCCGACGTTAATCG	0.522										TCGA Ovarian(4;0.039)			A	92535042	G	A	92535042	3	1	228	1	0	0	0	0	1	0	0	0	5740	1058	37	1	8897	1	FAT3	11	92535042	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	26176941	92535042	42471474	80	15703											
HEPHL1	341208	broad.mit.edu	37	chr11	93839268	93839268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggacatacataccatccAttatcatgctgagagctttc	12	12	7	10	0	1	1	1	1	0	1	3	3	2	2	2	1	4	2	2	1	3	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:93839268A>G	uc001pep.2	+	16	3174	c.3017A>G	c.(3016-3018)cAt>cGt	p.H1006R	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	1006	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CATACCATCCATTATCATGCT	0.353													G	93839268	A	G	93839268	3	3	228	1	0	0	0	0	1	0	0	0	7110	217	8	3	3083	3	HEPHL1	11	93839268	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	1304226	93839268	41167248	81	15704											
RNF26	79102	broad.mit.edu	37	chr11	119206267	119206267	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgccatgagcctggtggcTtatgtgatcaacagcctggt	8	12	12	9	0	1	2	1	2	0	0	1	2	1	2	3	3	4	1	3	3	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr11:119206267T>A	uc001pwh.3	+	0	1058	c.435T>A	c.(433-435)gcT>gcA	p.A145A		NM_032015	NP_114404	Q9BY78	RNF26_HUMAN	Homo sapiens ring finger protein 26 (RNF26), mRNA.	145	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCTGGTGGCTTATGTGATCA	0.592													A	119206267	T	A	119206267	2	1	228	1	0	0	0	0	0	0	0	1	13577	1596	56	5		5	RNF26	11	119206267	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	25366999	119206267	15800249	82	15705											
KIAA0528	9847	broad.mit.edu	37	chr12	22602814	22602815	+	Frame_Shift_Del	DEL	AA	AA	-																															gcatcaccacttacatttatAagacactgtgcctataagaa																										TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:22602814_22602815delAA	uc010sit.2	-	27	3269_3270	c.3041_3042delTT	c.(3040-3042)cttfs	p.L1014fs	KIAA0528_uc010sir.2_Frame_Shift_Del_p.L817fs|KIAA0528_uc010sis.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfq.3_Frame_Shift_Del_p.L961fs|KIAA0528_uc010siu.2_Frame_Shift_Del_p.L1012fs|KIAA0528_uc001rfr.3_Frame_Shift_Del_p.L1003fs	NM_014802	NP_055617	Q86YS7	K0528_HUMAN	Homo sapiens KIAA0528 (KIAA0528), mRNA.	961							protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TTACATTTATAAGACACTGTGC	0.411													-	22602815	AA	-	22602814	7	5	228	1	0	1	0	1	0	0	0	0	8240	349	13	0	123	0	KIAA0528	12	22602814	Frame_Shift_Del	DEL	AA	TCGA-32-2491-01A-01D-1353-08		22602814	111249081	83	15706											
C12orf45	121053	broad.mit.edu	37	chr12	105380235	105380235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacggcgggaagcgaCggccgcggaggtgacggacg	7	3	20	11	8	0	2	0	2	0	0	0	6	0	5	1	6	2	1	1	6	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:105380235C>G	uc001tlb.3	+	0	138	c.105C>G	c.(103-105)gaC>gaG	p.D35E		NM_152318	NP_689531	Q8N5I9	CL045_HUMAN	Homo sapiens chromosome 12 open reading frame 45 (C12orf45), mRNA.	35										large_intestine(1)|lung(2)	3						CGGGAAGCGACGGCCGCGGAG	0.706													G	105380235	C	G	105380235	3	3	228	1	0	0	0	0	1	0	0	0	1704	535	19	4	107	4	C12orf45	12	105380235	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	82777421	105380235	28471660	84	15707											
HVCN1	84329	broad.mit.edu	37	chr12	111099056	111099056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccaggggcaggggcaacGtcaggggctgcagctctgcc	6	4	19	12	1	2	0	1	0	1	0	2	0	2	0	2	7	4	5	2	7	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr12:111099056G>A	uc001trs.1	-	3	384	c.219C>T	c.(217-219)gaC>gaT	p.D73D	HVCN1_uc001trq.1_Silent_p.D73D|HVCN1_uc001trt.1_Silent_p.D73D|HVCN1_uc010syd.1_Silent_p.D53D	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	73					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity	p.P72P(1)		NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						CAGGGGCAACGTCAGGGGCTG	0.617													A	111099056	G	A	111099056	2	1	228	1	0	0	0	0	0	0	0	1	7520	1136	40	1		1	HVCN1	12	111099056	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	5718821	111099056	22752839	85	15708											
RB1	5925	broad.mit.edu	37	chr13	48955550	48955550	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttagaacgatgtgaacatCgaatcatggaatcccttgca	14	11	8	8	2	1	2	1	1	0	1	3	5	2	3	1	1	3	1	1	1	5	3	rs121913304		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:48955550C>T	uc001vcb.3	+	16	1832	c.1666C>T	c.(1666-1668)Cga>Tga	p.R556*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	556	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.R556*(10)|p.?(8)|p.C553fs*53(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGTGAACATCGAATCATGGA	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	48955550	C	T	48955550	4	4	228	1	0	0	0	0	0	1	0	0	13186	876	31	1	1732	1	RB1	13	48955550	Nonsense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		48955550	66214328	86	15709											
OLFM4	10562	broad.mit.edu	37	chr13	53624151	53624151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatcagcaaaccgtctgtgGttcagctcaactggagaggg	11	8	12	10	1	4	1	3	0	1	1	4	2	4	1	1	3	4	3	1	3	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:53624151G>C	uc001vhl.3	+	4	874	c.778G>C	c.(778-780)Gtt>Ctt	p.V260L	OLFM4_uc001vhk.2_Intron	NM_006418	NP_006409	Q6UX06	OLFM4_HUMAN	Homo sapiens olfactomedin 4 (OLFM4), mRNA.	260	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACCGTCTGTGGTTCAGCTCAA	0.448													C	53624151	G	C	53624151	3	2	228	1	0	0	0	0	1	0	0	0	10931	1261	44	4	796	4	OLFM4	13	53624151	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4668601	53624151	61545727	87	15710											
DCT	1638	broad.mit.edu	37	chr13	95121065	95121065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcataaacactgcagttgGcaaactgcggctgggttcca	12	9	10	10	1	1	0	1	0	0	0	2	0	2	0	1	3	4	5	1	3	4	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr13:95121065G>A	uc010afh.3	-	1	957	c.530C>T	c.(529-531)gCc>gTc	p.A177V	DCT_uc001vlv.4_Missense_Mutation_p.A177V	NM_001129889	NP_001123361	P40126	TYRP2_HUMAN	Homo sapiens dopachrome tautomerase (dopachrome delta-isomerase, tyrosine-related protein 2) (DCT), transcript variant 2, mRNA.	177					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		ACTGCAGTTGGCAAACTGCGG	0.458													A	95121065	G	A	95121065	3	1	228	1	0	0	0	0	1	0	0	0	4338	1203	42	2	1164	2	DCT	13	95121065	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	41496914	95121065	20048813	88	15711											
AKAP6	9472	broad.mit.edu	37	chr14	33014783	33014783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgacaaaggtggatgtgaGgaagacaatgcttctgcagt	13	8	14	6	1	1	2	0	1	1	1	1	6	1	4	0	3	2	2	0	3	3	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:33014783G>T	uc001wrq.3	+	3	1094	c.924G>T	c.(922-924)gaG>gaT	p.E308D	AKAP6_uc010aml.3_Missense_Mutation_p.E305D	NM_004274	NP_004265	Q13023	AKAP6_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 6 (AKAP6), mRNA.	308					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTGGATGTGAGGAAGACAATG	0.488													T	33014783	G	T	33014783	3	4	228	1	0	0	0	0	1	0	0	0	455	991	35	4	934	4	AKAP6	14	33014783	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		33014783	74334757	89	15712											
SERPINA6	866	broad.mit.edu	37	chr14	94776220	94776220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctggcaggggagctccGagtcatgaaggtaactgatg	10	7	15	9	1	1	2	1	2	0	0	2	4	2	3	2	4	3	4	2	4	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94776220G>A	uc001ycv.3	-	2	841	c.737C>T	c.(736-738)tCg>tTg	p.S246L	SERPINA6_uc010auv.3_Non-coding_Transcript	NM_001756	NP_001747	P08185	CBG_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6 (SERPINA6), mRNA.	246			S -> A (in dbSNP:rs2228541).		regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	GGGGAGCTCCGAGTCATGAAG	0.542													A	94776220	G	A	94776220	3	1	228	1	0	0	0	0	1	0	0	0	14186	1059	37	1	492	1	SERPINA6	14	94776220	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	61761437	94776220	12573320	90	15713											
SERPINA9	327657	broad.mit.edu	37	chr14	94935885	94935885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgaggttgaagcccAggccctggagaatctgggtc	7	10	16	8	0	1	3	0	2	1	1	2	4	1	3	2	4	1	1	2	4	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr14:94935885A>G	uc001ydf.3	-	1	508	c.347T>C	c.(346-348)cTg>cCg	p.L116P	SERPINA9_uc001yde.3_Intron|SERPINA9_uc010avc.3_Intron|SERPINA9_uc001ydg.3_Missense_Mutation_p.L80P|SERPINA9_uc001ydh.1_Missense_Mutation_p.L116P|SERPINA9_uc001ydi.1_Missense_Mutation_p.L80P	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	98					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		GTTGAAGCCCAGGCCCTGGAG	0.567													G	94935885	A	G	94935885	3	3	228	1	0	0	0	0	1	0	0	0	14188	188	7	3	976	3	SERPINA9	14	94935885	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	159665	94935885	12413655	91	15714											
PCSK6	5046	broad.mit.edu	37	chr15	101933603	101933603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattcccagatgcccagacGaaaatggagcccaggccctg	11	5	10	15	1	0	2	0	0	0	2	1	4	1	3	5	2	2	0	5	2	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr15:101933603G>A	uc002bxa.2	-	8	1334	c.1020C>T	c.(1018-1020)ttC>ttT	p.F340F	PCSK6_uc010bpd.3_Silent_p.F211F|PCSK6_uc002bwy.3_Silent_p.F340F|PCSK6_uc010bpe.3_Silent_p.F337F|PCSK6_uc002bxb.2_Silent_p.F340F|PCSK6_uc002bxc.1_Silent_p.F340F|PCSK6_uc002bxd.1_Silent_p.F340F|PCSK6_uc002bxe.3_Silent_p.F340F|PCSK6_uc002bxg.1_Silent_p.F340F	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	341	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.F340F(4)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGCCCAGACGAAAATGGAGC	0.627													A	101933603	G	A	101933603	2	1	228	1	0	0	0	0	0	0	0	1	11680	1049	37	1		1	PCSK6	15	101933603	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		101933603	597789	92	15715											
ITGAD	3681	broad.mit.edu	37	chr16	31422196	31422196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccgaagtcacagggacGcaggttgggcgtgacaggag	11	4	18	8	3	1	1	1	1	0	0	1	4	1	3	1	5	0	2	1	5	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:31422196G>A	uc010cap.1	+	11	1402	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	ITGAD_uc002ebv.1_Silent_p.T451T	NM_005353	NP_005344	Q13349	ITAD_HUMAN	Homo sapiens integrin, alpha D (ITGAD), mRNA.	451					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCACAGGGACGCAGGTTGGGC	0.657													A	31422196	G	A	31422196	2	1	228	1	0	0	0	0	0	0	0	1	7942	1074	38	1		1	ITGAD	16	31422196	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08		31422196	58932557	93	15716											
COQ9	57017	broad.mit.edu	37	chr16	57492187	57492187	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcatgctccctcacaaCatcccgtccagcctgagcct	8	9	5	19	1	2	1	2	1	0	0	6	1	6	1	6	0	4	1	6	0	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr16:57492187C>G	uc002elq.3	+	5	717	c.636C>G	c.(634-636)aaC>aaG	p.N212K	COQ9_uc002els.3_Missense_Mutation_p.N5K	NM_020312	NP_064708	O75208	COQ9_HUMAN	Homo sapiens coenzyme Q9 homolog (S. cerevisiae) (COQ9), nuclear gene encoding mitochondrial protein, mRNA.	212					ubiquinone biosynthetic process	mitochondrion				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TCCCTCACAACATCCCGTCCA	0.562													G	57492187	C	G	57492187	3	3	228	1	0	0	0	0	1	0	0	0	3782	477	17	4	658	4	COQ9	16	57492187	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	26069991	57492187	32862566	94	15717											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7577568C>A	uc002gim.2	-	6	907	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_uc002gig.1_Missense_Mutation_p.C238F|TP53_uc002gih.3_Missense_Mutation_p.C238F|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.C106F|TP53_uc010cnf.1_Missense_Mutation_p.C106F|TP53_uc002gii.1_Missense_Mutation_p.C106F|TP53_uc010cni.1_Missense_Mutation_p.C238F|TP53_uc010cnh.1_Missense_Mutation_p.C238F|TP53_uc002gij.2_Missense_Mutation_p.C238F|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.C145F|TP53_uc002gio.2_Missense_Mutation_p.C106F|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(122)|p.M237I(109)|p.C238F(82)|p.C238S(28)|p.C238R(14)|p.M237K(9)|p.0?(8)|p.M237_N239delMCN(6)|p.M237V(6)|p.?(5)|p.C145Y(5)|p.C145F(5)|p.C238*(4)|p.M237fs*10(4)|p.C238del(3)|p.M237R(3)|p.M237L(3)|p.Y236_M243delYMCNSSCM(2)|p.C238_M246delCNSSCMGGM(2)|p.C238W(2)|p.C238fs*21(2)|p.C238G(2)|p.M237fs*1(2)|p.H233_C242del10(2)|p.M237T(2)|p.C238_N239insX(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.C238fs*9(1)|p.Y236_M237>*L(1)|p.M144_N146delMCN(1)|p.C238C(1)|p.Y236_M237delYM(1)|p.C145S(1)|p.H233fs*6(1)|p.Y236_M237insXX(1)|p.N239_C242del(1)|p.M237_C238insX(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)		GGAACTGTTACACATGTAGTT	0.572		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)			A	7577568	C	A	7577568	3	1	228	1	0	0	0	0	1	0	0	0	16482	478	17	4	577	4	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		7577568	73617642	95	15718											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:7578265A>T	uc002gim.2	-	5	778	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_uc002gig.1_Missense_Mutation_p.I195N|TP53_uc002gih.3_Missense_Mutation_p.I195N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I63N|TP53_uc010cnf.1_Missense_Mutation_p.I63N|TP53_uc002gii.1_Missense_Mutation_p.I63N|TP53_uc010cni.1_Missense_Mutation_p.I195N|TP53_uc010cnh.1_Missense_Mutation_p.I195N|TP53_uc002gij.2_Missense_Mutation_p.I195N|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.I102N|TP53_uc002gio.2_Missense_Mutation_p.I63N|TP53_uc010vug.2_Missense_Mutation_p.I156N|DL476358_uc021tph.1_Splice_Site	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(136)|p.L194R(37)|p.I195N(24)|p.L194F(18)|p.I195F(18)|p.I195S(16)|p.I195fs*14(9)|p.L194P(8)|p.A189_V197delAPPQHLIRV(8)|p.0?(8)|p.L194H(6)|p.?(5)|p.P191_E198>Q(4)|p.L194L(4)|p.I195fs*52(4)|p.H193_I195delHLI(2)|p.I195fs*12(2)|p.I102S(2)|p.I195fs*50(2)|p.L194fs*15(2)|p.I102T(2)|p.I195_G199delIRVEG(2)|p.I63T(2)|p.I63S(2)|p.H193_I195>AP(2)|p.K164_P219del(1)|p.L194V(1)|p.L194fs*14(1)|p.P191fs*6(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195M(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.L194I(1)|p.I195L(1)|p.I63fs*14(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			T	7578265	A	T	7578265	3	4	228	1	0	0	0	0	1	0	0	0	16482	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	697	7578265	73616945	96	15719											
RAI1	10743	broad.mit.edu	37	chr17	17697820	17697820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccgactacctgagcGgctccgaggacccactggag	9	4	15	13	3	0	1	0	1	0	0	1	6	1	4	4	5	2	1	4	5	1	1	rs147708297		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:17697820G>A	uc002grm.3	+	2	2027	c.1558G>A	c.(1558-1560)Ggc>Agc	p.G520S	RAI1_uc002grn.1_Missense_Mutation_p.G520S	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	520						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CTACCTGAGCGGCTCCGAGGA	0.687													A	17697820	G	A	17697820	3	1	228	1	0	0	0	0	1	0	0	0	13095	1116	39	1	1560	1	RAI1	17	17697820	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10119555	17697820	63497390	97	15720											
SLC13A2	9058	broad.mit.edu	37	chr17	26818573	26818573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgctactccgccagcatCgggggcatcgccacgctgac	6	7	13	15	4	0	1	0	1	0	0	3	1	1	1	3	2	3	4	3	2	1	1	rs146824818		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:26818573C>T	uc010wan.2	+	4	907	c.840C>T	c.(838-840)atC>atT	p.I280I	SLC13A2_uc010wal.1_Silent_p.I188I|SLC13A2_uc010wam.2_Silent_p.I187I|SLC13A2_uc002hbh.3_Silent_p.I231I|SLC13A2_uc010wao.2_Silent_p.I188I|SLC13A2_uc002hbi.3_Silent_p.I160I	NM_001145975	NP_001139447	Q13183	S13A2_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2 (SLC13A2), transcript variant 1, mRNA.	231						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCGCCAGCATCGGGGGCATCG	0.632													T	26818573	C	T	26818573	2	4	228	1	0	0	0	0	0	0	0	1	14486	874	31	1		1	SLC13A2	17	26818573	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	9120753	26818573	54376637	98	15721											
VAT1	10493	broad.mit.edu	37	chr17	41168349	41168349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaagggccagactgagtcaAtgtggggcttgatgtggccc	8	8	16	9	1	1	3	1	2	0	1	1	4	1	3	2	4	0	1	2	4	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:41168349A>G	uc002icm.1	-	4	1193	c.1073T>C	c.(1072-1074)aTt>aCt	p.I358T	VAT1_uc010cyw.1_Missense_Mutation_p.I224T|VAT1_uc010whk.1_Missense_Mutation_p.I290T	NM_006373	NP_006364	Q99536	VAT1_HUMAN	Homo sapiens vesicle amine transport protein 1 homolog (T. californica) (VAT1), mRNA.	358						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GACTGAGTCAATGTGGGGCTT	0.607													G	41168349	A	G	41168349	3	3	228	1	0	0	0	0	1	0	0	0	17231	101	4	3	116	3	VAT1	17	41168349	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	14349776	41168349	40026861	99	15722											
GRIN2C	2905	broad.mit.edu	37	chr17	72851132	72851132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagctgctaaacaccaCagccaccgtcatgccctgct	9	7	7	18	1	1	1	1	1	0	0	1	1	1	1	5	0	6	3	5	0	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr17:72851132C>T	uc002jlt.1	-	1	256	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.V34M|GRIN2C_uc002jlv.1_Missense_Mutation_p.V34M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	34					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	CTAAACACCACAGCCACCGTC	0.706													T	72851132	C	T	72851132	3	4	228	1	0	0	0	0	1	0	0	0	6836	478	17	2	3649	2	GRIN2C	17	72851132	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	31682783	72851132	8344078	100	15723											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661249	8661249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaatgtcctcattgaCgctgcagcttctctcgcgct	6	11	9	15	3	2	1	1	1	1	0	5	1	3	1	2	1	2	4	2	1	1	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:8661249C>T	uc002mkj.1	-	9	1406	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	ADAMTS10_uc002mkk.1_Missense_Mutation_p.V10I	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	378	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						TCCTCATTGACGCTGCAGCTT	0.662													T	8661249	C	T	8661249	3	4	228	1	0	0	0	0	1	0	0	0	256	536	19	1	2247	1	ADAMTS10	19	8661249	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		8661249	50467734	101	15724											
MUC16	94025	broad.mit.edu	37	chr19	9050207	9050207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtcttcagagctgtggtgGtggtctccattctttttgtc	3	18	12	8	0	4	1	1	0	3	1	6	1	4	1	1	4	1	1	1	4	0	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:9050207G>A	uc002mkp.3	-	4	31628	c.31424C>T	c.(31423-31425)aCc>aTc	p.T10475I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10477	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						AGCTGTGGTGGTGGTCTCCAT	0.483													A	9050207	G	A	9050207	3	1	228	1	0	0	0	0	1	0	0	0	10049	1261	44	2	12419	2	MUC16	19	9050207	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	388958	9050207	50078776	102	15725											
RAVER1	125950	broad.mit.edu	37	chr19	10434234	10434234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagctgcccatcctggccGcacgccagctgccggaggaa	7	6	12	16	3	1	0	1	0	0	0	2	2	2	2	5	3	4	3	5	3	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:10434234G>A	uc002moa.3	-	3	896	c.816C>T	c.(814-816)tgC>tgT	p.C272C		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	255	RRM 3.					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CATCCTGGCCGCACGCCAGCT	0.667													A	10434234	G	A	10434234	2	1	228	1	0	0	0	0	0	0	0	1	13182	1079	38	1		1	RAVER1	19	10434234	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	1384027	10434234	48694749	103	15726											
CYP4F8	11283	broad.mit.edu	37	chr19	15739191	15739191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccccaatccctacattcGcccgcggctgcacccaggac	8	6	7	20	3	0	0	0	0	0	0	3	1	2	1	5	2	2	2	5	2	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15739191G>A	uc002nbi.3	+	10	1256	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	CYP4F8_uc010xoj.2_Missense_Mutation_p.A211T	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	399					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						CCCTACATTCGCCCGCGGCTG	0.637													A	15739191	G	A	15739191	3	1	228	1	0	0	0	0	1	0	0	0	4224	1087	38	1	1228	1	CYP4F8	19	15739191	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	5304957	15739191	43389792	104	15727											
OR10H1	26539	broad.mit.edu	37	chr19	15918727	15918727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccatgatgagcaggttgcCcagcagcgtgaacaggtaca	11	6	14	10	1	0	3	0	3	0	0	0	3	0	3	2	3	6	4	2	3	2	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:15918727C>A	uc002nbq.2	-	0	210	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C		NM_013940	NP_039228	Q9Y4A9	O10H1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 1 (OR10H1), mRNA.	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						AGCAGGTTGCCCAGCAGCGTG	0.597													A	15918727	C	A	15918727	3	1	228	1	0	0	0	0	1	0	0	0	10981	623	22	4	839	4	OR10H1	19	15918727	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	179536	15918727	43210256	105	15728											
EPS15L1	58513	broad.mit.edu	37	chr19	16515514	16515514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgtttctgagcctcgAgctcctgcaaactgcttgtt	6	14	8	13	1	1	1	0	1	1	0	4	2	3	1	3	0	5	5	3	0	1	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:16515514A>G	uc002ndx.3	-	13	1319	c.1313T>C	c.(1312-1314)cTc>cCc	p.L438P	EPS15L1_uc002ndy.3_Non-coding_Transcript|EPS15L1_uc010xpe.1_Missense_Mutation_p.L328P|EPS15L1_uc002ndz.1_Missense_Mutation_p.L438P|EPS15L1_uc010xpf.1_Missense_Mutation_p.L341P|EPS15L1_uc002nea.1_Missense_Mutation_p.L438P|EPS15L1_uc010eah.1_Missense_Mutation_p.L438P|EPS15L1_uc002neb.1_Missense_Mutation_p.L284P|EPS15L1_uc002nec.1_Missense_Mutation_p.L438P	NM_021235	NP_067058	Q9UBC2	EP15R_HUMAN	Homo sapiens epidermal growth factor receptor pathway substrate 15-like 1 (EPS15L1), mRNA.	438					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						CTGAGCCTCGAGCTCCTGCAA	0.542													G	16515514	A	G	16515514	3	3	228	1	0	0	0	0	1	0	0	0	5234	304	11	3	1321	3	EPS15L1	19	16515514	Missense_Mutation	SNP	A	TCGA-32-2491-01A-01D-1353-08	596787	16515514	42613469	106	15729											
PRX	57716	broad.mit.edu	37	chr19	40901148	40901148	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagccacccctggcactagTtctgctgcctcagtgtcccg	5	10	9	17	1	3	0	2	0	1	0	4	0	4	0	5	1	3	3	5	1	1	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:40901148T>C	uc002onr.3	-	6	3380	c.3111A>G	c.(3109-3111)gaA>gaG	p.E1037E	PRX_uc002onq.3_Silent_p.E898E|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	1037					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.E1037Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGGCACTAGTTCTGCTGCCT	0.627													C	40901148	T	C	40901148	2	2	228	1	0	0	0	0	0	0	0	1	12727	1722	60	3		3	PRX	19	40901148	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	24385634	40901148	18227835	107	15730											
C19orf54	284325	broad.mit.edu	37	chr19	41248416	41248416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccacccacgggcaccacGtacacccggccgtcagtggc	8	3	10	20	4	1	0	1	0	0	0	1	0	1	0	6	3	1	2	6	3	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:41248416G>A	uc002oou.1	-	5	1098	c.978C>T	c.(976-978)taC>taT	p.Y326Y	C19orf54_uc002oow.1_Silent_p.Y154Y|C19orf54_uc002oox.1_Intron|C19orf54_uc002ooy.1_Intron|C19orf54_uc010xvs.1_Intron	NM_198476	NP_940878	Q5BKX5	CS054_HUMAN	Homo sapiens chromosome 19 open reading frame 54 (C19orf54), mRNA.	326										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CGGGCACCACGTACACCCGGC	0.662													A	41248416	G	A	41248416	2	1	228	1	0	0	0	0	0	0	0	1	1955	1140	40	1		1	C19orf54	19	41248416	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	347268	41248416	17880567	108	15731											
FOXA3	3171	broad.mit.edu	37	chr19	46375547	46375547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgggtacggggcccCgggtcctgggctggtgcacg	3	6	18	14	4	0	0	0	0	0	0	2	0	2	0	4	6	3	4	4	6	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:46375547C>T	uc002pdr.3	+	1	481	c.284C>T	c.(283-285)cCg>cTg	p.P95L		NM_004497	NP_004488	P55318	FOXA3_HUMAN	Homo sapiens forkhead box A3 (FOXA3), mRNA.	95					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		TACGGGGCCCCGGGTCCTGGG	0.682													T	46375547	C	T	46375547	3	4	228	1	0	0	0	0	1	0	0	0	6040	652	23	1	290	1	FOXA3	19	46375547	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	5127131	46375547	12753436	109	15732											
MYH14	79784	broad.mit.edu	37	chr19	50713834	50713834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaggcggcggcgctgcGggacgaaggcgaggaggagg	7	3	23	8	7	0	0	0	0	0	0	1	6	0	3	0	8	1	2	0	8	1	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:50713834G>A	uc010enu.1	+	1	259	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	MYH14_uc002prq.1_Missense_Mutation_p.R71Q|MYH14_uc002prr.1_Missense_Mutation_p.R71Q	NM_001145809	NP_001139281	Q7Z406	MYH14_HUMAN	Homo sapiens myosin, heavy chain 14, non-muscle (MYH14), transcript variant 3, mRNA.	71	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GCGGCGCTGCGGGACGAAGGC	0.736													A	50713834	G	A	50713834	3	1	228	1	0	0	0	0	1	0	0	0	10109	1116	39	1	214	1	MYH14	19	50713834	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	4338287	50713834	8415149	110	15733											
ZNF347	84671	broad.mit.edu	37	chr19	53644386	53644386	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttgtaaggtttttcTccagtatggatgacctgatg	9	17	9	6	0	1	2	0	2	1	0	2	3	1	3	2	2	1	3	2	2	3	6			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53644386T>A	uc002qbc.2	-	4	2125	c.1698A>T	c.(1696-1698)ggA>ggT	p.G566G	ZNF347_uc002qbb.2_Silent_p.G565G|ZNF347_uc010eql.2_Silent_p.G566G	NM_001172674	NP_001166146	Q96SE7	ZN347_HUMAN	Homo sapiens zinc finger protein 347 (ZNF347), transcript variant 1, mRNA.	565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E566*(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAGGTTTTTCTCCAGTATGGA	0.408													A	53644386	T	A	53644386	2	1	228	1	0	0	0	0	0	0	0	1	17962	1538	54	5		5	ZNF347	19	53644386	Silent	SNP	T	TCGA-32-2491-01A-01D-1353-08	2930552	53644386	5484597	111	15734											
BIRC8	112401	broad.mit.edu	37	chr19	53793037	53793037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggaataaaaacaacagcGatatgtctgtccatgcagat	17	8	8	8	1	1	1	0	0	1	1	2	3	2	2	1	1	4	1	1	1	7	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr19:53793037G>A	uc002qbk.3	-	0	1839	c.591C>T	c.(589-591)atC>atT	p.I197I		NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.	197					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAACAACAGCGATATGTCTGT	0.443													A	53793037	G	A	53793037	2	1	228	1	0	0	0	0	0	0	0	1	1446	1048	37	1		1	BIRC8	19	53793037	Silent	SNP	G	TCGA-32-2491-01A-01D-1353-08	148651	53793037	5335946	112	15735											
C20orf118	140711	broad.mit.edu	37	chr20	35507541	35507541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagagcctgtaccggcGgatggagggctgcagcgggc	6	5	18	12	3	0	1	0	0	0	1	0	3	0	3	3	5	5	4	3	5	1	1	rs147682253		TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:35507541G>A	uc002xgg.1	+	2	295	c.287G>A	c.(286-288)cGg>cAg	p.R96Q	C20orf118_uc021wcz.1_Missense_Mutation_p.R96Q	NM_080628	NP_542195	A0PJX2	CT118_HUMAN	Homo sapiens chromosome 20 open reading frame 118 (C20orf118), mRNA.	96	TLD.									kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	9		Myeloproliferative disorder(115;0.00874)				CTGTACCGGCGGATGGAGGGC	0.667													A	35507541	G	A	35507541	3	1	228	1	0	0	0	0	1	0	0	0	2105	1116	39	1	297	1	C20orf118	20	35507541	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		35507541	27517979	113	15736											
NEURL2	140825	broad.mit.edu	37	chr20	44519558	44519558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgcacccgatggaagcGggtgggagggggctccgggc	6	4	20	11	4	0	0	0	0	0	0	1	3	1	2	3	6	2	2	3	6	1	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:44519558G>A	uc002xqg.1	-	0	344	c.73C>T	c.(73-75)Cgc>Tgc	p.R25C	CTSA_uc002xqh.3_5'Flank|CTSA_uc002xqj.4_5'Flank|CTSA_uc010zxi.2_5'Flank|CTSA_uc002xqi.3_5'Flank	NM_080749	NP_542787	Q9BR09	NEUL2_HUMAN	Homo sapiens neuralized homolog 2 (Drosophila) (NEURL2), mRNA.	25	NHR.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CGATGGAAGCGGGTGGGAGGG	0.711													A	44519558	G	A	44519558	3	1	228	1	0	0	0	0	1	0	0	0	10422	1116	39	1	792	1	NEURL2	20	44519558	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	9012017	44519558	18505962	114	15737											
NFATC2	4773	broad.mit.edu	37	chr20	50140360	50140360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaccccggccaggggCggctgctccaccaggaggcc	5	2	16	18	3	0	0	0	0	0	0	1	1	1	1	7	7	1	2	7	7	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:50140360C>T	uc002xwd.3	-	1	640	c.420G>A	c.(418-420)ccG>ccA	p.P140P	NFATC2_uc002xwc.3_Silent_p.P140P|NFATC2_uc010zyv.2_Intron|NFATC2_uc010zyw.2_Intron|NFATC2_uc002xwe.3_Silent_p.P120P|NFATC2_uc010zyx.2_Silent_p.P120P|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	140	Trans-activation domain A (TAD-A).				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGCCAGGGGCGGCTGCTCCA	0.721													T	50140360	C	T	50140360	2	4	228	1	0	0	0	0	0	0	0	1	10438	755	27	1		1	NFATC2	20	50140360	Silent	SNP	C	TCGA-32-2491-01A-01D-1353-08	5620802	50140360	12885160	115	15738											
LAMA5	3911	broad.mit.edu	37	chr20	60912694	60912694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcacacatgtgtcacaccGcagccccgtcacacggggcc	8	4	12	17	3	2	0	2	0	0	0	2	0	2	0	4	3	1	2	4	3	0	0			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr20:60912694G>A	uc002ycq.3	-	15	2183	c.2116C>T	c.(2116-2118)Cgg>Tgg	p.R706W	LAMA5_uc021wfw.1_Missense_Mutation_p.R706W	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	706	Laminin EGF-like 8.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTCACACCGCAGCCCCGTC	0.667													A	60912694	G	A	60912694	3	1	228	1	0	0	0	0	1	0	0	0	8668	1086	38	1	9231	1	LAMA5	20	60912694	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	10772334	60912694	2112826	116	15739											
APP	351	broad.mit.edu	37	chr21	27369692	27369692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacgtttaacaggatctcggGcaagaggttcctgggtagtc	9	11	13	8	2	1	1	0	0	1	1	4	2	2	2	1	4	2	4	1	4	4	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr21:27369692G>A	uc002ylz.3	-	7	1273	c.1073C>T	c.(1072-1074)gCc>gTc	p.A358V	APP_uc010glk.3_Intron|APP_uc002yma.3_Intron|APP_uc011ach.2_Missense_Mutation_p.A302V|APP_uc021whz.1_Missense_Mutation_p.A358V|APP_uc021wia.1_Intron|APP_uc002ymb.3_Intron|APP_uc010glj.3_Intron|APP_uc021wib.1_Intron|APP_uc011aci.2_Intron	NM_000484	NP_000475	P05067	A4_HUMAN	Homo sapiens amyloid beta (A4) precursor protein (APP), transcript variant 1, mRNA.	358					adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				AGGATCTCGGGCAAGAGGTTC	0.438													A	27369692	G	A	27369692	3	1	228	1	0	0	0	0	1	0	0	0	818	1203	42	2	1283	2	APP	21	27369692	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		27369692	20760203	117	15740											
TOP3B	8940	broad.mit.edu	37	chr22	22317253	22317253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtactcatagagccgcCacgcgtcaccccctgcaaca	10	7	8	16	3	2	2	2	1	0	1	2	2	2	2	4	0	4	2	4	0	3	2			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:22317253C>A	uc002zvs.3	-	11	1652	c.1217G>T	c.(1216-1218)tGg>tTg	p.W406L	TOP3B_uc010gtm.2_5'UTR|TOP3B_uc002zvt.4_Missense_Mutation_p.W406L|TOP3B_uc010gtl.3_Missense_Mutation_p.W406L	NM_003935	NP_003926	O95985	TOP3B_HUMAN	Homo sapiens topoisomerase (DNA) III beta (TOP3B), mRNA.	406					DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		ATAGAGCCGCCACGCGTCACC	0.617													A	22317253	C	A	22317253	3	1	228	1	0	0	0	0	1	0	0	0	16469	595	21	4	1399	4	TOP3B	22	22317253	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08		22317253	28987313	118	15741											
ADRBK2	157	broad.mit.edu	37	chr22	26086159	26086159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctctttctgtttagccaGcaaatattctcttggatgaa	10	17	6	8	0	3	1	0	1	3	0	5	2	3	2	1	1	2	2	1	1	4	7			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:26086159G>A	uc003abx.4	+	11	1108	c.961G>A	c.(961-963)Gca>Aca	p.A321T	ADRBK2_uc010gux.3_Missense_Mutation_p.A321T|ADRBK2_uc003abw.2_Missense_Mutation_p.A208T|ADRBK2_uc003aby.4_Non-coding_Transcript	NM_005160	NP_005151	P35626	ARBK2_HUMAN	Homo sapiens adrenergic, beta, receptor kinase 2 (ADRBK2), mRNA.	321	Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TGTTTAGCCAGCAAATATTCT	0.398													A	26086159	G	A	26086159	3	1	228	1	0	0	0	0	1	0	0	0	344	971	34	2	1007	2	ADRBK2	22	26086159	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08	3768906	26086159	25218407	119	15742											
OSBP2	23762	broad.mit.edu	37	chr22	31137264	31137264	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggccaggagctaccaccTcaaggccagctcagaggtgg	9	5	15	12	0	2	1	2	0	0	1	2	2	2	2	4	6	3	2	4	6	2	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31137264T>G	uc003aiy.1	+	1	865	c.761T>G	c.(760-762)cTc>cGc	p.L254R	OSBP2_uc011ala.1_Missense_Mutation_p.L89R|OSBP2_uc010gwc.1_Missense_Mutation_p.L81R|OSBP2_uc003aix.1_Missense_Mutation_p.L254R|OSBP2_uc011alb.1_Missense_Mutation_p.L254R|OSBP2_uc003aiz.1_Missense_Mutation_p.L254R	NM_030758	NP_110385	Q969R2	OSBP2_HUMAN	Homo sapiens oxysterol binding protein 2 (OSBP2), transcript variant 1, mRNA.	254	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						AGCTACCACCTCAAGGCCAGC	0.612													G	31137264	T	G	31137264	3	3	228	1	0	0	0	0	1	0	0	0	11350	1551	54	5	767	5	OSBP2	22	31137264	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	5051105	31137264	20167302	120	15743											
MORC2	22880	broad.mit.edu	37	chr22	31336801	31336801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccgcacgggtcttgaaaCggcttgacgtgtacttgtac	7	11	12	11	4	1	2	0	2	1	0	2	2	2	2	1	2	3	5	1	2	3	5			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chr22:31336801C>T	uc003aje.1	-	10	2026	c.662G>A	c.(661-663)cGt>cAt	p.R221H		NM_014941	NP_055756	Q9Y6X9	MORC2_HUMAN	Homo sapiens MORC family CW-type zinc finger 2 (MORC2), mRNA.	283							ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGTCTTGAAACGGCTTGACGT	0.567													T	31336801	C	T	31336801	3	4	228	1	0	0	0	0	1	0	0	0	9778	536	19	1	2318	1	MORC2	22	31336801	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	199537	31336801	19967765	121	15744											
DACH2	117154	broad.mit.edu	37	chrX	85403790	85403790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaccacagcaacagtgccGgaggcggcggcaggggcaac	12	2	15	12	3	0	0	0	0	0	0	0	1	0	1	2	6	5	3	2	6	3	1			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:85403790G>A	uc004eew.2	+	0	336	c.166G>A	c.(166-168)Gga>Aga	p.G56R	DACH2_uc004eex.2_Missense_Mutation_p.G56R|DACH2_uc010nmq.2_5'UTR	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	56	Poly-Gly.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.G56R(3)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAACAGTGCCGGAGGCGGCGG	0.567													A	85403790	G	A	85403790	3	1	228	1	0	0	0	0	1	0	0	0	4255	1117	39	1	168	1	DACH2	23	85403790	Missense_Mutation	SNP	G	TCGA-32-2491-01A-01D-1353-08		85403790	69866770	122	15745											
SRPX2	27286	broad.mit.edu	37	chrX	99925877	99925877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtattgaccgagaccgcTacatggaacctgtcaccccc	10	7	10	14	2	1	2	1	1	0	1	1	4	1	3	5	2	2	2	5	2	3	3			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:99925877T>C	uc004egb.3	+	10	1771	c.1291T>C	c.(1291-1293)Tac>Cac	p.Y431H		NM_014467	NP_055282	O60687	SRPX2_HUMAN	Homo sapiens sushi-repeat containing protein, X-linked 2 (SRPX2), mRNA.	431					angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						CCGAGACCGCTACATGGAACC	0.512											OREG0019890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	99925877	T	C	99925877	3	2	228	1	0	0	0	0	1	0	0	0	15261	1522	53	3	1329	3	SRPX2	23	99925877	Missense_Mutation	SNP	T	TCGA-32-2491-01A-01D-1353-08	14522087	99925877	55344683	123	15746											
ZCCHC18	644353	broad.mit.edu	37	chrX	103359839	103359839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggaagcgaaaatacaCaacccgctgttcatattgtg	14	8	9	10	2	1	0	1	0	0	0	1	2	1	1	2	1	4	2	2	1	6	4			TCGA-32-2491-01A-01D-1353-08	TCGA-32-2491-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcca710c-959e-410c-b454-917da7af9bfb	54ecc5be-74ee-4d0c-a1bc-8c0749d8fe89	g.chrX:103359839C>G	uc011msh.2	+	2	2353	c.1037C>G	c.(1036-1038)aCa>aGa	p.T346R	SLC25A53_uc004elu.3_Intron|ZCCHC18_uc011msg.2_Intron	NM_001143978	NP_001137450	P0CG32	ZCC18_HUMAN	Homo sapiens zinc finger, CCHC domain containing 18 (ZCCHC18), transcript variant 1, mRNA.	346							nucleic acid binding|zinc ion binding										CGAAAATACACAACCCGCTGT	0.483													G	103359839	C	G	103359839	3	3	228	1	0	0	0	0	1	0	0	0	17687	478	17	4	1039	4	ZCCHC18	23	103359839	Missense_Mutation	SNP	C	TCGA-32-2491-01A-01D-1353-08	3433962	103359839	51910721	124	15747											
SPEN	23013	broad.mit.edu	37	chr1	16260498	16260498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagaaaaaacagcacCtccagtgacaaacaactctg	18	7	6	10	0	1	3	0	1	1	2	2	3	2	3	2	0	4	1	2	0	7	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16260498C>G	uc001axk.1	+	10	7967	c.7763C>G	c.(7762-7764)cCt>cGt	p.P2588R	SPEN_uc010obp.1_Missense_Mutation_p.P2547R	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2588	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAAACAGCACCTCCAGTGACA	0.522													G	16260498	C	G	16260498	3	3	229	1	0	0	0	0	1	0	0	0	15134	681	24	4	7805	4	SPEN	1	16260498	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		16260498	232990123	1	15748											
CLCNKA	1188	broad.mit.edu	37	chr1	16377403	16377403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatctggactcgctgttcGacaaccactcctgggcgctg	7	9	11	14	3	1	0	0	0	1	0	4	2	2	1	2	2	2	4	2	2	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:16377403G>A	uc001axx.4	+	11	1223	c.1087G>A	c.(1087-1089)Gac>Aac	p.D363N	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Missense_Mutation_p.D194N|CLCNKA_uc001axy.4_Missense_Mutation_p.D194N	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	363					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CTCGCTGTTCGACAACCACTC	0.672													A	16377403	G	A	16377403	3	1	229	1	0	0	0	0	1	0	0	0	3500	1058	37	1		1	CLCNKA	1	16377403	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	116905	16377403	232873218	2	15749											
LDLRAD2	401944	broad.mit.edu	37	chr1	22140914	22140914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcggaactgtgcgggCagacgtggcagggggacggg	7	4	21	9	4	0	1	0	0	0	1	0	3	0	3	1	7	2	2	1	7	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22140914C>G	uc001bfg.1	+	1	296	c.109C>G	c.(109-111)Cag>Gag	p.Q37E		NM_001013693	NP_001013715	Q5SZI1	LRAD2_HUMAN	Homo sapiens low density lipoprotein receptor class A domain containing 2 (LDLRAD2), mRNA.	37						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		ACTGTGCGGGCAGACGTGGCA	0.701													G	22140914	C	G	22140914	3	3	229	1	0	0	0	0	1	0	0	0	8765	711	25	4	115	4	LDLRAD2	1	22140914	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	5763511	22140914	227109707	3	15750											
HSPG2	3339	broad.mit.edu	37	chr1	22165399	22165399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagcggcctgagtcctcagGggctgcacgctcaaagtgca	8	7	14	12	2	2	1	2	1	0	0	3	1	3	1	2	3	3	5	2	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:22165399G>A	uc009vqd.3	-	73	10112	c.10072C>T	c.(10072-10074)Cct>Tct	p.P3358S	HSPG2_uc001bfj.3_Missense_Mutation_p.P3357S	NM_005529	NP_005520	P98160	PGBM_HUMAN	Homo sapiens heparan sulfate proteoglycan 2 (HSPG2), mRNA.	3357	Ig-like C2-type 19.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GAGTCCTCAGGGGCTGCACGC	0.682													A	22165399	G	A	22165399	3	1	229	1	0	0	0	0	1	0	0	0	7488	1232	43	2	3202	2	HSPG2	1	22165399	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	24485	22165399	227085222	4	15751											
ELAVL4	1996	broad.mit.edu	37	chr1	50610767	50610767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaaaaccaacctcatcGtcaactatttaccccagaat	16	8	3	14	1	2	1	2	0	0	1	3	1	2	1	4	0	5	1	4	0	7	3	rs116391279	by1000genomes	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:50610767G>A	uc001csb.2	+	1	416	c.148G>A	c.(148-150)Gtc>Atc	p.V50I	ELAVL4_uc001cry.3_Missense_Mutation_p.V53I|ELAVL4_uc001crz.3_Missense_Mutation_p.V50I|ELAVL4_uc001csa.3_Missense_Mutation_p.V67I|ELAVL4_uc001csc.3_Missense_Mutation_p.V50I|ELAVL4_uc009vyu.3_Missense_Mutation_p.V55I|ELAVL4_uc010omz.2_Missense_Mutation_p.V55I	NM_021952	NP_068771	P26378	ELAV4_HUMAN	Homo sapiens ELAV (embryonic lethal, abnormal vision, Drosophila)-like 4 (Hu antigen D) (ELAVL4), transcript variant 1, mRNA.	50	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding	p.I49I(1)		NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						CAACCTCATCGTCAACTATTT	0.448													A	50610767	G	A	50610767	3	1	229	1	0	0	0	0	1	0	0	0	5093	1145	40	1	253	1	ELAVL4	1	50610767	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	28445368	50610767	198639854	5	15752											
DMRTB1	63948	broad.mit.edu	37	chr1	53925199	53925199	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcttcctggtgcccgtcaagGgacacgcgggcaaatgccgc	7	6	14	14	4	1	0	1	0	0	0	2	1	2	1	3	3	2	2	3	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:53925199G>T	uc001cvq.1	+	0	128	c.73G>T	c.(73-75)Gga>Tga	p.G25*		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	25					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						GCCCGTCAAGGGACACGCGGG	0.602													T	53925199	G	T	53925199	4	4	229	1	0	0	0	0	0	1	0	0	4629	1233	43	4	75	4	DMRTB1	1	53925199	Nonsense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3314432	53925199	195325422	6	15753											
ARHGAP29	9411	broad.mit.edu	37	chr1	94650593	94650594	+	Frame_Shift_Ins	INS	-	-	T																															tgactaaattttccaaacacINStttcgatgacaaacaaggag																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:94650593_94650594insT	uc001dqj.4	-	17	2312_2313	c.1943_1944insA	c.(1942-1944)aagfs	p.K648fs	ARHGAP29_uc009wdq.1_Non-coding_Transcript|ARHGAP29_uc001dqk.3_Frame_Shift_Ins_p.K214fs	NM_004815	NP_004806	Q52LW3	RHG29_HUMAN	Homo sapiens Rho GTPase activating protein 29 (ARHGAP29), mRNA.	648					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	p.R647Q(1)		NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTTCCAAACACTTTCGATGACA	0.361													T	94650594	-	T	94650593	7	5	229	1	0	1	1	0	0	0	0	0	881	564	20	0	1865	0	ARHGAP29	1	94650593	Frame_Shift_Ins	INS	-	TCGA-32-2494-01A-01D-1353-08	40725394	94650593	154600028	7	15754											
CD2	914	broad.mit.edu	37	chr1	117311354	117311354	+	Frame_Shift_Del	DEL	A	A	-																															cccagacctcgagttcagccAaaacctccccatggggcagc																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:117311354delA	uc001egu.4	+	4	1034	c.1005delA	c.(1003-1005)ccafs	p.P335fs		NM_001767	NP_001758	P06729	CD2_HUMAN	Homo sapiens CD2 molecule (CD2), mRNA.	335	Pro-rich.				blood coagulation|cell surface receptor linked signaling pathway|cell-cell adhesion|induction of apoptosis|leukocyte migration|membrane raft polarization|natural killer cell activation|positive regulation of myeloid dendritic cell activation|regulation of T cell differentiation|T cell activation	integral to plasma membrane	receptor activity			NS(1)|breast(2)|large_intestine(3)|liver(1)|lung(8)|skin(2)|stomach(1)	18	Lung SC(450;0.225)	all_cancers(81;3.15e-06)|Acute lymphoblastic leukemia(138;1.7e-08)|all_epithelial(167;8.38e-07)|all_lung(203;3.37e-06)|Lung NSC(69;2.31e-05)		Epithelial(280;6.71e-26)|OV - Ovarian serous cystadenocarcinoma(397;4.74e-24)|all cancers(265;1.93e-22)|Lung(183;0.0543)|Kidney(133;0.0813)|Colorectal(144;0.174)|KIRC - Kidney renal clear cell carcinoma(1967;0.176)|LUSC - Lung squamous cell carcinoma(189;0.189)|BRCA - Breast invasive adenocarcinoma(282;0.201)	Alefacept(DB00092)	GAGTTCAGCCAAAACCTCCCC	0.517													-	117311354	A	-	117311354	7	5	229	1	0	1	0	1	0	0	0	0	3009	117	5	0	1023	0	CD2	1	117311354	Frame_Shift_Del	DEL	A	TCGA-32-2494-01A-01D-1353-08	22660761	117311354	131939267	8	15755											
OR10R2	343406	broad.mit.edu	37	chr1	158450132	158450132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgcattaccccactctTatgagctggcaggtgtgtgg	6	12	11	12	0	2	1	0	1	2	0	2	1	2	1	3	3	3	3	3	3	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:158450132T>C	uc010pik.2	+	0	465	c.465T>C	c.(463-465)ctT>ctC	p.L155L	AK057554_uc001fso.1_Non-coding_Transcript	NM_001004472	NP_001004472	Q8NGX6	O10R2_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily R, member 2 (OR10R2), mRNA.	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					ACCCCACTCTTATGAGCTGGC	0.473													C	158450132	T	C	158450132	2	2	229	1	0	0	0	0	0	0	0	1	10993	1741	61	3		3	OR10R2	1	158450132	Silent	SNP	T	TCGA-32-2494-01A-01D-1353-08	41138778	158450132	90800489	9	15756											
RCSD1	92241	broad.mit.edu	37	chr1	167667016	167667016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgcagcccccagacCggccctgcccagctggagac	7	3	12	19	1	0	2	0	0	0	2	0	3	0	2	6	3	4	3	6	3	0	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:167667016C>T	uc001gem.3	+	5	1342	c.1155C>T	c.(1153-1155)acC>acT	p.T385T	RCSD1_uc010pli.2_Silent_p.T355T	NM_052862	NP_443094	Q6JBY9	CPZIP_HUMAN	Homo sapiens RCSD domain containing 1 (RCSD1), mRNA.	385										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GCCCCCAGACCGGCCCTGCCC	0.642													T	167667016	C	T	167667016	2	4	229	1	0	0	0	0	0	0	0	1	13273	639	23	1		1	RCSD1	1	167667016	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	9216884	167667016	81583605	10	15757											
NME7	29922	broad.mit.edu	37	chr1	169138771	169138771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gattgctctgagagttccagGgcgtaaatgccgggcaattt	9	11	13	8	2	1	1	0	1	1	1	2	3	2	1	2	2	2	4	2	2	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:169138771G>A	uc001gfu.3	-	10	1250	c.1012C>T	c.(1012-1014)Cct>Tct	p.P338S	NME7_uc001gft.3_Missense_Mutation_p.P302S|NME7_uc010plq.2_Non-coding_Transcript	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	338					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					AGAGTTCCAGGGCGTAAATGC	0.368													A	169138771	G	A	169138771	3	1	229	1	0	0	0	0	1	0	0	0	10572	1232	43	2	126	2	NME7	1	169138771	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	1471755	169138771	80111850	11	15758											
LAMC1	3915	broad.mit.edu	37	chr1	183111900	183111900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaccatctggctgcttcaAcaccccgtccattgaaaagc	10	10	6	15	1	2	1	1	1	1	0	3	1	3	1	4	1	4	2	4	1	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:183111900A>G	uc001gpy.4	+	27	5062	c.4805A>G	c.(4804-4806)aAc>aGc	p.N1602S		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	1602	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGCTTCAACACCCCGTCC	0.527													G	183111900	A	G	183111900	3	3	229	1	0	0	0	0	1	0	0	0	8673	43	2	3	4915	3	LAMC1	1	183111900	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	13973129	183111900	66138721	12	15759											
HMCN1	83872	broad.mit.edu	37	chr1	186107024	186107024	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaccaggacttgcaataAtccatcagttcagcatggtg	12	9	10	10	0	2	0	2	0	0	0	3	2	3	2	2	3	2	3	2	3	2	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:186107024A>T	uc001grq.1	+	88	14073	c.13844A>T	c.(13843-13845)aAt>aTt	p.N4615I	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Missense_Mutation_p.N184I	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	4615	TSP type-1 2.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACTTGCAATAATCCATCAGTT	0.493													T	186107024	A	T	186107024	3	4	229	1	0	0	0	0	1	0	0	0	7275	101	4	5	14198	5	HMCN1	1	186107024	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	2995124	186107024	63143597	13	15760											
LGALS8	3964	broad.mit.edu	37	chr1	236711404	236711404	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatttaaagagctcagcagTattgacacgctggaaattaa	16	10	9	6	1	1	3	1	1	0	2	1	4	1	4	0	1	2	4	0	1	5	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr1:236711404T>A	uc001hxz.2	+	10	1278	c.897T>A	c.(895-897)agT>agA	p.S299R	LGALS8_uc001hxw.2_Missense_Mutation_p.S341R|LGALS8_uc001hxy.2_Missense_Mutation_p.S341R|LGALS8_uc009xgg.2_Non-coding_Transcript|LGALS8_uc001hya.2_Missense_Mutation_p.S299R|LGALS8_uc001hyc.2_Missense_Mutation_p.S282R	NM_201543	NP_963838	O00214	LEG8_HUMAN	Homo sapiens lectin, galactoside-binding, soluble, 8 (LGALS8), transcript variant 2, mRNA.	299	Galectin 2.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTCAGCAGTATTGACACGC	0.408													A	236711404	T	A	236711404	3	1	229	1	0	0	0	0	1	0	0	0	8807	1635	57	5	1061	5	LGALS8	1	236711404	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	50604380	236711404	12539217	14	15761											
LHCGR	3973	broad.mit.edu	37	chr2	48915481	48915481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcctccaagcataatCagaatggcatgtcttaatcg	13	10	7	11	1	2	1	1	0	1	1	5	1	4	1	3	1	2	2	3	1	4	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:48915481C>A	uc002rwu.4	-	10	1525	c.1455G>T	c.(1453-1455)ctG>ctT	p.L485L	STON1-GTF2A1L_uc021vhf.1_Intron	NM_000233	NP_000224	P22888	LSHR_HUMAN	Homo sapiens luteinizing hormone/choriogonadotropin receptor (LHCGR), mRNA.	485					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	CAAGCATAATCAGAATGGCAT	0.453													A	48915481	C	A	48915481	2	1	229	1	0	0	0	0	0	0	0	1	8822	813	29	4		4	LHCGR	2	48915481	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		48915481	194283892	15	15762											
CKAP2L	150468	broad.mit.edu	37	chr2	113514209	113514209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgctttgtgtttctcCaacaaattgtttattaaccc	9	17	5	10	0	1	0	0	0	1	0	3	0	2	0	3	0	3	3	3	0	4	6			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:113514209C>T	uc002tie.2	-	3	818	c.739G>A	c.(739-741)Gga>Aga	p.G247R	CKAP2L_uc002tif.2_Intron|CKAP2L_uc010yxp.1_Missense_Mutation_p.G82R|CKAP2L_uc010yxq.1_Missense_Mutation_p.G82R	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	247						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TGTGTTTCTCCAACAAATTGT	0.403													T	113514209	C	T	113514209	3	4	229	1	0	0	0	0	1	0	0	0	3474	603	21	2	1522	2	CKAP2L	2	113514209	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	64598728	113514209	129685164	16	15763											
TRAK2	66008	broad.mit.edu	37	chr2	202250994	202250994	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagatccctgttactGgcttggatgttgaaagtttc	9	13	12	7	0	0	2	0	1	0	1	2	4	1	4	1	3	1	5	1	3	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr2:202250994G>T	uc002uyb.4	-	13	2356	c.1910C>A	c.(1909-1911)cCa>cAa	p.P637Q		NM_015049	NP_055864	O60296	TRAK2_HUMAN	Homo sapiens trafficking protein, kinesin binding 2 (TRAK2), mRNA.	637				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding	p.P637Q(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CCCTGTTACTGGCTTGGATGT	0.418													T	202250994	G	T	202250994	3	4	229	1	0	0	0	0	1	0	0	0	16551	1348	47	4	846	4	TRAK2	2	202250994	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	88736785	202250994	40948379	17	15764											
CNTN6	27255	broad.mit.edu	37	chr3	1339583	1339583	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatttaacaggtgtgatgggGgaatatgaaccaaagattga	15	11	12	3	0	0	4	0	3	0	1	0	5	0	5	1	3	2	0	1	3	6	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:1339583G>T	uc003boz.3	+	6	936	c.669G>T	c.(667-669)ggG>ggT	p.G223G	CNTN6_uc010hbo.2_Silent_p.G218G|CNTN6_uc011asj.2_Silent_p.G151G|CNTN6_uc003bpa.3_Silent_p.G223G	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	223					axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane		p.G223W(1)		breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GTGTGATGGGGGAATATGAAC	0.358													T	1339583	G	T	1339583	2	4	229	1	0	0	0	0	0	0	0	1	3676	1219	43	4		4	CNTN6	3	1339583	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		1339583	196682847	18	15765											
ITPR1	3708	broad.mit.edu	37	chr3	4856788	4856788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctcttgttcttcttcatgGtcatcatcattgttcttaac	7	19	4	11	0	8	0	4	0	4	0	8	0	8	0	1	1	1	2	1	1	1	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:4856788G>A	uc003bqc.3	+	57	8058	c.7708G>A	c.(7708-7710)Gtc>Atc	p.V2570I	ITPR1_uc021wsi.1_Missense_Mutation_p.V2537I|ITPR1_uc021wsj.1_Missense_Mutation_p.V2522I|ITPR1_uc011asu.2_Missense_Mutation_p.V548I|ITPR1_uc010hcc.2_Missense_Mutation_p.V305I|ITPR1_uc011asv.2_Missense_Mutation_p.V261I	NM_001168272	NP_001161744	Q14643	ITPR1_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 1 (ITPR1), transcript variant 3, mRNA.	2585					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CTTCTTCATGGTCATCATCAT	0.448													A	4856788	G	A	4856788	3	1	229	1	0	0	0	0	1	0	0	0	7978	1261	44	2	7979	2	ITPR1	3	4856788	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3517205	4856788	193165642	19	15766											
ATP2B2	491	broad.mit.edu	37	chr3	10452358	10452358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccccagggagatgatggcgGcaatctccaggatgatgagc	10	6	15	10	1	1	4	0	3	1	1	2	6	1	5	3	4	1	1	3	4	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:10452358G>A	uc003bvt.3	-	2	780	c.341C>T	c.(340-342)gCc>gTc	p.A114V	ATP2B2_uc003bvv.3_Missense_Mutation_p.A114V|ATP2B2_uc003bvw.3_Missense_Mutation_p.A114V|ATP2B2_uc010hdp.2_Missense_Mutation_p.A114V|ATP2B2_uc010hdo.3_5'UTR	NM_001001331	NP_001001331	Q01814	AT2B2_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 2 (ATP2B2), transcript variant 1, mRNA.	114					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGGCGGCAATCTCCAG	0.592													A	10452358	G	A	10452358	3	1	229	1	0	0	0	0	1	0	0	0	1145	1203	42	2	3474	2	ATP2B2	3	10452358	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	5595570	10452358	187570072	20	15767											
C3orf20	84077	broad.mit.edu	37	chr3	14799018	14799018	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgcccctggtctctgAcgtggagctggagcgcttcc	5	8	15	13	3	1	1	0	1	1	0	3	4	2	3	3	4	2	2	3	4	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:14799018A>C	uc003byy.3	+	12	2533	c.2081A>C	c.(2080-2082)gAc>gCc	p.D694A	C3orf20_uc003byz.3_Missense_Mutation_p.D572A|C3orf20_uc003bza.3_Missense_Mutation_p.D572A|C3orf20_uc003bzb.1_Missense_Mutation_p.D195A|C3orf20_uc011avj.2_Missense_Mutation_p.D21A	NM_032137	NP_001171887	Q8ND61	CC020_HUMAN	Homo sapiens chromosome 3 open reading frame 20 (C3orf20), transcript variant 1, mRNA.	694						cytoplasm|integral to membrane		p.D694D(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						CTGGTCTCTGACGTGGAGCTG	0.632													C	14799018	A	C	14799018	3	2	229	1	0	0	0	0	1	0	0	0	2234	275	10	5	2123	5	C3orf20	3	14799018	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	4346660	14799018	183223412	21	15768											
MYRIP	25924	broad.mit.edu	37	chr3	40231528	40231528	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgagcaagctgtgtcccagGtcccgggccctgcccaggaa	7	7	13	14	1	0	1	0	1	0	0	2	2	2	2	4	3	3	2	4	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:40231528G>A	uc003cka.3	+	9	1374	c.1239G>A	c.(1237-1239)agG>agA	p.R413R	MYRIP_uc010hhu.3_Non-coding_Transcript|MYRIP_uc010hhv.3_Silent_p.R413R|MYRIP_uc010hhw.3_Silent_p.R324R|MYRIP_uc011ayz.2_Silent_p.R226R|FLJ33065_uc003ckb.3_Intron	NM_015460	NP_056275	Q8NFW9	MYRIP_HUMAN	Homo sapiens myosin VIIA and Rab interacting protein (MYRIP), mRNA.	413	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGTGTCCCAGGTCCCGGGCCC	0.637													A	40231528	G	A	40231528	2	1	229	1	0	0	0	0	0	0	0	1	10176	1252	44	2		2	MYRIP	3	40231528	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	25432510	40231528	157790902	22	15769											
PIK3CB	5291	broad.mit.edu	37	chr3	138374244	138374244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcgttaagatctgtagTctttccgaactgtgtgggcc	7	14	11	9	2	2	2	0	1	2	1	4	3	3	2	2	1	1	2	2	1	3	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374244T>G	uc011bmq.2	-	21	3200	c.3200A>C	c.(3199-3201)gAc>gCc	p.D1067A	PIK3CB_uc011bmn.2_Missense_Mutation_p.D579A|PIK3CB_uc011bmo.2_Missense_Mutation_p.D518A|PIK3CB_uc011bmp.2_Missense_Mutation_p.D654A|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1067	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.D1067V(2)		NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AGATCTGTAGTCTTTCCGAAC	0.408													G	138374244	T	G	138374244	3	3	229	1	0	0	0	0	1	0	0	0	11991	1667	58	5	14	5	PIK3CB	3	138374244	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	98142716	138374244	59648186	23	15770											
PIK3CB	5291	broad.mit.edu	37	chr3	138374281	138374281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccatccagttcactttagTagtccagctttccctgagcg	7	12	9	13	1	1	1	1	1	0	0	4	1	4	1	4	1	2	3	4	1	2	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:138374281T>C	uc011bmq.2	-	21	3163	c.3163A>G	c.(3163-3165)Act>Gct	p.T1055A	PIK3CB_uc011bmn.2_Missense_Mutation_p.T567A|PIK3CB_uc011bmo.2_Missense_Mutation_p.T506A|PIK3CB_uc011bmp.2_Missense_Mutation_p.T642A|PIK3CB_uc003est.1_Non-coding_Transcript	NM_006219	NP_006210	P42338	PK3CB_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, beta polypeptide (PIK3CB), transcript variant 1, mRNA.	1055	PI3K/PI4K.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						TTCACTTTAGTAGTCCAGCTT	0.413													C	138374281	T	C	138374281	3	2	229	1	0	0	0	0	1	0	0	0	11991	1638	57	3	51	3	PIK3CB	3	138374281	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	37	138374281	59648149	24	15771											
KCNAB1	7881	broad.mit.edu	37	chr3	155838668	155838668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgtctgcaccacaggcatgCcgcacaggtaagctgcccct	8	6	10	17	2	1	0	0	0	1	0	1	0	1	0	5	2	4	5	5	2	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:155838668C>T	uc003far.2	+	0	332	c.268C>T	c.(268-270)Ccg>Tcg	p.P90S	KCNAB1_uc011bon.1_Missense_Mutation_p.P90S	NM_172160	NP_751892	Q14722	KCAB1_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, beta member 1 (KCNAB1), transcript variant 1, mRNA.	90						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CACAGGCATGCCGCACAGGTA	0.592													T	155838668	C	T	155838668	3	4	229	1	0	0	0	0	1	0	0	0	8067	739	26	2	270	2	KCNAB1	3	155838668	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	17464387	155838668	42183762	25	15772											
VPS8	23355	broad.mit.edu	37	chr3	184543975	184543975	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgacaaggagtttgatattCctcaagttgatactcctcca	12	13	7	9	0	1	3	1	3	0	0	4	4	4	4	3	1	1	2	3	1	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:184543975C>G	uc021xik.1	+	1	266	c.178C>G	c.(178-180)Cct>Gct	p.P60A	VPS8_uc003fpb.1_Missense_Mutation_p.P60A|VPS8_uc010hyd.1_Missense_Mutation_p.P60A|VPS8_uc003fpc.1_Missense_Mutation_p.P60A	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	60							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTTTGATATTCCTCAAGTTGA	0.318													G	184543975	C	G	184543975	3	3	229	1	0	0	0	0	1	0	0	0	17320	855	30	4	184	4	VPS8	3	184543975	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	28705307	184543975	13478455	26	15773											
ACAP2	23527	broad.mit.edu	37	chr3	195012473	195012473	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcatggtgcaatggtccCcgcccttggacatctctttg	5	12	12	12	1	1	0	0	0	1	0	3	1	2	1	3	4	1	2	3	4	1	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr3:195012473C>T	uc003fun.4	-	19	2266	c.2025G>A	c.(2023-2025)cgG>cgA	p.R675R		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	675					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCAATGGTCCCCGCCCTTGGA	0.413													T	195012473	C	T	195012473	2	4	229	1	0	0	0	0	0	0	0	1	119	610	22	2		2	ACAP2	3	195012473	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	10468498	195012473	3009957	27	15774											
AFP	174	broad.mit.edu	37	chr4	74316398	74316398	+	Frame_Shift_Del	DEL	A	A	-																															gagctgatggccatcaccagAaaaatggcagccacagcagc																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:74316398delA	uc003hgz.1	+	10	1403	c.1356delA	c.(1354-1356)agafs	p.R452fs	AFP_uc011cbg.1_Frame_Shift_Del_p.R226fs	NM_001134	NP_001125	P02771	FETA_HUMAN	Homo sapiens alpha-fetoprotein (AFP), mRNA.	452	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCATCACCAGAAAAATGGCAG	0.517									Alpha-Fetoprotein, Hereditary Persistence of				-	74316398	A	-	74316398	7	5	229	1	0	1	0	1	0	0	0	0	363	243	9	0	1398	0	AFP	4	74316398	Frame_Shift_Del	DEL	A	TCGA-32-2494-01A-01D-1353-08		74316398	116837878	28	15775											
AFF1	4299	broad.mit.edu	37	chr4	88048823	88048823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaccttcacatgagggagGcaaaaaagatgaagcagaaa	19	4	11	7	0	1	5	1	2	0	3	1	6	1	6	1	2	1	2	1	2	5	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:88048823G>A	uc011ccz.2	+	15	3207	c.2932G>A	c.(2932-2934)Gca>Aca	p.A978T	AFF1_uc003hqj.4_Missense_Mutation_p.A971T|AFF1_uc003hqk.4_Missense_Mutation_p.A971T|AFF1_uc011cda.2_Missense_Mutation_p.A609T	NM_001166693	NP_001160165	P51825	AFF1_HUMAN	Homo sapiens AF4/FMR2 family, member 1 (AFF1), transcript variant 1, mRNA.	971						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CATGAGGGAGGCAAAAAAGAT	0.378													A	88048823	G	A	88048823	3	1	229	1	0	0	0	0	1	0	0	0	356	1203	42	2	3011	2	AFF1	4	88048823	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	13732425	88048823	103105453	29	15776											
NR3C2	4306	broad.mit.edu	37	chr4	149181209	149181209	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgaagcctcatccccAcacaccaaacatatttttga	13	10	3	15	0	1	2	1	2	0	0	3	2	3	2	5	0	2	0	5	0	3	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr4:149181209A>C	uc003ilj.4	-	2	2181	c.1818T>G	c.(1816-1818)tgT>tgG	p.C606W	NR3C2_uc003ilk.4_Missense_Mutation_p.C606W|NR3C2_uc010iph.3_Non-coding_Transcript	NM_000901	NP_000892	P08235	MCR_HUMAN	Homo sapiens nuclear receptor subfamily 3, group C, member 2 (NR3C2), transcript variant 1, mRNA.	606					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	CCTCATCCCCACACACCAAAC	0.413													C	149181209	A	C	149181209	3	2	229	1	0	0	0	0	1	0	0	0	10707	157	6	5	1164	5	NR3C2	4	149181209	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	61132386	149181209	41973067	30	15777											
POC5	134359	broad.mit.edu	37	chr5	74998543	74998543	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgtatgactagaatttgTtgctggtgaggaagagtcag	11	13	13	4	0	2	4	1	2	1	2	2	5	2	5	0	2	1	3	0	2	4	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr5:74998543T>C	uc003keh.4	-	4	597	c.400A>G	c.(400-402)Aca>Gca	p.T134A	POC5_uc010izu.3_Missense_Mutation_p.T17A|POC5_uc003keg.4_Missense_Mutation_p.T109A	NM_001099271	NP_001092741	Q8NA72	POC5_HUMAN	Homo sapiens POC5 centriolar protein homolog (Chlamydomonas) (POC5), transcript variant 1, mRNA.	134					cell cycle	centriole				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CTAGAATTTGTTGCTGGTGAG	0.403													C	74998543	T	C	74998543	3	2	229	1	0	0	0	0	1	0	0	0	12254	1725	60	3	1359	3	POC5	5	74998543	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08		74998543	105916717	31	15778											
HIVEP1	3096	broad.mit.edu	37	chr6	12121493	12121493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttagtattcattcagacGtagaagacagtggggagagc	13	9	12	7	1	2	4	2	0	0	4	2	5	2	4	0	2	1	2	0	2	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:12121493G>A	uc003nac.3	+	3	1644	c.1465G>A	c.(1465-1467)Gta>Ata	p.V489I	HIVEP1_uc011diq.2_Non-coding_Transcript	NM_002114	NP_002105	P15822	ZEP1_HUMAN	Homo sapiens human immunodeficiency virus type I enhancer binding protein 1 (HIVEP1), mRNA.	489					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	p.V489I(2)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCATTCAGACGTAGAAGACAG	0.527													A	12121493	G	A	12121493	3	1	229	1	0	0	0	0	1	0	0	0	7241	1145	40	1	1475	1	HIVEP1	6	12121493	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		12121493	158993574	32	15779											
SNX14	57231	broad.mit.edu	37	chr6	86258062	86258062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggaaggaacacagagccaGacagaatctctcttataagt	17	7	9	8	0	2	3	0	0	2	3	3	5	2	5	1	2	2	0	1	2	6	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:86258062G>C	uc003pkr.3	-	8	1017	c.824C>G	c.(823-825)tCt>tGt	p.S275C	SNX14_uc003pkp.3_Missense_Mutation_p.S138C|SNX14_uc003pkq.3_5'UTR|SNX14_uc011dzg.2_Missense_Mutation_p.S223C|SNX14_uc003pks.3_Missense_Mutation_p.S231C|SNX14_uc003pkt.3_Missense_Mutation_p.S275C	NM_153816	NP_722523	Q9Y5W7	SNX14_HUMAN	Homo sapiens sorting nexin 14 (SNX14), transcript variant 1, mRNA.	275	PXA.				cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		CACAGAGCCAGACAGAATCTC	0.279													C	86258062	G	C	86258062	3	2	229	1	0	0	0	0	1	0	0	0	14979	942	33	4	2100	4	SNX14	6	86258062	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	74136569	86258062	84857005	33	15780											
SIM1	6492	broad.mit.edu	37	chr6	100901720	100901720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccccacgcctcgccgagcCctgtggagacacagaagcat	9	4	12	16	3	0	2	0	0	0	2	1	4	0	2	5	2	2	1	5	2	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:100901720C>T	uc003pqj.4	-	2	643	c.176_splice	c.e2-1	p.G59_splice	SIM1_uc021zdg.1_Splice_Site_p.G59_splice|SIM1_uc010kcu.3_Splice_Site_p.G59_splice	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	59					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCGCCGAGCCCTGTGGAGAC	0.627													T	100901720	C	T	100901720	3	4	229	1	0	0	0	0	1	0	0	0	14417	637	22	2	2164	2	SIM1	6	100901720	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	14643658	100901720	70213347	34	15781											
BVES	11149	broad.mit.edu	37	chr6	105549004	105549004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtatttggagatgccGgttcaaaaacgtcatcatca	13	12	8	8	2	5	1	5	0	0	1	5	2	5	1	1	2	2	2	1	2	4	3	rs138992583		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:105549004G>A	uc003pqw.3	-	7	1200	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BVES_uc003pqx.3_Missense_Mutation_p.P348L|BVES_uc003pqy.3_Missense_Mutation_p.P348L	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	348					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				TGGAGATGCCGGTTCAAAAAC	0.453													A	105549004	G	A	105549004	3	1	229	1	0	0	0	0	1	0	0	0	1585	1116	39	1	43	1	BVES	6	105549004	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	4647284	105549004	65566063	35	15782											
TIAM2	26230	broad.mit.edu	37	chr6	155498003	155498003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacggtgttccccgagaCaatgcatgggaaatccagac	12	7	12	10	2	0	3	0	0	0	3	2	5	2	4	3	2	1	3	3	2	3	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:155498003C>A	uc003qqb.3	+	11	3688	c.2415C>A	c.(2413-2415)gaC>gaA	p.D805E	TIAM2_uc003qqe.3_Missense_Mutation_p.D805E|TIAM2_uc010kjj.3_Missense_Mutation_p.D338E|TIAM2_uc003qqf.3_Missense_Mutation_p.D181E|TIAM2_uc011efl.1_Missense_Mutation_p.D141E|TIAM2_uc003qqg.3_Missense_Mutation_p.D117E	NM_012454	NP_036586	Q8IVF5	TIAM2_HUMAN	Homo sapiens T-cell lymphoma invasion and metastasis 2 (TIAM2), transcript variant 1, mRNA.	805					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TTCCCCGAGACAATGCATGGG	0.408													A	155498003	C	A	155498003	3	1	229	1	0	0	0	0	1	0	0	0	15991	477	17	4	2441	4	TIAM2	6	155498003	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	49948999	155498003	15617064	36	15783											
FNDC1	84624	broad.mit.edu	37	chr6	159672498	159672498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatcaccgtggtggccGtggaaggttgccactcattt	8	10	12	11	2	2	0	2	0	0	0	2	1	2	1	3	4	2	2	3	4	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr6:159672498G>A	uc010kjv.3	+	16	5199	c.4999G>A	c.(4999-5001)Gtg>Atg	p.V1667M		NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	1667	Fibronectin type-III 5.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CGTGGTGGCCGTGGAAGGTTG	0.537													A	159672498	G	A	159672498	3	1	229	1	0	0	0	0	1	0	0	0	6017	1145	40	1	5065	1	FNDC1	6	159672498	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	4174495	159672498	11442569	37	15784											
MAD1L1	8379	broad.mit.edu	37	chr7	2255875	2255875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcagacttcatgttcttCacaatcgctgcatcctgctc	8	13	6	14	1	4	1	3	0	1	1	7	1	5	1	1	0	3	5	1	0	1	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:2255875C>T	uc003slh.1	-	7	992	c.726G>A	c.(724-726)gtG>gtA	p.V242V	MAD1L1_uc003sle.1_5'Flank|MAD1L1_uc003slf.1_Silent_p.V242V|MAD1L1_uc003slg.1_Silent_p.V242V|MAD1L1_uc010ksh.1_Silent_p.V242V|MAD1L1_uc003sli.1_Silent_p.V150V|MAD1L1_uc010ksi.1_Silent_p.V195V|MAD1L1_uc010ksj.3_Silent_p.V242V	NM_001013836	NP_003541	Q9Y6D9	MD1L1_HUMAN	Homo sapiens MAD1 mitotic arrest deficient-like 1 (yeast) (MAD1L1), transcript variant 2, mRNA.	242					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TCATGTTCTTCACAATCGCTG	0.597													T	2255875	C	T	2255875	2	4	229	1	0	0	0	0	0	0	0	1	9218	813	29	2		2	MAD1L1	7	2255875	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		2255875	156882788	38	15785											
HOXA13	3209	broad.mit.edu	37	chr7	27238936	27238936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccgaggcccggcaccActggcatatccaggtagcca	8	4	12	17	2	0	0	0	0	0	0	1	1	1	0	6	5	1	3	6	5	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:27238936A>G	uc003szb.1	-	0	790	c.761T>C	c.(760-762)gTg>gCg	p.V254A	HOTTIP_uc022aau.1_5'Flank	NM_000522	NP_000513	P31271	HXA13_HUMAN	Homo sapiens homeobox A13 (HOXA13), mRNA.	254					skeletal system development	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCCCGGCACCACTGGCATATC	0.672			T	NUP98	AML								G	27238936	A	G	27238936	3	3	229	1	0	0	0	0	1	0	0	0	7346	159	6	3	413	3	HOXA13	7	27238936	Missense_Mutation	SNP	A	TCGA-32-2494-01A-01D-1353-08	24983061	27238936	131899727	39	15786											
ASZ1	136991	broad.mit.edu	37	chr7	117067510	117067510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgcagcgcgctcgccGccatgccagccaaggaagct	7	4	13	17	5	0	0	0	0	0	0	2	1	0	1	5	2	4	3	5	2	2	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:117067510G>A	uc003vjb.2	-	0	68	c.5C>T	c.(4-6)gCg>gTg	p.A2V	ASZ1_uc011kno.1_Missense_Mutation_p.A2V|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	2					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGCGCTCGCCGCCATGCCAGC	0.692											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	117067510	G	A	117067510	3	1	229	1	0	0	0	0	1	0	0	0	1074	1087	38	1	1474	1	ASZ1	7	117067510	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	89828574	117067510	42071153	40	15787											
TRPV6	55503	broad.mit.edu	37	chr7	142575507	142575507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagggctgctatgtgtagCgctgtttcccccatggctcc	5	12	12	12	1	0	1	0	0	0	1	2	1	2	1	3	2	2	6	3	2	3	4	rs145875993		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr7:142575507C>T	uc003wbx.2	-	2	475	c.246G>A	c.(244-246)gcG>gcA	p.A82A	TRPV6_uc003wbw.1_5'Flank|TRPV6_uc010lou.1_5'UTR	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	82					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CTATGTGTAGCGCTGTTTCCC	0.562													T	142575507	C	T	142575507	2	4	229	1	0	0	0	0	0	0	0	1	16701	755	27	1		1	TRPV6	7	142575507	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	25507997	142575507	16563156	41	15788											
DPYSL2	1808	broad.mit.edu	37	chr8	26492400	26492400	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctgctgaggtcatcgcCcaggcacggaagaagggtga	10	6	15	10	2	2	3	1	2	1	1	3	4	2	4	1	4	2	3	1	4	2	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:26492400C>A	uc003xfb.2	+	7	1226	c.795C>A	c.(793-795)gcC>gcA	p.A265A	DPYSL2_uc003xfa.3_Silent_p.A370A|DPYSL2_uc011lag.2_Silent_p.A265A|DPYSL2_uc011lah.2_Silent_p.A229A	NM_001386	NP_001377	Q16555	DPYL2_HUMAN	Homo sapiens dihydropyrimidinase-like 2 (DPYSL2), transcript variant 2, mRNA.	265					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		AGGTCATCGCCCAGGCACGGA	0.607													A	26492400	C	A	26492400	2	1	229	1	0	0	0	0	0	0	0	1	4786	610	22	4		4	DPYSL2	8	26492400	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		26492400	119871622	42	15789											
LYN	4067	broad.mit.edu	37	chr8	56854426	56854426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacaggaaatatgggatGtataaaatcaaaagggaaag	20	8	10	3	0	2	0	2	0	0	0	2	3	2	3	0	3	1	1	0	3	9	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr8:56854426G>A	uc003xsk.4	+	1	290	c.8G>A	c.(7-9)tGt>tAt	p.C3Y	LYN_uc003xsl.4_Missense_Mutation_p.C3Y	NM_002350	NP_002341	P07948	LYN_HUMAN	Homo sapiens v-yes-1 Yamaguchi sarcoma viral related oncogene homolog (LYN), transcript variant 1, mRNA.	3					erythrocyte differentiation|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of cellular component movement|positive regulation of stress-activated protein kinase signaling cascade|positive regulation of tyrosine phosphorylation of STAT protein|response to DNA damage stimulus|T cell costimulation	cytosol|Golgi apparatus|membrane raft|nucleus|perinuclear region of cytoplasm	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|receptor signaling protein tyrosine kinase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22		all_lung(136;0.0555)|Lung NSC(129;0.0726)|all_epithelial(80;0.0772)	Epithelial(17;0.000834)|all cancers(17;0.00598)			AATATGGGATGTATAAAATCA	0.343													A	56854426	G	A	56854426	3	1	229	1	0	0	0	0	1	0	0	0	9178	1377	48	2	10	2	LYN	8	56854426	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	30362026	56854426	89509596	43	15790											
DMRT2	10655	broad.mit.edu	37	chr9	1056405	1056405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctgtttctgcccaaccGcatggtgcctggacctgact	5	12	10	14	1	2	1	0	1	2	0	2	2	2	2	4	2	4	3	4	2	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:1056405G>A	uc003zha.3	+	3	1018	c.818G>A	c.(817-819)cGc>cAc	p.R273H	DMRT2_uc003zhb.4_3'UTR|DMRT2_uc003zgy.4_Missense_Mutation_p.R117H|DMRT2_uc011llt.2_3'UTR|DMRT2_uc022bcw.1_3'UTR|DMRT2_uc011llv.2_Missense_Mutation_p.R273H	NM_181872	NP_870987	Q9Y5R5	DMRT2_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 2 (DMRT2), transcript variant 3, mRNA.	273					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		CTGCCCAACCGCATGGTGCCT	0.473													A	1056405	G	A	1056405	3	1	229	1	0	0	0	0	1	0	0	0	4625	1087	38	1	885	1	DMRT2	9	1056405	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		1056405	140157026	44	15791											
KIAA1045	23349	broad.mit.edu	37	chr9	34971375	34971375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtgtctgctttcaaggatgGgctgcgggacaggccttcca	6	11	14	10	1	2	0	1	0	1	0	3	2	3	2	2	4	2	2	2	4	1	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:34971375G>T	uc003zvq.3	+	1	258	c.80G>T	c.(79-81)gGg>gTg	p.G27V	KIAA1045_uc003zvr.3_Missense_Mutation_p.G27V	NM_015297	NP_056112	Q9UPV7	K1045_HUMAN	Homo sapiens KIAA1045 (KIAA1045), mRNA.	27							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			TTCAAGGATGGGCTGCGGGAC	0.607													T	34971375	G	T	34971375	3	4	229	1	0	0	0	0	1	0	0	0	8265	1232	43	4	82	4	KIAA1045	9	34971375	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	33914970	34971375	106242056	45	15792											
OR13C3	138803	broad.mit.edu	37	chr9	107298263	107298263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaccgtaaaatatgatcaCcacagtcaggtgagctgagc	13	8	11	9	1	2	3	2	3	0	0	2	3	2	3	2	2	3	3	2	2	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr9:107298263C>A	uc004bcb.1	-	0	832	c.832G>T	c.(832-834)Gtg>Ttg	p.V278L		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATATGATCACCACAGTCAGG	0.418													A	107298263	C	A	107298263	3	1	229	1	0	0	0	0	1	0	0	0	11011	507	18	4	215	4	OR13C3	9	107298263	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	72326888	107298263	33915168	46	15793											
MYO3A	53904	broad.mit.edu	37	chr10	26312961	26312961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttctaggaatccacccCcaaaactaaggcagcctgag	13	9	7	12	0	1	1	0	1	1	0	2	2	2	2	4	2	2	1	4	2	5	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:26312961C>T	uc001isn.2	+	8	1102	c.742C>T	c.(742-744)Cca>Tca	p.P248S	MYO3A_uc009xko.1_Missense_Mutation_p.P248S|MYO3A_uc009xkp.1_Non-coding_Transcript|MYO3A_uc009xkq.1_Missense_Mutation_p.P248S	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN	Homo sapiens myosin IIIA (MYO3A), mRNA.	248	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAATCCACCCCCAAAACTAAG	0.388													T	26312961	C	T	26312961	3	4	229	1	0	0	0	0	1	0	0	0	10152	623	22	2	768	2	MYO3A	10	26312961	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		26312961	109221786	47	15794											
GDF10	2662	broad.mit.edu	37	chr10	48429323	48429323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagggccatggccccgCggagtagcccctgtgtggcc	4	5	16	16	3	0	0	0	0	0	0	0	1	0	1	7	4	1	1	7	4	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr10:48429323C>T	uc001jfb.3	-	1	991	c.563G>A	c.(562-564)cGc>cAc	p.R188H	GDF10_uc009xnp.3_Missense_Mutation_p.R187H|GDF10_uc009xnq.2_Missense_Mutation_p.R188H	NM_004962	NP_004953	P55107	BMP3B_HUMAN	Homo sapiens growth differentiation factor 10 (GDF10), mRNA.	188					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CATGGCCCCGCGGAGTAGCCC	0.731													T	48429323	C	T	48429323	3	4	229	1	0	0	0	0	1	0	0	0	6367	768	27	1	881	1	GDF10	10	48429323	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	22116362	48429323	87105424	48	15795											
ZNF195	7748	broad.mit.edu	37	chr11	3381676	3381676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcatctaaactttcccagtCtttccttaaatataaattat	13	17	1	10	0	3	0	1	0	2	0	5	0	5	0	2	0	1	0	2	0	8	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:3381676C>G	uc001lxt.3	-	5	744	c.562G>C	c.(562-564)Gac>Cac	p.D188H	ZNF195_uc010qxr.2_Missense_Mutation_p.D169H|ZNF195_uc009ydz.3_Missense_Mutation_p.D143H|ZNF195_uc001lxu.3_Missense_Mutation_p.D120H|ZNF195_uc001lxv.3_Missense_Mutation_p.D165H|ZNF195_uc021qck.1_Missense_Mutation_p.D120H|ZNF195_uc001lxs.3_Missense_Mutation_p.D116H	NM_001130520	NP_001123992	O14628	ZN195_HUMAN	Homo sapiens zinc finger protein 195 (ZNF195), transcript variant 1, mRNA.	188	Spacer.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		CTTTCCCAGTCTTTCCTTAAA	0.343													G	3381676	C	G	3381676	3	3	229	1	0	0	0	0	1	0	0	0	17859	913	32	4	1331	4	ZNF195	11	3381676	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		3381676	131624840	49	15796											
CD44	960	broad.mit.edu	37	chr11	35226085	35226085	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caactcctagtagtacaacgGaagaaacagctacccagaag	17	5	8	11	1	0	2	0	0	0	2	1	3	1	3	2	1	6	3	2	1	9	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:35226085G>T	uc001mvu.3	+	9	1614	c.1180G>T	c.(1180-1182)Gaa>Taa	p.E394*	CD44_uc021qfw.1_Intron|CD44_uc001mvv.3_Nonsense_Mutation_p.E351*|CD44_uc001mvw.3_Intron|CD44_uc001mwc.4_Intron|CD44_uc001mvx.3_Intron|CD44_uc010rer.2_Intron|CD44_uc001mvy.3_Intron|CD44_uc009ykh.3_Intron|CD44_uc010reu.2_Intron|CD44_uc010res.2_Intron|CD44_uc010ret.2_Intron	NM_000610	NP_000601	P16070	CD44_HUMAN	Homo sapiens CD44 molecule (Indian blood group) (CD44), transcript variant 1, mRNA.	394	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TAGTACAACGGAAGAAACAGC	0.453													T	35226085	G	T	35226085	4	4	229	1	0	0	0	0	0	1	0	0	3047	1175	41	4	1218	4	CD44	11	35226085	Nonsense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	31844409	35226085	99780431	50	15797											
PTPRJ	5795	broad.mit.edu	37	chr11	48134462	48134462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagctctggagccaaCgatagtttaagaacacctga	14	8	11	8	1	1	3	0	2	1	1	1	5	1	4	2	2	4	2	2	2	5	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:48134462C>T	uc001ngp.4	+	2	634	c.279C>T	c.(277-279)aaC>aaT	p.N93N	PTPRJ_uc001ngo.4_Silent_p.N93N	NM_002843	NP_002834	Q12913	PTPRJ_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, J (PTPRJ), transcript variant 1, mRNA.	93					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CTGGAGCCAACGATAGTTTAA	0.453													T	48134462	C	T	48134462	2	4	229	1	0	0	0	0	0	0	0	1	12892	535	19	1		1	PTPRJ	11	48134462	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08	12908377	48134462	86872054	51	15798											
SLC29A2	3177	broad.mit.edu	37	chr11	66133408	66133409	+	Missense_Mutation	DNP	CA	CA	AC																															ccagccctggtgtgcttaccCacaggaagtaagaggtcagg																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:66133408_66133409CA>AC	uc001oht.3	-	10	1288	c.1059_splice	c.e10+1	p.W353_splice	SLC29A2_uc009yrf.3_Splice_Site_p.W233_splice|SLC29A2_uc001ohu.3_Splice_Site_p.W353_splice|SLC29A2_uc001ohv.3_Splice_Site_p.A309_splice|AX747485_uc001ohw.1_5'Flank	NM_001532	NP_001523	Q14542	S29A2_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 2 (SLC29A2), mRNA.	353					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity	p.W353S(1)		breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						TGTGCTTACCCACAGGAAGTAA	0.535													AC	66133409	CA	AC	66133408	3	1	229	1	0	0	0	0	1	0	0	0	14629	608	21	4	324	4	SLC29A2	11	66133408	Missense_Mutation	DNP	CA	TCGA-32-2494-01A-01D-1353-08	17998946	66133408	68873108	52	15799											
C11orf82	220042	broad.mit.edu	37	chr11	82639902	82639905	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															ttccttaaaagttgcagaatCaaacaaattgtttgttatta																										TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:82639902_82639905delCAAA	uc001ozt.3	+	3	441_444	c.197_200delCAAA	c.(196-201)tcaaacfs	p.S66fs	C11orf82_uc010rsr.2_5'UTR|C11orf82_uc010rss.2_Intron|C11orf82_uc009yvd.2_Frame_Shift_Del_p.S66fs	NM_145018	NP_659455	Q8IXT1	NOXIN_HUMAN	Homo sapiens chromosome 11 open reading frame 82 (C11orf82), mRNA.	66					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GTTGCAGAATCAAACAAATTGTTT	0.343													-	82639905	CAAA	-	82639902	7	5	229	1	0	1	0	1	0	0	0	0	1677	838	29	0	203	0	C11orf82	11	82639902	Frame_Shift_Del	DEL	CAAA	TCGA-32-2494-01A-01D-1353-08	16506494	82639902	52366614	53	15800											
ROBO4	54538	broad.mit.edu	37	chr11	124764984	124764984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctagtgggggtacctggtagCcacggatgatgccattgtgg	7	10	16	8	1	0	1	0	1	0	0	0	2	0	2	3	5	3	2	3	5	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr11:124764984C>T	uc001qbg.3	-	6	1282	c.1142G>A	c.(1141-1143)gGc>gAc	p.G381D	ROBO4_uc010sas.2_Missense_Mutation_p.G236D|ROBO4_uc001qbh.2_Missense_Mutation_p.G271D|ROBO4_uc001qbi.3_5'Flank|ROBO4_uc010sat.1_5'UTR	NM_019055	NP_061928	Q8WZ75	ROBO4_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 4 (Drosophila) (ROBO4), mRNA.	381	Fibronectin type-III 2.				angiogenesis|cell differentiation	integral to membrane	receptor activity	p.R380R(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		TACCTGGTAGCCACGGATGAT	0.542													T	124764984	C	T	124764984	3	4	229	1	0	0	0	0	1	0	0	0	13607	739	26	2	1929	2	ROBO4	11	124764984	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	42125082	124764984	10241532	54	15801											
VEZT	55591	broad.mit.edu	37	chr12	95660405	95660405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgatttccagaggatttaCactgtgagttcattttttat	10	18	8	5	0	1	3	1	2	0	1	2	4	2	4	1	1	1	1	1	1	2	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:95660405C>T	uc001tdz.2	+	4	812	c.707C>T	c.(706-708)aCa>aTa	p.T236I	VEZT_uc001tds.3_Missense_Mutation_p.T188I|VEZT_uc001tdv.3_Missense_Mutation_p.T205I|VEZT_uc009zsy.1_Missense_Mutation_p.T78I|VEZT_uc001tdr.2_Missense_Mutation_p.T78I|VEZT_uc001tdt.2_Missense_Mutation_p.T188I|VEZT_uc009zsz.1_Missense_Mutation_p.T236I|VEZT_uc001tdw.1_Missense_Mutation_p.T188I|VEZT_uc009zta.1_Missense_Mutation_p.T188I	NM_017599	NP_060069	Q9HBM0	VEZA_HUMAN	Homo sapiens vezatin, adherens junctions transmembrane protein (VEZT), transcript variant 1, mRNA.	236						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						AGAGGATTTACACTGTGAGTT	0.313													T	95660405	C	T	95660405	3	4	229	1	0	0	0	0	1	0	0	0	17258	478	17	2	725	2	VEZT	12	95660405	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		95660405	38191490	55	15802											
STAB2	55576	broad.mit.edu	37	chr12	104147041	104147041	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacgctccccactgggccaGtataagctgacctttgacaa	10	9	8	14	1	0	2	0	2	0	0	1	2	1	2	4	1	2	3	4	1	4	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:104147041G>A	uc001tjw.3	+	60	6810	c.6624G>A	c.(6622-6624)caG>caA	p.Q2208Q	STAB2_uc009zug.3_Non-coding_Transcript	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	2208	Link.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CACTGGGCCAGTATAAGCTGA	0.567													A	104147041	G	A	104147041	2	1	229	1	0	0	0	0	0	0	0	1	15334	1020	36	2		2	STAB2	12	104147041	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	8486636	104147041	29704854	56	15803											
ABCB9	23457	broad.mit.edu	37	chr12	123434439	123434439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaatatgagggtaaaaatgCcgccccgaatacctgcggca	14	6	10	11	3	0	1	0	1	0	0	0	2	0	1	4	2	3	2	4	2	7	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:123434439C>T	uc001udm.4	-	3	1053	c.743G>A	c.(742-744)gGc>gAc	p.G248D	ABCB9_uc021rfo.1_Missense_Mutation_p.G248D|ABCB9_uc021rfp.1_Missense_Mutation_p.G248D|ABCB9_uc001udo.4_Missense_Mutation_p.G248D|ABCB9_uc010taj.2_Missense_Mutation_p.G248D|ABCB9_uc001udq.3_Missense_Mutation_p.G30D|ABCB9_uc021rfq.1_Missense_Mutation_p.G248D|ABCB9_uc001udr.3_Missense_Mutation_p.G248D	NM_019625	NP_062571	Q9NP78	ABCB9_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 9 (ABCB9), transcript variant 1, mRNA.	248	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGTAAAAATGCCGCCCCGAAT	0.522													T	123434439	C	T	123434439	3	4	229	1	0	0	0	0	1	0	0	0	48	739	26	2	1593	2	ABCB9	12	123434439	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	19287398	123434439	10417456	57	15804											
NCOR2	9612	broad.mit.edu	37	chr12	124857156	124857156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgagctgttgttgacagtgGctgtgcagggcgagaaggaa	9	9	17	6	1	0	3	0	2	0	1	0	5	0	4	0	3	2	5	0	3	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:124857156G>A	uc021rga.1	-	20	2336	c.2219_splice	c.e20-1	p.A740_splice	NCOR2_uc021rgb.1_Splice_Site_p.A723_splice|NCOR2_uc010tbb.2_Splice_Site_p.A740_splice|NCOR2_uc010tbc.2_Splice_Site_p.A722_splice|NCOR2_uc021rgc.1_Splice_Site_p.A722_splice|NCOR2_uc010tba.2_Splice_Site_p.A740_splice|NCOR2_uc001ugj.1_Splice_Site_p.A740_splice	NM_006312	NP_006303	Q9Y618	NCOR2_HUMAN	Homo sapiens nuclear receptor corepressor 2 (NCOR2), transcript variant 1, mRNA.	740					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTTGACAGTGGCTGTGCAGGG	0.647													A	124857156	G	A	124857156	3	1	229	1	0	0	0	0	1	0	0	0	10312	1217	42	2	5461	2	NCOR2	12	124857156	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	1422717	124857156	8994739	58	15805											
PIWIL1	9271	broad.mit.edu	37	chr12	130830969	130830969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttccggctgacatcccGtccccagtgggccttatatc	6	11	8	16	2	0	1	0	1	0	0	4	1	3	1	6	2	0	1	6	2	2	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr12:130830969G>A	uc001uik.3	+	4	642	c.371G>A	c.(370-372)cGt>cAt	p.R124H	PIWIL1_uc001uij.2_Missense_Mutation_p.R124H	NM_004764	NP_004755	Q96J94	PIWL1_HUMAN	Homo sapiens piwi-like 1 (Drosophila) (PIWIL1), transcript variant 1, mRNA.	124					gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		CTGACATCCCGTCCCCAGTGG	0.393													A	130830969	G	A	130830969	3	1	229	1	0	0	0	0	1	0	0	0	12034	1145	40	1	385	1	PIWIL1	12	130830969	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	5973813	130830969	3020926	59	15806											
ENOX1	55068	broad.mit.edu	37	chr13	43788215	43788215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctgtttgaacatgcGtggcagcctcatcaaaagca	12	10	9	10	1	2	1	2	1	0	0	3	2	3	1	2	1	4	3	2	1	4	2	rs146880051		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr13:43788215G>A	uc001uza.4	-	16	2143	c.1843C>T	c.(1843-1845)Cgc>Tgc	p.R615C	ENOX1_uc001uzc.4_Missense_Mutation_p.R615C|ENOX1_uc001uzb.4_Missense_Mutation_p.R615C	NM_001127615	NP_060463	Q8TC92	ENOX1_HUMAN	Homo sapiens ecto-NOX disulfide-thiol exchanger 1 (ENOX1), transcript variant 2, mRNA.	615					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TTGAACATGCGTGGCAGCCTC	0.433													A	43788215	G	A	43788215	3	1	229	1	0	0	0	0	1	0	0	0	5167	1145	40	1	92	1	ENOX1	13	43788215	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		43788215	71381663	60	15807											
HEATR5A	25938	broad.mit.edu	37	chr14	31790820	31790820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagacggagctggtcaCtgtgatctgtggcagccata	11	8	13	9	1	2	3	1	1	1	2	2	4	2	4	1	3	2	2	1	3	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:31790820C>T	uc001wrf.4	-	24	4039	c.3854G>A	c.(3853-3855)aGt>aAt	p.S1285N	HEATR5A_uc010ami.3_Missense_Mutation_p.S890N	NM_015473	NP_056288	Q86XA9	HTR5A_HUMAN	Homo sapiens HEAT repeat containing 5A (HEATR5A), mRNA.	1279							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		GAGCTGGTCACTGTGATCTGT	0.408													T	31790820	C	T	31790820	3	4	229	1	0	0	0	0	1	0	0	0	7086	565	20	2	2334	2	HEATR5A	14	31790820	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		31790820	75558720	61	15808											
FOS	2353	broad.mit.edu	37	chr14	75745716	75745716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgggcttcaacgcagactacGaggcgtcatcctcccgctgc	7	7	11	16	5	2	1	2	0	0	1	4	2	4	1	2	2	3	3	2	2	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:75745716G>C	uc001xrn.3	+	0	236	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	FOS_uc010tva.2_Missense_Mutation_p.E11Q|FOS_uc010asi.3_5'Flank	NM_005252	NP_005243	P01100	FOS_HUMAN	Homo sapiens FBJ murine osteosarcoma viral oncogene homolog (FOS), mRNA.	11					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CGCAGACTACGAGGCGTCATC	0.662													C	75745716	G	C	75745716	3	2	229	1	0	0	0	0	1	0	0	0	6034	1059	37	4	33	4	FOS	14	75745716	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	43954896	75745716	31603824	62	15809											
KCNK13	56659	broad.mit.edu	37	chr14	90650893	90650893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagagccaaggcctctatcGctttgccaacttcgtcttca	8	12	8	13	2	3	1	1	1	2	1	5	2	3	1	3	1	3	1	3	1	3	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr14:90650893G>A	uc001xye.1	+	1	1215	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_022054	NP_071337	Q9HB14	KCNKD_HUMAN	Homo sapiens potassium channel, subfamily K, member 13 (KCNK13), mRNA.	258						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				GGCCTCTATCGCTTTGCCAAC	0.493													A	90650893	G	A	90650893	3	1	229	1	0	0	0	0	1	0	0	0	8119	1087	38	1	779	1	KCNK13	14	90650893	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	14905177	90650893	16698647	63	15810											
RYR3	6263	broad.mit.edu	37	chr15	34014993	34014993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgcttcggcccggccctgCggggtgaggggggaaacggg	5	5	21	10	4	0	1	0	1	0	0	1	2	0	2	2	8	3	1	2	8	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:34014993C>T	uc001zhi.3	+	43	6767	c.6697C>T	c.(6697-6699)Cgg>Tgg	p.R2233W	RYR3_uc010bar.3_Missense_Mutation_p.R2233W	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	2233	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCGGCCCTGCGGGGTGAGGG	0.587													T	34014993	C	T	34014993	3	4	229	1	0	0	0	0	1	0	0	0	13861	759	27	1	6871	1	RYR3	15	34014993	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		34014993	68516399	64	15811											
CILP	8483	broad.mit.edu	37	chr15	65495753	65495753	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttacagcacagagacacGctctgcccagctctccgtgc	8	7	9	17	2	2	1	0	0	2	1	3	2	2	1	3	0	5	3	3	0	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:65495753G>A	uc002aon.2	-	6	1156	c.975C>T	c.(973-975)agC>agT	p.S325S		NM_003613	NP_003604	O75339	CILP1_HUMAN	Homo sapiens cartilage intermediate layer protein, nucleotide pyrophosphohydrolase (CILP), mRNA.	325	Ig-like C2-type.				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						ACAGAGACACGCTCTGCCCAG	0.498													A	65495753	G	A	65495753	2	1	229	1	0	0	0	0	0	0	0	1	3459	1078	38	1		1	CILP	15	65495753	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	31480760	65495753	37035639	65	15812											
SCAMP2	10066	broad.mit.edu	37	chr15	75137888	75137888	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcatgatgactgataTggccagggaatgattatcca	13	10	9	9	0	1	4	1	4	0	0	2	5	2	5	3	2	0	0	3	2	3	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr15:75137888T>G	uc002azb.1	-	7	855	c.781A>C	c.(781-783)Ata>Cta	p.I261L	ULK3_uc010ulp.1_5'Flank|ULK3_uc010ulq.1_5'Flank|ULK3_uc010ulr.1_5'Flank|ULK3_uc010bkf.1_5'Flank|ULK3_uc002ayv.2_5'Flank|ULK3_uc010uls.1_5'Flank|ULK3_uc010ult.1_5'Flank|ULK3_uc010ulu.1_5'Flank|SCAMP2_uc002aza.1_Missense_Mutation_p.I111L	NM_005697	NP_005688	O15127	SCAM2_HUMAN	Homo sapiens secretory carrier membrane protein 2 (SCAMP2), mRNA.	261					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						ATGACTGATATGGCCAGGGAA	0.557													G	75137888	T	G	75137888	3	3	229	1	0	0	0	0	1	0	0	0	13963	1464	51	5	216	5	SCAMP2	15	75137888	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	9642135	75137888	27393504	66	15813											
ADCY9	115	broad.mit.edu	37	chr16	4033331	4033331	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggtggccgcctcgtacttCaggaagcaggtggtggacag	8	7	16	10	3	1	0	1	0	0	0	2	2	1	2	2	6	2	2	2	6	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:4033331C>T	uc002cvx.3	-	6	2960	c.2421G>A	c.(2419-2421)ctG>ctA	p.L807L		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	807					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCTCGTACTTCAGGAAGCAGG	0.637											OREG0023573	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	4033331	C	T	4033331	2	4	229	1	0	0	0	0	0	0	0	1	301	813	29	2		2	ADCY9	16	4033331	Silent	SNP	C	TCGA-32-2494-01A-01D-1353-08		4033331	86321422	67	15814											
RBL2	5934	broad.mit.edu	37	chr16	53500990	53500990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgccacctcagaacctGgaaagggcagatgaaatttg	13	8	11	9	0	2	3	2	1	0	2	2	4	2	4	3	2	2	1	3	2	3	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:53500990G>T	uc002ehi.4	+	13	2002	c.1884G>T	c.(1882-1884)ctG>ctT	p.L628L	RBL2_uc010vgv.1_Silent_p.L554L|RBL2_uc002ehj.3_Silent_p.L338L|RBL2_uc010vgw.2_Silent_p.L412L	NM_005611	NP_005602	Q08999	RBL2_HUMAN	Homo sapiens retinoblastoma-like 2 (p130) (RBL2), mRNA.	628	Pocket; binds E1A.|Spacer.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCAGAACCTGGAAAGGGCAG	0.423													T	53500990	G	T	53500990	2	4	229	1	0	0	0	0	0	0	0	1	13198	1335	47	4		4	RBL2	16	53500990	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	49467659	53500990	36853763	68	15815											
NOB1	28987	broad.mit.edu	37	chr16	69782153	69782153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaacagccatggcagCgcaagatgtagctccgggcc	11	6	12	12	2	0	2	0	1	0	1	1	2	1	2	3	2	4	4	3	2	3	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr16:69782153C>A	uc002exs.3	-	6	822	c.806G>T	c.(805-807)cGc>cTc	p.R269L		NM_014062	NP_054781	Q9ULX3	NOB1_HUMAN	Homo sapiens NIN1/RPN12 binding protein 1 homolog (S. cerevisiae) (NOB1), mRNA.	269						nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCCATGGCAGCGCAAGATGTA	0.522													A	69782153	C	A	69782153	3	1	229	1	0	0	0	0	1	0	0	0	10587	768	27	4	444	4	NOB1	16	69782153	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	16281163	69782153	20572600	69	15816											
CLDN7	1366	broad.mit.edu	37	chr17	7163801	7163801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagagcagtgcacctcccagGatgactagggcagaccctgc	10	5	13	13	0	0	3	0	1	0	2	1	5	1	4	3	2	3	3	3	2	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:7163801G>A	uc002gfm.4	-	3	1430	c.528C>T	c.(526-528)atC>atT	p.I176I	CLDN7_uc010cmc.3_3'UTR|CLDN7_uc002gfn.4_Silent_p.I176I	NM_001307	NP_001298	O95471	CLD7_HUMAN	Homo sapiens claudin 7 (CLDN7), transcript variant 1, mRNA.	176					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						CACCTCCCAGGATGACTAGGG	0.572													A	7163801	G	A	7163801	2	1	229	1	0	0	0	0	0	0	0	1	3521	1164	41	2		2	CLDN7	17	7163801	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		7163801	74031409	70	15817											
CDRT15	146822	broad.mit.edu	37	chr17	14139674	14139674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagtgctctctctggaggGgcctcttcccatgctggctc	3	12	11	15	0	3	0	0	0	3	0	7	1	5	1	3	4	2	3	3	4	0	1	rs141627800		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:14139674G>A	uc010vvu.2	-	1	336	c.336C>T	c.(334-336)gcC>gcT	p.A112A		NM_001007530	NP_001007531	Q96T59	CDRTF_HUMAN	Homo sapiens CMT1A duplicated region transcript 15 (CDRT15), mRNA.	112										endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		TCTCTGGAGGGGCCTCTTCCC	0.607													A	14139674	G	A	14139674	2	1	229	1	0	0	0	0	0	0	0	1	3205	1219	43	2		2	CDRT15	17	14139674	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	6975873	14139674	67055536	71	15818											
NF1	4763	broad.mit.edu	37	chr17	29508438	29508438	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaattgtgttttttccAgaaacagcatttaaatttaa	16	17	4	4	0	0	1	0	0	0	1	1	1	1	1	1	0	2	2	1	0	7	9			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:29508438A>G	uc002hgg.3	+	6	970	c.587_splice	c.e6-2	p.E196_splice	NF1_uc002hge.2_Splice_Site_p.E196_splice|NF1_uc002hgf.2_Splice_Site_p.E196_splice|NF1_uc002hgh.3_Splice_Site_p.E196_splice|NF1_uc010csn.2_Splice_Site_p.E56_splice	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	196					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGTTTTTTCCAGAAACAGCAT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29508438	A	G	29508438	5	3	229	1	0	0	0	0	0	0	1	0	10432	202	7	3	607	3	NF1	17	29508438	Splice_Site	SNP	A	TCGA-32-2494-01A-01D-1353-08	15368764	29508438	51686772	72	15819											
TADA2A	6871	broad.mit.edu	37	chr17	35834667	35834667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgtctataggtagacGgagtgcaccacccttgaacc	9	11	9	12	1	2	2	0	1	2	1	3	3	2	3	3	2	2	2	3	2	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:35834667G>A	uc002hnv.3	+	14	1448	c.1079G>A	c.(1078-1080)cGg>cAg	p.R360Q	TADA2A_uc002hnt.3_Missense_Mutation_p.R360Q|TADA2A_uc002hnw.3_Missense_Mutation_p.R259Q	NM_001488	NP_001479	O75478	TAD2A_HUMAN	Homo sapiens transcriptional adaptor 2A (TADA2A), transcript variant 1, mRNA.	360	SWIRM.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						ATAGGTAGACGGAGTGCACCA	0.453													A	35834667	G	A	35834667	3	1	229	1	0	0	0	0	1	0	0	0	15607	1116	39	1	1228	1	TADA2A	17	35834667	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	6326229	35834667	45360543	73	15820											
KRT12	3859	broad.mit.edu	37	chr17	39021192	39021192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctctacgccctggcGcagggccagttcattctcat	5	10	11	15	3	3	0	2	0	2	0	5	0	3	0	3	3	1	2	3	3	1	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:39021192G>A	uc002hvk.2	-	2	697	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C		NM_000223	NP_000214	Q99456	K1C12_HUMAN	Homo sapiens keratin 12 (KRT12), mRNA.	225	Coil 1B.|Rod.				visual perception	intermediate filament	structural molecule activity	p.R225C(4)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				ACGCCCTGGCGCAGGGCCAGT	0.552													A	39021192	G	A	39021192	3	1	229	1	0	0	0	0	1	0	0	0	8507	1087	38	1	835	1	KRT12	17	39021192	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3186525	39021192	42174018	74	15821											
TANC2	26115	broad.mit.edu	37	chr17	61466072	61466072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttatagcacagaaggtctttCcatggcactggcgtctttac	9	13	9	10	1	2	1	0	0	2	1	3	1	3	1	1	3	2	2	1	3	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr17:61466072C>G	uc002jal.4	+	13	2569	c.2546C>G	c.(2545-2547)tCc>tGc	p.S849C	TANC2_uc010wpe.2_Missense_Mutation_p.S759C|TANC2_uc002jan.1_5'UTR|TANC2_uc002jao.4_5'Flank|TANC2_uc002jam.1_Missense_Mutation_p.S216C	NM_025185	NP_079461	Q9HCD6	TANC2_HUMAN	Homo sapiens tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2 (TANC2), mRNA.	849							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAAGGTCTTTCCATGGCACTG	0.323													G	61466072	C	G	61466072	3	3	229	1	0	0	0	0	1	0	0	0	15642	855	30	4	2600	4	TANC2	17	61466072	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	22444880	61466072	19729138	75	15822											
SERPINB2	5273	broad.mit.edu	37	chr18	61585321	61585321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgatatatggagagaaaacGtatgcatttcacaatgtaag	16	10	10	5	2	1	1	1	0	0	1	1	4	1	2	0	1	2	3	0	1	7	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr18:61585321G>A	uc010xev.2	+	3	447	c.357G>A	c.(355-357)acG>acA	p.T119T	SERPINB2_uc010xew.2_Silent_p.T119T	NM_005024	NP_005015	P05120	PAI2_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 10 (SERPINB10), mRNA.	134					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity	p.T119T(1)		NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GAGAGAAAACGTATGCATTTC	0.348													A	61585321	G	A	61585321	2	1	229	1	0	0	0	0	0	0	0	1	14194	1132	40	1		1	SERPINB2	18	61585321	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		61585321	16491927	76	15823											
GZMM	3004	broad.mit.edu	37	chr19	547333	547333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtgatcccccactcgCgcccgtacatggcctcactg	6	7	12	16	3	1	1	1	1	0	0	3	2	2	2	4	3	1	1	4	3	1	1	rs148691419	byFrequency	TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:547333C>T	uc002low.1	+	1	154	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_005317	NP_005308	P51124	GRAM_HUMAN	Homo sapiens granzyme M (lymphocyte met-ase 1) (GZMM), mRNA.	37	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)		CCCCCACTCGCGCCCGTACAT	0.662													T	547333	C	T	547333	3	4	229	1	0	0	0	0	1	0	0	0	6974	768	27	1	115	1	GZMM	19	547333	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		547333	58581650	77	15824											
FSD1	79187	broad.mit.edu	37	chr19	4323057	4323057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagcaaggcgttcggcgtgGgcgtggcctaccgcagcctg	6	6	16	13	5	0	0	0	0	0	0	1	0	0	0	3	4	3	3	3	4	2	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:4323057G>A	uc002lzy.2	+	10	1267	c.1114G>A	c.(1114-1116)Ggc>Agc	p.G372S	FSD1_uc002maa.2_Missense_Mutation_p.G185S	NM_024333	NP_077309	Q9BTV5	FSD1_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 1 (FSD1), mRNA.	372	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTCGGCGTGGGCGTGGCCTA	0.687													A	4323057	G	A	4323057	3	1	229	1	0	0	0	0	1	0	0	0	6122	1232	43	2	1156	2	FSD1	19	4323057	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	3775724	4323057	54805926	78	15825											
KPTN	11133	broad.mit.edu	37	chr19	47979804	47979804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctgcaggatgtgcacGcccttcagggagaccacggc	9	6	13	13	2	1	1	1	0	0	1	1	4	1	2	3	3	3	2	3	3	1	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:47979804G>A	uc002pgy.3	-	10	1271	c.1167C>T	c.(1165-1167)ggC>ggT	p.G389G	KPTN_uc010xys.2_Non-coding_Transcript	NM_007059	NP_008990	Q9Y664	KPTN_HUMAN	Homo sapiens kaptin (actin binding protein) (KPTN), mRNA.	389					actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		GGATGTGCACGCCCTTCAGGG	0.667													A	47979804	G	A	47979804	2	1	229	1	0	0	0	0	0	0	0	1	8495	1074	38	1		1	KPTN	19	47979804	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	43656747	47979804	11149179	79	15826											
TNNT1	7138	broad.mit.edu	37	chr19	55645562	55645562	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatggaggcagccaggCagaccgggccctaggcccag	8	4	16	13	1	0	2	0	1	0	1	0	3	0	3	4	5	1	2	4	5	1	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr19:55645562C>G	uc002qjb.4	-	11	711	c.622G>C	c.(622-624)Gcc>Ccc	p.A208P	TNNT1_uc002qjc.4_Intron|TNNT1_uc002qje.4_Intron|TNNT1_uc002qjd.4_Intron	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	208					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding	p.A208P(2)|p.S207C(1)|p.S207S(1)		endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		GGCAGCCAGGCAGACCGGGCC	0.622													G	55645562	C	G	55645562	3	3	229	1	0	0	0	0	1	0	0	0	16430	710	25	4	226	4	TNNT1	19	55645562	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	7665758	55645562	3483421	80	15827											
KRTAP19-5	337972	broad.mit.edu	37	chr21	31874370	31874370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgaagcctccgtagccGtagcccaggcctccatagta	9	8	9	15	3	1	0	1	0	0	0	4	1	3	0	6	1	3	3	6	1	5	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31874370G>A	uc011ada.2	-	0	39	c.39C>T	c.(37-39)taC>taT	p.Y13Y		NM_181611	NP_853642	Q3LI72	KR195_HUMAN	Homo sapiens keratin associated protein 19-5 (KRTAP19-5), mRNA.	13						intermediate filament	protein binding			endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						CTCCGTAGCCGTAGCCCAGGC	0.572													A	31874370	G	A	31874370	2	1	229	1	0	0	0	0	0	0	0	1	8590	1140	40	1		1	KRTAP19-5	21	31874370	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08		31874370	16255525	81	15828											
KRTAP6-1	337966	broad.mit.edu	37	chr21	31986219	31986219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccgtagtagctgccaCacatggtgttggttgtggag	7	13	14	7	1	0	0	0	0	0	0	1	1	1	1	2	3	2	6	2	3	2	5	rs146113466		TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr21:31986219C>T	uc002yop.3	-	0	5	c.5G>A	c.(4-6)tGt>tAt	p.C2Y	KRTAP20-1_uc011ade.2_5'Flank	NM_181602	NP_853633	Q3LI64	KRA61_HUMAN	Homo sapiens keratin associated protein 6-1 (KRTAP6-1), mRNA.	2						cytosol|intermediate filament				breast(2)|endometrium(1)|lung(7)	10						GTAGCTGCCACACATGGTGTT	0.547													T	31986219	C	T	31986219	3	4	229	1	0	0	0	0	1	0	0	0	8628	478	17	2	214	2	KRTAP6-1	21	31986219	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	111849	31986219	16143676	82	15829											
SBF1	6305	broad.mit.edu	37	chr22	50886843	50886843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagcgacggtggtggggtgCggtggacacaaggagggagc	8	4	22	7	4	0	0	0	0	0	0	0	5	0	3	0	8	3	0	0	8	1	0			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chr22:50886843C>T	uc003blh.3	-	37	5377	c.5182G>A	c.(5182-5184)Gca>Aca	p.A1728T	SBF1_uc003ble.3_Missense_Mutation_p.A192T|SBF1_uc011arx.2_Missense_Mutation_p.A1366T	NM_002972	NP_002963	O95248	MTMR5_HUMAN	Homo sapiens SET binding factor 1 (SBF1), mRNA.	1702					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)		TGGTGGGGTGCGGTGGACACA	0.657													T	50886843	C	T	50886843	3	4	229	1	0	0	0	0	1	0	0	0	13950	768	27	1	515	1	SBF1	22	50886843	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08		50886843	417723	83	15830											
CCNB3	85417	broad.mit.edu	37	chrX	50053319	50053319	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggctttgcaggagaaaaGcaccatggaagaagagtccc	13	7	13	8	0	0	3	0	0	0	3	1	5	1	4	2	3	2	4	2	3	4	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:50053319G>T	uc004dox.4	+	5	2448	c.2150G>T	c.(2149-2151)aGc>aTc	p.S717I	CCNB3_uc004doy.3_Missense_Mutation_p.S717I|CCNB3_uc004doz.3_Intron|CCNB3_uc010njq.3_Intron	NM_033031	NP_149020	Q8WWL7	CCNB3_HUMAN	Homo sapiens cyclin B3 (CCNB3), transcript variant 3, mRNA.	717					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding	p.S717I(3)		breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CAGGAGAAAAGCACCATGGAA	0.453													T	50053319	G	T	50053319	3	4	229	1	0	0	0	0	1	0	0	0	2944	971	34	4	2164	4	CCNB3	23	50053319	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08		50053319	105217241	84	15831											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721739	64721739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaccaaccccagcgttcGgtggctgatgagctccgcat	8	7	11	15	3	0	2	0	2	0	0	2	2	1	2	5	2	4	4	5	2	2	1			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:64721739G>A	uc010nko.3	+	4	1228	c.1161G>A	c.(1159-1161)tcG>tcA	p.S387S		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	376							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						CCCAGCGTTCGGTGGCTGATG	0.527													A	64721739	G	A	64721739	2	1	229	1	0	0	0	0	0	0	0	1	17663	1103	39	1		1	ZC3H12B	23	64721739	Silent	SNP	G	TCGA-32-2494-01A-01D-1353-08	14668420	64721739	90548821	85	15832											
AWAT2	158835	broad.mit.edu	37	chrX	69263788	69263788	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactgaccttgagagggaaAtaatcgctgtagtgtttcca	11	12	10	8	1	0	2	0	2	0	1	2	4	1	3	2	1	1	3	2	1	4	5			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:69263788A>G	uc004dxt.1	-	2	261	c.255T>C	c.(253-255)taT>taC	p.Y85Y		NM_001002254	NP_001002254	Q6E213	AWAT2_HUMAN	Homo sapiens acyl-CoA wax alcohol acyltransferase 2 (AWAT2), mRNA.	85						endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(1)	9						TGAGAGGGAAATAATCGCTGT	0.602													G	69263788	A	G	69263788	2	3	229	1	0	0	0	0	0	0	0	1	1240	108	4	3		3	AWAT2	23	69263788	Silent	SNP	A	TCGA-32-2494-01A-01D-1353-08	4542049	69263788	86006772	86	15833											
NONO	4841	broad.mit.edu	37	chrX	70514099	70514099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacccgaaccctagcggagaTtgccaaagtggagctggaca	13	5	12	11	2	0	1	0	0	0	1	0	5	0	3	3	3	5	1	3	3	4	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70514099T>C	uc004dzo.3	+	5	1081	c.371T>C	c.(370-372)aTt>aCt	p.I124T	BCYRN1_uc011mpt.1_Intron|NONO_uc004dzn.3_Missense_Mutation_p.I124T|NONO_uc004dzp.3_Missense_Mutation_p.I124T|NONO_uc011mpv.2_Missense_Mutation_p.I35T|NONO_uc004dzq.3_5'UTR	NM_001145408	NP_001138882	Q15233	NONO_HUMAN	Homo sapiens non-POU domain containing, octamer-binding (NONO), transcript variant 1, mRNA.	124	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					CTAGCGGAGATTGCCAAAGTG	0.488			T	TFE3	papillary renal cancer								C	70514099	T	C	70514099	3	2	229	1	0	0	0	0	1	0	0	0	10610	1493	52	3	381	3	NONO	23	70514099	Missense_Mutation	SNP	T	TCGA-32-2494-01A-01D-1353-08	1250311	70514099	84756461	87	15834											
TAF1	6872	broad.mit.edu	37	chrX	70586172	70586172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatttccggtctatgggacCcggctgcgatttgctgctgc	4	14	12	11	3	1	0	0	0	1	0	2	2	2	1	2	3	4	3	2	3	2	4			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:70586172C>T	uc004dzu.4	+	0	59	c.8C>T	c.(7-9)cCc>cTc	p.P3L	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.P3L	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	3	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TCTATGGGACCCGGCTGCGAT	0.562													T	70586172	C	T	70586172	3	4	229	1	0	0	0	0	1	0	0	0	15610	623	22	2	10	2	TAF1	23	70586172	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	72073	70586172	84684388	88	15835											
ACTRT1	139741	broad.mit.edu	37	chrX	127185764	127185764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcatagagcgctgccaccGcatgattagacaggtagaaa	14	6	12	9	2	0	4	0	1	0	3	0	4	0	4	2	2	2	4	2	2	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:127185764G>A	uc004eum.3	-	0	619	c.422C>T	c.(421-423)gCg>gTg	p.A141V		NM_138289	NP_612146	Q8TDG2	ACTT1_HUMAN	Homo sapiens actin-related protein T1 (ACTRT1), mRNA.	141						cytoplasm|cytoskeleton		p.A141V(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CGCTGCCACCGCATGATTAGA	0.522													A	127185764	G	A	127185764	3	1	229	1	0	0	0	0	1	0	0	0	218	1087	38	1	712	1	ACTRT1	23	127185764	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	56599592	127185764	28084796	89	15836											
SLC25A14	9016	broad.mit.edu	37	chrX	129492634	129492634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgaatgcaggctcaaggAagcttgttccaagggagcat	12	9	12	8	1	1	0	1	0	0	0	3	3	2	2	1	3	3	5	1	3	4	3			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:129492634A>G	uc004evr.1	+	5	682	c.510A>G	c.(508-510)ggA>ggG	p.G170G	SLC25A14_uc010nrg.3_Silent_p.G170G|SLC25A14_uc011mut.2_Missense_Mutation_p.K110E|SLC25A14_uc011muu.2_Silent_p.G173G|SLC25A14_uc004evp.1_Silent_p.G173G|SLC25A14_uc004evq.1_Silent_p.G170G	NM_022810	NP_073721	O95258	UCP5_HUMAN	Homo sapiens solute carrier family 25 (mitochondrial carrier, brain), member 14 (SLC25A14), nuclear gene encoding mitochondrial protein, transcript variant short, mRNA.	173					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGGCTCAAGGAAGCTTGTTCC	0.373													G	129492634	A	G	129492634	2	3	229	1	0	0	0	0	0	0	0	1	14570	233	9	3		3	SLC25A14	23	129492634	Silent	SNP	A	TCGA-32-2494-01A-01D-1353-08	2306870	129492634	25777926	90	15837											
GPR112	139378	broad.mit.edu	37	chrX	135433699	135433699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgaatttacggaaaattCggtaaaataatcttttgcat	17	14	6	4	2	1	1	0	1	1	0	2	2	1	2	0	2	2	2	0	2	8	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:135433699C>T	uc004ezu.1	+	7	7113	c.6822_splice	c.e7+1	p.S2274_splice	GPR112_uc010nsb.1_Splice_Site_p.S2069_splice|GPR112_uc010nsc.1_Intron	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	2274					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ACGGAAAATTCGGTAAAATAA	0.269													T	135433699	C	T	135433699	3	4	229	1	0	0	0	0	1	0	0	0	6683	898	31	1	6835	1	GPR112	23	135433699	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	5941065	135433699	19836861	91	15838											
ATP11C	286410	broad.mit.edu	37	chrX	138879436	138879436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagtagtgcatactgcagCtttggtcagtaagataaata	14	12	10	5	0	1	2	1	0	0	2	1	2	1	2	0	1	4	5	0	1	7	7			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:138879436C>A	uc004faz.3	-	10	1015	c.916G>T	c.(916-918)Gct>Tct	p.A306S	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.A306S	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	306					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATACTGCAGCTTTGGTCAGT	0.343													A	138879436	C	A	138879436	3	1	229	1	0	0	0	0	1	0	0	0	1126	797	28	4	2625	4	ATP11C	23	138879436	Missense_Mutation	SNP	C	TCGA-32-2494-01A-01D-1353-08	3445737	138879436	16391124	92	15839											
TKTL1	8277	broad.mit.edu	37	chrX	153543586	153543586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctacgcgaacaacagagtcGttgtgctggatggtgacacc	10	8	13	10	3	0	2	0	1	0	1	1	4	0	3	1	2	4	3	1	2	3	2			TCGA-32-2494-01A-01D-1353-08	TCGA-32-2494-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d45df59-16c5-4706-82ec-6d2f729324ab	6a0d3963-8762-440e-b8f2-757de41b3204	g.chrX:153543586G>A	uc004fkg.3	+	6	1114	c.928G>A	c.(928-930)Gtt>Att	p.V310I	TKTL1_uc011mzl.2_Missense_Mutation_p.V304I|TKTL1_uc011mzm.2_Missense_Mutation_p.V106I|TKTL1_uc004fkh.3_Missense_Mutation_p.V254I	NM_012253	NP_001139406	P51854	TKTL1_HUMAN	Homo sapiens transketolase-like 1 (TKTL1), transcript variant 1, mRNA.	310					glucose catabolic process|thiamine metabolic process	cytoplasm|nucleus	metal ion binding|transketolase activity			NS(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(5)|prostate(1)|skin(1)|urinary_tract(2)	34	all_cancers(53;5.05e-16)|all_epithelial(53;1.82e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAACAGAGTCGTTGTGCTGGA	0.483													A	153543586	G	A	153543586	3	1	229	1	0	0	0	0	1	0	0	0	16035	1145	40	1	954	1	TKTL1	23	153543586	Missense_Mutation	SNP	G	TCGA-32-2494-01A-01D-1353-08	14664150	153543586	1726974	93	15840											
GNB1	2782	broad.mit.edu	37	chr1	1720568	1720568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaggaggcgcccgctCttggagaaggagacagaggt	11	4	18	8	2	1	3	0	0	1	3	1	7	1	5	1	6	0	2	1	6	2	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:1720568C>A	uc001aif.3	-	9	1203	c.840G>T	c.(838-840)aaG>aaT	p.K280N	GNB1_uc009vky.3_Missense_Mutation_p.K180N	NM_002074	NP_002065	P62873	GBB1_HUMAN	Homo sapiens guanine nucleotide binding protein (G protein), beta polypeptide 1 (GNB1), mRNA.	280					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCGCCCGCTCTTGGAGAAGG	0.587											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1720568	C	A	1720568	3	1	230	1	0	0	0	0	1	0	0	0	6571	912	32	4	190	4	GNB1	1	1720568	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		1720568	247530053	1	15841											
CHD5	26038	broad.mit.edu	37	chr1	6206730	6206730	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggcactcacctgtaGctccttcacccaggagcaat	8	8	8	17	1	2	0	2	0	0	0	4	1	4	1	4	2	2	4	4	2	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:6206730G>C	uc001amb.2	-	9	1696	c.1585C>G	c.(1585-1587)Cta>Gta	p.L529V	CHD5_uc001ama.2_5'Flank|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	529	Chromo 1.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CTCACCTGTAGCTCCTTCACC	0.647													C	6206730	G	C	6206730	3	2	230	1	0	0	0	0	1	0	0	0	3358	962	34	4	4407	4	CHD5	1	6206730	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4486162	6206730	243043891	2	15842											
CLCNKA	1188	broad.mit.edu	37	chr1	16377396	16377396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagcagcatctggactcGctgttcgacaaccactcctg	10	9	9	13	2	1	1	0	1	1	0	4	3	2	2	2	1	3	4	2	1	2	1	rs140705060		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:16377396G>A	uc001axx.4	+	11	1216	c.1080G>A	c.(1078-1080)tcG>tcA	p.S360S	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_Silent_p.S191S|CLCNKA_uc001axy.4_Silent_p.S191S	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	360					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ATCTGGACTCGCTGTTCGACA	0.672													A	16377396	G	A	16377396	2	1	230	1	0	0	0	0	0	0	0	1	3500	1074	38	1		1	CLCNKA	1	16377396	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	10170666	16377396	232873225	3	15843											
PTAFR	5724	broad.mit.edu	37	chr1	28477001	28477001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactggcacgctgcccttctCgtaatgctcaaagcagcgag	9	8	11	13	3	2	0	1	0	1	0	3	2	2	0	1	1	4	5	1	1	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:28477001C>T	uc009vte.3	-	2	867	c.532G>A	c.(532-534)Gag>Aag	p.E178K	PTAFR_uc021ojz.1_Missense_Mutation_p.E178K|PTAFR_uc001bpl.3_Missense_Mutation_p.E178K|PTAFR_uc001bpm.4_Missense_Mutation_p.E178K|PTAFR_uc021oka.1_Missense_Mutation_p.E178K	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	178					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity	p.E178K(2)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCCCTTCTCGTAATGCTCA	0.542													T	28477001	C	T	28477001	3	4	230	1	0	0	0	0	1	0	0	0	12808	893	31	1	500	1	PTAFR	1	28477001	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	12099605	28477001	220773620	4	15844											
SLC44A5	204962	broad.mit.edu	37	chr1	75708695	75708695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcacttggagacacagAtctgtgaacgaacaaagtga	14	7	12	8	1	1	4	0	2	1	2	1	6	1	4	0	2	2	1	0	2	3	1	rs148670291		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:75708695A>G	uc010oqz.1	-	7	529	c.463_splice	c.e7-1	p.I155_splice	SLC44A5_uc001dgt.2_Splice_Site_p.I116_splice|SLC44A5_uc001dgs.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgr.2_Splice_Site_p.I74_splice|SLC44A5_uc001dgu.3_Splice_Site_p.I116_splice|SLC44A5_uc010ora.2_Splice_Site_p.I110_splice|SLC44A5_uc010orb.2_Splice_Site	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	116						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GGAGACACAGATCTGTGAACG	0.383													G	75708695	A	G	75708695	3	3	230	1	0	0	0	0	1	0	0	0	14733	347	12	3	1991	3	SLC44A5	1	75708695	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	47231694	75708695	173541926	5	15845											
LRRC8C	84230	broad.mit.edu	37	chr1	90179098	90179098	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaactgtccttttgctaTctgtgctttgttagtatcta	8	19	6	8	0	3	0	1	0	2	0	4	0	4	0	1	0	3	4	1	0	6	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:90179098T>C	uc001dnl.4	+	2	1211	c.969T>C	c.(967-969)taT>taC	p.Y323Y		NM_032270	NP_115646	Q8TDW0	LRC8C_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member C (LRRC8C), mRNA.	323						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CCTTTTGCTATCTGTGCTTTG	0.408													C	90179098	T	C	90179098	2	2	230	1	0	0	0	0	0	0	0	1	9093	1442	50	3		3	LRRC8C	1	90179098	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	14470403	90179098	159071523	6	15846											
ABCA4	24	broad.mit.edu	37	chr1	94508933	94508933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattccgcttgtggtggaggCctgtgtcctccaacatggct	5	12	12	12	1	0	0	0	0	0	0	3	1	3	1	4	4	1	2	4	4	1	2	rs61750062		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:94508933C>T	uc001dqh.3	-	20	3253	c.3149G>A	c.(3148-3150)gGc>gAc	p.G1050D		NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	1050	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GTGGTGGAGGCCTGTGTCCTC	0.582													T	94508933	C	T	94508933	3	4	230	1	0	0	0	0	1	0	0	0	34	739	26	2	3792	2	ABCA4	1	94508933	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	4329835	94508933	154741688	7	15847											
POU2F1	5451	broad.mit.edu	37	chr1	167353107	167353107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctacaggtctcctgcaagcGcaaaatcttctaacgcaact	12	10	6	13	2	4	0	0	0	4	0	5	0	4	0	1	1	5	3	1	1	6	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:167353107G>A	uc001gec.3	+	8	902	c.663G>A	c.(661-663)gcG>gcA	p.A221A	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Silent_p.A244A|POU2F1_uc010plh.2_Silent_p.A181A|POU2F1_uc001ged.3_Silent_p.A219A|POU2F1_uc001gef.3_Silent_p.A233A|POU2F1_uc001geg.3_Silent_p.A119A	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	221					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						TCCTGCAAGCGCAAAATCTTC	0.438													A	167353107	G	A	167353107	2	1	230	1	0	0	0	0	0	0	0	1	12348	1074	38	1		1	POU2F1	1	167353107	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	72844174	167353107	81897514	8	15848											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267320	185267320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattgctccttggtgaagtCatatttcccatcatcttcca	8	15	6	12	0	3	1	2	1	1	0	6	1	6	1	3	1	1	2	3	1	2	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:185267320C>T	uc001grl.3	-	14	2399	c.1776G>A	c.(1774-1776)atG>atA	p.M592I	IVNS1ABP_uc001gri.3_Missense_Mutation_p.M252I|IVNS1ABP_uc001grj.3_Missense_Mutation_p.M252I|IVNS1ABP_uc009wyj.3_Missense_Mutation_p.M374I|IVNS1ABP_uc009wyk.3_Non-coding_Transcript	NM_006469	NP_006460	Q9Y6Y0	NS1BP_HUMAN	Homo sapiens influenza virus NS1A binding protein (IVNS1ABP), mRNA.	592					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTGGTGAAGTCATATTTCCCA	0.423													T	185267320	C	T	185267320	3	4	230	1	0	0	0	0	1	0	0	0	7988	826	29	2	156	2	IVNS1ABP	1	185267320	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	17914213	185267320	63983301	9	15849											
REN	5972	broad.mit.edu	37	chr1	204130489	204130489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaaccagtgtcaaagaCgactttgaaggtctggggtg	11	8	15	7	2	2	2	1	1	1	1	2	5	2	3	1	4	1	0	1	4	3	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:204130489C>T	uc001haq.2	-	2	348	c.304G>A	c.(304-306)Gtc>Atc	p.V102I		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	102					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity	p.V102I(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTGTCAAAGACGACTTTGAAG	0.582													T	204130489	C	T	204130489	3	4	230	1	0	0	0	0	1	0	0	0	13312	536	19	1	948	1	REN	1	204130489	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	18863169	204130489	45120132	10	15850											
HSD11B1	3290	broad.mit.edu	37	chr1	209880164	209880164	+	Frame_Shift_Del	DEL	G	G	-																															gcccaagcaggaaagctcatGggtgaggctgtttctcttac																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:209880164delG	uc001hhj.3	+	4	463	c.331_splice	c.e4+1	p.G111_splice	HSD11B1_uc021pin.1_Splice_Site_p.G111_splice|HSD11B1_uc001hhk.3_Splice_Site_p.G111_splice	NM_181755	NP_861420	P28845	DHI1_HUMAN	Homo sapiens hydroxysteroid (11-beta) dehydrogenase 1 (HSD11B1), transcript variant 2, mRNA.	111					glucocorticoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	11-beta-hydroxysteroid dehydrogenase|11-beta-hydroxysteroid dehydrogenase (NADP+) activity|binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	16				OV - Ovarian serous cystadenocarcinoma(81;1.04e-55)|Epithelial(68;1.57e-52)|all cancers(67;1.83e-46)|Colorectal(1306;0.115)	NADH(DB00157)	GAAAGCTCATGGGTGAGGCTG	0.517													-	209880164	G	-	209880164	7	5	230	1	0	1	0	1	0	0	0	0	7430	1362	47	0	340	0	HSD11B1	1	209880164	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	5749675	209880164	39370457	11	15851											
OR2T4	127074	broad.mit.edu	37	chr1	248525116	248525116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggaaatgctgtcctgatCcttctgatacactgtgacgc	8	13	9	11	1	2	3	0	3	2	0	4	4	4	4	2	1	2	1	2	1	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248525116C>A	uc001ieh.1	+	0	234	c.234C>A	c.(232-234)atC>atA	p.I78I		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTGTCCTGATCCTTCTGATAC	0.473													A	248525116	C	A	248525116	2	1	230	1	0	0	0	0	0	0	0	1	11103	845	30	4		4	OR2T4	1	248525116	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	38644952	248525116	725505	12	15852											
OR14I1	401994	broad.mit.edu	37	chr1	248844752	248844752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcctaagactatatatgatgGgattgaggaagggaggcaaa	15	9	13	4	0	0	3	0	2	0	1	1	6	1	6	1	4	0	1	1	4	6	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr1:248844752G>A	uc001ieu.1	-	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001004734	NP_001004734	A6ND48	O14I1_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily I, member 1 (OR14I1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						ATATATGATGGGATTGAGGAA	0.403													A	248844752	G	A	248844752	3	1	230	1	0	0	0	0	1	0	0	0	11023	1232	43	2	85	2	OR14I1	1	248844752	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	319636	248844752	405869	13	15853											
NRXN1	9378	broad.mit.edu	37	chr2	50280492	50280492	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtctccataattgatgTggacatctctgattgcatgg	9	14	11	7	0	2	2	0	2	2	0	4	3	2	3	1	3	1	2	1	3	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:50280492T>G	uc021vhh.1	-	18	4876	c.3955A>C	c.(3955-3957)Aca>Cca	p.T1319P	NRXN1_uc010fbp.3_Missense_Mutation_p.T284P|NRXN1_uc002rxb.4_Missense_Mutation_p.T1021P|NRXN1_uc021vhg.1_Missense_Mutation_p.T1389P|NRXN1_uc021vhi.1_Missense_Mutation_p.T1385P|NRXN1_uc021vhj.1_Missense_Mutation_p.T1315P	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.	1319					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			ATAATTGATGTGGACATCTCT	0.502													G	50280492	T	G	50280492	3	3	230	1	0	0	0	0	1	0	0	0	10741	1696	59	5	490	5	NRXN1	2	50280492	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		50280492	192918881	14	15854											
LCT	3938	broad.mit.edu	37	chr2	136594490	136594490	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataccttataatgggtgaTctgactggcatggagactgc	12	11	11	7	0	1	3	0	2	1	1	1	4	1	3	1	3	2	1	1	3	4	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:136594490T>A	uc002tuu.1	-	0	261	c.250A>T	c.(250-252)Atc>Ttc	p.I84F		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	84					carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TAATGGGTGATCTGACTGGCA	0.507													A	136594490	T	A	136594490	3	1	230	1	0	0	0	0	1	0	0	0	8752	1435	50	5	5601	5	LCT	2	136594490	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	86313998	136594490	106604883	15	15855											
COBLL1	22837	broad.mit.edu	37	chr2	165551199	165551199	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatccctttctgcctctttAtttgtcagttcttttggagc	5	20	6	10	0	4	0	1	0	3	0	5	1	5	1	2	1	2	1	2	1	2	8			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:165551199A>T	uc002ucp.3	-	11	3039	c.2817T>A	c.(2815-2817)aaT>aaA	p.N939K	COBLL1_uc002ucq.3_Missense_Mutation_p.N901K|COBLL1_uc010zcw.2_Missense_Mutation_p.N1006K|COBLL1_uc010zcx.2_Missense_Mutation_p.N947K|COBLL1_uc002ucn.3_Missense_Mutation_p.N367K|COBLL1_uc002uco.3_Missense_Mutation_p.N670K	NM_014900	NP_055715	Q53SF7	COBL1_HUMAN	Homo sapiens COBL-like 1 (COBLL1), mRNA.	977										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGCCTCTTTATTTGTCAGTT	0.468													T	165551199	A	T	165551199	3	4	230	1	0	0	0	0	1	0	0	0	3685	446	16	5	695	5	COBLL1	2	165551199	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	28956709	165551199	77648174	16	15856											
ZC3H15	55854	broad.mit.edu	37	chr2	187368763	187368763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatattgtctctataggtgtGcaagcatttcctggaagcta	11	14	9	7	0	1	0	0	0	1	0	3	1	2	1	1	2	3	3	1	2	7	6			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:187368763G>A	uc002upo.3	+	5	764	c.539G>A	c.(538-540)tGc>tAc	p.C180Y		NM_018471	NP_060941	Q8WU90	ZC3HF_HUMAN	Homo sapiens zinc finger CCCH-type containing 15 (ZC3H15), mRNA.	180						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			CTATAGGTGTGCAAGCATTTC	0.438													A	187368763	G	A	187368763	3	1	230	1	0	0	0	0	1	0	0	0	17668	1319	46	2	561	2	ZC3H15	2	187368763	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	21817564	187368763	55830610	17	15857											
CCDC150	284992	broad.mit.edu	37	chr2	197521487	197521487	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtgagtttctggtaaatCgaatgtgccgtcttgaaagc	10	13	11	7	2	2	2	0	2	2	0	3	3	2	2	1	1	2	2	1	1	4	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr2:197521487C>T	uc002utp.1	+	2	442	c.307C>T	c.(307-309)Cga>Tga	p.R103*	CCDC150_uc002uto.1_Nonsense_Mutation_p.R103*|CCDC150_uc010zgq.1_Non-coding_Transcript|CCDC150_uc010zgr.1_Intron|CCDC150_uc010zgs.1_Intron	NM_001080539	NP_001074008	Q8NCX0	CC150_HUMAN	Homo sapiens coiled-coil domain containing 150 (CCDC150), mRNA.	103								p.R103Q(1)		breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTGGTAAATCGAATGTGCCG	0.398													T	197521487	C	T	197521487	4	4	230	1	0	0	0	0	0	1	0	0	2811	876	31	1	317	1	CCDC150	2	197521487	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	10152724	197521487	45677886	18	15858											
NEK10	152110	broad.mit.edu	37	chr3	27233608	27233608	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgtcttcgttcccgtTctagcttcttttccaaggac	4	16	9	12	3	3	0	0	0	3	0	6	1	5	1	2	1	2	3	2	1	2	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:27233608T>G	uc010hfk.3	-	4	582	c.353A>C	c.(352-354)gAa>gCa	p.E118A	NEK10_uc003cds.1_Missense_Mutation_p.E203A|NEK10_uc010hfj.3_Missense_Mutation_p.E118A			Q6ZWH5	NEK10_HUMAN	Homo sapiens NIMA (never in mitosis gene a)- related kinase 10 (NEK10), mRNA.	806							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCGTTCCCGTTCTAGCTTCTT	0.423													G	27233608	T	G	27233608	3	3	230	1	0	0	0	0	1	0	0	0	10398	1798	62	5		5	NEK10	3	27233608	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		27233608	170788822	19	15859											
SLC22A14	9389	broad.mit.edu	37	chr3	38355344	38355344	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cggctgtgctgcatctttctCctccagcagattgggaggaa	7	11	12	11	1	2	1	0	0	2	1	4	3	3	3	2	3	3	4	2	3	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:38355344C>G	uc003cib.2	+	6	1363	c.1290C>G	c.(1288-1290)ctC>ctG	p.L430L	SLC22A14_uc010hhc.1_Silent_p.L430L|SLC22A14_uc011ayo.1_Non-coding_Transcript	NM_004803	NP_004794	Q9Y267	S22AE_HUMAN	Homo sapiens solute carrier family 22, member 14 (SLC22A14), mRNA.	430						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		GCATCTTTCTCCTCCAGCAGA	0.577													G	38355344	C	G	38355344	2	3	230	1	0	0	0	0	0	0	0	1	14539	842	30	4		4	SLC22A14	3	38355344	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	11121736	38355344	159667086	20	15860											
CDCP1	64866	broad.mit.edu	37	chr3	45153846	45153846	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcttatgagctttgacAtcccagatgaaagttctgtt	10	15	8	8	0	2	4	0	3	2	1	3	4	3	4	1	0	2	4	1	0	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:45153846A>G	uc003com.3	-	2	519	c.384T>C	c.(382-384)gaT>gaC	p.D128D	CDCP1_uc003con.3_Silent_p.D128D	NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	128						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGCTTTGACATCCCAGATGA	0.527													G	45153846	A	G	45153846	2	3	230	1	0	0	0	0	0	0	0	1	3123	214	8	3		3	CDCP1	3	45153846	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08	6798502	45153846	152868584	21	15861											
MYH15	22989	broad.mit.edu	37	chr3	108179152	108179152	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaattaaaaattactttatGcagagatgcaaccgtttgga	15	12	8	6	1	0	1	0	0	0	1	0	3	0	2	1	1	4	4	1	1	7	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:108179152G>C	uc003dxa.1	-	17	2044	c.1987C>G	c.(1987-1989)Cat>Gat	p.H663D		NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN	Homo sapiens myosin, heavy chain 15 (MYH15), mRNA.	663	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ATTACTTTATGCAGAGATGCA	0.299													C	108179152	G	C	108179152	3	2	230	1	0	0	0	0	1	0	0	0	10110	1319	46	4	3953	4	MYH15	3	108179152	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	63025306	108179152	89843278	22	15862											
GOLGB1	2804	broad.mit.edu	37	chr3	121413693	121413693	+	Frame_Shift_Del	DEL	G	G	-																															cattttggttacttcctcctGaagcatttttagttcaccat																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:121413693delG	uc010hrc.3	-	12	5803	c.5677delC	c.(5677-5679)cagfs	p.Q1893fs	GOLGB1_uc003eei.4_Frame_Shift_Del_p.Q1888fs|GOLGB1_uc003eej.4_Frame_Shift_Del_p.Q1854fs|GOLGB1_uc021xcy.1_Frame_Shift_Del_p.Q1813fs|GOLGB1_uc011bjm.1_Frame_Shift_Del_p.Q1774fs|GOLGB1_uc010hrd.1_Frame_Shift_Del_p.Q1852fs	NM_004487	NP_004478	Q14789	GOGB1_HUMAN	Homo sapiens golgin B1 (GOLGB1), mRNA.	1888					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ACTTCCTCCTGAAGCATTTTT	0.368													-	121413693	G	-	121413693	7	5	230	1	0	1	0	1	0	0	0	0	6618	1299	45	0	4157	0	GOLGB1	3	121413693	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	13234541	121413693	76608737	23	15863											
DIRC2	84925	broad.mit.edu	37	chr3	122514299	122514299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcctacggcttctccaGctgggacatcgcgctgctcg	5	8	12	16	4	1	0	0	0	1	0	4	1	1	1	3	3	3	4	3	3	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:122514299G>A	uc003efw.4	+	0	399	c.260G>A	c.(259-261)aGc>aAc	p.S87N	DIRC2_uc010hrl.3_Non-coding_Transcript|DIRC2_uc010hrm.3_5'UTR|HSPBAP1_uc003efu.2_5'Flank|HSPBAP1_uc003efv.2_5'Flank	NM_032839	NP_116228	Q96SL1	DIRC2_HUMAN	Homo sapiens disrupted in renal carcinoma 2 (DIRC2), mRNA.	87					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGCTTCTCCAGCTGGGACATC	0.662													A	122514299	G	A	122514299	3	1	230	1	0	0	0	0	1	0	0	0	4573	971	34	2	262	2	DIRC2	3	122514299	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	1100606	122514299	75508131	24	15864											
SELT	51714	broad.mit.edu	37	chr3	150321196	150321196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcgtctgcgatggtccGgagcgaggcctcggccaatc	5	6	17	13	6	1	0	0	0	1	0	4	3	2	1	3	6	2	0	3	6	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:150321196G>A	uc021xfp.1	+	0	131	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	SERP1_uc003exz.3_5'Flank|BC039424_uc003eye.2_5'Flank	NM_016275		P62341	SELT_HUMAN	Homo sapiens selenoprotein T (SELT), mRNA.	16				RSE -> WSD (in Ref. 4; AAH09611).	cell redox homeostasis|selenocysteine incorporation		selenium binding							LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			GCGATGGTCCGGAGCGAGGCC	0.597													A	150321196	G	A	150321196	3	1	230	1	0	0	0	0	1	0	0	0	14115	1116	39	1	49	1	SELT	3	150321196	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	27806897	150321196	47701234	25	15865											
PIK3CA	5290	broad.mit.edu	37	chr3	178916614	178916614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcaaagaatcagaacaAtgcctccacgaccatcatca	16	7	5	13	1	3	2	3	0	0	2	4	3	4	2	3	0	3	1	3	0	4	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr3:178916614A>G	uc003fjk.3	+	1	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(3)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCAGAACAATGCCTCCACG	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916614	A	G	178916614	3	3	230	1	0	0	0	0	1	0	0	0	11990	101	4	3	3	3	PIK3CA	3	178916614	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	28595418	178916614	19105816	26	15866											
MFSD7	84179	broad.mit.edu	37	chr4	680439	680439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggacaggaccaagtccTcagcaatgacgtcagccaca	13	5	9	14	1	2	1	2	1	0	0	3	3	3	3	4	2	2	1	4	2	2	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:680439T>C	uc003gay.3	-	1	233	c.176A>G	c.(175-177)gAg>gGg	p.E59G	MFSD7_uc003gaw.3_5'Flank|MFSD7_uc003gax.3_Missense_Mutation_p.E59G|MFSD7_uc003gaz.3_Intron	NM_032219	NP_115595	Q6UXD7	MFSD7_HUMAN	Homo sapiens major facilitator superfamily domain containing 7 (MFSD7), mRNA.	59					transmembrane transport	integral to membrane				cervix(1)|kidney(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	11						GACCAAGTCCTCAGCAATGAC	0.622													C	680439	T	C	680439	3	2	230	1	0	0	0	0	1	0	0	0	9612	1551	54	3	1539	3	MFSD7	4	680439	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08		680439	190473837	27	15867											
DRD5	1816	broad.mit.edu	37	chr4	9784960	9784960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagggtcctttcgatcGcatgttccagatctatcaga	9	11	12	9	2	2	2	1	0	1	2	6	5	4	4	2	3	0	2	2	3	1	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:9784960G>A	uc003gmb.4	+	0	1703	c.1307G>A	c.(1306-1308)cGc>cAc	p.R436H		NM_000798	NP_000789	P21918	DRD5_HUMAN	Homo sapiens dopamine receptor D5 (DRD5), mRNA.	436					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane		p.R436S(1)		NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CCTTTCGATCGCATGTTCCAG	0.552													A	9784960	G	A	9784960	3	1	230	1	0	0	0	0	1	0	0	0	4799	1087	38	1	1309	1	DRD5	4	9784960	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9104521	9784960	181369316	28	15868											
UGT2A1	10941	broad.mit.edu	37	chr4	70513056	70513056	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatagaatctccaaatggTtgaaggagatggtctatttt	12	14	10	5	0	2	4	0	2	2	2	3	5	2	4	1	3	0	1	1	3	5	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:70513056T>C	uc011caq.2	-	1	423	c.307A>G	c.(307-309)Acc>Gcc	p.T103A	UGT2A1_uc010ihu.3_Missense_Mutation_p.T103A|UGT2A1_uc003hem.4_Missense_Mutation_p.T103A|UGT2A1_uc010iht.3_Missense_Mutation_p.T103A	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	103					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CTCCAAATGGTTGAAGGAGAT	0.408													C	70513056	T	C	70513056	3	2	230	1	0	0	0	0	1	0	0	0	17055	1725	60	3	1300	3	UGT2A1	4	70513056	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	60728096	70513056	120641220	29	15869											
EGF	1950	broad.mit.edu	37	chr4	110883096	110883096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtcccttatgtttcTgtcctgaaggctcagtgctt	7	14	10	10	0	2	2	1	1	1	1	4	2	4	2	2	2	1	3	2	2	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr4:110883096T>A	uc003hzy.4	+	7	1719	c.1267T>A	c.(1267-1269)Tgt>Agt	p.C423S	EGF_uc011cfu.2_Missense_Mutation_p.C381S|EGF_uc011cfv.2_Missense_Mutation_p.C423S	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	423	EGF-like 3.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CTTATGTTTCTGTCCTGAAGG	0.393													A	110883096	T	A	110883096	3	1	230	1	0	0	0	0	1	0	0	0	5001	1580	55	5	1297	5	EGF	4	110883096	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	40370040	110883096	80271180	30	15870											
PDZD2	23037	broad.mit.edu	37	chr5	32074373	32074381	+	In_Frame_Del	DEL	CCTATGCAG	CCTATGCAG	-																															gggcatggtggatgctgcgtCctatgcagccaacctcacgg																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:32074373_32074381delCCTATGCAG	uc003jhl.3	+	17	3549_3557	c.3161_3169delCCTATGCAG	c.(3160-3171)tcctatgcagcc>tcc	p.YAA1055del	PDZD2_uc003jhm.3_In_Frame_Del_p.YAA1055del|PDZD2_uc011cnx.1_In_Frame_Del_p.YAA881del	NM_178140	NP_835260	O15018	PDZD2_HUMAN	Homo sapiens PDZ domain containing 2 (PDZD2), mRNA.	1055					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GATGCTGCGTCCTATGCAGCCAACCTCAC	0.569													-	32074381	CCTATGCAG	-	32074373	7	5	230	1	0	1	0	1	0	0	0	0	11777	855	30	0	3227	0	PDZD2	5	32074373	In_Frame_Del	DEL	CCTATGCAG	TCGA-32-2495-01A-01D-1353-08		32074373	148840887	31	15871											
ADAMTS12	81792	broad.mit.edu	37	chr5	33751608	33751608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagtggatgcttcttcaCgggttcaatgaaaaagtctc	12	11	9	9	1	4	1	2	1	2	0	5	2	4	2	1	2	2	2	1	2	4	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:33751608C>T	uc003jia.1	-	2	698	c.535G>A	c.(535-537)Gtg>Atg	p.V179M	ADAMTS12_uc010iuq.1_Missense_Mutation_p.V179M|ADAMTS12_uc003jib.1_Missense_Mutation_p.V179M	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	179					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGCTTCTTCACGGGTTCAATG	0.423										HNSCC(64;0.19)			T	33751608	C	T	33751608	3	4	230	1	0	0	0	0	1	0	0	0	257	536	19	1	4337	1	ADAMTS12	5	33751608	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1677235	33751608	147163652	32	15872											
ACSL6	23305	broad.mit.edu	37	chr5	131296260	131296260	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaattcctctcttctGggcccaggagggcataactt	7	13	8	13	0	3	0	1	0	2	0	6	1	5	1	3	3	1	1	3	3	2	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:131296260G>A	uc003kvx.2	-	18	2021	c.1912C>T	c.(1912-1914)Cag>Tag	p.Q638*	ACSL6_uc003kvv.1_Non-coding_Transcript|ACSL6_uc003kwb.3_Nonsense_Mutation_p.Q603*|ACSL6_uc003kvy.2_Nonsense_Mutation_p.Q638*|ACSL6_uc003kvz.2_Nonsense_Mutation_p.Q538*|ACSL6_uc021ydh.1_Nonsense_Mutation_p.Q538*|ACSL6_uc010jdo.2_Nonsense_Mutation_p.Q613*|ACSL6_uc003kwa.2_Nonsense_Mutation_p.Q624*|ACSL6_uc003kvw.2_Nonsense_Mutation_p.Q259*|ACSL6_uc010jdn.2_Nonsense_Mutation_p.Q628*	NM_015256	NP_001192177	Q9UKU0	ACSL6_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 6 (ACSL6), transcript variant 1, mRNA.	613					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTCTTCTGGGCCCAGGAG	0.458													A	131296260	G	A	131296260	4	1	230	1	0	0	0	0	0	1	0	0	181	1357	47	2	268	2	ACSL6	5	131296260	Nonsense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	97544652	131296260	49619000	33	15873											
CSF1R	1436	broad.mit.edu	37	chr5	149456956	149456956	+	Frame_Shift_Del	DEL	G	G	-																															gttgagggtcaggactttttGgtaacggttattatgaaagt																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:149456956delG	uc003lrl.3	-	4	967	c.772delC	c.(772-774)caafs	p.Q258fs	CSF1R_uc011dcd.2_Frame_Shift_Del_p.Q110fs|CSF1R_uc010jhc.3_Non-coding_Transcript|CSF1R_uc003lrm.3_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dce.1_Frame_Shift_Del_p.Q258fs|CSF1R_uc011dcf.2_Frame_Shift_Del_p.Q258fs	NM_005211	NP_005202	P07333	CSF1R_HUMAN	Homo sapiens colony stimulating factor 1 receptor (CSF1R), mRNA.	258	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	AGGACTTTTTGGTAACGGTTA	0.478													-	149456956	G	-	149456956	7	5	230	1	0	1	0	1	0	0	0	0	3965	1357	47	0	2214	0	CSF1R	5	149456956	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	18160696	149456956	31458304	34	15874											
FABP6	2172	broad.mit.edu	37	chr5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagcatggctttcaccgGcaagttcgagatggagagtg	10	8	14	9	2	1	2	1	0	0	2	2	4	1	2	1	3	2	5	1	3	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr5:159656578G>A	uc003lya.1	+	0	142	c.14G>A	c.(13-15)gGc>gAc	p.G5D	FABP6_uc003lxx.1_Missense_Mutation_p.G54D|FABP6_uc003lxz.1_Missense_Mutation_p.G54D	NM_001445	NP_001436	P51161	FABP6_HUMAN	Homo sapiens fatty acid binding protein 6, ileal (FABP6), transcript variant 2, mRNA.	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.G5D(2)|p.G54D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537													A	159656578	G	A	159656578	3	1	230	1	0	0	0	0	1	0	0	0	5406	1203	42	2	171	2	FABP6	5	159656578	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	10199622	159656578	21258682	35	15875											
PGBD1	84547	broad.mit.edu	37	chr6	28269185	28269186	+	Missense_Mutation	DNP	GT	GT	TA																															cacctagatcaaaaagataaGtttacaaagttgagacctct																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:28269185_28269186GT>TA	uc003nky.3	+	6	1974_1975	c.1554_1555GT>TA	c.(1552-1557)aagttt>aaTAtt	p.518_519KF>NI	PGBD1_uc003nkz.3_Missense_Mutation_p.518_519KF>NI	NM_032507	NP_115896	Q96JS3	PGBD1_HUMAN	Homo sapiens piggyBac transposable element derived 1 (PGBD1), transcript variant 2, mRNA.	518					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity	p.D517N(1)		endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AAAAAGATAAGTTTACAAAGTT	0.356													TA	28269186	GT	TA	28269185	3	4	230	1	0	0	0	0	1	0	0	0	11857	1020	36	4	1576	4	PGBD1	6	28269185	Missense_Mutation	DNP	GT	TCGA-32-2495-01A-01D-1353-08		28269185	142845882	36	15876											
TRIM10	10107	broad.mit.edu	37	chr6	30126240	30126240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaataagagcactaaacCggcagatctccccagcaacc	14	6	6	15	1	2	2	1	0	1	2	3	2	2	2	4	1	4	3	4	1	5	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:30126240C>T	uc003npo.3	-	2	768	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	TRIM10_uc003npn.2_Missense_Mutation_p.R231Q	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	231						cytoplasm	zinc ion binding			ovary(1)	1						AGCACTAAACCGGCAGATCTC	0.542													T	30126240	C	T	30126240	3	4	230	1	0	0	0	0	1	0	0	0	16587	652	23	1	861	1	TRIM10	6	30126240	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1857055	30126240	140988827	37	15877											
TAP2	6891	broad.mit.edu	37	chr6	32797852	32797852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagaacagcacaggctcctgCccaactgaaaccacctgtgc	12	5	9	15	0	0	2	0	1	0	1	1	3	1	2	4	1	6	2	4	1	3	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:32797852C>T	uc011dqf.1	-	9	1772	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	TAP2_uc003ocb.1_Silent_p.G550G|TAP2_uc003occ.3_Silent_p.G550G|TAP2_uc003ocd.3_Silent_p.G550G	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	550	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										CAGGCTCCTGCCCAACTGAAA	0.587													T	32797852	C	T	32797852	2	4	230	1	0	0	0	0	0	0	0	1	15648	726	26	2		2	TAP2	6	32797852	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	2671612	32797852	138317215	38	15878											
CRISP3	10321	broad.mit.edu	37	chr6	49700907	49700907	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgctaaaatatatacttaCgcaggacaatattggcaaac	18	9	6	8	2	0	0	0	0	0	0	0	1	0	1	0	2	4	3	0	2	10	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:49700907C>T	uc021zai.1	-	6	678	c.590_splice	c.e6+1	p.A197_splice	CRISP3_uc003ozs.3_Splice_Site_p.A187_splice	NM_001190986	NP_001177915	P54108	CRIS3_HUMAN	Homo sapiens cysteine-rich secretory protein 3 (CRISP3), transcript variant 2, mRNA.	174					innate immune response	proteinaceous extracellular matrix|specific granule		p.?(2)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATATACTTACGCAGGACAAT	0.299													T	49700907	C	T	49700907	5	4	230	1	0	0	0	0	0	0	1	0	3912	550	19	1	227	1	CRISP3	6	49700907	Splice_Site	SNP	C	TCGA-32-2495-01A-01D-1353-08	16903055	49700907	121414160	39	15879											
NT5E	4907	broad.mit.edu	37	chr6	86203692	86203692	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttaatatttctttcactTtgggcagtgatctttgtttt	6	23	6	6	0	4	1	1	1	3	0	4	1	4	1	0	1	0	2	0	1	2	9			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:86203692T>C	uc003pko.4	+	8	2251	c.1695T>C	c.(1693-1695)ctT>ctC	p.L565L	NT5E_uc010kbr.3_Silent_p.L515L	NM_002526	NP_002517	P21589	5NTD_HUMAN	Homo sapiens 5'-nucleotidase, ecto (CD73) (NT5E), transcript variant 1, mRNA.	565					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTCTTTCACTTTGGGCAGTGA	0.358													C	86203692	T	C	86203692	2	2	230	1	0	0	0	0	0	0	0	1	10769	1828	64	3		3	NT5E	6	86203692	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	36502785	86203692	84911375	40	15880											
MAP3K5	4217	broad.mit.edu	37	chr6	137041637	137041637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcacagtagaggatgatgTtgttggccatgctgaaactt	11	13	11	6	0	1	3	1	2	0	1	1	4	1	4	1	2	2	4	1	2	3	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr6:137041637T>C	uc003qhc.3	-	1	900	c.539A>G	c.(538-540)aAc>aGc	p.N180S	MAP3K5_uc011edk.1_Missense_Mutation_p.N25S|MAP3K5_uc010kgw.1_Missense_Mutation_p.N180S	NM_005923	NP_005914	Q99683	M3K5_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 5 (MAP3K5), mRNA.	180					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		GAGGATGATGTTGTTGGCCAT	0.473													C	137041637	T	C	137041637	3	2	230	1	0	0	0	0	1	0	0	0	9328	1725	60	3	3701	3	MAP3K5	6	137041637	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	50837945	137041637	34073430	41	15881											
GLI3	2737	broad.mit.edu	37	chr7	42005081	42005081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgcgggtggacgaccAtgccgttgcagaacccaaag	9	7	14	11	3	1	1	0	0	1	1	1	3	1	2	3	3	4	3	3	3	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:42005081A>G	uc011kbh.2	-	14	3681	c.3590T>C	c.(3589-3591)aTg>aCg	p.M1197T	GLI3_uc011kbg.2_Missense_Mutation_p.M1138T	NM_000168	NP_000159	P10071	GLI3_HUMAN	Homo sapiens GLI family zinc finger 3 (GLI3), mRNA.	1197					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						GTGGACGACCATGCCGTTGCA	0.662									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G	42005081	A	G	42005081	3	3	230	1	0	0	0	0	1	0	0	0	6495	217	8	3	1156	3	GLI3	7	42005081	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		42005081	117133582	42	15882											
LMTK2	22853	broad.mit.edu	37	chr7	97822800	97822800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagtggatgtccacgaagCgctactggactctttaggat	9	11	12	9	2	2	0	1	0	1	0	3	4	3	3	1	3	2	1	1	3	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:97822800C>T	uc003upd.2	+	10	3316	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V		NM_014916	NP_055731	Q8IWU2	LMTK2_HUMAN	Homo sapiens lemur tyrosine kinase 2 (LMTK2), mRNA.	1008					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GTCCACGAAGCGCTACTGGAC	0.587													T	97822800	C	T	97822800	3	4	230	1	0	0	0	0	1	0	0	0	8920	768	27	1	3065	1	LMTK2	7	97822800	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	55817719	97822800	61315863	43	15883											
LAMB1	3912	broad.mit.edu	37	chr7	107566693	107566693	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatatattctgcctcccCggagttttgggcagctttcc	6	15	8	12	1	2	0	1	0	1	0	4	1	4	1	4	2	2	3	4	2	3	7	rs143093758		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107566693C>A	uc003vev.2	-	29	5232	c.5071G>T	c.(5071-5073)Ggg>Tgg	p.G1691W	LAMB1_uc003vew.2_Missense_Mutation_p.G1667W	NM_002291	NP_002282	P07942	LAMB1_HUMAN	Homo sapiens laminin, beta 1 (LAMB1), mRNA.	1667	Domain I.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTGCCTCCCCGGAGTTTTGG	0.428													A	107566693	C	A	107566693	3	1	230	1	0	0	0	0	1	0	0	0	8669	652	23	4	373	4	LAMB1	7	107566693	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	9743893	107566693	51571970	44	15884											
LAMB4	22798	broad.mit.edu	37	chr7	107703420	107703420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactccatgggactcacgccGgaagcatggcaggagcatcc	10	5	12	14	2	1	0	1	0	0	0	3	3	3	3	3	4	2	3	3	4	1	0	rs144037364	byFrequency	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:107703420G>A	uc010ljo.1	-	22	3165	c.3081C>T	c.(3079-3081)tcC>tcT	p.S1027S	LAMB4_uc003vey.2_Silent_p.S1027S|LAMB4_uc010ljp.1_5'UTR	NM_007356	NP_031382	A4D0S4	LAMB4_HUMAN	Homo sapiens laminin, beta 4 (LAMB4), mRNA.	1027	Laminin EGF-like 11.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						GACTCACGCCGGAAGCATGGC	0.517													A	107703420	G	A	107703420	2	1	230	1	0	0	0	0	0	0	0	1	8672	1103	39	1		1	LAMB4	7	107703420	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	136727	107703420	51435243	45	15885											
MET	4233	broad.mit.edu	37	chr7	116340174	116340174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgacattcttttcggggtgTtcgcacaaagcaagccagat	11	11	10	9	2	1	2	0	1	1	1	3	2	1	2	1	2	2	3	1	2	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340174T>C	uc003vij.3	+	1	1223	c.1036T>C	c.(1036-1038)Ttc>Ctc	p.F346L	MET_uc022akk.1_Missense_Mutation_p.F346L|MET_uc010lkh.3_Missense_Mutation_p.F346L|MET_uc011knc.1_Missense_Mutation_p.F346L|MET_uc011knd.2_Missense_Mutation_p.F346L|MET_uc011knf.2_Missense_Mutation_p.F346L|MET_uc011kne.2_Missense_Mutation_p.F346L|MET_uc011kng.1_Missense_Mutation_p.F346L|MET_uc011knh.1_Missense_Mutation_p.F346L|MET_uc011kni.2_Missense_Mutation_p.F346L|MET_uc003vii.1_Missense_Mutation_p.F365L|MET_uc010lkg.3_Missense_Mutation_p.F346L|MET_uc011kmz.1_Missense_Mutation_p.F346L|MET_uc011kna.1_Missense_Mutation_p.F346L|MET_uc011knb.1_Missense_Mutation_p.F346L	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	346	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTCGGGGTGTTCGCACAAAG	0.468			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				C	116340174	T	C	116340174	3	2	230	1	0	0	0	0	1	0	0	0	9560	1725	60	3	1038	3	MET	7	116340174	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	8636754	116340174	42798489	46	15886											
MET	4233	broad.mit.edu	37	chr7	116340270	116340270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacttcttcaacaagatcGtcaacaaaaacaatgtgaga	18	8	6	9	2	3	2	2	1	1	2	4	4	3	2	0	0	3	0	0	0	6	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:116340270G>A	uc003vij.3	+	1	1319	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	MET_uc022akk.1_Missense_Mutation_p.V378I|MET_uc010lkh.3_Missense_Mutation_p.V378I|MET_uc011knc.1_Missense_Mutation_p.V378I|MET_uc011knd.2_Missense_Mutation_p.V378I|MET_uc011knf.2_Missense_Mutation_p.V378I|MET_uc011kne.2_Missense_Mutation_p.V378I|MET_uc011kng.1_Missense_Mutation_p.V378I|MET_uc011knh.1_Missense_Mutation_p.V378I|MET_uc011kni.2_Missense_Mutation_p.V378I|MET_uc003vii.1_Missense_Mutation_p.V397I|MET_uc010lkg.3_Missense_Mutation_p.V378I|MET_uc011kmz.1_Missense_Mutation_p.V378I|MET_uc011kna.1_Missense_Mutation_p.V378I|MET_uc011knb.1_Missense_Mutation_p.V378I	NM_000245	NP_000236	P08581	MET_HUMAN	Homo sapiens met proto-oncogene (hepatocyte growth factor receptor) (MET), transcript variant 2, mRNA.	378	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAACAAGATCGTCAACAAAAA	0.433			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116340270	G	A	116340270	3	1	230	1	0	0	0	0	1	0	0	0	9560	1145	40	1	1134	1	MET	7	116340270	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	96	116340270	42798393	47	15887											
KCNH2	3757	broad.mit.edu	37	chr7	150645539	150645539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccgcctcacccttgtcCgtgcgcctgcggaaggacaa	6	7	10	18	4	1	0	1	0	0	0	3	2	3	2	6	2	2	0	6	2	2	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr7:150645539C>T	uc003wic.3	-	10	3086	c.2685G>A	c.(2683-2685)acG>acA	p.T895T	KCNH2_uc003wib.3_Silent_p.T555T|KCNH2_uc011kux.2_Silent_p.T799T	NM_000238	NP_000229	Q12809	KCNH2_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 2 (KCNH2), transcript variant 1, mRNA.	895					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	cacccTTGTCCGTGCGCCTGC	0.672													T	150645539	C	T	150645539	2	4	230	1	0	0	0	0	0	0	0	1	8090	639	23	1		1	KCNH2	7	150645539	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	34305269	150645539	8493124	48	15888											
NEFM	4741	broad.mit.edu	37	chr8	24775127	24775127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagctaaagaggaaaagAaagtggaggaaaagagtgag	20	3	15	3	1	0	4	0	1	0	3	0	8	0	7	1	3	1	1	1	3	8	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:24775127A>G	uc003xed.4	+	2	1792	c.1759A>G	c.(1759-1761)Aaa>Gaa	p.K587E	NEFM_uc011lac.1_Missense_Mutation_p.K587E|NEFM_uc010lue.3_Missense_Mutation_p.K211E	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	587	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		agaggaaaagaaagtggagga	0.493													G	24775127	A	G	24775127	3	3	230	1	0	0	0	0	1	0	0	0	10392	247	9	3	1769	3	NEFM	8	24775127	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		24775127	121588895	49	15889											
UBR5	51366	broad.mit.edu	37	chr8	103297923	103297923	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttgctagcttccaaagCagctgctgcagctgcagcac	8	8	12	13	1	0	0	0	0	0	0	1	0	1	0	1	1	9	10	1	1	2	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:103297923C>G	uc003ykr.2	-	38	5757	c.5302G>C	c.(5302-5304)Gct>Cct	p.A1768P	UBR5_uc003yks.2_Missense_Mutation_p.A1768P	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	1768	Poly-Ala.				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)			GCTTCCAAAGCAGCTGCTGCA	0.468													G	103297923	C	G	103297923	3	3	230	1	0	0	0	0	1	0	0	0	17007	710	25	4	3181	4	UBR5	8	103297923	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	78522796	103297923	43066099	50	15890											
CSMD3	114788	broad.mit.edu	37	chr8	113420584	113420584	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccttagctgttattggTccaactgaagtaaatcgaat	13	13	7	8	1	0	1	0	1	0	0	3	2	2	1	2	1	2	3	2	1	8	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr8:113420584T>C	uc003ynu.3	-	33	5727	c.5568A>G	c.(5566-5568)ggA>ggG	p.G1856G	CSMD3_uc003yns.3_Intron|CSMD3_uc003ynt.3_Silent_p.G1816G|CSMD3_uc011lhx.2_Silent_p.G1752G	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	1856	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTGTTATTGGTCCAACTGAAG	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113420584	T	C	113420584	2	2	230	1	0	0	0	0	0	0	0	1	3979	1654	58	3		3	CSMD3	8	113420584	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	10122661	113420584	32943438	51	15891											
BICD2	23299	broad.mit.edu	37	chr9	95480999	95480999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgcggtccacggctGcctgcaggtgcttgatctgg	3	10	16	12	3	1	1	0	1	1	0	2	1	2	1	3	5	4	3	3	5	0	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr9:95480999G>T	uc004asp.1	-	4	1985	c.1928C>A	c.(1927-1929)gCa>gAa	p.A643E	BICD2_uc004aso.1_Missense_Mutation_p.A643E	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	643					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCACGGCTGCCTGCAGGTG	0.622													T	95480999	G	T	95480999	3	4	230	1	0	0	0	0	1	0	0	0	1435	1319	46	4	661	4	BICD2	9	95480999	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		95480999	45732432	52	15892											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486209	37486209	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctcttttgctttttagAgcctcccgagaagccatctg	9	14	7	11	1	2	2	0	0	2	2	4	3	3	2	3	0	3	1	3	0	3	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:37486209A>G	uc021ppc.1	+	28	2546	c.2447_splice	c.e28-1	p.E816_splice	ANKRD30A_uc001iza.1_Splice_Site_p.E816_splice	NM_052997	NP_443723	Q9BXX3	AN30A_HUMAN	Homo sapiens ankyrin repeat domain 30A (ANKRD30A), mRNA.	872						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGCTTTTTAGAGCCTCCCGAG	0.338													G	37486209	A	G	37486209	3	3	230	1	0	0	0	0	1	0	0	0	658	318	11	3	2557	3	ANKRD30A	10	37486209	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08		37486209	98048538	53	15893											
ARID5B	84159	broad.mit.edu	37	chr10	63816874	63816874	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatattttcccttttccAggtgaaatgtgaggccaggt	8	15	11	7	0	0	2	0	2	0	0	2	2	2	2	3	4	0	1	3	4	3	6			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:63816874A>C	uc001jlt.2	+	6	1303	c.847_splice	c.e6-2	p.V283_splice	ARID5B_uc001jlu.2_Splice_Site_p.V40_splice	NM_032199	NP_115575	Q14865	ARI5B_HUMAN	Homo sapiens AT rich interactive domain 5B (MRF1-like) (ARID5B), transcript variant 1, mRNA.	283					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TCCCTTTTCCAGGTGAAATGT	0.448													C	63816874	A	C	63816874	5	2	230	1	0	0	0	0	0	0	1	0	925	202	7	5	867	5	ARID5B	10	63816874	Splice_Site	SNP	A	TCGA-32-2495-01A-01D-1353-08	26330665	63816874	71717873	54	15894											
PTEN	5728	broad.mit.edu	37	chr10	89717664	89717664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatatattcctccaattcagGacccacacgacgggaagaca	14	7	8	12	2	1	1	1	0	0	1	3	5	3	3	3	2	0	0	3	2	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:89717664G>A	uc001kfb.3	+	6	1721	c.689G>A	c.(688-690)gGa>gAa	p.G230E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	230	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.P231fs*12(1)|p.G230fs*26(1)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.G230E(1)|p.G230R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCAATTCAGGACCCACACGA	0.428		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89717664	G	A	89717664	3	1	230	1	0	0	0	0	1	0	0	0	12823	1174	41	2	715	2	PTEN	10	89717664	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	25900790	89717664	45817083	55	15895											
PDCD4	27250	broad.mit.edu	37	chr10	112655708	112655708	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaatttcattgttgtagggTtatgagagaatttacaatga	13	16	10	2	0	1	3	1	2	0	1	1	4	1	3	0	1	1	4	0	1	6	8			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr10:112655708T>C	uc001kzh.3	+	10	1498	c.1212T>C	c.(1210-1212)ggT>ggC	p.G404G	PDCD4_uc001kzg.3_Silent_p.G393G|PDCD4_uc010qre.2_Silent_p.G390G|PDCD4_uc021pye.1_5'Flank	NM_014456	NP_055271	Q53EL6	PDCD4_HUMAN	Homo sapiens programmed cell death 4 (neoplastic transformation inhibitor) (PDCD4), transcript variant 1, mRNA.	404	MI 2.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TGTTGTAGGGTTATGAGAGAA	0.353													C	112655708	T	C	112655708	2	2	230	1	0	0	0	0	0	0	0	1	11697	1712	60	3		3	PDCD4	10	112655708	Silent	SNP	T	TCGA-32-2495-01A-01D-1353-08	22938044	112655708	22879039	56	15896											
USP47	55031	broad.mit.edu	37	chr11	11969542	11969542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggcagctttcaaacaaCatttagagccctttgttgga	10	13	8	10	0	2	1	1	0	1	1	2	2	2	2	1	2	4	3	1	2	3	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:11969542C>T	uc001mjs.3	+	20	3905	c.3142C>T	c.(3142-3144)Cat>Tat	p.H1048Y	USP47_uc001mjr.3_Missense_Mutation_p.H980Y|USP47_uc009ygi.3_5'Flank	NM_017944	NP_060414	Q96K76	UBP47_HUMAN	Homo sapiens ubiquitin specific peptidase 47 (USP47), mRNA.	1068					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		TTTCAAACAACATTTAGAGCC	0.398													T	11969542	C	T	11969542	3	4	230	1	0	0	0	0	1	0	0	0	17180	478	17	2	3016	2	USP47	11	11969542	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		11969542	123036974	57	15897											
RTN3	10313	broad.mit.edu	37	chr11	63487657	63487657	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagaattggtcagtgaCtctgagctgcatcaagatca	12	12	10	7	0	4	5	3	3	1	2	4	5	4	5	0	1	2	2	0	1	3	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:63487657C>T	uc001nxq.3	+	2	1870	c.1683C>T	c.(1681-1683)gaC>gaT	p.D561D	RTN3_uc001nxp.3_Intron|RTN3_uc009yov.3_Silent_p.D449D|RTN3_uc010rmt.2_Intron|RTN3_uc010rmu.2_Intron|RTN3_uc001nxm.3_Intron|RTN3_uc001nxn.3_Silent_p.D542D|RTN3_uc001nxo.3_Intron	NM_201428	NP_958831	O95197	RTN3_HUMAN	Homo sapiens reticulon 3 (RTN3), transcript variant 2, mRNA.	561					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TGGTCAGTGACTCTGAGCTGC	0.408													T	63487657	C	T	63487657	2	4	230	1	0	0	0	0	0	0	0	1	13818	564	20	2		2	RTN3	11	63487657	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	51518115	63487657	71518859	58	15898											
SLC22A20	440044	broad.mit.edu	37	chr11	64990066	64990067	+	Missense_Mutation	DNP	AG	AG	GT																															aggggaaaggctgaccaaggAggtaagcgagctgggaggaa																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:64990066_64990067AG>GT	uc021qlg.1	+	4	796	c.763_splice	c.e4+1	p.G255_splice	SLC22A20_uc021qlh.1_Splice_Site_p.E94_splice	NM_001004326	NP_001004326	A6NK97	S22AK_HUMAN	Homo sapiens solute carrier family 22, member 20 (SLC22A20), transcript variant 1, mRNA.	0					ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						CTGACCAAGGAGGTAAGCGAGC	0.545													GT	64990067	AG	GT	64990066	3	3	230	1	0	0	0	0	1	0	0	0	14546	318	11	3	776	3	SLC22A20	11	64990066	Missense_Mutation	DNP	AG	TCGA-32-2495-01A-01D-1353-08	1502409	64990066	70016450	59	15899											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088799	65088799	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccctcagccttccccacagGagggagggagtgtggacatc	8	6	13	14	0	1	0	1	0	0	0	3	4	2	4	5	4	1	0	5	4	0	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr11:65088799G>T	uc021qli.1	+	0	430	c.430G>T	c.(430-432)Gag>Tag	p.E144*	CDC42EP2_uc001odl.3_Nonsense_Mutation_p.E144*	NM_006779	NP_006770	O14613	BORG1_HUMAN	Homo sapiens CDC42 effector protein (Rho GTPase binding) 2 (CDC42EP2), mRNA.	144					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						TTCCCCACAGGAGGGAGGGAG	0.667													T	65088799	G	T	65088799	4	4	230	1	0	0	0	0	0	1	0	0	3106	1175	41	4	432	4	CDC42EP2	11	65088799	Nonsense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	98733	65088799	69917717	60	15900											
C1S	716	broad.mit.edu	37	chr12	7177423	7177423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcatgtgtttattcatcCgggatggaagctgctggaag	9	12	14	6	1	1	1	1	1	0	0	2	4	2	4	1	3	3	4	1	3	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:7177423C>T	uc001qsj.3	+	14	2254	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	C1S_uc001qsk.3_Missense_Mutation_p.P512L|C1S_uc001qsl.3_Missense_Mutation_p.P512L|C1S_uc009zfr.3_Missense_Mutation_p.P345L|C1S_uc009zfs.3_Non-coding_Transcript	NM_201442	NP_958850	P09871	C1S_HUMAN	Homo sapiens complement component 1, s subcomponent (C1S), transcript variant 1, mRNA.	512	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity	p.P512L(2)		breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	TTTATTCATCCGGGATGGAAG	0.512													T	7177423	C	T	7177423	3	4	230	1	0	0	0	0	1	0	0	0	1994	652	23	1	1577	1	C1S	12	7177423	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		7177423	126674472	61	15901											
C12orf63	374467	broad.mit.edu	37	chr12	97087506	97087506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttctcctgataggttctgCctctccttgcattgtatcaa	6	18	6	11	0	4	1	1	1	3	0	6	1	4	1	3	1	2	3	3	1	3	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:97087506C>T	uc021rcc.1	+	11	1624	c.1546C>T	c.(1546-1548)Cct>Tct	p.P516S				Q6ZTY8	CL063_HUMAN	RecName: Full=Putative uncharacterized protein C12orf63;	516								p.L515L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(26)|ovary(1)|prostate(2)|skin(11)|stomach(2)	54						ATAGGTTCTGCCTCTCCTTGC	0.289													T	97087506	C	T	97087506	3	4	230	1	0	0	0	0	1	0	0	0	1719	739	26	2	1588	2	C12orf63	12	97087506	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	89910083	97087506	36764389	62	15902											
SELPLG	6404	broad.mit.edu	37	chr12	109017719	109017719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctggttgagtggtcTgtatctccatagctgctgaa	6	14	13	8	0	2	2	0	2	2	0	3	2	2	2	1	3	3	6	1	3	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:109017719T>C	uc010sxe.2	-	1	590	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	SELPLG_uc001tni.3_Missense_Mutation_p.Q122R|SELPLG_uc021rdm.1_Missense_Mutation_p.Q122R|SELPLG_uc001tnh.3_Missense_Mutation_p.Q122R	NM_001206609	NP_001193538	Q14242	SELPL_HUMAN	Homo sapiens selectin P ligand (SELPLG), transcript variant 1, mRNA.	122	12 X 10 AA tandem repeats.		Missing (in short form; not an alternative splicing; dbSNP:rs63748999).		blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						TTGAGTGGTCTGTATCTCCAT	0.602													C	109017719	T	C	109017719	3	2	230	1	0	0	0	0	1	0	0	0	14113	1580	55	3	851	3	SELPLG	12	109017719	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	11930213	109017719	24834176	63	15903											
TPCN1	53373	broad.mit.edu	37	chr12	113729743	113729743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccgaatgaactacagccGcaagaaccaggactcggaag	14	5	10	12	3	0	2	0	1	0	1	2	5	1	4	3	2	4	1	3	2	6	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:113729743G>A	uc001tux.3	+	25	2483	c.2309G>A	c.(2308-2310)cGc>cAc	p.R770H	TPCN1_uc001tuw.3_Missense_Mutation_p.R698H|TPCN1_uc010syu.2_5'Flank	NM_001143819	NP_060371	Q9ULQ1	TPC1_HUMAN	Homo sapiens two pore segment channel 1 (TPCN1), transcript variant 1, mRNA.	698						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						AACTACAGCCGCAAGAACCAG	0.582													A	113729743	G	A	113729743	3	1	230	1	0	0	0	0	1	0	0	0	16496	1087	38	1	2407	1	TPCN1	12	113729743	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4712024	113729743	20122152	64	15904											
KSR2	283455	broad.mit.edu	37	chr12	118198974	118198974	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttcctcatgggcggCgtgcccggcggggtcacggt	2	11	15	13	5	4	0	2	0	2	0	5	0	5	0	2	6	1	0	2	6	0	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:118198974C>T	uc001two.2	-	3	796	c.741G>A	c.(739-741)acG>acA	p.T247T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	276	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATGGGCGGCGTGCCCGGCG	0.706													T	118198974	C	T	118198974	2	4	230	1	0	0	0	0	0	0	0	1	8641	755	27	1		1	KSR2	12	118198974	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	4469231	118198974	15652921	65	15905											
CLIP1	6249	broad.mit.edu	37	chr12	122803873	122803873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgttccattatctgcatgGcatcttccgctgtttgagca	6	16	8	11	1	3	1	0	1	3	0	5	1	5	1	2	1	2	6	2	1	1	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:122803873G>A	uc001ucg.2	-	17	3427	c.3272C>T	c.(3271-3273)gCc>gTc	p.A1091V	CLIP1_uc001uch.1_Missense_Mutation_p.A1080V|CLIP1_uc001uci.1_Missense_Mutation_p.A1045V|CLIP1_uc001ucj.1_Missense_Mutation_p.A666V	NM_001247997	NP_001234926	P30622	CLIP1_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 1 (CLIP1), transcript variant 3, mRNA.	1091					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TATCTGCATGGCATCTTCCGC	0.478													A	122803873	G	A	122803873	3	1	230	1	0	0	0	0	1	0	0	0	3563	1203	42	2	1080	2	CLIP1	12	122803873	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	4604899	122803873	11048022	66	15906											
EP400	57634	broad.mit.edu	37	chr12	132527862	132527862	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcaggccctcaagagtaTtgagtatctggaggaggatg	10	10	13	8	0	3	2	2	1	1	1	4	5	4	5	2	4	0	2	2	4	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr12:132527862T>A	uc001ujn.3	+	32	6373	c.6221T>A	c.(6220-6222)aTt>aAt	p.I2074N	EP400_uc021rgq.1_Missense_Mutation_p.I2073N|EP400_uc001ujm.3_Missense_Mutation_p.I1993N	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	2110					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		CTCAAGAGTATTGAGTATCTG	0.463													A	132527862	T	A	132527862	3	1	230	1	0	0	0	0	1	0	0	0	5190	1493	52	5	6344	5	EP400	12	132527862	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	9723989	132527862	1324033	67	15907											
SLC15A1	6564	broad.mit.edu	37	chr13	99356577	99356577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcccacactagaagcGtgtggcgttggccctgcttg	5	9	16	11	2	0	1	0	0	0	1	0	1	0	1	2	4	2	2	2	4	2	3	rs141206459		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr13:99356577G>A	uc001vno.3	-	16	1459	c.1382C>T	c.(1381-1383)aCg>aTg	p.T461M		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	461					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CACTAGAAGCGTGTGGCGTTG	0.453													A	99356577	G	A	99356577	3	1	230	1	0	0	0	0	1	0	0	0	14492	1145	40	1	772	1	SLC15A1	13	99356577	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		99356577	15813301	68	15908											
OR11H12	440153	broad.mit.edu	37	chr14	19378103	19378103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggtttgtggatttctgtgGttcctgatccccattgttct	3	19	11	8	0	2	1	0	1	2	0	4	2	4	2	3	3	0	3	3	3	0	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:19378103G>T	uc010tkp.2	+	0	510	c.510G>T	c.(508-510)tgG>tgT	p.W170C		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GATTTCTGTGGTTCCTGATCC	0.483													T	19378103	G	T	19378103	3	4	230	1	0	0	0	0	1	0	0	0	11003	1270	44	4	512	4	OR11H12	14	19378103	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		19378103	87971437	69	15909											
OR4Q3	441669	broad.mit.edu	37	chr14	20216022	20216022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagctatgcctttggttgGttcttgcctgctggtgtggg	2	15	14	10	0	1	0	0	0	1	0	1	0	1	0	3	4	4	4	3	4	1	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:20216022G>T	uc010tkt.2	+	0	436	c.436G>T	c.(436-438)Gtt>Ttt	p.V146F		NM_172194	NP_751944	Q8NH05	OR4Q3_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily Q, member 3 (OR4Q3), mRNA.	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CCTTTGGTTGGTTCTTGCCTG	0.488													T	20216022	G	T	20216022	3	4	230	1	0	0	0	0	1	0	0	0	11157	1261	44	4	438	4	OR4Q3	14	20216022	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	837919	20216022	87133518	70	15910											
KHNYN	23351	broad.mit.edu	37	chr14	24901649	24901649	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcagcagggcatggcacgGggtcgggggcctcaatggaa	10	4	18	9	2	1	0	1	0	0	0	2	1	1	1	1	7	2	4	1	7	3	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:24901649G>C	uc010tpc.2	+	2	1321	c.1305G>C	c.(1303-1305)cgG>cgC	p.R435R	KHNYN_uc001wph.4_Silent_p.R394R|KHNYN_uc010alw.3_Silent_p.R394R|CBLN3_uc001wpg.4_5'Flank	NM_015299	NP_056114	O15037	KHNYN_HUMAN	Homo sapiens KH and NYN domain containing (KHNYN), mRNA.	394										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCATGGCACGGGGTCGGGGGC	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	24901649	G	C	24901649	2	2	230	1	0	0	0	0	0	0	0	1	8208	1219	43	4		4	KHNYN	14	24901649	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	4685627	24901649	82447891	71	15911											
MARK3	4140	broad.mit.edu	37	chr14	103933475	103933475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatctcttagtaagatgAaatacgatgaaatcacagct	18	10	7	6	1	2	4	1	2	1	2	3	5	2	4	0	0	2	2	0	0	7	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr14:103933475A>C	uc001ymz.4	+	10	1723	c.1057A>C	c.(1057-1059)Aaa>Caa	p.K353Q	MARK3_uc001ymx.4_Missense_Mutation_p.K353Q|MARK3_uc001ymw.4_Missense_Mutation_p.K353Q|MARK3_uc001yna.4_Missense_Mutation_p.K353Q|MARK3_uc001ymy.4_Missense_Mutation_p.K274Q|MARK3_uc010awp.3_Missense_Mutation_p.K376Q|MARK3_uc010tyb.2_Missense_Mutation_p.K164Q	NM_001128918	NP_001122390	P27448	MARK3_HUMAN	Homo sapiens MAP/microtubule affinity-regulating kinase 3 (MARK3), transcript variant 1, mRNA.	353	UBA.						ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TAGTAAGATGAAATACGATGA	0.328													C	103933475	A	C	103933475	3	2	230	1	0	0	0	0	1	0	0	0	9389	247	9	5	1099	5	MARK3	14	103933475	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	79031826	103933475	3416065	72	15912											
C15orf2	23742	broad.mit.edu	37	chr15	24924482	24924482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtctgtttccaacttccGtaagagcacctgtggttcac	8	13	8	12	1	2	1	1	0	1	1	4	1	4	1	3	1	2	4	3	1	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr15:24924482G>A	uc001ywo.3	+	0	3942	c.3468G>A	c.(3466-3468)ccG>ccA	p.P1156P		NM_018958	NP_061831	Q9NZP6	CO002_HUMAN	Homo sapiens chromosome 15 open reading frame 2 (C15orf2), mRNA.	1156					cell differentiation|multicellular organismal development|spermatogenesis			p.P1156P(2)|p.L1155F(1)|p.P1156Q(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(1)|large_intestine(28)|lung(77)|ovary(5)|pancreas(1)|skin(8)	140		all_cancers(20;2.14e-21)|all_epithelial(15;4.77e-19)|Lung NSC(15;1.43e-14)|all_lung(15;9.57e-14)|Breast(32;0.00086)		all cancers(64;3.19e-24)|Epithelial(43;2.67e-17)|GBM - Glioblastoma multiforme(186;7.36e-07)|BRCA - Breast invasive adenocarcinoma(123;0.000273)|Lung(196;0.229)		TCCAACTTCCGTAAGAGCACC	0.423													A	24924482	G	A	24924482	2	1	230	1	0	0	0	0	0	0	0	1	1797	1132	40	1		1	C15orf2	15	24924482	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08		24924482	77606910	73	15913											
GRIN2A	2903	broad.mit.edu	37	chr16	10032404	10032404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggaagaaggtagacgtcGgatcctgccagtgaaaagaa	15	6	13	7	2	0	4	0	1	0	3	2	6	1	6	2	3	1	1	2	3	6	1	rs142566406		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:10032404G>A	uc010uym.2	-	3	729	c.419C>T	c.(418-420)cCg>cTg	p.P140L	GRIN2A_uc002czo.4_Missense_Mutation_p.P140L|GRIN2A_uc010uyn.2_5'UTR|GRIN2A_uc002czr.4_Missense_Mutation_p.P140L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	140					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGTAGACGTCGGATCCTGCCA	0.478													A	10032404	G	A	10032404	3	1	230	1	0	0	0	0	1	0	0	0	6834	1116	39	1	4019	1	GRIN2A	16	10032404	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08		10032404	80322349	74	15914											
MYH11	4629	broad.mit.edu	37	chr16	15811149	15811149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcgagctgctgccgggcactCtcattcttctgggccgtgct	3	12	12	14	3	3	0	1	0	3	0	5	1	3	0	2	2	4	4	2	2	0	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:15811149C>G	uc002ddx.3	-	38	5480	c.5373G>C	c.(5371-5373)gaG>gaC	p.E1791D	MYH11_uc002ddv.3_Missense_Mutation_p.E1791D|MYH11_uc002ddw.3_Missense_Mutation_p.E1784D|MYH11_uc002ddy.3_Missense_Mutation_p.E1784D|MYH11_uc010bvg.3_Missense_Mutation_p.E1616D|NDE1_uc010uzy.2_Intron|NDE1_uc002dds.3_Intron|MYH11_uc010bvh.3_Missense_Mutation_p.E490D	NM_001040114	NP_001035203	P35749	MYH11_HUMAN	Homo sapiens myosin, heavy chain 11, smooth muscle (MYH11), transcript variant SM1B, mRNA.	1784					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGGGCACTCTCATTCTTCT	0.647			T	CBFB	AML								G	15811149	C	G	15811149	3	3	230	1	0	0	0	0	1	0	0	0	10107	912	32	4	617	4	MYH11	16	15811149	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5778745	15811149	74543604	75	15915											
DNAH3	55567	broad.mit.edu	37	chr16	20952865	20952865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccaactcctcaaccacttCcttaaaatgcaggcagaaga	14	8	6	13	0	1	2	1	0	0	2	3	2	3	2	4	1	4	2	4	1	5	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:20952865C>T	uc010vbe.2	-	59	11512	c.11512_splice	c.e59-1	p.E3838_splice	DNAH3_uc010vbd.2_Splice_Site_p.E1273_splice	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	3838					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TCAACCACTTCCTTAAAATGC	0.453													T	20952865	C	T	20952865	3	4	230	1	0	0	0	0	1	0	0	0	4642	869	30	2	853	2	DNAH3	16	20952865	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5141716	20952865	69401888	76	15916											
OTOA	146183	broad.mit.edu	37	chr16	21698929	21698929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagccagacatcacagagCggctccctcgggacctgcgc	8	5	11	17	3	1	2	1	0	0	2	4	3	3	3	4	2	3	1	4	2	0	0	rs148114778		TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:21698929C>T	uc002djh.3	+	6	596	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.R120W	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	199					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATCACAGAGCGGCTCCCTCG	0.532													T	21698929	C	T	21698929	3	4	230	1	0	0	0	0	1	0	0	0	11378	759	27	1	655	1	OTOA	16	21698929	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	746064	21698929	68655824	77	15917											
SETD1A	9739	broad.mit.edu	37	chr16	30975479	30975479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcaggcaccactgcggtggGcactcctggcaacggcaccc	8	4	13	16	2	0	0	0	0	0	0	1	0	1	0	3	5	3	5	3	5	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr16:30975479G>A	uc002ead.1	+	5	1390	c.704G>A	c.(703-705)gGc>gAc	p.G235D	SETD1A_uc002eae.1_Missense_Mutation_p.G235D	NM_014712	NP_055527	O15047	SET1A_HUMAN	Homo sapiens SET domain containing 1A (SETD1A), mRNA.	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	p.V234M(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTGCGGTGGGCACTCCTGGC	0.627													A	30975479	G	A	30975479	3	1	230	1	0	0	0	0	1	0	0	0	14223	1203	42	2	722	2	SETD1A	16	30975479	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9276550	30975479	59379274	78	15918											
ARHGEF15	22899	broad.mit.edu	37	chr17	8219094	8219094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttctagcaacgctcctgtcCcgtgtgcgctcttcccccca	4	12	7	18	3	2	0	0	0	2	0	5	0	5	0	5	0	3	3	5	0	2	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:8219094C>T	uc002glc.3	+	7	1598	c.1443C>T	c.(1441-1443)tcC>tcT	p.S481S	ARHGEF15_uc002gld.3_Silent_p.S481S|ARHGEF15_uc010vuw.2_Silent_p.S370S	NM_173728	NP_776089	O94989	ARHGF_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 15 (ARHGEF15), transcript variant 1, mRNA.	481	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CGCTCCTGTCCCGTGTGCGCT	0.582													T	8219094	C	T	8219094	2	4	230	1	0	0	0	0	0	0	0	1	901	610	22	2		2	ARHGEF15	17	8219094	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08		8219094	72976116	79	15919											
RNF112	7732	broad.mit.edu	37	chr17	19316608	19316608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagtctggtgagggcGgccggccaagaggaggagag	9	4	21	7	2	1	3	0	1	1	2	1	6	1	5	2	7	1	1	2	7	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:19316608G>A	uc010vyw.2	+	4	835	c.604G>A	c.(604-606)Ggc>Agc	p.G202S	RNF112_uc010vyu.2_3'UTR|RNF112_uc021tsa.1_Non-coding_Transcript|RNF112_uc010vyx.1_Missense_Mutation_p.G85S	NM_007148	NP_009079	Q7Z5V9	Q7Z5V9_HUMAN	Homo sapiens ring finger protein 112 (RNF112), mRNA.	202							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						TGGTGAGGGCGGCCGGCCAAG	0.652													A	19316608	G	A	19316608	3	1	230	1	0	0	0	0	1	0	0	0	13517	1116	39	1	332	1	RNF112	17	19316608	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	11097514	19316608	61878602	80	15920											
KRT37	8688	broad.mit.edu	37	chr17	39580498	39580498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtgtttttgccgtaggccCcacagattccgatgttgccg	5	12	13	11	3	0	1	0	0	0	1	1	2	1	1	5	2	2	3	5	2	1	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:39580498C>T	uc002hwp.1	-	0	325	c.278G>A	c.(277-279)gGg>gAg	p.G93E		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	93	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GCCGTAGGCCCCACAGATTCC	0.602													T	39580498	C	T	39580498	3	4	230	1	0	0	0	0	1	0	0	0	8532	623	22	2	1099	2	KRT37	17	39580498	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	20263890	39580498	41614712	81	15921											
TRIM65	201292	broad.mit.edu	37	chr17	73887344	73887344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgggccccgggactgaCgacagtgcttcacctgctgg	5	7	14	15	3	1	1	1	1	0	0	1	3	1	2	4	3	2	2	4	3	0	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr17:73887344C>T	uc002jpx.3	-	5	1106	c.1070G>A	c.(1069-1071)cGt>cAt	p.R357H		NM_173547	NP_775818	Q6PJ69	TRI65_HUMAN	Homo sapiens tripartite motif containing 65 (TRIM65), transcript variant 1, mRNA.	357	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCGGGACTGACGACAGTGCTT	0.627													T	73887344	C	T	73887344	3	4	230	1	0	0	0	0	1	0	0	0	16640	536	19	1	487	1	TRIM65	17	73887344	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	34306846	73887344	7307866	82	15922											
SMCHD1	23347	broad.mit.edu	37	chr18	2770043	2770044	+	Frame_Shift_Del	DEL	CA	CA	-																															aagaaaaggaccaattatctCagtctattgttatgtataaa																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:2770043_2770044delCA	uc002klm.4	+	38	5092_5093	c.4903_4904delCA	c.(4903-4905)cagfs	p.Q1635fs	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1635					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CCAATTATCTCAGTCTATTGTT	0.277													-	2770044	CA	-	2770043	7	5	230	1	0	1	0	1	0	0	0	0	14882	827	29	0	5057	0	SMCHD1	18	2770043	Frame_Shift_Del	DEL	CA	TCGA-32-2495-01A-01D-1353-08		2770043	75307205	83	15923											
ZNF519	162655	broad.mit.edu	37	chr18	14105942	14105942	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaatatggatattttcAgggaaaataagctttgagga	14	15	10	2	0	1	2	1	2	0	0	1	5	1	5	0	3	1	1	0	3	6	8			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:14105942A>G	uc002kst.2	-	2	810	c.597T>C	c.(595-597)ccT>ccC	p.P199P	ZNF519_uc002ksr.2_Intron|ZNF519_uc002ksq.2_Intron	NM_145287	NP_660330	Q8TB69	ZN519_HUMAN	Homo sapiens zinc finger protein 519 (ZNF519), transcript variant 1, mRNA.	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GGATATTTTCAGGGAAAATAA	0.284													G	14105942	A	G	14105942	2	3	230	1	0	0	0	0	0	0	0	1	18065	175	7	3		3	ZNF519	18	14105942	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08	11335899	14105942	63971306	84	15924											
ELP2	55250	broad.mit.edu	37	chr18	33740957	33740957	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaaagactctgcttgcctCagcttgtaaggtagggaagt	10	12	11	8	0	3	1	2	0	1	1	3	2	3	2	1	2	3	4	1	2	4	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:33740957C>G	uc010xcg.2	+	17	2006	c.1946C>G	c.(1945-1947)tCa>tGa	p.S649*	ELP2_uc002kzk.2_Nonsense_Mutation_p.S584*|ELP2_uc002kzl.2_Non-coding_Transcript|ELP2_uc002kzm.2_Nonsense_Mutation_p.S558*|ELP2_uc010xch.2_Nonsense_Mutation_p.S579*|ELP2_uc002kzn.2_Nonsense_Mutation_p.S514*|ELP2_uc002kzo.2_Nonsense_Mutation_p.S514*	NM_001242875	NP_001229804	Q6IA86	ELP2_HUMAN	Homo sapiens elongation protein 2 homolog (S. cerevisiae) (ELP2), transcript variant 1, mRNA.	584					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CTGCTTGCCTCAGCTTGTAAG	0.363													G	33740957	C	G	33740957	4	3	230	1	0	0	0	0	0	1	0	0	5121	838	29	4	1817	4	ELP2	18	33740957	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	19635015	33740957	44336291	85	15925											
RTTN	25914	broad.mit.edu	37	chr18	67684705	67684705	+	Frame_Shift_Del	DEL	G	G	-																															cattatgaaagataagaagaGgcaataaagggctgctcttg																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67684705delG	uc002lkp.2	-	45	6427	c.6359delC	c.(6358-6360)cctfs	p.P2120fs	RTTN_uc002lko.2_Non-coding_Transcript|RTTN_uc010xfb.1_Frame_Shift_Del_p.P1208fs|RTTN_uc002lkn.2_Frame_Shift_Del_p.P110fs|RTTN_uc010dqp.2_Frame_Shift_Del_p.P372fs	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	2120							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GATAAGAAGAGGCAATAAAGG	0.388													-	67684705	G	-	67684705	7	5	230	1	0	1	0	1	0	0	0	0	13828	1000	35	0	337	0	RTTN	18	67684705	Frame_Shift_Del	DEL	G	TCGA-32-2495-01A-01D-1353-08	33943748	67684705	10392543	86	15926											
RTTN	25914	broad.mit.edu	37	chr18	67871471	67871471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactctactgcaccaacgTcaaccaaatgttggactgct	13	9	7	12	1	2	1	1	0	1	1	2	2	2	2	2	1	6	3	2	1	5	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:67871471T>C	uc002lkp.2	-	2	316	c.248A>G	c.(247-249)gAc>gGc	p.D83G	RTTN_uc010xfb.1_5'UTR|RTTN_uc002lkq.1_Missense_Mutation_p.D83G	NM_173630	NP_775901	Q86VV8	RTTN_HUMAN	Homo sapiens rotatin (RTTN), mRNA.	83							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TGCACCAACGTCAACCAAATG	0.388													C	67871471	T	C	67871471	3	2	230	1	0	0	0	0	1	0	0	0	13828	1667	58	3	6620	3	RTTN	18	67871471	Missense_Mutation	SNP	T	TCGA-32-2495-01A-01D-1353-08	186766	67871471	10205777	87	15927											
NFATC1	4772	broad.mit.edu	37	chr18	77246687	77246687	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaacactcgctctgcccCagcagcccctctcctccact	6	8	5	22	2	2	0	0	0	2	0	6	1	3	0	6	0	4	2	6	0	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77246687C>T	uc010xfg.2	+	8	2985	c.2532C>T	c.(2530-2532)ccC>ccT	p.P844P	NFATC1_uc002lnd.3_Intron|NFATC1_uc002lne.3_Intron|NFATC1_uc010xfh.2_Intron|NFATC1_uc010xfj.2_Silent_p.P372P|NFATC1_uc002lnf.3_Silent_p.P831P|NFATC1_uc002lng.3_Intron|NFATC1_uc010xfk.2_Intron	NM_006162	NP_006153	O95644	NFAC1_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1 (NFATC1), transcript variant 2, mRNA.	844	Trans-activation domain B (TAD-B).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CGCTCTGCCCCAGCAGCCCCT	0.751													T	77246687	C	T	77246687	2	4	230	1	0	0	0	0	0	0	0	1	10437	581	21	2		2	NFATC1	18	77246687	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	9375216	77246687	830561	88	15928											
PQLC1	80148	broad.mit.edu	37	chr18	77679330	77679330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtagcccgccacgccCgtgaaggccaggacgcactg	8	5	14	14	4	0	2	0	2	0	0	0	3	0	3	4	2	1	2	4	2	2	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr18:77679330C>T	uc002lnl.2	-	4	634	c.462G>A	c.(460-462)acG>acA	p.T154T	PQLC1_uc010dre.2_Silent_p.T71T|PQLC1_uc002lnk.2_Silent_p.T136T|PQLC1_uc010xfm.1_Intron	NM_025078	NP_079354	Q8N2U9	PQLC1_HUMAN	Homo sapiens PQ loop repeat containing 1 (PQLC1), transcript variant 1, mRNA.	154						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	9		Esophageal squamous(42;0.0212)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;8.2e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0258)		CCGCCACGCCCGTGAAGGCCA	0.627													T	77679330	C	T	77679330	2	4	230	1	0	0	0	0	0	0	0	1	12500	639	23	1		1	PQLC1	18	77679330	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	432643	77679330	397918	89	15929											
FBN3	84467	broad.mit.edu	37	chr19	8176044	8176044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgttgtcacagaggtccaCgttctcggcacattcatccc	7	10	8	16	3	3	1	2	0	1	1	6	1	5	1	3	2	0	3	3	2	0	3	rs117092804	by1000genomes	TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8176044C>T	uc002mjf.3	-	31	4125	c.4108G>A	c.(4108-4110)Gtg>Atg	p.V1370M		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1370	EGF-like 21; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.N1369N(1)		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						CAGAGGTCCACGTTCTCGGCA	0.657													T	8176044	C	T	8176044	3	4	230	1	0	0	0	0	1	0	0	0	5753	536	19	1	4449	1	FBN3	19	8176044	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08		8176044	50952939	90	15930											
FBN3	84467	broad.mit.edu	37	chr19	8201272	8201272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctggccgcggctcacCaatgcactcgccgcgcacgt	6	6	10	19	6	1	0	1	0	0	0	3	0	2	0	5	2	1	3	5	2	1	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:8201272C>T	uc002mjf.3	-	10	1362	c.1345_splice	c.e10+1	p.D449_splice		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	449	EGF-like 4; 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						CGCGGCTCACCAATGCACTCG	0.652													T	8201272	C	T	8201272	3	4	230	1	0	0	0	0	1	0	0	0	5753	608	21	2	7300	2	FBN3	19	8201272	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	25228	8201272	50927711	91	15931											
RDH8	50700	broad.mit.edu	37	chr19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaggggaagcttctggCgcaggtttctatggctgagt	6	13	16	6	1	2	2	0	2	2	0	2	3	2	3	0	5	1	5	0	5	2	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:10131987C>T	uc002mmr.3	+	4	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	198					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602													T	10131987	C	T	10131987	3	4	230	1	0	0	0	0	1	0	0	0	13284	768	27	1	611	1	RDH8	19	10131987	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	1930715	10131987	48996996	92	15932											
OR10H5	284433	broad.mit.edu	37	chr19	15905052	15905052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgtacctcttcctgtgtgCcctctccatcaccgagatcc	6	12	6	17	1	3	1	1	0	2	1	6	2	5	1	6	0	2	1	6	0	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:15905052C>T	uc010xos.2	+	0	194	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_001004466	NP_001004466	Q8NGA6	O10H5_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily H, member 5 (OR10H5), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TTCCTGTGTGCCCTCTCCATC	0.627													T	15905052	C	T	15905052	3	4	230	1	0	0	0	0	1	0	0	0	10985	739	26	2	196	2	OR10H5	19	15905052	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	5773065	15905052	43223931	93	15933											
TMEM59L	25789	broad.mit.edu	37	chr19	18724803	18724803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaagctccaagcccaatgCcacccaaactgagtgtgaag	14	5	9	13	0	0	3	0	2	0	1	1	3	1	3	4	0	4	1	4	0	5	0			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:18724803C>T	uc010ebu.1	+	1	380	c.293C>T	c.(292-294)gCc>gTc	p.A98V	TMEM59L_uc002njy.4_Missense_Mutation_p.A98V	NM_012109	NP_036241	Q9UK28	TM59L_HUMAN	Homo sapiens transmembrane protein 59-like (TMEM59L), mRNA.	98						Golgi membrane|integral to membrane|membrane fraction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(2)	13						AAGCCCAATGCCACCCAAACT	0.652													T	18724803	C	T	18724803	3	4	230	1	0	0	0	0	1	0	0	0	16286	739	26	2	299	2	TMEM59L	19	18724803	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	2819751	18724803	40404180	94	15934											
TSHZ3	57616	broad.mit.edu	37	chr19	31767776	31767776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcgttacaaaagaagaCggggtggccagtgtccaagt	14	7	12	8	2	0	2	0	0	0	2	2	2	1	2	2	3	1	1	2	3	6	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:31767776C>T	uc002nsy.4	-	1	2988	c.2923G>A	c.(2923-2925)Gtc>Atc	p.V975I		NM_020856	NP_065907	Q63HK5	TSH3_HUMAN	Homo sapiens teashirt zinc finger homeobox 3 (TSHZ3), mRNA.	975					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					CAAAAGAAGACGGGGTGGCCA	0.512													T	31767776	C	T	31767776	3	4	230	1	0	0	0	0	1	0	0	0	16726	536	19	1	326	1	TSHZ3	19	31767776	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	13042973	31767776	27361207	95	15935											
RYR1	6261	broad.mit.edu	37	chr19	38990563	38990563	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctttggtgaggaaccGcctgaagaaaaccgggtgca	11	7	14	9	2	0	3	0	2	0	1	0	4	0	4	3	3	5	3	3	3	4	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:38990563G>A	uc002oit.3	+	44	7360	c.7230G>A	c.(7228-7230)ccG>ccA	p.P2410P	RYR1_uc002oiu.3_Silent_p.P2410P|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2410	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTGAGGAACCGCCTGAAGAAA	0.632													A	38990563	G	A	38990563	2	1	230	1	0	0	0	0	0	0	0	1	13859	1074	38	1		1	RYR1	19	38990563	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	7222787	38990563	20138420	96	15936											
PVRL2	5819	broad.mit.edu	37	chr19	45389216	45389216	+	Frame_Shift_Del	DEL	A	A	-																															tggagggacctccctcctacAagccaccaaccccaaaagcg																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:45389216delA	uc002ozw.1	+	6	1609	c.1219delA	c.(1219-1221)aagfs	p.K407fs		NM_001042724	NP_001036189	Q92692	PVRL2_HUMAN	Homo sapiens poliovirus receptor-related 2 (herpesvirus entry mediator B) (PVRL2), transcript variant delta, mRNA.	407					adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCTCCTACAAGCCACCAAC	0.602													-	45389216	A	-	45389216	7	5	230	1	0	1	0	1	0	0	0	0	12928	131	5	0	1647	0	PVRL2	19	45389216	Frame_Shift_Del	DEL	A	TCGA-32-2495-01A-01D-1353-08	6398653	45389216	13739767	97	15937											
FUT1	2523	broad.mit.edu	37	chr19	49253750	49253750	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttacaccactccatgccGttgctggtgaccacgaaaac	10	10	7	14	2	1	1	0	1	1	0	2	2	2	1	4	1	4	2	4	1	3	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:49253750G>A	uc002pkk.3	-	3	1764	c.789C>T	c.(787-789)aaC>aaT	p.N263N	FUT1_uc021uwy.1_Silent_p.N263N	NM_000148	NP_000139	P19526	FUT1_HUMAN	Homo sapiens fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group) (FUT1), mRNA.	263					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		ACTCCATGCCGTTGCTGGTGA	0.617													A	49253750	G	A	49253750	2	1	230	1	0	0	0	0	0	0	0	1	6153	1136	40	1		1	FUT1	19	49253750	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	3864534	49253750	9875233	98	15938											
ZNF528	84436	broad.mit.edu	37	chr19	52918768	52918768	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagtgaatgtggcaaggtCtttagttgcagttcaaagct	10	13	12	6	0	2	1	1	1	1	0	2	1	2	1	0	2	3	6	0	2	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:52918768C>G	uc002pzh.3	+	6	1089	c.663C>G	c.(661-663)gtC>gtG	p.V221V	ZNF528_uc002pzi.3_5'UTR	NM_032423	NP_115799	Q3MIS6	ZN528_HUMAN	Homo sapiens zinc finger protein 528 (ZNF528), mRNA.	221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GTGGCAAGGTCTTTAGTTGCA	0.413													G	52918768	C	G	52918768	2	3	230	1	0	0	0	0	0	0	0	1	18070	900	32	4		4	ZNF528	19	52918768	Silent	SNP	C	TCGA-32-2495-01A-01D-1353-08	3665018	52918768	6210215	99	15939											
KIR3DL2	3809	broad.mit.edu	37	chr19	55349278	55349278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacggttctgttcctcaCtccccctatcagttgtcagc	5	14	7	15	1	4	0	3	0	1	0	6	0	6	0	3	1	3	4	3	1	2	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:55349278C>A	uc002qhm.1	+	2	364	c.318C>A	c.(316-318)caC>caA	p.H106Q	KIR3DL2_uc010yfj.2_Missense_Mutation_p.H99Q|KIR3DL2_uc010yfk.1_Non-coding_Transcript|KIR3DL2_uc002qhl.4_Intron|KIR3DL2_uc010esg.1_Missense_Mutation_p.H106Q|KIR3DL2_uc002qhn.1_Missense_Mutation_p.H53Q	NM_012314	NP_036446	P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 4 (KIR2DS4), mRNA.	201					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		CTGTTCCTCACTCCCCCTATC	0.512													A	55349278	C	A	55349278	3	1	230	1	0	0	0	0	1	0	0	0	8379	564	20	4		4	KIR3DL2	19	55349278	Missense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	2430510	55349278	3779705	100	15940											
ZNF274	10782	broad.mit.edu	37	chr19	58723892	58723892	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaaattcctcctagaaaaCgattgcgcaaacgtgactca	16	8	6	11	3	1	2	1	1	0	1	3	3	3	2	2	0	3	1	2	0	6	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr19:58723892C>T	uc002qrq.1	+	8	1801	c.1342C>T	c.(1342-1344)Cga>Tga	p.R448*	ZNF274_uc002qrr.1_Nonsense_Mutation_p.R416*|ZNF274_uc002qrs.1_Nonsense_Mutation_p.R343*|ZNF274_uc010eum.1_Nonsense_Mutation_p.R208*	NM_133502	NP_598009	Q96GC6	ZN274_HUMAN	Homo sapiens zinc finger protein 274 (ZNF274), transcript variant ZNF274c, mRNA.	449					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCTAGAAAACGATTGCGCAA	0.428													T	58723892	C	T	58723892	4	4	230	1	0	0	0	0	0	1	0	0	17910	528	19	1	1370	1	ZNF274	19	58723892	Nonsense_Mutation	SNP	C	TCGA-32-2495-01A-01D-1353-08	3374614	58723892	405091	101	15941											
WFDC11	259239	broad.mit.edu	37	chr20	44278019	44278020	+	Missense_Mutation	DNP	TT	TT	AA																															tttggctttccccagcattcTtcaagtaacaattccttccc																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr20:44278019_44278020TT>AA	uc002xpa.3	-	3	314_315	c.119_120AA>TT	c.(118-120)gaa>gTT	p.E40V		NM_147197	NP_671730	Q8NEX6	WFD11_HUMAN	Homo sapiens WAP four-disulfide core domain 11 (WFDC11), mRNA.	40						extracellular region				endometrium(1)|lung(4)	5		Myeloproliferative disorder(115;0.0122)				CCCAGCATTCTTCAAGTAACAA	0.391													AA	44278020	TT	AA	44278019	3	1	230	1	0	0	0	0	1	0	0	0	17451	1606	56	5	151	5	WFDC11	20	44278019	Missense_Mutation	DNP	TT	TCGA-32-2495-01A-01D-1353-08		44278019	18747501	102	15942											
KRTAP6-2	337967	broad.mit.edu	37	chr21	31971188	31971188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttccgtagtagctgccGcacatcgtgatggttgtgga	7	13	13	8	3	0	1	0	1	0	0	2	2	1	2	2	2	2	6	2	2	3	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:31971188G>A	uc011adc.2	-	0	6	c.6C>T	c.(4-6)tgC>tgT	p.C2C	KRTAP22-1_uc011add.2_5'Flank	NM_181604	NP_853635	Q3LI66	KRA62_HUMAN	Homo sapiens keratin associated protein 6-2 (KRTAP6-2), mRNA.	2						intermediate filament		p.C2C(4)		endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						AGTAGCTGCCGCACATCGTGA	0.512													A	31971188	G	A	31971188	2	1	230	1	0	0	0	0	0	0	0	1	8629	1079	38	1		1	KRTAP6-2	21	31971188	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08		31971188	16158707	103	15943											
DSCR6	53820	broad.mit.edu	37	chr21	38380461	38380461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcttgccgttccagccccGcgccgtggcgaccttggatc	3	8	13	17	6	0	0	0	0	0	0	2	2	1	1	6	2	2	2	6	2	0	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:38380461G>A	uc002yvv.3	+	1	319	c.109G>A	c.(109-111)Gcg>Acg	p.A37T	DSCR6_uc011aec.2_5'UTR|DSCR6_uc010gnd.3_5'UTR	NM_018962	NP_061835	P57055	DSCR6_HUMAN	Homo sapiens Down syndrome critical region gene 6 (DSCR6), mRNA.	37						nucleus				NS(1)|breast(1)|kidney(2)|lung(3)|upper_aerodigestive_tract(1)	8		Myeloproliferative disorder(46;0.0632)				TTCCAGCCCCGCGCCGTGGCG	0.582													A	38380461	G	A	38380461	3	1	230	1	0	0	0	0	1	0	0	0	4812	1087	38	1	115	1	DSCR6	21	38380461	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	6409273	38380461	9749434	104	15944											
MCM3AP	8888	broad.mit.edu	37	chr21	47662773	47662773	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcttgttcccacgacAaaggaacatcatattttttc	11	13	6	11	1	1	0	1	0	0	0	3	2	2	1	2	2	1	2	2	2	3	6			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr21:47662773A>C	uc002zir.1	-	24	5405	c.5369T>G	c.(5368-5370)tTg>tGg	p.L1790W	MCM3AP-AS1_uc002zim.2_Intron|MCM3AP-AS1_uc002zin.2_Intron|MCM3AP_uc002zio.1_Missense_Mutation_p.L285W|MCM3AP_uc002zip.1_Missense_Mutation_p.L531W|MCM3AP_uc002ziq.1_Missense_Mutation_p.L717W|MCM3AP-AS1_uc002zis.1_Intron	NM_003906	NP_003897	O60318	MCM3A_HUMAN	Homo sapiens minichromosome maintenance complex component 3 associated protein (MCM3AP), mRNA.	1790					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTCCCACGACAAAGGAACATC	0.403													C	47662773	A	C	47662773	3	2	230	1	0	0	0	0	1	0	0	0	9463	131	5	5	589	5	MCM3AP	21	47662773	Missense_Mutation	SNP	A	TCGA-32-2495-01A-01D-1353-08	9282312	47662773	467122	105	15945											
HSCB	150274	broad.mit.edu	37	chr22	29147228	29147228	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaatggttttctttttcaGctaaacagaaagaatttact	14	15	6	6	0	2	3	1	0	1	3	2	3	2	3	0	1	3	2	0	1	6	7			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chr22:29147228G>A	uc003aea.3	+	5	610	c.569_splice	c.e5-1	p.A190_splice		NM_172002	NP_741999	Q8IWL3	HSC20_HUMAN	Homo sapiens HscB iron-sulfur cluster co-chaperone homolog (E. coli) (HSCB), mRNA.	190					iron-sulfur cluster assembly|protein folding	mitochondrion	chaperone binding|heat shock protein binding|metal ion binding			kidney(1)|lung(2)|skin(1)	4						TTCTTTTTCAGCTAAACAGAA	0.299													A	29147228	G	A	29147228	5	1	230	1	0	0	0	0	0	0	1	0	7429	985	34	2	586	2	HSCB	22	29147228	Splice_Site	SNP	G	TCGA-32-2495-01A-01D-1353-08		29147228	22157338	106	15946											
ARSH	347527	broad.mit.edu	37	chrX	2933417	2933417	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcatgctgaaggaggcActtgctttcattgaaaggta	10	12	10	9	0	2	2	2	2	0	0	3	3	3	3	1	3	2	4	1	3	3	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:2933417A>G	uc011mhj.2	+	3	747	c.747A>G	c.(745-747)gcA>gcG	p.A249A		NM_001011719	NP_001011719	Q5FYA8	ARSH_HUMAN	Homo sapiens arylsulfatase family, member H (ARSH), mRNA.	249						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGAAGGAGGCACTTGCTTTCA	0.398													G	2933417	A	G	2933417	2	3	230	1	0	0	0	0	0	0	0	1	998	146	6	3		3	ARSH	23	2933417	Silent	SNP	A	TCGA-32-2495-01A-01D-1353-08		2933417	152337143	107	15947											
FRMPD4	9758	broad.mit.edu	37	chrX	12736450	12736450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttagataacccagaggacGctgactcgtccacctgcgac	11	7	9	14	3	0	3	0	1	0	2	2	5	1	4	3	1	2	1	3	1	2	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:12736450G>A	uc004cuz.2	+	15	4011	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	FRMPD4_uc011mij.2_Missense_Mutation_p.A1161T	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	1169					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCCAGAGGACGCTGACTCGTC	0.542													A	12736450	G	A	12736450	3	1	230	1	0	0	0	0	1	0	0	0	6111	1087	38	1	3567	1	FRMPD4	23	12736450	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	9803033	12736450	142534110	108	15948											
CXorf59	286464	broad.mit.edu	37	chrX	36091481	36091481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattccagagactataagaaGgtgagagtcccatgtttctc	12	12	9	8	0	1	3	0	1	1	3	4	5	3	3	2	1	0	1	2	1	4	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:36091481G>T	uc004ddk.1	+	4	602	c.416_splice	c.e4+1	p.R139_splice		NM_173695	NP_775966	Q8N9S7	CX059_HUMAN	Homo sapiens chromosome X open reading frame 59 (CXorf59), mRNA.	139						integral to membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(18)|skin(1)|upper_aerodigestive_tract(2)	34						ACTATAAGAAGGTGAGAGTCC	0.343													T	36091481	G	T	36091481	3	4	230	1	0	0	0	0	1	0	0	0	4148	1014	35	4	426	4	CXorf59	23	36091481	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	23355031	36091481	119179079	109	15949											
BCOR	54880	broad.mit.edu	37	chrX	39911637	39911637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaaggacatccgaaagcaGtagccagtttcgtggcctac	11	9	10	11	2	0	0	0	0	0	0	2	2	1	1	3	2	3	3	3	2	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:39911637G>T	uc004den.4	-	14	5285	c.4993C>A	c.(4993-4995)Ctg>Atg	p.L1665M	BCOR_uc004dep.4_Missense_Mutation_p.L1631M|BCOR_uc004deo.4_Missense_Mutation_p.L1613M|BCOR_uc010nhb.3_3'UTR|BCOR_uc004dem.4_Missense_Mutation_p.L1631M	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	1665					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TCCGAAAGCAGTAGCCAGTTT	0.393			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39911637	G	T	39911637	3	4	230	1	0	0	0	0	1	0	0	0	1391	1020	36	4	278	4	BCOR	23	39911637	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	3820156	39911637	115358923	110	15950											
HUWE1	10075	broad.mit.edu	37	chrX	53571567	53571567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttagcccggcgcgtgtcGtcccggagctggatgatgac	5	10	15	11	5	0	2	0	2	0	0	2	4	1	4	2	3	2	2	2	3	1	2			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:53571567G>A	uc004dsp.3	-	71	11607	c.11205C>T	c.(11203-11205)gaC>gaT	p.D3735D	HUWE1_uc004dsn.3_Silent_p.D2543D|HUWE1_uc004dsq.1_Silent_p.D50D	NM_031407	NP_113584	Q7Z6Z7	HUWE1_HUMAN	Homo sapiens HECT, UBA and WWE domain containing 1 (HUWE1), mRNA.	3735					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity	p.D3625D(1)		NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						GGCGCGTGTCGTCCCGGAGCT	0.552													A	53571567	G	A	53571567	2	1	230	1	0	0	0	0	0	0	0	1	7519	1136	40	1		1	HUWE1	23	53571567	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	13659930	53571567	101698993	111	15951											
OPHN1	4983	broad.mit.edu	37	chrX	67331781	67331781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgaatagctcctaggcGgtaatccaggttgtcagact	10	10	13	8	1	1	2	1	1	0	1	3	3	3	3	2	4	1	3	2	4	4	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:67331781G>A	uc004dww.4	-	17	1735	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	OPHN1_uc011mpg.2_Missense_Mutation_p.R481C	NM_002547	NP_002538	O60890	OPHN1_HUMAN	Homo sapiens oligophrenin 1 (OPHN1), mRNA.	481	Rho-GAP.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GCTCCTAGGCGGTAATCCAGG	0.428													A	67331781	G	A	67331781	3	1	230	1	0	0	0	0	1	0	0	0	10951	1116	39	1	995	1	OPHN1	23	67331781	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	13760214	67331781	87938779	112	15952											
TAF1	6872	broad.mit.edu	37	chrX	70598242	70598246	+	Frame_Shift_Del	DEL	ACTAT	ACTAT	-																															tgaagatggcagtgggtttgActatggcttcaaactgagaa																										TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:70598242_70598246delACTAT	uc004dzu.4	+	6	1139_1143	c.1088_1092delACTAT	c.(1087-1092)gactatfs	p.D363fs	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Frame_Shift_Del_p.D384fs	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	363	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				AGTGGGTTTGACTATGGCTTCAAAC	0.454													-	70598246	ACTAT	-	70598242	7	5	230	1	0	1	0	1	0	0	0	0	15610	275	10	0	1177	0	TAF1	23	70598242	Frame_Shift_Del	DEL	ACTAT	TCGA-32-2495-01A-01D-1353-08	3266461	70598242	84672318	113	15953											
CAPN6	827	broad.mit.edu	37	chrX	110494471	110494471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagacataacaagccccaGgttcttgcgatctgatgcag	12	9	9	11	1	3	2	1	1	2	1	3	3	3	2	2	1	4	2	2	1	2	3			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:110494471G>C	uc004epc.2	-	6	1128	c.937C>G	c.(937-939)Ctg>Gtg	p.L313V	CAPN6_uc011msu.2_Missense_Mutation_p.L58V	NM_014289	NP_055104	Q9Y6Q1	CAN6_HUMAN	Homo sapiens calpain 6 (CAPN6), mRNA.	313	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.L313V(2)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						ACAAGCCCCAGGTTCTTGCGA	0.393													C	110494471	G	C	110494471	3	2	230	1	0	0	0	0	1	0	0	0	2656	991	35	4	1016	4	CAPN6	23	110494471	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	39896229	110494471	44776089	114	15954											
GRIA3	2892	broad.mit.edu	37	chrX	122538688	122538688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaatacaaattgtccatcGttggtgacgggaaatatggt	13	12	10	6	2	1	1	1	1	0	0	3	2	2	2	1	3	1	1	1	3	5	4			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:122538688G>A	uc004etq.4	+	9	1715	c.1423G>A	c.(1423-1425)Gtt>Att	p.V475I	GRIA3_uc004etr.4_Missense_Mutation_p.V475I|GRIA3_uc004ets.4_Non-coding_Transcript|GRIA3_uc011muf.1_Missense_Mutation_p.V459I	NM_007325	NP_015564	P42263	GRIA3_HUMAN	Homo sapiens glutamate receptor, ionotrophic, AMPA 3 (GRIA3), transcript variant 1, mRNA.	475					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATTGTCCATCGTTGGTGACGG	0.418													A	122538688	G	A	122538688	3	1	230	1	0	0	0	0	1	0	0	0	6824	1145	40	1	1461	1	GRIA3	23	122538688	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	12044217	122538688	32731872	115	15955											
GPR112	139378	broad.mit.edu	37	chrX	135496349	135496349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccggtgtcagataaaggttgGatataaacaggagggactaa	15	8	13	5	1	1	1	1	0	0	1	1	4	1	4	1	5	1	1	1	5	6	5			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:135496349G>C	uc004ezu.1	+	24	9359	c.9068G>C	c.(9067-9069)gGa>gCa	p.G3023A	GPR112_uc010nsb.1_Missense_Mutation_p.G2818A	NM_153834	NP_722576	Q8IZF6	GP112_HUMAN	Homo sapiens G protein-coupled receptor 112 (GPR112), mRNA.	3023					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATAAAGGTTGGATATAAACAG	0.363													C	135496349	G	C	135496349	3	2	230	1	0	0	0	0	1	0	0	0	6683	1174	41	4	9154	4	GPR112	23	135496349	Missense_Mutation	SNP	G	TCGA-32-2495-01A-01D-1353-08	12957661	135496349	19774211	116	15956											
PLXNA3	55558	broad.mit.edu	37	chrX	153694760	153694760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccagccgtggcccggcGtccgggggcacacggcttac	5	5	15	16	5	0	0	0	0	0	0	2	0	2	0	4	5	2	2	4	5	1	1			TCGA-32-2495-01A-01D-1353-08	TCGA-32-2495-10B-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41d5328-3310-4384-be5a-775bdbb2393f	0fe3a646-734e-4f89-b0cf-1c3b4c5b2285	g.chrX:153694760G>A	uc004flm.3	+	15	3014	c.2841G>A	c.(2839-2841)gcG>gcA	p.A947A		NM_017514	NP_059984	P51805	PLXA3_HUMAN	Homo sapiens plexin A3 (PLXNA3), mRNA.	947	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGCCCGGCGTCCGGGGGCA	0.662													A	153694760	G	A	153694760	2	1	230	1	0	0	0	0	0	0	0	1	12198	1132	40	1		1	PLXNA3	23	153694760	Silent	SNP	G	TCGA-32-2495-01A-01D-1353-08	18198411	153694760	1575800	117	15957											
FAF1	11124	broad.mit.edu	37	chr1	51001131	51001131	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctactgttgtgttcccTaaaaacatatagagattgcc	12	14	6	9	0	2	1	1	0	1	1	3	2	3	1	2	0	3	2	2	0	6	7			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:51001131T>C	uc001cse.1	-	15	1859	c.1406_splice	c.e15-1	p.G469_splice	FAF1_uc009vyw.1_Splice_Site|FAF1_uc010onc.1_Splice_Site_p.G227_splice	NM_007051	NP_008982	Q9UNN5	FAF1_HUMAN	Homo sapiens Fas (TNFRSF6) associated factor 1 (FAF1), mRNA.	469					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		TTGTGTTCCCTAAAAACATAT	0.323													C	51001131	T	C	51001131	5	2	231	1	0	0	0	0	0	0	1	0	5414	1536	53	3	568	3	FAF1	1	51001131	Splice_Site	SNP	T	TCGA-32-2615-01A-01D-1495-08		51001131	198249490	1	15958											
ASTN1	460	broad.mit.edu	37	chr1	176993825	176993825	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagctggtgatgctgatCagggtcaaggtggtcttatt	9	12	13	7	0	3	2	2	2	1	0	3	2	3	2	0	4	2	2	0	4	2	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:176993825C>A	uc001glc.3	-	5	1376	c.1164G>T	c.(1162-1164)ctG>ctT	p.L388L	ASTN1_uc001glb.1_Silent_p.L388L|ASTN1_uc001gld.1_Silent_p.L388L|ASTN1_uc009wwx.1_Silent_p.L388L|ASTN1_uc001gle.4_Non-coding_Transcript	NM_004319	NP_004310	O14525	ASTN1_HUMAN	Homo sapiens astrotactin 1 (ASTN1), transcript variant 1, mRNA.	388					cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGATGCTGATCAGGGTCAAGG	0.512													A	176993825	C	A	176993825	2	1	231	1	0	0	0	0	0	0	0	1	1069	813	29	4		4	ASTN1	1	176993825	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	125992694	176993825	72256796	2	15959											
PROX1	5629	broad.mit.edu	37	chr1	214209144	214209144	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccctgagattttcaaatcCccgaactgcctacaagagct	11	10	7	13	1	1	2	1	1	0	2	3	4	3	2	4	0	4	1	4	0	4	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr1:214209144C>G	uc001hkh.3	+	4	2453	c.2181C>G	c.(2179-2181)tcC>tcG	p.S727S		NM_002763	NP_002754	Q92786	PROX1_HUMAN	Homo sapiens prospero homeobox 1 (PROX1), mRNA.	727	Prospero-like.				aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		TTTTCAAATCCCCGAACTGCC	0.423													G	214209144	C	G	214209144	2	3	231	1	0	0	0	0	0	0	0	1	12646	610	22	4		4	PROX1	1	214209144	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	37215319	214209144	35041477	3	15960											
TPO	7173	broad.mit.edu	37	chr2	1480946	1480946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaccggggaccaaggcgCgctctttgggaacctgtcca	7	6	14	14	4	1	0	0	0	1	0	2	2	2	2	4	5	1	2	4	5	2	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:1480946C>T	uc002qwr.3	+	7	994	c.908C>T	c.(907-909)gCg>gTg	p.A303V	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.A303V|TPO_uc002qwx.3_Missense_Mutation_p.A303V|TPO_uc002qwu.3_Missense_Mutation_p.A303V|TPO_uc010yio.2_Intron|TPO_uc010yip.2_Missense_Mutation_p.A303V	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	303					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GACCAAGGCGCGCTCTTTGGG	0.706													T	1480946	C	T	1480946	3	4	231	1	0	0	0	0	1	0	0	0	16511	768	27	1	934	1	TPO	2	1480946	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		1480946	241718427	4	15961											
APOB	338	broad.mit.edu	37	chr2	21233706	21233706	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaggtcagccagagttcGtccagtaagctccacgccaa	11	8	10	12	2	1	1	1	0	0	1	4	1	3	1	4	1	2	4	4	1	3	3	rs147863759		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:21233706G>A	uc002red.3	-	25	6162	c.6034C>T	c.(6034-6036)Cga>Tga	p.R2012*		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2012					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCCAGAGTTCGTCCAGTAAGC	0.428													A	21233706	G	A	21233706	4	1	231	1	0	0	0	0	0	1	0	0	788	1153	40	1	7673	1	APOB	2	21233706	Nonsense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	19752760	21233706	221965667	5	15962											
THSD7B	80731	broad.mit.edu	37	chr2	137988734	137988734	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggtcatcctgttcccAgtcctgttcaaataaaaact	11	12	8	10	0	2	0	2	0	0	0	5	1	5	1	3	2	1	2	3	2	4	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr2:137988734A>C	uc002tva.1	+	6	1751	c.1751A>C	c.(1750-1752)cAg>cCg	p.Q584P	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.Q474P	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTGTTCCCAGTCCTGTTCA	0.507													C	137988734	A	C	137988734	3	2	231	1	0	0	0	0	1	0	0	0	15980	188	7	5	1777	5	THSD7B	2	137988734	Missense_Mutation	SNP	A	TCGA-32-2615-01A-01D-1495-08	116755028	137988734	105210639	6	15963											
ITIH3	3699	broad.mit.edu	37	chr3	52828907	52828907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagaagcccctttcggctgCttggggtgagtctgccccct	4	10	13	14	2	1	2	0	1	1	1	2	3	1	2	4	3	3	2	4	3	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:52828907C>T	uc003dfv.2	+	0	124	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F	ITIH3_uc011bek.1_Missense_Mutation_p.L30F	NM_002217	NP_002208	Q06033	ITIH3_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain 3 (ITIH3), mRNA.	30	VIT.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTTCGGCTGCTTGGGGTGAG	0.587													T	52828907	C	T	52828907	3	4	231	1	0	0	0	0	1	0	0	0	7963	797	28	2	90	2	ITIH3	3	52828907	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		52828907	145193523	7	15964											
DPPA4	55211	broad.mit.edu	37	chr3	109046840	109046840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttttcctgatattctattCccattggaggctttttatta	7	21	5	8	0	1	1	0	1	1	0	3	2	3	2	2	2	0	1	2	2	4	11			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr3:109046840C>T	uc003dxq.4	-	6	965	c.910G>A	c.(910-912)Gaa>Aaa	p.E304K	DPPA4_uc011bho.2_3'UTR	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN	Homo sapiens developmental pluripotency associated 4 (DPPA4), mRNA.	304						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						ATATTCTATTCCCATTGGAGG	0.373													T	109046840	C	T	109046840	3	4	231	1	0	0	0	0	1	0	0	0	4775	864	30	2	8	2	DPPA4	3	109046840	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	56217933	109046840	88975590	8	15965											
NUP54	53371	broad.mit.edu	37	chr4	77069476	77069476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccgcgggggccgcggTggctgcagcggtaccggagg	4	4	19	14	6	1	0	1	0	0	0	1	1	1	1	3	7	3	3	3	7	1	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr4:77069476T>G	uc003hjs.3	-	0	180	c.52A>C	c.(52-54)Acc>Ccc	p.T18P	NUP54_uc010ije.3_5'UTR|NUP54_uc011cbs.2_5'UTR|NUP54_uc011cbt.2_Missense_Mutation_p.T18P|NUP54_uc003hjt.3_5'UTR	NM_017426	NP_059122	Q7Z3B4	NUP54_HUMAN	Homo sapiens nucleoporin 54kDa (NUP54), mRNA.	18	9 X 2 AA repeats of F-G.|Gly-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						GGGGCCGCGGTGGCTGCAGCG	0.667													G	77069476	T	G	77069476	3	3	231	1	0	0	0	0	1	0	0	0	10843	1696	59	5	1519	5	NUP54	4	77069476	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08		77069476	114084800	9	15966											
EGR1	1958	broad.mit.edu	37	chr5	137803130	137803130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaccggcccagcaagaCgcccccccacgaacgccctt	9	2	7	23	4	0	1	0	0	0	1	0	2	0	1	8	1	3	1	8	1	3	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:137803130C>T	uc003ldb.1	+	1	1262	c.992C>T	c.(991-993)aCg>aTg	p.T331M		NM_001964	NP_001955	P18146	EGR1_HUMAN	Homo sapiens early growth response 1 (EGR1), mRNA.	331					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CCCAGCAAGACGCCCCCCCAC	0.652													T	137803130	C	T	137803130	3	4	231	1	0	0	0	0	1	0	0	0	5010	536	19	1	998	1	EGR1	5	137803130	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		137803130	43112130	10	15967											
PCDHAC2	56145	broad.mit.edu	37	chr5	140181750	140181750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccaggtagaagccaCggataaaggaaatcccccaa	17	5	9	10	1	0	2	0	1	0	1	2	4	2	4	4	3	1	1	4	3	7	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:140181750C>T	uc003lhf.2	+	0	968	c.968C>T	c.(967-969)aCg>aTg	p.T323M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.T323M	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	338	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTAGAAGCCACGGATAAAGGA	0.378													T	140181750	C	T	140181750	3	4	231	1	0	0	0	0	1	0	0	0	11609	536	19	1		1	PCDHAC2	5	140181750	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	2378620	140181750	40733510	11	15968											
ARAP3	64411	broad.mit.edu	37	chr5	141041300	141041300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgcggcggttgacccgcgGcaggcagccaatcacatctt	7	8	13	13	4	2	1	1	1	1	0	2	1	2	1	2	4	2	3	2	4	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:141041300G>A	uc003llm.3	-	20	3148	c.3070C>T	c.(3070-3072)Ccg>Tcg	p.P1024S	ARAP3_uc003lll.3_5'UTR|ARAP3_uc011dbe.2_Missense_Mutation_p.P686S|ARAP3_uc003lln.3_Missense_Mutation_p.P855S	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	1024	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						TTGACCCGCGGCAGGCAGCCA	0.572													A	141041300	G	A	141041300	3	1	231	1	0	0	0	0	1	0	0	0	843	1203	42	2	1616	2	ARAP3	5	141041300	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	859550	141041300	39873960	12	15969											
SH3RF2	153769	broad.mit.edu	37	chr5	145428731	145428731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggggaagtgccaggaCggctggctcaggggcgtctc	5	7	18	11	2	2	0	1	0	1	0	4	2	3	2	2	7	1	2	2	7	1	0			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr5:145428731C>T	uc003lnt.3	+	6	1483	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D	SH3RF2_uc011dbl.1_Silent_p.D415D|SH3RF2_uc011dbm.1_5'Flank|SH3RF2_uc003lnu.3_5'Flank	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	415	SH3 3.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGTGCCAGGACGGCTGGCTCA	0.597											OREG0016895	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	145428731	C	T	145428731	2	4	231	1	0	0	0	0	0	0	0	1	14353	535	19	1		1	SH3RF2	5	145428731	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	4387431	145428731	35486529	13	15970											
PRSS16	10279	broad.mit.edu	37	chr6	27216987	27216987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggaaatggcccagctccGcttcttgtccagccgccttg	5	10	10	16	2	1	0	0	0	1	0	3	1	3	1	6	2	2	2	6	2	1	3	rs145240806		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27216987G>A	uc003nja.3	+	3	461	c.446G>A	c.(445-447)cGc>cAc	p.R149H	PRSS16_uc011dkt.2_Intron|PRSS16_uc003njb.3_Intron|PRSS16_uc003njc.1_Non-coding_Transcript|PRSS16_uc010jqq.1_Missense_Mutation_p.R39H|PRSS16_uc010jqr.1_Missense_Mutation_p.R39H|PRSS16_uc003njd.3_5'Flank	NM_005865	NP_005856	Q9NQE7	TSSP_HUMAN	Homo sapiens protease, serine, 16 (thymus) (PRSS16), mRNA.	149					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCCCAGCTCCGCTTCTTGTCC	0.562													A	27216987	G	A	27216987	3	1	231	1	0	0	0	0	1	0	0	0	12701	1087	38	1	460	1	PRSS16	6	27216987	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		27216987	143898080	14	15971											
HIST1H2BO	8348	broad.mit.edu	37	chr6	27861564	27861564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccggggagctggcCaagcacgccgtgtccgaggg	5	5	17	14	4	0	0	0	0	0	0	1	2	1	1	4	4	4	3	4	4	1	0			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:27861564C>T	uc003nkc.1	+	0	362	c.324C>T	c.(322-324)gcC>gcT	p.A108A	HIST1H3J_uc003nka.3_5'Flank|HIST1H2AM_uc003nkb.1_5'Flank	NM_003527	NP_003518	P23527	H2B1O_HUMAN	Homo sapiens histone cluster 1, H2bo (HIST1H2BO), mRNA.	108					nucleosome assembly	nucleosome|nucleus	DNA binding										GGGAGCTGGCCAAGCACGCCG	0.637													T	27861564	C	T	27861564	2	4	231	1	0	0	0	0	0	0	0	1	7209	581	21	2		2	HIST1H2BO	6	27861564	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	644577	27861564	143253503	15	15972											
OR2J3	442186	broad.mit.edu	37	chr6	29080293	29080293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgatcacaagctccatatTtgttctcatacctctcatcc	10	14	3	14	0	3	1	3	1	2	0	7	1	5	1	3	0	2	2	3	0	3	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:29080293T>C	uc011dll.2	+	0	626	c.626T>C	c.(625-627)tTt>tCt	p.F209S		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F209C(2)|p.I208T(1)		endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AGCTCCATATTTGTTCTCATA	0.448													C	29080293	T	C	29080293	3	2	231	1	0	0	0	0	1	0	0	0	11080	1841	64	3	628	3	OR2J3	6	29080293	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08	1218729	29080293	142034774	16	15973											
ZBTB12	221527	broad.mit.edu	37	chr6	31868436	31868436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccggtgtgccacctccaggGccgactccaccttgacgatg	6	7	12	16	3	0	1	0	1	0	0	2	3	2	1	7	2	1	0	7	2	0	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:31868436G>A	uc003nyd.1	-	1	823	c.647C>T	c.(646-648)gCc>gTc	p.A216V	EHMT2_uc003nxz.1_5'Flank|EHMT2_uc003nya.1_5'Flank|EHMT2_uc003nyb.1_5'Flank|CFB_uc003nyc.2_Intron|CFB_uc011doo.2_Intron|ZBTB12_uc021yva.1_Missense_Mutation_p.A216V|CFB_uc011dop.2_5'Flank	NM_181842	NP_862825	Q9Y330	ZBT12_HUMAN	Homo sapiens zinc finger and BTB domain containing 12 (ZBTB12), mRNA.	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CACCTCCAGGGCCGACTCCAC	0.627													A	31868436	G	A	31868436	3	1	231	1	0	0	0	0	1	0	0	0	17626	1203	42	2	736	2	ZBTB12	6	31868436	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	2788143	31868436	139246631	17	15974											
ZNF318	24149	broad.mit.edu	37	chr6	43325085	43325085	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttcctctcgctttcGtctggcaagatccagttctc	4	15	6	16	2	4	1	0	0	4	1	10	1	7	1	3	1	0	3	3	1	1	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:43325085G>A	uc003oux.3	-	2	1045	c.967C>T	c.(967-969)Cga>Tga	p.R323*	ZNF318_uc003ouw.3_Non-coding_Transcript	NM_014345	NP_055160	Q5VUA4	ZN318_HUMAN	Homo sapiens zinc finger protein 318 (ZNF318), mRNA.	323					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding	p.R322R(1)		autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTCGCTTTCGTCTGGCAAGA	0.522													A	43325085	G	A	43325085	4	1	231	1	0	0	0	0	0	1	0	0	17937	1153	40	1	5904	1	ZNF318	6	43325085	Nonsense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	11456649	43325085	127789982	18	15975											
IMPG1	3617	broad.mit.edu	37	chr6	76782168	76782169	+	Frame_Shift_Ins	INS	-	-	A																															ttgaacttggagaaaaatccINSaaaaaacaaaaatagctctt																										TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr6:76782168_76782169insA	uc003pik.1	-	0	167_168	c.37_38insT	c.(37-39)tggfs	p.W13fs		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	13					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				GAGAAAAATCCAAAAAACAAAA	0.287													A	76782169	-	A	76782168	7	5	231	1	0	1	1	0	0	0	0	0	7786	595	21	0	2423	0	IMPG1	6	76782168	Frame_Shift_Ins	INS	-	TCGA-32-2615-01A-01D-1495-08	33457083	76782168	94332899	19	15976											
TNPO3	23534	broad.mit.edu	37	chr7	128612562	128612562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccggtggtccagggtagtaGaggcaatggcccactgtaag	9	7	15	10	1	0	1	0	0	0	1	1	1	1	1	3	5	0	4	3	5	4	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:128612562G>A	uc010lly.2	-	18	2853	c.2450C>T	c.(2449-2451)tCt>tTt	p.S817F	TNPO3_uc010llx.2_Missense_Mutation_p.S194F|TNPO3_uc003vol.2_Missense_Mutation_p.S783F|TNPO3_uc010llz.2_Missense_Mutation_p.S719F|TNPO3_uc003vom.2_Missense_Mutation_p.S717F	NM_012470	NP_036602	Q9Y5L0	TNPO3_HUMAN	Homo sapiens transportin 3 (TNPO3), transcript variant 1, mRNA.	783					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						CAGGGTAGTAGAGGCAATGGC	0.478													A	128612562	G	A	128612562	3	1	231	1	0	0	0	0	1	0	0	0	16437	942	33	2	439	2	TNPO3	7	128612562	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		128612562	30526101	20	15977											
PARP12	64761	broad.mit.edu	37	chr7	139746776	139746776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagaattgccatcgataCggcaaatggaaatgaactct	15	9	8	9	2	1	2	0	1	1	1	3	4	2	3	2	2	3	1	2	2	6	2	rs147556524		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:139746776C>T	uc003vvl.1	-	4	1768	c.894G>A	c.(892-894)ccG>ccA	p.P298P	PARP12_uc010lnf.1_Non-coding_Transcript	NM_022750	NP_073587	Q9H0J9	PAR12_HUMAN	Homo sapiens poly (ADP-ribose) polymerase family, member 12 (PARP12), mRNA.	298	WWE 1.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding	p.P298P(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GCCATCGATACGGCAAATGGA	0.403													T	139746776	C	T	139746776	2	4	231	1	0	0	0	0	0	0	0	1	11533	523	19	1		1	PARP12	7	139746776	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	11134214	139746776	19391887	21	15978											
NOBOX	135935	broad.mit.edu	37	chr7	144097327	144097327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggggtcacccccaccGtctgggcaatctctcggcgt	4	8	14	15	3	3	0	1	0	2	0	5	0	3	0	3	5	0	2	3	5	1	0			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:144097327G>A	uc022aoj.1	-	4	923	c.923C>T	c.(922-924)aCg>aTg	p.T308M		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	308					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CACCCCCACCGTCTGGGCAAT	0.552													A	144097327	G	A	144097327	3	1	231	1	0	0	0	0	1	0	0	0	10588	1145	40	1	1080	1	NOBOX	7	144097327	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	4350551	144097327	15041336	22	15979											
ZNF282	8427	broad.mit.edu	37	chr7	148920939	148920940	+	Frame_Shift_Ins	INS	-	-	C																															ggtgaagaacccacccccggINSccccgccacagccccagccc																										TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr7:148920939_148920940insC	uc003wfm.3	+	7	1321_1322	c.1216_1217insC	c.(1216-1218)gccfs	p.A406fs	ZNF282_uc011kun.1_Frame_Shift_Ins_p.A406fs|ZNF282_uc003wfo.3_Intron	NM_003575	NP_003566	Q9UDV7	ZN282_HUMAN	Homo sapiens zinc finger protein 282 (ZNF282), mRNA.	406					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		cccacccccggccccgccacag	0.703													C	148920940	-	C	148920939	7	5	231	1	0	1	1	0	0	0	0	0	17920	1203	42	0	1246	0	ZNF282	7	148920939	Frame_Shift_Ins	INS	-	TCGA-32-2615-01A-01D-1495-08	4823612	148920939	10217724	23	15980											
XKR4	114786	broad.mit.edu	37	chr8	56270319	56270319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttttactggaaaatggtAtatgagtatgcggatgtgag	12	13	14	2	1	0	2	0	2	0	0	0	4	0	4	0	4	2	3	0	4	6	5			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:56270319A>G	uc003xsf.3	+	1	920	c.888A>G	c.(886-888)gtA>gtG	p.V296V		NM_052898	NP_443130	Q5GH76	XKR4_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related family, member 4 (XKR4), mRNA.	296						integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GGAAAATGGTATATGAGTATG	0.438													G	56270319	A	G	56270319	2	3	231	1	0	0	0	0	0	0	0	1	17535	436	16	3		3	XKR4	8	56270319	Silent	SNP	A	TCGA-32-2615-01A-01D-1495-08		56270319	90093703	24	15981											
CPSF1	29894	broad.mit.edu	37	chr8	145624369	145624369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcaccgacaaagccccGttcttcccgtggccggagca	8	6	11	16	4	1	0	0	0	1	0	2	2	2	1	5	2	4	4	5	2	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr8:145624369G>A	uc003zcj.3	-	15	1602	c.1527C>T	c.(1525-1527)aaC>aaT	p.N509N		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	509					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			ACAAAGCCCCGTTCTTCCCGT	0.677													A	145624369	G	A	145624369	2	1	231	1	0	0	0	0	0	0	0	1	3855	1136	40	1		1	CPSF1	8	145624369	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08	89354050	145624369	739653	25	15982											
ASS1	445	broad.mit.edu	37	chr9	133342180	133342180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaatgacctgatggagtaCgcaaaggtatggccgagtct	11	8	13	9	3	1	2	0	2	1	0	1	4	1	3	2	3	1	4	2	3	4	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr9:133342180C>T	uc010mza.3	+	6	1225	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ASS1_uc004bzm.3_Silent_p.Y163Y|ASS1_uc004bzn.3_Silent_p.Y163Y	NM_054012	NP_446464	P00966	ASSY_HUMAN	Homo sapiens argininosuccinate synthase 1 (ASS1), transcript variant 2, mRNA.	163					arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding	p.K239N(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGATGGAGTACGCAAAGGTAT	0.612													T	133342180	C	T	133342180	2	4	231	1	0	0	0	0	0	0	0	1	1066	547	19	1		1	ASS1	9	133342180	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08		133342180	7871251	26	15983											
AKR1C4	1109	broad.mit.edu	37	chr10	5238864	5238864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagcgtgtagagctaaatGatggtcacttcatgcccgta	11	11	10	9	2	3	2	3	1	0	1	3	2	3	2	1	1	3	3	1	1	4	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:5238864G>A	uc001ihw.2	+	0	67	c.34G>A	c.(34-36)Gat>Aat	p.D12N		NM_001818	NP_001809	P17516	AK1C4_HUMAN	Homo sapiens aldo-keto reductase family 1, member C4 (chlordecone reductase; 3-alpha hydroxysteroid dehydrogenase, type I; dihydrodiol dehydrogenase 4) (AKR1C4), mRNA.	12					androgen metabolic process|bile acid biosynthetic process	cytosol	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (B-specific) activity|bile acid transmembrane transporter activity|chlordecone reductase activity|electron carrier activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	18					NADH(DB00157)	AGAGCTAAATGATGGTCACTT	0.418													A	5238864	G	A	5238864	3	1	231	1	0	0	0	0	1	0	0	0	472	1290	45	2	36	2	AKR1C4	10	5238864	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		5238864	130295883	27	15984											
TAF3	83860	broad.mit.edu	37	chr10	8006394	8006394	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccaaaaactgtatccaaAgaaaagaaatcacctggacg	19	6	6	10	1	2	2	2	0	0	2	3	3	3	3	3	1	1	1	3	1	7	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:8006394A>G	uc010qbd.2	+	2	921	c.921A>G	c.(919-921)aaA>aaG	p.K307K		NM_031923	NP_114129	Q5VWG9	TAF3_HUMAN	Homo sapiens TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa (TAF3), mRNA.	307					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGTATCCAAAGAAAAGAAAT	0.493													G	8006394	A	G	8006394	2	3	231	1	0	0	0	0	0	0	0	1	15622	69	3	3		3	TAF3	10	8006394	Silent	SNP	A	TCGA-32-2615-01A-01D-1495-08	2767530	8006394	127528353	28	15985											
OPN4	94233	broad.mit.edu	37	chr10	88419055	88419055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgccctggctcccaggCgcctacgtgcccgaggggtt	4	7	13	17	3	0	0	0	0	0	0	1	1	1	0	5	4	3	2	5	4	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:88419055C>T	uc010qmk.1	+	6	889	c.662_splice	c.e6-1	p.S221_splice	OPN4_uc001kdp.3_Splice_Site_p.S221_splice|OPN4_uc001kdq.3_Splice_Site_p.S210_splice|OPN4_uc009xsx.1_5'Flank	NM_001030015	NP_001025186	Q9UHM6	OPN4_HUMAN	Homo sapiens opsin 4 (OPN4), transcript variant 2, mRNA.	210					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GGCTCCCAGGCGCCTACGTGC	0.622													T	88419055	C	T	88419055	2	4	231	1	0	0	0	0	0	0	0	1	10958	782	27	1		1	OPN4	10	88419055	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	80412661	88419055	47115692	29	15986											
LOC729020	729020	broad.mit.edu	37	chr10	105005758	105005758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggagccagcggtatggCgtcgggctgcaagattggcc	6	8	17	10	3	0	1	0	0	0	1	1	2	0	2	2	5	3	3	2	5	2	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr10:105005758C>T	uc009xxi.2	+	0	115	c.5C>T	c.(4-6)gCg>gTg	p.A2V	BC040734_uc001kwr.3_Intron	NM_001143909	NP_001137381	Q2QD12	Q2QD12_HUMAN	Homo sapiens rcRPE (LOC729020), mRNA.	2					carbohydrate metabolic process		ribulose-phosphate 3-epimerase activity										AGCGGTATGGCGTCGGGCTGC	0.522													T	105005758	C	T	105005758	3	4	231	1	0	0	0	0	1	0	0	0	8957	768	27	1	7	1	LOC729020	10	105005758	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	16586703	105005758	30528989	30	15987											
OR52M1	119772	broad.mit.edu	37	chr11	4566916	4566916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctgcctctgatgatcCgcctgcggctgcccctttat	4	12	9	16	2	2	2	0	2	2	0	3	3	3	2	6	1	3	1	6	1	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:4566916C>T	uc010qyf.2	+	0	496	c.496C>T	c.(496-498)Cgc>Tgc	p.R166C		NM_001004137	NP_001004137	Q8NGK5	O52M1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily M, member 1 (OR52M1), mRNA.	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTGATGATCCGCCTGCGGCT	0.522													T	4566916	C	T	4566916	3	4	231	1	0	0	0	0	1	0	0	0	11202	652	23	1	498	1	OR52M1	11	4566916	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		4566916	130439600	31	15988											
MRVI1	10335	broad.mit.edu	37	chr11	10647541	10647541	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtcagtttctgcatcCgcacgggctgcacttgtatc	5	13	11	12	2	2	0	1	0	1	0	4	0	3	0	1	2	2	7	1	2	1	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:10647541C>G	uc010rcc.1	-	8	1726	c.1340G>C	c.(1339-1341)cGg>cCg	p.R447P	MRVI1_uc010rcb.1_Missense_Mutation_p.R439P|MRVI1_uc001miw.2_Missense_Mutation_p.R438P|MRVI1_uc001mix.3_Missense_Mutation_p.R132P|MRVI1_uc001miz.2_Missense_Mutation_p.R356P|MRVI1_uc010rcd.1_Intron|MRVI1_uc009ygd.1_Missense_Mutation_p.R132P|MRVI1_uc010rce.1_Intron	NM_130385	NP_569056	Q9Y6F6	MRVI1_HUMAN	Homo sapiens murine retrovirus integration site 1 homolog (MRVI1), transcript variant 2, mRNA.	420					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTTCTGCATCCGCACGGGCTG	0.597													G	10647541	C	G	10647541	3	3	231	1	0	0	0	0	1	0	0	0	9929	652	23	4	1450	4	MRVI1	11	10647541	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	6080625	10647541	124358975	32	15989											
HTR3A	3359	broad.mit.edu	37	chr11	113853896	113853896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtatattcggcatcaaggCgaagttcagaactacaagcc	13	9	10	9	2	2	1	2	0	0	1	3	2	2	1	1	2	3	3	1	2	7	5			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr11:113853896C>T	uc010rxb.2	+	4	680	c.447C>T	c.(445-447)ggC>ggT	p.G149G	HTR3A_uc010rxa.2_Silent_p.G149G|HTR3A_uc009yyx.3_Non-coding_Transcript|HTR3A_uc010rxc.2_Silent_p.G128G	NM_213621	NP_998786	P46098	5HT3A_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3A (HTR3A), transcript variant 1, mRNA.	143					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.K149R(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	GGCATCAAGGCGAAGTTCAGA	0.537													T	113853896	C	T	113853896	2	4	231	1	0	0	0	0	0	0	0	1	7502	755	27	1		1	HTR3A	11	113853896	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08	103206355	113853896	21152620	33	15990											
CPNE8	144402	broad.mit.edu	37	chr12	39155951	39155951	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatgctctgactgagaTcttgaatgcttgccatactg	11	13	8	9	0	2	3	0	3	2	1	2	4	2	3	1	0	4	2	1	0	3	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39155951T>A	uc001rls.1	-	8	727	c.643A>T	c.(643-645)Atc>Ttc	p.I215F		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	215	C2 2.							p.K214N(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				CTGACTGAGATCTTGAATGCT	0.308													A	39155951	T	A	39155951	3	1	231	1	0	0	0	0	1	0	0	0	3849	1435	50	5	1099	5	CPNE8	12	39155951	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08		39155951	94695944	34	15991											
KIF21A	55605	broad.mit.edu	37	chr12	39726188	39726188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgaaagtttctctcgtCtttttgtgagttcctcccgt	4	21	7	9	2	2	2	0	2	2	0	6	2	4	2	2	0	0	2	2	0	1	6			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:39726188C>A	uc001rly.3	-	20	3299	c.2879G>T	c.(2878-2880)aGa>aTa	p.R960I	KIF21A_uc001rlv.3_5'UTR|KIF21A_uc001rlw.3_Missense_Mutation_p.R277I|KIF21A_uc001rlx.3_Missense_Mutation_p.R947I|KIF21A_uc001rlz.3_Missense_Mutation_p.R924I|KIF21A_uc010skl.2_Missense_Mutation_p.R947I	NM_001173464	NP_001166935	Q7Z4S6	KI21A_HUMAN	Homo sapiens kinesin family member 21A (KIF21A), transcript variant 1, mRNA.	960					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTCTCTCGTCTTTTTGTGAG	0.398													A	39726188	C	A	39726188	3	1	231	1	0	0	0	0	1	0	0	0	8346	913	32	4	2217	4	KIF21A	12	39726188	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	570237	39726188	94125707	35	15992											
GRIP1	23426	broad.mit.edu	37	chr12	66838466	66838466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcttctgttggaattcCattgatggccatcactctgt	6	16	9	10	0	4	1	1	1	3	0	5	2	5	2	2	2	0	2	2	2	1	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:66838466C>T	uc001stk.3	-	11	1670	c.1429G>A	c.(1429-1431)Gga>Aga	p.G477R	GRIP1_uc010sta.1_Missense_Mutation_p.G421R|GRIP1_uc001stj.3_Missense_Mutation_p.G259R|GRIP1_uc001stm.3_Missense_Mutation_p.G477R|GRIP1_uc001stl.1_Missense_Mutation_p.G369R	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	529	PDZ 4.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		GTTGGAATTCCATTGATGGCC	0.458													T	66838466	C	T	66838466	3	4	231	1	0	0	0	0	1	0	0	0	6842	603	21	2	1853	2	GRIP1	12	66838466	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	27112278	66838466	67013429	36	15993											
OAS2	4939	broad.mit.edu	37	chr12	113435338	113435338	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtgccagaaaaaaaTcaaggatttaccctcgctgt	14	8	7	12	1	1	1	1	0	0	1	2	2	1	2	3	1	2	1	3	1	5	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:113435338T>A	uc001tuj.3	+	3	781	c.641T>A	c.(640-642)aTc>aAc	p.I214N	OAS2_uc001tui.1_Missense_Mutation_p.I214N	NM_016817	NP_058197	P29728	OAS2_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase 2, 69/71kDa (OAS2), transcript variant 1, mRNA.	214	OAS domain 1.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						CAGAAAAAAATCAAGGATTTA	0.488													A	113435338	T	A	113435338	3	1	231	1	0	0	0	0	1	0	0	0	10876	1435	50	5	726	5	OAS2	12	113435338	Missense_Mutation	SNP	T	TCGA-32-2615-01A-01D-1495-08	46596872	113435338	20416557	37	15994											
ULK1	8408	broad.mit.edu	37	chr12	132379629	132379629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcggccacggcgccttcgCggtggtcttcaagggccgcc	4	7	15	15	6	2	0	1	0	1	0	4	1	2	0	4	5	0	0	4	5	1	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr12:132379629C>T	uc001uje.3	+	0	351	c.83C>T	c.(82-84)gCg>gTg	p.A28V		NM_003565	NP_003556	O75385	ULK1_HUMAN	Homo sapiens unc-51-like kinase 1 (C. elegans) (ULK1), mRNA.	28	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGCGCCTTCGCGGTGGTCTTC	0.751													T	132379629	C	T	132379629	3	4	231	1	0	0	0	0	1	0	0	0	17077	768	27	1	85	1	ULK1	12	132379629	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	18944291	132379629	1472266	38	15995											
KLHL1	57626	broad.mit.edu	37	chr13	70314591	70314591	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactggctacaaatgtccaTtgttgactctgtggatccca	10	13	8	10	0	1	1	0	1	1	0	3	2	3	2	2	2	2	2	2	2	3	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr13:70314591T>C	uc001vip.3	-	7	2531	c.1737A>G	c.(1735-1737)caA>caG	p.Q579Q	KLHL1_uc010thm.2_Silent_p.Q518Q	NM_020866	NP_065917	Q9NR64	KLHL1_HUMAN	Homo sapiens kelch-like 1 (Drosophila) (KLHL1), mRNA.	579					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding	p.Q579K(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CAAATGTCCATTGTTGACTCT	0.413													C	70314591	T	C	70314591	2	2	231	1	0	0	0	0	0	0	0	1	8423	1490	52	3		3	KLHL1	13	70314591	Silent	SNP	T	TCGA-32-2615-01A-01D-1495-08		70314591	44855287	39	15996											
CLEC14A	161198	broad.mit.edu	37	chr14	38723832	38723832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagatcacagtccccgaCtttcaccccattgtttgtgc	7	11	7	16	2	2	1	2	0	0	1	3	2	3	1	5	0	1	2	5	0	0	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr14:38723832C>A	uc001wum.1	-	0	1743	c.1396G>T	c.(1396-1398)Gtc>Ttc	p.V466F		NM_175060	NP_778230	Q86T13	CLC14_HUMAN	Homo sapiens C-type lectin domain family 14, member A (CLEC14A), mRNA.	466						integral to membrane	sugar binding	p.V466V(2)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CAGTCCCCGACTTTCACCCCA	0.602													A	38723832	C	A	38723832	3	1	231	1	0	0	0	0	1	0	0	0	3530	565	20	4	80	4	CLEC14A	14	38723832	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08		38723832	68625708	40	15997											
NR2F2	7026	broad.mit.edu	37	chr15	96877485	96877485	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagcccaacaacatcatggGtatcgagaacatttgcgaac	14	7	9	11	2	1	1	1	0	0	1	2	3	1	1	1	1	6	2	1	1	5	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr15:96877485G>C	uc010uri.2	+	1	1847	c.623G>C	c.(622-624)gGt>gCt	p.G208A	NR2F2_uc002btp.3_Missense_Mutation_p.G75A|NR2F2_uc010urj.2_Missense_Mutation_p.G55A|NR2F2_uc010urk.2_Missense_Mutation_p.G55A	NM_021005	NP_001138629	P24468	COT2_HUMAN	Homo sapiens nuclear receptor subfamily 2, group F, member 2 (NR2F2), transcript variant 1, mRNA.	208	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACATCATGGGTATCGAGAAC	0.602													C	96877485	G	C	96877485	3	2	231	1	0	0	0	0	1	0	0	0	10704	1261	44	4	676	4	NR2F2	15	96877485	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		96877485	5653907	41	15998											
CDKN2D	1032	broad.mit.edu	37	chr19	10678076	10678076	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccagggcgatggcggtGctgccaaacatcatgacctg	9	7	13	12	2	1	1	1	1	0	0	2	2	2	1	3	3	4	2	3	3	1	0			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:10678076G>A	uc002mpa.3	-	1	461	c.159C>T	c.(157-159)agC>agT	p.S53S	KRI1_uc002mox.1_5'Flank|KRI1_uc002moy.1_5'Flank|CDKN2D_uc002mpb.3_Silent_p.S53S	NM_001800	NP_524145	P55273	CDN2D_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4) (CDKN2D), transcript variant 1, mRNA.	53					anti-apoptosis|autophagic cell death|cell cycle arrest|DNA synthesis involved in DNA repair|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|negative regulation of caspase activity|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|response to retinoic acid|response to UV|response to vitamin D	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CGATGGCGGTGCTGCCAAACA	0.592													A	10678076	G	A	10678076	2	1	231	1	0	0	0	0	0	0	0	1	3196	1310	46	2		2	CDKN2D	19	10678076	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08		10678076	48450907	42	15999											
CYP4F11	57834	broad.mit.edu	37	chr19	16025181	16025181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgttctcttggtcgaaaCggaaggggtcgtagacctgc	8	11	14	8	3	1	2	0	1	1	1	4	4	1	3	1	4	2	2	1	4	3	3			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:16025181C>T	uc002nbu.2	-	11	1367	c.1331G>A	c.(1330-1332)cGt>cAt	p.R444H	CYP4F11_uc010eab.1_Silent_p.P422P|CYP4F11_uc002nbt.2_Missense_Mutation_p.R444H	NM_001128932	NP_067010	Q9HBI6	CP4FB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 11 (CYP4F11), transcript variant 2, mRNA.	444					inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						TTGGTCGAAACGGAAGGGGTC	0.587													T	16025181	C	T	16025181	3	4	231	1	0	0	0	0	1	0	0	0	4219	536	19	1	251	1	CYP4F11	19	16025181	Missense_Mutation	SNP	C	TCGA-32-2615-01A-01D-1495-08	5347105	16025181	43103802	43	16000											
HKR1	284459	broad.mit.edu	37	chr19	37853365	37853365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagggtccagccctgaacGgagggcagatctagaggaaa	13	6	14	8	1	1	3	0	1	1	2	2	5	2	5	2	4	2	1	2	4	5	3	rs112164866		TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:37853365G>A	uc002ogb.3	+	5	937	c.668G>A	c.(667-669)cGg>cAg	p.R223Q	HKR1_uc002ofx.3_5'UTR|HKR1_uc002ofy.3_5'UTR|HKR1_uc002oga.3_Missense_Mutation_p.R205Q|HKR1_uc010xto.2_Missense_Mutation_p.R205Q|HKR1_uc002ogc.3_Missense_Mutation_p.R204Q|HKR1_uc010xtp.2_Missense_Mutation_p.R162Q|HKR1_uc002ogd.3_Missense_Mutation_p.R162Q	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	223					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGCCCTGAACGGAGGGCAGAT	0.468													A	37853365	G	A	37853365	3	1	231	1	0	0	0	0	1	0	0	0	7249	1116	39	1	682	1	HKR1	19	37853365	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08	21828184	37853365	21275618	44	16001											
CRX	1406	broad.mit.edu	37	chr19	48342915	48342915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgccatgacctacgccccGgcctccgctttctgctcttc	4	12	7	18	3	2	1	0	1	2	0	4	1	3	1	6	1	3	2	6	1	2	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr19:48342915G>A	uc002phq.4	+	3	795	c.591G>A	c.(589-591)ccG>ccA	p.P197P		NM_000554	NP_000545	O43186	CRX_HUMAN	Homo sapiens cone-rod homeobox (CRX), mRNA.	197					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P197P(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CCTACGCCCCGGCCTCCGCTT	0.672													A	48342915	G	A	48342915	2	1	231	1	0	0	0	0	0	0	0	1	3933	1103	39	1		1	CRX	19	48342915	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08	10489550	48342915	10786068	45	16002											
R3HDML	140902	broad.mit.edu	37	chr20	42979302	42979302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtccttttctcttccagggGcaactggattggcgagtccc	5	12	12	12	1	1	0	0	0	1	0	5	2	4	1	3	5	1	1	3	5	1	4			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr20:42979302G>A	uc002xls.1	+	4	804	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	211						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			TCTTCCAGGGGCAACTGGATT	0.567													A	42979302	G	A	42979302	3	1	231	1	0	0	0	0	1	0	0	0	12977	1203	42	2	650	2	R3HDML	20	42979302	Missense_Mutation	SNP	G	TCGA-32-2615-01A-01D-1495-08		42979302	20046218	46	16003											
MPPED1	758	broad.mit.edu	37	chr22	43831125	43831125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgaggtgaagaagttcaaCgagtggctgggtaggtccct	10	8	16	7	2	1	2	1	1	0	1	2	4	2	2	1	4	2	3	1	4	4	2			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chr22:43831125C>T	uc011apz.2	+	2	836	c.495C>T	c.(493-495)aaC>aaT	p.N165N	MPPED1_uc011apv.2_Silent_p.N132N|MPPED1_uc011apw.2_Silent_p.N26N|MPPED1_uc011apx.2_Intron|MPPED1_uc011apy.2_Silent_p.N132N	NM_001044370	NP_001037835	O15442	MPPD1_HUMAN	Homo sapiens metallophosphoesterase domain containing 1 (MPPED1), mRNA.	132							hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				AGAAGTTCAACGAGTGGCTGG	0.682													T	43831125	C	T	43831125	2	4	231	1	0	0	0	0	0	0	0	1	9817	535	19	1		1	MPPED1	22	43831125	Silent	SNP	C	TCGA-32-2615-01A-01D-1495-08		43831125	7473441	47	16004											
ZIC3	7547	broad.mit.edu	37	chrX	136649606	136649606	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatcaagcaggagctgtcGtgcaagtggatcgacgaggc	10	7	14	10	3	1	0	1	0	0	0	3	4	1	2	1	3	3	3	1	3	3	1			TCGA-32-2615-01A-01D-1495-08	TCGA-32-2615-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	65e3c804-b1a3-4e21-9407-90a6edc4e290	13640737-743d-4d84-a399-f3dba0539e70	g.chrX:136649606G>A	uc004fak.3	+	0	1261	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_003413	NP_003404	O60481	ZIC3_HUMAN	Homo sapiens Zic family member 3 (ZIC3), mRNA.	252					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					AGGAGCTGTCGTGCAAGTGGA	0.607													A	136649606	G	A	136649606	2	1	231	1	0	0	0	0	0	0	0	1	17781	1132	40	1		1	ZIC3	23	136649606	Silent	SNP	G	TCGA-32-2615-01A-01D-1495-08		136649606	18620954	48	16005											
ABCD3	5825	broad.mit.edu	37	chr1	94953473	94953473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccaaagtggaagaatgcTtttgcgaatgtctcaagctc	12	11	9	9	1	1	1	1	0	1	1	3	3	1	2	1	1	4	2	1	1	6	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:94953473T>C	uc010oto.2	+	13	1265	c.1163T>C	c.(1162-1164)cTt>cCt	p.L388P	ABCD3_uc001dqn.4_Missense_Mutation_p.L364P|ABCD3_uc010otp.2_Missense_Mutation_p.L291P|ABCD3_uc009wdr.3_Intron|ABCD3_uc001dqo.4_Missense_Mutation_p.L52P	NM_002858	NP_002849	P28288	ABCD3_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 3 (ABCD3), transcript variant 1, mRNA.	364					peroxisomal long-chain fatty acid import|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		GGAAGAATGCTTTTGCGAATG	0.333													C	94953473	T	C	94953473	3	2	232	1	0	0	0	0	1	0	0	0	62	1609	56	3	1172	3	ABCD3	1	94953473	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08		94953473	154297148	1	16006											
NOTCH2	4853	broad.mit.edu	37	chr1	120464949	120464949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccttcaggcagccagagaGagccatgcttacgctttcgt	10	9	10	12	2	1	2	1	0	0	2	2	3	1	2	3	1	5	3	3	1	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:120464949G>C	uc001eik.3	-	27	5420	c.5123C>G	c.(5122-5124)tCt>tGt	p.S1708C		NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	1708					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGCCAGAGAGAGCCATGCTT	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				C	120464949	G	C	120464949	3	2	232	1	0	0	0	0	1	0	0	0	10624	942	33	4	2320	4	NOTCH2	1	120464949	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	25511476	120464949	128785672	2	16007											
FLG	2312	broad.mit.edu	37	chr1	152278815	152278815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgagtgcctggagccGtctcctgattgttcctcatt	5	13	10	13	1	2	2	1	2	1	0	4	4	3	3	5	1	2	1	5	1	0	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152278815G>A	uc001ezu.1	-	2	8583	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis				A	152278815	G	A	152278815	2	1	232	1	0	0	0	0	0	0	0	1	5971	1136	40	1		1	FLG	1	152278815	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	31813866	152278815	96971806	3	16008											
FLG	2312	broad.mit.edu	37	chr1	152280892	152280892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtccagacctatctaccGattgctcttggtgggacccc	7	11	10	13	1	2	1	0	0	2	1	3	3	3	2	5	2	2	1	5	2	2	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:152280892G>A	uc001ezu.1	-	2	6506	c.6470C>T	c.(6469-6471)tCg>tTg	p.S2157L		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2157	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S2157S(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTATCTACCGATTGCTCTTG	0.597									Ichthyosis				A	152280892	G	A	152280892	3	1	232	1	0	0	0	0	1	0	0	0	5971	1059	37	1	5719	1	FLG	1	152280892	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2077	152280892	96969729	4	16009											
SPTA1	6708	broad.mit.edu	37	chr1	158614180	158614180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttgatcacagttcccctGgaacatctatgaggaatcaa	14	10	7	10	0	3	2	2	2	1	0	4	4	4	4	2	2	2	1	2	2	5	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:158614180G>C	uc001fst.1	-	29	4400	c.4201C>G	c.(4201-4203)Cag>Gag	p.Q1401E		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1401					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.Q1401Q(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CAGTTCCCCTGGAACATCTAT	0.453													C	158614180	G	C	158614180	3	2	232	1	0	0	0	0	1	0	0	0	15212	1357	47	4	3150	4	SPTA1	1	158614180	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	6333288	158614180	90636441	5	16010											
F5	2153	broad.mit.edu	37	chr1	169525893	169525893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtttcttgccttgcaaatGttttggggtgagagaagata	10	14	13	4	0	1	3	0	1	1	2	1	5	1	3	1	2	2	3	1	2	3	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:169525893G>A	uc001ggg.1	-	5	1088	c.943C>T	c.(943-945)Cat>Tat	p.H315Y	F5_uc010plr.1_Non-coding_Transcript	NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	315	F5/8 type A 1.|Plastocyanin-like 2.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	CCTTGCAAATGTTTTGGGGTG	0.483													A	169525893	G	A	169525893	3	1	232	1	0	0	0	0	1	0	0	0	5390	1377	48	2	5811	2	F5	1	169525893	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	10911713	169525893	79724728	6	16011											
RGL1	23179	broad.mit.edu	37	chr1	183849845	183849845	+	Missense_Mutation	SNP	A	A	C																															cttacagaaactgctggattAtctcacacggatgatgccgg																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849845A>C	uc001gqm.3	+	5	1087	c.626A>C	c.(625-627)tAt>tCt	p.Y209S	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.Y172S|RGL1_uc010poh.2_Missense_Mutation_p.Y172S|RGL1_uc001gqo.3_Missense_Mutation_p.Y174S|RGL1_uc010poi.2_Missense_Mutation_p.Y174S	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	174					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.Y209S(4)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGCTGGATTATCTCACACGG	0.498													C	183849845	A	C	183849845	3	2	232	1	0	0	0	0	1	0	0	0	13364	449	16	5	644	5	RGL1	1	183849845	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	14323952	183849845	65400776	7	16012	19	2									
RGL1	23179	broad.mit.edu	37	chr1	183849848	183849848	+	Missense_Mutation	SNP	T	T	A																															acagaaactgctggattatcTcacacggatgatgccgggct																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:183849848T>A	uc001gqm.3	+	5	1090	c.629T>A	c.(628-630)cTc>cAc	p.L210H	RGL1_uc010pof.1_Intron|RGL1_uc010pog.2_Missense_Mutation_p.L173H|RGL1_uc010poh.2_Missense_Mutation_p.L173H|RGL1_uc001gqo.3_Missense_Mutation_p.L175H|RGL1_uc010poi.2_Missense_Mutation_p.L175H	NM_015149	NP_055964	Q9NZL6	RGL1_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 1 (RGL1), mRNA.	175					cellular lipid metabolic process|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	protein binding|Ral guanyl-nucleotide exchange factor activity	p.Y209S(2)		breast(5)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(17)|ovary(4)|prostate(3)|stomach(1)	51						CTGGATTATCTCACACGGATG	0.488													A	183849848	T	A	183849848	3	1	232	1	0	0	0	0	1	0	0	0	13364	1551	54	5	647	5	RGL1	1	183849848	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	3	183849848	65400773	8	16013	19	2									
ASPM	259266	broad.mit.edu	37	chr1	197112574	197112574	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctttctcattaaaagAaacttttgaaacgttggcac	14	13	6	8	1	1	2	1	1	1	1	2	2	1	2	0	1	4	3	0	1	5	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr1:197112574A>G	uc001gtu.3	-	2	1065	c.808T>C	c.(808-810)Tct>Cct	p.S270P	ASPM_uc001gtv.3_Missense_Mutation_p.S270P|ASPM_uc001gtw.4_Intron	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	270					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TCATTAAAAGAAACTTTTGAA	0.378													G	197112574	A	G	197112574	3	3	232	1	0	0	0	0	1	0	0	0	1061	246	9	3	9729	3	ASPM	1	197112574	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	13262726	197112574	52138047	9	16014											
PUM2	23369	broad.mit.edu	37	chr2	20482930	20482930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgagtgccaattggccGaaacagaccatttgtgctgc	9	10	12	10	1	0	2	0	1	0	1	0	3	0	2	3	2	4	2	3	2	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:20482930G>A	uc002rds.1	-	10	1516	c.1498C>T	c.(1498-1500)Cgg>Tgg	p.R500W	PUM2_uc002rdt.1_Missense_Mutation_p.R500W|PUM2_uc002rdr.2_Missense_Mutation_p.R439W|PUM2_uc010yjy.1_Missense_Mutation_p.R500W|PUM2_uc002rdu.1_Missense_Mutation_p.R500W|PUM2_uc010yjz.1_Missense_Mutation_p.R439W	NM_015317	NP_056132	Q8TB72	PUM2_HUMAN	Homo sapiens pumilio homolog 2 (Drosophila) (PUM2), mRNA.	500					regulation of translation	perinuclear region of cytoplasm|stress granule	protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(7)|lung(13)|ovary(2)|prostate(4)|urinary_tract(3)	42	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAATTGGCCGAAACAGACCA	0.453													A	20482930	G	A	20482930	3	1	232	1	0	0	0	0	1	0	0	0	12914	1057	37	1	1736	1	PUM2	2	20482930	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		20482930	222716443	10	16015											
QPCT	25797	broad.mit.edu	37	chr2	37599531	37599531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgaattgggtttgctcaagGatcactctttggaggggcgg	8	12	15	6	1	3	1	2	1	1	0	3	3	3	3	0	6	1	2	0	6	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:37599531G>A	uc002rqg.3	+	5	978	c.856G>A	c.(856-858)Gat>Aat	p.D286N		NM_012413	NP_036545	Q16769	QPCT_HUMAN	Homo sapiens glutaminyl-peptide cyclotransferase (QPCT), mRNA.	286					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				TTTGCTCAAGGATCACTCTTT	0.358													A	37599531	G	A	37599531	3	1	232	1	0	0	0	0	1	0	0	0	12962	1174	41	2	878	2	QPCT	2	37599531	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	17116601	37599531	205599842	11	16016											
SLC5A7	60482	broad.mit.edu	37	chr2	108614387	108614387	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacactggtgggagggcTctattctgtggcctacactg	7	11	13	10	0	2	0	0	0	2	0	2	1	2	1	1	4	2	2	1	4	3	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:108614387T>A	uc002tdv.3	+	4	818	c.542T>A	c.(541-543)cTc>cAc	p.L181H	SLC5A7_uc010ywm.2_5'UTR|SLC5A7_uc010fjj.3_Missense_Mutation_p.L181H|SLC5A7_uc010ywn.2_Missense_Mutation_p.L68H	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	181					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GTGGGAGGGCTCTATTCTGTG	0.473													A	108614387	T	A	108614387	3	1	232	1	0	0	0	0	1	0	0	0	14764	1551	54	5	556	5	SLC5A7	2	108614387	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	71014856	108614387	134584986	12	16017											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530385	125530385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggtttcagctccttcagAgatcacctttgccatcgatg	7	13	8	13	2	3	1	3	0	0	1	6	3	5	1	4	1	2	2	4	1	0	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:125530385A>G	uc010flu.3	+	16	2907	c.2543A>G	c.(2542-2544)gAg>gGg	p.E848G	CNTNAP5_uc002tno.3_Missense_Mutation_p.E847G	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	847	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GCTCCTTCAGAGATCACCTTT	0.488													G	125530385	A	G	125530385	3	3	232	1	0	0	0	0	1	0	0	0	3681	304	11	3	2606	3	CNTNAP5	2	125530385	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	16915998	125530385	117668988	13	16018											
SCN7A	6332	broad.mit.edu	37	chr2	167273364	167273364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacctttctccacttgttggGtcaatgcattcatagaatct	10	15	6	10	0	4	1	2	0	2	1	5	1	4	1	2	1	2	2	2	1	4	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:167273364G>A	uc002udu.2	-	19	3397	c.3267C>T	c.(3265-3267)gaC>gaT	p.D1089D	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1089					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						CACTTGTTGGGTCAATGCATT	0.398													A	167273364	G	A	167273364	2	1	232	1	0	0	0	0	0	0	0	1	14016	1252	44	2		2	SCN7A	2	167273364	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	41742979	167273364	75926009	14	16019											
TTN	7273	broad.mit.edu	37	chr2	179453519	179453519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaccacagtcatctctTctttgcttactttagtgact	9	16	4	12	0	3	1	1	1	2	0	5	1	4	1	2	0	3	1	2	0	3	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179453519T>C	uc021vsy.1	-	252	55454	c.55229A>G	c.(55228-55230)gAa>gGa	p.E18410G	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E12105G|TTN_uc021vta.1_Missense_Mutation_p.E12038G|TTN_uc021vtb.1_Missense_Mutation_p.E11913G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	19337	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.T18410fs*15(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCATCTCTTCTTTGCTTAC	0.438													C	179453519	T	C	179453519	3	2	232	1	0	0	0	0	1	0	0	0	16837	1783	62	3	45282	3	TTN	2	179453519	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	12180155	179453519	63745854	15	16020											
TTN	7273	broad.mit.edu	37	chr2	179522849	179522849	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgggtggagccacgggaaTttctttttctgcggcttctt	4	17	12	8	2	3	0	0	0	3	0	3	2	3	2	1	4	2	1	1	4	1	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:179522849T>A	uc021vsy.1	-						MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc010fre.1_Intron|TTN_uc010zfk.1_Missense_Mutation_p.I675F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCACGGGAATTTCTTTTTCT	0.413													A	179522849	T	A	179522849	3	1	232	1	0	0	0	0	1	0	0	0	16837	1508	52	5		5	TTN	2	179522849	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	69330	179522849	63676524	16	16021											
STAT1	6772	broad.mit.edu	37	chr2	191862990	191862990	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcttcttgagtaacagctGttcttgtttctgatcactct	7	18	6	10	0	6	2	1	2	5	0	6	2	6	2	0	0	2	4	0	0	1	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191862990G>A	uc010fse.2	-	6	1018	c.586C>T	c.(586-588)Cag>Tag	p.Q196*	STAT1_uc021vue.1_Intron|STAT1_uc002usj.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usk.2_Nonsense_Mutation_p.Q196*|STAT1_uc002usl.2_Nonsense_Mutation_p.Q198*|STAT1_uc010fsf.1_Intron	NM_007315	NP_009330	P42224	STAT1_HUMAN	Homo sapiens signal transducer and activator of transcription 1, 91kDa (STAT1), transcript variant alpha, mRNA.	196					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AGTAACAGCTGTTCTTGTTTC	0.343													A	191862990	G	A	191862990	4	1	232	1	0	0	0	0	0	1	0	0	15360	1386	48	2	1742	2	STAT1	2	191862990	Nonsense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	12340141	191862990	51336383	17	16022											
STAT4	6775	broad.mit.edu	37	chr2	191926501	191926501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttaagtaccaacggccTctgagggtgggttggcatac	8	11	14	8	1	1	1	0	1	1	0	1	1	1	1	2	5	3	4	2	5	4	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:191926501T>C	uc002usm.2	-	9	1303	c.988A>G	c.(988-990)Agg>Ggg	p.R330G	STAT4_uc002usn.2_Missense_Mutation_p.R330G|STAT4_uc010zgk.1_Missense_Mutation_p.R175G|STAT4_uc002uso.2_Missense_Mutation_p.R330G	NM_003151	NP_003142	Q14765	STAT4_HUMAN	Homo sapiens signal transducer and activator of transcription 4 (STAT4), transcript variant 1, mRNA.	330					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			ACCAACGGCCTCTGAGGGTGG	0.403													C	191926501	T	C	191926501	3	2	232	1	0	0	0	0	1	0	0	0	15363	1550	54	3	1318	3	STAT4	2	191926501	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	63511	191926501	51272872	18	16023											
SPHKAP	80309	broad.mit.edu	37	chr2	228883868	228883868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagaccacagacagccaCggcactggccacctgagtca	12	3	9	17	1	1	3	1	1	0	2	1	3	1	3	5	2	1	1	5	2	0	0	rs149295795	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr2:228883868C>T	uc002vpq.2	-	6	1749	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	SPHKAP_uc002vpp.2_Missense_Mutation_p.V568M|SPHKAP_uc010zlx.1_Missense_Mutation_p.V568M	NM_001142644	NP_001136116	Q2M3C7	SPKAP_HUMAN	Homo sapiens SPHK1 interactor, AKAP domain containing (SPHKAP), transcript variant 1, mRNA.	568						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CAGACAGCCACGGCACTGGCC	0.562													T	228883868	C	T	228883868	3	4	232	1	0	0	0	0	1	0	0	0	15144	536	19	1	3424	1	SPHKAP	2	228883868	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	36957367	228883868	14315505	19	16024											
C3orf45	132228	broad.mit.edu	37	chr3	50324238	50324238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagggttcctgctgctgctCgcgctgctggtgctcacttg	2	12	15	12	2	1	0	1	0	0	0	3	1	2	1	1	3	5	7	1	3	0	2	rs116862338	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:50324238C>T	uc003cyz.3	+	2	333	c.306C>T	c.(304-306)ctC>ctT	p.L102L		NM_153215	NP_694947	Q8N112	CC045_HUMAN	Homo sapiens chromosome 3 open reading frame 45 (C3orf45), mRNA.	102						integral to membrane				endometrium(2)|kidney(3)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCTGCTGCTCGCGCTGCTGG	0.617													T	50324238	C	T	50324238	2	4	232	1	0	0	0	0	0	0	0	1	2252	871	31	1		1	C3orf45	3	50324238	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08		50324238	147698192	20	16025											
STAB1	23166	broad.mit.edu	37	chr3	52540843	52540843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcccaagcactgcagcGaggagcagcacaagattgtg	11	6	12	12	1	0	1	0	0	0	1	1	3	1	2	2	1	6	4	2	1	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:52540843G>A	uc003dej.3	+	17	2040	c.1966G>A	c.(1966-1968)Gag>Aag	p.E656K	STAB1_uc003dei.1_Missense_Mutation_p.E656K	NM_015136	NP_055951	Q9NY15	STAB1_HUMAN	Homo sapiens stabilin 1 (STAB1), mRNA.	656					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCACTGCAGCGAGGAGCAGCA	0.642													A	52540843	G	A	52540843	3	1	232	1	0	0	0	0	1	0	0	0	15333	1059	37	1	2036	1	STAB1	3	52540843	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2216605	52540843	145481587	21	16026											
C3orf67	200844	broad.mit.edu	37	chr3	58856003	58856003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgatttttactgttccGtgtaatacttgttcctctgt	6	21	6	8	1	2	1	0	1	2	0	4	1	4	1	2	0	2	3	2	0	3	9			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:58856003G>A	uc003dkt.1	-	7	782	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	C3orf67_uc003dks.1_5'Flank|AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R33W	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	125										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTACTGTTCCGTGTAATACTT	0.378													A	58856003	G	A	58856003	3	1	232	1	0	0	0	0	1	0	0	0	2262	1144	40	1	1354	1	C3orf67	3	58856003	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	6315160	58856003	139166427	22	16027											
TBC1D23	55773	broad.mit.edu	37	chr3	100002647	100002648	+	Frame_Shift_Ins	INS	-	-	A																															atgccataatgaataagtacINSattcccaggtaaaatatgat																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:100002647_100002648insA	uc003dtt.3	+	3	645_646	c.468_469insA	c.(466-471)tacattfs	p.Y156fs	TBC1D23_uc003dts.3_Frame_Shift_Ins_p.Y156fs	NM_001199198	NP_001186127	Q9NUY8	TBC23_HUMAN	Homo sapiens TBC1 domain family, member 23 (TBC1D23), transcript variant 1, mRNA.	156	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TGAATAAGTACATTCCCAGGTA	0.381													A	100002648	-	A	100002647	7	5	232	1	0	1	1	0	0	0	0	0	15710	489	17	0	482	0	TBC1D23	3	100002647	Frame_Shift_Ins	INS	-	TCGA-32-2632-01A-01D-1495-08	41146644	100002647	98019783	23	16028											
KIAA1524	57650	broad.mit.edu	37	chr3	108279495	108279495	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattgctattttttcactcaCcaccattccagactgaagtt	11	15	4	11	0	2	2	2	1	0	1	3	2	3	2	3	0	1	2	3	0	3	7			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:108279495C>T	uc003dxb.4	-	14	2096	c.1827_splice	c.e14+1	p.V609_splice		NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN	Homo sapiens KIAA1524 (KIAA1524), mRNA.	609						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TTTTCACTCACCACCATTCCA	0.328													T	108279495	C	T	108279495	5	4	232	1	0	0	0	0	0	0	1	0	8297	521	18	2	921	2	KIAA1524	3	108279495	Splice_Site	SNP	C	TCGA-32-2632-01A-01D-1495-08	8276848	108279495	89742935	24	16029											
COL6A5	256076	broad.mit.edu	37	chr3	130174429	130174429	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actatttggtttaccttccaAgccaaatgtttgagccacaa	12	13	6	10	0	0	1	0	1	0	0	1	1	1	1	4	1	3	2	4	1	5	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:130174429A>T	uc010htj.1	+	36	7203	c.6709A>T	c.(6709-6711)Agc>Tgc	p.S2237C	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.S276C|COL6A5_uc010htk.1_Missense_Mutation_p.S276C	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2237	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTACCTTCCAAGCCAAATGTT	0.358													T	130174429	A	T	130174429	3	4	232	1	0	0	0	0	1	0	0	0	3733	72	3	5	6851	5	COL6A5	3	130174429	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	21894934	130174429	67848001	25	16030											
LEKR1	389170	broad.mit.edu	37	chr3	156763371	156763371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaaattcccaacctgcgCggggtgtcaaaacccaccac	12	6	7	16	2	1	0	1	0	0	0	3	0	3	0	5	2	3	0	5	2	4	1	rs144318565		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr3:156763371C>T	uc021xgh.1	+	12	2025	c.1911C>T	c.(1909-1911)cgC>cgT	p.R637R	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CCAACCTGCGCGGGGTGTCAA	0.552													T	156763371	C	T	156763371	2	4	232	1	0	0	0	0	0	0	0	1	8776	755	27	1		1	LEKR1	3	156763371	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	26588942	156763371	41259059	26	16031											
GPR78	27201	broad.mit.edu	37	chr4	8588808	8588808	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcgtgcccttcgtcacCgtgaacgcccagtggggcat	6	8	13	14	4	1	1	1	1	0	0	3	2	1	1	3	2	3	2	3	2	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:8588808C>T	uc003glk.3	+	2	1303	c.810C>T	c.(808-810)acC>acT	p.T270T	GPR78_uc021xlj.1_Non-coding_Transcript|CPZ_uc003gll.3_Intron	NM_080819	NP_543009	Q96P69	GPR78_HUMAN	Homo sapiens G protein-coupled receptor 78 (GPR78), transcript variant 1, mRNA.	270					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						CCTTCGTCACCGTGAACGCCC	0.662													T	8588808	C	T	8588808	2	4	232	1	0	0	0	0	0	0	0	1	6764	639	23	1		1	GPR78	4	8588808	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08		8588808	182565468	27	16032											
CENPE	1062	broad.mit.edu	37	chr4	104044141	104044141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaatgtttggtagttttTaaatagtttttcatttttct	8	24	5	4	0	3	0	2	0	1	0	3	0	3	0	0	1	0	4	0	1	5	11			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:104044141T>C	uc003hxb.1	-	42	7120	c.7030A>G	c.(7030-7032)Aaa>Gaa	p.K2344E	CENPE_uc003hxc.1_Missense_Mutation_p.K2223E	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	2344	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGGTAGTTTTTAAATAGTTTT	0.378													C	104044141	T	C	104044141	3	2	232	1	0	0	0	0	1	0	0	0	3260	1763	61	3	1103	3	CENPE	4	104044141	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	95455333	104044141	87110135	28	16033											
ING2	3622	broad.mit.edu	37	chr4	184431464	184431464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaaattgatgatgtctacGaaaaatataagaaagaagat	21	9	9	2	1	1	5	0	2	1	3	1	7	1	6	0	1	1	0	0	1	8	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr4:184431464G>A	uc003ivs.1	+	1	331	c.202G>A	c.(202-204)Gaa>Aaa	p.E68K	ING2_uc011ckk.1_Missense_Mutation_p.E28K	NM_001564	NP_001555	Q9H160	ING2_HUMAN	Homo sapiens inhibitor of growth family, member 2 (ING2), mRNA.	68					chromatin modification|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of growth|signal transduction|transcription, DNA-dependent	CCAAT-binding factor complex|Sin3 complex	chromatin binding|DNA binding|protein complex binding|zinc ion binding	p.E68K(2)|p.Y67C(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	7		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00139)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|all_hematologic(60;0.0207)|Prostate(90;0.0235)|all_neural(102;0.202)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGATGTCTACGAAAAATATAA	0.318													A	184431464	G	A	184431464	3	1	232	1	0	0	0	0	1	0	0	0	7794	1059	37	1	208	1	ING2	4	184431464	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	80387323	184431464	6722812	29	16034											
SLC6A18	348932	broad.mit.edu	37	chr5	1244741	1244741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttctgcgatgacattgcGtggatgaccgggaggcggcc	7	8	17	9	4	1	2	0	2	1	0	1	5	1	4	2	5	2	1	2	5	0	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:1244741G>A	uc003jby.2	+	10	1638	c.1515G>A	c.(1513-1515)gcG>gcA	p.A505A		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	505					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			ATGACATTGCGTGGATGACCG	0.612													A	1244741	G	A	1244741	2	1	232	1	0	0	0	0	0	0	0	1	14775	1132	40	1		1	SLC6A18	5	1244741	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		1244741	179670519	30	16035											
BASP1	10409	broad.mit.edu	37	chr5	17275800	17275800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcccgcagctcctgccGcccaggagaccaaaagtgac	10	3	12	16	3	0	2	0	1	0	1	1	3	1	2	5	2	2	2	5	2	2	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:17275800G>A	uc003jfx.3	+	1	654	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	BASP1_uc021xws.1_Missense_Mutation_p.A159T	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	159					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						AGCTCCTGCCGCCCAGGAGAC	0.711													A	17275800	G	A	17275800	3	1	232	1	0	0	0	0	1	0	0	0	1322	1087	38	1	477	1	BASP1	5	17275800	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16031059	17275800	163639460	31	16036											
DDX4	54514	broad.mit.edu	37	chr5	55083676	55083676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcaacttaacttctaggcGgcttttctcctaccaatttt	10	15	5	11	1	2	0	0	0	2	0	3	0	2	0	2	2	4	2	2	2	6	8			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:55083676G>A	uc003jqg.4	+	14	1119	c.1020G>A	c.(1018-1020)gcG>gcA	p.A340A	DDX4_uc010ivz.3_Silent_p.A320A|DDX4_uc003jqh.4_Silent_p.A306A|DDX4_uc003jqj.3_Silent_p.A191A	NM_024415	NP_077726	Q9NQI0	DDX4_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 4 (DDX4), transcript variant 1, mRNA.	340	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACTTCTAGGCGGCTTTTCTCC	0.383													A	55083676	G	A	55083676	2	1	232	1	0	0	0	0	0	0	0	1	4394	1103	39	1		1	DDX4	5	55083676	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	37807876	55083676	125831584	32	16037											
DMGDH	29958	broad.mit.edu	37	chr5	78340364	78340364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcattttacctacttcacGagcccaaaatccttaaacaa	16	11	2	12	1	2	0	2	0	0	0	3	1	3	0	3	0	4	0	3	0	8	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:78340364G>A	uc003kfs.3	-	5	763	c.757C>T	c.(757-759)Cgt>Tgt	p.R253C	DMGDH_uc011cte.1_Missense_Mutation_p.R103C|DMGDH_uc011ctf.1_Missense_Mutation_p.R52C|DMGDH_uc011ctg.1_Intron	NM_013391	NP_037523	Q9UI17	M2GD_HUMAN	Homo sapiens dimethylglycine dehydrogenase (DMGDH), nuclear gene encoding mitochondrial protein, mRNA.	253					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CCTACTTCACGAGCCCAAAAT	0.318													A	78340364	G	A	78340364	3	1	232	1	0	0	0	0	1	0	0	0	4620	1058	37	1	1887	1	DMGDH	5	78340364	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	23256688	78340364	102574896	33	16038											
FAM81B	153643	broad.mit.edu	37	chr5	94749817	94749817	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctttcgaaaagaggaaTcgctcgccaggaagttactg	12	9	12	8	3	0	1	0	0	0	1	3	4	0	3	1	3	1	3	1	3	5	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:94749817T>A	uc003kla.1	+	3	506	c.460T>A	c.(460-462)Tcg>Acg	p.S154T	FAM81B_uc010jbe.1_5'UTR	NM_152548	NP_689761	Q96LP2	FA81B_HUMAN	Homo sapiens family with sequence similarity 81, member B (FAM81B), mRNA.	154								p.S154L(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AAAAGAGGAATCGCTCGCCAG	0.478													A	94749817	T	A	94749817	3	1	232	1	0	0	0	0	1	0	0	0	5679	1435	50	5	474	5	FAM81B	5	94749817	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	16409453	94749817	86165443	34	16039											
RAPGEF6	51735	broad.mit.edu	37	chr5	130940379	130940379	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagataagaataaatagtaTttaagtcctgtggaacagaa	19	10	9	3	0	0	3	0	0	0	3	1	5	1	4	1	1	1	1	1	1	10	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:130940379T>A	uc003kvn.2	-	1	283	c.77A>T	c.(76-78)aAt>aTt	p.N26I	RAPGEF6_uc003kvp.2_Missense_Mutation_p.N76I|RAPGEF6_uc003kvo.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdi.2_Missense_Mutation_p.N26I|RAPGEF6_uc010jdj.2_Missense_Mutation_p.N26I|RAPGEF6_uc011cxe.2_Non-coding_Transcript|RAPGEF6_uc003kvr.3_Missense_Mutation_p.N26I|RAPGEF6_uc010jdk.3_Missense_Mutation_p.N26I	NM_016340	NP_057424	Q8TEU7	RPGF6_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 6 (RAPGEF6), transcript variant 2, mRNA.	26					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		ATAAATAGTATTTAAGTCCTG	0.318													A	130940379	T	A	130940379	3	1	232	1	0	0	0	0	1	0	0	0	13136	1493	52	5	5322	5	RAPGEF6	5	130940379	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	36190562	130940379	49974881	35	16040											
FBXO38	81545	broad.mit.edu	37	chr5	147796556	147796556	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttttggttttgccttaGggttgtgctcgagttggtct	2	20	14	5	1	1	0	0	0	1	0	2	1	1	0	1	3	2	5	1	3	1	7			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796556G>C	uc003lpf.1	+	12	1528	c.1408_splice	c.e12-1	p.G470_splice	FBXO38_uc003lpg.1_Splice_Site_p.G470_splice|FBXO38_uc003lph.2_Splice_Site_p.G470_splice	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	470						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCCTTAGGGTTGTGCTC	0.368													C	147796556	G	C	147796556	5	2	232	1	0	0	0	0	0	0	1	0	5795	1014	35	4	1449	4	FBXO38	5	147796556	Splice_Site	SNP	G	TCGA-32-2632-01A-01D-1495-08	16856177	147796556	33118704	36	16041											
FBXO38	81545	broad.mit.edu	37	chr5	147796638	147796638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaccagaactccaacaatGacgataataatgcccagaat	18	6	6	11	1	0	3	0	1	0	2	1	4	1	3	3	0	4	1	3	0	7	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:147796638G>C	uc003lpf.1	+	11	1609	c.1489G>C	c.(1489-1491)Gac>Cac	p.D497H	FBXO38_uc003lpg.1_Missense_Mutation_p.D497H|FBXO38_uc003lph.2_Missense_Mutation_p.D497H	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	497						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCAACAATGACGATAATAA	0.453													C	147796638	G	C	147796638	3	2	232	1	0	0	0	0	1	0	0	0	5795	1290	45	4	1531	4	FBXO38	5	147796638	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	82	147796638	33118622	37	16042											
NIPAL4	348938	broad.mit.edu	37	chr5	156890242	156890242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actatggcttctacatcggcCtgggcctggcattcctgtct	5	13	10	13	1	2	0	0	0	2	0	4	0	3	0	3	4	1	2	3	4	2	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:156890242C>G	uc003lwx.4	+	1	480	c.364C>G	c.(364-366)Ctg>Gtg	p.L122V	ADAM19_uc003lww.2_Intron|NIPAL4_uc011ddq.2_Missense_Mutation_p.L122V|NIPAL4_uc010jin.1_Silent_p.A56A	NM_001099287	NP_001092757	Q0D2K0	NIPA4_HUMAN	Homo sapiens NIPA-like domain containing 4 (NIPAL4), transcript variant 1, mRNA.	122						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CTACATCGGCCTGGGCCTGGC	0.577													G	156890242	C	G	156890242	3	3	232	1	0	0	0	0	1	0	0	0	10503	680	24	4	370	4	NIPAL4	5	156890242	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9093604	156890242	24025018	38	16043											
GABRA1	2554	broad.mit.edu	37	chr5	161324318	161324318	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtcagcaaaattgacCgactgtcaagaatagccttc	14	9	8	10	1	2	2	2	1	0	1	3	3	2	2	2	0	2	1	2	0	5	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr5:161324318C>T	uc010jiw.3	+	10	1729	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	GABRA1_uc010jix.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.R421*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.R421*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jja.3_Nonsense_Mutation_p.R421*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.R421*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	421					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.D420Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CAAAATTGACCGACTGTCAAG	0.443													T	161324318	C	T	161324318	4	4	232	1	0	0	0	0	0	1	0	0	6212	644	23	1	1295	1	GABRA1	5	161324318	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	4434076	161324318	19590942	39	16044											
MCHR2	84539	broad.mit.edu	37	chr6	100382322	100382322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcccaagtatagcataaaAttaaaatatagcacaccaaa	20	9	3	9	0	1	0	0	0	1	0	2	0	1	0	2	0	2	3	2	0	10	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100382322A>G	uc003pqh.1	-	4	974	c.659T>C	c.(658-660)aTt>aCt	p.I220T	MCHR2_uc003pqi.1_Missense_Mutation_p.I220T	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	220						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ATAGCATAAAATTAAAATATA	0.328													G	100382322	A	G	100382322	3	3	232	1	0	0	0	0	1	0	0	0	9458	101	4	3	371	3	MCHR2	6	100382322	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08		100382322	70732745	40	16045											
MCHR2	84539	broad.mit.edu	37	chr6	100395726	100395726	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgcagagaggcccccCaaacacccactctccccctc	9	5	8	19	0	1	1	0	0	1	1	3	3	1	1	6	2	2	1	6	2	1	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:100395726C>A	uc003pqh.1	-	2	619	c.304G>T	c.(304-306)Ggg>Tgg	p.G102W	MCHR2_uc003pqi.1_Missense_Mutation_p.G102W	NM_001040179	NP_115892	Q969V1	MCHR2_HUMAN	Homo sapiens melanin-concentrating hormone receptor 2 (MCHR2), transcript variant 1, mRNA.	102						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AGAGGCCCCCCAAACACCCAC	0.488													A	100395726	C	A	100395726	3	1	232	1	0	0	0	0	1	0	0	0	9458	594	21	4	734	4	MCHR2	6	100395726	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	13404	100395726	70719341	41	16046											
HDAC2	3066	broad.mit.edu	37	chr6	114265495	114265495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcatctccactgtcttcatGaacagcatcttctggaatag	10	14	6	11	0	6	1	2	1	4	0	7	2	6	2	1	1	2	1	1	1	3	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:114265495G>C	uc003pwd.2	-	10	1458	c.1171C>G	c.(1171-1173)Cat>Gat	p.H391D	HDAC2_uc003pwc.2_Missense_Mutation_p.H361D|HDAC2_uc003pwe.2_Missense_Mutation_p.H361D	NM_001527	NP_001518	Q92769	HDAC2_HUMAN	Homo sapiens histone deacetylase 2 (HDAC2), transcript variant 1, mRNA.	391					blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CTGTCTTCATGAACAGCATCT	0.363													C	114265495	G	C	114265495	3	2	232	1	0	0	0	0	1	0	0	0	7062	1290	45	4	311	4	HDAC2	6	114265495	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	13869769	114265495	56849572	42	16047											
MAP7	9053	broad.mit.edu	37	chr6	136682257	136682257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccagcctgcgcgactcCtcctcacggcgagtcgtcct	4	9	10	18	5	1	0	1	0	0	0	6	2	5	0	5	1	2	1	5	1	0	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr6:136682257C>T	uc011edg.2	-	11	1926	c.1677G>A	c.(1675-1677)gaG>gaA	p.E559E	MAP7_uc011edf.2_Silent_p.E514E|MAP7_uc010kgu.3_Silent_p.E551E|MAP7_uc011edh.2_Silent_p.E514E|MAP7_uc010kgv.3_Silent_p.E551E|MAP7_uc010kgs.3_Silent_p.E383E|MAP7_uc011edi.2_Silent_p.E383E|MAP7_uc010kgq.2_Silent_p.E435E|MAP7_uc003qgz.3_Silent_p.E529E|MAP7_uc003qha.2_Silent_p.E492E	NM_001198609	NP_001185538	Q14244	MAP7_HUMAN	Homo sapiens microtubule-associated protein 7 (MAP7), transcript variant 3, mRNA.	529					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TGCGCGACTCCTCCTCACGGC	0.617													T	136682257	C	T	136682257	2	4	232	1	0	0	0	0	0	0	0	1	9341	680	24	2		2	MAP7	6	136682257	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	22416762	136682257	34432810	43	16048											
ABCB5	340273	broad.mit.edu	37	chr7	20744386	20744386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggaaaacagcacaggaGgcttgacaacaatattagcc	19	5	9	8	0	0	1	0	1	0	0	0	3	0	3	1	3	4	2	1	3	8	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:20744386G>A	uc010kuh.3	+	19	2614	c.2377G>A	c.(2377-2379)Ggc>Agc	p.G793S	ABCB5_uc003suw.4_Missense_Mutation_p.G348S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	348	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGCACAGGAGGCTTGACAAC	0.328													A	20744386	G	A	20744386	3	1	232	1	0	0	0	0	1	0	0	0	44	1000	35	2	2492	2	ABCB5	7	20744386	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		20744386	138394277	44	16049											
CHN2	1124	broad.mit.edu	37	chr7	29539600	29539600	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacacttgtgaaggctcAcaacactcagagacccatgg	14	6	8	13	0	2	2	2	1	0	1	2	3	2	2	1	2	2	1	1	2	3	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:29539600A>C	uc003szz.3	+	8	1294	c.857A>C	c.(856-858)cAc>cCc	p.H286P	CHN2_uc011jzs.2_Missense_Mutation_p.H361P|CHN2_uc010kva.3_Missense_Mutation_p.H56P|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Missense_Mutation_p.H251P|CHN2_uc011jzt.2_Missense_Mutation_p.H299P|CHN2_uc010kvd.3_Missense_Mutation_p.H142P|CHN2_uc011jzu.2_Missense_Mutation_p.H271P|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Missense_Mutation_p.H150P|CHN2_uc010kve.3_Missense_Mutation_p.H150P|CHN2_uc003taa.3_Missense_Mutation_p.H150P|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Missense_Mutation_p.H150P|CHN2_uc010kvj.3_Missense_Mutation_p.H105P|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Missense_Mutation_p.H105P|CHN2_uc011jzv.2_Missense_Mutation_p.H79P	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	286	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						GTGAAGGCTCACAACACTCAG	0.413													C	29539600	A	C	29539600	3	2	232	1	0	0	0	0	1	0	0	0	3393	159	6	5	1059	5	CHN2	7	29539600	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08	8795214	29539600	129599063	45	16050											
CCDC129	223075	broad.mit.edu	37	chr7	31682400	31682400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggactgtcagctagagtcGgatgggccagattccaaaag	12	7	13	9	1	1	2	1	0	0	2	3	4	2	4	2	3	1	1	2	3	3	2	rs146986060		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:31682400G>A	uc011kae.2	+	10	1506	c.1494G>A	c.(1492-1494)tcG>tcA	p.S498S	CCDC129_uc011kad.1_Silent_p.S482S|CCDC129_uc003tcj.1_Silent_p.S472S|CCDC129_uc003tci.1_Silent_p.S323S|CCDC129_uc003tck.1_Silent_p.S380S	NM_194300	NP_919276	Q6ZRS4	CC129_HUMAN	Homo sapiens coiled-coil domain containing 129 (CCDC129), mRNA.	472										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AGCTAGAGTCGGATGGGCCAG	0.502													A	31682400	G	A	31682400	2	1	232	1	0	0	0	0	0	0	0	1	2790	1103	39	1		1	CCDC129	7	31682400	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	2142800	31682400	127456263	46	16051											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:55210075T>G	uc003tqk.3	+	1	431	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_uc003tqh.3_Missense_Mutation_p.L62R|EGFR_uc003tqi.3_Missense_Mutation_p.L62R|EGFR_uc003tqj.3_Missense_Mutation_p.L62R|EGFR_uc022adm.1_Missense_Mutation_p.L62R|EGFR_uc010kzg.2_Missense_Mutation_p.L62R|EGFR_uc022adn.1_Missense_Mutation_p.L62R|EGFR_uc011kco.2_Missense_Mutation_p.L9R	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.L62R(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55210075	T	G	55210075	3	3	232	1	0	0	0	0	1	0	0	0	5006	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	23527675	55210075	103928588	47	16052											
CALN1	83698	broad.mit.edu	37	chr7	71275350	71275350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctgtttggcagttccccGaggtctcattcaggctctct	5	14	9	13	1	4	0	2	0	3	0	7	1	5	0	2	3	0	4	2	3	0	3	rs143545775		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:71275350G>A	uc003twb.4	-	5	1020	c.629C>T	c.(628-630)tCg>tTg	p.S210L	CALN1_uc003twa.4_Missense_Mutation_p.S168L|CALN1_uc003twc.4_Missense_Mutation_p.S168L	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	168						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding	p.S168L(1)		biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCAGTTCCCCGAGGTCTCATT	0.507													A	71275350	G	A	71275350	3	1	232	1	0	0	0	0	1	0	0	0	2617	1059	37	1	164	1	CALN1	7	71275350	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16065275	71275350	87863313	48	16053											
PIK3CG	5294	broad.mit.edu	37	chr7	106508826	106508826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggattttgtgctgcgcGtctgtggccgggatgagtac	7	11	15	8	3	1	1	0	1	1	0	1	3	1	3	1	3	4	2	1	3	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106508826G>A	uc003vdv.4	+	1	905	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	PIK3CG_uc003vdu.3_Missense_Mutation_p.V274I|PIK3CG_uc003vdw.3_Missense_Mutation_p.V274I	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	274					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	p.V274I(2)		breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TGTGCTGCGCGTCTGTGGCCG	0.542													A	106508826	G	A	106508826	3	1	232	1	0	0	0	0	1	0	0	0	11993	1145	40	1	822	1	PIK3CG	7	106508826	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	35233476	106508826	52629837	49	16054											
PIK3CG	5294	broad.mit.edu	37	chr7	106509352	106509352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcaaggcctctgcagagtCccccagttctgagtccaagg	9	7	11	14	0	2	2	0	1	2	1	4	2	4	2	4	2	2	3	4	2	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:106509352C>T	uc003vdv.4	+	1	1431	c.1346C>T	c.(1345-1347)tCc>tTc	p.S449F	PIK3CG_uc003vdu.3_Missense_Mutation_p.S449F|PIK3CG_uc003vdw.3_Missense_Mutation_p.S449F	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	449					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						TCTGCAGAGTCCCCCAGTTCT	0.517													T	106509352	C	T	106509352	3	4	232	1	0	0	0	0	1	0	0	0	11993	855	30	2	1348	2	PIK3CG	7	106509352	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	526	106509352	52629311	50	16055											
GCC1	79571	broad.mit.edu	37	chr7	127222169	127222169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatagtcagtatggctgtgaGagtctgctggcggcccaggg	7	9	17	8	1	2	1	1	1	1	1	2	3	2	1	1	4	1	3	1	4	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:127222169G>C	uc003vma.3	-	1	2645	c.2227C>G	c.(2227-2229)Ctc>Gtc	p.L743V		NM_024523	NP_078799	Q96CN9	GCC1_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 1 (GCC1), mRNA.	743	GRIP.					Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						ATGGCTGTGAGAGTCTGCTGG	0.542													C	127222169	G	C	127222169	3	2	232	1	0	0	0	0	1	0	0	0	6339	942	33	4	104	4	GCC1	7	127222169	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	20712817	127222169	31916494	51	16056											
MGAM	8972	broad.mit.edu	37	chr7	141736628	141736628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatttcctcccaggaccaGgatcctgcctcctttggagc	6	11	8	16	0	0	0	0	0	0	0	4	3	4	3	7	3	2	0	7	3	1	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:141736628G>T	uc003vwy.3	+	17	2136	c.2082G>T	c.(2080-2082)caG>caT	p.Q694H		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	694	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCCAGGACCAGGATCCTGCCT	0.483													T	141736628	G	T	141736628	3	4	232	1	0	0	0	0	1	0	0	0	9616	991	35	4	2148	4	MGAM	7	141736628	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	14514459	141736628	17402035	52	16057											
CNTNAP2	26047	broad.mit.edu	37	chr7	146825878	146825878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatcaactacaatggcGtcaacattactgatcttgcc	14	10	6	11	1	3	1	2	1	1	0	3	1	3	1	1	1	6	1	1	1	6	3	rs145832489		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:146825878G>A	uc003weu.2	+	6	1549	c.1033G>A	c.(1033-1035)Gtc>Atc	p.V345I		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	345	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.V345I(2)|p.G344G(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTACAATGGCGTCAACATTAC	0.413										HNSCC(39;0.1)			A	146825878	G	A	146825878	3	1	232	1	0	0	0	0	1	0	0	0	3678	1145	40	1	1059	1	CNTNAP2	7	146825878	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5089250	146825878	12312785	53	16058											
SSPO	23145	broad.mit.edu	37	chr7	149517991	149517991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcaggatggtggctgcGtgccaattgggcactgtgac	7	9	17	8	1	0	1	0	1	0	0	0	3	0	3	1	5	3	3	1	5	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr7:149517991G>A	uc010lpk.3	+	86	12325	c.12325G>A	c.(12325-12327)Gtg>Atg	p.V4109M	SSPO_uc010lpm.1_5'Flank|SSPO_uc003wgg.2_5'Flank|SSPO_uc003wgh.2_5'Flank|SSPO_uc003wgi.1_5'Flank	NM_198455	NP_940857	A2VEC9	SSPO_HUMAN	Homo sapiens SCO-spondin homolog (Bos taurus) (SSPO), mRNA.	4112					cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGTGGCTGCGTGCCAATTGG	0.667													A	149517991	G	A	149517991	3	1	232	1	0	0	0	0	1	0	0	0	15285	1145	40	1	12674	1	SSPO	7	149517991	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2692113	149517991	9620672	54	16059											
DOCK5	80005	broad.mit.edu	37	chr8	25159899	25159899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgtgccagattgtccGcgtgggccatatggagctga	6	11	14	10	2	0	2	0	1	0	1	1	3	1	3	4	2	2	1	4	2	1	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25159899G>A	uc003xeg.3	+	9	1042	c.905G>A	c.(904-906)cGc>cAc	p.R302H	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.R16H|DOCK5_uc003xef.3_Missense_Mutation_p.R302H	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	302						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAGATTGTCCGCGTGGGCCAT	0.572													A	25159899	G	A	25159899	3	1	232	1	0	0	0	0	1	0	0	0	4729	1087	38	1	943	1	DOCK5	8	25159899	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		25159899	121204123	55	16060											
DOCK5	80005	broad.mit.edu	37	chr8	25189802	25189802	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaattggcgttccaacTcccagaacattaaacacaac	15	10	5	11	1	0	1	0	0	0	1	2	1	2	1	2	1	4	2	2	1	7	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25189802T>A	uc003xeg.3	+	18	2076	c.1939T>A	c.(1939-1941)Tcc>Acc	p.S647T	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.S361T|DOCK5_uc003xei.3_Missense_Mutation_p.S217T|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	647	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GCGTTCCAACTCCCAGAACAT	0.378													A	25189802	T	A	25189802	3	1	232	1	0	0	0	0	1	0	0	0	4729	1551	54	5	2013	5	DOCK5	8	25189802	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	29903	25189802	121174220	56	16061											
DOCK5	80005	broad.mit.edu	37	chr8	25265580	25265580	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccttagagaggagaacagCgagaaccggatcagcaagtt	14	6	12	9	2	1	3	1	0	0	3	2	7	2	4	2	2	4	2	2	2	4	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:25265580C>T	uc003xeg.3	+	48	5312	c.5175C>T	c.(5173-5175)agC>agT	p.S1725S	DOCK5_uc003xek.3_Intron|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1725						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGGAGAACAGCGAGAACCGGA	0.498													T	25265580	C	T	25265580	2	4	232	1	0	0	0	0	0	0	0	1	4729	767	27	1		1	DOCK5	8	25265580	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	75778	25265580	121098442	57	16062											
PTK2B	2185	broad.mit.edu	37	chr8	27308400	27308400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagtggctcaggcaggaGgagaagtccctggtgagcac	10	6	15	10	0	1	2	1	1	0	1	2	4	2	3	2	5	2	3	2	5	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:27308400G>A	uc003xfn.2	+	29	3283	c.2475G>A	c.(2473-2475)gaG>gaA	p.E825E	PTK2B_uc022ate.1_Silent_p.E825E|PTK2B_uc003xfp.2_Silent_p.E825E|PTK2B_uc003xfq.2_Silent_p.E783E|PTK2B_uc003xfs.1_Silent_p.E22E	NM_173174	NP_775268	Q14289	FAK2_HUMAN	Homo sapiens PTK2B protein tyrosine kinase 2 beta (PTK2B), transcript variant 1, mRNA.	825	Interaction with TGFB1I1 (By similarity).				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TCAGGCAGGAGGAGAAGTCCC	0.607													A	27308400	G	A	27308400	2	1	232	1	0	0	0	0	0	0	0	1	12849	991	35	2		2	PTK2B	8	27308400	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	2042820	27308400	119055622	58	16063											
ADAM32	203102	broad.mit.edu	37	chr8	39111964	39111964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaaacaagtgccattgttCgccaggctataagcctccaa	13	8	8	12	1	0	1	0	0	0	1	2	1	1	1	4	1	3	2	4	1	5	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:39111964C>T	uc003xmt.4	+	17	2179	c.1934C>T	c.(1933-1935)tCg>tTg	p.S645L	ADAM32_uc011lch.2_Missense_Mutation_p.S546L|ADAM32_uc003xmu.4_Missense_Mutation_p.S539L|ADAM32_uc003xmv.3_Missense_Mutation_p.S69L	NM_145004	NP_659441	Q8TC27	ADA32_HUMAN	Homo sapiens ADAM metallopeptidase domain 32 (ADAM32), mRNA.	645	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TGCCATTGTTCGCCAGGCTAT	0.363													T	39111964	C	T	39111964	3	4	232	1	0	0	0	0	1	0	0	0	249	893	31	1	2004	1	ADAM32	8	39111964	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	11803564	39111964	107252058	59	16064											
JPH1	56704	broad.mit.edu	37	chr8	75227467	75227467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacatcgccaaagctgatCgtggagttggcatcgctgga	9	10	12	10	3	1	1	0	1	1	0	4	3	1	3	1	3	2	4	1	3	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr8:75227467C>T	uc003yae.3	-	1	808	c.768G>A	c.(766-768)acG>acA	p.T256T	JPH1_uc003yaf.3_Silent_p.T256T|JPH1_uc003yag.1_Silent_p.T120T	NM_020647	NP_065698	Q9HDC5	JPH1_HUMAN	Homo sapiens junctophilin 1 (JPH1), mRNA.	256	Ser-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CAAAGCTGATCGTGGAGTTGG	0.557													T	75227467	C	T	75227467	2	4	232	1	0	0	0	0	0	0	0	1	8018	871	31	1		1	JPH1	8	75227467	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	36115503	75227467	71136555	60	16065											
CNTNAP3	79937	broad.mit.edu	37	chr9	39176040	39176040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacccatgaaagcttttaCgtctgaatgcccgcgatctt	11	11	7	12	3	2	2	0	2	2	0	2	3	2	2	2	0	4	1	2	0	4	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:39176040C>T	uc004abi.3	-	6	1216	c.977G>A	c.(976-978)cGt>cAt	p.R326H	CNTNAP3_uc004abj.3_Missense_Mutation_p.R326H|CNTNAP3_uc011lqr.2_Non-coding_Transcript|CNTNAP3_uc004abk.1_Missense_Mutation_p.R326H|CNTNAP3_uc011lqs.1_Missense_Mutation_p.R326H	NM_033655	NP_387504	Q9BZ76	CNTP3_HUMAN	Homo sapiens contactin associated protein-like 3 (CNTNAP3), mRNA.	326	Laminin G-like 1.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AAAGCTTTTACGTCTGAATGC	0.388													T	39176040	C	T	39176040	3	4	232	1	0	0	0	0	1	0	0	0	3679	536	19	1	2961	1	CNTNAP3	9	39176040	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		39176040	102037391	61	16066											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177155	70177155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggtgccccggcatagaCgggggccgagagcagtaggt	7	6	17	11	4	0	2	0	0	0	2	1	3	0	2	3	5	2	3	3	5	2	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:70177155C>T	uc010moc.3	-	0	1661	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	277					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|lung(2)	7						CCGGCATAGACGGGGGCCGAG	0.687													T	70177155	C	T	70177155	3	4	232	1	0	0	0	0	1	0	0	0	6053	536	19	1	425	1	FOXD4L5	9	70177155	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	31001115	70177155	71036276	62	16067											
PAPPA	5069	broad.mit.edu	37	chr9	118949533	118949533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagacccacgctactttttCtccttgaagacagaccgagc	12	9	7	13	2	1	4	0	1	1	3	2	5	1	4	3	0	2	1	3	0	3	4	rs141909455		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:118949533C>G	uc004bjn.3	+	1	897	c.516C>G	c.(514-516)ttC>ttG	p.F172L	PAPPA_uc011lxp.1_5'UTR|PAPPA_uc011lxq.2_5'UTR	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	172					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GCTACTTTTTCTCCTTGAAGA	0.537													G	118949533	C	G	118949533	3	3	232	1	0	0	0	0	1	0	0	0	11508	912	32	4	522	4	PAPPA	9	118949533	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	48772378	118949533	22263898	63	16068											
NUP214	8021	broad.mit.edu	37	chr9	134016058	134016058	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcatcaaaacaccagagCgactttcattagaaggagag	15	8	8	10	1	3	3	3	0	1	3	4	5	3	3	1	1	2	0	1	1	4	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr9:134016058C>T	uc004cag.3	+	10	1366	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*	NUP214_uc004cah.3_Nonsense_Mutation_p.R419*|NUP214_uc004caf.1_Nonsense_Mutation_p.R419*	NM_005085	NP_005076	P35658	NU214_HUMAN	Homo sapiens nucleoporin 214kDa (NUP214), mRNA.	419					carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AACACCAGAGCGACTTTCATT	0.433			T	"DEK, SET, ABL1"	"AML, T-ALL"								T	134016058	C	T	134016058	4	4	232	1	0	0	0	0	0	1	0	0	10838	760	27	1	1297	1	NUP214	9	134016058	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	15066525	134016058	7197373	64	16069											
ANO9	338440	broad.mit.edu	37	chr11	433453	433453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctgtttctggtcccGgatcacctgggggcacatgg	7	9	14	11	1	2	1	1	0	1	1	3	3	3	2	3	5	0	2	3	5	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:433453G>A	uc001lpi.2	-	3	296	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	ANO9_uc010qvv.1_5'UTR	NM_001012302	NP_001012302	A1A5B4	ANO9_HUMAN	Homo sapiens anoctamin 9 (ANO9), mRNA.	71						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TTCTGGTCCCGGATCACCTGG	0.612													A	433453	G	A	433453	3	1	232	1	0	0	0	0	1	0	0	0	704	1115	39	1	2217	1	ANO9	11	433453	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		433453	134573063	65	16070											
TTC17	55761	broad.mit.edu	37	chr11	43464880	43464880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccttgaatttcaggtacgGtggttgaggagagcaatggt	9	11	15	6	1	1	3	1	2	0	1	1	4	1	3	1	5	2	3	1	5	3	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:43464880G>A	uc001mxi.3	+	16	2327	c.2257G>A	c.(2257-2259)Gtg>Atg	p.V753M	TTC17_uc001mxh.3_Missense_Mutation_p.V810M|TTC17_uc010rfj.2_Missense_Mutation_p.V753M|TTC17_uc001mxj.3_Missense_Mutation_p.V580M	NM_018259	NP_060729	Q96AE7	TTC17_HUMAN	Homo sapiens tetratricopeptide repeat domain 17 (TTC17), mRNA.	753							binding	p.T752T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTCAGGTACGGTGGTTGAGGA	0.443													A	43464880	G	A	43464880	3	1	232	1	0	0	0	0	1	0	0	0	16786	1261	44	2	2323	2	TTC17	11	43464880	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	43031427	43464880	91541636	66	16071											
OR4X1	390113	broad.mit.edu	37	chr11	48285739	48285739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttctttggtggcactgaGgcctttctcctgatggtgat	5	16	11	9	0	2	3	0	3	2	0	3	3	2	3	2	4	0	1	2	4	0	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:48285739G>A	uc010rht.2	+	0	327	c.327G>A	c.(325-327)gaG>gaA	p.E109E		NM_001004726	NP_001004726	Q8NH49	OR4X1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily X, member 1 (OR4X1), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTGGCACTGAGGCCTTTCTCC	0.507													A	48285739	G	A	48285739	2	1	232	1	0	0	0	0	0	0	0	1	11160	991	35	2		2	OR4X1	11	48285739	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	4820859	48285739	86720777	67	16072											
ACY3	91703	broad.mit.edu	37	chr11	67413173	67413173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggccacctgcagatggCggcacaggtgcatggcaaag	9	4	16	12	2	0	1	0	0	0	1	0	1	0	1	3	6	2	4	3	6	1	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:67413173C>T	uc001omq.3	-	3	593	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_080658	NP_542389	Q96HD9	ACY3_HUMAN	Homo sapiens aspartoacylase (aminocyclase) 3 (ACY3), mRNA.	141					interspecies interaction between organisms	apical plasma membrane|cytoplasm	hydrolase activity, acting on ester bonds|metal ion binding			endometrium(1)|lung(5)|prostate(2)	8					L-Aspartic Acid(DB00128)	CTGCAGATGGCGGCACAGGTG	0.617													T	67413173	C	T	67413173	3	4	232	1	0	0	0	0	1	0	0	0	227	768	27	1	557	1	ACY3	11	67413173	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	19127434	67413173	67593343	68	16073											
RELT	84957	broad.mit.edu	37	chr11	73102204	73102204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcaggtggtttgggccttgGggggttccccgcgttccatg	2	11	17	11	3	0	0	0	0	0	0	2	0	2	0	4	6	0	4	4	6	0	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:73102204G>C	uc001otv.3	+	4	468	c.303G>C	c.(301-303)tgG>tgC	p.W101C	RELT_uc001otw.3_Missense_Mutation_p.W101C|RELT_uc009yto.1_Missense_Mutation_p.W19C|RELT_uc001otx.3_5'Flank	NM_152222	NP_689408	Q969Z4	TR19L_HUMAN	Homo sapiens RELT tumor necrosis factor receptor (RELT), transcript variant 2, mRNA.	101						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						TTGGGCCTTGGGGGGTTCCCC	0.587													C	73102204	G	C	73102204	3	2	232	1	0	0	0	0	1	0	0	0	13309	1241	43	4	317	4	RELT	11	73102204	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5689031	73102204	61904312	69	16074											
OR6M1	390261	broad.mit.edu	37	chr11	123676770	123676770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtagaaatatgtttggatCatgcaaccagcaaaagatat	18	10	8	5	0	1	2	1	0	0	2	1	3	1	3	1	1	3	4	1	1	8	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr11:123676770C>T	uc010rzz.2	-	0	288	c.288G>A	c.(286-288)atG>atA	p.M96I		NM_001005325	NP_001005325	Q8NGM8	OR6M1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily M, member 1 (OR6M1), mRNA.	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		ATGTTTGGATCATGCAACCAG	0.458													T	123676770	C	T	123676770	3	4	232	1	0	0	0	0	1	0	0	0	11281	826	29	2	656	2	OR6M1	11	123676770	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	50574566	123676770	11329746	70	16075											
CNTN1	1272	broad.mit.edu	37	chr12	41333137	41333137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatttgttttctttttagCgttggctccaacttttgaaa	9	19	6	7	1	1	1	0	1	1	0	2	1	2	1	1	1	2	3	1	1	4	9			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:41333137C>T	uc001rmm.1	+	12	1342	c.1229_splice	c.e12-1	p.A410_splice	CNTN1_uc009zjy.2_Splice_Site_p.A410_splice|CNTN1_uc001rmn.1_Splice_Site_p.A399_splice|CNTN1_uc001rmo.3_Splice_Site_p.A410_splice	NM_001843	NP_001834	Q12860	CNTN1_HUMAN	Homo sapiens contactin 1 (CNTN1), transcript variant 1, mRNA.	410					axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				TTCTTTTTAGCGTTGGCTCCA	0.348													T	41333137	C	T	41333137	3	4	232	1	0	0	0	0	1	0	0	0	3671	782	27	1	1271	1	CNTN1	12	41333137	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		41333137	92518758	71	16076											
TRHDE	29953	broad.mit.edu	37	chr12	72771778	72771778	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatatatttttaattaggtaCgattatatgcaagacctgat	14	17	6	4	1	0	2	0	1	0	1	0	3	0	2	1	1	2	2	1	1	9	10			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:72771778C>T	uc001sxa.3	+	2	1087	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*		NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	353					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.R353*(2)|p.R353Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						taattaGGTACGATTATATGC	0.308													T	72771778	C	T	72771778	4	4	232	1	0	0	0	0	0	1	0	0	16580	528	19	1	1067	1	TRHDE	12	72771778	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	31438641	72771778	61080117	72	16077											
TBX5	6910	broad.mit.edu	37	chr12	114793581	114793581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggccatgccagccagcCgagggaccaggggccccgag	7	3	17	14	2	0	0	0	0	0	0	0	3	0	1	7	5	3	1	7	5	0	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr12:114793581C>T	uc001tvo.3	-	8	1808	c.1313G>A	c.(1312-1314)cGg>cAg	p.R438Q	TBX5_uc001tvp.3_Missense_Mutation_p.R438Q|TBX5_uc001tvq.3_Missense_Mutation_p.R388Q	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	438				MDRLPYQHFSAHFTSGPLVPRLAGMANHGSPQLGEGMFQHQ TS -> WTGYPTSTSPLTSPRGPWSLGWLAWQPWLPTAGRG NVPSTRPP (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GCCAGCCAGCCGAGGGACCAG	0.657													T	114793581	C	T	114793581	3	4	232	1	0	0	0	0	1	0	0	0	15761	652	23	1	247	1	TBX5	12	114793581	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	42021803	114793581	19058314	73	16078											
FAM48A	55578	broad.mit.edu	37	chr13	37583874	37583876	+	In_Frame_Del	DEL	GAT	GAT	-																															tgactggctgcctgtatgccGatgatgatgtagctgagctg																								rs149036783		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:37583874_37583876delGAT	uc001uwk.3	-	24	2654_2656	c.2406_2408delATC	c.(2404-2409)tcatcg>tcg	p.802_803SS>S	FAM48A_uc010abt.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwg.3_In_Frame_Del_p.H758del|FAM48A_uc001uwh.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwi.3_In_Frame_Del_p.723_724SS>S|FAM48A_uc001uwj.3_In_Frame_Del_p.724_725SS>S|FAM48A_uc001uwd.3_In_Frame_Del_p.210_211SS>S|FAM48A_uc001uwe.3_In_Frame_Del_p.H242del|FAM48A_uc001uwf.3_In_Frame_Del_p.H324del	NM_017569	NP_060039	Q8NEM7	FA48A_HUMAN	Homo sapiens family with sequence similarity 48, member A (FAM48A), transcript variant 2, mRNA.	723					autophagy|gastrulation	SAGA-type complex	protein binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19		Lung NSC(96;2.09e-06)|Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.0959)		all cancers(112;6.06e-07)|Epithelial(112;1.87e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00794)|BRCA - Breast invasive adenocarcinoma(63;0.0128)|GBM - Glioblastoma multiforme(144;0.0477)		CCTGTATGCCGATGATGATGTAG	0.424													-	37583876	GAT	-	37583874	7	5	232	1	0	1	0	1	0	0	0	0	5623	1059	37	0	68	0	FAM48A	13	37583874	In_Frame_Del	DEL	GAT	TCGA-32-2632-01A-01D-1495-08		37583874	77586004	74	16079											
RB1	5925	broad.mit.edu	37	chr13	48941711	48941711	+	Frame_Shift_Del	DEL	A	A	-																															gattatttttggatcatgatAaaactcttcagactgattct																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:48941711delA	uc001vcb.3	+	9	1187	c.1021delA	c.(1021-1023)aaafs	p.K341fs	RB1_uc010act.1_Frame_Shift_Del_p.K42fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	341					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)|p.D340fs*5(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGATCATGATAAAACTCTTCA	0.279		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48941711	A	-	48941711	7	5	232	1	0	1	0	1	0	0	0	0	13186	363	13	0	1059	0	RB1	13	48941711	Frame_Shift_Del	DEL	A	TCGA-32-2632-01A-01D-1495-08	11357837	48941711	66228167	75	16080											
CLYBL	171425	broad.mit.edu	37	chr13	100425234	100425234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagattgtgcagtgctcgaCtgtgaggatggagtggctgc	7	11	17	6	1	0	2	0	1	0	1	1	5	0	4	0	3	3	4	0	3	1	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:100425234C>G	uc001vok.3	+	1	250	c.219C>G	c.(217-219)gaC>gaG	p.D73E	CLYBL_uc010tix.2_Missense_Mutation_p.D73E|CLYBL_uc010tiy.2_Missense_Mutation_p.D73E	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	73					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGTGCTCGACTGTGAGGATG	0.398													G	100425234	C	G	100425234	3	3	232	1	0	0	0	0	1	0	0	0	3604	564	20	4	225	4	CLYBL	13	100425234	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	51483523	100425234	14744644	76	16081											
ATP11A	23250	broad.mit.edu	37	chr13	113485796	113485796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccccacgtcatctgcaaCgggcaggtcctcccagagtc	7	7	11	16	2	2	1	1	0	1	1	5	1	4	1	4	2	3	2	4	2	1	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr13:113485796C>T	uc001vsj.4	+	12	1417	c.1329C>T	c.(1327-1329)aaC>aaT	p.N443N	ATP11A_uc001vsi.4_Silent_p.N443N|ATP11A_uc001vsm.1_Silent_p.N319N	NM_032189	NP_115565	P98196	AT11A_HUMAN	Homo sapiens ATPase, class VI, type 11A (ATP11A), transcript variant 2, mRNA.	443					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				TCATCTGCAACGGGCAGGTCC	0.587													T	113485796	C	T	113485796	2	4	232	1	0	0	0	0	0	0	0	1	1124	535	19	1		1	ATP11A	13	113485796	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	13060562	113485796	1684082	77	16082											
MYH7	4625	broad.mit.edu	37	chr14	23883029	23883029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggactcggcgatgtccGcccgctcctctgcctcatcc	3	9	10	19	4	2	0	1	0	1	0	6	2	5	1	6	2	1	1	6	2	0	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23883029G>A	uc001wjx.3	-	38	5835	c.5729C>T	c.(5728-5730)gCg>gTg	p.A1910V		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	1910					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GGCGATGTCCGCCCGCTCCTC	0.622													A	23883029	G	A	23883029	3	1	232	1	0	0	0	0	1	0	0	0	10115	1087	38	1	86	1	MYH7	14	23883029	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		23883029	83466511	78	16083											
MYH7	4625	broad.mit.edu	37	chr14	23902877	23902877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgcgcttctagccgcTccttctctgacttgcgcagg	3	13	11	14	3	3	1	0	1	3	0	5	1	4	1	2	2	3	3	2	2	1	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:23902877T>C	uc001wjx.3	-	2	171	c.65A>G	c.(64-66)gAg>gGg	p.E22G		NM_000257	NP_000248	P12883	MYH7_HUMAN	Homo sapiens myosin, heavy chain 7, cardiac muscle, beta (MYH7), mRNA.	22	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCTAGCCGCTCCTTCTCTGA	0.577													C	23902877	T	C	23902877	3	2	232	1	0	0	0	0	1	0	0	0	10115	1551	54	3	5894	3	MYH7	14	23902877	Missense_Mutation	SNP	T	TCGA-32-2632-01A-01D-1495-08	19848	23902877	83446663	79	16084											
LTBP2	4053	broad.mit.edu	37	chr14	74992813	74992813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatgagtgacactggtcGtgacctgcacagaaacagga	12	7	13	9	1	0	4	0	3	0	1	1	5	0	5	1	2	3	2	1	2	1	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:74992813G>A	uc001xqa.3	-	13	2780	c.2393C>T	c.(2392-2394)aCg>aTg	p.T798M		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	798					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GACACTGGTCGTGACCTGCAC	0.577													A	74992813	G	A	74992813	3	1	232	1	0	0	0	0	1	0	0	0	9144	1145	40	1	3164	1	LTBP2	14	74992813	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	51089936	74992813	32356727	80	16085											
NRXN3	9369	broad.mit.edu	37	chr14	79181464	79181464	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcaccggcaccggatactggGgaagaacctgcgaaaggggt	11	4	16	10	3	0	1	0	0	0	1	0	4	0	3	3	6	3	2	3	6	4	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:79181464G>C	uc001xun.3	+	4	1398	c.907G>C	c.(907-909)Gga>Cga	p.G303R	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.G437R	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGGATACTGGGGAAGAACCTG	0.587													C	79181464	G	C	79181464	3	2	232	1	0	0	0	0	1	0	0	0	10743	1233	43	4	917	4	NRXN3	14	79181464	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	4188651	79181464	28168076	81	16086											
TDRD9	122402	broad.mit.edu	37	chr14	104481128	104481128	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcatgttgattctcggCgacctgtcatggaccaagag	10	10	11	10	2	2	2	1	1	1	1	3	4	2	3	2	2	1	2	2	2	1	2	rs143367834		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr14:104481128C>T	uc001yom.4	+	20	2203	c.2173C>T	c.(2173-2175)Cga>Tga	p.R725*	TDRD9_uc001yon.4_Nonsense_Mutation_p.R463*	NM_153046	NP_694591	Q8NDG6	TDRD9_HUMAN	Homo sapiens tudor domain containing 9 (TDRD9), mRNA.	725					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGATTCTCGGCGACCTGTCAT	0.368													T	104481128	C	T	104481128	4	4	232	1	0	0	0	0	0	1	0	0	15836	760	27	1	2255	1	TDRD9	14	104481128	Nonsense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	25299664	104481128	2868412	82	16087											
NDN	4692	broad.mit.edu	37	chr15	23931758	23931758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctctctctggcgccgcGgcccttcacgtagatgaggc	4	8	14	15	5	3	2	1	1	2	1	4	2	3	2	2	4	0	2	2	4	1	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:23931758G>A	uc001ywk.3	-	0	693	c.607C>T	c.(607-609)Cgc>Tgc	p.R203C		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	203	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CTGGCGCCGCGGCCCTTCACG	0.662									Prader-Willi syndrome				A	23931758	G	A	23931758	3	1	232	1	0	0	0	0	1	0	0	0	10323	1116	39	1	362	1	NDN	15	23931758	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		23931758	78599634	83	16088											
CSPG4	1464	broad.mit.edu	37	chr15	75980642	75980642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagactcttgacaaagaGgtggtcagcagagaggacac	13	7	14	7	0	2	4	1	2	1	3	2	7	2	5	0	3	1	2	0	3	1	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:75980642G>T	uc002baw.3	-	2	2857	c.2764C>A	c.(2764-2766)Ctc>Atc	p.L922I		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	922	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TTGACAAAGAGGTGGTCAGCA	0.597													T	75980642	G	T	75980642	3	4	232	1	0	0	0	0	1	0	0	0	3993	1000	35	4	4236	4	CSPG4	15	75980642	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	52048884	75980642	26550750	84	16089											
SYNM	23336	broad.mit.edu	37	chr15	99669677	99669677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggcaagtttcaatcacaGctcggcactgtattctaacc	10	13	7	11	1	3	0	2	0	1	0	4	0	3	0	1	2	2	5	1	2	4	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr15:99669677G>A	uc002bup.3	+	4	1229	c.1109G>A	c.(1108-1110)aGc>aAc	p.S370N	SYNM_uc002buo.3_Missense_Mutation_p.S370N|SYNM_uc002buq.3_Intron	NM_145728	NP_663780	O15061	SYNEM_HUMAN	Homo sapiens synemin, intermediate filament protein (SYNM), transcript variant A, mRNA.	371	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						TTCAATCACAGCTCGGCACTG	0.463													A	99669677	G	A	99669677	3	1	232	1	0	0	0	0	1	0	0	0	15552	971	34	2	1125	2	SYNM	15	99669677	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	23689035	99669677	2861715	85	16090											
GRIN2A	2903	broad.mit.edu	37	chr16	9943739	9943739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagatggttgtcatccGgctcacagtcggagaaggac	9	9	14	9	2	2	2	2	1	0	2	4	5	3	3	1	4	1	3	1	4	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:9943739G>A	uc010uym.2	-	5	1512	c.1202C>T	c.(1201-1203)cCg>cTg	p.P401L	GRIN2A_uc002czo.4_Missense_Mutation_p.P401L|GRIN2A_uc010uyn.2_Missense_Mutation_p.P244L|GRIN2A_uc002czr.4_Missense_Mutation_p.P401L	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	401					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.P401Q(2)|p.P401P(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTGTCATCCGGCTCACAGTC	0.587													A	9943739	G	A	9943739	3	1	232	1	0	0	0	0	1	0	0	0	6834	1116	39	1	3228	1	GRIN2A	16	9943739	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		9943739	80411014	86	16091											
HYDIN	54768	broad.mit.edu	37	chr16	70866858	70866858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaaggctctcctttcccaCctcggtgggatggtaggtca	8	10	11	12	1	2	0	1	0	1	0	5	1	3	1	3	5	0	2	3	5	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:70866858C>T	uc002ezr.3	-	79	13940	c.13789G>A	c.(13789-13791)Gtg>Atg	p.V4597M	HYDIN_uc010cfy.3_Non-coding_Transcript	NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	4598										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TCCTTTCCCACCTCGGTGGGA	0.493													T	70866858	C	T	70866858	3	4	232	1	0	0	0	0	1	0	0	0	7525	507	18	2	1601	2	HYDIN	16	70866858	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	60923119	70866858	19487895	87	16092											
PRDM7	11105	broad.mit.edu	37	chr16	90128375	90128375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcttcgtcttctgtaattCggccctcataggggccaaag	7	12	9	13	2	4	0	1	0	3	0	6	0	4	0	3	3	0	1	3	3	3	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr16:90128375C>T	uc010cje.3	-	6	856	c.836G>A	c.(835-837)cGa>cAa	p.R279Q	PRDM7_uc002fqo.3_Missense_Mutation_p.R73Q|PRDM7_uc010cjf.3_Missense_Mutation_p.R162Q|PRDM7_uc010cjg.1_Missense_Mutation_p.R73Q|PRDM7_uc010cjh.1_Non-coding_Transcript	NM_001098173	NP_001091643	Q9NQW5	PRDM7_HUMAN	Homo sapiens PR domain containing 7 (PRDM7), transcript variant 1, mRNA.	279	SET.					chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCTGTAATTCGGCCCTCATA	0.547													T	90128375	C	T	90128375	3	4	232	1	0	0	0	0	1	0	0	0	12547	884	31	1	658	1	PRDM7	16	90128375	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	19261517	90128375	226378	88	16093											
MYOCD	93649	broad.mit.edu	37	chr17	12626268	12626268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctacgaccagggccactgGagctggtggaaaaaaacatt	13	7	11	10	1	1	0	0	0	1	0	1	3	1	2	2	4	3	1	2	4	4	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:12626268G>A	uc002gno.2	+	4	657	c.358G>A	c.(358-360)Gag>Aag	p.E120K	MYOCD_uc002gnn.2_Missense_Mutation_p.E120K|MYOCD_uc002gnp.1_Missense_Mutation_p.E24K	NM_001146312	NP_001139784	Q8IZQ8	MYCD_HUMAN	Homo sapiens myocardin (MYOCD), transcript variant 1, mRNA.	120					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGGCCACTGGAGCTGGTGGA	0.468													A	12626268	G	A	12626268	3	1	232	1	0	0	0	0	1	0	0	0	10163	1175	41	2	376	2	MYOCD	17	12626268	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		12626268	68568942	89	16094											
CCL14	6358	broad.mit.edu	37	chr17	34311432	34311432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccataatccgctgacGcgggatcttgtaggtagtgt	9	12	12	8	3	1	1	0	1	1	0	3	2	3	2	2	2	0	4	2	2	4	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:34311432G>A	uc010wcr.1	-	1	215	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C	CCL16_uc002hkl.3_5'Flank|CCL16_uc002hkm.3_5'Flank|CCL14_uc010wcq.1_Missense_Mutation_p.R62C|CCL14_uc002hkn.2_Non-coding_Transcript|CCL15_uc010wcs.2_Non-coding_Transcript|CCL15_uc010wct.2_Non-coding_Transcript|BC070118_uc002hkq.3_5'Flank	NM_032963	NP_116739	Q16627	CCL14_HUMAN	Homo sapiens chemokine (C-C motif) ligand 14 (CCL14), transcript variant 3, mRNA.	46					cellular calcium ion homeostasis|immune response|positive regulation of cell proliferation	extracellular space	chemokine activity|signal transducer activity	p.P45R(1)		large_intestine(1)|lung(6)	7		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATCCGCTGACGCGGGATCTTG	0.552													A	34311432	G	A	34311432	3	1	232	1	0	0	0	0	1	0	0	0	2913	1087	38	1	153	1	CCL14	17	34311432	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	21685164	34311432	46883778	90	16095											
KRT38	8687	broad.mit.edu	37	chr17	39597030	39597030	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcggttggcatgtgccacGttggccaaaaggcacatggg	9	8	14	10	2	0	0	0	0	0	0	1	0	0	0	2	5	1	4	2	5	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:39597030G>A	uc002hwq.1	-	0	567	c.144C>T	c.(142-144)aaC>aaT	p.N48N		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	48	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				CATGTGCCACGTTGGCCAAAA	0.632													A	39597030	G	A	39597030	2	1	232	1	0	0	0	0	0	0	0	1	8533	1136	40	1		1	KRT38	17	39597030	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	5285598	39597030	41598180	91	16096											
ABCA9	10350	broad.mit.edu	37	chr17	67041451	67041451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattcatccatgcttttttCatcaggccaccccatgattg	9	14	5	13	0	3	1	3	1	0	0	4	1	4	1	4	1	1	1	4	1	1	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr17:67041451C>T	uc002jhu.3	-	3	474	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	ABCA9_uc010dez.3_Missense_Mutation_p.E111K|ABCA9_uc002jhv.3_Missense_Mutation_p.E111K	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	111					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGCTTTTTTCATCAGGCCAC	0.383													T	67041451	C	T	67041451	3	4	232	1	0	0	0	0	1	0	0	0	39	835	29	2	4687	2	ABCA9	17	67041451	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	27444421	67041451	14153759	92	16097											
CABYR	26256	broad.mit.edu	37	chr18	21735681	21735681	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtagagaaatggtcagaAggaacgacaccacagaagaa	19	4	11	7	1	2	4	2	0	0	4	2	7	2	5	1	2	1	1	1	2	6	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:21735681A>T	uc002kux.3	+	3	368	c.216A>T	c.(214-216)gaA>gaT	p.E72D	CABYR_uc021uig.1_Missense_Mutation_p.E54D|CABYR_uc010xbb.1_5'UTR|CABYR_uc002kuy.3_Missense_Mutation_p.E72D|CABYR_uc002kuz.3_Missense_Mutation_p.E72D|CABYR_uc002kva.3_Missense_Mutation_p.E54D|CABYR_uc002kvb.3_5'UTR|CABYR_uc002kvc.3_Missense_Mutation_p.E72D|CABYR_uc010dlw.3_Non-coding_Transcript	NM_012189	NP_036321	O75952	CABYR_HUMAN	Homo sapiens calcium binding tyrosine-(Y)-phosphorylation regulated (CABYR), transcript variant 1, mRNA.	72					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					AATGGTCAGAAGGAACGACAC	0.328													T	21735681	A	T	21735681	3	4	232	1	0	0	0	0	1	0	0	0	2562	69	3	5	226	5	CABYR	18	21735681	Missense_Mutation	SNP	A	TCGA-32-2632-01A-01D-1495-08		21735681	56341567	93	16098											
MEP1B	4225	broad.mit.edu	37	chr18	29784271	29784271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctggcatgagcagtcGcgttctgaccgggatgacta	8	10	14	9	3	2	3	0	3	2	0	3	5	2	5	1	3	1	3	1	3	1	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:29784271G>A	uc002kxj.4	+	6	542	c.495G>A	c.(493-495)tcG>tcA	p.S165S		NM_005925	NP_005916	Q16820	MEP1B_HUMAN	Homo sapiens meprin A, beta (MEP1B), mRNA.	165	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATGAGCAGTCGCGTTCTGACC	0.458													A	29784271	G	A	29784271	2	1	232	1	0	0	0	0	0	0	0	1	9551	1074	38	1		1	MEP1B	18	29784271	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	8048590	29784271	48292977	94	16099											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60017106	60017106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtctgccctgtggcccGgatgaatacttggatagctg	7	12	13	9	1	1	1	0	1	1	0	1	3	1	3	2	3	3	2	2	3	4	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr18:60017106G>A	uc002lin.3	+	2	257	c.219G>A	c.(217-219)ccG>ccA	p.P73P	TNFRSF11A_uc010dpv.3_Silent_p.P73P	NM_003839	NP_003830	Q9Y6Q6	TNR11_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 11a, NFKB activator (TNFRSF11A), mRNA.	73					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity	p.P73P(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				CCTGTGGCCCGGATGAATACT	0.423													A	60017106	G	A	60017106	2	1	232	1	0	0	0	0	0	0	0	1	16384	1103	39	1		1	TNFRSF11A	18	60017106	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	30232835	60017106	18060142	95	16100											
HMHA1	23526	broad.mit.edu	37	chr19	1080969	1080969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaggggctgtccaaggCggcccgtactcaccggctcc	6	5	13	17	4	1	0	1	0	0	0	3	1	3	0	5	5	1	3	5	5	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:1080969C>T	uc002lqz.1	+	16	2327	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	HMHA1_uc010xgd.1_Missense_Mutation_p.A715V|HMHA1_uc010xge.1_Missense_Mutation_p.A567V|HMHA1_uc002lra.1_Missense_Mutation_p.A539V|HMHA1_uc002lrb.1_Missense_Mutation_p.A582V|HMHA1_uc002lrc.1_Missense_Mutation_p.A334V	NM_012292	NP_036424	Q92619	HMHA1_HUMAN	Homo sapiens histocompatibility (minor) HA-1 (HMHA1), mRNA.	699					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTGTCCAAGGCGGCCCGTACT	0.682													T	1080969	C	T	1080969	3	4	232	1	0	0	0	0	1	0	0	0	7295	768	27	1	2162	1	HMHA1	19	1080969	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08		1080969	58048014	96	16101											
RDH8	50700	broad.mit.edu	37	chr19	10131987	10131987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaggggaagcttctggCgcaggtttctatggctgagt	6	13	16	6	1	2	2	0	2	2	0	2	3	2	3	0	5	1	5	0	5	2	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:10131987C>T	uc002mmr.3	+	4	842	c.593C>T	c.(592-594)gCg>gTg	p.A198V		NM_015725	NP_056540	Q9NYR8	RDH8_HUMAN	Homo sapiens retinol dehydrogenase 8 (all-trans) (RDH8), mRNA.	198					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AAGCTTCTGGCGCAGGTTTCT	0.602													T	10131987	C	T	10131987	3	4	232	1	0	0	0	0	1	0	0	0	13284	768	27	1	611	1	RDH8	19	10131987	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9051018	10131987	48996996	97	16102											
CYP4F22	126410	broad.mit.edu	37	chr19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggcggcgggcactgcGtcagcagggggccgaggcct	6	3	20	12	5	1	0	1	0	0	0	1	2	1	1	2	7	3	2	2	7	1	0	rs146265982		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:15651449G>A	uc002nbh.4	+	7	1027	c.860G>A	c.(859-861)cGt>cAt	p.R287H		NM_173483	NP_775754	Q6NT55	CP4FN_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 22 (CYP4F22), mRNA.	287						endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632													A	15651449	G	A	15651449	3	1	232	1	0	0	0	0	1	0	0	0	4222	1145	40	1	882	1	CYP4F22	19	15651449	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5519462	15651449	43477534	98	16103											
GTPBP3	84705	broad.mit.edu	37	chr19	17452117	17452117	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggaggcgctgaggaaGgagctagctgcagtgtgagc	8	7	17	9	1	0	2	0	2	0	0	1	5	1	5	1	4	4	4	1	4	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:17452117G>A	uc002ngg.4	+	6	1430	c.1335G>A	c.(1333-1335)aaG>aaA	p.K445K	GTPBP3_uc010xpo.2_Silent_p.K435K|GTPBP3_uc010eas.3_Silent_p.K413K|GTPBP3_uc002ngh.4_Silent_p.K392K	NM_133644	NP_598399	Q969Y2	GTPB3_HUMAN	Homo sapiens GTP binding protein 3 (mitochondrial) (GTPBP3), nuclear gene encoding mitochondrial protein, transcript variant IV, mRNA.	413					tRNA modification	mitochondrion	GTP binding|GTPase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						CGCTGAGGAAGGAGCTAGCTG	0.642													A	17452117	G	A	17452117	2	1	232	1	0	0	0	0	0	0	0	1	6936	991	35	2		2	GTPBP3	19	17452117	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08	1800668	17452117	41676866	99	16104											
PGPEP1	54858	broad.mit.edu	37	chr19	18468321	18468321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagtgctgcgtggaggaCgggcctgaaagcattgactc	8	8	14	11	2	0	2	0	2	0	0	2	4	1	4	2	3	3	2	2	3	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:18468321C>T	uc002nis.1	+	3	417	c.333C>T	c.(331-333)gaC>gaT	p.D111D	PGPEP1_uc002nir.1_Non-coding_Transcript|PGPEP1_uc002nit.1_Silent_p.D34D|PGPEP1_uc010xqg.1_Silent_p.D34D	NM_017712	NP_060182	Q9NXJ5	PGPI_HUMAN	Homo sapiens pyroglutamyl-peptidase I (PGPEP1), mRNA.	111							cysteine-type peptidase activity										GCGTGGAGGACGGGCCTGAAA	0.592													T	18468321	C	T	18468321	2	4	232	1	0	0	0	0	0	0	0	1	11880	535	19	1		1	PGPEP1	19	18468321	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	1016204	18468321	40660662	100	16105											
ZNF599	148103	broad.mit.edu	37	chr19	35250777	35250777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacattctttgcataaaaagGgtttttctcgagtgtgagtc	10	15	9	7	1	2	1	0	1	2	0	4	2	2	1	0	1	1	2	0	1	3	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:35250777G>T	uc010edn.1	-	3	1317	c.929C>A	c.(928-930)cCc>cAc	p.P310H	ZNF599_uc010edm.2_Missense_Mutation_p.P273H	NM_001007248	NP_001007249	Q96NL3	ZN599_HUMAN	Homo sapiens zinc finger protein 599 (ZNF599), mRNA.	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.K309N(1)		endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GCATAAAAAGGGTTTTTCTCG	0.418													T	35250777	G	T	35250777	3	4	232	1	0	0	0	0	1	0	0	0	18130	1232	43	4	841	4	ZNF599	19	35250777	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	16782456	35250777	23878206	101	16106											
CCDC8	83987	broad.mit.edu	37	chr19	46914658	46914658	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttgacctgtttccgggcCctggctcctggagctgttcc	2	13	12	14	1	1	1	0	1	1	0	4	2	4	2	5	3	1	4	5	3	0	3			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:46914658C>T	uc002pep.3	-	0	2262	c.1410G>A	c.(1408-1410)agG>agA	p.R470R		NM_032040	NP_114429	Q9H0W5	CCDC8_HUMAN	Homo sapiens coiled-coil domain containing 8 (CCDC8), mRNA.	470						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTTCCGGGCCCTGGCTCCTG	0.612													T	46914658	C	T	46914658	2	4	232	1	0	0	0	0	0	0	0	1	2881	622	22	2		2	CCDC8	19	46914658	Silent	SNP	C	TCGA-32-2632-01A-01D-1495-08	11663881	46914658	12214325	102	16107											
LILRB1	10859	broad.mit.edu	37	chr19	55147969	55147969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacacgatgaagaccccCaggcagtgacgtatgccgag	11	4	12	14	3	0	3	0	2	0	1	0	5	0	3	4	1	1	2	4	1	2	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55147969C>A	uc002qgj.3	+	14	2012	c.1672C>A	c.(1672-1674)Cag>Aag	p.Q558K	LILRB1_uc010erp.1_3'UTR|LILRB1_uc002qgl.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgk.3_Missense_Mutation_p.Q559K|LILRB1_uc002qgm.3_Missense_Mutation_p.Q560K|LILRB1_uc010erq.3_Missense_Mutation_p.Q542K|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	558					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGAAGACCCCCAGGCAGTGAC	0.572										HNSCC(37;0.09)			A	55147969	C	A	55147969	3	1	232	1	0	0	0	0	1	0	0	0	8850	595	21	4	1728	4	LILRB1	19	55147969	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	8233311	55147969	3981014	103	16108											
NLRP7	199713	broad.mit.edu	37	chr19	55451000	55451000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccggctgcagaggaaaCgcaggaacagccccgtgcgg	11	2	16	12	4	0	1	0	0	0	1	0	4	0	4	3	5	6	3	3	5	3	0			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr19:55451000C>T	uc002qih.4	-	3	1263	c.1187G>A	c.(1186-1188)cGt>cAt	p.R396H	NLRP7_uc010esk.3_Missense_Mutation_p.R396H|NLRP7_uc002qig.4_Missense_Mutation_p.R396H|NLRP7_uc002qii.4_Missense_Mutation_p.R396H|NLRP7_uc010esl.3_Missense_Mutation_p.R424H	NM_206828	NP_996611	Q8WX94	NALP7_HUMAN	Homo sapiens NLR family, pyrin domain containing 7 (NLRP7), transcript variant 2, mRNA.	396	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GCAGAGGAAACGCAGGAACAG	0.706													T	55451000	C	T	55451000	3	4	232	1	0	0	0	0	1	0	0	0	10558	536	19	1	1958	1	NLRP7	19	55451000	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	303031	55451000	3677983	104	16109											
PHF20	51230	broad.mit.edu	37	chr20	34526877	34526877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattaccctgccgtggagcaGaagctggtggtggagacgag	9	8	16	8	2	0	2	0	0	0	2	0	5	0	3	2	4	4	2	2	4	3	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:34526877G>A	uc002xek.1	+	15	2670	c.2559G>A	c.(2557-2559)caG>caA	p.Q853Q		NM_016436	NP_057520	Q9BVI0	PHF20_HUMAN	Homo sapiens PHD finger protein 20 (PHF20), mRNA.	853					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					CCGTGGAGCAGAAGCTGGTGG	0.647													A	34526877	G	A	34526877	2	1	232	1	0	0	0	0	0	0	0	1	11908	933	33	2		2	PHF20	20	34526877	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		34526877	28498643	105	16110											
SEMG2	6406	broad.mit.edu	37	chr20	43836560	43836560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtagctaacaaacaacaaCgtgagactaaaaattctcat	19	9	5	8	1	1	1	1	1	1	1	2	2	1	1	0	0	5	2	0	0	9	5	rs141417035	by1000genomes	TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr20:43836560C>T	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.R208C|SEMG2_uc002xnj.2_Missense_Mutation_p.R208C	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CAAACAACAACGTGAGACTAA	0.403													T	43836560	C	T	43836560	3	4	232	1	0	0	0	0	1	0	0	0	14138	536	19	1		1	SEMG2	20	43836560	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	9309683	43836560	19188960	106	16111											
ADAMTS1	9510	broad.mit.edu	37	chr21	28217207	28217207	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccgagaccccggagcccGctccgcgttccccatgtcgc	4	6	11	20	6	0	1	0	0	0	1	4	3	3	2	7	1	1	3	7	1	0	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr21:28217207G>T	uc002ymf.3	-	0	522	c.67C>A	c.(67-69)Cgg>Agg	p.R23R		NM_006988	NP_008919	Q9UHI8	ATS1_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 1 (ADAMTS1), mRNA.	23					integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCCGGAGCCCGCTCCGCGTTC	0.711											OREG0026151	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28217207	G	T	28217207	2	4	232	1	0	0	0	0	0	0	0	1	255	1086	38	4		4	ADAMTS1	21	28217207	Silent	SNP	G	TCGA-32-2632-01A-01D-1495-08		28217207	19912688	107	16112											
NHP2L1	4809	broad.mit.edu	37	chr22	42071074	42071074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagggcctgcttggagcGcacaaacacgtagggcacat	10	5	12	14	2	0	0	0	0	0	0	0	1	0	1	3	3	3	4	3	3	2	2			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:42071074G>A	uc003bav.3	-	2	363	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	NHP2L1_uc003bat.3_Missense_Mutation_p.R84C	NM_001003796	NP_004999	P55769	NH2L1_HUMAN	Homo sapiens NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae) (NHP2L1), transcript variant 2, mRNA.	84					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						TGCTTGGAGCGCACAAACACG	0.577													A	42071074	G	A	42071074	3	1	232	1	0	0	0	0	1	0	0	0	10486	1087	38	1	140	1	NHP2L1	22	42071074	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08		42071074	9233492	108	16113											
EFCAB6	64800	broad.mit.edu	37	chr22	43933388	43933388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggatcacagttctgcaagGgtggagtgcccgggatcacg	8	8	16	9	2	3	0	2	0	1	0	3	3	3	3	1	4	2	2	1	4	1	1			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chr22:43933388G>A	uc003bdy.2	-	28	4231	c.3917C>T	c.(3916-3918)cCc>cTc	p.P1306L	EFCAB6_uc003bdz.2_Missense_Mutation_p.P1154L|EFCAB6_uc010gzi.2_Missense_Mutation_p.P1154L	NM_022785	NP_942153	Q5THR3	EFCB6_HUMAN	Homo sapiens EF-hand calcium binding domain 6 (EFCAB6), transcript variant 1, mRNA.	1306	Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GTTCTGCAAGGGTGGAGTGCC	0.517													A	43933388	G	A	43933388	3	1	232	1	0	0	0	0	1	0	0	0	4978	1232	43	2	604	2	EFCAB6	22	43933388	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	1862314	43933388	7371178	109	16114											
DMD	1756	broad.mit.edu	37	chrX	32486813	32486813	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttgttgctcttgcagAgaactttgtaaagcctaaaa	12	13	7	9	0	1	1	0	0	1	1	1	2	1	1	2	0	4	4	2	0	5	6			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:32486813A>G	uc004dda.1	-	22	3208	c.2964T>C	c.(2962-2964)tcT>tcC	p.S988S	DMD_uc004dcz.2_Silent_p.S865S|DMD_uc004dcy.1_Silent_p.S984S|DMD_uc004ddb.1_Silent_p.S980S|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	988					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCTCTTGCAGAGAACTTTGTA	0.333													G	32486813	A	G	32486813	2	3	232	1	0	0	0	0	0	0	0	1	4619	291	11	3		3	DMD	23	32486813	Silent	SNP	A	TCGA-32-2632-01A-01D-1495-08		32486813	122783747	110	16115											
RPGR	6103	broad.mit.edu	37	chrX	38182768	38182768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcccaaatgtaaacacaGcacccgaatctgcaaatata	16	10	4	11	1	1	0	0	0	1	0	2	1	2	0	2	0	3	3	2	0	7	5			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:38182768G>A	uc004ded.1	-	1	206	c.38C>T	c.(37-39)gCt>gTt	p.A13V	RPGR_uc004deb.3_Missense_Mutation_p.A13V|RPGR_uc004dea.3_Non-coding_Transcript|RPGR_uc004dec.3_Non-coding_Transcript	NM_001034853	NP_001030025	Q92834	RPGR_HUMAN	Homo sapiens retinitis pigmentosa GTPase regulator (RPGR), transcript variant C, mRNA.	13					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						TGTAAACACAGCACCCGAATC	0.318													A	38182768	G	A	38182768	3	1	232	1	0	0	0	0	1	0	0	0	13639	971	34	2	4035	2	RPGR	23	38182768	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	5695955	38182768	117087792	111	16116											
BHLHB9	80823	broad.mit.edu	37	chrX	102004542	102004543	+	Frame_Shift_Ins	INS	-	-	A																															gcctgtgtatgaaattaatgINSaaaaaaataggcccaaggac																										TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:102004542_102004543insA	uc022cbi.1	+	0	619_620	c.619_620insA	c.(619-621)gaafs	p.E207fs	BHLHB9_uc010nog.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrq.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrr.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrs.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrt.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc004ejo.3_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mru.2_Frame_Shift_Ins_p.E207fs|BHLHB9_uc011mrv.2_Frame_Shift_Ins_p.E207fs	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	207						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGAAATTAATGAAAAAAATAGG	0.45													A	102004543	-	A	102004542	7	5	232	1	0	1	1	0	0	0	0	0	1426	1291	45	0	621	0	BHLHB9	23	102004542	Frame_Shift_Ins	INS	-	TCGA-32-2632-01A-01D-1495-08	63821774	102004542	53266018	112	16117											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011591	105011591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatacccaggaatttcaCaggaacagttctttgctgcc	13	10	8	10	0	2	1	1	0	1	1	2	3	2	3	2	2	4	2	2	2	4	4			TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:105011591C>A	uc004elz.1	+	10	2754	c.1998C>A	c.(1996-1998)caC>caA	p.H666Q		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	666					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGGAATTTCACAGGAACAGTT	0.428													A	105011591	C	A	105011591	3	1	232	1	0	0	0	0	1	0	0	0	7720	477	17	4	2036	4	IL1RAPL2	23	105011591	Missense_Mutation	SNP	C	TCGA-32-2632-01A-01D-1495-08	3007049	105011591	50258969	113	16118											
COL4A5	1287	broad.mit.edu	37	chrX	107841977	107841977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtccccctgggaacccaGgtttaccaggcctcccaggg	7	6	13	15	0	0	0	0	0	0	0	2	2	2	1	6	5	2	1	6	5	2	2	rs104886135		TCGA-32-2632-01A-01D-1495-08	TCGA-32-2632-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27203e18-af27-478c-a224-8bca77a81c90	9066c898-8b09-4549-b148-645610211e47	g.chrX:107841977G>A	uc022ccg.1	+	24	2027	c.1825G>A	c.(1825-1827)Ggt>Agt	p.G609S	COL4A5_uc004enz.1_Missense_Mutation_p.G609S|COL4A5_uc004eob.1_Missense_Mutation_p.G217S	NM_033380	NP_203699	P29400	CO4A5_HUMAN	Homo sapiens collagen, type IV, alpha 5 (COL4A5), transcript variant 2, mRNA.	609	Triple-helical region.		G -> R (in APSX; juvenile type).|G -> V (in APSX; juvenile type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGAACCCAGGTTTACCAGG	0.483									Alport syndrome with Diffuse Leiomyomatosis				A	107841977	G	A	107841977	3	1	232	1	0	0	0	0	1	0	0	0	3725	1000	35	2	1923	2	COL4A5	23	107841977	Missense_Mutation	SNP	G	TCGA-32-2632-01A-01D-1495-08	2830386	107841977	47428583	114	16119											
KDM1A	23028	broad.mit.edu	37	chr1	23381588	23381589	+	Frame_Shift_Del	DEL	CA	CA	-																															ctgtgcttgtccaccgagttCacagttatttagagcgtcat																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:23381588_23381589delCA	uc001bgi.2	+	4	906_907	c.757_758delCA	c.(757-759)cacfs	p.H253fs	KDM1A_uc001bgj.2_Frame_Shift_Del_p.H273fs	NM_015013	NP_055828	O60341	KDM1A_HUMAN	Homo sapiens lysine (K)-specific demethylase 1A (KDM1A), transcript variant 2, mRNA.	253	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CCACCGAGTTCACAGTTATTTA	0.371													-	23381589	CA	-	23381588	7	5	233	1	0	1	0	1	0	0	0	0	8180	826	29	0	839	0	KDM1A	1	23381588	Frame_Shift_Del	DEL	CA	TCGA-32-2634-01A-01D-1495-08		23381588	225869033	1	16120											
TARS2	80222	broad.mit.edu	37	chr1	150471051	150471051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactttggggctctacacCgggccgaagcctctggtggt	5	10	14	12	2	2	1	0	1	2	0	2	2	2	1	3	5	2	1	3	5	2	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:150471051C>T	uc001euq.3	+	10	1319	c.1312C>T	c.(1312-1314)Cgg>Tgg	p.R438W	TARS2_uc010pcd.1_Non-coding_Transcript|TARS2_uc001eur.3_Missense_Mutation_p.R356W|TARS2_uc009wlt.3_Missense_Mutation_p.R64W|TARS2_uc009wls.3_Missense_Mutation_p.R308W	NM_025150	NP_079426	Q9BW92	SYTM_HUMAN	Homo sapiens threonyl-tRNA synthetase 2, mitochondrial (putative) (TARS2), nuclear gene encoding mitochondrial protein, mRNA.	438					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	GGCTCTACACCGGGCCGAAGC	0.632													T	150471051	C	T	150471051	3	4	233	1	0	0	0	0	1	0	0	0	15657	643	23	1	1354	1	TARS2	1	150471051	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	127089463	150471051	98779570	2	16121											
TRIM11	81559	broad.mit.edu	37	chr1	228582635	228582635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcccggagtggagccaagGcccgttccgaggaattgtaa	9	7	15	10	3	0	0	0	0	0	0	2	4	2	3	4	5	1	2	4	5	3	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:228582635G>A	uc001hss.3	-	5	1433	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	TRIM11_uc010pvx.2_Missense_Mutation_p.A392V	NM_145214	NP_660215	Q96F44	TRI11_HUMAN	Homo sapiens tripartite motif containing 11 (TRIM11), mRNA.	393	B30.2/SPRY.				response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				TGGAGCCAAGGCCCGTTCCGA	0.597													A	228582635	G	A	228582635	3	1	233	1	0	0	0	0	1	0	0	0	16588	1203	42	2	232	2	TRIM11	1	228582635	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	78111584	228582635	20667986	3	16122											
COG2	22796	broad.mit.edu	37	chr1	230820980	230820980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatactctgtgtttgtcaatGaggtaagggctggctgtgga	8	13	15	5	0	2	1	1	1	1	0	2	3	2	2	0	4	1	4	0	4	3	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr1:230820980G>C	uc001htw.3	+	11	1529	c.1378G>C	c.(1378-1380)Gag>Cag	p.E460Q	COG2_uc001htx.3_Missense_Mutation_p.E460Q|COG2_uc010pwc.2_Missense_Mutation_p.E333Q	NM_007357	NP_031383	Q14746	COG2_HUMAN	Homo sapiens component of oligomeric golgi complex 2 (COG2), transcript variant 1, mRNA.	460					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				GTTTGTCAATGAGGTAAGGGC	0.423													C	230820980	G	C	230820980	3	2	233	1	0	0	0	0	1	0	0	0	3689	1291	45	4	1424	4	COG2	1	230820980	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	2238345	230820980	18429641	4	16123											
THSD7B	80731	broad.mit.edu	37	chr2	137814764	137814764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatcaaacccggcaggtttCgtgtacaagaagtgatggac	12	10	11	8	2	1	2	1	1	0	1	2	3	1	3	1	3	2	3	1	3	5	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:137814764C>T	uc002tva.1	+	1	821	c.821C>T	c.(820-822)tCg>tTg	p.S274L	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_Missense_Mutation_p.S164L	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CGGCAGGTTTCGTGTACAAGA	0.363													T	137814764	C	T	137814764	3	4	233	1	0	0	0	0	1	0	0	0	15980	893	31	1	827	1	THSD7B	2	137814764	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		137814764	105384609	5	16124											
OBFC2A	64859	broad.mit.edu	37	chr2	192546717	192546717	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacactttatactggaagGggtggtgaacttcaaaaaat	14	11	10	6	0	1	2	1	2	0	0	1	3	1	3	0	4	2	0	0	4	7	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:192546717G>A	uc002usx.3	+	2	756	c.276G>A	c.(274-276)agG>agA	p.R92R	OBFC2A_uc021vuf.1_Non-coding_Transcript|OBFC2A_uc002usw.3_Silent_p.R12R|OBFC2A_uc002usy.3_Non-coding_Transcript|OBFC2A_uc021vug.1_5'Flank	NM_001031716	NP_001241665	Q96AH0	SOSB2_HUMAN	Homo sapiens oligonucleotide/oligosaccharide-binding fold containing 2A (OBFC2A), transcript variant 1, mRNA.	92					double-strand break repair via homologous recombination|G2/M transition checkpoint|response to ionizing radiation	SOSS complex	single-stranded DNA binding			kidney(2)|large_intestine(2)|lung(2)	6			OV - Ovarian serous cystadenocarcinoma(117;0.061)|Epithelial(96;0.244)			ATACTGGAAGGGGTGGTGAAC	0.289													A	192546717	G	A	192546717	2	1	233	1	0	0	0	0	0	0	0	1	10884	1223	43	2		2	OBFC2A	2	192546717	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	54731953	192546717	50652656	6	16125											
RPE	6120	broad.mit.edu	37	chr2	210881273	210881273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaacctcagttgagtatttgGcaccatgggctaatcagata	12	11	10	8	0	2	2	2	1	0	1	2	3	2	2	2	2	1	4	2	2	4	5			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr2:210881273G>A	uc002vdn.3	+	3	419	c.385G>A	c.(385-387)Gca>Aca	p.A129T	RPE_uc002vdo.3_Missense_Mutation_p.A79T|RPE_uc002vdp.3_Missense_Mutation_p.A76T|RPE_uc010zjf.2_Missense_Mutation_p.A129T|RPE_uc010fup.3_Missense_Mutation_p.A61T|RPE_uc002vdq.3_Missense_Mutation_p.A79T|RPE_uc002vdr.3_Intron	NM_199229	NP_954699	Q96AT9	RPE_HUMAN	Homo sapiens ribulose-5-phosphate-3-epimerase (RPE), transcript variant 1, mRNA.	129					pentose-phosphate shunt	cytosol	metal ion binding|protein homodimerization activity|ribulose-phosphate 3-epimerase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	9				Epithelial(149;0.00241)|Lung(261;0.041)|all cancers(144;0.0429)|LUSC - Lung squamous cell carcinoma(261;0.0431)		TGAGTATTTGGCACCATGGGC	0.398													A	210881273	G	A	210881273	3	1	233	1	0	0	0	0	1	0	0	0	13635	1203	42	2	457	2	RPE	2	210881273	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	18334556	210881273	32318100	7	16126											
NISCH	11188	broad.mit.edu	37	chr3	52521429	52521440	+	In_Frame_Del	DEL	GAGGAGGAGGAA	GAGGAGGAGGAA	-																															aacagggcgaggaggaggatGaggaggaggaagaagaggag																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr3:52521429_52521440delGAGGAGGAGGAA	uc003ded.4	+	15	2055_2066	c.1921_1932delGAGGAGGAGGAA	c.(1921-1932)gaggaggaggaadel	p.EEEE641del	NISCH_uc003dee.4_In_Frame_Del_p.EEEE130del|NISCH_uc003deg.1_Non-coding_Transcript	NM_007184	NP_009115	Q9Y2I1	NISCH_HUMAN	Homo sapiens nischarin (NISCH), mRNA.	641	Glu-rich.|Interaction with PAK1 (By similarity).|Necessary for homooligomerization and targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		ggaggaggatgaggaggaggaagaagaggagg	0.651													-	52521440	GAGGAGGAGGAA	-	52521429	7	5	233	1	0	1	0	1	0	0	0	0	10508	1291	45	0	1983	0	NISCH	3	52521429	In_Frame_Del	DEL	GAGGAGGAGGAA	TCGA-32-2634-01A-01D-1495-08		52521429	145501001	8	16127											
MAN2B2	23324	broad.mit.edu	37	chr4	6598876	6598876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgggcttctacacgtcccGcagctcactgaaggggctgg	7	7	14	13	3	2	1	1	1	1	0	3	2	3	1	1	4	2	4	1	4	2	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:6598876G>A	uc003gjf.1	+	7	1130	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H	MAN2B2_uc003gje.1_Missense_Mutation_p.R365H|MAN2B2_uc011bwf.1_Missense_Mutation_p.R314H	NM_015274	NP_056089	Q9Y2E5	MA2B2_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 2 (MAN2B2), mRNA.	365			R -> C (in dbSNP:rs6858328).		mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TACACGTCCCGCAGCTCACTG	0.632													A	6598876	G	A	6598876	3	1	233	1	0	0	0	0	1	0	0	0	9292	1087	38	1	1124	1	MAN2B2	4	6598876	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		6598876	184555400	9	16128											
KIT	3815	broad.mit.edu	37	chr4	55561826	55561826	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttttgagatcctggaTgaaacgaatgagaataagca	15	10	11	5	1	0	3	0	3	0	2	1	8	1	5	1	2	2	1	1	2	4	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:55561826T>A	uc010igr.3	+	1	303	c.216T>A	c.(214-216)gaT>gaA	p.D72E	KIT_uc010igs.3_Missense_Mutation_p.D72E	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	72	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGATCCTGGATGAAACGAATG	0.463		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55561826	T	A	55561826	3	1	233	1	0	0	0	0	1	0	0	0	8387	1461	51	5	222	5	KIT	4	55561826	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	48962950	55561826	135592450	10	16129											
BANK1	55024	broad.mit.edu	37	chr4	102816534	102816534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatattatgagttccagTctcttcaaactgaaatttgt	12	16	5	8	0	2	2	1	2	1	0	4	2	3	2	2	0	2	1	2	0	5	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:102816534T>C	uc003hvy.4	+	5	1250	c.976T>C	c.(976-978)Tct>Cct	p.S326P	BANK1_uc003hvx.4_Missense_Mutation_p.S311P|BANK1_uc010ill.3_Missense_Mutation_p.S193P|BANK1_uc003hvz.4_Missense_Mutation_p.S296P	NM_017935	NP_001077376	Q8NDB2	BANK1_HUMAN	Homo sapiens B-cell scaffold protein with ankyrin repeats 1 (BANK1), transcript variant 1, mRNA.	326	DBB.				B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		TGAGTTCCAGTCTCTTCAAAC	0.303													C	102816534	T	C	102816534	3	2	233	1	0	0	0	0	1	0	0	0	1314	1667	58	3	998	3	BANK1	4	102816534	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	47254708	102816534	88337742	11	16130											
OTUD4	54726	broad.mit.edu	37	chr4	146059760	146059760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggtaggcctggtgcagagGgtacaggtaagaatgtgggg	10	7	19	5	0	0	2	0	0	0	2	0	2	0	2	1	7	2	4	1	7	4	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr4:146059760G>A	uc003ika.4	-	20	2110	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S		NM_001102653	NP_001096123	Q01804	OTUD4_HUMAN	Homo sapiens OTU domain containing 4 (OTUD4), transcript variant 3, mRNA.	722							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGGTGCAGAGGGTACAGGTAA	0.488													A	146059760	G	A	146059760	3	1	233	1	0	0	0	0	1	0	0	0	11390	1232	43	2	1181	2	OTUD4	4	146059760	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	43243226	146059760	45094516	12	16131											
DNAH5	1767	broad.mit.edu	37	chr5	13841119	13841119	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggtgacgtctatcaatgTattgagtagctccaggaaag	11	11	12	7	2	2	2	1	2	1	0	3	3	3	3	1	2	1	3	1	2	5	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:13841119T>C	uc003jfd.2	-	33	5647	c.5605A>G	c.(5605-5607)Aca>Gca	p.T1869A		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1869	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTATCAATGTATTGAGTAGC	0.413									Kartagener syndrome				C	13841119	T	C	13841119	3	2	233	1	0	0	0	0	1	0	0	0	4643	1638	57	3	8453	3	DNAH5	5	13841119	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		13841119	167074141	13	16132											
PRDM9	56979	broad.mit.edu	37	chr5	23522425	23522425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacctagaactcaggaagaAggagactgaaagaaagatgt	19	5	11	6	0	1	6	1	1	0	5	1	8	1	7	1	2	2	0	1	2	7	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:23522425A>G	uc003jgo.3	+	6	703	c.521A>G	c.(520-522)aAg>aGg	p.K174R		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	174					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CTCAGGAAGAAGGAGACTGAA	0.428										HNSCC(3;0.000094)			G	23522425	A	G	23522425	3	3	233	1	0	0	0	0	1	0	0	0	12549	72	3	3	543	3	PRDM9	5	23522425	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	9681306	23522425	157392835	14	16133											
PIK3R1	5295	broad.mit.edu	37	chr5	67591121	67591121	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaaaccagaccttatcCagctgagaaagacgagagac	16	6	9	10	1	0	4	0	1	0	4	1	7	1	4	3	0	2	2	3	0	4	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:67591121C>T	uc003jva.3	+	12	2294	c.1714C>T	c.(1714-1716)Cag>Tag	p.Q572*	PIK3R1_uc003jvc.3_Nonsense_Mutation_p.Q272*|PIK3R1_uc003jvd.3_Nonsense_Mutation_p.Q302*|PIK3R1_uc003jve.3_Nonsense_Mutation_p.Q251*|PIK3R1_uc021xzn.1_Nonsense_Mutation_p.Q209*|PIK3R1_uc011crb.2_Nonsense_Mutation_p.Q242*	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	572					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.L570_D578del(2)|p.L570_Q572del(2)|p.I571I(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGACCTTATCCAGCTGAGAAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67591121	C	T	67591121	4	4	233	1	0	0	0	0	0	1	0	0	11995	595	21	2	1890	2	PIK3R1	5	67591121	Nonsense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	44068696	67591121	113324139	15	16134											
FTMT	94033	broad.mit.edu	37	chr5	121187841	121187841	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgggaccctaccgggccCgccgccggcccctctcgggt	2	5	13	21	6	1	0	0	0	1	0	3	1	2	1	8	4	1	0	8	4	1	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:121187841C>T	uc003kss.3	+	0	192	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	61					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.G60W(1)|p.P61S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTACCGGGCCCGCCGCCGGCC	0.736													T	121187841	C	T	121187841	2	4	233	1	0	0	0	0	0	0	0	1	6137	639	23	1		1	FTMT	5	121187841	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08	53596720	121187841	59727419	16	16135											
C5orf25	375484	broad.mit.edu	37	chr5	175717776	175717776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctctctgtcatggaaaccCcagccagaaaagaaatatca	15	7	8	11	0	3	2	2	0	1	2	4	3	3	3	3	2	2	1	3	2	5	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:175717776C>T	uc003mds.4	+	3	1599	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	C5orf25_uc003mdr.3_Intron|C5orf25_uc003mdt.4_Intron|C5orf25_uc011dfk.1_Missense_Mutation_p.P417S			Q8NDZ2	CE025_HUMAN	Homo sapiens chromosome 5 open reading frame 25 (C5orf25), mRNA.	398												all_cancers(89;0.00381)|Renal(175;0.000269)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.119)		CATGGAAACCCCAGCCAGAAA	0.517													T	175717776	C	T	175717776	3	4	233	1	0	0	0	0	1	0	0	0	2310	638	22	2		2	C5orf25	5	175717776	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	54529935	175717776	5197484	17	16136											
RNF130	55819	broad.mit.edu	37	chr5	179467635	179467635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgtggatcacagcccAgatgatcagcaactgaaaag	13	8	12	8	0	2	3	2	2	0	1	2	4	2	4	1	2	3	2	1	2	3	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr5:179467635A>T	uc003mll.1	-	1	667	c.260T>A	c.(259-261)cTg>cAg	p.L87Q	RNF130_uc003mlm.1_Missense_Mutation_p.L87Q	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	87					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding	p.H86Y(1)		breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATCACAGCCCAGATGATCAGC	0.388													T	179467635	A	T	179467635	3	4	233	1	0	0	0	0	1	0	0	0	13529	188	7	5	1031	5	RNF130	5	179467635	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	3749859	179467635	1447625	18	16137											
PACRG	135138	broad.mit.edu	37	chr6	163235309	163235309	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggaaacaaaatcgcctGgaaggtaagtcagggcacag	17	4	13	7	1	1	0	1	0	0	0	2	3	1	2	1	4	1	2	1	4	6	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr6:163235309G>A	uc003qua.3	+	2	511	c.287G>A	c.(286-288)tGg>tAg	p.W96*	PACRG_uc003qub.3_Nonsense_Mutation_p.W96*|PACRG_uc003quc.3_Nonsense_Mutation_p.W96*	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	96										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		AAAATCGCCTGGAAGGTAAGT	0.488													A	163235309	G	A	163235309	4	1	233	1	0	0	0	0	0	1	0	0	11446	1357	47	2	293	2	PACRG	6	163235309	Nonsense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		163235309	7879758	19	16138											
IL6	3569	broad.mit.edu	37	chr7	22769182	22769182	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttttggagtttgaggtatAcctagagtacctccagaaca	11	13	9	8	0	1	3	0	1	1	2	2	4	2	4	3	2	3	3	3	2	5	7			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:22769182A>T	uc003svj.4	+	3	490	c.374A>T	c.(373-375)tAc>tTc	p.Y125F	LOC541472_uc010kun.2_5'Flank|IL6_uc011jyo.1_Missense_Mutation_p.Y125F|IL6_uc011jyp.1_Missense_Mutation_p.Y49F|IL6_uc011jyq.1_Missense_Mutation_p.Y179F	NM_000600	NP_000591	P05231	IL6_HUMAN	Homo sapiens interleukin 6 (interferon, beta 2) (IL6), mRNA.	125					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	TTTGAGGTATACCTAGAGTAC	0.443													T	22769182	A	T	22769182	3	4	233	1	0	0	0	0	1	0	0	0	7759	391	14	5	388	5	IL6	7	22769182	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08		22769182	136369481	20	16139											
NOD1	10392	broad.mit.edu	37	chr7	30496383	30496383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacaatctccgcatcttcgGccgagaagtagtcattcttc	10	11	7	13	3	4	1	1	0	3	1	7	2	4	1	2	1	0	2	2	1	3	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:30496383G>A	uc003tav.3	-	3	678	c.155C>T	c.(154-156)gCc>gTc	p.A52V	NOD1_uc010kvs.2_Missense_Mutation_p.A52V|NOD1_uc003tax.2_Non-coding_Transcript|NOD1_uc003tay.2_Non-coding_Transcript|NOD1_uc010kvt.2_Non-coding_Transcript|NOD1_uc010kvu.2_Non-coding_Transcript	NM_006092	NP_006083	Q9Y239	NOD1_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 1 (NOD1), mRNA.	52	CARD.				activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						CGCATCTTCGGCCGAGAAGTA	0.552													A	30496383	G	A	30496383	3	1	233	1	0	0	0	0	1	0	0	0	10592	1203	42	2	2750	2	NOD1	7	30496383	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	7727201	30496383	128642280	21	16140											
ABCA13	154664	broad.mit.edu	37	chr7	48318026	48318026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcaagatcttgggtcagCtcttcaccttgtaagagaat	12	12	8	9	0	5	2	3	0	2	2	5	3	5	2	1	1	1	2	1	1	4	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:48318026C>G	uc003toq.2	+	17	7259	c.7235C>G	c.(7234-7236)gCt>gGt	p.A2412G	ABCA13_uc010kys.1_5'Flank	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	2412					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTGGGTCAGCTCTTCACCTT	0.383													G	48318026	C	G	48318026	3	3	233	1	0	0	0	0	1	0	0	0	31	797	28	4	7134	4	ABCA13	7	48318026	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	17821643	48318026	110820637	22	16141											
RABGEF1	27342	broad.mit.edu	37	chr7	66240358	66240358	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaattcttcagtgcatcTtccagggtcggatcaaagaa	14	10	9	8	1	4	2	2	0	2	2	6	3	5	3	1	2	1	1	1	2	4	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:66240358T>C	uc003tvf.3	+	5					RABGEF1_uc003tvg.3_5'UTR|RABGEF1_uc003tvh.3_Silent_p.S108S|RABGEF1_uc010lag.3_Silent_p.S108S|RABGEF1_uc011kee.2_Silent_p.S122S|RABGEF1_uc003tvi.3_5'UTR	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.						endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TCAGTGCATCTTCCAGGGTCG	0.463													C	66240358	T	C	66240358	2	2	233	1	0	0	0	0	0	0	0	1	13054	1596	56	3		3	RABGEF1	7	66240358	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	17922332	66240358	92898305	23	16142											
SEMA3C	10512	broad.mit.edu	37	chr7	80430136	80430136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagtttccagcagaaacAcatcctctataaaaaggaaa	18	9	5	9	0	2	1	1	0	1	1	4	2	4	2	2	1	2	2	2	1	7	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:80430136A>T	uc011kgw.2	-	9	1056	c.977T>A	c.(976-978)gTg>gAg	p.V326E	SEMA3C_uc003uhj.3_Missense_Mutation_p.V308E|SEMA3C_uc011kgx.1_Missense_Mutation_p.V160E	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	308	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGCAGAAACACATCCTCTAT	0.279													T	80430136	A	T	80430136	3	4	233	1	0	0	0	0	1	0	0	0	14119	159	6	5	1368	5	SEMA3C	7	80430136	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	14189778	80430136	78708527	24	16143											
CACNA2D1	781	broad.mit.edu	37	chr7	81591256	81591256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accactgaatgatttactgtCgttatcgaagaaatactggg	13	12	9	7	2	0	3	0	2	0	1	2	4	0	3	1	1	2	1	1	1	6	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:81591256C>T	uc003uhr.1	-	35	3176	c.2920G>A	c.(2920-2922)Gac>Aac	p.D974N	CACNA2D1_uc011kgy.1_Missense_Mutation_p.D186N	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	986						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GATTTACTGTCGTTATCGAAG	0.418													T	81591256	C	T	81591256	3	4	233	1	0	0	0	0	1	0	0	0	2574	884	31	1	371	1	CACNA2D1	7	81591256	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	1161120	81591256	77547407	25	16144											
TES	26136	broad.mit.edu	37	chr7	115889244	115889244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaatgttatgatattgaCgaatccagttgctgccaaga	13	11	9	8	2	0	3	0	2	0	1	1	4	1	3	2	0	2	4	2	0	5	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr7:115889244C>T	uc003vho.3	+	2	499	c.284C>T	c.(283-285)aCg>aTg	p.T95M	TES_uc011kmx.2_Missense_Mutation_p.T95M|TES_uc011kmy.2_Intron|TES_uc010lka.2_Missense_Mutation_p.T86M|TES_uc003vhp.3_Missense_Mutation_p.T86M|TES_uc022aki.1_Non-coding_Transcript	NM_015641	NP_690042	Q9UGI8	TES_HUMAN	Homo sapiens testis derived transcript (3 LIM domains) (TES), transcript variant 1, mRNA.	95	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding	p.T95M(3)		endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			ATGATATTGACGAATCCAGTT	0.393													T	115889244	C	T	115889244	3	4	233	1	0	0	0	0	1	0	0	0	15865	536	19	1	294	1	TES	7	115889244	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	34297988	115889244	43249419	26	16145											
WDYHV1	55093	broad.mit.edu	37	chr8	124440173	124440173	+	Frame_Shift_Del	DEL	T	T	-																															ttttatttcagtgaagaaaaTatttggaagctctgtgaata																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr8:124440173delT	uc003yqn.1	+	1	218	c.93delT	c.(91-93)aatfs	p.N31fs	WDYHV1_uc011lij.1_5'UTR	NM_018024	NP_060494	Q96HA8	NTAQ1_HUMAN	Homo sapiens WDYHV motif containing 1 (WDYHV1), mRNA.	31					protein modification process	cytosol|nucleus	protein binding|protein N-terminal glutamine amidohydrolase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(3)	17						GTGAAGAAAATATTTGGAAGC	0.294													-	124440173	T	-	124440173	7	5	233	1	0	1	0	1	0	0	0	0	17445	1403	49	0	99	0	WDYHV1	8	124440173	Frame_Shift_Del	DEL	T	TCGA-32-2634-01A-01D-1495-08		124440173	21923849	27	16146											
PTEN	5728	broad.mit.edu	37	chr10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaacccttttgtgaaGatcttgaccaatggctaagt	12	14	7	8	0	2	3	1	2	1	1	2	3	2	3	2	1	1	1	2	1	5	5	rs57374291		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:89692835G>T	uc001kfb.3	+	4	1351	c.319G>T	c.(319-321)Gat>Tat	p.D107Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.D107Y(6)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.D107N(2)|p.D107A(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692835	G	T	89692835	3	4	233	1	0	0	0	0	1	0	0	0	12823	942	33	4	337	4	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		89692835	45841912	28	16147											
NFKB2	4791	broad.mit.edu	37	chr10	104158521	104158521	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaggtgcagcggaagcgGaggaaggccttgcccacctt	10	5	16	10	2	0	1	0	0	0	1	0	5	0	4	3	5	4	1	3	5	3	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr10:104158521G>T	uc001kvb.3	+	11	1282	c.1017G>T	c.(1015-1017)cgG>cgT	p.R339R	NFKB2_uc001kva.3_Silent_p.R339R|NFKB2_uc010qqk.1_Silent_p.R339R|NFKB2_uc001kvd.3_Silent_p.R339R|NFKB2_uc009xxc.3_Silent_p.R339R	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	339	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		AGCGGAAGCGGAGGAAGGCCT	0.637			T	IGH@	B-NHL								T	104158521	G	T	104158521	2	4	233	1	0	0	0	0	0	0	0	1	10452	1161	41	4		4	NFKB2	10	104158521	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	14465686	104158521	31376226	29	16148											
MUC5B	727897	broad.mit.edu	37	chr11	1158988	1158988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcggccagaccggctgtgTccctgtgtcaaagtgtgcct	6	10	12	13	2	1	1	1	0	0	1	3	1	2	1	4	2	1	1	4	2	1	0			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:1158988T>C	uc021qbr.1	+	9	1213	c.1166T>C	c.(1165-1167)gTc>gCc	p.V389A				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	380					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCGGCTGTGTCCCTGTGTCA	0.662													C	1158988	T	C	1158988	3	2	233	1	0	0	0	0	1	0	0	0	10055	1682	58	3		3	MUC5B	11	1158988	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		1158988	133847528	30	16149											
OR51L1	119682	broad.mit.edu	37	chr11	5020755	5020755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccctctctcacgccttctgTttgcaccaggatgttctaag	6	13	8	14	1	4	0	1	0	3	0	5	1	4	1	3	1	1	3	3	1	1	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:5020755T>C	uc010qyu.2	+	0	543	c.543T>C	c.(541-543)tgT>tgC	p.C181C		NM_001004755	NP_001004755	Q8NGJ5	O51L1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily L, member 1 (OR51L1), mRNA.	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACGCCTTCTGTTTGCACCAGG	0.473													C	5020755	T	C	5020755	2	2	233	1	0	0	0	0	0	0	0	1	11178	1731	60	3		3	OR51L1	11	5020755	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	3861767	5020755	129985761	31	16150											
OR4D6	219983	broad.mit.edu	37	chr11	59225156	59225156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctctccacgtgcacGtcccacatgctggtggtgac	7	8	11	15	2	1	1	0	1	1	0	3	1	2	1	3	3	2	2	3	3	1	0			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59225156G>A	uc010rku.2	+	0	723	c.723G>A	c.(721-723)acG>acA	p.T241T		NM_001004708	NP_001004708	Q8NGJ1	OR4D6_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 6 (OR4D6), mRNA.	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						CCACGTGCACGTCCCACATGC	0.557													A	59225156	G	A	59225156	2	1	233	1	0	0	0	0	0	0	0	1	11134	1132	40	1		1	OR4D6	11	59225156	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	54204401	59225156	75781360	32	16151											
OR4D11	219986	broad.mit.edu	37	chr11	59271382	59271382	+	Missense_Mutation	SNP	A	A	T																															acctccttggtggggcagacAttttttctctctctgtgatg																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271382A>T	uc001noa.1	+	0	334	c.334A>T	c.(334-336)Att>Ttt	p.I112F		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGGGCAGACATTTTTTCTCT	0.473													T	59271382	A	T	59271382	3	4	233	1	0	0	0	0	1	0	0	0	11131	217	8	5	336	5	OR4D11	11	59271382	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	46226	59271382	75735134	33	16152	20	2									
OR4D11	219986	broad.mit.edu	37	chr11	59271391	59271391	+	Missense_Mutation	SNP	C	C	G																															gtggggcagacattttttctCtctctgtgatggcgtttgac																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:59271391C>G	uc001noa.1	+	0	343	c.343C>G	c.(343-345)Ctc>Gtc	p.L115V		NM_001004706	NP_001004706	Q8NGI4	OR4DB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 11 (OR4D11), mRNA.	115					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CATTTTTTCTCTCTCTGTGAT	0.488													G	59271391	C	G	59271391	3	3	233	1	0	0	0	0	1	0	0	0	11131	913	32	4	345	4	OR4D11	11	59271391	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	9	59271391	75735125	34	16153	20	2									
CHRDL2	25884	broad.mit.edu	37	chr11	74414523	74414523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctccccgtgggagtacGtcttcccgccatgcacacag	8	7	9	17	3	1	0	0	0	1	0	3	1	3	1	5	1	2	2	5	1	1	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:74414523G>A	uc001ovh.3	-	7	1026	c.773C>T	c.(772-774)aCg>aTg	p.T258M	CHRDL2_uc001ovg.3_Missense_Mutation_p.T142M|CHRDL2_uc001ovi.3_Missense_Mutation_p.T258M|CHRDL2_uc001ovj.1_Non-coding_Transcript|CHRDL2_uc001ovk.1_Intron	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	258	VWFC 3.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GTGGGAGTACGTCTTCCCGCC	0.657													A	74414523	G	A	74414523	3	1	233	1	0	0	0	0	1	0	0	0	3404	1145	40	1	602	1	CHRDL2	11	74414523	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	15143132	74414523	60591993	35	16154											
EXPH5	23086	broad.mit.edu	37	chr11	108383232	108383232	+	Frame_Shift_Del	DEL	C	C	-																															tttgatttgcttcaatgaggCtcctgtgatcactggtgggt																										TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:108383232delC	uc001pkk.3	-	5	3113	c.3002delG	c.(3001-3003)agcfs	p.S1001fs	EXPH5_uc010rvz.2_Frame_Shift_Del_p.S845fs|EXPH5_uc010rvy.2_Frame_Shift_Del_p.S813fs	NM_015065	NP_055880	Q149M6	Q149M6_HUMAN	Homo sapiens exophilin 5 (EXPH5), mRNA.	1001					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTCAATGAGGCTCCTGTGATC	0.363													-	108383232	C	-	108383232	7	5	233	1	0	1	0	1	0	0	0	0	5364	797	28	0	2971	0	EXPH5	11	108383232	Frame_Shift_Del	DEL	C	TCGA-32-2634-01A-01D-1495-08	33968709	108383232	26623284	36	16155											
SIK2	23235	broad.mit.edu	37	chr11	111590592	111590592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatggagacctccattgacGaagggctggagacagaagga	13	6	15	7	1	0	5	0	2	0	3	1	9	1	6	2	4	0	1	2	4	2	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:111590592G>A	uc001plt.3	+	9	1478	c.1360G>A	c.(1360-1362)Gaa>Aaa	p.E454K		NM_015191	NP_056006	Q9H0K1	SIK2_HUMAN	Homo sapiens salt-inducible kinase 2 (SIK2), mRNA.	454					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CTCCATTGACGAAGGGCTGGA	0.587													A	111590592	G	A	111590592	3	1	233	1	0	0	0	0	1	0	0	0	14412	1059	37	1	1398	1	SIK2	11	111590592	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	3207360	111590592	23415924	37	16156											
ZBTB44	29068	broad.mit.edu	37	chr11	130130851	130130851	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactctgagatgcactgacAggctgggacacttcctcatg	10	9	11	11	0	2	2	1	2	1	1	3	5	3	3	1	2	2	2	1	2	1	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr11:130130851A>T	uc001qga.3	-	1	1312	c.918T>A	c.(916-918)ccT>ccA	p.P306P	ZBTB44_uc001qgb.4_Silent_p.P306P|ZBTB44_uc001qfx.3_Non-coding_Transcript|ZBTB44_uc001qgc.1_Silent_p.P306P|ZBTB44_uc001qfz.3_Silent_p.P306P	NM_014155	NP_054874	Q8NCP5	ZBT44_HUMAN	Homo sapiens zinc finger and BTB domain containing 44 (ZBTB44), mRNA.	306					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		ATGCACTGACAGGCTGGGACA	0.473													T	130130851	A	T	130130851	2	4	233	1	0	0	0	0	0	0	0	1	17646	175	7	5		5	ZBTB44	11	130130851	Silent	SNP	A	TCGA-32-2634-01A-01D-1495-08	18540259	130130851	4875665	38	16157											
ANO2	57101	broad.mit.edu	37	chr12	5672695	5672695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtggggatgtctggaaTcatccagtccacgaggacgc	8	8	14	11	3	2	0	1	0	1	0	5	4	5	3	3	4	0	0	3	4	1	0			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:5672695T>A	uc001qnm.2	-	25	2839	c.2767A>T	c.(2767-2769)Att>Ttt	p.I923F		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	928						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.M923I(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ATGTCTGGAATCATCCAGTCC	0.542													A	5672695	T	A	5672695	3	1	233	1	0	0	0	0	1	0	0	0	697	1435	50	5	233	5	ANO2	12	5672695	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08		5672695	128179200	39	16158											
PLEKHG6	55200	broad.mit.edu	37	chr12	6436676	6436676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgacccccaagctcctcaaCgccgaagcgcccccgaactg	9	3	8	21	5	1	0	1	0	0	0	2	3	2	0	7	0	4	1	7	0	4	0			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:6436676C>T	uc001qnr.3	+	14	2075	c.1927C>T	c.(1927-1929)Cgc>Tgc	p.R643C	PLEKHG6_uc010sew.2_Missense_Mutation_p.R643C|PLEKHG6_uc010sex.2_Missense_Mutation_p.R611C	NM_018173	NP_060643	Q3KR16	PKHG6_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 6 (PLEKHG6), transcript variant 1, mRNA.	643					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCTCCTCAACGCCGAAGCGC	0.642													T	6436676	C	T	6436676	3	4	233	1	0	0	0	0	1	0	0	0	12151	536	19	1	2027	1	PLEKHG6	12	6436676	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	763981	6436676	127415219	40	16159											
HCFC2	29915	broad.mit.edu	37	chr12	104461817	104461817	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatagcttctctttataTggtaacaaatgctatttgtt	11	17	7	6	0	1	0	0	0	1	0	2	1	1	1	0	2	3	4	0	2	6	9			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr12:104461817T>C	uc001tkj.4	+	2	508	c.405T>C	c.(403-405)taT>taC	p.Y135Y	HCFC2_uc009zul.3_Non-coding_Transcript	NM_013320	NP_037452	Q9Y5Z7	HCFC2_HUMAN	Homo sapiens host cell factor C2 (HCFC2), mRNA.	135					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						TCTCTTTATATGGTAACAAAT	0.418													C	104461817	T	C	104461817	2	2	233	1	0	0	0	0	0	0	0	1	7048	1471	51	3		3	HCFC2	12	104461817	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	98025141	104461817	29390078	41	16160											
RB1	5925	broad.mit.edu	37	chr13	49039230	49039230	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgaaaacaaatattttgCagtatgcttccaccagggta	14	11	8	8	0	0	1	0	1	0	0	1	2	1	1	2	1	3	4	2	1	6	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:49039230C>T	uc001vcb.3	+	21	2474	c.2308C>T	c.(2308-2310)Cag>Tag	p.Q770*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	770	Domain B.|Interaction with LIMD1.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(12)|p.L769fs*2(2)|p.Q770fs*24(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAATATTTTGCAGTATGCTTC	0.323		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49039230	C	T	49039230	4	4	233	1	0	0	0	0	0	1	0	0	13186	711	25	2	2394	2	RB1	13	49039230	Nonsense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		49039230	66130648	42	16161											
KCNRG	283518	broad.mit.edu	37	chr13	50589726	50589726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcttctcgtttggcaCgcatgttagatggcagagac	7	13	11	10	2	1	2	0	0	1	2	3	3	2	2	1	2	1	6	1	2	1	4			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr13:50589726C>T	uc001vdu.3	+	0	337	c.97C>T	c.(97-99)Cgc>Tgc	p.R33C	DLEU2_uc001vdn.1_Intron|DLEU2_uc001vdo.1_Intron|KCNRG_uc001vdt.3_Missense_Mutation_p.R33C|TRIM13_uc001vdp.1_3'UTR|TRIM13_uc001vdq.1_3'UTR|TRIM13_uc001vdr.1_3'UTR|TRIM13_uc001vds.1_3'UTR	NM_173605	NP_775876	Q8N5I3	KCNRG_HUMAN	Homo sapiens potassium channel regulator (KCNRG), transcript variant 1, mRNA.	33	BTB.					voltage-gated potassium channel complex	identical protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.48e-10)|COAD - Colon adenocarcinoma(199;0.204)		TCGTTTGGCACGCATGTTAGA	0.408													T	50589726	C	T	50589726	3	4	233	1	0	0	0	0	1	0	0	0	8145	536	19	1	99	1	KCNRG	13	50589726	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	1550496	50589726	64580152	43	16162											
TM9SF1	10548	broad.mit.edu	37	chr14	24661549	24661549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacatgcccagcagtgcCatgacaataatgcctgcagg	12	8	10	11	0	0	2	0	2	0	0	0	2	0	2	3	1	6	2	3	1	3	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:24661549C>T	uc010tob.1	-	7	2320	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	IPO4_uc001wmv.1_5'Flank|IPO4_uc001wmw.1_5'Flank|IPO4_uc010tnz.1_5'Flank|IPO4_uc001wmx.1_5'Flank|IPO4_uc001wmy.1_5'Flank|IPO4_uc001wmz.2_5'Flank|TM9SF1_uc001wnb.1_Missense_Mutation_p.M327I|TM9SF1_uc010toa.1_Missense_Mutation_p.M240I|TM9SF1_uc001wnc.3_Missense_Mutation_p.M327I	NM_006405	NP_006396	O15321	TM9S1_HUMAN	Homo sapiens transmembrane 9 superfamily member 1 (TM9SF1), transcript variant 1, mRNA.	327					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				NS(1)|breast(4)|endometrium(3)|large_intestine(11)|lung(4)|ovary(1)	24				GBM - Glioblastoma multiforme(265;0.0183)		CCAGCAGTGCCATGACAATAA	0.537													T	24661549	C	T	24661549	3	4	233	1	0	0	0	0	1	0	0	0	16077	594	21	2	894	2	TM9SF1	14	24661549	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		24661549	82687991	44	16163											
SERPINA4	5267	broad.mit.edu	37	chr14	95033524	95033524	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcaaaatgagggagatTgaagaggttctgactccaga	15	7	13	6	0	1	6	0	3	1	3	2	7	2	6	1	3	0	2	1	3	4	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr14:95033524T>A	uc010avd.3	+	2	1252	c.978T>A	c.(976-978)atT>atA	p.I326I	SERPINA4_uc001ydk.3_Silent_p.I289I|SERPINA4_uc001ydl.3_Silent_p.I289I	NM_006215	NP_006206	P29622	KAIN_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 (SERPINA4), mRNA.	289					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGAGGGAGATTGAAGAGGTTC	0.468													A	95033524	T	A	95033524	2	1	233	1	0	0	0	0	0	0	0	1	14184	1800	63	5		5	SERPINA4	14	95033524	Silent	SNP	T	TCGA-32-2634-01A-01D-1495-08	70371975	95033524	12316016	45	16164											
MAP1A	4130	broad.mit.edu	37	chr15	43817784	43817784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttttacagcagaaagaCaaaactctggagcacaagga	18	6	10	7	0	1	2	0	0	1	2	1	5	1	4	0	2	4	3	0	2	6	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:43817784C>T	uc001zrt.3	+	3	4580	c.4113C>T	c.(4111-4113)gaC>gaT	p.D1371D		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1371						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGCAGAAAGACAAAACTCTGG	0.453													T	43817784	C	T	43817784	2	4	233	1	0	0	0	0	0	0	0	1	9302	477	17	2		2	MAP1A	15	43817784	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08		43817784	58713608	46	16165											
RNF111	54778	broad.mit.edu	37	chr15	59323149	59323149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttgcatccagagcccaTtggggcagccaaaagttttc	9	11	9	12	0	0	1	0	0	0	1	2	1	1	1	4	2	3	3	4	2	2	5			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr15:59323149T>C	uc002afv.3	+	1	407	c.128T>C	c.(127-129)aTt>aCt	p.I43T	RNF111_uc002afs.3_Missense_Mutation_p.I43T|RNF111_uc002aft.3_Missense_Mutation_p.I43T|RNF111_uc002afu.3_Missense_Mutation_p.I43T|RNF111_uc002afw.3_Missense_Mutation_p.I43T	NM_017610	NP_060080	Q6ZNA4	RN111_HUMAN	Homo sapiens ring finger protein 111 (RNF111), mRNA.	43					multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		CCAGAGCCCATTGGGGCAGCC	0.438													C	59323149	T	C	59323149	3	2	233	1	0	0	0	0	1	0	0	0	13516	1493	52	3	130	3	RNF111	15	59323149	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	15505365	59323149	43208243	47	16166											
TP53	7157	broad.mit.edu	37	chr17	7577520	7577520	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcttccagtgtgatgAtggtgaggatgggcctccgg	6	11	17	7	1	1	3	0	3	1	0	3	5	3	5	3	5	0	0	3	5	0	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:7577520A>C	uc002gim.2	-	6	955	c.761T>G	c.(760-762)aTc>aGc	p.I254S	TP53_uc002gig.1_Missense_Mutation_p.I254S|TP53_uc002gih.3_Missense_Mutation_p.I254S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.I122S|TP53_uc010cnf.1_Missense_Mutation_p.I122S|TP53_uc002gii.1_Missense_Mutation_p.I122S|TP53_uc010cni.1_Missense_Mutation_p.I254S|TP53_uc010cnh.1_Missense_Mutation_p.I254S|TP53_uc002gij.2_Missense_Mutation_p.I254S|DL476366_uc021tpf.1_Non-coding_Transcript|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.I161S|TP53_uc002gio.2_Missense_Mutation_p.I122S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	254	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> D (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|I -> F (in a sporadic cancer; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> M (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I254S(12)|p.L252_I254delLTI(8)|p.0?(8)|p.I254F(7)|p.I254T(6)|p.I254N(6)|p.I254D(6)|p.I254V(5)|p.T253S(5)|p.I254fs*10(5)|p.T253_I255del(4)|p.I254del(4)|p.I251_T253delILT(4)|p.T253I(3)|p.T253A(3)|p.T253fs*11(3)|p.T253P(3)|p.T253N(2)|p.T253T(2)|p.T253fs*91(2)|p.I254fs*7(2)|p.I254_T256del(2)|p.R249_T256delRPILTIIT(2)|p.L252_T253delLT(1)|p.P250_T253delPILT(1)|p.T253fs*92(1)|p.I254I(1)|p.?(1)|p.T253del(1)|p.I254fs*91(1)|p.T253fs*?(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)		CAGTGTGATGATGGTGAGGAT	0.587		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)			C	7577520	A	C	7577520	3	2	233	1	0	0	0	0	1	0	0	0	16482	333	12	5	529	5	TP53	17	7577520	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08		7577520	73617690	48	16167											
DHRS11	79154	broad.mit.edu	37	chr17	34951507	34951507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgttctcagctatccGttctcagcacagcggtgtag	7	12	9	13	2	2	0	2	0	2	0	6	0	4	0	2	1	3	5	2	1	2	4	rs148449399		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr17:34951507G>A	uc002hnd.3	+	1	468	c.254G>A	c.(253-255)cGt>cAt	p.R85H		NM_024308	NP_077284	Q6UWP2	DHR11_HUMAN	Homo sapiens dehydrogenase/reductase (SDR family) member 11 (DHRS11), mRNA.	85						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						TCAGCTATCCGTTCTCAGCAC	0.537													A	34951507	G	A	34951507	3	1	233	1	0	0	0	0	1	0	0	0	4526	1145	40	1	260	1	DHRS11	17	34951507	Missense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08	27373987	34951507	46243703	49	16168											
LAMA3	3909	broad.mit.edu	37	chr18	21511114	21511114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttttaaatctccacagaCgtatatggatggtttactgc	12	15	7	7	1	1	1	0	0	1	1	2	2	1	2	1	2	2	2	1	2	6	7			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:21511114C>T	uc002kuq.3	+	64	8611	c.8525C>T	c.(8524-8526)aCg>aTg	p.T2842M	LAMA3_uc002kur.3_Missense_Mutation_p.T2786M|LAMA3_uc002kus.4_Missense_Mutation_p.T1233M|LAMA3_uc002kut.4_Missense_Mutation_p.T1177M	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	2842	Laminin G-like 3.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCTCCACAGACGTATATGGAT	0.428													T	21511114	C	T	21511114	3	4	233	1	0	0	0	0	1	0	0	0	8666	536	19	1	8958	1	LAMA3	18	21511114	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08		21511114	56566134	50	16169											
DSC3	1825	broad.mit.edu	37	chr18	28604418	28604418	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtagtgggaggggcagAtctgctgaatatccatctgc	9	10	15	7	0	2	2	0	1	2	1	3	3	3	3	1	4	2	3	1	4	3	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr18:28604418A>T	uc002kwj.4	-	5	827	c.672T>A	c.(670-672)gaT>gaA	p.D224E	DSC3_uc002kwi.4_Missense_Mutation_p.D224E	NM_001941	NP_001932	Q14574	DSC3_HUMAN	Homo sapiens desmocollin 3 (DSC3), transcript variant Dsc3a, mRNA.	224	Cadherin 1.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			GGAGGGGCAGATCTGCTGAAT	0.398													T	28604418	A	T	28604418	3	4	233	1	0	0	0	0	1	0	0	0	4806	330	12	5	2093	5	DSC3	18	28604418	Missense_Mutation	SNP	A	TCGA-32-2634-01A-01D-1495-08	7093304	28604418	49472830	51	16170											
ANKRD24	170961	broad.mit.edu	37	chr19	4207777	4207777	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagccccctcccctggtaGgacggccctgatgctggcct	5	8	12	16	1	0	1	0	1	0	0	1	2	1	2	6	4	2	3	6	4	2	2			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:4207777G>A	uc010dtt.1	+	10	921	c.645_splice	c.e10-1	p.R215_splice	ANKRD24_uc002lzs.2_Splice_Site_p.R186_splice|ANKRD24_uc002lzt.2_Splice_Site_p.R187_splice	NM_133475	NP_597732	Q8TF21	ANR24_HUMAN	Homo sapiens ankyrin repeat domain 24 (ANKRD24), mRNA.	215										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)		TCCCCTGGTAGGACGGCCCTG	0.682											OREG0025162	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4207777	G	A	4207777	5	1	233	1	0	0	0	0	0	0	1	0	653	1014	35	2	678	2	ANKRD24	19	4207777	Splice_Site	SNP	G	TCGA-32-2634-01A-01D-1495-08		4207777	54921206	52	16171											
CACNA1A	773	broad.mit.edu	37	chr19	13355996	13355996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagctggagggagacttacCccaaactcagtcacgaggat	13	6	12	10	1	2	1	2	0	0	1	2	6	2	3	2	3	3	1	2	3	3	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:13355996C>T	uc002mwy.3	-	31	5186	c.4950_splice	c.e31+1	p.G1650_splice	CACNA1A_uc002mwx.3_Splice_Site_p.G356_splice|CACNA1A_uc010dzc.2_Splice_Site_p.G1176_splice|CACNA1A_uc010xnd.2_Splice_Site_p.G1653_splice|CACNA1A_uc021ups.1_Splice_Site_p.G1650_splice|CACNA1A_uc010xne.2_Splice_Site_p.G1653_splice|CACNA1A_uc010dze.2_Splice_Site_p.G1650_splice|CACNA1A_uc021upt.1_Splice_Site_p.G1651_splice|CACNA1A_uc002mwv.3_Splice_Site_p.G167_splice	NM_001127222	NP_001120694	O00555	CAC1A_HUMAN	Homo sapiens calcium channel, voltage-dependent, P/Q type, alpha 1A subunit (CACNA1A), transcript variant 4, mRNA.	1651					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	GGAGACTTACCCCAAACTCAG	0.597													T	13355996	C	T	13355996	2	4	233	1	0	0	0	0	0	0	0	1	2564	637	22	2		2	CACNA1A	19	13355996	Silent	SNP	C	TCGA-32-2634-01A-01D-1495-08	9148219	13355996	45772987	53	16172											
ATP4A	495	broad.mit.edu	37	chr19	36051416	36051416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccaggatgcggatgtcGgcgggcactctgtccccacc	5	6	14	16	4	1	0	0	0	1	0	3	2	2	2	5	4	1	1	5	4	0	0	rs149880813		TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:36051416G>A	uc002oal.1	-	5	665	c.636C>T	c.(634-636)gcC>gcT	p.A212A	ATP4A_uc010eee.1_5'Flank	NM_000704	NP_000695	P20648	ATP4A_HUMAN	Homo sapiens ATPase, H+/K+ exchanging, alpha polypeptide (ATP4A), mRNA.	212					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGCGGATGTCGGCGGGCACTC	0.622													A	36051416	G	A	36051416	2	1	233	1	0	0	0	0	0	0	0	1	1150	1103	39	1		1	ATP4A	19	36051416	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08	22695420	36051416	23077567	54	16173											
EPS8L1	54869	broad.mit.edu	37	chr19	55593671	55593671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcggcaacatcgccgaccCctcctctccggagctgttgc	5	7	11	18	5	1	0	0	0	1	0	4	2	2	1	5	2	3	3	5	2	1	1			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:55593671C>T	uc002qis.4	+	10	1123	c.1019C>T	c.(1018-1020)cCc>cTc	p.P340L	EPS8L1_uc010ess.1_Missense_Mutation_p.P322L|EPS8L1_uc010est.1_Missense_Mutation_p.P340L|EPS8L1_uc010yfr.2_Missense_Mutation_p.P276L|EPS8L1_uc010esu.1_Non-coding_Transcript|EPS8L1_uc002qiu.3_Missense_Mutation_p.P213L|EPS8L1_uc002qiv.3_5'UTR|EPS8L1_uc002qiw.3_Missense_Mutation_p.P87L	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	340						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		ATCGCCGACCCCTCCTCTCCG	0.731													T	55593671	C	T	55593671	3	4	233	1	0	0	0	0	1	0	0	0	5236	623	22	2	1109	2	EPS8L1	19	55593671	Missense_Mutation	SNP	C	TCGA-32-2634-01A-01D-1495-08	19542255	55593671	3535312	55	16174											
ZFP28	140612	broad.mit.edu	37	chr19	57066095	57066095	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagaagccctatgaatgTaaggtttgtagtaaagcgtt	13	11	13	4	1	0	2	0	1	0	1	0	4	0	3	1	2	2	5	1	2	7	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr19:57066095T>G	uc002qnj.3	+	7	2012	c.1941T>G	c.(1939-1941)tgT>tgG	p.C647W	BX647249_uc002qnk.1_Intron	NM_020828	NP_065879	Q8NHY6	ZFP28_HUMAN	Homo sapiens zinc finger protein 28 homolog (mouse) (ZFP28), mRNA.	647					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		CCTATGAATGTAAGGTTTGTA	0.458													G	57066095	T	G	57066095	3	3	233	1	0	0	0	0	1	0	0	0	17743	1644	57	5	1971	5	ZFP28	19	57066095	Missense_Mutation	SNP	T	TCGA-32-2634-01A-01D-1495-08	1472424	57066095	2062888	56	16175											
NSFL1C	55968	broad.mit.edu	37	chr20	1424444	1424444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggttggcttccttcaGggtctggctctcatcagcca	6	11	12	12	0	4	0	3	0	2	0	6	1	5	0	2	4	2	4	2	4	0	3			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chr20:1424444G>A	uc002wfc.3	-	8	1931	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	NSFL1C_uc021vzq.1_Silent_p.L241L|NSFL1C_uc002wfe.3_Silent_p.L324L	NM_016143	NP_057227	Q9UNZ2	NSF1C_HUMAN	Homo sapiens NSFL1 (p97) cofactor (p47) (NSFL1C), transcript variant 1, mRNA.	355	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GCTTCCTTCAGGGTCTGGCTC	0.582													A	1424444	G	A	1424444	2	1	233	1	0	0	0	0	0	0	0	1	10748	991	35	2		2	NSFL1C	20	1424444	Silent	SNP	G	TCGA-32-2634-01A-01D-1495-08		1424444	61601076	57	16176											
SLC6A14	11254	broad.mit.edu	37	chrX	115573956	115573956	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgcttcttttcaaagtGaactaccatggaaaaattgt	12	16	7	6	0	2	1	1	1	1	0	2	2	2	2	1	1	3	2	1	1	5	6			TCGA-32-2634-01A-01D-1495-08	TCGA-32-2634-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b2a114-4f8c-4e02-af9d-24c4a05d4ca0	9157adef-f3b4-43a8-bf98-ee22bfc4631f	g.chrX:115573956G>T	uc004eqi.3	+	3	579	c.448G>T	c.(448-450)Gaa>Taa	p.E150*	SLC6A14_uc011mtm.2_Splice_Site	NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	150					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TTTTCAAAGTGAACTACCATG	0.323													T	115573956	G	T	115573956	4	4	233	1	0	0	0	0	0	1	0	0	14771	1291	45	4	462	4	SLC6A14	23	115573956	Nonsense_Mutation	SNP	G	TCGA-32-2634-01A-01D-1495-08		115573956	39696604	58	16177											
UBE2U	148581	broad.mit.edu	37	chr1	64707415	64707418	+	Splice_Site	DEL	AAGT	AAGT	-																															atcagaaagaatggaatttaAagtaagaaatatgaagtgcc																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:64707415_64707418delAAGT	uc001dbn.1	+	8	921	c.677_splice	c.e8+1	p.K226_splice		NM_152489	NP_689702	Q5VVX9	UBE2U_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2U (putative) (UBE2U), mRNA.	226							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						ATGGAATTTAAAGTAAGAAATATG	0.304													-	64707418	AAGT	-	64707415	8	5	234	1	0	1	0	1	0	0	1	0	16976	28	1	0	706	0	UBE2U	1	64707415	Splice_Site	DEL	AAGT	TCGA-32-2638-01A-01D-1495-08		64707415	184543206	1	16178											
AMPD1	270	broad.mit.edu	37	chr1	115221096	115221096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaagatttcttaataaaaCgcagcagatgtttctggttc	12	14	9	6	1	2	2	0	0	2	2	3	2	2	2	0	2	2	5	0	2	4	6	rs142123340	by1000genomes	TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:115221096C>T	uc001efe.2	-	7	1097	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	AMPD1_uc001eff.2_Missense_Mutation_p.R346H	NM_000036	NP_000027	P23109	AMPD1_HUMAN	Homo sapiens adenosine monophosphate deaminase 1 (AMPD1), transcript variant 1, mRNA.	317					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	CTTAATAAAACGCAGCAGATG	0.368													T	115221096	C	T	115221096	3	4	234	1	0	0	0	0	1	0	0	0	585	536	19	1	1329	1	AMPD1	1	115221096	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	50513681	115221096	134029525	2	16179											
ASH1L	55870	broad.mit.edu	37	chr1	155449241	155449241	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcatactgccctgtctGgagtgtaaatgcaaatatgg	12	12	10	7	0	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	6	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:155449241G>C	uc009wqq.3	-	2	3900	c.3420C>G	c.(3418-3420)tcC>tcG	p.S1140S	ASH1L_uc001fkt.3_Silent_p.S1140S|ASH1L_uc009wqr.1_Silent_p.S1140S	NM_018489	NP_060959	Q9NR48	ASH1L_HUMAN	Homo sapiens ash1 (absent, small, or homeotic)-like (Drosophila) (ASH1L), mRNA.	1140					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TGCCCTGTCTGGAGTGTAAAT	0.478													C	155449241	G	C	155449241	2	2	234	1	0	0	0	0	0	0	0	1	1046	1335	47	4		4	ASH1L	1	155449241	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	40228145	155449241	93801380	3	16180											
SEC16B	89866	broad.mit.edu	37	chr1	177937026	177937026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacaggccgatgatgtcCatctctccgaaaccctcggt	9	8	11	13	3	1	1	0	1	1	0	5	4	3	2	4	3	1	0	4	3	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:177937026C>T	uc001glj.1	-	6	957	c.91G>A	c.(91-93)Gga>Aga	p.G31R	SEC16B_uc001glk.1_5'UTR|SEC16B_uc001gli.1_Missense_Mutation_p.G31R|SEC16B_uc009wwz.1_5'UTR|SEC16B_uc001gll.4_Missense_Mutation_p.G31R	NM_033127	NP_149118	Q96JE7	SC16B_HUMAN	Homo sapiens SEC16 homolog B (S. cerevisiae) (SEC16B), mRNA.	31					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CGATGATGTCCATCTCTCCGA	0.602													T	177937026	C	T	177937026	3	4	234	1	0	0	0	0	1	0	0	0	14080	603	21	2	3191	2	SEC16B	1	177937026	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	22487785	177937026	71313595	4	16181											
USH2A	7399	broad.mit.edu	37	chr1	216595556	216595556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttgaaagctcccacgttCtccagccttgggaaaagacc	10	10	8	13	1	2	2	0	1	2	1	4	3	3	3	4	1	2	2	4	1	3	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:216595556C>T	uc001hku.1	-	1	510	c.123G>A	c.(121-123)gaG>gaA	p.E41E	USH2A_uc001hkv.3_Silent_p.E41E	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	41					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)		CTCCCACGTTCTCCAGCCTTG	0.473										HNSCC(13;0.011)			T	216595556	C	T	216595556	2	4	234	1	0	0	0	0	0	0	0	1	17138	912	32	2		2	USH2A	1	216595556	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	38658530	216595556	32655065	5	16182											
OBSCN	84033	broad.mit.edu	37	chr1	228564891	228564891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagggcctgcgccacccGcacctggcccagctgcacgc	6	4	11	20	3	1	0	1	0	0	0	1	0	1	0	5	2	3	3	5	2	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:228564891G>A	uc009xez.1	+	100	23222	c.23178G>A	c.(23176-23178)ccG>ccA	p.P7726P	OBSCN_uc001hsr.1_Silent_p.P2355P	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7726	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCGCCACCCGCACCTGGCCC	0.697													A	228564891	G	A	228564891	2	1	234	1	0	0	0	0	0	0	0	1	10888	1074	38	1		1	OBSCN	1	228564891	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	11969335	228564891	20685730	6	16183											
ZP4	57829	broad.mit.edu	37	chr1	238048807	238048807	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaggatggagacctcCacgtaaatgggatcccgaag	12	7	13	9	2	0	2	0	1	0	1	2	6	2	4	3	3	0	1	3	3	4	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr1:238048807C>G	uc001hym.3	-	7	1331	c.1044G>C	c.(1042-1044)gtG>gtC	p.V348V	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	348	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGGAGACCTCCACGTAAATGG	0.522													G	238048807	C	G	238048807	2	3	234	1	0	0	0	0	0	0	0	1	18317	581	21	4		4	ZP4	1	238048807	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	9483916	238048807	11201814	7	16184											
DTNB	1838	broad.mit.edu	37	chr2	25674485	25674485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgttcctcatccagtcGgctaggactgtccagaacac	9	9	10	13	2	1	1	1	0	0	1	5	2	4	2	3	3	1	2	3	3	2	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:25674485G>A	uc002rgh.3	-	11	1439	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	DTNB_uc002rgg.3_Nonsense_Mutation_p.R26*|DTNB_uc010yko.2_Nonsense_Mutation_p.R340*|DTNB_uc002rgi.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgj.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgk.3_Nonsense_Mutation_p.R367*|DTNB_uc002rgl.3_Nonsense_Mutation_p.R367*|DTNB_uc002rgq.3_Nonsense_Mutation_p.R397*|DTNB_uc002rgn.3_Nonsense_Mutation_p.R193*|DTNB_uc010ykp.2_Nonsense_Mutation_p.R193*|DTNB_uc002rgr.1_Nonsense_Mutation_p.R386*|DTNB_uc010ykq.1_Nonsense_Mutation_p.R250*	NM_021907	NP_068707	O60941	DTNB_HUMAN	Homo sapiens dystrobrevin, beta (DTNB), transcript variant 1, mRNA.	397						cytoplasm	calcium ion binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCATCCAGTCGGCTAGGACTG	0.468													A	25674485	G	A	25674485	4	1	234	1	0	0	0	0	0	1	0	0	4828	1124	39	1	730	1	DTNB	2	25674485	Nonsense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		25674485	217524888	8	16185											
DUSP11	8446	broad.mit.edu	37	chr2	74007043	74007043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcttcttggctgaggagCgtcctgaaaagtcgcgtctc	6	12	11	12	3	3	2	0	2	3	0	6	3	4	3	2	2	1	1	2	2	2	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:74007043C>A	uc002sjp.3	-	0	242	c.200G>T	c.(199-201)cGc>cTc	p.R67L	DUSP11_uc002sjq.4_Missense_Mutation_p.R67L	NM_003584	NP_003575	O75319	DUS11_HUMAN	Homo sapiens dual specificity phosphatase 11 (RNA/RNP complex 1-interacting) (DUSP11), mRNA.	20					RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						GGCTGAGGAGCGTCCTGAAAA	0.617											OREG0014714	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74007043	C	A	74007043	3	1	234	1	0	0	0	0	1	0	0	0	4850	768	27	4	969	4	DUSP11	2	74007043	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	48332558	74007043	169192330	9	16186											
MAP4K4	9448	broad.mit.edu	37	chr2	102483026	102483026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagagtggctccggggaaCgcttcagagtgagatgtaag	10	8	15	8	2	2	3	2	1	0	3	3	5	3	4	1	3	1	3	1	3	2	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:102483026C>T	uc002tbc.3	+	18	2719	c.2341C>T	c.(2341-2343)Cgc>Tgc	p.R781C	MAP4K4_uc002tbf.3_Missense_Mutation_p.R673C|MAP4K4_uc002tbd.3_Missense_Mutation_p.R673C|MAP4K4_uc010yvy.2_Missense_Mutation_p.R696C|MAP4K4_uc002tbh.3_Missense_Mutation_p.R618C|MAP4K4_uc002tbg.3_Missense_Mutation_p.R703C|MAP4K4_uc002tbi.3_Missense_Mutation_p.R503C|MAP4K4_uc010yvz.2_Missense_Mutation_p.R676C|MAP4K4_uc002tbk.3_Missense_Mutation_p.R158C|MAP4K4_uc021vlq.1_5'UTR|MAP4K4_uc002tbl.3_5'UTR	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	703					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCGGGGAACGCTTCAGAGT	0.532													T	102483026	C	T	102483026	3	4	234	1	0	0	0	0	1	0	0	0	9337	536	19	1	2415	1	MAP4K4	2	102483026	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	28475983	102483026	140716347	10	16187											
RCAN2	51776	broad.mit.edu	37	chr2	174131422	174131422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccacaggccatctcccGccaaaaccaataaagagaga	16	3	7	15	1	1	2	0	0	1	2	2	3	1	2	6	1	2	0	6	1	5	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:174131422G>A	uc002uhz.3	+	19	2547	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	MLK7-AS1_uc002uib.3_Intron	NM_016653	NP_057737	Q14206	RCAN2_HUMAN	Homo sapiens sterile alpha motif and leucine zipper containing kinase AZK (ZAK), transcript variant 1, mRNA.	0					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding	p.A783S(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCCATCTCCCGCCAAAACCAA	0.473													A	174131422	G	A	174131422	3	1	234	1	0	0	0	0	1	0	0	0	13257	1087	38	1		1	RCAN2	2	174131422	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	71648396	174131422	69067951	11	16188											
MYO1B	4430	broad.mit.edu	37	chr2	192261188	192261188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcagacaaagagttccGccttagtaattcagtcttat	13	11	7	10	1	2	2	1	0	1	2	3	2	3	2	3	0	1	3	3	0	4	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr2:192261188G>A	uc010fsg.2	+	20	2515	c.2260G>A	c.(2260-2262)Gcc>Acc	p.A754T	MYO1B_uc002usq.2_Missense_Mutation_p.A754T|MYO1B_uc002usr.2_Missense_Mutation_p.A754T|MYO1B_uc002usu.2_Missense_Mutation_p.A28T	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	754	IQ 3.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.S753S(1)		NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AAAGAGTTCCGCCTTAGTAAT	0.373													A	192261188	G	A	192261188	3	1	234	1	0	0	0	0	1	0	0	0	10145	1087	38	1	2338	1	MYO1B	2	192261188	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	18129766	192261188	50938185	12	16189											
ZNF385D	79750	broad.mit.edu	37	chr3	21792472	21792472	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcacccaaggctggcacGtagagcagagccctttcatg	9	8	10	14	1	2	2	2	0	1	2	3	2	2	2	2	2	2	4	2	2	2	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:21792472G>A	uc003cce.3	-	0					ZNF385D_uc010hfb.1_Intron	NM_024697	NP_078973	Q9H6B1	Z385D_HUMAN	Homo sapiens zinc finger protein 385D (ZNF385D), mRNA.							nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						AGGCTGGCACGTAGAGCAGAG	0.557													A	21792472	G	A	21792472	1	1	234	1	0	0	0	0	0	0	0	0	17979	1160	40	1		1	ZNF385D	3	21792472	Translation_Start_Site	SNP	G	TCGA-32-2638-01A-01D-1495-08		21792472	176229958	13	16190											
SUCLG2	8801	broad.mit.edu	37	chr3	67570993	67570993	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagcacggggccattgcaGgaccggtccatcagaattgc	10	6	12	13	2	1	1	1	0	0	1	2	2	2	2	4	4	3	2	4	4	1	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:67570993G>C	uc021xae.1	-	4	511	c.483C>G	c.(481-483)tcC>tcG	p.S161S	SUCLG2_uc010hob.3_Silent_p.S42S|SUCLG2_uc003dna.4_Silent_p.S161S	NM_001177599	NP_001171070	Q96I99	SUCB2_HUMAN	Homo sapiens succinate-CoA ligase, GDP-forming, beta subunit (SUCLG2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	161	ATP-grasp.				succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	GGCCATTGCAGGACCGGTCCA	0.502													C	67570993	G	C	67570993	2	2	234	1	0	0	0	0	0	0	0	1	15461	987	35	4		4	SUCLG2	3	67570993	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	45778521	67570993	130451437	14	16191											
IFT122	55764	broad.mit.edu	37	chr3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagttccatgaggccGccaaactgtacaagaggagt	13	6	14	8	1	0	2	0	1	0	1	1	4	1	4	3	4	2	2	3	4	4	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:129214370G>A	uc003eml.3	+	18	2487	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	IFT122_uc003emm.3_Missense_Mutation_p.A710T|IFT122_uc003emn.3_Missense_Mutation_p.A651T|IFT122_uc003emo.3_Missense_Mutation_p.A599T|IFT122_uc003emp.3_Missense_Mutation_p.A560T|IFT122_uc010htc.3_Missense_Mutation_p.A702T|IFT122_uc011bky.2_Missense_Mutation_p.A501T|IFT122_uc011bla.2_Missense_Mutation_p.A483T|IFT122_uc003emr.3_Missense_Mutation_p.A462T|IFT122_uc010hte.3_Intron|IFT122_uc003ems.3_Missense_Mutation_p.A91T|IFT122_uc011bkx.1_Missense_Mutation_p.A550T|IFT122_uc010htd.1_Missense_Mutation_p.A189T	NM_052985	NP_443711	Q9HBG6	IF122_HUMAN	Homo sapiens intraflagellar transport 122 homolog (Chlamydomonas) (IFT122), transcript variant 1, mRNA.	710					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512													A	129214370	G	A	129214370	3	1	234	1	0	0	0	0	1	0	0	0	7613	1087	38	1	2355	1	IFT122	3	129214370	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	61643377	129214370	68808060	15	16192											
GRK7	131890	broad.mit.edu	37	chr3	141497201	141497201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccggaagccctcggactgCgacagcaaagagctgcagcg	10	3	14	14	4	0	1	0	0	0	1	1	4	0	3	2	2	6	3	2	2	2	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:141497201C>T	uc011bnd.2	+	0	159	c.75C>T	c.(73-75)tgC>tgT	p.C25C		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	25					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						CCTCGGACTGCGACAGCAAAG	0.701													T	141497201	C	T	141497201	2	4	234	1	0	0	0	0	0	0	0	1	6849	776	27	1		1	GRK7	3	141497201	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	12282831	141497201	56525229	16	16193											
TM4SF1	4071	broad.mit.edu	37	chr3	149093335	149093335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caatgacacagtagccagatCctgcaattccaatgagagca	15	7	8	11	0	0	3	0	2	0	2	2	4	2	3	3	0	3	3	3	0	4	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr3:149093335C>G	uc003exb.1	-	2	542	c.308G>C	c.(307-309)gGa>gCa	p.G103A	TM4SF1_uc003exc.1_Missense_Mutation_p.G14A	NM_014220	NP_055035	P30408	T4S1_HUMAN	Homo sapiens transmembrane 4 L six family member 1 (TM4SF1), mRNA.	103						integral to plasma membrane				endometrium(3)|large_intestine(1)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			GTAGCCAGATCCTGCAATTCC	0.507													G	149093335	C	G	149093335	3	3	234	1	0	0	0	0	1	0	0	0	16066	855	30	4	312	4	TM4SF1	3	149093335	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	7596134	149093335	48929095	17	16194											
ADAMTS3	9508	broad.mit.edu	37	chr4	73184402	73184402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatgatcaaaagggtcatCaaggagacagtcataggaac	17	7	10	7	0	5	2	5	1	0	1	5	4	5	3	0	3	1	0	0	3	5	1	rs80237783		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:73184402C>G	uc003hgk.2	-	9	1409	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H		NM_014243	NP_055058	O15072	ATS3_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 3 (ADAMTS3), mRNA.	458	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAAGGGTCATCAAGGAGACAG	0.343													G	73184402	C	G	73184402	3	3	234	1	0	0	0	0	1	0	0	0	267	826	29	4	2297	4	ADAMTS3	4	73184402	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		73184402	117969874	18	16195											
MRPL1	65008	broad.mit.edu	37	chr4	78804480	78804480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaataaaagcatatccCtatatggaaggcgaacctga	19	7	8	7	1	0	1	0	1	0	0	1	4	1	2	2	2	2	1	2	2	10	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:78804480C>T	uc003hku.2	+	2	426	c.228C>T	c.(226-228)ccC>ccT	p.P76P		NM_020236	NP_064621	Q9BYD6	RM01_HUMAN	Homo sapiens mitochondrial ribosomal protein L1 (MRPL1), nuclear gene encoding mitochondrial protein, mRNA.	76							RNA binding	p.P76P(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						AAGCATATCCCTATATGGAAG	0.323													T	78804480	C	T	78804480	2	4	234	1	0	0	0	0	0	0	0	1	9850	668	24	2		2	MRPL1	4	78804480	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	5620078	78804480	112349796	19	16196											
UNC5C	8633	broad.mit.edu	37	chr4	96090460	96090460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagacagctgccagcatGctcaggtttccatctgggaa	10	9	10	12	0	2	1	1	0	1	1	4	2	4	2	3	2	4	4	3	2	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:96090460G>A	uc003hto.3	-	15	3074	c.2721C>T	c.(2719-2721)agC>agT	p.S907S		NM_003728	NP_003719	O95185	UNC5C_HUMAN	Homo sapiens unc-5 homolog C (C. elegans) (UNC5C), mRNA.	907	Death.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CTGCCAGCATGCTCAGGTTTC	0.483													A	96090460	G	A	96090460	2	1	234	1	0	0	0	0	0	0	0	1	17095	1310	46	2		2	UNC5C	4	96090460	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	17285980	96090460	95063816	20	16197											
NAF1	92345	broad.mit.edu	37	chr4	164054388	164054388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttccttctctttttcAtcatcactaaaatctaaggc	9	17	4	11	0	5	0	3	0	2	0	7	0	6	0	1	2	0	1	1	2	3	7			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:164054388A>G	uc003iqj.3	-	6	1145	c.951T>C	c.(949-951)gaT>gaC	p.D317D	NAF1_uc010iqw.1_Silent_p.D317D	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	317					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCTCTTTTTCATCATCACTAA	0.333													G	164054388	A	G	164054388	2	3	234	1	0	0	0	0	0	0	0	1	10216	214	8	3		3	NAF1	4	164054388	Silent	SNP	A	TCGA-32-2638-01A-01D-1495-08	67963928	164054388	27099888	21	16198											
ODZ3	55714	broad.mit.edu	37	chr4	183574978	183574978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagactgaaaatgacacatTtgagaatggaaaagtgaatt	18	9	10	4	0	0	5	0	4	0	2	0	7	0	6	0	1	0	1	0	1	6	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr4:183574978T>C	uc003ivd.1	+	4	1118	c.1043T>C	c.(1042-1044)tTt>tCt	p.F348S		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	348					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		AATGACACATTTGAGAATGGA	0.418													C	183574978	T	C	183574978	3	2	234	1	0	0	0	0	1	0	0	0	10912	1841	64	3	1061	3	ODZ3	4	183574978	Missense_Mutation	SNP	T	TCGA-32-2638-01A-01D-1495-08	19520590	183574978	7579298	22	16199											
SH3RF2	153769	broad.mit.edu	37	chr5	145393517	145393517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccattctccttcagggCgccatatggtagagatcagc	8	11	11	11	1	3	1	2	0	1	1	5	2	4	1	3	3	1	1	3	3	2	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr5:145393517C>T	uc003lnt.3	+	4	1190	c.952C>T	c.(952-954)Cgc>Tgc	p.R318C	SH3RF2_uc011dbl.1_Missense_Mutation_p.R318C	NM_152550	NP_689763	Q8TEC5	SH3R2_HUMAN	Homo sapiens SH3 domain containing ring finger 2 (SH3RF2), mRNA.	318							ligase activity|protein phosphatase 1 binding|zinc ion binding	p.R318C(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCTTCAGGGCGCCATATGGT	0.577													T	145393517	C	T	145393517	3	4	234	1	0	0	0	0	1	0	0	0	14353	768	27	1	966	1	SH3RF2	5	145393517	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		145393517	35521743	23	16200											
FRK	2444	broad.mit.edu	37	chr6	116265439	116265439	+	Frame_Shift_Del	DEL	C	C	-																															ggcaagtccaaaatctgctaCtttgtagatattatgttcac																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:116265439delC	uc003pwi.1	-	5	1555	c.1108delG	c.(1108-1110)gtafs	p.V370fs		NM_002031	NP_002022	P42685	FRK_HUMAN	Homo sapiens fyn-related kinase (FRK), mRNA.	370	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAATCTGCTACTTTGTAGATA	0.388													-	116265439	C	-	116265439	7	5	234	1	0	1	0	1	0	0	0	0	6100	565	20	0	421	0	FRK	6	116265439	Frame_Shift_Del	DEL	C	TCGA-32-2638-01A-01D-1495-08		116265439	54849628	24	16201											
NKAIN2	154215	broad.mit.edu	37	chr6	124979424	124979424	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtgacgtcagtgacaccTgccccagactgggccccaga	9	5	12	15	2	1	4	1	2	0	2	1	4	1	4	5	2	1	0	5	2	0	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:124979424T>A	uc003pzo.3	+	3	643	c.366T>A	c.(364-366)ccT>ccA	p.P122P	NKAIN2_uc003pzn.1_Silent_p.P122P|NKAIN2_uc010keq.3_Intron|NKAIN2_uc003pzp.3_Silent_p.P121P|NKAIN2_uc010ker.3_Silent_p.P32P	NM_001040214	NP_001035304	Q5VXU1	NKAI2_HUMAN	Homo sapiens Na+/K+ transporting ATPase interacting 2 (NKAIN2), transcript variant 1, mRNA.	122						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		CAGTGACACCTGCCCCAGACT	0.502													A	124979424	T	A	124979424	2	1	234	1	0	0	0	0	0	0	0	1	10512	1567	55	5		5	NKAIN2	6	124979424	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	8713985	124979424	46135643	25	16202											
NOX3	50508	broad.mit.edu	37	chr6	155743923	155743923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactccgatccccgcggcaaCgcacacacacactgggtagt	10	5	10	16	4	0	0	0	0	0	0	2	2	2	0	3	2	1	3	3	2	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:155743923C>T	uc003qqm.3	-	9	1316	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I		NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN	Homo sapiens NADPH oxidase 3 (NOX3), mRNA.	405							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CCCGCGGCAACGCACACACAC	0.537													T	155743923	C	T	155743923	3	4	234	1	0	0	0	0	1	0	0	0	10633	536	19	1	509	1	NOX3	6	155743923	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	30764499	155743923	15371144	26	16203											
PLG	5340	broad.mit.edu	37	chr6	161134138	161134138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagagatatgactactgCgacattcttgagtgtgaagg	14	10	12	5	1	1	4	0	3	1	1	1	7	1	4	0	1	2	0	0	1	5	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr6:161134138C>T	uc003qtm.4	+	4	640	c.528C>T	c.(526-528)tgC>tgT	p.C176C		NM_000301	NP_000292	P00747	PLMN_HUMAN	Homo sapiens plasminogen (PLG), transcript variant 1, mRNA.	176	Kringle 1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ATGACTACTGCGACATTCTTG	0.473													T	161134138	C	T	161134138	2	4	234	1	0	0	0	0	0	0	0	1	12163	776	27	1		1	PLG	6	161134138	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	5390215	161134138	9980929	27	16204											
NPC1L1	29881	broad.mit.edu	37	chr7	44560418	44560418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtatgctgccaggcCgctgcaagaaggtcagggca	8	7	16	10	1	1	1	1	0	0	1	1	1	1	1	2	4	4	6	2	4	3	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:44560418C>T	uc003tlb.3	-	14	3137	c.3081_splice	c.e14-1	p.G1027_splice	NPC1L1_uc011kbw.2_Splice_Site_p.G981_splice|NPC1L1_uc003tlc.3_Splice_Site_p.G1027_splice|NPC1L1_uc003tla.3_Splice_Site_p.G30_splice	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	1027					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCCAGGCCGCTGCAAGAA	0.572													T	44560418	C	T	44560418	3	4	234	1	0	0	0	0	1	0	0	0	10647	666	23	1	1025	1	NPC1L1	7	44560418	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		44560418	114578245	28	16205											
CACNA2D1	781	broad.mit.edu	37	chr7	81594957	81594957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcagaagaaacccaccatCatccagaatcacacaatcca	18	5	3	15	0	3	3	3	0	0	3	5	3	5	3	4	0	1	0	4	0	4	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:81594957C>T	uc003uhr.1	-	31	2783	c.2527G>A	c.(2527-2529)Gat>Aat	p.D843N	CACNA2D1_uc011kgy.1_Missense_Mutation_p.D55N	NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	855						voltage-gated calcium channel complex	metal ion binding	p.D843N(2)		breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	AACCCACCATCATCCAGAATC	0.368													T	81594957	C	T	81594957	3	4	234	1	0	0	0	0	1	0	0	0	2574	826	29	2	780	2	CACNA2D1	7	81594957	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	37034539	81594957	77543706	29	16206											
ZNF804B	219578	broad.mit.edu	37	chr7	88965893	88965893	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccgtacagacagttccAgttcaccagcacacttctat	12	10	5	14	1	3	1	2	0	1	1	4	1	4	1	3	0	3	4	3	0	3	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:88965893A>G	uc011khi.2	+	3	4135	c.3597A>G	c.(3595-3597)ccA>ccG	p.P1199P		NM_181646	NP_857597	A4D1E1	Z804B_HUMAN	Homo sapiens zinc finger protein 804B (ZNF804B), mRNA.	1199						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			AGACAGTTCCAGTTCACCAGC	0.502										HNSCC(36;0.09)			G	88965893	A	G	88965893	2	3	234	1	0	0	0	0	0	0	0	1	18270	175	7	3		3	ZNF804B	7	88965893	Silent	SNP	A	TCGA-32-2638-01A-01D-1495-08	7370936	88965893	70172770	30	16207											
MUC17	140453	broad.mit.edu	37	chr7	100680859	100680859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtatgcctgtcagcactacGcttgtggtcagttctgaggg	6	12	14	9	1	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:100680859G>A	uc003uxp.1	+	2	6215	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2054	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)					TCAGCACTACGCTTGTGGTCA	0.493													A	100680859	G	A	100680859	2	1	234	1	0	0	0	0	0	0	0	1	10050	1074	38	1		1	MUC17	7	100680859	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	11714966	100680859	58457804	31	16208											
TFEC	22797	broad.mit.edu	37	chr7	115590932	115590932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgattgttgaactcacggatCattagactttggaataagag	13	13	10	5	1	2	4	2	2	0	2	2	6	2	6	0	2	1	1	0	2	4	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr7:115590932C>T	uc003vhj.2	-	5	764	c.511G>A	c.(511-513)Gat>Aat	p.D171N	TFEC_uc003vhm.2_Missense_Mutation_p.D104N|TFEC_uc003vhk.2_Missense_Mutation_p.D142N|TFEC_uc003vhl.4_Missense_Mutation_p.D142N|TFEC_uc011kmw.2_Missense_Mutation_p.D261N	NM_012252	NP_036384	O14948	TFEC_HUMAN	Homo sapiens transcription factor EC (TFEC), transcript variant 1, mRNA.	171	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			ACTCACGGATCATTAGACTTT	0.323													T	115590932	C	T	115590932	3	4	234	1	0	0	0	0	1	0	0	0	15902	826	29	2	544	2	TFEC	7	115590932	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	14910073	115590932	43547731	32	16209											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	7	3	14	17	5	0	1	0	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:21971029C>T	uc003zpk.3	-	1	635	c.329G>A	c.(328-330)tGg>tAg	p.W110*	MTAP_uc003zpi.1_Intron|CDKN2A_uc003zpj.3_3'UTR|CDKN2A_uc010miu.3_Nonsense_Mutation_p.W110*|CDKN2A_uc003zpl.3_Silent_p.L124L	NM_000077	NP_000068	P42771	CD2A1_HUMAN	Homo sapiens cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4) (CDKN2A), transcript variant 1, mRNA.	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.W110*(58)|p.?(44)|p.L165L(2)|p.A109V(2)|p.H83fs*2(2)|p.W110fs*9(1)|p.D105fs*8(1)|p.A109T(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)|p.A109A(1)|p.W110fs*36(1)|p.W110C(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971029	C	T	21971029	4	4	234	1	0	0	0	0	0	1	0	0	3191	595	21	2	149	2	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		21971029	119242402	33	16210											
IKBKAP	8518	broad.mit.edu	37	chr9	111659518	111659518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccctggacaggtagacaCtgctggtaactggtgcaggg	9	8	15	9	0	0	1	0	0	0	1	1	3	1	2	1	5	3	4	1	5	2	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:111659518C>A	uc004bdm.4	-	22	2931	c.2411G>T	c.(2410-2412)aGt>aTt	p.S804I	IKBKAP_uc004bdl.3_Missense_Mutation_p.S455I|IKBKAP_uc011lwc.2_Missense_Mutation_p.S690I|IKBKAP_uc010mtq.3_Missense_Mutation_p.S455I	NM_003640	NP_003631	O95163	ELP1_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein (IKBKAP), mRNA.	804					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						CAGGTAGACACTGCTGGTAAC	0.463													A	111659518	C	A	111659518	3	1	234	1	0	0	0	0	1	0	0	0	7668	565	20	4	1647	4	IKBKAP	9	111659518	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	89688489	111659518	29553913	34	16211											
EHMT1	79813	broad.mit.edu	37	chr9	140638536	140638536	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcggaggctgatcgcgcCcagaaggtatgtgttgctgt	7	11	15	8	3	0	2	0	1	0	1	2	3	0	3	1	3	1	4	1	3	2	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr9:140638536C>A	uc011mfc.2	+	5	1201	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	EHMT1_uc004coa.3_Silent_p.A388A|EHMT1_uc004cob.1_Silent_p.A357A	NM_024757	NP_079033	Q9H9B1	EHMT1_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 1 (EHMT1), transcript variant 1, mRNA.	388			A -> T (in dbSNP:rs11137198).		DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding	p.S387S(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTGATCGCGCCCAGAAGGTAT	0.567													A	140638536	C	A	140638536	2	1	234	1	0	0	0	0	0	0	0	1	5022	610	22	4		4	EHMT1	9	140638536	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	28979018	140638536	574895	35	16212											
KIAA1462	57608	broad.mit.edu	37	chr10	30336587	30336587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttacgatgtgcgagggccGcagggccatcctcatgcccg	6	8	13	14	4	2	0	1	0	1	0	3	2	3	0	4	2	3	1	4	2	1	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr10:30336587G>A	uc009xle.2	-	1	292	c.155C>T	c.(154-156)gCg>gTg	p.A52V	KIAA1462_uc001iux.3_Missense_Mutation_p.A52V|KIAA1462_uc001iuy.3_Missense_Mutation_p.A52V|KIAA1462_uc001iuz.3_5'UTR	NM_020848	NP_065899	Q9P266	K1462_HUMAN	Homo sapiens KIAA1462 (KIAA1462), mRNA.	52										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TGCGAGGGCCGCAGGGCCATC	0.677													A	30336587	G	A	30336587	3	1	234	1	0	0	0	0	1	0	0	0	8292	1087	38	1	3936	1	KIAA1462	10	30336587	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		30336587	105198160	36	16213											
OR51T1	401665	broad.mit.edu	37	chr11	4904033	4904033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaagaccaagacaatcCgccaggctatgttccagctg	11	8	10	12	1	0	3	0	1	0	2	2	3	2	3	4	1	1	4	4	1	4	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:4904033C>T	uc010qyp.2	+	0	985	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAAGACAATCCGCCAGGCTAT	0.488													T	4904033	C	T	4904033	3	4	234	1	0	0	0	0	1	0	0	0	11182	652	23	1	987	1	OR51T1	11	4904033	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		4904033	130102483	37	16214											
OR52H1	390067	broad.mit.edu	37	chr11	5565836	5565836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtataaccttatctctgatCtgcttggtcttcactccgta	8	16	6	11	1	4	1	1	1	3	0	6	1	5	1	2	1	2	3	2	1	4	6			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:5565836C>A	uc010qzh.2	-	0	918	c.918G>T	c.(916-918)caG>caT	p.Q306H	HBG1_uc001mak.1_Intron	NM_001005289	NP_001005289	Q8NGJ2	O52H1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily H, member 1 (OR52H1), mRNA.	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;5.33e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATCTCTGATCTGCTTGGTCT	0.403													A	5565836	C	A	5565836	3	1	234	1	0	0	0	0	1	0	0	0	11195	912	32	4	47	4	OR52H1	11	5565836	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	661803	5565836	129440680	38	16215											
TRIM22	10346	broad.mit.edu	37	chr11	5730417	5730417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcttttggtgtcttcGgctgccaatatttctcttcg	3	20	8	10	2	3	0	0	0	3	0	6	0	3	0	1	2	2	2	1	2	2	7			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:5730417G>A	uc001mbr.3	+	7	1415	c.1036G>A	c.(1036-1038)Ggc>Agc	p.G346S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron|TRIM22_uc010qzm.2_Missense_Mutation_p.G174S|TRIM22_uc009yes.3_Missense_Mutation_p.G342S|OR56B1_uc001mbs.1_Intron|OR56B1_uc009yev.1_Intron	NM_006074	NP_006065	Q8IYM9	TRI22_HUMAN	Homo sapiens tripartite motif containing 22 (TRIM22), transcript variant 1, mRNA.	346	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TGGTGTCTTCGGCTGCCAATA	0.408													A	5730417	G	A	5730417	3	1	234	1	0	0	0	0	1	0	0	0	16597	1116	39	1	1062	1	TRIM22	11	5730417	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	164581	5730417	129276099	39	16216											
MPEG1	219972	broad.mit.edu	37	chr11	58978683	58978683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcactttttcagagaCggtgcccctaaatctctgga	8	10	11	12	2	2	1	1	0	1	1	3	3	2	2	3	4	1	1	3	4	2	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:58978683C>T	uc001nnu.4	-	0	1812	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P		NM_001039396	NP_001034485	Q2M385	MPEG1_HUMAN	Homo sapiens macrophage expressed 1 (MPEG1), mRNA.	552			P -> L (in dbSNP:rs7926933).			integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				TTTTCAGAGACGGTGCCCCTA	0.567													T	58978683	C	T	58978683	2	4	234	1	0	0	0	0	0	0	0	1	9799	523	19	1		1	MPEG1	11	58978683	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	53248266	58978683	76027833	40	16217											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260048	71260048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagctgctgtaagccctgTtgctcctcctcgggtcgtgg	3	12	13	13	2	0	0	0	0	0	0	4	0	2	0	3	2	5	6	3	2	1	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:71260048T>C	uc001oqs.1	+	0	583	c.345T>C	c.(343-345)tgT>tgC	p.C115C		NM_005553	NP_005544	P26371	KRA59_HUMAN	Homo sapiens keratin associated protein 5-9 (KRTAP5-9), mRNA.	115	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GTAAGCCCTGTTGCTCCTCCT	0.622													C	71260048	T	C	71260048	2	2	234	1	0	0	0	0	0	0	0	1	8627	1731	60	3		3	KRTAP5-9	11	71260048	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	12281365	71260048	63746468	41	16218											
NCAM1	4684	broad.mit.edu	37	chr11	113103495	113103496	+	Frame_Shift_Ins	INS	-	-	CATTGGGC																															aactgtactgcagtgaaccgINScattgggcaggagtccttgg																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:113103495_113103496insCATTGGGC	uc021qqp.1	+	12	1925_1926	c.1553_1554insCATTGGGC	c.(1552-1554)cgcfs	p.R518fs	NCAM1_uc001pnp.3_Frame_Shift_Ins_p.R482fs|NCAM1_uc021qqo.1_Frame_Shift_Ins_p.R482fs|NCAM1_uc001pnq.3_Frame_Shift_Ins_p.R492fs|NCAM1_uc001pnr.3_Frame_Shift_Ins_p.R482fs	NM_001242607	NP_001229536	P13591	NCAM1_HUMAN	Homo sapiens neural cell adhesion molecule 1 (NCAM1), transcript variant 5, mRNA.	494	Fibronectin type-III 1.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCAGTGAACCGCATTGGGCAGG	0.51													CATTGGGC	113103496	-	CATTGGGC	113103495	7	5	234	1	0	1	1	0	0	0	0	0	10278	1087	38	0	1528	0	NCAM1	11	113103495	Frame_Shift_Ins	INS	-	TCGA-32-2638-01A-01D-1495-08	41843447	113103495	21903021	42	16219											
SIK3	23387	broad.mit.edu	37	chr11	116732043	116732043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactattactgggctgcCtgaagagatggttgttgggg	8	11	17	5	0	0	2	0	1	0	1	0	5	0	3	1	5	2	3	1	5	3	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:116732043C>T	uc001ppy.3	-	17	2090	c.2054G>A	c.(2053-2055)aGg>aAg	p.R685K	SIK3_uc001ppz.3_Missense_Mutation_p.R584K|SIK3_uc001pqa.3_Missense_Mutation_p.R685K|SIK3_uc001ppw.3_Missense_Mutation_p.R102K|SIK3_uc001ppx.3_Intron|SIK3_uc001pqb.3_5'UTR	NM_025164	NP_079440	Q9Y2K2	SIK3_HUMAN	Homo sapiens SIK family kinase 3 (SIK3), mRNA.	685	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						ACTGGGCTGCCTGAAGAGATG	0.493											OREG0003492	type=REGULATORY REGION|Gene=BC035583|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	116732043	C	T	116732043	3	4	234	1	0	0	0	0	1	0	0	0	14413	681	24	2	1761	2	SIK3	11	116732043	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	3628548	116732043	18274473	43	16220											
TMPRSS4	56649	broad.mit.edu	37	chr11	117985628	117985628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcattggatggggctttaCgaagcagaatggaggtaagt	12	10	15	4	1	1	1	1	0	0	1	1	5	1	3	0	5	2	3	0	5	4	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:117985628C>T	uc021qrd.1	+	9	1286	c.995C>T	c.(994-996)aCg>aTg	p.T332M	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.T327M|TMPRSS4_uc010rxo.2_Missense_Mutation_p.T330M|TMPRSS4_uc010rxs.2_Missense_Mutation_p.T292M|TMPRSS4_uc010rxq.2_Missense_Mutation_p.T185M|TMPRSS4_uc010rxr.2_Missense_Mutation_p.T307M|TMPRSS4_uc010rxt.2_Missense_Mutation_p.T307M	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	332	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		TGGGGCTTTACGAAGCAGAAT	0.572													T	117985628	C	T	117985628	3	4	234	1	0	0	0	0	1	0	0	0	16349	536	19	1	1033	1	TMPRSS4	11	117985628	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	1253585	117985628	17020888	44	16221											
TECTA	7007	broad.mit.edu	37	chr11	121037459	121037459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcctttcagatcaacaaCaccaaagggaattgtggaaa	16	9	7	9	0	3	1	2	0	1	1	4	3	3	3	2	2	2	0	2	2	5	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr11:121037459C>T	uc010rzo.2	+	16	5556	c.5556C>T	c.(5554-5556)aaC>aaT	p.N1852N		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1852	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		AGATCAACAACACCAAAGGGA	0.498													T	121037459	C	T	121037459	2	4	234	1	0	0	0	0	0	0	0	1	15847	477	17	2		2	TECTA	11	121037459	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	3051831	121037459	13969057	45	16222											
CLEC12A	160364	broad.mit.edu	37	chr12	10132026	10132026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttctctacaactgatGagtaacatgaatatctccaa	16	13	4	8	0	2	3	0	3	2	0	4	3	2	3	1	0	3	1	1	0	8	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:10132026G>T	uc001qwq.3	+	3	343	c.312G>T	c.(310-312)atG>atT	p.M104I	CLEC12A_uc001qwr.4_Missense_Mutation_p.M94I|CLEC12A_uc001qws.4_Missense_Mutation_p.M61I|CLEC12A_uc001qwt.3_Missense_Mutation_p.M23I	NM_001207010	NP_001193939	Q5QGZ9	CL12A_HUMAN	Homo sapiens C-type lectin domain family 12, member A (CLEC12A), transcript variant 3, mRNA.	94						integral to membrane|plasma membrane	receptor activity|sugar binding	p.M104I(1)|p.M94I(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TACAACTGATGAGTAACATGA	0.363													T	10132026	G	T	10132026	3	4	234	1	0	0	0	0	1	0	0	0	3528	1290	45	4	292	4	CLEC12A	12	10132026	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		10132026	123719869	46	16223											
ITGB7	3695	broad.mit.edu	37	chr12	53590523	53590523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactggcagcgctccagcCgggtggggcaggggtggcgc	4	5	21	11	3	0	1	0	1	0	0	1	1	1	1	2	7	2	3	2	7	0	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:53590523C>T	uc009zmv.3	-	4	727	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	ITGB7_uc001scc.3_Missense_Mutation_p.R219Q|ITGB7_uc010snz.2_Non-coding_Transcript|ITGB7_uc010soa.1_3'UTR	NM_000889	NP_000880	P26010	ITB7_HUMAN	Homo sapiens integrin, beta 7 (ITGB7), mRNA.	219	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCGCTCCAGCCGGGTGGGGCA	0.617													T	53590523	C	T	53590523	3	4	234	1	0	0	0	0	1	0	0	0	7958	652	23	1	1784	1	ITGB7	12	53590523	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	43458497	53590523	80261372	47	16224											
ACACB	32	broad.mit.edu	37	chr12	109609642	109609642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggatcattacgtccccGtcccaggagggcccaataac	9	7	11	14	3	1	0	1	0	0	0	3	2	3	2	4	4	2	0	4	4	3	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr12:109609642G>A	uc001tob.3	+	4	1077	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	ACACB_uc001toc.3_Missense_Mutation_p.V320I	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	320	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TTACGTCCCCGTCCCAGGAGG	0.502													A	109609642	G	A	109609642	3	1	234	1	0	0	0	0	1	0	0	0	107	1145	40	1	972	1	ACACB	12	109609642	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	56019119	109609642	24242253	48	16225											
XPO4	64328	broad.mit.edu	37	chr13	21362729	21362729	+	Frame_Shift_Del	DEL	G	G	-																															cagataaatgtgattaatttGtagtactgattacaaagggt																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr13:21362729delG	uc001unq.4	-	19	2979	c.2943delC	c.(2941-2943)tacfs	p.Y981fs		NM_022459	NP_071904	Q9C0E2	XPO4_HUMAN	Homo sapiens exportin 4 (XPO4), mRNA.	981					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGATTAATTTGTAGTACTGAT	0.299													-	21362729	G	-	21362729	7	5	234	1	0	1	0	1	0	0	0	0	17548	1372	48	0	528	0	XPO4	13	21362729	Frame_Shift_Del	DEL	G	TCGA-32-2638-01A-01D-1495-08		21362729	93807149	49	16226											
KCTD12	115207	broad.mit.edu	37	chr13	77459429	77459429	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatgtggaagcccgactcGgacagcttgtcgaaggcctg	9	7	13	12	3	0	0	0	0	0	0	2	4	0	2	3	3	2	1	3	3	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr13:77459429G>A	uc001vka.1	-	0	1112	c.855C>T	c.(853-855)tcC>tcT	p.S285S	KCTD12_uc010aeu.1_Silent_p.S285S	NM_138444	NP_612453	Q96CX2	KCD12_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 12 (KCTD12), mRNA.	285						cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4		Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.0499)		AGCCCGACTCGGACAGCTTGT	0.637											OREG0022449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	77459429	G	A	77459429	2	1	234	1	0	0	0	0	0	0	0	1	8157	1103	39	1		1	KCTD12	13	77459429	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	56096700	77459429	37710449	50	16227											
KCNH5	27133	broad.mit.edu	37	chr14	63447809	63447809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaggctatgttgttctgCtttgttttgaaggaaacatt	9	16	10	6	0	1	1	0	1	1	0	1	2	1	2	1	2	3	5	1	2	3	7			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr14:63447809C>T	uc001xfx.3	-	5	774	c.723G>A	c.(721-723)aaG>aaA	p.K241K	KCNH5_uc001xfy.3_Silent_p.K241K|KCNH5_uc001xfz.1_Silent_p.K183K|KCNH5_uc001xga.3_Silent_p.K183K	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	241					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity	p.K241K(4)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TGTTGTTCTGCTTTGTTTTGA	0.398													T	63447809	C	T	63447809	2	4	234	1	0	0	0	0	0	0	0	1	8093	796	28	2		2	KCNH5	14	63447809	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08		63447809	43901731	51	16228											
SERPINA9	327657	broad.mit.edu	37	chr14	94933658	94933658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcacagtgacctgctcGcccaccaggaatgggaagtt	11	7	11	12	1	0	1	0	1	0	0	1	3	0	3	3	2	2	3	3	2	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr14:94933658G>A	uc001ydf.3	-	2	905	c.744C>T	c.(742-744)ggC>ggT	p.G248G	SERPINA9_uc001yde.3_Silent_p.G148G|SERPINA9_uc010avc.3_Silent_p.G99G|SERPINA9_uc001ydg.3_Silent_p.G212G|SERPINA9_uc001ydh.1_Silent_p.G248G|SERPINA9_uc001ydi.1_Silent_p.G212G	NM_175739	NP_783866	Q86WD7	SPA9_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9 (SERPINA9), transcript variant A, mRNA.	230					regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		TGACCTGCTCGCCCACCAGGA	0.473													A	94933658	G	A	94933658	2	1	234	1	0	0	0	0	0	0	0	1	14188	1074	38	1		1	SERPINA9	14	94933658	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	31485849	94933658	12415882	52	16229											
TMCO5A	145942	broad.mit.edu	37	chr15	38239874	38239874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagggtactcctacccaaaaGacagcaagattattcagtaa	16	8	7	10	0	1	2	1	0	0	2	2	2	2	2	2	1	3	3	2	1	7	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr15:38239874G>C	uc001zjw.3	+	9	747	c.645G>C	c.(643-645)aaG>aaC	p.K215N	TMCO5A_uc001zjv.1_Missense_Mutation_p.K215N	NM_152453	NP_689666	Q8N6Q1	TMC5A_HUMAN	Homo sapiens transmembrane and coiled-coil domains 5A (TMCO5A), mRNA.	215						integral to membrane				central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	15						CTACCCAAAAGACAGCAAGAT	0.348													C	38239874	G	C	38239874	3	2	234	1	0	0	0	0	1	0	0	0	16099	933	33	4	679	4	TMCO5A	15	38239874	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		38239874	64291518	53	16230											
SRRM2	23524	broad.mit.edu	37	chr16	2812739	2812739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaacaaatccagaacatCtcaaagaagaagcaggtcca	21	4	7	9	0	1	3	1	0	1	3	4	4	3	3	2	1	3	1	2	1	7	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr16:2812739C>T	uc002crk.3	+	10	2759	c.2210C>T	c.(2209-2211)tCt>tTt	p.S737F	SRRM2_uc002crj.1_Missense_Mutation_p.S641F|SRRM2_uc002crl.1_Missense_Mutation_p.S737F|SRRM2_uc010bsu.1_Missense_Mutation_p.S641F	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	737	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCAGAACATCTCAAAGAAGA	0.448													T	2812739	C	T	2812739	3	4	234	1	0	0	0	0	1	0	0	0	15265	913	32	2	2248	2	SRRM2	16	2812739	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		2812739	87542014	54	16231											
VPS53	55275	broad.mit.edu	37	chr17	440383	440383	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgacgtaggggctctGgtcaccaacgtgctccacgt	8	8	14	11	3	2	2	1	1	1	1	3	2	3	2	2	4	2	3	2	4	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:440383G>A	uc010cjo.2	-	17	2047	c.1900C>T	c.(1900-1902)Cag>Tag	p.Q634*	VPS53_uc002frk.3_Nonsense_Mutation_p.Q153*|VPS53_uc002frl.2_Non-coding_Transcript|VPS53_uc002frm.2_Nonsense_Mutation_p.Q605*|VPS53_uc002frn.2_Nonsense_Mutation_p.Q634*|VPS53_uc002fro.2_Nonsense_Mutation_p.Q436*|VPS53_uc010cjp.1_Nonsense_Mutation_p.Q357*	NM_001128159	NP_001121631	Q5VIR6	VPS53_HUMAN	Homo sapiens vacuolar protein sorting 53 homolog (S. cerevisiae) (VPS53), transcript variant 1, mRNA.	634					protein transport	endosome membrane|Golgi apparatus				breast(1)|endometrium(4)|large_intestine(5)|lung(8)|prostate(1)	19				UCEC - Uterine corpus endometrioid carcinoma (25;0.0265)		TAGGGGCTCTGGTCACCAACG	0.547													A	440383	G	A	440383	4	1	234	1	0	0	0	0	0	1	0	0	17317	1357	47	2	633	2	VPS53	17	440383	Nonsense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08		440383	80754827	55	16232											
GSDMB	55876	broad.mit.edu	37	chr17	38062400	38062400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgaatatcctccttgccGaggcacttagcgagggagtt	8	10	12	11	3	0	0	0	0	0	0	2	4	2	1	4	2	3	2	4	2	3	4			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:38062400G>A	uc010cwj.3	-	7	983	c.852C>T	c.(850-852)ctC>ctT	p.L284L	GSDMB_uc010cwi.3_Silent_p.L31L|GSDMB_uc010cwl.3_Non-coding_Transcript|GSDMB_uc010cwm.3_Non-coding_Transcript|GSDMB_uc010cwk.3_Non-coding_Transcript|GSDMB_uc002htg.3_Silent_p.L262L|GSDMB_uc002hth.3_Silent_p.L271L|GSDMB_uc010wem.2_Silent_p.L275L	NM_001165958	NP_001159430	Q8TAX9	GSDMB_HUMAN	Homo sapiens gasdermin B (GSDMB), transcript variant 3, mRNA.	279						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						CCTCCTTGCCGAGGCACTTAG	0.522													A	38062400	G	A	38062400	2	1	234	1	0	0	0	0	0	0	0	1	6872	1045	37	1		1	GSDMB	17	38062400	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	37622017	38062400	43132810	56	16233											
ITGA3	3675	broad.mit.edu	37	chr17	48156217	48156217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggctacaaagcttctttgGggggacagtgatgggtgagt	8	10	16	7	1	1	2	0	2	1	0	1	3	1	3	1	5	2	2	1	5	2	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:48156217G>A	uc010dbm.3	+	18	2791	c.2327G>A	c.(2326-2328)gGg>gAg	p.G776E	ITGA3_uc010dbl.3_Missense_Mutation_p.G776E	NM_005501	NP_005492	P26006	ITA3_HUMAN	Homo sapiens integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor) (ITGA3), transcript variant b, mRNA.	776					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						AGCTTCTTTGGGGGGACAGTG	0.582													A	48156217	G	A	48156217	3	1	234	1	0	0	0	0	1	0	0	0	7935	1232	43	2	2401	2	ITGA3	17	48156217	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	10093817	48156217	33038993	57	16234											
ANKRD40	91369	broad.mit.edu	37	chr17	48776813	48776813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggctggaatgctggcGctggtcctgcatacgtccca	9	9	12	11	2	0	0	0	0	0	0	2	1	2	1	2	4	3	4	2	4	4	1	rs148279576		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:48776813G>A	uc002iso.3	-	2	980	c.725C>T	c.(724-726)gCg>gTg	p.A242V		NM_052855	NP_443087	Q6AI12	ANR40_HUMAN	Homo sapiens ankyrin repeat domain 40 (ANKRD40), mRNA.	242	Pro-rich.									breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GAATGCTGGCGCTGGTCCTGC	0.522													A	48776813	G	A	48776813	3	1	234	1	0	0	0	0	1	0	0	0	669	1087	38	1	393	1	ANKRD40	17	48776813	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	620596	48776813	32418397	58	16235											
COIL	8161	broad.mit.edu	37	chr17	55027963	55027963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggagaactacatctctGattggcccagtctttcactg	8	15	8	10	0	3	2	1	1	2	1	4	3	3	2	1	2	2	0	1	2	2	5			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:55027963G>T	uc002iuu.3	-	1	671	c.640C>A	c.(640-642)Cag>Aag	p.Q214K		NM_004645	NP_004636	P38432	COIL_HUMAN	Homo sapiens coilin (COIL), mRNA.	214						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CTACATCTCTGATTGGCCCAG	0.403													T	55027963	G	T	55027963	3	4	234	1	0	0	0	0	1	0	0	0	3696	1299	45	4	1114	4	COIL	17	55027963	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	6251150	55027963	26167247	59	16236											
ABCA9	10350	broad.mit.edu	37	chr17	66981088	66981088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagaagcaccactgaCgggttccccaggatgctcag	10	7	10	14	1	2	2	2	1	0	1	4	3	4	3	4	2	2	3	4	2	1	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr17:66981088C>T	uc002jhu.3	-	33	4460	c.4317G>A	c.(4315-4317)ccG>ccA	p.P1439P	ABCA9_uc010dez.3_Silent_p.P1401P	NM_080283	NP_525022	Q8IUA7	ABCA9_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 9 (ABCA9), mRNA.	1439	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity	p.P1439P(2)|p.P1439Q(1)		NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GCACCACTGACGGGTTCCCCA	0.587													T	66981088	C	T	66981088	2	4	234	1	0	0	0	0	0	0	0	1	39	523	19	1		1	ABCA9	17	66981088	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	11953125	66981088	14214122	60	16237											
SETBP1	26040	broad.mit.edu	37	chr18	42529847	42529847	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccacccacccttaggCttacgagaggccccagaaac	11	5	7	18	1	0	2	0	0	0	2	1	3	1	2	6	2	2	1	6	2	3	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr18:42529847C>G	uc010dni.3	+	4	837	c.541_splice	c.e4-1	p.A181_splice		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	181						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACCCTTAGGCTTACGAGAGG	0.468									Schinzel-Giedion syndrome				G	42529847	C	G	42529847	3	3	234	1	0	0	0	0	1	0	0	0	14222	811	28	4	745	4	SETBP1	18	42529847	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		42529847	35547401	61	16238											
SLC14A1	6563	broad.mit.edu	37	chr18	43310353	43310353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggggtgaaaaccaggtttCgccatgtcaagggagaaggt	12	8	15	6	1	1	2	1	1	0	1	2	3	1	2	2	5	1	1	2	5	5	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr18:43310353C>T	uc010dnk.3	+	3	458	c.236C>T	c.(235-237)tCg>tTg	p.S79L	SLC14A1_uc002lbi.4_Intron|SLC14A1_uc010xcn.2_Missense_Mutation_p.S23L|SLC14A1_uc002lbf.4_Missense_Mutation_p.S23L|SLC14A1_uc002lbg.4_Non-coding_Transcript|SLC14A1_uc010xco.2_Intron|SLC14A1_uc002lbh.4_Intron|SLC14A1_uc002lbj.4_Missense_Mutation_p.S79L|SLC14A1_uc002lbk.4_Missense_Mutation_p.S23L|SLC14A1_uc021ujg.1_Missense_Mutation_p.S23L	NM_001128588	NP_056949	Q13336	UT1_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 1 (Kidd blood group) (SLC14A1), transcript variant 1, mRNA.	23						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						AACCAGGTTTCGCCATGTCAA	0.507													T	43310353	C	T	43310353	3	4	234	1	0	0	0	0	1	0	0	0	14490	893	31	1	242	1	SLC14A1	18	43310353	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	780506	43310353	34766895	62	16239											
SF3A2	8175	broad.mit.edu	37	chr19	2248259	2248260	+	Frame_Shift_Ins	INS	-	-	G																															gtccatcctcccccatcagcINSgggggttcacccccaggccc																										TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:2248259_2248260insG	uc002lvg.3	+	8	1231_1232	c.1109_1110insG	c.(1108-1110)gcgfs	p.A370fs	AMH_uc002lvh.2_5'Flank|AMH_uc021umr.1_5'Flank	NM_007165	NP_009096	Q15428	SF3A2_HUMAN	Homo sapiens splicing factor 3a, subunit 2, 66kDa (SF3A2), mRNA.	370	Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		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)		CCCCCATCAGCGGGGGTTCACC	0.748													G	2248260	-	G	2248259	7	5	234	1	0	1	1	0	0	0	0	0	14240	768	27	0	1139	0	SF3A2	19	2248259	Frame_Shift_Ins	INS	-	TCGA-32-2638-01A-01D-1495-08		2248259	56880724	63	16240											
LRRC8E	80131	broad.mit.edu	37	chr19	7965735	7965735	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaaggcggggctcctGgtggaagacacgctttacca	10	7	13	11	2	1	2	1	0	0	2	2	3	2	3	2	5	1	2	2	5	4	2			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:7965735G>T	uc002mir.3	+	2	2429	c.2328G>T	c.(2326-2328)ctG>ctT	p.L776L		NM_025061	NP_079337	Q6NSJ5	LRC8E_HUMAN	Homo sapiens leucine rich repeat containing 8 family, member E (LRRC8E), mRNA.	776						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGGGGCTCCTGGTGGAAGACA	0.597													T	7965735	G	T	7965735	2	4	234	1	0	0	0	0	0	0	0	1	9095	1335	47	4		4	LRRC8E	19	7965735	Silent	SNP	G	TCGA-32-2638-01A-01D-1495-08	5717476	7965735	51163248	64	16241											
MUC16	94025	broad.mit.edu	37	chr19	9072143	9072143	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggccagtatcttatcTgaggtgctgctgaaatttgg	9	13	13	6	0	2	2	0	2	2	0	2	3	2	2	1	3	2	3	1	3	4	3			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr19:9072143T>A	uc002mkp.3	-	2	15507	c.15303A>T	c.(15301-15303)tcA>tcT	p.S5101S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	5103	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						GTATCTTATCTGAGGTGCTGC	0.423													A	9072143	T	A	9072143	2	1	234	1	0	0	0	0	0	0	0	1	10049	1567	55	5		5	MUC16	19	9072143	Silent	SNP	T	TCGA-32-2638-01A-01D-1495-08	1106408	9072143	50056840	65	16242											
CRKL	1399	broad.mit.edu	37	chr22	21272527	21272527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaccctcatcgagcctgCgcccaggtacgcgagagccc	8	4	10	19	4	1	1	1	0	0	1	2	3	1	1	5	1	4	1	5	1	1	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:21272527C>T	uc002ztf.2	+	0	814	c.305C>T	c.(304-306)gCg>gTg	p.A102V		NM_005207	NP_005198	P46109	CRKL_HUMAN	Homo sapiens v-crk sarcoma virus CT10 oncogene homolog (avian)-like (CRKL), mRNA.	102	SH2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ATCGAGCCTGCGCCCAGGTAC	0.607													T	21272527	C	T	21272527	3	4	234	1	0	0	0	0	1	0	0	0	3916	768	27	1	307	1	CRKL	22	21272527	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08		21272527	30032039	66	16243											
MTMR3	8897	broad.mit.edu	37	chr22	30413988	30413988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgccctgcccatccccaAccacccctgtggacgacagc	8	5	7	21	1	0	0	0	0	0	0	1	2	1	1	8	1	4	0	8	1	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:30413988A>G	uc003agv.4	+	15	2075	c.1747A>G	c.(1747-1749)Acc>Gcc	p.T583A	MTMR3_uc003agu.4_Missense_Mutation_p.T583A|MTMR3_uc003agw.4_Missense_Mutation_p.T583A	NM_021090	NP_066576	Q13615	MTMR3_HUMAN	Homo sapiens myotubularin related protein 3 (MTMR3), transcript variant 3, mRNA.	583					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CCCATCCCCAACCACCCCTGT	0.632													G	30413988	A	G	30413988	3	3	234	1	0	0	0	0	1	0	0	0	10021	43	2	3	1801	3	MTMR3	22	30413988	Missense_Mutation	SNP	A	TCGA-32-2638-01A-01D-1495-08	9141461	30413988	20890578	67	16244											
SLC5A4	6527	broad.mit.edu	37	chr22	32626981	32626981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagttccagcaccatcGtggggtatgcgtagttggtg	7	11	14	9	2	1	0	1	0	0	0	3	0	2	0	2	3	2	6	2	3	2	4	rs150200210		TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:32626981G>A	uc003ami.3	-	9	1105	c.1103C>T	c.(1102-1104)aCg>aTg	p.T368M		NM_014227	NP_055042	Q9NY91	SC5A4_HUMAN	Homo sapiens solute carrier family 5 (low affinity glucose cotransporter), member 4 (SLC5A4), mRNA.	368					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCACCATCGTGGGGTATGC	0.537													A	32626981	G	A	32626981	3	1	234	1	0	0	0	0	1	0	0	0	14761	1145	40	1	900	1	SLC5A4	22	32626981	Missense_Mutation	SNP	G	TCGA-32-2638-01A-01D-1495-08	2212993	32626981	18677585	68	16245											
MKL1	57591	broad.mit.edu	37	chr22	40814904	40814904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctagctccgcccgccccCcagggctcaggcaacaggac	7	4	10	20	2	2	0	1	0	1	0	3	1	3	1	6	3	2	3	6	3	2	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:40814904C>T	uc003ayv.1	-	8	1745	c.1538G>A	c.(1537-1539)gGg>gAg	p.G513E	MKL1_uc010gyf.1_Missense_Mutation_p.G463E|MKL1_uc003ayw.1_Missense_Mutation_p.G513E|MKL1_uc010gye.1_Missense_Mutation_p.G513E	NM_020831	NP_065882	Q969V6	MKL1_HUMAN	Homo sapiens megakaryoblastic leukemia (translocation) 1 (MKL1), mRNA.	513					positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CGCCCGCCCCCCAGGGCTCAG	0.672			T	RBM15	acute megakaryocytic leukemia								T	40814904	C	T	40814904	3	4	234	1	0	0	0	0	1	0	0	0	9676	623	22	2	1273	2	MKL1	22	40814904	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	8187923	40814904	10489662	69	16246											
TEF	7008	broad.mit.edu	37	chr22	41790269	41790269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaggaggacctgaagccCcagcctatgatcaaaaaggc	13	5	12	11	0	1	3	1	3	0	0	1	5	1	5	4	3	2	1	4	3	4	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chr22:41790269C>A	uc011apa.2	+	2	746	c.660C>A	c.(658-660)ccC>ccA	p.P220P	TEF_uc003azx.3_Silent_p.P185P|TEF_uc021wqe.1_Silent_p.P109P|TEF_uc003azy.3_Silent_p.P215P	NM_001145398	NP_001138870	Q10587	TEF_HUMAN	Homo sapiens thyrotrophic embryonic factor (TEF), transcript variant 2, mRNA.	215					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						ACCTGAAGCCCCAGCCTATGA	0.547													A	41790269	C	A	41790269	2	1	234	1	0	0	0	0	0	0	0	1	15850	610	22	4		4	TEF	22	41790269	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08	975365	41790269	9514297	70	16247											
OTUD6A	139562	broad.mit.edu	37	chrX	69283226	69283226	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcgccgccgggggcgtgctCccgcgtctcctgtaggcccc	1	6	16	18	6	1	0	0	0	1	0	3	0	2	0	6	4	1	2	6	4	1	1			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chrX:69283226C>G	uc004dxu.1	+	0	886	c.852C>G	c.(850-852)ctC>ctG	p.L284L		NM_207320	NP_997203	Q7L8S5	OTU6A_HUMAN	Homo sapiens OTU domain containing 6A (OTUD6A), mRNA.	284										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						GGGGCGTGCTCCCGCGTCTCC	0.637													G	69283226	C	G	69283226	2	3	234	1	0	0	0	0	0	0	0	1	11392	842	30	4		4	OTUD6A	23	69283226	Silent	SNP	C	TCGA-32-2638-01A-01D-1495-08		69283226	85987334	71	16248											
GLUD2	2747	broad.mit.edu	37	chrX	120181603	120181603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctgccctgggctccgCggccaaccactcggccgcgt	3	5	13	20	6	0	0	0	0	0	0	2	0	1	0	6	3	2	2	6	3	1	0			TCGA-32-2638-01A-01D-1495-08	TCGA-32-2638-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e103221-ab46-4a5c-9b96-5e34f0d49fc2	1f0b3a10-8f1e-432c-9c39-cdcb8855a4c2	g.chrX:120181603C>T	uc004eto.3	+	0	142	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_012084	NP_036216	P49448	DHE4_HUMAN	Homo sapiens glutamate dehydrogenase 2 (GLUD2), nuclear gene encoding mitochondrial protein, mRNA.	22					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTGGGCTCCGCGGCCAACCAC	0.786													T	120181603	C	T	120181603	3	4	234	1	0	0	0	0	1	0	0	0	6533	768	27	1	67	1	GLUD2	23	120181603	Missense_Mutation	SNP	C	TCGA-32-2638-01A-01D-1495-08	50898377	120181603	35088957	72	16249											
MFN2	9927	broad.mit.edu	37	chr1	12052619	12052619	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccccacctccagacacgtaCaggaatgcagaactggaccc	12	5	8	16	1	0	2	0	0	0	2	2	4	2	4	5	2	3	2	5	2	3	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:12052619C>G	uc001atn.4	+	3	636	c.183C>G	c.(181-183)taC>taG	p.Y61*	MFN2_uc009vni.3_Nonsense_Mutation_p.Y61*	NM_014874	NP_055689	O95140	MFN2_HUMAN	Homo sapiens mitofusin 2 (MFN2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	61					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CAGACACGTACAGGAATGCAG	0.562													G	12052619	C	G	12052619	4	3	235	1	0	0	0	0	0	1	0	0	9599	489	17	4	189	4	MFN2	1	12052619	Nonsense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		12052619	237198002	1	16250											
JAK1	3716	broad.mit.edu	37	chr1	65313353	65313353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgcctctcccaaggtgCtcgccctgagggaagaagca	8	7	12	14	2	1	2	0	1	1	1	4	3	1	3	3	2	3	2	3	2	3	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:65313353C>A	uc001dbu.1	-	12	2010	c.1761G>T	c.(1759-1761)gaG>gaT	p.E587D	JAK1_uc009wam.1_Missense_Mutation_p.E587D|JAK1_uc009wal.1_5'Flank	NM_002227	NP_002218	P23458	JAK1_HUMAN	Homo sapiens Janus kinase 1 (JAK1), mRNA.	587	Protein kinase 1.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TCCCAAGGTGCTCGCCCTGAG	0.507			Mis		ALL								A	65313353	C	A	65313353	3	1	235	1	0	0	0	0	1	0	0	0	7995	796	28	4	1755	4	JAK1	1	65313353	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	53260734	65313353	183937268	2	16251											
EPHX4	253152	broad.mit.edu	37	chr1	92515977	92515977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaataaatgatttcaaGgtaagccaaacaaatcaaac	19	10	4	8	0	3	1	3	1	1	0	4	1	3	1	1	1	3	1	1	1	8	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:92515977G>C	uc001don.2	+	5	812	c.708_splice	c.e5+1	p.K236_splice		NM_173567	NP_775838	Q8IUS5	EPHX4_HUMAN	Homo sapiens epoxide hydrolase 4 (EPHX4), mRNA.	236						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						ATGATTTCAAGGTAAGCCAAA	0.269													C	92515977	G	C	92515977	3	2	235	1	0	0	0	0	1	0	0	0	5223	1014	35	4	726	4	EPHX4	1	92515977	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	27202624	92515977	156734644	3	16252											
EXTL2	2135	broad.mit.edu	37	chr1	101339636	101339636	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagcgtgctcagctcgAtgccacattccagaatagcc	10	8	10	13	2	1	2	1	0	0	2	3	3	2	2	3	0	6	3	3	0	2	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:101339636A>G	uc001dtk.1	-	4	1192	c.855T>C	c.(853-855)caT>caC	p.H285H	EXTL2_uc001dtl.1_Silent_p.H285H|EXTL2_uc010ouk.1_Silent_p.H272H|EXTL2_uc001dtm.1_Silent_p.H284H	NM_001439	NP_001430	Q9UBQ6	EXTL2_HUMAN	Homo sapiens exostoses (multiple)-like 2 (EXTL2), transcript variant 1, mRNA.	285					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	p.W284*(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		GCTCAGCTCGATGCCACATTC	0.398													G	101339636	A	G	101339636	2	3	235	1	0	0	0	0	0	0	0	1	5368	330	12	3		3	EXTL2	1	101339636	Silent	SNP	A	TCGA-32-4208-01A-01D-1353-08	8823659	101339636	147910985	4	16253											
NUP210L	91181	broad.mit.edu	37	chr1	154125256	154125256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaggcgtatcggttgcGtagattcagcaatgagtaca	10	11	13	7	3	1	3	1	2	0	1	2	3	1	3	0	2	4	6	0	2	4	5	rs150389273	by1000genomes	TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:154125256G>C	uc001fdw.3	-	1	368	c.296C>G	c.(295-297)aCg>aGg	p.T99R	NUP210L_uc010peh.2_Missense_Mutation_p.T99R	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	99						integral to membrane		p.T99T(1)		NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TATCGGTTGCGTAGATTCAGC	0.423													C	154125256	G	C	154125256	3	2	235	1	0	0	0	0	1	0	0	0	10837	1145	40	4	5526	4	NUP210L	1	154125256	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	52785620	154125256	95125365	5	16254											
HMCN1	83872	broad.mit.edu	37	chr1	185878606	185878606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcactgtgtctttgagtggGccttctccaatgattgaaat	8	15	10	8	0	3	3	1	3	2	0	4	3	3	3	2	1	0	0	2	1	2	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:185878606G>A	uc001grq.1	+	4	988	c.759G>A	c.(757-759)ggG>ggA	p.G253G		NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	253					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTTGAGTGGGCCTTCTCCAA	0.363													A	185878606	G	A	185878606	2	1	235	1	0	0	0	0	0	0	0	1	7275	1190	42	2		2	HMCN1	1	185878606	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	31753350	185878606	63372015	6	16255											
CACNA1S	779	broad.mit.edu	37	chr1	201029914	201029914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagcacctcagtgggcGggccttcagggcatactgta	9	9	13	10	1	2	0	2	0	0	0	2	0	2	0	2	3	2	4	2	3	4	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:201029914G>T	uc001gvv.3	-	25	3513	c.3286C>A	c.(3286-3288)Cgc>Agc	p.R1096S		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	1096					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.R1096H(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAGTGGGCGGGCCTTCAGG	0.532													T	201029914	G	T	201029914	3	4	235	1	0	0	0	0	1	0	0	0	2573	1116	39	4	2411	4	CACNA1S	1	201029914	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	15151308	201029914	48220707	7	16256											
EPRS	2058	broad.mit.edu	37	chr1	220146600	220146600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttgtgaaaagggtgacctgGatgtcttccaaaatagcttg	11	12	11	7	0	1	2	0	2	1	0	2	3	2	3	2	2	1	1	2	2	5	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr1:220146600G>C	uc001hly.1	-	28	4494	c.4224C>G	c.(4222-4224)atC>atG	p.I1408M	RNU5F-1_uc021pjd.1_Intron	NM_004446	NP_004437	P07814	SYEP_HUMAN	Homo sapiens glutamyl-prolyl-tRNA synthetase (EPRS), mRNA.	1408	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGGTGACCTGGATGTCTTCCA	0.423													C	220146600	G	C	220146600	3	2	235	1	0	0	0	0	1	0	0	0	5232	1164	41	4	330	4	EPRS	1	220146600	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	19116686	220146600	29104021	8	16257											
IFT172	26160	broad.mit.edu	37	chr2	27688614	27688614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattggccagcctctcaccGgatgtagttgccatcatcaa	9	12	8	12	1	3	0	3	0	1	0	4	1	3	1	4	2	2	2	4	2	3	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:27688614G>A	uc002rku.3	-	17	1880	c.1829_splice	c.e17+1	p.R610_splice		NM_015662	NP_056477	Q9UG01	IF172_HUMAN	Homo sapiens intraflagellar transport 172 homolog (Chlamydomonas) (IFT172), mRNA.	610					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GCCTCTCACCGGATGTAGTTG	0.537													A	27688614	G	A	27688614	3	1	235	1	0	0	0	0	1	0	0	0	7615	1130	39	1	3549	1	IFT172	2	27688614	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		27688614	215510759	9	16258											
GCC2	9648	broad.mit.edu	37	chr2	109103075	109103075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccagcagagagtgacaGcactacaggaagagtgccgt	14	5	12	10	1	0	3	0	1	0	2	0	5	0	4	2	1	5	2	2	1	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:109103075G>A	uc002tec.3	+	15	4055	c.3901G>A	c.(3901-3903)Gca>Aca	p.A1301T	GCC2_uc002ted.3_Missense_Mutation_p.A1200T	NM_181453	NP_852118	Q8IWJ2	GCC2_HUMAN	Homo sapiens GRIP and coiled-coil domain containing 2 (GCC2), transcript variant 1, mRNA.	1301					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.A1301V(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GAGAGTGACAGCACTACAGGA	0.512													A	109103075	G	A	109103075	3	1	235	1	0	0	0	0	1	0	0	0	6340	971	34	2	3963	2	GCC2	2	109103075	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	81414461	109103075	134096298	10	16259											
LRP2	4036	broad.mit.edu	37	chr2	170026272	170026272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgcatttcagttcacTgtgtacacaatgtccacttg	9	14	6	12	1	2	0	2	0	0	0	5	0	4	0	2	0	1	3	2	0	2	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:170026272T>C	uc002ues.3	-	59	11650	c.11437A>G	c.(11437-11439)Agt>Ggt	p.S3813G		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	3813	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTCAGTTCACTGTGTACACAA	0.438													C	170026272	T	C	170026272	3	2	235	1	0	0	0	0	1	0	0	0	9026	1580	55	3	2610	3	LRP2	2	170026272	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	60923197	170026272	73173101	11	16260											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:209113112C>T	uc002vcs.3	-	3	641	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_uc002vct.3_Missense_Mutation_p.R132H|IDH1_uc002vcu.3_Missense_Mutation_p.R132H	NM_005896	NP_005887	O75874	IDHC_HUMAN	Homo sapiens isocitrate dehydrogenase 1 (NADP+), soluble (IDH1), mRNA.	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(6425)|p.R132C(590)|p.R132?(189)|p.R132G(173)|p.R132S(140)|p.R132L(130)|p.R132V(2)|p.G131_R132>VL(2)|p.R132P(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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	235	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	39086840	209113112	34086261	12	16261											
RHBDD1	84236	broad.mit.edu	37	chr2	227729644	227729644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaccatgctgatgatTggcatttgtatttcaatatg	9	16	7	9	0	2	2	2	2	0	0	2	2	2	2	2	1	1	3	2	1	3	6			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:227729644T>C	uc021vxo.1	+	3	759	c.235T>C	c.(235-237)Tgg>Cgg	p.W79R	RHBDD1_uc002voi.3_Missense_Mutation_p.W79R|RHBDD1_uc010fxc.3_Missense_Mutation_p.W79R	NM_001167608	NP_115652	Q8TEB9	RHBD1_HUMAN	Homo sapiens rhomboid domain containing 1 (RHBDD1), transcript variant 2, mRNA.	79						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		TGCTGATGATTGGCATTTGTA	0.438													C	227729644	T	C	227729644	3	2	235	1	0	0	0	0	1	0	0	0	13405	1812	63	3	237	3	RHBDD1	2	227729644	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	18616532	227729644	15469729	13	16262											
BOK	666	broad.mit.edu	37	chr2	242509549	242509549	+	Frame_Shift_Del	DEL	G	G	-																															tctccctgcaggcatcacgtGgggcaaggtggtgtccctgt																										TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr2:242509549delG	uc002wbq.3	+	3	651	c.359delG	c.(358-360)tggfs	p.W120fs	BOK_uc002wbr.3_5'Flank	NM_032515	NP_115904	Q9UMX3	BOK_HUMAN	Homo sapiens BCL2-related ovarian killer (BOK), mRNA.	120					activation of caspase activity|cell proliferation|signal transduction by p53 class mediator resulting in induction of apoptosis	mitochondrial membrane|nucleus				large_intestine(1)|lung(3)|ovary(1)	5		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.04e-33)|all cancers(36;7.87e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.52e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.64e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0835)		GGCATCACGTGGGGCAAGGTG	0.657													-	242509549	G	-	242509549	7	5	235	1	0	1	0	1	0	0	0	0	1490	1357	47	0	369	0	BOK	2	242509549	Frame_Shift_Del	DEL	G	TCGA-32-4208-01A-01D-1353-08	14779905	242509549	689824	14	16263											
TATDN2	9797	broad.mit.edu	37	chr3	10312062	10312064	+	In_Frame_Del	DEL	GCA	GCA	-																															ttctagctacccctccacagGcagcagcagcaacgatgcag																										TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:10312062_10312064delGCA	uc011atr.2	+	3	1777_1779	c.1196_1198delGCA	c.(1195-1200)ggcagc>ggc	p.S402del	TATDN2_uc003bvg.2_In_Frame_Del_p.S402del|TATDN2_uc003bvf.3_In_Frame_Del_p.S402del|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	402						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCCTCCACAGGCAGCAGCAGCAA	0.552													-	10312064	GCA	-	10312062	7	5	235	1	0	1	0	1	0	0	0	0	15689	1203	42	0	1206	0	TATDN2	3	10312062	In_Frame_Del	DEL	GCA	TCGA-32-4208-01A-01D-1353-08		10312062	187710368	15	16264											
DOCK3	1795	broad.mit.edu	37	chr3	51387773	51387773	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagcaacgcctggagcctGagttctttcgggtcggcttc	6	10	13	12	3	1	1	0	1	1	0	4	2	1	2	2	3	4	4	2	3	1	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:51387773G>C	uc011bds.2	+	39	4080	c.4057G>C	c.(4057-4059)Gag>Cag	p.E1353Q		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1353	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTGGAGCCTGAGTTCTTTCG	0.448													C	51387773	G	C	51387773	3	2	235	1	0	0	0	0	1	0	0	0	4727	1291	45	4	4215	4	DOCK3	3	51387773	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	41075711	51387773	146634657	16	16265											
TNFSF10	8743	broad.mit.edu	37	chr3	172232698	172232698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacttgccagcaggggcTgttcatactctcttcgtcat	6	14	9	12	1	3	1	2	1	1	0	5	1	3	1	1	2	3	3	1	2	1	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172232698T>C	uc003fid.3	-	1	346	c.223A>G	c.(223-225)Agc>Ggc	p.S75G	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.S75G	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	75					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CAGCAGGGGCTGTTCATACTC	0.498													C	172232698	T	C	172232698	3	2	235	1	0	0	0	0	1	0	0	0	16401	1580	55	3	638	3	TNFSF10	3	172232698	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	120844925	172232698	25789732	17	16266											
SPATA16	83893	broad.mit.edu	37	chr3	172835032	172835032	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagaaagctgaaattatGtacactcaaagggtctacta	16	9	9	7	0	2	2	1	1	1	1	2	2	2	2	0	2	3	3	0	2	7	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr3:172835032G>C	uc003fin.4	-	1	674	c.490C>G	c.(490-492)Cat>Gat	p.H164D		NM_031955	NP_114161	Q9BXB7	SPT16_HUMAN	Homo sapiens spermatogenesis associated 16 (SPATA16), mRNA.	164					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			CTGAAATTATGTACACTCAAA	0.448													C	172835032	G	C	172835032	3	2	235	1	0	0	0	0	1	0	0	0	15097	1377	48	4	1259	4	SPATA16	3	172835032	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	602334	172835032	25187398	18	16267											
GABRA2	2555	broad.mit.edu	37	chr4	46252347	46252347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggactgacccctaatacaGgttctctgtttaaatatgta	13	13	7	8	0	1	1	0	1	1	0	2	2	1	2	2	2	1	3	2	2	7	7			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:46252347G>A	uc011bzc.1	-	9	1761	c.1349C>T	c.(1348-1350)cCt>cTt	p.P450L	GABRA2_uc003gxc.3_Missense_Mutation_p.P445L|GABRA2_uc010igc.2_Missense_Mutation_p.P445L			P47869	GBRA2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 2 (GABRA2), transcript variant 1, mRNA.	445					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V449V(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CCCTAATACAGGTTCTCTGTT	0.338													A	46252347	G	A	46252347	3	1	235	1	0	0	0	0	1	0	0	0	6213	1000	35	2	25	2	GABRA2	4	46252347	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		46252347	144901929	19	16268											
FAM175A	84142	broad.mit.edu	37	chr4	84388619	84388641	+	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TTGTAATGAAGCATACATTTCAT	-																															taacttacctttaattcctcTtgtaatgaagcatacatttc																										TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:84388619_84388641delTTGTAATGAAGCATACATTTCAT	uc003hou.2	-	6	712_734	c.647_669delATGAAATGTATGCTTCATTACAA	c.(646-669)aatgaaatgtatgcttcattacaafs	p.N216fs	FAM175A_uc003hot.2_Frame_Shift_Del_p.N44fs|FAM175A_uc003hov.2_Frame_Shift_Del_p.N107fs	NM_139076	NP_620775	Q6UWZ7	F175A_HUMAN	Homo sapiens family with sequence similarity 175, member A (FAM175A), mRNA.	216					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						TTAATTCCTCTTGTAATGAAGCATACATTTCATTTATCTTATG	0.309													-	84388641	TTGTAATGAAGCATACATTTCAT	-	84388619	7	5	235	1	0	1	0	1	0	0	0	0	5542	1606	56	0	572	0	FAM175A	4	84388619	Frame_Shift_Del	DEL	TTGTAATGAAGCATACATTTCAT	TCGA-32-4208-01A-01D-1353-08	38136272	84388619	106765657	20	16269											
SEC24B	10427	broad.mit.edu	37	chr4	110442579	110442579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctttgttttctcagcttAtaaaagacttactgaatgca	12	16	6	7	0	2	2	1	1	2	1	3	3	2	2	0	0	3	3	0	0	5	6			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:110442579A>G	uc003hzk.3	+	13	2360	c.2305A>G	c.(2305-2307)Ata>Gta	p.I769V	SEC24B_uc003hzl.3_Missense_Mutation_p.I734V|SEC24B_uc011cfp.2_Missense_Mutation_p.I799V|SEC24B_uc011cfq.2_Missense_Mutation_p.I768V|SEC24B_uc011cfr.2_Missense_Mutation_p.I733V	NM_006323	NP_006314	O95487	SC24B_HUMAN	Homo sapiens SEC24 family, member B (S. cerevisiae) (SEC24B), transcript variant 1, mRNA.	769					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		TTCTCAGCTTATAAAAGACTT	0.343													G	110442579	A	G	110442579	3	3	235	1	0	0	0	0	1	0	0	0	14088	449	16	3	2359	3	SEC24B	4	110442579	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	26053960	110442579	80711697	21	16270											
MYOZ2	51778	broad.mit.edu	37	chr4	120085521	120085521	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaagcctgaaggaaaggcaGaactgcctgattacaggagc	14	6	12	9	0	1	3	1	2	0	1	1	5	1	5	2	3	5	1	2	3	5	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr4:120085521G>C	uc003icp.4	+	4	745	c.532G>C	c.(532-534)Gaa>Caa	p.E178Q		NM_016599	NP_057683	Q9NPC6	MYOZ2_HUMAN	Homo sapiens myozenin 2 (MYOZ2), mRNA.	178							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						AGGAAAGGCAGAACTGCCTGA	0.418													C	120085521	G	C	120085521	3	2	235	1	0	0	0	0	1	0	0	0	10172	943	33	4	546	4	MYOZ2	4	120085521	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	9642942	120085521	71068755	22	16271											
PCDHAC2	56144	broad.mit.edu	37	chr5	140189035	140189035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatactcgcagcagaggAggccgagggtgtgctctggt	7	8	17	9	2	2	1	1	0	1	1	3	3	2	2	1	5	3	3	1	5	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:140189035A>G	uc003lhi.2	+	0	2364	c.2263A>G	c.(2263-2265)Agg>Ggg	p.R755G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Missense_Mutation_p.R755G|PCDHAC2_uc011daa.2_Missense_Mutation_p.R755G	NM_018907	NP_061730	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 4 (PCDHA4), transcript variant 1, mRNA.	792					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCAGAGGAGGCCGAGGGT	0.662													G	140189035	A	G	140189035	3	3	235	1	0	0	0	0	1	0	0	0	11609	295	11	3		3	PCDHAC2	5	140189035	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		140189035	40726225	23	16272											
CLK4	57396	broad.mit.edu	37	chr5	178040532	178040532	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtcaatttgaaatggCagaaagctgttttctttaat	12	16	9	4	0	2	2	1	1	1	1	2	2	2	2	0	2	1	3	0	2	4	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr5:178040532C>T	uc003mjf.1	-	6	876	c.768G>A	c.(766-768)ctG>ctA	p.L256L	CLK4_uc003mjg.1_Silent_p.L220L|CLK4_uc010jku.1_Silent_p.L76L|CLK4_uc003mjh.1_Silent_p.L76L|CLK4_uc010jkv.1_Non-coding_Transcript|CLK4_uc011dgg.1_Silent_p.L256L|CLK4_uc011dgh.1_Silent_p.L76L	NM_020666	NP_065717	Q9HAZ1	CLK4_HUMAN	Homo sapiens CDC-like kinase 4 (CLK4), mRNA.	256	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		TTTGAAATGGCAGAAAGCTGT	0.328													T	178040532	C	T	178040532	2	4	235	1	0	0	0	0	0	0	0	1	3570	697	25	2		2	CLK4	5	178040532	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	37851497	178040532	2874728	24	16273											
KIF13A	63971	broad.mit.edu	37	chr6	17831467	17831467	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttgtcgttgtctttcCtgtgcacaaaaacagacaaa	13	12	7	9	1	2	1	1	0	1	1	4	1	3	1	1	0	2	3	1	0	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:17831467C>A	uc003ncg.4	-	13	1427	c.1267_splice	c.e13-1	p.E423_splice	KIF13A_uc003ncf.3_Splice_Site_p.E423_splice|KIF13A_uc003nch.4_Splice_Site_p.E423_splice|KIF13A_uc003nci.4_Splice_Site_p.E423_splice|KIF13A_uc003ncj.3_Splice_Site_p.E99_splice	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	423					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTGTCTTTCCTGTGCACAAA	0.438													A	17831467	C	A	17831467	5	1	235	1	0	0	0	0	0	0	1	0	8332	695	24	4	4284	4	KIF13A	6	17831467	Splice_Site	SNP	C	TCGA-32-4208-01A-01D-1353-08		17831467	153283600	25	16274											
BTNL2	56244	broad.mit.edu	37	chr6	32370963	32370963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactctccccaggtcccTccatgtggatgctaggggca	6	9	10	16	0	1	0	0	0	1	0	5	1	4	1	5	4	1	2	5	4	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:32370963T>C	uc003obg.1	-	2	458	c.458A>G	c.(457-459)gAg>gGg	p.E153G	BTNL2_uc010jty.1_Intron|BTNL2_uc010jtz.1_Intron|BTNL2_uc010jua.1_Intron	NM_019602	NP_062548	Q9UIR0	BTNL2_HUMAN	Homo sapiens butyrophilin-like 2 (MHC class II associated) (BTNL2), mRNA.	153	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCCAGGTCCCTCCATGTGGAT	0.607													C	32370963	T	C	32370963	3	2	235	1	0	0	0	0	1	0	0	0	1575	1551	54	3	925	3	BTNL2	6	32370963	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08	14539496	32370963	138744104	26	16275											
DEF6	50619	broad.mit.edu	37	chr6	35280172	35280172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcccaggaggcccaggtgGcccagaccaccggggggctc	6	3	17	15	1	0	1	0	0	0	1	1	2	0	2	5	8	0	1	5	8	0	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:35280172G>A	uc003okk.3	+	3	556	c.517G>A	c.(517-519)Gcc>Acc	p.A173T	DEF6_uc010jvs.3_Missense_Mutation_p.A173T|DEF6_uc010jvt.3_Intron	NM_022047	NP_071330	Q9H4E7	DEFI6_HUMAN	Homo sapiens differentially expressed in FDCP 6 homolog (mouse) (DEF6), mRNA.	173						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGCCCAGGTGGCCCAGACCAC	0.647													A	35280172	G	A	35280172	3	1	235	1	0	0	0	0	1	0	0	0	4420	1203	42	2	531	2	DEF6	6	35280172	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	2909209	35280172	135834895	27	16276											
PKHD1	5314	broad.mit.edu	37	chr6	51799070	51799070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcagaaacaaggatggCgtgtgccctgagctcgatgg	11	7	13	10	2	1	2	1	1	0	1	2	4	1	3	2	3	3	1	2	3	2	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:51799070C>T	uc003pah.1	-	36	6235	c.5959G>A	c.(5959-5961)Gcc>Acc	p.A1987T	PKHD1_uc010jzn.1_Missense_Mutation_p.A12T|PKHD1_uc003pai.3_Missense_Mutation_p.A1987T	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1987	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.A1987T(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACAAGGATGGCGTGTGCCCTG	0.542											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	51799070	C	T	51799070	3	4	235	1	0	0	0	0	1	0	0	0	12048	768	27	1	6428	1	PKHD1	6	51799070	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	16518898	51799070	119315997	28	16277											
MTHFD1L	25902	broad.mit.edu	37	chr6	151336802	151336802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggctgcgagtaaaagaagCcgattccagttcctgtatga	12	9	12	8	2	0	2	0	1	0	1	2	5	2	2	3	1	2	4	3	1	4	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr6:151336802C>T	uc021zgs.1	+	23	2706	c.2562C>T	c.(2560-2562)agC>agT	p.S854S	MTHFD1L_uc011een.2_Non-coding_Transcript|MTHFD1L_uc003qob.3_Silent_p.S853S|MTHFD1L_uc021zgt.1_Silent_p.S788S|MTHFD1L_uc003qoc.3_Silent_p.S801S	NM_001242767	NP_001229696	Q6UB35	C1TM_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like (MTHFD1L), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	853	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		GTAAAAGAAGCCGATTCCAGT	0.493													T	151336802	C	T	151336802	2	4	235	1	0	0	0	0	0	0	0	1	10004	738	26	2		2	MTHFD1L	6	151336802	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	99537732	151336802	19778265	29	16278											
ADAP1	11033	broad.mit.edu	37	chr7	943765	943765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcgccagcacccacctTcccgtcctcatggtagatga	7	9	9	16	2	1	2	1	1	0	1	4	2	3	2	5	1	2	3	5	1	1	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:943765T>C	uc003sjo.4	-	5	839	c.646A>G	c.(646-648)Aag>Gag	p.K216E	ADAP1_uc003sjm.4_Missense_Mutation_p.K42E|ADAP1_uc011jvs.2_Missense_Mutation_p.K121E|ADAP1_uc003sjn.4_Missense_Mutation_p.K144E|ADAP1_uc010ksc.3_Missense_Mutation_p.K144E	NM_006869	NP_006860	O75689	ADAP1_HUMAN	Homo sapiens ArfGAP with dual PH domains 1 (ADAP1), mRNA.	216	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GCACCCACCTTCCCGTCCTCA	0.672													C	943765	T	C	943765	3	2	235	1	0	0	0	0	1	0	0	0	279	1792	62	3	502	3	ADAP1	7	943765	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		943765	158194898	30	16279											
ZMIZ2	83637	broad.mit.edu	37	chr7	44798997	44798997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctaccctgggcacaggctgCccctgcagcagggcatgacc	7	5	12	17	0	0	1	0	1	0	0	0	1	0	1	5	3	4	5	5	3	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:44798997C>T	uc003tlr.3	+	6	1054	c.931C>T	c.(931-933)Ccc>Tcc	p.P311S	ZMIZ2_uc003tlq.3_Missense_Mutation_p.P279S|ZMIZ2_uc003tls.3_Missense_Mutation_p.P311S|ZMIZ2_uc003tlt.3_5'Flank|ZMIZ2_uc010kyj.3_5'Flank	NM_031449	NP_113637	Q8NF64	ZMIZ2_HUMAN	Homo sapiens zinc finger, MIZ-type containing 2 (ZMIZ2), transcript variant 1, mRNA.	311	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCACAGGCTGCCCCTGCAGCA	0.687													T	44798997	C	T	44798997	3	4	235	1	0	0	0	0	1	0	0	0	17798	739	26	2	953	2	ZMIZ2	7	44798997	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	43855232	44798997	114339666	31	16280											
CLIP2	7461	broad.mit.edu	37	chr7	73790959	73790959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaactggacgtggagtaccGgggccaggcgcaggctatcg	10	5	16	10	4	0	0	0	0	0	0	1	2	0	2	2	6	2	3	2	6	4	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:73790959G>C	uc003uam.3	+	9	2555	c.2228G>C	c.(2227-2229)cGg>cCg	p.R743P	CLIP2_uc003uan.3_Missense_Mutation_p.R708P|CLIP2_uc003uao.3_Missense_Mutation_p.R137P	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	743						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GTGGAGTACCGGGGCCAGGCG	0.657													C	73790959	G	C	73790959	3	2	235	1	0	0	0	0	1	0	0	0	3564	1116	39	4	2262	4	CLIP2	7	73790959	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	28991962	73790959	85347704	32	16281											
OPN1SW	611	broad.mit.edu	37	chr7	128415066	128415066	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaagaagggtgggatGgagacgccaataccaatggt	14	5	14	8	1	0	2	0	0	0	2	0	4	0	3	3	4	2	0	3	4	5	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:128415066G>T	uc003vnt.4	-	1	495	c.495C>A	c.(493-495)tcC>tcA	p.S165S		NM_001708	NP_001699	P03999	OPSB_HUMAN	Homo sapiens opsin 1 (cone pigments), short-wave-sensitive (OPN1SW), mRNA.	165					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						AGGGTGGGATGGAGACGCCAA	0.552													T	128415066	G	T	128415066	2	4	235	1	0	0	0	0	0	0	0	1	10956	1335	47	4		4	OPN1SW	7	128415066	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	54624107	128415066	30723597	33	16282											
ABCF2	10061	broad.mit.edu	37	chr7	150915908	150915908	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcgtcttctccttgctctGggcctgccgggccagcttgg	2	12	13	14	2	3	0	0	0	3	0	4	0	3	0	4	3	4	2	4	3	1	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr7:150915908G>A	uc003wjo.1	-	8	1180	c.1069C>T	c.(1069-1071)Cag>Tag	p.Q357*	ABCF2_uc003wjp.3_Nonsense_Mutation_p.Q357*	NM_005692	NP_005683	Q9UG63	ABCF2_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 2 (ABCF2), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	357						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTTGCTCTGGGCCTGCCGG	0.527													A	150915908	G	A	150915908	4	1	235	1	0	0	0	0	0	1	0	0	66	1357	47	2	871	2	ABCF2	7	150915908	Nonsense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	22500842	150915908	8222755	34	16283											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730590	37730590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccatgtcccaattcagagGggacagatgcctggccagag	11	6	12	12	0	1	3	1	0	0	3	2	4	2	4	4	3	1	0	4	3	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:37730590G>T	uc003xkm.2	-	3	1786	c.1730C>A	c.(1729-1731)cCc>cAc	p.P577H	RAB11FIP1_uc003xkn.2_Intron|RAB11FIP1_uc003xkl.2_5'UTR|RAB11FIP1_uc003xko.1_5'UTR|RAB11FIP1_uc003xkp.1_Intron	NM_001002814	NP_001002814	Q6WKZ4	RFIP1_HUMAN	Homo sapiens RAB11 family interacting protein 1 (class I) (RAB11FIP1), transcript variant 3, mRNA.	577	Ser-rich.				protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CAATTCAGAGGGGACAGATGC	0.557													T	37730590	G	T	37730590	3	4	235	1	0	0	0	0	1	0	0	0	12981	1232	43	4	2133	4	RAB11FIP1	8	37730590	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		37730590	108633432	35	16284											
RALYL	138046	broad.mit.edu	37	chr8	85774532	85774532	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatttgtgttttgtaaaggTtatttgattaccacgggcgt	8	17	10	6	2	0	1	0	1	0	0	0	1	0	1	2	2	1	3	2	2	4	7			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:85774532T>C	uc003yct.4	+	6	587	c.453_splice	c.e6-1	p.R151_splice	RALYL_uc003ycq.4_Splice_Site_p.R138_splice|RALYL_uc003ycr.4_Splice_Site_p.R138_splice|RALYL_uc003ycs.4_Splice_Site_p.R138_splice|RALYL_uc010lzy.3_Splice_Site_p.R127_splice|RALYL_uc003ycu.4_Splice_Site_p.R65_splice	NM_001100391	NP_776247	Q86SE5	RALYL_HUMAN	Homo sapiens RALY RNA binding protein-like (RALYL), transcript variant 1, mRNA.	138							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TTTGTAAAGGTTATTTGATTA	0.473													C	85774532	T	C	85774532	2	2	235	1	0	0	0	0	0	0	0	1	13108	1739	60	3		3	RALYL	8	85774532	Silent	SNP	T	TCGA-32-4208-01A-01D-1353-08	48043942	85774532	60589490	36	16285											
PLEC	5339	broad.mit.edu	37	chr8	144991998	144991998	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcttgtccttgaactcgggGcccacaatgcccatacgcac	9	8	9	15	2	0	1	0	1	0	0	2	1	1	1	3	2	4	2	3	2	3	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr8:144991998G>C	uc003zaf.1	-	31	12572	c.12402C>G	c.(12400-12402)ggC>ggG	p.G4134G	PLEC_uc003zab.1_Silent_p.G3997G|PLEC_uc003zac.1_Silent_p.G4001G|PLEC_uc003zad.2_Silent_p.G3997G|PLEC_uc003zae.1_Silent_p.G3965G|PLEC_uc003zag.1_Silent_p.G3975G|PLEC_uc003zah.2_Silent_p.G3983G|PLEC_uc003zaj.2_Silent_p.G4024G	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4134	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAACTCGGGGCCCACAATGC	0.622													C	144991998	G	C	144991998	2	2	235	1	0	0	0	0	0	0	0	1	12129	1190	42	4		4	PLEC	8	144991998	Silent	SNP	G	TCGA-32-4208-01A-01D-1353-08	59217466	144991998	1372024	37	16286											
UNC13B	10497	broad.mit.edu	37	chr9	35386179	35386179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtacaagaactgcaaagCcctccaagagccagccaggt	14	4	10	13	0	0	2	0	0	0	2	1	2	1	2	4	2	6	2	4	2	5	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:35386179C>T	uc003zwr.3	+	22	3028	c.2736C>T	c.(2734-2736)agC>agT	p.S912S	UNC13B_uc003zwq.3_Silent_p.S912S	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	912					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AACTGCAAAGCCCTCCAAGAG	0.483													T	35386179	C	T	35386179	2	4	235	1	0	0	0	0	0	0	0	1	17087	738	26	2		2	UNC13B	9	35386179	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08		35386179	105827252	38	16287											
ZNF658	26149	broad.mit.edu	37	chr9	40772547	40772547	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacattcactgcattcatAgggtttctcccctgagcgag	8	11	8	14	1	3	1	2	1	1	0	4	2	3	1	3	1	2	2	3	1	1	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr9:40772547A>C	uc004abs.2	-	4	2880	c.2728T>G	c.(2728-2730)Tat>Gat	p.Y910D	ZNF658_uc010mmm.2_Intron|ZNF658_uc010mmn.1_Missense_Mutation_p.Y910D	NM_033160	NP_149350	Q5TYW1	ZN658_HUMAN	Homo sapiens zinc finger protein 658 (ZNF658), mRNA.	910					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		CTGCATTCATAGGGTTTCTCC	0.448													C	40772547	A	C	40772547	3	2	235	1	0	0	0	0	1	0	0	0	18170	420	15	5	455	5	ZNF658	9	40772547	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	5386368	40772547	100440884	39	16288											
ANKRD16	54522	broad.mit.edu	37	chr10	5929963	5929963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcaggagtggattggCgccatgttccaccagctcct	6	12	11	12	1	2	0	1	0	1	0	4	2	4	2	4	3	1	3	4	3	0	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:5929963C>T	uc010qat.2	-	1	925	c.382G>A	c.(382-384)Gcc>Acc	p.A128T	ANKRD16_uc009xie.3_Missense_Mutation_p.A128T|ANKRD16_uc009xif.3_Missense_Mutation_p.A128T|ANKRD16_uc001iiq.3_Missense_Mutation_p.A128T|FBXO18_uc001iir.3_5'Flank|FBXO18_uc001iis.3_5'Flank|FBXO18_uc009xig.3_5'Flank	NM_019046	NP_061919	Q6P6B7	ANR16_HUMAN	Homo sapiens ankyrin repeat domain 16 (ANKRD16), transcript variant 1, mRNA.	128			A -> G (in dbSNP:rs2296136).					p.A128G(1)|p.G127G(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						AGTGGATTGGCGCCATGTTCC	0.552													T	5929963	C	T	5929963	3	4	235	1	0	0	0	0	1	0	0	0	645	768	27	1	727	1	ANKRD16	10	5929963	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		5929963	129604784	40	16289											
ERCC6	2074	broad.mit.edu	37	chr10	50690763	50690763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatttgaatatcccccCatggtgatggggacggagaa	12	8	13	8	1	0	3	0	2	0	1	1	6	1	4	3	4	1	1	3	4	4	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:50690763C>T	uc001jhs.4	-	9	2293	c.2139G>A	c.(2137-2139)atG>atA	p.M713I	ERCC6_uc010qgr.2_Missense_Mutation_p.M83I|ERCC6_uc001jhr.4_Missense_Mutation_p.M113I	NM_000124	NP_000115	Q03468	ERCC6_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 6 (ERCC6), mRNA.	713					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	p.M713T(1)		breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATATCCCCCCATGGTGATGG	0.408								Direct reversal of damage;Nucleotide excision repair (NER)					T	50690763	C	T	50690763	3	4	235	1	0	0	0	0	1	0	0	0	5258	594	21	2	2390	2	ERCC6	10	50690763	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	44760800	50690763	84843984	41	16290											
HECTD2	143279	broad.mit.edu	37	chr10	93244394	93244394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggattccatcagccgctAaagtgttggctttacttagt	8	14	11	8	1	1	0	1	0	0	0	2	1	2	1	2	3	2	3	2	3	4	6			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr10:93244394A>G	uc010qnm.1	+	9	1064	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	LOC100188947_uc010qnl.2_Intron|HECTD2_uc001khl.2_Missense_Mutation_p.K318E|HECTD2_uc001khm.2_Non-coding_Transcript|HECTD2_uc009xty.1_5'UTR|HECTD2_uc001khn.1_5'UTR	NM_182765	NP_877497	Q5U5R9	HECD2_HUMAN	Homo sapiens HECT domain containing 2 (HECTD2), transcript variant 1, mRNA.	318					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCAGCCGCTAAAGTGTTGGC	0.333													G	93244394	A	G	93244394	3	3	235	1	0	0	0	0	1	0	0	0	7095	363	13	3	1010	3	HECTD2	10	93244394	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	42553631	93244394	42290353	42	16291											
NUP98	4928	broad.mit.edu	37	chr11	3744479	3744479	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttcttcactgcttcctTccagcccatttcgcaaagca	8	13	5	15	2	2	0	1	0	1	0	5	0	4	0	3	0	3	4	3	0	1	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:3744479T>C	uc001lyh.3	-	15	2475	c.2054A>G	c.(2053-2055)gAa>gGa	p.E685G	NUP98_uc001lyi.3_Missense_Mutation_p.E685G|NUP98_uc001lyj.2_Missense_Mutation_p.E685G|NUP98_uc001lyk.2_Missense_Mutation_p.E702G	NM_016320	NP_057404	P52948	NUP98_HUMAN	Homo sapiens nucleoporin 98kDa (NUP98), transcript variant 1, mRNA.	702					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		ACTGCTTCCTTCCAGCCCATT	0.433			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								C	3744479	T	C	3744479	3	2	235	1	0	0	0	0	1	0	0	0	10849	1783	62	3	3441	3	NUP98	11	3744479	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		3744479	131262037	43	16292											
GALNTL4	374378	broad.mit.edu	37	chr11	11470460	11470460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgaagggctcggcctctgCctcctcaggcttggcaggag	5	9	15	12	1	2	1	1	1	1	0	4	2	3	2	3	5	1	3	3	5	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:11470460C>T	uc001mjo.2	-	1	680	c.259G>A	c.(259-261)Gca>Aca	p.A87T		NM_198516	NP_940918	Q6P9A2	GLTL4_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 4 (GALNTL4), mRNA.	87						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26				all cancers(16;3.67e-05)|Epithelial(150;0.000184)		TCGGCCTCTGCCTCCTCAGGC	0.602													T	11470460	C	T	11470460	3	4	235	1	0	0	0	0	1	0	0	0	6277	739	26	2	1604	2	GALNTL4	11	11470460	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	7725981	11470460	123536056	44	16293											
CDC42BPG	55561	broad.mit.edu	37	chr11	64602005	64602005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagctccagcctggcCgaggcctccatcttctgcag	6	8	11	16	1	2	0	0	0	2	0	4	2	4	0	5	2	4	3	5	2	0	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:64602005C>T	uc001obs.4	-	18	2220	c.2220G>A	c.(2218-2220)tcG>tcA	p.S740S		NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN	Homo sapiens CDC42 binding protein kinase gamma (DMPK-like) (CDC42BPG), mRNA.	740					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						CCAGCCTGGCCGAGGCCTCCA	0.672													T	64602005	C	T	64602005	2	4	235	1	0	0	0	0	0	0	0	1	3104	639	23	1		1	CDC42BPG	11	64602005	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	53131545	64602005	70404511	45	16294											
CREBZF	58487	broad.mit.edu	37	chr11	85375510	85375510	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccacaggccgccgctatccGagcctccgccagacgaggag	8	4	12	17	5	0	1	0	0	0	1	3	4	3	2	7	2	1	1	7	2	1	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr11:85375510G>C	uc001pas.2	-	0	673	c.410C>G	c.(409-411)tCg>tGg	p.S137W	CREBZF_uc010rtd.1_Non-coding_Transcript|CREBZF_uc010rtc.1_Non-coding_Transcript	NM_001039618	NP_001034707	Q9NS37	ZHANG_HUMAN	Homo sapiens CREB/ATF bZIP transcription factor (CREBZF), transcript variant 1, mRNA.	137					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				GCCGCTATCCGAGCCTCCGCC	0.657													C	85375510	G	C	85375510	3	2	235	1	0	0	0	0	1	0	0	0	3894	1059	37	4	658	4	CREBZF	11	85375510	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	20773505	85375510	49631006	46	16295											
C12orf60	144608	broad.mit.edu	37	chr12	14975979	14975979	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacacactgactgaattgtTtagccgcagtatgaatactc	14	11	7	9	1	0	3	0	3	0	0	1	3	0	3	1	0	3	3	1	0	6	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:14975979T>G	uc001rcj.4	+	1	314	c.110T>G	c.(109-111)tTt>tGt	p.F37C	C12orf60_uc021qvq.1_Missense_Mutation_p.F37C	NM_175874	NP_787070	Q5U649	CL060_HUMAN	Homo sapiens chromosome 12 open reading frame 60 (C12orf60), mRNA.	37										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ACTGAATTGTTTAGCCGCAGT	0.343													G	14975979	T	G	14975979	3	3	235	1	0	0	0	0	1	0	0	0	1716	1841	64	5	112	5	C12orf60	12	14975979	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		14975979	118875916	47	16296											
LEMD3	23592	broad.mit.edu	37	chr12	65632357	65632357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatggaaaagatgttggaAtaaggtaaaggatctgattt	18	11	11	1	0	1	2	0	1	1	1	1	5	1	5	0	4	0	2	0	4	8	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:65632357A>G	uc001ssl.2	+	4	1797	c.1771A>G	c.(1771-1773)Ata>Gta	p.I591V	LEMD3_uc009zqo.2_Missense_Mutation_p.I590V	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	591					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		AGATGTTGGAATAAGGTAAAG	0.313													G	65632357	A	G	65632357	3	3	235	1	0	0	0	0	1	0	0	0	8780	101	4	3	1789	3	LEMD3	12	65632357	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	50656378	65632357	68219538	48	16297											
ANO4	121601	broad.mit.edu	37	chr12	101480543	101480543	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taatcaggaataactctcagGttgcaaccacagggactgct	13	9	9	10	0	2	0	2	0	1	0	3	2	2	2	1	3	4	3	1	3	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr12:101480543G>C	uc010svm.1	+	16	2214	c.1642G>C	c.(1642-1644)Gtt>Ctt	p.V548L	ANO4_uc001thw.2_Missense_Mutation_p.V513L|ANO4_uc001thx.2_Missense_Mutation_p.V548L|ANO4_uc001thy.2_Missense_Mutation_p.V68L	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	548						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TAACTCTCAGGTTGCAACCAC	0.493										HNSCC(74;0.22)			C	101480543	G	C	101480543	3	2	235	1	0	0	0	0	1	0	0	0	699	1261	44	4	1595	4	ANO4	12	101480543	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	35848186	101480543	32371352	49	16298											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20233374	20233374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgtgaaaaatggggattAtattactgtaaaagttgcac	14	13	10	4	0	0	1	0	1	0	0	0	2	0	2	0	2	3	4	0	2	7	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:20233374A>G	uc001umh.3	+	6	1837	c.1736A>G	c.(1735-1737)tAt>tGt	p.Y579C	MPHOSPH8_uc001umg.3_Missense_Mutation_p.Y579C	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	579					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AATGGGGATTATATTACTGTA	0.284													G	20233374	A	G	20233374	3	3	235	1	0	0	0	0	1	0	0	0	9803	449	16	3	1762	3	MPHOSPH8	13	20233374	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		20233374	94936504	50	16299											
PAN3	255967	broad.mit.edu	37	chr13	28794497	28794497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccatgggaagccctgctActgctggattagcgccaggt	8	9	12	12	1	0	0	0	0	0	0	1	2	1	2	3	3	5	2	3	3	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:28794497A>G	uc001urz.3	+	5	1134	c.982A>G	c.(982-984)Act>Gct	p.T328A	PAN3_uc010tdo.1_Missense_Mutation_p.T328A|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.T128A	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	328	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity	p.R327C(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AAGCCCTGCTACTGCTGGATT	0.438													G	28794497	A	G	28794497	3	3	235	1	0	0	0	0	1	0	0	0	11491	391	14	3	1004	3	PAN3	13	28794497	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	8561123	28794497	86375381	51	16300											
FRY	10129	broad.mit.edu	37	chr13	32808846	32808846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcacatgccttatctgAccttctctcaagattggtgg	8	13	9	11	0	4	2	2	1	2	1	5	2	4	2	2	2	2	1	2	2	2	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:32808846A>G	uc001utx.3	+	41	6159	c.5663A>G	c.(5662-5664)gAc>gGc	p.D1888G	FRY_uc010tdw.2_Non-coding_Transcript	NM_023037	NP_075463	Q5TBA9	FRY_HUMAN	Homo sapiens furry homolog (Drosophila) (FRY), mRNA.	1888					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GCCTTATCTGACCTTCTCTCA	0.517													G	32808846	A	G	32808846	3	3	235	1	0	0	0	0	1	0	0	0	6115	275	10	3	5829	3	FRY	13	32808846	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	4014349	32808846	82361032	52	16301											
RAP2A	5911	broad.mit.edu	37	chr13	98086962	98086962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacggccagggcttcatcCtcgtctacagcctcgtcaac	9	8	9	15	3	3	1	2	0	1	1	6	1	4	1	3	2	4	1	3	2	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr13:98086962C>G	uc001vnd.3	+	0	488	c.238C>G	c.(238-240)Ctc>Gtc	p.L80V		NM_021033	NP_066361	P10114	RAP2A_HUMAN	Homo sapiens RAP2A, member of RAS oncogene family (RAP2A), mRNA.	80					actin cytoskeleton reorganization|cellular protein localization|establishment of protein localization|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of dendrite morphogenesis|regulation of JNK cascade	recycling endosome membrane	GTP binding|GTPase activity|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.166)			GGGCTTCATCCTCGTCTACAG	0.632													G	98086962	C	G	98086962	3	3	235	1	0	0	0	0	1	0	0	0	13128	681	24	4	240	4	RAP2A	13	98086962	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	65278116	98086962	17082916	53	16302											
OSGEP	55644	broad.mit.edu	37	chr14	20922812	20922812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgccaatcttattggCgctgccttcaaaacccagca	10	8	7	16	2	2	0	1	0	1	0	2	0	2	0	4	1	3	2	4	1	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:20922812C>T	uc001vxf.3	-	0	456	c.31G>A	c.(31-33)Gcc>Acc	p.A11T	APEX1_uc001vxg.3_5'Flank|APEX1_uc001vxh.3_5'Flank|APEX1_uc001vxi.3_5'Flank|APEX1_uc021rnr.1_5'Flank	NM_017807	NP_060277	Q9NPF4	OSGEP_HUMAN	Homo sapiens O-sialoglycoprotein endopeptidase (OSGEP), mRNA.	11					proteolysis|tRNA processing		metal ion binding|metalloendopeptidase activity|protein binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(4)|stomach(1)	11	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0231)|READ - Rectum adenocarcinoma(17;0.196)		ATCTTATTGGCGCTGCCTTCA	0.632													T	20922812	C	T	20922812	3	4	235	1	0	0	0	0	1	0	0	0	11363	768	27	1	1020	1	OSGEP	14	20922812	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		20922812	86426728	54	16303											
C14orf166B	145497	broad.mit.edu	37	chr14	77292858	77292858	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgcacatccaattcccatCaaagcctactcttcccaggg	11	9	5	16	0	2	0	1	0	1	0	5	0	5	0	4	1	3	1	4	1	3	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr14:77292858C>G	uc001xsx.2	+	0	134	c.20C>G	c.(19-21)tCa>tGa	p.S7*	C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_Non-coding_Transcript|C14orf166B_uc010aso.1_Non-coding_Transcript|C14orf166B_uc010tvg.1_Non-coding_Transcript	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Homo sapiens chromosome 14 open reading frame 166B (C14orf166B), mRNA.	7										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		CAATTCCCATCAAAGCCTACT	0.547													G	77292858	C	G	77292858	4	3	235	1	0	0	0	0	0	1	0	0	1770	838	29	4	22	4	C14orf166B	14	77292858	Nonsense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	56370046	77292858	30056682	55	16304											
HERC2	8924	broad.mit.edu	37	chr15	28474893	28474893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaaattcagcaattgtaCtgaggagtggagactgcgga	12	8	15	6	1	1	2	1	1	0	1	1	5	1	4	0	4	3	3	0	4	3	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:28474893C>A	uc001zbj.3	-	31	5016	c.4910G>T	c.(4909-4911)aGt>aTt	p.S1637I		NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	1637					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGCAATTGTACTGAGGAGTGG	0.428													A	28474893	C	A	28474893	3	1	235	1	0	0	0	0	1	0	0	0	7113	565	20	4	9842	4	HERC2	15	28474893	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		28474893	74056499	56	16305											
MYO1E	4643	broad.mit.edu	37	chr15	59502739	59502739	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctctatgaggtcacataCgattttattattaaagtact	12	17	6	6	1	2	1	1	1	1	0	3	2	2	1	0	1	2	2	0	1	7	8			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr15:59502739C>G	uc002aga.3	-	12	1708	c.1336G>C	c.(1336-1338)Gta>Cta	p.V446L		NM_004998	NP_004989	Q12965	MYO1E_HUMAN	Homo sapiens myosin IE (MYO1E), mRNA.	446	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity	p.I445I(1)		breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		AGGTCACATACGATTTTATTA	0.348													G	59502739	C	G	59502739	3	3	235	1	0	0	0	0	1	0	0	0	10148	536	19	4	2054	4	MYO1E	15	59502739	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	31027846	59502739	43028653	57	16306											
C16orf59	80178	broad.mit.edu	37	chr16	2512205	2512205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccacggatgccgccgctGccaaaacccagttcctccag	9	7	8	17	3	0	0	0	0	0	0	3	1	3	1	7	1	3	2	7	1	2	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:2512205G>A	uc002cqh.3	+	5	746	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	C16orf59_uc002cqg.2_Missense_Mutation_p.A72T|C16orf59_uc002cqi.3_Missense_Mutation_p.A72T|C16orf59_uc010uwb.2_Missense_Mutation_p.A72T	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	239										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				TGCCGCCGCTGCCAAAACCCA	0.612													A	2512205	G	A	2512205	3	1	235	1	0	0	0	0	1	0	0	0	1837	1319	46	2	737	2	C16orf59	16	2512205	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		2512205	87842548	58	16307											
TMC5	79838	broad.mit.edu	37	chr16	19477522	19477522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcttcacaatcggagcatGcttgaccacctgcttcttca	9	12	6	14	1	4	1	2	1	2	0	5	2	4	2	2	1	3	3	2	1	1	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:19477522G>A	uc002dgc.4	+	8	2353	c.1604G>A	c.(1603-1605)tGc>tAc	p.C535Y	TMC5_uc010vaq.2_Missense_Mutation_p.C535Y|TMC5_uc002dgb.4_Missense_Mutation_p.C535Y|TMC5_uc010var.2_Missense_Mutation_p.C535Y|TMC5_uc002dgd.1_Missense_Mutation_p.C289Y|TMC5_uc002dge.4_Missense_Mutation_p.C289Y|TMC5_uc002dgf.4_Missense_Mutation_p.C218Y|TMC5_uc002dgg.4_Missense_Mutation_p.C176Y	NM_001105248	NP_001098718	Q6UXY8	TMC5_HUMAN	Homo sapiens transmembrane channel-like 5 (TMC5), transcript variant 1, mRNA.	535						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ATCGGAGCATGCTTGACCACC	0.458													A	19477522	G	A	19477522	3	1	235	1	0	0	0	0	1	0	0	0	16088	1319	46	2	1944	2	TMC5	16	19477522	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	16965317	19477522	70877231	59	16308											
SCNN1B	6338	broad.mit.edu	37	chr16	23360058	23360058	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatcatctgtgaggggccCaagaagaaagccatgtggtt	11	8	13	9	1	2	3	1	1	1	2	2	3	2	3	2	3	1	2	2	3	3	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr16:23360058C>A	uc002dln.3	+	1	314	c.138C>A	c.(136-138)ccC>ccA	p.P46P		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	46					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTGAGGGGCCCAAGAAGAAAG	0.612													A	23360058	C	A	23360058	2	1	235	1	0	0	0	0	0	0	0	1	14021	581	21	4		4	SCNN1B	16	23360058	Silent	SNP	C	TCGA-32-4208-01A-01D-1353-08	3882536	23360058	66994695	60	16309											
OR1A2	26189	broad.mit.edu	37	chr17	3101531	3101531	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaagccttctgcacctGtggctcccacctcacagttg	8	11	7	15	0	3	0	2	0	1	0	4	0	4	0	4	1	2	3	4	1	1	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:3101531G>C	uc002fvd.1	+	0	719	c.719G>C	c.(718-720)tGt>tCt	p.C240S		NM_012352	NP_036484	Q9Y585	OR1A2_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily A, member 2 (OR1A2), mRNA.	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTGCACCTGTGGCTCCCAC	0.438													C	3101531	G	C	3101531	3	2	235	1	0	0	0	0	1	0	0	0	11026	1377	48	4	721	4	OR1A2	17	3101531	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		3101531	78093679	61	16310											
DLG4	1742	broad.mit.edu	37	chr17	7099833	7099833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcgtgaccgtctgacccGcattcttcagggcaatggca	8	10	11	12	3	3	3	1	3	2	0	4	3	3	3	2	2	0	3	2	2	1	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7099833G>A	uc010vtn.2	-	8	1225	c.965C>T	c.(964-966)gCg>gTg	p.A322V	DLG4_uc010vtm.2_Non-coding_Transcript|DLG4_uc010cly.3_Missense_Mutation_p.A379V|DLG4_uc002get.4_Missense_Mutation_p.A425V|DLG4_uc010vto.2_Missense_Mutation_p.A422V	NM_001128827	NP_001122299	P78352	DLG4_HUMAN	Homo sapiens discs, large homolog 4 (Drosophila) (DLG4), transcript variant 2, mRNA.	382	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CGTCTGACCCGCATTCTTCAG	0.542													A	7099833	G	A	7099833	3	1	235	1	0	0	0	0	1	0	0	0	4596	1087	38	1	1073	1	DLG4	17	7099833	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	3998302	7099833	74095377	62	16311											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:7578406C>T	uc002gim.2	-	4	718	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_uc002gig.1_Missense_Mutation_p.R175H|TP53_uc002gih.3_Missense_Mutation_p.R175H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R43H|TP53_uc010cnf.1_Missense_Mutation_p.R43H|TP53_uc002gii.1_Missense_Mutation_p.R43H|TP53_uc010cni.1_Missense_Mutation_p.R175H|TP53_uc010cnh.1_Missense_Mutation_p.R175H|TP53_uc002gij.2_Missense_Mutation_p.R175H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R82H|TP53_uc002gio.2_Missense_Mutation_p.R43H|TP53_uc010vug.2_Missense_Mutation_p.R136H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(1654)|p.R175L(38)|p.R43H(36)|p.R82H(36)|p.R175G(15)|p.R175C(15)|p.R175P(12)|p.R174W(10)|p.0?(8)|p.R175S(6)|p.R175_E180delRCPHHE(6)|p.R175R(4)|p.R174fs*24(4)|p.R174fs*73(4)|p.R174K(4)|p.R174fs*1(4)|p.R175fs*5(3)|p.V157_C176del20(2)|p.R174_H178>S(2)|p.V172_E180delVVRRCPHHE(2)|p.R174_H179delRRCPHH(2)|p.R175_H178>X(2)|p.R174_C176delRRC(2)|p.R174S(2)|p.V173fs*59(2)|p.R174R(2)|p.R174fs*70(2)|p.E171_H179delEVVRRCPHH(2)|p.R174_E180>K(2)|p.R174M(2)|p.R174fs*3(2)|p.K164_P219del(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.E171fs*1(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174G(1)|p.R81fs*24(1)|p.R174fs*7(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	235	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	478573	7578406	73616804	63	16312											
KCNH6	81033	broad.mit.edu	37	chr17	61613357	61613357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagcagcctcaccagcGtgggcttcggcaatgtctcg	6	9	11	15	3	3	0	2	0	1	0	5	0	3	0	3	2	3	3	3	2	1	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:61613357G>A	uc002jay.3	+	5	1509	c.1429G>A	c.(1429-1431)Gtg>Atg	p.V477M	KCNH6_uc002jax.1_Missense_Mutation_p.V477M|KCNH6_uc010wpl.2_Missense_Mutation_p.V354M|KCNH6_uc010wpm.2_Missense_Mutation_p.V477M|KCNH6_uc002jaz.1_Missense_Mutation_p.V424M	NM_030779	NP_110406	Q9H252	KCNH6_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 6 (KCNH6), transcript variant 1, mRNA.	477					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CCTCACCAGCGTGGGCTTCGG	0.602													A	61613357	G	A	61613357	3	1	235	1	0	0	0	0	1	0	0	0	8094	1145	40	1	1451	1	KCNH6	17	61613357	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	54034951	61613357	19581853	64	16313											
FAM20A	54757	broad.mit.edu	37	chr17	66551780	66551780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgggagtagagcccatggCggttaatacccaggtggaac	11	6	14	10	2	0	1	0	0	0	1	0	3	0	3	3	5	3	2	3	5	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr17:66551780C>T	uc002jho.3	-	1	797	c.509G>A	c.(508-510)cGc>cAc	p.R170H	FAM20A_uc010wqp.2_Missense_Mutation_p.R32H|FAM20A_uc002jhn.3_5'UTR	NM_017565	NP_001230675	Q96MK3	FA20A_HUMAN	Homo sapiens family with sequence similarity 20, member A (FAM20A), transcript variant 1, mRNA.	170						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GAGCCCATGGCGGTTAATACC	0.562													T	66551780	C	T	66551780	3	4	235	1	0	0	0	0	1	0	0	0	5584	768	27	1	1156	1	FAM20A	17	66551780	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	4938423	66551780	14643430	65	16314											
DSC2	1824	broad.mit.edu	37	chr18	28654745	28654745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggataggctcatcaggatCaaccgcaacaatctccgcag	13	7	9	12	2	4	0	3	0	1	0	5	2	4	2	2	3	2	3	2	3	4	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:28654745C>G	uc002kwl.4	-	11	2246	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	DSC2_uc002kwk.4_Missense_Mutation_p.D598H	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	598	Cadherin 5.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCATCAGGATCAACCGCAACA	0.428													G	28654745	C	G	28654745	3	3	235	1	0	0	0	0	1	0	0	0	4805	826	29	4	973	4	DSC2	18	28654745	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08		28654745	49422503	66	16315											
GALNT1	2589	broad.mit.edu	37	chr18	33234759	33234759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagagaggacttcctgctGgagatggtgagtgacatttt	10	11	15	5	0	0	4	0	2	0	2	1	8	1	6	1	4	1	1	1	4	0	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr18:33234759G>A	uc010dmu.3	+	1	186	c.133G>A	c.(133-135)Gga>Aga	p.G45R	GALNT1_uc002kyz.4_5'UTR|GALNT1_uc002kza.2_Missense_Mutation_p.G45R|GALNT1_uc002kzb.3_Missense_Mutation_p.G45R	NM_020474	NP_065207	Q10472	GALT1_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1) (GALNT1), mRNA.	45					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						ACTTCCTGCTGGAGATGGTGA	0.338													A	33234759	G	A	33234759	3	1	235	1	0	0	0	0	1	0	0	0	6261	1349	47	2	135	2	GALNT1	18	33234759	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	4580014	33234759	44842489	67	16316											
APC2	10297	broad.mit.edu	37	chr19	1468647	1468647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacacagaagaccacgcccGgggtgccagctgtgctccgg	8	4	14	15	3	0	2	0	0	0	2	1	2	1	2	4	3	3	3	4	3	1	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:1468647G>A	uc002lsr.1	+	14	5555	c.5347G>A	c.(5347-5349)Ggg>Agg	p.G1783R	APC2_uc002lss.1_Missense_Mutation_p.G1365R|APC2_uc002lst.1_Missense_Mutation_p.G1783R|APC2_uc002lsu.1_Missense_Mutation_p.G1782R|C19orf25_uc010xgn.1_Intron	NM_005883	NP_005874	O95996	APC2_HUMAN	Homo sapiens adenomatosis polyposis coli 2 (APC2), mRNA.	1783	Pro-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GACCACGCCCGGGGTGCCAGC	0.721													A	1468647	G	A	1468647	3	1	235	1	0	0	0	0	1	0	0	0	766	1116	39	1	5401	1	APC2	19	1468647	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08		1468647	57660336	68	16317											
CDC37	11140	broad.mit.edu	37	chr19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccacctttaggctcttggCcagctccaggataaattgca	9	11	9	12	0	1	0	0	0	1	0	3	1	3	1	4	3	2	3	4	3	3	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:10505756C>T	uc002mof.1	-	4	783	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065	NP_008996	Q16543	CDC37_HUMAN	Homo sapiens cell division cycle 37 homolog (S. cerevisiae) (CDC37), mRNA.	223					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592													T	10505756	C	T	10505756	3	4	235	1	0	0	0	0	1	0	0	0	3098	739	26	2	485	2	CDC37	19	10505756	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	9037109	10505756	48623227	69	16318											
FAM129C	199786	broad.mit.edu	37	chr19	17649991	17649991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaggcccctgctgcccggGccttcctggacgccgtccga	3	6	13	19	4	0	0	0	0	0	0	2	2	2	1	8	3	2	1	8	3	0	1			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:17649991G>A	uc021uqj.1	+	6	859	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	FAM129C_uc021uqi.1_Missense_Mutation_p.A241T|FAM129C_uc002ngy.4_5'UTR|FAM129C_uc010xpu.2_5'UTR|FAM129C_uc002ngz.4_Non-coding_Transcript|FAM129C_uc010eaw.3_5'UTR|FAM129C_uc002nhb.3_5'Flank	NM_173544	NP_775815	Q86XR2	NIBL2_HUMAN	Homo sapiens family with sequence similarity 129, member C (FAM129C), transcript variant 1, mRNA.	241										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCTGCCCGGGCCTTCCTGGA	0.697													A	17649991	G	A	17649991	3	1	235	1	0	0	0	0	1	0	0	0	5483	1203	42	2	747	2	FAM129C	19	17649991	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	7144235	17649991	41478992	70	16319											
CD177	57126	broad.mit.edu	37	chr19	43865711	43865711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgccactcattgttatgatgGgtacattcatctctcaggag	9	13	9	10	1	4	1	3	1	1	0	5	2	4	2	1	2	1	2	1	2	2	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr19:43865711G>T	uc002owi.3	+	8	1100	c.1058G>T	c.(1057-1059)gGg>gTg	p.G353V	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	354	UPAR/Ly6 2.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TGTTATGATGGGTACATTCAT	0.622													T	43865711	G	T	43865711	3	4	235	1	0	0	0	0	1	0	0	0	3001	1232	43	4	1091	4	CD177	19	43865711	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	26215720	43865711	15263272	71	16320											
CRYBA4	1413	broad.mit.edu	37	chr22	27018564	27018564	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaggggccacaatgAccctgcaatgcacaaagtca	14	5	11	11	0	1	1	1	1	0	0	1	2	1	2	2	3	3	3	2	3	4	0			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:27018564A>G	uc003acz.4	+	1	39	c.4A>G	c.(4-6)Acc>Gcc	p.T2A		NM_001886	NP_001877	P53673	CRBA4_HUMAN	Homo sapiens crystallin, beta A4 (CRYBA4), mRNA.	2	N-terminal arm.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						GGCCACAATGACCCTGCAATG	0.562													G	27018564	A	G	27018564	3	3	235	1	0	0	0	0	1	0	0	0	3940	275	10	3	6	3	CRYBA4	22	27018564	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08		27018564	24286002	72	16321											
APOBEC3F	200316	broad.mit.edu	37	chr22	39436982	39436982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggatgaagcctcacttcaGgtaccgctgcccgctctacc	9	8	9	15	2	3	1	2	1	1	0	3	2	3	2	4	2	4	3	4	2	4	3			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chr22:39436982G>A	uc021wpr.1	+	1	310	c.17_splice	c.e1+1	p.R6_splice	APOBEC3F_uc003awv.3_Splice_Site_p.R6_splice|APOBEC3F_uc011aog.1_Splice_Site_p.R6_splice|APOBEC3F_uc003aww.3_Splice_Site_p.R6_splice	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.	6					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTCACTTCAGGTACCGCTGC	0.647													A	39436982	G	A	39436982	3	1	235	1	0	0	0	0	1	0	0	0	796	1014	35	2	19	2	APOBEC3F	22	39436982	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	12418418	39436982	11867584	73	16322											
CLCN4	1183	broad.mit.edu	37	chrX	10181901	10181901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaccctttccttgacgTgaaggacgagtttactcacc	8	12	10	11	2	1	2	1	2	0	0	2	4	2	3	3	2	2	2	3	2	3	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:10181901T>C	uc004csy.4	+	10	2187	c.1757T>C	c.(1756-1758)gTg>gCg	p.V586A	CLCN4_uc011mid.2_Missense_Mutation_p.V492A	NM_001830	NP_001821	P51793	CLCN4_HUMAN	Homo sapiens chloride channel 4 (CLCN4), mRNA.	586						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.V586M(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TTCCTTGACGTGAAGGACGAG	0.597													C	10181901	T	C	10181901	3	2	235	1	0	0	0	0	1	0	0	0	3496	1696	59	3	1791	3	CLCN4	23	10181901	Missense_Mutation	SNP	T	TCGA-32-4208-01A-01D-1353-08		10181901	145088659	74	16323											
NHS	4810	broad.mit.edu	37	chrX	17743937	17743937	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctctcaacatcttcacAgcccccagcacaaattaagt	12	9	4	16	0	3	0	2	0	2	0	4	0	3	0	3	0	4	2	3	0	3	2			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:17743937A>T	uc011mix.2	+	6	2049	c.1711A>T	c.(1711-1713)Agc>Tgc	p.S571C	NHS_uc004cxx.3_Missense_Mutation_p.S550C|NHS_uc004cxy.3_Missense_Mutation_p.S394C|NHS_uc004cxz.3_Missense_Mutation_p.S373C|NHS_uc004cya.3_Missense_Mutation_p.S273C	NM_001136024	NP_001129496	Q6T4R5	NHS_HUMAN	Homo sapiens Nance-Horan syndrome (congenital cataracts and dental anomalies) (NHS), transcript variant 2, mRNA.	550						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACATCTTCACAGCCCCCAGCA	0.557													T	17743937	A	T	17743937	3	4	235	1	0	0	0	0	1	0	0	0	10487	188	7	5	1775	5	NHS	23	17743937	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	7562036	17743937	137526623	75	16324											
SMC1A	8243	broad.mit.edu	37	chrX	53409449	53409449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgctattgcgggacAgggccttatagatctcatca	9	10	12	10	1	2	1	2	0	1	1	3	2	2	2	1	3	2	2	1	3	3	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:53409449A>G	uc004dsg.3	-	20	3332	c.3263T>C	c.(3262-3264)cTg>cCg	p.L1088P	SMC1A_uc011moe.2_Missense_Mutation_p.L1066P	NM_006306	NP_006297	Q14683	SMC1A_HUMAN	Homo sapiens structural maintenance of chromosomes 1A (SMC1A), mRNA.	1088					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity	p.L1088L(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						ATTGCGGGACAGGGCCTTATA	0.527													G	53409449	A	G	53409449	3	3	235	1	0	0	0	0	1	0	0	0	14875	188	7	3	458	3	SMC1A	23	53409449	Missense_Mutation	SNP	A	TCGA-32-4208-01A-01D-1353-08	35665512	53409449	101861111	76	16325											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgcttcttaggaagtcGatctcttaattccatgatgg	8	16	9	8	1	2	1	0	1	2	0	5	3	3	2	1	2	2	2	1	2	3	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:76938029G>A	uc004ecp.4	-	8	2951	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_uc004ecq.4_Nonsense_Mutation_p.R869*|ATRX_uc004eco.4_Nonsense_Mutation_p.R692*|ATRX_uc004ecr.2_Nonsense_Mutation_p.R839*|ATRX_uc010nlx.1_Nonsense_Mutation_p.R878*|ATRX_uc010nly.1_Nonsense_Mutation_p.R852*	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	907					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.R907*(2)|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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938029	G	A	76938029	4	1	235	1	0	0	0	0	0	1	0	0	1213	1066	37	1	4867	1	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	23528580	76938029	78332531	77	16326											
PGK1	5230	broad.mit.edu	37	chrX	77372859	77372860	+	Missense_Mutation	DNP	GC	GC	CT																															ttccgagcttcactttccaaGctaggggatgtctatgtcaa																										TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:77372859_77372860GC>CT	uc004ecz.4	+	4	640_641	c.468_469GC>CT	c.(466-471)aagcta>aaCTta	p.K156N	PGK1_uc011mqq.2_Missense_Mutation_p.K128N	NM_000291	NP_000282	P00558	PGK1_HUMAN	Homo sapiens phosphoglycerate kinase 1 (PGK1), mRNA.	156					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CACTTTCCAAGCTAGGGGATGT	0.426													CT	77372860	GC	CT	77372859	3	2	235	1	0	0	0	0	1	0	0	0	11867	962	34	4	486	4	PGK1	23	77372859	Missense_Mutation	DNP	GC	TCGA-32-4208-01A-01D-1353-08	434830	77372859	77897701	78	16327											
CXorf57	55086	broad.mit.edu	37	chrX	105882786	105882786	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgacagctataagtgaaGtcaggaaggagattgaagac	15	9	12	5	0	2	5	1	3	1	2	2	7	2	6	0	2	1	1	0	2	5	4			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882786G>C	uc004emi.4	+	8	1754	c.1603G>C	c.(1603-1605)Gtc>Ctc	p.V535L	CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	535										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TATAAGTGAAGTCAGGAAGGA	0.363													C	105882786	G	C	105882786	3	2	235	1	0	0	0	0	1	0	0	0	4146	1029	36	4	1637	4	CXorf57	23	105882786	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	28509927	105882786	49387774	79	16328			1	38		2	2	12	G		2.878169e-05
CXorf57	55086	broad.mit.edu	37	chrX	105882797	105882797	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataagtgaagtcaggaaggaGattgaagacttgcagtatag	16	9	13	3	0	1	4	1	2	0	2	1	6	1	5	0	2	1	2	0	2	6	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:105882797G>C	uc004emi.4	+	8	1765	c.1614G>C	c.(1612-1614)gaG>gaC	p.E538D	CXorf57_uc004emj.4_Intron|Mir_548_uc022ccb.1_5'Flank	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	538										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGGAAGGAGATTGAAGACT	0.373													C	105882797	G	C	105882797	3	2	235	1	0	0	0	0	1	0	0	0	4146	933	33	4	1648	4	CXorf57	23	105882797	Missense_Mutation	SNP	G	TCGA-32-4208-01A-01D-1353-08	11	105882797	49387763	80	16329			1	38		2	2	12	G		2.878169e-05
SLITRK2	84631	broad.mit.edu	37	chrX	144906297	144906297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttacctaaaaggcagtttgCcccttcctatgaatctcgac	10	12	6	13	1	1	1	0	1	1	0	3	2	2	1	4	1	2	2	4	1	5	5			TCGA-32-4208-01A-01D-1353-08	TCGA-32-4208-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f76168d6-f1a9-4483-a9ae-67b55e741a77	1825b78f-cbf7-415c-81bc-5c2443270927	g.chrX:144906297C>T	uc022cfn.1	+	0	2354	c.2354C>T	c.(2353-2355)gCc>gTc	p.A785V	SLITRK2_uc004fcd.3_Missense_Mutation_p.A785V|SLITRK2_uc010nsp.3_Missense_Mutation_p.A785V|SLITRK2_uc010nso.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwq.2_Missense_Mutation_p.A785V|SLITRK2_uc011mwr.2_Missense_Mutation_p.A785V|SLITRK2_uc011mws.2_Missense_Mutation_p.A785V|SLITRK2_uc004fcg.3_Missense_Mutation_p.A785V|SLITRK2_uc011mwt.2_Missense_Mutation_p.A785V|CXorf1_uc004fch.3_5'Flank	NM_032539	NP_115928	Q9H156	SLIK2_HUMAN	Homo sapiens SLIT and NTRK-like family, member 2 (SLITRK2), transcript variant 1, mRNA.	785						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCAGTTTGCCCCTTCCTAT	0.453													T	144906297	C	T	144906297	3	4	235	1	0	0	0	0	1	0	0	0	14837	739	26	2	2356	2	SLITRK2	23	144906297	Missense_Mutation	SNP	C	TCGA-32-4208-01A-01D-1353-08	39023500	144906297	10364263	81	16330											
DNAJC11	55735	broad.mit.edu	37	chr1	6727822	6727822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctctctctctgcagccGctcaaactcctctcgaattt	6	15	4	16	2	5	0	1	0	4	0	10	1	6	0	2	0	3	2	2	0	2	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:6727822G>A	uc001aof.2	-	3	431	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	DNAJC11_uc001aog.2_Missense_Mutation_p.R109W|DNAJC11_uc010nzu.1_Missense_Mutation_p.R19W	NM_018198	NP_060668	Q9NVH1	DJC11_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 11 (DNAJC11), mRNA.	109					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGCAGCCGCTCAAACTCC	0.522													A	6727822	G	A	6727822	3	1	236	1	0	0	0	0	1	0	0	0	4669	1086	38	1	1406	1	DNAJC11	1	6727822	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		6727822	242522799	1	16331											
TDRKH	11022	broad.mit.edu	37	chr1	151755433	151755433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgttgcactggctgggatCccaaggcccagggctatttt	7	11	12	11	0	0	0	0	0	0	0	1	1	1	1	2	4	1	4	2	4	2	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:151755433C>T	uc009wnb.1	-	1	248	c.66G>A	c.(64-66)ggG>ggA	p.G22G	TDRKH_uc001eyy.2_5'UTR|TDRKH_uc001ezb.4_Silent_p.G22G|TDRKH_uc001ezc.4_Silent_p.G22G|TDRKH_uc001eza.4_Silent_p.G22G|TDRKH_uc001ezd.4_Silent_p.G22G|TDRKH_uc010pdn.1_5'UTR	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	22							RNA binding	p.G22V(1)		breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TGGCTGGGATCCCAAGGCCCA	0.463													T	151755433	C	T	151755433	2	4	236	1	0	0	0	0	0	0	0	1	15837	842	30	2		2	TDRKH	1	151755433	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08	145027611	151755433	97495188	2	16332											
CRTC2	200186	broad.mit.edu	37	chr1	153921628	153921628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcattggccggtggtaaGactgttgcccatgcccactg	7	10	11	13	1	1	1	1	0	0	1	1	1	1	1	3	3	2	2	3	3	1	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:153921628G>A	uc021pab.1	-	11	1796	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	DENND4B_uc001fdd.1_5'Flank|CRTC2_uc001fde.4_Non-coding_Transcript|CRTC2_uc001fdf.4_Missense_Mutation_p.S82F	NM_181715	NP_859066	Q53ET0	CRTC2_HUMAN	Homo sapiens CREB regulated transcription coactivator 2 (CRTC2), mRNA.	546					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCGGTGGTAAGACTGTTGCCC	0.597													A	153921628	G	A	153921628	3	1	236	1	0	0	0	0	1	0	0	0	3931	942	33	2	456	2	CRTC2	1	153921628	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	2166195	153921628	95328993	3	16333											
OR10J3	441911	broad.mit.edu	37	chr1	159283999	159283999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccatgccaaggccaatccCcagtgatccagaggccagtt	10	6	11	14	0	0	2	0	1	0	1	2	2	2	2	7	3	1	1	7	3	2	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:159283999C>T	uc010piu.2	-	0	451	c.451G>A	c.(451-453)Ggg>Agg	p.G151R		NM_001004467	NP_001004467	Q5JRS4	O10J3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily J, member 3 (OR10J3), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G151G(1)|p.L150M(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AGGCCAATCCCCAGTGATCCA	0.507													T	159283999	C	T	159283999	3	4	236	1	0	0	0	0	1	0	0	0	10987	623	22	2	540	2	OR10J3	1	159283999	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	5362371	159283999	89966622	4	16334											
POU2F1	5451	broad.mit.edu	37	chr1	167358969	167358969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttgccaagaccttcaaaCaaagacgaatcaaacttgga	17	8	7	9	1	2	2	2	0	0	2	2	4	2	3	2	1	3	1	2	1	5	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:167358969C>G	uc001gec.3	+	9	1128	c.889C>G	c.(889-891)Caa>Gaa	p.Q297E	POU2F1_uc010plg.2_Non-coding_Transcript|POU2F1_uc001gee.3_Missense_Mutation_p.Q320E|POU2F1_uc010plh.2_Missense_Mutation_p.Q257E|POU2F1_uc001ged.3_Missense_Mutation_p.Q295E|POU2F1_uc001gef.3_Missense_Mutation_p.Q309E|POU2F1_uc001geg.3_Missense_Mutation_p.Q195E	NM_001198783	NP_001185712	P14859	PO2F1_HUMAN	Homo sapiens POU class 2 homeobox 1 (POU2F1), transcript variant 2, mRNA.	297	POU-specific.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GACCTTCAAACAAAGACGAAT	0.483													G	167358969	C	G	167358969	3	3	236	1	0	0	0	0	1	0	0	0	12348	479	17	4	919	4	POU2F1	1	167358969	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	8074970	167358969	81891652	5	16335											
CFH	3075	broad.mit.edu	37	chr1	196694295	196694295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgtacacttagttcctGatcgcaagaaagaccagtat	14	11	8	8	1	0	4	0	1	0	3	2	4	1	4	2	0	1	4	2	0	6	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr1:196694295G>A	uc001gtj.4	+	11	1981	c.1741G>A	c.(1741-1743)Gat>Aat	p.D581N	CFH_uc021pgt.1_Intron	NM_000186	NP_000177	P08603	CFAH_HUMAN	Homo sapiens complement factor H (CFH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	581	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						CTTAGTTCCTGATCGCAAGAA	0.343													A	196694295	G	A	196694295	3	1	236	1	0	0	0	0	1	0	0	0	3313	1290	45	2	1805	2	CFH	1	196694295	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	29335326	196694295	52556326	6	16336											
HEATR5B	54497	broad.mit.edu	37	chr2	37295836	37295836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttacctacggctttcaTttgttttccaatagcttggc	7	18	6	10	1	2	0	1	0	1	0	3	0	3	0	2	2	3	3	2	2	4	9			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:37295836T>C	uc002rpp.1	-	7	1261	c.1165A>G	c.(1165-1167)Atg>Gtg	p.M389V		NM_019024	NP_061897	Q9P2D3	HTR5B_HUMAN	Homo sapiens HEAT repeat containing 5B (HEATR5B), mRNA.	389							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ACGGCTTTCATTTGTTTTCCA	0.353													C	37295836	T	C	37295836	3	2	236	1	0	0	0	0	1	0	0	0	7087	1493	52	3	5166	3	HEATR5B	2	37295836	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		37295836	205903537	7	16337											
EIF5B	9669	broad.mit.edu	37	chr2	99977775	99977777	+	In_Frame_Del	DEL	TGA	TGA	-																															gtggaaatgtactctgggagTgatgatgatgatgattttaa																										TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:99977775_99977777delTGA	uc002tab.3	+	3	595_597	c.411_413delTGA	c.(409-414)agtgat>agt	p.D142del		NM_015904	NP_056988	O60841	IF2P_HUMAN	Homo sapiens eukaryotic translation initiation factor 5B (EIF5B), mRNA.	142	Poly-Asp.				regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity	p.D142N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ACTCTGGGAGTGATGATGATGAT	0.345													-	99977777	TGA	-	99977775	7	5	236	1	0	1	0	1	0	0	0	0	5085	1693	59	0	425	0	EIF5B	2	99977775	In_Frame_Del	DEL	TGA	TCGA-32-4209-01A-01D-1353-08	62681939	99977775	143221598	8	16338											
KIF5C	3800	broad.mit.edu	37	chr2	149793797	149793797	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtattttcgcccactaGgggaagctgcatgaccccca	8	11	10	12	1	0	1	0	1	0	0	1	2	0	2	3	2	2	4	3	2	3	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr2:149793797G>A	uc010zbu.2	+	4	687	c.292_splice	c.e4-1	p.G98_splice		NM_004522	NP_004513	O60282	KIF5C_HUMAN	Homo sapiens kinesin family member 5C (KIF5C), mRNA.	98	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TCGCCCACTAGGGGAAGCTGC	0.512													A	149793797	G	A	149793797	5	1	236	1	0	0	0	0	0	0	1	0	8365	1014	35	2	227	2	KIF5C	2	149793797	Splice_Site	SNP	G	TCGA-32-4209-01A-01D-1353-08	49816022	149793797	93405576	9	16339											
STXBP5L	9515	broad.mit.edu	37	chr3	120871386	120871386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaatctaaaagagcagaActgagagtttattatgatga	17	12	9	3	0	1	6	0	4	1	3	1	7	1	6	0	0	2	2	0	0	6	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:120871386A>G	uc003eec.4	+	7	872	c.732A>G	c.(730-732)gaA>gaG	p.E244E	STXBP5L_uc011bji.2_Silent_p.E244E	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	244					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AAAGAGCAGAACTGAGAGTTT	0.333													G	120871386	A	G	120871386	2	3	236	1	0	0	0	0	0	0	0	1	15453	40	2	3		3	STXBP5L	3	120871386	Silent	SNP	A	TCGA-32-4209-01A-01D-1353-08		120871386	77151044	10	16340											
PEX5L	51555	broad.mit.edu	37	chr3	179616029	179616029	+	Frame_Shift_Del	DEL	T	T	-																															ttatctgccgccctagagccTtttccctataacagtgaaat																										TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr3:179616029delT	uc003fki.1	-	2	229	c.99delA	c.(97-99)aaafs	p.K33fs	PEX5L_uc011bqd.1_5'UTR|PEX5L_uc011bqe.1_Intron|PEX5L_uc011bqf.1_5'UTR|PEX5L_uc003fkj.1_Intron|PEX5L_uc010hxd.1_Frame_Shift_Del_p.K31fs|PEX5L_uc011bqg.1_Frame_Shift_Del_p.K9fs|PEX5L_uc011bqh.1_Intron	NM_016559	NP_057643	Q8IYB4	PEX5R_HUMAN	Homo sapiens peroxisomal biogenesis factor 5-like (PEX5L), mRNA.	33					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CCCTAGAGCCTTTTCCCTATA	0.413													-	179616029	T	-	179616029	7	5	236	1	0	1	0	1	0	0	0	0	11826	1606	56	0	1833	0	PEX5L	3	179616029	Frame_Shift_Del	DEL	T	TCGA-32-4209-01A-01D-1353-08	58744643	179616029	18406401	11	16341											
NKX3-2	579	broad.mit.edu	37	chr4	13546023	13546023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacgtcaaggtgttggCgccgcgcacagccatctgcg	8	6	15	12	5	2	0	1	0	1	0	2	2	2	1	2	3	2	2	2	3	2	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr4:13546023C>T	uc003gmx.2	-	0	92	c.16G>A	c.(16-18)Gcc>Acc	p.A6T		NM_001189	NP_001180	P78367	NKX32_HUMAN	Homo sapiens NK3 homeobox 2 (NKX3-2), mRNA.	6					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGGTGTTGGCGCCGCGCACA	0.771													T	13546023	C	T	13546023	3	4	236	1	0	0	0	0	1	0	0	0	10532	768	27	1	993	1	NKX3-2	4	13546023	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		13546023	177608253	12	16342											
GEMIN5	25929	broad.mit.edu	37	chr5	154275813	154275813	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgtgttccaagtgtGgtaagaggaggagcttttgc	7	11	16	7	1	0	1	0	0	0	1	1	3	1	3	2	4	3	3	2	4	2	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:154275813G>C	uc003lvx.3	-	23	3519	c.3436C>G	c.(3436-3438)Cac>Gac	p.H1146D	GEMIN5_uc011ddk.1_Missense_Mutation_p.H1145D	NM_015465	NP_056280	Q8TEQ6	GEMI5_HUMAN	Homo sapiens gem (nuclear organelle) associated protein 5 (GEMIN5), transcript variant 1, mRNA.	1146					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTCCAAGTGTGGTAAGAGGAG	0.547													C	154275813	G	C	154275813	3	2	236	1	0	0	0	0	1	0	0	0	6387	1348	47	4	1110	4	GEMIN5	5	154275813	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		154275813	26639447	13	16343											
AGXT2L2	85007	broad.mit.edu	37	chr5	177649920	177649920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactgggcagagactcagCgaagaaggctgcaatctgtg	12	6	13	10	1	2	2	1	0	1	2	2	4	2	2	0	2	2	3	0	2	3	0	rs142142484	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr5:177649920C>T	uc003miz.3	-	6	886	c.634G>A	c.(634-636)Gct>Act	p.A212T	AGXT2L2_uc003miy.3_5'UTR|AGXT2L2_uc003mjc.3_Missense_Mutation_p.A171T|AGXT2L2_uc003mjb.3_5'UTR|AGXT2L2_uc003mja.3_Non-coding_Transcript|AGXT2L2_uc003mjd.1_Missense_Mutation_p.A70T	NM_153373	NP_699204	Q8IUZ5	AT2L2_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 2 (AGXT2L2), mRNA.	212						mitochondrion	pyridoxal phosphate binding|transaminase activity			breast(1)|endometrium(2)|large_intestine(1)|pancreas(1)|prostate(1)	6	all_cancers(89;0.00185)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.181)|all cancers(165;0.235)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	AGAGACTCAGCGAAGAAGGCT	0.587													T	177649920	C	T	177649920	3	4	236	1	0	0	0	0	1	0	0	0	407	768	27	1	742	1	AGXT2L2	5	177649920	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	23374107	177649920	3265340	14	16344											
BMP6	654	broad.mit.edu	37	chr6	7727630	7727630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgccctgtccgccgacaacGacgaggacggggcgtcggag	8	3	16	14	8	0	0	0	0	0	0	2	5	1	2	3	4	1	0	3	4	1	0			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:7727630G>A	uc003mxu.4	+	0	620	c.442G>A	c.(442-444)Gac>Aac	p.D148N		NM_001718	NP_001709	P22004	BMP6_HUMAN	Homo sapiens bone morphogenetic protein 6 (BMP6), mRNA.	148					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCCGACAACGACGAGGACGG	0.731													A	7727630	G	A	7727630	3	1	236	1	0	0	0	0	1	0	0	0	1470	1058	37	1	444	1	BMP6	6	7727630	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		7727630	163387437	15	16345											
NFKBIE	4794	broad.mit.edu	37	chr6	44229437	44229437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccgcccttccagcaggCagcgggcacaggccaagtgc	7	4	14	16	2	0	0	0	0	0	0	1	0	1	0	4	4	3	3	4	4	1	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:44229437C>A	uc003oxe.1	-	2	1059	c.1034G>T	c.(1033-1035)tGc>tTc	p.C345F		NM_004556	NP_004547	O00221	IKBE_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon (NFKBIE), mRNA.	345					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTCCAGCAGGCAGCGGGCACA	0.632													A	44229437	C	A	44229437	3	1	236	1	0	0	0	0	1	0	0	0	10456	710	25	4	484	4	NFKBIE	6	44229437	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	36501807	44229437	126885630	16	16346											
COL19A1	1310	broad.mit.edu	37	chr6	70589454	70589454	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgttcacatggtttcaaGgcacaatgagactcactggc	10	9	11	11	1	3	1	3	1	0	1	3	2	3	1	1	4	0	3	1	4	2	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:70589454G>T	uc003pfc.1	+	1						NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.						cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						ATGGTTTCAAGGCACAATGAG	0.418													T	70589454	G	T	70589454	1	4	236	1	0	0	0	0	0	0	0	0	3707	1015	35	4		4	COL19A1	6	70589454	Translation_Start_Site	SNP	G	TCGA-32-4209-01A-01D-1353-08	26360017	70589454	100525613	17	16347											
RFPL4B	442247	broad.mit.edu	37	chr6	112671523	112671523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctgcaagccctcgccttCgccgtgtgggaattttcctg	4	13	10	14	3	0	0	0	0	0	0	4	1	2	1	5	1	2	1	5	1	2	4	rs143103700	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:112671523C>T	uc003pvx.1	+	2	925	c.613C>T	c.(613-615)Cgc>Tgc	p.R205C	RFPL4B_uc021zdy.1_Missense_Mutation_p.R205C	NM_001013734	NP_001013756	Q6ZWI9	RFPLB_HUMAN	Homo sapiens ret finger protein-like 4B (RFPL4B), mRNA.	205	B30.2/SPRY.						zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	14		all_cancers(87;9.44e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00265)|Colorectal(196;0.0209)		all cancers(137;0.0202)|OV - Ovarian serous cystadenocarcinoma(136;0.0477)|Epithelial(106;0.0646)|GBM - Glioblastoma multiforme(226;0.0866)|BRCA - Breast invasive adenocarcinoma(108;0.244)		CCCTCGCCTTCGCCGTGTGGG	0.448													T	112671523	C	T	112671523	3	4	236	1	0	0	0	0	1	0	0	0	13344	884	31	1	615	1	RFPL4B	6	112671523	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	42082069	112671523	58443544	18	16348											
DSE	29940	broad.mit.edu	37	chr6	116757341	116757341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgcttctccttgtagaCcaaatacacctgggagagga	11	9	10	11	0	1	2	0	0	1	2	2	4	1	3	3	2	3	3	3	2	3	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr6:116757341C>A	uc011ebg.2	+	5	1866	c.1767C>A	c.(1765-1767)gaC>gaA	p.D589E	DSE_uc003pws.3_Missense_Mutation_p.D570E|DSE_uc003pwt.3_Missense_Mutation_p.D570E|DSE_uc003pwu.3_Missense_Mutation_p.D237E	NM_013352	NP_037484	Q9UL01	DSE_HUMAN	Homo sapiens dermatan sulfate epimerase (DSE), transcript variant 1, mRNA.	570					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		TCCTTGTAGACCAAATACACC	0.502													A	116757341	C	A	116757341	3	1	236	1	0	0	0	0	1	0	0	0	4813	506	18	4	1728	4	DSE	6	116757341	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	4085818	116757341	54357726	19	16349											
CLIP2	7461	broad.mit.edu	37	chr7	73771699	73771699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagcagcagcacattgaGcagctgctggctgaacgaga	13	5	14	9	1	0	4	0	2	0	2	0	6	0	4	0	1	7	7	0	1	2	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr7:73771699G>A	uc003uam.3	+	5	1434	c.1107G>A	c.(1105-1107)gaG>gaA	p.E369E	CLIP2_uc003uan.3_Silent_p.E369E	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	369						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						AGCACATTGAGCAGCTGCTGG	0.617													A	73771699	G	A	73771699	2	1	236	1	0	0	0	0	0	0	0	1	3564	962	34	2		2	CLIP2	7	73771699	Silent	SNP	G	TCGA-32-4209-01A-01D-1353-08		73771699	85366964	20	16350											
PRUNE2	158471	broad.mit.edu	37	chr9	79321219	79321219	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgatttgtttcttgaccttCattagttgaaacattagatg	10	18	7	6	0	2	4	1	3	1	1	2	4	2	4	1	0	1	2	1	0	3	7			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:79321219C>G	uc010mpk.3	-	7	6095	c.5971G>C	c.(5971-5973)Gaa>Caa	p.E1991Q	PRUNE2_uc004akj.4_5'Flank|PRUNE2_uc022big.1_5'Flank|PRUNE2_uc010mpl.1_5'Flank|PRUNE2_uc022bih.1_Missense_Mutation_p.E1813Q	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	1991					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TCTTGACCTTCATTAGTTGAA	0.423													G	79321219	C	G	79321219	3	3	236	1	0	0	0	0	1	0	0	0	12726	835	29	4	3343	4	PRUNE2	9	79321219	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		79321219	61892212	21	16351											
DAPK1	1612	broad.mit.edu	37	chr9	90266587	90266587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtaaagatggcaacatgcCtatcgtggtggccctctgtg	9	11	12	9	1	1	1	0	0	1	1	2	1	1	1	2	3	2	2	2	3	4	2	rs36214022		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr9:90266587C>T	uc004apc.3	+	16	1910	c.1772C>T	c.(1771-1773)cCt>cTt	p.P591L	DAPK1_uc004apd.3_Missense_Mutation_p.P591L|DAPK1_uc011ltg.2_Missense_Mutation_p.P591L|DAPK1_uc011lth.2_Missense_Mutation_p.P328L|DAPK1_uc004apf.1_Missense_Mutation_p.P145L	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	591			P -> L.		apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						GGCAACATGCCTATCGTGGTG	0.498									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90266587	C	T	90266587	3	4	236	1	0	0	0	0	1	0	0	0	4269	681	24	2	1834	2	DAPK1	9	90266587	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	10945368	90266587	50946844	22	16352											
TLL2	7093	broad.mit.edu	37	chr10	98155658	98155658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggaaggtaagtcccaCgtgaaacccctctgaaaccg	12	7	10	12	2	1	2	0	2	1	0	2	3	2	3	4	2	3	2	4	2	4	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:98155658C>T	uc001kml.2	-	11	1745	c.1504G>A	c.(1504-1506)Gtg>Atg	p.V502M	TLL2_uc009xvf.2_Missense_Mutation_p.V480M	NM_012465	NP_036597	Q9Y6L7	TLL2_HUMAN	Homo sapiens tolloid-like 2 (TLL2), mRNA.	502	CUB 2.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTAAGTCCCACGTGAAACCCC	0.498											OREG0020398	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	98155658	C	T	98155658	3	4	236	1	0	0	0	0	1	0	0	0	16046	536	19	1	1583	1	TLL2	10	98155658	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		98155658	37379089	23	16353											
CHUK	1147	broad.mit.edu	37	chr10	101960490	101960490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtagctccatgatttcAgcatgcaaagacataatctg	12	13	7	9	0	3	2	1	1	2	1	4	2	4	2	1	0	3	4	1	0	3	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr10:101960490A>G	uc001kqp.3	-	14	1672	c.1617T>C	c.(1615-1617)gcT>gcC	p.A539A		NM_001278	NP_001269	O15111	IKKA_HUMAN	Homo sapiens conserved helix-loop-helix ubiquitous kinase (CHUK), mRNA.	539					I-kappaB phosphorylation|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|nucleus	ATP binding|identical protein binding|IkappaB kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)		CCATGATTTCAGCATGCAAAG	0.413													G	101960490	A	G	101960490	2	3	236	1	0	0	0	0	0	0	0	1	3446	175	7	3		3	CHUK	10	101960490	Silent	SNP	A	TCGA-32-4209-01A-01D-1353-08	3804832	101960490	33574257	24	16354											
MYO7A	4647	broad.mit.edu	37	chr11	76901767	76901767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtccaagaagccaatcaTgttgcccgtgacattcatgg	12	9	9	11	1	2	2	2	1	0	1	3	2	3	2	3	1	2	1	3	1	4	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr11:76901767T>C	uc001oyb.2	+	29	4048	c.3776T>C	c.(3775-3777)aTg>aCg	p.M1259T	MYO7A_uc010rsm.1_Missense_Mutation_p.M1248T|MYO7A_uc001oyc.2_Missense_Mutation_p.M1259T|MYO7A_uc009yus.1_Non-coding_Transcript|MYO7A_uc009yut.1_Missense_Mutation_p.M470T	NM_000260	NP_000251	Q13402	MYO7A_HUMAN	Homo sapiens myosin VIIA (MYO7A), transcript variant 1, mRNA.	1259	FERM 1.				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						AAGCCAATCATGTTGCCCGTG	0.597													C	76901767	T	C	76901767	3	2	236	1	0	0	0	0	1	0	0	0	10158	1464	51	3	3924	3	MYO7A	11	76901767	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		76901767	58104749	25	16355											
C12orf35	55196	broad.mit.edu	37	chr12	32135884	32135884	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgcctgctaaaagtgaCagtagctgttccatggaagt	12	10	12	7	0	0	1	0	1	0	0	1	3	1	3	2	2	3	4	2	2	5	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:32135884C>G	uc001rks.3	+	3	2409	c.1995C>G	c.(1993-1995)gaC>gaG	p.D665E		NM_018169	NP_060639	Q9HCM1	CL035_HUMAN	Homo sapiens chromosome 12 open reading frame 35 (C12orf35), mRNA.	665										NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	59	all_cancers(9;3.36e-11)|all_epithelial(9;2.56e-11)|all_lung(12;5.67e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0336)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0114)			CTAAAAGTGACAGTAGCTGTT	0.423													G	32135884	C	G	32135884	3	3	236	1	0	0	0	0	1	0	0	0	1695	477	17	4	1997	4	C12orf35	12	32135884	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		32135884	101716011	26	16356											
ABCD2	225	broad.mit.edu	37	chr12	40013182	40013182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgaagaaatctgcattcactCcaggcgaaggtttttcacaa	13	11	8	9	1	3	2	2	1	1	1	4	3	4	2	1	2	1	2	1	2	4	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:40013182C>G	uc001rmb.2	-	0	662	c.236G>C	c.(235-237)gGa>gCa	p.G79A		NM_005164	NP_005155	Q9UBJ2	ABCD2_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 2 (ABCD2), mRNA.	79	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TGCATTCACTCCAGGCGAAGG	0.463													G	40013182	C	G	40013182	3	3	236	1	0	0	0	0	1	0	0	0	61	855	30	4	2026	4	ABCD2	12	40013182	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	7877298	40013182	93838713	27	16357											
OR6C2	341416	broad.mit.edu	37	chr12	55846834	55846834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagttcttactacttctgtCgcacccttgttgaacccctt	6	16	5	14	1	3	1	1	1	2	0	4	1	3	1	3	0	3	3	3	0	3	7			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:55846834C>T	uc001sgz.1	+	0	837	c.837C>T	c.(835-837)gtC>gtT	p.V279V		NM_054105	NP_473446	Q9NZP2	OR6C2_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 2 (OR6C2), mRNA.	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTACTTCTGTCGCACCCTTGT	0.408													T	55846834	C	T	55846834	2	4	236	1	0	0	0	0	0	0	0	1	11267	871	31	1		1	OR6C2	12	55846834	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08	15833652	55846834	78005061	28	16358											
LEMD3	23592	broad.mit.edu	37	chr12	65637180	65637180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtagcatttcatttagAtagaagaaattcaccaccaa	15	14	5	7	0	2	3	2	0	0	3	2	3	2	3	2	0	1	2	2	0	6	8			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:65637180A>G	uc001ssl.2	+	9	2344	c.2318A>G	c.(2317-2319)gAt>gGt	p.D773G	LEMD3_uc009zqo.2_Missense_Mutation_p.D772G	NM_014319	NP_055134	Q9Y2U8	MAN1_HUMAN	Homo sapiens LEM domain containing 3 (LEMD3), transcript variant 1, mRNA.	773	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TTTCATTTAGATAGAAGAAAT	0.303													G	65637180	A	G	65637180	3	3	236	1	0	0	0	0	1	0	0	0	8780	333	12	3	2356	3	LEMD3	12	65637180	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	9790346	65637180	68214715	29	16359											
IKBIP	121457	broad.mit.edu	37	chr12	99007867	99007867	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacatcagttactaaaccTgaaatccgtcgtatatctgt	13	14	5	9	2	2	1	1	1	1	0	4	1	3	1	2	0	3	2	2	0	7	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr12:99007867T>C	uc001tfv.3	-	2	659	c.549A>G	c.(547-549)tcA>tcG	p.S183S	IKBIP_uc001tfw.3_3'UTR	NM_201612	NP_963906	Q70UQ0	IKIP_HUMAN	Homo sapiens IKBKB interacting protein (IKBIP), transcript variant 2, mRNA.	183					induction of apoptosis|response to X-ray	endoplasmic reticulum membrane|integral to membrane	protein binding			NS(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(2)	6						TTACTAAACCTGAAATCCGTC	0.308													C	99007867	T	C	99007867	2	2	236	1	0	0	0	0	0	0	0	1	7667	1567	55	3		3	IKBIP	12	99007867	Silent	SNP	T	TCGA-32-4209-01A-01D-1353-08	33370687	99007867	34844028	30	16360											
MMP14	4323	broad.mit.edu	37	chr14	23312494	23312494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcctggtggctgtgcaCgagctgggccatgccctggg	4	10	15	12	1	1	0	0	0	1	0	2	1	2	0	3	4	3	3	3	4	0	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr14:23312494C>T	uc001whc.3	+	4	951	c.717C>T	c.(715-717)caC>caT	p.H239H		NM_004995	NP_004986	P50281	MMP14_HUMAN	Homo sapiens matrix metallopeptidase 14 (membrane-inserted) (MMP14), mRNA.	239						extracellular matrix|integral to plasma membrane|melanosome	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	20	all_cancers(95;9.47e-05)			GBM - Glioblastoma multiforme(265;0.00551)		TGGCTGTGCACGAGCTGGGCC	0.602													T	23312494	C	T	23312494	2	4	236	1	0	0	0	0	0	0	0	1	9728	535	19	1		1	MMP14	14	23312494	Silent	SNP	C	TCGA-32-4209-01A-01D-1353-08		23312494	84037046	31	16361											
TMC7	79905	broad.mit.edu	37	chr16	19073157	19073157	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagcccaaagggacatgAggaactaactagactgagcg	16	4	12	9	1	0	4	0	2	0	2	0	6	0	6	1	2	4	0	1	2	5	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr16:19073157A>T	uc002dfq.3	+	15	2294	c.2164A>T	c.(2164-2166)Agg>Tgg	p.R722W	TMC7_uc010vap.2_Missense_Mutation_p.R612W	NM_024847	NP_001153836	Q7Z402	TMC7_HUMAN	Homo sapiens transmembrane channel-like 7 (TMC7), transcript variant 1, mRNA.	722						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						AAGGGACATGAGGAACTAACT	0.418													T	19073157	A	T	19073157	3	4	236	1	0	0	0	0	1	0	0	0	16090	295	11	5	2226	5	TMC7	16	19073157	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08		19073157	71281596	32	16362											
ULK2	9706	broad.mit.edu	37	chr17	19699577	19699577	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgcttgagttttagggaTtttgaaaggagctgtggtct	9	15	14	3	0	1	3	0	2	1	1	1	5	1	5	0	3	2	3	0	3	2	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:19699577T>G	uc002gwm.4	-	18	2337	c.1828A>C	c.(1828-1830)Atc>Ctc	p.I610L	ULK2_uc002gwn.3_Missense_Mutation_p.I610L	NM_001142610	NP_055498	Q8IYT8	ULK2_HUMAN	Homo sapiens unc-51-like kinase 2 (C. elegans) (ULK2), transcript variant 2, mRNA.	610					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTTTAGGGATTTTGAAAGGA	0.413													G	19699577	T	G	19699577	3	3	236	1	0	0	0	0	1	0	0	0	17078	1493	52	5	1318	5	ULK2	17	19699577	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08		19699577	61495633	33	16363											
CNTNAP1	8506	broad.mit.edu	37	chr17	40847561	40847561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggtggtttctttgagccGggcacctggatgcgctataa	7	13	13	8	2	1	1	0	1	1	0	1	2	1	2	2	4	2	3	2	4	2	5			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:40847561G>A	uc002iay.3	+	18	3231	c.3015G>A	c.(3013-3015)ccG>ccA	p.P1005P	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	1005					axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity	p.P1005P(2)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TCTTTGAGCCGGGCACCTGGA	0.567													A	40847561	G	A	40847561	2	1	236	1	0	0	0	0	0	0	0	1	3677	1103	39	1		1	CNTNAP1	17	40847561	Silent	SNP	G	TCGA-32-4209-01A-01D-1353-08	21147984	40847561	40347649	34	16364											
TBCD	6904	broad.mit.edu	37	chr17	80842049	80842049	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattgctgcggtgtttgacCgagacataaactgcagaaga	12	10	12	7	2	0	5	0	2	0	3	0	6	0	5	1	1	4	3	1	1	3	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr17:80842049C>T	uc002kfy.1	+	14	1634	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	TBCD_uc002kfx.1_Nonsense_Mutation_p.R485*|TBCD_uc002kfz.3_Nonsense_Mutation_p.R502*	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	502					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GGTGTTTGACCGAGACATAAA	0.443													T	80842049	C	T	80842049	4	4	236	1	0	0	0	0	0	1	0	0	15733	644	23	1	1562	1	TBCD	17	80842049	Nonsense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	39994488	80842049	353161	35	16365											
ZNF492	57615	broad.mit.edu	37	chr19	22846757	22846757	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgtaaggtgcacaaaGaatgttacaatggacttaac	16	10	10	5	0	0	2	0	1	0	1	0	3	0	3	0	2	3	3	0	2	6	3	rs112130958		TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:22846757G>T	uc002nqw.3	+	3	530	c.286G>T	c.(286-288)Gaa>Taa	p.E96*		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	96					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.I96K(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GGTGCACAAAGAATGTTACAA	0.299													T	22846757	G	T	22846757	4	4	236	1	0	0	0	0	0	1	0	0	18044	943	33	4	296	4	ZNF492	19	22846757	Nonsense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		22846757	36282226	36	16366											
CEACAM5	1048	broad.mit.edu	37	chr19	42224052	42224052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatgtcacaagaaatgacGcaagagcctatgtatgtgga	15	9	10	7	1	2	3	2	1	0	2	2	4	2	4	1	1	1	2	1	1	6	2	rs138799075	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:42224052G>A	uc002orl.3	+	6	1817	c.1696G>A	c.(1696-1698)Gca>Aca	p.A566T	CEACAM5_uc002orj.1_Missense_Mutation_p.A565T	NM_004363	NP_004354	P06731	CEAM5_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 5 (CEACAM5), mRNA.	566	Ig-like 6.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		AAGAAATGACGCAAGAGCCTA	0.522													A	42224052	G	A	42224052	3	1	236	1	0	0	0	0	1	0	0	0	3225	1087	38	1	1722	1	CEACAM5	19	42224052	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	19377295	42224052	16904931	37	16367											
KLK11	11012	broad.mit.edu	37	chr19	51528895	51528895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatcctcatggcctggAggggggaggagcgggcccca	8	4	18	11	1	1	1	1	0	0	1	2	4	2	4	4	7	1	1	4	7	1	0			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:51528895A>G	uc002pvd.1	-	1	201	c.89T>C	c.(88-90)cTc>cCc	p.L30P	KLK11_uc002pvc.4_5'UTR|KLK11_uc002pve.1_5'UTR|KLK11_uc002pvb.2_5'UTR|KLK11_uc002pvf.1_5'UTR|KLK11_uc010eom.3_5'UTR	NM_144947	NP_006844	Q9UBX7	KLK11_HUMAN	Homo sapiens kallikrein-related peptidase 11 (KLK11), transcript variant 2, mRNA.	30					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CATGGCCTGGAGGGGGGAGGA	0.627													G	51528895	A	G	51528895	3	3	236	1	0	0	0	0	1	0	0	0	8457	304	11	3	854	3	KLK11	19	51528895	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	9304843	51528895	7600088	38	16368											
LILRB2	10288	broad.mit.edu	37	chr19	54783717	54783717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaatactgacagccatatCgccctgtgtgttcccaggtg	8	12	10	11	1	0	1	0	1	0	0	2	1	1	1	3	1	2	2	3	1	3	4	rs145209585	byFrequency	TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr19:54783717C>T	uc002qfb.3	-	3	550	c.284G>A	c.(283-285)cGa>cAa	p.R95Q	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Missense_Mutation_p.R95Q|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Missense_Mutation_p.R95Q|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	95	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	p.G94G(1)|p.R95*(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACAGCCATATCGCCCTGTGTG	0.557													T	54783717	C	T	54783717	3	4	236	1	0	0	0	0	1	0	0	0	8851	884	31	1	1556	1	LILRB2	19	54783717	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	3254822	54783717	4345266	39	16369											
SIRPG	55423	broad.mit.edu	37	chr20	1629729	1629729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcagtgcctggtccagaCttaaactccacgttctcagg	9	11	8	13	1	2	1	2	0	2	1	6	1	4	1	3	2	2	1	3	2	2	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:1629729C>A	uc002wfm.1	-	1	464	c.399G>T	c.(397-399)aaG>aaT	p.K133N	SIRPG_uc002wfn.1_Missense_Mutation_p.K133N|SIRPG_uc002wfo.1_Missense_Mutation_p.K133N	NM_018556	NP_061026	Q9P1W8	SIRPG_HUMAN	Homo sapiens signal-regulatory protein gamma (SIRPG), transcript variant 1, mRNA.	133	Ig-like V-type.				blood coagulation|cell adhesion|cell junction assembly|cell-cell signaling|intracellular signal transduction|leukocyte migration|negative regulation of cell proliferation|positive regulation of cell proliferation|positive regulation of cell-cell adhesion|positive regulation of T cell activation	integral to membrane|intracellular|plasma membrane	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|stomach(1)	27						CTGGTCCAGACTTAAACTCCA	0.493													A	1629729	C	A	1629729	3	1	236	1	0	0	0	0	1	0	0	0	14430	564	20	4	780	4	SIRPG	20	1629729	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08		1629729	61395791	40	16370											
SIGLEC1	6614	broad.mit.edu	37	chr20	3673751	3673751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccatggctctccaggaggTaggtcaggcgcaggttgcgg	6	7	17	11	3	2	0	1	0	1	0	3	1	2	1	2	7	1	4	2	7	1	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:3673751T>C	uc002wja.3	-	13	3536	c.3536A>G	c.(3535-3537)tAc>tGc	p.Y1179C	SIGLEC1_uc002wiz.4_Missense_Mutation_p.Y1179C|SIGLEC1_uc002wjb.1_5'UTR	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1179	Ig-like C2-type 12.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CTCCAGGAGGTAGGTCAGGCG	0.682													C	3673751	T	C	3673751	3	2	236	1	0	0	0	0	1	0	0	0	14399	1638	57	3	1625	3	SIGLEC1	20	3673751	Missense_Mutation	SNP	T	TCGA-32-4209-01A-01D-1353-08	2044022	3673751	59351769	41	16371											
NTSR1	4923	broad.mit.edu	37	chr20	61340984	61340984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggcgacgccggctgccGcggctactacttcctgcgcg	3	8	13	17	8	0	0	0	0	0	0	2	1	1	0	3	3	4	2	3	3	2	4			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr20:61340984G>A	uc002ydf.3	+	0	796	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	142						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			GCCGGCTGCCGCGGCTACTAC	0.677													A	61340984	G	A	61340984	3	1	236	1	0	0	0	0	1	0	0	0	10786	1087	38	1	427	1	NTSR1	20	61340984	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	57667233	61340984	1684536	42	16372											
TBX1	6899	broad.mit.edu	37	chr22	19748718	19748718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacgcgaaggtggccGgtgtgagcgtgcagctagag	11	5	18	7	4	0	4	0	1	0	3	0	5	0	4	1	3	4	2	1	3	4	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:19748718G>T	uc002zqa.1	+	2	454	c.325G>T	c.(325-327)Ggt>Tgt	p.G109C	TBX1_uc002zqb.3_Missense_Mutation_p.G109C|TBX1_uc002zqc.3_Missense_Mutation_p.G109C	NM_080647	NP_542378	O43435	TBX1_HUMAN	Homo sapiens T-box 1 (TBX1), transcript variant C, mRNA.	109					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GAAGGTGGCCGGTGTGAGCGT	0.726													T	19748718	G	T	19748718	3	4	236	1	0	0	0	0	1	0	0	0	15750	1116	39	4	331	4	TBX1	22	19748718	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08		19748718	31555848	43	16373											
LZTR1	8216	broad.mit.edu	37	chr22	21341825	21341825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaccccaccggccccccGttaccaccactcggccgtcg	5	5	10	21	5	0	0	0	0	0	0	2	1	0	1	9	3	1	1	9	3	1	1			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:21341825G>A	uc002zto.3	+	3	456	c.353G>A	c.(352-354)cGt>cAt	p.R118H	LZTR1_uc002ztn.3_Missense_Mutation_p.R77H|LZTR1_uc011ahy.2_Missense_Mutation_p.R99H|LZTR1_uc010gsr.1_5'UTR	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	118					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCGGCCCCCCGTTACCACCAC	0.662													A	21341825	G	A	21341825	3	1	236	1	0	0	0	0	1	0	0	0	9208	1145	40	1	367	1	LZTR1	22	21341825	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	1593107	21341825	29962741	44	16374											
TFIP11	24144	broad.mit.edu	37	chr22	26890269	26890269	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgagccaagagcacagcAcctgccaaaaagaaaaatta	19	5	7	10	0	0	3	0	1	0	2	0	3	0	3	3	0	5	2	3	0	7	2			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:26890269A>C	uc003acr.2	-	13	2367	c.1993_splice	c.e13-1	p.V665_splice	TFIP11_uc003acq.2_Missense_Mutation_p.V24G|TFIP11_uc003acs.2_Splice_Site_p.V665_splice|TFIP11_uc003act.2_Splice_Site_p.V665_splice	NM_012143	NP_036275	Q9UBB9	TFP11_HUMAN	Homo sapiens tuftelin interacting protein 11 (TFIP11), transcript variant 2, mRNA.	665					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGAGCACAGCACCTGCCAAAA	0.463													C	26890269	A	C	26890269	3	2	236	1	0	0	0	0	1	0	0	0	15907	173	6	5	527	5	TFIP11	22	26890269	Missense_Mutation	SNP	A	TCGA-32-4209-01A-01D-1353-08	5548444	26890269	24414297	45	16375											
NEFH	4744	broad.mit.edu	37	chr22	29886360	29886360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccccagagaaggaggctCctgccaaggtggaggtgaag	11	4	15	11	0	0	2	0	1	0	1	1	5	1	4	5	5	1	1	5	5	3	0			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:29886360C>A	uc003afo.3	+	3	2802	c.2731C>A	c.(2731-2733)Cct>Act	p.P911T	KIAA0845_uc003afp.3_5'UTR	NM_021076	NP_066554	P12036	NFH_HUMAN	Homo sapiens neurofilament, heavy polypeptide (NEFH), mRNA.	917	Tail.				cell death|nervous system development	neurofilament				cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						GAAGGAGGCTCCTGCCAAGGT	0.502													A	29886360	C	A	29886360	3	1	236	1	0	0	0	0	1	0	0	0	10390	855	30	4	2745	4	NEFH	22	29886360	Missense_Mutation	SNP	C	TCGA-32-4209-01A-01D-1353-08	2996091	29886360	21418206	46	16376											
DEPDC5	9681	broad.mit.edu	37	chr22	32275577	32275577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacttcgccagcttccagcGcaagtggtttgaggtggcct	6	10	13	12	3	0	1	0	1	0	0	2	2	1	1	3	3	2	3	3	3	1	3			TCGA-32-4209-01A-01D-1353-08	TCGA-32-4209-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c30ef40-b943-4281-84d7-8d574882abd4	77169aad-6bd8-4b1b-bb48-c02960d41ea0	g.chr22:32275577G>A	uc011alu.2	+	37	4074	c.3872G>A	c.(3871-3873)cGc>cAc	p.R1291H	DEPDC5_uc011als.2_Missense_Mutation_p.R1191H|DEPDC5_uc003als.3_Missense_Mutation_p.R1260H|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Missense_Mutation_p.R1282H|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Missense_Mutation_p.R709H|DEPDC5_uc003alw.3_Missense_Mutation_p.R558H|DEPDC5_uc011alx.2_Missense_Mutation_p.R108H|DEPDC5_uc010gwk.3_Missense_Mutation_p.R286H|DEPDC5_uc011aly.2_Missense_Mutation_p.R108H	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	1260					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTTCCAGCGCAAGTGGTTT	0.607													A	32275577	G	A	32275577	3	1	236	1	0	0	0	0	1	0	0	0	4481	1087	38	1	4009	1	DEPDC5	22	32275577	Missense_Mutation	SNP	G	TCGA-32-4209-01A-01D-1353-08	2389217	32275577	19028989	47	16377											
PRAMEF10	343071	broad.mit.edu	37	chr1	12955489	12955489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcagggatcccagagggaGgctgaggaagggccaggcct	10	4	17	10	0	1	2	1	1	0	1	2	5	2	5	3	6	0	1	3	6	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:12955489G>A	uc001auo.3	-	1	263	c.190C>T	c.(190-192)Ctc>Ttc	p.L64F		NM_001039361	NP_001034450	O60809	PRA10_HUMAN	Homo sapiens PRAME family member 10 (PRAMEF10), mRNA.	64										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCCAGAGGGAGGCTGAGGAAG	0.587													A	12955489	G	A	12955489	3	1	237	1	0	0	0	0	1	0	0	0	12508	1000	35	2	1246	2	PRAMEF10	1	12955489	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		12955489	236295132	1	16378											
CASP9	842	broad.mit.edu	37	chr1	15844698	15844698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctctggtctgagcaccaCtggggtaaggttttctaggg	8	12	13	8	0	3	1	0	1	3	0	4	1	3	1	1	5	1	3	1	5	3	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:15844698C>A	uc001awn.3	-	1	570	c.325G>T	c.(325-327)Gtg>Ttg	p.V109L	CASP9_uc001awm.2_Missense_Mutation_p.V109L|CASP9_uc001awo.3_Missense_Mutation_p.V109L|CASP9_uc001awp.3_5'UTR|CASP9_uc009voi.3_Intron|CASP9_uc010obm.2_Missense_Mutation_p.V26L	NM_001229	NP_127463	P55211	CASP9_HUMAN	Homo sapiens caspase 9, apoptosis-related cysteine peptidase (CASP9), transcript variant alpha, mRNA.	109					activation of caspase activity by cytochrome c|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol	cysteine-type endopeptidase activity|enzyme activator activity|protein binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|stomach(1)	18		Breast(348;0.000207)|all_lung(284;0.000211)|Colorectal(325;0.000259)|Lung NSC(340;0.000269)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;8.49e-07)|COAD - Colon adenocarcinoma(227;4.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00013)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00763)|READ - Rectum adenocarcinoma(331;0.0655)		CTGAGCACCACTGGGGTAAGG	0.517													A	15844698	C	A	15844698	3	1	237	1	0	0	0	0	1	0	0	0	2705	565	20	4	957	4	CASP9	1	15844698	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	2889209	15844698	233405923	2	16379											
MYOM3	127294	broad.mit.edu	37	chr1	24409117	24409117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctgatgggctcggtggcGgctgagctctcgcctacccc	4	8	13	16	3	1	2	0	2	1	0	3	2	1	2	4	4	2	3	4	4	1	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:24409117G>A	uc001bin.4	-	16	2221	c.2058C>T	c.(2056-2058)gcC>gcT	p.A686A	MYOM3_uc001bim.4_Silent_p.A343A|MYOM3_uc001bio.3_Silent_p.A686A|MYOM3_uc001bip.1_3'UTR	NM_152372	NP_689585	Q5VTT5	MYOM3_HUMAN	Homo sapiens myomesin family, member 3 (MYOM3), mRNA.	686	Fibronectin type-III 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		GCTCGGTGGCGGCTGAGCTCT	0.622													A	24409117	G	A	24409117	2	1	237	1	0	0	0	0	0	0	0	1	10169	1103	39	1		1	MYOM3	1	24409117	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	8564419	24409117	224841504	3	16380											
C8B	732	broad.mit.edu	37	chr1	57425758	57425758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacagctcacaatcaatggGcatcagggtaacatccacac	15	6	8	12	0	3	1	3	0	0	1	4	1	4	1	1	2	2	3	1	2	3	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:57425758G>A	uc001cyp.3	-	1	251	c.184C>T	c.(184-186)Ccc>Tcc	p.P62S	C8B_uc010oon.2_5'UTR|C8B_uc010ooo.2_Missense_Mutation_p.P10S	NM_000066	NP_000057	P07358	CO8B_HUMAN	Homo sapiens complement component 8, beta polypeptide (C8B), mRNA.	62					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CAATCAATGGGCATCAGGGTA	0.498													A	57425758	G	A	57425758	3	1	237	1	0	0	0	0	1	0	0	0	2441	1203	42	2	1635	2	C8B	1	57425758	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	33016641	57425758	191824863	4	16381											
DEPDC1	55635	broad.mit.edu	37	chr1	68948414	68948414	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtctctcagtagaatcTgattcttctttgtttttttc	6	22	6	7	0	5	2	1	1	4	1	7	2	5	2	0	0	0	3	0	0	3	8			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:68948414T>C	uc001dem.4	-	7	1194	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	DEPDC1_uc001dej.4_5'Flank|DEPDC1_uc001dek.4_Non-coding_Transcript|DEPDC1_uc001del.4_Intron	NM_001114120	NP_001107592	Q5TB30	DEP1A_HUMAN	Homo sapiens DEP domain containing 1 (DEPDC1), transcript variant 1, mRNA.	359					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding	p.T358T(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		CAGTAGAATCTGATTCTTCTT	0.343													C	68948414	T	C	68948414	2	2	237	1	0	0	0	0	0	0	0	1	4478	1567	55	3		3	DEPDC1	1	68948414	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08	11522656	68948414	180302207	5	16382											
MAGI3	260425	broad.mit.edu	37	chr1	114225544	114225544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatattaataatccttcGtcttcaaatgtgatttatga	12	17	7	5	1	2	2	1	2	1	0	4	3	3	3	1	1	0	0	1	1	5	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:114225544G>A	uc001edk.3	+	20	3535	c.3354G>A	c.(3352-3354)tcG>tcA	p.S1118S	MAGI3_uc001edi.4_3'UTR|MAGI3_uc010owm.2_3'UTR|MAGI3_uc001edj.3_3'UTR|MAGI3_uc009wgo.3_Non-coding_Transcript	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1143	PDZ 6.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.S1118S(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAATCCTTCGTCTTCAAATG	0.318													A	114225544	G	A	114225544	2	1	237	1	0	0	0	0	0	0	0	1	9267	1132	40	1		1	MAGI3	1	114225544	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	45277130	114225544	135025077	6	16383											
AQP10	89872	broad.mit.edu	37	chr1	154296100	154296100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgattgtggggctcttGgccatcctggacagacggaa	8	10	14	9	1	1	2	0	1	1	1	2	4	2	4	2	5	1	2	2	5	1	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:154296100G>C	uc001feu.3	+	4	565	c.525G>C	c.(523-525)ttG>ttC	p.L175F	ATP8B2_uc001few.3_5'Flank	NM_080429	NP_536354	Q96PS8	AQP10_HUMAN	Homo sapiens aquaporin 10 (AQP10), mRNA.	175					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGGCTCTTGGCCATCCTGG	0.607													C	154296100	G	C	154296100	3	2	237	1	0	0	0	0	1	0	0	0	825	1339	47	4	543	4	AQP10	1	154296100	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	40070556	154296100	94954521	7	16384											
MPZL1	9019	broad.mit.edu	37	chr1	167734984	167734984	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggccgacactactgtgTcggtaagaatgcttgacttc	9	10	13	9	2	0	2	0	1	0	1	2	3	0	2	1	3	2	2	1	3	3	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:167734984T>G	uc001geo.3	+	1	458	c.256T>G	c.(256-258)Tcg>Gcg	p.S86A	MPZL1_uc001gen.4_Missense_Mutation_p.S86A|MPZL1_uc001gep.3_Missense_Mutation_p.S86A|MPZL1_uc001geq.3_Missense_Mutation_p.S86A|MPZL1_uc009wvh.3_Non-coding_Transcript	NM_003953	NP_003944	O95297	MPZL1_HUMAN	Homo sapiens myelin protein zero-like 1 (MPZL1), transcript variant 1, mRNA.	86	Ig-like V-type.				cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					CACTACTGTGTCGGTAAGAAT	0.483													G	167734984	T	G	167734984	3	3	237	1	0	0	0	0	1	0	0	0	9825	1667	58	5	262	5	MPZL1	1	167734984	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	13438884	167734984	81515637	8	16385											
JMJD4	65094	broad.mit.edu	37	chr1	227922480	227922480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttcgagttgtattcCtggaccccacagtttgcaac	7	13	11	10	1	0	0	0	0	0	0	2	2	1	1	3	3	2	5	3	3	2	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr1:227922480C>A	uc001hrb.3	-	1	438	c.438G>T	c.(436-438)caG>caT	p.Q146H	SNAP47_uc001hra.2_Intron|SNAP47_uc001hrd.3_5'Flank|SNAP47_uc001hre.3_5'Flank|SNAP47_uc001hrf.2_5'Flank|JMJD4_uc001hrc.3_Missense_Mutation_p.Q146H	NM_023007	NP_075383	Q9H9V9	JMJD4_HUMAN	Homo sapiens jumonji domain containing 4 (JMJD4), transcript variant 1, mRNA.	146										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				AGTTGTATTCCTGGACCCCAC	0.552													A	227922480	C	A	227922480	3	1	237	1	0	0	0	0	1	0	0	0	8009	680	24	4	973	4	JMJD4	1	227922480	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	60187496	227922480	21328141	9	16386											
CAD	790	broad.mit.edu	37	chr2	27449783	27449783	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcgatgggaccttagcaAgttcctgcgagtcagcacaa	10	9	10	12	2	1	0	1	0	0	0	4	3	3	1	3	1	3	3	3	1	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:27449783A>G	uc002rji.3	+	14	2402	c.2240A>G	c.(2239-2241)aAg>aGg	p.K747R	CAD_uc010eyw.3_Missense_Mutation_p.K684R	NM_004341	NP_004332	P27708	PYR1_HUMAN	Homo sapiens carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase (CAD), mRNA.	747	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GACCTTAGCAAGTTCCTGCGA	0.562													G	27449783	A	G	27449783	3	3	237	1	0	0	0	0	1	0	0	0	2591	72	3	3	2298	3	CAD	2	27449783	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08		27449783	215749590	10	16387											
DPP10	57628	broad.mit.edu	37	chr2	116548668	116548668	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtttacagaatattttataTtggaaagcaattctatgctg	13	16	8	4	0	1	1	0	0	1	1	1	2	1	2	0	2	3	3	0	2	8	9			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:116548668T>A	uc002tle.3	+	17	1576	c.1555T>A	c.(1555-1557)Ttg>Atg	p.L519M	DPP10_uc002tla.2_Missense_Mutation_p.L515M|DPP10_uc002tlb.2_Missense_Mutation_p.L465M|DPP10_uc002tlc.2_Missense_Mutation_p.L511M|DPP10_uc002tlf.2_Missense_Mutation_p.L508M	NM_001178034	NP_001171505	Q8N608	DPP10_HUMAN	Homo sapiens dipeptidyl-peptidase 10 (non-functional) (DPP10), transcript variant 3, mRNA.	515					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ATATTTTATATTGGAAAGCAA	0.328													A	116548668	T	A	116548668	3	1	237	1	0	0	0	0	1	0	0	0	4766	1490	52	5	1784	5	DPP10	2	116548668	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	89098885	116548668	126650705	11	16388											
YSK4	80122	broad.mit.edu	37	chr2	135744775	135744775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcttaatgggaccttcaGtagaaatcacaaaattctga	15	11	8	7	0	3	2	2	1	1	1	3	3	3	3	1	2	0	2	1	2	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:135744775G>A	uc002tue.1	-	6	1698	c.1667C>T	c.(1666-1668)aCt>aTt	p.T556I	YSK4_uc002tuf.1_Intron|YSK4_uc010fnc.1_Intron|YSK4_uc010fnd.1_Missense_Mutation_p.T443I|YSK4_uc010zbg.1_Intron|YSK4_uc002tuh.4_Missense_Mutation_p.T284I|YSK4_uc002tui.4_Missense_Mutation_p.T573I	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	556							ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		GGGACCTTCAGTAGAAATCAC	0.428													A	135744775	G	A	135744775	3	1	237	1	0	0	0	0	1	0	0	0	17597	1029	36	2	2335	2	YSK4	2	135744775	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	19196107	135744775	107454598	12	16389											
FAP	2191	broad.mit.edu	37	chr2	163055364	163055365	+	Missense_Mutation	DNP	GC	GC	AA																															tggcaagtaacacacttcttGcttggaggatagcttccaat																										TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:163055364_163055365GC>AA	uc002ucd.3	-	15	1512_1513	c.1304_1305GC>TT	c.(1303-1305)agc>aTT	p.S435I	FAP_uc010fpc.3_5'UTR|FAP_uc010zct.2_Missense_Mutation_p.S410I	NM_004460	NP_004451	Q12884	SEPR_HUMAN	Homo sapiens fibroblast activation protein, alpha (FAP), mRNA.	435					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	p.P434P(1)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CACACTTCTTGCTTGGAGGATA	0.371													AA	163055365	GC	AA	163055364	3	1	237	1	0	0	0	0	1	0	0	0	5722	1310	46	2	1021	2	FAP	2	163055364	Missense_Mutation	DNP	GC	TCGA-32-4210-01A-01D-1353-08	27310589	163055364	80144009	13	16390											
TTN	7273	broad.mit.edu	37	chr2	179421857	179421857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatatcagtgatacgaaCatttcttgggggttctgtgg	10	14	12	5	1	3	2	1	2	2	0	3	3	3	2	0	3	2	1	0	3	4	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179421857C>T	uc021vsy.1	-	278	80545	c.80320G>A	c.(80320-80322)Gtt>Att	p.V26774I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V20469I|TTN_uc021vta.1_Missense_Mutation_p.V20402I|TTN_uc021vtb.1_Missense_Mutation_p.V20277I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	27701	Ig-like 128.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGATACGAACATTTCTTGGG	0.403													T	179421857	C	T	179421857	3	4	237	1	0	0	0	0	1	0	0	0	16837	478	17	2	20087	2	TTN	2	179421857	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	16366493	179421857	63777516	14	16391											
TTN	7273	broad.mit.edu	37	chr2	179483569	179483569	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcttggtcagctgtcttgaTttttggtgcagctagtgaga	6	16	13	6	0	3	2	1	2	2	1	3	3	3	2	0	2	3	3	0	2	1	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179483569T>A	uc021vsy.1	-	199	39229	c.39004A>T	c.(39004-39006)Atc>Ttc	p.I13002F	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.I6697F|TTN_uc021vta.1_Missense_Mutation_p.I6630F|TTN_uc021vtb.1_Missense_Mutation_p.I6505F	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13929	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGTCTTGATTTTTGGTGCA	0.408													A	179483569	T	A	179483569	3	1	237	1	0	0	0	0	1	0	0	0	16837	1493	52	5	61433	5	TTN	2	179483569	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	61712	179483569	63715804	15	16392											
TTN	7273	broad.mit.edu	37	chr2	179485012	179485012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctttctctctggagagctgGcaggagaagacagcgtcatc	9	9	13	10	1	3	3	1	0	2	3	5	5	3	3	0	3	2	3	0	3	1	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr2:179485012G>A	uc021vsy.1	-	196	38757	c.38532C>T	c.(38530-38532)tgC>tgT	p.C12844C	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.C6539C|TTN_uc021vta.1_Silent_p.C6472C|TTN_uc021vtb.1_Silent_p.C6347C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13771	Ig-like 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAGAGCTGGCAGGAGAAGA	0.418													A	179485012	G	A	179485012	2	1	237	1	0	0	0	0	0	0	0	1	16837	1195	42	2		2	TTN	2	179485012	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	1443	179485012	63714361	16	16393											
FGD5	152273	broad.mit.edu	37	chr3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggtggcctggttcccGcggacaggaagaacaccagc	10	4	15	12	2	0	2	0	0	0	2	1	4	1	4	3	5	2	1	3	5	2	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:14861995G>A	uc003bzc.3	+	0	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_uc011avk.2_Missense_Mutation_p.A473T	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642													A	14861995	G	A	14861995	3	1	237	1	0	0	0	0	1	0	0	0	5885	1087	38	1	1419	1	FGD5	3	14861995	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		14861995	183160435	17	16394											
ZBED2	79413	broad.mit.edu	37	chr3	111312849	111312849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgggatggtgcccagcaCgagcaggagctaggtggaaa	10	6	18	7	1	0	0	0	0	0	0	0	4	0	3	1	6	4	4	1	6	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:111312849C>T	uc003dxy.3	-	1	1101	c.200G>A	c.(199-201)cGt>cAt	p.R67H	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.R67H	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	67							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						GTGCCCAGCACGAGCAGGAGC	0.612													T	111312849	C	T	111312849	3	4	237	1	0	0	0	0	1	0	0	0	17620	536	19	1	460	1	ZBED2	3	111312849	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	96450854	111312849	86709581	18	16395											
MFI2	4241	broad.mit.edu	37	chr3	196735736	196735736	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcccacacacttgttGcggccctgctcgtcccccac	4	10	8	19	2	0	0	0	0	0	0	2	0	1	0	4	1	3	3	4	1	0	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr3:196735736G>C	uc003fxk.4	-	11	1740	c.1626C>G	c.(1624-1626)cgC>cgG	p.R542R		NM_005929	NP_005920	P08582	TRFM_HUMAN	Homo sapiens antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5 (MFI2), transcript variant 1, mRNA.	542	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		CACACTTGTTGCGGCCCTGCT	0.642													C	196735736	G	C	196735736	2	2	237	1	0	0	0	0	0	0	0	1	9597	1306	46	4		4	MFI2	3	196735736	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	85422887	196735736	1286694	19	16396											
ARAP2	116984	broad.mit.edu	37	chr4	36231022	36231022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagtagtaaaaccagaCtcatggaaatgtaagagata	18	9	8	6	0	2	2	2	0	0	2	2	4	2	3	1	1	1	3	1	1	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:36231022C>G	uc003gsq.2	-	1	425	c.87G>C	c.(85-87)gaG>gaC	p.E29D	ARAP2_uc003gsr.1_Missense_Mutation_p.E29D	NM_015230	NP_056045	Q8WZ64	ARAP2_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2 (ARAP2), mRNA.	29	SAM.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAACCAGACTCATGGAAAT	0.393													G	36231022	C	G	36231022	3	3	237	1	0	0	0	0	1	0	0	0	842	564	20	4	5155	4	ARAP2	4	36231022	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		36231022	154923254	20	16397											
RBM47	54502	broad.mit.edu	37	chr4	40440160	40440160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctcgatcatgaggttgcGcacgtagaggatcttcacgg	8	10	14	9	4	4	2	2	1	2	1	5	4	4	3	0	4	1	3	0	4	1	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:40440160G>A	uc003gvc.2	-	3	1461	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C	RBM47_uc003gvd.2_Missense_Mutation_p.R251C|RBM47_uc003gve.2_Non-coding_Transcript|RBM47_uc011bys.1_Missense_Mutation_p.R213C|RBM47_uc003gvg.1_Missense_Mutation_p.R251C	NM_001098634	NP_001092104	A0AV96	RBM47_HUMAN	Homo sapiens RNA binding motif protein 47 (RBM47), transcript variant 1, mRNA.	251	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGAGGTTGCGCACGTAGAGG	0.617													A	40440160	G	A	40440160	3	1	237	1	0	0	0	0	1	0	0	0	13229	1087	38	1	1046	1	RBM47	4	40440160	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	4209138	40440160	150714116	21	16398											
UBA6	55236	broad.mit.edu	37	chr4	68543331	68543331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatggagtactaacctGgtatttatctaaaaaggaga	18	10	8	5	0	1	1	0	0	1	1	1	3	1	2	1	3	2	2	1	3	9	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:68543331G>T	uc003hdg.4	-	5	515	c.463C>A	c.(463-465)Cag>Aag	p.Q155K	UBA6_uc003hdi.3_Missense_Mutation_p.Q155K|UBA6_uc003hdj.2_Missense_Mutation_p.Q155K	NM_018227	NP_060697	A0AVT1	UBA6_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 6 (UBA6), mRNA.	155					protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						GTACTAACCTGGTATTTATCT	0.308													T	68543331	G	T	68543331	3	4	237	1	0	0	0	0	1	0	0	0	16934	1357	47	4	2807	4	UBA6	4	68543331	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	28103171	68543331	122610945	22	16399											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69344650	69344650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctcaagcttacaatgacGccataactcctagaatgtta	15	10	5	11	1	1	2	1	1	0	1	2	2	2	2	3	0	4	2	3	0	8	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:69344650G>A	uc003hdz.4	+	8	1115	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_014058	NP_054777	Q9UL52	TM11E_HUMAN	Homo sapiens transmembrane protease, serine 11E (TMPRSS11E), mRNA.	351	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTACAATGACGCCATAACTCC	0.388													A	69344650	G	A	69344650	3	1	237	1	0	0	0	0	1	0	0	0	16342	1087	38	1	1085	1	TMPRSS11E	4	69344650	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	801319	69344650	121809626	23	16400											
PTPN13	5783	broad.mit.edu	37	chr4	87671855	87671855	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaaagcttcatgggaggaAaagcctagagagatgagtaa	17	6	13	5	0	1	3	1	1	0	2	1	7	1	5	1	2	2	2	1	2	5	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:87671855A>G	uc003hpz.3	+	17	3363	c.2883A>G	c.(2881-2883)gaA>gaG	p.E961E	PTPN13_uc003hpy.3_Silent_p.E961E|PTPN13_uc003hqa.3_Silent_p.E961E|PTPN13_uc003hqb.3_Intron	NM_080683	NP_542414	Q12923	PTN13_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase) (PTPN13), transcript variant 1, mRNA.	961						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		CATGGGAGGAAAAGCCTAGAG	0.438													G	87671855	A	G	87671855	2	3	237	1	0	0	0	0	0	0	0	1	12868	11	1	3		3	PTPN13	4	87671855	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	18327205	87671855	103482421	24	16401											
CCNA2	890	broad.mit.edu	37	chr4	122744710	122744710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggtcctcttggagcGccgtctgctgcaatgctagc	4	12	11	14	2	3	0	0	0	3	0	5	1	4	1	3	2	5	3	3	2	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:122744710G>A	uc003iec.4	-	0	379	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_001237	NP_001228	P20248	CCNA2_HUMAN	Homo sapiens cyclin A2 (CCNA2), mRNA.	25					cell division|mitosis|mitotic cell cycle G2/M transition DNA damage checkpoint|Ras protein signal transduction|regulation of cyclin-dependent protein kinase activity	cytoplasm|nucleoplasm	protein kinase binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	12						CTCTTGGAGCGCCGTCTGCTG	0.692													A	122744710	G	A	122744710	3	1	237	1	0	0	0	0	1	0	0	0	2940	1087	38	1	1256	1	CCNA2	4	122744710	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	35072855	122744710	68409566	25	16402											
SMARCA5	8467	broad.mit.edu	37	chr4	144461639	144461639	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactggattcaatagtcAttcaacaaggtaagccatgg	14	10	9	8	0	4	1	4	0	0	1	4	2	4	2	1	3	2	1	1	3	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:144461639A>T	uc003ijg.3	+	13	2356	c.1894A>T	c.(1894-1896)Att>Ttt	p.I632F		NM_003601	NP_003592	O60264	SMCA5_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5 (SMARCA5), mRNA.	632	Helicase C-terminal.				CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					TTCAATAGTCATTCAACAAGG	0.363													T	144461639	A	T	144461639	3	4	237	1	0	0	0	0	1	0	0	0	14865	217	8	5	1948	5	SMARCA5	4	144461639	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	21716929	144461639	46692637	26	16403											
C4orf45	152940	broad.mit.edu	37	chr4	159881481	159881481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgaatcaagagaagcttGacttagttcttcatactgta	13	15	7	6	0	3	3	2	2	1	1	3	4	3	3	0	0	2	3	0	0	7	8			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr4:159881481G>T	uc003iqf.1	-	2	398	c.313C>A	c.(313-315)Caa>Aaa	p.Q105K	C4orf45_uc010iqt.1_Intron	NM_152543	NP_689756	Q96LM5	CD045_HUMAN	Homo sapiens chromosome 4 open reading frame 45 (C4orf45), mRNA.	105										large_intestine(2)|lung(3)	5						AGAGAAGCTTGACTTAGTTCT	0.308													T	159881481	G	T	159881481	3	4	237	1	0	0	0	0	1	0	0	0	2295	1299	45	4	259	4	C4orf45	4	159881481	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	15419842	159881481	31272795	27	16404											
PLEKHG4B	153478	broad.mit.edu	37	chr5	140833	140833	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgcaccaaagaggaaggTaaatgctccccacgccctcc	11	5	10	15	1	0	1	0	0	0	1	2	2	2	2	5	3	2	4	5	3	4	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140833T>G	uc003jak.2	+	1	459	c.409_splice	c.e1+2	p.D137_splice		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	137					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AAGAGGAAGGTAAATGCTCCC	0.642													G	140833	T	G	140833	5	3	237	1	0	0	0	0	0	0	1	0	12149	1652	57	5	413	5	PLEKHG4B	5	140833	Splice_Site	SNP	T	TCGA-32-4210-01A-01D-1353-08		140833	180774427	28	16405											
CTNND2	1501	broad.mit.edu	37	chr5	11199757	11199757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtccaccaggagctggatgCctccttgtctccttatctga	6	12	10	13	0	2	1	0	1	2	0	5	3	4	3	5	3	2	1	5	3	1	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:11199757C>T	uc003jfa.1	-	10	1923	c.1778G>A	c.(1777-1779)gGc>gAc	p.G593D	CTNND2_uc010itt.2_Missense_Mutation_p.G502D|CTNND2_uc011cmy.1_Missense_Mutation_p.G256D|CTNND2_uc011cmz.1_Missense_Mutation_p.G160D|CTNND2_uc010itu.1_Non-coding_Transcript|CTNND2_uc011cmx.1_Missense_Mutation_p.G160D	NM_001332	NP_001323	Q9UQB3	CTND2_HUMAN	Homo sapiens catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) (CTNND2), mRNA.	593					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GAGCTGGATGCCTCCTTGTCT	0.473													T	11199757	C	T	11199757	3	4	237	1	0	0	0	0	1	0	0	0	4053	739	26	2	1947	2	CTNND2	5	11199757	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	11058924	11199757	169715503	29	16406											
PTGER4	5734	broad.mit.edu	37	chr5	40681332	40681332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccggtgaccatcgccacGtacatgaagggccaatggcc	10	5	12	14	3	0	2	0	2	0	0	1	2	0	2	5	3	2	1	5	3	3	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:40681332G>A	uc003jlz.3	+	1	829	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_000958	NP_000949	P35408	PE2R4_HUMAN	Homo sapiens prostaglandin E receptor 4 (subtype EP4) (PTGER4), mRNA.	79					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCATCGCCACGTACATGAAGG	0.607											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	40681332	G	A	40681332	2	1	237	1	0	0	0	0	0	0	0	1	12831	1132	40	1		1	PTGER4	5	40681332	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	29481575	40681332	140233928	30	16407											
THBS4	7060	broad.mit.edu	37	chr5	79373950	79373950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcgacgtctgcccagagaAcgcagaggtcaccctgaccg	10	5	12	14	4	2	3	1	1	1	2	3	6	2	3	3	1	2	1	3	1	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:79373950A>G	uc021yaw.1	+	16	2356	c.2165A>G	c.(2164-2166)aAc>aGc	p.N722S	BC047373_uc003kgi.4_Intron	NM_003248	NP_003239	P35443	TSP4_HUMAN	Homo sapiens thrombospondin 4 (THBS4), mRNA.	722					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGCCCAGAGAACGCAGAGGTC	0.592													G	79373950	A	G	79373950	3	3	237	1	0	0	0	0	1	0	0	0	15956	43	2	3	2231	3	THBS4	5	79373950	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	38692618	79373950	101541310	31	16408											
GPR98	84059	broad.mit.edu	37	chr5	90021005	90021005	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgaagaaaagccttctCttaacagtgtgtttacattc	14	13	7	7	0	1	2	0	1	1	1	3	3	1	2	1	0	3	1	1	0	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:90021005C>A	uc003kju.3	+	46	10105	c.10009C>A	c.(10009-10011)Ctt>Att	p.L3337I	GPR98_uc003kjt.3_Missense_Mutation_p.L1043I|GPR98_uc003kjv.3_Missense_Mutation_p.L937I	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3337					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGCCTTCTCTTAACAGTGT	0.264													A	90021005	C	A	90021005	3	1	237	1	0	0	0	0	1	0	0	0	6776	913	32	4	10195	4	GPR98	5	90021005	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	10647055	90021005	90894255	32	16409											
PCDHB1	29930	broad.mit.edu	37	chr5	140432384	140432384	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatagaggtgctaatatcCgacgttaatgacaatcctcc	13	11	8	9	2	0	3	0	2	0	1	3	4	3	3	3	1	1	2	3	1	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:140432384C>T	uc003lik.1	+	0	1406	c.1329C>T	c.(1327-1329)tcC>tcT	p.S443S		NM_013340	NP_037472	Q9Y5F3	PCDB1_HUMAN	Homo sapiens protocadherin beta 1 (PCDHB1), mRNA.	443	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTAATATCCGACGTTAATG	0.448													T	140432384	C	T	140432384	2	4	237	1	0	0	0	0	0	0	0	1	11610	639	23	1		1	PCDHB1	5	140432384	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	50411379	140432384	40482876	33	16410											
FAM71B	153745	broad.mit.edu	37	chr5	156589852	156589852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttttgtcatctctcgtgTttttatggccagatgcggac	5	18	9	9	2	2	1	1	0	1	1	4	2	2	2	1	2	1	1	1	2	1	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:156589852T>C	uc003lwn.3	-	1	1524	c.1424A>G	c.(1423-1425)aAc>aGc	p.N475S		NM_130899	NP_570969	Q8TC56	FA71B_HUMAN	Homo sapiens family with sequence similarity 71, member B (FAM71B), mRNA.	475						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATCTCTCGTGTTTTTATGGCC	0.527													C	156589852	T	C	156589852	3	2	237	1	0	0	0	0	1	0	0	0	5658	1725	60	3	397	3	FAM71B	5	156589852	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	16157468	156589852	24325408	34	16411											
GABRA6	2559	broad.mit.edu	37	chr5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataaagtgctcacgagagCgcccatcttacaatcaacac	15	7	6	13	2	3	1	2	0	1	1	3	2	3	1	1	0	4	1	1	0	6	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr5:161128598C>T	uc003lyu.2	+	8	1519	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	GABRA6_uc003lyv.2_Missense_Mutation_p.A165V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	394					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)			T	161128598	C	T	161128598	3	4	237	1	0	0	0	0	1	0	0	0	6217	768	27	1	1215	1	GABRA6	5	161128598	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	4538746	161128598	19786662	35	16412											
MDC1	9656	broad.mit.edu	37	chr6	30675376	30675376	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggggctcactggggatcCccttccacctgactggctcc	4	9	11	17	0	1	1	1	1	0	0	4	2	4	2	6	5	0	2	6	5	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:30675376C>A	uc003nrg.4	-	7	3420	c.2980G>T	c.(2980-2982)Gga>Tga	p.G994*	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Intron	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	994				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						ACTGGGGATCCCCTTCCACCT	0.637								Other conserved DNA damage response genes					A	30675376	C	A	30675376	4	1	237	1	0	0	0	0	0	1	0	0	9478	632	22	4	3321	4	MDC1	6	30675376	Nonsense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		30675376	140439691	36	16413											
DST	667	broad.mit.edu	37	chr6	56476386	56476386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggttgatatttcctcActggaaatctgtaaggtaaa	11	16	8	6	0	3	1	1	1	2	0	4	2	4	2	1	3	0	3	1	3	5	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:56476386A>G	uc003pcy.4	-	23	3564	c.3456T>C	c.(3454-3456)agT>agC	p.S1152S	DST_uc021zax.1_Silent_p.S1152S	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	3556					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATATTTCCTCACTGGAAATCT	0.333													G	56476386	A	G	56476386	2	3	237	1	0	0	0	0	0	0	0	1	4822	156	6	3		3	DST	6	56476386	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	25801010	56476386	114638681	37	16414											
PTP4A1	7803	broad.mit.edu	37	chr6	64289185	64289185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagtacttgttgccctagCattaattgaaggtggaatga	11	13	10	7	0	0	2	0	2	0	0	1	3	1	3	2	2	3	3	2	2	5	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:64289185C>A	uc003pek.3	+	6	1339	c.353C>A	c.(352-354)gCa>gAa	p.A118E	PTP4A1_uc003pel.3_Missense_Mutation_p.A118E|PTP4A1_uc021zbm.1_Non-coding_Transcript	NM_003463	NP_003454	Q93096	TP4A1_HUMAN	Homo sapiens protein tyrosine phosphatase type IVA, member 1 (PTP4A1), mRNA.	118	Interaction with ATF5 (By similarity).|Tyrosine-protein phosphatase.				cell cycle|multicellular organismal development	early endosome|endoplasmic reticulum|internal side of plasma membrane|spindle	protein binding|protein tyrosine phosphatase activity			large_intestine(3)|lung(4)|skin(1)	8	all_cancers(3;0.071)|all_epithelial(2;0.0146)|Lung NSC(77;0.175)		Epithelial(2;0.0365)|LUSC - Lung squamous cell carcinoma(74;0.0644)|all cancers(2;0.112)|Lung(124;0.13)			GTTGCCCTAGCATTAATTGAA	0.328													A	64289185	C	A	64289185	3	1	237	1	0	0	0	0	1	0	0	0	12856	710	25	4	367	4	PTP4A1	6	64289185	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	7812799	64289185	106825882	38	16415											
C6orf170	221322	broad.mit.edu	37	chr6	121433663	121433663	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcttacagaaatatgtagCcttggcaaccaaagaaaagc	17	8	8	8	0	1	2	0	0	1	2	1	2	1	2	2	1	4	2	2	1	8	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:121433663C>G	uc003pyo.1	-	28	3380	c.3312G>C	c.(3310-3312)agG>agC	p.R1104S		NM_152730	NP_689943	Q96NH3	BROMI_HUMAN	Homo sapiens chromosome 6 open reading frame 170 (C6orf170), mRNA.	1104					multicellular organismal development	cilium|cytoplasm	Rab GTPase activator activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	55				GBM - Glioblastoma multiforme(226;0.00521)		AAATATGTAGCCTTGGCAACC	0.338													G	121433663	C	G	121433663	3	3	237	1	0	0	0	0	1	0	0	0	2366	738	26	4	477	4	C6orf170	6	121433663	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	57144478	121433663	49681404	39	16416											
GRM1	2911	broad.mit.edu	37	chr6	146708084	146708084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggcctgcaaagagaatgAatatgtgcaagatgagttca	15	8	11	7	1	1	4	1	2	0	2	1	5	1	4	1	1	2	3	1	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:146708084A>T	uc010khw.1	+	6	2131	c.1661A>T	c.(1660-1662)gAa>gTa	p.E554V	GRM1_uc010khv.1_Missense_Mutation_p.E554V|GRM1_uc003qll.2_Missense_Mutation_p.E554V|GRM1_uc011edz.1_Missense_Mutation_p.E554V|GRM1_uc011eea.1_Missense_Mutation_p.E554V	NM_000838	NP_000829	Q13255	GRM1_HUMAN	Homo sapiens glutamate receptor, metabotropic 1 (GRM1), transcript variant 1, mRNA.	554					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	AAAGAGAATGAATATGTGCAA	0.438													T	146708084	A	T	146708084	3	4	237	1	0	0	0	0	1	0	0	0	6851	246	9	5	1683	5	GRM1	6	146708084	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	25274421	146708084	24406983	40	16417											
PLEKHG1	57480	broad.mit.edu	37	chr6	151117039	151117039	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattgcactaactatccaagGtatggatcgagaatgggcca	13	10	10	8	1	0	1	0	0	0	1	2	3	1	2	2	3	2	2	2	3	6	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:151117039G>T	uc011eem.1	+	5	894	c.806_splice	c.e5+1	p.R269_splice	PLEKHG1_uc011eel.1_Splice_Site_p.R250_splice|PLEKHG1_uc003qny.1_Splice_Site_p.R210_splice|PLEKHG1_uc003qnz.2_Splice_Site_p.R210_splice	NM_001029884	NP_001025055	Q9ULL1	PKHG1_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 1 (PLEKHG1), mRNA.	210	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACTATCCAAGGTATGGATCGA	0.403													T	151117039	G	T	151117039	5	4	237	1	0	0	0	0	0	0	1	0	12145	1275	44	4	644	4	PLEKHG1	6	151117039	Splice_Site	SNP	G	TCGA-32-4210-01A-01D-1353-08	4408955	151117039	19998028	41	16418											
SYNE1	23345	broad.mit.edu	37	chr6	152792795	152792795	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacttaatgatccaagacttCagctttgactctgcaagaac	13	12	6	10	0	2	4	1	2	1	2	3	4	3	4	1	0	4	2	1	0	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr6:152792795C>T	uc021zhb.1	-	13	1792	c.1569G>A	c.(1567-1569)ctG>ctA	p.L523L	SYNE1_uc003qot.4_Silent_p.L530L|SYNE1_uc003qou.4_Silent_p.L523L|SYNE1_uc010kjb.1_Silent_p.L506L|SYNE1_uc003qpa.1_Silent_p.L523L|SYNE1_uc003qox.1_Silent_p.L39L|SYNE1_uc003qoz.2_5'UTR|SYNE1_uc003qoy.2_Silent_p.L90L	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	523					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	p.L523L(3)|p.L530L(1)		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)		TCCAAGACTTCAGCTTTGACT	0.438										HNSCC(10;0.0054)			T	152792795	C	T	152792795	2	4	237	1	0	0	0	0	0	0	0	1	15542	813	29	2		2	SYNE1	6	152792795	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1675756	152792795	18322272	42	16419											
SLC29A4	222962	broad.mit.edu	37	chr7	5330388	5330388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgagccagtgcccgatgaCcgttatcacgccatctactt	9	9	9	14	4	2	1	1	1	1	0	2	4	2	1	4	0	3	1	4	0	2	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:5330388C>T	uc003sod.3	+	2	356	c.195C>T	c.(193-195)gaC>gaT	p.D65D	SLC29A4_uc011jwg.1_Non-coding_Transcript|SLC29A4_uc003soc.3_Silent_p.D65D|SLC29A4_uc003soe.3_Silent_p.D65D	NM_153247	NP_694979	Q7RTT9	S29A4_HUMAN	Homo sapiens solute carrier family 29 (nucleoside transporters), member 4 (SLC29A4), transcript variant 2, mRNA.	65					nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	p.D64N(4)		breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		TGCCCGATGACCGTTATCACG	0.587													T	5330388	C	T	5330388	2	4	237	1	0	0	0	0	0	0	0	1	14631	506	18	2		2	SLC29A4	7	5330388	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		5330388	153808275	43	16420											
CPVL	54504	broad.mit.edu	37	chr7	29134756	29134756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggaagtctctgtcacGcactgtgaaaacaaagaaga	15	6	11	9	1	2	3	1	1	1	2	3	4	2	4	1	2	1	1	1	2	5	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:29134756G>A	uc003szv.3	-	4	525	c.406C>T	c.(406-408)Cgt>Tgt	p.R136C	CPVL_uc003szw.3_Missense_Mutation_p.R136C|CPVL_uc003szx.3_Missense_Mutation_p.R136C	NM_031311	NP_112601	Q9H3G5	CPVL_HUMAN	Homo sapiens carboxypeptidase, vitellogenic-like (CPVL), transcript variant 1, mRNA.	136					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TCTCTGTCACGCACTGTGAAA	0.547													A	29134756	G	A	29134756	3	1	237	1	0	0	0	0	1	0	0	0	3866	1087	38	1	1060	1	CPVL	7	29134756	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	23804368	29134756	130003907	44	16421											
RABGEF1	27342	broad.mit.edu	37	chr7	66270262	66270262	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacttcctccccacccTcatctacattgttttgaagg	8	13	7	13	0	2	2	1	2	1	0	4	3	4	3	4	2	1	1	4	2	2	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:66270262T>C	uc003tvf.3	+	11	1791	c.575T>C	c.(574-576)cTc>cCc	p.L192P	RABGEF1_uc003tvg.3_Missense_Mutation_p.L127P|RABGEF1_uc003tvh.3_Missense_Mutation_p.L319P|RABGEF1_uc010lag.3_Missense_Mutation_p.L319P|RABGEF1_uc011kee.2_Missense_Mutation_p.L333P|RABGEF1_uc003tvi.3_Missense_Mutation_p.L153P	NM_014504	NP_055319	Q9UJ41	RABX5_HUMAN	Homo sapiens RAB guanine nucleotide exchange factor (GEF) 1 (RABGEF1), mRNA.	536	Interaction with ubiquitinated proteins.				endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						CTCCCCACCCTCATCTACATT	0.522													C	66270262	T	C	66270262	3	2	237	1	0	0	0	0	1	0	0	0	13054	1551	54	3	982	3	RABGEF1	7	66270262	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	37135506	66270262	92868401	45	16422											
HEPACAM2	253012	broad.mit.edu	37	chr7	92821587	92821587	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctggatggtcttgctgctgGgcagggatgtgctgaataac	7	12	15	7	0	2	1	0	1	2	0	2	3	2	3	0	4	4	4	0	4	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:92821587G>A	uc011khy.2	-	9	1457	c.1434C>T	c.(1432-1434)gcC>gcT	p.A478A	HEPACAM2_uc003uml.3_Silent_p.A443A|HEPACAM2_uc010lff.3_Missense_Mutation_p.P435L|HEPACAM2_uc003umm.3_Silent_p.A455A	NM_198151	NP_937794	A8MVW5	HECA2_HUMAN	Homo sapiens HEPACAM family member 2 (HEPACAM2), transcript variant 2, mRNA.	455						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CTTGCTGCTGGGCAGGGATGT	0.453													A	92821587	G	A	92821587	2	1	237	1	0	0	0	0	0	0	0	1	7108	1219	43	2		2	HEPACAM2	7	92821587	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	26551325	92821587	66317076	46	16423											
CALCR	799	broad.mit.edu	37	chr7	93055835	93055835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagcggttggaggggcGcctcccccaacgctggttcc	6	6	15	14	3	0	1	0	0	0	1	2	2	2	2	4	5	3	4	4	5	1	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:93055835G>A	uc003umv.2	-	15	1660	c.1360C>T	c.(1360-1362)Cgc>Tgc	p.R454C	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R420C|CALCR_uc003umw.2_Missense_Mutation_p.R420C	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	436					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TTGGAGGGGCGCCTCCCCCAA	0.557													A	93055835	G	A	93055835	3	1	237	1	0	0	0	0	1	0	0	0	2605	1087	38	1	170	1	CALCR	7	93055835	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	234248	93055835	66082828	47	16424											
ANKRD7	56311	broad.mit.edu	37	chr7	117864828	117864828	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagaggggcagggcggaCggctaggagttcaagaaaca	12	3	19	7	2	1	2	1	0	0	2	1	4	1	4	0	7	1	4	0	7	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr7:117864828C>T	uc003vji.3	+	0						NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.						male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602													T	117864828	C	T	117864828	1	4	237	1	0	0	0	0	0	0	0	0	686	551	19	1		1	ANKRD7	7	117864828	Translation_Start_Site	SNP	C	TCGA-32-4210-01A-01D-1353-08	24808993	117864828	41273835	48	16425											
PLAT	5327	broad.mit.edu	37	chr8	42037449	42037449	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttccacttacaggccTcatgcttgccgtagccggag	6	11	9	15	2	1	0	1	0	0	0	3	1	3	1	5	2	4	2	5	2	2	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:42037449T>G	uc003xos.2	-	11	1567	c.1358A>C	c.(1357-1359)gAg>gCg	p.E453A	PLAT_uc010lxf.1_Missense_Mutation_p.E370A|PLAT_uc010lxg.1_Missense_Mutation_p.E278A|PLAT_uc003xot.2_Missense_Mutation_p.E407A|PLAT_uc011lcm.1_Missense_Mutation_p.E364A|PLAT_uc011lcn.1_Missense_Mutation_p.E327A	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	453	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CTTACAGGCCTCATGCTTGCC	0.652													G	42037449	T	G	42037449	3	3	237	1	0	0	0	0	1	0	0	0	12098	1551	54	5	342	5	PLAT	8	42037449	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08		42037449	104326573	49	16426											
CYP7B1	9420	broad.mit.edu	37	chr8	65517238	65517238	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataggcttgatgtttacttaCctctggagcttcaaagattt	10	16	8	7	0	2	2	1	1	1	1	2	3	2	3	1	2	3	3	1	2	4	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:65517238C>A	uc003xvj.2	-	5	1437	c.1233_splice	c.e5+1	p.E411_splice		NM_004820	NP_004811	O75881	CP7B1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily B, polypeptide 1 (CYP7B1), mRNA.	411					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGTTTACTTACCTCTGGAGCT	0.493													A	65517238	C	A	65517238	5	1	237	1	0	0	0	0	0	0	1	0	4230	521	18	4	294	4	CYP7B1	8	65517238	Splice_Site	SNP	C	TCGA-32-4210-01A-01D-1353-08	23479789	65517238	80846784	50	16427											
TRAPPC9	83696	broad.mit.edu	37	chr8	141461384	141461384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttatagatcctgaagaagTtctcctcggagacgatgccc	10	11	9	11	2	2	4	0	1	2	3	5	6	3	4	3	1	1	1	3	1	4	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:141461384T>C	uc003yvh.2	-	1	398	c.383A>G	c.(382-384)aAc>aGc	p.N128S	TRAPPC9_uc003yvj.2_Missense_Mutation_p.N30S|TRAPPC9_uc003yvi.1_Missense_Mutation_p.N30S	NM_031466	NP_001153844	Q96Q05	TPPC9_HUMAN	Homo sapiens trafficking protein particle complex 9 (TRAPPC9), transcript variant 1, mRNA.	30					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCTGAAGAAGTTCTCCTCGGA	0.567													C	141461384	T	C	141461384	3	2	237	1	0	0	0	0	1	0	0	0	16566	1725	60	3	3445	3	TRAPPC9	8	141461384	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	75944146	141461384	4902638	51	16428											
ZNF696	79943	broad.mit.edu	37	chr8	144378380	144378380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggcgcacagcggggagAggccctacgcgtgcgccgag	7	2	19	13	7	0	1	0	0	0	1	0	3	0	1	2	4	4	1	2	4	1	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:144378380A>G	uc003yxy.4	+	2	944	c.535A>G	c.(535-537)Agg>Ggg	p.R179G		NM_030895	NP_112157	Q9H7X3	ZN696_HUMAN	Homo sapiens zinc finger protein 696 (ZNF696), mRNA.	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			CAGCGGGGAGAGGCCCTACGC	0.697													G	144378380	A	G	144378380	3	3	237	1	0	0	0	0	1	0	0	0	18200	295	11	3	541	3	ZNF696	8	144378380	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	2916996	144378380	1985642	52	16429											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806268	145806268	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtcccaaacgccgcgggCcgcccggccctcgctggcaa	6	4	12	19	6	0	0	0	0	0	0	2	0	1	0	5	3	1	2	5	3	2	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr8:145806268C>G	uc003zds.1	-	3	1029	c.474G>C	c.(472-474)cgG>cgC	p.R158R	ARHGAP39_uc011llk.1_Silent_p.R158R|ARHGAP39_uc003zdt.1_Silent_p.R158R	NM_025251	NP_079527	Q9C0H5	RHG39_HUMAN	Homo sapiens Rho GTPase activating protein 39 (ARHGAP39), mRNA.	158					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						ACGCCGCGGGCCGCCCGGCCC	0.721													G	145806268	C	G	145806268	2	3	237	1	0	0	0	0	0	0	0	1	887	726	26	4		4	ARHGAP39	8	145806268	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1427888	145806268	557754	53	16430											
ARID3C	138715	broad.mit.edu	37	chr9	34623425	34623425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcccctcgcaccttTcttaatagggcttggactca	7	13	6	15	1	3	0	1	0	2	0	5	1	3	1	4	2	0	2	4	2	2	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:34623425T>C	uc011lon.2	-	3	862	c.862A>G	c.(862-864)Aaa>Gaa	p.K288E	DCTN3_uc003zuw.1_5'Flank|DCTN3_uc003zux.1_5'Flank	NM_001017363	NP_001017363	A6NKF2	ARI3C_HUMAN	Homo sapiens AT rich interactive domain 3C (BRIGHT-like) (ARID3C), mRNA.	288	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CTCGCACCTTTCTTAATAGGG	0.592													C	34623425	T	C	34623425	3	2	237	1	0	0	0	0	1	0	0	0	921	1792	62	3	391	3	ARID3C	9	34623425	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08		34623425	106590006	54	16431											
FAM75A6	389730	broad.mit.edu	37	chr9	43628658	43628658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagttgtgaaagaaggtccGaagtctcctccaggcctctc	9	9	11	12	1	2	2	0	1	2	1	6	3	4	2	4	2	0	2	4	2	3	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:43628658G>A	uc011lrb.2	-	2	313	c.284C>T	c.(283-285)tCg>tTg	p.S95L		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	95						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						AAGAAGGTCCGAAGTCTCCTC	0.612													A	43628658	G	A	43628658	3	1	237	1	0	0	0	0	1	0	0	0	5672	1059	37	1	3755	1	FAM75A6	9	43628658	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	9005233	43628658	97584773	55	16432											
SLC28A3	64078	broad.mit.edu	37	chr9	86928326	86928326	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctctgcttcttattgagTtgtttcctgatgtgttctcg	4	19	9	9	1	3	2	0	2	3	0	5	2	4	2	1	0	2	5	1	0	1	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:86928326T>A	uc010mpz.3	-	1	250	c.104A>T	c.(103-105)aAc>aTc	p.N35I	SLC28A3_uc011lsy.2_5'UTR|SLC28A3_uc004anu.2_Missense_Mutation_p.N35I|SLC28A3_uc010mqb.3_5'UTR	NM_001199633	NP_001186562	Q9HAS3	S28A3_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 3 (SLC28A3), transcript variant 1, mRNA.	35					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCTTATTGAGTTGTTTCCTGA	0.418													A	86928326	T	A	86928326	3	1	237	1	0	0	0	0	1	0	0	0	14627	1725	60	5	2039	5	SLC28A3	9	86928326	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	43299668	86928326	54285105	56	16433											
ROR2	4920	broad.mit.edu	37	chr9	94487296	94487296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcccccggggcagggcCgaacaggtgacctttgtaga	7	7	14	13	2	0	2	0	1	0	1	1	3	1	2	4	4	2	3	4	4	2	2	rs138310082	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:94487296C>T	uc004arj.2	-	8	1679	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	ROR2_uc004ari.1_Missense_Mutation_p.G354S	NM_004560	NP_004551	Q01974	ROR2_HUMAN	Homo sapiens receptor tyrosine kinase-like orphan receptor 2 (ROR2), mRNA.	494	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCAGGGCCGAACAGGTGA	0.602													T	94487296	C	T	94487296	3	4	237	1	0	0	0	0	1	0	0	0	13618	652	23	1	1355	1	ROR2	9	94487296	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	7558970	94487296	46726135	57	16434											
ZBTB34	403341	broad.mit.edu	37	chr9	129643102	129643102	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagaacagatgtgtacgTggaacagaaactagaaaatg	18	6	12	5	2	0	4	0	0	0	4	0	7	0	5	0	1	4	1	0	1	7	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:129643102T>G	uc022bnn.1	+	0	1412	c.1412T>G	c.(1411-1413)gTg>gGg	p.V471G	ZBTB34_uc004bqm.4_Missense_Mutation_p.V471G	NM_001099270	NP_001092740	Q8NCN2	ZBT34_HUMAN	Homo sapiens zinc finger and BTB domain containing 34 (ZBTB34), mRNA.	471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATGTGTACGTGGAACAGAAA	0.507													G	129643102	T	G	129643102	3	3	237	1	0	0	0	0	1	0	0	0	17638	1696	59	5	1414	5	ZBTB34	9	129643102	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	35155806	129643102	11570329	58	16435											
PRDM12	59335	broad.mit.edu	37	chr9	133556658	133556658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttccacccggcggactcgGcggctggccccgcgggccgc	3	4	15	19	7	0	0	0	0	0	0	2	1	1	1	5	6	0	1	5	6	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr9:133556658G>A	uc004bzt.1	+	4	766	c.706G>A	c.(706-708)Gcg>Acg	p.A236T		NM_021619	NP_067632	Q9H4Q4	PRD12_HUMAN	Homo sapiens PR domain containing 12 (PRDM12), mRNA.	236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GGCGGACTCGGCGGCTGGCCC	0.726													A	133556658	G	A	133556658	3	1	237	1	0	0	0	0	1	0	0	0	12539	1203	42	2	724	2	PRDM12	9	133556658	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	3913556	133556658	7656773	59	16436											
ITGA8	8516	broad.mit.edu	37	chr10	15701007	15701007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctctacctgttctccCgtgaaattctgaataaacgt	11	14	6	10	2	3	2	0	2	3	0	5	2	3	2	2	0	2	1	2	0	6	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:15701007C>T	uc001ioc.1	-	9	939	c.939G>A	c.(937-939)acG>acA	p.T313T	ITGA8_uc010qcb.1_Silent_p.T298T	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	313					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CCTGTTCTCCCGTGAAATTCT	0.328													T	15701007	C	T	15701007	2	4	237	1	0	0	0	0	0	0	0	1	7940	639	23	1		1	ITGA8	10	15701007	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		15701007	119833740	60	16437											
PTCHD3	374308	broad.mit.edu	37	chr10	27702997	27702997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgcatcctgctccgaCgccaggggtcctgagggttc	5	8	16	12	2	0	1	0	1	0	0	4	2	3	1	4	5	2	3	4	5	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:27702997C>T	uc001itu.2	-	0	301	c.183G>A	c.(181-183)gcG>gcA	p.A61A		NM_001034842	NP_001030014	Q3KNS1	PTHD3_HUMAN	Homo sapiens patched domain containing 3 (PTCHD3), mRNA.	61					spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCTCCGACGCCAGGGGTC	0.687													T	27702997	C	T	27702997	2	4	237	1	0	0	0	0	0	0	0	1	12819	523	19	1		1	PTCHD3	10	27702997	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	12001990	27702997	107831750	61	16438											
PTEN	5728	broad.mit.edu	37	chr10	89717691	89717691	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgggaagacaagttcaTgtactttgagttccctcagc	11	10	10	10	2	2	2	2	1	0	1	3	4	3	3	1	1	2	3	1	1	3	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:89717691T>G	uc001kfb.3	+	6	1748	c.716T>G	c.(715-717)aTg>aGg	p.M239R	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	239	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K237_Y240>N(2)|p.G165_*404del(1)|p.?(1)|p.G165_K342del(1)|p.M239fs*4(1)|p.R234fs*9(1)|p.F238L(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAGTTCATGTACTTTGAG	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89717691	T	G	89717691	3	3	237	1	0	0	0	0	1	0	0	0	12823	1464	51	5	742	5	PTEN	10	89717691	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	62014694	89717691	45817056	62	16439											
NFKB2	4791	broad.mit.edu	37	chr10	104156679	104156679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatctgtaactacgagggaCcagccaagatcgaggtggac	13	6	13	9	2	1	2	0	0	1	2	2	6	1	4	2	3	3	1	2	3	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr10:104156679C>T	uc001kvb.3	+	5	527	c.262C>T	c.(262-264)Cca>Tca	p.P88S	NFKB2_uc001kva.3_Missense_Mutation_p.P88S|NFKB2_uc010qqk.1_Missense_Mutation_p.P88S|NFKB2_uc001kvd.3_Missense_Mutation_p.P88S|NFKB2_uc009xxc.3_Missense_Mutation_p.P88S	NM_001077494	NP_001070962	Q00653	NFKB2_HUMAN	Homo sapiens nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100) (NFKB2), transcript variant 1, mRNA.	88	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		CTACGAGGGACCAGCCAAGAT	0.602			T	IGH@	B-NHL								T	104156679	C	T	104156679	3	4	237	1	0	0	0	0	1	0	0	0	10452	507	18	2	280	2	NFKB2	10	104156679	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	14438988	104156679	31378068	63	16440											
LRRC56	115399	broad.mit.edu	37	chr11	554078	554078	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcagtccagggggcgTcggctccgagtcctgggcag	5	6	17	13	3	0	0	0	0	0	0	4	2	3	0	4	4	1	3	4	4	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:554078T>C	uc010qvz.2	+	13	1936	c.1431T>C	c.(1429-1431)cgT>cgC	p.R477R		NM_198075	NP_932341	Q8IYG6	LRC56_HUMAN	Homo sapiens leucine rich repeat containing 56 (LRRC56), mRNA.	477										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCAGGGGGCGTCGGCTCCGAG	0.697													C	554078	T	C	554078	2	2	237	1	0	0	0	0	0	0	0	1	9082	1654	58	3		3	LRRC56	11	554078	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08		554078	134452438	64	16441											
WEE1	7465	broad.mit.edu	37	chr11	9608358	9608358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	aaagagtgcagaacaattacGaatagaattgaatgccgaaa	20	7	9	5	2	0	4	0	1	0	3	0	6	0	4	1	0	4	1	1	0	9	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:9608358G>C	uc001mhs.3	+	9	1995	c.1742G>C	c.(1741-1743)cGa>cCa	p.R581P	WEE1_uc001mht.3_Missense_Mutation_p.R367P	NM_003390	NP_001137448	P30291	WEE1_HUMAN	Homo sapiens WEE1 homolog (S. pombe) (WEE1), transcript variant 1, mRNA.	581					blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.L580F(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		GAACAATTACGAATAGAATTG	0.348													C	9608358	G	C	9608358	3	2	237	1	0	0	0	0	1	0	0	0	17446	1058	37	4	1780	4	WEE1	11	9608358	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	9054280	9608358	125398158	65	16442											
CHRM4	1132	broad.mit.edu	37	chr11	46407321	46407321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcgcagctcctcccgggCggcctccccgggcgggggct	2	6	16	17	5	0	0	0	0	0	0	3	0	3	0	5	5	2	3	5	5	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:46407321C>T	uc001nct.1	-	0	787	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_000741	NP_000732	P08173	ACM4_HUMAN	Homo sapiens cholinergic receptor, muscarinic 4 (CHRM4), mRNA.	263					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	TCCTCCCGGGCGGCCTCCCCG	0.682													T	46407321	C	T	46407321	3	4	237	1	0	0	0	0	1	0	0	0	3409	768	27	1	656	1	CHRM4	11	46407321	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	36798963	46407321	88599195	66	16443											
OR8H3	390152	broad.mit.edu	37	chr11	55890095	55890095	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtcgtcacacctaaaaccTtagcgaacttactgacttcc	11	11	5	14	2	1	1	1	1	0	0	3	2	2	1	3	0	4	0	3	0	5	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:55890095T>A	uc001nii.1	+	0	247	c.247T>A	c.(247-249)Tta>Ata	p.L83I		NM_001005201	NP_001005201	Q8N146	OR8H3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 3 (OR8H3), mRNA.	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					ACCTAAAACCTTAGCGAACTT	0.438													A	55890095	T	A	55890095	3	1	237	1	0	0	0	0	1	0	0	0	11315	1606	56	5	249	5	OR8H3	11	55890095	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	9482774	55890095	79116421	67	16444											
OR5M11	219487	broad.mit.edu	37	chr11	56310099	56310099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcataggacaccaagacgAtggtgagggagctggagagg	13	4	18	6	1	0	3	0	1	0	2	0	7	0	5	1	6	1	2	1	6	2	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:56310099A>T	uc010rjl.2	-	0	635	c.635T>A	c.(634-636)aTc>aAc	p.I212N	OR8U8_uc001nit.2_Intron	NM_001005245	NP_001005245	Q96RB7	OR5MB_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily M, member 11 (OR5M11), mRNA.	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CACCAAGACGATGGTGAGGGA	0.502													T	56310099	A	T	56310099	3	4	237	1	0	0	0	0	1	0	0	0	11250	333	12	5	285	5	OR5M11	11	56310099	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	420004	56310099	78696417	68	16445											
AHNAK	79026	broad.mit.edu	37	chr11	62297453	62297453	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcaggagcttttatcTctccttctacttttggaact	9	16	5	11	0	3	0	1	0	2	0	5	2	4	2	1	2	4	1	1	2	4	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:62297453T>A	uc001ntl.3	-	4	4736	c.4436A>T	c.(4435-4437)gAg>gTg	p.E1479V	AHNAK_uc001ntk.1_Intron	NM_001620	NP_001611	Q09666	AHNK_HUMAN	Homo sapiens AHNAK nucleoprotein (AHNAK), transcript variant 1, mRNA.	1479					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGCTTTTATCTCTCCTTCTAC	0.418													A	62297453	T	A	62297453	3	1	237	1	0	0	0	0	1	0	0	0	414	1551	54	5	13356	5	AHNAK	11	62297453	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	5987354	62297453	72709063	69	16446											
PLCB3	5331	broad.mit.edu	37	chr11	64024115	64024115	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtccatggagggctttagCcgctacctgggaggcgagga	8	8	16	9	2	0	0	0	0	0	0	1	4	1	3	3	5	2	2	3	5	2	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64024115C>T	uc009ypi.3	+	9	1018	c.891C>T	c.(889-891)agC>agT	p.S297S	PLCB3_uc009ypg.2_Silent_p.S297S|PLCB3_uc009yph.2_Silent_p.S230S	NM_000932	NP_000923	Q01970	PLCB3_HUMAN	Homo sapiens phospholipase C, beta 3 (phosphatidylinositol-specific) (PLCB3), transcript variant 1, mRNA.	297					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						AGGGCTTTAGCCGCTACCTGG	0.632													T	64024115	C	T	64024115	2	4	237	1	0	0	0	0	0	0	0	1	12106	738	26	2		2	PLCB3	11	64024115	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	1726662	64024115	70982401	70	16447											
ATG2A	23130	broad.mit.edu	37	chr11	64668368	64668368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcacctgtggccggggTgggggccaaagtctcggccc	4	7	15	15	2	2	0	1	0	1	0	4	0	3	0	5	6	0	0	5	6	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:64668368T>G	uc001obx.3	-	29	4431	c.4316A>C	c.(4315-4317)cAc>cCc	p.H1439P	ATG2A_uc001obw.3_Missense_Mutation_p.H204P	NM_015104	NP_055919	Q2TAZ0	ATG2A_HUMAN	Homo sapiens ATG2 autophagy related 2 homolog A (S. cerevisiae) (ATG2A), mRNA.	1439							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GTGGCCGGGGTGGGGGCCAAA	0.657													G	64668368	T	G	64668368	3	3	237	1	0	0	0	0	1	0	0	0	1098	1696	59	5	1548	5	ATG2A	11	64668368	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	644253	64668368	70338148	71	16448											
TMPRSS4	56649	broad.mit.edu	37	chr11	117975409	117975409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctttcctcccagtccGcctctccaaggaccgatcca	6	10	7	18	2	1	0	0	0	1	0	7	2	6	1	8	2	0	1	8	2	1	2	rs140457645	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:117975409G>A	uc021qrd.1	+	4	605	c.314G>A	c.(313-315)cGc>cAc	p.R105H	TMPRSS4_uc009yzu.3_Non-coding_Transcript|TMPRSS4_uc021qre.1_Missense_Mutation_p.R105H|TMPRSS4_uc010rxo.2_Missense_Mutation_p.R103H|TMPRSS4_uc010rxs.2_Missense_Mutation_p.R65H|TMPRSS4_uc010rxq.2_5'UTR|TMPRSS4_uc010rxr.2_Missense_Mutation_p.R80H|TMPRSS4_uc010rxt.2_Missense_Mutation_p.R80H	NM_019894	NP_063947	Q9NRS4	TMPS4_HUMAN	Homo sapiens transmembrane protease, serine 4 (TMPRSS4), transcript variant 1, mRNA.	105	SRCR.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0431)|all_hematologic(192;0.164)|Breast(348;0.183)|all_neural(223;0.238)		BRCA - Breast invasive adenocarcinoma(274;4.16e-05)|Epithelial(105;0.00204)		CTCCCAGTCCGCCTCTCCAAG	0.587													A	117975409	G	A	117975409	3	1	237	1	0	0	0	0	1	0	0	0	16349	1087	38	1	332	1	TMPRSS4	11	117975409	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	53307041	117975409	17031107	72	16449											
C11orf63	79864	broad.mit.edu	37	chr11	122775064	122775064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacattttgtggaaaaaaAcaagctcactttgggattac	16	11	7	7	0	1	0	1	0	0	0	1	2	1	2	0	2	4	1	0	2	6	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr11:122775064A>G	uc001pym.3	+	2	1073	c.776A>G	c.(775-777)aAc>aGc	p.N259S	C11orf63_uc001pyl.1_Missense_Mutation_p.N259S	NM_024806	NP_079082	Q6NUN7	CK063_HUMAN	Homo sapiens chromosome 11 open reading frame 63 (C11orf63), transcript variant 1, mRNA.	259										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GTGGAAAAAAACAAGCTCACT	0.463													G	122775064	A	G	122775064	3	3	237	1	0	0	0	0	1	0	0	0	1666	43	2	3	782	3	C11orf63	11	122775064	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	4799655	122775064	12231452	73	16450											
NR4A1	3164	broad.mit.edu	37	chr12	52451228	52451228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcggggactggattgacaGtatcctggccttctcaaggt	7	12	12	10	1	1	1	1	1	1	0	4	3	2	3	2	5	0	1	2	5	2	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:52451228G>A	uc001rzs.3	+	6	1773	c.1454G>A	c.(1453-1455)aGt>aAt	p.S485N	NR4A1_uc010sno.2_Missense_Mutation_p.S498N|NR4A1_uc001rzt.3_Missense_Mutation_p.S485N|NR4A1_uc009zmc.3_Missense_Mutation_p.V99I	NM_002135	NP_775180	P22736	NR4A1_HUMAN	Homo sapiens nuclear receptor subfamily 4, group A, member 1 (NR4A1), transcript variant 1, mRNA.	485					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		TGGATTGACAGTATCCTGGCC	0.612													A	52451228	G	A	52451228	3	1	237	1	0	0	0	0	1	0	0	0	10708	1029	36	2	1472	2	NR4A1	12	52451228	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		52451228	81400667	74	16451											
AGAP2	116986	broad.mit.edu	37	chr12	58124715	58124715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtccatctccttgcCgtgggtactgtggatgtaat	8	12	11	10	1	1	0	0	0	1	0	3	1	2	1	3	2	3	3	3	2	3	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:58124715C>A	uc001spq.3	-	10	2167	c.2167G>T	c.(2167-2169)Ggc>Tgc	p.G723C	AGAP2_uc001spp.3_Missense_Mutation_p.G723C|AGAP2_uc001spr.3_Missense_Mutation_p.G387C	NM_001122772	NP_001116244	Q99490	AGAP2_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 2 (AGAP2), transcript variant 1, mRNA.	723	PH.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATCTCCTTGCCGTGGGTACTG	0.582													A	58124715	C	A	58124715	3	1	237	1	0	0	0	0	1	0	0	0	368	652	23	4	1447	4	AGAP2	12	58124715	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	5673487	58124715	75727180	75	16452											
TDG	6996	broad.mit.edu	37	chr12	104377129	104377129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaggttaagaacttggaaTttgggcttcagccccataag	13	11	10	7	0	1	1	1	0	0	1	1	2	1	2	2	3	2	2	2	3	6	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:104377129T>A	uc001tkg.3	+	6	977	c.754T>A	c.(754-756)Ttt>Att	p.F252I	TDG_uc009zuk.3_Missense_Mutation_p.F248I|TDG_uc010swi.2_Missense_Mutation_p.F109I|TDG_uc010swj.2_Missense_Mutation_p.F40I	NM_003211	NP_003202	Q13569	TDG_HUMAN	Homo sapiens thymine-DNA glycosylase (TDG), mRNA.	252					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAACTTGGAATTTGGGCTTCA	0.299								Base excision repair (BER), DNA glycosylases					A	104377129	T	A	104377129	3	1	237	1	0	0	0	0	1	0	0	0	15825	1493	52	5	780	5	TDG	12	104377129	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	46252414	104377129	29474766	76	16453											
BTBD11	121551	broad.mit.edu	37	chr12	108010913	108010913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctcagtggagcatggCgaggagaactactcggaaac	13	5	15	8	2	1	1	1	0	0	1	2	6	1	3	0	5	4	2	0	5	4	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:108010913C>T	uc001tmk.1	+	7	2570	c.2049C>T	c.(2047-2049)ggC>ggT	p.G683G	BTBD11_uc009zut.1_Silent_p.G683G|BTBD11_uc001tmj.3_Silent_p.G683G|BTBD11_uc001tml.1_Silent_p.G220G	NM_001018072	NP_001018082	A6QL63	BTBDB_HUMAN	Homo sapiens BTB (POZ) domain containing 11 (BTBD11), transcript variant a, mRNA.	683						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGGAGCATGGCGAGGAGAACT	0.612													T	108010913	C	T	108010913	2	4	237	1	0	0	0	0	0	0	0	1	1548	755	27	1		1	BTBD11	12	108010913	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	3633784	108010913	25840982	77	16454											
KSR2	283455	broad.mit.edu	37	chr12	117993076	117993076	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacacggaacggactcTgtccggactaaccttgctgg	9	9	11	12	3	2	0	1	0	1	0	3	3	3	3	2	4	3	1	2	4	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:117993076T>C	uc001two.2	-	8	1384	c.1329A>G	c.(1327-1329)acA>acG	p.T443T		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	472					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GAACGGACTCTGTCCGGACTA	0.478													C	117993076	T	C	117993076	2	2	237	1	0	0	0	0	0	0	0	1	8641	1567	55	3		3	KSR2	12	117993076	Silent	SNP	T	TCGA-32-4210-01A-01D-1353-08	9982163	117993076	15858819	78	16455											
DIABLO	56616	broad.mit.edu	37	chr12	122702873	122702873	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgagagagaaaggtagaGgtgctatctgttaccaaaga	14	9	13	5	0	2	4	0	1	2	4	2	6	2	4	1	2	2	3	1	2	5	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:122702873G>T	uc010tab.2	-	3	1060	c.255C>A	c.(253-255)acC>acA	p.T85T	DIABLO_uc010taa.2_Silent_p.T32T|DIABLO_uc010tac.2_Intron|DIABLO_uc010tad.2_Intron|VPS33A_uc001ucc.3_Non-coding_Transcript	NM_019887	NP_063940	Q9NR28	DBLOH_HUMAN	Homo sapiens diablo, IAP-binding mitochondrial protein (DIABLO), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	85				Missing (in Ref. 2; BAB71568).	activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GAAAGGTAGAGGTGCTATCTG	0.403													T	122702873	G	T	122702873	2	4	237	1	0	0	0	0	0	0	0	1	4556	987	35	4		4	DIABLO	12	122702873	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	4709797	122702873	11149022	79	16456											
GPR133	283383	broad.mit.edu	37	chr12	131593382	131593382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcaaggtctttgggtcGgaggacagcaagcaccgtta	10	9	14	8	2	2	1	1	1	1	0	3	3	2	3	1	4	2	3	1	4	3	2	rs60880996	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr12:131593382G>A	uc010tbm.2	+	18	2656	c.2097G>A	c.(2095-2097)tcG>tcA	p.S699S	GPR133_uc001uit.4_Silent_p.S667S|GPR133_uc009zyo.3_Intron|GPR133_uc001uiv.1_Silent_p.S186S|GPR133_uc009zyp.3_Non-coding_Transcript	NM_198827	NP_942122	Q6QNK2	GP133_HUMAN	Homo sapiens G protein-coupled receptor 133 (GPR133), mRNA.	667					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S667S(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TCTTTGGGTCGGAGGACAGCA	0.607													A	131593382	G	A	131593382	2	1	237	1	0	0	0	0	0	0	0	1	6697	1103	39	1		1	GPR133	12	131593382	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	8890509	131593382	2258513	80	16457											
FSCB	84075	broad.mit.edu	37	chr14	44975414	44975414	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatttttctgttgatggAggctctatttcagcagaagc	9	14	12	6	0	3	2	1	1	2	1	3	4	3	4	0	3	2	3	0	3	3	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:44975414A>G	uc001wvn.3	-	0	1086	c.777T>C	c.(775-777)ccT>ccC	p.P259P		NM_032135	NP_115511	Q5H9T9	FSCB_HUMAN	Homo sapiens fibrous sheath CABYR binding protein (FSCB), mRNA.	259						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CTGTTGATGGAGGCTCTATTT	0.458													G	44975414	A	G	44975414	2	3	237	1	0	0	0	0	0	0	0	1	6118	291	11	3		3	FSCB	14	44975414	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08		44975414	62374126	81	16458											
SYT16	83851	broad.mit.edu	37	chr14	62541877	62541877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatggagccagccaacggcGttattctgagaatctctcct	9	10	11	11	2	2	1	0	1	2	1	4	4	3	3	3	3	3	1	3	3	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:62541877G>A	uc001xfu.1	+	2	958	c.761G>A	c.(760-762)cGt>cAt	p.R254H	SYT16_uc010tsd.1_Missense_Mutation_p.R254H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	254										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		AGCCAACGGCGTTATTCTGAG	0.428													A	62541877	G	A	62541877	3	1	237	1	0	0	0	0	1	0	0	0	15569	1145	40	1	771	1	SYT16	14	62541877	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	17566463	62541877	44807663	82	16459											
MAP3K9	4293	broad.mit.edu	37	chr14	71216774	71216774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggcacctcaccagtcagCaactcccaaagtagcacccc	13	4	7	17	0	2	0	2	0	0	0	3	0	3	0	5	1	3	4	5	1	4	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr14:71216774C>A	uc001xmm.3	-	3	1026	c.1026G>T	c.(1024-1026)ttG>ttT	p.L342F	MAP3K9_uc010ttk.2_Missense_Mutation_p.L79F|MAP3K9_uc001xmk.3_Missense_Mutation_p.L36F|MAP3K9_uc001xml.3_Missense_Mutation_p.L342F	NM_033141	NP_149132	P80192	M3K9_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 9 (MAP3K9), mRNA.	342	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCAGTCAGCAACTCCCAAA	0.488													A	71216774	C	A	71216774	3	1	237	1	0	0	0	0	1	0	0	0	9332	709	25	4	2370	4	MAP3K9	14	71216774	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	8674897	71216774	36132766	83	16460											
CACNA1H	8912	broad.mit.edu	37	chr16	1270781	1270781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagaccctttcttggaCggtagccacagtgtgacccc	8	9	12	12	1	1	2	0	1	1	1	1	4	1	3	4	3	1	1	4	3	1	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:1270781C>T	uc002cks.3	+	34	7097	c.6849C>T	c.(6847-6849)gaC>gaT	p.D2283D	CACNA1H_uc002ckt.3_Silent_p.D2277D|CACNA1H_uc002cku.3_Silent_p.D978D|CACNA1H_uc010brj.3_Silent_p.D994D|CACNA1H_uc002ckv.3_Silent_p.D972D	NM_021098	NP_066921	O95180	CAC1H_HUMAN	Homo sapiens calcium channel, voltage-dependent, T type, alpha 1H subunit (CACNA1H), transcript variant 1, mRNA.	2283					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTTTCTTGGACGGTAGCCACA	0.652													T	1270781	C	T	1270781	2	4	237	1	0	0	0	0	0	0	0	1	2571	535	19	1		1	CACNA1H	16	1270781	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		1270781	89083972	84	16461											
ZNF263	10127	broad.mit.edu	37	chr16	3339529	3339529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagacctcatgaccggtcGcaaggggattgggcgcctcc	8	6	15	12	3	1	2	1	1	0	1	3	4	2	4	4	5	0	1	4	5	2	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:3339529G>A	uc002cuq.3	+	5	1355	c.1023G>A	c.(1021-1023)tcG>tcA	p.S341S	ZNF263_uc010uww.2_5'UTR|ZNF263_uc002cur.2_5'UTR	NM_005741	NP_005732	O14978	ZN263_HUMAN	Homo sapiens zinc finger protein 263 (ZNF263), mRNA.	341					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						ATGACCGGTCGCAAGGGGATT	0.632													A	3339529	G	A	3339529	2	1	237	1	0	0	0	0	0	0	0	1	17904	1074	38	1		1	ZNF263	16	3339529	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	2068748	3339529	87015224	85	16462											
IQCK	124152	broad.mit.edu	37	chr16	19729740	19729740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgtgtctctcgcgtcccgcGagctgcctgtctcgtcgtgg	1	11	13	16	7	2	0	0	0	2	0	7	1	3	0	3	1	2	1	3	1	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:19729740G>C	uc002dgr.3	+	1	811	c.112G>C	c.(112-114)Gag>Cag	p.E38Q	IQCK_uc002dgs.3_Non-coding_Transcript|IQCK_uc010vat.2_Missense_Mutation_p.E38Q|IQCK_uc010bwc.3_Non-coding_Transcript|IQCK_uc010vau.2_5'UTR|C16orf88_uc002dgq.3_5'Flank	NM_153208	NP_694940	Q8N0W5	IQCK_HUMAN	Homo sapiens IQ motif containing K (IQCK), mRNA.	38										kidney(1)|large_intestine(2)|lung(2)|skin(1)	6						CGCGTCCCGCGAGCTGCCTGT	0.652													C	19729740	G	C	19729740	3	2	237	1	0	0	0	0	1	0	0	0	7871	1059	37	4	114	4	IQCK	16	19729740	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	16390211	19729740	70625013	86	16463											
MVP	9961	broad.mit.edu	37	chr16	29855978	29855978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactcagcccgcatcattcGcactgctgtctttggctttg	6	13	9	13	2	3	0	2	0	1	0	4	1	3	0	1	1	3	4	1	1	1	3	rs148167046		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:29855978G>A	uc002dui.3	+	10	1951	c.1799G>A	c.(1798-1800)cGc>cAc	p.R600H	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.R600H|MVP_uc010vea.2_Missense_Mutation_p.R194H	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	600					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding	p.R600L(2)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CGCATCATTCGCACTGCTGTC	0.617													A	29855978	G	A	29855978	3	1	237	1	0	0	0	0	1	0	0	0	10072	1087	38	1	1837	1	MVP	16	29855978	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	10126238	29855978	60498775	87	16464											
PRSS36	146547	broad.mit.edu	37	chr16	31151818	31151818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaggggtctcacctcggTcctggggttctttccagccc	4	10	11	16	1	2	0	1	0	2	0	6	0	4	0	5	5	1	1	5	5	0	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:31151818T>C	uc002ebd.3	-	12	2221	c.2162A>G	c.(2161-2163)gAc>gGc	p.D721G	PRSS36_uc010vff.2_Missense_Mutation_p.D496G|PRSS36_uc010vfg.2_Missense_Mutation_p.D716G|PRSS36_uc010vfh.2_Intron	NM_173502	NP_775773	Q5K4E3	POLS2_HUMAN	Homo sapiens protease, serine, 36 (PRSS36), mRNA.	721	Peptidase S1 3.				proteolysis	cytoplasm|proteinaceous extracellular matrix	serine-type endopeptidase activity			kidney(2)|large_intestine(4)|lung(8)|ovary(3)	17						CTCACCTCGGTCCTGGGGTTC	0.667													C	31151818	T	C	31151818	3	2	237	1	0	0	0	0	1	0	0	0	12710	1667	58	3	417	3	PRSS36	16	31151818	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	1295840	31151818	59202935	88	16465											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53686572	53686572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacctcaagggtgatagtaTtcttctgaatatattgcaaa	13	13	9	6	0	3	2	1	2	2	0	3	3	3	3	1	2	1	2	1	2	7	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:53686572T>C	uc002ehp.3	-	14	2091	c.2027A>G	c.(2026-2028)aAt>aGt	p.N676S	RPGRIP1L_uc002eho.4_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgy.2_Missense_Mutation_p.N676S|RPGRIP1L_uc010cbx.3_Missense_Mutation_p.N676S|RPGRIP1L_uc010vgz.1_Missense_Mutation_p.N676S	NM_015272	NP_056087	Q68CZ1	FTM_HUMAN	Homo sapiens RPGRIP1-like (RPGRIP1L), transcript variant 1, mRNA.	676	C2 1.				negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GGTGATAGTATTCTTCTGAAT	0.378													C	53686572	T	C	53686572	3	2	237	1	0	0	0	0	1	0	0	0	13641	1493	52	3	1972	3	RPGRIP1L	16	53686572	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	22534754	53686572	36668181	89	16466											
NUDT21	11051	broad.mit.edu	37	chr16	56473612	56473612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccagttaccaatgcaaTcgtcaatgacccagtcttgc	11	10	6	14	1	2	1	1	1	1	0	4	1	3	1	4	0	3	2	4	0	4	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:56473612T>C	uc002eja.3	-	3	575	c.428A>G	c.(427-429)gAt>gGt	p.D143G		NM_007006	NP_008937	O43809	CPSF5_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 21 (NUDT21), mRNA.	143	Necessary for RNA-binding.|Necessary for interactions with PAPOLA and PABPN1.|Nudix hydrolase.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	centrosome|mRNA cleavage factor complex|paraspeckles	AU-rich element binding|histone deacetylase binding|hydrolase activity|mRNA binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)	7						ACCAATGCAATCGTCAATGAC	0.408													C	56473612	T	C	56473612	3	2	237	1	0	0	0	0	1	0	0	0	10814	1435	50	3	271	3	NUDT21	16	56473612	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	2787040	56473612	33881141	90	16467											
TMEM208	29100	broad.mit.edu	37	chr16	67261781	67261781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggaagaagcagatatttGaagagaacagagagactctg	17	6	14	4	0	1	6	0	1	1	5	1	10	1	7	0	1	2	1	0	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67261781G>C	uc002esi.2	+	1	155	c.49G>C	c.(49-51)Gaa>Caa	p.E17Q	LRRC29_uc002ese.3_5'Flank|LRRC29_uc002esf.3_5'Flank|LRRC29_uc002esg.3_5'Flank|LRRC29_uc010vjg.2_5'Flank|TMEM208_uc002esj.2_Non-coding_Transcript	NM_014187	NP_054906	Q9BTX3	TM208_HUMAN	Homo sapiens transmembrane protein 208 (TMEM208), mRNA.	17						integral to membrane				breast(1)|kidney(2)|lung(1)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GCAGATATTTGAAGAGAACAG	0.532													C	67261781	G	C	67261781	3	2	237	1	0	0	0	0	1	0	0	0	16233	1291	45	4	55	4	TMEM208	16	67261781	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	10788169	67261781	23092972	91	16468											
EDC4	23644	broad.mit.edu	37	chr16	67914753	67914753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagctcgggcttgatggAggccctggggatggagatcg	6	7	17	11	2	0	2	0	1	0	1	2	5	0	4	3	6	1	2	3	6	0	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:67914753A>G	uc002eur.3	+	17	2630	c.2391A>G	c.(2389-2391)ggA>ggG	p.G797G	EDC4_uc010cer.3_Silent_p.G416G|EDC4_uc002eus.3_Silent_p.G527G|EDC4_uc002eut.1_5'Flank	NM_014329	NP_055144	Q6P2E9	EDC4_HUMAN	Homo sapiens enhancer of mRNA decapping 4 (EDC4), mRNA.	797					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GGCTTGATGGAGGCCCTGGGG	0.672													G	67914753	A	G	67914753	2	3	237	1	0	0	0	0	0	0	0	1	4947	291	11	3		3	EDC4	16	67914753	Silent	SNP	A	TCGA-32-4210-01A-01D-1353-08	652972	67914753	22440000	92	16469											
PLCG2	5336	broad.mit.edu	37	chr16	81942161	81942161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttcctggttcgggagagCgagaccttccccaatgacta	9	9	10	13	2	0	3	0	1	0	2	3	5	2	3	5	2	1	1	5	2	2	4	rs11548654		TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr16:81942161C>T	uc002fgt.3	+	16	1876	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	PLCG2_uc010chg.1_Silent_p.S566S	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	566	SH2 1.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TTCGGGAGAGCGAGACCTTCC	0.592													T	81942161	C	T	81942161	2	4	237	1	0	0	0	0	0	0	0	1	12113	767	27	1		1	PLCG2	16	81942161	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	14027408	81942161	8412592	93	16470											
DERL2	51009	broad.mit.edu	37	chr17	5383436	5383436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaaatacatcttccaaGaaaaaatatatgtgtccaac	17	11	6	7	0	1	1	0	0	1	1	3	2	3	2	2	1	2	0	2	1	9	5			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:5383436G>T	uc002gcc.1	-	5	565	c.552C>A	c.(550-552)ttC>ttA	p.F184L		NM_016041	NP_057125	Q9GZP9	DERL2_HUMAN	Homo sapiens Der1-like domain family, member 2 (DERL2), mRNA.	184					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of cell growth|positive regulation of cell proliferation|retrograde protein transport, ER to cytosol	integral to endoplasmic reticulum membrane	protein binding			large_intestine(3)	3						CATCTTCCAAGAAAAAATATA	0.358													T	5383436	G	T	5383436	3	4	237	1	0	0	0	0	1	0	0	0	4486	933	33	4	175	4	DERL2	17	5383436	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		5383436	75811774	94	16471											
TP53	7157	broad.mit.edu	37	chr17	7577544	7577544	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatgggcctccggttcAtgccgcccatgcaggaactg	7	8	14	12	2	1	1	1	1	0	0	2	3	2	3	4	4	3	2	4	4	1	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7577544A>C	uc002gim.2	-	6	931	c.737T>G	c.(736-738)aTg>aGg	p.M246R	TP53_uc002gig.1_Missense_Mutation_p.M246R|TP53_uc002gih.3_Missense_Mutation_p.M246R|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.M114R|TP53_uc010cnf.1_Missense_Mutation_p.M114R|TP53_uc002gii.1_Missense_Mutation_p.M114R|TP53_uc010cni.1_Missense_Mutation_p.M246R|TP53_uc010cnh.1_Missense_Mutation_p.M246R|TP53_uc002gij.2_Missense_Mutation_p.M246R|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.M153R|TP53_uc002gio.2_Missense_Mutation_p.M114R|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; 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.G245S(296)|p.G245D(99)|p.G245V(58)|p.G245C(51)|p.M246V(31)|p.M246I(24)|p.M246R(20)|p.M246T(17)|p.M246K(15)|p.G245R(10)|p.G245A(8)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(4)|p.G245G(3)|p.G245fs*2(3)|p.M246L(3)|p.G245N(2)|p.C238_M246delCNSSCMGGM(2)|p.M246fs*1(2)|p.G245fs*14(2)|p.G245fs*16(2)|p.G244_M246del(1)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*22(1)|p.M153T(1)|p.G245del(1)|p.G244_M246>V(1)|p.C242fs*98(1)|p.S241_G245delSCMGG(1)|p.G245fs*17(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)		CCTCCGGTTCATGCCGCCCAT	0.572		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)			C	7577544	A	C	7577544	3	2	237	1	0	0	0	0	1	0	0	0	16482	217	8	5	553	5	TP53	17	7577544	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	2194108	7577544	73617666	95	16472											
DNAH2	146754	broad.mit.edu	37	chr17	7640511	7640511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagctgatcagtctcatcCgcatcatctgggtcaactct	9	12	7	13	1	6	1	4	1	3	0	8	1	7	1	1	1	2	2	1	1	2	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7640511C>T	uc002giu.1	+	6	1119	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	DNAH2_uc002git.3_Missense_Mutation_p.R369C|DNAH2_uc010vuk.2_Missense_Mutation_p.R369C	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	369	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CAGTCTCATCCGCATCATCTG	0.517													T	7640511	C	T	7640511	3	4	237	1	0	0	0	0	1	0	0	0	4641	652	23	1	1131	1	DNAH2	17	7640511	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	62967	7640511	73554699	96	16473											
ALOX15B	247	broad.mit.edu	37	chr17	7943287	7943287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaggagcttcaggcccgGcaggagatgtaccagtgagg	10	5	17	9	1	1	2	1	1	0	1	1	5	1	4	2	6	2	3	2	6	1	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:7943287G>A	uc002gju.3	+	2	551	c.435G>A	c.(433-435)cgG>cgA	p.R145R	ALOX15B_uc002gjv.3_Silent_p.R145R|ALOX15B_uc002gjw.3_Silent_p.R145R|ALOX15B_uc010vun.2_Silent_p.R145R|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	145	Lipoxygenase.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						TTCAGGCCCGGCAGGAGATGT	0.607													A	7943287	G	A	7943287	2	1	237	1	0	0	0	0	0	0	0	1	539	1190	42	2		2	ALOX15B	17	7943287	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	302776	7943287	73251923	97	16474											
GLP2R	9340	broad.mit.edu	37	chr17	9737155	9737155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccttgaggaaacgactcGgaagtgggctcagtacaaac	12	7	11	11	2	1	1	1	1	0	0	3	4	2	3	2	3	3	2	2	3	4	2	rs147858947	byFrequency	TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:9737155G>A	uc002gmd.1	+	1	221	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	GLP2R_uc010cog.1_Non-coding_Transcript	NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	74					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GAAACGACTCGGAAGTGGGCT	0.483													A	9737155	G	A	9737155	3	1	237	1	0	0	0	0	1	0	0	0	6509	1116	39	1	227	1	GLP2R	17	9737155	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	1793868	9737155	71458055	98	16475											
MYH13	8735	broad.mit.edu	37	chr17	10243484	10243484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccaggagtcttggtctcaTtgggaatcagacatcgtaca	11	10	10	10	1	3	1	2	0	2	1	5	3	3	3	1	3	1	1	1	3	2	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr17:10243484T>C	uc002gmk.1	-	17	2129	c.2039A>G	c.(2038-2040)aAt>aGt	p.N680S		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	680	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTGGTCTCATTGGGAATCAG	0.423													C	10243484	T	C	10243484	3	2	237	1	0	0	0	0	1	0	0	0	10108	1493	52	3	3873	3	MYH13	17	10243484	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	506329	10243484	70951726	99	16476											
CETN1	1068	broad.mit.edu	37	chr18	580606	580606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttcgaacccaggaaGgaagagatgaagaaaatgat	16	6	13	6	1	0	4	0	2	0	2	1	8	0	6	1	3	1	1	1	3	6	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:580606G>A	uc002kko.1	+	0	238	c.198G>A	c.(196-198)aaG>aaA	p.K66K		NM_004066	NP_004057	Q12798	CETN1_HUMAN	Homo sapiens centrin, EF-hand protein, 1 (CETN1), mRNA.	66	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						AACCCAGGAAGGAAGAGATGA	0.557													A	580606	G	A	580606	2	1	237	1	0	0	0	0	0	0	0	1	3304	991	35	2		2	CETN1	18	580606	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08		580606	77496642	100	16477											
MYOM1	8736	broad.mit.edu	37	chr18	3126851	3126851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaagaaccattgagtcacGaaaactttcaagacaggtga	16	8	8	9	1	2	4	2	2	0	2	3	5	3	4	2	1	2	0	2	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:3126851G>A	uc002klp.3	-	18	3173	c.2839C>T	c.(2839-2841)Cgt>Tgt	p.R947C	MYOM1_uc002klq.3_Missense_Mutation_p.R851C	NM_003803	NP_003794	P52179	MYOM1_HUMAN	Homo sapiens myomesin 1, 185kDa (MYOM1), transcript variant 1, mRNA.	947	Fibronectin type-III 4.					striated muscle myosin thick filament	structural constituent of muscle	p.R947C(2)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						ATTGAGTCACGAAAACTTTCA	0.423													A	3126851	G	A	3126851	3	1	237	1	0	0	0	0	1	0	0	0	10167	1058	37	1	2298	1	MYOM1	18	3126851	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	2546245	3126851	74950397	101	16478											
DSC2	1824	broad.mit.edu	37	chr18	28659892	28659892	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatccaggcttctgaaaacTttgattgatcctgtattttc	9	17	6	9	0	1	3	0	3	1	0	4	3	3	3	2	1	1	2	2	1	4	7			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr18:28659892T>A	uc002kwl.4	-	10	2038	c.1584A>T	c.(1582-1584)aaA>aaT	p.K528N	DSC2_uc002kwk.4_Missense_Mutation_p.K528N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	528	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TTCTGAAAACTTTGATTGATC	0.343													A	28659892	T	A	28659892	3	1	237	1	0	0	0	0	1	0	0	0	4805	1606	56	5	1185	5	DSC2	18	28659892	Missense_Mutation	SNP	T	TCGA-32-4210-01A-01D-1353-08	25533041	28659892	49417356	102	16479											
TNFSF9	8744	broad.mit.edu	37	chr19	6531065	6531065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggaatacgcctctgaCgcttcactggaccccgaagc	9	8	10	14	3	3	1	2	1	1	0	3	4	3	3	3	2	2	1	3	2	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:6531065C>T	uc002mfh.2	+	0	56	c.18C>T	c.(16-18)gaC>gaT	p.D6D		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	6					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						ACGCCTCTGACGCTTCACTGG	0.692													T	6531065	C	T	6531065	2	4	237	1	0	0	0	0	0	0	0	1	16412	535	19	1		1	TNFSF9	19	6531065	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08		6531065	52597918	103	16480											
FBN3	84467	broad.mit.edu	37	chr19	8200953	8200953	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaaaggccaccactgaCaatgcactcgtccacatctg	12	7	8	14	1	1	2	0	2	1	0	3	2	2	2	3	1	1	1	3	1	2	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:8200953C>G	uc002mjf.3	-	11	1500	c.1483G>C	c.(1483-1485)Gtc>Ctc	p.V495L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	495	EGF-like 5; 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						CCACCACTGACAATGCACTCG	0.612													G	8200953	C	G	8200953	3	3	237	1	0	0	0	0	1	0	0	0	5753	478	17	4	7154	4	FBN3	19	8200953	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	1669888	8200953	50928030	104	16481											
WDR83	84292	broad.mit.edu	37	chr19	12779320	12779320	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagagtcacttgttctgtAgggcaagtctcacatgaagc	11	11	10	9	0	4	2	3	1	2	1	5	2	4	2	0	1	1	3	0	1	4	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:12779320A>G	uc002mue.4	+	2	190	c.-155_splice	c.e2-2		MAN2B1_uc010dyv.1_5'Flank|MAN2B1_uc002mub.2_5'Flank|WDR83_uc002muc.3_Splice_Site|WDR83OS_uc002mud.2_Intron|WDR83_uc010dyw.3_5'Flank	NM_001099737	NP_115708	Q9BRX9	WDR83_HUMAN	Homo sapiens WD repeat domain 83 (WDR83), transcript variant 1, mRNA.						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|cytoplasm				breast(2)|large_intestine(1)|lung(1)	4						CTTGTTCTGTAGGGCAAGTCT	0.557													G	12779320	A	G	12779320	5	3	237	1	0	0	0	0	0	0	1	0	17434	434	15	3		3	WDR83	19	12779320	Splice_Site	SNP	A	TCGA-32-4210-01A-01D-1353-08	4578367	12779320	46349663	105	16482											
MYO9B	4650	broad.mit.edu	37	chr19	17308666	17308666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccctggccaaggctcAggtaacaacaacacggcaaa	13	4	9	15	2	1	0	1	0	0	0	2	0	2	0	3	4	3	3	3	4	5	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:17308666A>G	uc010eak.3	+	23	4265	c.4113_splice	c.e23+1	p.Q1371_splice	MYO9B_uc002nfi.3_Splice_Site_p.Q1371_splice|MYO9B_uc002nfj.1_Splice_Site_p.Q1371_splice|MYO9B_uc002nfl.1_5'Flank	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1371	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GCCAAGGCTCAGGTAACAAca	0.557													G	17308666	A	G	17308666	3	3	237	1	0	0	0	0	1	0	0	0	10161	202	7	3	4198	3	MYO9B	19	17308666	Missense_Mutation	SNP	A	TCGA-32-4210-01A-01D-1353-08	4529346	17308666	41820317	106	16483											
ZFP30	22835	broad.mit.edu	37	chr19	38127033	38127033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgagttttctgtaagtagGcattttttcagaggtggttt	7	19	12	3	0	2	2	1	1	1	1	2	2	2	2	0	3	0	5	0	3	2	8			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:38127033G>A	uc002ogv.1	-	5	925	c.409C>T	c.(409-411)Cct>Tct	p.P137S	ZFP30_uc002ogw.1_Missense_Mutation_p.P137S|ZFP30_uc002ogx.1_Missense_Mutation_p.P137S|ZFP30_uc010xtt.1_Missense_Mutation_p.P136S	NM_014898	NP_055713	Q9Y2G7	ZFP30_HUMAN	Homo sapiens zinc finger protein 30 homolog (mouse) (ZFP30), mRNA.	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CTGTAAGTAGGCATTTTTTCA	0.408													A	38127033	G	A	38127033	3	1	237	1	0	0	0	0	1	0	0	0	17745	1203	42	2	1154	2	ZFP30	19	38127033	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	20818367	38127033	21001950	107	16484											
CEACAM4	1089	broad.mit.edu	37	chr19	42133314	42133314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccctccacggggagcGgctgagggggggcccatggt	4	6	19	12	2	0	1	0	1	0	0	1	2	1	2	3	7	2	1	3	7	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:42133314G>A	uc010xwd.1	-	0	129	c.18C>T	c.(16-18)gcC>gcT	p.A6A	CEACAM4_uc002orh.1_Silent_p.A6A	NM_001817	NP_001808	O75871	CEAM4_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 4 (CEACAM4), mRNA.	6						integral to plasma membrane|membrane fraction		p.S5fs*15(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CACGGGGAGCGGCTGAGGGGG	0.652													A	42133314	G	A	42133314	2	1	237	1	0	0	0	0	0	0	0	1	3224	1103	39	1		1	CEACAM4	19	42133314	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	4006281	42133314	16995669	108	16485											
CLPTM1	1209	broad.mit.edu	37	chr19	45476426	45476426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccccggaggagctccaCgcgtcgccagccgcaacctg	6	3	14	18	6	0	0	0	0	0	0	2	2	1	2	6	3	3	2	6	3	1	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:45476426C>T	uc002pai.3	+	2	322	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	CLPTM1_uc010ejv.1_5'UTR|CLPTM1_uc010xxf.2_5'UTR|CLPTM1_uc010xxg.2_Missense_Mutation_p.R76C	NM_001294	NP_001285	O96005	CLPT1_HUMAN	Homo sapiens cleft lip and palate associated transmembrane protein 1 (CLPTM1), transcript variant 2, mRNA.	90					cell differentiation|multicellular organismal development|regulation of T cell differentiation in thymus	external side of plasma membrane|integral to plasma membrane		p.R90C(3)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00354)|Epithelial(262;0.187)		AGGAGCTCCACGCGTCGCCAG	0.627													T	45476426	C	T	45476426	3	4	237	1	0	0	0	0	1	0	0	0	3585	536	19	1	278	1	CLPTM1	19	45476426	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	3343112	45476426	13652557	109	16486											
LILRA5	353514	broad.mit.edu	37	chr19	54823150	54823150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtcaccaccagctcCagggggtcgctgggctctga	6	8	12	15	1	3	1	2	1	1	0	5	1	4	1	4	3	1	3	4	3	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:54823150C>T	uc002qfe.3	-	3	513	c.393G>A	c.(391-393)ctG>ctA	p.L131L	LILRA5_uc002qff.3_Silent_p.L119L|LILRA5_uc010yev.2_Silent_p.L131L|LILRA5_uc010yew.2_Silent_p.L119L|LILRA5_uc002qfg.1_Silent_p.L131L|LILRA5_uc002qfh.1_Silent_p.L119L	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	131	Ig-like C2-type 1.				innate immune response	extracellular region|integral to membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACCAGCTCCAGGGGGTCGC	0.622													T	54823150	C	T	54823150	2	4	237	1	0	0	0	0	0	0	0	1	8848	581	21	2		2	LILRA5	19	54823150	Silent	SNP	C	TCGA-32-4210-01A-01D-1353-08	9346724	54823150	4305833	110	16487											
NLRP13	126204	broad.mit.edu	37	chr19	56422072	56422072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaatgctgttccatgcGtgcatcctggaatcaaactt	11	11	9	10	1	1	0	1	0	0	0	3	2	3	1	2	1	5	4	2	1	3	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr19:56422072G>A	uc010ygg.2	-	5	2164	c.2139C>T	c.(2137-2139)caC>caT	p.H713H		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	713							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGTTCCATGCGTGCATCCTGG	0.463													A	56422072	G	A	56422072	2	1	237	1	0	0	0	0	0	0	0	1	10551	1136	40	1		1	NLRP13	19	56422072	Silent	SNP	G	TCGA-32-4210-01A-01D-1353-08	1598922	56422072	2706911	111	16488											
CPXM1	56265	broad.mit.edu	37	chr20	2776322	2776322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgtggcagggtcggCggctggtgtcctgcatggcc	2	9	18	12	2	0	0	0	0	0	0	2	0	1	0	3	7	1	4	3	7	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:2776322C>T	uc002wgu.3	-	10	1717	c.1643G>A	c.(1642-1644)cGc>cAc	p.R548H	CPXM1_uc010gas.3_Intron	NM_019609	NP_062555	Q96SM3	CPXM1_HUMAN	Homo sapiens carboxypeptidase X (M14 family), member 1 (CPXM1), transcript variant 1, mRNA.	548					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						GCAGGGTCGGCGGCTGGTGTC	0.622													T	2776322	C	T	2776322	3	4	237	1	0	0	0	0	1	0	0	0	3868	768	27	1	577	1	CPXM1	20	2776322	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		2776322	60249198	112	16489											
ProSAPiP1	9762	broad.mit.edu	37	chr20	3146165	3146165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttagtttcctctatcCggggcaggaagtcggcctgc	6	10	11	14	2	1	0	0	0	1	0	4	1	3	1	4	4	1	2	4	4	3	3			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:3146165C>T	uc002wia.1	-	1	2699	c.1301G>A	c.(1300-1302)cGg>cAg	p.R434Q	ProSAPiP1_uc002wib.1_Missense_Mutation_p.R388Q	NM_014731	NP_055546	O60299	PRIP1_HUMAN	Homo sapiens ProSAPiP1 protein (ProSAPiP1), mRNA.	434						cell junction|cytoplasm|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTCCTCTATCCGGGGCAGGAA	0.662													T	3146165	C	T	3146165	3	4	237	1	0	0	0	0	1	0	0	0	12958	652	23	1	728	1	ProSAPiP1	20	3146165	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08	369843	3146165	59879355	113	16490											
CRLS1	54675	broad.mit.edu	37	chr20	5996124	5996124	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttagcttgacctatgcaGatcttattccaggtaagaac	12	13	8	8	0	1	3	0	1	1	2	2	3	2	3	2	1	3	4	2	1	5	6			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:5996124G>T	uc002wmn.4	+	2	716	c.562G>T	c.(562-564)Gat>Tat	p.D188Y	CRLS1_uc010gbq.3_Non-coding_Transcript|CRLS1_uc010gbr.3_Missense_Mutation_p.D89Y|CRLS1_uc010gbs.1_Missense_Mutation_p.D77Y	NM_019095	NP_061968	Q9UJA2	CRLS1_HUMAN	Homo sapiens cardiolipin synthase 1 (CRLS1), transcript variant 1, mRNA.	188					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphotransferase activity, for other substituted phosphate groups			lung(3)|ovary(1)	4						GACCTATGCAGATCTTATTCC	0.383													T	5996124	G	T	5996124	3	4	237	1	0	0	0	0	1	0	0	0	3920	942	33	4	585	4	CRLS1	20	5996124	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	2849959	5996124	57029396	114	16491											
SALL4	57167	broad.mit.edu	37	chr20	50401201	50401201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctgagttattgttcGccccgtgtgtcatgtagtga	5	13	15	8	3	1	2	1	2	0	0	2	2	1	2	2	2	0	4	2	2	2	4			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr20:50401201G>A	uc002xwh.4	-	3	2866	c.2765C>T	c.(2764-2766)gCg>gTg	p.A922V	SALL4_uc010gii.3_Missense_Mutation_p.A485V|SALL4_uc002xwi.4_Missense_Mutation_p.A145V	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	922					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A922V(2)|p.G921W(1)		endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTATTGTTCGCCCCGTGTGT	0.468													A	50401201	G	A	50401201	3	1	237	1	0	0	0	0	1	0	0	0	13904	1087	38	1	400	1	SALL4	20	50401201	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	44405077	50401201	12624319	115	16492											
LZTR1	8216	broad.mit.edu	37	chr22	21345975	21345975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaccacccccgcagcggCgctacgggcataccatggtg	7	4	11	19	4	0	0	0	0	0	0	0	0	0	0	6	3	3	3	6	3	2	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chr22:21345975C>A	uc002zto.3	+	8	953	c.850C>A	c.(850-852)Cgc>Agc	p.R284S	LZTR1_uc002ztn.3_Missense_Mutation_p.R243S|LZTR1_uc011ahy.2_Missense_Mutation_p.R265S|LZTR1_uc010gsr.1_Missense_Mutation_p.R155S	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	284					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCCGCAGCGGCGCTACGGGCA	0.632													A	21345975	C	A	21345975	3	1	237	1	0	0	0	0	1	0	0	0	9208	768	27	4	884	4	LZTR1	22	21345975	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		21345975	29958591	116	16493											
ESX1	80712	broad.mit.edu	37	chrX	103495282	103495282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccgggtggcacaggcGccatgcgtgagccgggtggc	4	5	20	12	4	0	1	0	1	0	0	0	1	0	1	3	6	2	1	3	6	0	0			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:103495282G>A	uc004ely.3	-	3	917	c.848C>T	c.(847-849)gCg>gTg	p.A283V		NM_153448	NP_703149	Q8N693	ESX1_HUMAN	Homo sapiens ESX homeobox 1 (ESX1), mRNA.	283	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TGGCACAGGCGCCATGCGTGA	0.726													A	103495282	G	A	103495282	3	1	237	1	0	0	0	0	1	0	0	0	5304	1087	38	1	376	1	ESX1	23	103495282	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08		103495282	51775278	117	16494											
GPC3	2719	broad.mit.edu	37	chrX	133087081	133087081	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatccccagaactcaccttgGaaaaccgcagcattctgaat	14	8	6	13	1	2	2	1	1	1	1	3	3	3	3	4	1	3	2	4	1	5	2			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrX:133087081G>C	uc010nrn.2	-	1	530	c.333C>G	c.(331-333)ttC>ttG	p.F111L	GPC3_uc004exe.2_Missense_Mutation_p.F111L|GPC3_uc011mvh.2_Intron|GPC3_uc010nro.2_Intron|GPC3_uc010nrp.2_5'UTR	NM_001164617	NP_001158089	P51654	GPC3_HUMAN	Homo sapiens glypican 3 (GPC3), transcript variant 1, mRNA.	111						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					ACTCACCTTGGAAAACCGCAG	0.373			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				C	133087081	G	C	133087081	3	2	237	1	0	0	0	0	1	0	0	0	6653	1165	41	4	1510	4	GPC3	23	133087081	Missense_Mutation	SNP	G	TCGA-32-4210-01A-01D-1353-08	29591799	133087081	22183479	118	16495											
NLGN4Y	22829	broad.mit.edu	37	chrY	16952864	16952864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgatatcactcacatcCagaacgaagagatcatgtct	16	9	6	10	1	4	3	3	1	1	2	5	5	5	3	1	0	1	0	1	0	4	1			TCGA-32-4210-01A-01D-1353-08	TCGA-32-4210-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f405dbf-5cc8-4414-bcbd-84ae10749ff2	fd897db5-4c2a-4614-8dca-ae20cb627fd2	g.chrY:16952864C>G	uc011nas.1	+	6	2412	c.2233C>G	c.(2233-2235)Cag>Gag	p.Q745E	NLGN4Y_uc004fte.2_Missense_Mutation_p.Q557E|NLGN4Y_uc004ftg.2_Missense_Mutation_p.Q725E|NLGN4Y_uc004ftf.2_Missense_Mutation_p.Q418E|NLGN4Y_uc004fth.2_Missense_Mutation_p.Q725E	NM_001206850	NP_001193779	Q8NFZ3	NLGNY_HUMAN	Homo sapiens neuroligin 4, Y-linked (NLGN4Y), transcript variant 3, mRNA.	725					brainstem development|cell adhesion|cerebellum development|male courtship behavior|positive regulation of organ growth|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|integral to plasma membrane|synapse	neurexin binding|receptor activity			large_intestine(3)|lung(7)|prostate(2)|skin(2)	14						CACTCACATCCAGAACGAAGA	0.547													G	16952864	C	G	16952864	3	3	237	1	0	0	0	0	1	0	0	0	10541	595	21	4	2345	4	NLGN4Y	24	16952864	Missense_Mutation	SNP	C	TCGA-32-4210-01A-01D-1353-08		16952864	42420702	119	16496											
AADACL4	343066	broad.mit.edu	37	chr1	12726355	12726355	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtacccccagacgtctGgaggaagtacgagaagtggc	10	8	14	9	2	1	2	0	0	1	2	1	5	1	4	2	3	2	2	2	3	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:12726355G>A	uc001auf.3	+	3	833	c.833G>A	c.(832-834)tGg>tAg	p.W278*		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	278						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCAGACGTCTGGAGGAAGTAC	0.532													A	12726355	G	A	12726355	4	1	238	1	0	0	0	0	0	1	0	0	13	1357	47	2	847	2	AADACL4	1	12726355	Nonsense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		12726355	236524266	1	16497											
LAPTM5	7805	broad.mit.edu	37	chr1	31210478	31210478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaggacagtgatgaaggcGatggaaaagatgatcatcat	17	8	12	4	1	2	4	2	3	0	1	2	7	2	6	0	3	0	0	0	3	4	1	rs144620246	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:31210478G>A	uc001bsc.2	-	5	670	c.579C>T	c.(577-579)atC>atT	p.I193I		NM_006762	NP_006753	Q13571	LAPM5_HUMAN	Homo sapiens lysosomal protein transmembrane 5 (LAPTM5), mRNA.	193					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TGATGAAGGCGATGGAAAAGA	0.542													A	31210478	G	A	31210478	2	1	238	1	0	0	0	0	0	0	0	1	8685	1048	37	1		1	LAPTM5	1	31210478	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	18484123	31210478	218040143	2	16498											
GJA9	81025	broad.mit.edu	37	chr1	39340374	39340374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagcagtgtttggaatgTcaagtgattgagaatctcct	12	13	10	6	0	3	2	2	2	1	1	4	4	3	3	1	1	1	2	1	1	4	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:39340374T>C	uc021olr.1	-	0	1397	c.1397A>G	c.(1396-1398)gAc>gGc	p.D466G	RRAGC_uc001ccr.2_5'Flank|MYCBP_uc001ccs.3_5'Flank|MYCBP_uc021olq.1_Intron	NM_030772	NP_110399	P57773	CXA9_HUMAN	Homo sapiens gap junction protein, alpha 9, 59kDa (GJA9), mRNA.	466					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			GTTTGGAATGTCAAGTGATTG	0.493													C	39340374	T	C	39340374	3	2	238	1	0	0	0	0	1	0	0	0	6462	1667	58	3	154	3	GJA9	1	39340374	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	8129896	39340374	209910247	3	16499											
DMBX1	127343	broad.mit.edu	37	chr1	46976216	46976216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagccgcacagcgttcacgGctcagcagctcgaggccctg	7	5	13	16	4	2	0	2	0	0	0	3	1	2	0	2	2	4	6	2	2	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:46976216G>A	uc001cpx.3	+	1	253	c.238G>A	c.(238-240)Gct>Act	p.A80T	DMBX1_uc001cpw.3_Missense_Mutation_p.A75T	NM_147192	NP_671725	Q8NFW5	DMBX1_HUMAN	Homo sapiens diencephalon/mesencephalon homeobox 1 (DMBX1), transcript variant 2, mRNA.	80	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AGCGTTCACGGCTCAGCAGCT	0.582													A	46976216	G	A	46976216	3	1	238	1	0	0	0	0	1	0	0	0	4617	1203	42	2	244	2	DMBX1	1	46976216	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	7635842	46976216	202274405	4	16500											
SPTA1	6708	broad.mit.edu	37	chr1	158647548	158647548	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtccttcagaggcaaCaaggtctttgccatagtcct	12	10	8	11	0	2	1	1	0	1	1	4	1	4	1	3	2	3	1	3	2	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:158647548C>G	uc001fst.1	-	6	1088	c.889G>C	c.(889-891)Gtt>Ctt	p.V297L		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	297					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCAGAGGCAACAAGGTCTTTG	0.478													G	158647548	C	G	158647548	3	3	238	1	0	0	0	0	1	0	0	0	15212	478	17	4	6554	4	SPTA1	1	158647548	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	111671332	158647548	90603073	5	16501											
USH2A	7399	broad.mit.edu	37	chr1	215848824	215848824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacagaggctgaggcgcCgagtgtgcacaacctgctct	8	7	13	13	2	1	2	0	1	1	1	2	3	2	2	3	2	3	3	3	2	1	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:215848824C>T	uc001hku.1	-	62	12816	c.12429G>A	c.(12427-12429)tcG>tcA	p.S4143S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4143	Fibronectin type-III 26.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.S4143S(2)		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)		GCTGAGGCGCCGAGTGTGCAC	0.572										HNSCC(13;0.011)			T	215848824	C	T	215848824	2	4	238	1	0	0	0	0	0	0	0	1	17138	639	23	1		1	USH2A	1	215848824	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	57201276	215848824	33401797	6	16502											
WDR26	80232	broad.mit.edu	37	chr1	224586247	224586247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatttaacaaagctaatcgGccattttttgaaatagtaaa	17	13	5	6	1	0	1	0	1	0	0	1	1	0	1	1	1	2	2	1	1	7	8			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:224586247G>A	uc001hop.4	-	10	1808	c.1614C>T	c.(1612-1614)ggC>ggT	p.G538G	WDR26_uc001hoq.4_Silent_p.G522G|WDR26_uc021pjp.1_Non-coding_Transcript|MIR4742_uc021pjq.1_5'Flank	NM_025160	NP_079436	Q9H7D7	WDR26_HUMAN	Homo sapiens WD repeat domain 26 (WDR26), transcript variant 1, mRNA.	538						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		AAGCTAATCGGCCATTTTTTG	0.274													A	224586247	G	A	224586247	2	1	238	1	0	0	0	0	0	0	0	1	17385	1190	42	2		2	WDR26	1	224586247	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	8737423	224586247	24664374	7	16503											
RYR2	6262	broad.mit.edu	37	chr1	237777926	237777926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctgctgatcatgggcaTctttcacaacgaggacttga	10	11	9	11	1	3	2	2	2	1	0	3	4	3	3	1	2	3	2	1	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr1:237777926T>C	uc001hyl.1	+	36	5618	c.5498T>C	c.(5497-5499)aTc>aCc	p.I1833T		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1833	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATCATGGGCATCTTTCACAAC	0.498													C	237777926	T	C	237777926	3	2	238	1	0	0	0	0	1	0	0	0	13860	1435	50	3	5644	3	RYR2	1	237777926	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13191679	237777926	11472695	8	16504											
TPO	7173	broad.mit.edu	37	chr2	1459947	1459947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcatggggacaatacatcGaccacgacatcgcgttcaca	12	7	10	12	4	1	0	1	0	0	0	3	3	1	1	1	3	1	2	1	3	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:1459947G>A	uc002qwr.3	+	6	798	c.712G>A	c.(712-714)Gac>Aac	p.D238N	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.D238N|TPO_uc002qwx.3_Missense_Mutation_p.D238N|TPO_uc002qwu.3_Missense_Mutation_p.D238N|TPO_uc010yio.2_Missense_Mutation_p.D238N|TPO_uc010yip.2_Missense_Mutation_p.D238N	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	238					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACAATACATCGACCACGACAT	0.522													A	1459947	G	A	1459947	3	1	238	1	0	0	0	0	1	0	0	0	16511	1058	37	1	734	1	TPO	2	1459947	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		1459947	241739426	9	16505											
APOB	338	broad.mit.edu	37	chr2	21231021	21231021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtcttgatctcgttgcGcaggtcagcctgactagaga	8	11	12	10	2	3	3	1	2	2	1	4	4	3	3	1	1	2	2	1	1	1	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:21231021G>A	uc002red.3	-	25	8847	c.8719C>T	c.(8719-8721)Cgc>Tgc	p.R2907C		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	2907					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCTCGTTGCGCAGGTCAGCC	0.468													A	21231021	G	A	21231021	3	1	238	1	0	0	0	0	1	0	0	0	788	1087	38	1	4988	1	APOB	2	21231021	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	19771074	21231021	221968352	10	16506											
ALK	238	broad.mit.edu	37	chr2	29443572	29443572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagactggttctcactcacCgggcgagggcgggtctctcg	7	8	14	12	4	3	1	2	0	2	1	6	2	3	1	1	4	0	1	1	4	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:29443572C>T	uc002rmy.3	-	23	4597	c.3645_splice	c.e23+1	p.P1215_splice	ALK_uc010ymo.2_Splice_Site_p.P147_splice	NM_004304	NP_004295	Q9UM73	ALK_HUMAN	Homo sapiens anaplastic lymphoma receptor tyrosine kinase (ALK), mRNA.	1215	Protein kinase.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TCTCACTCACCGGGCGAGGGC	0.612			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	29443572	C	T	29443572	2	4	238	1	0	0	0	0	0	0	0	1	525	666	23	1		1	ALK	2	29443572	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	8212551	29443572	213755801	11	16507											
POTEF	728378	broad.mit.edu	37	chr2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcttcatagcagagtcgtCgtggtctccagaagcgccca	8	10	11	12	3	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:130877830C>T	uc010fmh.2	-	2	659	c.259G>A	c.(259-261)Gac>Aac	p.D87N		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	87						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602													T	130877830	C	T	130877830	3	4	238	1	0	0	0	0	1	0	0	0	12342	884	31	1	3028	1	POTEF	2	130877830	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	101434258	130877830	112321543	12	16508											
POTEE	445582	broad.mit.edu	37	chr2	131976234	131976234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggcgcttctggagaccacGacgactctgctatgaagaca	10	8	12	11	3	2	3	0	1	2	2	2	6	2	3	1	2	1	2	1	2	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:131976234G>A	uc002tsn.2	+	0	311	c.259G>A	c.(259-261)Gac>Aac	p.D87N	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	87							ATP binding										TGGAGACCACGACGACTCTGC	0.602													A	131976234	G	A	131976234	3	1	238	1	0	0	0	0	1	0	0	0	12341	1058	37	1	261	1	POTEE	2	131976234	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1098404	131976234	111223139	13	16509											
SCN1A	6323	broad.mit.edu	37	chr2	166850722	166850722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtaaaataataatggcGtagagagatgagtttcagta	17	11	11	2	1	1	3	1	1	0	2	1	4	1	3	0	2	0	4	0	2	7	6	rs121917993		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:166850722G>A	uc002udo.4	-	26	5013	c.4786C>T	c.(4786-4788)Cgc>Tgc	p.R1596C	SCN1A_uc010fpk.3_Missense_Mutation_p.R1568C|SCN1A_uc021vsb.1_Missense_Mutation_p.R1585C	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	1596			R -> C (in a patient with cryptogenic focal epilepsy; dbSNP:rs121917993).			voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1585C(1)|p.R1596C(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TAATAATGGCGTAGAGAGATG	0.338													A	166850722	G	A	166850722	3	1	238	1	0	0	0	0	1	0	0	0	14007	1145	40	1	1251	1	SCN1A	2	166850722	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	34874488	166850722	76348651	14	16510											
TTN	7273	broad.mit.edu	37	chr2	179587016	179587016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtctagcactagaagatgCtgttccaagtgggttggaag	11	10	14	6	0	1	2	0	0	1	2	2	4	2	3	1	2	2	4	1	2	5	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:179587016C>T	uc021vsy.1	-	73	18991	c.18766G>A	c.(18766-18768)Gca>Aca	p.A6256T	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.A2917T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	7183							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTAGAAGATGCTGTTCCAAGT	0.408													T	179587016	C	T	179587016	3	4	238	1	0	0	0	0	1	0	0	0	16837	797	28	2	82175	2	TTN	2	179587016	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	12736294	179587016	63612357	15	16511											
UBE2E3	10477	broad.mit.edu	37	chr2	181846854	181846854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaccagcgagacccagccGctccagagcctgaagaacaa	13	2	11	15	3	0	4	0	1	0	3	1	6	1	5	5	1	4	1	5	1	3	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:181846854G>A	uc002unq.1	+	2	304	c.85G>A	c.(85-87)Gct>Act	p.A29T	UBE2E3_uc002unr.1_Missense_Mutation_p.A29T|UBE2E3_uc010fri.1_Missense_Mutation_p.A29T	NM_182678	NP_872619	Q969T4	UB2E3_HUMAN	Homo sapiens ubiquitin-conjugating enzyme E2E 3 (UBE2E3), transcript variant 2, mRNA.	29					protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|regulation of growth	cytoplasm|nucleolus	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(2)|endometrium(3)|lung(4)|ovary(1)|skin(1)	11						AGACCCAGCCGCTCCAGAGCC	0.507													A	181846854	G	A	181846854	3	1	238	1	0	0	0	0	1	0	0	0	16956	1087	38	1	87	1	UBE2E3	2	181846854	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2259838	181846854	61352519	16	16512											
HIBCH	26275	broad.mit.edu	37	chr2	191110923	191110923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagtataaaagacttgtCtcgatcaatcttagactgtt	13	14	6	8	1	4	2	2	0	2	2	5	3	4	2	0	0	0	2	0	0	6	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr2:191110923C>T	uc002uru.3	-	9	1061	c.766G>A	c.(766-768)Gac>Aac	p.D256N	HIBCH_uc002urv.3_Missense_Mutation_p.D256N	NM_014362	NP_055177	Q6NVY1	HIBCH_HUMAN	Homo sapiens 3-hydroxyisobutyryl-CoA hydrolase (HIBCH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	256					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			AAAGACTTGTCTCGATCAATC	0.254													T	191110923	C	T	191110923	3	4	238	1	0	0	0	0	1	0	0	0	7155	913	32	2	414	2	HIBCH	2	191110923	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	9264069	191110923	52088450	17	16513											
NBEAL2	23218	broad.mit.edu	37	chr3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaagatgtgctgaccCggctatatgtcctggaggct	7	10	14	10	1	0	2	0	1	0	1	1	3	1	3	2	4	1	5	2	4	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:47041457C>T	uc003cqp.3	+	26	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_uc010hjm.2_Intron|NBEAL2_uc010hjn.2_5'Flank	NM_015175	NP_055990	Q6ZNJ1	NBEL2_HUMAN	Homo sapiens neurobeachin-like 2 (NBEAL2), mRNA.	1290							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637													T	47041457	C	T	47041457	3	4	238	1	0	0	0	0	1	0	0	0	10265	643	23	1	3974	1	NBEAL2	3	47041457	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		47041457	150980973	18	16514											
AMT	275	broad.mit.edu	37	chr3	49459869	49459870	+	Frame_Shift_Ins	INS	-	-	A																															ccagacgggccaccacacttINSacagccctctgcatcgtcgc																										TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:49459869_49459870insA	uc003cww.3	-	0	242_243	c.14_15insT	c.(13-15)gtafs	p.V5fs	AMT_uc011bcn.2_5'UTR|AMT_uc003cwx.3_Frame_Shift_Ins_p.V5fs|AMT_uc011bco.2_Frame_Shift_Ins_p.V5fs|AMT_uc003cwy.3_5'UTR|AMT_uc011bcq.2_Frame_Shift_Ins_p.V5fs|AMT_uc011bcp.2_5'UTR|NICN1_uc003cwz.1_3'UTR	NM_000481	NP_000472	P48728	GCST_HUMAN	Homo sapiens aminomethyltransferase (AMT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	5					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CCACCACACTTACAGCCCTCTG	0.639													A	49459870	-	A	49459869	7	5	238	1	0	1	1	0	0	0	0	0	589	1741	61	0	1260	0	AMT	3	49459869	Frame_Shift_Ins	INS	-	TCGA-32-4211-01A-01D-1353-08	2418412	49459869	148562561	19	16515											
CACNA2D2	9254	broad.mit.edu	37	chr3	50414925	50414925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggtcagcctcttgatGtcattcagagccacgtcaat	8	12	11	10	1	5	2	4	1	1	1	5	2	5	2	2	2	2	0	2	2	1	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:50414925G>T	uc003daq.3	-	16	1637	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	CACNA2D2_uc003dap.3_Missense_Mutation_p.D533E	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	533	Cache.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	GCCTCTTGATGTCATTCAGAG	0.597													T	50414925	G	T	50414925	3	4	238	1	0	0	0	0	1	0	0	0	2575	1368	48	4	1951	4	CACNA2D2	3	50414925	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	955056	50414925	147607505	20	16516											
NR1I2	8856	broad.mit.edu	37	chr3	119536025	119536025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccctttgctacgccccTcatgcaggagttgttcggca	7	10	9	15	2	1	0	1	0	0	0	2	1	1	1	4	2	3	5	4	2	1	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:119536025T>C	uc003edj.3	+	8	3110	c.1271T>C	c.(1270-1272)cTc>cCc	p.L424P	NR1I2_uc003edi.3_Missense_Mutation_p.L387P|NR1I2_uc003edk.3_Missense_Mutation_p.L463P|NR1I2_uc003edl.3_Missense_Mutation_p.L312P	NM_003889	NP_003880	O75469	NR1I2_HUMAN	Homo sapiens nuclear receptor subfamily 1, group I, member 2 (NR1I2), transcript variant 1, mRNA.	424	Ligand-binding.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	GCTACGCCCCTCATGCAGGAG	0.622													C	119536025	T	C	119536025	3	2	238	1	0	0	0	0	1	0	0	0	10696	1551	54	3	1422	3	NR1I2	3	119536025	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	69121100	119536025	78486405	21	16517											
CSTA	1475	broad.mit.edu	37	chr3	122060340	122060340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtattcaaaagtcttcccGgacaaaatgaggacttggta	15	10	9	7	1	2	1	1	1	1	0	3	3	3	3	1	3	0	2	1	3	7	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:122060340G>A	uc003eex.3	+	2	352	c.223G>A	c.(223-225)Gga>Aga	p.G75R		NM_005213	NP_005204	P01040	CYTA_HUMAN	Homo sapiens cystatin A (stefin A) (CSTA), mRNA.	75					keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|nucleus	cysteine-type endopeptidase inhibitor activity|protease binding|protein binding, bridging|structural molecule activity	p.P74P(1)		large_intestine(2)|lung(2)	4				GBM - Glioblastoma multiforme(114;0.155)		AAGTCTTCCCGGACAAAATGA	0.378													A	122060340	G	A	122060340	3	1	238	1	0	0	0	0	1	0	0	0	4014	1117	39	1	233	1	CSTA	3	122060340	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2524315	122060340	75962090	22	16518											
CLSTN2	64084	broad.mit.edu	37	chr3	140178466	140178466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgatcttcaagtttgaCggcaggcagggtgccaaagt	11	9	14	7	1	2	3	1	2	1	1	2	4	2	3	1	3	1	3	1	3	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:140178466C>T	uc003etn.3	+	6	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	CLSTN2_uc003etm.2_Silent_p.D359D	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	359					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)			T	140178466	C	T	140178466	2	4	238	1	0	0	0	0	0	0	0	1	3593	535	19	1		1	CLSTN2	3	140178466	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	18118126	140178466	57843964	23	16519											
ETV5	2119	broad.mit.edu	37	chr3	185766628	185766628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtcacagacaaatttgtAgacgtatcgctctccagcca	11	10	9	11	2	2	2	1	0	1	2	4	2	2	2	2	1	1	3	2	1	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:185766628A>G	uc003fpy.3	-	12	1524	c.1459T>C	c.(1459-1461)Tac>Cac	p.Y487H	ETV5_uc003fpz.3_Missense_Mutation_p.Y445H	NM_004454	NP_004445	P41161	ETV5_HUMAN	Homo sapiens ets variant 5 (ETV5), mRNA.	445					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			ACAAATTTGTAGACGTATCGC	0.562			T	"TMPRSS2, SCL45A3"	Prostate								G	185766628	A	G	185766628	3	3	238	1	0	0	0	0	1	0	0	0	5323	420	15	3	203	3	ETV5	3	185766628	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08	45588162	185766628	12255802	24	16520											
SST	6750	broad.mit.edu	37	chr3	187387016	187387016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagggcatcattctccGtctggttgggttcagacagc	6	12	12	11	1	4	1	2	0	2	1	6	1	5	1	2	3	1	4	2	3	0	4	rs149673471		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr3:187387016G>A	uc003frn.3	-	1	310	c.188C>T	c.(187-189)aCg>aTg	p.T63M		NM_001048	NP_001039	P61278	SMS_HUMAN	Homo sapiens somatostatin (SST), mRNA.	63					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity	p.T63T(2)		kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	ATCATTCTCCGTCTGGTTGGG	0.517													A	187387016	G	A	187387016	3	1	238	1	0	0	0	0	1	0	0	0	15292	1145	40	1	166	1	SST	3	187387016	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1620388	187387016	10635414	25	16521											
ZNF718	255403	broad.mit.edu	37	chr4	155819	155819	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaaaattcacactgtagaTaaaccctacaaatgtaaaga	21	8	5	7	0	1	3	1	0	0	3	1	3	1	3	1	0	2	2	1	0	10	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:155819T>G	uc003fzt.4	+	3	1500	c.1344T>G	c.(1342-1344)gaT>gaG	p.D448E	ZNF718_uc003fzu.1_Intron|ZNF718_uc010iaz.3_Non-coding_Transcript|ZNF718_uc003fzw.4_3'UTR	NM_001039127	NP_001034216	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 718 (ZNF718), mRNA.	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		ACACTGTAGATAAACCCTACA	0.353													G	155819	T	G	155819	3	3	238	1	0	0	0	0	1	0	0	0	18221	1403	49	5	1358	5	ZNF718	4	155819	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08		155819	190998457	26	16522											
FGFRL1	53834	broad.mit.edu	37	chr4	1018886	1018886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccgcccgccggggacGgcccgcgaccgcagcggaga	6	0	18	17	8	0	1	0	0	0	1	0	4	0	2	5	5	1	2	5	5	0	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:1018886G>A	uc003gce.3	+	6	1427	c.1266G>A	c.(1264-1266)acG>acA	p.T422T	FGFRL1_uc003gcf.3_Silent_p.T422T|FGFRL1_uc003gcg.3_Silent_p.T422T|FGFRL1_uc010ibo.3_Silent_p.T422T	NM_021923	NP_068742	Q8N441	FGRL1_HUMAN	Homo sapiens fibroblast growth factor receptor-like 1 (FGFRL1), transcript variant 3, mRNA.	422					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.G421E(1)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			CGCCGGGGACGGCCCGCGACC	0.731													A	1018886	G	A	1018886	2	1	238	1	0	0	0	0	0	0	0	1	5918	1103	39	1		1	FGFRL1	4	1018886	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	863067	1018886	190135390	27	16523											
TLR6	10333	broad.mit.edu	37	chr4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtatgttcctggccctgCgccgagtctgggtccactgg	4	10	15	12	2	1	0	0	0	1	0	3	1	3	0	4	4	1	2	4	4	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:38829218C>T	uc010ifg.2	-	1	1998	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_uc003gtm.3_Missense_Mutation_p.R626H	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	626					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													T	38829218	C	T	38829218	3	4	238	1	0	0	0	0	1	0	0	0	16055	768	27	1	517	1	TLR6	4	38829218	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	37810332	38829218	152325058	28	16524											
PITX2	5308	broad.mit.edu	37	chr4	111553638	111553638	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccgccggctgcacgccTgggccacgcgcgcgcccgcc	3	2	15	21	9	0	0	0	0	0	0	0	0	0	0	6	3	1	2	6	3	0	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:111553638T>A	uc003iaf.3	-	5	1870	c.47_splice	c.e5-1	p.G16_splice	PITX2_uc003iad.3_Splice_Site_p.G16_splice|PITX2_uc021xqr.1_Splice_Site_p.G16_splice|PITX2_uc003iae.3_Intron|PITX2_uc021xqs.1_Intron	NM_001204397	NP_001191326	Q99697	PITX2_HUMAN	Homo sapiens paired-like homeodomain 2 (PITX2), transcript variant 4, mRNA.	16					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCTGCACGCCTGGGCCACGCG	0.687													A	111553638	T	A	111553638	5	1	238	1	0	0	0	0	0	0	1	0	12032	1594	55	5	1129	5	PITX2	4	111553638	Splice_Site	SNP	T	TCGA-32-4211-01A-01D-1353-08	72724420	111553638	79600638	29	16525											
ANK2	287	broad.mit.edu	37	chr4	114251595	114251595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggccagtcgcctgatcGaagttggaccttctggtgct	5	11	13	12	2	1	1	0	1	1	0	3	3	1	2	4	3	1	2	4	3	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:114251595G>A	uc003ibe.4	+	26	3194	c.3094G>A	c.(3094-3096)Gaa>Aaa	p.E1032K	ANK2_uc003ibd.4_Missense_Mutation_p.E1023K|ANK2_uc003ibf.4_Missense_Mutation_p.E1032K|ANK2_uc011cgc.2_Missense_Mutation_p.E241K|ANK2_uc003ibg.4_Missense_Mutation_p.E60K|ANK2_uc003ibc.2_Missense_Mutation_p.E1008K|ANK2_uc011cgb.1_Missense_Mutation_p.E1047K	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1021	Interaction with SPTBN1.|ZU5.				axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCGCCTGATCGAAGTTGGACC	0.532													A	114251595	G	A	114251595	3	1	238	1	0	0	0	0	1	0	0	0	621	1059	37	1	3265	1	ANK2	4	114251595	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2697957	114251595	76902681	30	16526											
GPM6A	2823	broad.mit.edu	37	chr4	176594942	176594942	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaaaatgccatacacaaaGaacgcagctgcgatgccgta	16	5	9	11	3	0	1	0	0	0	1	0	2	0	1	2	0	7	4	2	0	6	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr4:176594942G>C	uc003iuf.3	-	2	1080	c.276C>G	c.(274-276)ttC>ttG	p.F92L	GPM6A_uc011ckj.2_Missense_Mutation_p.F85L|GPM6A_uc003iug.3_Missense_Mutation_p.F92L|GPM6A_uc003iuh.3_Missense_Mutation_p.F81L	NM_201591	NP_963885	P51674	GPM6A_HUMAN	Homo sapiens glycoprotein M6A (GPM6A), transcript variant 2, mRNA.	92						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		CATACACAAAGAACGCAGCTG	0.418													C	176594942	G	C	176594942	3	2	238	1	0	0	0	0	1	0	0	0	6669	933	33	4	580	4	GPM6A	4	176594942	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	62343347	176594942	14559334	31	16527											
DNAH5	1767	broad.mit.edu	37	chr5	13809274	13809274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtattcctgggtacgcGtgttccagtgcgtccatgta	7	12	12	10	3	0	0	0	0	0	0	3	0	3	0	3	2	2	4	3	2	3	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:13809274G>A	uc003jfd.2	-	45	7673	c.7631C>T	c.(7630-7632)aCg>aTg	p.T2544M		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	2544					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.T2544M(2)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CTGGGTACGCGTGTTCCAGTG	0.438									Kartagener syndrome				A	13809274	G	A	13809274	3	1	238	1	0	0	0	0	1	0	0	0	4643	1145	40	1	6379	1	DNAH5	5	13809274	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		13809274	167105986	32	16528											
GRAMD3	65983	broad.mit.edu	37	chr5	125822670	125822670	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggacacccataatactgaGtaagacgattgcctctagct	12	10	9	10	1	1	2	0	1	1	1	1	4	1	3	2	1	3	2	2	1	4	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:125822670G>T	uc011cwt.2	+	12	1444	c.1208_splice	c.e12+1	p.E403_splice	GRAMD3_uc003ktu.3_Splice_Site_p.E388_splice|GRAMD3_uc011cwv.2_Splice_Site_p.E396_splice|GRAMD3_uc011cww.2_Splice_Site_p.E284_splice|GRAMD3_uc011cwx.2_Splice_Site|GRAMD3_uc011cwy.2_Splice_Site_p.E279_splice|GRAMD3_uc011cwz.2_Splice_Site_p.E372_splice	NM_001146319	NP_001139791	Q96HH9	GRAM3_HUMAN	Homo sapiens GRAM domain containing 3 (GRAMD3), transcript variant 1, mRNA.	388										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		Prostate(80;0.0928)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0401)|OV - Ovarian serous cystadenocarcinoma(64;0.0604)|all cancers(49;0.108)		ATAATACTGAGTAAGACGATT	0.403													T	125822670	G	T	125822670	5	4	238	1	0	0	0	0	0	0	1	0	6806	1043	36	4	1424	4	GRAMD3	5	125822670	Splice_Site	SNP	G	TCGA-32-4211-01A-01D-1353-08	112013396	125822670	55092590	33	16529											
ADAM19	8728	broad.mit.edu	37	chr5	156916128	156916128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttcgcttgccctggggCgtctgcagcttgaaagttgg	5	12	13	11	2	1	1	0	1	1	0	2	1	1	1	2	3	3	4	2	3	1	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr5:156916128C>T	uc003lwz.3	-	19	2386	c.2307G>A	c.(2305-2307)acG>acA	p.T769T	ADAM19_uc003lww.2_Silent_p.T502T|ADAM19_uc003lwy.3_Silent_p.T368T|ADAM19_uc011ddr.1_Silent_p.T700T	NM_033274	NP_150377	Q9H013	ADA19_HUMAN	Homo sapiens ADAM metallopeptidase domain 19 (ADAM19), mRNA.	769					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCTGGGGCGTCTGCAGCT	0.483													T	156916128	C	T	156916128	2	4	238	1	0	0	0	0	0	0	0	1	240	755	27	1		1	ADAM19	5	156916128	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	31093458	156916128	23999132	34	16530											
IRF4	3662	broad.mit.edu	37	chr6	398917	398917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaagcataaggtctgccGaagccttggcgttctcaggt	9	9	12	11	2	2	0	1	0	2	0	3	1	2	0	3	3	4	2	3	3	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:398917G>A	uc003msz.4	+	5	853	c.727G>A	c.(727-729)Gaa>Aaa	p.E243K	IRF4_uc010jne.2_Missense_Mutation_p.E243K|IRF4_uc003mtb.4_Missense_Mutation_p.E242K|IRF4_uc021ykl.1_Missense_Mutation_p.E89K|IRF4_uc003mta.4_Non-coding_Transcript|IRF4_uc003mtc.1_Missense_Mutation_p.E73K	NM_002460	NP_002451	Q15306	IRF4_HUMAN	Homo sapiens interferon regulatory factor 4 (IRF4), transcript variant 1, mRNA.	243					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.E243K(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		AAGGTCTGCCGAAGCCTTGGC	0.592			T	IGH@	MM								A	398917	G	A	398917	3	1	238	1	0	0	0	0	1	0	0	0	7890	1059	37	1	745	1	IRF4	6	398917	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		398917	170716150	35	16531											
F13A1	2162	broad.mit.edu	37	chr6	6225003	6225003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtattccaatagaatgtcaaCgcttccagtccaggccgatg	11	10	9	11	2	1	1	1	0	0	1	4	2	4	1	4	1	1	2	4	1	5	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:6225003C>T	uc003mwv.3	-	6	1012	c.889G>A	c.(889-891)Gtt>Att	p.V297I	F13A1_uc011dib.2_Missense_Mutation_p.V234I	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	297					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	AGAATGTCAACGCTTCCAGTC	0.488													T	6225003	C	T	6225003	3	4	238	1	0	0	0	0	1	0	0	0	5382	536	19	1	1345	1	F13A1	6	6225003	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	5826086	6225003	164890064	36	16532											
JARID2	3720	broad.mit.edu	37	chr6	15504806	15504806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcagcaaggagcctGccccagccgaaatcgaggtg	9	8	13	11	2	1	0	1	0	0	0	2	3	1	1	4	2	4	2	4	2	2	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:15504806G>T	uc003nbj.3	+	8	2768	c.2524G>T	c.(2524-2526)Gcc>Tcc	p.A842S	JARID2_uc011div.2_Missense_Mutation_p.A670S|JARID2_uc011diw.1_Missense_Mutation_p.A804S	NM_004973	NP_004964	Q92833	JARD2_HUMAN	Homo sapiens jumonji, AT rich interactive domain 2 (JARID2), mRNA.	842					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CAAGGAGCCTGCCCCAGCCGA	0.522													T	15504806	G	T	15504806	3	4	238	1	0	0	0	0	1	0	0	0	8003	1319	46	4	2558	4	JARID2	6	15504806	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	9279803	15504806	155610261	37	16533											
KIF13A	63971	broad.mit.edu	37	chr6	17800257	17800257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaggctcccactttcacTggaattctccgaagagtcat	10	12	7	12	1	4	1	3	0	1	1	6	3	5	2	2	2	0	1	2	2	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:17800257T>G	uc003ncg.4	-	20	2702	c.2542A>C	c.(2542-2544)Agt>Cgt	p.S848R	KIF13A_uc003ncf.3_Missense_Mutation_p.S848R|KIF13A_uc003nch.4_Missense_Mutation_p.S848R|KIF13A_uc003nci.4_Missense_Mutation_p.S848R	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	848					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CCACTTTCACTGGAATTCTCC	0.542													G	17800257	T	G	17800257	3	3	238	1	0	0	0	0	1	0	0	0	8332	1580	55	5	2976	5	KIF13A	6	17800257	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	2295451	17800257	153314810	38	16534											
ABCC10	89845	broad.mit.edu	37	chr6	43415637	43415637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcgagtgctgctggaCggcgtggacaccagccagct	7	6	16	12	3	1	0	1	0	0	0	1	3	1	2	2	4	4	3	2	4	0	0	rs144509707		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:43415637C>T	uc003ouy.1	+	17	4136	c.3921C>T	c.(3919-3921)gaC>gaT	p.D1307D	ABCC10_uc003ouz.1_Silent_p.D1279D|ABCC10_uc010jyo.1_Silent_p.D413D	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1307	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCTGCTGGACGGCGTGGACA	0.632													T	43415637	C	T	43415637	2	4	238	1	0	0	0	0	0	0	0	1	50	535	19	1		1	ABCC10	6	43415637	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	25615380	43415637	127699430	39	16535											
ENPP4	22875	broad.mit.edu	37	chr6	46111073	46111073	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tccatttctagctgcccacgGacctgcatttcacaaaggct	9	11	7	14	1	2	0	1	0	1	0	3	1	3	1	3	2	3	3	3	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:46111073G>C	uc003oxy.3	+	3	1317	c.1058G>C	c.(1057-1059)gGa>gCa	p.G353A		NM_014936	NP_055751	Q9Y6X5	ENPP4_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative) (ENPP4), mRNA.	353						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						GCTGCCCACGGACCTGCATTT	0.388													C	46111073	G	C	46111073	3	2	238	1	0	0	0	0	1	0	0	0	5173	1174	41	4	1068	4	ENPP4	6	46111073	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2695436	46111073	125003994	40	16536											
SYNJ2	8871	broad.mit.edu	37	chr6	158438287	158438287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggcaagctcacggacgCgtacggctgcctgggggagc	7	6	17	11	4	1	0	1	0	0	0	1	2	1	2	1	5	4	5	1	5	3	2	rs143362296	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:158438287C>T	uc003qqx.2	+	1	285	c.179C>T	c.(178-180)gCg>gTg	p.A60V	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Missense_Mutation_p.A60V|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_5'Flank|SYNJ2_uc010kjo.1_5'Flank	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	60							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTCACGGACGCGTACGGCTGC	0.602													T	158438287	C	T	158438287	3	4	238	1	0	0	0	0	1	0	0	0	15550	768	27	1	185	1	SYNJ2	6	158438287	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	112327214	158438287	12676780	41	16537											
FNDC1	84624	broad.mit.edu	37	chr6	159653361	159653361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcttttccctggccaCgcagccccgcccaggggcgc	3	6	13	19	3	0	0	0	0	0	0	1	0	1	0	6	4	1	2	6	4	0	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:159653361C>T	uc010kjv.3	+	10	2017	c.1817C>T	c.(1816-1818)aCg>aTg	p.T606M	FNDC1_uc010kjw.1_Missense_Mutation_p.T491M	NM_032532	NP_115921	Q4ZHG4	FNDC1_HUMAN	Homo sapiens fibronectin type III domain containing 1 (FNDC1), mRNA.	606						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TCCCTGGCCACGCAGCCCCGC	0.706													T	159653361	C	T	159653361	3	4	238	1	0	0	0	0	1	0	0	0	6017	536	19	1	1859	1	FNDC1	6	159653361	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	1215074	159653361	11461706	42	16538											
RPS6KA2	6196	broad.mit.edu	37	chr6	166844032	166844032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatctctgccggaggatgCggtccaggagctccccacca	8	7	12	14	2	1	0	0	0	1	0	4	3	3	3	5	4	3	2	5	4	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:166844032C>T	uc003qvd.1	-	17	1678	c.1565G>A	c.(1564-1566)cGc>cAc	p.R522H	RPS6KA2_uc011ego.1_Missense_Mutation_p.R408H|RPS6KA2_uc010kkl.1_Missense_Mutation_p.R408H|RPS6KA2_uc003qvb.1_Missense_Mutation_p.R497H|RPS6KA2_uc003qvc.1_Missense_Mutation_p.R505H	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	497	Protein kinase 2.				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)		CCGGAGGATGCGGTCCAGGAG	0.592													T	166844032	C	T	166844032	3	4	238	1	0	0	0	0	1	0	0	0	13742	768	27	1	735	1	RPS6KA2	6	166844032	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7190671	166844032	4271035	43	16539											
TTLL2	83887	broad.mit.edu	37	chr6	167754158	167754158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatataaatgtgatctccGcatctatgtttgtgttactg	10	16	8	7	1	2	2	0	1	2	1	3	2	2	2	1	0	1	3	1	0	5	5	rs34053826		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr6:167754158G>A	uc003qvs.1	+	2	858	c.770G>A	c.(769-771)cGc>cAc	p.R257H		NM_031949	NP_114155	Q9BWV7	TTLL2_HUMAN	Homo sapiens tubulin tyrosine ligase-like family, member 2 (TTLL2), mRNA.	257	TTL.				protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGTGATCTCCGCATCTATGTT	0.358													A	167754158	G	A	167754158	3	1	238	1	0	0	0	0	1	0	0	0	16829	1087	38	1	780	1	TTLL2	6	167754158	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	910126	167754158	3360909	44	16540											
GPR141	353345	broad.mit.edu	37	chr7	37780661	37780661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatcccaccaggagttctgGgctcagctgaaaaacctatt	11	10	8	12	0	2	1	1	1	1	0	3	2	3	2	3	2	2	3	3	2	4	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:37780661G>A	uc003tfm.1	+	0	666	c.666G>A	c.(664-666)tgG>tgA	p.W222*	BC043356_uc003tfl.3_Intron	NM_181791	NP_861456	Q7Z602	GP141_HUMAN	Homo sapiens G protein-coupled receptor 141 (GPR141), mRNA.	222						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGTTCTGGGCTCAGCTGA	0.433													A	37780661	G	A	37780661	4	1	238	1	0	0	0	0	0	1	0	0	6703	1241	43	2	668	2	GPR141	7	37780661	Nonsense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		37780661	121358002	45	16541											
C7orf57	136288	broad.mit.edu	37	chr7	48092478	48092478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaggatgcagccaggCtccaggatgcagaggcttct	8	7	13	13	0	1	1	0	0	1	1	3	3	3	3	4	4	3	4	4	4	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:48092478C>A	uc003toh.4	+	6	999	c.787C>A	c.(787-789)Ctc>Atc	p.L263I	C7orf57_uc003toi.4_Missense_Mutation_p.L121I	NM_001100159	NP_001093629	Q8NEG2	CG057_HUMAN	Homo sapiens chromosome 7 open reading frame 57 (C7orf57), mRNA.	263										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TGCAGCCAGGCTCCAGGATGC	0.572													A	48092478	C	A	48092478	3	1	238	1	0	0	0	0	1	0	0	0	2428	797	28	4	809	4	C7orf57	7	48092478	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	10311817	48092478	111046185	46	16542											
POM121	9883	broad.mit.edu	37	chr7	72413425	72413425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccgctcccatcatatccgGgagccaacccccagcccgca	8	4	7	22	3	1	0	1	0	0	0	3	1	3	1	8	1	3	2	8	1	2	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:72413425G>A	uc003twk.2	+	10	2893	c.2893G>A	c.(2893-2895)Gga>Aga	p.G965R	POM121_uc003twj.3_Missense_Mutation_p.G700R|POM121_uc010lam.1_Missense_Mutation_p.G700R	NM_172020	NP_742017	Q96HA1	P121A_HUMAN	Homo sapiens POM121 membrane glycoprotein (POM121), mRNA.	965	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATCATATCCGGGAGCCAACCC	0.647													A	72413425	G	A	72413425	3	1	238	1	0	0	0	0	1	0	0	0	12316	1233	43	2	2136	2	POM121	7	72413425	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	24320947	72413425	86725238	47	16543											
GNAT3	346562	broad.mit.edu	37	chr7	80088106	80088106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgggaataaatttccttatCttctttttttaaattcaggt	10	20	6	5	0	3	0	1	0	2	0	4	1	4	1	1	2	0	0	1	2	6	9			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:80088106C>T	uc011kgu.2	-	7	946	c.946G>A	c.(946-948)Gat>Aat	p.D316N	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	316					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						ATTTCCTTATCTTCTTTTTTT	0.323													T	80088106	C	T	80088106	3	4	238	1	0	0	0	0	1	0	0	0	6569	913	32	2	120	2	GNAT3	7	80088106	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7674681	80088106	79050557	48	16544											
DLX6	1750	broad.mit.edu	37	chr7	96637111	96637111	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttccagagagagccgaaCtggcagcttccttaggactg	9	8	11	13	1	0	2	0	0	0	2	2	5	2	3	4	2	3	2	4	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:96637111C>G	uc022ahu.1	+	1	598	c.598C>G	c.(598-600)Ctg>Gtg	p.L200V	DLX6-AS1_uc003uol.3_Intron|DLX6-AS1_uc010lfo.1_Intron	NM_005222	NP_005213	P56179	DLX6_HUMAN	Homo sapiens distal-less homeobox 6 (DLX6), mRNA.	82					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					GAGAGCCGAACTGGCAGCTTC	0.532													G	96637111	C	G	96637111	3	3	238	1	0	0	0	0	1	0	0	0	4614	564	20	4	604	4	DLX6	7	96637111	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	16549005	96637111	62501552	49	16545											
SLC26A3	1811	broad.mit.edu	37	chr7	107434196	107434196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaattttaccttgtagtaCggccacaatccctgtgctga	12	12	7	10	1	0	1	0	1	0	0	1	1	1	1	3	1	3	3	3	1	6	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:107434196C>T	uc003ver.2	-	2	473	c.262G>A	c.(262-264)Gta>Ata	p.V88I	SLC26A3_uc003ves.2_Missense_Mutation_p.V53I	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	88					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ccttGTAGTACGGCCACAATC	0.383													T	107434196	C	T	107434196	3	4	238	1	0	0	0	0	1	0	0	0	14612	536	19	1	2108	1	SLC26A3	7	107434196	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	10797085	107434196	51704467	50	16546											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138432176	138432176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggacactcacctcattGtctgtcttctgggagagcaa	10	11	9	11	0	5	1	2	0	3	1	5	3	5	2	1	2	1	1	1	2	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:138432176G>T	uc003vuf.3	-	11	1552	c.1314C>A	c.(1312-1314)gaC>gaA	p.D438E	ATP6V0A4_uc003vug.3_Missense_Mutation_p.D438E|ATP6V0A4_uc003vuh.3_Missense_Mutation_p.D438E	NM_130841	NP_570856	Q9HBG4	VPP4_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal V0 subunit a4 (ATP6V0A4), transcript variant 3, mRNA.	438					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						TCACCTCATTGTCTGTCTTCT	0.428													T	138432176	G	T	138432176	3	4	238	1	0	0	0	0	1	0	0	0	1175	1368	48	4	1248	4	ATP6V0A4	7	138432176	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	30997980	138432176	20706487	51	16547											
OR2A12	346525	broad.mit.edu	37	chr7	143792752	143792752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtcaaatcatgtccgtattCaaattggcctgtgctgacac	10	13	8	10	1	3	1	3	1	0	0	4	1	4	1	2	1	1	2	2	1	3	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143792752C>T	uc011kty.2	+	0	552	c.552C>T	c.(550-552)ttC>ttT	p.F184F		NM_001004135	NP_001004135	Q8NGT7	O2A12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 12 (OR2A12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TGTCCGTATTCAAATTGGCCT	0.493													T	143792752	C	T	143792752	2	4	238	1	0	0	0	0	0	0	0	1	11051	825	29	2		2	OR2A12	7	143792752	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	5360576	143792752	15345911	52	16548											
OR2A7	401427	broad.mit.edu	37	chr7	143956670	143956670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctgaatccttgggccaaCgggaaatcccagtaggagga	12	7	12	10	1	1	1	0	1	1	0	3	4	3	4	3	4	1	1	3	4	4	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr7:143956670C>T	uc011kuc.2	-	0	52	c.52G>A	c.(52-54)Gtt>Att	p.V18I	OR2A9P_uc003wec.1_Intron|OR2A7_uc003wef.3_Non-coding_Transcript	NM_001005328	NP_001005328	Q96R45	OR2A7_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 7 (OR2A7), mRNA.	18					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P17S(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CTTGGGCCAACGGGAAATCCC	0.498													T	143956670	C	T	143956670	3	4	238	1	0	0	0	0	1	0	0	0	11058	536	19	1	883	1	OR2A7	7	143956670	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	163918	143956670	15181993	53	16549											
CYP7A1	1581	broad.mit.edu	37	chr8	59409723	59409723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagtggtatttccatccatCgggtcaatgcttctgtgccc	6	14	9	12	1	3	0	2	0	1	0	6	0	5	0	3	2	2	2	3	2	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:59409723C>T	uc003xtm.4	-	2	411	c.348G>A	c.(346-348)ccG>ccA	p.P116P		NM_000780	NP_000771	P22680	CP7A1_HUMAN	Homo sapiens cytochrome P450, family 7, subfamily A, polypeptide 1 (CYP7A1), mRNA.	116					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TTCCATCCATCGGGTCAATGC	0.418									Neonatal Giant Cell Hepatitis				T	59409723	C	T	59409723	2	4	238	1	0	0	0	0	0	0	0	1	4229	871	31	1		1	CYP7A1	8	59409723	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08		59409723	86954299	54	16550											
TRPA1	8989	broad.mit.edu	37	chr8	72948586	72948586	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattgctccacattgccacTgcagatgagctggtatttca	10	12	8	11	0	1	2	1	1	0	1	2	2	2	2	2	1	4	4	2	1	2	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:72948586T>A	uc003xza.3	-	20	2667	c.2492A>T	c.(2491-2493)cAg>cTg	p.Q831L	LOC100132891_uc011lff.2_Intron|LOC100132891_uc022avt.1_Intron|LOC100132891_uc003xyy.3_Intron	NM_007332	NP_015628	O75762	TRPA1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily A, member 1 (TRPA1), mRNA.	831						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACATTGCCACTGCAGATGAGC	0.353													A	72948586	T	A	72948586	3	1	238	1	0	0	0	0	1	0	0	0	16678	1580	55	5	895	5	TRPA1	8	72948586	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13538863	72948586	73415436	55	16551											
TMEM70	54968	broad.mit.edu	37	chr8	74888704	74888704	+	Frame_Shift_Del	DEL	T	T	-																															ttcgggagccgcgcgccttcTccggcgtccgggtcgagcgc																										TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:74888704delT	uc003yab.3	+	0	328	c.188delT	c.(187-189)ctcfs	p.L63fs	TMEM70_uc022awa.1_Non-coding_Transcript|TMEM70_uc003yac.3_Frame_Shift_Del_p.L63fs	NM_017866	NP_060336	Q9BUB7	TMM70_HUMAN	Homo sapiens transmembrane protein 70 (TMEM70), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	63					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			GCGCGCCTTCTCCGGCGTCCG	0.766													-	74888704	T	-	74888704	7	5	238	1	0	1	0	1	0	0	0	0	16299	1551	54	0	190	0	TMEM70	8	74888704	Frame_Shift_Del	DEL	T	TCGA-32-4211-01A-01D-1353-08	1940118	74888704	71475318	56	16552											
ZNF623	9831	broad.mit.edu	37	chr8	144733275	144733275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaggaatgtgggaaagcGtttctccagaaagcccatct	12	10	11	8	1	2	1	0	0	2	1	3	3	2	3	2	2	2	2	2	2	4	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr8:144733275G>A	uc003yzd.2	+	0	1322	c.1233G>A	c.(1231-1233)gcG>gcA	p.A411A	ZNF623_uc011lkp.1_Silent_p.A371A|ZNF623_uc003yzc.2_Silent_p.A371A	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GTGGGAAAGCGTTTCTCCAGA	0.478													A	144733275	G	A	144733275	2	1	238	1	0	0	0	0	0	0	0	1	18148	1132	40	1		1	ZNF623	8	144733275	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	69844571	144733275	1630747	57	16553											
KIAA0020	9933	broad.mit.edu	37	chr9	2829880	2829880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacgatggctgatgcttccGcatgccgcagcatcttcctc	6	10	9	16	3	1	1	0	1	1	0	4	2	3	1	4	1	3	5	4	1	0	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:2829880G>A	uc003zhp.1	-	7	842	c.746C>T	c.(745-747)gCg>gTg	p.A249V	KIAA0020_uc003zhq.1_Missense_Mutation_p.A248V	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	249	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TGATGCTTCCGCATGCCGCAG	0.443													A	2829880	G	A	2829880	3	1	238	1	0	0	0	0	1	0	0	0	8210	1087	38	1	1244	1	KIAA0020	9	2829880	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		2829880	138383551	58	16554											
OR1L4	254973	broad.mit.edu	37	chr9	125486747	125486747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctacattccctgttccGcgtgctacttatgtctcgct	5	14	6	16	3	1	0	0	0	1	0	4	0	3	0	4	0	3	3	4	0	3	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr9:125486747G>A	uc004bmu.1	+	0	479	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily L, member 4 (OR1L4), mRNA.	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TCCCTGTTCCGCGTGCTACTT	0.478													A	125486747	G	A	125486747	3	1	238	1	0	0	0	0	1	0	0	0	11041	1087	38	1	481	1	OR1L4	9	125486747	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	122656867	125486747	15726684	59	16555											
ARMC3	219681	broad.mit.edu	37	chr10	23235138	23235138	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaatgcttaattctccagaAgaggaaattttggctaaagc	14	13	8	6	0	1	2	0	0	1	2	2	3	1	3	1	2	2	2	1	2	6	6			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:23235138A>G	uc001irm.4	+	2	197	c.114A>G	c.(112-114)gaA>gaG	p.E38E	ARMC3_uc010qcv.2_Silent_p.E38E|ARMC3_uc010qcw.2_Intron	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	38							binding	p.P37E(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTCTCCAGAAGAGGAAATTT	0.303													G	23235138	A	G	23235138	2	3	238	1	0	0	0	0	0	0	0	1	957	69	3	3		3	ARMC3	10	23235138	Silent	SNP	A	TCGA-32-4211-01A-01D-1353-08		23235138	112299609	60	16556											
ARMC4	55130	broad.mit.edu	37	chr10	28283881	28283881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcaaatgctgagggcGccaaacttgtgttccattca	10	12	9	10	1	2	2	2	2	0	0	3	2	3	2	2	1	2	2	2	1	2	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:28283881G>A	uc009xky.3	-	1	289	c.191C>T	c.(190-192)gCg>gTg	p.A64V	ARMC4_uc001itz.3_Missense_Mutation_p.A64V	NM_018076	NP_060546	Q5T2S8	ARMC4_HUMAN	Homo sapiens armadillo repeat containing 4 (ARMC4), mRNA.	64							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TGCTGAGGGCGCCAAACTTGT	0.358													A	28283881	G	A	28283881	3	1	238	1	0	0	0	0	1	0	0	0	958	1087	38	1	3019	1	ARMC4	10	28283881	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	5048743	28283881	107250866	61	16557											
DNTT	1791	broad.mit.edu	37	chr10	98084132	98084132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaagcctgaaatttacacGaatgcagaaagcaggtaaat	19	7	8	7	1	0	2	0	1	0	1	0	3	0	2	1	1	4	3	1	1	8	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:98084132G>A	uc001kmf.3	+	5	1030	c.860G>A	c.(859-861)cGa>cAa	p.R287Q	DNTT_uc001kmg.3_Missense_Mutation_p.R287Q	NM_004088	NP_004079	P04053	TDT_HUMAN	Homo sapiens deoxynucleotidyltransferase, terminal (DNTT), transcript variant 1, mRNA.	287	Mediates interaction with DNTTIP2.				DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		AAATTTACACGAATGCAGAAA	0.453													A	98084132	G	A	98084132	3	1	238	1	0	0	0	0	1	0	0	0	4719	1058	37	1	882	1	DNTT	10	98084132	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	69800251	98084132	37450615	62	16558											
ITPRIP	85450	broad.mit.edu	37	chr10	106075308	106075308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttccagcaagtcatccaCgaagccttccaggaactccc	10	7	8	16	1	1	0	1	0	0	0	5	2	5	1	5	2	3	2	5	2	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr10:106075308C>T	uc001kyf.3	-	2	955	c.502G>A	c.(502-504)Gtg>Atg	p.V168M	ITPRIP_uc001kye.3_Missense_Mutation_p.V168M|ITPRIP_uc001kyg.3_Missense_Mutation_p.V168M|ITPRIP_uc021pxv.1_Missense_Mutation_p.V168M	NM_033397	NP_203755	Q8IWB1	IPRI_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor interacting protein (ITPRIP), mRNA.	168						plasma membrane		p.V168M(2)		breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						AAGTCATCCACGAAGCCTTCC	0.622													T	106075308	C	T	106075308	3	4	238	1	0	0	0	0	1	0	0	0	7981	536	19	1	1145	1	ITPRIP	10	106075308	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	7991176	106075308	29459439	63	16559											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077216	19077216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttccagatccataatattAggaaccactgaatgccaaag	15	9	6	11	0	0	2	0	1	0	1	2	3	2	3	5	1	2	0	5	1	6	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:19077216A>G	uc001mph.3	-	1	822	c.734T>C	c.(733-735)cTa>cCa	p.L245P	MRGPRX2_uc021qer.1_Missense_Mutation_p.L245P	NM_054030	NP_473371	Q96LB1	MRGX2_HUMAN	Homo sapiens MAS-related GPR, member X2 (MRGPRX2), mRNA.	245					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding	p.F244L(2)		NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						CCATAATATTAGGAACCACTG	0.498													G	19077216	A	G	19077216	3	3	238	1	0	0	0	0	1	0	0	0	9843	420	15	3	262	3	MRGPRX2	11	19077216	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08		19077216	115929300	64	16560											
C11orf94	143678	broad.mit.edu	37	chr11	45928455	45928455	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggctgcgagagttccAggggggcggaaaatgcctca	11	6	16	8	2	1	1	1	0	0	1	2	3	2	2	2	5	2	2	2	5	3	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:45928455A>G	uc001nbs.4	-	1	177	c.140T>C	c.(139-141)cTg>cCg	p.L47P		NM_001080446	NP_001073915	C9JXX5	CK094_HUMAN	Homo sapiens chromosome 11 open reading frame 94 (C11orf94), mRNA.	47						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|ovary(1)|pancreas(1)|prostate(1)	7						CGAGAGTTCCAGGGGGGCGGA	0.617													G	45928455	A	G	45928455	3	3	238	1	0	0	0	0	1	0	0	0	1686	188	7	3	164	3	C11orf94	11	45928455	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08	26851239	45928455	89078061	65	16561											
SMTNL1	219537	broad.mit.edu	37	chr11	57314061	57314061	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttcttccctgacgcctttGactacgcagagctggatccc	7	11	9	14	2	1	3	0	2	1	1	3	4	3	4	3	1	2	3	3	1	1	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:57314061G>C	uc021qjh.1	+	5	1278	c.1276G>C	c.(1276-1278)Gac>Cac	p.D426H		NM_001105565	NP_001099035	E9PPJ3	E9PPJ3_HUMAN	Homo sapiens smoothelin-like 1 (SMTNL1), mRNA.	426										endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	8						TGACGCCTTTGACTACGCAGA	0.587													C	57314061	G	C	57314061	3	2	238	1	0	0	0	0	1	0	0	0	14909	1290	45	4	1356	4	SMTNL1	11	57314061	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	11385606	57314061	77692455	66	16562											
NUMA1	4926	broad.mit.edu	37	chr11	71729532	71729532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggctaggcggtcaatgCgctgctgcatcatggctatc	7	9	14	11	2	2	0	2	0	0	0	3	0	2	0	0	4	3	6	0	4	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr11:71729532C>T	uc001orl.1	-	10	942	c.770G>A	c.(769-771)cGc>cAc	p.R257H	NUMA1_uc009ysw.1_5'Flank|NUMA1_uc001ork.1_Missense_Mutation_p.R257H|NUMA1_uc001orm.1_Missense_Mutation_p.R257H|NUMA1_uc001orn.2_5'Flank|NUMA1_uc009ysx.1_Missense_Mutation_p.R257H|NUMA1_uc001oro.1_Missense_Mutation_p.R257H|NUMA1_uc009ysy.2_Missense_Mutation_p.R257H|NUMA1_uc001orp.3_Missense_Mutation_p.R257H|NUMA1_uc001orq.3_Missense_Mutation_p.R257H	NM_006185	NP_006176	Q14980	NUMA1_HUMAN	Homo sapiens nuclear mitotic apparatus protein 1 (NUMA1), mRNA.	257					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCGGTCAATGCGCTGCTGCAT	0.557			T	RARA	APL								T	71729532	C	T	71729532	3	4	238	1	0	0	0	0	1	0	0	0	10826	768	27	1	5645	1	NUMA1	11	71729532	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	14415471	71729532	63276984	67	16563											
ADAMTS20	80070	broad.mit.edu	37	chr12	43846340	43846340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtatcttggaagccacCtcacattagagggaatgcca	12	9	9	11	0	2	1	1	0	1	1	2	3	2	3	3	2	2	1	3	2	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:43846340C>G	uc010skx.2	-	12	1919	c.1919G>C	c.(1918-1920)aGg>aCg	p.R640T		NM_025003	NP_079279	P59510	ATS20_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 20 (ADAMTS20), mRNA.	640	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TGGAAGCCACCTCACATTAGA	0.368													G	43846340	C	G	43846340	3	3	238	1	0	0	0	0	1	0	0	0	266	681	24	4	3920	4	ADAMTS20	12	43846340	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		43846340	90005555	68	16564											
DCTN2	10540	broad.mit.edu	37	chr12	57939864	57939864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcgctagtttcataaacatCtggctcattcctggcctgca	8	13	8	12	1	3	0	2	0	1	0	5	0	4	0	2	2	2	4	2	2	3	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:57939864C>T	uc021qzn.1	-	1	184	c.52G>A	c.(52-54)Gat>Aat	p.D18N	DCTN2_uc001som.1_Missense_Mutation_p.D18N|DCTN2_uc009zpv.1_5'UTR|DCTN2_uc009zpw.1_5'UTR	NM_006400	NP_006391	Q13561	DCTN2_HUMAN	Homo sapiens dynactin 2 (p50) (DCTN2), mRNA.	18					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TCATAAACATCTGGCTCATTC	0.517													T	57939864	C	T	57939864	3	4	238	1	0	0	0	0	1	0	0	0	4341	913	32	2	1206	2	DCTN2	12	57939864	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	14093524	57939864	75912031	69	16565											
TMTC2	160335	broad.mit.edu	37	chr12	83251229	83251229	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggggctggttcctggggtCaggactgtgcgcaggatgca	5	9	18	9	1	1	0	1	0	0	0	2	2	2	2	1	7	2	4	1	7	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251229C>G	uc001szt.3	+	1	956	c.524C>G	c.(523-525)tCa>tGa	p.S175*	TMTC2_uc001szr.1_Nonsense_Mutation_p.S175*|TMTC2_uc001szs.1_Nonsense_Mutation_p.S175*|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	175						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTCCTGGGGTCAGGACTGTGC	0.507													G	83251229	C	G	83251229	4	3	238	1	0	0	0	0	0	1	0	0	16361	838	29	4	530	4	TMTC2	12	83251229	Nonsense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	25311365	83251229	50600666	70	16566											
TMTC2	160335	broad.mit.edu	37	chr12	83251308	83251308	+	Silent	SNP	C	C	G																															gtttcagcagtttatgatgtCtttgtctttcacaggctgaa																										TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251308C>G	uc001szt.3	+	1	1035	c.603C>G	c.(601-603)gtC>gtG	p.V201V	TMTC2_uc001szr.1_Silent_p.V201V|TMTC2_uc001szs.1_Silent_p.V201V|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	201						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TTTATGATGTCTTTGTCTTTC	0.443													G	83251308	C	G	83251308	2	3	238	1	0	0	0	0	0	0	0	1	16361	900	32	4		4	TMTC2	12	83251308	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	79	83251308	50600587	71	16567	21	2									
TMTC2	160335	broad.mit.edu	37	chr12	83251314	83251314	+	Silent	SNP	C	C	G																															gcagtttatgatgtctttgtCtttcacaggctgaaaataaa																								rs138847027		TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:83251314C>G	uc001szt.3	+	1	1041	c.609C>G	c.(607-609)gtC>gtG	p.V203V	TMTC2_uc001szr.1_Silent_p.V203V|TMTC2_uc001szs.1_Silent_p.V203V|TMTC2_uc010suk.2_Intron	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	203						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						ATGTCTTTGTCTTTCACAGGC	0.428													G	83251314	C	G	83251314	2	3	238	1	0	0	0	0	0	0	0	1	16361	900	32	4		4	TMTC2	12	83251314	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	6	83251314	50600581	72	16568	21	2									
HVCN1	84329	broad.mit.edu	37	chr12	111089040	111089040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accattgatgatccgggccaCccgccacagccggagcagaa	11	4	11	15	3	0	3	0	2	0	1	1	4	1	4	6	2	2	1	6	2	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:111089040C>A	uc001trs.1	-	5	790	c.625G>T	c.(625-627)Gtg>Ttg	p.V209L	HVCN1_uc001trq.1_Missense_Mutation_p.V209L|HVCN1_uc001trt.1_Missense_Mutation_p.V209L|HVCN1_uc010syd.1_Missense_Mutation_p.V189L	NM_032369	NP_115745	Q96D96	HVCN1_HUMAN	Homo sapiens hydrogen voltage-gated channel 1 (HVCN1), transcript variant 2, mRNA.	209					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						ATCCGGGCCACCCGCCACAGC	0.602													A	111089040	C	A	111089040	3	1	238	1	0	0	0	0	1	0	0	0	7520	507	18	4	208	4	HVCN1	12	111089040	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	27837726	111089040	22762855	73	16569											
TBX5	6910	broad.mit.edu	37	chr12	114832609	114832609	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagacgtgagtgcagaaCgctgtattttttgagccaaa	13	10	12	6	2	0	4	0	2	0	2	0	5	0	5	1	1	3	3	1	1	4	4	rs139329918	byFrequency	TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:114832609C>T	uc001tvo.3	-	5	1095	c.600G>A	c.(598-600)gcG>gcA	p.A200A	TBX5_uc001tvp.3_Silent_p.A200A|TBX5_uc001tvq.3_Silent_p.A150A|TBX5_uc010syv.2_Silent_p.A200A	NM_181486	NP_542448	Q99593	TBX5_HUMAN	Homo sapiens T-box 5 (TBX5), transcript variant 4, mRNA.	200					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.A200A(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		GAGTGCAGAACGCTGTATTTT	0.433													T	114832609	C	T	114832609	2	4	238	1	0	0	0	0	0	0	0	1	15761	523	19	1		1	TBX5	12	114832609	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	3743569	114832609	19019286	74	16570											
GCN1L1	10985	broad.mit.edu	37	chr12	120596393	120596393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactctggcttcagcaggcGcagggtcacgtggctcacca	8	7	12	14	2	4	0	3	0	1	0	4	0	4	0	1	4	1	4	1	4	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr12:120596393G>A	uc001txo.3	-	24	2789	c.2776C>T	c.(2776-2778)Cgc>Tgc	p.R926C		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	926					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTCAGCAGGCGCAGGGTCACG	0.582													A	120596393	G	A	120596393	3	1	238	1	0	0	0	0	1	0	0	0	6353	1087	38	1	5375	1	GCN1L1	12	120596393	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	5763784	120596393	13255502	75	16571											
SYT16	83851	broad.mit.edu	37	chr14	62547880	62547880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccgcctgtacgctgcccGgaagatgacccgagagagaa	10	6	12	13	4	0	4	0	1	0	3	1	7	1	5	4	1	2	2	4	1	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:62547880G>A	uc001xfu.1	+	3	1519	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	SYT16_uc010tsd.1_3'UTR|SYT16_uc010tse.1_5'UTR	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	441	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TACGCTGCCCGGAAGATGACC	0.567													A	62547880	G	A	62547880	3	1	238	1	0	0	0	0	1	0	0	0	15569	1116	39	1	1336	1	SYT16	14	62547880	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		62547880	44801660	76	16572											
NRXN3	9369	broad.mit.edu	37	chr14	80130234	80130234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtacgcttcaccaggaaCggcggcaacgccaccctgca	9	5	12	15	4	1	0	1	0	0	0	1	1	1	1	3	4	4	4	3	4	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:80130234C>T	uc001xun.3	+	13	2930	c.2439C>T	c.(2437-2439)aaC>aaT	p.N813N	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc001xup.2_Non-coding_Transcript|NRXN3_uc001xuq.2_Silent_p.N181N|NRXN3_uc010asw.3_Silent_p.N181N|NRXN3_uc001xur.4_Silent_p.N181N	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	181					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TCACCAGGAACGGCGGCAACG	0.488													T	80130234	C	T	80130234	2	4	238	1	0	0	0	0	0	0	0	1	10743	535	19	1		1	NRXN3	14	80130234	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	17582354	80130234	27219306	77	16573											
JAG2	3714	broad.mit.edu	37	chr14	105609172	105609172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgagaggaacttctccgCctccagggagtcctcctcac	7	9	11	14	1	2	1	1	1	1	1	6	4	5	3	5	2	1	0	5	2	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr14:105609172C>T	uc001yqg.3	-	25	3981	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T	JAG2_uc001yqf.3_Missense_Mutation_p.A597T|JAG2_uc001yqh.3_Missense_Mutation_p.A1155T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	1193					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AACTTCTCCGCCTCCAGGGAG	0.706													T	105609172	C	T	105609172	3	4	238	1	0	0	0	0	1	0	0	0	7993	739	26	2	143	2	JAG2	14	105609172	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	25478938	105609172	1740368	78	16574											
SLC28A2	9153	broad.mit.edu	37	chr15	45556870	45556870	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtgtcctggaggacagtGttttcgggcctaggtcttca	6	13	14	8	1	2	0	1	0	1	0	4	2	3	2	2	5	0	1	2	5	2	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:45556870G>A	uc001zva.2	+	6	671	c.606G>A	c.(604-606)gtG>gtA	p.V202V		NM_004212	NP_004203	O43868	S28A2_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 2 (SLC28A2), mRNA.	202					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity	p.V202V(2)		NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GGAGGACAGTGTTTTCGGGCC	0.433													A	45556870	G	A	45556870	2	1	238	1	0	0	0	0	0	0	0	1	14626	1364	48	2		2	SLC28A2	15	45556870	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08		45556870	56974522	79	16575											
HERC1	8925	broad.mit.edu	37	chr15	63970125	63970125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagcagcgtggcatggCgcccagtttgcttgtgaaca	7	9	12	13	2	0	1	0	1	0	0	1	1	1	1	2	2	4	4	2	2	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:63970125C>T	uc002amp.3	-	36	7137	c.6989G>A	c.(6988-6990)cGc>cAc	p.R2330H		NM_003922	NP_003913	Q15751	HERC1_HUMAN	Homo sapiens hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1 (HERC1), mRNA.	2330					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CGTGGCATGGCGCCCAGTTTG	0.527													T	63970125	C	T	63970125	3	4	238	1	0	0	0	0	1	0	0	0	7112	768	27	1	7764	1	HERC1	15	63970125	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	18413255	63970125	38561267	80	16576											
TLE3	7090	broad.mit.edu	37	chr15	70347545	70347545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgtgttgatctgccggGcgtgcctcgggatgccgggg	3	10	19	9	4	1	2	0	2	1	0	2	3	1	3	3	4	3	1	3	4	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr15:70347545G>A	uc002asl.2	-	13	1731	c.1430C>T	c.(1429-1431)gCc>gTc	p.A477V	TLE3_uc002ask.2_Missense_Mutation_p.A404V|TLE3_uc010ukd.1_Missense_Mutation_p.A467V|TLE3_uc010bil.1_Missense_Mutation_p.A474V|TLE3_uc002asn.2_Missense_Mutation_p.A465V|TLE3_uc002asm.2_Missense_Mutation_p.A477V|TLE3_uc002asp.2_Missense_Mutation_p.A469V|TLE3_uc002aso.2_Missense_Mutation_p.A472V	NM_001105192	NP_001098662	Q04726	TLE3_HUMAN	Homo sapiens transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila) (TLE3), transcript variant 2, mRNA.	477					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GATCTGCCGGGCGTGCCTCGG	0.642													A	70347545	G	A	70347545	3	1	238	1	0	0	0	0	1	0	0	0	16040	1203	42	2	912	2	TLE3	15	70347545	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	6377420	70347545	32183847	81	16577											
NOD2	64127	broad.mit.edu	37	chr16	50763750	50763750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtccaataactgcatcacCtacctaggggcagaagccct	11	9	8	13	0	1	1	1	0	0	1	2	1	2	1	4	2	4	2	4	2	5	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:50763750C>T	uc002egm.1	+	10	3093	c.2988C>T	c.(2986-2988)acC>acT	p.T996T	NOD2_uc010vgq.1_Silent_p.T41T	NM_022162	NP_071445	Q9HC29	NOD2_HUMAN	Homo sapiens nucleotide-binding oligomerization domain containing 2 (NOD2), mRNA.	996					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTGCATCACCTACCTAGGGG	0.502													T	50763750	C	T	50763750	2	4	238	1	0	0	0	0	0	0	0	1	10593	668	24	2		2	NOD2	16	50763750	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08		50763750	39591003	82	16578											
KLHL36	79786	broad.mit.edu	37	chr16	84691222	84691222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagggcttcatcgaggaggCcgtgcgctaccacaacaacc	10	5	12	14	4	1	0	1	0	0	0	2	3	1	1	3	3	4	2	3	3	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:84691222C>A	uc002fig.3	+	2	950	c.809C>A	c.(808-810)gCc>gAc	p.A270D	KLHL36_uc010chl.3_Missense_Mutation_p.A269D	NM_024731	NP_079007	Q8N4N3	KLH36_HUMAN	Homo sapiens kelch-like 36 (Drosophila) (KLHL36), mRNA.	270										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						ATCGAGGAGGCCGTGCGCTAC	0.677													A	84691222	C	A	84691222	3	1	238	1	0	0	0	0	1	0	0	0	8447	739	26	4	815	4	KLHL36	16	84691222	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	33927472	84691222	5663531	83	16579											
ZC3H18	124245	broad.mit.edu	37	chr16	88643657	88643657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caggatttggacggggcgggGgtgagggcttctgatctgga	6	9	20	6	2	2	2	0	2	2	0	2	5	2	5	0	8	0	1	0	8	0	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr16:88643657G>A	uc010voz.2	+	1	326	c.126G>A	c.(124-126)ggG>ggA	p.G42G	ZC3H18_uc021tmm.1_Silent_p.G42G|ZC3H18_uc010voy.1_Silent_p.G42G|ZC3H18_uc002fky.3_Silent_p.G42G|ZC3H18_uc010vpa.1_Silent_p.G42G	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	42						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		ACGGGGCGGGGGTGAGGGCTT	0.612													A	88643657	G	A	88643657	2	1	238	1	0	0	0	0	0	0	0	1	17669	1219	43	2		2	ZC3H18	16	88643657	Silent	SNP	G	TCGA-32-4211-01A-01D-1353-08	3952435	88643657	1711096	84	16580											
NLRP1	22861	broad.mit.edu	37	chr17	5461860	5461860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcgtacaagcagtggAgggactccagagagtgtggc	10	7	16	8	1	1	1	0	0	1	1	3	5	2	3	1	3	2	2	1	3	2	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:5461860A>G	uc002gci.3	-	3	2711	c.2156T>C	c.(2155-2157)cTc>cCc	p.L719P	NLRP1_uc002gcg.1_Missense_Mutation_p.L719P|NLRP1_uc002gch.4_Missense_Mutation_p.L719P|NLRP1_uc002gck.3_Missense_Mutation_p.L719P|NLRP1_uc002gcj.3_Missense_Mutation_p.L719P|NLRP1_uc002gcl.3_Missense_Mutation_p.L719P|NLRP1_uc010clh.3_Missense_Mutation_p.L719P	NM_033004	NP_127497	Q9C000	NALP1_HUMAN	Homo sapiens NLR family, pyrin domain containing 1 (NLRP1), transcript variant 1, mRNA.	719					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CAAGCAGTGGAGGGACTCCAG	0.537													G	5461860	A	G	5461860	3	3	238	1	0	0	0	0	1	0	0	0	10547	304	11	3	2396	3	NLRP1	17	5461860	Missense_Mutation	SNP	A	TCGA-32-4211-01A-01D-1353-08		5461860	75733350	85	16581											
DNAH2	146754	broad.mit.edu	37	chr17	7643075	7643075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgtcagtatcacttcGcccgctgggaagatggcaag	9	9	13	10	2	2	2	2	1	0	1	3	3	2	3	1	2	0	3	1	2	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:7643075G>A	uc002giu.1	+	7	1209	c.1195G>A	c.(1195-1197)Gcc>Acc	p.A399T	DNAH2_uc002git.3_Missense_Mutation_p.A481T|DNAH2_uc010vuk.2_Missense_Mutation_p.A399T	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	399	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.A399V(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GTATCACTTCGCCCGCTGGGA	0.488													A	7643075	G	A	7643075	3	1	238	1	0	0	0	0	1	0	0	0	4641	1087	38	1	1225	1	DNAH2	17	7643075	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	2181215	7643075	73552135	86	16582											
TP53I13	90313	broad.mit.edu	37	chr17	27899699	27899699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggggcccacagcggacagCcaggacacagtggctggtga	9	4	17	11	1	0	1	0	1	0	0	0	3	0	3	2	6	2	1	2	6	0	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:27899699C>T	uc002hee.3	+	5	1091	c.1053C>T	c.(1051-1053)agC>agT	p.S351S		NM_138349	NP_612358	Q8NBR0	P5I13_HUMAN	Homo sapiens tumor protein p53 inducible protein 13 (TP53I13), mRNA.	351						cytoplasm|integral to membrane|plasma membrane				NS(1)|kidney(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(3;0.236)		CAGCGGACAGCCAGGACACAG	0.701													T	27899699	C	T	27899699	2	4	238	1	0	0	0	0	0	0	0	1	16487	738	26	2		2	TP53I13	17	27899699	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	20256624	27899699	53295511	87	16583											
RHBDL3	162494	broad.mit.edu	37	chr17	30611787	30611787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggtcctcctggctcttgCcgacagccacgcggatgggc	5	7	15	14	3	1	0	0	0	1	0	3	3	3	2	4	5	2	1	4	5	0	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30611787C>T	uc010csx.1	+	2	259	c.245C>T	c.(244-246)gCc>gTc	p.A82V	RHBDL3_uc002hhe.1_Missense_Mutation_p.A82V|RHBDL3_uc010csw.1_Missense_Mutation_p.A74V|RHBDL3_uc010csy.1_Intron|RHBDL3_uc002hhf.1_Intron			P58872	RHBL3_HUMAN	Homo sapiens rhomboid, veinlet-like 3 (Drosophila) (RHBDL3), mRNA.	82	EF-hand 2.				proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				CTGGCTCTTGCCGACAGCCAC	0.592													T	30611787	C	T	30611787	3	4	238	1	0	0	0	0	1	0	0	0	13412	739	26	2	255	2	RHBDL3	17	30611787	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	2712088	30611787	50583423	88	16584											
ZNF207	7756	broad.mit.edu	37	chr17	30685561	30685561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgccgtaccaaatgcaataCctggaagaacagacatagag	17	6	9	9	1	0	3	0	0	0	3	0	4	0	4	3	1	5	2	3	1	7	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:30685561C>T	uc010csz.3	+	3	564	c.217C>T	c.(217-219)Cct>Tct	p.P73S	ZNF207_uc002hhj.4_Missense_Mutation_p.P70S|ZNF207_uc002hhh.4_Missense_Mutation_p.P70S|ZNF207_uc002hhi.4_Missense_Mutation_p.P70S|ZNF207_uc002hhk.1_Missense_Mutation_p.P70S|ZNF207_uc002hhl.1_5'Flank			O43670	ZN207_HUMAN	Homo sapiens zinc finger protein 207 (ZNF207), transcript variant 3, mRNA.	70						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AAATGCAATACCTGGAAGAAC	0.333													T	30685561	C	T	30685561	3	4	238	1	0	0	0	0	1	0	0	0	17866	507	18	2	218	2	ZNF207	17	30685561	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	73774	30685561	50509649	89	16585											
KRT9	3857	broad.mit.edu	37	chr17	39725742	39725742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgctcatactcctgaCgcatgtcattgagggtcttg	7	13	11	10	1	3	3	2	3	1	0	4	3	4	3	1	1	3	3	1	1	1	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:39725742C>T	uc002hxe.4	-	3	1046	c.980G>A	c.(979-981)cGt>cAt	p.R327H	JUP_uc010wfs.2_Intron	NM_000226	NP_000217	P35527	K1C9_HUMAN	Homo sapiens keratin 9 (KRT9), mRNA.	327	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton	p.R327H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				ATACTCCTGACGCATGTCATT	0.502													T	39725742	C	T	39725742	3	4	238	1	0	0	0	0	1	0	0	0	8559	536	19	1	907	1	KRT9	17	39725742	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	9040181	39725742	41469468	90	16586											
ACLY	47	broad.mit.edu	37	chr17	40065323	40065323	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataaaactggccagaattcTagaggtgggagggagagagg	14	6	17	4	0	1	3	0	0	1	3	1	7	1	5	1	5	1	0	1	5	4	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr17:40065323T>G	uc002hyg.3	-	6	700	c.537_splice	c.e6-1	p.E179_splice	ACLY_uc002hyh.3_Splice_Site_p.E179_splice|ACLY_uc002hyi.3_Splice_Site_p.E233_splice|ACLY_uc010wfx.2_Splice_Site_p.E233_splice|ACLY_uc010wfy.2_Intron	NM_001096	NP_001087	P53396	ACLY_HUMAN	Homo sapiens ATP citrate lyase (ACLY), transcript variant 1, mRNA.	179					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				GCCAGAATTCTAGAGGTGGGA	0.562													G	40065323	T	G	40065323	5	3	238	1	0	0	0	0	0	0	1	0	143	1536	53	5	2866	5	ACLY	17	40065323	Splice_Site	SNP	T	TCGA-32-4211-01A-01D-1353-08	339581	40065323	41129887	91	16587											
SMCHD1	23347	broad.mit.edu	37	chr18	2752502	2752502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaggcagaaacatttagttGtaataaaataaaagataatg	20	11	7	3	0	0	2	0	0	0	2	0	2	0	2	0	1	1	3	0	1	9	8			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:2752502G>A	uc002klm.4	+	33	4487	c.4298G>A	c.(4297-4299)tGt>tAt	p.C1433Y	SMCHD1_uc002klk.4_Non-coding_Transcript|SMCHD1_uc002kll.4_Non-coding_Transcript	NM_015295	NP_056110	A6NHR9	SMHD1_HUMAN	Homo sapiens structural maintenance of chromosomes flexible hinge domain containing 1 (SMCHD1), mRNA.	1433					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						ACATTTAGTTGTAATAAAATA	0.303													A	2752502	G	A	2752502	3	1	238	1	0	0	0	0	1	0	0	0	14882	1377	48	2	4432	2	SMCHD1	18	2752502	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		2752502	75324746	92	16588											
LAMA1	284217	broad.mit.edu	37	chr18	7036079	7036079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcaggaatccgccaaaCgcagtcagctgaaatgttta	13	11	8	9	2	2	1	2	1	0	0	3	2	3	2	2	1	2	3	2	1	5	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr18:7036079C>T	uc002knm.3	-	12	1840	c.1746G>A	c.(1744-1746)gcG>gcA	p.A582A	LAMA1_uc010wzj.2_Silent_p.A58A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	582	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCCGCCAAACGCAGTCAGCT	0.463													T	7036079	C	T	7036079	2	4	238	1	0	0	0	0	0	0	0	1	8664	523	19	1		1	LAMA1	18	7036079	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	4283577	7036079	71041169	93	16589											
PTBP1	5725	broad.mit.edu	37	chr19	804908	804908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccctgctgcagtatgCggaccccgtgagcgcccagc	6	5	13	17	3	0	1	0	1	0	0	0	2	0	2	5	2	5	3	5	2	1	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:804908C>T	uc002lpr.2	+	6	792	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PTBP1_uc002lps.2_Intron|PTBP1_uc002lpp.2_Missense_Mutation_p.A229V|PTBP1_uc002lpq.2_Missense_Mutation_p.A229V|MIR4745_uc021uly.1_5'Flank	NM_031991	NP_114368	P26599	PTBP1_HUMAN	Homo sapiens polypyrimidine tract binding protein 1 (PTBP1), transcript variant 3, mRNA.	229	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CTGCAGTATGCGGACCCCGTG	0.662													T	804908	C	T	804908	3	4	238	1	0	0	0	0	1	0	0	0	12810	768	27	1	712	1	PTBP1	19	804908	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		804908	58324075	94	16590											
SBNO2	22904	broad.mit.edu	37	chr19	1119057	1119057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgaaggctggggccagcgGgatctcctcgatgcggaagg	7	6	17	11	4	1	0	0	0	1	0	4	4	1	2	2	6	2	1	2	6	2	0			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:1119057G>A	uc002lrk.4	-	13	1718	c.1480C>T	c.(1480-1482)Ccg>Tcg	p.P494S	SBNO2_uc002lrj.4_Missense_Mutation_p.P437S|SBNO2_uc010dse.3_Missense_Mutation_p.P487S|SBNO2_uc010dsf.3_Missense_Mutation_p.P437S	NM_014963	NP_055778	Q9Y2G9	SBNO2_HUMAN	Homo sapiens strawberry notch homolog 2 (Drosophila) (SBNO2), transcript variant 1, mRNA.	494					macrophage activation involved in immune response|negative regulation of transcription, DNA-dependent|regulation of inflammatory response|transcription, DNA-dependent					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		GGGGCCAGCGGGATCTCCTCG	0.657													A	1119057	G	A	1119057	3	1	238	1	0	0	0	0	1	0	0	0	13955	1232	43	2	2696	2	SBNO2	19	1119057	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	314149	1119057	58009926	95	16591											
TLE2	7089	broad.mit.edu	37	chr19	3013710	3013710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcggtgagccaaggctaGaggccaaggaggctggactg	10	4	18	9	1	0	2	0	1	0	1	0	4	0	4	2	6	2	3	2	6	3	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:3013710G>A	uc010dth.3	-	10	1096	c.833C>T	c.(832-834)tCt>tTt	p.S278F	TLE2_uc010xhb.2_5'UTR|TLE2_uc002lww.3_Missense_Mutation_p.S277F|TLE2_uc010xhc.2_Missense_Mutation_p.S155F|TLE2_uc010dti.3_Missense_Mutation_p.S291F|TLE2_uc010xhd.1_Missense_Mutation_p.S185F	NM_003260	NP_003251	Q04725	TLE2_HUMAN	Homo sapiens transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila) (TLE2), transcript variant 1, mRNA.	277	Pro/Ser-rich.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCCAAGGCTAGAGGCCAAGGA	0.642													A	3013710	G	A	3013710	3	1	238	1	0	0	0	0	1	0	0	0	16039	942	33	2	1441	2	TLE2	19	3013710	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	1894653	3013710	56115273	96	16592											
MUC16	94025	broad.mit.edu	37	chr19	8997446	8997446	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctctccgtggtgttgaacTtcctggagccagggtgctgc	4	11	13	13	1	1	1	0	1	1	0	3	2	2	2	4	3	4	2	4	3	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:8997446T>G	uc002mkp.3	-	58	41180	c.40976A>C	c.(40975-40977)aAg>aCg	p.K13659T	MUC16_uc010dwi.3_Non-coding_Transcript|MUC16_uc010dwj.3_Missense_Mutation_p.K476T|MUC16_uc021uog.1_Non-coding_Transcript	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	13661	SEA 11.			Missing (in Ref. 3; AAK74120).	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						GGTGTTGAACTTCCTGGAGCC	0.567													G	8997446	T	G	8997446	3	3	238	1	0	0	0	0	1	0	0	0	10049	1609	56	5	2651	5	MUC16	19	8997446	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	5983736	8997446	50131537	97	16593											
ZNF527	84503	broad.mit.edu	37	chr19	37880558	37880558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatgtggaaaggccttcaGttgtggctcatatcttaatc	11	13	9	8	0	3	0	2	0	1	0	4	1	3	1	1	3	0	2	1	3	4	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:37880558G>A	uc010efk.1	+	4	1718	c.1607G>A	c.(1606-1608)aGt>aAt	p.S536N	ZNF527_uc002ogf.3_Missense_Mutation_p.S504N|ZNF527_uc010xtq.1_Non-coding_Transcript	NM_032453	NP_115829	Q8NB42	ZN527_HUMAN	Homo sapiens zinc finger protein 527 (ZNF527), mRNA.	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	33			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAGGCCTTCAGTTGTGGCTCA	0.398													A	37880558	G	A	37880558	3	1	238	1	0	0	0	0	1	0	0	0	18069	1029	36	2	1621	2	ZNF527	19	37880558	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	28883112	37880558	21248425	98	16594											
ZNF229	7772	broad.mit.edu	37	chr19	44933459	44933459	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaaggtacgagttgtgActgaaacctttgccacactt	10	12	10	9	1	0	3	0	3	0	0	0	4	0	3	2	1	3	3	2	1	3	5			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr19:44933459A>G	uc002oze.1	-	5	1931	c.1497T>C	c.(1495-1497)agT>agC	p.S499S	ZNF229_uc010ejk.1_Silent_p.S153S|ZNF229_uc010ejl.1_Silent_p.S493S	NM_014518	NP_055333	Q9UJW7	ZN229_HUMAN	Homo sapiens zinc finger protein 229 (ZNF229), mRNA.	499					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				ACGAGTTGTGACTGAAACCTT	0.517													G	44933459	A	G	44933459	2	3	238	1	0	0	0	0	0	0	0	1	17883	272	10	3		3	ZNF229	19	44933459	Silent	SNP	A	TCGA-32-4211-01A-01D-1353-08	7052901	44933459	14195524	99	16595											
PRIC285	85441	broad.mit.edu	37	chr20	62198405	62198405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggggtggggcggaaccttgCccctggcgtggatggggttg	3	8	22	8	2	0	0	0	0	0	0	0	2	0	2	3	9	2	1	3	9	1	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr20:62198405C>T	uc002yfm.2	-	6	3198	c.2306G>A	c.(2305-2307)gGc>gAc	p.G769D	PRIC285_uc002yfl.1_Missense_Mutation_p.G200D	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	769					cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGGAACCTTGCCCCTGGCGTG	0.652													T	62198405	C	T	62198405	3	4	238	1	0	0	0	0	1	0	0	0	12571	739	26	2	5699	2	PRIC285	20	62198405	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		62198405	827115	100	16596											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007617	32007617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactactatggtggtctgcGttatggctatggagtcctgg	7	13	13	8	1	1	0	0	0	1	0	2	1	2	1	1	5	3	2	1	5	5	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:32007617G>A	uc011adg.2	+	0	35	c.35G>A	c.(34-36)cGt>cAt	p.R12H		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGTGGTCTGCGTTATGGCTAT	0.522													A	32007617	G	A	32007617	3	1	238	1	0	0	0	0	1	0	0	0	8595	1145	40	1	37	1	KRTAP20-2	21	32007617	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08		32007617	16122278	101	16597											
ICOSLG	23308	broad.mit.edu	37	chr21	45657002	45657002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcactggtttgccaatataCgtaaacatcatttaaatcaa	15	13	4	9	1	3	0	3	0	0	0	3	0	3	0	1	1	3	2	1	1	8	6			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:45657002C>T	uc010gpp.1	-	2	288	c.154G>A	c.(154-156)Gta>Ata	p.V52I	ICOSLG_uc002zef.3_Intron|ICOSLG_uc002zee.3_Missense_Mutation_p.V52I|ICOSLG_uc011afc.2_Intron	NM_015259	NP_056074	O75144	ICOSL_HUMAN	Homo sapiens inducible T-cell co-stimulator ligand (ICOSLG), mRNA.	52	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGCCAATATACGTAAACATCA	0.522													T	45657002	C	T	45657002	3	4	238	1	0	0	0	0	1	0	0	0	7545	536	19	1	774	1	ICOSLG	21	45657002	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08	13649385	45657002	2472893	102	16598											
PCBP3	54039	broad.mit.edu	37	chr21	47355174	47355174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtatacccaggtctggaCgccagcccaccggccagcac	8	6	11	16	2	1	0	0	0	1	0	1	1	1	1	5	4	3	2	5	4	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr21:47355174C>T	uc010gqb.3	+	13	1127	c.864C>T	c.(862-864)gaC>gaT	p.D288D	PCBP3_uc002zhp.2_Silent_p.D268D|PCBP3_uc002zhq.2_Silent_p.D288D|PCBP3_uc002zhs.2_Silent_p.D262D|PCBP3_uc002zht.2_Silent_p.D278D	NM_020528	NP_065389	P57721	PCBP3_HUMAN	Homo sapiens poly(rC) binding protein 3 (PCBP3), transcript variant 1, mRNA.	288					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGTCTGGACGCCAGCCCAC	0.577													T	47355174	C	T	47355174	2	4	238	1	0	0	0	0	0	0	0	1	11578	535	19	1		1	PCBP3	21	47355174	Silent	SNP	C	TCGA-32-4211-01A-01D-1353-08	1698172	47355174	774721	103	16599											
RFPL2	10739	broad.mit.edu	37	chr22	32586778	32586778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatttggcctccccaggaCggactggagcatcagtagtg	8	10	12	11	1	1	0	1	0	0	0	2	3	2	3	3	4	1	2	3	4	2	3			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32586778C>T	uc003amg.3	-	4	2054	c.1118G>A	c.(1117-1119)cGt>cAt	p.R373H	RFPL2_uc003ame.3_Missense_Mutation_p.R312H|RFPL2_uc003amf.3_Missense_Mutation_p.R283H|RFPL2_uc003amh.3_Missense_Mutation_p.R283H	NM_001098527	NP_001153018	O75678	RFPL2_HUMAN	Homo sapiens ret finger protein-like 2 (RFPL2), transcript variant 2, mRNA.	373							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						CTCCCCAGGACGGACTGGAGC	0.463													T	32586778	C	T	32586778	3	4	238	1	0	0	0	0	1	0	0	0	13342	536	19	1	22	1	RFPL2	22	32586778	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		32586778	18717788	104	16600											
RFPL3	10738	broad.mit.edu	37	chr22	32756800	32756800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactactgatgctccagtccGtcctggggaggccaaataag	10	8	11	12	1	0	1	0	1	0	0	3	2	3	2	4	3	2	1	4	3	3	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chr22:32756800G>A	uc003amj.3	+	1	1140	c.935G>A	c.(934-936)cGt>cAt	p.R312H	RFPL3_uc010gwn.3_Missense_Mutation_p.R283H|RFPL3-AS1_uc003amk.3_Non-coding_Transcript|RFPL3-AS1_uc003aml.3_Non-coding_Transcript	NM_001098535	NP_006595	O75679	RFPL3_HUMAN	Homo sapiens ret finger protein-like 3 (RFPL3), transcript variant 1, mRNA.	312							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GCTCCAGTCCGTCCTGGGGAG	0.458													A	32756800	G	A	32756800	3	1	238	1	0	0	0	0	1	0	0	0	13343	1145	40	1	941	1	RFPL3	22	32756800	Missense_Mutation	SNP	G	TCGA-32-4211-01A-01D-1353-08	170022	32756800	18547766	105	16601											
WNK3	65267	broad.mit.edu	37	chrX	54275317	54275317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacttctgtcactggaCaggagagggtatcttcagca	10	11	11	9	0	4	2	2	1	2	1	4	4	4	3	0	3	1	2	0	3	2	4			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:54275317C>A	uc004dtc.2	-	16	3903	c.3464G>T	c.(3463-3465)tGt>tTt	p.C1155F	WNK3_uc004dtd.2_Missense_Mutation_p.C1155F	NM_020922	NP_065973	Q9BYP7	WNK3_HUMAN	Homo sapiens WNK lysine deficient protein kinase 3 (WNK3), transcript variant 1, mRNA.	1155					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTCACTGGACAGGAGAGGGT	0.458													A	54275317	C	A	54275317	3	1	238	1	0	0	0	0	1	0	0	0	17481	478	17	4	1970	4	WNK3	23	54275317	Missense_Mutation	SNP	C	TCGA-32-4211-01A-01D-1353-08		54275317	100995243	106	16602											
SPIN3	169981	broad.mit.edu	37	chrX	57021377	57021377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttccaaacggggtctTcatgcctgcgaagaggagca	9	9	12	11	2	2	1	1	0	1	1	3	3	3	2	3	3	5	1	3	3	2	2			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:57021377T>G	uc022bxv.1	-	0	4	c.4A>C	c.(4-6)Aag>Cag	p.K2Q	SPIN3_uc004duu.4_Non-coding_Transcript|SPIN3_uc004duw.4_Non-coding_Transcript|SPIN3_uc004duv.4_Non-coding_Transcript|SPIN3_uc010nkj.2_Missense_Mutation_p.K2Q|SPIN3_uc004dux.1_Missense_Mutation_p.K2Q	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	2					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						AACGGGGTCTTCATGCCTGCG	0.537													G	57021377	T	G	57021377	3	3	238	1	0	0	0	0	1	0	0	0	15151	1792	62	5	776	5	SPIN3	23	57021377	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	2746060	57021377	98249183	107	16603											
TAF1	6872	broad.mit.edu	37	chrX	70680548	70680548	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacccaaacaaccccgcaTgcttcaggagaacacaagga	17	3	8	13	1	1	2	1	0	0	2	1	4	1	3	3	2	4	2	3	2	5	1			TCGA-32-4211-01A-01D-1353-08	TCGA-32-4211-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	08014470-8cdc-4431-baee-a06009d4cf3a	939f2072-4045-46d3-a164-a6ea49da87b7	g.chrX:70680548T>G	uc004dzu.4	+	36	5342	c.5291T>G	c.(5290-5292)aTg>aGg	p.M1764R	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Missense_Mutation_p.M1785R|TAF1_uc004dzv.4_Missense_Mutation_p.M972R|TAF1_uc010nle.1_Non-coding_Transcript|TAF1_uc010nlf.1_Missense_Mutation_p.M189R|TAF1_uc004dzx.2_Non-coding_Transcript|TAF1_uc004dzy.2_Non-coding_Transcript|TAF1_uc004dzw.1_Non-coding_Transcript|TAF1_uc010nlg.1_Non-coding_Transcript	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1764	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CAACCCCGCATGCTTCAGGAG	0.483													G	70680548	T	G	70680548	3	3	238	1	0	0	0	0	1	0	0	0	15610	1464	51	5	5500	5	TAF1	23	70680548	Missense_Mutation	SNP	T	TCGA-32-4211-01A-01D-1353-08	13659171	70680548	84590012	108	16604											
CHD5	26038	broad.mit.edu	37	chr1	6171855	6171855	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcacgatgcccgccagcagCcagtagtcatggcgccggtg	7	6	14	14	4	2	0	2	0	0	0	2	1	2	0	4	2	3	2	4	2	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:6171855C>T	uc001amb.2	-	35	5340	c.5229G>A	c.(5227-5229)tgG>tgA	p.W1743*	CHD5_uc001alz.2_Nonsense_Mutation_p.W600*|CHD5_uc001ama.2_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1743					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CCGCCAGCAGCCAGTAGTCAT	0.637													T	6171855	C	T	6171855	4	4	239	1	0	0	0	0	0	1	0	0	3358	740	26	2	659	2	CHD5	1	6171855	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		6171855	243078766	1	16605											
CDA	978	broad.mit.edu	37	chr1	20944973	20944973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caactggcccgtgtacatgaCcaagccggatggtacgtata	11	8	11	11	3	0	1	0	1	0	0	0	2	0	2	3	3	4	3	3	3	6	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:20944973C>T	uc001bdk.3	+	3	532	c.353C>T	c.(352-354)aCc>aTc	p.T118I	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	118					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GTGTACATGACCAAGCCGGAT	0.582													T	20944973	C	T	20944973	3	4	239	1	0	0	0	0	1	0	0	0	3082	507	18	2	367	2	CDA	1	20944973	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	14773118	20944973	228305648	2	16606											
HNRNPR	10236	broad.mit.edu	37	chr1	23660032	23660032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgttccaattccaggttgCacgccagagtacacactgtc	9	10	8	14	2	0	1	0	0	0	1	4	1	3	1	4	1	2	4	4	1	2	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:23660032C>T	uc001bgr.4	-	4	636	c.477G>A	c.(475-477)gtG>gtA	p.V159V	HNRNPR_uc010odw.2_Intron|HNRNPR_uc009vql.3_Intron|HNRNPR_uc001bgp.4_Silent_p.V159V|HNRNPR_uc001bgs.4_Silent_p.V58V|HNRNPR_uc009vqk.3_Silent_p.V58V|HNRNPR_uc010odx.2_Silent_p.V58V	NM_005826	NP_001095867	O43390	HNRPR_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein R (HNRNPR), transcript variant 2, mRNA.	159						catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		TTCCAGGTTGCACGCCAGAGT	0.453													T	23660032	C	T	23660032	2	4	239	1	0	0	0	0	0	0	0	1	7327	697	25	2		2	HNRNPR	1	23660032	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	2715059	23660032	225590589	3	16607											
TXNIP	10628	broad.mit.edu	37	chr1	145439907	145439907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagtggatctggtggatgtCaatacccctgatttaatggt	9	14	12	6	0	2	1	1	1	1	0	2	3	2	3	2	4	1	1	2	4	4	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:145439907C>T	uc001enn.4	+	2	794	c.453C>T	c.(451-453)gtC>gtT	p.V151V	TXNIP_uc010oys.2_Silent_p.V96V	NM_006472	NP_006463	Q9H3M7	TXNIP_HUMAN	Homo sapiens thioredoxin interacting protein (TXNIP), mRNA.	151					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGTGGATGTCAATACCCCTG	0.433													T	145439907	C	T	145439907	2	4	239	1	0	0	0	0	0	0	0	1	16905	813	29	2		2	TXNIP	1	145439907	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	121779875	145439907	103810714	4	16608											
RXFP4	339403	broad.mit.edu	37	chr1	155911855	155911855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctgcaagatggttctgAcggccactgtcctcaacgtc	7	10	9	15	2	3	2	1	1	2	1	5	2	4	2	3	2	2	2	3	2	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:155911855A>C	uc010pgs.2	+	0	376	c.355A>C	c.(355-357)Acg>Ccg	p.T119P		NM_181885	NP_871001	Q8TDU9	RL3R2_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 4 (RXFP4), mRNA.	119						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GATGGTTCTGACGGCCACTGT	0.632													C	155911855	A	C	155911855	3	2	239	1	0	0	0	0	1	0	0	0	13853	275	10	5	357	5	RXFP4	1	155911855	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	10471948	155911855	93338766	5	16609											
NME7	29922	broad.mit.edu	37	chr1	169256604	169256604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaaatttagcagtgtttgCcggcccacaacctccacttg	10	11	8	12	1	0	0	0	0	0	0	1	0	1	0	4	1	3	3	4	1	4	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:169256604C>T	uc001gfu.3	-	6	929	c.691G>A	c.(691-693)Gca>Aca	p.A231T	NME7_uc001gft.3_Missense_Mutation_p.A195T|NME7_uc010plq.2_Non-coding_Transcript|NME7_uc001gfv.1_Missense_Mutation_p.A231T	NM_013330	NP_932076	Q9Y5B8	NDK7_HUMAN	Homo sapiens non-metastatic cells 7, protein expressed in (nucleoside-diphosphate kinase) (NME7), transcript variant 1, mRNA.	231					CTP biosynthetic process|GTP biosynthetic process|UTP biosynthetic process	centrosome	ATP binding|metal ion binding|nucleoside diphosphate kinase activity	p.A231T(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(8)|skin(1)	16	all_hematologic(923;0.208)					GCAGTGTTTGCCGGCCCACAA	0.358													T	169256604	C	T	169256604	3	4	239	1	0	0	0	0	1	0	0	0	10572	739	26	2	463	2	NME7	1	169256604	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	13344749	169256604	79994017	6	16610											
IGFN1	91156	broad.mit.edu	37	chr1	201182608	201182608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaatgaagatcagagcCgggagccccctggtcacctt	9	8	12	12	1	2	4	2	2	0	2	2	5	2	5	4	2	3	1	4	2	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:201182608C>T	uc001gwc.3	+	11	8717	c.8587C>T	c.(8587-8589)Cgg>Tgg	p.R2863W	IGFN1_uc001gwb.3_Intron	NM_001164586	NP_001158058			Homo sapiens immunoglobulin-like and fibronectin type III domain containing 1 (IGFN1), mRNA.											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGATCAGAGCCGGGAGCCCCC	0.582													T	201182608	C	T	201182608	3	4	239	1	0	0	0	0	1	0	0	0	7648	643	23	1	8629	1	IGFN1	1	201182608	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	31926004	201182608	48068013	7	16611											
KDM5B	10765	broad.mit.edu	37	chr1	202722182	202722182	+	Frame_Shift_Del	DEL	T	T	-																															ccctgggactccataccaggTttttggctcacccctggaaa																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr1:202722182delT	uc009xag.3	-	12	1776	c.1660delA	c.(1660-1662)accfs	p.T554fs	KDM5B_uc001gyf.3_Frame_Shift_Del_p.T518fs|KDM5B_uc001gyg.1_Frame_Shift_Del_p.T360fs	NM_006618	NP_006609	Q9UGL1	KDM5B_HUMAN	Homo sapiens lysine (K)-specific demethylase 5B (KDM5B), mRNA.	518	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCATACCAGGTTTTTGGCTCA	0.423													-	202722182	T	-	202722182	7	5	239	1	0	1	0	1	0	0	0	0	8192	1725	60	0	3146	0	KDM5B	1	202722182	Frame_Shift_Del	DEL	T	TCGA-32-4213-01A-01D-1353-08	1539574	202722182	46528439	8	16612											
TIA1	7072	broad.mit.edu	37	chr2	70457951	70457951	+	Frame_Shift_Del	DEL	A	A	-																															gctgcatgacgatgctcatgAaactccacaaaacaataggg																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:70457951delA	uc002sgj.4	-	2	376	c.159delT	c.(157-159)tttfs	p.F53fs	TIA1_uc002sgk.4_Frame_Shift_Del_p.F53fs|TIA1_uc002sgl.4_Non-coding_Transcript|TIA1_uc002sgm.3_Frame_Shift_Del_p.F53fs|TIA1_uc010yqt.2_Frame_Shift_Del_p.F53fs	NM_022173	NP_071505	P31483	TIA1_HUMAN	Homo sapiens TIA1 cytotoxic granule-associated RNA binding protein (TIA1), transcript variant 2, mRNA.	53	RRM 1.				apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GATGCTCATGAAACTCCACAA	0.398													-	70457951	A	-	70457951	7	5	239	1	0	1	0	1	0	0	0	0	15987	243	9	0	1045	0	TIA1	2	70457951	Frame_Shift_Del	DEL	A	TCGA-32-4213-01A-01D-1353-08		70457951	172741422	9	16613											
YSK4	80122	broad.mit.edu	37	chr2	135738775	135738775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatgtaccacacagttcTcatggagataagcaacacct	13	8	8	12	2	1	1	1	0	1	1	2	3	1	1	2	1	3	3	2	1	3	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:135738775T>C	uc002tue.1	-	8	3567	c.3536A>G	c.(3535-3537)gAg>gGg	p.E1179G	YSK4_uc002tuf.1_Missense_Mutation_p.E361G|YSK4_uc010fnc.1_Missense_Mutation_p.E313G|YSK4_uc010fnd.1_Missense_Mutation_p.E1066G|YSK4_uc010zbg.1_Missense_Mutation_p.E311G|YSK4_uc021vpz.1_Missense_Mutation_p.E40G|YSK4_uc002tuh.4_Missense_Mutation_p.E907G|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1179	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		CACACAGTTCTCATGGAGATA	0.413													C	135738775	T	C	135738775	3	2	239	1	0	0	0	0	1	0	0	0	17597	1551	54	3	458	3	YSK4	2	135738775	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	65280824	135738775	107460598	10	16614											
TTN	7273	broad.mit.edu	37	chr2	179413171	179413171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgataacctgccaactaCggcgacttgcctctcgtttc	8	11	7	15	3	1	1	0	1	1	0	3	2	1	1	3	1	5	1	3	1	3	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:179413171C>T	uc021vsy.1	-	287	85703	c.85478G>A	c.(85477-85479)cGt>cAt	p.R28493H	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R22188H|TTN_uc021vta.1_Missense_Mutation_p.R22121H|TTN_uc021vtb.1_Missense_Mutation_p.R21996H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	29420	Ig-like 132.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCCAACTACGGCGACTTGC	0.498													T	179413171	C	T	179413171	3	4	239	1	0	0	0	0	1	0	0	0	16837	536	19	1	14893	1	TTN	2	179413171	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	43674396	179413171	63786202	11	16615											
SPAG16	79582	broad.mit.edu	37	chr2	214204919	214204919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatttgctgaaaattcagaAagaacgtgattttcatcgaa	16	12	8	5	2	2	5	2	2	0	3	3	6	2	5	0	0	2	1	0	0	5	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:214204919A>G	uc002veq.3	+	5	661	c.569A>G	c.(568-570)aAa>aGa	p.K190R	SPAG16_uc010fuz.2_Missense_Mutation_p.K41R|SPAG16_uc002ver.3_Missense_Mutation_p.K136R|SPAG16_uc010zjk.2_Missense_Mutation_p.K96R|SPAG16_uc002ves.1_Missense_Mutation_p.K159R	NM_024532	NP_078808	Q8N0X2	SPG16_HUMAN	Homo sapiens sperm associated antigen 16 (SPAG16), transcript variant 1, mRNA.	190					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		AAAATTCAGAAAGAACGTGAT	0.294													G	214204919	A	G	214204919	3	3	239	1	0	0	0	0	1	0	0	0	15074	14	1	3	607	3	SPAG16	2	214204919	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	34791748	214204919	28994454	12	16616											
FN1	2335	broad.mit.edu	37	chr2	216300455	216300455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctcttcgaggctcccGtggagggcaccgctgtcccc	3	10	12	16	3	2	0	0	0	2	0	5	2	4	1	4	3	1	4	4	3	0	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:216300455G>A	uc002vfa.3	-	0	337	c.71C>T	c.(70-72)aCg>aTg	p.T24M	FN1_uc002vfc.3_Missense_Mutation_p.T24M|FN1_uc002vfe.3_Missense_Mutation_p.T24M|FN1_uc002vff.3_Missense_Mutation_p.T24M|FN1_uc002vfg.3_Missense_Mutation_p.T24M|FN1_uc002vfh.3_Missense_Mutation_p.T24M|FN1_uc002vfi.3_Missense_Mutation_p.T24M|FN1_uc002vfj.3_Missense_Mutation_p.T24M|FN1_uc002vfb.3_Missense_Mutation_p.T24M|FN1_uc002vfl.3_Missense_Mutation_p.T24M	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	24					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGAGGCTCCCGTGGAGGGCAC	0.667													A	216300455	G	A	216300455	3	1	239	1	0	0	0	0	1	0	0	0	6011	1145	40	1	7579	1	FN1	2	216300455	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	2095536	216300455	26898918	13	16617											
FAM134A	79137	broad.mit.edu	37	chr2	220046155	220046155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagagacagagagtgaaagCgaggcagagctggctggctt	12	5	17	7	1	0	4	0	1	0	3	0	7	0	4	0	3	2	5	0	3	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:220046155C>T	uc002vjw.4	+	6	985	c.849C>T	c.(847-849)agC>agT	p.S283S	FAM134A_uc010fwc.3_Silent_p.S76S|FAM134A_uc002vjx.3_Silent_p.S76S	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	283						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAGTGAAAGCGAGGCAGAGC	0.542													T	220046155	C	T	220046155	2	4	239	1	0	0	0	0	0	0	0	1	5490	767	27	1		1	FAM134A	2	220046155	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	3745700	220046155	23153218	14	16618											
SP100	6672	broad.mit.edu	37	chr2	231406616	231406616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttactcaacagaacagagagGggtctcagggcccacagaag	14	5	12	10	0	2	3	2	0	1	3	3	4	2	3	1	3	3	0	1	3	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:231406616G>A	uc002vqu.1	+	27	2554	c.2413G>A	c.(2413-2415)Ggg>Agg	p.G805R	SP100_uc010fxp.1_Missense_Mutation_p.G123R	NM_001080391	NP_001073860	P23497	SP100_HUMAN	Homo sapiens SP100 nuclear antigen (SP100), transcript variant 1, mRNA.	0					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAACAGAGAGGGGTCTCAGGG	0.478													A	231406616	G	A	231406616	3	1	239	1	0	0	0	0	1	0	0	0	15054	1232	43	2	3073	2	SP100	2	231406616	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	11360461	231406616	11792757	15	16619											
HDAC4	9759	broad.mit.edu	37	chr2	240002804	240002804	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctcacctgaaggccgccaAgtactcagcgtctcccatgg	8	7	11	15	2	3	1	2	1	1	0	4	1	3	1	4	3	2	2	4	3	3	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr2:240002804A>G	uc002vyk.4	-	21	3514	c.2722T>C	c.(2722-2724)Ttg>Ctg	p.L908L	HDAC4_uc010fyy.3_Silent_p.L865L	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	908	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AAGGCCGCCAAGTACTCAGCG	0.602													G	240002804	A	G	240002804	2	3	239	1	0	0	0	0	0	0	0	1	7064	69	3	3		3	HDAC4	2	240002804	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	8596188	240002804	3196569	16	16620											
CHRD	8646	broad.mit.edu	37	chr3	184099068	184099068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggcagggtcagctgcAagaacatcaaaccagagtgc	12	5	12	12	0	2	2	2	0	0	2	2	2	2	2	2	2	5	3	2	2	3	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr3:184099068A>G	uc003fov.3	+	2	544	c.298A>G	c.(298-300)Aag>Gag	p.K100E	CHRD_uc003fow.3_5'UTR|CHRD_uc003fox.3_Missense_Mutation_p.K100E|CHRD_uc003foy.3_5'UTR|CHRD_uc010hyc.3_5'UTR|CHRD_uc011brr.2_5'Flank	NM_003741	NP_003732	Q9H2X0	CHRD_HUMAN	Homo sapiens chordin (CHRD), mRNA.	100	VWFC 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGTCAGCTGCAAGAACATCAA	0.647													G	184099068	A	G	184099068	3	3	239	1	0	0	0	0	1	0	0	0	3402	131	5	3	308	3	CHRD	3	184099068	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08		184099068	13923362	17	16621											
RASSF6	166824	broad.mit.edu	37	chr4	74464408	74464408	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcataaaaaatgttataGgtcttcaataaagaattaag	18	14	5	4	0	3	1	2	0	2	1	4	1	3	1	0	1	0	1	0	1	10	7			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:74464408G>T	uc003hhd.1	-	2	312	c.189C>A	c.(187-189)acC>acA	p.T63T	RASSF6_uc003hhc.1_Silent_p.T31T|RASSF6_uc010iik.1_Silent_p.T31T|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	63					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			AAATGTTATAGGTCTTCAATA	0.303													T	74464408	G	T	74464408	2	4	239	1	0	0	0	0	0	0	0	1	13178	987	35	4		4	RASSF6	4	74464408	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		74464408	116689868	18	16622											
EGF	1950	broad.mit.edu	37	chr4	110882086	110882086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtaaaaacacccctggatCctattactgcacgtgccctg	10	10	8	13	1	0	0	0	0	0	0	1	1	1	1	4	1	4	2	4	1	5	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr4:110882086C>A	uc003hzy.4	+	6	1582	c.1130C>A	c.(1129-1131)tCc>tAc	p.S377Y	EGF_uc011cfu.2_Missense_Mutation_p.S335Y|EGF_uc011cfv.2_Missense_Mutation_p.S377Y	NM_001963	NP_001954	P01133	EGF_HUMAN	Homo sapiens epidermal growth factor (EGF), transcript variant 1, mRNA.	377	EGF-like 2; calcium-binding (Potential).				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	ACCCCTGGATCCTATTACTGC	0.398													A	110882086	C	A	110882086	3	1	239	1	0	0	0	0	1	0	0	0	5001	855	30	4	1156	4	EGF	4	110882086	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	36417678	110882086	80272190	19	16623											
DNAH5	1767	broad.mit.edu	37	chr5	13883072	13883072	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggacactgatgatgcactCcacggctttgttcagggtct	8	11	12	10	1	2	2	1	2	1	0	3	3	3	3	1	3	1	3	1	3	0	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:13883072C>A	uc003jfd.2	-	19	3157	c.3115G>T	c.(3115-3117)Gag>Tag	p.E1039*		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	1039	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATGATGCACTCCACGGCTTTG	0.537									Kartagener syndrome				A	13883072	C	A	13883072	4	1	239	1	0	0	0	0	0	1	0	0	4643	864	30	4	10999	4	DNAH5	5	13883072	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		13883072	167032188	20	16624											
AP3B1	8546	broad.mit.edu	37	chr5	77473219	77473219	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatgccagcttcagatttTggtgatatgtgccaatacag	11	14	9	7	0	1	2	1	1	0	1	1	2	1	2	2	1	4	1	2	1	4	6			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:77473219T>G	uc003kfj.3	-	8	1109	c.984A>C	c.(982-984)ccA>ccC	p.P328P		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	328					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CTTCAGATTTTGGTGATATGT	0.348									Hermansky-Pudlak syndrome				G	77473219	T	G	77473219	2	3	239	1	0	0	0	0	0	0	0	1	746	1799	63	5		5	AP3B1	5	77473219	Silent	SNP	T	TCGA-32-4213-01A-01D-1353-08	63590147	77473219	103442041	21	16625											
GABRG2	2566	broad.mit.edu	37	chr5	161524689	161524689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaacgtggtatgacagaCgtttgaaatttaacagcacc	14	9	9	9	3	0	3	0	2	0	1	0	3	0	3	1	1	3	4	1	1	4	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr5:161524689C>T	uc010jjc.3	+	3	731	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	GABRG2_uc003lyy.4_Missense_Mutation_p.R125C|GABRG2_uc003lyz.4_Missense_Mutation_p.R125C|GABRG2_uc011dej.2_Missense_Mutation_p.R30C	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	125					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.R125C(2)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		GTATGACAGACGTTTGAAATT	0.328													T	161524689	C	T	161524689	3	4	239	1	0	0	0	0	1	0	0	0	6224	536	19	1	387	1	GABRG2	5	161524689	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	84051470	161524689	19390571	22	16626											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410459	32410459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgctccaactatactcCgatcaccaatggtacctccc	12	8	5	16	2	1	0	1	0	0	0	4	1	4	0	5	1	4	2	5	1	6	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:32410459C>T	uc003obh.3	+	1	426	c.317C>T	c.(316-318)cCg>cTg	p.P106L	HLA-DRA_uc003obi.3_Missense_Mutation_p.P106L	NM_019111	NP_061984	P01903	DRA_HUMAN	Homo sapiens major histocompatibility complex, class II, DR alpha (HLA-DRA), mRNA.	106	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AACTATACTCCGATCACCAAT	0.463									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				T	32410459	C	T	32410459	3	4	239	1	0	0	0	0	1	0	0	0	7262	652	23	1	323	1	HLA-DRA	6	32410459	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		32410459	138704608	23	16627											
DNAH8	1769	broad.mit.edu	37	chr6	38773311	38773311	+	Frame_Shift_Del	DEL	A	A	-																															aggagagggtgaaaacaatgActatgaagctaatattgtga																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:38773311delA	uc021yzh.1	+	22	3198	c.3089delA	c.(3088-3090)gacfs	p.D1030fs	DNAH8_uc003ooe.2_Frame_Shift_Del_p.D813fs	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.									p.P1030T(2)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAACAATGACTATGAAGCT	0.308													-	38773311	A	-	38773311	7	5	239	1	0	1	0	1	0	0	0	0	4646	275	10	0	2512	0	DNAH8	6	38773311	Frame_Shift_Del	DEL	A	TCGA-32-4213-01A-01D-1353-08	6362852	38773311	132341756	24	16628											
HEY2	23493	broad.mit.edu	37	chr6	126080811	126080811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccatgcttcccccaaacGcagcagcagcagtggccgcg	8	5	10	18	3	0	0	0	0	0	0	2	0	2	0	5	1	5	5	5	1	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr6:126080811G>A	uc003qad.3	+	4	1068	c.877G>A	c.(877-879)Gca>Aca	p.A293T	HEY2_uc011ebr.2_Missense_Mutation_p.A247T	NM_012259	NP_036391	Q9UBP5	HEY2_HUMAN	Homo sapiens hairy/enhancer-of-split related with YRPW motif 2 (HEY2), mRNA.	293	Ala-rich.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		TCCCCCAAACGCAGCAGCAGC	0.647													A	126080811	G	A	126080811	3	1	239	1	0	0	0	0	1	0	0	0	7134	1087	38	1	895	1	HEY2	6	126080811	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	87307500	126080811	45034256	25	16629											
USP42	84132	broad.mit.edu	37	chr7	6189851	6189851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaaagaaaacggcctagCgcctgatggtgccagctgcc	10	5	12	14	3	0	2	0	1	0	1	0	3	0	2	5	2	5	1	5	2	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:6189851C>T	uc011jwo.1	+	12	2147	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	USP42_uc010kth.1_Missense_Mutation_p.A608V|USP42_uc011jwp.2_Missense_Mutation_p.A675V|USP42_uc011jwq.2_Missense_Mutation_p.A482V|USP42_uc011jwr.1_Missense_Mutation_p.A520V	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	675					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity	p.A675V(1)|p.A803V(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACGGCCTAGCGCCTGATGGT	0.562													T	6189851	C	T	6189851	3	4	239	1	0	0	0	0	1	0	0	0	17175	768	27	1	2070	1	USP42	7	6189851	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		6189851	152948812	26	16630											
ZNF479	90827	broad.mit.edu	37	chr7	57194352	57194352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctctatataaattcCgctgagcacaatccaggcat	13	11	5	12	1	2	1	1	1	1	0	5	1	4	1	2	1	1	3	2	1	5	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:57194352C>T	uc010kzo.3	-	2	384	c.113G>A	c.(112-114)cGg>cAg	p.R38Q		NM_033273	NP_150376	Q96JC4	ZN479_HUMAN	Homo sapiens zinc finger protein 479 (ZNF479), mRNA.	38	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			ATATAAATTCCGCTGAGCACA	0.398													T	57194352	C	T	57194352	3	4	239	1	0	0	0	0	1	0	0	0	18034	652	23	1	1473	1	ZNF479	7	57194352	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	51004501	57194352	101944311	27	16631											
WBSCR17	64409	broad.mit.edu	37	chr7	70597882	70597882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagtgccggcccatcGcggtgcgcagcggagacgcc	6	4	16	15	6	0	1	0	0	0	1	1	2	0	1	4	4	3	1	4	4	1	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:70597882G>A	uc003tvy.3	+	0	94	c.94G>A	c.(94-96)Gcg>Acg	p.A32T		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	32						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCGGCCCATCGCGGTGCGCAG	0.637													A	70597882	G	A	70597882	3	1	239	1	0	0	0	0	1	0	0	0	17366	1087	38	1	96	1	WBSCR17	7	70597882	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	13403530	70597882	88540781	28	16632											
MUC17	140453	broad.mit.edu	37	chr7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccagcatgCcaacctcaactcctagtgaa	12	8	8	13	0	1	2	1	2	0	0	2	2	2	2	4	1	6	3	4	1	6	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:100684511C>T	uc003uxp.1	+	2	9867	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3272	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)					TACCAGCATGCCAACCTCAAC	0.502													T	100684511	C	T	100684511	3	4	239	1	0	0	0	0	1	0	0	0	10050	739	26	2	9824	2	MUC17	7	100684511	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	30086629	100684511	58454152	29	16633											
FOXP2	93986	broad.mit.edu	37	chr7	114303551	114303551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccagtttaggctatggaGcagctcttaatgccagtttg	9	13	10	9	0	1	0	0	0	1	0	1	1	1	1	2	2	4	5	2	2	4	6			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:114303551G>A	uc003vhb.3	+	14	2190	c.1816G>A	c.(1816-1818)Gca>Aca	p.A606T	FOXP2_uc003vgu.3_Non-coding_Transcript|FOXP2_uc003vgz.3_Missense_Mutation_p.A631T|FOXP2_uc003vha.3_Missense_Mutation_p.A514T|FOXP2_uc011kmv.2_Missense_Mutation_p.A605T|FOXP2_uc011kmu.2_Missense_Mutation_p.A623T|FOXP2_uc010ljz.2_Missense_Mutation_p.A421T|FOXP2_uc003vhe.1_Missense_Mutation_p.A176T	NM_014491	NP_055306	O15409	FOXP2_HUMAN	Homo sapiens forkhead box P2 (FOXP2), transcript variant 1, mRNA.	606					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						AGGCTATGGAGCAGCTCTTAA	0.303													A	114303551	G	A	114303551	3	1	239	1	0	0	0	0	1	0	0	0	6078	971	34	2	2037	2	FOXP2	7	114303551	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	13619040	114303551	44835112	30	16634											
TMEM209	84928	broad.mit.edu	37	chr7	129843871	129843871	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtccccaggctaagaccActttcctagcctctgtttct	7	12	8	14	0	2	1	0	0	2	1	4	2	4	2	5	2	1	2	5	2	2	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:129843871A>C	uc003vpn.2	-	1	206	c.83T>G	c.(82-84)gTg>gGg	p.V28G	TMEM209_uc010lmc.1_Missense_Mutation_p.V28G|TMEM209_uc003vpo.2_Missense_Mutation_p.V28G	NM_032842	NP_116231	Q96SK2	TM209_HUMAN	Homo sapiens transmembrane protein 209 (TMEM209), mRNA.	28						integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GGCTAAGACCACTTTCCTAGC	0.408													C	129843871	A	C	129843871	3	2	239	1	0	0	0	0	1	0	0	0	16234	159	6	5	1658	5	TMEM209	7	129843871	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	15540320	129843871	29294792	31	16635											
TAS2R5	54429	broad.mit.edu	37	chr7	141490298	141490298	+	Frame_Shift_Del	DEL	T	T	-																															caactggtcctcatataaccTcattatcctgggcctggctg																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr7:141490298delT	uc003vwr.1	+	0	282	c.137delT	c.(136-138)ctcfs	p.L46fs		NM_018980	NP_061853	Q9NYW4	TA2R5_HUMAN	Homo sapiens taste receptor, type 2, member 5 (TAS2R5), mRNA.	46					chemosensory behavior|sensory perception of taste		taste receptor activity	p.L46V(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					TCATATAACCTCATTATCCTG	0.468													-	141490298	T	-	141490298	7	5	239	1	0	1	0	1	0	0	0	0	15680	1551	54	0	139	0	TAS2R5	7	141490298	Frame_Shift_Del	DEL	T	TCGA-32-4213-01A-01D-1353-08	11646427	141490298	17648365	32	16636											
EPHX2	2053	broad.mit.edu	37	chr8	27362585	27362585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacttcctgatagagtcGtgtcaggtgggaatggtcaa	9	13	13	6	1	2	3	2	2	0	1	4	4	3	4	1	3	0	0	1	3	3	3	rs146337543		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:27362585G>A	uc003xfu.3	+	3	540	c.459G>A	c.(457-459)tcG>tcA	p.S153S	EPHX2_uc010lut.1_Silent_p.S153S|EPHX2_uc010luv.3_Silent_p.S87S|EPHX2_uc003xfv.3_Silent_p.S100S|EPHX2_uc010luw.3_Silent_p.S87S|EPHX2_uc011lam.1_Silent_p.S9S	NM_001979	NP_001970	P34913	HYES_HUMAN	Homo sapiens epoxide hydrolase 2, cytoplasmic (EPHX2), mRNA.	153	Phosphatase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TGATAGAGTCGTGTCAGGTGG	0.547													A	27362585	G	A	27362585	2	1	239	1	0	0	0	0	0	0	0	1	5221	1132	40	1		1	EPHX2	8	27362585	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		27362585	119001437	33	16637											
SLC7A13	157724	broad.mit.edu	37	chr8	87229698	87229698	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaattagaaatccaattttaCcttataaggtatagatagat	17	14	6	4	0	0	3	0	0	0	3	1	4	1	3	2	1	1	1	2	1	10	8	rs139960114		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr8:87229698C>T	uc003ydq.1	-	3	1277	c.1179_splice	c.e3+1	p.K393_splice	SLC7A13_uc003ydr.1_Splice_Site_p.K384_splice	NM_138817	NP_620172	Q8TCU3	S7A13_HUMAN	Homo sapiens solute carrier family 7 (anionic amino acid transporter), member 13 (SLC7A13), mRNA.	393						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TCCAATTTTACCTTATAAGGT	0.289													T	87229698	C	T	87229698	5	4	239	1	0	0	0	0	0	0	1	0	14789	521	18	2	240	2	SLC7A13	8	87229698	Splice_Site	SNP	C	TCGA-32-4213-01A-01D-1353-08	59867113	87229698	59134324	34	16638											
DOCK8	81704	broad.mit.edu	37	chr9	441311	441311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatatgagacagttaatgAggtctacaagctggtcatcc	12	12	9	8	0	2	2	1	2	1	1	3	3	3	2	1	2	2	2	1	2	5	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:441311A>G	uc003zgf.2	+	40	5361	c.5249A>G	c.(5248-5250)gAg>gGg	p.E1750G	DOCK8_uc022bcu.1_Missense_Mutation_p.E1682G|DOCK8_uc010mgv.3_Missense_Mutation_p.E1650G|DOCK8_uc010mgu.3_Missense_Mutation_p.E1052G|DOCK8_uc003zgk.2_Missense_Mutation_p.E1208G	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1750	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACAGTTAATGAGGTCTACAAG	0.473													G	441311	A	G	441311	3	3	239	1	0	0	0	0	1	0	0	0	4732	304	11	3	5411	3	DOCK8	9	441311	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08		441311	140772120	35	16639											
UNC13B	10497	broad.mit.edu	37	chr9	35396552	35396552	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggctccacaatgaataCgtgcgggatctgcctgtcct	9	10	11	11	2	1	1	0	1	1	0	3	2	3	2	3	2	3	1	3	2	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:35396552C>A	uc003zwr.3	+	25	3433	c.3141C>A	c.(3139-3141)taC>taA	p.Y1047*	UNC13B_uc003zwq.3_Nonsense_Mutation_p.Y1047*	NM_006377	NP_006368	O14795	UN13B_HUMAN	Homo sapiens unc-13 homolog B (C. elegans) (UNC13B), mRNA.	1047	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.Y1047C(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			ACAATGAATACGTGCGGGATC	0.552													A	35396552	C	A	35396552	4	1	239	1	0	0	0	0	0	1	0	0	17087	547	19	4	3243	4	UNC13B	9	35396552	Nonsense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	34955241	35396552	105816879	36	16640											
CACNA1B	774	broad.mit.edu	37	chr9	140953153	140953153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacttcatcatggccatgAtagccctcaacactgtggtg	11	11	8	11	0	3	1	3	1	0	0	3	1	3	1	2	2	3	0	2	2	4	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr9:140953153A>G	uc004cog.3	+	28	4586	c.4441A>G	c.(4441-4443)Ata>Gta	p.I1481V	CACNA1B_uc022bqn.1_Missense_Mutation_p.I1481V|CACNA1B_uc011mfd.2_Missense_Mutation_p.I1082V|CACNA1B_uc004coi.3_Missense_Mutation_p.I695V	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1481					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CATGGCCATGATAGCCCTCAA	0.562													G	140953153	A	G	140953153	3	3	239	1	0	0	0	0	1	0	0	0	2565	333	12	3	4555	3	CACNA1B	9	140953153	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	105556601	140953153	260278	37	16641											
GPRIN2	9721	broad.mit.edu	37	chr10	46999948	46999948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtccgtccctggaagcGcctgcagccctgcatgtgtt	6	9	11	15	2	0	0	0	0	0	0	2	1	2	1	5	1	4	3	5	1	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:46999948G>A	uc001jec.3	+	2	1203	c.1068G>A	c.(1066-1068)gcG>gcA	p.A356A	GPRIN2_uc021ppt.1_Silent_p.A356A	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	356										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CCCTGGAAGCGCCTGCAGCCC	0.677													A	46999948	G	A	46999948	2	1	239	1	0	0	0	0	0	0	0	1	6785	1074	38	1		1	GPRIN2	10	46999948	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		46999948	88534799	38	16642											
TYSND1	219743	broad.mit.edu	37	chr10	71905229	71905229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcccgaggggacacgtGccgacaggtcactacaaggc	9	6	13	13	3	1	0	1	0	0	0	2	3	2	1	2	4	3	1	2	4	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:71905229G>A	uc001jqr.3	-	0	1268	c.1114C>T	c.(1114-1116)Cac>Tac	p.H372Y	TYSND1_uc001jqq.3_Intron|TYSND1_uc001jqs.3_Missense_Mutation_p.H372Y|TYSND1_uc001jqt.3_Intron	NM_173555	NP_775826	Q2T9J0	TYSD1_HUMAN	Homo sapiens trypsin domain containing 1 (TYSND1), transcript variant 1, mRNA.	372	Serine protease.				proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						GGGGACACGTGCCGACAGGTC	0.677													A	71905229	G	A	71905229	3	1	239	1	0	0	0	0	1	0	0	0	16919	1319	46	2	602	2	TYSND1	10	71905229	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	24905281	71905229	63629518	39	16643											
PTEN	5728	broad.mit.edu	37	chr10	89720805	89720806	+	Frame_Shift_Ins	INS	-	-	T																															aaggaatatctagtacttacINStttaacaaaaaatgatcttg																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:89720805_89720806insT	uc001kfb.3	+	7	1988_1989	c.956_957insT	c.(955-957)actfs	p.T319fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.R55fs*1(5)|p.T319del(4)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.G165_*404del(1)|p.L318fs*3(1)|p.G165_K342del(1)|p.L316fs*1(1)|p.L318F(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAA	0.332		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720806	-	T	89720805	7	5	239	1	0	1	1	0	0	0	0	0	12823	565	20	0	986	0	PTEN	10	89720805	Frame_Shift_Ins	INS	-	TCGA-32-4213-01A-01D-1353-08	17815576	89720805	45813942	40	16644											
TAF5	6877	broad.mit.edu	37	chr10	105145152	105145152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaacatttacttgtttGgtgggatataaaggacacaa	14	13	8	6	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	6	7			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:105145152G>A	uc001kwv.3	+	7	1757	c.1734G>A	c.(1732-1734)ttG>ttA	p.L578L	TAF5_uc010qqq.2_Intron	NM_006951	NP_008882	Q15542	TAF5_HUMAN	Homo sapiens TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa (TAF5), mRNA.	578					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TTACTTGTTTGGTGGGATATA	0.423													A	105145152	G	A	105145152	2	1	239	1	0	0	0	0	0	0	0	1	15625	1339	47	2		2	TAF5	10	105145152	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	15424347	105145152	30389595	41	16645											
TCF7L2	6934	broad.mit.edu	37	chr10	114711317	114711317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcatgatccccgaccTgacgagcccctacctcccca	8	8	5	20	2	2	2	2	2	0	0	4	4	4	2	8	0	2	0	8	0	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr10:114711317T>C	uc021pyi.1	+	2	839	c.332T>C	c.(331-333)cTg>cCg	p.L111P	TCF7L2_uc001lah.3_Missense_Mutation_p.L111P|TCF7L2_uc010qro.2_Missense_Mutation_p.L111P|TCF7L2_uc001lae.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrm.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrn.2_Missense_Mutation_p.L111P|TCF7L2_uc021pyg.1_5'UTR|TCF7L2_uc021pyh.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyj.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyk.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyl.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrp.2_Missense_Mutation_p.L111P|TCF7L2_uc021pym.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyn.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyo.1_Missense_Mutation_p.L111P|TCF7L2_uc021pyp.1_Missense_Mutation_p.L111P|TCF7L2_uc010qrq.2_Missense_Mutation_p.L111P|TCF7L2_uc001lac.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrk.2_Missense_Mutation_p.L111P|TCF7L2_uc001lad.4_Missense_Mutation_p.L111P|TCF7L2_uc001lag.4_Missense_Mutation_p.L111P|TCF7L2_uc001laf.4_Missense_Mutation_p.L111P|TCF7L2_uc010qrl.2_Missense_Mutation_p.L111P|TCF7L2_uc010qrr.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrs.2_Missense_Mutation_p.L5P|TCF7L2_uc010qrt.2_Missense_Mutation_p.L5P	NM_030756	NP_110383	Q9NQB0	TF7L2_HUMAN	Homo sapiens transcription factor 7-like 2 (T-cell specific, HMG-box) (TCF7L2), transcript variant 2, mRNA.	111					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		ATCCCCGACCTGACGAGCCCC	0.716			T	VTI1A	colorectal								C	114711317	T	C	114711317	3	2	239	1	0	0	0	0	1	0	0	0	15798	1580	55	3	342	3	TCF7L2	10	114711317	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	9566165	114711317	20823430	42	16646											
CD6	923	broad.mit.edu	37	chr11	60785322	60785322	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgggccctcagtatcacccGaggagcaacagtgagtcgag	10	6	13	12	2	2	1	2	1	0	0	3	4	2	2	2	2	2	2	2	2	2	1	rs137857404		TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:60785322G>C	uc001nqq.3	+	10	1899	c.1674G>C	c.(1672-1674)ccG>ccC	p.P558P	CD6_uc001nqp.3_Silent_p.P558P|CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Silent_p.P526P|CD6_uc001nqt.3_Silent_p.P517P	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	558					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity	p.H557Y(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						AGTATCACCCGAGGAGCAACA	0.552													C	60785322	G	C	60785322	2	2	239	1	0	0	0	0	0	0	0	1	3058	1045	37	4		4	CD6	11	60785322	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08		60785322	74221194	43	16647											
ARHGEF17	9828	broad.mit.edu	37	chr11	73076830	73076830	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctggtgtcgtcctcAccatgcccacttcgcccggt	4	10	10	17	3	1	0	1	0	0	0	4	0	2	0	5	2	2	1	5	2	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:73076830A>T	uc001otu.3	+	19	5854	c.5833A>T	c.(5833-5835)Acc>Tcc	p.T1945S		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	1945					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						TGTCGTCCTCACCATGCCCAC	0.657													T	73076830	A	T	73076830	3	4	239	1	0	0	0	0	1	0	0	0	903	159	6	5	5911	5	ARHGEF17	11	73076830	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	12291508	73076830	61929686	44	16648											
KDM4D	55693	broad.mit.edu	37	chr11	94731887	94731887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacccgtcaaatggcagaCgtggtcgtggtcgccctcct	6	9	11	15	4	1	1	1	0	0	1	5	1	3	1	4	3	0	1	4	3	1	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr11:94731887C>T	uc021qow.1	+	0	1351	c.1351C>T	c.(1351-1353)Cgt>Tgt	p.R451C	KDM4D_uc001pfe.3_Missense_Mutation_p.R451C	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	451					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						AAATGGCAGACGTGGTCGTGG	0.602													T	94731887	C	T	94731887	3	4	239	1	0	0	0	0	1	0	0	0	8189	536	19	1	1353	1	KDM4D	11	94731887	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	21655057	94731887	40274629	45	16649											
SLCO1B3	338821	broad.mit.edu	37	chr12	21201833	21201833	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgccggcctaaccttgacCtatgatgggtttgtatatat	8	15	10	8	1	0	2	0	2	0	0	0	2	0	2	4	2	2	3	4	2	5	8			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:21201833C>A	uc010sil.2	+						SLCO1B3_uc010sim.2_Silent_p.T441T|SLCO1B3_uc010sin.2_Silent_p.T394T			Q9NPD5	SO1B3_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 1B3 (SLCO1B3), mRNA.						bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TAACCTTGACCTATGATGGGT	0.318													A	21201833	C	A	21201833	2	1	239	1	0	0	0	0	0	0	0	1	14818	668	24	4		4	SLCO1B3	12	21201833	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		21201833	112650062	46	16650											
AAAS	8086	broad.mit.edu	37	chr12	53709176	53709176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccatcgacagagtgccagGgcccagccggatgccgtctt	7	6	13	15	3	1	1	0	0	1	1	2	3	1	2	5	2	3	0	5	2	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:53709176G>A	uc001scr.4	-	3	505	c.342C>T	c.(340-342)gcC>gcT	p.A114A	AAAS_uc001scs.4_Silent_p.A114A	NM_015665	NP_056480	Q9NRG9	AAAS_HUMAN	Homo sapiens achalasia, adrenocortical insufficiency, alacrimia (AAAS), transcript variant 1, mRNA.	114					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						AGAGTGCCAGGGCCCAGCCGG	0.562													A	53709176	G	A	53709176	2	1	239	1	0	0	0	0	0	0	0	1	8	1219	43	2		2	AAAS	12	53709176	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	32507343	53709176	80142719	47	16651											
GALNT4	282809	broad.mit.edu	37	chr12	89864247	89864247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacccgaaggatggaatgatAtgcaattaactccaccgctg	13	9	9	10	2	0	1	0	1	0	0	1	4	1	3	3	2	3	2	3	2	6	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:89864247A>G	uc001tbc.3	-	6	1068	c.701T>C	c.(700-702)aTa>aCa	p.I234T	GALNT4_uc001tba.3_Missense_Mutation_p.I192T|GALNT4_uc001tbb.3_Missense_Mutation_p.I104T|GALNT4_uc010sun.2_Non-coding_Transcript|GALNT4_uc009zsp.3_Non-coding_Transcript|GALNT4_uc009zsq.3_Intron	NM_172240	NP_001186706	Q8N4A0	GALT4_HUMAN	Homo sapiens POC1 centriolar protein homolog B (Chlamydomonas) (POC1B), transcript variant 1, mRNA.	0	Catalytic subdomain A.				carbohydrate metabolic process	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(4)|kidney(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)	14						ATGGAATGATATGCAATTAAC	0.388													G	89864247	A	G	89864247	3	3	239	1	0	0	0	0	1	0	0	0	6269	449	16	3		3	GALNT4	12	89864247	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	36155071	89864247	43987648	48	16652											
TESC	54997	broad.mit.edu	37	chr12	117486887	117486887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggtggtgtcgatgggccGgaagtaggacatgatggtca	9	9	17	6	2	1	1	1	1	0	0	2	4	1	3	1	6	0	1	1	6	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:117486887G>A	uc001twh.3	-	3	450	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TESC_uc001twi.3_Non-coding_Transcript|TESC_uc021rem.1_Missense_Mutation_p.R69W	NM_017899	NP_060369	Q96BS2	TESC_HUMAN	Homo sapiens tescalcin (TESC), transcript variant 1, mRNA.	96					negative regulation of cell proliferation|positive regulation of megakaryocyte differentiation|positive regulation of transcription, DNA-dependent|regulation of cell adhesion mediated by integrin	cytoplasm|lamellipodium|nucleus|plasma membrane|ruffle	calcium ion binding|magnesium ion binding|phosphatase inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0297)		TCGATGGGCCGGAAGTAGGAC	0.587													A	117486887	G	A	117486887	3	1	239	1	0	0	0	0	1	0	0	0	15866	1115	39	1	378	1	TESC	12	117486887	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	27622640	117486887	16365008	49	16653											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	7	14	12	8	1	2	1	0	1	2	1	2	3	2	2	1	2	2	6	1	2	2	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:123780522G>A	uc010tap.2	-	30	4115	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.A1371V|SBNO1_uc010taq.2_Missense_Mutation_p.A323V	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(4)|p.A1371A(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433													A	123780522	G	A	123780522	3	1	239	1	0	0	0	0	1	0	0	0	13954	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	6293635	123780522	10071373	50	16654											
GLT1D1	144423	broad.mit.edu	37	chr12	129360490	129360490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgcagggcacgtgtgcGttttgaaggatgcctttgac	7	11	15	8	2	0	2	0	2	0	0	0	3	0	3	1	3	3	4	1	3	1	3	rs146263464	byFrequency	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr12:129360490G>A	uc010tbh.1	+	1	76	c.67G>A	c.(67-69)Gtt>Att	p.V23I	GLT1D1_uc001uhx.1_Missense_Mutation_p.V34I|GLT1D1_uc001uhy.1_Non-coding_Transcript	NM_144669	NP_653270	Q96MS3	GL1D1_HUMAN	Homo sapiens glycosyltransferase 1 domain containing 1 (GLT1D1), mRNA.	34					biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		GCACGTGTGCGTTTTGAAGGA	0.473													A	129360490	G	A	129360490	3	1	239	1	0	0	0	0	1	0	0	0	6521	1145	40	1	106	1	GLT1D1	12	129360490	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	5579968	129360490	4491405	51	16655											
TUBA3C	7278	broad.mit.edu	37	chr13	19751585	19751585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtagggctccaccacggCcgtggagacctggggggctg	5	7	18	11	2	0	1	0	0	0	1	1	2	1	1	4	6	0	4	4	6	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:19751585C>T	uc009zzj.3	-	3	643	c.538G>A	c.(538-540)Gcc>Acc	p.A180T		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	180					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TCCACCACGGCCGTGGAGACC	0.547													T	19751585	C	T	19751585	3	4	239	1	0	0	0	0	1	0	0	0	16848	739	26	2	822	2	TUBA3C	13	19751585	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08		19751585	95418293	52	16656											
RB1	5925	broad.mit.edu	37	chr13	48954327	48954328	+	Frame_Shift_Del	DEL	AT	AT	-																															tctgaatgacaacatttttcAtatgtctttattggcgtgcg																										TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr13:48954327_48954328delAT	uc001vcb.3	+	15	1614_1615	c.1448_1449delAT	c.(1447-1449)catfs	p.H483fs		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	483	Domain A.|Pocket; binds T and E1A.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)|p.H483fs*9(2)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACATTTTTCATATGTCTTTAT	0.238		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48954328	AT	-	48954327	7	5	239	1	0	1	0	1	0	0	0	0	13186	217	8	0	1510	0	RB1	13	48954327	Frame_Shift_Del	DEL	AT	TCGA-32-4213-01A-01D-1353-08	29202742	48954327	66215551	53	16657											
HOMEZ	57594	broad.mit.edu	37	chr14	23746303	23746303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcctcagagattggaGggaggcagatgagccccgct	9	7	15	10	1	1	3	1	1	0	2	2	6	2	5	3	3	2	4	3	3	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:23746303G>A	uc001wja.2	-	1	282	c.134C>T	c.(133-135)cCt>cTt	p.P45L	HOMEZ_uc001wjb.2_Missense_Mutation_p.P47L	NM_020834	NP_065885	Q8IX15	HOMEZ_HUMAN	Homo sapiens homeobox and leucine zipper encoding (HOMEZ), mRNA.	45						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|lung(7)	12	all_cancers(95;5.54e-06)			GBM - Glioblastoma multiforme(265;0.00643)		AGAGATTGGAGGGAGGCAGAT	0.532													A	23746303	G	A	23746303	3	1	239	1	0	0	0	0	1	0	0	0	7336	1000	35	2	1522	2	HOMEZ	14	23746303	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		23746303	83603237	54	16658											
ADAM20	8748	broad.mit.edu	37	chr14	70990596	70990596	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaagatgtgcaacatcAtgttgtagtcgattattaag	15	13	9	4	1	1	2	1	1	0	1	2	3	1	2	0	0	2	3	0	0	6	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:70990596A>G	uc021rvs.1	-	0	1029	c.1029T>C	c.(1027-1029)caT>caC	p.H343H	ADAM20_uc001xme.3_Silent_p.H343H	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	293	Peptidase M12B.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GTGCAACATCATGTTGTAGTC	0.368													G	70990596	A	G	70990596	2	3	239	1	0	0	0	0	0	0	0	1	242	214	8	3		3	ADAM20	14	70990596	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	47244293	70990596	36358944	55	16659											
CDC42BPB	9578	broad.mit.edu	37	chr14	103447154	103447154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcgaagttggatgtgtCagagggactgctcacatcag	10	9	13	9	2	3	1	3	0	0	1	4	4	3	3	0	2	1	2	0	2	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:103447154C>A	uc001ymi.1	-	7	1328	c.1096G>T	c.(1096-1098)Gac>Tac	p.D366Y		NM_006035	NP_006026	Q9Y5S2	MRCKB_HUMAN	Homo sapiens CDC42 binding protein kinase beta (DMPK-like) (CDC42BPB), mRNA.	366	AGC-kinase C-terminal.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGATGTGTCAGAGGGACTG	0.463													A	103447154	C	A	103447154	3	1	239	1	0	0	0	0	1	0	0	0	3103	826	29	4	4159	4	CDC42BPB	14	103447154	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	32456558	103447154	3902386	56	16660											
AHNAK2	113146	broad.mit.edu	37	chr14	105415172	105415172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccttcacgtcggcggaaaGgggctgaatgctgaggtcag	9	7	16	9	3	2	2	2	2	0	0	3	4	2	3	1	5	1	2	1	5	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr14:105415172G>T	uc010axc.1	-	6	6736	c.6616C>A	c.(6616-6618)Ctt>Att	p.L2206I	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.L2106I	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2206						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGGAAAGGGGCTGAATG	0.642													T	105415172	G	T	105415172	3	4	239	1	0	0	0	0	1	0	0	0	415	1000	35	4	10775	4	AHNAK2	14	105415172	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	1968018	105415172	1934368	57	16661											
RYR3	6263	broad.mit.edu	37	chr15	34080624	34080624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagagatctctatgccttCtaccccatgctgatccgcta	8	12	7	14	1	2	2	0	1	2	1	4	3	3	2	4	0	4	3	4	0	3	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:34080624C>T	uc001zhi.3	+	66	9865	c.9795C>T	c.(9793-9795)ttC>ttT	p.F3265F	RYR3_uc010bar.3_Silent_p.F3265F	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	3265					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCTATGCCTTCTACCCCATGC	0.557													T	34080624	C	T	34080624	2	4	239	1	0	0	0	0	0	0	0	1	13861	912	32	2		2	RYR3	15	34080624	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		34080624	68450768	58	16662											
MAN2A2	4122	broad.mit.edu	37	chr15	91454437	91454437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgacgccctcccagagCgcacggtgatccagctggat	8	6	12	15	4	1	2	1	1	0	1	3	4	3	3	3	2	2	2	3	2	0	0	rs114870914	by1000genomes	TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr15:91454437C>T	uc010bnz.2	+	12	2027	c.1912C>T	c.(1912-1914)Cgc>Tgc	p.R638C	MAN2A2_uc010boa.3_Missense_Mutation_p.R680C|MAN2A2_uc002bqc.3_Missense_Mutation_p.R638C|MAN2A2_uc010uql.2_Missense_Mutation_p.R300C|MAN2A2_uc010uqm.2_Missense_Mutation_p.R217C|MAN2A2_uc010uqn.1_5'Flank	NM_006122	NP_006113	P49641	MA2A2_HUMAN	Homo sapiens mannosidase, alpha, class 2A, member 2 (MAN2A2), mRNA.	638					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCTCCCAGAGCGCACGGTGAT	0.617													T	91454437	C	T	91454437	3	4	239	1	0	0	0	0	1	0	0	0	9290	768	27	1	1958	1	MAN2A2	15	91454437	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	57373813	91454437	11076955	59	16663											
ADCY9	115	broad.mit.edu	37	chr16	4042213	4042213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttcttgaacctcagcGgaaggagagccgactggtcc	9	8	14	10	2	2	2	1	1	1	1	3	6	3	4	3	4	3	1	3	4	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:4042213G>T	uc002cvx.3	-	4	2680	c.2141C>A	c.(2140-2142)cCg>cAg	p.P714Q		NM_001116	NP_001107	O60503	ADCY9_HUMAN	Homo sapiens adenylate cyclase 9 (ADCY9), mRNA.	714					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAACCTCAGCGGAAGGAGAGC	0.542													T	4042213	G	T	4042213	3	4	239	1	0	0	0	0	1	0	0	0	301	1116	39	4	1948	4	ADCY9	16	4042213	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		4042213	86312540	60	16664											
SOCS1	8651	broad.mit.edu	37	chr16	11348719	11348719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaaatctggaaggggaagGagctcaggtagtcgcggagg	11	6	18	6	2	3	0	2	0	1	0	4	4	3	4	0	7	1	2	0	7	4	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:11348719G>T	uc021tcz.1	-	0	617	c.617C>A	c.(616-618)tCc>tAc	p.S206Y	RMI2_uc002daq.1_Intron|SOCS1_uc002dar.1_Missense_Mutation_p.S206Y	NM_003745	NP_003736	O15524	SOCS1_HUMAN	Homo sapiens suppressor of cytokine signaling 1 (SOCS1), mRNA.	206	SOCS box.				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.S206P(1)|p.R127_*212del(1)|p.0?(1)|p.S205N(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						GAAGGGGAAGGAGCTCAGGTA	0.627			"F, O"		"Hodgkin Lymphoma, PMBL"								T	11348719	G	T	11348719	3	4	239	1	0	0	0	0	1	0	0	0	15007	1174	41	4	22	4	SOCS1	16	11348719	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	7306506	11348719	79006034	61	16665											
SEZ6L2	26470	broad.mit.edu	37	chr16	29908260	29908260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagggctgggtgggggtgGggctgtggttcctgggggcg	1	8	26	6	1	0	0	0	0	0	0	1	0	1	0	1	10	0	4	1	10	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:29908260G>A	uc010vec.2	-	2	639	c.394C>T	c.(394-396)Cca>Tca	p.P132S	BOLA2_uc010bzb.1_Intron|SEZ6L2_uc002dup.4_Intron|SEZ6L2_uc002dur.4_Intron|SEZ6L2_uc002duq.4_Missense_Mutation_p.P132S|SEZ6L2_uc010ved.2_Missense_Mutation_p.P88S|SEZ6L2_uc002dus.4_Missense_Mutation_p.P132S	NM_001243332	NP_001230261	Q6UXD5	SE6L2_HUMAN	Homo sapiens seizure related 6 homolog (mouse)-like 2 (SEZ6L2), transcript variant 5, mRNA.	132	Pro-rich.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGTGGGGGTGGGGCTGTGGTT	0.687													A	29908260	G	A	29908260	3	1	239	1	0	0	0	0	1	0	0	0	14237	1232	43	2	2441	2	SEZ6L2	16	29908260	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	18559541	29908260	60446493	62	16666											
CHD9	80205	broad.mit.edu	37	chr16	53358755	53358755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgcttcatctggatCtgatagtacatcgtcgtcat	9	14	9	9	2	4	2	2	2	2	0	6	3	4	3	0	1	3	3	0	1	2	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:53358755C>A	uc002ehb.3	+	37	8806	c.8642C>A	c.(8641-8643)tCt>tAt	p.S2881Y	CHD9_uc002egy.3_Missense_Mutation_p.S2865Y|CHD9_uc002ehc.3_Missense_Mutation_p.S2866Y|CHD9_uc002ehf.3_Missense_Mutation_p.S1979Y|CHD9_uc002ehg.2_Missense_Mutation_p.S1996Y|CHD9_uc010cbw.3_Missense_Mutation_p.S947Y	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2881	Poly-Ser.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCATCTGGATCTGATAGTACA	0.388													A	53358755	C	A	53358755	3	1	239	1	0	0	0	0	1	0	0	0	3362	913	32	4	8744	4	CHD9	16	53358755	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	23450495	53358755	36995998	63	16667											
CDH8	1006	broad.mit.edu	37	chr16	61687800	61687800	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgccttggcataaactgCaaatctggtttaatatcctt	10	15	6	10	0	1	0	0	0	1	0	2	0	2	0	3	2	3	3	3	2	5	7			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr16:61687800C>A	uc002eog.2	-	11	3067	c.2112G>T	c.(2110-2112)ttG>ttT	p.L704F		NM_001796	NP_001787	P55286	CADH8_HUMAN	Homo sapiens cadherin 8, type 2 (CDH8), mRNA.	704					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		GCATAAACTGCAAATCTGGTT	0.428													A	61687800	C	A	61687800	3	1	239	1	0	0	0	0	1	0	0	0	3146	709	25	4	291	4	CDH8	16	61687800	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	8329045	61687800	28666953	64	16668											
DPH1	1801	broad.mit.edu	37	chr17	1936938	1936938	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctggaggatccaacaagcCcaggccaagaagggtgagcc	13	4	13	11	0	1	2	0	1	1	1	2	4	2	4	4	4	3	0	4	4	4	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:1936938C>A	uc010vqs.2	+	0	252	c.246C>A	c.(244-246)gcC>gcA	p.A82A	DPH1_uc002fts.3_Silent_p.A72A|DPH1_uc002ftt.3_Silent_p.A67A|DPH1_uc010cjx.3_5'UTR	NM_001383	NP_001374	Q9BZG8	DPH1_HUMAN	Homo sapiens DPH1 homolog (S. cerevisiae) (DPH1), mRNA.	72					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						TCCAACAAGCCCAGGCCAAGA	0.582													A	1936938	C	A	1936938	2	1	239	1	0	0	0	0	0	0	0	1	4758	610	22	4		4	DPH1	17	1936938	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08		1936938	79258272	65	16669											
KRT38	8687	broad.mit.edu	37	chr17	39594785	39594785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctccagggcattcacCgtgcatctcagctccaggat	8	9	8	16	1	2	0	2	0	1	0	6	1	5	1	5	2	2	3	5	2	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39594785C>T	uc002hwq.1	-	4	1401	c.978G>A	c.(976-978)acG>acA	p.T326T		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	326	Coil 2.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGGCATTCACCGTGCATCTCA	0.597													T	39594785	C	T	39594785	2	4	239	1	0	0	0	0	0	0	0	1	8533	639	23	1		1	KRT38	17	39594785	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	37657847	39594785	41600425	66	16670											
KRT16	3868	broad.mit.edu	37	chr17	39768925	39768925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggaggtgaactggcGgctgcaggtggtcatggtgc	6	8	20	7	1	1	1	1	1	0	0	1	3	1	3	0	8	3	3	0	8	1	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:39768925G>A	uc002hxg.4	-	0	155	c.16C>T	c.(16-18)Cgc>Tgc	p.R6C	JUP_uc010wfs.2_Intron|KRT16_uc021txm.1_Missense_Mutation_p.R6C	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	6	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.R6L(1)		NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGAACTGGCGGCTGCAGGTG	0.657													A	39768925	G	A	39768925	3	1	239	1	0	0	0	0	1	0	0	0	8511	1116	39	1	1437	1	KRT16	17	39768925	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	174140	39768925	41426285	67	16671											
KLHL11	55175	broad.mit.edu	37	chr17	40010614	40010614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcaatgtatacaaacCggtcttcaatggctagtgct	10	10	12	9	2	2	0	1	0	1	0	2	0	2	0	1	4	3	4	1	4	6	4			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:40010614C>T	uc002hyf.1	-	1	1511	c.1505G>A	c.(1504-1506)cGg>cAg	p.R502Q		NM_018143	NP_060613	Q9NVR0	KLH11_HUMAN	Homo sapiens kelch-like 11 (Drosophila) (KLHL11), mRNA.	502						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GTATACAAACCGGTCTTCAAT	0.443													T	40010614	C	T	40010614	3	4	239	1	0	0	0	0	1	0	0	0	8425	652	23	1	625	1	KLHL11	17	40010614	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	241689	40010614	41184596	68	16672											
NPTX1	4884	broad.mit.edu	37	chr17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccacacctggcgtggCgctggacttgagccacatgc	6	7	13	15	3	0	1	0	1	0	0	0	2	0	2	3	3	3	1	3	3	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr17:78447110C>T	uc002jyp.1	-	2	945	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522	NP_002513	Q15818	NPTX1_HUMAN	Homo sapiens neuronal pentraxin I (NPTX1), mRNA.	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587													T	78447110	C	T	78447110	3	4	239	1	0	0	0	0	1	0	0	0	10678	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	38436496	78447110	2748100	69	16673											
POTEC	388468	broad.mit.edu	37	chr18	14533125	14533125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagatcttgagaagatacAtcaacattttgctcaaggag	15	11	9	6	0	3	3	2	1	1	3	3	6	3	4	0	1	3	1	0	1	5	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr18:14533125A>G	uc010dln.3	-	4	1444	c.990T>C	c.(988-990)gaT>gaC	p.D330D	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	330										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAGAAGATACATCAACATTTT	0.373													G	14533125	A	G	14533125	2	3	239	1	0	0	0	0	0	0	0	1	12339	214	8	3		3	POTEC	18	14533125	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08		14533125	63544123	70	16674											
STXBP2	6813	broad.mit.edu	37	chr19	7707143	7707143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgggcagctgaccccGtgtccccactactgcatgag	7	7	12	15	2	0	2	0	2	0	0	1	3	1	3	5	2	3	3	5	2	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:7707143G>A	uc010xjr.2	+	8	796	c.751G>A	c.(751-753)Gtg>Atg	p.V251M	STXBP2_uc002mha.4_Missense_Mutation_p.V240M|STXBP2_uc002mhb.4_Missense_Mutation_p.V237M|STXBP2_uc010dvj.3_Non-coding_Transcript|STXBP2_uc002mhe.1_5'Flank	NM_006949	NP_008880	Q15833	STXB2_HUMAN	Homo sapiens syntaxin binding protein 2 (STXBP2), transcript variant 1, mRNA.	240					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding	p.Q250H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						AGCTGACCCCGTGTCCCCACT	0.607													A	7707143	G	A	7707143	3	1	239	1	0	0	0	0	1	0	0	0	15449	1145	40	1	752	1	STXBP2	19	7707143	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		7707143	51421840	71	16675											
USE1	55850	broad.mit.edu	37	chr19	17330166	17330166	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaccaataccctggcCgcccagagtgtcatcaagaa	13	6	8	14	1	3	3	3	0	0	3	3	3	3	3	4	1	1	0	4	1	5	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:17330166C>T	uc002nfo.2	+	6	627	c.567C>T	c.(565-567)gcC>gcT	p.A189A	USE1_uc010eal.1_Intron	NM_018467	NP_060937	Q9NZ43	USE1_HUMAN	Homo sapiens unconventional SNARE in the ER 1 homolog (S. cerevisiae) (USE1), mRNA.	189					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						ATACCCTGGCCGcccagagtg	0.607													T	17330166	C	T	17330166	2	4	239	1	0	0	0	0	0	0	0	1	17133	639	23	1		1	USE1	19	17330166	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	9623023	17330166	41798817	72	16676											
ZNF85	7639	broad.mit.edu	37	chr19	21131689	21131689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgaaagtatggatgaGtgtaagatgcacaaaggagg	14	8	16	3	0	0	3	0	2	0	1	0	5	0	5	0	4	1	4	0	4	4	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:21131689G>A	uc002npg.4	+	3	517	c.369G>A	c.(367-369)gaG>gaA	p.E123E	ZNF85_uc010ecn.3_Silent_p.E58E|ZNF85_uc010eco.3_Silent_p.E71E|ZNF85_uc002npi.3_Silent_p.E64E	NM_003429	NP_003420	Q03923	ZNF85_HUMAN	Homo sapiens zinc finger protein 85 (ZNF85), transcript variant 1, mRNA.	123						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						GTATGGATGAGTGTAAGATGC	0.328													A	21131689	G	A	21131689	2	1	239	1	0	0	0	0	0	0	0	1	18292	1020	36	2		2	ZNF85	19	21131689	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	3801523	21131689	37997294	73	16677											
MLL2	9757	broad.mit.edu	37	chr19	36223857	36223857	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccctagagaggagtcacTccccccggcgcctcccctgg	5	6	12	18	2	1	1	1	0	0	1	3	3	3	2	7	4	0	0	7	4	1	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr19:36223857T>A	uc021usv.1	+	27	6407	c.6407T>A	c.(6406-6408)cTc>cAc	p.L2136H	MLL2_uc021usu.1_Missense_Mutation_p.L950H	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	705	Pro-rich.				chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GAGGAGTCACTCCCCCCGGCG	0.662			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	36223857	T	A	36223857	3	1	239	1	0	0	0	0	1	0	0	0	9696	1551	54	5		5	MLL2	19	36223857	Missense_Mutation	SNP	T	TCGA-32-4213-01A-01D-1353-08	15092168	36223857	22905126	74	16678											
TPTE	7179	broad.mit.edu	37	chr21	10934961	10934961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagattgtagactcgatagtGgtttcggtgtttcttatcta	8	18	10	5	2	2	2	0	0	2	2	4	3	2	2	0	2	0	3	0	2	5	8			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:10934961G>T	uc002yip.1	-	14	1200	c.832C>A	c.(832-834)Cac>Aac	p.H278N	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.H260N|TPTE_uc002yir.1_Missense_Mutation_p.H240N|TPTE_uc010gkv.1_Missense_Mutation_p.H140N	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	278	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTCGATAGTGGTTTCGGTGT	0.348													T	10934961	G	T	10934961	3	4	239	1	0	0	0	0	1	0	0	0	16531	1348	47	4	863	4	TPTE	21	10934961	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		10934961	37194934	75	16679											
C21orf7	56911	broad.mit.edu	37	chr21	30547106	30547106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagctggttcgggaattcGaggctctgacggaggagaat	9	9	16	7	3	1	3	0	2	1	1	3	7	1	5	0	5	1	3	0	5	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:30547106G>A	uc002ynf.3	+	8	899	c.622G>A	c.(622-624)Gag>Aag	p.E208K	C21orf7_uc011acr.2_Non-coding_Transcript|C21orf7_uc002ynd.3_Non-coding_Transcript|C21orf7_uc010gln.3_Non-coding_Transcript|C21orf7_uc002yne.3_Missense_Mutation_p.E208K|C21orf7_uc010glo.3_Missense_Mutation_p.E53K|C21orf7_uc002yng.3_Missense_Mutation_p.E108K|C21orf7_uc010glp.3_Non-coding_Transcript	NM_020152	NP_064537	P57077	TAK1L_HUMAN	Homo sapiens chromosome 21 open reading frame 7 (C21orf7), mRNA.	208						cytosol|nucleus	protein binding	p.F207F(1)		ovary(2)|prostate(1)	3				Colorectal(56;0.248)		TCGGGAATTCGAGGCTCTGAC	0.517													A	30547106	G	A	30547106	3	1	239	1	0	0	0	0	1	0	0	0	2153	1059	37	1	648	1	C21orf7	21	30547106	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	19612145	30547106	17582789	76	16680											
SON	6651	broad.mit.edu	37	chr21	34925244	34925244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcagtgtcagcatcagAtccctcagttttagtatcag	10	15	7	9	0	5	1	5	0	0	1	6	1	6	1	1	0	1	3	1	0	3	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:34925244A>G	uc002yse.1	+	2	3756	c.3707A>G	c.(3706-3708)gAt>gGt	p.D1236G	SON_uc002ysb.1_Missense_Mutation_p.D1236G|SON_uc002ysc.3_Missense_Mutation_p.D1236G|SON_uc002ysd.3_Missense_Mutation_p.D227G|SON_uc002ysf.1_Intron|SON_uc021win.1_Missense_Mutation_p.D882G|SON_uc002ysg.3_Missense_Mutation_p.D227G	NM_138927	NP_620305	P18583	SON_HUMAN	Homo sapiens SON DNA binding protein (SON), transcript variant f, mRNA.	1236					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCAGCATCAGATCCCTCAGTT	0.478													G	34925244	A	G	34925244	3	3	239	1	0	0	0	0	1	0	0	0	15020	333	12	3	3717	3	SON	21	34925244	Missense_Mutation	SNP	A	TCGA-32-4213-01A-01D-1353-08	4378138	34925244	13204651	77	16681											
TRAPPC10	7109	broad.mit.edu	37	chr21	45503036	45503036	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactgggattatctgcagAaacgtccacatgctcctgag	11	9	10	11	2	1	2	0	1	1	1	3	4	3	3	2	1	3	2	2	1	2	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:45503036A>G	uc002zea.3	+	13	2260	c.2091A>G	c.(2089-2091)agA>agG	p.R697R	TRAPPC10_uc010gpo.3_Silent_p.R408R|TRAPPC10_uc011afa.2_Silent_p.R116R	NM_003274	NP_003265	P48553	TPC10_HUMAN	Homo sapiens trafficking protein particle complex 10 (TRAPPC10), mRNA.	697					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						TTATCTGCAGAAACGTCCACA	0.547													G	45503036	A	G	45503036	2	3	239	1	0	0	0	0	0	0	0	1	16558	243	9	3		3	TRAPPC10	21	45503036	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	10577792	45503036	2626859	78	16682											
COL6A2	1292	broad.mit.edu	37	chr21	47531965	47531965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaccatgcagtcccccaCggacatcctgctcttccaca	8	8	6	19	2	2	0	1	0	1	0	5	1	5	1	5	1	2	2	5	1	0	1			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr21:47531965C>T	uc002zia.1	+	2	270	c.188C>T	c.(187-189)aCg>aTg	p.T63M	COL6A2_uc002zhz.1_Missense_Mutation_p.T63M|COL6A2_uc002zhy.1_Missense_Mutation_p.T63M	NM_001849	NP_001840	P12110	CO6A2_HUMAN	Homo sapiens collagen, type VI, alpha 2 (COL6A2), transcript variant 2C2, mRNA.	63	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	p.T63M(4)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGTCCCCCACGGACATCCTG	0.612													T	47531965	C	T	47531965	3	4	239	1	0	0	0	0	1	0	0	0	3731	536	19	1	194	1	COL6A2	21	47531965	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	2028929	47531965	597930	79	16683											
YDJC	150223	broad.mit.edu	37	chr22	21984158	21984158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcgggccagctccgccGcgctctccgtggccgcaccg	3	5	13	20	7	1	0	0	0	1	0	3	0	2	0	7	2	2	3	7	2	0	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:21984158G>A	uc002zvb.2	-	0	183	c.146C>T	c.(145-147)gCg>gTg	p.A49V	YDJC_uc002zvc.2_Non-coding_Transcript|YDJC_uc002zvd.2_Missense_Mutation_p.A49V|CCDC116_uc011aih.1_5'Flank|CCDC116_uc002zve.3_5'Flank	NM_001017964	NP_001017964	A8MPS7	YDJC_HUMAN	Homo sapiens YdjC homolog (bacterial) (YDJC), mRNA.	49					carbohydrate metabolic process		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds					Colorectal(54;0.105)					CAGCTCCGCCGCGCTCTCCGT	0.731													A	21984158	G	A	21984158	3	1	239	1	0	0	0	0	1	0	0	0	17573	1087	38	1	845	1	YDJC	22	21984158	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		21984158	29320408	80	16684											
TYMP	1890	broad.mit.edu	37	chr22	50967631	50967631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcacccacaccccctgtGgaatgcttgtccacaagctg	8	10	8	15	0	1	0	1	0	0	0	2	1	2	1	4	1	2	2	4	1	2	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chr22:50967631G>A	uc003bme.4	-	2	543	c.351C>T	c.(349-351)tcC>tcT	p.S117S	SCO2_uc021wsa.1_5'Flank|TYMP_uc003bmb.4_Silent_p.S117S|TYMP_uc003bmc.4_Silent_p.S117S|TYMP_uc010hbd.3_Silent_p.S117S|TYMP_uc003bmd.4_Silent_p.S117S|TYMP_uc011arz.1_Silent_p.S117S	NM_001953	NP_001944	P19971	TYPH_HUMAN	Homo sapiens thymidine phosphorylase (TYMP), transcript variant 2, mRNA.	117					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	CACCCCCTGTGGAATGCTTGT	0.637													A	50967631	G	A	50967631	2	1	239	1	0	0	0	0	0	0	0	1	16913	1335	47	2		2	TYMP	22	50967631	Silent	SNP	G	TCGA-32-4213-01A-01D-1353-08	28983473	50967631	336935	81	16685											
FAM9A	171482	broad.mit.edu	37	chrX	8766427	8766427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcatctttttcagcaaaaGgttctctttccccatgctca	8	16	5	12	0	5	0	3	0	2	0	7	0	6	0	2	1	2	4	2	1	2	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:8766427G>T	uc022bsk.1	-	3	450	c.314C>A	c.(313-315)cCt>cAt	p.P105H	FAM9A_uc004csg.3_Missense_Mutation_p.P105H	NM_001171186	NP_777611	Q8IZU1	FAM9A_HUMAN	Homo sapiens family with sequence similarity 9, member A (FAM9A), transcript variant 1, mRNA.	105						nucleolus				endometrium(11)|kidney(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	18		Hepatocellular(5;0.219)				TTCAGCAAAAGGTTCTCTTTC	0.423													T	8766427	G	T	8766427	3	4	239	1	0	0	0	0	1	0	0	0	5708	1000	35	4	708	4	FAM9A	23	8766427	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08		8766427	146504133	82	16686											
MED14	9282	broad.mit.edu	37	chrX	40562700	40562700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttagtaacttaccaagTccataaagcatcaattgaaa	17	12	4	8	0	2	1	2	1	0	0	3	1	3	1	2	0	3	2	2	0	8	6			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:40562700T>C	uc004dex.4	-	10	1547	c.1407A>G	c.(1405-1407)ggA>ggG	p.G469G		NM_004229	NP_004220	O60244	MED14_HUMAN	Homo sapiens mediator complex subunit 14 (MED14), mRNA.	469	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACTTACCAAGTCCATAAAGCA	0.303													C	40562700	T	C	40562700	2	2	239	1	0	0	0	0	0	0	0	1	9507	1654	58	3		3	MED14	23	40562700	Silent	SNP	T	TCGA-32-4213-01A-01D-1353-08	31796273	40562700	114707860	83	16687											
PFKFB1	5207	broad.mit.edu	37	chrX	54986282	54986282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgaccttcctcatggCtgagatagttgtgaacatcc	11	11	8	11	0	1	3	1	3	0	1	3	4	3	3	3	1	2	2	3	1	3	3			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:54986282C>T	uc004dty.1	-	3	433	c.362G>A	c.(361-363)aGc>aAc	p.S121N	PFKFB1_uc010nkd.1_Missense_Mutation_p.S107N|PFKFB1_uc011mol.1_Missense_Mutation_p.S56N	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	121	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCCTCATGGCTGAGATAGTT	0.433													T	54986282	C	T	54986282	3	4	239	1	0	0	0	0	1	0	0	0	11837	797	28	2	1097	2	PFKFB1	23	54986282	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	14423582	54986282	100284278	84	16688											
SPIN3	169981	broad.mit.edu	37	chrX	57020821	57020821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattggaatcttgaaggatgCggaggtcaccatctttataa	12	12	10	7	1	3	1	1	1	2	0	3	4	3	4	1	4	1	0	1	4	4	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:57020821C>T	uc022bxv.1	-	0	560	c.560G>A	c.(559-561)cGc>cAc	p.R187H	SPIN3_uc004duu.4_Intron|SPIN3_uc004duw.4_Intron|SPIN3_uc004duv.4_Intron|SPIN3_uc010nkj.2_Missense_Mutation_p.R187H|SPIN3_uc004dux.1_Missense_Mutation_p.R187H	NM_001010862	NP_001010862	Q5JUX0	SPIN3_HUMAN	Homo sapiens spindlin family, member 3 (SPIN3), transcript variant 1, mRNA.	187					gamete generation					central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4						TTGAAGGATGCGGAGGTCACC	0.443													T	57020821	C	T	57020821	3	4	239	1	0	0	0	0	1	0	0	0	15151	768	27	1	220	1	SPIN3	23	57020821	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	2034539	57020821	98249739	85	16689											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722249	64722249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacttctccaaactgaacatCaacagcatgcataaccgaga	16	7	6	12	1	2	2	1	1	1	1	3	4	2	2	2	0	6	2	2	0	4	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:64722249C>T	uc010nko.3	+	4	1738	c.1671C>T	c.(1669-1671)atC>atT	p.I557I		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	546							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						AACTGAACATCAACAGCATGC	0.483													T	64722249	C	T	64722249	2	4	239	1	0	0	0	0	0	0	0	1	17663	816	29	2		2	ZC3H12B	23	64722249	Silent	SNP	C	TCGA-32-4213-01A-01D-1353-08	7701428	64722249	90548311	86	16690											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177514	89177514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccgaggcgtctgtgccgGccaagtcagggcccagtggt	6	6	16	13	3	2	0	1	0	1	0	2	1	2	0	4	4	1	1	4	4	1	0			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:89177514G>A	uc022bzr.1	+	0	430	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	TGIF2LX_uc004efe.3_Missense_Mutation_p.A144T	NM_138960	NP_620410	Q8IUE1	TF2LX_HUMAN	Homo sapiens TGFB-induced factor homeobox 2-like, X-linked (TGIF2LX), mRNA.	144						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.P143S(1)|p.P143Q(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						GTCTGTGCCGGCCAAGTCAGG	0.582													A	89177514	G	A	89177514	3	1	239	1	0	0	0	0	1	0	0	0	15927	1203	42	2	432	2	TGIF2LX	23	89177514	Missense_Mutation	SNP	G	TCGA-32-4213-01A-01D-1353-08	24455265	89177514	66093046	87	16691											
NRK	203447	broad.mit.edu	37	chrX	105181458	105181458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgttgggaacccgatCtaatctatatctgatggaca	10	14	9	8	1	3	1	0	1	3	0	3	4	3	3	1	2	2	2	1	2	4	5			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:105181458C>A	uc004emd.3	+	21	3986	c.3683C>A	c.(3682-3684)tCt>tAt	p.S1228Y	NRK_uc010npc.1_Missense_Mutation_p.S896Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1228	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGAACCCGATCTAATCTATAT	0.353										HNSCC(51;0.14)			A	105181458	C	A	105181458	3	1	239	1	0	0	0	0	1	0	0	0	10731	913	32	4	3769	4	NRK	23	105181458	Missense_Mutation	SNP	C	TCGA-32-4213-01A-01D-1353-08	16003944	105181458	50089102	88	16692											
COL4A6	1288	broad.mit.edu	37	chrX	107404862	107404862	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaccttcaaatcctggAgggccttgcagtccaggcag	10	8	11	12	0	2	1	2	0	0	1	4	2	4	2	4	3	1	2	4	3	1	2			TCGA-32-4213-01A-01D-1353-08	TCGA-32-4213-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	540254b7-1e24-4c10-a467-544de9041f41	4555a302-112d-423b-9b1d-272557799539	g.chrX:107404862A>G	uc004enw.4	-	41	4426	c.4323T>C	c.(4321-4323)ccT>ccC	p.P1441P	COL4A6_uc004env.4_Silent_p.P1440P|COL4A6_uc011msn.2_Silent_p.P1416P|COL4A6_uc010npk.3_Silent_p.P1383P|COL4A6_uc011msm.1_5'Flank	NM_001847	NP_001838	Q14031	CO4A6_HUMAN	Homo sapiens collagen, type IV, alpha 6 (COL4A6), transcript variant A, mRNA.	1441	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CAAATCCTGGAGGGCCTTGCA	0.607									Alport syndrome with Diffuse Leiomyomatosis				G	107404862	A	G	107404862	2	3	239	1	0	0	0	0	0	0	0	1	3726	291	11	3		3	COL4A6	23	107404862	Silent	SNP	A	TCGA-32-4213-01A-01D-1353-08	2223404	107404862	47865698	89	16693											
FUCA1	2517	broad.mit.edu	37	chr1	24186383	24186383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccatcagaccagatcagatCaggtttatagctggaagaca	14	8	9	10	0	3	4	3	0	0	4	3	5	3	5	2	2	1	2	2	2	3	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:24186383C>G	uc001bie.3	-	3	756	c.673G>C	c.(673-675)Gat>Cat	p.D225H	FUCA1_uc009vqt.2_Non-coding_Transcript|FUCA1_uc010oed.1_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	225					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CAGATCAGATCAGGTTTATAG	0.403													G	24186383	C	G	24186383	3	3	240	1	0	0	0	0	1	0	0	0	6146	826	29	4	747	4	FUCA1	1	24186383	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		24186383	225064238	1	16694											
PODN	127435	broad.mit.edu	37	chr1	53544261	53544261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccttccagggcctcaagcGgttgcacacggtgcacctgt	6	8	13	14	2	1	0	1	0	0	0	2	0	2	0	4	4	3	3	4	4	1	2	rs138913141		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:53544261G>A	uc001cuv.3	+	7	1391	c.1223G>A	c.(1222-1224)cGg>cAg	p.R408Q	PODN_uc010onr.2_Missense_Mutation_p.R389Q|PODN_uc010ons.2_Missense_Mutation_p.R266Q|PODN_uc001cuw.3_Missense_Mutation_p.R389Q	NM_153703	NP_714914	Q7Z5L7	PODN_HUMAN	Homo sapiens podocan (PODN), transcript variant 1, mRNA.	360					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGCCTCAAGCGGTTGCACACG	0.647													A	53544261	G	A	53544261	3	1	240	1	0	0	0	0	1	0	0	0	12255	1116	39	1	1253	1	PODN	1	53544261	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	29357878	53544261	195706360	2	16695											
INADL	10207	broad.mit.edu	37	chr1	62299351	62299351	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaatatggatgtcaataCtgaagaagatgatgatgggg	15	9	12	5	0	1	5	1	3	0	2	1	6	1	6	1	3	1	0	1	3	6	2	rs112258254	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:62299351C>G	uc001dab.3	+	16	2120	c.2006C>G	c.(2005-2007)aCt>aGt	p.T669S	INADL_uc009waf.1_Missense_Mutation_p.T669S|INADL_uc001daa.2_Missense_Mutation_p.T669S|INADL_uc001dad.3_Missense_Mutation_p.T366S|INADL_uc001dac.3_Non-coding_Transcript	NM_176877	NP_795352	Q8NI35	INADL_HUMAN	Homo sapiens InaD-like (Drosophila) (INADL), mRNA.	669					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GATGTCAATACTGAAGAAGAT	0.363													G	62299351	C	G	62299351	3	3	240	1	0	0	0	0	1	0	0	0	7789	565	20	4	2068	4	INADL	1	62299351	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	8755090	62299351	186951270	3	16696											
TTC24	164118	broad.mit.edu	37	chr1	156554756	156554756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcagcacagcaggtGtccagcacaggtgagggtgg	11	4	17	9	0	0	1	0	1	0	0	1	2	1	2	1	5	4	4	1	5	1	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:156554756G>A	uc021pbf.1	+	6	1375	c.1339G>A	c.(1339-1341)Gtc>Atc	p.V447I		NM_001105669	NP_001099139	A2A3L6	TTC24_HUMAN	Homo sapiens tetratricopeptide repeat domain 24 (TTC24), mRNA.	447							binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|prostate(1)	20	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACAGCAGGTGTCCAGCACAG	0.642													A	156554756	G	A	156554756	3	1	240	1	0	0	0	0	1	0	0	0	16794	1377	48	2	1361	2	TTC24	1	156554756	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	94255405	156554756	92695865	4	16697											
ETV3L	440695	broad.mit.edu	37	chr1	157068529	157068529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccacgggcaccagcgctGgccgacacagggcaggggcc	8	1	15	17	3	0	0	0	0	0	0	0	1	0	0	4	5	1	3	4	5	0	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:157068529G>T	uc001fqq.2	-	2	740	c.455C>A	c.(454-456)cCa>cAa	p.P152Q		NM_001004341	NP_001004341	Q6ZN32	ETV3L_HUMAN	Homo sapiens ets variant 3-like (ETV3L), mRNA.	152						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				CACCAGCGCTGGCCGACACAG	0.652													T	157068529	G	T	157068529	3	4	240	1	0	0	0	0	1	0	0	0	5321	1348	47	4	642	4	ETV3L	1	157068529	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	513773	157068529	92182092	5	16698											
PLEKHA6	22874	broad.mit.edu	37	chr1	204214763	204214763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgcttggcggtgtccGtgccccgggaggggttgttc	1	12	17	11	3	1	0	0	0	1	0	3	1	2	1	3	5	2	3	3	5	0	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:204214763G>A	uc001hau.3	-	13	2329	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	PLEKHA6_uc009xau.1_5'Flank|PLEKHA6_uc009xav.1_5'Flank	NM_014935	NP_055750	Q9Y2H5	PKHA6_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 6 (PLEKHA6), mRNA.	671										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GGCGGTGTCCGTGCCCCGGGA	0.602													A	204214763	G	A	204214763	3	1	240	1	0	0	0	0	1	0	0	0	12137	1145	40	1	1170	1	PLEKHA6	1	204214763	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	47146234	204214763	45035858	6	16699											
OR2T12	127064	broad.mit.edu	37	chr1	248458330	248458330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtcagcacaagccaaaCgcaccaacacgggggcctcg	13	3	11	14	3	1	0	1	0	0	0	2	0	1	0	3	2	4	2	3	2	4	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr1:248458330C>T	uc010pzj.2	-	0	551	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R184C(1)|p.R184S(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			ACAAGCCAAACGCACCAACAC	0.552													T	248458330	C	T	248458330	3	4	240	1	0	0	0	0	1	0	0	0	11095	536	19	1	414	1	OR2T12	1	248458330	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	44243567	248458330	792291	7	16700											
PTPN18	26469	broad.mit.edu	37	chr2	131128796	131128796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccactctacgacgatGccctcttcctccggactccc	5	9	7	20	3	2	0	0	0	2	0	5	3	5	1	6	1	3	0	6	1	1	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:131128796G>A	uc002trc.3	+	11	1050	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	PTPN18_uc002trb.3_Missense_Mutation_p.A210T|PTPN18_uc002tre.3_5'Flank	NM_014369	NP_055184	Q99952	PTN18_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 18 (brain-derived) (PTPN18), transcript variant 1, mRNA.	317						cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					CTACGACGATGCCCTCTTCCT	0.622													A	131128796	G	A	131128796	3	1	240	1	0	0	0	0	1	0	0	0	12870	1319	46	2	995	2	PTPN18	2	131128796	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		131128796	112070577	8	16701											
LRP1B	53353	broad.mit.edu	37	chr2	141812781	141812781	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagacagatgtgtgaacAgccccctggcattccatatg	11	9	11	10	0	0	3	0	1	0	2	1	4	1	3	3	1	2	2	3	1	3	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:141812781A>T	uc002tvj.1	-	9	2428	c.1456T>A	c.(1456-1458)Tgt>Agt	p.C486S	LRP1B_uc010fnl.1_Intron	NM_018557	NP_061027	Q9NZR2	LRP1B_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1B (LRP1B), mRNA.	486					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.G485fs*56(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGTGTGAACAGCCCCCTGGC	0.438										TSP Lung(27;0.18)			T	141812781	A	T	141812781	3	4	240	1	0	0	0	0	1	0	0	0	9025	188	7	5	12671	5	LRP1B	2	141812781	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08	10683985	141812781	101386592	9	16702											
TTN	7273	broad.mit.edu	37	chr2	179606204	179606204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgattctgtttcaGtgtctttgtgaccctctcct	4	17	7	13	0	4	2	1	2	3	0	5	2	4	2	3	0	1	2	3	0	0	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:179606204G>T	uc021vsy.1	-						TTN_uc021vsz.1_Missense_Mutation_p.T3748N|TTN_uc021vta.1_Missense_Mutation_p.T3681N|TTN_uc021vtb.1_Missense_Mutation_p.T3556N|TTN_uc002umz.1_Intron	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTGTTTCAGTGTCTTTGTG	0.428													T	179606204	G	T	179606204	3	4	240	1	0	0	0	0	1	0	0	0	16837	1029	36	4	93033	4	TTN	2	179606204	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	37793423	179606204	63593169	10	16703											
FN1	2335	broad.mit.edu	37	chr2	216232682	216232682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttcccactcatctccaaCggcataatgggaaactgtgt	10	11	8	12	2	2	0	1	0	1	0	5	1	3	1	2	2	2	2	2	2	3	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:216232682C>G	uc002vfa.3	-	41	7188	c.6922G>C	c.(6922-6924)Gtt>Ctt	p.V2308L	FN1_uc002vfc.3_Missense_Mutation_p.V2071L|FN1_uc002vfe.3_Missense_Mutation_p.V2186L|FN1_uc002vff.3_Missense_Mutation_p.V2161L|FN1_uc002vfg.3_Missense_Mutation_p.V2127L|FN1_uc002vfh.3_Missense_Mutation_p.V2007L|FN1_uc002vfi.3_Missense_Mutation_p.V2277L|FN1_uc002vfj.3_Missense_Mutation_p.V2098L|FN1_uc002vfb.3_Missense_Mutation_p.V2096L|FN1_uc002vez.3_Missense_Mutation_p.V471L|FN1_uc010zjp.2_Missense_Mutation_p.V845L|FN1_uc002vfk.1_Intron|FN1_uc010fva.1_Non-coding_Transcript|FN1_uc010fvb.1_Non-coding_Transcript	NM_212482	NP_997647	P02751	FINC_HUMAN	Homo sapiens fibronectin 1 (FN1), transcript variant 1, mRNA.	2217	Fibrin-binding 2.|Fibronectin type-I 12.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCTCCAACGGCATAATGG	0.438													G	216232682	C	G	216232682	3	3	240	1	0	0	0	0	1	0	0	0	6011	536	19	4	531	4	FN1	2	216232682	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	36626478	216232682	26966691	11	16704											
PAX3	5077	broad.mit.edu	37	chr2	223066852	223066852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtgagaggggagagcgCgtaatcagtctggggctgat	8	7	18	8	3	2	3	1	2	1	2	2	5	2	3	1	5	1	2	1	5	1	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:223066852C>T	uc010fwo.3	-	7	1612	c.1231G>A	c.(1231-1233)Gcg>Acg	p.A411T	PAX3_uc002vmt.2_Missense_Mutation_p.A411T|PAX3_uc002vmy.2_Missense_Mutation_p.A410T|PAX3_uc002vmv.2_Missense_Mutation_p.A411T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	411					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y410Y(2)|p.A411E(1)	PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGGAGAGCGCGTAATCAGTC	0.547			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223066852	C	T	223066852	3	4	240	1	0	0	0	0	1	0	0	0	11556	768	27	1	326	1	PAX3	2	223066852	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	6834170	223066852	20132521	12	16705											
KLHL30	377007	broad.mit.edu	37	chr2	239049594	239049594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtttgcgggtgacttcGccgagagcttctctgcgcgc	4	11	13	13	5	1	2	0	1	1	1	3	3	1	2	2	1	3	2	2	1	0	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr2:239049594G>A	uc002vxr.2	+	1	306	c.199G>A	c.(199-201)Gcc>Acc	p.A67T		NM_198582	NP_940984	Q0D2K2	KLH30_HUMAN	Homo sapiens kelch-like 30 (Drosophila) (KLHL30), mRNA.	67	BTB.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGGTGACTTCGCCGAGAGCTT	0.677													A	239049594	G	A	239049594	3	1	240	1	0	0	0	0	1	0	0	0	8442	1087	38	1	201	1	KLHL30	2	239049594	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	15982742	239049594	4149779	13	16706											
ANKRD28	23243	broad.mit.edu	37	chr3	15778600	15778600	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccctgctcgatcagatacGtttacattactcagaagagg	11	11	8	11	2	2	3	2	0	0	3	4	4	3	3	1	1	4	2	1	1	4	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:15778600G>A	uc003caj.1	-	4	545	c.402C>T	c.(400-402)aaC>aaT	p.N134N	ANKRD28_uc003cai.1_5'UTR|ANKRD28_uc011avz.1_5'UTR|ANKRD28_uc003cak.1_Non-coding_Transcript|ANKRD28_uc011awa.1_Non-coding_Transcript|ANKRD28_uc003cal.1_Silent_p.N164N|ANKRD28_uc003cam.2_Silent_p.N167N	NM_015199	NP_001182028	O15084	ANR28_HUMAN	Homo sapiens ankyrin repeat domain 28 (ANKRD28), transcript variant 1, mRNA.	134						nucleoplasm	protein binding	p.T133R(1)		breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						GATCAGATACGTTTACATTAC	0.428													A	15778600	G	A	15778600	2	1	240	1	0	0	0	0	0	0	0	1	656	1136	40	1		1	ANKRD28	3	15778600	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		15778600	182243830	14	16707											
BCL6	604	broad.mit.edu	37	chr3	187443315	187443315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggctccgcaggtttcgCatttgtagggcttctctcca	5	14	10	12	2	2	0	0	0	2	0	6	0	4	0	2	3	0	6	2	3	1	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr3:187443315C>T	uc003frp.3	-	7	2268	c.1811G>A	c.(1810-1812)tGc>tAc	p.C604Y	LOC100131635_uc021xio.1_Intron|BCL6_uc011bsf.1_Missense_Mutation_p.C548Y|BCL6_uc010hza.2_Missense_Mutation_p.C502Y|BCL6_uc003frq.2_Missense_Mutation_p.C604Y	NM_001130845	NP_001697	P41182	BCL6_HUMAN	Homo sapiens B-cell CLL/lymphoma 6 (BCL6), transcript variant 2, mRNA.	604					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GCAGGTTTCGCATTTGTAGGG	0.612			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								T	187443315	C	T	187443315	3	4	240	1	0	0	0	0	1	0	0	0	1381	710	25	2	321	2	BCL6	3	187443315	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	171664715	187443315	10579115	15	16708											
TAPT1	202018	broad.mit.edu	37	chr4	16204132	16204132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctgaatagtgccaggaaAactcttaaaggaagcagggt	15	7	12	7	0	1	1	0	1	1	0	1	3	1	3	2	3	4	1	2	3	7	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr4:16204132A>G	uc010ied.1	-	2	483	c.402T>C	c.(400-402)gtT>gtC	p.V134V	TAPT1_uc011bxe.1_Silent_p.V23V|TAPT1_uc003gow.4_Intron	NM_153365	NP_699196	Q6NXT6	TAPT1_HUMAN	Homo sapiens transmembrane anterior posterior transformation 1 (TAPT1), mRNA.	134						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						GTGCCAGGAAAACTCTTAAAG	0.353													G	16204132	A	G	16204132	2	3	240	1	0	0	0	0	0	0	0	1	15651	1	1	3		3	TAPT1	4	16204132	Silent	SNP	A	TCGA-32-4719-01A-01D-1353-08		16204132	174950144	16	16709											
EGFLAM	133584	broad.mit.edu	37	chr5	38463973	38463974	+	Frame_Shift_Ins	INS	-	-	T																															ctgcacactaacaggcaataINStatgagagggctcgtgggct																										TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:38463973_38463974insT	uc003jlc.2	+	22	3285_3286	c.2939_2940insT	c.(2938-2940)tatfs	p.Y980fs	EGFLAM_uc003jlb.2_Frame_Shift_Ins_p.Y972fs|EGFLAM_uc003jle.2_Frame_Shift_Ins_p.Y738fs|EGFLAM_uc003jlf.2_Frame_Shift_Ins_p.Y338fs|EGFLAM_uc003jlg.2_Frame_Shift_Ins_p.Y115fs|EGFLAM_uc003jlh.2_Frame_Shift_Ins_p.Y62fs	NM_001205301	NP_001192230	Q63HQ2	EGFLA_HUMAN	Homo sapiens EGF-like, fibronectin type III and laminin G domains (EGFLAM), transcript variant 5, mRNA.	980	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AACAGGCAATATATGAGAGGGC	0.52													T	38463974	-	T	38463973	7	5	240	1	0	1	1	0	0	0	0	0	5005	449	16	0	3015	0	EGFLAM	5	38463973	Frame_Shift_Ins	INS	-	TCGA-32-4719-01A-01D-1353-08		38463973	142451287	17	16710											
BRD8	10902	broad.mit.edu	37	chr5	137476545	137476545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgacccttagagagatttCtcttcaggctagttaagtcc	9	13	8	11	1	2	2	1	0	1	2	5	4	4	2	3	1	0	2	3	1	3	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr5:137476545C>T	uc003lcf.1	-	25	3519	c.3464G>A	c.(3463-3465)aGa>aAa	p.R1155K	NME5_uc003lce.3_5'Flank	NM_139199	NP_631938	Q9H0E9	BRD8_HUMAN	Homo sapiens bromodomain containing 8 (BRD8), transcript variant 2, mRNA.	1155	Bromo 2.				cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AGAGAGATTTCTCTTCAGGCT	0.428													T	137476545	C	T	137476545	3	4	240	1	0	0	0	0	1	0	0	0	1515	913	32	2	251	2	BRD8	5	137476545	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	99012572	137476545	43438715	18	16711											
WDR46	9277	broad.mit.edu	37	chr6	33255194	33255194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttactcggtcacagcggcGgatacagtggagctcaatgc	9	9	13	10	3	2	0	2	0	0	0	3	2	2	2	0	4	5	2	0	4	3	2	rs141256696	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr6:33255194G>A	uc003ods.3	-	7	1174	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	WDR46_uc011dra.2_Missense_Mutation_p.R219C|WDR46_uc010juo.1_Non-coding_Transcript|PFDN6_uc003odt.1_5'Flank|PFDN6_uc010jup.1_5'Flank|PFDN6_uc021ywk.1_5'Flank	NM_005452	NP_005443	O15213	WDR46_HUMAN	Homo sapiens WD repeat domain 46 (WDR46), transcript variant 1, mRNA.	273										NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						TCACAGCGGCGGATACAGTGG	0.572													A	33255194	G	A	33255194	3	1	240	1	0	0	0	0	1	0	0	0	17401	1116	39	1	1047	1	WDR46	6	33255194	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		33255194	137859873	19	16712											
MACC1	346389	broad.mit.edu	37	chr7	20199676	20199676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttctatttctctacagAaaagaaaaggatcttccttt	13	16	4	8	0	3	2	0	0	3	2	5	3	4	3	1	1	1	0	1	1	6	7			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20199676A>G	uc003sus.4	-	4	617	c.308T>C	c.(307-309)tTc>tCc	p.F103S	MACC1_uc010kug.3_Missense_Mutation_p.F103S	NM_182762	NP_877439	Q6ZN28	MACC1_HUMAN	Homo sapiens metastasis associated in colon cancer 1 (MACC1), mRNA.	103					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTCTCTACAGAAAAGAAAAGG	0.348													G	20199676	A	G	20199676	3	3	240	1	0	0	0	0	1	0	0	0	9214	246	9	3	2262	3	MACC1	7	20199676	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		20199676	138938987	20	16713											
ABCB5	340273	broad.mit.edu	37	chr7	20767947	20767947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacattccagaaatacctcGaagaaagcacagattattgg	16	9	8	8	1	0	3	0	0	0	3	2	4	1	3	2	1	3	2	2	1	6	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:20767947G>A	uc010kuh.3	+	22	2973	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_uc003suw.4_Silent_p.S467S|ABCB5_uc003sux.1_Silent_p.S90S	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	467					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353													A	20767947	G	A	20767947	2	1	240	1	0	0	0	0	0	0	0	1	44	1045	37	1		1	ABCB5	7	20767947	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	568271	20767947	138370716	21	16714											
OR6V1	346517	broad.mit.edu	37	chr7	142750291	142750291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcaccccctttctcaatcCctttatccttaccttctgca	6	16	1	18	0	3	0	2	0	3	0	7	0	5	0	5	0	2	1	5	0	3	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr7:142750291C>T	uc011ksv.2	+	0	854	c.854C>T	c.(853-855)cCc>cTc	p.P285L		NM_001001667	NP_001001667	Q8N148	OR6V1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily V, member 1 (OR6V1), mRNA.	285					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					TTTCTCAATCCCTTTATCCTT	0.507													T	142750291	C	T	142750291	3	4	240	1	0	0	0	0	1	0	0	0	11287	623	22	2	856	2	OR6V1	7	142750291	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	121982344	142750291	16388372	22	16715											
DOCK8	81704	broad.mit.edu	37	chr9	426982	426982	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggaaaacattatccagGtgaggaaaacaaacacccaa	19	5	8	9	0	0	1	0	1	0	0	1	3	1	3	2	3	4	1	2	3	7	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:426982G>T	uc003zgf.2	+	34	4450	c.4338_splice	c.e34+1	p.Q1446_splice	DOCK8_uc022bcu.1_Splice_Site_p.Q1378_splice|DOCK8_uc010mgv.3_Splice_Site_p.Q1346_splice|DOCK8_uc010mgu.3_Splice_Site_p.Q748_splice|DOCK8_uc003zgk.2_Splice_Site_p.Q904_splice	NM_203447	NP_001180465	Q8NF50	DOCK8_HUMAN	Homo sapiens dedicator of cytokinesis 8 (DOCK8), transcript variant 1, mRNA.	1446	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		CATTATCCAGGTGAGGAAAAC	0.383													T	426982	G	T	426982	5	4	240	1	0	0	0	0	0	0	1	0	4732	1275	44	4	4473	4	DOCK8	9	426982	Splice_Site	SNP	G	TCGA-32-4719-01A-01D-1353-08		426982	140786449	23	16716											
RGS3	5998	broad.mit.edu	37	chr9	116259676	116259677	+	Frame_Shift_Ins	INS	-	-	GCTGAGAG																															gccaggcggcgactgcggccINSgctgagaggtacctgcacac																										TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:116259676_116259677insGCTGAGAG	uc004bhq.3	+	9	1042_1043	c.833_834insGCTGAGAG	c.(832-834)ccgfs	p.P278fs	RGS3_uc004bhr.3_Frame_Shift_Ins_p.P166fs|RGS3_uc004bhs.3_Frame_Shift_Ins_p.P168fs	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	278					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CGACTGCGGCCGCTGAGAGGTA	0.619													GCTGAGAG	116259677	-	GCTGAGAG	116259676	7	5	240	1	0	1	1	0	0	0	0	0	13395	652	23	0	950	0	RGS3	9	116259676	Frame_Shift_Ins	INS	-	TCGA-32-4719-01A-01D-1353-08	115832694	116259676	24953755	24	16717											
VAV2	7410	broad.mit.edu	37	chr9	136656960	136656960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaaggtctccttgtccCgtttaacttcattgatgtac	7	16	6	12	1	3	1	2	1	1	0	6	1	5	1	3	1	2	2	3	1	3	6			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr9:136656960C>T	uc004ces.3	-	12	1179	c.1133G>A	c.(1132-1134)cGg>cAg	p.R378Q	VAV2_uc004cer.3_Missense_Mutation_p.R373Q|VAV2_uc004cet.1_5'Flank	NM_001134398	NP_001127870	P52735	VAV2_HUMAN	Homo sapiens vav 2 guanine nucleotide exchange factor (VAV2), transcript variant 1, mRNA.	378					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTCCTTGTCCCGTTTAACTTC	0.488													T	136656960	C	T	136656960	3	4	240	1	0	0	0	0	1	0	0	0	17234	652	23	1	1575	1	VAV2	9	136656960	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	20397284	136656960	4556471	25	16718											
ARHGAP21	57584	broad.mit.edu	37	chr10	24873489	24873489	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgtggtggtatggaaagaAggggcctgtttgttgaagcc	9	11	16	5	0	0	2	0	1	0	1	0	3	0	3	2	5	1	3	2	5	4	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:24873489A>C	uc001isb.2	-	25	6216	c.5729T>G	c.(5728-5730)cTt>cGt	p.L1910R	ARHGAP21_uc010qdb.1_Non-coding_Transcript	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	1909					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TATGGAAAGAAGGGGCCTGTT	0.483													C	24873489	A	C	24873489	3	2	240	1	0	0	0	0	1	0	0	0	874	72	3	5	151	5	ARHGAP21	10	24873489	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		24873489	110661258	26	16719											
BTAF1	9044	broad.mit.edu	37	chr10	93786503	93786503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgggcccatcgcattGggcaggtaaaagtcaatttt	10	10	12	9	2	1	0	1	0	0	0	2	1	1	1	2	4	0	3	2	4	3	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:93786503G>A	uc001khr.3	+	35	5328	c.5230G>A	c.(5230-5232)Ggg>Agg	p.G1744R		NM_003972	NP_003963	O14981	BTAF1_HUMAN	Homo sapiens BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa (Mot1 homolog, S. cerevisiae) (BTAF1), mRNA.	1744	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity	p.G1744G(1)		central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CCATCGCATTGGGCAGGTAAA	0.463													A	93786503	G	A	93786503	3	1	240	1	0	0	0	0	1	0	0	0	1545	1348	47	2	5372	2	BTAF1	10	93786503	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	68913014	93786503	41748244	27	16720											
KNDC1	85442	broad.mit.edu	37	chr10	135020727	135020727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccctgcgacacgctggaCttcagccccctggacgagtc	7	6	11	17	3	1	0	1	0	0	0	2	4	1	2	3	2	2	2	3	2	0	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr10:135020727C>A	uc001llz.1	+	19	3667	c.3666C>A	c.(3664-3666)gaC>gaA	p.D1222E		NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1222					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		ACACGCTGGACTTCAGCCCCC	0.687													A	135020727	C	A	135020727	3	1	240	1	0	0	0	0	1	0	0	0	8484	564	20	4	3744	4	KNDC1	10	135020727	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	41234224	135020727	514020	28	16721											
LRP4	4038	broad.mit.edu	37	chr11	46894746	46894746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatccaagtttgcccgttcGatcttggcaatgtggcccca	7	11	9	14	2	1	0	0	0	1	0	3	1	2	0	5	2	1	3	5	2	2	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:46894746G>A	uc001ndn.4	-	29	4731	c.4488C>T	c.(4486-4488)atC>atT	p.I1496I	LOC100507401_uc001ndl.3_Non-coding_Transcript	NM_002334	NP_002325	O75096	LRP4_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 4 (LRP4), mRNA.	1496					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTGCCCGTTCGATCTTGGCAA	0.552													A	46894746	G	A	46894746	2	1	240	1	0	0	0	0	0	0	0	1	9029	1048	37	1		1	LRP4	11	46894746	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		46894746	88111770	29	16722											
OR4A15	81328	broad.mit.edu	37	chr11	55135883	55135883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgttcttatgctgttggCggcctggattggaggctttc	3	16	14	8	1	1	0	0	0	1	0	2	2	1	2	1	5	1	4	1	5	1	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:55135883C>T	uc010rif.2	+	0	524	c.524C>T	c.(523-525)gCg>gTg	p.A175V		NM_001005275	NP_001005275	Q8NGL6	O4A15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily A, member 15 (OR4A15), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						ATGCTGTTGGCGGCCTGGATT	0.443													T	55135883	C	T	55135883	3	4	240	1	0	0	0	0	1	0	0	0	11116	768	27	1	526	1	OR4A15	11	55135883	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	8241137	55135883	79870633	30	16723											
TECTA	7007	broad.mit.edu	37	chr11	121000704	121000704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagttttatcgaagcCgctccaggtgcggcatcatc	8	11	10	12	3	2	0	2	0	0	0	5	1	3	0	2	2	3	4	2	2	3	2	rs139132568		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr11:121000704C>T	uc010rzo.2	+	8	2725	c.2725C>T	c.(2725-2727)Cgc>Tgc	p.R909C		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	909	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		TTATCGAAGCCGCTCCAGGTG	0.562													T	121000704	C	T	121000704	3	4	240	1	0	0	0	0	1	0	0	0	15847	652	23	1	2759	1	TECTA	11	121000704	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	65864821	121000704	14005812	31	16724											
PIK3C2G	5288	broad.mit.edu	37	chr12	18699324	18699324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtgtataataatcttcGtccacaagacacagacctgg	14	11	7	9	1	1	2	0	0	1	2	3	2	2	2	2	1	0	1	2	1	5	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:18699324G>A	uc001rdt.3	+	24	3541	c.3425G>A	c.(3424-3426)cGt>cAt	p.R1142H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1183H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R961H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1142	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AATAATCTTCGTCCACAAGAC	0.408													A	18699324	G	A	18699324	3	1	240	1	0	0	0	0	1	0	0	0	11988	1145	40	1	3519	1	PIK3C2G	12	18699324	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		18699324	115152571	32	16725											
KRT79	338785	broad.mit.edu	37	chr12	53218087	53218087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtccaggttgcggttGttgtccatggacagcaccac	7	10	12	12	1	0	0	0	0	0	0	3	1	3	1	4	4	2	4	4	4	0	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:53218087G>T	uc001sbb.3	-	4	948	c.915C>A	c.(913-915)aaC>aaA	p.N305K	KRT79_uc001sba.3_Missense_Mutation_p.N76K	NM_175834	NP_787028	Q5XKE5	K2C79_HUMAN	Homo sapiens keratin 79 (KRT79), mRNA.	305	Linker 12.|Rod.					keratin filament	structural molecule activity	p.N305K(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTTGCGGTTGTTGTCCATGG	0.597													T	53218087	G	T	53218087	3	4	240	1	0	0	0	0	1	0	0	0	8550	1368	48	4	712	4	KRT79	12	53218087	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	34518763	53218087	80633808	33	16726											
SLC16A7	9194	broad.mit.edu	37	chr12	60169207	60169207	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagtgccgtcggactTgtcacaattgtggagtgtgg	6	14	13	8	2	1	0	1	0	0	0	3	2	2	2	2	3	1	0	2	3	1	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:60169207T>G	uc001sqs.3	+	4	1430	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	SLC16A7_uc001sqt.3_Silent_p.L377L|SLC16A7_uc001squ.3_Silent_p.L377L|SLC16A7_uc009zqi.3_Silent_p.L278L|SLC16A7_uc010ssi.2_Silent_p.L278L	NM_004731	NP_004722	O60669	MOT2_HUMAN	Homo sapiens solute carrier family 16, member 7 (monocarboxylic acid transporter 2) (SLC16A7), mRNA.	377						integral to plasma membrane|membrane fraction	pyruvate secondary active transmembrane transporter activity|secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(1)|large_intestine(14)|liver(2)|lung(11)|ovary(1)|skin(1)	30				GBM - Glioblastoma multiforme(3;0.0303)	Pyruvic acid(DB00119)	CCGTCGGACTTGTCACAATTG	0.438													G	60169207	T	G	60169207	2	3	240	1	0	0	0	0	0	0	0	1	14507	1799	63	5		5	SLC16A7	12	60169207	Silent	SNP	T	TCGA-32-4719-01A-01D-1353-08	6951120	60169207	73682688	34	16727											
KCTD10	83892	broad.mit.edu	37	chr12	109889455	109889455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggatcctccgcacgCgctcgatccgctcccgctcc	4	9	10	18	6	0	1	0	1	0	0	6	3	5	2	5	1	0	4	5	1	0	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr12:109889455C>T	uc001toj.1	-	6	2627	c.914G>A	c.(913-915)cGc>cAc	p.R305H	KCTD10_uc001toh.1_Non-coding_Transcript|KCTD10_uc009zvi.1_Missense_Mutation_p.R270H|KCTD10_uc001toi.1_Missense_Mutation_p.R296H|KCTD10_uc001tok.1_Missense_Mutation_p.R115H	NM_031954	NP_114160	Q9H3F6	BACD3_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 10 (KCTD10), mRNA.	296					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						CCTCCGCACGCGCTCGATCCG	0.716													T	109889455	C	T	109889455	3	4	240	1	0	0	0	0	1	0	0	0	8155	768	27	1	58	1	KCTD10	12	109889455	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	49720248	109889455	23962440	35	16728											
OR4K5	79317	broad.mit.edu	37	chr14	20389343	20389343	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcctgcctggactcttAcatcattgaaatactaattg	11	14	6	10	0	2	1	1	1	1	0	2	2	2	2	2	1	4	0	2	1	4	6			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr14:20389343A>T	uc010tkw.2	+	0	578	c.578A>T	c.(577-579)tAc>tTc	p.Y193F		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGACTCTTACATCATTGAA	0.393													T	20389343	A	T	20389343	3	4	240	1	0	0	0	0	1	0	0	0	11149	391	14	5	580	5	OR4K5	14	20389343	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		20389343	86960197	36	16729											
GABRB3	2562	broad.mit.edu	37	chr15	26825472	26825472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcaggactcacctgtggCgaagacaacattcctcgaga	12	7	11	11	2	1	2	1	0	0	2	3	6	2	3	2	2	2	1	2	2	2	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr15:26825472C>T	uc001zbb.3	-	6	947	c.844G>A	c.(844-846)Gcc>Acc	p.A282T	GABRB3_uc021sgg.1_Missense_Mutation_p.A155T|GABRB3_uc021sgh.1_Missense_Mutation_p.A141T|GABRB3_uc001zaz.3_Missense_Mutation_p.A226T|GABRB3_uc001zba.3_Missense_Mutation_p.A226T	NM_001191320	NP_001178249	P28472	GBRB3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 3 (GABRB3), transcript variant 3, mRNA.	226					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.T282N(2)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCACCTGTGGCGAAGACAACA	0.572													T	26825472	C	T	26825472	3	4	240	1	0	0	0	0	1	0	0	0	6220	768	27	1	761	1	GABRB3	15	26825472	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		26825472	75705920	37	16730											
HAGH	3029	broad.mit.edu	37	chr16	1867224	1867224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctttacacatctcatccGcagtcccttcatagaacttc	10	12	5	14	1	2	1	2	0	1	1	6	2	4	1	2	0	3	2	2	0	3	5	rs150713216		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:1867224G>A	uc002cna.3	-	5	997	c.590C>T	c.(589-591)gCg>gTg	p.A197V	HAGH_uc002cmz.3_Missense_Mutation_p.A149V|HAGH_uc010uvp.2_Missense_Mutation_p.R161W	NM_005326	NP_001035517	Q16775	GLO2_HUMAN	Homo sapiens hydroxyacylglutathione hydrolase (HAGH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	197					glutathione biosynthetic process	cytoplasm|mitochondrial matrix	hydroxyacylglutathione hydrolase activity|zinc ion binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5		Hepatocellular(780;0.00335)			Glutathione(DB00143)	CATCTCATCCGCAGTCCCTTC	0.637													A	1867224	G	A	1867224	3	1	240	1	0	0	0	0	1	0	0	0	7000	1087	38	1	352	1	HAGH	16	1867224	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08		1867224	88487529	38	16731											
PDILT	204474	broad.mit.edu	37	chr16	20376785	20376785	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttgtcaaagacgactacGttgaagttcttccccacgag	10	12	8	11	3	3	2	1	1	2	1	4	4	4	2	2	0	1	2	2	0	3	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:20376785G>A	uc002dhc.1	-	8	1417	c.1194C>T	c.(1192-1194)aaC>aaT	p.N398N		NM_174924	NP_777584	Q8N807	PDILT_HUMAN	Homo sapiens protein disulfide isomerase-like, testis expressed (PDILT), mRNA.	398	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						AGACGACTACGTTGAAGTTCT	0.448													A	20376785	G	A	20376785	2	1	240	1	0	0	0	0	0	0	0	1	11750	1136	40	1		1	PDILT	16	20376785	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	18509561	20376785	69977968	39	16732											
IL17C	27189	broad.mit.edu	37	chr16	88705562	88705562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtgccaagtgggggcaGgctttgcctgtagccctggt	5	9	17	10	1	0	0	0	0	0	0	0	1	0	0	3	5	3	3	3	5	2	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr16:88705562G>A	uc002fla.3	+	1	229	c.180G>A	c.(178-180)caG>caA	p.Q60Q		NM_013278	NP_037410	Q9P0M4	IL17C_HUMAN	Homo sapiens interleukin 17C (IL17C), mRNA.	60					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		AGTGGGGGCAGGCTTTGCCTG	0.697													A	88705562	G	A	88705562	2	1	240	1	0	0	0	0	0	0	0	1	7694	991	35	2		2	IL17C	16	88705562	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	68328777	88705562	1649191	40	16733											
RAPGEFL1	51195	broad.mit.edu	37	chr17	38340589	38340589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagaggaagagggggccggCcacatcatcaaggtgggcct	11	4	16	10	1	2	2	2	0	0	2	2	3	2	3	3	6	0	0	3	6	3	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:38340589C>T	uc010cwu.1	+	2	595	c.105C>T	c.(103-105)ggC>ggT	p.G35G		NM_016339	NP_057423	Q9UHV5	RPGFL_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF)-like 1 (RAPGEFL1), mRNA.	241	Gly-rich.				G-protein coupled receptor protein signaling pathway|nervous system development|small GTPase mediated signal transduction	intracellular|membrane fraction	guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)	15						AGGGGGCCGGCCACATCATCA	0.587													T	38340589	C	T	38340589	2	4	240	1	0	0	0	0	0	0	0	1	13137	726	26	2		2	RAPGEFL1	17	38340589	Silent	SNP	C	TCGA-32-4719-01A-01D-1353-08		38340589	42854621	41	16734											
DHX40	79665	broad.mit.edu	37	chr17	57665340	57665340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgcagtaataaaagctgCttccctggattgtgaagatc	12	12	10	7	0	0	2	0	1	0	1	2	3	1	3	1	1	3	4	1	1	4	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:57665340C>T	uc002ixn.2	+	11	1655	c.1508C>T	c.(1507-1509)gCt>gTt	p.A503V	DHX40_uc010woe.2_Missense_Mutation_p.A426V|DHX40_uc010wof.2_Missense_Mutation_p.A18V	NM_024612	NP_078888	Q8IX18	DHX40_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 40 (DHX40), transcript variant 1, mRNA.	503							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					ATAAAAGCTGCTTCCCTGGAT	0.398													T	57665340	C	T	57665340	3	4	240	1	0	0	0	0	1	0	0	0	4551	797	28	2	1554	2	DHX40	17	57665340	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	19324751	57665340	23529870	42	16735											
SCN4A	6329	broad.mit.edu	37	chr17	62019282	62019282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggacacgcccaatccGcgccaggcggatcacacgga	10	2	12	17	6	1	0	1	0	0	0	2	3	2	3	4	4	0	1	4	4	1	0			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr17:62019282G>A	uc002jds.1	-	23	4437	c.4360C>T	c.(4360-4362)Cgg>Tgg	p.R1454W		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	1454					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CGCCCAATCCGCGCCAGGCGG	0.642													A	62019282	G	A	62019282	3	1	240	1	0	0	0	0	1	0	0	0	14013	1086	38	1	1154	1	SCN4A	17	62019282	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	4353942	62019282	19175928	43	16736											
LAMA1	284217	broad.mit.edu	37	chr18	6982557	6982557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctgcgctgcacggcCgctttcccgttagaaacaag	8	8	12	13	4	0	1	0	0	0	1	1	2	1	2	2	2	4	5	2	2	3	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr18:6982557C>T	uc002knm.3	-	40	5923	c.5829G>A	c.(5827-5829)gcG>gcA	p.A1943A	LAMA1_uc010wzj.2_Silent_p.A1419A	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1943	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTGCACGGCCGCTTTCCCGT	0.547													T	6982557	C	T	6982557	2	4	240	1	0	0	0	0	0	0	0	1	8664	639	23	1		1	LAMA1	18	6982557	Silent	SNP	C	TCGA-32-4719-01A-01D-1353-08		6982557	71094691	44	16737											
ATP8B3	148229	broad.mit.edu	37	chr19	1805392	1805392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaaggacgccatcttCtttatagtggccagttcttt	8	15	8	10	1	3	1	0	1	3	0	3	2	3	2	3	2	0	1	3	2	3	7			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:1805392C>A	uc002ltw.3	-	9	1119	c.885G>T	c.(883-885)aaG>aaT	p.K295N	ATP8B3_uc002ltv.3_Missense_Mutation_p.K242N|ATP8B3_uc002ltx.3_Non-coding_Transcript|ATP8B3_uc002lty.1_Missense_Mutation_p.K43N|ATP8B3_uc002ltz.1_Missense_Mutation_p.K242N	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	295					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		ACGCCATCTTCTTTATAGTGG	0.478													A	1805392	C	A	1805392	3	1	240	1	0	0	0	0	1	0	0	0	1201	912	32	4	3145	4	ATP8B3	19	1805392	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		1805392	57323591	45	16738											
DOT1L	84444	broad.mit.edu	37	chr19	2227030	2227030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagctctgtgccggccGccgcaggcctggtgcacgtg	3	9	15	14	4	2	0	1	0	1	0	2	0	2	0	4	3	3	4	4	3	0	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:2227030G>A	uc002lvc.1	+	12	3159	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	DOT1L_uc002lvb.4_Missense_Mutation_p.A1504T	NM_032482	NP_115871	Q8TEK3	DOT1L_HUMAN	Homo sapiens DOT1-like, histone H3 methyltransferase (S. cerevisiae) (DOT1L), mRNA.	1504						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		TGTGCCGGCCGCCGCAGGCCT	0.697													A	2227030	G	A	2227030	3	1	240	1	0	0	0	0	1	0	0	0	4748	1087	38	1	4616	1	DOT1L	19	2227030	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	421638	2227030	56901953	46	16739											
OR7G3	390883	broad.mit.edu	37	chr19	9237058	9237058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttattgatgaggacatcaGaacaggcgagcttgagaata	14	10	12	5	1	1	4	1	3	0	2	1	7	1	5	0	2	2	2	0	2	4	4			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:9237058G>A	uc010xkl.2	-	0	569	c.569C>T	c.(568-570)tCt>tTt	p.S190F		NM_001001958	NP_001001958	Q8NG95	OR7G3_HUMAN	Homo sapiens olfactory receptor, family 7, subfamily G, member 3 (OR7G3), mRNA.	190					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GAGGACATCAGAACAGGCGAG	0.463													A	9237058	G	A	9237058	3	1	240	1	0	0	0	0	1	0	0	0	11300	942	33	2	372	2	OR7G3	19	9237058	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	7010028	9237058	49891925	47	16740											
GPR77	27202	broad.mit.edu	37	chr19	47844107	47844107	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggattacagcgacctctcGgaccgccctgtggactgcct	6	8	13	14	3	1	0	0	0	1	0	2	4	1	3	4	4	3	0	4	4	1	1	rs115216760	byFrequency	TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr19:47844107G>A	uc002pgk.1	+	1	122	c.51G>A	c.(49-51)tcG>tcA	p.S17S	GPR77_uc010ela.1_Silent_p.S17S|GPR77_uc021uwn.1_Silent_p.S17S	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	17					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		GCGACCTCTCGGACCGCCCTG	0.627													A	47844107	G	A	47844107	2	1	240	1	0	0	0	0	0	0	0	1	6763	1103	39	1		1	GPR77	19	47844107	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08	38607049	47844107	11284876	48	16741											
GFRA4	64096	broad.mit.edu	37	chr20	3640880	3640880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggccacccgctggcaaaGgcctgaatggcaccatctat	9	6	13	13	1	1	1	0	1	1	0	1	1	1	1	4	5	0	3	4	5	3	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr20:3640880G>T	uc002wio.3	-	3	744	c.744C>A	c.(742-744)gcC>gcA	p.A248A	GFRA4_uc002win.3_Silent_p.A218A	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	248						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CGCTGGCAAAGGCCTGAATGG	0.647													T	3640880	G	T	3640880	2	4	240	1	0	0	0	0	0	0	0	1	6406	987	35	4		4	GFRA4	20	3640880	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		3640880	59384640	49	16742											
ERG	2078	broad.mit.edu	37	chr21	39755623	39755623	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtagcgcttcccatggAccttggtcatgatgttcttg	6	13	12	10	2	2	1	1	1	1	0	3	2	3	2	2	3	1	3	2	3	1	5			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:39755623A>G	uc010gnw.3	-	11	1458	c.1163T>C	c.(1162-1164)gTc>gCc	p.V388A	ERG_uc021wjd.1_Intron|ERG_uc002yxa.3_Missense_Mutation_p.V381A|ERG_uc011aek.2_Missense_Mutation_p.V289A|ERG_uc010gnv.3_Missense_Mutation_p.V265A|ERG_uc010gnx.3_Missense_Mutation_p.V364A|ERG_uc011ael.2_Missense_Mutation_p.V388A|ERG_uc002yxb.3_Missense_Mutation_p.V364A	NM_001243428	NP_001230357	P11308	ERG_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog (avian) (ERG), transcript variant 5, mRNA.	388					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				CTTCCCATGGACCTTGGTCAT	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								G	39755623	A	G	39755623	3	3	240	1	0	0	0	0	1	0	0	0	5263	275	10	3	301	3	ERG	21	39755623	Missense_Mutation	SNP	A	TCGA-32-4719-01A-01D-1353-08		39755623	8374272	50	16743											
PRDM15	63977	broad.mit.edu	37	chr21	43230571	43230571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggacaccttggtcccgCacagctggcagctctgcgcc	5	8	13	15	2	1	0	0	0	1	0	2	1	2	1	3	4	3	4	3	4	0	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr21:43230571C>T	uc002yzq.1	-	27	3800	c.3689G>A	c.(3688-3690)tGc>tAc	p.C1230Y	PRDM15_uc002yzo.3_Missense_Mutation_p.C901Y|PRDM15_uc002yzp.3_Missense_Mutation_p.C921Y|PRDM15_uc002yzr.1_Missense_Mutation_p.C921Y	NM_022115	NP_071398	P57071	PRD15_HUMAN	Homo sapiens PR domain containing 15 (PRDM15), transcript variant 1, mRNA.	1230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTGGTCCCGCACAGCTGGCA	0.652													T	43230571	C	T	43230571	3	4	240	1	0	0	0	0	1	0	0	0	12542	710	25	2	850	2	PRDM15	21	43230571	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08	3474948	43230571	4899324	51	16744											
CELSR1	9620	broad.mit.edu	37	chr22	46931595	46931595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtagtgaatggccgcGttctggccctggtcccggtc	4	11	14	12	3	1	1	0	1	1	0	3	1	2	1	3	4	1	3	3	4	2	2			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chr22:46931595G>A	uc003bhw.1	-	0	1473	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	491	Cadherin 3.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GAATGGCCGCGTTCTGGCCCT	0.632													A	46931595	G	A	46931595	2	1	240	1	0	0	0	0	0	0	0	1	3251	1136	40	1		1	CELSR1	22	46931595	Silent	SNP	G	TCGA-32-4719-01A-01D-1353-08		46931595	4372971	52	16745											
FAM47C	442444	broad.mit.edu	37	chrX	37028050	37028050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggagtgtcccatctcCgcccagagcctcccaagatt	9	8	9	15	1	1	3	0	0	1	3	4	4	3	4	5	1	1	0	5	1	1	1	rs145081405		TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:37028050C>T	uc004ddl.2	+	0	1619	c.1567C>T	c.(1567-1569)Cgc>Tgc	p.R523C		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	523								p.R523H(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCCATCTCCGCCCAGAGCC	0.612													T	37028050	C	T	37028050	3	4	240	1	0	0	0	0	1	0	0	0	5622	652	23	1	1569	1	FAM47C	23	37028050	Missense_Mutation	SNP	C	TCGA-32-4719-01A-01D-1353-08		37028050	118242510	53	16746											
PCDH11X	27328	broad.mit.edu	37	chrX	91090711	91090711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctagtgtacaagaccGgagatgtgccactgattcga	12	9	11	9	2	1	3	1	1	0	2	2	5	1	3	2	1	3	2	2	1	4	3			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:91090711G>A	uc004efk.2	+	0	1053	c.208G>A	c.(208-210)Gga>Aga	p.G70R	PCDH11X_uc004efl.2_Missense_Mutation_p.G70R|PCDH11X_uc010nmv.2_Missense_Mutation_p.G70R|PCDH11X_uc004efm.2_Missense_Mutation_p.G70R|PCDH11X_uc004efn.2_Missense_Mutation_p.G70R|PCDH11X_uc004efo.2_Missense_Mutation_p.G70R|PCDH11X_uc004efh.2_Missense_Mutation_p.G70R|PCDH11X_uc004efj.1_Missense_Mutation_p.G70R	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	70	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTACAAGACCGGAGATGTGCC	0.458													A	91090711	G	A	91090711	3	1	240	1	0	0	0	0	1	0	0	0	11584	1117	39	1	210	1	PCDH11X	23	91090711	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	54062661	91090711	64179849	54	16747											
VSIG1	340547	broad.mit.edu	37	chrX	107301373	107301373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaccactgtggcctcccGagaacagctttccatccagt	9	8	7	17	1	0	1	0	0	0	1	3	2	3	1	6	1	2	1	6	1	1	1			TCGA-32-4719-01A-01D-1353-08	TCGA-32-4719-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	48d702ef-c24f-4784-a17b-64858c046d56	9dc64a32-a8ad-41cf-bd6f-4efb1b016ff3	g.chrX:107301373G>A	uc011msk.2	+	1	316	c.155G>A	c.(154-156)cGa>cAa	p.R52Q	VSIG1_uc004eno.3_Missense_Mutation_p.R52Q	NM_001170553	NP_001164024	Q86XK7	VSIG1_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 1 (VSIG1), transcript variant 1, mRNA.	52	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GTGGCCTCCCGAGAACAGCTT	0.468													A	107301373	G	A	107301373	3	1	240	1	0	0	0	0	1	0	0	0	17324	1058	37	1	161	1	VSIG1	23	107301373	Missense_Mutation	SNP	G	TCGA-32-4719-01A-01D-1353-08	16210662	107301373	47969187	55	16748											
MIB2	142678	broad.mit.edu	37	chr1	1563429	1563429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacacgcccctgcactccGccatctcggcgggcactgga	6	5	12	18	5	1	0	0	0	1	0	3	2	2	2	4	4	1	2	4	4	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:1563429G>A	uc001agg.3	+	13	2101	c.2056G>A	c.(2056-2058)Gcc>Acc	p.A686T	MIB2_uc001agh.3_Missense_Mutation_p.A672T|MIB2_uc001agi.3_Missense_Mutation_p.A682T|MIB2_uc001agj.3_Missense_Mutation_p.A470T|MIB2_uc001agk.3_Missense_Mutation_p.A621T|MIB2_uc001agl.2_Missense_Mutation_p.A585T|MIB2_uc001agm.3_Missense_Mutation_p.A506T|MIB2_uc010nyq.2_Missense_Mutation_p.A585T|MIB2_uc009vkh.3_Missense_Mutation_p.A435T|MIB2_uc001agn.3_Missense_Mutation_p.A261T|MIB2_uc001ago.3_5'Flank	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN	Homo sapiens mindbomb homolog 2 (Drosophila) (MIB2), transcript variant 1, mRNA.	629					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCACTCCGCCATCTCGGC	0.652													A	1563429	G	A	1563429	3	1	241	1	0	0	0	0	1	0	0	0	9642	1087	38	1	2110	1	MIB2	1	1563429	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		1563429	247687192	1	16749											
RCC1	1104	broad.mit.edu	37	chr1	28858379	28858379	+	Frame_Shift_Del	DEL	C	C	-																															ctaggccagggcgacgtgggCcagctggggctgggtgagaa																										TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:28858379delC	uc001bqb.2	+	5	537	c.138delC	c.(136-138)ggcfs	p.G46fs	RCC1_uc001bqa.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqc.2_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.2_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.2_Frame_Shift_Del_p.G77fs|RCC1_uc001bqg.2_Frame_Shift_Del_p.G46fs	NM_001269	NP_001260	P18754	RCC1_HUMAN	Homo sapiens regulator of chromosome condensation 1 (RCC1), transcript variant 3, mRNA.	46					cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACGTGGGCCAGCTGGGGC	0.607													-	28858379	C	-	28858379	7	5	241	1	0	1	0	1	0	0	0	0	13261	726	26	0	241	0	RCC1	1	28858379	Frame_Shift_Del	DEL	C	TCGA-32-5222-01A-01D-1486-08	27294950	28858379	220392242	2	16750											
BARHL2	343472	broad.mit.edu	37	chr1	91182732	91182732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctattccaaaactcgacccGctggccccttccattgtcat	8	12	5	16	2	2	0	1	0	1	0	5	1	4	0	5	1	1	1	5	1	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:91182732G>A	uc001dns.3	-	0	63	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	7						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AACTCGACCCGCTGGCCCCTT	0.562													A	91182732	G	A	91182732	2	1	241	1	0	0	0	0	0	0	0	1	1319	1078	38	1		1	BARHL2	1	91182732	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	62324353	91182732	158067889	3	16751											
FLG2	388698	broad.mit.edu	37	chr1	152325929	152325929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggcttggccatgagtttGttcttgtgattgtggtctgt	3	18	13	7	1	2	2	0	2	2	0	3	2	3	2	2	3	0	3	2	3	0	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:152325929G>A	uc001ezw.4	-	2	4406	c.4333C>T	c.(4333-4335)Caa>Taa	p.Q1445*	AK056431_uc001ezv.3_Intron	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	Homo sapiens filaggrin family member 2 (FLG2), mRNA.	1445							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGAGTTTGTTCTTGTGAT	0.522													A	152325929	G	A	152325929	4	1	241	1	0	0	0	0	0	1	0	0	5972	1386	48	2	2846	2	FLG2	1	152325929	Nonsense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	61143197	152325929	96924692	4	16752											
SPTA1	6708	broad.mit.edu	37	chr1	158632643	158632643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcaaatcggcatacCaaggactcttgccttgccct	10	10	8	13	1	2	1	1	0	1	1	3	2	2	2	3	2	4	2	3	2	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:158632643C>G	uc001fst.1	-	16	2512	c.2313G>C	c.(2311-2313)ttG>ttC	p.L771F		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	771					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCGGCATACCAAGGACTCTT	0.468													G	158632643	C	G	158632643	3	3	241	1	0	0	0	0	1	0	0	0	15212	593	21	4	5090	4	SPTA1	1	158632643	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	6306714	158632643	90617978	5	16753											
ABL2	27	broad.mit.edu	37	chr1	179084044	179084044	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttcataaaccttagggggGcatccctcaggctgttccat	9	11	10	11	0	2	0	2	0	0	0	4	0	4	0	3	4	1	4	3	4	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:179084044G>A	uc001gmj.4	-	8	1817	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	ABL2_uc010pnf.2_Silent_p.C510C|ABL2_uc010png.2_Silent_p.C489C|ABL2_uc010pnh.2_Silent_p.C489C|ABL2_uc009wxe.3_Silent_p.C489C|ABL2_uc001gmg.4_Silent_p.C495C|ABL2_uc001gmi.4_Silent_p.C495C|ABL2_uc010pne.2_Silent_p.C474C	NM_007314	NP_009298	P42684	ABL2_HUMAN	Homo sapiens v-abl Abelson murine leukemia viral oncogene homolog 2 (ABL2), transcript variant b, mRNA.	510	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.P476fs*7(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTAGGGGGGCATCCCTCAG	0.383			T	ETV6	AML								A	179084044	G	A	179084044	2	1	241	1	0	0	0	0	0	0	0	1	93	1195	42	2		2	ABL2	1	179084044	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	20451401	179084044	70166577	6	16754											
USH2A	7399	broad.mit.edu	37	chr1	216256823	216256823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatcaggtccatctttgTtataaacgaaaagaagcaat	18	10	7	6	1	2	1	1	0	1	1	3	3	3	1	1	1	2	2	1	1	9	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:216256823T>C	uc001hku.1	-	25	5660	c.5273A>G	c.(5272-5274)aAc>aGc	p.N1758S		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	1758	Laminin G-like 2.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.N1758T(2)|p.N1758N(1)		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)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)			C	216256823	T	C	216256823	3	2	241	1	0	0	0	0	1	0	0	0	17138	1725	60	3	10523	3	USH2A	1	216256823	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	37172779	216256823	32993798	7	16755											
CEP68	23177	broad.mit.edu	37	chr2	65296813	65296813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggcccctctagagccCaccagccacaggccagtgat	8	5	11	17	1	1	2	0	1	1	1	1	2	1	2	6	3	2	0	6	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:65296813C>T	uc002sdl.4	+	1	449	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	CEP68_uc002sdj.2_Missense_Mutation_p.H79Y|CEP68_uc010yqb.1_Missense_Mutation_p.H79Y|CEP68_uc002sdk.4_Missense_Mutation_p.H79Y|CEP68_uc010yqc.2_Missense_Mutation_p.H79Y|CEP68_uc010yqd.1_Missense_Mutation_p.H79Y	NM_015147	NP_055962	Q76N32	CEP68_HUMAN	Homo sapiens centrosomal protein 68kDa (CEP68), mRNA.	79					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCTAGAGCCCACCAGCCACA	0.637													T	65296813	C	T	65296813	3	4	241	1	0	0	0	0	1	0	0	0	3288	594	21	2	237	2	CEP68	2	65296813	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		65296813	177902560	8	16756											
SUCLG1	8802	broad.mit.edu	37	chr2	84652596	84652596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccacaactcctgcactCtgaagggcagagatcttctc	10	9	8	14	0	3	3	0	2	3	1	5	4	4	3	2	1	2	2	2	1	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:84652596C>A	uc002son.3	-	7	1150	c.957G>T	c.(955-957)caG>caT	p.Q319H		NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	319					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTCCTGCACTCTGAAGGGCAG	0.532													A	84652596	C	A	84652596	3	1	241	1	0	0	0	0	1	0	0	0	15460	912	32	4	91	4	SUCLG1	2	84652596	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	19355783	84652596	158546777	9	16757											
CD8B	926	broad.mit.edu	37	chr2	87073862	87073862	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaggacgccagccacCagcaggccaagggtgatggg	12	2	15	12	1	0	2	0	1	0	1	0	3	0	3	5	4	3	1	5	4	2	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:87073862C>G	uc002srw.3	-	3	587	c.528G>C	c.(526-528)ctG>ctC	p.L176L	RMND5A_uc002srs.4_Intron|CD8B_uc002srx.3_Silent_p.L176L|CD8B_uc002sry.3_Intron|CD8B_uc010fgt.3_Intron|CD8B_uc002srz.3_Silent_p.L176L|CD8B_uc010yto.2_Silent_p.L176L	NM_172213	NP_757362	P10966	CD8B_HUMAN	Homo sapiens CD8b molecule (CD8B), transcript variant 2, mRNA.	176					immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CGCCAGCCACCAGCAGGCCAA	0.532													G	87073862	C	G	87073862	2	3	241	1	0	0	0	0	0	0	0	1	3075	581	21	4		4	CD8B	2	87073862	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	2421266	87073862	156125511	10	16758											
TBC1D8	11138	broad.mit.edu	37	chr2	101670635	101670635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtacagccagccctggCggggcaccctgcccttccaa	7	6	12	16	1	0	1	0	1	0	0	1	1	1	1	5	4	4	2	5	4	2	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:101670635C>T	uc010fiv.3	-	3	652	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TBC1D8_uc010yvw.2_Missense_Mutation_p.R189H|TBC1D8_uc002tau.4_5'UTR	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN	Homo sapiens TBC1 domain family, member 8 (with GRAM domain) (TBC1D8), mRNA.	174	GRAM 1.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCAGCCCTGGCGGGGCACCCT	0.587													T	101670635	C	T	101670635	3	4	241	1	0	0	0	0	1	0	0	0	15725	768	27	1	2969	1	TBC1D8	2	101670635	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	14596773	101670635	141528738	11	16759											
IL1R2	7850	broad.mit.edu	37	chr2	102644815	102644815	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatggtctgactgtgctAtggcctcatcatcaagactt	9	12	10	10	0	4	3	3	1	1	2	4	3	4	3	1	2	1	2	1	2	2	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:102644815A>G	uc002tbm.3	+	8	1387	c.1158A>G	c.(1156-1158)ctA>ctG	p.L386L	IL1R2_uc002tbn.3_Silent_p.L386L	NM_004633	NP_775465	P27930	IL1R2_HUMAN	Homo sapiens interleukin 1 receptor, type II (IL1R2), transcript variant 1, mRNA.	386					immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	TGACTGTGCTATGGCCTCATC	0.448													G	102644815	A	G	102644815	2	3	241	1	0	0	0	0	0	0	0	1	7717	436	16	3		3	IL1R2	2	102644815	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	974180	102644815	140554558	12	16760											
IL18RAP	8807	broad.mit.edu	37	chr2	103040874	103040874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggtaacctggtacaaGgtaagagtgaattctctaaa	14	9	10	8	1	1	2	0	1	1	1	2	2	1	2	2	3	3	3	2	3	7	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:103040874G>A	uc002tbx.3	+	5	1063	c.579_splice	c.e5+1	p.K193_splice	IL18RAP_uc010fiz.3_Splice_Site_p.K51_splice	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	193	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCTGGTACAAGGTAAGAGTGA	0.413													A	103040874	G	A	103040874	2	1	241	1	0	0	0	0	0	0	0	1	7706	1014	35	2		2	IL18RAP	2	103040874	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	396059	103040874	140158499	13	16761											
IRS1	3667	broad.mit.edu	37	chr2	227660008	227660008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccccaggcctcagccaCacattctcaaaggaagcaga	13	5	8	15	0	2	1	2	0	1	1	4	2	3	2	4	2	3	2	4	2	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:227660008C>T	uc021vxn.1	-	0	3447	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V	IRS1_uc002voh.4_Silent_p.V1149V	NM_005544	NP_005535	P35568	IRS1_HUMAN	Homo sapiens insulin receptor substrate 1 (IRS1), mRNA.	1149					fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTCAGCCACACATTCTCAA	0.617													T	227660008	C	T	227660008	2	4	241	1	0	0	0	0	0	0	0	1	7898	465	17	2		2	IRS1	2	227660008	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	124619134	227660008	15539365	14	16762											
CAMK1	8536	broad.mit.edu	37	chr3	9802446	9802446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatagaagggagggtaaccGcagagcctgggcagggagaa	13	4	17	7	1	1	3	1	0	0	3	1	5	1	4	2	4	2	3	2	4	4	2	rs138951531		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:9802446G>A	uc003bst.3	-	7	824	c.639C>T	c.(637-639)tgC>tgT	p.C213C	OGG1_uc003bsl.3_Intron|OGG1_uc003bsk.3_Intron|OGG1_uc003bsm.3_Intron|OGG1_uc003bsn.3_Intron|OGG1_uc003bso.3_Intron|CAMK1_uc003bss.3_5'Flank|AX748417_uc003bsv.1_Non-coding_Transcript	NM_003656	NP_003647	Q14012	KCC1A_HUMAN	Homo sapiens calcium/calmodulin-dependent protein kinase I (CAMK1), mRNA.	213	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAGGGTAACCGCAGAGCCTGG	0.557													A	9802446	G	A	9802446	2	1	241	1	0	0	0	0	0	0	0	1	2622	1079	38	1		1	CAMK1	3	9802446	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		9802446	188219984	15	16763											
ENTPD3	956	broad.mit.edu	37	chr3	40457378	40457378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatggagtggaaaccacGggtgccctggacttaggtgg	8	7	16	10	2	0	0	0	0	0	0	0	3	0	3	3	6	2	1	3	6	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:40457378G>A	uc003ckd.4	+	6	737	c.645G>A	c.(643-645)acG>acA	p.T215T	ENTPD3_uc010hhy.3_Silent_p.T215T|ENTPD3-AS1_uc003cke.4_Intron	NM_001248	NP_001239	O75355	ENTP3_HUMAN	Homo sapiens ectonucleoside triphosphate diphosphohydrolase 3 (ENTPD3), mRNA.	215						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGGAAACCACGGGTGCCCTGG	0.537													A	40457378	G	A	40457378	2	1	241	1	0	0	0	0	0	0	0	1	5181	1103	39	1		1	ENTPD3	3	40457378	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	30654932	40457378	157565052	16	16764											
TRAK1	22906	broad.mit.edu	37	chr3	42261046	42261046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaccttcaccacctgtcGcatcctgcatccttcagatg	7	12	5	17	1	3	1	3	0	0	1	6	1	5	1	5	0	1	2	5	0	0	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:42261046G>A	uc003cky.3	+	14	2240	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	TRAK1_uc011azi.2_Missense_Mutation_p.R654H|U4_uc021wwj.1_5'Flank	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	675					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACCACCTGTCGCATCCTGCAT	0.552													A	42261046	G	A	42261046	3	1	241	1	0	0	0	0	1	0	0	0	16550	1087	38	1	2470	1	TRAK1	3	42261046	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	1803668	42261046	155761384	17	16765											
DOCK3	1795	broad.mit.edu	37	chr3	51418534	51418534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccccagtcaggtctggaCggcagcaactctacgctgtc	8	7	11	15	2	3	0	1	0	2	0	4	1	3	1	2	3	4	3	2	3	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:51418534C>T	uc011bds.2	+	52	5660	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	1879						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGTCTGGACGGCAGCAACT	0.617													T	51418534	C	T	51418534	2	4	241	1	0	0	0	0	0	0	0	1	4727	535	19	1		1	DOCK3	3	51418534	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	9157488	51418534	146603896	18	16766											
POLQ	10721	broad.mit.edu	37	chr3	121208947	121208947	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttaatataagaatcactaAatattgtgttacttttgttc	13	18	5	5	0	1	1	1	0	0	1	2	1	1	1	0	0	1	3	0	0	8	10			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:121208947A>C	uc003eee.4	-	15	2960	c.2831T>G	c.(2830-2832)tTt>tGt	p.F944C	POLQ_uc003eed.3_Missense_Mutation_p.F116C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN	Homo sapiens polymerase (DNA directed), theta (POLQ), mRNA.	944					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATCACTAAATATTGTGTT	0.289								DNA polymerases (catalytic subunits)					C	121208947	A	C	121208947	3	2	241	1	0	0	0	0	1	0	0	0	12285	14	1	5	5001	5	POLQ	3	121208947	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	69790413	121208947	76813483	19	16767											
COL6A5	256076	broad.mit.edu	37	chr3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatcaccttttgtaaagaCggaagacaatggaagtgact	16	9	10	6	1	1	4	1	1	0	3	1	6	1	6	1	2	0	1	1	2	6	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:130174391C>T	uc010htj.1	+	36	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_uc010hti.1_Non-coding_Transcript|COL6A5_uc021xdz.1_Missense_Mutation_p.T263M|COL6A5_uc010htk.1_Missense_Mutation_p.T263M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN	Homo sapiens collagen, type VI, alpha 5 (COL6A5), mRNA.	2224	Nonhelical region.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T	130174391	C	T	130174391	3	4	241	1	0	0	0	0	1	0	0	0	3733	536	19	1	6813	1	COL6A5	3	130174391	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	8965444	130174391	67848039	20	16768											
ARMC8	25852	broad.mit.edu	37	chr3	137964018	137964018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgatgaagacatccGgaagaaggtgagtctgggag	15	6	15	5	1	1	5	0	3	1	2	2	7	2	7	1	3	1	1	1	3	4	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:137964018G>A	uc003esa.1	+	12	1452	c.1085G>A	c.(1084-1086)cGg>cAg	p.R362Q	ARMC8_uc003erw.3_Missense_Mutation_p.R362Q|ARMC8_uc003erx.3_Missense_Mutation_p.R362Q|ARMC8_uc003ery.3_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN	Homo sapiens armadillo repeat containing 8 (ARMC8), transcript variant 2, mRNA.	376							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GAAGACATCCGGAAGAAGGTG	0.522													A	137964018	G	A	137964018	3	1	241	1	0	0	0	0	1	0	0	0	962	1116	39	1	1131	1	ARMC8	3	137964018	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	7789627	137964018	60058412	21	16769											
SERPINI1	5274	broad.mit.edu	37	chr3	167508226	167508226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagagccaatatgtgaTgaaaattgccaattccttgt	15	12	8	6	0	0	3	0	2	0	1	1	4	1	3	3	0	2	0	3	0	7	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:167508226T>C	uc003ffa.4	+	2	515	c.317T>C	c.(316-318)aTg>aCg	p.M106T	SERPINI1_uc003ffb.4_Missense_Mutation_p.M106T	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	106					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.V105V(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAATATGTGATGAAAATTGCC	0.318													C	167508226	T	C	167508226	3	2	241	1	0	0	0	0	1	0	0	0	14211	1464	51	3	323	3	SERPINI1	3	167508226	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	29544208	167508226	30514204	22	16770											
ZNF330	27309	broad.mit.edu	37	chr4	142155058	142155058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagaaaggattcagataCtgagtcatcagatttgttta	14	12	10	5	0	3	4	3	1	0	3	3	5	3	5	0	2	1	2	0	2	3	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:142155058C>T	uc003iiq.4	+	9	1098	c.878C>T	c.(877-879)aCt>aTt	p.T293I	ZNF330_uc011chl.2_Missense_Mutation_p.T233I	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN	Homo sapiens zinc finger protein 330 (ZNF330), mRNA.	293						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GATTCAGATACTGAGTCATCA	0.433													T	142155058	C	T	142155058	3	4	241	1	0	0	0	0	1	0	0	0	17949	565	20	2	912	2	ZNF330	4	142155058	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		142155058	48999218	23	16771											
SPOCK3	50859	broad.mit.edu	37	chr4	167656162	167656162	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcttcatcattcataatAtcgtcttcatcatcctcatc	10	17	1	13	1	9	0	7	0	2	0	12	0	10	0	1	0	0	0	1	0	2	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:167656162A>G	uc011cjq.1	-	9	1305	c.1248T>C	c.(1246-1248)gaT>gaC	p.D416D	SPOCK3_uc021xuf.1_Silent_p.D407D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003iri.1_Silent_p.D407D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cjp.2_Silent_p.D364D|SPOCK3_uc011cju.1_Silent_p.D311D|SPOCK3_uc011cjv.1_Silent_p.D309D	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	407	Asp-rich.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.D415V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		cattcataatatcgtcttcat	0.358													G	167656162	A	G	167656162	2	3	241	1	0	0	0	0	0	0	0	1	15177	446	16	3		3	SPOCK3	4	167656162	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	25501104	167656162	23498114	24	16772											
DNAH5	1767	broad.mit.edu	37	chr5	13766102	13766102	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgtaagttctgtaaaaAgttccctgcagtcatcaatt	13	13	6	9	0	3	0	2	0	1	0	4	0	4	0	2	0	2	5	2	0	6	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:13766102A>T	uc003jfd.2	-	58	10126	c.10084T>A	c.(10084-10086)Ttt>Att	p.F3362I	DNAH5_uc003jfc.2_5'UTR	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	3362	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGTAAAAAGTTCCCTGCA	0.418									Kartagener syndrome				T	13766102	A	T	13766102	3	4	241	1	0	0	0	0	1	0	0	0	4643	72	3	5	3874	5	DNAH5	5	13766102	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08		13766102	167149158	25	16773											
PCDHAC2	56136	broad.mit.edu	37	chr5	140263516	140263516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgacgctgcaggtgttcGtgctggacgagaacgacaac	10	7	14	10	5	0	2	0	1	0	1	1	5	0	3	0	2	4	4	0	2	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140263516G>A	uc003lif.2	+	0	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.V555M|PCDHAC2_uc003lid.3_Missense_Mutation_p.V555M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	569	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.697													A	140263516	G	A	140263516	3	1	241	1	0	0	0	0	1	0	0	0	11609	1145	40	1		1	PCDHAC2	5	140263516	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	126497414	140263516	40651744	26	16774											
PCDHGC5	9708	broad.mit.edu	37	chr5	140774370	140774370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcacgctcaccgtagccGtggctgacagcatccccgaa	8	7	10	16	4	2	1	2	1	0	0	3	2	3	1	4	1	2	4	4	1	2	1	rs143444747	by1000genomes	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140774370G>A	uc003lkd.2	+	0	2888	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_Missense_Mutation_p.V664M|PCDHGC5_uc003lkc.2_Intron	NM_032088	NP_114477	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 8 (PCDHGA8), transcript variant 1, mRNA.	666	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTAGCCGTGGCTGACAG	0.627													A	140774370	G	A	140774370	3	1	241	1	0	0	0	0	1	0	0	0	11647	1145	40	1		1	PCDHGC5	5	140774370	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	510854	140774370	40140890	27	16775											
OR10C1	442194	broad.mit.edu	37	chr6	29408448	29408448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctgggctcctacgggcGtatcctcgttaccatcttcc	5	12	8	16	3	1	0	0	0	1	0	6	0	5	0	5	2	2	3	5	2	3	4	rs74711365		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:29408448G>T	uc011dlp.2	+	0	733	c.656G>T	c.(655-657)cGt>cTt	p.R219L	OR11A1_uc010jrh.1_Intron	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily C, member 1 (OR10C1), mRNA.	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R219C(1)		NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582													T	29408448	G	T	29408448	3	4	241	1	0	0	0	0	1	0	0	0	10974	1145	40	4	658	4	OR10C1	6	29408448	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		29408448	141706619	28	16776											
KIF6	221458	broad.mit.edu	37	chr6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactttacgcatatccGcgccaacctctaatctactg	11	11	6	13	3	2	1	0	1	2	0	3	2	3	1	3	0	4	1	3	0	6	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:39513399G>A	uc003oot.2	-	10	1342	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN	Homo sapiens kinesin family member 6 (KIF6), mRNA.	416					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	p.G415G(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363													A	39513399	G	A	39513399	3	1	241	1	0	0	0	0	1	0	0	0	8366	1087	38	1	1249	1	KIF6	6	39513399	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	10104951	39513399	131601668	29	16777											
TMEM63B	55362	broad.mit.edu	37	chr6	44122464	44122464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcaggactcagaggtGgacggggatggggatggggc	7	6	22	6	1	1	1	1	0	0	1	1	5	1	5	0	9	2	2	0	9	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:44122464G>A	uc003owr.3	+	23	2407	c.2343G>A	c.(2341-2343)gtG>gtA	p.V781V	TMEM63B_uc003ows.3_Silent_p.V684V|TMEM63B_uc010jyz.3_Non-coding_Transcript	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Homo sapiens transmembrane protein 63B (TMEM63B), mRNA.	781						integral to membrane	nucleotide binding|protein binding	p.E780fs*28(1)|p.V781fs*27(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACTCAGAGGTGGACGGGGATG	0.607													A	44122464	G	A	44122464	2	1	241	1	0	0	0	0	0	0	0	1	16291	1335	47	2		2	TMEM63B	6	44122464	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	4609065	44122464	126992603	30	16778											
TDRD6	221400	broad.mit.edu	37	chr6	46656737	46656737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtataccggggttccaCggggacaggggatgagaact	10	6	16	9	2	0	1	0	1	0	1	1	4	1	3	3	7	2	2	3	7	3	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:46656737C>T	uc003oyj.3	+	0	1126	c.872C>T	c.(871-873)aCg>aTg	p.T291M	TDRD6_uc010jze.3_Missense_Mutation_p.T291M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	291					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGGGTTCCACGGGGACAGGG	0.637													T	46656737	C	T	46656737	3	4	241	1	0	0	0	0	1	0	0	0	15834	536	19	1	874	1	TDRD6	6	46656737	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	2534273	46656737	124458330	31	16779											
GSTA1	2938	broad.mit.edu	37	chr6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcctcaggtggacataCgggcagaaggaggatcattt	10	12	12	7	1	2	1	2	0	0	1	3	4	3	4	1	5	1	1	1	5	2	4	rs1051733		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:52659006C>T	uc003paz.3	-	4	443	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_uc021zan.1_Missense_Mutation_p.V111I	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	111	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.P110P(1)		large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393													T	52659006	C	T	52659006	3	4	241	1	0	0	0	0	1	0	0	0	6885	536	19	1	349	1	GSTA1	6	52659006	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	6002269	52659006	118456061	32	16780											
DPPA5	340168	broad.mit.edu	37	chr6	74063914	74063914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgggaactttcacccacGgcgggatatgtctacgtgcc	7	10	11	13	4	2	0	1	0	1	0	3	2	2	2	2	3	3	0	2	3	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:74063914G>A	uc003pgs.2	-	0	86	c.35C>T	c.(34-36)cCg>cTg	p.P12L		NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN	Homo sapiens developmental pluripotency associated 5 (DPPA5), mRNA.	12					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TTTCACCCACGGCGGGATATG	0.582													A	74063914	G	A	74063914	3	1	241	1	0	0	0	0	1	0	0	0	4776	1116	39	1	327	1	DPPA5	6	74063914	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	21404908	74063914	97051153	33	16781											
KIAA1009	22832	broad.mit.edu	37	chr6	84911454	84911454	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaatataaataatatttaCcattagcaagcatgccagtt	17	13	5	6	0	0	1	0	1	0	0	0	1	0	1	2	0	4	3	2	0	9	8			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:84911454C>G	uc010kbp.3	-	8	815	c.718_splice	c.e8+1	p.V240_splice	KIAA1009_uc003pkj.4_Splice_Site_p.V164_splice|KIAA1009_uc003pkk.2_Splice_Site_p.V240_splice	NM_014895	NP_055710	Q5TB80	QN1_HUMAN	Homo sapiens KIAA1009 (KIAA1009), mRNA.	240					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATAATATTTACCATTAGCAAG	0.264													G	84911454	C	G	84911454	5	3	241	1	0	0	0	0	0	0	1	0	8261	521	18	4	3572	4	KIAA1009	6	84911454	Splice_Site	SNP	C	TCGA-32-5222-01A-01D-1486-08	10847540	84911454	86203613	34	16782											
RAET1G	353091	broad.mit.edu	37	chr6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccacctggccttgaaccGcacaccaccgtggtccaggt	8	7	9	17	2	0	1	0	1	0	0	2	1	2	1	7	3	1	1	7	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:150240886G>A	uc010kii.1	-	1	220	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1G_uc003qnm.2_Non-coding_Transcript	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	Homo sapiens retinoic acid early transcript 1G (RAET1G), mRNA.	51	MHC class I alpha-1 like.				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	p.A51A(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532													A	150240886	G	A	150240886	3	1	241	1	0	0	0	0	1	0	0	0	13088	1087	38	1	868	1	RAET1G	6	150240886	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	65329432	150240886	20874181	35	16783											
HECW1	23072	broad.mit.edu	37	chr7	43484403	43484403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtccgagctggagacGgtgatcgcgtcagcctgcgg	5	8	16	12	5	1	2	1	1	0	1	3	4	2	2	3	3	3	1	3	3	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:43484403G>A	uc003tid.1	+	10	2237	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	HECW1_uc011kbi.1_Silent_p.T544T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGGAGACGGTGATCGCGT	0.672													A	43484403	G	A	43484403	2	1	241	1	0	0	0	0	0	0	0	1	7097	1103	39	1		1	HECW1	7	43484403	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		43484403	115654260	36	16784											
SEMA3C	10512	broad.mit.edu	37	chr7	80433421	80433421	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaacagcattaatacttaCaggacatattcgagcaatca	16	9	7	9	2	1	0	1	0	0	0	2	3	1	2	0	2	5	2	0	2	6	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:80433421C>G	uc011kgw.2	-	8	934	c.855_splice	c.e8+1	p.P285_splice	SEMA3C_uc003uhj.3_Splice_Site_p.P267_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	267	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTAATACTTACAGGACATATT	0.323													G	80433421	C	G	80433421	5	3	241	1	0	0	0	0	0	0	1	0	14119	492	17	4	1497	4	SEMA3C	7	80433421	Splice_Site	SNP	C	TCGA-32-5222-01A-01D-1486-08	36949018	80433421	78705242	37	16785											
PCLO	27445	broad.mit.edu	37	chr7	82585982	82585982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcttttctgacttttcAtcagcaagtgtacttgcttg	6	20	7	8	0	4	1	2	1	2	0	4	1	4	1	0	0	3	4	0	0	2	9			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:82585982A>G	uc003uhx.2	-	4	4576	c.4287T>C	c.(4285-4287)gaT>gaC	p.D1429D	PCLO_uc003uhv.2_Silent_p.D1429D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	1360					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.D1429N(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGACTTTTCATCAGCAAGTG	0.398													G	82585982	A	G	82585982	2	3	241	1	0	0	0	0	0	0	0	1	11659	214	8	3		3	PCLO	7	82585982	Silent	SNP	A	TCGA-32-5222-01A-01D-1486-08	2152561	82585982	76552681	38	16786											
ADAM28	10863	broad.mit.edu	37	chr8	24178776	24178776	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgagatcagaaagagggtaTttgagatggctaattatgtc	14	12	12	3	0	1	4	1	2	0	4	2	6	1	4	0	2	0	2	0	2	4	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:24178776T>C	uc003xdy.3	+	7	777	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	ADAM28_uc003xdx.3_Missense_Mutation_p.F232L|ADAM28_uc011kzz.2_5'UTR|ADAM28_uc011laa.2_Intron	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	232	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAAGAGGGTATTTGAGATGGC	0.323													C	24178776	T	C	24178776	3	2	241	1	0	0	0	0	1	0	0	0	246	1493	52	3	724	3	ADAM28	8	24178776	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08		24178776	122185246	39	16787											
ST18	9705	broad.mit.edu	37	chr8	53044717	53044717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatatgtgaccttggcCatcacaccctatcacaggac	11	9	7	14	0	2	2	2	2	0	0	2	3	2	3	4	2	0	0	4	2	2	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:53044717C>T	uc003xqz.2	-	16	2623	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S	ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S	NM_014682	NP_055497	O60284	ST18_HUMAN	Homo sapiens suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein) (ST18), mRNA.	823						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGACCTTGGCCATCACACCCT	0.498													T	53044717	C	T	53044717	3	4	241	1	0	0	0	0	1	0	0	0	15308	594	21	2	696	2	ST18	8	53044717	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	28865941	53044717	93319305	40	16788											
ZNF623	9831	broad.mit.edu	37	chr8	144732707	144732707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtcacagttcagaccTgattaggcaccagagagttc	10	12	10	9	0	2	3	2	1	0	2	3	4	2	3	2	1	0	4	2	1	1	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144732707T>C	uc003yzd.2	+	0	754	c.665T>C	c.(664-666)cTg>cCg	p.L222P	ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P	NM_014789	NP_055604	O75123	ZN623_HUMAN	Homo sapiens zinc finger protein 623 (ZNF623), transcript variant 1, mRNA.	222					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTTCAGACCTGATTAGGCAC	0.478													C	144732707	T	C	144732707	3	2	241	1	0	0	0	0	1	0	0	0	18148	1580	55	3	667	3	ZNF623	8	144732707	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	91687990	144732707	1631315	41	16789											
PLEC	5339	broad.mit.edu	37	chr8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcacagagcgctcacctcGctgcagctgctggtagagct	7	8	12	14	3	1	2	1	0	0	2	3	2	1	2	1	1	5	8	1	1	1	1	rs137853161		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144994985G>A	uc003zaf.1	-	31	9585	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029*	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	3139	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687													A	144994985	G	A	144994985	4	1	241	1	0	0	0	0	0	1	0	0	12129	1095	38	1	4643	1	PLEC	8	144994985	Nonsense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	262278	144994985	1369037	42	16790											
HEMGN	55363	broad.mit.edu	37	chr9	100692686	100692686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctttaggcacaataatttCgttacatgttttatgaggaa	12	15	9	5	1	0	1	0	1	0	0	1	2	0	2	0	3	1	4	0	3	6	7			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:100692686C>T	uc004axy.3	-	2	1099	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K	HEMGN_uc004axz.3_Missense_Mutation_p.E331K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN	Homo sapiens hemogen (HEMGN), transcript variant 2, mRNA.	331					cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAATTTCGTTACATGTT	0.358													T	100692686	C	T	100692686	3	4	241	1	0	0	0	0	1	0	0	0	7105	893	31	1	471	1	HEMGN	9	100692686	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		100692686	40520745	43	16791											
OR13C3	138803	broad.mit.edu	37	chr9	107298286	107298286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaggtgagctgagcacGtggaaaatgccttgcgtctt	9	10	13	9	2	2	2	1	2	1	0	2	3	2	3	1	2	4	2	1	2	2	2	rs145157195		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107298286G>A	uc004bcb.1	-	0	809	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 3 (OR13C3), mRNA.	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGCTGAGCACGTGGAAAATGC	0.428													A	107298286	G	A	107298286	3	1	241	1	0	0	0	0	1	0	0	0	11011	1145	40	1	238	1	OR13C3	9	107298286	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	6605600	107298286	33915145	44	16792											
OR13C8	138802	broad.mit.edu	37	chr9	107331551	107331551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgttctaattttgtggatgTacctgatgatcctgcttgga	7	17	10	7	1	1	2	0	2	1	0	3	4	2	4	2	2	2	3	2	2	2	6			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107331551T>C	uc011lvo.2	+	0	103	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTGTGGATGTACCTGATGAT	0.443													C	107331551	T	C	107331551	3	2	241	1	0	0	0	0	1	0	0	0	11014	1638	57	3	105	3	OR13C8	9	107331551	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	33265	107331551	33881880	45	16793											
PTEN	5728	broad.mit.edu	37	chr10	89692902	89692902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcactgtaaagctggaaaggGacgaactggtgtaatgatat	14	10	12	5	1	1	1	1	1	0	0	1	4	1	3	0	3	2	3	0	3	6	3	rs121909218		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr10:89692902G>A	uc001kfb.3	+	4	1418	c.386G>A	c.(385-387)gGa>gAa	p.G129E	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	129	Phosphatase tensin-type.		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.K128_R130del(8)|p.K128N(7)|p.G129R(7)|p.G129V(6)|p.?(5)|p.R55fs*1(5)|p.G129E(4)|p.G129*(4)|p.A121_F145del(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.K128fs*47(2)|p.G129fs*51(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.K128Q(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTGGAAAGGGACGAACTGGT	0.413		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692902	G	A	89692902	3	1	241	1	0	0	0	0	1	0	0	0	12823	1174	41	2	404	2	PTEN	10	89692902	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		89692902	45841845	46	16794											
UBQLN3	50613	broad.mit.edu	37	chr11	5529018	5529018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaagggaggggaaaGgaagcccagctctgcagagt	14	4	17	6	0	1	2	0	0	1	2	1	6	1	5	1	5	3	2	1	5	3	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:5529018G>A	uc021qcw.1	-	0	1771	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	HBG1_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc021qcv.1_5'Flank|OR51B5_uc001maq.2_5'Flank|UBQLN3_uc001may.1_Missense_Mutation_p.L591F	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN	Homo sapiens ubiquilin 3 (UBQLN3), mRNA.	591										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGGAAAGGAAGCCCAGC	0.527													A	5529018	G	A	5529018	3	1	241	1	0	0	0	0	1	0	0	0	17000	1000	35	2	200	2	UBQLN3	11	5529018	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		5529018	129477498	47	16795											
PAMR1	25891	broad.mit.edu	37	chr11	35454046	35454046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggagatgctcgtcccGggaaggacacagccgcgatg	9	5	15	12	4	1	1	1	0	0	1	3	5	2	3	2	3	2	2	2	3	1	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:35454046G>A	uc001mwf.3	-	11	2115	c.2072C>T	c.(2071-2073)cCg>cTg	p.P691L	PAMR1_uc001mwg.3_Missense_Mutation_p.P674L|PAMR1_uc010rew.2_Missense_Mutation_p.P563L|PAMR1_uc010rex.2_Missense_Mutation_p.P634L	NM_015430	NP_056245	Q6UXH9	PAMR1_HUMAN	Homo sapiens peptidase domain containing associated with muscle regeneration 1 (PAMR1), transcript variant 1, mRNA.	674	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTCGTCCCGGGAAGGACAC	0.567													A	35454046	G	A	35454046	3	1	241	1	0	0	0	0	1	0	0	0	11489	1116	39	1	145	1	PAMR1	11	35454046	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	29925028	35454046	99552470	48	16796											
ALX4	60529	broad.mit.edu	37	chr11	44331575	44331575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtccatggcagcggccGgcgactcgcagtaagagacg	9	4	16	12	6	0	1	0	0	0	1	2	3	1	1	2	4	1	3	2	4	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:44331575G>A	uc001myb.3	-	0	142	c.38C>T	c.(37-39)cCg>cTg	p.P13L		NM_021926	NP_068745	Q9H161	ALX4_HUMAN	Homo sapiens ALX homeobox 4 (ALX4), mRNA.	13					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCAGCGGCCGGCGACTCGCA	0.682													A	44331575	G	A	44331575	3	1	241	1	0	0	0	0	1	0	0	0	558	1116	39	1	1213	1	ALX4	11	44331575	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	8877529	44331575	90674941	49	16797											
SLC22A11	55867	broad.mit.edu	37	chr11	64335161	64335161	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggccctcttcggggcCgtggacttcctgggccgggc	2	8	15	16	3	1	0	0	0	1	0	4	1	3	1	5	6	0	0	5	6	0	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:64335161C>T	uc001oai.3	+	6	1523	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	SLC22A11_uc009ypq.3_Intron	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN	Homo sapiens solute carrier family 22 (organic anion/urate transporter), member 11 (SLC22A11), mRNA.	383					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	p.G382R(1)		breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	TCTTCGGGGCCGTGGACTTCC	0.642													T	64335161	C	T	64335161	2	4	241	1	0	0	0	0	0	0	0	1	14536	639	23	1		1	SLC22A11	11	64335161	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	20003586	64335161	70671355	50	16798											
PIH1D2	120379	broad.mit.edu	37	chr11	111943820	111943820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaacttctcatagccctcagGgtcactctgagctagatcat	11	11	7	12	0	5	2	4	1	2	1	6	2	5	2	1	1	3	1	1	1	3	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:111943820G>A	uc001pmp.4	-	1	302	c.79C>T	c.(79-81)Cct>Tct	p.P27S	PIH1D2_uc009yyl.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.4_5'Flank|C11orf57_uc001pmr.4_5'Flank|C11orf57_uc001pmt.4_5'Flank|C11orf57_uc001pmv.4_5'Flank|C11orf57_uc001pms.4_5'Flank	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN	Homo sapiens PIH1 domain containing 2 (PIH1D2), transcript variant 1, mRNA.	27										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TAGCCCTCAGGGTCACTCTGA	0.463													A	111943820	G	A	111943820	3	1	241	1	0	0	0	0	1	0	0	0	11984	1232	43	2	946	2	PIH1D2	11	111943820	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	47608659	111943820	23062696	51	16799											
ST14	6768	broad.mit.edu	37	chr11	130064098	130064098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccactcctcccagaaCgtcctgctcatcacactgat	9	10	4	18	1	2	2	2	1	0	1	6	2	6	2	5	0	2	1	5	0	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:130064098C>A	uc001qfw.3	+	7	1123	c.930C>A	c.(928-930)aaC>aaA	p.N310K	ST14_uc010sca.1_Missense_Mutation_p.N120K	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN	Homo sapiens suppression of tumorigenicity 14 (colon carcinoma) (ST14), mRNA.	310	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCTCCCAGAACGTCCTGCTCA	0.587													A	130064098	C	A	130064098	3	1	241	1	0	0	0	0	1	0	0	0	15307	535	19	4	960	4	ST14	11	130064098	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	18120278	130064098	4942418	52	16800											
C3AR1	719	broad.mit.edu	37	chr12	8212173	8212173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcattcatttctccaggCggctgaacaatgttttcaag	10	14	7	10	1	4	1	3	1	1	0	5	1	4	1	1	2	1	2	1	2	4	5	rs138822577		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:8212173C>T	uc001qtv.1	-	1	701	c.609G>A	c.(607-609)ccG>ccA	p.P203P	C3AR1_uc021quj.1_Silent_p.P203P	NM_004054	NP_004045	Q16581	C3AR_HUMAN	Homo sapiens complement component 3a receptor 1 (C3AR1), mRNA.	203				P -> R (in Ref. 1; AAC50374).	blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTTCTCCAGGCGGCTGAACAA	0.408													T	8212173	C	T	8212173	2	4	241	1	0	0	0	0	0	0	0	1	2226	755	27	1		1	C3AR1	12	8212173	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		8212173	125639722	53	16801											
KRT8	3856	broad.mit.edu	37	chr12	53292563	53292563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtactcacgcagctgccgcgCcatgtcctgcttggcccgct	4	9	11	17	4	1	0	1	0	0	0	2	0	2	0	4	1	4	5	4	1	1	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:53292563C>T	uc009zmk.1	-	6	1206	c.1186G>A	c.(1186-1188)Gcg>Acg	p.A396T	KRT8_uc001sbd.2_Missense_Mutation_p.A368T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	NM_002273	NP_002264	P05787	K2C8_HUMAN	Homo sapiens keratin 8 (KRT8), transcript variant 2, mRNA.	368	Coil 2.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCTGCCGCGCCATGTCCTGC	0.637													T	53292563	C	T	53292563	3	4	241	1	0	0	0	0	1	0	0	0	8551	739	26	2	361	2	KRT8	12	53292563	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	45080390	53292563	80559332	54	16802											
RPS26	6231	broad.mit.edu	37	chr12	56436346	56436346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgaaacatagtggaggcCgcagcagtcagggacatttc	12	8	12	9	2	1	0	1	0	0	0	3	3	1	2	1	3	2	2	1	3	2	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:56436346C>T	uc001sjf.3	+	1	406	c.141C>T	c.(139-141)gcC>gcT	p.A47A		NM_001029	NP_001020	P62854	RS26_HUMAN	Homo sapiens ribosomal protein S26 (RPS26), mRNA.	47					endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TAGTGGAGGCCGCAGCAGTCA	0.557													T	56436346	C	T	56436346	2	4	241	1	0	0	0	0	0	0	0	1	13728	639	23	1		1	RPS26	12	56436346	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	3143783	56436346	77415549	55	16803											
TSPAN8	7103	broad.mit.edu	37	chr12	71523126	71523126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctcaataactgccagTccaaatgatattccaataac	15	11	4	11	0	1	1	1	1	0	0	3	1	3	1	4	0	4	1	4	0	7	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:71523126T>C	uc009zrt.1	-	6	807	c.645A>G	c.(643-645)ggA>ggG	p.G215G	TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	NM_004616	NP_004607	P19075	TSN8_HUMAN	Homo sapiens tetraspanin 8 (TSPAN8), mRNA.	215					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TAACTGCCAGTCCAAATGATA	0.274													C	71523126	T	C	71523126	2	2	241	1	0	0	0	0	0	0	0	1	16754	1654	58	3		3	TSPAN8	12	71523126	Silent	SNP	T	TCGA-32-5222-01A-01D-1486-08	15086780	71523126	62328769	56	16804											
CCDC63	160762	broad.mit.edu	37	chr12	111336859	111336859	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaagataaactgtgaCgccaccaagatcctggtgca	14	8	9	10	1	1	4	1	1	0	3	2	4	2	4	3	1	2	1	3	1	5	2	rs115748204	by1000genomes	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:111336859C>T	uc001trv.1	+	9	1467	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													T	111336859	C	T	111336859	2	4	241	1	0	0	0	0	0	0	0	1	2862	535	19	1		1	CCDC63	12	111336859	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	39813733	111336859	22515036	57	16805											
USP12	219333	broad.mit.edu	37	chr13	27664021	27664021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaagctctaaaattaccGtttgtgtgcttcctgtttgc	9	16	7	9	1	1	0	0	0	1	0	2	0	2	0	2	0	4	4	2	0	5	6			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:27664021G>A	uc001uqy.3	-	6	991	c.734_splice	c.e6+1	p.R245_splice		NM_182488	NP_872294	O75317	UBP12_HUMAN	Homo sapiens ubiquitin specific peptidase 12 (USP12), mRNA.	245					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353													A	27664021	G	A	27664021	3	1	241	1	0	0	0	0	1	0	0	0	17145	1159	40	1	395	1	USP12	13	27664021	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08		27664021	87505857	58	16806											
RCBTB2	1102	broad.mit.edu	37	chr13	49070369	49070369	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagagcagagcgatggcAttctcctcgcagatgccttg	8	8	13	12	3	1	3	0	0	1	3	3	5	1	3	3	1	3	3	3	1	0	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:49070369A>T	uc010tgg.2	-	12	1779	c.1488T>A	c.(1486-1488)aaT>aaA	p.N496K	RCBTB2_uc001vci.3_Missense_Mutation_p.N467K|RCBTB2_uc010tgh.2_Missense_Mutation_p.N217K|RCBTB2_uc001vch.3_Missense_Mutation_p.N491K|RCBTB2_uc001vcj.3_Missense_Mutation_p.N443K	NM_001268	NP_001259	O95199	RCBT2_HUMAN	Homo sapiens regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2 (RCBTB2), mRNA.	491	BTB 2.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GAGCGATGGCATTCTCCTCGC	0.502													T	49070369	A	T	49070369	3	4	241	1	0	0	0	0	1	0	0	0	13260	214	8	5	190	5	RCBTB2	13	49070369	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	21406348	49070369	66099509	59	16807											
PCDH17	27253	broad.mit.edu	37	chr13	58207833	58207833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgggactctggcaagaacGgacagctgcagtgtcgggtc	9	6	15	11	3	1	1	0	0	1	1	3	3	1	3	1	4	3	3	1	4	2	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58207833G>A	uc001vhq.1	+	0	2045	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	PCDH17_uc010aec.1_Missense_Mutation_p.G385R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	385	Cadherin 4.|Gly-rich.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGCAAGAACGGACAGCTGCA	0.721													A	58207833	G	A	58207833	3	1	241	1	0	0	0	0	1	0	0	0	11588	1117	39	1	1155	1	PCDH17	13	58207833	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	9137464	58207833	56962045	60	16808											
PCDH17	27253	broad.mit.edu	37	chr13	58208729	58208729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagctcatcatccgctcGgtgagcggatcccttcccga	7	8	10	16	4	2	1	2	1	0	0	6	3	5	2	4	2	2	2	4	2	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58208729G>A	uc001vhq.1	+	0	2941	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S	PCDH17_uc010aec.1_Silent_p.S683S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	683	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCATCCGCTCGGTGAGCGGAT	0.632													A	58208729	G	A	58208729	2	1	241	1	0	0	0	0	0	0	0	1	11588	1103	39	1		1	PCDH17	13	58208729	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	896	58208729	56961149	61	16809											
AHNAK2	113146	broad.mit.edu	37	chr14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggaggggagactcaCgtcggcctccactttgggtg	6	9	15	11	2	1	1	1	0	0	1	3	3	2	2	2	5	1	1	2	5	0	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr14:105418199C>T	uc010axc.1	-	6	3709	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	1197						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCACGTCGGCCTCC	0.617													T	105418199	C	T	105418199	3	4	241	1	0	0	0	0	1	0	0	0	415	536	19	1	13802	1	AHNAK2	14	105418199	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		105418199	1931341	62	16810											
MAP1A	4130	broad.mit.edu	37	chr15	43818898	43818898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagcaagaagtacccctgCgggaacacgcaacccggagc	13	3	12	13	3	0	2	0	1	0	1	0	4	0	4	3	2	6	3	3	2	5	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:43818898C>T	uc001zrt.3	+	3	5694	c.5227C>T	c.(5227-5229)Cgg>Tgg	p.R1743W		NM_002373	NP_002364	P78559	MAP1A_HUMAN	Homo sapiens microtubule-associated protein 1A (MAP1A), mRNA.	1743						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTACCCCTGCGGGAACACGC	0.597													T	43818898	C	T	43818898	3	4	241	1	0	0	0	0	1	0	0	0	9302	759	27	1	5229	1	MAP1A	15	43818898	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		43818898	58712494	63	16811											
BNC1	646	broad.mit.edu	37	chr15	83935703	83935703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagtaggatttttaggCgaacggggatggcctgggtc	7	10	17	7	2	0	0	0	0	0	0	2	3	1	2	2	7	1	1	2	7	3	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:83935703C>T	uc002bjt.1	-	2	408	c.320G>A	c.(319-321)cGc>cAc	p.R107H	BNC1_uc010uos.1_Missense_Mutation_p.R95H	NM_001717	NP_001708	Q01954	BNC1_HUMAN	Homo sapiens basonuclin 1 (BNC1), mRNA.	107					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R107C(2)|p.V106I(1)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GATTTTTAGGCGAACGGGGAT	0.507													T	83935703	C	T	83935703	3	4	241	1	0	0	0	0	1	0	0	0	1480	768	27	1	2676	1	BNC1	15	83935703	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	40116805	83935703	18595689	64	16812											
PCSK6	5046	broad.mit.edu	37	chr15	101929721	101929721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgggggcagagactgAggtcccagtgtggccatcgg	8	6	16	11	1	0	2	0	1	0	1	2	3	1	2	3	5	0	1	3	5	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:101929721A>G	uc002bxa.2	-	9	1569	c.1255T>C	c.(1255-1257)Tca>Cca	p.S419P	PCSK6_uc010bpd.3_Missense_Mutation_p.S290P|PCSK6_uc002bwy.3_Missense_Mutation_p.S419P|PCSK6_uc010bpe.3_Missense_Mutation_p.S416P|PCSK6_uc002bxb.2_Missense_Mutation_p.S419P|PCSK6_uc002bxc.1_Missense_Mutation_p.S419P|PCSK6_uc002bxd.1_Missense_Mutation_p.S419P|PCSK6_uc002bxe.3_Missense_Mutation_p.S419P|PCSK6_uc002bxg.1_Missense_Mutation_p.S419P	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	420	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	p.T418T(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGAGACTGAGGTCCCAGTG	0.517													G	101929721	A	G	101929721	3	3	241	1	0	0	0	0	1	0	0	0	11680	304	11	3	2186	3	PCSK6	15	101929721	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08	17994018	101929721	601671	65	16813											
TBL3	10607	broad.mit.edu	37	chr16	2025082	2025082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggccttcagcgccgaCggccacaccatgctcaggtc	7	7	10	17	3	3	0	3	0	0	0	4	1	3	0	4	3	2	1	4	3	0	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:2025082C>T	uc002cnu.1	+	6	720	c.618C>T	c.(616-618)gaC>gaT	p.D206D	TCRBV20S1_uc021tak.1_Intron|TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_5'UTR|TBL3_uc002cnw.1_5'Flank	NM_006453	NP_006444	Q12788	TBL3_HUMAN	Homo sapiens transducin (beta)-like 3 (TBL3), mRNA.	206					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652													T	2025082	C	T	2025082	2	4	241	1	0	0	0	0	0	0	0	1	15743	535	19	1		1	TBL3	16	2025082	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		2025082	88329671	66	16814											
CCDC113	29070	broad.mit.edu	37	chr16	58287944	58287944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcccggacaggtatggacCgtggggtaggcctgactgcc	8	7	15	11	2	0	1	0	1	0	0	1	3	1	3	4	6	1	2	4	6	3	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:58287944C>T	uc002ene.3	+	2	350	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	CCDC113_uc010vid.2_Intron	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN	Homo sapiens coiled-coil domain containing 113 (CCDC113), transcript variant 1, mRNA.	91						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGGTATGGACCGTGGGGTAGG	0.507													T	58287944	C	T	58287944	3	4	241	1	0	0	0	0	1	0	0	0	2776	652	23	1	281	1	CCDC113	16	58287944	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	56262862	58287944	32066809	67	16815											
FLCN	201163	broad.mit.edu	37	chr17	17119805	17119805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgcggacgcagcccaCgggaagcatggtctgaggag	10	5	17	9	3	1	2	0	2	1	0	1	6	1	5	1	4	3	2	1	4	1	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:17119805C>T	uc002gra.4	-	10	1693	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	PLD6_uc010cpn.3_Non-coding_Transcript	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN	Homo sapiens folliculin (FLCN), transcript variant 1, mRNA.	397					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGCAGCCCACGGGAAGCATG	0.637									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				T	17119805	C	T	17119805	3	4	241	1	0	0	0	0	1	0	0	0	5970	536	19	1	566	1	FLCN	17	17119805	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		17119805	64075405	68	16816											
KRT37	8688	broad.mit.edu	37	chr17	39578590	39578590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggcctcgtactgagcccGcatctcccccaacaccctgt	7	8	7	19	2	1	1	0	1	1	0	3	1	1	1	5	1	3	2	5	1	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:39578590G>A	uc002hwp.1	-	3	876	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	277	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582													A	39578590	G	A	39578590	3	1	241	1	0	0	0	0	1	0	0	0	8532	1086	38	1	536	1	KRT37	17	39578590	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	22458785	39578590	41616620	69	16817											
G6PC	2538	broad.mit.edu	37	chr17	41063121	41063121	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgagcagccagaatgggTccacattgacaccacaccct	11	6	10	14	1	0	2	0	1	0	1	1	3	1	2	4	1	3	1	4	1	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:41063121T>C	uc002icb.1	+	4	831	c.752T>C	c.(751-753)gTc>gCc	p.V251A	G6PC_uc010whf.1_3'UTR	NM_000151	NP_000142	P35575	G6PC_HUMAN	Homo sapiens glucose-6-phosphatase, catalytic subunit (G6PC), mRNA.	251					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.W250*(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGAATGGGTCCACATTGAC	0.582													C	41063121	T	C	41063121	3	2	241	1	0	0	0	0	1	0	0	0	6195	1667	58	3	770	3	G6PC	17	41063121	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1484531	41063121	40132089	70	16818											
C17orf57	124989	broad.mit.edu	37	chr17	45471419	45471419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtgaattttaaagaattCattgatactatgatgagcaa	18	13	7	3	0	1	5	1	4	0	1	1	5	1	5	0	0	2	1	0	0	8	6			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:45471419C>T	uc002iln.3	+	15	2186	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	C17orf57_uc002ilm.3_Silent_p.F489F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN	Homo sapiens chromosome 17 open reading frame 57 (C17orf57), transcript variant A, mRNA.	585							calcium ion binding	p.F585L(2)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(11)|pancreas(1)|skin(5)|stomach(3)	36						TTAAAGAATTCATTGATACTA	0.269													T	45471419	C	T	45471419	2	4	241	1	0	0	0	0	0	0	0	1	1881	825	29	2		2	C17orf57	17	45471419	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	4408298	45471419	35723791	71	16819											
GPR142	350383	broad.mit.edu	37	chr17	72368116	72368116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgctcacggttgacCgctacactgccctgtgccac	6	9	8	18	2	1	1	1	1	0	0	2	1	2	1	5	1	4	3	5	1	1	2	rs149042051	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:72368116C>T	uc021ucp.1	+	3	766	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	GPR142_uc010wqy.2_Missense_Mutation_p.R256C	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	256						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	p.R256C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGGTTGACCGCTACACTGC	0.687													T	72368116	C	T	72368116	3	4	241	1	0	0	0	0	1	0	0	0	6704	652	23	1	780	1	GPR142	17	72368116	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	26896697	72368116	8827094	72	16820											
CDH7	1005	broad.mit.edu	37	chr18	63547824	63547824	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgagacaccaagacccggagGgatgtgactccagaaattca	14	5	11	11	2	1	4	1	1	0	3	2	7	2	6	3	2	0	0	3	2	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr18:63547824G>A	uc002lkb.3	+	11	2478	c.2052G>A	c.(2050-2052)agG>agA	p.R684R	CDH7_uc002ljz.3_Silent_p.R684R	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	684					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGACCCGGAGGGATGTGACTC	0.473													A	63547824	G	A	63547824	2	1	241	1	0	0	0	0	0	0	0	1	3145	1223	43	2		2	CDH7	18	63547824	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08		63547824	14529424	73	16821											
MED16	10025	broad.mit.edu	37	chr19	868170	868170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagtggtgtgtggactgCgggcccagctggacaaaggc	8	6	19	8	1	0	1	0	0	0	1	0	4	0	3	1	6	2	1	1	6	1	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:868170C>T	uc002lqd.1	-	15	2716	c.2565G>A	c.(2563-2565)ccG>ccA	p.P855P	MED16_uc010drw.2_3'UTR|MED16_uc002lqe.3_3'UTR|MED16_uc002lqf.3_3'UTR|MED16_uc021umc.1_Non-coding_Transcript	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN	Homo sapiens mediator complex subunit 16 (MED16), mRNA.	855					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GTGTGGACTGCGGGCCCAGCT	0.677													T	868170	C	T	868170	2	4	241	1	0	0	0	0	0	0	0	1	9509	755	27	1		1	MED16	19	868170	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08		868170	58260813	74	16822											
CCDC124	115098	broad.mit.edu	37	chr19	18054397	18054397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaggaagcccagctgcCgcggctcaaacaagagaacc	12	5	11	13	2	1	2	1	1	0	1	1	4	1	3	3	2	5	2	3	2	4	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18054397C>T	uc010xpz.2	+	4	590	c.545C>T	c.(544-546)cCg>cTg	p.P182L	CCDC124_uc002nhs.3_Missense_Mutation_p.P182L	NM_001136203	NP_612451	Q96CT7	CC124_HUMAN	Homo sapiens coiled-coil domain containing 124 (CCDC124), transcript variant 2, mRNA.	182							DNA binding			central_nervous_system(1)|kidney(2)	3						GCCCAGCTGCCGCGGCTCAAA	0.637													T	18054397	C	T	18054397	3	4	241	1	0	0	0	0	1	0	0	0	2786	652	23	1	559	1	CCDC124	19	18054397	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	17186227	18054397	41074586	75	16823											
UPF1	5976	broad.mit.edu	37	chr19	18961017	18961017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcctcggcttcatcccgGccaaagctgactcagtggtg	6	10	10	15	2	2	1	2	1	0	0	6	1	5	1	4	3	1	2	4	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18961017G>A	uc002nkg.3	+	3	870	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	UPF1_uc002nkf.3_Missense_Mutation_p.A199T	NM_002911	NP_002902	Q92900	RENT1_HUMAN	Homo sapiens UPF1 regulator of nonsense transcripts homolog (yeast) (UPF1), mRNA.	199	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCATCCCGGCCAAAGCTGA	0.612													A	18961017	G	A	18961017	3	1	241	1	0	0	0	0	1	0	0	0	17105	1203	42	2	609	2	UPF1	19	18961017	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	906620	18961017	40167966	76	16824											
PRODH2	58510	broad.mit.edu	37	chr19	36303168	36303168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggttcccctcataccaCgcctcactgcccagccagca	8	6	7	20	2	2	0	2	0	0	0	3	1	3	0	7	1	4	2	7	1	1	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:36303168C>T	uc002obx.1	-	3	624	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 2 (PRODH2), mRNA.	202					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCATACCACGCCTCACTGC	0.672													T	36303168	C	T	36303168	2	4	241	1	0	0	0	0	0	0	0	1	12635	523	19	1		1	PRODH2	19	36303168	Silent	SNP	C	TCGA-32-5222-01A-01D-1486-08	17342151	36303168	22825815	77	16825											
RYR1	6261	broad.mit.edu	37	chr19	38991601	38991601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacgtggggttcctgcccGacatgagggcagccgcctcg	5	7	16	13	4	0	1	0	1	0	0	2	3	1	2	4	4	2	2	4	4	0	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:38991601G>A	uc002oit.3	+	46	7715	c.7585G>A	c.(7585-7587)Gac>Aac	p.D2529N	RYR1_uc002oiu.3_Missense_Mutation_p.D2529N|RYR1_uc002oiv.1_5'UTR	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2529	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	p.D2529E(1)		NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GTTCCTGCCCGACATGAGGGC	0.642													A	38991601	G	A	38991601	3	1	241	1	0	0	0	0	1	0	0	0	13859	1058	37	1	7771	1	RYR1	19	38991601	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	2688433	38991601	20137382	78	16826											
FCGBP	8857	broad.mit.edu	37	chr19	40384053	40384053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtcgcactggcagcccTccacacaggggccctcacat	7	5	10	19	3	1	0	1	0	0	0	3	0	2	0	4	3	1	2	4	3	0	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40384053T>C	uc002omp.4	-	20	9565	c.9557A>G	c.(9556-9558)gAg>gGg	p.E3186G		NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Homo sapiens Fc fragment of IgG binding protein (FCGBP), mRNA.	3186	TIL 7.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGCAGCCCTCCACACAGGG	0.652													C	40384053	T	C	40384053	3	2	241	1	0	0	0	0	1	0	0	0	5827	1551	54	3	6724	3	FCGBP	19	40384053	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1392452	40384053	18744930	79	16827											
CNTD2	79935	broad.mit.edu	37	chr19	40730663	40730663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtctaccaccagggcgCgcatctccggggtcacagcg	7	5	13	16	4	3	0	1	0	2	0	4	0	3	0	4	3	2	1	4	3	1	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40730663C>T	uc010xvi.2	-	1	372	c.323G>A	c.(322-324)cGc>cAc	p.R108H	CNTD2_uc002ond.3_Intron	NM_024877	NP_079153	B4DX65	B4DX65_HUMAN	Homo sapiens cyclin N-terminal domain containing 2 (CNTD2), transcript variant 2, mRNA.	108					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						CACCAGGGCGCGCATCTCCGG	0.682													T	40730663	C	T	40730663	3	4	241	1	0	0	0	0	1	0	0	0	3667	768	27	1	616	1	CNTD2	19	40730663	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	346610	40730663	18398320	80	16828											
LYPD4	147719	broad.mit.edu	37	chr19	42342041	42342041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggtggaactgtaacacGtagaagcagccaaggggcaa	15	6	13	7	1	0	1	0	0	0	1	0	2	0	2	1	4	4	4	1	4	7	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:42342041G>A	uc002orp.1	-	3	1490	c.506C>T	c.(505-507)aCg>aTg	p.T169M	LYPD4_uc002orq.1_Missense_Mutation_p.T134M	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN	Homo sapiens LY6/PLAUR domain containing 4 (LYPD4), mRNA.	169	UPAR/Ly6.					anchored to membrane|plasma membrane		p.T169T(1)		breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACTGTAACACGTAGAAGCAGC	0.488													A	42342041	G	A	42342041	3	1	241	1	0	0	0	0	1	0	0	0	9183	1145	40	1	242	1	LYPD4	19	42342041	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	1611378	42342041	16786942	81	16829											
PHLDB3	653583	broad.mit.edu	37	chr19	44008217	44008217	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggacctccacgtcgcaTtccgggaccagcggcggcgg	5	5	16	15	6	0	0	0	0	0	0	3	2	2	2	4	6	1	2	4	6	0	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:44008217T>G	uc002own.4	-	1	313	c.54A>C	c.(52-54)gaA>gaC	p.E18D	PHLDB3_uc002owo.3_Missense_Mutation_p.E18D	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 3 (PHLDB3), mRNA.	18										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCACGTCGCATTCCGGGACCA	0.736													G	44008217	T	G	44008217	3	3	241	1	0	0	0	0	1	0	0	0	11930	1490	52	5	1928	5	PHLDB3	19	44008217	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	1666176	44008217	15120766	82	16830											
KLK15	55554	broad.mit.edu	37	chr19	51330300	51330300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcagcaacatgatgtcGttgcggtggctgcgcgcttc	6	9	15	11	5	0	1	0	1	0	0	2	1	0	1	0	3	4	5	0	3	1	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:51330300G>A	uc002ptl.3	-	2	346	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_uc002ptm.3_Silent_p.N105N|KLK15_uc002ptn.3_Silent_p.N105N|KLK15_uc002pto.3_Silent_p.N104N|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Silent_p.N104N|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687													A	51330300	G	A	51330300	2	1	241	1	0	0	0	0	0	0	0	1	8461	1136	40	1		1	KLK15	19	51330300	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	7322083	51330300	7798683	83	16831											
SIGLEC6	946	broad.mit.edu	37	chr19	52034114	52034114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagaagatggggggcGtcccctgctcacagacccag	9	5	14	13	1	1	3	1	0	0	3	3	4	3	3	4	4	1	1	4	4	1	0			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:52034114G>A	uc002pwy.3	-	2	735	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SIGLEC6_uc002pwz.3_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.2_Missense_Mutation_p.T140M|SIGLEC6_uc010ydc.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.3_Missense_Mutation_p.T176M|SIGLEC6_uc010eoz.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epa.2_Missense_Mutation_p.T165M|SIGLEC6_uc010epb.2_Missense_Mutation_p.T129M	NM_001245	NP_001236	O43699	SIGL6_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 6 (SIGLEC6), transcript variant 1, mRNA.	176	Ig-like C2-type 1.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GATGGGGGGCGTCCCCTGCTC	0.667													A	52034114	G	A	52034114	3	1	241	1	0	0	0	0	1	0	0	0	14406	1145	40	1	891	1	SIGLEC6	19	52034114	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	703814	52034114	7094869	84	16832											
LILRB1	10859	broad.mit.edu	37	chr19	55143056	55143056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagacccaggagtaccGtctatatagagaaaagaaaa	18	5	10	8	1	1	3	0	0	1	3	1	6	1	4	3	2	1	1	3	2	8	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:55143056G>A	uc002qgj.3	+	4	516	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.3_Missense_Mutation_p.R59H|LILRB1_uc002qgk.3_Missense_Mutation_p.R59H|LILRB1_uc002qgm.3_Missense_Mutation_p.R59H|LILRB1_uc010erq.3_Missense_Mutation_p.R59H|LILRB1_uc010err.3_Non-coding_Transcript	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1 (LILRB1), transcript variant 1, mRNA.	59	Ig-like C2-type 1.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	p.R59C(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGAGTACCGTCTATATAGA	0.572										HNSCC(37;0.09)			A	55143056	G	A	55143056	3	1	241	1	0	0	0	0	1	0	0	0	8850	1145	40	1	186	1	LILRB1	19	55143056	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	3108942	55143056	3985927	85	16833											
C20orf94	128710	broad.mit.edu	37	chr20	10603963	10603963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttagccacaaacactgAaagattatctacaattcaga	16	9	6	10	1	2	3	1	1	1	2	2	3	2	3	1	1	3	1	1	1	6	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:10603963A>G	uc010zre.2	+	7	1343	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G		NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN	Homo sapiens chromosome 20 open reading frame 94 (C20orf94), mRNA.	388							protein binding	p.T387S(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	14						ACAAACACTGAAAGATTATCT	0.428													G	10603963	A	G	10603963	3	3	241	1	0	0	0	0	1	0	0	0	2142	246	9	3	1189	3	C20orf94	20	10603963	Missense_Mutation	SNP	A	TCGA-32-5222-01A-01D-1486-08		10603963	52421557	86	16834											
PYGB	5834	broad.mit.edu	37	chr20	25255279	25255279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccctgggagaaagcgCggcctgagtatatgcttccc	9	7	12	13	2	0	2	0	1	0	1	1	3	1	2	4	2	3	3	4	2	4	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:25255279C>T	uc002wup.3	+	4	689	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_002862	NP_002853	P11216	PYGB_HUMAN	Homo sapiens phosphorylase, glycogen; brain (PYGB), mRNA.	194					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGAGAAAGCGCGGCCTGAGTA	0.622													T	25255279	C	T	25255279	3	4	241	1	0	0	0	0	1	0	0	0	12948	759	27	1	598	1	PYGB	20	25255279	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	14651316	25255279	37770241	87	16835											
TGM2	7052	broad.mit.edu	37	chr20	36760804	36760804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccagcaggtagctgttgaTaactggctccacgaggaggg	10	7	15	9	1	0	1	0	1	0	0	1	3	1	2	2	4	4	5	2	4	2	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:36760804T>A	uc002xhr.3	-	10	1814	c.1714A>T	c.(1714-1716)Atc>Ttc	p.I572F	TGM2_uc002xhq.3_Missense_Mutation_p.I173F|TGM2_uc010zvx.2_Missense_Mutation_p.I491F|TGM2_uc010zvy.2_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F	NM_004613	NP_004604	P21980	TGM2_HUMAN	Homo sapiens transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM2), transcript variant 1, mRNA.	572					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TAGCTGTTGATAACTGGCTCC	0.567													A	36760804	T	A	36760804	3	1	241	1	0	0	0	0	1	0	0	0	15930	1406	49	5	361	5	TGM2	20	36760804	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	11505525	36760804	26264716	88	16836											
ARFGEF2	10564	broad.mit.edu	37	chr20	47585807	47585807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttggtgaaggccctccaGacccaaagtaagcagacagc	12	5	10	14	0	0	3	0	1	0	2	1	3	1	3	4	2	2	2	4	2	3	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47585807G>A	uc002xtx.4	+	8	1335	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	395					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGCCCTCCAGACCCAAAGTA	0.527													A	47585807	G	A	47585807	3	1	241	1	0	0	0	0	1	0	0	0	856	942	33	2	1217	2	ARFGEF2	20	47585807	Missense_Mutation	SNP	G	TCGA-32-5222-01A-01D-1486-08	10825003	47585807	15439713	89	16837											
ARFGEF2	10564	broad.mit.edu	37	chr20	47591341	47591341	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcctggagtgcctcgtGtccattctcaagtgcatggt	8	11	12	10	1	1	0	1	0	1	0	4	1	2	1	3	3	2	1	3	3	2	1			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47591341G>A	uc002xtx.4	+	12	1856	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V		NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	568					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTGCCTCGTGTCCATTCTCA	0.517													A	47591341	G	A	47591341	2	1	241	1	0	0	0	0	0	0	0	1	856	1364	48	2		2	ARFGEF2	20	47591341	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	5534	47591341	15434179	90	16838											
ZFP64	55734	broad.mit.edu	37	chr20	50769893	50769893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcttctcccccgagtgcaCccgcatgtgccttttcaagt	6	11	9	15	2	2	0	1	0	1	0	3	1	2	0	4	1	2	3	4	1	1	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:50769893C>T	uc002xwl.3	-	5	1187	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ZFP64_uc002xwk.3_Intron|ZFP64_uc002xwm.3_Missense_Mutation_p.V278M|ZFP64_uc002xwn.3_Missense_Mutation_p.V226M	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN	Homo sapiens zinc finger protein 64 homolog (mouse) (ZFP64), transcript variant 1, mRNA.	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCGAGTGCACCCGCATGTGC	0.552													T	50769893	C	T	50769893	3	4	241	1	0	0	0	0	1	0	0	0	17753	507	18	2	2402	2	ZFP64	20	50769893	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	3178552	50769893	12255627	91	16839											
SLC17A9	63910	broad.mit.edu	37	chr20	61596500	61596500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggttacagagccatcacGgtgcggaagctcatgcaggt	10	8	14	9	2	2	1	2	0	0	1	2	2	2	2	1	4	5	4	1	4	3	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:61596500G>A	uc002yea.4	+	8	1111	c.927G>A	c.(925-927)acG>acA	p.T309T	SLC17A9_uc002ydz.4_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	309					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587													A	61596500	G	A	61596500	2	1	241	1	0	0	0	0	0	0	0	1	14518	1103	39	1		1	SLC17A9	20	61596500	Silent	SNP	G	TCGA-32-5222-01A-01D-1486-08	10826607	61596500	1429020	92	16840											
ZNF280A	129025	broad.mit.edu	37	chr22	22868791	22868791	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtagggcatttcgccaggCttatgatggtccttcatgtg	7	13	12	9	2	1	1	1	1	0	0	3	1	2	1	2	3	0	3	2	3	2	4			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:22868791C>A	uc002zwe.3	-	1	1417	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280A_uc021wmo.1_Missense_Mutation_p.K388N	NM_080740	NP_542778	P59817	Z280A_HUMAN	Homo sapiens zinc finger protein 280A (ZNF280A), mRNA.	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTCGCCAGGCTTATGATGGT	0.458													A	22868791	C	A	22868791	3	1	241	1	0	0	0	0	1	0	0	0	17915	796	28	4	468	4	ZNF280A	22	22868791	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		22868791	28435775	93	16841											
FAM48B1	100130302	broad.mit.edu	37	chrX	24381779	24381779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcagaccctgtgatttggCcgtgccttcagaagtggatg	8	10	14	9	1	1	3	1	1	0	2	1	4	1	4	3	3	1	1	3	3	1	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:24381779C>T	uc011mjx.2	+	0	902	c.902C>T	c.(901-903)gCc>gTc	p.A301V		NM_001136234	NP_001129706			Homo sapiens family with sequence similarity 48, member B1 (FAM48B1), mRNA.											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(1)|skin(1)	26						TGTGATTTGGCCGTGCCTTCA	0.512													T	24381779	C	T	24381779	3	4	241	1	0	0	0	0	1	0	0	0	5624	739	26	2	904	2	FAM48B1	23	24381779	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08		24381779	130888781	94	16842											
DMD	1756	broad.mit.edu	37	chrX	32380981	32380981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggctctactaatttcCtgcagtggtcaccgcggttt	5	15	11	10	2	2	0	1	0	1	0	3	0	3	0	2	4	2	3	2	4	2	5			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:32380981C>T	uc004dda.1	-	36	5493	c.5249G>A	c.(5248-5250)aGg>aAg	p.R1750K	DMD_uc004dcw.2_Missense_Mutation_p.R406K|DMD_uc004dcx.2_Missense_Mutation_p.R409K|DMD_uc004dcz.2_Missense_Mutation_p.R1627K|DMD_uc004dcy.1_Missense_Mutation_p.R1746K|DMD_uc004ddb.1_Missense_Mutation_p.R1742K|DMD_uc010ngo.1_Intron	NM_004006	NP_004001	P11532	DMD_HUMAN	Homo sapiens dystrophin (DMD), transcript variant Dp427m, mRNA.	1750	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TACTAATTTCCTGCAGTGGTC	0.468													T	32380981	C	T	32380981	3	4	241	1	0	0	0	0	1	0	0	0	4619	681	24	2	6128	2	DMD	23	32380981	Missense_Mutation	SNP	C	TCGA-32-5222-01A-01D-1486-08	7999202	32380981	122889579	95	16843											
PCDH19	57526	broad.mit.edu	37	chrX	99661954	99661954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggatgatgacccgcaccgTagcgttgctttgcagtgagg	8	9	15	9	3	0	3	0	3	0	0	0	5	0	4	2	2	3	5	2	2	1	3			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:99661954T>C	uc010nmz.3	-	0	3318	c.1642A>G	c.(1642-1644)Acg>Gcg	p.T548A	PCDH19_uc004efw.4_Missense_Mutation_p.T548A|PCDH19_uc004efx.4_Missense_Mutation_p.T548A	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	548	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACCCGCACCGTAGCGTTGCTT	0.587													C	99661954	T	C	99661954	3	2	241	1	0	0	0	0	1	0	0	0	11590	1638	57	3	1828	3	PCDH19	23	99661954	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	67280973	99661954	55608606	96	16844											
STAG2	10735	broad.mit.edu	37	chrX	123202507	123202507	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atactactgttaaggaacagGttagtaattactatagatgg	15	13	9	4	0	0	1	0	0	0	1	0	2	0	2	0	3	4	3	0	3	9	8			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:123202507G>T	uc004eua.3	+	24	2762	c.2358_splice	c.e24+1	p.Q786_splice	STAG2_uc004etz.4_Splice_Site_p.Q786_splice|STAG2_uc004eub.3_Splice_Site_p.Q786_splice|STAG2_uc004euc.3_Splice_Site_p.Q786_splice|STAG2_uc004eud.3_Splice_Site_p.Q786_splice|STAG2_uc004eue.3_Splice_Site_p.Q786_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	786					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAGGAACAGGTTAGTAATTA	0.313													T	123202507	G	T	123202507	5	4	241	1	0	0	0	0	0	0	1	0	15339	1275	44	4	2445	4	STAG2	23	123202507	Splice_Site	SNP	G	TCGA-32-5222-01A-01D-1486-08	23540553	123202507	32068053	97	16845											
GABRA3	2556	broad.mit.edu	37	chrX	151533006	151533006	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaagaatcccaaggcTggtcatgtaacagtgacttg	14	8	11	8	0	1	2	1	1	0	1	2	3	2	3	1	3	1	2	1	3	5	2			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:151533006T>C	uc010ntk.1	-	1	277	c.37A>G	c.(37-39)Agc>Ggc	p.S13G		NM_000808	NP_000799	P34903	GBRA3_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 3 (GABRA3), mRNA.	13					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCCCAAGGCTGGTCATGTAA	0.443													C	151533006	T	C	151533006	3	2	241	1	0	0	0	0	1	0	0	0	6214	1580	55	3	1477	3	GABRA3	23	151533006	Missense_Mutation	SNP	T	TCGA-32-5222-01A-01D-1486-08	28330499	151533006	3737554	98	16846											
KIAA0090	23065	broad.mit.edu	37	chr1	19565777	19565777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtcttctccccagtggtgGcaaagctcactagggcagtc	7	9	11	14	1	3	0	1	0	2	0	5	0	3	0	3	3	1	3	3	3	2	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:19565777G>A	uc001bbo.3	-	8	1017	c.974C>T	c.(973-975)gCc>gTc	p.A325V	KIAA0090_uc001bbp.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbq.3_Missense_Mutation_p.A325V|KIAA0090_uc001bbr.3_Missense_Mutation_p.A303V	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	325						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		CCCAGTGGTGGCAAAGCTCAC	0.542													A	19565777	G	A	19565777	3	1	242	1	0	0	0	0	1	0	0	0	8211	1203	42	2	2067	2	KIAA0090	1	19565777	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		19565777	229684844	1	16847											
PLA2G2F	64600	broad.mit.edu	37	chr1	20470022	20470022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgccatcctgtccttcGtgggctacggttgctactgt	4	12	13	12	3	0	0	0	0	0	0	3	1	2	1	3	3	4	3	3	3	2	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:20470022G>A	uc009vpp.1	+	2	351	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_022819	NP_073730	Q9BZM2	PA2GF_HUMAN	Homo sapiens phospholipase A2, group IIF (PLA2G2F), mRNA.	42					lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000247)|Lung NSC(340;0.000285)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.000524)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)		CCTGTCCTTCGTGGGCTACGG	0.637													A	20470022	G	A	20470022	3	1	242	1	0	0	0	0	1	0	0	0	12076	1145	40	1	263	1	PLA2G2F	1	20470022	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	904245	20470022	228780599	2	16848											
SPTA1	6708	broad.mit.edu	37	chr1	158626392	158626392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgcagagctttcatacTgtctccaaatgaattgagat	12	13	7	9	1	2	3	1	2	1	2	4	4	3	3	2	0	2	2	2	0	3	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:158626392T>A	uc001fst.1	-	19	3059	c.2860A>T	c.(2860-2862)Agt>Tgt	p.S954C		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	954					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.D953E(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCTTTCATACTGTCTCCAAAT	0.408													A	158626392	T	A	158626392	3	1	242	1	0	0	0	0	1	0	0	0	15212	1580	55	5	4531	5	SPTA1	1	158626392	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08	138156370	158626392	90624229	3	16849											
LY9	4063	broad.mit.edu	37	chr1	160793477	160793477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagggcgctggacatgAcccagcccctgagggccaag	9	4	15	13	1	1	2	1	2	0	0	1	4	1	4	4	4	1	1	4	4	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:160793477A>G	uc001fwu.3	+	7	1771	c.1721A>G	c.(1720-1722)gAc>gGc	p.D574G	LY9_uc001fwv.3_Missense_Mutation_p.D560G|LY9_uc001fww.3_Missense_Mutation_p.D484G|LY9_uc001fwy.1_Missense_Mutation_p.D372G|LY9_uc001fwz.3_Missense_Mutation_p.D212G	NM_002348	NP_002339	Q9HBG7	LY9_HUMAN	Homo sapiens lymphocyte antigen 9 (LY9), transcript variant 1, mRNA.	574					cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGGACATGACCCAGCCCCT	0.537													G	160793477	A	G	160793477	3	3	242	1	0	0	0	0	1	0	0	0	9172	275	10	3	1883	3	LY9	1	160793477	Missense_Mutation	SNP	A	TCGA-41-2571-01A-01D-1495-08	2167085	160793477	88457144	4	16850											
CEP350	9857	broad.mit.edu	37	chr1	179972355	179972355	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacacctgatgggaaagtGtggcaggaggctgagtttca	11	8	15	7	1	1	2	1	2	0	0	1	5	1	4	1	4	1	3	1	4	2	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr1:179972355G>A	uc001gnt.3	+	6	1448	c.1065G>A	c.(1063-1065)gtG>gtA	p.V355V	CEP350_uc009wxl.2_Silent_p.V354V|CEP350_uc001gnu.3_Silent_p.V189V	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	355						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						ATGGGAAAGTGTGGCAGGAGG	0.373													A	179972355	G	A	179972355	2	1	242	1	0	0	0	0	0	0	0	1	3284	1364	48	2		2	CEP350	1	179972355	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	19178878	179972355	69278266	5	16851											
SRBD1	55133	broad.mit.edu	37	chr2	45773870	45773870	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatatatgtaatagccttaCcagtaaacaacatccagtgg	16	10	7	8	0	0	1	0	0	0	1	1	1	1	1	3	1	4	2	3	1	8	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:45773870C>A	uc002rus.3	-	14	1950	c.1874_splice	c.e14+1	p.C625_splice	SRBD1_uc010yoc.2_Splice_Site_p.C144_splice	NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	625					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AATAGCCTTACCAGTAAACAA	0.378													A	45773870	C	A	45773870	5	1	242	1	0	0	0	0	0	0	1	0	15229	521	18	4	1144	4	SRBD1	2	45773870	Splice_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08		45773870	197425503	6	16852											
CRYGD	1421	broad.mit.edu	37	chr2	208986472	208986472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctggtagcgcctataGtcccctggcatcagcaggta	8	9	11	13	1	1	0	1	0	0	0	3	0	3	0	4	3	2	4	4	3	4	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr2:208986472G>C	uc002vcn.4	-	2	566	c.450C>G	c.(448-450)gaC>gaG	p.D150E	LOC100507443_uc021vvt.1_Intron|CRYGD_uc021vvu.1_Missense_Mutation_p.D150E	NM_006891	NP_008822	P07320	CRGD_HUMAN	Homo sapiens crystallin, gamma D (CRYGD), mRNA.	150	Beta/gamma crystallin 'Greek key' 4.				cellular response to reactive oxygen species|visual perception	soluble fraction	protein binding|structural constituent of eye lens			breast(1)|endometrium(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.0858)|Lung(261;0.133)		AGCGCCTATAGTCCCCTGGCA	0.542													C	208986472	G	C	208986472	3	2	242	1	0	0	0	0	1	0	0	0	3948	1020	36	4	78	4	CRYGD	2	208986472	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	163212602	208986472	34212901	7	16853											
CCR4	1233	broad.mit.edu	37	chr3	32995888	32995888	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaaacctgcaggggccTttttgtgctctgccaatact	8	13	8	12	0	2	0	1	0	1	0	2	0	2	0	3	2	5	2	3	2	4	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:32995888T>A	uc003cfg.1	+	1	1142	c.974T>A	c.(973-975)cTt>cAt	p.L325H	CCR4_uc021wuw.1_Missense_Mutation_p.L325H	NM_005508	NP_005499	P51679	CCR4_HUMAN	Homo sapiens chemokine (C-C motif) receptor 4 (CCR4), mRNA.	325					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						TGCAGGGGCCTTTTTGTGCTC	0.478													A	32995888	T	A	32995888	3	1	242	1	0	0	0	0	1	0	0	0	2973	1609	56	5	976	5	CCR4	3	32995888	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08		32995888	165026542	8	16854											
DCP1A	55802	broad.mit.edu	37	chr3	53376299	53376299	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtaaggggaagctgacCttagatttaatagaagaaaa	17	9	11	4	0	0	4	0	1	0	3	0	5	0	5	1	3	1	2	1	3	8	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:53376299C>A	uc021wzi.1	-	3	287	c.177_splice	c.e3-1	p.R59_splice	DCP1A_uc021wzk.1_Splice_Site_p.R59_splice	NM_018403	NP_060873	Q9NPI6	DCP1A_HUMAN	Homo sapiens DCP1 decapping enzyme homolog A (S. cerevisiae) (DCP1A), mRNA.	59					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytoplasmic mRNA processing body|cytosol|nucleus	hydrolase activity|protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.000164)|KIRC - Kidney renal clear cell carcinoma(197;0.00525)|Kidney(197;0.00579)|OV - Ovarian serous cystadenocarcinoma(275;0.0647)		GGAAGCTGACCTTAGATTTAA	0.294													A	53376299	C	A	53376299	5	1	242	1	0	0	0	0	0	0	1	0	4332	695	24	4	1604	4	DCP1A	3	53376299	Splice_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08	20380411	53376299	144646131	9	16855											
CD96	10225	broad.mit.edu	37	chr3	111356983	111356983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtccccacaactgccaatgGatctacgaaaactaatcacg	15	7	6	13	2	2	0	1	0	1	0	3	2	3	1	3	1	4	0	3	1	6	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:111356983G>A	uc003dxw.3	+	12	1663	c.1493G>A	c.(1492-1494)gGa>gAa	p.G498E	CD96_uc003dxx.3_Missense_Mutation_p.G482E|CD96_uc010hpy.1_Missense_Mutation_p.G481E	NM_198196	NP_937839	P40200	TACT_HUMAN	Homo sapiens CD96 molecule (CD96), transcript variant 1, mRNA.	498	Pro/Ser/Thr-rich.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						ACTGCCAATGGATCTACGAAA	0.383									Opitz Trigonocephaly syndrome				A	111356983	G	A	111356983	3	1	242	1	0	0	0	0	1	0	0	0	3078	1174	41	2	1543	2	CD96	3	111356983	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	57980684	111356983	86665447	10	16856											
HPS3	84343	broad.mit.edu	37	chr3	148857895	148857895	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actctcgtgtgtgtatccgaAtgattgggcataatgtggag	9	13	13	6	2	1	1	0	1	1	0	3	3	2	2	1	2	0	2	1	2	3	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:148857895A>C	uc003ewu.1	+	1	462	c.322A>C	c.(322-324)Atg>Ctg	p.M108L	HPS3_uc011bnq.1_Intron|HPS3_uc021xfk.1_Missense_Mutation_p.M1L	NM_032383	NP_115759	Q969F9	HPS3_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 3 (HPS3), mRNA.	108						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTGTATCCGAATGATTGGGCA	0.423									Hermansky-Pudlak syndrome				C	148857895	A	C	148857895	3	2	242	1	0	0	0	0	1	0	0	0	7395	101	4	5	328	5	HPS3	3	148857895	Missense_Mutation	SNP	A	TCGA-41-2571-01A-01D-1495-08	37500912	148857895	49164535	11	16857											
CPN2	1370	broad.mit.edu	37	chr3	194062087	194062087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagcccaagtggtcccGggtgacgggacacaccagct	9	5	14	13	2	0	1	0	1	0	0	1	3	1	3	3	4	2	1	3	4	2	0	rs142681810		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr3:194062087G>A	uc003fts.3	-	1	1435	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	CPN2_uc021xix.1_Missense_Mutation_p.R449W	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	449					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		AAGTGGTCCCGGGTGACGGGA	0.647													A	194062087	G	A	194062087	3	1	242	1	0	0	0	0	1	0	0	0	3841	1115	39	1	296	1	CPN2	3	194062087	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	45204192	194062087	3960343	12	16858											
TLR1	7096	broad.mit.edu	37	chr4	38798601	38798601	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctgcgccgggtctGggtccactggcacaccatcc	4	7	12	18	2	1	0	0	0	1	0	3	0	3	0	6	4	1	1	6	4	0	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:38798601G>A	uc003gtl.3	-	3	2126	c.1852C>T	c.(1852-1854)Cag>Tag	p.Q618*	TLR1_uc021xnn.1_Nonsense_Mutation_p.Q618*	NM_003263	NP_003254	Q15399	TLR1_HUMAN	Homo sapiens toll-like receptor 1 (TLR1), mRNA.	618					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CGCCGGGTCTGGGTCCACTGG	0.522													A	38798601	G	A	38798601	4	1	242	1	0	0	0	0	0	1	0	0	16049	1357	47	2	512	2	TLR1	4	38798601	Nonsense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		38798601	152355675	13	16859											
CCDC158	339965	broad.mit.edu	37	chr4	77288529	77288529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcatagctccagcagttCgtccatgctggcccaccagc	7	9	9	16	1	0	0	0	0	0	0	3	0	2	0	4	1	5	5	4	1	1	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:77288529C>T	uc003hkb.4	-	10	1901	c.1748G>A	c.(1747-1749)cGa>cAa	p.R583Q		NM_001042784	NP_001036249	Q5M9N0	CD158_HUMAN	Homo sapiens coiled-coil domain containing 158 (CCDC158), mRNA.	583								p.R583Q(2)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCCAGCAGTTCGTCCATGCTG	0.458													T	77288529	C	T	77288529	3	4	242	1	0	0	0	0	1	0	0	0	2817	884	31	1	1649	1	CCDC158	4	77288529	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	38489928	77288529	113865747	14	16860											
PPA2	27068	broad.mit.edu	37	chr4	106317427	106317427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttatagctcctccattaCacttcttcataagcaatgct	12	15	3	11	0	2	0	1	0	1	0	4	0	4	0	2	0	4	3	2	0	6	7			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr4:106317427C>T	uc003hxl.3	-	8	868	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	PPA2_uc003hxn.3_Missense_Mutation_p.C254Y|PPA2_uc003hxo.3_Missense_Mutation_p.C181Y|PPA2_uc003hxp.3_Missense_Mutation_p.C117Y|PPA2_uc003hxq.3_Missense_Mutation_p.C190Y	NM_176869	NP_789845	Q9H2U2	IPYR2_HUMAN	Homo sapiens pyrophosphatase (inorganic) 2 (PPA2), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	283					diphosphate metabolic process|tRNA aminoacylation for protein translation	mitochondrial matrix	inorganic diphosphatase activity|magnesium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	11		Myeloproliferative disorder(5;0.0255)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.03e-07)		TCCTCCATTACACTTCTTCAT	0.294													T	106317427	C	T	106317427	3	4	242	1	0	0	0	0	1	0	0	0	12364	478	17	2	172	2	PPA2	4	106317427	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	29028898	106317427	84836849	15	16861											
RAPGEF6	96459	broad.mit.edu	37	chr5	131039794	131039794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaatttgttcatgtggctTtcaaagagaggaaaatgtga	13	15	10	3	0	2	2	2	1	0	1	2	4	2	3	0	2	0	2	0	2	4	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:131039794T>C	uc003kvs.1	-	9	1222	c.1080A>G	c.(1078-1080)gaA>gaG	p.E360E	RAPGEF6_uc003kvp.2_Intron|RAPGEF6_uc003kvt.1_Silent_p.E332E|RAPGEF6_uc010jdm.1_Silent_p.E315E|RAPGEF6_uc003kvu.3_Silent_p.E360E	NM_133372	NP_588613	Q8TEU7	RPGF6_HUMAN	Homo sapiens folliculin interacting protein 1 (FNIP1), transcript variant 1, mRNA.	0					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TCATGTGGCTTTCAAAGAGAG	0.269													C	131039794	T	C	131039794	2	2	242	1	0	0	0	0	0	0	0	1	13136	1838	64	3		3	RAPGEF6	5	131039794	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08		131039794	49875466	16	16862											
PCDHGC5	56108	broad.mit.edu	37	chr5	140763059	140763059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggaactggtgctggagcGggtgctggaccgggaggaag	7	5	20	9	3	0	0	0	0	0	0	0	5	0	5	2	7	4	2	2	7	2	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr5:140763059G>A	uc003lka.2	+	0	593	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003ljz.1_Missense_Mutation_p.R198Q	NM_018920	NP_061743	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 7 (PCDHGA7), transcript variant 1, mRNA.	198	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCTGGAGCGGGTGCTGGAC	0.622													A	140763059	G	A	140763059	3	1	242	1	0	0	0	0	1	0	0	0	11647	1116	39	1		1	PCDHGC5	5	140763059	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	9723265	140763059	40152201	17	16863											
HLA-E	3133	broad.mit.edu	37	chr6	30458930	30458930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcccccaaagacacaCgtgactcaccaccccatctc	12	5	5	19	1	3	3	2	1	1	2	4	3	3	3	5	0	1	0	5	0	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:30458930C>T	uc011dmh.2	+	2	777	c.750C>T	c.(748-750)caC>caT	p.H250H	HLA-E_uc011dmg.2_Non-coding_Transcript|HLA-E_uc003nqg.3_Silent_p.H209H			P13747	HLAE_HUMAN	Homo sapiens major histocompatibility complex, class I, E (HLA-E), mRNA.	209	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CAAAGACACACGTGACTCACC	0.582													T	30458930	C	T	30458930	2	4	242	1	0	0	0	0	0	0	0	1	7265	535	19	1		1	HLA-E	6	30458930	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		30458930	140656137	18	16864											
DST	667	broad.mit.edu	37	chr6	56357035	56357035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggttattacctgcttggctCtcttccttgcatcatccaaa	7	15	7	12	0	2	0	1	0	1	0	5	0	4	0	3	2	3	4	3	2	3	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:56357035C>G	uc003pcy.4	-	65	12986	c.12878G>C	c.(12877-12879)aGa>aCa	p.R4293T	DST_uc003pda.4_5'UTR	NM_015548	NP_056363	Q03001	DYST_HUMAN	Homo sapiens dystonin (DST), transcript variant 1eA, mRNA.	6705					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTGCTTGGCTCTCTTCCTTGC	0.373													G	56357035	C	G	56357035	3	3	242	1	0	0	0	0	1	0	0	0	4822	913	32	4	2713	4	DST	6	56357035	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	25898105	56357035	114758032	19	16865											
COL19A1	1310	broad.mit.edu	37	chr6	70878104	70878104	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccagggccacccggtccTcctgtaagtacagttgttta	8	11	9	13	1	0	0	0	0	0	0	2	0	2	0	5	2	2	4	5	2	4	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:70878104T>A	uc003pfc.1	+	38	2655	c.2538T>A	c.(2536-2538)ccT>ccA	p.P846P		NM_001858	NP_001849	Q14993	COJA1_HUMAN	Homo sapiens collagen, type XIX, alpha 1 (COL19A1), mRNA.	846	Triple-helical region 5 (COL5).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CACCCGGTCCTCCTGTAAGTA	0.383													A	70878104	T	A	70878104	2	1	242	1	0	0	0	0	0	0	0	1	3707	1538	54	5		5	COL19A1	6	70878104	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	14521069	70878104	100236963	20	16866											
TBP	6908	broad.mit.edu	37	chr6	170878836	170878836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttcctataaggttagaaGgccttgtgctcacccaccaa	11	11	8	11	0	1	1	1	0	0	1	2	1	2	1	4	2	1	3	4	2	5	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr6:170878836G>T	uc003qxu.3	+	5	1093	c.814G>T	c.(814-816)Ggc>Tgc	p.G272C	TBP_uc011ehf.2_Missense_Mutation_p.G252C|TBP_uc003qxt.3_Missense_Mutation_p.G272C	NM_003194	NP_001165556	P20226	TBP_HUMAN	Homo sapiens TATA box binding protein (TBP), transcript variant 1, mRNA.	272					cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		AAGGTTAGAAGGCCTTGTGCT	0.368													T	170878836	G	T	170878836	3	4	242	1	0	0	0	0	1	0	0	0	15744	1000	35	4	832	4	TBP	6	170878836	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	100000732	170878836	236231	21	16867											
C7orf65	401335	broad.mit.edu	37	chr7	47698751	47698751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcactgacccctggaaGgatgctcaggcctggatact	8	10	12	11	0	2	1	2	1	0	0	2	4	2	4	3	5	2	2	3	5	2	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:47698751G>T	uc010kyp.1	+	2	416	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_001123065	NP_001116537	Q6ZTY9	CG065_HUMAN	Homo sapiens chromosome 7 open reading frame 65 (C7orf65), mRNA.	127										endometrium(1)|lung(2)	3						ACCCCTGGAAGGATGCTCAGG	0.552													T	47698751	G	T	47698751	3	4	242	1	0	0	0	0	1	0	0	0	2435	991	35	4	391	4	C7orf65	7	47698751	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		47698751	111439912	22	16868											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558904	113558904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtatccaggtatatgtcttCagaagaatcagaacctcgtc	12	11	9	9	1	3	3	2	0	1	3	6	3	4	3	2	2	1	2	2	2	6	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:113558904C>T	uc010ljy.1	-	0	179	c.148G>A	c.(148-150)Gaa>Aaa	p.E50K		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	50					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TATATGTCTTCAGAAGAATCA	0.388													T	113558904	C	T	113558904	3	4	242	1	0	0	0	0	1	0	0	0	12453	835	29	2	3236	2	PPP1R3A	7	113558904	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	65860153	113558904	45579759	23	16869											
ANKRD7	56311	broad.mit.edu	37	chr7	117864828	117864828	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagaggggcagggcggaCggctaggagttcaagaaaca	12	3	19	7	2	1	2	1	0	0	2	1	4	1	4	0	7	1	4	0	7	3	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:117864828C>T	uc003vji.3	+	0						NM_019644	NP_062618	Q92527	ANKR7_HUMAN	Homo sapiens ankyrin repeat domain 7 (ANKRD7), mRNA.						male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GCAGGGCGGACGGCTAGGAGT	0.602													T	117864828	C	T	117864828	1	4	242	1	0	0	0	0	0	0	0	0	686	551	19	1		1	ANKRD7	7	117864828	Translation_Start_Site	SNP	C	TCGA-41-2571-01A-01D-1495-08	4305924	117864828	41273835	24	16870											
TBXAS1	6916	broad.mit.edu	37	chr7	139655361	139655361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtgaaacactgcaagCgtttcttcgaattctgcatc	9	14	7	11	2	2	1	0	1	2	0	4	2	2	1	1	0	4	3	1	0	3	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr7:139655361C>T	uc011kqv.2	+	7	1019	c.784C>T	c.(784-786)Cgt>Tgt	p.R262C	TBXAS1_uc003vvh.3_Missense_Mutation_p.R216C|TBXAS1_uc010lne.3_Missense_Mutation_p.R148C|TBXAS1_uc011kqu.2_Missense_Mutation_p.R167C|TBXAS1_uc003vvi.3_Missense_Mutation_p.R216C|TBXAS1_uc011kqw.2_Missense_Mutation_p.R196C|TBXAS1_uc003vvj.3_Missense_Mutation_p.R216C	NM_001166253	NP_001159725	P24557	THAS_HUMAN	Homo sapiens thromboxane A synthase 1 (platelet) (TBXAS1), transcript variant 4, mRNA.	215					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					ACACTGCAAGCGTTTCTTCGA	0.577													T	139655361	C	T	139655361	3	4	242	1	0	0	0	0	1	0	0	0	15764	768	27	1	814	1	TBXAS1	7	139655361	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	21790533	139655361	19483302	25	16871											
TACC1	6867	broad.mit.edu	37	chr8	38677275	38677275	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcggaacaaaagcagcTcatggctgtgtaactgcagt	11	9	11	10	1	1	0	1	0	0	0	3	1	2	1	1	2	5	5	1	2	4	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr8:38677275T>C	uc010lwp.3	+	2	892	c.513T>C	c.(511-513)gcT>gcC	p.A171A	TACC1_uc011lby.1_5'UTR|TACC1_uc003xma.3_Intron|TACC1_uc003xmb.4_Silent_p.A126A|TACC1_uc003xlz.3_5'UTR|TACC1_uc003xmc.4_5'UTR|TACC1_uc011lbz.2_Silent_p.A187A|TACC1_uc003xme.1_Intron|TACC1_uc003xmd.1_Intron|TACC1_uc010lwo.1_Intron|TACC1_uc003xmf.4_Intron|TACC1_uc011lca.2_Silent_p.A171A|TACC1_uc011lcb.2_5'UTR|TACC1_uc011lcc.2_5'UTR|TACC1_uc011lcd.2_Non-coding_Transcript|TACC1_uc003xmh.4_5'UTR|TACC1_uc010lwq.3_5'UTR	NM_006283	NP_001139688	O75410	TACC1_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 1 (TACC1), transcript variant 1, mRNA.	171	Interaction with TDRD7.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding	p.A171V(1)		breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			CAAAAGCAGCTCATGGCTGTG	0.532													C	38677275	T	C	38677275	2	2	242	1	0	0	0	0	0	0	0	1	15598	1538	54	3		3	TACC1	8	38677275	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08		38677275	107686747	26	16872											
KANK1	23189	broad.mit.edu	37	chr9	732407	732407	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttcaagtgatgattccaGctcagatgaaagctcttctt	12	13	7	9	0	4	4	2	3	2	1	5	4	5	4	1	0	3	2	1	0	3	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:732407G>T	uc003zgl.1	+	9	3684	c.3035G>T	c.(3034-3036)aGc>aTc	p.S1012I	KANK1_uc003zgm.3_3'UTR|KANK1_uc003zgn.1_Missense_Mutation_p.S1012I|KANK1_uc003zgs.1_Missense_Mutation_p.S854I|KANK1_uc010mgx.1_5'UTR|KANK1_uc010mgy.1_5'UTR|KANK1_uc003zgt.1_5'Flank	NM_015158	NP_055973	Q14678	KANK1_HUMAN	Homo sapiens KN motif and ankyrin repeat domains 1 (KANK1), transcript variant 1, mRNA.	1012					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		GATGATTCCAGCTCAGATGAA	0.458													T	732407	G	T	732407	3	4	242	1	0	0	0	0	1	0	0	0	8034	971	34	4	3053	4	KANK1	9	732407	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		732407	140481024	27	16873											
STXBP1	6812	broad.mit.edu	37	chr9	130444743	130444743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtaccgcagtggccccCgcctcatcattttcatcctt	6	11	8	16	3	3	0	3	0	0	0	4	1	4	0	5	1	1	2	5	1	1	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr9:130444743C>T	uc004brk.2	+	17	1803	c.1606C>T	c.(1606-1608)Cgc>Tgc	p.R536C	STXBP1_uc004brl.2_Missense_Mutation_p.R536C	NM_003165	NP_003156	P61764	STXB1_HUMAN	Homo sapiens syntaxin binding protein 1 (STXBP1), transcript variant 1, mRNA.	536					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						CAGTGGCCCCCGCCTCATCAT	0.562													T	130444743	C	T	130444743	3	4	242	1	0	0	0	0	1	0	0	0	15448	652	23	1	1676	1	STXBP1	9	130444743	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	129712336	130444743	10768688	28	16874											
LARP4B	23185	broad.mit.edu	37	chr10	882389	882389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgcaatattactatgcagCgattttgatttggccttact	10	15	7	9	2	0	1	0	1	0	0	0	2	0	1	1	1	4	2	1	1	5	7			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:882389C>T	uc001ifs.1	-	6	745	c.704G>A	c.(703-705)cGc>cAc	p.R235H		NM_015155	NP_055970	Q92615	LAR4B_HUMAN	Homo sapiens La ribonucleoprotein domain family, member 4B (LARP4B), mRNA.	235	HTH La-type RNA-binding.						nucleotide binding|RNA binding	p.R235C(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TACTATGCAGCGATTTTGATT	0.353													T	882389	C	T	882389	3	4	242	1	0	0	0	0	1	0	0	0	8690	768	27	1	1556	1	LARP4B	10	882389	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		882389	134652358	29	16875											
CDH23	64072	broad.mit.edu	37	chr10	73462359	73462359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagtgtttgtgaacctcTtggatctcaatgacaatgac	11	12	8	10	0	2	3	1	3	2	0	3	4	2	4	2	1	1	1	2	1	3	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:73462359T>C	uc001jrx.4	+	22	3025	c.2635T>C	c.(2635-2637)Ttg>Ctg	p.L879L	CDH23_uc001jry.3_Silent_p.L879L|CDH23_uc001jrz.3_Silent_p.L879L	NM_022124	NP_071407	Q9H251	CAD23_HUMAN	Homo sapiens cadherin-related 23 (CDH23), transcript variant 1, mRNA.	881	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						TGTGAACCTCTTGGATCTCAA	0.577													C	73462359	T	C	73462359	2	2	242	1	0	0	0	0	0	0	0	1	3138	1606	56	3		3	CDH23	10	73462359	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	72579970	73462359	62072388	30	16876											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	242	1	0	0	0	0	0	1	0	0	12823	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	16255313	89717672	45817075	31	16877											
CALHM2	51063	broad.mit.edu	37	chr10	105209447	105209447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctccggtgctggcactcGgccacgaggttccaggtgtg	4	9	15	13	3	0	0	0	0	0	0	4	1	3	0	4	5	1	3	4	5	0	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:105209447G>A	uc001kxa.3	-	2	863	c.252C>T	c.(250-252)gcC>gcT	p.A84A	CALHM2_uc001kxc.3_Silent_p.A84A|CALHM2_uc001kxb.3_Silent_p.A84A|CALHM2_uc001kxd.1_Silent_p.A84A	NM_015916	NP_057000	Q9HA72	CAHM2_HUMAN	Homo sapiens calcium homeostasis modulator 2 (CALHM2), transcript variant 1, mRNA.	84						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						GCTGGCACTCGGCCACGAGGT	0.647													A	105209447	G	A	105209447	2	1	242	1	0	0	0	0	0	0	0	1	2609	1103	39	1		1	CALHM2	10	105209447	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	15491775	105209447	30325300	32	16878											
JAKMIP3	282973	broad.mit.edu	37	chr10	133954043	133954043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaccaaacagacaggaCggaccagaccccgtgcaccc	12	4	8	17	2	1	2	0	0	1	2	1	4	1	4	5	2	3	1	5	2	2	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr10:133954043C>T	uc001lkx.4	+	8	1433	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M		NM_001105521	NP_001098991			Homo sapiens Janus kinase and microtubule interacting protein 3 (JAKMIP3), mRNA.											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		ACAGACAGGACGGACCAGACC	0.607													T	133954043	C	T	133954043	3	4	242	1	0	0	0	0	1	0	0	0	8000	536	19	1	1467	1	JAKMIP3	10	133954043	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	28744596	133954043	1580704	33	16879											
EIF3M	10480	broad.mit.edu	37	chr11	32615446	32615446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatggtggaattgctcGgaagttacacagaggacaat	14	9	12	6	1	1	1	1	0	0	1	2	4	1	4	0	4	2	2	0	4	5	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:32615446G>A	uc001mtu.3	+	5	611	c.568G>A	c.(568-570)Gga>Aga	p.G190R	EIF3M_uc010ref.2_Missense_Mutation_p.G58R	NM_006360	NP_006351	Q7L2H7	EIF3M_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit M (EIF3M), mRNA.	190						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16	Breast(20;0.109)					GGAATTGCTCGGAAGTTACAC	0.388													A	32615446	G	A	32615446	3	1	242	1	0	0	0	0	1	0	0	0	5064	1117	39	1	590	1	EIF3M	11	32615446	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		32615446	102391070	34	16880											
MS4A14	84689	broad.mit.edu	37	chr11	60183725	60183725	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatattgtgcagttcccTgaaatacaacacctacttca	12	12	4	13	0	1	1	1	1	0	0	3	1	3	1	3	0	4	2	3	0	5	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:60183725T>C	uc001npj.3	+	4	1849	c.1284T>C	c.(1282-1284)ccT>ccC	p.P428P	MS4A14_uc001npi.3_Silent_p.P316P|MS4A14_uc001npn.3_Silent_p.P166P|MS4A14_uc001npk.3_Silent_p.P411P|MS4A14_uc001npl.3_Silent_p.P166P|MS4A14_uc001npm.3_Silent_p.P166P	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	428	Gln-rich.					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						TGCAGTTCCCTGAAATACAAC	0.423													C	60183725	T	C	60183725	2	2	242	1	0	0	0	0	0	0	0	1	9934	1567	55	3		3	MS4A14	11	60183725	Silent	SNP	T	TCGA-41-2571-01A-01D-1495-08	27568279	60183725	74822791	35	16881											
HEPHL1	341208	broad.mit.edu	37	chr11	93796724	93796724	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaacaaaaatgatgacatgGttcctcctgggaaaaactac	16	8	9	8	0	0	2	0	2	0	0	2	4	2	4	2	3	3	1	2	3	6	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:93796724G>T	uc001pep.2	+	2	623	c.466G>T	c.(466-468)Gtt>Ttt	p.V156F		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	156	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGATGACATGGTTCCTCCTGG	0.433													T	93796724	G	T	93796724	3	4	242	1	0	0	0	0	1	0	0	0	7110	1261	44	4	476	4	HEPHL1	11	93796724	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	33612999	93796724	41209792	36	16882											
PIWIL4	143689	broad.mit.edu	37	chr11	94335056	94335056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggttgattttatgtagCgacagaactgaatatgttgc	11	14	10	6	1	0	3	0	2	0	1	0	4	0	3	1	1	3	3	1	1	5	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr11:94335056C>T	uc001pfa.3	+	11	1687	c.1476C>T	c.(1474-1476)agC>agT	p.S492S	PIWIL4_uc010rue.1_Non-coding_Transcript|PIWIL4_uc009ywk.2_Non-coding_Transcript	NM_152431	NP_689644	Q7Z3Z4	PIWL4_HUMAN	Homo sapiens piwi-like 4 (Drosophila) (PIWIL4), mRNA.	492					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTTTATGTAGCGACAGAACTG	0.423													T	94335056	C	T	94335056	2	4	242	1	0	0	0	0	0	0	0	1	12037	767	27	1		1	PIWIL4	11	94335056	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	538332	94335056	40671460	37	16883											
ANO2	57101	broad.mit.edu	37	chr12	5908716	5908716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatagaacactccatagcGcgcccattcttgatatagca	12	11	6	12	2	1	2	0	1	1	1	2	2	2	2	2	0	3	1	2	0	6	7			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:5908716G>A	uc001qnm.2	-	9	1072	c.1000C>T	c.(1000-1002)Cgc>Tgc	p.R334C		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	339						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACTCCATAGCGCGCCCATTCT	0.423													A	5908716	G	A	5908716	3	1	242	1	0	0	0	0	1	0	0	0	697	1087	38	1	2064	1	ANO2	12	5908716	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08		5908716	127943179	38	16884											
VWF	7450	broad.mit.edu	37	chr12	6128359	6128359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcccaccgggatcacaatgaCcttcttcttcttcaggccct	7	11	7	16	1	5	1	2	1	3	0	5	2	5	2	4	2	0	0	4	2	1	4	rs61750078		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:6128359C>T	uc001qnn.1	-	27	4475	c.4225G>A	c.(4225-4227)Gtc>Atc	p.V1409I	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	1409	VWFA 1; binding site for platelet glycoprotein Ib.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCACAATGACCTTCTTCTTC	0.607													T	6128359	C	T	6128359	3	4	242	1	0	0	0	0	1	0	0	0	17348	507	18	2	4316	2	VWF	12	6128359	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	219643	6128359	127723536	39	16885											
ELK3	2004	broad.mit.edu	37	chr12	96641080	96641080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgtgaccaataaaacCgacaagcacgtcaccaggcc	14	6	9	12	2	1	1	1	1	0	0	1	2	1	1	4	2	2	2	4	2	4	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr12:96641080C>T	uc001teo.1	+	2	849	c.570C>T	c.(568-570)acC>acT	p.T190T		NM_005230	NP_005221	P41970	ELK3_HUMAN	Homo sapiens ELK3, ETS-domain protein (SRF accessory protein 2) (ELK3), mRNA.	190					negative regulation of transcription, DNA-dependent|signal transduction	mitochondrion	protein binding|purine-rich negative regulatory element binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(5)|ovary(2)|prostate(1)|stomach(2)	20	all_cancers(2;0.00173)					CCAATAAAACCGACAAGCACG	0.622													T	96641080	C	T	96641080	2	4	242	1	0	0	0	0	0	0	0	1	5101	639	23	1		1	ELK3	12	96641080	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08	90512721	96641080	37210815	40	16886											
UGGT2	55757	broad.mit.edu	37	chr13	96648323	96648323	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattcagacttactttagtTtcccaaagagaaatccttga	13	13	5	10	0	1	3	1	1	0	2	3	4	3	3	3	0	1	1	3	0	4	6			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr13:96648323T>A	uc001vmt.3	-	6	994	c.824A>T	c.(823-825)aAa>aTa	p.K275I	UGGT2_uc010afo.3_Non-coding_Transcript|UGGT2_uc001vmv.3_Missense_Mutation_p.K275I	NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	275					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTACTTTAGTTTCCCAAAGAG	0.313													A	96648323	T	A	96648323	3	1	242	1	0	0	0	0	1	0	0	0	17044	1841	64	5	3858	5	UGGT2	13	96648323	Missense_Mutation	SNP	T	TCGA-41-2571-01A-01D-1495-08		96648323	18521555	41	16887											
C14orf135	64430	broad.mit.edu	37	chr14	60582118	60582118	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcaaactgtgactgtattCtttgagaagcaaactaggct	12	12	10	7	0	1	2	0	2	1	1	1	3	1	2	0	1	4	4	0	1	5	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr14:60582118C>G	uc001xer.4	+	2	1116	c.594C>G	c.(592-594)ttC>ttG	p.F198L	C14orf135_uc001xeq.2_Missense_Mutation_p.F198L|C14orf135_uc010apm.3_5'Flank	NM_022495	NP_071940	Q63HM2	CN135_HUMAN	Homo sapiens chromosome 14 open reading frame 135 (C14orf135), mRNA.	432						integral to membrane		p.V197V(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(585;0.163)		OV - Ovarian serous cystadenocarcinoma(108;0.127)		TGACTGTATTCTTTGAGAAGC	0.343													G	60582118	C	G	60582118	3	3	242	1	0	0	0	0	1	0	0	0	1758	912	32	4	600	4	C14orf135	14	60582118	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		60582118	46767422	42	16888											
MAP2K1	5604	broad.mit.edu	37	chr15	66679706	66679706	+	Frame_Shift_Del	DEL	G	G	-																															atgcccaagaagaagccgacGcccatccagctgaacccggc																										TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:66679706delG	uc010bhq.3	+	0	496	c.21delG	c.(19-21)acgfs	p.T7fs		NM_002755	NP_002746	Q02750	MP2K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 1 (MAP2K1), mRNA.	7					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20						AGAAGCCGACGCCCATCCAGC	0.697													-	66679706	G	-	66679706	7	5	242	1	0	1	0	1	0	0	0	0	9311	1074	38	0	23	0	MAP2K1	15	66679706	Frame_Shift_Del	DEL	G	TCGA-41-2571-01A-01D-1495-08		66679706	35851686	43	16889											
SLC28A1	9154	broad.mit.edu	37	chr15	85478399	85478399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcctggctgggagacatgGtggacatccaagggctcagc	8	8	14	11	0	2	1	1	0	1	1	4	3	3	2	2	5	1	2	2	5	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:85478399G>A	uc002blg.3	+	13	1559	c.1357G>A	c.(1357-1359)Gtg>Atg	p.V453M	SLC28A1_uc010bnb.3_Missense_Mutation_p.V453M|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.V453M|SLC28A1_uc010upg.1_Missense_Mutation_p.V453M	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	453					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGGAGACATGGTGGACATCCA	0.592													A	85478399	G	A	85478399	3	1	242	1	0	0	0	0	1	0	0	0	14625	1261	44	2	1474	2	SLC28A1	15	85478399	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	18798693	85478399	17052993	44	16890											
MFGE8	4240	broad.mit.edu	37	chr15	89453040	89453040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactcgtctcacagtggttgCccgcgtagcccttaaggcac	7	9	10	15	3	1	0	1	0	1	0	3	0	1	0	2	2	2	3	2	2	2	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr15:89453040C>T	uc002bng.4	-	1	301	c.188G>A	c.(187-189)gGc>gAc	p.G63D	MFGE8_uc002bnf.4_5'UTR|MFGE8_uc002bnh.4_Missense_Mutation_p.G63D|MFGE8_uc010bnn.3_Missense_Mutation_p.G55D|MFGE8_uc010upq.2_Intron|MFGE8_uc010bno.3_Intron	NM_005928	NP_005919	Q08431	MFGM_HUMAN	Homo sapiens milk fat globule-EGF factor 8 protein (MFGE8), transcript variant 1, mRNA.	63	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					ACAGTGGTTGCCCGCGTAGCC	0.572													T	89453040	C	T	89453040	3	4	242	1	0	0	0	0	1	0	0	0	9595	739	26	2	1003	2	MFGE8	15	89453040	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	3974641	89453040	13078352	45	16891											
ALDOA	226	broad.mit.edu	37	chr16	30080984	30080984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgccgcacagtgcccccCgctgtcactggtgaggccca	5	6	12	18	3	1	1	1	1	0	0	1	1	1	1	5	2	2	2	5	2	0	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:30080984C>T	uc010veg.2	+	7	1219	c.951C>T	c.(949-951)ccC>ccT	p.P317P	BOLA2_uc010bzb.1_Intron|ALDOA_uc002dvx.3_Silent_p.P263P|ALDOA_uc002dvw.3_Silent_p.P263P|ALDOA_uc002dvz.3_Silent_p.P263P|ALDOA_uc002dwa.4_Silent_p.P263P|ALDOA_uc002dwc.3_Silent_p.P263P	NM_001243177	NP_001230106	P04075	ALDOA_HUMAN	Homo sapiens aldolase A, fructose-bisphosphate (ALDOA), transcript variant 6, mRNA.	263					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CAGTGCCCCCCGCTGTCACTG	0.562													T	30080984	C	T	30080984	2	4	242	1	0	0	0	0	0	0	0	1	507	639	23	1		1	ALDOA	16	30080984	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		30080984	60273769	46	16892											
KIAA0182	23199	broad.mit.edu	37	chr16	85701868	85701868	+	Frame_Shift_Del	DEL	C	C	-																															agcacaatgggcagcaggagCcccccactgcaaggaagggc																										TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr16:85701868delC	uc002fix.3	+	13	3327	c.3253delC	c.(3253-3255)cccfs	p.P1085fs	KIAA0182_uc002fiw.3_Frame_Shift_Del_p.P981fs|KIAA0182_uc002fiy.3_Frame_Shift_Del_p.P1012fs|KIAA0182_uc002fiz.3_Frame_Shift_Del_p.P227fs|KIAA0182_uc010cho.3_Frame_Shift_Del_p.P265fs	NM_014615	NP_055430	Q14687	GSE1_HUMAN	Homo sapiens KIAA0182 (KIAA0182), transcript variant 1, mRNA.	1085							protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	35						GCAGCAGGAGCCCCCCACTGC	0.607													-	85701868	C	-	85701868	7	5	242	1	0	1	0	1	0	0	0	0	8217	739	26	0	3307	0	KIAA0182	16	85701868	Frame_Shift_Del	DEL	C	TCGA-41-2571-01A-01D-1495-08	55620884	85701868	4652885	47	16893											
ABR	29	broad.mit.edu	37	chr17	914060	914060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcgtcccggcgatggcGttgatgtccatgtcactcag	6	11	13	11	4	2	2	2	2	0	0	4	3	4	2	2	2	1	1	2	2	0	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:914060G>A	uc002fsd.3	-	19	2255	c.2145C>T	c.(2143-2145)aaC>aaT	p.N715N	ABR_uc002fse.3_Silent_p.N669N|ABR_uc010vqf.2_Silent_p.N166N|ABR_uc010vqg.2_Silent_p.N497N|ABR_uc002fsg.3_Silent_p.N678N|ABR_uc002fsh.1_Silent_p.N323N|ABR_uc002fsf.3_Silent_p.N252N	NM_021962	NP_001153218	Q12979	ABR_HUMAN	Homo sapiens active BCR-related gene (ABR), transcript variant 1, mRNA.	715	Rho-GAP.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CGGCGATGGCGTTGATGTCCA	0.637													A	914060	G	A	914060	2	1	242	1	0	0	0	0	0	0	0	1	99	1136	40	1		1	ABR	17	914060	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08		914060	80281150	48	16894											
MNT	4335	broad.mit.edu	37	chr17	2290511	2290511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaggcgccagttgcaccGcagggctgggggccgagggg	5	4	21	11	3	0	0	0	0	0	0	0	1	0	0	3	7	1	5	3	7	0	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:2290511G>A	uc002fur.3	-	5	1685	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_020310	NP_064706	Q99583	MNT_HUMAN	Homo sapiens MAX binding protein (MNT), mRNA.	478					multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CAGTTGCACCGCAGGGCTGGG	0.667													A	2290511	G	A	2290511	3	1	242	1	0	0	0	0	1	0	0	0	9754	1087	38	1	319	1	MNT	17	2290511	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	1376451	2290511	78904699	49	16895											
COL1A1	1277	broad.mit.edu	37	chr17	48268238	48268238	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagtcagaccacggacGccatctttgccaggagagcc	9	5	13	14	2	2	2	1	0	1	2	2	4	2	3	5	3	2	0	5	3	0	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:48268238G>T	uc002iqm.3	-	32	2409	c.2283C>A	c.(2281-2283)ggC>ggA	p.G761G		NM_000088	NP_000079	P02452	CO1A1_HUMAN	Homo sapiens collagen, type I, alpha 1 (COL1A1), mRNA.	761	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G761G(6)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	GACCACGGACGCCATCTTTGC	0.587			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						T	48268238	G	T	48268238	2	4	242	1	0	0	0	0	0	0	0	1	3708	1074	38	4		4	COL1A1	17	48268238	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	45977727	48268238	32926972	50	16896											
GPR142	350383	broad.mit.edu	37	chr17	72367987	72367987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtggtcatcgtgttcGcgggcttcctcctgcaggga	4	11	14	12	3	1	0	1	0	0	0	6	1	4	1	3	4	1	3	3	4	0	2			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr17:72367987G>A	uc021ucp.1	+	3	637	c.628G>A	c.(628-630)Gcg>Acg	p.A210T	GPR142_uc010wqy.2_Missense_Mutation_p.A213T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	213						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CATCGTGTTCGCGGGCTTCCT	0.652													A	72367987	G	A	72367987	3	1	242	1	0	0	0	0	1	0	0	0	6704	1087	38	1	651	1	GPR142	17	72367987	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	24099749	72367987	8827223	51	16897											
SLC14A2	8170	broad.mit.edu	37	chr18	43205722	43205722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggagtaaaaggaaagaCgacggggtggcccatcggga	15	3	17	6	3	0	1	0	0	0	1	1	6	0	4	1	6	0	1	1	6	4	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr18:43205722C>T	uc002lbe.3	+	2	1041	c.225C>T	c.(223-225)gaC>gaT	p.D75D	SLC14A2_uc002lbb.3_Silent_p.D75D|SLC14A2_uc010dnj.3_Silent_p.D75D	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	75						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AAAGGAAAGACGACGGGGTGG	0.517													T	43205722	C	T	43205722	2	4	242	1	0	0	0	0	0	0	0	1	14491	535	19	1		1	SLC14A2	18	43205722	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		43205722	34871526	52	16898											
DUS3L	56931	broad.mit.edu	37	chr19	5785666	5785666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccgggtcttctccacgcCctgcgtgtccgagccccagt	3	8	12	18	5	2	0	0	0	2	0	4	1	3	0	6	1	2	0	6	1	0	1			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:5785666C>T	uc002mdc.3	-	10	1796	c.1699G>A	c.(1699-1701)Ggc>Agc	p.G567S	PRR22_uc002mdb.1_5'Flank|PRR22_uc010xiv.1_5'Flank|DUS3L_uc002mdd.3_Missense_Mutation_p.G325S	NM_020175	NP_064560	Q96G46	DUS3L_HUMAN	Homo sapiens dihydrouridine synthase 3-like (S. cerevisiae) (DUS3L), transcript variant 1, mRNA.	567					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TTCTCCACGCCCTGCGTGTCC	0.706													T	5785666	C	T	5785666	3	4	242	1	0	0	0	0	1	0	0	0	4846	623	22	2	265	2	DUS3L	19	5785666	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		5785666	53343317	53	16899											
CD209	30835	broad.mit.edu	37	chr19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccacttctttgcaggCggtgatggagtcgtgccagt	5	10	14	12	2	1	1	0	1	1	0	2	2	1	2	3	4	2	1	3	4	0	2	rs139712001	byFrequency	TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:7809880C>T	uc002mht.2	-	4	914	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(2)|p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													T	7809880	C	T	7809880	3	4	242	1	0	0	0	0	1	0	0	0	3014	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	2024214	7809880	51319103	54	16900											
ARMC6	93436	broad.mit.edu	37	chr19	19166113	19166113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcaccctgcgagccatcGcaggcaacgacgacgtgaaa	12	4	12	13	5	0	2	0	2	0	0	1	5	0	2	2	1	4	3	2	1	2	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:19166113G>T	uc002nld.3	+	6	1495	c.1063G>T	c.(1063-1065)Gca>Tca	p.A355S	ARMC6_uc002nlc.3_Missense_Mutation_p.A330S|ARMC6_uc010xql.2_Missense_Mutation_p.A262S|ARMC6_uc010xqm.2_Missense_Mutation_p.A355S	NM_001199196	NP_001186125	Q6NXE6	ARMC6_HUMAN	Homo sapiens armadillo repeat containing 6 (ARMC6), transcript variant 1, mRNA.	355							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			GCGAGCCATCGCAGGCAACGA	0.627													T	19166113	G	T	19166113	3	4	242	1	0	0	0	0	1	0	0	0	960	1087	38	4	1006	4	ARMC6	19	19166113	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	11356233	19166113	39962870	55	16901											
PSG8	440533	broad.mit.edu	37	chr19	43259170	43259170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtaactgcGgatgccaccatattggtccc	8	9	13	11	1	0	1	0	1	0	0	1	2	1	2	3	4	3	1	3	4	2	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:43259170G>A	uc002ouo.2	-	3	1056	c.958C>T	c.(958-960)Cgc>Tgc	p.R320C	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG8_uc010eim.3_Intron|PSG8_uc002ouh.3_Missense_Mutation_p.R320C|PSG8_uc010ein.3_Missense_Mutation_p.R198C|PSG3_uc002oun.3_Intron	NM_182707	NP_874366	Q9UQ74	PSG8_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 8 (PSG8), transcript variant 1, mRNA.	320	Ig-like C2-type 2.					extracellular region		p.R320C(4)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GGGTAACTGCGGATGCCACCA	0.483													A	43259170	G	A	43259170	3	1	242	1	0	0	0	0	1	0	0	0	12746	1116	39	1	351	1	PSG8	19	43259170	Missense_Mutation	SNP	G	TCGA-41-2571-01A-01D-1495-08	24093057	43259170	15869813	56	16902											
FAM71E1	112703	broad.mit.edu	37	chr19	50978584	50978584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggtgggggcagttacccGaagagttgcaggtgtccgtt	7	10	17	7	2	0	2	0	1	0	1	1	3	1	2	2	4	2	5	2	4	2	3			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr19:50978584G>A	uc002psh.3	-	2	895	c.537C>T	c.(535-537)ttC>ttT	p.F179F	FAM71E1_uc002psg.3_Silent_p.F163F|FAM71E1_uc002psi.3_Non-coding_Transcript|C19orf63_uc021uyd.1_5'Flank|C19orf63_uc002psk.3_5'Flank|C19orf63_uc002psl.3_5'Flank	NM_138411	NP_612420	Q6IPT2	F71E1_HUMAN	Homo sapiens family with sequence similarity 71, member E1 (FAM71E1), mRNA.	179										breast(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.0077)|GBM - Glioblastoma multiforme(134;0.026)		GCAGTTACCCGAAGAGTTGCA	0.672													A	50978584	G	A	50978584	2	1	242	1	0	0	0	0	0	0	0	1	5661	1049	37	1		1	FAM71E1	19	50978584	Silent	SNP	G	TCGA-41-2571-01A-01D-1495-08	7719414	50978584	8150399	57	16903											
JAG1	182	broad.mit.edu	37	chr20	10653470	10653470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgaagctgcagggccccCcggccgtgacgcgggactga	7	3	16	15	5	0	2	0	2	0	0	0	4	0	3	5	3	3	2	5	3	1	0			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:10653470C>T	uc002wnw.2	-	1	782	c.266G>A	c.(265-267)gGg>gAg	p.G89E		NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	89					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGGGCCCCCCGGCCGTGAC	0.667									Alagille Syndrome				T	10653470	C	T	10653470	3	4	242	1	0	0	0	0	1	0	0	0	7992	623	22	2	3490	2	JAG1	20	10653470	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08		10653470	52372050	58	16904											
MACROD2	140733	broad.mit.edu	37	chr20	15210608	15210608	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccatactgtagggccAatagccaggggccatattaa	12	9	10	10	0	1	0	1	0	0	0	2	0	2	0	4	3	2	1	4	3	6	5			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr20:15210608A>T	uc002wou.3	+	5	705	c.441A>T	c.(439-441)ccA>ccT	p.P147P	MACROD2_uc002wot.3_Silent_p.P147P|MACROD2_uc002woz.3_5'UTR	NM_080676	NP_542407	A1Z1Q3	MACD2_HUMAN	Homo sapiens MACRO domain containing 2 (MACROD2), transcript variant 1, mRNA.	147	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				CTGTAGGGCCAATAGCCAGGG	0.353													T	15210608	A	T	15210608	2	4	242	1	0	0	0	0	0	0	0	1	9217	117	5	5		5	MACROD2	20	15210608	Silent	SNP	A	TCGA-41-2571-01A-01D-1495-08	4557138	15210608	47814912	59	16905											
C22orf43	51233	broad.mit.edu	37	chr22	23974205	23974205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacaacaggtcagtatattCcccatggggcctctccatgc	10	10	8	13	0	2	0	1	0	1	0	4	0	3	0	4	3	3	1	4	3	4	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:23974205C>T	uc002zxf.3	-	0	304	c.6G>A	c.(4-6)ggG>ggA	p.G2G		NM_016449	NP_057533	Q6PGQ1	CV043_HUMAN	Homo sapiens chromosome 22 open reading frame 43 (C22orf43), mRNA.	2										endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|skin(1)	11						TCAGTATATTCCCCATGGGGC	0.547													T	23974205	C	T	23974205	2	4	242	1	0	0	0	0	0	0	0	1	2171	842	30	2		2	C22orf43	22	23974205	Silent	SNP	C	TCGA-41-2571-01A-01D-1495-08		23974205	27330361	60	16906											
SF3A1	10291	broad.mit.edu	37	chr22	30738319	30738319	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacgttcctggaatttggcCcattccactcggtaacacac	9	11	7	14	2	1	0	1	0	0	0	4	1	3	1	3	3	1	2	3	3	2	4			TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:30738319C>T	uc003ahl.3	-	5	879	c.747G>A	c.(745-747)tgG>tgA	p.W249*	SF3A1_uc021wnt.1_Nonsense_Mutation_p.W184*	NM_005877	NP_005868	Q15459	SF3A1_HUMAN	Homo sapiens splicing factor 3a, subunit 1, 120kDa (SF3A1), transcript variant 1, mRNA.	249					nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|U2-type spliceosomal complex	protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|urinary_tract(1)	29						GGAATTTGGCCCATTCCACTC	0.542													T	30738319	C	T	30738319	4	4	242	1	0	0	0	0	0	1	0	0	14239	624	22	2	1678	2	SF3A1	22	30738319	Nonsense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	6764114	30738319	20566247	61	16907											
FAM118A	55007	broad.mit.edu	37	chr22	45723798	45723798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacctggagcagcacatcCggagtcctgtggtgctgcag	8	7	14	12	2	0	0	0	0	0	0	2	3	2	2	3	3	4	4	3	3	0	0	rs140683394		TCGA-41-2571-01A-01D-1495-08	TCGA-41-2571-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36349a22-17eb-48d8-9b69-1921ee7576ff	d83625bf-b6c1-45d8-b49a-e3ffeb2fc951	g.chr22:45723798C>T	uc003bfz.4	+	4	992	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	FAM118A_uc003bga.4_Missense_Mutation_p.R126W|DQ586951_uc021wri.1_5'Flank|DQ586951_uc011aqp.1_5'Flank|DQ586951_uc021wrj.1_5'Flank|DQ586951_uc011aqq.1_5'Flank|FAM118A_uc011aqr.2_5'Flank	NM_001104595	NP_060381	Q9NWS6	F118A_HUMAN	Homo sapiens family with sequence similarity 118, member A (FAM118A), transcript variant 1, mRNA.	126						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCAGCACATCCGGAGTCCTGT	0.592													T	45723798	C	T	45723798	3	4	242	1	0	0	0	0	1	0	0	0	5456	643	23	1	386	1	FAM118A	22	45723798	Missense_Mutation	SNP	C	TCGA-41-2571-01A-01D-1495-08	14985479	45723798	5580768	62	16908											
IL22RA1	58985	broad.mit.edu	37	chr1	24465095	24465095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatactcgatgctgtagacCgtgtctggggtgccctccgg	5	12	13	11	3	1	1	0	0	1	1	3	2	2	1	3	3	3	2	3	3	3	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:24465095C>T	uc001biq.2	-	1	356	c.153G>A	c.(151-153)acG>acA	p.T51T	IL22RA1_uc010oeg.1_5'Flank|IL22RA1_uc009vrb.2_5'UTR|IL22RA1_uc010oeh.2_Silent_p.T51T	NM_021258	NP_067081	Q8N6P7	I22R1_HUMAN	Homo sapiens interleukin 22 receptor, alpha 1 (IL22RA1), mRNA.	51	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		TGCTGTAGACCGTGTCTGGGG	0.567													T	24465095	C	T	24465095	2	4	243	1	0	0	0	0	0	0	0	1	7731	639	23	1		1	IL22RA1	1	24465095	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		24465095	224785526	1	16909											
PTAFR	5724	broad.mit.edu	37	chr1	28477494	28477494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcgggaagagagtgtatcgGaactcagagtccatgtggga	12	8	15	6	2	1	2	1	0	0	2	4	6	2	5	1	3	1	1	1	3	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:28477494G>A	uc009vte.3	-	2	374	c.39C>T	c.(37-39)ttC>ttT	p.F13F	PTAFR_uc021ojz.1_Silent_p.F13F|PTAFR_uc001bpl.3_Silent_p.F13F|PTAFR_uc001bpm.4_Silent_p.F13F|PTAFR_uc021oka.1_Silent_p.F13F	NM_001164721	NP_001158195	P25105	PTAFR_HUMAN	Homo sapiens platelet-activating factor receptor (PTAFR), transcript variant 1, mRNA.	13					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTGTATCGGAACTCAGAGT	0.527													A	28477494	G	A	28477494	2	1	243	1	0	0	0	0	0	0	0	1	12808	1165	41	2		2	PTAFR	1	28477494	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	4012399	28477494	220773127	2	16910											
GLIS1	148979	broad.mit.edu	37	chr1	53995480	53995480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccgtgtctaggtgggtgCgctggtgcttggcgcggtcg	2	11	18	10	5	1	0	0	0	1	0	2	0	1	0	1	5	3	2	1	5	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:53995480C>T	uc001cvr.1	-	3	1508	c.941G>A	c.(940-942)cGc>cAc	p.R314H		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	314					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						TAGGTGGGTGCGCTGGTGCTT	0.657													T	53995480	C	T	53995480	3	4	243	1	0	0	0	0	1	0	0	0	6501	768	27	1	949	1	GLIS1	1	53995480	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	25517986	53995480	195255141	3	16911											
ADAM30	11085	broad.mit.edu	37	chr1	120437661	120437661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacagttggcacctggttgCaacttacaatttgattggca	10	13	9	9	0	0	1	0	1	0	0	0	1	0	1	1	3	4	5	1	3	4	6			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:120437661C>A	uc001eij.3	-	0	1487	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	433	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CACCTGGTTGCAACTTACAAT	0.453													A	120437661	C	A	120437661	3	1	243	1	0	0	0	0	1	0	0	0	248	709	25	4	1077	4	ADAM30	1	120437661	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	66442181	120437661	128812960	4	16912											
SEMA4A	64218	broad.mit.edu	37	chr1	156126258	156126258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaagggcctccaggattttGacactctgctcctgagtggt	8	11	12	10	0	1	3	0	2	1	1	3	4	3	4	3	3	1	1	3	3	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:156126258G>C	uc001fnl.3	+	2	372	c.193G>C	c.(193-195)Gac>Cac	p.D65H	SEMA4A_uc009wrq.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnm.3_Missense_Mutation_p.D65H|SEMA4A_uc001fnn.3_5'UTR|SEMA4A_uc001fno.3_Missense_Mutation_p.D65H	NM_001193301	NP_071762	Q9H3S1	SEM4A_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A (SEMA4A), transcript variant 3, mRNA.	65	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CCAGGATTTTGACACTCTGCT	0.542													C	156126258	G	C	156126258	3	2	243	1	0	0	0	0	1	0	0	0	14124	1290	45	4	199	4	SEMA4A	1	156126258	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	35688597	156126258	93124363	5	16913											
ILDR2	387597	broad.mit.edu	37	chr1	166888604	166888604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacaacatcagaccacaagGgacatcctggttggaaagtc	14	7	10	10	0	1	2	1	1	0	1	3	4	2	4	2	3	1	1	2	3	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:166888604G>A	uc001gdx.2	-	9	1964	c.1908C>T	c.(1906-1908)tcC>tcT	p.S636S		NM_199351	NP_955383	Q71H61	ILDR2_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 2 (ILDR2), mRNA.	636						integral to membrane				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						AGACCACAAGGGACATCCTGG	0.438													A	166888604	G	A	166888604	2	1	243	1	0	0	0	0	0	0	0	1	7768	1219	43	2		2	ILDR2	1	166888604	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	10762346	166888604	82362017	6	16914											
PTPRC	5788	broad.mit.edu	37	chr1	198676014	198676014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagaatgtaaaaatgcGtctgtttccatatctcataa	14	14	5	8	1	2	1	1	0	2	1	4	1	3	1	1	0	2	2	1	0	7	5	rs137909392	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:198676014G>A	uc001gur.1	+	8	1011	c.831G>A	c.(829-831)gcG>gcA	p.A277A	PTPRC_uc001gut.1_Silent_p.A116A|PTPRC_uc009wzf.1_Silent_p.A165A|PTPRC_uc021pgy.1_Silent_p.A231A|PTPRC_uc010ppg.1_Silent_p.A213A	NM_002838	NP_002829	P08575	PTPRC_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, C (PTPRC), transcript variant 1, mRNA.	277					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GTAAAAATGCGTCTGTTTCCA	0.299													A	198676014	G	A	198676014	2	1	243	1	0	0	0	0	0	0	0	1	12885	1132	40	1		1	PTPRC	1	198676014	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	31787410	198676014	50574607	7	16915											
OR13G1	441933	broad.mit.edu	37	chr1	247835982	247835982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggaaacaaatggccAcatagcggtcataggccatg	15	5	13	8	1	1	1	1	0	0	1	1	3	1	2	2	4	2	0	2	4	5	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr1:247835982A>C	uc001idi.1	-	0	362	c.362T>G	c.(361-363)gTg>gGg	p.V121G		NM_001005487	NP_001005487	Q8NGZ3	O13G1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily G, member 1 (OR13G1), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACAAATGGCCACATAGCGGTC	0.478													C	247835982	A	C	247835982	3	2	243	1	0	0	0	0	1	0	0	0	11018	159	6	5	565	5	OR13G1	1	247835982	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	49159968	247835982	1414639	8	16916											
ITSN2	50618	broad.mit.edu	37	chr2	24435600	24435600	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcattcctttacaccgCgggtcagatgccagcttctg	7	10	12	12	2	2	1	1	0	1	1	3	1	3	1	3	3	3	2	3	3	1	4	rs146758206	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:24435600C>T	uc002rfe.2	-	32	4266	c.4008G>A	c.(4006-4008)ccG>ccA	p.P1336P	ITSN2_uc002rff.2_Silent_p.P1309P	NM_006277	NP_006268	Q9NZM3	ITSN2_HUMAN	Homo sapiens intersectin 2 (ITSN2), transcript variant 1, mRNA.	1336	DH.				endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.P1335P(2)|p.R1336R(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTTACACCGCGGGTCAGATG	0.542													T	24435600	C	T	24435600	2	4	243	1	0	0	0	0	0	0	0	1	7985	755	27	1		1	ITSN2	2	24435600	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		24435600	218763773	9	16917											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450522	107450522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgcgaattaatgatgcGtatggtggttttattcccaa	10	15	9	7	2	0	1	0	1	0	0	1	2	1	1	2	2	3	2	2	2	6	6			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:107450522G>A	uc002tdq.3	-	2	1143	c.1024C>T	c.(1024-1026)Cgc>Tgc	p.R342C	ST6GAL2_uc002tdr.3_Missense_Mutation_p.R342C|ST6GAL2_uc002tds.3_Missense_Mutation_p.R342C	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	342					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R342C(2)|p.I341V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TTAATGATGCGTATGGTGGTT	0.393													A	107450522	G	A	107450522	3	1	243	1	0	0	0	0	1	0	0	0	15318	1145	40	1	668	1	ST6GAL2	2	107450522	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	83014922	107450522	135748851	10	16918											
GALNT13	114805	broad.mit.edu	37	chr2	155099239	155099239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttgacattagagaattaCgtgaaaaatttagaagtgcc	17	11	9	4	1	0	4	0	2	0	2	0	5	0	4	1	0	2	1	1	0	8	5			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:155099239C>T	uc002tyt.4	+	3	611	c.507C>T	c.(505-507)taC>taT	p.Y169Y	GALNT13_uc002tyr.4_Silent_p.Y169Y|GALNT13_uc010foc.1_5'UTR	NM_052917	NP_443149	Q8IUC8	GLT13_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13) (GALNT13), mRNA.	169	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.Y169Y(2)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TAGAGAATTACGTGAAAAATT	0.353													T	155099239	C	T	155099239	2	4	243	1	0	0	0	0	0	0	0	1	6265	547	19	1		1	GALNT13	2	155099239	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	47648717	155099239	88100134	11	16919											
XIRP2	129446	broad.mit.edu	37	chr2	168105145	168105145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctaaaatcataacaggaAaaaccggtgtgttgccacct	15	8	9	9	1	1	0	1	0	0	0	1	1	1	1	3	3	3	2	3	3	5	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:168105145A>G	uc002udx.3	+	8	7332	c.7243A>G	c.(7243-7245)Aaa>Gaa	p.K2415E	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Missense_Mutation_p.K2240E|XIRP2_uc010fpq.3_Missense_Mutation_p.K2193E|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	2240					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CATAACAGGAAAAACCGGTGT	0.438													G	168105145	A	G	168105145	3	3	243	1	0	0	0	0	1	0	0	0	17532	15	1	3	7273	3	XIRP2	2	168105145	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	13005906	168105145	75094228	12	16920											
TTN	7273	broad.mit.edu	37	chr2	179398164	179398164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctttctcccattttaatGttggtggggggatgccagac	7	14	11	9	0	2	1	0	0	2	1	3	2	2	2	2	4	1	1	2	4	1	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr2:179398164G>A	uc021vsy.1	-	306	95699	c.95474C>T	c.(95473-95475)aCa>aTa	p.T31825I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.T25520I|TTN_uc021vta.1_Missense_Mutation_p.T25453I|TTN_uc021vtb.1_Missense_Mutation_p.T25328I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	32752	Fibronectin type-III 131.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTTAATGTTGGTGGGGG	0.463													A	179398164	G	A	179398164	3	1	243	1	0	0	0	0	1	0	0	0	16837	1377	48	2	4821	2	TTN	2	179398164	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	11293019	179398164	63801209	13	16921											
FBLN2	2199	broad.mit.edu	37	chr3	13659763	13659763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcttctcactgcaggaCgatggccgcacttgccgccc	5	8	11	17	3	1	0	1	0	1	0	2	2	1	1	4	3	2	3	4	3	0	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:13659763C>T	uc011avc.2	+	5	2299	c.1917C>T	c.(1915-1917)gaC>gaT	p.D639D	FBLN2_uc011auz.2_Silent_p.D665D|FBLN2_uc011avb.2_Silent_p.D639D|FBLN2_uc011ava.2_Silent_p.D639D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	639	EGF-like 1; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CACTGCAGGACGATGGCCGCA	0.612													T	13659763	C	T	13659763	2	4	243	1	0	0	0	0	0	0	0	1	5748	535	19	1		1	FBLN2	3	13659763	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		13659763	184362667	14	16922											
SCN10A	6336	broad.mit.edu	37	chr3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacgccagggtaatgaCgctaaaatccagccagttcc	12	8	8	13	2	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	4	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:38812783C>T	uc003ciq.3	-	3	586	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514	NP_006505	Q9Y5Y9	SCNAA_HUMAN	Homo sapiens sodium channel, voltage-gated, type X, alpha subunit (SCN10A), mRNA.	196					sensory perception	voltage-gated sodium channel complex		p.V196I(2)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458													T	38812783	C	T	38812783	3	4	243	1	0	0	0	0	1	0	0	0	14005	536	19	1	5380	1	SCN10A	3	38812783	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	25153020	38812783	159209647	15	16923											
GPX1	2876	broad.mit.edu	37	chr3	49395545	49395545	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagctcgttcatctgggtgTagtcccggaccgtggtgcct	4	11	14	12	3	2	0	1	0	1	0	4	1	3	1	3	3	2	4	3	3	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:49395545T>G	uc021wxw.1	-	0	247	c.167A>C	c.(166-168)tAc>tCc	p.Y56S	GPX1_uc021wxx.1_Missense_Mutation_p.Y56S	NM_000581	NP_000572	P07203	GPX1_HUMAN	Homo sapiens glutathione peroxidase 1 (GPX1), transcript variant 1, mRNA.	56					anti-apoptosis|cell redox homeostasis|glutathione metabolic process|heart contraction|hydrogen peroxide catabolic process|negative regulation of caspase activity|purine base metabolic process|purine nucleotide catabolic process|regulation of gene expression, epigenetic|regulation of mammary gland epithelial cell proliferation|regulation of proteasomal protein catabolic process|release of cytochrome c from mitochondria|response to selenium ion|UV protection	cytosol|mitochondrion	endopeptidase inhibitor activity|glutathione peroxidase activity|SH3 domain binding			breast(1)|large_intestine(2)|lung(1)	4				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Glutathione(DB00143)	CATCTGGGTGTAGTCCCGGAC	0.692													G	49395545	T	G	49395545	3	3	243	1	0	0	0	0	1	0	0	0	6794	1638	57	5	497	5	GPX1	3	49395545	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	10582762	49395545	148626885	16	16924											
KIAA1407	57577	broad.mit.edu	37	chr3	113684122	113684122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actaccttcctacgaagttgCtgtcgcctttcttcttttac	6	17	5	13	2	2	0	0	0	2	0	4	1	3	0	3	0	4	2	3	0	4	8			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:113684122C>T	uc003eax.3	-	16	2838	c.2691G>A	c.(2689-2691)caG>caA	p.Q897Q		NM_020817	NP_065868	Q8NCU4	K1407_HUMAN	Homo sapiens KIAA1407 (KIAA1407), mRNA.	897										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TACGAAGTTGCTGTCGCCTTT	0.408													T	113684122	C	T	113684122	2	4	243	1	0	0	0	0	0	0	0	1	8287	796	28	2		2	KIAA1407	3	113684122	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	64288577	113684122	84338308	17	16925											
RAB43	339122	broad.mit.edu	37	chr3	128813923	128813923	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctcctcttggtgatgtcGtaggcaaggatggccccatt	7	11	13	10	1	1	1	0	1	1	0	3	3	2	2	3	4	1	3	3	4	2	3	rs145101068		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:128813923G>A	uc003eln.2	-	1	609	c.294C>T	c.(292-294)taC>taT	p.Y98Y	ISY1-RAB43_uc003elo.2_Missense_Mutation_p.T314M|RAB43_uc021xdo.1_Nonsense_Mutation_p.R94*|RAB43_uc010hsy.2_Silent_p.Y98Y|RAB43_uc021xdp.1_Silent_p.Y98Y|RAB43_uc021xdq.1_Silent_p.Y98Y|RAB43_uc021xdr.1_Silent_p.Y98Y|RAB43_uc021xds.1_Silent_p.Y98Y	NM_198490	NP_940892	Q86YS6	RAB43_HUMAN	Homo sapiens RAB43, member RAS oncogene family (RAB43), transcript variant 1, mRNA.	98					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(2)|liver(1)|lung(2)|skin(1)	6						TGGTGATGTCGTAGGCAAGGA	0.572													A	128813923	G	A	128813923	2	1	243	1	0	0	0	0	0	0	0	1	13033	1140	40	1		1	RAB43	3	128813923	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	15129801	128813923	69208507	18	16926											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr3:178952085A>G	uc003fjk.3	+	20	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(3170)|p.H1047L(409)|p.H1047Y(46)|p.A1046T(6)|p.H1047Q(3)|p.A1046E(2)|p.H1047P(2)|p.A1046V(2)|p.A1046A(1)|p.H1047T(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	243	1	0	0	0	0	1	0	0	0	11990	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	50138162	178952085	19070345	19	16927											
SPON2	10417	broad.mit.edu	37	chr4	1161329	1161329	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggggctcccgttgttggcGggctggacccggacgtagcg	4	7	18	12	5	0	0	0	0	0	0	1	2	1	2	2	6	1	5	2	6	1	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:1161329G>A	uc003gco.4	-	5	1256	c.927C>T	c.(925-927)ccC>ccT	p.P309P	SPON2_uc021xkj.1_Silent_p.P309P|SPON2_uc010ibr.3_Silent_p.P309P|SPON2_uc003gcm.1_3'UTR	NM_012445	NP_036577	Q9BUD6	SPON2_HUMAN	Homo sapiens spondin 2, extracellular matrix protein (SPON2), transcript variant 1, mRNA.	309	TSP type-1.				axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		CGTTGTTGGCGGGCTGGACCC	0.682											OREG0016030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1161329	G	A	1161329	2	1	243	1	0	0	0	0	0	0	0	1	15179	1103	39	1		1	SPON2	4	1161329	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		1161329	189992947	20	16928											
HS3ST1	9957	broad.mit.edu	37	chr4	11401289	11401289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcttctccactgtgagcTggtgtggccaggagaagggc	6	9	17	9	0	2	2	0	1	2	1	3	3	2	2	2	5	1	1	2	5	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:11401289T>C	uc003gmq.3	-	1	664	c.341A>G	c.(340-342)cAg>cGg	p.Q114R	HS3ST1_uc021xmg.1_Missense_Mutation_p.Q114R	NM_005114	NP_005105	O14792	HS3S1_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 1 (HS3ST1), mRNA.	114						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACTGTGAGCTGGTGTGGCCA	0.617													C	11401289	T	C	11401289	3	2	243	1	0	0	0	0	1	0	0	0	7418	1580	55	3	586	3	HS3ST1	4	11401289	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	10239960	11401289	179752987	21	16929											
GRSF1	2926	broad.mit.edu	37	chr4	71691907	71691907	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaaatgcagagaagaCgtagttccaaaatcagcagc	17	6	10	8	1	1	2	1	0	0	2	2	4	2	3	1	1	3	4	1	1	6	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:71691907C>A	uc010iia.1	-	6	1274	c.1191G>T	c.(1189-1191)acG>acT	p.T397T	GRSF1_uc011caz.1_Silent_p.T279T|GRSF1_uc003hfs.2_Silent_p.T235T	NM_002092	NP_001091947	Q12849	GRSF1_HUMAN	Homo sapiens G-rich RNA sequence binding factor 1 (GRSF1), transcript variant 1, mRNA.	397					mRNA polyadenylation		mRNA binding|nucleotide binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|upper_aerodigestive_tract(2)	17		all_hematologic(202;0.21)	Lung(101;0.235)			GCAGAGAAGACGTAGTTCCAA	0.423													A	71691907	C	A	71691907	2	1	243	1	0	0	0	0	0	0	0	1	6864	523	19	4		4	GRSF1	4	71691907	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	60290618	71691907	119462369	22	16930											
TET2	54790	broad.mit.edu	37	chr4	106155901	106155901	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgagatcactcacccaTcgcatacctcagggcagatc	10	8	8	15	1	3	2	3	1	0	2	5	3	3	2	3	1	1	2	3	1	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:106155901T>G	uc011cez.2	+	2	1270	c.865T>G	c.(865-867)Tcg>Gcg	p.S289A	TET2_uc003hxk.3_Missense_Mutation_p.S268A|TET2_uc003hxj.2_Non-coding_Transcript|TET2_uc021xqk.1_Missense_Mutation_p.S268A|TET2_uc010ilp.2_Missense_Mutation_p.S268A|TET2_uc021xql.1_Missense_Mutation_p.S268A	NM_001127208	NP_001120680	Q6N021	TET2_HUMAN	Homo sapiens tet methylcytosine dioxygenase 2 (TET2), transcript variant 1, mRNA.	268					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.A289fs*4(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CACTCACCCATCGCATACCTC	0.498			"Mis N, F"		MDS								G	106155901	T	G	106155901	3	3	243	1	0	0	0	0	1	0	0	0	15870	1435	50	5	804	5	TET2	4	106155901	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	34463994	106155901	84998375	23	16931											
ACSL1	2180	broad.mit.edu	37	chr4	185681554	185681554	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctgagcaacaggctcaCttcgcatgtagatattttca	12	11	7	11	1	2	2	2	1	0	1	3	2	2	2	1	1	2	4	1	1	3	5			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr4:185681554C>G	uc003iww.2	-	17	2033	c.1739G>C	c.(1738-1740)aGt>aCt	p.S580T	ACSL1_uc011ckm.1_Missense_Mutation_p.S409T|ACSL1_uc003iwt.1_Missense_Mutation_p.S580T|ACSL1_uc003iwu.1_Missense_Mutation_p.S580T|ACSL1_uc011ckn.1_Missense_Mutation_p.S546T|ACSL1_uc003iws.1_Missense_Mutation_p.S140T	NM_001995	NP_001986	P33121	ACSL1_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 1 (ACSL1), mRNA.	580					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	AACAGGCTCACTTCGCATGTA	0.443													G	185681554	C	G	185681554	3	3	243	1	0	0	0	0	1	0	0	0	177	565	20	4	373	4	ACSL1	4	185681554	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	79525653	185681554	5472722	24	16932											
SLC30A5	64924	broad.mit.edu	37	chr5	68411085	68411085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtattattgctagtaCtggctttgtgttgtaaagtt	8	18	12	3	0	0	0	0	0	0	0	0	1	0	1	0	2	2	7	0	2	6	9			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:68411085C>G	uc003jvh.3	+	7	941	c.634C>G	c.(634-636)Ctg>Gtg	p.L212V	SLC30A5_uc003jvj.3_5'Flank|SLC30A5_uc003jvk.3_5'Flank|SLC30A5_uc003jvi.3_Missense_Mutation_p.L41V	NM_022902	NP_075053	Q8TAD4	ZNT5_HUMAN	Homo sapiens solute carrier family 30 (zinc transporter), member 5 (SLC30A5), transcript variant 1, mRNA.	212					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATTGCTAGTACTGGCTTTGTG	0.373													G	68411085	C	G	68411085	3	3	243	1	0	0	0	0	1	0	0	0	14652	564	20	4	752	4	SLC30A5	5	68411085	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		68411085	112504175	25	16933											
PCDHAC2	56145	broad.mit.edu	37	chr5	140180868	140180868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctcggaggtggggagcgGccagctccactactccgtct	6	7	14	14	3	1	0	0	0	1	0	4	2	3	2	4	5	4	1	4	5	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140180868G>A	uc003lhf.2	+	0	86	c.86G>A	c.(85-87)gGc>gAc	p.G29D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Missense_Mutation_p.G29D	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	42					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGGGAGCGGCCAGCTCCAC	0.637													A	140180868	G	A	140180868	3	1	243	1	0	0	0	0	1	0	0	0	11609	1203	42	2		2	PCDHAC2	5	140180868	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	71769783	140180868	40734392	26	16934											
PCDHGC5	56113	broad.mit.edu	37	chr5	140720212	140720212	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctggaccagaacgacaaCgcgcccgagatcctgtaccc	10	5	11	15	4	0	2	0	0	0	2	1	5	1	3	4	1	4	2	4	1	3	1	rs150000282	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr5:140720212C>T	uc003ljk.2	+	0	1859	c.1674C>T	c.(1672-1674)aaC>aaT	p.N558N	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.N558N	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	560	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAACGACAACGCGCCCGAGA	0.622													T	140720212	C	T	140720212	2	4	243	1	0	0	0	0	0	0	0	1	11647	535	19	1		1	PCDHGC5	5	140720212	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	539344	140720212	40195048	27	16935											
TRIM26	7726	broad.mit.edu	37	chr6	30153775	30153775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgttggtgaaagtcaCggtgcccccttcataatcca	8	11	9	13	2	3	1	2	1	1	0	4	1	4	1	3	2	2	1	3	2	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:30153775C>A	uc003npr.3	-	8	1707	c.1498G>T	c.(1498-1500)Gtg>Ttg	p.V500L	TRIM26_uc003nps.3_Missense_Mutation_p.V500L|TRIM26_uc003npt.3_Missense_Mutation_p.V500L|TRIM26_uc010jry.3_Missense_Mutation_p.V230L	NM_003449	NP_003440	Q12899	TRI26_HUMAN	Homo sapiens tripartite motif containing 26 (TRIM26), transcript variant 1, mRNA.	500	B30.2/SPRY.						DNA binding|zinc ion binding			lung(1)|ovary(2)	3						GTGAAAGTCACGGTGCCCCCT	0.627													A	30153775	C	A	30153775	3	1	243	1	0	0	0	0	1	0	0	0	16601	536	19	4	125	4	TRIM26	6	30153775	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		30153775	140961292	28	16936											
HLA-DPA1	3113	broad.mit.edu	37	chr6	33036842	33036842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccccagtgctccaccctGcagtcatagaagtcctctgc	9	8	8	16	0	2	1	1	0	1	1	4	1	4	1	5	0	4	2	5	0	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:33036842G>A	uc003ocs.2	-	2	689	c.582C>T	c.(580-582)tgC>tgT	p.C194C	HLA-DPA1_uc021ywg.1_Silent_p.C194C|HLA-DPA1_uc021ywh.1_Silent_p.C194C|HLA-DPA1_uc010juk.3_Silent_p.C194C	NM_033554	NP_291032	P20036	DPA1_HUMAN	Homo sapiens major histocompatibility complex, class II, DP alpha 1 (HLA-DPA1), transcript variant 1, mRNA.	194	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			kidney(5)|large_intestine(1)|lung(6)|prostate(1)|skin(2)	15						GCTCCACCCTGCAGTCATAGA	0.537													A	33036842	G	A	33036842	2	1	243	1	0	0	0	0	0	0	0	1	7257	1311	46	2		2	HLA-DPA1	6	33036842	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	2883067	33036842	138078225	29	16937											
FAM83B	222584	broad.mit.edu	37	chr6	54805390	54805390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttatactcattctcggcttCgttcctctttagtatttaaa	8	20	4	9	2	3	0	1	0	2	0	6	0	4	0	1	1	1	3	1	1	6	11			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:54805390C>T	uc003pck.3	+	4	1737	c.1621C>T	c.(1621-1623)Cgt>Tgt	p.R541C		NM_001010872	NP_001010872	Q5T0W9	FA83B_HUMAN	Homo sapiens family with sequence similarity 83, member B (FAM83B), mRNA.	541				R -> S (in Ref. 4; BAB70873).				p.R541L(2)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTCTCGGCTTCGTTCCTCTTT	0.418													T	54805390	C	T	54805390	3	4	243	1	0	0	0	0	1	0	0	0	5684	884	31	1	1635	1	FAM83B	6	54805390	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	21768548	54805390	116309677	30	16938											
PRIM2	5558	broad.mit.edu	37	chr6	57498985	57498985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agattttggatttagtaaagGggacacattaccaggtagcc	13	11	11	6	0	0	1	0	0	0	1	0	3	0	3	2	4	2	2	2	4	5	7			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr6:57498985G>C	uc003pdx.3	+	13	1333	c.1246G>C	c.(1246-1248)Ggg>Cgg	p.G416R		NM_000947	NP_000938	P49643	PRI2_HUMAN	Homo sapiens primase, DNA, polypeptide 2 (58kDa) (PRIM2), mRNA.	417					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		TTTAGTAAAGGGGACACATTA	0.299													C	57498985	G	C	57498985	3	2	243	1	0	0	0	0	1	0	0	0	12577	1232	43	4	1295	4	PRIM2	6	57498985	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	2693595	57498985	113616082	31	16939											
AHR	196	broad.mit.edu	37	chr7	17375305	17375305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggcatgatagttttccGgcttcttacaaaaaacaacc	14	11	7	9	1	1	1	0	1	1	0	2	1	2	1	2	2	3	3	2	2	7	5			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:17375305G>A	uc011jxz.1	+	8	1668	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q		NM_001621	NP_001612	P35869	AHR_HUMAN	Homo sapiens aryl hydrocarbon receptor (AHR), mRNA.	352	PAC.				apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATAGTTTTCCGGCTTCTTACA	0.333													A	17375305	G	A	17375305	3	1	243	1	0	0	0	0	1	0	0	0	416	1116	39	1	1089	1	AHR	7	17375305	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08		17375305	141763358	32	16940											
AOAH	313	broad.mit.edu	37	chr7	36571798	36571798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggaagacatccagccGtggcaggggctgacctgaga	9	8	15	9	1	0	3	0	2	0	2	1	5	1	4	3	4	1	3	3	4	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:36571798G>A	uc022abu.1	-	17	1781	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(4)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512													A	36571798	G	A	36571798	2	1	243	1	0	0	0	0	0	0	0	1	728	1136	40	1		1	AOAH	7	36571798	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	19196493	36571798	122566865	33	16941											
SMO	6608	broad.mit.edu	37	chr7	128843306	128843306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagtgtgagaatgaccGggtggagctgcccagccgta	9	6	15	11	2	0	2	0	2	0	1	0	4	0	3	4	2	3	2	4	2	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:128843306G>A	uc003vor.3	+	1	693	c.413G>A	c.(412-414)cGg>cAg	p.R138Q		NM_005631	NP_005622	Q99835	SMO_HUMAN	Homo sapiens smoothened, frizzled family receptor (SMO), mRNA.	138	FZ.				adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						GAGAATGACCGGGTGGAGCTG	0.672			Mis		skin basal cell								A	128843306	G	A	128843306	3	1	243	1	0	0	0	0	1	0	0	0	14894	1116	39	1	419	1	SMO	7	128843306	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	92271508	128843306	30295357	34	16942											
KEL	3792	broad.mit.edu	37	chr7	142639595	142639595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacagtctccccatggtgccGtaacagcctcttgctgtatg	7	11	10	13	1	2	0	0	0	2	0	3	1	2	0	4	1	4	3	4	1	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:142639595G>A	uc003wcb.3	-	17	2173	c.1963C>T	c.(1963-1965)Cgg>Tgg	p.R655W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	655					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R655W(2)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCATGGTGCCGTAACAGCCTC	0.597													A	142639595	G	A	142639595	3	1	243	1	0	0	0	0	1	0	0	0	8200	1144	40	1	243	1	KEL	7	142639595	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13796289	142639595	16499068	35	16943											
AGAP3	116988	broad.mit.edu	37	chr7	150835302	150835302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcggcctgggctggccCgcgccctgaggggctgcacc	3	5	16	17	3	0	1	0	1	0	0	1	1	0	1	4	5	2	4	4	5	0	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:150835302C>T	uc003wjg.1	+	11	1571	c.1568C>T	c.(1567-1569)cCg>cTg	p.P523L	AGAP3_uc003wje.1_Intron|AGAP3_uc003wjj.1_Intron|AGAP3_uc003wjk.1_5'Flank	NM_031946	NP_114152	Q96P47	AGAP3_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 3 (AGAP3), transcript variant 1, mRNA.	487	PH.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGGGCTGGCCCGCGCCCTGAG	0.716													T	150835302	C	T	150835302	3	4	243	1	0	0	0	0	1	0	0	0	369	652	23	1	1681	1	AGAP3	7	150835302	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	8195707	150835302	8303361	36	16944											
NUB1	51667	broad.mit.edu	37	chr7	151065966	151065966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccactcatattaccaaccGcagagaggtacccactttca	12	8	7	14	1	2	1	2	0	0	1	2	2	2	1	4	2	3	2	4	2	4	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr7:151065966G>A	uc003wjx.3	+	10	1329	c.1313G>A	c.(1312-1314)cGc>cAc	p.R438H	NUB1_uc003wjw.3_Missense_Mutation_p.R414H|AK055458_uc003wjz.1_5'Flank	NM_001243351	NP_001230280	Q9Y5A7	NUB1_HUMAN	Homo sapiens negative regulator of ubiquitin-like proteins 1 (NUB1), transcript variant 1, mRNA.	414	NEDD8-binding 1.|UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		ATTACCAACCGCAGAGAGGTA	0.483													A	151065966	G	A	151065966	3	1	243	1	0	0	0	0	1	0	0	0	10790	1087	38	1	1279	1	NUB1	7	151065966	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	230664	151065966	8072697	37	16945											
CTSB	1508	broad.mit.edu	37	chr8	11706616	11706616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgacacctccacgctgaCgtgcgcattggtgtggatgc	6	8	13	14	5	0	1	0	1	0	0	1	3	1	2	3	2	2	2	3	2	0	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:11706616C>T	uc003wuq.3	-	4	547	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	CTSB_uc003wul.3_5'Flank|CTSB_uc010lsc.3_Intron|CTSB_uc011kxl.2_Missense_Mutation_p.V50I|CTSB_uc003wum.3_Missense_Mutation_p.V129I|CTSB_uc003wun.3_Missense_Mutation_p.V129I|CTSB_uc003wuo.3_Missense_Mutation_p.V129I|CTSB_uc003wup.3_Missense_Mutation_p.V129I|CTSB_uc003wuu.3_5'UTR	NM_001908	NP_680093	P07858	CATB_HUMAN	Homo sapiens cathepsin B (CTSB), transcript variant 1, mRNA.	129					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		TCCACGCTGACGTGCGCATTG	0.642													T	11706616	C	T	11706616	3	4	243	1	0	0	0	0	1	0	0	0	4063	536	19	1	658	1	CTSB	8	11706616	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		11706616	134657406	38	16946											
FAM92A1	137392	broad.mit.edu	37	chr8	94713461	94713461	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttccctaggaacgctcaAacgaaacaactgcaaacagc	15	7	6	13	2	1	0	1	0	0	0	2	2	2	1	1	1	7	2	1	1	6	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr8:94713461A>G	uc022ayd.1	+	1	139	c.36A>G	c.(34-36)caA>caG	p.Q12Q	LINC00535_uc022ayb.1_5'Flank|FAM92A1_uc003yfu.1_Non-coding_Transcript|FAM92A1_uc022ayc.1_Silent_p.Q12Q	NM_145269	NP_660312	A1XBS5	F92A1_HUMAN	Homo sapiens family with sequence similarity 92, member A1 (FAM92A1), mRNA.	12										NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)	7	Breast(36;2.4e-06)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GGAACGCTCAAACGAAACAAC	0.453													G	94713461	A	G	94713461	2	3	243	1	0	0	0	0	0	0	0	1	5701	11	1	3		3	FAM92A1	8	94713461	Silent	SNP	A	TCGA-41-2572-01A-01D-1353-08	83006845	94713461	51650561	39	16947											
PIGO	84720	broad.mit.edu	37	chr9	35092240	35092240	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagcaggagtaacaggacGggcccagggatgggaaacag	15	2	16	8	1	0	0	0	0	0	0	0	4	0	4	1	5	4	2	1	5	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35092240G>T	uc003zwd.3	-	6	2040	c.1644C>A	c.(1642-1644)ccC>ccA	p.P548P	PIGO_uc003zwe.3_Intron|PIGO_uc003zwf.3_Intron|PIGO_uc003zwc.1_3'UTR|PIGO_uc003zwg.2_Silent_p.P111P	NM_032634	NP_116023	Q8TEQ8	PIGO_HUMAN	Homo sapiens phosphatidylinositol glycan anchor biosynthesis, class O (PIGO), transcript variant 1, mRNA.	548					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity	p.G547E(1)		endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTAACAGGACGGGCCCAGGGA	0.577													T	35092240	G	T	35092240	2	4	243	1	0	0	0	0	0	0	0	1	11971	1103	39	4		4	PIGO	9	35092240	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		35092240	106121191	40	16948											
RUSC2	9853	broad.mit.edu	37	chr9	35561054	35561054	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagcccaaggagagcctgCaggagccacactccccagcc	11	2	11	17	0	0	2	0	0	0	2	1	4	1	3	6	2	5	1	6	2	1	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr9:35561054C>G	uc003zww.3	+	10	4564	c.4309C>G	c.(4309-4311)Cag>Gag	p.Q1437E	RUSC2_uc010mkq.3_Non-coding_Transcript|RUSC2_uc003zwx.4_Missense_Mutation_p.Q1437E	NM_014806	NP_055621	Q8N2Y8	RUSC2_HUMAN	Homo sapiens RUN and SH3 domain containing 2 (RUSC2), mRNA.	1437						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGAGCCTGCAGGAGCCACA	0.657													G	35561054	C	G	35561054	3	3	243	1	0	0	0	0	1	0	0	0	13842	711	25	4	4347	4	RUSC2	9	35561054	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	468814	35561054	105652377	41	16949											
PHRF1	57661	broad.mit.edu	37	chr11	607162	607162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgccctccgggagccCggcccaaggcccgtcaggaa	8	3	13	17	3	1	0	1	0	0	0	2	2	2	2	5	4	3	1	5	4	2	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:607162C>A	uc001lqe.3	+	13	1837	c.1706C>A	c.(1705-1707)cCg>cAg	p.P569Q	PHRF1_uc010qwc.2_Missense_Mutation_p.P568Q|PHRF1_uc010qwd.2_Missense_Mutation_p.P567Q|PHRF1_uc010qwe.2_Missense_Mutation_p.P565Q|PHRF1_uc009ybz.1_Missense_Mutation_p.P359Q|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	569							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						TCCGGGAGCCCGGCCCAAGGC	0.662													A	607162	C	A	607162	3	1	243	1	0	0	0	0	1	0	0	0	11938	652	23	4	1753	4	PHRF1	11	607162	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		607162	134399354	42	16950											
SLC3A2	6520	broad.mit.edu	37	chr11	62623803	62623803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattccgcgccagttgcctgGctcacattcggaggctggtg	5	10	14	12	3	1	0	1	0	0	0	3	2	2	1	3	4	1	3	3	4	0	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:62623803G>T	uc001nwd.3	+	0	320	c.62G>T	c.(61-63)gGc>gTc	p.G21V	SLC3A2_uc001nwc.3_Missense_Mutation_p.G21V|SLC3A2_uc001nwf.3_Missense_Mutation_p.G21V|SNHG1_uc001nvr.3_5'Flank|SNHG1_uc001nvs.3_5'Flank|SNHG1_uc001nvt.3_5'Flank|SNHG1_uc001nvu.3_5'Flank|SNHG1_uc009yoj.1_5'Flank|SNORD30_uc001nvw.1_5'Flank|SNHG1_uc001nvx.2_5'Flank|SNORD22_uc021qkn.1_5'Flank|SNORD28_uc001nvy.1_5'Flank|SNHG1_uc001nvz.2_5'Flank|SNHG1_uc009yok.1_5'Flank|SNHG1_uc001nwa.4_5'Flank	NM_002394	NP_001013269	P08195	4F2_HUMAN	Homo sapiens solute carrier family 3 (activators of dibasic and neutral amino acid transport), member 2 (SLC3A2), transcript variant 3, mRNA.	21					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding	p.G21V(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CAGTTGCCTGGCTCACATTCG	0.647													T	62623803	G	T	62623803	3	4	243	1	0	0	0	0	1	0	0	0	14721	1203	42	4	64	4	SLC3A2	11	62623803	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	62016641	62623803	72382713	43	16951											
P2RY2	5029	broad.mit.edu	37	chr11	72945627	72945627	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttacgacctctgcgctcCctgcgctggggccgggcccg	2	8	14	17	5	2	0	0	0	2	0	3	1	3	0	4	3	3	2	4	3	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:72945627C>T	uc021qna.1	+	0	423	c.423C>T	c.(421-423)tcC>tcT	p.S141S	P2RY2_uc001otk.3_Silent_p.S141S|P2RY2_uc001otj.3_Silent_p.S141S|P2RY2_uc001otl.3_Silent_p.S141S	NM_176072	NP_788086	P41231	P2RY2_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 2 (P2RY2), transcript variant 1, mRNA.	141					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CTCTGCGCTCCCTGCGCTGGG	0.662													T	72945627	C	T	72945627	2	4	243	1	0	0	0	0	0	0	0	1	11428	610	22	2		2	P2RY2	11	72945627	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	10321824	72945627	62060889	44	16952											
SNX19	399979	broad.mit.edu	37	chr11	130781567	130781567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctggtttctcctccagacGggtctgcagattcaagaact	9	12	9	11	1	4	3	1	0	3	3	6	3	5	3	2	2	2	2	2	2	2	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr11:130781567G>T	uc001qgk.4	-	1	2322	c.1774C>A	c.(1774-1776)Cgt>Agt	p.R592S	SNX19_uc010sce.2_5'UTR|SNX19_uc010scf.2_Missense_Mutation_p.R35S|SNX19_uc010scg.2_5'UTR|SNX19_uc001qgl.3_Missense_Mutation_p.R592S|SNX19_uc009zcx.1_Non-coding_Transcript	NM_014758	NP_055573	Q92543	SNX19_HUMAN	Homo sapiens sorting nexin 19 (SNX19), mRNA.	592	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding	p.R592S(2)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCTCCAGACGGGTCTGCAGA	0.557													T	130781567	G	T	130781567	3	4	243	1	0	0	0	0	1	0	0	0	14984	1116	39	4	1244	4	SNX19	11	130781567	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	57835940	130781567	4224949	45	16953											
WNT5B	81029	broad.mit.edu	37	chr12	1749108	1749108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagcagggccgggtgcTcatgaacctgcaaaacaacg	13	4	14	10	2	1	2	1	1	0	1	1	3	1	3	2	3	6	3	2	3	4	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:1749108T>C	uc009zdq.3	+	3	829	c.587T>C	c.(586-588)cTc>cCc	p.L196P	WNT5B_uc001qjj.3_Missense_Mutation_p.L196P|WNT5B_uc001qjk.3_Missense_Mutation_p.L196P|WNT5B_uc001qjl.3_Missense_Mutation_p.L196P	NM_032642	NP_116031	Q9H1J7	WNT5B_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 5B (WNT5B), transcript variant 1, mRNA.	196					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GGCCGGGTGCTCATGAACCTG	0.632													C	1749108	T	C	1749108	3	2	243	1	0	0	0	0	1	0	0	0	17494	1551	54	3	597	3	WNT5B	12	1749108	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08		1749108	132102787	46	16954											
FGD4	121512	broad.mit.edu	37	chr12	32791721	32791722	+	Frame_Shift_Ins	INS	-	-	C																															tgtgctgtacatgtatggtgINSccccccaggtatctaaacca																										TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:32791721_32791722insC	uc010ske.2	+	15	2455_2456	c.2371_2372insC	c.(2371-2373)gccfs	p.A791fs	FGD4_uc001rlc.3_Frame_Shift_Ins_p.A764fs|FGD4_uc001rky.3_Frame_Shift_Ins_p.A431fs|FGD4_uc001rkz.3_Frame_Shift_Ins_p.A679fs|FGD4_uc001rla.3_Frame_Shift_Ins_p.A335fs|FGD4_uc001rlb.1_Non-coding_Transcript	NM_139241	NP_640334	Q96M96	FGD4_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 4 (FGD4), mRNA.	679					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding	p.A679V(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					CATGTATGGTGCCCCCCAGGTA	0.505													C	32791722	-	C	32791721	7	5	243	1	0	1	1	0	0	0	0	0	5884	1319	46	0	2089	0	FGD4	12	32791721	Frame_Shift_Ins	INS	-	TCGA-41-2572-01A-01D-1353-08	31042613	32791721	101060174	47	16955											
OR8S1	341568	broad.mit.edu	37	chr12	48921845	48921845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaaccccaaggggcctgcGcatgctccgcgctgcgcgcg	5	5	13	18	6	1	0	1	0	0	0	2	0	2	0	4	2	4	3	4	2	2	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:48921845G>A	uc010slu.2	+	1	1039	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_001005203	NP_001005203	Q8NH09	OR8S1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily S, member 1 (OR8S1), mRNA.	347					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|skin(4)	22						AGGGGCCTGCGCATGCTCCGC	0.662													A	48921845	G	A	48921845	3	1	243	1	0	0	0	0	1	0	0	0	11322	1087	38	1	1045	1	OR8S1	12	48921845	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	16130124	48921845	84930050	48	16956											
SCYL2	55681	broad.mit.edu	37	chr12	100717360	100717360	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatagactacccatccatgAaaaacgctttgataccaaga	16	10	5	10	1	0	4	0	2	0	2	1	4	1	4	3	0	3	1	3	0	7	5			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:100717360A>C	uc001thn.3	+	10	1503	c.1453A>C	c.(1453-1455)Aaa>Caa	p.K485Q	SCYL2_uc009ztw.1_Missense_Mutation_p.K312Q|SCYL2_uc001thm.1_Missense_Mutation_p.K485Q	NM_017988	NP_060458	Q6P3W7	SCYL2_HUMAN	Homo sapiens SCY1-like 2 (S. cerevisiae) (SCYL2), mRNA.	485					endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CCCATCCATGAAAAACGCTTT	0.318													C	100717360	A	C	100717360	3	2	243	1	0	0	0	0	1	0	0	0	14041	247	9	5	1491	5	SCYL2	12	100717360	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	51795515	100717360	33134535	49	16957											
ANO4	121601	broad.mit.edu	37	chr12	101520784	101520784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaagcagaactggaacGtctccagaaggaacgaaagg	16	5	13	7	2	1	3	0	1	1	2	2	6	1	5	1	3	4	2	1	3	7	1	rs143188971	byFrequency	TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr12:101520784G>A	uc010svm.1	+	26	3376	c.2804G>A	c.(2803-2805)cGt>cAt	p.R935H	ANO4_uc001thw.2_Missense_Mutation_p.R900H|ANO4_uc001thx.2_Missense_Mutation_p.R935H|ANO4_uc001thy.2_Missense_Mutation_p.R455H	NM_178826	NP_849148	Q32M45	ANO4_HUMAN	Homo sapiens anoctamin 4 (ANO4), mRNA.	935						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						GAACTGGAACGTCTCCAGAAG	0.483										HNSCC(74;0.22)			A	101520784	G	A	101520784	3	1	243	1	0	0	0	0	1	0	0	0	699	1145	40	1	2797	1	ANO4	12	101520784	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	803424	101520784	32331111	50	16958											
RYR3	6263	broad.mit.edu	37	chr15	33916210	33916210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctttcatcccatgccccGtagacaccagtcaggtaggt	8	10	8	15	1	3	1	2	0	1	1	4	1	4	1	5	2	1	2	5	2	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:33916210G>A	uc001zhi.3	+	19	2630	c.2560G>A	c.(2560-2562)Gta>Ata	p.V854I	RYR3_uc010bar.3_Missense_Mutation_p.V854I	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	854	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCCATGCCCCGTAGACACCAG	0.433													A	33916210	G	A	33916210	3	1	243	1	0	0	0	0	1	0	0	0	13861	1145	40	1	2638	1	RYR3	15	33916210	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08		33916210	68615182	51	16959											
ACAN	176	broad.mit.edu	37	chr15	89389067	89389067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattcaccagtgaggacctCgtcgtgcaggtgaccgctgt	7	9	13	12	3	1	2	1	2	0	0	3	3	1	3	3	2	1	3	3	2	0	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr15:89389067C>T	uc010upo.1	+	6	1757	c.1383C>T	c.(1381-1383)ctC>ctT	p.L461L	ACAN_uc002bmx.3_Silent_p.L461L|ACAN_uc010upp.1_Silent_p.L461L|ACAN_uc002bna.2_Non-coding_Transcript	NM_013227	NP_037359	E7EX88	E7EX88_HUMAN	Homo sapiens aggrecan (ACAN), transcript variant 2, mRNA.	461					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GTGAGGACCTCGTCGTGCAGG	0.652													T	89389067	C	T	89389067	2	4	243	1	0	0	0	0	0	0	0	1	117	871	31	1		1	ACAN	15	89389067	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08	55472857	89389067	13142325	52	16960											
MVP	9961	broad.mit.edu	37	chr16	29858658	29858658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcagatgacagaggccatAggccccagcaccatcaggga	14	3	12	12	0	1	3	1	1	0	2	1	4	1	4	4	3	2	2	4	3	2	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:29858658A>G	uc002dui.3	+	13	2558	c.2406A>G	c.(2404-2406)atA>atG	p.I802M	BOLA2_uc010bzb.1_Intron|MVP_uc002duj.3_Missense_Mutation_p.I802M|MVP_uc010vea.2_Missense_Mutation_p.I396M	NM_005115	NP_059447	Q14764	MVP_HUMAN	Homo sapiens major vault protein (MVP), transcript variant 2, mRNA.	802					mRNA transport|protein transport|response to drug|transmembrane transport	cytoplasm|nuclear pore|ribonucleoprotein complex	protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(7)|ovary(2)|skin(3)|soft_tissue(1)|stomach(1)	27						CAGAGGCCATAGGCCCCAGCA	0.582													G	29858658	A	G	29858658	3	3	243	1	0	0	0	0	1	0	0	0	10072	410	15	3	2456	3	MVP	16	29858658	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08		29858658	60496095	53	16961											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67477041	67477041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatctcgatgttcatctcGtcaaggtcctgctctgaaat	9	14	8	10	2	5	2	2	2	3	0	8	3	6	2	1	1	1	2	1	1	2	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:67477041G>A	uc010vjo.1	-	4	745	c.645C>T	c.(643-645)gaC>gaT	p.D215D	ATP6V0D1_uc002ete.1_Silent_p.D174D|ATP6V0D1_uc010vjn.1_Silent_p.D97D	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	174					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		TGTTCATCTCGTCAAGGTCCT	0.567													A	67477041	G	A	67477041	2	1	243	1	0	0	0	0	0	0	0	1	1178	1136	40	1		1	ATP6V0D1	16	67477041	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	37618383	67477041	22877712	54	16962											
HYDIN	54768	broad.mit.edu	37	chr16	70908762	70908762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgatgtagatatacgCggtggtgggcctccctttca	6	13	12	10	2	2	2	1	1	1	1	3	2	3	2	2	3	1	1	2	3	3	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr16:70908762C>T	uc002ezr.3	-	62	10766	c.10615G>A	c.(10615-10617)Gcg>Acg	p.A3539T		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3540										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TAGATATACGCGGTGGTGGGC	0.507													T	70908762	C	T	70908762	3	4	243	1	0	0	0	0	1	0	0	0	7525	768	27	1	4843	1	HYDIN	16	70908762	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	3431721	70908762	19445991	55	16963											
RABEP1	9135	broad.mit.edu	37	chr17	5235422	5235422	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagtggagagaagaagtTgcttcacttcaggctgttat	12	11	12	6	0	2	3	2	0	0	3	2	5	2	4	0	2	1	4	0	2	3	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:5235422T>G	uc002gbm.4	+	2	566	c.342T>G	c.(340-342)gtT>gtG	p.V114V	RABEP1_uc010clc.1_Silent_p.V114V|RABEP1_uc010cld.1_Silent_p.V71V|RABEP1_uc010vsw.1_Silent_p.V71V|RABEP1_uc002gbl.4_Silent_p.V114V|RABEP1_uc002gbj.3_Silent_p.V114V|RABEP1_uc002gbk.2_Silent_p.V114V	NM_004703	NP_004694	Q15276	RABE1_HUMAN	Homo sapiens rabaptin, RAB GTPase binding effector protein 1 (RABEP1), transcript variant 1, mRNA.	114					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAGAAGAAGTTGCTTCACTTC	0.378													G	5235422	T	G	5235422	2	3	243	1	0	0	0	0	0	0	0	1	13049	1799	63	5		5	RABEP1	17	5235422	Silent	SNP	T	TCGA-41-2572-01A-01D-1353-08		5235422	75959788	56	16964											
MYH4	4622	broad.mit.edu	37	chr17	10358985	10358985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcctttcctgcagatgCggatgccttccagcacaccg	8	8	11	14	2	0	1	0	0	0	1	2	3	2	3	5	2	5	2	5	2	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10358985C>A	uc002gmn.3	-	18	2231	c.2120G>T	c.(2119-2121)cGc>cTc	p.R707L	AK097500_uc002gml.1_Intron	NM_017533	NP_060003	Q9Y623	MYH4_HUMAN	Homo sapiens myosin, heavy chain 4, skeletal muscle (MYH4), mRNA.	707	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCTGCAGATGCGGATGCCTTC	0.468													A	10358985	C	A	10358985	3	1	243	1	0	0	0	0	1	0	0	0	10113	768	27	4	3787	4	MYH4	17	10358985	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	5123563	10358985	70836225	57	16965											
MYH1	4619	broad.mit.edu	37	chr17	10408543	10408543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcacatggcctgggttCgggtaatcagctgggccagc	6	9	14	12	1	2	0	1	0	1	0	3	0	2	0	2	4	3	4	2	4	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:10408543C>T	uc002gmo.3	-	20	2466	c.2372G>A	c.(2371-2373)cGa>cAa	p.R791Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	791	IQ.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTGGGTTCGGGTAATCAG	0.458													T	10408543	C	T	10408543	3	4	243	1	0	0	0	0	1	0	0	0	10105	884	31	1	3527	1	MYH1	17	10408543	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	49558	10408543	70786667	58	16966											
USP22	23326	broad.mit.edu	37	chr17	20931977	20931977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccacagacatggcagataCaggacttggcctgaaattca	13	7	10	11	1	1	3	1	1	0	2	1	4	1	4	2	3	1	1	2	3	2	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:20931977C>T	uc002gym.4	-	1	386	c.182G>A	c.(181-183)tGt>tAt	p.C61Y	USP22_uc002gyn.4_Missense_Mutation_p.C49Y|USP22_uc002gyl.4_5'UTR	NM_015276	NP_056091	Q9UPT9	UBP22_HUMAN	Homo sapiens ubiquitin specific peptidase 22 (USP22), mRNA.	61					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						ATGGCAGATACAGGACTTGGC	0.517													T	20931977	C	T	20931977	3	4	243	1	0	0	0	0	1	0	0	0	17156	478	17	2	1443	2	USP22	17	20931977	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	10523434	20931977	60263233	59	16967											
C17orf70	80233	broad.mit.edu	37	chr17	79517665	79517665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctctgtcttcaaggccccTatgaagatgacgggctcctc	7	10	11	13	1	3	3	1	2	2	1	5	3	4	3	3	3	0	2	3	3	3	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr17:79517665T>C	uc002kaq.3	-	2	928	c.855A>G	c.(853-855)atA>atG	p.I285M	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.I134M	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	285					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCAAGGCCCCTATGAAGATGA	0.577													C	79517665	T	C	79517665	3	2	243	1	0	0	0	0	1	0	0	0	1893	1512	53	3	1818	3	C17orf70	17	79517665	Missense_Mutation	SNP	T	TCGA-41-2572-01A-01D-1353-08	58585688	79517665	1677545	60	16968											
LAMA1	284217	broad.mit.edu	37	chr18	7034562	7034562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagtcatcagctggtcaCgatcaatctgccttttgctg	8	12	10	11	1	5	0	4	0	1	0	5	2	5	1	1	2	3	2	1	2	1	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:7034562C>T	uc002knm.3	-	13	2061	c.1967G>A	c.(1966-1968)cGt>cAt	p.R656H	LAMA1_uc010wzj.2_Missense_Mutation_p.R132H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	656	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.R656H(2)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTGGTCACGATCAATCTG	0.423													T	7034562	C	T	7034562	3	4	243	1	0	0	0	0	1	0	0	0	8664	536	19	1	7460	1	LAMA1	18	7034562	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		7034562	71042686	61	16969											
SERPINB7	8710	broad.mit.edu	37	chr18	61465969	61465969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccataaattgccatttcAaatctcccaaggtatgtcgt	14	12	5	10	1	2	0	1	0	1	0	4	0	2	0	3	1	2	1	3	1	6	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr18:61465969A>G	uc002ljl.3	+	5	682	c.586A>G	c.(586-588)Aaa>Gaa	p.K196E	SERPINB7_uc002ljm.3_Missense_Mutation_p.K196E|SERPINB7_uc010xet.2_Missense_Mutation_p.K179E|SERPINB7_uc010dqg.3_Missense_Mutation_p.K196E	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	196					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TTGCCATTTCAAATCTCCCAA	0.403													G	61465969	A	G	61465969	3	3	243	1	0	0	0	0	1	0	0	0	14199	131	5	3	604	3	SERPINB7	18	61465969	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	54431407	61465969	16611279	62	16970											
PALM	5064	broad.mit.edu	37	chr19	746493	746493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcaggcacagccaggCgaggccacgtccggcccgcc	6	3	16	16	4	0	0	0	0	0	0	1	1	1	0	5	5	2	2	5	5	0	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:746493C>T	uc002lpm.1	+	8	1037	c.843C>T	c.(841-843)ggC>ggT	p.G281G	PALM_uc002lpn.1_Silent_p.G237G|PALM_uc010xfu.1_Silent_p.G146G	NM_002579	NP_002570	O75781	PALM_HUMAN	Homo sapiens paralemmin (PALM), transcript variant 1, mRNA.	281					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		CACAGCCAGGCGAGGCCACGT	0.726													T	746493	C	T	746493	2	4	243	1	0	0	0	0	0	0	0	1	11484	755	27	1		1	PALM	19	746493	Silent	SNP	C	TCGA-41-2572-01A-01D-1353-08		746493	58382490	63	16971											
CD97	976	broad.mit.edu	37	chr19	14513618	14513618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactcccccatccttttcGccttctcccaccttgagtcc	5	13	3	20	1	2	1	1	1	1	0	7	1	5	1	7	0	1	0	7	0	1	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:14513618G>A	uc002myl.3	+	11	1773	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	CD97_uc002mym.3_Missense_Mutation_p.A416T|CD97_uc002myn.3_Missense_Mutation_p.A372T	NM_078481	NP_510966	P48960	CD97_HUMAN	Homo sapiens CD97 molecule (CD97), transcript variant 1, mRNA.	465					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CATCCTTTTCGCCTTCTCCCA	0.567													A	14513618	G	A	14513618	3	1	243	1	0	0	0	0	1	0	0	0	3079	1087	38	1	1439	1	CD97	19	14513618	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13767125	14513618	44615365	64	16972											
FAM32A	26017	broad.mit.edu	37	chr19	16301334	16301334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcttctctctccagcaaAtggaaaggatcctaaagaag	13	10	8	10	0	3	1	0	0	3	1	7	3	4	3	2	2	1	1	2	2	5	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:16301334A>G	uc002ndt.3	+	2	239	c.220A>G	c.(220-222)Atg>Gtg	p.M74V		NM_014077	NP_054796	Q9Y421	FA32A_HUMAN	Homo sapiens family with sequence similarity 32, member A (FAM32A), mRNA.	74	Lys-rich.					nucleolus				lung(1)	1						TCTCCAGCAAATGGAAAGGAT	0.562													G	16301334	A	G	16301334	3	3	243	1	0	0	0	0	1	0	0	0	5603	101	4	3	230	3	FAM32A	19	16301334	Missense_Mutation	SNP	A	TCGA-41-2572-01A-01D-1353-08	1787716	16301334	42827649	65	16973											
CD22	933	broad.mit.edu	37	chr19	35832290	35832290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaaatcaagcccctttccGagattcactctggaaactcg	12	9	8	12	2	3	1	2	0	1	1	5	4	4	3	3	2	2	0	3	2	4	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:35832290G>A	uc010edt.3	+	7	1636	c.1552G>A	c.(1552-1554)Gag>Aag	p.E518K	CD22_uc010edu.3_Missense_Mutation_p.E430K|CD22_uc010edv.3_Missense_Mutation_p.E518K|CD22_uc002nzb.4_Missense_Mutation_p.E341K|CD22_uc010xst.2_Missense_Mutation_p.E346K|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	518	Ig-like C2-type 5.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCCCCTTTCCGAGATTCACTC	0.572													A	35832290	G	A	35832290	3	1	243	1	0	0	0	0	1	0	0	0	3015	1059	37	1	1578	1	CD22	19	35832290	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	19530956	35832290	23296693	66	16974											
HKR1	284459	broad.mit.edu	37	chr19	37853831	37853831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcattacccaccagagggcGcacactggggagaagcctta	11	6	11	13	1	1	2	1	0	0	2	1	3	1	2	3	3	2	1	3	3	3	2			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:37853831G>A	uc002ogb.3	+	5	1403	c.1134G>A	c.(1132-1134)gcG>gcA	p.A378A	HKR1_uc002ofx.3_Silent_p.A94A|HKR1_uc002ofy.3_Silent_p.A94A|HKR1_uc002oga.3_Silent_p.A360A|HKR1_uc010xto.2_Silent_p.A360A|HKR1_uc002ogc.3_Silent_p.A359A|HKR1_uc010xtp.2_Silent_p.A317A|HKR1_uc002ogd.3_Silent_p.A317A	NM_181786	NP_861451	P10072	HKR1_HUMAN	Homo sapiens HKR1, GLI-Kruppel zinc finger family member (HKR1), mRNA.	378					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACCAGAGGGCGCACACTGGGG	0.532													A	37853831	G	A	37853831	2	1	243	1	0	0	0	0	0	0	0	1	7249	1074	38	1		1	HKR1	19	37853831	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	2021541	37853831	21275152	67	16975											
ACPT	93650	broad.mit.edu	37	chr19	51295361	51295361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccatgcgcagctgtccccGataccacgagctgctgcggg	6	6	12	17	4	0	0	0	0	0	0	1	2	1	0	5	1	6	4	5	1	1	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:51295361G>A	uc002pta.1	+	4	482	c.482G>A	c.(481-483)cGa>cAa	p.R161Q		NM_033068	NP_149059	Q9BZG2	PPAT_HUMAN	Homo sapiens acid phosphatase, testicular (ACPT), mRNA.	161						integral to membrane	acid phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(3)	11		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AGCTGTCCCCGATACCACGAG	0.692													A	51295361	G	A	51295361	3	1	243	1	0	0	0	0	1	0	0	0	168	1058	37	1	500	1	ACPT	19	51295361	Missense_Mutation	SNP	G	TCGA-41-2572-01A-01D-1353-08	13441530	51295361	7833622	68	16976											
BIRC8	112401	broad.mit.edu	37	chr19	53794413	53794413	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatataggacttgtccaccGtctcgcgccaggatagcggc	9	8	12	12	4	1	0	0	0	1	0	3	3	2	2	3	3	1	0	3	3	4	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:53794413G>A	uc002qbk.3	-	0						NM_033341	NP_203127	Q96P09	BIRC8_HUMAN	Homo sapiens baculoviral IAP repeat containing 8 (BIRC8), mRNA.						apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		CTTGTCCACCGTCTCGCGCCA	0.527													A	53794413	G	A	53794413	1	1	243	1	0	0	0	0	0	0	0	0	1446	1160	40	1		1	BIRC8	19	53794413	Translation_Start_Site	SNP	G	TCGA-41-2572-01A-01D-1353-08	2499052	53794413	5334570	69	16977											
LILRB2	10288	broad.mit.edu	37	chr19	54784355	54784355	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgatgggggtcatggcGtctcctcccactgccctgct	4	10	13	14	2	2	1	1	1	1	0	4	2	3	1	3	3	2	1	3	3	0	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:54784355G>A	uc002qfb.3	-	1					LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_5'UTR|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_5'UTR|LILRB2_uc010yet.2_5'UTR|LILRB2_uc010yeu.1_Non-coding_Transcript|MIR4752_uc021vbj.1_5'Flank	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.						cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGTCATGGCGTCTCCTCCCA	0.592													A	54784355	G	A	54784355	1	1	243	1	0	0	0	0	0	0	0	0	8851	1160	40	1		1	LILRB2	19	54784355	Translation_Start_Site	SNP	G	TCGA-41-2572-01A-01D-1353-08	989942	54784355	4344628	70	16978											
HSPBP1	23640	broad.mit.edu	37	chr19	55776732	55776732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcccgacactcgcgcaCaccctgcggaaagtctgtca	8	6	10	17	5	2	0	1	0	1	0	4	2	3	1	2	2	1	2	2	2	1	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55776732C>T	uc002qkd.3	-	7	1253	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	HSPBP1_uc002qjx.3_Missense_Mutation_p.V353M|HSPBP1_uc002qkc.3_Missense_Mutation_p.V307M|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	310					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CACTCGCGCACACCCTGCGGA	0.657													T	55776732	C	T	55776732	3	4	243	1	0	0	0	0	1	0	0	0	7484	478	17	2	168	2	HSPBP1	19	55776732	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	992377	55776732	3352251	71	16979											
HSPBP1	23640	broad.mit.edu	37	chr19	55777302	55777302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggctgtgctctgtcCgcaccagggccaccagctgc	6	6	15	14	1	1	0	0	0	1	0	2	1	2	1	4	4	3	4	4	4	1	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:55777302C>T	uc002qkd.3	-	6	1179	c.845G>A	c.(844-846)cGg>cAg	p.R282Q	HSPBP1_uc002qjx.3_Missense_Mutation_p.R328Q|HSPBP1_uc002qkc.3_Missense_Mutation_p.R282Q|X05128_uc002qke.3_5'Flank	NM_001130106	NP_036399	Q9NZL4	HPBP1_HUMAN	Homo sapiens HSPA (heat shock 70kDa) binding protein, cytoplasmic cochaperone 1 (HSPBP1), transcript variant 2, mRNA.	285					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding		enzyme inhibitor activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|urinary_tract(1)	8			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		GTGCTCTGTCCGCACCAGGGC	0.687													T	55777302	C	T	55777302	3	4	243	1	0	0	0	0	1	0	0	0	7484	652	23	1	246	1	HSPBP1	19	55777302	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	570	55777302	3351681	72	16980											
ZSCAN1	284312	broad.mit.edu	37	chr19	58564905	58564905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggactgtgatctcgagccCcaagggtccaagtgctcaga	10	7	13	11	1	2	2	1	1	1	1	4	4	3	3	3	2	2	1	3	2	2	0			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr19:58564905C>T	uc002qrc.1	+	5	960	c.713C>T	c.(712-714)cCc>cTc	p.P238L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	238					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ATCTCGAGCCCCAAGGGTCCA	0.617													T	58564905	C	T	58564905	3	4	243	1	0	0	0	0	1	0	0	0	18325	623	22	2	727	2	ZSCAN1	19	58564905	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	2787603	58564905	564078	73	16981											
MYBL2	4605	broad.mit.edu	37	chr20	42331498	42331498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcctgtaacagcctcacGcccaagagcacacctgttaa	12	8	7	14	1	1	1	1	0	0	1	2	2	2	1	4	0	3	3	4	0	3	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr20:42331498G>A	uc002xlb.1	+	7	1535	c.1320G>A	c.(1318-1320)acG>acA	p.T440T	MYBL2_uc010zwj.1_Silent_p.T416T	NM_002466	NP_002457	P10244	MYBB_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 2 (MYBL2), mRNA.	440						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			ACAGCCTCACGCCCAAGAGCA	0.582													A	42331498	G	A	42331498	2	1	243	1	0	0	0	0	0	0	0	1	10086	1074	38	1		1	MYBL2	20	42331498	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		42331498	20694022	74	16982											
CCT8L2	150160	broad.mit.edu	37	chr22	17072504	17072504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctagcttgaatcaccaCgatgccatacttgtccgcca	11	9	7	14	2	1	2	1	1	0	1	2	3	2	2	5	0	3	1	5	0	3	4			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chr22:17072504C>T	uc002zlp.1	-	0	1197	c.937G>A	c.(937-939)Gtg>Atg	p.V313M		NM_014406	NP_055221	Q96SF2	TCPQM_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 8 (theta)-like 2 (CCT8L2), mRNA.	313					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	p.V313M(2)		breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGAATCACCACGATGCCATAC	0.557													T	17072504	C	T	17072504	3	4	243	1	0	0	0	0	1	0	0	0	2991	536	19	1	740	1	CCT8L2	22	17072504	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08		17072504	34232062	75	16983											
P2RY8	286530	broad.mit.edu	37	chrX	1584669	1584669	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtagaacaggcggctcacGatgtgcgccaggagcacgaa	11	4	14	12	5	1	1	1	0	0	1	1	4	1	2	2	3	3	3	2	3	3	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:1584669G>A	uc022brv.1	-	0	783	c.783C>T	c.(781-783)atC>atT	p.I261I	CRLF2_uc022brt.1_Intron|P2RY8_uc004cpz.2_Silent_p.I261I	NM_178129	NP_835230	Q86VZ1	P2RY8_HUMAN	Homo sapiens purinergic receptor P2Y, G-protein coupled, 8 (P2RY8), mRNA.	261						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.I261I(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGCGGCTCACGATGTGCGCCA	0.612			T	CRLF2	"B-ALL, Downs associated ALL"								A	1584669	G	A	1584669	2	1	243	1	0	0	0	0	0	0	0	1	11431	1048	37	1		1	P2RY8	23	1584669	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08		1584669	153685891	76	16984											
GSPT2	23708	broad.mit.edu	37	chrX	51487887	51487887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaggacattcactttatgCcctgctcaggactgaccgga	12	9	9	11	1	2	1	2	1	0	0	2	4	2	4	2	3	2	1	2	3	3	3			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:51487887C>T	uc004dpl.3	+	0	1407	c.1165C>T	c.(1165-1167)Ccc>Tcc	p.P389S		NM_018094	NP_060564	Q8IYD1	ERF3B_HUMAN	Homo sapiens G1 to S phase transition 2 (GSPT2), mRNA.	389					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TCACTTTATGCCCTGCTCAGG	0.393													T	51487887	C	T	51487887	3	4	243	1	0	0	0	0	1	0	0	0	6882	739	26	2	1167	2	GSPT2	23	51487887	Missense_Mutation	SNP	C	TCGA-41-2572-01A-01D-1353-08	49903218	51487887	103782673	77	16985											
PFKFB1	5207	broad.mit.edu	37	chrX	54986328	54986328	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccagggcgcactgccTgaaatagaccaggaaagaaa	14	4	13	10	1	0	3	0	1	0	2	0	4	0	4	3	3	2	2	3	3	4	1			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:54986328T>C	uc004dty.1	-	4	389	c.318_splice	c.e4-1	p.K106_splice	PFKFB1_uc010nkd.1_Splice_Site_p.K92_splice|PFKFB1_uc011mol.1_Splice_Site_p.K41_splice	NM_002625	NP_002616	P16118	F261_HUMAN	Homo sapiens 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 (PFKFB1), mRNA.	106	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GCGCACTGCCTGAAATAGACC	0.443													C	54986328	T	C	54986328	5	2	243	1	0	0	0	0	0	0	1	0	11837	1594	55	3	1143	3	PFKFB1	23	54986328	Splice_Site	SNP	T	TCGA-41-2572-01A-01D-1353-08	3498441	54986328	100284232	78	16986											
IL13RA2	3598	broad.mit.edu	37	chrX	114248418	114248418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattgccaattgtaatatacGcaatccatatcctgaacttt	13	15	4	9	1	0	1	0	1	0	0	2	1	2	1	3	0	3	2	3	0	8	8			TCGA-41-2572-01A-01D-1353-08	TCGA-41-2572-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	66384543-cff1-44f0-9920-9abe126ca32e	4d73babf-b967-4617-9050-48ddebf9c0d4	g.chrX:114248418G>A	uc004epx.3	-	4	560	c.435C>T	c.(433-435)tgC>tgT	p.C145C	IL13RA2_uc010nqd.1_Silent_p.C145C|IL13RA2_uc022cdb.1_Silent_p.C145C	NM_000640	NP_000631	Q14627	I13R2_HUMAN	Homo sapiens interleukin 13 receptor, alpha 2 (IL13RA2), mRNA.	145	Fibronectin type-III 2.					extracellular space|integral to membrane|soluble fraction	cytokine receptor activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	23						TGTAATATACGCAATCCATAT	0.328													A	114248418	G	A	114248418	2	1	243	1	0	0	0	0	0	0	0	1	7688	1079	38	1		1	IL13RA2	23	114248418	Silent	SNP	G	TCGA-41-2572-01A-01D-1353-08	59262090	114248418	41022142	79	16987											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854536	12854536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataatgaactccaaggaCggttagttgccaaattcagc	14	9	9	9	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	5	4	rs1063777		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:12854536C>T	uc001auj.2	+	2	863	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W		NM_023013	NP_075389	O95521	PRAM1_HUMAN	Homo sapiens PRAME family member 1 (PRAMEF1), mRNA.	254								p.G253G(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCAAGGACGGTTAGTTGC	0.438													T	12854536	C	T	12854536	3	4	244	1	0	0	0	0	1	0	0	0	12507	527	19	1	766	1	PRAMEF1	1	12854536	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		12854536	236396085	1	16988											
KIF17	57576	broad.mit.edu	37	chr1	21016727	21016727	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggacagcctgacgtcAtatgagttgcgcatggcagt	9	9	14	9	3	1	2	1	2	0	0	1	3	1	3	1	2	3	3	1	2	1	2	rs143130602		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:21016727A>G	uc001bdr.4	-	6	1453	c.1335T>C	c.(1333-1335)taT>taC	p.Y445Y	KIF17_uc009vpx.3_Missense_Mutation_p.M1T|KIF17_uc001bds.4_Silent_p.Y445Y	NM_020816	NP_065867	Q9P2E2	KIF17_HUMAN	Homo sapiens kinesin family member 17 (KIF17), transcript variant 1, mRNA.	445					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		GCCTGACGTCATATGAGTTGC	0.627													G	21016727	A	G	21016727	2	3	244	1	0	0	0	0	0	0	0	1	8337	224	8	3		3	KIF17	1	21016727	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08	8162191	21016727	228233894	2	16989											
SLC44A5	204962	broad.mit.edu	37	chr1	75708631	75708631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcccagtagcttttgtcTtttgtgtacaaaagttgcat	8	18	7	8	0	2	0	0	0	2	0	3	0	3	0	1	0	3	5	1	0	4	8			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:75708631T>A	uc010oqz.1	-	6	594	c.528A>T	c.(526-528)aaA>aaT	p.K176N	SLC44A5_uc001dgt.2_Missense_Mutation_p.K137N|SLC44A5_uc001dgs.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgr.2_Missense_Mutation_p.K95N|SLC44A5_uc001dgu.3_Missense_Mutation_p.K137N|SLC44A5_uc010ora.2_Missense_Mutation_p.K131N|SLC44A5_uc010orb.2_Missense_Mutation_p.K7N	NM_001130058	NP_001123530	Q8NCS7	CTL5_HUMAN	Homo sapiens solute carrier family 44, member 5 (SLC44A5), transcript variant 2, mRNA.	137						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGCTTTTGTCTTTTGTGTACA	0.393													A	75708631	T	A	75708631	3	1	244	1	0	0	0	0	1	0	0	0	14733	1606	56	5	1927	5	SLC44A5	1	75708631	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	54691904	75708631	173541990	3	16990											
PLA2G4A	5321	broad.mit.edu	37	chr1	186863259	186863259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggatgccaattatgtcatGgatgaaactctagggacagc	13	10	11	7	0	2	1	1	1	1	0	2	4	2	4	1	3	3	0	1	3	4	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:186863259G>A	uc001gsc.3	+	4	499	c.294G>A	c.(292-294)atG>atA	p.M98I	PLA2G4A_uc010pos.2_Missense_Mutation_p.M98I	NM_024420	NP_077734	P47712	PA24A_HUMAN	Homo sapiens phospholipase A2, group IVA (cytosolic, calcium-dependent) (PLA2G4A), mRNA.	98	C2.|Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	ATTATGTCATGGATGAAACTC	0.338													A	186863259	G	A	186863259	3	1	244	1	0	0	0	0	1	0	0	0	12078	1348	47	2	308	2	PLA2G4A	1	186863259	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	111154628	186863259	62387362	4	16991											
RYR2	6262	broad.mit.edu	37	chr1	237632425	237632425	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaatcgtaaaaactgtgCtcaattttctggctccctcg	11	12	8	10	2	2	0	1	0	1	0	5	1	3	1	1	2	2	3	1	2	5	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr1:237632425C>G	uc001hyl.1	+	16	1766	c.1646C>G	c.(1645-1647)gCt>gGt	p.A549G		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	549					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.Q548P(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAACTGTGCTCAATTTTCT	0.373													G	237632425	C	G	237632425	3	3	244	1	0	0	0	0	1	0	0	0	13860	797	28	4	1712	4	RYR2	1	237632425	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	50769166	237632425	11618196	5	16992											
NBAS	51594	broad.mit.edu	37	chr2	15564456	15564456	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacctgccgagcataatgctCtatttcctctgctctggtct	6	14	7	14	1	4	0	0	0	4	0	5	1	5	0	3	1	4	3	3	1	2	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:15564456C>G	uc002rcc.1	-	22	2586	c.2560G>C	c.(2560-2562)Gag>Cag	p.E854Q	NBAS_uc010exl.1_Missense_Mutation_p.E46Q|NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	854										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GCATAATGCTCTATTTCCTCT	0.502													G	15564456	C	G	15564456	3	3	244	1	0	0	0	0	1	0	0	0	10262	922	32	4	4675	4	NBAS	2	15564456	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		15564456	227634917	6	16993											
XDH	7498	broad.mit.edu	37	chr2	31588885	31588885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggacaccacagtgctccGggtctccttgcctccaaagc	7	8	10	16	2	1	0	0	0	1	0	4	1	3	1	5	2	3	1	5	2	1	1	rs140007233		TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:31588885G>A	uc002rnv.1	-	21	2492	c.2413C>T	c.(2413-2415)Cgg>Tgg	p.R805W		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	805					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	ACAGTGCTCCGGGTCTCCTTG	0.527													A	31588885	G	A	31588885	3	1	244	1	0	0	0	0	1	0	0	0	17528	1115	39	1	1648	1	XDH	2	31588885	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	16024429	31588885	211610488	7	16994											
DQX1	165545	broad.mit.edu	37	chr2	74747143	74747143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcactgagtggaggaCgggtaaacccaggggcagct	9	7	15	10	1	1	1	0	1	1	0	1	3	1	3	1	5	3	4	1	5	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr2:74747143C>T	uc010yrw.2	-	8	1679	c.1514G>A	c.(1513-1515)cGt>cAt	p.R505H	DQX1_uc002smc.3_Missense_Mutation_p.R66H	NM_133637	NP_598376	Q8TE96	DQX1_HUMAN	Homo sapiens DEAQ box RNA-dependent ATPase 1 (DQX1), mRNA.	505						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GAGTGGAGGACGGGTAAACCC	0.527													T	74747143	C	T	74747143	3	4	244	1	0	0	0	0	1	0	0	0	4790	536	19	1	655	1	DQX1	2	74747143	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	43158258	74747143	168452230	8	16995											
OSBPL10	114884	broad.mit.edu	37	chr3	31921180	31921180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctctccattagcagagtAcaccaccagcatgtggggag	11	8	10	12	0	1	1	0	0	1	1	3	2	2	2	3	2	3	3	3	2	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:31921180A>G	uc021wuu.1	-	1	1095	c.424T>C	c.(424-426)Tac>Cac	p.Y142H	OSBPL10_uc011axf.2_Missense_Mutation_p.Y142H	NM_017784	NP_060254	Q9BXB5	OSB10_HUMAN	Homo sapiens oxysterol binding protein-like 10 (OSBPL10), transcript variant 1, mRNA.	142	PH.				lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		TTAGCAGAGTACACCACCAGC	0.483													G	31921180	A	G	31921180	3	3	244	1	0	0	0	0	1	0	0	0	11351	391	14	3	1914	3	OSBPL10	3	31921180	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08		31921180	166101250	9	16996											
IMPDH2	3615	broad.mit.edu	37	chr3	49064276	49064276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaggtctgtccgggcaatGatggccacaagctcatcatc	9	10	10	12	1	4	1	3	1	1	0	6	1	5	1	2	3	1	2	2	3	2	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:49064276G>A	uc003cvt.3	-	6	755	c.663C>T	c.(661-663)atC>atT	p.I221I		NM_000884	NP_000875	P12268	IMDH2_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 2 (IMPDH2), mRNA.	221	CBS 2.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	TCCGGGCAATGATGGCCACAA	0.527													A	49064276	G	A	49064276	2	1	244	1	0	0	0	0	0	0	0	1	7785	1280	45	2		2	IMPDH2	3	49064276	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	17143096	49064276	148958154	10	16997											
HCLS1	3059	broad.mit.edu	37	chr3	121351248	121351248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagtccccctctggttcatCctcctgctcatgcctgtcca	5	13	6	17	0	3	0	2	0	1	0	7	0	7	0	6	1	2	2	6	1	1	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:121351248C>T	uc003eeh.4	-	11	1296	c.1171G>A	c.(1171-1173)Gat>Aat	p.D391N	HCLS1_uc011bjj.2_Missense_Mutation_p.D354N|HCLS1_uc011bjk.1_Non-coding_Transcript	NM_005335	NP_005326	P14317	HCLS1_HUMAN	Homo sapiens hematopoietic cell-specific Lyn substrate 1 (HCLS1), mRNA.	391					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		TCTGGTTCATCCTCCTGCTCA	0.552													T	121351248	C	T	121351248	3	4	244	1	0	0	0	0	1	0	0	0	7050	855	30	2	301	2	HCLS1	3	121351248	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	72286972	121351248	76671182	11	16998											
LEKR1	389170	broad.mit.edu	37	chr3	156763431	156763431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagagggttagatcaggCgtgcccattctcccccagcc	8	7	11	15	2	2	2	1	0	1	2	3	3	2	2	5	2	2	1	5	2	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr3:156763431C>T	uc021xgh.1	+	12	2085	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	LEKR1_uc003fba.1_Non-coding_Transcript	NM_001004316	NP_001004316	D3DNK7	D3DNK7_HUMAN	Homo sapiens leucine, glutamate and lysine rich 1 (LEKR1), transcript variant 1, mRNA.	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTAGATCAGGCGTGCCCATTC	0.537													T	156763431	C	T	156763431	2	4	244	1	0	0	0	0	0	0	0	1	8776	755	27	1		1	LEKR1	3	156763431	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	35412183	156763431	41258999	12	16999											
ZNF718	152687	broad.mit.edu	37	chr4	60030	60030	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgaagatacatgagacAgcagccaaacccccaggtag	16	6	9	10	0	0	3	0	2	0	2	0	4	0	3	3	1	4	2	3	1	5	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:60030A>T	uc003fzv.1	+	2	366	c.210A>T	c.(208-210)acA>acT	p.T70T	ZNF718_uc003fzt.4_Silent_p.T70T|ZNF718_uc003fzu.1_Non-coding_Transcript|ZNF718_uc010iay.1_Non-coding_Transcript|ZNF718_uc011bus.1_Intron|ZNF718_uc011but.1_Intron	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		TACATGAGACAGCAGCCAAAC	0.468													T	60030	A	T	60030	2	4	244	1	0	0	0	0	0	0	0	1	18221	175	7	5		5	ZNF718	4	60030	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08		60030	191094246	13	17000											
UGT2A3	79799	broad.mit.edu	37	chr4	69795704	69795704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatcgcaggtgcttggCtcctttgtggcgcatgacaa	7	11	13	10	2	0	2	0	2	0	0	2	2	1	2	1	3	2	5	1	3	1	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr4:69795704C>A	uc003hef.2	-	5	1442	c.1411G>T	c.(1411-1413)Gcc>Tcc	p.A471S	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	471						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTGCTTGGCTCCTTTGTGG	0.488													A	69795704	C	A	69795704	3	1	244	1	0	0	0	0	1	0	0	0	17057	797	28	4	176	4	UGT2A3	4	69795704	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	69735674	69795704	121358572	14	17001											
HSPB3	8988	broad.mit.edu	37	chr5	53751481	53751481	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggcctaattaagtgatTgcgtctgggcacggctataa	10	12	11	8	2	2	1	1	1	1	0	2	1	2	1	1	3	1	2	1	3	4	6			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:53751481T>G	uc003jph.2	+	0						NM_006308	NP_006299	Q12988	HSPB3_HUMAN	Homo sapiens heat shock 27kDa protein 3 (HSPB3), mRNA.						cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				ATTAAGTGATTGCGTCTGGGC	0.488													G	53751481	T	G	53751481	1	3	244	1	0	0	0	0	0	0	0	0	7478	1827	63	5		5	HSPB3	5	53751481	Translation_Start_Site	SNP	T	TCGA-41-2573-01A-01D-1495-08		53751481	127163779	15	17002											
MAP3K1	4214	broad.mit.edu	37	chr5	56179395	56179395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccaaagcaaaacaaccGtatagagaagacactgaatg	20	5	7	9	1	0	3	0	1	0	2	0	4	0	3	2	0	4	2	2	0	9	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:56179395G>A	uc003jqw.4	+	14	4209	c.3708G>A	c.(3706-3708)ccG>ccA	p.P1236P		NM_005921	NP_005912	Q13233	M3K1_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 1 (MAP3K1), mRNA.	1236					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CAAAACAACCGTATAGAGAAG	0.383													A	56179395	G	A	56179395	2	1	244	1	0	0	0	0	0	0	0	1	9318	1132	40	1		1	MAP3K1	5	56179395	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	2427914	56179395	124735865	16	17003											
GPR98	84059	broad.mit.edu	37	chr5	89985863	89985863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaggcagtcattattattGaggcctctgatgacccctat	10	12	9	10	0	2	4	1	3	1	1	2	4	2	4	3	2	0	1	3	2	3	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:89985863G>C	uc003kju.3	+	29	6772	c.6676G>C	c.(6676-6678)Gag>Cag	p.E2226Q	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2226					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CATTATTATTGAGGCCTCTGA	0.378													C	89985863	G	C	89985863	3	2	244	1	0	0	0	0	1	0	0	0	6776	1291	45	4	6794	4	GPR98	5	89985863	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	33806468	89985863	90929397	17	17004											
FTMT	94033	broad.mit.edu	37	chr5	121187869	121187869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctctcgggtgcgccagAacttccaccccgactccgag	6	6	10	19	4	1	1	0	0	1	1	4	3	3	1	7	1	2	0	7	1	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:121187869A>G	uc003kss.3	+	0	220	c.211A>G	c.(211-213)Aac>Gac	p.N71D		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	71	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		GGTGCGCCAGAACTTCCACCC	0.692													G	121187869	A	G	121187869	3	3	244	1	0	0	0	0	1	0	0	0	6137	246	9	3	213	3	FTMT	5	121187869	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08	31202006	121187869	59727391	18	17005											
KCNMB1	3779	broad.mit.edu	37	chr5	169805757	169805757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggttgctcttcaccatgGcgataatgaggaggccaccg	9	9	12	11	2	2	1	1	1	1	0	2	3	2	2	3	4	1	2	3	4	1	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr5:169805757G>A	uc003maq.1	-	3	927	c.527C>T	c.(526-528)gCc>gTc	p.A176V	KCNIP1_uc003map.3_Intron	NM_004137	NP_004128	Q16558	KCMB1_HUMAN	Homo sapiens potassium large conductance calcium-activated channel, subfamily M, beta member 1 (KCNMB1), mRNA.	176					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		CTTCACCATGGCGATAATGAG	0.612													A	169805757	G	A	169805757	3	1	244	1	0	0	0	0	1	0	0	0	8132	1203	42	2	52	2	KCNMB1	5	169805757	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	48617888	169805757	11109503	19	17006											
DSP	1832	broad.mit.edu	37	chr6	7581800	7581800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattccaaaagcaggctttaGaggtattcacaaatacttga	16	11	7	7	0	1	2	1	1	0	1	2	2	2	2	1	2	2	3	1	2	7	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:7581800G>A	uc003mxp.1	+	22	5656	c.5377G>A	c.(5377-5379)Gag>Aag	p.E1793K	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1793	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCAGGCTTTAGAGGTATTCAC	0.383													A	7581800	G	A	7581800	3	1	244	1	0	0	0	0	1	0	0	0	4820	943	33	2	5467	2	DSP	6	7581800	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		7581800	163533267	20	17007											
MAS1L	116511	broad.mit.edu	37	chr6	29455047	29455047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatgtttccagtaagttagGaaaagtgattttactatgtt	13	16	8	4	0	0	1	0	1	0	0	1	2	1	2	1	1	1	4	1	1	6	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:29455047G>A	uc011dlq.2	-	0	633	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	211						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AGTAAGTTAGGAAAAGTGATT	0.433													A	29455047	G	A	29455047	2	1	244	1	0	0	0	0	0	0	0	1	9396	1165	41	2		2	MAS1L	6	29455047	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08	21873247	29455047	141660020	21	17008											
MDN1	23195	broad.mit.edu	37	chr6	90360511	90360511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcttcacataaccgttgtGaaagaggcgctgttaagatc	11	11	10	9	2	2	3	1	1	1	2	3	3	2	3	1	1	1	4	1	1	3	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:90360511G>A	uc003pnn.1	-	95	16087	c.15971C>T	c.(15970-15972)tCa>tTa	p.S5324L		NM_014611	NP_055426	Q9NU22	MDN1_HUMAN	Homo sapiens MDN1, midasin homolog (yeast) (MDN1), mRNA.	5324					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAACCGTTGTGAAAGAGGCGC	0.493													A	90360511	G	A	90360511	3	1	244	1	0	0	0	0	1	0	0	0	9490	1294	45	2	847	2	MDN1	6	90360511	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	60905464	90360511	80754556	22	17009											
TMEM200A	114801	broad.mit.edu	37	chr6	130762228	130762228	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggttttcggagcagttttCgaatggacagctccgtggag	7	11	15	8	4	0	0	0	0	0	0	3	4	1	3	1	4	2	4	1	4	1	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr6:130762228C>T	uc003qcb.3	+	1	3039	c.661C>T	c.(661-663)Cga>Tga	p.R221*	TMEM200A_uc003qca.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfh.3_Nonsense_Mutation_p.R221*|TMEM200A_uc010kfi.3_Nonsense_Mutation_p.R221*|TMEM200A_uc021zfg.1_Nonsense_Mutation_p.R221*	NM_052913	NP_443145	Q86VY9	T200A_HUMAN	Homo sapiens transmembrane protein 200A (TMEM200A), mRNA.	221						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		GAGCAGTTTTCGAATGGACAG	0.478													T	130762228	C	T	130762228	4	4	244	1	0	0	0	0	0	1	0	0	16223	876	31	1	663	1	TMEM200A	6	130762228	Nonsense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	40401717	130762228	40352839	23	17010											
SRCRB4D	136853	broad.mit.edu	37	chr7	76033672	76033672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcttgggggaggaagggagGggcagcactcccatctccca	8	5	17	11	0	1	0	0	0	1	0	3	3	2	3	2	7	1	3	2	7	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:76033672G>A	uc003ufb.3	-	1	433	c.85C>T	c.(85-87)Cct>Tct	p.P29S	ZP3_uc003ufc.4_Intron	NM_080744	NP_542782	Q8WTU2	SRB4D_HUMAN	Homo sapiens scavenger receptor cysteine rich domain containing, group B (4 domains) (SRCRB4D), mRNA.	29						extracellular region|membrane	scavenger receptor activity	p.P29A(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						AGGAAGGGAGGGGCAGCACTC	0.572													A	76033672	G	A	76033672	3	1	244	1	0	0	0	0	1	0	0	0	15233	1232	43	2	1682	2	SRCRB4D	7	76033672	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		76033672	83104991	24	17011											
AKR1B15	441282	broad.mit.edu	37	chr7	134254273	134254273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcttattcactggccacagGgattcaaggtttgagtgact	10	13	10	8	0	3	2	2	2	1	0	3	3	3	3	1	3	0	1	1	3	2	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:134254273G>A	uc011kpr.2	+	4	726	c.427G>A	c.(427-429)Gga>Aga	p.G143R		NM_001080538	NP_001074007	C9JRZ8	AK1BF_HUMAN	Homo sapiens aldo-keto reductase family 1, member B15 (AKR1B15), mRNA.	143							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						CTGGCCACAGGGATTCAAGGT	0.507													A	134254273	G	A	134254273	3	1	244	1	0	0	0	0	1	0	0	0	468	1233	43	2	437	2	AKR1B15	7	134254273	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	58220601	134254273	24884390	25	17012											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138794019	138794019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgcgtccagggccatgCggcccccgtgggcgcacagg	5	3	17	16	5	0	0	0	0	0	0	1	0	1	0	4	4	2	2	4	4	0	0			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:138794019C>T	uc003vun.3	-	0	447	c.59G>A	c.(58-60)cGc>cAc	p.R20H	ZC3HAV1_uc003vup.3_Missense_Mutation_p.R20H	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	20					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CAGGGCCATGCGGCCCCCGTG	0.701													T	138794019	C	T	138794019	3	4	244	1	0	0	0	0	1	0	0	0	17676	768	27	1	2705	1	ZC3HAV1	7	138794019	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	4539746	138794019	20344644	26	17013											
PRSS1	5644	broad.mit.edu	37	chr7	142459677	142459677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgaagtcctggaggggaatGagcagttcatcaatgcagcc	11	8	13	9	1	2	1	2	1	0	0	4	4	3	3	2	3	3	3	2	3	3	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr7:142459677G>A	uc003wak.2	+	2	270	c.253G>A	c.(253-255)Gag>Aag	p.E85K	TRBV5-1_uc011krr.1_Intron|TCRBV2S1_uc003vzp.2_Intron|TCRBV3S1_uc011ksh.2_Intron|TCRBV3S1_uc003vzw.2_Intron|TCRBV3S1_uc011ksi.2_Intron|TCRBV3S1_uc010loj.2_Intron|TCRBV3S1_uc003wag.2_Intron|PRSS1_uc011ksm.1_3'UTR|PRSS1_uc003wam.2_Missense_Mutation_p.E25K	NM_002769	NP_002760	P07477	TRY1_HUMAN	Homo sapiens protease, serine, 1 (trypsin 1) (PRSS1), mRNA.	85	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity	p.E85Q(2)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GGAGGGGAATGAGCAGTTCAT	0.547													A	142459677	G	A	142459677	3	1	244	1	0	0	0	0	1	0	0	0	12699	1291	45	2	263	2	PRSS1	7	142459677	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	3665658	142459677	16678986	27	17014											
POLB	5423	broad.mit.edu	37	chr8	42220141	42220141	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctacagccaaaactgttAcatcaggttgtggagcagtt	12	12	9	8	0	2	0	1	0	1	0	2	1	2	1	1	2	5	4	1	2	4	5			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:42220141A>G	uc003xoz.2	+	10	803	c.633A>G	c.(631-633)ttA>ttG	p.L211L	POLB_uc011lcs.2_Silent_p.L57L	NM_002690	NP_002681	P06746	DPOLB_HUMAN	Homo sapiens polymerase (DNA directed), beta (POLB), mRNA.	211					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	CAAAACTGTTACATCAGGTTG	0.333								DNA polymerases (catalytic subunits)					G	42220141	A	G	42220141	2	3	244	1	0	0	0	0	0	0	0	1	12266	388	14	3		3	POLB	8	42220141	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08		42220141	104143881	28	17015											
FAM83H	286077	broad.mit.edu	37	chr8	144808347	144808347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtccccaagctgtccgagCggaagatggctgaacacttg	9	7	14	11	2	0	2	0	1	0	1	2	4	2	3	3	3	3	2	3	3	3	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr8:144808347C>T	uc003yzk.3	-	4	3353	c.3284G>A	c.(3283-3285)cGc>cAc	p.R1095H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1095					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCTGTCCGAGCGGAAGATGGC	0.697													T	144808347	C	T	144808347	3	4	244	1	0	0	0	0	1	0	0	0	5690	768	27	1	259	1	FAM83H	8	144808347	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	102588206	144808347	1555675	29	17016											
COL5A1	1289	broad.mit.edu	37	chr9	137591840	137591840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggtctccatctacaaCgagcagggtatccagcagat	10	10	9	12	1	2	1	0	0	2	1	5	2	4	1	3	2	4	3	3	2	3	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:137591840C>T	uc004cfe.3	+	2	745	c.363C>T	c.(361-363)aaC>aaT	p.N121N		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													T	137591840	C	T	137591840	2	4	244	1	0	0	0	0	0	0	0	1	3727	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08		137591840	3621591	30	17017											
SOHLH1	402381	broad.mit.edu	37	chr9	138586241	138586241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccactcacccggccacGagctgggaccagcagtcagc	8	3	12	18	2	2	0	2	0	0	0	2	2	2	1	5	3	3	2	5	3	0	0			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr9:138586241G>A	uc010nbe.3	-	6	999	c.938C>T	c.(937-939)tCg>tTg	p.S313L	SOHLH1_uc004cgl.3_Missense_Mutation_p.S313L	NM_001101677	NP_001095147	Q5JUK2	SOLH1_HUMAN	Homo sapiens spermatogenesis and oogenesis specific basic helix-loop-helix 1 (SOHLH1), transcript variant 1, mRNA.	313					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ACCCGGCCACGAGCTGGGACC	0.637													A	138586241	G	A	138586241	3	1	244	1	0	0	0	0	1	0	0	0	15017	1059	37	1	274	1	SOHLH1	9	138586241	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	994401	138586241	2627190	31	17018											
PTEN	5728	broad.mit.edu	37	chr10	89692800	89692800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttgaagaccataaccCaccacagctagaacttatca	14	10	4	13	0	1	3	1	1	0	2	2	3	2	3	4	0	3	1	4	0	5	5			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr10:89692800C>T	uc001kfb.3	+	4	1316	c.284C>T	c.(283-285)cCa>cTa	p.P95L	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	95	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P95L(6)|p.?(5)|p.R55fs*1(5)|p.P95S(4)|p.Y27fs*1(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.H93fs*5(1)|p.N94Y(1)|p.F90_P95>L(1)|p.F56fs*2(1)|p.N94I(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACCATAACCCACCACAGCTA	0.348		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692800	C	T	89692800	3	4	244	1	0	0	0	0	1	0	0	0	12823	594	21	2	302	2	PTEN	10	89692800	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		89692800	45841947	32	17019											
PHRF1	57661	broad.mit.edu	37	chr11	608268	608268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgcggaggccatcccccCcagagccctgggatgaggag	7	4	16	14	1	0	2	0	1	0	1	1	5	1	5	5	5	2	1	5	5	0	0			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:608268C>T	uc001lqe.3	+	13	2943	c.2812C>T	c.(2812-2814)Cca>Tca	p.P938S	PHRF1_uc010qwc.2_Missense_Mutation_p.P937S|PHRF1_uc010qwd.2_Missense_Mutation_p.P936S|PHRF1_uc010qwe.2_Missense_Mutation_p.P934S|PHRF1_uc009ybz.1_Missense_Mutation_p.P728S|PHRF1_uc009yca.2_Non-coding_Transcript	NM_020901	NP_065952	Q9P1Y6	PHRF1_HUMAN	Homo sapiens PHD and ring finger domains 1 (PHRF1), mRNA.	938							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCATCCCCCCCAGAGCCCTG	0.697													T	608268	C	T	608268	3	4	244	1	0	0	0	0	1	0	0	0	11938	623	22	2	2859	2	PHRF1	11	608268	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		608268	134398248	33	17020											
OR51D1	390038	broad.mit.edu	37	chr11	4661911	4661911	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctacttgctgctaccaccTgtagtcaacccccttgtcta	8	12	5	16	0	2	0	1	0	1	0	2	0	2	0	5	0	5	3	5	0	5	6			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4661911T>A	uc010qyk.2	+	0	967	c.891T>A	c.(889-891)ccT>ccA	p.P297P		NM_001004751	NP_001004751	Q8NGF3	O51D1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily D, member 1 (OR51D1), mRNA.	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTACCACCTGTAGTCAACC	0.522													A	4661911	T	A	4661911	2	1	244	1	0	0	0	0	0	0	0	1	11169	1567	55	5		5	OR51D1	11	4661911	Silent	SNP	T	TCGA-41-2573-01A-01D-1495-08	4053643	4661911	130344605	34	17021											
OR51T1	401665	broad.mit.edu	37	chr11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagaccaagacaatccGccaggctatgttccagctgc	11	8	9	13	1	0	3	0	1	0	2	2	3	2	3	4	1	2	3	4	1	4	3	rs151076376	byFrequency	TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:4904034G>A	uc010qyp.2	+	0	986	c.986G>A	c.(985-987)cGc>cAc	p.R329H		NM_001004759	NP_001004759	Q8NGJ9	O51T1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily T, member 1 (OR51T1), mRNA.	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R329L(2)|p.R302L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483													A	4904034	G	A	4904034	3	1	244	1	0	0	0	0	1	0	0	0	11182	1087	38	1	988	1	OR51T1	11	4904034	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	242123	4904034	130102482	35	17022											
SLC17A6	57084	broad.mit.edu	37	chr11	22399231	22399231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaagaaagaggaatttgTacaaggagaagtacaagact	20	6	12	3	0	0	4	0	0	0	4	0	7	0	6	0	3	2	2	0	3	9	3			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:22399231T>C	uc001mqk.3	+	11	2107	c.1694T>C	c.(1693-1695)gTa>gCa	p.V565A		NM_020346	NP_065079	Q9P2U8	VGLU2_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 6 (SLC17A6), mRNA.	565					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						GAGGAATTTGTACAAGGAGAA	0.353													C	22399231	T	C	22399231	3	2	244	1	0	0	0	0	1	0	0	0	14515	1638	57	3	1740	3	SLC17A6	11	22399231	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	17495197	22399231	112607285	36	17023											
OR4C15	81309	broad.mit.edu	37	chr11	55322570	55322570	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtttatctgcatcataaActtctccttgttgcttgtct	6	19	7	9	0	4	0	1	0	3	0	5	0	4	0	1	1	3	4	1	1	3	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr11:55322570A>T	uc010rig.2	+	0	788	c.788A>T	c.(787-789)aAc>aTc	p.N263I		NM_001001920	NP_001001920	Q8NGM1	OR4CF_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 15 (OR4C15), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGCATCATAAACTTCTCCTTG	0.478										HNSCC(20;0.049)			T	55322570	A	T	55322570	3	4	244	1	0	0	0	0	1	0	0	0	11124	43	2	5	790	5	OR4C15	11	55322570	Missense_Mutation	SNP	A	TCGA-41-2573-01A-01D-1495-08	32923339	55322570	79683946	37	17024											
VWF	7450	broad.mit.edu	37	chr12	6138532	6138532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtctgcttcaggaccacGgagatgctcaggtggcggtc	7	10	14	10	2	3	1	2	0	1	1	4	3	3	2	1	5	2	2	1	5	1	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:6138532G>A	uc001qnn.1	-	21	3193	c.2943C>T	c.(2941-2943)tcC>tcT	p.S981S	VWF_uc010set.1_Intron	NM_000552	NP_000543	P04275	VWF_HUMAN	Homo sapiens von Willebrand factor (VWF), mRNA.	981	VWFD 3.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCAGGACCACGGAGATGCTCA	0.552													A	6138532	G	A	6138532	2	1	244	1	0	0	0	0	0	0	0	1	17348	1103	39	1		1	VWF	12	6138532	Silent	SNP	G	TCGA-41-2573-01A-01D-1495-08		6138532	127713363	38	17025											
A2M	2	broad.mit.edu	37	chr12	9225468	9225468	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagccaccactgtgtcCtgttagagacagatgagtga	11	9	13	8	0	0	5	0	2	0	3	1	7	1	5	3	1	1	1	3	1	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:9225468C>A	uc001qvk.1	-	30	3870	c.3757_splice	c.e30-1	p.D1253_splice	A2M_uc009zgk.1_Splice_Site_p.D1103_splice	NM_000014	NP_000005	P01023	A2MG_HUMAN	Homo sapiens alpha-2-macroglobulin (A2M), mRNA.	1253					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCACTGTGTCCTGTTAGAGAC	0.478													A	9225468	C	A	9225468	5	1	244	1	0	0	0	0	0	0	1	0	4	695	24	4	696	4	A2M	12	9225468	Splice_Site	SNP	C	TCGA-41-2573-01A-01D-1495-08	3086936	9225468	124626427	39	17026											
YARS2	51067	broad.mit.edu	37	chr12	32908585	32908585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcgaagccacagtaaatgGtttggggaaaactcgccgtg	11	8	14	8	3	0	0	0	0	0	0	2	2	0	1	2	4	2	2	2	4	5	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:32908585G>C	uc001rli.3	-	0	303	c.224C>G	c.(223-225)aCc>aGc	p.T75S		NM_001040436	NP_001035526	Q9Y2Z4	SYYM_HUMAN	Homo sapiens tyrosyl-tRNA synthetase 2, mitochondrial (YARS2), nuclear gene encoding mitochondrial protein, mRNA.	75					tyrosyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|RNA binding|tyrosine-tRNA ligase activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	16	Lung NSC(5;2.43e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)				L-Tyrosine(DB00135)	ACAGTAAATGGTTTGGGGAAA	0.577											OREG0021729	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	32908585	G	C	32908585	3	2	244	1	0	0	0	0	1	0	0	0	17570	1261	44	4	1229	4	YARS2	12	32908585	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08	23683117	32908585	100943310	40	17027											
CPNE8	144402	broad.mit.edu	37	chr12	39079420	39079420	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttttgaggattcccattCtgtagaaatttataggcaaa	12	14	10	5	0	1	2	0	1	1	1	2	3	2	3	1	3	0	3	1	3	5	8			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:39079420C>A	uc001rls.1	-	16	1228	c.1144_splice	c.e16-1	p.N382_splice	CPNE8_uc001rlr.1_Splice_Site_p.N41_splice	NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	382	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				GATTCCCATTCTGTAGAAATT	0.383													A	39079420	C	A	39079420	5	1	244	1	0	0	0	0	0	0	1	0	3849	927	32	4	571	4	CPNE8	12	39079420	Splice_Site	SNP	C	TCGA-41-2573-01A-01D-1495-08	6170835	39079420	94772475	41	17028											
ALX1	8092	broad.mit.edu	37	chr12	85695101	85695101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttcagccacgtgcccCtcaacaattttttcactgac	10	11	5	15	1	3	1	3	1	0	0	3	1	3	1	4	0	3	1	4	0	2	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:85695101C>T	uc001tae.4	+	3	833	c.829C>T	c.(829-831)Ctc>Ttc	p.L277F		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	277					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.P276P(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CCACGTGCCCCTCAACAATTT	0.473													T	85695101	C	T	85695101	3	4	244	1	0	0	0	0	1	0	0	0	556	681	24	2	843	2	ALX1	12	85695101	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	46615681	85695101	48156794	42	17029											
ZNF10	7556	broad.mit.edu	37	chr12	133732883	133732883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagacaaactgtacacaTgtaatcagtgtgggaaatct	15	9	10	7	0	2	1	1	0	1	1	2	3	2	2	0	2	2	2	0	2	4	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr12:133732883T>C	uc009zzb.3	+	4	1498	c.1051T>C	c.(1051-1053)Tgt>Cgt	p.C351R	ZNF268_uc010tbv.1_Intron|ZNF10_uc001ulq.3_Missense_Mutation_p.C351R	NM_015394	NP_056209	P21506	ZNF10_HUMAN	Homo sapiens zinc finger protein 10 (ZNF10), mRNA.	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(1)|skin(5)|urinary_tract(1)	26	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.00948)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACTGTACACATGTAATCAGTG	0.413													C	133732883	T	C	133732883	3	2	244	1	0	0	0	0	1	0	0	0	17813	1464	51	3	1065	3	ZNF10	12	133732883	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08	48037782	133732883	119012	43	17030											
RYR3	6263	broad.mit.edu	37	chr15	33822868	33822868	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcactctttcagcggaatgGtaagcagctctggtgcccac	8	9	12	12	1	3	0	1	0	2	0	3	1	3	1	1	4	4	4	1	4	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr15:33822868G>A	uc001zhi.3	+	4	424	c.354_splice	c.e4+1	p.M118_splice	RYR3_uc010bar.3_Splice_Site_p.M118_splice	NM_001036	NP_001027	Q15413	RYR3_HUMAN	Homo sapiens ryanodine receptor 3 (RYR3), transcript variant 1, mRNA.	118	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CAGCGGAATGGTAAGCAGCTC	0.498													A	33822868	G	A	33822868	5	1	244	1	0	0	0	0	0	0	1	0	13861	1275	44	2	369	2	RYR3	15	33822868	Splice_Site	SNP	G	TCGA-41-2573-01A-01D-1495-08		33822868	68708524	44	17031											
MGRN1	23295	broad.mit.edu	37	chr16	4731741	4731741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcctggacagcagccGccagaagggcaggccgcaga	11	2	13	15	2	0	2	0	0	0	2	1	3	1	3	5	3	2	3	5	3	1	0			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:4731741G>A	uc002cxa.3	+	12	1459	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	MGRN1_uc002cwz.3_Missense_Mutation_p.R441H|MGRN1_uc010uxo.2_Missense_Mutation_p.R419H|MGRN1_uc010uxp.2_Missense_Mutation_p.R419H|MGRN1_uc010btw.3_Missense_Mutation_p.R420H|MGRN1_uc010uxq.2_Non-coding_Transcript	NM_015246	NP_056061	O60291	MGRN1_HUMAN	Homo sapiens mahogunin, ring finger 1 (MGRN1), transcript variant 1, mRNA.	441					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						GACAGCAGCCGCCAGAAGGGC	0.662													A	4731741	G	A	4731741	3	1	244	1	0	0	0	0	1	0	0	0	9634	1087	38	1	1375	1	MGRN1	16	4731741	Missense_Mutation	SNP	G	TCGA-41-2573-01A-01D-1495-08		4731741	85623012	45	17032											
ATP6V0D1	9114	broad.mit.edu	37	chr16	67472549	67472549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacgaaggcatagaagacaCcaaagtggaactggttcagg	15	6	12	8	1	2	2	2	0	0	2	2	4	2	3	1	4	1	2	1	4	5	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:67472549C>T	uc010vjo.1	-	8	1161	c.1061G>A	c.(1060-1062)gGt>gAt	p.G354D	ATP6V0D1_uc002ete.1_Missense_Mutation_p.G313D|ATP6V0D1_uc010vjn.1_Missense_Mutation_p.G236D	NM_004691	NP_004682	P61421	VA0D1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d1 (ATP6V0D1), mRNA.	313					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex				large_intestine(3)|lung(3)|urinary_tract(2)	8		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0439)|Epithelial(162;0.101)		ATAGAAGACACCAAAGTGGAA	0.547													T	67472549	C	T	67472549	3	4	244	1	0	0	0	0	1	0	0	0	1178	507	18	2	121	2	ATP6V0D1	16	67472549	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	62740808	67472549	22882204	46	17033											
FA2H	79152	broad.mit.edu	37	chr16	74750318	74750318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaggagcccttgtgcggCgagccaaagtgcaggtagta	10	7	16	8	2	0	0	0	0	0	0	0	2	0	1	2	4	4	4	2	4	4	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr16:74750318C>T	uc002fde.2	-	5	1042	c.966G>A	c.(964-966)tcG>tcA	p.S322S	FA2H_uc002fdd.2_Silent_p.S95S|FA2H_uc010vmy.2_Non-coding_Transcript	NM_024306	NP_077282	Q7L5A8	FA2H_HUMAN	Homo sapiens fatty acid 2-hydroxylase (FA2H), mRNA.	322					cell death|electron transport chain|fatty acid biosynthetic process|sphingolipid metabolic process|transport	endoplasmic reticulum membrane|integral to membrane|microsome	heme binding|oxidoreductase activity			endometrium(2)|large_intestine(4)|lung(3)|skin(1)	10						CCTTGTGCGGCGAGCCAAAGT	0.602													T	74750318	C	T	74750318	2	4	244	1	0	0	0	0	0	0	0	1	5397	755	27	1		1	FA2H	16	74750318	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	7277769	74750318	15604435	47	17034											
USP6	9098	broad.mit.edu	37	chr17	5042870	5042870	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggatatagggggccctTggttcccccattatgatttt	7	14	10	10	0	0	1	0	1	0	0	1	2	1	2	4	4	0	1	4	4	3	7			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:5042870T>A	uc002gau.1	+	21	3629	c.1399T>A	c.(1399-1401)Tgg>Agg	p.W467R	USP6_uc002gav.1_Missense_Mutation_p.W467R|USP6_uc010ckz.1_Missense_Mutation_p.W150R|DQ573130_uc002gbd.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	467					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGGGGGCCCTTGGTTCCCCCA	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5042870	T	A	5042870	3	1	244	1	0	0	0	0	1	0	0	0	17188	1812	63	5	1449	5	USP6	17	5042870	Missense_Mutation	SNP	T	TCGA-41-2573-01A-01D-1495-08		5042870	76152340	48	17035											
MYH1	4619	broad.mit.edu	37	chr17	10412802	10412802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaaaagcaagccaacCttctcgatgagctcgatgca	13	8	8	12	2	2	1	0	1	2	0	4	3	2	1	2	0	6	4	2	0	4	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:10412802C>T	uc002gmo.3	-	15	1681	c.1587_splice	c.e15+1	p.K529_splice	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	529	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAAGCCAACCTTCTCGATGA	0.433													T	10412802	C	T	10412802	2	4	244	1	0	0	0	0	0	0	0	1	10105	695	24	2		2	MYH1	17	10412802	Silent	SNP	C	TCGA-41-2573-01A-01D-1495-08	5369932	10412802	70782408	49	17036											
FKBP10	60681	broad.mit.edu	37	chr17	39969482	39969482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagatgggggattttgtgCgctaccactacaacggcact	9	10	12	10	2	0	1	0	0	0	1	0	2	0	2	1	3	5	3	1	3	3	4			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:39969482C>T	uc002hxv.2	+	0	521	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	LEPREL4_uc002hxt.3_5'Flank|LEPREL4_uc002hxu.3_5'Flank	NM_021939	NP_068758	Q96AY3	FKB10_HUMAN	Homo sapiens FK506 binding protein 10, 65 kDa (FKBP10), mRNA.	66	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		GGATTTTGTGCGCTACCACTA	0.627													T	39969482	C	T	39969482	3	4	244	1	0	0	0	0	1	0	0	0	5951	768	27	1	198	1	FKBP10	17	39969482	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	29556680	39969482	41225728	50	17037											
PPM1D	8493	broad.mit.edu	37	chr17	58725371	58725371	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatattggggagtgatggActttggaatatgattccacc	11	14	11	5	0	0	2	0	2	0	0	1	5	1	5	2	4	0	0	2	4	4	6			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:58725371A>T	uc002iyt.2	+	3	1177	c.945A>T	c.(943-945)ggA>ggT	p.G315G	PPM1D_uc010ddm.2_Non-coding_Transcript	NM_003620	NP_003611	O15297	PPM1D_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1D (PPM1D), mRNA.	315	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			GGAGTGATGGACTTTGGAATA	0.413													T	58725371	A	T	58725371	2	4	244	1	0	0	0	0	0	0	0	1	12419	262	10	5		5	PPM1D	17	58725371	Silent	SNP	A	TCGA-41-2573-01A-01D-1495-08	18755889	58725371	22469839	51	17038											
DNAH17	8632	broad.mit.edu	37	chr17	76420172	76420172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgaagatgacaggcatggCcggggtcagctctttcagcc	9	8	14	10	1	3	3	2	2	1	1	3	4	3	3	2	4	2	2	2	4	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr17:76420172C>T	uc010dhp.2	-	80	13329	c.13204G>A	c.(13204-13206)Gcc>Acc	p.A4402T	PGS1_uc002jvm.3_3'UTR|PGS1_uc010wtt.2_Non-coding_Transcript|PGS1_uc010dho.3_Non-coding_Transcript|PGS1_uc002jvn.3_3'UTR|PGS1_uc002jvo.3_Non-coding_Transcript|DNAH17_uc002jvq.3_Missense_Mutation_p.A687T|DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.									p.A4397T(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGGCATGGCCGGGGTCAGC	0.602													T	76420172	C	T	76420172	3	4	244	1	0	0	0	0	1	0	0	0	4640	739	26	2	188	2	DNAH17	17	76420172	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	17694801	76420172	4775038	52	17039											
GDF5	8200	broad.mit.edu	37	chr20	34022173	34022173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggtcccgtttcttggtgCggccaaacaccaggaacagg	10	7	12	12	2	1	0	0	0	1	0	2	1	2	1	3	5	3	1	3	5	2	2			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:34022173C>T	uc010gfc.1	-	1	1281	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	GDF5OS_uc002xcj.3_Missense_Mutation_p.A195V|GDF5_uc002xck.1_Missense_Mutation_p.R347H	NM_000557	NP_000548	P43026	GDF5_HUMAN	Homo sapiens growth differentiation factor 5 (GDF5), mRNA.	347					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTTCTTGGTGCGGCCAAACAC	0.632													T	34022173	C	T	34022173	3	4	244	1	0	0	0	0	1	0	0	0	6372	768	27	1	469	1	GDF5	20	34022173	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08		34022173	29003347	53	17040											
LAMA5	3911	broad.mit.edu	37	chr20	60900398	60900398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtccccccggtagctggCggggcacaggcacagctcca	7	5	14	15	2	0	1	0	1	0	0	2	1	2	1	4	5	2	5	4	5	1	1			TCGA-41-2573-01A-01D-1495-08	TCGA-41-2573-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fadc9e2a-d97d-4e86-a814-4f32f8cfd7a5	ad85c116-07e1-41be-a8e7-48502fb1e629	g.chr20:60900398C>T	uc002ycq.3	-	40	5570	c.5503G>A	c.(5503-5505)Gcc>Acc	p.A1835T	LAMA5_uc021wfw.1_Missense_Mutation_p.A1835T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	1835	Laminin EGF-like 16; second part.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGGTAGCTGGCGGGGCACAGG	0.672													T	60900398	C	T	60900398	3	4	244	1	0	0	0	0	1	0	0	0	8668	768	27	1	5744	1	LAMA5	20	60900398	Missense_Mutation	SNP	C	TCGA-41-2573-01A-01D-1495-08	26878225	60900398	2125122	54	17041											
LRRC47	57470	broad.mit.edu	37	chr1	3699235	3699235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctacctttgtcttcTcactgttggttattggtggg	4	16	10	11	0	2	0	1	0	2	0	3	0	2	0	3	3	1	2	3	3	2	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:3699235T>C	uc001akx.1	-	4	1431	c.1403A>G	c.(1402-1404)gAg>gGg	p.E468G		NM_020710	NP_065761	Q8N1G4	LRC47_HUMAN	Homo sapiens leucine rich repeat containing 47 (LRRC47), mRNA.	468					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CTTTGTCTTCTCACTGTTGGT	0.483													C	3699235	T	C	3699235	3	2	245	1	0	0	0	0	1	0	0	0	9074	1551	54	3	360	3	LRRC47	1	3699235	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08		3699235	245551386	1	17042											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837263	12837263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgtcagctaaaagagctaGacctgaggggcatcacactg	12	7	11	11	1	2	3	2	1	0	2	3	3	3	3	2	2	2	3	2	2	3	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:12837263G>C	uc001aui.3	+	2	1000	c.973G>C	c.(973-975)Gac>Cac	p.D325H		NM_001080830	NP_001074299	O95522	PRA12_HUMAN	Homo sapiens PRAME family member 12 (PRAMEF12), mRNA.	325										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAAGAGCTAGACCTGAGGGG	0.577													C	12837263	G	C	12837263	3	2	245	1	0	0	0	0	1	0	0	0	12510	942	33	4	983	4	PRAMEF12	1	12837263	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	9138028	12837263	236413358	2	17043											
FHL3	2275	broad.mit.edu	37	chr1	38464646	38464646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcccctgaacacatacCaggcatgacagtctccccac	12	6	7	16	0	1	3	0	3	1	0	2	3	1	3	5	1	3	1	5	1	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:38464646C>T	uc001cck.3	-	3	510	c.331_splice	c.e3+1	p.G111_splice	FHL3_uc001ccm.3_Splice_Site_p.G3_splice|FHL3_uc009vvl.2_Splice_Site_p.G111_splice	NM_004468	NP_004459	Q13643	FHL3_HUMAN	Homo sapiens four and a half LIM domains 3 (FHL3), transcript variant 1, mRNA.	111	LIM zinc-binding 2.				muscle organ development		zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GAACACATACCAGGCATGACA	0.527													T	38464646	C	T	38464646	3	4	245	1	0	0	0	0	1	0	0	0	5929	608	21	2	527	2	FHL3	1	38464646	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	25627383	38464646	210785975	3	17044											
CDCP2	200008	broad.mit.edu	37	chr1	54605733	54605733	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggagctggggtactgtggGctggagaagttgccccgcat	7	9	17	8	1	0	1	0	0	0	1	0	3	0	2	2	5	3	5	2	5	3	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:54605733G>A	uc001cwv.1	-	3	1658	c.810C>T	c.(808-810)agC>agT	p.S270S		NM_201546	NP_963840	Q5VXM1	CDCP2_HUMAN	Homo sapiens CUB domain containing protein 2 (CDCP2), mRNA.	270	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GGTACTGTGGGCTGGAGAAGT	0.617													A	54605733	G	A	54605733	2	1	245	1	0	0	0	0	0	0	0	1	3124	1194	42	2		2	CDCP2	1	54605733	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	16141087	54605733	194644888	4	17045											
RPF1	80135	broad.mit.edu	37	chr1	84962001	84962001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccttaaaattaaggtctcTtcagaaaggaacctttgatt	14	14	6	7	0	2	2	1	1	1	1	3	3	2	3	2	2	2	0	2	2	6	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:84962001T>C	uc001djv.4	+	7	1001	c.956T>C	c.(955-957)cTt>cCt	p.L319P		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	319	Brix.|RNA-binding (By similarity).				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						TTAAGGTCTCTTCAGAAAGGA	0.323													C	84962001	T	C	84962001	3	2	245	1	0	0	0	0	1	0	0	0	13637	1609	56	3	986	3	RPF1	1	84962001	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	30356268	84962001	164288620	5	17046											
FLG	2312	broad.mit.edu	37	chr1	152282534	152282534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaagccgactcagaccGcctctcagagtcttctgagt	8	10	10	13	2	5	3	2	1	4	2	6	5	5	4	3	1	1	0	3	1	1	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:152282534G>A	uc001ezu.1	-	2	4864	c.4828C>T	c.(4828-4830)Cgg>Tgg	p.R1610W		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1610	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GACTCAGACCGCCTCTCAGAG	0.572									Ichthyosis				A	152282534	G	A	152282534	3	1	245	1	0	0	0	0	1	0	0	0	5971	1086	38	1	7361	1	FLG	1	152282534	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	67320533	152282534	96968087	6	17047											
NCSTN	23385	broad.mit.edu	37	chr1	160318815	160318815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtggagacacaggggttAtccacgtagtagagaaagag	14	8	14	5	1	0	3	0	0	0	3	1	5	1	3	1	3	0	3	1	3	5	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:160318815A>G	uc001fvx.3	+	2	341	c.217A>G	c.(217-219)Atc>Gtc	p.I73V	NCSTN_uc009wtk.1_Non-coding_Transcript|NCSTN_uc001fvy.3_Missense_Mutation_p.I53V|NCSTN_uc010pjf.2_Missense_Mutation_p.I73V|NCSTN_uc010pjg.2_5'Flank	NM_015331	NP_056146	Q92542	NICA_HUMAN	Homo sapiens nicastrin (NCSTN), mRNA.	73					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	p.I73N(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CACAGGGGTTATCCACGTAGT	0.468													G	160318815	A	G	160318815	3	3	245	1	0	0	0	0	1	0	0	0	10317	449	16	3	227	3	NCSTN	1	160318815	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	8036281	160318815	88931806	7	17048											
RYR2	6262	broad.mit.edu	37	chr1	237780610	237780610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctactgcttcagtacctcTgtgactgccaggtccggcac	6	10	10	15	1	2	1	1	1	1	0	3	1	3	1	4	2	4	3	4	2	2	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr1:237780610T>C	uc001hyl.1	+	37	5860	c.5740T>C	c.(5740-5742)Tgt>Cgt	p.C1914R		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	1914	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGTACCTCTGTGACTGCCA	0.398													C	237780610	T	C	237780610	3	2	245	1	0	0	0	0	1	0	0	0	13860	1580	55	3	5890	3	RYR2	1	237780610	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	77461795	237780610	11470011	8	17049											
TMEM214	54867	broad.mit.edu	37	chr2	27263616	27263616	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatgaagacacagctcAgtgaggctgtccactggacc	11	7	11	12	0	1	3	1	2	0	1	2	4	2	4	2	2	2	3	2	2	1	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:27263616A>T	uc002ria.4	+	16	2091	c.1981A>T	c.(1981-1983)Agt>Tgt	p.S661C	TMEM214_uc002rib.4_Missense_Mutation_p.S616C	NM_017727	NP_060197	Q6NUQ4	TM214_HUMAN	Homo sapiens transmembrane protein 214 (TMEM214), transcript variant 1, mRNA.	661						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACACAGCTCAGTGAGGCTGT	0.532													T	27263616	A	T	27263616	3	4	245	1	0	0	0	0	1	0	0	0	16237	188	7	5	2047	5	TMEM214	2	27263616	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		27263616	215935757	9	17050											
THSD7B	80731	broad.mit.edu	37	chr2	138421119	138421119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatacatgatatttttaaagGatggtctcttcaaccacttg	13	15	6	7	0	2	1	1	1	1	0	3	2	2	2	1	2	2	0	1	2	6	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:138421119G>T	uc002tva.1	+	24	4535	c.4535G>T	c.(4534-4536)gGa>gTa	p.G1512V	THSD7B_uc010zbj.1_Non-coding_Transcript	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		ATTTTTAAAGGATGGTCTCTT	0.368													T	138421119	G	T	138421119	3	4	245	1	0	0	0	0	1	0	0	0	15980	1174	41	4	4635	4	THSD7B	2	138421119	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	111157503	138421119	104778254	10	17051											
SCN3A	6328	broad.mit.edu	37	chr2	165996030	165996030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctatgctcacggctcttTgccttccagaggaatcctcc	6	12	9	14	1	2	1	1	0	1	1	5	2	5	2	4	3	2	3	4	3	2	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:165996030T>C	uc002ucx.3	-	13	2600	c.2108A>G	c.(2107-2109)cAa>cGa	p.Q703R	SCN3A_uc002ucy.3_Missense_Mutation_p.Q654R|SCN3A_uc002ucz.3_Missense_Mutation_p.Q654R|SCN3A_uc002uda.1_Missense_Mutation_p.Q523R|SCN3A_uc002udb.1_Missense_Mutation_p.Q523R	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	703						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CACGGCTCTTTGCCTTCCAGA	0.463													C	165996030	T	C	165996030	3	2	245	1	0	0	0	0	1	0	0	0	14011	1812	63	3	3954	3	SCN3A	2	165996030	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	27574911	165996030	77203343	11	17052											
TTN	7273	broad.mit.edu	37	chr2	179610349	179610349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcaaagctctcagccattCctgatttgtttgtagctaca	9	14	7	11	0	1	1	1	1	1	0	3	1	2	1	2	0	5	5	2	0	3	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:179610349C>A	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.G5593V	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAGCCATTCCTGATTTGTT	0.378													A	179610349	C	A	179610349	3	1	245	1	0	0	0	0	1	0	0	0	16837	855	30	4	93519	4	TTN	2	179610349	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	13614319	179610349	63589024	12	17053											
DNAJC10	54431	broad.mit.edu	37	chr2	183597246	183597246	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtttgacttcacagacaCgactcaggcttagtggcatg	10	12	10	9	1	2	2	2	1	0	1	2	3	2	2	0	2	0	3	0	2	1	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:183597246C>T	uc002uow.1	+	9	1241	c.826C>T	c.(826-828)Cga>Tga	p.R276*	DNAJC10_uc002uox.1_Non-coding_Transcript|DNAJC10_uc002uoy.1_Non-coding_Transcript|DNAJC10_uc002uoz.1_Nonsense_Mutation_p.R276*|DNAJC10_uc010fro.1_Intron	NM_018981	NP_061854	Q8IXB1	DJC10_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 10 (DNAJC10), mRNA.	276					apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTCACAGACACGACTCAGGCT	0.348													T	183597246	C	T	183597246	4	4	245	1	0	0	0	0	0	1	0	0	4668	528	19	1	856	1	DNAJC10	2	183597246	Nonsense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	3986897	183597246	59602127	13	17054											
PLCL1	5334	broad.mit.edu	37	chr2	198950332	198950332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttatgttctaaggccGtctataatgcgagatgaagt	10	14	12	5	2	2	2	0	1	2	1	2	3	2	2	1	2	1	2	1	2	5	5	rs147854527	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:198950332G>A	uc010fsp.3	+	1	2489	c.2091G>A	c.(2089-2091)ccG>ccA	p.P697P	PLCL1_uc002uuv.4_Silent_p.P618P	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	697	PI-PLC Y-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	TTCTAAGGCCGTCTATAATGC	0.458													A	198950332	G	A	198950332	2	1	245	1	0	0	0	0	0	0	0	1	12116	1132	40	1		1	PLCL1	2	198950332	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	15353086	198950332	44249041	14	17055											
ZDBF2	57683	broad.mit.edu	37	chr2	207174816	207174816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttagggaaggtcgttTccactgttactttgatgatg	8	15	13	5	1	0	2	0	2	0	0	2	4	1	4	1	3	1	3	1	3	3	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr2:207174816T>G	uc002vbp.2	+	4	5814	c.5564T>G	c.(5563-5565)tTc>tGc	p.F1855C		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1855							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GAAGGTCGTTTCCACTGTTAC	0.418													G	207174816	T	G	207174816	3	3	245	1	0	0	0	0	1	0	0	0	17700	1783	62	5	5574	5	ZDBF2	2	207174816	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	8224484	207174816	36024557	15	17056											
FBLN2	2199	broad.mit.edu	37	chr3	13679178	13679178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcctgcgcatatcttccGcattggccccgcgccagcct	4	9	11	17	4	1	0	0	0	1	0	2	0	2	0	6	2	3	2	6	2	1	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:13679178G>A	uc011avc.2	+	17	3837	c.3455G>A	c.(3454-3456)cGc>cAc	p.R1152H	FBLN2_uc011auz.2_Missense_Mutation_p.R1131H|FBLN2_uc011avb.2_Missense_Mutation_p.R1105H|FBLN2_uc011ava.2_Missense_Mutation_p.R1152H	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	1105	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CATATCTTCCGCATTGGCCCC	0.617													A	13679178	G	A	13679178	3	1	245	1	0	0	0	0	1	0	0	0	5748	1087	38	1	2211	1	FBLN2	3	13679178	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		13679178	184343252	16	17057											
CASR	846	broad.mit.edu	37	chr3	121981197	121981197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagatatatatacctgcttaCctgggagagggctcttcacc	11	11	9	10	0	2	2	1	0	1	2	2	3	2	2	3	2	3	2	3	2	6	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:121981197C>A	uc003eew.4	+	3	1753	c.1315C>A	c.(1315-1317)Cct>Act	p.P439T	CASR_uc003eev.4_Missense_Mutation_p.P439T	NM_001178065	NP_001171536	P41180	CASR_HUMAN	Homo sapiens calcium-sensing receptor (CASR), transcript variant 1, mRNA.	439					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	TACCTGCTTACCTGGGAGAGG	0.453													A	121981197	C	A	121981197	3	1	245	1	0	0	0	0	1	0	0	0	2708	507	18	4	1325	4	CASR	3	121981197	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	108302019	121981197	76041233	17	17058											
FETUB	26998	broad.mit.edu	37	chr3	186362631	186362631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgctggaggctgccacCgagtctcttgcgaaatacaa	11	8	11	11	2	1	0	0	0	1	0	2	3	1	1	2	2	4	2	2	2	4	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr3:186362631C>T	uc010hyq.3	+	4	777	c.516C>T	c.(514-516)acC>acT	p.T172T	FETUB_uc011brz.2_Silent_p.T24T|FETUB_uc003fqn.3_Silent_p.T172T|FETUB_uc010hyr.3_Silent_p.T135T|FETUB_uc010hys.3_Silent_p.T24T|FETUB_uc003fqp.4_Silent_p.T107T	NM_014375	NP_055190	Q9UGM5	FETUB_HUMAN	Homo sapiens fetuin B (FETUB), mRNA.	172	Cystatin fetuin-B-type 2.					extracellular space	cysteine-type endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)	20	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0479)		AGGCTGCCACCGAGTCTCTTG	0.473													T	186362631	C	T	186362631	2	4	245	1	0	0	0	0	0	0	0	1	5870	639	23	1		1	FETUB	3	186362631	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	64381434	186362631	11659799	18	17059											
RAB28	9364	broad.mit.edu	37	chr4	13383174	13383174	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accattttcctggcaaaaccGtaagtgtttttcaggtttta	10	16	7	8	1	1	0	1	0	0	0	2	0	2	0	3	2	1	4	3	2	4	7	rs139395840	byFrequency	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:13383174G>C	uc003gmu.2	-	4	651	c.436C>G	c.(436-438)Cgg>Ggg	p.R146G	RAB28_uc003gmv.2_Non-coding_Transcript|RAB28_uc003gmt.2_Missense_Mutation_p.R146G|RAB28_uc011bwz.1_Missense_Mutation_p.R146G	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	146					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity	p.R146W(2)		endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						TGGCAAAACCGTAAGTGTTTT	0.328													C	13383174	G	C	13383174	3	2	245	1	0	0	0	0	1	0	0	0	13004	1144	40	4	381	4	RAB28	4	13383174	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		13383174	177771102	19	17060											
NCAPG	64151	broad.mit.edu	37	chr4	17819684	17819684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattttgccagagcCtgtagtatatgcagactatt	12	12	10	7	0	0	4	0	0	0	4	0	4	0	4	2	0	4	4	2	0	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:17819684C>T	uc003gpp.3	+	6	1267	c.1091C>T	c.(1090-1092)cCt>cTt	p.P364L	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	364					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TTGCCAGAGCCTGTAGTATAT	0.368													T	17819684	C	T	17819684	3	4	245	1	0	0	0	0	1	0	0	0	10283	681	24	2	1117	2	NCAPG	4	17819684	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	4436510	17819684	173334592	20	17061											
ENAM	10117	broad.mit.edu	37	chr4	71508380	71508380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggccaaataaacaccctGtaggaactactgttgcccca	13	7	9	12	0	0	0	0	0	0	0	0	1	0	1	4	3	4	2	4	3	6	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr4:71508380G>T	uc011caw.1	+	8	1518	c.1237G>T	c.(1237-1239)Gta>Tta	p.V413L		NM_031889	NP_114095	Q9NRM1	ENAM_HUMAN	Homo sapiens enamelin (ENAM), mRNA.	413					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAAACACCCTGTAGGAACTAC	0.468													T	71508380	G	T	71508380	3	4	245	1	0	0	0	0	1	0	0	0	5153	1377	48	4	1267	4	ENAM	4	71508380	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	53688696	71508380	119645896	21	17062											
HEATR7B2	133558	broad.mit.edu	37	chr5	41009468	41009468	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtttcccactggaggCtggcttttcagccagcgcct	7	10	11	13	1	1	1	1	0	0	1	2	2	2	2	3	3	2	3	3	3	1	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:41009468C>G	uc003jmj.4	-	31	3824	c.3334G>C	c.(3334-3336)Gcc>Ccc	p.A1112P	HEATR7B2_uc003jmi.4_Missense_Mutation_p.A667P	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	1112							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CCACTGGAGGCTGGCTTTTCA	0.498													G	41009468	C	G	41009468	3	3	245	1	0	0	0	0	1	0	0	0	7090	797	28	4	1467	4	HEATR7B2	5	41009468	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		41009468	139905792	22	17063											
PCDHGC5	56112	broad.mit.edu	37	chr5	140724302	140724302	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaagtgatagtcctggaTgcaaatgacaacccaccaat	15	8	7	11	0	0	2	0	2	0	0	2	3	2	3	4	1	2	1	4	1	5	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140724302T>G	uc003ljm.2	+	0	702	c.702T>G	c.(700-702)gaT>gaG	p.D234E	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.D234E	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	234	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGTCCTGGATGCAAATGACA	0.527													G	140724302	T	G	140724302	3	3	245	1	0	0	0	0	1	0	0	0	11647	1461	51	5		5	PCDHGC5	5	140724302	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	99714834	140724302	40190958	23	17064											
PCDHGC5	8641	broad.mit.edu	37	chr5	140768648	140768648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaacttcttcaagaaacacGtataaattagtgacagatgc	16	12	6	7	1	2	3	1	1	1	2	2	3	2	3	0	0	3	1	0	0	7	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:140768648G>A	uc003lkc.2	+	0	1197	c.1197G>A	c.(1195-1197)acG>acA	p.T399T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkb.4_5'UTR	NM_003736	NP_003727	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 4 (PCDHGB4), transcript variant 1, mRNA.	403	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAGAAACACGTATAAATTAG	0.433													A	140768648	G	A	140768648	2	1	245	1	0	0	0	0	0	0	0	1	11647	1132	40	1		1	PCDHGC5	5	140768648	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	44346	140768648	40146612	24	17065											
RNF130	55819	broad.mit.edu	37	chr5	179390508	179390508	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggctctgatgatcaTgtagcagagtgtgagggcac	9	10	15	7	0	2	4	1	3	1	1	2	4	2	4	0	2	2	5	0	2	1	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:179390508T>G	uc003mll.1	-	7	1614	c.1207A>C	c.(1207-1209)Atg>Ctg	p.M403L	RNF130_uc003mlm.1_Intron	NM_018434	NP_060904	Q86XS8	GOLI_HUMAN	Homo sapiens ring finger protein 130 (RNF130), mRNA.	403					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGATGATCATGTAGCAGAGT	0.443													G	179390508	T	G	179390508	3	3	245	1	0	0	0	0	1	0	0	0	13529	1464	51	5	60	5	RNF130	5	179390508	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	38621860	179390508	1524752	25	17066											
TRIM7	81786	broad.mit.edu	37	chr5	180625194	180625194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catccctacctttctcctctTtctccagctctccccgaagg	5	13	4	19	1	4	0	0	0	4	0	8	1	5	0	6	1	2	1	6	1	2	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr5:180625194T>A	uc003mmz.1	-	5	1080	c.1013A>T	c.(1012-1014)aAa>aTa	p.K338I	TRIM7_uc003mmv.1_Missense_Mutation_p.K156I|TRIM7_uc003mmw.1_Missense_Mutation_p.K130I|TRIM7_uc003mmy.1_Missense_Mutation_p.K130I|TRIM7_uc003mmx.1_Missense_Mutation_p.K130I	NM_203293	NP_976041	Q9C029	TRIM7_HUMAN	Homo sapiens tripartite motif containing 7 (TRIM7), transcript variant 1, mRNA.	338	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TTTCTCCTCTTTCTCCAGCTC	0.517													A	180625194	T	A	180625194	3	1	245	1	0	0	0	0	1	0	0	0	16644	1841	64	5	530	5	TRIM7	5	180625194	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	1234686	180625194	290066	26	17067											
LY6G6C	80740	broad.mit.edu	37	chr6	31687971	31687971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgtagcaggagtgacagCgaatgtcagctgggaagaca	12	7	14	8	1	1	2	1	1	0	1	1	5	1	4	1	2	3	3	1	2	3	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:31687971C>A	uc003nwh.3	-	1	117	c.62G>T	c.(61-63)cGc>cTc	p.R21L	LY6G6C_uc010jtd.3_Non-coding_Transcript	NM_025261	NP_079537	O95867	LY66C_HUMAN	Homo sapiens lymphocyte antigen 6 complex, locus G6C (LY6G6C), mRNA.	21	UPAR/Ly6.					anchored to membrane|plasma membrane		p.R21C(1)		NS(1)|large_intestine(1)|lung(1)|skin(1)	4						GGAGTGACAGCGAATGTCAGC	0.592													A	31687971	C	A	31687971	3	1	245	1	0	0	0	0	1	0	0	0	9165	768	27	4	323	4	LY6G6C	6	31687971	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		31687971	139427096	27	17068											
DNAH8	1769	broad.mit.edu	37	chr6	38805720	38805720	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaacctttgttacaggcCagtttcgatgatctgtggag	11	13	10	7	1	1	1	0	1	1	0	2	3	1	2	2	2	2	2	2	2	4	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:38805720C>A	uc021yzh.1	+	32	4477	c.4368C>A	c.(4366-4368)gcC>gcA	p.A1456A	DNAH8_uc003ooe.2_Silent_p.A1239A	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTACAGGCCAGTTTCGATG	0.328													A	38805720	C	A	38805720	2	1	245	1	0	0	0	0	0	0	0	1	4646	581	21	4		4	DNAH8	6	38805720	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	7117749	38805720	132309347	28	17069											
TAAR1	134864	broad.mit.edu	37	chr6	132966395	132966395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatccccaatgtcttcaCagctttcctttctttgcttt	7	17	3	14	0	3	0	1	0	2	0	5	0	5	0	3	0	2	2	3	0	2	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:132966395C>G	uc003qdm.1	-	0	748	c.748G>C	c.(748-750)Gtg>Ctg	p.V250L		NM_138327	NP_612200	Q96RJ0	TAAR1_HUMAN	Homo sapiens trace amine associated receptor 1 (TAAR1), mRNA.	250						plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)	18	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00616)|GBM - Glioblastoma multiforme(226;0.0154)	Amphetamine(DB00182)	AATGTCTTCACAGCTTTCCTT	0.393													G	132966395	C	G	132966395	3	3	245	1	0	0	0	0	1	0	0	0	15586	478	17	4	275	4	TAAR1	6	132966395	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	94160675	132966395	38148672	29	17070											
C6orf211	79624	broad.mit.edu	37	chr6	151789913	151789913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaaatgggtttaccacAatcatatattttggactctg	11	15	9	6	0	2	0	1	0	1	0	2	1	2	1	1	3	1	2	1	3	6	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr6:151789913A>C	uc003qok.1	+	4	1253	c.994A>C	c.(994-996)Aat>Cat	p.N332H	C6orf211_uc011ees.1_Missense_Mutation_p.N213H	NM_024573	NP_078849	Q9H993	CF211_HUMAN	Homo sapiens chromosome 6 open reading frame 211 (C6orf211), mRNA.	332							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		GGTTTACCACAATCATATATT	0.383													C	151789913	A	C	151789913	3	2	245	1	0	0	0	0	1	0	0	0	2376	130	5	5	1012	5	C6orf211	6	151789913	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	18823518	151789913	19325154	30	17071											
MRPL32	64983	broad.mit.edu	37	chr7	42977023	42977023	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagactgcagaaatcagaCgacagatagggaagcaagaa	19	3	13	6	1	1	5	1	0	0	5	1	8	1	6	0	2	2	2	0	2	5	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:42977023C>T	uc003tia.3	+	2	462	c.415C>T	c.(415-417)Cga>Tga	p.R139*	MRPL32_uc003tib.3_Non-coding_Transcript	NM_031903	NP_114109	Q9BYC8	RM32_HUMAN	Homo sapiens mitochondrial ribosomal protein L32 (MRPL32), nuclear gene encoding mitochondrial protein, mRNA.	139					translation	large ribosomal subunit|mitochondrial ribosome	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10						AGAAATCAGACGACAGATAGG	0.493													T	42977023	C	T	42977023	4	4	245	1	0	0	0	0	0	1	0	0	9871	528	19	1	425	1	MRPL32	7	42977023	Nonsense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		42977023	116161640	31	17072											
MYO1G	64005	broad.mit.edu	37	chr7	45016575	45016575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcacggccctggtacctgGcgatggcctcaggcccatac	6	7	12	16	2	2	0	2	0	0	0	2	1	2	0	4	5	2	2	4	5	2	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:45016575G>C	uc003tmh.2	-	1	335	c.191C>G	c.(190-192)gCc>gGc	p.A64G	MYO1G_uc003tmg.2_5'Flank|MYO1G_uc010kym.2_Intron|MYO1G_uc003tmi.1_5'UTR|MYO1G_uc003tmj.2_5'UTR	NM_033054	NP_149043	B0I1T2	MYO1G_HUMAN	Homo sapiens myosin IG (MYO1G), mRNA.	64	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						CTGGTACCTGGCGATGGCCTC	0.627													C	45016575	G	C	45016575	3	2	245	1	0	0	0	0	1	0	0	0	10150	1203	42	4	2949	4	MYO1G	7	45016575	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	2039552	45016575	114122088	32	17073											
FZD1	8321	broad.mit.edu	37	chr7	90895152	90895152	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggagctgcgcttctcGcgcacctggattggcatttg	5	10	13	13	4	1	0	0	0	1	0	2	3	1	2	2	3	2	4	2	3	0	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:90895152G>A	uc003ula.3	+	0	1370	c.957G>A	c.(955-957)tcG>tcA	p.S319S		NM_003505	NP_003496	Q9UP38	FZD1_HUMAN	Homo sapiens frizzled family receptor 1 (FZD1), mRNA.	319					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			TGCGCTTCTCGCGCACCTGGA	0.617													A	90895152	G	A	90895152	2	1	245	1	0	0	0	0	0	0	0	1	6180	1074	38	1		1	FZD1	7	90895152	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	45878577	90895152	68243511	33	17074											
TAF6	6878	broad.mit.edu	37	chr7	99705016	99705016	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggggacgatgccgggggAggaactggagaaggatggga	11	3	22	5	3	0	1	0	0	0	1	0	9	0	6	1	8	2	0	1	8	2	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:99705016A>G	uc003uth.3	-	13	2195	c.2058T>C	c.(2056-2058)ccT>ccC	p.P686P	AP4M1_uc003utd.3_Intron|TAF6_uc003utg.3_Silent_p.P551P|TAF6_uc003utm.3_Silent_p.P629P|TAF6_uc003uti.3_Silent_p.P629P|TAF6_uc003utk.3_Silent_p.P629P|TAF6_uc011kji.2_Silent_p.P666P	NM_139315	NP_647476	P49848	TAF6_HUMAN	Homo sapiens TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa (TAF6), transcript variant 2, mRNA.	629					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ATGCCGGGGGAGGAACTGGAG	0.647													G	99705016	A	G	99705016	2	3	245	1	0	0	0	0	0	0	0	1	15627	291	11	3		3	TAF6	7	99705016	Silent	SNP	A	TCGA-41-2575-01A-01D-1495-08	8809864	99705016	59433647	34	17075											
ZCWPW1	55063	broad.mit.edu	37	chr7	100017408	100017408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtctctggggaactgatccCcggggtctcctccttagggg	4	11	14	12	1	2	1	0	1	2	0	6	2	4	2	4	6	1	0	4	6	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr7:100017408C>A	uc003uut.3	-	3	375	c.127G>T	c.(127-129)Ggg>Tgg	p.G43W	ZCWPW1_uc011kjq.2_5'Flank|ZCWPW1_uc003uur.3_5'Flank|ZCWPW1_uc003uus.3_5'UTR|ZCWPW1_uc011kjr.2_Missense_Mutation_p.G42W|ZCWPW1_uc003uuu.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kjt.1_Missense_Mutation_p.G42W|ZCWPW1_uc011kju.1_Missense_Mutation_p.G42W	NM_017984	NP_060454	Q9H0M4	ZCPW1_HUMAN	Homo sapiens zinc finger, CW type with PWWP domain 1 (ZCWPW1), mRNA.	43							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAACTGATCCCCGGGGTCTCC	0.493													A	100017408	C	A	100017408	3	1	245	1	0	0	0	0	1	0	0	0	17698	623	22	4	1879	4	ZCWPW1	7	100017408	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	312392	100017408	59121255	35	17076											
KCNU1	157855	broad.mit.edu	37	chr8	36766969	36766969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tataccaggaaggagctgaaGgacatagtgttcattgggtc	12	10	13	6	0	1	1	1	1	0	0	2	4	1	4	1	4	2	2	1	4	5	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:36766969G>T	uc010lvw.3	+	20	2334	c.2247G>T	c.(2245-2247)aaG>aaT	p.K749N	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	749						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		AGGAGCTGAAGGACATAGTGT	0.458													T	36766969	G	T	36766969	3	4	245	1	0	0	0	0	1	0	0	0	8151	991	35	4	2329	4	KCNU1	8	36766969	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		36766969	109597053	36	17077											
FGFR1	2260	broad.mit.edu	37	chr8	38282202	38282202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcttgcaggatgggcCggtgaggggaccgctctgtg	5	8	17	11	2	1	1	0	1	1	0	1	3	1	3	3	5	2	3	3	5	0	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:38282202C>A	uc022aua.1	-	6	1703	c.761G>T	c.(760-762)cGg>cTg	p.R254L	FGFR1_uc011lbu.2_Missense_Mutation_p.R285L|FGFR1_uc011lbv.2_Missense_Mutation_p.R252L|FGFR1_uc011lbw.2_Missense_Mutation_p.R165L|FGFR1_uc003xlp.3_Missense_Mutation_p.R254L|FGFR1_uc022aub.1_Missense_Mutation_p.R252L|FGFR1_uc022auc.1_Missense_Mutation_p.R165L|FGFR1_uc022aud.1_Missense_Mutation_p.R163L|FGFR1_uc010lwk.3_Missense_Mutation_p.R246L|FGFR1_uc011lbr.2_Non-coding_Transcript|FGFR1_uc011lbs.2_Missense_Mutation_p.R94L|FGFR1_uc011lbt.1_Missense_Mutation_p.R163L|FGFR1_uc011lbx.1_Missense_Mutation_p.R165L|FGFR1_uc003xlv.3_Missense_Mutation_p.R165L|FGFR1_uc003xlu.3_Missense_Mutation_p.R163L	NM_023110	NP_075598	P11362	FGFR1_HUMAN	Homo sapiens fibroblast growth factor receptor 1 (FGFR1), transcript variant 1, mRNA.	254			R -> Q (in KAL2).		axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGGATGGGCCGGTGAGGGGA	0.612		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						A	38282202	C	A	38282202	3	1	245	1	0	0	0	0	1	0	0	0	5912	652	23	4	1995	4	FGFR1	8	38282202	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	1515233	38282202	108081820	37	17078											
FNTA	2339	broad.mit.edu	37	chr8	42927324	42927324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcccttctttgggctttagGcatcataggcgagtattagt	7	15	10	9	1	2	0	1	0	1	0	3	1	3	0	1	3	0	3	1	3	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:42927324G>C	uc003xps.3	+	5	555	c.507_splice	c.e5-1	p.W169_splice	FNTA_uc003xpt.3_Splice_Site_p.W78_splice|FNTA_uc003xpv.3_Splice_Site	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	169					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			TGGGCTTTAGGCATCATAGGC	0.368													C	42927324	G	C	42927324	3	2	245	1	0	0	0	0	1	0	0	0	6026	1217	42	4	525	4	FNTA	8	42927324	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	4645122	42927324	103436698	38	17079											
PXDNL	137902	broad.mit.edu	37	chr8	52339264	52339264	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgacatgaaatgtttataTtctttccaacctcgacactt	12	15	4	10	1	1	2	0	2	1	0	3	3	2	2	2	0	1	1	2	0	4	6			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:52339264T>G	uc003xqu.4	-	12	1681	c.1580A>C	c.(1579-1581)aAt>aCt	p.N527T		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	527	Ig-like C2-type 4.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AATGTTTATATTCTTTCCAAC	0.338													G	52339264	T	G	52339264	3	3	245	1	0	0	0	0	1	0	0	0	12936	1493	52	5	2855	5	PXDNL	8	52339264	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	9411940	52339264	94024758	39	17080											
UBXN2B	137886	broad.mit.edu	37	chr8	59345800	59345800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaaaatcagctgcaaGatgtaggtacaataatcaaa	19	8	9	5	0	2	2	2	0	0	2	2	3	2	2	0	2	3	4	0	2	8	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:59345800G>T	uc003xtl.3	+	3	543	c.421G>T	c.(421-423)Gat>Tat	p.D141Y		NM_001077619	NP_001071087	Q14CS0	UBX2B_HUMAN	Homo sapiens UBX domain protein 2B (UBXN2B), mRNA.	141	SEP.					cytosol|endoplasmic reticulum|Golgi apparatus|nucleus				endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13						TCAGCTGCAAGATGTAGGTAC	0.284													T	59345800	G	T	59345800	3	4	245	1	0	0	0	0	1	0	0	0	17017	942	33	4	435	4	UBXN2B	8	59345800	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	7006536	59345800	87018222	40	17081											
LRRCC1	85444	broad.mit.edu	37	chr8	86047170	86047170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgaaaagaaaatgagtcttCctctttaattaaagatctga	17	12	6	6	1	3	4	0	2	3	2	4	5	4	4	1	0	0	0	1	0	7	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:86047170C>T	uc003ycw.3	+	12	2265	c.2057C>T	c.(2056-2058)tCc>tTc	p.S686F	LRRCC1_uc022awx.1_Missense_Mutation_p.S593F|LRRCC1_uc010maa.2_Missense_Mutation_p.S387F|LRRCC1_uc003ycy.3_Missense_Mutation_p.S666F	NM_033402	NP_208325	Q9C099	LRCC1_HUMAN	Homo sapiens leucine rich repeat and coiled-coil domain containing 1 (LRRCC1), mRNA.	686					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AATGAGTCTTCCTCTTTAATT	0.333													T	86047170	C	T	86047170	3	4	245	1	0	0	0	0	1	0	0	0	9096	855	30	2	2107	2	LRRCC1	8	86047170	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	26701370	86047170	60316852	41	17082											
GRHL2	79977	broad.mit.edu	37	chr8	102649132	102649132	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgttccacaggtgtattAcaacacggatgatgaacgag	12	12	10	7	2	0	2	0	2	0	0	1	4	1	3	1	2	3	2	1	2	4	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:102649132A>G	uc010mbu.3	+	11	1823	c.1493A>G	c.(1492-1494)tAc>tGc	p.Y498C		NM_024915	NP_079191	Q6ISB3	GRHL2_HUMAN	Homo sapiens grainyhead-like 2 (Drosophila) (GRHL2), mRNA.	498						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGGTGTATTACAACACGGAT	0.408													G	102649132	A	G	102649132	3	3	245	1	0	0	0	0	1	0	0	0	6819	391	14	3	1539	3	GRHL2	8	102649132	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	16601962	102649132	43714890	42	17083											
PLEC	5339	broad.mit.edu	37	chr8	144996426	144996426	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttggccacctcgtcCtggaagagctgctccagctt	5	11	11	14	1	0	1	0	0	0	1	3	2	2	2	5	2	4	3	5	2	1	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr8:144996426C>T	uc003zaf.1	-	31	8144	c.7974G>A	c.(7972-7974)caG>caA	p.Q2658Q	PLEC_uc003zab.1_Silent_p.Q2521Q|PLEC_uc003zac.1_Silent_p.Q2525Q|PLEC_uc003zad.2_Silent_p.Q2521Q|PLEC_uc003zae.1_Silent_p.Q2489Q|PLEC_uc003zag.1_Silent_p.Q2499Q|PLEC_uc003zah.2_Silent_p.Q2507Q|PLEC_uc003zaj.2_Silent_p.Q2548Q	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	2658	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCACCTCGTCCTGGAAGAGCT	0.642													T	144996426	C	T	144996426	2	4	245	1	0	0	0	0	0	0	0	1	12129	680	24	2		2	PLEC	8	144996426	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	42347294	144996426	1367596	43	17084											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177706	70177706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgccgcagaccttggcGgtgccctgaacttggtgcca	6	7	14	14	3	0	2	0	1	0	1	0	2	0	2	5	4	3	1	5	4	1	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr9:70177706G>A	uc010moc.3	-	0	1110	c.278C>T	c.(277-279)cCg>cTg	p.P93L		NM_001126334	NP_001119806	Q5VV16	FX4L5_HUMAN	Homo sapiens forkhead box D4-like 5 (FOXD4L5), mRNA.	93					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P93P(1)		endometrium(5)|lung(2)	7						AGACCTTGGCGGTGCCCTGAA	0.682													A	70177706	G	A	70177706	3	1	245	1	0	0	0	0	1	0	0	0	6053	1116	39	1	976	1	FOXD4L5	9	70177706	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		70177706	71035725	44	17085											
RET	5979	broad.mit.edu	37	chr10	43597850	43597850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcacccacatcccttcGtgagggcgagtgccagtggc	6	8	12	15	2	1	1	1	1	0	0	3	2	2	1	4	2	1	0	4	2	0	1	rs138265837		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:43597850G>A	uc001jal.3	+	2	588	c.398G>A	c.(397-399)cGt>cAt	p.R133H	RET_uc001jak.1_Missense_Mutation_p.R133H|RET_uc010qez.1_5'Flank	NM_020975	NP_066124	P07949	RET_HUMAN	Homo sapiens ret proto-oncogene (RET), transcript variant 2, mRNA.	133					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACATCCCTTCGTGAGGGCGAG	0.617		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				A	43597850	G	A	43597850	3	1	245	1	0	0	0	0	1	0	0	0	13323	1145	40	1	408	1	RET	10	43597850	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		43597850	91936897	45	17086											
FAM13C	220965	broad.mit.edu	37	chr10	61022289	61022289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagaggagcttggctccgGgcccgcagcttccggtttcc	4	9	13	15	3	0	1	0	0	0	1	4	2	4	2	5	4	2	5	5	4	0	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr10:61022289G>C	uc010qif.1	-	9	1273	c.1207C>G	c.(1207-1209)Ccg>Gcg	p.P403A	FAM13C_uc010qid.2_Missense_Mutation_p.P298A|FAM13C_uc001jkn.3_Missense_Mutation_p.P381A|FAM13C_uc001jko.3_Intron|FAM13C_uc010qie.2_Missense_Mutation_p.P298A|FAM13C_uc001jkp.3_Missense_Mutation_p.P298A	NM_198215	NP_937858	Q8NE31	FA13C_HUMAN	Homo sapiens family with sequence similarity 13, member C (FAM13C), transcript variant 1, mRNA.	381										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CTTGGCTCCGGGCCCGCAGCT	0.547													C	61022289	G	C	61022289	3	2	245	1	0	0	0	0	1	0	0	0	5499	1232	43	4	636	4	FAM13C	10	61022289	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	17424439	61022289	74512458	46	17087											
RNH1	6050	broad.mit.edu	37	chr11	494709	494709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcaggagatgaccctcagGgatggcttgtccttctccag	7	10	11	13	0	3	2	2	1	1	1	5	4	4	3	4	3	0	1	4	3	0	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:494709G>A	uc001lpk.1	-	8	2776	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S	RNH1_uc001lpl.1_Silent_p.S456S|RNH1_uc001lpm.1_Silent_p.S456S|RNH1_uc001lpn.1_Silent_p.S456S|RNH1_uc001lpo.1_Silent_p.S456S|RNH1_uc001lpp.2_Silent_p.S456S|RNH1_uc001lpq.2_Silent_p.S456S|RNH1_uc001lpr.2_Silent_p.S456S|RNH1_uc001lps.2_Silent_p.S456S	NM_203389	NP_976323	P13489	RINI_HUMAN	Homo sapiens ribonuclease/angiogenin inhibitor 1 (RNH1), transcript variant 8, mRNA.	456					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCCTCAGGGATGGCTTGT	0.647													A	494709	G	A	494709	2	1	245	1	0	0	0	0	0	0	0	1	13595	1219	43	2		2	RNH1	11	494709	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08		494709	134511807	47	17088											
CD59	966	broad.mit.edu	37	chr11	33731856	33731856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgttgaaattgcaatgcTcaaacttccaacacttgtta	12	13	6	10	2	1	1	1	1	0	0	3	1	2	1	1	0	4	4	1	0	5	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:33731856T>C	uc001mus.4	-	2	485	c.203A>G	c.(202-204)gAg>gGg	p.E68G	CD59_uc009yjx.3_Missense_Mutation_p.E68G|CD59_uc009yjy.3_Missense_Mutation_p.E68G|CD59_uc009yjz.3_Missense_Mutation_p.E68G|CD59_uc001mut.4_Missense_Mutation_p.E68G|CD59_uc009yka.3_Missense_Mutation_p.E68G|CD59_uc001muu.4_Missense_Mutation_p.E68G|CD59_uc001muv.4_Missense_Mutation_p.E68G	NM_001127223	NP_976076	P13987	CD59_HUMAN	Homo sapiens CD59 molecule, complement regulatory protein (CD59), transcript variant 5, mRNA.	68	UPAR/Ly6.				blood coagulation|cell surface receptor linked signaling pathway	anchored to external side of plasma membrane|extracellular region|membrane fraction				endometrium(1)|lung(2)	3						ATTGCAATGCTCAAACTTCCA	0.433													C	33731856	T	C	33731856	3	2	245	1	0	0	0	0	1	0	0	0	3056	1551	54	3	187	3	CD59	11	33731856	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	33237147	33731856	101274660	48	17089											
OR5AK2	390181	broad.mit.edu	37	chr11	56756567	56756567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatttcaaacactcacgtActtttttctacaacatttgg	12	15	4	10	1	3	1	2	0	1	1	3	1	3	1	0	1	4	1	0	1	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:56756567A>G	uc010rjp.2	+	0	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005323	NP_001005323	Q8NH90	O5AK2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AK, member 2 (OR5AK2), mRNA.	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T59T(1)		breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						ACACTCACGTACTTTTTTCTA	0.358													G	56756567	A	G	56756567	3	3	245	1	0	0	0	0	1	0	0	0	11218	391	14	3	181	3	OR5AK2	11	56756567	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	23024711	56756567	78249949	49	17090											
PC	5091	broad.mit.edu	37	chr11	66618277	66618277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcacaggccagcatggctgCcacgcctgcccctgacgtgt	6	6	13	16	2	0	1	0	1	0	0	0	1	0	1	5	3	3	3	5	3	0	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr11:66618277C>A	uc001ojn.1	-	15	2390	c.2341G>T	c.(2341-2343)Gca>Tca	p.A781S	PC_uc001ojo.1_Missense_Mutation_p.A781S|PC_uc001ojp.1_Missense_Mutation_p.A781S	NM_022172	NP_071504	P11498	PYC_HUMAN	Homo sapiens pyruvate carboxylase (PC), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	781	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	AGCATGGCTGCCACGCCTGCC	0.657													A	66618277	C	A	66618277	3	1	245	1	0	0	0	0	1	0	0	0	11573	739	26	4	1219	4	PC	11	66618277	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	9861710	66618277	68388239	50	17091											
SLC38A4	55089	broad.mit.edu	37	chr12	47163207	47163207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtgtgatcactgatgtaCgaatcttaaacaagaaagtt	16	11	8	6	1	2	3	1	2	1	1	2	4	2	3	0	0	2	2	0	0	6	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:47163207C>T	uc001rpi.2	-	14	1703	c.1304G>A	c.(1303-1305)cGt>cAt	p.R435H	SLC38A4_uc001rpj.2_Missense_Mutation_p.R435H	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	435					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CACTGATGTACGAATCTTAAA	0.353													T	47163207	C	T	47163207	3	4	245	1	0	0	0	0	1	0	0	0	14700	536	19	1	351	1	SLC38A4	12	47163207	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		47163207	86688688	51	17092											
TFCP2	7024	broad.mit.edu	37	chr12	51501060	51501060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataggaaggctgatatttctCcttttcatgaggtgttcgtt	8	17	10	6	1	2	2	1	2	1	0	4	3	2	3	1	3	0	3	1	3	3	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr12:51501060C>T	uc001rxw.3	-	6	1508	c.787G>A	c.(787-789)Gag>Aag	p.E263K	TFCP2_uc001rxv.2_Missense_Mutation_p.E263K|TFCP2_uc009zlx.2_Missense_Mutation_p.E212K|TFCP2_uc009zly.1_Missense_Mutation_p.E165K	NM_005653	NP_005644	Q12800	TFCP2_HUMAN	Homo sapiens transcription factor CP2 (TFCP2), transcript variant 1, mRNA.	263	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						TGATATTTCTCCTTTTCATGA	0.323													T	51501060	C	T	51501060	3	4	245	1	0	0	0	0	1	0	0	0	15895	864	30	2	757	2	TFCP2	12	51501060	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	4337853	51501060	82350835	52	17093											
PCDH9	5101	broad.mit.edu	37	chr13	67802278	67802279	+	Frame_Shift_Del	DEL	CA	CA	-																															ctcagcatatgaggcgccagCacagagtttttctctgtcta																										TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:67802278_67802279delCA	uc001vik.3	-	1	986_987	c.294_295delTG	c.(292-297)tgtgctfs	p.C98fs	PCDH9_uc001vil.3_Frame_Shift_Del_p.C98fs|PCDH9_uc010thl.2_Frame_Shift_Del_p.C98fs|PCDH9_uc001vin.3_Frame_Shift_Del_p.C98fs	NM_203487	NP_982354	Q9HC56	PCDH9_HUMAN	Homo sapiens protocadherin 9 (PCDH9), transcript variant 1, mRNA.	98	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GAGGCGCCAGCACAGAGTTTTT	0.436													-	67802279	CA	-	67802278	7	5	245	1	0	1	0	1	0	0	0	0	11594	710	25	0	3434	0	PCDH9	13	67802278	Frame_Shift_Del	DEL	CA	TCGA-41-2575-01A-01D-1495-08		67802278	47367600	53	17094											
FARP1	10160	broad.mit.edu	37	chr13	99061722	99061722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcccttgatcagcccGctgctgaatgaccaggcctg	6	9	10	16	1	2	3	1	3	1	0	3	3	2	3	5	1	2	2	5	1	1	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr13:99061722G>A	uc001vnh.3	+	13	1784	c.1545G>A	c.(1543-1545)ccG>ccA	p.P515P	FARP1_uc001vnj.3_Silent_p.P515P	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	515					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TGATCAGCCCGCTGCTGAATG	0.652													A	99061722	G	A	99061722	2	1	245	1	0	0	0	0	0	0	0	1	5725	1074	38	1		1	FARP1	13	99061722	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	31259444	99061722	16108156	54	17095											
RNASE2	6036	broad.mit.edu	37	chr14	21424331	21424331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaccagcaaacatgttctAtatagttgcatgtgacaaca	15	10	7	9	0	1	1	0	1	1	0	1	2	1	1	1	0	4	4	1	0	5	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:21424331A>T	uc021ros.1	+	0	401	c.401A>T	c.(400-402)tAt>tTt	p.Y134F	RNASE2_uc010aif.2_Missense_Mutation_p.Y134F|RNASE2_uc001vyl.1_Missense_Mutation_p.Y134F	NM_002934	NP_002925	P10153	RNAS2_HUMAN	Homo sapiens ribonuclease, RNase A family, 2 (liver, eosinophil-derived neurotoxin) (RNASE2), mRNA.	134					chemotaxis|RNA catabolic process	extracellular region|lysosome	nucleic acid binding|pancreatic ribonuclease activity			breast(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	17	all_cancers(95;0.00381)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)		AACATGTTCTATATAGTTGCA	0.463													T	21424331	A	T	21424331	3	4	245	1	0	0	0	0	1	0	0	0	13495	449	16	5	403	5	RNASE2	14	21424331	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		21424331	85925209	55	17096											
KCNH5	27133	broad.mit.edu	37	chr14	63316419	63316419	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccatgttgagacaatataAtccatgactcgctcactaag	14	10	7	10	1	1	2	1	2	0	1	3	4	2	2	2	0	0	2	2	0	4	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr14:63316419A>T	uc001xfx.3	-	7	1572	c.1521T>A	c.(1519-1521)gaT>gaA	p.D507E	KCNH5_uc001xfy.3_Missense_Mutation_p.D507E|KCNH5_uc001xfz.1_Missense_Mutation_p.D449E	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	507					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AGACAATATAATCCATGACTC	0.378													T	63316419	A	T	63316419	3	4	245	1	0	0	0	0	1	0	0	0	8093	98	4	5	1495	5	KCNH5	14	63316419	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	41892088	63316419	44033121	56	17097											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059849	79059849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctcatccagccccaCgctgcggatgcagagcacgg	7	6	12	16	3	2	1	1	0	1	1	3	2	3	2	3	2	5	5	3	2	0	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:79059849C>T	uc002bej.4	-	17	2942	c.2731G>A	c.(2731-2733)Gtg>Atg	p.V911M	ADAMTS7_uc010und.1_Intron	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	911	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V911M(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						TCCAGCCCCACGCTGCGGATG	0.706													T	79059849	C	T	79059849	3	4	245	1	0	0	0	0	1	0	0	0	271	536	19	1	2357	1	ADAMTS7	15	79059849	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		79059849	23471543	57	17098											
ADAMTS17	170691	broad.mit.edu	37	chr15	100591784	100591784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggccactcacctccgccGcactgcacactgcacccttc	7	6	6	22	3	1	0	1	0	0	0	3	0	2	0	5	1	2	3	5	1	0	1	rs146325180	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr15:100591784G>A	uc002bvv.1	-	16	2527	c.2448C>T	c.(2446-2448)tgC>tgT	p.C816C		NM_139057	NP_620688	Q8TE56	ATS17_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 17 (ADAMTS17), mRNA.	816	TSP type-1 2.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.C816C(2)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		CACCTCCGCCGCACTGCACAC	0.567													A	100591784	G	A	100591784	2	1	245	1	0	0	0	0	0	0	0	1	262	1079	38	1		1	ADAMTS17	15	100591784	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	21531935	100591784	1939608	58	17099											
IL4R	3566	broad.mit.edu	37	chr16	27374437	27374437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggagcagggtggcacccaGgccagtgcggtggtgggctt	5	7	20	9	1	0	0	0	0	0	0	0	1	0	1	2	7	2	3	2	7	0	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr16:27374437G>A	uc002don.3	+	10	2006	c.1764G>A	c.(1762-1764)caG>caA	p.Q588Q	IL4R_uc002dop.4_Silent_p.Q573Q|IL4R_uc010bxy.3_Silent_p.Q588Q|IL4R_uc002doo.3_Silent_p.Q428Q	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	588	Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						GTGGCACCCAGGCCAGTGCGG	0.637													A	27374437	G	A	27374437	2	1	245	1	0	0	0	0	0	0	0	1	7756	991	35	2		2	IL4R	16	27374437	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08		27374437	62980316	59	17100											
YWHAE	7531	broad.mit.edu	37	chr17	1303395	1303395	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtacaccagatcctctcGatcatccatagcggcagcgg	9	8	10	14	3	2	1	1	0	1	1	5	2	4	1	3	3	3	2	3	3	2	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:1303395G>A	uc002fsj.3	-	0	162	c.10C>T	c.(10-12)Cga>Tga	p.R4*	YWHAE_uc002fsk.3_5'UTR|YWHAE_uc010vqh.2_Non-coding_Transcript|YWHAE_uc010vqi.2_Non-coding_Transcript	NM_006761	NP_006752	P62258	1433E_HUMAN	Homo sapiens tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide (YWHAE), transcript variant 1, mRNA.	4					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		AGATCCTCTCGATCATCCATA	0.657			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						A	1303395	G	A	1303395	4	1	245	1	0	0	0	0	0	1	0	0	17604	1066	37	1	781	1	YWHAE	17	1303395	Nonsense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		1303395	79891815	60	17101											
YBX2	51087	broad.mit.edu	37	chr17	7194458	7194458	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagtctccccatctccaAcgctgcgcagaaacttcctg	9	8	6	18	2	2	1	0	0	2	1	5	1	3	1	5	0	3	2	5	0	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7194458A>G	uc002gfq.2	-	3	470	c.413T>C	c.(412-414)gTt>gCt	p.V138A		NM_015982	NP_057066	Q9Y2T7	YBOX2_HUMAN	Homo sapiens Y box binding protein 2 (YBX2), mRNA.	138	CSD.|Required for cytoplasmic retention (By similarity).				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						CCCATCTCCAACGCTGCGCAG	0.502													G	7194458	A	G	7194458	3	3	245	1	0	0	0	0	1	0	0	0	17572	43	2	3	701	3	YBX2	17	7194458	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	5891063	7194458	74000752	61	17102											
TP53	7157	broad.mit.edu	37	chr17	7577609	7577609	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtacagtcagagccaacCtaggagataacacaggccca	14	5	11	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	4	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:7577609C>G	uc002gim.2	-	7	867	c.673_splice	c.e7-1	p.V225_splice	TP53_uc002gig.1_Splice_Site_p.V225_splice|TP53_uc002gih.3_Splice_Site_p.V225_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Splice_Site_p.V93_splice|TP53_uc010cnf.1_Splice_Site_p.V93_splice|TP53_uc002gii.1_Splice_Site_p.V93_splice|TP53_uc010cni.1_Splice_Site_p.V225_splice|TP53_uc010cnh.1_Splice_Site_p.V225_splice|TP53_uc002gij.2_Splice_Site_p.V225_splice|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Intron|TP53_uc002gio.2_Intron|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	225	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in a sporadic cancer; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in a sporadic cancer; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.?(33)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAGAGCCAACCTAGGAGATAA	0.527		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)			G	7577609	C	G	7577609	5	3	245	1	0	0	0	0	0	0	1	0	16482	695	24	4	618	4	TP53	17	7577609	Splice_Site	SNP	C	TCGA-41-2575-01A-01D-1495-08	383151	7577609	73617601	62	17103											
WDR16	146845	broad.mit.edu	37	chr17	9546402	9546402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaagtgactcacgttgggGtgggacacagtggcaacatc	10	8	15	8	1	1	2	1	2	0	0	2	3	1	3	0	4	1	2	0	4	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:9546402G>T	uc010coc.3	+	14	2009	c.1780G>T	c.(1780-1782)Gtg>Ttg	p.V594L	USP43_uc002gma.4_5'Flank|USP43_uc010cod.3_5'Flank|USP43_uc010vva.2_5'Flank|WDR16_uc002gly.3_Missense_Mutation_p.V584L|WDR16_uc002glz.3_Missense_Mutation_p.V516L			Q8N1V2	WDR16_HUMAN	Homo sapiens WD repeat domain 16 (WDR16), transcript variant 2, mRNA.	584						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						TCACGTTGGGGTGGGACACAG	0.443													T	9546402	G	T	9546402	3	4	245	1	0	0	0	0	1	0	0	0	17378	1261	44	4	1804	4	WDR16	17	9546402	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	1968793	9546402	71648808	63	17104											
BRCA1	672	broad.mit.edu	37	chr17	41245683	41245683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgactactagttcaagcGcatgaatatgcctggtagaa	13	11	9	8	1	1	3	1	2	0	1	1	3	1	3	1	1	4	3	1	1	8	6	rs56039126		TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:41245683G>A	uc002icq.3	-	9	2097	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.A551V|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.A575V|BRCA1_uc002ict.3_Missense_Mutation_p.A622V|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.A622V|BRCA1_uc002ide.1_Missense_Mutation_p.A453V|BRCA1_uc010cyy.1_Missense_Mutation_p.A622V|BRCA1_uc010whs.1_Missense_Mutation_p.A622V|BRCA1_uc010cyz.2_Missense_Mutation_p.A575V|BRCA1_uc010cza.2_Missense_Mutation_p.A596V|BRCA1_uc010wht.1_Missense_Mutation_p.A326V	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	622					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TAGTTCAAGCGCATGAATATG	0.358			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			A	41245683	G	A	41245683	3	1	245	1	0	0	0	0	1	0	0	0	1507	1087	38	1	3852	1	BRCA1	17	41245683	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08	31699281	41245683	39949527	64	17105											
CSH2	1443	broad.mit.edu	37	chr17	61950623	61950623	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagcctggataacggaacGgtttggacggcaccagcctc	12	6	12	11	3	0	0	0	0	0	0	1	3	0	3	3	5	4	2	3	5	4	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:61950623G>A	uc002jch.3	-	1	202	c.87C>T	c.(85-87)acC>acT	p.T29T	CSH2_uc002jci.3_Silent_p.T29T|CSH2_uc002jcg.3_Silent_p.T29T	NM_020991	NP_066271	P01243	CSH_HUMAN	Homo sapiens chorionic somatomammotropin hormone 2 (CSH2), transcript variant 1, mRNA.	29					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding	p.T29T(3)|p.T29N(1)		endometrium(2)|large_intestine(1)|lung(3)	6						ATAACGGAACGGTTTGGACGG	0.597													A	61950623	G	A	61950623	2	1	245	1	0	0	0	0	0	0	0	1	3974	1103	39	1		1	CSH2	17	61950623	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	20704940	61950623	19244587	65	17106											
BPTF	2186	broad.mit.edu	37	chr17	65888098	65888098	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcagctgaagagccagcAggtggcagccgctgcacatg	10	6	14	11	1	1	2	1	1	0	1	1	2	1	2	2	2	5	5	2	2	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:65888098A>T	uc002jgf.3	+	4	2064	c.2003A>T	c.(2002-2004)cAg>cTg	p.Q668L	BPTF_uc002jge.3_Missense_Mutation_p.Q794L|BPTF_uc010wqm.1_Missense_Mutation_p.Q731L	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	794	Interaction with KEAP1.				brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAGAGCCAGCAGGTGGCAGCC	0.433													T	65888098	A	T	65888098	3	4	245	1	0	0	0	0	1	0	0	0	1504	188	7	5	2407	5	BPTF	17	65888098	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	3937475	65888098	15307112	66	17107											
ABCA6	23460	broad.mit.edu	37	chr17	67077247	67077247	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgatagagggtaaacGtctgccacgggcagcttata	10	10	13	8	2	2	2	0	1	2	1	2	2	2	2	1	2	3	3	1	2	5	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr17:67077247G>A	uc002jhw.1	-	36	4831	c.4656C>T	c.(4654-4656)gaC>gaT	p.D1552D		NM_080284	NP_525023	Q8N139	ABCA6_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 6 (ABCA6), mRNA.	1552					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					GAGGGTAAACGTCTGCCACGG	0.373													A	67077247	G	A	67077247	2	1	245	1	0	0	0	0	0	0	0	1	36	1136	40	1		1	ABCA6	17	67077247	Silent	SNP	G	TCGA-41-2575-01A-01D-1495-08	1189149	67077247	14117963	67	17108											
SERPINB3	6317	broad.mit.edu	37	chr18	61323102	61323102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagatagcacgagaccgCggctcccggtcatgcctgag	8	6	12	15	4	1	3	1	1	0	2	3	4	3	3	4	2	2	2	4	2	1	1	rs140650845	by1000genomes	TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr18:61323102C>T	uc002lji.3	-	7	1106	c.962G>A	c.(961-963)cGc>cAc	p.R321H	SERPINB3_uc002ljg.3_Intron|SERPINB3_uc010dqa.3_Missense_Mutation_p.R269H	NM_006919	NP_008850	P29508	SPB3_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 3 (SERPINB3), mRNA.	321					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CACGAGACCGCGGCTCCCGGT	0.542													T	61323102	C	T	61323102	3	4	245	1	0	0	0	0	1	0	0	0	14195	768	27	1	214	1	SERPINB3	18	61323102	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08		61323102	16754146	68	17109											
VAV1	7409	broad.mit.edu	37	chr19	6828653	6828653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctggctcagtgcgtgaaCgaggtcaagcgagacaacga	12	5	14	10	4	2	2	2	1	0	1	2	6	2	2	1	2	4	1	1	2	3	0			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:6828653C>T	uc002mfu.1	+	11	1210	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	VAV1_uc010xjh.1_Silent_p.N339N|VAV1_uc010dva.1_Silent_p.N371N|VAV1_uc002mfv.1_Silent_p.N316N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	371	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGTGCGTGAACGAGGTCAAGC	0.637													T	6828653	C	T	6828653	2	4	245	1	0	0	0	0	0	0	0	1	17233	535	19	1		1	VAV1	19	6828653	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08		6828653	52300330	69	17110											
TMEM205	374882	broad.mit.edu	37	chr19	11453778	11453778	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtggccagcgtaaggcTcaggaacagcaggtaaagct	13	5	14	9	1	1	0	1	0	0	0	1	2	1	1	1	4	4	5	1	4	4	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:11453778T>G	uc002mra.2	-	3	590	c.283A>C	c.(283-285)Agc>Cgc	p.S95R	TMEM205_uc002mrb.2_Missense_Mutation_p.S95R|TMEM205_uc002mqz.2_Missense_Mutation_p.S95R	NM_033408	NP_940938	Q6UW68	TM205_HUMAN	Homo sapiens transmembrane protein 205 (TMEM205), transcript variant 2, mRNA.	95						integral to membrane				endometrium(1)|lung(1)	2						AGCGTAAGGCTCAGGAACAGC	0.642													G	11453778	T	G	11453778	3	3	245	1	0	0	0	0	1	0	0	0	16230	1551	54	5	290	5	TMEM205	19	11453778	Missense_Mutation	SNP	T	TCGA-41-2575-01A-01D-1495-08	4625125	11453778	47675205	70	17111											
MLL2	9757	broad.mit.edu	37	chr19	36210728	36210728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcaagcataagacgacccCccttcctcctcctcgcctag	8	8	6	19	3	0	1	0	0	0	1	5	2	3	1	7	0	1	2	7	0	3	3			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:36210728C>A	uc021usv.1	+	2	479	c.479C>A	c.(478-480)cCc>cAc	p.P160H	MLL2_uc021usu.1_5'UTR	NM_014727	NP_055542	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 4 (MLL4), mRNA.	1855					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						AAGACGACCCCCCTTCCTCCT	0.612			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			A	36210728	C	A	36210728	3	1	245	1	0	0	0	0	1	0	0	0	9696	623	22	4		4	MLL2	19	36210728	Missense_Mutation	SNP	C	TCGA-41-2575-01A-01D-1495-08	24756950	36210728	22918255	71	17112											
LILRA4	23547	broad.mit.edu	37	chr19	54848149	54848149	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggctcactggggtgagaCagcaggtaggggttggagct	8	7	20	6	0	1	1	1	1	0	1	1	3	1	2	0	8	2	5	0	8	1	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:54848149C>G	uc002qfj.3	-	5	1275	c.1218G>C	c.(1216-1218)ctG>ctC	p.L406L	LILRA4_uc002qfi.3_Silent_p.L340L	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	406	Ig-like C2-type 4.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		TGGGGTGAGACAGCAGGTAGG	0.592													G	54848149	C	G	54848149	2	3	245	1	0	0	0	0	0	0	0	1	8847	465	17	4		4	LILRA4	19	54848149	Silent	SNP	C	TCGA-41-2575-01A-01D-1495-08	18637421	54848149	4280834	72	17113											
ZIM3	114026	broad.mit.edu	37	chr19	57646590	57646590	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggtttttcttctggataAaggtatttccacatagatca	11	16	8	6	0	3	2	1	1	2	1	4	3	4	3	1	3	0	2	1	3	4	7			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr19:57646590A>T	uc002qnz.1	-	4	1501	c.1115T>A	c.(1114-1116)tTt>tAt	p.F372Y		NM_052882	NP_443114	Q96PE6	ZIM3_HUMAN	Homo sapiens zinc finger, imprinted 3 (ZIM3), mRNA.	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(27)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	52		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.243)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTTCTGGATAAAGGTATTTCC	0.378													T	57646590	A	T	57646590	3	4	245	1	0	0	0	0	1	0	0	0	17786	14	1	5	307	5	ZIM3	19	57646590	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08	2798441	57646590	1482393	73	17114											
SEMG2	6406	broad.mit.edu	37	chr20	43836974	43836974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagccaaaaggcaaataaaAtatcataccaatcttcaagt	20	9	4	8	0	3	0	2	0	1	0	3	0	3	0	2	1	2	1	2	1	10	5			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr20:43836974A>G	uc010ggz.3	+						SEMG2_uc002xni.2_Missense_Mutation_p.I346V|SEMG2_uc002xnj.2_Missense_Mutation_p.I286V	NM_003008	NP_002999	Q02383	SEMG2_HUMAN	Homo sapiens semenogelin II (SEMG2), mRNA.						sexual reproduction	extracellular space|stored secretory granule	structural molecule activity			autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				GGCAAATAAAATATCATACCA	0.393													G	43836974	A	G	43836974	3	3	245	1	0	0	0	0	1	0	0	0	14138	101	4	3		3	SEMG2	20	43836974	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		43836974	19188546	74	17115											
UBASH3A	53347	broad.mit.edu	37	chr21	43846877	43846877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccagcagcagatgcagcgGggaatttcttccacaaacgg	12	6	12	11	2	1	1	0	0	1	1	2	2	2	2	2	3	6	3	2	3	2	2			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr21:43846877G>A	uc002zbe.3	+	7	1202	c.1118G>A	c.(1117-1119)gGg>gAg	p.G373E	UBASH3A_uc002zbf.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpe.3_Missense_Mutation_p.G335E|UBASH3A_uc010gpc.3_Non-coding_Transcript|UBASH3A_uc010gpd.3_Non-coding_Transcript	NM_018961	NP_061834	P57075	UBS3A_HUMAN	Homo sapiens ubiquitin associated and SH3 domain containing A (UBASH3A), transcript variant 1, mRNA.	373						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						AGATGCAGCGGGGAATTTCTT	0.473													A	43846877	G	A	43846877	3	1	245	1	0	0	0	0	1	0	0	0	16941	1232	43	2	1148	2	UBASH3A	21	43846877	Missense_Mutation	SNP	G	TCGA-41-2575-01A-01D-1495-08		43846877	4283018	75	17116											
GRAP2	9402	broad.mit.edu	37	chr22	40364194	40364194	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaccagcaccagccacAgcctccgcaatatgccccag	11	3	8	19	1	0	0	0	0	0	0	1	0	1	0	7	0	5	4	7	0	2	1			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chr22:40364194A>C	uc003ayh.2	+	5	871	c.608A>C	c.(607-609)cAg>cCg	p.Q203P	GRAP2_uc011aom.2_Missense_Mutation_p.Q177P|GRAP2_uc011aon.2_Missense_Mutation_p.Q137P|GRAP2_uc010gya.2_Missense_Mutation_p.Q203P|GRAP2_uc011aoo.2_Missense_Mutation_p.Q131P|GRAP2_uc011aop.2_Missense_Mutation_p.Q163P|GRAP2_uc011aoq.2_Missense_Mutation_p.Q90P|GRAP2_uc003ayj.2_Missense_Mutation_p.Q203P	NM_004810	NP_004801	O75791	GRAP2_HUMAN	Homo sapiens GRB2-related adaptor protein 2 (GRAP2), mRNA.	203					cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						caccagccacagcctccgcaa	0.617													C	40364194	A	C	40364194	3	2	245	1	0	0	0	0	1	0	0	0	6809	188	7	5	626	5	GRAP2	22	40364194	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		40364194	10940372	76	17117											
EIF2S3	1968	broad.mit.edu	37	chrX	24075581	24075581	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaaatccacagtcgtcaaAgctatttctggagttcatac	12	11	9	9	1	3	0	2	0	1	0	5	2	4	2	1	2	2	2	1	2	4	4			TCGA-41-2575-01A-01D-1495-08	TCGA-41-2575-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4943e80a-d098-49cd-8261-1d53d42f8223	82ac95da-c623-4483-b2bd-300548e31e13	g.chrX:24075581A>T	uc004dbc.3	+	2	198	c.177A>T	c.(175-177)aaA>aaT	p.K59N		NM_001415	NP_001406	P41091	IF2G_HUMAN	Homo sapiens eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa (EIF2S3), mRNA.	59						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						CAGTCGTCAAAGCTATTTCTG	0.328													T	24075581	A	T	24075581	3	4	245	1	0	0	0	0	1	0	0	0	5050	69	3	5	187	5	EIF2S3	23	24075581	Missense_Mutation	SNP	A	TCGA-41-2575-01A-01D-1495-08		24075581	131194979	77	17118											
UBE4B	10277	broad.mit.edu	37	chr1	10221285	10221285	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtctggagtctctgaagCgaatccatgaagtgcaggaa	14	8	12	7	1	2	2	0	2	2	0	4	5	3	4	1	2	2	1	1	2	5	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:10221285C>T	uc021ogc.1	+	23	3980	c.3292C>T	c.(3292-3294)Cga>Tga	p.R1098*	UBE4B_uc001aqs.4_Nonsense_Mutation_p.R1047*|UBE4B_uc001aqr.4_Nonsense_Mutation_p.R918*|UBE4B_uc010oai.2_Non-coding_Transcript|UBE4B_uc010oaj.2_Nonsense_Mutation_p.R502*	NM_001105562	NP_001099032	O95155	UBE4B_HUMAN	Homo sapiens ubiquitination factor E4B (UBE4B), transcript variant 1, mRNA.	1047					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding	p.R918*(1)		NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		GTCTCTGAAGCGAATCCATGA	0.493													T	10221285	C	T	10221285	4	4	246	1	0	0	0	0	0	1	0	0	16985	760	27	1	3229	1	UBE4B	1	10221285	Nonsense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		10221285	239029336	1	17119											
NGF	4803	broad.mit.edu	37	chr1	115828973	115828973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccttgatgtctgtggcGgtggtcttatccccaaccca	5	13	10	13	1	2	1	0	1	2	0	3	1	3	1	4	3	2	0	4	3	2	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:115828973G>A	uc021osd.1	-	0	444	c.444C>T	c.(442-444)acC>acT	p.T148T	NGF_uc001efu.1_Silent_p.T148T	NM_002506	NP_002497	P01138	NGF_HUMAN	Homo sapiens nerve growth factor (beta polypeptide) (NGF), mRNA.	148					activation of MAPKK activity|activation of phospholipase C activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of cell cycle|nerve growth factor processing|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|Golgi lumen	growth factor activity|nerve growth factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13	Lung SC(450;0.211)	all_cancers(81;1.07e-06)|all_epithelial(167;4.43e-06)|all_lung(203;2.86e-05)|Lung NSC(69;4.99e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	Clenbuterol(DB01407)	TGTCTGTGGCGGTGGTCTTAT	0.527													A	115828973	G	A	115828973	2	1	246	1	0	0	0	0	0	0	0	1	10471	1103	39	1		1	NGF	1	115828973	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	105607688	115828973	133421648	2	17120											
GJA8	2703	broad.mit.edu	37	chr1	147380211	147380211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggcacggccgcagagttCgtgtggggggatgagcaatc	7	8	17	9	3	0	2	0	1	0	1	2	3	0	3	1	5	1	4	1	5	1	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:147380211C>T	uc021ovm.1	+	0	129	c.129C>T	c.(127-129)ttC>ttT	p.F43F	GJA8_uc001epu.2_Silent_p.F43F	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	43					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CCGCAGAGTTCGTGTGGGGGG	0.592													T	147380211	C	T	147380211	2	4	246	1	0	0	0	0	0	0	0	1	6461	883	31	1		1	GJA8	1	147380211	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	31551238	147380211	101870410	3	17121											
RPTN	126638	broad.mit.edu	37	chr1	152128025	152128028	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtggaaactctggcctTgtctgtctgtctgaccatag																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152128025_152128028delTGTC	uc001ezs.1	-	2	1612_1615	c.1547_1550delGACA	c.(1546-1551)agacaafs	p.R516fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	516	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.5													-	152128028	TGTC	-	152128025	7	5	246	1	0	1	0	1	0	0	0	0	13755	1812	63	0	808	0	RPTN	1	152128025	Frame_Shift_Del	DEL	TGTC	TCGA-41-3392-01A-01D-1495-08	4747814	152128025	97122596	4	17122											
FLG	2312	broad.mit.edu	37	chr1	152278815	152278815	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgagtgcctggagccGtctcctgattgttcctcatt	5	13	10	13	1	2	2	1	2	1	0	4	4	3	3	5	1	2	1	5	1	0	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:152278815G>A	uc001ezu.1	-	2	8583	c.8547C>T	c.(8545-8547)gaC>gaT	p.D2849D		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	2849	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCTGGAGCCGTCTCCTGATT	0.567									Ichthyosis				A	152278815	G	A	152278815	2	1	246	1	0	0	0	0	0	0	0	1	5971	1136	40	1		1	FLG	1	152278815	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	150790	152278815	96971806	5	17123											
SPTA1	6708	broad.mit.edu	37	chr1	158604390	158604390	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccaaagcattcttttcAttgatccaagcttcctcttc	10	14	4	13	0	3	1	1	1	2	0	6	1	5	1	3	0	3	2	3	0	2	6			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:158604390A>C	uc001fst.1	-	38	5707	c.5508T>G	c.(5506-5508)aaT>aaG	p.N1836K		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1836			N -> S (in dbSNP:rs16830483).		actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CATTCTTTTCATTGATCCAAG	0.418													C	158604390	A	C	158604390	3	2	246	1	0	0	0	0	1	0	0	0	15212	214	8	5	1807	5	SPTA1	1	158604390	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	6325575	158604390	90646231	6	17124											
REN	5972	broad.mit.edu	37	chr1	204129738	204129738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgtccctgttgaatagcGgagggtgagttctgttccat	7	13	13	8	1	1	2	0	2	1	0	3	4	3	3	2	2	1	3	2	2	2	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:204129738G>A	uc001haq.2	-	3	486	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	148					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GTTGAATAGCGGAGGGTGAGT	0.562													A	204129738	G	A	204129738	3	1	246	1	0	0	0	0	1	0	0	0	13312	1116	39	1	806	1	REN	1	204129738	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	45525348	204129738	45120883	7	17125											
RASSF5	83593	broad.mit.edu	37	chr1	206760184	206760184	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctccatccctgaactTcagaacttcctaacaatcct	10	12	3	16	0	2	2	1	1	1	1	6	2	5	2	5	0	3	0	5	0	4	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:206760184T>G	uc001hed.3	+	5	1188	c.1131T>G	c.(1129-1131)ctT>ctG	p.L377L	RASSF5_uc001hec.1_3'UTR|RASSF5_uc001hee.3_3'UTR|RASSF5_uc001hef.3_Silent_p.L224L|RASSF5_uc001heg.1_3'UTR|RASSF5_uc021pie.1_5'Flank	NM_182663	NP_872604	Q8WWW0	RASF5_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 5 (RASSF5), transcript variant 1, mRNA.	377	SARAH.				apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCCTGAACTTCAGAACTTCC	0.458													G	206760184	T	G	206760184	2	3	246	1	0	0	0	0	0	0	0	1	13177	1770	62	5		5	RASSF5	1	206760184	Silent	SNP	T	TCGA-41-3392-01A-01D-1495-08	2630446	206760184	42490437	8	17126											
IRF6	3664	broad.mit.edu	37	chr1	209963984	209963984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaatggcatgaccgctgaCctccaggatcagtcctctgt	10	10	9	12	1	2	2	1	2	1	0	4	3	4	3	4	2	0	2	4	2	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:209963984C>T	uc001hhq.2	-	6	1220	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	IRF6_uc010psm.2_Missense_Mutation_p.V211I	NM_006147	NP_001193625	O14896	IRF6_HUMAN	Homo sapiens interferon regulatory factor 6 (IRF6), transcript variant 1, mRNA.	306					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		TGACCGCTGACCTCCAGGATC	0.532										HNSCC(57;0.16)			T	209963984	C	T	209963984	3	4	246	1	0	0	0	0	1	0	0	0	7892	507	18	2	499	2	IRF6	1	209963984	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	3203800	209963984	39286637	9	17127											
OR2T12	127064	broad.mit.edu	37	chr1	248458187	248458187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaaggccttcttgcGggcttctgtagagcgcatga	7	10	15	9	2	2	2	0	1	2	1	2	2	2	2	1	4	2	4	1	4	2	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr1:248458187G>A	uc010pzj.2	-	0	694	c.694C>T	c.(694-696)Cgc>Tgc	p.R232C		NM_001004692	NP_001004692	Q8NG77	O2T12_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 12 (OR2T12), mRNA.	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCCTTCTTGCGGGCTTCTGTA	0.522													A	248458187	G	A	248458187	3	1	246	1	0	0	0	0	1	0	0	0	11095	1116	39	1	271	1	OR2T12	1	248458187	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	38494203	248458187	792434	10	17128											
NBAS	51594	broad.mit.edu	37	chr2	15615941	15615941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaagcaccagagcatcgaGctaaagtcactgcactgtct	13	9	8	11	1	2	1	1	0	1	1	3	2	2	1	1	0	4	4	1	0	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:15615941G>A	uc002rcc.1	-	13	1237	c.1211C>T	c.(1210-1212)gCt>gTt	p.A404V	NBAS_uc002rcd.1_Non-coding_Transcript	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN	Homo sapiens neuroblastoma amplified sequence (NBAS), mRNA.	404										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AGAGCATCGAGCTAAAGTCAC	0.398													A	15615941	G	A	15615941	3	1	246	1	0	0	0	0	1	0	0	0	10262	971	34	2	6060	2	NBAS	2	15615941	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		15615941	227583432	11	17129											
WDR92	116143	broad.mit.edu	37	chr2	68358402	68358402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctttgtaacgatcagtaCtctcaccgtttggtcaaatg	10	13	9	9	2	3	0	3	0	1	0	4	2	3	0	1	1	3	4	1	1	3	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:68358402C>G	uc002see.1	-	7	1123	c.1042G>C	c.(1042-1044)Gta>Cta	p.V348L	WDR92_uc002sed.1_Intron	NM_138458	NP_612467	Q96MX6	WDR92_HUMAN	Homo sapiens WD repeat domain 92 (WDR92), mRNA.	348					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						ACGATCAGTACTCTCACCGTT	0.478													G	68358402	C	G	68358402	3	3	246	1	0	0	0	0	1	0	0	0	17441	565	20	4	35	4	WDR92	2	68358402	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	52742461	68358402	174840971	12	17130											
TTC31	64427	broad.mit.edu	37	chr2	74710499	74710499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcgctgctgcacccaaaCtttgcaaggaattcggtcca	10	9	10	12	2	0	0	0	0	0	0	3	1	1	1	2	3	4	4	2	3	3	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:74710499C>T	uc002slt.2	+	1	114	c.91C>T	c.(91-93)Ctt>Ttt	p.L31F	TTC31_uc002sls.2_5'UTR|TTC31_uc002slu.2_5'UTR|CCDC142_uc002slo.3_5'Flank|CCDC142_uc002slq.3_5'Flank|CCDC142_uc002slr.3_5'Flank|CCDC142_uc002slp.2_5'Flank	NM_022492	NP_071937	Q49AM3	TTC31_HUMAN	Homo sapiens tetratricopeptide repeat domain 31 (TTC31), transcript variant 1, mRNA.	31							binding			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						TGCACCCAAACTTTGCAAGGA	0.582											OREG0014719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74710499	C	T	74710499	3	4	246	1	0	0	0	0	1	0	0	0	16802	565	20	2	97	2	TTC31	2	74710499	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	6352097	74710499	168488874	13	17131											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135890504	135890504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgagaaaccattagatGgaactacttcaacagataat	16	12	6	7	0	2	3	1	1	1	3	2	5	2	4	1	1	4	0	1	1	6	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:135890504G>C	uc010fnf.3	+	13	1319	c.1276G>C	c.(1276-1278)Gga>Cga	p.G426R	RAB3GAP1_uc002tuj.3_Missense_Mutation_p.G426R|RAB3GAP1_uc010fng.3_Missense_Mutation_p.G251R|RAB3GAP1_uc010fnh.1_Non-coding_Transcript	NM_001172435	NP_001165906	Q15042	RB3GP_HUMAN	Homo sapiens RAB3 GTPase activating protein subunit 1 (catalytic) (RAB3GAP1), transcript variant 1, mRNA.	426						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		ACCATTAGATGGAACTACTTC	0.308													C	135890504	G	C	135890504	3	2	246	1	0	0	0	0	1	0	0	0	13023	1349	47	4	1330	4	RAB3GAP1	2	135890504	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	61180005	135890504	107308869	14	17132											
NEB	4703	broad.mit.edu	37	chr2	152580858	152580858	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacttatccttggtgtcttcCcagttctgcttgtataaaac	8	17	6	10	0	2	0	0	0	2	0	4	0	4	0	2	1	3	3	2	1	5	8			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:152580858C>T	uc021vrb.1	-	5	557	c.528G>A	c.(526-528)tgG>tgA	p.W176*	NEB_uc002txu.3_Nonsense_Mutation_p.W176*|NEB_uc021vrc.1_Nonsense_Mutation_p.W176*|NEB_uc010fnx.3_Nonsense_Mutation_p.W176*|NEB_uc021vrd.1_Nonsense_Mutation_p.W176*	NM_004543	NP_004534	P20929	NEBU_HUMAN	Homo sapiens nebulin (NEB), transcript variant 3, mRNA.	176					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGTGTCTTCCCAGTTCTGCT	0.493													T	152580858	C	T	152580858	4	4	246	1	0	0	0	0	0	1	0	0	10378	624	22	2	25858	2	NEB	2	152580858	Nonsense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	16690354	152580858	90618515	15	17133											
TTN	7273	broad.mit.edu	37	chr2	179610717	179610717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatatttcagaatctccCatggtgaggaatccccgaca	13	9	8	11	1	2	2	1	1	1	1	4	4	3	3	3	2	0	1	3	2	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:179610717C>T	uc021vsy.1	-						TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Intron|TTN_uc021vtc.1_Non-coding_Transcript|TTN_uc002unb.2_Missense_Mutation_p.M5470I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAATCTCCCATGGTGAGGA	0.398													T	179610717	C	T	179610717	3	4	246	1	0	0	0	0	1	0	0	0	16837	594	21	2	93887	2	TTN	2	179610717	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	27029859	179610717	63588656	16	17134											
C2orf83	56918	broad.mit.edu	37	chr2	228476292	228476292	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggcccgcagggtgaaTgaaggtcagcccgcatgtct	8	7	14	12	2	2	2	1	2	1	0	2	2	2	2	3	3	1	2	3	3	2	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr2:228476292T>A	uc002vph.3	-	2	506	c.271A>T	c.(271-273)Att>Ttt	p.I91F	C2orf83_uc010zlu.2_3'UTR	NM_020161	NP_064546	Q53S99	CB083_HUMAN	Homo sapiens chromosome 2 open reading frame 83 (C2orf83), transcript variant 1, mRNA.	91						membrane	folic acid binding|reduced folate carrier activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|stomach(2)	11						GCAGGGTGAATGAAGGTCAGC	0.517													A	228476292	T	A	228476292	3	1	246	1	0	0	0	0	1	0	0	0	2219	1464	51	5	185	5	C2orf83	2	228476292	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08	48865575	228476292	14723081	17	17135											
TADA3	10474	broad.mit.edu	37	chr3	9825867	9825867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattagctcctccttgatGcggctctccagggacttagt	7	12	10	12	1	1	1	0	1	1	0	4	2	3	2	3	2	2	3	3	2	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:9825867G>A	uc003bsx.1	-	7	1499	c.951C>T	c.(949-951)cgC>cgT	p.R317R	TADA3_uc010hcn.1_Silent_p.R317R|TADA3_uc003bsy.3_Silent_p.R317R|TADA3_uc003bsw.1_Silent_p.R146R	NM_006354	NP_006345	O75528	TADA3_HUMAN	Homo sapiens transcriptional adaptor 3 (TADA3), transcript variant 1, mRNA.	317					estrogen receptor signaling pathway|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	ligand-dependent nuclear receptor binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16						CCTCCTTGATGCGGCTCTCCA	0.622													A	9825867	G	A	9825867	2	1	246	1	0	0	0	0	0	0	0	1	15609	1306	46	2		2	TADA3	3	9825867	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08		9825867	188196563	18	17136											
PLCL2	23228	broad.mit.edu	37	chr3	17052411	17052411	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttagaaaaccactgttccAttaaacaacagaaggtaatg	17	10	7	7	0	0	2	0	0	0	2	1	2	1	2	2	1	3	3	2	1	8	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:17052411A>T	uc011awc.2	+	2	1645	c.1549A>T	c.(1549-1551)Att>Ttt	p.I517F	PLCL2_uc010het.1_Missense_Mutation_p.H126L|PLCL2_uc011awd.2_Missense_Mutation_p.I399F	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	525	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCACTGTTCCATTAAACAACA	0.373													T	17052411	A	T	17052411	3	4	246	1	0	0	0	0	1	0	0	0	12117	217	8	5	1573	5	PLCL2	3	17052411	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	7226544	17052411	180970019	19	17137											
SEC22C	9117	broad.mit.edu	37	chr3	42602655	42602655	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattcatcaccccatttgcCacatctgtgtcctccagagt	8	12	5	16	0	3	1	2	0	1	1	5	1	5	1	6	0	1	0	6	0	0	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:42602655C>G	uc003clj.3	-	3	690	c.480G>C	c.(478-480)gtG>gtC	p.V160V	SEC22C_uc003clh.3_Silent_p.V160V|SEC22C_uc010hic.3_Silent_p.V160V|SEC22C_uc011azo.2_Silent_p.V90V|SEC22C_uc003cli.3_Silent_p.V160V	NM_032970	NP_116752	Q9BRL7	SC22C_HUMAN	Homo sapiens SEC22 vesicle trafficking protein homolog C (S. cerevisiae) (SEC22C), transcript variant 1, mRNA.	160					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		CCCCATTTGCCACATCTGTGT	0.468													G	42602655	C	G	42602655	2	3	246	1	0	0	0	0	0	0	0	1	14083	581	21	4		4	SEC22C	3	42602655	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	25550244	42602655	155419775	20	17138											
ARIH2	10425	broad.mit.edu	37	chr3	48965232	48965232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagcacatgaccagcttaGcttctgtcctaaaggtgagc	11	10	10	10	0	1	3	0	3	1	0	2	3	2	3	2	1	4	3	2	1	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:48965232G>T	uc003cvb.3	+	2	553	c.241G>T	c.(241-243)Gct>Tct	p.A81S	ARIH2_uc003cvc.3_Missense_Mutation_p.A81S|ARIH2_uc003cvf.3_5'UTR|ARIH2_uc010hkl.3_Missense_Mutation_p.A81S|ARIH2_uc003cvd.1_Missense_Mutation_p.A81S|ARIH2_uc003cve.1_Missense_Mutation_p.A81S	NM_006321	NP_006312	O95376	ARI2_HUMAN	Homo sapiens ariadne homolog 2 (Drosophila) (ARIH2), mRNA.	81					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		GACCAGCTTAGCTTCTGTCCT	0.483													T	48965232	G	T	48965232	3	4	246	1	0	0	0	0	1	0	0	0	927	971	34	4	243	4	ARIH2	3	48965232	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	6362577	48965232	149057198	21	17139											
ROBO2	6092	broad.mit.edu	37	chr3	77147196	77147196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggaggactttcccccGcggattgtggagcatccttc	6	9	12	14	3	0	0	0	0	0	0	3	4	2	4	4	4	1	1	4	4	0	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:77147196G>A	uc011bgk.2	+	1	736	c.93G>A	c.(91-93)ccG>ccA	p.P31P	ROBO2_uc021xat.1_Silent_p.P47P|ROBO2_uc003dpy.4_Silent_p.P31P|ROBO2_uc003dpz.3_Silent_p.P31P|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	31	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTTTCCCCCGCGGATTGTGG	0.537													A	77147196	G	A	77147196	2	1	246	1	0	0	0	0	0	0	0	1	13605	1087	38	1		1	ROBO2	3	77147196	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	28181964	77147196	120875234	22	17140											
ADCY5	111	broad.mit.edu	37	chr3	123036910	123036910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagatgaagaggaagaCgagcgaggcacacgccacat	17	2	13	9	3	0	4	0	1	0	3	0	7	0	5	1	2	2	2	1	2	3	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:123036910C>T	uc003egh.2	-	10	2311	c.2311G>A	c.(2311-2313)Gtc>Atc	p.V771I	ADCY5_uc021xdd.1_Missense_Mutation_p.V421I|ADCY5_uc003egg.2_Missense_Mutation_p.V404I|ADCY5_uc003egi.1_Missense_Mutation_p.V330I	NM_183357	NP_899200	O95622	ADCY5_HUMAN	Homo sapiens adenylate cyclase 5 (ADCY5), transcript variant 1, mRNA.	771					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGAGGAAGACGAGCGAGGCA	0.602													T	123036910	C	T	123036910	3	4	246	1	0	0	0	0	1	0	0	0	297	536	19	1	1518	1	ADCY5	3	123036910	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	45889714	123036910	74985520	23	17141											
TNFSF10	8743	broad.mit.edu	37	chr3	172241153	172241153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtcccaggctgggtccccCctggacctccatcatagcca	6	8	9	18	0	1	0	1	0	0	0	4	1	4	1	7	3	1	1	7	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:172241153C>A	uc003fid.3	-	0	145	c.22G>T	c.(22-24)Ggg>Tgg	p.G8W	TNFSF10_uc021xhk.1_Non-coding_Transcript|TNFSF10_uc003fie.3_Missense_Mutation_p.G8W|TNFSF10_uc010hwu.2_Missense_Mutation_p.G8W	NM_003810	NP_003801	P50591	TNF10_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 10 (TNFSF10), transcript variant 1, mRNA.	8					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane|soluble fraction	cytokine activity|metal ion binding|tumor necrosis factor receptor binding			breast(2)|cervix(1)|large_intestine(1)|lung(6)|ovary(1)|skin(4)	15	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.67e-15)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)|STAD - Stomach adenocarcinoma(35;0.235)			CTGGGTCCCCCCTGGACCTCC	0.527													A	172241153	C	A	172241153	3	1	246	1	0	0	0	0	1	0	0	0	16401	623	22	4	843	4	TNFSF10	3	172241153	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	49204243	172241153	25781277	24	17142											
MUC4	4585	broad.mit.edu	37	chr3	195516064	195516064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgcccgctgaggtggttCgtgaccctgaggaggccggt	4	9	17	11	3	0	3	0	3	0	0	1	4	0	4	3	5	1	2	3	5	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr3:195516064C>T	uc021xjp.1	-	1	2543	c.2387G>A	c.(2386-2388)cGa>cAa	p.R796Q	MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron|MUC4_uc021xjq.1_Missense_Mutation_p.R678Q	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	801	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.R796Q(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGAGGTGGTTCGTGACCCTGA	0.602													T	195516064	C	T	195516064	3	4	246	1	0	0	0	0	1	0	0	0	10054	884	31	1		1	MUC4	3	195516064	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	23274911	195516064	2506366	25	17143											
SH3TC1	54436	broad.mit.edu	37	chr4	8233729	8233729	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggccgtccagcggctgTgccacttctacagcgccgtc	4	8	13	16	5	1	0	0	0	1	0	3	0	2	0	4	2	5	1	4	2	1	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:8233729T>A	uc003gkv.4	+	12	3078	c.2977T>A	c.(2977-2979)Tgc>Agc	p.C993S	SH3TC1_uc003gkw.4_Missense_Mutation_p.C917S|SH3TC1_uc003gkx.4_Non-coding_Transcript|SH3TC1_uc003gky.3_Non-coding_Transcript	NM_018986	NP_061859	Q8TE82	S3TC1_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 1 (SH3TC1), mRNA.	993							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCAGCGGCTGTGCCACTTCTA	0.642													A	8233729	T	A	8233729	3	1	246	1	0	0	0	0	1	0	0	0	14355	1696	59	5	3023	5	SH3TC1	4	8233729	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08		8233729	182920547	26	17144											
CPEB2	132864	broad.mit.edu	37	chr4	15060838	15060838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgtccttggaatttaagtGatagtgattttgtaatggat	11	17	10	3	1	0	2	0	2	0	0	1	4	1	4	1	2	1	1	1	2	5	8			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:15060838G>A	uc003gnk.2	+	9	2608	c.2608G>A	c.(2608-2610)Gat>Aat	p.D870N	CPEB2_uc003gnl.2_Missense_Mutation_p.D843N|CPEB2_uc003gnm.2_Missense_Mutation_p.D840N|CPEB2_uc003gni.2_Missense_Mutation_p.D862N|CPEB2_uc003gnn.2_Missense_Mutation_p.D835N|CPEB2_uc003gnj.2_Missense_Mutation_p.D832N	NM_001177382	NP_001170853	Q7Z5Q1	CPEB2_HUMAN	Homo sapiens cytoplasmic polyadenylation element binding protein 2 (CPEB2), transcript variant D, mRNA.	425					regulation of translation	cytoplasm	nucleotide binding|RNA binding	p.D425H(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						GAATTTAAGTGATAGTGATTT	0.373													A	15060838	G	A	15060838	3	1	246	1	0	0	0	0	1	0	0	0	3832	1290	45	2	2655	2	CPEB2	4	15060838	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	6827109	15060838	176093438	27	17145											
GABRA4	2557	broad.mit.edu	37	chr4	46979123	46979123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgaccatccatgggaaaatCcaccaatctcatgggacact	14	8	7	12	0	1	1	1	1	1	0	4	3	3	3	4	2	0	0	4	2	3	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:46979123C>T	uc003gxg.3	-	4	1515	c.532G>A	c.(532-534)Gat>Aat	p.D178N	GABRA4_uc021xnz.1_Missense_Mutation_p.D159N|GABRA4_uc021xoa.1_Missense_Mutation_p.D159N	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	178					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.V177V(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATGGGAAAATCCACCAATCTC	0.333													T	46979123	C	T	46979123	3	4	246	1	0	0	0	0	1	0	0	0	6215	855	30	2	1152	2	GABRA4	4	46979123	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	31918285	46979123	144175153	28	17146											
SLC10A4	201780	broad.mit.edu	37	chr4	48490671	48490671	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtagtcagaatgtgcagctCtgtacagccattctaaaact	12	11	9	9	0	3	1	1	0	2	1	3	1	3	1	1	1	5	4	1	1	5	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr4:48490671C>T	uc003gyc.2	+	2	1248	c.1029C>T	c.(1027-1029)ctC>ctT	p.L343L	ZAR1_uc003gyd.3_5'Flank	NM_152679	NP_689892	Q96EP9	NTCP4_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 4 (SLC10A4), mRNA.	343						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						ATGTGCAGCTCTGTACAGCCA	0.473													T	48490671	C	T	48490671	2	4	246	1	0	0	0	0	0	0	0	1	14470	900	32	2		2	SLC10A4	4	48490671	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	1511548	48490671	142663605	29	17147											
DNAH5	1767	broad.mit.edu	37	chr5	13886073	13886073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattaccccatctcttacCtgaactttcatttttgtaat	9	19	2	11	0	3	1	2	1	1	0	4	1	3	1	3	0	3	1	3	0	4	7			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:13886073C>T	uc003jfd.2	-	18	2785	c.2743_splice	c.e18+1	p.A915_splice		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	915	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CATCTCTTACCTGAACTTTCA	0.289									Kartagener syndrome				T	13886073	C	T	13886073	3	4	246	1	0	0	0	0	1	0	0	0	4643	695	24	2	11379	2	DNAH5	5	13886073	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		13886073	167029187	30	17148											
CD14	929	broad.mit.edu	37	chr5	140012230	140012230	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgaggcgggagtacgcTagcacacgcagggcgcctac	8	6	14	13	4	0	1	0	1	0	0	1	2	1	2	2	3	3	4	2	3	3	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140012230T>A	uc003lgi.2	-	1	718	c.339A>T	c.(337-339)ctA>ctT	p.L113L	CD14_uc003lgj.2_Silent_p.L113L|CD14_uc021yej.1_Silent_p.L113L|CD14_uc021yek.1_Silent_p.L113L|CD14_uc021yel.1_5'UTR	NM_000591	NP_001167576	P08571	CD14_HUMAN	Homo sapiens CD14 molecule (CD14), transcript variant 1, mRNA.	113					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGAGTACGCTAGCACACGCA	0.622													A	140012230	T	A	140012230	2	1	246	1	0	0	0	0	0	0	0	1	2994	1509	53	5		5	CD14	5	140012230	Silent	SNP	T	TCGA-41-3392-01A-01D-1495-08	126126157	140012230	40903030	31	17149											
PCDHAC2	56147	broad.mit.edu	37	chr5	140166089	140166089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggcgtccaaaacacacAgggaccttctggaggtaaat	12	7	13	9	1	1	0	0	0	1	0	2	2	2	2	2	5	1	1	2	5	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140166089A>G	uc003lhb.2	+	0	214	c.214A>G	c.(214-216)Agg>Ggg	p.R72G	PCDHAC2_uc003lha.2_Missense_Mutation_p.R72G|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R72G	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	87	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAACACACAGGGACCTTCT	0.592													G	140166089	A	G	140166089	3	3	246	1	0	0	0	0	1	0	0	0	11609	179	7	3		3	PCDHAC2	5	140166089	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	153859	140166089	40749171	32	17150											
PCDHAC2	56136	broad.mit.edu	37	chr5	140263838	140263838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccgcgctgacggccaCggcaacggtgctgttgtcgc	5	7	15	14	6	0	2	0	2	0	0	1	2	0	2	2	3	3	4	2	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:140263838C>T	uc003lif.2	+	0	1985	c.1985C>T	c.(1984-1986)aCg>aTg	p.T662M	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.T662M|PCDHAC2_uc003lid.3_Missense_Mutation_p.T662M	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	673	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T662M(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGACGGCCACGGCAACGGTG	0.701													T	140263838	C	T	140263838	3	4	246	1	0	0	0	0	1	0	0	0	11609	536	19	1		1	PCDHAC2	5	140263838	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	97749	140263838	40651422	33	17151											
ODZ2	57451	broad.mit.edu	37	chr5	167420177	167420177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggctattttgctggcGtatttcataggtaagtcagg	7	16	11	7	1	3	0	2	0	1	0	3	0	3	0	0	4	1	4	0	4	4	8			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:167420177G>A	uc010jjd.3	+	4	1176	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	ODZ2_uc021yhi.1_Silent_p.A322A|ODZ2_uc003lzq.2_Silent_p.A271A|ODZ2_uc003lzr.4_Silent_p.A201A	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		TTTTGCTGGCGTATTTCATAG	0.537													A	167420177	G	A	167420177	2	1	246	1	0	0	0	0	0	0	0	1	10911	1132	40	1		1	ODZ2	5	167420177	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	27156339	167420177	13495083	34	17152											
SLIT3	6586	broad.mit.edu	37	chr5	168149967	168149967	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgagacatgttactgaaGgtgtaattggtcagcatgct	11	12	13	5	0	1	2	1	2	0	1	1	3	1	2	0	3	3	4	0	3	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr5:168149967G>T	uc010jjg.3	-	21	2802	c.2382C>A	c.(2380-2382)acC>acA	p.T794T	SLIT3_uc003mab.3_Silent_p.T794T	NM_003062	NP_003053	O75094	SLIT3_HUMAN	Homo sapiens slit homolog 3 (Drosophila) (SLIT3), mRNA.	794					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTTACTGAAGGTGTAATTGG	0.478													T	168149967	G	T	168149967	2	4	246	1	0	0	0	0	0	0	0	1	14835	987	35	4		4	SLIT3	5	168149967	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	729790	168149967	12765293	35	17153											
MAS1L	116511	broad.mit.edu	37	chr6	29455303	29455303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtaagaaccccactgccGagcagcaaagatagatcacg	14	5	9	13	2	1	3	1	0	0	3	1	4	1	3	4	0	4	3	4	0	4	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:29455303G>A	uc011dlq.2	-	0	377	c.377C>T	c.(376-378)tCg>tTg	p.S126L		NM_052967	NP_443199	P35410	MAS1L_HUMAN	Homo sapiens MAS1 oncogene-like (MAS1L), mRNA.	126						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCCCACTGCCGAGCAGCAAAG	0.502													A	29455303	G	A	29455303	3	1	246	1	0	0	0	0	1	0	0	0	9396	1059	37	1	761	1	MAS1L	6	29455303	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		29455303	141659764	36	17154											
SKIV2L	6499	broad.mit.edu	37	chr6	31937127	31937127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtggcctgaaccagaCggtggaggaatttgtggggg	7	9	19	6	1	0	2	0	1	0	1	0	4	0	4	2	7	1	1	2	7	2	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:31937127C>T	uc003nyn.1	+	26	3859	c.3470C>T	c.(3469-3471)aCg>aTg	p.T1157M	SKIV2L_uc011dou.1_Missense_Mutation_p.T999M|SKIV2L_uc011dov.1_Missense_Mutation_p.T964M|STK19_uc003nyt.3_5'Flank|STK19_uc011dow.2_5'Flank|STK19_uc011dox.1_5'Flank|STK19_uc003nyv.3_5'Flank|STK19_uc003nyw.3_5'Flank|STK19_uc010jtn.1_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1157						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTGAACCAGACGGTGGAGGAA	0.557													T	31937127	C	T	31937127	3	4	246	1	0	0	0	0	1	0	0	0	14453	536	19	1	3576	1	SKIV2L	6	31937127	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2481824	31937127	139177940	37	17155											
NOTCH4	4855	broad.mit.edu	37	chr6	32165183	32165183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaaggaggcggcgggcagCggttggccgggagaatcggg	7	4	21	9	5	1	1	1	0	0	1	2	3	1	2	1	8	1	2	1	8	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:32165183C>T	uc003obb.3	-	26	5084	c.4945G>A	c.(4945-4947)Gct>Act	p.A1649T	GPSM3_uc003oaz.3_5'Flank|NOTCH4_uc011dpt.2_Missense_Mutation_p.A58T|NOTCH4_uc003oba.3_Missense_Mutation_p.A309T|NOTCH4_uc011dpu.2_Non-coding_Transcript|NOTCH4_uc011dpv.2_Non-coding_Transcript|NOTCH4_uc011dpw.1_Missense_Mutation_p.A58T	NM_004557	NP_004548	Q99466	NOTC4_HUMAN	Homo sapiens notch 4 (NOTCH4), mRNA.	1649					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGCGGGCAGCGGTTGGCCGG	0.697													T	32165183	C	T	32165183	3	4	246	1	0	0	0	0	1	0	0	0	10627	768	27	1	1082	1	NOTCH4	6	32165183	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	228056	32165183	138949884	38	17156											
CD164	8763	broad.mit.edu	37	chr6	109690088	109690088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttcgttctttagatttgCagaatttataaagaaagaaa	17	15	6	3	1	1	4	0	0	1	4	2	4	1	4	0	0	1	2	0	0	8	8			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:109690088C>A	uc003pte.3	-	5	741	c.560G>T	c.(559-561)tGc>tTc	p.C187F	CD164_uc003ptd.3_Intron|CD164_uc003ptf.3_Missense_Mutation_p.C168F|CD164_uc011eap.2_Intron|CD164_uc010kdn.3_Missense_Mutation_p.C174F	NM_006016	NP_006007	Q04900	MUC24_HUMAN	Homo sapiens CD164 molecule, sialomucin (CD164), transcript variant 1, mRNA.	187					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		TTTAGATTTGCAGAATTTATA	0.383													A	109690088	C	A	109690088	3	1	246	1	0	0	0	0	1	0	0	0	2999	710	25	4	88	4	CD164	6	109690088	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	77524905	109690088	61424979	39	17157											
ROS1	6098	broad.mit.edu	37	chr6	117686282	117686282	+	Frame_Shift_Del	DEL	G	G	-																															cctttccccagtaggtataaGgagtgacagaaagattaaat																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr6:117686282delG	uc003pxp.1	-	19	3258	c.3059delC	c.(3058-3060)cctfs	p.P1020fs	ROS1_uc011ebi.1_Non-coding_Transcript|ROS1_uc003pxq.1_Intron	NM_002944	NP_002935	P08922	ROS_HUMAN	Homo sapiens c-ros oncogene 1 , receptor tyrosine kinase (ROS1), mRNA.	1020	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTAGGTATAAGGAGTGACAGA	0.393			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								-	117686282	G	-	117686282	7	5	246	1	0	1	0	1	0	0	0	0	13622	1000	35	0	4080	0	ROS1	6	117686282	Frame_Shift_Del	DEL	G	TCGA-41-3392-01A-01D-1495-08	7996194	117686282	53428785	40	17158											
LFNG	3955	broad.mit.edu	37	chr7	2559902	2559902	+	Frame_Shift_Del	DEL	C	C	-																															cctcgacctgctgctggagaCctggatctcgcgccacaagg																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:2559902delC	uc003smf.3	+	0	424	c.407delC	c.(406-408)accfs	p.T136fs	LFNG_uc021zyw.1_Intron|LFNG_uc021zyx.1_Intron|LFNG_uc003smg.3_Frame_Shift_Del_p.T136fs	NM_001040167	NP_001035257	Q8NES3	LFNG_HUMAN	Homo sapiens LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase (LFNG), transcript variant 1, mRNA.	136					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CTGCTGGAGACCTGGATCTCG	0.706													-	2559902	C	-	2559902	7	5	246	1	0	1	0	1	0	0	0	0	8796	507	18	0	685	0	LFNG	7	2559902	Frame_Shift_Del	DEL	C	TCGA-41-3392-01A-01D-1495-08		2559902	156578761	41	17159											
DYNC1I1	1780	broad.mit.edu	37	chr7	95664970	95664970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaataagtccaagcctgtcGctgttaccggaatggctttc	10	11	9	11	2	0	0	0	0	0	0	3	1	1	1	3	2	2	3	3	2	5	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:95664970G>A	uc003uoc.4	+	12	1598	c.1321G>A	c.(1321-1323)Gct>Act	p.A441T	DYNC1I1_uc003uod.4_Missense_Mutation_p.A424T|DYNC1I1_uc003uob.3_Missense_Mutation_p.A404T|DYNC1I1_uc003uoe.4_Missense_Mutation_p.A421T|DYNC1I1_uc010lfl.3_Missense_Mutation_p.A430T	NM_004411	NP_004402	O14576	DC1I1_HUMAN	Homo sapiens dynein, cytoplasmic 1, intermediate chain 1 (DYNC1I1), transcript variant 1, mRNA.	441					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			CAAGCCTGTCGCTGTTACCGG	0.498													A	95664970	G	A	95664970	3	1	246	1	0	0	0	0	1	0	0	0	4881	1087	38	1	1367	1	DYNC1I1	7	95664970	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	93105068	95664970	63473693	42	17160											
RBM28	55131	broad.mit.edu	37	chr7	127964701	127964701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcatcacgggtcaccGccaagtcaaccttgagctgc	9	7	9	16	2	4	1	4	1	0	0	4	1	4	1	4	1	4	1	4	1	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:127964701G>A	uc003vmp.2	-	11	1365	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	RBM28_uc011koj.1_Missense_Mutation_p.A276V|RBM28_uc011kok.1_Missense_Mutation_p.A364V	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	417	RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.A417A(2)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACGGGTCACCGCCAAGTCAAC	0.552													A	127964701	G	A	127964701	3	1	246	1	0	0	0	0	1	0	0	0	13216	1087	38	1	1061	1	RBM28	7	127964701	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	32299731	127964701	31173962	43	17161											
AHCYL2	23382	broad.mit.edu	37	chr7	129040182	129040182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagatgacttttggtggtGtatcgatagatgtgtgaatg	11	14	14	2	1	0	5	0	2	0	3	1	6	0	5	0	2	0	1	0	2	4	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:129040182G>A	uc011kov.2	+	5	938	c.875G>A	c.(874-876)tGt>tAt	p.C292Y	AHCYL2_uc003vot.3_Missense_Mutation_p.C291Y|AHCYL2_uc003vov.3_Missense_Mutation_p.C189Y|AHCYL2_uc011kox.2_Missense_Mutation_p.C189Y	NM_015328	NP_056143	Q96HN2	SAHH3_HUMAN	Homo sapiens adenosylhomocysteinase-like 2 (AHCYL2), transcript variant 1, mRNA.	292					one-carbon metabolic process		adenosylhomocysteinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTTTGGTGGTGTATCGATAGA	0.463													A	129040182	G	A	129040182	3	1	246	1	0	0	0	0	1	0	0	0	411	1377	48	2	1019	2	AHCYL2	7	129040182	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	1075481	129040182	30098481	44	17162											
DPP6	1804	broad.mit.edu	37	chr7	154561187	154561187	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatggcacgagactcgcctAcgccgccatcaatgattccc	9	7	10	15	4	1	2	1	1	0	1	3	4	2	3	4	2	1	1	4	2	2	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr7:154561187A>G	uc003wlk.3	+	8	1073	c.944A>G	c.(943-945)tAc>tGc	p.Y315C	DPP6_uc003wli.3_Missense_Mutation_p.Y251C|DPP6_uc003wlm.3_Missense_Mutation_p.Y253C|DPP6_uc011kvq.2_Missense_Mutation_p.Y208C	NM_130797	NP_570629	P42658	DPP6_HUMAN	Homo sapiens dipeptidyl-peptidase 6 (DPP6), transcript variant 1, mRNA.	315					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			AGACTCGCCTACGCCGCCATC	0.527													G	154561187	A	G	154561187	3	3	246	1	0	0	0	0	1	0	0	0	4769	391	14	3	1094	3	DPP6	7	154561187	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	25521005	154561187	4577476	45	17163											
ZFAT	57623	broad.mit.edu	37	chr8	135622736	135622736	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattgcttcgtgtgcagttAaaaccacacttatgatgggt	11	13	10	7	1	0	1	0	1	0	0	1	2	0	1	1	1	3	3	1	1	4	4			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr8:135622736A>T	uc003yup.3	-	3	797	c.611T>A	c.(610-612)tTa>tAa	p.L204*	ZFAT_uc003yun.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yuo.3_Nonsense_Mutation_p.L192*|ZFAT_uc010meh.3_Nonsense_Mutation_p.L192*|ZFAT_uc010mej.3_Intron|ZFAT_uc010mei.3_Non-coding_Transcript|ZFAT_uc003yuq.3_Nonsense_Mutation_p.L192*|ZFAT_uc003yur.3_Nonsense_Mutation_p.L192*	NM_020863	NP_001161055	Q9P243	ZFAT_HUMAN	Homo sapiens zinc finger and AT hook domain containing (ZFAT), transcript variant 1, mRNA.	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GTGTGCAGTTAAAACCACACT	0.502													T	135622736	A	T	135622736	4	4	246	1	0	0	0	0	0	1	0	0	17733	372	13	5	3172	5	ZFAT	8	135622736	Nonsense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08		135622736	10741286	46	17164											
MORN5	254956	broad.mit.edu	37	chr9	124936831	124936831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatccccaagggctattacGattgtggagacggcttctat	11	11	10	9	2	1	1	0	0	1	1	2	3	2	1	2	3	1	2	2	3	5	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr9:124936831G>A	uc011lyn.2	+	3	426	c.364G>A	c.(364-366)Gat>Aat	p.D122N	MORN5_uc011lyo.1_Silent_p.T84T|MORN5_uc004blw.2_Missense_Mutation_p.D122N	NM_198469	NP_940871	Q5VZ52	MORN5_HUMAN	Homo sapiens MORN repeat containing 5 (MORN5), mRNA.	122								p.Y121Y(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						GGGCTATTACGATTGTGGAGA	0.463													A	124936831	G	A	124936831	3	1	246	1	0	0	0	0	1	0	0	0	9787	1058	37	1	378	1	MORN5	9	124936831	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		124936831	16276600	47	17165											
ADARB2	105	broad.mit.edu	37	chr10	1263025	1263025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttggtgcgcaggtgcccGcggaacttcctgacgaggtg	6	9	15	11	4	1	1	0	1	1	0	2	3	2	2	2	4	3	1	2	4	1	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:1263025G>A	uc009xhq.3	-	6	1874	c.1548C>T	c.(1546-1548)cgC>cgT	p.R516R		NM_018702	NP_061172	Q9NS39	RED2_HUMAN	Homo sapiens adenosine deaminase, RNA-specific, B2 (ADARB2), mRNA.	516	A to I editase.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCAGGTGCCCGCGGAACTTCC	0.657													A	1263025	G	A	1263025	2	1	246	1	0	0	0	0	0	0	0	1	283	1074	38	1		1	ADARB2	10	1263025	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08		1263025	134271722	48	17166											
HPSE2	60495	broad.mit.edu	37	chr10	100249866	100249866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcccggatcactcggccagGccgtggcttccgctggagcc	4	7	14	16	4	1	0	1	0	0	0	4	2	3	2	5	5	1	2	5	5	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr10:100249866G>T	uc001kpn.2	-	9	1481	c.1408C>A	c.(1408-1410)Cct>Act	p.P470T	HPSE2_uc009xwc.2_Missense_Mutation_p.P470T|HPSE2_uc001kpo.2_Missense_Mutation_p.P412T|HPSE2_uc009xwd.2_Missense_Mutation_p.P358T	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	470					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ACTCGGCCAGGCCGTGGCTTC	0.562													T	100249866	G	T	100249866	3	4	246	1	0	0	0	0	1	0	0	0	7400	1203	42	4	420	4	HPSE2	10	100249866	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	98986841	100249866	35284881	49	17167											
TPH1	7166	broad.mit.edu	37	chr11	18047154	18047154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacagcctcctctgaagCgccaagagaagccaagccaa	14	5	9	13	1	1	3	0	2	1	1	2	4	2	3	5	0	5	0	5	0	6	1	rs145855109	byFrequency	TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:18047154C>T	uc001mnp.2	-	6	924	c.898G>A	c.(898-900)Gct>Act	p.A300T	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	300					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TCCTCTGAAGCGCCAAGAGAA	0.438													T	18047154	C	T	18047154	3	4	246	1	0	0	0	0	1	0	0	0	16502	768	27	1	452	1	TPH1	11	18047154	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		18047154	116959362	50	17168											
OR5B17	219965	broad.mit.edu	37	chr11	58126152	58126152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtgttgtcatggtggtggTataatgtagggggttacaca	9	13	15	4	1	1	0	1	0	0	0	1	0	1	0	0	5	1	4	0	5	4	5			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:58126152T>C	uc010rke.2	-	0	391	c.391A>G	c.(391-393)Acc>Gcc	p.T131A		NM_001005489	NP_001005489	Q8NGF7	OR5BH_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 17 (OR5B17), mRNA.	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATGGTGGTGGTATAATGTAGG	0.448													C	58126152	T	C	58126152	3	2	246	1	0	0	0	0	1	0	0	0	11225	1638	57	3	555	3	OR5B17	11	58126152	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08	40078998	58126152	76880364	51	17169											
CD6	923	broad.mit.edu	37	chr11	60786743	60786743	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagggtcccccagccctcagCctgactccaccgacaacgat	9	5	8	19	2	1	1	1	1	0	0	3	3	3	1	6	1	3	0	6	1	1	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr11:60786743C>G	uc001nqq.3	+	12	2185	c.1960C>G	c.(1960-1962)Cct>Gct	p.P654A	CD6_uc001nqs.3_Non-coding_Transcript|CD6_uc001nqr.3_Missense_Mutation_p.P587A|CD6_uc001nqt.3_Missense_Mutation_p.P578A	NM_006725	NP_006716	P30203	CD6_HUMAN	Homo sapiens CD6 molecule (CD6), transcript variant 1, mRNA.	654					cell adhesion	cell surface|integral to plasma membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CAGCCCTCAGCCTGACTCCAC	0.657													G	60786743	C	G	60786743	3	3	246	1	0	0	0	0	1	0	0	0	3058	739	26	4	2010	4	CD6	11	60786743	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2660591	60786743	74219773	52	17170											
CALCOCO1	57658	broad.mit.edu	37	chr12	54117525	54117525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccctggcggttcacatatCggaactggtagagctgagct	8	9	14	10	2	1	2	1	1	0	1	2	3	1	3	1	5	3	4	1	5	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54117525C>T	uc001sef.3	-	3	446	c.302G>A	c.(301-303)cGa>cAa	p.R101Q	CALCOCO1_uc010som.2_Intron|CALCOCO1_uc010son.2_5'UTR|CALCOCO1_uc009znd.3_Missense_Mutation_p.R101Q|CALCOCO1_uc001seg.3_Intron|CALCOCO1_uc001seh.2_Missense_Mutation_p.R101Q|CALCOCO1_uc010soo.1_Missense_Mutation_p.R94Q	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	101	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						GTTCACATATCGGAACTGGTA	0.602													T	54117525	C	T	54117525	3	4	246	1	0	0	0	0	1	0	0	0	2603	884	31	1	1821	1	CALCOCO1	12	54117525	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		54117525	79734370	53	17171											
HOXC11	3227	broad.mit.edu	37	chr12	54369092	54369092	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctgtcccggatgctgaaCctgacggaccgacaagtgaa	11	6	12	12	3	0	3	0	3	0	0	1	6	1	5	3	2	3	2	3	2	3	0	rs141170619		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:54369092C>T	uc001sem.3	+	1	926	c.810C>T	c.(808-810)aaC>aaT	p.N270N		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	270					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						GGATGCTGAACCTGACGGACC	0.478			T	NUP98	AML								T	54369092	C	T	54369092	2	4	246	1	0	0	0	0	0	0	0	1	7365	506	18	2		2	HOXC11	12	54369092	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	251567	54369092	79482803	54	17172											
OR6C4	341418	broad.mit.edu	37	chr12	55945591	55945591	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacacaagcctcttagAactgatggtcatcctcttgg	10	11	8	12	0	4	3	2	1	2	2	5	3	5	3	2	2	2	0	2	2	3	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:55945591A>G	uc010spp.2	+	0	581	c.581A>G	c.(580-582)gAa>gGa	p.E194G		NM_001005494	NP_001005494	Q8NGE1	OR6C4_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 4 (OR6C4), mRNA.	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	11						AGCCTCTTAGAACTGATGGTC	0.468													G	55945591	A	G	55945591	3	3	246	1	0	0	0	0	1	0	0	0	11269	246	9	3	583	3	OR6C4	12	55945591	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	1576499	55945591	77906304	55	17173											
B4GALNT1	2583	broad.mit.edu	37	chr12	58020574	58020574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgaagaagagcagccGgtgtttggccatctggctct	7	12	14	8	1	2	3	0	1	2	2	2	3	2	3	2	3	2	4	2	3	2	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:58020574G>A	uc001spg.1	-	10	1987	c.1555C>T	c.(1555-1557)Cgg>Tgg	p.R519W	B4GALNT1_uc010sru.2_Missense_Mutation_p.R464W	NM_001478	NP_001469	Q00973	B4GN1_HUMAN	Homo sapiens beta-1,4-N-acetyl-galactosaminyl transferase 1 (B4GALNT1), mRNA.	519					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			AAGAGCAGCCGGTGTTTGGCC	0.597													A	58020574	G	A	58020574	3	1	246	1	0	0	0	0	1	0	0	0	1271	1115	39	1	50	1	B4GALNT1	12	58020574	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	2074983	58020574	75831321	56	17174											
PHLDA1	22822	broad.mit.edu	37	chr12	76424413	76424413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgcggatgcgggtgcGggtgagggtgtgggtgcgag	3	10	24	4	4	0	1	0	1	0	0	0	3	0	2	0	6	4	0	0	6	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:76424413G>A	uc001sxu.3	-	0	1144	c.1109C>T	c.(1108-1110)cCg>cTg	p.P370L	PHLDA1_uc021rax.1_Missense_Mutation_p.P370L	NM_007350	NP_031376	Q8WV24	PHLA1_HUMAN	Homo sapiens pleckstrin homology-like domain, family A, member 1 (PHLDA1), mRNA.	370	14 X 2 AA repeats of P-H.				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				atgcgggtgcgggtgagggtg	0.652													A	76424413	G	A	76424413	3	1	246	1	0	0	0	0	1	0	0	0	11925	1116	39	1	100	1	PHLDA1	12	76424413	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	18403839	76424413	57427482	57	17175											
ACACB	32	broad.mit.edu	37	chr12	109665288	109665288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgccgtcctcccaccCaaaccggtatggagtgggac	8	7	11	15	2	0	0	0	0	0	0	2	2	2	2	5	3	3	2	5	3	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:109665288C>A	uc001tob.3	+	27	4114	c.3995C>A	c.(3994-3996)cCa>cAa	p.P1332Q	ACACB_uc001toc.3_Missense_Mutation_p.P1332Q|ACACB_uc010sxl.1_5'Flank|ACACB_uc001tod.3_5'Flank|ACACB_uc010sxm.2_5'Flank	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1332					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCCTCCCACCCAAACCGGTAT	0.587													A	109665288	C	A	109665288	3	1	246	1	0	0	0	0	1	0	0	0	107	594	21	4	4101	4	ACACB	12	109665288	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	33240875	109665288	24186607	58	17176											
C12orf51	283450	broad.mit.edu	37	chr12	112620944	112620944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgatttactacagacaCggttagaatctcttctgttg	10	15	7	9	1	3	3	0	1	3	2	4	3	3	3	0	1	2	2	0	1	4	6			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr12:112620944C>G	uc021reb.1	-	61	10900	c.10504G>C	c.(10504-10506)Gtg>Ctg	p.V3502L		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						ACTACAGACACGGTTAGAATC	0.353													G	112620944	C	G	112620944	3	3	246	1	0	0	0	0	1	0	0	0	1709	536	19	4	2410	4	C12orf51	12	112620944	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	2955656	112620944	21230951	59	17177											
CLYBL	171425	broad.mit.edu	37	chr13	100425263	100425263	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtggctgcaaacaaaaAggtaatggcatgattttagt	14	11	12	4	0	0	1	0	1	0	0	0	2	0	2	0	4	2	4	0	4	5	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr13:100425263A>C	uc001vok.3	+	2	280	c.249_splice	c.e2+1	p.K83_splice	CLYBL_uc010tix.2_Splice_Site_p.K83_splice|CLYBL_uc010tiy.2_Splice_Site_p.K83_splice	NM_206808	NP_996531	Q8N0X4	CLYBL_HUMAN	Homo sapiens citrate lyase beta like (CLYBL), mRNA.	83					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GCAAACAAAAAGGTAATGGCA	0.383													C	100425263	A	C	100425263	3	2	246	1	0	0	0	0	1	0	0	0	3604	86	3	5	254	5	CLYBL	13	100425263	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08		100425263	14744615	60	17178											
OR11G2	390439	broad.mit.edu	37	chr14	20665689	20665689	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggaggggcagatcctcctCtttgtgctcttcactgttgt	5	14	12	10	0	3	1	1	0	2	1	5	2	5	2	2	3	1	3	2	3	0	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:20665689C>G	uc010tlb.2	+	0	195	c.195C>G	c.(193-195)ctC>ctG	p.L65L		NM_001005503	NP_001005503	Q8NGC1	O11G2_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily G, member 2 (OR11G2), mRNA.	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGATCCTCCTCTTTGTGCTCT	0.552													G	20665689	C	G	20665689	2	3	246	1	0	0	0	0	0	0	0	1	11001	900	32	4		4	OR11G2	14	20665689	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08		20665689	86683851	61	17179											
ESR2	2100	broad.mit.edu	37	chr14	64723980	64723980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggagcaaagatgagcttgCcggggtggtcaattgagcgc	9	8	16	8	2	1	3	1	2	0	1	1	4	1	4	1	4	4	2	1	4	2	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:64723980C>T	uc001xha.1	-	5	1523	c.1055G>A	c.(1054-1056)gGc>gAc	p.G352D	ESR2_uc001xgy.2_Missense_Mutation_p.G352D|ESR2_uc001xgu.3_Missense_Mutation_p.G352D|ESR2_uc001xgv.3_Missense_Mutation_p.G352D|ESR2_uc001xgw.3_Intron|ESR2_uc001xgx.3_Missense_Mutation_p.G352D|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Intron|ESR2_uc001xgz.2_Missense_Mutation_p.G352D|ESR2_uc010aqd.1_Non-coding_Transcript	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	352	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding	p.G352C(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GATGAGCTTGCCGGGGTGGTC	0.488													T	64723980	C	T	64723980	3	4	246	1	0	0	0	0	1	0	0	0	5298	739	26	2	639	2	ESR2	14	64723980	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	44058291	64723980	42625560	62	17180											
PLEKHH1	57475	broad.mit.edu	37	chr14	68035891	68035891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggccacatcgggcatgCggctctcagatatgtctccc	6	10	11	14	2	2	1	1	0	2	1	5	1	2	1	2	3	1	2	2	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:68035891C>T	uc001xjl.1	+	7	1442	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	PLEKHH1_uc010tsw.1_Missense_Mutation_p.R2W|PLEKHH1_uc001xjm.1_5'Flank|PLEKHH1_uc001xjn.1_5'Flank	NM_020715	NP_065766	Q9ULM0	PKHH1_HUMAN	Homo sapiens pleckstrin homology domain containing, family H (with MyTH4 domain) member 1 (PLEKHH1), mRNA.	434						cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		ATCGGGCATGCGGCTCTCAGA	0.592													T	68035891	C	T	68035891	3	4	246	1	0	0	0	0	1	0	0	0	12153	759	27	1	1326	1	PLEKHH1	14	68035891	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	3311911	68035891	39313649	63	17181											
ADAM20	8748	broad.mit.edu	37	chr14	70989515	70989515	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgcccattcatggttgcAgtgacagtgttgtttgttgt	5	16	14	6	0	1	1	1	1	0	0	1	1	1	1	1	2	2	5	1	2	0	5	rs113965969		TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:70989515A>T	uc021rvs.1	-	0	2110	c.2110T>A	c.(2110-2112)Tgc>Agc	p.C704S	ADAM20_uc001xme.3_Missense_Mutation_p.C704S	NM_003814	NP_003805	O43506	ADA20_HUMAN	Homo sapiens ADAM metallopeptidase domain 20 (ADAM20), mRNA.	654					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		TCATGGTTGCAGTGACAGTGT	0.483													T	70989515	A	T	70989515	3	4	246	1	0	0	0	0	1	0	0	0	242	188	7	5	224	5	ADAM20	14	70989515	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	2953624	70989515	36360025	64	17182											
ACOT4	122970	broad.mit.edu	37	chr14	74058995	74058995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagttggaggtgctggacgGccacgaccccgagcctggac	7	5	17	12	3	0	0	0	0	0	0	0	6	0	4	4	6	2	2	4	6	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr14:74058995G>A	uc001xoo.3	+	0	586	c.332G>A	c.(331-333)gGc>gAc	p.G111D		NM_152331	NP_689544	Q8N9L9	ACOT4_HUMAN	Homo sapiens acyl-CoA thioesterase 4 (ACOT4), mRNA.	111					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GTGCTGGACGGCCACGACCCC	0.682													A	74058995	G	A	74058995	3	1	246	1	0	0	0	0	1	0	0	0	153	1203	42	2	334	2	ACOT4	14	74058995	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	3069480	74058995	33290545	65	17183											
HERC2	8924	broad.mit.edu	37	chr15	28514552	28514553	+	Frame_Shift_Ins	INS	-	-	C																															tagtatttccatcctattaaINScccccaacctatgacctctt																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:28514552_28514553insC	uc001zbj.3	-	10	1393_1394	c.1287_1288insG	c.(1285-1290)gggttafs	p.G429fs	HERC2_uc001zbl.1_Frame_Shift_Ins_p.G124fs	NM_004667	NP_004658	O95714	HERC2_HUMAN	Homo sapiens hect domain and RLD 2 (HERC2), mRNA.	429					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATCCTATTAACCCCCAACCTA	0.436													C	28514553	-	C	28514552	7	5	246	1	0	1	1	0	0	0	0	0	7113	40	2	0	13548	0	HERC2	15	28514552	Frame_Shift_Ins	INS	-	TCGA-41-3392-01A-01D-1495-08		28514552	74016840	66	17184											
RASGRF1	5923	broad.mit.edu	37	chr15	79296158	79296158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcactctgcttgctgagcGctgaagggtcttcgggcttc	5	12	12	12	2	3	2	1	2	2	0	5	2	3	2	0	2	3	4	0	2	1	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr15:79296158G>A	uc002beq.3	-	15	2858	c.2483C>T	c.(2482-2484)gCg>gTg	p.A828V	RASGRF1_uc002bep.3_Missense_Mutation_p.A812V|RASGRF1_uc010blm.1_Missense_Mutation_p.A737V|RASGRF1_uc002ber.4_Missense_Mutation_p.A812V|RASGRF1_uc010unh.1_Missense_Mutation_p.A223V|RASGRF1_uc002beo.3_Missense_Mutation_p.A44V	NM_002891	NP_002882	Q13972	RGRF1_HUMAN	Homo sapiens Ras protein-specific guanine nucleotide-releasing factor 1 (RASGRF1), transcript variant 1, mRNA.	830					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.A828A(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTTGCTGAGCGCTGAAGGGTC	0.637													A	79296158	G	A	79296158	3	1	246	1	0	0	0	0	1	0	0	0	13160	1087	38	1	1390	1	RASGRF1	15	79296158	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	50781606	79296158	23235234	67	17185											
PHLPP2	23035	broad.mit.edu	37	chr16	71689260	71689260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgcgggagctcctcatttCggtctccatcaaacatgcca	8	9	10	14	3	3	0	2	0	1	0	6	1	4	1	3	3	3	1	3	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:71689260C>T	uc002fax.3	-	15	2474	c.2468G>A	c.(2467-2469)cGa>cAa	p.R823Q	PHLPP2_uc002fav.3_Non-coding_Transcript|PHLPP2_uc010cgf.3_Missense_Mutation_p.R756Q	NM_015020	NP_055835	Q6ZVD8	PHLP2_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 2 (PHLPP2), mRNA.	823	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	p.R823R(1)|p.R823*(1)		central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						CTCCTCATTTCGGTCTCCATC	0.483													T	71689260	C	T	71689260	3	4	246	1	0	0	0	0	1	0	0	0	11932	884	31	1	1515	1	PHLPP2	16	71689260	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		71689260	18665493	68	17186											
CDH15	1013	broad.mit.edu	37	chr16	89256722	89256722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggccccgctgcaggcGgctgcccttagggctgagcg	6	6	16	13	3	0	2	0	2	0	0	0	2	0	2	3	4	3	4	3	4	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr16:89256722G>A	uc002fmt.3	+	7	1127	c.1050G>A	c.(1048-1050)gcG>gcA	p.A350A		NM_004933	NP_004924	P55291	CAD15_HUMAN	Homo sapiens cadherin 15, type 1, M-cadherin (myotubule) (CDH15), mRNA.	350	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		CGCTGCAGGCGGCTGCCCTTA	0.637													A	89256722	G	A	89256722	2	1	246	1	0	0	0	0	0	0	0	1	3130	1103	39	1		1	CDH15	16	89256722	Silent	SNP	G	TCGA-41-3392-01A-01D-1495-08	17567462	89256722	1098031	69	17187											
NF1	4763	broad.mit.edu	37	chr17	29550520	29550543	+	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	ACAGAAATTCTCAAGTGGTTGCGG	-																															gtcatcaaatgcttagtagcAcagaaattctcaagtggttg																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:29550520_29550543delACAGAAATTCTCAAGTGGTTGCGG	uc002hgg.3	+	15	2163_2186	c.1780_1803delACAGAAATTCTCAAGTGGTTGCGG	c.(1780-1803)acagaaattctcaagtggttgcggdel	p.TEILKWLR594del	NF1_uc002hgh.3_In_Frame_Del_p.TEILKWLR594del|NF1_uc010csn.2_In_Frame_Del_p.TEILKWLR454del|NF1_uc002hgi.1_5'Flank	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	594					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.W599*(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GCTTAGTAGCACAGAAATTCTCAAGTGGTTGCGGGAAATATTGA	0.312			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29550543	ACAGAAATTCTCAAGTGGTTGCGG	-	29550520	7	5	246	1	0	1	0	1	0	0	0	0	10432	159	6	0	1903	0	NF1	17	29550520	In_Frame_Del	DEL	ACAGAAATTCTCAAGTGGTTGCGG	TCGA-41-3392-01A-01D-1495-08		29550520	51644690	70	17188											
CARD14	79092	broad.mit.edu	37	chr17	78157817	78157817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaggtgctgctgcggcGgtgccagcagctgcaggagc	7	5	19	10	2	0	0	0	0	0	0	0	3	0	2	1	5	8	5	1	5	1	0			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:78157817G>A	uc002jxw.1	+	3	649	c.455G>A	c.(454-456)cGg>cAg	p.R152Q	CARD14_uc002jxt.1_Non-coding_Transcript|CARD14_uc002jxv.3_Missense_Mutation_p.R152Q|CARD14_uc010wud.1_Non-coding_Transcript	NM_024110	NP_077015	Q9BXL6	CAR14_HUMAN	Homo sapiens caspase recruitment domain family, member 14 (CARD14), transcript variant 1, mRNA.	152					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CTGCTGCGGCGGTGCCAGCAG	0.667													A	78157817	G	A	78157817	3	1	246	1	0	0	0	0	1	0	0	0	2672	1116	39	1	465	1	CARD14	17	78157817	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	48607297	78157817	3037393	71	17189											
BAIAP2	10458	broad.mit.edu	37	chr17	79080620	79080620	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcccaccccccgattaCggcgccgcctcccgggcctt	4	6	9	22	5	0	0	0	0	0	0	2	1	2	0	9	2	1	0	9	2	1	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr17:79080620C>T	uc002jzg.2	+	11	1521	c.1413C>T	c.(1411-1413)taC>taT	p.Y471Y	BAIAP2_uc002jyz.4_Silent_p.Y471Y|BAIAP2_uc002jza.2_Silent_p.Y471Y|BAIAP2_uc002jzc.2_Silent_p.Y472Y|BAIAP2_uc002jzb.2_Silent_p.Y228Y|BAIAP2_uc010wuh.1_Silent_p.Y393Y|BAIAP2_uc002jzd.2_Silent_p.Y471Y|BAIAP2_uc002jzf.2_Silent_p.Y471Y|BAIAP2_uc002jze.2_Silent_p.Y504Y|BAIAP2_uc002jzh.2_Silent_p.Y472Y|BAIAP2_uc010wui.2_Silent_p.Y334Y	NM_017451	NP_059345	Q9UQB8	BAIP2_HUMAN	Homo sapiens BAI1-associated protein 2 (BAIAP2), transcript variant 2, mRNA.	471					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCCCGATTACGGCGCCGCCT	0.697													T	79080620	C	T	79080620	2	4	246	1	0	0	0	0	0	0	0	1	1306	547	19	1		1	BAIAP2	17	79080620	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	922803	79080620	2114590	72	17190											
FECH	2235	broad.mit.edu	37	chr18	55230200	55230200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatagtatctgtaaatggcaTttaagctgctgcctgaaata	13	14	8	6	0	1	1	0	1	1	0	1	1	1	1	1	1	3	5	1	1	8	7			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:55230200T>C	uc002lgq.4	-	5	728	c.611A>G	c.(610-612)aAt>aGt	p.N204S	FECH_uc002lgp.4_Missense_Mutation_p.N210S|FECH_uc002lgr.4_Missense_Mutation_p.N62S	NM_000140	NP_000131	P22830	HEMH_HUMAN	Homo sapiens ferrochelatase (FECH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	204					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				GTAAATGGCATTTAAGCTGCT	0.408													C	55230200	T	C	55230200	3	2	246	1	0	0	0	0	1	0	0	0	5857	1493	52	3	684	3	FECH	18	55230200	Missense_Mutation	SNP	T	TCGA-41-3392-01A-01D-1495-08		55230200	22847048	73	17191											
ZNF236	7776	broad.mit.edu	37	chr18	74635065	74635065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaaagccatacaaatGtgatgaatgtggaaagagtt	17	9	12	3	0	0	4	0	2	0	2	0	6	0	5	1	2	2	1	1	2	6	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr18:74635065G>A	uc002lmi.3	+	20	3788	c.3590G>A	c.(3589-3591)tGt>tAt	p.C1197Y	ZNF236_uc002lmj.3_Non-coding_Transcript	NM_007345	NP_031371	Q9UL36	ZN236_HUMAN	Homo sapiens zinc finger protein 236 (ZNF236), mRNA.	1197					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		CCATACAAATGTGATGAATGT	0.368													A	74635065	G	A	74635065	3	1	246	1	0	0	0	0	1	0	0	0	17890	1377	48	2	3672	2	ZNF236	18	74635065	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	19404865	74635065	3442183	74	17192											
PLIN4	729359	broad.mit.edu	37	chr19	4511216	4511216	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtcaggacagtcttgctgGtgtccacgccggtctggaca	6	9	14	12	3	3	0	1	0	2	0	4	2	4	2	2	5	1	1	2	5	0	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:4511216G>T	uc002mar.1	-	2	2714	c.2714C>A	c.(2713-2715)aCc>aAc	p.T905N	PLIN4_uc010dub.1_5'UTR	NM_001080400	NP_001073869	Q96Q06	PLIN4_HUMAN	Homo sapiens perilipin 4 (PLIN4), mRNA.	905	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGTCTTGCTGGTGTCCACGCC	0.577													T	4511216	G	T	4511216	3	4	246	1	0	0	0	0	1	0	0	0	12169	1261	44	4	1375	4	PLIN4	19	4511216	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		4511216	54617767	75	17193											
CYP4F8	11283	broad.mit.edu	37	chr19	15728930	15728930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttgtgccaccctgacatCgtccgatctgtcatcaatac	10	11	6	14	2	3	1	2	1	1	0	5	2	4	1	3	0	3	0	3	0	3	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:15728930C>T	uc002nbi.3	+	2	382	c.318C>T	c.(316-318)atC>atT	p.I106I	CYP4F8_uc010xoi.1_Silent_p.I106I|CYP4F8_uc010xoj.2_Intron	NM_007253	NP_009184	P98187	CP4F8_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily F, polypeptide 8 (CYP4F8), mRNA.	106					prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						ACCCTGACATCGTCCGATCTG	0.567													T	15728930	C	T	15728930	2	4	246	1	0	0	0	0	0	0	0	1	4224	874	31	1		1	CYP4F8	19	15728930	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	11217714	15728930	43400053	76	17194											
KCNA7	3743	broad.mit.edu	37	chr19	49573469	49573469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaacatcccagcctcttCgccctctgtctcccggtgat	5	11	8	17	2	3	2	0	2	3	0	6	2	4	2	4	1	2	1	4	1	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49573469C>T	uc002pmg.3	-	1	1578	c.1222G>A	c.(1222-1224)Gaa>Aaa	p.E408K		NM_031886	NP_114092	Q96RP8	KCNA7_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 7 (KCNA7), mRNA.	408						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		CCAGCCTCTTCGCCCTCTGTC	0.597													T	49573469	C	T	49573469	3	4	246	1	0	0	0	0	1	0	0	0	8066	893	31	1	152	1	KCNA7	19	49573469	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	33844539	49573469	9555514	77	17195											
RPL13A	23521	broad.mit.edu	37	chr19	49994303	49994303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttctctaacagaaaaagCggatggtggttcctgctgcc	9	12	10	10	1	2	1	0	0	2	1	4	2	3	2	2	3	4	2	2	3	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:49994303C>T	uc002pny.3	+	5	371	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	RPL13A_uc002pnz.3_Missense_Mutation_p.R56W|SNORD35A_uc010enb.1_5'Flank	NM_012423	NP_036555	P40429	RL13A_HUMAN	Homo sapiens ribosomal protein L13a (RPL13A), mRNA.	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		ACAGAAAAAGCGGATGGTGGT	0.562													T	49994303	C	T	49994303	3	4	246	1	0	0	0	0	1	0	0	0	13651	759	27	1	371	1	RPL13A	19	49994303	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	420834	49994303	9134680	78	17196											
PRPF31	26121	broad.mit.edu	37	chr19	54627985	54627985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcgtctacctcagtgctgCcccacaccggctacatctac	7	10	6	18	2	4	0	1	0	3	0	5	0	4	0	4	1	5	2	4	1	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:54627985C>T	uc002qdh.2	+	7	1201	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	PRPF31_uc010yek.1_Missense_Mutation_p.P269S|PRPF31_uc021vbi.1_Missense_Mutation_p.P269S	NM_015629	NP_056444	Q8WWY3	PRP31_HUMAN	Homo sapiens PRP31 pre-mRNA processing factor 31 homolog (S. cerevisiae) (PRPF31), mRNA.	269	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CTCAGTGCTGCCCCACACCGG	0.672													T	54627985	C	T	54627985	3	4	246	1	0	0	0	0	1	0	0	0	12652	739	26	2	831	2	PRPF31	19	54627985	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08	4633682	54627985	4500998	79	17197											
PPP1R12C	54776	broad.mit.edu	37	chr19	55603589	55603589	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctggcctcggcgcccttaCctgcgtggcccgctccagct	2	8	11	20	4	0	0	0	0	0	0	2	0	1	0	6	3	3	2	6	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr19:55603589C>G	uc002qix.3	-	19	2176	c.2160_splice	c.e19+1	p.Q720_splice	PPP1R12C_uc010yfs.2_Splice_Site_p.Q645_splice|PPP1R12C_uc002qiy.3_Splice_Site_p.Q718_splice	NM_017607	NP_060077	Q9BZL4	PP12C_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 12C (PPP1R12C), mRNA.	720						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GGCGCCCTTACCTGCGTGGCC	0.721													G	55603589	C	G	55603589	5	3	246	1	0	0	0	0	0	0	1	0	12438	521	18	4	203	4	PPP1R12C	19	55603589	Splice_Site	SNP	C	TCGA-41-3392-01A-01D-1495-08	975604	55603589	3525394	80	17198											
PTPRT	11122	broad.mit.edu	37	chr20	41100999	41100999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggatggtcatgaaggggcGcaggcctcgcagggtgtagt	7	7	18	9	3	1	1	1	1	0	0	2	2	1	2	2	6	0	3	2	6	2	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:41100999G>A	uc002xkg.3	-	7	1541	c.1357C>T	c.(1357-1359)Cgc>Tgc	p.R453C	PTPRT_uc010ggj.3_Missense_Mutation_p.R453C	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	453	Fibronectin type-III 2.		R -> C (in a gastric cancer).		homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				ATGAAGGGGCGCAGGCCTCGC	0.607													A	41100999	G	A	41100999	3	1	246	1	0	0	0	0	1	0	0	0	12900	1087	38	1	3125	1	PTPRT	20	41100999	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		41100999	21924521	81	17199											
SLC13A3	64849	broad.mit.edu	37	chr20	45204315	45204315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagggctctgtctctGtgttgggagctgggcagaga	7	10	16	8	0	3	1	1	0	2	1	4	3	3	2	0	3	2	5	0	3	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr20:45204315G>C	uc002xsf.2	-	9	1269	c.1229C>G	c.(1228-1230)aCa>aGa	p.T410R	SLC13A3_uc010ghn.2_Missense_Mutation_p.T379R|SLC13A3_uc010zxx.2_Missense_Mutation_p.T312R|SLC13A3_uc010zxw.2_Missense_Mutation_p.T360R|SLC13A3_uc002xsg.2_Missense_Mutation_p.T363R|SLC13A3_uc010gho.2_Missense_Mutation_p.T328R|SLC13A3_uc010zxv.2_Intron	NM_022829	NP_073740	Q8WWT9	S13A3_HUMAN	Homo sapiens solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3 (SLC13A3), transcript variant 1, mRNA.	410						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	CTCTGTCTCTGTGTTGGGAGC	0.622													C	45204315	G	C	45204315	3	2	246	1	0	0	0	0	1	0	0	0	14487	1377	48	4	595	4	SLC13A3	20	45204315	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08	4103316	45204315	17821205	82	17200											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959481	45959481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgcaacggacgggcaCgcagcaggcctgctggcagg	8	4	17	12	3	0	0	0	0	0	0	0	1	0	1	1	6	4	7	1	6	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr21:45959481C>T	uc002zfh.1	-	0	598	c.553G>A	c.(553-555)Gtg>Atg	p.V185M	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198691	NP_941964	P60331	KR101_HUMAN	Homo sapiens keratin associated protein 10-1 (KRTAP10-1), mRNA.	185	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						CGGACGGGCACGCAGCAGGCC	0.627													T	45959481	C	T	45959481	3	4	246	1	0	0	0	0	1	0	0	0	8563	536	19	1	299	1	KRTAP10-1	21	45959481	Missense_Mutation	SNP	C	TCGA-41-3392-01A-01D-1495-08		45959481	2170414	83	17201											
RIMBP3	85376	broad.mit.edu	37	chr22	20458153	20458153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgcgcccggtagtgcGtgccggggcacaggccctgg	4	4	16	17	5	0	0	0	0	0	0	0	0	0	0	5	5	2	2	5	5	1	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:20458153G>A	uc002zsd.4	-	0	3634	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	RN7SK_uc021wlw.1_5'Flank	NM_015672	NP_056487			Homo sapiens RIMS binding protein 3 (RIMBP3), mRNA.											breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	13	Colorectal(54;0.0993)|Melanoma(16;0.165)		LUSC - Lung squamous cell carcinoma(15;0.0405)|Lung(15;0.224)			CCGGTAGTGCGTGCCGGGGCA	0.642													A	20458153	G	A	20458153	3	1	246	1	0	0	0	0	1	0	0	0	13453	1145	40	1	1774	1	RIMBP3	22	20458153	Missense_Mutation	SNP	G	TCGA-41-3392-01A-01D-1495-08		20458153	30846413	84	17202											
CABIN1	23523	broad.mit.edu	37	chr22	24439394	24439394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggactccacagatgtcaAcctctggtataagattggac	11	10	10	10	0	2	2	1	0	1	2	3	4	3	4	2	3	1	2	2	3	3	3			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:24439394A>G	uc002zzi.1	+	5	501	c.374A>G	c.(373-375)aAc>aGc	p.N125S	CABIN1_uc021wnc.1_Missense_Mutation_p.N125S|CABIN1_uc002zzj.1_Missense_Mutation_p.N125S|CABIN1_uc002zzl.2_Missense_Mutation_p.N125S|CABIN1_uc010guk.1_Missense_Mutation_p.N80S|CABIN1_uc002zzk.2_Missense_Mutation_p.N80S	NM_012295	NP_036427	Q9Y6J0	CABIN_HUMAN	Homo sapiens calcineurin binding protein 1 (CABIN1), transcript variant 2, mRNA.	125					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACAGATGTCAACCTCTGGTAT	0.557													G	24439394	A	G	24439394	3	3	246	1	0	0	0	0	1	0	0	0	2554	43	2	3	392	3	CABIN1	22	24439394	Missense_Mutation	SNP	A	TCGA-41-3392-01A-01D-1495-08	3981241	24439394	26865172	85	17203											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51042339	51042340	+	Frame_Shift_Del	DEL	GC	GC	-																															gtcgccagtgcgcccgggttGcgactgcgaagggaaccggc																										TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chr22:51042339_51042340delGC	uc003bmx.3	+	4	728_729	c.611_612delGC	c.(610-612)tgcfs	p.C204fs	MAPK8IP2_uc003bmy.3_Frame_Shift_Del_p.C177fs|MAPK8IP2_uc011asc.2_5'Flank	NM_012324	NP_036456	Q13387	JIP2_HUMAN	Homo sapiens mitogen-activated protein kinase 8 interacting protein 2 (MAPK8IP2), transcript variant 1, mRNA.	204	JNK-binding domain (JBD).				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGCCCGGGTTGCGACTGCGAAG	0.743													-	51042340	GC	-	51042339	7	5	246	1	0	1	0	1	0	0	0	0	9360	1319	46	0	719	0	MAPK8IP2	22	51042339	Frame_Shift_Del	DEL	GC	TCGA-41-3392-01A-01D-1495-08	26602945	51042339	262227	86	17204											
XKRX	402415	broad.mit.edu	37	chrX	100169504	100169504	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccaatggaaatcagAtaagcaataatgagctgcaa	19	7	9	6	0	1	3	1	2	0	1	1	4	1	4	1	1	4	3	1	1	7	2			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:100169504A>G	uc004egn.2	-	2	1778	c.1173T>C	c.(1171-1173)taT>taC	p.Y391Y	XKRX_uc011mre.1_Silent_p.Y187Y	NM_212559	NP_997724	Q6PP77	XKR2_HUMAN	Homo sapiens XK, Kell blood group complex subunit-related, X-linked (XKRX), mRNA.	391						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TGGAAATCAGATAAGCAATAA	0.403													G	100169504	A	G	100169504	2	3	246	1	0	0	0	0	0	0	0	1	17541	340	12	3		3	XKRX	23	100169504	Silent	SNP	A	TCGA-41-3392-01A-01D-1495-08		100169504	55101056	87	17205											
SLITRK4	139065	broad.mit.edu	37	chrX	142718880	142718880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtcagaatctgcatttgtCgaagaaatcagggctgacaa	14	10	10	7	1	3	3	2	1	1	2	4	4	3	3	0	1	1	2	0	1	4	1			TCGA-41-3392-01A-01D-1495-08	TCGA-41-3392-10A-01D-1495-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c08b37a5-9938-4ab0-8183-d73b01cb9a89	63bffde9-61a1-47e7-ab0b-701ee6f19fdb	g.chrX:142718880C>T	uc022cfm.1	-	0	45	c.45G>A	c.(43-45)tcG>tcA	p.S15S	SLITRK4_uc022cfl.1_Silent_p.S15S|SLITRK4_uc004fbx.3_Silent_p.S15S|SLITRK4_uc004fby.3_Silent_p.S15S	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	15						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCATTTGTCGAAGAAATCA	0.388													T	142718880	C	T	142718880	2	4	246	1	0	0	0	0	0	0	0	1	14839	871	31	1		1	SLITRK4	23	142718880	Silent	SNP	C	TCGA-41-3392-01A-01D-1495-08	42549376	142718880	12551680	88	17206											
MEGF6	1953	broad.mit.edu	37	chr1	3412515	3412515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgccggtcacagggtcGcaggccgccccctgcccaca	6	4	13	18	3	1	0	1	0	0	0	2	0	1	0	5	4	2	1	5	4	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:3412515G>A	uc001akl.3	-	29	4037	c.3810C>T	c.(3808-3810)tgC>tgT	p.C1270C	MEGF6_uc001akk.3_Silent_p.C1035C	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	1270	EGF-like 23.					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCACAGGGTCGCAGGCCGCCC	0.706													A	3412515	G	A	3412515	2	1	247	1	0	0	0	0	0	0	0	1	9537	1079	38	1		1	MEGF6	1	3412515	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		3412515	245838106	1	17207											
BARHL2	343472	broad.mit.edu	37	chr1	91182336	91182336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttaattaaaaaagaagaCgtggaagtcctgggggccga	14	8	12	7	2	0	2	0	0	0	2	2	4	2	3	3	3	0	0	3	3	6	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:91182336C>T	uc001dns.3	-	0	459	c.417G>A	c.(415-417)acG>acA	p.T139T		NM_020063	NP_064447	Q9NY43	BARH2_HUMAN	Homo sapiens BarH-like homeobox 2 (BARHL2), mRNA.	139						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AAAAAGAAGACGTGGAAGTCC	0.657													T	91182336	C	T	91182336	2	4	247	1	0	0	0	0	0	0	0	1	1319	523	19	1		1	BARHL2	1	91182336	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	87769821	91182336	158068285	2	17208											
SLC6A17	388662	broad.mit.edu	37	chr1	110735165	110735165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtaccttaacaccaacGtcctgagccgggacctcatc	10	8	9	14	2	1	1	1	1	0	0	3	2	2	2	5	2	4	1	5	2	4	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:110735165G>A	uc009wfq.3	+	7	1605	c.1144G>A	c.(1144-1146)Gtc>Atc	p.V382I	SLC6A17_uc001dze.1_5'UTR	NM_001010898	NP_001010898	Q9H1V8	S6A17_HUMAN	Homo sapiens solute carrier family 6, member 17 (SLC6A17), mRNA.	382					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TAACACCAACGTCCTGAGCCG	0.537													A	110735165	G	A	110735165	3	1	247	1	0	0	0	0	1	0	0	0	14774	1145	40	1	1170	1	SLC6A17	1	110735165	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	19552829	110735165	138515456	3	17209											
RFX5	5993	broad.mit.edu	37	chr1	151315095	151315095	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctttccccacttccacctGacttttttcgagggcgcccc	4	13	6	18	2	0	1	0	1	0	0	4	2	3	1	7	1	0	0	7	1	0	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:151315095G>C	uc001exv.1	-	10	1632	c.1418C>G	c.(1417-1419)tCa>tGa	p.S473*	RFX5_uc001exw.1_Nonsense_Mutation_p.S473*|RFX5_uc010pcx.1_Nonsense_Mutation_p.S433*	NM_001025603	NP_001020774	P48382	RFX5_HUMAN	Homo sapiens regulatory factor X, 5 (influences HLA class II expression) (RFX5), transcript variant 2, mRNA.	473						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			ACTTCCACCTGACTTTTTTCG	0.547													C	151315095	G	C	151315095	4	2	247	1	0	0	0	0	0	1	0	0	13354	1294	45	4	436	4	RFX5	1	151315095	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	40579930	151315095	97935526	4	17210											
IL20	50604	broad.mit.edu	37	chr1	207039922	207039922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgaccattatactctcCggaagatcagcagcctcgcc	9	8	7	17	2	2	2	1	1	1	1	4	3	2	3	6	1	3	1	6	1	3	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:207039922C>T	uc001her.3	+	2	363	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	IL20_uc009xby.3_Missense_Mutation_p.R107W	NM_018724	NP_061194	Q9NYY1	IL20_HUMAN	Homo sapiens interleukin 20 (IL20), mRNA.	107			R -> Q (in dbSNP:rs35856950).		positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TTATACTCTCCGGAAGATCAG	0.512													T	207039922	C	T	207039922	3	4	247	1	0	0	0	0	1	0	0	0	7725	643	23	1	329	1	IL20	1	207039922	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	55724827	207039922	42210699	5	17211											
OBSCN	84033	broad.mit.edu	37	chr1	228557666	228557666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacctgctcatccccatttgCcggcgagagtgaccgtgcca	7	8	11	15	3	1	2	1	1	0	1	2	4	2	2	6	1	3	1	6	1	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:228557666C>T	uc009xez.1	+	90	20035	c.19991C>T	c.(19990-19992)gCc>gTc	p.A6664V	OBSCN_uc001hsr.1_Missense_Mutation_p.A1293V	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6664	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCCCATTTGCCGGCGAGAGT	0.632													T	228557666	C	T	228557666	3	4	247	1	0	0	0	0	1	0	0	0	10888	739	26	2	21559	2	OBSCN	1	228557666	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	21517744	228557666	20692955	6	17212											
ZP4	57829	broad.mit.edu	37	chr1	238050155	238050155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcattttcatatactgctCggtctccagtgatctacagg	8	15	8	10	1	4	1	2	1	2	0	6	1	4	1	1	2	3	2	1	2	3	6	rs148891266	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr1:238050155C>T	uc001hym.3	-	5	1042	c.755G>A	c.(754-756)cGa>cAa	p.R252Q	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	252	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATACTGCTCGGTCTCCAGT	0.473													T	238050155	C	T	238050155	3	4	247	1	0	0	0	0	1	0	0	0	18317	884	31	1	895	1	ZP4	1	238050155	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	9492489	238050155	11200466	7	17213											
KCNH7	90134	broad.mit.edu	37	chr2	163253351	163253351	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctctaacaagtcttctcGctgaatcttatgcaagtcac	12	12	5	12	1	5	1	1	1	4	0	6	1	5	1	1	0	3	2	1	0	6	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:163253351G>A	uc002uch.2	-	10	2741	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*		NM_033272	NP_150375	Q9NS40	KCNH7_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 7 (KCNH7), transcript variant 1, mRNA.	838					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAGTCTTCTCGCTGAATCTTA	0.383													A	163253351	G	A	163253351	4	1	247	1	0	0	0	0	0	1	0	0	8095	1095	38	1	1102	1	KCNH7	2	163253351	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		163253351	79946022	8	17214											
TTC21B	79809	broad.mit.edu	37	chr2	166799848	166799848	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatgctttcaaaacgtGtccctgtaaaatgaataatt	15	12	6	8	1	1	1	1	1	0	0	2	1	2	1	2	0	3	2	2	0	7	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:166799848G>T	uc002udk.3	-	4	566	c.433C>A	c.(433-435)Cac>Aac	p.H145N	TTC21B_uc002udl.3_Missense_Mutation_p.H145N|LOC100506134_uc021vsa.1_Intron|LOC100506134_uc002udm.2_Intron	NM_024753	NP_079029	Q7Z4L5	TT21B_HUMAN	Homo sapiens tetratricopeptide repeat domain 21B (TTC21B), mRNA.	145						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						TTCAAAACGTGTCCCTGTAAA	0.313													T	166799848	G	T	166799848	3	4	247	1	0	0	0	0	1	0	0	0	16790	1377	48	4	3617	4	TTC21B	2	166799848	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	3546497	166799848	76399525	9	17215											
SDPR	8436	broad.mit.edu	37	chr2	192700730	192700730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcctcggatgttagcgcGtagctaccctcatagcgtac	7	10	10	14	4	1	0	1	0	0	0	3	1	2	1	3	1	5	4	3	1	5	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr2:192700730G>A	uc002utb.3	-	1	1552	c.1197C>T	c.(1195-1197)taC>taT	p.Y399Y		NM_004657	NP_004648	O95810	SDPR_HUMAN	Homo sapiens serum deprivation response (SDPR), mRNA.	399						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ATGTTAGCGCGTAGCTACCCT	0.612													A	192700730	G	A	192700730	2	1	247	1	0	0	0	0	0	0	0	1	14063	1140	40	1		1	SDPR	2	192700730	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	25900882	192700730	50498643	10	17216											
DNAH12	201625	broad.mit.edu	37	chr3	57488121	57488121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagtgtatcaacagccCagtgtaacacgtgttcagga	11	10	9	11	1	3	0	3	0	0	0	3	1	3	1	2	1	3	3	2	1	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:57488121C>A	uc003dit.2	-	9	1353	c.1172G>T	c.(1171-1173)tGg>tTg	p.W391L	DNAH12_uc003diu.2_Missense_Mutation_p.W391L	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	391	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						ATCAACAGCCCAGTGTAACAC	0.393													A	57488121	C	A	57488121	3	1	247	1	0	0	0	0	1	0	0	0	4639	595	21	4	8349	4	DNAH12	3	57488121	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		57488121	140534309	11	17217											
UBA5	79876	broad.mit.edu	37	chr3	132390695	132390695	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcagggcatatacagctTataattcctggagaatctgc	11	13	9	8	0	2	1	1	0	1	1	3	2	3	1	1	2	3	3	1	2	5	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:132390695T>C	uc003epa.4	+	6	896	c.654T>C	c.(652-654)ctT>ctC	p.L218L	NPHP3_uc003eoz.1_Intron|UBA5_uc010htr.3_Silent_p.L162L|UBA5_uc003epb.4_Silent_p.L162L	NM_024818	NP_938143	Q9GZZ9	UBA5_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 5 (UBA5), transcript variant 1, mRNA.	218					protein ufmylation	aggresome|cytoplasm|nucleus	ATP binding|cofactor binding|metal ion binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding|UFM1 activating enzyme activity			breast(2)|endometrium(4)|kidney(4)|large_intestine(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						ATATACAGCTTATAATTCCTG	0.368													C	132390695	T	C	132390695	2	2	247	1	0	0	0	0	0	0	0	1	16932	1741	61	3		3	UBA5	3	132390695	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	74902574	132390695	65631735	12	17218											
PRR23B	389151	broad.mit.edu	37	chr3	138739151	138739151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacttccagcccggcagacGagtcgtgctgcgctcctgag	6	7	12	16	4	0	2	0	1	0	1	3	3	2	2	4	1	3	3	4	1	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:138739151G>A	uc003esy.1	-	0	618	c.353C>T	c.(352-354)tCg>tTg	p.S118L		NM_001013650	NP_001013672	Q6ZRT6	PR23B_HUMAN	Homo sapiens proline rich 23B (PRR23B), mRNA.	118										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGGCAGACGAGTCGTGCTG	0.632													A	138739151	G	A	138739151	3	1	247	1	0	0	0	0	1	0	0	0	12681	1059	37	1	448	1	PRR23B	3	138739151	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6348456	138739151	59283279	13	17219											
B3GALNT1	8706	broad.mit.edu	37	chr3	160803715	160803715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgaatgttcacttttaaTaaattcaaacagatcccgac	16	13	4	8	1	2	2	2	1	0	1	3	3	3	2	1	0	1	1	1	0	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:160803715T>A	uc003fdv.3	-	4	1247	c.828A>T	c.(826-828)ttA>ttT	p.L276F	B3GALNT1_uc003fdw.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdx.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdy.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fdz.3_Missense_Mutation_p.L276F|B3GALNT1_uc003fea.3_Missense_Mutation_p.L276F|B3GALNT1_uc011bpa.2_Intron|B3GALNT1_uc021xgw.1_Missense_Mutation_p.L276F	NM_033169	NP_149359	O75752	B3GL1_HUMAN	Homo sapiens beta-1,3-N-acetylgalactosaminyltransferase 1 (globoside blood group) (B3GALNT1), transcript variant 4, mRNA.	276					protein glycosylation	Golgi membrane|integral to membrane	galactosylgalactosylglucosylceramide beta-D-acetylgalactosaminyltransferase activity|UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(72;4.41e-05)|Lung(72;4.61e-05)			TCACTTTTAATAAATTCAAAC	0.363													A	160803715	T	A	160803715	3	1	247	1	0	0	0	0	1	0	0	0	1250	1403	49	5	171	5	B3GALNT1	3	160803715	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	22064564	160803715	37218715	14	17220											
MUC4	4585	broad.mit.edu	37	chr3	195509188	195509188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctggtgacaggaagaGgggtggcgtgacctgtggat	10	7	19	5	1	0	3	0	2	0	1	0	5	0	5	1	7	0	1	1	7	2	0	rs71291868		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:195509188G>A	uc021xjp.1	-	1	9419	c.9263C>T	c.(9262-9264)cCt>cTt	p.P3088L	MUC4_uc021xjm.1_5'Flank|MUC4_uc021xjn.1_5'Flank|MUC4_uc021xjo.1_5'Flank|MUC4_uc021xjg.1_5'Flank|MUC4_uc021xjh.1_5'Flank|MUC4_uc021xji.1_5'Flank|MUC4_uc021xjj.1_5'Flank|MUC4_uc021xjk.1_5'Flank|MUC4_uc021xjl.1_5'Flank|MUC4_uc003fvo.3_Intron|MUC4_uc003fvp.3_Intron	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Homo sapiens mucin 4, cell surface associated (MUC4), transcript variant 1, mRNA.	829					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GACAGGAAGAGGGGTGGCGTG	0.592													A	195509188	G	A	195509188	3	1	247	1	0	0	0	0	1	0	0	0	10054	1000	35	2		2	MUC4	3	195509188	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	34705473	195509188	2513242	15	17221											
NCBP2	22916	broad.mit.edu	37	chr3	196664454	196664454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagtctgtgcgaatgattCggtcatccagacgcgtccca	8	9	10	14	4	2	2	1	1	1	1	5	3	4	2	3	1	1	0	3	1	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr3:196664454C>T	uc003fxd.1	-	2	416	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	NCBP2_uc003fxb.1_Missense_Mutation_p.R39Q|NCBP2_uc011btz.1_Missense_Mutation_p.R91Q|NCBP2_uc003fxc.1_Non-coding_Transcript|NCBP2_uc003fxe.1_Missense_Mutation_p.R56Q|NCBP2_uc003fxf.3_3'UTR	NM_007362	NP_031388	P52298	NCBP2_HUMAN	Homo sapiens nuclear cap binding protein subunit 2, 20kDa (NCBP2), transcript variant 1, mRNA.	109	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		GCGAATGATTCGGTCATCCAG	0.527													T	196664454	C	T	196664454	3	4	247	1	0	0	0	0	1	0	0	0	10288	884	31	1	152	1	NCBP2	3	196664454	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	1155266	196664454	1357976	16	17222											
CSN2	1447	broad.mit.edu	37	chr4	70822070	70822070	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaactttgaaatcttcttAgaccttaaaaataaacagat	18	14	3	6	0	2	3	0	1	2	2	2	3	2	3	1	0	2	0	1	0	8	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:70822070A>G	uc003hes.4	-	5	692	c.679T>C	c.(679-681)Taa>Caa	p.*227Q	CSN2_uc003het.4_Nonstop_Mutation_p.*226Q	NM_001891	NP_001882	P05814	CASB_HUMAN	Homo sapiens casein beta (CSN2), mRNA.	0					calcium ion transport	extracellular region	calcium ion binding|enzyme inhibitor activity|transporter activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|skin(2)	12						AAATCTTCTTAGACCTTAAAA	0.269													G	70822070	A	G	70822070	4	3	247	1	0	0	0	0	0	0	0	0	3981	433	15	3	5	3	CSN2	4	70822070	Nonstop_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08		70822070	120332206	17	17223											
ALB	213	broad.mit.edu	37	chr4	74279142	74279142	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaacttacttataggcggaCcttgccaagtatatctgtga	11	12	8	10	1	1	1	0	1	1	0	1	2	1	2	3	2	3	1	3	2	7	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74279142C>G	uc003hgs.4	+	7	922	c.849C>G	c.(847-849)gaC>gaG	p.D283E	ALB_uc011cbe.2_5'UTR|ALB_uc003hgw.4_Missense_Mutation_p.D91E|ALB_uc011cbf.2_Missense_Mutation_p.D173E	NM_000477	NP_000468	P02768	ALBU_HUMAN	Homo sapiens albumin (ALB), mRNA.	283	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	TATAGGCGGACCTTGCCAAGT	0.393													G	74279142	C	G	74279142	3	3	247	1	0	0	0	0	1	0	0	0	486	506	18	4	879	4	ALB	4	74279142	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	3457072	74279142	116875134	18	17224											
AFM	173	broad.mit.edu	37	chr4	74354363	74354363	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatatattgcgatactcAgtcaaaaattccccaagatt	15	11	5	10	1	2	2	2	0	0	2	3	3	3	2	3	0	2	0	3	0	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:74354363A>G	uc003hhb.3	+	6	761	c.730A>G	c.(730-732)Agt>Ggt	p.S244G		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	244	Albumin 2.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCGATACTCAGTCAAAAATT	0.343													G	74354363	A	G	74354363	3	3	247	1	0	0	0	0	1	0	0	0	361	188	7	3	756	3	AFM	4	74354363	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	75221	74354363	116799913	19	17225											
MMRN1	22915	broad.mit.edu	37	chr4	90874191	90874191	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgcacccatggtggcattTtttgcatctcatacgtatgg	8	15	9	9	1	1	0	1	0	1	0	2	0	1	0	1	3	3	4	1	3	3	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:90874191T>G	uc003hst.3	+	7	3380	c.3309T>G	c.(3307-3309)ttT>ttG	p.F1103L	MMRN1_uc010iku.3_Missense_Mutation_p.F406L|MMRN1_uc011cds.2_Missense_Mutation_p.F845L	NM_007351	NP_031377	Q13201	MMRN1_HUMAN	Homo sapiens multimerin 1 (MMRN1), mRNA.	1103	C1q.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TGGTGGCATTTTTTGCATCTC	0.338													G	90874191	T	G	90874191	3	3	247	1	0	0	0	0	1	0	0	0	9746	1838	64	5	3339	5	MMRN1	4	90874191	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	16519828	90874191	100280085	20	17226											
KLKB1	3818	broad.mit.edu	37	chr4	187157968	187157968	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttataaaggagttgataTgagaggagtcaattttaatg	15	14	10	2	0	1	2	1	2	0	1	1	5	1	4	0	2	0	1	0	2	6	7			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr4:187157968T>A	uc003iyy.3	+	4	433	c.362T>A	c.(361-363)aTg>aAg	p.M121K	KLKB1_uc011clc.2_5'UTR|KLKB1_uc011cld.2_Missense_Mutation_p.M83K	NM_000892	NP_000883	P03952	KLKB1_HUMAN	Homo sapiens kallikrein B, plasma (Fletcher factor) 1 (KLKB1), mRNA.	121	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGAGTTGATATGAGAGGAGTC	0.378													A	187157968	T	A	187157968	3	1	247	1	0	0	0	0	1	0	0	0	8470	1464	51	5	376	5	KLKB1	4	187157968	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	96283777	187157968	3996308	21	17227											
SH3TC2	79628	broad.mit.edu	37	chr5	148417964	148417964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccaggtatgacaaagcCgatgatctcaatgctttctc	12	10	8	11	1	2	2	1	2	2	0	4	3	2	2	2	1	3	2	2	1	4	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr5:148417964C>T	uc003lpu.3	-	7	1047	c.895G>A	c.(895-897)Ggc>Agc	p.G299S	SH3TC2_uc003lpp.1_Non-coding_Transcript|SH3TC2_uc003lps.3_Non-coding_Transcript|SH3TC2_uc003lpt.3_5'UTR|SH3TC2_uc010jgx.3_Missense_Mutation_p.G292S|SH3TC2_uc003lpv.1_5'UTR|SH3TC2_uc011dbz.1_Missense_Mutation_p.G184S	NM_024577	NP_078853	Q8TF17	S3TC2_HUMAN	Homo sapiens SH3 domain and tetratricopeptide repeats 2 (SH3TC2), mRNA.	299	SH3.						binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGACAAAGCCGATGATCTCA	0.473													T	148417964	C	T	148417964	3	4	247	1	0	0	0	0	1	0	0	0	14356	652	23	1	3011	1	SH3TC2	5	148417964	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		148417964	32497296	22	17228											
OR2J3	442186	broad.mit.edu	37	chr6	29080039	29080039	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtggtgatgtcctatgaCcgttatgcagctgtgtgtag	6	14	14	7	1	0	2	0	2	0	0	1	2	1	2	2	2	2	4	2	2	3	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:29080039C>T	uc011dll.2	+	0	372	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001005216	NP_001005216	O76001	OR2J3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily J, member 3 (OR2J3), mRNA.	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGTCCTATGACCGTTATGCAG	0.488													T	29080039	C	T	29080039	2	4	247	1	0	0	0	0	0	0	0	1	11080	506	18	2		2	OR2J3	6	29080039	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08		29080039	142035028	23	17229											
TNXB	7148	broad.mit.edu	37	chr6	32041532	32041532	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgtagactgtgacctctcGctggtctgccgccaccggca	5	10	12	14	3	2	2	0	1	2	1	3	2	2	2	4	2	1	4	4	2	1	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:32041532G>A	uc003nzl.2	-	11	4775	c.4573C>T	c.(4573-4575)Cga>Tga	p.R1525*		NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	1612	Fibronectin type-III 7.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTGACCTCTCGCTGGTCTGCC	0.567													A	32041532	G	A	32041532	4	1	247	1	0	0	0	0	0	1	0	0	16446	1095	38	1	10272	1	TNXB	6	32041532	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	2961493	32041532	139073535	24	17230											
C6orf89	221477	broad.mit.edu	37	chr6	36891125	36891125	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctatttcccctcaaggcTatgtcgacaccacccactgg	8	11	7	15	1	1	0	1	0	0	0	3	1	2	0	4	2	1	2	4	2	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr6:36891125T>A	uc003omw.3	+	7	1136	c.973T>A	c.(973-975)Tat>Aat	p.Y325N	C6orf89_uc003omv.3_Missense_Mutation_p.Y212N|C6orf89_uc003omx.3_Missense_Mutation_p.Y318N|C6orf89_uc011dtr.2_Missense_Mutation_p.Y212N	NM_152734	NP_689947	Q6UWU4	CF089_HUMAN	Homo sapiens chromosome 6 open reading frame 89 (C6orf89), mRNA.	318						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						CCCTCAAGGCTATGTCGACAC	0.552													A	36891125	T	A	36891125	3	1	247	1	0	0	0	0	1	0	0	0	2396	1522	53	5	1003	5	C6orf89	6	36891125	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	4849593	36891125	134223942	25	17231											
AOAH	313	broad.mit.edu	37	chr7	36616236	36616236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggtttcttttccataagCgaaggtaaatagatttttct	11	17	8	5	1	2	1	0	0	2	1	3	2	3	1	1	2	1	2	1	2	5	8			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:36616236C>T	uc022abu.1	-	12	1366	c.965G>A	c.(964-966)cGc>cAc	p.R322H	AOAH_uc003tfh.4_Missense_Mutation_p.R322H|AOAH_uc011kba.2_Missense_Mutation_p.R290H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	322					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.R322C(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TTTCCATAAGCGAAGGTAAAT	0.303													T	36616236	C	T	36616236	3	4	247	1	0	0	0	0	1	0	0	0	728	768	27	1	1139	1	AOAH	7	36616236	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		36616236	122522427	26	17232											
HECW1	23072	broad.mit.edu	37	chr7	43484236	43484236	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaggaggagcccttggagGaggaagcaacgacccagagc	13	2	15	11	1	0	1	0	0	0	1	0	7	0	6	3	5	4	1	3	5	3	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:43484236G>T	uc003tid.1	+	10	2070	c.1465G>T	c.(1465-1467)Gag>Tag	p.E489*	HECW1_uc011kbi.1_Nonsense_Mutation_p.E489*	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	489	Glu-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCCTTGGAGGAGGAAGCAAC	0.632													T	43484236	G	T	43484236	4	4	247	1	0	0	0	0	0	1	0	0	7097	1175	41	4	1499	4	HECW1	7	43484236	Nonsense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6868000	43484236	115654427	27	17233											
DDC	1644	broad.mit.edu	37	chr7	50534977	50534977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaaagcggggatcctggcGcaccagtgactcaaactcat	11	8	10	12	2	3	1	3	1	0	0	4	2	4	2	2	3	2	1	2	3	2	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50534977G>A	uc003tpg.4	-	12	1378	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	DDC_uc022ade.1_Missense_Mutation_p.R315C|DDC_uc003tpf.4_Missense_Mutation_p.R393C|DDC_uc022adb.1_Missense_Mutation_p.R355C|DDC_uc022adc.1_Missense_Mutation_p.R345C|DDC_uc022add.1_Missense_Mutation_p.R300C	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	393					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GGATCCTGGCGCACCAGTGAC	0.433													A	50534977	G	A	50534977	3	1	247	1	0	0	0	0	1	0	0	0	4359	1087	38	1	273	1	DDC	7	50534977	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	7050741	50534977	108603686	28	17234											
DDC	1644	broad.mit.edu	37	chr7	50607722	50607722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggggctgtgccagtgcGtcacctgcatgggaggacag	8	7	17	9	1	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:50607722G>A	uc003tpg.4	-	2	407	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DDC_uc022ade.1_Intron|DDC_uc003tpf.4_Missense_Mutation_p.T69M|DDC_uc022adb.1_Intron|DDC_uc022adc.1_Missense_Mutation_p.T69M|DDC_uc022add.1_Missense_Mutation_p.T69M|DDC_uc022adf.1_Missense_Mutation_p.T69M|LOC100129427_uc022adg.1_Non-coding_Transcript	NM_001082971	NP_001076440	P20711	DDC_HUMAN	Homo sapiens dopa decarboxylase (aromatic L-amino acid decarboxylase) (DDC), transcript variant 1, mRNA.	69	2 X approximate tandem repeats.				cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding	p.T69M(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTGCCAGTGCGTCACCTGCAT	0.647													A	50607722	G	A	50607722	3	1	247	1	0	0	0	0	1	0	0	0	4359	1145	40	1	1284	1	DDC	7	50607722	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	72745	50607722	108530941	29	17235											
SEMA3D	223117	broad.mit.edu	37	chr7	84727157	84727157	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaagtcaaccagactgagTagaaagatgtggtctttggc	12	12	11	6	0	2	4	1	1	1	3	2	4	2	4	1	2	1	1	1	2	4	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:84727157T>C	uc003uic.3	-	1	316	c.276A>G	c.(274-276)ctA>ctG	p.L92L	SEMA3D_uc010led.3_Silent_p.L92L|SEMA3D_uc010lee.1_Silent_p.L92L	NM_152754	NP_689967	O95025	SEM3D_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D (SEMA3D), mRNA.	92	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCAGACTGAGTAGAAAGATGT	0.363													C	84727157	T	C	84727157	2	2	247	1	0	0	0	0	0	0	0	1	14120	1625	57	3		3	SEMA3D	7	84727157	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	34119435	84727157	74411506	30	17236											
ADAM22	53616	broad.mit.edu	37	chr7	87774461	87774461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgatcctcctgagtgtGgcaatggcttcattgaaact	8	15	9	9	0	2	3	1	3	1	0	4	3	4	3	2	2	1	2	2	2	2	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:87774461G>A	uc003ujn.3	+	15	1557	c.1342G>A	c.(1342-1344)Ggc>Agc	p.G448S	ADAM22_uc003ujk.2_Missense_Mutation_p.G448S|ADAM22_uc003ujl.2_Missense_Mutation_p.G448S|ADAM22_uc003ujm.3_Missense_Mutation_p.G448S|ADAM22_uc003ujo.3_Missense_Mutation_p.G448S|ADAM22_uc003ujp.1_Missense_Mutation_p.G500S	NM_021723	NP_068369	Q9P0K1	ADA22_HUMAN	Homo sapiens ADAM metallopeptidase domain 22 (ADAM22), transcript variant 1, mRNA.	448	Disintegrin.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGAGTGTGGCAATGGCTT	0.408													A	87774461	G	A	87774461	3	1	247	1	0	0	0	0	1	0	0	0	244	1348	47	2	1404	2	ADAM22	7	87774461	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	3047304	87774461	71364202	31	17237											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138764823	138764823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgagatcgtccacaggCgcgtcctccagggaagccct	7	6	14	14	4	0	1	0	1	0	1	4	3	3	2	4	3	1	0	4	3	1	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:138764823C>T	uc003vun.3	-	3	1252	c.864G>A	c.(862-864)gcG>gcA	p.A288A	ZC3HAV1_uc003vuo.3_5'Flank|ZC3HAV1_uc003vup.3_Silent_p.A288A	NM_020119	NP_064504	Q7Z2W4	ZCCHV_HUMAN	Homo sapiens zinc finger CCCH-type, antiviral 1 (ZC3HAV1), transcript variant 1, mRNA.	288					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						CGTCCACAGGCGCGTCCTCCA	0.587													T	138764823	C	T	138764823	2	4	247	1	0	0	0	0	0	0	0	1	17676	755	27	1		1	ZC3HAV1	7	138764823	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	50990362	138764823	20373840	32	17238											
MKRN1	23608	broad.mit.edu	37	chr7	140154505	140154505	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctctttcctcaatgagttCccagaagtggttccttcgtt	6	16	7	12	1	2	2	1	1	1	1	7	2	5	2	3	1	0	3	3	1	2	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr7:140154505C>A	uc003vvt.2	-	7	1486	c.1261G>T	c.(1261-1263)Gaa>Taa	p.E421*	MKRN1_uc003vvs.2_Nonsense_Mutation_p.E357*|MKRN1_uc011krd.1_Nonsense_Mutation_p.E155*	NM_013446	NP_038474	Q9UHC7	MKRN1_HUMAN	Homo sapiens makorin ring finger protein 1 (MKRN1), transcript variant 1, mRNA.	421							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					TCAATGAGTTCCCAGAAGTGG	0.468													A	140154505	C	A	140154505	4	1	247	1	0	0	0	0	0	1	0	0	9681	864	30	4	191	4	MKRN1	7	140154505	Nonsense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	1389682	140154505	18984158	33	17239											
PIWIL2	55124	broad.mit.edu	37	chr8	22165552	22165552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaccaatgaactgatgcGttgggggctccgtctgcaaa	10	8	12	11	2	1	2	0	2	1	0	2	2	2	2	3	2	4	3	3	2	3	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:22165552G>A	uc003xbn.2	+	13	1800	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	PIWIL2_uc011kzf.1_Missense_Mutation_p.R551H|PIWIL2_uc010ltv.2_Missense_Mutation_p.R551H	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	551					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		GAACTGATGCGTTGGGGGCTC	0.453													A	22165552	G	A	22165552	3	1	247	1	0	0	0	0	1	0	0	0	12035	1145	40	1	1702	1	PIWIL2	8	22165552	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		22165552	124198470	34	17240											
ADAM28	10863	broad.mit.edu	37	chr8	24181517	24181517	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattgctcagttaatcacGtatgtacagattttctccca	11	15	6	9	1	3	1	2	0	1	1	4	2	3	1	1	0	2	4	1	0	4	7	rs138768775		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr8:24181517G>A	uc003xdy.3	+	9	973	c.890_splice	c.e9+1	p.T297_splice	ADAM28_uc003xdx.3_Splice_Site_p.T297_splice|ADAM28_uc011kzz.2_Splice_Site_p.T64_splice|ADAM28_uc011laa.2_Splice_Site|ADAM28_uc010lua.3_5'Flank	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	297	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423													A	24181517	G	A	24181517	5	1	247	1	0	0	0	0	0	0	1	0	246	1159	40	1	925	1	ADAM28	8	24181517	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	2015965	24181517	122182505	35	17241											
PTGR1	22949	broad.mit.edu	37	chr9	114332377	114332377	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggagctccttacctctaaGacccatttcagcaagtcctt	9	11	6	15	1	2	1	1	0	1	1	4	2	4	2	5	1	3	2	5	1	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:114332377G>A	uc010mue.3	-	8	1136	c.873C>T	c.(871-873)gtC>gtT	p.V291V	ZNF483_uc004bfg.2_Intron|PTGR1_uc011lwr.2_Silent_p.V291V|PTGR1_uc004bfh.2_Silent_p.V291V|PTGR1_uc004bfi.3_Silent_p.V291V|PTGR1_uc004bfj.3_Silent_p.V168V	NM_001146109	NP_001139581	Q14914	PTGR1_HUMAN	Homo sapiens prostaglandin reductase 1 (PTGR1), transcript variant 3, mRNA.	291					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTACCTCTAAGACCCATTTCA	0.498													A	114332377	G	A	114332377	2	1	247	1	0	0	0	0	0	0	0	1	12839	929	33	2		2	PTGR1	9	114332377	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		114332377	26881054	36	17242											
TPRN	286262	broad.mit.edu	37	chr9	140086667	140086667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacacatgggctcgccCgggtgtcagactccccccag	6	7	13	15	2	1	1	1	0	0	1	3	2	2	2	4	3	0	1	4	3	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:140086667C>T	uc004clt.3	-	2	2117	c.2117G>A	c.(2116-2118)cGg>cAg	p.R706Q	TPRN_uc004clu.3_Intron	NM_001128228	NP_001121700	Q4KMQ1	TPRN_HUMAN	Homo sapiens taperin (TPRN), mRNA.	691					sensory perception of sound	stereocilium				breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	8						TGGGCTCGCCCGGGTGTCAGA	0.662													T	140086667	C	T	140086667	3	4	247	1	0	0	0	0	1	0	0	0	16522	652	23	1	106	1	TPRN	9	140086667	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	25754290	140086667	1126764	37	17243											
CACNA1B	774	broad.mit.edu	37	chr9	141012527	141012527	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgtggggcggtcaggAgcactggtgagcactcccgg	6	7	16	12	2	1	1	1	1	0	0	3	2	3	2	2	6	2	2	2	6	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr9:141012527A>T	uc004cog.3	+	41	6046	c.5901A>T	c.(5899-5901)ggA>ggT	p.G1967G	CACNA1B_uc022bqn.1_Silent_p.G1967G|CACNA1B_uc004coi.3_Silent_p.G1181G	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1969					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGCGGTCAGGAGCACTGGTGA	0.642													T	141012527	A	T	141012527	2	4	247	1	0	0	0	0	0	0	0	1	2565	291	11	5		5	CACNA1B	9	141012527	Silent	SNP	A	TCGA-41-3393-01A-01D-1353-08	925860	141012527	200904	38	17244											
TNKS2	80351	broad.mit.edu	37	chr10	93579732	93579732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcaggatataacagaGtaaagattgtacagctgtta	15	10	11	5	0	0	2	0	0	0	2	0	3	0	3	0	2	4	6	0	2	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:93579732G>A	uc001khp.3	+	5	967	c.670G>A	c.(670-672)Gta>Ata	p.V224I		NM_025235	NP_079511	Q9H2K2	TNKS2_HUMAN	Homo sapiens tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2 (TNKS2), mRNA.	224					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				ATATAACAGAGTAAAGATTGT	0.328													A	93579732	G	A	93579732	3	1	247	1	0	0	0	0	1	0	0	0	16421	1029	36	2	692	2	TNKS2	10	93579732	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		93579732	41955015	39	17245											
MKI67	4288	broad.mit.edu	37	chr10	129902650	129902650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatgtccactttcaccaggGgtatcttgagcctttgcttg	6	15	9	11	0	3	1	2	1	1	0	4	1	4	1	3	2	2	2	3	2	1	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr10:129902650G>A	uc001lke.3	-	12	7649	c.7454C>T	c.(7453-7455)cCc>cTc	p.P2485L	MKI67_uc001lkf.3_Missense_Mutation_p.P2125L|MKI67_uc009yav.1_Missense_Mutation_p.P2060L|MKI67_uc009yaw.1_Missense_Mutation_p.P1635L	NM_002417	NP_002408	P46013	KI67_HUMAN	Homo sapiens antigen identified by monoclonal antibody Ki-67 (MKI67), transcript variant 1, mRNA.	2485	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTCACCAGGGGTATCTTGAG	0.473													A	129902650	G	A	129902650	3	1	247	1	0	0	0	0	1	0	0	0	9673	1232	43	2	2328	2	MKI67	10	129902650	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	36322918	129902650	5632097	40	17246											
MUC5B	727897	broad.mit.edu	37	chr11	1156635	1156635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggggacttcaacgggatgCccgtggtcagcgagctcctc	6	8	15	12	3	2	0	2	0	0	0	4	3	3	2	2	4	4	1	2	4	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:1156635C>T	uc021qbr.1	+	5	699	c.652C>T	c.(652-654)Ccc>Tcc	p.P218S				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	214	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACGGGATGCCCGTGGTCAG	0.612													T	1156635	C	T	1156635	3	4	247	1	0	0	0	0	1	0	0	0	10055	754	26	2		2	MUC5B	11	1156635	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		1156635	133849881	41	17247											
BIRC3	330	broad.mit.edu	37	chr11	102195409	102195409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctcgtgctggtttctatTacactggtgtgaatgacaag	8	15	11	7	1	1	2	0	2	1	0	2	2	1	2	0	2	3	3	0	2	4	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:102195409T>C	uc001pgx.3	+	1	2964	c.169T>C	c.(169-171)Tac>Cac	p.Y57H		NM_182962	NP_892007	Q13489	BIRC3_HUMAN	Homo sapiens baculoviral IAP repeat containing 3 (BIRC3), transcript variant 2, mRNA.	57					anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGGTTTCTATTACACTGGTGT	0.438			T	MALT1	MALT								C	102195409	T	C	102195409	3	2	247	1	0	0	0	0	1	0	0	0	1442	1754	61	3	171	3	BIRC3	11	102195409	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	101038774	102195409	32811107	42	17248											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	11	10	10	0	2	0	1	0	2	0	4	0	3	0	2	3	3	4	2	3	4	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr11:128426243A>G	uc001qej.2	-	2	242	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L		NM_001143820	NP_001137292	P14921	ETS1_HUMAN	Homo sapiens v-ets erythroblastosis virus E26 oncogene homolog 1 (avian) (ETS1), transcript variant 1, mRNA.	151	PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.F53F(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448													G	128426243	A	G	128426243	3	3	247	1	0	0	0	0	1	0	0	0	5316	72	3	3	1418	3	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	26230834	128426243	6580273	43	17249											
KCNA5	3741	broad.mit.edu	37	chr12	5153876	5153876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggccgcctgcggaggcCggtcaacgtctccctggacg	4	5	17	15	6	2	0	1	0	1	0	3	2	2	2	4	6	2	0	4	6	1	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:5153876C>T	uc001qni.3	+	0	792	c.563C>T	c.(562-564)cCg>cTg	p.P188L		NM_002234	NP_002225	P22460	KCNA5_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 5 (KCNA5), mRNA.	188				RP -> G (in Ref. 1; AAA61276).		Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.P188L(2)		NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						CTGCGGAGGCCGGTCAACGTC	0.617													T	5153876	C	T	5153876	3	4	247	1	0	0	0	0	1	0	0	0	8064	652	23	1	565	1	KCNA5	12	5153876	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		5153876	128698019	44	17250											
SMARCD1	6602	broad.mit.edu	37	chr12	50484023	50484023	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatactttggttccctgcaGcctccccagtttaaattaga	9	14	6	12	0	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	5	7			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:50484023G>A	uc001rvx.4	+	8	1044	c.874_splice	c.e8-1	p.P292_splice	SMARCD1_uc001rvy.4_Splice_Site_p.P292_splice|SMARCD1_uc009zlp.3_Splice_Site_p.P251_splice	NM_003076	NP_003067	Q96GM5	SMRD1_HUMAN	Homo sapiens SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (SMARCD1), transcript variant 1, mRNA.	292	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.|SWIB.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GTTCCCTGCAGCCTCCCCAGT	0.458													A	50484023	G	A	50484023	5	1	247	1	0	0	0	0	0	0	1	0	14871	985	34	2	903	2	SMARCD1	12	50484023	Splice_Site	SNP	G	TCGA-41-3393-01A-01D-1353-08	45330147	50484023	83367872	45	17251											
LACRT	90070	broad.mit.edu	37	chr12	55025622	55025622	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttttctccactatggaTtctaattttggagcagaaca	12	15	6	8	0	2	1	0	0	2	1	3	3	2	3	1	2	3	1	1	2	4	8			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:55025622T>C	uc001sgi.1	-	4	292	c.254_splice	c.e4-1	p.K85_splice		NM_033277	NP_150593	Q9GZZ8	LACRT_HUMAN	Homo sapiens lacritin (LACRT), mRNA.	85					calcineurin-NFAT signaling pathway|positive regulation of epithelial cell proliferation|positive regulation of NFAT protein import into nucleus|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of secretion|protein localization in Golgi apparatus|tear secretion	extracellular region|stored secretory granule	collagen binding|fibronectin binding|glycoprotein binding|growth factor activity|laminin-1 binding|protein N-terminus binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(1)	10						CCACTATGGATTCTAATTTTG	0.468													C	55025622	T	C	55025622	2	2	247	1	0	0	0	0	0	0	0	1	8655	1507	52	3		3	LACRT	12	55025622	Silent	SNP	T	TCGA-41-3393-01A-01D-1353-08	4541599	55025622	78826273	46	17252											
MYF5	4617	broad.mit.edu	37	chr12	81111227	81111227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctcaggaatgccatcCgctacatcgagagcctgcag	11	7	10	13	2	1	2	1	0	0	2	4	4	3	3	4	1	4	2	4	1	2	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:81111227C>T	uc001szg.2	+	0	520	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_005593	NP_005584	P13349	MYF5_HUMAN	Homo sapiens myogenic factor 5 (MYF5), mRNA.	129	Helix-loop-helix motif.				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	p.R129S(2)|p.R129C(2)		central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GAATGCCATCCGCTACATCGA	0.587													T	81111227	C	T	81111227	3	4	247	1	0	0	0	0	1	0	0	0	10103	652	23	1	387	1	MYF5	12	81111227	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	26085605	81111227	52740668	47	17253											
TMEM132D	121256	broad.mit.edu	37	chr12	129558604	129558604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacccttttcctttttgagGtaggggatgttgggggctca	5	16	13	7	0	1	1	1	1	0	0	2	2	2	2	2	5	1	3	2	5	2	7			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr12:129558604G>A	uc009zyl.1	-	8	3444	c.3116C>T	c.(3115-3117)aCc>aTc	p.T1039I	TMEM132D_uc001uia.2_Missense_Mutation_p.T577I	NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	1039						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCTTTTTGAGGTAGGGGATGT	0.488													A	129558604	G	A	129558604	3	1	247	1	0	0	0	0	1	0	0	0	16147	1261	44	2	187	2	TMEM132D	12	129558604	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	48447377	129558604	4293291	48	17254											
HECTD1	25831	broad.mit.edu	37	chr14	31675061	31675061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgcatagctgttcaaGggctattagttgcatgtccc	9	12	10	10	0	1	0	1	0	0	0	2	0	2	0	1	1	4	7	1	1	4	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:31675061G>A	uc001wrc.1	-	1	571	c.82C>T	c.(82-84)Ctt>Ttt	p.L28F	HECTD1_uc001wre.3_Non-coding_Transcript	NM_015382	NP_056197	Q9ULT8	HECD1_HUMAN	Homo sapiens HECT domain containing 1 (HECTD1), mRNA.	28					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AGCTGTTCAAGGGCTATTAGT	0.428													A	31675061	G	A	31675061	3	1	247	1	0	0	0	0	1	0	0	0	7094	1000	35	2	7918	2	HECTD1	14	31675061	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		31675061	75674479	49	17255											
ARHGAP5	394	broad.mit.edu	37	chr14	32561946	32561946	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagaaaagataaatacAtggctaatcttccatttaca	18	11	5	7	0	2	3	1	0	1	3	3	3	3	3	1	1	2	1	1	1	7	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:32561946A>T	uc001wrl.3	+	1	2310	c.2071A>T	c.(2071-2073)Atg>Ttg	p.M691L	ARHGAP5_uc001wrm.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wrn.3_Missense_Mutation_p.M691L|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	691					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGATAAATACATGGCTAATCT	0.358													T	32561946	A	T	32561946	3	4	247	1	0	0	0	0	1	0	0	0	889	217	8	5	2073	5	ARHGAP5	14	32561946	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	886885	32561946	74787594	50	17256											
DICER1	23405	broad.mit.edu	37	chr14	95590756	95590756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatatggtttatatttgcGtaagatttcgagcagtttga	10	17	9	5	2	1	2	1	1	0	1	2	3	1	2	0	1	2	4	0	1	4	8			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr14:95590756G>A	uc001ydw.2	-	8	1365	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	DICER1_uc021sbc.1_Missense_Mutation_p.R385C|DICER1_uc001ydv.2_Missense_Mutation_p.R375C|DICER1_uc001ydx.2_Missense_Mutation_p.R385C	NM_030621	NP_803187	Q9UPY3	DICER_HUMAN	Homo sapiens dicer 1, ribonuclease type III (DICER1), transcript variant 2, mRNA.	385	Required for interaction with PRKRA and TARBP2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		TTATATTTGCGTAAGATTTCG	0.378			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				A	95590756	G	A	95590756	3	1	247	1	0	0	0	0	1	0	0	0	4560	1145	40	1	4695	1	DICER1	14	95590756	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	63028810	95590756	11758784	51	17257											
GABRA5	2558	broad.mit.edu	37	chr15	27128491	27128491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctttccactaggagtacaCcatagacgtgtttttccgac	9	13	7	12	2	0	1	0	0	0	1	3	3	3	2	4	1	1	2	4	1	3	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:27128491C>A	uc001zbd.2	+	5	816	c.284C>A	c.(283-285)aCc>aAc	p.T95N	GABRB3_uc001zbb.3_Intron|GABRA5_uc021sgi.1_Missense_Mutation_p.T95N	NM_000810	NP_001158509	P31644	GBRA5_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 5 (GABRA5), transcript variant 1, mRNA.	95					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TAGGAGTACACCATAGACGTG	0.592													A	27128491	C	A	27128491	3	1	247	1	0	0	0	0	1	0	0	0	6216	507	18	4	298	4	GABRA5	15	27128491	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		27128491	75402901	52	17258											
ALPK3	57538	broad.mit.edu	37	chr15	85407896	85407896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtcacagacttggcaGgtacgagggtgtgagggtgc	7	10	16	8	1	1	2	1	1	0	1	2	3	2	2	1	4	2	2	1	4	1	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr15:85407896G>A	uc002ble.3	+	12	5496	c.5329_splice	c.e12+1	p.G1777_splice	ALPK3_uc010upc.2_Splice_Site_p.G78_splice	NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	1777	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGACTTGGCAGGTACGAGGGT	0.537													A	85407896	G	A	85407896	3	1	247	1	0	0	0	0	1	0	0	0	546	1014	35	2	5375	2	ALPK3	15	85407896	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	58279405	85407896	17123496	53	17259											
PLEKHG4	25894	broad.mit.edu	37	chr16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgccgctgggcctgggCgcggtgccaggacacctggc	4	5	19	13	3	0	0	0	0	0	0	0	2	0	2	4	6	2	1	4	6	0	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr16:67318812C>T	uc010cef.3	+	12	2188	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_uc002eso.4_Missense_Mutation_p.A630V|PLEKHG4_uc002esp.4_Missense_Mutation_p.A437V|PLEKHG4_uc002esq.4_Missense_Mutation_p.A630V|PLEKHG4_uc002ess.4_Missense_Mutation_p.A630V|PLEKHG4_uc010ceg.3_Missense_Mutation_p.A549V	NM_001129728	NP_056247	Q58EX7	PKHG4_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4 (PLEKHG4), transcript variant 3, mRNA.	630					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662													T	67318812	C	T	67318812	3	4	247	1	0	0	0	0	1	0	0	0	12148	768	27	1	1935	1	PLEKHG4	16	67318812	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		67318812	23035941	54	17260											
CCDC42	146849	broad.mit.edu	37	chr17	8638565	8638565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctggatgtgcgcccagCgagattcctggagagtggat	7	11	15	8	2	1	2	0	0	1	2	2	6	2	4	2	3	2	1	2	3	0	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:8638565C>T	uc002gln.3	-	5	949	c.722G>A	c.(721-723)cGc>cAc	p.R241H	CCDC42_uc002glo.3_Missense_Mutation_p.R167H	NM_144681	NP_653282	Q96M95	CCD42_HUMAN	Homo sapiens coiled-coil domain containing 42 (CCDC42), transcript variant 1, mRNA.	241										kidney(1)|large_intestine(4)|lung(3)|ovary(1)	9						GTGCGCCCAGCGAGATTCCTG	0.562													T	8638565	C	T	8638565	3	4	247	1	0	0	0	0	1	0	0	0	2841	768	27	1	236	1	CCDC42	17	8638565	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		8638565	72556645	55	17261											
CDC27	996	broad.mit.edu	37	chr17	45247352	45247352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagtaacaatatcatcaTggcttttctgcttattaaac	13	15	4	9	0	4	0	3	0	1	0	4	0	4	0	0	1	3	3	0	1	6	6			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr17:45247352T>C	uc002ile.4	-	3	435	c.308A>G	c.(307-309)cAt>cGt	p.H103R	CDC27_uc002ild.4_Missense_Mutation_p.H103R|CDC27_uc002ilf.4_Missense_Mutation_p.H103R|CDC27_uc010wkp.2_Missense_Mutation_p.H42R|CDC27_uc010wkq.1_Non-coding_Transcript	NM_001114091	NP_001107563	P30260	CDC27_HUMAN	Homo sapiens cell division cycle 27 homolog (S. cerevisiae) (CDC27), transcript variant 1, mRNA.	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.S102S(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						AATATCATCATGGCTTTTCTG	0.308													C	45247352	T	C	45247352	3	2	247	1	0	0	0	0	1	0	0	0	3096	1464	51	3	2248	3	CDC27	17	45247352	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	36608787	45247352	35947858	56	17262											
ESCO1	114799	broad.mit.edu	37	chr18	19154087	19154087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcagaagttacaggcaCaggtttcgtttcgtctcttc	8	13	8	12	2	2	1	1	0	1	1	6	1	2	1	1	2	1	4	1	2	2	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:19154087C>T	uc002kth.1	-	3	1652	c.718G>A	c.(718-720)Gtg>Atg	p.V240M	ESCO1_uc002kti.1_Non-coding_Transcript	NM_052911	NP_443143	Q5FWF5	ESCO1_HUMAN	Homo sapiens establishment of cohesion 1 homolog 1 (S. cerevisiae) (ESCO1), mRNA.	240					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						GTTACAGGCACAGGTTTCGTT	0.418													T	19154087	C	T	19154087	3	4	247	1	0	0	0	0	1	0	0	0	5289	478	17	2	1840	2	ESCO1	18	19154087	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08		19154087	58923161	57	17263											
NETO1	81832	broad.mit.edu	37	chr18	70450913	70450913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagtgcagagaatcttacGttcttgaaaggatgtgaaga	14	11	11	5	1	3	4	1	2	2	2	3	6	3	5	0	1	2	2	0	1	5	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr18:70450913G>A	uc002lkw.3	-	7	1152	c.868_splice	c.e7+1	p.P290_splice	NETO1_uc002lky.2_Splice_Site_p.P290_splice	NM_001201465	NP_001188394	Q8TDF5	NETO1_HUMAN	Homo sapiens neuropilin (NRP) and tolloid (TLL)-like 1 (NETO1), transcript variant 4, mRNA.	290					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AGAATCTTACGTTCTTGAAAG	0.458													A	70450913	G	A	70450913	3	1	247	1	0	0	0	0	1	0	0	0	10415	1159	40	1	749	1	NETO1	18	70450913	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	51296826	70450913	7626335	58	17264											
MUC16	94025	broad.mit.edu	37	chr19	9088222	9088222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttggtgtcaaggaagtcGtggaaggtaagttgggcatg	10	11	16	4	1	1	0	1	0	0	0	2	2	1	2	0	5	1	3	0	5	5	4	rs145987902	by1000genomes	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:9088222G>A	uc002mkp.3	-	0	3797	c.3593C>T	c.(3592-3594)aCg>aTg	p.T1198M		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	1198	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						CAAGGAAGTCGTGGAAGGTAA	0.473													A	9088222	G	A	9088222	3	1	247	1	0	0	0	0	1	0	0	0	10049	1145	40	1	40266	1	MUC16	19	9088222	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		9088222	50040761	59	17265											
CPAMD8	27151	broad.mit.edu	37	chr19	17039895	17039895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgatgcccccccaggaCgatctcgatcatgcctgctg	6	10	10	15	2	3	1	1	1	2	0	4	4	3	2	4	1	3	2	4	1	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:17039895C>T	uc002nfb.3	-	23	3174	c.3142G>A	c.(3142-3144)Gtc>Atc	p.V1048I		NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1001						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.V1048I(2)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCCCCCAGGACGATCTCGATC	0.607													T	17039895	C	T	17039895	3	4	247	1	0	0	0	0	1	0	0	0	3826	536	19	1	2732	1	CPAMD8	19	17039895	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	7951673	17039895	42089088	60	17266											
ZNF181	339318	broad.mit.edu	37	chr19	35232834	35232839	+	In_Frame_Del	DEL	ATATAA	ATATAA	-																															attcacactggagaaaagccAtataaatgtaatgagtgtgg																										TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:35232834_35232839delATATAA	uc002nvu.3	+	3	2011_2016	c.1548_1553delATATAA	c.(1546-1554)ccatataaa>cca	p.YK517del	ZNF181_uc010xsb.1_In_Frame_Del_p.YK516del|ZNF181_uc010xsc.1_In_Frame_Del_p.YK452del	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			GAGAAAAGCCATATAAATGTAATGAG	0.388													-	35232839	ATATAA	-	35232834	7	5	247	1	0	1	0	1	0	0	0	0	17850	204	8	0	1562	0	ZNF181	19	35232834	In_Frame_Del	DEL	ATATAA	TCGA-41-3393-01A-01D-1353-08	18192939	35232834	23896149	61	17267											
UPK1A	11045	broad.mit.edu	37	chr19	36159540	36159540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcactctgccgccgccGgtccatggtcctcacggtga	4	8	12	17	5	2	1	1	1	1	0	4	1	4	1	6	3	2	1	6	3	0	0	rs111275297		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:36159540G>A	uc010eeh.3	+	1	269	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	UPK1A_uc002oaw.3_Missense_Mutation_p.R90Q|BC007817_uc002oax.1_Missense_Mutation_p.R3W			O00322	UPK1A_HUMAN	Homo sapiens uroplakin 1A (UPK1A), mRNA.	90					epithelial cell differentiation|protein oligomerization	endoplasmic reticulum|integral to membrane	monosaccharide binding|protein homodimerization activity			breast(1)|large_intestine(4)|lung(2)|stomach(2)	9	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCCGCCGCCGGTCCATGGTC	0.592													A	36159540	G	A	36159540	3	1	247	1	0	0	0	0	1	0	0	0	17109	1116	39	1	275	1	UPK1A	19	36159540	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	926706	36159540	22969443	62	17268											
GPR77	27202	broad.mit.edu	37	chr19	47844750	47844750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcagcccgacgctgcCggccgctgggcacagccatt	5	5	15	16	4	0	0	0	0	0	0	0	1	0	0	4	3	3	5	4	3	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:47844750C>T	uc002pgk.1	+	1	765	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W	GPR77_uc010ela.1_Missense_Mutation_p.R232W|GPR77_uc021uwn.1_Missense_Mutation_p.R232W	NM_018485	NP_060955	Q9P296	C5ARL_HUMAN	Homo sapiens G protein-coupled receptor 77 (GPR77), mRNA.	232					chemotaxis	integral to membrane|plasma membrane	C5a anaphylatoxin receptor activity	p.R232R(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(25;1.72e-06)|all_lung(116;2.15e-05)|all_epithelial(76;3.44e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.0652)|Ovarian(192;0.086)		all cancers(93;0.000129)|OV - Ovarian serous cystadenocarcinoma(262;0.000415)|Epithelial(262;0.0109)|GBM - Glioblastoma multiforme(486;0.0138)		CCGACGCTGCCGGCCGCTGGG	0.672													T	47844750	C	T	47844750	3	4	247	1	0	0	0	0	1	0	0	0	6763	643	23	1	696	1	GPR77	19	47844750	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	11685210	47844750	11284233	63	17269											
ELSPBP1	64100	broad.mit.edu	37	chr19	48519291	48519291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtggaaattctgtgaaaCgaatggtgagcccctgtagc	11	9	13	8	1	1	2	0	2	1	0	1	4	1	3	2	2	3	2	2	2	4	2	rs145971035		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:48519291C>T	uc002pht.3	+	3	528	c.350C>T	c.(349-351)aCg>aTg	p.T117M		NM_022142	NP_071425	Q96BH3	ESPB1_HUMAN	Homo sapiens epididymal sperm binding protein 1 (ELSPBP1), mRNA.	117	Fibronectin type-II 2.				single fertilization	extracellular region				NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(6)	10		all_cancers(25;8.7e-09)|all_lung(116;1.15e-06)|all_epithelial(76;1.17e-06)|Lung NSC(112;2.56e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000253)|all cancers(93;0.00129)|Epithelial(262;0.0314)|GBM - Glioblastoma multiforme(486;0.0606)		TTCTGTGAAACGAATGGTGAG	0.552													T	48519291	C	T	48519291	3	4	247	1	0	0	0	0	1	0	0	0	5124	536	19	1	360	1	ELSPBP1	19	48519291	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	674541	48519291	10609692	64	17270											
DKKL1	27120	broad.mit.edu	37	chr19	49867863	49867863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgcccccgcaaggcGgcatctgctggtcctgctgc	4	7	11	19	2	1	0	0	0	1	0	2	0	2	0	5	3	4	4	5	3	1	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:49867863G>A	uc002pnk.3	+	1	249	c.35G>A	c.(34-36)cGg>cAg	p.R12Q	TEAD2_uc002pni.3_5'Flank|TEAD2_uc002pnj.3_5'Flank|TEAD2_uc010yao.2_5'Flank|TEAD2_uc010emw.3_5'Flank|DKKL1_uc021uxk.1_5'UTR|DKKL1_uc021uxl.1_Missense_Mutation_p.R12Q	NM_014419	NP_001184231	Q9UK85	DKKL1_HUMAN	Homo sapiens dickkopf-like 1 (DKKL1), transcript variant 1, mRNA.	12					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		CCCGCAAGGCGGCATCTGCTG	0.672													A	49867863	G	A	49867863	3	1	247	1	0	0	0	0	1	0	0	0	4587	1116	39	1	41	1	DKKL1	19	49867863	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	1348572	49867863	9261120	65	17271											
C19orf75	284369	broad.mit.edu	37	chr19	51768774	51768774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcctccaagtgactTccaccatgcttggcccctgg	7	9	10	15	0	0	1	0	1	0	0	2	1	2	1	6	3	2	2	6	3	1	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr19:51768774T>A	uc002pwb.1	+	2	556	c.175T>A	c.(175-177)Tcc>Acc	p.S59T	C19orf75_uc010eov.1_Intron|C19orf75_uc010ycw.1_Intron	NM_173635	NP_775906	Q8N7X8	CS075_HUMAN	Homo sapiens chromosome 19 open reading frame 75 (C19orf75), mRNA.	59						integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)	18						CCAAGTGACTTCCACCATGCT	0.567													A	51768774	T	A	51768774	3	1	247	1	0	0	0	0	1	0	0	0	1969	1783	62	5	181	5	C19orf75	19	51768774	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	1900911	51768774	7360209	66	17272											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674185	3674185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtggcatccctgactgtGacgttgggcagggggatgga	7	8	19	7	1	0	2	0	2	0	0	1	5	1	4	1	6	0	3	1	6	0	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:3674185G>A	uc002wja.3	-	12	3417	c.3417C>T	c.(3415-3417)gtC>gtT	p.V1139V	SIGLEC1_uc002wiz.4_Silent_p.V1139V|SIGLEC1_uc002wjb.1_5'Flank	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	1139	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCTGACTGTGACGTTGGGCA	0.657													A	3674185	G	A	3674185	2	1	247	1	0	0	0	0	0	0	0	1	14399	1277	45	2		2	SIGLEC1	20	3674185	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08		3674185	59351335	67	17273											
SRC	6714	broad.mit.edu	37	chr20	36026230	36026230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggtcaagctgggcCagggctgctttggcgaggtg	5	8	20	8	1	1	0	1	0	0	0	1	2	1	1	1	7	2	4	1	7	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:36026230C>G	uc002xgx.3	+	8	1281	c.832C>G	c.(832-834)Cag>Gag	p.Q278E	SRC_uc002xgy.3_Missense_Mutation_p.Q278E	NM_005417	NP_938033	P12931	SRC_HUMAN	Homo sapiens v-src sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog (avian) (SRC), transcript variant 1, mRNA.	278	Protein kinase.				axon guidance|bone resorption|cell junction assembly|cellular membrane organization|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular protein kinase cascade|leukocyte migration|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of integrin activation|Ras protein signal transduction|regulation of bone resorption|regulation of vascular permeability|response to interleukin-1|signal complex assembly|T cell costimulation	caveola|cytosol|mitochondrial inner membrane	ATP binding|heme binding|integrin binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|SH3/SH2 adaptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(16)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)			Dasatinib(DB01254)	CAAGCTGGGCCAGGGCTGCTT	0.697													G	36026230	C	G	36026230	3	3	247	1	0	0	0	0	1	0	0	0	15230	595	21	4	854	4	SRC	20	36026230	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	32352045	36026230	26999290	68	17274											
PTPRT	11122	broad.mit.edu	37	chr20	40713368	40713368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgtcatactgctcctGccacttctccagtcgtcgga	5	11	7	18	3	2	0	1	0	1	0	7	1	4	1	5	1	3	1	5	1	1	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:40713368G>T	uc002xkg.3	-	28	4274	c.4090C>A	c.(4090-4092)Cag>Aag	p.Q1364K	PTPRT_uc010ggj.3_Missense_Mutation_p.Q1383K|PTPRT_uc010ggi.3_Missense_Mutation_p.Q567K	NM_007050	NP_008981	O14522	PTPRT_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, T (PTPRT), transcript variant 2, mRNA.	1364	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity	p.A1364A(1)		NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TACTGCTCCTGCCACTTCTCC	0.597													T	40713368	G	T	40713368	3	4	247	1	0	0	0	0	1	0	0	0	12900	1328	46	4	247	4	PTPRT	20	40713368	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	4687138	40713368	22312152	69	17275											
DIDO1	11083	broad.mit.edu	37	chr20	61511189	61511189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggcccggcctcctcccagCggtccttccggtgctgcggg	1	7	15	18	5	0	0	0	0	0	0	4	0	4	0	6	5	3	1	6	5	0	1	rs143474883		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr20:61511189C>T	uc002ydr.2	-	15	6431	c.6119G>A	c.(6118-6120)cGc>cAc	p.R2040H	DIDO1_uc002yds.2_Missense_Mutation_p.R2040H	NM_001193369	NP_149072	Q9BTC0	DIDO1_HUMAN	Homo sapiens death inducer-obliterator 1 (DIDO1), transcript variant 5, mRNA.	2040					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CTCCTCCCAGCGGTCCTTCCG	0.741													T	61511189	C	T	61511189	3	4	247	1	0	0	0	0	1	0	0	0	4561	768	27	1	607	1	DIDO1	20	61511189	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	20797821	61511189	1514331	70	17276											
PRAME	23532	broad.mit.edu	37	chr22	22891015	22891015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcatcacatccccttccGaaagccggcagttagttatt	10	11	8	12	2	1	0	1	0	0	0	3	2	3	0	4	1	2	4	4	1	3	4			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:22891015G>A	uc002zwf.3	-	4	1160	c.1004C>T	c.(1003-1005)tCg>tTg	p.S335L	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|PRAME_uc011air.2_Missense_Mutation_p.S319L|PRAME_uc010gtr.3_Missense_Mutation_p.S335L|PRAME_uc002zwg.3_Missense_Mutation_p.S335L|PRAME_uc002zwh.3_Missense_Mutation_p.S335L|PRAME_uc002zwi.3_Missense_Mutation_p.S335L|PRAME_uc002zwj.3_Missense_Mutation_p.S335L|PRAME_uc002zwk.3_Missense_Mutation_p.S335L	NM_206956	NP_996839	P78395	PRAME_HUMAN	Homo sapiens preferentially expressed antigen in melanoma (PRAME), transcript variant 5, mRNA.	335					apoptosis|cell differentiation|negative regulation of apoptosis|negative regulation of cell differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|regulation of growth|transcription, DNA-dependent	nucleus|plasma membrane	retinoic acid receptor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)|all_lung(157;4.03e-05)		READ - Rectum adenocarcinoma(21;0.0649)		ATCCCCTTCCGAAAGCCGGCA	0.542													A	22891015	G	A	22891015	3	1	247	1	0	0	0	0	1	0	0	0	12506	1059	37	1	529	1	PRAME	22	22891015	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08		22891015	28413551	71	17277											
ELFN2	114794	broad.mit.edu	37	chr22	37769438	37769438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctcgtagtacagggcggGaaagctgtgccggtgctcgc	6	8	15	12	4	0	0	0	0	0	0	3	1	1	1	2	3	4	4	2	3	3	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:37769438G>A	uc003asq.4	-	2	2923	c.2137C>T	c.(2137-2139)Ccc>Tcc	p.P713S	ELFN2_uc021wph.1_Missense_Mutation_p.P713S	NM_052906	NP_443138	Q5R3F8	LRFN6_HUMAN	Homo sapiens extracellular leucine-rich repeat and fibronectin type III domain containing 2 (ELFN2), mRNA.	713						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)					TACAGGGCGGGAAAGCTGTGC	0.711													A	37769438	G	A	37769438	3	1	247	1	0	0	0	0	1	0	0	0	5099	1174	41	2	329	2	ELFN2	22	37769438	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	14878423	37769438	13535128	72	17278											
ENTHD1	150350	broad.mit.edu	37	chr22	40283672	40283672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagagggaccccaagggtcGttagaagttgcttccctgac	9	9	12	11	1	0	3	0	1	0	2	2	4	1	4	3	2	1	3	3	2	4	4	rs146928757		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:40283672G>A	uc003ayg.3	-	1	332	c.81C>T	c.(79-81)aaC>aaT	p.N27N		NM_152512	NP_689725	Q8IYW4	ENTD1_HUMAN	Homo sapiens ENTH domain containing 1 (ENTHD1), mRNA.	27	ENTH.							p.N27N(2)		breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					CCCAAGGGTCGTTAGAAGTTG	0.398													A	40283672	G	A	40283672	2	1	247	1	0	0	0	0	0	0	0	1	5178	1136	40	1		1	ENTHD1	22	40283672	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	2514234	40283672	11020894	73	17279											
ARSA	410	broad.mit.edu	37	chr22	51063597	51063597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatggggatctgggcaatgGcagcaagctgggcggggggt	7	6	21	7	1	1	0	0	0	1	0	1	1	1	1	0	8	2	5	0	8	2	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chr22:51063597G>A	uc003bna.4	-	7	1510	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C	ARSA_uc021wsd.1_Silent_p.C502C|ARSA_uc021wse.1_Silent_p.C502C|ARSA_uc021wsf.1_Silent_p.C502C|ARSA_uc003bmz.4_Silent_p.C500C	NM_001085428	NP_001078897	P15289	ARSA_HUMAN	Homo sapiens arylsulfatase A (ARSA), transcript variant 5, mRNA.	500						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	CTGGGCAATGGCAGCAAGCTG	0.701													A	51063597	G	A	51063597	2	1	247	1	0	0	0	0	0	0	0	1	992	1195	42	2		2	ARSA	22	51063597	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	10779925	51063597	240969	74	17280											
IL3RA	3563	broad.mit.edu	37	chrX	1471117	1471117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtacgacctgtacttgaaCgttgccaagtaggtgtgccc	9	10	11	11	2	0	1	0	1	0	0	0	2	0	1	3	1	5	4	3	1	5	5	rs142385163	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:1471117C>T	uc004cps.3	+	4	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	CRLF2_uc022brt.1_Intron|IL3RA_uc011mhd.2_Silent_p.N63N	NM_002183	NP_002174	P26951	IL3RA_HUMAN	Homo sapiens interleukin 3 receptor, alpha (low affinity) (IL3RA), mRNA.	141						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													T	1471117	C	T	1471117	2	4	247	1	0	0	0	0	0	0	0	1	7753	535	19	1		1	IL3RA	23	1471117	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08		1471117	153799443	75	17281											
ARSE	415	broad.mit.edu	37	chrX	2867414	2867414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcacatgggctgctccGtgatggtgtggtttctcatc	6	12	14	9	1	1	1	1	1	1	0	4	2	2	2	1	4	2	4	1	4	1	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:2867414G>A	uc011mhh.2	-	6	1321	c.860C>T	c.(859-861)aCg>aTg	p.T287M	ARSE_uc011mhi.2_Missense_Mutation_p.T208M|ARSE_uc004crc.4_Missense_Mutation_p.T262M			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	262					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCTGCTCCGTGATGGTGTG	0.532													A	2867414	G	A	2867414	3	1	247	1	0	0	0	0	1	0	0	0	995	1145	40	1	1008	1	ARSE	23	2867414	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	1396297	2867414	152403146	76	17282											
GPR143	4935	broad.mit.edu	37	chrX	9693807	9693807	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cataggtctccatgggttggGagagcagggtcaccctcatt	8	10	13	10	0	3	1	2	0	1	1	4	2	3	1	2	4	1	2	2	4	1	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:9693807G>C	uc004cst.2	-	8	1342	c.1194C>G	c.(1192-1194)ctC>ctG	p.L398L		NM_000273	NP_000264	P51810	GP143_HUMAN	Homo sapiens G protein-coupled receptor 143 (GPR143), mRNA.	398					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CATGGGTTGGGAGAGCAGGGT	0.473													C	9693807	G	C	9693807	2	2	247	1	0	0	0	0	0	0	0	1	6705	1161	41	4		4	GPR143	23	9693807	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	6826393	9693807	145576753	77	17283											
FRMPD4	9758	broad.mit.edu	37	chrX	12735884	12735884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccagcaaccgacctccCgcccaaagttgtgccttcca	9	7	8	17	2	0	0	0	0	0	0	2	1	2	0	7	1	3	2	7	1	3	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:12735884C>T	uc004cuz.2	+	15	3445	c.2939C>T	c.(2938-2940)cCg>cTg	p.P980L	FRMPD4_uc011mij.2_Missense_Mutation_p.P972L	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	980					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACCGACCTCCCGCCCAAAGTT	0.572													T	12735884	C	T	12735884	3	4	247	1	0	0	0	0	1	0	0	0	6111	652	23	1	3001	1	FRMPD4	23	12735884	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	3042077	12735884	142534676	78	17284											
FTSJ1	24140	broad.mit.edu	37	chrX	48337447	48337447	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccactgccaaggagatcAtccagcactttaagggctgc	10	9	10	12	0	1	1	1	0	0	1	3	2	3	1	3	2	3	2	3	2	2	2	rs75296308	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48337447A>T	uc004djo.1	+	4	627	c.304A>T	c.(304-306)Atc>Ttc	p.I102F	FTSJ1_uc004djn.1_Missense_Mutation_p.I102F|FTSJ1_uc011mlw.1_5'UTR	NM_012280	NP_036412	Q9UET6	RRMJ1_HUMAN	Homo sapiens FtsJ homolog 1 (E. coli) (FTSJ1), transcript variant 1, mRNA.	102					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CAAGGAGATCATCCAGCACTT	0.632													T	48337447	A	T	48337447	3	4	247	1	0	0	0	0	1	0	0	0	6139	217	8	5	318	5	FTSJ1	23	48337447	Missense_Mutation	SNP	A	TCGA-41-3393-01A-01D-1353-08	35601563	48337447	106933113	79	17285											
PORCN	64840	broad.mit.edu	37	chrX	48374470	48374470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccggaagcgcctggctcGgatcctcagtgcctgtgtct	4	10	12	15	3	2	0	1	0	1	0	5	2	4	2	5	3	2	1	5	3	1	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:48374470G>A	uc010nie.1	+	12	1267	c.1109G>A	c.(1108-1110)cGg>cAg	p.R370Q	PORCN_uc004djr.1_Missense_Mutation_p.R365Q|PORCN_uc004djs.1_Missense_Mutation_p.R359Q|PORCN_uc011mlx.1_Missense_Mutation_p.R288Q|PORCN_uc004dju.1_Missense_Mutation_p.R228Q|PORCN_uc004djv.1_Missense_Mutation_p.R370Q|PORCN_uc004djw.1_Missense_Mutation_p.R364Q	NM_203475	NP_982301	Q9H237	PORCN_HUMAN	Homo sapiens porcupine homolog (Drosophila) (PORCN), transcript variant D, mRNA.	370					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CGCCTGGCTCGGATCCTCAGT	0.627													A	48374470	G	A	48374470	3	1	247	1	0	0	0	0	1	0	0	0	12335	1116	39	1	1155	1	PORCN	23	48374470	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	37023	48374470	106896090	80	17286											
TSR2	90121	broad.mit.edu	37	chrX	54467162	54467162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgggggtgtgcacagccagGagaaggccaagtggctgggg	8	5	20	8	1	0	1	0	0	0	1	1	2	0	1	2	7	2	2	2	7	2	0			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:54467162G>A	uc004dte.3	+	1	123	c.121G>A	c.(121-123)Gag>Aag	p.E41K	TSR2_uc004dtf.3_Intron	NM_058163	NP_477511	Q969E8	TSR2_HUMAN	Homo sapiens TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) (TSR2), mRNA.	41					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						GCACAGCCAGGAGAAGGCCAA	0.607													A	54467162	G	A	54467162	3	1	247	1	0	0	0	0	1	0	0	0	16766	1175	41	2	127	2	TSR2	23	54467162	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	6092692	54467162	100803398	81	17287											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721735	64721735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggccaaccaaccccagcGttcggtggctgatgagctcc	7	6	13	15	3	0	2	0	2	0	0	2	2	1	2	5	3	4	3	5	3	2	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:64721735G>A	uc010nko.3	+	4	1224	c.1157G>A	c.(1156-1158)cGt>cAt	p.R386H		NM_001010888	NP_001010888	Q5HYM0	ZC12B_HUMAN	Homo sapiens zinc finger CCCH-type containing 12B (ZC3H12B), mRNA.	375							endonuclease activity|nucleic acid binding|zinc ion binding	p.R236H(1)|p.R322H(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCCCAGCGTTCGGTGGCT	0.532													A	64721735	G	A	64721735	3	1	247	1	0	0	0	0	1	0	0	0	17663	1145	40	1	1175	1	ZC3H12B	23	64721735	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	10254573	64721735	90548825	82	17288											
SLC7A3	84889	broad.mit.edu	37	chrX	70147393	70147393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgtgccggtgtggatcCgagcaagtacacggaacagg	9	7	16	9	4	0	0	0	0	0	0	1	3	1	2	2	4	5	2	2	4	3	1			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:70147393C>T	uc004dyn.3	-	6	1298	c.1124G>A	c.(1123-1125)cGg>cAg	p.R375Q	SLC7A3_uc004dyo.3_Missense_Mutation_p.R375Q	NM_032803	NP_116192	Q8WY07	CTR3_HUMAN	Homo sapiens solute carrier family 7 (cationic amino acid transporter, y+ system), member 3 (SLC7A3), transcript variant 1, mRNA.	375					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GGTGTGGATCCGAGCAAGTAC	0.577													T	70147393	C	T	70147393	3	4	247	1	0	0	0	0	1	0	0	0	14792	652	23	1	759	1	SLC7A3	23	70147393	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	5425658	70147393	85123167	83	17289											
RAB40A	142684	broad.mit.edu	37	chrX	102755508	102755508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcttcacccgctggccGtccagcaggatggtggtcgt	5	10	13	13	3	2	0	2	0	0	0	4	1	3	1	3	4	2	3	3	4	0	2			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:102755508G>A	uc022cbs.1	-	0	177	c.177C>T	c.(175-177)gaC>gaT	p.D59D	RAB40A_uc004ekk.3_Silent_p.D59D	NM_080879	NP_543155	Q8WXH6	RB40A_HUMAN	Homo sapiens RAB40A, member RAS oncogene family (RAB40A), mRNA.	59					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CCCGCTGGCCGTCCAGCAGGA	0.587													A	102755508	G	A	102755508	2	1	247	1	0	0	0	0	0	0	0	1	13027	1136	40	1		1	RAB40A	23	102755508	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	32608115	102755508	52515052	84	17290											
NRK	203447	broad.mit.edu	37	chrX	105179166	105179166	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttacatctttgcagtataCgctggattcgtagaagtacc	10	13	8	10	2	1	1	0	0	1	1	2	2	1	2	2	1	4	5	2	1	6	7	rs56273831		TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105179166C>T	uc004emd.3	+	20	3807	c.3504C>T	c.(3502-3504)taC>taT	p.Y1168Y	NRK_uc010npc.1_Silent_p.Y836Y	NM_198465	NP_940867	Q7Z2Y5	NRK_HUMAN	Homo sapiens Nik related kinase (NRK), mRNA.	1168							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.Y1168C(1)		breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTGCAGTATACGCTGGATTCG	0.383										HNSCC(51;0.14)			T	105179166	C	T	105179166	2	4	247	1	0	0	0	0	0	0	0	1	10731	547	19	1		1	NRK	23	105179166	Silent	SNP	C	TCGA-41-3393-01A-01D-1353-08	2423658	105179166	50091394	85	17291											
RNF128	79589	broad.mit.edu	37	chrX	105970562	105970562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttatgagagaggggCgtctggagccgtcatcttta	7	12	14	8	2	4	2	1	1	3	1	4	4	4	3	1	4	1	1	1	4	2	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:105970562C>T	uc004eml.3	+	0	669	c.419C>T	c.(418-420)gCg>gTg	p.A140V	RNF128_uc004emk.3_Intron	NM_194463	NP_919445	Q8TEB7	RN128_HUMAN	Homo sapiens ring finger protein 128 (RNF128), transcript variant 1, mRNA.	140	PA.					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GAGAGAGGGGCGTCTGGAGCC	0.597													T	105970562	C	T	105970562	3	4	247	1	0	0	0	0	1	0	0	0	13527	768	27	1	831	1	RNF128	23	105970562	Missense_Mutation	SNP	C	TCGA-41-3393-01A-01D-1353-08	791396	105970562	49299998	86	17292											
DOCK11	139818	broad.mit.edu	37	chrX	117748686	117748686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaatggatagaggatttaTtttcaatttaataaatgact	16	16	6	3	0	1	2	1	1	0	1	1	4	1	4	0	2	0	0	0	2	7	9			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:117748686T>C	uc004eqp.2	+	28	3191	c.3128T>C	c.(3127-3129)aTt>aCt	p.I1043T	DOCK11_uc004eqq.2_Missense_Mutation_p.I809T	NM_144658	NP_653259	Q5JSL3	DOC11_HUMAN	Homo sapiens dedicator of cytokinesis 11 (DOCK11), mRNA.	1043					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGAGGATTTATTTTCAATTTA	0.299													C	117748686	T	C	117748686	3	2	247	1	0	0	0	0	1	0	0	0	4725	1493	52	3	3242	3	DOCK11	23	117748686	Missense_Mutation	SNP	T	TCGA-41-3393-01A-01D-1353-08	11778124	117748686	37521874	87	17293											
USP26	83844	broad.mit.edu	37	chrX	132161937	132161937	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacaggtggctgaacctcGttttgatgaactctgtccaa	9	12	9	11	1	2	3	1	3	1	0	4	3	3	3	2	2	2	2	2	2	3	2	rs142413133	byFrequency	TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:132161937G>A	uc011mvf.2	-	0	364	c.312C>T	c.(310-312)aaC>aaT	p.N104N	USP26_uc010nrm.1_Silent_p.N104N	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	104					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCTGAACCTCGTTTTGATGAA	0.383													A	132161937	G	A	132161937	2	1	247	1	0	0	0	0	0	0	0	1	17159	1136	40	1		1	USP26	23	132161937	Silent	SNP	G	TCGA-41-3393-01A-01D-1353-08	14413251	132161937	23108623	88	17294											
ZNF75D	7626	broad.mit.edu	37	chrX	134426220	134426220	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacctctttcatatacAggctgggtttctttgtgagt	6	17	8	10	0	4	1	2	1	2	0	5	1	5	1	2	2	1	2	2	2	2	5			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:134426220A>G	uc022ceq.1	-	2	981	c.591T>C	c.(589-591)ccT>ccC	p.P197P	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Intron	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	197					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TTTCATATACAGGCTGGGTTT	0.463													G	134426220	A	G	134426220	2	3	247	1	0	0	0	0	0	0	0	1	18234	175	7	3		3	ZNF75D	23	134426220	Silent	SNP	A	TCGA-41-3393-01A-01D-1353-08	2264283	134426220	20844340	89	17295											
PASD1	139135	broad.mit.edu	37	chrX	150840069	150840069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaaacacattacgccacGttgtcattcctgatctccaa	12	10	5	14	2	2	1	1	1	1	0	4	1	3	1	4	0	3	1	4	0	3	3			TCGA-41-3393-01A-01D-1353-08	TCGA-41-3393-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34d7ef73-5344-4743-a9fa-0162c3cfde47	3f0e2a97-0099-4d80-876c-d1681db4f649	g.chrX:150840069G>A	uc004fev.4	+	12	1587	c.1255G>A	c.(1255-1257)Gtt>Att	p.V419I		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	419						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					ATTACGCCACGTTGTCATTCC	0.498													A	150840069	G	A	150840069	3	1	247	1	0	0	0	0	1	0	0	0	11547	1145	40	1	1301	1	PASD1	23	150840069	Missense_Mutation	SNP	G	TCGA-41-3393-01A-01D-1353-08	16413849	150840069	4430491	90	17296											
TNFRSF4	7293	broad.mit.edu	37	chr1	1149428	1149428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacacagtggagccccGtcacggtgctcagccccagg	7	4	12	18	3	2	0	2	0	0	0	2	2	2	1	6	3	3	1	6	3	0	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:1149428G>A	uc001adf.3	-	0					TNFRSF4_uc001ade.3_Missense_Mutation_p.T27M			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.						immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTGGAGCCCCGTCACGGTGCT	0.726													A	1149428	G	A	1149428	3	1	248	1	0	0	0	0	1	0	0	0	16397	1145	40	1	781	1	TNFRSF4	1	1149428	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		1149428	248101193	1	17297											
HP1BP3	50809	broad.mit.edu	37	chr1	21106920	21106921	+	Frame_Shift_Ins	INS	-	-	T																															gacgagttcaccttgagacgINStatcagtcgccattttaaat																										TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:21106920_21106921insT	uc001bdy.1	-	0	113_114	c.13_14insA	c.(13-15)acgfs	p.T5fs	HP1BP3_uc001bdv.1_5'UTR|HP1BP3_uc001bdw.1_Frame_Shift_Ins_p.T5fs|HP1BP3_uc010odh.1_Intron|HP1BP3_uc001bea.2_Frame_Shift_Ins_p.T5fs|HP1BP3_uc001beb.3_Frame_Shift_Ins_p.T5fs	NM_016287	NP_057371	Q5SSJ5	HP1B3_HUMAN	Homo sapiens heterochromatin protein 1, binding protein 3 (HP1BP3), mRNA.	5					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(2)|skin(2)|urinary_tract(1)	16		all_lung(284;6.55e-06)|Lung NSC(340;6.59e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.26e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00015)|GBM - Glioblastoma multiforme(114;0.000521)|Kidney(64;0.000529)|STAD - Stomach adenocarcinoma(196;0.00311)|KIRC - Kidney renal clear cell carcinoma(64;0.00687)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.201)		ACCTTGAGACGTATCAGTCGCC	0.475													T	21106921	-	T	21106920	7	5	248	1	0	1	1	0	0	0	0	0	7383	1145	40	0	1695	0	HP1BP3	1	21106920	Frame_Shift_Ins	INS	-	TCGA-41-3915-01A-01D-1353-08	19957492	21106920	228143701	2	17298											
ARID1A	8289	broad.mit.edu	37	chr1	27092731	27092731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccgccaggctaccccaatAtgaatcaagggggcatgatg	11	6	13	11	1	1	2	1	2	0	0	1	2	1	2	4	4	1	2	4	4	5	2	rs141432631		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:27092731A>G	uc001bmv.1	+	8	3125	c.2752A>G	c.(2752-2754)Atg>Gtg	p.M918V	ARID1A_uc001bmt.1_Missense_Mutation_p.M918V|ARID1A_uc001bmu.1_Missense_Mutation_p.M918V|ARID1A_uc001bmw.1_Missense_Mutation_p.M535V	NM_006015	NP_006006	O14497	ARI1A_HUMAN	Homo sapiens AT rich interactive domain 1A (SWI-like) (ARID1A), transcript variant 1, mRNA.	918					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTACCCCAATATGAATCAAGG	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								G	27092731	A	G	27092731	3	3	248	1	0	0	0	0	1	0	0	0	916	449	16	3	2786	3	ARID1A	1	27092731	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	5985811	27092731	222157890	3	17299											
RNF19B	127544	broad.mit.edu	37	chr1	33408041	33408042	+	Frame_Shift_Ins	INS	-	-	GC																															caatgctgggattcttgaggINSgctctccaggcatctgccac																										TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:33408041_33408042insGC	uc010oho.2	-	6	1424_1425	c.1424_1425insGC	c.(1423-1425)gccfs	p.A475fs	RNF19B_uc001bwm.4_Frame_Shift_Ins_p.A474fs|RNF19B_uc010ohp.2_Frame_Shift_Ins_p.A474fs	NM_153341	NP_699172	Q6ZMZ0	RN19B_HUMAN	Homo sapiens ring finger protein 19B (RNF19B), transcript variant 1, mRNA.	475						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GATTCTTGAGGGCTCTCCAGGC	0.475													GC	33408042	-	GC	33408041	7	5	248	1	0	1	1	0	0	0	0	0	13562	1219	43	0	811	0	RNF19B	1	33408041	Frame_Shift_Ins	INS	-	TCGA-41-3915-01A-01D-1353-08	6315310	33408041	215842580	4	17300											
FAM159A	348378	broad.mit.edu	37	chr1	53099192	53099192	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcgcctgcacgagctacgtGagcgcagagcaggaggtggt	8	5	18	10	4	0	2	0	1	0	1	0	4	0	3	1	4	5	4	1	4	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:53099192G>C	uc001cuf.3	+	0	127	c.27G>C	c.(25-27)gtG>gtC	p.V9V	FAM159A_uc001cug.1_Non-coding_Transcript|FAM159A_uc001cuh.3_Non-coding_Transcript	NM_001042693	NP_001036158	Q6UWV7	F159A_HUMAN	Homo sapiens family with sequence similarity 159, member A (FAM159A), mRNA.	9						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						CGAGCTACGTGAGCGCAGAGC	0.751													C	53099192	G	C	53099192	2	2	248	1	0	0	0	0	0	0	0	1	5513	1277	45	4		4	FAM159A	1	53099192	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	19691151	53099192	196151429	5	17301											
WDR63	126820	broad.mit.edu	37	chr1	85559260	85559260	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccacctgaaagagtaccAgtcctttaccgaccttcata	12	10	5	14	1	1	2	1	1	0	1	2	3	2	2	6	0	3	1	6	0	5	6			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85559260A>T	uc001dkt.3	+	8	1168	c.977A>T	c.(976-978)cAg>cTg	p.Q326L	WDR63_uc009wcl.3_Missense_Mutation_p.Q287L	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	326										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGAGTACCAGTCCTTTACC	0.438													T	85559260	A	T	85559260	3	4	248	1	0	0	0	0	1	0	0	0	17416	188	7	5	1007	5	WDR63	1	85559260	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	32460068	85559260	163691361	6	17302											
WDR63	126820	broad.mit.edu	37	chr1	85592202	85592202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtttaaagactggaccGctccttcagtcatgctgtgc	8	14	9	10	1	2	1	2	0	0	1	3	2	3	2	2	1	2	3	2	1	2	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:85592202G>A	uc001dkt.3	+	19	2312	c.2121G>A	c.(2119-2121)ccG>ccA	p.P707P	WDR63_uc009wcl.3_Silent_p.P668P	NM_145172	NP_660155	Q8IWG1	WDR63_HUMAN	Homo sapiens WD repeat domain 63 (WDR63), mRNA.	707										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AGACTGGACCGCTCCTTCAGT	0.423													A	85592202	G	A	85592202	2	1	248	1	0	0	0	0	0	0	0	1	17416	1074	38	1		1	WDR63	1	85592202	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	32942	85592202	163658419	7	17303											
TDRKH	11022	broad.mit.edu	37	chr1	151748582	151748582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactgacctgagagcccTgaggtccttcagtgggcaat	9	8	12	12	0	1	3	1	3	0	1	2	4	2	3	3	2	2	2	3	2	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:151748582T>C	uc009wnb.1	-	7	1389	c.1207A>G	c.(1207-1209)Agg>Ggg	p.R403G	TDRKH_uc001eyy.2_Missense_Mutation_p.R179G|TDRKH_uc001ezb.4_Missense_Mutation_p.R399G|TDRKH_uc001ezc.4_Missense_Mutation_p.R358G|TDRKH_uc001eza.4_Missense_Mutation_p.R403G|TDRKH_uc001ezd.4_Missense_Mutation_p.R403G|TDRKH_uc010pdn.1_Missense_Mutation_p.R179G	NM_006862	NP_006853	Q9Y2W6	TDRKH_HUMAN	Homo sapiens tudor and KH domain containing (TDRKH), transcript variant 3, mRNA.	403	Tudor.						RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGAGAGCCCTGAGGTCCTTC	0.537													C	151748582	T	C	151748582	3	2	248	1	0	0	0	0	1	0	0	0	15837	1579	55	3	502	3	TDRKH	1	151748582	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	66156380	151748582	97502039	8	17304											
CR2	1380	broad.mit.edu	37	chr1	207643227	207643227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtcagaagactgggacctgGagtggccctgccccacgctg	8	6	14	13	1	1	2	1	0	0	2	1	4	1	4	4	3	1	1	4	3	1	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:207643227G>A	uc001hfw.3	+	5	1124	c.1005G>A	c.(1003-1005)tgG>tgA	p.W335*	CR2_uc001hfv.3_Nonsense_Mutation_p.W335*|CR2_uc009xch.3_Nonsense_Mutation_p.W335*|CR2_uc009xci.1_5'Flank	NM_001877	NP_001868	P20023	CR2_HUMAN	Homo sapiens complement component (3d/Epstein Barr virus) receptor 2 (CR2), transcript variant 2, mRNA.	335	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.W335*(2)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						CTGGGACCTGGAGTGGCCCTG	0.522													A	207643227	G	A	207643227	4	1	248	1	0	0	0	0	0	1	0	0	3873	1183	41	2	1027	2	CR2	1	207643227	Nonsense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	55894645	207643227	41607394	9	17305											
OR1C1	26188	broad.mit.edu	37	chr1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagggctgaaatagaCggcgatggctgtgccgtaaa	12	7	16	6	3	0	3	0	2	0	1	0	5	0	4	1	4	1	3	1	4	5	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr1:247920937C>T	uc010pza.2	-	0	772	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353	NP_036485	Q15619	OR1C1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily C, member 1 (OR1C1), mRNA.	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V258V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													T	247920937	C	T	247920937	3	4	248	1	0	0	0	0	1	0	0	0	11028	536	19	1	174	1	OR1C1	1	247920937	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	40277710	247920937	1329684	10	17306											
SPATS2L	26010	broad.mit.edu	37	chr2	201332021	201332021	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatttggcagtggaaatcCtgactgctcgtcagaagaaa	12	11	10	8	1	1	3	1	1	0	2	3	4	2	4	1	2	1	2	1	2	4	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:201332021C>T	uc010zhc.2	+	9	1069	c.946C>T	c.(946-948)Ctg>Ttg	p.L316L	SPATS2L_uc002uvn.4_Silent_p.L286L|SPATS2L_uc010fst.3_Silent_p.L286L|SPATS2L_uc002uvo.4_Silent_p.L226L|SPATS2L_uc002uvp.4_Silent_p.L286L|SPATS2L_uc002uvq.4_Silent_p.L217L|SPATS2L_uc002uvr.4_Silent_p.L286L	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	286						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGTGGAAATCCTGACTGCTCG	0.438													T	201332021	C	T	201332021	2	4	248	1	0	0	0	0	0	0	0	1	15116	680	24	2		2	SPATS2L	2	201332021	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08		201332021	41867352	11	17307											
RAPH1	65059	broad.mit.edu	37	chr2	204320201	204320201	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtagataccagatgctcGcaagagaaaataacgctttt	16	10	8	7	2	0	3	0	0	0	3	1	4	0	3	1	0	3	4	1	0	7	6			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:204320201G>A	uc002vad.3	-	8	1486	c.1261C>T	c.(1261-1263)Cga>Tga	p.R421*	RAPH1_uc002vae.3_Nonsense_Mutation_p.R473*|RAPH1_uc002vaf.3_Nonsense_Mutation_p.R473*	NM_213589	NP_998754	Q70E73	RAPH1_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) and pleckstrin homology domains 1 (RAPH1), transcript variant 1, mRNA.	421	PH.				cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCAGATGCTCGCAAGAGAAAA	0.383													A	204320201	G	A	204320201	4	1	248	1	0	0	0	0	0	1	0	0	13138	1095	38	1	2522	1	RAPH1	2	204320201	Nonsense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	2988180	204320201	38879172	12	17308											
DGKD	8527	broad.mit.edu	37	chr2	234344488	234344488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatttaaggcccacaagcGctgtgctgtgcgtgcaacca	11	8	10	12	2	0	0	0	0	0	0	0	0	0	0	2	1	5	3	2	1	4	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:234344488G>A	uc002vui.1	+	5	623	c.611G>A	c.(610-612)cGc>cAc	p.R204H	DGKD_uc002vuj.1_Missense_Mutation_p.R160H|DGKD_uc010fyh.1_Missense_Mutation_p.R71H|DGKD_uc010fyi.1_5'Flank|DGKD_uc002vuk.1_Missense_Mutation_p.R71H	NM_152879	NP_690618	Q16760	DGKD_HUMAN	Homo sapiens diacylglycerol kinase, delta 130kDa (DGKD), transcript variant 2, mRNA.	204					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCCCACAAGCGCTGTGCTGTG	0.507													A	234344488	G	A	234344488	3	1	248	1	0	0	0	0	1	0	0	0	4506	1087	38	1	657	1	DGKD	2	234344488	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	30024287	234344488	8854885	13	17309											
COL6A3	1293	broad.mit.edu	37	chr2	238305417	238305417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaaagcctgagagaaagAggcaaaagacggccactaag	18	3	13	7	1	0	4	0	1	0	3	0	6	0	5	2	3	1	1	2	3	6	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr2:238305417A>G	uc002vwl.2	-	1	329	c.44T>C	c.(43-45)cTc>cCc	p.L15P	COL6A3_uc002vwo.2_Missense_Mutation_p.L15P|COL6A3_uc010znj.1_Missense_Mutation_p.L15P|COL6A3_uc002vwq.3_Missense_Mutation_p.L15P|COL6A3_uc002vwr.3_Missense_Mutation_p.L15P|COL6A3_uc010znk.1_Missense_Mutation_p.L15P	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	15					axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TGAGAGAAAGAGGCAAAAGAC	0.423													G	238305417	A	G	238305417	3	3	248	1	0	0	0	0	1	0	0	0	3732	304	11	3	9708	3	COL6A3	2	238305417	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	3960929	238305417	4893956	14	17310											
NCAPG	64151	broad.mit.edu	37	chr4	17825349	17825349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtttcttttcttgttgaaAgactactccacatcattata	10	18	5	8	0	3	2	1	1	2	1	4	2	4	2	1	1	1	2	1	1	4	8			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:17825349A>G	uc003gpp.3	+	8	1515	c.1339A>G	c.(1339-1341)Aga>Gga	p.R447G	NCAPG_uc011bxj.2_5'UTR	NM_022346	NP_071741	Q9BPX3	CND3_HUMAN	Homo sapiens non-SMC condensin I complex, subunit G (NCAPG), mRNA.	447					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		TCTTGTTGAAAGACTACTCCA	0.323													G	17825349	A	G	17825349	3	3	248	1	0	0	0	0	1	0	0	0	10283	64	3	3	1373	3	NCAPG	4	17825349	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		17825349	173328927	15	17311											
GC	2638	broad.mit.edu	37	chr4	72620754	72620754	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattcaccaaggctttttaGggttggctcaagtaccttac	9	13	9	10	0	2	0	2	0	0	0	2	0	2	0	2	3	2	5	2	3	5	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:72620754G>C	uc010iif.3	-	9	1257	c.1162C>G	c.(1162-1164)Cta>Gta	p.L388V	GC_uc003hge.3_Missense_Mutation_p.L369V|GC_uc021xpb.1_Missense_Mutation_p.L369V	NM_001204307	NP_001191236	P02774	VTDB_HUMAN	Homo sapiens group-specific component (vitamin D binding protein) (GC), transcript variant 3, mRNA.	369	Albumin 2.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	AGGCTTTTTAGGGTTGGCTCA	0.388													C	72620754	G	C	72620754	3	2	248	1	0	0	0	0	1	0	0	0	6336	991	35	4	335	4	GC	4	72620754	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	54795405	72620754	118533522	16	17312											
C4orf22	255119	broad.mit.edu	37	chr4	81504250	81504250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatctgccttttacaggacGctaacaagtgctggtaaaga	13	10	10	8	1	1	2	0	0	1	2	1	3	1	3	1	2	4	3	1	2	5	4	rs141410009	by1000genomes	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:81504250G>A	uc010ijp.3	+	2	295	c.246G>A	c.(244-246)acG>acA	p.T82T	C4orf22_uc003hmf.3_Silent_p.T82T	NM_001206997	NP_001193926	Q6V702	CD022_HUMAN	Homo sapiens chromosome 4 open reading frame 22 (C4orf22), transcript variant 1, mRNA.	82								p.T82M(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						TTTACAGGACGCTAACAAGTG	0.383													A	81504250	G	A	81504250	2	1	248	1	0	0	0	0	0	0	0	1	2277	1074	38	1		1	C4orf22	4	81504250	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	8883496	81504250	109650026	17	17313											
PRKG2	5593	broad.mit.edu	37	chr4	82125882	82125882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaatccagaggtcttcCggtggacctcaagaggcact	11	7	11	12	1	2	3	1	0	1	3	4	4	4	4	4	4	0	1	4	4	2	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr4:82125882C>T	uc003hmh.2	-	0	333	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	PRKG2_uc011cch.1_Missense_Mutation_p.R107Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	107					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						AGAGGTCTTCCGGTGGACCTC	0.562													T	82125882	C	T	82125882	3	4	248	1	0	0	0	0	1	0	0	0	12609	652	23	1	2040	1	PRKG2	4	82125882	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	621632	82125882	109028394	18	17314											
ADCY2	108	broad.mit.edu	37	chr5	7709333	7709333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccccaagggagaacgaCggagcccccagcatctcttc	10	5	9	17	2	2	1	1	0	1	1	4	4	2	2	4	2	3	1	4	2	2	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:7709333C>T	uc003jdz.1	+	9	1478	c.1411C>T	c.(1411-1413)Cgg>Tgg	p.R471W	ADCY2_uc011cmo.1_Missense_Mutation_p.R291W	NM_020546	NP_065433	Q08462	ADCY2_HUMAN	Homo sapiens adenylate cyclase 2 (brain) (ADCY2), mRNA.	471					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.R471L(1)|p.R471Q(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGGAGAACGACGGAGCCCCCA	0.587													T	7709333	C	T	7709333	3	4	248	1	0	0	0	0	1	0	0	0	294	527	19	1	1449	1	ADCY2	5	7709333	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		7709333	173205927	19	17315											
PIK3R1	5295	broad.mit.edu	37	chr5	67589298	67589298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaattactttatccagtatCcaaataccaacaggtaataa	18	11	4	8	0	0	0	0	0	0	0	2	1	2	0	3	1	3	2	3	1	9	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:67589298C>A	uc003jva.3	+	9	1866	c.1286C>A	c.(1285-1287)tCc>tAc	p.S429Y	PIK3R1_uc003jvc.3_Missense_Mutation_p.S129Y|PIK3R1_uc003jvd.3_Missense_Mutation_p.S159Y|PIK3R1_uc003jve.3_Missense_Mutation_p.S108Y|PIK3R1_uc021xzn.1_Missense_Mutation_p.S66Y|PIK3R1_uc011crb.2_Missense_Mutation_p.S99Y	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	429					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATCCAGTATCCAAATACCAA	0.318			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589298	C	A	67589298	3	1	248	1	0	0	0	0	1	0	0	0	11995	855	30	4	1450	4	PIK3R1	5	67589298	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	59879965	67589298	113325962	20	17316											
PCDHB12	56124	broad.mit.edu	37	chr5	140588488	140588488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaagctatggaaaaCggaggggcaggcactctgca	15	4	15	7	1	1	1	0	0	1	1	1	4	1	4	0	6	3	4	0	6	6	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:140588488C>T	uc003liz.3	+	0	198	c.9C>T	c.(7-9)aaC>aaT	p.N3N	PCDHB12_uc011dak.2_5'UTR	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	3					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.E2*(1)		NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTATGGAAAACGGAGGGGCAG	0.493													T	140588488	C	T	140588488	2	4	248	1	0	0	0	0	0	0	0	1	11613	535	19	1		1	PCDHB12	5	140588488	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	72999190	140588488	40326772	21	17317											
FOXI1	2299	broad.mit.edu	37	chr5	169533358	169533358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctactcggctctcatcGccatggccatccacggggca	7	9	9	16	3	1	0	1	0	1	0	6	0	3	0	4	4	1	2	4	4	1	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr5:169533358G>C	uc003mai.4	+	0	442	c.397G>C	c.(397-399)Gcc>Ccc	p.A133P	FOXI1_uc003maj.4_Missense_Mutation_p.A133P	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	133					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGCTCTCATCGCCATGGCCAT	0.642									Pendred syndrome				C	169533358	G	C	169533358	3	2	248	1	0	0	0	0	1	0	0	0	6060	1087	38	4	399	4	FOXI1	5	169533358	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	28944870	169533358	11381902	22	17318											
BEND3	57673	broad.mit.edu	37	chr6	107391897	107391897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcaggagccgcagtgaCgaggggctgttgctggcgtt	6	10	16	9	3	2	1	2	1	0	0	2	3	2	2	1	4	2	5	1	4	0	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr6:107391897C>T	uc003prs.2	-	4	1148	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_001080450	NP_001073919	Q5T5X7	BEND3_HUMAN	Homo sapiens BEN domain containing 3 (BEND3), mRNA.	166										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GCCGCAGTGACGAGGGGCTGT	0.567													T	107391897	C	T	107391897	2	4	248	1	0	0	0	0	0	0	0	1	1404	523	19	1		1	BEND3	6	107391897	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08		107391897	63723170	23	17319											
ANKIB1	54467	broad.mit.edu	37	chr7	91991520	91991520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccttggtgaagcacaTgagccttgtgactgccaaac	10	9	12	10	0	0	3	0	3	0	0	0	4	0	3	3	1	5	1	3	1	2	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:91991520T>A	uc003ulw.2	+	9	1795	c.1419T>A	c.(1417-1419)caT>caA	p.H473Q		NM_019004	NP_061877	Q9P2G1	AKIB1_HUMAN	Homo sapiens ankyrin repeat and IBR domain containing 1 (ANKIB1), mRNA.	473							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTGAAGCACATGAGCCTTGTG	0.368													A	91991520	T	A	91991520	3	1	248	1	0	0	0	0	1	0	0	0	630	1461	51	5	1453	5	ANKIB1	7	91991520	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		91991520	67147143	24	17320											
PRSS37	136242	broad.mit.edu	37	chr7	141536273	141536273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgacgtcccctcccatGaagtgccccacctcgattcc	7	8	7	19	3	0	1	0	1	0	0	4	3	3	1	8	0	2	0	8	0	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr7:141536273G>T	uc003vws.2	-	4	1002	c.630C>A	c.(628-630)ttC>ttA	p.F210L	PRSS37_uc011krl.2_Missense_Mutation_p.F209L|PRSS37_uc011krk.2_Missense_Mutation_p.F197L|PRSS37_uc003vwt.2_Missense_Mutation_p.F197L	NM_001008270	NP_001008271	A4D1T9	PRS37_HUMAN	Homo sapiens protease, serine, 37 (PRSS37), transcript variant 1, mRNA.	210	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(3)	15						CCCCTCCCATGAAGTGCCCCA	0.512													T	141536273	G	T	141536273	3	4	248	1	0	0	0	0	1	0	0	0	12711	1281	45	4	81	4	PRSS37	7	141536273	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	49544753	141536273	17602390	25	17321											
DOCK5	80005	broad.mit.edu	37	chr8	25199986	25199986	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggcagaaacttaactgcatGaccaagatagtagagagcac	16	6	10	9	1	0	4	0	1	0	3	0	5	0	4	1	1	4	4	1	1	5	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:25199986G>C	uc003xeg.3	+	24	2717	c.2580G>C	c.(2578-2580)atG>atC	p.M860I	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.M574I|DOCK5_uc003xei.3_Missense_Mutation_p.M430I|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	860						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TTAACTGCATGACCAAGATAG	0.468													C	25199986	G	C	25199986	3	2	248	1	0	0	0	0	1	0	0	0	4729	1290	45	4	2678	4	DOCK5	8	25199986	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		25199986	121164036	26	17322											
POTEA	340441	broad.mit.edu	37	chr8	43171085	43171085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacaaaggcttaaaggaaGtgaaaatagtcagcatgagg	17	6	12	6	0	1	2	1	2	0	0	1	3	1	3	1	3	1	2	1	3	7	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr8:43171085G>C	uc003xpz.1	+	6	999	c.956G>C	c.(955-957)aGt>aCt	p.S319T	POTEA_uc003xqa.1_Missense_Mutation_p.S273T	NM_001005365	NP_001005365	Q6S8J7	POTEA_HUMAN	Homo sapiens POTE ankyrin domain family, member A (POTEA), transcript variant 2, mRNA.	319										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTTAAAGGAAGTGAAAATAGT	0.303													C	43171085	G	C	43171085	3	2	248	1	0	0	0	0	1	0	0	0	12338	1029	36	4	982	4	POTEA	8	43171085	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	17971099	43171085	103192937	27	17323											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18574217	18574217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggtcttagatggtacgCgttgctatacagaatctttg	10	14	10	7	2	2	2	0	0	2	2	2	2	2	2	0	2	3	3	0	2	6	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:18574217C>T	uc003zne.4	+	3	579	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	ADAMTSL1_uc003znb.3_Missense_Mutation_p.R143C|ADAMTSL1_uc003znc.4_Missense_Mutation_p.R143C	NM_001040272	NP_001035362	Q8N6G6	ATL1_HUMAN	Homo sapiens ADAMTS-like 1 (ADAMTSL1), transcript variant 4, mRNA.	143						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	p.T142M(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AGATGGTACGCGTTGCTATAC	0.438													T	18574217	C	T	18574217	3	4	248	1	0	0	0	0	1	0	0	0	274	768	27	1	441	1	ADAMTSL1	9	18574217	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		18574217	122639214	28	17324											
IFNW1	3467	broad.mit.edu	37	chr9	21141168	21141168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgcagggctgctaattgcCccagcagattctccttctcc	7	11	9	14	0	2	1	0	0	2	1	4	1	2	1	4	1	4	4	4	1	1	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:21141168C>T	uc003zol.1	-	0	977	c.402G>A	c.(400-402)ggG>ggA	p.G134G		NM_002177	NP_002168	P05000	IFNW1_HUMAN	Homo sapiens interferon, omega 1 (IFNW1), mRNA.	134					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCTAATTGCCCCAGCAGATT	0.527													T	21141168	C	T	21141168	2	4	248	1	0	0	0	0	0	0	0	1	7610	610	22	2		2	IFNW1	9	21141168	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	2566951	21141168	120072263	29	17325											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130674960	130674960	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcgcggaccagcggCtgcagggcaggcagggagaa	9	2	19	11	3	0	1	0	0	0	1	1	3	0	2	1	6	2	5	1	6	1	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr9:130674960C>A	uc004bss.3	-	4	475	c.199_splice	c.e4-1	p.P67_splice	ST6GALNAC4_uc004bst.3_Splice_Site	NM_175039	NP_778205	Q9H4F1	SIA7D_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4 (ST6GALNAC4), transcript variant 1, mRNA.	67					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						GGACCAGCGGCTGCAGGGCAG	0.632													A	130674960	C	A	130674960	5	1	248	1	0	0	0	0	0	0	1	0	15322	811	28	4	722	4	ST6GALNAC4	9	130674960	Splice_Site	SNP	C	TCGA-41-3915-01A-01D-1353-08	109533792	130674960	10538471	30	17326											
PTEN	5728	broad.mit.edu	37	chr10	89692905	89692905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaaagctggaaagggacGaactggtgtaatgatatgtg	13	10	14	4	1	0	1	0	1	0	0	0	4	0	3	0	3	2	3	0	3	6	3	rs121913292		TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:89692905G>A	uc001kfb.3	+	4	1421	c.389G>A	c.(388-390)cGa>cAa	p.R130Q	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692905	G	A	89692905	3	1	248	1	0	0	0	0	1	0	0	0	12823	1058	37	1	407	1	PTEN	10	89692905	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		89692905	45841842	31	17327											
PDZD7	79955	broad.mit.edu	37	chr10	102789812	102789812	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgaggctcggattccgcgGgggggcccgttcagcagccg	5	6	18	12	5	1	1	1	1	0	0	3	3	2	2	3	5	2	3	3	5	0	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:102789812G>T	uc001ksn.3	-	1	415	c.165C>A	c.(163-165)ccC>ccA	p.P55P	PDZD7_uc021pxc.1_Silent_p.P55P|PDZD7_uc001kso.2_Silent_p.P55P|SFXN3_uc001ksp.3_5'Flank|SFXN3_uc010qpx.2_5'Flank	NM_024895	NP_079171	Q9H5P4	PDZD7_HUMAN	Homo sapiens PDZ domain containing 7 (PDZD7), transcript variant 2, mRNA.	55						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GGATTCCGCGGGGGGGCCCGT	0.662													T	102789812	G	T	102789812	2	4	248	1	0	0	0	0	0	0	0	1	11780	1219	43	4		4	PDZD7	10	102789812	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	13096907	102789812	32744935	32	17328											
HPS6	79803	broad.mit.edu	37	chr10	103827208	103827208	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctggatgctggcctggccctCggcccctccagtcccctgct	2	9	11	19	1	0	0	0	0	0	0	3	1	2	1	7	4	2	2	7	4	0	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:103827208C>G	uc001kuj.3	+	0	2085	c.1977C>G	c.(1975-1977)ctC>ctG	p.L659L		NM_024747	NP_079023	Q86YV9	HPS6_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 6 (HPS6), mRNA.	659						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCCTGGCCCTCGGCCCCTCCA	0.617									Hermansky-Pudlak syndrome				G	103827208	C	G	103827208	2	3	248	1	0	0	0	0	0	0	0	1	7398	871	31	4		4	HPS6	10	103827208	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	1037396	103827208	31707539	33	17329											
KIAA1598	57698	broad.mit.edu	37	chr10	118728190	118728190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattcttccagttttttaaCggcttcatctcgttcttgcc	7	18	5	11	2	4	0	1	0	3	0	6	0	5	0	2	1	2	3	2	1	2	8			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:118728190C>T	uc021pzk.1	-	2	643	c.145G>A	c.(145-147)Gtt>Att	p.V49I	KIAA1598_uc009xyw.3_Missense_Mutation_p.V49I|KIAA1598_uc001lcz.4_Missense_Mutation_p.V49I|KIAA1598_uc010qso.2_5'UTR|KIAA1598_uc010qsp.1_Missense_Mutation_p.V49I|KIAA1598_uc010qsq.1_5'UTR|KIAA1598_uc001lcy.4_Missense_Mutation_p.V19I	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	49					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		AGTTTTTTAACGGCTTCATCT	0.323													T	118728190	C	T	118728190	3	4	248	1	0	0	0	0	1	0	0	0	8304	536	19	1	1810	1	KIAA1598	10	118728190	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	14900982	118728190	16806557	34	17330											
SYCE1	93426	broad.mit.edu	37	chr10	135370273	135370273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggactcacgtggaagtccCagaggtccttgtgctggccc	7	8	14	12	1	1	1	1	0	0	1	3	3	3	3	3	4	1	1	3	4	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr10:135370273C>A	uc001lno.2	-	7	623	c.518G>T	c.(517-519)tGg>tTg	p.W173L	CYP2E1_uc001lnl.1_3'UTR|SYCE1_uc001lnm.2_Missense_Mutation_p.W45L|SYCE1_uc009ybn.2_Missense_Mutation_p.W173L|SYCE1_uc001lnn.2_Missense_Mutation_p.W137L	NM_001143764	NP_001137236	Q8N0S2	SYCE1_HUMAN	Homo sapiens synaptonemal complex central element protein 1 (SYCE1), transcript variant 4, mRNA.	173					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GTGGAAGTCCCAGAGGTCCTT	0.567													A	135370273	C	A	135370273	3	1	248	1	0	0	0	0	1	0	0	0	15524	595	21	4	604	4	SYCE1	10	135370273	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	16642083	135370273	164474	35	17331											
DENND5A	23258	broad.mit.edu	37	chr11	9171674	9171674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcaggtgtctggaaaGtaactttttttccatggaca	9	15	9	8	0	2	0	1	0	1	0	3	2	3	2	1	3	2	2	1	3	2	5			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:9171674G>A	uc001mhl.3	-	14	2946	c.2689C>T	c.(2689-2691)Ctt>Ttt	p.L897F	DENND5A_uc001mhk.3_Missense_Mutation_p.L240F|DENND5A_uc010rbw.2_Missense_Mutation_p.L897F|DENND5A_uc010rbx.2_Non-coding_Transcript	NM_015213	NP_056028	Q6IQ26	DEN5A_HUMAN	Homo sapiens DENN/MADD domain containing 5A (DENND5A), transcript variant 1, mRNA.	897	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGTCTGGAAAGTAACTTTTTT	0.517													A	9171674	G	A	9171674	3	1	248	1	0	0	0	0	1	0	0	0	4475	1029	36	2	1210	2	DENND5A	11	9171674	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		9171674	125834842	36	17332											
OR4C11	219429	broad.mit.edu	37	chr11	55371464	55371464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatgatggttgggtaaCgcaagggcttacagatggcc	9	9	15	8	1	1	2	1	1	0	1	1	2	1	2	1	5	2	5	1	5	3	3	rs146220981	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:55371464C>T	uc010rii.2	-	0	411	c.386G>A	c.(385-387)cGt>cAt	p.R129H		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						GGTTGGGTAACGCAAGGGCTT	0.458													T	55371464	C	T	55371464	3	4	248	1	0	0	0	0	1	0	0	0	11121	536	19	1	548	1	OR4C11	11	55371464	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	46199790	55371464	79635052	37	17333											
SLC43A3	5553	broad.mit.edu	37	chr11	57156544	57156544	+	Missense_Mutation	SNP	G	G	A																															agcggcaggtctggcacccaGggatgcccaccacttttact																										TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156544G>A	uc001nkc.3	-	2	379	c.305C>T	c.(304-306)cCt>cTt	p.P102L	SLC43A3_uc001nkd.3_Missense_Mutation_p.P102L|SLC43A3_uc001nke.3_Missense_Mutation_p.P382L	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CTGGCACCCAGGGATGCCCAC	0.532													A	57156544	G	A	57156544	3	1	248	1	0	0	0	0	1	0	0	0	14728	1000	35	2		2	SLC43A3	11	57156544	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1785080	57156544	77849972	38	17334	22	2									
SLC43A3	5553	broad.mit.edu	37	chr11	57156546	57156546	+	Silent	SNP	G	G	A																															cggcaggtctggcacccaggGatgcccaccacttttactgt																										TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:57156546G>A	uc001nkc.3	-	2	377	c.303C>T	c.(301-303)atC>atT	p.I101I	SLC43A3_uc001nkd.3_Silent_p.I101I|SLC43A3_uc001nke.3_Silent_p.I381I	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane		p.R101C(1)		central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						GGCACCCAGGGATGCCCACCA	0.537													A	57156546	G	A	57156546	2	1	248	1	0	0	0	0	0	0	0	1	14728	1164	41	2		2	SLC43A3	11	57156546	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	2	57156546	77849970	39	17335	22	2									
MS4A14	84689	broad.mit.edu	37	chr11	60184319	60184319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattccaaaatgttcaagcCgaaggacagcaagctcaggt	15	7	9	10	1	2	0	2	0	0	0	3	2	3	1	2	2	3	3	2	2	6	2	rs147367847	byFrequency	TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:60184319C>T	uc001npj.3	+	4	2443	c.1878C>T	c.(1876-1878)gcC>gcT	p.A626A	MS4A14_uc001npi.3_Silent_p.A514A|MS4A14_uc001npn.3_Silent_p.A364A|MS4A14_uc001npk.3_Silent_p.A609A|MS4A14_uc001npl.3_Silent_p.A364A|MS4A14_uc001npm.3_Silent_p.A364A	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	626	Gln-rich.					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						ATGTTCAAGCCGAAGGACAGC	0.458													T	60184319	C	T	60184319	2	4	248	1	0	0	0	0	0	0	0	1	9934	639	23	1		1	MS4A14	11	60184319	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	3027773	60184319	74822197	40	17336											
MEN1	4221	broad.mit.edu	37	chr11	64572600	64572600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctcccatttgcagatgCcgtcgtagaatcgcagcagg	8	9	10	14	3	0	2	0	0	0	2	4	2	2	2	4	1	3	4	4	1	2	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:64572600C>T	uc001obj.3	-	8	1344	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	MAP4K2_uc001obh.3_5'Flank|MAP4K2_uc001obi.3_5'Flank|MAP4K2_uc010rnp.1_5'Flank|MEN1_uc001obk.3_Missense_Mutation_p.G424D|MEN1_uc001obl.3_Missense_Mutation_p.G384D|MEN1_uc001obm.3_Missense_Mutation_p.G419D|MEN1_uc001obn.3_Missense_Mutation_p.G424D|MEN1_uc001obo.3_Missense_Mutation_p.G424D|MEN1_uc001obq.3_Missense_Mutation_p.G424D|MEN1_uc001obr.3_Missense_Mutation_p.G424D	NM_130800	NP_570716	O00255	MEN1_HUMAN	Homo sapiens multiple endocrine neoplasia I (MEN1), transcript variant e1B, mRNA.	424			Missing (in MEN1).		DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding	p.L414_E425del(2)|p.G419fs*26(1)		NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						TTTGCAGATGCCGTCGTAGAA	0.637			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				T	64572600	C	T	64572600	3	4	248	1	0	0	0	0	1	0	0	0	9547	739	26	2	584	2	MEN1	11	64572600	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	4388281	64572600	70433916	41	17337											
ATM	472	broad.mit.edu	37	chr11	108183214	108183214	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtaaagaagaaactggaAtaagtttacaggtaaatatt	21	10	8	2	0	0	2	0	0	0	2	0	3	0	3	0	2	2	3	0	2	11	7			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr11:108183214A>G	uc001pkb.1	+	39	6380	c.5995A>G	c.(5995-5997)Ata>Gta	p.I1999V	ATM_uc009yxr.1_Missense_Mutation_p.I1999V|C11orf65_uc010rvx.1_Intron|ATM_uc001pke.2_Missense_Mutation_p.I651V|ATM_uc001pkg.1_Missense_Mutation_p.I356V|ATM_uc009yxt.1_Missense_Mutation_p.I113V	NM_000051	NP_000042	Q13315	ATM_HUMAN	Homo sapiens ataxia telangiectasia mutated (ATM), mRNA.	1999	FAT.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGAAACTGGAATAAGTTTACA	0.328			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G	108183214	A	G	108183214	3	3	248	1	0	0	0	0	1	0	0	0	1114	101	4	3	6149	3	ATM	11	108183214	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	43610614	108183214	26823302	42	17338											
IFLTD1	160492	broad.mit.edu	37	chr12	25699396	25699396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagtgtgctgtaagtttctTtgaatcaccaaacaaagaaa	15	12	8	6	0	2	3	1	2	1	1	2	3	2	3	1	0	2	3	1	0	5	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:25699396T>C	uc010sji.1	-	3	648	c.403A>G	c.(403-405)Aag>Gag	p.K135E	IFLTD1_uc001rgt.1_Missense_Mutation_p.K17E|IFLTD1_uc001rgs.2_Missense_Mutation_p.K114E|IFLTD1_uc010sjj.2_Missense_Mutation_p.K51E|IFLTD1_uc009zjc.2_Missense_Mutation_p.K135E	NM_001145728	NP_001139200	Q8N9Z9	ILFT1_HUMAN	Homo sapiens intermediate filament tail domain containing 1 (IFLTD1), transcript variant 1, mRNA.	114						intermediate filament	structural molecule activity	p.L134F(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					GTAAGTTTCTTTGAATCACCA	0.373													C	25699396	T	C	25699396	3	2	248	1	0	0	0	0	1	0	0	0	7588	1850	64	3	850	3	IFLTD1	12	25699396	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		25699396	108152499	43	17339											
CPNE8	144402	broad.mit.edu	37	chr12	39268300	39268300	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttagaaaatgtgtctcTgtcaagaagatttctgttga	13	15	9	4	0	3	5	1	1	2	4	4	5	3	5	0	0	0	1	0	0	5	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:39268300T>A	uc001rls.1	-	1	196	c.112A>T	c.(112-114)Aga>Tga	p.R38*		NM_153634	NP_705898	Q86YQ8	CPNE8_HUMAN	Homo sapiens copine VIII (CPNE8), mRNA.	38	C2 1.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				AATGTGTCTCTGTCAAGAAGA	0.264													A	39268300	T	A	39268300	4	1	248	1	0	0	0	0	0	1	0	0	3849	1588	55	5	1658	5	CPNE8	12	39268300	Nonsense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	13568904	39268300	94583595	44	17340											
DIP2B	57609	broad.mit.edu	37	chr12	51102260	51102260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttctgtgtctgtattttAtgatgagcgcattgtggtgg	5	19	13	4	1	2	2	0	2	2	0	2	2	2	2	0	2	1	3	0	2	2	6			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:51102260A>G	uc001rwv.3	+	21	2720	c.2564A>G	c.(2563-2565)tAt>tGt	p.Y855C	DIP2B_uc009zlt.3_Missense_Mutation_p.Y285C	NM_173602	NP_775873	Q9P265	DIP2B_HUMAN	Homo sapiens DIP2 disco-interacting protein 2 homolog B (Drosophila) (DIP2B), mRNA.	855						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCTGTATTTTATGATGAGCGC	0.448													G	51102260	A	G	51102260	3	3	248	1	0	0	0	0	1	0	0	0	4567	449	16	3	2650	3	DIP2B	12	51102260	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08	11833960	51102260	82749635	45	17341											
SDR9C7	121214	broad.mit.edu	37	chr12	57324008	57324008	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagtaccagggcccagttAccttatgctgtcagagaagg	10	10	11	10	0	2	1	2	0	0	1	2	2	2	1	3	2	3	3	3	2	4	4			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr12:57324008A>G	uc010sqw.2	-	2	704	c.560_splice	c.e2+1	p.R187_splice		NM_148897	NP_683695	Q8NEX9	DR9C7_HUMAN	Homo sapiens short chain dehydrogenase/reductase family 9C, member 7 (SDR9C7), mRNA.	187						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						GGGCCCAGTTACCTTATGCTG	0.537													G	57324008	A	G	57324008	5	3	248	1	0	0	0	0	0	0	1	0	14067	405	14	3	391	3	SDR9C7	12	57324008	Splice_Site	SNP	A	TCGA-41-3915-01A-01D-1353-08	6221748	57324008	76527887	46	17342											
TUBA3C	7278	broad.mit.edu	37	chr13	19748215	19748215	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccgcgatggccgtggTgttgctcagcatgcacacag	6	8	14	13	3	1	0	1	0	0	0	2	1	2	0	3	3	3	4	3	3	0	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr13:19748215T>A	uc009zzj.3	-	4	1246	c.1141A>T	c.(1141-1143)Acc>Tcc	p.T381S		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	381					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATGGCCGTGGTGTTGCTCAGC	0.627													A	19748215	T	A	19748215	3	1	248	1	0	0	0	0	1	0	0	0	16848	1696	59	5	215	5	TUBA3C	13	19748215	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08		19748215	95421663	47	17343											
AHNAK2	113146	broad.mit.edu	37	chr14	105413630	105413630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggctccctcgggaacgtGgccctctgggagtttcacat	5	9	13	14	3	2	0	1	0	1	0	4	2	3	2	3	4	1	2	3	4	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr14:105413630G>T	uc010axc.1	-	6	8278	c.8158C>A	c.(8158-8160)Cac>Aac	p.H2720N	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.H2620N	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2720						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGGAACGTGGCCCTCTGGG	0.602													T	105413630	G	T	105413630	3	4	248	1	0	0	0	0	1	0	0	0	415	1348	47	4	9233	4	AHNAK2	14	105413630	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		105413630	1935910	48	17344											
ADAMTS7	11173	broad.mit.edu	37	chr15	79083051	79083051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcatggtgcaggggatggGcatcccccttcatgttgatg	6	12	14	9	0	2	1	2	1	0	0	3	2	3	2	2	4	1	3	2	4	0	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:79083051G>A	uc002bej.4	-	5	1200	c.989C>T	c.(988-990)gCc>gTc	p.A330V	ADAMTS7_uc010und.1_Missense_Mutation_p.A330V|ADAMTS7_uc002bek.1_Missense_Mutation_p.A330V	NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	330	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGGGGATGGGCATCCCCCTT	0.592													A	79083051	G	A	79083051	3	1	248	1	0	0	0	0	1	0	0	0	271	1203	42	2	4147	2	ADAMTS7	15	79083051	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08		79083051	23448341	49	17345											
OR4F15	390649	broad.mit.edu	37	chr15	102358715	102358715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttagccatgctcttggggGcactgagatggtgctgctca	6	12	13	10	0	2	1	1	1	1	1	2	2	2	1	1	3	4	4	1	3	1	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr15:102358715G>A	uc010uts.2	+	0	326	c.326G>A	c.(325-327)gGc>gAc	p.G109D		NM_001001674	NP_001001674	Q8NGB8	O4F15_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily F, member 15 (OR4F15), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G109G(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(10)	19	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GCTCTTGGGGGCACTGAGATG	0.458													A	102358715	G	A	102358715	3	1	248	1	0	0	0	0	1	0	0	0	11137	1203	42	2	328	2	OR4F15	15	102358715	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	23275664	102358715	172677	50	17346											
ZFP3	124961	broad.mit.edu	37	chr17	4995064	4995064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgagaaagaccgggagaatAatgagagtgagagaggctgc	15	5	17	4	1	0	6	0	3	0	5	0	10	0	6	1	2	1	1	1	2	3	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:4995064A>G	uc002gaq.3	+	1	390	c.265A>G	c.(265-267)Aat>Gat	p.N89D	ZFP3_uc021tog.1_Missense_Mutation_p.N89D	NM_153018	NP_694563	Q96NJ6	ZFP3_HUMAN	Homo sapiens zinc finger protein 3 homolog (mouse) (ZFP3), mRNA.	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						CCGGGAGAATAATGAGAGTGA	0.468													G	4995064	A	G	4995064	3	3	248	1	0	0	0	0	1	0	0	0	17744	362	13	3	267	3	ZFP3	17	4995064	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		4995064	76200146	51	17347											
ZNF287	57336	broad.mit.edu	37	chr17	16455757	16455757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggcttttccacattcatTacatttataacacttctctc	12	16	2	11	0	2	0	1	0	1	0	5	0	3	0	1	1	2	1	1	1	4	8			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:16455757T>C	uc021trd.1	-	5	2317	c.1699A>G	c.(1699-1701)Aat>Gat	p.N567D	ZNF287_uc002gqi.2_Missense_Mutation_p.N567D	NM_020653	NP_065704	Q9HBT7	ZN287_HUMAN	Homo sapiens zinc finger protein 287 (ZNF287), mRNA.	560					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)		CCACATTCATTACATTTATAA	0.353													C	16455757	T	C	16455757	3	2	248	1	0	0	0	0	1	0	0	0	17926	1754	61	3	590	3	ZNF287	17	16455757	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	11460693	16455757	64739453	52	17348											
RAI1	10743	broad.mit.edu	37	chr17	17697187	17697187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccattaccaaaacctcGccaagtatcagcactacggg	12	7	6	16	2	1	0	1	0	0	0	3	0	2	0	5	1	4	2	5	1	6	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:17697187G>A	uc002grm.3	+	2	1394	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	RAI1_uc002grn.1_Missense_Mutation_p.A309T	NM_030665	NP_109590	Q7Z5J4	RAI1_HUMAN	Homo sapiens retinoic acid induced 1 (RAI1), mRNA.	309	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCAAAACCTCGCCAAGTATCA	0.627													A	17697187	G	A	17697187	3	1	248	1	0	0	0	0	1	0	0	0	13095	1087	38	1	927	1	RAI1	17	17697187	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1241430	17697187	63498023	53	17349											
KRT37	8688	broad.mit.edu	37	chr17	39577227	39577227	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaggcgtggaacagggaTtgcaggggagtctgcaggga	10	5	20	6	1	1	0	0	0	1	0	1	4	1	4	0	7	3	3	0	7	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:39577227T>C	uc002hwp.1	-	6	1300	c.1253A>G	c.(1252-1254)aAt>aGt	p.N418S		NM_003770	NP_003761	O76014	KRT37_HUMAN	Homo sapiens keratin 37 (KRT37), mRNA.	418	Tail.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				GGAACAGGGATTGCAGGGGAG	0.547													C	39577227	T	C	39577227	3	2	248	1	0	0	0	0	1	0	0	0	8532	1493	52	3	100	3	KRT37	17	39577227	Missense_Mutation	SNP	T	TCGA-41-3915-01A-01D-1353-08	21880040	39577227	41617983	54	17350											
STXBP4	252983	broad.mit.edu	37	chr17	53237217	53237217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtcctgaatctatctcGctcagaggagaatgaagagg	12	9	13	7	1	3	5	1	2	2	3	5	7	4	5	1	2	0	1	1	2	4	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:53237217G>A	uc002iuf.1	+	17	1814	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H	STXBP4_uc010dcd.1_Missense_Mutation_p.R514H	NM_178509	NP_848604	Q6ZWJ1	STXB4_HUMAN	Homo sapiens syntaxin binding protein 4 (STXBP4), mRNA.	536						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						AATCTATCTCGCTCAGAGGAG	0.438													A	53237217	G	A	53237217	3	1	248	1	0	0	0	0	1	0	0	0	15451	1087	38	1	1669	1	STXBP4	17	53237217	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	13659990	53237217	27957993	55	17351											
CBX2	84733	broad.mit.edu	37	chr17	77758112	77758112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcggcctcgggctggacctGaaggtgaggacgcagaaagg	9	5	18	9	3	0	3	0	2	0	1	1	5	0	5	2	6	1	2	2	6	2	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr17:77758112G>A	uc002jxc.3	+	4	928	c.870G>A	c.(868-870)ctG>ctA	p.L290L		NM_005189	NP_005180	Q14781	CBX2_HUMAN	Homo sapiens chromobox homolog 2 (CBX2), transcript variant 1, mRNA.	290					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGGACCTGAAGGTGAGGA	0.637													A	77758112	G	A	77758112	2	1	248	1	0	0	0	0	0	0	0	1	2744	1277	45	2		2	CBX2	17	77758112	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	24520895	77758112	3437098	56	17352											
SPPL2B	56928	broad.mit.edu	37	chr19	2339146	2339146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacatggtcatcatcttcAtcatggctgtgggcaccgtc	9	11	9	12	1	5	0	4	0	1	0	6	0	5	0	1	3	1	2	1	3	1	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:2339146A>G	uc002lvs.3	+	4	618	c.538A>G	c.(538-540)Atc>Gtc	p.I180V	SPPL2B_uc010dsw.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsy.1_Missense_Mutation_p.I152V|SPPL2B_uc010dsz.1_Missense_Mutation_p.I180V|SPPL2B_uc002lvr.3_Missense_Mutation_p.I180V|SPPL2B_uc010dta.1_Missense_Mutation_p.I33V|SPPL2B_uc002lvu.3_5'Flank	NM_152988	NP_694533	Q8TCT7	PSL1_HUMAN	Homo sapiens signal peptide peptidase-like 2B (SPPL2B), transcript variant 2, mRNA.	180						Golgi membrane|integral to membrane	aspartic-type endopeptidase activity						Hepatocellular(1079;0.137)		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)		CATCATCTTCATCATGGCTGT	0.632													G	2339146	A	G	2339146	3	3	248	1	0	0	0	0	1	0	0	0	15185	217	8	3	556	3	SPPL2B	19	2339146	Missense_Mutation	SNP	A	TCGA-41-3915-01A-01D-1353-08		2339146	56789837	57	17353											
FBXL12	54850	broad.mit.edu	37	chr19	9921852	9921852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcccctcacggtcagcCggatcttgcgcacatctcgg	7	7	12	15	4	4	1	2	0	2	1	5	2	4	2	3	4	2	1	3	4	0	1			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:9921852C>T	uc002mme.3	-	2	943	c.701G>A	c.(700-702)cGg>cAg	p.R234Q	FBXL12_uc002mmd.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmf.3_Missense_Mutation_p.R181Q|FBXL12_uc002mmg.3_Missense_Mutation_p.R181Q	NM_017703	NP_060173	Q9NXK8	FXL12_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 12 (FBXL12), mRNA.	234							protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(2)	10						CACGGTCAGCCGGATCTTGCG	0.667													T	9921852	C	T	9921852	3	4	248	1	0	0	0	0	1	0	0	0	5757	652	23	1	283	1	FBXL12	19	9921852	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	7582706	9921852	49207131	58	17354											
S1PR5	53637	broad.mit.edu	37	chr19	10625052	10625052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggcagtagatgcgcgcGtagagtgcacagatagcggc	10	6	15	10	4	0	3	0	0	0	3	0	3	0	3	1	2	3	4	1	2	3	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:10625052G>A	uc021uox.1	-	0	636	c.636C>T	c.(634-636)taC>taT	p.Y212Y	S1PR5_uc002mot.2_Silent_p.Y212Y|S1PR5_uc002mou.2_Silent_p.Y212Y	NM_030760	NP_110387	Q9H228	S1PR5_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 5 (S1PR5), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGATGCGCGCGTAGAGTGCAC	0.697													A	10625052	G	A	10625052	2	1	248	1	0	0	0	0	0	0	0	1	13888	1140	40	1		1	S1PR5	19	10625052	Silent	SNP	G	TCGA-41-3915-01A-01D-1353-08	703200	10625052	48503931	59	17355											
USHBP1	83878	broad.mit.edu	37	chr19	17361108	17361108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcccttgcagtggcttCgagcaccgccacctcctcgg	5	7	12	17	3	0	0	0	0	0	0	3	1	1	0	5	3	2	3	5	3	0	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:17361108C>T	uc002nfs.1	-	12	2151	c.2038G>A	c.(2038-2040)Gaa>Aaa	p.E680K	USHBP1_uc002nfr.1_Missense_Mutation_p.E306K|USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.E616K	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	680							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCAGTGGCTTCGAGCACCGCC	0.657													T	17361108	C	T	17361108	3	4	248	1	0	0	0	0	1	0	0	0	17139	893	31	1	77	1	USHBP1	19	17361108	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08	6736056	17361108	41767875	60	17356											
IRGC	56269	broad.mit.edu	37	chr19	44223763	44223763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctctattcccagtcgtcCgacggcgccatgcgggtggc	4	8	14	15	6	1	0	0	0	1	0	4	1	3	0	3	4	1	1	3	4	1	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:44223763C>T	uc002oxh.3	+	1	1200	c.1053C>T	c.(1051-1053)tcC>tcT	p.S351S	IRGC_uc021uvh.1_Silent_p.S351S	NM_019612	NP_062558	Q6NXR0	IIGP5_HUMAN	Homo sapiens immunity-related GTPase family, cinema (IRGC), mRNA.	351						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				CCCAGTCGTCCGACGGCGCCA	0.657													T	44223763	C	T	44223763	2	4	248	1	0	0	0	0	0	0	0	1	7896	639	23	1		1	IRGC	19	44223763	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	26862655	44223763	14905220	61	17357											
BCAM	4059	broad.mit.edu	37	chr19	45322375	45322375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggcagctggagggaaggaGacgaagtcacactcatctgc	12	6	14	9	1	3	1	2	0	1	1	3	5	3	3	0	4	2	2	0	4	2	0			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45322375G>A	uc002ozu.3	+	10	1443	c.1399G>A	c.(1399-1401)Gac>Aac	p.D467N	BCAM_uc002ozt.1_Missense_Mutation_p.D467N	NM_005581	NP_005572	P50895	BCAM_HUMAN	Homo sapiens basal cell adhesion molecule (Lutheran blood group) (BCAM), transcript variant 1, mRNA.	467	Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				GAGGGAAGGAGACGAAGTCAC	0.597													A	45322375	G	A	45322375	3	1	248	1	0	0	0	0	1	0	0	0	1349	942	33	2	1441	2	BCAM	19	45322375	Missense_Mutation	SNP	G	TCGA-41-3915-01A-01D-1353-08	1098612	45322375	13806608	62	17358											
RELB	5971	broad.mit.edu	37	chr19	45515222	45515222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgagtacatcaaggagaaCggcttcggcctggacggggg	10	5	17	9	4	1	1	1	0	0	1	2	5	1	2	1	6	2	2	1	6	3	2			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr19:45515222C>T	uc021uvq.1	+	3	323	c.192C>T	c.(190-192)aaC>aaT	p.N64N	RELB_uc021uvp.1_Silent_p.N61N	NM_006509	NP_006500	Q01201	RELB_HUMAN	Homo sapiens v-rel reticuloendotheliosis viral oncogene homolog B (RELB), mRNA.	64	Leucine-zipper.					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		TCAAGGAGAACGGCTTCGGCC	0.577													T	45515222	C	T	45515222	2	4	248	1	0	0	0	0	0	0	0	1	13305	535	19	1		1	RELB	19	45515222	Silent	SNP	C	TCGA-41-3915-01A-01D-1353-08	192847	45515222	13613761	63	17359											
ID1	3397	broad.mit.edu	37	chr20	30193855	30193855	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttcttctcgttttcacaGgcggcatgcgttcctgcgga	5	14	10	12	4	3	0	1	0	2	0	5	1	4	1	1	3	2	3	1	3	0	5			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chr20:30193855G>A	uc002wwg.2	+	2	532	c.427_splice	c.e2-1	p.A143_splice	ID1_uc002wwh.2_3'UTR|MIR3193_uc021wbt.1_5'Flank	NM_002165	NP_002156	P41134	ID1_HUMAN	Homo sapiens inhibitor of DNA binding 1, dominant negative helix-loop-helix protein (ID1), transcript variant 1, mRNA.	143					angiogenesis|blood vessel endothelial cell migration|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by transcription factor localization|transforming growth factor beta receptor signaling pathway	cytoplasm	protein binding			endometrium(2)|ovary(1)|pancreas(1)	4	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.99e-05)|all cancers(5;0.000169)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CGTTTTCACAGGCGGCATGCG	0.652													A	30193855	G	A	30193855	5	1	248	1	0	0	0	0	0	0	1	0	7547	1014	35	2	456	2	ID1	20	30193855	Splice_Site	SNP	G	TCGA-41-3915-01A-01D-1353-08		30193855	32831665	64	17360											
ATP11C	286410	broad.mit.edu	37	chrX	138867417	138867417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaattacactcatacgtCgccggacagcatcaaagttt	13	10	6	12	3	3	0	3	0	0	0	4	1	3	1	1	1	3	2	1	1	4	3			TCGA-41-3915-01A-01D-1353-08	TCGA-41-3915-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83b1f0ed-3277-4bed-bfaa-a45952e6d833	dd9c946a-f5bf-4aa0-abfd-e56eb172f68e	g.chrX:138867417C>A	uc004faz.3	-	15	1742	c.1643G>T	c.(1642-1644)cGa>cTa	p.R548L	ATP11C_uc004fay.3_Non-coding_Transcript|ATP11C_uc004fba.3_Missense_Mutation_p.R548L	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	548					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTCATACGTCGCCGGACAGC	0.338													A	138867417	C	A	138867417	3	1	248	1	0	0	0	0	1	0	0	0	1126	884	31	4	1878	4	ATP11C	23	138867417	Missense_Mutation	SNP	C	TCGA-41-3915-01A-01D-1353-08		138867417	16403143	65	17361											
ACTRT2	140625	broad.mit.edu	37	chr1	2938845	2938845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcatgcagctgctcctgGccagcggccacaccttcccc	5	8	8	20	1	1	0	1	0	0	0	4	0	4	0	7	2	4	3	7	2	0	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:2938845G>T	uc001ajz.3	+	0	800	c.595G>T	c.(595-597)Gcc>Tcc	p.A199S		NM_080431	NP_536356	Q8TDY3	ACTT2_HUMAN	Homo sapiens actin-related protein T2 (ACTRT2), mRNA.	199						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GCTGCTCCTGGCCAGCGGCCA	0.617													T	2938845	G	T	2938845	3	4	249	1	0	0	0	0	1	0	0	0	219	1203	42	4	597	4	ACTRT2	1	2938845	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		2938845	246311776	1	17362											
TPRG1L	127262	broad.mit.edu	37	chr1	3545150	3545150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggctactccatgaccaggGgcaaaataggcttttagccg	10	9	12	10	1	0	1	0	1	0	0	1	1	1	1	3	4	2	3	3	4	5	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:3545150G>A	uc001akm.3	+	4	883	c.802G>A	c.(802-804)Ggc>Agc	p.G268S	TPRG1L_uc009vlj.3_Missense_Mutation_p.G209S	NM_182752	NP_877429	Q5T0D9	TPRGL_HUMAN	Homo sapiens tumor protein p63 regulated 1-like (TPRG1L), mRNA.	268						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		CATGACCAGGGGCAAAATAGG	0.612													A	3545150	G	A	3545150	3	1	249	1	0	0	0	0	1	0	0	0	16520	1232	43	2	820	2	TPRG1L	1	3545150	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	606305	3545150	245705471	2	17363											
PCSK9	255738	broad.mit.edu	37	chr1	55523733	55523733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagccatgatgctgtctgCcgagccggagctcaccctgg	6	8	13	14	2	2	1	1	1	1	0	2	3	2	2	4	2	6	3	4	2	0	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:55523733C>T	uc001cyf.2	+	7	1567	c.1205C>T	c.(1204-1206)gCc>gTc	p.A402V	PCSK9_uc010oom.2_Non-coding_Transcript	NM_174936	NP_777596	Q8NBP7	PCSK9_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 9 (PCSK9), mRNA.	402	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding	p.S401C(1)		NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						ATGCTGTCTGCCGAGCCGGAG	0.612													T	55523733	C	T	55523733	3	4	249	1	0	0	0	0	1	0	0	0	11682	739	26	2	1235	2	PCSK9	1	55523733	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	51978583	55523733	193726888	3	17364											
ADAM30	11085	broad.mit.edu	37	chr1	120436835	120436835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttcctatcacttgccGgaaaaacacaaaaaccactg	14	9	7	11	1	1	0	1	0	0	0	2	1	2	1	3	2	3	1	3	2	5	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:120436835G>A	uc001eij.3	-	0	2313	c.2125C>T	c.(2125-2127)Cgg>Tgg	p.R709W		NM_021794	NP_068566	Q9UKF2	ADA30_HUMAN	Homo sapiens ADAM metallopeptidase domain 30 (ADAM30), mRNA.	709					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		ATCACTTGCCGGAAAAACACA	0.393													A	120436835	G	A	120436835	3	1	249	1	0	0	0	0	1	0	0	0	248	1115	39	1	251	1	ADAM30	1	120436835	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	64913102	120436835	128813786	4	17365											
PDC	5132	broad.mit.edu	37	chr1	186413476	186413476	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagttccttttcaattgTttctaggaattgctttccag	7	19	6	9	0	3	0	2	0	1	0	5	1	5	1	2	1	1	3	2	1	3	9			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:186413476T>G	uc001gsa.3	-	3	449	c.376A>C	c.(376-378)Aca>Cca	p.T126P	MIR548F1_uc021pgf.1_Intron|PDC_uc001grz.3_Missense_Mutation_p.T74P	NM_002597	NP_072098	P20941	PHOS_HUMAN	Homo sapiens phosducin (PDC), transcript variant 1, mRNA.	126					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		TTTTCAATTGTTTCTAGGAAT	0.398													G	186413476	T	G	186413476	3	3	249	1	0	0	0	0	1	0	0	0	11690	1725	60	5	368	5	PDC	1	186413476	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	65976641	186413476	62837145	5	17366											
RYR2	6262	broad.mit.edu	37	chr1	237550598	237550598	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacttgtcttatggcaaCggcagcttacacgtggatgc	9	10	11	11	2	1	0	0	0	1	0	1	1	1	1	0	3	5	4	0	3	3	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr1:237550598C>T	uc001hyl.1	+	8	714	c.594C>T	c.(592-594)aaC>aaT	p.N198N		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	198	MIR 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G197S(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTATGGCAACGGCAGCTTAC	0.498													T	237550598	C	T	237550598	2	4	249	1	0	0	0	0	0	0	0	1	13860	535	19	1		1	RYR2	1	237550598	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	51137122	237550598	11700023	6	17367											
APOB	338	broad.mit.edu	37	chr2	21227177	21227177	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttccatttagaaaagtcGtcatcttcatccatatccat	13	14	4	10	1	3	1	2	0	1	1	7	1	6	1	3	0	0	1	3	0	5	5	rs12713501	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:21227177G>A	uc002red.3	-	27	12179	c.12051C>T	c.(12049-12051)gaC>gaT	p.D4017D		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	4017					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.D4017D(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGAAAAGTCGTCATCTTCAT	0.512													A	21227177	G	A	21227177	2	1	249	1	0	0	0	0	0	0	0	1	788	1136	40	1		1	APOB	2	21227177	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08		21227177	221972196	7	17368											
LCT	3938	broad.mit.edu	37	chr2	136566637	136566637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgatgacggcgtgggCtatcctatatggtgcccagc	6	11	14	10	2	0	2	0	2	0	0	1	2	1	2	2	4	2	2	2	4	3	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:136566637C>T	uc002tuu.1	-	7	3291	c.3280G>A	c.(3280-3282)Gcc>Acc	p.A1094T		NM_002299	NP_002290	P09848	LPH_HUMAN	Homo sapiens lactase (LCT), mRNA.	1094	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACGGCGTGGGCTATCCTATAT	0.542													T	136566637	C	T	136566637	3	4	249	1	0	0	0	0	1	0	0	0	8752	797	28	2	2543	2	LCT	2	136566637	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	115339460	136566637	106632736	8	17369											
TTN	7273	broad.mit.edu	37	chr2	179392028	179392028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcttcaattttaggcGgaattcctttatggaacaat	13	13	9	6	1	1	1	1	0	0	1	2	4	2	3	1	3	2	1	1	3	7	6			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:179392028G>A	uc021vsy.1	-	311	100208	c.99983C>T	c.(99982-99984)cCg>cTg	p.P33328L	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.P27023L|TTN_uc021vta.1_Missense_Mutation_p.P26956L|TTN_uc021vtb.1_Missense_Mutation_p.P26831L|TTN_uc002umq.3_Missense_Mutation_p.P244L	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	34255	Ig-like 146.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTTAGGCGGAATTCCTTT	0.378													A	179392028	G	A	179392028	3	1	249	1	0	0	0	0	1	0	0	0	16837	1116	39	1	292	1	TTN	2	179392028	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	42825391	179392028	63807345	9	17370											
ALPP	250	broad.mit.edu	37	chr2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCgccaggtgatgggggctggc	7	6	20	8	2	0	1	0	1	0	0	0	3	0	2	1	7	2	3	1	7	2	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233245025C>T	uc002vsq.3	+	5	952	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C		NM_001632	NP_001623	P05187	PPB1_HUMAN	Homo sapiens alkaline phosphatase, placental (ALPP), mRNA.	263			R -> H (in dbSNP:rs2853378).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.R263C(2)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667													T	233245025	C	T	233245025	3	4	249	1	0	0	0	0	1	0	0	0	548	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	53852997	233245025	9954348	10	17371											
ALPPL2	251	broad.mit.edu	37	chr2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCaccaggtgatgggggctggt	8	7	19	7	1	0	1	0	1	0	0	0	3	0	2	1	7	2	4	1	7	2	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr2:233273106C>T	uc002vss.4	+	5	831	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313	NP_112603	P10696	PPBN_HUMAN	Homo sapiens alkaline phosphatase, placental-like 2 (ALPPL2), mRNA.	260				H -> R (in Ref. 8; AAH14139).	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTGGCGAAGCACCAGGTGAT	0.662													T	233273106	C	T	233273106	3	4	249	1	0	0	0	0	1	0	0	0	549	710	25	2	800	2	ALPPL2	2	233273106	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	28081	233273106	9926267	11	17372											
DHX30	22907	broad.mit.edu	37	chr3	47882649	47882649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacccagcaggattcccacGctccactcagggactcaagg	10	6	10	15	1	2	1	2	1	0	0	4	3	4	3	3	3	1	2	3	3	1	1	rs138418233	by1000genomes	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:47882649G>A	uc003cru.3	+	6	1075	c.649G>A	c.(649-651)Gct>Act	p.A217T	DHX30_uc003crs.2_Missense_Mutation_p.A178T|DHX30_uc003crt.3_Missense_Mutation_p.A178T|DHX30_uc010hjr.1_Missense_Mutation_p.A245T	NM_138615	NP_619520	Q7L2E3	DHX30_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 30 (DHX30), transcript variant 1, mRNA.	217						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GGATTCCCACGCTCCACTCAG	0.552													A	47882649	G	A	47882649	3	1	249	1	0	0	0	0	1	0	0	0	4543	1087	38	1	678	1	DHX30	3	47882649	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		47882649	150139781	12	17373											
LAMP3	27074	broad.mit.edu	37	chr3	182872086	182872086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgctggacaggtttttttAtgtcctgtactgttgctgct	4	19	11	7	0	0	0	0	0	0	0	1	1	1	1	1	2	4	7	1	2	2	7			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr3:182872086A>G	uc003flh.4	-	1	367	c.143T>C	c.(142-144)aTa>aCa	p.I48T		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	48					cell proliferation	integral to membrane|lysosomal membrane		p.I48T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGGTTTTTTTATGTCCTGTAC	0.428													G	182872086	A	G	182872086	3	3	249	1	0	0	0	0	1	0	0	0	8678	449	16	3	1127	3	LAMP3	3	182872086	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	134989437	182872086	15150344	13	17374											
UTP3	57050	broad.mit.edu	37	chr4	71555475	71555475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgctgctgcctgtgctGttacagatctttctgatgat	5	17	9	10	0	3	3	0	2	3	1	3	3	3	3	1	0	5	4	1	0	1	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:71555475G>A	uc003hfo.3	+	0	1280	c.1081G>A	c.(1081-1083)Gtt>Att	p.V361I		NM_020368	NP_065101	Q9NQZ2	SAS10_HUMAN	Homo sapiens UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae) (UTP3), mRNA.	361					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			TGCCTGTGCTGTTACAGATCT	0.363													A	71555475	G	A	71555475	3	1	249	1	0	0	0	0	1	0	0	0	17203	1377	48	2	1083	2	UTP3	4	71555475	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		71555475	119598801	14	17375											
ANKRD17	26057	broad.mit.edu	37	chr4	73951059	73951059	+	Frame_Shift_Del	DEL	C	C	-																															gggtgctcctccaaggggtgCcccaggtccgtacatctgac																										TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:73951059delC	uc003hgp.3	-	29	7183	c.7066delG	c.(7066-7068)gcafs	p.A2356fs	ANKRD17_uc003hgo.3_Frame_Shift_Del_p.A2243fs|ANKRD17_uc003hgq.3_Frame_Shift_Del_p.A2105fs|ANKRD17_uc003hgr.3_Frame_Shift_Del_p.A2355fs	NM_032217	NP_115593	O75179	ANR17_HUMAN	Homo sapiens ankyrin repeat domain 17 (ANKRD17), transcript variant 1, mRNA.	2356					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CCAAGGGGTGCCCCAGGTCCG	0.463													-	73951059	C	-	73951059	7	5	249	1	0	1	0	1	0	0	0	0	646	739	26	0	765	0	ANKRD17	4	73951059	Frame_Shift_Del	DEL	C	TCGA-41-4097-01A-01D-1353-08	2395584	73951059	117203217	15	17376											
TRIML1	339976	broad.mit.edu	37	chr4	189068417	189068417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctcatctacagcttccCgcaggcttctttccaagagg	8	11	7	15	1	3	1	1	0	2	1	6	1	6	1	3	2	2	3	3	2	2	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr4:189068417C>T	uc003izm.1	+	5	1413	c.1298C>T	c.(1297-1299)cCg>cTg	p.P433L	TRIML1_uc003izn.1_Missense_Mutation_p.P157L	NM_178556	NP_848651	Q8N9V2	TRIML_HUMAN	Homo sapiens tripartite motif family-like 1 (TRIML1), mRNA.	433	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TACAGCTTCCCGCAGGCTTCT	0.522													T	189068417	C	T	189068417	3	4	249	1	0	0	0	0	1	0	0	0	16651	652	23	1	1320	1	TRIML1	4	189068417	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	115117358	189068417	2085859	16	17377											
IL31RA	133396	broad.mit.edu	37	chr5	55210699	55210699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactcatctgtgttggccCaccgttcccaaccctgctga	6	12	8	15	1	2	2	1	2	1	0	3	2	3	2	4	1	2	3	4	1	1	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:55210699C>T	uc003jql.3	+	13	1953	c.1761C>T	c.(1759-1761)ccC>ccT	p.P587P	IL31RA_uc003jqm.3_Silent_p.P568P|IL31RA_uc003jqn.3_Silent_p.P587P|IL31RA_uc021xyq.1_Silent_p.P568P|IL31RA_uc003jqo.3_Silent_p.P445P	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	555					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TGTGTTGGCCCACCGTTCCCA	0.423													T	55210699	C	T	55210699	2	4	249	1	0	0	0	0	0	0	0	1	7749	581	21	2		2	IL31RA	5	55210699	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		55210699	125704561	17	17378											
MAST4	375449	broad.mit.edu	37	chr5	66462447	66462447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctctgcagccagcagCgacacctcttctgccaaggc	8	6	11	16	1	3	0	0	0	3	0	3	2	3	0	4	2	5	2	4	2	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:66462447C>T	uc021xzk.1	+	28	7748	c.7440C>T	c.(7438-7440)agC>agT	p.S2480S	MAST4_uc003jut.2_Silent_p.S2291S|MAST4_uc003juw.3_Silent_p.S2219S|MAST4_uc003jux.3_Silent_p.S44S	NM_001164664	NP_001158136	O15021	MAST4_HUMAN	Homo sapiens microtubule associated serine/threonine kinase family member 4 (MAST4), transcript variant 3, mRNA.	2483						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		CAGCCAGCAGCGACACCTCTT	0.652											OREG0016638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	66462447	C	T	66462447	2	4	249	1	0	0	0	0	0	0	0	1	9402	767	27	1		1	MAST4	5	66462447	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	11251748	66462447	114452813	18	17379											
TTC37	9652	broad.mit.edu	37	chr5	94838702	94838702	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaatagacaaggctctctCataggctgttacatagaagt	15	10	8	8	0	2	2	1	0	1	2	3	2	2	2	0	2	2	3	0	2	8	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:94838702C>G	uc003klb.3	-	31	3520	c.3223G>C	c.(3223-3225)Gag>Cag	p.E1075Q		NM_014639	NP_055454	Q6PGP7	TTC37_HUMAN	Homo sapiens tetratricopeptide repeat domain 37 (TTC37), mRNA.	1075							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						AAGGCTCTCTCATAGGCTGTT	0.368													G	94838702	C	G	94838702	3	3	249	1	0	0	0	0	1	0	0	0	16807	835	29	4	1519	4	TTC37	5	94838702	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	28376255	94838702	86076558	19	17380											
FBN2	2201	broad.mit.edu	37	chr5	127611828	127611828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgtagttgcatggtttcGgggactgggagcattcatca	9	12	14	6	1	2	1	2	0	0	1	3	3	2	3	0	4	2	5	0	4	1	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:127611828G>T	uc003kuu.3	-	58	7935	c.7496C>A	c.(7495-7497)cCg>cAg	p.P2499Q		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2499	EGF-like 42; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCATGGTTTCGGGGACTGGGA	0.433													T	127611828	G	T	127611828	3	4	249	1	0	0	0	0	1	0	0	0	5752	1116	39	4	1270	4	FBN2	5	127611828	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	32773126	127611828	53303432	20	17381											
ATP10B	23120	broad.mit.edu	37	chr5	160047790	160047790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcatcatctctctcatcCgagtctgtggtggccacgtt	6	13	10	12	2	4	0	2	0	3	0	7	2	5	0	2	2	1	2	2	2	0	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr5:160047790C>T	uc003lym.1	-	14	2827	c.1980G>A	c.(1978-1980)tcG>tcA	p.S660S	ATP10B_uc010jit.1_5'UTR|ATP10B_uc003lyn.3_Silent_p.S218S	NM_025153	NP_079429	O94823	AT10B_HUMAN	Homo sapiens ATPase, class V, type 10B (ATP10B), mRNA.	660					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTCTCTCATCCGAGTCTGTGG	0.572													T	160047790	C	T	160047790	2	4	249	1	0	0	0	0	0	0	0	1	1122	639	23	1		1	ATP10B	5	160047790	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	32435962	160047790	20867470	21	17382											
NKAPL	222698	broad.mit.edu	37	chr6	28228340	28228340	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtgcacaaaaagacaaaAgagaaagatgacaagtaagg	22	4	11	4	0	0	4	0	1	0	3	0	5	0	4	0	2	1	2	0	2	7	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28228340A>G	uc003nkt.3	+	0	1243	c.1191A>G	c.(1189-1191)aaA>aaG	p.K397K	ZKSCAN4_uc011dlb.1_5'Flank	NM_001007531	NP_001007532	Q5M9Q1	NKAPL_HUMAN	Homo sapiens NFKB activating protein-like (NKAPL), mRNA.	397										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AAAAGACAAAAGAGAAAGATG	0.368													G	28228340	A	G	28228340	2	3	249	1	0	0	0	0	0	0	0	1	10516	69	3	3		3	NKAPL	6	28228340	Silent	SNP	A	TCGA-41-4097-01A-01D-1353-08		28228340	142886727	22	17383											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28333384	28333384	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgccacaggagggaggcgGcacatctgccatgaatgtgg	11	6	15	9	1	1	1	0	1	1	0	1	3	1	3	2	5	2	1	2	5	2	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:28333384G>A	uc010jrc.3	+	6	1272	c.939G>A	c.(937-939)cgG>cgA	p.R313R	ZKSCAN3_uc003nle.4_Silent_p.R313R|ZKSCAN3_uc003nlf.4_Silent_p.R165R	NM_001242894	NP_001229823	Q9BRR0	ZKSC3_HUMAN	Homo sapiens zinc finger with KRAB and SCAN domains 3 (ZKSCAN3), transcript variant 1, mRNA.	313					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GAGGGAGGCGGCACATCTGCC	0.493													A	28333384	G	A	28333384	2	1	249	1	0	0	0	0	0	0	0	1	17789	1190	42	2		2	ZKSCAN3	6	28333384	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	105044	28333384	142781683	23	17384											
MDC1	9656	broad.mit.edu	37	chr6	30671653	30671653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggcaggctcaggaatGgctgtaagggattcagctgc	10	7	17	7	0	2	1	2	0	0	1	2	4	2	3	0	6	2	5	0	6	2	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:30671653G>A	uc003nrg.4	-	9	5747	c.5307C>T	c.(5305-5307)gcC>gcT	p.A1769A	MDC1_uc003nrf.4_Intron|MDC1_uc011dmp.1_Silent_p.A1376A	NM_014641	NP_055456	Q14676	MDC1_HUMAN	Homo sapiens mediator of DNA-damage checkpoint 1 (MDC1), mRNA.	1769	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GCTCAGGAATGGCTGTAAGGG	0.542								Other conserved DNA damage response genes					A	30671653	G	A	30671653	2	1	249	1	0	0	0	0	0	0	0	1	9478	1335	47	2		2	MDC1	6	30671653	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	2338269	30671653	140443414	24	17385											
AIF1	199	broad.mit.edu	37	chr6	31584614	31584614	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcctgatgtatgaggaaaaAgcgagagaaaaggaaaagcc	19	5	12	5	1	0	3	0	2	0	1	1	7	1	5	2	2	2	1	2	2	7	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:31584614A>G	uc003nuy.3	+	5	455	c.381A>G	c.(379-381)aaA>aaG	p.K127K	AIF1_uc010jsy.3_3'UTR|AIF1_uc003nva.3_Silent_p.K73K	NM_001623	NP_116573	P55008	AIF1_HUMAN	Homo sapiens allograft inflammatory factor 1 (AIF1), transcript variant 3, mRNA.	127					actin filament bundle assembly|cell cycle arrest|inflammatory response|negative regulation of cell proliferation	nucleus|ruffle membrane	actin filament binding|calcium ion binding			lung(2)|ovary(1)	3						ATGAGGAAAAAGCGAGAGAAA	0.493													G	31584614	A	G	31584614	2	3	249	1	0	0	0	0	0	0	0	1	424	69	3	3		3	AIF1	6	31584614	Silent	SNP	A	TCGA-41-4097-01A-01D-1353-08	912961	31584614	139530453	25	17386											
C6orf70	55780	broad.mit.edu	37	chr6	170156477	170156477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaaagtctacaatctcCtgctatttctcttagcttaa	10	16	5	10	0	3	0	0	0	3	0	5	1	3	1	1	1	3	2	1	1	6	6			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr6:170156477C>A	uc003qxg.1	+	3	392	c.359C>A	c.(358-360)cCt>cAt	p.P120H	C6orf70_uc011ehb.1_5'UTR|C6orf70_uc003qxh.1_Missense_Mutation_p.P120H|C6orf70_uc010kky.1_5'UTR	NM_018341	NP_060811	Q5T6L9	CF070_HUMAN	Homo sapiens chromosome 6 open reading frame 70 (C6orf70), mRNA.	120						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(1)	20		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.2e-22)|BRCA - Breast invasive adenocarcinoma(81;1.49e-07)|GBM - Glioblastoma multiforme(31;0.00191)		CTACAATCTCCTGCTATTTCT	0.348													A	170156477	C	A	170156477	3	1	249	1	0	0	0	0	1	0	0	0	2393	681	24	4	373	4	C6orf70	6	170156477	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	138571863	170156477	958590	26	17387											
IQCE	23288	broad.mit.edu	37	chr7	2613077	2613077	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccctgggactcctgtctaCagagaaaaagaagatatgta	14	9	10	8	0	1	3	0	0	1	3	3	5	3	4	2	1	1	1	2	1	6	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:2613077C>A	uc003sml.1	+	5	604	c.420C>A	c.(418-420)taC>taA	p.Y140*	IQCE_uc010ksm.1_Nonsense_Mutation_p.Y140*|IQCE_uc011jvy.1_Nonsense_Mutation_p.Y124*|IQCE_uc011jvz.1_Nonsense_Mutation_p.Y75*|IQCE_uc003smo.4_Nonsense_Mutation_p.Y140*|IQCE_uc003smk.4_Nonsense_Mutation_p.Y124*|IQCE_uc003smn.4_Nonsense_Mutation_p.Y75*	NM_152558	NP_689771	Q6IPM2	IQCE_HUMAN	Homo sapiens IQ motif containing E (IQCE), transcript variant 1, mRNA.	140										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)		CTCCTGTCTACAGAGAAAAAG	0.343													A	2613077	C	A	2613077	4	1	249	1	0	0	0	0	0	1	0	0	7864	489	17	4	442	4	IQCE	7	2613077	Nonsense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		2613077	156525586	27	17388											
MMD2	221938	broad.mit.edu	37	chr7	4947054	4947054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaccttggtctgcagggtGctgggcagatagaggtacct	8	9	15	9	0	1	2	0	0	1	2	1	3	1	2	2	4	3	4	2	4	2	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:4947054G>T	uc003sno.4	-	6	982	c.786C>A	c.(784-786)agC>agA	p.S262R	MMD2_uc003snl.1_Intron|MMD2_uc003snn.4_Missense_Mutation_p.S238R|MMD2_uc010ksq.3_3'UTR	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN	Homo sapiens monocyte to macrophage differentiation-associated 2 (MMD2), transcript variant 1, mRNA.	262						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		TCTGCAGGGTGCTGGGCAGAT	0.542													T	4947054	G	T	4947054	3	4	249	1	0	0	0	0	1	0	0	0	9719	1310	46	4	30	4	MMD2	7	4947054	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2333977	4947054	154191609	28	17389											
MLL3	58508	broad.mit.edu	37	chr7	151945049	151945049	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagctggtttacccatgcCaatttttggagtgactgaga	11	13	10	7	0	0	2	0	2	0	1	0	4	0	3	2	2	3	2	2	2	4	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr7:151945049C>G	uc003wla.3	-	13	2689	c.2470G>C	c.(2470-2472)Ggc>Cgc	p.G824R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	824					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.I823fs*5(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		TTACCCATGCCAATTTTTGGA	0.408			N		medulloblastoma								G	151945049	C	G	151945049	3	3	249	1	0	0	0	0	1	0	0	0	9697	594	21	4	12449	4	MLL3	7	151945049	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	146997995	151945049	7193614	29	17390											
ARHGEF10	9639	broad.mit.edu	37	chr8	1871746	1871746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaattcagttacagcttcCcgggaagcaggacaagttag	13	8	11	9	1	1	1	1	0	0	1	2	3	2	3	1	2	3	4	1	2	5	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:1871746C>T	uc003wpr.3	+	19	2550	c.2372C>T	c.(2371-2373)cCc>cTc	p.P791L	ARHGEF10_uc003wpq.1_Missense_Mutation_p.P815L|ARHGEF10_uc003wps.3_Missense_Mutation_p.P753L|ARHGEF10_uc003wpv.3_Missense_Mutation_p.P524L|ARHGEF10_uc010lre.3_Missense_Mutation_p.P471L	NM_014629	NP_055444	O15013	ARHGA_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 10 (ARHGEF10), mRNA.	816					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TTACAGCTTCCCGGGAAGCAG	0.423													T	1871746	C	T	1871746	3	4	249	1	0	0	0	0	1	0	0	0	897	623	22	2	2446	2	ARHGEF10	8	1871746	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		1871746	144492276	30	17391											
CSPP1	79848	broad.mit.edu	37	chr8	68024278	68024278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgttggaacaaatggctGagcaacagaggaacaagaga	18	5	12	6	0	0	3	0	1	0	2	0	6	0	5	0	3	5	3	0	3	6	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:68024278G>A	uc003xxi.3	+	10	1328	c.1297G>A	c.(1297-1299)Gag>Aag	p.E433K	CSPP1_uc003xxg.1_Missense_Mutation_p.E425K|CSPP1_uc003xxh.1_Non-coding_Transcript|CSPP1_uc003xxj.3_Missense_Mutation_p.E398K|CSPP1_uc003xxk.3_Missense_Mutation_p.E104K	NM_024790	NP_079066	Q1MSJ5	CSPP1_HUMAN	Homo sapiens centrosome and spindle pole associated protein 1 (CSPP1), mRNA.	433						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACAAATGGCTGAGCAACAGAG	0.353													A	68024278	G	A	68024278	3	1	249	1	0	0	0	0	1	0	0	0	3995	1291	45	2	1339	2	CSPP1	8	68024278	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	66152532	68024278	78339744	31	17392											
SULF1	23213	broad.mit.edu	37	chr8	70512942	70512942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttacaaacattctacagcGcaaaaggctccagactttga	15	10	6	10	1	1	2	0	1	1	1	2	2	2	2	1	1	4	2	1	1	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:70512942G>A	uc003xyg.2	+	7	1400	c.839G>A	c.(838-840)cGc>cAc	p.R280H	SULF1_uc010lza.1_Missense_Mutation_p.R280H|SULF1_uc003xyd.2_Missense_Mutation_p.R280H|SULF1_uc003xye.2_Missense_Mutation_p.R280H|SULF1_uc003xyf.2_Missense_Mutation_p.R280H|SULF1_uc003xyh.1_Non-coding_Transcript	NM_001128206	NP_055985	Q8IWU6	SULF1_HUMAN	Homo sapiens sulfatase 1 (SULF1), transcript variant 2, mRNA.	280					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			ATTCTACAGCGCAAAAGGCTC	0.433													A	70512942	G	A	70512942	3	1	249	1	0	0	0	0	1	0	0	0	15466	1087	38	1	857	1	SULF1	8	70512942	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2488664	70512942	75851080	32	17393											
ZFHX4	79776	broad.mit.edu	37	chr8	77617628	77617628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtctgagtctagcaagatGtcagagagcaaagaccaaga	15	7	11	8	1	3	5	1	1	2	4	4	6	3	5	1	0	2	2	1	0	4	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:77617628G>A	uc003yau.2	+	1	1692	c.1305G>A	c.(1303-1305)atG>atA	p.M435I	ZFHX4_uc003yat.1_Missense_Mutation_p.M435I|ZFHX4_uc003yaw.1_Missense_Mutation_p.M435I	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	435						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTAGCAAGATGTCAGAGAGCA	0.488										HNSCC(33;0.089)			A	77617628	G	A	77617628	3	1	249	1	0	0	0	0	1	0	0	0	17736	1377	48	2	1307	2	ZFHX4	8	77617628	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	7104686	77617628	68746394	33	17394											
RGS22	26166	broad.mit.edu	37	chr8	101018320	101018320	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggagtctaactgtcgagtTtcttccaccagctccaccta	8	12	8	13	1	2	0	0	0	2	0	5	2	4	1	4	1	2	2	4	1	2	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr8:101018320T>C	uc003yjb.1	-	15	2574	c.2379A>G	c.(2377-2379)gaA>gaG	p.E793E	RGS22_uc003yja.1_Silent_p.E612E|RGS22_uc003yjc.1_Silent_p.E781E|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc022azf.1_Silent_p.E182E	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	793					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			ACTGTCGAGTTTCTTCCACCA	0.373													C	101018320	T	C	101018320	2	2	249	1	0	0	0	0	0	0	0	1	13394	1838	64	3		3	RGS22	8	101018320	Silent	SNP	T	TCGA-41-4097-01A-01D-1353-08	23400692	101018320	45345702	34	17395											
ANKS6	203286	broad.mit.edu	37	chr9	101530526	101530526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacaagacattgtctatgCtgccacctgaggaaacacaa	14	7	10	10	0	1	2	0	1	1	1	1	4	1	4	2	2	3	1	2	2	4	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:101530526C>T	uc004ayu.3	-	10	2000	c.1979G>A	c.(1978-1980)aGc>aAc	p.S660N	ANKS6_uc004ayv.2_Missense_Mutation_p.S122N|ANKS6_uc004ayx.2_Non-coding_Transcript|ANKS6_uc004ayy.2_Non-coding_Transcript|ANKS6_uc004ayt.3_Missense_Mutation_p.S359N	NM_173551	NP_775822	Q68DC2	ANKS6_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 6 (ANKS6), mRNA.	660	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				ATTGTCTATGCTGCCACCTGA	0.537													T	101530526	C	T	101530526	3	4	249	1	0	0	0	0	1	0	0	0	692	797	28	2	656	2	ANKS6	9	101530526	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		101530526	39682905	35	17396											
OR13C4	138804	broad.mit.edu	37	chr9	107288582	107288582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatattttatagcagctttTacatctttatttctcaagct	12	19	3	7	0	2	0	1	0	2	0	3	0	2	0	0	0	4	3	0	0	7	9			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:107288582T>C	uc011lvn.2	-	0	909	c.909A>G	c.(907-909)gtA>gtG	p.V303V		NM_001001919	NP_001001919	Q8NGS5	O13C4_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 4 (OR13C4), mRNA.	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V303L(1)		breast(1)|large_intestine(2)|lung(14)|skin(1)	18						TAGCAGCTTTTACATCTTTAT	0.373													C	107288582	T	C	107288582	2	2	249	1	0	0	0	0	0	0	0	1	11012	1741	61	3		3	OR13C4	9	107288582	Silent	SNP	T	TCGA-41-4097-01A-01D-1353-08	5758056	107288582	33924849	36	17397											
SARDH	1757	broad.mit.edu	37	chr9	136594905	136594905	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaatcccctcgatgcgCtcggtgacgacataggcatg	9	8	11	13	4	0	2	0	2	0	0	3	4	1	2	3	2	1	2	3	2	2	1	rs141160856	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr9:136594905C>G	uc004cep.4	-	5	1031	c.897G>C	c.(895-897)gaG>gaC	p.E299D	SARDH_uc004ceo.3_Missense_Mutation_p.E299D|SARDH_uc011mdo.2_Missense_Mutation_p.E131D|SARDH_uc011mdn.2_Missense_Mutation_p.E299D	NM_001134707	NP_009032	Q9UL12	SARDH_HUMAN	Homo sapiens sarcosine dehydrogenase (SARDH), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	299					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CCTCGATGCGCTCGGTGACGA	0.632													G	136594905	C	G	136594905	3	3	249	1	0	0	0	0	1	0	0	0	13933	796	28	4	1923	4	SARDH	9	136594905	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	29306323	136594905	4618526	37	17398											
ZMIZ1	57178	broad.mit.edu	37	chr10	81066012	81066012	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgcccaatgtcatggAgatgatcgcagccctgggcc	9	8	12	12	1	2	2	2	1	0	1	3	4	2	2	3	2	2	1	3	2	1	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:81066012A>C	uc001kaf.2	+	21	3151	c.2579A>C	c.(2578-2580)gAg>gCg	p.E860A	ZMIZ1_uc001kag.2_Missense_Mutation_p.E736A|ZMIZ1_uc010qlq.1_Missense_Mutation_p.E13A	NM_020338	NP_065071	Q9ULJ6	ZMIZ1_HUMAN	Homo sapiens zinc finger, MIZ-type containing 1 (ZMIZ1), mRNA.	860					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AATGTCATGGAGATGATCGCA	0.612													C	81066012	A	C	81066012	3	2	249	1	0	0	0	0	1	0	0	0	17797	304	11	5	2649	5	ZMIZ1	10	81066012	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08		81066012	54468735	38	17399											
PTEN	5728	broad.mit.edu	37	chr10	89690814	89690814	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttagttgtgctgaaaGacattatgacaccgccaaat	12	14	7	8	1	1	3	0	2	1	1	1	3	1	3	2	0	1	2	2	0	4	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:89690814G>C	uc001kfb.3	+	3	1253	c.221G>C	c.(220-222)aGa>aCa	p.R74T	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	74	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(6)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.E73fs*25(2)|p.Y27fs*1(2)|p.R74fs*25(2)|p.Y27_N212>Y(2)|p.E73*(1)|p.R74I(1)|p.E73fs*4(1)|p.E73V(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TGTGCTGAAAGACATTATGAC	0.313		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89690814	G	C	89690814	3	2	249	1	0	0	0	0	1	0	0	0	12823	942	33	4	235	4	PTEN	10	89690814	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	8624802	89690814	45843933	39	17400											
PRLHR	2834	broad.mit.edu	37	chr10	120354176	120354176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgataggtgtgcacggcgGcgggcagcgccagcaccgcg	6	4	18	13	7	0	1	0	1	0	0	0	1	0	1	2	4	3	3	2	4	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:120354176G>A	uc001ldp.1	-	1	720	c.581C>T	c.(580-582)gCc>gTc	p.A194V	PRLHR_uc021pzm.1_Missense_Mutation_p.A194V	NM_004248	NP_004239	P49683	PRLHR_HUMAN	Homo sapiens prolactin releasing hormone receptor (PRLHR), mRNA.	194				A -> P (in Ref. 1; AAC50504).	female pregnancy	integral to plasma membrane	neuropeptide Y receptor activity			large_intestine(2)|lung(8)|ovary(1)|skin(1)	12		Colorectal(252;0.0429)|Lung NSC(174;0.142)|all_lung(145;0.175)		all cancers(201;0.0166)		GTGCACGGCGGCGGGCAGCGC	0.716													A	120354176	G	A	120354176	3	1	249	1	0	0	0	0	1	0	0	0	12616	1203	42	2	535	2	PRLHR	10	120354176	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	30663362	120354176	15180571	40	17401											
INPP5A	3632	broad.mit.edu	37	chr10	134523875	134523875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaatatccatcttttccatGatgcttccaatctggtcgcc	8	15	6	12	1	2	2	0	2	2	0	6	2	5	2	4	1	1	1	4	1	3	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr10:134523875G>C	uc001llp.3	+	7	810	c.562G>C	c.(562-564)Gat>Cat	p.D188H	INPP5A_uc001llo.1_Missense_Mutation_p.D188H|INPP5A_uc001llq.3_Missense_Mutation_p.D140H	NM_005539	NP_005530	Q14642	I5P1_HUMAN	Homo sapiens inositol polyphosphate-5-phosphatase, 40kDa (INPP5A), mRNA.	188					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		TCTTTTCCATGATGCTTCCAA	0.562													C	134523875	G	C	134523875	3	2	249	1	0	0	0	0	1	0	0	0	7812	1290	45	4	592	4	INPP5A	10	134523875	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	14169699	134523875	1010872	41	17402											
BBOX1	8424	broad.mit.edu	37	chr11	27114719	27114719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttatcaattcacagaatgCcaatactggggctcagagct	12	12	8	9	0	3	2	3	0	0	2	3	2	3	2	1	2	3	2	1	2	5	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:27114719C>T	uc001mre.1	+	4	707	c.339C>T	c.(337-339)tgC>tgT	p.C113C	BBOX1_uc009yih.1_Silent_p.C113C|BBOX1_uc001mrg.1_Silent_p.C113C|BBOX1_uc021qfd.1_Silent_p.C113C	NM_003986	NP_003977	O75936	BODG_HUMAN	Homo sapiens butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1 (BBOX1), mRNA.	113					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	TCACAGAATGCCAATACTGGG	0.393													T	27114719	C	T	27114719	2	4	249	1	0	0	0	0	0	0	0	1	1339	747	26	2		2	BBOX1	11	27114719	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		27114719	107891797	42	17403											
SYT13	57586	broad.mit.edu	37	chr11	45274269	45274269	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtcgtggttgctggtCacagctgcaggcaaggagaa	8	8	14	11	2	1	1	1	0	0	1	3	2	2	1	2	4	3	5	2	4	2	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:45274269C>A	uc001myq.2	-	3	675	c.549G>T	c.(547-549)gtG>gtT	p.V183V	SYT13_uc009yku.1_Silent_p.V39V	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	183	C2 1.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						GGTTGCTGGTCACAGCTGCAG	0.587											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45274269	C	A	45274269	2	1	249	1	0	0	0	0	0	0	0	1	15566	813	29	4		4	SYT13	11	45274269	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	18159550	45274269	89732247	43	17404											
KCTD14	65987	broad.mit.edu	37	chr11	77728030	77728030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccaaagatctgtGgcatgtcctccagcagcttg	8	10	9	14	0	2	1	1	0	1	1	4	1	4	1	4	1	3	4	4	1	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:77728030G>A	uc001oyw.4	-	1	402	c.377C>T	c.(376-378)cCa>cTa	p.P126L	NDUFC2-KCTD14_uc021qnr.1_3'UTR|NDUFC2-KCTD14_uc021qns.1_3'UTR|NDUFC2-KCTD14_uc021qnt.1_3'UTR	NM_023930	NP_076419	Q9BQ13	KCD14_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 14 (KCTD14), mRNA.	126	BTB.					voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			AAAGATCTGTGGCATGTCCTC	0.567													A	77728030	G	A	77728030	3	1	249	1	0	0	0	0	1	0	0	0	8159	1348	47	2	394	2	KCTD14	11	77728030	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	32453761	77728030	57278486	44	17405											
KDM4D	55693	broad.mit.edu	37	chr11	94731105	94731105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtggaaaaccacgtttgCttggcatacagaggacatgg	12	9	12	8	1	0	1	0	0	0	1	0	3	0	3	1	4	3	3	1	4	3	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:94731105C>T	uc021qow.1	+	0	569	c.569C>T	c.(568-570)gCt>gTt	p.A190V	KDM4D_uc001pfe.3_Missense_Mutation_p.A190V	NM_018039	NP_060509	Q6B0I6	KDM4D_HUMAN	Homo sapiens lysine (K)-specific demethylase 4D (KDM4D), mRNA.	190	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACCACGTTTGCTTGGCATACA	0.512													T	94731105	C	T	94731105	3	4	249	1	0	0	0	0	1	0	0	0	8189	797	28	2	571	2	KDM4D	11	94731105	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	17003075	94731105	40275411	45	17406											
MLL	4297	broad.mit.edu	37	chr11	118359396	118359396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagaacgagcgccctcTggaggaccagctggaaaatt	13	5	14	9	2	1	2	0	0	1	2	1	7	1	5	2	4	3	1	2	4	3	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:118359396T>C	uc001pta.3	+	10	4423	c.4400T>C	c.(4399-4401)cTg>cCg	p.L1467P	MLL_uc001ptb.3_Missense_Mutation_p.L1467P|MLL_uc001pte.1_Non-coding_Transcript	NM_005933	NP_005924	Q03164	MLL1_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila) (MLL), transcript variant 2, mRNA.	1467					apoptosis|embryonic hemopoiesis|histone H4-K16 acetylation|positive regulation of transcription, DNA-dependent|protein complex assembly|transcription from RNA polymerase II promoter	MLL1 complex	AT DNA binding|histone acetyl-lysine binding|histone methyltransferase activity (H3-K4 specific)|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|unmethylated CpG binding|zinc ion binding			breast(5)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(29)|lung(34)|ovary(6)|pancreas(3)|prostate(8)|skin(6)|urinary_tract(19)	131	all_hematologic(175;0.046)	all_hematologic(192;1.13e-50)|all_neural(223;3.18e-06)|Breast(348;1.07e-05)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.244)		OV - Ovarian serous cystadenocarcinoma(223;2.77e-44)|BRCA - Breast invasive adenocarcinoma(274;1.2e-11)|Lung(307;3.48e-06)|LUSC - Lung squamous cell carcinoma(976;7.92e-05)|Colorectal(284;0.144)		GAGCGCCCTCTGGAGGACCAG	0.433			"T, O"	"MLL, MLLT1, MLLT2, MLLT3, MLLT4, MLLT7, MLLT10, MLLT6, ELL, EPS15, AF1Q, CREBBP, SH3GL1, FNBP1, PNUTL1, MSF, GPHN, GMPS, SSH3BP1, ARHGEF12, GAS7, FOXO3A, LAF4, LCX, SEPT6, LPP, CBFA2T1, GRAF, EP300, PICALM, HEAB"	"AML, ALL"								C	118359396	T	C	118359396	3	2	249	1	0	0	0	0	1	0	0	0	9695	1580	55	3	4442	3	MLL	11	118359396	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	23628291	118359396	16647120	46	17407											
OR4D5	219875	broad.mit.edu	37	chr11	123810626	123810626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtggatgcctgactcaactCttcttcttccacttcattgg	6	15	8	12	0	5	1	2	1	3	0	6	2	6	2	2	3	2	0	2	3	1	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123810626C>T	uc001pzk.1	+	0	303	c.303C>T	c.(301-303)ctC>ctT	p.L101L		NM_001001965	NP_001001965	Q8NGN0	OR4D5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily D, member 5 (OR4D5), mRNA.	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGACTCAACTCTTCTTCTTCC	0.507													T	123810626	C	T	123810626	2	4	249	1	0	0	0	0	0	0	0	1	11133	900	32	2		2	OR4D5	11	123810626	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	5451230	123810626	11195890	47	17408											
OR10S1	219873	broad.mit.edu	37	chr11	123847863	123847863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccacagtagagcaggCggaaggtgagggaggtgtgg	11	4	20	6	1	0	2	0	1	0	1	0	4	0	4	1	7	1	2	1	7	3	1	rs141270826		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:123847863C>T	uc001pzm.1	-	0	536	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_001004474	NP_001004474	Q8NGN2	O10S1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily S, member 1 (OR10S1), mRNA.	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R179C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTAGAGCAGGCGGAAGGTGAG	0.552													T	123847863	C	T	123847863	3	4	249	1	0	0	0	0	1	0	0	0	10994	768	27	1	463	1	OR10S1	11	123847863	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	37237	123847863	11158653	48	17409											
PATE2	399967	broad.mit.edu	37	chr11	125648646	125648646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagagcagaaagactgtgCccaggagaaagagaacaagc	17	2	14	8	0	0	5	0	0	0	5	0	7	0	5	1	2	4	2	1	2	4	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr11:125648646C>T	uc001qcu.3	-	0	69	c.23G>A	c.(22-24)gGc>gAc	p.G8D	PATE2_uc010sbj.2_Missense_Mutation_p.G8D	NM_212555	NP_997720	Q6UY27	PATE2_HUMAN	Homo sapiens prostate and testis expressed 2 (PATE2), mRNA.	8						extracellular space				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)	6						AAAGACTGTGCCCAGGAGAAA	0.522													T	125648646	C	T	125648646	3	4	249	1	0	0	0	0	1	0	0	0	11550	739	26	2	334	2	PATE2	11	125648646	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	1800783	125648646	9357870	49	17410											
ANO2	57101	broad.mit.edu	37	chr12	5687643	5687643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggcaaacacaggtgccagggGaaaggaggccacgaagaggg	14	1	18	8	1	0	1	0	0	0	1	0	4	0	3	2	7	2	1	2	7	3	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:5687643G>C	uc001qnm.2	-	21	2347	c.2275C>G	c.(2275-2277)Ccc>Gcc	p.P759A		NM_020373	NP_065106	Q9NQ90	ANO2_HUMAN	Homo sapiens anoctamin 2 (ANO2), mRNA.	764						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GGTGCCAGGGGAAAGGAGGCC	0.537													C	5687643	G	C	5687643	3	2	249	1	0	0	0	0	1	0	0	0	697	1174	41	4	741	4	ANO2	12	5687643	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		5687643	128164252	50	17411											
MLL2	8085	broad.mit.edu	37	chr12	49432573	49432573	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcagacgggtggaaattcCcgccaacggggaacctaggg	10	5	16	10	3	0	1	0	0	0	1	1	3	1	3	3	6	2	1	3	6	4	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:49432573C>G	uc001rta.4	-	33	8566	c.8566G>C	c.(8566-8568)Gga>Cga	p.G2856R		NM_003482	NP_003473	O14686	MLL2_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 2 (MLL2), mRNA.	2856					chromatin silencing|histone H3-K4 methylation|oocyte growth|positive regulation of cell proliferation|positive regulation of estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to estrogen stimulus|transcription, DNA-dependent	histone methyltransferase complex	histone-lysine N-methyltransferase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(38)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(121)|kidney(35)|large_intestine(22)|lung(78)|ovary(3)|pancreas(2)|prostate(13)|skin(7)|stomach(3)|upper_aerodigestive_tract(9)|urinary_tract(5)	366						GTGGAAATTCCCGCCAACGGG	0.597			"N, F, Mis"		"medulloblastoma, renal"					HNSCC(34;0.089)			G	49432573	C	G	49432573	3	3	249	1	0	0	0	0	1	0	0	0	9696	632	22	4	8131	4	MLL2	12	49432573	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	43744930	49432573	84419322	51	17412											
CALCOCO1	57658	broad.mit.edu	37	chr12	54105903	54105903	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagggtacccactgtaaagCcactaagagagacagagggg	15	4	13	9	0	0	3	0	0	0	3	0	4	0	3	2	3	2	2	2	3	4	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:54105903C>G	uc001sef.3	-	14	2045	c.1901G>C	c.(1900-1902)gGc>gCc	p.G634A	CALCOCO1_uc001see.3_Missense_Mutation_p.G159A|CALCOCO1_uc010som.2_Missense_Mutation_p.G549A|CALCOCO1_uc010son.2_Missense_Mutation_p.G511A|CALCOCO1_uc009znd.3_Missense_Mutation_p.G633A|CALCOCO1_uc001seg.3_Missense_Mutation_p.G459A|CALCOCO1_uc001seh.2_3'UTR	NM_020898	NP_065949	Q9P1Z2	CACO1_HUMAN	Homo sapiens calcium binding and coiled-coil domain 1 (CALCOCO1), transcript variant 1, mRNA.	634	C-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CACTGTAAAGCCACTAAGAGA	0.577													G	54105903	C	G	54105903	3	3	249	1	0	0	0	0	1	0	0	0	2603	739	26	4	178	4	CALCOCO1	12	54105903	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	4673330	54105903	79745992	52	17413											
SUOX	6821	broad.mit.edu	37	chr12	56398139	56398139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctttgagggactggaCtcagaccctactgggactgc	7	10	13	11	0	2	2	1	1	1	1	2	5	2	5	1	3	3	1	1	3	1	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:56398139C>G	uc001six.3	+	5	1292	c.966C>G	c.(964-966)gaC>gaG	p.D322E	SUOX_uc001siy.3_Missense_Mutation_p.D322E|SUOX_uc001siz.3_Missense_Mutation_p.D322E|SUOX_uc001sja.3_Missense_Mutation_p.D322E	NM_000456	NP_001027559	P51687	SUOX_HUMAN	Homo sapiens sulfite oxidase (SUOX), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322	Molybdenum-pterin domain (By similarity).|Molybdenum-pterin-binding (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AGGGACTGGACTCAGACCCTA	0.607													G	56398139	C	G	56398139	3	3	249	1	0	0	0	0	1	0	0	0	15491	564	20	4	976	4	SUOX	12	56398139	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	2292236	56398139	77453756	53	17414											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450952	85450952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgtggcccttgggataCtttacagcaggtatttctaa	9	14	10	8	1	1	0	0	0	1	0	2	2	1	1	1	3	3	2	1	3	4	7			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:85450952C>G	uc001tac.3	+	7	2492	c.2381C>G	c.(2380-2382)aCt>aGt	p.T794S	LRRIQ1_uc021rbo.1_Missense_Mutation_p.T672S|LRRIQ1_uc001taa.1_Missense_Mutation_p.T769S	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	794										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CCTTGGGATACTTTACAGCAG	0.313													G	85450952	C	G	85450952	3	3	249	1	0	0	0	0	1	0	0	0	9099	565	20	4	2407	4	LRRIQ1	12	85450952	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	29052813	85450952	48400943	54	17415											
ISCU	23479	broad.mit.edu	37	chr12	108962628	108962628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggctgaagatgcaatcaAggccgccctggctgattaca	10	8	12	11	1	1	3	1	2	0	1	1	3	1	3	2	3	2	4	2	3	4	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:108962628A>G	uc010sxc.2	+	4	545	c.440A>G	c.(439-441)aAg>aGg	p.K147R	ISCU_uc010sxb.1_3'UTR|ISCU_uc001tnc.4_Missense_Mutation_p.K122R|ISCU_uc009zuy.3_3'UTR|ISCU_uc010sxd.2_3'UTR|ISCU_uc021rdk.1_5'Flank	NM_213595	NP_998760	Q9H1K1	ISCU_HUMAN	Homo sapiens iron-sulfur cluster scaffold homolog (E. coli) (ISCU), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	147					iron-sulfur cluster assembly|nitrogen fixation	cytosol|mitochondrion|nucleus	iron ion binding|iron-sulfur cluster binding|protein complex scaffold			kidney(2)|large_intestine(2)|lung(4)|prostate(2)|urinary_tract(1)	11						GATGCAATCAAGGCCGCCCTG	0.478													G	108962628	A	G	108962628	3	3	249	1	0	0	0	0	1	0	0	0	7910	72	3	3	383	3	ISCU	12	108962628	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	23511676	108962628	24889267	55	17416											
HNF1A	6927	broad.mit.edu	37	chr12	121426701	121426701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacaacatcccacagcGggaggtggtcgataccactg	11	5	12	13	2	0	0	0	0	0	0	2	2	1	1	2	3	4	2	2	3	2	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:121426701G>T	uc001tzg.3	+	1	415	c.392G>T	c.(391-393)cGg>cTg	p.R131L	HNF1A_uc021rex.1_Intron|HNF1A_uc021rey.1_Intron|HNF1A_uc021rez.1_Intron|HNF1A_uc001tze.2_Missense_Mutation_p.R131L|HNF1A_uc001tzf.3_Missense_Mutation_p.R131L|HNF1A_uc010szn.2_Missense_Mutation_p.R131L|HNF1A_uc021rfa.1_Missense_Mutation_p.R131L|HNF1A_uc021rfb.1_Intron|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	131	Interaction with DNA.		R -> Q (in MODY3; expected to interfere with DNA binding).|R -> W (in MODY3; expected to interfere with DNA binding).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.R131W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					ATCCCACAGCGGGAGGTGGTC	0.622									Hepatic Adenoma, Familial Clustering of				T	121426701	G	T	121426701	3	4	249	1	0	0	0	0	1	0	0	0	7306	1116	39	4	398	4	HNF1A	12	121426701	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	12464073	121426701	12425194	56	17417											
GOLGA3	2802	broad.mit.edu	37	chr12	133383767	133383767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgaacgtccgttacctgaCtcgcctccagtgacaaggct	8	9	10	14	4	0	2	0	2	0	0	4	3	2	2	4	1	2	2	4	1	3	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr12:133383767C>T	uc001ukz.1	-	5	1845	c.1286G>A	c.(1285-1287)aGt>aAt	p.S429N	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S429N|GOLGA3_uc001ulb.3_Missense_Mutation_p.S429N	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	429					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		CGTTACCTGACTCGCCTCCAG	0.547													T	133383767	C	T	133383767	3	4	249	1	0	0	0	0	1	0	0	0	6610	565	20	2	3424	2	GOLGA3	12	133383767	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	11957066	133383767	468128	57	17418											
GSX1	219409	broad.mit.edu	37	chr13	28367747	28367747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagcaagaggatgcgcacgGctttcaccagcacgcagctg	10	5	13	13	3	1	1	1	0	0	1	1	2	1	2	1	2	4	7	1	2	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:28367747G>A	uc001urr.1	+	1	505	c.457G>A	c.(457-459)Gct>Act	p.A153T		NM_145657	NP_663632	Q9H4S2	GSX1_HUMAN	Homo sapiens GS homeobox 1 (GSX1), mRNA.	153					positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		GATGCGCACGGCTTTCACCAG	0.577													A	28367747	G	A	28367747	3	1	249	1	0	0	0	0	1	0	0	0	6904	1203	42	2	463	2	GSX1	13	28367747	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		28367747	86802131	58	17419											
NBEA	26960	broad.mit.edu	37	chr13	35883701	35883701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagaagaatgcaggacttGcatttattgagctcatcaat	13	13	8	7	0	3	3	3	1	0	2	3	4	3	4	0	1	3	3	0	1	4	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr13:35883701G>C	uc021rid.1	+	35	6409	c.5875G>C	c.(5875-5877)Gca>Cca	p.A1959P	NBEA_uc021ric.1_Missense_Mutation_p.A1956P|NBEA_uc010abi.3_Missense_Mutation_p.A615P	NM_015678	NP_056493	Q8NFP9	NBEA_HUMAN	Homo sapiens neurobeachin (NBEA), transcript variant 1, mRNA.	1959						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGCAGGACTTGCATTTATTGA	0.343													C	35883701	G	C	35883701	3	2	249	1	0	0	0	0	1	0	0	0	10263	1319	46	4	6017	4	NBEA	13	35883701	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	7515954	35883701	79286177	59	17420											
RNF31	55072	broad.mit.edu	37	chr14	24620756	24620756	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctccaggcattgttccaGcacggaggtgatgtgtcacg	7	11	12	11	2	2	1	1	1	1	0	5	2	4	2	2	3	1	3	2	3	0	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:24620756G>C	uc001wmn.1	+	9	2049	c.1800G>C	c.(1798-1800)caG>caC	p.Q600H	RNF31_uc001wml.1_Missense_Mutation_p.Q449H|RNF31_uc001wmm.1_Intron|RNF31_uc010alg.1_Missense_Mutation_p.Q359H|RNF31_uc001wmo.1_Missense_Mutation_p.Q67H|RNF31_uc001wmp.3_Non-coding_Transcript	NM_017999	NP_060469	Q96EP0	RNF31_HUMAN	Homo sapiens ring finger protein 31 (RNF31), mRNA.	600	Interaction with RBCK1.|UBA.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		CATTGTTCCAGCACGGAGGTG	0.627													C	24620756	G	C	24620756	3	2	249	1	0	0	0	0	1	0	0	0	13578	962	34	4	1838	4	RNF31	14	24620756	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		24620756	82728784	60	17421											
GPR65	8477	broad.mit.edu	37	chr14	88477519	88477519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcctcacctgcattgccGttgatcggtatttggctgtt	5	16	9	11	2	1	1	1	1	0	0	3	1	2	1	3	2	2	5	3	2	1	6	rs142375010	byFrequency	TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:88477519G>A	uc021rxh.1	+	0	328	c.328G>A	c.(328-330)Gtt>Att	p.V110I	GPR65_uc001xvv.3_Missense_Mutation_p.V110I	NM_003608	NP_003599	Q8IYL9	PSYR_HUMAN	Homo sapiens G protein-coupled receptor 65 (GPR65), mRNA.	110					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity	p.A109V(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						CTGCATTGCCGTTGATCGGTA	0.433													A	88477519	G	A	88477519	3	1	249	1	0	0	0	0	1	0	0	0	6760	1145	40	1	330	1	GPR65	14	88477519	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	63856763	88477519	18872021	61	17422											
AHNAK2	113146	broad.mit.edu	37	chr14	105405535	105405535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaagggctgtatcaatattgGcctctggacactgcacttcc	10	11	9	11	0	2	0	1	0	1	0	3	1	3	1	2	3	1	3	2	3	4	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr14:105405535G>A	uc010axc.1	-	6	16373	c.16253C>T	c.(16252-16254)gCc>gTc	p.A5418V	AHNAK2_uc021sen.1_Missense_Mutation_p.A815V|AHNAK2_uc021seo.1_Missense_Mutation_p.A416V|AHNAK2_uc001ypx.2_Missense_Mutation_p.A5318V	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	5418						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCAATATTGGCCTCTGGACA	0.557													A	105405535	G	A	105405535	3	1	249	1	0	0	0	0	1	0	0	0	415	1203	42	2	1138	2	AHNAK2	14	105405535	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	16928016	105405535	1944005	62	17423											
SECISBP2L	9728	broad.mit.edu	37	chr15	49284790	49284790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcttcttcttcaagcatgCcaggtacaagagtgctggtg	8	13	10	10	0	4	1	1	0	3	1	4	1	4	1	1	2	4	3	1	2	3	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:49284790C>T	uc001zxe.2	-	17	3221	c.2957G>A	c.(2956-2958)gGc>gAc	p.G986D	SECISBP2L_uc001zxd.2_Missense_Mutation_p.G941D	NM_001193489	NP_001180418	Q93073	SBP2L_HUMAN	Homo sapiens SECIS binding protein 2-like (SECISBP2L), transcript variant 1, mRNA.	986										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						ttcAAGCATGCCAGGTACAAG	0.468													T	49284790	C	T	49284790	3	4	249	1	0	0	0	0	1	0	0	0	14100	739	26	2	352	2	SECISBP2L	15	49284790	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		49284790	53246602	63	17424											
SLC27A2	11001	broad.mit.edu	37	chr15	50497504	50497504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgcagaaaatacaacGtcactgtcattcagtatatc	15	11	6	9	1	3	2	3	1	0	1	4	2	3	2	0	0	3	2	0	0	6	4	rs141444028		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:50497504G>A	uc001zxw.3	+	3	1148	c.916G>A	c.(916-918)Gtc>Atc	p.V306I	SLC27A2_uc010bes.3_Missense_Mutation_p.V253I|SLC27A2_uc001zxx.3_Missense_Mutation_p.V71I	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	306					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		AAAATACAACGTCACTGTCAT	0.428													A	50497504	G	A	50497504	3	1	249	1	0	0	0	0	1	0	0	0	14620	1145	40	1	930	1	SLC27A2	15	50497504	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	1212714	50497504	52033888	64	17425											
C15orf39	56905	broad.mit.edu	37	chr15	75501019	75501019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagctgcggcccaccaCgctgtcggaggagcgggcac	6	5	17	13	4	0	0	0	0	0	0	1	3	0	3	2	5	3	3	2	5	0	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:75501019C>T	uc002azp.4	+	1	2950	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	C15orf39_uc002azq.4_Missense_Mutation_p.T877M|C15orf39_uc021sqm.1_Missense_Mutation_p.T636M|C15orf39_uc002azr.4_Missense_Mutation_p.T275M	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN	Homo sapiens chromosome 15 open reading frame 39 (C15orf39), mRNA.	877										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CGGCCCACCACGCTGTCGGAG	0.667													T	75501019	C	T	75501019	3	4	249	1	0	0	0	0	1	0	0	0	1806	536	19	1	2632	1	C15orf39	15	75501019	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	25003515	75501019	27030373	65	17426											
C15orf27	123591	broad.mit.edu	37	chr15	76484332	76484332	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatccggcagctgcgcgcGcacctggcgcagcaggacct	7	4	15	15	5	0	1	0	0	0	1	1	3	1	2	3	3	3	5	3	3	0	0			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr15:76484332G>A	uc002bbq.3	+	8	947	c.792G>A	c.(790-792)gcG>gcA	p.A264A	C15orf27_uc010bkp.3_Silent_p.A80A|C15orf27_uc002bbr.3_Silent_p.A80A|C15orf27_uc002bbs.3_5'UTR	NM_152335	NP_689548	Q2M3C6	CO027_HUMAN	Homo sapiens chromosome 15 open reading frame 27 (C15orf27), mRNA.	264						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						AGCTGCGCGCGCACCTGGCGC	0.716													A	76484332	G	A	76484332	2	1	249	1	0	0	0	0	0	0	0	1	1801	1074	38	1		1	C15orf27	15	76484332	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	983313	76484332	26047060	66	17427											
ZNF668	79759	broad.mit.edu	37	chr16	31072650	31072650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccgggtgtgagcgctcgtgCcgacgcagcagcgtcattgt	5	9	15	12	6	1	1	1	1	0	0	3	2	2	1	2	1	4	3	2	1	0	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:31072650C>T	uc021tgt.1	-	3	2024	c.1668G>A	c.(1666-1668)cgG>cgA	p.R556R	ZNF668_uc010cag.2_Silent_p.R533R|ZNF668_uc010caf.3_Silent_p.R533R|ZNF668_uc002eao.3_Silent_p.R533R	NM_001172669	NP_078982	Q96K58	ZN668_HUMAN	Homo sapiens zinc finger protein 668 (ZNF668), transcript variant 3, mRNA.	533			R -> Q (in a breast cancer sample; somatic mutation).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R556R(1)|p.R556Q(1)		breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCGCTCGTGCCGACGCAGCA	0.672													T	31072650	C	T	31072650	2	4	249	1	0	0	0	0	0	0	0	1	18176	726	26	2		2	ZNF668	16	31072650	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08		31072650	59282103	67	17428											
CPNE7	27132	broad.mit.edu	37	chr16	89655119	89655119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctccaatggagacccgCggaacagctgctccctgcac	8	5	10	18	3	0	1	0	0	0	1	2	3	2	2	5	2	4	3	5	2	2	0	rs145109453		TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr16:89655119C>T	uc002fnp.3	+	11	1319	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	CPNE7_uc002fnq.3_Missense_Mutation_p.R322W	NM_014427	NP_055242	Q9UBL6	CPNE7_HUMAN	Homo sapiens copine VII (CPNE7), transcript variant 2, mRNA.	397	VWFA.		R -> Q (in dbSNP:rs28568523).		lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TGGAGACCCGCGGAACAGCTG	0.647													T	89655119	C	T	89655119	3	4	249	1	0	0	0	0	1	0	0	0	3848	759	27	1	1235	1	CPNE7	16	89655119	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	58582469	89655119	699634	68	17429											
NF1	4763	broad.mit.edu	37	chr17	29508778	29508778	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgaatttacaaaactgtaCcagatcccacagactgatat	16	10	6	9	0	0	4	0	2	0	2	1	5	1	4	2	0	3	1	2	0	6	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:29508778C>G	uc002hgg.3	+	6	1088	c.705C>G	c.(703-705)taC>taG	p.Y235*	NF1_uc002hge.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgf.2_Nonsense_Mutation_p.Y235*|NF1_uc002hgh.3_Nonsense_Mutation_p.Y235*|NF1_uc010csn.2_Nonsense_Mutation_p.Y95*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	235					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAAAACTGTACCAGATCCCAC	0.313			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29508778	C	G	29508778	4	3	249	1	0	0	0	0	0	1	0	0	10432	518	18	4	731	4	NF1	17	29508778	Nonsense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08		29508778	51686432	69	17430											
SLC4A1	6521	broad.mit.edu	37	chr17	42330723	42330723	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgaccatcttgcgctcagGtttgctgacaatcagcctac	8	12	8	13	1	3	2	2	2	1	0	3	2	3	2	2	1	4	3	2	1	2	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:42330723G>C	uc002igf.4	-	16	2223	c.2074C>G	c.(2074-2076)Cct>Gct	p.P692A	SLC4A1_uc021tyc.1_Missense_Mutation_p.P326A	NM_000342	NP_000333	P02730	B3AT_HUMAN	Homo sapiens solute carrier family 4, anion exchanger, member 1 (erythrocyte membrane protein band 3, Diego blood group) (SLC4A1), mRNA.	692	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TTGCGCTCAGGTTTGCTGACA	0.612													C	42330723	G	C	42330723	3	2	249	1	0	0	0	0	1	0	0	0	14744	1261	44	4	677	4	SLC4A1	17	42330723	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	12821945	42330723	38864487	70	17431											
RNF213	57674	broad.mit.edu	37	chr17	78282912	78282912	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagctacttaagttttacGagctgccagccttatctgcc	10	12	7	12	1	1	0	0	0	1	0	1	1	1	0	3	0	7	3	3	0	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr17:78282912G>T	uc002jyh.2	+	14	2886	c.2743G>T	c.(2743-2745)Gag>Tag	p.E915*	RNF213_uc002jyf.3_Nonsense_Mutation_p.E866*|RNF213_uc021uen.1_Nonsense_Mutation_p.E866*|RNF213_uc002jyg.1_Nonsense_Mutation_p.E597*	NM_020914	NP_065965	Q9HCF4	ALO17_HUMAN	SubName: Full=Uncharacterized protein;	866										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TAAGTTTTACGAGCTGCCAGC	0.502													T	78282912	G	T	78282912	4	4	249	1	0	0	0	0	0	1	0	0	13568	1059	37	4	2797	4	RNF213	17	78282912	Nonsense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	35952189	78282912	2912298	71	17432											
CNDP2	55748	broad.mit.edu	37	chr18	72167228	72167228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggccctcactacccTgtttaagtacatagatgaaa	12	10	9	10	1	1	2	1	1	0	1	1	3	1	2	2	2	2	2	2	2	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr18:72167228T>C	uc002llm.2	+	1	279	c.20T>C	c.(19-21)cTg>cCg	p.L7P	CNDP2_uc021ulm.1_Non-coding_Transcript|CNDP2_uc002lln.2_Missense_Mutation_p.L7P	NM_018235	NP_060705	Q96KP4	CNDP2_HUMAN	Homo sapiens CNDP dipeptidase 2 (metallopeptidase M20 family) (CNDP2), transcript variant 1, mRNA.	7						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		CTCACTACCCTGTTTAAGTAC	0.458													C	72167228	T	C	72167228	3	2	249	1	0	0	0	0	1	0	0	0	3625	1580	55	3	22	3	CNDP2	18	72167228	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08		72167228	5910020	72	17433											
ITPKC	80271	broad.mit.edu	37	chr19	41245286	41245286	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcagctccctcctcttcGtgcacgaccacaccggcctg	6	8	9	18	3	1	0	0	0	1	0	4	1	3	0	5	2	2	3	5	2	1	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:41245286G>C	uc002oot.3	+	6	1906	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L		NM_025194	NP_079470	Q96DU7	IP3KC_HUMAN	Homo sapiens inositol-trisphosphate 3-kinase C (ITPKC), mRNA.	625						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCTCCTCTTCGTGCACGACCA	0.652													C	41245286	G	C	41245286	3	2	249	1	0	0	0	0	1	0	0	0	7977	1145	40	4	1899	4	ITPKC	19	41245286	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		41245286	17883697	73	17434											
SIGLEC5	8778	broad.mit.edu	37	chr19	52132644	52132644	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacagttctctccgtggTcacctgagctccttggcgtt	4	13	11	13	2	2	1	1	1	1	0	5	2	4	2	3	3	1	3	3	3	0	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:52132644T>A	uc002pxe.3	-	2	806	c.667A>T	c.(667-669)Acc>Tcc	p.T223S		NM_003830	NP_003821	O15389	SIGL5_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 5 (SIGLEC5), mRNA.	223	Ig-like C2-type 1.				cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTCTCCGTGGTCACCTGAGCT	0.622													A	52132644	T	A	52132644	3	1	249	1	0	0	0	0	1	0	0	0	14405	1667	58	5	1016	5	SIGLEC5	19	52132644	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08	10887358	52132644	6996339	74	17435											
LILRB3	79168	broad.mit.edu	37	chr19	54744985	54744985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccctgcagggtcaggaggGagggcttcctagacacgcct	7	6	16	12	1	1	1	1	0	0	1	2	3	2	3	3	5	1	2	3	5	1	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:54744985G>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.S226Y|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.S226Y|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.S226Y|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.S226Y|LILRB3_uc010yep.1_Missense_Mutation_p.S226Y|LILRB3_uc010yeq.1_Missense_Mutation_p.S226Y|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.S226Y|LILRB3_uc002qev.1_Missense_Mutation_p.S87Y	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTCAGGAGGGAGGGCTTCCT	0.632													T	54744985	G	T	54744985	3	4	249	1	0	0	0	0	1	0	0	0	8852	1174	41	4		4	LILRB3	19	54744985	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	2612341	54744985	4383998	75	17436											
ZNF460	10794	broad.mit.edu	37	chr19	57802944	57802944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgagtgtgggaaggccttCaactgcaggtcacacctcaa	10	9	11	11	0	3	1	3	1	0	0	3	2	3	2	2	3	2	1	2	3	3	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr19:57802944C>G	uc002qog.2	+	2	1357	c.1035C>G	c.(1033-1035)ttC>ttG	p.F345L	ZNF460_uc010ygv.1_Missense_Mutation_p.F304L	NM_006635	NP_006626	Q14592	ZN460_HUMAN	Homo sapiens zinc finger protein 460 (ZNF460), mRNA.	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GGAAGGCCTTCAACTGCAGGT	0.488													G	57802944	C	G	57802944	3	3	249	1	0	0	0	0	1	0	0	0	18025	825	29	4	1045	4	ZNF460	19	57802944	Missense_Mutation	SNP	C	TCGA-41-4097-01A-01D-1353-08	3057959	57802944	1326039	76	17437											
SCAND1	51282	broad.mit.edu	37	chr20	34542061	34542061	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgttgggactggaaggcTcaggggcaggcggtgaggcc	6	5	21	9	3	1	1	1	1	0	0	1	3	1	3	1	9	0	3	1	9	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:34542061T>C	uc002xen.2	-	1	380	c.335A>G	c.(334-336)gAg>gGg	p.E112G	SCAND1_uc021wct.1_Missense_Mutation_p.E49G|SCAND1_uc002xep.3_Missense_Mutation_p.E49G|SCAND1_uc002xeo.3_Missense_Mutation_p.E49G	NM_033630	NP_361012	P57086	SCND1_HUMAN	Homo sapiens SCAN domain containing 1 (SCAND1), transcript variant 2, mRNA.	49	SCAN box.				viral reproduction	nucleus	identical protein binding|sequence-specific DNA binding transcription factor activity					Breast(12;0.00631)|all_lung(11;0.0233)					ACTGGAAGGCTCAGGGGCAGG	0.711													C	34542061	T	C	34542061	3	2	249	1	0	0	0	0	1	0	0	0	13967	1551	54	3	397	3	SCAND1	20	34542061	Missense_Mutation	SNP	T	TCGA-41-4097-01A-01D-1353-08		34542061	28483459	77	17438											
DLGAP4	22839	broad.mit.edu	37	chr20	35060225	35060225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaacccctacctgctgtcGcccacggaggccttcgcccg	5	6	10	20	5	0	0	0	0	0	0	2	1	0	1	6	2	3	2	6	2	2	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr20:35060225G>A	uc002xff.3	+	2	540	c.105G>A	c.(103-105)tcG>tcA	p.S35S	DLGAP4_uc010zvp.2_Silent_p.S35S	NM_014902	NP_055717	Q9Y2H0	DLGP4_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 4 (DLGAP4), transcript variant 1, mRNA.	35					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				ACCTGCTGTCGCCCACGGAGG	0.701													A	35060225	G	A	35060225	2	1	249	1	0	0	0	0	0	0	0	1	4601	1074	38	1		1	DLGAP4	20	35060225	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	518164	35060225	27965295	78	17439											
SHANK3	85358	broad.mit.edu	37	chr22	51160153	51160153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagcgatgaggagaccAgggaggagctggcccgaatt	10	5	16	10	3	0	2	0	1	0	1	1	7	1	4	3	4	2	1	3	4	1	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chr22:51160153A>G	uc003bne.1	+	21	3940	c.3940A>G	c.(3940-3942)Agg>Ggg	p.R1314G	SHANK3_uc003bnf.1_Missense_Mutation_p.R761G	NM_001080420	NP_001073889	F2Z3L0	F2Z3L0_HUMAN	Homo sapiens SH3 and multiple ankyrin repeat domains 3 (SHANK3), mRNA.	1314										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TGAGGAGACCAGGGAGGAGCT	0.677													G	51160153	A	G	51160153	3	3	249	1	0	0	0	0	1	0	0	0	14360	179	7	3	4026	3	SHANK3	22	51160153	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08		51160153	144413	79	17440											
APOO	79135	broad.mit.edu	37	chrX	23899048	23899048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcaagctcaggctggctgGccccacggacctctgaatta	9	7	12	13	1	2	1	1	1	1	0	2	3	2	2	3	4	2	4	3	4	3	1			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:23899048G>A	uc004dax.3	-	1	269	c.31C>T	c.(31-33)Cca>Tca	p.P11S	APOO_uc004day.4_Non-coding_Transcript	NM_024122	NP_077027	Q9BUR5	APOO_HUMAN	Homo sapiens apolipoprotein O (APOO), transcript variant 1, mRNA.	11					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						AGGCTGGCTGGCCCCACGGAC	0.458													A	23899048	G	A	23899048	3	1	249	1	0	0	0	0	1	0	0	0	816	1203	42	2	593	2	APOO	23	23899048	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08		23899048	131371512	80	17441											
MAGEB3	4114	broad.mit.edu	37	chrX	30254384	30254384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctctaatcatgaagAcaaatatgttggtgcagttc	13	11	8	9	0	2	3	1	1	1	2	3	3	2	3	1	1	1	3	1	1	4	4			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:30254384A>G	uc022bug.1	+	0	343	c.343A>G	c.(343-345)Aca>Gca	p.T115A	MAGEB3_uc004dca.2_Missense_Mutation_p.T115A	NM_002365	NP_002356	O15480	MAGB3_HUMAN	Homo sapiens melanoma antigen family B, 3 (MAGEB3), mRNA.	115	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AATCATGAAGACAAATATGTT	0.403													G	30254384	A	G	30254384	3	3	249	1	0	0	0	0	1	0	0	0	9252	275	10	3	345	3	MAGEB3	23	30254384	Missense_Mutation	SNP	A	TCGA-41-4097-01A-01D-1353-08	6355336	30254384	125016176	81	17442											
CXorf65	158830	broad.mit.edu	37	chrX	70324148	70324148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatttggcaagtcttacCgggacactcgcagggggttc	8	10	12	11	2	2	0	1	0	1	0	4	1	2	1	1	4	1	3	1	4	2	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:70324148C>T	uc011mpo.2	-	5	658	c.426_splice	c.e5+1	p.P142_splice	CXorf65_uc011mpp.2_Splice_Site_p.P94_splice	NM_001025265	NP_001020436	A6NEN9	CX065_HUMAN	Homo sapiens chromosome X open reading frame 65 (CXorf65), transcript variant 1, mRNA.	142										breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						CAAGTCTTACCGGGACACTCG	0.517													T	70324148	C	T	70324148	2	4	249	1	0	0	0	0	0	0	0	1	4150	666	23	1		1	CXorf65	23	70324148	Silent	SNP	C	TCGA-41-4097-01A-01D-1353-08	40069764	70324148	84946412	82	17443											
STAG2	10735	broad.mit.edu	37	chrX	123182854	123182854	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgatgtgtttttttacaGcttcaggaaaatcaagatga	15	14	8	4	0	2	3	2	2	0	1	2	4	2	4	0	1	2	2	0	1	5	5			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:123182854G>T	uc004eua.3	+	10	1224	c.820_splice	c.e10-1	p.L274_splice	STAG2_uc004etz.4_Splice_Site_p.L274_splice|STAG2_uc004eub.3_Splice_Site_p.L274_splice|STAG2_uc004euc.3_Splice_Site_p.L274_splice|STAG2_uc004eud.3_Splice_Site_p.L274_splice|STAG2_uc004eue.3_Splice_Site_p.L274_splice	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	274					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TTTTTTTACAGCTTCAGGAAA	0.308													T	123182854	G	T	123182854	5	4	249	1	0	0	0	0	0	0	1	0	15339	985	34	4	849	4	STAG2	23	123182854	Splice_Site	SNP	G	TCGA-41-4097-01A-01D-1353-08	52858706	123182854	32087706	83	17444											
SPANXN4	441525	broad.mit.edu	37	chrX	142121936	142121936	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaattcaaatcaactggaGaataaccagcctacagagag	19	6	8	8	0	2	3	2	0	0	3	2	5	2	3	2	1	4	0	2	1	6	3			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:142121936G>A	uc004fbv.4	+	1	301	c.204G>A	c.(202-204)gaG>gaA	p.E68E		NM_001009613	NP_001009613	Q5MJ08	SPXN4_HUMAN	Homo sapiens SPANX family, member N4 (SPANXN4), mRNA.	68										endometrium(2)|large_intestine(2)|lung(3)|ovary(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					ATCAACTGGAGAATAACCAGC	0.413													A	142121936	G	A	142121936	2	1	249	1	0	0	0	0	0	0	0	1	15089	933	33	2		2	SPANXN4	23	142121936	Silent	SNP	G	TCGA-41-4097-01A-01D-1353-08	18939082	142121936	13148624	84	17445											
BRCC3	79184	broad.mit.edu	37	chrX	154344437	154344437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatcctgtgccaggaggaGcaggatgcgtataggaggat	12	7	16	6	1	0	1	0	0	0	1	1	6	1	6	2	5	3	2	2	5	3	2			TCGA-41-4097-01A-01D-1353-08	TCGA-41-4097-10A-01D-1353-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f6b6d1e-c6b0-4f46-a792-cdd0f755033c	fadac2f2-f59d-4e7e-a349-c65d02e9ae72	g.chrX:154344437G>C	uc004fna.3	+	8	837	c.729G>C	c.(727-729)gaG>gaC	p.E243D	BRCC3_uc004fnb.3_Missense_Mutation_p.E218D|BRCC3_uc011mzy.2_Missense_Mutation_p.E219D	NM_024332	NP_077308	P46736	BRCC3_HUMAN	Homo sapiens BRCA1/BRCA2-containing complex, subunit 3 (BRCC3), transcript variant 1, mRNA.	243					double-strand break repair|G2/M transition DNA damage checkpoint|histone H2A K63-linked deubiquitination|positive regulation of DNA repair|response to X-ray	BRCA1-A complex|BRISC complex|nuclear ubiquitin ligase complex	enzyme regulator activity|metal ion binding|metallopeptidase activity|polyubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|skin(1)	22	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCAGGAGGAGCAGGATGCGT	0.478													C	154344437	G	C	154344437	3	2	249	1	0	0	0	0	1	0	0	0	1509	962	34	4	763	4	BRCC3	23	154344437	Missense_Mutation	SNP	G	TCGA-41-4097-01A-01D-1353-08	12222501	154344437	926123	85	17446											
ZNF642	339559	broad.mit.edu	37	chr1	40945132	40945132	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggggcgcccctgtgggaGgatgtgactaaaatgtttga	9	9	17	6	1	0	2	0	2	0	0	0	5	0	4	2	4	0	1	2	4	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:40945132G>A	uc010ojk.2	+	1	393	c.99G>A	c.(97-99)gaG>gaA	p.E33E	ZNF642_uc001cfo.3_Silent_p.E33E|ZNF642_uc009vwb.3_Silent_p.E33E	NM_198494	NP_940896	Q49AA0	ZN642_HUMAN	Homo sapiens zinc finger protein 642 (ZNF642), mRNA.	33	SCAN box.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.W32fs*4(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;8.81e-19)			CCCTGTGGGAGGATGTGACTA	0.532													A	40945132	G	A	40945132	2	1	250	1	0	0	0	0	0	0	0	1	18159	991	35	2		2	ZNF642	1	40945132	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		40945132	208305489	1	17447											
FLG	2312	broad.mit.edu	37	chr1	152275826	152275826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctgattcaccctggcCggactgtgagtgtctagagc	6	9	12	14	2	2	3	1	2	1	1	2	4	2	4	4	2	1	1	4	2	1	2	rs143233744		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275826C>T	uc001ezu.1	-	2	11572	c.11536G>A	c.(11536-11538)Ggc>Agc	p.G3846S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3846	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.S3845S(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCACCCTGGCCGGACTGTGAG	0.592									Ichthyosis				T	152275826	C	T	152275826	3	4	250	1	0	0	0	0	1	0	0	0	5971	652	23	1	653	1	FLG	1	152275826	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	111330694	152275826	96974795	2	17448											
FLG	2312	broad.mit.edu	37	chr1	152275878	152275878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagcttcatggtgacgCgaccctgagtgcctggagcc	7	8	15	11	2	1	2	1	2	0	0	1	5	1	4	3	3	3	1	3	3	1	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:152275878C>T	uc001ezu.1	-	2	11520	c.11484G>A	c.(11482-11484)tcG>tcA	p.S3828S		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3828	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.G3827W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGGTGACGCGACCCTGAGT	0.587									Ichthyosis				T	152275878	C	T	152275878	2	4	250	1	0	0	0	0	0	0	0	1	5971	755	27	1		1	FLG	1	152275878	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	52	152275878	96974743	3	17449											
SPTA1	6708	broad.mit.edu	37	chr1	158627401	158627401	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaagatcattttgtcGcctagcagctcgagcacgga	9	10	11	11	3	2	1	2	0	0	1	4	3	2	2	1	2	3	4	1	2	2	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158627401G>A	uc001fst.1	-	18	2870	c.2671C>T	c.(2671-2673)Cga>Tga	p.R891*		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	891					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R891*(2)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TCATTTTGTCGCCTAGCAGCT	0.463													A	158627401	G	A	158627401	4	1	250	1	0	0	0	0	0	1	0	0	15212	1095	38	1	4724	1	SPTA1	1	158627401	Nonsense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	6351523	158627401	90623220	4	17450											
SPTA1	6708	broad.mit.edu	37	chr1	158637763	158637763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcatctcttggccagttttCtgtatgttttccagctgggt	5	18	9	9	0	3	0	1	0	2	0	5	0	4	0	2	2	1	4	2	2	1	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr1:158637763C>G	uc001fst.1	-	14	2122	c.1923G>C	c.(1921-1923)caG>caC	p.Q641H		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	641					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.I640T(1)|p.Q641R(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GGCCAGTTTTCTGTATGTTTT	0.473													G	158637763	C	G	158637763	3	3	250	1	0	0	0	0	1	0	0	0	15212	912	32	4	5488	4	SPTA1	1	158637763	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	10362	158637763	90612858	5	17451											
C2orf65	130951	broad.mit.edu	37	chr2	74842218	74842218	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaaacacccttctctcTgtaacatgcggagttctgag	10	12	8	11	1	4	2	0	2	4	0	5	3	4	3	1	1	3	2	1	1	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:74842218T>C	uc002smy.3	-	2	416	c.299A>G	c.(298-300)cAg>cGg	p.Q100R	C2orf65_uc010ysa.2_Missense_Mutation_p.Q100R|C2orf65_uc002smz.2_Missense_Mutation_p.Q100R	NM_138804	NP_620159	Q8TC57	CB065_HUMAN	Homo sapiens chromosome 2 open reading frame 65 (C2orf65), mRNA.	100					chromatin assembly|female gamete generation|RNA processing|spermatogenesis	integral to membrane				endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	21						CCCTTCTCTCTGTAACATGCG	0.483													C	74842218	T	C	74842218	3	2	250	1	0	0	0	0	1	0	0	0	2205	1580	55	3	1329	3	C2orf65	2	74842218	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08		74842218	168357155	6	17452											
IL18RAP	8807	broad.mit.edu	37	chr2	103039783	103039783	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcttgttgcaggagagCgaattaaaggatttaatatt	12	15	11	3	1	0	1	0	0	0	1	0	4	0	2	0	3	2	3	0	3	5	8			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:103039783C>T	uc002tbx.3	+	2	530	c.46C>T	c.(46-48)Cga>Tga	p.R16*	IL18RAP_uc010fiz.3_5'UTR	NM_003853	NP_003844	O95256	I18RA_HUMAN	Homo sapiens interleukin 18 receptor accessory protein (IL18RAP), mRNA.	16					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	p.R16Q(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						TGCAGGAGAGCGAATTAAAGG	0.408													T	103039783	C	T	103039783	4	4	250	1	0	0	0	0	0	1	0	0	7706	760	27	1	48	1	IL18RAP	2	103039783	Nonsense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	28197565	103039783	140159590	7	17453											
ACOXL	55289	broad.mit.edu	37	chr2	111850527	111850527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgactcccatggccagcaCgaggatcaggaatcaggtaa	12	7	11	11	1	2	1	2	1	0	0	3	4	3	3	2	4	1	2	2	4	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:111850527C>T	uc010yxk.1	+	16	1750	c.1526C>T	c.(1525-1527)aCg>aTg	p.T509M	ACOXL_uc021vmm.1_Missense_Mutation_p.T362M|ACOXL_uc021vmn.1_Missense_Mutation_p.T332M	NM_001142807	NP_001136279	Q9NUZ1	ACOXL_HUMAN	Homo sapiens acyl-CoA oxidase-like (ACOXL), mRNA.	539					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGCCAGCACGAGGATCAGG	0.483													T	111850527	C	T	111850527	3	4	250	1	0	0	0	0	1	0	0	0	161	536	19	1	1588	1	ACOXL	2	111850527	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	8810744	111850527	131348846	8	17454											
ABCA12	26154	broad.mit.edu	37	chr2	215855594	215855594	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccgagaagctgtagtcCgaaaaatacaggaacaaaat	20	6	8	7	2	0	1	0	0	0	1	1	4	1	2	2	1	4	2	2	1	9	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:215855594C>T	uc002vew.3	-	23	3676	c.3456G>A	c.(3454-3456)tcG>tcA	p.S1152S	ABCA12_uc002vev.3_Silent_p.S834S|ABCA12_uc010zjn.2_Silent_p.S79S	NM_173076	NP_775099	Q86UK0	ABCAC_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 12 (ABCA12), transcript variant 1, mRNA.	1152					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGCTGTAGTCCGAAAAATACA	0.388													T	215855594	C	T	215855594	2	4	250	1	0	0	0	0	0	0	0	1	30	639	23	1		1	ABCA12	2	215855594	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	104005067	215855594	27343779	9	17455											
GLB1L	79411	broad.mit.edu	37	chr2	220108249	220108249	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagtagcgtcaggctgAgcggcagcagcagggaacga	11	3	17	10	3	1	1	1	1	0	0	1	3	1	2	0	3	6	7	0	3	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:220108249A>T	uc002vkm.3	-	1	286	c.47T>A	c.(46-48)cTc>cAc	p.L16H	GLB1L_uc010zkx.2_Missense_Mutation_p.L16H|GLB1L_uc002vkn.3_Missense_Mutation_p.L16H|STK16_uc002vko.2_5'Flank|STK16_uc002vks.2_5'Flank|STK16_uc010zky.2_5'Flank|STK16_uc010fwf.3_5'Flank|STK16_uc002vkp.2_5'Flank	NM_024506	NP_078782	Q6UWU2	GLB1L_HUMAN	Homo sapiens galactosidase, beta 1-like (GLB1L), mRNA.	16					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCTGAGCGGCAGCAG	0.612													T	220108249	A	T	220108249	3	4	250	1	0	0	0	0	1	0	0	0	6484	304	11	5	1981	5	GLB1L	2	220108249	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	4252655	220108249	23091124	10	17456											
ACSL3	2181	broad.mit.edu	37	chr2	223781199	223781199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagctgcacaggcgtgttttAtgtataattttcagcgtatg	9	16	10	6	2	1	0	1	0	0	0	1	0	1	0	0	1	3	5	0	1	5	8			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:223781199A>G	uc002vni.3	+	4	992	c.541A>G	c.(541-543)Atg>Gtg	p.M181V	ACSL3_uc002vnj.3_Missense_Mutation_p.M181V	NM_004457	NP_976251	O95573	ACSL3_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 3 (ACSL3), transcript variant 1, mRNA.	181					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCGTGTTTTATGTATAATTT	0.383			T	ETV1	prostate								G	223781199	A	G	223781199	3	3	250	1	0	0	0	0	1	0	0	0	178	449	16	3	547	3	ACSL3	2	223781199	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	3672950	223781199	19418174	11	17457											
UGT1A1	54579	broad.mit.edu	37	chr2	234681031	234681031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgccacacctgcgcccCgcagcccacgacctcacctg	6	3	10	22	5	1	0	1	0	0	0	1	1	1	0	7	1	2	1	7	1	0	0	rs28900406	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr2:234681031C>T	uc002vuw.3	+	4	1431	c.1431C>T	c.(1429-1431)ccC>ccT	p.P477P	UGT1A1_uc002vup.3_Silent_p.P473P|UGT1A1_uc002vur.3_Silent_p.P473P|UGT1A1_uc002vus.3_Silent_p.P473P|UGT1A1_uc002vut.3_Silent_p.P473P|UGT1A1_uc002vuu.3_Silent_p.P208P|UGT1A1_uc002vuv.4_Silent_p.P475P|UGT1A1_uc002vux.3_Silent_p.P477P|UGT1A1_uc002vuy.3_Silent_p.P477P|UGT1A1_uc002vva.3_Non-coding_Transcript|UGT1A1_uc002vvb.3_Silent_p.P476P	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.	476					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding	p.A477S(1)		breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	ACCTGCGCCCCGCAGCCCACG	0.602													T	234681031	C	T	234681031	2	4	250	1	0	0	0	0	0	0	0	1	17046	639	23	1		1	UGT1A1	2	234681031	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	10899832	234681031	8518342	12	17458											
CYP8B1	1582	broad.mit.edu	37	chr3	42916203	42916203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagatactcctgcccactgGacatcttcagggtatagtct	10	11	8	12	0	3	1	1	0	2	1	4	2	4	2	2	2	2	1	2	2	3	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:42916203G>A	uc003cmh.3	-	0	1431	c.1106C>T	c.(1105-1107)tCc>tTc	p.S369F	CCBP2_uc003cmg.3_Intron	NM_004391	NP_004382	Q9UNU6	CP8B1_HUMAN	Homo sapiens cytochrome P450, family 8, subfamily B, polypeptide 1 (CYP8B1), mRNA.	369					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		CTGCCCACTGGACATCTTCAG	0.592													A	42916203	G	A	42916203	3	1	250	1	0	0	0	0	1	0	0	0	4231	1174	41	2	403	2	CYP8B1	3	42916203	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		42916203	155106227	13	17459											
ACY1	95	broad.mit.edu	37	chr3	52020670	52020670	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttatagtgagcggagTccctggtgtaagtatgagct	8	14	13	6	1	1	2	0	2	1	0	2	3	2	3	1	2	2	3	1	2	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:52020670T>C	uc003dcp.3	+	7	900	c.576T>C	c.(574-576)agT>agC	p.S192S	ACY1_uc011bea.2_Silent_p.S282S|ACY1_uc011beb.2_Silent_p.S192S|ACY1_uc003dcq.3_Silent_p.S192S|ACY1_uc021wzb.1_Silent_p.S157S|ACY1_uc021wzc.1_Silent_p.S120S|ACY1_uc021wzd.1_Silent_p.S192S	NM_000666	NP_001185824	Q03154	ACY1_HUMAN	Homo sapiens aminoacylase 1 (ACY1), transcript variant 1, mRNA.	192					cellular amino acid metabolic process|proteolysis	cytosol	aminoacylase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	L-Aspartic Acid(DB00128)	GTGAGCGGAGTCCCTGGTGTA	0.567													C	52020670	T	C	52020670	2	2	250	1	0	0	0	0	0	0	0	1	226	1664	58	3		3	ACY1	3	52020670	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	9104467	52020670	146001760	14	17460											
PIK3CA	5290	broad.mit.edu	37	chr3	178916881	178916881	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgaaacaagacgacttTgtgaccttcggctttttcaa	11	14	8	8	2	1	4	1	3	0	1	2	5	1	4	1	1	1	1	1	1	3	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:178916881T>G	uc003fjk.3	+	1	425	c.268T>G	c.(268-270)Tgt>Ggt	p.C90G		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	90	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AAGACGACTTTGTGACCTTCG	0.373		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916881	T	G	178916881	3	3	250	1	0	0	0	0	1	0	0	0	11990	1812	63	5	270	5	PIK3CA	3	178916881	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	126896211	178916881	19105549	15	17461											
ABCC5	10057	broad.mit.edu	37	chr3	183679309	183679309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcttacctcaactggcGgtgtctctcccagcaacagg	9	9	9	14	1	3	1	1	0	2	1	5	1	4	1	2	3	4	1	2	3	3	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr3:183679309G>A	uc003fmg.3	-	15	2534	c.2369C>T	c.(2368-2370)cCg>cTg	p.P790L	ABCC5_uc011bqt.2_Missense_Mutation_p.P318L|ABCC5_uc010hxl.3_Missense_Mutation_p.P790L	NM_005688	NP_005679	O15440	MRP5_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 5 (ABCC5), transcript variant 1, mRNA.	790						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity	p.P790P(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCAACTGGCGGTGTCTCTCC	0.478													A	183679309	G	A	183679309	3	1	250	1	0	0	0	0	1	0	0	0	56	1116	39	1	2004	1	ABCC5	3	183679309	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	4762428	183679309	14343121	16	17462											
RAB28	9364	broad.mit.edu	37	chr4	13481054	13481054	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactttttagtctcttacCtggcaatgttatccttctca	9	17	5	10	0	2	1	1	0	2	1	5	1	3	1	2	1	1	2	2	1	5	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:13481054C>A	uc003gmu.2	-	2	387	c.172_splice	c.e2+1	p.G58_splice	RAB28_uc003gmv.2_Splice_Site|RAB28_uc003gmt.2_Splice_Site_p.G58_splice|RAB28_uc011bwz.1_Splice_Site_p.G58_splice	NM_001017979	NP_001017979	P51157	RAB28_HUMAN	Homo sapiens RAB28, member RAS oncogene family (RAB28), transcript variant 1, mRNA.	58					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						AGTCTCTTACCTGGCAATGTT	0.328													A	13481054	C	A	13481054	4	1	250	1	0	0	0	0	0	1	0	0	13004	695	24	4	657	4	RAB28	4	13481054	Nonsense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		13481054	177673222	17	17463											
GABRA4	2557	broad.mit.edu	37	chr4	46966998	46966998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaatacctgcagaggggCttcaggatgcttctctctct	8	12	10	11	0	4	1	2	0	2	1	6	2	4	2	1	3	3	3	1	3	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr4:46966998C>A	uc003gxg.3	-	7	2106	c.1123G>T	c.(1123-1125)Gcc>Tcc	p.A375S	GABRA4_uc021xnz.1_Missense_Mutation_p.A356S|GABRA4_uc021xoa.1_Missense_Mutation_p.A305S	NM_000809	NP_000800	P48169	GBRA4_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 4 (GABRA4), transcript variant 1, mRNA.	375					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGCAGAGGGGCTTCAGGATGC	0.408													A	46966998	C	A	46966998	3	1	250	1	0	0	0	0	1	0	0	0	6215	797	28	4	549	4	GABRA4	4	46966998	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	33485944	46966998	144187278	18	17464											
CDH12	1010	broad.mit.edu	37	chr5	21817224	21817224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataggggaagactcaggaaCtttcaagtggaagatgcctg	14	8	13	6	0	2	2	2	0	0	2	2	5	2	5	1	4	2	0	1	4	6	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:21817224C>A	uc010iuc.2	-	5	1290	c.832G>T	c.(832-834)Gtt>Ttt	p.V278F	CDH12_uc011cno.1_Missense_Mutation_p.V238F|CDH12_uc003jgk.2_Missense_Mutation_p.V278F	NM_004061	NP_004052	P55289	CAD12_HUMAN	Homo sapiens cadherin 12, type 2 (N-cadherin 2) (CDH12), mRNA.	278	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GACTCAGGAACTTTCAAGTGG	0.363										HNSCC(59;0.17)			A	21817224	C	A	21817224	3	1	250	1	0	0	0	0	1	0	0	0	3128	565	20	4	1580	4	CDH12	5	21817224	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		21817224	159098036	19	17465											
HEATR7B2	133558	broad.mit.edu	37	chr5	41049447	41049447	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttcttctcctctgccAtaatcagaattctgatgata	9	15	6	11	0	5	3	1	2	4	1	6	3	5	3	2	0	2	2	2	0	3	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:41049447A>T	uc003jmj.4	-	13	1926	c.1436T>A	c.(1435-1437)aTg>aAg	p.M479K	HEATR7B2_uc003jmi.4_Missense_Mutation_p.M34K	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	479							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						CTCCTCTGCCATAATCAGAAT	0.463													T	41049447	A	T	41049447	3	4	250	1	0	0	0	0	1	0	0	0	7090	217	8	5	3437	5	HEATR7B2	5	41049447	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	19232223	41049447	139865813	20	17466											
MAP1B	4131	broad.mit.edu	37	chr5	71494424	71494424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcttctcctctccaagaaGatactctatccgatgttgct	8	14	6	13	2	3	2	0	0	3	2	7	3	4	2	3	0	2	3	3	0	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:71494424G>T	uc003kbw.4	+	4	5483	c.5242G>T	c.(5242-5244)Gat>Tat	p.D1748Y	MAP1B_uc010iyw.1_Missense_Mutation_p.D1765Y|MAP1B_uc010iyx.1_Missense_Mutation_p.D1622Y|MAP1B_uc010iyy.1_Missense_Mutation_p.D1622Y	NM_005909	NP_005900	P46821	MAP1B_HUMAN	Homo sapiens microtubule-associated protein 1B (MAP1B), mRNA.	1748						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCAAGAAGATACTCTATC	0.478													T	71494424	G	T	71494424	3	4	250	1	0	0	0	0	1	0	0	0	9303	942	33	4	5260	4	MAP1B	5	71494424	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	30444977	71494424	109420836	21	17467											
LHFPL2	10184	broad.mit.edu	37	chr5	77784735	77784735	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaactaaaggaggcagatCagatttttcccctcttcaat	13	11	6	11	0	3	2	2	0	1	2	4	3	4	3	3	2	1	1	3	2	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:77784735C>G	uc003kfo.3	-	4	1348	c.672G>C	c.(670-672)ctG>ctC	p.L224L		NM_005779	NP_005770	Q6ZUX7	LHPL2_HUMAN	Homo sapiens lipoma HMGIC fusion partner-like 2 (LHFPL2), mRNA.	224						integral to membrane				endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	6		all_lung(232;0.000409)|Lung NSC(167;0.00108)|Ovarian(174;0.0107)|Prostate(461;0.218)		OV - Ovarian serous cystadenocarcinoma(54;6.48e-46)|Epithelial(54;8.43e-42)|all cancers(79;1.42e-36)		GGAGGCAGATCAGATTTTTCC	0.418													G	77784735	C	G	77784735	2	3	250	1	0	0	0	0	0	0	0	1	8825	813	29	4		4	LHFPL2	5	77784735	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	6290311	77784735	103130525	22	17468											
PKD2L2	27039	broad.mit.edu	37	chr5	137257377	137257377	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattttgctggtattcagCaagccaatcctatcttggga	10	15	8	8	0	2	0	1	0	1	0	3	1	3	1	2	2	3	3	2	2	5	7			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:137257377C>G	uc003lby.3	+	8	1437	c.1381C>G	c.(1381-1383)Caa>Gaa	p.Q461E	PKD2L2_uc003lbw.1_Missense_Mutation_p.Q461E|PKD2L2_uc003lbx.3_Intron|PKD2L2_uc011cyi.1_Missense_Mutation_p.Q69E	NM_014386	NP_055201	Q9NZM6	PK2L2_HUMAN	Homo sapiens polycystic kidney disease 2-like 2 (PKD2L2), mRNA.	461						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTATTCAGCAAGCCAATCC	0.308													G	137257377	C	G	137257377	3	3	250	1	0	0	0	0	1	0	0	0	12045	711	25	4	1415	4	PKD2L2	5	137257377	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	59472642	137257377	43657883	23	17469											
ODZ2	57451	broad.mit.edu	37	chr5	167551889	167551889	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgctccagccacggAgtctgtgtgaatggagaatg	9	8	12	12	1	1	2	0	1	1	1	2	4	2	3	4	2	2	1	4	2	2	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr5:167551889A>G	uc010jjd.3	+	10	2043	c.2043A>G	c.(2041-2043)ggA>ggG	p.G681G	ODZ2_uc003lzr.4_Silent_p.G449G|ODZ2_uc003lzt.4_Silent_p.G45G|ODZ2_uc010jje.3_5'UTR	NM_001122679	NP_001116151			Homo sapiens odz, odd Oz/ten-m homolog 2 (Drosophila) (ODZ2), mRNA.											NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|lung(45)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(2)	122	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)		CCAGCCACGGAGTCTGTGTGA	0.512													G	167551889	A	G	167551889	2	3	250	1	0	0	0	0	0	0	0	1	10911	291	11	3		3	ODZ2	5	167551889	Silent	SNP	A	TCGA-41-5651-01A-01D-1696-08	30294512	167551889	13363371	24	17470											
TRIM10	10107	broad.mit.edu	37	chr6	30126364	30126364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaacttcctcaggtgtgCgaactcagaaatcacctgtt	12	11	8	10	1	3	2	3	0	0	2	4	3	4	2	2	1	3	1	2	1	4	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:30126364C>T	uc003npo.3	-	2	644	c.568G>A	c.(568-570)Gca>Aca	p.A190T	TRIM10_uc003npn.2_Missense_Mutation_p.A190T	NM_006778	NP_006769	Q9UDY6	TRI10_HUMAN	Homo sapiens tripartite motif containing 10 (TRIM10), transcript variant 1, mRNA.	190						cytoplasm	zinc ion binding	p.A190T(1)		ovary(1)	1						CTCAGGTGTGCGAACTCAGAA	0.512													T	30126364	C	T	30126364	3	4	250	1	0	0	0	0	1	0	0	0	16587	768	27	1	985	1	TRIM10	6	30126364	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		30126364	140988703	25	17471											
TAP2	6891	broad.mit.edu	37	chr6	32782142	32782142	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctggagtgatcgacaaGgcaggtgtagacatgtccaa	12	7	14	8	1	0	2	0	1	0	1	2	4	1	3	1	4	0	3	1	4	3	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:32782142G>C	uc011dqf.1	-	13	2541	c.2419C>G	c.(2419-2421)Ctt>Gtt	p.L807V	TAP2_uc003oca.3_Missense_Mutation_p.L200V|TAP2_uc011dqg.1_Missense_Mutation_p.L200V	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TGATCGACAAGGCAGGTGTAG	0.502													C	32782142	G	C	32782142	3	2	250	1	0	0	0	0	1	0	0	0	15648	1000	35	4		4	TAP2	6	32782142	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	2655778	32782142	138332925	26	17472											
DNAH8	1769	broad.mit.edu	37	chr6	38840400	38840400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttatcacgattctaatgaAggcgcaaacagaatgcggaa	15	8	10	8	4	2	2	1	1	1	1	2	4	2	3	0	2	2	2	0	2	6	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:38840400A>G	uc021yzh.1	+	49	7188	c.7079A>G	c.(7078-7080)aAg>aGg	p.K2360R	DNAH8_uc003ooe.2_Missense_Mutation_p.K2143R	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCTAATGAAGGCGCAAACA	0.453													G	38840400	A	G	38840400	3	3	250	1	0	0	0	0	1	0	0	0	4646	72	3	3	6610	3	DNAH8	6	38840400	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	6058258	38840400	132274667	27	17473											
KCNK5	8645	broad.mit.edu	37	chr6	39159464	39159464	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaagggacagccaggccagCcccaagtagatccagagctc	14	3	11	13	0	0	2	0	0	0	2	2	3	1	3	5	2	3	2	5	2	4	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:39159464C>A	uc003oon.3	-	4	1066	c.702G>T	c.(700-702)ggG>ggT	p.G234G		NM_003740	NP_003731	O95279	KCNK5_HUMAN	Homo sapiens potassium channel, subfamily K, member 5 (KCNK5), mRNA.	234					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						GCCAGGCCAGCCCCAAGTAGA	0.577													A	39159464	C	A	39159464	2	1	250	1	0	0	0	0	0	0	0	1	8127	726	26	4		4	KCNK5	6	39159464	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	319064	39159464	131955603	28	17474											
LRFN2	57497	broad.mit.edu	37	chr6	40360425	40360425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccagcagcgtggccaCgatgatgcccccgatgacca	11	4	12	14	3	0	3	0	2	0	1	0	6	0	3	5	1	3	1	5	1	1	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:40360425C>T	uc003oph.1	-	2	2092	c.1627G>A	c.(1627-1629)Gtg>Atg	p.V543M		NM_020737	NP_065788	Q9ULH4	LRFN2_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 2 (LRFN2), mRNA.	543						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCGTGGCCACGATGATGCCC	0.607													T	40360425	C	T	40360425	3	4	250	1	0	0	0	0	1	0	0	0	9008	536	19	1	746	1	LRFN2	6	40360425	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	1200961	40360425	130754642	29	17475											
TREML1	340205	broad.mit.edu	37	chr6	41121571	41121571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccaccatgcagccatactCgccagcatcctcttcctgca	9	9	5	18	1	1	0	0	0	1	0	5	0	4	0	6	0	5	3	6	0	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:41121571C>T	uc011duc.2	-	1	345	c.301G>A	c.(301-303)Gag>Aag	p.E101K	TREML1_uc003opx.3_Missense_Mutation_p.E101K|TREML1_uc011dud.2_Intron	NM_178174	NP_835468	Q86YW5	TRML1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 1 (TREML1), mRNA.	101	Ig-like V-type.				calcium-mediated signaling|innate immune response|platelet activation	cell surface|integral to membrane|plasma membrane|platelet alpha granule	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAGCCATACTCGCCAGCATCC	0.602													T	41121571	C	T	41121571	3	4	250	1	0	0	0	0	1	0	0	0	16573	893	31	1	652	1	TREML1	6	41121571	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	761146	41121571	129993496	30	17476											
TDRD6	221400	broad.mit.edu	37	chr6	46658201	46658201	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacagtagaagtcagagtgtCttatgttgaaaaccctggct	12	12	10	7	0	2	3	1	1	1	2	2	3	2	3	1	1	2	3	1	1	6	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:46658201C>G	uc003oyj.3	+	0	2590	c.2336C>G	c.(2335-2337)tCt>tGt	p.S779C	TDRD6_uc010jze.3_Missense_Mutation_p.S779C	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Homo sapiens tudor domain containing 6 (TDRD6), transcript variant 1, mRNA.	779					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTCAGAGTGTCTTATGTTGAA	0.388													G	46658201	C	G	46658201	3	3	250	1	0	0	0	0	1	0	0	0	15834	913	32	4	2338	4	TDRD6	6	46658201	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	5536630	46658201	124456866	31	17477											
KIF25	3834	broad.mit.edu	37	chr6	168443352	168443352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaccgtggccatgcccCgtaccggaacagcaggctca	9	4	13	15	3	1	0	1	0	0	0	1	2	1	2	5	4	5	4	5	4	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr6:168443352C>T	uc003qwk.1	+	7	1203	c.941C>T	c.(940-942)cCg>cTg	p.P314L	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	314					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity	p.P314P(1)		NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGCCATGCCCCGTACCGGAAC	0.652													T	168443352	C	T	168443352	3	4	250	1	0	0	0	0	1	0	0	0	8351	652	23	1	967	1	KIF25	6	168443352	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	121785151	168443352	2671715	32	17478											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcctggtgccagcGttgtccccttgtggcctggc	2	11	15	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577													A	6628405	G	A	6628405	3	1	250	1	0	0	0	0	1	0	0	0	17718	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		6628405	152510258	33	17479											
GHRHR	2692	broad.mit.edu	37	chr7	31014610	31014610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggacctggacgacacctcCccctactggtggatcatcaa	9	8	10	14	1	2	0	2	0	0	0	3	4	3	3	4	4	1	0	4	4	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:31014610C>T	uc003tbx.3	+	8	885	c.837C>T	c.(835-837)tcC>tcT	p.S279S	GHRHR_uc003tby.3_Silent_p.S215S|GHRHR_uc003tbz.3_Missense_Mutation_p.P46S	NM_000823	NP_000814	Q02643	GHRHR_HUMAN	Homo sapiens growth hormone releasing hormone receptor (GHRHR), mRNA.	279					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	ACGACACCTCCCCCTACTGGT	0.587											OREG0017943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	31014610	C	T	31014610	2	4	250	1	0	0	0	0	0	0	0	1	6429	610	22	2		2	GHRHR	7	31014610	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	24386205	31014610	128124053	34	17480											
SAMD9L	219285	broad.mit.edu	37	chr7	92765183	92765183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcactgagcagaatttgCccgtattgctcattaatctt	9	16	6	10	1	4	2	2	1	2	1	4	2	4	2	1	0	3	3	1	0	3	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:92765183C>T	uc003umh.1	-	4	1318	c.102G>A	c.(100-102)ggG>ggA	p.G34G	SAMD9L_uc003umj.1_Silent_p.G34G|SAMD9L_uc003umi.1_Silent_p.G34G|SAMD9L_uc010lfb.1_Silent_p.G34G|SAMD9L_uc003umk.1_Silent_p.G34G|SAMD9L_uc010lfc.1_Silent_p.G34G|SAMD9L_uc010lfd.1_Silent_p.G34G|SAMD9L_uc022ahh.1_Silent_p.G34G	NM_152703	NP_689916	Q8IVG5	SAM9L_HUMAN	Homo sapiens sterile alpha motif domain containing 9-like (SAMD9L), mRNA.	34	SAM.									central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GCAGAATTTGCCCGTATTGCT	0.403													T	92765183	C	T	92765183	2	4	250	1	0	0	0	0	0	0	0	1	13918	726	26	2		2	SAMD9L	7	92765183	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	61750573	92765183	66373480	35	17481											
CNTNAP2	26047	broad.mit.edu	37	chr7	147844679	147844679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacgatgaccagtggcaccGggtcactgcagagaggaatg	12	5	14	10	2	1	2	1	1	0	1	1	5	1	3	2	3	2	2	2	3	2	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:147844679G>A	uc003weu.2	+	16	3167	c.2651G>A	c.(2650-2652)cGg>cAg	p.R884Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	884	Laminin G-like 3.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R884W(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CAGTGGCACCGGGTCACTGCA	0.582										HNSCC(39;0.1)			A	147844679	G	A	147844679	3	1	250	1	0	0	0	0	1	0	0	0	3678	1116	39	1	2717	1	CNTNAP2	7	147844679	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	55079496	147844679	11293984	36	17482											
UBE3C	9690	broad.mit.edu	37	chr7	156963055	156963055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgtcacagtccgggggcGcttttcccattgctaatggc	5	12	11	13	2	1	0	1	0	0	0	3	0	3	0	3	3	1	2	3	3	1	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr7:156963055G>A	uc010lqs.3	+	3	565	c.253G>A	c.(253-255)Gct>Act	p.A85T	UBE3C_uc003wnf.2_Missense_Mutation_p.A42T|UBE3C_uc003wng.2_Missense_Mutation_p.A85T	NM_014671	NP_055486	Q15386	UBE3C_HUMAN	Homo sapiens ubiquitin protein ligase E3C (UBE3C), mRNA.	85					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity	p.G84G(1)		central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GTCCGGGGGCGCTTTTCCCAT	0.398													A	156963055	G	A	156963055	3	1	250	1	0	0	0	0	1	0	0	0	16983	1087	38	1	267	1	UBE3C	7	156963055	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	9118376	156963055	2175608	37	17483											
ADAM28	10863	broad.mit.edu	37	chr8	24199261	24199261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatggaactaagtgtggCgataacaaggtaagttgaaa	16	8	12	5	1	0	1	0	1	0	0	0	3	0	2	1	3	2	2	1	3	7	4	rs149263503	byFrequency	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:24199261C>T	uc003xdy.3	+	15	1904	c.1821C>T	c.(1819-1821)ggC>ggT	p.G607G	ADAM28_uc011laa.2_Non-coding_Transcript|ADAM28_uc010lua.3_Silent_p.G294G	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN	Homo sapiens ADAM metallopeptidase domain 28 (ADAM28), transcript variant 1, mRNA.	607	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.G607G(3)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CTAAGTGTGGCGATAACAAGG	0.408													T	24199261	C	T	24199261	2	4	250	1	0	0	0	0	0	0	0	1	246	755	27	1		1	ADAM28	8	24199261	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08		24199261	122164761	38	17484											
PXDNL	137902	broad.mit.edu	37	chr8	52387699	52387699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgttggaatccagaCgcctaggcatgcaggcaaga	11	5	14	11	2	0	2	0	0	0	2	1	3	1	3	3	4	1	4	3	4	3	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:52387699C>T	uc003xqu.4	-	6	628	c.527G>A	c.(526-528)cGt>cAt	p.R176H		NM_144651	NP_653252	A1KZ92	PXDNL_HUMAN	Homo sapiens peroxidasin homolog (Drosophila)-like (PXDNL), mRNA.	176					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGAATCCAGACGCCTAGGCAT	0.468													T	52387699	C	T	52387699	3	4	250	1	0	0	0	0	1	0	0	0	12936	536	19	1	3932	1	PXDNL	8	52387699	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	28188438	52387699	93976323	39	17485											
PKHD1L1	93035	broad.mit.edu	37	chr8	110454293	110454293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtgtctgtgggggacaCagtggcatggcattggcaaa	11	9	15	6	0	1	0	0	0	1	0	1	1	1	1	0	5	0	3	0	5	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:110454293C>A	uc003yne.3	+	34	4366	c.4262C>A	c.(4261-4263)aCa>aAa	p.T1421K		NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1 (PKHD1L1), mRNA.	1421	IPT/TIG 7.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GTGGGGGACACAGTGGCATGG	0.418										HNSCC(38;0.096)			A	110454293	C	A	110454293	3	1	250	1	0	0	0	0	1	0	0	0	12049	478	17	4	4400	4	PKHD1L1	8	110454293	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	58066594	110454293	35909729	40	17486											
ADCY8	114	broad.mit.edu	37	chr8	132002709	132002709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctccaggaaagcttggCgctgggcccggtctgacagg	7	7	16	11	2	2	1	0	1	2	0	3	3	2	2	2	5	1	2	2	5	1	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr8:132002709C>T	uc003ytd.4	-	1	1296	c.1040G>A	c.(1039-1041)cGc>cAc	p.R347H	ADCY8_uc010mds.3_Missense_Mutation_p.R347H	NM_001115	NP_001106	P40145	ADCY8_HUMAN	Homo sapiens adenylate cyclase 8 (brain) (ADCY8), mRNA.	347					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GAAAGCTTGGCGCTGGGCCCG	0.522										HNSCC(32;0.087)			T	132002709	C	T	132002709	3	4	250	1	0	0	0	0	1	0	0	0	300	768	27	1	2783	1	ADCY8	8	132002709	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	21548416	132002709	14361313	41	17487											
ACO1	48	broad.mit.edu	37	chr9	32430435	32430435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggagaccttgtagctgttgGagtactatctggaaacagga	11	10	14	6	0	1	1	0	0	1	1	1	5	1	4	1	4	3	4	1	4	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:32430435G>T	uc003zqw.4	+	13	1744	c.1589G>T	c.(1588-1590)gGa>gTa	p.G530V	ACO1_uc010mjh.1_Missense_Mutation_p.G364V|ACO1_uc003zqx.4_Missense_Mutation_p.G530V|ACO1_uc003zqy.4_Non-coding_Transcript	NM_002197	NP_002188	P21399	ACOC_HUMAN	Homo sapiens aconitase 1, soluble (ACO1), mRNA.	530					citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GTAGCTGTTGGAGTACTATCT	0.453													T	32430435	G	T	32430435	3	4	250	1	0	0	0	0	1	0	0	0	146	1174	41	4	1639	4	ACO1	9	32430435	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		32430435	108782996	42	17488											
DAPK1	1612	broad.mit.edu	37	chr9	90220082	90220082	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacggacgtcatcctgatCttggaactgtgagtgccgcc	9	9	12	11	3	2	3	1	2	1	1	3	5	3	5	3	2	2	0	3	2	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:90220082C>T	uc004apc.3	+	2	414	c.276C>T	c.(274-276)atC>atT	p.I92I	DAPK1_uc004ape.3_Silent_p.I92I|DAPK1_uc004apd.3_Silent_p.I92I|DAPK1_uc011ltg.2_Silent_p.I92I|DAPK1_uc011lth.2_5'UTR	NM_004938	NP_004929	P53355	DAPK1_HUMAN	Homo sapiens death-associated protein kinase 1 (DAPK1), mRNA.	92	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TCATCCTGATCTTGGAACTGT	0.612									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90220082	C	T	90220082	2	4	250	1	0	0	0	0	0	0	0	1	4269	903	32	2		2	DAPK1	9	90220082	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	57789647	90220082	50993349	43	17489											
SNX30	401548	broad.mit.edu	37	chr9	115580093	115580093	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccagcccactcatctcattCccgtaggtagtaagtcacta	10	10	6	15	1	3	0	3	0	1	0	5	0	4	0	3	1	1	3	3	1	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:115580093C>G	uc004bgj.4	+	2	605	c.457C>G	c.(457-459)Ccc>Gcc	p.P153A		NM_001012994	NP_001013012	Q5VWJ9	SNX30_HUMAN	Homo sapiens sorting nexin family member 30 (SNX30), mRNA.	153	PX.				cell communication|protein transport	cytoplasm	phosphatidylinositol binding			large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TCATCTCATTCCCGTAGGTAG	0.458													G	115580093	C	G	115580093	3	3	250	1	0	0	0	0	1	0	0	0	14994	855	30	4	467	4	SNX30	9	115580093	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	25360011	115580093	25633338	44	17490											
OR1J1	347168	broad.mit.edu	37	chr9	125239495	125239495	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatccacaagtggacaaGgctttgcatatgcccttggt	9	11	12	9	0	0	0	0	0	0	0	1	2	1	2	2	4	2	2	2	4	3	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:125239495G>A	uc011lyu.2	-	0	711	c.711C>T	c.(709-711)gcC>gcT	p.A237A	OR1J2_uc004bmj.2_Intron	NM_001004451	NP_001004451	Q8NGS3	OR1J1_HUMAN	Homo sapiens olfactory receptor, family 1, subfamily J, member 1 (OR1J1), mRNA.	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						AAGTGGACAAGGCTTTGCATA	0.468													A	125239495	G	A	125239495	2	1	250	1	0	0	0	0	0	0	0	1	11035	987	35	2		2	OR1J1	9	125239495	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	9659402	125239495	15973936	45	17491											
SDCCAG3	10807	broad.mit.edu	37	chr9	139299619	139299619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcgctttcctccttgatcAtttttgcttctaacttccgc	5	18	5	13	2	2	1	1	1	1	0	6	1	5	1	3	0	2	2	3	0	1	7			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr9:139299619A>G	uc004chi.3	-	6	1134	c.929T>C	c.(928-930)aTg>aCg	p.M310T	SDCCAG3_uc004chj.3_Missense_Mutation_p.M287T|SDCCAG3_uc004chk.3_Missense_Mutation_p.M237T	NM_001039707	NP_001034796	Q96C92	SDCG3_HUMAN	Homo sapiens serologically defined colon cancer antigen 3 (SDCCAG3), transcript variant 1, mRNA.	310						cytoplasm				NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	16		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.18e-06)|Epithelial(140;9.31e-06)		CTCCTTGATCATTTTTGCTTC	0.463													G	139299619	A	G	139299619	3	3	250	1	0	0	0	0	1	0	0	0	14051	217	8	3	394	3	SDCCAG3	9	139299619	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	14060124	139299619	1913812	46	17492											
ARMC3	219681	broad.mit.edu	37	chr10	23321938	23321938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaatcttctaccatcgaGctttgcttttcaaggtgtgt	9	15	9	8	1	3	0	1	0	2	0	4	2	3	1	1	2	3	2	1	2	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr10:23321938G>T	uc001irm.4	+	17	2478	c.2395G>T	c.(2395-2397)Gct>Tct	p.A799S	ARMC3_uc010qcv.2_Missense_Mutation_p.A792S|ARMC3_uc010qcw.2_Missense_Mutation_p.A536S	NM_173081	NP_775104	Q5W041	ARMC3_HUMAN	Homo sapiens armadillo repeat containing 3 (ARMC3), mRNA.	799							binding	p.R798*(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CTACCATCGAGCTTTGCTTTT	0.353													T	23321938	G	T	23321938	3	4	250	1	0	0	0	0	1	0	0	0	957	971	34	4	2461	4	ARMC3	10	23321938	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		23321938	112212809	47	17493											
CHRNA10	57053	broad.mit.edu	37	chr11	3690464	3690464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggccgccacacaagactGctggggatgcggatggcatc	8	7	14	12	2	1	1	0	0	1	1	2	3	1	3	2	5	2	2	2	5	1	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:3690464G>A	uc001lyf.3	-	2	396	c.324C>T	c.(322-324)agC>agT	p.S108S	CHRNA10_uc010qxt.2_5'UTR|CHRNA10_uc010qxu.2_5'UTR	NM_020402	NP_065135	Q9GZZ6	ACH10_HUMAN	Homo sapiens cholinergic receptor, nicotinic, alpha 10 (CHRNA10), mRNA.	108					elevation of cytosolic calcium ion concentration|regulation of cell proliferation|synaptic transmission, cholinergic	cell junction|postsynaptic membrane	calcium channel activity|receptor activity|receptor binding			breast(1)|endometrium(2)|lung(3)|ovary(1)	7		Medulloblastoma(188;0.0075)|Breast(177;0.0164)|all_neural(188;0.0577)		BRCA - Breast invasive adenocarcinoma(625;0.0344)|LUSC - Lung squamous cell carcinoma(625;0.192)	Chloroprocaine(DB01161)|Methadone(DB00333)|Nicotine(DB00184)|Pentolinium(DB01090)|Procaine(DB00721)|Trimethaphan(DB01116)	ACACAAGACTGCTGGGGATGC	0.567													A	3690464	G	A	3690464	2	1	250	1	0	0	0	0	0	0	0	1	3412	1310	46	2		2	CHRNA10	11	3690464	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		3690464	131316052	48	17494											
MICAL2	9645	broad.mit.edu	37	chr11	12241780	12241780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagatgctgctgtgtgcGgagaacgtgaaccaagacaa	14	6	13	8	2	0	4	0	1	0	3	0	6	0	4	1	1	5	2	1	1	4	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:12241780G>A	uc001mjz.3	+	8	1269	c.981G>A	c.(979-981)gcG>gcA	p.A327A	MICAL2_uc010rch.1_Silent_p.A327A|MICAL2_uc001mka.3_Silent_p.A327A|MICAL2_uc010rci.2_Silent_p.A327A|MICAL2_uc001mkb.3_Silent_p.A327A|MICAL2_uc001mkc.3_Silent_p.A327A|MICAL2_uc001mkd.3_Silent_p.A156A|MICAL2_uc010rcj.2_5'Flank	NM_014632	NP_055447	O94851	MICA2_HUMAN	Homo sapiens microtubule associated monoxygenase, calponin and LIM domain containing 2 (MICAL2), mRNA.	327						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		TGCTGTGTGCGGAGAACGTGA	0.527													A	12241780	G	A	12241780	2	1	250	1	0	0	0	0	0	0	0	1	9645	1103	39	1		1	MICAL2	11	12241780	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	8551316	12241780	122764736	49	17495											
PYGM	5837	broad.mit.edu	37	chr11	64514249	64514249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaggtggctatgttcCggatcaccatccgcgtccac	7	9	11	14	3	1	1	1	0	0	1	4	2	4	2	5	3	1	2	5	3	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:64514249C>T	uc001oax.4	-	19	3228	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	RASGRP2_uc009ypu.3_5'Flank|RASGRP2_uc009ypv.3_5'Flank|RASGRP2_uc009ypw.3_5'Flank|RASGRP2_uc001oaw.1_5'Flank|PYGM_uc001oay.4_Missense_Mutation_p.R716Q	NM_005609	NP_005600	P11217	PYGM_HUMAN	Homo sapiens phosphorylase, glycogen, muscle (PYGM), transcript variant 1, mRNA.	804					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	GGCTATGTTCCGGATCACCAT	0.607													T	64514249	C	T	64514249	3	4	250	1	0	0	0	0	1	0	0	0	12950	652	23	1	121	1	PYGM	11	64514249	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	52272469	64514249	70492267	50	17496											
PDGFD	80310	broad.mit.edu	37	chr11	103780460	103780460	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcagatacaatcacatcGttcatggtgatccaactgga	12	10	9	10	1	2	2	2	1	0	1	4	3	3	3	1	2	3	3	1	2	3	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:103780460G>A	uc001phq.3	-	6	1447	c.1075C>T	c.(1075-1077)Cga>Tga	p.R359*	PDGFD_uc001php.3_Nonsense_Mutation_p.R353*	NM_025208	NP_079484	Q9GZP0	PDGFD_HUMAN	Homo sapiens platelet derived growth factor D (PDGFD), transcript variant 1, mRNA.	359					positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		CAATCACATCGTTCATGGTGA	0.448													A	103780460	G	A	103780460	4	1	250	1	0	0	0	0	0	1	0	0	11736	1153	40	1	41	1	PDGFD	11	103780460	Nonsense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39266211	103780460	31226056	51	17497											
NLRX1	79671	broad.mit.edu	37	chr11	119054075	119054075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacccttaatccttggcGcaaggcccagctgctgcgag	7	8	11	15	2	0	0	0	0	0	0	1	1	1	0	4	2	4	3	4	2	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:119054075G>A	uc001pvu.3	+	9	3070	c.2855G>A	c.(2854-2856)cGc>cAc	p.R952H	NLRX1_uc001pvv.3_Intron|NLRX1_uc001pvw.3_Missense_Mutation_p.R952H|NLRX1_uc001pvx.3_Missense_Mutation_p.R952H|PDZD3_uc001pvz.3_5'Flank|PDZD3_uc010rzd.2_5'Flank|PDZD3_uc001pvy.3_5'Flank|PDZD3_uc001pwa.3_5'Flank|PDZD3_uc001pwb.3_5'Flank	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	952	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.R952H(2)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AATCCTTGGCGCAAGGCCCAG	0.637													A	119054075	G	A	119054075	3	1	250	1	0	0	0	0	1	0	0	0	10561	1087	38	1	2889	1	NLRX1	11	119054075	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	15273615	119054075	15952441	52	17498											
ARHGAP32	9743	broad.mit.edu	37	chr11	128910863	128910863	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcactgactggggaactttTtggttaattaactcaacaca	12	13	8	8	0	2	1	2	1	0	0	2	2	2	2	0	3	3	1	0	3	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr11:128910863T>A	uc009zcp.3	-	9	963	c.963A>T	c.(961-963)caA>caT	p.Q321H	ARHGAP32_uc009zcq.2_Missense_Mutation_p.Q281H|ARHGAP32_uc001qfb.3_Missense_Mutation_p.Q106H	NM_001142685	NP_055530	A7KAX9	RHG32_HUMAN	Homo sapiens Rho GTPase activating protein 32 (ARHGAP32), transcript variant 1, mRNA.	321	SH3.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGGGAACTTTTTGGTTAATTA	0.393													A	128910863	T	A	128910863	3	1	250	1	0	0	0	0	1	0	0	0	884	1838	64	5	5352	5	ARHGAP32	11	128910863	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	9856788	128910863	6095653	53	17499											
KLRG1	10219	broad.mit.edu	37	chr12	9142272	9142272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccatgttagagttgcctaCggcaacccaagcccagaatg	11	9	9	12	1	0	2	0	0	0	2	1	2	1	2	4	1	4	3	4	1	5	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:9142272C>T	uc001qvh.3	+	0	52	c.41C>T	c.(40-42)aCg>aTg	p.T14M	KLRG1_uc001qvg.3_Missense_Mutation_p.T14M	NM_005810	NP_005801	Q96E93	KLRG1_HUMAN	Homo sapiens killer cell lectin-like receptor subfamily G, member 1 (KLRG1), mRNA.	14					cell surface receptor linked signaling pathway|cellular defense response|inflammatory response|regulation of immune response	integral to membrane	receptor activity|sugar binding			breast(1)|central_nervous_system(1)|kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8						GAGTTGCCTACGGCAACCCAA	0.413													T	9142272	C	T	9142272	3	4	250	1	0	0	0	0	1	0	0	0	8479	536	19	1	43	1	KLRG1	12	9142272	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		9142272	124709623	54	17500											
KIF5A	3798	broad.mit.edu	37	chr12	57963411	57963411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaaggagaagacaaaGgcccagaaggagacgattgc	18	2	15	6	1	0	5	0	0	0	5	0	9	0	5	1	4	1	0	1	4	5	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:57963411G>A	uc001sor.1	+	10	1270	c.1062G>A	c.(1060-1062)aaG>aaA	p.K354K	KIF5A_uc010srr.1_Silent_p.K265K	NM_004984	NP_004975	Q12840	KIF5A_HUMAN	Homo sapiens kinesin family member 5A (KIF5A), mRNA.	354					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						agaagacaaaggcccagaagg	0.532													A	57963411	G	A	57963411	2	1	250	1	0	0	0	0	0	0	0	1	8363	991	35	2		2	KIF5A	12	57963411	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	48821139	57963411	75888484	55	17501											
OS9	10956	broad.mit.edu	37	chr12	58109576	58109576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggtgcaggtatctctgggGactacatcgatcgcgtggac	8	9	15	9	3	1	0	0	0	1	0	4	3	1	2	0	5	2	2	0	5	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58109576G>A	uc001spj.3	+	5	820	c.613G>A	c.(613-615)Gac>Aac	p.D205N	OS9_uc010srx.2_Intron|OS9_uc001spk.3_Missense_Mutation_p.D205N|OS9_uc001spl.3_Missense_Mutation_p.D205N|OS9_uc001spm.3_Missense_Mutation_p.D205N|OS9_uc001spn.3_Missense_Mutation_p.D205N|OS9_uc010sry.2_Missense_Mutation_p.D172N|OS9_uc010srz.2_Missense_Mutation_p.D146N	NM_006812	NP_006803	Q13438	OS9_HUMAN	Homo sapiens osteosarcoma amplified 9, endoplasmic reticulum lectin (OS9), transcript variant 1, mRNA.	205					ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TATCTCTGGGGACTACATCGA	0.542													A	58109576	G	A	58109576	3	1	250	1	0	0	0	0	1	0	0	0	11348	1174	41	2	635	2	OS9	12	58109576	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	146165	58109576	75742319	56	17502											
AVIL	10677	broad.mit.edu	37	chr12	58204641	58204641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctctgggccattccattgGatgatgactttcccaaggtc	7	13	9	12	0	1	2	0	2	1	0	5	3	3	3	3	3	0	0	3	3	1	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:58204641G>A	uc001sqj.2	-	4	545	c.516C>T	c.(514-516)atC>atT	p.I172I	AVIL_uc009zqe.2_Silent_p.I165I|AVIL_uc001sqk.1_5'Flank|AVIL_uc001sql.4_Silent_p.I149I|JA611266_uc021qzr.1_5'Flank	NM_006576	NP_006567	O75366	AVIL_HUMAN	Homo sapiens advillin (AVIL), mRNA.	172	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CATTCCATTGGATGATGACTT	0.502													A	58204641	G	A	58204641	2	1	250	1	0	0	0	0	0	0	0	1	1232	1164	41	2		2	AVIL	12	58204641	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	95065	58204641	75647254	57	17503											
LRIG3	121227	broad.mit.edu	37	chr12	59268350	59268351	+	Frame_Shift_Ins	INS	-	-	G																															ctgctattgtcaatatggcaINSggtccctttgaaacaaaaat																										TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr12:59268350_59268351insG	uc001sqr.3	-	16	2946_2947	c.2700_2701insC	c.(2698-2703)acctgcfs	p.T900fs	LRIG3_uc009zqh.3_Frame_Shift_Ins_p.T840fs|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	900						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TCAATATGGCAGGTCCCTTTGA	0.401			T	ROS1	NSCLC								G	59268351	-	G	59268350	7	5	250	1	0	1	1	0	0	0	0	0	9016	188	7	0	670	0	LRIG3	12	59268350	Frame_Shift_Ins	INS	-	TCGA-41-5651-01A-01D-1696-08	1063709	59268350	74583545	58	17504											
ACIN1	22985	broad.mit.edu	37	chr14	23564497	23564497	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtttccgtctccacatcGttaccaatcaattctttcca	9	15	4	13	2	3	0	1	0	2	0	7	1	5	0	4	0	1	2	4	0	3	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23564497G>A	uc001wit.4	-	0					ACIN1_uc010akg.3_5'UTR|ACIN1_uc010tnj.2_5'UTR|C14orf119_uc001wiu.3_5'Flank|C14orf119_uc021rqv.1_5'Flank	NM_014977	NP_055792	Q9UKV3	ACINU_HUMAN	Homo sapiens apoptotic chromatin condensation inducer 1 (ACIN1), transcript variant 1, mRNA.						apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCTCCACATCGTTACCAATCA	0.542													A	23564497	G	A	23564497	1	1	250	1	0	0	0	0	0	0	0	0	142	1160	40	1		1	ACIN1	14	23564497	Translation_Start_Site	SNP	G	TCGA-41-5651-01A-01D-1696-08		23564497	83785043	59	17505											
MYH6	4624	broad.mit.edu	37	chr14	23857466	23857466	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgtagccggtgcttGgtcttctccagtgaggagca	6	13	12	10	1	4	1	1	1	3	0	5	2	4	2	2	3	3	3	2	3	1	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:23857466G>C	uc001wjv.3	-	29	4328	c.4257C>G	c.(4255-4257)acC>acG	p.T1419T		NM_002471	NP_002462	P13533	MYH6_HUMAN	Homo sapiens myosin, heavy chain 6, cardiac muscle, alpha (MYH6), mRNA.	1419					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGGTGCTTGGTCTTCTCCA	0.572													C	23857466	G	C	23857466	2	2	250	1	0	0	0	0	0	0	0	1	10114	1335	47	4		4	MYH6	14	23857466	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	292969	23857466	83492074	60	17506											
KCNH5	27133	broad.mit.edu	37	chr14	63468087	63468087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattggctgtttgaacaacGtaatatccttgaaagtacac	13	13	7	8	1	0	2	0	2	0	0	1	2	1	2	1	1	3	4	1	1	7	7			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:63468087G>A	uc001xfx.3	-	3	446	c.395C>T	c.(394-396)aCg>aTg	p.T132M	KCNH5_uc001xfy.3_Missense_Mutation_p.T132M|KCNH5_uc001xfz.1_Missense_Mutation_p.T74M|KCNH5_uc001xga.3_Missense_Mutation_p.T74M	NM_139318	NP_647479	Q8NCM2	KCNH5_HUMAN	Homo sapiens potassium voltage-gated channel, subfamily H (eag-related), member 5 (KCNH5), transcript variant 1, mRNA.	132	PAC.				regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		TTTGAACAACGTAATATCCTT	0.343													A	63468087	G	A	63468087	3	1	250	1	0	0	0	0	1	0	0	0	8093	1145	40	1	2637	1	KCNH5	14	63468087	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39610621	63468087	43881453	61	17507											
LTBP2	4053	broad.mit.edu	37	chr14	74971518	74971518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgtccaggctccttcCacaggaatgtagccttttcc	9	10	7	15	1	0	0	0	0	0	0	4	1	4	1	6	2	2	2	6	2	3	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:74971518C>T	uc001xqa.3	-	29	4803	c.4416G>A	c.(4414-4416)gtG>gtA	p.V1472V		NM_000428	NP_000419	Q14767	LTBP2_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 2 (LTBP2), mRNA.	1472					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		AGGCTCCTTCCACAGGAATGT	0.562													T	74971518	C	T	74971518	2	4	250	1	0	0	0	0	0	0	0	1	9144	581	21	2		2	LTBP2	14	74971518	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	11503431	74971518	32378022	62	17508											
STON2	85439	broad.mit.edu	37	chr14	81744722	81744722	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcaggaaagggttggtTgccctccaaggtgaagcctc	9	10	12	10	0	2	1	2	1	0	0	4	2	3	2	3	4	2	2	3	4	3	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:81744722T>G	uc010tvu.2	-	3	1131	c.933A>C	c.(931-933)gcA>gcC	p.A311A	STON2_uc001xvk.1_Silent_p.A311A|STON2_uc010tvt.2_Silent_p.A108A	NM_033104	NP_149095	Q8WXE9	STON2_HUMAN	Homo sapiens stonin 2 (STON2), transcript variant 1, mRNA.	311					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		AAGGGTTGGTTGCCCTCCAAG	0.498													G	81744722	T	G	81744722	2	3	250	1	0	0	0	0	0	0	0	1	15414	1799	63	5		5	STON2	14	81744722	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	6773204	81744722	25604818	63	17509											
SERPINA12	145264	broad.mit.edu	37	chr14	94953697	94953697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacggaaggtattttctcGctgtaaatcagcagcagata	13	10	10	8	2	2	1	1	0	1	1	3	2	2	2	0	2	3	6	0	2	5	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:94953697G>A	uc001ydj.3	-	5	1984	c.1188C>T	c.(1186-1188)agC>agT	p.S396S		NM_173850	NP_776249	Q8IW75	SPA12_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12 (SERPINA12), mRNA.	396					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GTATTTTCTCGCTGTAAATCA	0.527													A	94953697	G	A	94953697	2	1	250	1	0	0	0	0	0	0	0	1	14182	1078	38	1		1	SERPINA12	14	94953697	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	13208975	94953697	12395843	64	17510											
AHNAK2	113146	broad.mit.edu	37	chr14	105411658	105411658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggcacgtggccctccGggagcttcacgtccacctgg	4	7	13	17	4	1	0	1	0	0	0	4	1	3	1	5	4	1	2	5	4	0	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr14:105411658G>A	uc010axc.1	-	6	10250	c.10130C>T	c.(10129-10131)cCg>cTg	p.P3377L	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P3277L	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	3377						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTGGCCCTCCGGGAGCTTCAC	0.637													A	105411658	G	A	105411658	3	1	250	1	0	0	0	0	1	0	0	0	415	1116	39	1	7261	1	AHNAK2	14	105411658	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	10457961	105411658	1937882	65	17511											
SHC4	399694	broad.mit.edu	37	chr15	49217141	49217141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcacttcaacacagccCatgtactacaataagaagaa	17	7	6	11	0	1	2	1	0	0	2	1	2	1	2	1	0	6	3	1	0	7	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:49217141C>A	uc001zxb.1	-	1	1020	c.591G>T	c.(589-591)atG>atT	p.M197I		NM_203349	NP_976224	Q6S5L8	SHC4_HUMAN	Homo sapiens SHC (Src homology 2 domain containing) family, member 4 (SHC4), mRNA.	197	PID.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		CAACACAGCCCATGTACTACA	0.413													A	49217141	C	A	49217141	3	1	250	1	0	0	0	0	1	0	0	0	14367	594	21	4	1345	4	SHC4	15	49217141	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		49217141	53314251	66	17512											
MYO5C	55930	broad.mit.edu	37	chr15	52537563	52537563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgacctggatgagtctGtgtaaaaccaccttgcacac	13	9	8	11	0	1	2	0	2	1	0	1	3	1	3	3	1	3	2	3	1	3	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:52537563G>A	uc010bff.3	-	17	2328	c.2166C>T	c.(2164-2166)caC>caT	p.H722H	MYO5C_uc010uga.2_Non-coding_Transcript|MYO5C_uc010ugb.2_Non-coding_Transcript	NM_018728	NP_061198	Q9NQX4	MYO5C_HUMAN	Homo sapiens myosin VC (MYO5C), mRNA.	722	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		GGATGAGTCTGTGTAAAACCA	0.483													A	52537563	G	A	52537563	2	1	250	1	0	0	0	0	0	0	0	1	10156	1368	48	2		2	MYO5C	15	52537563	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	3320422	52537563	49993829	67	17513											
CD276	80381	broad.mit.edu	37	chr15	73994767	73994767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgctgagggccaggAccagggcagcgcctatgcca	8	6	14	13	1	0	1	0	1	0	0	0	2	0	2	4	3	4	3	4	3	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr15:73994767A>G	uc002avv.1	+	2	485	c.251A>G	c.(250-252)gAc>gGc	p.D84G	CD276_uc010bjd.1_5'UTR|CD276_uc002avu.1_Missense_Mutation_p.D84G|CD276_uc002avw.1_Missense_Mutation_p.D84G|CD276_uc010ulb.1_Missense_Mutation_p.D30G	NM_001024736	NP_001019907	Q5ZPR3	CD276_HUMAN	Homo sapiens CD276 molecule (CD276), transcript variant 1, mRNA.	84	Ig-like V-type 1.				cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						GAGGGCCAGGACCAGGGCAGC	0.647													G	73994767	A	G	73994767	3	3	250	1	0	0	0	0	1	0	0	0	3022	275	10	3	257	3	CD276	15	73994767	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	21457204	73994767	28536625	68	17514											
CIITA	4261	broad.mit.edu	37	chr16	11004047	11004047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcctgttctctccaggaCgagaagttcctcggaagaca	10	10	10	11	2	1	2	0	0	1	2	5	5	3	4	3	2	1	2	3	2	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:11004047C>T	uc002daj.4	+	12	2955	c.2822C>T	c.(2821-2823)aCg>aTg	p.T941M	CIITA_uc002dai.4_Missense_Mutation_p.T940M|CIITA_uc002dak.4_Missense_Mutation_p.T356M|CIITA_uc010bup.1_Nonsense_Mutation_p.R337*	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	940			Missing (in BLS2).		interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTCTCCAGGACGAGAAGTTCC	0.572			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								T	11004047	C	T	11004047	3	4	250	1	0	0	0	0	1	0	0	0	3458	536	19	1	2869	1	CIITA	16	11004047	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		11004047	79350706	69	17515											
IL4R	3566	broad.mit.edu	37	chr16	27373866	27373866	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagggatgacttccaggaggGaagggagggcattgtggccc	9	6	18	8	0	0	1	0	1	0	0	1	5	1	5	2	6	0	1	2	6	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:27373866G>C	uc002don.3	+	10	1435	c.1193G>C	c.(1192-1194)gGa>gCa	p.G398A	IL4R_uc002dop.4_Missense_Mutation_p.G383A|IL4R_uc010bxy.3_Missense_Mutation_p.G398A|IL4R_uc002doo.3_Missense_Mutation_p.G238A	NM_000418	NP_000409	P24394	IL4RA_HUMAN	Homo sapiens interleukin 4 receptor (IL4R), transcript variant 1, mRNA.	398					immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						TTCCAGGAGGGAAGGGAGGGC	0.597													C	27373866	G	C	27373866	3	2	250	1	0	0	0	0	1	0	0	0	7756	1174	41	4	1245	4	IL4R	16	27373866	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	16369819	27373866	62980887	70	17516											
ELMO3	79767	broad.mit.edu	37	chr16	67235531	67235531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcgcatgcggacgcccctgGacccctacagccaggtgtgt	6	6	13	16	4	0	0	0	0	0	0	0	2	0	2	5	3	3	1	5	3	1	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67235531G>A	uc002esa.3	+	9	1106	c.1063G>A	c.(1063-1065)Gac>Aac	p.D355N	ELMO3_uc002esb.3_Missense_Mutation_p.D338N|ELMO3_uc002esc.3_Missense_Mutation_p.D189N	NM_024712	NP_078988	Q96BJ8	ELMO3_HUMAN	Homo sapiens engulfment and cell motility 3 (ELMO3), mRNA.	302	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding			cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		GACGCCCCTGGACCCCTACAG	0.612													A	67235531	G	A	67235531	3	1	250	1	0	0	0	0	1	0	0	0	5108	1174	41	2	1101	2	ELMO3	16	67235531	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	39861665	67235531	23119222	71	17517											
RLTPR	146206	broad.mit.edu	37	chr16	67681849	67681849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggcgctgggggcctcCgaggacagtggggtgagtgg	4	6	22	9	2	0	1	0	1	0	0	1	3	1	2	3	8	0	1	3	8	0	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr16:67681849C>T	uc002etn.3	+	12	1179	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RLTPR_uc010cel.1_Silent_p.S353S|RLTPR_uc010vjr.2_Silent_p.S353S	NM_001013838	NP_001013860	Q6F5E8	LR16C_HUMAN	Homo sapiens RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing (RLTPR), mRNA.	353										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		TGGGGGCCTCCGAGGACAGTG	0.662													T	67681849	C	T	67681849	2	4	250	1	0	0	0	0	0	0	0	1	13485	639	23	1		1	RLTPR	16	67681849	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	446318	67681849	22672904	72	17518											
TP53	7157	broad.mit.edu	37	chr17	7578555	7578555	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttgagggcaggggagtaCtgtaggaagaggaaggagac	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:7578555C>T	uc002gim.2	-	5	570	c.376_splice	c.e5-1	p.Y126_splice	TP53_uc002gig.1_Splice_Site_p.Y126_splice|TP53_uc002gih.3_Splice_Site_p.Y126_splice|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_5'UTR|TP53_uc010cnf.1_5'UTR|TP53_uc002gii.1_5'UTR|TP53_uc010cni.1_Splice_Site_p.Y126_splice|TP53_uc010cnh.1_Splice_Site_p.Y126_splice|TP53_uc002gij.2_Splice_Site_p.Y126_splice|TP53_uc010cnj.1_Splice_Site|TP53_uc002gin.2_Splice_Site_p.Y33_splice|TP53_uc002gio.2_Splice_Site|TP53_uc010vug.2_Splice_Site_p.Y87_splice	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching 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 -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		CAGGGGAGTACTGTAGGAAGA	0.552		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)			T	7578555	C	T	7578555	5	4	250	1	0	0	0	0	0	0	1	0	16482	579	20	2	923	2	TP53	17	7578555	Splice_Site	SNP	C	TCGA-41-5651-01A-01D-1696-08		7578555	73616655	73	17519											
SCN4A	6329	broad.mit.edu	37	chr17	62034852	62034852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgttcagcgttggccaCgacttggccagcttgaagac	9	9	12	11	2	1	2	1	1	0	1	1	3	1	2	2	2	3	4	2	2	1	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:62034852C>T	uc002jds.1	-	12	2123	c.2046G>A	c.(2044-2046)tcG>tcA	p.S682S		NM_000334	NP_000325	P35499	SCN4A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, alpha subunit (SCN4A), mRNA.	682					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.S682L(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GCGTTGGCCACGACTTGGCCA	0.592													T	62034852	C	T	62034852	2	4	250	1	0	0	0	0	0	0	0	1	14013	523	19	1		1	SCN4A	17	62034852	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	54456297	62034852	19160358	74	17520											
EVPL	2125	broad.mit.edu	37	chr17	74011625	74011625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggcagcggggcccaCgggccgcgtggacagaaacg	8	2	18	13	5	0	1	0	0	0	1	0	2	0	2	2	5	3	2	2	5	1	0			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr17:74011625C>T	uc010wss.1	-	14	2089	c.1861G>A	c.(1861-1863)Gtg>Atg	p.V621M	EVPL_uc002jqi.2_Missense_Mutation_p.V599M|EVPL_uc010wst.1_Missense_Mutation_p.V69M	NM_001988	NP_001979	Q92817	EVPL_HUMAN	Homo sapiens envoplakin (EVPL), mRNA.	599	Globular 1.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GCGGGGCCCACGGGCCGCGTG	0.647													T	74011625	C	T	74011625	3	4	250	1	0	0	0	0	1	0	0	0	5333	536	19	1	4338	1	EVPL	17	74011625	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	11976773	74011625	7183585	75	17521											
SLC14A2	8170	broad.mit.edu	37	chr18	43262345	43262345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccttcctgctcctgaCgaccaataaccccgccatct	8	10	4	19	2	2	1	1	1	2	0	5	2	4	1	7	0	2	1	7	0	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr18:43262345C>T	uc002lbe.3	+	19	3440	c.2624C>T	c.(2623-2625)aCg>aTg	p.T875M	SLC14A2_uc010dnj.3_Missense_Mutation_p.T875M	NM_007163	NP_009094	Q15849	UT2_HUMAN	Homo sapiens solute carrier family 14 (urea transporter), member 2 (SLC14A2), transcript variant 1, mRNA.	875						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGCTCCTGACGACCAATAAC	0.547													T	43262345	C	T	43262345	3	4	250	1	0	0	0	0	1	0	0	0	14491	536	19	1	2698	1	SLC14A2	18	43262345	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08		43262345	34814903	76	17522											
MUC16	94025	broad.mit.edu	37	chr19	9033637	9033637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttctctctctgtggcGttgaacttcctggaaccagg	6	13	11	11	1	2	1	0	1	2	0	5	2	3	2	2	3	3	3	2	3	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:9033637G>A	uc002mkp.3	-	8	36504	c.36300C>T	c.(36298-36300)aaC>aaT	p.N12100N		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	12102	SEA 1.				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						TCTCTGTGGCGTTGAACTTCC	0.597													A	9033637	G	A	9033637	2	1	250	1	0	0	0	0	0	0	0	1	10049	1136	40	1		1	MUC16	19	9033637	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		9033637	50095346	77	17523											
ZNF439	90594	broad.mit.edu	37	chr19	11978931	11978931	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacataagaatgcactcTggagaaagaccttatgaatg	17	8	8	8	0	1	4	0	1	1	3	1	5	1	4	1	1	1	1	1	1	5	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:11978931T>C	uc002mss.3	+	2	1175	c.1047T>C	c.(1045-1047)tcT>tcC	p.S349S	ZNF439_uc002msr.3_Silent_p.S213S	NM_152262	NP_689475	Q8NDP4	ZN439_HUMAN	Homo sapiens zinc finger protein 439 (ZNF439), mRNA.	349					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						GAATGCACTCTGGAGAAAGAC	0.373													C	11978931	T	C	11978931	2	2	250	1	0	0	0	0	0	0	0	1	18012	1567	55	3		3	ZNF439	19	11978931	Silent	SNP	T	TCGA-41-5651-01A-01D-1696-08	2945294	11978931	47150052	78	17524											
SLC1A6	6511	broad.mit.edu	37	chr19	15083572	15083572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtttcggcgcaggaagcGcagcacgtgctcgagggtca	7	6	17	11	6	1	0	1	0	0	0	3	2	1	1	0	4	3	5	0	4	1	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:15083572G>A	uc002naa.1	-	0	158	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	SLC1A6_uc010dzu.1_Missense_Mutation_p.R51C|SLC1A6_uc010xod.1_Missense_Mutation_p.A55V|SLC1A6_uc002nab.3_Missense_Mutation_p.R51C|SLC1A6_uc002nac.3_Missense_Mutation_p.R51C|SLC1A6_uc002nad.1_Missense_Mutation_p.R51C	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	51					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CGCAGGAAGCGCAGCACGTGC	0.677													A	15083572	G	A	15083572	3	1	250	1	0	0	0	0	1	0	0	0	14530	1087	38	1	1579	1	SLC1A6	19	15083572	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	3104641	15083572	44045411	79	17525											
CYP2A13	1553	broad.mit.edu	37	chr19	41597756	41597756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcacaaccagcgcacGctggatcccaattccccacg	10	5	10	16	3	0	0	0	0	0	0	2	2	2	2	4	2	3	3	4	2	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:41597756G>A	uc002opt.3	+	4	783	c.774G>A	c.(772-774)acG>acA	p.T258T		NM_000766	NP_000757	Q16696	CP2AD_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily A, polypeptide 13 (CYP2A13), mRNA.	258					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding	p.T258T(2)|p.R257C(1)		breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	ACCAGCGCACGCTGGATCCCA	0.587													A	41597756	G	A	41597756	2	1	250	1	0	0	0	0	0	0	0	1	4194	1074	38	1		1	CYP2A13	19	41597756	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	26514184	41597756	17531227	80	17526											
ATP1A3	478	broad.mit.edu	37	chr19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctcaatctcgatggCgatgggcgtcttgcccacct	7	10	12	12	3	3	0	1	0	2	0	4	3	3	0	2	2	2	1	2	2	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:42489240C>T	uc002osh.3	-	7	977	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	ATP1A3_uc010xwf.2_Missense_Mutation_p.A286T|ATP1A3_uc010xwg.2_Missense_Mutation_p.A245T|ATP1A3_uc002osg.3_Missense_Mutation_p.A275T|ATP1A3_uc010xwh.2_Missense_Mutation_p.A288T			P13637	AT1A3_HUMAN	Homo sapiens ATPase, Na+/K+ transporting, alpha 3 polypeptide (ATP1A3), transcript variant 1, mRNA.	275					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632													T	42489240	C	T	42489240	3	4	250	1	0	0	0	0	1	0	0	0	1135	768	27	1	2282	1	ATP1A3	19	42489240	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	891484	42489240	16639743	81	17527											
ZNF324	25799	broad.mit.edu	37	chr19	58982200	58982200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcgtcttccctgttgccgGtgcctgccacagtgtaaaaa	8	11	10	12	2	1	0	0	0	1	0	2	0	2	0	4	1	4	2	4	1	4	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr19:58982200G>A	uc002qsw.2	+	3	486	c.341G>A	c.(340-342)gGt>gAt	p.G114D		NM_014347	NP_055162	O75467	Z324A_HUMAN	Homo sapiens zinc finger protein 324 (ZNF324), mRNA.	114					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G114D(2)		breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCTGTTGCCGGTGCCTGCCAC	0.567													A	58982200	G	A	58982200	3	1	250	1	0	0	0	0	1	0	0	0	17945	1261	44	2	351	2	ZNF324	19	58982200	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	16492960	58982200	146783	82	17528											
KIF16B	55614	broad.mit.edu	37	chr20	16254013	16254013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgatgtggaggggagatGttgcggactggagcatcacg	8	10	18	5	2	1	2	1	1	0	1	1	6	1	5	0	5	2	3	0	5	0	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:16254013G>A	uc002wpg.2	-	25	3998	c.3839C>T	c.(3838-3840)aCa>aTa	p.T1280I	KIF16B_uc002wpe.1_Missense_Mutation_p.T632I|KIF16B_uc002wpf.1_Missense_Mutation_p.T621I|KIF16B_uc010gch.2_Missense_Mutation_p.T1229I	NM_024704	NP_078980	Q96L93	KI16B_HUMAN	Homo sapiens kinesin family member 16B (KIF16B), transcript variant 2, mRNA.	1280	PX.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.A1279P(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						GAGGGGAGATGTTGCGGACTG	0.473													A	16254013	G	A	16254013	3	1	250	1	0	0	0	0	1	0	0	0	8336	1377	48	2	118	2	KIF16B	20	16254013	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08		16254013	46771507	83	17529											
SEC23B	10483	broad.mit.edu	37	chr20	18507120	18507120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaattaaagattcctattcGttcttggcatgatattgaga	12	16	8	5	1	1	4	0	3	1	2	3	5	2	4	1	1	0	2	1	1	5	8			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:18507120G>A	uc002wra.2	+	7	1399	c.938G>A	c.(937-939)cGt>cAt	p.R313H	SEC23B_uc010zsb.2_Missense_Mutation_p.R295H|SEC23B_uc002wrb.2_Missense_Mutation_p.R313H|SEC23B_uc002wqz.2_Missense_Mutation_p.R313H|SEC23B_uc002wrc.2_Missense_Mutation_p.R313H	NM_032985	NP_116781	Q15437	SC23B_HUMAN	Homo sapiens Sec23 homolog B (S. cerevisiae) (SEC23B), transcript variant 2, mRNA.	313			R -> H.		ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTCCTATTCGTTCTTGGCAT	0.458													A	18507120	G	A	18507120	3	1	250	1	0	0	0	0	1	0	0	0	14085	1145	40	1	964	1	SEC23B	20	18507120	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	2253107	18507120	44518400	84	17530											
FAM83D	81610	broad.mit.edu	37	chr20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-																															agaggccgggagaggagggcGcggcggcggcggcggcggcc																										TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:37555323_37555325delGCG	uc002xjg.3	+	0	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del	FAM83D_uc002xjf.3_In_Frame_Del_p.A116del	NM_030919	NP_112181	Q9H4H8	FA83D_HUMAN	Homo sapiens family with sequence similarity 83, member D (FAM83D), mRNA.	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719													-	37555325	GCG	-	37555323	7	5	250	1	0	1	0	1	0	0	0	0	5686	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-41-5651-01A-01D-1696-08	19048203	37555323	25470197	85	17531											
SLC12A5	57468	broad.mit.edu	37	chr20	44674611	44674611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcattgcatccctcgAcgaggtggcccccatcctct	6	10	7	18	2	2	0	1	0	1	0	6	2	5	0	5	2	1	1	5	2	0	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:44674611A>G	uc010zxl.1	+	12	1809	c.1733A>G	c.(1732-1734)gAc>gGc	p.D578G	SLC12A5_uc010zxm.1_Non-coding_Transcript|SLC12A5_uc002xrb.2_Missense_Mutation_p.D555G	NM_001134771	NP_001128243	Q9H2X9	S12A5_HUMAN	Homo sapiens solute carrier family 12 (potassium/chloride transporter), member 5 (SLC12A5), transcript variant 1, mRNA.	578					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.V578L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	GCATCCCTCGACGAGGTGGCC	0.597													G	44674611	A	G	44674611	3	3	250	1	0	0	0	0	1	0	0	0	14480	275	10	3	1839	3	SLC12A5	20	44674611	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	7119288	44674611	18350909	86	17532											
NFATC2	4773	broad.mit.edu	37	chr20	50159018	50159018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgccgtcgggttggggCtgccgctcgggggcgttcat	1	9	17	14	6	1	0	1	0	0	0	4	0	2	0	4	5	1	4	4	5	0	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:50159018C>T	uc002xwd.3	-	0	241	c.21G>A	c.(19-21)caG>caA	p.Q7Q	NFATC2_uc002xwc.3_Silent_p.Q7Q|NFATC2_uc010zyv.2_5'UTR|NFATC2_uc010zyw.2_5'UTR|NFATC2_uc002xwe.3_Intron|NFATC2_uc010zyx.2_Intron|NFATC2_uc010zyy.2_Intron|NFATC2_uc010zyz.2_Intron	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	7					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGGGTTGGGGCTGCCGCTCGG	0.721													T	50159018	C	T	50159018	2	4	250	1	0	0	0	0	0	0	0	1	10438	796	28	2		2	NFATC2	20	50159018	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	5484407	50159018	12866502	87	17533											
OPRL1	4987	broad.mit.edu	37	chr20	62729401	62729401	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccatccgtgccctcgaCgtccgcacgtccagcaaagc	8	5	8	20	5	0	0	0	0	0	0	4	1	3	0	6	0	3	2	6	0	1	0	rs143380233		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr20:62729401C>T	uc002yic.3	+	3	899	c.480C>T	c.(478-480)gaC>gaT	p.D160D	OPRL1_uc002yid.3_Silent_p.D160D|OPRL1_uc021wgs.1_Silent_p.D160D|OPRL1_uc002yif.4_Silent_p.D155D	NM_182647	NP_872588	P41146	OPRX_HUMAN	Homo sapiens opiate receptor-like 1 (OPRL1), transcript variant 1, mRNA.	160					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					GTGCCCTCGACGTCCGCACGT	0.587													T	62729401	C	T	62729401	2	4	250	1	0	0	0	0	0	0	0	1	10962	535	19	1		1	OPRL1	20	62729401	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	12570383	62729401	296119	88	17534											
ITSN1	6453	broad.mit.edu	37	chr21	35231057	35231057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgctatgatttttgtgaActggaaggagctgattatgt	9	16	13	3	0	0	3	0	3	0	0	0	5	0	5	0	3	3	3	0	3	4	5			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:35231057A>C	uc002yta.1	+	30	4119	c.3851A>C	c.(3850-3852)aAc>aCc	p.N1284T	DONSON_uc002ysn.1_Intron|ITSN1_uc002ytb.1_Missense_Mutation_p.N1279T|ITSN1_uc002ytj.2_Missense_Mutation_p.N1279T|ITSN1_uc010gmm.1_Non-coding_Transcript	NM_003024	NP_003015	Q15811	ITSN1_HUMAN	Homo sapiens intersectin 1 (SH3 domain protein) (ITSN1), transcript variant 1, mRNA.	1284	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ATTTTTGTGAACTGGAAGGAG	0.453													C	35231057	A	C	35231057	3	2	250	1	0	0	0	0	1	0	0	0	7984	43	2	5	3975	5	ITSN1	21	35231057	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08		35231057	12898838	89	17535											
IGSF5	150084	broad.mit.edu	37	chr21	41137664	41137664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaggtacgaccagggCgggaacttcacctcggagat	10	7	13	11	3	2	2	2	0	1	2	4	5	2	3	2	4	2	1	2	4	2	2	rs145170006		TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:41137664C>T	uc002yyo.3	+	2	406	c.303C>T	c.(301-303)ggC>ggT	p.G101G		NM_001080444	NP_001073913	Q9NSI5	IGSF5_HUMAN	Homo sapiens immunoglobulin superfamily, member 5 (IGSF5), mRNA.	101	Ig-like V-type 1.					integral to membrane|tight junction				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(7)|skin(2)|stomach(1)	23		Prostate(19;5.35e-06)				ACGACCAGGGCGGGAACTTCA	0.557													T	41137664	C	T	41137664	2	4	250	1	0	0	0	0	0	0	0	1	7660	755	27	1		1	IGSF5	21	41137664	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	5906607	41137664	6992231	90	17536											
ITGB2	3689	broad.mit.edu	37	chr21	46320382	46320382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcgtgacgttgcgccagccGatttcctcctgagaagaagg	8	8	13	12	5	0	3	0	2	0	2	2	5	2	3	4	1	2	1	4	1	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr21:46320382G>A	uc002zgd.2	-	5	794	c.750C>T	c.(748-750)atC>atT	p.I250I	ITGB2_uc002zgf.3_Silent_p.I250I|ITGB2_uc011afl.1_Silent_p.I172I|ITGB2_uc010gpw.2_Silent_p.I193I|ITGB2_uc002zgg.2_Silent_p.I250I	NM_001127491	NP_001120963	P05107	ITB2_HUMAN	Homo sapiens integrin, beta 2 (complement component 3 receptor 3 and 4 subunit) (ITGB2), transcript variant 2, mRNA.	250	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	TGCGCCAGCCGATTTCCTCCT	0.647													A	46320382	G	A	46320382	2	1	250	1	0	0	0	0	0	0	0	1	7952	1048	37	1		1	ITGB2	21	46320382	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08	5182718	46320382	1809513	91	17537											
SEC14L3	266629	broad.mit.edu	37	chr22	30856050	30856050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatttctgcatgccctcGtcagggagcaggacctccac	8	10	9	14	1	3	0	2	0	1	0	5	2	4	2	3	2	3	2	3	2	1	2	rs116181219	by1000genomes	TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30856050G>A	uc003ahy.3	-	11	1250	c.1161C>T	c.(1159-1161)gaC>gaT	p.D387D	SEC14L3_uc003ahz.3_Silent_p.D310D|SEC14L3_uc003aia.3_Silent_p.D328D|SEC14L3_uc003aib.3_Silent_p.D328D	NM_174975	NP_777635	Q9UDX4	S14L3_HUMAN	Homo sapiens SEC14-like 3 (S. cerevisiae) (SEC14L3), mRNA.	387						integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	GCATGCCCTCGTCAGGGAGCA	0.502													A	30856050	G	A	30856050	2	1	250	1	0	0	0	0	0	0	0	1	14076	1136	40	1		1	SEC14L3	22	30856050	Silent	SNP	G	TCGA-41-5651-01A-01D-1696-08		30856050	20448516	92	17538											
PES1	23481	broad.mit.edu	37	chr22	30980618	30980618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggtctgcacgtggcacTtgccagtccgcgggaaggtg	7	8	16	10	3	1	0	0	0	1	0	2	2	2	1	2	4	2	2	2	4	2	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chr22:30980618T>C	uc003aij.2	-	4	562	c.455A>G	c.(454-456)aAg>aGg	p.K152R	PES1_uc003aik.2_Missense_Mutation_p.K152R|PES1_uc003aio.1_Missense_Mutation_p.K13R|PES1_uc003ain.1_Missense_Mutation_p.K13R	NM_014303	NP_055118	O00541	PESC_HUMAN	Homo sapiens pescadillo homolog 1, containing BRCT domain (zebrafish) (PES1), transcript variant 1, mRNA.	152	Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|regulation of cell cycle	chromosome|nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	29						CACGTGGCACTTGCCAGTCCG	0.612													C	30980618	T	C	30980618	3	2	250	1	0	0	0	0	1	0	0	0	11809	1609	56	3	1355	3	PES1	22	30980618	Missense_Mutation	SNP	T	TCGA-41-5651-01A-01D-1696-08	124568	30980618	20323948	93	17539											
MXRA5	25878	broad.mit.edu	37	chrX	3235173	3235173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcgatcatcctcttggaCggcagcctccagaggatgcg	7	8	13	13	4	2	1	1	0	1	1	5	4	4	3	3	3	2	1	3	3	0	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:3235173C>T	uc004crg.4	-	5	6706	c.6549G>A	c.(6547-6549)ccG>ccA	p.P2183P		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2183	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCTCTTGGACGGCAGCCTCC	0.637													T	3235173	C	T	3235173	2	4	250	1	0	0	0	0	0	0	0	1	10079	523	19	1		1	MXRA5	23	3235173	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08		3235173	152035387	94	17540											
TLR7	51284	broad.mit.edu	37	chrX	12905182	12905182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcagcatctttctttcCtcaaatgcctgaatctgtca	9	17	4	11	0	6	1	3	1	3	0	7	1	7	1	2	0	2	1	2	0	2	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:12905182C>A	uc004cvc.3	+	2	1694	c.1555C>A	c.(1555-1557)Ctc>Atc	p.L519I		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	519					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TCTTTCTTTCCTCAAATGCCT	0.378													A	12905182	C	A	12905182	3	1	250	1	0	0	0	0	1	0	0	0	16056	681	24	4	1561	4	TLR7	23	12905182	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	9670009	12905182	142365378	95	17541											
DDX53	168400	broad.mit.edu	37	chrX	23019720	23019720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtagaggactttaaaagcGgaaacataaagatactgatt	18	9	9	5	1	0	3	0	1	0	2	0	5	0	5	0	2	3	1	0	2	7	6			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:23019720G>A	uc004daj.3	+	0	1643	c.1546G>A	c.(1546-1548)Gga>Aga	p.G516R		NM_182699	NP_874358	Q86TM3	DDX53_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 53 (DDX53), mRNA.	516	Helicase C-terminal.					nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						CTTTAAAAGCGGAAACATAAA	0.373													A	23019720	G	A	23019720	3	1	250	1	0	0	0	0	1	0	0	0	4405	1117	39	1	1548	1	DDX53	23	23019720	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	10114538	23019720	132250840	96	17542											
CXorf21	80231	broad.mit.edu	37	chrX	30577750	30577750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcatgatgagttcagaCgccagaatctgggtaggaga	11	10	13	7	1	3	5	2	2	1	3	3	6	3	5	1	2	0	2	1	2	2	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:30577750C>T	uc022bui.1	-	0	723	c.723G>A	c.(721-723)gcG>gcA	p.A241A	CXorf21_uc004dcg.2_Silent_p.A241A	NM_025159	NP_079435	Q9HAI6	CX021_HUMAN	Homo sapiens chromosome X open reading frame 21 (CXorf21), mRNA.	241								p.A241E(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						TGAGTTCAGACGCCAGAATCT	0.438													T	30577750	C	T	30577750	2	4	250	1	0	0	0	0	0	0	0	1	4134	523	19	1		1	CXorf21	23	30577750	Silent	SNP	C	TCGA-41-5651-01A-01D-1696-08	7558030	30577750	124692810	97	17543											
GRIPAP1	56850	broad.mit.edu	37	chrX	48839756	48839756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacctccttctcatgccGtagacgaactgctcccagct	8	9	7	17	2	1	1	1	0	1	1	4	2	3	1	4	0	5	4	4	0	2	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:48839756G>A	uc004dly.1	-	15	1404	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	GRIPAP1_uc004dlz.3_Missense_Mutation_p.R347W|GRIPAP1_uc004dma.3_Missense_Mutation_p.R404W	NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	457						early endosome		p.M456V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						TTCTCATGCCGTAGACGAACT	0.597													A	48839756	G	A	48839756	3	1	250	1	0	0	0	0	1	0	0	0	6844	1144	40	1	1254	1	GRIPAP1	23	48839756	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	18262006	48839756	106430804	98	17544											
ZXDA	7789	broad.mit.edu	37	chrX	57936065	57936065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacaggtacagcaccaCgcctggaccagagcccagca	11	2	13	15	1	0	1	0	0	0	1	0	2	0	2	4	4	4	4	4	4	1	1			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:57936065C>T	uc004dve.3	-	0	1003	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	264					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TACAGCACCACGCCTGGACCA	0.726													T	57936065	C	T	57936065	3	4	250	1	0	0	0	0	1	0	0	0	18347	536	19	1	1613	1	ZXDA	23	57936065	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	9096309	57936065	97334495	99	17545											
TAF1	6872	broad.mit.edu	37	chrX	70613222	70613222	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaacaggctcgttctggAgaggggcccatgagtaaatt	12	8	13	8	1	1	3	0	1	1	2	2	4	1	3	1	4	1	3	1	4	3	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:70613222A>C	uc004dzu.4	+	20	3171	c.3120A>C	c.(3118-3120)ggA>ggC	p.G1040G	BCYRN1_uc011mpt.1_Intron|TAF1_uc004dzt.4_Silent_p.G1061G|TAF1_uc004dzv.4_Silent_p.G214G	NM_138923	NP_620278	P21675	TAF1_HUMAN	Homo sapiens TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa (TAF1), transcript variant 2, mRNA.	1040					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CTCGTTCTGGAGAGGGGCCCA	0.468													C	70613222	A	C	70613222	2	2	250	1	0	0	0	0	0	0	0	1	15610	291	11	5		5	TAF1	23	70613222	Silent	SNP	A	TCGA-41-5651-01A-01D-1696-08	12677157	70613222	84657338	100	17546											
ABCB7	22	broad.mit.edu	37	chrX	74291376	74291376	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgactggcgagcaccattAtagctgttaaaccgacactg	11	9	9	12	2	0	1	0	1	0	0	0	3	0	1	3	1	3	3	3	1	4	3			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:74291376A>T	uc004ebz.3	-	8	1203	c.1178T>A	c.(1177-1179)aTa>aAa	p.I393K	ABCB7_uc010nlt.3_Missense_Mutation_p.I352K|ABCB7_uc004eca.3_Missense_Mutation_p.I392K|ABCB7_uc011mqn.2_Missense_Mutation_p.I366K|ABCB7_uc010nls.3_Missense_Mutation_p.I353K	NM_004299	NP_004290	O75027	ABCB7_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 7 (ABCB7), nuclear gene encoding mitochondrial protein, mRNA.	392	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAGCACCATTATAGCTGTTAA	0.388													T	74291376	A	T	74291376	3	4	250	1	0	0	0	0	1	0	0	0	46	449	16	5	1115	5	ABCB7	23	74291376	Missense_Mutation	SNP	A	TCGA-41-5651-01A-01D-1696-08	3678154	74291376	80979184	101	17547											
KIAA1210	57481	broad.mit.edu	37	chrX	118238988	118238988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttatgtggtaaagcCttcttttgtggattcttagg	9	17	9	6	0	3	0	0	0	3	0	3	1	3	1	1	3	2	1	1	3	5	7			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:118238988C>A	uc004era.4	-	6	1035	c.1035G>T	c.(1033-1035)aaG>aaT	p.K345N		NM_020721	NP_065772	Q9ULL0	K1210_HUMAN	Homo sapiens KIAA1210 (KIAA1210), mRNA.	345										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GTGGTAAAGCCTTCTTTTGTG	0.418													A	118238988	C	A	118238988	3	1	250	1	0	0	0	0	1	0	0	0	8272	680	24	4	4126	4	KIAA1210	23	118238988	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	43947612	118238988	37031572	102	17548											
FRMD7	90167	broad.mit.edu	37	chrX	131219611	131219611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggaaagagattttacccGtaacaccagtactcccatgt	15	9	7	10	1	0	1	0	0	0	1	1	3	1	2	3	1	3	2	3	1	5	4			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:131219611G>A	uc004ewn.3	-	6	821	c.643C>T	c.(643-645)Cgg>Tgg	p.R215W	FRMD7_uc022cdy.1_Missense_Mutation_p.R95W|FRMD7_uc011muy.2_Missense_Mutation_p.R200W	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	215	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GATTTTACCCGTAACACCAGT	0.512													A	131219611	G	A	131219611	3	1	250	1	0	0	0	0	1	0	0	0	6107	1144	40	1	1525	1	FRMD7	23	131219611	Missense_Mutation	SNP	G	TCGA-41-5651-01A-01D-1696-08	12980623	131219611	24050949	103	17549											
ATP2B3	492	broad.mit.edu	37	chrX	152818620	152818620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatctgcatcgcctacCgggacttctctgcaggccag	7	8	10	16	2	2	0	0	0	2	0	4	1	2	1	4	2	3	3	4	2	1	2			TCGA-41-5651-01A-01D-1696-08	TCGA-41-5651-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5fd77ba9-5015-4d8b-86a0-582e5c76bdd6	54c65bdd-ac2e-466a-80cb-6f534095f56b	g.chrX:152818620C>T	uc004fht.1	+	10	2077	c.1951C>T	c.(1951-1953)Cgg>Tgg	p.R651W	ATP2B3_uc004fhs.1_Missense_Mutation_p.R651W	NM_001001344	NP_001001344	Q16720	AT2B3_HUMAN	Homo sapiens ATPase, Ca++ transporting, plasma membrane 3 (ATP2B3), transcript variant 2, mRNA.	651					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGCCTACCGGGACTTCTC	0.632													T	152818620	C	T	152818620	3	4	250	1	0	0	0	0	1	0	0	0	1146	643	23	1	1993	1	ATP2B3	23	152818620	Missense_Mutation	SNP	C	TCGA-41-5651-01A-01D-1696-08	21599009	152818620	2451940	104	17550											
CYP4X1	260293	broad.mit.edu	37	chr1	47498961	47498961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtggttccagcatcgtcGcctactaactcctggattcc	8	11	8	14	2	0	0	0	0	0	0	5	1	3	1	4	2	3	2	4	2	3	4	rs116257861	by1000genomes	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:47498961G>A	uc001cqt.3	+	3	663	c.413G>A	c.(412-414)cGc>cAc	p.R138H	CYP4X1_uc001cqr.3_Missense_Mutation_p.R137H|CYP4X1_uc001cqs.3_Missense_Mutation_p.R73H	NM_178033	NP_828847	Q8N118	CP4X1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily X, polypeptide 1 (CYP4X1), mRNA.	138						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						CAGCATCGTCGCCTACTAACT	0.428													A	47498961	G	A	47498961	3	1	251	1	0	0	0	0	1	0	0	0	4226	1087	38	1	427	1	CYP4X1	1	47498961	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		47498961	201751660	1	17551											
CREB3L4	148327	broad.mit.edu	37	chr1	153941905	153941905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcccagagcaggcaccGtagccccagtgccctgtaca	8	6	10	17	1	0	1	0	0	0	1	1	1	1	1	6	1	5	4	6	1	2	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:153941905G>A	uc001fdm.1	+	3	785	c.517G>A	c.(517-519)Gta>Ata	p.V173I	SLC39A1_uc001fdl.3_5'Flank|CREB3L4_uc001fdn.3_Missense_Mutation_p.V173I|CREB3L4_uc010pef.1_Missense_Mutation_p.V26I|CREB3L4_uc001fdo.3_Missense_Mutation_p.V153I|CREB3L4_uc010peg.1_3'UTR|CREB3L4_uc001fdr.2_Missense_Mutation_p.V173I|CREB3L4_uc001fdq.2_Missense_Mutation_p.V153I	NM_130898	NP_570968	Q8TEY5	CR3L4_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 4 (CREB3L4), transcript variant 1, mRNA.	173					response to unfolded protein	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(3)	13	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGCAGGCACCGTAGCCCCAGT	0.532													A	153941905	G	A	153941905	3	1	251	1	0	0	0	0	1	0	0	0	3890	1145	40	1	527	1	CREB3L4	1	153941905	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	106442944	153941905	95308716	2	17552											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179886766	179886766	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagaataagtaccaaggtCaagatgagaagctgtggaaa	18	8	11	4	0	1	3	1	1	0	3	1	5	1	4	1	2	2	2	1	2	8	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:179886766C>T	uc001gnq.3	+	9	1362	c.1144C>T	c.(1144-1146)Caa>Taa	p.Q382*		NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN	Homo sapiens torsin A interacting protein 1 (TOR1AIP1), mRNA.	382						integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						GTACCAAGGTCAAGATGAGAA	0.443													T	179886766	C	T	179886766	4	4	251	1	0	0	0	0	0	1	0	0	16473	827	29	2	1182	2	TOR1AIP1	1	179886766	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	25944861	179886766	69363855	3	17553											
LAMC1	3915	broad.mit.edu	37	chr1	183087214	183087214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggcctgctcttaccccTtttgaatttcagaagctcct	7	14	8	12	0	2	2	1	1	1	1	3	3	3	3	4	2	3	2	4	2	3	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:183087214T>C	uc001gpy.4	+	10	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293	NP_002284	P11047	LAMC1_HUMAN	Homo sapiens laminin, gamma 1 (formerly LAMB2) (LAMC1), mRNA.	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(2)|p.P641L(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418													C	183087214	T	C	183087214	2	2	251	1	0	0	0	0	0	0	0	1	8673	1596	56	3		3	LAMC1	1	183087214	Silent	SNP	T	TCGA-41-6646-01A-11D-1845-08	3200448	183087214	66163407	4	17554											
PPFIA4	8497	broad.mit.edu	37	chr1	203014509	203014509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggaggatacgggccGggtagaggagctgcaggagc	9	4	20	8	2	0	1	0	0	0	1	0	6	0	6	2	7	4	3	2	7	2	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:203014509G>A	uc009xaj.3	+	10	1121	c.1121G>A	c.(1120-1122)cGg>cAg	p.R374Q	PPFIA4_uc010pqf.2_5'UTR			O75335	LIPA4_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4 (PPFIA4), mRNA.	144	SAM 1.				cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GATACGGGCCGGGTAGAGGAG	0.602													A	203014509	G	A	203014509	3	1	251	1	0	0	0	0	1	0	0	0	12389	1131	39	1		1	PPFIA4	1	203014509	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	19927295	203014509	46236112	5	17555											
SLC45A3	2005	broad.mit.edu	37	chr1	205589407	205589407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcaaagggggtatggacGaaatgggtggtgtggtggca	9	8	19	5	1	0	0	0	0	0	0	0	2	0	1	1	7	1	3	1	7	3	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:205589407G>A	uc001hcy.2	-	2	2017	c.767C>T	c.(766-768)tCg>tTg	p.S256L	SLC45A3_uc021pid.1_Non-coding_Transcript|SLC45A3_uc001hcz.3_Missense_Mutation_p.S256L	NM_001973	NP_001964	Q96JT2	S45A3_HUMAN	Homo sapiens ELK4, ETS-domain protein (SRF accessory protein 1) (ELK4), transcript variant a, mRNA.	0					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GGGTATGGACGAAATGGGTGG	0.522			T	"ETV1, ETV5, ELK4, ERG"	prostate								A	205589407	G	A	205589407	3	1	251	1	0	0	0	0	1	0	0	0	14736	1059	37	1		1	SLC45A3	1	205589407	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	2574898	205589407	43661214	6	17556											
MRPL55	128308	broad.mit.edu	37	chr1	228294495	228294495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtccagaactgtcggtagCgctccacatgcaagtcatca	10	9	10	12	2	2	1	2	0	0	1	5	1	4	1	2	2	3	3	2	2	3	1	rs145809265		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:228294495C>T	uc001hrz.4	-	5	750	c.461G>A	c.(460-462)cGc>cAc	p.R154H	MRPL55_uc001hsg.4_Missense_Mutation_p.R118H|MRPL55_uc009xex.3_Missense_Mutation_p.R118H|MRPL55_uc001hsa.4_Missense_Mutation_p.R118H|MRPL55_uc001hsb.4_Missense_Mutation_p.R118H|MRPL55_uc001hsc.4_Missense_Mutation_p.R118H|MRPL55_uc001hsd.4_Missense_Mutation_p.R118H|MRPL55_uc001hse.4_Missense_Mutation_p.R118H|MRPL55_uc001hsf.4_Missense_Mutation_p.R118H	NM_181462	NP_852127	Q7Z7F7	RM55_HUMAN	Homo sapiens mitochondrial ribosomal protein L55 (MRPL55), nuclear gene encoding mitochondrial protein, transcript variant 4, mRNA.	118					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CTGTCGGTAGCGCTCCACATG	0.592													T	228294495	C	T	228294495	3	4	251	1	0	0	0	0	1	0	0	0	9895	768	27	1	37	1	MRPL55	1	228294495	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	22705088	228294495	20956126	7	17557											
RYR2	6262	broad.mit.edu	37	chr1	237632437	237632437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaactgtgctcaattttctgGctccctcgactggttgatca	8	14	8	11	1	3	1	2	1	1	0	5	2	4	1	1	2	2	3	1	2	2	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:237632437G>A	uc001hyl.1	+	16	1778	c.1658G>A	c.(1657-1659)gGc>gAc	p.G553D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	553					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.G551V(1)|p.L553L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAATTTTCTGGCTCCCTCGAC	0.373													A	237632437	G	A	237632437	3	1	251	1	0	0	0	0	1	0	0	0	13860	1203	42	2	1724	2	RYR2	1	237632437	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	9337942	237632437	11618184	8	17558											
OR2T11	127077	broad.mit.edu	37	chr1	248789661	248789661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaggactggggcagcaCgtatgtgtagaaggcagccc	10	6	17	8	1	0	1	0	0	0	1	0	3	0	3	1	5	2	5	1	5	4	2	rs139227153	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr1:248789661C>T	uc001ier.1	-	0	769	c.769G>A	c.(769-771)Gtg>Atg	p.V257M		NM_001001964	NP_001001964	Q8NH01	O2T11_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 11 (OR2T11), mRNA.	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y256Y(1)		breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGGGGCAGCACGTATGTGTAG	0.532													T	248789661	C	T	248789661	3	4	251	1	0	0	0	0	1	0	0	0	11094	536	19	1	185	1	OR2T11	1	248789661	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	11157224	248789661	460960	9	17559											
NPHP1	4867	broad.mit.edu	37	chr2	110922207	110922207	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagtctccatcctatttcGcatcagaactattaggtagc	11	12	6	12	1	2	1	1	0	1	1	5	1	3	1	2	1	2	2	2	1	5	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:110922207G>A	uc002tfn.4	-	7	923	c.829C>T	c.(829-831)Cga>Tga	p.R277*	NPHP1_uc002tfm.4_Intron|NPHP1_uc002tfl.4_Nonsense_Mutation_p.R277*|NPHP1_uc002tfo.4_Intron|NPHP1_uc010ywx.2_Intron|NPHP1_uc010fjv.1_Intron	NM_207181	NP_997064	O15259	NPHP1_HUMAN	Homo sapiens nephronophthisis 1 (juvenile) (NPHP1), transcript variant 2, mRNA.	277					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						ATCCTATTTCGCATCAGAACT	0.458													A	110922207	G	A	110922207	4	1	251	1	0	0	0	0	0	1	0	0	10655	1095	38	1	1424	1	NPHP1	2	110922207	Nonsense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		110922207	132277166	10	17560											
NCKAP5	344148	broad.mit.edu	37	chr2	133547632	133547632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatcgtgccacgtgtaGgaggagccactggagtactc	8	9	12	12	2	0	0	0	0	0	0	3	3	1	3	3	3	3	2	3	3	2	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:133547632G>A	uc002ttp.3	-	12	1430	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	NCKAP5_uc002ttq.3_Silent_p.S352S	NM_207363	NP_997246	O14513	NCKP5_HUMAN	Homo sapiens NCK-associated protein 5 (NCKAP5), transcript variant 1, mRNA.	352	Ser-rich.						protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCCACGTGTAGGAGGAGCCAC	0.522													A	133547632	G	A	133547632	2	1	251	1	0	0	0	0	0	0	0	1	10299	987	35	2		2	NCKAP5	2	133547632	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08	22625425	133547632	109651741	11	17561											
ITGA6	3655	broad.mit.edu	37	chr2	173356005	173356005	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgctgcgggggctggaCagcaaggcgtctcttatttt	5	11	14	11	3	1	0	0	0	1	0	2	1	1	1	1	4	3	3	1	4	2	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:173356005C>T	uc002uhp.1	+	21	3038	c.2835C>T	c.(2833-2835)gaC>gaT	p.D945D	ITGA6_uc010zdy.1_Silent_p.D826D|ITGA6_uc002uho.1_Silent_p.D945D|ITGA6_uc010fqm.1_Silent_p.D576D	NM_001079818	NP_001073286	P23229	ITA6_HUMAN	Homo sapiens integrin, alpha 6 (ITGA6), transcript variant 1, mRNA.	984					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			GGGGGCTGGACAGCAAGGCGT	0.473													T	173356005	C	T	173356005	2	4	251	1	0	0	0	0	0	0	0	1	7938	477	17	2		2	ITGA6	2	173356005	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08	39808373	173356005	69843368	12	17562											
PLCL1	5334	broad.mit.edu	37	chr2	198950624	198950624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgagctggccatgatcCgttttgttgttctggatgat	6	16	11	8	1	1	3	0	3	1	0	2	4	2	4	3	2	2	4	3	2	1	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr2:198950624C>T	uc010fsp.3	+	1	2781	c.2383C>T	c.(2383-2385)Cgt>Tgt	p.R795C	PLCL1_uc002uuv.4_Missense_Mutation_p.R716C	NM_006226	NP_006217	Q15111	PLCL1_HUMAN	Homo sapiens phospholipase C-like 1 (PLCL1), mRNA.	795	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGCCATGATCCGTTTTGTTGT	0.398													T	198950624	C	T	198950624	3	4	251	1	0	0	0	0	1	0	0	0	12116	652	23	1	2389	1	PLCL1	2	198950624	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	25594619	198950624	44248749	13	17563											
EPHA3	2042	broad.mit.edu	37	chr3	89478302	89478302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatggagaatggttccttGgatagtttcctacgtgtaag	10	14	11	6	1	0	1	0	0	0	1	2	3	2	2	2	3	2	3	2	3	5	7			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr3:89478302G>A	uc003dqy.3	+	11	2346	c.2121G>A	c.(2119-2121)ttG>ttA	p.L707L	EPHA3_uc021xbf.1_Silent_p.L707L	NM_005233	NP_005224	P29320	EPHA3_HUMAN	Homo sapiens EPH receptor A3 (EPHA3), transcript variant 1, mRNA.	707	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ATGGTTCCTTGGATAGTTTCC	0.323										TSP Lung(6;0.00050)			A	89478302	G	A	89478302	2	1	251	1	0	0	0	0	0	0	0	1	5209	1339	47	2		2	EPHA3	3	89478302	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08		89478302	108544128	14	17564											
PTTG2	10744	broad.mit.edu	37	chr4	37962337	37962337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgccaaaaagatgacCgagaagactgttaaaacaaa	18	9	7	7	1	1	4	0	1	1	3	1	5	1	4	2	0	2	1	2	0	6	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:37962337C>T	uc011bye.2	+	0	282	c.282C>T	c.(280-282)acC>acT	p.T94T	TBC1D1_uc003gtb.3_Intron|TBC1D1_uc011byd.2_Intron|TBC1D1_uc010ifd.3_Intron	NM_006607	NP_006598	Q9NZH5	PTTG2_HUMAN	Homo sapiens pituitary tumor-transforming 2 (PTTG2), mRNA.	94					chromosome organization|DNA metabolic process	cytoplasm|nucleus	SH3 domain binding			breast(1)|endometrium(1)|lung(4)|skin(1)	7						AAAAGATGACCGAGAAGACTG	0.403													T	37962337	C	T	37962337	2	4	251	1	0	0	0	0	0	0	0	1	12909	639	23	1		1	PTTG2	4	37962337	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08		37962337	153191939	15	17565											
SHROOM3	57619	broad.mit.edu	37	chr4	77661478	77661478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgggagccatctggacCggcaggtttcctacccgcgg	6	7	13	15	4	1	0	0	0	1	0	3	2	2	2	5	5	2	2	5	5	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:77661478C>T	uc011cbx.2	+	4	3105	c.2152C>T	c.(2152-2154)Cgg>Tgg	p.R718W	SHROOM3_uc011cbz.1_Missense_Mutation_p.R542W|SHROOM3_uc003hkf.1_Missense_Mutation_p.R593W|SHROOM3_uc003hkg.3_Missense_Mutation_p.R496W	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	718					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCATCTGGACCGGCAGGTTTC	0.677													T	77661478	C	T	77661478	3	4	251	1	0	0	0	0	1	0	0	0	14389	643	23	1	2170	1	SHROOM3	4	77661478	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	39699141	77661478	113492798	16	17566											
HNRPDL	9987	broad.mit.edu	37	chr4	83348672	83348672	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgataaaacaaaatcctcTtctttcatttgtttttgtat	11	20	4	6	0	3	1	1	1	2	0	4	1	4	1	1	0	1	2	1	0	5	7			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:83348672T>C	uc003hmr.3	-	3	1355	c.820A>G	c.(820-822)Aga>Gga	p.R274G	HNRPDL_uc003hmq.3_Non-coding_Transcript|HNRPDL_uc003hmt.3_Missense_Mutation_p.R274G	NM_031372	NP_112740	O14979	HNRDL_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein D-like (HNRPDL), transcript variant 2, mRNA.	274	RRM 2.				regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|heterogeneous nuclear ribonucleoprotein complex	double-stranded DNA binding|nucleotide binding|poly(A) RNA binding|protein binding|single-stranded DNA binding			breast(2)|endometrium(2)|kidney(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Hepatocellular(203;0.114)				CAAAATCCTCTTCTTTCATTT	0.333													C	83348672	T	C	83348672	3	2	251	1	0	0	0	0	1	0	0	0	7331	1617	56	3	458	3	HNRPDL	4	83348672	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	5687194	83348672	107805604	17	17567											
CLGN	1047	broad.mit.edu	37	chr4	141313760	141313760	+	Frame_Shift_Del	DEL	A	A	-																															ctttacttttcttggccaacAaaatgaagtaattaatgcta																										TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:141313760delA	uc011chi.2	-	12	1689	c.1471delT	c.(1471-1473)tgtfs	p.C491fs	CLGN_uc003iii.3_Frame_Shift_Del_p.C491fs	NM_001130675	NP_004353	O14967	CLGN_HUMAN	Homo sapiens calmegin (CLGN), transcript variant 2, mRNA.	491					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CTTGGCCAACAAAATGAAGTA	0.348													-	141313760	A	-	141313760	7	5	251	1	0	1	0	1	0	0	0	0	3555	130	5	0	377	0	CLGN	4	141313760	Frame_Shift_Del	DEL	A	TCGA-41-6646-01A-11D-1845-08	57965088	141313760	49840516	18	17568											
FGG	2266	broad.mit.edu	37	chr4	155533209	155533209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggattataagtgagttggaTtgcttttatcagctgtttga	10	17	11	3	0	1	2	1	2	0	0	1	4	1	4	0	2	2	4	0	2	3	7			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:155533209T>C	uc003ioj.3	-	2	409	c.268A>G	c.(268-270)Atc>Gtc	p.I90V	FGG_uc003iog.3_Missense_Mutation_p.I90V	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	90					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GTGAGTTGGATTGCTTTTATC	0.313													C	155533209	T	C	155533209	3	2	251	1	0	0	0	0	1	0	0	0	5919	1493	52	3	1140	3	FGG	4	155533209	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	14219449	155533209	35621067	19	17569											
SPOCK3	50859	broad.mit.edu	37	chr4	168155201	168155201	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattgtggtgagccattgttTatcatccagaaaattaccgc	11	13	9	8	1	1	2	1	1	0	1	2	3	2	2	3	1	2	1	3	1	4	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr4:168155201T>A	uc011cjq.1	-	0	217	c.160A>T	c.(160-162)Aaa>Taa	p.K54*	SPOCK3_uc021xuf.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjr.1_5'UTR|SPOCK3_uc003iri.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjs.1_5'UTR|SPOCK3_uc003irj.1_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjt.1_5'UTR|SPOCK3_uc011cjp.2_Nonsense_Mutation_p.K42*|SPOCK3_uc011cju.1_Silent_p.I2I|SPOCK3_uc011cjv.1_Nonsense_Mutation_p.K42*|SPOCK3_uc003irk.4_Nonsense_Mutation_p.K42*|SPOCK3_uc011cjw.1_Non-coding_Transcript	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	42					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		AGCCATTGTTTATCATCCAGA	0.597													A	168155201	T	A	168155201	4	1	251	1	0	0	0	0	0	1	0	0	15177	1763	61	5	1230	5	SPOCK3	4	168155201	Nonsense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	12621992	168155201	22999075	20	17570											
ATOX1	475	broad.mit.edu	37	chr5	151131276	151131276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcactcacctccaagcttaTtgaggacccgagagacagct	11	8	8	14	1	2	2	2	1	0	1	3	5	3	3	3	1	2	2	3	1	2	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr5:151131276T>C	uc003luk.3	-	1	169	c.71A>G	c.(70-72)aAt>aGt	p.N24S		NM_004045	NP_004036	O00244	ATOX1_HUMAN	Homo sapiens ATX1 antioxidant protein 1 homolog (yeast) (ATOX1), mRNA.	24	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TCCAAGCTTATTGAGGACCCG	0.527													C	151131276	T	C	151131276	3	2	251	1	0	0	0	0	1	0	0	0	1120	1493	52	3	143	3	ATOX1	5	151131276	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08		151131276	29783984	21	17571											
CSNK2B	1460	broad.mit.edu	37	chr6	31637272	31637272	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaagagacctgccaacCagtttgtgcccaggtaggga	10	6	13	12	0	0	1	0	0	0	1	0	3	0	2	5	3	3	2	5	3	3	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:31637272C>T	uc003nvr.1	+	5	884	c.544C>T	c.(544-546)Cag>Tag	p.Q182*	LY6G5B_uc003nvt.1_5'Flank	NM_001320	NP_001311	P67870	CSK2B_HUMAN	Homo sapiens casein kinase 2, beta polypeptide (CSNK2B), mRNA.	182					adiponectin-mediated signaling pathway|axon guidance|cellular protein complex assembly|negative regulation of cell proliferation|regulation of DNA binding|Wnt receptor signaling pathway	cytosol|nucleus|protein kinase CK2 complex	identical protein binding|protein domain specific binding|protein kinase regulator activity|receptor binding|transcription factor binding			central_nervous_system(5)|endometrium(1)|large_intestine(2)|liver(1)|urinary_tract(1)	10						ACCTGCCAACCAGTTTGTGCC	0.572													T	31637272	C	T	31637272	4	4	251	1	0	0	0	0	0	1	0	0	3992	595	21	2	562	2	CSNK2B	6	31637272	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		31637272	139477795	22	17572											
UNC5CL	222643	broad.mit.edu	37	chr6	40996200	40996200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccgtgtgtcccactcaggTagttctggatggcggaggcg	5	9	16	11	4	2	0	1	0	1	0	3	2	3	2	2	5	0	2	2	5	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:40996200T>C	uc003opi.3	-	8	1568	c.1469A>G	c.(1468-1470)tAc>tGc	p.Y490C		NM_173561	NP_775832	Q8IV45	UN5CL_HUMAN	Homo sapiens unc-5 homolog C (C. elegans)-like (UNC5CL), mRNA.	490	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCACTCAGGTAGTTCTGGAT	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	40996200	T	C	40996200	3	2	251	1	0	0	0	0	1	0	0	0	17096	1638	57	3	91	3	UNC5CL	6	40996200	Missense_Mutation	SNP	T	TCGA-41-6646-01A-11D-1845-08	9358928	40996200	130118867	23	17573											
TRERF1	55809	broad.mit.edu	37	chr6	42231242	42231242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggagctgtggtggcggcGgaggcggaggcggaggcggc	5	3	26	7	5	0	0	0	0	0	0	0	5	0	4	0	11	1	1	0	11	0	0			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr6:42231242G>A	uc003ose.2	-	7	2263	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	TRERF1_uc011duq.1_Intron|TRERF1_uc003osb.2_Intron|TRERF1_uc003osc.2_Intron|TRERF1_uc003osd.2_Missense_Mutation_p.P567L	NM_033502	NP_277037	Q96PN7	TREF1_HUMAN	Homo sapiens transcriptional regulating factor 1 (TRERF1), mRNA.	567	Interacts with CREBBP.|Pro-rich.				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	p.P567P(1)|p.P569_P570delPP(1)		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)			tggtggcggcggaggcggagg	0.642													A	42231242	G	A	42231242	3	1	251	1	0	0	0	0	1	0	0	0	16576	1116	39	1	1946	1	TRERF1	6	42231242	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1235042	42231242	128883825	24	17574											
EIF3B	8662	broad.mit.edu	37	chr7	2412424	2412424	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacaacgggaagattgaaCtcatcagtaagtaacctggt	17	8	9	7	1	2	2	2	1	0	1	2	3	2	3	1	2	4	2	1	2	7	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:2412424C>G	uc003slx.3	+	11	1887	c.1804C>G	c.(1804-1806)Ctc>Gtc	p.L602V	EIF3B_uc003sly.3_Missense_Mutation_p.L602V|EIF3B_uc003sma.3_Missense_Mutation_p.L330V	NM_003751	NP_003742	P55884	EIF3B_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit B (EIF3B), transcript variant 1, mRNA.	602					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GAAGATTGAACTCATCAGTAA	0.507													G	2412424	C	G	2412424	3	3	251	1	0	0	0	0	1	0	0	0	5052	565	20	4	1850	4	EIF3B	7	2412424	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		2412424	156726239	25	17575											
GAL3ST4	79690	broad.mit.edu	37	chr7	99764391	99764391	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagggctggtcgtagggAtggggccgagggctgtcgga	6	6	22	7	4	0	0	0	0	0	0	2	4	0	3	1	8	0	3	1	8	2	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:99764391A>T	uc003utt.3	-	1	1180	c.163T>A	c.(163-165)Tcc>Acc	p.S55T	GAL3ST4_uc022aii.1_Intron|GAL3ST4_uc003utu.3_Missense_Mutation_p.S55T	NM_024637	NP_078913	Q96RP7	G3ST4_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 4 (GAL3ST4), mRNA.	55					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGTCGTAGGGATGGGGCCGAG	0.622													T	99764391	A	T	99764391	3	4	251	1	0	0	0	0	1	0	0	0	6254	333	12	5	1305	5	GAL3ST4	7	99764391	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	97351967	99764391	59374272	26	17576											
DOCK4	9732	broad.mit.edu	37	chr7	111540437	111540437	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaaacacttactggaacaAtgccgaaactcgaagcggat	16	6	8	11	3	0	0	0	0	0	0	1	4	0	2	2	2	6	0	2	2	6	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr7:111540437A>C	uc003vfy.3	-	14	1742	c.1473T>G	c.(1471-1473)caT>caG	p.H491Q	DOCK4_uc003vfx.3_Missense_Mutation_p.H491Q|DOCK4_uc003vga.1_Missense_Mutation_p.H96Q	NM_014705	NP_055520	Q8N1I0	DOCK4_HUMAN	Homo sapiens dedicator of cytokinesis 4 (DOCK4), mRNA.	491	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TACTGGAACAATGCCGAAACT	0.473													C	111540437	A	C	111540437	3	2	251	1	0	0	0	0	1	0	0	0	4728	98	4	5	4579	5	DOCK4	7	111540437	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	11776046	111540437	47598226	27	17577											
DLGAP2	9228	broad.mit.edu	37	chr8	1581155	1581155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggctactcccaagatgacGaatgtattcccatgatgaca	12	9	8	12	2	0	4	0	3	0	1	2	5	2	4	3	1	1	2	3	1	4	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:1581155G>A	uc003wpl.3	+	4	1610	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	DLGAP2_uc003wpm.3_Missense_Mutation_p.E505K	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	584					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding	p.E527K(1)		breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCAAGATGACGAATGTATTCC	0.547													A	1581155	G	A	1581155	3	1	251	1	0	0	0	0	1	0	0	0	4599	1059	37	1	1527	1	DLGAP2	8	1581155	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		1581155	144782867	28	17578											
NUDCD1	84955	broad.mit.edu	37	chr8	110308796	110308796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggttttcctaaggcagtGtcctaaaaagaccaaacatt	13	11	8	9	1	0	1	0	0	0	1	2	1	2	1	3	2	1	2	3	2	5	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr8:110308796G>C	uc003ynb.4	-	2	387	c.276C>G	c.(274-276)gaC>gaG	p.D92E	NUDCD1_uc003yna.3_Missense_Mutation_p.D63E|NUDCD1_uc010mcl.3_Missense_Mutation_p.D5E|NUDCD1_uc010mcm.1_Missense_Mutation_p.D5E	NM_032869	NP_116258	Q96RS6	NUDC1_HUMAN	Homo sapiens NudC domain containing 1 (NUDCD1), transcript variant 1, mRNA.	92										breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			CTAAGGCAGTGTCCTAAAAAG	0.403													C	110308796	G	C	110308796	3	2	251	1	0	0	0	0	1	0	0	0	10798	1368	48	4	1507	4	NUDCD1	8	110308796	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	108727641	110308796	36055226	29	17579											
NEBL	10529	broad.mit.edu	37	chr10	21185902	21185902	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatcgctaatgagttcCgtgcattttctggccaattc	8	15	7	11	2	1	1	0	1	1	0	4	1	2	1	2	1	2	3	2	1	3	6			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr10:21185902C>T	uc001iqi.3	-	1	535	c.138G>A	c.(136-138)acG>acA	p.T46T	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	46					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TAATGAGTTCCGTGCATTTTC	0.353													T	21185902	C	T	21185902	2	4	251	1	0	0	0	0	0	0	0	1	10379	639	23	1		1	NEBL	10	21185902	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08		21185902	114348845	30	17580											
OR52E2	119678	broad.mit.edu	37	chr11	5080175	5080175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttcatgagtaggaagaCggaaaacagcacaaagaata	18	5	12	6	1	1	3	1	1	0	2	1	5	1	5	0	3	2	3	0	3	7	3	rs141087990		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:5080175C>T	uc010qyw.2	-	0	683	c.683G>A	c.(682-684)cGt>cAt	p.R228H		NM_001005164	NP_001005164	Q8NGJ4	O52E2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 2 (OR52E2), mRNA.	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTAGGAAGACGGAAAACAGC	0.398													T	5080175	C	T	5080175	3	4	251	1	0	0	0	0	1	0	0	0	11191	536	19	1	297	1	OR52E2	11	5080175	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		5080175	129926341	31	17581											
OR5W2	390148	broad.mit.edu	37	chr11	55681607	55681607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagcatctgctattcccAccagataaaccccagtcaag	14	8	5	14	0	3	1	2	0	1	1	4	1	4	1	4	0	3	2	4	0	5	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:55681607A>G	uc010rir.2	-	0	452	c.452T>C	c.(451-453)gTg>gCg	p.V151A		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	151					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCTATTCCCACCAGATAAAC	0.458													G	55681607	A	G	55681607	3	3	251	1	0	0	0	0	1	0	0	0	11261	159	6	3	482	3	OR5W2	11	55681607	Missense_Mutation	SNP	A	TCGA-41-6646-01A-11D-1845-08	50601432	55681607	79324909	32	17582											
GLYATL1	92292	broad.mit.edu	37	chr11	58722269	58722269	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgatgacatggattcataCacaaacgtatatcgtatgtt	14	13	7	7	2	1	2	1	2	0	0	2	3	1	3	0	1	2	3	0	1	5	6			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:58722269C>A	uc001nnh.2	+	4	356	c.306C>A	c.(304-306)taC>taA	p.Y102*	GLYATL1_uc001nnf.3_Nonsense_Mutation_p.Y71*|LOC283194_uc001nng.1_Intron|GLYATL1_uc001nni.2_Nonsense_Mutation_p.Y71*|GLYATL1_uc001nnj.2_Nonsense_Mutation_p.Y71*	NM_080661	NP_542392	Q969I3	GLYL1_HUMAN	Homo sapiens glycine-N-acyltransferase-like 1 (GLYATL1), transcript variant 1, mRNA.	71						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	TGGATTCATACACAAACGTAT	0.373													A	58722269	C	A	58722269	4	1	251	1	0	0	0	0	0	1	0	0	6536	489	17	4	324	4	GLYATL1	11	58722269	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	3040662	58722269	76284247	33	17583											
NPAS4	266743	broad.mit.edu	37	chr11	66192332	66192332	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgaggctggcactggCggactagagccacttggagg	8	7	16	10	1	1	2	1	1	0	1	1	4	1	4	1	6	2	3	1	6	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:66192332C>T	uc001ohx.1	+	6	2147	c.1971C>T	c.(1969-1971)ggC>ggT	p.G657G	NPAS4_uc010rpc.1_Silent_p.G447G	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	657					transcription, DNA-dependent		DNA binding|signal transducer activity	p.G657G(2)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						CTGGCACTGGCGGACTAGAGC	0.582													T	66192332	C	T	66192332	2	4	251	1	0	0	0	0	0	0	0	1	10641	755	27	1		1	NPAS4	11	66192332	Silent	SNP	C	TCGA-41-6646-01A-11D-1845-08	7470063	66192332	68814184	34	17584											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020926	73020926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttctgggggctggggcGtgtaccgctcccctagcttt	2	11	17	11	2	1	0	0	0	1	0	2	0	2	0	3	6	2	5	3	6	2	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr11:73020926G>A	uc001otu.3	+	0	1264	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M		NM_014786	NP_055601	Q96PE2	ARHGH_HUMAN	Homo sapiens Rho guanine nucleotide exchange factor (GEF) 17 (ARHGEF17), mRNA.	415					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGGCTGGGGCGTGTACCGCTC	0.657													A	73020926	G	A	73020926	3	1	251	1	0	0	0	0	1	0	0	0	903	1145	40	1	1245	1	ARHGEF17	11	73020926	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	6828594	73020926	61985590	35	17585											
RECQL	5965	broad.mit.edu	37	chr12	21643134	21643134	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttttttagtacataccAtctgaacataatgctggtaa	14	16	5	6	0	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	7	9			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:21643134A>G	uc001rex.3	-	5	742	c.394_splice	c.e5+1	p.G132_splice	RECQL_uc001rey.3_Splice_Site_p.G132_splice	NM_032941	NP_116559	P46063	RECQ1_HUMAN	Homo sapiens RecQ protein-like (DNA helicase Q1-like) (RECQL), transcript variant 2, mRNA.	132	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						AGTACATACCATCTGAACATA	0.289								Other identified genes with known or suspected DNA repair function					G	21643134	A	G	21643134	2	3	251	1	0	0	0	0	0	0	0	1	13289	231	8	3		3	RECQL	12	21643134	Silent	SNP	A	TCGA-41-6646-01A-11D-1845-08		21643134	112208761	36	17586											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123661241	123661241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaataacttacttggcaCgcgagggtctcacgtgaatt	12	11	10	8	3	1	2	1	2	1	0	2	3	1	2	0	2	2	1	0	2	4	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr12:123661241C>T	uc001uel.3	-	11	2102	c.1994G>A	c.(1993-1995)cGt>cAt	p.R665H	MPHOSPH9_uc010tal.2_Missense_Mutation_p.R119H|MPHOSPH9_uc010tam.2_Non-coding_Transcript|MPHOSPH9_uc001uem.3_Missense_Mutation_p.R119H	NM_022782	NP_073619	Q99550	MPP9_HUMAN	Homo sapiens M-phase phosphoprotein 9 (MPHOSPH9), mRNA.	665					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TTACTTGGCACGCGAGGGTCT	0.353													T	123661241	C	T	123661241	3	4	251	1	0	0	0	0	1	0	0	0	9804	536	19	1	1137	1	MPHOSPH9	12	123661241	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	102018107	123661241	10190654	37	17587											
UGGT2	55757	broad.mit.edu	37	chr13	96578002	96578002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatctgcaataatccagaGagtgactgcagaaattatac	18	9	7	7	0	1	3	0	1	1	2	2	4	2	3	1	0	3	2	1	0	7	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr13:96578002G>A	uc001vmt.3	-	19	2397	c.2227C>T	c.(2227-2229)Ctc>Ttc	p.L743F		NM_020121	NP_064506	Q9NYU1	UGGG2_HUMAN	Homo sapiens UDP-glucose glycoprotein glucosyltransferase 2 (UGGT2), mRNA.	743					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						ATAATCCAGAGAGTGACTGCA	0.308													A	96578002	G	A	96578002	3	1	251	1	0	0	0	0	1	0	0	0	17044	942	33	2	2403	2	UGGT2	13	96578002	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		96578002	18591876	38	17588											
SLC38A6	145389	broad.mit.edu	37	chr14	61518523	61518525	+	In_Frame_Del	DEL	ATG	ATG	-																															aggccagaaaagctgtaacaAtgatgtttttctccaatttt																										TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:61518523_61518525delATG	uc001xfh.2	+	13	1233_1235	c.1069_1071delATG	c.(1069-1071)atgdel	p.M358del	SLC38A6_uc001xfg.2_In_Frame_Del_p.M358del|SLC38A6_uc001xfi.3_Non-coding_Transcript|SLC38A6_uc001xfj.1_Non-coding_Transcript|SLC38A6_uc001xfk.3_Non-coding_Transcript|SLC38A6_uc010trz.2_In_Frame_Del_p.M335del	NM_001172702	NP_001166173	Q8IZM9	S38A6_HUMAN	Homo sapiens solute carrier family 38, member 6 (SLC38A6), transcript variant 1, mRNA.	358					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AGCTGTAACAATGATGTTTTTCT	0.34													-	61518525	ATG	-	61518523	7	5	251	1	0	1	0	1	0	0	0	0	14702	101	4	0	1123	0	SLC38A6	14	61518523	In_Frame_Del	DEL	ATG	TCGA-41-6646-01A-11D-1845-08		61518523	45831017	39	17589											
SERPINA11	256394	broad.mit.edu	37	chr14	94912695	94912695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggagcaattggccccattttCtcagggtctgtggctgcaga	7	11	13	10	0	2	1	1	0	2	1	3	2	2	2	2	4	2	3	2	4	1	3	rs148183767		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr14:94912695C>G	uc001ydd.1	-	2	950	c.890G>C	c.(889-891)aGa>aCa	p.R297T		NM_001080451	NP_001073920	Q86U17	SPA11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11 (SERPINA11), mRNA.	297					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.D296G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCCCCATTTTCTCAGGGTCTG	0.562													G	94912695	C	G	94912695	3	3	251	1	0	0	0	0	1	0	0	0	14181	913	32	4	390	4	SERPINA11	14	94912695	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	33394172	94912695	12436845	40	17590											
TRPM1	4308	broad.mit.edu	37	chr15	31360288	31360288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtgtcataggatacaCggatatactgtgaaagagtg	12	11	13	5	1	1	2	1	1	0	1	1	4	1	4	0	3	2	1	0	3	5	5			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr15:31360288C>T	uc021sia.1	-	3	652	c.338G>A	c.(337-339)cGt>cAt	p.R113H	TRPM1_uc010azy.3_5'UTR|TRPM1_uc001zfl.3_Non-coding_Transcript|TRPM1_uc021shz.1_Missense_Mutation_p.R96H|TRPM1_uc001zfm.3_Missense_Mutation_p.R74H|MIR211_uc010ubm.1_5'Flank|TRPM1_uc010ubn.1_5'Flank	NM_001252020	NP_001238949	Q7Z4N2	TRPM1_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 1 (TRPM1), transcript variant 1, mRNA.	74					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		ATAGGATACACGGATATACTG	0.493													T	31360288	C	T	31360288	3	4	251	1	0	0	0	0	1	0	0	0	16686	536	19	1	4686	1	TRPM1	15	31360288	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		31360288	71171104	41	17591											
COX10	1352	broad.mit.edu	37	chr17	14110443	14110443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggagactgttcttctgcagCctgtggcacctgccgctgct	4	11	12	14	2	2	1	0	0	2	1	2	2	2	1	3	2	4	5	3	2	0	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:14110443C>A	uc002gof.4	+	6	1449	c.1245C>A	c.(1243-1245)agC>agA	p.S415R	COX10_uc010vvs.2_Missense_Mutation_p.S198R|COX10_uc010vvt.2_Missense_Mutation_p.S223R	NM_001303	NP_001294	Q12887	COX10_HUMAN	Homo sapiens COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast) (COX10), nuclear gene encoding mitochondrial protein, mRNA.	415					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TCTTCTGCAGCCTGTGGCACC	0.657													A	14110443	C	A	14110443	3	1	251	1	0	0	0	0	1	0	0	0	3793	738	26	4	1271	4	COX10	17	14110443	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		14110443	67084767	42	17592											
NF1	4763	broad.mit.edu	37	chr17	29654691	29654691	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctcaccttcatgcacCaggagtgtgaagccattgtc	8	9	10	14	2	2	1	2	1	0	0	3	2	2	2	4	1	2	2	4	1	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr17:29654691C>T	uc002hgg.3	+	37	5826	c.5443C>T	c.(5443-5445)Cag>Tag	p.Q1815*	NF1_uc002hgh.3_Nonsense_Mutation_p.Q1794*|NF1_uc002hgi.1_Nonsense_Mutation_p.Q827*|NF1_uc010cso.3_Nonsense_Mutation_p.Q3*	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1815					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.Q1815*(2)|p.H1814fs*43(2)|p.Q1815L(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTTCATGCACCAGGAGTGTGA	0.493			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29654691	C	T	29654691	4	4	251	1	0	0	0	0	0	1	0	0	10432	595	21	2	5654	2	NF1	17	29654691	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08	15544248	29654691	51540519	43	17593											
ABHD3	171586	broad.mit.edu	37	chr18	19283692	19283692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctgaaactctcacccccgGtcactaactggggtttctga	8	10	10	13	1	3	2	2	2	2	0	4	2	3	2	2	4	2	2	2	4	2	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr18:19283692G>A	uc002ktl.2	-	1	319	c.179C>T	c.(178-180)aCc>aTc	p.T60I	ABHD3_uc010xao.1_Intron|MIB1_uc002ktp.3_5'Flank	NM_138340	NP_612213	Q8WU67	ABHD3_HUMAN	Homo sapiens abhydrolase domain containing 3 (ABHD3), mRNA.	60						integral to membrane	carboxylesterase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(2)	10						CTCACCCCCGGTCACTAACTG	0.547													A	19283692	G	A	19283692	3	1	251	1	0	0	0	0	1	0	0	0	83	1261	44	2	1082	2	ABHD3	18	19283692	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		19283692	58793556	44	17594											
PIK3R2	5296	broad.mit.edu	37	chr19	18280055	18280055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctcaccgtcaccctggCgcacccagtgcgcgccccgg	4	4	12	21	7	2	0	2	0	0	0	2	0	2	0	5	2	1	2	5	2	0	0			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:18280055C>T	uc002nia.1	+	15	2650	c.2138C>T	c.(2137-2139)gCg>gTg	p.A713V	PIK3R2_uc002nib.1_Non-coding_Transcript|PIK3R2_uc010ebi.1_Non-coding_Transcript	NM_005027	NP_005018	O00459	P85B_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 2 (beta) (PIK3R2), mRNA.	713	SH2 2.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						GTCACCCTGGCGCACCCAGTg	0.751													T	18280055	C	T	18280055	3	4	251	1	0	0	0	0	1	0	0	0	11996	768	27	1	2196	1	PIK3R2	19	18280055	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		18280055	40848928	45	17595											
DHX34	9704	broad.mit.edu	37	chr19	47876058	47876058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgcagccgcacttagcGtccagtcgcccttcacccgc	6	7	8	20	5	1	0	1	0	0	0	4	0	2	0	5	0	2	2	5	0	1	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:47876058G>A	uc010xyn.2	+	7	2189	c.1840G>A	c.(1840-1842)Gtc>Atc	p.V614I	DHX34_uc010elc.1_Missense_Mutation_p.V529I	NM_014681	NP_055496	Q14147	DHX34_HUMAN	Homo sapiens DEAH (Asp-Glu-Ala-His) box polypeptide 34 (DHX34), mRNA.	614						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CGCACTTAGCGTCCAGTCGCC	0.672													A	47876058	G	A	47876058	3	1	251	1	0	0	0	0	1	0	0	0	4546	1145	40	1	1866	1	DHX34	19	47876058	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	29596003	47876058	11252925	46	17596											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004890	52004890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggccctcctgcaccGtcacggacttctgcattgtc	7	9	8	17	2	2	0	1	0	1	0	4	1	3	1	3	2	2	2	3	2	0	2	rs141817270		TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:52004890G>A	uc002pwx.1	-	0	154	c.98C>T	c.(97-99)aCg>aTg	p.T33M	SIGLEC12_uc002pww.1_5'Flank|SIGLEC12_uc010eoy.1_5'UTR	NM_053003	NP_443729	Q96PQ1	SIG12_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 12 (gene/pseudogene) (SIGLEC12), transcript variant 1, mRNA.	33	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CTCCTGCACCGTCACGGACTT	0.577													A	52004890	G	A	52004890	3	1	251	1	0	0	0	0	1	0	0	0	14402	1145	40	1	1794	1	SIGLEC12	19	52004890	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	4128832	52004890	7124093	47	17597											
ZNF761	388561	broad.mit.edu	37	chr19	53958627	53958627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcccttacatgccatcGtagacttcatactggagaga	11	11	8	11	1	2	2	2	0	0	2	4	4	3	3	2	1	3	1	2	1	3	4			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:53958627G>A	uc010eqp.3	+	6	1324	c.866G>A	c.(865-867)cGt>cAt	p.R289H	ZNF761_uc010ydy.2_Missense_Mutation_p.R235H|ZNF761_uc002qbt.2_Missense_Mutation_p.R235H	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	289					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		ACATGCCATCGTAGACTTCAT	0.398													A	53958627	G	A	53958627	3	1	251	1	0	0	0	0	1	0	0	0	18236	1145	40	1	877	1	ZNF761	19	53958627	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1953737	53958627	5170356	48	17598											
EPS8L1	54869	broad.mit.edu	37	chr19	55597484	55597484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggacccagcggggcaggaggGatatgtgccctacaacatcc	10	5	14	12	1	0	0	0	0	0	0	1	3	1	3	3	5	4	1	3	5	3	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr19:55597484G>A	uc002qis.4	+	15	1678	c.1574G>A	c.(1573-1575)gGa>gAa	p.G525E	EPS8L1_uc010ess.1_Missense_Mutation_p.G539E|EPS8L1_uc010yfr.2_Missense_Mutation_p.G461E|EPS8L1_uc002qiu.3_Missense_Mutation_p.G398E|EPS8L1_uc002qiv.3_Missense_Mutation_p.G203E|EPS8L1_uc002qiw.3_Missense_Mutation_p.G304E	NM_133180	NP_573441	Q8TE68	ES8L1_HUMAN	Homo sapiens EPS8-like 1 (EPS8L1), transcript variant 1, mRNA.	525	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGCAGGAGGGATATGTGCCC	0.622													A	55597484	G	A	55597484	3	1	251	1	0	0	0	0	1	0	0	0	5236	1174	41	2	1684	2	EPS8L1	19	55597484	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	1638857	55597484	3531499	49	17599											
ZNF831	128611	broad.mit.edu	37	chr20	57767405	57767405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagcatcgacctgcccaCgccctacacctacaaggact	10	5	9	17	2	0	0	0	0	0	0	1	2	0	1	4	2	4	2	4	2	3	2			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr20:57767405C>T	uc002yan.3	+	0	1331	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	444						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GACCTGCCCACGCCCTACACC	0.682													T	57767405	C	T	57767405	3	4	251	1	0	0	0	0	1	0	0	0	18284	536	19	1	1333	1	ZNF831	20	57767405	Missense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		57767405	5258115	50	17600											
TMPRSS15	5651	broad.mit.edu	37	chr21	19687506	19687506	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacagtgcagatgaccGtcacagagattcaccagtgg	11	8	10	12	1	3	3	3	1	0	2	4	4	4	3	3	1	1	1	3	1	0	1	rs148711749	byFrequency	TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr21:19687506G>A	uc002ykw.3	-	16	2020	c.1989C>T	c.(1987-1989)gaC>gaT	p.D663D		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	663	LDL-receptor class A 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.D663D(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGATGACCGTCACAGAGAT	0.398													A	19687506	G	A	19687506	2	1	251	1	0	0	0	0	0	0	0	1	16346	1136	40	1		1	TMPRSS15	21	19687506	Silent	SNP	G	TCGA-41-6646-01A-11D-1845-08		19687506	28442389	51	17601											
SLC5A1	6523	broad.mit.edu	37	chr22	32445981	32445981	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttcttcctggcaggcCgaagtatggtgtggtggccg	5	10	17	9	2	1	0	0	0	1	0	2	2	2	0	3	6	0	3	3	6	2	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:32445981C>T	uc003amc.3	+	1	437	c.187C>T	c.(187-189)Cga>Tga	p.R63*		NM_000343	NP_000334	P13866	SC5A1_HUMAN	Homo sapiens solute carrier family 5 (sodium/glucose cotransporter), member 1 (SLC5A1), transcript variant 1, mRNA.	63					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						CCTGGCAGGCCGAAGTATGGT	0.448													T	32445981	C	T	32445981	4	4	251	1	0	0	0	0	0	1	0	0	14755	644	23	1	193	1	SLC5A1	22	32445981	Nonsense_Mutation	SNP	C	TCGA-41-6646-01A-11D-1845-08		32445981	18858585	52	17602											
CARD10	29775	broad.mit.edu	37	chr22	37906263	37906263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagtgacgccgtcagccGctggttctcagcacgcagct	6	7	12	16	5	2	1	2	1	1	0	3	1	2	1	3	1	3	6	3	1	0	1			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chr22:37906263G>A	uc003asx.1	-	3	882	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	CARD10_uc003ast.1_Non-coding_Transcript|CARD10_uc003asw.1_5'Flank|CARD10_uc003asy.1_Missense_Mutation_p.R289W	NM_014550	NP_055365	Q9BWT7	CAR10_HUMAN	Homo sapiens caspase recruitment domain family, member 10 (CARD10), mRNA.	289			R -> Q (in dbSNP:rs9610775).		activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					GCCGTCAGCCGCTGGTTCTCA	0.662													A	37906263	G	A	37906263	3	1	251	1	0	0	0	0	1	0	0	0	2670	1086	38	1	2301	1	CARD10	22	37906263	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08	5460282	37906263	13398303	53	17603											
CXorf22	170063	broad.mit.edu	37	chrX	35985796	35985796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcaaagacttggcaaaacGcaagaattatgcacctgtag	15	8	10	8	1	1	2	1	0	0	2	1	2	1	2	1	2	2	4	1	2	7	3			TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:35985796G>A	uc004ddj.3	+	9	1727	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	CXorf22_uc010ngv.3_Non-coding_Transcript	NM_152632	NP_689845	Q6ZTR5	CX022_HUMAN	Homo sapiens chromosome X open reading frame 22 (CXorf22), mRNA.	554								p.R554R(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TTGGCAAAACGCAAGAATTAT	0.393													A	35985796	G	A	35985796	3	1	251	1	0	0	0	0	1	0	0	0	4135	1087	38	1	1699	1	CXorf22	23	35985796	Missense_Mutation	SNP	G	TCGA-41-6646-01A-11D-1845-08		35985796	119284764	54	17604											
PCDH19	57526	broad.mit.edu	37	chrX	99662130	99662131	+	Frame_Shift_Del	DEL	GA	GA	-																															gcgacggcacgatctggtagGagacactgccgttgagaccc																										TCGA-41-6646-01A-11D-1845-08	TCGA-41-6646-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6272bb0c-c47b-4cd2-9f59-398f1a75f020	2f6c3ea0-2797-4863-9a77-a6b67964b3a4	g.chrX:99662130_99662131delGA	uc010nmz.3	-	0	3141_3142	c.1465_1466delTC	c.(1465-1467)tccfs	p.S489fs	PCDH19_uc004efw.4_Frame_Shift_Del_p.S489fs|PCDH19_uc004efx.4_Frame_Shift_Del_p.S489fs	NM_001184880	NP_001171809	Q8TAB3	PCD19_HUMAN	Homo sapiens protocadherin 19 (PCDH19), transcript variant 3, mRNA.	489	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GATCTGGTAGGAGACACTGCCG	0.584													-	99662131	GA	-	99662130	7	5	251	1	0	1	0	1	0	0	0	0	11590	1174	41	0	2004	0	PCDH19	23	99662130	Frame_Shift_Del	DEL	GA	TCGA-41-6646-01A-11D-1845-08	63676334	99662130	55608430	55	17605											
CROCC	9696	broad.mit.edu	37	chr1	17281847	17281847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcgtctgctggaggatgCccgtgacgggctgcggcggg	3	7	20	11	5	1	1	0	1	1	0	1	3	1	3	1	5	4	3	1	5	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:17281847C>T	uc001azt.2	+	23	3575	c.3506C>T	c.(3505-3507)gCc>gTc	p.A1169V	CROCC_uc001azu.2_Missense_Mutation_p.A472V	NM_014675	NP_055490	Q5TZA2	CROCC_HUMAN	Homo sapiens ciliary rootlet coiled-coil, rootletin (CROCC), mRNA.	1169					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTGGAGGATGCCCGTGACGGG	0.711													T	17281847	C	T	17281847	3	4	252	1	0	0	0	0	1	0	0	0	3924	739	26	2	3600	2	CROCC	1	17281847	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		17281847	231968774	1	17606											
GLIS1	148979	broad.mit.edu	37	chr1	54060541	54060541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccagcgggccccgaCagtgggcagacagggatgtg	8	4	18	11	2	0	1	0	0	0	1	0	3	0	2	3	4	1	1	3	4	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:54060541C>A	uc001cvr.1	-	2	602	c.35G>T	c.(34-36)tGt>tTt	p.C12F		NM_147193	NP_671726	Q8NBF1	GLIS1_HUMAN	Homo sapiens GLIS family zinc finger 1 (GLIS1), mRNA.	12					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CGGGCCCCGACAGTGGGCAGA	0.657													A	54060541	C	A	54060541	3	1	252	1	0	0	0	0	1	0	0	0	6501	478	17	4	1859	4	GLIS1	1	54060541	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	36778694	54060541	195190080	2	17607											
RSBN1	54665	broad.mit.edu	37	chr1	114354435	114354435	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgggatcaccatcGgggccgcggtggtgatggtg	6	7	19	9	3	1	1	1	1	0	0	2	3	1	3	2	7	1	1	2	7	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:114354435G>C	uc001edq.3	-	0	636	c.600C>G	c.(598-600)ccC>ccG	p.P200P	RSBN1_uc001edr.3_Non-coding_Transcript	NM_018364	NP_060834	Q5VWQ0	RSBN1_HUMAN	Homo sapiens round spermatid basic protein 1 (RSBN1), mRNA.	200						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GATCACCATCGGGGCCGCGGT	0.637													C	114354435	G	C	114354435	2	2	252	1	0	0	0	0	0	0	0	1	13787	1103	39	4		4	RSBN1	1	114354435	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	60293894	114354435	134896186	3	17608											
F5	2153	broad.mit.edu	37	chr1	169510453	169510453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttctggagagaggtttGtctggctgaagtctagagaa	10	12	15	4	0	3	4	0	2	3	2	3	7	3	5	0	3	0	3	0	3	3	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:169510453G>A	uc001ggg.1	-	12	4020	c.3875C>T	c.(3874-3876)aCa>aTa	p.T1292I		NM_000130	NP_000121	P12259	FA5_HUMAN	Homo sapiens coagulation factor V (proaccelerin, labile factor) (F5), mRNA.	1292	35 X 9 AA approximate tandem repeats of [TNP]-L-S-P-D-L-S-Q-T.|B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGAGAGGTTTGTCTGGCTGAA	0.522													A	169510453	G	A	169510453	3	1	252	1	0	0	0	0	1	0	0	0	5390	1377	48	2	2851	2	F5	1	169510453	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	55156018	169510453	79740168	4	17609											
OR2T10	127069	broad.mit.edu	37	chr1	248756796	248756796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacacccaaggaccgagaTggtcttgtctttggccagct	8	9	11	13	1	2	1	0	0	2	1	2	3	2	2	4	3	1	1	4	3	1	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr1:248756796T>C	uc010pzn.2	-	0	274	c.274A>G	c.(274-276)Atc>Gtc	p.I92V		NM_001004693	NP_001004693	Q8NGZ9	O2T10_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 10 (OR2T10), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCGAGATGGTCTTGTCT	0.507													C	248756796	T	C	248756796	3	2	252	1	0	0	0	0	1	0	0	0	11093	1464	51	3	667	3	OR2T10	1	248756796	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	79246343	248756796	493825	5	17610											
LRP2	4036	broad.mit.edu	37	chr2	170163790	170163790	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggactaaaacagactcaCggcagtcattctcatcagct	14	8	7	12	1	4	1	4	0	1	1	5	2	4	2	0	2	2	2	0	2	3	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:170163790C>T	uc002ues.3	-	4	640	c.427_splice	c.e4+1	p.Q143_splice	LRP2_uc010zdf.1_Splice_Site_p.Q143_splice	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	143	LDL-receptor class A 3.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AACAGACTCACGGCAGTCATT	0.438													T	170163790	C	T	170163790	5	4	252	1	0	0	0	0	0	0	1	0	9026	550	19	1	13843	1	LRP2	2	170163790	Splice_Site	SNP	C	TCGA-74-6573-01A-12D-1845-08		170163790	73035583	6	17611											
ICA1L	130026	broad.mit.edu	37	chr2	203650727	203650727	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattcctcttgggagaccCagtctgggataaaagaagta	12	10	11	8	0	2	3	0	1	2	2	3	5	3	4	2	2	0	1	2	2	4	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr2:203650727C>G	uc002uzh.1	-	12	1411	c.1247G>C	c.(1246-1248)tGg>tCg	p.W416S	ICA1L_uc002uzi.1_Missense_Mutation_p.W416S|ICA1L_uc021vvi.1_Non-coding_Transcript	NM_138468	NP_612477	Q8NDH6	ICA1L_HUMAN	Homo sapiens islet cell autoantigen 1,69kDa-like (ICA1L), transcript variant 1, mRNA.	416										breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGGGAGACCCAGTCTGGGAT	0.358													G	203650727	C	G	203650727	3	3	252	1	0	0	0	0	1	0	0	0	7536	595	21	4	209	4	ICA1L	2	203650727	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	33486937	203650727	39548646	7	17612											
DOCK3	1795	broad.mit.edu	37	chr3	51315131	51315131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcatgagcaaatcgcaCgctcaggaggcggtaagagg	13	5	13	10	3	2	2	2	1	0	1	3	3	2	3	1	4	1	4	1	4	2	1			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:51315131C>T	uc011bds.2	+	25	2792	c.2769C>T	c.(2767-2769)caC>caT	p.H923H		NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN	Homo sapiens dedicator of cytokinesis 3 (DOCK3), mRNA.	923						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		GCAAATCGCACGCTCAGGAGG	0.552													T	51315131	C	T	51315131	2	4	252	1	0	0	0	0	0	0	0	1	4727	535	19	1		1	DOCK3	3	51315131	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		51315131	146707299	8	17613											
FHIT	2272	broad.mit.edu	37	chr3	59999845	59999845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggacgcaggtcatggaagCgctccactggccgcagcggg	8	4	16	13	4	1	0	1	0	0	0	2	2	2	2	2	5	2	3	2	5	1	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:59999845C>T	uc003dkx.4	-	5	508	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FHIT_uc003dky.3_Missense_Mutation_p.R46H|FHIT_uc010hnn.1_Missense_Mutation_p.R46H	NM_002012	NP_002003	P49789	FHIT_HUMAN	Homo sapiens fragile histidine triad gene (FHIT), transcript variant 1, mRNA.	46	HIT.				nucleotide metabolic process		bis(5'-adenosyl)-triphosphatase activity|protein binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)	12		all_cancers(2;2.37e-314)|all_epithelial(2;5.17e-286)|Colorectal(2;1.24e-68)|all_lung(2;1.31e-45)|Lung NSC(2;1.79e-44)|all_hematologic(2;1.59e-23)|Renal(2;1.03e-13)|Breast(2;1.06e-10)|Esophageal squamous(2;6.31e-09)|Melanoma(2;1.83e-07)|Acute lymphoblastic leukemia(2;5.46e-05)|all_neural(2;0.00118)|Medulloblastoma(2;0.00263)|Hepatocellular(2;0.0245)|Ovarian(2;0.0408)		UCEC - Uterine corpus endometrioid carcinoma (45;0.0887)|Epithelial(1;9.28e-70)|all cancers(1;3.07e-60)|Colorectal(1;2.33e-53)|STAD - Stomach adenocarcinoma(1;7.22e-48)|COAD - Colon adenocarcinoma(3;1.05e-44)|READ - Rectum adenocarcinoma(3;2.41e-08)|KIRC - Kidney renal clear cell carcinoma(10;0.000109)|Kidney(10;0.000125)|Lung(1;0.000161)|LUSC - Lung squamous cell carcinoma(1;0.000742)|OV - Ovarian serous cystadenocarcinoma(275;0.00372)|BRCA - Breast invasive adenocarcinoma(55;0.00448)		GTCATGGAAGCGCTCCACTGG	0.542			T	HMGA2	pleomorphic salivary gland adenoma				Renal Cell Cancer associated with constitutional translocation of chromosome 3				T	59999845	C	T	59999845	3	4	252	1	0	0	0	0	1	0	0	0	5926	768	27	1	322	1	FHIT	3	59999845	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	8684714	59999845	138022585	9	17614											
ZBED2	79413	broad.mit.edu	37	chr3	111312907	111312907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgggtgcccttgttgtGgggcattggagtgggcatag	6	10	18	7	1	0	0	0	0	0	0	0	2	0	1	2	5	2	3	2	5	2	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:111312907G>A	uc003dxy.3	-	1	1043	c.142C>T	c.(142-144)Cac>Tac	p.H48Y	CD96_uc003dxv.3_Intron|CD96_uc003dxw.3_Intron|CD96_uc003dxx.3_Intron|CD96_uc010hpy.1_Intron|ZBED2_uc021xci.1_Missense_Mutation_p.H48Y	NM_024508	NP_078784	Q9BTP6	ZBED2_HUMAN	Homo sapiens zinc finger, BED-type containing 2 (ZBED2), mRNA.	48							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCTTGTTGTGGGGCATTGGA	0.552													A	111312907	G	A	111312907	3	1	252	1	0	0	0	0	1	0	0	0	17620	1348	47	2	518	2	ZBED2	3	111312907	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	51313062	111312907	86709523	10	17615											
C3orf15	89876	broad.mit.edu	37	chr3	119462849	119462849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttgaaaaccatttggccGgactggaaggaagggcacta	12	8	14	7	1	0	1	0	1	0	0	0	4	0	4	2	6	1	2	2	6	5	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:119462849G>A	uc003ede.4	+	13	1785	c.1708G>A	c.(1708-1710)Gga>Aga	p.G570R	C3orf15_uc010hqz.3_Missense_Mutation_p.G508R|C3orf15_uc011bjd.2_Missense_Mutation_p.G444R|C3orf15_uc011bje.2_Missense_Mutation_p.G550R	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	406						mitochondrion	protein binding	p.G570*(2)		NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		CCATTTGGCCGGACTGGAAGG	0.453													A	119462849	G	A	119462849	3	1	252	1	0	0	0	0	1	0	0	0	2230	1117	39	1	1762	1	C3orf15	3	119462849	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	8149942	119462849	78559581	11	17616											
MECOM	2122	broad.mit.edu	37	chr3	168833248	168833248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggtcttgattcgacGttgcttcctttttttccccc	5	16	8	12	2	1	1	0	1	1	0	4	3	3	1	3	1	2	3	3	1	1	7	rs140021434		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr3:168833248G>A	uc011bpj.1	-	7	2815	c.2412C>T	c.(2410-2412)aaC>aaT	p.N804N	MECOM_uc010hwk.1_Silent_p.N639N|MECOM_uc003ffj.3_Silent_p.N681N|MECOM_uc003ffi.3_Silent_p.N616N|MECOM_uc011bpi.1_Silent_p.N617N|MECOM_uc003ffn.3_Silent_p.N616N|MECOM_uc003ffk.2_Silent_p.N616N|MECOM_uc003ffl.2_Silent_p.N776N|MECOM_uc011bpk.1_Silent_p.N616N|MECOM_uc010hwn.2_Silent_p.N804N	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	25							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TTGATTCGACGTTGCTTCCTT	0.488													A	168833248	G	A	168833248	2	1	252	1	0	0	0	0	0	0	0	1	9497	1136	40	1		1	MECOM	3	168833248	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	49370399	168833248	29189182	12	17617											
JAKMIP1	152789	broad.mit.edu	37	chr4	6062187	6062187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaacttctccaaatcttcGattttggcctgacacctcag	10	13	6	12	1	3	1	1	1	2	0	5	2	3	1	3	1	1	1	3	1	2	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:6062187G>A	uc010idb.1	-	10	2094	c.1608C>T	c.(1606-1608)atC>atT	p.I536I	JAKMIP1_uc010idc.1_Silent_p.I351I|JAKMIP1_uc010idd.1_Intron|JAKMIP1_uc003giu.4_Silent_p.I536I|JAKMIP1_uc011bwc.2_Silent_p.I371I|JAKMIP1_uc003giv.4_Silent_p.I536I|JAKMIP1_uc010ide.3_Silent_p.I536I	NM_001099433	NP_001092903	Q96N16	JKIP1_HUMAN	Homo sapiens janus kinase and microtubule interacting protein 1 (JAKMIP1), transcript variant 1, mRNA.	536	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCAAATCTTCGATTTTGGCCT	0.532													A	6062187	G	A	6062187	2	1	252	1	0	0	0	0	0	0	0	1	7998	1048	37	1		1	JAKMIP1	4	6062187	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08		6062187	185092089	13	17618											
ABLIM2	84448	broad.mit.edu	37	chr4	8089918	8089918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaggccctgggacaggtgCgcgctgctgcccaccgatac	6	5	15	15	4	0	0	0	0	0	0	0	3	0	2	3	4	4	2	3	4	1	1			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:8089918C>T	uc003gko.3	-	3	575	c.432G>A	c.(430-432)gcG>gcA	p.A144A	ABLIM2_uc003gkm.4_Silent_p.A144A|ABLIM2_uc003gkp.3_Silent_p.A144A|ABLIM2_uc003gkq.3_Silent_p.A144A|ABLIM2_uc003gkr.3_Silent_p.A144A|ABLIM2_uc003gkj.4_Silent_p.A144A|ABLIM2_uc003gks.3_Silent_p.A144A|ABLIM2_uc011bwl.1_Silent_p.A149A	NM_001130084	NP_001123556	Q6H8Q1	ABLM2_HUMAN	Homo sapiens actin binding LIM protein family, member 2 (ABLIM2), transcript variant 2, mRNA.	144					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						GGGACAGGTGCGCGCTGCTGC	0.632													T	8089918	C	T	8089918	2	4	252	1	0	0	0	0	0	0	0	1	95	755	27	1		1	ABLIM2	4	8089918	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	2027731	8089918	183064358	14	17619											
SORBS2	8470	broad.mit.edu	37	chr4	186545046	186545046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcgaattcggagatgcGtgtgggcaccatgtcccggg	6	11	14	10	4	0	1	0	0	0	1	3	3	1	1	2	3	1	1	2	3	1	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr4:186545046G>A	uc003iyg.3	-	12	1899	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	SORBS2_uc003iyh.3_Intron|SORBS2_uc011ckw.2_Intron|SORBS2_uc003iyi.3_Intron|SORBS2_uc011ckx.2_Intron|SORBS2_uc003iyk.3_Intron|SORBS2_uc003iym.3_Missense_Mutation_p.R609C|SORBS2_uc003iyl.3_Missense_Mutation_p.R509C|SORBS2_uc003iyn.1_Intron|SORBS2_uc011cku.2_Intron|SORBS2_uc011ckv.2_Missense_Mutation_p.R413C|SORBS2_uc003iyd.3_Intron|SORBS2_uc003iye.3_Intron|SORBS2_uc003iya.3_Intron|SORBS2_uc003iyb.3_Intron|SORBS2_uc003iyc.3_Intron|SORBS2_uc003iyf.3_Intron|SORBS2_uc003iyo.1_Intron	NM_021069	NP_066547	O94875	SRBS2_HUMAN	Homo sapiens sorbin and SH3 domain containing 2 (SORBS2), transcript variant 2, mRNA.	509						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.D623Y(1)		endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TCGGAGATGCGTGTGGGCACC	0.572													A	186545046	G	A	186545046	3	1	252	1	0	0	0	0	1	0	0	0	15022	1145	40	1	1813	1	SORBS2	4	186545046	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	178455128	186545046	4609230	15	17620											
PIK3R1	5295	broad.mit.edu	37	chr5	67589601	67589602	+	In_Frame_Ins	INS	-	-	GTT																															ttacatgaatataacactcaINSgtttcaagaaaaaagtcgag																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:67589601_67589602insGTT	uc003jva.3	+	10	1944_1945	c.1364_1365insGTT	c.(1363-1365)cag>caGTTg	p.455_456insL	PIK3R1_uc003jvc.3_In_Frame_Ins_p.155_156insL|PIK3R1_uc003jvd.3_In_Frame_Ins_p.185_186insL|PIK3R1_uc003jve.3_In_Frame_Ins_p.134_135insL|PIK3R1_uc021xzn.1_In_Frame_Ins_p.92_93insL|PIK3R1_uc011crb.2_In_Frame_Ins_p.125_126insL	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	455					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(3)|p.F456_R461del(2)|p.D434_Q475del(2)|p.T454_D464del(2)|p.T454_Q455>Q(1)|p.T454I(1)|p.0?(1)|p.?(1)|p.Q455K(1)|p.453_454insN(1)|p.F456_R461>S(1)|p.Y452_Q455>SGGSRIK(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATAACACTCAGTTTCAAGAAA	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			GTT	67589602	-	GTT	67589601	7	5	252	1	0	1	1	0	0	0	0	0	11995	188	7	0	1532	0	PIK3R1	5	67589601	In_Frame_Ins	INS	-	TCGA-74-6573-01A-12D-1845-08		67589601	113325659	16	17621											
TMEM174	134288	broad.mit.edu	37	chr5	72469563	72469563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctgtggtgagcccctgcGgcctcataacctctggaggg	6	9	14	12	1	3	1	1	1	2	0	3	2	3	2	4	4	3	0	4	4	1	1	rs138671212		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:72469563G>A	uc010izc.3	+	0	541	c.493G>A	c.(493-495)Ggc>Agc	p.G165S		NM_153217	NP_694949	Q8WUU8	TM174_HUMAN	Homo sapiens transmembrane protein 174 (TMEM174), mRNA.	165						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		GAGCCCCTGCGGCCTCATAAC	0.547													A	72469563	G	A	72469563	3	1	252	1	0	0	0	0	1	0	0	0	16190	1116	39	1	495	1	TMEM174	5	72469563	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	4879962	72469563	108445697	17	17622											
HTR4	3360	broad.mit.edu	37	chr5	147830788	147830788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attctgggtcattgtgtatgGgcagtttctcgagttcctga	6	16	12	7	1	3	1	1	1	2	0	5	2	4	1	1	2	0	4	1	2	1	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:147830788G>A	uc021yfh.1	-	5	1171	c.1124C>T	c.(1123-1125)cCc>cTc	p.P375L	HTR4_uc021yfg.1_3'UTR|HTR4_uc010jgu.1_Non-coding_Transcript	NM_001040169	NP_001035259	Q13639	5HT4R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 4 (HTR4), transcript variant a, mRNA.	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	ATTGTGTATGGGCAGTTTCTC	0.468													A	147830788	G	A	147830788	3	1	252	1	0	0	0	0	1	0	0	0	7507	1232	43	2	43	2	HTR4	5	147830788	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	75361225	147830788	33084472	18	17623											
PDGFRB	5159	broad.mit.edu	37	chr5	149501489	149501489	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtagttggaggactcGatgtctgcatatttgacgtc	8	13	12	8	2	1	1	0	1	1	0	3	4	1	3	1	2	1	3	1	2	2	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr5:149501489G>T	uc003lro.3	-	15	2767	c.2298C>A	c.(2296-2298)atC>atA	p.I766I	PDGFRB_uc010jhd.3_Silent_p.I605I	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	766	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGGAGGACTCGATGTCTGCAT	0.532			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								T	149501489	G	T	149501489	2	4	252	1	0	0	0	0	0	0	0	1	11738	1048	37	4		4	PDGFRB	5	149501489	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	1670701	149501489	31413771	19	17624											
KIF13A	63971	broad.mit.edu	37	chr6	17805708	17805708	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattttgtctcttttacctCaggaactttttccttccatt	7	20	3	11	0	2	0	1	0	1	0	5	1	4	1	3	1	2	0	3	1	2	8			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr6:17805708C>A	uc003ncg.4	-	18	2462	c.2302G>T	c.(2302-2304)Gag>Tag	p.E768*	KIF13A_uc003ncf.3_Nonsense_Mutation_p.E768*|KIF13A_uc003nch.4_Nonsense_Mutation_p.E768*|KIF13A_uc003nci.4_Nonsense_Mutation_p.E768*	NM_022113	NP_071396	Q9H1H9	KI13A_HUMAN	Homo sapiens kinesin family member 13A (KIF13A), transcript variant 1, mRNA.	768					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TCTTTTACCTCAGGAACTTTT	0.383													A	17805708	C	A	17805708	4	1	252	1	0	0	0	0	0	1	0	0	8332	835	29	4	3224	4	KIF13A	6	17805708	Nonsense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		17805708	153309359	20	17625											
MPP6	51678	broad.mit.edu	37	chr7	24727093	24727093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtggatgaaagtgcaCggattcagagagcatacaac	17	6	11	7	1	1	2	1	1	0	1	1	5	1	4	0	2	5	2	0	2	4	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:24727093C>T	uc003swx.3	+	12	1782	c.1483C>T	c.(1483-1485)Cgg>Tgg	p.R495W	MPP6_uc003swy.3_Missense_Mutation_p.R495W	NM_016447	NP_057531	Q9NZW5	MPP6_HUMAN	Homo sapiens membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6) (MPP6), mRNA.	495	Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TGAAAGTGCACGGATTCAGAG	0.348													T	24727093	C	T	24727093	3	4	252	1	0	0	0	0	1	0	0	0	9814	527	19	1	1525	1	MPP6	7	24727093	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		24727093	134411570	21	17626											
AOAH	313	broad.mit.edu	37	chr7	36571798	36571798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttggaagacatccagccGtggcaggggctgacctgaga	9	8	15	9	1	0	3	0	2	0	2	1	5	1	4	3	4	1	3	3	4	1	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:36571798G>A	uc022abu.1	-	17	1781	c.1380C>T	c.(1378-1380)caC>caT	p.H460H	AOAH_uc003tfh.4_Silent_p.H460H|AOAH_uc011kba.2_Silent_p.H428H	NM_001177506	NP_001170977	P28039	AOAH_HUMAN	Homo sapiens acyloxyacyl hydrolase (neutrophil) (AOAH), transcript variant 2, mRNA.	460					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity	p.H460H(4)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						ACATCCAGCCGTGGCAGGGGC	0.512													A	36571798	G	A	36571798	2	1	252	1	0	0	0	0	0	0	0	1	728	1136	40	1		1	AOAH	7	36571798	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	11844705	36571798	122566865	22	17627											
VSTM2A	222008	broad.mit.edu	37	chr7	54617588	54617588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttccaaagtgaggaaaaAggatgaaggcttatatgagt	16	10	12	3	0	0	3	0	3	0	0	1	6	1	5	1	3	0	1	1	3	6	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:54617588A>G	uc022adk.1	+	3	764	c.359A>G	c.(358-360)aAg>aGg	p.K120R	VSTM2A_uc010kzf.3_Missense_Mutation_p.K120R	NM_182546	NP_872352	Q8TAG5	VTM2A_HUMAN	Homo sapiens V-set and transmembrane domain containing 2A (VSTM2A), mRNA.	120	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GTGAGGAAAAAGGATGAAGGC	0.443													G	54617588	A	G	54617588	3	3	252	1	0	0	0	0	1	0	0	0	17331	72	3	3	373	3	VSTM2A	7	54617588	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08	18045790	54617588	104521075	23	17628											
CCT6A	908	broad.mit.edu	37	chr7	56127280	56127280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagccctgaattcttttgacGacctaagtcctgactgcttg	8	14	8	11	1	1	3	0	3	1	0	2	4	2	3	3	0	2	1	3	0	3	6			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56127280G>A	uc003trl.1	+	8	1176	c.1012G>A	c.(1012-1014)Gac>Aac	p.D338N	PSPH_uc003trj.3_Intron|CCT6A_uc003trm.1_Missense_Mutation_p.D293N|CCT6A_uc011kcu.1_Missense_Mutation_p.D307N|SNORA15_uc003trn.1_5'Flank	NM_001762	NP_001753	P40227	TCPZ_HUMAN	Homo sapiens chaperonin containing TCP1, subunit 6A (zeta 1) (CCT6A), transcript variant 1, mRNA.	338					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TTCTTTTGACGACCTAAGTCC	0.398													A	56127280	G	A	56127280	3	1	252	1	0	0	0	0	1	0	0	0	2987	1058	37	1	1046	1	CCT6A	7	56127280	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	1509692	56127280	103011383	24	17629											
SUMF2	25870	broad.mit.edu	37	chr7	56141892	56141892	+	Frame_Shift_Del	DEL	A	A	-																															actctggtggcttccagtggAaaaggcattttggaggcagg																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:56141892delA	uc011kcw.2	+	3	453	c.422delA	c.(421-423)gaafs	p.E141fs	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Frame_Shift_Del_p.E34fs|SUMF2_uc003trv.3_Frame_Shift_Del_p.E141fs|SUMF2_uc011kcy.2_Intron|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Intron|SUMF2_uc011kda.2_Intron|SUMF2_uc011kcx.2_Frame_Shift_Del_p.E141fs	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	122						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCCAGTGGAAAAGGCATTT	0.562											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	56141892	A	-	56141892	7	5	252	1	0	1	0	1	0	0	0	0	15482	246	9	0	436	0	SUMF2	7	56141892	Frame_Shift_Del	DEL	A	TCGA-74-6573-01A-12D-1845-08	14612	56141892	102996771	25	17630											
OCM2	4951	broad.mit.edu	37	chr7	97617753	97617753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttcatccagataccCgctctggtcgttgtctatga	6	15	7	13	2	5	2	1	1	4	1	7	2	6	2	2	1	1	2	2	1	2	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:97617753C>T	uc003upc.3	-	1	169	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_006188	NP_006179	P0CE71	OCM2_HUMAN	Homo sapiens oncomodulin 2 (OCM2), mRNA.	57	EF-hand 1.						calcium ion binding			lung(4)	4						TCCAGATACCCGCTCTGGTCG	0.537													T	97617753	C	T	97617753	3	4	252	1	0	0	0	0	1	0	0	0	10898	652	23	1	172	1	OCM2	7	97617753	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	41475861	97617753	61520910	26	17631											
GPC2	221914	broad.mit.edu	37	chr7	99773980	99773980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggggacagacccggaGgtgctcacctggacagagga	9	5	15	12	1	1	2	1	0	0	2	2	6	2	6	3	6	1	1	3	6	0	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99773980G>A	uc003utv.3	-	1	343	c.175C>T	c.(175-177)Ctc>Ttc	p.L59F	GPC2_uc010lgr.3_Non-coding_Transcript|GPC2_uc003utw.1_Missense_Mutation_p.L59F|STAG3_uc010lgs.1_5'Flank|STAG3_uc003utx.1_5'Flank|STAG3_uc011kjk.1_5'Flank	NM_152742	NP_689955	Q8N158	GPC2_HUMAN	Homo sapiens glypican 2 (GPC2), mRNA.	59						anchored to membrane|endoplasmic reticulum|extracellular space|plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(3)	18	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGACCCGGAGGTGCTCACCT	0.567													A	99773980	G	A	99773980	3	1	252	1	0	0	0	0	1	0	0	0	6652	1000	35	2	1600	2	GPC2	7	99773980	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	2156227	99773980	59364683	27	17632											
PILRB	29990	broad.mit.edu	37	chr7	99955938	99955938	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggccatgggtcggcccCtgctgctgcccctgctgctc	4	8	12	17	1	0	0	0	0	0	0	2	0	0	0	5	3	5	4	5	3	1	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:99955938C>T	uc022aim.1	+	5	1085	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	PILRB_uc003uum.1_Non-coding_Transcript|PILRB_uc003uun.3_Silent_p.L5L	NM_178238	NP_839956	Q9UKJ0	PILRB_HUMAN	Homo sapiens paired immunoglobin-like type 2 receptor beta (PILRB), transcript variant 3, mRNA.	5					activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGGTCGGCCCCTGCTGCTGCC	0.667													T	99955938	C	T	99955938	2	4	252	1	0	0	0	0	0	0	0	1	12003	680	24	2		2	PILRB	7	99955938	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	181958	99955938	59182725	28	17633											
WDR86	349136	broad.mit.edu	37	chr7	151097266	151097266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctcctgatggtgcagtcGgcgctgcatgtgaaggcagc	7	8	14	12	2	0	2	0	2	0	0	2	2	1	2	2	3	3	4	2	3	1	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr7:151097266G>A	uc011kvk.1	-	1	674	c.225C>T	c.(223-225)gcC>gcT	p.A75A	WDR86_uc003wka.2_Silent_p.A33A|WDR86_uc003wkb.2_Silent_p.A75A|WDR86_uc003wkc.2_5'UTR			Q86TI4	WDR86_HUMAN	Homo sapiens WD repeat domain 86 (WDR86), mRNA.	75										breast(1)|endometrium(2)|kidney(1)|lung(6)	10			OV - Ovarian serous cystadenocarcinoma(82;0.00419)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGTGCAGTCGGCGCTGCATG	0.607													A	151097266	G	A	151097266	2	1	252	1	0	0	0	0	0	0	0	1	17436	1103	39	1		1	WDR86	7	151097266	Silent	SNP	G	TCGA-74-6573-01A-12D-1845-08	51141328	151097266	8041397	29	17634											
PIWIL2	55124	broad.mit.edu	37	chr8	22211836	22211836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagggctgtggcattcctAcgcattatgtctgtgttctc	5	14	12	10	1	2	0	0	0	2	0	4	0	3	0	1	3	1	5	1	3	2	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:22211836A>G	uc003xbn.2	+	21	2858	c.2710A>G	c.(2710-2712)Acg>Gcg	p.T904A	PIWIL2_uc011kzf.1_Intron|PIWIL2_uc010ltv.2_Missense_Mutation_p.T904A|PIWIL2_uc003xbo.2_Missense_Mutation_p.T58A	NM_018068	NP_060538	Q8TC59	PIWL2_HUMAN	Homo sapiens piwi-like 2 (Drosophila) (PIWIL2), transcript variant 2, mRNA.	904	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		TGGCATTCCTACGCATTATGT	0.453													G	22211836	A	G	22211836	3	3	252	1	0	0	0	0	1	0	0	0	12035	391	14	3	2792	3	PIWIL2	8	22211836	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08		22211836	124152186	30	17635											
COL14A1	7373	broad.mit.edu	37	chr8	121160106	121160106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattttccagcgcaagatgCggtactggttgcttccacct	8	12	10	11	2	0	2	0	0	0	2	2	2	2	2	3	2	4	4	3	2	2	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr8:121160106C>T	uc003yox.3	+	1	290	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W		NM_021110	NP_066933	Q05707	COEA1_HUMAN	Homo sapiens collagen, type XIV, alpha 1 (COL14A1), mRNA.	9					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GCGCAAGATGCGGTACTGGTT	0.423													T	121160106	C	T	121160106	3	4	252	1	0	0	0	0	1	0	0	0	3702	759	27	1	27	1	COL14A1	8	121160106	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	98948270	121160106	25203916	31	17636											
PTPRD	5789	broad.mit.edu	37	chr9	8341178	8341178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacccttgtggattcatatgGcataatattaacaaggcgat	13	13	8	7	1	1	0	1	0	0	0	1	2	1	1	1	3	2	1	1	3	6	7			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341178G>C	uc003zkk.3	-	40	5781	c.5038C>G	c.(5038-5040)Cca>Gca	p.P1680A	PTPRD_uc003zkp.3_Missense_Mutation_p.P1274A|PTPRD_uc003zkq.3_Missense_Mutation_p.P1273A|PTPRD_uc003zkr.3_Missense_Mutation_p.P1264A|PTPRD_uc003zks.3_Missense_Mutation_p.P1273A|PTPRD_uc022bdj.1_Missense_Mutation_p.P1270A	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1680	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GATTCATATGGCATAATATTA	0.393										TSP Lung(15;0.13)			C	8341178	G	C	8341178	3	2	252	1	0	0	0	0	1	0	0	0	12887	1203	42	4	724	4	PTPRD	9	8341178	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		8341178	132872253	32	17637			1	39		2	2	26	G		4.441583e-05
PTPRD	5789	broad.mit.edu	37	chr9	8341203	8341203	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattaacaaggcgatttttGaatttattacatggaagatt	15	16	7	3	1	0	2	0	1	0	1	0	4	0	3	0	2	2	0	0	2	7	8			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:8341203G>C	uc003zkk.3	-	40	5756	c.5013C>G	c.(5011-5013)ttC>ttG	p.F1671L	PTPRD_uc003zkp.3_Missense_Mutation_p.F1265L|PTPRD_uc003zkq.3_Missense_Mutation_p.F1264L|PTPRD_uc003zkr.3_Missense_Mutation_p.F1255L|PTPRD_uc003zks.3_Missense_Mutation_p.F1264L|PTPRD_uc022bdj.1_Missense_Mutation_p.F1261L	NM_002839	NP_002830	P23468	PTPRD_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, D (PTPRD), transcript variant 1, mRNA.	1671	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GGCGATTTTTGAATTTATTAC	0.388										TSP Lung(15;0.13)			C	8341203	G	C	8341203	3	2	252	1	0	0	0	0	1	0	0	0	12887	1281	45	4	749	4	PTPRD	9	8341203	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	25	8341203	132872228	33	17638			1	39		2	2	26	G		4.441583e-05
TRAF1	7185	broad.mit.edu	37	chr9	123673632	123673632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggggagaagaggctgaCggtcctgccacaggccgact	9	5	15	12	2	0	3	0	1	0	2	1	5	1	3	4	5	1	1	4	5	1	0	rs149705933		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:123673632C>T	uc004bku.2	-	5	1437	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TRAF1_uc011lyg.2_Missense_Mutation_p.V167I|TRAF1_uc010mvl.2_Missense_Mutation_p.V289I	NM_005658	NP_001177876	Q13077	TRAF1_HUMAN	Homo sapiens TNF receptor-associated factor 1 (TRAF1), transcript variant 1, mRNA.	289	MATH.				apoptosis|positive regulation of NF-kappaB transcription factor activity|protein complex assembly|regulation of apoptosis|signal transduction	cytoplasm	protein binding|zinc ion binding	p.V289I(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(4)|pancreas(1)|skin(2)	22						AAGAGGCTGACGGTCCTGCCA	0.612													T	123673632	C	T	123673632	3	4	252	1	0	0	0	0	1	0	0	0	16538	536	19	1	397	1	TRAF1	9	123673632	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	115332429	123673632	17539799	34	17639											
SLC2A8	29988	broad.mit.edu	37	chr9	130165020	130165020	+	Frame_Shift_Del	DEL	C	C	-																															ggctgggaagacccccccatCggggctgagcaggtgagagg																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr9:130165020delC	uc004bqu.3	+	4	756	c.711delC	c.(709-711)atcfs	p.I237fs	SLC2A8_uc010mxj.3_Frame_Shift_Del_p.I237fs	NM_014580	NP_055395	Q9NY64	GTR8_HUMAN	Homo sapiens solute carrier family 2 (facilitated glucose transporter), member 8 (SLC2A8), mRNA.	237						cytoplasmic vesicle membrane|integral to plasma membrane	D-glucose transmembrane transporter activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	11						ACCCCCCCATCGGGGCTGAGC	0.677													-	130165020	C	-	130165020	7	5	252	1	0	1	0	1	0	0	0	0	14645	874	31	0	729	0	SLC2A8	9	130165020	Frame_Shift_Del	DEL	C	TCGA-74-6573-01A-12D-1845-08	6491388	130165020	11048411	35	17640											
ST8SIA6	338596	broad.mit.edu	37	chr10	17363244	17363244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactttgaaagaggtacccGtgttggccctgaaggaaaat	13	10	11	7	1	0	3	0	2	0	1	0	4	0	4	2	3	2	2	2	3	6	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr10:17363244G>A	uc001ipd.3	-	7	830	c.830C>T	c.(829-831)aCg>aTg	p.T277M	ST8SIA6_uc010qce.2_Non-coding_Transcript	NM_001004470	NP_001004470	P61647	SIA8F_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6 (ST8SIA6), mRNA.	277					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.T277T(1)		endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						AGAGGTACCCGTGTTGGCCCT	0.418													A	17363244	G	A	17363244	3	1	252	1	0	0	0	0	1	0	0	0	15332	1145	40	1	370	1	ST8SIA6	10	17363244	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		17363244	118171503	36	17641											
OR10A3	26496	broad.mit.edu	37	chr11	7960683	7960683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatcactgggtagttcagagGatggcaaattgcagcaaatc	14	9	11	7	0	2	1	2	0	0	1	3	2	2	2	0	3	2	5	0	3	4	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:7960683G>A	uc010rbi.2	-	0	385	c.385C>T	c.(385-387)Cct>Tct	p.P129S		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TAGTTCAGAGGATGGCAAATT	0.438													A	7960683	G	A	7960683	3	1	252	1	0	0	0	0	1	0	0	0	10967	1174	41	2	562	2	OR10A3	11	7960683	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		7960683	127045833	37	17642											
ELP4	26610	broad.mit.edu	37	chr11	31531364	31531364	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctgcggtagtgttgcCgcgagtactgggtctgcagt	6	10	15	10	3	1	0	0	0	1	0	1	1	1	0	2	2	5	5	2	2	3	3			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:31531364C>G	uc001mtc.3	+	0	68	c.33C>G	c.(31-33)gcC>gcG	p.A11A	IMMP1L_uc001msy.1_5'Flank|IMMP1L_uc001msz.1_5'Flank|ELP4_uc001mtb.3_Silent_p.A11A|ELP4_uc010rdz.2_Silent_p.A11A|IMMP1L_uc009yjo.3_5'Flank|IMMP1L_uc009yjp.3_5'Flank			Q96EB1	ELP4_HUMAN	Homo sapiens elongation protein 4 homolog (S. cerevisiae) (ELP4), mRNA.	11					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					GTAGTGTTGCCGCGAGTACTG	0.587													G	31531364	C	G	31531364	2	3	252	1	0	0	0	0	0	0	0	1	5123	639	23	4		4	ELP4	11	31531364	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08	23570681	31531364	103475152	38	17643											
KAT5	10524	broad.mit.edu	37	chr11	65486084	65486084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaactctccaaagtggaaGggaaaacagggacccctgag	15	5	12	9	0	1	2	0	2	1	0	2	5	1	5	3	3	2	0	3	3	5	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr11:65486084G>A	uc001ofi.3	+	11	1455	c.1189G>A	c.(1189-1191)Ggg>Agg	p.G397R	KAT5_uc001ofj.3_Missense_Mutation_p.G345R|KAT5_uc001ofk.3_Missense_Mutation_p.G430R|KAT5_uc010roo.2_Missense_Mutation_p.G378R|KAT5_uc001ofl.3_Missense_Mutation_p.G186R|RNASEH2C_uc001ofm.3_Non-coding_Transcript|RNASEH2C_uc001ofn.3_3'UTR	NM_006388	NP_006379	Q92993	KAT5_HUMAN	Homo sapiens K(lysine) acetyltransferase 5 (KAT5), transcript variant 2, mRNA.	397					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CAAAGTGGAAGGGAAAACAGG	0.502													A	65486084	G	A	65486084	3	1	252	1	0	0	0	0	1	0	0	0	8041	1000	35	2	1330	2	KAT5	11	65486084	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	33954720	65486084	69520432	39	17644											
KRT75	9119	broad.mit.edu	37	chr12	52824357	52824357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactcagcctcggcccGgctgcggttggcaatgtcct	5	8	13	15	3	1	0	1	0	0	0	3	1	2	1	4	5	2	3	4	5	1	1	rs2232397	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:52824357G>A	uc001saj.2	-	4	1025	c.1003C>T	c.(1003-1005)Cgg>Tgg	p.R335W		NM_004693	NP_004684	O95678	K2C75_HUMAN	Homo sapiens keratin 75 (KRT75), mRNA.	335	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCTCGGCCCGGCTGCGGTTG	0.547													A	52824357	G	A	52824357	3	1	252	1	0	0	0	0	1	0	0	0	8546	1115	39	1	672	1	KRT75	12	52824357	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08		52824357	81027538	40	17645											
ACTR6	64431	broad.mit.edu	37	chr12	100601474	100601474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atactaatattattatcactGaaccatactttaacttcact	15	16	1	9	0	2	1	2	1	0	0	2	1	2	1	1	0	4	0	1	0	8	9			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:100601474G>A	uc001thb.1	+	3	345	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	ACTR6_uc010svh.2_Missense_Mutation_p.E97K|ACTR6_uc001thc.1_5'UTR|ACTR6_uc009ztu.2_5'UTR|ACTR6_uc001the.1_Missense_Mutation_p.E15K|AX746635_uc001thg.1_Intron	NM_022496	NP_071941	Q9GZN1	ARP6_HUMAN	Homo sapiens ARP6 actin-related protein 6 homolog (yeast) (ACTR6), mRNA.	97						cytoplasm|cytoskeleton				autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14						TATTATCACTGAACCATACTT	0.259													A	100601474	G	A	100601474	3	1	252	1	0	0	0	0	1	0	0	0	216	1291	45	2	303	2	ACTR6	12	100601474	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	47777117	100601474	33250421	41	17646											
SYCP3	50511	broad.mit.edu	37	chr12	102128812	102128812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttggcaagaagagccttGttaatgtcaactagattgaa	13	12	9	7	0	2	4	1	1	1	3	2	4	2	4	1	1	2	2	1	1	6	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:102128812G>T	uc001tir.3	-	4	385	c.246C>A	c.(244-246)aaC>aaA	p.N82K	SYCP3_uc001tiq.3_Missense_Mutation_p.N82K|SYCP3_uc001tis.3_Missense_Mutation_p.N82K	NM_001177949	NP_710161	Q8IZU3	SYCP3_HUMAN	Homo sapiens synaptonemal complex protein 3 (SYCP3), transcript variant 1, mRNA.	82					cell division|male meiosis I|spermatogenesis, exchange of chromosomal proteins	nucleus	DNA binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	11						GAAGAGCCTTGTTAATGTCAA	0.308													T	102128812	G	T	102128812	3	4	252	1	0	0	0	0	1	0	0	0	15531	1368	48	4	484	4	SYCP3	12	102128812	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	1527338	102128812	31723083	42	17647											
EIF2B1	1967	broad.mit.edu	37	chr12	124111633	124111633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgacgtatacactaaatCgcttcttggccgccacggct	8	11	9	13	4	1	1	0	1	1	0	2	1	1	1	2	2	1	3	2	2	4	5			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr12:124111633C>T	uc001ufm.3	-	4	659	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	EIF2B1_uc010tat.2_Missense_Mutation_p.R147Q	NM_001414	NP_001405	Q14232	EI2BA_HUMAN	Homo sapiens eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa (EIF2B1), mRNA.	147					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity	p.R147*(1)		breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TACACTAAATCGCTTCTTGGC	0.502													T	124111633	C	T	124111633	3	4	252	1	0	0	0	0	1	0	0	0	5039	884	31	1	497	1	EIF2B1	12	124111633	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	21982821	124111633	9740262	43	17648											
TMEM62	80021	broad.mit.edu	37	chr15	43476674	43476674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttttattctcccctttgCggacctggttgacactgctg	4	17	8	12	1	1	1	0	1	1	0	2	2	1	2	3	2	2	2	3	2	1	6	rs146146981	byFrequency	TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:43476674C>T	uc001zqr.3	+	13	2101	c.1822C>T	c.(1822-1824)Cgg>Tgg	p.R608W	TMEM62_uc010bda.3_Missense_Mutation_p.R443W|CCNDBP1_uc021sjs.1_5'Flank|CCNDBP1_uc001zqv.3_5'Flank|CCNDBP1_uc010udl.2_5'Flank|CCNDBP1_uc021sjt.1_5'Flank|CCNDBP1_uc021sju.1_5'Flank|CCNDBP1_uc010bdb.3_5'Flank|CCNDBP1_uc001zqy.3_5'Flank	NM_024956	NP_079232	Q0P6H9	TMM62_HUMAN	Homo sapiens transmembrane protein 62 (TMEM62), mRNA.	608						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		CTCCCCTTTGCGGACCTGGTT	0.448													T	43476674	C	T	43476674	3	4	252	1	0	0	0	0	1	0	0	0	16289	759	27	1	1876	1	TMEM62	15	43476674	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		43476674	59054718	44	17649											
MYO5A	4644	broad.mit.edu	37	chr15	52681529	52681529	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgttgtacaattttTgggcccaggtgtcatctgtg	7	16	12	6	0	2	0	1	0	1	0	2	0	2	0	1	2	1	2	1	2	3	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:52681529T>G	uc002aby.2	-	12	1818	c.1574A>C	c.(1573-1575)cAa>cCa	p.Q525P	MYO5A_uc002abx.3_Missense_Mutation_p.Q525P|MYO5A_uc010uge.1_Missense_Mutation_p.Q394P	NM_000259	NP_000250	Q9Y4I1	MYO5A_HUMAN	Homo sapiens myosin VA (heavy chain 12, myoxin) (MYO5A), transcript variant 1, mRNA.	525	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTACAATTTTTGGGCCCAGGT	0.378													G	52681529	T	G	52681529	3	3	252	1	0	0	0	0	1	0	0	0	10154	1812	63	5	4109	5	MYO5A	15	52681529	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	9204855	52681529	49849863	45	17650											
TMC3	342125	broad.mit.edu	37	chr15	81625404	81625404	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattcattaatgacatagtAtctgggggcgtggggcctgg	9	11	14	7	1	2	1	1	1	1	0	2	1	2	1	1	5	0	1	1	5	3	4			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr15:81625404A>C	uc021ssk.1	-	21	2659	c.2659T>G	c.(2659-2661)Tac>Gac	p.Y887D	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	887						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGACATAGTATCTGGGGGCG	0.473													C	81625404	A	C	81625404	3	2	252	1	0	0	0	0	1	0	0	0	16086	449	16	5	647	5	TMC3	15	81625404	Missense_Mutation	SNP	A	TCGA-74-6573-01A-12D-1845-08	28943875	81625404	20905988	46	17651											
RANBP10	57610	broad.mit.edu	37	chr16	67840366	67840366	+	Frame_Shift_Del	DEL	C	C	-																															ccccaggggacggcagcccgCccccagcgcccccgccggag																										TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr16:67840366delC	uc002eud.3	-	0	190	c.74delG	c.(73-75)ggcfs	p.G25fs	RANBP10_uc010ceo.3_5'UTR|RANBP10_uc010vju.2_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjv.2_5'UTR|RANBP10_uc010vjx.1_Frame_Shift_Del_p.G25fs|RANBP10_uc010vjy.1_5'UTR|TSNAXIP1_uc010cep.2_5'Flank|TSNAXIP1_uc010vjz.1_5'Flank|TSNAXIP1_uc002euf.4_5'Flank|TSNAXIP1_uc010vka.2_5'Flank|TSNAXIP1_uc010vkb.2_5'Flank|TSNAXIP1_uc002eug.4_5'Flank|TSNAXIP1_uc002euh.4_5'Flank|TSNAXIP1_uc002eui.4_5'Flank|TSNAXIP1_uc002euj.3_5'Flank	NM_020850	NP_065901	Q6VN20	RBP10_HUMAN	Homo sapiens RAN binding protein 10 (RANBP10), mRNA.	25										endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CGGCAGCCCGCCCCCAGCGCC	0.711													-	67840366	C	-	67840366	7	5	252	1	0	1	0	1	0	0	0	0	13114	739	26	0	1844	0	RANBP10	16	67840366	Frame_Shift_Del	DEL	C	TCGA-74-6573-01A-12D-1845-08		67840366	22514387	47	17652											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr17:7578211C>T	uc002gim.2	-	5	832	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_uc002gig.1_Missense_Mutation_p.R213Q|TP53_uc002gih.3_Missense_Mutation_p.R213Q|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R81Q|TP53_uc010cnf.1_Missense_Mutation_p.R81Q|TP53_uc002gii.1_Missense_Mutation_p.R81Q|TP53_uc010cni.1_Missense_Mutation_p.R213Q|TP53_uc010cnh.1_Missense_Mutation_p.R213Q|TP53_uc002gij.2_Missense_Mutation_p.R213Q|TP53_uc010cnj.1_Intron|TP53_uc002gin.2_Missense_Mutation_p.R120Q|TP53_uc002gio.2_Missense_Mutation_p.R81Q|TP53_uc010vug.2_Missense_Mutation_p.R174Q|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(217)|p.R213L(73)|p.R213Q(56)|p.F212fs*3(11)|p.R213P(10)|p.R213fs*34(10)|p.0?(8)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R213R(4)|p.F212L(3)|p.R213G(3)|p.D208_V216delDRNTFRHSV(2)|p.D207_R213delDDRNTFR(2)|p.T211_S215delTFRHS(2)|p.R120Q(2)|p.F212I(2)|p.R81Q(2)|p.F212S(2)|p.R213>L(2)|p.R209_R213delRNTFR(2)|p.R213fs*2(2)|p.R213_S215>X(2)|p.D207_V216del10(2)|p.R213fs*32(2)|p.R213W(2)|p.K164_P219del(1)|p.T211_F212insX(1)|p.F212fs*4(1)|p.R213*33(1)|p.D208fs*1(1)|p.F212Y(1)|p.T211fs*28(1)|p.R213fs*35(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)		CACACTATGTCGAAAAGTGTT	0.532		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)			T	7578211	C	T	7578211	3	4	252	1	0	0	0	0	1	0	0	0	16482	884	31	1	656	1	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08		7578211	73616999	48	17653											
INSR	3643	broad.mit.edu	37	chr19	7120678	7120678	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccttcagggactccggTgccatccaccgtacagggag	8	7	11	15	2	1	0	1	0	0	0	4	2	4	2	6	3	2	1	6	3	1	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7120678T>C	uc002mgd.1	-	19	3721	c.3612A>G	c.(3610-3612)gcA>gcG	p.A1204A	INSR_uc002mge.1_Silent_p.A1192A	NM_000208	NP_000199	P06213	INSR_HUMAN	Homo sapiens insulin receptor (INSR), transcript variant 1, mRNA.	1204	Protein kinase.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGGACTCCGGTGCCATCCACC	0.522													C	7120678	T	C	7120678	2	2	252	1	0	0	0	0	0	0	0	1	7831	1683	59	3		3	INSR	19	7120678	Silent	SNP	T	TCGA-74-6573-01A-12D-1845-08		7120678	52008305	49	17654											
PNPLA6	10908	broad.mit.edu	37	chr19	7622102	7622102	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacgctgtcgggctaccTgcccccgctgtgcgacccca	5	7	11	18	4	0	1	0	1	0	0	1	2	0	1	5	1	3	3	5	1	1	1			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:7622102T>C	uc010xjq.2	+	28	3599	c.3359T>C	c.(3358-3360)cTg>cCg	p.L1120P	PNPLA6_uc002mgq.2_Missense_Mutation_p.L1072P|PNPLA6_uc010xjp.2_Missense_Mutation_p.L1045P|PNPLA6_uc002mgr.2_Missense_Mutation_p.L1072P|PNPLA6_uc002mgs.3_Missense_Mutation_p.L1110P	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	1111	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCGGGCTACCTGCCCCCGCTG	0.662													C	7622102	T	C	7622102	3	2	252	1	0	0	0	0	1	0	0	0	12246	1580	55	3	3469	3	PNPLA6	19	7622102	Missense_Mutation	SNP	T	TCGA-74-6573-01A-12D-1845-08	501424	7622102	51506881	50	17655											
SLC1A6	6511	broad.mit.edu	37	chr19	15061033	15061033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactctcgttgcctccccGtccccgggatgcccccttct	3	10	8	20	3	2	0	0	0	2	0	5	1	4	1	7	1	3	2	7	1	0	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:15061033G>A	uc002naa.1	-	8	1676	c.1669C>T	c.(1669-1671)Cgg>Tgg	p.R557W	SLC1A6_uc010dzu.1_Missense_Mutation_p.R479W|SLC1A6_uc010xod.1_Missense_Mutation_p.R493W	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	557					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.R557Q(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGCCTCCCCGTCCCCGGGAT	0.647													A	15061033	G	A	15061033	3	1	252	1	0	0	0	0	1	0	0	0	14530	1144	40	1	29	1	SLC1A6	19	15061033	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	7438931	15061033	44067950	51	17656											
FFAR3	2865	broad.mit.edu	37	chr19	35850547	35850547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcgtgggctatatctgcgGtgaaagcccggcgtggagga	7	9	17	8	4	1	1	0	1	1	0	2	3	1	3	1	5	2	1	1	5	3	2			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:35850547G>T	uc002nzd.3	+	1	830	c.755G>T	c.(754-756)gGt>gTt	p.G252V	FFAR3_uc021usm.1_Missense_Mutation_p.G252V	NM_005304	NP_005295	O14843	FFAR3_HUMAN	Homo sapiens free fatty acid receptor 3 (FFAR3), mRNA.	252						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			TATATCTGCGGTGAAAGCCCG	0.607													T	35850547	G	T	35850547	3	4	252	1	0	0	0	0	1	0	0	0	5878	1261	44	4	757	4	FFAR3	19	35850547	Missense_Mutation	SNP	G	TCGA-74-6573-01A-12D-1845-08	20789514	35850547	23278436	52	17657											
DPRX	503834	broad.mit.edu	37	chr19	54140039	54140039	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggtgtacacgggtcatCgagtcccctcattccagctc	6	10	10	15	2	2	0	2	0	0	0	6	1	4	0	4	2	2	2	4	2	1	2	rs150237904		TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr19:54140039C>T	uc002qcf.1	+	2	424	c.373C>T	c.(373-375)Cga>Tga	p.R125*		NM_001012728	NP_001012746	A6NFQ7	DPRX_HUMAN	Homo sapiens divergent-paired related homeobox (DPRX), mRNA.	125						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|large_intestine(1)|lung(7)	12	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.013)		CACGGGTCATCGAGTCCCCTC	0.567													T	54140039	C	T	54140039	4	4	252	1	0	0	0	0	0	1	0	0	4777	876	31	1	383	1	DPRX	19	54140039	Nonsense_Mutation	SNP	C	TCGA-74-6573-01A-12D-1845-08	18289492	54140039	4988944	53	17658											
TRIOBP	11078	broad.mit.edu	37	chr22	38120288	38120288	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccacacgagacaacccCagaacatcctgtgcccagcg	13	3	9	16	2	0	3	0	0	0	3	1	4	1	3	5	0	5	0	5	0	2	0			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chr22:38120288C>T	uc003atr.3	+	6	1996	c.1725C>T	c.(1723-1725)ccC>ccT	p.P575P	TRIOBP_uc003atu.3_Silent_p.P403P|TRIOBP_uc003atq.1_Silent_p.P575P|TRIOBP_uc003ats.1_Silent_p.P403P	NM_001039141	NP_001034230	Q9H2D6	TARA_HUMAN	Homo sapiens TRIO and F-actin binding protein (TRIOBP), transcript variant 6, mRNA.	575					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GAGACAACCCCAGAACATCCT	0.582													T	38120288	C	T	38120288	2	4	252	1	0	0	0	0	0	0	0	1	16654	581	21	2		2	TRIOBP	22	38120288	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		38120288	13184278	54	17659											
SATL1	340562	broad.mit.edu	37	chrX	84363108	84363108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttggttgtttcatgtcCacttggttcatttcatatag	7	19	8	7	0	3	0	3	0	0	0	4	0	4	0	1	2	1	4	1	2	2	8			TCGA-74-6573-01A-12D-1845-08	TCGA-74-6573-11A-02D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0941e50e-1205-49ed-8735-1f86eaf87718	32086039-510b-4cae-908d-4a3b4cbf7eba	g.chrX:84363108C>T	uc004een.3	-	0	867	c.867G>A	c.(865-867)gtG>gtA	p.V289V		NM_001012980	NP_001012998	Q86VE3	SATL1_HUMAN	Homo sapiens spermidine/spermine N1-acetyl transferase-like 1 (SATL1), mRNA.	102	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GTTTCATGTCCACTTGGTTCA	0.463													T	84363108	C	T	84363108	2	4	252	1	0	0	0	0	0	0	0	1	13947	581	21	2		2	SATL1	23	84363108	Silent	SNP	C	TCGA-74-6573-01A-12D-1845-08		84363108	70907452	55	17660											
SERINC2	347735	broad.mit.edu	37	chr1	31897702	31897702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcagccgggacccccGggctgccatccagaatgggt	8	4	15	14	2	0	1	0	0	0	1	1	3	1	2	5	3	4	3	5	3	1	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:31897702G>A	uc021okm.1	+	3	674	c.401G>A	c.(400-402)cGg>cAg	p.R134Q	SERINC2_uc010ogg.2_Missense_Mutation_p.R129Q|SERINC2_uc009vtw.1_Missense_Mutation_p.R125Q|SERINC2_uc001bst.3_Missense_Mutation_p.R125Q|SERINC2_uc001bsu.3_Missense_Mutation_p.R70Q|SERINC2_uc010ogh.2_Missense_Mutation_p.R129Q	NM_001199038	NP_001185967	Q96SA4	SERC2_HUMAN	Homo sapiens serine incorporator 2 (SERINC2), transcript variant 4, mRNA.	125						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CGGGACCCCCGGGCTGCCATC	0.647													A	31897702	G	A	31897702	3	1	253	1	0	0	0	0	1	0	0	0	14173	1116	39	1	384	1	SERINC2	1	31897702	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		31897702	217352919	1	17661											
WLS	79971	broad.mit.edu	37	chr1	68610274	68610274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactaacgatgaagaagatgAcagtcatggcagcgcaggcc	14	5	13	9	2	1	4	1	2	0	2	1	6	1	4	1	2	2	2	1	2	3	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:68610274A>G	uc001dee.3	-	9	1636	c.1334T>C	c.(1333-1335)gTc>gCc	p.V445A	GNG12-AS1_uc001deb.2_Intron|GNG12-AS1_uc001dec.2_Intron|WLS_uc001def.2_Missense_Mutation_p.V447A|WLS_uc001deg.2_Missense_Mutation_p.V356A|WLS_uc009wbf.1_Missense_Mutation_p.V402A	NM_001002292	NP_001002292	Q5T9L3	WLS_HUMAN	Homo sapiens wntless homolog (Drosophila) (WLS), transcript variant 2, mRNA.	447					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|Wnt receptor signaling pathway	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	signal transducer activity	p.M445T(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(4)|prostate(3)|urinary_tract(1)	20						GAAGAAGATGACAGTCATGGC	0.443													G	68610274	A	G	68610274	3	3	253	1	0	0	0	0	1	0	0	0	17478	275	10	3	423	3	WLS	1	68610274	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	36712572	68610274	180640347	2	17662											
SLC35A3	23443	broad.mit.edu	37	chr1	100464899	100464899	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttaaacttgctattccAtcagggatctatactcttca	12	14	4	11	0	4	0	2	0	2	0	5	1	5	1	1	1	3	1	1	1	5	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:100464899A>C	uc001dsr.1	+	2	497	c.396A>C	c.(394-396)ccA>ccC	p.P132P	SLC35A3_uc001dsp.1_Silent_p.P90P|SLC35A3_uc009wdy.1_Silent_p.P90P|SLC35A3_uc001dss.1_Silent_p.P9P	NM_012243	NP_036375	Q9Y2D2	S35A3_HUMAN	Homo sapiens solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3 (SLC35A3), mRNA.	90					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		TTGCTATTCCATCAGGGATCT	0.308													C	100464899	A	C	100464899	2	2	253	1	0	0	0	0	0	0	0	1	14666	204	8	5		5	SLC35A3	1	100464899	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	31854625	100464899	148785722	3	17663											
THEM5	284486	broad.mit.edu	37	chr1	151820732	151820732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttttagaaaaggtctcGtccatcatggctgccaggga	10	10	12	9	1	2	1	1	0	1	1	4	2	3	2	2	3	1	3	2	3	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:151820732G>A	uc021oyw.1	-	3	633	c.501C>T	c.(499-501)gaC>gaT	p.D167D		NM_182578	NP_872384	Q8N1Q8	THEM5_HUMAN	Homo sapiens thioesterase superfamily member 5 (THEM5), mRNA.	167							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAAGGTCTCGTCCATCATGG	0.587													A	151820732	G	A	151820732	2	1	253	1	0	0	0	0	0	0	0	1	15959	1136	40	1		1	THEM5	1	151820732	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	51355833	151820732	97429889	4	17664											
CD1E	913	broad.mit.edu	37	chr1	158325309	158325309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttggtcacacctgccctcGatttctagcggggctcatgg	5	12	11	13	2	4	0	2	0	2	0	5	1	4	0	2	4	2	1	2	4	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158325309G>A	uc001fse.3	+	2	868	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	CD1E_uc010pid.2_Missense_Mutation_p.R190Q|CD1E_uc010pie.2_Missense_Mutation_p.R93Q|CD1E_uc001fsh.3_Intron|CD1E_uc001fry.3_Missense_Mutation_p.R192Q|CD1E_uc001fsf.3_Missense_Mutation_p.R192Q|CD1E_uc001fsg.3_Intron|CD1E_uc009wsv.3_Missense_Mutation_p.R93Q|CD1E_uc001fsj.3_Intron|CD1E_uc001fsk.3_Intron|CD1E_uc001fsa.3_Intron|CD1E_uc001fsd.3_Missense_Mutation_p.R192Q|CD1E_uc001frz.3_Intron|CD1E_uc010pig.2_Intron|CD1E_uc001fsc.3_Intron|CD1E_uc021pbm.1_5'Flank|CD1E_uc009wsw.3_5'Flank	NM_030893	NP_112155	P15812	CD1E_HUMAN	Homo sapiens CD1e molecule (CD1E), transcript variant 1, mRNA.	192	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					ACCTGCCCTCGATTTCTAGCG	0.507													A	158325309	G	A	158325309	3	1	253	1	0	0	0	0	1	0	0	0	3008	1058	37	1	585	1	CD1E	1	158325309	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	6504577	158325309	90925312	5	17665											
SPTA1	6708	broad.mit.edu	37	chr1	158621161	158621161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagccttagttacctgcCggatttgagctccttctggt	6	13	12	10	1	1	1	0	1	1	0	2	3	2	3	4	3	4	2	4	3	2	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:158621161C>T	uc001fst.1	-	23	3672	c.3473G>A	c.(3472-3474)cGg>cAg	p.R1158Q		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	1158					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGTTACCTGCCGGATTTGAGC	0.463													T	158621161	C	T	158621161	3	4	253	1	0	0	0	0	1	0	0	0	15212	652	23	1	3902	1	SPTA1	1	158621161	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	295852	158621161	90629460	6	17666											
SLAMF6	114836	broad.mit.edu	37	chr1	160461161	160461161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgactgtgattggtaacttGtatgttcctcagttgtcctg	6	17	10	8	0	1	2	1	2	0	0	3	2	3	2	2	1	1	4	2	1	2	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:160461161G>T	uc001fwe.2	-	2	470	c.400C>A	c.(400-402)Caa>Aaa	p.Q134K	SLAMF6_uc010pji.2_Missense_Mutation_p.Q23K|SLAMF6_uc001fwd.2_Missense_Mutation_p.Q134K|SLAMF6_uc010pjh.2_Missense_Mutation_p.Q85K|SLAMF6_uc010pjj.2_Missense_Mutation_p.Q23K|SLAMF6_uc009wtm.2_Missense_Mutation_p.Q85K	NM_001184714	NP_001171643	Q96DU3	SLAF6_HUMAN	Homo sapiens SLAM family member 6 (SLAMF6), transcript variant 1, mRNA.	134	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			TTGGTAACTTGTATGTTCCTC	0.418													T	160461161	G	T	160461161	3	4	253	1	0	0	0	0	1	0	0	0	14462	1386	48	4	622	4	SLAMF6	1	160461161	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	1840000	160461161	88789460	7	17667											
NCF2	4688	broad.mit.edu	37	chr1	183532621	183532621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttagacaccatgtcccGgacctggctgtaggggagcc	7	10	12	12	1	1	1	0	0	1	1	2	3	2	3	4	4	1	2	4	4	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:183532621G>A	uc001gqj.4	-	11	1401	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	NCF2_uc010pod.2_Missense_Mutation_p.R331W|NCF2_uc010poe.2_Missense_Mutation_p.R295W|NCF2_uc001gqk.4_Missense_Mutation_p.R376W	NM_000433	NP_001121123	P19878	NCF2_HUMAN	Homo sapiens neutrophil cytosolic factor 2 (NCF2), transcript variant 1, mRNA.	376	OPR.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACCATGTCCCGGACCTGGCTG	0.567													A	183532621	G	A	183532621	3	1	253	1	0	0	0	0	1	0	0	0	10293	1115	39	1	470	1	NCF2	1	183532621	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	23071460	183532621	65718000	8	17668											
CFHR5	81494	broad.mit.edu	37	chr1	196977626	196977626	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttcagatccatgtgTggtatctgaagaaaacatga	12	14	8	7	0	4	4	1	2	3	2	5	4	5	4	1	1	1	1	1	1	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:196977626T>C	uc001gts.4	+	9	1651	c.1523T>C	c.(1522-1524)gTg>gCg	p.V508A		NM_030787	NP_110414	Q9BXR6	FHR5_HUMAN	Homo sapiens complement factor H-related 5 (CFHR5), mRNA.	508	Sushi 9.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						GATCCATGTGTGGTATCTGAA	0.289													C	196977626	T	C	196977626	3	2	253	1	0	0	0	0	1	0	0	0	3318	1696	59	3	1561	3	CFHR5	1	196977626	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	13445005	196977626	52272995	9	17669											
USH2A	7399	broad.mit.edu	37	chr1	216498789	216498789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcttcaggattcaacCgtgacactctattatcagct	10	12	9	10	1	4	1	3	1	1	0	4	3	4	2	1	2	2	2	1	2	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:216498789C>T	uc001hku.1	-	5	1388	c.1001G>A	c.(1000-1002)cGg>cAg	p.R334Q	USH2A_uc001hkv.3_Missense_Mutation_p.R334Q	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	334	Laminin N-terminal.		R -> Q (in USH2A).|R -> W (in USH2A).		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)		AGGATTCAACCGTGACACTCT	0.468										HNSCC(13;0.011)			T	216498789	C	T	216498789	3	4	253	1	0	0	0	0	1	0	0	0	17138	652	23	1	14889	1	USH2A	1	216498789	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	19521163	216498789	32751832	10	17670											
OR14A16	284532	broad.mit.edu	37	chr1	247978682	247978682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagcagtatagcggtcaaagGacatcaccgtgaggaggagc	13	6	14	8	2	2	1	2	1	0	0	2	4	2	4	1	4	3	2	1	4	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:247978682G>A	uc001idm.1	-	0	350	c.350C>T	c.(349-351)tCc>tTc	p.S117F		NM_001001966	NP_001001966	Q8NHC5	O14AG_HUMAN	Homo sapiens olfactory receptor, family 14, subfamily A, member 16 (OR14A16), mRNA.	117					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCGGTCAAAGGACATCACCGT	0.483													A	247978682	G	A	247978682	3	1	253	1	0	0	0	0	1	0	0	0	11021	1174	41	2	583	2	OR14A16	1	247978682	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	31479893	247978682	1271939	11	17671											
OR2L13	284521	broad.mit.edu	37	chr1	248263535	248263535	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccccatgctcaatccCattatctacagcctgaggaa	11	10	5	15	0	2	1	1	1	1	0	3	2	3	2	4	1	4	1	4	1	5	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr1:248263535C>A	uc001ids.3	+	2	1195	c.858C>A	c.(856-858)ccC>ccA	p.P286P	OR2L13_uc021pmc.1_Silent_p.P286P	NM_175911	NP_787107	Q8N349	OR2LD_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 13 (OR2L13), mRNA.	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity|protein binding	p.P286P(3)|p.P286S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(32)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	59	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0132)			TGCTCAATCCCATTATCTACA	0.493													A	248263535	C	A	248263535	2	1	253	1	0	0	0	0	0	0	0	1	11082	581	21	4		4	OR2L13	1	248263535	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	284853	248263535	987086	12	17672											
SOS1	6654	broad.mit.edu	37	chr2	39250170	39250170	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatttacagcaaatcattaAgccatcaaagagaaatatgt	18	11	6	6	0	2	2	2	1	0	1	2	3	2	2	1	0	3	1	1	0	6	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:39250170A>C	uc002rrk.4	-	9	1440	c.1399T>G	c.(1399-1401)Tta>Gta	p.L467V	SOS1_uc010ynr.1_Non-coding_Transcript|SOS1_uc002rrj.4_Missense_Mutation_p.L81V|SOS1_uc002rrl.3_Missense_Mutation_p.L199V	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	467	PH.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CAAATCATTAAGCCATCAAAG	0.378									Noonan syndrome				C	39250170	A	C	39250170	3	2	253	1	0	0	0	0	1	0	0	0	15030	69	3	5	2658	5	SOS1	2	39250170	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08		39250170	203949203	13	17673											
TGFA	7039	broad.mit.edu	37	chr2	70742023	70742023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgctgttctccaaggccTggcacgcagccaacacaata	11	7	9	14	2	1	0	0	0	1	0	2	0	1	0	3	2	3	4	3	2	4	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:70742023T>C	uc002sgs.4	-	1	310	c.62A>G	c.(61-63)cAg>cGg	p.Q21R	TGFA_uc010fdq.3_Missense_Mutation_p.Q27R|TGFA_uc010fdr.3_Missense_Mutation_p.Q27R|TGFA_uc002sgt.4_Missense_Mutation_p.Q21R|TGFA_uc002sgu.3_Missense_Mutation_p.Q21R|TGFA_uc002sgv.3_Missense_Mutation_p.Q21R|TGFA_uc002sgw.3_Missense_Mutation_p.Q21R	NM_003236	NP_003227	P01135	TGFA_HUMAN	Homo sapiens transforming growth factor, alpha (TGFA), transcript variant 1, mRNA.	21					activation of MAPK activity|cell proliferation|positive regulation of cell division|positive regulation of epidermal growth factor receptor activity|positive regulation of epithelial cell proliferation|positive regulation of mitosis	cell surface|extracellular space|integral to membrane|plasma membrane	epidermal growth factor receptor binding|growth factor activity|MAP kinase kinase activity|signal transducer activity			haematopoietic_and_lymphoid_tissue(1)|lung(2)|prostate(1)	4						CTCCAAGGCCTGGCACGCAGC	0.607													C	70742023	T	C	70742023	3	2	253	1	0	0	0	0	1	0	0	0	15915	1580	55	3	440	3	TGFA	2	70742023	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	31491853	70742023	172457350	14	17674											
ZNF638	27332	broad.mit.edu	37	chr2	71576267	71576267	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctggccatgaatcttaTcagaacatggggccacagag	11	10	11	9	0	2	3	1	1	1	2	2	3	2	3	2	3	2	1	2	3	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:71576267T>C	uc002shx.3	+	1	506	c.183T>C	c.(181-183)taT>taC	p.Y61Y	ZNF638_uc010fec.2_Silent_p.Y167Y|ZNF638_uc010yqw.1_Intron|ZNF638_uc002shw.3_Silent_p.Y61Y|ZNF638_uc002shz.3_Silent_p.Y61Y|ZNF638_uc002shy.3_Silent_p.Y61Y|ZNF638_uc002sia.3_Silent_p.Y61Y|ZNF638_uc002sib.1_Silent_p.Y61Y	NM_014497	NP_055312	Q14966	ZN638_HUMAN	Homo sapiens zinc finger protein 638 (ZNF638), transcript variant 1, mRNA.	61					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ATGAATCTTATCAGAACATGG	0.448													C	71576267	T	C	71576267	2	2	253	1	0	0	0	0	0	0	0	1	18156	1442	50	3		3	ZNF638	2	71576267	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08	834244	71576267	171623106	15	17675											
TTC30A	92104	broad.mit.edu	37	chr2	178481798	178481798	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatcaccaaattcacaatGcagagatggtacattttccg	13	11	6	11	1	2	1	2	0	0	1	3	2	3	1	3	1	2	2	3	1	4	5	rs150534803		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:178481798G>A	uc002ulo.3	-	0	1897	c.1632C>T	c.(1630-1632)tgC>tgT	p.C544C		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	544					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			AATTCACAATGCAGAGATGGT	0.383													A	178481798	G	A	178481798	2	1	253	1	0	0	0	0	0	0	0	1	16800	1311	46	2		2	TTC30A	2	178481798	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	106905531	178481798	64717575	16	17676											
TTN	7273	broad.mit.edu	37	chr2	179417389	179417389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgtcttacttatgccagCgtgggaccacgtctgttcac	8	12	9	12	2	3	0	1	0	2	0	3	1	3	1	2	1	3	1	2	1	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179417389C>T	uc021vsy.1	-	283	82759	c.82534G>A	c.(82534-82536)Gct>Act	p.A27512T	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.A21207T|TTN_uc021vta.1_Missense_Mutation_p.A21140T|TTN_uc021vtb.1_Missense_Mutation_p.A21015T	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	28439	Fibronectin type-III 100.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTATGCCAGCGTGGGACCAC	0.453													T	179417389	C	T	179417389	3	4	253	1	0	0	0	0	1	0	0	0	16837	768	27	1	17853	1	TTN	2	179417389	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	935591	179417389	63781984	17	17677											
TTN	7273	broad.mit.edu	37	chr2	179448529	179448529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagtttgcaagcttctaCgaaatagccaataattttac	15	12	7	7	1	1	0	0	0	1	0	1	2	1	1	1	1	5	3	1	1	8	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179448529C>T	uc021vsy.1	-	260	57901	c.57676G>A	c.(57676-57678)Gta>Ata	p.V19226I	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Non-coding_Transcript|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.V12921I|TTN_uc021vta.1_Missense_Mutation_p.V12854I|TTN_uc021vtb.1_Missense_Mutation_p.V12729I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	20153	Fibronectin type-III 39.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R19226C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCTTCTACGAAATAGCCA	0.463													T	179448529	C	T	179448529	3	4	253	1	0	0	0	0	1	0	0	0	16837	536	19	1	42803	1	TTN	2	179448529	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	31140	179448529	63750844	18	17678											
TTN	7273	broad.mit.edu	37	chr2	179515501	179515501	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggggaggagactccgctCtttctggaacaggaacagct	9	8	14	10	1	2	1	0	0	2	1	3	5	3	4	1	5	3	2	1	5	2	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:179515501C>G	uc021vsy.1	-	162	32609	c.32384G>C	c.(32383-32385)aGa>aCa	p.R10795T	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc010fre.1_Intron|TTN_uc002umw.1_Non-coding_Transcript|TTN_uc002umx.1_5'UTR	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11722	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGACTCCGCTCTTTCTGGAAC	0.423													G	179515501	C	G	179515501	3	3	253	1	0	0	0	0	1	0	0	0	16837	913	32	4	68201	4	TTN	2	179515501	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	66972	179515501	63683872	19	17679											
UGT1A1	54657	broad.mit.edu	37	chr2	234628246	234628246	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggctgttccgaggggaCtttgtgatggactaccccag	6	11	15	9	1	0	1	0	1	0	0	1	4	1	3	3	4	1	2	3	4	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr2:234628246C>T	uc002vuw.3	+						UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Intron|UGT1A1_uc002vuv.4_Intron|UGT1A1_uc010zmz.1_Intron|UGT1A1_uc010zna.1_Silent_p.D260D|UGT1A1_uc002vux.3_Silent_p.D260D	NM_019078	NP_061951	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A5 (UGT1A5), mRNA.						bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TCCGAGGGGACTTTGTGATGG	0.527													T	234628246	C	T	234628246	2	4	253	1	0	0	0	0	0	0	0	1	17046	564	20	2		2	UGT1A1	2	234628246	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	55112745	234628246	8571127	20	17680											
TATDN2	9797	broad.mit.edu	37	chr3	10302000	10302000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcatcctggggaaatcGatgccaaaaaggaagggaga	15	4	15	7	1	0	1	0	0	0	1	2	5	1	3	2	5	1	1	2	5	4	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:10302000G>A	uc011atr.2	+	2	1175	c.594G>A	c.(592-594)tcG>tcA	p.S198S	TATDN2_uc003bvg.2_Silent_p.S198S|TATDN2_uc003bvf.3_Silent_p.S198S|TATDN2_uc011ats.1_Non-coding_Transcript|TATDN2_uc011att.1_Non-coding_Transcript	NM_014760	NP_055575	Q93075	TATD2_HUMAN	Homo sapiens TatD DNase domain containing 2 (TATDN2), mRNA.	198						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						TGGGGAAATCGATGCCAAAAA	0.557													A	10302000	G	A	10302000	2	1	253	1	0	0	0	0	0	0	0	1	15689	1045	37	1		1	TATDN2	3	10302000	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		10302000	187720430	21	17681											
BSN	8927	broad.mit.edu	37	chr3	49694511	49694511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggcccccccttacacatGcagccttcattgccatggca	8	10	7	16	0	1	0	1	0	0	0	1	0	1	0	5	2	4	2	5	2	1	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:49694511G>A	uc003cxe.4	+	4	7636	c.7522G>A	c.(7522-7524)Gca>Aca	p.A2508T		NM_003458	NP_003449	Q9UPA5	BSN_HUMAN	Homo sapiens bassoon (presynaptic cytomatrix protein) (BSN), mRNA.	2508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTTACACATGCAGCCTTCAT	0.642													A	49694511	G	A	49694511	3	1	253	1	0	0	0	0	1	0	0	0	1539	1319	46	2	7540	2	BSN	3	49694511	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	39392511	49694511	148327919	22	17682											
RBM6	10180	broad.mit.edu	37	chr3	50099537	50099537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaagacagaggagtgaCgagggtaagaggaattgtta	18	6	15	2	1	0	4	0	1	0	3	0	8	0	6	0	3	0	2	0	3	6	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:50099537C>T	uc003cyc.3	+	14	2830	c.2582C>T	c.(2581-2583)aCg>aTg	p.T861M	RBM6_uc010hlc.2_Missense_Mutation_p.T380M|RBM6_uc003cyd.3_Missense_Mutation_p.T339M|RBM6_uc011bdi.2_Missense_Mutation_p.T203M|RBM6_uc003cye.3_Missense_Mutation_p.T339M|RBM6_uc010hlf.2_Non-coding_Transcript|RBM6_uc010hld.2_Non-coding_Transcript|RBM6_uc010hle.2_Non-coding_Transcript	NM_005777	NP_001161054	P78332	RBM6_HUMAN	Homo sapiens RNA binding motif protein 6 (RBM6), transcript variant 1, mRNA.	861					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		AGAGGAGTGACGAGGGTAAGA	0.378													T	50099537	C	T	50099537	3	4	253	1	0	0	0	0	1	0	0	0	13232	536	19	1	2636	1	RBM6	3	50099537	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	405026	50099537	147922893	23	17683											
RBM15B	29890	broad.mit.edu	37	chr3	51429849	51429850	+	Frame_Shift_Ins	INS	-	-	A																															cgggccacgcgcaacctcttINScattggtaacctggaccaca																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:51429849_51429850insA	uc003dbd.3	+	0	1151_1152	c.1019_1020insA	c.(1018-1020)ttcfs	p.F340fs		NM_013286	NP_037418	Q8NDT2	RB15B_HUMAN	Homo sapiens RNA binding motif protein 15B (RBM15B), mRNA.	340	RRM 2.				interspecies interaction between organisms|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|large_intestine(5)|lung(3)	12				BRCA - Breast invasive adenocarcinoma(193;0.000224)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCAACCTCTTCATTGGTAACC	0.609													A	51429850	-	A	51429849	7	5	253	1	0	1	1	0	0	0	0	0	13205	1783	62	0	1021	0	RBM15B	3	51429849	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08	1330312	51429849	146592581	24	17684											
CADPS	8618	broad.mit.edu	37	chr3	62467450	62467450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaaaaagtaggcatttGtgggatgcctagagggatgt	11	10	15	5	1	0	1	0	0	0	1	0	4	0	3	2	3	2	2	2	3	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:62467450G>T	uc003dll.2	-	21	3481	c.3121C>A	c.(3121-3123)Caa>Aaa	p.Q1041K	CADPS_uc003dlj.1_5'UTR|CADPS_uc003dlk.1_Intron|CADPS_uc003dlm.2_Intron|CADPS_uc003dln.2_Intron|CADPS_uc021wzv.1_Intron	NM_003716	NP_003707	Q9ULU8	CAPS1_HUMAN	Homo sapiens Ca++-dependent secretion activator (CADPS), transcript variant 1, mRNA.	1041	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTAGGCATTTGTGGGATGCCT	0.423													T	62467450	G	T	62467450	3	4	253	1	0	0	0	0	1	0	0	0	2596	1386	48	4	976	4	CADPS	3	62467450	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	11037601	62467450	135554980	25	17685											
ROBO2	6092	broad.mit.edu	37	chr3	77671470	77671470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgatttggaaacggatgTtgcagatgatgatgccgacg	10	12	13	6	3	1	4	0	3	1	1	1	7	1	6	1	2	3	2	1	2	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:77671470T>C	uc011bgk.2	+	23	4302	c.3659T>C	c.(3658-3660)gTt>gCt	p.V1220A	ROBO2_uc021xat.1_Missense_Mutation_p.V1232A|ROBO2_uc003dpy.4_Missense_Mutation_p.V1216A|ROBO2_uc003dpz.3_Missense_Mutation_p.V1220A|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	1216					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GAAACGGATGTTGCAGATGAT	0.488													C	77671470	T	C	77671470	3	2	253	1	0	0	0	0	1	0	0	0	13605	1725	60	3	3739	3	ROBO2	3	77671470	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	15204020	77671470	120350960	26	17686											
MORC1	27136	broad.mit.edu	37	chr3	108724078	108724078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttttctgtcctctacGgctcgctgaaagctcaaagg	7	14	9	11	2	4	1	1	1	3	0	6	1	5	1	1	2	2	4	1	2	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:108724078G>A	uc003dxl.3	-	18	1939	c.1852C>T	c.(1852-1854)Cgt>Tgt	p.R618C	MORC1_uc011bhn.2_Missense_Mutation_p.R597C	NM_014429	NP_055244	Q86VD1	MORC1_HUMAN	Homo sapiens MORC family CW-type zinc finger 1 (MORC1), mRNA.	618					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TGTCCTCTACGGCTCGCTGAA	0.363													A	108724078	G	A	108724078	3	1	253	1	0	0	0	0	1	0	0	0	9777	1116	39	1	1142	1	MORC1	3	108724078	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	31052608	108724078	89298352	27	17687											
ECT2	1894	broad.mit.edu	37	chr3	172501613	172501613	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagatttggtaaaaacctacCctccctttgtaaacttcttt	12	15	4	10	0	1	1	0	0	1	1	2	1	2	1	3	1	3	2	3	1	7	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:172501613C>G	uc003fii.2	+	14	1687	c.1549C>G	c.(1549-1551)Cct>Gct	p.P517A	ECT2_uc010hwv.1_Missense_Mutation_p.P548A|ECT2_uc003fih.2_Missense_Mutation_p.P516A|ECT2_uc003fij.1_Missense_Mutation_p.P517A|ECT2_uc003fik.1_Missense_Mutation_p.P517A|ECT2_uc003fil.1_Missense_Mutation_p.P548A	NM_018098	NP_060568	Q9H8V3	ECT2_HUMAN	Homo sapiens epithelial cell transforming sequence 2 oncogene (ECT2), mRNA.	517	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			AAAAACCTACCCTCCCTTTGT	0.308													G	172501613	C	G	172501613	3	3	253	1	0	0	0	0	1	0	0	0	4940	623	22	4	1603	4	ECT2	3	172501613	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	63777535	172501613	25520817	28	17688											
TP63	8626	broad.mit.edu	37	chr3	189582022	189582022	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccccaactctaagcagtAttccactgaactgaagaaac	14	8	7	12	0	1	3	0	2	1	1	2	3	2	3	3	1	4	2	3	1	6	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:189582022A>C	uc003fry.2	+	5	669	c.580_splice	c.e5-1	p.Y194_splice	TP63_uc003frx.2_Splice_Site_p.Y194_splice|TP63_uc003frz.2_Splice_Site_p.Y194_splice|TP63_uc010hzc.1_Splice_Site_p.Y194_splice|TP63_uc003fsa.2_Splice_Site_p.Y100_splice|TP63_uc003fsb.2_Splice_Site_p.Y100_splice|TP63_uc003fsc.2_Splice_Site_p.Y100_splice|TP63_uc003fsd.2_Splice_Site_p.Y100_splice|TP63_uc021xir.1_Splice_Site_p.Y100_splice|TP63_uc010hzd.1_Splice_Site_p.Y15_splice|TP63_uc003fse.1_Splice_Site_p.Y75_splice	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	194					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TCTAAGCAGTATTCCACTGAA	0.463										HNSCC(45;0.13)			C	189582022	A	C	189582022	3	2	253	1	0	0	0	0	1	0	0	0	16493	463	16	5	645	5	TP63	3	189582022	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	17080409	189582022	8440408	29	17689											
CPN2	1370	broad.mit.edu	37	chr3	194062052	194062052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccccctgccttgctttcGtccggccacgtgacctggaa	4	10	10	17	3	0	1	0	1	0	0	2	2	1	2	6	2	3	1	6	2	1	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194062052G>A	uc003fts.3	-	1	1470	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	CPN2_uc021xix.1_Silent_p.D460D	NM_001080513	NP_001073982	P22792	CPN2_HUMAN	Homo sapiens carboxypeptidase N, polypeptide 2 (CPN2), mRNA.	460					protein stabilization	extracellular region	enzyme regulator activity	p.P459P(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		CCTTGCTTTCGTCCGGCCACG	0.657													A	194062052	G	A	194062052	2	1	253	1	0	0	0	0	0	0	0	1	3841	1136	40	1		1	CPN2	3	194062052	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	4480030	194062052	3960378	30	17690											
ATP13A3	79572	broad.mit.edu	37	chr3	194165469	194165469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaccgtgcattttccactCgttgaatcccccaaagatct	9	14	5	13	2	1	2	0	1	1	1	4	2	3	2	4	0	2	2	4	0	3	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr3:194165469C>T	uc003fty.4	-	13	1946	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	ATP13A3_uc003ftz.1_Missense_Mutation_p.R221Q	NM_024524	NP_078800	Q9H7F0	AT133_HUMAN	Homo sapiens ATPase type 13A3 (ATP13A3), mRNA.	515					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ATTTTCCACTCGTTGAATCCC	0.308													T	194165469	C	T	194165469	3	4	253	1	0	0	0	0	1	0	0	0	1130	884	31	1	2212	1	ATP13A3	3	194165469	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	103417	194165469	3856961	31	17691											
FRAS1	80144	broad.mit.edu	37	chr4	79236806	79236806	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgtcttacctgtacTgagaagacagtgctgcatga	10	10	11	10	0	1	3	0	2	1	2	1	4	1	3	2	1	4	3	2	1	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79236806T>G	uc003hlb.2	+	15	2177	c.1737T>G	c.(1735-1737)acT>acG	p.T579T	FRAS1_uc003hkw.3_Silent_p.T579T|FRAS1_uc003hky.1_Silent_p.T283T|FRAS1_uc003hkz.3_Silent_p.T283T|FRAS1_uc003hla.1_Silent_p.T90T	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	579					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTACCTGTACTGAGAAGACAG	0.517													G	79236806	T	G	79236806	2	3	253	1	0	0	0	0	0	0	0	1	6093	1567	55	5		5	FRAS1	4	79236806	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08		79236806	111917470	32	17692											
FRAS1	80144	broad.mit.edu	37	chr4	79400786	79400786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgcattggaagggtggCgacagccaaggtgctcatta	9	8	14	10	2	1	0	1	0	0	0	1	2	1	1	2	4	3	2	2	4	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:79400786C>T	uc003hlb.2	+	55	8797	c.8357C>T	c.(8356-8358)gCg>gTg	p.A2786V		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2781	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGAAGGGTGGCGACAGCCAAG	0.522													T	79400786	C	T	79400786	3	4	253	1	0	0	0	0	1	0	0	0	6093	768	27	1	8654	1	FRAS1	4	79400786	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	163980	79400786	111753490	33	17693											
FHDC1	85462	broad.mit.edu	37	chr4	153881743	153881743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttaaaagcgtttagtggCgacgtgtcgaagctgtctct	10	12	12	7	4	1	0	0	0	1	0	3	2	1	0	0	1	2	3	0	1	5	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:153881743C>T	uc003inf.2	+	3	765	c.690C>T	c.(688-690)ggC>ggT	p.G230G		NM_033393	NP_203751	Q9C0D6	FHDC1_HUMAN	Homo sapiens FH2 domain containing 1 (FHDC1), mRNA.	230	FH2.				actin cytoskeleton organization		actin binding	p.G230G(2)	ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CGTTTAGTGGCGACGTGTCGA	0.373													T	153881743	C	T	153881743	2	4	253	1	0	0	0	0	0	0	0	1	5925	755	27	1		1	FHDC1	4	153881743	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	74480957	153881743	37272533	34	17694											
TLR3	7098	broad.mit.edu	37	chr4	187003807	187003807	+	Frame_Shift_Del	DEL	A	A	-																															actctttgcacgggcttttcAatgtgaggtacctgaatttg																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr4:187003807delA	uc003iyq.3	+	3	1068	c.967delA	c.(967-969)aatfs	p.N323fs	TLR3_uc011ckz.2_Frame_Shift_Del_p.N46fs|TLR3_uc003iyr.3_Frame_Shift_Del_p.N46fs	NM_003265	NP_003256	O15455	TLR3_HUMAN	Homo sapiens toll-like receptor 3 (TLR3), mRNA.	323					activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CGGGCTTTTCAATGTGAGGTA	0.368													-	187003807	A	-	187003807	7	5	253	1	0	1	0	1	0	0	0	0	16052	130	5	0	977	0	TLR3	4	187003807	Frame_Shift_Del	DEL	A	TCGA-74-6575-01A-11D-1845-08	33122064	187003807	4150469	35	17695											
PRDM9	56979	broad.mit.edu	37	chr5	23526688	23526688	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaataatggaagaagaGtccagaacaggccagaaagt	21	4	11	5	0	0	5	0	0	0	5	1	6	1	6	2	2	1	0	2	2	8	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526688G>C	uc003jgo.3	+	10	1673	c.1491G>C	c.(1489-1491)gaG>gaC	p.E497D		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	497					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGAAGAAGAGTCCAGAACAG	0.453										HNSCC(3;0.000094)			C	23526688	G	C	23526688	3	2	253	1	0	0	0	0	1	0	0	0	12549	1020	36	4	1529	4	PRDM9	5	23526688	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		23526688	157388572	36	17696											
PRDM9	56979	broad.mit.edu	37	chr5	23526750	23526750	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatttgtgggggtaggaaTctcaagaattgcaaaagtca	14	12	11	4	0	2	1	2	0	1	1	3	2	2	2	0	3	1	2	0	3	7	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:23526750T>A	uc003jgo.3	+	10	1735	c.1553T>A	c.(1552-1554)aTc>aAc	p.I518N		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	518					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGGTAGGAATCTCAAGAATT	0.433										HNSCC(3;0.000094)			A	23526750	T	A	23526750	3	1	253	1	0	0	0	0	1	0	0	0	12549	1435	50	5	1591	5	PRDM9	5	23526750	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	62	23526750	157388510	37	17697											
SPEF2	79925	broad.mit.edu	37	chr5	35740247	35740247	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagaacaagtttccaggagTttctaaagcgtccggatcac	13	9	9	10	2	2	1	1	0	1	1	4	3	4	3	2	2	2	2	2	2	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35740247T>A	uc003jjo.3	+	22	3319	c.3208T>A	c.(3208-3210)Ttt>Att	p.F1070I	SPEF2_uc003jjp.1_Missense_Mutation_p.F556I	NM_024867	NP_079143	Q9C093	SPEF2_HUMAN	Homo sapiens sperm flagellar 2 (SPEF2), transcript variant 1, mRNA.	1070					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)			TTTCCAGGAGTTTCTAAAGCG	0.388													A	35740247	T	A	35740247	3	1	253	1	0	0	0	0	1	0	0	0	15131	1725	60	5	3319	5	SPEF2	5	35740247	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	12213497	35740247	145175013	38	17698											
UGT3A1	133688	broad.mit.edu	37	chr5	35988627	35988627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaatctgagacacccGgtccaacagtaggtaatggc	13	8	11	9	1	1	3	0	2	1	2	2	4	2	3	2	3	1	2	2	3	5	3	rs150814543	by1000genomes	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:35988627G>A	uc003jjv.2	-	1	314	c.121C>T	c.(121-123)Cgg>Tgg	p.R41W	UGT3A1_uc003jjw.2_Non-coding_Transcript|UGT3A1_uc011coq.2_Missense_Mutation_p.R41W|UGT3A1_uc011cor.2_Intron|UGT3A1_uc003jjy.2_5'UTR	NM_152404	NP_689617	Q6NUS8	UD3A1_HUMAN	Homo sapiens UDP glycosyltransferase 3 family, polypeptide A1 (UGT3A1), transcript variant 1, mRNA.	41						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TGAGACACCCGGTCCAACAGT	0.378													A	35988627	G	A	35988627	3	1	253	1	0	0	0	0	1	0	0	0	17065	1115	39	1	1556	1	UGT3A1	5	35988627	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	248380	35988627	144926633	39	17699											
SLC1A3	6507	broad.mit.edu	37	chr5	36677194	36677194	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatgtgcttcggttttgtGattggaaacatgaaggaaca	11	13	11	6	1	0	2	0	2	0	0	2	4	1	4	1	3	3	2	1	3	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:36677194G>C	uc003jkj.4	+	5	1244	c.768G>C	c.(766-768)gtG>gtC	p.V256V	SLC1A3_uc011cox.2_Silent_p.V149V|SLC1A3_uc010iuy.3_Silent_p.V256V	NM_004172	NP_004163	P43003	EAA1_HUMAN	Homo sapiens solute carrier family 1 (glial high affinity glutamate transporter), member 3 (SLC1A3), transcript variant 1, mRNA.	256					D-aspartate import|L-glutamate import|neurotransmitter uptake	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(23)|skin(1)	41	all_lung(31;0.000245)		Epithelial(62;0.0444)|Lung(74;0.111)|all cancers(62;0.128)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)		L-Glutamic Acid(DB00142)	TCGGTTTTGTGATTGGAAACA	0.473													C	36677194	G	C	36677194	2	2	253	1	0	0	0	0	0	0	0	1	14527	1277	45	4		4	SLC1A3	5	36677194	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	688567	36677194	144238066	40	17700											
PIK3R1	5295	broad.mit.edu	37	chr5	67591259	67591261	+	In_Frame_Del	DEL	AAA	AAA	-																															gtttttcaggtggttgactcAaaaaggtgttcggcaaaaga																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67591259_67591261delAAA	uc003jva.3	+	13	2337_2339	c.1757_1759delAAA	c.(1756-1761)caaaaa>caa	p.K587del	PIK3R1_uc003jvc.3_In_Frame_Del_p.K287del|PIK3R1_uc003jvd.3_In_Frame_Del_p.K317del|PIK3R1_uc003jve.3_In_Frame_Del_p.K266del|PIK3R1_uc021xzn.1_In_Frame_Del_p.K224del|PIK3R1_uc011crb.2_In_Frame_Del_p.K257del	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	587					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(8)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGGTTGACTCAAAAAGGTGTTCG	0.355			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591261	AAA	-	67591259	7	5	253	1	0	1	0	1	0	0	0	0	11995	130	5	0	1937	0	PIK3R1	5	67591259	In_Frame_Del	DEL	AAA	TCGA-74-6575-01A-11D-1845-08	30914065	67591259	113324001	41	17701											
PIK3R1	5295	broad.mit.edu	37	chr5	67593227	67593245	+	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	CTCTCCTCTCTAGGGTGGA	-																															ctcaaaagacagtttttcttCtctcctctctagggtggacg																								rs143771559	by1000genomes	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:67593227_67593245delCTCTCCTCTCTAGGGTGGA	uc003jva.3	+	16	2566	c.1986_splice	c.e16-1	p.V662_splice	PIK3R1_uc003jvc.3_Splice_Site_p.V362_splice|PIK3R1_uc003jvd.3_Splice_Site_p.V392_splice|PIK3R1_uc003jve.3_Splice_Site_p.V341_splice|PIK3R1_uc021xzn.1_Splice_Site_p.V299_splice	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	662	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGTTTTTCTTCTCTCCTCTCTAGGGTGGACGGCGAAGTA	0.429			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67593245	CTCTCCTCTCTAGGGTGGA	-	67593227	8	5	253	1	0	1	0	1	0	0	1	0	11995	928	32	0		0	PIK3R1	5	67593227	Splice_Site	DEL	CTCTCCTCTCTAGGGTGGA	TCGA-74-6575-01A-11D-1845-08	1968	67593227	113322033	42	17702											
MCTP1	79772	broad.mit.edu	37	chr5	94044306	94044306	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgaagcttttttgtaaattTattgatgcctgaaacaaagt	13	15	7	6	1	0	2	0	2	0	0	0	3	0	2	2	0	3	2	2	0	6	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:94044306T>A	uc003kkx.2	-	21	2839	c.2839A>T	c.(2839-2841)Aaa>Taa	p.K947*	MCTP1_uc003kkv.2_Nonsense_Mutation_p.K726*|MCTP1_uc003kkw.2_Nonsense_Mutation_p.K640*|MCTP1_uc003kku.2_Nonsense_Mutation_p.K463*	NM_024717	NP_078993	Q6DN14	MCTP1_HUMAN	Homo sapiens multiple C2 domains, transmembrane 1 (MCTP1), transcript variant L, mRNA.	947					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TTTGTAAATTTATTGATGCCT	0.353													A	94044306	T	A	94044306	4	1	253	1	0	0	0	0	0	1	0	0	9475	1763	61	5	168	5	MCTP1	5	94044306	Nonsense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	26451079	94044306	86870954	43	17703											
CHD1	1105	broad.mit.edu	37	chr5	98192335	98192335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgagaacgatgatcagaatGagatctatcttttaaacttc	14	13	8	6	1	3	4	1	3	2	3	4	7	3	4	0	0	2	0	0	0	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:98192335G>A	uc003knf.3	-	34	5030	c.4882C>T	c.(4882-4884)Cat>Tat	p.H1628Y	CHD1_uc010jbn.3_Missense_Mutation_p.H354Y	NM_001270	NP_001261	O14646	CHD1_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 1 (CHD1), mRNA.	1628	3 X 5 AA repeats of H-S-D-H-R.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TGATCAGAATGAGATCTATCT	0.383													A	98192335	G	A	98192335	3	1	253	1	0	0	0	0	1	0	0	0	3353	1290	45	2	254	2	CHD1	5	98192335	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	4148029	98192335	82722925	44	17704											
PCDHAC2	56139	broad.mit.edu	37	chr5	140235776	140235776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcgtgggccgcatcgCgcaggacctggggctggagc	5	6	16	14	4	0	0	0	0	0	0	2	2	0	2	3	5	1	3	3	5	0	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140235776C>T	uc003lhx.2	+	0	143	c.143C>T	c.(142-144)gCg>gTg	p.A48V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Missense_Mutation_p.A48V|PCDHAC2_uc011dad.2_Missense_Mutation_p.A48V	NM_018901	NP_061724	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 10 (PCDHA10), transcript variant 1, mRNA.	62	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCCGCATCGCGCAGGACCTG	0.652													T	140235776	C	T	140235776	3	4	253	1	0	0	0	0	1	0	0	0	11609	768	27	1		1	PCDHAC2	5	140235776	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	42043441	140235776	40679484	45	17705											
PCDHAC2	56135	broad.mit.edu	37	chr5	140307515	140307515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggacttcctgactctttcGaacccagtacctgaggacgc	8	10	9	14	2	1	2	0	2	1	0	3	5	2	4	3	2	2	1	3	2	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140307515G>A	uc003lih.2	+	0	1214	c.1038G>A	c.(1036-1038)tcG>tcA	p.S346S	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lif.2_Intron|PCDHAC2_uc003lie.1_Intron|PCDHAC2_uc003lig.1_Silent_p.S346S	NM_018898	NP_061721	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha subfamily C, 1 (PCDHAC1), transcript variant 1, mRNA.	371	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.S346S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACTCTTTCGAACCCAGTAC	0.517													A	140307515	G	A	140307515	2	1	253	1	0	0	0	0	0	0	0	1	11609	1045	37	1		1	PCDHAC2	5	140307515	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	71739	140307515	40607745	46	17706											
PCDHGC5	56101	broad.mit.edu	37	chr5	140778096	140778096	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacacgccaaaattcacGcaaaattcctttgagctgca	14	8	6	13	2	1	1	1	1	0	0	2	2	2	1	3	0	2	3	3	0	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:140778096G>A	uc003lkf.2	+	0	402	c.402G>A	c.(400-402)acG>acA	p.T134T	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc003ljm.2_Intron|PCDHGC5_uc003ljo.2_Intron|PCDHGC5_uc003ljq.2_Intron|PCDHGC5_uc003ljs.2_Intron|PCDHGC5_uc003lju.2_Intron|PCDHGC5_uc003ljw.2_Intron|PCDHGC5_uc003ljy.2_Intron|PCDHGC5_uc003lka.2_Intron|PCDHGC5_uc003lkc.2_Intron|PCDHGC5_uc003lkd.2_Intron|PCDHGC5_uc011daw.2_Silent_p.T134T	NM_018925	NP_061748	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily B, 5 (PCDHGB5), transcript variant 1, mRNA.	134	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAAAATTCACGCAAAATTCCT	0.423													A	140778096	G	A	140778096	2	1	253	1	0	0	0	0	0	0	0	1	11647	1074	38	1		1	PCDHGC5	5	140778096	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	470581	140778096	40137164	47	17707											
GABRA6	2559	broad.mit.edu	37	chr5	161128666	161128666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttggaggcaccagtaaaAtagaccagtattctcgaatt	13	11	8	9	1	1	1	0	0	1	1	2	3	1	2	3	2	0	3	3	2	5	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr5:161128666A>G	uc003lyu.2	+	8	1587	c.1249A>G	c.(1249-1251)Ata>Gta	p.I417V	GABRA6_uc003lyv.2_Missense_Mutation_p.I188V	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CACCAGTAAAATAGACCAGTA	0.468										TCGA Ovarian(5;0.080)			G	161128666	A	G	161128666	3	3	253	1	0	0	0	0	1	0	0	0	6217	101	4	3	1283	3	GABRA6	5	161128666	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	20350570	161128666	19786594	48	17708											
DSP	1832	broad.mit.edu	37	chr6	7584328	7584328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggcatttatgaggccaTgaaaattggcttagtccgac	10	12	11	8	1	0	2	0	2	0	0	1	3	1	2	2	3	0	3	2	3	4	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr6:7584328T>C	uc003mxp.1	+	23	7112	c.6833T>C	c.(6832-6834)aTg>aCg	p.M2278T	DSP_uc003mxq.1_Missense_Mutation_p.M1679T|DSP_uc021yle.1_Missense_Mutation_p.M1835T	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	2278	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TATGAGGCCATGAAAATTGGC	0.473													C	7584328	T	C	7584328	3	2	253	1	0	0	0	0	1	0	0	0	4820	1464	51	3	6927	3	DSP	6	7584328	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08		7584328	163530739	49	17709											
DNAH11	8701	broad.mit.edu	37	chr7	21609750	21609750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagaagagtcactggaaaagGtgcaggtggctgttaacatc	13	9	13	6	0	1	2	1	0	0	2	2	3	1	3	0	4	2	3	0	4	5	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:21609750G>T	uc003svc.3	+	6	1289	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	420	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ACTGGAAAAGGTGCAGGTGGC	0.383									Kartagener syndrome				T	21609750	G	T	21609750	3	4	253	1	0	0	0	0	1	0	0	0	4638	1261	44	4	1284	4	DNAH11	7	21609750	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		21609750	137528913	50	17710											
NPC1L1	29881	broad.mit.edu	37	chr7	44578753	44578753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtagctggaccggttagGagccgtcaggatcacctggt	7	9	14	11	2	2	0	2	0	0	0	2	3	2	3	4	5	2	3	4	5	2	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:44578753G>T	uc003tlb.3	-	1	1299	c.1243C>A	c.(1243-1245)Cct>Act	p.P415T	NPC1L1_uc011kbw.2_Missense_Mutation_p.P415T|NPC1L1_uc003tlc.3_Missense_Mutation_p.P415T|NPC1L1_uc003tld.3_Missense_Mutation_p.P415T	NM_013389	NP_037521	Q9UHC9	NPCL1_HUMAN	Homo sapiens NPC1 (Niemann-Pick disease, type C1, gene)-like 1 (NPC1L1), transcript variant 1, mRNA.	415					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GACCGGTTAGGAGCCGTCAGG	0.592													T	44578753	G	T	44578753	3	4	253	1	0	0	0	0	1	0	0	0	10647	1174	41	4	2912	4	NPC1L1	7	44578753	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	22969003	44578753	114559910	51	17711											
LANCL2	55915	broad.mit.edu	37	chr7	55467774	55467774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagataggtccaggcaccGtgtgtgagtcagctattaaa	12	9	12	8	1	1	2	1	1	0	1	2	3	2	2	2	2	1	2	2	2	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:55467774G>A	uc003tqp.3	+	3	1233	c.655G>A	c.(655-657)Gtg>Atg	p.V219M		NM_018697	NP_061167	Q9NS86	LANC2_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 2 (bacterial) (LANCL2), mRNA.	219					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding	p.V219M(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			TCCAGGCACCGTGTGTGAGTC	0.458													A	55467774	G	A	55467774	3	1	253	1	0	0	0	0	1	0	0	0	8680	1145	40	1	669	1	LANCL2	7	55467774	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	10889021	55467774	103670889	52	17712											
SEMA3C	10512	broad.mit.edu	37	chr7	80374224	80374224	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatattatgactctggcaActgattcctcctgtttctac	11	15	5	10	0	2	2	0	2	2	0	4	2	4	2	2	1	2	2	2	1	6	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:80374224A>G	uc011kgw.2	-	17	2375	c.2296T>C	c.(2296-2298)Ttg>Ctg	p.L766L	SEMA3C_uc003uhj.3_Silent_p.L748L	NM_006379	NP_006370	Q99985	SEM3C_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C (SEMA3C), mRNA.	748					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GACTCTGGCAACTGATTCCTC	0.393													G	80374224	A	G	80374224	2	3	253	1	0	0	0	0	0	0	0	1	14119	40	2	3		3	SEMA3C	7	80374224	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	24906450	80374224	78764439	53	17713											
KIAA1324L	222223	broad.mit.edu	37	chr7	86521207	86521207	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatatttgtattccagtcTaaatagtgataaaataaata	18	14	6	3	0	1	1	0	1	1	0	2	2	2	2	1	1	0	1	1	1	11	9			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:86521207T>A	uc011kha.2	-	21	3050	c.2865_splice	c.e21-1	p.K955_splice	KIAA1324L_uc003uie.3_Splice_Site_p.K788_splice|KIAA1324L_uc011kgz.2_Splice_Site_p.K841_splice|KIAA1324L_uc003uif.2_Splice_Site_p.K707_splice	NM_001142749	NP_001136221	A8MWY0	K132L_HUMAN	Homo sapiens KIAA1324-like (KIAA1324L), transcript variant 1, mRNA.	955						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					TATTCCAGTCTAAATAGTGAT	0.303													A	86521207	T	A	86521207	5	1	253	1	0	0	0	0	0	0	1	0	8282	1536	53	5	234	5	KIAA1324L	7	86521207	Splice_Site	SNP	T	TCGA-74-6575-01A-11D-1845-08	6146983	86521207	72617456	54	17714											
COL1A2	1278	broad.mit.edu	37	chr7	94042435	94042435	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgataaaggtcatgctggtcTtgctggtgctcgggtaggtg	6	13	16	6	1	2	1	1	1	1	0	3	1	2	1	0	5	3	4	0	5	3	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:94042435T>A	uc003ung.1	+	25	2015	c.1544T>A	c.(1543-1545)cTt>cAt	p.L515H	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	515					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CATGCTGGTCTTGCTGGTGCT	0.368										HNSCC(75;0.22)			A	94042435	T	A	94042435	3	1	253	1	0	0	0	0	1	0	0	0	3709	1609	56	5	1646	5	COL1A2	7	94042435	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	7521228	94042435	65096228	55	17715											
WNT2	7472	broad.mit.edu	37	chr7	116955387	116955387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagatggcataaacaaagGcagattcccgactacctgaa	16	6	10	9	1	0	3	0	1	0	2	1	5	1	3	2	3	2	2	2	3	5	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:116955387G>T	uc003viz.3	-	2	626	c.326C>A	c.(325-327)gCc>gAc	p.A109D	WNT2_uc003vja.3_Intron	NM_003391	NP_003382	P09544	WNT2_HUMAN	Homo sapiens wingless-type MMTV integration site family member 2 (WNT2), transcript variant 1, mRNA.	109					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ATAAACAAAGGCAGATTCCCG	0.403													T	116955387	G	T	116955387	3	4	253	1	0	0	0	0	1	0	0	0	17488	1203	42	4	768	4	WNT2	7	116955387	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	22912952	116955387	42183276	56	17716											
HYAL4	23553	broad.mit.edu	37	chr7	123508674	123508674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggtctcccacagaacaTaagtttacaagtacatctgg	13	10	9	9	0	2	1	0	0	2	1	3	2	2	2	1	3	3	2	1	3	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:123508674T>C	uc003vlc.3	+	2	985	c.347T>C	c.(346-348)aTa>aCa	p.I116T	HYAL4_uc011knz.2_Missense_Mutation_p.I116T	NM_012269	NP_036401	Q2M3T9	HYAL4_HUMAN	Homo sapiens hyaluronoglucosaminidase 4 (HYAL4), mRNA.	116					fusion of sperm to egg plasma membrane|glycosaminoglycan catabolic process	integral to membrane	hyalurononglucosaminidase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	23						CCACAGAACATAAGTTTACAA	0.393													C	123508674	T	C	123508674	3	2	253	1	0	0	0	0	1	0	0	0	7524	1406	49	3	349	3	HYAL4	7	123508674	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	6553287	123508674	35629989	57	17717											
PLXNA4	91584	broad.mit.edu	37	chr7	131865369	131865369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttgtgcctgccgatgagGttgggggactcgcagagcag	7	9	16	9	2	0	2	0	1	0	1	1	4	0	3	2	3	3	3	2	3	0	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr7:131865369G>A	uc003vra.4	-	18	3844	c.3615C>T	c.(3613-3615)aaC>aaT	p.N1205N		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1205	IPT/TIG 4.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCCGATGAGGTTGGGGGACT	0.602													A	131865369	G	A	131865369	2	1	253	1	0	0	0	0	0	0	0	1	12199	1252	44	2		2	PLXNA4	7	131865369	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	8356695	131865369	27273294	58	17718											
PLAT	5327	broad.mit.edu	37	chr8	42036566	42036566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcctccttcagccgctccGaatagaaaggagacactgaa	13	6	10	12	2	1	3	1	1	0	2	3	6	3	3	4	1	2	1	4	1	4	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:42036566G>A	uc003xos.2	-	12	1588	c.1379C>T	c.(1378-1380)tCg>tTg	p.S460L	PLAT_uc010lxf.1_Missense_Mutation_p.S377L|PLAT_uc010lxg.1_Missense_Mutation_p.S285L|PLAT_uc003xot.2_Missense_Mutation_p.S414L|PLAT_uc011lcm.1_Missense_Mutation_p.S371L|PLAT_uc011lcn.1_Missense_Mutation_p.S334L	NM_000930	NP_000921	P00750	TPA_HUMAN	Homo sapiens plasminogen activator, tissue (PLAT), transcript variant 1, mRNA.	460	Peptidase S1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CAGCCGCTCCGAATAGAAAGG	0.423													A	42036566	G	A	42036566	3	1	253	1	0	0	0	0	1	0	0	0	12098	1059	37	1	317	1	PLAT	8	42036566	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		42036566	104327456	59	17719											
RP1	6101	broad.mit.edu	37	chr8	55533600	55533600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaagttccaccccctcGccatttgagcctcactcatc	8	10	6	17	1	3	1	3	1	0	0	6	1	4	1	5	1	1	1	5	1	1	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:55533600G>A	uc003xsd.1	+	1	222	c.74G>A	c.(73-75)cGc>cAc	p.R25H	RP1_uc011ldy.1_Missense_Mutation_p.R25H	NM_006269	NP_006260	P56715	RP1_HUMAN	Homo sapiens retinitis pigmentosa 1 (autosomal dominant) (RP1), mRNA.	25					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCACCCCCTCGCCATTTGAGC	0.517													A	55533600	G	A	55533600	3	1	253	1	0	0	0	0	1	0	0	0	13623	1087	38	1	76	1	RP1	8	55533600	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	13497034	55533600	90830422	60	17720											
NCOA2	10499	broad.mit.edu	37	chr8	71057034	71057034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatgtcaagtggtaaattCtggtttggcaataacctgcc	10	13	11	7	0	2	1	1	1	1	0	2	1	2	1	2	3	2	3	2	3	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr8:71057034C>G	uc003xyn.1	-	12	2817	c.2655G>C	c.(2653-2655)caG>caC	p.Q885H	NCOA2_uc011lfb.1_Intron	NM_006540	NP_006531	Q15596	NCOA2_HUMAN	Homo sapiens nuclear receptor coactivator 2 (NCOA2), mRNA.	885					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GTGGTAAATTCTGGTTTGGCA	0.423			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								G	71057034	C	G	71057034	3	3	253	1	0	0	0	0	1	0	0	0	10305	912	32	4	1783	4	NCOA2	8	71057034	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	15523434	71057034	75306988	61	17721											
TTC39B	158219	broad.mit.edu	37	chr9	15214139	15214139	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagacaaagtaaattaccaGgggcgaagcaattctaaggc	17	6	11	7	1	1	1	0	0	1	1	1	3	1	1	1	3	2	2	1	3	7	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:15214139G>C	uc003zlr.2	-	3	517	c.480C>G	c.(478-480)ccC>ccG	p.P160P	TTC39B_uc003zlq.2_Silent_p.P63P|TTC39B_uc011lmp.2_5'UTR|TTC39B_uc010mie.2_Silent_p.P160P|TTC39B_uc011lmr.2_Intron|TTC39B_uc011lmq.2_Silent_p.P160P|TTC39B_uc010mif.2_Silent_p.P160P|TTC39B_uc003zls.1_5'UTR|TTC39B_uc010mig.1_Silent_p.P63P|TTC39B_uc011lms.2_Non-coding_Transcript	NM_152574	NP_001161814	Q5VTQ0	TT39B_HUMAN	Homo sapiens tetratricopeptide repeat domain 39B (TTC39B), transcript variant 1, mRNA.	94							binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						TAAATTACCAGGGGCGAAGCA	0.373													C	15214139	G	C	15214139	2	2	253	1	0	0	0	0	0	0	0	1	16810	987	35	4		4	TTC39B	9	15214139	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		15214139	125999292	62	17722											
PTPN3	5774	broad.mit.edu	37	chr9	112200417	112200417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgctcatgcagagattcGacttttgttaaaaagtcctc	10	14	8	9	1	1	1	1	0	0	1	4	3	2	1	1	0	3	4	1	0	3	4	rs148263399		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:112200417G>A	uc004bed.2	-	7	676	c.564C>T	c.(562-564)gtC>gtT	p.V188V	PTPN3_uc004beb.2_Silent_p.V57V|PTPN3_uc004bec.2_Silent_p.V57V|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Silent_p.V188V|PTPN3_uc011lwh.1_Silent_p.V79V	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	188	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCAGAGATTCGACTTTTGTTA	0.438													A	112200417	G	A	112200417	2	1	253	1	0	0	0	0	0	0	0	1	12877	1045	37	1		1	PTPN3	9	112200417	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	96986278	112200417	29013014	63	17723											
CRAT	1384	broad.mit.edu	37	chr9	131864744	131864744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgaagttgctgactgTgtcctgcttggggcccggca	4	12	14	11	1	0	2	0	2	0	0	1	2	1	2	2	3	3	5	2	3	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:131864744T>C	uc004bxh.3	-	4	847	c.565A>G	c.(565-567)Aca>Gca	p.T189A	CRAT_uc004bxk.4_Missense_Mutation_p.T168A	NM_000755	NP_000746	P43155	CACP_HUMAN	Homo sapiens carnitine O-acetyltransferase (CRAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	189					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	TTGCTGACTGTGTCCTGCTTG	0.617													C	131864744	T	C	131864744	3	2	253	1	0	0	0	0	1	0	0	0	3878	1696	59	3	1355	3	CRAT	9	131864744	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	19664327	131864744	9348687	64	17724											
POMT1	10585	broad.mit.edu	37	chr9	134394274	134394274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatcggcaactggagatcgtCggggagaagctgtcccgggg	8	7	17	9	4	0	2	0	0	0	2	4	4	1	2	1	6	2	2	1	6	3	1	rs139687326	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:134394274C>T	uc004cav.3	+	14	1684	c.1482C>T	c.(1480-1482)gtC>gtT	p.V494V	POMT1_uc004cax.3_Silent_p.V472V|POMT1_uc011mcj.2_Silent_p.V250V|POMT1_uc004cau.3_Silent_p.V472V|POMT1_uc004caw.3_Silent_p.V418V|POMT1_uc011mck.2_Silent_p.V355V|POMT1_uc011mcl.2_Silent_p.V320V|POMT1_uc011mcm.2_Silent_p.V442V	NM_007171	NP_009102	Q9Y6A1	POMT1_HUMAN	Homo sapiens protein-O-mannosyltransferase 1 (POMT1), transcript variant 1, mRNA.	494	MIR 3.				multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		TGGAGATCGTCGGGGAGAAGC	0.677													T	134394274	C	T	134394274	2	4	253	1	0	0	0	0	0	0	0	1	12322	871	31	1		1	POMT1	9	134394274	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2529530	134394274	6819157	65	17725											
COL5A1	1289	broad.mit.edu	37	chr9	137704532	137704532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcccccaggtggaataGgaaaccctggtgcagtggga	11	6	15	9	0	0	0	0	0	0	0	1	3	1	3	3	6	2	1	3	6	4	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:137704532G>A	uc004cfe.3	+	47	4208	c.3826G>A	c.(3826-3828)Gga>Aga	p.G1276R		NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1276	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGTGGAATAGGAAACCCTGG	0.627													A	137704532	G	A	137704532	3	1	253	1	0	0	0	0	1	0	0	0	3727	1001	35	2	4016	2	COL5A1	9	137704532	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	3310258	137704532	3508899	66	17726											
LCN6	158062	broad.mit.edu	37	chr9	139639655	139639655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgaagggctcgtcccCgaactccagctgagtgaaga	9	8	14	10	2	0	4	0	3	0	1	3	5	2	4	3	2	2	3	3	2	3	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr9:139639655C>T	uc004ciy.2	-	3	424	c.379G>A	c.(379-381)Ggg>Agg	p.G127R	LCN10_uc004civ.3_5'Flank|LCN10_uc010nbq.3_5'Flank|LCN10_uc011mee.2_5'Flank|LCN10_uc011mef.2_5'Flank|LCN10_uc011med.2_5'Flank|LCN10_uc004ciw.3_Non-coding_Transcript|LOC100128593_uc004ciz.1_5'Flank	NM_198946	NP_945184	P62502	LCN6_HUMAN	Homo sapiens lipocalin 6 (LCN6), mRNA.	127					single fertilization	extracellular region	binding			lung(3)|upper_aerodigestive_tract(1)	4	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.32e-06)|Epithelial(140;7.83e-05)		GGCTCGTCCCCGAACTCCAGC	0.607													T	139639655	C	T	139639655	3	4	253	1	0	0	0	0	1	0	0	0	8744	652	23	1	120	1	LCN6	9	139639655	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	1935123	139639655	1573776	67	17727											
C11orf35	256329	broad.mit.edu	37	chr11	556905	556905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgcggtggtcccggggCgggtgccctatcacctgcac	5	6	16	14	4	1	0	1	0	0	0	2	1	2	0	3	5	3	1	3	5	2	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:556905C>T	uc001lpx.3	-	7	969	c.906G>A	c.(904-906)ccG>ccA	p.P302P	AX748330_uc001lpy.3_5'Flank|BC031953_uc001lpz.3_5'Flank	NM_173573	NP_775844	Q8IXW0	CK035_HUMAN	Homo sapiens chromosome 11 open reading frame 35 (C11orf35), mRNA.	302										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTCCCGGGGCGGGTGCCCTA	0.697													T	556905	C	T	556905	2	4	253	1	0	0	0	0	0	0	0	1	1650	755	27	1		1	C11orf35	11	556905	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08		556905	134449611	68	17728											
MUC5B	727897	broad.mit.edu	37	chr11	1156628	1156628	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctctgtggggacttcaaCgggatgcccgtggtcagcga	6	8	17	10	3	3	0	2	0	1	0	3	3	3	2	1	5	3	1	1	5	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:1156628C>T	uc021qbr.1	+	5	692	c.645C>T	c.(643-645)aaC>aaT	p.N215N				Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	211	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding	p.P214Q(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGGACTTCAACGGGATGCCCG	0.617													T	1156628	C	T	1156628	2	4	253	1	0	0	0	0	0	0	0	1	10055	551	19	1		1	MUC5B	11	1156628	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	599723	1156628	133849888	69	17729											
SERPING1	710	broad.mit.edu	37	chr11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-																															ggctgaccctgctgaccctcCtgctgctgctgctggctggg																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:57365774_57365776delCTG	uc001nkp.1	+	1	222_224	c.31_33delCTG	c.(31-33)ctgdel	p.L15del	SERPING1_uc010rju.1_Intron|SERPING1_uc010rjv.1_In_Frame_Del_p.L15del|SERPING1_uc001nkr.1_In_Frame_Del_p.L15del|SERPING1_uc001nks.1_5'UTR	NM_000062	NP_001027466	P05155	IC1_HUMAN	Homo sapiens serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 (SERPING1), transcript variant 1, mRNA.	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													-	57365776	CTG	-	57365774	7	5	253	1	0	1	0	1	0	0	0	0	14209	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-74-6575-01A-11D-1845-08	56209146	57365774	77640742	70	17730											
C11orf2	738	broad.mit.edu	37	chr11	64876819	64876819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccactctatgtgccagaCggctcagagcttctgcgaca	8	9	10	14	3	3	2	1	0	2	2	4	3	4	2	2	1	3	2	2	1	1	2	rs140677028		TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:64876819C>T	uc001ocr.1	+	5	1551	c.1511C>T	c.(1510-1512)aCg>aTg	p.T504M	TM7SF2_uc001oct.3_5'Flank|TM7SF2_uc010rny.2_5'Flank|TM7SF2_uc001ocu.3_5'Flank|TM7SF2_uc001ocv.3_5'Flank|C11orf2_uc001ocs.1_Missense_Mutation_p.T380M	NM_013265	NP_037397	Q9UID3	FFR_HUMAN	Homo sapiens chromosome 11 open reading frame 2 (C11orf2), mRNA.	504					lipid transport|protein transport	Golgi apparatus|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|prostate(1)	15						ATGTGCCAGACGGCTCAGAGC	0.647													T	64876819	C	T	64876819	3	4	253	1	0	0	0	0	1	0	0	0	1644	536	19	1	1533	1	C11orf2	11	64876819	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	7511045	64876819	70129697	71	17731											
DYNC2H1	79659	broad.mit.edu	37	chr11	102988581	102988581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttgacaaacttggcaaaCgccttgaagaggtatcaatt	14	10	8	9	1	1	3	1	2	0	1	1	3	1	3	1	2	2	2	1	2	5	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:102988581C>T	uc001phn.1	+	5	1132	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	DYNC2H1_uc009yxe.1_Missense_Mutation_p.R330C|DYNC2H1_uc001pho.2_Missense_Mutation_p.R330C	NM_001080463	NP_001073932	Q8NCM8	DYHC2_HUMAN	Homo sapiens dynein, cytoplasmic 2, heavy chain 1 (DYNC2H1), transcript variant 2, mRNA.	330	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ACTTGGCAAACGCCTTGAAGA	0.333													T	102988581	C	T	102988581	3	4	253	1	0	0	0	0	1	0	0	0	4885	536	19	1	1010	1	DYNC2H1	11	102988581	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	38111762	102988581	32017935	72	17732											
TECTA	7007	broad.mit.edu	37	chr11	120998519	120998519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcacaagcagctgcccCgacacatgctccgacctgac	9	6	10	16	2	0	1	0	1	0	0	1	3	1	1	4	0	5	4	4	0	1	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:120998519C>T	uc010rzo.2	+	7	1833	c.1833C>T	c.(1831-1833)ccC>ccT	p.P611P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	611	TIL 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GCAGCTGCCCCGACACATGCT	0.637													T	120998519	C	T	120998519	2	4	253	1	0	0	0	0	0	0	0	1	15847	639	23	1		1	TECTA	11	120998519	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	18009938	120998519	14007997	73	17733											
TECTA	7007	broad.mit.edu	37	chr11	121031074	121031074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttgcgagggaagccGgtggtaagcagcgtggtgct	7	8	18	8	3	0	1	0	1	0	0	0	3	0	2	2	4	5	3	2	4	2	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr11:121031074G>A	uc010rzo.2	+	13	4920	c.4920G>A	c.(4918-4920)ccG>ccA	p.P1640P		NM_005422	NP_005413	O75443	TECTA_HUMAN	Homo sapiens tectorin alpha (TECTA), mRNA.	1640	VWFD 4.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGGAAGCCGGTGGTAAGCA	0.542													A	121031074	G	A	121031074	2	1	253	1	0	0	0	0	0	0	0	1	15847	1103	39	1		1	TECTA	11	121031074	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	32555	121031074	13975442	74	17734											
TAS2R10	50839	broad.mit.edu	37	chr12	10978396	10978396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagatcccagactgtgtcaTtcttcgttttataatcatta	10	17	6	8	1	3	2	2	1	1	2	5	3	4	2	1	0	0	1	1	0	3	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:10978396T>C	uc001qyy.1	-	0	473	c.473A>G	c.(472-474)aAt>aGt	p.N158S		NM_023921	NP_076410	Q9NYW0	T2R10_HUMAN	Homo sapiens taste receptor, type 2, member 10 (TAS2R10), mRNA.	158					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GACTGTGTCATTCTTCGTTTT	0.299													C	10978396	T	C	10978396	3	2	253	1	0	0	0	0	1	0	0	0	15663	1493	52	3	454	3	TAS2R10	12	10978396	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08		10978396	122873499	75	17735											
GRIN2B	2904	broad.mit.edu	37	chr12	13720091	13720091	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggccgcccccaacatgtaGaagacccctgccatgttgtc	9	8	9	15	1	0	2	0	0	0	2	1	2	0	2	6	1	2	2	6	1	3	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:13720091G>C	uc001rbt.2	-	11	2645	c.2466C>G	c.(2464-2466)ttC>ttG	p.F822L		NM_000834	NP_000825	Q13224	NMDE2_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2B (GRIN2B), mRNA.	822					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCAACATGTAGAAGACCCCTG	0.507													C	13720091	G	C	13720091	3	2	253	1	0	0	0	0	1	0	0	0	6835	933	33	4	1996	4	GRIN2B	12	13720091	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	2741695	13720091	120131804	76	17736											
MTERFD3	80298	broad.mit.edu	37	chr12	107371558	107371559	+	Frame_Shift_Ins	INS	-	-	AT																															ctctcttatctgagctatggINSaaattccttctctcaataat																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:107371558_107371559insAT	uc001tme.1	-	1	2753_2754	c.934_935insAT	c.(934-936)tccfs	p.S312fs	MTERFD3_uc001tmf.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmg.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc021rdh.1_Frame_Shift_Ins_p.S312fs|MTERFD3_uc001tmh.1_Frame_Shift_Ins_p.S312fs	NM_025198	NP_079474	Q49AM1	MTER3_HUMAN	Homo sapiens MTERF domain containing 3 (MTERFD3), transcript variant 2, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						CTGAGCTATGGAAATTCCTTCT	0.371													AT	107371559	-	AT	107371558	7	5	253	1	0	1	1	0	0	0	0	0	9997	1174	41	0	226	0	MTERFD3	12	107371558	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08	93651467	107371558	26480337	77	17737											
PTPN11	5781	broad.mit.edu	37	chr12	112888189	112888189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actatgacctgtatggagggGagaaatttgccactttggct	10	12	12	7	0	0	2	0	1	0	1	0	4	0	3	2	4	1	2	2	4	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:112888189G>A	uc001ttx.3	+	2	585	c.205G>A	c.(205-207)Gag>Aag	p.E69K	PTPN11_uc001ttw.1_Missense_Mutation_p.E69K	NM_002834	NP_002825	Q06124	PTN11_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 11 (PTPN11), mRNA.	69	SH2 1.		E -> K (in JMML; also in myelodysplastic syndrome).|E -> Q (in NS1).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.E69K(33)|p.E69V(1)|p.E69G(1)|p.E69D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GTATGGAGGGGAGAAATTTGC	0.428			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112888189	G	A	112888189	3	1	253	1	0	0	0	0	1	0	0	0	12866	1175	41	2	215	2	PTPN11	12	112888189	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5516631	112888189	20963706	78	17738											
KSR2	283455	broad.mit.edu	37	chr12	117993006	117993006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggttttggggagcgtctGactgatgtgcaggtctgaat	6	14	16	5	1	2	3	0	3	2	0	2	4	2	4	0	4	2	3	0	4	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:117993006G>C	uc001two.2	-	8	1454	c.1399C>G	c.(1399-1401)Cag>Gag	p.Q467E		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	496					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGGAGCGTCTGACTGATGTGC	0.577													C	117993006	G	C	117993006	3	2	253	1	0	0	0	0	1	0	0	0	8641	1299	45	4	1414	4	KSR2	12	117993006	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5104817	117993006	15858889	79	17739											
GOLGA3	2802	broad.mit.edu	37	chr12	133373156	133373156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgctccagggatgccgccGagtccgccatcctctgcagc	5	7	12	17	3	1	0	0	0	1	0	4	2	4	1	6	1	4	3	6	1	0	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr12:133373156G>A	uc001ukz.1	-	9	2628	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	GOLGA3_uc021rgt.1_Non-coding_Transcript|GOLGA3_uc001ula.1_Missense_Mutation_p.S690L|GOLGA3_uc001ulb.3_Missense_Mutation_p.S690L	NM_005895	NP_005886	Q08378	GOGA3_HUMAN	Homo sapiens golgin A3 (GOLGA3), transcript variant 1, mRNA.	690	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGATGCCGCCGAGTCCGCCAT	0.622													A	133373156	G	A	133373156	3	1	253	1	0	0	0	0	1	0	0	0	6610	1059	37	1	2625	1	GOLGA3	12	133373156	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	15380150	133373156	478739	80	17740											
TUBA3C	7278	broad.mit.edu	37	chr13	19751438	19751438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgatctgcccaatcaggcGattgaggttggtgtacgtgg	8	10	14	9	3	2	1	1	1	1	0	2	3	2	1	1	4	2	2	1	4	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:19751438G>A	uc009zzj.3	-	3	790	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_006001	NP_525125	Q13748	TBA3C_HUMAN	Homo sapiens tubulin, alpha 3c (TUBA3C), mRNA.	229					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R229>?(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCAATCAGGCGATTGAGGTTG	0.547													A	19751438	G	A	19751438	3	1	253	1	0	0	0	0	1	0	0	0	16848	1058	37	1	675	1	TUBA3C	13	19751438	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08		19751438	95418440	81	17741											
PAN3	255967	broad.mit.edu	37	chr13	28794483	28794483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttctctcacccatccaTgggaagccctgctactgctg	7	12	8	14	0	2	0	1	0	1	0	4	1	3	1	3	1	4	3	3	1	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr13:28794483T>C	uc001urz.3	+	5	1120	c.968T>C	c.(967-969)aTg>aCg	p.M323T	PAN3_uc010tdo.1_Missense_Mutation_p.M323T|PAN3_uc001ury.3_5'UTR|PAN3_uc001urx.3_Missense_Mutation_p.M123T	NM_175854	NP_787050	Q58A45	PAN3_HUMAN	Homo sapiens PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae) (PAN3), mRNA.	323	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		CACCCATCCATGGGAAGCCCT	0.448													C	28794483	T	C	28794483	3	2	253	1	0	0	0	0	1	0	0	0	11491	1464	51	3	990	3	PAN3	13	28794483	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	9043045	28794483	86375395	82	17742											
OR4M1	441670	broad.mit.edu	37	chr14	20248896	20248896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaccatcatgaatcgaCgtctctgctgtatcctggtg	8	13	9	11	2	2	1	1	1	1	0	5	2	3	1	2	1	3	3	2	1	3	2	rs148303756	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:20248896C>T	uc010tku.2	+	0	415	c.415C>T	c.(415-417)Cgt>Tgt	p.R139C		NM_001005500	NP_001005500	Q8NGD0	OR4M1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily M, member 1 (OR4M1), mRNA.	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATGAATCGACGTCTCTGCTG	0.517													T	20248896	C	T	20248896	3	4	253	1	0	0	0	0	1	0	0	0	11151	536	19	1	417	1	OR4M1	14	20248896	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08		20248896	87100644	83	17743											
NRXN3	9369	broad.mit.edu	37	chr14	79432392	79432392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtgggagaccatacccGtttggagttccacaacattg	11	10	11	9	1	0	1	0	0	0	1	1	3	1	2	3	3	2	2	3	3	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:79432392G>A	uc001xun.3	+	8	1792	c.1301G>A	c.(1300-1302)cGt>cAt	p.R434H	NRXN3_uc001xum.1_Non-coding_Transcript|NRXN3_uc010asv.1_Missense_Mutation_p.R559H	NM_004796	NP_004787	Q9HDB5	NRX3B_HUMAN	Homo sapiens neurexin 3 (NRXN3), transcript variant 1, mRNA.	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GACCATACCCGTTTGGAGTTC	0.428													A	79432392	G	A	79432392	3	1	253	1	0	0	0	0	1	0	0	0	10743	1145	40	1	1327	1	NRXN3	14	79432392	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	59183496	79432392	27917148	84	17744											
CCDC88C	440193	broad.mit.edu	37	chr14	91755541	91755541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcctgtgatctgagcGgctgagaggccgccggcgag	5	7	17	12	5	2	3	0	3	2	1	3	5	2	3	3	4	1	1	3	4	0	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr14:91755541G>A	uc010aty.3	-	24	4503	c.4349C>T	c.(4348-4350)cCg>cTg	p.P1450L		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1450					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGATCTGAGCGGCTGAGAGGC	0.652													A	91755541	G	A	91755541	3	1	253	1	0	0	0	0	1	0	0	0	2893	1116	39	1	1761	1	CCDC88C	14	91755541	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	12323149	91755541	15593999	85	17745											
ADAM10	102	broad.mit.edu	37	chr15	58957380	58957380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagcccccctgaggaccGtatttatggggatagtctaa	10	9	11	11	1	1	1	0	1	1	0	1	3	1	3	4	3	1	2	4	3	4	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:58957380G>A	uc002afd.1	-	4	945	c.501C>T	c.(499-501)taC>taT	p.Y167Y	ADAM10_uc010bgc.1_Non-coding_Transcript|ADAM10_uc010ugz.1_Intron|ADAM10_uc002afe.1_Intron	NM_001110	NP_001101	O14672	ADA10_HUMAN	Homo sapiens ADAM metallopeptidase domain 10 (ADAM10), mRNA.	167					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		CCTGAGGACCGTATTTATGGG	0.348													A	58957380	G	A	58957380	2	1	253	1	0	0	0	0	0	0	0	1	234	1140	40	1		1	ADAM10	15	58957380	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		58957380	43574012	86	17746											
UACA	55075	broad.mit.edu	37	chr15	70959297	70959297	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggccaatttttcatttaaGctagaaatctgtgtctccaa	11	16	6	8	0	3	1	1	0	2	1	4	1	3	1	2	1	1	1	2	1	5	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:70959297G>C	uc002asr.3	-	15	3830	c.3726C>G	c.(3724-3726)agC>agG	p.S1242R	UACA_uc010uke.2_Missense_Mutation_p.S1133R|UACA_uc002asq.3_Missense_Mutation_p.S1229R|UACA_uc010bin.1_Missense_Mutation_p.S1217R	NM_018003	NP_060473	Q9BZF9	UACA_HUMAN	Homo sapiens uveal autoantigen with coiled-coil domains and ankyrin repeats (UACA), transcript variant 1, mRNA.	1242						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TTTCATTTAAGCTAGAAATCT	0.323													C	70959297	G	C	70959297	3	2	253	1	0	0	0	0	1	0	0	0	16926	962	34	4	540	4	UACA	15	70959297	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	12001917	70959297	31572095	87	17747											
ALDH1A3	220	broad.mit.edu	37	chr15	101432805	101432805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccctcagatactttgcaGggtgggcagacaaaatccag	13	7	11	10	0	1	2	1	0	0	2	2	3	2	2	2	2	3	2	2	2	4	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr15:101432805G>T	uc002bwn.4	+	3	540	c.436G>T	c.(436-438)Ggg>Tgg	p.G146W	ALDH1A3_uc010bpb.3_Intron	NM_000693	NP_000684	P47895	AL1A3_HUMAN	Homo sapiens aldehyde dehydrogenase 1 family, member A3 (ALDH1A3), mRNA.	146					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATACTTTGCAGGGTGGGCAGA	0.473													T	101432805	G	T	101432805	3	4	253	1	0	0	0	0	1	0	0	0	492	1000	35	4	450	4	ALDH1A3	15	101432805	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	30473508	101432805	1098587	88	17748											
NF1	4763	broad.mit.edu	37	chr17	29654677	29654678	+	Frame_Shift_Ins	INS	-	-	C																															gcaaaccagggcacgccgctINScaccttcatgcaccaggagt																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29654677_29654678insC	uc002hgg.3	+	37	5812_5813	c.5429_5430insC	c.(5428-5430)ctcfs	p.L1810fs	NF1_uc002hgh.3_Frame_Shift_Ins_p.L1789fs|NF1_uc002hgi.1_Frame_Shift_Ins_p.L822fs|NF1_uc010cso.3_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	1810					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGCACGCCGCTCACCTTCATGC	0.48			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29654678	-	C	29654677	7	5	253	1	0	1	1	0	0	0	0	0	10432	1551	54	0	5640	0	NF1	17	29654677	Frame_Shift_Ins	INS	-	TCGA-74-6575-01A-11D-1845-08		29654677	51540533	89	17749											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29850999	29850999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgaagcaagagaacaCacagctggtgcacaggtcaa	16	4	11	10	0	1	2	1	1	0	1	1	3	1	2	0	2	5	4	0	2	5	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:29850999C>A	uc002hgn.1	+	8	1347	c.1118C>A	c.(1117-1119)aCa>aAa	p.T373K	RAB11FIP4_uc002hgo.2_Missense_Mutation_p.T271K	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	373	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				CAAGAGAACACACAGCTGGTG	0.597													A	29850999	C	A	29850999	3	1	253	1	0	0	0	0	1	0	0	0	12984	478	17	4	1152	4	RAB11FIP4	17	29850999	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	196322	29850999	51344211	90	17750											
ABCA10	10349	broad.mit.edu	37	chr17	67211983	67211983	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccagcagtgaaggcaaaAgggctaagaagacttaatac	17	7	10	7	0	0	3	0	1	0	2	1	3	1	3	1	2	2	3	1	2	7	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr17:67211983A>G	uc010dfa.1	-	8	1710	c.831T>C	c.(829-831)ccT>ccC	p.P277P	ABCA10_uc010wqt.1_Non-coding_Transcript|ABCA10_uc010dfb.1_5'Flank|ABCA10_uc010dfc.1_Silent_p.P169P	NM_080282	NP_525021	Q8WWZ4	ABCAA_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 10 (ABCA10), mRNA.	277					transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					TGAAGGCAAAAGGGCTAAGAA	0.353													G	67211983	A	G	67211983	2	3	253	1	0	0	0	0	0	0	0	1	29	59	3	3		3	ABCA10	17	67211983	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	37360984	67211983	13983227	91	17751											
CTAGE1	64693	broad.mit.edu	37	chr18	19996611	19996611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatggctgatcatttcGtctactttagaaagtttctc	8	16	9	8	1	3	2	1	1	2	1	5	2	3	2	0	2	1	3	0	2	3	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:19996611G>A	uc002ktv.1	-	0	1268	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D		NM_172241	NP_758441	Q96RT6	CTGE2_HUMAN	Homo sapiens cutaneous T-cell lymphoma-associated antigen 1 (CTAGE1), transcript variant 1, mRNA.	388						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGATCATTTCGTCTACTTTAG	0.343													A	19996611	G	A	19996611	2	1	253	1	0	0	0	0	0	0	0	1	4025	1136	40	1		1	CTAGE1	18	19996611	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		19996611	58080637	92	17752											
DSC2	1824	broad.mit.edu	37	chr18	28662997	28662997	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccatccatgtcttgtacTtttattttcaactggtactt	8	19	5	9	0	2	1	1	1	1	0	3	1	3	1	2	1	3	2	2	1	4	8			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:28662997T>A	uc002kwl.4	-	7	1426	c.972A>T	c.(970-972)aaA>aaT	p.K324N	DSC2_uc002kwk.4_Missense_Mutation_p.K324N	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	324	Cadherin 2.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TGTCTTGTACTTTTATTTTCA	0.308													A	28662997	T	A	28662997	3	1	253	1	0	0	0	0	1	0	0	0	4805	1606	56	5	1809	5	DSC2	18	28662997	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	8666386	28662997	49414251	93	17753											
CELF4	56853	broad.mit.edu	37	chr18	34854357	34854357	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccatctgctgcattcGccgcatcgtgcgctccttgt	4	11	10	16	4	1	0	0	0	1	0	4	0	2	0	4	0	4	4	4	0	0	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr18:34854357G>A	uc002lae.2	-	5	1114	c.718C>T	c.(718-720)Cga>Tga	p.R240*	CELF4_uc021uix.1_Nonsense_Mutation_p.R239*|CELF4_uc021uiy.1_Nonsense_Mutation_p.R240*|CELF4_uc002lag.2_Nonsense_Mutation_p.R230*|CELF4_uc002laf.2_Nonsense_Mutation_p.R235*|CELF4_uc002lai.2_Nonsense_Mutation_p.R225*|CELF4_uc002lah.2_5'Flank|CELF4_uc002laj.1_Missense_Mutation_p.A75V	NM_020180	NP_064565	Q9BZC1	CELF4_HUMAN	Homo sapiens CUGBP, Elav-like family member 4 (CELF4), transcript variant 1, mRNA.	240	Necessary for TNNT2 exon 5 inclusion.|Sufficient for RNA-binding and MSE- dependent splicing activity.				embryo development|germ cell development|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	BRE binding|nucleotide binding|translation repressor activity, nucleic acid binding	p.R239L(1)|p.R239W(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	44						TGCTGCATTCGCCGCATCGTG	0.667													A	34854357	G	A	34854357	4	1	253	1	0	0	0	0	0	1	0	0	3248	1095	38	1	770	1	CELF4	18	34854357	Nonsense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	6191360	34854357	43222891	94	17754											
PPAP2C	8612	broad.mit.edu	37	chr19	288137	288137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcctcgcttgtacggggcGttcaccagcgtcaggatagc	8	9	12	12	4	2	0	2	0	0	0	4	1	3	1	2	3	3	3	2	3	3	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:288137G>A	uc002loh.3	-	1	253	c.150C>T	c.(148-150)aaC>aaT	p.N50N	PPAP2C_uc002loi.3_Silent_p.N29N|PPAP2C_uc002loj.3_5'UTR	NM_177543	NP_803545	O43688	LPP2_HUMAN	Homo sapiens phosphatidic acid phosphatase type 2C (PPAP2C), transcript variant 3, mRNA.	29					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TGTACGGGGCGTTCACCAGCG	0.617													A	288137	G	A	288137	2	1	253	1	0	0	0	0	0	0	0	1	12369	1136	40	1		1	PPAP2C	19	288137	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08		288137	58840846	95	17755											
SLC39A3	29985	broad.mit.edu	37	chr19	2733313	2733313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactccgagtcgctgccCacgtccgatccggcgttgaa	7	9	10	15	6	1	1	1	1	0	0	5	3	4	1	4	1	2	2	4	1	2	2			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:2733313C>T	uc010xgy.1	-	2	635	c.381G>A	c.(379-381)gtG>gtA	p.V127V	SLC39A3_uc002lwg.3_Silent_p.V127V	NM_144564	NP_653165	Q9BRY0	S39A3_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 3 (SLC39A3), transcript variant 1, mRNA.	127						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		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)		AGTCGCTGCCCACGTCCGATC	0.662													T	2733313	C	T	2733313	2	4	253	1	0	0	0	0	0	0	0	1	14713	581	21	2		2	SLC39A3	19	2733313	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2445176	2733313	56395670	96	17756											
VAV1	7409	broad.mit.edu	37	chr19	6854017	6854017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacttctgcgcccgagacCgatcagagctgtcgctcaag	9	8	11	13	4	3	3	2	1	1	2	4	5	3	3	2	0	2	2	2	0	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:6854017C>T	uc002mfu.1	+	25	2489	c.2392C>T	c.(2392-2394)Cga>Tga	p.R798*	VAV1_uc010xjh.1_Nonsense_Mutation_p.R766*|VAV1_uc010dva.1_Nonsense_Mutation_p.R776*|VAV1_uc002mfv.1_Nonsense_Mutation_p.R743*	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	798	SH3 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.R798Q(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CGCCCGAGACCGATCAGAGCT	0.552													T	6854017	C	T	6854017	4	4	253	1	0	0	0	0	0	1	0	0	17233	644	23	1	2494	1	VAV1	19	6854017	Nonsense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	4120704	6854017	52274966	97	17757											
AKAP8L	26993	broad.mit.edu	37	chr19	15510183	15510183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcctgcctgcaacttgcGcttggtctggccattttcat	4	15	9	13	1	2	0	1	0	1	0	2	0	2	0	3	2	5	2	3	2	1	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:15510183G>A	uc002naw.1	-	8	1186	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	AKAP8L_uc002nax.1_Non-coding_Transcript|AKAP8L_uc010xoh.1_Missense_Mutation_p.R302C	NM_014371	NP_055186	Q9ULX6	AKP8L_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 8-like (AKAP8L), mRNA.	363						cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGCAACTTGCGCTTGGTCTGG	0.602													A	15510183	G	A	15510183	3	1	253	1	0	0	0	0	1	0	0	0	458	1087	38	1	877	1	AKAP8L	19	15510183	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	8656166	15510183	43618800	98	17758											
CPAMD8	27151	broad.mit.edu	37	chr19	17014389	17014389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcatcaggcagcagccGtcccccttggcactcacaaa	10	6	8	17	1	2	0	2	0	0	0	3	0	3	0	4	2	3	4	4	2	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:17014389G>A	uc002nfb.3	-	33	4625	c.4593C>T	c.(4591-4593)gaC>gaT	p.D1531D	CPAMD8_uc002nfd.1_5'UTR	NM_015692	NP_056507	Q8IZJ3	CPMD8_HUMAN	Homo sapiens C3 and PZP-like, alpha-2-macroglobulin domain containing 8 (CPAMD8), mRNA.	1484						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GGCAGCAGCCGTCCCCCTTGG	0.617													A	17014389	G	A	17014389	2	1	253	1	0	0	0	0	0	0	0	1	3826	1136	40	1		1	CPAMD8	19	17014389	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	1504206	17014389	42114594	99	17759											
SLC25A42	284439	broad.mit.edu	37	chr19	19206999	19206999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggctgtcctgtcctcGtccgtctcatcaaaggcaag	7	10	11	13	2	2	1	2	1	1	0	7	1	5	1	3	2	0	3	3	2	2	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:19206999G>T	uc002nlf.2	+	1	222	c.66G>T	c.(64-66)tcG>tcT	p.S22S	SLC25A42_uc010xqn.1_Silent_p.S74S	NM_178526	NP_848621	Q86VD7	S2542_HUMAN	Homo sapiens solute carrier family 25, member 42 (SLC25A42), mRNA.	22					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			cervix(1)|large_intestine(2)|lung(3)	6			OV - Ovarian serous cystadenocarcinoma(5;5.4e-06)|Epithelial(12;0.000497)			TCCTGTCCTCGTCCGTCTCAT	0.647													T	19206999	G	T	19206999	2	4	253	1	0	0	0	0	0	0	0	1	14601	1132	40	4		4	SLC25A42	19	19206999	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	2192610	19206999	39921984	100	17760											
MEGF8	1954	broad.mit.edu	37	chr19	42841352	42841352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcttgccccgccaggaaccCctgagggtgagtggtccctg	6	7	14	14	1	0	2	0	2	0	0	1	3	1	3	6	3	3	1	6	3	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:42841352C>T	uc002otl.4	+	7	2142	c.1507C>T	c.(1507-1509)Cct>Tct	p.P503S	MEGF8_uc002otm.4_Missense_Mutation_p.P44S	NM_001410	NP_001401	Q7Z7M0	MEGF8_HUMAN	Homo sapiens multiple EGF-like-domains 8 (MEGF8), mRNA.	503						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCAGGAACCCCTGAGGGTGA	0.572													T	42841352	C	T	42841352	3	4	253	1	0	0	0	0	1	0	0	0	9538	623	22	2	1537	2	MEGF8	19	42841352	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	23634353	42841352	16287631	101	17761											
ETHE1	23474	broad.mit.edu	37	chr19	44015698	44015698	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcctggggtgtggccaggGctggccctggtctccaacgc	4	7	16	14	1	1	0	0	0	1	0	2	0	1	0	4	6	2	1	4	6	1	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:44015698G>A	uc010eiu.1	-	3	463	c.396C>T	c.(394-396)agC>agT	p.S132S	ETHE1_uc002owp.3_Silent_p.S132S	NM_014297	NP_055112	O95571	ETHE1_HUMAN	Homo sapiens ethylmalonic encephalopathy 1 (ETHE1), nuclear gene encoding mitochondrial protein, mRNA.	132						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				TGTGGCCAGGGCTGGCCCTGG	0.602													A	44015698	G	A	44015698	2	1	253	1	0	0	0	0	0	0	0	1	5313	1194	42	2		2	ETHE1	19	44015698	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	1174346	44015698	15113285	102	17762											
GPR32	2854	broad.mit.edu	37	chr19	51274617	51274617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgggtccatgccaaccggCccaagaggctgctgctggtg	6	7	15	13	1	0	1	0	0	0	1	1	1	1	1	4	4	4	4	4	4	2	0			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51274617C>T	uc010ycf.2	+	0	760	c.760C>T	c.(760-762)Ccc>Tcc	p.P254S		NM_001506	NP_001497	O75388	GPR32_HUMAN	Homo sapiens G protein-coupled receptor 32 (GPR32), mRNA.	254						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGCCAACCGGCCCAAGAGGCT	0.612													T	51274617	C	T	51274617	3	4	253	1	0	0	0	0	1	0	0	0	6742	739	26	2	762	2	GPR32	19	51274617	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	7258919	51274617	7854366	103	17763											
KLK8	11202	broad.mit.edu	37	chr19	51503469	51503469	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatttcttgctctgggccAtctttattctgtaggctgtg	4	18	11	8	0	4	0	0	0	4	0	4	0	4	0	1	3	1	4	1	3	3	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:51503469A>G	uc002puq.1	-	3	597	c.411T>C	c.(409-411)gaT>gaC	p.D137D	KLK8_uc002pur.1_Silent_p.D92D|KLK8_uc002pus.1_Intron|KLK8_uc002put.1_Intron|KLK8_uc002puu.1_Silent_p.D92D|KLK8_uc002puv.1_Intron	NM_144505	NP_653088	O60259	KLK8_HUMAN	Homo sapiens kallikrein-related peptidase 8 (KLK8), transcript variant 2, mRNA.	92	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		GCTCTGGGCCATCTTTATTCT	0.537													G	51503469	A	G	51503469	2	3	253	1	0	0	0	0	0	0	0	1	8468	214	8	3		3	KLK8	19	51503469	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08	228852	51503469	7625514	104	17764											
LILRB3	79168	broad.mit.edu	37	chr19	54744862	54744862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggctgctggccagggCgctggaggaagtcacgttcc	5	7	17	12	2	1	0	1	0	0	0	2	2	2	2	3	6	1	4	3	6	1	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:54744862C>T	uc010erh.1	-						LILRB3_uc002qer.1_Non-coding_Transcript|LILRB3_uc002qes.1_Intron|LILRB3_uc002qeh.1_Intron|LILRB3_uc002qeg.1_Intron|LILRB3_uc002qei.1_Intron|LILRB3_uc002qek.1_Missense_Mutation_p.R267H|LILRB3_uc002qej.1_Intron|LILRB3_uc002qel.1_Missense_Mutation_p.R267H|LILRB3_uc002qem.1_Non-coding_Transcript|LILRB3_uc002qen.1_Non-coding_Transcript|LILRB3_uc002qeo.1_Missense_Mutation_p.R267H|LILRB3_uc002qep.1_Intron|LILRB3_uc002qeq.1_Missense_Mutation_p.R267H|LILRB3_uc010yep.1_Missense_Mutation_p.R267H|LILRB3_uc010yeq.1_Missense_Mutation_p.R267H|LILRB3_uc002qet.3_Non-coding_Transcript|LILRB3_uc002qeu.1_Missense_Mutation_p.R267H|LILRB3_uc002qev.1_Missense_Mutation_p.R128H	NM_006864	NP_006855	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3 (LILRB3), transcript variant 2, mRNA.						cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.R267L(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CTGGCCAGGGCGCTGGAGGAA	0.647													T	54744862	C	T	54744862	3	4	253	1	0	0	0	0	1	0	0	0	8852	768	27	1		1	LILRB3	19	54744862	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	3241393	54744862	4384121	105	17765											
KIR3DL2	3811	broad.mit.edu	37	chr19	55377847	55377847	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtaatggaccaagaGcctgcgggggacagaacagt	11	6	15	9	1	0	2	0	0	0	2	0	4	0	4	2	3	4	3	2	3	3	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:55377847G>A	uc002qhl.4	+	7	1191	c.1128G>A	c.(1126-1128)gaG>gaA	p.E376E	KIR3DL2_uc002qho.4_Silent_p.E376E|KIR3DL2_uc010esh.3_Silent_p.E359E			P43630	KI3L2_HUMAN	Homo sapiens killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1 (KIR3DL1), mRNA.	376					cellular defense response|regulation of immune response	integral to plasma membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	23				GBM - Glioblastoma multiforme(193;0.0192)		TGGACCAAGAGCCTGCGGGGG	0.542													A	55377847	G	A	55377847	2	1	253	1	0	0	0	0	0	0	0	1	8379	962	34	2		2	KIR3DL2	19	55377847	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	632985	55377847	3751136	106	17766											
NLRP11	204801	broad.mit.edu	37	chr19	56313012	56313012	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatatttagggaaatggaCgtacagttgatactcaggta	15	11	10	5	1	1	1	1	1	0	0	1	3	1	3	0	3	3	3	0	3	7	7			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56313012C>G	uc010ygf.2	-	6	2808	c.2097G>C	c.(2095-2097)acG>acC	p.T699T	NLRP11_uc002qlz.3_Silent_p.T546T|NLRP11_uc002qmb.3_Silent_p.T600T|NLRP11_uc002qmc.3_Non-coding_Transcript|NLRP11_uc010ete.1_Non-coding_Transcript	NM_145007	NP_659444	P59045	NAL11_HUMAN	Homo sapiens NLR family, pyrin domain containing 11 (NLRP11), mRNA.	699							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GGGAAATGGACGTACAGTTGA	0.468													G	56313012	C	G	56313012	2	3	253	1	0	0	0	0	0	0	0	1	10549	523	19	4		4	NLRP11	19	56313012	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	935165	56313012	2815971	107	17767											
NLRP13	126204	broad.mit.edu	37	chr19	56407321	56407321	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtgaggtttacccgagtTtctgcagcctgcatgtcgac	7	12	11	11	2	2	1	1	1	1	0	3	3	2	1	2	1	4	4	2	1	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:56407321T>A	uc010ygg.2	-	10	3147	c.3122A>T	c.(3121-3123)aAa>aTa	p.K1041I		NM_176810	NP_789780	Q86W25	NAL13_HUMAN	Homo sapiens NLR family, pyrin domain containing 13 (NLRP13), mRNA.	1041				KALKKSTCRLQKLG -> FKKTCTM (in Ref. 2; DAA01241).			ATP binding	p.K1041R(2)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TTACCCGAGTTTCTGCAGCCT	0.458													A	56407321	T	A	56407321	3	1	253	1	0	0	0	0	1	0	0	0	10551	1841	64	5	11	5	NLRP13	19	56407321	Missense_Mutation	SNP	T	TCGA-74-6575-01A-11D-1845-08	94309	56407321	2721662	108	17768											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850663	58850663	+	Frame_Shift_Del	DEL	T	T	-																															gctcagccctgatggttcacTtgcggatccacatcacggtg																										TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chr19:58850663delT	uc002qsc.2	+	2	1594	c.1447delT	c.(1447-1449)ttgfs	p.L483fs	ZSCAN22_uc010yhz.1_3'UTR	NM_181846	NP_862829	P10073	ZSC22_HUMAN	Homo sapiens zinc finger and SCAN domain containing 22 (ZSCAN22), mRNA.	483					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		GATGGTTCACTTGCGGATCCA	0.577													-	58850663	T	-	58850663	7	5	253	1	0	1	0	1	0	0	0	0	18332	1606	56	0	1453	0	ZSCAN22	19	58850663	Frame_Shift_Del	DEL	T	TCGA-74-6575-01A-11D-1845-08	2443342	58850663	278320	109	17769											
CSF2RA	1438	broad.mit.edu	37	chrX	1407534	1407534	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgctttatccaaattcAggtaagcaagacagctcagg	15	9	8	9	0	2	1	2	0	0	1	3	1	3	1	1	2	4	4	1	2	5	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:1407534A>G	uc010nct.2	+	6	665	c.343_splice	c.e6+1	p.G115_splice	CRLF2_uc022brt.1_Intron|CSF2RA_uc011mhb.1_Splice_Site_p.G115_splice|CSF2RA_uc004cpq.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpn.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpo.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncu.2_Splice_Site|CSF2RA_uc011mhc.1_Splice_Site|CSF2RA_uc004cpp.2_Splice_Site_p.G115_splice|CSF2RA_uc010ncv.2_Splice_Site_p.G115_splice|CSF2RA_uc004cpr.2_Splice_Site_p.G115_splice	NM_001161529	NP_001155004	P15509	CSF2R_HUMAN	Homo sapiens colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage) (CSF2RA), transcript variant 7, mRNA.	115						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ATCCAAATTCAGGTAAGCAAG	0.443													G	1407534	A	G	1407534	2	3	253	1	0	0	0	0	0	0	0	1	3967	202	7	3		3	CSF2RA	23	1407534	Silent	SNP	A	TCGA-74-6575-01A-11D-1845-08		1407534	153863026	110	17770											
TLR7	51284	broad.mit.edu	37	chrX	12906437	12906437	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggactggttaccagggcAgccagttctggaaaaccttt	11	9	12	9	0	1	0	0	0	1	0	1	2	1	2	3	4	3	3	3	4	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:12906437A>T	uc004cvc.3	+	2	2949	c.2810A>T	c.(2809-2811)cAg>cTg	p.Q937L		NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN	Homo sapiens toll-like receptor 7 (TLR7), mRNA.	937	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TTACCAGGGCAGCCAGTTCTG	0.443													T	12906437	A	T	12906437	3	4	253	1	0	0	0	0	1	0	0	0	16056	188	7	5	2816	5	TLR7	23	12906437	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	11498903	12906437	142364123	111	17771											
BMX	660	broad.mit.edu	37	chrX	15526512	15526512	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctagaagaacttcttctCaaaagatcacagcaaaagaa	19	9	5	8	0	4	4	2	0	3	4	5	4	4	4	0	0	2	1	0	0	8	4			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:15526512C>G	uc004cww.3	+	1	224	c.36C>G	c.(34-36)ctC>ctG	p.L12L	BMX_uc004cwx.4_Silent_p.L12L|BMX_uc004cwy.4_Silent_p.L12L	NM_203281	NP_975010	P51813	BMX_HUMAN	Homo sapiens BMX non-receptor tyrosine kinase (BMX), transcript variant 1, mRNA.	12	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AACTTCTTCTCAAAAGATCAC	0.284													G	15526512	C	G	15526512	2	3	253	1	0	0	0	0	0	0	0	1	1479	813	29	4		4	BMX	23	15526512	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	2620075	15526512	139744048	112	17772											
CDKL5	6792	broad.mit.edu	37	chrX	18664128	18664128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccccactaactagaCggtggatgtgatggcagaag	10	10	12	9	1	1	3	0	1	1	2	2	4	1	4	2	3	1	2	2	3	3	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:18664128C>T	uc004cym.3	+	19	2967	c.2714_splice	c.e19-1	p.D905_splice	CDKL5_uc004cyn.3_Splice_Site_p.D905_splice|RS1_uc004cyo.3_Intron	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	905					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding	p.D905D(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					actaactagacggtggatgtg	0.493													T	18664128	C	T	18664128	2	4	253	1	0	0	0	0	0	0	0	1	3187	550	19	1		1	CDKL5	23	18664128	Silent	SNP	C	TCGA-74-6575-01A-11D-1845-08	3137616	18664128	136606432	113	17773											
UBQLN2	29978	broad.mit.edu	37	chrX	56590893	56590893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgttcagagcatgctttCgaatcccgatctgatgaggc	8	13	10	10	2	2	3	1	2	1	1	4	5	3	3	1	1	2	3	1	1	1	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:56590893C>T	uc004dus.3	+	0	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L	UBQLN2_uc011moq.1_Missense_Mutation_p.S196L	NM_013444	NP_038472	Q9UHD9	UBQL2_HUMAN	Homo sapiens ubiquilin 2 (UBQLN2), mRNA.	196						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473													T	56590893	C	T	56590893	3	4	253	1	0	0	0	0	1	0	0	0	16999	893	31	1	589	1	UBQLN2	23	56590893	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	37926765	56590893	98679667	114	17774											
ATRX	546	broad.mit.edu	37	chrX	76918879	76918879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacatcttaccctttcttCtgtttctgcctttgacttct	7	19	3	12	0	5	1	0	1	5	0	5	1	5	1	2	0	3	1	2	0	3	6			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:76918879C>G	uc004ecp.4	-	11	4344	c.4112G>C	c.(4111-4113)aGa>aCa	p.R1371T	ATRX_uc004ecq.4_Missense_Mutation_p.R1333T|ATRX_uc004eco.4_Missense_Mutation_p.R1156T|ATRX_uc004ecr.2_Missense_Mutation_p.R1303T	NM_000489	NP_000480	P46100	ATRX_HUMAN	Homo sapiens alpha thalassemia/mental retardation syndrome X-linked (ATRX), transcript variant 1, mRNA.	1371					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)	ACCCTTTCTTCTGTTTCTGCC	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76918879	C	G	76918879	3	3	253	1	0	0	0	0	1	0	0	0	1213	913	32	4	3462	4	ATRX	23	76918879	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	20327986	76918879	78351681	115	17775											
POU3F4	5456	broad.mit.edu	37	chrX	82763915	82763915	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cgccaacctctgatgagttgGaacagttcgccaaacaattc	12	9	8	12	2	1	2	0	2	1	0	3	3	1	3	3	1	3	2	3	1	4	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:82763915G>C	uc004eeg.2	+	0	647	c.583G>C	c.(583-585)Gaa>Caa	p.E195Q		NM_000307	NP_000298	P49335	PO3F4_HUMAN	Homo sapiens POU class 3 homeobox 4 (POU3F4), mRNA.	195	POU-specific.				sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						TGATGAGTTGGAACAGTTCGC	0.582													C	82763915	G	C	82763915	3	2	253	1	0	0	0	0	1	0	0	0	12354	1175	41	4	585	4	POU3F4	23	82763915	Missense_Mutation	SNP	G	TCGA-74-6575-01A-11D-1845-08	5845036	82763915	72506645	116	17776											
TAF7L	54457	broad.mit.edu	37	chrX	100538449	100538449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccatacctgagaaatgtCtgctgttttataaaaggttt	12	15	8	6	0	1	1	0	1	1	1	2	2	2	1	2	1	2	3	2	1	5	5			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538449C>G	uc004ehb.3	-	3	552	c.526G>C	c.(526-528)Gac>Cac	p.D176H	TAF7L_uc004eha.3_Missense_Mutation_p.D90H|TAF7L_uc004ehc.2_Missense_Mutation_p.D90H	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	176					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGAGAAATGTCTGCTGTTTTA	0.378													G	100538449	C	G	100538449	3	3	253	1	0	0	0	0	1	0	0	0	15630	913	32	4	902	4	TAF7L	23	100538449	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	17774534	100538449	54732111	117	17777											
TAF7L	54457	broad.mit.edu	37	chrX	100538507	100538507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttcaataacacaaggCaagtcaaccagcttagcagc	15	7	8	11	0	2	0	2	0	0	0	2	0	2	0	1	2	5	4	1	2	6	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:100538507C>G	uc004ehb.3	-	3	494	c.468G>C	c.(466-468)ttG>ttC	p.L156F	TAF7L_uc004eha.3_Missense_Mutation_p.L70F|TAF7L_uc004ehc.2_Missense_Mutation_p.L70F	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	156					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TAACACAAGGCAAGTCAACCA	0.403													G	100538507	C	G	100538507	3	3	253	1	0	0	0	0	1	0	0	0	15630	709	25	4	960	4	TAF7L	23	100538507	Missense_Mutation	SNP	C	TCGA-74-6575-01A-11D-1845-08	58	100538507	54732053	118	17778											
KCNE1L	23630	broad.mit.edu	37	chrX	108868079	108868079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtagagataggcgtcGtcgcccttggcgctggtcac	7	9	15	10	4	1	1	1	0	0	1	3	3	1	2	1	4	0	2	1	4	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:108868079G>A	uc004eoh.3	-	0	315	c.171C>T	c.(169-171)gaC>gaT	p.D57D		NM_012282	NP_036414	Q9UJ90	KCE1L_HUMAN	Homo sapiens KCNE1-like (KCNE1L), mRNA.	57					regulation of heart contraction	voltage-gated potassium channel complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GATAGGCGTCGTCGCCCTTGG	0.652													A	108868079	G	A	108868079	2	1	253	1	0	0	0	0	0	0	0	1	8080	1136	40	1		1	KCNE1L	23	108868079	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	8329572	108868079	46402481	119	17779											
XPNPEP2	7512	broad.mit.edu	37	chrX	128890500	128890500	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctgtcctcagatgagAtgtacctgctggactctggg	8	10	13	10	0	2	2	1	1	1	2	3	4	3	3	2	2	3	4	2	2	2	1			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:128890500A>C	uc004eut.1	+	13	1580	c.1336A>C	c.(1336-1338)Atg>Ctg	p.M446L		NM_003399	NP_003390	O43895	XPP2_HUMAN	Homo sapiens X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound (XPNPEP2), mRNA.	446					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CTCAGATGAGATGTACCTGCT	0.592													C	128890500	A	C	128890500	3	2	253	1	0	0	0	0	1	0	0	0	17545	333	12	5	1390	5	XPNPEP2	23	128890500	Missense_Mutation	SNP	A	TCGA-74-6575-01A-11D-1845-08	20022421	128890500	26380060	120	17780											
MAGEC1	9947	broad.mit.edu	37	chrX	140994261	140994261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtattttccagagttcTcctgagagtgctcaaagtac	10	14	9	8	0	2	3	1	2	1	2	4	4	3	3	2	0	2	4	2	0	3	6	rs58302943	byFrequency	TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:140994261T>C	uc004fbt.3	+	3	1395	c.1071T>C	c.(1069-1071)tcT>tcC	p.S357S	MAGEC1_uc010nsl.2_Intron|MAGEC1_uc022cfi.1_Silent_p.S16S	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	357							protein binding	p.S357Y(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGAGTTCTCCTGAGAGTG	0.468										HNSCC(15;0.026)			C	140994261	T	C	140994261	2	2	253	1	0	0	0	0	0	0	0	1	9255	1538	54	3		3	MAGEC1	23	140994261	Silent	SNP	T	TCGA-74-6575-01A-11D-1845-08	12103761	140994261	14276299	121	17781											
FLNA	2316	broad.mit.edu	37	chrX	153592699	153592699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactctgctggcttgttgacGgccacacctgtcttctccaa	7	12	8	14	1	3	1	0	1	3	0	4	1	3	1	3	2	2	3	3	2	2	3			TCGA-74-6575-01A-11D-1845-08	TCGA-74-6575-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4ec96d6-d7fc-4892-9a36-80802f387a12	bbf0cfd3-ee48-46de-8e5c-15f89207dee9	g.chrX:153592699G>A	uc004fkk.2	-	13	2313	c.2064C>T	c.(2062-2064)gcC>gcT	p.A688A	FLNA_uc010nuu.1_Silent_p.A688A	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	688					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTTGTTGACGGCCACACCTG	0.637													A	153592699	G	A	153592699	2	1	253	1	0	0	0	0	0	0	0	1	5982	1103	39	1		1	FLNA	23	153592699	Silent	SNP	G	TCGA-74-6575-01A-11D-1845-08	12598438	153592699	1677861	122	17782											
KIAA0090	23065	broad.mit.edu	37	chr1	19557342	19557342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacatgccttcctacctttCgaagccgatatccacacagc	10	9	7	15	2	0	0	0	0	0	0	3	3	2	1	5	1	4	0	5	1	3	4			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:19557342C>T	uc001bbo.3	-	16	2103	c.2060G>A	c.(2059-2061)cGa>cAa	p.R687Q	KIAA0090_uc001bbp.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbq.3_Missense_Mutation_p.R686Q|KIAA0090_uc001bbr.3_Missense_Mutation_p.R665Q	NM_015047	NP_055862	Q8N766	K0090_HUMAN	Homo sapiens KIAA0090 (KIAA0090), mRNA.	687						integral to membrane	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	25		Colorectal(325;0.000147)|Renal(390;0.000469)|Breast(348;0.00366)|all_lung(284;0.00519)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;3.84e-05)|Kidney(64;0.000191)|KIRC - Kidney renal clear cell carcinoma(64;0.00274)|GBM - Glioblastoma multiforme(114;0.005)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0656)		TCCTACCTTTCGAAGCCGATA	0.502													T	19557342	C	T	19557342	3	4	254	1	0	0	0	0	1	0	0	0	8211	884	31	1	949	1	KIAA0090	1	19557342	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		19557342	229693279	1	17783											
HRNR	388697	broad.mit.edu	37	chr1	152185734	152185734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaggactgtcctgagcCagacccatgttggccgtagc	9	7	12	13	1	0	3	0	1	0	2	1	4	1	4	5	2	2	2	5	2	1	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:152185734C>T	uc001ezt.1	-	2	8447	c.8371G>A	c.(8371-8373)Ggc>Agc	p.G2791S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2791					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGAGCCAGACCCATGT	0.557													T	152185734	C	T	152185734	3	4	254	1	0	0	0	0	1	0	0	0	7414	594	21	2	185	2	HRNR	1	152185734	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	132628392	152185734	97064887	2	17784											
SOX13	9580	broad.mit.edu	37	chr1	204092264	204092265	+	Missense_Mutation	DNP	CC	CC	AA																															tcatcagcctggactcatccCcagccaaggagcggctggag																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204092264_204092265CC>AA	uc001ham.3	+	10	1754_1755	c.1159_1160CC>AA	c.(1159-1161)cca>AAa	p.P387K	SOX13_uc010pqp.2_Missense_Mutation_p.P386K|SOX13_uc010pqq.2_Missense_Mutation_p.P254K	NM_005686	NP_005677	Q9UN79	SOX13_HUMAN	Homo sapiens SRY (sex determining region Y)-box 13 (SOX13), mRNA.	387					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGACTCATCCCCAGCCAAGGAG	0.634													AA	204092265	CC	AA	204092264	3	1	254	1	0	0	0	0	1	0	0	0	15038	623	22	4	1197	4	SOX13	1	204092264	Missense_Mutation	DNP	CC	TCGA-74-6577-01A-11D-1845-08	51906530	204092264	45158357	3	17785											
REN	5972	broad.mit.edu	37	chr1	204125330	204125330	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcctcttcttggctccCaaggcctccatgagcttctc	7	11	7	16	0	3	1	0	1	3	0	6	1	5	1	4	2	3	2	4	2	2	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr1:204125330C>A	uc001haq.2	-	7	980	c.936G>T	c.(934-936)ttG>ttT	p.L312F		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	312					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TCTTGGCTCCCAAGGCCTCCA	0.567													A	204125330	C	A	204125330	3	1	254	1	0	0	0	0	1	0	0	0	13312	593	21	4	296	4	REN	1	204125330	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	33066	204125330	45125291	4	17786											
GLI2	2736	broad.mit.edu	37	chr2	121748070	121748070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactcgagtttgttctcggGtgctctgagccccagcctcc	4	12	10	15	2	3	1	1	1	2	0	6	2	4	1	4	1	3	3	4	1	0	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr2:121748070G>T	uc010flp.3	+	12	4610	c.4580G>T	c.(4579-4581)gGt>gTt	p.G1527V	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Missense_Mutation_p.G1199V|GLI2_uc002tmu.4_Missense_Mutation_p.G1182V	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	1527					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTGTTCTCGGGTGCTCTGAGC	0.622													T	121748070	G	T	121748070	3	4	254	1	0	0	0	0	1	0	0	0	6494	1261	44	4	4630	4	GLI2	2	121748070	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		121748070	121451303	5	17787											
SEMA3G	56920	broad.mit.edu	37	chr3	52475334	52475334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcgagccaccatcgggCgaggggaccgtctccgagaa	8	6	15	12	5	1	1	0	0	1	1	4	5	1	2	4	4	1	1	4	4	1	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr3:52475334C>T	uc003dea.1	-	6	759	c.759G>A	c.(757-759)tcG>tcA	p.S253S		NM_020163	NP_064548	Q9NS98	SEM3G_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G (SEMA3G), mRNA.	253	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		CACCATCGGGCGAGGGGACCG	0.617													T	52475334	C	T	52475334	2	4	254	1	0	0	0	0	0	0	0	1	14123	755	27	1		1	SEMA3G	3	52475334	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		52475334	145547096	6	17788											
UGT2B4	7363	broad.mit.edu	37	chr4	70346533	70346533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttggctcctttatggCgcatgacaaattcaatccag	9	12	10	10	1	1	1	1	1	0	0	3	1	3	1	2	3	1	3	2	3	3	4			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr4:70346533C>T	uc003hek.4	-	5	1453	c.1406G>A	c.(1405-1407)cGc>cAc	p.R469H	UGT2B4_uc011cap.2_Missense_Mutation_p.R333H|UGT2B4_uc003hel.4_3'UTR	NM_021139	NP_066962	P06133	UD2B4_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B4 (UGT2B4), mRNA.	469					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TCCTTTATGGCGCATGACAAA	0.473													T	70346533	C	T	70346533	3	4	254	1	0	0	0	0	1	0	0	0	17063	768	27	1	184	1	UGT2B4	4	70346533	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		70346533	120807743	7	17789											
NPR3	4883	broad.mit.edu	37	chr5	32774858	32774858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgatgccatcctcctctaCgtcttggctctacatgaagt	8	12	7	14	2	3	1	0	1	3	0	5	2	5	1	3	1	3	1	3	1	3	3	rs140897654	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:32774858C>T	uc003jhv.3	+	3	1549	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	NPR3_uc010iuo.3_Silent_p.Y152Y|NPR3_uc003jhw.2_Silent_p.Y152Y|NPR3_uc003jhu.3_Silent_p.Y368Y	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	368					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.Y368Y(2)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TCCTCCTCTACGTCTTGGCTC	0.443													T	32774858	C	T	32774858	2	4	254	1	0	0	0	0	0	0	0	1	10672	547	19	1		1	NPR3	5	32774858	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		32774858	148140402	8	17790											
STK32A	202374	broad.mit.edu	37	chr5	146750222	146750222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttctcccttaagagaccGtatcatattcgctccagtac	9	14	5	13	2	2	1	1	0	1	1	5	2	3	1	3	0	1	3	3	0	4	7			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:146750222G>A	uc011dbw.1	+	8	946	c.666G>A	c.(664-666)ccG>ccA	p.P222P	STK32A_uc003lom.2_Silent_p.P222P|STK32A_uc010jgn.1_Silent_p.P222P	NM_001112724	NP_001106195	Q8WU08	ST32A_HUMAN	Homo sapiens serine/threonine kinase 32A (STK32A), transcript variant 1, mRNA.	222	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTAAGAGACCGTATCATATTC	0.378													A	146750222	G	A	146750222	2	1	254	1	0	0	0	0	0	0	0	1	15393	1132	40	1		1	STK32A	5	146750222	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08	113975364	146750222	34165038	9	17791											
ABLIM3	22885	broad.mit.edu	37	chr5	148619445	148619445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctcaccactactacCgctctggtaaggaaggggga	10	7	11	13	1	3	0	2	0	1	0	3	2	3	2	3	4	2	3	3	4	4	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr5:148619445C>T	uc003lpy.2	+	12	1449	c.1198C>T	c.(1198-1200)Cgc>Tgc	p.R400C	ABLIM3_uc003lpz.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqa.1_Missense_Mutation_p.R346C|ABLIM3_uc003lqb.3_Missense_Mutation_p.R338C|ABLIM3_uc003lqc.1_Missense_Mutation_p.R400C|ABLIM3_uc003lqd.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqe.1_Missense_Mutation_p.R338C|ABLIM3_uc003lqf.3_Missense_Mutation_p.R338C	NM_014945	NP_055760	O94929	ABLM3_HUMAN	Homo sapiens actin binding LIM protein family, member 3 (ABLIM3), mRNA.	400					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCACTACTACCGCTCTGGTAA	0.647													T	148619445	C	T	148619445	3	4	254	1	0	0	0	0	1	0	0	0	96	652	23	1	1244	1	ABLIM3	5	148619445	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	1869223	148619445	32295815	10	17792											
HLA-G	3136	broad.mit.edu	37	chr6	29855999	29855999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctactacaaccagagcgaggGcggtgagtgaccccggcccg	9	4	14	14	4	0	3	0	2	0	1	0	4	0	3	4	3	4	0	4	3	3	2	rs113415054	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:29855999G>A	uc010jro.3	+	1	493	c.347G>A	c.(346-348)gGc>gAc	p.G116D	HLA-G_uc021ytw.1_Intron|HLA-G_uc011dmb.2_Intron|HLA-J_uc021yty.1_5'Flank|HLA-G_uc021ytv.1_Intron|HLA-J_uc021ytx.1_5'Flank			P17693	HLAG_HUMAN	Homo sapiens major histocompatibility complex, class I, H (pseudogene) (HLA-H), non-coding RNA.	114	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CAGAGCGAGGGCGGTGAGTGA	0.667													A	29855999	G	A	29855999	3	1	254	1	0	0	0	0	1	0	0	0	7267	1218	42	2		2	HLA-G	6	29855999	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		29855999	141259068	11	17793											
MYO6	4646	broad.mit.edu	37	chr6	76566831	76566834	+	Frame_Shift_Del	DEL	AGCA	AGCA	-																															tagggtacctctgaaagtggAgcaagcaaacaatgctcgtg																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr6:76566831_76566834delAGCA	uc003pih.1	+	12	1520_1523	c.1241_1244delAGCA	c.(1240-1245)gagcaafs	p.E414fs	MYO6_uc003pig.1_Frame_Shift_Del_p.E414fs|MYO6_uc003pii.1_Frame_Shift_Del_p.E414fs	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	414	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CTGAAAGTGGAGCAAGCAAACAAT	0.377													-	76566834	AGCA	-	76566831	7	5	254	1	0	1	0	1	0	0	0	0	10157	304	11	0	1287	0	MYO6	6	76566831	Frame_Shift_Del	DEL	AGCA	TCGA-74-6577-01A-11D-1845-08	46710832	76566831	94548236	12	17794											
PKD1L1	168507	broad.mit.edu	37	chr7	47869692	47869692	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggagagggacagcaggtgCagccactgcacacattgctc	11	5	13	12	1	0	1	0	0	0	1	1	3	0	2	1	3	5	4	1	3	0	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:47869692C>T	uc003tny.2	-	42	6538	c.6504G>A	c.(6502-6504)ctG>ctA	p.L2168L	C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_5'Flank	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2168					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGGTGCAGCCACTGCA	0.577													T	47869692	C	T	47869692	2	4	254	1	0	0	0	0	0	0	0	1	12041	697	25	2		2	PKD1L1	7	47869692	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08		47869692	111268971	13	17795											
ZP3	7784	broad.mit.edu	37	chr7	76054396	76054396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccatcctgagacgtccGtacagcccgtactggtggag	8	7	12	14	3	0	1	0	1	0	1	2	3	2	2	5	2	4	2	5	2	2	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:76054396G>A	uc003ufd.4	+	0	125	c.115G>A	c.(115-117)Gta>Ata	p.V39I	ZP3_uc003ufc.4_5'UTR	NM_001110354	NP_009086	P21754	ZP3_HUMAN	Homo sapiens zona pellucida glycoprotein 3 (sperm receptor) (ZP3), transcript variant 1, mRNA.	39					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						TGAGACGTCCGTACAGCCCGT	0.592													A	76054396	G	A	76054396	3	1	254	1	0	0	0	0	1	0	0	0	18316	1145	40	1	117	1	ZP3	7	76054396	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	28184704	76054396	83084267	14	17796											
RBM28	55131	broad.mit.edu	37	chr7	127954955	127954956	+	Missense_Mutation	DNP	GG	GG	TT																															ccgcctttctcttctgctctGggggcaccttgctttgttcc																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:127954955_127954956GG>TT	uc003vmp.2	-	16	2021_2022	c.1906_1907CC>AA	c.(1906-1908)cca>AAa	p.P636K	RBM28_uc011koj.1_Missense_Mutation_p.P495K	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	636					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTTCTGCTCTGGGGGCACCTTG	0.564													TT	127954956	GG	TT	127954955	3	4	254	1	0	0	0	0	1	0	0	0	13216	1348	47	4	384	4	RBM28	7	127954955	Missense_Mutation	DNP	GG	TCGA-74-6577-01A-11D-1845-08	51900559	127954955	31183708	15	17797											
MLL3	58508	broad.mit.edu	37	chr7	151945253	151945253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taactttatagatttgcctcCttggtatgaaacatctttca	11	17	5	8	0	2	2	1	1	1	1	3	2	3	2	2	1	3	1	2	1	5	8			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:151945253C>T	uc003wla.3	-	13	2485	c.2266G>A	c.(2266-2268)Gga>Aga	p.G756R		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	756					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding	p.G756A(1)		NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GATTTGCCTCCTTGGTATGAA	0.393			N		medulloblastoma								T	151945253	C	T	151945253	3	4	254	1	0	0	0	0	1	0	0	0	9697	690	24	2	12653	2	MLL3	7	151945253	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	23990298	151945253	7193410	16	17798											
PTPRN2	5799	broad.mit.edu	37	chr7	157985120	157985120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggtggcgtcggagggCgttggccagggcagcaccgc	5	4	21	11	4	0	0	0	0	0	0	1	1	0	1	2	7	1	4	2	7	0	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr7:157985120C>T	uc003wno.3	-	4	569	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	PTPRN2_uc003wnp.3_Missense_Mutation_p.A133T|PTPRN2_uc003wnq.3_Missense_Mutation_p.A150T|PTPRN2_uc003wnr.3_Missense_Mutation_p.A112T|PTPRN2_uc011kwa.2_Missense_Mutation_p.A173T	NM_002847	NP_002838	Q92932	PTPR2_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, N polypeptide 2 (PTPRN2), transcript variant 1, mRNA.	150						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		CGTCGGAGGGCGTTGGCCAGG	0.652													T	157985120	C	T	157985120	3	4	254	1	0	0	0	0	1	0	0	0	12896	768	27	1	2675	1	PTPRN2	7	157985120	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	6039867	157985120	1153543	17	17799											
VPS13B	157680	broad.mit.edu	37	chr8	100821739	100821739	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcaaggttcagcaacTcaatggagtacaaaaacagg	17	7	8	9	0	4	0	4	0	0	0	4	1	4	1	0	3	4	3	0	3	6	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr8:100821739T>C	uc003yiv.3	+	43	8264	c.8153T>C	c.(8152-8154)cTc>cCc	p.L2718P	VPS13B_uc003yiw.3_Missense_Mutation_p.L2693P	NM_017890	NP_060360	Q7Z7G8	VP13B_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog B (yeast) (VPS13B), transcript variant 5, mRNA.	2718					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GTTCAGCAACTCAATGGAGTA	0.383													C	100821739	T	C	100821739	3	2	254	1	0	0	0	0	1	0	0	0	17292	1551	54	3	8517	3	VPS13B	8	100821739	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08		100821739	45542283	18	17800											
PRUNE2	158471	broad.mit.edu	37	chr9	79324782	79324782	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcatgatcttctttaccaAatgcactccaggctgggaat	11	12	7	11	0	3	1	1	1	2	0	4	2	4	2	2	2	2	2	2	2	3	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:79324782A>T	uc010mpk.3	-	7	2532	c.2408T>A	c.(2407-2409)tTt>tAt	p.F803Y	PRUNE2_uc022bih.1_Missense_Mutation_p.F625Y	NM_015225	NP_056040	Q8WUY3	PRUN2_HUMAN	Homo sapiens prune homolog 2 (Drosophila) (PRUNE2), mRNA.	803					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TTCTTTACCAAATGCACTCCA	0.517													T	79324782	A	T	79324782	3	4	254	1	0	0	0	0	1	0	0	0	12726	14	1	5	6906	5	PRUNE2	9	79324782	Missense_Mutation	SNP	A	TCGA-74-6577-01A-11D-1845-08		79324782	61888649	19	17801											
SVEP1	79987	broad.mit.edu	37	chr9	113171158	113171158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcttggcagacaaatacaGgacttccgactgacttatag	12	10	10	9	1	0	2	0	1	0	1	1	4	1	3	1	3	1	2	1	3	4	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:113171158G>A	uc010mtz.3	-	37	7059	c.6722C>T	c.(6721-6723)cCt>cTt	p.P2241L	SVEP1_uc010mty.3_Missense_Mutation_p.P167L	NM_153366	NP_699197	Q4LDE5	SVEP1_HUMAN	Homo sapiens sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1 (SVEP1), mRNA.	2241	Sushi 14.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GACAAATACAGGACTTCCGAC	0.507													A	113171158	G	A	113171158	3	1	254	1	0	0	0	0	1	0	0	0	15516	1000	35	2	4037	2	SVEP1	9	113171158	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	33846376	113171158	28042273	20	17802											
C9orf84	158401	broad.mit.edu	37	chr9	114475419	114475419	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaatgagaaaatgtttttCaccgtctgagtccattctta	11	17	6	7	1	3	2	1	2	2	1	4	3	4	2	2	0	0	1	2	0	4	6			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:114475419C>G	uc004bfr.3	-	15	2392	c.2257G>C	c.(2257-2259)Gaa>Caa	p.E753Q	C9orf84_uc011lwt.2_Non-coding_Transcript|C9orf84_uc004bfq.3_Missense_Mutation_p.E714Q|C9orf84_uc010mug.3_Missense_Mutation_p.E664Q	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	753										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGTTTTTCACCGTCTGAG	0.259													G	114475419	C	G	114475419	3	3	254	1	0	0	0	0	1	0	0	0	2526	835	29	4	2121	4	C9orf84	9	114475419	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	1304261	114475419	26738012	21	17803											
PAPPA	5069	broad.mit.edu	37	chr9	118982397	118982397	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccacctatagatggccaTttctttgaaaggtgagtgtg	9	14	10	8	0	1	3	0	2	1	1	2	3	2	3	3	2	0	0	3	2	3	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr9:118982397T>C	uc004bjn.3	+	4	2481	c.2100T>C	c.(2098-2100)caT>caC	p.H700H	PAPPA_uc011lxp.1_Silent_p.H395H|PAPPA_uc011lxq.2_Intron	NM_002581	NP_002572	Q13219	PAPP1_HUMAN	Homo sapiens pregnancy-associated plasma protein A, pappalysin 1 (PAPPA), mRNA.	700					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						TAGATGGCCATTTCTTTGAAA	0.547													C	118982397	T	C	118982397	2	2	254	1	0	0	0	0	0	0	0	1	11508	1490	52	3		3	PAPPA	9	118982397	Silent	SNP	T	TCGA-74-6577-01A-11D-1845-08	4506978	118982397	22231034	22	17804											
PTEN	5728	broad.mit.edu	37	chr10	89720855	89720856	+	Frame_Shift_Ins	INS	-	-	A																															taaagacaaagccaaccgatINSacttttctccaaattttaag																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr10:89720855_89720856insA	uc001kfb.3	+	7	2038_2039	c.1006_1007insA	c.(1006-1008)tacfs	p.Y336fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	336	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.Y336*(6)|p.R55fs*1(5)|p.R335fs*8(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R335fs*4(2)|p.R335fs*7(2)|p.W274_F341del(2)|p.Y336F(2)|p.D326_K342del(2)|p.G165_*404del(1)|p.G165_K342del(1)|p.R335G(1)|p.R335R(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGCCAACCGATACTTTTCTCCA	0.337		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720856	-	A	89720855	7	5	254	1	0	1	1	0	0	0	0	0	12823	1406	49	0	1036	0	PTEN	10	89720855	Frame_Shift_Ins	INS	-	TCGA-74-6577-01A-11D-1845-08		89720855	45813892	23	17805											
USH1C	10083	broad.mit.edu	37	chr11	17519716	17519716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttattcttaccccgcccTgattccaggccttctgcagg	5	12	8	16	1	2	1	0	1	2	0	3	1	3	1	6	2	2	1	6	2	2	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:17519716T>C	uc001mnf.3	-	18	1692	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R	USH1C_uc001mne.3_Missense_Mutation_p.Q828R|USH1C_uc009yhb.3_Missense_Mutation_p.Q509R|USH1C_uc001mng.3_Non-coding_Transcript|USH1C_uc001mnd.3_Missense_Mutation_p.Q492R	NM_005709	NP_005700	Q9Y6N9	USH1C_HUMAN	Homo sapiens Usher syndrome 1C (autosomal recessive, severe) (USH1C), transcript variant 1, mRNA.	528	PDZ 3.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						TACCCCGCCCTGATTCCAGGC	0.577													C	17519716	T	C	17519716	3	2	254	1	0	0	0	0	1	0	0	0	17136	1580	55	3	232	3	USH1C	11	17519716	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08		17519716	117486800	24	17806											
SLC43A3	5553	broad.mit.edu	37	chr11	57155245	57155245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgggtacacagggccaCgcagtgaccaccgcgggacc	9	3	13	16	4	0	1	0	1	0	0	1	2	0	2	5	3	1	2	5	3	1	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr11:57155245C>T	uc001nkc.3	-	4	666	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	SLC43A3_uc001nkd.3_Missense_Mutation_p.V187M|SLC43A3_uc001nke.3_Missense_Mutation_p.V478M	NM_002728	NP_002719	Q8NBI5	S43A3_HUMAN	Homo sapiens proteoglycan 2, bone marrow (natural killer cell activator, eosinophil granule major basic protein) (PRG2), transcript variant 1, mRNA.	0					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CACAGGGCCACGCAGTGACCA	0.617													T	57155245	C	T	57155245	3	4	254	1	0	0	0	0	1	0	0	0	14728	536	19	1		1	SLC43A3	11	57155245	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	39635529	57155245	77851271	25	17807											
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:25398284C>T	uc001rgp.1	-	1	216	c.35G>A	c.(34-36)gGt>gAt	p.G12D	KRAS_uc001rgq.1_Missense_Mutation_p.G12D|KRAS_uc001rgr.3_Non-coding_Transcript|DD157417_uc021qwd.1_Non-coding_Transcript	NM_033360	NP_203524	P01116	RASK_HUMAN	Homo sapiens v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS), transcript variant a, mRNA.	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(17126)|p.G12V(11533)|p.G12C(2976)|p.G12A(2808)|p.G12S(1288)|p.G12R(790)|p.G12F(96)|p.G12?(57)|p.G12L(17)|p.G12G(9)|p.G12I(8)|p.G12N(7)|p.G12W(7)|p.G12E(6)|p.G10_A11insG(5)|p.G12_G13insG(4)|p.G12Y(4)|p.A11V(3)|p.A11P(2)|p.A11_G12insGA(2)|p.G12fs*3(2)|p.A11A(1)|p.G12_G13insA(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			T	25398284	C	T	25398284	3	4	254	1	0	0	0	0	1	0	0	0	8496	507	18	2	671	2	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		25398284	108453611	26	17808											
AQP2	359	broad.mit.edu	37	chr12	50344911	50344911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgggggctgtggccGgagccgctctgctccatgag	4	8	17	12	2	1	1	0	1	1	0	2	2	2	2	3	4	4	5	3	4	0	0			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:50344911G>A	uc001rvn.3	+	0	388	c.298G>A	c.(298-300)Gga>Aga	p.G100R		NM_000486	NP_000477	P41181	AQP2_HUMAN	Homo sapiens aquaporin 2 (collecting duct) (AQP2), mRNA.	100			G -> R (in ANDI).|G -> V (in ANDI; dbSNP:rs28929477).		cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCTGTGGCCGGAGCCGCTCT	0.647													A	50344911	G	A	50344911	3	1	254	1	0	0	0	0	1	0	0	0	829	1117	39	1	300	1	AQP2	12	50344911	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	24946627	50344911	83506984	27	17809											
NACA	4666	broad.mit.edu	37	chr12	57108166	57108166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccgtgccttcttttcacTccgactctgttttgctttac	3	19	5	14	2	3	0	1	0	2	0	5	1	5	0	3	0	3	2	3	0	1	8			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr12:57108166T>C	uc001sly.2	-	3	537	c.214A>G	c.(214-216)Agt>Ggt	p.S72G	NACA_uc021qze.1_Missense_Mutation_p.S1935G|NACA_uc001slz.2_Missense_Mutation_p.S72G|NACA_uc001sma.2_Missense_Mutation_p.S782G|NACA_uc001smc.2_Missense_Mutation_p.S72G|NACA_uc010squ.1_Intron	NM_001113202	NP_001106673	Q13765	NACA_HUMAN	Homo sapiens nascent polypeptide-associated complex alpha subunit (NACA), transcript variant 4, mRNA.	72	NAC-A/B.|Required for DNA-binding (By similarity).				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTCTTTTCACTCCGACTCTGT	0.393			T	BCL6	NHL								C	57108166	T	C	57108166	3	2	254	1	0	0	0	0	1	0	0	0	10209	1551	54	3	453	3	NACA	12	57108166	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08	6763255	57108166	76743729	28	17810											
OR4K2	390431	broad.mit.edu	37	chr14	20345324	20345324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaaagatagccatgaggAaactgaaaaataggtttcta	19	9	9	4	0	1	3	0	2	1	1	1	4	1	4	1	2	2	2	1	2	9	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20345324A>G	uc001vwh.1	+	0	898	c.898A>G	c.(898-900)Aaa>Gaa	p.K300E		NM_001005501	NP_001005501	Q8NGD2	OR4K2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 2 (OR4K2), mRNA.	300					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R299S(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGCCATGAGGAAACTGAAAAA	0.348													G	20345324	A	G	20345324	3	3	254	1	0	0	0	0	1	0	0	0	11148	247	9	3	900	3	OR4K2	14	20345324	Missense_Mutation	SNP	A	TCGA-74-6577-01A-11D-1845-08		20345324	87004216	29	17811											
TTC5	91875	broad.mit.edu	37	chr14	20760171	20760171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgaattcggtgaagccGcaggttgggctcaggaatgg	8	9	17	7	2	1	2	1	2	0	0	2	3	1	3	1	5	2	4	1	5	3	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:20760171G>A	uc001vwt.3	-	8	1231	c.1174C>T	c.(1174-1176)Cgg>Tgg	p.R392W	TTC5_uc001vwu.3_Missense_Mutation_p.R249W	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	392					DNA repair	cytoplasm|nucleus	binding	p.R392Q(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGGTGAAGCCGCAGGTTGGGC	0.453													A	20760171	G	A	20760171	3	1	254	1	0	0	0	0	1	0	0	0	16813	1086	38	1	156	1	TTC5	14	20760171	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	414847	20760171	86589369	30	17812											
LTB4R2	56413	broad.mit.edu	37	chr14	24779987	24779987	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctgcctggcaacggCttcgtggtgtggagcttggc	3	10	18	10	2	0	0	0	0	0	0	1	1	0	1	1	7	3	4	1	7	1	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:24779987C>A	uc021rrp.1	+	0	117	c.117C>A	c.(115-117)ggC>ggA	p.G39G	CIDEB_uc001won.3_5'Flank|CIDEB_uc001woo.3_5'UTR|CIDEB_uc001wop.3_5'UTR|LTB4R2_uc010alo.3_Silent_p.G39G|LTB4R2_uc001wor.3_Silent_p.G39G|LTB4R_uc001wos.3_5'Flank|LTB4R_uc010alp.3_5'Flank	NM_019839	NP_062813	Q9NPC1	LT4R2_HUMAN	Homo sapiens leukotriene B4 receptor 2 (LTB4R2), transcript variant 1, mRNA.	70					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		CTGGCAACGGCTTCGTGGTGT	0.726													A	24779987	C	A	24779987	2	1	254	1	0	0	0	0	0	0	0	1	9142	784	28	4		4	LTB4R2	14	24779987	Silent	SNP	C	TCGA-74-6577-01A-11D-1845-08	4019816	24779987	82569553	31	17813											
BAZ1A	11177	broad.mit.edu	37	chr14	35331298	35331298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtttcttcgacaaaatatCgatccttgacatatgcaaag	14	12	6	9	2	1	1	0	1	1	0	4	3	2	1	1	0	1	2	1	0	5	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr14:35331298C>T	uc001wsk.3	-	2	912	c.344G>A	c.(343-345)cGa>cAa	p.R115Q	BAZ1A_uc001wsl.3_Missense_Mutation_p.R115Q|BAZ1A_uc001wsm.1_Missense_Mutation_p.R115Q	NM_013448	NP_038476	Q9NRL2	BAZ1A_HUMAN	Homo sapiens bromodomain adjacent to zinc finger domain, 1A (BAZ1A), transcript variant 1, mRNA.	115	Required for association with the CHRAC1/POLE3 complex.|Required for interaction with NCOR1.|WAC.				chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GACAAAATATCGATCCTTGAC	0.358													T	35331298	C	T	35331298	3	4	254	1	0	0	0	0	1	0	0	0	1334	884	31	1	4426	1	BAZ1A	14	35331298	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	10551311	35331298	72018242	32	17814											
GJD2	57369	broad.mit.edu	37	chr15	35045056	35045056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacttggataatgtagaagcGggagatgccttcctgccttc	9	11	11	10	1	0	2	0	0	0	2	2	4	1	3	3	2	3	1	3	2	3	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:35045056G>A	uc001zis.1	-	1	589	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	AK092087_uc001zit.1_5'Flank	NM_020660	NP_065711	Q9UKL4	CXD2_HUMAN	Homo sapiens gap junction protein, delta 2, 36kDa (GJD2), mRNA.	197					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	19		all_lung(180;9.67e-07)		all cancers(64;2.75e-18)|GBM - Glioblastoma multiforme(113;1.9e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0156)		ATGTAGAAGCGGGAGATGCCT	0.483													A	35045056	G	A	35045056	3	1	254	1	0	0	0	0	1	0	0	0	6473	1116	39	1	380	1	GJD2	15	35045056	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		35045056	67486336	33	17815											
BAHD1	22893	broad.mit.edu	37	chr15	40750942	40750942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggctgatgagctaccGcctgacctgcccaagccccc	8	6	11	16	1	0	4	0	4	0	0	0	5	0	4	6	1	4	2	6	1	2	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:40750942G>A	uc001zlu.2	+	1	350	c.279G>A	c.(277-279)ccG>ccA	p.P93P	BAHD1_uc001zlt.2_Silent_p.P93P|BAHD1_uc010bbp.1_Silent_p.P93P|BAHD1_uc001zlv.2_Silent_p.P93P	NM_014952	NP_055767	Q8TBE0	BAHD1_HUMAN	Homo sapiens bromo adjacent homology domain containing 1 (BAHD1), mRNA.	93					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		ATGAGCTACCGCCTGACCTGC	0.662													A	40750942	G	A	40750942	2	1	254	1	0	0	0	0	0	0	0	1	1302	1074	38	1		1	BAHD1	15	40750942	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08	5705886	40750942	61780450	34	17816											
STRC	161497	broad.mit.edu	37	chr15	43893602	43893602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagtgttacctgagtggTgctccagccatctatctgcc	9	11	10	11	0	2	1	0	1	2	0	3	2	3	1	4	1	4	2	4	1	4	2	rs141809944		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr15:43893602T>C	uc001zsf.3	-	23	4771	c.4693A>G	c.(4693-4695)Acc>Gcc	p.T1565A	STRC_uc010bdl.3_Missense_Mutation_p.T792A|STRC_uc001zse.3_Missense_Mutation_p.T83A	NM_153700	NP_714544	Q7RTU9	STRC_HUMAN	Homo sapiens stereocilin (STRC), mRNA.	1565					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		ACCTGAGTGGTGCTCCAGCCA	0.522													C	43893602	T	C	43893602	3	2	254	1	0	0	0	0	1	0	0	0	15424	1696	59	3	658	3	STRC	15	43893602	Missense_Mutation	SNP	T	TCGA-74-6577-01A-11D-1845-08	3142660	43893602	58637790	35	17817											
SEC14L5	9717	broad.mit.edu	37	chr16	5058451	5058451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatcctggaaggagagtcGgtcatcacctgggactttga	10	9	14	8	1	2	3	2	1	0	2	4	7	3	5	2	4	0	0	2	4	1	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr16:5058451G>A	uc002cye.2	+	13	1782	c.1602G>A	c.(1600-1602)tcG>tcA	p.S534S		NM_014692	NP_055507	O43304	S14L5_HUMAN	Homo sapiens SEC14-like 5 (S. cerevisiae) (SEC14L5), mRNA.	534	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						AAGGAGAGTCGGTCATCACCT	0.642													A	5058451	G	A	5058451	2	1	254	1	0	0	0	0	0	0	0	1	14078	1103	39	1		1	SEC14L5	16	5058451	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08		5058451	85296302	36	17818											
APPBP2	10513	broad.mit.edu	37	chr17	58603208	58603208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggagcggatgtctcggcGggagcggatgtagttgtcca	8	8	17	8	4	1	0	0	0	1	0	3	4	2	4	1	5	2	2	1	5	2	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:58603208G>A	uc002iys.1	-	0	373	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	APPBP2_uc010ddl.1_5'UTR	NM_006380	NP_006371	Q92624	APBP2_HUMAN	Homo sapiens amyloid beta precursor protein (cytoplasmic tail) binding protein 2 (APPBP2), mRNA.	29					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			ATGTCTCGGCGGGAGCGGATG	0.592													A	58603208	G	A	58603208	3	1	254	1	0	0	0	0	1	0	0	0	819	1116	39	1	1724	1	APPBP2	17	58603208	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		58603208	22592002	37	17819											
CD300LD	100131439	broad.mit.edu	37	chr17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgggtgctcttgagcGgggacctgtgggaacacggt	7	8	19	7	2	1	1	0	1	1	0	1	4	1	4	1	6	3	1	1	6	2	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr17:72576247G>A	uc002jkz.2	-	3	508	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152	NP_001108624	Q6UXZ3	CLM4_HUMAN	Homo sapiens CD300 molecule-like family member d (CD300LD), mRNA.	160						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													A	72576247	G	A	72576247	3	1	254	1	0	0	0	0	1	0	0	0	3030	1116	39	1	109	1	CD300LD	17	72576247	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	13973039	72576247	8618963	38	17820											
SERPINB7	8710	broad.mit.edu	37	chr18	61471645	61471645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatgaatccaaagcagatCtctctgggattgcttcgggg	9	12	12	8	1	2	3	0	2	2	1	5	4	3	4	1	3	2	2	1	3	2	3			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:61471645C>T	uc002ljl.3	+	7	1015	c.919C>T	c.(919-921)Ctc>Ttc	p.L307F	SERPINB7_uc002ljm.3_Missense_Mutation_p.L307F|SERPINB7_uc010xet.2_Missense_Mutation_p.L290F|SERPINB7_uc010dqg.3_Missense_Mutation_p.L307F	NM_001040147	NP_003775	O75635	SPB7_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 7 (SERPINB7), transcript variant 2, mRNA.	307					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CAAAGCAGATCTCTCTGGGAT	0.433													T	61471645	C	T	61471645	3	4	254	1	0	0	0	0	1	0	0	0	14199	913	32	2	945	2	SERPINB7	18	61471645	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08		61471645	16605603	39	17821											
ATP9B	374868	broad.mit.edu	37	chr18	77037059	77037059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttatttggcagtttgcGtgtgaacttggacatgggca	7	15	14	5	1	0	1	0	1	0	0	0	2	0	2	0	4	2	4	0	4	2	5	rs149013492		TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr18:77037059G>A	uc002lmx.3	+	12	1288	c.1274G>A	c.(1273-1275)cGt>cAt	p.R425H	ATP9B_uc002lmv.1_Non-coding_Transcript|ATP9B_uc002lmw.1_Missense_Mutation_p.R425H|ATP9B_uc002lmy.1_Non-coding_Transcript|ATP9B_uc002lmz.1_Missense_Mutation_p.R119H	NM_198531	NP_940933	O43861	ATP9B_HUMAN	Homo sapiens ATPase, class II, type 9B (ATP9B), mRNA.	425					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		GGCAGTTTGCGTGTGAACTTG	0.493													A	77037059	G	A	77037059	3	1	254	1	0	0	0	0	1	0	0	0	1204	1145	40	1	1324	1	ATP9B	18	77037059	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	15565414	77037059	1040189	40	17822											
S1PR2	9294	broad.mit.edu	37	chr19	10335447	10335447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttttccaccacaatggcGcaacagaggatgacgatgaa	14	7	11	9	2	0	3	0	2	0	1	1	5	1	4	2	3	1	2	2	3	3	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:10335447G>A	uc002mnl.2	-	1	246	c.135C>T	c.(133-135)tgC>tgT	p.C45C	S1PR2_uc021uos.1_Silent_p.C45C	NM_004230	NP_004221	O95136	S1PR2_HUMAN	Homo sapiens sphingosine-1-phosphate receptor 2 (S1PR2), mRNA.	45					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						CCACAATGGCGCAACAGAGGA	0.567													A	10335447	G	A	10335447	2	1	254	1	0	0	0	0	0	0	0	1	13885	1079	38	1		1	S1PR2	19	10335447	Silent	SNP	G	TCGA-74-6577-01A-11D-1845-08		10335447	48793536	41	17823											
CILP2	148113	broad.mit.edu	37	chr19	19655680	19655680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttctccgccaaccccCgtgcctggggccgctttgac	3	8	11	19	4	1	1	0	1	1	0	2	1	1	1	7	3	2	2	7	3	1	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:19655680C>T	uc002nmw.4	+	7	2429	c.2344C>T	c.(2344-2346)Cgt>Tgt	p.R782C	CILP2_uc002nmv.4_Missense_Mutation_p.R776C	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	776						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGCCAACCCCCGTGCCTGGGG	0.711													T	19655680	C	T	19655680	3	4	254	1	0	0	0	0	1	0	0	0	3460	652	23	1	2356	1	CILP2	19	19655680	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	9320233	19655680	39473303	42	17824											
LILRB3	11026	broad.mit.edu	37	chr19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggctcacggggcccaCggagaagatggcccgggatg	8	5	17	11	3	1	2	1	0	0	2	1	4	1	3	2	6	0	1	2	6	1	1			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:54803127C>T	uc002qfd.3	-	3	642	c.550G>A	c.(550-552)Gtg>Atg	p.V184M	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Intron	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	183	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity	p.V184M(1)		endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567													T	54803127	C	T	54803127	3	4	254	1	0	0	0	0	1	0	0	0	8852	536	19	1		1	LILRB3	19	54803127	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	35147447	54803127	4325856	43	17825											
NLRP4	147945	broad.mit.edu	37	chr19	56382302	56382302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgccaatgtcctgaaggacGaaggactgaaaactctctgc	12	8	11	10	1	1	2	0	2	1	0	3	5	2	4	2	2	3	0	2	2	5	0	rs140263319	by1000genomes	TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr19:56382302G>A	uc002qmd.4	+	6	2886	c.2464G>A	c.(2464-2466)Gaa>Aaa	p.E822K	NLRP4_uc002qmf.3_Missense_Mutation_p.E747K|NLRP4_uc010etf.3_Missense_Mutation_p.E597K	NM_134444	NP_604393	Q96MN2	NALP4_HUMAN	Homo sapiens NLR family, pyrin domain containing 4 (NLRP4), mRNA.	822							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCTGAAGGACGAAGGACTGAA	0.512													A	56382302	G	A	56382302	3	1	254	1	0	0	0	0	1	0	0	0	10555	1059	37	1	2486	1	NLRP4	19	56382302	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08	1579175	56382302	2746681	44	17826											
RBCK1	10616	broad.mit.edu	37	chr20	390566	390566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacccgagcagtggcgggcGgggatgaacaggtggcaatg	9	5	18	9	3	1	1	1	1	0	0	1	3	1	2	1	6	2	2	1	6	2	0			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr20:390566G>A	uc002wdp.4	+	1	757	c.64G>A	c.(64-66)Ggg>Agg	p.G22R	RBCK1_uc010zpl.1_Missense_Mutation_p.G22R|RBCK1_uc010zpm.1_Non-coding_Transcript|RBCK1_uc002wdq.4_Intron|RBCK1_uc010fzy.3_Non-coding_Transcript|RBCK1_uc002wdr.4_Intron|RBCK1_uc002wdo.3_Non-coding_Transcript	NM_031229	NP_112506	Q9BYM8	HOIL1_HUMAN	Homo sapiens RanBP-type and C3HC4-type zinc finger containing 1 (RBCK1), transcript variant 2, mRNA.	22	Interaction with IRF3.|Interaction with TAB2.				interspecies interaction between organisms|negative regulation of NF-kappaB transcription factor activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|proteasomal ubiquitin-dependent protein catabolic process|protein linear polyubiquitination|T cell receptor signaling pathway	LUBAC complex	protein binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(4)	5		all_epithelial(17;0.172)|Lung NSC(37;0.191)|Breast(17;0.231)				AGTGGCGGGCGGGGATGAACA	0.582													A	390566	G	A	390566	3	1	254	1	0	0	0	0	1	0	0	0	13195	1116	39	1	89	1	RBCK1	20	390566	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		390566	62634954	45	17827											
COL18A1	80781	broad.mit.edu	37	chr21	46897864	46897864	+	Frame_Shift_Del	DEL	A	A	-																															gggagggacggcacccctggAagggacggcgagccggtgag																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chr21:46897864delA	uc002zhi.3	+	6	1767	c.1746delA	c.(1744-1746)ggafs	p.G582fs	COL18A1_uc002zhg.3_Frame_Shift_Del_p.G402fs	NM_030582	NP_085059	P39060	COIA1_HUMAN	Homo sapiens collagen, type XVIII, alpha 1 (COL18A1), transcript variant 1, mRNA.	817	TSP N-terminal.				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCACCCCTGGAAGGGACGGCG	0.726													-	46897864	A	-	46897864	7	5	254	1	0	1	0	1	0	0	0	0	3706	233	9	0	2591	0	COL18A1	21	46897864	Frame_Shift_Del	DEL	A	TCGA-74-6577-01A-11D-1845-08		46897864	1232031	46	17828											
FAM47C	442444	broad.mit.edu	37	chrX	37027712	37027712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggagcctcccaagactcGcatatctaatctccgctcgg	8	8	8	17	4	2	1	0	0	2	1	6	2	3	2	4	2	1	2	4	2	3	2			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:37027712G>A	uc004ddl.2	+	0	1281	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_001013736	NP_001013758	Q5HY64	FA47C_HUMAN	Homo sapiens family with sequence similarity 47, member C (FAM47C), mRNA.	410								p.R410L(3)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAAGACTCGCATATCTAAT	0.607													A	37027712	G	A	37027712	3	1	254	1	0	0	0	0	1	0	0	0	5622	1087	38	1	1231	1	FAM47C	23	37027712	Missense_Mutation	SNP	G	TCGA-74-6577-01A-11D-1845-08		37027712	118242848	47	17829											
DDX3X	1654	broad.mit.edu	37	chrX	41206682	41206683	+	In_Frame_Ins	INS	-	-	AGC																															gtggcggaggtggccacggtINSagcagcagaggatttggtgg																										TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:41206682_41206683insAGC	uc004dfe.3	+	15	2742_2743	c.1887_1888insAGC	c.(1885-1890)insAGC	p.631_632insS	DDX3X_uc011mks.2_Intron|DDX3X_uc004dff.3_In_Frame_Ins_p.630_631insS|DDX3X_uc011mkq.2_In_Frame_Ins_p.615_616insS|DDX3X_uc011mkr.2_In_Frame_Ins_p.501_502insS|DDX3X_uc004dfg.3_Non-coding_Transcript	NM_001356	NP_001347	O00571	DDX3X_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, X-linked (DDX3X), transcript variant 1, mRNA.	631	Gly/Ser-rich.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding	p.R632I(1)		NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						gtggccacggtagcagcagAGG	0.505										HNSCC(61;0.18)			AGC	41206683	-	AGC	41206682	7	5	254	1	0	1	1	0	0	0	0	0	4392	1625	57	0	1949	0	DDX3X	23	41206682	In_Frame_Ins	INS	-	TCGA-74-6577-01A-11D-1845-08	4178970	41206682	114063878	48	17830											
STAG2	10735	broad.mit.edu	37	chrX	123197784	123197784	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagcatgttctaaaacttaCcatgcactctgtaatgaaga	15	11	7	8	0	2	2	0	1	2	1	2	3	2	2	1	0	4	4	1	0	6	4			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:123197784C>G	uc004eua.3	+	19	2312	c.1908C>G	c.(1906-1908)taC>taG	p.Y636*	STAG2_uc004etz.4_Nonsense_Mutation_p.Y636*|STAG2_uc004eub.3_Nonsense_Mutation_p.Y636*|STAG2_uc004euc.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eud.3_Nonsense_Mutation_p.Y636*|STAG2_uc004eue.3_Nonsense_Mutation_p.Y636*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	636					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CTAAAACTTACCATGCACTCT	0.363													G	123197784	C	G	123197784	4	3	254	1	0	0	0	0	0	1	0	0	15339	518	18	4	1978	4	STAG2	23	123197784	Nonsense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	81991102	123197784	32072776	49	17831											
FRMD7	90167	broad.mit.edu	37	chrX	131216403	131216403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattacctatagcggaaaCtggaacccttgctgcagagt	12	11	9	9	1	0	1	0	0	0	1	0	3	0	3	2	2	6	2	2	2	6	5			TCGA-74-6577-01A-11D-1845-08	TCGA-74-6577-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5be142d5-b6f7-4e1e-ae75-49b302b332a2	71a36569-7ec1-44fc-8a74-60291e49ec6b	g.chrX:131216403C>A	uc004ewn.3	-	8	1071	c.893G>T	c.(892-894)aGt>aTt	p.S298I	FRMD7_uc022cdy.1_Missense_Mutation_p.S178I|FRMD7_uc011muy.2_Missense_Mutation_p.S283I	NM_194277	NP_919253	Q6ZUT3	FRMD7_HUMAN	Homo sapiens FERM domain containing 7 (FRMD7), mRNA.	298					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ATAGCGGAAACTGGAACCCTT	0.448													A	131216403	C	A	131216403	3	1	254	1	0	0	0	0	1	0	0	0	6107	565	20	4	1267	4	FRMD7	23	131216403	Missense_Mutation	SNP	C	TCGA-74-6577-01A-11D-1845-08	8018619	131216403	24054157	50	17832											
KIAA1751	85452	broad.mit.edu	37	chr1	1900265	1900265	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgagcttctgctcctcctCaaaggccctgcgtggagtcg	5	11	11	14	2	3	1	1	1	2	0	6	2	5	2	3	2	3	2	3	2	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:1900265C>G	uc001aim.1	-	10	1210	c.1054G>C	c.(1054-1056)Gag>Cag	p.E352Q	KIAA1751_uc009vkz.1_Missense_Mutation_p.E352Q	NM_001080484	NP_001073953	Q9C0B2	K1751_HUMAN	Homo sapiens KIAA1751 (KIAA1751), mRNA.	352										breast(1)|endometrium(5)|kidney(4)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	32	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;8.79e-39)|OV - Ovarian serous cystadenocarcinoma(86;9.61e-25)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;4.84e-05)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		TGCTCCTCCTCAAAGGCCCTG	0.597													G	1900265	C	G	1900265	3	3	255	1	0	0	0	0	1	0	0	0	8314	835	29	4	1266	4	KIAA1751	1	1900265	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		1900265	247350356	1	17833											
MMEL1	79258	broad.mit.edu	37	chr1	2527458	2527458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacataccttctcctgcGccttcttcttggactcctcg	5	13	6	17	2	3	0	0	0	3	0	6	1	4	1	5	1	3	0	5	1	1	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:2527458G>A	uc001ajy.2	-	14	1704	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	497					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTTCTCCTGCGCCTTCTTCTT	0.632													A	2527458	G	A	2527458	3	1	255	1	0	0	0	0	1	0	0	0	9721	1087	38	1	889	1	MMEL1	1	2527458	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	627193	2527458	246723163	2	17834											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809060	18809060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcatgccccccgaggccGtgtcccggggctgtgccatc	3	7	13	18	4	0	0	0	0	0	0	3	1	1	0	6	3	2	2	6	3	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:18809060G>A	uc001bax.3	+	0	1637	c.1585G>A	c.(1585-1587)Gtg>Atg	p.V529M	KLHDC7A_uc009vpg.3_Missense_Mutation_p.V311M	NM_152375	NP_689588	Q5VTJ3	KLD7A_HUMAN	Homo sapiens kelch domain containing 7A (KLHDC7A), mRNA.	529						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCGAGGCCGTGTCCCGGGG	0.662													A	18809060	G	A	18809060	3	1	255	1	0	0	0	0	1	0	0	0	8418	1145	40	1	1587	1	KLHDC7A	1	18809060	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	16281602	18809060	230441561	3	17835											
TXLNA	200081	broad.mit.edu	37	chr1	32650218	32650218	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagaagtatgctgaactgGtcagttcccccctccgcggg	8	8	12	13	2	1	2	1	1	0	1	3	2	3	2	4	2	2	4	4	2	4	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:32650218G>A	uc001bui.3	+	4	662	c.597_splice	c.e4+1	p.L199_splice	TXLNA_uc001buj.3_Splice_Site_p.L199_splice	NM_175852	NP_787048	P40222	TXLNA_HUMAN	Homo sapiens taxilin alpha (TXLNA), mRNA.	199					cell proliferation|exocytosis	cytoplasm|extracellular region	cytokine activity|high molecular weight B cell growth factor receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				TGCTGAACTGGTCAGTTCCCC	0.537													A	32650218	G	A	32650218	5	1	255	1	0	0	0	0	0	0	1	0	16889	1275	44	2	608	2	TXLNA	1	32650218	Splice_Site	SNP	G	TCGA-74-6578-01A-11D-1845-08	13841158	32650218	216600403	4	17836											
EPHA10	284656	broad.mit.edu	37	chr1	38227170	38227170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgccgcagtgcatgcGtggggggctgccaggctccc	3	6	18	14	4	0	0	0	0	0	0	2	0	1	0	3	5	3	4	3	5	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:38227170G>A	uc009vvi.3	-	2	843	c.757C>T	c.(757-759)Cgc>Tgc	p.R253C	EPHA10_uc001cbw.4_Missense_Mutation_p.R253C	NM_001099439	NP_001092909	Q5JZY3	EPHAA_HUMAN	Homo sapiens EPH receptor A10 (EPHA10), transcript variant 3, mRNA.	253						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGTGCATGCGTGGGGGGCTG	0.692													A	38227170	G	A	38227170	3	1	255	1	0	0	0	0	1	0	0	0	5207	1145	40	1	2367	1	EPHA10	1	38227170	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	5576952	38227170	211023451	5	17837											
MACF1	23499	broad.mit.edu	37	chr1	39913453	39913453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttccttagccaaaagcaGgatgttgttctgatcaagaa	14	11	9	7	0	2	2	1	1	1	1	3	3	3	3	2	1	2	4	2	1	6	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:39913453G>A	uc021olw.1	+	46	15180	c.15180G>A	c.(15178-15180)caG>caA	p.Q5060Q	MACF1_uc021ols.1_Silent_p.Q4555Q|MACF1_uc021olt.1_Silent_p.Q4558Q	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	6626					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCAAAAGCAGGATGTTGTTC	0.438													A	39913453	G	A	39913453	2	1	255	1	0	0	0	0	0	0	0	1	9215	991	35	2		2	MACF1	1	39913453	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	1686283	39913453	209337168	6	17838											
SPAG17	200162	broad.mit.edu	37	chr1	118548128	118548128	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctcgcagctgctcacgcTtttgaaaaggatagtatata	12	11	9	9	2	1	1	1	1	0	0	2	2	1	2	0	1	3	6	0	1	6	6			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:118548128T>C	uc001ehk.2	-	31	4753	c.4685A>G	c.(4684-4686)aAg>aGg	p.K1562R	SPAG17_uc021osr.1_Missense_Mutation_p.K72R	NM_206996	NP_996879	Q6Q759	SPG17_HUMAN	Homo sapiens sperm associated antigen 17 (SPAG17), mRNA.	1562						cilium|flagellar axoneme|microtubule		p.K1562R(2)		NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGCTCACGCTTTTGAAAAGG	0.448													C	118548128	T	C	118548128	3	2	255	1	0	0	0	0	1	0	0	0	15075	1609	56	3	2054	3	SPAG17	1	118548128	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	78634675	118548128	130702493	7	17839											
HAO2	51179	broad.mit.edu	37	chr1	119925581	119925581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagagatgtgtctgaggtgGacaccagaaccacaatccaa	14	7	11	9	0	1	4	0	2	1	2	2	6	2	5	3	2	1	0	3	2	3	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:119925581G>T	uc001ehr.1	+	2	307	c.175G>T	c.(175-177)Gac>Tac	p.D59Y	HAO2_uc001ehq.1_Missense_Mutation_p.D59Y	NM_016527	NP_057611	Q9NYQ3	HAOX2_HUMAN	Homo sapiens hydroxyacid oxidase 2 (long chain) (HAO2), transcript variant 1, mRNA.	59	FMN hydroxy acid dehydrogenase.				fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.V58V(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		GTCTGAGGTGGACACCAGAAC	0.552													T	119925581	G	T	119925581	3	4	255	1	0	0	0	0	1	0	0	0	7007	1174	41	4	181	4	HAO2	1	119925581	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1377453	119925581	129325040	8	17840											
ZNF697	90874	broad.mit.edu	37	chr1	120165681	120165681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctcacccgagtgcgtgcGcttgtgcgtgaagaggtgcg	5	8	16	12	6	1	2	1	1	0	1	1	3	1	2	2	1	4	2	2	1	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120165681G>A	uc001ehy.1	-	2	1399	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_001080470	NP_001073939	Q5TEC3	ZN697_HUMAN	Homo sapiens zinc finger protein 697 (ZNF697), mRNA.	429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		GAGTGCGTGCGCTTGTGCGTG	0.667													A	120165681	G	A	120165681	3	1	255	1	0	0	0	0	1	0	0	0	18201	1087	38	1	356	1	ZNF697	1	120165681	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	240100	120165681	129084940	9	17841											
NOTCH2	4853	broad.mit.edu	37	chr1	120512133	120512133	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccgtccttctgctacctaCctgccttcccctctgggcac	4	12	6	19	1	2	0	0	0	2	0	5	0	5	0	7	1	4	2	7	1	2	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:120512133C>T	uc001eik.3	-	6	1405	c.1108_splice	c.e6+1	p.G370_splice	NOTCH2_uc001eil.3_Splice_Site_p.G370_splice|NOTCH2_uc021osy.1_Splice_Site_p.G331_splice|NOTCH2_uc001eim.4_Splice_Site_p.G287_splice	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	370	EGF-like 9; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTGCTACCTACCTGCCTTCCC	0.537			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120512133	C	T	120512133	5	4	255	1	0	0	0	0	0	0	1	0	10624	521	18	2	6422	2	NOTCH2	1	120512133	Splice_Site	SNP	C	TCGA-74-6578-01A-11D-1845-08	346452	120512133	128738488	10	17842											
BCL9	607	broad.mit.edu	37	chr1	147091673	147091673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgcaggcatgataaactCtgaaatggaagggccgaatg	14	9	12	6	1	1	2	0	2	1	0	1	4	1	3	1	3	2	2	1	3	5	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:147091673C>G	uc001epq.3	+	7	2452	c.1712C>G	c.(1711-1713)tCt>tGt	p.S571C	BCL9_uc010ozr.1_Missense_Mutation_p.S497C	NM_004326	NP_004317	O00512	BCL9_HUMAN	Homo sapiens B-cell CLL/lymphoma 9 (BCL9), mRNA.	571	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.S571F(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					ATGATAAACTCTGAAATGGAA	0.547			T	"IGH@, IGL@"	B-ALL								G	147091673	C	G	147091673	3	3	255	1	0	0	0	0	1	0	0	0	1386	913	32	4	1730	4	BCL9	1	147091673	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	26579540	147091673	102158948	11	17843											
HRNR	388697	broad.mit.edu	37	chr1	152193180	152193180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accggacccatgtcggacgtGgctaggagactggcgagatc	9	6	15	11	4	0	2	0	0	0	2	2	6	0	4	2	5	0	1	2	5	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:152193180G>A	uc001ezt.1	-	2	1001	c.925C>T	c.(925-927)Cac>Tac	p.H309Y		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	309					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCGGACGTGGCTAGGAGAC	0.602													A	152193180	G	A	152193180	3	1	255	1	0	0	0	0	1	0	0	0	7414	1348	47	2	7631	2	HRNR	1	152193180	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	5101507	152193180	97057441	12	17844											
ZBTB7B	51043	broad.mit.edu	37	chr1	154987218	154987218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgcctcaatgagcagCgccagctgggccacctatgt	8	8	12	13	1	1	2	1	2	0	0	1	2	1	2	4	1	5	3	4	1	2	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:154987218C>T	uc001fgj.4	+	4	469	c.184C>T	c.(184-186)Cgc>Tgc	p.R62C	ZBTB7B_uc009wpa.3_Missense_Mutation_p.R28C|ZBTB7B_uc001fgk.4_Missense_Mutation_p.R28C|ZBTB7B_uc010peq.2_Missense_Mutation_p.R62C|ZBTB7B_uc001fgl.4_Missense_Mutation_p.R28C	NM_015872	NP_056956	O15156	ZBT7B_HUMAN	Homo sapiens zinc finger and BTB domain containing 7B (ZBTB7B), transcript variant 1, mRNA.	28	BTB.				cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAATGAGCAGCGCCAGCTGGG	0.592													T	154987218	C	T	154987218	3	4	255	1	0	0	0	0	1	0	0	0	17655	768	27	1	84	1	ZBTB7B	1	154987218	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	2794038	154987218	94263403	13	17845											
FAM78B	149297	broad.mit.edu	37	chr1	166039701	166039701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcatcctccacttgatgGtctgcagaatgatcttctcc	7	13	6	15	0	4	3	1	2	3	1	7	3	6	3	4	1	1	1	4	1	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:166039701G>A	uc021pef.1	-	1	1036	c.563C>T	c.(562-564)aCc>aTc	p.T188I	FAM78B_uc010plc.2_Non-coding_Transcript|FAM78B_uc021pee.1_Intron|FAM78B_uc001gdq.3_5'Flank	NM_001017961	NP_001017961	Q5VT40	FA78B_HUMAN	Homo sapiens family with sequence similarity 78, member B (FAM78B), mRNA.	188										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CCACTTGATGGTCTGCAGAAT	0.572													A	166039701	G	A	166039701	3	1	255	1	0	0	0	0	1	0	0	0	5677	1261	44	2	226	2	FAM78B	1	166039701	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	11052483	166039701	83210920	14	17846											
URB2	9816	broad.mit.edu	37	chr1	229772130	229772130	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcccttctcccggacacCccaggcccagagccagagct	7	5	10	19	1	1	2	0	0	1	2	2	3	1	3	6	3	2	1	6	3	0	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr1:229772130C>A	uc001hts.1	+	3	1906	c.1770C>A	c.(1768-1770)acC>acA	p.T590T	URB2_uc009xfd.1_Silent_p.T590T	NM_014777	NP_055592	Q14146	URB2_HUMAN	Homo sapiens URB2 ribosome biogenesis 2 homolog (S. cerevisiae) (URB2), mRNA.	590						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TCCCGGACACCCCAGGCCCAG	0.597													A	229772130	C	A	229772130	2	1	255	1	0	0	0	0	0	0	0	1	17127	610	22	4		4	URB2	1	229772130	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	63732429	229772130	19478491	15	17847											
PNPT1	87178	broad.mit.edu	37	chr2	55874482	55874482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccgagaatatacttgcCaaaatatctgtcagcaaacg	17	8	7	9	2	2	1	1	0	1	1	2	3	2	1	2	0	5	1	2	0	8	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:55874482C>G	uc002rzf.2	-	19	1655	c.1602_splice	c.e19+1	p.L534_splice		NM_033109	NP_149100	Q8TCS8	PNPT1_HUMAN	Homo sapiens polyribonucleotide nucleotidyltransferase 1 (PNPT1), mRNA.	534					mRNA catabolic process|RNA processing	plasma membrane	3'-5'-exoribonuclease activity|polyribonucleotide nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			ATATACTTGCCAAAATATCTG	0.308													G	55874482	C	G	55874482	3	3	255	1	0	0	0	0	1	0	0	0	12250	608	21	4	789	4	PNPT1	2	55874482	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		55874482	187324891	16	17848											
SLC5A7	60482	broad.mit.edu	37	chr2	108625088	108625088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagattcttccatcttgtcaGcaagttccatgtttgcacgg	8	14	8	11	1	3	1	1	0	2	1	5	1	5	1	2	1	2	4	2	1	1	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:108625088G>A	uc002tdv.3	+	7	1339	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	SLC5A7_uc010ywm.2_Missense_Mutation_p.A108T|SLC5A7_uc010fjj.3_Missense_Mutation_p.A355T|SLC5A7_uc010ywn.2_Missense_Mutation_p.A242T	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	355					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CATCTTGTCAGCAAGTTCCAT	0.413													A	108625088	G	A	108625088	3	1	255	1	0	0	0	0	1	0	0	0	14764	971	34	2	1089	2	SLC5A7	2	108625088	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	52750606	108625088	134574285	17	17849											
CKAP2L	150468	broad.mit.edu	37	chr2	113504041	113504041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatatagcccaataacatCaaaggtgcctttacttgcca	13	12	5	11	0	2	0	2	0	0	0	2	0	2	0	3	1	5	0	3	1	6	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:113504041C>A	uc002tie.2	-	5	1793	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	CKAP2L_uc002tif.2_Missense_Mutation_p.D161Y|CKAP2L_uc010yxp.1_Missense_Mutation_p.D407Y	NM_152515	NP_689728	Q8IYA6	CKP2L_HUMAN	Homo sapiens cytoskeleton associated protein 2-like (CKAP2L), mRNA.	572						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						CCAATAACATCAAAGGTGCCT	0.373													A	113504041	C	A	113504041	3	1	255	1	0	0	0	0	1	0	0	0	3474	826	29	4	539	4	CKAP2L	2	113504041	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	4878953	113504041	129695332	18	17850											
ABCB11	8647	broad.mit.edu	37	chr2	169791877	169791877	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagtgcttcaatgaacCgcctctcctttccaattcca	9	13	4	15	1	3	1	2	1	2	0	7	1	5	1	5	0	2	1	5	0	4	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:169791877C>T	uc002ueo.1	-	22	2999	c.2873G>A	c.(2872-2874)cGg>cAg	p.R958Q	ABCB11_uc010zda.1_Missense_Mutation_p.R400Q|ABCB11_uc010zdb.1_Missense_Mutation_p.R434Q	NM_003742	NP_003733	O95342	ABCBB_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 11 (ABCB11), mRNA.	958	ABC transmembrane type-1 2.		R -> Q.		bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TTCAATGAACCGCCTCTCCTT	0.448													T	169791877	C	T	169791877	3	4	255	1	0	0	0	0	1	0	0	0	42	652	23	1	1116	1	ABCB11	2	169791877	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	56287836	169791877	73407496	19	17851											
FZD5	7855	broad.mit.edu	37	chr2	208632195	208632195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggatgcggaagagcgacacGaagcccgccagcaggaagag	13	1	16	11	5	0	2	0	0	0	2	0	7	0	5	2	3	4	1	2	3	3	0	rs35642228		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:208632195G>A	uc021vvr.1	-	0	1269	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	FZD5_uc002vcj.3_Silent_p.F423F	NM_003468	NP_003459	Q13467	FZD5_HUMAN	Homo sapiens frizzled family receptor 5 (FZD5), mRNA.	423					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		AGAGCGACACGAAGCCCGCCA	0.637													A	208632195	G	A	208632195	2	1	255	1	0	0	0	0	0	0	0	1	6185	1049	37	1		1	FZD5	2	208632195	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	38840318	208632195	34567178	20	17852											
RBM44	375316	broad.mit.edu	37	chr2	238727201	238727201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaggaaaatctctctccGttgacagtttaaaacctaat	14	12	6	9	1	3	1	1	1	2	0	5	3	3	2	2	1	1	2	2	1	5	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr2:238727201G>A	uc002vxi.4	+	2	1774	c.1642G>A	c.(1642-1644)Gtt>Att	p.V548I		NM_001080504	NP_001073973	Q6ZP01	RBM44_HUMAN	Homo sapiens RNA binding motif protein 44 (RBM44), mRNA.	547							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATCTCTCTCCGTTGACAGTTT	0.308													A	238727201	G	A	238727201	3	1	255	1	0	0	0	0	1	0	0	0	13226	1145	40	1	1648	1	RBM44	2	238727201	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	30095006	238727201	4472172	21	17853											
DLEC1	9940	broad.mit.edu	37	chr3	38153750	38153750	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagctgctttcttcccTcacttttcccagggcatgct	7	13	8	13	0	2	0	1	0	1	0	4	1	4	1	2	2	3	4	2	2	1	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38153750T>C	uc003chp.1	+	24	3585	c.3564T>C	c.(3562-3564)ccT>ccC	p.P1188P	DLEC1_uc003cho.1_Silent_p.P1188P|DLEC1_uc010hgv.1_Silent_p.P1191P|DLEC1_uc003chr.1_Intron|DLEC1_uc010hgx.1_Non-coding_Transcript	NM_007337	NP_031363	Q9Y238	DLEC1_HUMAN	Homo sapiens deleted in lung and esophageal cancer 1 (DLEC1), transcript variant DLEC1-S3, mRNA.	1188					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		CTTTCTTCCCTCACTTTTCCC	0.572													C	38153750	T	C	38153750	2	2	255	1	0	0	0	0	0	0	0	1	4591	1538	54	3		3	DLEC1	3	38153750	Silent	SNP	T	TCGA-74-6578-01A-11D-1845-08		38153750	159868680	22	17854											
SCN5A	6331	broad.mit.edu	37	chr3	38591818	38591818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaggccgaggctcacacGatggactcacggtccctgtc	8	6	12	15	3	2	0	2	0	0	0	4	3	3	1	3	4	1	1	3	4	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:38591818G>A	uc021wvo.1	-	26	6097	c.6045C>T	c.(6043-6045)atC>atT	p.I2015I	SCN5A_uc021wvk.1_Silent_p.I1982I|SCN5A_uc021wvl.1_Silent_p.I1961I|SCN5A_uc021wvm.1_Silent_p.I1997I|SCN5A_uc021wvn.1_Silent_p.I2014I|SCN5A_uc021wvp.1_Silent_p.I2015I|SCN5A_uc021wvq.1_3'UTR|SCN5A_uc021wvr.1_3'UTR|SCN5A_uc021wvs.1_3'UTR|SCN5A_uc021wvt.1_3'UTR|SCN5A_uc021wvu.1_3'UTR|SCN5A_uc021wvv.1_3'UTR|SCN5A_uc021wvj.1_Silent_p.I1827I|SCN5A_uc021wvi.1_Silent_p.I1881I	NM_198056	NP_932173	Q14524	SCN5A_HUMAN	Homo sapiens sodium channel, voltage-gated, type V, alpha subunit (SCN5A), transcript variant 1, mRNA.	2015					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	AGGCTCACACGATGGACTCAC	0.592													A	38591818	G	A	38591818	2	1	255	1	0	0	0	0	0	0	0	1	14015	1048	37	1		1	SCN5A	3	38591818	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	438068	38591818	159430612	23	17855											
PBRM1	55193	broad.mit.edu	37	chr3	52598198	52598198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtcattttctggtattTcagttggcctgcaggagagg	8	14	13	6	0	3	1	2	0	1	1	3	3	3	1	1	4	1	3	1	4	2	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:52598198T>C	uc003des.2	-	22	3755	c.3743A>G	c.(3742-3744)gAa>gGa	p.E1248G	PBRM1_uc003dex.2_Non-coding_Transcript|PBRM1_uc003deq.2_Missense_Mutation_p.E1248G|PBRM1_uc003der.2_Missense_Mutation_p.E1216G|PBRM1_uc003det.2_Missense_Mutation_p.E1263G|PBRM1_uc003deu.2_Missense_Mutation_p.E1263G|PBRM1_uc003dev.2_Non-coding_Transcript|PBRM1_uc003dew.2_Missense_Mutation_p.E1248G|PBRM1_uc010hmk.1_Missense_Mutation_p.E1223G|PBRM1_uc003dey.2_Missense_Mutation_p.E1223G|PBRM1_uc003dez.1_Missense_Mutation_p.E1247G	NM_181042	NP_060635	Q86U86	PB1_HUMAN	Homo sapiens polybromo 1 (PBRM1), transcript variant 4, mRNA.	1248	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTGGTATTTCAGTTGGCCT	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								C	52598198	T	C	52598198	3	2	255	1	0	0	0	0	1	0	0	0	11567	1783	62	3	1189	3	PBRM1	3	52598198	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	14006380	52598198	145424232	24	17856											
UBA3	9039	broad.mit.edu	37	chr3	69120763	69120763	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctgtctaaaaccagaCaaggcctgtgggaataaaaa	17	8	9	7	0	2	2	0	1	2	1	2	3	2	3	2	2	1	0	2	2	8	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:69120763C>T	uc003dno.3	-	4	290	c.270G>A	c.(268-270)ttG>ttA	p.L90L	UBA3_uc003dnq.3_Silent_p.L76L|UBA3_uc011bfy.2_5'UTR|UBA3_uc011bfz.2_Intron	NM_003968	NP_003959	Q8TBC4	UBA3_HUMAN	Homo sapiens ubiquitin-like modifier activating enzyme 3 (UBA3), transcript variant 1, mRNA.	90					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		TAAAACCAGACAAGGCCTGTG	0.313													T	69120763	C	T	69120763	2	4	255	1	0	0	0	0	0	0	0	1	16931	477	17	2		2	UBA3	3	69120763	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	16522565	69120763	128901667	25	17857											
SENP7	57337	broad.mit.edu	37	chr3	101080632	101080632	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaaatccagttgtagaTccatctcattactaggcata	15	13	5	8	0	1	1	1	0	1	1	4	1	3	1	2	1	1	3	2	1	7	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:101080632T>G	uc003dut.3	-	10	1661	c.1550A>C	c.(1549-1551)gAt>gCt	p.D517A	SENP7_uc003duu.3_Missense_Mutation_p.D452A|SENP7_uc003duv.3_Missense_Mutation_p.D484A|SENP7_uc003duw.3_Missense_Mutation_p.D451A|SENP7_uc003dux.3_Missense_Mutation_p.D353A	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	517					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CAGTTGTAGATCCATCTCATT	0.289													G	101080632	T	G	101080632	3	3	255	1	0	0	0	0	1	0	0	0	14144	1435	50	5	1658	5	SENP7	3	101080632	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	31959869	101080632	96941798	26	17858											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	12	13	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs121913274		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:178936092A>C	uc003fjk.3	+	9	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(1071)|p.E545A(192)|p.E545G(157)|p.E545D(23)|p.E545Q(21)|p.E545?(19)|p.E545V(10)|p.(542_545)E>K(4)|p.T544N(3)|p.T544I(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178936092	A	C	178936092	3	2	255	1	0	0	0	0	1	0	0	0	11990	304	11	5	1668	5	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	77855460	178936092	19086338	27	17859											
TTC14	151613	broad.mit.edu	37	chr3	180321035	180321035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaattagttctattcGggaattcggttttttcatgg	9	17	11	4	2	2	1	1	0	1	1	4	3	2	3	0	4	0	2	0	4	5	8			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:180321035G>A	uc003fkk.3	+	2	542	c.410G>A	c.(409-411)cGg>cAg	p.R137Q	TTC14_uc003fkl.3_Missense_Mutation_p.R137Q|TTC14_uc003fkm.2_Missense_Mutation_p.R137Q	NM_133462	NP_597719	Q96N46	TTC14_HUMAN	Homo sapiens tetratricopeptide repeat domain 14 (TTC14), transcript variant 1, mRNA.	137	S1 motif.						RNA binding	p.R137Q(2)		endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTCTATTCGGGAATTCGGT	0.373													A	180321035	G	A	180321035	3	1	255	1	0	0	0	0	1	0	0	0	16783	1116	39	1	420	1	TTC14	3	180321035	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1384943	180321035	17701395	28	17860											
ACAP2	23527	broad.mit.edu	37	chr3	195015481	195015481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actattggctgacaccgtggAgggtaaagattctcttccat	10	12	10	9	1	1	2	0	1	1	1	3	3	2	3	2	3	0	2	2	3	3	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr3:195015481A>G	uc003fun.4	-	17	1973	c.1732T>C	c.(1732-1734)Tcc>Ccc	p.S578P		NM_012287	NP_036419	Q15057	ACAP2_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 2 (ACAP2), mRNA.	578					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GACACCGTGGAGGGTAAAGAT	0.368													G	195015481	A	G	195015481	3	3	255	1	0	0	0	0	1	0	0	0	119	304	11	3	628	3	ACAP2	3	195015481	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	14694446	195015481	3006949	29	17861											
TLR6	10333	broad.mit.edu	37	chr4	38830189	38830189	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgtcaatgctttcaatgtCgttttagaataagtaaaatc	14	16	6	5	1	2	1	2	0	0	1	4	1	2	1	0	0	1	3	0	0	7	6			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:38830189C>T	uc010ifg.2	-	1	1027	c.906G>A	c.(904-906)acG>acA	p.T302T	TLR6_uc003gtm.3_Silent_p.T302T	NM_006068	NP_006059	Q9Y2C9	TLR6_HUMAN	Homo sapiens toll-like receptor 6 (TLR6), mRNA.	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTTCAATGTCGTTTTAGAAT	0.318													T	38830189	C	T	38830189	2	4	255	1	0	0	0	0	0	0	0	1	16055	871	31	1		1	TLR6	4	38830189	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08		38830189	152324087	30	17862											
CENPC1	1060	broad.mit.edu	37	chr4	68396616	68396616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaactggaactgactttGgatgtgatttctggcactga	12	12	11	6	0	1	4	0	3	1	1	1	6	1	6	0	3	2	1	0	3	3	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:68396616G>A	uc003hdd.1	-	4	431	c.248C>T	c.(247-249)cCa>cTa	p.P83L	CENPC1_uc010ihj.1_Non-coding_Transcript|CENPC1_uc010ihk.1_Non-coding_Transcript|CENPC1_uc010ihm.1_Missense_Mutation_p.P83L	NM_001812	NP_001803	Q03188	CENPC_HUMAN	Homo sapiens centromere protein C 1 (CENPC1), mRNA.	83					mitotic prometaphase	condensed chromosome kinetochore|condensed nuclear chromosome, centromeric region|cytosol	DNA binding			NS(1)|breast(1)|kidney(5)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	23						AACTGACTTTGGATGTGATTT	0.363													A	68396616	G	A	68396616	3	1	255	1	0	0	0	0	1	0	0	0	3259	1348	47	2	2643	2	CENPC1	4	68396616	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	29566427	68396616	122757660	31	17863											
UGT2B7	7364	broad.mit.edu	37	chr4	69978432	69978432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaagtttgctagaaaagCaaagaagggaaaaaatgatt	19	8	11	3	0	0	3	0	1	0	2	0	5	0	5	0	2	2	3	0	2	9	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:69978432C>G	uc003heg.4	+	5	1614	c.1568C>G	c.(1567-1569)gCa>gGa	p.A523G	UGT2B7_uc010ihq.3_3'UTR	NM_001074	NP_001065	P16662	UD2B7_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B7 (UGT2B7), mRNA.	523					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GCTAGAAAAGCAAAGAAGGGA	0.378													G	69978432	C	G	69978432	3	3	255	1	0	0	0	0	1	0	0	0	17064	710	25	4	1590	4	UGT2B7	4	69978432	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	1581816	69978432	121175844	32	17864											
SHROOM3	57619	broad.mit.edu	37	chr4	77660381	77660381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaatggtctaatattcctcGgggcaagggagtgccacccc	10	9	11	11	1	1	0	0	0	1	0	3	1	2	1	4	4	1	1	4	4	5	4	rs146652221	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:77660381G>A	uc011cbx.2	+	4	2008	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	SHROOM3_uc011cbz.1_Missense_Mutation_p.R176Q|SHROOM3_uc003hkf.1_Missense_Mutation_p.R227Q|SHROOM3_uc003hkg.3_Missense_Mutation_p.R130Q	NM_020859	NP_065910	Q8TF72	SHRM3_HUMAN	Homo sapiens shroom family member 3 (SHROOM3), mRNA.	352					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			AATATTCCTCGGGGCAAGGGA	0.582													A	77660381	G	A	77660381	3	1	255	1	0	0	0	0	1	0	0	0	14389	1116	39	1	1073	1	SHROOM3	4	77660381	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	7681949	77660381	113493895	33	17865											
FRAS1	80144	broad.mit.edu	37	chr4	79351554	79351554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagcatacagctgagttccGaaggccgatggccacaggta	12	7	12	10	2	0	1	0	1	0	0	1	3	1	1	3	3	3	4	3	3	4	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:79351554G>A	uc003hlb.2	+	36	5392	c.4952G>A	c.(4951-4953)cGa>cAa	p.R1651Q	FRAS1_uc003hkw.3_Missense_Mutation_p.R1651Q|FRAS1_uc010ijj.2_Missense_Mutation_p.R71Q	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1650					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGAGTTCCGAAGGCCGATG	0.493													A	79351554	G	A	79351554	3	1	255	1	0	0	0	0	1	0	0	0	6093	1058	37	1	5098	1	FRAS1	4	79351554	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	1691173	79351554	111802722	34	17866											
ANK2	287	broad.mit.edu	37	chr4	114262932	114262932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttatctgcgtaccttatatgGccaaatttgtagtgtttgcc	8	17	8	8	1	1	0	0	0	1	0	1	0	1	0	3	1	3	3	3	1	6	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr4:114262932G>A	uc003ibe.4	+	32	4082	c.3982G>A	c.(3982-3984)Gcc>Acc	p.A1328T	ANK2_uc003ibd.4_Missense_Mutation_p.A1319T|ANK2_uc003ibf.4_Missense_Mutation_p.A1328T|ANK2_uc011cgc.2_Missense_Mutation_p.A504T|ANK2_uc003ibg.4_Missense_Mutation_p.A323T|ANK2_uc003ibh.4_Missense_Mutation_p.A2T|ANK2_uc011cgb.1_Missense_Mutation_p.A1343T	NM_001148	NP_001139	Q01484	ANK2_HUMAN	Homo sapiens ankyrin 2, neuronal (ANK2), transcript variant 1, mRNA.	1295					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACCTTATATGGCCAAATTTGT	0.393													A	114262932	G	A	114262932	3	1	255	1	0	0	0	0	1	0	0	0	621	1203	42	2	4177	2	ANK2	4	114262932	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	34911378	114262932	76891344	35	17867											
RGNEF	64283	broad.mit.edu	37	chr5	73128174	73128174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactctagatcgctccttcGatatcctaaaaaaatccaag	14	11	5	11	2	1	1	0	0	1	1	6	2	4	1	3	0	1	2	3	0	8	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:73128174G>A	uc010izf.3	+	9	1212	c.1036G>A	c.(1036-1038)Gat>Aat	p.D346N	RGNEF_uc011csq.2_Missense_Mutation_p.D346N|RGNEF_uc003kcy.1_Missense_Mutation_p.D346N|RGNEF_uc021yam.1_Missense_Mutation_p.D346N|RGNEF_uc011csr.2_Missense_Mutation_p.D33N	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	346					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TCGCTCCTTCGATATCCTAAA	0.423													A	73128174	G	A	73128174	3	1	255	1	0	0	0	0	1	0	0	0	13371	1058	37	1	1070	1	RGNEF	5	73128174	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		73128174	107787086	36	17868											
SLC36A2	153201	broad.mit.edu	37	chr5	150726999	150726999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggctccctggggacccTcagtactttttgtcacagac	8	10	9	14	1	2	1	2	0	0	1	3	2	3	2	2	3	2	2	2	3	2	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr5:150726999T>A	uc003lty.3	-	0	153	c.23A>T	c.(22-24)gAg>gTg	p.E8V	SLC36A2_uc003ltz.3_Non-coding_Transcript|SLC36A2_uc003lua.3_5'UTR|SLC36A2_uc010jhv.2_Missense_Mutation_p.E8V|SLC36A2_uc011dct.1_Missense_Mutation_p.E8V	NM_181776	NP_861441	Q495M3	S36A2_HUMAN	Homo sapiens solute carrier family 36 (proton/amino acid symporter), member 2 (SLC36A2), mRNA.	8					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGGACCCTCAGTACTTTT	0.493													A	150726999	T	A	150726999	3	1	255	1	0	0	0	0	1	0	0	0	14688	1551	54	5	1468	5	SLC36A2	5	150726999	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	77598825	150726999	30188261	37	17869											
DSP	1832	broad.mit.edu	37	chr6	7575560	7575560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttgaacttgaagaagtcGttgttggccactatgaagac	12	11	11	7	1	0	5	0	3	0	2	1	6	0	5	1	1	1	2	1	1	5	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:7575560G>A	uc003mxp.1	+	17	2748	c.2469G>A	c.(2467-2469)tcG>tcA	p.S823S	DSP_uc003mxq.1_Silent_p.S823S|DSP_uc021yle.1_Silent_p.S823S	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	823	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAAGAAGTCGTTGTTGGCCA	0.393													A	7575560	G	A	7575560	2	1	255	1	0	0	0	0	0	0	0	1	4820	1132	40	1		1	DSP	6	7575560	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		7575560	163539507	38	17870											
RHAG	6005	broad.mit.edu	37	chr6	49582542	49582542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagttaaagctgggcCaaaacatccacagaaagaga	16	5	11	9	1	0	2	0	0	0	2	1	4	1	2	3	2	2	2	3	2	5	1	rs77467572		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:49582542C>A	uc003ozk.4	-	4	727	c.665G>T	c.(664-666)tGg>tTg	p.W222L	RHAG_uc010jzl.3_Missense_Mutation_p.W222L|RHAG_uc010jzm.3_Missense_Mutation_p.W222L	NM_000324	NP_000315	Q02094	RHAG_HUMAN	Homo sapiens Rh-associated glycoprotein (RHAG), mRNA.	222					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGCTGGGCCAAAACATCCA	0.463													A	49582542	C	A	49582542	3	1	255	1	0	0	0	0	1	0	0	0	13404	595	21	4	588	4	RHAG	6	49582542	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	42006982	49582542	121532525	39	17871											
COL9A1	1297	broad.mit.edu	37	chr6	70961988	70961988	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgcctgaatttcccatctGaccaggcttccctggagcac	7	12	8	14	0	1	2	0	2	1	0	3	3	3	3	4	2	2	2	4	2	1	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr6:70961988G>A	uc003pfg.4	-	26	1954	c.1795C>T	c.(1795-1797)Cag>Tag	p.Q599*	COL9A1_uc003pfe.4_Nonsense_Mutation_p.Q172*|COL9A1_uc003pff.4_Nonsense_Mutation_p.Q356*	NM_001851	NP_001842	P20849	CO9A1_HUMAN	Homo sapiens collagen, type IX, alpha 1 (COL9A1), transcript variant 1, mRNA.	599	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.G598C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TTTCCCATCTGACCAGGCTTC	0.423													A	70961988	G	A	70961988	4	1	255	1	0	0	0	0	0	1	0	0	3738	1299	45	2	1018	2	COL9A1	6	70961988	Nonsense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	21379446	70961988	100153079	40	17872											
COL1A2	1278	broad.mit.edu	37	chr7	94039079	94039079	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcctccctggaccccgCggtattcctggccctgttgg	2	9	12	18	3	0	0	0	0	0	0	2	1	2	1	7	5	0	2	7	5	1	3	rs141762645	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:94039079C>T	uc003ung.1	+	18	1452	c.981C>T	c.(979-981)cgC>cgT	p.R327R	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	327					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGACCCCGCGGTATTCCTG	0.592										HNSCC(75;0.22)			T	94039079	C	T	94039079	2	4	255	1	0	0	0	0	0	0	0	1	3709	755	27	1		1	COL1A2	7	94039079	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08		94039079	65099584	41	17873											
CNTNAP2	26047	broad.mit.edu	37	chr7	146536869	146536869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttgactttggcaatcGgaagcagatcagtgccattg	10	11	12	8	1	2	2	2	1	0	1	3	3	2	3	1	3	2	3	1	3	2	3	rs138924087		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr7:146536869G>A	uc003weu.2	+	2	791	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_014141	NP_054860	Q9UHC6	CNTP2_HUMAN	Homo sapiens contactin associated protein-like 2 (CNTNAP2), mRNA.	92	F5/8 type C.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	p.R92Q(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TTTGGCAATCGGAAGCAGATC	0.502										HNSCC(39;0.1)			A	146536869	G	A	146536869	3	1	255	1	0	0	0	0	1	0	0	0	3678	1116	39	1	285	1	CNTNAP2	7	146536869	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	52497790	146536869	12601794	42	17874											
DOCK5	80005	broad.mit.edu	37	chr8	25220568	25220568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgttctccgcaggacttCctcatggaaacttttatcat	8	15	6	12	1	4	0	2	0	2	0	6	2	5	2	2	2	1	2	2	2	2	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:25220568C>A	uc003xeg.3	+	28	3092	c.2955C>A	c.(2953-2955)ttC>ttA	p.F985L	DOCK5_uc010luf.1_Non-coding_Transcript|DOCK5_uc003xeh.1_Missense_Mutation_p.F699L|DOCK5_uc003xei.3_Missense_Mutation_p.F555L|DOCK5_uc003xej.3_Non-coding_Transcript	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	985						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CGCAGGACTTCCTCATGGAAA	0.443													A	25220568	C	A	25220568	3	1	255	1	0	0	0	0	1	0	0	0	4729	854	30	4	3069	4	DOCK5	8	25220568	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		25220568	121143454	43	17875											
FNTA	2339	broad.mit.edu	37	chr8	42939877	42939877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggatcgtggtctttcCaaatatcctaatctgttaaa	11	15	7	8	1	2	0	0	0	2	0	5	1	4	1	2	2	1	2	2	2	5	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:42939877C>T	uc003xps.3	+	7	918	c.870C>T	c.(868-870)tcC>tcT	p.S290S	FNTA_uc003xpt.3_Silent_p.S199S|FNTA_uc003xpv.3_Non-coding_Transcript	NM_002027	NP_002018	P49354	FNTA_HUMAN	Homo sapiens farnesyltransferase, CAAX box, alpha (FNTA), transcript variant 1, mRNA.	290					cellular component disassembly involved in apoptosis|positive regulation of deacetylase activity|positive regulation of tubulin deacetylation|protein farnesylation|protein geranylgeranylation|transforming growth factor beta receptor signaling pathway	cytosol|microtubule associated complex	alpha-tubulin binding|CAAX-protein geranylgeranyltransferase activity|microtubule binding|protein farnesyltransferase activity			cervix(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	16	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			GTGGTCTTTCCAAATATCCTA	0.343													T	42939877	C	T	42939877	2	4	255	1	0	0	0	0	0	0	0	1	6026	581	21	2		2	FNTA	8	42939877	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	17719309	42939877	103424145	44	17876											
SPAG1	6674	broad.mit.edu	37	chr8	101203698	101203698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgagtaaagtactagatGttgagcctgataatgatttg	13	15	10	3	0	0	5	0	4	0	1	0	5	0	5	1	0	2	3	1	0	5	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:101203698G>A	uc003yjh.2	+	8	999	c.913G>A	c.(913-915)Gtt>Att	p.V305I	SPAG1_uc003yjg.1_Missense_Mutation_p.V305I|SPAG1_uc003yji.2_Missense_Mutation_p.V305I	NM_172218	NP_757367	Q07617	SPAG1_HUMAN	Homo sapiens sperm associated antigen 1 (SPAG1), transcript variant 2, mRNA.	305					single fertilization	cytoplasm	GTP binding|hydrolase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	all_cancers(14;2.35e-05)|all_epithelial(15;5.2e-08)|Lung NSC(17;0.000283)|all_lung(17;0.000823)	Breast(495;0.195)	Epithelial(11;1.12e-09)|all cancers(13;1.26e-07)|OV - Ovarian serous cystadenocarcinoma(57;4.37e-05)|STAD - Stomach adenocarcinoma(118;0.0525)	KIRC - Kidney renal clear cell carcinoma(542;0.00178)|READ - Rectum adenocarcinoma(644;0.236)		AGTACTAGATGTTGAGCCTGA	0.348													A	101203698	G	A	101203698	3	1	255	1	0	0	0	0	1	0	0	0	15071	1377	48	2	943	2	SPAG1	8	101203698	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	58263821	101203698	45160324	45	17877											
FER1L6	654463	broad.mit.edu	37	chr8	125131869	125131869	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccagacacctccttttcGtggttcatgagcccctttaa	7	12	7	15	2	1	2	1	1	0	1	3	2	2	2	5	1	1	1	5	1	1	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:125131869G>A	uc003yqw.3	+	40	5618	c.5412G>A	c.(5410-5412)tcG>tcA	p.S1804S	AK057332_uc003yqy.1_Intron	NM_001039112	NP_001034201	Q2WGJ9	FR1L6_HUMAN	Homo sapiens fer-1-like 6 (C. elegans) (FER1L6), mRNA.	1804						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCTCCTTTTCGTGGTTCATGA	0.458													A	125131869	G	A	125131869	2	1	255	1	0	0	0	0	0	0	0	1	5864	1132	40	1		1	FER1L6	8	125131869	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	23928171	125131869	21232153	46	17878											
PLEC	5339	broad.mit.edu	37	chr8	144992335	144992335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttccgcaggccacggAaggtcagcttgcgggcgtcc	5	8	14	14	4	2	0	1	0	1	0	4	1	4	1	3	4	3	3	3	4	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr8:144992335A>G	uc003zaf.1	-	31	12235	c.12065T>C	c.(12064-12066)tTc>tCc	p.F4022S	PLEC_uc003zab.1_Missense_Mutation_p.F3885S|PLEC_uc003zac.1_Missense_Mutation_p.F3889S|PLEC_uc003zad.2_Missense_Mutation_p.F3885S|PLEC_uc003zae.1_Missense_Mutation_p.F3853S|PLEC_uc003zag.1_Missense_Mutation_p.F3863S|PLEC_uc003zah.2_Missense_Mutation_p.F3871S|PLEC_uc003zaj.2_Missense_Mutation_p.F3912S	NM_201380	NP_958782	Q15149	PLEC_HUMAN	Homo sapiens plectin (PLEC), transcript variant 6, mRNA.	4022	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CAGGCCACGGAAGGTCAGCTT	0.692													G	144992335	A	G	144992335	3	3	255	1	0	0	0	0	1	0	0	0	12129	246	9	3	1993	3	PLEC	8	144992335	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	19860466	144992335	1371687	47	17879											
GLDC	2731	broad.mit.edu	37	chr9	6592871	6592871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccatcctcaaaaagccGaaaattgatctgccgctgag	12	9	9	11	2	2	2	1	2	1	0	3	3	3	2	4	0	3	1	4	0	4	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:6592871G>A	uc003zkc.3	-	9	1574	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W		NM_000170	NP_000161	P23378	GCSP_HUMAN	Homo sapiens glycine dehydrogenase (decarboxylating) (GLDC), nuclear gene encoding mitochondrial protein, mRNA.	461					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TCAAAAAGCCGAAAATTGATC	0.403													A	6592871	G	A	6592871	3	1	255	1	0	0	0	0	1	0	0	0	6489	1057	37	1	1745	1	GLDC	9	6592871	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		6592871	134620560	48	17880											
PAX5	5079	broad.mit.edu	37	chr9	37020754	37020754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacatccgggagtggccGtccattcacaaaaacccccc	11	6	8	16	2	1	0	1	0	0	0	3	2	3	1	6	2	2	0	6	2	3	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:37020754G>A	uc003zzo.1	-	1	539	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PAX5_uc011lqc.1_Missense_Mutation_p.R31W|PAX5_uc010mlr.1_Missense_Mutation_p.R31W|PAX5_uc011lpw.1_Missense_Mutation_p.R31W|PAX5_uc011lpx.1_Missense_Mutation_p.R31W|PAX5_uc011lpy.1_Intron|PAX5_uc010mls.1_Missense_Mutation_p.R31W|PAX5_uc011lpz.1_Missense_Mutation_p.R31W|PAX5_uc011lqa.1_Intron|PAX5_uc010mlq.1_Non-coding_Transcript|PAX5_uc011lqb.1_Non-coding_Transcript|PAX5_uc010mlo.1_Missense_Mutation_p.R31W|PAX5_uc010mlp.1_Missense_Mutation_p.R31W|PAX5_uc011lqd.1_Missense_Mutation_p.R30W|PAX5_uc011lqe.1_Intron|PAX5_uc011lqf.1_Intron|PAX5_uc011lqg.1_Intron	NM_016734	NP_057953	Q02548	PAX5_HUMAN	Homo sapiens paired box 5 (PAX5), mRNA.	31	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(41)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGGAGTGGCCGTCCATTCACA	0.522			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								A	37020754	G	A	37020754	3	1	255	1	0	0	0	0	1	0	0	0	11558	1144	40	1	1120	1	PAX5	9	37020754	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	30427883	37020754	104192677	49	17881											
CYLC2	1539	broad.mit.edu	37	chr9	105767035	105767035	+	Frame_Shift_Del	DEL	C	C	-																															accattatggatgtaccgttCtttaatgagaatttctgaga																										TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:105767035delC	uc004bbs.2	+	3	309	c.239delC	c.(238-240)tctfs	p.S80fs		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	80	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				ATGTACCGTTCTTTAATGAGA	0.398													-	105767035	C	-	105767035	7	5	255	1	0	1	0	1	0	0	0	0	4175	913	32	0	253	0	CYLC2	9	105767035	Frame_Shift_Del	DEL	C	TCGA-74-6578-01A-11D-1845-08	68746281	105767035	35446396	50	17882											
NOXA1	10811	broad.mit.edu	37	chr9	140327980	140327980	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtggccctgagggcaCgaagaggagccgacctgtcc	9	5	14	13	2	1	2	1	1	0	1	2	5	2	3	4	3	1	1	4	3	1	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr9:140327980C>T	uc004cmu.3	+	10	1120	c.985C>T	c.(985-987)Cga>Tga	p.R329*	NOXA1_uc004cmv.3_Nonsense_Mutation_p.R329*|NOXA1_uc010nch.3_Nonsense_Mutation_p.R273*	NM_006647	NP_006638	Q86UR1	NOXA1_HUMAN	Homo sapiens NADPH oxidase activator 1 (NOXA1), transcript variant 1, mRNA.	329	OPR.		Missing (in NOXA1truncated, a cDNA isolated from Caco-2 cells treated with butyrate).	R -> G (in Ref. 6; AAC18046).	regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|superoxide metabolic process	cytoplasm|NADPH oxidase complex	Rac GTPase binding|superoxide-generating NADPH oxidase activator activity			cervix(1)|large_intestine(2)|lung(2)|skin(3)|upper_aerodigestive_tract(1)	9	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000238)|Epithelial(140;0.000982)		CCTGAGGGCACGAAGAGGAGC	0.701													T	140327980	C	T	140327980	4	4	255	1	0	0	0	0	0	1	0	0	10636	528	19	1	1027	1	NOXA1	9	140327980	Nonsense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	34560945	140327980	885451	51	17883											
ZNF365	22891	broad.mit.edu	37	chr10	64415230	64415230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaaaacccaagtttggcGttggcagtcaggtaattcat	12	10	12	7	1	2	0	2	0	0	0	2	2	2	1	1	4	1	4	1	4	4	4	rs41306564		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:64415230G>A	uc001jmc.2	+						ZNF365_uc001jmd.1_Missense_Mutation_p.R77H|ZNF365_uc001jme.1_Intron|ZNF365_uc001jmf.1_Intron|ZNF365_uc009xpg.1_Intron	NM_199451	NP_955523	Q70YC4	TALAN_HUMAN	Homo sapiens zinc finger protein 365 (ZNF365), transcript variant C, mRNA.											breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					CAAGTTTGGCGTTGGCAGTCA	0.507													A	64415230	G	A	64415230	3	1	255	1	0	0	0	0	1	0	0	0	17970	1145	40	1	1718	1	ZNF365	10	64415230	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		64415230	71119517	52	17884											
SMC3	9126	broad.mit.edu	37	chr10	112350849	112350851	+	In_Frame_Del	DEL	AAC	AAC	-																															aggttacttttctgcctcttAacaagttagatgtcagggat																										TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr10:112350849_112350851delAAC	uc001kze.3	+	16	1897_1899	c.1771_1773delAAC	c.(1771-1773)aacdel	p.N591del		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	591	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TCTGCCTCTTAACAAGTTAGATG	0.325													-	112350851	AAC	-	112350849	7	5	255	1	0	1	0	1	0	0	0	0	14878	362	13	0	1837	0	SMC3	10	112350849	In_Frame_Del	DEL	AAC	TCGA-74-6578-01A-11D-1845-08	47935619	112350849	23183898	53	17885											
HPX	3263	broad.mit.edu	37	chr11	6462111	6462111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtcccagctttactcacGgaggaagaggggtggcaatg	10	8	14	9	1	1	1	1	0	0	1	2	3	2	3	1	5	2	2	1	5	4	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:6462111G>A	uc001mdg.2	-	1	144	c.83_splice	c.e1+1	p.P28_splice	HPX_uc009yfc.2_Splice_Site|HPX_uc010rai.1_Splice_Site_p.P28_splice	NM_000613	NP_000604	P02790	HEMO_HUMAN	Homo sapiens hemopexin (HPX), mRNA.	28	O-glycosylated at one, two and three sites.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		CTTTACTCACGGAGGAAGAGG	0.572													A	6462111	G	A	6462111	3	1	255	1	0	0	0	0	1	0	0	0	7401	1130	39	1	1345	1	HPX	11	6462111	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		6462111	128544405	54	17886											
DHCR7	1717	broad.mit.edu	37	chr11	71146770	71146770	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatccgtgcggcggaacAggtccttctggtggttggcc	4	9	15	13	3	1	0	0	0	1	0	3	1	3	1	4	6	2	1	4	6	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:71146770A>T	uc001oqk.3	-	8	1329	c.1079T>A	c.(1078-1080)cTg>cAg	p.L360Q	DHCR7_uc001oql.3_Missense_Mutation_p.L360Q	NM_001163817	NP_001351	Q9UBM7	DHCR7_HUMAN	Homo sapiens 7-dehydrocholesterol reductase (DHCR7), transcript variant 2, mRNA.	360					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GCGGCGGAACAGGTCCTTCTG	0.662									Smith-Lemli-Opitz syndrome				T	71146770	A	T	71146770	3	4	255	1	0	0	0	0	1	0	0	0	4516	188	7	5	352	5	DHCR7	11	71146770	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08	64684659	71146770	63859746	55	17887											
C11orf67	28971	broad.mit.edu	37	chr11	77580777	77580777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacatccagcattctcctGgtgtgcagcctgcagatgtg	7	11	10	13	0	1	1	0	0	1	1	4	1	3	1	4	1	4	3	4	1	0	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:77580777G>A	uc001oyq.3	+	2	240	c.142G>A	c.(142-144)Ggt>Agt	p.G48S	C11orf67_uc001oyp.3_Missense_Mutation_p.G48S|C11orf67_uc001oyr.1_Missense_Mutation_p.G48S	NM_024684	NP_078960	Q9H7C9	CK067_HUMAN	Homo sapiens chromosome 11 open reading frame 67 (C11orf67), mRNA.	48										stomach(2)	2	all_cancers(14;5.69e-19)|all_epithelial(13;2.15e-21)|Breast(9;1.16e-15)|Ovarian(111;0.152)		Epithelial(5;1.37e-49)|all cancers(3;5.58e-46)|BRCA - Breast invasive adenocarcinoma(5;7.26e-31)			GCATTCTCCTGGTGTGCAGCC	0.458													A	77580777	G	A	77580777	3	1	255	1	0	0	0	0	1	0	0	0	1669	1348	47	2	148	2	C11orf67	11	77580777	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6434007	77580777	57425739	56	17888											
NCAPD3	23310	broad.mit.edu	37	chr11	134048751	134048751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacgaagccaggacggaCtgaatcagaaggaagatgcg	15	3	15	8	3	1	4	1	1	0	3	1	8	1	7	1	3	2	1	1	3	4	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr11:134048751C>T	uc001qhd.1	-	20	3246	c.2640G>A	c.(2638-2640)caG>caA	p.Q880Q	NCAPD3_uc010scm.1_Non-coding_Transcript|NCAPD3_uc009zda.1_Non-coding_Transcript	NM_015261	NP_056076	P42695	CNDD3_HUMAN	Homo sapiens non-SMC condensin II complex, subunit D3 (NCAPD3), mRNA.	880					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CCAGGACGGACTGAATCAGAA	0.468													T	134048751	C	T	134048751	2	4	255	1	0	0	0	0	0	0	0	1	10282	564	20	2		2	NCAPD3	11	134048751	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	56467974	134048751	957765	57	17889											
PLBD1	79887	broad.mit.edu	37	chr12	14695158	14695158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactccataaaatcctgcaCtttatccatgatggaaggtt	12	13	7	9	0	0	1	0	1	0	0	3	2	3	2	3	2	2	3	3	2	5	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:14695158C>T	uc001rcc.1	-	2	564	c.403G>A	c.(403-405)Gtg>Atg	p.V135M		NM_024829	NP_079105	Q6P4A8	PLBL1_HUMAN	Homo sapiens phospholipase B domain containing 1 (PLBD1), mRNA.	135					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						AAATCCTGCACTTTATCCATG	0.343													T	14695158	C	T	14695158	3	4	255	1	0	0	0	0	1	0	0	0	12102	565	20	2	1294	2	PLBD1	12	14695158	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		14695158	119156737	58	17890											
ABCC9	10060	broad.mit.edu	37	chr12	21997449	21997449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attagtatcagctgaaaagcGattgagaatcagtcccaggg	14	9	11	7	1	2	2	2	2	0	1	3	4	3	2	1	1	2	2	1	1	5	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:21997449G>A	uc001rfh.3	-	25	3303	c.3283C>T	c.(3283-3285)Cgc>Tgc	p.R1095C	ABCC9_uc001rfi.1_Missense_Mutation_p.R1095C	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1095	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GCTGAAAAGCGATTGAGAATC	0.353													A	21997449	G	A	21997449	3	1	255	1	0	0	0	0	1	0	0	0	59	1058	37	1	1560	1	ABCC9	12	21997449	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	7302291	21997449	111854446	59	17891											
PKP2	5318	broad.mit.edu	37	chr12	32977045	32977045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtgagtcaatgagtccGtcacatcttctcatcgcttt	9	13	7	12	2	4	2	3	2	2	0	7	2	5	2	2	0	0	1	2	0	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:32977045G>A	uc001rlj.4	-	7	1855	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D	PKP2_uc001rlk.4_Silent_p.D536D|PKP2_uc010skj.2_Silent_p.D536D	NM_004572	NP_004563	Q99959	PKP2_HUMAN	Homo sapiens plakophilin 2 (PKP2), transcript variant 2b, mRNA.	580					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CAATGAGTCCGTCACATCTTC	0.398													A	32977045	G	A	32977045	2	1	255	1	0	0	0	0	0	0	0	1	12062	1136	40	1		1	PKP2	12	32977045	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	10979596	32977045	100874850	60	17892											
GRIP1	23426	broad.mit.edu	37	chr12	66786464	66786464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcactactcaccatctgtCtgtttcttaattttcaaggt	9	18	4	10	0	6	0	3	0	3	0	6	0	6	0	1	1	1	1	1	1	3	6			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:66786464C>G	uc001stk.3	-	16	2347	c.2106G>C	c.(2104-2106)caG>caC	p.Q702H	GRIP1_uc010sta.1_Missense_Mutation_p.Q646H|GRIP1_uc001stj.3_Missense_Mutation_p.Q484H|GRIP1_uc001stm.3_Missense_Mutation_p.Q702H|GRIP1_uc001stl.1_Missense_Mutation_p.Q594H	NM_021150	NP_066973	Q9Y3R0	GRIP1_HUMAN	Homo sapiens glutamate receptor interacting protein 1 (GRIP1), transcript variant 1, mRNA.	754	PDZ 6.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		CACCATCTGTCTGTTTCTTAA	0.413													G	66786464	C	G	66786464	3	3	255	1	0	0	0	0	1	0	0	0	6842	912	32	4	1156	4	GRIP1	12	66786464	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	33809419	66786464	67065431	61	17893											
USP30	84749	broad.mit.edu	37	chr12	109509449	109509449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattccatgtcattacctcGtcattggaagatgagcgaga	11	13	9	8	2	2	3	2	1	0	2	4	5	3	4	2	1	2	0	2	1	3	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:109509449G>A	uc010sxi.2	+	4	617	c.513G>A	c.(511-513)tcG>tcA	p.S171S	USP30_uc001tnu.4_Silent_p.S140S	NM_032663	NP_116052	Q70CQ3	UBP30_HUMAN	Homo sapiens ubiquitin specific peptidase 30 (USP30), mRNA.	171					ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATTACCTCGTCATTGGAAG	0.463													A	109509449	G	A	109509449	2	1	255	1	0	0	0	0	0	0	0	1	17163	1132	40	1		1	USP30	12	109509449	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	42722985	109509449	24342446	62	17894											
TMEM120B	144404	broad.mit.edu	37	chr12	122209423	122209423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatttatcagaagtttcGcaaccagttcttagcatttt	11	15	5	10	1	2	1	1	0	1	1	3	1	2	1	2	0	2	4	2	0	4	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr12:122209423G>A	uc001ubc.4	+	7	791	c.647G>A	c.(646-648)cGc>cAc	p.R216H	TMEM120B_uc009zxh.3_Missense_Mutation_p.R216H	NM_001080825	NP_001074294	A0PK00	T120B_HUMAN	Homo sapiens transmembrane protein 120B (TMEM120B), mRNA.	216						integral to membrane		p.R216C(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		CAGAAGTTTCGCAACCAGTTC	0.488													A	122209423	G	A	122209423	3	1	255	1	0	0	0	0	1	0	0	0	16134	1087	38	1	677	1	TMEM120B	12	122209423	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	12699974	122209423	11642472	63	17895											
LAMP1	3916	broad.mit.edu	37	chr13	113964010	113964010	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggtgctcaaccgcagctCctgtggaaaagagaacactt	12	8	11	10	1	1	1	1	0	0	1	2	3	2	2	2	2	4	3	2	2	4	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr13:113964010C>A	uc001vtm.1	+	2	517	c.236C>A	c.(235-237)tCc>tAc	p.S79Y	LAMP1_uc010tka.1_Missense_Mutation_p.S79Y	NM_005561	NP_005552	P11279	LAMP1_HUMAN	Homo sapiens lysosomal-associated membrane protein 1 (LAMP1), mRNA.	79	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			AACCGCAGCTCCTGTGGAAAA	0.443													A	113964010	C	A	113964010	3	1	255	1	0	0	0	0	1	0	0	0	8676	855	30	4	246	4	LAMP1	13	113964010	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		113964010	1205868	64	17896											
OR4K1	79544	broad.mit.edu	37	chr14	20404274	20404274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtgtctatttcctgggCggtgggcgttcttcattctg	2	19	12	8	2	4	0	1	0	3	0	5	0	5	0	1	3	0	1	1	3	1	7			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr14:20404274C>T	uc001vwj.2	+	0	508	c.449C>T	c.(448-450)gCg>gTg	p.A150V		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A150A(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		ATTTCCTGGGCGGTGGGCGTT	0.463													T	20404274	C	T	20404274	3	4	255	1	0	0	0	0	1	0	0	0	11143	768	27	1	451	1	OR4K1	14	20404274	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		20404274	86945266	65	17897											
TGM5	9333	broad.mit.edu	37	chr15	43525396	43525396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttccagaatttataatGcaaagtctacataaacattc	15	14	5	7	0	1	1	0	0	1	1	3	1	2	1	1	0	3	3	1	0	7	8			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:43525396G>A	uc001zrd.2	-	12	2164	c.2156C>T	c.(2155-2157)gCa>gTa	p.A719V	TGM5_uc001zrc.2_Missense_Mutation_p.A376V|TGM5_uc001zre.2_Missense_Mutation_p.A637V	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	719					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)	AATTTATAATGCAAAGTCTAC	0.438													A	43525396	G	A	43525396	3	1	255	1	0	0	0	0	1	0	0	0	15933	1319	46	2	10	2	TGM5	15	43525396	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08		43525396	59005996	66	17898											
BTBD1	53339	broad.mit.edu	37	chr15	83725179	83725179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcattatctgccctaagatGtttggtgagaaattctacac	11	13	9	8	0	2	2	0	1	2	2	2	3	2	2	1	2	2	2	1	2	4	5			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr15:83725179G>A	uc002bjn.3	-	1	723	c.520C>T	c.(520-522)Cat>Tat	p.H174Y	BTBD1_uc002bjo.3_Missense_Mutation_p.H174Y	NM_025238	NP_079514	Q9H0C5	BTBD1_HUMAN	Homo sapiens BTB (POZ) domain containing 1 (BTBD1), transcript variant 1, mRNA.	174						cytoplasmic mRNA processing body|protein complex	protein binding	p.H174D(2)		central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GCCCTAAGATGTTTGGTGAGA	0.363													A	83725179	G	A	83725179	3	1	255	1	0	0	0	0	1	0	0	0	1546	1377	48	2	956	2	BTBD1	15	83725179	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	40199783	83725179	18806213	67	17899											
PKD1	5310	broad.mit.edu	37	chr16	2155892	2155892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacggtgaccagggccaAcgagtactcgatgacgtgct	10	6	13	12	4	0	2	0	2	0	0	1	4	0	2	2	2	4	3	2	2	2	1	rs149467954	by1000genomes	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:2155892A>G	uc002cos.1	-	19	8046	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	TCRBV20S1_uc021tak.1_Intron|PKD1_uc002cot.1_Silent_p.L2613L|PKD1_uc010bse.1_5'Flank	NM_001009944	NP_001009944	P98161	PKD1_HUMAN	Homo sapiens polycystic kidney disease 1 (autosomal dominant) (PKD1), transcript variant 1, mRNA.	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(2)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657													G	2155892	A	G	2155892	2	3	255	1	0	0	0	0	0	0	0	1	12040	40	2	3		3	PKD1	16	2155892	Silent	SNP	A	TCGA-74-6578-01A-11D-1845-08		2155892	88198861	68	17900											
DNAH3	55567	broad.mit.edu	37	chr16	20999316	20999316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagtcaacaatcgaacTgaaaatcttggttaaaatgt	15	11	8	7	1	2	1	1	1	1	0	3	2	2	1	1	1	3	1	1	1	7	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:20999316T>A	uc010vbe.2	-	44	6673	c.6673A>T	c.(6673-6675)Agt>Tgt	p.S2225C	DNAH3_uc010vbd.2_5'Flank	NM_017539	NP_060009	Q8TD57	DYH3_HUMAN	Homo sapiens dynein, axonemal, heavy chain 3 (DNAH3), mRNA.	2225	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAATCGAACTGAAAATCTTG	0.428													A	20999316	T	A	20999316	3	1	255	1	0	0	0	0	1	0	0	0	4642	1580	55	5	5748	5	DNAH3	16	20999316	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	18843424	20999316	69355437	69	17901											
KCTD19	146212	broad.mit.edu	37	chr16	67327795	67327795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggcgggagggtctttggTttcagatttctgtgtgaggt	5	15	17	4	1	3	2	1	1	2	1	3	3	3	3	0	5	0	1	0	5	0	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr16:67327795T>C	uc002esu.2	-	11	1921	c.1870A>G	c.(1870-1872)Acc>Gcc	p.T624A	KCTD19_uc002est.2_Missense_Mutation_p.T396A|KCTD19_uc010vjj.1_Missense_Mutation_p.T367A	NM_001100915	NP_001094385	Q17RG1	KCD19_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 19 (KCTD19), mRNA.	624						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.E623K(1)		endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GGGTCTTTGGTTTCAGATTTC	0.532													C	67327795	T	C	67327795	3	2	255	1	0	0	0	0	1	0	0	0	8164	1725	60	3	930	3	KCTD19	16	67327795	Missense_Mutation	SNP	T	TCGA-74-6578-01A-11D-1845-08	46328479	67327795	23026958	70	17902											
SGSM2	9905	broad.mit.edu	37	chr17	2276367	2276367	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcatgagcaagaaggagAtggagcaggtgaggggagcc	12	4	19	6	1	0	4	0	2	0	2	1	7	0	6	1	6	3	3	1	6	2	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:2276367A>G	uc002fum.4	+	15	2086	c.1909A>G	c.(1909-1911)Atg>Gtg	p.M637V	SGSM2_uc002fun.4_Missense_Mutation_p.M592V|SGSM2_uc010vqw.2_Missense_Mutation_p.M592V|SGSM2_uc002fuo.2_3'UTR	NM_014853	NP_055668	O43147	SGSM2_HUMAN	Homo sapiens small G protein signaling modulator 2 (SGSM2), transcript variant 1, mRNA.	592	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAAGAAGGAGATGGAGCAGGT	0.617													G	2276367	A	G	2276367	3	3	255	1	0	0	0	0	1	0	0	0	14316	333	12	3	1971	3	SGSM2	17	2276367	Missense_Mutation	SNP	A	TCGA-74-6578-01A-11D-1845-08		2276367	78918843	71	17903											
UNC45B	146862	broad.mit.edu	37	chr17	33491149	33491149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgctgtgacccggagcGcgatcacttccgcaagatct	7	8	11	15	5	2	2	1	1	1	1	3	4	3	3	3	1	2	2	3	1	1	1	rs143612410		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:33491149G>A	uc002hja.3	+	8	1212	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	UNC45B_uc002hjb.3_Missense_Mutation_p.R372H|UNC45B_uc002hjc.3_Missense_Mutation_p.R372H|UNC45B_uc010cto.3_Missense_Mutation_p.R372H	NM_173167	NP_775259	Q8IWX7	UN45B_HUMAN	Homo sapiens unc-45 homolog B (C. elegans) (UNC45B), transcript variant 1, mRNA.	372					cell differentiation|muscle organ development	cytosol	binding	p.R372C(1)		breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GACCCGGAGCGCGATCACTTC	0.532													A	33491149	G	A	33491149	3	1	255	1	0	0	0	0	1	0	0	0	17091	1087	38	1	1145	1	UNC45B	17	33491149	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	31214782	33491149	47704061	72	17904											
KIF2B	84643	broad.mit.edu	37	chr17	51900723	51900723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggccatcagggaccagcGtaccgccacgaaatgggttg	9	7	13	12	4	1	0	1	0	0	0	2	2	1	1	4	3	2	2	4	3	2	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:51900723G>A	uc002iua.2	+	0	485	c.329G>A	c.(328-330)cGt>cAt	p.R110H	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	110					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.R110C(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGGACCAGCGTACCGCCACG	0.607													A	51900723	G	A	51900723	3	1	255	1	0	0	0	0	1	0	0	0	8356	1145	40	1	331	1	KIF2B	17	51900723	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	18409574	51900723	29294487	73	17905											
ENPP7	339221	broad.mit.edu	37	chr17	77708908	77708908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggggtggctgtgacgCggagccggaaagaaggcatc	11	4	17	9	3	0	2	0	1	0	1	1	4	0	4	2	6	1	2	2	6	3	0	rs142610423		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:77708908C>T	uc002jxa.3	+	2	486	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	156					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGCTGTGACGCGGAGCCGGAA	0.592													T	77708908	C	T	77708908	3	4	255	1	0	0	0	0	1	0	0	0	5176	759	27	1	476	1	ENPP7	17	77708908	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	25808185	77708908	3486302	74	17906											
C17orf70	80233	broad.mit.edu	37	chr17	79516305	79516305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctctgtggtcatcctggCtgggccaggcatctcagagt	6	11	12	12	0	3	1	2	0	2	1	6	1	4	1	2	4	0	2	2	4	0	0			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr17:79516305C>G	uc002kaq.3	-	3	1403	c.1330G>C	c.(1330-1332)Gcc>Ccc	p.A444P	C17orf70_uc002kao.1_5'Flank|C17orf70_uc010wuq.1_Non-coding_Transcript|C17orf70_uc002kap.3_Missense_Mutation_p.A293P	NM_025161	NP_079437	Q0VG06	FP100_HUMAN	Homo sapiens chromosome 17 open reading frame 70 (C17orf70), transcript variant 2, mRNA.	444					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GTCATCCTGGCTGGGCCAGGC	0.592													G	79516305	C	G	79516305	3	3	255	1	0	0	0	0	1	0	0	0	1893	797	28	4	1339	4	C17orf70	17	79516305	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	1807397	79516305	1678905	75	17907											
ZNF556	80032	broad.mit.edu	37	chr19	2877392	2877392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgtactagtgtaagaCggtacgaatgcagtcagtgt	11	13	12	5	2	1	1	1	0	0	1	1	2	1	1	0	1	3	5	0	1	5	6	rs138176298	byFrequency	TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:2877392C>T	uc002lwp.1	+	3	523	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ZNF556_uc002lwq.3_Missense_Mutation_p.R145W	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	146			R -> L (in dbSNP:rs35499960).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R146R(1)		endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		TAGTGTAAGACGGTACGAATG	0.393													T	2877392	C	T	2877392	3	4	255	1	0	0	0	0	1	0	0	0	18088	527	19	1	450	1	ZNF556	19	2877392	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		2877392	56251591	76	17908											
MUC16	94025	broad.mit.edu	37	chr19	9047753	9047753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggactggtgactgtagaaGgcatagtgtctaattcactg	11	11	12	7	0	2	2	1	1	1	1	2	3	2	3	0	3	0	2	0	3	4	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:9047753G>A	uc002mkp.3	-	4	34082	c.33878C>T	c.(33877-33879)cCt>cTt	p.P11293L		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11295	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						GACTGTAGAAGGCATAGTGTC	0.473													A	9047753	G	A	9047753	3	1	255	1	0	0	0	0	1	0	0	0	10049	1000	35	2	9965	2	MUC16	19	9047753	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6170361	9047753	50081230	77	17909											
SLC1A6	6511	broad.mit.edu	37	chr19	15082585	15082585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaatgagaggtaacaccaGcatctgcagcatcctcatca	14	7	8	12	0	3	1	2	1	1	1	4	3	4	1	2	1	4	4	2	1	2	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:15082585G>T	uc002naa.1	-	1	314	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	SLC1A6_uc010dzu.1_Missense_Mutation_p.L103M|SLC1A6_uc010xod.1_Missense_Mutation_p.A107D|SLC1A6_uc002nab.3_Missense_Mutation_p.L103M|SLC1A6_uc002nac.3_Missense_Mutation_p.L103M|SLC1A6_uc002nad.1_Missense_Mutation_p.L103M	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	103					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GGTAACACCAGCATCTGCAGC	0.567													T	15082585	G	T	15082585	3	4	255	1	0	0	0	0	1	0	0	0	14530	962	34	4	1419	4	SLC1A6	19	15082585	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	6034832	15082585	44046398	78	17910											
CILP2	148113	broad.mit.edu	37	chr19	19655518	19655518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggcaacgtggagatcCgggagcggcgcctgttcaat	7	8	17	9	4	1	1	1	0	0	1	2	3	2	2	2	5	2	2	2	5	2	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:19655518C>T	uc002nmw.4	+	7	2267	c.2182C>T	c.(2182-2184)Cgg>Tgg	p.R728W	CILP2_uc002nmv.4_Missense_Mutation_p.R722W	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	722						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CGTGGAGATCCGGGAGCGGCG	0.706													T	19655518	C	T	19655518	3	4	255	1	0	0	0	0	1	0	0	0	3460	643	23	1	2194	1	CILP2	19	19655518	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	4572933	19655518	39473465	79	17911											
FGF21	26291	broad.mit.edu	37	chr19	49261318	49261318	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacaccgggaccctgcAccccgaggaccagctcgctt	7	5	9	20	3	0	0	0	0	0	0	2	3	1	2	7	2	2	3	7	2	0	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:49261318A>C	uc002pkn.1	+	3	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FUT1_uc002pkk.3_5'Flank|FUT1_uc002pkm.1_5'Flank|FGF21_uc002pko.1_Silent_p.A157A	NM_019113	NP_061986	Q9NSA1	FGF21_HUMAN	Homo sapiens fibroblast growth factor 21 (FGF21), mRNA.	157					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682													C	49261318	A	C	49261318	2	2	255	1	0	0	0	0	0	0	0	1	5899	146	6	5		5	FGF21	19	49261318	Silent	SNP	A	TCGA-74-6578-01A-11D-1845-08	29605800	49261318	9867665	80	17912											
PTOV1	53635	broad.mit.edu	37	chr19	50360994	50360996	+	In_Frame_Del	DEL	CAA	CAA	-																															tcaggcccagtccagatcgtCaacaacaagtttctggcatg																										TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:50360994_50360996delCAA	uc002pqf.1	+	6	929_931	c.759_761delCAA	c.(757-762)gtcaac>gtc	p.N255del	PTOV1_uc002pqb.4_In_Frame_Del_p.N223del|PTOV1_uc002pqa.3_Non-coding_Transcript|PTOV1_uc002pqd.3_Non-coding_Transcript|PTOV1_uc002pqe.2_Non-coding_Transcript	NM_017432	NP_059128	Q86YD1	PTOV1_HUMAN	Homo sapiens prostate tumor overexpressed 1 (PTOV1), mRNA.	255	Interaction with FLOT1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|plasma membrane				endometrium(5)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)	16		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.0132)		TCCAGATCGTCAACAACAAGTTT	0.616													-	50360996	CAA	-	50360994	7	5	255	1	0	1	0	1	0	0	0	0	12855	813	29	0	785	0	PTOV1	19	50360994	In_Frame_Del	DEL	CAA	TCGA-74-6578-01A-11D-1845-08	1099676	50360994	8767989	81	17913											
LILRB5	10990	broad.mit.edu	37	chr19	54758761	54758761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactttgactttagacacagCgggggatgggctgccccctc	7	10	12	12	1	0	2	0	1	0	1	1	3	0	3	2	3	3	1	2	3	2	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:54758761C>T	uc010yer.1	-	5	1176	c.1065G>A	c.(1063-1065)ccG>ccA	p.P355P	LILRB3_uc002qew.2_Intron|LILRB5_uc002qey.3_Silent_p.P364P|LILRB5_uc002qez.3_Silent_p.P264P|LILRB5_uc002qex.3_Silent_p.P364P|LILRB5_uc002qfa.1_Silent_p.P254P|LILRB5_uc010yes.1_Non-coding_Transcript			O75023	LIRB5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5 (LILRB5), transcript variant 1, mRNA.	364	Ig-like C2-type 4.			L -> S (in Ref. 2; BAB71361).	cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TTAGACACAGCGGGGGATGGG	0.547													T	54758761	C	T	54758761	2	4	255	1	0	0	0	0	0	0	0	1	8854	755	27	1		1	LILRB5	19	54758761	Silent	SNP	C	TCGA-74-6578-01A-11D-1845-08	4397767	54758761	4370222	82	17914											
TNNT1	7138	broad.mit.edu	37	chr19	55648558	55648558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcccgccccgtctgcCgcttaccacgcttctgttct	3	13	6	19	4	5	0	1	0	4	0	6	0	5	0	5	0	2	3	5	0	1	3			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr19:55648558C>T	uc002qjb.4	-	10	613	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	TNNT1_uc002qjc.4_Missense_Mutation_p.R175Q|TNNT1_uc002qje.4_Missense_Mutation_p.R164Q|TNNT1_uc002qjd.4_Missense_Mutation_p.R164Q	NM_003283	NP_003274	P13805	TNNT1_HUMAN	Homo sapiens troponin T type 1 (skeletal, slow) (TNNT1), transcript variant 1, mRNA.	175					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		CCCCGTCTGCCGCTTACCACG	0.627													T	55648558	C	T	55648558	3	4	255	1	0	0	0	0	1	0	0	0	16430	652	23	1	328	1	TNNT1	19	55648558	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	889797	55648558	3480425	83	17915											
SNRPB2	6629	broad.mit.edu	37	chr20	16721056	16721056	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttatccatgctgtttaaTcagtaagttttttcataaat	12	19	5	5	0	2	0	2	0	0	0	3	0	3	0	1	0	1	5	1	0	5	8			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:16721056T>C	uc002wph.2	+	5	752	c.516T>C	c.(514-516)aaT>aaC	p.N172N	SNRPB2_uc002wpi.2_Silent_p.N172N	NM_003092	NP_937863	P08579	RU2B_HUMAN	Homo sapiens small nuclear ribonucleoprotein polypeptide B (SNRPB2), transcript variant 1, mRNA.	172	RRM 2.					catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TGCTGTTTAATCAGTAAGTTT	0.348													C	16721056	T	C	16721056	2	2	255	1	0	0	0	0	0	0	0	1	14956	1432	50	3		3	SNRPB2	20	16721056	Silent	SNP	T	TCGA-74-6578-01A-11D-1845-08		16721056	46304464	84	17916											
NKX2-4	644524	broad.mit.edu	37	chr20	21377636	21377636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggttggcgccgtaccagccGgtggccgcgccgccccgcat	3	5	16	17	7	0	0	0	0	0	0	0	0	0	0	7	4	2	3	7	4	1	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:21377636G>A	uc010gcz.3	-	0	412	c.402C>T	c.(400-402)acC>acT	p.T134T		NM_033176	NP_149416	Q9H2Z4	NKX24_HUMAN	Homo sapiens NK2 homeobox 4 (NKX2-4), mRNA.	134					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|upper_aerodigestive_tract(1)	3						CGTACCAGCCGGTGGCCGCGC	0.736													A	21377636	G	A	21377636	2	1	255	1	0	0	0	0	0	0	0	1	10528	1103	39	1		1	NKX2-4	20	21377636	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08	4656580	21377636	41647884	85	17917											
CST9	128822	broad.mit.edu	37	chr20	23584188	23584188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggctttgtcagctgctcCtgtgcccacaccacacccca	8	9	7	17	0	1	0	1	0	0	0	2	0	2	0	5	1	3	3	5	1	1	1			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr20:23584188C>T	uc002wtl.3	-	1	548	c.439G>A	c.(439-441)Gga>Aga	p.G147R		NM_001008693	NP_001008693	Q5W186	CST9_HUMAN	Homo sapiens cystatin 9 (testatin) (CST9), mRNA.	147						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					TCAGCTGCTCCTGTGCCCACA	0.577													T	23584188	C	T	23584188	3	4	255	1	0	0	0	0	1	0	0	0	4012	690	24	2	44	2	CST9	20	23584188	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08	2206552	23584188	39441332	86	17918											
TPTE	7179	broad.mit.edu	37	chr21	10906911	10906911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggagctatacttaatcGgatccagctacaacatcact	13	9	9	10	1	1	0	1	0	0	0	3	2	2	2	1	3	5	2	1	3	5	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr21:10906911G>A	uc002yip.1	-	23	2018	c.1650C>T	c.(1648-1650)tcC>tcT	p.S550S	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Silent_p.S532S|TPTE_uc002yir.1_Silent_p.S512S|TPTE_uc010gkv.1_Silent_p.S412S	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	550					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTTAATCGGATCCAGCTA	0.398													A	10906911	G	A	10906911	2	1	255	1	0	0	0	0	0	0	0	1	16531	1103	39	1		1	TPTE	21	10906911	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		10906911	37222984	87	17919											
CELSR1	9620	broad.mit.edu	37	chr22	46932243	46932243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctcacgcgctcctcctcGccctcgatggtgtagtgcgc	4	10	11	16	5	1	0	1	0	0	0	5	1	3	0	3	1	2	3	3	1	2	2			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chr22:46932243G>A	uc003bhw.1	-	0	825	c.825C>T	c.(823-825)ggC>ggT	p.G275G		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	275	Cadherin 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCTCCTCCTCGCCCTCGATGG	0.632													A	46932243	G	A	46932243	2	1	255	1	0	0	0	0	0	0	0	1	3251	1074	38	1		1	CELSR1	22	46932243	Silent	SNP	G	TCGA-74-6578-01A-11D-1845-08		46932243	4372323	88	17920											
DACH2	117154	broad.mit.edu	37	chrX	86068163	86068163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagttgctttggataatgctCgcatccaggagaagcagatt	12	11	11	7	1	0	2	0	0	0	2	2	4	1	3	1	2	3	5	1	2	3	4			TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:86068163C>T	uc004eew.2	+	8	1590	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	DACH2_uc004eex.2_Missense_Mutation_p.R461C|DACH2_uc010nmq.2_Missense_Mutation_p.R340C|DACH2_uc011mra.1_Missense_Mutation_p.R307C|DACH2_uc010nmr.2_Missense_Mutation_p.R255C|DACH2_uc004eey.3_Missense_Mutation_p.R167C|DACH2_uc004eez.3_Missense_Mutation_p.R157C	NM_053281	NP_001132987	Q96NX9	DACH2_HUMAN	Homo sapiens dachshund homolog 2 (Drosophila) (DACH2), transcript variant 1, mRNA.	474	DACHbox-C.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding	p.A473T(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGATAATGCTCGCATCCAGGA	0.373													T	86068163	C	T	86068163	3	4	255	1	0	0	0	0	1	0	0	0	4255	884	31	1	1454	1	DACH2	23	86068163	Missense_Mutation	SNP	C	TCGA-74-6578-01A-11D-1845-08		86068163	69202397	89	17921											
SLC6A14	11254	broad.mit.edu	37	chrX	115588823	115588823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatagacctaattatggcGcaattccataccctgactgg	11	12	7	11	1	1	2	1	1	0	1	2	2	2	2	3	2	1	1	3	2	5	6	rs142971231		TCGA-74-6578-01A-11D-1845-08	TCGA-74-6578-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ae2128-4d95-4261-a30d-bd6be58de8e0	77b7996e-f991-4760-a58d-1a6f7d239ddf	g.chrX:115588823G>A	uc004eqi.3	+	12	1794	c.1663G>A	c.(1663-1665)Gca>Aca	p.A555T		NM_007231	NP_009162	Q9UN76	S6A14_HUMAN	Homo sapiens solute carrier family 6 (amino acid transporter), member 14 (SLC6A14), mRNA.	555					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.G554G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TAATTATGGCGCAATTCCATA	0.358													A	115588823	G	A	115588823	3	1	255	1	0	0	0	0	1	0	0	0	14771	1087	38	1	1713	1	SLC6A14	23	115588823	Missense_Mutation	SNP	G	TCGA-74-6578-01A-11D-1845-08	29520660	115588823	39681737	90	17922											
CCDC27	148870	broad.mit.edu	37	chr1	3687985	3687985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattatctcagagagaagCgactactataatcagctgaa	17	9	8	7	1	2	4	2	1	1	3	3	6	2	4	0	0	3	1	0	0	7	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:3687985C>T	uc001akv.2	+	11	1950	c.1869C>T	c.(1867-1869)agC>agT	p.S623S	LOC388588_uc001akw.4_5'Flank	NM_152492	NP_689705	Q2M243	CCD27_HUMAN	Homo sapiens coiled-coil domain containing 27 (CCDC27), mRNA.	623										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		CAGAGAGAAGCGACTACTATA	0.547													T	3687985	C	T	3687985	2	4	256	1	0	0	0	0	0	0	0	1	2828	767	27	1		1	CCDC27	1	3687985	Silent	SNP	C	TCGA-74-6584-01A-11D-1845-08		3687985	245562636	1	17923											
TINAGL1	64129	broad.mit.edu	37	chr1	32049166	32049166	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcggtcatgaacatgcAtgaaatttatgtaagtccat	12	14	7	8	1	1	2	1	2	0	0	4	2	3	2	2	1	2	2	2	1	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:32049166A>C	uc001bta.3	+	4	698	c.572A>C	c.(571-573)cAt>cCt	p.H191P	TINAGL1_uc010ogj.2_Missense_Mutation_p.H160P|TINAGL1_uc010ogk.1_Missense_Mutation_p.H191P|TINAGL1_uc021oko.1_Missense_Mutation_p.H86P	NM_022164	NP_001191344	Q9GZM7	TINAL_HUMAN	Homo sapiens tubulointerstitial nephritis antigen-like 1 (TINAGL1), transcript variant 1, mRNA.	191					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		ATGAACATGCATGAAATTTAT	0.592													C	32049166	A	C	32049166	3	2	256	1	0	0	0	0	1	0	0	0	16022	217	8	5	586	5	TINAGL1	1	32049166	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	28361181	32049166	217201455	2	17924											
RORC	6097	broad.mit.edu	37	chr1	151789175	151789175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgccaggcatttctgcAggcggcagtgctggcatcgg	6	7	15	13	3	1	0	0	0	1	0	2	0	1	0	2	5	3	5	2	5	0	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:151789175A>G	uc001ezh.3	-	3	371	c.263T>C	c.(262-264)cTg>cCg	p.L88P	RORC_uc001ezg.3_Missense_Mutation_p.L67P|RORC_uc010pdo.2_Missense_Mutation_p.L142P|RORC_uc010pdp.2_Missense_Mutation_p.L88P	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	88					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GCATTTCTGCAGGCGGCAGTG	0.662													G	151789175	A	G	151789175	3	3	256	1	0	0	0	0	1	0	0	0	13621	188	7	3	1325	3	RORC	1	151789175	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	119740009	151789175	97461446	3	17925											
HRNR	388697	broad.mit.edu	37	chr1	152185788	152185788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagacccgtgtcggcCgtggctaagagactggccag	9	6	14	12	3	0	3	0	1	0	2	1	4	0	3	4	3	1	1	4	3	2	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:152185788C>T	uc001ezt.1	-	2	8393	c.8317G>A	c.(8317-8319)Ggc>Agc	p.G2773S		NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	Homo sapiens hornerin (HRNR), mRNA.	2773					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGTGTCGGCCGTGGCTAAGA	0.602													T	152185788	C	T	152185788	3	4	256	1	0	0	0	0	1	0	0	0	7414	652	23	1	239	1	HRNR	1	152185788	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	396613	152185788	97064833	4	17926											
CEP350	9857	broad.mit.edu	37	chr1	180062525	180062525	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacaagtggagccactagcTttggtagtaatgaggaaatc	13	10	11	7	0	0	1	0	1	0	0	1	3	0	3	1	3	3	3	1	3	6	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr1:180062525T>A	uc001gnt.3	+	33	7668	c.7285T>A	c.(7285-7287)Ttt>Att	p.F2429I	CEP350_uc009wxl.2_Missense_Mutation_p.F2428I|CEP350_uc001gnv.3_Missense_Mutation_p.F564I|CEP350_uc001gnw.1_Missense_Mutation_p.F186I|CEP350_uc001gnx.1_Missense_Mutation_p.F186I	NM_014810	NP_055625	Q5VT06	CE350_HUMAN	Homo sapiens centrosomal protein 350kDa (CEP350), mRNA.	2429						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGCCACTAGCTTTGGTAGTAA	0.453													A	180062525	T	A	180062525	3	1	256	1	0	0	0	0	1	0	0	0	3284	1609	56	5	7415	5	CEP350	1	180062525	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	27876737	180062525	69188096	5	17927											
ADCY3	109	broad.mit.edu	37	chr2	25044464	25044464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catggccagcgcgaagtcggCcaggtcagccaggtgctgcc	7	5	15	14	3	1	0	1	0	0	0	2	1	1	0	4	4	4	1	4	4	1	0			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:25044464C>T	uc010ykm.2	-	18	3251	c.3052G>A	c.(3052-3054)Gcc>Acc	p.A1018T	CENPO_uc002rfp.2_3'UTR|CENPO_uc002rfq.2_3'UTR|ADCY3_uc002rfr.4_Missense_Mutation_p.A604T|ADCY3_uc002rfs.4_Missense_Mutation_p.A1017T	NM_004036	NP_004027	O60266	ADCY3_HUMAN	Homo sapiens adenylate cyclase 3 (ADCY3), mRNA.	1017					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCGAAGTCGGCCAGGTCAGCC	0.607													T	25044464	C	T	25044464	3	4	256	1	0	0	0	0	1	0	0	0	295	739	26	2	397	2	ADCY3	2	25044464	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		25044464	218154909	6	17928											
C2orf55	343990	broad.mit.edu	37	chr2	99438371	99438371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtcctgggctccttcctggGttcccgctctcccgggccgg	0	10	13	18	4	1	0	0	0	1	0	6	0	5	0	6	4	0	3	6	4	0	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:99438371G>T	uc002szf.1	-	6	2659	c.2365C>A	c.(2365-2367)Ccc>Acc	p.P789T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	789	Pro-rich.									NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTCCTGGGTTCCCGCTCT	0.736													T	99438371	G	T	99438371	3	4	256	1	0	0	0	0	1	0	0	0	2197	1261	44	4	539	4	C2orf55	2	99438371	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	74393907	99438371	143761002	7	17929											
BOLL	66037	broad.mit.edu	37	chr2	198643759	198643759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttcacagacccatactggGaaaaaaattttcttaaatca	16	12	4	9	0	3	1	2	0	1	1	3	2	3	2	1	1	1	0	1	1	6	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr2:198643759G>A	uc002uuu.1	-	2	558	c.179C>T	c.(178-180)tCc>tTc	p.S60F	BOLL_uc002uur.2_Missense_Mutation_p.S60F|BOLL_uc002uus.2_Missense_Mutation_p.S54F|BOLL_uc002uut.2_Missense_Mutation_p.S66F|BOLL_uc010zha.1_5'UTR	NM_033030	NP_149019	Q8N9W6	BOLL_HUMAN	Homo sapiens bol, boule-like (Drosophila) (BOLL), transcript variant 2, mRNA.	54	RRM.				cell differentiation|meiosis|multicellular organismal development|positive regulation of translational initiation|spermatogenesis	cytoplasm	nucleotide binding|protein binding|RNA binding|translation activator activity			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						CCCATACTGGGAAAAAAATTT	0.318													A	198643759	G	A	198643759	3	1	256	1	0	0	0	0	1	0	0	0	1495	1174	41	2	726	2	BOLL	2	198643759	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	99205388	198643759	44555614	8	17930											
OR5AC2	81050	broad.mit.edu	37	chr3	97806212	97806212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgtacttattccttGgtggtttagccttttcagat	6	18	8	9	0	1	1	1	0	0	1	2	1	2	1	3	2	3	2	3	2	3	8			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:97806212G>A	uc011bgs.2	+	0	196	c.196G>A	c.(196-198)Ggt>Agt	p.G66S		NM_054106	NP_473447	Q9NZP5	O5AC2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AC, member 2 (OR5AC2), mRNA.	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						CTTATTCCTTGGTGGTTTAGC	0.438													A	97806212	G	A	97806212	3	1	256	1	0	0	0	0	1	0	0	0	11217	1348	47	2	198	2	OR5AC2	3	97806212	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08		97806212	100216218	9	17931											
SENP7	57337	broad.mit.edu	37	chr3	101046635	101046635	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacgatgagtttttagttTaacttcccactctacctcta	9	17	5	10	1	2	2	0	2	2	0	3	3	3	2	2	0	2	2	2	0	4	9			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:101046635T>C	uc003dut.3	-	22	3001	c.2890A>G	c.(2890-2892)Aaa>Gaa	p.K964E	SENP7_uc003duu.3_Missense_Mutation_p.K899E|SENP7_uc003duv.3_Missense_Mutation_p.K931E|SENP7_uc003duw.3_Missense_Mutation_p.K898E|SENP7_uc003dux.3_Missense_Mutation_p.K800E|SENP7_uc003dus.3_Missense_Mutation_p.K152E	NM_020654	NP_065705	Q9BQF6	SENP7_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 7 (SENP7), transcript variant 1, mRNA.	964	Protease.				proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTTTTTAGTTTAACTTCCCAC	0.338													C	101046635	T	C	101046635	3	2	256	1	0	0	0	0	1	0	0	0	14144	1763	61	3	270	3	SENP7	3	101046635	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	3240423	101046635	96975795	10	17932											
AADAC	13	broad.mit.edu	37	chr3	151545690	151545690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttctgagctggctaaaaaAtatccagggttcctagatgt	12	12	10	7	0	1	2	0	1	1	1	3	2	3	2	2	2	1	4	2	2	5	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr3:151545690A>G	uc003eze.3	+	4	1020	c.930A>G	c.(928-930)aaA>aaG	p.K310K		NM_001086	NP_001077	P22760	AAAD_HUMAN	Homo sapiens arylacetamide deacetylase (esterase) (AADAC), mRNA.	310					positive regulation of triglyceride catabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	carboxylesterase activity|deacetylase activity|serine hydrolase activity|triglyceride lipase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(5)|skin(2)	19		Myeloproliferative disorder(1037;0.0255)|all_neural(597;0.112)	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TGGCTAAAAAATATCCAGGGT	0.418													G	151545690	A	G	151545690	2	3	256	1	0	0	0	0	0	0	0	1	10	98	4	3		3	AADAC	3	151545690	Silent	SNP	A	TCGA-74-6584-01A-11D-1845-08	50499055	151545690	46476740	11	17933											
ATOH1	474	broad.mit.edu	37	chr4	94750754	94750754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggggaacagccaccgcCgcctccagcctcctgcaaaa	10	3	11	17	3	0	0	0	0	0	0	2	2	2	2	7	3	4	1	7	3	3	0			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:94750754C>T	uc003hta.1	+	0	677	c.677C>T	c.(676-678)cCg>cTg	p.P226L		NM_005172	NP_005163	Q92858	ATOH1_HUMAN	Homo sapiens atonal homolog 1 (Drosophila) (ATOH1), mRNA.	226	Poly-Pro.				transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.57e-07)		CAGCCACCGCCGCCTCCAGCC	0.632													T	94750754	C	T	94750754	3	4	256	1	0	0	0	0	1	0	0	0	1117	652	23	1	679	1	ATOH1	4	94750754	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		94750754	96403522	12	17934											
ZNF827	152485	broad.mit.edu	37	chr4	146791485	146791485	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctggggctttagtgcGtcctcagagacgcctggggc	4	10	14	13	2	1	1	1	0	0	1	3	2	3	1	4	4	1	1	4	4	1	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr4:146791485G>A	uc003ikn.3	-	4	1941	c.1893C>T	c.(1891-1893)gaC>gaT	p.D631D	ZNF827_uc003ikm.3_Silent_p.D631D|ZNF827_uc010iox.3_Silent_p.D281D	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	631					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					GCTTTAGTGCGTCCTCAGAGA	0.537													A	146791485	G	A	146791485	2	1	256	1	0	0	0	0	0	0	0	1	18279	1136	40	1		1	ZNF827	4	146791485	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	52040731	146791485	44362791	13	17935											
IL31RA	133396	broad.mit.edu	37	chr5	55203287	55203287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcttatgccaaagaaggCggtatgaatggacaagaccc	14	6	12	9	1	0	3	0	1	0	2	0	4	0	4	2	4	1	2	2	4	6	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:55203287C>T	uc003jql.3	+	10	1546	c.1354_splice	c.e10+1	p.V452_splice	IL31RA_uc003jqk.3_Splice_Site_p.V452_splice|IL31RA_uc011cqj.2_Splice_Site_p.V310_splice|IL31RA_uc003jqm.3_Splice_Site_p.V433_splice|IL31RA_uc003jqn.3_Splice_Site_p.V452_splice|IL31RA_uc010iwa.1_Splice_Site_p.V420_splice|IL31RA_uc021xyq.1_Splice_Site_p.V433_splice|IL31RA_uc003jqo.3_Splice_Site_p.V310_splice	NM_139017	NP_001229568	Q8NI17	IL31R_HUMAN	Homo sapiens interleukin 31 receptor A (IL31RA), transcript variant 1, mRNA.	420	Fibronectin type-III 5.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				CCAAAGAAGGCGGTATGAATG	0.463													T	55203287	C	T	55203287	2	4	256	1	0	0	0	0	0	0	0	1	7749	782	27	1		1	IL31RA	5	55203287	Silent	SNP	C	TCGA-74-6584-01A-11D-1845-08		55203287	125711973	14	17936											
FBN2	2201	broad.mit.edu	37	chr5	127624839	127624839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacacagcgtactccagtgTagtcaaggttgtagcccatt	10	10	9	12	1	1	0	1	0	0	0	2	0	2	0	3	1	3	4	3	1	4	5			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr5:127624839T>C	uc003kuu.3	-	51	7056	c.6617A>G	c.(6616-6618)tAc>tGc	p.Y2206C		NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	2206	EGF-like 36; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACTCCAGTGTAGTCAAGGTT	0.428													C	127624839	T	C	127624839	3	2	256	1	0	0	0	0	1	0	0	0	5752	1638	57	3	2177	3	FBN2	5	127624839	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08	72421552	127624839	53290421	15	17937											
DSP	1832	broad.mit.edu	37	chr6	7581687	7581687	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttggaactaaggagccAgctgcagatcagcaacaacc	14	6	9	12	0	2	1	1	0	1	1	2	3	2	3	2	2	7	3	2	2	4	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:7581687A>T	uc003mxp.1	+	22	5543	c.5264A>T	c.(5263-5265)cAg>cTg	p.Q1755L	DSP_uc003mxq.1_Intron|DSP_uc021yle.1_Intron	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	1755	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTAAGGAGCCAGCTGCAGATC	0.483													T	7581687	A	T	7581687	3	4	256	1	0	0	0	0	1	0	0	0	4820	188	7	5	5354	5	DSP	6	7581687	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08		7581687	163533380	16	17938											
ZNF184	7738	broad.mit.edu	37	chr6	27419109	27419109	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggatgcagtctctgatgTttgttgagagcagagcgata	10	11	13	7	1	1	3	0	2	1	2	2	6	1	4	1	1	3	4	1	1	1	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:27419109T>C	uc003njj.3	-	4	3040	c.2229A>G	c.(2227-2229)aaA>aaG	p.K743K	ZNF184_uc010jqv.3_Silent_p.K743K|ZNF184_uc003nji.3_Silent_p.K743K	NM_007149	NP_009080	Q99676	ZN184_HUMAN	Homo sapiens zinc finger protein 184 (ZNF184), mRNA.	743					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GTCTCTGATGTTTGTTGAGAG	0.378													C	27419109	T	C	27419109	2	2	256	1	0	0	0	0	0	0	0	1	17852	1722	60	3		3	ZNF184	6	27419109	Silent	SNP	T	TCGA-74-6584-01A-11D-1845-08	19837422	27419109	143695958	17	17939											
PKHD1	5314	broad.mit.edu	37	chr6	51777281	51777281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacaacttcatccccaGggttccagtccacagcatct	10	10	7	14	0	2	2	1	2	1	0	5	2	5	2	4	1	2	2	4	1	1	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51777281G>T	uc003pah.1	-	37	6491	c.6215C>A	c.(6214-6216)cCt>cAt	p.P2072H	PKHD1_uc010jzn.1_Missense_Mutation_p.P97H|PKHD1_uc003pai.3_Missense_Mutation_p.P2072H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	2072					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTCATCCCCAGGGTTCCAGTC	0.478													T	51777281	G	T	51777281	3	4	256	1	0	0	0	0	1	0	0	0	12048	1000	35	4	6168	4	PKHD1	6	51777281	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	24358172	51777281	119337786	18	17940											
PKHD1	5314	broad.mit.edu	37	chr6	51947232	51947232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaatccaagaaaacaggaAagacgtcacagggaacactc	19	3	9	10	1	1	2	1	0	0	2	3	4	2	4	1	2	2	1	1	2	6	0			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:51947232A>G	uc003pah.1	-	3	515	c.239T>C	c.(238-240)tTt>tCt	p.F80S	PKHD1_uc003pai.3_Missense_Mutation_p.F80S	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	80	IPT/TIG 1; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAAACAGGAAAGACGTCACA	0.502													G	51947232	A	G	51947232	3	3	256	1	0	0	0	0	1	0	0	0	12048	14	1	3	12280	3	PKHD1	6	51947232	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	169951	51947232	119167835	19	17941											
COL10A1	1300	broad.mit.edu	37	chr6	116442879	116442879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggccccggggtcctggtaGgccagctggtccaacatctc	5	8	14	14	1	1	0	0	0	1	0	4	0	3	0	5	6	2	2	5	6	2	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr6:116442879G>A	uc003pwm.3	-	2	496	c.400C>T	c.(400-402)Cta>Tta	p.L134L	NT5DC1_uc003pwj.3_Intron|NT5DC1_uc003pwl.3_Intron	NM_000493	NP_000484	Q03692	COAA1_HUMAN	Homo sapiens collagen, type X, alpha 1 (COL10A1), mRNA.	134	Triple-helical region.				skeletal system development	collagen	metal ion binding			central_nervous_system(1)|endometrium(2)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	13		all_cancers(87;0.0176)|all_epithelial(87;0.0263)|Colorectal(196;0.234)		all cancers(137;0.0157)|OV - Ovarian serous cystadenocarcinoma(136;0.0325)|GBM - Glioblastoma multiforme(226;0.0446)|Epithelial(106;0.0711)		GGTCCTGGTAGGCCAGCTGGT	0.602													A	116442879	G	A	116442879	2	1	256	1	0	0	0	0	0	0	0	1	3697	991	35	2		2	COL10A1	6	116442879	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	64495647	116442879	54672188	20	17942											
COBL	23242	broad.mit.edu	37	chr7	51287539	51287539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatgcgaaccaagttctgCtgcgacccgagggccccatc	8	8	10	15	3	2	0	1	0	1	0	3	3	2	0	4	1	4	2	4	1	2	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr7:51287539C>A	uc003tps.3	-	1	329	c.144G>T	c.(142-144)caG>caT	p.Q48H	COBL_uc003tpr.4_Missense_Mutation_p.Q48H|COBL_uc011kcl.2_Missense_Mutation_p.Q48H|COBL_uc010kzc.3_Missense_Mutation_p.Q48H|COBL_uc003tpt.3_Missense_Mutation_p.Q48H	NM_015198	NP_056013	O75128	COBL_HUMAN	Homo sapiens cordon-bleu homolog (mouse) (COBL), mRNA.	48										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CCAAGTTCTGCTGCGACCCGA	0.632													A	51287539	C	A	51287539	3	1	256	1	0	0	0	0	1	0	0	0	3684	796	28	4	3689	4	COBL	7	51287539	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		51287539	107851124	21	17943											
PHF2	5253	broad.mit.edu	37	chr9	96421820	96421820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagcatgaggacgagctcCcggagcacttcaaaccttca	12	6	10	13	2	2	2	2	1	0	1	3	5	3	4	2	2	4	3	2	2	1	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:96421820C>T	uc004aub.3	+	10	1414	c.1267C>T	c.(1267-1269)Ccg>Tcg	p.P423S	PHF2_uc011lug.1_Missense_Mutation_p.P306S	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	423					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GGACGAGCTCCCGGAGCACTT	0.612													T	96421820	C	T	96421820	3	4	256	1	0	0	0	0	1	0	0	0	11907	623	22	2	1309	2	PHF2	9	96421820	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		96421820	44791611	22	17944											
LPAR1	1902	broad.mit.edu	37	chr9	113703965	113703965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggtatagcacccataaCgatggccatagtccagatga	13	8	10	10	1	0	2	0	1	0	1	1	3	1	2	3	2	2	2	3	2	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr9:113703965C>T	uc011lwo.2	-	1	534	c.532G>A	c.(532-534)Gtt>Att	p.V178I	LPAR1_uc004bfa.3_Missense_Mutation_p.V177I|LPAR1_uc011lwm.2_Missense_Mutation_p.V178I|LPAR1_uc004bfc.3_Missense_Mutation_p.V177I|LPAR1_uc011lwn.2_Missense_Mutation_p.V159I|LPAR1_uc004bfb.3_Missense_Mutation_p.V177I|LPAR1_uc010mub.3_Missense_Mutation_p.V177I	NM_057159	NP_476500	Q92633	LPAR1_HUMAN	Homo sapiens lysophosphatidic acid receptor 1 (LPAR1), transcript variant 2, mRNA.	177					positive regulation of I-kappaB kinase/NF-kappaB cascade	cell surface|integral to plasma membrane		p.V177I(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						GCACCCATAACGATGGCCATA	0.498													T	113703965	C	T	113703965	3	4	256	1	0	0	0	0	1	0	0	0	8974	536	19	1	573	1	LPAR1	9	113703965	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	17282145	113703965	27509466	23	17945											
SUFU	51684	broad.mit.edu	37	chr10	104353785	104353785	+	Frame_Shift_Del	DEL	G	G	-																															gctgataactgacatgcggaGgggagagaccatatttgaga																										TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr10:104353785delG	uc001kvy.2	+	5	910	c.719delG	c.(718-720)aggfs	p.R240fs	SUFU_uc001kvw.2_Frame_Shift_Del_p.R240fs|SUFU_uc001kvx.3_Frame_Shift_Del_p.R240fs|SUFU_uc009xxe.2_5'Flank|SUFU_uc009xxf.2_5'Flank	NM_016169	NP_057253	Q9UMX1	SUFU_HUMAN	Homo sapiens suppressor of fused homolog (Drosophila) (SUFU), transcript variant 1, mRNA.	240					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GACATGCGGAGGGGAGAGACC	0.532			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				-	104353785	G	-	104353785	7	5	256	1	0	1	0	1	0	0	0	0	15464	1000	35	0	741	0	SUFU	10	104353785	Frame_Shift_Del	DEL	G	TCGA-74-6584-01A-11D-1845-08		104353785	31180962	24	17946											
SIGIRR	59307	broad.mit.edu	37	chr11	408155	408155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagacttcagtgctggtcacGttgacccccaggacactgga	9	9	11	12	1	2	2	2	1	0	1	2	4	2	4	2	3	1	2	2	3	1	3	rs142561304		TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:408155G>A	uc001lpg.3	-	2	411	c.258C>T	c.(256-258)aaC>aaT	p.N86N	SIGIRR_uc001lpd.2_Silent_p.N86N|SIGIRR_uc001lpf.2_Silent_p.N86N|SIGIRR_uc001lpe.1_Silent_p.N86N			Q6IA17	SIGIR_HUMAN	Homo sapiens single immunoglobulin and toll-interleukin 1 receptor (TIR) domain (SIGIRR), transcript variant 3, mRNA.	86	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGCTGGTCACGTTGACCCCCA	0.577													A	408155	G	A	408155	2	1	256	1	0	0	0	0	0	0	0	1	14398	1136	40	1		1	SIGIRR	11	408155	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		408155	134598361	25	17947											
OR10AG1	282770	broad.mit.edu	37	chr11	55735664	55735664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcataagaaaaaaacaCatttgtgtagcacaagcaaa	21	6	6	8	0	0	1	0	0	0	1	0	1	0	1	1	0	4	4	1	0	8	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:55735664C>T	uc010rit.2	-	0	276	c.276G>A	c.(274-276)atG>atA	p.M92I		NM_001005491	NP_001005491	Q8NH19	O10AG_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily AG, member 1 (OR10AG1), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M92T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(24)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	40	Esophageal squamous(21;0.0137)					GAAAAAAACACATTTGTGTAG	0.403													T	55735664	C	T	55735664	3	4	256	1	0	0	0	0	1	0	0	0	10973	478	17	2	632	2	OR10AG1	11	55735664	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	55327509	55735664	79270852	26	17948											
DDI1	414301	broad.mit.edu	37	chr11	103908618	103908618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatcggcaccactggcacGcagacttattttcttcctga	8	12	8	13	2	2	2	1	1	1	1	4	2	3	2	2	2	0	3	2	2	1	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr11:103908618G>A	uc001phr.2	+	0	1311	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	PDGFD_uc001php.3_Intron|PDGFD_uc001phq.3_Intron	NM_001001711	NP_001001711	Q8WTU0	DDI1_HUMAN	Homo sapiens DNA-damage inducible 1 homolog 1 (S. cerevisiae) (DDI1), mRNA.	356					proteolysis		aspartic-type endopeptidase activity	p.T356T(3)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CCACTGGCACGCAGACTTATT	0.463													A	103908618	G	A	103908618	2	1	256	1	0	0	0	0	0	0	0	1	4362	1074	38	1		1	DDI1	11	103908618	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	48172954	103908618	31097898	27	17949											
MMP19	4327	broad.mit.edu	37	chr12	56230872	56230872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagtggtatccaaggttatgCccgtacctgagggagtggta	9	10	15	7	1	0	1	0	1	0	0	1	3	1	2	3	4	2	4	3	4	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:56230872C>T	uc001sib.3	-	8	1596	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	MMP19_uc001sia.3_Missense_Mutation_p.G206D|MMP19_uc001sid.3_Non-coding_Transcript|MMP19_uc010spw.2_3'UTR	NM_002429	NP_002420	Q99542	MMP19_HUMAN	Homo sapiens matrix metallopeptidase 19 (MMP19), transcript variant 1, mRNA.	492					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						CAAGGTTATGCCCGTACCTGA	0.507													T	56230872	C	T	56230872	3	4	256	1	0	0	0	0	1	0	0	0	9732	739	26	2	55	2	MMP19	12	56230872	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		56230872	77621023	28	17950											
PLXNC1	10154	broad.mit.edu	37	chr12	94654582	94654582	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcgaaaaactcctcacaaActggatgtccgtctgccttt	10	11	7	13	3	2	0	1	0	1	0	5	2	4	1	3	1	3	0	3	1	3	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr12:94654582A>T	uc001tdc.3	+	19	3665	c.3416A>T	c.(3415-3417)aAc>aTc	p.N1139I	PLXNC1_uc010sut.2_Missense_Mutation_p.N186I|PLXNC1_uc009zsv.3_5'Flank	NM_005761	NP_005752	O60486	PLXC1_HUMAN	Homo sapiens plexin C1 (PLXNC1), transcript variant 1, mRNA.	1139					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTCCTCACAAACTGGATGTCC	0.498													T	94654582	A	T	94654582	3	4	256	1	0	0	0	0	1	0	0	0	12203	43	2	5	3494	5	PLXNC1	12	94654582	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	38423710	94654582	39197313	29	17951											
COL4A2	1284	broad.mit.edu	37	chr13	111084708	111084708	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaccaaaaggacagcaaGtaagttggttttggggggtg	11	9	16	5	0	0	0	0	0	0	0	0	2	0	2	1	6	1	4	1	6	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr13:111084708G>A	uc001vqx.3	+	11	973	c.684_splice	c.e11+1	p.Q228_splice		NM_001846	NP_001837	P08572	CO4A2_HUMAN	Homo sapiens collagen, type IV, alpha 2 (COL4A2), mRNA.	228	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGACAGCAAGTAAGTTGGTT	0.438													A	111084708	G	A	111084708	5	1	256	1	0	0	0	0	0	0	1	0	3721	1043	36	2	723	2	COL4A2	13	111084708	Splice_Site	SNP	G	TCGA-74-6584-01A-11D-1845-08		111084708	4085170	30	17952											
PTGR2	145482	broad.mit.edu	37	chr14	74346839	74346839	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttatcctcccccgctatccCctgctatagaggcaatccag	8	10	6	17	1	0	1	0	0	0	1	4	1	4	1	6	1	1	3	6	1	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr14:74346839C>G	uc001xow.3	+	6	971	c.811C>G	c.(811-813)Cct>Gct	p.P271A	PTGR2_uc010tue.2_Missense_Mutation_p.P271A|PTGR2_uc001xox.3_Missense_Mutation_p.P271A|ZNF410_uc001xoy.2_Non-coding_Transcript	NM_001146154	NP_689657	Q8N8N7	PTGR2_HUMAN	Homo sapiens prostaglandin reductase 2 (PTGR2), transcript variant 2, mRNA.	271					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						CCCGCTATCCCCTGCTATAGA	0.413													G	74346839	C	G	74346839	3	3	256	1	0	0	0	0	1	0	0	0	12840	623	22	4	833	4	PTGR2	14	74346839	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		74346839	33002701	31	17953											
MFAP1	4236	broad.mit.edu	37	chr15	44106722	44106722	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaatgaagactggcttaagGcgaggctccatctcatcttc	10	10	10	11	2	2	2	1	1	2	1	5	4	3	2	1	3	0	2	1	3	3	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr15:44106722G>T	uc001zth.1	-	3	778	c.594C>A	c.(592-594)cgC>cgA	p.R198R		NM_005926	NP_005917	P55081	MFAP1_HUMAN	Homo sapiens microfibrillar-associated protein 1 (MFAP1), mRNA.	198						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CTGGCTTAAGGCGAGGCTCCA	0.448													T	44106722	G	T	44106722	2	4	256	1	0	0	0	0	0	0	0	1	9588	1190	42	4		4	MFAP1	15	44106722	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		44106722	58424670	32	17954											
VWA3A	146177	broad.mit.edu	37	chr16	22149825	22149825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcccaccgtccccctggggGccagaatggtttgactcccc	5	7	12	17	1	0	2	0	1	0	1	2	2	2	2	7	4	0	1	7	4	1	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:22149825G>A	uc010vbq.2	+	21	2380	c.2284G>A	c.(2284-2286)Gcc>Acc	p.A762T	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.A770T	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	762						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CCCCCTGGGGGCCAGAATGGT	0.537													A	22149825	G	A	22149825	3	1	256	1	0	0	0	0	1	0	0	0	17342	1203	42	2	2370	2	VWA3A	16	22149825	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08		22149825	68204928	33	17955											
STX1B	112755	broad.mit.edu	37	chr16	31004532	31004532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtccacagaatgttccacGttgtactcgatgcggtcaat	10	12	9	10	3	1	1	1	0	0	1	4	2	3	1	2	1	2	3	2	1	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:31004532G>A	uc010cad.2	-	8	817	c.705C>T	c.(703-705)aaC>aaT	p.N235N	STX1B_uc010vfd.2_Silent_p.N235N	NM_052874	NP_443106	P61266	STX1B_HUMAN	Homo sapiens syntaxin 1B (STX1B), mRNA.	235	t-SNARE coiled-coil homology.				intracellular protein transport|neurotransmitter transport|synaptic transmission	integral to plasma membrane	extracellular-glutamate-gated ion channel activity|SNAP receptor activity			breast(2)|endometrium(1)|large_intestine(5)|lung(5)	13						AATGTTCCACGTTGTACTCGA	0.602													A	31004532	G	A	31004532	2	1	256	1	0	0	0	0	0	0	0	1	15440	1136	40	1		1	STX1B	16	31004532	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	8854707	31004532	59350221	34	17956											
FAM92B	339145	broad.mit.edu	37	chr16	85132864	85132864	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggctgccccttaaccAcccactcacagagactaaac	11	6	8	16	0	1	1	1	0	0	1	1	2	1	1	4	2	3	2	4	2	3	2			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr16:85132864A>C	uc021tma.1	-	8	998	c.842T>G	c.(841-843)gTg>gGg	p.V281G	FAM92B_uc021tlz.1_Missense_Mutation_p.V279G	NM_198491	NP_940893	Q6ZTR7	FA92B_HUMAN	Homo sapiens family with sequence similarity 92, member B (FAM92B), mRNA.	281										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	16						CCCCTTAACCACCCACTCACA	0.532													C	85132864	A	C	85132864	3	2	256	1	0	0	0	0	1	0	0	0	5702	159	6	5	76	5	FAM92B	16	85132864	Missense_Mutation	SNP	A	TCGA-74-6584-01A-11D-1845-08	54128332	85132864	5221889	35	17957											
FOXN1	8456	broad.mit.edu	37	chr17	26864216	26864216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcatccccgacatcatcttCgatgccaccaccccagccac	9	7	4	21	2	3	0	2	0	1	0	5	2	4	0	7	0	2	0	7	0	0	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr17:26864216C>T	uc010crm.3	+	8	1907	c.1709C>T	c.(1708-1710)tCg>tTg	p.S570L	FOXN1_uc002hbj.3_Missense_Mutation_p.S570L	NM_003593	NP_003584	O15353	FOXN1_HUMAN	Homo sapiens forkhead box N1 (FOXN1), mRNA.	570					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					ACATCATCTTCGATGCCACCA	0.612													T	26864216	C	T	26864216	3	4	256	1	0	0	0	0	1	0	0	0	6070	893	31	1	1739	1	FOXN1	17	26864216	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		26864216	54330994	36	17958											
THOC1	9984	broad.mit.edu	37	chr18	225100	225100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacatacctctaccatctTtgaaaatctttctccatcgg	12	13	3	13	1	4	1	0	1	4	0	6	1	4	1	3	1	3	0	3	1	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr18:225100T>C	uc002kkj.4	-	13	1166	c.1126A>G	c.(1126-1128)Aag>Gag	p.K376E	THOC1_uc002kkl.2_3'UTR|THOC1_uc002kkh.4_5'UTR	NM_005131	NP_005122	Q96FV9	THOC1_HUMAN	Homo sapiens THO complex 1 (THOC1), mRNA.	376					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTACCATCTTTGAAAATCTT	0.363													C	225100	T	C	225100	3	2	256	1	0	0	0	0	1	0	0	0	15964	1850	64	3	879	3	THOC1	18	225100	Missense_Mutation	SNP	T	TCGA-74-6584-01A-11D-1845-08		225100	77852148	37	17959											
CEACAM7	1087	broad.mit.edu	37	chr19	42187745	42187745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagggtgactgggtcactgCggctggcacccactgggttc	5	9	15	12	1	2	1	2	1	0	0	3	1	2	1	1	5	1	3	1	5	0	1			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:42187745C>T	uc002ori.1	-	2	679	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CEACAM7_uc010ehx.2_Missense_Mutation_p.R226H|CEACAM7_uc010ehy.1_Intron	NM_006890	NP_008821	Q14002	CEAM7_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 7 (CEACAM7), mRNA.	226	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TGGGTCACTGCGGCTGGCACC	0.547													T	42187745	C	T	42187745	3	4	256	1	0	0	0	0	1	0	0	0	3227	768	27	1	128	1	CEACAM7	19	42187745	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08		42187745	16941238	38	17960											
NLRP12	91662	broad.mit.edu	37	chr19	54313743	54313743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggctcgttgtccctcacGtaattgaagacttggcccgc	8	10	11	12	3	1	3	1	1	0	2	3	3	2	3	2	2	0	3	2	2	2	4	rs146245368	byFrequency	TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr19:54313743G>A	uc002qcj.4	-	2	1390	c.1170C>T	c.(1168-1170)taC>taT	p.Y390Y	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Silent_p.Y390Y|NLRP12_uc002qci.4_Silent_p.Y390Y|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Silent_p.Y390Y	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	390	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TGTCCCTCACGTAATTGAAGA	0.567													A	54313743	G	A	54313743	2	1	256	1	0	0	0	0	0	0	0	1	10550	1140	40	1		1	NLRP12	19	54313743	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08	12125998	54313743	4815240	39	17961											
FASTKD5	60493	broad.mit.edu	37	chr20	3128199	3128199	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttaaggaggtcaaacttAgttctctcctgagctaacct	10	13	7	11	0	2	1	1	1	1	0	5	2	4	2	3	2	3	2	3	2	4	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chr20:3128199A>C	uc021vzx.1	-	0	1518	c.1518T>G	c.(1516-1518)acT>acG	p.T506T	LOC100134015_uc002whv.1_Intron|UBOX5_uc002whw.3_Intron|UBOX5_uc002whx.3_Intron|UBOX5_uc002why.1_Intron|FASTKD5_uc002whz.3_Silent_p.T506T	NM_021826	NP_068598	Q7L8L6	FAKD5_HUMAN	Homo sapiens FAST kinase domains 5 (FASTKD5), mRNA.	506					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						GGTCAAACTTAGTTCTCTCCT	0.468													C	3128199	A	C	3128199	2	2	256	1	0	0	0	0	0	0	0	1	5737	407	15	5		5	FASTKD5	20	3128199	Silent	SNP	A	TCGA-74-6584-01A-11D-1845-08		3128199	59897321	40	17962											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999269	27999269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattttctgtgctggcatcGttcaggaaaccaccatccct	8	13	8	12	1	2	1	1	1	1	0	4	2	3	2	3	2	2	3	3	2	1	3			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:27999269G>A	uc004dbx.1	-	0	298	c.183C>T	c.(181-183)aaC>aaT	p.N61N		NM_001017930	NP_001017930	A6NGE4	DC8L1_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 8-like 1 (DCAF8L1), mRNA.	61								p.L60M(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TGCTGGCATCGTTCAGGAAAC	0.507													A	27999269	G	A	27999269	2	1	256	1	0	0	0	0	0	0	0	1	4311	1136	40	1		1	DCAF8L1	23	27999269	Silent	SNP	G	TCGA-74-6584-01A-11D-1845-08		27999269	127271291	41	17963											
SSX5	6758	broad.mit.edu	37	chrX	48053576	48053576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactcaccctgattcccaCggttagggtcattatcaaaa	11	12	6	12	1	4	1	3	1	1	0	5	1	5	1	2	2	1	1	2	2	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:48053576C>T	uc004diz.1	-	4	445	c.392G>A	c.(391-393)cGt>cAt	p.R131H	SSX5_uc004dja.1_Missense_Mutation_p.R90H	NM_021015	NP_066295	O60225	SSX5_HUMAN	Homo sapiens synovial sarcoma, X breakpoint 5 (SSX5), transcript variant 1, mRNA.	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						CTGATTCCCACGGTTAGGGTC	0.498													T	48053576	C	T	48053576	3	4	256	1	0	0	0	0	1	0	0	0	15304	536	19	1	313	1	SSX5	23	48053576	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	20054307	48053576	107216984	42	17964											
MUM1L1	139221	broad.mit.edu	37	chrX	105450536	105450536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaatctttctctattagatGatgatgaggaagacgaagaa	15	13	9	4	1	2	6	0	3	2	3	3	8	2	7	0	1	0	0	0	1	6	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:105450536G>A	uc022cca.1	+	0	1111	c.1111G>A	c.(1111-1113)Gat>Aat	p.D371N	MUM1L1_uc004emg.2_Missense_Mutation_p.D371N|MUM1L1_uc004emf.2_Missense_Mutation_p.D371N	NM_001171020	NP_001164491	Q5H9M0	MUML1_HUMAN	Homo sapiens melanoma associated antigen (mutated) 1-like 1 (MUM1L1), transcript variant 1, mRNA.	371										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTATTAGATGATGATGAGGA	0.368													A	105450536	G	A	105450536	3	1	256	1	0	0	0	0	1	0	0	0	10062	1290	45	2	1113	2	MUM1L1	23	105450536	Missense_Mutation	SNP	G	TCGA-74-6584-01A-11D-1845-08	57396960	105450536	49820024	43	17965											
LAMP2	3920	broad.mit.edu	37	chrX	119589247	119589247	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaaatgttgtgttatcaCcagtgttgtaggaaaatgag	13	12	12	4	0	1	1	1	1	0	0	1	3	1	3	1	2	0	4	1	2	5	4			TCGA-74-6584-01A-11D-1845-08	TCGA-74-6584-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cedd2d49-371b-4b12-8aac-6a9bd38f2ccb	36de64d8-7be2-44eb-bbfc-d3c0c885ce94	g.chrX:119589247C>A	uc004ess.4	-	2	542	c.362G>T	c.(361-363)gGt>gTt	p.G121V	LAMP2_uc004est.4_Missense_Mutation_p.G121V|LAMP2_uc011mtz.2_Intron|LAMP2_uc011mua.1_Missense_Mutation_p.G74V|LAMP2_uc010nqp.1_Missense_Mutation_p.G121V	NM_001122606	NP_001116078	P13473	LAMP2_HUMAN	Homo sapiens lysosomal-associated membrane protein 2 (LAMP2), transcript variant C, mRNA.	121	First lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						TGTGTTATCACCAGTGTTGTA	0.363													A	119589247	C	A	119589247	3	1	256	1	0	0	0	0	1	0	0	0	8677	507	18	4	1189	4	LAMP2	23	119589247	Missense_Mutation	SNP	C	TCGA-74-6584-01A-11D-1845-08	14138711	119589247	35681313	44	17966											
CASZ1	54897	broad.mit.edu	37	chr1	10699777	10699777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagtcggcgaagtggCagctgagtgaggccttgaag	9	6	19	7	2	0	3	0	3	0	0	1	4	0	3	1	5	1	3	1	5	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:10699777C>T	uc001aro.3	-	20	4822	c.4502G>A	c.(4501-4503)tGc>tAc	p.C1501Y		NM_001079843	NP_001073312	Q86V15	CASZ1_HUMAN	Homo sapiens castor zinc finger 1 (CASZ1), transcript variant 1, mRNA.	1501				C -> R (in Ref. 2; ABB29845).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGCGAAGTGGCAGCTGAGTGA	0.657													T	10699777	C	T	10699777	3	4	257	1	0	0	0	0	1	0	0	0	2711	710	25	2	781	2	CASZ1	1	10699777	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		10699777	238550844	1	17967											
NCDN	23154	broad.mit.edu	37	chr1	36026428	36026431	+	Frame_Shift_Del	DEL	AGTG	AGTG	-																															tggccgtgttgcggggcctcAgtgaggatttccagaaagct																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:36026428_36026431delAGTG	uc001bza.3	+	3	803_806	c.676_679delAGTG	c.(676-681)agtgagfs	p.S226fs	KIAA0319L_uc010ohw.2_5'Flank|NCDN_uc001bzb.3_Frame_Shift_Del_p.S226fs|NCDN_uc001bzc.3_Frame_Shift_Del_p.S209fs	NM_001014839	NP_001014841	Q9UBB6	NCDN_HUMAN	Homo sapiens neurochondrin (NCDN), transcript variant 1, mRNA.	226					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GCGGGGCCTCAGTGAGGATTTCCA	0.642													-	36026431	AGTG	-	36026428	7	5	257	1	0	1	0	1	0	0	0	0	10290	188	7	0	686	0	NCDN	1	36026428	Frame_Shift_Del	DEL	AGTG	TCGA-76-4925-01A-01D-1486-08	25326651	36026428	213224193	2	17968											
TOE1	114034	broad.mit.edu	37	chr1	45807217	45807217	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttccctgggcctcgcCtgcttcaagcggcagccaga	6	9	10	16	2	1	1	1	0	0	1	4	1	3	1	5	2	3	2	5	2	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:45807217C>G	uc009vxq.3	+	3	892	c.309C>G	c.(307-309)gcC>gcG	p.A103A	MUTYH_uc001cnf.3_5'Flank|MUTYH_uc009vxo.3_5'Flank|MUTYH_uc001cng.3_5'Flank|MUTYH_uc001cnj.3_5'Flank|MUTYH_uc001cni.3_5'Flank|MUTYH_uc001cnh.3_5'Flank|MUTYH_uc001cnl.3_5'Flank|MUTYH_uc009vxp.3_5'Flank|MUTYH_uc001cnn.3_5'Flank|MUTYH_uc001cnm.3_5'Flank|MUTYH_uc001cno.3_5'Flank|MUTYH_uc010oll.2_5'Flank|TOE1_uc010olm.2_Intron|TOE1_uc010oln.1_Silent_p.A109A|TOE1_uc001cnr.4_Non-coding_Transcript	NM_025077	NP_079353	Q96GM8	TOE1_HUMAN	Homo sapiens target of EGR1, member 1 (nuclear) (TOE1), mRNA.	103						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					TGGGCCTCGCCTGCTTCAAGC	0.562													G	45807217	C	G	45807217	2	3	257	1	0	0	0	0	0	0	0	1	16449	668	24	4		4	TOE1	1	45807217	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9780789	45807217	203443404	3	17969											
MCOLN3	55283	broad.mit.edu	37	chr1	85491656	85491656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatttttagaattgatccaAtgattgtcaatatgtcacta	13	16	5	7	0	2	3	2	2	0	1	3	3	3	3	2	0	0	0	2	0	6	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:85491656A>G	uc001dkp.3	-	8	1208	c.1061T>C	c.(1060-1062)aTt>aCt	p.I354T	MCOLN3_uc001dko.3_5'Flank|MCOLN3_uc001dkq.3_Missense_Mutation_p.I298T|MCOLN3_uc001dkr.3_3'UTR|MCOLN3_uc001dks.4_Missense_Mutation_p.I199T	NM_018298	NP_060768	Q8TDD5	MCLN3_HUMAN	Homo sapiens mucolipin 3 (MCOLN3), transcript variant 1, mRNA.	354						integral to membrane	ion channel activity			endometrium(6)|kidney(3)|large_intestine(9)|lung(12)|prostate(3)|skin(1)	34				all cancers(265;0.00957)|Epithelial(280;0.0254)		AATTGATCCAATGATTGTCAA	0.303													G	85491656	A	G	85491656	3	3	257	1	0	0	0	0	1	0	0	0	9472	101	4	3	620	3	MCOLN3	1	85491656	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	39684439	85491656	163758965	4	17970											
HFM1	164045	broad.mit.edu	37	chr1	91739356	91739356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattataggcaattcagataTgtttaaatattctgaccttt	13	17	5	6	0	2	2	1	1	1	1	2	2	2	2	1	1	0	2	1	1	7	9			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:91739356T>C	uc001doa.4	-	33	3784	c.3685A>G	c.(3685-3687)Ata>Gta	p.I1229V	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Missense_Mutation_p.I908V|HFM1_uc001dob.4_Missense_Mutation_p.I417V|HFM1_uc010osv.1_Missense_Mutation_p.I913V	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1229							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		AATTCAGATATGTTTAAATAT	0.284													C	91739356	T	C	91739356	3	2	257	1	0	0	0	0	1	0	0	0	7138	1464	51	3	646	3	HFM1	1	91739356	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	6247700	91739356	157511265	5	17971											
DPYD	1806	broad.mit.edu	37	chr1	97847978	97847978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcaagttccgtccagtCatttttattgtaactgcaca	9	15	7	10	1	1	0	1	0	0	0	3	0	3	0	2	1	2	4	2	1	3	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:97847978C>A	uc001drv.3	-	14	2082	c.1945G>T	c.(1945-1947)Gac>Tac	p.D649Y		NM_000110	NP_000101	Q12882	DPYD_HUMAN	Homo sapiens dihydropyrimidine dehydrogenase (DPYD), transcript variant 1, mRNA.	649					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TCCGTCCAGTCATTTTTATTG	0.279													A	97847978	C	A	97847978	3	1	257	1	0	0	0	0	1	0	0	0	4784	826	29	4	1168	4	DPYD	1	97847978	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	6108622	97847978	151402643	6	17972											
RORC	6097	broad.mit.edu	37	chr1	151787517	151787517	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaaaacgaagtccacatCggtcaggggtcagctggctg	10	7	12	12	2	3	0	3	0	0	0	5	1	4	0	2	4	2	2	2	4	3	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:151787517C>T	uc001ezh.3	-	4	791	c.683G>A	c.(682-684)cGa>cAa	p.R228Q	RORC_uc001ezg.3_Missense_Mutation_p.R207Q|RORC_uc010pdo.2_Missense_Mutation_p.R282Q|RORC_uc010pdp.2_Missense_Mutation_p.R228Q	NM_005060	NP_005051	P51449	RORG_HUMAN	Homo sapiens RAR-related orphan receptor C (RORC), transcript variant 1, mRNA.	228	Hinge (Potential).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAGTCCACATCGGTCAGGGGT	0.612													T	151787517	C	T	151787517	3	4	257	1	0	0	0	0	1	0	0	0	13621	884	31	1	901	1	RORC	1	151787517	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	53939539	151787517	97463104	7	17973											
NTRK1	4914	broad.mit.edu	37	chr1	156849919	156849919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatcttcacctacggcaaGcagccctggtaccagctctc	9	8	9	15	1	3	1	1	0	2	1	4	2	3	1	3	2	5	4	3	2	3	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:156849919G>A	uc001fqh.1	+	15	2231	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	NTRK1_uc001fqf.1_Silent_p.K689K|NTRK1_uc009wsi.1_Silent_p.K424K|NTRK1_uc001fqi.1_Silent_p.K719K|NTRK1_uc009wsk.1_Silent_p.K722K	NM_002529	NP_002520	P04629	NTRK1_HUMAN	Homo sapiens neurotrophic tyrosine kinase, receptor, type 1 (NTRK1), transcript variant 2, mRNA.	725	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CCTACGGCAAGCAGCCCTGGT	0.632			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			A	156849919	G	A	156849919	2	1	257	1	0	0	0	0	0	0	0	1	10782	962	34	2		2	NTRK1	1	156849919	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	5062402	156849919	92400702	8	17974											
DEDD	9191	broad.mit.edu	37	chr1	161094314	161094314	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagctgcaatccccaccGtactgaaagggcagggaaag	13	4	12	12	1	0	1	0	1	0	0	1	2	1	2	3	2	4	5	3	2	4	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr1:161094314G>A	uc009wty.3	-	1					NIT1_uc001fxw.3_3'UTR|DEDD_uc001fxz.3_5'UTR|DEDD_uc001fya.3_5'UTR|DEDD_uc001fyb.3_5'UTR|DEDD_uc010pkb.2_5'UTR	NM_001039712	NP_127491	O75618	DEDD_HUMAN	Homo sapiens death effector domain containing (DEDD), transcript variant 4, mRNA.						apoptosis|induction of apoptosis via death domain receptors|negative regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			cervix(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|skin(1)	10	all_cancers(52;3.39e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			AATCCCCACCGTACTGAAAGG	0.562													A	161094314	G	A	161094314	1	1	257	1	0	0	0	0	0	0	0	0	4418	1160	40	1		1	DEDD	1	161094314	Translation_Start_Site	SNP	G	TCGA-76-4925-01A-01D-1486-08	4244395	161094314	88156307	9	17975											
SUCLG1	8802	broad.mit.edu	37	chr2	84676841	84676841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagagatgttgccgagaagCtgtgtaggaacaatgccgaa	14	8	13	6	2	0	2	0	0	0	2	0	6	0	3	2	1	4	3	2	1	6	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:84676841C>T	uc002son.3	-	1	326	c.133G>A	c.(133-135)Gct>Act	p.A45T	SUCLG1_uc010ysk.1_Missense_Mutation_p.A32T	NM_003849	NP_003840	P53597	SUCA_HUMAN	Homo sapiens succinate-CoA ligase, alpha subunit (SUCLG1), nuclear gene encoding mitochondrial protein, mRNA.	45					tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	TGCCGAGAAGCTGTGTAGGAA	0.299													T	84676841	C	T	84676841	3	4	257	1	0	0	0	0	1	0	0	0	15460	797	28	2	939	2	SUCLG1	2	84676841	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		84676841	158522532	10	17976											
C2orf55	343990	broad.mit.edu	37	chr2	99412664	99412664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctgcttccggtccacagCgggcttcacaggggttatca	6	9	11	15	2	2	0	2	0	0	0	4	0	4	0	4	4	2	3	4	4	1	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:99412664C>T	uc002szf.1	-	8	2962	c.2668G>A	c.(2668-2670)Gct>Act	p.A890T		NM_207362	NP_997245	Q6NV74	CB055_HUMAN	Homo sapiens chromosome 2 open reading frame 55 (C2orf55), mRNA.	890										NS(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28						CGGTCCACAGCGGGCTTCACA	0.498													T	99412664	C	T	99412664	3	4	257	1	0	0	0	0	1	0	0	0	2197	768	27	1	228	1	C2orf55	2	99412664	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	14735823	99412664	143786709	11	17977											
PCDP1	200373	broad.mit.edu	37	chr2	120362804	120362805	+	Frame_Shift_Ins	INS	-	-	CACT																															aacgagacagatgaaggaggINScactctttgaacagaaagtc																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:120362804_120362805insCACT	uc002tmb.3	+	11	1326_1327	c.214_215insCACT	c.(214-216)gcafs	p.A72fs	PCDP1_uc010yyq.2_Frame_Shift_Ins_p.A202fs	NM_001029996	NP_001025167	Q4G0U5	PCDP1_HUMAN	Homo sapiens primary ciliary dyskinesia protein 1 (PCDP1), mRNA.	358						cilium	calmodulin binding					Colorectal(110;0.196)					GATGAAGGAGGCACTCTTTGAA	0.386													CACT	120362805	-	CACT	120362804	7	5	257	1	0	1	1	0	0	0	0	0	11648	1203	42	0	224	0	PCDP1	2	120362804	Frame_Shift_Ins	INS	-	TCGA-76-4925-01A-01D-1486-08	20950140	120362804	122836569	12	17978											
THSD7B	80731	broad.mit.edu	37	chr2	137928455	137928455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatctgtttccctgatcatgGaaaatgtggcctgggacatc	9	12	11	9	0	2	1	1	1	1	0	4	4	3	3	2	3	0	1	2	3	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr2:137928455G>T	uc002tva.1	+	5	1577	c.1577G>T	c.(1576-1578)gGa>gTa	p.G526V	THSD7B_uc010zbj.1_Intron|THSD7B_uc002tvb.3_Missense_Mutation_p.G416V	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CCTGATCATGGAAAATGTGGC	0.522													T	137928455	G	T	137928455	3	4	257	1	0	0	0	0	1	0	0	0	15980	1174	41	4	1599	4	THSD7B	2	137928455	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	17565651	137928455	105270918	13	17979											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527058	64527058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagtgtcacgtactctttGgggtggtcagagtgcatccc	7	11	12	11	1	3	1	2	0	1	1	4	1	4	1	2	3	2	2	2	3	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:64527058G>A	uc003dmg.3	-	34	5357	c.5325C>T	c.(5323-5325)ccC>ccT	p.P1775P	ADAMTS9_uc011bfo.2_Silent_p.P1747P|ADAMTS9_uc011bfp.1_Silent_p.P686P	NM_182920	NP_891550	Q9P2N4	ATS9_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 9 (ADAMTS9), mRNA.	1775	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGTACTCTTTGGGGTGGTCAG	0.502													A	64527058	G	A	64527058	2	1	257	1	0	0	0	0	0	0	0	1	273	1335	47	2		2	ADAMTS9	3	64527058	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08		64527058	133495372	14	17980											
CNTN3	5067	broad.mit.edu	37	chr3	74334529	74334529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtaagcccggacagcCgtgtaataggccaggttgct	8	10	13	10	2	0	0	0	0	0	0	0	1	0	1	3	3	3	5	3	3	3	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:74334529C>T	uc003dpm.1	-	18	2711	c.2631G>A	c.(2629-2631)acG>acA	p.T877T		NM_020872	NP_065923	Q9P232	CNTN3_HUMAN	Homo sapiens contactin 3 (plasmacytoma associated) (CNTN3), mRNA.	877	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCCGGACAGCCGTGTAATAGG	0.498													T	74334529	C	T	74334529	2	4	257	1	0	0	0	0	0	0	0	1	3673	639	23	1		1	CNTN3	3	74334529	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9807471	74334529	123687901	15	17981											
POPDC2	64091	broad.mit.edu	37	chr3	119373376	119373376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccccctcctcagaaggCtgtagtgattcccactcagg	10	8	8	15	0	2	2	2	1	0	1	4	2	4	2	4	2	1	2	4	2	3	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:119373376C>T	uc003ecx.1	-	1	710	c.576G>A	c.(574-576)caG>caA	p.Q192Q	POPDC2_uc010hqw.1_Silent_p.Q192Q|POPDC2_uc003ecy.1_Silent_p.Q10Q	NM_022135	NP_071418	Q9HBU9	POPD2_HUMAN	Homo sapiens popeye domain containing 2 (POPDC2), mRNA.	192						integral to membrane				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	13				GBM - Glioblastoma multiforme(114;0.242)		CCTCAGAAGGCTGTAGTGATT	0.562													T	119373376	C	T	119373376	2	4	257	1	0	0	0	0	0	0	0	1	12332	796	28	2		2	POPDC2	3	119373376	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	45038847	119373376	78649054	16	17982											
ZIC1	7545	broad.mit.edu	37	chr3	147128086	147128086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcttcggccggccagacgGccttcacgtcgcaggcgcca	5	6	14	16	6	1	1	1	0	0	1	3	1	1	1	4	5	0	2	4	5	0	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:147128086G>A	uc003ewe.3	+	0	906	c.187G>A	c.(187-189)Gcc>Acc	p.A63T		NM_003412	NP_003403	Q15915	ZIC1_HUMAN	Homo sapiens Zic family member 1 (ZIC1), mRNA.	63					behavior|brain development|cell differentiation|inner ear morphogenesis|pattern specification process|positive regulation of protein import into nucleus|positive regulation of transcription, DNA-dependent|regulation of smoothened signaling pathway	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGCCAGACGGCCTTCACGTC	0.687													A	147128086	G	A	147128086	3	1	257	1	0	0	0	0	1	0	0	0	17779	1203	42	2	189	2	ZIC1	3	147128086	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	27754710	147128086	50894344	17	17983											
MED12L	116931	broad.mit.edu	37	chr3	150906259	150906259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttttagatacacaggcccCctctttgtgtaagtagagaa	11	13	9	8	0	1	2	0	0	1	2	1	3	1	2	2	1	1	3	2	1	5	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr3:150906259C>T	uc003eyp.3	+	11	1874	c.1745C>T	c.(1744-1746)cCc>cTc	p.P582L	MED12L_uc011bnz.2_Missense_Mutation_p.P442L|MED12L_uc003eyn.3_Missense_Mutation_p.P582L|MED12L_uc003eyo.3_Missense_Mutation_p.P582L	NM_053002	NP_443728	Q86YW9	MD12L_HUMAN	Homo sapiens mediator complex subunit 12-like (MED12L), mRNA.	582					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ACACAGGCCCCCTCTTTGTGT	0.343													T	150906259	C	T	150906259	3	4	257	1	0	0	0	0	1	0	0	0	9504	623	22	2	1791	2	MED12L	3	150906259	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	3778173	150906259	47116171	18	17984											
MTMR12	54545	broad.mit.edu	37	chr5	32255876	32255876	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaagtatgctggcaatcTagaagaaagaaatgtcatca	19	8	8	6	0	3	3	2	0	1	3	3	3	3	3	0	1	2	3	0	1	8	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:32255876T>C	uc003jhq.3	-	8	884	c.714_splice	c.e8-1	p.R238_splice	MTMR12_uc010iuk.3_Splice_Site_p.R238_splice|MTMR12_uc010iul.3_Splice_Site_p.R238_splice	NM_001040446	NP_001035536	Q9C0I1	MTMRC_HUMAN	Homo sapiens myotubularin related protein 12 (MTMR12), mRNA.	238	Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GCTGGCAATCTAGAAGAAAGA	0.418													C	32255876	T	C	32255876	5	2	257	1	0	0	0	0	0	0	1	0	10017	1536	53	3	1567	3	MTMR12	5	32255876	Splice_Site	SNP	T	TCGA-76-4925-01A-01D-1486-08		32255876	148659384	19	17985											
SLCO6A1	133482	broad.mit.edu	37	chr5	101815988	101815988	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctacaaaccatattactTtttttctgtctccatagaat	13	16	3	9	0	2	1	0	0	2	1	3	1	2	1	2	0	4	1	2	0	7	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:101815988T>A	uc003knn.3	-	1	681	c.509A>T	c.(508-510)aAa>aTa	p.K170I	SLCO6A1_uc003kno.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knp.3_Missense_Mutation_p.K170I|SLCO6A1_uc003knq.3_Missense_Mutation_p.K170I	NM_173488	NP_775759	Q86UG4	SO6A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 6A1 (SLCO6A1), mRNA.	170						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCATATTACTTTTTTTCTGTC	0.333													A	101815988	T	A	101815988	3	1	257	1	0	0	0	0	1	0	0	0	14826	1841	64	5	1698	5	SLCO6A1	5	101815988	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	69560112	101815988	79099272	20	17986											
TRPC7	57113	broad.mit.edu	37	chr5	135692995	135692995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacatgtaggcgggaccCcggatggcctggcgacggcc	7	6	16	12	4	0	1	0	1	0	0	0	4	0	3	4	6	1	1	4	6	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:135692995C>T	uc003lbn.2	-	1	303	c.81G>A	c.(79-81)cgG>cgA	p.R27R	TRPC7_uc010jef.2_Silent_p.R18R|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Silent_p.R27R|TRPC7_uc010jei.2_Silent_p.R27R	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	27					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R27Q(1)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGCGGGACCCCGGATGGCCT	0.612													T	135692995	C	T	135692995	2	4	257	1	0	0	0	0	0	0	0	1	16685	610	22	2		2	TRPC7	5	135692995	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	33877007	135692995	45222265	21	17987											
PCDHAC2	56145	broad.mit.edu	37	chr5	140182972	140182972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgccgccaaccgaaggCgactgtgggccgggcaagcc	7	3	15	16	6	0	0	0	0	0	0	1	2	1	0	6	3	2	1	6	3	3	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr5:140182972C>T	uc003lhf.2	+	0	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc011czy.2_Intron|PCDHAC2_uc011czz.2_Silent_p.G730G	NM_018906	NP_061729	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 3 (PCDHA3), transcript variant 1, mRNA.	738					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCGAAGGCGACTGTGGGC	0.642													T	140182972	C	T	140182972	2	4	257	1	0	0	0	0	0	0	0	1	11609	755	27	1		1	PCDHAC2	5	140182972	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	4489977	140182972	40732288	22	17988											
ZFP57	346171	broad.mit.edu	37	chr6	29641071	29641071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctggtggcgtttgagctCagactggtcccggaagctct	5	12	13	11	2	3	2	1	1	2	1	4	3	4	3	1	4	2	3	1	4	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:29641071C>G	uc011dlw.2	-	3	968	c.817G>C	c.(817-819)Gag>Cag	p.E273Q		NM_001109809	NP_001103279	Q9NU63	ZFP57_HUMAN	Homo sapiens zinc finger protein 57 homolog (mouse) (ZFP57), mRNA.	189					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						CGTTTGAGCTCAGACTGGTCC	0.552													G	29641071	C	G	29641071	3	3	257	1	0	0	0	0	1	0	0	0	17752	835	29	4	797	4	ZFP57	6	29641071	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		29641071	141473996	23	17989											
STXBP5	134957	broad.mit.edu	37	chr6	147704054	147704054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcactagatgaaagaGggcagaaacttggcgatctg	12	7	15	7	1	1	4	0	1	1	3	1	5	1	4	0	4	1	3	0	4	3	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr6:147704054G>C	uc003qlz.3	+	26	3509	c.3334G>C	c.(3334-3336)Ggg>Cgg	p.G1112R	STXBP5_uc010khz.2_Missense_Mutation_p.G1076R|STXBP5_uc003qly.3_Missense_Mutation_p.G767R	NM_001127715	NP_001121187	Q5T5C0	STXB5_HUMAN	Homo sapiens syntaxin binding protein 5 (tomosyn) (STXBP5), transcript variant 2, mRNA.	1112	v-SNARE coiled-coil homology.				exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGATGAAAGAGGGCAGAAACT	0.483													C	147704054	G	C	147704054	3	2	257	1	0	0	0	0	1	0	0	0	15452	1000	35	4	3440	4	STXBP5	6	147704054	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	118062983	147704054	23411013	24	17990											
NDUFA4	4697	broad.mit.edu	37	chr7	10979661	10979661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctcggatgcttcttggcCtgaccgatgatctggcggag	6	10	14	11	4	2	2	0	2	2	0	3	5	2	4	2	4	1	2	2	4	0	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:10979661C>G	uc003srx.2	-	0	153	c.24G>C	c.(22-24)caG>caC	p.Q8H		NM_002489	NP_002480	O00483	NDUA4_HUMAN	Homo sapiens NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa (NDUFA4), nuclear gene encoding mitochondrial protein, mRNA.	8					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			large_intestine(2)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)	NADH(DB00157)	GCTTCTTGGCCTGACCGATGA	0.547													G	10979661	C	G	10979661	3	3	257	1	0	0	0	0	1	0	0	0	10342	680	24	4	237	4	NDUFA4	7	10979661	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		10979661	148159002	25	17991											
DNAH11	8701	broad.mit.edu	37	chr7	21611464	21611464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaatttgaaaagctggaaaGactggaatttggtggtacca	14	10	13	4	0	0	2	0	1	0	1	0	5	0	5	1	5	2	2	1	5	6	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:21611464G>A	uc003svc.3	+	7	1497	c.1466G>A	c.(1465-1467)aGa>aAa	p.R489K		NM_003777	NP_003768	Q96DT5	DYH11_HUMAN	Homo sapiens dynein, axonemal, heavy chain 11 (DNAH11), mRNA.	489	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAGCTGGAAAGACTGGAATTT	0.353									Kartagener syndrome				A	21611464	G	A	21611464	3	1	257	1	0	0	0	0	1	0	0	0	4638	942	33	2	1496	2	DNAH11	7	21611464	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	10631803	21611464	137527199	26	17992											
CHN2	1124	broad.mit.edu	37	chr7	29539565	29539565	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaagaggatcaagaaagtGtactgttgtgacctcacaac	14	9	9	9	0	3	3	3	1	0	2	3	4	3	4	1	1	2	2	1	1	5	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:29539565G>A	uc003szz.3	+	8	1259	c.822G>A	c.(820-822)gtG>gtA	p.V274V	CHN2_uc011jzs.2_Silent_p.V349V|CHN2_uc010kva.3_Silent_p.V44V|CHN2_uc010kvb.3_Intron|CHN2_uc010kvc.3_Silent_p.V239V|CHN2_uc011jzt.2_Silent_p.V287V|CHN2_uc010kvd.3_Silent_p.V130V|CHN2_uc011jzu.2_Silent_p.V259V|CHN2_uc010kvh.3_Intron|CHN2_uc010kvi.3_Silent_p.V138V|CHN2_uc010kve.3_Silent_p.V138V|CHN2_uc003taa.3_Silent_p.V138V|CHN2_uc010kvf.3_Intron|CHN2_uc010kvg.3_Silent_p.V138V|CHN2_uc010kvj.3_Silent_p.V93V|CHN2_uc010kvk.3_Intron|CHN2_uc010kvl.3_Non-coding_Transcript|CHN2_uc010kvm.3_Silent_p.V93V|CHN2_uc011jzv.2_Silent_p.V67V	NM_004067	NP_004058	P52757	CHIO_HUMAN	Homo sapiens chimerin (chimaerin) 2 (CHN2), transcript variant 2, mRNA.	274					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCAAGAAAGTGTACTGTTGTG	0.448													A	29539565	G	A	29539565	2	1	257	1	0	0	0	0	0	0	0	1	3393	1364	48	2		2	CHN2	7	29539565	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	7928101	29539565	129599098	27	17993											
ELN	2006	broad.mit.edu	37	chr7	73472022	73472022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccgccaaagccgcccaGtttggtaagtccccctcacc	8	6	9	18	2	1	0	1	0	0	0	2	0	2	0	7	1	2	3	7	1	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:73472022G>A	uc003tzw.3	+	21	1501	c.1410G>A	c.(1408-1410)caG>caA	p.Q470Q	ELN_uc003tzn.3_Silent_p.Q470Q|ELN_uc003tzy.3_Intron|ELN_uc003tzz.3_Intron|ELN_uc003tzo.3_Intron|ELN_uc003tzp.3_Intron|ELN_uc003tzq.3_Intron|ELN_uc003tzr.3_Intron|ELN_uc003tzs.3_Intron|ELN_uc003tzt.3_Silent_p.Q475Q|ELN_uc003tzu.3_Intron|ELN_uc003tzv.3_Intron|ELN_uc011kfe.2_Non-coding_Transcript|ELN_uc003tzx.3_Silent_p.Q460Q|ELN_uc011kff.2_Silent_p.Q470Q	NM_000501	NP_001075224	P15502	ELN_HUMAN	Homo sapiens elastin (ELN), transcript variant 1, mRNA.	499	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	AAGCCGCCCAGTTTGGTAAGT	0.612			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						A	73472022	G	A	73472022	2	1	257	1	0	0	0	0	0	0	0	1	5112	1020	36	2		2	ELN	7	73472022	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	43932457	73472022	85666641	28	17994											
GNAT3	346562	broad.mit.edu	37	chr7	80091548	80091548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagatatcttttttgttgagGaacaggacaatggaggttgt	12	14	12	3	0	1	2	0	1	1	1	1	5	1	5	0	4	1	2	0	4	4	6			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:80091548G>C	uc011kgu.2	-	6	801	c.801C>G	c.(799-801)ttC>ttG	p.F267L	CD36_uc003uhc.3_Intron	NM_001102386	NP_001095856	A8MTJ3	GNAT3_HUMAN	Homo sapiens guanine nucleotide binding protein, alpha transducing 3 (GNAT3), mRNA.	267					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						TTTTGTTGAGGAACAGGACAA	0.343													C	80091548	G	C	80091548	3	2	257	1	0	0	0	0	1	0	0	0	6569	1165	41	4	269	4	GNAT3	7	80091548	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	6619526	80091548	79047115	29	17995											
CALCR	799	broad.mit.edu	37	chr7	93091387	93091387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacttacaatgccttcctaTatttccaattcaaaggaaaa	15	14	3	9	0	1	0	1	0	0	0	3	1	3	1	3	1	3	0	3	1	9	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:93091387T>C	uc003umv.2	-	8	911	c.611A>G	c.(610-612)tAt>tGt	p.Y204C	CALCR_uc003umt.1_Intron|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Intron|CALCR_uc003umw.2_Intron	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	186					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	TGCCTTCCTATATTTCCAATT	0.284													C	93091387	T	C	93091387	3	2	257	1	0	0	0	0	1	0	0	0	2605	1406	49	3	947	3	CALCR	7	93091387	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	12999839	93091387	66047276	30	17996											
GRM8	2918	broad.mit.edu	37	chr7	126882860	126882860	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtggatctccattagcAcacttcacatccgaagcatc	11	10	8	12	1	2	0	1	0	1	0	5	2	3	1	2	2	2	2	2	2	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:126882860A>G	uc003vlr.2	-	0	710	c.399T>C	c.(397-399)tgT>tgC	p.C133C	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.C133C|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	133					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CTCCATTAGCACACTTCACAT	0.483										HNSCC(24;0.065)			G	126882860	A	G	126882860	2	3	257	1	0	0	0	0	0	0	0	1	6858	157	6	3		3	GRM8	7	126882860	Silent	SNP	A	TCGA-76-4925-01A-01D-1486-08	33791473	126882860	32255803	31	17997											
TSGA13	114960	broad.mit.edu	37	chr7	130357671	130357671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttttttctgaggcatgcGgggcagccagaggttctcag	6	13	13	9	1	2	2	1	1	2	1	3	2	2	2	1	4	2	3	1	4	0	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:130357671G>A	uc003vqi.3	-	5	890	c.433C>T	c.(433-435)Cgc>Tgc	p.R145C	TSGA13_uc003vqj.3_Missense_Mutation_p.R145C	NM_052933	NP_443165	Q96PP4	TSG13_HUMAN	Homo sapiens testis specific, 13 (TSGA13), mRNA.	145										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					TGAGGCATGCGGGGCAGCCAG	0.473													A	130357671	G	A	130357671	3	1	257	1	0	0	0	0	1	0	0	0	16720	1116	39	1	406	1	TSGA13	7	130357671	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	3474811	130357671	28780992	32	17998											
TRPV5	56302	broad.mit.edu	37	chr7	142625188	142625188	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggcatccatacctctcGtttatcagaggagaccacaa	11	10	7	13	1	2	2	1	0	1	2	4	3	3	2	4	2	1	2	4	2	3	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:142625188G>A	uc003wby.1	-	6	1168	c.904C>T	c.(904-906)Cga>Tga	p.R302*	TRPV5_uc003wbz.3_Nonsense_Mutation_p.R302*	NM_019841	NP_062815	Q9NQA5	TRPV5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 5 (TRPV5), mRNA.	302					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.R302R(2)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CATACCTCTCGTTTATCAGAG	0.527													A	142625188	G	A	142625188	4	1	257	1	0	0	0	0	0	1	0	0	16700	1153	40	1	1321	1	TRPV5	7	142625188	Nonsense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	12267517	142625188	16513475	33	17999											
MLL3	58508	broad.mit.edu	37	chr7	151944990	151944990	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattaaaatcaccctacctgTttggaccgaggtctaccagg	11	10	8	12	1	2	0	1	0	1	0	2	2	2	1	4	3	2	1	4	3	4	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr7:151944990T>C	uc003wla.3	-	13	2748	c.2529A>G	c.(2527-2529)aaA>aaG	p.K843K		NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	843					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		ACCCTACCTGTTTGGACCGAG	0.368			N		medulloblastoma								C	151944990	T	C	151944990	2	2	257	1	0	0	0	0	0	0	0	1	9697	1722	60	3		3	MLL3	7	151944990	Silent	SNP	T	TCGA-76-4925-01A-01D-1486-08	9319802	151944990	7193673	34	18000											
EIF3H	8667	broad.mit.edu	37	chr8	117738327	117738327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaatttcaagccgatcttCtacaaccagacccaaaagca	15	8	6	12	1	3	1	1	0	2	1	3	2	3	1	3	1	4	2	3	1	6	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:117738327C>T	uc003yob.3	-	3	1026	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	EIF3H_uc003yoa.3_Missense_Mutation_p.E73K|EIF3H_uc011lhz.1_Missense_Mutation_p.E73K	NM_003756	NP_003747	O15372	EIF3H_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit H (EIF3H), mRNA.	73	MPN.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			large_intestine(2)|lung(10)|skin(1)	13	all_cancers(13;3.98e-22)|Lung NSC(37;0.000183)|Ovarian(258;0.0172)					AGCCGATCTTCTACAACCAGA	0.403													T	117738327	C	T	117738327	3	4	257	1	0	0	0	0	1	0	0	0	5059	922	32	2	869	2	EIF3H	8	117738327	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		117738327	28625695	35	18001											
FAM83H	286077	broad.mit.edu	37	chr8	144808899	144808899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggcaccggactacccctgCgctcggggtaggctgaggtg	5	6	18	12	3	0	1	0	1	0	0	1	2	0	2	3	7	2	4	3	7	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr8:144808899C>T	uc003yzk.3	-	4	2801	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	911					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			ACTACCCCTGCGCTCGGGGTA	0.682													T	144808899	C	T	144808899	3	4	257	1	0	0	0	0	1	0	0	0	5690	768	27	1	811	1	FAM83H	8	144808899	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	27070572	144808899	1555123	36	18002											
DENND4C	55667	broad.mit.edu	37	chr9	19305352	19305352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaactttttccccagatGatctttccatttcagtggca	10	16	5	10	0	2	2	1	1	1	1	4	2	4	2	3	1	1	1	3	1	2	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:19305352G>A	uc003znq.3	+	5	686	c.606G>A	c.(604-606)atG>atA	p.M202I	DENND4C_uc011lnc.2_5'UTR	NM_017925	NP_060395	Q5VZ89	DEN4C_HUMAN	Homo sapiens DENN/MADD domain containing 4C (DENND4C), mRNA.	202	DENN.					integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						TTCCCCAGATGATCTTTCCAT	0.343													A	19305352	G	A	19305352	3	1	257	1	0	0	0	0	1	0	0	0	4474	1290	45	2	628	2	DENND4C	9	19305352	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19305352	121908079	37	18003											
CYLC2	1539	broad.mit.edu	37	chr9	105763888	105763888	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaactttgggccatatgatAattacattccaggtaagaaa	16	12	7	6	0	0	2	0	1	0	1	1	2	1	2	2	2	2	1	2	2	7	7			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:105763888A>T	uc004bbs.2	+	1	116	c.46A>T	c.(46-48)Aat>Tat	p.N16Y		NM_001340	NP_001331	Q14093	CYLC2_HUMAN	Homo sapiens cylicin, basic protein of sperm head cytoskeleton 2 (CYLC2), mRNA.	16					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				GCCATATGATAATTACATTCC	0.259													T	105763888	A	T	105763888	3	4	257	1	0	0	0	0	1	0	0	0	4175	362	13	5	52	5	CYLC2	9	105763888	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	86458536	105763888	35449543	38	18004											
C9orf84	158401	broad.mit.edu	37	chr9	114466161	114466161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttctacctagttttacCtgcaaaattatggcagtgtg	10	17	7	7	0	1	0	0	0	1	0	1	0	1	0	2	1	3	3	2	1	7	8			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:114466161C>A	uc004bfr.3	-	20	2910	c.2775_splice	c.e20+1	p.Q925_splice	C9orf84_uc011lwt.2_Intron|C9orf84_uc004bfq.3_Splice_Site_p.Q886_splice|C9orf84_uc010mug.3_Splice_Site_p.Q836_splice	NM_173521	NP_775792	Q5VXU9	CI084_HUMAN	Homo sapiens chromosome 9 open reading frame 84 (C9orf84), transcript variant 1, mRNA.	925										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTAGTTTTACCTGCAAAATTA	0.318													A	114466161	C	A	114466161	3	1	257	1	0	0	0	0	1	0	0	0	2526	695	24	4	1587	4	C9orf84	9	114466161	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	8702273	114466161	26747270	39	18005											
ENG	2022	broad.mit.edu	37	chr9	130605418	130605418	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacttcaaggatggcattGggggcctgagccacgcagcc	8	7	15	11	1	1	1	1	1	0	0	1	3	1	3	3	5	2	2	3	5	1	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr9:130605418G>A	uc004bsj.4	-	1	587	c.174C>T	c.(172-174)ccC>ccT	p.P58P	ENG_uc011mam.2_5'UTR|ENG_uc004bsk.4_Silent_p.P58P|5S_rRNA_uc022bnt.1_5'Flank	NM_001114753	NP_001108225	P17813	EGLN_HUMAN	Homo sapiens endoglin (ENG), transcript variant 1, mRNA.	58					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						GGATGGCATTGGGGGCCTGAG	0.602									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				A	130605418	G	A	130605418	2	1	257	1	0	0	0	0	0	0	0	1	5158	1335	47	2		2	ENG	9	130605418	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	16139257	130605418	10608013	40	18006											
MMRN2	79812	broad.mit.edu	37	chr10	88703548	88703548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatttggtgtccacatcGgcttggagctctgagatcga	8	13	11	9	2	2	1	1	1	1	1	5	4	3	2	1	3	1	2	1	3	1	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:88703548G>A	uc001kea.3	-	5	1120	c.993C>T	c.(991-993)gcC>gcT	p.A331A	MMRN2_uc010qmn.2_Intron|MMRN2_uc009xtb.2_Silent_p.A288A	NM_024756	NP_079032	Q9H8L6	MMRN2_HUMAN	Homo sapiens multimerin 2 (MMRN2), mRNA.	331						extracellular space				breast(1)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|stomach(1)	19						TGTCCACATCGGCTTGGAGCT	0.622													A	88703548	G	A	88703548	2	1	257	1	0	0	0	0	0	0	0	1	9747	1103	39	1		1	MMRN2	10	88703548	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08		88703548	46831199	41	18007											
PTEN	5728	broad.mit.edu	37	chr10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A																															tttgagttccctcagccgttINSacctgtgtgtggtgatatca																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr10:89717715_89717716insA	uc001kfb.3	+	6	1772_1773	c.740_741insA	c.(739-741)ttafs	p.L247fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	247	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(13)|p.P246L(8)|p.R55fs*1(5)|p.L247*(5)|p.P246fs*10(3)|p.P246fs*3(2)|p.L247F(2)|p.P246fs*11(2)|p.L247fs*10(2)|p.N212fs*1(2)|p.L247fs*6(2)|p.L247fs*4(2)|p.L247fs*5(2)|p.Y27fs*1(2)|p.P246fs*9(1)|p.P246fs*14(1)|p.P246fs*12(1)|p.L247L(1)|p.L247fs*11(1)|p.L247fs*12(1)|p.?(1)|p.P246_L247insGP(1)|p.G165_K342del(1)|p.L247fs*8(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89717716	-	A	89717715	7	5	257	1	0	1	1	0	0	0	0	0	12823	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-76-4925-01A-01D-1486-08	1014167	89717715	45817032	42	18008											
ART1	417	broad.mit.edu	37	chr11	3681258	3681258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgggcagcggccagcGtccaccccggtgccaccagg	5	4	14	18	3	0	0	0	0	0	0	2	0	2	0	7	4	3	2	7	4	0	0	rs141732093		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:3681258G>A	uc001lye.1	+	2	610	c.509G>A	c.(508-510)cGt>cAt	p.R170H	ART1_uc009yeb.1_Missense_Mutation_p.R170H	NM_004314	NP_004305	P52961	NAR1_HUMAN	Homo sapiens ADP-ribosyltransferase 1 (ART1), mRNA.	170					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	AGCGGCCAGCGTCCACCCCGG	0.701													A	3681258	G	A	3681258	3	1	257	1	0	0	0	0	1	0	0	0	1002	1145	40	1	515	1	ART1	11	3681258	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		3681258	131325258	43	18009											
OR10A3	26496	broad.mit.edu	37	chr11	7960954	7960954	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgatggcatttcccatcagGgtcaccacataaataactag	14	10	7	10	0	2	1	2	1	0	0	3	1	3	1	2	2	1	1	2	2	4	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:7960954G>A	uc010rbi.2	-	0	114	c.114C>T	c.(112-114)acC>acT	p.T38T		NM_001003745	NP_001003745	P58181	O10A3_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily A, member 3 (OR10A3), mRNA.	38					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCCCATCAGGGTCACCACAT	0.473													A	7960954	G	A	7960954	2	1	257	1	0	0	0	0	0	0	0	1	10967	1219	43	2		2	OR10A3	11	7960954	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	4279696	7960954	127045562	44	18010											
CALCA	796	broad.mit.edu	37	chr11	14991572	14991572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagcaggaggcgcgcttCgtcctcactgagcgtggccg	6	6	15	14	5	1	1	1	1	0	0	3	2	2	2	3	3	3	2	3	3	0	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:14991572C>T	uc001mlv.1	-	2	187	c.136G>A	c.(136-138)Gaa>Aaa	p.E46K	CALCA_uc001mlt.2_Missense_Mutation_p.E46K|CALCA_uc001mlu.2_Non-coding_Transcript|CALCA_uc001mlw.1_Missense_Mutation_p.E46K	NM_001741	NP_001732	P06881	CALCA_HUMAN	Homo sapiens calcitonin-related polypeptide alpha (CALCA), transcript variant 1, mRNA.	46					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	AGGCGCGCTTCGTCCTCACTG	0.642											OREG0020791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	14991572	C	T	14991572	3	4	257	1	0	0	0	0	1	0	0	0	2601	893	31	1	461	1	CALCA	11	14991572	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	7030618	14991572	120014944	45	18011											
SYT13	57586	broad.mit.edu	37	chr11	45274024	45274024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccctagaggcacagatGtcccgtccaggcccaggcgg	8	4	13	16	2	0	2	0	0	0	2	2	2	2	2	5	4	1	1	5	4	1	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:45274024G>A	uc001myq.2	-	3	920	c.794C>T	c.(793-795)aCa>aTa	p.T265I	SYT13_uc009yku.1_Missense_Mutation_p.T121I	NM_020826	NP_001234916	Q7L8C5	SYT13_HUMAN	Homo sapiens synaptotagmin XIII (SYT13), transcript variant 1, mRNA.	265						transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						AGGCACAGATGTCCCGTCCAG	0.647											OREG0020928	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45274024	G	A	45274024	3	1	257	1	0	0	0	0	1	0	0	0	15566	1377	48	2	498	2	SYT13	11	45274024	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08	30282452	45274024	89732492	46	18012											
OR8K3	219473	broad.mit.edu	37	chr11	56086116	56086116	+	Frame_Shift_Del	DEL	C	C	-																															ttgtgttcattggtagtgaaCtttttattctctcagccatg																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:56086116delC	uc010rjf.2	+	0	334	c.334delC	c.(334-336)cttfs	p.L112fs		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L112R(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TGGTAGTGAACTTTTTATTCT	0.378													-	56086116	C	-	56086116	7	5	257	1	0	1	0	1	0	0	0	0	11320	565	20	0	336	0	OR8K3	11	56086116	Frame_Shift_Del	DEL	C	TCGA-76-4925-01A-01D-1486-08	10812092	56086116	78920400	47	18013											
TCN1	6947	broad.mit.edu	37	chr11	59629066	59629066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtggttgacaacttcggCggttgagtagttcccattga	9	12	13	7	2	0	3	0	3	0	0	2	4	1	3	1	3	1	4	1	3	3	6	rs77116206	by1000genomes	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:59629066C>T	uc001noj.2	-	3	588	c.490G>A	c.(490-492)Gcc>Acc	p.A164T		NM_001062	NP_001053	P20061	TCO1_HUMAN	Homo sapiens transcobalamin I (vitamin B12 binding protein, R binder family) (TCN1), mRNA.	164					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAACTTCGGCGGTTGAGTAG	0.453													T	59629066	C	T	59629066	3	4	257	1	0	0	0	0	1	0	0	0	15806	768	27	1	835	1	TCN1	11	59629066	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	3542950	59629066	75377450	48	18014											
MTA2	9219	broad.mit.edu	37	chr11	62364206	62364206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accattcctccatctcatccCgacacagcaccgggcctccc	8	7	5	21	2	1	0	1	0	1	0	6	1	5	0	7	1	1	1	7	1	0	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:62364206C>T	uc001ntq.2	-	8	1175	c.785G>A	c.(784-786)cGg>cAg	p.R262Q	MTA2_uc010rlx.1_Missense_Mutation_p.R89Q	NM_004739	NP_004730	O94776	MTA2_HUMAN	Homo sapiens metastasis associated 1 family, member 2 (MTA2), mRNA.	262					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						CATCTCATCCCGACACAGCAC	0.542													T	62364206	C	T	62364206	3	4	257	1	0	0	0	0	1	0	0	0	9985	652	23	1	1261	1	MTA2	11	62364206	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	2735140	62364206	72642310	49	18015											
SF1	7536	broad.mit.edu	37	chr11	64537728	64537728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccgagcccctccgcttacTtgtaatctgcaggtggcttg	6	11	11	13	2	1	0	0	0	1	0	2	2	2	0	4	2	3	4	4	2	2	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:64537728T>C	uc001obb.2	-	4	841	c.389_splice	c.e4+1	p.K130_splice	SF1_uc010rnm.2_5'Flank|SF1_uc010rnn.2_Splice_Site_p.K104_splice|SF1_uc001oaz.2_Splice_Site_p.K255_splice|SF1_uc001oba.2_Splice_Site_p.K130_splice|SF1_uc001obd.2_Splice_Site_p.K130_splice|SF1_uc001obc.2_Splice_Site_p.K130_splice|SF1_uc001obe.2_Splice_Site_p.K15_splice|SF1_uc010rno.2_Splice_Site_p.K15_splice	NM_004630	NP_001171502	Q15637	SF01_HUMAN	Homo sapiens splicing factor 1 (SF1), transcript variant 1, mRNA.	130					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						CTCCGCTTACTTGTAATCTGC	0.532													C	64537728	T	C	64537728	3	2	257	1	0	0	0	0	1	0	0	0	14238	1623	56	3	1708	3	SF1	11	64537728	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	2173522	64537728	70468788	50	18016											
USP35	57558	broad.mit.edu	37	chr11	77921629	77921629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaatctgtcagcaacgtcAcctccttcttccctaaggac	9	11	6	15	2	4	0	2	0	2	0	7	2	6	1	3	1	2	1	3	1	3	3			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:77921629A>C	uc021qny.1	+	9	3084	c.2728A>C	c.(2728-2730)Acc>Ccc	p.T910P	USP35_uc001oze.2_Missense_Mutation_p.T666P|USP35_uc001ozc.3_Missense_Mutation_p.T478P|USP35_uc010rsp.2_Missense_Mutation_p.T342P|USP35_uc001ozd.3_Missense_Mutation_p.T521P|USP35_uc001ozf.3_Missense_Mutation_p.T641P	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	Homo sapiens ubiquitin specific peptidase 35 (USP35), mRNA.	910					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CAGCAACGTCACCTCCTTCTT	0.572													C	77921629	A	C	77921629	3	2	257	1	0	0	0	0	1	0	0	0	17168	159	6	5	2762	5	USP35	11	77921629	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	13383901	77921629	57084887	51	18017											
MMP13	4322	broad.mit.edu	37	chr11	102822866	102822866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcaagacctaaggagtggCcgaactcatgcgcagcaaca	13	5	12	11	2	2	1	2	0	0	1	2	3	2	2	2	3	4	2	2	3	4	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr11:102822866C>T	uc001phl.3	-	4	703	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_002427	NP_002418	P45452	MMP13_HUMAN	Homo sapiens matrix metallopeptidase 13 (collagenase 3) (MMP13), mRNA.	225					collagen catabolic process|proteolysis	extracellular space	metalloendopeptidase activity|zinc ion binding	p.G225F(2)|p.F224F(2)|p.G225V(2)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|skin(1)|stomach(1)	27		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAAGGAGTGGCCGAACTCATG	0.443													T	102822866	C	T	102822866	3	4	257	1	0	0	0	0	1	0	0	0	9727	739	26	2	765	2	MMP13	11	102822866	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	24901237	102822866	32183650	52	18018											
IQSEC3	440073	broad.mit.edu	37	chr12	247574	247574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagagccgcctgccaCggcggatctccctgcgcaag	6	7	13	15	4	2	1	0	0	2	1	3	3	2	2	4	3	3	1	4	3	1	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:247574C>T	uc001qhw.2	+	3	1045	c.1045C>T	c.(1045-1047)Cgg>Tgg	p.R349W	IQSEC3_uc001qhu.1_Missense_Mutation_p.R46W|LOC574538_uc001qhv.1_Non-coding_Transcript	NM_001170738	NP_001164209	Q9UPP2	IQEC3_HUMAN	Homo sapiens IQ motif and Sec7 domain 3 (IQSEC3), transcript variant 1, mRNA.	349					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCGCCTGCCACGGCGGATCTC	0.667													T	247574	C	T	247574	3	4	257	1	0	0	0	0	1	0	0	0	7877	527	19	1	1059	1	IQSEC3	12	247574	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		247574	133604321	53	18019											
CLEC4C	170482	broad.mit.edu	37	chr12	7898972	7898972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgaggagcaagatggataCgactgccatggaccagacct	13	6	12	10	1	0	3	0	1	0	2	0	7	0	6	3	3	3	1	3	3	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:7898972C>T	uc001qtg.1	-	1	253	c.79G>A	c.(79-81)Gta>Ata	p.V27I	CLEC4C_uc001qth.1_Missense_Mutation_p.V27I|CLEC4C_uc001qti.1_Intron	NM_130441	NP_569708	Q8WTT0	CLC4C_HUMAN	Homo sapiens C-type lectin domain family 4, member C (CLEC4C), transcript variant 1, mRNA.	27					innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		AAGATGGATACGACTGCCATG	0.483													T	7898972	C	T	7898972	3	4	257	1	0	0	0	0	1	0	0	0	3544	536	19	1	582	1	CLEC4C	12	7898972	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	7651398	7898972	125952923	54	18020											
C12orf51	283450	broad.mit.edu	37	chr12	112605619	112605619	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcccggcctctgcctaccTtgttcttattgacagctgag	5	13	8	15	1	2	2	0	2	2	0	3	2	3	2	5	1	3	2	5	1	2	5			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr12:112605619T>A	uc021reb.1	-	71	12306	c.11910_splice	c.e71+1	p.K3970_splice		NM_001109662	NP_001103132			Homo sapiens chromosome 12 open reading frame 51 (C12orf51), mRNA.											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(6)|large_intestine(16)|lung(49)|ovary(4)|prostate(1)|urinary_tract(6)	100						TCTGCCTACCTTGTTCTTATT	0.617													A	112605619	T	A	112605619	3	1	257	1	0	0	0	0	1	0	0	0	1709	1623	56	5	969	5	C12orf51	12	112605619	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08	104706647	112605619	21246276	55	18021											
POLE2	5427	broad.mit.edu	37	chr14	50120778	50120778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtgatgctttcagcaaGtggtggcctataaaaacaat	14	12	9	6	0	1	1	1	1	0	0	1	1	1	1	1	2	3	2	1	2	7	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr14:50120778G>A	uc001wwu.3	-	14	1318	c.1141C>T	c.(1141-1143)Ctt>Ttt	p.L381F	NEMF_uc010anj.1_Intron|POLE2_uc010ann.3_Missense_Mutation_p.L95F|POLE2_uc021rsr.1_Missense_Mutation_p.L355F|POLE2_uc010ano.3_Missense_Mutation_p.L381F	NM_002692	NP_002683	P56282	DPOE2_HUMAN	Homo sapiens polymerase (DNA directed), epsilon 2 (p59 subunit) (POLE2), transcript variant 1, mRNA.	381					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity	p.P380S(1)		kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CTTTCAGCAAGTGGTGGCCTA	0.294													A	50120778	G	A	50120778	3	1	257	1	0	0	0	0	1	0	0	0	12274	1029	36	2	462	2	POLE2	14	50120778	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		50120778	57228762	56	18022											
MYO9A	4649	broad.mit.edu	37	chr15	72195395	72195395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtacatggaagtggcTcacaaaatcctgaaaaataa	20	7	8	6	0	1	2	1	1	0	1	2	3	2	3	1	2	1	2	1	2	9	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:72195395T>C	uc002atl.4	-	21	3360	c.2887A>G	c.(2887-2889)Agc>Ggc	p.S963G	MYO9A_uc010biq.3_Missense_Mutation_p.S583G|MYO9A_uc002atn.1_Missense_Mutation_p.S944G	NM_006901	NP_008832	B2RTY4	MYO9A_HUMAN	Homo sapiens myosin IXA (MYO9A), mRNA.	963	Myosin head-like 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGGAAGTGGCTCACAAAATCC	0.269													C	72195395	T	C	72195395	3	2	257	1	0	0	0	0	1	0	0	0	10160	1551	54	3	4843	3	MYO9A	15	72195395	Missense_Mutation	SNP	T	TCGA-76-4925-01A-01D-1486-08		72195395	30335997	57	18023											
IL16	3603	broad.mit.edu	37	chr15	81598457	81598457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgacctcaactcctccaCtgactctgcagcctcagcct	7	8	6	20	1	3	1	2	1	1	0	5	2	5	1	6	0	4	1	6	0	1	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr15:81598457C>G	uc021ssh.1	+	15	3730	c.3629C>G	c.(3628-3630)aCt>aGt	p.T1210S	IL16_uc010blq.1_Missense_Mutation_p.T1164S|IL16_uc002bge.4_Non-coding_Transcript|IL16_uc010unp.2_Missense_Mutation_p.T1252S|IL16_uc002bgg.3_Missense_Mutation_p.T1210S|IL16_uc002bgi.1_Missense_Mutation_p.T600S|IL16_uc002bgj.3_Missense_Mutation_p.T704S|IL16_uc021ssi.1_Missense_Mutation_p.T509S|IL16_uc002bgl.1_Missense_Mutation_p.T509S|IL16_uc010unq.1_Missense_Mutation_p.T509S	NM_172217	NP_757366	Q14005	IL16_HUMAN	Homo sapiens interleukin 16 (IL16), transcript variant 2, mRNA.	1210					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AACTCCTCCACTGACTCTGCA	0.562													G	81598457	C	G	81598457	3	3	257	1	0	0	0	0	1	0	0	0	7691	565	20	4	3691	4	IL16	15	81598457	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	9403062	81598457	20932935	58	18024											
HS3ST6	64711	broad.mit.edu	37	chr16	1961835	1961835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggaagtcctgcacgCggccgacctctccggccggg	5	4	15	17	5	1	0	0	0	1	0	3	2	2	1	6	5	1	1	6	5	1	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:1961835C>T	uc002cnf.3	-	1	692	c.692G>A	c.(691-693)cGc>cAc	p.R231H	TCRBV20S1_uc021tak.1_Intron	NM_001009606	NP_001009606	C9JH64	C9JH64_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 6 (HS3ST6), mRNA.	231								p.R231H(3)		endometrium(2)|lung(2)	4						GTCCTGCACGCGGCCGACCTC	0.667													T	1961835	C	T	1961835	3	4	257	1	0	0	0	0	1	0	0	0	7424	768	27	1	247	1	HS3ST6	16	1961835	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		1961835	88392918	59	18025											
CLUAP1	23059	broad.mit.edu	37	chr16	3554767	3554767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataccctcgacatatttctAtggaaaatttccgtacaccc	12	12	5	12	2	1	0	0	0	1	0	3	3	2	1	3	1	2	1	3	1	6	6			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:3554767A>G	uc002cvk.1	+	1	175	c.70A>G	c.(70-72)Atg>Gtg	p.M24V	CLUAP1_uc002cvj.1_Missense_Mutation_p.M24V	NM_015041	NP_079069	Q96AJ1	CLUA1_HUMAN	Homo sapiens clusterin associated protein 1 (CLUAP1), transcript variant 1, mRNA.	24						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						ACATATTTCTATGGAAAATTT	0.408													G	3554767	A	G	3554767	3	3	257	1	0	0	0	0	1	0	0	0	3600	449	16	3	76	3	CLUAP1	16	3554767	Missense_Mutation	SNP	A	TCGA-76-4925-01A-01D-1486-08	1592932	3554767	86799986	60	18026											
PLCG2	5336	broad.mit.edu	37	chr16	81891938	81891938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaggaagcgatgaatgcGtccacgcccaccattatcga	12	6	9	14	4	0	1	0	1	0	0	2	4	1	2	4	1	2	0	4	1	3	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr16:81891938G>A	uc002fgt.3	+	3	586	c.408G>A	c.(406-408)gcG>gcA	p.A136A	PLCG2_uc010chg.1_Silent_p.A136A	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	136					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CGATGAATGCGTCCACGCCCA	0.478													A	81891938	G	A	81891938	2	1	257	1	0	0	0	0	0	0	0	1	12113	1132	40	1		1	PLCG2	16	81891938	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	78337171	81891938	8462815	61	18027											
TP53	7157	broad.mit.edu	37	chr17	7577535	7577535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatggtgaggatgggcCtccggttcatgccgcccatg	6	10	15	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1	rs67185453		TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:7577535C>G	uc002gim.2	-	6	940	c.746G>C	c.(745-747)aGg>aCg	p.R249T	TP53_uc002gig.1_Missense_Mutation_p.R249T|TP53_uc002gih.3_Missense_Mutation_p.R249T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R117T|TP53_uc010cnf.1_Missense_Mutation_p.R117T|TP53_uc002gii.1_Missense_Mutation_p.R117T|TP53_uc010cni.1_Missense_Mutation_p.R249T|TP53_uc010cnh.1_Missense_Mutation_p.R249T|TP53_uc002gij.2_Missense_Mutation_p.R249T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R156T|TP53_uc002gio.2_Missense_Mutation_p.R117T|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R248Q(565)|p.R248W(513)|p.R249S(326)|p.R248L(70)|p.R249M(69)|p.R249K(36)|p.R249T(32)|p.R249W(31)|p.R249G(28)|p.R248P(16)|p.R248G(12)|p.R249fs*96(10)|p.R248R(10)|p.0?(8)|p.R249R(6)|p.?(5)|p.M246_P250delMNRRP(4)|p.R249fs*14(3)|p.N247_P250delNRRP(2)|p.R249_I251delRPI(2)|p.N247_R248>KW(2)|p.R249_P250delRP(2)|p.N247_R248delNR(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248fs*97(2)|p.R249_T256delRPILTIIT(2)|p.R249_P250insR(1)|p.R248Y(1)|p.R248C(1)|p.N247_R248>IP(1)|p.R249_P250>SS(1)|p.R248fs*16(1)|p.R249fs*15(1)|p.R249fs*19(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)		GAGGATGGGCCTCCGGTTCAT	0.567		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)			G	7577535	C	G	7577535	3	3	257	1	0	0	0	0	1	0	0	0	16482	681	24	4	544	4	TP53	17	7577535	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		7577535	73617675	62	18028											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr17:62500099_62500102delACAG	uc010deh.2	-	4	484	c.441_splice	c.e4+1	p.S147_splice	DDX5_uc002jek.2_Splice_Site_p.S147_splice|DDX5_uc002jej.2_Splice_Site_p.S42_splice|DDX5_uc010wqa.1_Intron|MIR5047_uc021ubs.1_5'Flank|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								-	62500102	ACAG	-	62500099	8	5	257	1	0	1	0	1	0	0	1	0	4401	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-76-4925-01A-01D-1486-08	54922564	62500099	18695111	63	18029											
GATA6	2627	broad.mit.edu	37	chr18	19762767	19762767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaattcaaaccaggaaacGaaaacctaagaacataaata	22	5	7	7	1	1	1	1	0	0	1	1	4	1	3	2	2	4	0	2	2	10	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr18:19762767G>A	uc002ktt.1	+	4	1743	c.1478G>A	c.(1477-1479)cGa>cAa	p.R493Q	GATA6_uc002ktu.1_Missense_Mutation_p.R493Q	NM_005257	NP_005248	Q92908	GATA6_HUMAN	Homo sapiens GATA binding protein 6 (GATA6), mRNA.	493					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACCAGGAAACGAAAACCTAAG	0.313													A	19762767	G	A	19762767	3	1	257	1	0	0	0	0	1	0	0	0	6312	1058	37	1	1492	1	GATA6	18	19762767	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19762767	58314481	64	18030											
CREB3L3	84699	broad.mit.edu	37	chr19	4168400	4168400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaaatccggaacaagcagtCggcgcaagaaagcaggaaga	18	2	13	8	3	0	2	0	0	0	2	2	5	1	4	1	3	3	3	1	3	7	0	rs147422200	by1000genomes	TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:4168400C>T	uc002lzl.3	+	5	883	c.767C>T	c.(766-768)tCg>tTg	p.S256L	CREB3L3_uc002lzm.3_Missense_Mutation_p.S246L|CREB3L3_uc010xib.2_Missense_Mutation_p.S245L|CREB3L3_uc010xic.2_Intron	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	256					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AACAAGCAGTCGGCGCAAGAA	0.532													T	4168400	C	T	4168400	3	4	257	1	0	0	0	0	1	0	0	0	3889	893	31	1	789	1	CREB3L3	19	4168400	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		4168400	54960583	65	18031											
RAVER1	125950	broad.mit.edu	37	chr19	10434119	10434119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggggcgcagaaggagaCtcgcaggtggctgcccccca	8	3	15	15	2	0	2	0	0	0	2	1	3	0	2	4	5	1	3	4	5	1	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:10434119C>T	uc002moa.3	-	3	1011	c.931G>A	c.(931-933)Gtc>Atc	p.V311I		NM_133452	NP_597709	Q8IY67	RAVR1_HUMAN	Homo sapiens ribonucleoprotein, PTB-binding 1 (RAVER1), mRNA.	294	Interaction with PTBP1 (By similarity).					cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	18			OV - Ovarian serous cystadenocarcinoma(20;1.81e-09)|Epithelial(33;3.65e-06)|all cancers(31;8.35e-06)			CAGAAGGAGACTCGCAGGTGG	0.716													T	10434119	C	T	10434119	3	4	257	1	0	0	0	0	1	0	0	0	13182	565	20	2	1379	2	RAVER1	19	10434119	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	6265719	10434119	48694864	66	18032											
GATAD2A	54815	broad.mit.edu	37	chr19	19576172	19576172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatgaccgaagaagcatgCcgaacacggagtcagaaacg	17	3	12	9	4	1	4	1	1	0	3	1	7	1	5	2	1	4	1	2	1	5	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:19576172C>T	uc010xqt.2	+	1	330	c.18C>T	c.(16-18)tgC>tgT	p.C6C	GATAD2A_uc010xqu.2_5'UTR|GATAD2A_uc010xqv.2_Silent_p.C25C|GATAD2A_uc010xqw.2_5'UTR	NM_017660	NP_060130	Q86YP4	P66A_HUMAN	Homo sapiens GATA zinc finger domain containing 2A (GATAD2A), mRNA.	6					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						AAGAAGCATGCCGAACACGGA	0.473													T	19576172	C	T	19576172	2	4	257	1	0	0	0	0	0	0	0	1	6314	747	26	2		2	GATAD2A	19	19576172	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	9142053	19576172	39552811	67	18033											
PLEKHG2	64857	broad.mit.edu	37	chr19	39908646	39908646	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggcggagggggtggcccCcggctacgagggggtgagcg	5	3	24	9	4	0	1	0	1	0	0	0	4	0	3	2	9	2	1	2	9	1	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:39908646C>G	uc010xuz.2	+	8	1309	c.984C>G	c.(982-984)ccC>ccG	p.P328P	PLEKHG2_uc010xuy.2_Silent_p.P269P|PLEKHG2_uc002olj.3_Silent_p.P328P|PLEKHG2_uc010xva.2_Silent_p.P135P	NM_022835	NP_073746	Q9H7P9	PKHG2_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 2 (PLEKHG2), mRNA.	328	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGGGTGGCCCCCGGCTACGAG	0.662													G	39908646	C	G	39908646	2	3	257	1	0	0	0	0	0	0	0	1	12146	610	22	4		4	PLEKHG2	19	39908646	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	20332474	39908646	19220337	68	18034											
KLK5	25818	broad.mit.edu	37	chr19	51453308	51453308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctcccaggtcctggttGctcccagagggcacggtgtt	5	9	13	14	1	0	1	0	0	0	1	3	1	3	1	4	4	2	5	4	4	0	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr19:51453308G>A	uc002pue.3	-	3	356	c.138C>T	c.(136-138)agC>agT	p.S46S	KLK5_uc002puf.3_Silent_p.S46S|KLK5_uc002pug.3_Silent_p.S46S	NM_001077491	NP_036559	Q9Y337	KLK5_HUMAN	Homo sapiens kallikrein-related peptidase 5 (KLK5), transcript variant 2, mRNA.	46				Missing (in Ref. 3; AAG33358).	epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity	p.S46C(1)		NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		GGTCCTGGTTGCTCCCAGAGG	0.612													A	51453308	G	A	51453308	2	1	257	1	0	0	0	0	0	0	0	1	8465	1310	46	2		2	KLK5	19	51453308	Silent	SNP	G	TCGA-76-4925-01A-01D-1486-08	11544662	51453308	7675675	69	18035											
GFRA4	64096	broad.mit.edu	37	chr20	3641311	3641311	+	Frame_Shift_Del	DEL	C	C	-																															aggggtgacggcggtgcctgCggggaccctgagggcgaagt																										TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:3641311delC	uc002wio.3	-	2	589	c.589delG	c.(589-591)gcafs	p.A197fs	GFRA4_uc002win.3_Intron|GFRA4_uc002wip.1_Frame_Shift_Del_p.P170fs	NM_145762	NP_665705	Q9GZZ7	GFRA4_HUMAN	Homo sapiens GDNF family receptor alpha 4 (GFRA4), transcript variant 2, mRNA.	197						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						GCGGTGCCTGCGGGGACCCTG	0.731													-	3641311	C	-	3641311	7	5	257	1	0	1	0	1	0	0	0	0	6406	768	27	0	322	0	GFRA4	20	3641311	Frame_Shift_Del	DEL	C	TCGA-76-4925-01A-01D-1486-08		3641311	59384209	70	18036											
PROKR2	128674	broad.mit.edu	37	chr20	5283350	5283350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtttgataattcatcCgtggtttcaaggggtgaacg	9	12	13	7	3	2	2	2	2	0	0	3	2	3	2	2	4	1	2	2	4	3	4			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:5283350C>T	uc010zqw.2	-	1	499	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	PROKR2_uc010zqx.2_Missense_Mutation_p.R164Q|PROKR2_uc010zqy.2_Missense_Mutation_p.R164Q	NM_144773	NP_658986	Q8NFJ6	PKR2_HUMAN	Homo sapiens prokineticin receptor 2 (PROKR2), mRNA.	164			R -> Q (in KAL3).			integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						ATAATTCATCCGTGGTTTCAA	0.493										HNSCC(71;0.22)			T	5283350	C	T	5283350	3	4	257	1	0	0	0	0	1	0	0	0	12639	652	23	1	666	1	PROKR2	20	5283350	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	1642039	5283350	57742170	71	18037											
TFAP2C	7022	broad.mit.edu	37	chr20	55206728	55206728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctccacgacatgcctcaCcagatggacgaggtgcaggt	9	6	14	12	2	1	1	1	0	0	1	2	4	2	2	3	4	2	2	3	4	0	0			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr20:55206728C>A	uc002xya.3	+	1	759	c.516C>A	c.(514-516)caC>caA	p.H172Q	TFAP2C_uc010zzi.2_Missense_Mutation_p.H3Q	NM_003222	NP_003213	Q92754	AP2C_HUMAN	Homo sapiens transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma) (TFAP2C), mRNA.	172					cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			ACATGCCTCACCAGATGGACG	0.711													A	55206728	C	A	55206728	3	1	257	1	0	0	0	0	1	0	0	0	15889	506	18	4	522	4	TFAP2C	20	55206728	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08	49923378	55206728	7818792	72	18038											
TMPRSS15	5651	broad.mit.edu	37	chr21	19698772	19698772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatccccaagtgatagccaGtagtaaagtttgctttaaac	14	11	8	8	0	0	1	0	1	0	0	1	2	1	1	3	0	3	4	3	0	8	6			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chr21:19698772G>T	uc002ykw.3	-	15	1929	c.1898C>A	c.(1897-1899)aCt>aAt	p.T633N		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	633	CUB 2.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTGATAGCCAGTAGTAAAGTT	0.438													T	19698772	G	T	19698772	3	4	257	1	0	0	0	0	1	0	0	0	16346	1029	36	4	1201	4	TMPRSS15	21	19698772	Missense_Mutation	SNP	G	TCGA-76-4925-01A-01D-1486-08		19698772	28431123	73	18039											
BHLHB9	80823	broad.mit.edu	37	chrX	102004405	102004405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggggccgattgcaaacCtaggtcaggggctgaggagg	8	6	19	8	1	1	1	1	1	0	0	1	3	1	2	2	8	2	3	2	8	2	2			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:102004405C>T	uc022cbi.1	+	0	482	c.482C>T	c.(481-483)cCt>cTt	p.P161L	BHLHB9_uc010nog.3_Missense_Mutation_p.P161L|BHLHB9_uc011mrq.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrr.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrs.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrt.2_Missense_Mutation_p.P161L|BHLHB9_uc004ejo.3_Missense_Mutation_p.P161L|BHLHB9_uc011mru.2_Missense_Mutation_p.P161L|BHLHB9_uc011mrv.2_Missense_Mutation_p.P161L	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	161						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GATTGCAAACCTAGGTCAGGG	0.493													T	102004405	C	T	102004405	3	4	257	1	0	0	0	0	1	0	0	0	1426	681	24	2	484	2	BHLHB9	23	102004405	Missense_Mutation	SNP	C	TCGA-76-4925-01A-01D-1486-08		102004405	53266155	74	18040											
FAM127C	441518	broad.mit.edu	37	chrX	134156181	134156181	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcctcccatccaaagacCcgcttcatctcagccaggaa	10	8	5	18	1	2	1	2	0	1	1	7	2	6	2	6	1	1	1	6	1	2	1			TCGA-76-4925-01A-01D-1486-08	TCGA-76-4925-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca2fa3da-18d6-4e8b-8081-b07022ead6a8	90829cdd-ee26-49f2-b080-1a17d4f1351b	g.chrX:134156181C>T	uc004eyc.1	-	0	386	c.309G>A	c.(307-309)cgG>cgA	p.R103R		NM_001078173	NP_001071641	Q17RB0	F127C_HUMAN	Homo sapiens family with sequence similarity 127, member C (FAM127C), mRNA.	103										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ATCCAAAGACCCGCTTCATCT	0.667													T	134156181	C	T	134156181	2	4	257	1	0	0	0	0	0	0	0	1	5478	610	22	2		2	FAM127C	23	134156181	Silent	SNP	C	TCGA-76-4925-01A-01D-1486-08	32151776	134156181	21114379	75	18041											
ATAD3B	83858	broad.mit.edu	37	chr1	1412700	1412700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcagatgcaggagcagacGctgcagttggagcaacagtc	11	5	15	10	2	0	2	0	0	0	2	1	4	0	4	0	2	5	7	0	2	1	1	rs142559400	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:1412700G>A	uc001afv.3	+	1	353	c.252G>A	c.(250-252)acG>acA	p.T84T	ATAD3B_uc001afw.2_5'Flank|ATAD3B_uc001afx.3_5'Flank	NM_031921	NP_114127	Q5T9A4	ATD3B_HUMAN	Homo sapiens ATPase family, AAA domain containing 3B (ATAD3B), nuclear gene encoding mitochondrial protein, mRNA.	84							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGGAGCAGACGCTGCAGTTGG	0.632													A	1412700	G	A	1412700	2	1	258	1	0	0	0	0	0	0	0	1	1079	1074	38	1		1	ATAD3B	1	1412700	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08		1412700	247837921	1	18042											
MMEL1	79258	broad.mit.edu	37	chr1	2524281	2524281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgctcacgttctgttcGtctgccaggtcccaggagta	6	10	12	13	3	3	0	1	0	2	0	5	1	4	1	2	2	2	5	2	2	1	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:2524281G>A	uc001ajy.2	-	19	2206	c.1992C>T	c.(1990-1992)gaC>gaT	p.D664D	MMEL1_uc009vlg.1_Non-coding_Transcript	NM_033467	NP_258428	Q495T6	MMEL1_HUMAN	Homo sapiens membrane metallo-endopeptidase-like 1 (MMEL1), mRNA.	664					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CGTTCTGTTCGTCTGCCAGGT	0.637													A	2524281	G	A	2524281	2	1	258	1	0	0	0	0	0	0	0	1	9721	1136	40	1		1	MMEL1	1	2524281	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	1111581	2524281	246726340	2	18043											
PLEKHM2	23207	broad.mit.edu	37	chr1	16044415	16044415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctgtacctggccctcaAcgagaactccttggagagct	8	9	11	13	1	1	2	1	0	0	2	2	4	2	2	3	3	4	3	3	3	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:16044415A>G	uc010obo.2	+	3	532	c.305A>G	c.(304-306)aAc>aGc	p.N102S		NM_015164	NP_055979	Q8IWE5	PKHM2_HUMAN	Homo sapiens pleckstrin homology domain containing, family M (with RUN domain) member 2 (PLEKHM2), mRNA.	102	Interaction with KIF5B.|RUN.				Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		CTGGCCCTCAACGAGAACTCC	0.572													G	16044415	A	G	16044415	3	3	258	1	0	0	0	0	1	0	0	0	12158	43	2	3	319	3	PLEKHM2	1	16044415	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	13520134	16044415	233206206	3	18044											
ZSWIM5	57643	broad.mit.edu	37	chr1	45508897	45508897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctagacttaccaagccAcagtggctggccttgggaat	10	8	13	10	0	0	1	0	0	0	1	0	2	0	2	3	4	2	2	3	4	4	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:45508897A>G	uc001cnd.2	-	5	1831	c.1603T>C	c.(1603-1605)Tgg>Cgg	p.W535R		NM_020883	NP_065934	Q9P217	ZSWM5_HUMAN	Homo sapiens zinc finger, SWIM-type containing 5 (ZSWIM5), mRNA.	535							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TTACCAAGCCACAGTGGCTGG	0.488													G	45508897	A	G	45508897	3	3	258	1	0	0	0	0	1	0	0	0	18341	159	6	3	1990	3	ZSWIM5	1	45508897	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	29464482	45508897	203741724	4	18045											
VPS45	11311	broad.mit.edu	37	chr1	150049176	150049176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttttaacaaaaagggtcGaaattgggatccagcccagc	13	10	10	8	1	0	0	0	0	0	0	2	2	1	1	2	2	3	1	2	2	4	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:150049176G>A	uc001etp.3	+	5	1016	c.443G>A	c.(442-444)cGa>cAa	p.R148Q	VPS45_uc010pbp.1_Intron|VPS45_uc010pbq.2_Missense_Mutation_p.R112Q|VPS45_uc010pbs.2_Intron|VPS45_uc001etq.3_5'Flank|VPS45_uc009wlm.1_Intron|VPS45_uc010pbr.1_Missense_Mutation_p.R112Q	NM_007259	NP_009190	Q9NRW7	VPS45_HUMAN	Homo sapiens vacuolar protein sorting 45 homolog (S. cerevisiae) (VPS45), mRNA.	148					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAAAGGGTCGAAATTGGGAT	0.353													A	150049176	G	A	150049176	3	1	258	1	0	0	0	0	1	0	0	0	17313	1058	37	1	465	1	VPS45	1	150049176	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	104540279	150049176	99201445	5	18046											
KPRP	448834	broad.mit.edu	37	chr1	152733551	152733551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgcagggagacttggcGcagccccagcccatgctggg	6	5	15	15	1	0	1	0	0	0	1	0	2	0	1	4	3	4	3	4	3	0	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:152733551G>A	uc001fal.1	+	1	1545	c.1487G>A	c.(1486-1488)cGc>cAc	p.R496H	KPRP_uc021ozf.1_Missense_Mutation_p.R496H	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	496	Pro-rich.					cytoplasm		p.R496H(2)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGACTTGGCGCAGCCCCAGC	0.647													A	152733551	G	A	152733551	3	1	258	1	0	0	0	0	1	0	0	0	8494	1087	38	1	1489	1	KPRP	1	152733551	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	2684375	152733551	96517070	6	18047											
KIF26B	55083	broad.mit.edu	37	chr1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagattctggaacaccGccagcagaggatcgccgagg	11	5	14	11	3	1	3	0	1	1	2	2	6	1	5	3	3	2	2	3	3	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:245862232G>A	uc001ibf.1	+	13	6511	c.6071G>A	c.(6070-6072)cGc>cAc	p.R2024H		NM_018012	NP_060482	Q2KJY2	KI26B_HUMAN	Homo sapiens kinesin family member 26B (KIF26B), mRNA.	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(2)|p.H2023Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													A	245862232	G	A	245862232	3	1	258	1	0	0	0	0	1	0	0	0	8353	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	93128681	245862232	3388389	7	18048											
OR2W3	343171	broad.mit.edu	37	chr1	248059267	248059267	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccggtgtgtggctatcTgcaagcccctgcactacatg	8	10	11	12	1	1	1	0	1	1	0	1	1	1	1	3	2	4	3	3	2	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr1:248059267T>G	uc010pzb.2	+	0	379	c.379T>G	c.(379-381)Tgc>Ggc	p.C127G	OR2W3_uc001idp.1_Missense_Mutation_p.C127G	NM_001001957	NP_001001957	Q7Z3T1	OR2W3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily W, member 3 (OR2W3), mRNA.	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TGTGGCTATCTGCAAGCCCCT	0.607													G	248059267	T	G	248059267	3	3	258	1	0	0	0	0	1	0	0	0	11109	1580	55	5	381	5	OR2W3	1	248059267	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	2197035	248059267	1191354	8	18049											
TPO	7173	broad.mit.edu	37	chr2	1457495	1457495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggggcgcctccaacaCggccctggcacgatggctcc	7	5	13	16	3	0	1	0	0	0	1	2	2	2	1	4	5	1	2	4	5	1	0	rs139312937		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:1457495C>T	uc002qwr.3	+	5	598	c.512C>T	c.(511-513)aCg>aTg	p.T171M	TPO_uc010ewj.3_Intron|TPO_uc002qww.3_Missense_Mutation_p.T171M|TPO_uc002qwx.3_Missense_Mutation_p.T171M|TPO_uc002qwu.3_Missense_Mutation_p.T171M|TPO_uc010yio.2_Missense_Mutation_p.T171M|TPO_uc010yip.2_Missense_Mutation_p.T171M	NM_001206744	NP_001193673	P07202	PERT_HUMAN	Homo sapiens thyroid peroxidase (TPO), transcript variant 6, mRNA.	171					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.T171M(2)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCTCCAACACGGCCCTGGCA	0.587													T	1457495	C	T	1457495	3	4	258	1	0	0	0	0	1	0	0	0	16511	536	19	1	530	1	TPO	2	1457495	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		1457495	241741878	9	18050											
TTN	7273	broad.mit.edu	37	chr2	179438088	179438088	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatcacgccgttccacaatAtaattgatgatttcacttcc	11	15	4	11	2	2	2	2	2	0	0	4	2	4	2	3	0	0	1	3	0	4	7			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr2:179438088A>G	uc021vsy.1	-	274	65292	c.65067T>C	c.(65065-65067)taT>taC	p.Y21689Y	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Silent_p.Y15384Y|TTN_uc021vta.1_Silent_p.Y15317Y|TTN_uc021vtb.1_Silent_p.Y15192Y	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	22616	Fibronectin type-III 57.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCCACAATATAATTGATGA	0.408													G	179438088	A	G	179438088	2	3	258	1	0	0	0	0	0	0	0	1	16837	456	16	3		3	TTN	2	179438088	Silent	SNP	A	TCGA-76-4926-01B-01D-1486-08	177980593	179438088	63761285	10	18051											
CELSR3	1951	broad.mit.edu	37	chr3	48694272	48694272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgggcgggcagcggcagcGcaggccagcgatgggctgga	6	3	20	12	5	0	0	0	0	0	0	1	2	1	1	2	6	3	4	2	6	0	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr3:48694272G>A	uc003cuf.1	-	3	4468	c.4468C>T	c.(4468-4470)Cgc>Tgc	p.R1490C	CELSR3_uc003cul.3_Missense_Mutation_p.R1420C	NM_001407	NP_001398	Q9NYQ7	CELR3_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 3 (flamingo homolog, Drosophila) (CELSR3), mRNA.	1420	EGF-like 3; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGCGGCAGCGCAGGCCAGCG	0.672													A	48694272	G	A	48694272	3	1	258	1	0	0	0	0	1	0	0	0	3253	1087	38	1	5816	1	CELSR3	3	48694272	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		48694272	149328158	11	18052											
LRRC66	339977	broad.mit.edu	37	chr4	52862310	52862310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatcctgctctggggagtgCccccgttggcctcctcactc	5	10	10	16	1	2	0	1	0	1	0	5	1	4	1	5	3	2	2	5	3	1	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:52862310C>A	uc003gzi.3	-	3	885	c.878G>T	c.(877-879)gGc>gTc	p.G293V		NM_001024611	NP_001019782	Q68CR7	LRC66_HUMAN	Homo sapiens leucine rich repeat containing 66 (LRRC66), mRNA.	293						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CTGGGGAGTGCCCCCGTTGGC	0.483													A	52862310	C	A	52862310	3	1	258	1	0	0	0	0	1	0	0	0	9088	739	26	4	1768	4	LRRC66	4	52862310	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		52862310	138291966	12	18053											
FRAS1	80144	broad.mit.edu	37	chr4	79421050	79421050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgtggattattacccaaaGagccgagtcttgaagttcag	11	11	12	7	1	2	2	1	1	1	1	2	4	2	3	2	2	2	1	2	2	4	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:79421050G>A	uc003hlb.2	+	60	9731	c.9291G>A	c.(9289-9291)aaG>aaA	p.K3097K	FRAS1_uc003hlc.1_Silent_p.K99K	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	3092	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATTACCCAAAGAGCCGAGTCT	0.483													A	79421050	G	A	79421050	2	1	258	1	0	0	0	0	0	0	0	1	6093	933	33	2		2	FRAS1	4	79421050	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	26558740	79421050	111733226	13	18054											
PRKG2	5593	broad.mit.edu	37	chr4	82126062	82126062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcaaatggtactccCgctcctggatctcagcatcc	7	11	7	16	1	2	0	2	0	1	0	7	1	6	1	4	2	2	4	4	2	2	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:82126062C>T	uc003hmh.2	-	0	153	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	PRKG2_uc011cch.1_Missense_Mutation_p.R47Q	NM_006259	NP_006250	Q13237	KGP2_HUMAN	Homo sapiens protein kinase, cGMP-dependent, type II (PRKG2), mRNA.	47					platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						ATGGTACTCCCGCTCCTGGAT	0.557													T	82126062	C	T	82126062	3	4	258	1	0	0	0	0	1	0	0	0	12609	652	23	1	2220	1	PRKG2	4	82126062	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	2705012	82126062	109028214	14	18055											
RXFP1	59350	broad.mit.edu	37	chr4	159533468	159533468	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagataatcacctcagtCgaatttccccaccaacattt	13	12	4	12	1	2	2	2	1	0	1	4	3	3	2	4	0	1	0	4	0	4	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr4:159533468C>T	uc003ipz.3	+	7	897	c.634C>T	c.(634-636)Cga>Tga	p.R212*	RXFP1_uc010iqj.2_Nonsense_Mutation_p.R41*|RXFP1_uc010iqk.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cja.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iqo.3_Nonsense_Mutation_p.R212*|RXFP1_uc011cjb.2_Nonsense_Mutation_p.R158*|RXFP1_uc011cjc.2_Nonsense_Mutation_p.R131*|RXFP1_uc011cjd.2_Nonsense_Mutation_p.R131*|RXFP1_uc010iql.3_Nonsense_Mutation_p.R80*|RXFP1_uc011cje.2_Nonsense_Mutation_p.R239*|RXFP1_uc010iqm.3_Nonsense_Mutation_p.R179*|RXFP1_uc011cjf.2_Nonsense_Mutation_p.R82*|RXFP1_uc010iqn.3_Nonsense_Mutation_p.R158*	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	212						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		TCACCTCAGTCGAATTTCCCC	0.294													T	159533468	C	T	159533468	4	4	258	1	0	0	0	0	0	1	0	0	13850	876	31	1	664	1	RXFP1	4	159533468	Nonsense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	77407406	159533468	31620808	15	18056											
SLC6A18	348932	broad.mit.edu	37	chr5	1244838	1244838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggcttacatcatcctcCtgttctggaagccactgaga	8	13	9	11	0	2	1	1	1	1	1	4	3	4	2	3	2	2	2	3	2	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:1244838C>T	uc003jby.2	+	10	1735	c.1612C>T	c.(1612-1614)Ctg>Ttg	p.L538L		NM_182632	NP_872438	Q96N87	S6A18_HUMAN	Homo sapiens solute carrier family 6, member 18 (SLC6A18), mRNA.	538					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CATCATCCTCCTGTTCTGGAA	0.617													T	1244838	C	T	1244838	2	4	258	1	0	0	0	0	0	0	0	1	14775	680	24	2		2	SLC6A18	5	1244838	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08		1244838	179670422	16	18057											
NSUN2	54888	broad.mit.edu	37	chr5	6622137	6622137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaatgcatacctggaaagGggacattcatgtcggcatgt	11	10	11	9	1	1	0	1	0	0	0	3	2	2	2	2	4	2	2	2	4	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:6622137G>A	uc003jdu.3	-	5	995	c.614C>T	c.(613-615)cCc>cTc	p.P205L	NSUN2_uc003jdt.3_5'Flank|NSUN2_uc011cmk.2_Missense_Mutation_p.P170L|NSUN2_uc003jdv.3_Intron	NM_017755	NP_060225	Q08J23	NSUN2_HUMAN	Homo sapiens NOP2/Sun domain family, member 2 (NSUN2), transcript variant 1, mRNA.	205						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding	p.V204A(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						ACCTGGAAAGGGGACATTCAT	0.413													A	6622137	G	A	6622137	3	1	258	1	0	0	0	0	1	0	0	0	10754	1232	43	2	1745	2	NSUN2	5	6622137	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	5377299	6622137	174293123	17	18058											
UTP15	84135	broad.mit.edu	37	chr5	72866479	72866480	+	Nonsense_Mutation	DNP	GG	GG	TA																															gtgttctctccgttgagcatGggcagccagtggagagtgtc																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:72866479_72866480GG>TA	uc003kcw.1	+	5	839_840	c.616_617GG>TA	c.(616-618)ggg>TAg	p.G206*	UTP15_uc011cso.1_Nonsense_Mutation_p.G187*|UTP15_uc011csp.1_Nonsense_Mutation_p.G16*|UTP15_uc010ize.1_Nonsense_Mutation_p.G206*	NM_032175	NP_115551	Q8TED0	UTP15_HUMAN	Homo sapiens UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae) (UTP15), mRNA.	206					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		CGTTGAGCATGGGCAGCCAGTG	0.401													TA	72866480	GG	TA	72866479	4	4	258	1	0	0	0	0	0	1	0	0	17199	1348	47	4	634	4	UTP15	5	72866479	Nonsense_Mutation	DNP	GG	TCGA-76-4926-01B-01D-1486-08	66244342	72866479	108048781	18	18059											
CMYA5	202333	broad.mit.edu	37	chr5	79026182	79026182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttagtagaagaagagatcGtagaacttgattacccagaa	17	10	9	5	1	0	6	0	1	0	5	1	7	0	6	1	0	2	2	1	0	8	6			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:79026182G>A	uc003kgc.3	+	1	1666	c.1594G>A	c.(1594-1596)Gta>Ata	p.V532I		NM_153610	NP_705838	Q8N3K9	CMYA5_HUMAN	Homo sapiens cardiomyopathy associated 5 (CMYA5), mRNA.	532	Glu-rich.					perinuclear region of cytoplasm		p.I531I(1)		NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AGAAGAGATCGTAGAACTTGA	0.418													A	79026182	G	A	79026182	3	1	258	1	0	0	0	0	1	0	0	0	3621	1145	40	1	1600	1	CMYA5	5	79026182	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	6159703	79026182	101889078	19	18060											
PCDHGC5	56114	broad.mit.edu	37	chr5	140712004	140712004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcccctctccgcagagcccGgctacctggtgaccaaggtg	6	6	12	17	3	1	2	0	1	1	1	2	2	1	2	6	3	2	2	6	3	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr5:140712004G>A	uc003lji.2	+	0	1753	c.1753G>A	c.(1753-1755)Ggc>Agc	p.G585S	PCDHGC5_uc011dan.2_Missense_Mutation_p.G585S	NM_018912	NP_061735	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 1 (PCDHGA1), transcript variant 1, mRNA.	586	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCAGAGCCCGGCTACCTGGT	0.677													A	140712004	G	A	140712004	3	1	258	1	0	0	0	0	1	0	0	0	11647	1116	39	1		1	PCDHGC5	5	140712004	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	61685822	140712004	40203256	20	18061											
BTN1A1	696	broad.mit.edu	37	chr6	26508920	26508920	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtggaggtgggagacAggactgactgggcaatcggc	9	5	21	6	1	0	2	0	1	0	1	1	6	0	5	0	8	0	1	0	8	1	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:26508920A>C	uc003nif.4	+	6	1156	c.1099A>C	c.(1099-1101)Agg>Cgg	p.R367R		NM_001732	NP_001723	Q13410	BT1A1_HUMAN	Homo sapiens butyrophilin, subfamily 1, member A1 (BTN1A1), mRNA.	367	B30.2/SPRY.					extracellular region|integral to plasma membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(1)	26						GGTGGGAGACAGGACTGACTG	0.532													C	26508920	A	C	26508920	2	2	258	1	0	0	0	0	0	0	0	1	1569	179	7	5		5	BTN1A1	6	26508920	Silent	SNP	A	TCGA-76-4926-01B-01D-1486-08		26508920	144606147	21	18062											
KCTD20	222658	broad.mit.edu	37	chr6	36437942	36437942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagctgcttagtggatgAtactttagctgtagcccaag	9	11	12	9	0	0	1	0	1	0	0	0	2	0	2	2	2	5	4	2	2	5	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:36437942A>G	uc003ome.3	+	1	459	c.68A>G	c.(67-69)gAt>gGt	p.D23G	KCTD20_uc011dtn.2_5'UTR|KCTD20_uc010jwk.3_Missense_Mutation_p.D23G|KCTD20_uc011dto.2_Intron|KCTD20_uc011dtm.2_5'UTR	NM_173562	NP_775833	Q7Z5Y7	KCD20_HUMAN	Homo sapiens potassium channel tetramerisation domain containing 20 (KCTD20), mRNA.	23						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|skin(1)	15						TTAGTGGATGATACTTTAGCT	0.473													G	36437942	A	G	36437942	3	3	258	1	0	0	0	0	1	0	0	0	8166	333	12	3	70	3	KCTD20	6	36437942	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	9929022	36437942	134677125	22	18063											
TFAP2D	83741	broad.mit.edu	37	chr6	50740520	50740520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaactcggagaaagctccCctgcggaaaacttcagaggc	12	5	11	13	2	1	2	1	0	0	2	3	4	2	3	3	3	4	1	3	3	4	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:50740520C>T	uc003paf.3	+	7	1814	c.1302C>T	c.(1300-1302)ccC>ccT	p.P434P	TFAP2D_uc011dwt.2_Non-coding_Transcript	NM_172238	NP_758438	Q7Z6R9	AP2D_HUMAN	Homo sapiens transcription factor AP-2 delta (activating enhancer binding protein 2 delta) (TFAP2D), mRNA.	434							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AGAAAGCTCCCCTGCGGAAAA	0.483													T	50740520	C	T	50740520	2	4	258	1	0	0	0	0	0	0	0	1	15890	610	22	2		2	TFAP2D	6	50740520	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	14302578	50740520	120374547	23	18064											
IBTK	25998	broad.mit.edu	37	chr6	82924063	82924066	+	Frame_Shift_Del	DEL	ACTA	ACTA	-																															ggtttgctcttctgcctctcActaactgtttgagcttgatt																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr6:82924063_82924066delACTA	uc003pjl.1	-	11	2609_2612	c.2082_2085delTAGT	c.(2080-2085)gttagtfs	p.V694fs	IBTK_uc011dyv.1_Frame_Shift_Del_p.V694fs|IBTK_uc011dyw.1_Intron|IBTK_uc010kbi.1_Frame_Shift_Del_p.V388fs|IBTK_uc003pjm.2_Frame_Shift_Del_p.V694fs	NM_015525	NP_056340	Q9P2D0	IBTK_HUMAN	Homo sapiens inhibitor of Bruton agammaglobulinemia tyrosine kinase (IBTK), mRNA.	694					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TCTGCCTCTCACTAACTGTTTGAG	0.338													-	82924066	ACTA	-	82924063	7	5	258	1	0	1	0	1	0	0	0	0	7534	156	6	0	2048	0	IBTK	6	82924063	Frame_Shift_Del	DEL	ACTA	TCGA-76-4926-01B-01D-1486-08	32183543	82924063	88191004	24	18065											
HDAC9	9734	broad.mit.edu	37	chr7	18624954	18624954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagcccatctcacctttaGacctaaggacagacctcagg	11	8	9	13	0	2	2	2	0	1	2	3	4	2	4	4	3	1	0	4	3	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:18624954G>A	uc003sui.3	+	1	114	c.73G>A	c.(73-75)Gac>Aac	p.D25N	HDAC9_uc003sue.3_Missense_Mutation_p.D25N|HDAC9_uc011jyd.2_Missense_Mutation_p.D25N|HDAC9_uc003suh.3_Missense_Mutation_p.D25N|HDAC9_uc003suj.3_Missense_Mutation_p.D25N|HDAC9_uc011jya.2_Missense_Mutation_p.D67N|HDAC9_uc003sua.1_Missense_Mutation_p.D44N|HDAC9_uc003sud.2_Missense_Mutation_p.D25N|HDAC9_uc011jyc.2_Missense_Mutation_p.D25N|HDAC9_uc011jyb.2_Missense_Mutation_p.D25N|HDAC9_uc003suf.2_Missense_Mutation_p.D53N|HDAC9_uc010kud.2_Missense_Mutation_p.D25N|HDAC9_uc011jye.2_5'UTR|HDAC9_uc011jyf.2_5'UTR	NM_178425	NP_848512	Q9UKV0	HDAC9_HUMAN	Homo sapiens histone deacetylase 9 (HDAC9), transcript variant 5, mRNA.	25	Interaction with CTBP1 (By similarity).				B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	CTCACCTTTAGACCTAAGGAC	0.498													A	18624954	G	A	18624954	3	1	258	1	0	0	0	0	1	0	0	0	7069	942	33	2	79	2	HDAC9	7	18624954	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		18624954	140513709	25	18066											
BMPER	168667	broad.mit.edu	37	chr7	34118619	34118619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgaagaacgacgcccGccggacacgctccttctcgt	7	7	12	15	6	1	2	0	1	1	1	3	4	2	3	3	2	1	2	3	2	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:34118619G>A	uc011kap.2	+	12	1603	c.1229G>A	c.(1228-1230)cGc>cAc	p.R410H		NM_133468	NP_597725	Q8N8U9	BMPER_HUMAN	Homo sapiens BMP binding endothelial regulator (BMPER), mRNA.	410	VWFD.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						AACGACGCCCGCCGGACACGC	0.622													A	34118619	G	A	34118619	3	1	258	1	0	0	0	0	1	0	0	0	1474	1087	38	1	1275	1	BMPER	7	34118619	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	15493665	34118619	125020044	26	18067											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	258	1	0	0	0	0	1	0	0	0	5006	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	21101655	55220274	103918389	27	18068											
NSUN5	55695	broad.mit.edu	37	chr7	72722785	72722785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgcagcatacagcccCatgttcccgcgcgcctttac	7	8	9	17	3	0	0	0	0	0	0	1	0	1	0	4	0	6	5	4	0	2	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:72722785C>T	uc003txw.3	-	0	80	c.3G>A	c.(1-3)atG>atA	p.M1I	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Missense_Mutation_p.M1I|NSUN5_uc003txv.3_Missense_Mutation_p.M1I|NSUN5_uc003txx.3_Missense_Mutation_p.M1I	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	1							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				CATACAGCCCCATGTTCCCGC	0.657													T	72722785	C	T	72722785	3	4	258	1	0	0	0	0	1	0	0	0	10757	594	21	2	1458	2	NSUN5	7	72722785	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	17502511	72722785	86415878	28	18069											
OR2A5	393046	broad.mit.edu	37	chr7	143748358	143748359	+	Frame_Shift_Ins	INS	-	-	A																															acccgatgctgaaccccttgINSatctatagcctgaggaacgc																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr7:143748358_143748359insA	uc011ktw.2	+	0	864_865	c.864_865insA	c.(862-867)ttgatcfs	p.L288fs		NM_012365	NP_036497	Q96R48	OR2A5_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 5 (OR2A5), mRNA.	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TGAACCCCTTGATCTATAGCCT	0.525													A	143748359	-	A	143748358	7	5	258	1	0	1	1	0	0	0	0	0	11057	1281	45	0	866	0	OR2A5	7	143748358	Frame_Shift_Ins	INS	-	TCGA-76-4926-01B-01D-1486-08	71025573	143748358	15390305	29	18070											
NEFM	4741	broad.mit.edu	37	chr8	24775980	24775980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggggagatggtgctaccaAatacatcactaaatctgtaa	14	9	11	7	0	2	1	1	0	1	1	2	2	2	1	1	4	3	2	1	4	6	4	rs145571992		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:24775980A>G	uc003xed.4	+	2	2645	c.2612A>G	c.(2611-2613)aAa>aGa	p.K871R	NEFM_uc011lac.1_Missense_Mutation_p.K653R|NEFM_uc010lue.3_Missense_Mutation_p.K495R	NM_005382	NP_005373	P07197	NFM_HUMAN	Homo sapiens neurofilament, medium polypeptide (NEFM), transcript variant 1, mRNA.	871	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGTGCTACCAAATACATCACT	0.428													G	24775980	A	G	24775980	3	3	258	1	0	0	0	0	1	0	0	0	10392	14	1	3	2622	3	NEFM	8	24775980	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08		24775980	121588042	30	18071											
RB1CC1	9821	broad.mit.edu	37	chr8	53570293	53570293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatagtttcaaaatcaaacGtatgtgcatcaatactatct	16	13	5	7	1	4	0	3	0	1	0	4	1	4	0	0	0	3	3	0	0	9	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:53570293G>A	uc003xre.4	-	14	2654	c.2096C>T	c.(2095-2097)aCg>aTg	p.T699M	RB1CC1_uc003xrf.4_Missense_Mutation_p.T699M	NM_014781	NP_055596	Q8TDY2	RBCC1_HUMAN	Homo sapiens RB1-inducible coiled-coil 1 (RB1CC1), transcript variant 1, mRNA.	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				AAAATCAAACGTATGTGCATC	0.398													A	53570293	G	A	53570293	3	1	258	1	0	0	0	0	1	0	0	0	13187	1145	40	1	2728	1	RB1CC1	8	53570293	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	28794313	53570293	92793729	31	18072											
RIMS2	9699	broad.mit.edu	37	chr8	104898339	104898339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcataaatcaaagaaaggCggtaaaatgcgccagatttc	16	8	8	9	2	2	2	2	0	0	2	3	2	2	2	2	2	1	1	2	2	6	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:104898339C>T	uc003yls.3	+	1	1087	c.846C>T	c.(844-846)ggC>ggT	p.G282G	RIMS2_uc003ylp.3_Silent_p.G504G|RIMS2_uc003ylw.2_Silent_p.G312G|RIMS2_uc003ylq.3_Silent_p.G312G|RIMS2_uc003ylr.3_Silent_p.G312G	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	535					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CAAAGAAAGGCGGTAAAATGC	0.433										HNSCC(12;0.0054)			T	104898339	C	T	104898339	2	4	258	1	0	0	0	0	0	0	0	1	13459	755	27	1		1	RIMS2	8	104898339	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	51328046	104898339	41465683	32	18073											
RIMS2	9699	broad.mit.edu	37	chr8	105257209	105257209	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaggcctggccgtggaaAtgaggaactggatgactcga	13	6	14	8	2	0	2	0	2	0	0	1	6	0	5	2	5	2	0	2	5	3	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:105257209A>T	uc003yls.3	+	23	3695	c.3454A>T	c.(3454-3456)Atg>Ttg	p.M1152L	RIMS2_uc003ylp.3_Missense_Mutation_p.M1134L|RIMS2_uc003ylw.2_Missense_Mutation_p.M1141L|RIMS2_uc003ylq.3_Missense_Mutation_p.M948L|RIMS2_uc003ylr.3_Missense_Mutation_p.M973L	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1196					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GGCCGTGGAAATGAGGAACTG	0.473										HNSCC(12;0.0054)			T	105257209	A	T	105257209	3	4	258	1	0	0	0	0	1	0	0	0	13459	101	4	5	3674	5	RIMS2	8	105257209	Missense_Mutation	SNP	A	TCGA-76-4926-01B-01D-1486-08	358870	105257209	41106813	33	18074											
TG	7038	broad.mit.edu	37	chr8	134107297	134107297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcttccagggaggctccGcactctccccggccgccgtc	3	9	10	19	4	2	0	0	0	2	0	7	1	4	1	6	3	0	2	6	3	0	2	rs139465983	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:134107297G>A	uc003ytw.3	+	41	7290	c.7249G>A	c.(7249-7251)Gca>Aca	p.A2417T	TG_uc010mdw.3_Missense_Mutation_p.A1176T|TG_uc011ljb.2_Missense_Mutation_p.A786T|TG_uc011ljc.2_Missense_Mutation_p.A550T|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2417					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GGGAGGCTCCGCACTCTCCCC	0.587													A	134107297	G	A	134107297	3	1	258	1	0	0	0	0	1	0	0	0	15913	1087	38	1	7415	1	TG	8	134107297	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	28850088	134107297	12256725	34	18075											
CYP11B2	1585	broad.mit.edu	37	chr8	143999226	143999226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccagggcgctgccaCgcacacctctgcctttgccc	6	6	11	18	2	1	0	0	0	1	0	1	1	1	1	5	2	4	2	5	2	0	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:143999226C>T	uc003yxk.1	-	0	34	c.31G>A	c.(31-33)Gtg>Atg	p.V11M		NM_000498	NP_000489	P19099	C11B2_HUMAN	Homo sapiens cytochrome P450, family 11, subfamily B, polypeptide 2 (CYP11B2), nuclear gene encoding mitochondrial protein, mRNA.	11					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	GGCGCTGCCACGCACACCTCT	0.612									Familial Hyperaldosteronism type I				T	143999226	C	T	143999226	3	4	258	1	0	0	0	0	1	0	0	0	4179	536	19	1	1516	1	CYP11B2	8	143999226	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	9891929	143999226	2364796	35	18076											
RECQL4	9401	broad.mit.edu	37	chr8	145737371	145737371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcttcctcaaagtagcGgccgagcaggtccttgagcc	7	10	10	14	2	2	1	1	1	1	0	5	2	5	1	5	2	3	2	5	2	2	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr8:145737371G>A	uc003zdj.3	-	19	3358	c.3316C>T	c.(3316-3318)Cgc>Tgc	p.R1106C		NM_004260	NP_004251	O94761	RECQ4_HUMAN	Homo sapiens RecQ protein-like 4 (RECQL4), mRNA.	1106			R -> H (in dbSNP:rs34236392).		DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TCAAAGTAGCGGCCGAGCAGG	0.677			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				A	145737371	G	A	145737371	3	1	258	1	0	0	0	0	1	0	0	0	13290	1116	39	1	322	1	RECQL4	8	145737371	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	1738145	145737371	626651	36	18077											
BNC2	54796	broad.mit.edu	37	chr9	16435843	16435843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctcatgtaaaacatgtcGtaagtggggtctgtaaattc	11	13	11	6	1	2	0	1	0	1	0	4	0	2	0	0	3	1	4	0	3	5	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:16435843G>A	uc003zml.3	-	5	2489	c.2349C>T	c.(2347-2349)taC>taT	p.Y783Y	BNC2_uc011lmw.2_Silent_p.Y688Y|BNC2_uc003zmm.3_Silent_p.Y741Y|BNC2_uc003zmq.1_Silent_p.Y797Y|BNC2_uc003zmr.1_Silent_p.Y820Y|BNC2_uc003zmp.1_Silent_p.Y811Y|BNC2_uc010mij.1_Silent_p.Y705Y|BNC2_uc011lmv.2_Silent_p.Y609Y|BNC2_uc003zmo.1_Silent_p.Y705Y|BNC2_uc003zmj.3_Silent_p.Y548Y|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.Y548Y|BNC2_uc003zmn.1_Silent_p.Y548Y	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	783					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		AAAACATGTCGTAAGTGGGGT	0.493													A	16435843	G	A	16435843	2	1	258	1	0	0	0	0	0	0	0	1	1481	1140	40	1		1	BNC2	9	16435843	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08		16435843	124777588	37	18078											
PGM5	5239	broad.mit.edu	37	chr9	71098902	71098902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagccatgtctacagcGtggcgaagacggatagtttt	9	10	15	7	3	1	1	0	0	1	1	1	4	1	3	1	4	3	1	1	4	3	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:71098902G>A	uc004agr.3	+	8	1646	c.1417G>A	c.(1417-1419)Gtg>Atg	p.V473M		NM_021965	NP_068800	Q15124	PGM5_HUMAN	Homo sapiens phosphoglucomutase 5 (PGM5), mRNA.	473					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TGTCTACAGCGTGGCGAAGAC	0.502													A	71098902	G	A	71098902	3	1	258	1	0	0	0	0	1	0	0	0	11878	1145	40	1	1451	1	PGM5	9	71098902	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	54663059	71098902	70114529	38	18079											
NACC2	138151	broad.mit.edu	37	chr9	138903727	138903727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcggagcccatgaccgtgcGgtacatctccacgccctccg	6	6	12	17	5	1	1	0	1	1	0	3	2	2	2	5	3	3	1	5	3	1	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:138903727G>A	uc004cgv.4	-	5	1555	c.1399C>T	c.(1399-1401)Cgc>Tgc	p.R467C	NACC2_uc010nbh.3_Missense_Mutation_p.R106C	NM_144653	NP_653254	Q96BF6	NACC2_HUMAN	Homo sapiens NACC family member 2, BEN and BTB (POZ) domain containing (NACC2), mRNA.	467					negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization	nuclear body				endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5						ATGACCGTGCGGTACATCTCC	0.697													A	138903727	G	A	138903727	3	1	258	1	0	0	0	0	1	0	0	0	10212	1116	39	1	368	1	NACC2	9	138903727	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	67804825	138903727	2309704	39	18080											
CACNA1B	774	broad.mit.edu	37	chr9	141012523	141012523	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagatccctgtggggcggtCaggagcactggtgagcactc	8	7	16	10	1	1	2	1	1	0	1	3	4	2	3	1	5	2	2	1	5	0	0			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr9:141012523C>G	uc004cog.3	+	41	6042	c.5897C>G	c.(5896-5898)tCa>tGa	p.S1966*	CACNA1B_uc022bqn.1_Nonsense_Mutation_p.S1966*|CACNA1B_uc004coi.3_Nonsense_Mutation_p.S1180*	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	1968					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GTGGGGCGGTCAGGAGCACTG	0.637													G	141012523	C	G	141012523	4	3	258	1	0	0	0	0	0	1	0	0	2565	838	29	4	6069	4	CACNA1B	9	141012523	Nonsense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	2108796	141012523	200908	40	18081											
ARHGAP21	57584	broad.mit.edu	37	chr10	24893240	24893240	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagaaacactctaataccaaCcttgattcccttcagactag	14	11	4	12	0	2	3	1	1	1	2	3	3	3	3	3	0	3	0	3	0	6	7			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893240C>T	uc001isb.2	-	12	3208	c.2721_splice	c.e12+1	p.K907_splice	ARHGAP21_uc010qdb.1_Splice_Site|ARHGAP21_uc009xkl.1_Splice_Site_p.K907_splice|ARHGAP21_uc010qdc.1_Splice_Site_p.K742_splice	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	906					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTAATACCAACCTTGATTCCC	0.279													T	24893240	C	T	24893240	5	4	258	1	0	0	0	0	0	0	1	0	874	521	18	2	3214	2	ARHGAP21	10	24893240	Splice_Site	SNP	C	TCGA-76-4926-01B-01D-1486-08		24893240	110641507	41	18082			1	40		2	2	13	N	T_C	2.790953e-05
ARHGAP21	57584	broad.mit.edu	37	chr10	24893252	24893252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaaccttgattccctTcagactagatacgtgcttaa	13	12	5	11	1	1	3	1	1	0	2	2	3	2	3	3	0	4	1	3	0	6	7			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr10:24893252T>C	uc001isb.2	-	11	3197	c.2710A>G	c.(2710-2712)Aag>Gag	p.K904E	ARHGAP21_uc010qdb.1_Non-coding_Transcript|ARHGAP21_uc009xkl.1_Missense_Mutation_p.K904E|ARHGAP21_uc010qdc.1_Missense_Mutation_p.K739E	NM_020824	NP_065875	Q5T5U3	RHG21_HUMAN	Homo sapiens Rho GTPase activating protein 21 (ARHGAP21), mRNA.	903					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTGATTCCCTTCAGACTAGAT	0.279													C	24893252	T	C	24893252	3	2	258	1	0	0	0	0	1	0	0	0	874	1792	62	3	3226	3	ARHGAP21	10	24893252	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	12	24893252	110641495	42	18083			1	40		2	2	13	N	T_C	2.790953e-05
OR52N2	390077	broad.mit.edu	37	chr11	5842404	5842404	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacatacacatcatcgtggCcaacctttatctgctactgc	10	11	5	15	1	2	0	1	0	1	0	3	0	2	0	3	1	5	1	3	1	4	4			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:5842404C>G	uc010qzp.2	+	0	839	c.839C>G	c.(838-840)gCc>gGc	p.A280G	TRIM5_uc001mbq.1_Intron	NM_001005174	NP_001005174	Q8NGI0	O52N2_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 2 (OR52N2), mRNA.	280					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A280G(2)|p.A280A(1)		autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATCGTGGCCAACCTTTAT	0.398													G	5842404	C	G	5842404	3	3	258	1	0	0	0	0	1	0	0	0	11204	739	26	4	841	4	OR52N2	11	5842404	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		5842404	129164112	43	18084											
TPH1	7166	broad.mit.edu	37	chr11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagtccgcaaaatactttCgacgtttacggtagacattg	12	11	8	10	4	0	1	0	0	0	1	2	2	1	1	2	1	2	3	2	1	6	6			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:18051095C>T	uc001mnp.2	-	3	460	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_uc009yhe.2_Non-coding_Transcript	NM_004179	NP_004170	P17752	TPH1_HUMAN	Homo sapiens tryptophan hydroxylase 1 (TPH1), mRNA.	145					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264													T	18051095	C	T	18051095	3	4	258	1	0	0	0	0	1	0	0	0	16502	884	31	1	928	1	TPH1	11	18051095	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	12208691	18051095	116955421	44	18085											
C11orf9	745	broad.mit.edu	37	chr11	61541579	61541579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcccaagtacgtcaagaCgcccgagggcctcaagcccc	10	3	11	17	4	2	1	2	0	0	1	2	3	2	1	5	1	3	1	5	1	4	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:61541579C>G	uc001nsc.1	+	7	1352	c.1256C>G	c.(1255-1257)aCg>aGg	p.T419R	C11orf9_uc001nse.1_Missense_Mutation_p.T410R	NM_001127392	NP_001120864	Q9Y2G1	MRF_HUMAN	Homo sapiens chromosome 11 open reading frame 9 (C11orf9), transcript variant 2, mRNA.	419					central nervous system myelination|positive regulation of myelination|positive regulation of transcription, DNA-dependent	integral to membrane|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(1)	29						TACGTCAAGACGCCCGAGGGC	0.587													G	61541579	C	G	61541579	3	3	258	1	0	0	0	0	1	0	0	0	1683	536	19	4	1309	4	C11orf9	11	61541579	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	43490484	61541579	73464937	45	18086											
GPR137	56834	broad.mit.edu	37	chr11	64056613	64056613	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctctgctcttctcccAggtgccaggaccaggcggcc	5	8	10	18	1	3	0	0	0	3	0	5	1	4	1	5	4	2	1	5	4	0	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:64056613A>C	uc010rni.2	+	9	1234	c.1206_splice	c.e9-2	p.R402_splice	GPR137_uc010rnj.2_3'UTR|GPR137_uc001nzf.3_Missense_Mutation_p.Q329P|GPR137_uc001nzi.3_Missense_Mutation_p.Q379P|GPR137_uc021qkt.1_Splice_Site_p.R344_splice|KCNK4_uc009ypl.1_5'Flank|KCNK4_uc001nzj.1_5'Flank|KCNK4_uc001nzk.1_5'Flank|KCNK4_uc010rnk.1_5'Flank|KCNK4_uc001nzl.1_5'Flank|KCNK4_uc001nzm.4_5'Flank|KCNK4_uc001nzn.1_5'Flank	NM_001170726	NP_001164197	Q96N19	G137A_HUMAN	Homo sapiens G protein-coupled receptor 137 (GPR137), transcript variant 4, mRNA.	344						integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(4)|skin(1)	10						CTCTTCTCCCAGGTGCCAGGA	0.657													C	64056613	A	C	64056613	5	2	258	1	0	0	0	0	0	0	1	0	6699	202	7	5	1344	5	GPR137	11	64056613	Splice_Site	SNP	A	TCGA-76-4926-01B-01D-1486-08	2515034	64056613	70949903	46	18087											
SCN4B	6330	broad.mit.edu	37	chr11	118014756	118014756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggggtcagacttctcattCttcacagtcccctctatgag	7	14	8	12	0	5	2	3	1	3	1	7	2	6	2	2	2	0	0	2	2	1	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118014756C>T	uc001pse.3	-	2	497	c.255G>A	c.(253-255)aaG>aaA	p.K85K	SCN4B_uc010rxu.2_5'UTR|SCN4B_uc010rxv.2_Intron	NM_174934	NP_001135821	Q8IWT1	SCN4B_HUMAN	Homo sapiens sodium channel, voltage-gated, type IV, beta (SCN4B), transcript variant 1, mRNA.	85	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		ACTTCTCATTCTTCACAGTCC	0.507													T	118014756	C	T	118014756	2	4	258	1	0	0	0	0	0	0	0	1	14014	912	32	2		2	SCN4B	11	118014756	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	53958143	118014756	16991760	47	18088											
TMEM25	84866	broad.mit.edu	37	chr11	118404798	118404798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccacgggagaacatgtcCctcccgtccaaccttcagct	8	8	8	17	2	1	1	1	0	0	1	4	2	4	1	5	1	4	1	5	1	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:118404798C>T	uc001ptk.4	+	6	1065	c.891C>T	c.(889-891)tcC>tcT	p.S297S	TMEM25_uc010ryf.2_Silent_p.S200S|TMEM25_uc010rye.2_Silent_p.S297S|TMEM25_uc009zad.3_Silent_p.S253S|TMEM25_uc001pth.3_Silent_p.S253S|TMEM25_uc001pti.3_Silent_p.S149S|TMEM25_uc001ptl.2_Silent_p.S297S|TMEM25_uc001ptm.2_Silent_p.S253S	NM_001144037	NP_001137509	Q86YD3	TMM25_HUMAN	Homo sapiens transmembrane protein 25 (TMEM25), transcript variant 4, mRNA.	297						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		AGAACATGTCCCTCCCGTCCA	0.532													T	118404798	C	T	118404798	2	4	258	1	0	0	0	0	0	0	0	1	16250	610	22	2		2	TMEM25	11	118404798	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	390042	118404798	16601718	48	18089											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284455	130284455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccacttcctcctcaggtaGacagctgccttctgagcaga	8	10	8	15	0	2	3	1	1	1	2	5	3	5	3	4	1	3	3	4	1	1	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr11:130284455G>C	uc001qgg.4	-	4	1895	c.1537C>G	c.(1537-1539)Cta>Gta	p.L513V	ADAMTS8_uc001qgf.3_5'Flank	NM_007037	NP_008968	Q9UP79	ATS8_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 8 (ADAMTS8), mRNA.	513	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TCCTCAGGTAGACAGCTGCCT	0.637													C	130284455	G	C	130284455	3	2	258	1	0	0	0	0	1	0	0	0	272	933	33	4	1152	4	ADAMTS8	11	130284455	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	11879657	130284455	4722061	49	18090											
ARNTL2	56938	broad.mit.edu	37	chr12	27540171	27540171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatcctagactgcagaagGcttcttatttgtggttggat	10	15	10	6	0	1	2	0	0	1	2	2	3	2	3	1	3	1	3	1	3	5	6			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:27540171G>A	uc001rht.2	+	6	794	c.575G>A	c.(574-576)gGc>gAc	p.G192D	ARNTL2_uc001rhu.2_Missense_Mutation_p.G178D|ARNTL2_uc001rhv.2_Missense_Mutation_p.G144D|ARNTL2_uc001rhw.3_Missense_Mutation_p.G155D|ARNTL2_uc010sjp.2_Missense_Mutation_p.G155D|ARNTL2_uc009zji.2_Missense_Mutation_p.G158D	NM_020183	NP_064568	Q8WYA1	BMAL2_HUMAN	Homo sapiens aryl hydrocarbon receptor nuclear translocator-like 2 (ARNTL2), transcript variant 1, mRNA.	192	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.E191*(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ACTGCAGAAGGCTTCTTATTT	0.333													A	27540171	G	A	27540171	3	1	258	1	0	0	0	0	1	0	0	0	973	1203	42	2	601	2	ARNTL2	12	27540171	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		27540171	106311724	50	18091											
ESPL1	9700	broad.mit.edu	37	chr12	53663689	53663689	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatcaaggcatcagctgtCctgagcaagagtatggaggc	11	8	13	9	0	2	3	2	2	0	1	3	4	3	4	1	3	2	4	1	3	3	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:53663689C>T	uc001sck.2	+	2	1054	c.963C>T	c.(961-963)gtC>gtT	p.V321V	ESPL1_uc001scj.2_5'UTR	NM_012291	NP_036423	Q14674	ESPL1_HUMAN	Homo sapiens extra spindle pole bodies homolog 1 (S. cerevisiae) (ESPL1), mRNA.	321					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CATCAGCTGTCCTGAGCAAGA	0.577													T	53663689	C	T	53663689	2	4	258	1	0	0	0	0	0	0	0	1	5294	842	30	2		2	ESPL1	12	53663689	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	26123518	53663689	80188206	51	18092											
TXNRD1	7296	broad.mit.edu	37	chr12	104705084	104705084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaggcttatcaggagggcaGacttcaaaagctactaaaaa	16	9	9	7	0	2	1	2	0	0	1	2	2	2	2	0	3	2	3	0	3	8	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:104705084G>A	uc021rcx.1	+	4	453	c.431G>A	c.(430-432)aGa>aAa	p.R144K	TXNRD1_uc021rcy.1_Missense_Mutation_p.R46K|TXNRD1_uc021rcz.1_5'UTR|TXNRD1_uc021rda.1_5'UTR|TXNRD1_uc021rdb.1_5'UTR|TXNRD1_uc010swp.2_Intron|TXNRD1_uc010swq.2_Missense_Mutation_p.R44K|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Missense_Mutation_p.R60K|TXNRD1_uc001tkv.2_Non-coding_Transcript	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	144	Glutaredoxin.				cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						CAGGAGGGCAGACTTCAAAAG	0.373													A	104705084	G	A	104705084	3	1	258	1	0	0	0	0	1	0	0	0	16909	942	33	2	463	2	TXNRD1	12	104705084	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	51041395	104705084	29146811	52	18093											
AACS	65985	broad.mit.edu	37	chr12	125609456	125609457	+	Frame_Shift_Del	DEL	CA	CA	-																															tctgcaccccagtggaaaccCacagtctccagatgctccac																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr12:125609456_125609457delCA	uc001uhc.3	+	11	1401_1402	c.1195_1196delCA	c.(1195-1197)cacfs	p.H399fs	AACS_uc001uhd.3_Frame_Shift_Del_p.H399fs|AACS_uc009zyh.3_Intron|AACS_uc009zyi.3_5'UTR	NM_023928	NP_076417	Q86V21	AACS_HUMAN	Homo sapiens acetoacetyl-CoA synthetase (AACS), mRNA.	399					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		AGTGGAAACCCACAGTCTCCAG	0.505													-	125609457	CA	-	125609456	7	5	258	1	0	1	0	1	0	0	0	0	9	594	21	0	1241	0	AACS	12	125609456	Frame_Shift_Del	DEL	CA	TCGA-76-4926-01B-01D-1486-08	20904372	125609456	8242439	53	18094											
LRRC57	255252	broad.mit.edu	37	chr15	42836285	42836285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagtcctggagaacttcacGcaaacttcttcttggtggct	9	13	9	10	1	3	1	1	0	2	1	4	2	4	1	1	3	2	2	1	3	3	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:42836285G>A	uc001zqd.2	-	4	1084	c.716C>T	c.(715-717)gCg>gTg	p.A239V	LRRC57_uc001zqc.3_Missense_Mutation_p.A239V	NM_153260	NP_694992	Q8N9N7	LRC57_HUMAN	Homo sapiens leucine rich repeat containing 57 (LRRC57), mRNA.	239										breast(1)|kidney(1)|lung(5)|prostate(1)	8		all_cancers(109;1.99e-12)|all_epithelial(112;5.11e-11)|Lung NSC(122;4.53e-07)|all_lung(180;1.64e-06)|Melanoma(134;0.0262)		GBM - Glioblastoma multiforme(94;6.87e-07)		AGAACTTCACGCAAACTTCTT	0.408													A	42836285	G	A	42836285	3	1	258	1	0	0	0	0	1	0	0	0	9083	1087	38	1	7	1	LRRC57	15	42836285	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08		42836285	59695107	54	18095											
HMG20A	10363	broad.mit.edu	37	chr15	77771653	77771653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgtgaacagactcgatcGttagggaatggtgagtgctc	10	11	14	6	2	0	3	0	2	0	1	3	5	0	4	0	2	2	3	0	2	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:77771653G>A	uc002bcr.3	+	9	1241	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H	HMG20A_uc002bcs.3_Missense_Mutation_p.R347H|HMG20A_uc021sra.1_5'Flank	NM_018200	NP_060670	Q9NP66	HM20A_HUMAN	Homo sapiens high mobility group 20A (HMG20A), mRNA.	347					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.D346N(1)|p.D346Y(1)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						AGACTCGATCGTTAGGGAATG	0.368													A	77771653	G	A	77771653	3	1	258	1	0	0	0	0	1	0	0	0	7276	1145	40	1	1070	1	HMG20A	15	77771653	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	34935368	77771653	24759739	55	18096											
TMC3	342125	broad.mit.edu	37	chr15	81627093	81627093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctctagcctggatttgggGaccccagggagaggtgagct	7	9	16	9	0	1	2	0	1	1	1	1	5	1	4	3	5	3	2	3	5	1	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr15:81627093G>A	uc021ssk.1	-	20	2427	c.2427C>T	c.(2425-2427)gtC>gtT	p.V809V	TMC3_uc021ssj.1_3'UTR|TMC3_uc010blr.1_Non-coding_Transcript	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN	Homo sapiens transmembrane channel-like 3 (TMC3), mRNA.	809						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGGATTTGGGGACCCCAGGGA	0.572													A	81627093	G	A	81627093	2	1	258	1	0	0	0	0	0	0	0	1	16086	1161	41	2		2	TMC3	15	81627093	Silent	SNP	G	TCGA-76-4926-01B-01D-1486-08	3855440	81627093	20904299	56	18097											
OTOA	146183	broad.mit.edu	37	chr16	21716537	21716537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacctggaattgctggatgCcactgtggctcaagtcctgc	7	11	12	11	0	1	1	1	1	0	0	2	3	2	3	3	3	3	2	3	3	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:21716537C>T	uc002djh.3	+	10	1029	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.A264V|OTOA_uc002dji.3_Missense_Mutation_p.A19V|OTOA_uc010vbk.2_5'UTR	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	357					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TTGCTGGATGCCACTGTGGCT	0.577													T	21716537	C	T	21716537	3	4	258	1	0	0	0	0	1	0	0	0	11378	739	26	2	1116	2	OTOA	16	21716537	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		21716537	68638216	57	18098											
GDPD3	79153	broad.mit.edu	37	chr16	30123709	30123709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaacaggtcctccagaCgaaccatgcgccggtctgac	9	7	11	14	3	2	2	0	1	2	1	4	4	4	3	4	3	3	0	4	3	2	0	rs76435425		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:30123709C>T	uc002dwp.3	-	4	480	c.401G>A	c.(400-402)cGt>cAt	p.R134H	BOLA2_uc010bzb.1_Intron|GDPD3_uc002dwq.3_Missense_Mutation_p.R72H|NR_027081_uc010vei.1_5'Flank	NM_024307	NP_077283	Q7L5L3	GDPD3_HUMAN	Homo sapiens glycerophosphodiester phosphodiesterase domain containing 3 (GDPD3), mRNA.	134	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						GTCCTCCAGACGAACCATGCG	0.602											OREG0023731	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30123709	C	T	30123709	3	4	258	1	0	0	0	0	1	0	0	0	6381	536	19	1	579	1	GDPD3	16	30123709	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	8407172	30123709	60231044	58	18099											
IRF8	3394	broad.mit.edu	37	chr16	85952071	85952071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctatgggggcaagctggtggGccaggccaccaccacctgcc	7	5	14	15	0	0	0	0	0	0	0	0	0	0	0	6	5	2	2	6	5	2	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr16:85952071G>A	uc002fjh.3	+	6	707	c.650G>A	c.(649-651)gGc>gAc	p.G217D		NM_002163	NP_002154	Q02556	IRF8_HUMAN	Homo sapiens interferon regulatory factor 8 (IRF8), mRNA.	217					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AAGCTGGTGGGCCAGGCCACC	0.662													A	85952071	G	A	85952071	3	1	258	1	0	0	0	0	1	0	0	0	7894	1203	42	2	672	2	IRF8	16	85952071	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	55828362	85952071	4402682	59	18100											
SPAG5	10615	broad.mit.edu	37	chr17	26907060	26907064	+	Frame_Shift_Del	DEL	GGAAG	GGAAG	-																															tgctgtcaagatgcttcccaGgaaggtcctgtcattaggca																										TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:26907060_26907064delGGAAG	uc002hbq.3	-	15	2852_2856	c.2760_2764delCTTCC	c.(2758-2766)accttcctgfs	p.T920fs	SPAG5_uc010waq.1_Frame_Shift_Del_p.T325fs	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	920					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					ATGCTTCCCAGGAAGGTCCTGTCAT	0.507													-	26907064	GGAAG	-	26907060	7	5	258	1	0	1	0	1	0	0	0	0	15077	991	35	0	853	0	SPAG5	17	26907060	Frame_Shift_Del	DEL	GGAAG	TCGA-76-4926-01B-01D-1486-08		26907060	54288150	60	18101											
MYO18A	399687	broad.mit.edu	37	chr17	27424907	27424907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgcttcttcagtgcaTcgtactgggtctgcagaaga	8	12	10	11	1	4	2	1	0	3	2	5	2	4	2	1	1	4	4	1	1	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:27424907T>C	uc002hdt.1	-	25	4159	c.4001A>G	c.(4000-4002)gAt>gGt	p.D1334G	MYO18A_uc010wbc.1_Missense_Mutation_p.D876G|MYO18A_uc002hds.2_Missense_Mutation_p.D876G|MYO18A_uc010csa.1_Missense_Mutation_p.D1334G|MYO18A_uc002hdu.1_Missense_Mutation_p.D1334G|MYO18A_uc010wbd.1_Missense_Mutation_p.D1003G	NM_078471	NP_510880	Q92614	MY18A_HUMAN	Homo sapiens myosin XVIIIA (MYO18A), transcript variant 1, mRNA.	1334					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTTCAGTGCATCGTACTGGGT	0.542													C	27424907	T	C	27424907	3	2	258	1	0	0	0	0	1	0	0	0	10141	1435	50	3	2231	3	MYO18A	17	27424907	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	517847	27424907	53770303	61	18102											
ACE	1636	broad.mit.edu	37	chr17	61571327	61571327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcccttgacaagatcGcctttatccccttcagctac	9	11	7	14	1	1	3	1	1	0	2	3	3	2	3	4	1	2	1	4	1	3	5			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr17:61571327G>A	uc002jau.2	+	20	3215	c.3181G>A	c.(3181-3183)Gcc>Acc	p.A1061T	ACE_uc010wpj.2_Missense_Mutation_p.A487T|ACE_uc010ddv.2_Missense_Mutation_p.A288T|ACE_uc002jav.2_Missense_Mutation_p.A487T|ACE_uc002jaw.2_Non-coding_Transcript|ACE_uc010wpk.2_Missense_Mutation_p.A307T	NM_000789	NP_000780	P12821	ACE_HUMAN	Homo sapiens angiotensin I converting enzyme (peptidyl-dipeptidase A) 1 (ACE), transcript variant 1, mRNA.	1061	Peptidase M2 2.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TGACAAGATCGCCTTTATCCC	0.552													A	61571327	G	A	61571327	3	1	258	1	0	0	0	0	1	0	0	0	136	1087	38	1	3466	1	ACE	17	61571327	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	34146420	61571327	19623883	62	18103											
PHLPP1	23239	broad.mit.edu	37	chr18	60645528	60645528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagtgactgagtccacgCgcatcctgggctacaccttc	8	8	11	14	3	0	2	0	2	0	0	3	3	2	3	3	2	1	2	3	2	1	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr18:60645528C>T	uc021ule.1	+	16	4263	c.4018C>T	c.(4018-4020)Cgc>Tgc	p.R1340C		NM_194449	NP_919431	O60346	PHLP1_HUMAN	Homo sapiens PH domain and leucine rich repeat protein phosphatase 1 (PHLPP1), mRNA.	1340	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						TGAGTCCACGCGCATCCTGGG	0.582													T	60645528	C	T	60645528	3	4	258	1	0	0	0	0	1	0	0	0	11931	768	27	1	4084	1	PHLPP1	18	60645528	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		60645528	17431720	63	18104											
ATP8B3	148229	broad.mit.edu	37	chr19	1795945	1795945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaagatgaccgtgtcggCgcccttggtgtacaggcaga	8	9	14	10	4	0	3	0	1	0	2	2	4	0	3	2	3	1	2	2	3	2	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:1795945C>T	uc002ltw.3	-	17	2218	c.1984G>A	c.(1984-1986)Gcc>Acc	p.A662T	ATP8B3_uc002ltv.3_Missense_Mutation_p.A615T|ATP8B3_uc002ltx.3_Non-coding_Transcript	NM_138813	NP_620168	O60423	AT8B3_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8B, member 3 (ATP8B3), transcript variant 1, mRNA.	662					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		ACCGTGTCGGCGCCCTTGGTG	0.632											OREG0025127	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	1795945	C	T	1795945	3	4	258	1	0	0	0	0	1	0	0	0	1201	768	27	1	1996	1	ATP8B3	19	1795945	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		1795945	57333038	64	18105											
MYO9B	4650	broad.mit.edu	37	chr19	17320489	17320489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagagagtatcgccttcCgcaggctttcgctcctgcga	6	10	11	14	4	0	1	0	0	0	1	4	3	2	1	3	1	2	5	3	1	1	3			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:17320489C>T	uc010eak.3	+	35	5871	c.5719C>T	c.(5719-5721)Cgc>Tgc	p.R1907C	MYO9B_uc002nfi.3_Missense_Mutation_p.R1907C|MYO9B_uc002nfj.1_Missense_Mutation_p.R1907C|MYO9B_uc002nfm.1_Missense_Mutation_p.R67C	NM_004145	NP_004136	Q13459	MYO9B_HUMAN	Homo sapiens myosin IXB (MYO9B), transcript variant 1, mRNA.	1907	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						TATCGCCTTCCGCAGGCTTTC	0.587													T	17320489	C	T	17320489	3	4	258	1	0	0	0	0	1	0	0	0	10161	652	23	1	5857	1	MYO9B	19	17320489	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08	15524544	17320489	41808494	65	18106											
CRTC1	23373	broad.mit.edu	37	chr19	18870986	18870986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagctccagcagcacCggcaacctcgcggccaacct	9	4	10	18	3	0	1	0	1	0	0	2	1	1	1	5	2	6	5	5	2	2	0	rs140237275	byFrequency	TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:18870986C>T	uc010ebv.3	+	8	970	c.882C>T	c.(880-882)acC>acT	p.T294T	CRTC1_uc002nkb.4_Silent_p.T278T|CRTC1_uc010ebw.3_Silent_p.T143T	NM_001098482	NP_001091952	Q6UUV9	CRTC1_HUMAN	Homo sapiens CREB regulated transcription coactivator 1 (CRTC1), transcript variant 3, mRNA.	278					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						CCAGCAGCACCGGCAACCTCG	0.697													T	18870986	C	T	18870986	2	4	258	1	0	0	0	0	0	0	0	1	3930	639	23	1		1	CRTC1	19	18870986	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08	1550497	18870986	40257997	66	18107											
CD177	57126	broad.mit.edu	37	chr19	43859911	43859911	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggaccacacactgttatGatggcctcctcaggctcagg	9	8	12	12	0	2	1	2	1	0	0	3	2	3	2	3	5	0	2	3	5	1	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr19:43859911G>C	uc002owi.3	+	3	520	c.478G>C	c.(478-480)Gat>Cat	p.D160H	CD177_uc010eis.3_Non-coding_Transcript|CD177_uc002owj.3_Non-coding_Transcript	NM_020406	NP_065139	Q8N6Q3	CD177_HUMAN	Homo sapiens CD177 molecule (CD177), mRNA.	160	UPAR/Ly6 1.				blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ACACTGTTATGATGGCCTCCT	0.582													C	43859911	G	C	43859911	3	2	258	1	0	0	0	0	1	0	0	0	3001	1290	45	4	492	4	CD177	19	43859911	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	24988925	43859911	15269072	67	18108											
JAG1	182	broad.mit.edu	37	chr20	10630946	10630946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacacacacttaaatcCgttaaccaggtcctggcagg	11	7	11	12	1	0	0	0	0	0	0	2	0	2	0	3	5	1	3	3	5	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:10630946C>T	uc002wnw.2	-	8	1699	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	JAG1_uc010gcd.1_5'UTR	NM_000214	NP_000205	P78504	JAG1_HUMAN	Homo sapiens jagged 1 (JAG1), mRNA.	395	EGF-like 5; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACTTAAATCCGTTAACCAGG	0.463									Alagille Syndrome				T	10630946	C	T	10630946	3	4	258	1	0	0	0	0	1	0	0	0	7992	661	23	1	2545	1	JAG1	20	10630946	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		10630946	52394574	68	18109											
CEP250	11190	broad.mit.edu	37	chr20	34067060	34067060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcttcccctcagtcacGtcaccagcaggaggcagcca	10	7	8	16	1	4	0	3	0	1	0	5	1	5	1	4	2	2	2	4	2	0	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr20:34067060G>A	uc021wco.1	+	17	2746	c.2099G>A	c.(2098-2100)cGt>cAt	p.R700H	CEP250_uc010zve.2_Missense_Mutation_p.R68H	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	700	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CCTCAGTCACGTCACCAGCAG	0.592													A	34067060	G	A	34067060	3	1	258	1	0	0	0	0	1	0	0	0	3282	1145	40	1	2157	1	CEP250	20	34067060	Missense_Mutation	SNP	G	TCGA-76-4926-01B-01D-1486-08	23436114	34067060	28958460	69	18110											
PANX2	56666	broad.mit.edu	37	chr22	50615939	50615939	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggcgcgtccccggaCggggcggcaggtgcggggcc	2	3	22	14	7	0	0	0	0	0	0	1	1	1	1	3	8	1	2	3	8	0	0	rs35622534		TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chr22:50615939C>T	uc003bjn.4	+	1	798	c.798C>T	c.(796-798)gaC>gaT	p.D266D	PANX2_uc003bjp.4_Silent_p.D132D|PANX2_uc003bjo.4_Silent_p.D266D	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	266					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CGTCCCCGGACGGGGCGGCAG	0.692													T	50615939	C	T	50615939	2	4	258	1	0	0	0	0	0	0	0	1	11497	535	19	1		1	PANX2	22	50615939	Silent	SNP	C	TCGA-76-4926-01B-01D-1486-08		50615939	688627	70	18111											
MXRA5	25878	broad.mit.edu	37	chrX	3235282	3235282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggggaggtgcccgtgatgCgcgcgttggctgctgcacgc	3	7	19	12	6	0	1	0	1	0	0	0	2	0	2	1	4	4	4	1	4	0	1			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:3235282C>T	uc004crg.4	-	5	6597	c.6440G>A	c.(6439-6441)cGc>cAc	p.R2147H		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2147	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCCCGTGATGCGCGCGTTGGC	0.706													T	3235282	C	T	3235282	3	4	258	1	0	0	0	0	1	0	0	0	10079	768	27	1	2054	1	MXRA5	23	3235282	Missense_Mutation	SNP	C	TCGA-76-4926-01B-01D-1486-08		3235282	152035278	71	18112											
ATP11C	286410	broad.mit.edu	37	chrX	138908934	138908934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttccgaaactggatgatTgccaacaaacactgtgcgtg	11	11	10	9	2	0	1	0	1	0	0	1	3	1	2	2	1	5	1	2	1	3	2			TCGA-76-4926-01B-01D-1486-08	TCGA-76-4926-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c93cb58-d39b-4a5e-907a-8b5438630d21	ecbd11a3-9ac5-4888-9f28-f5a93f45fe50	g.chrX:138908934T>C	uc004faz.3	-	1	184	c.85A>G	c.(85-87)Aat>Gat	p.N29D	ATP11C_uc004fba.3_Missense_Mutation_p.N29D	NM_173694	NP_775965	Q8NB49	AT11C_HUMAN	Homo sapiens ATPase, class VI, type 11C (ATP11C), transcript variant 1, mRNA.	29					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					ACTGGATGATTGCCAACAAAC	0.373													C	138908934	T	C	138908934	3	2	258	1	0	0	0	0	1	0	0	0	1126	1812	63	3	3492	3	ATP11C	23	138908934	Missense_Mutation	SNP	T	TCGA-76-4926-01B-01D-1486-08	135673652	138908934	16361626	72	18113											
CAMTA1	23261	broad.mit.edu	37	chr1	7797314	7797314	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgtctccctgtcttctaGatgtgggcgtgtgccctagg	3	14	13	11	1	3	1	0	0	3	1	4	1	3	1	2	2	1	0	2	2	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:7797314G>A	uc001aoi.3	+	15	3550	c.3343_splice	c.e15-1	p.M1115_splice	CAMTA1_uc010nzv.1_Splice_Site_p.M202_splice|CAMTA1_uc001aok.4_Splice_Site_p.M158_splice|CAMTA1_uc001aoj.3_Splice_Site_p.M71_splice	NM_015215	NP_056030	Q9Y6Y1	CMTA1_HUMAN	Homo sapiens calmodulin binding transcription activator 1 (CAMTA1), transcript variant 1, mRNA.	1115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CTGTCTTCTAGATGTGGGCGT	0.557			T	WWTR1	epitheliod hemangioendothelioma								A	7797314	G	A	7797314	5	1	259	1	0	0	0	0	0	0	1	0	2639	956	33	2	3400	2	CAMTA1	1	7797314	Splice_Site	SNP	G	TCGA-76-4927-01A-01D-1486-08		7797314	241453307	1	18114											
SRGAP2	23380	broad.mit.edu	37	chr1	121116047	121116047	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgagaagatgaaggagaaGgtatgtaggctcccacagct	14	8	13	6	0	0	4	0	2	0	3	1	6	1	4	1	3	1	4	1	3	5	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:121116047G>C	uc001eis.2	+	2	281	c.213_splice	c.e2+1	p.K71_splice		NM_001042758	NP_001036223	O75044	FNBP2_HUMAN	Homo sapiens SLIT-ROBO Rho GTPase activating protein 2 (SRGAP2), transcript variant 2, mRNA.	234	FCH.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAAGGAGAAGGTATGTAGGC	0.522													C	121116047	G	C	121116047	3	2	259	1	0	0	0	0	1	0	0	0	15242	1015	35	4		4	SRGAP2	1	121116047	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	113318733	121116047	128134574	2	18115											
GJA8	2703	broad.mit.edu	37	chr1	147380445	147380445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcaggcggggactaaCggcggcccggaccagggcag	8	1	19	13	4	0	0	0	0	0	0	0	2	0	2	3	8	2	2	3	8	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:147380445C>T	uc021ovm.1	+	0	363	c.363C>T	c.(361-363)aaC>aaT	p.N121N	GJA8_uc001epu.2_Silent_p.N121N	NM_005267	NP_005258	P48165	CXA8_HUMAN	Homo sapiens gap junction protein, alpha 8, 50kDa (GJA8), mRNA.	121					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					CGGGGACTAACGGCGGCCCGG	0.657													T	147380445	C	T	147380445	2	4	259	1	0	0	0	0	0	0	0	1	6461	535	19	1		1	GJA8	1	147380445	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	26264398	147380445	101870176	3	18116											
UBAP2L	9898	broad.mit.edu	37	chr1	154207187	154207187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactatagtcggcgaCgtggtgggccaccaagacgg	11	5	15	10	4	0	2	0	0	0	2	1	4	0	2	2	4	0	0	2	4	3	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:154207187C>T	uc001fep.4	+	4	567	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	UBAP2L_uc009wot.3_Missense_Mutation_p.R134C|UBAP2L_uc010pek.2_Missense_Mutation_p.R133C|UBAP2L_uc010pel.2_Missense_Mutation_p.R133C|UBAP2L_uc021pad.1_Missense_Mutation_p.R133C|UBAP2L_uc010pem.1_Missense_Mutation_p.R133C|UBAP2L_uc010pen.2_Missense_Mutation_p.R37C	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	134					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TAGTCGGCGACGTGGTGGGCC	0.552													T	154207187	C	T	154207187	3	4	259	1	0	0	0	0	1	0	0	0	16940	536	19	1	414	1	UBAP2L	1	154207187	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	6826742	154207187	95043434	4	18117											
CACNA1S	779	broad.mit.edu	37	chr1	201058474	201058474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttgtcgaagtgggtgatgCcatggttgggccctggccag	6	10	17	8	1	0	1	0	1	0	0	1	2	0	1	3	4	1	2	3	4	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:201058474C>T	uc001gvv.3	-	5	1039	c.812G>A	c.(811-813)gGc>gAc	p.G271D		NM_000069	NP_000060	Q13698	CAC1S_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1S subunit (CACNA1S), mRNA.	271					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GTGGGTGATGCCATGGTTGGG	0.627													T	201058474	C	T	201058474	3	4	259	1	0	0	0	0	1	0	0	0	2573	739	26	2	4965	2	CACNA1S	1	201058474	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	46851287	201058474	48192147	5	18118											
SPATA17	128153	broad.mit.edu	37	chr1	217824518	217824518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaatatcaactaactgtgCaggtaaatataaaatgtaca	19	10	6	6	0	1	0	1	0	0	0	1	0	1	0	0	1	5	4	0	1	10	6			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:217824518C>A	uc001hlh.1	+	2	264	c.238C>A	c.(238-240)Cag>Aag	p.Q80K	SPATA17_uc009xdr.1_Non-coding_Transcript	NM_138796	NP_620151	Q96L03	SPT17_HUMAN	Homo sapiens spermatogenesis associated 17 (SPATA17), mRNA.	80	IQ 2.					cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		ACTAACTGTGCAGGTAAATAT	0.289													A	217824518	C	A	217824518	3	1	259	1	0	0	0	0	1	0	0	0	15098	711	25	4	248	4	SPATA17	1	217824518	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	16766044	217824518	31426103	6	18119											
DISC1	27185	broad.mit.edu	37	chr1	232144583	232144583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagctgacttggaagcttgtCgattgcttatccagagccta	10	12	10	9	1	0	2	0	1	0	1	2	4	1	3	2	1	4	3	2	1	4	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr1:232144583C>T	uc010pxh.2	+	11	2244	c.2191C>T	c.(2191-2193)Cga>Tga	p.R731*	DISC1_uc010pwl.2_Non-coding_Transcript|DISC1_uc010pxe.2_Nonsense_Mutation_p.R699*|DISC1_uc010pxf.2_Silent_p.V678V|DISC1_uc010pxg.2_3'UTR|DISC1_uc010pxd.2_Nonsense_Mutation_p.R344*|DISC1_uc009xfr.3_Nonsense_Mutation_p.R654*|DISC1_uc010pxn.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxk.1_Non-coding_Transcript|DISC1_uc010pxi.1_Non-coding_Transcript|DISC1_uc010pxj.1_Nonsense_Mutation_p.R344*|DISC1_uc010pxl.1_Non-coding_Transcript|DISC1_uc010pxm.2_Nonsense_Mutation_p.R577*|DISC1_uc001huz.3_Nonsense_Mutation_p.R699*|DISC1_uc001hva.3_Nonsense_Mutation_p.R699*	NM_001164537	NP_001158009	Q9NRI5	DISC1_HUMAN	Homo sapiens disrupted in schizophrenia 1 (DISC1), transcript variant a, mRNA.	699	Interaction with ATF4 and ATF5.|Interaction with PAFAH1B1.|Necessary and sufficient for interaction with PCNT and localization at the centrosome.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				GGAAGCTTGTCGATTGCTTAT	0.493													T	232144583	C	T	232144583	4	4	259	1	0	0	0	0	0	1	0	0	4577	876	31	1	2873	1	DISC1	1	232144583	Nonsense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	14320065	232144583	17106038	7	18120											
LPIN1	23175	broad.mit.edu	37	chr2	11911528	11911528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatgcacctggccacctccCccatcctgtcagaaggagct	8	8	8	17	0	1	1	1	0	0	1	3	2	3	2	6	2	2	2	6	2	2	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:11911528C>T	uc010yjm.2	+	4	519	c.466C>T	c.(466-468)Ccc>Tcc	p.P156S	LPIN1_uc010yjn.2_Missense_Mutation_p.P107S|LPIN1_uc002rbt.3_Missense_Mutation_p.P107S|LPIN1_uc002rbs.3_Missense_Mutation_p.P107S	NM_145693	NP_663731	Q14693	LPIN1_HUMAN	Homo sapiens lipin 1 (LPIN1), mRNA.	107					fatty acid catabolic process|transcription, DNA-dependent|triglyceride biosynthetic process|triglyceride mobilization	cytosol|endoplasmic reticulum membrane	phosphatidate phosphatase activity	p.P107S(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(15)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	45	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.173)		GGCCACCTCCCCCATCCTGTC	0.517													T	11911528	C	T	11911528	3	4	259	1	0	0	0	0	1	0	0	0	8988	623	22	2	329	2	LPIN1	2	11911528	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		11911528	231287845	8	18121											
MFSD2B	388931	broad.mit.edu	37	chr2	24246495	24246495	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgactttcagctgcagcaCcgtcacgggccaggcctgga	8	7	13	13	2	2	1	2	1	0	0	2	3	2	2	3	3	3	3	3	3	0	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:24246495C>T	uc002reo.2	+	11	1226	c.1212C>T	c.(1210-1212)caC>caT	p.H404H		NM_001080473	NP_001073942	A6NFX1	MFS2B_HUMAN	Homo sapiens major facilitator superfamily domain containing 2B (MFSD2B), mRNA.	404					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						AGCTGCAGCACCGTCACGGGC	0.622													T	24246495	C	T	24246495	2	4	259	1	0	0	0	0	0	0	0	1	9606	506	18	2		2	MFSD2B	2	24246495	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	12334967	24246495	218952878	9	18122											
SCN1A	6323	broad.mit.edu	37	chr2	166897863	166897863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacaaatgggtccatcaCaaccaggttgacaacatgtt	14	9	8	10	0	2	1	2	1	0	0	3	1	3	1	2	2	3	2	2	2	4	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:166897863C>T	uc002udo.4	-	14	2520	c.2293G>A	c.(2293-2295)Gtg>Atg	p.V765M	SCN1A_uc010fpk.3_Missense_Mutation_p.V737M|SCN1A_uc021vsb.1_Missense_Mutation_p.V754M	NM_001202435	NP_001189364	P35498	SCN1A_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, alpha subunit (SCN1A), transcript variant 4, mRNA.	765						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.I765I(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGGTCCATCACAACCAGGTTG	0.403													T	166897863	C	T	166897863	3	4	259	1	0	0	0	0	1	0	0	0	14007	478	17	2	3792	2	SCN1A	2	166897863	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	142651368	166897863	76301510	10	18123											
PIKFYVE	200576	broad.mit.edu	37	chr2	209150648	209150648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttagaggatgatttggCctggcaaaggtattgtccct	9	15	11	6	0	0	2	0	1	0	1	1	3	1	3	2	4	0	2	2	4	3	6			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:209150648C>T	uc002vcz.3	+	5	970	c.812C>T	c.(811-813)gCc>gTc	p.A271V	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.A271V|PIKFYVE_uc002vcw.3_Missense_Mutation_p.A271V|PIKFYVE_uc002vcv.3_Missense_Mutation_p.A174V|PIKFYVE_uc002vcx.3_Missense_Mutation_p.A185V	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	271					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATGATTTGGCCTGGCAAAGG	0.403													T	209150648	C	T	209150648	3	4	259	1	0	0	0	0	1	0	0	0	12001	739	26	2	830	2	PIKFYVE	2	209150648	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	42252785	209150648	34048725	11	18124											
TNS1	7145	broad.mit.edu	37	chr2	218713141	218713141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggccgcatgggggccGtgtggccagcatgggcaggc	6	4	21	10	2	0	0	0	0	0	0	0	1	0	1	3	7	1	3	3	7	0	0	rs147452506		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:218713141G>A	uc002vgt.2	-	16	2122	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M	TNS1_uc002vgr.2_Missense_Mutation_p.T575M|TNS1_uc002vgs.2_Missense_Mutation_p.T575M|TNS1_uc010zjv.1_Missense_Mutation_p.T575M|TNS1_uc010fvj.1_Missense_Mutation_p.T643M|TNS1_uc010fvk.1_Missense_Mutation_p.T700M|TNS1_uc010fvi.1_Missense_Mutation_p.T262M	NM_022648	NP_072174	Q9HBL0	TENS1_HUMAN	Homo sapiens tensin 1 (TNS1), mRNA.	575						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		CATGGGGGCCGTGTGGCCAGC	0.667													A	218713141	G	A	218713141	3	1	259	1	0	0	0	0	1	0	0	0	16443	1145	40	1	3551	1	TNS1	2	218713141	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	9562493	218713141	24486232	12	18125											
COL6A3	1293	broad.mit.edu	37	chr2	238303590	238303590	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctaatccttttccagtctGattggttcccccaatataag	9	16	5	11	0	2	1	0	1	2	0	5	1	5	1	4	1	0	1	4	1	4	8			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:238303590G>C	uc002vwl.2	-	2	634	c.349C>G	c.(349-351)Cag>Gag	p.Q117E	COL6A3_uc002vwo.2_Intron|COL6A3_uc010znj.1_Intron|COL6A3_uc002vwq.3_Intron|COL6A3_uc002vwr.3_Intron|COL6A3_uc010znk.1_Missense_Mutation_p.Q117E	NM_004369	NP_004360	P12111	CO6A3_HUMAN	Homo sapiens collagen, type VI, alpha 3 (COL6A3), transcript variant 1, mRNA.	117	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTTCCAGTCTGATTGGTTCCC	0.453													C	238303590	G	C	238303590	3	2	259	1	0	0	0	0	1	0	0	0	3732	1299	45	4	9399	4	COL6A3	2	238303590	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	19590449	238303590	4895783	13	18126											
HDAC4	9759	broad.mit.edu	37	chr2	240061423	240061423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgcgataccgttctccGcgctgacgctcccggagctg	4	7	14	16	8	1	1	0	1	1	0	3	3	2	2	3	2	2	4	3	2	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr2:240061423G>A	uc002vyk.4	-	8	1727	c.935C>T	c.(934-936)gCg>gTg	p.A312V	HDAC4_uc010fyz.1_Missense_Mutation_p.A307V|HDAC4_uc010zoa.1_Missense_Mutation_p.A307V|HDAC4_uc010fza.2_Missense_Mutation_p.A312V|HDAC4_uc010fyy.3_Missense_Mutation_p.A264V|HDAC4_uc010znz.1_Missense_Mutation_p.A195V|HDAC4_uc010fzb.1_Non-coding_Transcript	NM_006037	NP_006028	P56524	HDAC4_HUMAN	Homo sapiens histone deacetylase 4 (HDAC4), mRNA.	312	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	p.A312A(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ACCGTTCTCCGCGCTGACGCT	0.662													A	240061423	G	A	240061423	3	1	259	1	0	0	0	0	1	0	0	0	7064	1087	38	1	2395	1	HDAC4	2	240061423	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	1757833	240061423	3137950	14	18127											
FGD5	152273	broad.mit.edu	37	chr3	14862435	14862435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgacatcccacctcctttCgacctggcctgcatcaccaa	8	9	6	18	2	1	0	1	0	0	0	5	2	3	0	6	1	1	1	6	1	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:14862435C>T	uc003bzc.3	+	0	1967	c.1857C>T	c.(1855-1857)ttC>ttT	p.F619F	FGD5_uc011avk.2_Silent_p.F619F	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	619					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CACCTCCTTTCGACCTGGCCT	0.557													T	14862435	C	T	14862435	2	4	259	1	0	0	0	0	0	0	0	1	5885	883	31	1		1	FGD5	3	14862435	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08		14862435	183159995	15	18128											
SLC6A20	54716	broad.mit.edu	37	chr3	45812818	45812818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagggacacgatgatggCgtgcttctggcagttgttgg	7	11	17	6	2	1	2	0	2	1	0	1	5	1	3	0	4	1	4	0	4	0	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:45812818C>T	uc011bai.2	-	5	950	c.826G>A	c.(826-828)Gcc>Acc	p.A276T	SLC6A20_uc003cow.3_5'UTR|SLC6A20_uc011baj.2_Missense_Mutation_p.A239T	NM_020208	NP_064593	Q9NP91	S6A20_HUMAN	Homo sapiens solute carrier family 6 (proline IMINO transporter), member 20 (SLC6A20), transcript variant 1, mRNA.	276					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A239T(1)|p.A276T(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		ACGATGATGGCGTGCTTCTGG	0.517													T	45812818	C	T	45812818	3	4	259	1	0	0	0	0	1	0	0	0	14778	768	27	1	976	1	SLC6A20	3	45812818	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	30950383	45812818	152209612	16	18129											
PHLDB2	90102	broad.mit.edu	37	chr3	111603533	111603533	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccgcaagcatgccttcAagcccaaagcaagccaggaa	14	3	11	13	1	1	0	1	0	0	0	1	2	1	2	4	2	6	3	4	2	5	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr3:111603533A>C	uc010hqa.3	+	1	1020	c.609A>C	c.(607-609)tcA>tcC	p.S203S	PHLDB2_uc003dyc.3_Silent_p.S230S|PHLDB2_uc003dyd.3_Silent_p.S203S|PHLDB2_uc003dyg.3_Silent_p.S203S|PHLDB2_uc003dyh.3_Silent_p.S203S|PHLDB2_uc003dye.4_Silent_p.S203S|PHLDB2_uc003dyf.4_Silent_p.S203S	NM_001134438	NP_001127911	Q86SQ0	PHLB2_HUMAN	Homo sapiens pleckstrin homology-like domain, family B, member 2 (PHLDB2), transcript variant 1, mRNA.	203						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCATGCCTTCAAGCCCAAAGC	0.532													C	111603533	A	C	111603533	2	2	259	1	0	0	0	0	0	0	0	1	11929	117	5	5		5	PHLDB2	3	111603533	Silent	SNP	A	TCGA-76-4927-01A-01D-1486-08	65790715	111603533	86418897	17	18130											
PDGFRA	81608	broad.mit.edu	37	chr4	54294195	54294195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgctctaattttaggTcctttctgaaagatctgcta	10	16	7	8	0	3	2	0	1	3	1	4	2	4	2	1	1	3	2	1	1	5	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:54294195T>C	uc003gzy.3	+	13	1204	c.1018_splice	c.e13-1	p.V340_splice	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003gzx.4_Splice_Site_p.V325_splice|PDGFRA_uc011bzt.1_Splice_Site_p.V304_splice|PDGFRA_uc011bzu.2_Splice_Site_p.V325_splice|PDGFRA_uc003gzz.3_Splice_Site_p.V266_splice|PDGFRA_uc003hab.3_Splice_Site_p.V305_splice|PDGFRA_uc010ign.3_Splice_Site|FIP1L1_uc003hae.3_Splice_Site	NM_030917	NP_112179	P16234	PGFRA_HUMAN	Homo sapiens FIP1 like 1 (S. cerevisiae) (FIP1L1), transcript variant 1, mRNA.	0	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TAATTTTAGGTCCTTTCTGAA	0.353			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	54294195	T	C	54294195	3	2	259	1	0	0	0	0	1	0	0	0	11737	1681	58	3		3	PDGFRA	4	54294195	Missense_Mutation	SNP	T	TCGA-76-4927-01A-01D-1486-08		54294195	136860081	18	18131											
TLR2	7097	broad.mit.edu	37	chr4	154625003	154625003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaacgttaacaatccGgaggctgcatattccaaggt	13	9	11	8	2	0	0	0	0	0	0	2	2	2	2	2	4	3	3	2	4	5	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr4:154625003G>A	uc003inq.3	+	2	1163	c.944G>A	c.(943-945)cGg>cAg	p.R315Q	TLR2_uc003inr.3_Missense_Mutation_p.R315Q|TLR2_uc003ins.3_Missense_Mutation_p.R315Q|TLR2_uc021xtl.1_Missense_Mutation_p.R315Q	NM_003264	NP_003255	O60603	TLR2_HUMAN	Homo sapiens toll-like receptor 2 (TLR2), mRNA.	315					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding	p.I314V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				TTAACAATCCGGAGGCTGCAT	0.338													A	154625003	G	A	154625003	3	1	259	1	0	0	0	0	1	0	0	0	16051	1116	39	1	946	1	TLR2	4	154625003	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	100330808	154625003	36529273	19	18132											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163559	163559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacagagaagaagctcccGctgtggcagcatgccaggag	11	4	14	12	1	0	2	0	0	0	2	1	4	1	3	3	2	3	4	3	2	2	0	rs114260538	byFrequency	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:163559G>A	uc003jak.2	+	10	2354	c.2304G>A	c.(2302-2304)ccG>ccA	p.P768P		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	768					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.P768P(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAGCTCCCGCTGTGGCAGC	0.652													A	163559	G	A	163559	2	1	259	1	0	0	0	0	0	0	0	1	12149	1074	38	1		1	PLEKHG4B	5	163559	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08		163559	180751701	20	18133											
PIK3R1	5295	broad.mit.edu	37	chr5	67575431	67575432	+	Frame_Shift_Ins	INS	-	-	A																															tcttaaattgtttcctagatINSacaccctccgtggacttgga																										TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:67575431_67575432insA	uc003jva.3	+	4	1084_1085	c.504_505insA	c.(502-507)gatacafs	p.D168fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	168	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GTTTCCTAGATACACCCTCCGT	0.381			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67575432	-	A	67575431	7	5	259	1	0	1	1	0	0	0	0	0	11995	1420	49	0	518	0	PIK3R1	5	67575431	Frame_Shift_Ins	INS	-	TCGA-76-4927-01A-01D-1486-08	67411872	67575431	113339829	21	18134											
PCDHAC2	56143	broad.mit.edu	37	chr5	140202723	140202723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaacgctccggcgttcGcgcagccccagtataccgtg	8	6	11	16	7	0	0	0	0	0	0	2	1	1	0	4	1	3	4	4	1	3	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr5:140202723G>A	uc003lhl.2	+	0	1363	c.1363G>A	c.(1363-1365)Gcg>Acg	p.A455T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Missense_Mutation_p.A455T|PCDHAC2_uc003lhj.1_Missense_Mutation_p.A455T	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	470	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.T454S(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGGCGTTCGCGCAGCCCCA	0.677													A	140202723	G	A	140202723	3	1	259	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140202723	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	72627292	140202723	40712537	22	18135											
GPR111	222611	broad.mit.edu	37	chr6	47647995	47647995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtgcagctcttacacaaCatatcaacagcaatatggac	15	10	6	10	0	2	0	1	0	1	0	2	1	2	1	0	1	6	3	0	1	6	4	rs141145040	by1000genomes	TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:47647995C>A	uc010jzj.1	+	4	661	c.660C>A	c.(658-660)aaC>aaA	p.N220K	GPR111_uc003oyy.3_Missense_Mutation_p.N152K	NM_153839	NP_722581	Q8IZF7	GP111_HUMAN	Homo sapiens G protein-coupled receptor 111 (GPR111), mRNA.	220					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TCTTACACAACATATCAACAG	0.438													A	47647995	C	A	47647995	3	1	259	1	0	0	0	0	1	0	0	0	6682	477	17	4	470	4	GPR111	6	47647995	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		47647995	123467072	23	18136											
PACRG	135138	broad.mit.edu	37	chr6	163510341	163510341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgtcactctcaaggtcCtccagcatctggttgtgtca	6	14	9	12	0	5	0	3	0	3	0	8	0	7	0	2	2	1	2	2	2	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr6:163510341C>T	uc003qua.3	+	4	738	c.514C>T	c.(514-516)Ctc>Ttc	p.L172F	PACRG_uc003qub.3_Missense_Mutation_p.L172F|PACRG_uc003quc.3_Missense_Mutation_p.L172F	NM_152410	NP_689623	Q96M98	PACRG_HUMAN	Homo sapiens PARK2 co-regulated (PACRG), transcript variant 1, mRNA.	172										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TCTCAAGGTCCTCCAGCATCT	0.448													T	163510341	C	T	163510341	3	4	259	1	0	0	0	0	1	0	0	0	11446	681	24	2	528	2	PACRG	6	163510341	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	115862346	163510341	7604726	24	18137											
INTS1	26173	broad.mit.edu	37	chr7	1522258	1522258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcagcagcgcctcctcCgatgtgtccaccaggaaggc	9	5	13	14	2	0	0	0	0	0	0	3	3	3	2	5	3	3	2	5	3	2	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:1522258C>T	uc003skn.2	-	26	3728	c.3627G>A	c.(3625-3627)tcG>tcA	p.S1209S	INTS1_uc003skp.1_3'UTR	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	1209					snRNA processing	integral to membrane|integrator complex|nuclear membrane		p.A1209A(1)		autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GCGCCTCCTCCGATGTGTCCA	0.642													T	1522258	C	T	1522258	2	4	259	1	0	0	0	0	0	0	0	1	7833	639	23	1		1	INTS1	7	1522258	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08		1522258	157616405	25	18138											
PKD1L1	168507	broad.mit.edu	37	chr7	47854942	47854942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctcacctgagcccccGgcacacgggctgacggggtg	8	4	15	14	3	1	2	1	2	0	0	1	3	1	2	3	4	2	3	3	4	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:47854942G>A	uc003tny.2	-	46	7113	c.7079C>T	c.(7078-7080)cCg>cTg	p.P2360L	C7orf69_uc003tnz.4_Intron|C7orf69_uc003toa.1_Intron|PKD1L1_uc003tob.3_Missense_Mutation_p.P87L	NM_138295	NP_612152	Q8TDX9	PK1L1_HUMAN	Homo sapiens polycystic kidney disease 1 like 1 (PKD1L1), mRNA.	2360					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CTGAGCCCCCGGCACACGGGC	0.567													A	47854942	G	A	47854942	3	1	259	1	0	0	0	0	1	0	0	0	12041	1116	39	1	1514	1	PKD1L1	7	47854942	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	46332684	47854942	111283721	26	18139											
EGFR	1956	broad.mit.edu	37	chr7	55220274	55220274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccagcagtgctccgggCgctgccgtggcaagtccccc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	2	4	4	5	2	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:55220274C>T	uc003tqk.3	+	5	910	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	EGFR_uc003tqh.3_Missense_Mutation_p.R222C|EGFR_uc003tqi.3_Missense_Mutation_p.R222C|EGFR_uc003tqj.3_Missense_Mutation_p.R222C|EGFR_uc022adm.1_Missense_Mutation_p.R222C|EGFR_uc010kzg.2_Missense_Mutation_p.R177C|EGFR_uc022adn.1_Missense_Mutation_p.R177C|EGFR_uc011kco.2_Missense_Mutation_p.R169C|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	222					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R222C(7)|p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCTCCGGGCGCTGCCGTGG	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55220274	C	T	55220274	3	4	259	1	0	0	0	0	1	0	0	0	5006	768	27	1	686	1	EGFR	7	55220274	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	7365332	55220274	103918389	27	18140											
TAC1	6863	broad.mit.edu	37	chr7	97364145	97364145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctttcttctaggacatggCcagatctctcacaaaagtaa	13	12	6	10	0	5	1	1	0	4	1	6	2	5	2	1	2	0	1	1	2	4	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:97364145C>T	uc003uop.4	+	4	519	c.273C>T	c.(271-273)ggC>ggT	p.G91G	TAC1_uc003uoq.4_Silent_p.G91G|TAC1_uc003uor.4_Silent_p.G76G|TAC1_uc003uos.4_Silent_p.G76G	NM_003182	NP_003173	P20366	TKN1_HUMAN	Homo sapiens tachykinin, precursor 1 (TAC1), transcript variant beta, mRNA.	91					detection of abiotic stimulus|elevation of cytosolic calcium ion concentration|insemination|neuropeptide signaling pathway|synaptic transmission|tachykinin receptor signaling pathway	extracellular space				large_intestine(4)|lung(6)|urinary_tract(1)	11	all_cancers(62;3.95e-09)|all_epithelial(64;1.1e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0358)|all_lung(186;0.0384)				Bacitracin(DB00626)	TAGGACATGGCCAGATCTCTC	0.214													T	97364145	C	T	97364145	2	4	259	1	0	0	0	0	0	0	0	1	15595	726	26	2		2	TAC1	7	97364145	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	42143871	97364145	61774518	28	18141											
FAM71F1	84691	broad.mit.edu	37	chr7	128369997	128369997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcatcccttgcacctgtGacctacgttggagggcttca	8	10	10	13	1	1	1	1	1	0	0	2	2	2	2	3	2	3	4	3	2	1	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:128369997G>A	uc003vno.1	+	5	948	c.895G>A	c.(895-897)Gac>Aac	p.D299N	FAM71F1_uc003vnm.1_Non-coding_Transcript|FAM71F1_uc003vnn.1_Missense_Mutation_p.D198N|FAM71F1_uc003vnp.1_Missense_Mutation_p.D297N	NM_032599	NP_115988	Q96KD3	F71F1_HUMAN	Homo sapiens family with sequence similarity 71, member F1 (FAM71F1), mRNA.	299								p.D299G(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						TTGCACCTGTGACCTACGTTG	0.532													A	128369997	G	A	128369997	3	1	259	1	0	0	0	0	1	0	0	0	5662	1290	45	2	917	2	FAM71F1	7	128369997	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	31005852	128369997	30768666	29	18142											
LMBR1	64327	broad.mit.edu	37	chr7	156556439	156556439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatcccaagaatgagtaaCgcaagaagaagaagcatgac	19	5	9	8	1	0	6	0	2	0	4	1	6	1	6	1	0	2	3	1	0	8	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr7:156556439C>T	uc010lqn.3	-	5	689	c.474G>A	c.(472-474)gcG>gcA	p.A158A	LMBR1_uc003wmv.4_Silent_p.A6A|LMBR1_uc003wmw.4_Silent_p.A158A|LMBR1_uc003wmx.4_Silent_p.A6A|LMBR1_uc011kvx.2_Silent_p.A137A	NM_022458	NP_071903	Q8WVP7	LMBR1_HUMAN	Homo sapiens limb region 1 homolog (mouse) (LMBR1), mRNA.	158						integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GAATGAGTAACGCAAGAAGAA	0.378													T	156556439	C	T	156556439	2	4	259	1	0	0	0	0	0	0	0	1	8901	523	19	1		1	LMBR1	7	156556439	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	28186442	156556439	2582224	30	18143											
UBXN8	7993	broad.mit.edu	37	chr8	30609013	30609013	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatggcttaactcatttaaAtctccccaagtttatctgaa	12	15	4	10	0	4	1	2	1	2	0	5	1	4	1	2	1	1	2	2	1	6	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:30609013A>C	uc003xii.3	+	1	206	c.189A>C	c.(187-189)aaA>aaC	p.K63N	UBXN8_uc010lvi.3_Intron|UBXN8_uc011lbb.2_Non-coding_Transcript|UBXN8_uc003xij.3_Non-coding_Transcript	NM_005671	NP_005662	O00124	UBXN8_HUMAN	Homo sapiens UBX domain protein 8 (UBXN8), mRNA.	63					single fertilization					central_nervous_system(1)|lung(2)	3						ACTCATTTAAATCTCCCCAAG	0.338													C	30609013	A	C	30609013	3	2	259	1	0	0	0	0	1	0	0	0	17021	98	4	5	195	5	UBXN8	8	30609013	Missense_Mutation	SNP	A	TCGA-76-4927-01A-01D-1486-08		30609013	115755009	31	18144											
TG	7038	broad.mit.edu	37	chr8	134107432	134107432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaagcctgccaatgtcCtcaatgatgcccagaccaag	12	6	9	14	0	1	3	1	1	0	2	2	3	2	3	6	0	3	0	6	0	4	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr8:134107432C>T	uc003ytw.3	+	41	7425	c.7384C>T	c.(7384-7386)Ctc>Ttc	p.L2462F	TG_uc010mdw.3_Missense_Mutation_p.L1221F|TG_uc011ljb.2_Missense_Mutation_p.L831F|TG_uc011ljc.2_Missense_Mutation_p.L595F|SLA_uc003ytz.3_Intron|SLA_uc011lje.2_Intron|SLA_uc011ljf.2_Intron|SLA_uc011ljg.2_Intron|SLA_uc010mea.2_Intron	NM_003235	NP_003226	P01266	THYG_HUMAN	Homo sapiens thyroglobulin (TG), mRNA.	2462					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.V2461V(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCCAATGTCCTCAATGATGC	0.512													T	134107432	C	T	134107432	3	4	259	1	0	0	0	0	1	0	0	0	15913	681	24	2	7550	2	TG	8	134107432	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	103498419	134107432	12256590	32	18145											
CTSL2	1515	broad.mit.edu	37	chr9	99800218	99800218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgccatataatcttctGtgtgttgccttccactggta	7	14	8	12	2	2	0	0	0	2	0	3	0	3	0	4	1	1	2	4	1	3	6			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:99800218G>C	uc010msi.3	-	1	315	c.108C>G	c.(106-108)caC>caG	p.H36Q	CTSL2_uc004awt.3_Missense_Mutation_p.H36Q|CTSL2_uc004awu.3_5'UTR|CTSL2_uc010msj.2_5'UTR|CTSL2_uc010msk.3_5'UTR	NM_001201575	NP_001188504	O60911	CATL2_HUMAN	Homo sapiens cathepsin L2 (CTSL2), transcript variant 2, mRNA.	36						lysosome	cysteine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(8)|lung(4)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(62;0.0559)				ATAATCTTCTGTGTGTTGCCT	0.483													C	99800218	G	C	99800218	3	2	259	1	0	0	0	0	1	0	0	0	4072	1368	48	4	924	4	CTSL2	9	99800218	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		99800218	41413213	33	18146											
FAM102A	399665	broad.mit.edu	37	chr9	130710496	130710496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagatggacttggcagtcGatggtggccttgggaagaca	9	9	17	6	1	0	2	0	0	0	2	1	6	0	4	1	6	0	1	1	6	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr9:130710496G>A	uc004bsx.2	-	5	866	c.470C>T	c.(469-471)tCg>tTg	p.S157L	FAM102A_uc004bsw.1_Missense_Mutation_p.S15L|FAM102A_uc004bsy.1_5'UTR	NM_001035254	NP_976050	Q5T9C2	F102A_HUMAN	Homo sapiens family with sequence similarity 102, member A (FAM102A), transcript variant 1, mRNA.	157	Ser-rich.									breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						CTTGGCAGTCGATGGTGGCCT	0.602													A	130710496	G	A	130710496	3	1	259	1	0	0	0	0	1	0	0	0	5427	1059	37	1	708	1	FAM102A	9	130710496	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	30910278	130710496	10502935	34	18147											
PTEN	5728	broad.mit.edu	37	chr10	89692905	89692905	+	Frame_Shift_Del	DEL	G	G	-																															ctgtaaagctggaaagggacGaactggtgtaatgatatgtg																								rs121913292		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr10:89692905delG	uc001kfb.3	+	4	1421	c.389delG	c.(388-390)cgafs	p.R130fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	130	Phosphatase tensin-type.		R -> G (loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3).|R -> L (in CD and endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|R -> Q (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R130Q(130)|p.R130G(110)|p.R130*(72)|p.0?(37)|p.R130fs*4(28)|p.R130L(25)|p.R130P(14)|p.K128_R130del(8)|p.G129R(7)|p.?(5)|p.R55fs*1(5)|p.G129*(4)|p.G129V(3)|p.Y27_N212>Y(2)|p.G129E(2)|p.A121_F145del(2)|p.R130fs*2(2)|p.Y27fs*1(2)|p.K128fs*47(1)|p.R130R(1)|p.T131fs*50(1)|p.F56fs*2(1)|p.G129fs*5(1)|p.R130?(1)|p.G129fs*50(1)|p.G129fs*51(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAAAGGGACGAACTGGTGTA	0.403	R130Q(JHUEM1_ENDOMETRIUM)|R130Q(MDAPCA2B_PROSTATE)|R130Q(MFE296_ENDOMETRIUM)|R130fs*4(AN3CA_ENDOMETRIUM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89692905	G	-	89692905	7	5	259	1	0	1	0	1	0	0	0	0	12823	1058	37	0	407	0	PTEN	10	89692905	Frame_Shift_Del	DEL	G	TCGA-76-4927-01A-01D-1486-08		89692905	45841842	35	18148											
MUC5B	727897	broad.mit.edu	37	chr11	1263896	1263896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacggccaccccgacctccaCcctgagaacagctccccctc	8	4	6	23	2	0	1	0	1	0	1	3	3	2	1	8	1	2	1	8	1	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:1263896C>T	uc001lta.3	+	30	5845	c.5786C>T	c.(5785-5787)aCc>aTc	p.T1929I		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	1929	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCGACCTCCACCCTGAGAACA	0.637													T	1263896	C	T	1263896	3	4	259	1	0	0	0	0	1	0	0	0	10055	507	18	2	5917	2	MUC5B	11	1263896	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		1263896	133742620	36	18149											
OR52N1	79473	broad.mit.edu	37	chr11	5809803	5809803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaatatgaagagagtgtTgggaagggtgctggtgcaca	12	8	15	6	0	0	2	0	1	0	1	0	4	0	3	1	3	2	3	1	3	4	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:5809803T>C	uc010qzo.2	-	0	244	c.244A>G	c.(244-246)Aac>Gac	p.N82D	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAGAGAGTGTTGGGAAGGGTG	0.473													C	5809803	T	C	5809803	3	2	259	1	0	0	0	0	1	0	0	0	11203	1812	63	3	721	3	OR52N1	11	5809803	Missense_Mutation	SNP	T	TCGA-76-4927-01A-01D-1486-08	4545907	5809803	129196713	37	18150											
NPAS4	266743	broad.mit.edu	37	chr11	66189954	66189954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagggtgacagcatctaCgacatcattgacccagctga	11	7	10	13	1	2	3	1	3	1	0	2	4	2	3	2	1	3	2	2	1	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:66189954C>T	uc001ohx.1	+	2	536	c.360C>T	c.(358-360)taC>taT	p.Y120Y	NPAS4_uc010rpc.1_5'UTR	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN	Homo sapiens neuronal PAS domain protein 4 (NPAS4), mRNA.	120	PAS 1.				transcription, DNA-dependent		DNA binding|signal transducer activity	p.I119F(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						ACAGCATCTACGACATCATTG	0.557													T	66189954	C	T	66189954	2	4	259	1	0	0	0	0	0	0	0	1	10641	547	19	1		1	NPAS4	11	66189954	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	60380151	66189954	68816562	38	18151											
PRCP	5547	broad.mit.edu	37	chr11	82549612	82549612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcatgactacttctgtgCaggcctaagaagcaaaccaa	14	7	10	10	0	1	2	0	1	1	1	1	2	1	2	2	2	4	3	2	2	5	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr11:82549612C>T	uc001ozs.3	-	7	1204	c.1091G>A	c.(1090-1092)tGc>tAc	p.C364Y	PRCP_uc001ozr.3_Missense_Mutation_p.C385Y	NM_005040	NP_005031	P42785	PCP_HUMAN	Homo sapiens prolylcarboxypeptidase (angiotensinase C) (PRCP), transcript variant 1, mRNA.	364					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TACTTCTGTGCAGGCCTAAGA	0.378													T	82549612	C	T	82549612	3	4	259	1	0	0	0	0	1	0	0	0	12535	710	25	2	407	2	PRCP	11	82549612	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	16359658	82549612	52456904	39	18152											
KITLG	4254	broad.mit.edu	37	chr12	88939597	88939597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cccttcagttttgacgagagGattaaataggagcagctgaa	13	10	11	7	1	1	3	1	2	0	1	1	6	1	5	1	2	2	3	1	2	4	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:88939597G>C	uc001tav.3	-	1	256	c.61C>G	c.(61-63)Cct>Gct	p.P21A	KITLG_uc001taw.3_Missense_Mutation_p.P21A	NM_000899	NP_000890	P21583	SCF_HUMAN	Homo sapiens KIT ligand (KITLG), transcript variant b, mRNA.	21					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTGACGAGAGGATTAAATAGG	0.363									Testicular Cancer, Familial Clustering of				C	88939597	G	C	88939597	3	2	259	1	0	0	0	0	1	0	0	0	8388	1174	41	4	792	4	KITLG	12	88939597	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		88939597	44912298	40	18153											
TXNRD1	7296	broad.mit.edu	37	chr12	104721416	104721416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccaggcaggaagattgctGgctcagaggctctatgcagg	10	8	14	9	0	2	2	1	0	1	2	3	3	3	3	1	5	2	5	1	5	2	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr12:104721416G>A	uc021rcx.1	+	12	1531	c.1509G>A	c.(1507-1509)ctG>ctA	p.L503L	TXNRD1_uc021rcy.1_Silent_p.L405L|TXNRD1_uc021rcz.1_Silent_p.L353L|TXNRD1_uc021rda.1_Silent_p.L353L|TXNRD1_uc021rdb.1_Silent_p.L353L|TXNRD1_uc010swp.2_Silent_p.L315L|TXNRD1_uc010swq.2_Silent_p.L403L|TXNRD1_uc001tku.3_Non-coding_Transcript|TXNRD1_uc009zun.3_Silent_p.L419L	NM_001093771		Q16881	TRXR1_HUMAN	Homo sapiens thioredoxin reductase 1 (TXNRD1), transcript variant 5, mRNA.	503					cell redox homeostasis|cellular lipid metabolic process|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|signal transduction|transport	cytosol|nucleolus	electron carrier activity|flavin adenine dinucleotide binding|NADP binding|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)|urinary_tract(1)	16						GAAGATTGCTGGCTCAGAGGC	0.473													A	104721416	G	A	104721416	2	1	259	1	0	0	0	0	0	0	0	1	16909	1335	47	2		2	TXNRD1	12	104721416	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08	15781819	104721416	29130479	41	18154											
SCFD1	23256	broad.mit.edu	37	chr14	31142541	31142541	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagatgaggtcaaacgactTaaaagcattatggtaagatt	17	10	10	4	1	1	3	1	1	0	2	1	5	1	3	0	2	2	2	0	2	6	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:31142541T>C	uc001wqm.1	+	11	1098	c.1074T>C	c.(1072-1074)ctT>ctC	p.L358L	SCFD1_uc001wqn.1_Silent_p.L291L|SCFD1_uc010tpg.1_Silent_p.L299L|SCFD1_uc010tph.1_Silent_p.L173L|SCFD1_uc010amf.1_Silent_p.L173L|SCFD1_uc010tpi.1_Silent_p.L266L|SCFD1_uc010amd.1_Silent_p.L190L	NM_016106	NP_057190	Q8WVM8	SCFD1_HUMAN	Homo sapiens sec1 family domain containing 1 (SCFD1), transcript variant 1, mRNA.	358					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		TCAAACGACTTAAAAGCATTA	0.338													C	31142541	T	C	31142541	2	2	259	1	0	0	0	0	0	0	0	1	13981	1741	61	3		3	SCFD1	14	31142541	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08		31142541	76206999	42	18155											
ESR2	2100	broad.mit.edu	37	chr14	64749369	64749369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtaaggtgtgttctagcGatcttgcttcacaccaggga	9	11	12	9	1	3	0	1	0	2	0	3	2	3	1	1	3	2	3	1	3	2	5	rs141516067		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:64749369G>A	uc001xha.1	-	1	803	c.335C>T	c.(334-336)tCg>tTg	p.S112L	ESR2_uc001xgy.2_Missense_Mutation_p.S112L|ESR2_uc001xgu.3_Missense_Mutation_p.S112L|ESR2_uc001xgv.3_Missense_Mutation_p.S112L|ESR2_uc001xgw.3_Non-coding_Transcript|ESR2_uc001xgx.3_Missense_Mutation_p.S112L|ESR2_uc010aqb.1_Non-coding_Transcript|ESR2_uc010aqc.1_Missense_Mutation_p.S112L|ESR2_uc001xgz.2_Missense_Mutation_p.S112L	NM_001437	NP_001428	Q92731	ESR2_HUMAN	Homo sapiens estrogen receptor 2 (ER beta) (ESR2), transcript variant a, mRNA.	112	Modulating.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTGTTCTAGCGATCTTGCTTC	0.448													A	64749369	G	A	64749369	3	1	259	1	0	0	0	0	1	0	0	0	5298	1059	37	1	1375	1	ESR2	14	64749369	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	33606828	64749369	42600171	43	18156											
PAPLN	89932	broad.mit.edu	37	chr14	73729314	73729314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcagtcctgcaggCgagcaggaacccagccagca	10	2	15	14	2	0	0	0	0	0	0	1	2	1	1	3	4	6	5	3	4	1	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:73729314C>T	uc010ttx.2	+	17	2665	c.2502C>T	c.(2500-2502)ggC>ggT	p.G834G	PAPLN_uc001xnw.4_Silent_p.G807G|PAPLN_uc010arl.3_Intron|PAPLN_uc010ttw.2_Non-coding_Transcript|PAPLN_uc010tty.2_Silent_p.G818G|PAPLN_uc010arm.3_Missense_Mutation_p.A26V|PAPLN_uc010arn.3_Silent_p.G34G	NM_173462	NP_775733	O95428	PPN_HUMAN	Homo sapiens papilin, proteoglycan-like sulfated glycoprotein (PAPLN), mRNA.	834						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GTCCTGCAGGCGAGCAGGAAC	0.682													T	73729314	C	T	73729314	2	4	259	1	0	0	0	0	0	0	0	1	11504	755	27	1		1	PAPLN	14	73729314	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	8979945	73729314	33620226	44	18157											
GPR68	8111	broad.mit.edu	37	chr14	91700886	91700886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagtgctcaaagcacacgCggtgctggttctcgtcctcg	6	10	13	12	4	2	0	1	0	1	0	5	0	3	0	1	3	3	5	1	3	2	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:91700886C>T	uc021ryk.1	-	0	509	c.509G>A	c.(508-510)cGc>cAc	p.R170H	GPR68_uc001xzg.3_Missense_Mutation_p.R170H|GPR68_uc001xzh.3_Missense_Mutation_p.R170H	NM_003485	NP_003476	Q15743	OGR1_HUMAN	Homo sapiens G protein-coupled receptor 68 (GPR68), transcript variant 2, mRNA.	170					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity	p.E170K(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		AAAGCACACGCGGTGCTGGTT	0.627													T	91700886	C	T	91700886	3	4	259	1	0	0	0	0	1	0	0	0	6761	768	27	1	592	1	GPR68	14	91700886	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	17971572	91700886	15648654	45	18158											
BDKRB1	623	broad.mit.edu	37	chr14	96730468	96730468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccggaggcagcagcGgcggaggcaggcccgggtca	7	1	20	13	4	1	0	1	0	0	0	1	2	1	2	3	8	3	3	3	8	0	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr14:96730468G>A	uc021sbj.1	+	0	449	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	BDKRB1_uc001yfh.3_Missense_Mutation_p.R150Q	NM_000710	NP_000701	P46663	BKRB1_HUMAN	Homo sapiens bradykinin receptor B1 (BDKRB1), mRNA.	150					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity	p.R150R(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		AGGCAGCAGCGGCGGAGGCAG	0.632													A	96730468	G	A	96730468	3	1	259	1	0	0	0	0	1	0	0	0	1397	1116	39	1	451	1	BDKRB1	14	96730468	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	5029582	96730468	10619072	46	18159											
MKRN3	7681	broad.mit.edu	37	chr15	23811282	23811282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggagaactgtcgctattCgcacgacctttctggtcgga	7	10	14	10	4	1	1	0	0	1	1	4	4	1	2	1	4	1	2	1	4	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr15:23811282C>T	uc001ywh.4	+	0	829	c.353C>T	c.(352-354)tCg>tTg	p.S118L	MKRN3_uc001ywi.3_Intron|MKRN3_uc010ayi.1_Missense_Mutation_p.S118L	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	118						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding	p.S118S(1)		breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGTCGCTATTCGCACGACCTT	0.597													T	23811282	C	T	23811282	3	4	259	1	0	0	0	0	1	0	0	0	9683	893	31	1	355	1	MKRN3	15	23811282	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		23811282	78720110	47	18160											
ANKS3	124401	broad.mit.edu	37	chr16	4764084	4764084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaggctcttgggcagagagGgcgagtaagtgtccatcaag	11	7	16	7	1	2	2	1	0	1	2	3	4	3	2	1	3	0	3	1	3	2	2	rs146798732		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:4764084G>A	uc002cxj.2	-	6	972	c.677C>T	c.(676-678)cCc>cTc	p.P226L	ANKS3_uc002cxi.2_Missense_Mutation_p.P153L|ANKS3_uc021tcj.1_Missense_Mutation_p.P97L|ANKS3_uc021tck.1_Missense_Mutation_p.P119L|ANKS3_uc002cxk.3_Missense_Mutation_p.P97L|ANKS3_uc010uxs.2_Missense_Mutation_p.P153L|ANKS3_uc002cxm.3_Missense_Mutation_p.P20L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN	Homo sapiens ankyrin repeat and sterile alpha motif domain containing 3 (ANKS3), transcript variant 1, mRNA.	226								p.P226P(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCAGAGAGGGCGAGTAAGT	0.617													A	4764084	G	A	4764084	3	1	259	1	0	0	0	0	1	0	0	0	690	1232	43	2	1337	2	ANKS3	16	4764084	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08		4764084	85590669	48	18161											
HAS3	3038	broad.mit.edu	37	chr16	69148326	69148326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaacgtggagcgggcctgCcagtcctactttggctgtgt	5	12	13	11	2	1	0	1	0	0	0	2	1	2	1	3	3	4	1	3	3	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr16:69148326C>T	uc010cfh.3	+	3	1043	c.819C>T	c.(817-819)tgC>tgT	p.C273C	HAS3_uc002ewk.3_Intron|HAS3_uc002ewl.3_Silent_p.C273C	NM_001199280	NP_001186209	O00219	HAS3_HUMAN	Homo sapiens hyaluronan synthase 3 (HAS3), transcript variant 3, mRNA.	273					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		AGCGGGCCTGCCAGTCCTACT	0.552													T	69148326	C	T	69148326	2	4	259	1	0	0	0	0	0	0	0	1	7018	747	26	2		2	HAS3	16	69148326	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	64384242	69148326	21206427	49	18162											
KRTAP4-4	84616	broad.mit.edu	37	chr17	39316492	39316492	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtagcacctggacacaCagcagctggggcggcagcag	9	4	15	13	1	0	0	0	0	0	0	0	1	0	1	2	4	4	6	2	4	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:39316492C>G	uc002hwc.3	-	0	492	c.452G>C	c.(451-453)tGt>tCt	p.C151S		NM_032524	NP_115913	Q9BYR3	KRA44_HUMAN	Homo sapiens keratin associated protein 4-4 (KRTAP4-4), mRNA.	151	26 X 5 AA repeats of C-C-[GRQVCH]-[SPT]- [VSTQR].					keratin filament				kidney(1)|large_intestine(1)|lung(5)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CCTGGACACACAGCAGCTGGG	0.642													G	39316492	C	G	39316492	3	3	259	1	0	0	0	0	1	0	0	0	8612	478	17	4	52	4	KRTAP4-4	17	39316492	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		39316492	41878718	50	18163											
BRCA1	672	broad.mit.edu	37	chr17	41244612	41244612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaagtggtggtataCgatatgggttttgtaaaagt	13	13	14	1	1	0	0	0	0	0	0	0	2	0	1	0	4	1	3	0	4	7	6	rs80356985		TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:41244612C>T	uc002icq.3	-	9	3168	c.2936G>A	c.(2935-2937)cGt>cAt	p.R979H	BRCA1_uc010whp.2_Intron|BRCA1_uc010whl.2_Intron|BRCA1_uc010whm.2_Intron|BRCA1_uc002icp.4_Missense_Mutation_p.R908H|BRCA1_uc002icu.3_Intron|BRCA1_uc010cyx.3_Missense_Mutation_p.R932H|BRCA1_uc002ict.3_Missense_Mutation_p.R979H|BRCA1_uc010whn.2_Intron|BRCA1_uc010who.2_Intron|BRCA1_uc010whq.1_Intron|BRCA1_uc002idc.1_Intron|BRCA1_uc010whr.1_Intron|BRCA1_uc002idd.3_Missense_Mutation_p.R979H|BRCA1_uc002ide.1_Missense_Mutation_p.R810H|BRCA1_uc010cyy.1_Missense_Mutation_p.R979H|BRCA1_uc010whs.1_Missense_Mutation_p.R979H|BRCA1_uc010cyz.2_Missense_Mutation_p.R932H|BRCA1_uc010cza.2_Missense_Mutation_p.R953H|BRCA1_uc010wht.1_Missense_Mutation_p.R683H	NM_007294	NP_009228	P38398	BRCA1_HUMAN	Homo sapiens breast cancer 1, early onset (BRCA1), transcript variant 1, mRNA.	979					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TGGTGGTATACGATATGGGTT	0.363			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T	41244612	C	T	41244612	3	4	259	1	0	0	0	0	1	0	0	0	1507	536	19	1	2781	1	BRCA1	17	41244612	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	1928120	41244612	39950598	51	18164											
ITGA2B	3674	broad.mit.edu	37	chr17	42457990	42457990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacagccacctggttggCcccgtaagctcccacgatca	9	7	9	16	2	1	0	1	0	0	0	2	1	2	0	5	2	3	4	5	2	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr17:42457990C>T	uc002igt.1	-	13	1449	c.1417G>A	c.(1417-1419)Gcc>Acc	p.A473T	ITGA2B_uc002igu.1_5'UTR	NM_000419	NP_000410	P08514	ITA2B_HUMAN	Homo sapiens integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) (ITGA2B), mRNA.	473					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity	p.A473T(2)|p.G472R(1)		biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	ACCTGGTTGGCCCCGTAAGCT	0.592													T	42457990	C	T	42457990	3	4	259	1	0	0	0	0	1	0	0	0	7934	739	26	2	1770	2	ITGA2B	17	42457990	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	1213378	42457990	38737220	52	18165											
LRRC30	339291	broad.mit.edu	37	chr18	7231386	7231386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtctcacaaccagctcCgggttctccctcccgaggtg	6	10	9	16	2	3	0	1	0	3	0	7	1	5	0	4	2	2	2	4	2	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr18:7231386C>T	uc010wzk.2	+	0	250	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_001105581	NP_001099051	A6NM36	LRC30_HUMAN	Homo sapiens leucine rich repeat containing 30 (LRRC30), mRNA.	84										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CAACCAGCTCCGGGTTCTCCC	0.587													T	7231386	C	T	7231386	3	4	259	1	0	0	0	0	1	0	0	0	9055	643	23	1	252	1	LRRC30	18	7231386	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		7231386	70845862	53	18166											
KHSRP	8570	broad.mit.edu	37	chr19	6420483	6420483	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttctgtcattgaagtcCtgtaaagagacacgccaaag	13	10	8	10	1	3	2	1	1	2	1	4	3	4	2	2	0	0	1	2	0	4	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:6420483C>T	uc002mer.4	-	5	536	c.426_splice	c.e5-1	p.R142_splice		NM_003685	NP_003676	Q92945	FUBP2_HUMAN	Homo sapiens KH-type splicing regulatory protein (KHSRP), mRNA.	142	Gly-rich.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding	p.?(1)		breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						CATTGAAGTCCTGTAAAGAGA	0.567													T	6420483	C	T	6420483	5	4	259	1	0	0	0	0	0	0	1	0	8209	695	24	2	1774	2	KHSRP	19	6420483	Splice_Site	SNP	C	TCGA-76-4927-01A-01D-1486-08		6420483	52708500	54	18167											
ZNF136	7695	broad.mit.edu	37	chr19	12298584	12298584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttatctcaactcctttcGaacacatgaaatgattcaca	14	12	4	11	1	2	2	2	2	1	0	5	3	3	2	1	0	2	1	1	0	4	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:12298584G>A	uc002mti.3	+	3	1538	c.1391G>A	c.(1390-1392)cGa>cAa	p.R464Q	ZNF136_uc010xmh.2_Missense_Mutation_p.R398Q	NM_003437	NP_003428	P52737	ZN136_HUMAN	Homo sapiens zinc finger protein 136 (ZNF136), mRNA.	464					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	p.R464R(1)		NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						AACTCCTTTCGAACACATGAA	0.393													A	12298584	G	A	12298584	3	1	259	1	0	0	0	0	1	0	0	0	17827	1058	37	1	1405	1	ZNF136	19	12298584	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	5878101	12298584	46830399	55	18168											
RASAL3	64926	broad.mit.edu	37	chr19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttggagagtcgaaggCgactggtccgtgactccttg	6	9	16	10	3	0	2	0	1	0	1	3	5	2	2	3	4	0	0	3	4	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:15574925C>T	uc002nbe.2	-	1	331	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	82					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672													T	15574925	C	T	15574925	3	4	259	1	0	0	0	0	1	0	0	0	13153	768	27	1	2858	1	RASAL3	19	15574925	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08	3276341	15574925	43554058	56	18169											
USHBP1	83878	broad.mit.edu	37	chr19	17375061	17375061	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgacacttacgggtggAgcatgcctccctcgccggct	6	8	14	13	3	0	1	0	1	0	0	2	2	1	2	3	4	3	2	3	4	1	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:17375061A>C	uc002nfs.1	-	1	161	c.48T>G	c.(46-48)gcT>gcG	p.A16A	USHBP1_uc002nft.1_Non-coding_Transcript|USHBP1_uc010xpk.1_Missense_Mutation_p.L2R|USHBP1_uc010eam.1_5'UTR	NM_031941	NP_114147	Q8N6Y0	USBP1_HUMAN	Homo sapiens Usher syndrome 1C binding protein 1 (USHBP1), mRNA.	16							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						TTACGGGTGGAGCATGCCTCC	0.647													C	17375061	A	C	17375061	2	2	259	1	0	0	0	0	0	0	0	1	17139	291	11	5		5	USHBP1	19	17375061	Silent	SNP	A	TCGA-76-4927-01A-01D-1486-08	1800136	17375061	41753922	57	18170											
MAG	4099	broad.mit.edu	37	chr19	35786738	35786738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttccagggccgcagccGcctcctgggggacctgggcc	4	5	16	16	2	0	0	0	0	0	0	2	2	2	1	7	4	2	2	7	4	0	1			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:35786738G>A	uc002nyy.2	+	3	467	c.269G>A	c.(268-270)cGc>cAc	p.R90H	MAG_uc002nyx.2_Missense_Mutation_p.R90H|MAG_uc010eds.2_Missense_Mutation_p.R65H|MAG_uc002nyz.2_Missense_Mutation_p.R90H	NM_002361	NP_001186145	P20916	MAG_HUMAN	Homo sapiens myelin associated glycoprotein (MAG), transcript variant 1, mRNA.	90	Ig-like V-type.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	p.R90H(3)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGCCGCAGCCGCCTCCTGGGG	0.652													A	35786738	G	A	35786738	3	1	259	1	0	0	0	0	1	0	0	0	9233	1087	38	1	275	1	MAG	19	35786738	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	18411677	35786738	23342245	58	18171											
PLD3	23646	broad.mit.edu	37	chr19	40872766	40872766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctatgggaatacggCgacttgcatctctttgggcc	6	14	11	10	2	2	0	0	0	2	0	3	2	2	1	1	3	2	2	1	3	3	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:40872766C>T	uc002onm.4	+	4	587	c.189C>T	c.(187-189)ggC>ggT	p.G63G	PLD3_uc021uus.1_Silent_p.G63G|PLD3_uc002onj.4_Silent_p.G63G|PLD3_uc002onn.3_Silent_p.G63G|PLD3_uc002ono.3_Nonsense_Mutation_p.R93*	NM_001031696	NP_036400	Q8IV08	PLD3_HUMAN	Homo sapiens phospholipase D family, member 3 (PLD3), transcript variant 1, mRNA.	63					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			GGGAATACGGCGACTTGCATC	0.627													T	40872766	C	T	40872766	2	4	259	1	0	0	0	0	0	0	0	1	12124	755	27	1		1	PLD3	19	40872766	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	5086028	40872766	18256217	59	18172											
PSG3	5669	broad.mit.edu	37	chr19	43372476	43372476	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaacggtaataggtgaaTgaagggtaaattctggggag	13	9	15	4	1	1	3	0	3	1	0	1	4	1	4	1	5	1	2	1	5	7	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:43372476T>A	uc002ovd.1	-	4	1158	c.1020A>T	c.(1018-1020)tcA>tcT	p.S340S	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Intron|PSG3_uc002oun.3_Intron|PSG3_uc002ovc.3_Silent_p.S247S|PSG3_uc002ova.2_Silent_p.S247S|PSG3_uc002ouz.2_Silent_p.S340S|PSG3_uc002ovb.3_Silent_p.S340S	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	340	Ig-like C2-type 3.			Missing (in Ref. 9).	defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				AATAGGTGAATGAAGGGTAAA	0.468													A	43372476	T	A	43372476	2	1	259	1	0	0	0	0	0	0	0	1	12741	1451	51	5		5	PSG3	19	43372476	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08	2499710	43372476	15756507	60	18173											
NLRP5	126206	broad.mit.edu	37	chr19	56538863	56538863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagctcaagtcagaggtcGtgtctccccgttacctgtta	9	11	10	11	2	3	2	2	0	1	2	5	2	3	2	3	1	2	3	3	1	4	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:56538863G>A	uc002qmj.3	+	6	1264	c.1264G>A	c.(1264-1266)Gtg>Atg	p.V422M	NLRP5_uc002qmi.3_Missense_Mutation_p.V403M	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	422	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGAGGTCGTGTCTCCCCG	0.547													A	56538863	G	A	56538863	3	1	259	1	0	0	0	0	1	0	0	0	10556	1145	40	1	1290	1	NLRP5	19	56538863	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	13166387	56538863	2590120	61	18174											
ZNF470	388566	broad.mit.edu	37	chr19	57088760	57088760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcagtgtaataaagcattCagccagcttgcacaccttgc	13	9	8	11	0	1	0	1	0	0	0	1	0	1	0	2	0	6	5	2	0	4	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr19:57088760C>T	uc002qnl.4	+	5	1639	c.963C>T	c.(961-963)ttC>ttT	p.F321F	ZNF470_uc010etn.3_Intron	NM_001001668	NP_001001668	Q6ECI4	ZN470_HUMAN	Homo sapiens zinc finger protein 470 (ZNF470), mRNA.	321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		ATAAAGCATTCAGCCAGCTTG	0.448													T	57088760	C	T	57088760	2	4	259	1	0	0	0	0	0	0	0	1	18030	825	29	2		2	ZNF470	19	57088760	Silent	SNP	C	TCGA-76-4927-01A-01D-1486-08	549897	57088760	2040223	62	18175											
GGTLC1	92086	broad.mit.edu	37	chr20	23966561	23966561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccatccggacctggcCgtcctggcccaccatgatcg	7	6	9	19	3	0	1	0	1	0	0	3	2	2	2	8	3	0	0	8	3	0	0			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:23966561C>T	uc002wts.3	-	3	488	c.355G>A	c.(355-357)Ggc>Agc	p.G119S	GGTLC1_uc002wtu.3_Missense_Mutation_p.G119S	NM_178312	NP_842564	Q9BX51	GGTL1_HUMAN	Homo sapiens gamma-glutamyltransferase light chain 1 (GGTLC1), transcript variant B, mRNA.	119							gamma-glutamyltransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15						CGGACCTGGCCGTCCTGGCCC	0.662													T	23966561	C	T	23966561	3	4	259	1	0	0	0	0	1	0	0	0	6421	652	23	1	334	1	GGTLC1	20	23966561	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		23966561	39058959	63	18176											
CDH22	64405	broad.mit.edu	37	chr20	44841697	44841697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccttgaacacatcgccGccgctgctgctctcgtcctt	5	11	9	16	4	1	2	0	2	1	0	4	2	2	2	4	0	3	3	4	0	1	2			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr20:44841697G>A	uc002xrm.2	-	4	1368	c.969C>T	c.(967-969)ggC>ggT	p.G323G	CDH22_uc010ghk.1_Silent_p.G323G|CDH22_uc002xrn.2_Silent_p.G74G	NM_021248	NP_067071	Q9UJ99	CAD22_HUMAN	Homo sapiens cadherin 22, type 2 (CDH22), mRNA.	323	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				ACACATCGCCGCCGCTGCTGC	0.592													A	44841697	G	A	44841697	2	1	259	1	0	0	0	0	0	0	0	1	3137	1074	38	1		1	CDH22	20	44841697	Silent	SNP	G	TCGA-76-4927-01A-01D-1486-08	20875136	44841697	18183823	64	18177											
RIMBP3B	150221	broad.mit.edu	37	chr22	21742742	21742742	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataggaggtggcgttctcCggcccaagggcacctgcctt	6	9	14	12	2	1	1	0	1	1	0	2	2	1	2	4	5	1	2	4	5	2	3			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chr22:21742742C>G	uc002zuq.4	+	0	5080	c.4595C>G	c.(4594-4596)cCg>cGg	p.P1532R	RN7SK_uc021wmf.1_5'Flank	NM_001128635	NP_001122107			Homo sapiens RIMS binding protein 3B (RIMBP3B), mRNA.																		TGGCGTTCTCCGGCCCAAGGG	0.627													G	21742742	C	G	21742742	3	3	259	1	0	0	0	0	1	0	0	0	13454	652	23	4	4597	4	RIMBP3B	22	21742742	Missense_Mutation	SNP	C	TCGA-76-4927-01A-01D-1486-08		21742742	29561824	65	18178											
PHKA1	5255	broad.mit.edu	37	chrX	71895990	71895990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgtctccacgttcccatAtcccgaagtcctggcataaa	9	12	6	14	2	2	0	0	0	2	0	6	1	5	0	4	1	0	2	4	1	4	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:71895990A>G	uc004eax.4	-	5	849	c.548T>C	c.(547-549)aTa>aCa	p.I183T	PHKA1_uc004eay.4_Missense_Mutation_p.I183T|PHKA1_uc011mqi.2_Missense_Mutation_p.I183T	NM_002637	NP_002628	P46020	KPB1_HUMAN	Homo sapiens phosphorylase kinase, alpha 1 (muscle) (PHKA1), transcript variant 1, mRNA.	183					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					ACGTTCCCATATCCCGAAGTC	0.388													G	71895990	A	G	71895990	3	3	259	1	0	0	0	0	1	0	0	0	11920	449	16	3	3231	3	PHKA1	23	71895990	Missense_Mutation	SNP	A	TCGA-76-4927-01A-01D-1486-08		71895990	83374570	66	18179											
PHF6	84295	broad.mit.edu	37	chrX	133551307	133551307	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacaaagctaaatacattGaaaatatgtcacgaggaatt	20	9	7	5	1	1	2	1	1	0	1	1	4	1	3	0	1	2	1	0	1	9	5			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:133551307G>C	uc004exj.3	+	8	1145	c.943G>C	c.(943-945)Gaa>Caa	p.E315Q	PHF6_uc004exk.3_Missense_Mutation_p.E315Q|PHF6_uc011mvk.2_Missense_Mutation_p.E281Q|PHF6_uc004exi.3_Missense_Mutation_p.E316Q	NM_001015877	NP_115834	Q8IWS0	PHF6_HUMAN	Homo sapiens PHD finger protein 6 (PHF6), transcript variant 1, mRNA.	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAATACATTGAAAATATGTC	0.353			"F, N, Splice, Mis"		ETP ALL								C	133551307	G	C	133551307	3	2	259	1	0	0	0	0	1	0	0	0	11915	1291	45	4	1078	4	PHF6	23	133551307	Missense_Mutation	SNP	G	TCGA-76-4927-01A-01D-1486-08	61655317	133551307	21719253	67	18180											
SLITRK4	139065	broad.mit.edu	37	chrX	142717983	142717983	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctttgcctgcaacgatTccagagatcttggaaggatt	10	11	12	8	1	1	1	0	0	1	1	2	5	2	3	2	3	3	2	2	3	2	4			TCGA-76-4927-01A-01D-1486-08	TCGA-76-4927-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2dc69425-dbfd-4228-ab78-541062b5c445	2da46cea-aae7-4e5e-ab52-93cc80132d37	g.chrX:142717983T>A	uc022cfm.1	-	0	942	c.942A>T	c.(940-942)ggA>ggT	p.G314G	SLITRK4_uc022cfl.1_Silent_p.G314G|SLITRK4_uc004fbx.3_Silent_p.G314G|SLITRK4_uc004fby.3_Silent_p.G314G	NM_173078	NP_775101	Q8IW52	SLIK4_HUMAN	Homo sapiens SLIT and NTRK-like family, member 4 (SLITRK4), transcript variant 2, mRNA.	314						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCAACGATTCCAGAGATCT	0.463													A	142717983	T	A	142717983	2	1	259	1	0	0	0	0	0	0	0	1	14839	1770	62	5		5	SLITRK4	23	142717983	Silent	SNP	T	TCGA-76-4927-01A-01D-1486-08	9166676	142717983	12552577	68	18181											
CHD5	26038	broad.mit.edu	37	chr1	6184051	6184051	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgggcagggctggcGggcactggtgtgttggggtc	4	8	23	6	1	0	0	0	0	0	0	1	1	0	1	0	9	0	4	0	9	0	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:6184051G>C	uc001amb.2	-	30	4767	c.4656C>G	c.(4654-4656)ccC>ccG	p.P1552P	CHD5_uc001alz.2_Silent_p.P409P|CHD5_uc001ama.2_Non-coding_Transcript|CHD5_uc001amc.1_Non-coding_Transcript	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	1552					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CAGGGCTGGCGGGCACTGGTG	0.677													C	6184051	G	C	6184051	2	2	260	1	0	0	0	0	0	0	0	1	3358	1103	39	4		4	CHD5	1	6184051	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		6184051	243066570	1	18182											
PEX14	5195	broad.mit.edu	37	chr1	10555343	10555343	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctctgcagccaagctctactCcaggaagtgaaaatgtgctg	11	9	10	11	0	2	1	0	1	2	0	3	2	3	2	2	1	5	3	2	1	5	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:10555343C>G	uc001arn.3	+	1	70	c.49C>G	c.(49-51)Cca>Gca	p.P17A	PEX14_uc001arm.1_Non-coding_Transcript|PEX14_uc009vmu.1_Missense_Mutation_p.P17A|PEX14_uc009vmv.3_5'UTR|PEX14_uc010oam.2_5'UTR|PEX14_uc010oan.2_Missense_Mutation_p.P17A|PEX14_uc001arl.3_Non-coding_Transcript	NM_004565	NP_004556	O75381	PEX14_HUMAN	Homo sapiens peroxisomal biogenesis factor 14 (PEX14), mRNA.	17					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		AAGCTCTACTCCAGGAAGTGA	0.428											OREG0013090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	10555343	C	G	10555343	3	3	260	1	0	0	0	0	1	0	0	0	11819	855	30	4	55	4	PEX14	1	10555343	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	4371292	10555343	238695278	2	18183											
UBR4	23352	broad.mit.edu	37	chr1	19412732	19412732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttggcattctgcagggcgGcactctcccactcttcccgg	4	11	11	15	2	3	0	0	0	3	0	5	0	4	0	2	4	1	4	2	4	0	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:19412732G>A	uc001bbi.3	-	100	14724	c.14720C>T	c.(14719-14721)gCc>gTc	p.A4907V	UBR4_uc010ocv.2_Missense_Mutation_p.A430V|UBR4_uc009vph.3_Missense_Mutation_p.A541V|UBR4_uc010ocw.2_Missense_Mutation_p.A571V|UBR4_uc001bbg.3_Missense_Mutation_p.A618V|UBR4_uc001bbh.3_Missense_Mutation_p.A616V	NM_020765	NP_065816	Q5T4S7	UBR4_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 4 (UBR4), mRNA.	4907					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CTGCAGGGCGGCACTCTCCCA	0.612													A	19412732	G	A	19412732	3	1	260	1	0	0	0	0	1	0	0	0	17006	1203	42	2	855	2	UBR4	1	19412732	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	8857389	19412732	229837889	3	18184											
FUCA1	2517	broad.mit.edu	37	chr1	24180899	24180899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaatgccatgtcacgaCgatagccccaggaaaacttg	14	6	9	12	2	1	1	1	0	0	1	1	4	1	2	3	1	3	0	3	1	4	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:24180899C>T	uc001bie.3	-	4	1003	c.920G>A	c.(919-921)cGt>cAt	p.R307H	FUCA1_uc009vqt.2_Non-coding_Transcript	NM_000147	NP_000138	P04066	FUCO_HUMAN	Homo sapiens fucosidase, alpha-L- 1, tissue (FUCA1), mRNA.	307					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		CATGTCACGACGATAGCCCCA	0.393													T	24180899	C	T	24180899	3	4	260	1	0	0	0	0	1	0	0	0	6146	536	19	1	496	1	FUCA1	1	24180899	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	4768167	24180899	225069722	4	18185											
PTPRF	5792	broad.mit.edu	37	chr1	44084401	44084401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccacatacactgtgcGcaccttcgcactccacaagg	9	7	9	16	2	0	0	0	0	0	0	2	0	1	0	3	2	2	3	3	2	2	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:44084401G>A	uc001cjr.3	+	25	4812	c.4472G>A	c.(4471-4473)cGc>cAc	p.R1491H	PTPRF_uc001cjs.3_Missense_Mutation_p.R1482H|PTPRF_uc001cju.3_Missense_Mutation_p.R880H|PTPRF_uc009vwt.3_Missense_Mutation_p.R1051H|PTPRF_uc001cjv.3_Missense_Mutation_p.R962H|PTPRF_uc001cjw.3_Missense_Mutation_p.R717H	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1491	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TACACTGTGCGCACCTTCGCA	0.572													A	44084401	G	A	44084401	3	1	260	1	0	0	0	0	1	0	0	0	12889	1087	38	1	4566	1	PTPRF	1	44084401	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	19903502	44084401	205166220	5	18186											
MUTYH	4595	broad.mit.edu	37	chr1	45797967	45797967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgggctgggtccaccagCtgctgggctagacccctaaa	7	6	14	14	1	0	1	0	0	0	1	1	1	1	1	5	4	2	4	5	4	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:45797967C>T	uc001cnm.3	-	9	1011	c.795G>A	c.(793-795)caG>caA	p.Q265Q	MUTYH_uc001cnf.3_Silent_p.Q240Q|MUTYH_uc009vxo.3_Silent_p.Q240Q|MUTYH_uc001cng.3_Silent_p.Q251Q|MUTYH_uc001cnj.3_Silent_p.Q148Q|MUTYH_uc001cni.3_Silent_p.Q240Q|MUTYH_uc001cnh.3_Silent_p.Q241Q|MUTYH_uc001cnl.3_Silent_p.Q254Q|MUTYH_uc009vxp.3_Silent_p.Q268Q|MUTYH_uc001cnn.3_Silent_p.Q255Q|MUTYH_uc001cno.3_Silent_p.Q148Q|MUTYH_uc010oll.2_Intron	NM_012222	NP_036354	Q9UIF7	MUTYH_HUMAN	Homo sapiens mutY homolog (E. coli) (MUTYH), transcript variant alpha1, mRNA.	265					depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GGTCCACCAGCTGCTGGGCTA	0.597			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				T	45797967	C	T	45797967	2	4	260	1	0	0	0	0	0	0	0	1	10069	796	28	2		2	MUTYH	1	45797967	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	1713566	45797967	203452654	6	18187											
DENND2C	163259	broad.mit.edu	37	chr1	115167981	115167981	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctacgaggttttggcaaagGatttatggaaggtccacatt	11	12	11	7	1	0	0	0	0	0	0	1	3	1	2	2	5	1	2	2	5	4	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:115167981G>C	uc001efd.1	-	3	1327	c.625C>G	c.(625-627)Cct>Gct	p.P209A	DENND2C_uc001eez.3_Non-coding_Transcript|DENND2C_uc001efc.1_Missense_Mutation_p.P209A	NM_198459	NP_940861	Q68D51	DEN2C_HUMAN	Homo sapiens DENN/MADD domain containing 2C (DENND2C), transcript variant 2, mRNA.	209										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTGGCAAAGGATTTATGGAA	0.378													C	115167981	G	C	115167981	3	2	260	1	0	0	0	0	1	0	0	0	4469	1174	41	4	2058	4	DENND2C	1	115167981	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	69370014	115167981	134082640	7	18188											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785226	149785226	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgcgggcagtctgcttaGtacgggccatgctgtctcat	6	12	12	11	2	2	0	1	0	2	0	3	0	2	0	1	2	4	4	1	2	2	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:149785226G>C	uc010pbl.2	-	0	11	c.11C>G	c.(10-12)aCt>aGt	p.T4S	HIST2H2BF_uc010pbj.2_5'Flank|HIST2H2BF_uc010pbk.2_5'Flank|HIST2H2BF_uc001esr.3_5'Flank	NM_001123375	NP_001116847	Q71DI3	H32_HUMAN	Homo sapiens histone cluster 2, H3d (HIST2H3D), mRNA.	4					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						AGTCTGCTTAGTACGGGCCAT	0.567													C	149785226	G	C	149785226	3	2	260	1	0	0	0	0	1	0	0	0	7236	1029	36	4	401	4	HIST2H3D	1	149785226	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	34617245	149785226	99465395	8	18189											
FLG	2312	broad.mit.edu	37	chr1	152285914	152285914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgctggtcccggtccgtCcatgggcagagtcaggctgt	5	9	15	12	2	1	1	1	0	0	1	4	1	4	1	3	4	1	3	3	4	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:152285914C>A	uc001ezu.1	-	2	1484	c.1448G>T	c.(1447-1449)gGa>gTa	p.G483V	AK056431_uc001ezv.3_5'Flank	NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	483	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCGGTCCGTCCATGGGCAGA	0.607									Ichthyosis				A	152285914	C	A	152285914	3	1	260	1	0	0	0	0	1	0	0	0	5971	855	30	4	10741	4	FLG	1	152285914	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	2500688	152285914	96964707	9	18190											
UBAP2L	9898	broad.mit.edu	37	chr1	154242707	154242707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaacgtagccagaccagctCcatcccgcagaagccccaga	12	3	9	17	2	0	3	0	0	0	3	2	3	2	3	6	0	4	4	6	0	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:154242707C>T	uc001fep.4	+	26	3367	c.3200C>T	c.(3199-3201)tCc>tTc	p.S1067F	UBAP2L_uc010pel.2_Intron|UBAP2L_uc001feq.3_Intron|UBAP2L_uc001fer.3_Missense_Mutation_p.S280F|HAX1_uc001fet.3_5'Flank|HAX1_uc001fes.3_5'Flank|HAX1_uc010peo.2_5'Flank|HAX1_uc009wou.3_5'Flank	NM_014847	NP_055662	Q14157	UBP2L_HUMAN	Homo sapiens ubiquitin associated protein 2-like (UBAP2L), transcript variant 1, mRNA.	1067					binding of sperm to zona pellucida		protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CAGACCAGCTCCATCCCGCAG	0.562													T	154242707	C	T	154242707	3	4	260	1	0	0	0	0	1	0	0	0	16940	855	30	2	3356	2	UBAP2L	1	154242707	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	1956793	154242707	95007914	10	18191											
SMG7	9887	broad.mit.edu	37	chr1	183486872	183486872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacactgcaaggccaggcaAagaatcgagcaaatccgaat	17	4	9	11	2	0	1	0	0	0	1	2	3	1	1	2	2	3	3	2	2	6	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr1:183486872A>G	uc001gqg.3	+	3	479	c.229A>G	c.(229-231)Aag>Gag	p.K77E	SMG7_uc010pob.2_Missense_Mutation_p.K106E|SMG7_uc021pga.1_Missense_Mutation_p.K35E|SMG7_uc001gqf.3_Missense_Mutation_p.K77E|SMG7_uc001gqh.3_Missense_Mutation_p.K77E|SMG7_uc010poc.2_Missense_Mutation_p.K35E	NM_173156	NP_775179	Q92540	SMG7_HUMAN	Homo sapiens smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans) (SMG7), transcript variant 1, mRNA.	77					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						AGGCCAGGCAAAGAATCGAGC	0.443													G	183486872	A	G	183486872	3	3	260	1	0	0	0	0	1	0	0	0	14892	15	1	3	243	3	SMG7	1	183486872	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	29244165	183486872	65763749	11	18192											
APOB	338	broad.mit.edu	37	chr2	21230333	21230333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattattgtgtaaggtagaCgcatttcaggaattgttaaa	13	15	10	3	1	1	2	1	1	0	1	1	3	1	3	0	2	0	4	0	2	6	7			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:21230333C>T	uc002red.3	-	25	9535	c.9407G>A	c.(9406-9408)cGt>cAt	p.R3136H		NM_000384	NP_000375	P04114	APOB_HUMAN	Homo sapiens apolipoprotein B (including Ag(x) antigen) (APOB), mRNA.	3136					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.R3136H(2)|p.R3136C(2)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GTAAGGTAGACGCATTTCAGG	0.373													T	21230333	C	T	21230333	3	4	260	1	0	0	0	0	1	0	0	0	788	536	19	1	4300	1	APOB	2	21230333	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		21230333	221969040	12	18193											
NRXN1	9378	broad.mit.edu	37	chr2	50573861	50573861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaggatgccggtgacctgTagattgcaataggcactgaa	12	8	13	8	1	0	3	0	2	0	1	0	4	0	4	2	3	2	4	2	3	5	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:50573861T>C	uc021vhh.1	-						NRXN1_uc010fbp.3_Missense_Mutation_p.Y76C|NRXN1_uc002rxb.4_Intron|NRXN1_uc021vhg.1_Intron|NRXN1_uc021vhi.1_Intron|NRXN1_uc021vhj.1_Intron|NRXN1_uc002rxc.1_Intron	NM_004801	NP_004792	Q9ULB1	NRX1A_HUMAN	Homo sapiens neurexin 1 (NRXN1), transcript variant alpha1, mRNA.						adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGGTGACCTGTAGATTGCAAT	0.602													C	50573861	T	C	50573861	3	2	260	1	0	0	0	0	1	0	0	0	10741	1638	57	3	1219	3	NRXN1	2	50573861	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	29343528	50573861	192625512	13	18194											
ETAA1	54465	broad.mit.edu	37	chr2	67631223	67631226	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															ttcaccaaattcaaataaatCaaacaaattatccactggaa																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:67631223_67631226delCAAA	uc002sdz.1	+	4	1548_1551	c.1409_1412delCAAA	c.(1408-1413)tcaaacfs	p.S470fs		NM_019002	NP_061875	Q9NY74	ETAA1_HUMAN	Homo sapiens Ewing tumor-associated antigen 1 (ETAA1), mRNA.	470						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TCAAATAAATCAAACAAATTATCC	0.265													-	67631226	CAAA	-	67631223	7	5	260	1	0	1	0	1	0	0	0	0	5308	838	29	0	1427	0	ETAA1	2	67631223	Frame_Shift_Del	DEL	CAAA	TCGA-76-4928-01B-01D-1486-08	17057362	67631223	175568150	14	18195											
SLC9A4	389015	broad.mit.edu	37	chr2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctaaagagattctgatcCgccgccagaacaccttaagg	13	7	10	11	2	1	3	0	1	1	2	2	4	2	3	4	2	1	1	4	2	4	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr2:103141552C>T	uc002tbz.4	+	9	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552	NP_001011552	Q6AI14	SL9A4_HUMAN	Homo sapiens solute carrier family 9 (sodium/hydrogen exchanger), member 4 (SLC9A4), mRNA.	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502													T	103141552	C	T	103141552	3	4	260	1	0	0	0	0	1	0	0	0	14810	652	23	1	1926	1	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	35510329	103141552	140057821	15	18196											
TRANK1	9881	broad.mit.edu	37	chr3	36898731	36898731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaggtcatgttatcgaagtCctggaggcaggcctcaatct	9	10	11	11	1	3	0	2	0	1	0	5	2	4	1	3	4	0	2	3	4	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:36898731C>T	uc003cgj.3	-	11	2598	c.2350G>A	c.(2350-2352)Gac>Aac	p.D784N		NM_014831	NP_055646	O15050	TRNK1_HUMAN	Homo sapiens tetratricopeptide repeat and ankyrin repeat containing 1 (TRANK1), mRNA.	784					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTATCGAAGTCCTGGAGGCAG	0.502													T	36898731	C	T	36898731	3	4	260	1	0	0	0	0	1	0	0	0	16555	855	30	2	6475	2	TRANK1	3	36898731	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		36898731	161123699	16	18197											
CEP97	79598	broad.mit.edu	37	chr3	101451368	101451368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttaactgaattggaacagTtgtcgattatgaacaatcct	13	13	7	8	1	0	2	0	2	0	0	2	4	1	3	2	1	3	1	2	1	6	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:101451368T>G	uc003dvk.1	+	5	625	c.598T>G	c.(598-600)Ttg>Gtg	p.L200V	CEP97_uc010hpm.1_Missense_Mutation_p.L166V|CEP97_uc011bhf.1_Missense_Mutation_p.L200V|CEP97_uc003dvl.1_5'UTR|CEP97_uc003dvm.1_Missense_Mutation_p.L38V	NM_024548	NP_078824	Q8IW35	CEP97_HUMAN	Homo sapiens centrosomal protein 97kDa (CEP97), mRNA.	200						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGGAACAGTTGTCGATTAT	0.418													G	101451368	T	G	101451368	3	3	260	1	0	0	0	0	1	0	0	0	3293	1722	60	5	620	5	CEP97	3	101451368	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	64552637	101451368	96571062	17	18198											
TMPRSS7	344805	broad.mit.edu	37	chr3	111799811	111799811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaaaagtgatggaaaatgGattttgactggcattgttag	15	12	12	2	0	0	3	0	2	0	1	0	5	0	5	0	3	0	2	0	3	5	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:111799811G>T	uc010hqb.2	+	15	2204	c.2034G>T	c.(2032-2034)tgG>tgT	p.W678C	TMPRSS7_uc011bhr.1_Missense_Mutation_p.W533C	NM_001042575	NP_001036040	Q7RTY8	TMPS7_HUMAN	Homo sapiens transmembrane protease, serine 7 (TMPRSS7), transcript variant 1, mRNA.	804	Peptidase S1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						ATGGAAAATGGATTTTGACTG	0.403													T	111799811	G	T	111799811	3	4	260	1	0	0	0	0	1	0	0	0	16352	1183	41	4	2092	4	TMPRSS7	3	111799811	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	10348443	111799811	86222619	18	18199											
MECOM	2122	broad.mit.edu	37	chr3	168849257	168849257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcatggggatagtcttcGctcttcatgaacagcagaag	10	12	11	8	1	4	2	2	1	2	1	5	3	4	3	0	2	2	3	0	2	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:168849257G>A	uc011bpj.1	-	3	976	c.573C>T	c.(571-573)agC>agT	p.S191S	MECOM_uc010hwk.1_Silent_p.S26S|MECOM_uc003ffj.3_Silent_p.S67S|MECOM_uc003ffi.3_Silent_p.S3S|MECOM_uc011bpi.1_Silent_p.S3S|MECOM_uc003ffn.3_Silent_p.S3S|MECOM_uc003ffk.2_Silent_p.S3S|MECOM_uc003ffl.2_Silent_p.S163S|MECOM_uc011bpk.1_Silent_p.S3S|MECOM_uc010hwn.2_Silent_p.S191S|MECOM_uc003ffm.1_Silent_p.S67S	NM_004991	NP_004982	Q13465	MDS1_HUMAN	Homo sapiens MDS1 and EVI1 complex locus (MECOM), transcript variant 4, mRNA.	98							sequence-specific DNA binding transcription factor activity	p.C190G(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458													A	168849257	G	A	168849257	2	1	260	1	0	0	0	0	0	0	0	1	9497	1078	38	1		1	MECOM	3	168849257	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	57049446	168849257	29173173	19	18200											
PIK3CA	5290	broad.mit.edu	37	chr3	178916854	178916854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagaagcagaaagggaaGaattttttgatgaaacaaga	19	8	10	4	0	1	6	1	2	0	4	1	7	1	7	0	1	2	1	0	1	7	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:178916854G>A	uc003fjk.3	+	1	398	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	81	PI3K-ABD.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E81K(18)|p.E80K(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAAAGGGAAGAATTTTTTGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916854	G	A	178916854	3	1	260	1	0	0	0	0	1	0	0	0	11990	943	33	2	243	2	PIK3CA	3	178916854	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	10067597	178916854	19105576	20	18201											
LAMP3	27074	broad.mit.edu	37	chr3	182870190	182870190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgagattcacaaatccGccctgaaaattcaacagaag	17	8	7	9	1	2	3	2	2	0	2	3	4	3	3	2	0	1	0	2	0	6	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:182870190G>A	uc003flh.4	-	2	1085	c.861C>T	c.(859-861)ggC>ggT	p.G287G		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	287					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			TCACAAATCCGCCCTGAAAAT	0.512													A	182870190	G	A	182870190	2	1	260	1	0	0	0	0	0	0	0	1	8678	1074	38	1		1	LAMP3	3	182870190	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	3953336	182870190	15152240	21	18202											
LSG1	55341	broad.mit.edu	37	chr3	194373563	194373563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agatggctaaaattgtgtatCtgcctcttctgtggggtttt	7	17	11	6	0	3	1	0	0	3	1	3	1	3	1	1	3	1	3	1	3	3	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr3:194373563C>T	uc003fui.3	-	7	1383	c.1068G>A	c.(1066-1068)caG>caA	p.Q356Q		NM_018385	NP_060855	Q9H089	LSG1_HUMAN	Homo sapiens large subunit GTPase 1 homolog (S. cerevisiae) (LSG1), mRNA.	356					nuclear export|protein transport	Cajal body|endoplasmic reticulum	GTP binding|hydrolase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)	16	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;4.34e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;7.55e-06)		AATTGTGTATCTGCCTCTTCT	0.507													T	194373563	C	T	194373563	2	4	260	1	0	0	0	0	0	0	0	1	9119	912	32	2		2	LSG1	3	194373563	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	11503373	194373563	3648867	22	18203											
PCDH7	5099	broad.mit.edu	37	chr4	30725808	30725808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaaaagatcacgaagacTtttttacaccccaacagcat	17	8	5	11	1	1	2	1	0	0	2	1	3	1	2	2	0	3	2	2	0	6	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:30725808T>C	uc003gsk.1	+	0	3772	c.2764T>C	c.(2764-2766)Ttt>Ctt	p.F922L	PCDH7_uc011bxx.2_Missense_Mutation_p.F922L|PCDH7_uc021xnd.1_Missense_Mutation_p.F922L|PCDH7_uc021xnc.1_Missense_Mutation_p.F922L	NM_002589	NP_002580	O60245	PCDH7_HUMAN	Homo sapiens protocadherin 7 (PCDH7), transcript variant a, mRNA.	922					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TCACGAAGACTTTTTTACACC	0.383													C	30725808	T	C	30725808	3	2	260	1	0	0	0	0	1	0	0	0	11592	1609	56	3	2766	3	PCDH7	4	30725808	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08		30725808	160428468	23	18204											
SMR3A	10879	broad.mit.edu	37	chr4	71255518	71255518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatcccacctcctcctcccGcaccctatggtccagggata	8	8	7	18	1	0	0	0	0	0	0	5	2	5	1	7	2	0	1	7	2	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:71255518G>A	uc011cas.2	+	2	274	c.193G>A	c.(193-195)Gca>Aca	p.A65T	SMR3A_uc003hfh.3_Missense_Mutation_p.A65T	NM_006685	NP_006676	Q99954	SMR3A_HUMAN	Homo sapiens submaxillary gland androgen regulated protein 3B (SMR3B), mRNA.	69	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				TCCTCCTCCCGCACCCTATGG	0.602													A	71255518	G	A	71255518	3	1	260	1	0	0	0	0	1	0	0	0	14905	1087	38	1		1	SMR3A	4	71255518	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	40529710	71255518	119898758	24	18205											
AFM	173	broad.mit.edu	37	chr4	74364954	74364954	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaagagtttgcctgtgtTgataatttggtgagcatggc	9	14	14	4	0	0	4	0	3	0	1	0	4	0	4	1	2	2	3	1	2	2	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:74364954T>A	uc003hhb.3	+	10	1444	c.1413T>A	c.(1411-1413)gtT>gtA	p.V471V		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	471	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGCCTGTGTTGATAATTTGG	0.388													A	74364954	T	A	74364954	2	1	260	1	0	0	0	0	0	0	0	1	361	1799	63	5		5	AFM	4	74364954	Silent	SNP	T	TCGA-76-4928-01B-01D-1486-08	3109436	74364954	116789322	25	18206											
KLHL8	57563	broad.mit.edu	37	chr4	88091238	88091238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatttactcaccaactacGtataagcaaccatgaagctt	14	10	4	13	1	1	1	1	1	0	0	1	1	1	1	3	0	6	3	3	0	7	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:88091238G>A	uc011cdb.1	-	7	1915	c.1530C>T	c.(1528-1530)taC>taT	p.Y510Y	KLHL8_uc003hql.1_Silent_p.Y510Y|KLHL8_uc003hqm.1_Silent_p.Y434Y|KLHL8_uc003hqn.1_Silent_p.Y327Y|KLHL8_uc010ikj.1_Silent_p.Y159Y	NM_020803	NP_065854	Q9P2G9	KLHL8_HUMAN	Homo sapiens kelch-like 8 (Drosophila) (KLHL8), mRNA.	510										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CACCAACTACGTATAAGCAAC	0.358													A	88091238	G	A	88091238	2	1	260	1	0	0	0	0	0	0	0	1	8453	1140	40	1		1	KLHL8	4	88091238	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	13726284	88091238	103063038	26	18207											
ADH1A	124	broad.mit.edu	37	chr4	100208729	100208729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtatttcaccttaatacGaacttcatgggccttaggag	12	13	8	8	1	2	0	2	0	0	0	2	2	2	1	2	2	2	1	2	2	6	6			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:100208729G>A	uc003hur.2	-	1	226	c.112C>T	c.(112-114)Cgt>Tgt	p.R38C	LOC100507053_uc003hum.2_Intron|ADH1A_uc010ilf.1_5'Flank|ADH1A_uc010ilg.2_Missense_Mutation_p.R38C	NM_000667	NP_000658	P07327	ADH1A_HUMAN	Homo sapiens alcohol dehydrogenase 1A (class I), alpha polypeptide (ADH1A), mRNA.	38					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACCTTAATACGAACTTCATGG	0.348													A	100208729	G	A	100208729	3	1	260	1	0	0	0	0	1	0	0	0	307	1058	37	1	1047	1	ADH1A	4	100208729	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	12117491	100208729	90945547	27	18208											
DCHS2	54798	broad.mit.edu	37	chr4	155241881	155241881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatgagaaatggattcGtgccagggttgtgggattca	9	11	17	4	1	1	1	1	1	0	1	2	5	1	4	1	5	1	1	1	5	1	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:155241881G>A	uc003inw.2	-	13	3305	c.3305C>T	c.(3304-3306)aCg>aTg	p.T1102M		NM_017639	NP_060109	Q6V1P9	PCD23_HUMAN	Homo sapiens dachsous 2 (Drosophila) (DCHS2), transcript variant 1, mRNA.	1102	Cadherin 9.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AAATGGATTCGTGCCAGGGTT	0.453													A	155241881	G	A	155241881	3	1	260	1	0	0	0	0	1	0	0	0	4322	1145	40	1	5493	1	DCHS2	4	155241881	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	55033152	155241881	35912395	28	18209											
TLL1	7092	broad.mit.edu	37	chr4	166964454	166964454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgagatacgtaaaaaTgaaggacagattcagtctcc	15	8	12	6	1	2	3	1	2	1	2	3	6	2	5	1	3	1	1	1	3	5	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:166964454T>C	uc003irh.2	+	11	2054	c.1407T>C	c.(1405-1407)aaT>aaC	p.N469N	TLL1_uc011cjn.2_Silent_p.N469N|TLL1_uc011cjo.2_Silent_p.N293N	NM_012464	NP_036596	O43897	TLL1_HUMAN	Homo sapiens tolloid-like 1 (TLL1), transcript variant 1, mRNA.	469	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TACGTAAAAATGAAGGACAGA	0.408													C	166964454	T	C	166964454	2	2	260	1	0	0	0	0	0	0	0	1	16045	1461	51	3		3	TLL1	4	166964454	Silent	SNP	T	TCGA-76-4928-01B-01D-1486-08	11722573	166964454	24189822	29	18210											
GALNT7	51809	broad.mit.edu	37	chr4	174235303	174235303	+	Frame_Shift_Del	DEL	A	A	-																															acctcacactaccctttgccAcccaaaaatgttgactgggg																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr4:174235303delA	uc003isz.4	+	8	1667	c.1584delA	c.(1582-1584)ccafs	p.P528fs	GALNT7_uc011ckb.2_Frame_Shift_Del_p.P305fs	NM_017423	NP_059119	Q86SF2	GALT7_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 7 (GalNAc-T7) (GALNT7), mRNA.	528					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|liver(1)|lung(9)	19		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;1.87e-18)|Epithelial(43;3.44e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-09)|STAD - Stomach adenocarcinoma(60;0.0019)|GBM - Glioblastoma multiforme(59;0.0119)|LUSC - Lung squamous cell carcinoma(193;0.0199)		ACCCTTTGCCACCCAAAAATG	0.393													-	174235303	A	-	174235303	7	5	260	1	0	1	0	1	0	0	0	0	6272	146	6	0	1618	0	GALNT7	4	174235303	Frame_Shift_Del	DEL	A	TCGA-76-4928-01B-01D-1486-08	7270849	174235303	16918973	30	18211											
ANKRD55	79722	broad.mit.edu	37	chr5	55407551	55407551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgagcacgttgaaccGtctctccttcttctggggcc	4	14	11	12	2	3	2	0	2	3	0	5	2	4	2	3	3	2	3	3	3	1	5	rs147414262	byFrequency	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:55407551G>A	uc003jqu.3	-	9	1176	c.1024C>T	c.(1024-1026)Cgg>Tgg	p.R342W	ANKRD55_uc003jqt.3_Missense_Mutation_p.R54W	NM_024669	NP_078945	Q3KP44	ANR55_HUMAN	Homo sapiens ankyrin repeat domain 55 (ANKRD55), mRNA.	341										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				ACGTTGAACCGTCTCTCCTTC	0.512													A	55407551	G	A	55407551	3	1	260	1	0	0	0	0	1	0	0	0	681	1144	40	1	832	1	ANKRD55	5	55407551	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		55407551	125507709	31	18212											
FBN2	2201	broad.mit.edu	37	chr5	127729056	127729056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatgcaaagtctgcgatAttcctctagaagaaaagaaa	17	9	7	8	1	2	3	0	0	2	3	4	4	4	3	2	0	2	1	2	0	7	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:127729056A>G	uc003kuu.3	-	9	1676	c.1237T>C	c.(1237-1239)Tat>Cat	p.Y413H	FBN2_uc003kuv.2_Missense_Mutation_p.Y380H	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	413	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTCTGCGATATTCCTCTAGA	0.473													G	127729056	A	G	127729056	3	3	260	1	0	0	0	0	1	0	0	0	5752	449	16	3	7725	3	FBN2	5	127729056	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	72321505	127729056	53186204	32	18213											
SPOCK1	6695	broad.mit.edu	37	chr5	136314406	136314406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcatcctctgtcacGgctcgggtgtgcaccctcag	5	11	9	16	2	5	0	4	0	1	0	8	0	7	0	3	2	1	2	3	2	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:136314406G>A	uc003lbo.3	-	9	1448	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	SPOCK1_uc003lbp.3_Silent_p.A419A	NM_004598	NP_004589	Q08629	TICN1_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1 (SPOCK1), mRNA.	419					cell adhesion|cell proliferation|cellular component movement|nervous system development|signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCTCTGTCACGGCTCGGGTGT	0.522													A	136314406	G	A	136314406	2	1	260	1	0	0	0	0	0	0	0	1	15175	1103	39	1		1	SPOCK1	5	136314406	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	8585350	136314406	44600854	33	18214											
PCDHAC2	56146	broad.mit.edu	37	chr5	140174848	140174848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtgcgggcggagcgCggaatgtagcatccacgtgg	7	6	19	9	5	0	0	0	0	0	0	1	3	1	3	1	5	4	3	1	5	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140174848C>T	uc003lhd.2	+	0	405	c.299C>T	c.(298-300)gCg>gTg	p.A100V	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhc.1_Missense_Mutation_p.A100V|PCDHAC2_uc011czy.2_Missense_Mutation_p.A100V	NM_018905	NP_061728	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 2 (PCDHA2), transcript variant 1, mRNA.	115	Cadherin 1.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCGGAGCGCGGAATGTAGC	0.542													T	140174848	C	T	140174848	3	4	260	1	0	0	0	0	1	0	0	0	11609	768	27	1		1	PCDHAC2	5	140174848	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	3860442	140174848	40740412	34	18215											
PCDHB6	56130	broad.mit.edu	37	chr5	140531524	140531524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcccttcgtgttgtacccGctgcagaacggctccgcgcc	4	9	11	17	6	0	1	0	0	0	1	3	1	1	1	4	1	3	5	4	1	2	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:140531524G>A	uc003lir.3	+	0	1686	c.1686G>A	c.(1684-1686)ccG>ccA	p.P562P		NM_018939	NP_061762	Q9Y5E3	PCDB6_HUMAN	Homo sapiens protocadherin beta 6 (PCDHB6), mRNA.	562					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTGTACCCGCTGCAGAACG	0.726													A	140531524	G	A	140531524	2	1	260	1	0	0	0	0	0	0	0	1	11622	1074	38	1		1	PCDHB6	5	140531524	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	356676	140531524	40383736	35	18216											
UNC5A	90249	broad.mit.edu	37	chr5	176301280	176301280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacaacccccatctgcTcaccatccagccggacctca	10	6	6	19	1	3	1	2	0	1	1	4	2	4	2	6	1	4	2	6	1	1	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr5:176301280T>C	uc003mey.3	+	7	1283	c.1091T>C	c.(1090-1092)cTc>cCc	p.L364P	UNC5A_uc010jkg.1_Missense_Mutation_p.L324P	NM_133369	NP_588610	Q6ZN44	UNC5A_HUMAN	Homo sapiens unc-5 homolog A (C. elegans) (UNC5A), mRNA.	364					apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCATCTGCTCACCATCCAG	0.642													C	176301280	T	C	176301280	3	2	260	1	0	0	0	0	1	0	0	0	17093	1551	54	3	1121	3	UNC5A	5	176301280	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	35769756	176301280	4613980	36	18217											
SKIV2L	6499	broad.mit.edu	37	chr6	31936254	31936254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagggtgggctccgggcccGgaagctggaggagctgatcc	7	5	19	10	2	0	2	0	1	0	1	2	5	2	5	3	6	2	3	3	6	1	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:31936254G>A	uc003nyn.1	+	23	3397	c.3008G>A	c.(3007-3009)cGg>cAg	p.R1003Q	SKIV2L_uc011dou.1_Missense_Mutation_p.R845Q|SKIV2L_uc011dov.1_Missense_Mutation_p.R810Q|STK19_uc003nyt.3_5'Flank	NM_006929	NP_008860	Q15477	SKIV2_HUMAN	Homo sapiens superkiller viralicidic activity 2-like (S. cerevisiae) (SKIV2L), mRNA.	1003						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						CTCCGGGCCCGGAAGCTGGAG	0.632													A	31936254	G	A	31936254	3	1	260	1	0	0	0	0	1	0	0	0	14453	1116	39	1	3102	1	SKIV2L	6	31936254	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		31936254	139178813	37	18218											
DNAH8	1769	broad.mit.edu	37	chr6	38903432	38903432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataagcggaagatgaaagAacttgaagataacctcctct	17	9	8	7	1	1	5	0	2	1	3	2	6	2	6	2	1	3	0	2	1	7	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:38903432A>G	uc021yzh.1	+	76	11631	c.11522A>G	c.(11521-11523)gAa>gGa	p.E3841G	DNAH8_uc003ooe.2_Missense_Mutation_p.E3624G|DNAH8_uc003oog.1_Missense_Mutation_p.E73G|LOC100131047_uc003oof.2_Intron	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGATGAAAGAACTTGAAGAT	0.308													G	38903432	A	G	38903432	3	3	260	1	0	0	0	0	1	0	0	0	4646	246	9	3	11161	3	DNAH8	6	38903432	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	6967178	38903432	132211635	38	18219											
PKHD1	5314	broad.mit.edu	37	chr6	51497434	51497434	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaggccacagaggacAgggaagcagccaggatgatg	13	3	16	9	0	0	3	0	2	0	1	0	6	0	6	3	4	2	1	3	4	1	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:51497434A>T	uc003pah.1	-	64	11870	c.11594T>A	c.(11593-11595)cTg>cAg	p.L3865Q		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3865					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CACAGAGGACAGGGAAGCAGC	0.478													T	51497434	A	T	51497434	3	4	260	1	0	0	0	0	1	0	0	0	12048	188	7	5	642	5	PKHD1	6	51497434	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	12594002	51497434	119617633	39	18220											
DLL1	28514	broad.mit.edu	37	chr6	170592139	170592140	+	Frame_Shift_Ins	INS	-	-	TC																															acaccgactggtacttggtgINStcttttgaagttgaacagcc																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr6:170592139_170592140insTC	uc003qxm.3	-	9	2572_2573	c.2102_2103insGA	c.(2101-2103)gacfs	p.D701fs		NM_005618	NP_005609	O00548	DLL1_HUMAN	Homo sapiens delta-like 1 (Drosophila) (DLL1), mRNA.	701					cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		GGTACTTGGTGTCTTTTGAAGT	0.485													TC	170592140	-	TC	170592139	7	5	260	1	0	1	1	0	0	0	0	0	4605	1368	48	0	76	0	DLL1	6	170592139	Frame_Shift_Ins	INS	-	TCGA-76-4928-01B-01D-1486-08	119094705	170592139	522928	40	18221											
ZNF679	168417	broad.mit.edu	37	chr7	63709526	63709526	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgggatcccctggaagcCgagaaatggtgagtgctggg	9	6	17	9	2	0	2	0	1	0	1	1	6	1	4	4	4	2	1	4	4	2	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:63709526C>A	uc003tsx.3	+	1	300	c.31C>A	c.(31-33)Cga>Aga	p.R11R		NM_153363	NP_699194	Q8IYX0	ZN679_HUMAN	Homo sapiens zinc finger protein 679 (ZNF679), mRNA.	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCCTGGAAGCCGAGAAATGGT	0.572													A	63709526	C	A	63709526	2	1	260	1	0	0	0	0	0	0	0	1	18187	644	23	4		4	ZNF679	7	63709526	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08		63709526	95429137	41	18222											
GATS	352954	broad.mit.edu	37	chr7	99821643	99821643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccaccgccggacaccacGttcagggccagccaggtggc	7	4	13	17	3	1	0	1	0	0	0	1	1	1	1	6	4	2	1	6	4	0	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:99821643G>A	uc003uua.4	-	2	522	c.273C>T	c.(271-273)aaC>aaT	p.N91N	GATS_uc010lgt.3_Non-coding_Transcript|GATS_uc003uty.4_Non-coding_Transcript|GATS_uc003utz.4_Non-coding_Transcript|GATS_uc011kjl.2_5'Flank|GATS_uc010lgu.2_Non-coding_Transcript	NM_178831	NP_849153	Q8NAP1	GATS_HUMAN	Homo sapiens GATS, stromal antigen 3 opposite strand (GATS), transcript variant 1, mRNA.	91										endometrium(2)|large_intestine(2)|lung(4)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CGGACACCACGTTCAGGGCCA	0.622													A	99821643	G	A	99821643	2	1	260	1	0	0	0	0	0	0	0	1	6318	1136	40	1		1	GATS	7	99821643	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	36112117	99821643	59317020	42	18223											
C7orf53	286006	broad.mit.edu	37	chr7	112129963	112129963	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaataacatgatcgtaaagCgactcaaccaactcaaccaa	18	7	4	12	2	3	1	3	1	0	0	4	2	3	1	2	0	5	1	2	0	8	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:112129963C>T	uc011kmq.2	+	3	490	c.355C>T	c.(355-357)Cga>Tga	p.R119*	C7orf53_uc003vgl.3_Non-coding_Transcript|C7orf53_uc003vgm.3_Nonsense_Mutation_p.R119*	NM_001134468	NP_872403	Q8N8F7	CG053_HUMAN	Homo sapiens chromosome 7 open reading frame 53 (C7orf53), transcript variant 2, mRNA.	119						integral to membrane				endometrium(1)|large_intestine(2)|ovary(1)	4						GATCGTAAAGCGACTCAACCA	0.388													T	112129963	C	T	112129963	4	4	260	1	0	0	0	0	0	1	0	0	2426	760	27	1	365	1	C7orf53	7	112129963	Nonsense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	12308320	112129963	47008700	43	18224											
PLXNA4	91584	broad.mit.edu	37	chr7	131817922	131817922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgcgttcatgtcttggtcGctgatggctggcatcttccc	4	15	11	11	2	3	1	1	1	2	0	5	1	4	1	1	3	1	4	1	3	1	4	rs114567124	by1000genomes	TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:131817922G>A	uc003vra.4	-	30	5704	c.5475C>T	c.(5473-5475)agC>agT	p.S1825S	PLXNA4_uc003vqz.4_Silent_p.S110S	NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	1825						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGTCTTGGTCGCTGATGGCTG	0.507													A	131817922	G	A	131817922	2	1	260	1	0	0	0	0	0	0	0	1	12199	1078	38	1		1	PLXNA4	7	131817922	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	19687959	131817922	27320741	44	18225											
SVOPL	136306	broad.mit.edu	37	chr7	138305867	138305867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccaaagcgcgcatcGtggtggggtagacctgcagg	8	6	14	13	3	0	1	0	0	0	1	2	1	1	1	4	4	2	3	4	4	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:138305867G>A	uc011kqh.2	-	12	1277	c.1277C>T	c.(1276-1278)aCg>aTg	p.T426M	SVOPL_uc003vue.3_Missense_Mutation_p.T274M	NM_001139456	NP_001132928	Q8N434	SVOPL_HUMAN	Homo sapiens SVOP-like (SVOPL), transcript variant 1, mRNA.	426						integral to membrane	transmembrane transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	19						AGCGCGCATCGTGGTGGGGTA	0.597													A	138305867	G	A	138305867	3	1	260	1	0	0	0	0	1	0	0	0	15520	1145	40	1	213	1	SVOPL	7	138305867	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	6487945	138305867	20832796	45	18226											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:140453136A>T	uc003vwc.4	-	14	1860	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333	NP_004324	P15056	BRAF_HUMAN	Homo sapiens v-raf murine sarcoma viral oncogene homolog B1 (BRAF), mRNA.	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(41204)|p.V600K(615)|p.V600?(377)|p.V600R(99)|p.V600D(40)|p.V600_K601>E(30)|p.V600L(28)|p.V600A(24)|p.V600G(22)|p.V600M(22)|p.A598_T599insV(7)|p.T599_V600insT(7)|p.T599I(5)|p.V600Q(4)|p.T599_R603>I(4)|p.T599_V600insTT(3)|p.T599_V600insDFGLAT(2)|p.T599_V600>IAL(2)|p.V600_S605>EK(2)|p.T599T(2)|p.V600_S605>DV(2)|p.V600_S605>D(2)|p.V600_W604del(1)|p.V600V(1)|p.T599_V600insV(1)|p.V600>DLAT(1)|p.D594_T599del(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	260	1	0	0	0	0	1	0	0	0	1505	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	2147269	140453136	18685527	46	18227											
C7orf33	202865	broad.mit.edu	37	chr7	148288176	148288176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgggtccacgttaggggCggtccaggtcaatttaactt	7	13	13	8	2	1	0	1	0	0	0	3	0	3	0	2	5	1	2	2	5	3	5			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr7:148288176C>T	uc003wew.3	+	0	520	c.159C>T	c.(157-159)ggC>ggT	p.G53G		NM_145304	NP_660347	Q8WU49	CG033_HUMAN	Homo sapiens chromosome 7 open reading frame 33 (C7orf33), mRNA.	53								p.G53G(2)|p.G53C(1)		central_nervous_system(1)|large_intestine(4)|lung(7)|prostate(2)	14	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			ACGTTAGGGGCGGTCCAGGTC	0.512													T	148288176	C	T	148288176	2	4	260	1	0	0	0	0	0	0	0	1	2412	755	27	1		1	C7orf33	7	148288176	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	7835040	148288176	10850487	47	18228											
NPBWR1	2831	broad.mit.edu	37	chr8	53853296	53853296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccgtggtggcgctcaccAccgacctcccgcagacgccg	6	4	12	19	6	1	1	1	0	0	1	2	2	2	1	6	2	0	3	6	2	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:53853296A>G	uc011ldu.2	+	0	829	c.829A>G	c.(829-831)Acc>Gcc	p.T277A		NM_005285	NP_005276	P48145	NPBW1_HUMAN	Homo sapiens neuropeptides B/W receptor 1 (NPBWR1), mRNA.	277					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GGCGCTCACCACCGACCTCCC	0.642													G	53853296	A	G	53853296	3	3	260	1	0	0	0	0	1	0	0	0	10644	159	6	3	831	3	NPBWR1	8	53853296	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08		53853296	92510726	48	18229											
KCNS2	3788	broad.mit.edu	37	chr8	99441064	99441064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtggagagcacacctaCtttagccaacttgggcaggg	9	8	15	9	0	0	1	0	0	0	1	0	2	0	1	2	5	4	2	2	5	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr8:99441064C>A	uc003yin.3	+	1	1207	c.857C>A	c.(856-858)aCt>aAt	p.T286N	KCNS2_uc022azb.1_Missense_Mutation_p.T286N	NM_020697	NP_065748	Q9ULS6	KCNS2_HUMAN	Homo sapiens potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2 (KCNS2), mRNA.	286						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			AGCACACCTACTTTAGCCAAC	0.557													A	99441064	C	A	99441064	3	1	260	1	0	0	0	0	1	0	0	0	8147	565	20	4	859	4	KCNS2	8	99441064	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	45587768	99441064	46922958	49	18230											
FBP1	2203	broad.mit.edu	37	chr9	97367792	97367792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaaatatccctccgtagaCcagagtgcgatgaacatcag	14	7	9	11	2	1	4	1	1	0	3	3	5	3	4	3	0	2	1	3	0	4	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:97367792C>A	uc004auw.4	-	5	1103	c.772G>T	c.(772-774)Gtc>Ttc	p.V258F	FBP1_uc010mrl.3_Missense_Mutation_p.V258F	NM_000507	NP_001121100	P09467	F16P1_HUMAN	Homo sapiens fructose-1,6-bisphosphatase 1 (FBP1), transcript variant 1, mRNA.	258					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	CCTCCGTAGACCAGAGTGCGA	0.512													A	97367792	C	A	97367792	3	1	260	1	0	0	0	0	1	0	0	0	5754	507	18	4	252	4	FBP1	9	97367792	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		97367792	43845639	50	18231											
LHX2	9355	broad.mit.edu	37	chr9	126794913	126794913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgacgtccgtcttaaCttctgtgcctggcaacctgg	7	12	10	12	2	2	1	0	1	2	0	3	1	3	1	3	2	4	1	3	2	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:126794913C>T	uc010mwi.1	+	4	1911	c.1172C>T	c.(1171-1173)aCt>aTt	p.T391I	LHX2_uc004boe.1_Missense_Mutation_p.T383I	NM_004789	NP_004780	P50458	LHX2_HUMAN	Homo sapiens LIM homeobox 2 (LHX2), mRNA.	383				GHEPHSPSQTTLTNLF -> AMSLTAPHKRLLPTFSNDSQP PHPTISLKKKLSLV (in Ref. 1; AAB08752).		nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCCGTCTTAACTTCTGTGCCT	0.592													T	126794913	C	T	126794913	3	4	260	1	0	0	0	0	1	0	0	0	8831	565	20	2	1166	2	LHX2	9	126794913	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	29427121	126794913	14418518	51	18232											
PNPLA7	375775	broad.mit.edu	37	chr9	140374853	140374853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtccagggtgtgagcgTgccatctacctggtagagca	7	9	15	10	1	1	2	0	1	1	1	2	2	2	2	3	3	4	2	3	3	2	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr9:140374853T>C	uc010ncj.1	-	22	2828	c.2491A>G	c.(2491-2493)Acg>Gcg	p.T831A	PNPLA7_uc004cnd.1_Missense_Mutation_p.T72A|PNPLA7_uc004cne.1_Missense_Mutation_p.T72A|PNPLA7_uc011mfa.1_Missense_Mutation_p.T214A|PNPLA7_uc004cnf.2_Missense_Mutation_p.T806A	NM_001098537	NP_001092007	Q6ZV29	PLPL7_HUMAN	Homo sapiens patatin-like phospholipase domain containing 7 (PNPLA7), transcript variant 1, mRNA.	806					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GGTGTGAGCGTGCCATCTACC	0.662													C	140374853	T	C	140374853	3	2	260	1	0	0	0	0	1	0	0	0	12247	1696	59	3	1589	3	PNPLA7	9	140374853	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	13579940	140374853	838578	52	18233											
FAM196A	642938	broad.mit.edu	37	chr10	128974485	128974485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacagctgtgtgtccctctGctcattctgtgcctcgcaga	5	12	11	13	1	3	1	1	0	2	1	5	2	4	2	2	1	3	3	2	1	0	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr10:128974485G>A	uc001lju.1	-	0	216	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	DOCK1_uc001ljt.3_Intron|DOCK1_uc010qun.2_Intron|FAM196A_uc010quo.1_Nonsense_Mutation_p.Q59*|FAM196A_uc001ljv.1_Nonsense_Mutation_p.Q59*|FAM196A_uc009yap.1_Nonsense_Mutation_p.Q59*	NM_001039762	NP_001034851	Q6ZSG2	F196A_HUMAN	Homo sapiens family with sequence similarity 196, member A (FAM196A), mRNA.	59										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GTGTCCCTCTGCTCATTCTGT	0.587													A	128974485	G	A	128974485	4	1	260	1	0	0	0	0	0	1	0	0	5575	1328	46	2	1276	2	FAM196A	10	128974485	Nonsense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		128974485	6560262	53	18234											
LUZP2	338645	broad.mit.edu	37	chr11	25100153	25100153	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgaaaaaagccccagaaaaAccattgaccagctttgaagg	17	6	9	9	0	0	4	0	3	0	1	0	4	0	4	4	1	3	1	4	1	6	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:25100153A>G	uc001mqs.3	+	11	1264	c.990A>G	c.(988-990)aaA>aaG	p.K330K	LUZP2_uc009yif.3_Silent_p.K244K|LUZP2_uc009yig.3_Silent_p.K288K	NM_001009909	NP_001009909	Q86TE4	LUZP2_HUMAN	Homo sapiens leucine zipper protein 2 (LUZP2), transcript variant 1, mRNA.	330						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CCCCAGAAAAACCATTGACCA	0.348													G	25100153	A	G	25100153	2	3	260	1	0	0	0	0	0	0	0	1	9157	40	2	3		3	LUZP2	11	25100153	Silent	SNP	A	TCGA-76-4928-01B-01D-1486-08		25100153	109906363	54	18235											
ARHGAP20	57569	broad.mit.edu	37	chr11	110495025	110495025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttattttttatcttaaagtTattgttatatctagaaagat	13	22	4	2	0	2	2	0	0	2	2	2	2	2	2	0	0	0	2	0	0	9	11			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:110495025T>C	uc001pkz.1	-	4	649	c.364A>G	c.(364-366)Aac>Gac	p.N122D	ARHGAP20_uc001pky.1_Missense_Mutation_p.N99D|ARHGAP20_uc009yyb.1_Missense_Mutation_p.N86D|ARHGAP20_uc001pla.1_Missense_Mutation_p.N86D	NM_020809	NP_065860	Q9P2F6	RHG20_HUMAN	Homo sapiens Rho GTPase activating protein 20 (ARHGAP20), mRNA.	122	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		atCTTAAAGTTATTGTTATAT	0.333													C	110495025	T	C	110495025	3	2	260	1	0	0	0	0	1	0	0	0	873	1754	61	3	3259	3	ARHGAP20	11	110495025	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	85394872	110495025	24511491	55	18236											
TMPRSS13	84000	broad.mit.edu	37	chr11	117789400	117789400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgtaccagctggagatgCctgggctggagatgcccggc	7	7	17	10	1	0	2	0	0	0	2	0	4	0	2	3	5	4	3	3	5	1	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:117789400C>T	uc001prs.2	-	1	321	c.175G>A	c.(175-177)Gca>Aca	p.A59T	TMPRSS13_uc009yzr.2_Missense_Mutation_p.A59T|TMPRSS13_uc021qrc.1_Missense_Mutation_p.A59T|TMPRSS13_uc001prt.1_5'UTR|TMPRSS13_uc001pru.2_Missense_Mutation_p.A59T	NM_001077263	NP_001070731	Q9BYE2	TMPSD_HUMAN	Homo sapiens transmembrane protease, serine 13 (TMPRSS13), transcript variant 1, mRNA.	59	12 X 5 AA repeats of A-S-P-A-[GLQR].|4 X 5 AA repeats of T-P-P-G-R.|Ala-rich.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GCTGGAGATGCCTGGGCTGGA	0.697													T	117789400	C	T	117789400	3	4	260	1	0	0	0	0	1	0	0	0	16345	739	26	2	1576	2	TMPRSS13	11	117789400	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	7294375	117789400	17217116	56	18237											
TREH	11181	broad.mit.edu	37	chr11	118530175	118530175	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatcccatactggtaagTcaggatccggttgtcctaga	9	10	12	10	2	1	1	1	0	0	1	4	3	4	3	3	4	1	2	3	4	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr11:118530175T>C	uc001pty.1	-	11	1381	c.1336A>G	c.(1336-1338)Act>Gct	p.T446A	TREH_uc009zaj.1_Missense_Mutation_p.T415A|TREH_uc001ptz.1_Missense_Mutation_p.T323A	NM_007180	NP_009111	O43280	TREA_HUMAN	Homo sapiens trehalase (brush-border membrane glycoprotein) (TREH), mRNA.	446					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		TACTGGTAAGTCAGGATCCGG	0.617											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	118530175	T	C	118530175	3	2	260	1	0	0	0	0	1	0	0	0	16570	1667	58	3	430	3	TREH	11	118530175	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	740775	118530175	16476341	57	18238											
CCND2	894	broad.mit.edu	37	chr12	4398029	4398029	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaagtttgccatgtaccCaccgtcgatgatcgcaactg	9	12	8	12	3	0	1	0	1	0	0	2	2	0	1	3	0	3	3	3	0	3	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:4398029C>G	uc001qmo.3	+	3	898	c.593C>G	c.(592-594)cCa>cGa	p.P198R		NM_001759	NP_001750	P30279	CCND2_HUMAN	Homo sapiens cyclin D2 (CCND2), mRNA.	198					cell division|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation	cyclin-dependent protein kinase holoenzyme complex|cytoplasm|membrane|nucleus	protein kinase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17			all cancers(3;4.15e-10)|GBM - Glioblastoma multiforme(3;6.34e-05)|Colorectal(7;0.00245)|OV - Ovarian serous cystadenocarcinoma(31;0.00301)|COAD - Colon adenocarcinoma(12;0.0264)|STAD - Stomach adenocarcinoma(119;0.206)			GCCATGTACCCACCGTCGATG	0.547			T	IGL@	"NHL,CLL"								G	4398029	C	G	4398029	3	3	260	1	0	0	0	0	1	0	0	0	2947	594	21	4	607	4	CCND2	12	4398029	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		4398029	129453866	58	18239											
ACSM4	341392	broad.mit.edu	37	chr12	7470689	7470689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgggctgggtcaaggccGccattggcagtgtgttttct	6	11	14	10	2	2	0	1	0	1	0	2	0	2	0	2	4	0	3	2	4	1	3	rs79217312		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:7470689G>A	uc001qsx.1	+	4	832	c.832G>A	c.(832-834)Gcc>Acc	p.A278T		NM_001080454	NP_001073923	P0C7M7	ACSM4_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 4 (ACSM4), mRNA.	278					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.A278T(3)		endometrium(6)|kidney(1)|lung(14)	21						GGTCAAGGCCGCCATTGGCAG	0.458													A	7470689	G	A	7470689	3	1	260	1	0	0	0	0	1	0	0	0	186	1087	38	1	850	1	ACSM4	12	7470689	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	3072660	7470689	126381206	59	18240											
MRPS35	60488	broad.mit.edu	37	chr12	27908375	27908375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaagagactattaaatGtgacatgaattatggagtag	15	11	11	4	1	0	4	0	3	0	1	0	6	0	5	1	1	0	1	1	1	7	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:27908375G>A	uc001rih.3	+	7	1035	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	MRPS35_uc001rii.3_3'UTR	NM_021821	NP_068593	P82673	RT35_HUMAN	Homo sapiens mitochondrial ribosomal protein S35 (MRPS35), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	322					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				breast(1)|endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	6	Lung SC(9;0.0873)					ACTATTAAATGTGACATGAAT	0.254													A	27908375	G	A	27908375	3	1	260	1	0	0	0	0	1	0	0	0	9920	1377	48	2	994	2	MRPS35	12	27908375	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	20437686	27908375	105943520	60	18241											
GLI1	2735	broad.mit.edu	37	chr12	57864118	57864118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccactgtgtcccgccGcgtgggccccccagtctctc	4	8	11	18	3	1	0	0	0	1	0	4	0	2	0	6	2	1	1	6	2	1	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:57864118G>A	uc001snx.3	+	11	1689	c.1595G>A	c.(1594-1596)cGc>cAc	p.R532H	GLI1_uc021qzi.1_Missense_Mutation_p.R491H|GLI1_uc009zpq.3_Missense_Mutation_p.R404H	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	532					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			GTGTCCCGCCGCGTGGGCCCC	0.602													A	57864118	G	A	57864118	3	1	260	1	0	0	0	0	1	0	0	0	6493	1087	38	1	1637	1	GLI1	12	57864118	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	29955743	57864118	75987777	61	18242											
SLC6A15	55117	broad.mit.edu	37	chr12	85270346	85270346	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctctgatgaggaagcaaAtaagtaccacatatggaaac	17	8	9	7	0	1	2	0	2	1	0	1	4	1	4	1	2	4	3	1	2	6	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr12:85270346A>T	uc001szv.3	-	5	1290	c.797T>A	c.(796-798)aTt>aAt	p.I266N	SLC6A15_uc010sul.2_Missense_Mutation_p.I159N	NM_182767	NP_001139807	Q9H2J7	S6A15_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 15 (SLC6A15), transcript variant 1, mRNA.	266					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.I266T(2)		kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GAGGAAGCAAATAAGTACCAC	0.303													T	85270346	A	T	85270346	3	4	260	1	0	0	0	0	1	0	0	0	14772	101	4	5	1423	5	SLC6A15	12	85270346	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	27406228	85270346	48581549	62	18243											
ATP12A	479	broad.mit.edu	37	chr13	25263441	25263441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggtggtcattttaacGgggatctttgcttattacca	7	16	11	7	1	3	0	1	0	2	0	3	1	3	1	1	5	3	1	1	5	3	5			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr13:25263441G>A	uc010aaa.3	+	4	807	c.474G>A	c.(472-474)acG>acA	p.T158T	ATP12A_uc001upp.3_Silent_p.T158T	NM_001185085	NP_001172014	P54707	AT12A_HUMAN	Homo sapiens ATPase, H+/K+ transporting, nongastric, alpha polypeptide (ATP12A), transcript variant 1, mRNA.	158					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding	p.T158M(1)		breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TCATTTTAACGGGGATCTTTG	0.537													A	25263441	G	A	25263441	2	1	260	1	0	0	0	0	0	0	0	1	1127	1103	39	1		1	ATP12A	13	25263441	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		25263441	89906437	63	18244											
TTC5	91875	broad.mit.edu	37	chr14	20767565	20767565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtcagtccgcagctgacGaagcaccattgacaggtttt	10	10	11	10	2	1	2	1	2	0	0	2	3	2	2	2	1	2	4	2	1	1	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:20767565G>A	uc001vwt.3	-	3	496	c.439C>T	c.(439-441)Cgt>Tgt	p.R147C	TTC5_uc001vwu.3_Missense_Mutation_p.R4C	NM_138376	NP_612385	Q8N0Z6	TTC5_HUMAN	Homo sapiens tetratricopeptide repeat domain 5 (TTC5), mRNA.	147					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGCAGCTGACGAAGCACCATT	0.493													A	20767565	G	A	20767565	3	1	260	1	0	0	0	0	1	0	0	0	16813	1058	37	1	911	1	TTC5	14	20767565	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		20767565	86581975	64	18245											
ISM2	145501	broad.mit.edu	37	chr14	77948978	77948978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaggtctatcgacacctcGgcctgggggtcctccaccac	8	7	10	16	2	1	0	0	0	1	0	5	1	3	0	5	4	1	0	5	4	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr14:77948978G>A	uc001xtz.3	-	3	734	c.660C>T	c.(658-660)gcC>gcT	p.A220A	ISM2_uc001xua.3_Intron|ISM2_uc001xty.3_Silent_p.A132A	NM_199296	NP_954993	Q6H9L7	ISM2_HUMAN	Homo sapiens isthmin 2 homolog (zebrafish) (ISM2), transcript variant 1, mRNA.	220						extracellular region		p.A220A(2)		endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						TCGACACCTCGGCCTGGGGGT	0.622													A	77948978	G	A	77948978	2	1	260	1	0	0	0	0	0	0	0	1	7919	1103	39	1		1	ISM2	14	77948978	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	57181413	77948978	29400562	65	18246											
UNC13C	440279	broad.mit.edu	37	chr15	54542603	54542603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtggagtgaaatgccacGaaaagtgtcaggacctgcta	13	8	13	7	1	1	1	1	1	0	0	1	4	1	3	2	2	2	1	2	2	4	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:54542603G>A	uc021smr.1	+	5	3403	c.3403G>A	c.(3403-3405)Gaa>Aaa	p.E1135K	UNC13C_uc021sms.1_Missense_Mutation_p.E1137K	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1137					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAATGCCACGAAAAGTGTCA	0.507													A	54542603	G	A	54542603	3	1	260	1	0	0	0	0	1	0	0	0	17088	1059	37	1	3431	1	UNC13C	15	54542603	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		54542603	47988789	66	18247											
IGDCC3	9543	broad.mit.edu	37	chr15	65667680	65667680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagcactataggctgcccgGggacggcaacatcatcactt	10	7	10	14	2	2	0	2	0	0	0	2	1	2	1	2	4	3	3	2	4	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr15:65667680G>A	uc002aos.2	-	1	416	c.164C>T	c.(163-165)cCc>cTc	p.P55L		NM_004884	NP_004875	Q8IVU1	IGDC3_HUMAN	Homo sapiens immunoglobulin superfamily, DCC subclass, member 3 (IGDCC3), mRNA.	55	Ig-like C2-type 1.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGGCTGCCCGGGGACGGCAAC	0.582													A	65667680	G	A	65667680	3	1	260	1	0	0	0	0	1	0	0	0	7626	1232	43	2	2332	2	IGDCC3	15	65667680	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	11125077	65667680	36863712	67	18248											
GRIN2A	2903	broad.mit.edu	37	chr16	9857171	9857171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgactgtccctggaacagtaCgatgccgttgacctcaagga	10	8	11	12	3	1	1	1	1	0	0	2	5	2	3	3	2	3	2	3	2	3	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:9857171C>T	uc010uym.2	-	13	4540	c.4230G>A	c.(4228-4230)tcG>tcA	p.S1410S	GRIN2A_uc002czo.4_Silent_p.S1410S|GRIN2A_uc010uyn.2_3'UTR|GRIN2A_uc002czr.4_3'UTR	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1410					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGGAACAGTACGATGCCGTTG	0.502													T	9857171	C	T	9857171	2	4	260	1	0	0	0	0	0	0	0	1	6834	523	19	1		1	GRIN2A	16	9857171	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08		9857171	80497582	68	18249											
HYDIN	54768	broad.mit.edu	37	chr16	70917889	70917889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactgcagggtctcggcCggagatatcgatggctataa	9	9	15	8	3	1	1	0	0	1	1	3	4	1	2	1	5	1	2	1	5	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr16:70917889C>T	uc002ezr.3	-	58	10061	c.9910G>A	c.(9910-9912)Ggc>Agc	p.G3304S		NM_032821	NP_116210	Q4G0P3	HYDIN_HUMAN	Homo sapiens HYDIN, axonemal central pair apparatus protein (HYDIN), transcript variant 1, mRNA.	3305										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGGTCTCGGCCGGAGATATCG	0.532													T	70917889	C	T	70917889	3	4	260	1	0	0	0	0	1	0	0	0	7525	652	23	1	5564	1	HYDIN	16	70917889	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	61060718	70917889	19436864	69	18250											
EIF4A1	1973	broad.mit.edu	37	chr17	7480924	7480924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actatgtgacttgtatgaaaCcctgaccatcacccaggcag	12	9	8	12	0	1	3	1	3	0	0	1	3	1	3	3	1	1	2	3	1	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:7480924C>A	uc002gho.2	+	18	3369	c.806C>A	c.(805-807)aCc>aAc	p.T269N	EIF4A1_uc002ghr.1_Missense_Mutation_p.T269N|SNORA67_uc010cml.1_5'Flank|EIF4A1_uc021tpc.1_5'Flank|CD68_uc002ghu.3_5'Flank|CD68_uc002ghv.3_5'Flank	NM_001416	NP_001407	P60842	IF4A1_HUMAN	Homo sapiens eukaryotic translation initiation factor 4A1 (EIF4A1), transcript variant 1, mRNA.	269	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TTGTATGAAACCCTGACCATC	0.537													A	7480924	C	A	7480924	3	1	260	1	0	0	0	0	1	0	0	0	5065	507	18	4	836	4	EIF4A1	17	7480924	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		7480924	73714286	70	18251											
PIK3R6	146850	broad.mit.edu	37	chr17	8741187	8741187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaggtcctggctttccGcctggaaaacaggagatcac	9	7	13	12	2	1	1	1	0	0	1	3	4	3	3	4	5	1	1	4	5	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:8741187G>A	uc002glq.1	-	5	430	c.190_splice	c.e5-1	p.A64_splice	PIK3R6_uc002glr.1_Splice_Site|PIK3R6_uc002gls.1_Splice_Site	NM_001010855	NP_001010855	Q5UE93	PI3R6_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 6 (PIK3R6), mRNA.	64					platelet activation	cytosol											CTGGCTTTCCGCCTGGAAAAC	0.587													A	8741187	G	A	8741187	3	1	260	1	0	0	0	0	1	0	0	0	12000	1101	38	1	2136	1	PIK3R6	17	8741187	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	1260263	8741187	72454023	71	18252											
MYH8	4626	broad.mit.edu	37	chr17	10316043	10316043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagataggctgccttgtcagCgactgcagagacacagttca	11	8	12	10	1	2	2	2	0	0	2	2	5	2	2	1	1	3	3	1	1	1	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:10316043C>T	uc002gmm.2	-	12	1245	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	384	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GCCTTGTCAGCGACTGCAGAG	0.423									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10316043	C	T	10316043	3	4	260	1	0	0	0	0	1	0	0	0	10117	768	27	1	4775	1	MYH8	17	10316043	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	1574856	10316043	70879167	72	18253											
CPD	1362	broad.mit.edu	37	chr17	28772878	28772881	+	Frame_Shift_Del	DEL	TTAA	TTAA	-																															ctactaaagagtttgaaactTtaattaaagacctttcagcg																										TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:28772878_28772881delTTAA	uc002hfb.2	+	11	2770_2773	c.2713_2716delTTAA	c.(2713-2718)ttaattfs	p.L905fs	CPD_uc010wbo.2_Frame_Shift_Del_p.L658fs|CPD_uc010wbp.2_Non-coding_Transcript	NM_001304	NP_001295	O75976	CBPD_HUMAN	Homo sapiens carboxypeptidase D (CPD), transcript variant 1, mRNA.	905	Carboxypeptidase-like 3.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GTTTGAAACTTTAATTAAAGACCT	0.417													-	28772881	TTAA	-	28772878	7	5	260	1	0	1	0	1	0	0	0	0	3829	1838	64	0	2759	0	CPD	17	28772878	Frame_Shift_Del	DEL	TTAA	TCGA-76-4928-01B-01D-1486-08	18456835	28772878	52422332	73	18254											
ORMDL3	94103	broad.mit.edu	37	chr17	38080398	38080398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggagagccagatgccaCggctgttcatcacccgcgtg	8	7	13	13	4	2	2	2	0	0	2	2	3	2	2	3	2	2	3	3	2	1	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:38080398C>T	uc002htj.2	-	1	229	c.59G>A	c.(58-60)cGt>cAt	p.R20H	ORMDL3_uc002hti.1_Non-coding_Transcript|ORMDL3_uc002htk.2_Missense_Mutation_p.R20H	NM_139280	NP_644809	Q8N138	ORML3_HUMAN	Homo sapiens ORM1-like 3 (S. cerevisiae) (ORMDL3), mRNA.	20					ceramide metabolic process	integral to membrane|SPOTS complex	protein binding			endometrium(3)|kidney(1)|lung(1)	5	Colorectal(19;0.000442)		Lung(15;0.0234)			CCAGATGCCACGGCTGTTCAT	0.602													T	38080398	C	T	38080398	3	4	260	1	0	0	0	0	1	0	0	0	11347	536	19	1	414	1	ORMDL3	17	38080398	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	9307520	38080398	43114812	74	18255											
CNTNAP1	8506	broad.mit.edu	37	chr17	40837035	40837035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtaacgtgaacgagtcGgcggtggtgcgccatgacct	7	10	15	9	5	0	2	0	2	0	0	1	3	0	2	2	4	3	1	2	4	2	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:40837035G>A	uc002iay.3	+	3	606	c.390G>A	c.(388-390)tcG>tcA	p.S130S	CNTNAP1_uc010wgs.2_Non-coding_Transcript	NM_003632	NP_003623	P78357	CNTP1_HUMAN	Homo sapiens contactin associated protein 1 (CNTNAP1), mRNA.	130	F5/8 type C.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TGAACGAGTCGGCGGTGGTGC	0.562													A	40837035	G	A	40837035	2	1	260	1	0	0	0	0	0	0	0	1	3677	1103	39	1		1	CNTNAP1	17	40837035	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08	2756637	40837035	40358175	75	18256											
WIPI1	55062	broad.mit.edu	37	chr17	66449078	66449078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtggacttgatccagctgctCcacagaactcagagaaaaca	14	7	9	11	0	1	3	1	1	0	2	3	5	3	4	2	1	4	2	2	1	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:66449078C>T	uc010dey.3	-	1	227	c.136G>A	c.(136-138)Gag>Aag	p.E46K	WIPI1_uc010wqo.2_Intron	NM_017983	NP_060453	Q5MNZ9	WIPI1_HUMAN	Homo sapiens WD repeat domain, phosphoinositide interacting 1 (WIPI1), mRNA.	46					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TCCAGCTGCTCCACAGAACTC	0.488													T	66449078	C	T	66449078	3	4	260	1	0	0	0	0	1	0	0	0	17472	864	30	2	1252	2	WIPI1	17	66449078	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	25612043	66449078	14746132	76	18257											
GPR142	350383	broad.mit.edu	37	chr17	72368095	72368095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgcctcagtctggatcGccatcctgctcacggttgac	7	9	9	16	3	3	1	2	1	1	0	5	2	4	2	4	2	1	2	4	2	0	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr17:72368095G>A	uc021ucp.1	+	3	745	c.736G>A	c.(736-738)Gcc>Acc	p.A246T	GPR142_uc010wqy.2_Missense_Mutation_p.A249T	NM_181790	NP_861455	Q7Z601	GP142_HUMAN	Homo sapiens G protein-coupled receptor 142 (GPR142), mRNA.	249						cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						AGTCTGGATCGCCATCCTGCT	0.692													A	72368095	G	A	72368095	3	1	260	1	0	0	0	0	1	0	0	0	6704	1087	38	1	759	1	GPR142	17	72368095	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	5919017	72368095	8827115	77	18258											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260035	44260035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgcccgtgtgcacGcggaggatgcctcggctgtg	4	8	17	12	4	0	0	0	0	0	0	1	2	0	2	2	4	4	3	2	4	0	0			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:44260035G>A	uc010xcy.1	-	7	1777	c.1209C>T	c.(1207-1209)cgC>cgT	p.R403R	ST8SIA5_uc002lci.1_Silent_p.R214R|ST8SIA5_uc002lcj.1_Silent_p.R367R|ST8SIA5_uc010xcz.1_Silent_p.R336R	NM_013305	NP_037437	O15466	SIA8E_HUMAN	Homo sapiens ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5 (ST8SIA5), mRNA.	367					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCGTGTGCACGCGGAGGATGC	0.652													A	44260035	G	A	44260035	2	1	260	1	0	0	0	0	0	0	0	1	15331	1074	38	1		1	ST8SIA5	18	44260035	Silent	SNP	G	TCGA-76-4928-01B-01D-1486-08		44260035	33817213	78	18259											
CDH7	1005	broad.mit.edu	37	chr18	63430143	63430143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcttttcctgtgtttttCtgggatgagtcaagcagaac	8	15	10	8	0	3	2	1	1	2	1	4	3	4	3	1	1	3	3	1	1	2	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr18:63430143C>T	uc002lkb.3	+	1	491	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CDH7_uc002ljz.3_Missense_Mutation_p.S22F|CDH7_uc002lka.3_Missense_Mutation_p.S22F	NM_004361	NP_387450	Q9ULB5	CADH7_HUMAN	Homo sapiens cadherin 7, type 2 (CDH7), transcript variant b, mRNA.	22					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTGTGTTTTTCTGGGATGAGT	0.433													T	63430143	C	T	63430143	3	4	260	1	0	0	0	0	1	0	0	0	3145	913	32	2	67	2	CDH7	18	63430143	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	19170108	63430143	14647105	79	18260											
KLK15	55554	broad.mit.edu	37	chr19	51330305	51330305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaacatgatgtcgttgcGgtggctgcgcgcttcgtagc	6	10	14	11	5	0	1	0	1	0	0	2	1	0	1	0	2	5	5	0	2	2	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:51330305G>A	uc002ptl.3	-	2	341	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	KLK15_uc002ptm.3_Missense_Mutation_p.R104C|KLK15_uc002ptn.3_Missense_Mutation_p.R104C|KLK15_uc002pto.3_Missense_Mutation_p.R103C|KLK15_uc010ych.2_Non-coding_Transcript|KLK15_uc010yci.2_Missense_Mutation_p.R103C|KLK15_uc010eod.3_Non-coding_Transcript	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN	Homo sapiens kallikrein-related peptidase 15 (KLK15), transcript variant 4, mRNA.	104	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ATGTCGTTGCGGTGGCTGCGC	0.697													A	51330305	G	A	51330305	3	1	260	1	0	0	0	0	1	0	0	0	8461	1116	39	1	472	1	KLK15	19	51330305	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		51330305	7798678	80	18261											
NLRP5	126206	broad.mit.edu	37	chr19	56539657	56539657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccaggagacaccctggaCgccttccactgtcttttcga	8	9	8	16	2	1	1	0	0	1	1	3	4	2	2	5	2	0	0	5	2	0	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr19:56539657C>T	uc002qmj.3	+	6	2058	c.2058C>T	c.(2056-2058)gaC>gaT	p.D686D	NLRP5_uc002qmi.3_Silent_p.D667D	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	686						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		ACACCCTGGACGCCTTCCACT	0.542													T	56539657	C	T	56539657	2	4	260	1	0	0	0	0	0	0	0	1	10556	535	19	1		1	NLRP5	19	56539657	Silent	SNP	C	TCGA-76-4928-01B-01D-1486-08	5209352	56539657	2589326	81	18262											
TGM3	7053	broad.mit.edu	37	chr20	2312692	2312692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaaaaggctttggggaaaCttaaacccaacacgccattt	14	9	7	11	1	0	0	0	0	0	0	1	1	1	1	3	3	3	1	3	3	6	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:2312692C>T	uc002wfx.4	+	9	1475	c.1378C>T	c.(1378-1380)Ctt>Ttt	p.L460F		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	460					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TTTGGGGAAACTTAAACCCAA	0.522													T	2312692	C	T	2312692	3	4	260	1	0	0	0	0	1	0	0	0	15931	565	20	2	1416	2	TGM3	20	2312692	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		2312692	60712828	82	18263											
RPRD1B	58490	broad.mit.edu	37	chr20	36687859	36687859	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaggggatgctactgtcCgacagaaaattgcttctctg	10	11	10	10	1	2	1	1	0	1	1	4	3	3	2	1	2	3	2	1	2	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36687859C>T	uc002xho.4	+	4	994	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_021215	NP_067038	Q9NQG5	RPR1B_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 1B (RPRD1B), mRNA.	198										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TGCTACTGTCCGACAGAAAAT	0.433													T	36687859	C	T	36687859	4	4	260	1	0	0	0	0	0	1	0	0	13707	644	23	1	610	1	RPRD1B	20	36687859	Nonsense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	34375167	36687859	26337661	83	18264											
LBP	3929	broad.mit.edu	37	chr20	36995435	36995435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgcctgactctaatatccGactgaccaccaagtccttcc	10	9	5	17	2	1	2	0	2	1	0	4	3	4	2	7	0	0	0	7	0	3	3			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:36995435G>A	uc002xic.1	+	8	979	c.944G>A	c.(943-945)cGa>cAa	p.R315Q		NM_004139	NP_004130	P18428	LBP_HUMAN	Homo sapiens lipopolysaccharide binding protein (LBP), mRNA.	315					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)				TCTAATATCCGACTGACCACC	0.537													A	36995435	G	A	36995435	3	1	260	1	0	0	0	0	1	0	0	0	8710	1058	37	1	978	1	LBP	20	36995435	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	307576	36995435	26030085	84	18265											
CHD6	84181	broad.mit.edu	37	chr20	40065924	40065924	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactcaccgtttgtttcTggaggccatctactttgtcc	5	17	8	11	1	3	1	1	1	2	0	4	2	4	2	3	2	1	2	3	2	1	5			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:40065924T>G	uc002xka.1	-	26	4236	c.4058A>C	c.(4057-4059)cAg>cCg	p.Q1353P	CHD6_uc002xkb.1_Missense_Mutation_p.Q119P	NM_032221	NP_115597	Q8TD26	CHD6_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 6 (CHD6), mRNA.	1353					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CGTTTGTTTCTGGAGGCCATC	0.398													G	40065924	T	G	40065924	3	3	260	1	0	0	0	0	1	0	0	0	3359	1580	55	5	4133	5	CHD6	20	40065924	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	3070489	40065924	22959596	85	18266											
KCNB1	3745	broad.mit.edu	37	chr20	48098620	48098620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtggtagcgggcctggCagcaggactccaggtagatc	7	8	16	10	1	1	1	0	0	1	1	3	2	2	2	2	6	2	4	2	6	2	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr20:48098620C>T	uc002xur.1	-	0	564	c.398G>A	c.(397-399)tGc>tAc	p.C133Y	KCNB1_uc002xus.1_Missense_Mutation_p.C133Y	NM_004975	NP_004966	Q14721	KCNB1_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 1 (KCNB1), mRNA.	133					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCGGGCCTGGCAGCAGGACTC	0.607													T	48098620	C	T	48098620	3	4	260	1	0	0	0	0	1	0	0	0	8070	710	25	2	2186	2	KCNB1	20	48098620	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	8032696	48098620	14926900	86	18267											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007616	32007616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaactactatggtggtctgCgttatggctatggagtcctg	7	13	13	8	1	1	0	0	0	1	0	2	1	2	1	1	4	3	3	1	4	5	4			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr21:32007616C>T	uc011adg.2	+	0	34	c.34C>T	c.(34-36)Cgt>Tgt	p.R12C		NM_181616	NP_853647	Q3LI61	KR202_HUMAN	Homo sapiens keratin associated protein 20-2 (KRTAP20-2), mRNA.	12						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGGTGGTCTGCGTTATGGCTA	0.517													T	32007616	C	T	32007616	3	4	260	1	0	0	0	0	1	0	0	0	8595	768	27	1	36	1	KRTAP20-2	21	32007616	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08		32007616	16122279	87	18268											
POTEH	23784	broad.mit.edu	37	chr22	16279238	16279238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatttgcttttttcttgaTtaaaaatttcaccacttgct	11	20	3	7	0	2	1	1	1	1	0	2	1	2	1	1	0	2	2	1	0	5	9			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:16279238T>C	uc010gqp.2	-	3	1037	c.985A>G	c.(985-987)Atc>Gtc	p.I329V	POTEH_uc002zlg.1_Non-coding_Transcript|POTEH_uc002zlh.1_Missense_Mutation_p.I48V|POTEH_uc002zlj.1_Missense_Mutation_p.I164V	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	329										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TTTTTCTTGATTAAAAATTTC	0.338													C	16279238	T	C	16279238	3	2	260	1	0	0	0	0	1	0	0	0	12344	1493	52	3	680	3	POTEH	22	16279238	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08		16279238	35025328	88	18269											
PRODH	5625	broad.mit.edu	37	chr22	18912582	18912582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgaggcttcgatgcagcGcaagaatgtctccatgtggc	9	9	12	11	2	1	2	0	1	1	1	3	3	1	2	2	2	2	3	2	2	2	1	rs147270439		TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:18912582G>A	uc002zok.4	-	4	853	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	PRODH_uc002zoj.4_Missense_Mutation_p.R107C|PRODH_uc002zol.4_Missense_Mutation_p.R109C	NM_016335	NP_057419	O43272	PROD_HUMAN	Homo sapiens proline dehydrogenase (oxidase) 1 (PRODH), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	217					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	TCGATGCAGCGCAAGAATGTC	0.632													A	18912582	G	A	18912582	3	1	260	1	0	0	0	0	1	0	0	0	12634	1087	38	1	1197	1	PRODH	22	18912582	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08	2633344	18912582	32391984	89	18270											
MAPK1	5594	broad.mit.edu	37	chr22	22142632	22142632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatagttcctagcttttaaaTttattatacaattcaggtct	13	18	4	6	0	2	0	1	0	1	0	3	0	3	0	1	1	2	2	1	1	9	10			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:22142632T>C	uc002zvn.3	-	5	1010	c.770A>G	c.(769-771)aAt>aGt	p.N257S	MAPK1_uc002zvo.3_Missense_Mutation_p.N257S|MAPK1_uc010gtk.1_Intron	NM_002745	NP_620407	P28482	MK01_HUMAN	Homo sapiens mitogen-activated protein kinase 1 (MAPK1), transcript variant 1, mRNA.	257	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AGCTTTTAAATTTATTATACA	0.353													C	22142632	T	C	22142632	3	2	260	1	0	0	0	0	1	0	0	0	9346	1493	52	3	324	3	MAPK1	22	22142632	Missense_Mutation	SNP	T	TCGA-76-4928-01B-01D-1486-08	3230050	22142632	29161934	90	18271											
TMPRSS6	164656	broad.mit.edu	37	chr22	37470715	37470715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacaggcagggacacagagtCcattcacagaacagaggaac	16	3	11	11	0	1	3	1	0	0	3	2	5	2	5	1	3	2	1	1	3	2	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chr22:37470715C>T	uc003aqt.1	-	11	1438	c.1376G>A	c.(1375-1377)gGa>gAa	p.G459E	TMPRSS6_uc003aqs.1_Missense_Mutation_p.G468E	NM_153609	NP_705837	Q8IU80	TMPS6_HUMAN	Homo sapiens transmembrane protease, serine 6 (TMPRSS6), mRNA.	468	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GACACAGAGTCCATTCACAGA	0.632													T	37470715	C	T	37470715	3	4	260	1	0	0	0	0	1	0	0	0	16351	855	30	2	1060	2	TMPRSS6	22	37470715	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	15328083	37470715	13833851	91	18272											
ARSF	416	broad.mit.edu	37	chrX	3021841	3021841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaaggtggaatccgcGtcccaggaattgtccgatgg	8	8	16	9	3	0	0	0	0	0	0	3	4	3	3	3	5	0	1	3	5	3	1			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:3021841G>A	uc022brz.1	+	8	1277	c.1141G>A	c.(1141-1143)Gtc>Atc	p.V381I	ARSF_uc004cre.2_Missense_Mutation_p.V381I|ARSF_uc004crf.2_Missense_Mutation_p.V381I	NM_001201538	NP_001188467	P54793	ARSF_HUMAN	Homo sapiens arylsulfatase F (ARSF), transcript variant 2, mRNA.	381						extracellular region	arylsulfatase activity|metal ion binding	p.V381I(2)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGGAATCCGCGTCCCAGGAAT	0.438													A	3021841	G	A	3021841	3	1	260	1	0	0	0	0	1	0	0	0	996	1145	40	1	1171	1	ARSF	23	3021841	Missense_Mutation	SNP	G	TCGA-76-4928-01B-01D-1486-08		3021841	152248719	92	18273											
BRWD3	254065	broad.mit.edu	37	chrX	79999713	79999713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtagcaagaaggcgtccatCatctgtagcccaaattttta	12	12	8	9	1	2	1	1	0	1	1	3	1	3	1	2	1	2	3	2	1	6	5			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:79999713C>T	uc004edt.3	-	7	894	c.631G>A	c.(631-633)Gat>Aat	p.D211N	BRWD3_uc004edp.3_Missense_Mutation_p.D40N|BRWD3_uc004edq.3_5'UTR|BRWD3_uc010nmj.2_5'UTR|BRWD3_uc004edr.3_5'UTR|BRWD3_uc004eds.3_5'UTR|BRWD3_uc004edo.3_5'UTR|BRWD3_uc004edu.3_5'UTR|BRWD3_uc004edv.3_5'UTR|BRWD3_uc004edw.3_5'UTR|BRWD3_uc004edx.3_5'UTR|BRWD3_uc004edy.3_5'UTR|BRWD3_uc004edz.3_5'UTR|BRWD3_uc004eea.3_5'UTR|BRWD3_uc004eeb.3_Intron	NM_153252	NP_694984	Q6RI45	BRWD3_HUMAN	Homo sapiens bromodomain and WD repeat domain containing 3 (BRWD3), mRNA.	211										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						AGGCGTCCATCATCTGTAGCC	0.403													T	79999713	C	T	79999713	3	4	260	1	0	0	0	0	1	0	0	0	1535	826	29	2	4913	2	BRWD3	23	79999713	Missense_Mutation	SNP	C	TCGA-76-4928-01B-01D-1486-08	76977872	79999713	75270847	93	18274											
FATE1	89885	broad.mit.edu	37	chrX	150885868	150885868	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgccacccgacccaagaaAatggtactgtatggggtcct	11	8	10	12	1	0	1	0	0	0	1	1	2	1	1	4	3	2	2	4	3	5	2			TCGA-76-4928-01B-01D-1486-08	TCGA-76-4928-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e30f277-875e-4ab8-bc7c-0a5121cde6d1	245a59f0-a6c4-4e1a-bd0a-d104308b123c	g.chrX:150885868A>T	uc004fex.3	+	1	315	c.231A>T	c.(229-231)aaA>aaT	p.K77N		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	77						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GACCCAAGAAAATGGTACTGT	0.562													T	150885868	A	T	150885868	3	4	260	1	0	0	0	0	1	0	0	0	5742	11	1	5	237	5	FATE1	23	150885868	Missense_Mutation	SNP	A	TCGA-76-4928-01B-01D-1486-08	70886155	150885868	4384692	94	18275											
TNFRSF4	7293	broad.mit.edu	37	chr1	1147004	1147004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggtccggaaactgcctccCcctggggaggaaaaaaggag	11	4	16	10	1	0	0	0	0	0	0	2	4	2	4	4	7	2	0	4	7	4	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:1147004C>T	uc001adf.3	-	4	1453	c.855G>A	c.(853-855)ggG>ggA	p.G285G	TNFRSF4_uc001ade.3_Splice_Site_p.G255_splice			P43489	TNR4_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 4 (TNFRSF4), mRNA.	255					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AACTGCCTCCCCCTGGGGAGG	0.677													T	1147004	C	T	1147004	2	4	261	1	0	0	0	0	0	0	0	1	16397	637	22	2		2	TNFRSF4	1	1147004	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		1147004	248103617	1	18276											
PABPC4	8761	broad.mit.edu	37	chr1	40030160	40030160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagttggagccagatggCgaagagttggacgaggccca	11	6	15	9	2	0	2	0	0	0	2	0	6	0	4	3	4	2	2	3	4	2	3	rs139185037		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:40030160C>T	uc001cdl.2	-	9	2286	c.1388G>A	c.(1387-1389)cGc>cAc	p.R463H	PABPC4_uc010oiv.1_Missense_Mutation_p.R463H|PABPC4_uc001cdm.2_Missense_Mutation_p.R463H	NM_001135653	NP_001129125	Q13310	PABP4_HUMAN	Homo sapiens poly(A) binding protein, cytoplasmic 4 (inducible form) (PABPC4), transcript variant 1, mRNA.	463					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AGCCAGATGGCGAAGAGTTGG	0.542													T	40030160	C	T	40030160	3	4	261	1	0	0	0	0	1	0	0	0	11442	768	27	1	618	1	PABPC4	1	40030160	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	38883156	40030160	209220461	2	18277											
CASQ1	844	broad.mit.edu	37	chr1	160162639	160162639	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgttggcttcgggctggtAgactctgagaaggatgcagc	7	10	17	7	1	1	2	0	1	1	2	2	4	1	3	0	5	2	5	0	5	2	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:160162639A>T	uc010pja.2	+	1	584	c.327A>T	c.(325-327)gtA>gtT	p.V109V		NM_001231	NP_001222	P31415	CASQ1_HUMAN	Homo sapiens calsequestrin 1 (fast-twitch, skeletal muscle) (CASQ1), nuclear gene encoding mitochondrial protein, mRNA.	109						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCGGGCTGGTAGACTCTGAGA	0.522											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	160162639	A	T	160162639	2	4	261	1	0	0	0	0	0	0	0	1	2706	407	15	5		5	CASQ1	1	160162639	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08	120132479	160162639	89087982	3	18278											
TNFSF18	8995	broad.mit.edu	37	chr1	173010533	173010533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaattggggatttgctaGtaaaatgataccccagtatg	13	12	11	5	0	0	2	0	2	0	0	0	4	0	3	2	2	2	3	2	2	6	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:173010533G>A	uc001giu.2	-	2	575	c.574C>T	c.(574-576)Cta>Tta	p.L192L		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	192					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						GGATTTGCTAGTAAAATGATA	0.418													A	173010533	G	A	173010533	2	1	261	1	0	0	0	0	0	0	0	1	16409	1020	36	2		2	TNFSF18	1	173010533	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	12847894	173010533	76240088	4	18279											
LHX9	56956	broad.mit.edu	37	chr1	197887088	197887088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagatccaagactgaggcCcgtctggccaaaggcgccca	10	4	12	15	3	1	3	0	1	1	2	2	3	2	3	4	3	0	1	4	3	2	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr1:197887088C>T	uc001guk.1	+	0	572	c.135C>T	c.(133-135)gcC>gcT	p.A45A	LHX9_uc009wzc.1_Non-coding_Transcript|LHX9_uc001gui.1_Silent_p.A36A	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	45					motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						AGACTGAGGCCCGTCTGGCCA	0.662													T	197887088	C	T	197887088	2	4	261	1	0	0	0	0	0	0	0	1	8837	610	22	2		2	LHX9	1	197887088	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	24876555	197887088	51363533	5	18280											
HADHA	3030	broad.mit.edu	37	chr2	26457099	26457099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctatacctcaagtcctcctcCcaggcaggatccattgatgg	9	10	8	14	0	1	1	1	1	0	0	5	2	5	2	5	3	1	1	5	3	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:26457099C>T	uc002rgy.3	-	4	569	c.439G>A	c.(439-441)Gga>Aga	p.G147R	HADHA_uc010yks.2_Missense_Mutation_p.G60R|HADHA_uc010ykt.1_Missense_Mutation_p.G60R	NM_000182	NP_000173	P40939	ECHA_HUMAN	Homo sapiens hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit (HADHA), nuclear gene encoding mitochondrial protein, mRNA.	147					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGTCCTCCTCCCAGGCAGGAT	0.433													T	26457099	C	T	26457099	3	4	261	1	0	0	0	0	1	0	0	0	6998	632	22	2	1916	2	HADHA	2	26457099	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		26457099	216742274	6	18281											
FAM123C	205147	broad.mit.edu	37	chr2	131520666	131520666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagacagggaccaatccCggctggacacagctgggctc	10	4	14	13	1	0	1	0	0	0	1	2	4	1	4	2	5	1	3	2	5	1	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:131520666C>T	uc021voy.1	+	0	1021	c.1021C>T	c.(1021-1023)Cgg>Tgg	p.R341W	FAM123C_uc002trw.2_Missense_Mutation_p.R341W|FAM123C_uc010fmv.2_Missense_Mutation_p.R341W|FAM123C_uc010fms.1_Missense_Mutation_p.R341W|FAM123C_uc010fmt.1_Missense_Mutation_p.R341W|FAM123C_uc010fmu.1_Missense_Mutation_p.R341W	NM_152698	NP_689911	Q8N944	F123C_HUMAN	Homo sapiens family with sequence similarity 123C (FAM123C), transcript variant 1, mRNA.	341								p.R341W(2)		breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(43)|ovary(2)|pancreas(4)|prostate(3)|skin(8)	73	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.13)		GGACCAATCCCGGCTGGACAC	0.667													T	131520666	C	T	131520666	3	4	261	1	0	0	0	0	1	0	0	0	5469	643	23	1	1023	1	FAM123C	2	131520666	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	105063567	131520666	111678707	7	18282											
PHOSPHO2	493911	broad.mit.edu	37	chr2	170558142	170558142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgagcctatggaatatTctgttgtagtttggtcctca	8	17	9	7	0	3	1	1	1	2	0	4	2	4	2	2	2	1	3	2	2	4	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:170558142T>C	uc021vsh.1	+	3	979	c.661T>C	c.(661-663)Tct>Cct	p.S221P	PHOSPHO2_uc021vsi.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsj.1_Missense_Mutation_p.S221P|PHOSPHO2_uc021vsg.1_Missense_Mutation_p.S221P|PHOSPHO2_uc002ufg.3_Missense_Mutation_p.S221P|KLHL23_uc002ufh.2_Intron|PHOSPHO2_uc021vsk.1_Missense_Mutation_p.S221P	NM_001199288	NP_001186217	Q8TCD6	PHOP2_HUMAN	Homo sapiens phosphatase, orphan 2 (PHOSPHO2), transcript variant 5, mRNA.	221							metal ion binding|pyridoxal phosphatase activity			breast(1)|large_intestine(1)|lung(6)|skin(2)	10						TATGGAATATTCTGTTGTAGT	0.328													C	170558142	T	C	170558142	3	2	261	1	0	0	0	0	1	0	0	0	11934	1783	62	3	663	3	PHOSPHO2	2	170558142	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	39037476	170558142	72641231	8	18283											
MYO1B	4430	broad.mit.edu	37	chr2	192248067	192248067	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgtgacctaatagaaaAtgtgagtacttaggtacagt	14	13	9	5	0	0	3	0	2	0	1	0	3	0	3	1	1	2	2	1	1	7	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:192248067A>T	uc010fsg.2	+	15	1608	c.1353_splice	c.e15+1	p.N451_splice	MYO1B_uc002usq.2_Splice_Site_p.N451_splice|MYO1B_uc002usr.2_Splice_Site_p.N451_splice|MYO1B_uc002ust.1_Splice_Site_p.N89_splice	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	451	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			CTAATAGAAAATGTGAGTACT	0.313													T	192248067	A	T	192248067	3	4	261	1	0	0	0	0	1	0	0	0	10145	115	4	5	1406	5	MYO1B	2	192248067	Missense_Mutation	SNP	A	TCGA-76-4929-01A-01D-1486-08	21689925	192248067	50951306	9	18284											
ALS2	57679	broad.mit.edu	37	chr2	202609022	202609022	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgagatttgatatcaCttagttttgaatagaatcgt	13	16	8	4	1	2	4	1	3	1	2	3	6	2	4	0	0	0	1	0	0	6	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:202609022C>G	uc002uyo.3	-	9	2485	c.2129G>C	c.(2128-2130)aGt>aCt	p.S710T	ALS2_uc002uyp.4_Missense_Mutation_p.S710T|ALS2_uc002uyq.3_Missense_Mutation_p.S710T|ALS2_uc010ftl.3_Non-coding_Transcript	NM_020919	NP_065970	Q96Q42	ALS2_HUMAN	Homo sapiens amyotrophic lateral sclerosis 2 (juvenile) (ALS2), transcript variant 1, mRNA.	710	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TTTGATATCACTTAGTTTTGA	0.398													G	202609022	C	G	202609022	3	3	261	1	0	0	0	0	1	0	0	0	550	565	20	4	2944	4	ALS2	2	202609022	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	10360955	202609022	40590351	10	18285											
SLC11A1	6556	broad.mit.edu	37	chr2	219254613	219254613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcgagagatagaccgggcCcgccgagcagacatcagaga	12	4	13	12	4	2	4	1	0	1	4	3	8	2	4	3	1	1	1	3	1	1	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr2:219254613C>T	uc002vhv.3	+	8	1156	c.816C>T	c.(814-816)gcC>gcT	p.A272A	SLC11A1_uc010fvp.1_Silent_p.A272A|SLC11A1_uc010fvq.1_Silent_p.A205A|SLC11A1_uc010zkc.1_Silent_p.A205A|SLC11A1_uc002vhu.1_Silent_p.A67A|SLC11A1_uc002vhw.3_Silent_p.A154A|SLC11A1_uc010fvr.3_Silent_p.A67A	NM_000578	NP_000569	P49279	NRAM1_HUMAN	Homo sapiens solute carrier family 11 (proton-coupled divalent metal ion transporters), member 1 (SLC11A1), mRNA.	272					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TAGACCGGGCCCGCCGAGCAG	0.537													T	219254613	C	T	219254613	2	4	261	1	0	0	0	0	0	0	0	1	14474	610	22	2		2	SLC11A1	2	219254613	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	16645591	219254613	23944760	11	18286											
RNF123	63891	broad.mit.edu	37	chr3	49737157	49737157	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgcggggccagcccacCgtcctcctcacactggccca	5	6	11	19	3	1	0	1	0	0	0	3	0	3	0	6	4	2	1	6	4	0	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:49737157C>T	uc003cxh.3	+	11	1022	c.936C>T	c.(934-936)acC>acT	p.T312T	RNF123_uc010hky.1_5'UTR|RNF123_uc003cxi.3_Non-coding_Transcript	NM_022064	NP_071347	Q5XPI4	RN123_HUMAN	Homo sapiens ring finger protein 123 (RNF123), mRNA.	312						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		GCCAGCCCACCGTCCTCCTCA	0.647													T	49737157	C	T	49737157	2	4	261	1	0	0	0	0	0	0	0	1	13524	639	23	1		1	RNF123	3	49737157	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		49737157	148285273	12	18287											
ALG3	10195	broad.mit.edu	37	chr3	183962404	183962404	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtacctgaaggccagcacaGattcccagcttggggagggc	9	6	15	11	0	0	2	0	1	0	1	1	3	1	3	3	5	3	3	3	5	2	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr3:183962404G>A	uc003fne.2	-	4	742	c.711C>T	c.(709-711)atC>atT	p.I237I	ALG3_uc011brc.1_Silent_p.I202I|ALG3_uc011brd.1_Silent_p.I181I|ALG3_uc011bre.1_Silent_p.I189I	NM_005787	NP_005778	Q92685	ALG3_HUMAN	Homo sapiens asparagine-linked glycosylation 3, alpha-1,3- mannosyltransferase homolog (S. cerevisiae) (ALG3), transcript variant 1, mRNA.	237					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCAGCACAGATTCCCAGCT	0.537													A	183962404	G	A	183962404	2	1	261	1	0	0	0	0	0	0	0	1	520	932	33	2		2	ALG3	3	183962404	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	134225247	183962404	14060026	13	18288											
PDGFRA	5156	broad.mit.edu	37	chr4	55131090	55131090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttttttatagcaacAtcagagctggatctagaaat	12	16	7	6	0	3	2	1	0	2	2	3	3	3	3	0	1	3	3	0	1	5	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:55131090A>G	uc003han.4	+	4	964	c.633A>G	c.(631-633)acA>acG	p.T211T	PDGFRA_uc003haa.3_Intron|PDGFRA_uc003hal.3_3'UTR|PDGFRA_uc010igq.1_Silent_p.T105T|PDGFRA_uc003ham.2_Non-coding_Transcript	NM_006206	NP_006197	P16234	PGFRA_HUMAN	Homo sapiens platelet-derived growth factor receptor, alpha polypeptide (PDGFRA), mRNA.	211	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.A210V(1)|p.A210fs*7(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTATAGCAACATCAGAGCTGG	0.373			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G	55131090	A	G	55131090	2	3	261	1	0	0	0	0	0	0	0	1	11737	204	8	3		3	PDGFRA	4	55131090	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08		55131090	136023186	14	18289											
LPHN3	23284	broad.mit.edu	37	chr4	62363023	62363023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagacagccatgtggccatcGcagctactaattttcatgat	11	12	8	10	1	1	2	1	1	0	1	2	2	1	2	2	1	3	2	2	1	3	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:62363023G>A	uc010ihh.3	+	0	185	c.12G>A	c.(10-12)tcG>tcA	p.S4S	LPHN3_uc003hcq.4_Silent_p.S4S|LPHN3_uc010ihg.1_Silent_p.S4S	NM_015236	NP_056051	Q9HAR2	LPHN3_HUMAN	Homo sapiens latrophilin 3 (LPHN3), mRNA.	4					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TGTGGCCATCGCAGCTACTAA	0.348													A	62363023	G	A	62363023	2	1	261	1	0	0	0	0	0	0	0	1	8987	1074	38	1		1	LPHN3	4	62363023	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	7231933	62363023	128791253	15	18290											
DCK	1633	broad.mit.edu	37	chr4	71888254	71888254	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacctgtattatttttTgaacgatctgtgtatagtga	12	16	9	4	1	1	3	0	2	1	1	1	5	1	3	1	0	2	2	1	0	6	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:71888254T>G	uc003hfx.3	+	2	666	c.378T>G	c.(376-378)ttT>ttG	p.F126L	DCK_uc011cbb.2_Missense_Mutation_p.F54L	NM_000788	NP_000779	P27707	DCK_HUMAN	Homo sapiens deoxycytidine kinase (DCK), mRNA.	126					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	TATTATTTTTTGAACGATCTG	0.358													G	71888254	T	G	71888254	3	3	261	1	0	0	0	0	1	0	0	0	4324	1809	63	5	388	5	DCK	4	71888254	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	9525231	71888254	119266022	16	18291											
ANXA3	306	broad.mit.edu	37	chr4	79507428	79507428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttagggcgcgggaacaaaCgaagatgccttgattgaaat	13	10	12	6	3	0	3	0	2	0	1	0	5	0	4	1	2	3	0	1	2	5	4	rs144437584		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:79507428C>T	uc003hld.3	+	5	637	c.327C>T	c.(325-327)aaC>aaT	p.N109N		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	109					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						CGGGAACAAACGAAGATGCCT	0.343													T	79507428	C	T	79507428	2	4	261	1	0	0	0	0	0	0	0	1	719	535	19	1		1	ANXA3	4	79507428	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	7619174	79507428	111646848	17	18292											
FGG	2266	broad.mit.edu	37	chr4	155529787	155529787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtttttcttgaaatctaCactgccatcaagtctctaat	11	15	4	11	0	4	1	1	1	3	0	5	1	4	1	2	0	2	1	2	0	4	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr4:155529787C>T	uc003ioj.3	-	6	823	c.682G>A	c.(682-684)Gta>Ata	p.V228I	FGG_uc003iog.3_Missense_Mutation_p.V228I	NM_021870	NP_068656	P02679	FIBG_HUMAN	Homo sapiens fibrinogen gamma chain (FGG), transcript variant gamma-B, mRNA.	228	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTGAAATCTACACTGCCATCA	0.343													T	155529787	C	T	155529787	3	4	261	1	0	0	0	0	1	0	0	0	5919	478	17	2	710	2	FGG	4	155529787	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	76022359	155529787	35624489	18	18293											
PLEKHG4B	153478	broad.mit.edu	37	chr5	181778	181778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagtccccgacagcatcGtcaagggcacaggtacggtg	10	5	13	13	4	1	0	1	0	0	0	3	2	2	0	3	3	2	3	3	3	2	1	rs114040866	by1000genomes	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:181778G>A	uc003jak.2	+	16	3534	c.3484G>A	c.(3484-3486)Gtc>Atc	p.V1162I		NM_052909	NP_443141	Q96PX9	PKH4B_HUMAN	Homo sapiens pleckstrin homology domain containing, family G (with RhoGef domain) member 4B (PLEKHG4B), mRNA.	1162					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CGACAGCATCGTCAAGGGCAC	0.637													A	181778	G	A	181778	3	1	261	1	0	0	0	0	1	0	0	0	12149	1145	40	1	3550	1	PLEKHG4B	5	181778	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		181778	180733482	19	18294											
BASP1	10409	broad.mit.edu	37	chr5	17275370	17275370	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagggctacaatgtgaaCgacgagaaagccaaggagaa	19	3	13	6	2	0	4	0	1	0	3	0	7	0	4	1	2	3	1	1	2	8	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:17275370C>T	uc003jfx.3	+	1	224	c.45C>T	c.(43-45)aaC>aaT	p.N15N	BASP1_uc021xws.1_Silent_p.N15N	NM_006317	NP_006308	P80723	BASP1_HUMAN	Homo sapiens brain abundant, membrane attached signal protein 1 (BASP1), mRNA.	15					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						ACAATGTGAACGACGAGAAAG	0.567													T	17275370	C	T	17275370	2	4	261	1	0	0	0	0	0	0	0	1	1322	535	19	1		1	BASP1	5	17275370	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	17093592	17275370	163639890	20	18295											
CDH18	1016	broad.mit.edu	37	chr5	19721516	19721516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctgtaaaccacccgagCgctgtttccataggtagggt	10	10	11	10	2	0	0	0	0	0	0	1	1	1	0	3	2	3	5	3	2	5	4			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:19721516C>T	uc003jgd.3	-	4	1117	c.583G>A	c.(583-585)Gct>Act	p.A195T	CDH18_uc011cnm.2_Missense_Mutation_p.A195T|CDH18_uc003jgc.3_Missense_Mutation_p.A195T|CDH18_uc021xwu.1_Missense_Mutation_p.A195T	NM_004934	NP_004925	Q13634	CAD18_HUMAN	Homo sapiens cadherin 18, type 2 (CDH18), transcript variant 1, mRNA.	195	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.A195T(2)|p.S194R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACCACCCGAGCGCTGTTTCCA	0.463													T	19721516	C	T	19721516	3	4	261	1	0	0	0	0	1	0	0	0	3133	768	27	1	1825	1	CDH18	5	19721516	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	2446146	19721516	161193744	21	18296											
PIK3R1	5295	broad.mit.edu	37	chr5	67575468	67575468	+	Frame_Shift_Del	DEL	G	G	-																															tggaaatgatcgatgtgcacGttttggctgacgctttcaaa																								rs143572224		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:67575468delG	uc003jva.3	+	4	1121	c.541delG	c.(541-543)gttfs	p.V181fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	181	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGATGTGCACGTTTTGGCTGA	0.393			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67575468	G	-	67575468	7	5	261	1	0	1	0	1	0	0	0	0	11995	1145	40	0	555	0	PIK3R1	5	67575468	Frame_Shift_Del	DEL	G	TCGA-76-4929-01A-01D-1486-08	47853952	67575468	113339792	22	18297											
POU5F2	134187	broad.mit.edu	37	chr5	93077142	93077142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccggccagaccatcaccCtgccaggggccgcctgggtg	5	5	14	17	2	1	1	1	0	0	1	1	1	1	1	7	4	2	0	7	4	0	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:93077142C>T	uc003kkl.1	-	0	168	c.128G>A	c.(127-129)aGg>aAg	p.R43K	FAM172A_uc010jbd.3_Intron|FAM172A_uc011cuf.2_Intron|FAM172A_uc011cug.2_Intron|FAM172A_uc011cuh.2_Intron|FAM172A_uc011cui.2_Intron|FAM172A_uc011cuj.2_Intron	NM_153216	NP_694948	Q8N7G0	PO5F2_HUMAN	Homo sapiens POU domain class 5, transcription factor 2 (POU5F2), mRNA.	43						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GACCATCACCCTGCCAGGGGC	0.687													T	93077142	C	T	93077142	3	4	261	1	0	0	0	0	1	0	0	0	12360	681	24	2	862	2	POU5F2	5	93077142	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	25501674	93077142	87838118	23	18298											
FTMT	94033	broad.mit.edu	37	chr5	121187720	121187720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctggcgtctctgcgccCggtgcgctgctgcttcgcgc	0	11	14	16	7	1	0	0	0	1	0	4	0	1	0	1	2	4	4	1	2	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:121187720C>T	uc003kss.3	+	0	71	c.62C>T	c.(61-63)cCg>cTg	p.P21L		NM_177478	NP_803431	Q8N4E7	FTMT_HUMAN	Homo sapiens ferritin mitochondrial (FTMT), nuclear gene encoding mitochondrial protein, mRNA.	21					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.R20C(1)|p.R20S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		TCTCTGCGCCCGGTGCGCTGC	0.736													T	121187720	C	T	121187720	3	4	261	1	0	0	0	0	1	0	0	0	6137	652	23	1	64	1	FTMT	5	121187720	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	28110578	121187720	59727540	24	18299											
SLU7	10569	broad.mit.edu	37	chr5	159842130	159842130	+	Splice_Site	DEL	A	A	-																															atacaaaaaattaagtacttActttccttcttcatcaactt																										TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:159842130delA	uc003lyg.3	-	2	325	c.170_splice	c.e2+1	p.K57_splice	SLU7_uc003lyh.1_Splice_Site_p.K57_splice|SLU7_uc003lyi.1_Splice_Site_p.K57_splice	NM_006425	NP_006416	O95391	SLU7_HUMAN	Homo sapiens SLU7 splicing factor homolog (S. cerevisiae) (SLU7), mRNA.	57					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TTAAGTACTTACTTTCCTTCT	0.358													-	159842130	A	-	159842130	8	5	261	1	0	1	0	1	0	0	1	0	14849	405	14	0	1648	0	SLU7	5	159842130	Splice_Site	DEL	A	TCGA-76-4929-01A-01D-1486-08	38654410	159842130	21073130	25	18300											
GABRB2	2561	broad.mit.edu	37	chr5	160721269	160721269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtcgttccagagcatttCggccaaaactatgcctgggc	9	10	10	12	2	0	1	0	0	0	1	3	1	1	1	3	2	3	2	3	2	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr5:160721269C>T	uc003lys.1	-	10	1576	c.1358G>A	c.(1357-1359)cGa>cAa	p.R453Q	GABRB2_uc011deh.1_Missense_Mutation_p.R254Q|GABRB2_uc003lyr.1_Missense_Mutation_p.R415Q|GABRB2_uc003lyt.1_Missense_Mutation_p.R415Q	NM_021911	NP_068711	P47870	GBRB2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, beta 2 (GABRB2), transcript variant 1, mRNA.	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CAGAGCATTTCGGCCAAAACT	0.532													T	160721269	C	T	160721269	3	4	261	1	0	0	0	0	1	0	0	0	6219	884	31	1	184	1	GABRB2	5	160721269	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	879139	160721269	20193991	26	18301											
FKBPL	63943	broad.mit.edu	37	chr6	32097113	32097113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttcctccctccatggccCtacgcccatagttagctctg	6	12	7	16	1	1	0	0	0	1	0	4	0	4	0	5	1	2	3	5	1	3	4			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:32097113C>T	uc003nzr.3	-	1	715	c.445G>A	c.(445-447)Ggg>Agg	p.G149R	ATF6B_uc003nzn.3_5'Flank|ATF6B_uc003nzo.3_5'Flank|ATF6B_uc011dpg.2_5'Flank|ATF6B_uc011dph.2_5'Flank|FKBPL_uc021yvh.1_Missense_Mutation_p.G149R	NM_022110	NP_071393	Q9UIM3	FKBPL_HUMAN	Homo sapiens FK506 binding protein like (FKBPL), mRNA.	149					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										CTCCATGGCCCTACGCCCATA	0.582													T	32097113	C	T	32097113	3	4	261	1	0	0	0	0	1	0	0	0	5965	681	24	2	608	2	FKBPL	6	32097113	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		32097113	139017954	27	18302											
PKHD1	5314	broad.mit.edu	37	chr6	51890856	51890856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatctggggggctggcaggGtttcacaccagatgctcgcc	6	9	15	11	1	2	1	1	0	1	1	3	1	2	1	2	5	1	5	2	5	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr6:51890856G>T	uc003pah.1	-	31	4028	c.3752C>A	c.(3751-3753)aCc>aAc	p.T1251N	PKHD1_uc003pai.3_Missense_Mutation_p.T1251N	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	1251	IPT/TIG 7.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCTGGCAGGGTTTCACACCA	0.597													T	51890856	G	T	51890856	3	4	261	1	0	0	0	0	1	0	0	0	12048	1261	44	4	8655	4	PKHD1	6	51890856	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	19793743	51890856	119224211	28	18303											
WBSCR17	64409	broad.mit.edu	37	chr7	70597844	70597844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttgaacttgatcgcggtagCcggcttcgtgctcttcctgg	4	13	13	11	4	1	2	0	2	1	0	4	2	2	2	2	3	3	4	2	3	2	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:70597844C>T	uc003tvy.3	+	0	56	c.56C>T	c.(55-57)gCc>gTc	p.A19V		NM_022479	NP_071924	Q6IS24	GLTL3_HUMAN	Homo sapiens Williams-Beuren syndrome chromosome region 17 (WBSCR17), mRNA.	19						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.V18L(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				ATCGCGGTAGCCGGCTTCGTG	0.677													T	70597844	C	T	70597844	3	4	261	1	0	0	0	0	1	0	0	0	17366	739	26	2	58	2	WBSCR17	7	70597844	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		70597844	88540819	29	18304											
CLIP2	7461	broad.mit.edu	37	chr7	73791076	73791076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaacaggaggtcgagaGtttgcgggagaagctcctgg	10	6	18	7	2	0	2	0	0	0	2	2	5	1	3	1	5	3	3	1	5	2	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:73791076G>A	uc003uam.3	+	9	2672	c.2345G>A	c.(2344-2346)aGt>aAt	p.S782N	CLIP2_uc003uan.3_Missense_Mutation_p.S747N|CLIP2_uc003uao.3_Missense_Mutation_p.S176N	NM_003388	NP_003379	Q9UDT6	CLIP2_HUMAN	Homo sapiens CAP-GLY domain containing linker protein 2 (CLIP2), transcript variant 1, mRNA.	782						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGGTCGAGAGTTTGCGGGAG	0.632													A	73791076	G	A	73791076	3	1	261	1	0	0	0	0	1	0	0	0	3564	1029	36	2	2379	2	CLIP2	7	73791076	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	3193232	73791076	85347587	30	18305											
AKAP9	10142	broad.mit.edu	37	chr7	91711915	91711915	+	Frame_Shift_Del	DEL	C	C	-																															tcttagagctgaatcagtggCtaccaaagcagaacttgcca																										TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:91711915delC	uc003ulg.3	+	31	8324	c.8099delC	c.(8098-8100)gctfs	p.A2700fs	AKAP9_uc003ulf.3_Frame_Shift_Del_p.A2692fs|AKAP9_uc003uli.3_Frame_Shift_Del_p.A2323fs|AKAP9_uc003ulj.3_Frame_Shift_Del_p.A470fs|AKAP9_uc003ulk.3_5'Flank	NM_005751	NP_005742	Q99996	AKAP9_HUMAN	Homo sapiens A kinase (PRKA) anchor protein (yotiao) 9 (AKAP9), transcript variant 2, mRNA.	2712	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAATCAGTGGCTACCAAAGCA	0.373			T	BRAF	papillary thyroid								-	91711915	C	-	91711915	7	5	261	1	0	1	0	1	0	0	0	0	459	797	28	0	8225	0	AKAP9	7	91711915	Frame_Shift_Del	DEL	C	TCGA-76-4929-01A-01D-1486-08	17920839	91711915	67426748	31	18306											
JHDM1D	80853	broad.mit.edu	37	chr7	139824534	139824534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaactccaagattcataaCgtgccaaattttcatctgtt	13	14	5	9	1	3	2	2	1	1	1	4	2	4	2	2	0	3	1	2	0	4	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:139824534C>T	uc003vvm.3	-	6	942	c.938G>A	c.(937-939)cGt>cAt	p.R313H		NM_030647	NP_085150	Q6ZMT4	KDM7_HUMAN	Homo sapiens jumonji C domain containing histone demethylase 1 homolog D (S. cerevisiae) (JHDM1D), mRNA.	313	JmjC.				midbrain development|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)	22	Melanoma(164;0.0142)					AGATTCATAACGTGCCAAATT	0.358													T	139824534	C	T	139824534	3	4	261	1	0	0	0	0	1	0	0	0	8006	536	19	1	1943	1	JHDM1D	7	139824534	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	48112619	139824534	19314129	32	18307											
MGAM	8972	broad.mit.edu	37	chr7	141765179	141765179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggggtcgtcatcacccGctccacatttccctcttctg	5	11	9	16	3	4	0	2	0	2	0	7	1	6	0	3	2	0	1	3	2	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:141765179G>A	uc003vwy.3	+	37	4583	c.4529G>A	c.(4528-4530)cGc>cAc	p.R1510H		NM_004668	NP_004659	O43451	MGA_HUMAN	Homo sapiens maltase-glucoamylase (alpha-glucosidase) (MGAM), mRNA.	1510	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCATCACCCGCTCCACATTT	0.597													A	141765179	G	A	141765179	3	1	261	1	0	0	0	0	1	0	0	0	9616	1087	38	1	4675	1	MGAM	7	141765179	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	1940645	141765179	17373484	33	18308											
KEL	3792	broad.mit.edu	37	chr7	142658027	142658027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcctcacccagtattctccGaagtcggtttttgttctttg	5	18	7	11	2	3	0	1	0	2	0	6	1	4	0	3	1	0	3	3	1	2	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr7:142658027G>A	uc003wcb.3	-	3	598	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W		NM_000420	NP_000411	P23276	KELL_HUMAN	Homo sapiens Kell blood group, metallo-endopeptidase (KEL), mRNA.	130					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGTATTCTCCGAAGTCGGTTT	0.502													A	142658027	G	A	142658027	3	1	261	1	0	0	0	0	1	0	0	0	8200	1057	37	1	1874	1	KEL	7	142658027	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	892848	142658027	16480636	34	18309											
NEFL	4747	broad.mit.edu	37	chr8	24813390	24813390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatttcgtccatcaagctgtCgatgcgcttctcgagctcgg	6	12	11	12	5	2	0	1	0	1	0	7	3	3	0	1	1	3	3	1	1	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr8:24813390C>T	uc003xee.3	-	0	742	c.640G>A	c.(640-642)Gac>Aac	p.D214N		NM_006158	NP_006149	P07196	NFL_HUMAN	Homo sapiens neurofilament, light polypeptide (NEFL), mRNA.	214	Coil 1B.|Rod.				anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATCAAGCTGTCGATGCGCTTC	0.632													T	24813390	C	T	24813390	3	4	261	1	0	0	0	0	1	0	0	0	10391	884	31	1	1008	1	NEFL	8	24813390	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		24813390	121550632	35	18310											
INSL6	11172	broad.mit.edu	37	chr9	5185459	5185459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacggaactggctccagttGgcatggccgcagagtttttc	9	10	12	10	2	0	1	0	0	0	1	2	2	1	2	2	4	2	5	2	4	2	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:5185459G>A	uc003zix.3	-	0	160	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_007179	NP_009110	Q9Y581	INSL6_HUMAN	Homo sapiens insulin-like 6 (INSL6), mRNA.	48						extracellular region	hormone activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(2)	15	all_hematologic(13;0.137)	Breast(48;0.147)|Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0128)|Lung(218;0.145)		GGCTCCAGTTGGCATGGCCGC	0.532													A	5185459	G	A	5185459	2	1	261	1	0	0	0	0	0	0	0	1	7828	1335	47	2		2	INSL6	9	5185459	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08		5185459	136027972	36	18311											
NUDT2	318	broad.mit.edu	37	chr9	34343182	34343182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggagacccaagaggaagCaggcatagaagcaggccagc	15	1	16	9	0	0	3	0	0	0	3	0	6	0	4	2	4	3	3	2	4	4	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:34343182C>T	uc003zuc.3	+	4	475	c.188C>T	c.(187-189)gCa>gTa	p.A63V	NUDT2_uc003zub.3_Missense_Mutation_p.A63V|NUDT2_uc003zud.3_Missense_Mutation_p.A63V|NUDT2_uc022bga.1_Missense_Mutation_p.A63V	NM_147172	NP_671701	P50583	AP4A_HUMAN	Homo sapiens nudix (nucleoside diphosphate linked moiety X)-type motif 2 (NUDT2), transcript variant 2, mRNA.	63	Nudix hydrolase.				induction of apoptosis|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		bis(5'-nucleosyl)-tetraphosphatase (asymmetrical) activity|bis(5'-nucleosyl)-tetraphosphatase (symmetrical) activity|GTP binding			lung(3)	3			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CAAGAGGAAGCAGGCATAGAA	0.493													T	34343182	C	T	34343182	3	4	261	1	0	0	0	0	1	0	0	0	10813	710	25	2	194	2	NUDT2	9	34343182	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	29157723	34343182	106870249	37	18312											
NAA35	60560	broad.mit.edu	37	chr9	88633637	88633637	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtctgacctcaataaataTagccctcctcctcagtctcc	10	12	4	15	0	4	1	2	1	2	0	7	1	6	1	5	0	1	0	5	0	5	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:88633637T>C	uc004aoi.4	+	20	2075	c.1938T>C	c.(1936-1938)taT>taC	p.Y646Y	NAA35_uc004aoj.4_Silent_p.Y646Y	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	646					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TCAATAAATATAGCCCTCCTC	0.363													C	88633637	T	C	88633637	2	2	261	1	0	0	0	0	0	0	0	1	10199	1413	49	3		3	NAA35	9	88633637	Silent	SNP	T	TCGA-76-4929-01A-01D-1486-08	54290455	88633637	52579794	38	18313											
PTPN3	5774	broad.mit.edu	37	chr9	112189356	112189356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccacaagtttttgcaagatCggtaattcagcatgttgaag	12	13	9	7	1	1	2	1	1	0	1	3	2	2	2	1	1	2	5	1	1	4	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:112189356C>T	uc004bed.2	-	11	987	c.875G>A	c.(874-876)cGa>cAa	p.R292Q	PTPN3_uc004beb.2_Missense_Mutation_p.R161Q|PTPN3_uc004bec.2_Missense_Mutation_p.R161Q|PTPN3_uc010mtu.2_Non-coding_Transcript|PTPN3_uc011lwg.1_Missense_Mutation_p.R292Q|PTPN3_uc011lwh.1_Missense_Mutation_p.R183Q|PTPN3_uc011lwe.1_Missense_Mutation_p.R5Q|PTPN3_uc011lwf.1_Missense_Mutation_p.R5Q	NM_002829	NP_001138843	P26045	PTN3_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 3 (PTPN3), transcript variant 1, mRNA.	292	FERM.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						TTTGCAAGATCGGTAATTCAG	0.448													T	112189356	C	T	112189356	3	4	261	1	0	0	0	0	1	0	0	0	12877	884	31	1	1926	1	PTPN3	9	112189356	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	23555719	112189356	29024075	39	18314											
RGS3	5998	broad.mit.edu	37	chr9	116268773	116268773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggcccacgagatccGgtgacaggggacagcgggtg	8	4	19	10	3	0	2	0	1	0	1	1	5	1	4	2	6	2	1	2	6	0	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr9:116268773G>A	uc004bhq.3	+	13	1294	c.1085_splice	c.e13+1	p.R362_splice	RGS3_uc004bhr.3_Splice_Site_p.R250_splice|RGS3_uc004bhs.3_Splice_Site_p.R252_splice|RGS3_uc004bht.3_Splice_Site_p.R81_splice|RGS3_uc010muy.3_Splice_Site_p.R81_splice|RGS3_uc004bhu.3_Splice_Site	NM_144488	NP_652759	P49796	RGS3_HUMAN	Homo sapiens regulator of G-protein signaling 3 (RGS3), transcript variant 6, mRNA.	362	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CACGAGATCCGGTGACAGGGG	0.677													A	116268773	G	A	116268773	3	1	261	1	0	0	0	0	1	0	0	0	13395	1130	39	1	1272	1	RGS3	9	116268773	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	4079417	116268773	24944658	40	18315											
NEBL	10529	broad.mit.edu	37	chr10	21112168	21112168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttctggttttctttaactCtctttagttctggaggatca	6	20	7	8	0	6	0	1	0	5	0	7	2	6	2	0	3	1	2	0	3	2	8			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:21112168C>T	uc001iqi.3	-	18	2328	c.1931G>A	c.(1930-1932)aGa>aAa	p.R644K	NEBL_uc001iqj.3_Non-coding_Transcript|NEBL_uc001iqk.3_Intron|NEBL_uc021pnu.1_Intron	NM_006393	NP_006384	O76041	NEBL_HUMAN	Homo sapiens nebulette (NEBL), transcript variant 1, mRNA.	644					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCTTTAACTCTCTTTAGTTC	0.284													T	21112168	C	T	21112168	3	4	261	1	0	0	0	0	1	0	0	0	10379	913	32	2	1153	2	NEBL	10	21112168	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08		21112168	114422579	41	18316											
RBP3	5949	broad.mit.edu	37	chr10	48390589	48390589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggacttgtgggggaggctCgggggtgctgggctcatagg	4	9	22	6	1	1	0	1	0	0	0	2	2	1	2	0	8	1	3	0	8	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:48390589C>T	uc001jez.3	-	0	403	c.289G>A	c.(289-291)Gag>Aag	p.E97K		NM_002900	NP_002891	P10745	RET3_HUMAN	Homo sapiens retinol binding protein 3, interstitial (RBP3), mRNA.	97	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGGGGAGGCTCGGGGGTGCTG	0.627													T	48390589	C	T	48390589	3	4	261	1	0	0	0	0	1	0	0	0	13245	893	31	1	3470	1	RBP3	10	48390589	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	27278421	48390589	87144158	42	18317											
ADO	84890	broad.mit.edu	37	chr10	64564912	64564912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcggccgcggcgcttcCgatcgcgacgcggcttctgg	2	6	19	14	9	1	0	0	0	1	0	3	2	2	0	2	6	0	2	2	6	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:64564912C>T	uc001jmg.3	+	0	397	c.93C>T	c.(91-93)tcC>tcT	p.S31S		NM_032804	NP_116193	Q96SZ5	AEDO_HUMAN	Homo sapiens 2-aminoethanethiol (cysteamine) dioxygenase (ADO), mRNA.	31							cysteamine dioxygenase activity|metal ion binding			lung(2)	2	Prostate(12;0.0297)|all_hematologic(501;0.228)					GCGGCGCTTCCGATCGCGACG	0.711													T	64564912	C	T	64564912	2	4	261	1	0	0	0	0	0	0	0	1	325	639	23	1		1	ADO	10	64564912	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	16174323	64564912	70969835	43	18318											
NT5C2	22978	broad.mit.edu	37	chr10	104934623	104934623	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaatacttaccgatgataGgcttctcgacgatacttttt	12	14	6	9	3	1	1	0	1	1	0	2	4	1	1	1	1	3	1	1	1	6	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr10:104934623G>A	uc001kwo.3	-	2	286	c.93C>T	c.(91-93)gcC>gcT	p.A31A	NT5C2_uc001kwq.3_Silent_p.A31A|NT5C2_uc001kwp.3_Intron	NM_012229	NP_036361	P49902	5NTC_HUMAN	Homo sapiens 5'-nucleotidase, cytosolic II (NT5C2), transcript variant 1, mRNA.	31					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	ACCGATGATAGGCTTCTCGAC	0.383													A	104934623	G	A	104934623	2	1	261	1	0	0	0	0	0	0	0	1	10763	987	35	2		2	NT5C2	10	104934623	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	40369711	104934623	30600124	44	18319											
SLC22A25	387601	broad.mit.edu	37	chr11	62931319	62931319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcacagagctcctctgagGggcagctaggctatttactc	9	10	11	11	0	1	2	0	1	1	1	3	2	2	2	1	3	4	5	1	3	4	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:62931319G>C	uc001nwr.1	-	8	1621	c.1621C>G	c.(1621-1623)Cct>Gct	p.P541A	SLC22A10_uc010rmo.1_Intron|SLC22A25_uc009yoq.1_Non-coding_Transcript|SLC22A25_uc001nws.1_Non-coding_Transcript	NM_199352	NP_955384	Q6T423	S22AP_HUMAN	Homo sapiens solute carrier family 22, member 25 (SLC22A25), mRNA.	541					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CTCCTCTGAGGGGCAGCTAGG	0.507													C	62931319	G	C	62931319	3	2	261	1	0	0	0	0	1	0	0	0	14548	1232	43	4	26	4	SLC22A25	11	62931319	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		62931319	72075197	45	18320											
LRRC32	2615	broad.mit.edu	37	chr11	76371933	76371933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctggggctgggaggccGtctgaaaggcctcgatgctg	6	7	17	11	2	1	1	0	1	1	0	2	3	1	2	3	5	2	2	3	5	1	0	rs147861179		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr11:76371933G>A	uc001oxq.4	-	2	947	c.704C>T	c.(703-705)aCg>aTg	p.T235M	LRRC32_uc001oxr.4_Missense_Mutation_p.T235M|LRRC32_uc010rsf.2_Missense_Mutation_p.T235M	NM_005512	NP_005503	Q14392	LRC32_HUMAN	Homo sapiens leucine rich repeat containing 32 (LRRC32), transcript variant 1, mRNA.	235						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGGGAGGCCGTCTGAAAGGC	0.617													A	76371933	G	A	76371933	3	1	261	1	0	0	0	0	1	0	0	0	9057	1145	40	1	1288	1	LRRC32	11	76371933	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	13440614	76371933	58634583	46	18321											
PIK3C2G	5288	broad.mit.edu	37	chr12	18544153	18544153	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggagtgtataaaacataTtgccagactttcacagaaac	18	9	7	7	0	1	2	1	0	0	2	1	3	1	3	1	1	3	1	1	1	6	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:18544153T>C	uc001rdt.3	+	13	2086	c.1970T>C	c.(1969-1971)aTt>aCt	p.I657T	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.I698T|PIK3C2G_uc010sic.2_Missense_Mutation_p.I476T	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	657					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATAAAACATATTGCCAGACTT	0.383													C	18544153	T	C	18544153	3	2	261	1	0	0	0	0	1	0	0	0	11988	1493	52	3	2020	3	PIK3C2G	12	18544153	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08		18544153	115307742	47	18322											
KSR2	283455	broad.mit.edu	37	chr12	117962680	117962680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatggccaggtgaggCgggctcatgcaggcacccat	8	7	16	10	1	1	3	1	3	0	0	1	3	1	3	2	5	1	3	2	5	0	0	rs140960062	by1000genomes	TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:117962680C>T	uc001two.2	-	13	2164	c.2109G>A	c.(2107-2109)ccG>ccA	p.P703P		NM_173598	NP_775869	Q6VAB6	KSR2_HUMAN	Homo sapiens kinase suppressor of ras 2 (KSR2), mRNA.	732	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCAGGTGAGGCGGGCTCATGC	0.557													T	117962680	C	T	117962680	2	4	261	1	0	0	0	0	0	0	0	1	8641	755	27	1		1	KSR2	12	117962680	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	99418527	117962680	15889215	48	18323											
TMEM132D	121256	broad.mit.edu	37	chr12	130184667	130184667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgggggtcccctccGgctggtccacggacttcctc	3	8	12	18	3	0	0	0	0	0	0	6	1	5	1	6	5	0	2	6	5	0	1	rs146143180		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr12:130184667G>A	uc009zyl.1	-	1	984	c.656C>T	c.(655-657)cCg>cTg	p.P219L		NM_133448	NP_597705	Q14C87	T132D_HUMAN	Homo sapiens transmembrane protein 132D (TMEM132D), mRNA.	219						integral to membrane		p.P219L(4)|p.P219P(1)|p.P219T(1)|p.Q218H(1)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GGTCCCCTCCGGCTGGTCCAC	0.682													A	130184667	G	A	130184667	3	1	261	1	0	0	0	0	1	0	0	0	16147	1116	39	1	2675	1	TMEM132D	12	130184667	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	12221987	130184667	3667228	49	18324											
LRFN5	145581	broad.mit.edu	37	chr14	42356720	42356720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatacacatgagatgagaGtcctggagggacaaagggca	14	6	14	7	0	1	2	1	2	0	2	2	6	2	4	1	3	1	1	1	3	2	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:42356720G>T	uc001wvm.3	+	2	2090	c.892G>T	c.(892-894)Gtc>Ttc	p.V298F	LRFN5_uc010ana.3_Missense_Mutation_p.V298F	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	298	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGATGAGAGTCCTGGAGGG	0.478										HNSCC(30;0.082)			T	42356720	G	T	42356720	3	4	261	1	0	0	0	0	1	0	0	0	9011	1029	36	4	894	4	LRFN5	14	42356720	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		42356720	64992820	50	18325											
MOAP1	64112	broad.mit.edu	37	chr14	93650454	93650454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcagtctgtactcccccaagGgagctaaaccagcctgcaga	11	6	10	14	0	1	1	0	0	1	1	2	2	2	2	4	1	5	4	4	1	4	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr14:93650454G>A	uc021saw.1	-	0	134	c.134C>T	c.(133-135)cCc>cTc	p.P45L	MOAP1_uc001ybj.3_Missense_Mutation_p.P45L|C14orf109_uc001ybk.4_5'Flank|C14orf109_uc010auo.3_5'Flank|C14orf109_uc021sax.1_5'Flank	NM_022151	NP_071434	Q96BY2	MOAP1_HUMAN	Homo sapiens modulator of apoptosis 1 (MOAP1), mRNA.	45					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		ctcccccaagggagctaaacc	0.557													A	93650454	G	A	93650454	3	1	261	1	0	0	0	0	1	0	0	0	9756	1232	43	2	925	2	MOAP1	14	93650454	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	51293734	93650454	13699086	51	18326											
RBBP6	5930	broad.mit.edu	37	chr16	24581488	24581489	+	Frame_Shift_Del	DEL	TT	TT	-																															gaaaaaggcgtagataaagaTtttgagtcttcttcaatgaa																										TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:24581488_24581489delTT	uc002dmh.3	+	16	4517_4518	c.3477_3478delTT	c.(3475-3480)gattttfs	p.D1159fs	RBBP6_uc010vcb.1_Frame_Shift_Del_p.D1026fs|RBBP6_uc002dmi.3_Frame_Shift_Del_p.D1125fs|RBBP6_uc010bxr.3_Intron|RBBP6_uc002dmk.3_Frame_Shift_Del_p.D992fs	NM_006910	NP_008841	Q7Z6E9	RBBP6_HUMAN	Homo sapiens retinoblastoma binding protein 6 (RBBP6), transcript variant 1, mRNA.	1159					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		TAGATAAAGATTTTGAGTCTTC	0.342													-	24581489	TT	-	24581488	7	5	261	1	0	1	0	1	0	0	0	0	13191	1490	52	0	3597	0	RBBP6	16	24581488	Frame_Shift_Del	DEL	TT	TCGA-76-4929-01A-01D-1486-08		24581488	65773265	52	18327											
IRX5	10265	broad.mit.edu	37	chr16	54967470	54967470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcagccgggcgtcgccggcCccggcgccgtcacgctcgcc	2	3	16	20	9	1	0	1	0	0	0	3	0	1	0	6	4	1	2	6	4	0	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:54967470C>T	uc002ehv.3	+	2	1137	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	IRX5_uc021tin.1_Silent_p.A378A|IRX5_uc002ehw.3_Silent_p.A313A	NM_005853	NP_005844	P78411	IRX5_HUMAN	Homo sapiens iroquois homeobox 5 (IRX5), transcript variant 1, mRNA.	379					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						CGTCGCCGGCCCCGGCGCCGT	0.721													T	54967470	C	T	54967470	2	4	261	1	0	0	0	0	0	0	0	1	7905	610	22	2		2	IRX5	16	54967470	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	30385982	54967470	35387283	53	18328											
CLEC3A	10143	broad.mit.edu	37	chr16	78064624	78064624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaccgtgcacagcctaaCggtggcaagcgagaaaactg	12	5	14	10	3	0	1	0	0	0	1	0	3	0	2	2	3	5	2	2	3	4	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr16:78064624C>T	uc002ffh.4	+	2	561	c.480C>T	c.(478-480)aaC>aaT	p.N160N	CLEC3A_uc021tlr.1_Silent_p.N108N	NM_005752	NP_005743	O75596	CLC3A_HUMAN	Homo sapiens C-type lectin domain family 3, member A (CLEC3A), transcript variant 1, mRNA.	160	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CACAGCCTAACGGTGGCAAGC	0.522													T	78064624	C	T	78064624	2	4	261	1	0	0	0	0	0	0	0	1	3541	535	19	1		1	CLEC3A	16	78064624	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	23097154	78064624	12290129	54	18329											
ACAP1	9744	broad.mit.edu	37	chr17	7253543	7253543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatggaaacagccaacgctGacatcgtcaccctgtaagaa	14	6	8	13	2	1	2	1	1	0	1	2	3	1	3	3	1	3	2	3	1	4	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7253543G>A	uc002ggd.2	+	19	2265	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N	KCTD11_uc002gge.4_5'Flank	NM_014716	NP_055531	Q15027	ACAP1_HUMAN	Homo sapiens ArfGAP with coiled-coil, ankyrin repeat and PH domains 1 (ACAP1), mRNA.	687	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						AGCCAACGCTGACATCGTCAC	0.682													A	7253543	G	A	7253543	3	1	261	1	0	0	0	0	1	0	0	0	118	1290	45	2	2137	2	ACAP1	17	7253543	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		7253543	73941667	55	18330											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7574003G>A	uc002gim.2	-	9	1218	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Intron|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Nonsense_Mutation_p.R210*|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Nonsense_Mutation_p.R342*|DL476313_uc021tpe.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(132)|p.R342fs*3(17)|p.0?(8)|p.R342P(3)|p.R342_N345delRELN(2)|p.R342Q(2)|p.?(1)|p.F341fs*4(1)|p.F341C(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557		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)			A	7574003	G	A	7574003	4	1	261	1	0	0	0	0	0	1	0	0	16482	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	320460	7574003	73621207	56	18331											
TP53	7157	broad.mit.edu	37	chr17	7578476	7578476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcggacgcgggtgccgggcgGgggtgtggaatcaacccaca	7	4	19	11	5	1	0	1	0	0	0	1	2	1	2	2	6	2	0	2	6	2	0	rs137852790		TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:7578476G>A	uc002gim.2	-	4	648	c.454C>T	c.(454-456)Ccg>Tcg	p.P152S	TP53_uc002gig.1_Missense_Mutation_p.P152S|TP53_uc002gih.3_Missense_Mutation_p.P152S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.P20S|TP53_uc010cnf.1_Missense_Mutation_p.P20S|TP53_uc002gii.1_Missense_Mutation_p.P20S|TP53_uc010cni.1_Missense_Mutation_p.P152S|TP53_uc010cnh.1_Missense_Mutation_p.P152S|TP53_uc002gij.2_Missense_Mutation_p.P152S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.P59S|TP53_uc002gio.2_Missense_Mutation_p.P20S|TP53_uc010vug.2_Missense_Mutation_p.P113S	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P151S(66)|p.P152L(64)|p.P152S(44)|p.P151H(27)|p.P152fs*18(20)|p.P152T(14)|p.P151T(14)|p.P151P(12)|p.P152fs*29(10)|p.P152fs*14(10)|p.P151A(9)|p.0?(8)|p.P151L(7)|p.P151fs*30(7)|p.P151R(7)|p.P152R(6)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152A(4)|p.P152fs*28(4)|p.P152Q(4)|p.P151_V173del23(2)|p.P152_P153del(2)|p.D148_T155delDSTPPPGT(2)|p.T150_P153delTPPP(2)|p.P152del(2)|p.Q144_G154del11(2)|p.P153fs*16(1)|p.P151del(1)|p.T57fs*16(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		GTGCCGGGCGGGGGTGTGGAA	0.607		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)			A	7578476	G	A	7578476	3	1	261	1	0	0	0	0	1	0	0	0	16482	1232	43	2	844	2	TP53	17	7578476	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	4473	7578476	73616734	57	18332											
PFAS	5198	broad.mit.edu	37	chr17	8170745	8170745	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagggcagtaatggagaccgGgagatggccgatgccttcca	10	6	16	9	2	0	2	0	0	0	2	1	6	1	2	4	4	1	2	4	4	1	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:8170745G>A	uc002gkr.3	+	24	3372	c.3231G>A	c.(3229-3231)cgG>cgA	p.R1077R	PFAS_uc010vuv.2_Silent_p.R653R|PFAS_uc002gks.3_Silent_p.R156R	NM_012393	NP_036525	O15067	PUR4_HUMAN	Homo sapiens phosphoribosylformylglycinamidine synthase (PFAS), mRNA.	1077	Glutamine amidotransferase type-1.				'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ATGGAGACCGGGAGATGGCCG	0.612													A	8170745	G	A	8170745	2	1	261	1	0	0	0	0	0	0	0	1	11831	1219	43	2		2	PFAS	17	8170745	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	592269	8170745	73024465	58	18333											
KRT13	3860	broad.mit.edu	37	chr17	39661389	39661389	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgcttcaggtgccaGtcacggatcttcacctccag	6	10	11	14	1	5	0	3	0	2	0	6	1	6	1	3	3	2	2	3	3	0	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:39661389G>A	uc002hwu.1	-	0	477	c.414C>T	c.(412-414)gaC>gaT	p.D138D	KRT13_uc002hwv.1_Silent_p.D138D|KRT13_uc010wfr.2_Silent_p.D31D|KRT13_uc010cxo.3_Silent_p.D138D|KRT13_uc021txk.1_Silent_p.D31D	NM_153490	NP_705694	P13646	K1C13_HUMAN	Homo sapiens keratin 13 (KRT13), transcript variant 1, mRNA.	138	Coil 1A.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R137H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TCAGGTGCCAGTCACGGATCT	0.602													A	39661389	G	A	39661389	2	1	261	1	0	0	0	0	0	0	0	1	8508	1020	36	2		2	KRT13	17	39661389	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	31490644	39661389	41533821	59	18334											
FMNL1	752	broad.mit.edu	37	chr17	43320637	43320637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaagaacttggccatcacCctgcggaagggcaacctggg	10	5	13	13	1	1	1	1	0	0	1	1	2	1	2	4	4	3	1	4	4	4	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:43320637C>T	uc002iin.3	+	16	2363	c.2163C>T	c.(2161-2163)acC>acT	p.T721T	FMNL1_uc002iiq.3_Silent_p.T299T|FMNL1_uc010dag.3_Non-coding_Transcript|FMNL1_uc021tyj.1_Silent_p.T48T	NM_005892	NP_005883	O95466	FMNL_HUMAN	Homo sapiens formin-like 1 (FMNL1), mRNA.	721	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TGGCCATCACCCTGCGGAAGG	0.642													T	43320637	C	T	43320637	2	4	261	1	0	0	0	0	0	0	0	1	6000	610	22	2		2	FMNL1	17	43320637	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	3659248	43320637	37874573	60	18335											
RGS9	8787	broad.mit.edu	37	chr17	63193312	63193312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcgaattgatccgagaccCcaaaggtcgacagagcttcc	12	6	10	13	3	0	3	0	1	0	2	3	6	2	3	4	1	2	1	4	1	2	2			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr17:63193312C>T	uc002jfe.3	+	12	1132	c.929C>T	c.(928-930)cCc>cTc	p.P310L	RGS9_uc021ubw.1_Missense_Mutation_p.P307L|RGS9_uc010dem.3_Missense_Mutation_p.P307L|RGS9_uc002jfd.3_Missense_Mutation_p.P307L|RGS9_uc002jfg.3_Missense_Mutation_p.P81L	NM_003835	NP_003826	O75916	RGS9_HUMAN	Homo sapiens regulator of G-protein signaling 9 (RGS9), transcript variant 1, mRNA.	310	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						ATCCGAGACCCCAAAGGTCGA	0.423													T	63193312	C	T	63193312	3	4	261	1	0	0	0	0	1	0	0	0	13402	623	22	2	979	2	RGS9	17	63193312	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	19872675	63193312	18001898	61	18336											
ICAM5	7087	broad.mit.edu	37	chr19	10405102	10405102	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagatggatgaatctacCtgcccaagtcaccagacgtg	11	7	11	12	2	2	3	1	1	1	2	2	5	2	4	4	2	2	0	4	2	3	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr19:10405102C>A	uc002mnu.4	+	8	2081	c.2016C>A	c.(2014-2016)acC>acA	p.T672T	ICAM5_uc002mnv.4_Silent_p.T547T	NM_003259	NP_003250	Q9UMF0	ICAM5_HUMAN	Homo sapiens intercellular adhesion molecule 5, telencephalin (ICAM5), mRNA.	672	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			ATGAATCTACCTGCCCAAGTC	0.692													A	10405102	C	A	10405102	2	1	261	1	0	0	0	0	0	0	0	1	7541	668	24	4		4	ICAM5	19	10405102	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08		10405102	48723881	62	18337											
NANP	140838	broad.mit.edu	37	chr20	25597030	25597030	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaaataacattcttcaGccaattttctattggctgca	14	13	6	8	0	3	0	1	0	2	0	3	1	3	1	1	2	3	2	1	2	5	7			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:25597030G>C	uc002wuy.3	-	1	342	c.278C>G	c.(277-279)gCt>gGt	p.A93G		NM_152667	NP_689880	Q8TBE9	NANP_HUMAN	Homo sapiens N-acetylneuraminic acid phosphatase (NANP), mRNA.	93					N-acetylneuraminate biosynthetic process		N-acylneuraminate-9-phosphatase activity|phosphoglycolate phosphatase activity			endometrium(2)|lung(2)|prostate(1)	5						ACATTCTTCAGCCAATTTTCT	0.403													C	25597030	G	C	25597030	3	2	261	1	0	0	0	0	1	0	0	0	10230	971	34	4	472	4	NANP	20	25597030	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08		25597030	37428490	63	18338											
CDH4	1002	broad.mit.edu	37	chr20	60509217	60509217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggccggtgggcgctgagcCccagtacccgatcaggccca	6	4	15	16	4	1	1	1	1	0	0	1	2	1	1	5	4	2	2	5	4	1	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:60509217C>T	uc002ybn.2	+	14	2571	c.2483C>T	c.(2482-2484)cCc>cTc	p.P828L	CDH4_uc002ybr.2_Missense_Mutation_p.P791L|CDH4_uc002ybp.2_Missense_Mutation_p.P754L	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	828					adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGCGCTGAGCCCCAGTACCCG	0.677													T	60509217	C	T	60509217	3	4	261	1	0	0	0	0	1	0	0	0	3142	623	22	2	2541	2	CDH4	20	60509217	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	34912187	60509217	2516303	64	18339											
NTSR1	4923	broad.mit.edu	37	chr20	61341151	61341151	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctggctcgcctcggccCtgctggcggtgcctatgctg	2	10	13	16	3	1	0	0	0	1	0	3	0	1	0	4	4	3	3	4	4	1	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr20:61341151C>A	uc002ydf.3	+	0	963	c.592C>A	c.(592-594)Ctg>Atg	p.L198M		NM_002531	NP_002522	P30989	NTR1_HUMAN	Homo sapiens neurotensin receptor 1 (high affinity) (NTSR1), mRNA.	198						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			CGCCTCGGCCCTGCTGGCGGT	0.672													A	61341151	C	A	61341151	3	1	261	1	0	0	0	0	1	0	0	0	10786	680	24	4	594	4	NTSR1	20	61341151	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	831934	61341151	1684369	65	18340											
GAB4	128954	broad.mit.edu	37	chr22	17450832	17450832	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccttgaaggggtacacaCcctcattatccgcctcagag	9	9	10	13	1	2	2	2	1	0	1	3	2	3	2	4	2	2	1	4	2	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:17450832C>T	uc002zlw.3	-	4	1045	c.937_splice	c.e4+1	p.A313_splice	GAB4_uc010gqs.1_Intron	NM_001037814	NP_001032903	Q2WGN9	GAB4_HUMAN	Homo sapiens GRB2-associated binding protein family, member 4 (GAB4), mRNA.	313										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GGGGTACACACCCTCATTATC	0.597													T	17450832	C	T	17450832	5	4	261	1	0	0	0	0	0	0	1	0	6203	521	18	2	814	2	GAB4	22	17450832	Splice_Site	SNP	C	TCGA-76-4929-01A-01D-1486-08		17450832	33853734	66	18341											
DEPDC5	9681	broad.mit.edu	37	chr22	32234828	32234828	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagcccactctatagcCgaggtgagtttttctccttg	7	13	10	11	1	2	1	0	1	2	0	3	2	2	1	3	1	2	3	3	1	3	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chr22:32234828C>T	uc011alu.2	+	26	2714	c.2512C>T	c.(2512-2514)Cga>Tga	p.R838*	DEPDC5_uc011als.2_Nonsense_Mutation_p.R760*|DEPDC5_uc003als.3_Nonsense_Mutation_p.R829*|DEPDC5_uc011alv.2_Non-coding_Transcript|DEPDC5_uc003alt.3_Nonsense_Mutation_p.R829*|DEPDC5_uc003alv.3_Non-coding_Transcript|DEPDC5_uc003alu.3_Nonsense_Mutation_p.R278*|DEPDC5_uc011alw.1_Nonsense_Mutation_p.R159*|DEPDC5_uc003alw.3_Nonsense_Mutation_p.R127*|DEPDC5_uc011alx.2_Intron	NM_001242896	NP_001229825	O75140	DEPD5_HUMAN	Homo sapiens DEP domain containing 5 (DEPDC5), transcript variant 4, mRNA.	829					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACTCTATAGCCGAGGTGAGTT	0.458													T	32234828	C	T	32234828	4	4	261	1	0	0	0	0	0	1	0	0	4481	644	23	1	2605	1	DEPDC5	22	32234828	Nonsense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	14783996	32234828	19069738	67	18342											
GYG2	8908	broad.mit.edu	37	chrX	2799206	2799206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtatcgactacatggggaaGgacgcgtttgctcgcatcca	9	9	12	11	5	0	0	0	0	0	0	3	3	1	2	1	3	2	4	1	3	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:2799206G>A	uc004cqs.1	+	11	1740	c.1458G>A	c.(1456-1458)aaG>aaA	p.K486K	GYG2_uc004cqu.1_Silent_p.K454K|GYG2_uc004cqx.2_Silent_p.K415K|GYG2_uc004cqt.1_Silent_p.K455K|GYG2_uc004cqv.1_Silent_p.K229K|GYG2_uc004cqw.1_Silent_p.K446K|GYG2_uc010ndc.1_Silent_p.K264K	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	486					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACATGGGGAAGGACGCGTTTG	0.552													A	2799206	G	A	2799206	2	1	261	1	0	0	0	0	0	0	0	1	6961	991	35	2		2	GYG2	23	2799206	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08		2799206	152471354	68	18343											
MXRA5	25878	broad.mit.edu	37	chrX	3229254	3229254	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctcatctcgtccttcccGacctgattttcagcaaagca	9	12	5	15	2	3	1	2	1	2	0	7	2	5	1	3	0	2	2	3	0	1	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:3229254G>A	uc004crg.4	-	6	7147	c.6990C>T	c.(6988-6990)gtC>gtT	p.V2330V		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	2330	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTCCTTCCCGACCTGATTTT	0.542													A	3229254	G	A	3229254	2	1	261	1	0	0	0	0	0	0	0	1	10079	1045	37	1		1	MXRA5	23	3229254	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	430048	3229254	152041306	69	18344											
ARHGAP6	395	broad.mit.edu	37	chrX	11272748	11272748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcagccgggccctcTccagctctgagagactctgg	5	9	11	16	1	3	2	0	1	3	1	5	3	4	2	4	2	3	2	4	2	0	1			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:11272748T>C	uc004cup.1	-	1	1541	c.668A>G	c.(667-669)gAg>gGg	p.E223G	ARHGAP6_uc004cuo.1_Non-coding_Transcript|ARHGAP6_uc004cur.1_Missense_Mutation_p.E223G|ARHGAP6_uc004cum.1_Missense_Mutation_p.E20G|ARHGAP6_uc004cun.1_Missense_Mutation_p.E43G|ARHGAP6_uc010neb.1_Missense_Mutation_p.E45G|ARHGAP6_uc011mif.1_Missense_Mutation_p.E20G	NM_013427	NP_038286	O43182	RHG06_HUMAN	Homo sapiens Rho GTPase activating protein 6 (ARHGAP6), transcript variant 1, mRNA.	223					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CCGGGCCCTCTCCAGCTCTGA	0.522													C	11272748	T	C	11272748	3	2	261	1	0	0	0	0	1	0	0	0	890	1551	54	3	2426	3	ARHGAP6	23	11272748	Missense_Mutation	SNP	T	TCGA-76-4929-01A-01D-1486-08	8043494	11272748	143997812	70	18345											
CDKL5	6792	broad.mit.edu	37	chrX	18627018	18627018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctcttccttccatacaCgccagaagtctgaggtatgt	9	11	8	13	1	2	2	0	1	2	1	4	2	4	2	4	1	1	2	4	1	3	4			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:18627018C>T	uc004cym.3	+	12	2285	c.2032C>T	c.(2032-2034)Cgc>Tgc	p.R678C	CDKL5_uc004cyn.3_Missense_Mutation_p.R678C|CDKL5_uc022btn.1_Missense_Mutation_p.R669C	NM_003159	NP_003150	O76039	CDKL5_HUMAN	Homo sapiens cyclin-dependent kinase-like 5 (CDKL5), transcript variant I, mRNA.	678					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTTCCATACACGCCAGAAGTC	0.433													T	18627018	C	T	18627018	3	4	261	1	0	0	0	0	1	0	0	0	3187	536	19	1	2078	1	CDKL5	23	18627018	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	7354270	18627018	136643542	71	18346											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972739	29972739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgttttgcccttgaaatcctAcctgatatgcttgaaaagca	11	13	7	10	1	0	3	0	3	0	0	1	3	1	3	3	0	4	3	3	0	5	6			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:29972739A>G	uc004dby.2	+	9	1810	c.1302A>G	c.(1300-1302)ctA>ctG	p.L434L		NM_014271	NP_055086	Q9NZN1	IRPL1_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 1 (IL1RAPL1), mRNA.	434	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TTGAAATCCTACCTGATATGC	0.363													G	29972739	A	G	29972739	2	3	261	1	0	0	0	0	0	0	0	1	7719	378	14	3		3	IL1RAPL1	23	29972739	Silent	SNP	A	TCGA-76-4929-01A-01D-1486-08	11345721	29972739	125297821	72	18347											
GRIPAP1	56850	broad.mit.edu	37	chrX	48831638	48831638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgttcatctcccgaaGgttctcgtcgcctggcttca	4	15	8	14	3	5	0	2	0	3	0	8	1	5	0	2	2	0	3	2	2	1	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:48831638G>A	uc004dly.1	-	24	2397	c.2362C>T	c.(2362-2364)Ctt>Ttt	p.L788F		NM_020137	NP_064522	Q4V328	GRAP1_HUMAN	Homo sapiens GRIP1 associated protein 1 (GRIPAP1), transcript variant 1, mRNA.	788						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						ATCTCCCGAAGGTTCTCGTCG	0.592													A	48831638	G	A	48831638	3	1	261	1	0	0	0	0	1	0	0	0	6844	1000	35	2	171	2	GRIPAP1	23	48831638	Missense_Mutation	SNP	G	TCGA-76-4929-01A-01D-1486-08	18858899	48831638	106438922	73	18348											
NOX1	27035	broad.mit.edu	37	chrX	100117739	100117739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggagagaatggaggcaagGgagccatctgtggcctgtcg	9	7	17	8	1	1	1	0	0	1	1	2	5	1	4	2	5	1	1	2	5	2	0			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:100117739G>A	uc004egj.3	-	4	614	c.408C>T	c.(406-408)tcC>tcT	p.S136S	NOX1_uc004egl.4_Silent_p.S136S|NOX1_uc010nne.3_Silent_p.S99S	NM_007052	NP_008983	Q9Y5S8	NOX1_HUMAN	Homo sapiens NADPH oxidase 1 (NOX1), transcript variant NOH-1L, mRNA.	136	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGGAGGCAAGGGAGCCATCTG	0.453													A	100117739	G	A	100117739	2	1	261	1	0	0	0	0	0	0	0	1	10632	1219	43	2		2	NOX1	23	100117739	Silent	SNP	G	TCGA-76-4929-01A-01D-1486-08	51286101	100117739	55152821	74	18349											
BHLHB9	80823	broad.mit.edu	37	chrX	102004877	102004877	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccttgcaaaatggaatgCtatatggattctgaggaatt	12	14	10	5	0	1	1	0	1	1	0	2	4	2	4	1	3	2	2	1	3	6	5			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:102004877C>T	uc022cbi.1	+	0	954	c.954C>T	c.(952-954)tgC>tgT	p.C318C	BHLHB9_uc010nog.3_Silent_p.C318C|BHLHB9_uc011mrq.2_Silent_p.C318C|BHLHB9_uc011mrr.2_Silent_p.C318C|BHLHB9_uc011mrs.2_Silent_p.C318C|BHLHB9_uc011mrt.2_Silent_p.C318C|BHLHB9_uc004ejo.3_Silent_p.C318C|BHLHB9_uc011mru.2_Silent_p.C318C|BHLHB9_uc011mrv.2_Silent_p.C318C	NM_030639	NP_085142	Q6PI77	BHLH9_HUMAN	Homo sapiens basic helix-loop-helix domain containing, class B, 9 (BHLHB9), transcript variant 2, mRNA.	318			C -> R (in dbSNP:rs4514179).			cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AAATGGAATGCTATATGGATT	0.398													T	102004877	C	T	102004877	2	4	261	1	0	0	0	0	0	0	0	1	1426	805	28	2		2	BHLHB9	23	102004877	Silent	SNP	C	TCGA-76-4929-01A-01D-1486-08	1887138	102004877	53265683	75	18350											
MAGEA4	4103	broad.mit.edu	37	chrX	151093031	151093031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagggtcaatgcaagagttCgcattgcctacccatccctg	9	10	9	13	1	2	1	2	0	0	1	4	1	3	1	3	1	3	3	3	1	3	3			TCGA-76-4929-01A-01D-1486-08	TCGA-76-4929-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	af4f8b89-837a-48b7-b0e7-12aec23fc285	3e0712a1-b66a-42e7-94a3-07edee7dce2b	g.chrX:151093031C>T	uc022cgv.1	+	0	895	c.895C>T	c.(895-897)Cgc>Tgc	p.R299C	MAGEA4_uc004fez.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffa.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffb.3_Missense_Mutation_p.R299C|MAGEA4_uc022cgu.1_Missense_Mutation_p.R327C|MAGEA4_uc004ffc.3_Missense_Mutation_p.R299C|MAGEA4_uc004ffd.3_Missense_Mutation_p.R299C	NM_002362	NP_002353	P43358	MAGA4_HUMAN	Homo sapiens melanoma antigen family A, 4 (MAGEA4), transcript variant 2, mRNA.	299	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGCAAGAGTTCGCATTGCCTA	0.567													T	151093031	C	T	151093031	3	4	261	1	0	0	0	0	1	0	0	0	9241	884	31	1	897	1	MAGEA4	23	151093031	Missense_Mutation	SNP	C	TCGA-76-4929-01A-01D-1486-08	49088154	151093031	4177529	76	18351											
KIF1B	23095	broad.mit.edu	37	chr1	10425617	10425617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatctcaaccactacctttGaaagcgccatcacacctagc	13	8	5	15	1	2	2	2	1	1	1	3	2	2	2	4	0	4	0	4	0	4	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:10425617G>C	uc001aqx.4	+	42	4865	c.4663G>C	c.(4663-4665)Gaa>Caa	p.E1555Q	KIF1B_uc001aqw.4_Missense_Mutation_p.E1509Q|KIF1B_uc001aqy.3_Missense_Mutation_p.E1529Q|KIF1B_uc001aqz.3_Missense_Mutation_p.E1555Q|KIF1B_uc001ara.3_Missense_Mutation_p.E1515Q|KIF1B_uc001arb.3_Missense_Mutation_p.E1541Q	NM_015074	NP_055889	O60333	KIF1B_HUMAN	Homo sapiens kinesin family member 1B (KIF1B), transcript variant 1, mRNA.	1555					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.E1509K(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CACTACCTTTGAAAGCGCCAT	0.552													C	10425617	G	C	10425617	3	2	262	1	0	0	0	0	1	0	0	0	8342	1291	45	4	6172	4	KIF1B	1	10425617	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		10425617	238825004	1	18352											
CLCNKA	1188	broad.mit.edu	37	chr1	16374889	16374889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctacctgggccgtgtgCgcaccacgaccatcggggag	6	6	14	15	4	0	0	0	0	0	0	1	2	0	1	5	3	3	1	5	3	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:16374889C>T	uc001axx.4	+	5	686	c.550C>T	c.(550-552)Cgc>Tgc	p.R184C	CLCNKA_uc021ogl.1_Intron|CLCNKA_uc021ogm.1_5'Flank|CLCNKA_uc001axy.4_5'Flank	NM_000085	NP_000076	P51800	CLCKA_HUMAN	Homo sapiens chloride channel Kb (CLCNKB), transcript variant 1, mRNA.	184					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.R184H(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	GGGCCGTGTGCGCACCACGAC	0.662													T	16374889	C	T	16374889	3	4	262	1	0	0	0	0	1	0	0	0	3500	768	27	1		1	CLCNKA	1	16374889	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	5949272	16374889	232875732	2	18353											
CTH	1491	broad.mit.edu	37	chr1	70881655	70881655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggttttgaatatagccGttctggaaatcccactagga	11	12	10	8	1	2	1	1	1	1	0	3	3	3	3	2	3	1	2	2	3	5	6			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:70881655G>T	uc001dfd.3	+	1	383	c.185G>T	c.(184-186)cGt>cTt	p.R62L	CTH_uc009wbl.2_Non-coding_Transcript|CTH_uc010oqq.2_Missense_Mutation_p.R62L|CTH_uc001dfe.3_Missense_Mutation_p.R62L	NM_001902	NP_001893	P32929	CGL_HUMAN	Homo sapiens cystathionase (cystathionine gamma-lyase) (CTH), transcript variant 1, mRNA.	62					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	GAATATAGCCGTTCTGGAAAT	0.378													T	70881655	G	T	70881655	3	4	262	1	0	0	0	0	1	0	0	0	4042	1145	40	4	191	4	CTH	1	70881655	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	54506766	70881655	178368966	3	18354											
SPRR2B	6701	broad.mit.edu	37	chr1	153043127	153043127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcggtggatactttggctgGcagggtggggaaggtgtcac	6	11	18	6	1	1	0	1	0	0	0	2	2	1	2	0	8	1	2	0	8	2	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:153043127G>A	uc001fbg.3	-	1	249	c.189C>T	c.(187-189)tgC>tgT	p.C63C	SPRR2A_uc001fbf.3_Intron	NM_001017418	NP_001017418	P35325	SPR2B_HUMAN	Homo sapiens small proline-rich protein 2B (SPRR2B), mRNA.	63					keratinization	cornified envelope|cytoplasm		p.C63F(1)		endometrium(2)|large_intestine(1)|lung(2)	5	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACTTTGGCTGGCAGGGTGGGG	0.557													A	153043127	G	A	153043127	2	1	262	1	0	0	0	0	0	0	0	1	15194	1195	42	2		2	SPRR2B	1	153043127	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	82161472	153043127	96207494	4	18355											
CHRNB2	1141	broad.mit.edu	37	chr1	154542048	154542048	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgagctggtgacagtaCagcttatggtgtcactggcc	7	11	13	10	0	2	2	1	2	1	0	2	2	2	2	1	3	3	4	1	3	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:154542048C>T	uc001ffg.3	+	1	439	c.175C>T	c.(175-177)Cag>Tag	p.Q59*		NM_000748	NP_000739	P17787	ACHB2_HUMAN	Homo sapiens cholinergic receptor, nicotinic, beta 2 (neuronal) (CHRNB2), mRNA.	59					B cell activation|behavioral response to nicotine|calcium ion transport|central nervous system projection neuron axonogenesis|lateral geniculate nucleus development|locomotory behavior|membrane depolarization|memory|negative regulation of action potential|optic nerve morphogenesis|positive regulation of B cell proliferation|positive regulation of dopamine secretion|regulation of circadian sleep/wake cycle, REM sleep|regulation of dendrite morphogenesis|regulation of dopamine metabolic process|regulation of synaptogenesis|response to cocaine|response to ethanol|response to hypoxia|sensory perception of pain|sensory perception of sound|smooth muscle contraction|social behavior|synaptic transmission involved in micturition|synaptic transmission, cholinergic|vestibulocochlear nerve development|visual learning|visual perception	cell junction|external side of plasma membrane|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|skin(1)|urinary_tract(3)	28	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)		Nicotine(DB00184)	GGTGACAGTACAGCTTATGGT	0.557													T	154542048	C	T	154542048	4	4	262	1	0	0	0	0	0	1	0	0	3421	479	17	2	181	2	CHRNB2	1	154542048	Nonsense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	1498921	154542048	94708573	5	18356											
OBSCN	84033	broad.mit.edu	37	chr1	228564849	228564849	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaggacaagacagcAgtgctgcgcgaatacgaggc	13	3	12	13	3	0	1	0	0	0	1	0	4	0	2	2	2	4	2	2	2	4	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:228564849A>G	uc009xez.1	+	100	23180	c.23136A>G	c.(23134-23136)gcA>gcG	p.A7712A	OBSCN_uc001hsr.1_Silent_p.A2341A	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	7712	Protein kinase 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACAAGACAGCAGTGCTGCGCG	0.692													G	228564849	A	G	228564849	2	3	262	1	0	0	0	0	0	0	0	1	10888	175	7	3		3	OBSCN	1	228564849	Silent	SNP	A	TCGA-76-4931-01A-01D-1486-08	74022801	228564849	20685772	6	18357											
ZP4	57829	broad.mit.edu	37	chr1	238050695	238050695	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcttgtggtgccacaggaAgtaaatggaaactggaacag	13	9	13	6	0	1	0	0	0	1	0	1	3	1	3	1	4	3	1	1	4	5	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:238050695A>G	uc001hym.3	-	4	1007	c.720T>C	c.(718-720)acT>acC	p.T240T	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	240	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGCCACAGGAAGTAAATGGAA	0.502													G	238050695	A	G	238050695	2	3	262	1	0	0	0	0	0	0	0	1	18317	59	3	3		3	ZP4	1	238050695	Silent	SNP	A	TCGA-76-4931-01A-01D-1486-08	9485846	238050695	11199926	7	18358											
C1orf150	148823	broad.mit.edu	37	chr1	247712494	247712494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgagtcactgtgaaaagAtgggaaattatctcctgcga	14	9	10	8	2	2	2	1	1	1	1	3	5	2	3	2	1	2	0	2	1	5	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr1:247712494A>G	uc001idf.3	+	0	148	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	C1orf150_uc009xgw.3_Intron|C1orf150_uc001ida.4_Non-coding_Transcript|C1orf150_uc001idb.4_Non-coding_Transcript|C1orf150_uc009xgx.3_Intron	NM_145278	NP_660321	Q5JQS6	CA150_HUMAN	Homo sapiens chromosome 1 open reading frame 150 (C1orf150), mRNA.	1										breast(1)|large_intestine(2)|lung(10)|skin(2)	15	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CTGTGAAAAGATGGGAAATTA	0.488													G	247712494	A	G	247712494	3	3	262	1	0	0	0	0	1	0	0	0	2024	333	12	3	3	3	C1orf150	1	247712494	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	9661799	247712494	1538127	8	18359											
XDH	7498	broad.mit.edu	37	chr2	31571198	31571198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtgggtcagcagcacagagCcatctgtgtacacatgaagt	11	8	12	10	1	2	2	1	1	1	1	2	2	2	2	1	1	4	3	1	1	2	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:31571198C>T	uc002rnv.1	-	27	3162	c.3083G>A	c.(3082-3084)gGc>gAc	p.G1028D		NM_000379	NP_000370	P47989	XDH_HUMAN	Homo sapiens xanthine dehydrogenase (XDH), mRNA.	1028					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CAGCACAGAGCCATCTGTGTA	0.517													T	31571198	C	T	31571198	3	4	262	1	0	0	0	0	1	0	0	0	17528	739	26	2	954	2	XDH	2	31571198	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		31571198	211628175	9	18360											
SERTAD2	9792	broad.mit.edu	37	chr2	64863694	64863694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtggctgaaggccggCggggcctctcggtagctgtc	4	7	18	12	3	1	1	0	1	1	0	3	1	1	1	3	7	1	3	3	7	2	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:64863694C>T	uc021viq.1	-	0	312	c.312G>A	c.(310-312)ccG>ccA	p.P104P	SERTAD2_uc002sde.2_Silent_p.P104P	NM_014755	NP_055570	Q14140	SRTD2_HUMAN	Homo sapiens SERTA domain containing 2 (SERTAD2), mRNA.	104					negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus		p.P104L(1)|p.A103S(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						TGAAGGCCGGCGGGGCCTCTC	0.697													T	64863694	C	T	64863694	2	4	262	1	0	0	0	0	0	0	0	1	14214	755	27	1		1	SERTAD2	2	64863694	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08	33292496	64863694	178335679	10	18361											
TTN	7273	broad.mit.edu	37	chr2	179474028	179474028	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtcggagagaatctcGgacgcgtagctgagattctc	9	9	14	9	4	3	2	1	1	2	2	6	6	3	4	0	3	1	2	0	3	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr2:179474028G>A	uc021vsy.1	-	221	44530	c.44305C>T	c.(44305-44307)Cga>Tga	p.R14769*	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Nonsense_Mutation_p.R8464*|TTN_uc021vta.1_Nonsense_Mutation_p.R8397*|TTN_uc021vtb.1_Nonsense_Mutation_p.R8272*	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	15696	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R14769*(2)|p.R8272*(1)|p.R8464*(1)|p.R8397*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAGAATCTCGGACGCGTAGC	0.453													A	179474028	G	A	179474028	4	1	262	1	0	0	0	0	0	1	0	0	16837	1124	39	1	56044	1	TTN	2	179474028	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	114610334	179474028	63725345	11	18362											
ZFP42	132625	broad.mit.edu	37	chr4	188924640	188924640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaatgtgggaaagcgttcGttgagagctcaaaactaaag	14	8	13	6	3	1	1	1	1	0	1	2	4	1	3	0	2	3	3	0	2	6	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr4:188924640G>A	uc003izh.1	+	3	1087	c.679G>A	c.(679-681)Gtt>Att	p.V227I	ZFP42_uc003izi.1_Missense_Mutation_p.V227I|ZFP42_uc021xvm.1_Missense_Mutation_p.V227I	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN	Homo sapiens zinc finger protein 42 homolog (mouse) (ZFP42), mRNA.	227					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGCGTTCGTTGAGAGCTC	0.502													A	188924640	G	A	188924640	3	1	262	1	0	0	0	0	1	0	0	0	17751	1145	40	1	681	1	ZFP42	4	188924640	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		188924640	2229636	12	18363											
PCDHB12	56124	broad.mit.edu	37	chr5	140590123	140590123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgaggcgctggtgcgCgtgctggtgctggacgccaa	6	6	18	11	5	0	0	0	0	0	0	0	2	0	1	1	4	5	4	1	4	1	0	rs147374257		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:140590123C>T	uc003liz.3	+	0	1833	c.1644C>T	c.(1642-1644)cgC>cgT	p.R548R	PCDHB12_uc011dak.2_Silent_p.R211R	NM_018932	NP_061755	Q9Y5F1	PCDBC_HUMAN	Homo sapiens protocadherin beta 12 (PCDHB12), mRNA.	548	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGGTGCGCGTGCTGGTGC	0.711													T	140590123	C	T	140590123	2	4	262	1	0	0	0	0	0	0	0	1	11613	755	27	1		1	PCDHB12	5	140590123	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		140590123	40325137	13	18364											
GABRA6	2559	broad.mit.edu	37	chr5	161113339	161113339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggctatgacaatcggctgCggccgggatttggaggtaag	10	8	16	7	3	0	1	0	1	0	0	1	3	0	3	1	6	1	3	1	6	4	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr5:161113339C>T	uc003lyu.2	+	1	480	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W		NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.L47M(1)|p.R48L(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAATCGGCTGCGGCCGGGATT	0.483										TCGA Ovarian(5;0.080)			T	161113339	C	T	161113339	3	4	262	1	0	0	0	0	1	0	0	0	6217	759	27	1	148	1	GABRA6	5	161113339	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	20523216	161113339	19801921	14	18365											
MICALL2	79778	broad.mit.edu	37	chr7	1485031	1485031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcctgtggccttgtaggcCcccgagtgcagcgtgcagga	5	9	14	13	2	1	0	0	0	1	0	2	2	1	1	4	3	3	3	4	3	1	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:1485031C>T	uc003skj.4	-	5	822	c.675G>A	c.(673-675)ggG>ggA	p.G225G	MICALL2_uc003ski.4_5'Flank	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN	Homo sapiens MICAL-like 2 (MICALL2), transcript variant 1, mRNA.	225	LIM zinc-binding.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCTTGTAGGCCCCCGAGTGCA	0.692													T	1485031	C	T	1485031	2	4	262	1	0	0	0	0	0	0	0	1	9649	610	22	2		2	MICALL2	7	1485031	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		1485031	157653632	15	18366											
CARD11	84433	broad.mit.edu	37	chr7	2984147	2984147	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttcatcaggaagtgcGtgaggccctcgtggccttcc	5	10	12	14	3	2	1	2	1	0	0	5	2	3	2	4	3	1	1	4	3	1	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:2984147G>C	uc003smv.3	-	4	717	c.383C>G	c.(382-384)aCg>aGg	p.T128R		NM_032415	NP_115791	Q9BXL7	CAR11_HUMAN	Homo sapiens caspase recruitment domain family, member 11 (CARD11), mRNA.	128					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity	p.T121M(3)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		CAGGAAGTGCGTGAGGCCCTC	0.622			Mis		DLBCL								C	2984147	G	C	2984147	3	2	262	1	0	0	0	0	1	0	0	0	2671	1145	40	4	3165	4	CARD11	7	2984147	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	1499116	2984147	156154516	16	18367											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:55233043G>T	uc003tqk.3	+	14	2039	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_uc003tqi.3_Missense_Mutation_p.G598V|EGFR_uc003tqj.3_Missense_Mutation_p.G598V|EGFR_uc022adm.1_Missense_Mutation_p.G598V|EGFR_uc010kzg.2_Missense_Mutation_p.G553V|EGFR_uc022adn.1_Missense_Mutation_p.G553V|EGFR_uc011kco.2_Missense_Mutation_p.G545V|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(31)|p.A597T(1)|p.A597P(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	262	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	52248896	55233043	103905620	17	18368											
PIK3CG	5294	broad.mit.edu	37	chr7	106508432	106508432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggtgcagcggcacccGccctccgaggagtcccaagc	7	4	12	18	3	0	0	0	0	0	0	2	2	2	1	5	3	3	2	5	3	1	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr7:106508432G>A	uc003vdv.4	+	1	511	c.426G>A	c.(424-426)ccG>ccA	p.P142P	PIK3CG_uc003vdu.3_Silent_p.P142P|PIK3CG_uc003vdw.3_Silent_p.P142P	NM_002649	NP_002640	P48736	PK3CG_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, gamma polypeptide (PIK3CG), mRNA.	142					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AGCGGCACCCGCCCTCCGAGG	0.637													A	106508432	G	A	106508432	2	1	262	1	0	0	0	0	0	0	0	1	11993	1074	38	1		1	PIK3CG	7	106508432	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	51275389	106508432	52630231	18	18369											
ADAM2	2515	broad.mit.edu	37	chr8	39613418	39613418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttacatattaattttccGcactgcagattgctataatt	12	18	4	7	1	0	1	0	0	0	1	1	1	1	1	1	0	3	3	1	0	6	11			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr8:39613418G>A	uc003xnj.3	-	15	1701	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	ADAM2_uc003xnk.3_Silent_p.C523C|ADAM2_uc011lck.2_Intron|ADAM2_uc003xnl.3_Intron	NM_001464	NP_001455	Q99965	ADAM2_HUMAN	Homo sapiens ADAM metallopeptidase domain 2 (ADAM2), mRNA.	542	Cys-rich.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding	p.C542R(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		TTAATTTTCCGCACTGCAGAT	0.249													A	39613418	G	A	39613418	2	1	262	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39613418	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		39613418	106750604	19	18370											
LMX1B	4010	broad.mit.edu	37	chr9	129453336	129453336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgtgagccccgacgAgtccgactccggtgaggcct	6	6	13	16	5	0	2	0	2	0	0	3	5	3	2	6	2	2	1	6	2	0	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr9:129453336A>G	uc011maa.2	+	2	555	c.548A>G	c.(547-549)gAg>gGg	p.E183G	LMX1B_uc004bqi.3_Missense_Mutation_p.E183G|LMX1B_uc004bqj.3_Missense_Mutation_p.E183G	NM_001174146	NP_001167617	O60663	LMX1B_HUMAN	Homo sapiens LIM homeobox transcription factor 1, beta (LMX1B), transcript variant 3, mRNA.	160					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						AGCCCCGACGAGTCCGACTCC	0.667									Nail-Patella Syndrome				G	129453336	A	G	129453336	3	3	262	1	0	0	0	0	1	0	0	0	8923	304	11	3	558	3	LMX1B	9	129453336	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08		129453336	11760095	20	18371											
PTEN	5728	broad.mit.edu	37	chr10	89712007	89712007	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctattccaatgttcagtggcGgaacttgcagtaagtgcttg	9	13	11	8	1	1	0	1	0	0	0	2	1	2	1	1	2	3	4	1	2	4	6			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:89712007G>T	uc001kfb.3	+	5	1657	c.625G>T	c.(625-627)Gga>Tga	p.G209*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	209	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G165_K342del(1)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTTCAGTGGCGGAACTTGCAG	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89712007	G	T	89712007	4	4	262	1	0	0	0	0	0	1	0	0	12823	1117	39	4	647	4	PTEN	10	89712007	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		89712007	45822740	21	18372											
SMC3	9126	broad.mit.edu	37	chr10	112350788	112350788	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcagatgaagtcagcacGaagattttaatggagtttaa	15	12	10	4	1	2	3	2	1	0	2	2	6	2	4	0	1	1	2	0	1	4	5			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr10:112350788G>A	uc001kze.3	+	16	1836	c.1710G>A	c.(1708-1710)acG>acA	p.T570T		NM_005445	NP_005436	Q9UQE7	SMC3_HUMAN	Homo sapiens structural maintenance of chromosomes 3 (SMC3), mRNA.	570	Flexible hinge.				cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity	p.T570T(2)|p.T570M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AAGTCAGCACGAAGATTTTAA	0.363													A	112350788	G	A	112350788	2	1	262	1	0	0	0	0	0	0	0	1	14878	1045	37	1		1	SMC3	10	112350788	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	22638781	112350788	23183959	22	18373											
TRIM44	54765	broad.mit.edu	37	chr11	35747531	35747531	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaagaaagttcagaaagtGattgctgatgaggagcagaa	16	10	12	3	0	1	6	1	3	0	3	1	7	1	7	0	1	2	3	0	1	4	4			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:35747531G>A	uc001mwi.2	+	2	1114	c.807G>A	c.(805-807)gtG>gtA	p.V269V		NM_017583	NP_060053	Q96DX7	TRI44_HUMAN	Homo sapiens tripartite motif containing 44 (TRIM44), mRNA.	269						intracellular	protein binding|zinc ion binding			endometrium(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_lung(20;0.0317)|Lung NSC(22;0.0661)|all_epithelial(35;0.115)	all_hematologic(20;0.107)				TTCAGAAAGTGATTGCTGATG	0.423													A	35747531	G	A	35747531	2	1	262	1	0	0	0	0	0	0	0	1	16620	1277	45	2		2	TRIM44	11	35747531	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		35747531	99258985	23	18374											
MS4A14	84689	broad.mit.edu	37	chr11	60183896	60183896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaagaaaatcctcaagacgGcattccttaaaccagcaaac	18	6	6	11	1	1	3	1	0	0	3	3	3	3	3	3	1	3	2	3	1	7	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60183896G>A	uc001npj.3	+	4	2020	c.1455G>A	c.(1453-1455)cgG>cgA	p.R485R	MS4A14_uc001npi.3_Silent_p.R373R|MS4A14_uc001npn.3_Silent_p.R223R|MS4A14_uc001npk.3_Silent_p.R468R|MS4A14_uc001npl.3_Silent_p.R223R|MS4A14_uc001npm.3_Silent_p.R223R	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	485	Gln-rich.					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						CCTCAAGACGGCATTCCTTAA	0.393													A	60183896	G	A	60183896	2	1	262	1	0	0	0	0	0	0	0	1	9934	1190	42	2		2	MS4A14	11	60183896	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	24436365	60183896	74822620	24	18375											
PRPF19	27339	broad.mit.edu	37	chr11	60665709	60665709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatgctagtgatggggcccGagtggccagggaagttggcc	7	7	18	9	2	0	1	0	1	0	0	0	4	0	2	3	5	1	2	3	5	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:60665709G>A	uc001nqf.3	-	13	1382	c.1175C>T	c.(1174-1176)tCg>tTg	p.S392L		NM_014502	NP_055317	Q9UMS4	PRP19_HUMAN	Homo sapiens PRP19/PSO4 pre-mRNA processing factor 19 homolog (S. cerevisiae) (PRPF19), mRNA.	392					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						GATGGGGCCCGAGTGGCCAGG	0.532													A	60665709	G	A	60665709	3	1	262	1	0	0	0	0	1	0	0	0	12650	1059	37	1	351	1	PRPF19	11	60665709	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	481813	60665709	74340807	25	18376											
HEPHL1	341208	broad.mit.edu	37	chr11	93778980	93778980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattcctgggccccatcttGagggccgaagtgggtgatgt	6	10	16	9	1	1	2	0	2	1	0	2	4	2	3	4	4	0	0	4	4	1	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:93778980G>A	uc001pep.2	+	1	469	c.312G>A	c.(310-312)ttG>ttA	p.L104L		NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	104	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity	p.L104L(2)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCCCATCTTGAGGGCCGAAG	0.468													A	93778980	G	A	93778980	2	1	262	1	0	0	0	0	0	0	0	1	7110	1281	45	2		2	HEPHL1	11	93778980	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	33113271	93778980	41227536	26	18377											
OR10G8	219869	broad.mit.edu	37	chr11	123900691	123900691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggtcatgtcctgtgatcGctacctggccatcagttacc	7	11	10	13	1	2	1	2	1	0	0	4	1	3	1	4	2	2	2	4	2	2	2	rs116699538	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr11:123900691G>A	uc001pzp.1	+	0	362	c.362G>A	c.(361-363)cGc>cAc	p.R121H		NM_001004464	NP_001004464	Q8NGN5	O10G8_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily G, member 8 (OR10G8), mRNA.	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TCCTGTGATCGCTACCTGGCC	0.567													A	123900691	G	A	123900691	3	1	262	1	0	0	0	0	1	0	0	0	10979	1087	38	1	364	1	OR10G8	11	123900691	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	30121711	123900691	11105825	27	18378											
DENND5B	160518	broad.mit.edu	37	chr12	31545306	31545306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccattttctccacacaGcaacacggtgaggcttcctc	9	9	8	15	1	1	1	0	1	1	0	4	1	2	1	3	3	2	2	3	3	1	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:31545306G>A	uc001rkh.1	-	20	3617	c.3466C>T	c.(3466-3468)Ctg>Ttg	p.L1156L	DENND5B_uc001rki.1_Silent_p.L1121L	NM_144973	NP_659410	Q6ZUT9	DEN5B_HUMAN	Homo sapiens DENN/MADD domain containing 5B (DENND5B), mRNA.	1121	RUN 2.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TCTCCACACAGCAACACGGTG	0.468													A	31545306	G	A	31545306	2	1	262	1	0	0	0	0	0	0	0	1	4476	962	34	2		2	DENND5B	12	31545306	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		31545306	102306589	28	18379											
OR6C6	283365	broad.mit.edu	37	chr12	55688853	55688853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaagaaatacattggcGtcttgagccggggatccagc	12	7	14	8	2	1	3	0	1	1	2	2	5	2	4	2	4	3	0	2	4	3	3	rs77411445		TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:55688853G>A	uc010sph.2	-	0	164	c.164C>T	c.(163-165)aCg>aTg	p.T55M		NM_001005493	NP_001005493	A6NF89	OR6C6_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 6 (OR6C6), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						ATACATTGGCGTCTTGAGCCG	0.398													A	55688853	G	A	55688853	3	1	262	1	0	0	0	0	1	0	0	0	11270	1145	40	1	782	1	OR6C6	12	55688853	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	24143547	55688853	78163042	29	18380											
AVPR1A	552	broad.mit.edu	37	chr12	63543656	63543656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcacgtaccggtccagaCggacatgggatcccagacag	10	4	13	14	4	0	2	0	0	0	2	2	4	2	4	4	4	1	2	4	4	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr12:63543656C>T	uc001sro.1	-	0	2935	c.961G>A	c.(961-963)Gtc>Atc	p.V321I		NM_000706	NP_000697	P37288	V1AR_HUMAN	Homo sapiens arginine vasopressin receptor 1A (AVPR1A), mRNA.	321					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGGTCCAGACGGACATGGGA	0.532													T	63543656	C	T	63543656	3	4	262	1	0	0	0	0	1	0	0	0	1236	536	19	1	303	1	AVPR1A	12	63543656	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	7854803	63543656	70308239	30	18381											
GPR12	2835	broad.mit.edu	37	chr13	27332980	27332980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacatcactgggcgagcGcgctctctgggcgagactgg	7	7	14	13	4	2	1	1	0	1	1	3	3	2	1	0	3	2	1	0	3	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr13:27332980G>A	uc021rhk.1	-	0	985	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	GPR12_uc010aal.3_Missense_Mutation_p.R329C|GPR12_uc010tdl.2_Missense_Mutation_p.R170C	NM_005288	NP_005279	P47775	GPR12_HUMAN	Homo sapiens G protein-coupled receptor 12 (GPR12), mRNA.	329						integral to plasma membrane		p.R329C(2)		endometrium(7)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(5;5.77e-05)	Breast(139;0.198)		Epithelial(112;9.37e-07)|OV - Ovarian serous cystadenocarcinoma(117;1.16e-06)|all cancers(112;8.31e-06)|GBM - Glioblastoma multiforme(144;0.00121)|Lung(94;0.111)|LUSC - Lung squamous cell carcinoma(192;0.184)		CTGGGCGAGCGCGCTCTCTGG	0.537													A	27332980	G	A	27332980	3	1	262	1	0	0	0	0	1	0	0	0	6689	1087	38	1	23	1	GPR12	13	27332980	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		27332980	87836898	31	18382											
ADCY4	196883	broad.mit.edu	37	chr14	24795366	24795366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctagtccccggggggtaCggctcctgcacagtgagagc	7	7	14	13	2	1	1	0	1	1	1	3	2	3	1	3	4	3	3	3	4	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:24795366C>T	uc001wow.3	-	11	1993	c.1574G>A	c.(1573-1575)cGt>cAt	p.R525H	ADCY4_uc010toh.2_Missense_Mutation_p.R211H|ADCY4_uc001wox.3_Missense_Mutation_p.R525H|ADCY4_uc001woy.3_Missense_Mutation_p.R525H	NM_001198568	NP_001185497	Q8NFM4	ADCY4_HUMAN	Homo sapiens adenylate cyclase 4 (ADCY4), transcript variant 3, mRNA.	525					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding	p.R525C(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CCGGGGGGTACGGCTCCTGCA	0.592													T	24795366	C	T	24795366	3	4	262	1	0	0	0	0	1	0	0	0	296	536	19	1	1715	1	ADCY4	14	24795366	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		24795366	82554174	32	18383											
GALC	2581	broad.mit.edu	37	chr14	88431916	88431916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgggccgtcatcaacccGcatctcccataaggcaactg	9	8	8	16	2	3	0	2	0	1	0	5	0	4	0	4	2	2	2	4	2	3	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:88431916G>A	uc001xvt.3	-	8	1073	c.966C>T	c.(964-966)tgC>tgT	p.C322C	GALC_uc010tvw.1_Non-coding_Transcript|GALC_uc010tvy.2_Silent_p.C299C|GALC_uc010tvx.2_Silent_p.C296C|GALC_uc010tvz.1_Silent_p.C266C|GALC_uc001xvu.2_Silent_p.C322C	NM_000153	NP_000144	P54803	GALC_HUMAN	Homo sapiens galactosylceramidase (GALC), transcript variant 1, mRNA.	322					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATCAACCCGCATCTCCCAT	0.448													A	88431916	G	A	88431916	2	1	262	1	0	0	0	0	0	0	0	1	6255	1079	38	1		1	GALC	14	88431916	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08	63636550	88431916	18917624	33	18384											
AHNAK2	113146	broad.mit.edu	37	chr14	105415138	105415138	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggagtttcacgtccAcctggccagcctggaccttc	6	9	9	17	1	1	0	1	0	0	0	4	2	3	2	7	3	1	1	7	3	0	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr14:105415138A>C	uc010axc.1	-	6	6770	c.6650T>G	c.(6649-6651)gTg>gGg	p.V2217G	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.V2117G	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2217						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTCACGTCCACCTGGCCAGC	0.627													C	105415138	A	C	105415138	3	2	262	1	0	0	0	0	1	0	0	0	415	159	6	5	10741	5	AHNAK2	14	105415138	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	16983222	105415138	1934402	34	18385											
MKRN3	7681	broad.mit.edu	37	chr15	23810982	23810982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcagccggggcccaggCaggtgctgaggcagcaaggg	8	2	20	11	2	0	1	0	1	0	0	0	2	0	1	2	7	3	5	2	7	1	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:23810982C>T	uc001ywh.4	+	0	529	c.53C>T	c.(52-54)gCa>gTa	p.A18V	MKRN3_uc001ywi.3_Missense_Mutation_p.A18V|MKRN3_uc010ayi.1_Missense_Mutation_p.A18V	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	18						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GGGGCCCAGGCAGGTGCTGAG	0.637													T	23810982	C	T	23810982	3	4	262	1	0	0	0	0	1	0	0	0	9683	710	25	2	55	2	MKRN3	15	23810982	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		23810982	78720410	35	18386											
NEO1	4756	broad.mit.edu	37	chr15	73562540	73562540	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgatactacaccgtccgatGgaaaaccaacatcccagcaa	15	5	6	15	3	0	0	0	0	0	0	2	3	2	1	5	1	5	1	5	1	6	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr15:73562540G>A	uc002avm.4	+	16	2876	c.2684G>A	c.(2683-2685)tGg>tAg	p.W895*	NEO1_uc010ukx.2_Nonsense_Mutation_p.W895*|NEO1_uc010uky.2_Nonsense_Mutation_p.W895*|NEO1_uc002avn.4_Nonsense_Mutation_p.W899*|NEO1_uc010ukz.2_Nonsense_Mutation_p.W319*	NM_002499	NP_002490	Q92859	NEO1_HUMAN	Homo sapiens neogenin 1 (NEO1), transcript variant 1, mRNA.	895	Fibronectin type-III 5.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ACCGTCCGATGGAAAACCAAC	0.448													A	73562540	G	A	73562540	4	1	262	1	0	0	0	0	0	1	0	0	10412	1357	47	2	2750	2	NEO1	15	73562540	Nonsense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	49751558	73562540	28968852	36	18387											
NOMO1	23420	broad.mit.edu	37	chr16	14968903	14968903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttctaggtcttccatcGacagtgaacccgccttggtc	6	14	8	13	2	3	1	0	1	3	0	6	2	4	1	3	2	1	0	3	2	2	5			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:14968903G>A	uc002dcv.3	+	18	2131	c.2065G>A	c.(2065-2067)Gac>Aac	p.D689N	Mir_548_uc021tdj.1_5'Flank	NM_014287	NP_055102	Q15155	NOMO1_HUMAN	Homo sapiens NODAL modulator 1 (NOMO1), mRNA.	689						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GTCTTCCATCGACAGTGAACC	0.562													A	14968903	G	A	14968903	3	1	262	1	0	0	0	0	1	0	0	0	10607	1058	37	1	2139	1	NOMO1	16	14968903	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08		14968903	75385850	37	18388											
SCNN1B	6338	broad.mit.edu	37	chr16	23366788	23366788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctggcctgcctattcGgagctgagccctgcaactac	7	10	10	14	1	0	2	0	2	0	0	2	3	1	3	4	2	6	2	4	2	3	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:23366788G>A	uc002dln.3	+	3	930	c.754G>A	c.(754-756)Gga>Aga	p.G252R		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	252					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CTGCCTATTCGGAGCTGAGCC	0.617													A	23366788	G	A	23366788	3	1	262	1	0	0	0	0	1	0	0	0	14021	1117	39	1	764	1	SCNN1B	16	23366788	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	8397885	23366788	66987965	38	18389											
ATP2A1	487	broad.mit.edu	37	chr16	28914740	28914740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgacgaaatcctcaagttcGttgctcggaactacctagag	11	10	9	11	4	1	1	1	0	0	1	5	4	2	2	2	1	3	3	2	1	5	4			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr16:28914740G>A	uc002dro.1	+	20	3143	c.2959G>A	c.(2959-2961)Gtt>Att	p.V987I	NPIPL1_uc010vct.2_Intron|ATP2A1_uc002drn.1_Missense_Mutation_p.V987I|ATP2A1_uc002drp.1_Missense_Mutation_p.V862I	NM_173201	NP_775293	O14983	AT2A1_HUMAN	Homo sapiens ATPase, Ca++ transporting, cardiac muscle, fast twitch 1 (ATP2A1), transcript variant b, mRNA.	987					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CCTCAAGTTCGTTGCTCGGAA	0.627													A	28914740	G	A	28914740	3	1	262	1	0	0	0	0	1	0	0	0	1141	1145	40	1	3041	1	ATP2A1	16	28914740	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	5547952	28914740	61440013	39	18390											
DNAH2	146754	broad.mit.edu	37	chr17	7722376	7722376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaacactgacttggcgCgggaggtaagctcccggccc	9	6	13	13	3	1	2	1	1	0	1	2	3	2	3	2	4	2	2	2	4	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:7722376C>T	uc002giu.1	+	69	10824	c.10810C>T	c.(10810-10812)Cgg>Tgg	p.R3604W	DNAH2_uc010cnm.1_Missense_Mutation_p.R542W	NM_020877	NP_065928	Q9P225	DYH2_HUMAN	Homo sapiens dynein, axonemal, heavy chain 2 (DNAH2), mRNA.	3604					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R3604P(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGACTTGGCGCGGGAGGTAAG	0.607													T	7722376	C	T	7722376	3	4	262	1	0	0	0	0	1	0	0	0	4641	759	27	1	11088	1	DNAH2	17	7722376	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		7722376	73472834	40	18391											
KRT33A	3883	broad.mit.edu	37	chr17	39506774	39506774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgaggttctccagctcCgcgttgtcccgctccagctg	4	10	12	15	4	1	1	0	1	1	0	5	2	4	2	4	2	2	5	4	2	0	2	rs61736449	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr17:39506774C>T	uc002hwk.1	-	0	283	c.246G>A	c.(244-246)gcG>gcA	p.A82A		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	82	Coil 1A.|Rod.			A -> T (in Ref. 3; BAG36784).		intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				TCTCCAGCTCCGCGTTGTCCC	0.602													T	39506774	C	T	39506774	2	4	262	1	0	0	0	0	0	0	0	1	8527	639	23	1		1	KRT33A	17	39506774	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08	31784398	39506774	41688436	41	18392											
ZNF516	9658	broad.mit.edu	37	chr18	74153649	74153649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaccaggacgtactcGcgcctgtccttgtcgaaggc	6	9	12	14	4	1	0	1	0	0	0	4	2	2	1	3	3	1	2	3	3	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr18:74153649G>A	uc021ulp.1	-	2	1680	c.1362C>T	c.(1360-1362)cgC>cgT	p.R454R		NM_014643	NP_055458	Q92618	ZN516_HUMAN	Homo sapiens zinc finger protein 516 (ZNF516), mRNA.	454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GGACGTACTCGCGCCTGTCCT	0.731													A	74153649	G	A	74153649	2	1	262	1	0	0	0	0	0	0	0	1	18061	1074	38	1		1	ZNF516	18	74153649	Silent	SNP	G	TCGA-76-4931-01A-01D-1486-08		74153649	3923599	42	18393											
GRIN3B	116444	broad.mit.edu	37	chr19	1005285	1005285	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctcttcctcaccgtgtaCgagtggcgtagcccctacgg	5	9	12	15	5	2	0	1	0	1	0	3	1	3	0	4	2	3	3	4	2	3	4			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:1005285C>T	uc002lqo.1	+	2	1785	c.1785C>T	c.(1783-1785)taC>taT	p.Y595Y		NM_138690	NP_619635	O60391	NMD3B_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3B (GRIN3B), mRNA.	595					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TCACCGTGTACGAGTGGCGTA	0.652													T	1005285	C	T	1005285	2	4	262	1	0	0	0	0	0	0	0	1	6839	547	19	1		1	GRIN3B	19	1005285	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		1005285	58123698	43	18394											
DENND1C	79958	broad.mit.edu	37	chr19	6472910	6472910	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcatacctgtttgaacAgctgcaggtgcacagcccgc	8	9	11	13	1	1	1	0	1	1	0	1	1	1	1	2	2	6	5	2	2	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:6472910A>C	uc002mfe.3	-	14	1240	c.1148T>G	c.(1147-1149)cTg>cGg	p.L383R	DENND1C_uc002mfb.3_5'UTR|DENND1C_uc002mfc.3_5'UTR|DENND1C_uc002mfd.3_5'UTR|DENND1C_uc010xje.2_Missense_Mutation_p.L339R	NM_024898	NP_079174	Q8IV53	DEN1C_HUMAN	Homo sapiens DENN/MADD domain containing 1C (DENND1C), mRNA.	383	dDENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						CTGTTTGAACAGCTGCAGGTG	0.627													C	6472910	A	C	6472910	3	2	262	1	0	0	0	0	1	0	0	0	4467	188	7	5	1293	5	DENND1C	19	6472910	Missense_Mutation	SNP	A	TCGA-76-4931-01A-01D-1486-08	5467625	6472910	52656073	44	18395											
CD209	30835	broad.mit.edu	37	chr19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccacttctttgcaggCggtgatggagtcgtgccagt	5	10	14	12	2	1	1	0	1	1	0	2	2	1	2	3	4	2	1	3	4	0	2	rs139712001	byFrequency	TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:7809880C>T	uc002mht.2	-	4	914	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_uc010xju.1_Missense_Mutation_p.A122T|CD209_uc010dvp.2_Missense_Mutation_p.A259T|CD209_uc002mhr.2_Missense_Mutation_p.A259T|CD209_uc002mhs.2_Missense_Mutation_p.A213T|CD209_uc002mhu.2_Missense_Mutation_p.A191T|CD209_uc010dvq.2_Missense_Mutation_p.A283T|CD209_uc002mhq.2_Missense_Mutation_p.A283T|CD209_uc002mhv.2_Missense_Mutation_p.A259T|CD209_uc002mhx.2_Missense_Mutation_p.A239T|CD209_uc002mhw.2_Missense_Mutation_p.A147T|CD209_uc010dvr.2_Intron	NM_021155	NP_066978	Q9NNX6	CD209_HUMAN	Homo sapiens CD209 molecule (CD209), transcript variant 1, mRNA.	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(2)|p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													T	7809880	C	T	7809880	3	4	262	1	0	0	0	0	1	0	0	0	3014	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	1336970	7809880	51319103	45	18396											
ZNF761	388561	broad.mit.edu	37	chr19	53959098	53959098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtaatgagtgtggaaagaCctttagccggacatcatccc	11	10	11	9	1	1	2	1	1	0	1	2	4	2	4	3	2	1	1	3	2	3	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr19:53959098C>T	uc010eqp.3	+	6	1795	c.1337C>T	c.(1336-1338)aCc>aTc	p.T446I	ZNF761_uc010ydy.2_Missense_Mutation_p.T392I|ZNF761_uc002qbt.2_Missense_Mutation_p.T392I	NM_001008401	NP_001008401	Q86XN6	ZN761_HUMAN	Homo sapiens zinc finger protein 761 (ZNF761), mRNA.	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TGTGGAAAGACCTTTAGCCGG	0.383													T	53959098	C	T	53959098	3	4	262	1	0	0	0	0	1	0	0	0	18236	507	18	2	1348	2	ZNF761	19	53959098	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	46149218	53959098	5169885	46	18397											
CEP250	11190	broad.mit.edu	37	chr20	34092288	34092288	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgagatccaggaccaggatCtccgataccaggaggatgtg	11	7	14	9	1	1	1	0	1	1	1	3	7	2	5	4	4	1	0	4	4	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr20:34092288C>G	uc021wco.1	+	29	6738	c.6091C>G	c.(6091-6093)Ctc>Gtc	p.L2031V	CEP250_uc010zve.2_Missense_Mutation_p.L1399V	NM_007186	NP_009117	Q9BV73	CP250_HUMAN	Homo sapiens centrosomal protein 250kDa (CEP250), mRNA.	2031	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GGACCAGGATCTCCGATACCA	0.597													G	34092288	C	G	34092288	3	3	262	1	0	0	0	0	1	0	0	0	3282	913	32	4	6197	4	CEP250	20	34092288	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08		34092288	28933232	47	18398											
SUSD2	56241	broad.mit.edu	37	chr22	24579586	24579586	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggacaacggccactcCttccctcgtgcgggcacctg	6	8	10	17	3	1	0	1	0	0	0	4	1	3	1	4	3	2	1	4	3	1	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:24579586C>T	uc002zzn.1	+	2	455	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_019601	NP_062547	Q9UGT4	SUSD2_HUMAN	Homo sapiens sushi domain containing 2 (SUSD2), mRNA.	137					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						ACGGCCACTCCTTCCCTCGTG	0.642													T	24579586	C	T	24579586	2	4	262	1	0	0	0	0	0	0	0	1	15504	668	24	2		2	SUSD2	22	24579586	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		24579586	26724980	48	18399											
CCDC157	550631	broad.mit.edu	37	chr22	30766543	30766543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actcccagaccattgagacgGccctggtgccctgtgacgca	8	7	11	15	2	0	3	0	2	0	2	1	4	1	3	4	2	1	1	4	2	0	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30766543G>A	uc011aku.2	+	4	1309	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	CCDC157_uc011akv.2_Missense_Mutation_p.A217T	NM_001017437	NP_001017437	Q569K6	CC157_HUMAN	Homo sapiens coiled-coil domain containing 157 (CCDC157), mRNA.	217										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						CATTGAGACGGCCCTGGTGCC	0.622													A	30766543	G	A	30766543	3	1	262	1	0	0	0	0	1	0	0	0	2816	1203	42	2	659	2	CCDC157	22	30766543	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	6186957	30766543	20538023	49	18400											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951178	30951178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcgtggcccccgtcgatgCagatggtccgcatgcgctcg	4	7	15	15	7	0	1	0	0	0	1	3	2	1	1	3	3	2	3	3	3	0	0			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chr22:30951178C>T	uc003aig.1	-	3	1174	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y	GAL3ST1_uc003aih.1_Missense_Mutation_p.C345Y|GAL3ST1_uc003aii.1_Missense_Mutation_p.C345Y|GAL3ST1_uc010gvz.1_Missense_Mutation_p.C345Y	NM_004861	NP_004852	Q99999	G3ST1_HUMAN	Homo sapiens galactose-3-O-sulfotransferase 1 (GAL3ST1), mRNA.	345					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						CCCGTCGATGCAGATGGTCCG	0.711													T	30951178	C	T	30951178	3	4	262	1	0	0	0	0	1	0	0	0	6251	710	25	2	241	2	GAL3ST1	22	30951178	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	184635	30951178	20353388	50	18401											
GYG2	8908	broad.mit.edu	37	chrX	2799104	2799104	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctaggtcgacctggcCgtctctgtttcccagatctc	4	13	8	16	2	2	1	0	0	2	1	7	2	4	1	4	2	0	1	4	2	1	3			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:2799104C>T	uc004cqs.1	+	11	1638	c.1356C>T	c.(1354-1356)gcC>gcT	p.A452A	GYG2_uc004cqu.1_Silent_p.A420A|GYG2_uc004cqx.2_Silent_p.A381A|GYG2_uc004cqt.1_Silent_p.A421A|GYG2_uc004cqv.1_Silent_p.A195A|GYG2_uc004cqw.1_Silent_p.A412A|GYG2_uc010ndc.1_Silent_p.A230A	NM_003918	NP_003909	O15488	GLYG2_HUMAN	Homo sapiens glycogenin 2 (GYG2), transcript variant 2, mRNA.	452					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TCGACCTGGCCGTCTCTGTTT	0.542													T	2799104	C	T	2799104	2	4	262	1	0	0	0	0	0	0	0	1	6961	639	23	1		1	GYG2	23	2799104	Silent	SNP	C	TCGA-76-4931-01A-01D-1486-08		2799104	152471456	51	18402											
ASB9	140462	broad.mit.edu	37	chrX	15266989	15266989	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcaggcaggccagctCttcactggctgtcctggcca	7	8	12	14	0	2	1	1	1	1	0	3	1	3	1	3	4	2	4	3	4	0	1			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:15266989C>A	uc004cwl.3	-	5	934	c.637G>T	c.(637-639)Gag>Tag	p.E213*	ASB9_uc004cwm.3_Nonsense_Mutation_p.E203*|ASB9_uc004cwk.3_Nonsense_Mutation_p.E213*|ASB9_uc010ner.3_Nonsense_Mutation_p.E213*|ASB9_uc004cwn.2_Nonsense_Mutation_p.E184*	NM_001031739	NP_001026909	Q96DX5	ASB9_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 9 (ASB9), transcript variant 1, mRNA.	213					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CAGGCCAGCTCTTCACTGGCT	0.567													A	15266989	C	A	15266989	4	1	262	1	0	0	0	0	0	1	0	0	1035	922	32	4	284	4	ASB9	23	15266989	Nonsense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	12467885	15266989	140003571	52	18403											
APEX2	27301	broad.mit.edu	37	chrX	55032975	55032975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgaagaggacccagggCgcaagtggatggacagcttg	10	7	16	8	1	0	2	0	1	0	1	0	5	0	5	1	4	1	3	1	4	2	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:55032975C>T	uc004dtz.3	+	5	740	c.664C>T	c.(664-666)Cgc>Tgc	p.R222C	APEX2_uc011mom.2_Missense_Mutation_p.R51C	NM_014481	NP_055296	Q9UBZ4	APEX2_HUMAN	Homo sapiens APEX nuclease (apurinic/apyrimidinic endonuclease) 2 (APEX2), nuclear gene encoding mitochondrial protein, mRNA.	222					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GGACCCAGGGCGCAAGTGGAT	0.522								Other BER factors					T	55032975	C	T	55032975	3	4	262	1	0	0	0	0	1	0	0	0	772	768	27	1	686	1	APEX2	23	55032975	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	39765986	55032975	100237585	53	18404											
ACRC	93953	broad.mit.edu	37	chrX	70830605	70830605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcagcactggtgagatGtggtacccaaagtggcggcg	9	9	15	8	2	0	1	0	1	0	1	0	2	0	1	1	4	3	3	1	4	3	2			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:70830605G>A	uc004eae.2	+	10	2187	c.1686G>A	c.(1684-1686)atG>atA	p.M562I	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	562						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CTGGTGAGATGTGGTACCCAA	0.502													A	70830605	G	A	70830605	3	1	262	1	0	0	0	0	1	0	0	0	171	1377	48	2	1724	2	ACRC	23	70830605	Missense_Mutation	SNP	G	TCGA-76-4931-01A-01D-1486-08	15797630	70830605	84439955	54	18405											
HCFC1	3054	broad.mit.edu	37	chrX	153236126	153236126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacgtgcagttcgtccaCtattccctcgttgccgccgc	5	11	9	16	5	0	0	0	0	0	0	4	0	2	0	4	0	3	4	4	0	2	5			TCGA-76-4931-01A-01D-1486-08	TCGA-76-4931-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4a27742-ca69-4f54-9bce-ec33d8481fed	e6b4bc27-ebe2-4ee8-bb89-dbb23d77870c	g.chrX:153236126C>G	uc004fjp.3	-	0	694	c.166G>C	c.(166-168)Gtg>Ctg	p.V56L	TMEM187_uc004fjq.2_5'Flank	NM_005334	NP_005325	P51610	HCFC1_HUMAN	Homo sapiens host cell factor C1 (VP16-accessory protein) (HCFC1), mRNA.	56					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGTTCGTCCACTATTCCCTCG	0.657													G	153236126	C	G	153236126	3	3	262	1	0	0	0	0	1	0	0	0	7046	565	20	4	6045	4	HCFC1	23	153236126	Missense_Mutation	SNP	C	TCGA-76-4931-01A-01D-1486-08	82405521	153236126	2034434	55	18406											
MEGF6	1953	broad.mit.edu	37	chr1	3425698	3425698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttcctcatcggccccgAcgtcgtcatcctggaagagt	6	10	9	16	4	3	1	2	0	1	1	7	3	5	2	5	2	0	0	5	2	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:3425698A>G	uc001akl.3	-	11	1696	c.1469T>C	c.(1468-1470)gTc>gCc	p.V490A	MEGF6_uc001akk.3_Missense_Mutation_p.V385A	NM_001409	NP_001400	O75095	MEGF6_HUMAN	Homo sapiens multiple EGF-like-domains 6 (MEGF6), mRNA.	490						extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		ATCGGCCCCGACGTCGTCATC	0.682													G	3425698	A	G	3425698	3	3	263	1	0	0	0	0	1	0	0	0	9537	275	10	3	3260	3	MEGF6	1	3425698	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08		3425698	245824923	1	18407											
SNX7	51375	broad.mit.edu	37	chr1	99203845	99203845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtggaatgtgctaataatgCcctgaaagcagattgggaga	14	9	13	5	0	0	3	0	1	0	2	0	5	0	4	1	2	3	2	1	2	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:99203845C>T	uc010ouc.2	+	7	1230	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	SNX7_uc001dsa.3_Intron|SNX7_uc010oud.2_Missense_Mutation_p.A338V	NM_015976	NP_057060	Q9UNH6	SNX7_HUMAN	Homo sapiens sorting nexin 7 (SNX7), transcript variant 1, mRNA.	329					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GCTAATAATGCCCTGAAAGCA	0.348													T	99203845	C	T	99203845	3	4	263	1	0	0	0	0	1	0	0	0	15001	739	26	2	1208	2	SNX7	1	99203845	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	95778147	99203845	150046776	2	18408											
AMPD2	271	broad.mit.edu	37	chr1	110172108	110172108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccatgttgaaccacctgCgcaggtgcctgcaccaccct	7	8	10	16	1	0	1	0	1	0	0	0	1	0	1	6	2	4	3	6	2	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:110172108C>T	uc009wfh.1	+	14	2562	c.2020C>T	c.(2020-2022)Cgc>Tgc	p.R674C	AMPD2_uc009wfg.1_Non-coding_Transcript|AMPD2_uc001dyb.1_Missense_Mutation_p.R593C|AMPD2_uc001dyc.1_Missense_Mutation_p.R674C|AMPD2_uc010ovr.1_Missense_Mutation_p.R599C|AMPD2_uc001dyd.1_Missense_Mutation_p.R555C|AMPD2_uc001dye.1_5'UTR	NM_004037	NP_004028	Q01433	AMPD2_HUMAN	Homo sapiens adenosine monophosphate deaminase 2 (AMPD2), transcript variant 1, mRNA.	674					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAACCACCTGCGCAGGTGCCT	0.602													T	110172108	C	T	110172108	3	4	263	1	0	0	0	0	1	0	0	0	586	768	27	1	2115	1	AMPD2	1	110172108	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	10968263	110172108	139078513	3	18409											
FLG	2312	broad.mit.edu	37	chr1	152281686	152281686	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagtgtctagagctgtcGgcccgagaggaagcttcatg	8	9	15	9	3	2	2	1	0	1	2	3	5	2	3	1	2	3	2	1	2	2	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:152281686G>A	uc001ezu.1	-	2	5712	c.5676C>T	c.(5674-5676)gcC>gcT	p.A1892A		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1892	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.A1892A(2)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGTCGGCCCGAGAGG	0.572									Ichthyosis				A	152281686	G	A	152281686	2	1	263	1	0	0	0	0	0	0	0	1	5971	1103	39	1		1	FLG	1	152281686	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	42109578	152281686	96968935	4	18410											
LELP1	149018	broad.mit.edu	37	chr1	153177307	153177307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttaaagaagctgctgcaaCgctgtttcgaaaagtgccca	12	10	10	9	2	0	1	0	0	0	1	1	2	0	1	1	0	5	6	1	0	6	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:153177307C>T	uc001fbl.3	+	1	234	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	LELP1_uc021ozv.1_Missense_Mutation_p.R42C	NM_001010857	NP_001010857	Q5T871	LELP1_HUMAN	Homo sapiens late cornified envelope-like proline-rich 1 (LELP1), mRNA.	42	Cys/Pro-rich.							p.R42C(4)		NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(9)|ovary(1)|pancreas(1)|prostate(1)	19	all_lung(78;3.51e-31)|Lung NSC(65;1.34e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCTGCTGCAACGCTGTTTCGA	0.552													T	153177307	C	T	153177307	3	4	263	1	0	0	0	0	1	0	0	0	8777	536	19	1	126	1	LELP1	1	153177307	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	895621	153177307	96073314	5	18411											
NUP210L	91181	broad.mit.edu	37	chr1	154067448	154067448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcattggatccggtagatgTactggttctgttttctctta	6	17	11	7	1	2	1	0	0	2	1	4	2	3	2	1	4	1	5	1	4	3	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:154067448T>C	uc001fdw.3	-	14	2222	c.2150A>G	c.(2149-2151)tAc>tGc	p.Y717C	NUP210L_uc009woq.3_5'UTR|NUP210L_uc010peh.2_Missense_Mutation_p.Y717C	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	717						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCGGTAGATGTACTGGTTCTG	0.398													C	154067448	T	C	154067448	3	2	263	1	0	0	0	0	1	0	0	0	10837	1638	57	3	3620	3	NUP210L	1	154067448	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	890141	154067448	95183173	6	18412											
ANGEL2	90806	broad.mit.edu	37	chr1	213181756	213181756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttgtctcctaggatcttCgttttttctttatcatggct	4	23	6	8	1	4	0	1	0	3	0	6	1	4	1	1	2	0	2	1	2	2	9			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:213181756C>T	uc001hjz.3	-	2	593	c.438G>A	c.(436-438)acG>acA	p.T146T	ANGEL2_uc010pto.2_Silent_p.T20T|ANGEL2_uc010ptp.2_Silent_p.T20T|ANGEL2_uc001hka.3_5'UTR|ANGEL2_uc010ptq.2_Non-coding_Transcript|ANGEL2_uc001hkb.3_Silent_p.T124T	NM_144567	NP_653168	Q5VTE6	ANGE2_HUMAN	Homo sapiens angel homolog 2 (Drosophila) (ANGEL2), mRNA.	146										central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(1)	24				OV - Ovarian serous cystadenocarcinoma(81;0.00446)|all cancers(67;0.0169)|Epithelial(68;0.0921)|GBM - Glioblastoma multiforme(131;0.185)		CTAGGATCTTCGTTTTTTCTT	0.323													T	213181756	C	T	213181756	2	4	263	1	0	0	0	0	0	0	0	1	609	871	31	1		1	ANGEL2	1	213181756	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	59114308	213181756	36068865	7	18413											
OBSCN	84033	broad.mit.edu	37	chr1	228557749	228557749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggctgcccacctcagcGaagacgccaaagacttcatc	11	6	8	16	2	2	2	2	0	0	2	3	3	2	2	4	1	2	1	4	1	2	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:228557749G>A	uc009xez.1	+	90	20118	c.20074G>A	c.(20074-20076)Gaa>Aaa	p.E6692K	OBSCN_uc001hsr.1_Missense_Mutation_p.E1321K	NM_001098623	NP_001092093	Q5VST9	OBSCN_HUMAN	Homo sapiens obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF (OBSCN), transcript variant 2, mRNA.	6692	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.F6692F(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCACCTCAGCGAAGACGCCAA	0.667													A	228557749	G	A	228557749	3	1	263	1	0	0	0	0	1	0	0	0	10888	1059	37	1	21642	1	OBSCN	1	228557749	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	15375993	228557749	20692872	8	18414											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649623	232649623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcccatagaagaatttgCggtaataataggccccaagg	13	10	9	9	1	0	2	0	0	0	2	1	2	1	2	3	3	1	1	3	3	7	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr1:232649623C>T	uc001hvg.3	-	0	1621	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	488					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GAAGAATTTGCGGTAATAATA	0.453													T	232649623	C	T	232649623	3	4	263	1	0	0	0	0	1	0	0	0	14424	768	27	1	3789	1	SIPA1L2	1	232649623	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	4091874	232649623	16600998	9	18415											
MFSD9	84804	broad.mit.edu	37	chr2	103335600	103335600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaacagcacatgggtctttCgcaatggcaggcccttctct	8	10	9	14	1	2	0	0	0	2	0	4	0	2	0	2	3	2	3	2	3	2	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:103335600C>T	uc002tcb.2	-	5	772	c.704G>A	c.(703-705)cGa>cAa	p.R235Q	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R174Q	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	235					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ATGGGTCTTTCGCAATGGCAG	0.567													T	103335600	C	T	103335600	3	4	263	1	0	0	0	0	1	0	0	0	9614	884	31	1	724	1	MFSD9	2	103335600	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		103335600	139863773	10	18416											
SLC5A7	60482	broad.mit.edu	37	chr2	108626880	108626880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaacacctatggggccGtggcaggttatgtttctggc	8	10	13	10	1	1	0	0	0	1	0	1	1	1	0	3	5	2	3	3	5	4	3	rs148535388	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:108626880G>A	uc002tdv.3	+	8	1582	c.1306G>A	c.(1306-1308)Gtg>Atg	p.V436M	SLC5A7_uc010ywm.2_Missense_Mutation_p.V189M|SLC5A7_uc010fjj.3_Missense_Mutation_p.V436M|SLC5A7_uc010ywn.2_Missense_Mutation_p.V323M	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	436					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	CTATGGGGCCGTGGCAGGTTA	0.488													A	108626880	G	A	108626880	3	1	263	1	0	0	0	0	1	0	0	0	14764	1145	40	1	1336	1	SLC5A7	2	108626880	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	5291280	108626880	134572493	11	18417											
ZRANB3	84083	broad.mit.edu	37	chr2	135958008	135958008	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttagcttgtctggcagtTctctaaaagttaaaaaatat	13	15	6	7	0	2	0	0	0	2	0	4	0	3	0	1	1	1	4	1	1	7	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:135958008T>C	uc002tum.3	-	20	3261	c.3144A>G	c.(3142-3144)agA>agG	p.R1048R	ZRANB3_uc002tuk.3_Silent_p.R591R|ZRANB3_uc002tul.3_Silent_p.R1046R	NM_032143	NP_115519	Q5FWF4	ZRAB3_HUMAN	Homo sapiens zinc finger, RAN-binding domain containing 3 (ZRANB3), mRNA.	1048						intracellular	ATP binding|DNA binding|endonuclease activity|helicase activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(1)	20				BRCA - Breast invasive adenocarcinoma(221;0.135)		GTCTGGCAGTTCTCTAAAAGT	0.363													C	135958008	T	C	135958008	2	2	263	1	0	0	0	0	0	0	0	1	18323	1780	62	3		3	ZRANB3	2	135958008	Silent	SNP	T	TCGA-76-4932-01A-01D-1486-08	27331128	135958008	107241365	12	18418											
CWC22	57703	broad.mit.edu	37	chr2	180810270	180810270	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccaatttgaaccacttgaAttttgatctctgtgtttttc	8	19	5	9	0	1	3	0	3	1	0	4	3	2	3	2	0	1	1	2	0	3	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:180810270A>G	uc010frh.1	-	19	2613	c.2313T>C	c.(2311-2313)aaT>aaC	p.N771N	CWC22_uc002uno.2_Silent_p.N293N|CWC22_uc002unp.2_Silent_p.N771N	NM_020943	NP_065994	Q9HCG8	CWC22_HUMAN	Homo sapiens CWC22 spliceosome-associated protein homolog (S. cerevisiae) (CWC22), mRNA.	771						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						AACCACTTGAATTTTGATCTC	0.378													G	180810270	A	G	180810270	2	3	263	1	0	0	0	0	0	0	0	1	4101	98	4	3		3	CWC22	2	180810270	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08	44852262	180810270	62389103	13	18419											
FAM134A	79137	broad.mit.edu	37	chr2	220046109	220046109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcgtcaggggaagaatgCacccccaggaggtgatgagc	12	4	16	9	1	1	4	1	2	0	2	1	6	1	6	2	4	3	1	2	4	2	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:220046109C>T	uc002vjw.4	+	6	939	c.803C>T	c.(802-804)gCa>gTa	p.A268V	FAM134A_uc010fwc.3_Missense_Mutation_p.A61V|FAM134A_uc002vjx.3_Missense_Mutation_p.A61V	NM_024293	NP_077269	Q8NC44	F134A_HUMAN	Homo sapiens family with sequence similarity 134, member A (FAM134A), mRNA.	268						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAAGAATGCACCCCCAGGA	0.547													T	220046109	C	T	220046109	3	4	263	1	0	0	0	0	1	0	0	0	5490	710	25	2	829	2	FAM134A	2	220046109	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	39235839	220046109	23153264	14	18420											
PAX3	5077	broad.mit.edu	37	chr2	223161799	223161799	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacacgcgcagctggcgCgagatgacgcagggccggat	8	4	18	11	6	0	2	0	1	0	1	0	5	0	4	1	4	1	3	1	4	0	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:223161799C>T	uc010fwo.3	-	1	600	c.219G>A	c.(217-219)tcG>tcA	p.S73S	PAX3_uc002vmt.2_Silent_p.S73S|PAX3_uc002vmy.2_Silent_p.S73S|PAX3_uc002vmv.2_Silent_p.S73S|PAX3_uc002vmw.2_Silent_p.S73S|PAX3_uc002vmx.2_Silent_p.S73S|PAX3_uc002vmz.2_Silent_p.S73S|PAX3_uc002vna.2_Silent_p.S73S|CCDC140_uc002vnb.1_5'Flank	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	73	Paired.		S -> L (in WS1).		apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGCGCGAGATGACGC	0.647			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						T	223161799	C	T	223161799	2	4	263	1	0	0	0	0	0	0	0	1	11556	755	27	1		1	PAX3	2	223161799	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	3115690	223161799	20037574	15	18421											
COL4A4	1286	broad.mit.edu	37	chr2	227922184	227922184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggatacccagggagtcccGgttgccctggtatccctgga	6	9	13	13	1	0	0	0	0	0	0	2	3	2	3	4	5	2	2	4	5	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr2:227922184G>A	uc021vxr.1	-	27	2617	c.2516C>T	c.(2515-2517)cCg>cTg	p.P839L	COL4A4_uc021vxs.1_Missense_Mutation_p.P839L	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	839	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		AGGGAGTCCCGGTTGCCCTGG	0.537													A	227922184	G	A	227922184	3	1	263	1	0	0	0	0	1	0	0	0	3724	1116	39	1	2636	1	COL4A4	2	227922184	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	4760385	227922184	15277189	16	18422											
CNTN4	152330	broad.mit.edu	37	chr3	2787313	2787313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaacccaagatgctggaaCgtaccagtgcacagcgacaa	16	5	9	11	2	0	1	0	0	0	1	0	3	0	2	2	1	6	3	2	1	6	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:2787313C>T	uc003bpc.3	+	5	629	c.290C>T	c.(289-291)aCg>aTg	p.T97M	CNTN4_uc003bpb.1_5'UTR|CNTN4_uc021wsg.1_Missense_Mutation_p.T97M|CNTN4_uc003bpd.1_Missense_Mutation_p.T97M	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	97	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E96K(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATGCTGGAACGTACCAGTGC	0.408													T	2787313	C	T	2787313	3	4	263	1	0	0	0	0	1	0	0	0	3674	536	19	1	300	1	CNTN4	3	2787313	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		2787313	195235117	17	18423											
CHST13	166012	broad.mit.edu	37	chr3	126260762	126260762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaccaactggaagcgcGtgctgctggcgctgagcggc	6	6	15	14	4	0	1	0	1	0	0	0	2	0	2	2	3	6	4	2	3	2	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:126260762G>A	uc003eja.3	+	2	412	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_152889	NP_690849	Q8NET6	CHSTD_HUMAN	Homo sapiens carbohydrate (chondroitin 4) sulfotransferase 13 (CHST13), mRNA.	123					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		CTGGAAGCGCGTGCTGCTGGC	0.716													A	126260762	G	A	126260762	3	1	263	1	0	0	0	0	1	0	0	0	3431	1145	40	1	377	1	CHST13	3	126260762	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	123473449	126260762	71761668	18	18424											
ECE2	9718	broad.mit.edu	37	chr3	184009860	184009860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcccgcaggtgtggtgctCggtccgcacaccagagagct	6	7	15	13	3	0	1	0	0	0	1	2	2	1	1	3	4	2	4	3	4	0	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr3:184009860C>T	uc003fni.4	+	18	2524	c.2486C>T	c.(2485-2487)tCg>tTg	p.S829L	ECE2_uc003fnl.4_Missense_Mutation_p.S757L|ECE2_uc003fnm.4_Missense_Mutation_p.S711L|ECE2_uc003fnk.4_Missense_Mutation_p.S682L	NM_014693	NP_055508	O60344	ECE2_HUMAN	Homo sapiens endothelin converting enzyme 2 (ECE2), transcript variant 1, mRNA.	829	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GTGTGGTGCTCGGTCCGCACA	0.647													T	184009860	C	T	184009860	3	4	263	1	0	0	0	0	1	0	0	0	4929	893	31	1	3124	1	ECE2	3	184009860	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	57749098	184009860	14012570	19	18425											
PDE6B	5158	broad.mit.edu	37	chr4	619767	619767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgtgcagccggacagcGtcctggaggactgcctggtg	6	7	16	12	3	1	0	1	0	0	0	2	3	2	3	3	4	5	1	3	4	0	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:619767G>A	uc003gap.3	+	0	405	c.352G>A	c.(352-354)Gtc>Atc	p.V118I	PDE6B_uc003gao.4_Missense_Mutation_p.V118I	NM_000283	NP_001138764	P35913	PDE6B_HUMAN	Homo sapiens phosphodiesterase 6B, cGMP-specific, rod, beta (PDE6B), transcript variant 1, mRNA.	118	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GCCGGACAGCGTCCTGGAGGA	0.657													A	619767	G	A	619767	3	1	263	1	0	0	0	0	1	0	0	0	11722	1145	40	1	354	1	PDE6B	4	619767	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		619767	190534509	20	18426											
AASDH	132949	broad.mit.edu	37	chr4	57237647	57237647	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcactctatgatgggaaaaGagaacgctggctaattttga	13	11	11	6	1	2	3	1	2	1	1	2	5	2	4	0	2	1	2	0	2	5	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:57237647G>C	uc003hbn.3	-	4	984	c.831C>G	c.(829-831)ctC>ctG	p.L277L	AASDH_uc010ihb.3_5'UTR|AASDH_uc003hbo.3_Silent_p.L177L|AASDH_uc011caa.2_Silent_p.L124L|AASDH_uc011cab.2_5'UTR|AASDH_uc010ihc.3_Silent_p.L277L|AASDH_uc003hbp.3_Silent_p.L277L	NM_181806	NP_861522	Q4L235	ACSF4_HUMAN	Homo sapiens aminoadipate-semialdehyde dehydrogenase (AASDH), mRNA.	277					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				GATGGGAAAAGAGAACGCTGG	0.353													C	57237647	G	C	57237647	2	2	263	1	0	0	0	0	0	0	0	1	22	929	33	4		4	AASDH	4	57237647	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	56617880	57237647	133916629	21	18427											
FRG1	2483	broad.mit.edu	37	chr4	190876274	190876274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgttcagatgcaattggaCcaagagaacaatgggaacca	15	6	12	8	1	1	2	1	0	0	2	1	5	1	4	2	3	3	2	2	3	5	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr4:190876274C>A	uc003izs.3	+	4	591	c.400C>A	c.(400-402)Cca>Aca	p.P134T		NM_004477	NP_004468	Q14331	FRG1_HUMAN	Homo sapiens FSHD region gene 1 (FRG1), mRNA.	134					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TGCAATTGGACCAAGAGAACA	0.358													A	190876274	C	A	190876274	3	1	263	1	0	0	0	0	1	0	0	0	6098	507	18	4	418	4	FRG1	4	190876274	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	133638627	190876274	278002	22	18428											
PRDM9	56979	broad.mit.edu	37	chr5	23527430	23527430	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accagaggacacacacagggGagaagccctatgtctgcagg	13	4	13	11	0	1	2	0	0	1	2	1	4	1	3	2	4	2	1	2	4	2	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:23527430G>T	uc003jgo.3	+	10	2415	c.2233G>T	c.(2233-2235)Gag>Tag	p.E745*		NM_020227	NP_064612	Q9NQV7	PRDM9_HUMAN	Homo sapiens PR domain containing 9 (PRDM9), mRNA.	745					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						ACACACAGGGGAGAAGCCCTA	0.582										HNSCC(3;0.000094)			T	23527430	G	T	23527430	4	4	263	1	0	0	0	0	0	1	0	0	12549	1175	41	4	2271	4	PRDM9	5	23527430	Nonsense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		23527430	157387830	23	18429											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728680	118728680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacacccaaaacaagaaggaGgcagagaagatcatcaagaa	21	3	9	8	0	2	4	2	0	0	4	2	6	2	5	1	2	2	1	1	2	8	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:118728680G>T	uc003ksi.3	+	1	391	c.201G>T	c.(199-201)gaG>gaT	p.E67D	TNFAIP8_uc003ksf.1_Intron|TNFAIP8_uc003ksg.3_Missense_Mutation_p.E57D|TNFAIP8_uc011cwf.2_Missense_Mutation_p.E61D	NM_014350	NP_055165	O95379	TFIP8_HUMAN	Homo sapiens tumor necrosis factor, alpha-induced protein 8 (TNFAIP8), transcript variant 1, mRNA.	67					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		ACAAGAAGGAGGCAGAGAAGA	0.443													T	118728680	G	T	118728680	3	4	263	1	0	0	0	0	1	0	0	0	16376	991	35	4	212	4	TNFAIP8	5	118728680	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	95201250	118728680	62186580	24	18430											
PCDHAC2	56147	broad.mit.edu	37	chr5	140167119	140167119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggacagcgccctggatcGcgagagcctgtcggtctatg	6	9	15	11	4	1	1	0	0	1	1	3	4	1	3	2	3	2	1	2	3	1	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140167119G>A	uc003lhb.2	+	0	1244	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	PCDHAC2_uc003lha.2_Missense_Mutation_p.R415H|PCDHAC2_uc003lgz.3_Missense_Mutation_p.R415H	NM_018900	NP_061723	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 1 (PCDHA1), transcript variant 1, mRNA.	429	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCCTGGATCGCGAGAGCCTG	0.637													A	140167119	G	A	140167119	3	1	263	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140167119	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	21438439	140167119	40748141	25	18431											
PCDHGC5	56113	broad.mit.edu	37	chr5	140719024	140719024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgcgcatgatgcagacgtAggtgagaacgcccttcagaa	13	7	12	9	3	1	4	1	2	0	3	1	5	1	4	1	1	3	3	1	1	4	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr5:140719024A>G	uc003ljk.2	+	0	671	c.486A>G	c.(484-486)gtA>gtG	p.V162V	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc011dao.2_Silent_p.V162V	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	162	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCAGACGTAGGTGAGAACG	0.522													G	140719024	A	G	140719024	2	3	263	1	0	0	0	0	0	0	0	1	11647	407	15	3		3	PCDHGC5	5	140719024	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08	551905	140719024	40196236	26	18432											
DEFB110	245913	broad.mit.edu	37	chr6	49976857	49976857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttccagagtttatacGcagcactgacttctccattt	8	17	5	11	1	2	2	0	1	2	1	4	2	3	2	2	0	2	3	2	0	2	8			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:49976857G>A	uc011dwr.2	-	1	229	c.183C>T	c.(181-183)tgC>tgT	p.C61C		NM_001037728	NP_001032817	Q30KQ9	DB110_HUMAN	Homo sapiens defensin, beta 110 locus (DEFB110), transcript variant 2, mRNA.	64					defense response to bacterium	extracellular region		p.C60C(1)		endometrium(1)|lung(1)|ovary(1)	3	Lung NSC(77;0.042)					GAGTTTATACGCAGCACTGAC	0.343													A	49976857	G	A	49976857	2	1	263	1	0	0	0	0	0	0	0	1	4438	1079	38	1		1	DEFB110	6	49976857	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08		49976857	121138210	27	18433											
KIAA1244	57221	broad.mit.edu	37	chr6	138599742	138599742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcggccgaccctggcGccaggcgtgatggtgagtgt	7	6	18	10	4	0	2	0	2	0	0	0	4	0	3	3	5	1	0	3	5	1	0	rs111857517	by1000genomes	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr6:138599742G>A	uc003qhu.3	+	12	2454	c.2283G>A	c.(2281-2283)gcG>gcA	p.A761A		NM_020340	NP_065073	Q5TH69	BIG3_HUMAN	Homo sapiens KIAA1244 (KIAA1244), mRNA.	761	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CGACCCTGGCGCCAGGCGTGA	0.612													A	138599742	G	A	138599742	2	1	263	1	0	0	0	0	0	0	0	1	8275	1074	38	1		1	KIAA1244	6	138599742	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	88622885	138599742	32515325	28	18434											
IGFBP3	3486	broad.mit.edu	37	chr7	45956872	45956872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatctgtgctctgagactcGtagtcaactttgtagcgctg	7	14	11	9	2	3	1	1	1	2	1	4	2	3	1	0	0	3	5	0	0	4	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:45956872G>A	uc003tnr.3	-	1	720	c.588C>T	c.(586-588)taC>taT	p.Y196Y	IGFBP3_uc003tnq.3_Non-coding_Transcript|IGFBP3_uc003tns.3_Silent_p.Y190Y|IGFBP3_uc003tnt.3_Silent_p.Y93Y	NM_001013398	NP_001013416	P17936	IBP3_HUMAN	Homo sapiens insulin-like growth factor binding protein 3 (IGFBP3), transcript variant 1, mRNA.	190	Ser/Thr-rich.				negative regulation of protein phosphorylation|negative regulation of signal transduction|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of apoptosis|positive regulation of myoblast differentiation|protein phosphorylation|regulation of cell growth	nucleus	insulin-like growth factor I binding|metal ion binding|protein tyrosine phosphatase activator activity			large_intestine(6)|lung(7)|pancreas(1)|prostate(3)	17					Mecasermin(DB01277)	TCTGAGACTCGTAGTCAACTT	0.502											OREG0018049	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	45956872	G	A	45956872	2	1	263	1	0	0	0	0	0	0	0	1	7638	1140	40	1		1	IGFBP3	7	45956872	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08		45956872	113181791	29	18435											
TFPI2	7980	broad.mit.edu	37	chr7	93519456	93519456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagggcacttactttctatCctccagcaagcatcgtcgca	9	10	8	14	2	1	0	0	0	1	0	5	0	3	0	2	1	3	5	2	1	3	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:93519456C>T	uc003umy.1	-	1	339	c.264G>A	c.(262-264)agG>agA	p.R88R	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.R88R|TFPI2_uc003una.1_Silent_p.R77R	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	88					blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity	p.R88K(1)		endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			TACTTTCTATCCTCCAGCAAG	0.617													T	93519456	C	T	93519456	2	4	263	1	0	0	0	0	0	0	0	1	15909	854	30	2		2	TFPI2	7	93519456	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	47562584	93519456	65619207	30	18436											
PEG10	23089	broad.mit.edu	37	chr7	94293373	94293373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggcgagaggttgccaaaCgcaagatcagacgcctgcgc	12	4	14	11	4	1	4	1	0	0	4	1	5	1	4	2	2	3	2	2	2	2	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:94293373C>T	uc003uno.3	+	1	984	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	PEG10_uc011kie.2_Missense_Mutation_p.R245C|PEG10_uc022ahn.1_Missense_Mutation_p.R169C	NM_015068	NP_055883	Q86TG7	PEG10_HUMAN	Homo sapiens paternally expressed 10 (PEG10), transcript variant 1, mRNA.	169	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GGTTGCCAAACGCAAGATCAG	0.537													T	94293373	C	T	94293373	3	4	263	1	0	0	0	0	1	0	0	0	11795	536	19	1	739	1	PEG10	7	94293373	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	773917	94293373	64845290	31	18437											
ZYX	7791	broad.mit.edu	37	chr7	143080252	143080252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtcctggagccccaggtgGatctgggtcacaaccaaatc	10	7	11	13	0	2	0	1	0	1	0	4	2	3	2	4	4	2	0	4	4	2	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143080252G>A	uc003wcx.3	+	4	1018	c.860G>A	c.(859-861)gGa>gAa	p.G287E	ZYX_uc011ktd.2_Missense_Mutation_p.G130E|ZYX_uc003wcw.3_Missense_Mutation_p.G287E|ZYX_uc011kte.2_Missense_Mutation_p.G256E|ZYX_uc011ktf.2_Missense_Mutation_p.G130E	NM_003461	NP_003452	Q15942	ZYX_HUMAN	Homo sapiens zyxin (ZYX), transcript variant 1, mRNA.	287					cell adhesion|cell-cell signaling|interspecies interaction between organisms|signal transduction	cell-cell adherens junction|cytoplasm|focal adhesion|integral to plasma membrane|nucleus|stress fiber	protein binding|zinc ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					GCCCCAGGTGGATCTGGGTCA	0.577													A	143080252	G	A	143080252	3	1	263	1	0	0	0	0	1	0	0	0	18351	1174	41	2	874	2	ZYX	7	143080252	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	48786879	143080252	16058411	32	18438											
EPHA1	2041	broad.mit.edu	37	chr7	143095154	143095154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctagaaccatctggtaccGttcttcatcctgtgggttgg	6	15	10	10	1	4	1	1	0	3	1	5	1	5	1	3	3	2	3	3	3	3	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:143095154G>A	uc003wcz.3	-	7	1561	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W		NM_005232	NP_005223	P21709	EPHA1_HUMAN	Homo sapiens EPH receptor A1 (EPHA1), mRNA.	492	Fibronectin type-III 2.		R -> Q (in dbSNP:rs11768549).			integral to plasma membrane	ATP binding|ephrin receptor activity	p.R492W(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				ATCTGGTACCGTTCTTCATCC	0.572													A	143095154	G	A	143095154	3	1	263	1	0	0	0	0	1	0	0	0	5206	1144	40	1	1500	1	EPHA1	7	143095154	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	14902	143095154	16043509	33	18439											
ASB10	136371	broad.mit.edu	37	chr7	150878355	150878355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcggtgatggactggcagcGgacgtcacaggcagccagca	10	5	15	11	3	1	1	1	1	0	0	2	3	1	3	1	5	3	3	1	5	0	0			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr7:150878355G>A	uc003wjm.1	-	2	1036	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	ASB10_uc003wjl.1_Missense_Mutation_p.R259C|ASB10_uc003wjn.1_Missense_Mutation_p.R244C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	259					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACTGGCAGCGGACGTCACAG	0.647													A	150878355	G	A	150878355	3	1	263	1	0	0	0	0	1	0	0	0	1019	1116	39	1	640	1	ASB10	7	150878355	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	7783201	150878355	8260308	34	18440											
DOCK5	80005	broad.mit.edu	37	chr8	25250313	25250313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccttcttgccaccagaCgatgtggattgaacggacca	9	12	9	11	2	1	2	0	1	1	1	2	5	2	4	4	2	2	0	4	2	1	5			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:25250313C>T	uc003xeg.3	+	44	4578	c.4441_splice	c.e44-1	p.T1481_splice	DOCK5_uc003xek.3_Intron|DOCK5_uc003xei.3_Splice_Site_p.T1051_splice|DOCK5_uc003xej.3_Splice_Site	NM_024940	NP_079216	Q9H7D0	DOCK5_HUMAN	Homo sapiens dedicator of cytokinesis 5 (DOCK5), mRNA.	1481	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGCCACCAGACGATGTGGATT	0.428													T	25250313	C	T	25250313	3	4	263	1	0	0	0	0	1	0	0	0	4729	550	19	1	4616	1	DOCK5	8	25250313	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		25250313	121113709	35	18441											
CPSF1	29894	broad.mit.edu	37	chr8	145622709	145622709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaccacctacctccatgGtgccattctcccgcaccagc	7	7	8	19	1	1	0	0	0	1	0	3	0	2	0	7	2	3	2	7	2	1	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr8:145622709G>A	uc003zcj.3	-	21	2453	c.2378C>T	c.(2377-2379)aCc>aTc	p.T793I		NM_013291	NP_037423	Q10570	CPSF1_HUMAN	Homo sapiens cleavage and polyadenylation specific factor 1, 160kDa (CPSF1), mRNA.	793					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			TACCTCCATGGTGCCATTCTC	0.672													A	145622709	G	A	145622709	3	1	263	1	0	0	0	0	1	0	0	0	3855	1261	44	2	2021	2	CPSF1	8	145622709	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	120372396	145622709	741313	36	18442											
NPR2	4882	broad.mit.edu	37	chr9	35808664	35808664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaccagctgaggctacgCataggggtccatactggtaa	11	8	12	10	1	0	2	0	2	0	0	1	2	1	2	2	4	3	4	2	4	4	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr9:35808664C>T	uc003zyd.3	+	18	2871	c.2871C>T	c.(2869-2871)cgC>cgT	p.R957R	NPR2_uc010mlb.3_Silent_p.R933R|SPAG8_uc003zye.3_Intron	NM_003995	NP_003986	P20594	ANPRB_HUMAN	Homo sapiens natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B) (NPR2), mRNA.	957	Guanylate cyclase.		R -> C (in AMDM).		intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TGAGGCTACGCATAGGGGTCC	0.542													T	35808664	C	T	35808664	2	4	263	1	0	0	0	0	0	0	0	1	10671	697	25	2		2	NPR2	9	35808664	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08		35808664	105404767	37	18443											
OR4C16	219428	broad.mit.edu	37	chr11	55340484	55340484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatacagaagtgaaaaGtgccatgaggaagctttgga	17	7	13	4	0	0	4	0	2	0	2	0	7	0	6	1	2	3	1	1	2	7	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:55340484G>A	uc010rih.2	+	0	881	c.881G>A	c.(880-882)aGt>aAt	p.S294N		NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 16 (OR4C16), mRNA.	294					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)				GAAGTGAAAAGTGCCATGAGG	0.368													A	55340484	G	A	55340484	3	1	263	1	0	0	0	0	1	0	0	0	11125	1029	36	2	883	2	OR4C16	11	55340484	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		55340484	79666032	38	18444											
OR8H1	219469	broad.mit.edu	37	chr11	56058035	56058035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacgaactacatttgagtcGcagaaatgcagtctgctcat	12	11	9	9	2	2	3	1	2	1	1	3	4	2	3	0	0	4	3	0	0	3	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:56058035G>A	uc010rje.2	-	0	504	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001005199	NP_001005199	Q8NGG4	OR8H1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily H, member 1 (OR8H1), mRNA.	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					CATTTGAGTCGCAGAAATGCA	0.433													A	56058035	G	A	56058035	2	1	263	1	0	0	0	0	0	0	0	1	11313	1079	38	1		1	OR8H1	11	56058035	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	717551	56058035	78948481	39	18445											
OSBP	5007	broad.mit.edu	37	chr11	59368009	59368009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcttttccaatgcagttcTtcatgatgctccataaattg	9	17	6	9	0	3	1	1	1	2	0	5	1	5	1	2	0	2	4	2	0	3	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:59368009T>C	uc001noc.1	-	6	1751	c.1271A>G	c.(1270-1272)aAg>aGg	p.K424R	OSBP_uc009ymr.1_Non-coding_Transcript	NM_002556	NP_002547	P22059	OSBP1_HUMAN	Homo sapiens oxysterol binding protein (OSBP), mRNA.	424	Sterol binding (By similarity).				lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		AATGCAGTTCTTCATGATGCT	0.468													C	59368009	T	C	59368009	3	2	263	1	0	0	0	0	1	0	0	0	11349	1609	56	3	1184	3	OSBP	11	59368009	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	3309974	59368009	75638507	40	18446											
ACTN3	89	broad.mit.edu	37	chr11	66328735	66328737	+	In_Frame_Del	DEL	AGG	AGG	-																															cagctgtgaccagacactgcAggaggagctggcacggcagc																										TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:66328735_66328737delAGG	uc021qma.1	+	5	665_667	c.152_154delAGG	c.(151-156)caggag>cag	p.E53del	ACTN3_uc021qlz.1_Non-coding_Transcript			Q08043	ACTN3_HUMAN	Homo sapiens actinin, alpha 3 (ACTN3), mRNA.	635	Actin-binding.|CH 1.				focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CAGACACTGCAGGAGGAGCTGGC	0.621													-	66328737	AGG	-	66328735	7	5	263	1	0	1	0	1	0	0	0	0	206	188	7	0	1960	0	ACTN3	11	66328735	In_Frame_Del	DEL	AGG	TCGA-76-4932-01A-01D-1486-08	6960726	66328735	68677781	41	18447											
NAALAD2	10003	broad.mit.edu	37	chr11	89882229	89882229	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggctatgagaatgttacaaAtattgtgccaccatataatg	14	13	8	6	0	0	1	0	1	0	1	0	2	0	1	2	1	2	2	2	1	7	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr11:89882229A>G	uc001pdf.4	+	3	546	c.437A>G	c.(436-438)aAt>aGt	p.N146S	NAALAD2_uc009yvx.3_Missense_Mutation_p.N146S|NAALAD2_uc009yvy.3_Missense_Mutation_p.N146S|NAALAD2_uc001pdd.2_Missense_Mutation_p.N146S|NAALAD2_uc001pde.3_Missense_Mutation_p.N146S	NM_005467	NP_005458	Q9Y3Q0	NALD2_HUMAN	Homo sapiens N-acetylated alpha-linked acidic dipeptidase 2 (NAALAD2), mRNA.	146					proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				AATGTTACAAATATTGTGCCA	0.328													G	89882229	A	G	89882229	3	3	263	1	0	0	0	0	1	0	0	0	10204	101	4	3	451	3	NAALAD2	11	89882229	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	23553494	89882229	45124287	42	18448											
CLSTN3	9746	broad.mit.edu	37	chr12	7310162	7310162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcgtcctgggcctggtgCgcatccattcccttcaccgc	3	11	11	16	3	1	0	1	0	0	0	5	0	4	0	5	3	1	1	5	3	0	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:7310162C>T	uc001qss.3	+	15	3179	c.2641C>T	c.(2641-2643)Cgc>Tgc	p.R881C	CLSTN3_uc001qsr.3_Missense_Mutation_p.R869C|CLSTN3_uc001qst.3_Missense_Mutation_p.R277C	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN	Homo sapiens calsyntenin 3 (CLSTN3), mRNA.	869					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						GGGCCTGGTGCGCATCCATTC	0.657													T	7310162	C	T	7310162	3	4	263	1	0	0	0	0	1	0	0	0	3594	768	27	1	2671	1	CLSTN3	12	7310162	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		7310162	126541733	43	18449											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841316	27841316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggacttggcagaatatgCgcccaatctcagaggcagtg	10	8	13	10	2	1	2	1	0	1	2	2	3	1	3	1	3	1	2	1	3	3	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:27841316C>T	uc001ric.2	+	24	2851	c.2474C>T	c.(2473-2475)gCg>gTg	p.A825V	PPFIBP1_uc010sjr.1_Missense_Mutation_p.A656V|PPFIBP1_uc001rib.2_Missense_Mutation_p.A819V|PPFIBP1_uc001ria.3_Missense_Mutation_p.A794V|PPFIBP1_uc001rid.2_Missense_Mutation_p.A672V|PPFIBP1_uc001rif.2_Missense_Mutation_p.A332V|TRNA_Lys_uc021qwh.1_5'Flank	NM_177444	NP_803193	Q86W92	LIPB1_HUMAN	Homo sapiens PTPRF interacting protein, binding protein 1 (liprin beta 1) (PPFIBP1), transcript variant 2, mRNA.	825	SAM 3.				cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GCAGAATATGCGCCCAATCTC	0.473													T	27841316	C	T	27841316	3	4	263	1	0	0	0	0	1	0	0	0	12390	768	27	1	2592	1	PPFIBP1	12	27841316	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	20531154	27841316	106010579	44	18450											
SLC38A4	55089	broad.mit.edu	37	chr12	47163175	47163175	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtatccagctgaagggtcGtttgggaaataacagtgtga	11	11	13	6	2	0	2	0	2	0	0	3	3	1	3	1	2	2	3	1	2	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:47163175G>A	uc001rpi.2	-	14	1735	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	SLC38A4_uc001rpj.2_Nonsense_Mutation_p.R446*	NM_018018	NP_060488	Q969I6	S38A4_HUMAN	Homo sapiens solute carrier family 38, member 4 (SLC38A4), transcript variant 1, mRNA.	446					cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					CTGAAGGGTCGTTTGGGAAAT	0.363													A	47163175	G	A	47163175	4	1	263	1	0	0	0	0	0	1	0	0	14700	1153	40	1	319	1	SLC38A4	12	47163175	Nonsense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	19321859	47163175	86688720	45	18451											
DNAJC22	79962	broad.mit.edu	37	chr12	49745175	49745175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctagtgaaggtctggcacCcagaccacaacctggaccag	12	5	11	13	0	1	2	0	1	1	1	1	3	1	3	4	3	2	2	4	3	3	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:49745175C>T	uc001rua.3	+	2	1317	c.916C>T	c.(916-918)Cca>Tca	p.P306S	DNAJC22_uc001rub.3_Missense_Mutation_p.P306S	NM_024902	NP_079178	Q8N4W6	DJC22_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 22 (DNAJC22), mRNA.	306	J.				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(1)|ovary(1)|pancreas(1)	10						GGTCTGGCACCCAGACCACAA	0.522													T	49745175	C	T	49745175	3	4	263	1	0	0	0	0	1	0	0	0	4680	623	22	2	922	2	DNAJC22	12	49745175	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	2582000	49745175	84106720	46	18452											
TARBP2	6895	broad.mit.edu	37	chr12	53895818	53895818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatagagcaaatgctggccGccaacccaggcaagaccccg	12	4	11	14	2	0	2	0	0	0	2	0	2	0	2	5	2	3	4	5	2	5	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:53895818G>A	uc001sdo.3	+	1	561	c.73G>A	c.(73-75)Gcc>Acc	p.A25T	MAP3K12_uc001sdm.2_5'Flank|MAP3K12_uc001sdn.2_5'Flank|TARBP2_uc009znb.3_Missense_Mutation_p.A25T|TARBP2_uc001sdp.3_Missense_Mutation_p.A4T|TARBP2_uc001sdr.3_5'UTR|TARBP2_uc001sdt.3_Missense_Mutation_p.A4T	NM_134323	NP_599151	Q15633	TRBP2_HUMAN	Homo sapiens TAR (HIV-1) RNA binding protein 2 (TARBP2), transcript variant 1, mRNA.	25	Sufficient for interaction with PRKRA.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						AATGCTGGCCGCCAACCCAGG	0.592													A	53895818	G	A	53895818	3	1	263	1	0	0	0	0	1	0	0	0	15653	1087	38	1	79	1	TARBP2	12	53895818	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	4150643	53895818	79956077	47	18453											
CCDC63	160762	broad.mit.edu	37	chr12	111322003	111322003	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcggttcacgtatgtcacGgagctcaacaacgacatgga	11	8	11	11	4	3	0	3	0	0	0	4	3	3	2	0	3	3	4	0	3	3	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:111322003G>A	uc001trv.1	+	7	1218	c.1023G>A	c.(1021-1023)acG>acA	p.T341T	CCDC63_uc010sye.1_Silent_p.T301T|CCDC63_uc001trw.1_Silent_p.T256T	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN	Homo sapiens coiled-coil domain containing 63 (CCDC63), mRNA.	341										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						CGTATGTCACGGAGCTCAACA	0.552													A	111322003	G	A	111322003	2	1	263	1	0	0	0	0	0	0	0	1	2862	1103	39	1		1	CCDC63	12	111322003	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	57426185	111322003	22529892	48	18454											
OASL	8638	broad.mit.edu	37	chr12	121469372	121469372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaccgcaggccttgatcAggctcacatagacctcaggg	10	6	11	14	1	3	2	3	1	0	1	3	3	3	2	4	3	0	2	4	3	1	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:121469372A>G	uc001tzj.1	-	2	536	c.530T>C	c.(529-531)cTg>cCg	p.L177P	OASL_uc001tzk.1_Missense_Mutation_p.L177P	NM_003733	NP_003724	Q15646	OASL_HUMAN	Homo sapiens 2'-5'-oligoadenylate synthetase-like (OASL), transcript variant 1, mRNA.	177					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGCCTTGATCAGGCTCACATA	0.552													G	121469372	A	G	121469372	3	3	263	1	0	0	0	0	1	0	0	0	10878	188	7	3	1030	3	OASL	12	121469372	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	10147369	121469372	12382523	49	18455											
RIMBP2	23504	broad.mit.edu	37	chr12	130934752	130934752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcacttacctatagcGggcaacacagaggtggacct	10	6	13	12	2	0	1	0	0	0	1	0	2	0	2	3	4	3	2	3	4	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr12:130934752G>A	uc001uil.2	-	5	739	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	RIMBP2_uc001uim.3_Missense_Mutation_p.R83C	NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	175	SH3 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACCTATAGCGGGCAACACAG	0.552													A	130934752	G	A	130934752	3	1	263	1	0	0	0	0	1	0	0	0	13452	1116	39	1	2691	1	RIMBP2	12	130934752	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	9465380	130934752	2917143	50	18456											
USPL1	10208	broad.mit.edu	37	chr13	31232152	31232152	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatgaaaagcttattcaAgaccaatttgtggacataag	16	12	8	5	0	1	2	1	1	0	1	1	3	1	3	1	1	1	2	1	1	7	5			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:31232152A>G	uc001utc.2	+	8	2370	c.1938A>G	c.(1936-1938)caA>caG	p.Q646Q	USPL1_uc001utd.2_Silent_p.Q317Q|USPL1_uc001ute.1_Silent_p.Q317Q	NM_005800	NP_005791	Q5W0Q7	USPL1_HUMAN	Homo sapiens ubiquitin specific peptidase like 1 (USPL1), mRNA.	646					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(15)|pancreas(3)|skin(3)	34		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0306)|Epithelial(112;0.131)|OV - Ovarian serous cystadenocarcinoma(117;0.134)		AGCTTATTCAAGACCAATTTG	0.343													G	31232152	A	G	31232152	2	3	263	1	0	0	0	0	0	0	0	1	17194	69	3	3		3	USPL1	13	31232152	Silent	SNP	A	TCGA-76-4932-01A-01D-1486-08		31232152	83937726	51	18457											
THSD1	55901	broad.mit.edu	37	chr13	52951899	52951899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccaaggtctggtttccTcaagggctgccccaaagtgt	8	10	10	13	0	2	0	1	0	1	0	4	0	4	0	5	3	1	2	5	3	3	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr13:52951899T>C	uc001vgo.3	-	4	2751	c.2206A>G	c.(2206-2208)Agg>Ggg	p.R736G	THSD1_uc001vgp.3_Missense_Mutation_p.R683G|THSD1_uc010tgz.2_Missense_Mutation_p.R357G	NM_018676	NP_061146	Q9NS62	THSD1_HUMAN	Homo sapiens thrombospondin, type I, domain containing 1 (THSD1), transcript variant 1, mRNA.	736						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		TCTGGTTTCCTCAAGGGCTGC	0.552													C	52951899	T	C	52951899	3	2	263	1	0	0	0	0	1	0	0	0	15977	1550	54	3	356	3	THSD1	13	52951899	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	21719747	52951899	62217979	52	18458											
EDDM3A	10876	broad.mit.edu	37	chr14	21216002	21216002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgagaaggggagcgaccGatatagaaatgcatatgtat	16	8	12	5	2	0	2	0	1	0	2	0	6	0	3	1	2	2	2	1	2	7	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr14:21216002G>A	uc021rom.1	+	0	263	c.263G>A	c.(262-264)cGa>cAa	p.R88Q	EDDM3A_uc001vyc.3_Missense_Mutation_p.R88Q	NM_006683	NP_006674	Q14507	EP3A_HUMAN	Homo sapiens epididymal protein 3A (EDDM3A), mRNA.	88					sperm displacement	extracellular space		p.R88Q(2)|p.R88R(1)		breast(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						GGGAGCGACCGATATAGAAAT	0.453													A	21216002	G	A	21216002	3	1	263	1	0	0	0	0	1	0	0	0	4948	1058	37	1	265	1	EDDM3A	14	21216002	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		21216002	86133538	53	18459											
MKRN3	7681	broad.mit.edu	37	chr15	23811039	23811039	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccttcccgtctgtgagcCctccggggaatctgctgctc	4	10	12	15	2	2	1	0	1	2	0	5	3	4	3	4	3	3	2	4	3	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:23811039C>A	uc001ywh.4	+	0	586	c.110C>A	c.(109-111)cCc>cAc	p.P37H	MKRN3_uc001ywi.3_Missense_Mutation_p.P37H|MKRN3_uc010ayi.1_Missense_Mutation_p.P37H	NM_005664	NP_005655	Q13064	MKRN3_HUMAN	Homo sapiens makorin ring finger protein 3 (MKRN3), mRNA.	37						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTCTGTGAGCCCTCCGGGGAA	0.687													A	23811039	C	A	23811039	3	1	263	1	0	0	0	0	1	0	0	0	9683	623	22	4	112	4	MKRN3	15	23811039	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		23811039	78720353	54	18460											
TMOD2	29767	broad.mit.edu	37	chr15	52075020	52075020	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgcagcaatgaccctgtgGccattgtgagtaaaattctt	10	12	9	10	1	1	2	0	2	1	0	2	2	1	2	2	1	1	3	2	1	3	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:52075020G>C	uc002abk.3	+	6	948	c.727G>C	c.(727-729)Gcc>Ccc	p.A243P	TMOD2_uc002abl.4_Intron|TMOD2_uc010bfb.3_Missense_Mutation_p.A199P	NM_014548	NP_055363	Q9NZR1	TMOD2_HUMAN	Homo sapiens tropomodulin 2 (neuronal) (TMOD2), transcript variant 1, mRNA.	243					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		TGACCCTGTGGCCATTGTGAG	0.398													C	52075020	G	C	52075020	3	2	263	1	0	0	0	0	1	0	0	0	16334	1203	42	4	749	4	TMOD2	15	52075020	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	28263981	52075020	50456372	55	18461											
FSD2	123722	broad.mit.edu	37	chr15	83455346	83455346	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatttgtacatgttttTgtgaatttcatcctatccaa	10	19	4	8	0	1	1	1	1	0	0	4	1	4	1	3	0	1	2	3	0	5	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:83455346T>C	uc002bjd.2	-	2	819	c.652A>G	c.(652-654)Aaa>Gaa	p.K218E	FSD2_uc010uol.1_Missense_Mutation_p.K218E|FSD2_uc010uom.1_Missense_Mutation_p.K218E	NM_001007122	NP_001007123	A1L4K1	FSD2_HUMAN	Homo sapiens fibronectin type III and SPRY domain containing 2 (FSD2), mRNA.	218										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TACATGTTTTTGTGAATTTCA	0.363													C	83455346	T	C	83455346	3	2	263	1	0	0	0	0	1	0	0	0	6123	1821	63	3	1641	3	FSD2	15	83455346	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	31380326	83455346	19076046	56	18462											
PDE8A	5151	broad.mit.edu	37	chr15	85664158	85664158	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattttgtacaatgacaCtgctgtgctggagagccacc	9	10	11	11	0	0	2	0	1	0	1	0	3	0	2	3	2	4	3	3	2	2	3	rs144501404	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:85664158C>G	uc002blh.3	+	17	2054	c.1865C>G	c.(1864-1866)aCt>aGt	p.T622S	PDE8A_uc021stv.1_Missense_Mutation_p.T550S|PDE8A_uc002bli.3_Missense_Mutation_p.T576S|PDE8A_uc010bnc.3_Missense_Mutation_p.T375S|PDE8A_uc010bnd.3_Missense_Mutation_p.T375S|PDE8A_uc002blj.3_Missense_Mutation_p.T242S|PDE8A_uc002blk.3_Missense_Mutation_p.T242S|PDE8A_uc002bll.3_5'UTR	NM_002605	NP_001230066	O60658	PDE8A_HUMAN	Homo sapiens phosphodiesterase 8A (PDE8A), transcript variant 1, mRNA.	622	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TACAATGACACTGCTGTGCTG	0.483													G	85664158	C	G	85664158	3	3	263	1	0	0	0	0	1	0	0	0	11729	565	20	4	1935	4	PDE8A	15	85664158	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	2208812	85664158	16867234	57	18463											
PCSK6	5046	broad.mit.edu	37	chr15	101853660	101853660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctggcacacacttccagtCgtggaagtggaagtttttcg	8	11	13	9	2	0	0	0	0	0	0	3	2	1	2	1	4	0	3	1	4	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr15:101853660C>T	uc002bxa.2	-	20	2931	c.2617G>A	c.(2617-2619)Gac>Aac	p.D873N	PCSK6_uc010bpd.3_Missense_Mutation_p.D670N|PCSK6_uc002bwy.3_Missense_Mutation_p.D873N|PCSK6_uc010bpe.3_Missense_Mutation_p.D857N|PCSK6_uc002bxb.2_Missense_Mutation_p.D860N	NM_138320	NP_612193	P29122	PCSK6_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 6 (PCSK6), transcript variant 7, mRNA.	874	CRM (Cys-rich motif).				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CACTTCCAGTCGTGGAAGTGG	0.567													T	101853660	C	T	101853660	3	4	263	1	0	0	0	0	1	0	0	0	11680	884	31	1	530	1	PCSK6	15	101853660	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	16189502	101853660	677732	58	18464											
SRCAP	10847	broad.mit.edu	37	chr16	30748891	30748894	+	Frame_Shift_Del	DEL	TCAT	TCAT	-																															gcctgtacccctccaccagcTcatacaccgcctccagccca																										TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:30748891_30748894delTCAT	uc002dze.1	+	33	7915_7918	c.7530_7533delTCAT	c.(7528-7533)gctcatfs	p.A2510fs	SRCAP_uc002dzf.3_Non-coding_Transcript|SRCAP_uc002dzg.1_Frame_Shift_Del_p.A2305fs	NM_006662	NP_006653	Q6ZRS2	SRCAP_HUMAN	Homo sapiens Snf2-related CREBBP activator protein (SRCAP), mRNA.	2510	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			ctccaccagctcatacaccgcctc	0.564													-	30748894	TCAT	-	30748891	7	5	263	1	0	1	0	1	0	0	0	0	15231	1538	54	0	7656	0	SRCAP	16	30748891	Frame_Shift_Del	DEL	TCAT	TCGA-76-4932-01A-01D-1486-08		30748891	59605862	59	18465											
CNTNAP4	85445	broad.mit.edu	37	chr16	76461484	76461484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcgaatcgaagtgttcGgatgtgcatacagtaagtgt	12	11	13	5	3	0	0	0	0	0	0	2	4	0	1	0	1	3	3	0	1	5	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:76461484G>A	uc002fex.1	+	2	674	c.535G>A	c.(535-537)Gga>Aga	p.G179R	CNTNAP4_uc002feu.1_Missense_Mutation_p.G175R|CNTNAP4_uc002fev.1_Missense_Mutation_p.G88R|CNTNAP4_uc010chb.1_Missense_Mutation_p.G151R|CNTNAP4_uc002few.2_Missense_Mutation_p.G151R	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	176					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						CGAAGTGTTCGGATGTGCATA	0.398													A	76461484	G	A	76461484	3	1	263	1	0	0	0	0	1	0	0	0	3680	1117	39	1	553	1	CNTNAP4	16	76461484	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	45712593	76461484	13893269	60	18466											
ADAMTS18	170692	broad.mit.edu	37	chr16	77389861	77389861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatttcttgagatactggCggctgcaggaagaccatgaa	12	9	13	7	1	1	3	0	2	1	2	1	6	1	5	1	4	2	2	1	4	4	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr16:77389861C>T	uc002ffc.4	-	8	1855	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H	ADAMTS18_uc010chc.1_Missense_Mutation_p.R67H|ADAMTS18_uc002ffe.1_Missense_Mutation_p.R175H|ADAMTS18_uc010vni.1_Non-coding_Transcript	NM_199355	NP_955387	Q8TE60	ATS18_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 18 (ADAMTS18), mRNA.	479	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.R479H(2)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						GAGATACTGGCGGCTGCAGGA	0.488													T	77389861	C	T	77389861	3	4	263	1	0	0	0	0	1	0	0	0	263	768	27	1	2289	1	ADAMTS18	16	77389861	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08	928377	77389861	12964892	61	18467											
KRT38	8687	broad.mit.edu	37	chr17	39593695	39593695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggtggtgctggctccaCaggtgggcccacaggtggtg	4	9	17	11	1	0	0	0	0	0	0	2	0	2	0	3	7	1	2	3	7	0	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr17:39593695C>T	uc002hwq.1	-	6	1763	c.1340G>A	c.(1339-1341)tGt>tAt	p.C447Y		NM_006771	NP_006762	O76015	KRT38_HUMAN	Homo sapiens keratin 38 (KRT38), mRNA.	447	Tail.					intermediate filament	structural molecule activity	p.C447S(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GCTGGCTCCACAGGTGGGCCC	0.612													T	39593695	C	T	39593695	3	4	263	1	0	0	0	0	1	0	0	0	8533	478	17	2	34	2	KRT38	17	39593695	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		39593695	41601515	62	18468											
DNM2	1785	broad.mit.edu	37	chr19	10887808	10887808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggcctacggaccatcGgtgtcatcaccaagcttgac	9	10	9	13	2	3	1	3	1	0	0	4	2	3	2	3	3	2	1	3	3	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:10887808G>A	uc002mpt.2	+	4	794	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Missense_Mutation_p.G202S|DNM2_uc010dxl.2_Missense_Mutation_p.G202S|DNM2_uc002mpu.2_Missense_Mutation_p.G202S|DNM2_uc002mpv.2_Missense_Mutation_p.G202S	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	202					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			ACGGACCATCGGTGTCATCAC	0.597			"F, N, Splice, Mis, O"		ETP ALL								A	10887808	G	A	10887808	3	1	263	1	0	0	0	0	1	0	0	0	4711	1116	39	1	622	1	DNM2	19	10887808	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		10887808	48241175	63	18469											
CILP2	148113	broad.mit.edu	37	chr19	19654993	19654993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctcgaggtgccggcGtgtaccacgaggtcaaggcc	7	8	14	12	4	1	1	1	1	0	0	3	3	2	1	4	4	2	1	4	4	2	2			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:19654993G>A	uc002nmw.4	+	7	1742	c.1657G>A	c.(1657-1659)Gtg>Atg	p.V553M	CILP2_uc002nmv.4_Missense_Mutation_p.V547M	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	547						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AGGTGCCGGCGTGTACCACGA	0.622													A	19654993	G	A	19654993	3	1	263	1	0	0	0	0	1	0	0	0	3460	1145	40	1	1669	1	CILP2	19	19654993	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	8767185	19654993	39473990	64	18470											
ZNF701	55762	broad.mit.edu	37	chr19	53085986	53085986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagagtggcaaagcctttaAtggtagctcactcttaaaaa	14	11	9	7	0	2	1	1	1	1	1	2	2	2	1	1	2	2	3	1	2	6	4			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:53085986A>G	uc010ydn.2	+	4	935	c.872A>G	c.(871-873)aAt>aGt	p.N291S	ZNF701_uc002pzs.2_Missense_Mutation_p.N225S|ZNF701_uc021uyw.1_Missense_Mutation_p.N291S	NM_018260	NP_060730	Q9NV72	ZN701_HUMAN	Homo sapiens zinc finger protein 701 (ZNF701), transcript variant 2, mRNA.	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAGCCTTTAATGGTAGCTCA	0.368													G	53085986	A	G	53085986	3	3	263	1	0	0	0	0	1	0	0	0	18206	101	4	3	886	3	ZNF701	19	53085986	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	33430993	53085986	6042997	65	18471											
LILRB2	10288	broad.mit.edu	37	chr19	54782295	54782295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggcatcagctgctccCgccttggtcagaaggaaagt	9	8	14	10	1	2	1	2	0	0	1	3	2	3	2	2	4	2	3	2	4	2	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:54782295C>T	uc002qfb.3	-	6	1343	c.1077G>A	c.(1075-1077)gcG>gcA	p.A359A	LILRB3_uc002qew.2_Intron|LILRB2_uc010eri.3_Silent_p.A359A|LILRB2_uc010erj.3_Non-coding_Transcript|LILRB2_uc002qfc.3_Silent_p.A359A|LILRB2_uc010yet.2_Silent_p.A243A|LILRB2_uc010yeu.1_Non-coding_Transcript	NM_005874	NP_005865	Q8N423	LIRB2_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2 (LILRB2), transcript variant 1, mRNA.	359	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGCTGCTCCCGCCTTGGTCA	0.572													T	54782295	C	T	54782295	2	4	263	1	0	0	0	0	0	0	0	1	8851	639	23	1		1	LILRB2	19	54782295	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	1696309	54782295	4346688	66	18472											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601319	58601319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccaccacccagggccGgaccttatcaggcaggatgc	8	6	12	15	1	1	0	1	0	0	0	1	2	1	2	5	4	2	1	5	4	1	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr19:58601319G>A	uc010yht.1	-	1	514	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	ZSCAN18_uc002qrj.3_Missense_Mutation_p.R106W|ZSCAN18_uc010yhs.1_Intron|ZSCAN18_uc002qrh.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qri.2_Missense_Mutation_p.R106W|ZSCAN18_uc002qrk.1_Missense_Mutation_p.R106W|ZSCAN18_uc002qrl.2_Missense_Mutation_p.R106W	NM_001145542	NP_001139014	Q8TBC5	ZSC18_HUMAN	Homo sapiens zinc finger and SCAN domain containing 18 (ZSCAN18), transcript variant 1, mRNA.	106					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		ACCCAGGGCCGGACCTTATCA	0.647													A	58601319	G	A	58601319	3	1	263	1	0	0	0	0	1	0	0	0	18328	1115	39	1	1240	1	ZSCAN18	19	58601319	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	3819024	58601319	527664	67	18473											
MATN4	8785	broad.mit.edu	37	chr20	43933173	43933173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtactggattgccagtcccGtcatggtgccttgcgccaga	6	10	12	13	3	1	1	1	0	0	1	2	2	2	2	4	2	4	1	4	2	1	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:43933173G>A	uc002xnn.2	-	2	525	c.338C>T	c.(337-339)aCg>aTg	p.T113M	MATN4_uc002xnp.2_Missense_Mutation_p.T113M|MATN4_uc002xno.2_Missense_Mutation_p.T113M|MATN4_uc010zwr.1_Missense_Mutation_p.T61M|MATN4_uc002xnr.1_Missense_Mutation_p.T113M|RBPJL_uc002xns.3_5'Flank|RBPJL_uc002xnt.3_5'Flank	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	113	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				TGCCAGTCCCGTCATGGTGCC	0.667													A	43933173	G	A	43933173	3	1	263	1	0	0	0	0	1	0	0	0	9411	1145	40	1	1439	1	MATN4	20	43933173	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08		43933173	19092347	68	18474											
MC3R	4159	broad.mit.edu	37	chr20	54824649	54824649	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaccattctcctgggcgtGttcatcttctgctgggcccc	4	13	9	15	1	5	0	2	0	3	0	6	0	5	0	4	2	1	2	4	2	0	3	rs139424256		TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:54824649G>C	uc002xxb.2	+	0	862	c.750G>C	c.(748-750)gtG>gtC	p.V250V		NM_019888	NP_063941	P41968	MC3R_HUMAN	Homo sapiens melanocortin 3 receptor (MC3R), mRNA.	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			TCCTGGGCGTGTTCATCTTCT	0.597													C	54824649	G	C	54824649	2	2	263	1	0	0	0	0	0	0	0	1	9440	1364	48	4		4	MC3R	20	54824649	Silent	SNP	G	TCGA-76-4932-01A-01D-1486-08	10891476	54824649	8200871	69	18475											
C20orf43	51507	broad.mit.edu	37	chr20	55093243	55093243	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcggaggcctacaagtccctCtttaccactcacagctccgc	8	9	7	17	2	2	0	1	0	1	0	5	1	4	1	4	2	3	1	4	2	3	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr20:55093243C>G	uc010zzf.1	+	9	1040	c.933C>G	c.(931-933)ctC>ctG	p.L311L	C20orf43_uc002xxt.2_Silent_p.L281L|C20orf43_uc002xxu.2_Silent_p.L280L|GCNT7_uc010zzg.1_Intron	NM_016407	NP_057491	Q9BY42	CT043_HUMAN	Homo sapiens chromosome 20 open reading frame 43 (C20orf43), mRNA.	281										breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	10			Colorectal(105;0.202)			ACAAGTCCCTCTTTACCACTC	0.577													G	55093243	C	G	55093243	2	3	263	1	0	0	0	0	0	0	0	1	2133	900	32	4		4	C20orf43	20	55093243	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	268594	55093243	7932277	70	18476											
IFNAR2	3455	broad.mit.edu	37	chr21	34625094	34625094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagcaagcagtaataaagtCtcccttaaaatgcaccctcc	14	9	6	12	0	1	1	0	1	1	0	3	1	2	1	3	0	3	4	3	0	6	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:34625094C>T	uc002yrd.3	+	6	996	c.668C>T	c.(667-669)tCt>tTt	p.S223F	IFNAR2_uc002yrb.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrc.3_Missense_Mutation_p.S223F|IFNAR2_uc002yre.3_Missense_Mutation_p.S223F|IFNAR2_uc002yrf.3_Missense_Mutation_p.S223F|IFNAR2_uc002yri.1_5'UTR|IFNAR2_uc002yrh.1_Missense_Mutation_p.S73F	NM_207585	NP_997468	P48551	INAR2_HUMAN	Homo sapiens interferon (alpha, beta and omega) receptor 2 (IFNAR2), transcript variant 1, mRNA.	223					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	GTAATAAAGTCTCCCTTAAAA	0.373													T	34625094	C	T	34625094	3	4	263	1	0	0	0	0	1	0	0	0	7603	913	32	2	690	2	IFNAR2	21	34625094	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		34625094	13504801	71	18477											
TRPM2	7226	broad.mit.edu	37	chr21	45859043	45859043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaacttgctgaagtgcGgcatggaggtattcctggcc	9	11	13	8	1	0	2	0	2	0	0	1	3	1	3	2	4	3	3	2	4	4	4	rs142254503	byFrequency	TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr21:45859043G>A	uc010gpt.1	+	30	4511	c.4411G>A	c.(4411-4413)Ggc>Agc	p.G1471S	TRPM2_uc002zet.1_Missense_Mutation_p.G1421S|TRPM2_uc002zeu.1_Missense_Mutation_p.G1421S|TRPM2_uc021wjr.1_Non-coding_Transcript|TRPM2_uc002zew.1_Missense_Mutation_p.G1421S|TRPM2_uc002zex.1_Missense_Mutation_p.G1207S|TRPM2_uc002zey.1_Missense_Mutation_p.G900S|TRPM2_uc011aff.1_Missense_Mutation_p.G102S	NM_003307	NP_003298	O94759	TRPM2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily M, member 2 (TRPM2), transcript variant 1, mRNA.	1421	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCTGAAGTGCGGCATGGAGGT	0.602													A	45859043	G	A	45859043	3	1	263	1	0	0	0	0	1	0	0	0	16687	1116	39	1	4379	1	TRPM2	21	45859043	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	11233949	45859043	2270852	72	18478											
ZNF280B	140883	broad.mit.edu	37	chr22	22842526	22842526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcacacatagggcatttCgccaggcttatgatggtcct	8	11	11	11	1	0	1	0	1	0	0	2	1	1	1	2	4	0	3	2	4	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:22842526C>T	uc002zwc.1	-	3	1974	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Missense_Mutation_p.E400K	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	400					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G399G(1)		autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TAGGGCATTTCGCCAGGCTTA	0.433													T	22842526	C	T	22842526	3	4	263	1	0	0	0	0	1	0	0	0	17916	893	31	1	437	1	ZNF280B	22	22842526	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		22842526	28462040	73	18479											
MOV10L1	54456	broad.mit.edu	37	chr22	50596602	50596602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagtcaggtgtctgccagCgacattggcgtcatcacgcc	7	9	11	14	3	4	0	3	0	1	0	5	1	5	0	3	2	2	0	3	2	0	1			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chr22:50596602C>T	uc003bjj.3	+	22	3266	c.3183C>T	c.(3181-3183)agC>agT	p.S1061S	MOV10L1_uc003bjk.4_Silent_p.S1061S|MOV10L1_uc011arp.2_Silent_p.S1041S|MOV10L1_uc003bjl.3_Silent_p.S188S|MOV10L1_uc003bjm.1_Silent_p.S104S	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	1061					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TGTCTGCCAGCGACATTGGCG	0.652													T	50596602	C	T	50596602	2	4	263	1	0	0	0	0	0	0	0	1	9795	767	27	1		1	MOV10L1	22	50596602	Silent	SNP	C	TCGA-76-4932-01A-01D-1486-08	27754076	50596602	707964	74	18480											
GLRA2	2742	broad.mit.edu	37	chrX	14599498	14599498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacaaattgctacggatttCgaaaaatggcaaagtgctct	15	10	8	8	2	1	0	0	0	1	0	2	2	1	1	0	2	4	3	0	2	6	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:14599498C>T	uc010neq.3	+	3	1224	c.464C>T	c.(463-465)tCg>tTg	p.S155L	GLRA2_uc004cwe.4_Missense_Mutation_p.S155L|GLRA2_uc011mio.2_Missense_Mutation_p.S66L|GLRA2_uc010nep.3_Missense_Mutation_p.S155L|GLRA2_uc011mip.2_Missense_Mutation_p.S133L	NM_002063	NP_002054	P23416	GLRA2_HUMAN	Homo sapiens glycine receptor, alpha 2 (GLRA2), transcript variant 1, mRNA.	155					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity	p.S155L(3)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	CTACGGATTTCGAAAAATGGC	0.453													T	14599498	C	T	14599498	3	4	263	1	0	0	0	0	1	0	0	0	6511	893	31	1	550	1	GLRA2	23	14599498	Missense_Mutation	SNP	C	TCGA-76-4932-01A-01D-1486-08		14599498	140671062	75	18481											
LANCL3	347404	broad.mit.edu	37	chrX	37431325	37431325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggggggctttatggcGgcgtggccggagtggcgtat	4	8	21	8	4	0	0	0	0	0	0	0	1	0	1	2	8	0	2	2	8	2	3			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:37431325G>A	uc011mkd.2	+	0	504	c.202G>A	c.(202-204)Ggc>Agc	p.G68S	LANCL3_uc004ddp.2_Missense_Mutation_p.G68S	NM_001170331	NP_001163802	Q6ZV70	LANC3_HUMAN	Homo sapiens LanC lantibiotic synthetase component C-like 3 (bacterial) (LANCL3), transcript variant 2, mRNA.	68							catalytic activity			lung(4)|pancreas(1)	5						GCTTTATGGCGGCGTGGCCGG	0.711													A	37431325	G	A	37431325	3	1	263	1	0	0	0	0	1	0	0	0	8681	1116	39	1	204	1	LANCL3	23	37431325	Missense_Mutation	SNP	G	TCGA-76-4932-01A-01D-1486-08	22831827	37431325	117839235	76	18482											
MORC4	79710	broad.mit.edu	37	chrX	106221358	106221358	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattttatgagtcggttgttAtgatacatcattattccaaa	12	17	7	5	1	1	2	1	2	0	0	3	3	2	2	1	1	1	2	1	1	5	7			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:106221358A>T	uc004emu.4	-	7	1283	c.1008T>A	c.(1006-1008)caT>caA	p.H336Q	MORC4_uc004emp.4_Intron|MORC4_uc004emv.4_Missense_Mutation_p.H336Q|MORC4_uc004emw.4_Missense_Mutation_p.H84Q	NM_024657	NP_078933	Q8TE76	MORC4_HUMAN	Homo sapiens MORC family CW-type zinc finger 4 (MORC4), transcript variant 1, mRNA.	336							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GTCGGTTGTTATGATACATCA	0.393													T	106221358	A	T	106221358	3	4	263	1	0	0	0	0	1	0	0	0	9780	446	16	5	1845	5	MORC4	23	106221358	Missense_Mutation	SNP	A	TCGA-76-4932-01A-01D-1486-08	68790033	106221358	49049202	77	18483											
THOC2	57187	broad.mit.edu	37	chrX	122756613	122756613	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcacagtgttcctacctgtTagagccactatttccattgc	8	13	8	12	0	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	3	6			TCGA-76-4932-01A-01D-1486-08	TCGA-76-4932-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81656daa-af7c-430c-afa3-0eb10eb9a695	345b16b4-b6d8-43f6-a586-9250153414aa	g.chrX:122756613T>A	uc004etu.3	-	29	3813	c.3781A>T	c.(3781-3783)Aac>Tac	p.N1261Y	THOC2_uc010nqt.1_5'Flank|THOC2_uc004etw.1_Missense_Mutation_p.N82Y	NM_001081550	NP_001075019	Q8NI27	THOC2_HUMAN	Homo sapiens THO complex 2 (THOC2), mRNA.	1261					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCTACCTGTTAGAGCCACTA	0.373													A	122756613	T	A	122756613	3	1	263	1	0	0	0	0	1	0	0	0	15965	1754	61	5	1036	5	THOC2	23	122756613	Missense_Mutation	SNP	T	TCGA-76-4932-01A-01D-1486-08	16535255	122756613	32513947	78	18484											
LEPRE1	64175	broad.mit.edu	37	chr1	43215947	43215947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgatgcgccgcacctTctccgtcacgttgtagtaca	7	11	8	15	4	2	1	1	1	1	0	4	1	3	1	4	0	2	4	4	0	2	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:43215947T>C	uc001chx.4	-	10	1743	c.1630A>G	c.(1630-1632)Aag>Gag	p.K544E	LEPRE1_uc001chw.2_Missense_Mutation_p.K544E|LEPRE1_uc001chv.2_Missense_Mutation_p.K544E	NM_001243246	NP_001230175	Q32P28	P3H1_HUMAN	Homo sapiens leucine proline-enriched proteoglycan (leprecan) 1 (LEPRE1), transcript variant 3, mRNA.	544					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGCCGCACCTTCTCCGTCACG	0.577													C	43215947	T	C	43215947	3	2	264	1	0	0	0	0	1	0	0	0	8788	1792	62	3	619	3	LEPRE1	1	43215947	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08		43215947	206034674	1	18485											
NEXN	91624	broad.mit.edu	37	chr1	78401572	78401572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactgatcaaattaaaaaGgagtggctctattcaagcta	17	10	8	6	0	3	2	2	1	1	1	3	3	3	3	0	2	2	2	0	2	8	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:78401572G>T	uc001dic.4	+	10	1613	c.1316G>T	c.(1315-1317)aGg>aTg	p.R439M	NEXN_uc001dia.3_Missense_Mutation_p.R425M|NEXN_uc009wcb.1_Missense_Mutation_p.R361M|NEXN_uc001dib.4_Missense_Mutation_p.R375M|NEXN_uc001did.1_Missense_Mutation_p.R349M|NEXN_uc001dif.1_Missense_Mutation_p.R331M|NEXN_uc001dig.4_Missense_Mutation_p.R80M	NM_144573	NP_653174	Q0ZGT2	NEXN_HUMAN	Homo sapiens nexilin (F actin binding protein) (NEXN), transcript variant 1, mRNA.	439	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		AAATTAAAAAGGAGTGGCTCT	0.313													T	78401572	G	T	78401572	3	4	264	1	0	0	0	0	1	0	0	0	10431	1000	35	4	1354	4	NEXN	1	78401572	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	35185625	78401572	170849049	2	18486											
LPAR3	23566	broad.mit.edu	37	chr1	85331314	85331314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaattccagcccagtgTggggaccgcccccataaaaa	12	5	11	13	1	0	0	0	0	0	0	1	2	1	1	5	3	1	1	5	3	4	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:85331314T>C	uc001dkl.2	-	0	529	c.490A>G	c.(490-492)Aca>Gca	p.T164A	LPAR3_uc009wcj.1_Missense_Mutation_p.T164A	NM_012152	NP_036284	Q9UBY5	LPAR3_HUMAN	Homo sapiens lysophosphatidic acid receptor 3 (LPAR3), mRNA.	164					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						CAGCCCAGTGTGGGGACCGCC	0.527													C	85331314	T	C	85331314	3	2	264	1	0	0	0	0	1	0	0	0	8976	1696	59	3	579	3	LPAR3	1	85331314	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	6929742	85331314	163919307	3	18487											
TDRD10	126668	broad.mit.edu	37	chr1	154493902	154493902	+	Frame_Shift_Del	DEL	A	A	-																															aactgttcgtgaatacaagcAaaaggccccccaagaggacc																										TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr1:154493902delA	uc009wow.3	+	5	1154	c.316delA	c.(316-318)aaafs	p.K106fs	TDRD10_uc001ffd.3_Frame_Shift_Del_p.K106fs|TDRD10_uc001ffe.3_Frame_Shift_Del_p.K27fs	NM_001098475	NP_001091945	Q5VZ19	TDR10_HUMAN	Homo sapiens tudor domain containing 10 (TDRD10), transcript variant 1, mRNA.	106	RRM.						nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			GAATACAAGCAAAAGGCCCCC	0.517													-	154493902	A	-	154493902	7	5	264	1	0	1	0	1	0	0	0	0	15831	131	5	0	334	0	TDRD10	1	154493902	Frame_Shift_Del	DEL	A	TCGA-76-4934-01A-01D-1486-08	69162588	154493902	94756719	4	18488											
MAP4K3	8491	broad.mit.edu	37	chr2	39515367	39515367	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacatctcttgattgttcCttgattttcatcctcagtag	7	17	8	9	0	3	2	2	2	1	0	6	3	5	3	2	1	0	2	2	1	1	7			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:39515367C>A	uc002rro.3	-	19	1460	c.1369G>T	c.(1369-1371)Gga>Tga	p.G457*	MAP4K3_uc002rrp.3_Nonsense_Mutation_p.G436*|MAP4K3_uc010yns.2_Nonsense_Mutation_p.G10*	NM_003618	NP_003609	Q8IVH8	M4K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 3 (MAP4K3), mRNA.	457					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTGATTGTTCCTTGATTTTCA	0.428													A	39515367	C	A	39515367	4	1	264	1	0	0	0	0	0	1	0	0	9336	690	24	4	1375	4	MAP4K3	2	39515367	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		39515367	203684006	5	18489											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809103	48809103	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgataactcaaatttattGcctctgctttgtgaatggga	10	16	9	6	0	2	2	1	2	1	0	2	3	2	3	1	1	3	1	1	1	4	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:48809103G>T	uc002rwp.2	+	1	1445	c.1331G>T	c.(1330-1332)tGc>tTc	p.C444F	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.C444F|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.C444F	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	444					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CAAATTTATTGCCTCTGCTTT	0.383													T	48809103	G	T	48809103	3	4	264	1	0	0	0	0	1	0	0	0	15413	1319	46	4	1333	4	STON1-GTF2A1L	2	48809103	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	9293736	48809103	194390270	6	18490											
CCDC85A	114800	broad.mit.edu	37	chr2	56420085	56420085	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagcccggagcactccaaGcacaggagcgccagccccga	10	1	13	17	3	0	0	0	0	0	0	1	3	1	2	5	3	5	3	5	3	1	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:56420085G>C	uc002rzn.3	+	1	1252	c.750G>C	c.(748-750)aaG>aaC	p.K250N	CCDC85A_uc021vhw.1_Intron	NM_001080433	NP_001073902	Q96PX6	CC85A_HUMAN	Homo sapiens coiled-coil domain containing 85A (CCDC85A), mRNA.	250	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AGCACTCCAAGCACAGGAGCG	0.662													C	56420085	G	C	56420085	3	2	264	1	0	0	0	0	1	0	0	0	2887	962	34	4	756	4	CCDC85A	2	56420085	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	7610982	56420085	186779288	7	18491											
GLI2	2736	broad.mit.edu	37	chr2	121726342	121726342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcctgagccgcaagcgggcGctgtccatctccccactctc	5	7	10	19	4	2	1	0	1	2	0	5	1	3	1	5	1	2	2	5	1	1	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:121726342G>A	uc010flp.3	+	4	726	c.696G>A	c.(694-696)gcG>gcA	p.A232A	GLI2_uc002tmq.1_Intron|GLI2_uc002tmr.1_Intron|GLI2_uc002tmt.4_Intron|GLI2_uc002tmu.4_Intron|GLI2_uc002tmv.1_Missense_Mutation_p.A103T|GLI2_uc010flo.1_Silent_p.A107A|GLI2_uc002tmw.1_Silent_p.A232A	NM_005270	NP_005261	P10070	GLI2_HUMAN	Homo sapiens GLI family zinc finger 2 (GLI2), mRNA.	232					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCAAGCGGGCGCTGTCCATCT	0.632													A	121726342	G	A	121726342	2	1	264	1	0	0	0	0	0	0	0	1	6494	1074	38	1		1	GLI2	2	121726342	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	65306257	121726342	121473031	8	18492											
ZDBF2	57683	broad.mit.edu	37	chr2	207173022	207173022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccagtggctggccaacCtgaagaagtagttaaggagg	12	7	14	8	0	1	2	1	1	0	1	1	3	1	3	3	4	2	3	3	4	5	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:207173022C>A	uc002vbp.2	+	4	4020	c.3770C>A	c.(3769-3771)cCt>cAt	p.P1257H		NM_020923	NP_065974	Q9HCK1	ZDBF2_HUMAN	Homo sapiens zinc finger, DBF-type containing 2 (ZDBF2), mRNA.	1257							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GCTGGCCAACCTGAAGAAGTA	0.383													A	207173022	C	A	207173022	3	1	264	1	0	0	0	0	1	0	0	0	17700	681	24	4	3780	4	ZDBF2	2	207173022	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	85446680	207173022	36026351	9	18493											
PRKAG3	53632	broad.mit.edu	37	chr2	219691740	219691740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtctccagcaccacaGccaagtctcggaatgtgccg	8	8	11	14	2	2	0	0	0	2	0	4	1	2	1	4	1	4	2	4	1	2	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:219691740G>A	uc002vjb.1	-	9	1098	c.1079C>T	c.(1078-1080)gCt>gTt	p.A360V	PRKAG3_uc010zkn.1_Non-coding_Transcript|PRKAG3_uc010fvy.1_Silent_p.L402L	NM_017431	NP_059127	Q9UGI9	AAKG3_HUMAN	Homo sapiens protein kinase, AMP-activated, gamma 3 non-catalytic subunit (PRKAG3), mRNA.	360	CBS 3.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCACCACAGCCAAGTCTCG	0.602													A	219691740	G	A	219691740	3	1	264	1	0	0	0	0	1	0	0	0	12588	971	34	2	406	2	PRKAG3	2	219691740	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	12518718	219691740	23507633	10	18494											
PASK	23178	broad.mit.edu	37	chr2	242065780	242065780	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcagggccagcatccaaCgtggaaggaacgtgtcctgg	9	7	13	12	2	1	0	1	0	0	0	4	2	4	2	4	4	3	1	4	4	3	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr2:242065780C>T	uc002wao.2	-	9	2683	c.2550G>A	c.(2548-2550)acG>acA	p.T850T	PASK_uc010zol.2_Silent_p.T664T|PASK_uc010zom.2_Silent_p.T815T|PASK_uc010fzl.2_Silent_p.T850T|PASK_uc010zon.2_Silent_p.T631T|PASK_uc021vzf.1_Silent_p.T850T|PASK_uc002wap.3_Silent_p.T393T|PASK_uc002waq.3_Silent_p.T850T	NM_015148	NP_055963	Q96RG2	PASK_HUMAN	Homo sapiens PAS domain containing serine/threonine kinase (PASK), transcript variant 2, mRNA.	850				T -> M (in Ref. 2; BAA09484).	regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity	p.T850T(3)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CAGCATCCAACGTGGAAGGAA	0.587													T	242065780	C	T	242065780	2	4	264	1	0	0	0	0	0	0	0	1	11548	523	19	1		1	PASK	2	242065780	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	22374040	242065780	1133593	11	18495											
FBXL2	25827	broad.mit.edu	37	chr3	33415165	33415165	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgaggttgtcgaggccTgaaagccctgctcctgaggg	6	8	17	10	2	0	2	0	2	0	0	2	4	1	2	3	4	3	2	3	4	1	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:33415165T>G	uc003cfp.3	+	7	622	c.551T>G	c.(550-552)cTg>cGg	p.L184R	FBXL2_uc011axm.1_Non-coding_Transcript|FBXL2_uc011axn.1_Non-coding_Transcript|FBXL2_uc011axp.2_Missense_Mutation_p.L100R|FBXL2_uc021wuy.1_Intron|FBXL2_uc011axo.2_Missense_Mutation_p.L79R|FBXL2_uc011axr.1_Non-coding_Transcript|FBXL2_uc011axq.1_Non-coding_Transcript|FBXL2_uc011axs.1_Non-coding_Transcript	NM_012157	NP_036289	Q9UKC9	FBXL2_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 2 (FBXL2), transcript variant 1, mRNA.	184					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						TGTCGAGGCCTGAAAGCCCTG	0.552													G	33415165	T	G	33415165	3	3	264	1	0	0	0	0	1	0	0	0	5765	1580	55	5	581	5	FBXL2	3	33415165	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08		33415165	164607265	12	18496											
CSRNP1	64651	broad.mit.edu	37	chr3	39188146	39188146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcctcatccagctggtCaaatttcctcttcaacagcc	8	13	6	14	0	4	0	3	0	1	0	7	0	7	0	4	1	3	2	4	1	2	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:39188146C>A	uc003cjg.3	-	1	242	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	CSRNP1_uc003cjh.3_Missense_Mutation_p.D10Y	NM_033027	NP_149016	Q96S65	CSRN1_HUMAN	Homo sapiens cysteine-serine-rich nuclear protein 1 (CSRNP1), mRNA.	10					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|skin(3)	24						TCCAGCTGGTCAAATTTCCTC	0.587													A	39188146	C	A	39188146	3	1	264	1	0	0	0	0	1	0	0	0	3996	826	29	4	1757	4	CSRNP1	3	39188146	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	5772981	39188146	158834284	13	18497											
C3orf15	89876	broad.mit.edu	37	chr3	119462994	119462994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagagagtggtcggcGccaggtggaaaaacagcgcc	11	4	17	9	3	0	2	0	1	0	1	1	4	0	3	2	5	2	1	2	5	3	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:119462994G>A	uc003ede.4	+	13	1930	c.1853G>A	c.(1852-1854)cGc>cAc	p.R618H	C3orf15_uc010hqz.3_Missense_Mutation_p.R556H|C3orf15_uc011bjd.2_Missense_Mutation_p.R492H|C3orf15_uc011bje.2_Missense_Mutation_p.R598H	NM_033364	NP_203528	Q7Z4T9	AAT1_HUMAN	Homo sapiens chromosome 3 open reading frame 15 (C3orf15), mRNA.	454						mitochondrion	protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.186)		AGTGGTCGGCGCCAGGTGGAA	0.592													A	119462994	G	A	119462994	3	1	264	1	0	0	0	0	1	0	0	0	2230	1087	38	1	1907	1	C3orf15	3	119462994	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	80274848	119462994	78559436	14	18498											
FAM194A	131831	broad.mit.edu	37	chr3	150387205	150387205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatttaccttgttgggCactcgaatgatggctaggtt	10	13	10	8	1	0	1	0	1	0	0	1	2	0	1	2	3	2	4	2	3	4	6			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr3:150387205C>T	uc003eyg.3	-	11	1434	c.1377G>A	c.(1375-1377)gtG>gtA	p.V459V	FAM194A_uc003eyh.3_Silent_p.V313V	NM_152394	NP_689607	Q7L0X2	F194A_HUMAN	Homo sapiens family with sequence similarity 194, member A (FAM194A), mRNA.	459										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCTTGTTGGGCACTCGAATGA	0.418													T	150387205	C	T	150387205	2	4	264	1	0	0	0	0	0	0	0	1	5573	697	25	2		2	FAM194A	3	150387205	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	30924211	150387205	47635225	15	18499											
ZNF718	152687	broad.mit.edu	37	chr4	86956	86956	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaagcttttaaccaatcctCaggccttattatacacagga	14	11	5	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	1	3	2	6	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:86956C>G	uc003fzv.1	+	5	1664	c.1508C>G	c.(1507-1509)tCa>tGa	p.S503*	ZNF718_uc003fzt.4_Intron|ZNF718_uc003fzu.1_Intron|ZNF718_uc011bus.1_Nonsense_Mutation_p.S289*|ZNF718_uc011but.1_Nonsense_Mutation_p.S289*	NM_182524	NP_872330	Q3SXZ3	ZN718_HUMAN	Homo sapiens zinc finger protein 595 (ZNF595), mRNA.	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0681)|Epithelial(2;0.0838)|all cancers(2;0.135)|LUSC - Lung squamous cell carcinoma(95;0.18)		AACCAATCCTCAGGCCTTATT	0.393													G	86956	C	G	86956	4	3	264	1	0	0	0	0	0	1	0	0	18221	827	29	4		4	ZNF718	4	86956	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		86956	191067320	16	18500											
KIT	3815	broad.mit.edu	37	chr4	55561742	55561742	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccatccaggaaaatcAgacttaatagtccgcgtggg	12	9	9	11	2	1	1	1	0	0	1	5	2	5	2	4	2	0	0	4	2	4	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:55561742A>G	uc010igr.3	+	1	219	c.132A>G	c.(130-132)tcA>tcG	p.S44S	KIT_uc010igs.3_Silent_p.S44S	NM_000222	NP_000213	P10721	KIT_HUMAN	Homo sapiens v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog (KIT), transcript variant 1, mRNA.	44	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGAAAATCAGACTTAATAG	0.468		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G	55561742	A	G	55561742	2	3	264	1	0	0	0	0	0	0	0	1	8387	175	7	3		3	KIT	4	55561742	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08	55474786	55561742	135592534	17	18501											
GUCY1A3	2982	broad.mit.edu	37	chr4	156634553	156634553	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttccctgtgaggttgctCagcagctgtggcaagggcaa	8	11	13	9	0	1	1	1	1	0	0	2	1	2	1	1	3	3	6	1	3	3	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:156634553C>T	uc003iov.3	+	7	1926	c.1390C>T	c.(1390-1392)Cag>Tag	p.Q464*	GUCY1A3_uc010iqc.2_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqd.3_Nonsense_Mutation_p.Q463*|GUCY1A3_uc003iow.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003iox.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc010iqe.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ioy.3_Nonsense_Mutation_p.Q464*|GUCY1A3_uc003ioz.3_Nonsense_Mutation_p.Q229*|GUCY1A3_uc003ipa.3_Intron|GUCY1A3_uc003ipb.3_Nonsense_Mutation_p.Q464*	NM_000856	NP_001124157	Q02108	GCYA3_HUMAN	Homo sapiens guanylate cyclase 1, soluble, alpha 3 (GUCY1A3), transcript variant 1, mRNA.	464					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TGAGGTTGCTCAGCAGCTGTG	0.522													T	156634553	C	T	156634553	4	4	264	1	0	0	0	0	0	1	0	0	6949	827	29	2	1423	2	GUCY1A3	4	156634553	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	101072811	156634553	34519723	18	18502											
NAF1	92345	broad.mit.edu	37	chr4	164050120	164050120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcagtggtggagggggagGgggtgggggtagggagtatg	7	6	27	1	0	0	0	0	0	0	0	0	3	0	3	0	10	0	3	0	10	2	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr4:164050120G>A	uc003iqj.3	-	7	1608	c.1414C>T	c.(1414-1416)Cct>Tct	p.P472S	NAF1_uc010iqw.1_Intron	NM_138386	NP_612395	Q96HR8	NAF1_HUMAN	Homo sapiens nuclear assembly factor 1 homolog (S. cerevisiae) (NAF1), transcript variant 1, mRNA.	472	Pro-rich.				rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				ggagggggagggggtgggggt	0.512													A	164050120	G	A	164050120	3	1	264	1	0	0	0	0	1	0	0	0	10216	1232	43	2	215	2	NAF1	4	164050120	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	7415567	164050120	27104156	19	18503											
SLC6A3	6531	broad.mit.edu	37	chr5	1422074	1422074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgtgagctgccaccGcggaggccccaggtcgtcga	6	5	16	14	4	0	1	0	1	0	0	2	3	0	2	4	4	2	3	4	4	0	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:1422074G>A	uc003jck.3	-	4	835	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W		NM_001044	NP_001035	Q01959	SC6A3_HUMAN	Homo sapiens solute carrier family 6 (neurotransmitter transporter, dopamine), member 3 (SLC6A3), mRNA.	237			R -> Q (in dbSNP:rs6345).		cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGCTGCCACCGCGGAGGCCCC	0.657													A	1422074	G	A	1422074	3	1	264	1	0	0	0	0	1	0	0	0	14779	1086	38	1	1197	1	SLC6A3	5	1422074	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		1422074	179493186	20	18504											
NPR3	4883	broad.mit.edu	37	chr5	32724903	32724903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgccttcttcaacattgAgctcttcaacagctcttcct	8	14	4	15	1	5	1	2	1	3	0	6	1	6	1	2	0	5	2	2	0	3	6			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:32724903A>G	uc003jhv.3	+	1	1314	c.869A>G	c.(868-870)gAg>gGg	p.E290G	NPR3_uc010iuo.3_Missense_Mutation_p.E74G|NPR3_uc003jhw.2_Missense_Mutation_p.E74G|NPR3_uc003jhu.3_Missense_Mutation_p.E290G	NM_001204375	NP_001191304	P17342	ANPRC_HUMAN	Homo sapiens natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C) (NPR3), transcript variant 1, mRNA.	290					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCAACATTGAGCTCTTCAAC	0.537													G	32724903	A	G	32724903	3	3	264	1	0	0	0	0	1	0	0	0	10672	304	11	3	875	3	NPR3	5	32724903	Missense_Mutation	SNP	A	TCGA-76-4934-01A-01D-1486-08	31302829	32724903	148190357	21	18505											
LYSMD3	116068	broad.mit.edu	37	chr5	89815175	89815175	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatgacgtgaagtctGtcttccttttggaggacaaa	12	12	11	6	1	2	4	0	3	2	1	3	6	3	6	1	2	0	0	1	2	3	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:89815175G>C	uc003kjr.3	-	2	530	c.382C>G	c.(382-384)Cag>Gag	p.Q128E	LYSMD3_uc010jaz.2_Intron|LYSMD3_uc003kjs.1_Missense_Mutation_p.T108R	NM_198273	NP_938014	Q7Z3D4	LYSM3_HUMAN	Homo sapiens LysM, putative peptidoglycan-binding, domain containing 3 (LYSMD3), mRNA.	128					cell wall macromolecule catabolic process	integral to membrane				breast(2)|large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	7		all_cancers(142;5.03e-09)|all_epithelial(76;1.23e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.94e-31)|Epithelial(54;5.22e-26)|all cancers(79;2.42e-22)		CGTGAAGTCTGTCTTCCTTTT	0.393													C	89815175	G	C	89815175	3	2	264	1	0	0	0	0	1	0	0	0	9197	1386	48	4	542	4	LYSMD3	5	89815175	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	57090272	89815175	91100085	22	18506											
DTWD2	285605	broad.mit.edu	37	chr5	118324199	118324199	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcgtgcctctttctgcGactccatggcggacactccg	4	12	11	14	4	2	0	0	0	2	0	5	2	4	1	3	2	2	1	3	2	0	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:118324199G>T	uc003ksa.3	-	0	42	c.8C>A	c.(7-9)tCg>tAg	p.S3*		NM_173666	NP_775937	Q8NBA8	DTWD2_HUMAN	Homo sapiens DTW domain containing 2 (DTWD2), mRNA.	3										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		CTCTTTCTGCGACTCCATGGC	0.706											OREG0016736	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118324199	G	T	118324199	4	4	264	1	0	0	0	0	0	1	0	0	4831	1059	37	4	912	4	DTWD2	5	118324199	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	28509024	118324199	62591061	23	18507											
PCDHAC2	56143	broad.mit.edu	37	chr5	140202968	140202968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagttccaggtgagcgcGcgcgacgcgggcgtgccgcc	4	5	17	15	8	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	0	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:140202968G>A	uc003lhl.2	+	0	1608	c.1608G>A	c.(1606-1608)gcG>gcA	p.A536A	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.A536A|PCDHAC2_uc003lhj.1_Silent_p.A536A	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	551	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGAGCGCGCGCGACGCGG	0.677													A	140202968	G	A	140202968	2	1	264	1	0	0	0	0	0	0	0	1	11609	1074	38	1		1	PCDHAC2	5	140202968	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	21878769	140202968	40712292	24	18508											
KIF4B	285643	broad.mit.edu	37	chr5	154393566	154393566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggtactgataaatccttCacctacgattttgtgtttga	9	17	8	7	1	1	2	1	2	0	0	2	3	2	2	2	1	2	3	2	1	4	8			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:154393566C>G	uc010jih.1	+	0	307	c.147C>G	c.(145-147)ttC>ttG	p.F49L		NM_001099293	NP_001092763	Q2VIQ3	KIF4B_HUMAN	Homo sapiens kinesin family member 4B (KIF4B), mRNA.	49	Kinesin-motor.				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATAAATCCTTCACCTACGATT	0.488													G	154393566	C	G	154393566	3	3	264	1	0	0	0	0	1	0	0	0	8362	825	29	4	149	4	KIF4B	5	154393566	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	14190598	154393566	26521694	25	18509											
STK10	6793	broad.mit.edu	37	chr5	171510086	171510086	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctctcggagttcctggCgcctgaaaggttaaaggata	11	9	13	8	2	1	1	0	1	1	0	3	4	2	3	2	4	1	3	2	4	5	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr5:171510086C>T	uc003mbo.1	-	10	1988	c.1688G>A	c.(1687-1689)cGc>cAc	p.R563H		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	563							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GAGTTCCTGGCGCCTGAAAGG	0.468													T	171510086	C	T	171510086	3	4	264	1	0	0	0	0	1	0	0	0	15382	768	27	1	1254	1	STK10	5	171510086	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	17116520	171510086	9405174	26	18510											
CAGE1	285782	broad.mit.edu	37	chr6	7370288	7370288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagattagaatgtgtcGtttttgtatcctacatgcac	10	14	10	7	1	0	2	0	0	0	2	2	3	1	3	1	1	3	4	1	1	4	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:7370288G>A	uc003mxl.2	-	5	2288	c.1757C>T	c.(1756-1758)aCg>aTg	p.T586M	CAGE1_uc003mxh.3_Non-coding_Transcript|CAGE1_uc021ylc.1_Missense_Mutation_p.T450M|CAGE1_uc003mxj.3_Missense_Mutation_p.T341M|CAGE1_uc003mxk.2_Missense_Mutation_p.T586M	NM_001170692	NP_001164163	Q8TC20	CAGE1_HUMAN	Homo sapiens cancer antigen 1 (CAGE1), transcript variant 1, mRNA.	586										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					AGAATGTGTCGTTTTTGTATC	0.378													A	7370288	G	A	7370288	3	1	264	1	0	0	0	0	1	0	0	0	2598	1145	40	1	904	1	CAGE1	6	7370288	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		7370288	163744779	27	18511											
TJAP1	93643	broad.mit.edu	37	chr6	43472961	43472961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccccgcaacagccccctgCccaactgcacttacgctacc	8	6	5	22	2	0	0	0	0	0	0	1	0	1	0	6	0	7	3	6	0	4	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr6:43472961C>T	uc003ovd.2	+	10	1418	c.1042C>T	c.(1042-1044)Ccc>Tcc	p.P348S	TJAP1_uc003ovf.2_Missense_Mutation_p.P338S|TJAP1_uc003ove.2_Missense_Mutation_p.P338S|TJAP1_uc003ovc.2_Missense_Mutation_p.P338S|TJAP1_uc010jyp.2_Missense_Mutation_p.P307S|TJAP1_uc011dvh.1_Missense_Mutation_p.P338S|TJAP1_uc003ovg.2_Missense_Mutation_p.P214S|TJAP1_uc011dvi.1_Missense_Mutation_p.P348S|TJAP1_uc011dvj.2_Missense_Mutation_p.P148S|TJAP1_uc003ovi.2_Missense_Mutation_p.P214S	NM_001146016	NP_001139489	Q5JTD0	TJAP1_HUMAN	Homo sapiens tight junction associated protein 1 (peripheral) (TJAP1), transcript variant 1, mRNA.	348						Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGCCCCCTGCCCAACTGCAC	0.652													T	43472961	C	T	43472961	3	4	264	1	0	0	0	0	1	0	0	0	16028	739	26	2	1072	2	TJAP1	6	43472961	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	36102673	43472961	127642106	28	18512											
POM121C	100101267	broad.mit.edu	37	chr7	75048122	75048122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggcctgcagtcgctgtCgagcccctggggtcttggat	3	11	15	12	3	1	0	0	0	1	0	4	2	1	1	3	4	2	2	3	4	0	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:75048122C>A	uc003udk.4	-	14	3806	c.2921G>T	c.(2920-2922)cGa>cTa	p.R974L		NM_001099415	NP_001092885	A8CG34	P121C_HUMAN	Homo sapiens POM121 membrane glycoprotein C (POM121C), mRNA.	1216	Pore side (Potential).				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						CAGTCGCTGTCGAGCCCCTGG	0.592													A	75048122	C	A	75048122	3	1	264	1	0	0	0	0	1	0	0	0	12317	884	31	4	46	4	POM121C	7	75048122	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		75048122	84090541	29	18513											
COL1A2	1278	broad.mit.edu	37	chr7	94040399	94040399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcgtggtgcaagtggccCtgctggagtccgaggaccta	7	9	15	10	2	0	0	0	0	0	0	2	3	1	2	3	4	2	2	3	4	3	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:94040399C>T	uc003ung.1	+	22	1754	c.1283C>T	c.(1282-1284)cCt>cTt	p.P428L	COL1A2_uc011kib.1_Intron	NM_000089	NP_000080	P08123	CO1A2_HUMAN	Homo sapiens collagen, type I, alpha 2 (COL1A2), mRNA.	428					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GCAAGTGGCCCTGCTGGAGTC	0.507										HNSCC(75;0.22)			T	94040399	C	T	94040399	3	4	264	1	0	0	0	0	1	0	0	0	3709	681	24	2	1373	2	COL1A2	7	94040399	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	18992277	94040399	65098264	30	18514											
FEZF1	389549	broad.mit.edu	37	chr7	121943310	121943310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactttgcaaacgaagggtCtggctcctgtgtgcactggc	8	10	12	11	1	1	0	0	0	1	0	2	1	2	0	1	3	3	3	1	3	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr7:121943310C>T	uc003vkd.3	-	1	931	c.857G>A	c.(856-858)aGa>aAa	p.R286K	FEZF1_uc003vkc.3_Missense_Mutation_p.R236K|LOC154860_uc010lko.2_5'Flank	NM_001024613	NP_001019784	A0PJY2	FEZF1_HUMAN	Homo sapiens FEZ family zinc finger 1 (FEZF1), transcript variant 1, mRNA.	286					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						AACGAAGGGTCTGGCTCCTGT	0.468													T	121943310	C	T	121943310	3	4	264	1	0	0	0	0	1	0	0	0	5874	913	32	2	582	2	FEZF1	7	121943310	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	27902911	121943310	37195353	31	18515											
FGL1	2267	broad.mit.edu	37	chr8	17726236	17726236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattccccaatattcaactcGtagaaattctaaagaaaaag	18	11	4	8	1	2	2	1	0	1	2	4	2	3	2	2	0	1	1	2	0	10	7	rs142240316		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:17726236G>A	uc003wye.3	-	8	1416	c.750C>T	c.(748-750)taC>taT	p.Y250Y	FGL1_uc003wxx.3_Silent_p.Y200Y|FGL1_uc003wxy.3_Silent_p.Y200Y|FGL1_uc003wya.3_Silent_p.Y200Y|FGL1_uc003wyb.3_Silent_p.Y200Y	NM_201553	NP_963847	Q08830	FGL1_HUMAN	Homo sapiens fibrinogen-like 1 (FGL1), transcript variant 4, mRNA.	200	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding	p.Y200Y(1)		NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TATTCAACTCGTAGAAATTCT	0.383													A	17726236	G	A	17726236	2	1	264	1	0	0	0	0	0	0	0	1	5921	1140	40	1		1	FGL1	8	17726236	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08		17726236	128637786	32	18516											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886046	88886046	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttcctctgcatgcagcTtacacgcagctcgcgagcta	7	12	8	14	3	1	0	0	0	1	0	3	1	2	0	1	0	6	6	1	0	2	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:88886046T>A	uc003ydz.3	-	0	251	c.154A>T	c.(154-156)Agc>Tgc	p.S52C		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	52										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TGCATGCAGCTTACACGCAGC	0.507													A	88886046	T	A	88886046	3	1	264	1	0	0	0	0	1	0	0	0	4306	1609	56	5	1037	5	DCAF4L2	8	88886046	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	71159810	88886046	57477976	33	18517											
LRRC24	441381	broad.mit.edu	37	chr8	145749853	145749853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaaggtgaaatccagcAgccgcgccagctggttgccc	10	5	13	13	2	0	2	0	1	0	1	1	2	1	2	4	2	4	4	4	2	3	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr8:145749853A>G	uc003zdm.3	-	2	542	c.410T>C	c.(409-411)cTg>cCg	p.L137P	LRRC14_uc003zdk.2_3'UTR|LRRC14_uc003zdl.2_3'UTR	NM_001024678	NP_001019849	Q50LG9	LRC24_HUMAN	Homo sapiens leucine rich repeat containing 24 (LRRC24), mRNA.	137						integral to membrane				breast(2)|endometrium(1)|kidney(1)|lung(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GAAATCCAGCAGCCGCGCCAG	0.662													G	145749853	A	G	145749853	3	3	264	1	0	0	0	0	1	0	0	0	9049	188	7	3	1143	3	LRRC24	8	145749853	Missense_Mutation	SNP	A	TCGA-76-4934-01A-01D-1486-08	56863807	145749853	614169	34	18518											
ANXA2	304	broad.mit.edu	37	chr9	33625120	33625120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgaagggcaaggggacGcgagataaggtcctgatcag	12	6	15	8	2	1	3	1	2	0	1	3	5	3	4	2	4	0	1	2	4	3	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:33625120G>A	uc010mjx.3	+	0	898	c.849G>A	c.(847-849)acG>acA	p.T283T	DJ439583_uc022bfp.1_5'Flank|DJ439557_uc022bfq.1_5'Flank|DJ439530_uc022bfr.1_5'Flank	NM_004039	NP_004030	P07355	ANXA2_HUMAN	Homo sapiens annexin A2 (ANXA2), transcript variant 3, mRNA.	283					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	GCAAGGGGACGCGAGATAAGG	0.483													A	33625120	G	A	33625120	2	1	264	1	0	0	0	0	0	0	0	1	718	1102	38	1		1	ANXA2	9	33625120	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08		33625120	107588311	35	18519											
NUP188	23511	broad.mit.edu	37	chr9	131752466	131752466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaacatgaccctgctttGccacgtcttgccattcagct	9	11	6	15	1	2	1	1	1	1	0	2	1	2	1	3	0	5	2	3	0	1	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:131752466G>T	uc004bws.1	+	24	2623	c.2601G>T	c.(2599-2601)ttG>ttT	p.L867F	NUP188_uc004bwu.3_Missense_Mutation_p.L210F	NM_015354	NP_056169	Q5SRE5	NU188_HUMAN	Homo sapiens nucleoporin 188kDa (NUP188), mRNA.	867					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCCTGCTTTGCCACGTCTTG	0.448													T	131752466	G	T	131752466	3	4	264	1	0	0	0	0	1	0	0	0	10834	1310	46	4	2699	4	NUP188	9	131752466	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	98127346	131752466	9460965	36	18520											
BRD3	8019	broad.mit.edu	37	chr9	136913570	136913570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgctttccgcttcacgcCctttttctgcgacagtgaaa	6	14	8	13	3	3	1	1	1	2	0	4	2	4	1	2	0	2	2	2	0	1	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr9:136913570C>T	uc004cew.3	-	5	909	c.721G>A	c.(721-723)Ggc>Agc	p.G241S	BRD3_uc004cex.2_Missense_Mutation_p.G241S	NM_007371	NP_031397	Q15059	BRD3_HUMAN	Homo sapiens bromodomain containing 3 (BRD3), mRNA.	241						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGCTTCACGCCCTTTTTCTGC	0.627			T	C15orf55	lethal midline carcinoma of young people								T	136913570	C	T	136913570	3	4	264	1	0	0	0	0	1	0	0	0	1512	623	22	2	1487	2	BRD3	9	136913570	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	5161104	136913570	4299861	37	18521											
SLC39A12	221074	broad.mit.edu	37	chr10	18276538	18276538	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtttgtgggcttggccgtCgggacactgtctggggacgc	3	11	17	10	3	1	0	0	0	1	0	2	2	1	2	1	5	0	2	1	5	0	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:18276538C>T	uc001ipo.2	+	6	1500	c.1227C>T	c.(1225-1227)gtC>gtT	p.V409V	SLC39A12_uc001ipn.2_Silent_p.V409V|SLC39A12_uc001ipp.2_Silent_p.V409V|SLC39A12_uc010qck.1_Silent_p.V275V	NM_001145195	NP_001138667	Q504Y0	S39AC_HUMAN	Homo sapiens solute carrier family 39 (zinc transporter), member 12 (SLC39A12), transcript variant 1, mRNA.	409					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	p.A408A(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						GCTTGGCCGTCGGGACACTGT	0.502													T	18276538	C	T	18276538	2	4	264	1	0	0	0	0	0	0	0	1	14709	871	31	1		1	SLC39A12	10	18276538	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08		18276538	117258209	38	18522											
C10orf140	387640	broad.mit.edu	37	chr10	21805467	21805469	+	In_Frame_Del	DEL	CCT	CCT	-																															atccgaggccccgctgccccCctcctcctcctcttcctcct																										TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:21805467_21805469delCCT	uc009xkd.3	-	3	3536_3538	c.1283_1285delAGG	c.(1282-1287)gagggg>ggg	p.E428del	AK055656_uc001iqp.1_Non-coding_Transcript|C10orf140_uc021pnx.1_In_Frame_Del_p.E428del	NM_207371	NP_997254	Q1XH10	DLN1_HUMAN	Homo sapiens chromosome 10 open reading frame 140 (C10orf140), mRNA.	347						nucleus	nucleotide binding	p.E428_G429insEE(3)		kidney(1)|large_intestine(8)|lung(9)|ovary(1)|soft_tissue(1)|urinary_tract(1)	21						CCGCTGCccccctcctcctcctc	0.616													-	21805469	CCT	-	21805467	7	5	264	1	0	1	0	1	0	0	0	0	1606	623	22	0	1445	0	C10orf140	10	21805467	In_Frame_Del	DEL	CCT	TCGA-76-4934-01A-01D-1486-08	3528929	21805467	113729280	39	18523											
SVIL	6840	broad.mit.edu	37	chr10	29784039	29784039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccaggggtttggaaaCgggtgtggtgcctcttgttt	5	14	14	8	1	1	0	0	0	1	0	2	1	2	1	3	5	2	2	3	5	1	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:29784039C>T	uc001iut.1	-	18	4489	c.3736G>A	c.(3736-3738)Gtt>Att	p.V1246I	SVIL_uc010qdw.1_Missense_Mutation_p.V160I|SVIL_uc001iuu.1_Missense_Mutation_p.V820I|SVIL_uc009xlc.2_Missense_Mutation_p.V38I	NM_021738	NP_068506	O95425	SVIL_HUMAN	Homo sapiens supervillin (SVIL), transcript variant 2, mRNA.	1246					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGTTTGGAAACGGGTGTGGTG	0.552													T	29784039	C	T	29784039	3	4	264	1	0	0	0	0	1	0	0	0	15517	536	19	1	2988	1	SVIL	10	29784039	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	7978572	29784039	105750708	40	18524											
PTEN	5728	broad.mit.edu	37	chr10	89692778	89692778	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaccacagttgcacaaTatccttttgaagaccataac	13	14	4	10	0	0	2	0	1	0	1	1	2	1	2	3	0	3	2	3	0	5	8			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr10:89692778T>C	uc001kfb.3	+	4	1294	c.262T>C	c.(262-264)Tat>Cat	p.Y88H	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	88	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y88C(9)|p.?(5)|p.R55fs*1(5)|p.Y88N(2)|p.Y27fs*1(2)|p.Y88H(2)|p.Y88fs*3(2)|p.Q87_P96del(2)|p.N82_P95del(2)|p.Y27_N212>Y(2)|p.Y88S(1)|p.F56fs*2(1)|p.Q87*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGTTGCACAATATCCTTTTGA	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692778	T	C	89692778	3	2	264	1	0	0	0	0	1	0	0	0	12823	1406	49	3	280	3	PTEN	10	89692778	Missense_Mutation	SNP	T	TCGA-76-4934-01A-01D-1486-08	59908739	89692778	45841969	41	18525											
OR52E8	390079	broad.mit.edu	37	chr11	5878741	5878741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggccaggaagtagtacatAggctcatggagactctgctc	11	9	12	9	0	2	1	1	0	1	1	3	3	2	2	1	4	2	4	1	4	4	3	rs147064631		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878741A>G	uc010qzr.2	-	0	192	c.192T>C	c.(190-192)ccT>ccC	p.P64P	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGTAGTACATAGGCTCATGGA	0.458													G	5878741	A	G	5878741	2	3	264	1	0	0	0	0	0	0	0	1	11194	407	15	3		3	OR52E8	11	5878741	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08		5878741	129127775	42	18526			1	41		2	2	25	N	C_A	5.426781e-05
OR52E8	390079	broad.mit.edu	37	chr11	5878765	5878765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatggagactctgctcagtCtggatcacaaacaagagagc	13	8	10	10	0	5	2	3	0	2	2	5	5	5	3	0	2	3	1	0	2	2	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:5878765C>T	uc010qzr.2	-	0	168	c.168G>A	c.(166-168)caG>caA	p.Q56Q	TRIM5_uc001mbq.1_Intron	NM_001005168	NP_001005168	Q6IFG1	O52E8_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 8 (OR52E8), mRNA.	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTGCTCAGTCTGGATCACAA	0.483													T	5878765	C	T	5878765	2	4	264	1	0	0	0	0	0	0	0	1	11194	912	32	2		2	OR52E8	11	5878765	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	24	5878765	129127751	43	18527			1	41		2	2	25	N	C_A	5.426781e-05
SYT12	91683	broad.mit.edu	37	chr11	66797643	66797643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtggcagaataccatCtgagcggtgagtgcccaggg	9	8	16	8	1	1	3	0	2	1	1	1	4	1	4	2	4	3	1	2	4	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr11:66797643C>A	uc009yrl.3	+	1	258	c.28C>A	c.(28-30)Ctg>Atg	p.L10M	SYT12_uc001oju.3_Missense_Mutation_p.L10M	NM_001177880	NP_808878	Q8IV01	SYT12_HUMAN	Homo sapiens synaptotagmin XII (SYT12), transcript variant 2, mRNA.	10						cell junction|integral to membrane|synaptic vesicle membrane				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	20						AGAATACCATCTGAGCGGTGA	0.567													A	66797643	C	A	66797643	3	1	264	1	0	0	0	0	1	0	0	0	15565	912	32	4	30	4	SYT12	11	66797643	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	60918878	66797643	68208873	44	18528											
KDM5A	5927	broad.mit.edu	37	chr12	416979	416979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggaacttgatttaggaaGaggaacacagctgttatgga	13	11	13	4	0	0	2	0	1	0	1	0	6	0	6	0	4	3	2	0	4	5	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:416979G>A	uc001qif.1	-	22	3934	c.3571C>T	c.(3571-3573)Ctt>Ttt	p.L1191F		NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1191					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.P1190S(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GATTTAGGAAGAGGAACACAG	0.443			T	NUP98	AML								A	416979	G	A	416979	3	1	264	1	0	0	0	0	1	0	0	0	8191	942	33	2	1525	2	KDM5A	12	416979	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		416979	133434916	45	18529											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6442637	6442637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttcctgcagccacacacgGtgtcccggtccactgtgcaa	7	9	9	16	2	1	0	0	0	1	0	4	0	4	0	4	2	3	2	4	2	1	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:6442637G>T	uc001qnu.3	-	3	671	c.368C>A	c.(367-369)aCc>aAc	p.T123N	TNFRSF1A_uc001qnt.3_Missense_Mutation_p.T15N|TNFRSF1A_uc010sey.2_Intron|TNFRSF1A_uc010sez.2_Missense_Mutation_p.T15N|TNFRSF1A_uc009zek.3_Missense_Mutation_p.T80N|TNFRSF1A_uc010sfa.2_Missense_Mutation_p.T123N	NM_001065	NP_001056	P19438	TNR1A_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 1A (TNFRSF1A), mRNA.	123					apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						GCCACACACGGTGTCCCGGTC	0.552													T	6442637	G	T	6442637	3	4	264	1	0	0	0	0	1	0	0	0	16393	1261	44	4	1027	4	TNFRSF1A	12	6442637	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	6025658	6442637	127409258	46	18530											
ART4	420	broad.mit.edu	37	chr12	14993552	14993552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacccaggcaggtgaatatgGtaaatagtgtctggttccca	11	10	11	9	0	1	1	0	1	1	0	2	1	2	1	2	4	0	3	2	4	5	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:14993552G>A	uc001rcl.1	-	1	1046	c.680C>T	c.(679-681)aCc>aTc	p.T227I	ART4_uc009zid.1_Intron|ART4_uc009zie.1_Intron|ART4_uc001rcm.1_Missense_Mutation_p.T227I	NM_021071	NP_066549	Q93070	NAR4_HUMAN	Homo sapiens ADP-ribosyltransferase 4 (Dombrock blood group) (ART4), mRNA.	227					arginine metabolic process|protein ADP-ribosylation	anchored to membrane|plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			large_intestine(5)|liver(1)|lung(3)|prostate(1)|skin(2)|stomach(3)	15						GGTGAATATGGTAAATAGTGT	0.463													A	14993552	G	A	14993552	3	1	264	1	0	0	0	0	1	0	0	0	1004	1261	44	2	272	2	ART4	12	14993552	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	8550915	14993552	118858343	47	18531											
KRT73	319101	broad.mit.edu	37	chr12	53011874	53011874	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacccaccttgtcaatgaaGgaggcgaacttgttgttcag	11	10	11	9	1	2	2	2	1	0	1	2	4	2	3	2	2	1	2	2	2	3	4			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:53011874G>A	uc001sas.3	-	0	470	c.435C>T	c.(433-435)tcC>tcT	p.S145S		NM_175068	NP_778238	Q86Y46	K2C73_HUMAN	Homo sapiens keratin 73 (KRT73), mRNA.	145	Coil 1A.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGTCAATGAAGGAGGCGAACT	0.547													A	53011874	G	A	53011874	2	1	264	1	0	0	0	0	0	0	0	1	8544	987	35	2		2	KRT73	12	53011874	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	38018322	53011874	80840021	48	18532											
LRP1	4035	broad.mit.edu	37	chr12	57581169	57581169	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccgcccaggggccttcGagcgtgagaccgtcatcact	8	6	12	15	4	2	2	2	1	0	2	3	4	2	2	4	2	1	0	4	2	0	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:57581169G>T	uc001snd.3	+	41	7427	c.6961G>T	c.(6961-6963)Gag>Tag	p.E2321*		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2321					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGGGGCCTTCGAGCGTGAGAC	0.607													T	57581169	G	T	57581169	4	4	264	1	0	0	0	0	0	1	0	0	9021	1059	37	4	7127	4	LRP1	12	57581169	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	4569295	57581169	76270726	49	18533											
LRIG3	121227	broad.mit.edu	37	chr12	59274532	59274532	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcataattttccatttcAgcatcatgcagtagttcatt	10	17	6	8	0	3	0	3	0	0	0	4	0	4	0	1	0	3	5	1	0	2	7			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr12:59274532A>G	uc001sqr.3	-	12	1878	c.1632T>C	c.(1630-1632)gcT>gcC	p.A544A	LRIG3_uc009zqh.3_Silent_p.A484A|LRIG3_uc010ssh.2_Non-coding_Transcript	NM_153377	NP_700356	Q6UXM1	LRIG3_HUMAN	Homo sapiens leucine-rich repeats and immunoglobulin-like domains 3 (LRIG3), transcript variant 2, mRNA.	544	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			TTTCCATTTCAGCATCATGCA	0.488			T	ROS1	NSCLC								G	59274532	A	G	59274532	2	3	264	1	0	0	0	0	0	0	0	1	9016	175	7	3		3	LRIG3	12	59274532	Silent	SNP	A	TCGA-76-4934-01A-01D-1486-08	1693363	59274532	74577363	50	18534											
TPTE2	93492	broad.mit.edu	37	chr13	20039688	20039688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataataagtcgtagaagtcGaactaaatgtgtccatctaa	17	11	7	6	2	1	1	0	0	1	1	4	2	2	1	1	0	1	1	1	0	9	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20039688G>A	uc001umd.3	-	8	740	c.529C>T	c.(529-531)Cga>Tga	p.R177*	TPTE2_uc009zzk.3_Non-coding_Transcript|TPTE2_uc009zzl.3_Nonsense_Mutation_p.R66*|TPTE2_uc001ume.3_Nonsense_Mutation_p.R100*|TPTE2_uc009zzm.3_5'UTR|TPTE2_uc010tcm.2_Non-coding_Transcript	NM_199254	NP_954863	Q6XPS3	TPTE2_HUMAN	Homo sapiens transmembrane phosphoinositide 3-phosphatase and tensin homolog 2 (TPTE2), transcript variant 3, mRNA.	177						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTAGAAGTCGAACTAAATGT	0.313													A	20039688	G	A	20039688	4	1	264	1	0	0	0	0	0	1	0	0	16532	1066	37	1	1091	1	TPTE2	13	20039688	Nonsense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		20039688	95130190	51	18535											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20235946	20235946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacggtcggcagaagaacGggaccaccgccctcattcat	11	6	11	13	4	2	3	2	1	0	2	3	4	2	4	3	3	2	1	3	3	3	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:20235946G>A	uc001umh.3	+	7	2001	c.1900G>A	c.(1900-1902)Ggg>Agg	p.G634R	MPHOSPH8_uc001umg.3_Missense_Mutation_p.G634R	NM_017520	NP_059990	Q99549	MPP8_HUMAN	Homo sapiens M-phase phosphoprotein 8 (MPHOSPH8), mRNA.	634					cell cycle	cytoplasm|nucleus				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GCAGAAGAACGGGACCACCGC	0.552													A	20235946	G	A	20235946	3	1	264	1	0	0	0	0	1	0	0	0	9803	1116	39	1	1930	1	MPHOSPH8	13	20235946	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	196258	20235946	94933932	52	18536											
NALCN	259232	broad.mit.edu	37	chr13	101728226	101728226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttaacaatgtacttacatGttttccacagatggagaaaa	15	13	6	7	0	1	2	0	0	1	2	2	3	2	2	1	1	3	2	1	1	6	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr13:101728226G>A	uc001vox.1	-	34	4141	c.3952C>T	c.(3952-3954)Cat>Tat	p.H1318Y		NM_052867	NP_443099	Q8IZF0	NALCN_HUMAN	Homo sapiens sodium leak channel, non-selective (NALCN), mRNA.	1318						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTACTTACATGTTTTCCACAG	0.323													A	101728226	G	A	101728226	3	1	264	1	0	0	0	0	1	0	0	0	10224	1377	48	2	1304	2	NALCN	13	101728226	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	81492280	101728226	13441652	53	18537											
BATF	10538	broad.mit.edu	37	chr14	76012841	76012841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacagaacgcggctctaCgcaaggagatcaagcagctc	15	4	11	11	3	2	3	1	0	1	3	3	4	2	3	0	2	5	4	0	2	5	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr14:76012841C>T	uc001xrr.3	+	2	447	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C		NM_006399	NP_006390	Q16520	BATF_HUMAN	Homo sapiens basic leucine zipper transcription factor, ATF-like (BATF), mRNA.	69	Leucine-zipper.					nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		CGCGGCTCTACGCAAGGAGAT	0.612													T	76012841	C	T	76012841	3	4	264	1	0	0	0	0	1	0	0	0	1330	536	19	1	215	1	BATF	14	76012841	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		76012841	31336699	54	18538											
HEATR3	55027	broad.mit.edu	37	chr16	50112858	50112858	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggggatgatttgattgaaGatgatgaaatggaaggaatt	15	12	14	0	0	0	6	0	5	0	1	0	9	0	9	0	4	0	0	0	4	4	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:50112858G>C	uc002efw.3	+	6	1132	c.970G>C	c.(970-972)Gat>Cat	p.D324H	HEATR3_uc021thv.1_Missense_Mutation_p.D238H|HEATR3_uc002efx.3_Missense_Mutation_p.D238H	NM_182922	NP_891552	Q7Z4Q2	HEAT3_HUMAN	Homo sapiens HEAT repeat containing 3 (HEATR3), mRNA.	324							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTTGATTGAAGATGATGAAAT	0.368													C	50112858	G	C	50112858	3	2	264	1	0	0	0	0	1	0	0	0	7084	942	33	4	996	4	HEATR3	16	50112858	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		50112858	40241895	55	18539											
SLC12A3	6559	broad.mit.edu	37	chr16	56904089	56904089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattttcgctttcgccaatgCcgtgggtgtggccatgcaca	6	12	11	12	3	0	0	0	0	0	0	2	0	0	0	3	2	2	2	3	2	1	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:56904089C>T	uc002ekd.4	+	4	712	c.683C>T	c.(682-684)gCc>gTc	p.A228V	SLC12A3_uc010ccm.3_Missense_Mutation_p.A228V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A227V	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	228					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCGCCAATGCCGTGGGTGTG	0.662													T	56904089	C	T	56904089	3	4	264	1	0	0	0	0	1	0	0	0	14478	739	26	2	701	2	SLC12A3	16	56904089	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	6791231	56904089	33450664	56	18540											
ZC3H18	124245	broad.mit.edu	37	chr16	88688690	88688690	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaaggacccttggcgcCgatccaagtctcccaagaag	11	6	12	12	2	1	1	0	0	1	1	3	4	2	3	4	3	0	0	4	3	4	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr16:88688690C>T	uc010voz.2	+	9	1833	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	ZC3H18_uc002fky.3_Nonsense_Mutation_p.R521*|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	521	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding	p.R521*(1)		endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		CCCTTGGCGCCGATCCAAGTC	0.602													T	88688690	C	T	88688690	4	4	264	1	0	0	0	0	0	1	0	0	17669	644	23	1	1591	1	ZC3H18	16	88688690	Nonsense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	31784601	88688690	1666063	57	18541											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:7577120C>T	uc002gim.2	-	7	1012	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Missense_Mutation_p.R273H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R141H|TP53_uc010cnf.1_Missense_Mutation_p.R141H|TP53_uc002gii.1_Missense_Mutation_p.R141H|TP53_uc010cni.1_Missense_Mutation_p.R273H|TP53_uc010cnh.1_Missense_Mutation_p.R273H|TP53_uc002gij.2_Missense_Mutation_p.R273H|DL476366_uc021tpf.1_5'Flank|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(1040)|p.R273C(471)|p.R273L(185)|p.V272M(75)|p.R273P(63)|p.V272L(26)|p.R273S(15)|p.R273G(9)|p.V272E(8)|p.0?(8)|p.V272A(7)|p.V272G(5)|p.R273fs*72(4)|p.V272fs*73(4)|p.V272V(4)|p.R273fs*33(3)|p.R273fs*32(3)|p.R273_C275delRVC(2)|p.R273fs*71(2)|p.E271_R273delEVR(2)|p.?(2)|p.L265_K305del41(2)|p.F270_D281del12(2)|p.V272_K292del21(2)|p.R273R(1)|p.E258fs*71(1)|p.S269fs*21(1)|p.V272>?(1)|p.V272fs*34(1)|p.V272fs*74(1)|p.R273*(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	264	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08		7577120	73618090	58	18542											
KRT16	3868	broad.mit.edu	37	chr17	39766792	39766792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctccaggctgttctcCagggatgctttctgcaagtg	5	13	11	12	0	3	0	0	0	3	0	6	1	4	1	3	2	2	4	3	2	1	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr17:39766792C>T	uc002hxg.4	-	5	1210	c.1071G>A	c.(1069-1071)ctG>ctA	p.L357L	JUP_uc010wfs.2_Intron	NM_005557	NP_005548	P08779	K1C16_HUMAN	Homo sapiens keratin 16 (KRT16), mRNA.	357	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GGCTGTTCTCCAGGGATGCTT	0.557													T	39766792	C	T	39766792	2	4	264	1	0	0	0	0	0	0	0	1	8511	581	21	2		2	KRT16	17	39766792	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08	32189672	39766792	41428418	59	18543											
NDC80	10403	broad.mit.edu	37	chr18	2610820	2610820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggaaataacttgcaacGtctgttagagatggttgcta	12	12	12	5	1	1	1	0	0	1	1	1	3	1	2	0	2	4	4	0	2	5	5	rs144795559		TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr18:2610820G>A	uc002kli.3	+	15	1933	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H		NM_006101	NP_006092	O14777	NDC80_HUMAN	Homo sapiens NDC80 kinetochore complex component homolog (S. cerevisiae) (NDC80), mRNA.	584	Interaction with NEK2 and ZWINT.|Interaction with the C-terminus of CDCA1 and the SPBC24-SPBC25 subcomplex.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						AACTTGCAACGTCTGTTAGAG	0.373													A	2610820	G	A	2610820	3	1	264	1	0	0	0	0	1	0	0	0	10318	1145	40	1	1809	1	NDC80	18	2610820	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		2610820	75466428	60	18544											
PCSK4	54760	broad.mit.edu	37	chr19	1482471	1482471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgtagcggtacaacGtccctggacaggggtcgcgg	7	6	17	11	5	0	0	0	0	0	0	2	1	1	1	1	5	4	3	1	5	3	2			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:1482471G>A	uc002ltb.1	-	13	1762	c.1700C>T	c.(1699-1701)aCg>aTg	p.T567M	PCSK4_uc002lsz.2_Missense_Mutation_p.T54M|PCSK4_uc002lta.2_Silent_p.D337D	NM_017573	NP_060043	Q6UW60	PCSK4_HUMAN	Homo sapiens proprotein convertase subtilisin/kexin type 4 (PCSK4), mRNA.	567					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GCGGTACAACGTCCCTGGACA	0.687													A	1482471	G	A	1482471	3	1	264	1	0	0	0	0	1	0	0	0	11678	1145	40	1	575	1	PCSK4	19	1482471	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		1482471	57646512	61	18545											
GPATCH1	55094	broad.mit.edu	37	chr19	33579113	33579113	+	Frame_Shift_Del	DEL	C	C	-																															aaaggaaggtataaacgattCcacggggcctttagtggagg																										TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:33579113delC	uc002nug.1	+	1	461	c.147delC	c.(145-147)ttcfs	p.F49fs		NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	49						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					ATAAACGATTCCACGGGGCCT	0.358													-	33579113	C	-	33579113	7	5	264	1	0	1	0	1	0	0	0	0	6644	854	30	0	153	0	GPATCH1	19	33579113	Frame_Shift_Del	DEL	C	TCGA-76-4934-01A-01D-1486-08	32096642	33579113	25549870	62	18546											
PSG11	5680	broad.mit.edu	37	chr19	43523198	43523198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gatggagggcttgggagtctCcactgtgcagaaaacagaga	12	7	15	7	0	1	2	0	0	1	2	2	6	1	4	1	3	2	2	1	3	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr19:43523198C>G	uc002ovm.1	-	2	540	c.433G>C	c.(433-435)Gag>Cag	p.E145Q	PSG4_uc010xwk.1_Intron|PSG11_uc002ovp.1_Missense_Mutation_p.E23Q|PSG11_uc002ovo.1_Missense_Mutation_p.E23Q	NM_002785	NP_002776	Q9UQ72	PSG11_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 11 (PSG11), transcript variant 1, mRNA.	145					female pregnancy	extracellular region		p.E145*(3)|p.L144M(1)|p.L144L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				TTGGGAGTCTCCACTGTGCAG	0.507													G	43523198	C	G	43523198	3	3	264	1	0	0	0	0	1	0	0	0	12739	864	30	4	586	4	PSG11	19	43523198	Missense_Mutation	SNP	C	TCGA-76-4934-01A-01D-1486-08	9944085	43523198	15605785	63	18547											
CD40	958	broad.mit.edu	37	chr20	44750990	44750990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaccagcacaaatactgCgaccccagtgcgtgcgctgt	9	7	10	15	3	0	0	0	0	0	0	0	1	0	0	4	0	6	2	4	0	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr20:44750990C>T	uc002xrg.1	+	2	326	c.249C>T	c.(247-249)tgC>tgT	p.C83C	CD40_uc002xrf.1_Silent_p.C83C|CD40_uc002xrh.1_Silent_p.C83C|CD40_uc002xrj.1_Non-coding_Transcript|CD40_uc002xrk.1_Non-coding_Transcript	NM_001250	NP_001241	P25942	TNR5_HUMAN	Homo sapiens CD40 molecule, TNF receptor superfamily member 5 (CD40), transcript variant 1, mRNA.	83			C -> R (in HIGM3; dbSNP:rs28931586).		B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity	p.Y82H(1)		endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	ACAAATACTGCGACCCCAGTG	0.527									Immune Deficiency with Hyper-IgM				T	44750990	C	T	44750990	2	4	264	1	0	0	0	0	0	0	0	1	3045	776	27	1		1	CD40	20	44750990	Silent	SNP	C	TCGA-76-4934-01A-01D-1486-08		44750990	18274530	64	18548											
ALG12	79087	broad.mit.edu	37	chr22	50307405	50307405	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctgatgaccccttTccagccattccaggctttca	6	11	7	17	1	1	2	1	2	0	0	3	2	3	2	7	1	2	1	7	1	0	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chr22:50307405T>C	uc003biy.3	-	1	283	c.9A>G	c.(7-9)ggA>ggG	p.G3G		NM_024105	NP_077010	Q9BV10	ALG12_HUMAN	Homo sapiens asparagine-linked glycosylation 12, alpha-1,6-mannosyltransferase homolog (S. cerevisiae) (ALG12), mRNA.	3					dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ATGACCCCTTTCCAGCCATTC	0.597													C	50307405	T	C	50307405	2	2	264	1	0	0	0	0	0	0	0	1	514	1770	62	3		3	ALG12	22	50307405	Silent	SNP	T	TCGA-76-4934-01A-01D-1486-08		50307405	997161	65	18549											
ARSE	415	broad.mit.edu	37	chrX	2867360	2867360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaccttttgagaaaggacGcaacctcctgcagaataagg	13	8	10	10	1	0	3	0	2	0	2	1	5	1	4	3	2	2	2	3	2	4	3			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:2867360G>A	uc011mhh.2	-	6	1375	c.914C>T	c.(913-915)gCg>gTg	p.A305V	ARSE_uc011mhi.2_Missense_Mutation_p.A226V|ARSE_uc004crc.4_Missense_Mutation_p.A280V			P51690	ARSE_HUMAN	Homo sapiens arylsulfatase E (chondrodysplasia punctata 1) (ARSE), mRNA.	280					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GAGAAAGGACGCAACCTCCTG	0.488													A	2867360	G	A	2867360	3	1	264	1	0	0	0	0	1	0	0	0	995	1087	38	1	954	1	ARSE	23	2867360	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08		2867360	152403200	66	18550											
CACNA1F	778	broad.mit.edu	37	chrX	49065814	49065814	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcacaggtgagggcctgccGcatctcaggacccaagtcct	8	7	12	14	1	2	1	2	1	1	0	4	2	3	2	4	3	1	1	4	3	1	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:49065814G>T	uc004dnb.3	-	41	4956	c.4894C>A	c.(4894-4896)Cgg>Agg	p.R1632R	CACNA1F_uc010nip.3_Silent_p.R1621R	NM_005183	NP_005174	O60840	CAC1F_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1F subunit (CACNA1F), mRNA.	1632					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	AGGGCCTGCCGCATCTCAGGA	0.572													T	49065814	G	T	49065814	2	4	264	1	0	0	0	0	0	0	0	1	2569	1086	38	4		4	CACNA1F	23	49065814	Silent	SNP	G	TCGA-76-4934-01A-01D-1486-08	46198454	49065814	106204746	67	18551											
STARD8	9754	broad.mit.edu	37	chrX	67937331	67937331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcctcagccccacccaggGccaggagggtccccaggaca	8	3	11	19	0	1	0	1	0	0	0	3	2	3	2	8	4	1	0	8	4	0	0			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:67937331G>A	uc004dxb.3	+	5	789	c.575G>A	c.(574-576)gGc>gAc	p.G192D	STARD8_uc004dxa.3_Missense_Mutation_p.G112D|STARD8_uc004dxc.4_Missense_Mutation_p.G112D	NM_001142503	NP_055540	Q92502	STAR8_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 8 (STARD8), transcript variant 1, mRNA.	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CCCACCCAGGGCCAGGAGGGT	0.637													A	67937331	G	A	67937331	3	1	264	1	0	0	0	0	1	0	0	0	15359	1203	42	2	597	2	STARD8	23	67937331	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	18871517	67937331	87333229	68	18552											
CXorf57	55086	broad.mit.edu	37	chrX	105855563	105855563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttagaggatgagccacgcGacacggtgcccaagcctccc	9	6	12	14	3	0	2	0	1	0	1	1	4	1	3	4	2	3	1	4	2	2	1			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:105855563G>A	uc004emi.4	+	0	404	c.253G>A	c.(253-255)Gac>Aac	p.D85N	CXorf57_uc004emj.4_Missense_Mutation_p.D85N|CXorf57_uc004emh.2_Missense_Mutation_p.D85N	NM_018015	NP_060485	Q6NSI4	CX057_HUMAN	Homo sapiens chromosome X open reading frame 57 (CXorf57), transcript variant 1, mRNA.	85										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TGAGCCACGCGACACGGTGCC	0.572													A	105855563	G	A	105855563	3	1	264	1	0	0	0	0	1	0	0	0	4146	1058	37	1	255	1	CXorf57	23	105855563	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	37918232	105855563	49414997	69	18553											
ZNF280C	55609	broad.mit.edu	37	chrX	129354388	129354388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtacgatgctgcgccttatGttcagctttctccttgctgg	4	16	10	11	2	2	0	1	0	1	0	3	1	2	0	2	1	5	5	2	1	2	5			TCGA-76-4934-01A-01D-1486-08	TCGA-76-4934-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e9bc4701-562e-4d35-a949-53a61fd96651	1e7fd821-8432-49f0-82a4-2423b216c9c4	g.chrX:129354388G>A	uc004evm.3	-	12	1665	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	ZNF280C_uc010nrf.2_Missense_Mutation_p.H439Y	NM_017666	NP_060136	Q8ND82	Z280C_HUMAN	Homo sapiens zinc finger protein 280C (ZNF280C), mRNA.	488					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGCGCCTTATGTTCAGCTTTC	0.383													A	129354388	G	A	129354388	3	1	264	1	0	0	0	0	1	0	0	0	17917	1377	48	2	779	2	ZNF280C	23	129354388	Missense_Mutation	SNP	G	TCGA-76-4934-01A-01D-1486-08	23498825	129354388	25916172	70	18554											
AADACL4	343066	broad.mit.edu	37	chr1	12726232	12726232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgccatcctttcagcAgaaccaaaatgtcccattac	12	10	6	13	0	1	1	1	0	0	1	3	1	3	1	4	0	4	3	4	0	4	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:12726232A>G	uc001auf.3	+	3	710	c.710A>G	c.(709-711)cAg>cGg	p.Q237R		NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN	Homo sapiens arylacetamide deacetylase-like 4 (AADACL4), mRNA.	237						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TCCTTTCAGCAGAACCAAAAT	0.517													G	12726232	A	G	12726232	3	3	265	1	0	0	0	0	1	0	0	0	13	188	7	3	724	3	AADACL4	1	12726232	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		12726232	236524389	1	18555											
C1orf173	127254	broad.mit.edu	37	chr1	75038917	75038917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggatctcccttttttctGtaaactcttctgccaattct	7	17	6	11	0	5	0	0	0	5	0	6	2	5	1	2	1	2	1	2	1	3	6			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:75038917G>C	uc001dgg.3	-	13	2696	c.2477C>G	c.(2476-2478)aCa>aGa	p.T826R		NM_001002912	NP_001002912	Q5RHP9	CA173_HUMAN	Homo sapiens chromosome 1 open reading frame 173 (C1orf173), mRNA.	826	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTTTTTTCTGTAAACTCTTC	0.582													C	75038917	G	C	75038917	3	2	265	1	0	0	0	0	1	0	0	0	2034	1377	48	4	2119	4	C1orf173	1	75038917	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	62312685	75038917	174211704	2	18556											
MAGI3	260425	broad.mit.edu	37	chr1	114215328	114215328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgcacagcctgacaccGcagtaatttcagttgtaggc	10	10	9	12	1	1	1	1	1	0	0	1	1	1	1	3	1	2	5	3	1	2	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:114215328G>A	uc001edk.3	+	17	3191	c.3010G>A	c.(3010-3012)Gca>Aca	p.A1004T	MAGI3_uc001edh.3_Missense_Mutation_p.A1029T|MAGI3_uc001edi.4_Missense_Mutation_p.A1004T|MAGI3_uc010owm.2_Missense_Mutation_p.A1029T|MAGI3_uc001edj.3_Missense_Mutation_p.A725T	NM_001142782	NP_001136254	Q5TCQ9	MAGI3_HUMAN	Homo sapiens membrane associated guanylate kinase, WW and PDZ domain containing 3 (MAGI3), transcript variant 1, mRNA.	1029					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding	p.T1003T(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCCTGACACCGCAGTAATTTC	0.458													A	114215328	G	A	114215328	3	1	265	1	0	0	0	0	1	0	0	0	9267	1087	38	1	3080	1	MAGI3	1	114215328	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	39176411	114215328	135035293	3	18557											
MTMR11	10903	broad.mit.edu	37	chr1	149906114	149906114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgaacctctcgttgaccGtgctgaccctccagcctctg	5	10	9	17	4	2	2	0	2	2	0	5	3	3	2	5	0	3	2	5	0	1	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:149906114G>A	uc001etl.4	-	6	904	c.653C>T	c.(652-654)aCg>aTg	p.T218M	MTMR11_uc001etm.2_Missense_Mutation_p.T146M|MTMR11_uc010pbm.1_Missense_Mutation_p.T190M|MTMR11_uc010pbn.1_Missense_Mutation_p.T60M	NM_001145862	NP_001139334	A4FU01	MTMRB_HUMAN	Homo sapiens myotubularin related protein 11 (MTMR11), transcript variant 1, mRNA.	218	Myotubularin phosphatase.						phosphatase activity	p.T146M(1)|p.T218M(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			CTCGTTGACCGTGCTGACCCT	0.572													A	149906114	G	A	149906114	3	1	265	1	0	0	0	0	1	0	0	0	10016	1145	40	1	1559	1	MTMR11	1	149906114	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	35690786	149906114	99344507	4	18558											
PLXNA2	5362	broad.mit.edu	37	chr1	208391207	208391207	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcacccagaccactgagaGcaggaccacagagcggctgt	12	3	12	14	1	0	3	0	1	0	3	0	5	0	4	3	2	3	3	3	2	0	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr1:208391207G>T	uc001hgz.3	-	1	819	c.61C>A	c.(61-63)Ctc>Atc	p.L21I	PLXNA2_uc001hha.4_Missense_Mutation_p.L75I	NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	21					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACCACTGAGAGCAGGACCACA	0.657													T	208391207	G	T	208391207	3	4	265	1	0	0	0	0	1	0	0	0	12197	971	34	4	5747	4	PLXNA2	1	208391207	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	58485093	208391207	40859414	5	18559											
SRBD1	55133	broad.mit.edu	37	chr2	45801787	45801787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttccgaatgaagtcaagcGtgtctttgtctttagcaatc	10	14	9	8	2	3	1	1	1	2	0	5	2	4	1	1	0	2	2	1	0	5	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:45801787G>A	uc002rus.3	-	7	1224	c.1148C>T	c.(1147-1149)aCg>aTg	p.T383M		NM_018079	NP_060549	Q8N5C6	SRBD1_HUMAN	Homo sapiens S1 RNA binding domain 1 (SRBD1), mRNA.	383					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GAAGTCAAGCGTGTCTTTGTC	0.393													A	45801787	G	A	45801787	3	1	265	1	0	0	0	0	1	0	0	0	15229	1145	40	1	1895	1	SRBD1	2	45801787	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		45801787	197397586	6	18560											
GALNT5	11227	broad.mit.edu	37	chr2	158165186	158165186	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacccttgtgataacagAaacaaagggctaaaatggct	15	8	9	9	0	0	2	0	1	0	1	0	2	0	2	1	2	3	3	1	2	5	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:158165186A>G	uc002tzg.3	+	8	2883	c.2628A>G	c.(2626-2628)agA>agG	p.R876R	GALNT5_uc010zci.2_Non-coding_Transcript	NM_014568	NP_055383	Q7Z7M9	GALT5_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5) (GALNT5), mRNA.	876	Ricin B-type lectin.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GTGATAACAGAAACAAAGGGC	0.388													G	158165186	A	G	158165186	2	3	265	1	0	0	0	0	0	0	0	1	6270	243	9	3		3	GALNT5	2	158165186	Silent	SNP	A	TCGA-76-4935-01A-01D-1486-08	112363399	158165186	85034187	7	18561											
VIL1	7429	broad.mit.edu	37	chr2	219294359	219294359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctggtggtgagggaagtCgccacacggccactgacaca	11	6	13	11	2	1	2	0	2	1	0	2	3	1	3	2	4	0	0	2	4	2	0	rs148795202		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:219294359C>T	uc002vib.3	+	6	832	c.810C>T	c.(808-810)gtC>gtT	p.V270V	VIL1_uc010zke.2_5'UTR|VIL1_uc002via.3_Silent_p.V270V|VIL1_uc002vic.1_Silent_p.V270V	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	270	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGAGGGAAGTCGCCACACGGC	0.622													T	219294359	C	T	219294359	2	4	265	1	0	0	0	0	0	0	0	1	17266	871	31	1		1	VIL1	2	219294359	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	61129173	219294359	23905014	8	18562											
SPEG	10290	broad.mit.edu	37	chr2	220344732	220344732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcgggcgagcagcaggtgCggatctgtgactttgggaat	7	9	17	8	3	1	1	0	1	1	0	1	4	1	3	0	4	4	2	0	4	1	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:220344732C>T	uc010fwg.3	+	24	5212	c.5212C>T	c.(5212-5214)Cgg>Tgg	p.R1738W		NM_005876	NP_005867	Q15772	SPEG_HUMAN	Homo sapiens SPEG complex locus (SPEG), transcript variant 1, mRNA.	1738	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCAGCAGGTGCGGATCTGTGA	0.572													T	220344732	C	T	220344732	3	4	265	1	0	0	0	0	1	0	0	0	15132	759	27	1	5322	1	SPEG	2	220344732	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	1050373	220344732	22854641	9	18563											
D2HGDH	728294	broad.mit.edu	37	chr2	242681957	242681957	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctccactgcccgcaTgaaccgggtcctcagcttcc	6	9	7	19	2	2	1	1	1	1	0	6	1	5	1	6	1	3	2	6	1	1	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr2:242681957T>C	uc002wce.1	+	3	631	c.458T>C	c.(457-459)aTg>aCg	p.M153T	D2HGDH_uc010zpc.1_Non-coding_Transcript|D2HGDH_uc010fzq.1_Missense_Mutation_p.M19T|D2HGDH_uc002wcg.1_Non-coding_Transcript	NM_152783	NP_689996	Q8N465	D2HDH_HUMAN	Homo sapiens D-2-hydroxyglutarate dehydrogenase (D2HGDH), nuclear gene encoding mitochondrial protein, mRNA.	153	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		ACTGCCCGCATGAACCGGGTC	0.642													C	242681957	T	C	242681957	3	2	265	1	0	0	0	0	1	0	0	0	4247	1464	51	3	468	3	D2HGDH	2	242681957	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	22337225	242681957	517416	10	18564											
GOLGA4	2803	broad.mit.edu	37	chr3	37366849	37366849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttcttcaagagcagctaGttgaactgaagatgctggca	11	12	10	8	0	2	4	1	2	1	2	2	4	2	4	0	1	4	5	0	1	4	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:37366849G>A	uc003cgv.3	+	13	3832	c.3472G>A	c.(3472-3474)Gtt>Att	p.V1158I	GOLGA4_uc010hgr.2_Missense_Mutation_p.V719I|GOLGA4_uc003cgw.3_Missense_Mutation_p.V1180I|GOLGA4_uc010hgs.3_Intron|GOLGA4_uc003cgx.3_Missense_Mutation_p.V1039I	NM_002078	NP_002069	Q13439	GOGA4_HUMAN	Homo sapiens golgin A4 (GOLGA4), transcript variant 2, mRNA.	1158	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						AGAGCAGCTAGTTGAACTGAA	0.383													A	37366849	G	A	37366849	3	1	265	1	0	0	0	0	1	0	0	0	6611	1029	36	2	3596	2	GOLGA4	3	37366849	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		37366849	160655581	11	18565											
CEP63	80254	broad.mit.edu	37	chr3	134225989	134225989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagaactacaggagcTcatgaaacagattgacataa	18	7	9	7	0	1	5	1	3	0	2	1	6	1	6	0	1	5	2	0	1	5	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:134225989T>C	uc003eqo.1	+	3	532	c.83T>C	c.(82-84)cTc>cCc	p.L28P	CEP63_uc003eql.1_Missense_Mutation_p.L28P|CEP63_uc003eqm.3_Missense_Mutation_p.L28P|CEP63_uc003eqn.1_Missense_Mutation_p.L28P	NM_025180	NP_079456	Q96MT8	CEP63_HUMAN	Homo sapiens centrosomal protein 63kDa (CEP63), transcript variant 1, mRNA.	28					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTACAGGAGCTCATGAAACAG	0.363													C	134225989	T	C	134225989	3	2	265	1	0	0	0	0	1	0	0	0	3287	1551	54	3	89	3	CEP63	3	134225989	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	96859140	134225989	63796441	12	18566											
HTR3D	200909	broad.mit.edu	37	chr3	183756271	183756271	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcatcacccacctgctgCacgtggccaccacccagccc	7	7	6	21	1	3	0	2	0	1	0	3	0	3	0	6	1	3	2	6	1	0	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr3:183756271C>A	uc011bqv.2	+	6	994	c.994C>A	c.(994-996)Cac>Aac	p.H332N	HTR3D_uc003fmj.3_Missense_Mutation_p.H157N|HTR3D_uc011bqu.2_Missense_Mutation_p.H282N|HTR3D_uc010hxp.3_Missense_Mutation_p.H111N	NM_001163646	NP_001157118	Q70Z44	5HT3D_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 3 family member D (HTR3D), transcript variant 3, mRNA.	332						integral to membrane|plasma membrane	extracellular ligand-gated ion channel activity|receptor activity			large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)	10	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;6.23e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CCACCTGCTGCACGTGGCCAC	0.652													A	183756271	C	A	183756271	3	1	265	1	0	0	0	0	1	0	0	0	7505	710	25	4	1190	4	HTR3D	3	183756271	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	49530282	183756271	14266159	13	18567											
TRIML2	205860	broad.mit.edu	37	chr4	189018255	189018255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgagtcctcttatgtgGcataaactcaggtctgtgat	8	14	10	9	0	3	2	1	2	2	0	4	2	4	2	1	2	2	2	1	2	3	2	rs144128750		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr4:189018255G>A	uc011cle.1	-	6	1002	c.780C>T	c.(778-780)tgC>tgT	p.C260C	TRIML2_uc003izj.1_5'UTR|TRIML2_uc003izk.1_5'UTR|TRIML2_uc003izl.2_Silent_p.C185C	NM_173553	NP_775824	Q8N7C3	TRIMM_HUMAN	Homo sapiens tripartite motif family-like 2 (TRIML2), mRNA.	185	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTCTTATGTGGCATAAACTCA	0.493													A	189018255	G	A	189018255	2	1	265	1	0	0	0	0	0	0	0	1	16652	1195	42	2		2	TRIML2	4	189018255	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		189018255	2136021	14	18568											
HCN1	348980	broad.mit.edu	37	chr5	45262592	45262592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggagggctgcagaccgCggtggtgtaggagcagggtg	8	6	20	7	2	0	1	0	0	0	1	0	3	0	3	1	6	3	4	1	6	2	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:45262592C>T	uc003jok.3	-	7	2129	c.2104G>A	c.(2104-2106)Gcg>Acg	p.A702T		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	702						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A702A(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTGCAGACCGCGGTGGTGTAG	0.642													T	45262592	C	T	45262592	3	4	265	1	0	0	0	0	1	0	0	0	7051	768	27	1	572	1	HCN1	5	45262592	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		45262592	135652668	15	18569											
RGNEF	64283	broad.mit.edu	37	chr5	73048878	73048878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgacgcaggccaatcGcctcacagcctgcagccacc	8	5	11	17	2	1	1	1	1	0	0	2	1	1	1	5	2	3	3	5	2	1	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:73048878G>A	uc010izf.3	+	3	502	c.326G>A	c.(325-327)cGc>cAc	p.R109H	RGNEF_uc011csq.2_Missense_Mutation_p.R109H|RGNEF_uc003kcy.1_Missense_Mutation_p.R109H|RGNEF_uc021yam.1_Missense_Mutation_p.R109H	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	109					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		CAGGCCAATCGCCTCACAGCC	0.617													A	73048878	G	A	73048878	3	1	265	1	0	0	0	0	1	0	0	0	13371	1087	38	1	336	1	RGNEF	5	73048878	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	27786286	73048878	107866382	16	18570											
FBXO38	81545	broad.mit.edu	37	chr5	147807459	147807459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactaccctcggaggcccCtaaccagggccaggagcaga	12	3	12	14	1	0	2	0	0	0	2	1	4	0	4	5	4	3	1	5	4	3	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:147807459C>A	uc003lpf.1	+	14	2722	c.2602C>A	c.(2602-2604)Cta>Ata	p.L868I	FBXO38_uc003lpg.1_Intron|FBXO38_uc003lph.2_Intron	NM_205836	NP_995308	Q6PIJ6	FBX38_HUMAN	Homo sapiens F-box protein 38 (FBXO38), transcript variant 2, mRNA.	868						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGGAGGCCCCTAACCAGGGC	0.562													A	147807459	C	A	147807459	3	1	265	1	0	0	0	0	1	0	0	0	5795	680	24	4	2656	4	FBXO38	5	147807459	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	74758581	147807459	33107801	17	18571											
FOXI1	2299	broad.mit.edu	37	chr5	169535162	169535162	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctctagcacagcctcCttggccttagagaagacaga	10	10	9	12	0	1	3	0	0	1	3	3	4	3	3	4	1	2	2	4	1	3	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr5:169535162C>A	uc003mai.4	+	1	729	c.684C>A	c.(682-684)tcC>tcA	p.S228S	FOXI1_uc003maj.4_Intron	NM_012188	NP_036320	Q12951	FOXI1_HUMAN	Homo sapiens forkhead box I1 (FOXI1), transcript variant 1, mRNA.	228					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCACAGCCTCCTTGGCCTTAG	0.532									Pendred syndrome				A	169535162	C	A	169535162	2	1	265	1	0	0	0	0	0	0	0	1	6060	668	24	4		4	FOXI1	5	169535162	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	21727703	169535162	11380098	18	18572											
DAXX	1616	broad.mit.edu	37	chr6	33286946	33286946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtgggctgggcagggtaCatatctttttcccattcttc	7	14	11	9	0	2	0	0	0	2	0	4	0	3	0	1	4	1	3	1	4	3	6			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr6:33286946C>A	uc003oec.3	-	6	2195	c.1991G>T	c.(1990-1992)tGt>tTt	p.C664F	ZBTB22_uc003oeb.3_5'Flank|ZBTB22_uc010juu.3_5'Flank|ZBTB22_uc021ywm.1_5'Flank|DAXX_uc021ywn.1_Intron|DAXX_uc021ywo.1_Intron|DAXX_uc011dre.2_Missense_Mutation_p.C676F|DAXX_uc003oed.3_Missense_Mutation_p.C664F|DAXX_uc011drd.2_Missense_Mutation_p.C589F	NM_001350	NP_001241646	Q9UER7	DAXX_HUMAN	Homo sapiens death-domain associated protein (DAXX), transcript variant 2, mRNA.	664	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						GGGCAGGGTACATATCTTTTT	0.542			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								A	33286946	C	A	33286946	3	1	265	1	0	0	0	0	1	0	0	0	4277	478	17	4	239	4	DAXX	6	33286946	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		33286946	137828121	19	18573											
ABCB5	340273	broad.mit.edu	37	chr7	20782599	20782599	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttatccctcagtattgagCgaggaaagacagtagcattt	12	11	10	8	1	1	2	1	1	0	1	2	4	2	3	1	1	2	4	1	1	4	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:20782599C>T	uc010kuh.3	+	24	3361	c.3124C>T	c.(3124-3126)Cga>Tga	p.R1042*	ABCB5_uc003suw.4_Nonsense_Mutation_p.R597*	NM_001163941	NP_848654	Q2M3G0	ABCB5_HUMAN	Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 5 (ABCB5), transcript variant 1, mRNA.	597					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAGTATTGAGCGAGGAAAGAC	0.483													T	20782599	C	T	20782599	4	4	265	1	0	0	0	0	0	1	0	0	44	760	27	1	3259	1	ABCB5	7	20782599	Nonsense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		20782599	138356064	20	18574											
C7orf60	154743	broad.mit.edu	37	chr7	112461814	112461814	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatattaacttaaaagtaaTatggggtcttctagctcata	14	15	6	6	0	3	0	1	0	2	0	3	0	3	0	0	2	2	2	0	2	9	9			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:112461814T>C	uc011kms.1	-	5	1408	c.1281A>G	c.(1279-1281)atA>atG	p.I427M	C7orf60_uc003vgo.1_Missense_Mutation_p.I401M	NM_152556	NP_689769	Q1RMZ1	CG060_HUMAN	Homo sapiens chromosome 7 open reading frame 60 (C7orf60), mRNA.	401										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						TTAAAAGTAATATGGGGTCTT	0.398													C	112461814	T	C	112461814	3	2	265	1	0	0	0	0	1	0	0	0	2431	1396	49	3	18	3	C7orf60	7	112461814	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	91679215	112461814	46676849	21	18575											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518832	113518832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttcatgtggatcaaacGctgtttcctttacctcgatg	7	15	7	12	2	2	0	2	0	0	0	5	2	4	1	3	1	2	2	3	1	2	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:113518832G>A	uc010ljy.1	-	3	2346	c.2315C>T	c.(2314-2316)gCg>gTg	p.A772V		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	772					glycogen metabolic process	integral to membrane		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TGGATCAAACGCTGTTTCCTT	0.403													A	113518832	G	A	113518832	3	1	265	1	0	0	0	0	1	0	0	0	12453	1087	38	1	1057	1	PPP1R3A	7	113518832	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	1057018	113518832	45619831	22	18576											
OR2A1	346528	broad.mit.edu	37	chr7	144015510	144015510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctttgctggctgcatgaCgcagacctttctctgtttga	5	15	9	12	1	1	3	0	2	1	1	3	3	2	3	2	1	2	5	2	1	0	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr7:144015510C>T	uc011kud.2	+	0	293	c.293C>T	c.(292-294)aCg>aTg	p.T98M	OR2A9P_uc003wec.1_Intron	NM_001005287	NP_001005287	Q8NGT9	OR2A1_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 1 (OR2A1), mRNA.	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(1)|lung(3)|skin(2)	6	Melanoma(164;0.14)					GGCTGCATGACGCAGACCTTT	0.577													T	144015510	C	T	144015510	3	4	265	1	0	0	0	0	1	0	0	0	11050	536	19	1	295	1	OR2A1	7	144015510	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	30496678	144015510	15123153	23	18577											
FAM110B	90362	broad.mit.edu	37	chr8	59059573	59059573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctccagcggtctaagtcaGacttgagtgacagatatttc	10	11	9	11	1	2	4	1	2	1	2	4	4	3	4	2	1	1	0	2	1	2	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:59059573G>C	uc022auu.1	+	0	784	c.784G>C	c.(784-786)Gac>Cac	p.D262H	FAM110B_uc003xtj.1_Missense_Mutation_p.D262H	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	262						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				GTCTAAGTCAGACTTGAGTGA	0.562													C	59059573	G	C	59059573	3	2	265	1	0	0	0	0	1	0	0	0	5442	942	33	4	786	4	FAM110B	8	59059573	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		59059573	87304449	24	18578											
ZFHX4	79776	broad.mit.edu	37	chr8	77768255	77768255	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctccaaacagcacatttCaaaagtgagggagaccgttg	13	10	9	9	1	2	2	1	1	1	1	3	3	2	2	2	1	2	2	2	1	3	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:77768255C>G	uc003yau.2	+	9	9485	c.9098C>G	c.(9097-9099)tCa>tGa	p.S3033*	ZFHX4_uc003yaw.1_Nonsense_Mutation_p.S2988*	NM_024721	NP_078997	Q86UP3	ZFHX4_HUMAN	Homo sapiens zinc finger homeobox 4 (ZFHX4), mRNA.	2988			V -> G (in dbSNP:rs16939380).			nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CAGCACATTTCAAAAGTGAGG	0.537										HNSCC(33;0.089)			G	77768255	C	G	77768255	4	3	265	1	0	0	0	0	0	1	0	0	17736	838	29	4	9132	4	ZFHX4	8	77768255	Nonsense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	18708682	77768255	68595767	25	18579											
FAM83H	286077	broad.mit.edu	37	chr8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggcccagtgacagaCgccgcgggctctcgggttgg	5	6	15	15	4	1	2	0	1	1	1	2	2	1	2	3	4	0	2	3	4	0	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr8:144808629C>T	uc003yzk.3	-	4	3071	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488	NP_940890	Q6ZRV2	FA83H_HUMAN	Homo sapiens family with sequence similarity 83, member H (FAM83H), mRNA.	1001					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													T	144808629	C	T	144808629	3	4	265	1	0	0	0	0	1	0	0	0	5690	536	19	1	541	1	FAM83H	8	144808629	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	67040374	144808629	1555393	26	18580											
PIP5K1B	8395	broad.mit.edu	37	chr9	71509330	71509330	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaatcaggaggcattaatAtcaggattgtggtgatgaac	13	11	12	5	0	2	2	2	2	0	0	2	4	2	4	0	4	2	2	0	4	4	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr9:71509330A>G	uc004agu.3	+	7	852	c.547A>G	c.(547-549)Atc>Gtc	p.I183V	PIP5K1B_uc011lrq.2_Missense_Mutation_p.I183V|PIP5K1B_uc004agv.3_Non-coding_Transcript	NM_003558	NP_003549	O14986	PI51B_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase, type I, beta (PIP5K1B), transcript variant 2, mRNA.	183	PIPK.					endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		AGGCATTAATATCAGGATTGT	0.373													G	71509330	A	G	71509330	3	3	265	1	0	0	0	0	1	0	0	0	12017	449	16	3	565	3	PIP5K1B	9	71509330	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		71509330	69704101	27	18581											
PTEN	5728	broad.mit.edu	37	chr10	89720805	89720808	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															caaggaatatctagtacttaCtttaacaaaaaatgatcttg																										TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:89720805_89720808delCTTT	uc001kfb.3	+	7	1988_1991	c.956_959delCTTT	c.(955-960)actttafs	p.T319fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T319fs*1(60)|p.L318fs*2(45)|p.0?(37)|p.T319fs*6(12)|p.T319fs*24(8)|p.L320*(6)|p.R55fs*1(5)|p.T319del(4)|p.L320V(2)|p.T319fs*4(2)|p.T319fs*5(2)|p.W274_F341del(2)|p.V317_K322del(2)|p.T319_K332del(2)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L316fs*1(1)|p.L318fs*3(1)|p.L318F(1)|p.G165_K342del(1)|p.G165_*404del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTAGTACTTACTTTAACAAAAAAT	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89720808	CTTT	-	89720805	7	5	265	1	0	1	0	1	0	0	0	0	12823	565	20	0	986	0	PTEN	10	89720805	Frame_Shift_Del	DEL	CTTT	TCGA-76-4935-01A-01D-1486-08		89720805	45813942	28	18582											
C10orf12	26148	broad.mit.edu	37	chr10	98743678	98743678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaaaagcaagaaaaGgtcacggaaatgtaggagtt	17	8	13	3	1	1	1	1	0	0	1	1	5	1	4	0	4	1	3	0	4	7	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:98743678G>T	uc001kmv.3	+	0	2638	c.2531G>T	c.(2530-2532)aGg>aTg	p.R844M		NM_015652	NP_056467	Q8N655	CJ012_HUMAN	Homo sapiens chromosome 10 open reading frame 12 (C10orf12), mRNA.	844										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		AGCAAGAAAAGGTCACGGAAA	0.393													T	98743678	G	T	98743678	3	4	265	1	0	0	0	0	1	0	0	0	1600	1000	35	4	2533	4	C10orf12	10	98743678	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	9022873	98743678	36791069	29	18583											
CTBP2	1488	broad.mit.edu	37	chr10	126727602	126727602	+	Nonsense_Mutation	SNP	T	T	A																															caatcgctgtctcttgacttTgtgcttatccacaagggcca																								rs76555439		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727602T>A	uc009yak.3	-	2	309	c.22A>T	c.(22-24)Aaa>Taa	p.K8*	CTBP2_uc009yal.3_Nonsense_Mutation_p.K8*|CTBP2_uc001lif.4_Nonsense_Mutation_p.K8*|CTBP2_uc001lih.4_Nonsense_Mutation_p.K8*	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	8					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTCTTGACTTTGTGCTTATCC	0.453													A	126727602	T	A	126727602	4	1	265	1	0	0	0	0	0	1	0	0	4031	1821	63	5	3033	5	CTBP2	10	126727602	Nonsense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	27983924	126727602	8807145	30	18584	23	2									
CTBP2	1488	broad.mit.edu	37	chr10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C																															atcgctgtctcttgactttgTgcttatccacaagggccatt																								rs78849795		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr10:126727604T>C	uc009yak.3	-	2	307	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_uc009yal.3_Missense_Mutation_p.H7R|CTBP2_uc001lif.4_Missense_Mutation_p.H7R|CTBP2_uc001lih.4_Missense_Mutation_p.H7R	NM_001329	NP_001320	P56545	CTBP2_HUMAN	Homo sapiens C-terminal binding protein 2 (CTBP2), transcript variant 1, mRNA.	7					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453													C	126727604	T	C	126727604	3	2	265	1	0	0	0	0	1	0	0	0	4031	1696	59	3	3035	3	CTBP2	10	126727604	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	2	126727604	8807143	31	18585	23	2									
AMPD3	272	broad.mit.edu	37	chr11	10514962	10514962	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcttcatcaagcacAcataccagacggagcctgac	11	7	9	14	2	2	2	2	1	0	1	2	3	2	3	2	1	5	3	2	1	2	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:10514962A>T	uc001min.1	+	6	1378	c.1033A>T	c.(1033-1035)Aca>Tca	p.T345S	AMPD3_uc010rbz.1_Missense_Mutation_p.T177S|AMPD3_uc009yfw.1_Non-coding_Transcript|AMPD3_uc001mio.1_Missense_Mutation_p.T336S|AMPD3_uc009yfz.2_Non-coding_Transcript|AMPD3_uc001mip.1_Missense_Mutation_p.T343S|AMPD3_uc009yfy.2_Missense_Mutation_p.T336S	NM_000480	NP_001165902	Q01432	AMPD3_HUMAN	Homo sapiens adenosine monophosphate deaminase 3 (AMPD3), transcript variant 1, mRNA.	336					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CATCAAGCACACATACCAGAC	0.612													T	10514962	A	T	10514962	3	4	265	1	0	0	0	0	1	0	0	0	587	159	6	5	1079	5	AMPD3	11	10514962	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		10514962	124491554	32	18586											
VWA5A	4013	broad.mit.edu	37	chr11	124007318	124007318	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagtatgcctcaaatataCactccagggcaagacttttg	14	10	8	9	0	1	2	1	0	0	2	2	2	2	2	2	1	2	2	2	1	6	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr11:124007318C>G	uc001pzu.3	+	13	1771	c.1562C>G	c.(1561-1563)aCa>aGa	p.T521R	VWA5A_uc001pzt.3_Missense_Mutation_p.T521R	NM_001130142	NP_055437	O00534	VMA5A_HUMAN	Homo sapiens von Willebrand factor A domain containing 5A (VWA5A), transcript variant 3, mRNA.	521										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CTCAAATATACACTCCAGGGC	0.428													G	124007318	C	G	124007318	3	3	265	1	0	0	0	0	1	0	0	0	17344	478	17	4	1612	4	VWA5A	11	124007318	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	113492356	124007318	10999198	33	18587											
DYRK4	8798	broad.mit.edu	37	chr12	4721722	4721722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgcagatgggaaccttctCttcgcatgaccccggaccag	8	8	12	13	2	1	2	0	1	1	1	3	4	1	4	4	3	2	2	4	3	1	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:4721722C>T	uc009zeh.1	+	13	1546	c.1504C>T	c.(1504-1506)Ctt>Ttt	p.L502F	DYRK4_uc001qmx.3_Missense_Mutation_p.L387F|DYRK4_uc001qmy.2_Missense_Mutation_p.L387F|DYRK4_uc021qtq.1_Missense_Mutation_p.L241F|DYRK4_uc001qmz.2_Missense_Mutation_p.L101F|DYRK4_uc001qna.2_Missense_Mutation_p.L24F|DYRK4_uc010ser.2_Missense_Mutation_p.L24F	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	387						Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			GGAACCTTCTCTTCGCATGAC	0.448													T	4721722	C	T	4721722	3	4	265	1	0	0	0	0	1	0	0	0	4897	913	32	2	1197	2	DYRK4	12	4721722	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		4721722	129130173	34	18588											
ABCC9	10060	broad.mit.edu	37	chr12	21997717	21997717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaccttattggtccaaggaTtatcttattgagaaggttgt	10	17	9	5	0	1	1	0	1	1	1	2	3	2	2	2	3	1	1	2	3	6	7			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:21997717T>C	uc001rfh.3	-	24	3249	c.3229A>G	c.(3229-3231)Atc>Gtc	p.I1077V	ABCC9_uc001rfi.1_Missense_Mutation_p.I1077V	NM_020297	NP_064693	O60706	ABCC9_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 9 (ABCC9), transcript variant SUR2B, mRNA.	1077	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GGTCCAAGGATTATCTTATTG	0.368													C	21997717	T	C	21997717	3	2	265	1	0	0	0	0	1	0	0	0	59	1493	52	3	1618	3	ABCC9	12	21997717	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08	17275995	21997717	111854178	35	18589											
HOXC11	3227	broad.mit.edu	37	chr12	54367099	54367099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcgcagatttcggcgagcGagggagctgcgcctccaacc	7	5	16	13	5	0	1	0	0	0	1	2	4	1	2	3	3	4	2	3	3	1	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:54367099G>A	uc001sem.3	+	0	190	c.74G>A	c.(73-75)cGa>cAa	p.R25Q		NM_014212	NP_055027	O43248	HXC11_HUMAN	Homo sapiens homeobox C11 (HOXC11), mRNA.	25					endoderm development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)	2						TTCGGCGAGCGAGGGAGCTGC	0.617			T	NUP98	AML								A	54367099	G	A	54367099	3	1	265	1	0	0	0	0	1	0	0	0	7365	1058	37	1	76	1	HOXC11	12	54367099	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	32369382	54367099	79484796	36	18590											
TMTC2	160335	broad.mit.edu	37	chr12	83289748	83289748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggacagcctcctcacccGcactctcaccttcttctact	6	12	4	19	2	4	0	2	0	3	0	7	1	5	1	4	1	2	1	4	1	1	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:83289748G>A	uc001szt.3	+	2	1238	c.806G>A	c.(805-807)cGc>cAc	p.R269H	TMTC2_uc001szr.1_Missense_Mutation_p.R269H|TMTC2_uc001szs.1_Missense_Mutation_p.R269H|TMTC2_uc010suk.2_Missense_Mutation_p.R24H	NM_152588	NP_689801	Q8N394	TMTC2_HUMAN	Homo sapiens transmembrane and tetratricopeptide repeat containing 2 (TMTC2), mRNA.	269						endoplasmic reticulum|integral to membrane	binding	p.R269S(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCCTCACCCGCACTCTCACC	0.527													A	83289748	G	A	83289748	3	1	265	1	0	0	0	0	1	0	0	0	16361	1087	38	1	816	1	TMTC2	12	83289748	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	28922649	83289748	50562147	37	18591											
HNF1A	6927	broad.mit.edu	37	chr12	121437175	121437175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagcgccctggccagcCtcacgcccaccaagcaggta	9	4	10	18	2	1	1	1	1	0	0	1	1	1	1	6	2	3	2	6	2	2	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr12:121437175C>T	uc001tzg.3	+	7	1629	c.1606C>T	c.(1606-1608)Ctc>Ttc	p.L536F	HNF1A_uc010szn.2_Missense_Mutation_p.L536F|HNF1A_uc021rfa.1_Missense_Mutation_p.L536F|HNF1A_uc021rfb.1_Missense_Mutation_p.L408F|HNF1A_uc021rfc.1_Non-coding_Transcript	NM_000545	NP_000536	P20823	HNF1A_HUMAN	Homo sapiens HNF1 homeobox A (HNF1A), mRNA.	536					glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGGCCAGCCTCACGCCCAC	0.672									Hepatic Adenoma, Familial Clustering of				T	121437175	C	T	121437175	3	4	265	1	0	0	0	0	1	0	0	0	7306	681	24	2	1636	2	HNF1A	12	121437175	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	38147427	121437175	12414720	38	18592											
DZIP1	22873	broad.mit.edu	37	chr13	96234520	96234520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcgctccaatcagtcaCagttactaagctgcttttta	10	14	7	10	1	2	0	2	0	0	0	4	0	3	0	1	0	3	4	1	0	4	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr13:96234520C>T	uc001vmk.3	-	22	3424	c.2572G>A	c.(2572-2574)Gtg>Atg	p.V858M	DZIP1_uc001vmj.3_Missense_Mutation_p.V334M|DZIP1_uc001vml.3_Missense_Mutation_p.V839M|DZIP1_uc001vmm.3_Non-coding_Transcript	NM_198968	NP_945319	Q86YF9	DZIP1_HUMAN	Homo sapiens DAZ interacting protein 1 (DZIP1), transcript variant 2, mRNA.	858					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATCAGTCACAGTTACTAAG	0.408													T	96234520	C	T	96234520	3	4	265	1	0	0	0	0	1	0	0	0	4902	478	17	2	35	2	DZIP1	13	96234520	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		96234520	18935358	39	18593											
OR4K5	79317	broad.mit.edu	37	chr14	20388930	20388930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttctgataccagcctGcactcccctatgtactttct	7	14	6	14	0	2	2	0	2	2	0	3	2	3	2	4	0	4	2	4	0	3	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:20388930G>T	uc010tkw.2	+	0	165	c.165G>T	c.(163-165)ctG>ctT	p.L55L		NM_001005483	NP_001005483	Q8NGD3	OR4K5_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 5 (OR4K5), mRNA.	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACCAGCCTGCACTCCCCTA	0.408													T	20388930	G	T	20388930	2	4	265	1	0	0	0	0	0	0	0	1	11149	1306	46	4		4	OR4K5	14	20388930	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		20388930	86960610	40	18594											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274502	68274502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccagcagggcctgtgctgGctggggagactgcctcagga	6	7	16	12	0	1	1	1	0	0	1	2	3	2	2	3	5	3	3	3	5	0	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:68274502G>A	uc001xka.2	-	4	638	c.499C>T	c.(499-501)Cca>Tca	p.P167S	ZFYVE26_uc010tsz.1_Non-coding_Transcript|ZFYVE26_uc001xkc.4_Missense_Mutation_p.P167S|ZFYVE26_uc010tta.2_Missense_Mutation_p.P167S	NM_015346	NP_056161	Q68DK2	ZFY26_HUMAN	Homo sapiens zinc finger, FYVE domain containing 26 (ZFYVE26), mRNA.	167					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCTGTGCTGGCTGGGGAGAC	0.607													A	68274502	G	A	68274502	3	1	265	1	0	0	0	0	1	0	0	0	17769	1203	42	2	7272	2	ZFYVE26	14	68274502	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	47885572	68274502	39075038	41	18595											
PSEN1	5663	broad.mit.edu	37	chr14	73678621	73678621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccaggaactttccagcaGtatcctcgctggtgaagacc	9	10	10	12	1	0	2	0	1	0	1	4	3	3	3	4	2	2	3	4	2	3	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr14:73678621G>C	uc001xnr.3	+	9	1384	c.1100G>C	c.(1099-1101)aGt>aCt	p.S367T	PSEN1_uc001xnv.3_Missense_Mutation_p.S363T|PSEN1_uc010ark.3_Missense_Mutation_p.S363T|PSEN1_uc001xnt.1_Non-coding_Transcript|PSEN1_uc001xnu.3_Non-coding_Transcript	NM_000021	NP_000012	P49768	PSN1_HUMAN	Homo sapiens presenilin 1 (PSEN1), transcript variant 1, mRNA.	367	Required for interaction with CTNNB1.				amyloid precursor protein catabolic process|anti-apoptosis|beta-amyloid metabolic process|cell-cell adhesion|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|smooth endoplasmic reticulum calcium ion homeostasis	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|gamma-secretase complex|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum|smooth endoplasmic reticulum|Z disc	aspartic-type endopeptidase activity|beta-catenin binding|cadherin binding|calcium channel activity|PDZ domain binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.075)		CTTTCCAGCAGTATCCTCGCT	0.493													C	73678621	G	C	73678621	3	2	265	1	0	0	0	0	1	0	0	0	12735	1029	36	4	1130	4	PSEN1	14	73678621	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	5404119	73678621	33670919	42	18596											
NOX5	79400	broad.mit.edu	37	chr15	69328195	69328195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacacggttcggcctccccGacaggtgtcgctctgctgct	4	10	12	15	4	1	0	0	0	1	0	4	1	2	0	3	3	3	5	3	3	1	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr15:69328195G>A	uc002ars.2	+	6	1148	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P	MIR548H4_uc021spl.1_Intron|NOX5_uc002arq.2_Silent_p.P323P|NOX5_uc002arp.2_Silent_p.P351P|NOX5_uc010bid.2_Silent_p.P334P|NOX5_uc010bie.2_Silent_p.P169P|NOX5_uc002arr.2_Silent_p.P341P|NOX5_uc010bif.2_Non-coding_Transcript	NM_024505	NP_078781	Q96PH1	NOX5_HUMAN	Homo sapiens NADPH oxidase, EF-hand calcium binding domain 5 (NOX5), transcript variant 1, mRNA.	369	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	p.P351P(1)|p.S369S(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CGGCCTCCCCGACAGGTGTCG	0.632													A	69328195	G	A	69328195	2	1	265	1	0	0	0	0	0	0	0	1	10635	1045	37	1		1	NOX5	15	69328195	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08		69328195	33203197	43	18597											
OTOA	146183	broad.mit.edu	37	chr16	21726417	21726417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtcctgagaagtgccGtctcccagtatgtatccgac	8	9	11	13	3	1	1	0	1	1	1	4	3	3	1	4	1	1	3	4	1	3	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:21726417G>A	uc002djh.3	+	12	1433	c.1432G>A	c.(1432-1434)Gtc>Atc	p.V478I	LOC23117_uc021tel.1_Intron|OTOA_uc010vbj.2_Missense_Mutation_p.V399I|OTOA_uc002dji.3_Missense_Mutation_p.V154I|OTOA_uc010vbk.2_Missense_Mutation_p.V126I	NM_144672	NP_653273	Q7RTW8	OTOAN_HUMAN	Homo sapiens otoancorin (OTOA), transcript variant 1, mRNA.	492					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix		p.V478I(2)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		GAGAAGTGCCGTCTCCCAGTA	0.577													A	21726417	G	A	21726417	3	1	265	1	0	0	0	0	1	0	0	0	11378	1145	40	1	1528	1	OTOA	16	21726417	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		21726417	68628336	44	18598											
HERPUD1	9709	broad.mit.edu	37	chr16	56970643	56970643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggttctaatcggggacaGtatcctgaggattcctcaag	9	11	12	9	1	2	1	1	1	1	0	5	3	4	3	2	4	0	3	2	4	3	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr16:56970643G>C	uc002eke.1	+	3	754	c.345G>C	c.(343-345)caG>caC	p.Q115H	HERPUD1_uc010vhj.1_Missense_Mutation_p.Q176H|HERPUD1_uc002ekf.1_Missense_Mutation_p.Q114H|HERPUD1_uc002ekg.1_Missense_Mutation_p.Q90H|HERPUD1_uc010cco.1_Missense_Mutation_p.Q176H|HERPUD1_uc010ccp.1_Missense_Mutation_p.Q175H|HERPUD1_uc002ekh.1_5'UTR	NM_014685	NP_055500	Q15011	HERP1_HUMAN	Homo sapiens homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1 (HERPUD1), transcript variant 1, mRNA.	115						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						ATCGGGGACAGTATCCTGAGG	0.448			T	ERG	prostate								C	56970643	G	C	56970643	3	2	265	1	0	0	0	0	1	0	0	0	7118	1020	36	4	359	4	HERPUD1	16	56970643	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	35244226	56970643	33384110	45	18599											
ANKFY1	51479	broad.mit.edu	37	chr17	4084568	4084568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgaataagaaagcaggCggtgggctcgttgttttcat	9	11	13	8	3	1	1	1	0	0	1	2	2	1	1	1	3	2	4	1	3	3	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:4084568C>T	uc002fxn.3	-	15	2464	c.2347G>A	c.(2347-2349)Gcc>Acc	p.A783T	ANKFY1_uc002fxo.3_Missense_Mutation_p.A742T|ANKFY1_uc002fxp.3_Missense_Mutation_p.A740T|ANKFY1_uc010ckp.3_Missense_Mutation_p.A683T|ANKFY1_uc002fxq.1_Missense_Mutation_p.A741T	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN	Homo sapiens ankyrin repeat and FYVE domain containing 1 (ANKFY1), transcript variant 1, mRNA.	741						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AGAAAGCAGGCGGTGGGCTCG	0.522													T	4084568	C	T	4084568	3	4	265	1	0	0	0	0	1	0	0	0	626	768	27	1	1328	1	ANKFY1	17	4084568	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		4084568	77110642	46	18600											
USP6	9098	broad.mit.edu	37	chr17	5037255	5037255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtgaggacgactctccGgaaccatgtcttctttaggg	8	10	13	10	3	3	1	0	1	3	0	4	5	3	4	2	4	1	0	2	4	2	3	rs138849740	byFrequency	TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:5037255G>A	uc002gau.1	+	14	2688	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	USP6_uc002gav.1_Missense_Mutation_p.R153Q|USP6_uc010ckz.1_5'UTR|USP6_uc002gaw.3_Missense_Mutation_p.R214Q|DQ586040_uc002gay.1_5'Flank|DQ575687_uc021toi.1_5'Flank|DQ570124_uc002gba.3_5'Flank|DQ576627_uc002gbb.3_5'Flank	NM_004505	NP_004496	P35125	UBP6_HUMAN	Homo sapiens ubiquitin specific peptidase 6 (Tre-2 oncogene) (USP6), mRNA.	153	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						ACGACTCTCCGGAACCATGTC	0.562			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5037255	G	A	5037255	3	1	265	1	0	0	0	0	1	0	0	0	17188	1116	39	1	480	1	USP6	17	5037255	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	952687	5037255	76157955	47	18601											
MYH13	8735	broad.mit.edu	37	chr17	10250061	10250061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacccttggacagcacaggCccttcagcatttctgcagaa	10	9	8	14	0	3	1	2	0	1	1	3	2	3	2	2	2	3	3	2	2	1	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:10250061C>T	uc002gmk.1	-	12	1289	c.1199G>A	c.(1198-1200)gGc>gAc	p.G400D	MYH13_uc010vvf.1_Missense_Mutation_p.G75D	NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	400	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACAGCACAGGCCCTTCAGCAT	0.458													T	10250061	C	T	10250061	3	4	265	1	0	0	0	0	1	0	0	0	10108	739	26	2	4733	2	MYH13	17	10250061	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	5212806	10250061	70945149	48	18602											
KIF2B	84643	broad.mit.edu	37	chr17	51900577	51900577	+	Silent	SNP	G	G	T																															tgggtcacggtagagtgggtGgagaaagcagtcaaaaaagg																										TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900577G>T	uc002iua.2	+	0	339	c.183G>T	c.(181-183)gtG>gtT	p.V61V		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	61					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.W60L(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TAGAGTGGGTGGAGAAAGCAG	0.557													T	51900577	G	T	51900577	2	4	265	1	0	0	0	0	0	0	0	1	8356	1335	47	4		4	KIF2B	17	51900577	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	41650516	51900577	29294633	49	18603	24	2									
KIF2B	84643	broad.mit.edu	37	chr17	51900579	51900579	+	Missense_Mutation	SNP	A	A	G																															ggtcacggtagagtgggtggAgaaagcagtcaaaaaaggca																										TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:51900579A>G	uc002iua.2	+	0	341	c.185A>G	c.(184-186)gAg>gGg	p.E62G		NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	62					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GAGTGGGTGGAGAAAGCAGTC	0.552													G	51900579	A	G	51900579	3	3	265	1	0	0	0	0	1	0	0	0	8356	304	11	3	187	3	KIF2B	17	51900579	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08	2	51900579	29294631	50	18604	24	2									
GRIN2C	2905	broad.mit.edu	37	chr17	72845978	72845978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcacactgatgcccGtctccacaaagggtacagag	12	6	8	15	1	2	2	1	1	1	1	3	2	2	2	4	1	2	1	4	1	2	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr17:72845978G>A	uc002jlt.1	-	6	1742	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	GRIN2C_uc010wrh.1_Non-coding_Transcript|GRIN2C_uc002jlu.1_Missense_Mutation_p.T529M	NM_000835	NP_000826	Q14957	NMDE3_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C (GRIN2C), mRNA.	529					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	ACTGATGCCCGTCTCCACAAA	0.627													A	72845978	G	A	72845978	3	1	265	1	0	0	0	0	1	0	0	0	6836	1145	40	1	2143	1	GRIN2C	17	72845978	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08	20945399	72845978	8349232	51	18605											
MC5R	4161	broad.mit.edu	37	chr18	13826125	13826125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaatgtgtttgactccAtgatctgcatttccgtggtg	7	16	10	8	1	1	3	0	3	1	0	3	3	3	3	2	1	1	2	2	1	1	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr18:13826125A>G	uc010xaf.2	+	0	583	c.361A>G	c.(361-363)Atg>Gtg	p.M121V		NM_005913	NP_005904	P33032	MC5R_HUMAN	Homo sapiens melanocortin 5 receptor (MC5R), mRNA.	121					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GTTTGACTCCATGATCTGCAT	0.517													G	13826125	A	G	13826125	3	3	265	1	0	0	0	0	1	0	0	0	9442	217	8	3	363	3	MC5R	18	13826125	Missense_Mutation	SNP	A	TCGA-76-4935-01A-01D-1486-08		13826125	64251123	52	18606											
MAN2B1	4125	broad.mit.edu	37	chr19	12769127	12769127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtgggggccatccgCgtaagggaagaagtcgtcat	10	7	16	8	3	1	1	1	0	0	1	3	3	2	2	2	4	1	1	2	4	4	1			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:12769127C>T	uc002mub.2	-	8	1217	c.1141G>A	c.(1141-1143)Gcg>Acg	p.A381T	MAN2B1_uc010dyv.1_Missense_Mutation_p.A380T	NM_000528	NP_000519	O00754	MA2B1_HUMAN	Homo sapiens mannosidase, alpha, class 2B, member 1 (MAN2B1), transcript variant 1, mRNA.	381					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GGGCCATCCGCGTAAGGGAAG	0.617													T	12769127	C	T	12769127	3	4	265	1	0	0	0	0	1	0	0	0	9291	768	27	1	1958	1	MAN2B1	19	12769127	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08		12769127	46359856	53	18607											
NLRP5	126206	broad.mit.edu	37	chr19	56565093	56565093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagagcctggatctcaCggacaatgccctgggtgacg	9	7	13	12	2	1	3	1	2	1	1	2	5	1	5	3	3	2	0	3	3	2	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr19:56565093C>T	uc002qmj.3	+	12	3218	c.3218C>T	c.(3217-3219)aCg>aTg	p.T1073M	NLRP5_uc002qmi.3_Missense_Mutation_p.T1054M	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	1073						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTGGATCTCACGGACAATGCC	0.587													T	56565093	C	T	56565093	3	4	265	1	0	0	0	0	1	0	0	0	10556	536	19	1	3268	1	NLRP5	19	56565093	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	43795966	56565093	2563890	54	18608											
TNNC2	7125	broad.mit.edu	37	chr20	44453472	44453472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcagcctgctggtccGtctgcaggagacacagagaa	9	7	13	12	1	2	2	1	0	1	2	3	4	3	2	3	3	3	2	3	3	1	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chr20:44453472G>A	uc002xpr.3	-	2	70	c.4_splice	c.e2-1	p.T2_splice		NM_003279	NP_003270	P02585	TNNC2_HUMAN	Homo sapiens troponin C type 2 (fast) (TNNC2), mRNA.	2				TD -> DT (in Ref. 6; AA sequence).	muscle filament sliding|regulation of muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium ion binding			endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.0122)				CTGCTGGTCCGTCTGCAGGAG	0.612													A	44453472	G	A	44453472	3	1	265	1	0	0	0	0	1	0	0	0	16425	1159	40	1	497	1	TNNC2	20	44453472	Missense_Mutation	SNP	G	TCGA-76-4935-01A-01D-1486-08		44453472	18572048	55	18609											
MXRA5	25878	broad.mit.edu	37	chrX	3240193	3240193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttgagtagaaaaagtcTctgatggggcaaaagttgtg	12	12	14	3	0	1	3	0	2	1	1	2	3	1	3	0	3	0	4	0	3	5	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:3240193T>C	uc004crg.4	-	4	3690	c.3533A>G	c.(3532-3534)gAg>gGg	p.E1178G		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	1178						extracellular region		p.E1178D(1)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAAAAGTCTCTGATGGGGC	0.488													C	3240193	T	C	3240193	3	2	265	1	0	0	0	0	1	0	0	0	10079	1551	54	3	4965	3	MXRA5	23	3240193	Missense_Mutation	SNP	T	TCGA-76-4935-01A-01D-1486-08		3240193	152030367	56	18610											
RAI2	10742	broad.mit.edu	37	chrX	17818870	17818870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttattttcagccttgacttCgccgctggggtggttgggct	3	15	14	9	2	1	1	1	1	0	0	2	1	1	1	2	4	1	4	2	4	1	6			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:17818870C>T	uc022btm.1	-	0	1261	c.1261G>A	c.(1261-1263)Gaa>Aaa	p.E421K	RAI2_uc004cyf.3_Missense_Mutation_p.E421K|RAI2_uc004cyg.3_Missense_Mutation_p.E421K|RAI2_uc011miy.2_Missense_Mutation_p.E371K|RAI2_uc022btl.1_Missense_Mutation_p.E421K|RAI2_uc004cyh.4_Missense_Mutation_p.E421K|RAI2_uc010nfa.3_Missense_Mutation_p.E421K	NM_021785	NP_068557	Q9Y5P3	RAI2_HUMAN	Homo sapiens retinoic acid induced 2 (RAI2), transcript variant 2, mRNA.	421					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GCCTTGACTTCGCCGCTGGGG	0.567													T	17818870	C	T	17818870	3	4	265	1	0	0	0	0	1	0	0	0	13097	893	31	1	335	1	RAI2	23	17818870	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	14578677	17818870	137451690	57	18611											
KLHL34	257240	broad.mit.edu	37	chrX	21675213	21675213	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagtacacgcgccgcagtaCgtcggcgggaaccaggccaa	10	3	14	14	7	0	0	0	0	0	0	1	2	0	1	3	3	3	3	3	3	4	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:21675213C>G	uc004czz.1	-	0	1236	c.694G>C	c.(694-696)Gta>Cta	p.V232L		NM_153270	NP_695002	Q8N239	KLH34_HUMAN	Homo sapiens kelch-like 34 (Drosophila) (KLHL34), mRNA.	232	BACK.							p.D231D(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CGCCGCAGTACGTCGGCGGGA	0.667													G	21675213	C	G	21675213	3	3	265	1	0	0	0	0	1	0	0	0	8445	536	19	4	1244	4	KLHL34	23	21675213	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	3856343	21675213	133595347	58	18612											
DUSP21	63904	broad.mit.edu	37	chrX	44703624	44703624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcgtgactcgcgtctctaCgacttttttgaccccattgc	5	14	8	14	4	1	2	0	2	1	0	4	3	1	2	2	0	2	1	2	0	1	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:44703624C>T	uc004dgd.3	+	0	376	c.246C>T	c.(244-246)taC>taT	p.Y82Y		NM_022076	NP_071359	Q9H596	DUS21_HUMAN	Homo sapiens dual specificity phosphatase 21 (DUSP21), mRNA.	82	Sufficient for mitochondrial localization (By similarity).|Tyrosine-protein phosphatase.					cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.Y82Y(4)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|skin(3)	19						CGCGTCTCTACGACTTTTTTG	0.542													T	44703624	C	T	44703624	2	4	265	1	0	0	0	0	0	0	0	1	4859	547	19	1		1	DUSP21	23	44703624	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	23028411	44703624	110566936	59	18613											
EDA2R	60401	broad.mit.edu	37	chrX	65819404	65819404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtgtttccccccaaggtCtcagctccagtataggaggc	8	10	10	13	0	1	0	1	0	1	0	4	1	3	1	4	3	1	3	4	3	3	3			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:65819404C>T	uc004dwt.2	-	5	889	c.879G>A	c.(877-879)gaG>gaA	p.E293E	EDA2R_uc004dwr.3_Intron|EDA2R_uc004dws.3_Silent_p.E272E|EDA2R_uc011mpb.2_Non-coding_Transcript|EDA2R_uc011mpc.2_Silent_p.E148E|EDA2R_uc004dwq.3_Silent_p.E272E|EDA2R_uc022byh.1_Silent_p.E274E	NM_001242310	NP_001229239	Q9HAV5	TNR27_HUMAN	Homo sapiens ectodysplasin A2 receptor (EDA2R), transcript variant 3, mRNA.	272					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity	p.E293E(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CCCCCAAGGTCTCAGCTCCAG	0.547													T	65819404	C	T	65819404	2	4	265	1	0	0	0	0	0	0	0	1	4943	912	32	2		2	EDA2R	23	65819404	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	21115780	65819404	89451156	60	18614											
PCDH11X	27328	broad.mit.edu	37	chrX	91873723	91873723	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggcccaatcatcagtCagtttgcagcaaggttgggt	10	10	12	9	0	4	0	4	0	0	0	4	0	4	0	1	3	2	4	1	3	2	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:91873723C>A	uc004efk.2	+	6	4673	c.3828C>A	c.(3826-3828)gtC>gtA	p.V1276V	PCDH11X_uc004efl.2_Silent_p.V1266V|PCDH11X_uc010nmv.2_3'UTR|PCDH11X_uc004efm.2_Silent_p.V1268V|PCDH11X_uc004efn.2_Silent_p.V1258V|PCDH11X_uc004efo.2_Silent_p.V1239V	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	1276					homophilic cell adhesion	integral to plasma membrane	calcium ion binding	p.V1276V(2)|p.S1275*(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AATCATCAGTCAGTTTGCAGC	0.517													A	91873723	C	A	91873723	2	1	265	1	0	0	0	0	0	0	0	1	11584	813	29	4		4	PCDH11X	23	91873723	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	26054319	91873723	63396837	61	18615											
CSTF2	1478	broad.mit.edu	37	chrX	100075435	100075435	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgtgagagacccagcGgtggatcgttctctacgttc	7	12	12	10	3	1	3	0	2	1	1	4	5	1	4	1	2	2	2	1	2	1	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:100075435G>T	uc004egh.3	+	0	88	c.30G>T	c.(28-30)gcG>gcT	p.A10A	CSTF2_uc010nnd.3_Silent_p.A10A|CSTF2_uc004egi.3_Silent_p.A10A	NM_001325	NP_001316	P33240	CSTF2_HUMAN	Homo sapiens cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa (CSTF2), mRNA.	10					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						GAGACCCAGCGGTGGATCGTT	0.562													T	100075435	G	T	100075435	2	4	265	1	0	0	0	0	0	0	0	1	4017	1103	39	4		4	CSTF2	23	100075435	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	8201712	100075435	55195125	62	18616											
TEX13B	56156	broad.mit.edu	37	chrX	107224498	107224498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcccagagaagacagaCatggctgtttgtactgacct	12	8	10	11	0	0	4	0	1	0	3	0	5	0	4	3	1	2	3	3	1	3	2			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:107224498C>G	uc004enn.1	-	2	844	c.751G>C	c.(751-753)Gtc>Ctc	p.V251L		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	251										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGAAGACAGACATGGCTGTTT	0.552													G	107224498	C	G	107224498	3	3	265	1	0	0	0	0	1	0	0	0	15877	478	17	4	191	4	TEX13B	23	107224498	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	7149063	107224498	48046062	63	18617											
TRPC5	7224	broad.mit.edu	37	chrX	111020072	111020072	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagcctaaattaaaagaGacactcttggatttggcccg	12	11	9	9	1	1	1	0	0	1	1	1	3	1	2	2	2	2	1	2	2	4	5			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:111020072G>A	uc004epl.1	-	10	3310	c.2391C>T	c.(2389-2391)gtC>gtT	p.V797V		NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 5 (TRPC5), mRNA.	797					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						AATTAAAAGAGACACTCTTGG	0.483													A	111020072	G	A	111020072	2	1	265	1	0	0	0	0	0	0	0	1	16683	929	33	2		2	TRPC5	23	111020072	Silent	SNP	G	TCGA-76-4935-01A-01D-1486-08	3795574	111020072	44250488	64	18618											
AFF2	2334	broad.mit.edu	37	chrX	148059892	148059892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctttcctcatcaccacagCtaccgatgtttatcactcct	8	13	4	16	1	3	0	3	0	0	0	5	1	5	0	5	0	2	2	5	0	2	4			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:148059892C>T	uc004fcp.3	+	18	3956	c.3477_splice	c.e18-1	p.C1159_splice	AFF2_uc004fcq.3_Splice_Site_p.C1149_splice|AFF2_uc004fcr.3_Splice_Site_p.C1120_splice|AFF2_uc011mxb.2_Splice_Site_p.C1124_splice|AFF2_uc004fcs.3_Splice_Site_p.C1124_splice|AFF2_uc011mxc.2_Splice_Site_p.C800_splice	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	1159					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATCACCACAGCTACCGATGTT	0.378													T	148059892	C	T	148059892	2	4	265	1	0	0	0	0	0	0	0	1	357	811	28	2		2	AFF2	23	148059892	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	37039820	148059892	7210668	65	18619											
MTMR1	8776	broad.mit.edu	37	chrX	149931076	149931076	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggagctgctggccgtCagggcggagctgcagaagcg	8	5	17	11	3	2	1	2	0	0	1	2	3	2	3	1	4	5	4	1	4	2	0			TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:149931076C>A	uc004feh.1	+	15	2031	c.1896C>A	c.(1894-1896)gtC>gtA	p.V632V	MTMR1_uc011mya.1_Silent_p.V530V|MTMR1_uc004fei.3_Silent_p.V624V|MTMR1_uc004fej.3_Non-coding_Transcript|MTMR1_uc010ntf.3_Intron	NM_003828	NP_003819	Q13613	MTMR1_HUMAN	Homo sapiens myotubularin related protein 1 (MTMR1), mRNA.	624						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGGCCGTCAGGGCGGAGC	0.627													A	149931076	C	A	149931076	2	1	265	1	0	0	0	0	0	0	0	1	10014	813	29	4		4	MTMR1	23	149931076	Silent	SNP	C	TCGA-76-4935-01A-01D-1486-08	1871184	149931076	5339484	66	18620											
ABCD1	215	broad.mit.edu	37	chrX	153008746	153008746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggcaagatcttccaggCggccaaggacgcgggcattg	10	5	16	10	3	1	1	0	0	1	1	2	3	2	3	2	6	0	2	2	6	3	2	rs74315282		TCGA-76-4935-01A-01D-1486-08	TCGA-76-4935-10A-01D-1486-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c8d06abf-437d-4bc9-804b-44345af74f36	7acdfba8-5a3c-4192-923e-1b0c6a34cf91	g.chrX:153008746C>T	uc004fif.2	+	8	2336	c.1937C>T	c.(1936-1938)gCg>gTg	p.A646V		NM_000033	NP_000024	P33897	ABCD1_HUMAN	Homo sapiens ATP-binding cassette, sub-family D (ALD), member 1 (ABCD1), mRNA.	646	ABC transporter.		A -> P (in X-ALD).		fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity	p.Q645Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATCTTCCAGGCGGCCAAGGAC	0.672													T	153008746	C	T	153008746	3	4	265	1	0	0	0	0	1	0	0	0	60	768	27	1	1971	1	ABCD1	23	153008746	Missense_Mutation	SNP	C	TCGA-76-4935-01A-01D-1486-08	3077670	153008746	2261814	67	18621											
GJA5	2702	broad.mit.edu	37	chr1	147230396	147230396	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacctcaggcttctggccAtaacgaacctggatgaaacc	11	7	10	13	1	2	1	1	1	1	0	2	3	2	2	4	4	3	2	4	4	3	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:147230396A>G	uc021ovl.1	-	0	951	c.951T>C	c.(949-951)taT>taC	p.Y317Y	GJA5_uc001eps.1_Silent_p.Y317Y|GJA5_uc001ept.1_Silent_p.Y317Y	NM_181703	NP_859054	P36382	CXA5_HUMAN	Homo sapiens gap junction protein, alpha 5, 40kDa (GJA5), transcript variant B, mRNA.	317					angiogenesis|cell-cell junction assembly|muscle contraction	integral to membrane		p.R316C(1)		breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	20	all_hematologic(923;0.0276)		LUSC - Lung squamous cell carcinoma(543;0.202)			GCTTCTGGCCATAACGAACCT	0.542													G	147230396	A	G	147230396	2	3	266	1	0	0	0	0	0	0	0	1	6460	224	8	3		3	GJA5	1	147230396	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08		147230396	102020225	1	18622											
KPRP	448834	broad.mit.edu	37	chr1	152732251	152732251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgccaggtgtcagaccagGctccatgccagtctcagacc	8	9	10	14	0	2	2	2	0	1	2	4	2	3	2	5	2	2	1	5	2	0	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:152732251G>A	uc001fal.1	+	1	245	c.187G>A	c.(187-189)Gct>Act	p.A63T	KPRP_uc021ozf.1_Missense_Mutation_p.A63T	NM_001025231	NP_001020402	Q5T749	KPRP_HUMAN	Homo sapiens keratinocyte proline-rich protein (KPRP), mRNA.	63	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCAGACCAGGCTCCATGCCA	0.552													A	152732251	G	A	152732251	3	1	266	1	0	0	0	0	1	0	0	0	8494	1203	42	2	189	2	KPRP	1	152732251	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	5501855	152732251	96518370	2	18623											
METTL13	51603	broad.mit.edu	37	chr1	171765699	171765699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggctcaaggcagtgttcCccctcctatatgtccggcga	6	10	11	14	2	1	0	1	0	0	0	4	1	4	0	4	3	0	3	4	3	3	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:171765699C>A	uc001ghz.3	+	7	2250	c.1903C>A	c.(1903-1905)Ccc>Acc	p.P635T	METTL13_uc001gia.3_Missense_Mutation_p.P549T|METTL13_uc001gib.3_Missense_Mutation_p.P479T|METTL13_uc010pml.2_Missense_Mutation_p.P634T|METTL13_uc001gic.1_Non-coding_Transcript	NM_015935	NP_055770	Q8N6R0	MTL13_HUMAN	Homo sapiens methyltransferase like 13 (METTL13), transcript variant 1, mRNA.	635							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						GGCAGTGTTCCCCCTCCTATA	0.498													A	171765699	C	A	171765699	3	1	266	1	0	0	0	0	1	0	0	0	9572	623	22	4	1933	4	METTL13	1	171765699	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	19033448	171765699	77484922	3	18624											
TPR	7175	broad.mit.edu	37	chr1	186289465	186289465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagaagcaagctggcCaagatcagagtgactagaac	14	7	11	9	0	1	5	1	2	0	4	2	6	2	5	2	1	3	2	2	1	5	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr1:186289465C>T	uc001grv.3	-	45	6844	c.6547G>A	c.(6547-6549)Ggc>Agc	p.G2183S	MIR548F1_uc021pgf.1_Intron	NM_003292	NP_003283	P12270	TPR_HUMAN	Homo sapiens translocated promoter region (to activated MET oncogene) (TPR), mRNA.	2183					carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GCAAGCTGGCCAAGATCAGAG	0.418			T	NTRK1	papillary thyroid								T	186289465	C	T	186289465	3	4	266	1	0	0	0	0	1	0	0	0	16517	594	21	2	568	2	TPR	1	186289465	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	14523766	186289465	62961156	4	18625											
KCNJ3	3760	broad.mit.edu	37	chr2	155711520	155711520	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattactacaaaactaccaTctaagctgcagaaaattact	18	11	3	9	0	1	1	0	0	1	1	1	1	1	1	1	0	7	2	1	0	10	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:155711520T>A	uc002tyv.1	+	2	1396	c.1201T>A	c.(1201-1203)Tct>Act	p.S401T	KCNJ3_uc010zce.1_3'UTR	NM_002239	NP_002230	P48549	IRK3_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 3 (KCNJ3), mRNA.	401					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	AAAACTACCATCTAAGCTGCA	0.398													A	155711520	T	A	155711520	3	1	266	1	0	0	0	0	1	0	0	0	8110	1435	50	5	1211	5	KCNJ3	2	155711520	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		155711520	87487853	5	18626											
LRP2	4036	broad.mit.edu	37	chr2	170003375	170003375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggccagttggccaacCaaggtcctcgaaaaccagga	15	4	11	11	1	0	1	0	0	0	1	2	3	1	2	5	4	2	1	5	4	5	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:170003375C>A	uc002ues.3	-	68	12898	c.12685G>T	c.(12685-12687)Ggt>Tgt	p.G4229C		NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	4229					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTTGGCCAACCAAGGTCCTCG	0.448													A	170003375	C	A	170003375	3	1	266	1	0	0	0	0	1	0	0	0	9026	594	21	4	1326	4	LRP2	2	170003375	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	14291855	170003375	73195998	6	18627											
TTC30A	92104	broad.mit.edu	37	chr2	178482747	178482747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagccctcggtggtcatgCccacacctagctcaggatgc	9	7	10	15	1	2	0	2	0	0	0	3	1	2	1	3	3	4	1	3	3	2	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr2:178482747C>T	uc002ulo.3	-	0	948	c.683G>A	c.(682-684)gGc>gAc	p.G228D		NM_152275	NP_689488	Q86WT1	TT30A_HUMAN	Homo sapiens tetratricopeptide repeat domain 30A (TTC30A), mRNA.	228					cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GGTGGTCATGCCCACACCTAG	0.527													T	178482747	C	T	178482747	3	4	266	1	0	0	0	0	1	0	0	0	16800	739	26	2	1318	2	TTC30A	2	178482747	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	8479372	178482747	64716626	7	18628											
PLCL2	23228	broad.mit.edu	37	chr3	17053527	17053527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaggggcctttctgtgAgaaaagggaagaaatccagg	16	7	13	5	0	1	2	0	1	1	2	2	4	2	3	2	4	0	0	2	4	6	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:17053527A>G	uc011awc.2	+	2	2761	c.2665A>G	c.(2665-2667)Aga>Gga	p.R889G	PLCL2_uc011awd.2_Missense_Mutation_p.R771G	NM_001144382	NP_001137854	Q9UPR0	PLCL2_HUMAN	Homo sapiens phospholipase C-like 2 (PLCL2), transcript variant 1, mRNA.	897					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CCTTTCTGTGAGAAAAGGGAA	0.463													G	17053527	A	G	17053527	3	3	266	1	0	0	0	0	1	0	0	0	12117	296	11	3	2689	3	PLCL2	3	17053527	Missense_Mutation	SNP	A	TCGA-76-6191-01A-12D-1696-08		17053527	180968903	8	18629											
TRAK1	22906	broad.mit.edu	37	chr3	42167078	42167078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacattgacctcacaaccgaGcaaattgaagagacgttaaa	18	7	7	9	2	1	3	1	2	0	1	1	5	1	3	2	0	3	2	2	0	6	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:42167078G>A	uc003cky.3	+	1	474	c.258G>A	c.(256-258)gaG>gaA	p.E86E	TRAK1_uc011azh.2_Silent_p.E86E|TRAK1_uc011azi.2_Silent_p.E86E	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN	Homo sapiens trafficking protein, kinesin binding 1 (TRAK1), transcript variant 1, mRNA.	86	HAP1 N-terminal.				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						TCACAACCGAGCAAATTGAAG	0.443													A	42167078	G	A	42167078	2	1	266	1	0	0	0	0	0	0	0	1	16550	962	34	2		2	TRAK1	3	42167078	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	25113551	42167078	155855352	9	18630											
OR5H1	26341	broad.mit.edu	37	chr3	97852415	97852415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatcctatcatctacagtCtgagaaataagcaagtcaca	17	10	5	9	0	4	1	2	1	2	1	5	2	5	1	1	0	2	1	1	0	7	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:97852415C>T	uc011bgt.2	+	0	874	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L		NM_001005338	NP_001005338	A6NKK0	OR5H1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily H, member 1 (OR5H1), mRNA.	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						CATCTACAGTCTGAGAAATAA	0.348													T	97852415	C	T	97852415	2	4	266	1	0	0	0	0	0	0	0	1	11235	912	32	2		2	OR5H1	3	97852415	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	55685337	97852415	100170015	10	18631											
OR5K1	26339	broad.mit.edu	37	chr3	98189045	98189045	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcaggttcagttcaagtcTttaccataggtagtgtctta	9	16	8	8	0	5	0	3	0	3	0	6	0	5	0	1	2	1	3	1	2	5	7			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:98189045T>A	uc003dsm.3	+	0	625	c.625T>A	c.(625-627)Ttt>Att	p.F209I		NM_001004736	NP_001004736	Q8NHB7	OR5K1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 1 (OR5K1), mRNA.	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGTTCAAGTCTTTACCATAGG	0.353													A	98189045	T	A	98189045	3	1	266	1	0	0	0	0	1	0	0	0	11242	1609	56	5	627	5	OR5K1	3	98189045	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	336630	98189045	99833385	11	18632											
EHHADH	1962	broad.mit.edu	37	chr3	184910535	184910535	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctattacccctttttcGggcaggagttcctggaagca	7	12	9	13	1	0	0	0	0	0	0	3	2	2	2	5	3	2	3	5	3	3	5	rs138388673	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr3:184910535G>A	uc003fpf.3	-	6	1727	c.1651C>T	c.(1651-1653)Cga>Tga	p.R551*	EHHADH_uc011brs.2_Nonsense_Mutation_p.R455*	NM_001966	NP_001957	Q08426	ECHP_HUMAN	Homo sapiens enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase (EHHADH), transcript variant 1, mRNA.	551	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	CCCCTTTTTCGGGCAGGAGTT	0.473													A	184910535	G	A	184910535	4	1	266	1	0	0	0	0	0	1	0	0	5021	1124	39	1	524	1	EHHADH	3	184910535	Nonsense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	86721490	184910535	13111895	12	18633											
RGS12	6002	broad.mit.edu	37	chr4	3319669	3319669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtggagggcagcttcgCgcagcccccgctgaatgccc	6	5	15	15	3	0	1	0	1	0	0	1	2	0	2	3	3	3	4	3	3	1	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:3319669C>T	uc003ggw.3	+	1	2676	c.1772C>T	c.(1771-1773)gCg>gTg	p.A591V	RGS12_uc003ggu.2_Missense_Mutation_p.A591V|RGS12_uc010ics.1_Intron|RGS12_uc011bvr.1_Non-coding_Transcript|RGS12_uc003ggv.3_Missense_Mutation_p.A591V|RGS12_uc003ggx.1_Missense_Mutation_p.A591V	NM_198229	NP_937872	O14924	RGS12_HUMAN	Homo sapiens regulator of G-protein signaling 12 (RGS12), transcript variant 1, mRNA.	591						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GGCAGCTTCGCGCAGCCCCCG	0.577													T	3319669	C	T	3319669	3	4	266	1	0	0	0	0	1	0	0	0	13384	768	27	1	1774	1	RGS12	4	3319669	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		3319669	187834607	13	18634											
AFM	173	broad.mit.edu	37	chr4	74367504	74367504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgacatcttttggccacagGtttcttgtcaacttagtgaa	9	16	8	8	0	3	2	1	2	2	0	3	2	3	2	1	2	1	1	1	2	3	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:74367504G>C	uc003hhb.3	+	13	1678	c.1647_splice	c.e13-1	p.R549_splice		NM_001133	NP_001124	P43652	AFAM_HUMAN	Homo sapiens afamin (AFM), mRNA.	549	Albumin 3.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGCCACAGGTTTCTTGTCA	0.388													C	74367504	G	C	74367504	3	2	266	1	0	0	0	0	1	0	0	0	361	1275	44	4	1697	4	AFM	4	74367504	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	71047835	74367504	116786772	14	18635											
RXFP1	59350	broad.mit.edu	37	chr4	159554592	159554592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagattgaaaatcttccacCgcttatattcaaggacctga	14	12	6	9	1	2	3	1	2	1	1	3	4	3	4	3	1	0	1	3	1	6	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:159554592C>T	uc003ipz.3	+	11	1198	c.935C>T	c.(934-936)cCg>cTg	p.P312L	RXFP1_uc010iqj.2_Missense_Mutation_p.P141L|RXFP1_uc010iqk.3_Missense_Mutation_p.P180L|RXFP1_uc011cja.2_Missense_Mutation_p.P207L|RXFP1_uc010iqo.3_Intron|RXFP1_uc011cjb.2_Intron|RXFP1_uc011cjc.2_Missense_Mutation_p.P231L|RXFP1_uc011cjd.2_Missense_Mutation_p.P231L|RXFP1_uc010iql.3_Missense_Mutation_p.P156L|RXFP1_uc011cje.2_Missense_Mutation_p.P339L|RXFP1_uc010iqm.3_Missense_Mutation_p.P279L|RXFP1_uc011cjf.2_Missense_Mutation_p.P182L|RXFP1_uc010iqn.3_Missense_Mutation_p.P258L	NM_021634	NP_067647	Q9HBX9	RXFP1_HUMAN	Homo sapiens relaxin/insulin-like family peptide receptor 1 (RXFP1), transcript variant 1, mRNA.	312						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		AATCTTCCACCGCTTATATTC	0.289													T	159554592	C	T	159554592	3	4	266	1	0	0	0	0	1	0	0	0	13850	652	23	1	981	1	RXFP1	4	159554592	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	85187088	159554592	31599684	15	18636											
SPOCK3	50859	broad.mit.edu	37	chr4	167663205	167663205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgagctcagtctggcaagGtgggtctgcaatgacattaa	10	10	13	8	0	3	2	1	2	2	0	3	2	3	2	0	3	2	4	0	3	3	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr4:167663205G>T	uc011cjq.1	-	7	1030	c.973C>A	c.(973-975)Cct>Act	p.P325T	SPOCK3_uc021xuf.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjr.1_Missense_Mutation_p.P196T|SPOCK3_uc003iri.1_Missense_Mutation_p.P316T|SPOCK3_uc011cjs.1_Missense_Mutation_p.P265T|SPOCK3_uc003irj.1_Missense_Mutation_p.P313T|SPOCK3_uc011cjt.1_Missense_Mutation_p.P224T|SPOCK3_uc011cjp.2_Missense_Mutation_p.P273T|SPOCK3_uc011cju.1_Missense_Mutation_p.P220T|SPOCK3_uc011cjv.1_Missense_Mutation_p.P218T	NM_001204353	NP_001191282	Q9BQ16	TICN3_HUMAN	Homo sapiens sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3 (SPOCK3), transcript variant 4, mRNA.	316	Thyroglobulin type-1.				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	p.R324L(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		GTCTGGCAAGGTGGGTCTGCA	0.373													T	167663205	G	T	167663205	3	4	266	1	0	0	0	0	1	0	0	0	15177	1261	44	4	376	4	SPOCK3	4	167663205	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	8108613	167663205	23491071	16	18637											
NMUR2	56923	broad.mit.edu	37	chr5	151775094	151775094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaaagctgaagaagagtCggtcaatgtggaacggggcc	13	5	14	9	2	1	3	1	1	0	2	2	4	1	4	2	4	2	1	2	4	5	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr5:151775094C>T	uc003luv.2	-	2	1029	c.863G>A	c.(862-864)cGa>cAa	p.R288Q		NM_020167	NP_064552	Q9GZQ4	NMUR2_HUMAN	Homo sapiens neuromedin U receptor 2 (NMUR2), mRNA.	288					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity	p.R288R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GAAGAAGAGTCGGTCAATGTG	0.483													T	151775094	C	T	151775094	3	4	266	1	0	0	0	0	1	0	0	0	10583	884	31	1	392	1	NMUR2	5	151775094	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		151775094	29140166	17	18638											
DDAH2	23564	broad.mit.edu	37	chr6	31696723	31696723	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgtcgccaagcagcggTcccagcggcaatgactcctc	7	6	12	16	4	0	1	0	1	0	0	4	1	2	1	4	2	3	2	4	2	2	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:31696723T>C	uc003nwp.3	-	0	847	c.216A>G	c.(214-216)ggA>ggG	p.G72G	DDAH2_uc003nwq.3_Silent_p.G72G	NM_013974	NP_039268	O95865	DDAH2_HUMAN	Homo sapiens dimethylarginine dimethylaminohydrolase 2 (DDAH2), mRNA.	72					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	CAAGCAGCGGTCCCAGCGGCA	0.662													C	31696723	T	C	31696723	2	2	266	1	0	0	0	0	0	0	0	1	4356	1654	58	3		3	DDAH2	6	31696723	Silent	SNP	T	TCGA-76-6191-01A-12D-1696-08		31696723	139418344	18	18639											
LPA	4018	broad.mit.edu	37	chr6	161007524	161007524	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggaactgggaccaccgtGggagttgtgaggagagttga	9	9	17	6	1	0	3	0	2	0	1	0	7	0	6	2	4	1	2	2	4	1	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:161007524G>T	uc003qtl.3	-	25	4206	c.4086C>A	c.(4084-4086)ccC>ccA	p.P1362P		NM_005577	NP_005568	P08519	APOA_HUMAN	Homo sapiens lipoprotein, Lp(a) (LPA), mRNA.	3870	Kringle 12.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGACCACCGTGGGAGTTGTGA	0.498													T	161007524	G	T	161007524	2	4	266	1	0	0	0	0	0	0	0	1	8973	1335	47	4		4	LPA	6	161007524	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	129310801	161007524	10107543	19	18640											
CCR6	1235	broad.mit.edu	37	chr6	167549965	167549965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaggtctatgacagacGtctatctcttgaacatggcc	10	10	10	11	1	3	3	0	2	3	1	4	3	3	3	2	3	1	0	2	3	3	3	rs76452893	by1000genomes	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr6:167549965G>A	uc003qvl.3	+	12	2723	c.247G>A	c.(247-249)Gtc>Atc	p.V83I	CCR6_uc010kkm.3_Missense_Mutation_p.V83I|CCR6_uc003qvn.4_Missense_Mutation_p.V83I|CCR6_uc003qvm.4_Missense_Mutation_p.V83I	NM_031409	NP_113597	P51684	CCR6_HUMAN	Homo sapiens chemokine (C-C motif) receptor 6 (CCR6), transcript variant 2, mRNA.	83					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TATGACAGACGTCTATCTCTT	0.488													A	167549965	G	A	167549965	3	1	266	1	0	0	0	0	1	0	0	0	2975	1145	40	1	253	1	CCR6	6	167549965	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	6542441	167549965	3565102	20	18641											
USP42	84132	broad.mit.edu	37	chr7	6189342	6189342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagcttctgtccaaaactgGtcagttaataggtcctcagt	10	13	8	10	0	4	0	3	0	1	0	6	0	6	0	2	2	2	2	2	2	4	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:6189342G>T	uc011jwo.1	+	12	1638	c.1515G>T	c.(1513-1515)tgG>tgT	p.W505C	USP42_uc010kth.1_Missense_Mutation_p.W438C|USP42_uc011jwp.2_Missense_Mutation_p.W505C|USP42_uc011jwq.2_Missense_Mutation_p.W312C|USP42_uc011jwr.1_Missense_Mutation_p.W350C	NM_032172	NP_115548	Q9H9J4	UBP42_HUMAN	Homo sapiens ubiquitin specific peptidase 42 (USP42), mRNA.	505					cell differentiation|protein deubiquitination|spermatogenesis|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		TCCAAAACTGGTCAGTTAATA	0.443													T	6189342	G	T	6189342	3	4	266	1	0	0	0	0	1	0	0	0	17175	1270	44	4	1561	4	USP42	7	6189342	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		6189342	152949321	21	18642											
SKAP2	8935	broad.mit.edu	37	chr7	26779515	26779515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcagtttaccttttctgcGtttttcaaggtagccagcct	6	17	7	11	1	3	0	2	0	1	0	3	0	3	0	3	1	4	3	3	1	3	8			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:26779515G>A	uc003syc.3	-	4	669	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	SKAP2_uc011jzi.2_5'UTR|SKAP2_uc011jzj.2_Missense_Mutation_p.R111C	NM_003930	NP_003921	O75563	SKAP2_HUMAN	Homo sapiens src kinase associated phosphoprotein 2 (SKAP2), mRNA.	126	PH.				B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity	p.R126C(2)		haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						CCTTTTCTGCGTTTTTCAAGG	0.373													A	26779515	G	A	26779515	3	1	266	1	0	0	0	0	1	0	0	0	14450	1145	40	1	735	1	SKAP2	7	26779515	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	20590173	26779515	132359148	22	18643											
EGFR	1956	broad.mit.edu	37	chr7	55233110	55233110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccatgtgtgccacctgtgCcatccaaactgcacctacgg	8	8	10	15	1	0	0	0	0	0	0	1	0	1	0	6	2	5	1	6	2	2	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:55233110C>G	uc003tqk.3	+	14	2106	c.1860C>G	c.(1858-1860)tgC>tgG	p.C620W	EGFR_uc003tqi.3_Missense_Mutation_p.C620W|EGFR_uc003tqj.3_Missense_Mutation_p.C620W|EGFR_uc022adm.1_Missense_Mutation_p.C620W|EGFR_uc010kzg.2_Missense_Mutation_p.C575W|EGFR_uc022adn.1_Missense_Mutation_p.C575W|EGFR_uc011kco.2_Missense_Mutation_p.C567W|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Non-coding_Transcript|EGFR_uc003tqn.3_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	620					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.C620W(2)|p.C620Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCCACCTGTGCCATCCAAACT	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55233110	C	G	55233110	3	3	266	1	0	0	0	0	1	0	0	0	5006	747	26	4	1929	4	EGFR	7	55233110	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	28453595	55233110	103905553	23	18644											
CCDC132	55610	broad.mit.edu	37	chr7	92932809	92932809	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagaatgttcttagagaatGagacttgggaactttgtcct	11	14	11	5	0	1	3	0	2	1	3	2	7	2	4	1	1	1	1	1	1	4	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:92932809G>C	uc003umo.3	+	16	1527	c.1399G>C	c.(1399-1401)Gag>Cag	p.E467Q	CCDC132_uc003ump.3_Missense_Mutation_p.E437Q|CCDC132_uc003umr.3_Non-coding_Transcript|CCDC132_uc011khz.2_Missense_Mutation_p.E187Q	NM_017667	NP_060137	Q96JG6	CC132_HUMAN	Homo sapiens coiled-coil domain containing 132 (CCDC132), transcript variant 1, mRNA.	467										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTAGAGAATGAGACTTGGGA	0.343													C	92932809	G	C	92932809	3	2	266	1	0	0	0	0	1	0	0	0	2793	1291	45	4	1507	4	CCDC132	7	92932809	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	37699699	92932809	66205854	24	18645											
TRRAP	8295	broad.mit.edu	37	chr7	98547126	98547126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcaccctgctgctgccgggGggtgcccagacggctgtgcg	4	7	16	14	3	1	1	1	0	0	1	1	1	1	1	3	4	5	3	3	4	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:98547126G>A	uc003upp.3	+	34	5063	c.4854G>A	c.(4852-4854)ggG>ggA	p.G1618G	TRRAP_uc011kis.2_Silent_p.G1600G|TRRAP_uc003upr.3_Silent_p.G1317G	NM_001244580	NP_001231509	Q9Y4A5	TRRAP_HUMAN	Homo sapiens transformation/transcription domain-associated protein (TRRAP), transcript variant 1, mRNA.	1618					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCTGCCGGGGGGTGCCCAGA	0.617													A	98547126	G	A	98547126	2	1	266	1	0	0	0	0	0	0	0	1	16702	1219	43	2		2	TRRAP	7	98547126	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	5614317	98547126	60591537	25	18646											
CUL1	8454	broad.mit.edu	37	chr7	148495685	148495685	+	Frame_Shift_Del	DEL	C	C	-																															aagaaattaagggttaacatCaatgtgccaatgaaaaccga																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr7:148495685delC	uc010lpg.3	+	19	2578	c.2052delC	c.(2050-2052)atcfs	p.I684fs	CUL1_uc003wey.3_Frame_Shift_Del_p.I684fs|CUL1_uc003wez.3_Frame_Shift_Del_p.I574fs|CUL1_uc003wfa.3_Frame_Shift_Del_p.I345fs	NM_003592	NP_003583	Q13616	CUL1_HUMAN	Homo sapiens cullin 1 (CUL1), mRNA.	684					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GGGTTAACATCAATGTGCCAA	0.373													-	148495685	C	-	148495685	7	5	266	1	0	1	0	1	0	0	0	0	4087	816	29	0	2126	0	CUL1	7	148495685	Frame_Shift_Del	DEL	C	TCGA-76-6191-01A-12D-1696-08	49948559	148495685	10642978	26	18647											
SOX7	83595	broad.mit.edu	37	chr8	10583718	10583718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcaggtgggggatgcGgcggggatggccatgctcct	4	7	19	11	2	0	0	0	0	0	0	1	2	1	2	3	8	2	2	3	8	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:10583718G>A	uc011kwz.2	-	5	886	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	SOX7_uc003wtf.3_Missense_Mutation_p.R233C	NM_031439	NP_113627	Q9BT81	SOX7_HUMAN	Homo sapiens SRY (sex determining region Y)-box 7 (SOX7), mRNA.	233	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding	p.S285F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TGGGGGATGCGGCGGGGATGG	0.692													A	10583718	G	A	10583718	3	1	266	1	0	0	0	0	1	0	0	0	15050	1116	39	1	473	1	SOX7	8	10583718	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		10583718	135780304	27	18648											
DOK2	9046	broad.mit.edu	37	chr8	21767417	21767417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccagagacgcagcgaCggcctgcctcaaaggaaaag	12	4	11	14	3	2	1	1	0	1	1	3	4	2	2	4	2	2	1	4	2	3	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:21767417C>T	uc003wzx.1	-	4	737	c.644G>A	c.(643-645)cGt>cAt	p.R215H	DOK2_uc003wzy.1_Missense_Mutation_p.R215H|DOK2_uc003wzz.1_Missense_Mutation_p.R61H|DOK2_uc010lth.1_Missense_Mutation_p.R61H	NM_003974	NP_003965	O60496	DOK2_HUMAN	Homo sapiens docking protein 2, 56kDa (DOK2), mRNA.	215	IRS-type PTB.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding	p.G214F(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GACGCAGCGACGGCCTGCCTC	0.522													T	21767417	C	T	21767417	3	4	266	1	0	0	0	0	1	0	0	0	4736	536	19	1	598	1	DOK2	8	21767417	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	11183699	21767417	124596605	28	18649											
KCNU1	157855	broad.mit.edu	37	chr8	36642023	36642023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcattcattctctcttcctTtgtgaccttcttcagtggac	6	17	6	12	0	5	1	2	1	3	0	7	2	6	2	2	1	1	1	2	1	0	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:36642023T>C	uc010lvw.3	+	0	182	c.95T>C	c.(94-96)tTt>tCt	p.F32S	KCNU1_uc003xjw.2_Non-coding_Transcript	NM_001031836	NP_001027006	A8MYU2	KCNU1_HUMAN	Homo sapiens potassium channel, subfamily U, member 1 (KCNU1), mRNA.	32						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CTCTCTTCCTTTGTGACCTTC	0.413													C	36642023	T	C	36642023	3	2	266	1	0	0	0	0	1	0	0	0	8151	1841	64	3	97	3	KCNU1	8	36642023	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	14874606	36642023	109721999	29	18650											
ZFAND1	79752	broad.mit.edu	37	chr8	82626245	82626245	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttggcacctttccatcGtttacttgctgtttctcctg	4	20	6	11	1	1	0	0	0	1	0	4	0	2	0	3	1	2	4	3	1	1	7			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:82626245G>A	uc003ycj.2	-	5	411	c.388C>T	c.(388-390)Cga>Tga	p.R130*	ZFAND1_uc010lzx.2_Nonsense_Mutation_p.R130*|ZFAND1_uc022awt.1_Non-coding_Transcript|ZFAND1_uc022awu.1_Nonsense_Mutation_p.R23*|ZFAND1_uc003yck.2_Nonsense_Mutation_p.R23*|ZFAND1_uc022awv.1_Nonsense_Mutation_p.R130*|ZFAND1_uc022aww.1_Nonsense_Mutation_p.R23*	NM_024699	NP_078975	Q8TCF1	ZFAN1_HUMAN	Homo sapiens zinc finger, AN1-type domain 1 (ZFAND1), transcript variant 1, mRNA.	130							zinc ion binding	p.R130*(6)		kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCTTTCCATCGTTTACTTGCT	0.343													A	82626245	G	A	82626245	4	1	266	1	0	0	0	0	0	1	0	0	17727	1153	40	1	478	1	ZFAND1	8	82626245	Nonsense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	45984222	82626245	63737777	30	18651											
ANKRD46	157567	broad.mit.edu	37	chr8	101541822	101541823	+	Frame_Shift_Del	DEL	TG	TG	-																															tggccacagaggtgaagagcTgtgtttccttgataatctgt																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr8:101541822_101541823delTG	uc003yjo.1	-	3	548_549	c.239_240delCA	c.(238-240)acafs	p.T80fs	ANKRD46_uc003yjm.3_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjn.1_Frame_Shift_Del_p.T80fs|ANKRD46_uc003yjp.1_Frame_Shift_Del_p.T80fs	NM_198401	NP_940683	Q86W74	ANR46_HUMAN	Homo sapiens ankyrin repeat domain 46 (ANKRD46), mRNA.	80						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			GGTGAAGAGCTGTGTTTCCTTG	0.436													-	101541823	TG	-	101541822	7	5	266	1	0	1	0	1	0	0	0	0	674	1567	55	0	458	0	ANKRD46	8	101541822	Frame_Shift_Del	DEL	TG	TCGA-76-6191-01A-12D-1696-08	18915577	101541822	44822200	31	18652											
GRIN3A	116443	broad.mit.edu	37	chr9	104335628	104335628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttcccattggtggtcCgcaaggcagggagctctctt	5	12	12	12	1	1	0	0	0	1	0	4	1	3	1	2	4	2	4	2	4	1	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:104335628C>T	uc004bbp.2	-	8	3777	c.3176G>A	c.(3175-3177)cGg>cAg	p.R1059Q	GRIN3A_uc004bbo.2_Missense_Mutation_p.R134Q	NM_133445	NP_597702	Q8TCU5	NMD3A_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl-D-aspartate 3A (GRIN3A), mRNA.	1059					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding	p.R1059Q(2)		breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATTGGTGGTCCGCAAGGCAGG	0.527													T	104335628	C	T	104335628	3	4	266	1	0	0	0	0	1	0	0	0	6838	652	23	1	175	1	GRIN3A	9	104335628	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		104335628	36877803	32	18653											
DBC1	1620	broad.mit.edu	37	chr9	122000991	122000991	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaactcacagagtccagAttgtcatagctgttacagcc	12	9	9	11	1	2	2	2	0	0	2	3	3	3	3	2	1	4	2	2	1	3	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr9:122000991A>G	uc004bkc.2	-	4	1083	c.627T>C	c.(625-627)aaT>aaC	p.N209N	DBC1_uc004bkd.2_Silent_p.N209N	NM_014618	NP_055433	O60477	DBC1_HUMAN	Homo sapiens deleted in bladder cancer 1 (DBC1), mRNA.	209	MACPF.				cell cycle arrest|cell death	cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(15)|liver(1)|lung(34)|ovary(3)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						CAGAGTCCAGATTGTCATAGC	0.507													G	122000991	A	G	122000991	2	3	266	1	0	0	0	0	0	0	0	1	4281	330	12	3		3	DBC1	9	122000991	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08	17665363	122000991	19212440	33	18654											
PTEN	5728	broad.mit.edu	37	chr10	89624299	89624299	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatggattcgacttagacTtgacctgtatccatttctgc	9	14	9	9	1	1	2	0	1	1	1	3	5	2	4	2	2	1	1	2	2	2	5			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr10:89624299T>G	uc001kfb.3	+	0	1105	c.73T>G	c.(73-75)Ttg>Gtg	p.L25V	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	25	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.D24Y(5)|p.D24G(4)|p.D24E(2)|p.D24N(2)|p.L25F(2)|p.D24_L25del(2)|p.D24fs*19(2)|p.D24fs*20(2)|p.L25fs*28(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGACTTAGACTTGACCTGTAT	0.463		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624299	T	G	89624299	3	3	266	1	0	0	0	0	1	0	0	0	12823	1606	56	5	75	5	PTEN	10	89624299	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		89624299	45910448	34	18655											
TSPAN32	10077	broad.mit.edu	37	chr11	2334954	2334954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggtacgtcccacgtccGgcggcaggagctggcggcca	8	4	16	13	5	0	0	0	0	0	0	2	2	2	1	3	6	2	3	3	6	2	1	rs138129469		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:2334954G>A	uc001lvy.1	+	4	562	c.425G>A	c.(424-426)cGg>cAg	p.R142Q	TSPAN32_uc001lvx.1_Intron|TSPAN32_uc009ydk.1_Missense_Mutation_p.R152Q|TSPAN32_uc010qxk.2_Missense_Mutation_p.R177Q|TSPAN32_uc009ydl.1_Non-coding_Transcript|TSPAN32_uc001lvz.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwb.1_Missense_Mutation_p.R112Q|TSPAN32_uc001lwc.1_Missense_Mutation_p.R87Q|TSPAN32_uc001lwd.1_5'Flank	NM_139022	NP_620591	Q96QS1	TSN32_HUMAN	Homo sapiens tetraspanin 32 (TSPAN32), mRNA.	142					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TCCCACGTCCGGCGGCAGGAG	0.647													A	2334954	G	A	2334954	3	1	266	1	0	0	0	0	1	0	0	0	16748	1116	39	1	443	1	TSPAN32	11	2334954	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		2334954	132671562	35	18656											
OR52R1	119695	broad.mit.edu	37	chr11	4825512	4825512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcatacgtggcacagaaCggaaaggcaatccacaactg	16	4	10	11	2	0	1	0	0	0	1	1	2	1	2	1	3	4	3	1	3	5	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:4825512C>T	uc021qcs.1	-	0	99	c.99G>A	c.(97-99)ccG>ccA	p.P33P		NM_001005177	NP_001005177	Q8NGF1	O52R1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily R, member 1 (OR52R1), mRNA.	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACAGAACGGAAAGGCAA	0.512													T	4825512	C	T	4825512	2	4	266	1	0	0	0	0	0	0	0	1	11207	523	19	1		1	OR52R1	11	4825512	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	2490558	4825512	130181004	36	18657											
OR5D14	219436	broad.mit.edu	37	chr11	55563722	55563722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgactgtactaaaaatcCgttctgttagtgggcgccac	9	13	10	9	2	1	1	0	1	1	0	2	1	2	1	2	1	1	3	2	1	5	5	rs143761060		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:55563722C>T	uc010rim.2	+	0	691	c.691C>T	c.(691-693)Cgt>Tgt	p.R231C		NM_001004735	NP_001004735	Q8NGL3	OR5DE_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 14 (OR5D14), mRNA.	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ACTAAAAATCCGTTCTGTTAG	0.473													T	55563722	C	T	55563722	3	4	266	1	0	0	0	0	1	0	0	0	11231	652	23	1	693	1	OR5D14	11	55563722	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	50738210	55563722	79442794	37	18658											
MS4A6E	245802	broad.mit.edu	37	chr11	60102450	60102450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcccaagcagagaaacccGaacccaccaaccaggggcag	14	2	9	16	1	1	1	0	0	1	1	2	3	1	1	5	2	4	2	5	2	4	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60102450G>A	uc001npd.3	+	0	96	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K		NM_139249	NP_640342	Q96DS6	M4A6E_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 6E (MS4A6E), mRNA.	28						integral to membrane	receptor activity	p.E28*(2)		endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						AGAGAAACCCGAACCCACCAA	0.443													A	60102450	G	A	60102450	3	1	266	1	0	0	0	0	1	0	0	0	9941	1059	37	1	84	1	MS4A6E	11	60102450	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	4538728	60102450	74904066	38	18659											
MS4A14	84689	broad.mit.edu	37	chr11	60183031	60183031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgattcaacaacaaatgCacaatctgttatctttggag	14	13	7	7	0	3	2	1	2	2	0	3	3	3	3	0	1	3	2	0	1	5	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60183031C>T	uc001npj.3	+	4	1155	c.590C>T	c.(589-591)gCa>gTa	p.A197V	MS4A14_uc001npi.3_Missense_Mutation_p.A85V|MS4A14_uc001npn.3_5'UTR|MS4A14_uc001npk.3_Missense_Mutation_p.A180V|MS4A14_uc001npl.3_5'UTR|MS4A14_uc001npm.3_5'UTR	NM_032597	NP_115986	Q96JA4	M4A14_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 14 (MS4A14), transcript variant 1, mRNA.	197						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						ACAACAAATGCACAATCTGTT	0.378													T	60183031	C	T	60183031	3	4	266	1	0	0	0	0	1	0	0	0	9934	710	25	2	608	2	MS4A14	11	60183031	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	80581	60183031	74823485	39	18660											
MS4A12	54860	broad.mit.edu	37	chr11	60271232	60271232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggccttcattggagtgaTtctgctgctggtggatatgt	5	16	13	7	0	2	1	1	1	1	0	2	3	2	3	1	4	2	2	1	4	1	5			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:60271232T>C	uc001npr.3	+	4	587	c.530T>C	c.(529-531)aTt>aCt	p.I177T	MS4A12_uc021qkb.1_Missense_Mutation_p.I131T	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	177						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						ATTGGAGTGATTCTGCTGCTG	0.458													C	60271232	T	C	60271232	3	2	266	1	0	0	0	0	1	0	0	0	9932	1493	52	3	544	3	MS4A12	11	60271232	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	88201	60271232	74735284	40	18661											
PPFIA1	8500	broad.mit.edu	37	chr11	70181755	70181755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttcagaatctaatgagagGcttcaacttcatcttaaaga	14	13	6	8	0	5	3	3	1	2	3	5	4	5	3	0	1	1	1	0	1	5	5			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:70181755G>A	uc001opo.3	+	10	1598	c.1383G>A	c.(1381-1383)agG>agA	p.R461R	PPFIA1_uc001opn.2_Silent_p.R461R|PPFIA1_uc001opp.3_Non-coding_Transcript|PPFIA1_uc001opq.1_Non-coding_Transcript	NM_003626	NP_003617	Q13136	LIPA1_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 (PPFIA1), transcript variant 2, mRNA.	461					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			CTAATGAGAGGCTTCAACTTC	0.403													A	70181755	G	A	70181755	2	1	266	1	0	0	0	0	0	0	0	1	12386	1194	42	2		2	PPFIA1	11	70181755	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	9910523	70181755	64824761	41	18662											
CADM1	23705	broad.mit.edu	37	chr11	115111056	115111056	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgaatcacagagtcgTcactcttattgacttggcaa	11	12	9	9	1	3	3	2	2	1	1	4	3	3	3	0	1	1	3	0	1	4	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:115111056T>A	uc001ppi.4	-	1	338	c.209A>T	c.(208-210)gAc>gTc	p.D70V	CADM1_uc001ppf.4_Missense_Mutation_p.D70V|CADM1_uc001ppk.4_Missense_Mutation_p.D70V|CADM1_uc001ppj.4_Missense_Mutation_p.D70V|CADM1_uc001ppl.3_Missense_Mutation_p.D70V	NM_014333	NP_055148	Q9BY67	CADM1_HUMAN	Homo sapiens cell adhesion molecule 1 (CADM1), transcript variant 1, mRNA.	70	Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CACAGAGTCGTCACTCTTATT	0.443													A	115111056	T	A	115111056	3	1	266	1	0	0	0	0	1	0	0	0	2592	1667	58	5	1155	5	CADM1	11	115111056	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08	44929301	115111056	19895460	42	18663											
CHEK1	1111	broad.mit.edu	37	chr11	125503132	125503132	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcgtttgttgaacaagAtgtgtggtactttaccatat	10	15	11	5	1	0	3	0	2	0	1	0	3	0	3	1	1	4	3	1	1	5	6			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr11:125503132A>T	uc009zbo.3	+	5	1396	c.499A>T	c.(499-501)Atg>Ttg	p.M167L	CHEK1_uc010sbi.2_Missense_Mutation_p.M167L|CHEK1_uc010sbh.2_Missense_Mutation_p.M183L|CHEK1_uc001qcf.4_Missense_Mutation_p.M167L|CHEK1_uc009zbp.3_Missense_Mutation_p.M167L|CHEK1_uc001qcg.4_Missense_Mutation_p.M167L	NM_001114122	NP_001107594	O14757	CHK1_HUMAN	Homo sapiens checkpoint kinase 1 (CHEK1), transcript variant 1, mRNA.	167	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity	p.K166N(1)		central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTTGAACAAGATGTGTGGTAC	0.378								Other conserved DNA damage response genes					T	125503132	A	T	125503132	3	4	266	1	0	0	0	0	1	0	0	0	3364	333	12	5	517	5	CHEK1	11	125503132	Missense_Mutation	SNP	A	TCGA-76-6191-01A-12D-1696-08	10392076	125503132	9503384	43	18664											
PLCZ1	89869	broad.mit.edu	37	chr12	18836249	18836249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggaaaacagaggaataCgacgataacctgcaaaagga	18	6	10	7	2	1	1	0	0	1	1	1	6	1	4	1	3	4	1	1	3	7	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:18836249C>T	uc021qvx.1	-	14	1942	c.1751G>A	c.(1750-1752)cGt>cAt	p.R584H	PLCZ1_uc001rdv.4_Missense_Mutation_p.R480H|PLCZ1_uc001rdw.4_Missense_Mutation_p.R325H|PLCZ1_uc001rdu.1_Missense_Mutation_p.R366H|PLCZ1_uc009zil.1_Non-coding_Transcript	NM_033123	NP_149114	Q86YW0	PLCZ1_HUMAN	Homo sapiens phospholipase C, zeta 1 (PLCZ1), mRNA.	584					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.R584C(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CAGAGGAATACGACGATAACC	0.378													T	18836249	C	T	18836249	3	4	266	1	0	0	0	0	1	0	0	0	12121	536	19	1	79	1	PLCZ1	12	18836249	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		18836249	115015646	44	18665											
OR6C75	390323	broad.mit.edu	37	chr12	55758922	55758922	+	Frame_Shift_Del	DEL	T	T	-																															attccacagcagtaacagacTttattcttcttggattgaca																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:55758922delT	uc010spk.2	+	0	28	c.28delT	c.(28-30)tttfs	p.F10fs		NM_001005497	NP_001005497	A6NL08	O6C75_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 75 (OR6C75), mRNA.	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)	25						AGTAACAGACTTTATTCTTCT	0.353													-	55758922	T	-	55758922	7	5	266	1	0	1	0	1	0	0	0	0	11275	1609	56	0	30	0	OR6C75	12	55758922	Frame_Shift_Del	DEL	T	TCGA-76-6191-01A-12D-1696-08	36922673	55758922	78092973	45	18666											
EP400	57634	broad.mit.edu	37	chr12	132491424	132491424	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctagcttgtaacgaaggTaagagtttgctagttttttt	10	16	9	6	1	0	1	0	0	0	1	0	2	0	1	1	1	3	6	1	1	5	9			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr12:132491424T>C	uc001ujn.3	+	15	3456	c.3304_splice	c.e15+2	p.G1102_splice	EP400_uc021rgq.1_Splice_Site_p.G1101_splice|EP400_uc001ujm.3_Splice_Site_p.G1102_splice	NM_015409	NP_056224	Q96L91	EP400_HUMAN	Homo sapiens E1A binding protein p400 (EP400), mRNA.	1138	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		GTAACGAAGGTAAGAGTTTGC	0.413													C	132491424	T	C	132491424	5	2	266	1	0	0	0	0	0	0	1	0	5190	1652	57	3	3357	3	EP400	12	132491424	Splice_Site	SNP	T	TCGA-76-6191-01A-12D-1696-08	76732502	132491424	1360471	46	18667											
EFHA1	221154	broad.mit.edu	37	chr13	22067477	22067477	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagtattcttgtatacTctgatgttgtggtacctgtt	6	19	8	8	0	2	1	0	1	2	0	3	1	3	1	2	1	2	5	2	1	4	9			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:22067477T>G	uc001uof.3	-	11	1284	c.1216A>C	c.(1216-1218)Agt>Cgt	p.S406R	EFHA1_uc010tct.2_Missense_Mutation_p.S196R	NM_152726	NP_689939	Q8IYU8	EFHA1_HUMAN	Homo sapiens EF-hand domain family, member A1 (EFHA1), mRNA.	406							calcium ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|skin(2)	13		all_cancers(29;1.24e-15)|all_epithelial(30;5.4e-14)|all_lung(29;2.04e-13)|Lung SC(185;0.0367)		all cancers(112;0.000171)|Epithelial(112;0.000398)|OV - Ovarian serous cystadenocarcinoma(117;0.00641)|Lung(94;0.189)		TCTTGTATACTCTGATGTTGT	0.318													G	22067477	T	G	22067477	3	3	266	1	0	0	0	0	1	0	0	0	4982	1551	54	5	92	5	EFHA1	13	22067477	Missense_Mutation	SNP	T	TCGA-76-6191-01A-12D-1696-08		22067477	93102401	47	18668											
MCF2L	23263	broad.mit.edu	37	chr13	113729315	113729315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtggccgtccacaggtgGccgtggagagggcccgggcc	4	5	20	12	3	0	1	0	0	0	1	1	2	1	1	5	7	0	0	5	7	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr13:113729315G>T	uc001vsu.3	+	10	1291	c.1291G>T	c.(1291-1293)Gcc>Tcc	p.A431S	MCF2L_uc001vsq.3_Missense_Mutation_p.A431S|MCF2L_uc010tjr.2_Missense_Mutation_p.A374S|MCF2L_uc001vsr.3_Missense_Mutation_p.A378S|MCF2L_uc001vss.4_Missense_Mutation_p.A372S|MCF2L_uc010tjs.2_Missense_Mutation_p.A372S|MCF2L_uc001vst.1_Missense_Mutation_p.A336S	NM_024979	NP_079255	O15068	MCF2L_HUMAN	Homo sapiens MCF.2 cell line derived transforming sequence-like (MCF2L), transcript variant 2, mRNA.	404					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TCCACAGGTGGCCGTGGAGAG	0.647													T	113729315	G	T	113729315	3	4	266	1	0	0	0	0	1	0	0	0	9454	1203	42	4	1428	4	MCF2L	13	113729315	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	91661838	113729315	1440563	48	18669											
KCNK10	54207	broad.mit.edu	37	chr14	88651963	88651963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgttctccaactcagcGtgctgctggatacagtccgt	7	12	9	13	3	2	0	1	0	1	0	5	1	4	1	3	1	5	3	3	1	2	3	rs75132782	byFrequency	TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr14:88651963G>A	uc001xwm.3	-	6	1670	c.1548C>T	c.(1546-1548)caC>caT	p.H516H	KCNK10_uc001xwn.3_Silent_p.H516H|KCNK10_uc001xwo.3_Silent_p.H511H	NM_138318	NP_612191	P57789	KCNKA_HUMAN	Homo sapiens potassium channel, subfamily K, member 10 (KCNK10), transcript variant 3, mRNA.	511					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCAACTCAGCGTGCTGCTGGA	0.498													A	88651963	G	A	88651963	2	1	266	1	0	0	0	0	0	0	0	1	8117	1136	40	1		1	KCNK10	14	88651963	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08		88651963	18697577	49	18670											
FMN1	342184	broad.mit.edu	37	chr15	33359812	33359812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaattttctcatcatttcCgaggtcaggtgaaacccgag	10	12	9	10	2	3	1	3	1	1	0	5	3	4	1	2	2	2	1	2	2	2	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:33359812C>T	uc001zhf.4	-	0	274	c.274G>A	c.(274-276)Gga>Aga	p.G92R	FMN1_uc001zhg.2_Missense_Mutation_p.G92R	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCATCATTTCCGAGGTCAGGT	0.493													T	33359812	C	T	33359812	3	4	266	1	0	0	0	0	1	0	0	0	5998	661	23	1	3384	1	FMN1	15	33359812	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		33359812	69171580	50	18671											
TGM5	9333	broad.mit.edu	37	chr15	43544994	43544994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagacccagcattgcccGtagcgcacgggctggcagcc	9	4	13	15	3	0	1	0	0	0	1	0	1	0	1	3	2	4	6	3	2	2	2	rs138771869		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:43544994G>A	uc001zrd.2	-	5	833	c.825C>T	c.(823-825)taC>taT	p.Y275Y	TGM5_uc001zre.2_Silent_p.Y193Y	NM_201631	NP_963925	O43548	TGM5_HUMAN	Homo sapiens transglutaminase 5 (TGM5), transcript variant 1, mRNA.	275					epidermis development|peptide cross-linking	cytoplasm	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R274C(1)		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)	AGCATTGCCCGTAGCGCACGG	0.587													A	43544994	G	A	43544994	2	1	266	1	0	0	0	0	0	0	0	1	15933	1140	40	1		1	TGM5	15	43544994	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	10185182	43544994	58986398	51	18672											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499582	59499582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatcacagcaggtgcacGccaagaaaagggagaaacgc	16	4	12	9	2	1	2	1	0	0	2	1	4	1	2	1	2	3	2	1	2	5	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:59499582G>T	uc002agb.3	+	0	541	c.443G>T	c.(442-444)cGc>cTc	p.R148L	MYO1E_uc002aga.3_Intron	NM_033195	NP_149972	Q9BYZ2	LDH6B_HUMAN	Homo sapiens lactate dehydrogenase A-like 6B (LDHAL6B), mRNA.	148					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GCAGGTGCACGCCAAGAAAAG	0.438													T	59499582	G	T	59499582	3	4	266	1	0	0	0	0	1	0	0	0	8759	1087	38	4	445	4	LDHAL6B	15	59499582	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	15954588	59499582	43031810	52	18673											
ZNF710	374655	broad.mit.edu	37	chr15	90610585	90610585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctaccagctggcctgcaaCgggagggccttggaggagcc	7	6	16	12	1	1	0	0	0	1	0	1	3	1	3	4	5	5	2	4	5	2	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr15:90610585C>T	uc002bov.2	+	1	339	c.216C>T	c.(214-216)aaC>aaT	p.N72N		NM_198526	NP_940928	Q8N1W2	ZN710_HUMAN	Homo sapiens zinc finger protein 710 (ZNF710), mRNA.	72					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGGCCTGCAACGGGAGGGCCT	0.711													T	90610585	C	T	90610585	2	4	266	1	0	0	0	0	0	0	0	1	18216	535	19	1		1	ZNF710	15	90610585	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08	31111003	90610585	11920807	53	18674											
C16orf59	80178	broad.mit.edu	37	chr16	2511144	2511144	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcccgaacccccaggcCtggggcgggcctcagggacc	6	2	17	16	2	1	0	1	0	0	0	1	3	1	2	6	6	2	0	6	6	1	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:2511144C>G	uc002cqh.3	+	3	555	c.524C>G	c.(523-525)cCt>cGt	p.P175R	C16orf59_uc002cqg.2_Missense_Mutation_p.P8R|C16orf59_uc002cqi.3_Missense_Mutation_p.P8R|C16orf59_uc010uwb.2_Missense_Mutation_p.P8R	NM_025108	NP_079384	Q7L2K0	CP059_HUMAN	Homo sapiens chromosome 16 open reading frame 59 (C16orf59), mRNA.	175										lung(1)|skin(1)|urinary_tract(1)	3		Ovarian(90;0.17)				ACCCCCAGGCCTGGGGCGGGC	0.687													G	2511144	C	G	2511144	3	3	266	1	0	0	0	0	1	0	0	0	1837	681	24	4	538	4	C16orf59	16	2511144	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		2511144	87843609	54	18675											
GRIN2A	2903	broad.mit.edu	37	chr16	9858638	9858638	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttggatgaagtcagcAgctcttttgggtgagtccat	7	14	11	9	0	3	2	1	2	2	0	4	3	4	3	2	2	2	2	2	2	1	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr16:9858638A>T	uc010uym.2	-	13	3073	c.2763T>A	c.(2761-2763)gcT>gcA	p.A921A	GRIN2A_uc002czo.4_Silent_p.A921A|GRIN2A_uc010uyn.2_Silent_p.A764A|GRIN2A_uc002czr.4_Silent_p.A921A	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	921					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R920K(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TGAAGTCAGCAGCTCTTTTGG	0.468													T	9858638	A	T	9858638	2	4	266	1	0	0	0	0	0	0	0	1	6834	175	7	5		5	GRIN2A	16	9858638	Silent	SNP	A	TCGA-76-6191-01A-12D-1696-08	7347494	9858638	80496115	55	18676											
LRRC48	83450	broad.mit.edu	37	chr17	17910458	17910458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcctaacgacctgcgCgcggtaggcggggcgggctg	5	5	18	13	6	0	0	0	0	0	0	0	2	0	0	3	5	3	2	3	5	2	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:17910458C>T	uc021trj.1	+	12	1702	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	LRRC48_uc010vxe.2_Silent_p.R441R|LRRC48_uc021tri.1_Silent_p.R441R|LRRC48_uc021trk.1_Silent_p.R441R	NM_001130090	NP_112584	Q9H069	LRC48_HUMAN	Homo sapiens leucine rich repeat containing 48 (LRRC48), transcript variant 1, mRNA.	441						cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					ACGACCTGCGCGCGGTAGGCG	0.617													T	17910458	C	T	17910458	2	4	266	1	0	0	0	0	0	0	0	1	9075	755	27	1		1	LRRC48	17	17910458	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08		17910458	63284752	56	18677											
CD79B	974	broad.mit.edu	37	chr17	62007651	62007651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagccagctcacattgccGgaggcgctgttcatgtagca	9	8	12	12	2	2	1	2	0	0	1	2	2	2	2	2	2	4	5	2	2	1	3			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr17:62007651G>A	uc002jdp.1	-	2	299	c.216C>T	c.(214-216)tcC>tcT	p.S72S	CD79B_uc002jdq.1_Silent_p.S71S|CD79B_uc002jdr.1_Intron	NM_001039933	NP_001035022	P40259	CD79B_HUMAN	Homo sapiens CD79b molecule, immunoglobulin-associated beta (CD79B), transcript variant 3, mRNA.	71	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity	p.S71S(2)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCACATTGCCGGAGGCGCTGT	0.567			"Mis, O"		DLBCL								A	62007651	G	A	62007651	2	1	266	1	0	0	0	0	0	0	0	1	3067	1103	39	1		1	CD79B	17	62007651	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	44097193	62007651	19187559	57	18678											
CDH19	28513	broad.mit.edu	37	chr18	64211976	64211978	+	In_Frame_Del	DEL	CTT	CTT	-																															cttttttaatataactattcCttcttgagtttcatgattag																										TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr18:64211976_64211978delCTT	uc002lkc.1	-	5	1076_1078	c.938_940delAAG	c.(937-942)gaagga>gga	p.E313del	CDH19_uc010dql.1_Non-coding_Transcript|CDH19_uc010xey.1_In_Frame_Del_p.E313del|CDH19_uc002lkd.3_In_Frame_Del_p.E313del	NM_021153	NP_066976	Q9H159	CAD19_HUMAN	Homo sapiens cadherin 19, type 2 (CDH19), mRNA.	313	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.E313K(1)		NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAACTATTCCTTCTTGAGTTTC	0.3													-	64211978	CTT	-	64211976	7	5	266	1	0	1	0	1	0	0	0	0	3134	690	24	0	1406	0	CDH19	18	64211976	In_Frame_Del	DEL	CTT	TCGA-76-6191-01A-12D-1696-08		64211976	13865272	58	18679											
THEG	51298	broad.mit.edu	37	chr19	362356	362356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggggctggccaccaccttCttggtgacatccagcacctc	6	8	11	16	1	1	1	0	1	1	0	3	1	2	1	5	4	1	2	5	4	0	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:362356C>T	uc002lol.3	-	7	1027	c.984G>A	c.(982-984)aaG>aaA	p.K328K	THEG_uc002lom.3_Silent_p.K304K	NM_016585	NP_057669	Q9P2T0	THEG_HUMAN	Homo sapiens Theg homolog (mouse) (THEG), transcript variant 1, mRNA.	328					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CCACCACCTTCTTGGTGACAT	0.617													T	362356	C	T	362356	2	4	266	1	0	0	0	0	0	0	0	1	15957	912	32	2		2	THEG	19	362356	Silent	SNP	C	TCGA-76-6191-01A-12D-1696-08		362356	58766627	59	18680											
COL5A3	50509	broad.mit.edu	37	chr19	10104318	10104318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcccttctcaccaggcaGcccagggaggccatcgaagc	8	6	12	15	1	1	0	1	0	1	0	3	2	1	1	4	4	2	1	4	4	1	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:10104318G>T	uc002mmq.1	-	17	1758	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M		NM_015719	NP_056534	P25940	CO5A3_HUMAN	Homo sapiens collagen, type V, alpha 3 (COL5A3), mRNA.	558	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TCACCAGGCAGCCCAGGGAGG	0.587													T	10104318	G	T	10104318	3	4	266	1	0	0	0	0	1	0	0	0	3729	962	34	4	3765	4	COL5A3	19	10104318	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	9741962	10104318	49024665	60	18681											
RYR1	6261	broad.mit.edu	37	chr19	39001381	39001381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctaaagtgctgggcagcGgtggccacgcctctaacaag	9	6	14	12	3	1	0	0	0	1	0	1	0	1	0	2	4	3	3	2	4	4	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:39001381G>A	uc002oit.3	+	59	9212	c.9082G>A	c.(9082-9084)Ggt>Agt	p.G3028S	RYR1_uc002oiu.3_Missense_Mutation_p.G3028S|RYR1_uc002oiv.1_5'UTR|RYR1_uc010xuf.1_5'Flank	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	3028					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCTGGGCAGCGGTGGCCACGC	0.572													A	39001381	G	A	39001381	3	1	266	1	0	0	0	0	1	0	0	0	13859	1116	39	1	9320	1	RYR1	19	39001381	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08	28897063	39001381	20127602	61	18682											
PRX	57716	broad.mit.edu	37	chr19	40902416	40902416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttctgggaggtgcacatCgggcacggccatctcgggca	7	7	14	13	3	2	0	0	0	2	0	4	1	2	1	1	5	1	3	1	5	0	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr19:40902416C>T	uc002onr.3	-	6	2112	c.1843G>A	c.(1843-1845)Gat>Aat	p.D615N	PRX_uc002onq.3_Missense_Mutation_p.D476N|PRX_uc002ons.3_3'UTR	NM_181882	NP_870998	Q9BXM0	PRAX_HUMAN	Homo sapiens periaxin (PRX), transcript variant 2, mRNA.	615	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGGTGCACATCGGGCACGGCC	0.552													T	40902416	C	T	40902416	3	4	266	1	0	0	0	0	1	0	0	0	12727	884	31	1	2546	1	PRX	19	40902416	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	1901035	40902416	18226567	62	18683											
MATN4	8785	broad.mit.edu	37	chr20	43926658	43926658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctccgaggcgatctcGcgcagctccgcctccaccgc	4	6	12	19	6	1	0	0	0	1	0	5	2	4	0	5	2	1	4	5	2	0	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:43926658G>A	uc002xnn.2	-	7	1666	c.1479C>T	c.(1477-1479)cgC>cgT	p.R493R	MATN4_uc002xnp.2_Silent_p.R411R|MATN4_uc002xno.2_Silent_p.R452R|MATN4_uc010zwr.1_Silent_p.R441R|MATN4_uc002xnr.1_Silent_p.R493R	NM_003833	NP_003824	O95460	MATN4_HUMAN	Homo sapiens matrilin 4 (MATN4), transcript variant 1, mRNA.	534	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGCGATCTCGCGCAGCTCCG	0.672													A	43926658	G	A	43926658	2	1	266	1	0	0	0	0	0	0	0	1	9411	1074	38	1		1	MATN4	20	43926658	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08		43926658	19098862	63	18684											
NCOA5	57727	broad.mit.edu	37	chr20	44693706	44693706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgttgactgtgcaggagCggtgaatctggtgttgctgg	6	13	17	5	1	1	3	0	3	1	0	1	4	1	4	0	4	3	4	0	4	1	2	rs150367556		TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr20:44693706C>T	uc002xrd.3	-	4	1319	c.791G>A	c.(790-792)cGc>cAc	p.R264H	NCOA5_uc002xrc.3_Missense_Mutation_p.R152H|NCOA5_uc002xre.3_Missense_Mutation_p.R264H	NM_020967	NP_066018	Q9HCD5	NCOA5_HUMAN	Homo sapiens nuclear receptor coactivator 5 (NCOA5), mRNA.	264					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding	p.H263L(1)		central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGTGCAGGAGCGGTGAATCTG	0.473													T	44693706	C	T	44693706	3	4	266	1	0	0	0	0	1	0	0	0	10308	768	27	1	960	1	NCOA5	20	44693706	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08	767048	44693706	18331814	64	18685											
COL6A1	1291	broad.mit.edu	37	chr21	47410308	47410308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggagagaagggcaagcGtggcatcgacggggtggacg	11	3	20	7	4	0	1	0	0	0	1	1	5	0	3	0	6	1	2	0	6	2	0			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr21:47410308G>A	uc002zhu.1	+	12	1076	c.974G>A	c.(973-975)cGt>cAt	p.R325H		NM_001848	NP_001839	P12109	CO6A1_HUMAN	Homo sapiens collagen, type VI, alpha 1 (COL6A1), mRNA.	325	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AAGGGCAAGCGTGGCATCGAC	0.657													A	47410308	G	A	47410308	3	1	266	1	0	0	0	0	1	0	0	0	3730	1145	40	1	1024	1	COL6A1	21	47410308	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		47410308	719587	65	18686											
TCF20	6942	broad.mit.edu	37	chr22	42609517	42609517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaacagtcttctcattaaCctttgggttcccgtcggatg	7	13	8	13	2	2	0	1	0	2	0	5	1	3	1	3	2	2	1	3	2	2	4			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chr22:42609517C>A	uc003bcj.1	-	0	1929	c.1795G>T	c.(1795-1797)Gtt>Ttt	p.V599F	TCF20_uc003bck.1_Missense_Mutation_p.V599F	NM_005650	NP_005641	Q9UGU0	TCF20_HUMAN	Homo sapiens transcription factor 20 (AR1) (TCF20), transcript variant 1, mRNA.	599					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TTCTCATTAACCTTTGGGTTC	0.542													A	42609517	C	A	42609517	3	1	266	1	0	0	0	0	1	0	0	0	15790	507	18	4	4125	4	TCF20	22	42609517	Missense_Mutation	SNP	C	TCGA-76-6191-01A-12D-1696-08		42609517	8695049	66	18687											
OCRL	4952	broad.mit.edu	37	chrX	128696660	128696660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatctggctgcacacgtgGaggactttgagagaaggaat	11	8	13	9	1	1	2	0	1	1	1	1	6	1	5	1	4	1	2	1	4	2	1			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:128696660G>A	uc004euq.3	+	11	1306	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K	OCRL_uc004eur.3_Missense_Mutation_p.E381K	NM_000276	NP_000267	Q01968	OCRL_HUMAN	Homo sapiens oculocerebrorenal syndrome of Lowe (OCRL), transcript variant a, mRNA.	381					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGCACACGTGGAGGACTTTGA	0.438													A	128696660	G	A	128696660	3	1	266	1	0	0	0	0	1	0	0	0	10899	1175	41	2	1187	2	OCRL	23	128696660	Missense_Mutation	SNP	G	TCGA-76-6191-01A-12D-1696-08		128696660	26573900	67	18688											
MAMLD1	10046	broad.mit.edu	37	chrX	149639327	149639327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatcttctaagccagcaacaGcagcagcagcagcagcagca	15	4	9	13	0	2	0	0	0	2	0	2	0	2	0	1	0	10	8	1	0	3	2			TCGA-76-6191-01A-12D-1696-08	TCGA-76-6191-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4dbf66ef-4108-4a86-a8eb-6ba8cdefb4a2	29d36bce-4d93-4eca-9aef-1bbf21d82494	g.chrX:149639327G>A	uc011mxu.2	+	2	1717	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q	MAMLD1_uc011mxt.1_Silent_p.Q456Q|MAMLD1_uc004fee.2_Silent_p.Q494Q|MAMLD1_uc011mxv.2_Silent_p.Q469Q|MAMLD1_uc011mxw.2_Silent_p.Q421Q	NM_001177465	NP_001170936	Q13495	MAMD1_HUMAN	Homo sapiens mastermind-like domain containing 1 (MAMLD1), transcript variant 1, mRNA.	494					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.Q469Q(1)|p.Q494Q(1)|p.Q421Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCcagcaacagcagcagcagc	0.532													A	149639327	G	A	149639327	2	1	266	1	0	0	0	0	0	0	0	1	9283	962	34	2		2	MAMLD1	23	149639327	Silent	SNP	G	TCGA-76-6191-01A-12D-1696-08	20942667	149639327	5631233	68	18689											
KLF17	128209	broad.mit.edu	37	chr1	44584644	44584644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccggtggcaggcggCgcaccaggctgcccaggtga	6	4	18	13	3	0	2	0	2	0	0	0	2	0	2	3	6	2	4	3	6	0	0			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:44584644C>T	uc001clp.3	+	0	123	c.65C>T	c.(64-66)gCg>gTg	p.A22V	KLF17_uc009vxf.1_Intron	NM_173484	NP_775755	Q5JT82	KLF17_HUMAN	Homo sapiens Kruppel-like factor 17 (KLF17), mRNA.	22					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.A22A(1)		NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGGCAGGCGGCGCACCAGGCT	0.697													T	44584644	C	T	44584644	3	4	267	1	0	0	0	0	1	0	0	0	8403	768	27	1	67	1	KLF17	1	44584644	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		44584644	204665977	1	18690											
CYP4A11	1579	broad.mit.edu	37	chr1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagggagcctcctgagacGcaggtggattccatttttgg	7	12	14	8	1	0	1	0	1	0	1	2	4	2	3	3	4	1	2	3	4	1	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:47395834G>A	uc001cqp.4	-	11	1564	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C		NM_000778	NP_000769	Q02928	CP4AB_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily A, polypeptide 11 (CYP4A11), mRNA.	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CTCCTGAGACGCAGGTGGATT	0.587													A	47395834	G	A	47395834	3	1	267	1	0	0	0	0	1	0	0	0	4216	1087	38	1	50	1	CYP4A11	1	47395834	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	2811190	47395834	201854787	2	18691											
ELTD1	64123	broad.mit.edu	37	chr1	79404873	79404873	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttaactgttctacttacTtttgttaaagttttattaat	10	23	4	4	0	1	0	0	0	1	0	1	0	1	0	0	0	3	4	0	0	7	11			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:79404873T>A	uc001diq.4	-	4	552	c.396_splice	c.e4+1	p.K132_splice		NM_022159	NP_071442	Q9HBW9	ELTD1_HUMAN	Homo sapiens EGF, latrophilin and seven transmembrane domain containing 1 (ELTD1), mRNA.	132					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTCTACTTACTTTTGTTAAAG	0.254													A	79404873	T	A	79404873	3	1	267	1	0	0	0	0	1	0	0	0	5125	1623	56	5	1724	5	ELTD1	1	79404873	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08	32009039	79404873	169845748	3	18692											
BRDT	676	broad.mit.edu	37	chr1	92442915	92442915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactccataactactatgacGttgtcaaaaatccgatggat	14	11	7	9	2	1	1	1	1	0	0	3	4	3	2	2	1	2	1	2	1	5	4	rs142308966		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:92442915G>A	uc001dol.4	+	6	1352	c.934G>A	c.(934-936)Gtt>Att	p.V312I	BRDT_uc010osz.2_Missense_Mutation_p.V316I|BRDT_uc001dok.4_Missense_Mutation_p.V312I|BRDT_uc009wdf.3_Missense_Mutation_p.V239I|BRDT_uc010otb.2_Missense_Mutation_p.V266I|BRDT_uc010ota.2_Missense_Mutation_p.V266I|BRDT_uc001dom.4_Missense_Mutation_p.V312I	NM_001242805	NP_001229734	Q58F21	BRDT_HUMAN	Homo sapiens bromodomain, testis-specific (BRDT), transcript variant 3, mRNA.	312	Bromo 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	p.V312I(2)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		CTACTATGACGTTGTCAAAAA	0.323													A	92442915	G	A	92442915	3	1	267	1	0	0	0	0	1	0	0	0	1517	1145	40	1	952	1	BRDT	1	92442915	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	13038042	92442915	156807706	4	18693											
MNDA	4332	broad.mit.edu	37	chr1	158815528	158815528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgtttcatgctacagtggCcagtaagactcaatatttcc	12	13	7	9	0	2	1	2	0	0	1	3	1	3	1	2	1	2	3	2	1	5	5			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:158815528C>A	uc001fsz.1	+	4	922	c.722C>A	c.(721-723)gCc>gAc	p.A241D		NM_002432	NP_002423	P41218	MNDA_HUMAN	Homo sapiens myeloid cell nuclear differentiation antigen (MNDA), mRNA.	241	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					GCTACAGTGGCCAGTAAGACT	0.403													A	158815528	C	A	158815528	3	1	267	1	0	0	0	0	1	0	0	0	9752	739	26	4	736	4	MNDA	1	158815528	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	66372613	158815528	90435093	5	18694											
TOMM40L	84134	broad.mit.edu	37	chr1	161197734	161197734	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatcggggagatgactacAcagccactctgaccctagga	12	7	11	11	1	1	3	0	2	1	1	2	5	1	4	2	3	2	1	2	3	3	3	rs146096318	by1000genomes	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:161197734A>C	uc001fzd.3	+	5	668	c.439A>C	c.(439-441)Aca>Cca	p.T147P	TOMM40L_uc010pkk.1_Non-coding_Transcript|TOMM40L_uc010pkl.1_Missense_Mutation_p.T113P|TOMM40L_uc009wue.3_Missense_Mutation_p.T29P|TOMM40L_uc009wuf.2_Non-coding_Transcript|TOMM40L_uc001fze.3_Missense_Mutation_p.T147P	NM_032174	NP_115550	Q969M1	TM40L_HUMAN	Homo sapiens translocase of outer mitochondrial membrane 40 homolog (yeast)-like (TOMM40L), nuclear gene encoding mitochondrial protein, mRNA.	147					protein transport	mitochondrial outer membrane|pore complex	porin activity|voltage-gated anion channel activity			large_intestine(2)|liver(4)|lung(4)	10	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AGATGACTACACAGCCACTCT	0.522											OREG0013943	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	161197734	A	C	161197734	3	2	267	1	0	0	0	0	1	0	0	0	16459	159	6	5	457	5	TOMM40L	1	161197734	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	2382206	161197734	88052887	6	18695											
ASPM	259266	broad.mit.edu	37	chr1	197060162	197060162	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttcttgtaatcttgctcGaaaccatctctgtttaaaac	10	17	4	10	1	3	0	0	0	3	0	5	1	3	0	1	0	3	3	1	0	4	7			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197060162G>A	uc001gtu.3	-	22	9711	c.9454C>T	c.(9454-9456)Cga>Tga	p.R3152*	ASPM_uc001gtv.3_Nonsense_Mutation_p.R1567*|ASPM_uc001gtw.4_Nonsense_Mutation_p.R1000*	NM_018136	NP_060606	Q8IZT6	ASPM_HUMAN	Homo sapiens asp (abnormal spindle) homolog, microcephaly associated (Drosophila) (ASPM), transcript variant 1, mRNA.	3152					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATCTTGCTCGAAACCATCTC	0.289													A	197060162	G	A	197060162	4	1	267	1	0	0	0	0	0	1	0	0	1061	1066	37	1	1003	1	ASPM	1	197060162	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	35862428	197060162	52190459	7	18696											
LHX9	56956	broad.mit.edu	37	chr1	197890610	197890610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctggtgtactgccgcgCccacttcgagaccctcttgc	5	9	10	17	3	1	1	0	0	1	1	2	2	1	1	4	1	4	1	4	1	1	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr1:197890610C>T	uc001guk.1	+	2	991	c.554C>T	c.(553-555)gCc>gTc	p.A185V	LHX9_uc001gui.1_Missense_Mutation_p.A176V	NM_020204	NP_064589	Q9NQ69	LHX9_HUMAN	Homo sapiens LIM homeobox 9 (LHX9), transcript variant 1, mRNA.	185	LIM zinc-binding 2.				motor axon guidance|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|skin(1)|stomach(1)	35						TACTGCCGCGCCCACTTCGAG	0.607													T	197890610	C	T	197890610	3	4	267	1	0	0	0	0	1	0	0	0	8837	739	26	2	596	2	LHX9	1	197890610	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	830448	197890610	51360011	8	18697											
PQLC3	130814	broad.mit.edu	37	chr2	11300636	11300636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttactatgggtatccgcCgctgacctacctggagtacc	7	11	11	12	2	0	1	0	1	0	0	1	2	1	2	5	2	3	4	5	2	5	5			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:11300636C>T	uc002rbc.3	+	1	321	c.188C>T	c.(187-189)cCg>cTg	p.P63L	PQLC3_uc010yjk.2_Missense_Mutation_p.P63L	NM_152391	NP_689604	Q8N755	PQLC3_HUMAN	Homo sapiens PQ loop repeat containing 3 (PQLC3), mRNA.	63						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGGTATCCGCCGCTGACCTAC	0.617													T	11300636	C	T	11300636	3	4	267	1	0	0	0	0	1	0	0	0	12502	652	23	1	194	1	PQLC3	2	11300636	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		11300636	231898737	9	18698											
THSD7B	80731	broad.mit.edu	37	chr2	137814211	137814211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgcttgttccttacgctCgcggtgaagtcaagcctcgg	5	12	13	11	4	1	1	1	1	0	0	4	1	2	1	2	2	3	3	2	2	3	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:137814211C>T	uc002tva.1	+	1	268	c.268C>T	c.(268-270)Cgc>Tgc	p.R90C	THSD7B_uc010zbj.1_Non-coding_Transcript|THSD7B_uc002tvb.3_5'UTR	NM_001080427	NP_001073896			Homo sapiens thrombospondin, type I, domain containing 7B (THSD7B), mRNA.											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TCCTTACGCTCGCGGTGAAGT	0.542													T	137814211	C	T	137814211	3	4	267	1	0	0	0	0	1	0	0	0	15980	884	31	1	274	1	THSD7B	2	137814211	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	126513575	137814211	105385162	10	18699											
SCN7A	6332	broad.mit.edu	37	chr2	167262867	167262867	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacttgaaaaagacagagCatactgttgccaaaggtttc	15	9	9	8	0	0	3	0	1	0	2	1	3	0	3	1	1	4	4	1	1	5	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:167262867C>A	uc002udu.2	-	24	4402	c.4272G>T	c.(4270-4272)atG>atT	p.M1424I	SCN7A_uc010fpm.2_Non-coding_Transcript	NM_002976	NP_002967	Q01118	SCN7A_HUMAN	Homo sapiens sodium channel, voltage-gated, type VII, alpha (SCN7A), transcript variant 1, mRNA.	1424					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AAAGACAGAGCATACTGTTGC	0.348													A	167262867	C	A	167262867	3	1	267	1	0	0	0	0	1	0	0	0	14016	710	25	4	780	4	SCN7A	2	167262867	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	29448656	167262867	75936506	11	18700											
PLEKHA3	65977	broad.mit.edu	37	chr2	179365815	179365815	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactctataaaagaaccagtAtctacacttcaccgactctc	14	10	3	14	1	4	1	1	0	3	1	5	2	4	1	2	0	2	1	2	0	6	5			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:179365815A>T	uc002umn.3	+	6	1085	c.687A>T	c.(685-687)gtA>gtT	p.V229V	MIR548N_uc021vsx.1_Intron	NM_019091	NP_061964	Q9HB20	PKHA3_HUMAN	Homo sapiens pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 3 (PLEKHA3), mRNA.	229						cytoplasm|membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.0266)|all cancers(119;0.0865)			AAGAACCAGTATCTACACTTC	0.378													T	179365815	A	T	179365815	2	4	267	1	0	0	0	0	0	0	0	1	12134	436	16	5		5	PLEKHA3	2	179365815	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	12102948	179365815	63833558	12	18701											
SPATS2L	26010	broad.mit.edu	37	chr2	201303921	201303921	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaacaacagagaggtcAgatggcctacagtggtcagc	13	6	13	9	0	2	2	2	0	0	2	2	4	2	3	1	4	4	0	1	4	3	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:201303921A>C	uc010zhc.2	+	6	735	c.612A>C	c.(610-612)tcA>tcC	p.S204S	SPATS2L_uc002uvn.4_Silent_p.S174S|SPATS2L_uc010fst.3_Silent_p.S174S|SPATS2L_uc002uvo.4_Silent_p.S114S|SPATS2L_uc002uvp.4_Silent_p.S174S|SPATS2L_uc002uvq.4_Intron|SPATS2L_uc002uvr.4_Silent_p.S174S	NM_015535	NP_056350	Q9NUQ6	SPS2L_HUMAN	Homo sapiens spermatogenesis associated, serine-rich 2-like (SPATS2L), transcript variant 1, mRNA.	174						cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						CAGAGAGGTCAGATGGCCTAC	0.448													C	201303921	A	C	201303921	2	2	267	1	0	0	0	0	0	0	0	1	15116	175	7	5		5	SPATS2L	2	201303921	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	21938106	201303921	41895452	13	18702											
UGT1A1	54578	broad.mit.edu	37	chr2	234602327	234602327	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatctattttattgtctgtTttcaaagtatgaagaactcg	11	18	6	6	1	3	2	1	1	2	1	4	2	3	2	0	0	1	2	0	0	7	8			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:234602327T>G	uc002vuv.4	+	0	816	c.677T>G	c.(676-678)tTt>tGt	p.F226C	UGT1A1_uc010zmv.1_Intron|UGT1A1_uc002vup.3_Intron|UGT1A1_uc002vuq.3_Intron|UGT1A1_uc002vur.3_Intron|UGT1A1_uc010zmw.1_Intron|UGT1A1_uc002vus.3_Intron|UGT1A1_uc010zmx.1_Intron|UGT1A1_uc002vut.3_Intron|UGT1A1_uc002vuu.3_Intron|UGT1A1_uc010zmy.1_Missense_Mutation_p.F226C	NM_001072	NP_001063	P22309	UD11_HUMAN	Homo sapiens UDP glucuronosyltransferase 1 family, polypeptide A6 (UGT1A6), transcript variant 1, mRNA.	227					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TATTGTCTGTTTTCAAAGTAT	0.398													G	234602327	T	G	234602327	3	3	267	1	0	0	0	0	1	0	0	0	17046	1841	64	5		5	UGT1A1	2	234602327	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08	33298406	234602327	8597046	14	18703											
PER2	8864	broad.mit.edu	37	chr2	239157720	239157720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgccacgtcgatggctgCgggcaggccgcccgtctgca	5	7	14	15	5	1	0	0	0	1	0	2	1	1	0	3	3	4	3	3	3	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr2:239157720C>T	uc002vyc.3	-	21	3838	c.3601G>A	c.(3601-3603)Gca>Aca	p.A1201T	PER2_uc010znv.1_Missense_Mutation_p.A1201T	NM_022817	NP_073728	O15055	PER2_HUMAN	Homo sapiens period homolog 2 (Drosophila) (PER2), mRNA.	1201	CRY binding domain (By similarity).				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCGATGGCTGCGGGCAGGCCG	0.562													T	239157720	C	T	239157720	3	4	267	1	0	0	0	0	1	0	0	0	11806	768	27	1	174	1	PER2	2	239157720	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4555393	239157720	4041653	15	18704											
CLSTN2	64084	broad.mit.edu	37	chr3	140275468	140275468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcagttcccaacggcGggtgtgcggcgcctcaaagt	7	7	14	13	4	1	0	1	0	0	0	3	0	3	0	3	4	2	2	3	4	2	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:140275468G>A	uc003etn.3	+	10	1978	c.1788G>A	c.(1786-1788)gcG>gcA	p.A596A	CLSTN2_uc003etm.2_Silent_p.A596A	NM_022131	NP_071414	Q9H4D0	CSTN2_HUMAN	Homo sapiens calsyntenin 2 (CLSTN2), mRNA.	596					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.T595M(1)|p.A596V(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCCCAACGGCGGGTGTGCGGC	0.577										HNSCC(16;0.037)			A	140275468	G	A	140275468	2	1	267	1	0	0	0	0	0	0	0	1	3593	1103	39	1		1	CLSTN2	3	140275468	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08		140275468	57746962	16	18705											
ZBTB38	253461	broad.mit.edu	37	chr3	141163945	141163945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgaagtgttcgatgaCgcaagtgaccaggattccac	12	9	12	8	2	0	4	0	4	0	0	2	6	1	5	2	1	0	2	2	1	2	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141163945C>T	uc010hup.3	+	1	2765	c.2718C>T	c.(2716-2718)gaC>gaT	p.D906D	ZBTB38_uc003etw.3_Silent_p.D905D|ZBTB38_uc010hun.3_Silent_p.D902D|ZBTB38_uc010huo.3_Silent_p.D905D|ZBTB38_uc003ety.3_Silent_p.D905D|ZBTB38_uc021xes.1_Silent_p.D905D	NM_001080412	NP_001073881	Q8NAP3	ZBT38_HUMAN	Homo sapiens zinc finger and BTB domain containing 38 (ZBTB38), mRNA.	905					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TGTTCGATGACGCAAGTGACC	0.498													T	141163945	C	T	141163945	2	4	267	1	0	0	0	0	0	0	0	1	17640	535	19	1		1	ZBTB38	3	141163945	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	888477	141163945	56858485	17	18706											
GRK7	131890	broad.mit.edu	37	chr3	141499458	141499458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatctacaacgtgggcacGcgtggcctggacatgagccg	9	6	13	13	4	1	1	0	1	1	0	1	2	1	2	2	3	3	1	2	3	2	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:141499458G>A	uc011bnd.2	+	1	939	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_139209	NP_631948	Q8WTQ7	GRK7_HUMAN	Homo sapiens G protein-coupled receptor kinase 7 (GRK7), mRNA.	285	Protein kinase.				visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						ACGTGGGCACGCGTGGCCTGG	0.557													A	141499458	G	A	141499458	2	1	267	1	0	0	0	0	0	0	0	1	6849	1074	38	1		1	GRK7	3	141499458	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	335513	141499458	56522972	18	18707											
TPRG1	285386	broad.mit.edu	37	chr3	189038544	189038544	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagacctacacagggctgAtgtcattcattggaaaccgc	11	10	10	10	1	2	2	2	2	0	1	2	4	2	3	2	2	2	1	2	2	2	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr3:189038544A>T	uc003frv.2	+	10	1990	c.763A>T	c.(763-765)Atg>Ttg	p.M255L	TPRG1_uc003frw.2_Missense_Mutation_p.M255L	NM_198485	NP_940887	Q6ZUI0	TPRG1_HUMAN	Homo sapiens tumor protein p63 regulated 1 (TPRG1), mRNA.	255										endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		CACAGGGCTGATGTCATTCAT	0.433													T	189038544	A	T	189038544	3	4	267	1	0	0	0	0	1	0	0	0	16519	333	12	5	781	5	TPRG1	3	189038544	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	47539086	189038544	8983886	19	18708											
GAK	2580	broad.mit.edu	37	chr4	860238	860238	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacggtcacagagtccgaaTtgagaaattcgccgaagaga	14	6	13	8	4	1	3	1	1	0	3	3	8	2	4	2	2	0	0	2	2	3	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:860238T>C	uc003gbm.4	-	21	3156	c.2957A>G	c.(2956-2958)aAt>aGt	p.N986S	GAK_uc003gbn.4_Missense_Mutation_p.N907S|GAK_uc010ibj.3_Non-coding_Transcript|GAK_uc003gbl.4_Missense_Mutation_p.N839S	NM_005255	NP_005246	O14976	GAK_HUMAN	Homo sapiens cyclin G associated kinase (GAK), mRNA.	986					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		AGAGTCCGAATTGAGAAATTC	0.622													C	860238	T	C	860238	3	2	267	1	0	0	0	0	1	0	0	0	6249	1493	52	3	1006	3	GAK	4	860238	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08		860238	190294038	20	18709											
RASSF6	166824	broad.mit.edu	37	chr4	74477540	74477540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctttttgagatggtctgaGgatatcctaaacatgagaat	12	14	9	6	0	1	3	0	3	1	2	3	6	3	4	2	2	1	0	2	2	4	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:74477540G>T	uc003hhd.1	-	1	192	c.69C>A	c.(67-69)tcC>tcA	p.S23S	RASSF6_uc003hhc.1_5'UTR|RASSF6_uc010iik.1_5'UTR|RASSF6_uc010iil.1_Intron	NM_201431	NP_803876	Q6ZTQ3	RASF6_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family member 6 (RASSF6), transcript variant 2, mRNA.	23					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GATGGTCTGAGGATATCCTAA	0.343													T	74477540	G	T	74477540	2	4	267	1	0	0	0	0	0	0	0	1	13178	987	35	4		4	RASSF6	4	74477540	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	73617302	74477540	116676736	21	18710											
FRAS1	80144	broad.mit.edu	37	chr4	79343100	79343100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggcaaagtcatgtacCgccctcccccggcagcaccc	9	4	9	19	2	1	0	1	0	0	0	2	0	2	0	6	2	2	4	6	2	2	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:79343100C>T	uc003hlb.2	+	33	5064	c.4624C>T	c.(4624-4626)Cgc>Tgc	p.R1542C	FRAS1_uc003hkw.3_Missense_Mutation_p.R1542C|FRAS1_uc010ijj.2_Intron	NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	1541					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGTCATGTACCGCCCTCCCCC	0.567													T	79343100	C	T	79343100	3	4	267	1	0	0	0	0	1	0	0	0	6093	652	23	1	4758	1	FRAS1	4	79343100	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4865560	79343100	111811176	22	18711											
AGXT2L1	64850	broad.mit.edu	37	chr4	109667592	109667592	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggtccaccatgaacttTgcatcttcttcagtgaagca	10	13	8	10	0	3	2	1	2	2	0	4	2	4	2	2	1	3	3	2	1	2	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr4:109667592T>C	uc003hzc.3	-	10	1447	c.1266A>G	c.(1264-1266)gcA>gcG	p.A422A	AGXT2L1_uc010imc.3_Silent_p.A416A|AGXT2L1_uc011cfm.2_Silent_p.A382A|AGXT2L1_uc011cfn.2_Silent_p.A349A|AGXT2L1_uc011cfo.2_Silent_p.A364A	NM_031279	NP_112569	Q8TBG4	AT2L1_HUMAN	Homo sapiens alanine-glyoxylate aminotransferase 2-like 1 (AGXT2L1), transcript variant 1, mRNA.	422					cellular amino acid metabolic process	mitochondrion	alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000281)		CCATGAACTTTGCATCTTCTT	0.423													C	109667592	T	C	109667592	2	2	267	1	0	0	0	0	0	0	0	1	406	1799	63	3		3	AGXT2L1	4	109667592	Silent	SNP	T	TCGA-76-6192-01A-11D-1696-08	30324492	109667592	81486684	23	18712											
TRIO	7204	broad.mit.edu	37	chr5	14389446	14389446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagattccacctggcAttgtaaacaaagaactcatc	15	9	8	9	0	1	2	1	0	0	2	3	4	2	3	2	2	2	2	2	2	5	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:14389446A>G	uc003jff.3	+	24	4003	c.3997A>G	c.(3997-3999)Att>Gtt	p.I1333V	TRIO_uc003jfg.3_Non-coding_Transcript|TRIO_uc011cna.1_Missense_Mutation_p.I1284V|TRIO_uc003jfh.1_Missense_Mutation_p.I982V	NM_007118	NP_009049	O75962	TRIO_HUMAN	Homo sapiens triple functional domain (PTPRF interacting) (TRIO), mRNA.	1333	DH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TCCACCTGGCATTGTAAACAA	0.408													G	14389446	A	G	14389446	3	3	267	1	0	0	0	0	1	0	0	0	16653	217	8	3	4095	3	TRIO	5	14389446	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08		14389446	166525814	24	18713											
AP3B1	8546	broad.mit.edu	37	chr5	77477403	77477403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatctggatccatagtataCggcttcttctttttgtcagt	7	18	8	8	1	4	1	1	1	3	0	5	2	5	2	1	2	1	2	1	2	3	7			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:77477403C>T	uc003kfj.3	-	7	995	c.870G>A	c.(868-870)ccG>ccA	p.P290P		NM_003664	NP_003655	O00203	AP3B1_HUMAN	Homo sapiens adaptor-related protein complex 3, beta 1 subunit (AP3B1), mRNA.	290					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		CCATAGTATACGGCTTCTTCT	0.343									Hermansky-Pudlak syndrome				T	77477403	C	T	77477403	2	4	267	1	0	0	0	0	0	0	0	1	746	523	19	1		1	AP3B1	5	77477403	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	63087957	77477403	103437857	25	18714											
RGMB	285704	broad.mit.edu	37	chr5	98128833	98128833	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagtgtacagatcagaaAgtctaccaagctgtgacaga	15	8	10	8	0	2	5	1	2	1	3	2	5	2	5	1	0	3	2	1	0	4	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:98128833A>G	uc003knc.3	+	4	1215	c.813A>G	c.(811-813)aaA>aaG	p.K271K		NM_001012761	NP_001012779	Q6NW40	RGMB_HUMAN	Homo sapiens RGM domain family, member B (RGMB), mRNA.	230					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		CAGATCAGAAAGTCTACCAAG	0.527													G	98128833	A	G	98128833	2	3	267	1	0	0	0	0	0	0	0	1	13369	69	3	3		3	RGMB	5	98128833	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	20651430	98128833	82786427	26	18715											
PCDHAC2	56136	broad.mit.edu	37	chr5	140263481	140263481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgcgactctggcgtgcCgcctctgggcagcaacgtga	5	6	15	15	7	2	1	0	1	2	0	2	2	2	1	2	2	3	2	2	2	1	0			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140263481C>T	uc003lif.2	+	0	1628	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc003lia.2_Intron|PCDHAC2_uc003lic.2_Intron|PCDHAC2_uc003lie.1_Missense_Mutation_p.P543L|PCDHAC2_uc003lid.3_Missense_Mutation_p.P543L	NM_018904	NP_061727	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 13 (PCDHA13), transcript variant 1, mRNA.	557	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGGCGTGCCGCCTCTGGGC	0.692													T	140263481	C	T	140263481	3	4	267	1	0	0	0	0	1	0	0	0	11609	652	23	1		1	PCDHAC2	5	140263481	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	42134648	140263481	40651779	27	18716											
PCDHGC5	56112	broad.mit.edu	37	chr5	140725753	140725753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcgctcaggctgcggcGctggcacaagtcacgcctgc	5	6	15	15	4	2	0	2	0	0	0	2	0	2	0	1	4	2	5	1	4	1	0			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:140725753G>A	uc003ljm.2	+	0	2153	c.2153G>A	c.(2152-2154)cGc>cAc	p.R718H	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljk.2_Intron|PCDHGC5_uc011dap.2_Missense_Mutation_p.R718H	NM_018916	NP_061739	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 3 (PCDHGA3), transcript variant 1, mRNA.	719					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTGCGGCGCTGGCACAAG	0.677													A	140725753	G	A	140725753	3	1	267	1	0	0	0	0	1	0	0	0	11647	1087	38	1		1	PCDHGC5	5	140725753	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	462272	140725753	40189507	28	18717											
CCDC99	54908	broad.mit.edu	37	chr5	169028402	169028402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagtttatcgattaccGcctcagaaagaggagacaca	15	7	11	8	2	1	4	1	0	0	4	2	7	1	4	2	2	1	1	2	2	4	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr5:169028402G>A	uc003mae.4	+	10	1722	c.1443G>A	c.(1441-1443)ccG>ccA	p.P481P	CCDC99_uc010jjj.3_Silent_p.P410P|CCDC99_uc011deq.2_Silent_p.P298P|CCDC99_uc010jjk.3_Silent_p.P207P	NM_017785	NP_060255	Q96EA4	SPDLY_HUMAN	Homo sapiens coiled-coil domain containing 99 (CCDC99), mRNA.	481					cell division|establishment of mitotic spindle orientation|mitotic metaphase plate congression|mitotic prometaphase|protein localization to kinetochore	condensed chromosome outer kinetochore|cytosol|microtubule organizing center|nucleus|spindle pole	kinetochore binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(8)|ovary(1)|skin(1)	25	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGATTACCGCCTCAGAAAG	0.438													A	169028402	G	A	169028402	2	1	267	1	0	0	0	0	0	0	0	1	2904	1074	38	1		1	CCDC99	5	169028402	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	28302649	169028402	11886858	29	18718											
ZNF323	64288	broad.mit.edu	37	chr6	28297413	28297413	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccagatagggtcttcCtccactttcacaatcttaag	9	13	7	12	0	3	1	1	0	2	1	6	1	6	1	3	2	0	0	3	2	3	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:28297413C>T	uc003nlc.3	-	1	437	c.48G>A	c.(46-48)gaG>gaA	p.E16E	ZNF323_uc003nld.3_Silent_p.E16E|ZNF323_uc010jra.3_Silent_p.E16E|ZNF323_uc003nla.3_Silent_p.E16E|ZNF323_uc003nlb.3_Intron|ZNF323_uc010jrb.3_Intron|ZNF323_uc021yrs.1_Silent_p.E16E|ZNF323_uc021yrt.1_Intron	NM_030899	NP_001230173	Q96LW9	ZN323_HUMAN	Homo sapiens zinc finger protein 323 (ZNF323), transcript variant 1, mRNA.	16					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(2)|prostate(2)|skin(1)	27						TAGGGTCTTCCTCCACTTTCA	0.448													T	28297413	C	T	28297413	2	4	267	1	0	0	0	0	0	0	0	1	17944	680	24	2		2	ZNF323	6	28297413	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		28297413	142817654	30	18719											
EHMT2	10919	broad.mit.edu	37	chr6	31856011	31856011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggccttgtggaagcGgtgggccacacggaagtcag	10	5	15	11	2	1	0	1	0	0	0	1	2	1	2	2	5	1	0	2	5	2	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:31856011G>A	uc003nxz.1	-	12	1562	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C	EHMT2_uc003nxx.1_5'Flank|EHMT2_uc003nxy.1_Missense_Mutation_p.R309C|EHMT2_uc011don.1_Missense_Mutation_p.R541C|EHMT2_uc003nya.1_Missense_Mutation_p.R484C	NM_006709	NP_006700	Q96KQ7	EHMT2_HUMAN	Homo sapiens euchromatic histone-lysine N-methyltransferase 2 (EHMT2), transcript variant NG36/G9a, mRNA.	518					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						TTGTGGAAGCGGTGGGCCACA	0.622													A	31856011	G	A	31856011	3	1	267	1	0	0	0	0	1	0	0	0	5023	1116	39	1	2144	1	EHMT2	6	31856011	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	3558598	31856011	139259056	31	18720											
SLC26A8	116369	broad.mit.edu	37	chr6	35980127	35980127	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagattgtaagcacgcatcGtaggaacctgtgccatgagc	13	8	11	9	2	0	2	0	1	0	1	1	3	0	3	2	1	4	4	2	1	4	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr6:35980127G>A	uc003olm.3	-	2	322	c.211C>T	c.(211-213)Cga>Tga	p.R71*	SLC26A8_uc003oll.3_Nonsense_Mutation_p.R71*|SLC26A8_uc003oln.3_Nonsense_Mutation_p.R71*	NM_001193476	NP_443193	Q96RN1	S26A8_HUMAN	Homo sapiens solute carrier family 26, member 8 (SLC26A8), transcript variant 3, mRNA.	71					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AGCACGCATCGTAGGAACCTG	0.468													A	35980127	G	A	35980127	4	1	267	1	0	0	0	0	0	1	0	0	14617	1153	40	1	2773	1	SLC26A8	6	35980127	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	4124116	35980127	135134940	32	18721											
RAPGEF5	9771	broad.mit.edu	37	chr7	22202112	22202112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactttacgtttcctacgcGgaacgtctgagttttcctct	7	15	8	11	4	2	2	0	1	2	1	4	3	4	3	2	1	3	2	2	1	3	6			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:22202112G>A	uc003svg.3	-	12	1185	c.872C>T	c.(871-873)cCg>cTg	p.P291L	RAPGEF5_uc011jyl.1_5'UTR	NM_012294	NP_036426	Q92565	RPGF5_HUMAN	Homo sapiens Rap guanine nucleotide exchange factor (GEF) 5 (RAPGEF5), mRNA.	141					nervous system development|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	nucleus	GTP-dependent protein binding|Rap guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)|ovary(1)	6						TTTCCTACGCGGAACGTCTGA	0.343													A	22202112	G	A	22202112	3	1	267	1	0	0	0	0	1	0	0	0	13135	1116	39	1	1376	1	RAPGEF5	7	22202112	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		22202112	136936551	33	18722											
ANLN	54443	broad.mit.edu	37	chr7	36478889	36478889	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaattccagtgttgaagaaaGaggttttctagtaagtaaca	15	12	10	4	0	1	3	0	1	1	2	2	4	2	3	1	1	1	4	1	1	6	7			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:36478889G>C	uc003tff.3	+	20	3164	c.2960G>C	c.(2959-2961)aGa>aCa	p.R987T	ANLN_uc011kaz.2_Missense_Mutation_p.R899T|ANLN_uc003tfg.3_Missense_Mutation_p.R950T|ANLN_uc010kxe.3_Missense_Mutation_p.R949T	NM_018685	NP_061155	Q9NQW6	ANLN_HUMAN	Homo sapiens anillin, actin binding protein (ANLN), mRNA.	987	Localization to the cleavage furrow.|PH.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GTTGAAGAAAGAGGTTTTCTA	0.303													C	36478889	G	C	36478889	3	2	267	1	0	0	0	0	1	0	0	0	694	942	33	4	3042	4	ANLN	7	36478889	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	14276777	36478889	122659774	34	18723											
TNS3	64759	broad.mit.edu	37	chr7	47336762	47336762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcggaaggaatggctGtctcgaacaatgaatgagcc	11	7	12	11	2	1	2	0	2	1	0	3	5	1	4	3	3	2	1	3	3	5	0			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:47336762G>A	uc003tnw.3	-	23	3952	c.3594C>T	c.(3592-3594)gaC>gaT	p.D1198D	TNS3_uc022acn.1_Silent_p.D755D	NM_022748	NP_073585	Q68CZ2	TENS3_HUMAN	Homo sapiens tensin 3 (TNS3), mRNA.	1198	SH2.					focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						AGGAATGGCTGTCTCGAACAA	0.567													A	47336762	G	A	47336762	2	1	267	1	0	0	0	0	0	0	0	1	16444	1368	48	2		2	TNS3	7	47336762	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08	10857873	47336762	111801901	35	18724											
PCLO	27445	broad.mit.edu	37	chr7	82764222	82764222	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttggccagcggtaggtcGtgggccagggggtgttggtg	4	10	21	6	2	0	0	0	0	0	0	1	0	0	0	2	7	1	3	2	7	1	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:82764222G>A	uc003uhx.2	-	2	2933	c.2644C>T	c.(2644-2646)Cga>Tga	p.R882*	PCLO_uc003uhv.2_Nonsense_Mutation_p.R882*	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	828	Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.R882L(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCGGTAGGTCGTGGGCCAGGG	0.517													A	82764222	G	A	82764222	4	1	267	1	0	0	0	0	0	1	0	0	11659	1153	40	1	12893	1	PCLO	7	82764222	Nonsense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	35427460	82764222	76374441	36	18725											
MUC17	140453	broad.mit.edu	37	chr7	100674926	100674926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacatctacaaatgtcGtggagccaagaatgtatttg	14	11	9	7	1	1	1	0	0	1	1	2	2	1	2	1	1	4	2	1	1	7	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:100674926G>A	uc003uxp.1	+	2	282	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	77						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)					TACAAATGTCGTGGAGCCAAG	0.448													A	100674926	G	A	100674926	3	1	267	1	0	0	0	0	1	0	0	0	10050	1145	40	1	239	1	MUC17	7	100674926	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	17910704	100674926	58463737	37	18726											
ASB10	136371	broad.mit.edu	37	chr7	150878052	150878052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggcccctggccagacacGgacggcgccatggttgagca	8	4	16	13	3	0	2	0	1	0	1	0	4	0	3	4	5	1	2	4	5	0	1	rs104886484		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:150878052G>A	uc003wjm.1	-	2	1339	c.1078C>T	c.(1078-1080)Cgt>Tgt	p.R360C	ASB10_uc003wjl.1_Missense_Mutation_p.R360C|ASB10_uc003wjn.1_Missense_Mutation_p.R345C	NM_001142459	NP_001135931	Q8WXI3	ASB10_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 10 (ASB10), transcript variant 1, mRNA.	360					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGCCAGACACGGACGGCGCCA	0.701													A	150878052	G	A	150878052	3	1	267	1	0	0	0	0	1	0	0	0	1019	1116	39	1	337	1	ASB10	7	150878052	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	50203126	150878052	8260611	38	18727											
MLL3	58508	broad.mit.edu	37	chr7	151921652	151921652	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccacaggcctcacacAcagtgcactcaagacacctc	11	6	5	19	0	2	1	2	0	0	1	4	1	3	1	4	1	1	1	4	1	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr7:151921652A>C	uc003wla.3	-	18	3245	c.3026T>G	c.(3025-3027)gTg>gGg	p.V1009G	MLL3_uc003wkz.3_Missense_Mutation_p.V70G	NM_170606	NP_733751	Q8NEZ4	MLL3_HUMAN	Homo sapiens myeloid/lymphoid or mixed-lineage leukemia 3 (MLL3), mRNA.	1009					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(6)|biliary_tract(9)|breast(24)|central_nervous_system(18)|cervix(6)|endometrium(31)|haematopoietic_and_lymphoid_tissue(1)|kidney(26)|large_intestine(52)|liver(1)|lung(102)|ovary(10)|pancreas(17)|prostate(15)|skin(20)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(8)|urinary_tract(15)	365	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.0906)	OV - Ovarian serous cystadenocarcinoma(82;0.00715)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0597)|BRCA - Breast invasive adenocarcinoma(188;0.0462)		GGCCTCACACACAGTGCACTC	0.448			N		medulloblastoma								C	151921652	A	C	151921652	3	2	267	1	0	0	0	0	1	0	0	0	9697	159	6	5	11873	5	MLL3	7	151921652	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	1043600	151921652	7217011	39	18728											
NFIB	4781	broad.mit.edu	37	chr9	14307176	14307176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagacgccagactttgTctgcctgtcgcaggcagtcg	7	9	12	13	3	1	2	0	0	1	2	4	3	2	2	3	1	1	2	3	1	0	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:14307176T>C	uc022bdo.1	-	1	909	c.374A>G	c.(373-375)gAc>gGc	p.D125G	NFIB_uc003zlf.3_Missense_Mutation_p.D125G|NFIB_uc003zle.3_Missense_Mutation_p.D125G|NFIB_uc022bdp.1_Missense_Mutation_p.D151G|NFIB_uc011lmo.2_Missense_Mutation_p.D125G	NM_001190737	NP_001177666	O00712	NFIB_HUMAN	Homo sapiens nuclear factor I/B (NFIB), transcript variant 1, mRNA.	125					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		CCAGACTTTGTCTGCCTGTCG	0.522			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								C	14307176	T	C	14307176	3	2	267	1	0	0	0	0	1	0	0	0	10447	1667	58	3	920	3	NFIB	9	14307176	Missense_Mutation	SNP	T	TCGA-76-6192-01A-11D-1696-08		14307176	126906255	40	18729											
FAM75A6	389730	broad.mit.edu	37	chr9	43627272	43627272	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagggttggcggtgggacAggggctgggcctggaaaagc	9	6	20	6	1	0	0	0	0	0	0	0	2	0	2	1	8	1	2	1	8	4	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:43627272A>G	uc011lrb.2	-	3	1444	c.1415T>C	c.(1414-1416)cTg>cCg	p.L472P		NM_001145196	NP_001138668	Q5VVP1	F75A6_HUMAN	Homo sapiens family with sequence similarity 75, member A6 (FAM75A6), mRNA.	472						integral to membrane				breast(2)|endometrium(3)|kidney(4)|lung(36)|prostate(4)|skin(2)|soft_tissue(1)|stomach(1)|urinary_tract(1)	54						GCGGTGGGACAGGGGCTGGGC	0.522													G	43627272	A	G	43627272	3	3	267	1	0	0	0	0	1	0	0	0	5672	188	7	3	2620	3	FAM75A6	9	43627272	Missense_Mutation	SNP	A	TCGA-76-6192-01A-11D-1696-08	29320096	43627272	97586159	41	18730											
TMC1	117531	broad.mit.edu	37	chr9	75445373	75445373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttaatttagtttggcCatctattatctcaatgctac	9	20	4	8	0	3	0	1	0	3	0	4	0	3	0	1	1	2	2	1	1	6	9			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:75445373C>T	uc004aiz.1	+	21	2676	c.2136C>T	c.(2134-2136)gcC>gcT	p.A712A	TMC1_uc010moz.1_Silent_p.A670A|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Silent_p.A566A|TMC1_uc010mpa.1_Silent_p.A566A	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	712					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTAGTTTGGCCATCTATTATC	0.303													T	75445373	C	T	75445373	2	4	267	1	0	0	0	0	0	0	0	1	16084	581	21	2		2	TMC1	9	75445373	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08	31818101	75445373	65768058	42	18731											
PMPCA	23203	broad.mit.edu	37	chr9	139311437	139311437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacacagttggcctccaccGtttctgccccacagaaaacg	11	7	8	15	2	1	1	0	0	1	1	2	2	2	1	5	1	3	2	5	1	3	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr9:139311437G>A	uc004chl.3	+	6	673	c.668G>A	c.(667-669)cGt>cAt	p.R223H	PMPCA_uc011mdz.2_Missense_Mutation_p.R92H|PMPCA_uc010nbl.3_Missense_Mutation_p.R123H|PMPCA_uc004chm.1_5'UTR|PMPCA_uc004chn.1_5'Flank	NM_015160	NP_055975	Q10713	MPPA_HUMAN	Homo sapiens peptidase (mitochondrial processing) alpha (PMPCA), nuclear gene encoding mitochondrial protein, mRNA.	223					proteolysis	mitochondrial inner membrane|mitochondrial matrix	metalloendopeptidase activity|zinc ion binding	p.R223C(1)		endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	14		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;9.3e-06)|Epithelial(140;1.15e-05)		GGCCTCCACCGTTTCTGCCCC	0.562													A	139311437	G	A	139311437	3	1	267	1	0	0	0	0	1	0	0	0	12217	1145	40	1	694	1	PMPCA	9	139311437	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	63866064	139311437	1901994	43	18732											
ITGA8	8516	broad.mit.edu	37	chr10	15649777	15649777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatcaaggaagagcgtccGtttaatagctcctttctgtt	9	15	9	8	2	2	1	1	0	1	1	4	2	4	2	2	1	2	4	2	1	5	6			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:15649777G>A	uc001ioc.1	-	16	1663	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	ITGA8_uc010qcb.1_Missense_Mutation_p.R540W	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	555					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity	p.R555Q(1)		NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						AAGAGCGTCCGTTTAATAGCT	0.433													A	15649777	G	A	15649777	3	1	267	1	0	0	0	0	1	0	0	0	7940	1144	40	1	1584	1	ITGA8	10	15649777	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		15649777	119884970	44	18733											
PTEN	5728	broad.mit.edu	37	chr10	89720650	89720650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttttttttttttaGgacaaaatgtttcacttttg	7	26	4	4	0	2	0	1	0	1	0	2	1	2	1	0	1	0	1	0	1	3	12			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr10:89720650G>A	uc001kfb.3	+	8	1834	c.802_splice	c.e8-1	p.D268_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	268	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.N212fs*1(2)|p.Y27fs*1(2)|p.M264fs*8(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		tttttttttAGGACAAAATGT	0.264		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720650	G	A	89720650	5	1	267	1	0	0	0	0	0	0	1	0	12823	1014	35	2	831	2	PTEN	10	89720650	Splice_Site	SNP	G	TCGA-76-6192-01A-11D-1696-08	74070873	89720650	45814097	45	18734											
TRIM21	6737	broad.mit.edu	37	chr11	4406616	4406616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaggactgaagaagggccGcagaggtcctgtaaaggcac	13	4	14	10	1	0	3	0	1	0	2	1	4	1	4	3	4	0	3	3	4	4	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:4406616G>A	uc001lyy.1	-	6	1440	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	443	B30.2/SPRY.				cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		AAGAAGGGCCGCAGAGGTCCT	0.488													A	4406616	G	A	4406616	3	1	267	1	0	0	0	0	1	0	0	0	16596	1086	38	1	104	1	TRIM21	11	4406616	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		4406616	130599900	46	18735											
OR52E4	390081	broad.mit.edu	37	chr11	5906308	5906308	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatttttttcttttatgacAcatcgttttggccaaaacat	10	18	5	8	1	1	1	0	1	1	0	2	1	1	1	1	1	1	2	1	1	3	7			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:5906308A>T	uc010qzs.2	+	0	786	c.786A>T	c.(784-786)acA>acT	p.T262T	TRIM5_uc001mbq.1_Intron	NM_001005165	NP_001005165	Q8NGH9	O52E4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily E, member 4 (OR52E4), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTTTTATGACACATCGTTTTG	0.423													T	5906308	A	T	5906308	2	4	267	1	0	0	0	0	0	0	0	1	11192	146	6	5		5	OR52E4	11	5906308	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08	1499692	5906308	129100208	47	18736											
BTBD10	84280	broad.mit.edu	37	chr11	13441120	13441120	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttatattccgagctccttcTtttgcattttcatatacaaa	10	18	3	10	1	2	0	1	0	1	0	4	1	4	0	2	0	3	2	2	0	5	10			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:13441120T>C	uc010rcl.2	-	2	766	c.495A>G	c.(493-495)aaA>aaG	p.K165K	BTBD10_uc001mkz.3_Silent_p.K157K|BTBD10_uc009ygn.3_Non-coding_Transcript|BTBD10_uc010rcm.2_Silent_p.K109K|BTBD10_uc010rcn.2_Silent_p.K126K|BTBD10_uc009ygo.3_Silent_p.K109K	NM_032320	NP_115696	Q9BSF8	BTBDA_HUMAN	Homo sapiens BTB (POZ) domain containing 10 (BTBD10), mRNA.	157						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		GAGCTCCTTCTTTTGCATTTT	0.418													C	13441120	T	C	13441120	2	2	267	1	0	0	0	0	0	0	0	1	1547	1606	56	3		3	BTBD10	11	13441120	Silent	SNP	T	TCGA-76-6192-01A-11D-1696-08	7534812	13441120	121565396	48	18737											
MMP7	4316	broad.mit.edu	37	chr11	102398591	102398591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcattatttctatgaCgcgggagtttaacattccag	9	15	8	9	2	2	1	0	1	2	0	3	2	3	2	1	1	2	2	1	1	3	7	rs145006821	by1000genomes	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr11:102398591C>T	uc001phb.3	-	1	279	c.232G>A	c.(232-234)Gtc>Atc	p.V78I	MMP7_uc009yxd.3_Missense_Mutation_p.V78I|MMP7_uc010rus.1_Missense_Mutation_p.V78I	NM_002423	NP_002414	P09237	MMP7_HUMAN	Homo sapiens matrix metallopeptidase 7 (matrilysin, uterine) (MMP7), mRNA.	78					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.V78I(2)|p.R77R(1)		large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_cancers(8;2.04e-05)|all_epithelial(12;0.00053)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0105)|all cancers(10;0.0496)|Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0147)		ATTTCTATGACGCGGGAGTTT	0.408													T	102398591	C	T	102398591	3	4	267	1	0	0	0	0	1	0	0	0	9743	536	19	1	591	1	MMP7	11	102398591	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	88957471	102398591	32607925	49	18738											
TEAD4	7004	broad.mit.edu	37	chr12	3121377	3121377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctcgtcgcaaagctcgCgagatccaggccaagctaaa	11	6	11	13	4	0	1	0	0	0	1	4	2	1	1	2	2	2	4	2	2	4	1	rs112112805		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:3121377C>T	uc010sej.2	+	4	625	c.333C>T	c.(331-333)cgC>cgT	p.R111R	TEAD4_uc010sek.2_Silent_p.R111R|TEAD4_uc001qln.3_5'UTR	NM_201443	NP_958851	Q15561	TEAD4_HUMAN	Homo sapiens TEA domain family member 4 (TEAD4), transcript variant 3, mRNA.	111					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GCAAAGCTCGCGAGATCCAGG	0.597													T	3121377	C	T	3121377	2	4	267	1	0	0	0	0	0	0	0	1	15841	755	27	1		1	TEAD4	12	3121377	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		3121377	130730518	50	18739											
PLEKHA5	54477	broad.mit.edu	37	chr12	19436297	19436297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccctgaaggttatagaaCactcccaagaaacagcaaga	17	6	7	11	0	0	4	0	1	0	3	1	4	1	4	2	1	4	2	2	1	8	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:19436297C>G	uc001reb.3	+	10	1487	c.1379C>G	c.(1378-1380)aCa>aGa	p.T460R	PLEKHA5_uc010sie.2_Missense_Mutation_p.T466R|PLEKHA5_uc001rea.3_Missense_Mutation_p.T460R|PLEKHA5_uc009zin.3_Missense_Mutation_p.T218R|PLEKHA5_uc010sig.2_Missense_Mutation_p.T352R|PLEKHA5_uc010sih.1_Missense_Mutation_p.T352R|PLEKHA5_uc021qvy.1_Missense_Mutation_p.T352R|PLEKHA5_uc001rec.1_Missense_Mutation_p.T148R	NM_019012	NP_061885	Q9HAU0	PKHA5_HUMAN	Homo sapiens pleckstrin homology domain containing, family A member 5 (PLEKHA5), transcript variant 1, mRNA.	460							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GGTTATAGAACACTCCCAAGA	0.438													G	19436297	C	G	19436297	3	3	267	1	0	0	0	0	1	0	0	0	12136	478	17	4	1421	4	PLEKHA5	12	19436297	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	16314920	19436297	114415598	51	18740											
CYP27B1	1594	broad.mit.edu	37	chr12	58158677	58158677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctccgttcctcatggctgCctctgcctctcgccgctcca	2	12	7	20	3	3	0	1	0	2	0	8	0	7	0	7	1	2	3	7	1	0	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr12:58158677C>T	uc001spz.1	-	4	975	c.823G>A	c.(823-825)Gca>Aca	p.A275T	CYP27B1_uc001sqa.1_Missense_Mutation_p.A40T|CYP27B1_uc001sqb.1_Missense_Mutation_p.G155D|CYP27B1_uc001sqc.1_Missense_Mutation_p.G155D	NM_000785	NP_000776	O15528	CP27B_HUMAN	Homo sapiens cytochrome P450, family 27, subfamily B, polypeptide 1 (CYP27B1), nuclear gene encoding mitochondrial protein, mRNA.	275					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	CTCATGGCTGCCTCTGCCTCT	0.617													T	58158677	C	T	58158677	3	4	267	1	0	0	0	0	1	0	0	0	4192	739	26	2	723	2	CYP27B1	12	58158677	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	38722380	58158677	75693218	52	18741											
ATP8A2	51761	broad.mit.edu	37	chr13	26343355	26343355	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaacaactcggattaCgccatcgcacaggtcagcag	12	5	9	15	3	1	0	1	0	0	0	3	1	1	1	3	2	4	2	3	2	3	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr13:26343355C>T	uc001uqk.3	+	25	2698	c.2556C>T	c.(2554-2556)taC>taT	p.Y852Y	ATP8A2_uc010tdi.2_Silent_p.Y812Y|ATP8A2_uc010tdj.2_Non-coding_Transcript|ATP8A2_uc010aaj.1_Silent_p.Y402Y	NM_016529	NP_057613	Q9NTI2	AT8A2_HUMAN	Homo sapiens ATPase, aminophospholipid transporter, class I, type 8A, member 2 (ATP8A2), mRNA.	812					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		ACTCGGATTACGCCATCGCAC	0.582													T	26343355	C	T	26343355	2	4	267	1	0	0	0	0	0	0	0	1	1198	547	19	1		1	ATP8A2	13	26343355	Silent	SNP	C	TCGA-76-6192-01A-11D-1696-08		26343355	88826523	53	18742											
SEMA6D	80031	broad.mit.edu	37	chr15	48053911	48053911	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcctggcaagatgcccAtttgatgccagacaaaccaa	13	7	10	11	0	0	3	0	1	0	2	0	3	0	3	4	2	3	1	4	2	3	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:48053911A>G	uc010bek.3	+	6	861	c.501A>G	c.(499-501)ccA>ccG	p.P167P	SEMA6D_uc001zvw.3_Silent_p.P167P|SEMA6D_uc001zvx.1_Silent_p.P167P|SEMA6D_uc001zvy.3_Silent_p.P167P|SEMA6D_uc001zvz.3_Silent_p.P167P|SEMA6D_uc001zwa.3_Silent_p.P167P|SEMA6D_uc001zwb.3_Silent_p.P167P|SEMA6D_uc001zwc.3_Silent_p.P167P	NM_153618	NP_705871	Q8NFY4	SEM6D_HUMAN	Homo sapiens sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D (SEMA6D), transcript variant 4, mRNA.	167	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.C166Y(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGATGCCCATTTGATGCCA	0.373													G	48053911	A	G	48053911	2	3	267	1	0	0	0	0	0	0	0	1	14135	204	8	3		3	SEMA6D	15	48053911	Silent	SNP	A	TCGA-76-6192-01A-11D-1696-08		48053911	54477481	54	18743											
CSNK1G1	53944	broad.mit.edu	37	chr15	64472574	64472574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccactacctccacctcgGcatgagctgtgattggtgca	7	10	9	15	1	0	2	0	2	0	0	3	2	2	2	5	2	3	3	5	2	1	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr15:64472574G>A	uc002anf.3	-	10	1667	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	CSNK1G1_uc002ane.3_Non-coding_Transcript|CSNK1G1_uc002ang.1_Missense_Mutation_p.A396V|CSNK1G1_uc002anh.1_Missense_Mutation_p.A433V	NM_022048	NP_071331	Q9HCP0	KC1G1_HUMAN	Homo sapiens casein kinase 1, gamma 1 (CSNK1G1), mRNA.	396					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						CTCCACCTCGGCATGAGCTGT	0.483													A	64472574	G	A	64472574	3	1	267	1	0	0	0	0	1	0	0	0	3987	1203	42	2	89	2	CSNK1G1	15	64472574	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	16418663	64472574	38058818	55	18744											
ITGAX	3687	broad.mit.edu	37	chr16	31383748	31383748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgcgtctgaacttcaCgctggtgggcaagcccctcc	6	10	10	15	2	2	1	1	1	1	0	3	1	3	1	4	2	4	2	4	2	3	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr16:31383748C>T	uc002ebt.3	+	17	2277	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M	ITGAX_uc002ebu.1_Missense_Mutation_p.T737M	NM_000887	NP_000878	P20702	ITAX_HUMAN	Homo sapiens integrin, alpha X (complement component 3 receptor 4 subunit) (ITGAX), mRNA.	737					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CTGAACTTCACGCTGGTGGGC	0.642													T	31383748	C	T	31383748	3	4	267	1	0	0	0	0	1	0	0	0	7947	536	19	1	2280	1	ITGAX	16	31383748	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		31383748	58971005	56	18745											
SPAG5	10615	broad.mit.edu	37	chr17	26919636	26919636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgtagttgttcagaacagGgatttggtggagactcctct	10	13	12	6	0	2	2	1	0	1	2	3	4	3	3	1	3	1	3	1	3	3	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr17:26919636G>A	uc002hbq.3	-	2	718	c.626C>T	c.(625-627)cCc>cTc	p.P209L	SPAG5_uc010waq.1_Intron	NM_006461	NP_006452	Q96R06	SPAG5_HUMAN	Homo sapiens sperm associated antigen 5 (SPAG5), mRNA.	209					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TTCAGAACAGGGATTTGGTGG	0.483													A	26919636	G	A	26919636	3	1	267	1	0	0	0	0	1	0	0	0	15077	1232	43	2	3043	2	SPAG5	17	26919636	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		26919636	54275574	57	18746											
ADAMTS10	81794	broad.mit.edu	37	chr19	8661947	8661947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggccgctgtggttcaCgatggatttctgccacttac	6	12	11	12	2	2	0	1	0	1	0	2	2	2	1	3	3	2	2	3	3	1	3	rs141147742		TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:8661947C>T	uc002mkj.1	-	7	1238	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	ADAMTS10_uc002mkk.1_5'UTR	NM_030957	NP_112219	Q9H324	ATS10_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 10 (ADAMTS10), mRNA.	322	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CTGTGGTTCACGATGGATTTC	0.572													T	8661947	C	T	8661947	3	4	267	1	0	0	0	0	1	0	0	0	256	536	19	1	2423	1	ADAMTS10	19	8661947	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		8661947	50467036	58	18747											
SLC1A6	6511	broad.mit.edu	37	chr19	15073138	15073138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcctggttaccaccctcGtgctgtactgcgtcttgaac	5	13	10	13	2	1	1	0	1	1	0	3	1	2	1	3	2	5	3	3	2	3	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:15073138G>A	uc002naa.1	-	4	618	c.611C>T	c.(610-612)aCg>aTg	p.T204M	SLC1A6_uc010dzu.1_Missense_Mutation_p.T204M|SLC1A6_uc010xod.1_Missense_Mutation_p.T140M|SLC1A6_uc002nab.3_Missense_Mutation_p.T204M|SLC1A6_uc002nac.3_Missense_Mutation_p.T204M	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	204					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T204M(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TACCACCCTCGTGCTGTACTG	0.532													A	15073138	G	A	15073138	3	1	267	1	0	0	0	0	1	0	0	0	14530	1145	40	1	1103	1	SLC1A6	19	15073138	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	6411191	15073138	44055845	59	18748											
HIF3A	64344	broad.mit.edu	37	chr19	46807322	46807322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaccatcagctacctgcGcatgcaccgcctctgcgccg	6	7	8	20	4	3	0	2	0	1	0	3	0	3	0	6	0	5	3	6	0	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:46807322G>A	uc002peh.3	+	1	225	c.194G>A	c.(193-195)cGc>cAc	p.R65H	HIF3A_uc002pef.2_Missense_Mutation_p.R65H|HIF3A_uc002peg.4_Missense_Mutation_p.R65H|HIF3A_uc010xxx.2_Non-coding_Transcript|HIF3A_uc021uwf.1_Missense_Mutation_p.R9H|HIF3A_uc002pej.2_Missense_Mutation_p.A45T|HIF3A_uc010xxy.2_Missense_Mutation_p.A45T|HIF3A_uc002pel.3_Missense_Mutation_p.R63H|HIF3A_uc010xxz.2_Missense_Mutation_p.A63T	NM_152795	NP_690008	Q9Y2N7	HIF3A_HUMAN	Homo sapiens hypoxia inducible factor 3, alpha subunit (HIF3A), transcript variant 3, mRNA.	65	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		AGCTACCTGCGCATGCACCGC	0.672													A	46807322	G	A	46807322	3	1	267	1	0	0	0	0	1	0	0	0	7160	1087	38	1	224	1	HIF3A	19	46807322	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	31734184	46807322	12321661	60	18749											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52149086	52149086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcacctgagctccttggcGtttcacctgacaggtgaggt	6	11	13	11	1	2	3	2	3	0	0	3	3	3	3	3	4	1	2	3	4	0	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:52149086G>A	uc002pxf.4	-	2	769	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C		NM_001098612	NP_001092082	Q08ET2	SIG14_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 14 (SIGLEC14), mRNA.	217	Ig-like C2-type 1.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R217C(3)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		GCTCCTTGGCGTTTCACCTGA	0.642													A	52149086	G	A	52149086	3	1	267	1	0	0	0	0	1	0	0	0	14403	1145	40	1	561	1	SIGLEC14	19	52149086	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	5341764	52149086	6979897	61	18750											
NLRP5	126206	broad.mit.edu	37	chr19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccctcgtcagcaacCggagcttgacacacctgtgc	8	7	9	17	2	2	1	2	1	0	0	3	2	2	2	4	1	5	2	4	1	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr19:56552352C>T	uc002qmj.3	+	10	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W	NLRP5_uc002qmi.3_Missense_Mutation_p.R932W	NM_153447	NP_703148	P59047	NALP5_HUMAN	Homo sapiens NLR family, pyrin domain containing 5 (NLRP5), mRNA.	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562													T	56552352	C	T	56552352	3	4	267	1	0	0	0	0	1	0	0	0	10556	643	23	1	2893	1	NLRP5	19	56552352	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08	4403266	56552352	2576631	62	18751											
SEL1L2	80343	broad.mit.edu	37	chr20	13830889	13830889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagtttccagtttcatgacgGcaaagagcacaggtatgtgg	11	11	12	7	1	1	2	1	1	0	1	2	2	2	2	1	3	1	5	1	3	3	4			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:13830889G>A	uc010gcf.3	-	18	1977	c.1895C>T	c.(1894-1896)gCc>gTc	p.A632V	SEL1L2_uc002woq.4_Missense_Mutation_p.A493V|SEL1L2_uc010zrl.2_Missense_Mutation_p.A519V|SEL1L2_uc002wor.3_Non-coding_Transcript	NM_025229	NP_079505	Q5TEA6	SE1L2_HUMAN	Homo sapiens sel-1 suppressor of lin-12-like 2 (C. elegans) (SEL1L2), mRNA.	632						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTCATGACGGCAAAGAGCAC	0.458													A	13830889	G	A	13830889	3	1	267	1	0	0	0	0	1	0	0	0	14104	1203	42	2	179	2	SEL1L2	20	13830889	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		13830889	49194631	63	18752											
TSHZ2	128553	broad.mit.edu	37	chr20	51870967	51870967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccccggctaagaaacgcGtttttgatgtcaatcggccg	9	10	10	12	5	2	2	2	1	0	1	3	2	2	2	3	2	1	2	3	2	3	3	rs138844500	byFrequency	TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr20:51870967G>A	uc002xwo.3	+	1	1857	c.970G>A	c.(970-972)Gtt>Att	p.V324I	TSHZ2_uc021wex.1_Missense_Mutation_p.V321I	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	324					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V324F(2)|p.V324I(2)|p.R323L(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TAAGAAACGCGTTTTTGATGT	0.458													A	51870967	G	A	51870967	3	1	267	1	0	0	0	0	1	0	0	0	16725	1145	40	1	976	1	TSHZ2	20	51870967	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08	38040078	51870967	11154553	64	18753											
SIM2	6493	broad.mit.edu	37	chr21	38092132	38092132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggcaggtggagctcaCgggcaacagtatttatgaat	11	9	12	9	2	1	1	1	1	0	0	2	2	2	2	1	4	2	4	1	4	4	3			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr21:38092132C>T	uc002yvr.2	+	3	415	c.359C>T	c.(358-360)aCg>aTg	p.T120M	SIM2_uc002yvq.3_Missense_Mutation_p.T120M	NM_005069	NP_005060	Q14190	SIM2_HUMAN	Homo sapiens single-minded homolog 2 (Drosophila) (SIM2), transcript variant SIM2, mRNA.	120	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GTGGAGCTCACGGGCAACAGT	0.602													T	38092132	C	T	38092132	3	4	267	1	0	0	0	0	1	0	0	0	14418	536	19	1	373	1	SIM2	21	38092132	Missense_Mutation	SNP	C	TCGA-76-6192-01A-11D-1696-08		38092132	10037763	65	18754											
GCAT	23464	broad.mit.edu	37	chr22	38211153	38211153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatcggctgcgcctggtGgccactgatggggccttttc	5	10	14	12	2	0	1	0	1	0	0	2	1	0	1	3	5	2	2	3	5	1	2			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chr22:38211153G>A	uc003aua.2	+	4	738	c.675G>A	c.(673-675)gtG>gtA	p.V225V	GCAT_uc003atz.3_Silent_p.V199V	NM_001171690	NP_001165161	O75600	KBL_HUMAN	Homo sapiens glycine C-acetyltransferase (GCAT), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	199					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGCGCCTGGTGGCCACTGATG	0.577													A	38211153	G	A	38211153	2	1	267	1	0	0	0	0	0	0	0	1	6338	1335	47	2		2	GCAT	22	38211153	Silent	SNP	G	TCGA-76-6192-01A-11D-1696-08		38211153	13093413	66	18755											
LUZP4	51213	broad.mit.edu	37	chrX	114541268	114541268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcactcagagagatctcGtggccactgagagagatctc	11	9	11	10	1	4	4	2	1	2	4	6	7	4	4	1	1	0	0	1	1	1	1			TCGA-76-6192-01A-11D-1696-08	TCGA-76-6192-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c29754bc-44e8-4980-98a1-b8d69700f4a3	cf01308d-b06f-488b-b5e8-a37d998eed16	g.chrX:114541268G>A	uc004eqa.3	+	3	875	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_uc004eqb.3_Missense_Mutation_p.V199M	NM_016383	NP_057467	Q9P127	LUZP4_HUMAN	Homo sapiens leucine zipper protein 4 (LUZP4), mRNA.	281						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428													A	114541268	G	A	114541268	3	1	267	1	0	0	0	0	1	0	0	0	9158	1145	40	1	855	1	LUZP4	23	114541268	Missense_Mutation	SNP	G	TCGA-76-6192-01A-11D-1696-08		114541268	40729292	67	18756											
SLC45A1	50651	broad.mit.edu	37	chr1	8395553	8395553	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgagctgacgggctccagCgagcgcgcggagcagcctct	7	4	16	14	6	1	1	0	1	1	0	2	4	2	2	2	2	6	3	2	2	0	0			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:8395553C>T	uc001apb.3	+	4	1500	c.1500C>T	c.(1498-1500)agC>agT	p.S500S	SLC45A1_uc001apc.3_Silent_p.S198S	NM_001080397	NP_001073866	Q9Y2W3	S45A1_HUMAN	Homo sapiens solute carrier family 45, member 1 (SLC45A1), mRNA.	500					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CGGGCTCCAGCGAGCGCGCGG	0.647													T	8395553	C	T	8395553	2	4	268	1	0	0	0	0	0	0	0	1	14734	767	27	1		1	SLC45A1	1	8395553	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		8395553	240855068	1	18757											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77094323	77094323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacagaagggtatagaaaAgtcccctaccattattatga	16	9	9	7	0	0	3	0	1	0	2	1	4	1	4	3	2	1	1	3	2	8	5			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:77094323A>T	uc001dhh.2	+	4	913	c.750A>T	c.(748-750)aaA>aaT	p.K250N	ST6GALNAC3_uc010orh.1_Missense_Mutation_p.K149N	NM_152996	NP_694541	Q8NDV1	SIA7C_HUMAN	Homo sapiens ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1, 3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3 (ST6GALNAC3), transcript variant 1, mRNA.	250					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						GGTATAGAAAAGTCCCCTACC	0.363													T	77094323	A	T	77094323	3	4	268	1	0	0	0	0	1	0	0	0	15321	69	3	5	782	5	ST6GALNAC3	1	77094323	Missense_Mutation	SNP	A	TCGA-76-6193-01A-11D-1696-08	68698770	77094323	172156298	2	18758											
HCN3	57657	broad.mit.edu	37	chr1	155254428	155254428	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacctgtaggcatgccCgacgtctggctcaccatgct	7	8	11	15	2	2	0	1	0	1	0	2	1	2	0	3	3	2	5	3	3	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:155254428C>G	uc001fjz.1	+	3	977	c.969C>G	c.(967-969)ccC>ccG	p.P323P	HCN3_uc010pfz.1_Intron	NM_020897	NP_065948	Q9P1Z3	HCN3_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 3 (HCN3), mRNA.	323						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.P323L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TAGGCATGCCCGACGTCTGGC	0.597													G	155254428	C	G	155254428	2	3	268	1	0	0	0	0	0	0	0	1	7053	639	23	4		4	HCN3	1	155254428	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	78160105	155254428	93996193	3	18759											
CD1B	910	broad.mit.edu	37	chr1	158300836	158300836	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctggataacatgaaaggaGgtcggcccctggaaggctgt	10	8	15	8	1	1	1	0	1	1	0	2	4	1	4	2	6	1	1	2	6	3	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:158300836G>A	uc001frx.3	-	1	186	c.78C>T	c.(76-78)acC>acT	p.T26T	CD1B_uc001frw.3_Silent_p.T26T|CD1B_uc010pic.1_Silent_p.T26T	NM_001764	NP_001755	P29016	CD1B_HUMAN	Homo sapiens CD1b molecule (CD1B), mRNA.	26					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CATGAAAGGAGGTCGGCCCCT	0.458													A	158300836	G	A	158300836	2	1	268	1	0	0	0	0	0	0	0	1	3005	987	35	2		2	CD1B	1	158300836	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08	3046408	158300836	90949785	4	18760											
VSIG8	391123	broad.mit.edu	37	chr1	159827989	159827989	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggttgatggaggcatcGtactggcttgggtctgaggc	7	11	17	6	1	1	3	0	3	1	0	2	4	1	4	0	6	1	4	0	6	1	3	rs138280068		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:159827989G>C	uc001fuh.3	-	2	457	c.321C>G	c.(319-321)taC>taG	p.Y107*	VSIG8_uc001fug.1_5'Flank	NM_001013661	NP_001013683	Q5VU13	VSIG8_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 8 (VSIG8), mRNA.	107	Ig-like V-type 1.					integral to membrane				central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	8	all_hematologic(112;0.0597)					TGGAGGCATCGTACTGGCTTG	0.542													C	159827989	G	C	159827989	4	2	268	1	0	0	0	0	0	1	0	0	17328	1140	40	4	943	4	VSIG8	1	159827989	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	1527153	159827989	89422632	5	18761											
ITLN2	142683	broad.mit.edu	37	chr1	160920979	160920979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccacgcatgtcattctCgtgcacgctggccaccaggg	6	9	10	16	3	2	0	1	0	1	0	4	0	3	0	3	2	1	3	3	2	0	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:160920979C>T	uc001fxd.3	-	3	353	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ITLN2_uc009wts.3_Missense_Mutation_p.E98K|ITLN2_uc010pju.2_Missense_Mutation_p.E16K	NM_080878	NP_543154	Q8WWU7	ITLN2_HUMAN	Homo sapiens intelectin 2 (ITLN2), mRNA.	99	Fibrinogen C-terminal.				signal transduction	extracellular region	receptor binding|sugar binding			endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	19	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTCATTCTCGTGCACGCTG	0.582													T	160920979	C	T	160920979	3	4	268	1	0	0	0	0	1	0	0	0	7969	893	31	1	702	1	ITLN2	1	160920979	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	1092990	160920979	88329642	6	18762											
LAMC2	3918	broad.mit.edu	37	chr1	183207550	183207550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagcatccttaaaaacCtcagaggttagtacttcatg	13	12	8	8	0	2	2	2	1	0	2	3	3	3	2	2	1	3	3	2	1	5	5			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr1:183207550C>T	uc001gqa.2	+	18	3177	c.2863C>T	c.(2863-2865)Ctc>Ttc	p.L955F	LAMC2_uc001gpz.4_Missense_Mutation_p.L955F|LAMC2_uc010poa.2_Missense_Mutation_p.L655F	NM_005562	NP_005553	Q13753	LAMC2_HUMAN	Homo sapiens laminin, gamma 2 (LAMC2), transcript variant 1, mRNA.	955	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCTTAAAAACCTCAGAGGTTA	0.413													T	183207550	C	T	183207550	3	4	268	1	0	0	0	0	1	0	0	0	8674	681	24	2	2937	2	LAMC2	1	183207550	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	22286571	183207550	66043071	7	18763											
KLF11	8462	broad.mit.edu	37	chr2	10188462	10188462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgtgttcgtgggacctgCtgtgcctcagggagctgtga	5	11	15	10	1	1	1	1	1	0	0	2	3	1	3	3	2	3	3	3	2	0	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:10188462C>T	uc002raf.1	+	2	1160	c.998C>T	c.(997-999)gCt>gTt	p.A333V	KLF11_uc021vdq.1_Missense_Mutation_p.A316V|KLF11_uc010yjc.2_Missense_Mutation_p.A316V	NM_003597	NP_001171189	O14901	KLF11_HUMAN	Homo sapiens Kruppel-like factor 11 (KLF11), transcript variant 1, mRNA.	333					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		GTGGGACCTGCTGTGCCTCAG	0.622											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10188462	C	T	10188462	3	4	268	1	0	0	0	0	1	0	0	0	8397	797	28	2	1008	2	KLF11	2	10188462	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		10188462	233010911	8	18764											
ACTG2	72	broad.mit.edu	37	chr2	74140711	74140711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggacttggctggccGtgacctcacggactacctca	6	8	12	15	3	2	1	2	1	0	0	2	3	2	3	4	4	1	1	4	4	1	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:74140711G>A	uc002sjw.3	+	5	673	c.551G>A	c.(550-552)cGt>cAt	p.R184H	ACTG2_uc010yrn.2_Missense_Mutation_p.R141H|ACTG2_uc010fey.3_Missense_Mutation_p.R184H	NM_001615	NP_001606	P63267	ACTH_HUMAN	Homo sapiens actin, gamma 2, smooth muscle, enteric (ACTG2), transcript variant 1, mRNA.	184					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						TTGGCTGGCCGTGACCTCACG	0.552													A	74140711	G	A	74140711	3	1	268	1	0	0	0	0	1	0	0	0	197	1145	40	1	569	1	ACTG2	2	74140711	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	63952249	74140711	169058662	9	18765											
VIL1	7429	broad.mit.edu	37	chr2	219301877	219301877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggattgggaaacatgccaacGaggaggagaagaaggccgca	15	3	16	7	2	0	2	0	0	0	2	0	7	0	5	2	5	3	1	2	5	4	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr2:219301877G>A	uc002vib.3	+	15	2024	c.2002G>A	c.(2002-2004)Gag>Aag	p.E668K	VIL1_uc010zke.2_Missense_Mutation_p.E357K|VIL1_uc002via.3_Missense_Mutation_p.E668K	NM_007127	NP_009058	P09327	VILI_HUMAN	Homo sapiens villin 1 (VIL1), mRNA.	668	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACATGCCAACGAGGAGGAGAA	0.577													A	219301877	G	A	219301877	3	1	268	1	0	0	0	0	1	0	0	0	17266	1059	37	1	2064	1	VIL1	2	219301877	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	145161166	219301877	23897496	10	18766											
RPL14	9045	broad.mit.edu	37	chr3	40499407	40499407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcgcttcgtggaggttggCcgggtggcctatgtctcctt	3	12	16	10	3	1	0	0	0	1	0	3	1	1	1	3	6	0	2	3	6	1	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:40499407C>T	uc003ckg.3	+	1	81	c.30C>T	c.(28-30)ggC>ggT	p.G10G	RPL14_uc003ckh.3_Silent_p.G10G	NM_003973	NP_003964	P50914	RL14_HUMAN	Homo sapiens ribosomal protein L14 (RPL14), transcript variant 2, mRNA.	10					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome								KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGGAGGTTGGCCGGGTGGCCT	0.443													T	40499407	C	T	40499407	2	4	268	1	0	0	0	0	0	0	0	1	13652	726	26	2		2	RPL14	3	40499407	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		40499407	157523023	11	18767											
CDCP1	64866	broad.mit.edu	37	chr3	45127459	45127459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atacacatgggagtcattgtCctttcgccctttctgaaact	9	14	7	11	1	2	1	1	1	1	0	4	2	3	2	2	1	2	0	2	1	2	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:45127459C>T	uc003com.3	-	8	2317	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N		NM_022842	NP_073753	Q9H5V8	CDCP1_HUMAN	Homo sapiens CUB domain containing protein 1 (CDCP1), transcript variant 1, mRNA.	728						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GAGTCATTGTCCTTTCGCCCT	0.502													T	45127459	C	T	45127459	3	4	268	1	0	0	0	0	1	0	0	0	3123	855	30	2	332	2	CDCP1	3	45127459	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	4628052	45127459	152894971	12	18768											
SLC15A2	6565	broad.mit.edu	37	chr3	121641692	121641692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcactggctagactgggCggctgagaaatatccagtaa	13	7	12	9	1	0	2	0	1	0	2	1	3	1	2	1	3	1	4	1	3	4	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121641692C>T	uc003eep.2	+	8	1004	c.851C>T	c.(850-852)gCg>gTg	p.A284V	SLC15A2_uc011bjn.1_Missense_Mutation_p.A253V	NM_021082	NP_066568	Q16348	S15A2_HUMAN	Homo sapiens solute carrier family 15 (H+/peptide transporter), member 2 (SLC15A2), transcript variant 1, mRNA.	284					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	CTAGACTGGGCGGCTGAGAAA	0.433													T	121641692	C	T	121641692	3	4	268	1	0	0	0	0	1	0	0	0	14493	768	27	1	885	1	SLC15A2	3	121641692	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	76514233	121641692	76380738	13	18769											
ILDR1	286676	broad.mit.edu	37	chr3	121712145	121712145	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggctgcctctccttgTcctcttcagagctccaggaa	5	12	10	14	0	4	1	1	0	3	1	7	2	6	2	4	3	2	2	4	3	1	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:121712145T>G	uc003ees.3	-	6	1654	c.1451A>C	c.(1450-1452)gAc>gCc	p.D484A	ILDR1_uc003eeq.3_Missense_Mutation_p.D452A|ILDR1_uc003eer.3_Missense_Mutation_p.D440A|ILDR1_uc010hrg.3_Missense_Mutation_p.D395A	NM_001199799	NP_001186728	Q86SU0	ILDR1_HUMAN	Homo sapiens immunoglobulin-like domain containing receptor 1 (ILDR1), transcript variant 1, mRNA.	484						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		CCTCTCCTTGTCCTCTTCAGA	0.677													G	121712145	T	G	121712145	3	3	268	1	0	0	0	0	1	0	0	0	7767	1667	58	5	197	5	ILDR1	3	121712145	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	70453	121712145	76310285	14	18770											
PIK3CA	5290	broad.mit.edu	37	chr3	178938803	178938803	+	Frame_Shift_Del	DEL	A	A	-																															gcacaataaaacagttagccAgaggtttggcctgcttttgg																										TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr3:178938803delA	uc003fjk.3	+	13	2202	c.2045delA	c.(2044-2046)cagfs	p.Q682fs		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	682	PI3K helical.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACAGTTAGCCAGAGGTTTGGC	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178938803	A	-	178938803	7	5	268	1	0	1	0	1	0	0	0	0	11990	188	7	0	2095	0	PIK3CA	3	178938803	Frame_Shift_Del	DEL	A	TCGA-76-6193-01A-11D-1696-08	57226658	178938803	19083627	15	18771											
N4BP2	55728	broad.mit.edu	37	chr4	40127847	40127847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgaagactttaacagcatCtgaaatgctacctttattgg	13	13	7	8	0	1	3	0	2	1	1	1	3	1	3	1	1	4	2	1	1	5	6			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:40127847C>T	uc003guy.4	+	11	4762	c.4424C>T	c.(4423-4425)tCt>tTt	p.S1475F	N4BP2_uc010ifq.3_Missense_Mutation_p.S1395F|N4BP2_uc010ifr.3_Missense_Mutation_p.S1395F	NM_018177	NP_060647	Q86UW6	N4BP2_HUMAN	Homo sapiens NEDD4 binding protein 2 (N4BP2), mRNA.	1475						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TTAACAGCATCTGAAATGCTA	0.338													T	40127847	C	T	40127847	3	4	268	1	0	0	0	0	1	0	0	0	10186	913	32	2	4462	2	N4BP2	4	40127847	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		40127847	151026429	16	18772											
NAA11	84779	broad.mit.edu	37	chr4	80246554	80246554	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcaggtccatttgtcGtctcagctcatctgccatct	5	16	6	14	1	6	0	3	0	4	0	9	0	7	0	2	1	2	1	2	1	0	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:80246554G>A	uc003hlt.4	-	0	618	c.478C>T	c.(478-480)Cga>Tga	p.R160*	NAA11_uc021xpl.1_Nonsense_Mutation_p.R160*	NM_032693	NP_116082	Q9BSU3	NAA11_HUMAN	Homo sapiens N(alpha)-acetyltransferase 11, NatA catalytic subunit (NAA11), mRNA.	160						cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding	p.R159K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCATTTGTCGTCTCAGCTCA	0.517													A	80246554	G	A	80246554	4	1	268	1	0	0	0	0	0	1	0	0	10193	1153	40	1	215	1	NAA11	4	80246554	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	40118707	80246554	110907722	17	18773											
ANKRD50	57182	broad.mit.edu	37	chr4	125591834	125591834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctagcaccttgttcaatAagtgcttcacatatcaatct	11	15	5	10	0	5	0	3	0	2	0	5	0	5	0	1	0	2	4	1	0	5	7			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:125591834A>G	uc010inw.3	-	3	3636	c.2598T>C	c.(2596-2598)ctT>ctC	p.L866L	ANKRD50_uc011cgo.2_Silent_p.L687L	NM_020337	NP_001161354	Q9ULJ7	ANR50_HUMAN	Homo sapiens ankyrin repeat domain 50 (ANKRD50), transcript variant 1, mRNA.	866										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						CTTGTTCAATAAGTGCTTCAC	0.393													G	125591834	A	G	125591834	2	3	268	1	0	0	0	0	0	0	0	1	677	349	13	3		3	ANKRD50	4	125591834	Silent	SNP	A	TCGA-76-6193-01A-11D-1696-08	45345280	125591834	65562442	18	18774											
NEIL3	55247	broad.mit.edu	37	chr4	178274739	178274739	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagaagacaacaaacgaTataactcaaccatccagcaa	20	5	4	12	1	1	2	1	0	0	2	3	3	3	2	3	0	5	1	3	0	8	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr4:178274739T>G	uc003iut.2	+	7	1434	c.1317T>G	c.(1315-1317)gaT>gaG	p.D439E	NEIL3_uc010irs.3_3'UTR	NM_018248	NP_060718	Q8TAT5	NEIL3_HUMAN	Homo sapiens nei endonuclease VIII-like 3 (E. coli) (NEIL3), mRNA.	439					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CAACAAACGATATAACTCAAC	0.373								Base excision repair (BER), DNA glycosylases					G	178274739	T	G	178274739	3	3	268	1	0	0	0	0	1	0	0	0	10396	1403	49	5	1347	5	NEIL3	4	178274739	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	52682905	178274739	12879537	19	18775											
ATG12	9140	broad.mit.edu	37	chr5	115177234	115177234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctgcaacacagactGcggctcctccgccatcttgc	9	7	10	15	2	1	1	0	0	1	1	3	2	3	2	3	2	5	3	3	2	2	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:115177234G>A	uc003krh.3	-	0	315	c.16C>T	c.(16-18)Cag>Tag	p.Q6*	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Non-coding_Transcript|ATG12_uc021ycs.1_Non-coding_Transcript|ATG12_uc003kri.3_Nonsense_Mutation_p.Q53*	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	6					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AACACAGACTGCGGCTCCTCC	0.607													A	115177234	G	A	115177234	4	1	268	1	0	0	0	0	0	1	0	0	1095	1328	46	2	422	2	ATG12	5	115177234	Nonsense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		115177234	65738026	20	18776											
PCDHB10	56126	broad.mit.edu	37	chr5	140573541	140573541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgccctgcacatcggcagCgtcagcgccacagacagaga	10	3	11	17	4	1	2	1	0	0	2	2	3	1	2	3	1	3	2	3	1	0	0	rs17844565	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr5:140573541C>T	uc003lix.3	+	0	1590	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_018930	NP_061753	Q9UN67	PCDBA_HUMAN	Homo sapiens protocadherin beta 10 (PCDHB10), mRNA.	472	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	p.S472S(2)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATCGGCAGCGTCAGCGCCA	0.662													T	140573541	C	T	140573541	2	4	268	1	0	0	0	0	0	0	0	1	11611	767	27	1		1	PCDHB10	5	140573541	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	25396307	140573541	40341719	21	18777											
ZUFSP	221302	broad.mit.edu	37	chr6	116987896	116987896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacagaatggacattcagGaggactgtatgttgtttcat	11	13	10	7	0	2	1	2	0	0	1	3	4	3	4	1	3	0	3	1	3	2	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:116987896G>T	uc003pxf.2	-	1	720	c.460C>A	c.(460-462)Cct>Act	p.P154T	ZUFSP_uc010kef.2_Intron	NM_145062	NP_659499	Q96AP4	ZUFSP_HUMAN	Homo sapiens zinc finger with UFM1-specific peptidase domain (ZUFSP), mRNA.	154						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		GGACATTCAGGAGGACTGTAT	0.378													T	116987896	G	T	116987896	3	4	268	1	0	0	0	0	1	0	0	0	18343	1174	41	4	1312	4	ZUFSP	6	116987896	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		116987896	54127171	22	18778											
LAMA2	3908	broad.mit.edu	37	chr6	129573419	129573419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctacaaatcacatacagctTtgggatggatgccatcttca	12	11	7	11	0	3	0	2	0	1	0	3	2	3	2	2	2	4	1	2	2	3	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr6:129573419T>C	uc021zfb.1	+	13	2180	c.2075T>C	c.(2074-2076)tTt>tCt	p.F692S	LAMA2_uc003qbn.3_Missense_Mutation_p.F692S|LAMA2_uc003qbo.3_Missense_Mutation_p.F692S	NM_000426	NP_000417	P24043	LAMA2_HUMAN	Homo sapiens laminin, alpha 2 (LAMA2), transcript variant 1, mRNA.	692	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ACATACAGCTTTGGGATGGAT	0.453													C	129573419	T	C	129573419	3	2	268	1	0	0	0	0	1	0	0	0	8665	1841	64	3	2129	3	LAMA2	6	129573419	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	12585523	129573419	41541648	23	18779											
PLXNA4	91584	broad.mit.edu	37	chr7	131982916	131982916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccatatcccggaggactggGccggggtccaccacctgcac	7	5	13	16	2	0	0	0	0	0	0	2	2	2	2	6	5	1	1	6	5	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr7:131982916G>T	uc003vra.4	-	3	1666	c.1437C>A	c.(1435-1437)ggC>ggA	p.G479G		NM_020911	NP_065962	Q9HCM2	PLXA4_HUMAN	Homo sapiens plexin A4 (PLXNA4), transcript variant 1, mRNA.	479	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GGAGGACTGGGCCGGGGTCCA	0.582													T	131982916	G	T	131982916	2	4	268	1	0	0	0	0	0	0	0	1	12199	1190	42	4		4	PLXNA4	7	131982916	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		131982916	27155747	24	18780											
DLGAP2	9228	broad.mit.edu	37	chr8	1574988	1574988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacaactccccgaaattcCgctcccggaaccagagctac	12	6	6	17	3	0	1	0	0	0	1	3	3	3	2	5	1	5	2	5	1	5	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr8:1574988C>T	uc003wpl.3	+	3	1382	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C	DLGAP2_uc003wpm.3_Missense_Mutation_p.R429C	NM_004745	NP_004736	Q9P1A6	DLGP2_HUMAN	Homo sapiens discs, large (Drosophila) homolog-associated protein 2 (DLGAP2), mRNA.	508					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		CCCGAAATTCCGCTCCCGGAA	0.617													T	1574988	C	T	1574988	3	4	268	1	0	0	0	0	1	0	0	0	4599	652	23	1	1295	1	DLGAP2	8	1574988	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		1574988	144789034	25	18781											
MPDZ	8777	broad.mit.edu	37	chr9	13162794	13162794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggcacataagtaatTctggaacaaaccagaatcca	16	8	7	10	0	2	1	0	0	2	1	3	2	3	2	2	2	3	3	2	2	5	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr9:13162794T>C	uc010mia.1	-	22	3312	c.3255_splice	c.e22-1	p.K1085_splice	MPDZ_uc010mhx.3_Splice_Site|MPDZ_uc011lmm.2_Splice_Site|MPDZ_uc003zkz.4_Intron|MPDZ_uc010mhz.3_Splice_Site_p.K1085_splice|MPDZ_uc011lmn.2_Splice_Site_p.K1085_splice|MPDZ_uc010mhy.3_Splice_Site_p.K1085_splice|MPDZ_uc003zlb.4_Splice_Site_p.K1085_splice	NM_003829	NP_003820	O75970	MPDZ_HUMAN	Homo sapiens multiple PDZ domain protein (MPDZ), mRNA.	1085	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CATAAGTAATTCTGGAACAAA	0.348													C	13162794	T	C	13162794	2	2	268	1	0	0	0	0	0	0	0	1	9798	1797	62	3		3	MPDZ	9	13162794	Silent	SNP	T	TCGA-76-6193-01A-11D-1696-08		13162794	128050637	26	18782											
ITGA8	8516	broad.mit.edu	37	chr10	15590502	15590502	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgactttcaggactgcGctttctcctccttcgagtcg	5	13	9	14	3	2	1	1	1	1	0	6	4	3	2	3	1	1	1	3	1	0	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:15590502G>A	uc001ioc.1	-	26	2832	c.2832C>T	c.(2830-2832)agC>agT	p.S944S	ITGA8_uc010qcb.1_Silent_p.S929S	NM_003638	NP_003629	P53708	ITA8_HUMAN	Homo sapiens integrin, alpha 8 (ITGA8), mRNA.	944					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TCAGGACTGCGCTTTCTCCTC	0.483													A	15590502	G	A	15590502	2	1	268	1	0	0	0	0	0	0	0	1	7940	1078	38	1		1	ITGA8	10	15590502	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		15590502	119944245	27	18783											
PLCE1	51196	broad.mit.edu	37	chr10	95791394	95791394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaagttgacagaagaatGtcagacactttctgtaccct	13	12	8	8	0	2	5	1	2	1	3	2	5	2	5	1	0	1	2	1	0	5	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:95791394G>A	uc001kjk.3	+	1	1225	c.591G>A	c.(589-591)atG>atA	p.M197I	PLCE1_uc010qnx.2_Missense_Mutation_p.M197I	NM_016341	NP_057425	Q9P212	PLCE1_HUMAN	Homo sapiens phospholipase C, epsilon 1 (PLCE1), transcript variant 1, mRNA.	197					activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ACAGAAGAATGTCAGACACTT	0.408													A	95791394	G	A	95791394	3	1	268	1	0	0	0	0	1	0	0	0	12111	1377	48	2	593	2	PLCE1	10	95791394	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	80200892	95791394	39743353	28	18784											
KIAA1598	57698	broad.mit.edu	37	chr10	118689505	118689505	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctagttgctcttctaaTtctttgacctataagttatt	8	22	4	7	0	4	1	0	1	4	0	4	1	4	1	1	0	1	3	1	0	5	12	rs145640256		TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr10:118689505T>A	uc021pzk.1	-	9	1365	c.867A>T	c.(865-867)gaA>gaT	p.E289D	KIAA1598_uc009xyw.3_Missense_Mutation_p.E289D|KIAA1598_uc001lcz.4_Missense_Mutation_p.E289D|KIAA1598_uc010qso.2_Missense_Mutation_p.E229D|KIAA1598_uc010qsp.1_Missense_Mutation_p.E289D|KIAA1598_uc010qsq.1_Missense_Mutation_p.E229D|KIAA1598_uc001lcy.4_Missense_Mutation_p.E259D	NM_018330	NP_060800	A0MZ66	SHOT1_HUMAN	Homo sapiens KIAA1598 (KIAA1598), transcript variant 2, mRNA.	289					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCTCTTCTAATTCTTTGACCT	0.308													A	118689505	T	A	118689505	3	1	268	1	0	0	0	0	1	0	0	0	8304	1490	52	5	1060	5	KIAA1598	10	118689505	Missense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08	22898111	118689505	16845242	29	18785											
OR5D16	390144	broad.mit.edu	37	chr11	55606593	55606593	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttgcggtgatggcctaTgaccactttgtggccatttg	6	15	11	9	1	0	2	0	2	0	0	0	2	0	2	3	3	1	0	3	3	2	5			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr11:55606593T>A	uc010rio.2	+	0	366	c.366T>A	c.(364-366)taT>taA	p.Y122*		NM_001005496	NP_001005496	Q8NGK9	OR5DG_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 16 (OR5D16), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				TGATGGCCTATGACCACTTTG	0.433													A	55606593	T	A	55606593	4	1	268	1	0	0	0	0	0	1	0	0	11232	1471	51	5	368	5	OR5D16	11	55606593	Nonsense_Mutation	SNP	T	TCGA-76-6193-01A-11D-1696-08		55606593	79399923	30	18786											
LRRIQ1	84125	broad.mit.edu	37	chr12	85466877	85466877	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccacttatactggaattGtaagttgtgtttatttttta	9	20	6	6	0	0	0	0	0	0	0	1	1	1	1	1	1	1	3	1	1	6	10			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:85466877G>T	uc001tac.3	+	11	2998	c.2887_splice	c.e11+1	p.C963_splice	LRRIQ1_uc021rbo.1_Splice_Site_p.C841_splice	NM_001079910	NP_001073379	Q96JM4	LRIQ1_HUMAN	Homo sapiens leucine-rich repeats and IQ motif containing 1 (LRRIQ1), mRNA.	963										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACTGGAATTGTAAGttgtgt	0.358													T	85466877	G	T	85466877	5	4	268	1	0	0	0	0	0	0	1	0	9099	1391	48	4	2926	4	LRRIQ1	12	85466877	Splice_Site	SNP	G	TCGA-76-6193-01A-11D-1696-08		85466877	48385018	31	18787											
NOS1	4842	broad.mit.edu	37	chr12	117723943	117723943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggatcctgcccacacagCgcgaggcattccgccaggcg	8	5	12	16	4	0	0	0	0	0	0	2	2	2	1	4	3	2	1	4	3	0	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:117723943C>T	uc001twn.2	-	5	1967	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NOS1_uc021ren.1_Missense_Mutation_p.R83H|NOS1_uc021reo.1_Missense_Mutation_p.R83H|NOS1_uc001twm.2_Missense_Mutation_p.R419H	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	419					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCACACAGCGCGAGGCATT	0.557													T	117723943	C	T	117723943	3	4	268	1	0	0	0	0	1	0	0	0	10617	768	27	1	3144	1	NOS1	12	117723943	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	32257066	117723943	16127952	32	18788											
ACADS	35	broad.mit.edu	37	chr12	121164991	121164991	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcttcccagcggctcAggtgagagtgcaacctcagc	9	8	10	14	1	3	1	2	1	1	1	5	2	4	1	2	2	4	2	2	2	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr12:121164991A>G	uc001tza.4	+	2	328	c.210_splice	c.e2+1	p.Q70_splice	ACADS_uc010szl.1_Splice_Site_p.Q70_splice	NM_000017	NP_000008	P16219	ACADS_HUMAN	Homo sapiens acyl-CoA dehydrogenase, C-2 to C-3 short chain (ACADS), nuclear gene encoding mitochondrial protein, mRNA.	70						mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CCAGCGGCTCAGGTGAGAGTG	0.567													G	121164991	A	G	121164991	3	3	268	1	0	0	0	0	1	0	0	0	114	202	7	3	215	3	ACADS	12	121164991	Missense_Mutation	SNP	A	TCGA-76-6193-01A-11D-1696-08	3441048	121164991	12686904	33	18789											
RB1	5925	broad.mit.edu	37	chr13	49039379	49039379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atacctcacattcctcgaagCccttacaagtttcctagttc	10	13	4	14	1	1	0	1	0	0	0	5	1	3	0	4	0	3	2	4	0	5	6			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr13:49039379C>T	uc001vcb.3	+	22	2530	c.2364C>T	c.(2362-2364)agC>agT	p.S788S		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	788	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.R787*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTCGAAGCCCTTACAAGT	0.403		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			T	49039379	C	T	49039379	2	4	268	1	0	0	0	0	0	0	0	1	13186	738	26	2		2	RB1	13	49039379	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08		49039379	66130499	34	18790											
PYGO1	26108	broad.mit.edu	37	chr15	55838924	55838927	+	Frame_Shift_Del	DEL	TGAC	TGAC	-																															tagcattctgtggaggaattTgactgaaattttcagcagga																										TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr15:55838924_55838927delTGAC	uc002adf.1	-	2	554_557	c.554_557delGTCA	c.(553-558)agtcaafs	p.S185fs	PYGO1_uc010bfl.1_Frame_Shift_Del_p.S185fs	NM_015617	NP_056432	Q9Y3Y4	PYGO1_HUMAN	Homo sapiens pygopus homolog 1 (Drosophila) (PYGO1), mRNA.	185	Asn-rich.				Wnt receptor signaling pathway	nucleus	zinc ion binding			endometrium(4)|kidney(2)|large_intestine(6)|lung(6)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	27				all cancers(107;0.0131)|GBM - Glioblastoma multiforme(80;0.18)		TGGAGGAATTTGACTGAAATTTTC	0.333													-	55838927	TGAC	-	55838924	7	5	268	1	0	1	0	1	0	0	0	0	12951	1812	63	0	706	0	PYGO1	15	55838924	Frame_Shift_Del	DEL	TGAC	TCGA-76-6193-01A-11D-1696-08		55838924	46692468	35	18791											
MAPK3	5595	broad.mit.edu	37	chr16	30128054	30128054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgagctccttcagccGctccttaggtaggtcatcca	9	10	10	12	1	2	2	2	1	0	1	5	3	5	2	4	2	2	3	4	2	3	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:30128054G>A	uc002dws.3	-	7	1175	c.1075C>T	c.(1075-1077)Cgg>Tgg	p.R359W	BOLA2_uc010bzb.1_Intron|MAPK3_uc002dwr.3_Missense_Mutation_p.R245W|MAPK3_uc002dwv.4_Missense_Mutation_p.R315W|MAPK3_uc002dwt.3_3'UTR	NM_002746	NP_002737	P27361	MK03_HUMAN	Homo sapiens mitogen-activated protein kinase 3 (MAPK3), transcript variant 1, mRNA.	359					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding	p.R359W(1)								Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TCCTTCAGCCGCTCCTTAGGT	0.642													A	30128054	G	A	30128054	3	1	268	1	0	0	0	0	1	0	0	0	9354	1086	38	1	68	1	MAPK3	16	30128054	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		30128054	60226699	36	18792											
SLC12A3	6559	broad.mit.edu	37	chr16	56913524	56913524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggggccaccctctcctctgCcctggcctgccttgtctctg	1	11	10	19	1	3	0	0	0	3	0	5	0	3	0	6	3	2	0	6	3	0	1	rs139743444	byFrequency	TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr16:56913524C>T	uc002ekd.4	+	10	1435	c.1406C>T	c.(1405-1407)gCc>gTc	p.A469V	SLC12A3_uc010ccm.3_Missense_Mutation_p.A469V|SLC12A3_uc010ccn.3_Missense_Mutation_p.A468V	NM_000339	NP_000330	P55017	S12A3_HUMAN	Homo sapiens solute carrier family 12 (sodium/chloride transporters), member 3 (SLC12A3), transcript variant 1, mRNA.	469					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CTCTCCTCTGCCCTGGCCTGC	0.632													T	56913524	C	T	56913524	3	4	268	1	0	0	0	0	1	0	0	0	14478	739	26	2	1448	2	SLC12A3	16	56913524	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	26785470	56913524	33441229	37	18793											
C17orf85	55421	broad.mit.edu	37	chr17	3721586	3721586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaactgagattccacttcGtcagcatacatagtcatttt	11	15	5	10	1	3	1	3	1	0	1	5	2	4	1	1	0	3	1	1	0	3	7			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:3721586G>A	uc010ckl.1	-	9	1304	c.1281C>T	c.(1279-1281)gaC>gaT	p.D427D	C17orf85_uc002fwr.2_Silent_p.D137D|C17orf85_uc002fwq.2_Silent_p.D147D	NM_001114118	NP_061023	Q53F19	CQ085_HUMAN	Homo sapiens chromosome 17 open reading frame 85 (C17orf85), mRNA.	427							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		ATTCCACTTCGTCAGCATACA	0.328													A	3721586	G	A	3721586	2	1	268	1	0	0	0	0	0	0	0	1	1905	1136	40	1		1	C17orf85	17	3721586	Silent	SNP	G	TCGA-76-6193-01A-11D-1696-08		3721586	77473624	38	18794											
TP53	7157	broad.mit.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	8	8	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7577551C>T	uc002gim.2	-	6	924	c.730G>A	c.(730-732)Ggc>Agc	p.G244S	TP53_uc002gig.1_Missense_Mutation_p.G244S|TP53_uc002gih.3_Missense_Mutation_p.G244S|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.G112S|TP53_uc010cnf.1_Missense_Mutation_p.G112S|TP53_uc002gii.1_Missense_Mutation_p.G112S|TP53_uc010cni.1_Missense_Mutation_p.G244S|TP53_uc010cnh.1_Missense_Mutation_p.G244S|TP53_uc002gij.2_Missense_Mutation_p.G244S|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.G151S|TP53_uc002gio.2_Missense_Mutation_p.G112S|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244C(82)|p.G244S(75)|p.G244D(42)|p.G244V(14)|p.G244G(13)|p.M243L(10)|p.G244R(10)|p.G244fs*3(9)|p.G244A(9)|p.0?(8)|p.M243I(7)|p.M243T(5)|p.?(5)|p.G151C(4)|p.G244fs*4(4)|p.M243V(3)|p.G244fs*19(2)|p.G244fs*17(2)|p.C242_M246>L(2)|p.C238_M246delCNSSCMGGM(2)|p.M243K(2)|p.M243R(2)|p.G244del(2)|p.M243fs*18(2)|p.M243_G244>IC(2)|p.S241_G245delSCMGG(2)|p.G244_M246del(1)|p.Y236_M243delYMCNSSCM(1)|p.G151R(1)|p.G151S(1)|p.G151fs*4(1)|p.G244_M246>V(1)|p.M243fs*4(1)|p.C242fs*98(1)|p.G244E(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)		TTCATGCCGCCCATGCAGGAA	0.582		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)			T	7577551	C	T	7577551	3	4	268	1	0	0	0	0	1	0	0	0	16482	623	22	2	560	2	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	3855965	7577551	73617659	39	18795											
TP53	7157	broad.mit.edu	37	chr17	7578464	7578464	+	Missense_Mutation	SNP	G	G	A																															gatggccatggcgcggacgcGggtgccgggcgggggtgtgg																										TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578464G>A	uc002gim.2	-	4	660	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TP53_uc002gig.1_Missense_Mutation_p.R156C|TP53_uc002gih.3_Missense_Mutation_p.R156C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R24C|TP53_uc010cnf.1_Missense_Mutation_p.R24C|TP53_uc002gii.1_Missense_Mutation_p.R24C|TP53_uc010cni.1_Missense_Mutation_p.R156C|TP53_uc010cnh.1_Missense_Mutation_p.R156C|TP53_uc002gij.2_Missense_Mutation_p.R156C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R63C|TP53_uc002gio.2_Missense_Mutation_p.R24C|TP53_uc010vug.2_Missense_Mutation_p.R117C	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156fs*14(20)|p.T155N(20)|p.T155P(16)|p.T155I(12)|p.R156H(10)|p.0?(8)|p.T155A(8)|p.R156S(6)|p.R156G(6)|p.?(5)|p.R156fs*25(5)|p.T155T(5)|p.R156_I162delRVRAMAI(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.R156C(4)|p.R156R(3)|p.R156L(3)|p.T155_R156delTR(2)|p.R156_A161delRVRAMA(2)|p.P151_V173del23(2)|p.R156del(2)|p.G154fs*14(2)|p.R156_R158delRVR(2)|p.R156fs*12(2)|p.R156fs*18(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.R156_V157del(2)|p.T155_A161delTRVRAMA(2)|p.G154_R156delGTR(2)|p.T155S(2)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.R156fs*?(1)|p.G154fs*22(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*20(1)|p.R156_V157insV(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)		GCGCGGACGCGGGTGCCGGGC	0.612		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)			A	7578464	G	A	7578464	3	1	268	1	0	0	0	0	1	0	0	0	16482	1116	39	1	832	1	TP53	17	7578464	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	913	7578464	73616746	40	18796	25	2									
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T																															tggccatggcgcggacgcggGtgccgggcgggggtgtggaa																										TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7578466G>T	uc002gim.2	-	4	658	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_uc002gig.1_Missense_Mutation_p.T155N|TP53_uc002gih.3_Missense_Mutation_p.T155N|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.T23N|TP53_uc010cnf.1_Missense_Mutation_p.T23N|TP53_uc002gii.1_Missense_Mutation_p.T23N|TP53_uc010cni.1_Missense_Mutation_p.T155N|TP53_uc010cnh.1_Missense_Mutation_p.T155N|TP53_uc002gij.2_Missense_Mutation_p.T155N|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.T62N|TP53_uc002gio.2_Missense_Mutation_p.T23N|TP53_uc010vug.2_Missense_Mutation_p.T116N	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155N(42)|p.G154V(41)|p.T155I(26)|p.T155P(16)|p.G154G(12)|p.G154S(9)|p.T155A(8)|p.0?(8)|p.G154D(6)|p.?(5)|p.T155T(5)|p.G154fs*14(4)|p.T155fs*23(4)|p.P152fs*14(4)|p.G154I(3)|p.G154fs*27(3)|p.T155S(3)|p.P151_V173del23(2)|p.G154fs*16(2)|p.G154_R156delGTR(2)|p.G154C(2)|p.T155fs*25(2)|p.D148_T155delDSTPPPGT(2)|p.P153fs*22(2)|p.T155_A161delTRVRAMA(2)|p.G154fs*22(2)|p.T155_R156delTR(2)|p.T155fs*26(1)|p.R156_A161del(1)|p.G154A(1)|p.D148fs*23(1)|p.Q144_G154del11(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_R156insDSTPPPGT(1)|p.T155fs*15(1)|p.R156fs*25(1)|p.P153_G154insX(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			T	7578466	G	T	7578466	3	4	268	1	0	0	0	0	1	0	0	0	16482	1261	44	4	834	4	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	2	7578466	73616744	41	18797	25	2									
ALOX15B	247	broad.mit.edu	37	chr17	7942479	7942479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaggctggcagcatggcCgagttcagggtcagggtgtc	7	9	16	9	1	2	0	2	0	0	0	3	1	2	0	1	5	1	4	1	5	1	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:7942479C>T	uc002gju.3	+	0	122	c.6C>T	c.(4-6)gcC>gcT	p.A2A	ALOX15B_uc002gjv.3_Silent_p.A2A|ALOX15B_uc002gjw.3_Silent_p.A2A|ALOX15B_uc010vun.2_Silent_p.A2A|ALOX15B_uc010cnp.3_5'UTR	NM_001141	NP_001132	O15296	LX15B_HUMAN	Homo sapiens arachidonate 15-lipoxygenase, type B (ALOX15B), transcript variant d, mRNA.	2	PLAT.				induction of apoptosis|leukotriene biosynthetic process|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of growth|prostate gland development|regulation of epithelial cell differentiation	cytoplasm	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	24						GCAGCATGGCCGAGTTCAGGG	0.652													T	7942479	C	T	7942479	2	4	268	1	0	0	0	0	0	0	0	1	539	639	23	1		1	ALOX15B	17	7942479	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	364013	7942479	73252731	42	18798											
UBC	7316	broad.mit.edu	37	chr17	21731124	21731124	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacatccagaaagagtcgacCctgcatctggtcctgcgtct	10	9	9	13	2	2	2	0	0	2	2	5	3	4	2	3	1	3	1	3	1	2	0			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:21731124C>A	uc002gyy.3	+	1	551	c.426C>A	c.(424-426)acC>acA	p.T142T				P0CG48	UBC_HUMAN	SubName: Full=Uncharacterized protein;	294	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		AAGAGTCGACCCTGCATCTGG	0.567													A	21731124	C	A	21731124	2	1	268	1	0	0	0	0	0	0	0	1	16944	638	22	4		4	UBC	17	21731124	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	13788645	21731124	59464086	43	18799											
BPTF	2186	broad.mit.edu	37	chr17	65924656	65924656	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagctacagtaacattccaAcaaaacaagaactttcatca	18	8	3	12	0	2	1	2	0	0	1	3	1	3	1	2	0	6	2	2	0	7	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr17:65924656A>G	uc002jgf.3	+	15	5998	c.5937A>G	c.(5935-5937)caA>caG	p.Q1979Q	BPTF_uc002jge.3_Silent_p.Q2105Q	NM_182641	NP_872579	Q12830	BPTF_HUMAN	Homo sapiens bromodomain PHD finger transcription factor (BPTF), transcript variant 1, mRNA.	2105					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TAACATTCCAACAAAACAAGA	0.393													G	65924656	A	G	65924656	2	3	268	1	0	0	0	0	0	0	0	1	1504	40	2	3		3	BPTF	17	65924656	Silent	SNP	A	TCGA-76-6193-01A-11D-1696-08	44193532	65924656	15270554	44	18800											
MUC16	94025	broad.mit.edu	37	chr19	9049260	9049260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccattgaggtcaccaaccGtgatacagcaggcgagatag	13	6	12	10	2	1	3	1	2	0	1	1	5	1	3	3	2	3	1	3	2	3	3			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:9049260G>A	uc002mkp.3	-	4	32575	c.32371C>T	c.(32371-32373)Cgg>Tgg	p.R10791W		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10793	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						GTCACCAACCGTGATACAGCA	0.483													A	9049260	G	A	9049260	3	1	268	1	0	0	0	0	1	0	0	0	10049	1144	40	1	11472	1	MUC16	19	9049260	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08		9049260	50079723	45	18801											
CASP14	23581	broad.mit.edu	37	chr19	15164396	15164396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggaacacatgtttcGgcagctgagattcgaaagca	11	10	11	9	2	1	1	0	1	1	1	3	4	1	2	0	2	4	5	0	2	2	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:15164396G>T	uc010dzv.2	+	2	343	c.131G>T	c.(130-132)cGg>cTg	p.R44L		NM_012114	NP_036246	P31944	CASPE_HUMAN	Homo sapiens caspase 14, apoptosis-related cysteine peptidase (CASP14), mRNA.	44					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity	p.R44Q(2)|p.R44W(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						CACATGTTTCGGCAGCTGAGA	0.527													T	15164396	G	T	15164396	3	4	268	1	0	0	0	0	1	0	0	0	2696	1116	39	4	137	4	CASP14	19	15164396	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	6115136	15164396	43964587	46	18802											
PPFIA3	8541	broad.mit.edu	37	chr19	49651354	49651354	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagatcctggcatatggCgacatgaaccacgagtgggt	10	7	12	12	2	0	2	0	1	0	1	1	4	1	2	4	3	1	1	4	3	2	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr19:49651354C>T	uc002pmr.3	+	23	3182	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	PPFIA3_uc010yai.2_Non-coding_Transcript|PPFIA3_uc002pms.3_Silent_p.G809G|PPFIA3_uc002pmt.3_Silent_p.G89G|PPFIA3_uc002pmu.1_5'UTR	NM_003660	NP_003651	O75145	LIPA3_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3 (PPFIA3), mRNA.	950						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		TGGCATATGGCGACATGAACC	0.617													T	49651354	C	T	49651354	2	4	268	1	0	0	0	0	0	0	0	1	12388	755	27	1		1	PPFIA3	19	49651354	Silent	SNP	C	TCGA-76-6193-01A-11D-1696-08	34486958	49651354	9477629	47	18803											
PDYN	5173	broad.mit.edu	37	chr20	1961151	1961151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcccatgctatcccCgtccccctccccagccacct	5	8	5	23	1	1	0	1	0	0	0	4	0	4	0	9	1	2	1	9	1	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:1961151C>T	uc010gaj.3	-	2	825	c.583G>A	c.(583-585)Ggg>Agg	p.G195R	AK090681_uc002wfu.1_Intron|PDYN_uc021vzs.1_Missense_Mutation_p.G195R|PDYN_uc021vzt.1_Missense_Mutation_p.G195R|PDYN_uc021vzu.1_Missense_Mutation_p.G195R|PDYN_uc002wfv.3_Missense_Mutation_p.G195R	NM_001190892	NP_077722	P01213	PDYN_HUMAN	Homo sapiens prodynorphin (PDYN), transcript variant 3, mRNA.	195					cell death|neuropeptide signaling pathway|synaptic transmission	extracellular region|plasma membrane	opioid peptide activity	p.D194E(1)		endometrium(3)|kidney(1)|large_intestine(5)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATGCTATCCCCGTCCCCCTCC	0.597													T	1961151	C	T	1961151	3	4	268	1	0	0	0	0	1	0	0	0	11775	652	23	1	185	1	PDYN	20	1961151	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		1961151	61064369	48	18804											
RALGAPA2	57186	broad.mit.edu	37	chr20	20493649	20493649	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactctcacatcagagagaGagcccactggtgatccccct	10	9	8	14	0	2	3	2	1	1	2	4	5	3	3	3	1	2	0	3	1	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:20493649G>C	uc002wrz.3	-	31	4507	c.4364C>G	c.(4363-4365)tCt>tGt	p.S1455C	RALGAPA2_uc002wry.3_Missense_Mutation_p.S1070C|RALGAPA2_uc010zsg.2_Missense_Mutation_p.S903C|RALGAPA2_uc002wsa.1_Missense_Mutation_p.S227C	NM_020343	NP_065076	Q2PPJ7	RGPA2_HUMAN	Homo sapiens Ral GTPase activating protein, alpha subunit 2 (catalytic) (RALGAPA2), mRNA.	1455					activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						ATCAGAGAGAGAGCCCACTGG	0.478													C	20493649	G	C	20493649	3	2	268	1	0	0	0	0	1	0	0	0	13102	942	33	4	1289	4	RALGAPA2	20	20493649	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	18532498	20493649	42531871	49	18805											
RALGAPB	57148	broad.mit.edu	37	chr20	37182634	37182634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgacccagttacggattGcaagcccccgcctcctgccc	6	8	8	19	2	0	1	0	1	0	0	2	2	2	2	7	1	4	2	7	1	2	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:37182634G>A	uc002xiw.3	+	21	3544	c.3287G>A	c.(3286-3288)tGc>tAc	p.C1096Y	RALGAPB_uc002xix.3_Missense_Mutation_p.C1092Y|RALGAPB_uc002xiy.1_Intron|RALGAPB_uc002xiz.3_Missense_Mutation_p.C874Y	NM_020336	NP_065069	Q86X10	RLGPB_HUMAN	Homo sapiens Ral GTPase activating protein, beta subunit (non-catalytic) (RALGAPB), mRNA.	1096					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTTACGGATTGCAAGCCCCCG	0.478													A	37182634	G	A	37182634	3	1	268	1	0	0	0	0	1	0	0	0	13103	1319	46	2	3369	2	RALGAPB	20	37182634	Missense_Mutation	SNP	G	TCGA-76-6193-01A-11D-1696-08	16688985	37182634	25842886	50	18806											
LAMA5	3911	broad.mit.edu	37	chr20	60911477	60911477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcggcccctccacgtgagCccggcacatacagggaacct	8	5	11	17	3	0	1	0	1	0	0	2	2	1	2	5	3	3	2	5	3	2	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr20:60911477C>T	uc002ycq.3	-	17	2309	c.2242G>A	c.(2242-2244)Gct>Act	p.A748T	LAMA5_uc021wfw.1_Missense_Mutation_p.A748T	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	748	Laminin EGF-like 9.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCACGTGAGCCCGGCACATA	0.642													T	60911477	C	T	60911477	3	4	268	1	0	0	0	0	1	0	0	0	8668	739	26	2	9097	2	LAMA5	20	60911477	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	23728843	60911477	2114043	51	18807											
APOBEC3F	200316	broad.mit.edu	37	chr22	39448100	39448100	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcctgagacccattgtCatgcagaaaggtgcttcctc	9	11	10	11	0	1	2	1	1	0	2	4	4	3	3	3	2	2	2	3	2	1	2			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chr22:39448100C>A	uc021wpr.1	+						APOBEC3F_uc003aww.3_Missense_Mutation_p.H249N	NM_021822	NP_068594	Q9HC16	ABC3G_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G (APOBEC3G), mRNA.						base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GACCCATTGTCATGCAGAAAG	0.572													A	39448100	C	A	39448100	3	1	268	1	0	0	0	0	1	0	0	0	796	826	29	4	906	4	APOBEC3F	22	39448100	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		39448100	11856466	52	18808											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685588	125685588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttctgctggtcctggCgcagatccaggaaagagacg	9	8	15	9	2	1	2	0	0	1	2	3	5	3	4	2	4	1	3	2	4	1	1			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:125685588C>T	uc022cds.1	-	0	1004	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	DCAF12L1_uc004eul.3_Missense_Mutation_p.R335H	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	335										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CTGGTCCTGGCGCAGATCCAG	0.597													T	125685588	C	T	125685588	3	4	268	1	0	0	0	0	1	0	0	0	4298	768	27	1	391	1	DCAF12L1	23	125685588	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08		125685588	29584972	53	18809											
VAMP7	6845	broad.mit.edu	37	chrX	155169439	155169439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcaagctcactattatCatcatcatcgtatcaattgt	13	14	3	11	1	6	0	6	0	0	0	7	0	6	0	1	0	2	2	1	0	6	4			TCGA-76-6193-01A-11D-1696-08	TCGA-76-6193-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a751d65-5fcf-4c03-8253-8f1b8faccab2	2c173733-933e-408a-b54b-ded5dffc589e	g.chrX:155169439C>G	uc004fnr.3	+	6	754	c.576C>G	c.(574-576)atC>atG	p.I192M	VAMP7_uc011naa.2_Missense_Mutation_p.I153M|VAMP7_uc011nab.2_Missense_Mutation_p.I91M|VAMP7_uc004fnt.3_Missense_Mutation_p.I151M|VAMP7_uc004fns.3_Missense_Mutation_p.H170D|VAMP7_uc011nac.2_Missense_Mutation_p.I125M	NM_005638	NP_005629	P51809	VAMP7_HUMAN	Homo sapiens vesicle-associated membrane protein 7 (VAMP7), transcript variant 1, mRNA.	192					calcium ion-dependent exocytosis|endosome to lysosome transport|eosinophil degranulation|ER to Golgi vesicle-mediated transport|neutrophil degranulation|phagocytosis, engulfment|post-Golgi vesicle-mediated transport|protein transport|vesicle fusion	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|phagocytic vesicle membrane|plasma membrane|SNARE complex|transport vesicle membrane	protein binding			large_intestine(1)|lung(8)	9	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCACTATTATCATCATCATCG	0.333													G	155169439	C	G	155169439	3	3	268	1	0	0	0	0	1	0	0	0	17219	826	29	4	598	4	VAMP7	23	155169439	Missense_Mutation	SNP	C	TCGA-76-6193-01A-11D-1696-08	29483851	155169439	101121	54	18810											
CYP4B1	1580	broad.mit.edu	37	chr1	47282802	47282802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtgccccaggtgtacCgccagctcagcaagcctgtc	7	7	10	17	1	1	0	1	0	0	0	2	0	1	0	6	1	5	3	6	1	2	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:47282802C>T	uc001cqn.4	+	8	1240	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	CYP4B1_uc001cqm.4_Missense_Mutation_p.R385C|CYP4B1_uc009vym.3_Missense_Mutation_p.R371C|CYP4B1_uc010omk.2_Missense_Mutation_p.R222C	NM_001099772	NP_001093242	P13584	CP4B1_HUMAN	Homo sapiens cytochrome P450, family 4, subfamily B, polypeptide 1 (CYP4B1), transcript variant 1, mRNA.	385					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CCAGGTGTACCGCCAGCTCAG	0.572													T	47282802	C	T	47282802	3	4	269	1	0	0	0	0	1	0	0	0	4218	652	23	1	1190	1	CYP4B1	1	47282802	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		47282802	201967819	1	18811											
PLXNA2	5362	broad.mit.edu	37	chr1	208269395	208269395	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggtgggcactgcagttgTaaaacttgaactcggtgctg	8	12	14	7	1	0	1	0	1	0	0	1	1	0	1	0	3	4	6	0	3	3	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr1:208269395T>G	uc001hgz.3	-	7	2719	c.1961A>C	c.(1960-1962)tAc>tCc	p.Y654S		NM_025179	NP_079455	O75051	PLXA2_HUMAN	Homo sapiens plexin A2 (PLXNA2), mRNA.	654					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		ACTGCAGTTGTAAAACTTGAA	0.478													G	208269395	T	G	208269395	3	3	269	1	0	0	0	0	1	0	0	0	12197	1638	57	5	3823	5	PLXNA2	1	208269395	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	160986593	208269395	40981226	2	18812											
POTEF	728378	broad.mit.edu	37	chr2	130878084	130878084	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaatcaacctcaaccAccatctgcttttaacagcca	13	9	5	14	0	3	0	2	0	1	0	3	1	3	1	4	1	5	2	4	1	4	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:130878084A>C	uc010fmh.2	-	2	405	c.5T>G	c.(4-6)gTg>gGg	p.V2G		NM_001099771	NP_001093241	A5A3E0	POTEF_HUMAN	Homo sapiens POTE ankyrin domain family, member F (POTEF), mRNA.	2						cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AACCTCAACCACCATCTGCTT	0.532													C	130878084	A	C	130878084	3	2	269	1	0	0	0	0	1	0	0	0	12342	159	6	5	3282	5	POTEF	2	130878084	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08		130878084	112321289	3	18813											
PRPF40A	55660	broad.mit.edu	37	chr2	153514467	153514467	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatctttgtctagttctgTctttttcactttcccgatct	4	21	5	11	1	6	1	1	1	5	0	7	2	7	1	1	0	0	1	1	0	1	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:153514467T>C	uc002tyh.4	-	24	2658	c.2636A>G	c.(2635-2637)gAc>gGc	p.D879G	PRPF40A_uc002tyg.4_Missense_Mutation_p.D335G|PRPF40A_uc010zcd.1_Missense_Mutation_p.D830G	NM_017892	NP_060362	O75400	PR40A_HUMAN	Homo sapiens PRP40 pre-mRNA processing factor 40 homolog A (S. cerevisiae) (PRPF40A), mRNA.	906					mRNA processing|RNA splicing	nuclear matrix|nuclear speck	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|urinary_tract(1)	21						TCTAGTTCTGTCTTTTTCACT	0.348													C	153514467	T	C	153514467	3	2	269	1	0	0	0	0	1	0	0	0	12657	1667	58	3	164	3	PRPF40A	2	153514467	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	22636383	153514467	89684906	4	18814											
CASP10	843	broad.mit.edu	37	chr2	202074219	202074219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctatgtatcctttcGgcatgtggaggaaggcagct	8	10	13	10	1	0	0	0	0	0	0	2	2	1	2	2	5	1	5	2	5	3	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr2:202074219G>A	uc002uxj.1	+	8	1767	c.1349G>A	c.(1348-1350)cGg>cAg	p.R450Q	CASP10_uc010ftb.2_3'UTR|CASP10_uc010fta.1_Missense_Mutation_p.R383Q|CASP10_uc002uxk.1_Missense_Mutation_p.R407Q|CASP10_uc002uxl.2_Missense_Mutation_p.R450Q|CASP10_uc002uxm.2_Missense_Mutation_p.R407Q	NM_032977	NP_116759	Q92851	CASPA_HUMAN	Homo sapiens caspase 10, apoptosis-related cysteine peptidase (CASP10), transcript variant 1, mRNA.	450					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						GTATCCTTTCGGCATGTGGAG	0.488													A	202074219	G	A	202074219	3	1	269	1	0	0	0	0	1	0	0	0	2695	1116	39	1	1379	1	CASP10	2	202074219	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	48559752	202074219	41125154	5	18815											
TRIM71	131405	broad.mit.edu	37	chr3	32859711	32859711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgtcggggggcggcggcGggggccctggggcggcggcg	0	3	26	12	9	0	0	0	0	0	0	2	0	0	0	1	11	0	0	1	11	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:32859711G>A	uc003cff.3	+	0	202	c.139G>A	c.(139-141)Ggg>Agg	p.G47R		NM_001039111	NP_001034200	Q2Q1W2	LIN41_HUMAN	Homo sapiens tripartite motif containing 71 (TRIM71), mRNA.	47					multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						gggcggcggcgggggccctgg	0.781													A	32859711	G	A	32859711	3	1	269	1	0	0	0	0	1	0	0	0	16645	1116	39	1	141	1	TRIM71	3	32859711	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		32859711	165162719	6	18816											
C3orf67	200844	broad.mit.edu	37	chr3	58870322	58870322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattttatttcagtttggcGaagtttagtcatgtttagca	10	18	9	4	1	2	0	2	0	0	0	2	2	2	0	0	1	1	4	0	1	5	8			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:58870322G>A	uc003dkt.1	-	6	698	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	AK090895_uc003dku.1_Intron|C3orf67_uc003dkv.1_5'UTR|C3orf67_uc003dkw.3_Missense_Mutation_p.R5C	NM_198463	NP_940865	Q6ZVT6	CC067_HUMAN	Homo sapiens chromosome 3 open reading frame 67 (C3orf67), mRNA.	97										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TCAGTTTGGCGAAGTTTAGTC	0.408													A	58870322	G	A	58870322	3	1	269	1	0	0	0	0	1	0	0	0	2262	1058	37	1	1442	1	C3orf67	3	58870322	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	26010611	58870322	139152108	7	18817											
ROBO2	6092	broad.mit.edu	37	chr3	77629222	77629222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtagaggttgcagctagtaCcagtgcaggggttggagtaa	10	9	17	5	0	0	1	0	0	0	1	0	2	0	2	1	5	4	8	1	5	4	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:77629222C>A	uc011bgk.2	+	16	3108	c.2465C>A	c.(2464-2466)aCc>aAc	p.T822N	ROBO2_uc021xat.1_Missense_Mutation_p.T834N|ROBO2_uc003dpy.4_Missense_Mutation_p.T818N|ROBO2_uc003dpz.3_Missense_Mutation_p.T822N|ROBO2_uc011bgj.2_Non-coding_Transcript	NM_002942	NP_002933	Q9HCK4	ROBO2_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 2 (Drosophila) (ROBO2), transcript variant 2, mRNA.	818	Fibronectin type-III 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCAGCTAGTACCAGTGCAGGG	0.453													A	77629222	C	A	77629222	3	1	269	1	0	0	0	0	1	0	0	0	13605	507	18	4	2517	4	ROBO2	3	77629222	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	18758900	77629222	120393208	8	18818											
OR5K4	403278	broad.mit.edu	37	chr3	98073062	98073062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgacaatggcctatgaccGctatgtggccatatgccacc	9	8	11	13	2	0	1	0	1	0	0	0	2	0	1	5	3	1	1	5	3	4	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:98073062G>A	uc011bgv.2	+	0	365	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_001005517	NP_001005517	A6NMS3	OR5K4_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily K, member 4 (OR5K4), mRNA.	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						GCCTATGACCGCTATGTGGCC	0.473													A	98073062	G	A	98073062	3	1	269	1	0	0	0	0	1	0	0	0	11245	1087	38	1	367	1	OR5K4	3	98073062	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	20443840	98073062	99949368	9	18819											
CCDC80	151887	broad.mit.edu	37	chr3	112356885	112356885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctacttacaaggagtcttCgtttgccttcaaaggacccc	9	11	9	12	1	2	0	1	0	1	0	3	2	2	2	3	3	3	2	3	3	4	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:112356885C>T	uc003dzf.3	-	1	2086	c.1868G>A	c.(1867-1869)cGa>cAa	p.R623Q	CCDC80_uc011bhv.2_Missense_Mutation_p.R623Q|CCDC80_uc003dzg.3_Missense_Mutation_p.R623Q|CCDC80_uc003dzh.1_Missense_Mutation_p.R623Q	NM_199512	NP_955806	Q76M96	CCD80_HUMAN	Homo sapiens coiled-coil domain containing 80 (CCDC80), transcript variant 2, mRNA.	623										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						AAGGAGTCTTCGTTTGCCTTC	0.463													T	112356885	C	T	112356885	3	4	269	1	0	0	0	0	1	0	0	0	2882	884	31	1	1012	1	CCDC80	3	112356885	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	14283823	112356885	85665545	10	18820											
PLXND1	23129	broad.mit.edu	37	chr3	129297231	129297231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagccacccgtaggcaCgggtgccaggggtgagagca	8	4	18	11	2	0	1	0	1	0	1	0	3	0	2	3	5	3	3	3	5	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:129297231C>T	uc003emx.2	-	8	2387	c.2287G>A	c.(2287-2289)Gtg>Atg	p.V763M		NM_015103	NP_055918	Q9Y4D7	PLXD1_HUMAN	Homo sapiens plexin D1 (PLXND1), mRNA.	763					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCCGTAGGCACGGGTGCCAGG	0.632													T	129297231	C	T	129297231	3	4	269	1	0	0	0	0	1	0	0	0	12204	536	19	1	3602	1	PLXND1	3	129297231	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	16940346	129297231	68725199	11	18821											
VPS8	23355	broad.mit.edu	37	chr3	184552450	184552450	+	Frame_Shift_Del	DEL	C	C	-																															ttttcaggaagaagaaattaCctgattctttttcacttcat																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr3:184552450delC	uc021xik.1	+	3	455	c.367delC	c.(367-369)cctfs	p.P123fs	VPS8_uc003fpb.1_Frame_Shift_Del_p.P123fs|VPS8_uc010hyd.1_Frame_Shift_Del_p.P123fs|VPS8_uc003fpc.1_Frame_Shift_Del_p.P123fs	NM_001009921	NP_001009921	Q8N3P4	VPS8_HUMAN	Homo sapiens vacuolar protein sorting 8 homolog (S. cerevisiae) (VPS8), transcript variant 1, mRNA.	123							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GAAGAAATTACCTGATTCTTT	0.343													-	184552450	C	-	184552450	7	5	269	1	0	1	0	1	0	0	0	0	17320	507	18	0	381	0	VPS8	3	184552450	Frame_Shift_Del	DEL	C	TCGA-76-6280-01A-21D-1845-08	55255219	184552450	13469980	12	18822											
UGT2B10	7365	broad.mit.edu	37	chr4	69874575	69874575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaatattgttctactcacGaaggatcattaattactgtc	15	14	5	7	1	3	0	2	0	1	0	4	2	3	1	0	1	2	1	0	1	7	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:69874575G>A	uc011cao.1	-	7	1301	c.1175_splice	c.e7+1	p.S392_splice	UGT2B10_uc011can.1_Splice_Site_p.S308_splice			P36537	UDB10_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide B10 (UGT2B10), transcript variant 1, mRNA.	436					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TTCTACTCACGAAGGATCATT	0.368													A	69874575	G	A	69874575	3	1	269	1	0	0	0	0	1	0	0	0	17058	1072	37	1	1898	1	UGT2B10	4	69874575	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		69874575	121279701	13	18823											
NDST4	64579	broad.mit.edu	37	chr4	115891587	115891587	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaataaaatgtgctcaccAgtgcaaattccttgttgaga	14	11	7	9	0	1	1	1	1	0	1	2	2	2	1	2	0	2	3	2	0	4	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr4:115891587A>G	uc003ibu.3	-	4	1900	c.1221_splice	c.e4+1	p.L407_splice	NDST4_uc010imw.3_Splice_Site	NM_022569	NP_072091	Q9H3R1	NDST4_HUMAN	Homo sapiens N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4 (NDST4), mRNA.	407	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGCTCACCAGTGCAAATTC	0.393													G	115891587	A	G	115891587	3	3	269	1	0	0	0	0	1	0	0	0	10334	202	7	3	1442	3	NDST4	4	115891587	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08	46017012	115891587	75262689	14	18824											
HEATR7B2	133558	broad.mit.edu	37	chr5	41058293	41058293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggcccgtgggccttaaCgatgctcaaagtctgtacag	8	9	13	11	3	2	0	1	0	1	0	2	1	2	0	2	2	3	2	2	2	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:41058293C>T	uc003jmj.4	-	6	1118	c.628G>A	c.(628-630)Gtt>Att	p.V210I	HEATR7B2_uc003jmi.4_5'UTR|HEATR7B2_uc021xxt.1_Missense_Mutation_p.V210I	NM_173489	NP_775760	Q7Z745	HTRB2_HUMAN	Homo sapiens HEAT repeat family member 7B2 (HEATR7B2), mRNA.	210							binding			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|liver(1)|lung(81)|ovary(6)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(4)	133						TGGGCCTTAACGATGCTCAAA	0.512													T	41058293	C	T	41058293	3	4	269	1	0	0	0	0	1	0	0	0	7090	536	19	1	4273	1	HEATR7B2	5	41058293	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		41058293	139856967	15	18825											
PIK3R1	5295	broad.mit.edu	37	chr5	67589634	67589635	+	In_Frame_Ins	INS	-	-	ATATGAAGA																															agtcgagaatatgatagattINSatatgaagaatatacccgca																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr5:67589634_67589635insATATGAAGA	uc003jva.3	+	10	1977_1978	c.1397_1398insATATGAAGA	c.(1396-1398)tta>ttATATGAAGAa	p.469_470insYEE	PIK3R1_uc003jvc.3_In_Frame_Ins_p.169_170insYEE|PIK3R1_uc003jvd.3_In_Frame_Ins_p.199_200insYEE|PIK3R1_uc003jve.3_In_Frame_Ins_p.148_149insYEE|PIK3R1_uc021xzn.1_In_Frame_Ins_p.106_107insYEE|PIK3R1_uc011crb.2_In_Frame_Ins_p.139_140insYEE	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	469					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D434_Q475del(2)|p.Y463_L466del(1)|p.Y467_E468insGEYDRLYE(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TATGATAGATTATATGAAGAAT	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			ATATGAAGA	67589635	-	ATATGAAGA	67589634	7	5	269	1	0	1	1	0	0	0	0	0	11995	1764	61	0	1565	0	PIK3R1	5	67589634	In_Frame_Ins	INS	-	TCGA-76-6280-01A-21D-1845-08	26531341	67589634	113325626	16	18826											
PKHD1	5314	broad.mit.edu	37	chr6	51491840	51491840	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggcccttgtgattctcGgcgtttggatgagatgtgga	5	15	15	6	2	1	2	0	2	1	1	2	5	1	4	1	4	0	1	1	4	0	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51491840G>A	uc003pah.1	-	65	12016	c.11740C>T	c.(11740-11742)Cga>Tga	p.R3914*		NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	3914					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.R3913R(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGTGATTCTCGGCGTTTGGAT	0.438													A	51491840	G	A	51491840	4	1	269	1	0	0	0	0	0	1	0	0	12048	1124	39	1	492	1	PKHD1	6	51491840	Nonsense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		51491840	119623227	17	18827											
PKHD1	5314	broad.mit.edu	37	chr6	51918008	51918008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggagatccccgaagcaaCgcacacaagtctcccagagg	12	4	11	14	2	1	2	0	0	1	2	3	4	2	2	3	2	2	3	3	2	3	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51918008C>T	uc003pah.1	-	20	2282	c.2006G>A	c.(2005-2007)cGt>cAt	p.R669H	PKHD1_uc003pai.3_Missense_Mutation_p.R669H	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	669					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CCCGAAGCAACGCACACAAGT	0.582													T	51918008	C	T	51918008	3	4	269	1	0	0	0	0	1	0	0	0	12048	536	19	1	10445	1	PKHD1	6	51918008	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	426168	51918008	119197059	18	18828											
PKHD1	5314	broad.mit.edu	37	chr6	51941107	51941107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggataaacttggtgaaCgatgggtgtctgcgccttgg	7	12	16	6	2	1	1	0	1	1	0	1	3	1	2	1	5	3	0	1	5	3	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:51941107C>T	uc003pah.1	-	5	691	c.415G>A	c.(415-417)Gtt>Att	p.V139I	PKHD1_uc003pai.3_Missense_Mutation_p.V139I	NM_138694	NP_619639	P08F94	PKHD1_HUMAN	Homo sapiens polycystic kidney and hepatic disease 1 (autosomal recessive) (PKHD1), transcript variant 1, mRNA.	139	IPT/TIG 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.V139I(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTTGGTGAACGATGGGTGTC	0.393													T	51941107	C	T	51941107	3	4	269	1	0	0	0	0	1	0	0	0	12048	536	19	1	12096	1	PKHD1	6	51941107	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	23099	51941107	119173960	19	18829											
VGLL2	245806	broad.mit.edu	37	chr6	117589651	117589651	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagctctgggccctggCgaggtgagtatagggccctg	7	7	17	10	1	1	1	0	1	1	0	1	3	1	2	2	5	1	2	2	5	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:117589651C>T	uc003pxn.3	+	1	594	c.388C>T	c.(388-390)Cga>Tga	p.R130*	VGLL2_uc003pxo.3_Nonsense_Mutation_p.R130*	NM_182645	NP_872586	Q8N8G2	VGLL2_HUMAN	Homo sapiens vestigial like 2 (Drosophila) (VGLL2), transcript variant 1, mRNA.	130					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		TGGGCCCTGGCGAGGTGAGTA	0.567													T	117589651	C	T	117589651	4	4	269	1	0	0	0	0	0	1	0	0	17261	760	27	1	394	1	VGLL2	6	117589651	Nonsense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	65648544	117589651	53525416	20	18830											
IGF2R	3482	broad.mit.edu	37	chr6	160506085	160506085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgggctgctctgaaaggGccagcatttgcagaaggacc	9	7	13	12	0	1	2	0	1	1	1	1	3	1	3	3	3	3	4	3	3	2	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr6:160506085G>A	uc003qta.3	+	40	6275	c.6127G>A	c.(6127-6129)Gcc>Acc	p.A2043T		NM_000876	NP_000867	P11717	MPRI_HUMAN	Homo sapiens insulin-like growth factor 2 receptor (IGF2R), mRNA.	2043					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTCTGAAAGGGCCAGCATTTG	0.517													A	160506085	G	A	160506085	3	1	269	1	0	0	0	0	1	0	0	0	7634	1203	42	2	6289	2	IGF2R	6	160506085	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	42916434	160506085	10608982	21	18831											
ZPBP	11055	broad.mit.edu	37	chr7	50097612	50097612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatattttagttgaagacGtttaacaatttcttccacag	13	15	6	7	1	1	2	0	1	1	1	2	2	2	2	1	0	2	3	1	0	5	8			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:50097612G>A	uc003tou.3	-	3	530	c.460C>T	c.(460-462)Cgt>Tgt	p.R154C	ZPBP_uc010kyw.3_Missense_Mutation_p.R153C	NM_007009	NP_008940	Q9BS86	ZPBP1_HUMAN	Homo sapiens zona pellucida binding protein (ZPBP), transcript variant 1, mRNA.	154					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					AGTTGAAGACGTTTAACAATT	0.294													A	50097612	G	A	50097612	3	1	269	1	0	0	0	0	1	0	0	0	18318	1145	40	1	615	1	ZPBP	7	50097612	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		50097612	109041051	22	18832											
NRCAM	4897	broad.mit.edu	37	chr7	107880546	107880546	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcacacactgaatttcCttttcttctttcacaaaaga	13	14	3	11	0	4	3	2	1	2	2	5	3	5	3	1	0	0	0	1	0	3	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:107880546C>A	uc022aka.1	-	0					NRCAM_uc011kmk.2_5'UTR|NRCAM_uc003vfd.3_5'UTR|NRCAM_uc003vfe.3_5'UTR|NRCAM_uc003vfc.3_5'UTR	NM_001037132	NP_001032209	Q92823	NRCAM_HUMAN	Homo sapiens neuronal cell adhesion molecule (NRCAM), transcript variant 1, mRNA.						angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						ACTGAATTTCCTTTTCTTCTT	0.383													A	107880546	C	A	107880546	1	1	269	1	0	0	0	0	0	0	0	0	10720	696	24	4		4	NRCAM	7	107880546	Translation_Start_Site	SNP	C	TCGA-76-6280-01A-21D-1845-08	57782934	107880546	51258117	23	18833											
GRM8	2918	broad.mit.edu	37	chr7	126173900	126173900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctgcagacagacgcCgggtgagtatgttctctatg	8	9	15	9	2	1	3	0	1	1	2	2	3	1	3	1	3	1	5	1	3	2	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr7:126173900C>T	uc003vlr.2	-	7	1847	c.1536G>A	c.(1534-1536)ccG>ccA	p.P512P	GRM8_uc003vls.2_Non-coding_Transcript|GRM8_uc011kof.1_Non-coding_Transcript|GRM8_uc003vlt.2_Silent_p.P512P|GRM8_uc010lkz.1_Non-coding_Transcript	NM_000845	NP_000836	O00222	GRM8_HUMAN	Homo sapiens glutamate receptor, metabotropic 8 (GRM8), transcript variant 1, mRNA.	512					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.H511P(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AGACAGACGCCGGGTGAGTAT	0.488										HNSCC(24;0.065)			T	126173900	C	T	126173900	2	4	269	1	0	0	0	0	0	0	0	1	6858	639	23	1		1	GRM8	7	126173900	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	18293354	126173900	32964763	24	18834											
SPTAN1	6709	broad.mit.edu	37	chr9	131381157	131381157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgtaattaggggtcagCggctggaagagtccttggaa	9	10	14	8	1	1	1	1	0	0	1	3	3	3	3	2	5	1	2	2	5	4	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:131381157C>T	uc004bvl.4	+	42	5735	c.5593C>T	c.(5593-5595)Cgg>Tgg	p.R1865W	SPTAN1_uc004bvm.4_Missense_Mutation_p.R1870W|SPTAN1_uc004bvn.4_Missense_Mutation_p.R1845W	NM_003127	NP_003118	Q13813	SPTA2_HUMAN	Homo sapiens spectrin, alpha, non-erythrocytic 1 (alpha-fodrin) (SPTAN1), transcript variant 2, mRNA.	1865					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TAGGGGTCAGCGGCTGGAAGA	0.438													T	131381157	C	T	131381157	3	4	269	1	0	0	0	0	1	0	0	0	15213	759	27	1	5778	1	SPTAN1	9	131381157	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		131381157	9832274	25	18835											
CACNA1B	774	broad.mit.edu	37	chr9	140777224	140777224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccctatttcatcgggaTcttttgcttcgaggcaggga	7	12	13	9	2	2	0	1	0	1	0	4	4	2	3	1	4	2	2	1	4	1	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr9:140777224T>C	uc004cog.3	+	2	564	c.419T>C	c.(418-420)aTc>aCc	p.I140T	AK128414_uc004cof.1_Intron|CACNA1B_uc022bqn.1_Missense_Mutation_p.I140T	NM_000718	NP_000709	Q00975	CAC1B_HUMAN	Homo sapiens calcium channel, voltage-dependent, N type, alpha 1B subunit (CACNA1B), transcript variant 1, mRNA.	140					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TTCATCGGGATCTTTTGCTTC	0.572													C	140777224	T	C	140777224	3	2	269	1	0	0	0	0	1	0	0	0	2565	1435	50	3	429	3	CACNA1B	9	140777224	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	9396067	140777224	436207	26	18836											
CACNB2	783	broad.mit.edu	37	chr10	18828173	18828173	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggttctcaaggtgaTcagaggactgatcgctccgc	8	9	13	11	2	2	3	2	2	1	1	5	4	3	4	2	3	1	2	2	3	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:18828173T>C	uc001ipr.2	+	13	1563	c.1503T>C	c.(1501-1503)gaT>gaC	p.D501D	CACNB2_uc001ipt.2_Silent_p.D463D|CACNB2_uc009xjz.1_Silent_p.D251D|CACNB2_uc001ips.2_Silent_p.D477D|CACNB2_uc001ipu.3_Silent_p.D473D|CACNB2_uc001ipv.3_Silent_p.D449D|CACNB2_uc009xka.2_Silent_p.D435D|CACNB2_uc001ipw.2_Silent_p.D408D|CACNB2_uc001ipx.2_Silent_p.D446D|CACNB2_uc001ipz.2_Silent_p.D423D|CACNB2_uc001ipy.2_Silent_p.D447D|CACNB2_uc010qco.1_Silent_p.D415D|CACNB2_uc001iqa.2_Silent_p.D453D|NSUN6_uc001iqb.3_Non-coding_Transcript	NM_201596	NP_963890	Q08289	CACB2_HUMAN	Homo sapiens calcium channel, voltage-dependent, beta 2 subunit (CACNB2), transcript variant 2, mRNA.	501				D -> H (in Ref. 3; AAD33729/AAD33730).	axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTCAAGGTGATCAGAGGACTG	0.527													C	18828173	T	C	18828173	2	2	269	1	0	0	0	0	0	0	0	1	2579	1432	50	3		3	CACNB2	10	18828173	Silent	SNP	T	TCGA-76-6280-01A-21D-1845-08		18828173	116706574	27	18837											
ACTA2	59	broad.mit.edu	37	chr10	90707027	90707027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccataccttttccatgtcGtcccagttggtgatgatgcc	6	14	8	13	1	0	2	0	2	0	0	4	2	3	2	5	1	2	1	5	1	1	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:90707027G>A	uc001kfp.3	-	2	362	c.246C>T	c.(244-246)gaC>gaT	p.D82D	STAMBPL1_uc010qmx.1_Intron|ACTA2_uc010qmy.2_Silent_p.D37D|ACTA2_uc001kfq.3_Silent_p.D82D|ACTA2_uc010qmz.1_Silent_p.D82D	NM_001613	NP_001604	P62736	ACTA_HUMAN	Homo sapiens actin, alpha 2, smooth muscle, aorta (ACTA2), transcript variant 2, mRNA.	82					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		TTTCCATGTCGTCCCAGTTGG	0.502													A	90707027	G	A	90707027	2	1	269	1	0	0	0	0	0	0	0	1	192	1136	40	1		1	ACTA2	10	90707027	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	71878854	90707027	44827720	28	18838											
HTR7	3363	broad.mit.edu	37	chr10	92616992	92616992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgtccaaagatccacttgCccccgatgaggtcggtgacg	9	8	12	12	3	0	3	0	2	0	1	3	4	2	3	4	2	1	0	4	2	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr10:92616992C>T	uc001kha.3	-	0	680	c.437G>A	c.(436-438)gGc>gAc	p.G146D	HTR7_uc001kgz.3_Missense_Mutation_p.G146D|HTR7_uc001khb.3_Missense_Mutation_p.G146D	NM_019859	NP_062873	P34969	5HT7R_HUMAN	Homo sapiens 5-hydroxytryptamine (serotonin) receptor 7 (adenylate cyclase-coupled) (HTR7), transcript variant d, mRNA.	146					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	GATCCACTTGCCCCCGATGAG	0.592													T	92616992	C	T	92616992	3	4	269	1	0	0	0	0	1	0	0	0	7510	739	26	2	1022	2	HTR7	10	92616992	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	1909965	92616992	42917755	29	18839											
OR52N1	79473	broad.mit.edu	37	chr11	5809262	5809262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcccccaaaatggtgtgtaAagaaggtaaagaaggctgga	15	7	13	6	0	0	2	0	0	0	2	1	3	1	3	2	4	0	3	2	4	8	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:5809262A>G	uc010qzo.2	-	0	785	c.785T>C	c.(784-786)tTt>tCt	p.F262S	TRIM5_uc001mbq.1_Intron|TRIM22_uc009yet.2_Intron	NM_001001913	NP_001001913	Q8NH53	O52N1_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily N, member 1 (OR52N1), mRNA.	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		ATGGTGTGTAAAGAAGGTAAA	0.453													G	5809262	A	G	5809262	3	3	269	1	0	0	0	0	1	0	0	0	11203	14	1	3	180	3	OR52N1	11	5809262	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08		5809262	129197254	30	18840											
NAV2	89797	broad.mit.edu	37	chr11	20065785	20065785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaggacgaagccttcaGccccggcaggcgcactgaag	10	4	13	14	3	1	1	1	1	0	0	1	3	1	2	4	3	3	2	4	3	3	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:20065785G>A	uc010rdm.2	+	13	3596	c.3235G>A	c.(3235-3237)Gcc>Acc	p.A1079T	NAV2_uc001mpp.3_Missense_Mutation_p.A992T|NAV2_uc001mpr.4_Missense_Mutation_p.A1056T|NAV2_uc021qew.1_Missense_Mutation_p.A1056T|NAV2_uc001mpt.2_Missense_Mutation_p.A142T|NAV2_uc009yhx.3_Missense_Mutation_p.A142T|NAV2_uc009yhy.1_Missense_Mutation_p.A55T	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	1079						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						GAAGCCTTCAGCCCCGGCAGG	0.567													A	20065785	G	A	20065785	3	1	269	1	0	0	0	0	1	0	0	0	10260	971	34	2	3325	2	NAV2	11	20065785	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	14256523	20065785	114940731	31	18841											
TM7SF2	7108	broad.mit.edu	37	chr11	64882420	64882420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggatatcacacatgaCgggtttggcttcatgctggc	9	11	11	10	1	2	1	2	1	0	0	2	2	2	2	1	4	1	3	1	4	1	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:64882420C>T	uc001ocv.3	+	4	1419	c.822C>T	c.(820-822)gaC>gaT	p.D274D	TM7SF2_uc001oct.3_Silent_p.D253D|TM7SF2_uc010rny.2_Silent_p.D137D|TM7SF2_uc001ocu.3_Silent_p.D253D|BC104003_uc009yqb.1_5'Flank	NM_003273	NP_003264	O76062	ERG24_HUMAN	Homo sapiens transmembrane 7 superfamily member 2 (TM7SF2), mRNA.	253					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCACACATGACGGGTTTGGCT	0.627													T	64882420	C	T	64882420	2	4	269	1	0	0	0	0	0	0	0	1	16074	535	19	1		1	TM7SF2	11	64882420	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	44816635	64882420	70124096	32	18842											
KCNE3	10008	broad.mit.edu	37	chr11	74168386	74168386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgtatcccaggatgaGgctgcccacagttacagcaa	10	7	13	11	1	0	1	0	1	0	0	1	2	1	2	2	3	3	4	2	3	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr11:74168386G>A	uc021qng.1	-	0	223	c.223C>T	c.(223-225)Ctc>Ttc	p.L75F	KCNE3_uc001ovc.3_Missense_Mutation_p.L75F|KCNE3_uc001ovd.2_Missense_Mutation_p.L75F	NM_005472	NP_005463	Q9Y6H6	KCNE3_HUMAN	Homo sapiens potassium voltage-gated channel, Isk-related family, member 3 (KCNE3), mRNA.	75						integral to membrane	voltage-gated potassium channel activity			cervix(1)|large_intestine(1)|lung(1)|ovary(1)	4	Breast(11;2.86e-06)					CCCAGGATGAGGCTGCCCACA	0.512													A	74168386	G	A	74168386	3	1	269	1	0	0	0	0	1	0	0	0	8082	1000	35	2	92	2	KCNE3	11	74168386	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	9285966	74168386	60838130	33	18843											
HIP1R	9026	broad.mit.edu	37	chr12	123339938	123339938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagcacagggccccccGcgggggagccagtggtgagc	8	3	17	13	2	1	2	1	1	0	1	1	3	1	3	4	4	3	1	4	4	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr12:123339938G>A	uc001udj.1	+	10	1038	c.979G>A	c.(979-981)Gcg>Acg	p.A327T	HIP1R_uc001udg.1_Missense_Mutation_p.A315T|HIP1R_uc001udi.1_Missense_Mutation_p.A327T|HIP1R_uc001udk.1_5'Flank	NM_003959	NP_003950	O75146	HIP1R_HUMAN	Homo sapiens huntingtin interacting protein 1 related (HIP1R), mRNA.	327					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		AGGGCCCCCCGCGGGGGAGCC	0.677													A	123339938	G	A	123339938	3	1	269	1	0	0	0	0	1	0	0	0	7170	1087	38	1	1021	1	HIP1R	12	123339938	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		123339938	10511957	34	18844											
TNFRSF19	55504	broad.mit.edu	37	chr13	24233260	24233260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacacggcgctggctgccGttatctgcagcgctctggcc	4	8	15	14	4	2	0	0	0	2	0	2	1	2	1	2	4	3	5	2	4	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:24233260G>A	uc001uov.2	+	5	721	c.517G>A	c.(517-519)Gtt>Att	p.V173I	TNFRSF19_uc001uot.3_Missense_Mutation_p.V173I|TNFRSF19_uc010tcu.2_Missense_Mutation_p.V41I|TNFRSF19_uc001uow.3_Missense_Mutation_p.V173I	NM_018647	NP_061117	Q9NS68	TNR19_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 19 (TNFRSF19), transcript variant 1, mRNA.	173					apoptosis|induction of apoptosis|JNK cascade	integral to membrane|mitochondrion	tumor necrosis factor receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	22		all_cancers(29;3.4e-22)|all_epithelial(30;8.75e-19)|all_lung(29;5.09e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00193)|Epithelial(112;0.0137)|OV - Ovarian serous cystadenocarcinoma(117;0.0465)|GBM - Glioblastoma multiforme(144;0.184)|Lung(94;0.19)		GCTGGCTGCCGTTATCTGCAG	0.577													A	24233260	G	A	24233260	3	1	269	1	0	0	0	0	1	0	0	0	16392	1145	40	1	535	1	TNFRSF19	13	24233260	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		24233260	90936618	35	18845											
COG6	57511	broad.mit.edu	37	chr13	40268775	40268775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatattttaataggttcGaattgagcaagtaatagttg	14	15	8	4	1	1	1	1	1	0	0	2	2	1	1	0	1	1	4	0	1	7	9			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:40268775G>T	uc001uxh.2	+	11	1179	c.1079G>T	c.(1078-1080)cGa>cTa	p.R360L	COG6_uc001uxi.2_Missense_Mutation_p.R308L|COG6_uc010acb.2_Missense_Mutation_p.R360L	NM_020751	NP_065802	Q9Y2V7	COG6_HUMAN	Homo sapiens component of oligomeric golgi complex 6 (COG6), transcript variant 1, mRNA.	360					protein transport	Golgi membrane|Golgi transport complex				NS(1)|kidney(2)|large_intestine(5)|lung(4)|skin(1)	13		Lung NSC(96;0.000124)|Breast(139;0.0199)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.03e-09)|Epithelial(112;7e-07)|OV - Ovarian serous cystadenocarcinoma(117;0.00015)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.0168)		TAATAGGTTCGAATTGAGCAA	0.274													T	40268775	G	T	40268775	3	4	269	1	0	0	0	0	1	0	0	0	3693	1058	37	4	1125	4	COG6	13	40268775	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16035515	40268775	74901103	36	18846											
DGKH	160851	broad.mit.edu	37	chr13	42761271	42761271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgccgttgtagctgatgCcgtggccagtaaagtaagag	12	9	13	7	2	0	2	0	1	0	1	0	2	0	2	3	1	3	5	3	1	5	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr13:42761271C>T	uc001uyl.2	+	13	1692	c.1625C>T	c.(1624-1626)gCc>gTc	p.A542V	DGKH_uc010tfh.2_Missense_Mutation_p.A542V|DGKH_uc001uym.2_Missense_Mutation_p.A542V|DGKH_uc001uyn.2_Non-coding_Transcript|DGKH_uc010tfi.2_Missense_Mutation_p.A297V|DGKH_uc001uyo.2_Missense_Mutation_p.A406V|DGKH_uc010tfj.2_Missense_Mutation_p.A406V|DGKH_uc001uyp.3_Non-coding_Transcript	NM_178009	NP_821077	Q86XP1	DGKH_HUMAN	Homo sapiens diacylglycerol kinase, eta (DGKH), transcript variant 2, mRNA.	542					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.A542V(2)		breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GTAGCTGATGCCGTGGCCAGT	0.423													T	42761271	C	T	42761271	3	4	269	1	0	0	0	0	1	0	0	0	4509	739	26	2	1679	2	DGKH	13	42761271	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	2492496	42761271	72408607	37	18847											
OR4K1	79544	broad.mit.edu	37	chr14	20404282	20404282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttcctgggcggtgggcGttcttcattctgtgagccac	4	14	12	11	2	3	1	1	1	2	0	4	1	4	1	2	3	1	1	2	3	1	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:20404282G>A	uc001vwj.2	+	0	516	c.457G>A	c.(457-459)Gtt>Att	p.V153I		NM_001004063	NP_001004063	Q8NGD4	OR4K1_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily K, member 1 (OR4K1), mRNA.	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G152G(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		GGCGGTGGGCGTTCTTCATTC	0.453													A	20404282	G	A	20404282	3	1	269	1	0	0	0	0	1	0	0	0	11143	1145	40	1	459	1	OR4K1	14	20404282	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		20404282	86945258	38	18848											
NIN	51199	broad.mit.edu	37	chr14	51239180	51239180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtacgtcgtccactctcatCgaaagactggaaggaggaag	12	7	13	9	3	1	1	1	0	1	1	5	5	2	4	1	4	1	1	1	4	4	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:51239180C>T	uc001wyi.3	-	8	1011	c.820G>A	c.(820-822)Gat>Aat	p.D274N	NIN_uc001wyj.3_Non-coding_Transcript|NIN_uc001wym.2_Missense_Mutation_p.D274N|NIN_uc001wyk.3_Missense_Mutation_p.D274N|NIN_uc001wyo.3_Missense_Mutation_p.D274N|NIN_uc001wyp.1_Missense_Mutation_p.D236N	NM_020921	NP_065972	Q8N4C6	NIN_HUMAN	Homo sapiens ninein (GSK3B interacting protein) (NIN), transcript variant 2, mRNA.	274					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CCACTCTCATCGAAAGACTGG	0.502			T	PDGFRB	MPD								T	51239180	C	T	51239180	3	4	269	1	0	0	0	0	1	0	0	0	10493	884	31	1	5821	1	NIN	14	51239180	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	30834898	51239180	56110360	39	18849											
SYT16	83851	broad.mit.edu	37	chr14	62567295	62567295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaggcgtactatgaagcGtaaagagatgattggctgga	14	9	13	5	2	0	3	0	2	0	1	0	5	0	4	0	3	3	3	0	3	6	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:62567295G>A	uc001xfu.1	+	5	2005	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	SYT16_uc010tse.1_Missense_Mutation_p.R161H	NM_031914	NP_114120	Q17RD7	SYT16_HUMAN	Homo sapiens synaptotagmin XVI (SYT16), mRNA.	603	C2 2.							p.R583H(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		ACTATGAAGCGTAAAGAGATG	0.483													A	62567295	G	A	62567295	3	1	269	1	0	0	0	0	1	0	0	0	15569	1145	40	1	1830	1	SYT16	14	62567295	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	11328115	62567295	44782245	40	18850											
DCAF5	8816	broad.mit.edu	37	chr14	69520671	69520671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtggccatgaacagccCtgctactatctgtggctggg	7	10	12	12	0	1	1	0	1	1	0	1	1	1	1	2	3	4	2	2	3	3	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr14:69520671C>T	uc001xkp.3	-	8	2951	c.2732G>A	c.(2731-2733)aGg>aAg	p.R911K	DCAF5_uc001xkq.3_Missense_Mutation_p.R910K	NM_003861	NP_003852	Q96JK2	DCAF5_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 5 (DCAF5), nuclear gene encoding mitochondrial protein, mRNA.	911						CUL4 RING ubiquitin ligase complex				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|upper_aerodigestive_tract(2)	29						ATGAACAGCCCTGCTACTATC	0.473													T	69520671	C	T	69520671	3	4	269	1	0	0	0	0	1	0	0	0	4307	681	24	2	100	2	DCAF5	14	69520671	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	6953376	69520671	37828869	41	18851											
EIF2AK4	440275	broad.mit.edu	37	chr15	40280263	40280263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccgtcagactctggaggcTttttcgagagattctggatg	8	12	12	9	2	3	2	1	0	2	2	4	6	3	4	1	3	0	1	1	3	0	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:40280263T>C	uc001zkm.1	+	14	2533	c.2483T>C	c.(2482-2484)cTt>cCt	p.L828P	EIF2AK4_uc010bbj.1_Missense_Mutation_p.L529P	NM_001013703	NP_001013725	Q9P2K8	E2AK4_HUMAN	Homo sapiens eukaryotic translation initiation factor 2 alpha kinase 4 (EIF2AK4), mRNA.	828	Protein kinase 2.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		CTCTGGAGGCTTTTTCGAGAG	0.393													C	40280263	T	C	40280263	3	2	269	1	0	0	0	0	1	0	0	0	5038	1609	56	3	2541	3	EIF2AK4	15	40280263	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08		40280263	62251129	42	18852											
EHD4	30844	broad.mit.edu	37	chr15	42193062	42193062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatctccttcttggcGttgacacctgatatcttgcc	6	14	7	14	1	4	2	1	2	3	0	5	2	4	2	4	1	1	1	4	1	1	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592													A	42193062	G	A	42193062	2	1	269	1	0	0	0	0	0	0	0	1	5019	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	1912799	42193062	60338330	43	18853											
CYP19A1	1588	broad.mit.edu	37	chr15	51504611	51504611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggataatgtttgtccccTttttcactgggtagccatcg	7	15	9	10	1	2	0	2	0	0	0	4	1	3	1	3	2	1	2	3	2	2	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:51504611T>C	uc001zyz.4	-	9	1420	c.1169A>G	c.(1168-1170)aAg>aGg	p.K390R	CYP19A1_uc001zza.4_Missense_Mutation_p.K390R|CYP19A1_uc001zzb.2_Missense_Mutation_p.K390R	NM_031226	NP_112503	P11511	CP19A_HUMAN	Homo sapiens cytochrome P450, family 19, subfamily A, polypeptide 1 (CYP19A1), transcript variant 2, mRNA.	390					estrogen biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|membrane fraction	aromatase activity|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			endometrium(1)|kidney(4)|large_intestine(9)|lung(11)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	33				all cancers(107;0.000372)|GBM - Glioblastoma multiforme(94;0.0128)	Aminoglutethimide(DB00357)|Anastrozole(DB01217)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Diethylstilbestrol(DB00255)|Exemestane(DB00990)|Letrozole(DB01006)|Testolactone(DB00894)|Testosterone(DB00624)	GTTTGTCCCCTTTTTCACTGG	0.413													C	51504611	T	C	51504611	3	2	269	1	0	0	0	0	1	0	0	0	4181	1609	56	3	350	3	CYP19A1	15	51504611	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	9311549	51504611	51026781	44	18854											
CYP1A2	1544	broad.mit.edu	37	chr15	75045612	75045612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggtcaaccatgacccGtgagtacatacccctcacga	11	7	9	14	2	2	2	2	2	0	0	2	3	2	2	4	2	3	2	4	2	3	2	rs56107638	byFrequency	TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:75045612G>A	uc002ayr.1	+	6	1317	c.1253_splice	c.e6+1	p.P418_splice		NM_000761	NP_000752	P05177	CP1A2_HUMAN	Homo sapiens cytochrome P450, family 1, subfamily A, polypeptide 2 (CYP1A2), mRNA.	418					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	ACCATGACCCGTGAGTACATA	0.493													A	75045612	G	A	75045612	5	1	269	1	0	0	0	0	0	0	1	0	4183	1159	40	1	1272	1	CYP1A2	15	75045612	Splice_Site	SNP	G	TCGA-76-6280-01A-21D-1845-08	23541001	75045612	27485780	45	18855											
SV2B	9899	broad.mit.edu	37	chr15	91801746	91801746	+	Missense_Mutation	SNP	C	C	A																															gcaccgtgtccatggtggccCtgaagttcatgccagagagc																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801746C>A	uc002bqv.3	+	5	1771	c.880C>A	c.(880-882)Ctg>Atg	p.L294M	SV2B_uc002bqt.3_Missense_Mutation_p.L294M|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.L143M	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	294					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			CATGGTGGCCCTGAAGTTCAT	0.567													A	91801746	C	A	91801746	3	1	269	1	0	0	0	0	1	0	0	0	15514	680	24	4	894	4	SV2B	15	91801746	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	16756134	91801746	10729646	46	18856	26	2									
SV2B	9899	broad.mit.edu	37	chr15	91801750	91801750	+	Missense_Mutation	SNP	A	A	G																															cgtgtccatggtggccctgaAgttcatgccagagagcccaa																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr15:91801750A>G	uc002bqv.3	+	5	1775	c.884A>G	c.(883-885)aAg>aGg	p.K295R	SV2B_uc002bqt.3_Missense_Mutation_p.K295R|SV2B_uc002bqu.4_Non-coding_Transcript|SV2B_uc010uqv.2_Missense_Mutation_p.K144R	NM_014848	NP_055663	Q7L1I2	SV2B_HUMAN	Homo sapiens synaptic vesicle glycoprotein 2B (SV2B), transcript variant 1, mRNA.	295					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GTGGCCCTGAAGTTCATGCCA	0.567													G	91801750	A	G	91801750	3	3	269	1	0	0	0	0	1	0	0	0	15514	72	3	3	898	3	SV2B	15	91801750	Missense_Mutation	SNP	A	TCGA-76-6280-01A-21D-1845-08	4	91801750	10729642	47	18857	26	2									
RNF40	9810	broad.mit.edu	37	chr16	30783282	30783282	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagagagcttcaacctCaagagggctcaggtgtgtgc	12	7	14	8	0	3	3	3	0	0	3	3	5	3	3	1	2	3	2	1	2	3	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:30783282C>A	uc002dzq.3	+	17	3535	c.2715C>A	c.(2713-2715)ctC>ctA	p.L905L	RNF40_uc010caa.3_Silent_p.L905L|RNF40_uc010cab.3_Silent_p.L805L|RNF40_uc010vfa.2_Silent_p.L237L|RNF40_uc010vfb.2_Silent_p.L597L|RNF40_uc002dzr.3_Silent_p.L905L|RNF40_uc010vfc.1_Silent_p.L237L	NM_014771	NP_055586	O75150	BRE1B_HUMAN	Homo sapiens ring finger protein 40 (RNF40), transcript variant 1, mRNA.	905					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GCTTCAACCTCAAGAGGGCTC	0.647													A	30783282	C	A	30783282	2	1	269	1	0	0	0	0	0	0	0	1	13584	813	29	4		4	RNF40	16	30783282	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08		30783282	59571471	48	18858											
MMP15	4324	broad.mit.edu	37	chr16	58079116	58079116	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcggacagcgcagagggCgacgtgggggatggggatgg	7	3	25	6	4	0	1	0	0	0	1	0	5	0	4	0	9	1	1	0	9	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:58079116C>T	uc002ena.3	+	9	2749	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G		NM_002428	NP_002419	P51511	MMP15_HUMAN	Homo sapiens matrix metallopeptidase 15 (membrane-inserted) (MMP15), mRNA.	592					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GCGCAGAGGGCGACGTGGGGG	0.736													T	58079116	C	T	58079116	2	4	269	1	0	0	0	0	0	0	0	1	9729	755	27	1		1	MMP15	16	58079116	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	27295834	58079116	32275637	49	18859											
ATP2C2	9914	broad.mit.edu	37	chr16	84449185	84449185	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccggatccctgcagacatCcgactcactgaggtgagtgg	9	7	13	12	2	1	3	1	2	0	1	3	6	3	4	3	3	1	1	3	3	0	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr16:84449185C>A	uc010chj.3	+	6	701	c.612C>A	c.(610-612)atC>atA	p.I204I	ATP2C2_uc002fhx.3_Silent_p.I204I|ATP2C2_uc002fhy.3_Silent_p.I221I|ATP2C2_uc002fhz.3_Silent_p.I53I	NM_014861	NP_055676	O75185	AT2C2_HUMAN	Homo sapiens ATPase, Ca++ transporting, type 2C, member 2 (ATP2C2), mRNA.	204					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CTGCAGACATCCGACTCACTG	0.507													A	84449185	C	A	84449185	2	1	269	1	0	0	0	0	0	0	0	1	1149	845	30	4		4	ATP2C2	16	84449185	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	26370069	84449185	5905568	50	18860											
TRPV2	51393	broad.mit.edu	37	chr17	16323552	16323552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaagtacctcaccgactcGgaatacacaggtagaccctg	13	6	9	13	2	1	1	1	0	0	1	2	3	1	2	3	2	3	3	3	2	5	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:16323552G>A	uc002gpy.3	+	2	723	c.324G>A	c.(322-324)tcG>tcA	p.S108S	TRPV2_uc002gpz.3_5'UTR	NM_016113	NP_057197	Q9Y5S1	TRPV2_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 2 (TRPV2), mRNA.	108	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity	p.S108S(2)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TCACCGACTCGGAATACACAG	0.582													A	16323552	G	A	16323552	2	1	269	1	0	0	0	0	0	0	0	1	16697	1103	39	1		1	TRPV2	17	16323552	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08		16323552	64871658	51	18861											
MAP2K3	5606	broad.mit.edu	37	chr17	21201792	21201792	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgcacccaaccccacGtgagtctgcctcagtttctc	7	8	6	20	2	3	1	1	1	2	0	4	1	3	1	6	0	2	2	6	0	1	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:21201792G>A	uc002gys.3	+	2	381	c.116_splice	c.e2+1	p.T39_splice	MAP2K3_uc002gyt.3_Splice_Site_p.T10_splice|MAP2K3_uc021tsq.1_Splice_Site_p.T10_splice|MAP2K3_uc021tsr.1_Splice_Site_p.T10_splice	NM_145109	NP_002747	P46734	MP2K3_HUMAN	Homo sapiens mitogen-activated protein kinase kinase 3 (MAP2K3), transcript variant B, mRNA.	39					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CCAACCCCACGTGAGTCTGCC	0.577													A	21201792	G	A	21201792	5	1	269	1	0	0	0	0	0	0	1	0	9313	1159	40	1	123	1	MAP2K3	17	21201792	Splice_Site	SNP	G	TCGA-76-6280-01A-21D-1845-08	4878240	21201792	59993418	52	18862											
TMEM132E	124842	broad.mit.edu	37	chr17	32953325	32953325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcccttcgtggtgttcCagaccaaggagctgccggtc	6	8	13	14	3	0	1	0	0	0	1	3	3	1	2	5	3	3	2	5	3	1	2			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:32953325C>A	uc002hif.3	+	1	575	c.247C>A	c.(247-249)Cag>Aag	p.Q83K		NM_207313	NP_997196	Q6IEE7	T132E_HUMAN	Homo sapiens transmembrane protein 132E (TMEM132E), mRNA.	83						integral to membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CGTGGTGTTCCAGACCAAGGA	0.697													A	32953325	C	A	32953325	3	1	269	1	0	0	0	0	1	0	0	0	16148	595	21	4	253	4	TMEM132E	17	32953325	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	11751533	32953325	48241885	53	18863											
MAPT	4137	broad.mit.edu	37	chr17	44067273	44067273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttcctctgctaaaaccttGaaaaataggccttgccttag	11	12	7	11	1	1	1	0	1	1	0	2	1	2	1	4	1	3	2	4	1	6	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:44067273G>A	uc002ijr.4	+	7	1534	c.1212G>A	c.(1210-1212)ttG>ttA	p.L404L	MAPT_uc010dau.3_Silent_p.L404L|MAPT_uc002ijs.4_Intron|MAPT_uc002ijx.4_Intron|MAPT_uc021tyv.1_Intron|MAPT_uc002ijt.4_Intron|MAPT_uc021tyw.1_Intron|MAPT_uc002iju.4_Intron	NM_016835	NP_058519	P10636	TAU_HUMAN	Homo sapiens microtubule-associated protein tau (MAPT), transcript variant 1, mRNA.	404					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				CTAAAACCTTGAAAAATAGGC	0.463													A	44067273	G	A	44067273	2	1	269	1	0	0	0	0	0	0	0	1	9372	1281	45	2		2	MAPT	17	44067273	Silent	SNP	G	TCGA-76-6280-01A-21D-1845-08	11113948	44067273	37127937	54	18864											
KIF2B	84643	broad.mit.edu	37	chr17	51901778	51901778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatacaaccaaggccagcCggaaaaggcagctggaaggg	15	2	14	10	1	0	1	0	0	0	1	0	3	0	3	3	5	4	2	3	5	6	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:51901778C>T	uc002iua.2	+	0	1540	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	KIF2B_uc010wna.1_Non-coding_Transcript	NM_032559	NP_115948	Q8N4N8	KIF2B_HUMAN	Homo sapiens kinesin family member 2B (KIF2B), mRNA.	462	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.S461T(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CAAGGCCAGCCGGAAAAGGCA	0.488													T	51901778	C	T	51901778	3	4	269	1	0	0	0	0	1	0	0	0	8356	643	23	1	1386	1	KIF2B	17	51901778	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	7834505	51901778	29293432	55	18865											
CLTC	1213	broad.mit.edu	37	chr17	57738898	57738898	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttcagtactttggtatccTtttggaccagggacagctca	9	13	9	10	0	2	0	2	0	0	0	3	2	3	2	2	3	2	3	2	3	2	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:57738898T>C	uc002ixr.1	+	7	1717	c.1274T>C	c.(1273-1275)cTt>cCt	p.L425P	CLTC_uc002ixp.3_Missense_Mutation_p.L421P|CLTC_uc002ixq.1_Missense_Mutation_p.L421P	NM_004859	NP_004850	Q00610	CLH1_HUMAN	Homo sapiens clathrin, heavy chain (Hc) (CLTC), mRNA.	421	Globular terminal domain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TTTGGTATCCTTTTGGACCAG	0.458			T	"ALK, TFE3"	"ALCL, renal "								C	57738898	T	C	57738898	3	2	269	1	0	0	0	0	1	0	0	0	3597	1609	56	3	1292	3	CLTC	17	57738898	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08	5837120	57738898	23456312	56	18866											
AANAT	15	broad.mit.edu	37	chr17	74465804	74465804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgcatgtgctggccGtgcaccgcgccttccggcag	4	7	12	18	4	0	0	0	0	0	0	1	0	1	0	6	2	3	4	6	2	0	1	rs72466447		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:74465804G>A	uc021udg.1	+	6	1518	c.511G>A	c.(511-513)Gtg>Atg	p.V171M	AANAT_uc002jro.3_Missense_Mutation_p.V126M|AANAT_uc010wte.2_Non-coding_Transcript	NM_001166579	NP_001079	Q16613	SNAT_HUMAN	Homo sapiens aralkylamine N-acetyltransferase (AANAT), transcript variant 1, mRNA.	126	N-acetyltransferase.				circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						TGTGCTGGCCGTGCACCGCGC	0.692													A	74465804	G	A	74465804	3	1	269	1	0	0	0	0	1	0	0	0	18	1145	40	1	525	1	AANAT	17	74465804	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16726906	74465804	6729406	57	18867											
RAC3	5881	broad.mit.edu	37	chr17	79991354	79991354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccactgcccccacacgccCatcctcctggtgggcaccaa	8	5	7	21	1	0	0	0	0	0	0	2	0	2	0	7	2	1	1	7	2	1	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr17:79991354C>T	uc002kdf.3	+	4	433	c.327C>T	c.(325-327)ccC>ccT	p.P109P		NM_005052	NP_005043	P60763	RAC3_HUMAN	Homo sapiens ras-related C3 botulinum toxin substrate 3 (rho family, small GTP binding protein Rac3) (RAC3), mRNA.	109					actin cytoskeleton organization|cell projection assembly|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endomembrane system|filamentous actin|growth cone|lamellipodium|neuronal cell body|plasma membrane	GTP binding|GTPase activity|protein binding			NS(1)|kidney(1)|skin(1)	3	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CCCACACGCCCATCCTCCTGG	0.672													T	79991354	C	T	79991354	2	4	269	1	0	0	0	0	0	0	0	1	13064	581	21	2		2	RAC3	17	79991354	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	5525550	79991354	1203856	58	18868											
ADNP2	22850	broad.mit.edu	37	chr18	77893797	77893797	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttttcaaacactttgtaCtacagcatgaagaagcatgt	15	12	6	8	0	1	2	1	1	0	1	1	2	1	2	0	0	6	3	0	0	6	5			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr18:77893797C>G	uc002lnw.3	+	3	956	c.501C>G	c.(499-501)taC>taG	p.Y167*		NM_014913	NP_055728	Q6IQ32	ADNP2_HUMAN	Homo sapiens ADNP homeobox 2 (ADNP2), mRNA.	167					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ACACTTTGTACTACAGCATGA	0.373													G	77893797	C	G	77893797	4	3	269	1	0	0	0	0	0	1	0	0	324	576	20	4	511	4	ADNP2	18	77893797	Nonsense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08		77893797	183451	59	18869											
TJP3	27134	broad.mit.edu	37	chr19	3731941	3731941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccttacagagtttggcGtcaagctgggcagtcagatc	8	9	11	13	1	2	2	2	0	0	2	3	2	2	2	3	2	2	3	3	2	2	2	rs146857520		TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:3731941G>A	uc010xhv.2	+	4	679	c.679G>A	c.(679-681)Gtc>Atc	p.V227I	TJP3_uc010xhs.2_Missense_Mutation_p.V208I|TJP3_uc010xht.2_Missense_Mutation_p.V172I|TJP3_uc010xhu.2_Missense_Mutation_p.V217I|TJP3_uc010xhw.2_Missense_Mutation_p.V227I	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	208	PDZ 2.					tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAGTTTGGCGTCAAGCTGGG	0.592													A	3731941	G	A	3731941	3	1	269	1	0	0	0	0	1	0	0	0	16031	1145	40	1	697	1	TJP3	19	3731941	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08		3731941	55397042	60	18870											
ZNF700	90592	broad.mit.edu	37	chr19	12059987	12059988	+	Frame_Shift_Del	DEL	CT	CT	-																															atttcaaacacatgaaaaaaCtcacactggagagaaacgct																										TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:12059987_12059988delCT	uc010xme.2	+	4	1393_1394	c.1202_1203delCT	c.(1201-1203)actfs	p.T401fs	ZNF700_uc002msu.3_Frame_Shift_Del_p.T383fs|ZNF700_uc010xmf.2_Intron			Q9H0M5	ZN700_HUMAN	Homo sapiens zinc finger protein 700 (ZNF700), mRNA.	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CATGAAAAAACTCACACTGGAG	0.371													-	12059988	CT	-	12059987	7	5	269	1	0	1	0	1	0	0	0	0	18205	565	20	0	1162	0	ZNF700	19	12059987	Frame_Shift_Del	DEL	CT	TCGA-76-6280-01A-21D-1845-08	8328046	12059987	47068996	61	18871											
CILP2	148113	broad.mit.edu	37	chr19	19656132	19656132	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcctcctggactggcgatctCctggcctggtggcccaaccc	4	8	12	17	1	1	0	0	0	1	0	3	2	2	1	6	5	1	0	6	5	1	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:19656132C>G	uc002nmw.4	+	7	2881	c.2796C>G	c.(2794-2796)ctC>ctG	p.L932L	CILP2_uc002nmv.4_Silent_p.L926L	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN	Homo sapiens cartilage intermediate layer protein 2 (CILP2), mRNA.	926						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTGGCGATCTCCTGGCCTGGT	0.647													G	19656132	C	G	19656132	2	3	269	1	0	0	0	0	0	0	0	1	3460	842	30	4		4	CILP2	19	19656132	Silent	SNP	C	TCGA-76-6280-01A-21D-1845-08	7596145	19656132	39472851	62	18872											
CD22	933	broad.mit.edu	37	chr19	35837131	35837131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcagcattgcacaagcGccaagtggtaaggagggtct	11	10	12	8	1	2	0	1	0	1	0	2	1	2	1	1	3	3	3	1	3	4	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:35837131G>A	uc010edt.3	+	12	2489	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	CD22_uc010edu.3_Missense_Mutation_p.R714H|CD22_uc010edv.3_3'UTR|CD22_uc002nzb.4_Missense_Mutation_p.R625H|CD22_uc010xst.2_Missense_Mutation_p.R630H|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	802					cell adhesion		protein binding|sugar binding	p.R802C(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TTGCACAAGCGCCAAGTGGTA	0.597													A	35837131	G	A	35837131	3	1	269	1	0	0	0	0	1	0	0	0	3015	1087	38	1	2451	1	CD22	19	35837131	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	16180999	35837131	23291852	63	18873											
ADCK4	79934	broad.mit.edu	37	chr19	41209757	41209757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgagctcctcttcaagaaCtctctgcggggagtggtcac	7	9	12	13	2	4	1	2	0	2	1	6	3	5	2	2	3	3	1	2	3	2	1			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:41209757C>G	uc002oor.2	-	7	882	c.580G>C	c.(580-582)Gtt>Ctt	p.V194L	ADCK4_uc002oop.1_5'Flank|ADCK4_uc002ooq.2_Missense_Mutation_p.V153L	NM_024876	NP_079152	Q96D53	ADCK4_HUMAN	Homo sapiens aarF domain containing kinase 4 (ADCK4), transcript variant 1, mRNA.	194	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			tcttcaagaactctcTGCGGG	0.592													G	41209757	C	G	41209757	3	3	269	1	0	0	0	0	1	0	0	0	290	565	20	4	1086	4	ADCK4	19	41209757	Missense_Mutation	SNP	C	TCGA-76-6280-01A-21D-1845-08	5372626	41209757	17919226	64	18874											
LILRB3	11026	broad.mit.edu	37	chr19	54800078	54800078	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggagtcggacttgttttGtggtgggctgagggtctcag	4	14	17	6	1	1	1	1	1	1	0	3	3	1	3	0	5	0	2	0	5	0	4			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr19:54800078G>A	uc002qfd.3	-	6	1380	c.1288C>T	c.(1288-1290)Caa>Taa	p.Q430*	LILRB3_uc002qew.2_Intron|LILRB3_uc010erk.3_Nonsense_Mutation_p.Q366*	NM_006865	NP_006856	O75022	LIRB3_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3 (LILRA3), transcript variant 1, mRNA.	429					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACTTGTTTTGTGGTGGGCTG	0.507													A	54800078	G	A	54800078	4	1	269	1	0	0	0	0	0	1	0	0	8852	1386	48	2		2	LILRB3	19	54800078	Nonsense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	13590321	54800078	4328905	65	18875											
TPX2	22974	broad.mit.edu	37	chr20	30347914	30347914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatggaactggagggcTttttcagggcaaaactcctt	12	10	12	7	0	1	1	1	0	0	1	2	4	2	3	1	4	2	2	1	4	5	3			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:30347914T>C	uc002wwp.1	+	3	859	c.161T>C	c.(160-162)cTt>cCt	p.L54P	TPX2_uc010gdv.1_Missense_Mutation_p.L54P	NM_012112	NP_036244	Q9ULW0	TPX2_HUMAN	Homo sapiens TPX2, microtubule-associated, homolog (Xenopus laevis) (TPX2), mRNA.	54					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACTGGAGGGCTTTTTCAGGGC	0.413													C	30347914	T	C	30347914	3	2	269	1	0	0	0	0	1	0	0	0	16533	1609	56	3	167	3	TPX2	20	30347914	Missense_Mutation	SNP	T	TCGA-76-6280-01A-21D-1845-08		30347914	32677606	66	18876											
NFATC2	4773	broad.mit.edu	37	chr20	50139989	50139989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggggtgaggctccgggcGgcagggcaaccaaggcctcg	6	4	19	12	3	0	1	0	1	0	0	2	1	1	1	3	7	1	4	3	7	2	0			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:50139989G>A	uc002xwd.3	-	1	1011	c.791C>T	c.(790-792)cCg>cTg	p.P264L	NFATC2_uc002xwc.3_Missense_Mutation_p.P264L|NFATC2_uc010zyv.2_Missense_Mutation_p.P45L|NFATC2_uc010zyw.2_Missense_Mutation_p.P45L|NFATC2_uc002xwe.3_Missense_Mutation_p.P244L|NFATC2_uc010zyx.2_Missense_Mutation_p.P244L|NFATC2_uc010zyy.2_Missense_Mutation_p.P45L|NFATC2_uc010zyz.2_Missense_Mutation_p.P45L	NM_173091	NP_775114	Q13469	NFAC2_HUMAN	Homo sapiens nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2 (NFATC2), transcript variant 2, mRNA.	264	3 X approximate SP repeats.				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					GGCTCCGGGCGGCAGGGCAAC	0.751													A	50139989	G	A	50139989	3	1	269	1	0	0	0	0	1	0	0	0	10438	1116	39	1	2070	1	NFATC2	20	50139989	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	19792075	50139989	12885531	67	18877											
RPS21	6227	broad.mit.edu	37	chr20	60963374	60963374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttttcttaagggtgagtcaGatgattccattctccgattg	8	17	9	7	1	3	3	1	2	2	1	5	4	4	3	2	1	0	0	2	1	1	6			TCGA-76-6280-01A-21D-1845-08	TCGA-76-6280-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9096e339-7730-4d7a-acab-a6c4d26c52c3	cafac2eb-4554-4aac-b94d-ba88ded2d361	g.chr20:60963374G>C	uc002yct.3	+	3					RPS21_uc002ycr.3_Missense_Mutation_p.D66H|RPS21_uc002ycs.3_Missense_Mutation_p.D66H			P63220	RS21_HUMAN	Homo sapiens ribosomal protein S21 (RPS21), mRNA.						endocrine pancreas development|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 3'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein N-terminus binding|structural constituent of ribosome			endometrium(2)|lung(1)|prostate(1)	4	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GGGTGAGTCAGATGATTCCAT	0.507													C	60963374	G	C	60963374	3	2	269	1	0	0	0	0	1	0	0	0	13724	942	33	4	210	4	RPS21	20	60963374	Missense_Mutation	SNP	G	TCGA-76-6280-01A-21D-1845-08	10823385	60963374	2062146	68	18878											
AADACL3	126767	broad.mit.edu	37	chr1	12785683	12785683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagctgcttacttggaagTaagtgttgtcctggatgtga	9	14	13	5	0	0	2	0	2	0	0	1	4	1	4	1	2	3	4	1	2	4	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:12785683T>C	uc009vnn.1	+	3	1006	c.773T>C	c.(772-774)gTa>gCa	p.V258A	AADACL3_uc001aug.1_Missense_Mutation_p.V188A	NM_001103170	NP_001096640	Q5VUY0	ADCL3_HUMAN	Homo sapiens arylacetamide deacetylase-like 3 (AADACL3), transcript variant 1, mRNA.	258							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGAAGTAAGTGTTGTC	0.502													C	12785683	T	C	12785683	3	2	270	1	0	0	0	0	1	0	0	0	12	1638	57	3	791	3	AADACL3	1	12785683	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08		12785683	236464938	1	18879											
C1orf129	80133	broad.mit.edu	37	chr1	170964598	170964598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggtggcccagtatttcccCcagctcttgacgactcttat	6	12	9	14	2	2	1	0	1	2	0	3	2	3	1	3	2	1	2	3	2	2	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr1:170964598C>T	uc010plz.2	+	12	1417	c.1263C>T	c.(1261-1263)ccC>ccT	p.P421P	C1orf129_uc001ghg.3_Silent_p.P421P|C1orf129_uc009wvy.3_Silent_p.P228P	NM_001163629	NP_001157101	Q5TGP6	CA129_HUMAN	Homo sapiens chromosome 1 open reading frame 129 (C1orf129), transcript variant 1, mRNA.	421							binding	p.P421S(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(16)|pancreas(1)|prostate(1)|skin(3)	45	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGTATTTCCCCCAGCTCTTGA	0.473													T	170964598	C	T	170964598	2	4	270	1	0	0	0	0	0	0	0	1	2016	610	22	2		2	C1orf129	1	170964598	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	158178915	170964598	78286023	2	18880											
MFSD9	84804	broad.mit.edu	37	chr2	103335367	103335367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggccgcaccccaaagcGctcctccagggccaggacaa	9	4	11	17	2	0	0	0	0	0	0	2	1	2	1	6	3	1	2	6	3	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:103335367G>A	uc002tcb.2	-	5	1005	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	MFSD9_uc010fja.2_Non-coding_Transcript|MFSD9_uc021vls.1_Missense_Mutation_p.R252C	NM_032718	NP_116107	Q8NBP5	MFSD9_HUMAN	Homo sapiens major facilitator superfamily domain containing 9 (MFSD9), mRNA.	313					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						ACCCCAAAGCGCTCCTCCAGG	0.587													A	103335367	G	A	103335367	3	1	270	1	0	0	0	0	1	0	0	0	9614	1087	38	1	491	1	MFSD9	2	103335367	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		103335367	139864006	3	18881											
SLC5A7	60482	broad.mit.edu	37	chr2	108626710	108626710	+	Frame_Shift_Del	DEL	G	G	-																															ttcggacaaagaaatcgtttGggttatgcgaatcacagtgt																										TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:108626710delG	uc002tdv.3	+	8	1412	c.1136delG	c.(1135-1137)tggfs	p.W379fs	SLC5A7_uc010ywm.2_Frame_Shift_Del_p.W132fs|SLC5A7_uc010fjj.3_Frame_Shift_Del_p.W379fs|SLC5A7_uc010ywn.2_Frame_Shift_Del_p.W266fs	NM_021815	NP_068587	Q9GZV3	SC5A7_HUMAN	Homo sapiens solute carrier family 5 (choline transporter), member 7 (SLC5A7), mRNA.	379					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity	p.V378I(2)|p.V378V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	GAAATCGTTTGGGTTATGCGA	0.443													-	108626710	G	-	108626710	7	5	270	1	0	1	0	1	0	0	0	0	14764	1357	47	0	1166	0	SLC5A7	2	108626710	Frame_Shift_Del	DEL	G	TCGA-76-6282-01A-11D-1696-08	5291343	108626710	134572663	4	18882											
WNT10A	80326	broad.mit.edu	37	chr2	219746954	219746954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgccaacacagtgtgccTaacattgccaggcctgagcc	11	7	9	14	0	0	1	0	1	0	0	0	1	0	1	5	1	6	0	5	1	3	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:219746954T>C	uc002vjd.1	+	1	648	c.185T>C	c.(184-186)cTa>cCa	p.L62P		NM_025216	NP_079492	Q9GZT5	WN10A_HUMAN	Homo sapiens wingless-type MMTV integration site family, member 10A (WNT10A), mRNA.	62					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGTGTGCCTAACATTGCCA	0.612													C	219746954	T	C	219746954	3	2	270	1	0	0	0	0	1	0	0	0	17484	1522	53	3	191	3	WNT10A	2	219746954	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	111120244	219746954	23452419	5	18883											
AGAP1	116987	broad.mit.edu	37	chr2	236659063	236659063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggaagctctccaacgacCtgaaacggtgcacgtactac	12	6	10	13	4	1	1	0	1	1	0	2	4	1	2	2	2	6	3	2	2	5	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr2:236659063C>T	uc002vvs.3	+	5	1202	c.604C>T	c.(604-606)Ctg>Ttg	p.L202L	AGAP1_uc002vvt.3_Silent_p.L202L|AGAP1_uc021vyp.1_Silent_p.L202L	NM_001037131	NP_001032208	Q9UPQ3	AGAP1_HUMAN	Homo sapiens ArfGAP with GTPase domain, ankyrin repeat and PH domain 1 (AGAP1), transcript variant 1, mRNA.	202	Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CTCCAACGACCTGAAACGGTG	0.527													T	236659063	C	T	236659063	2	4	270	1	0	0	0	0	0	0	0	1	366	680	24	2		2	AGAP1	2	236659063	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	16912109	236659063	6540310	6	18884											
FGD5	152273	broad.mit.edu	37	chr3	14862054	14862054	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggaaggtggccggctaTgtcccagaaaccgtccctga	8	8	13	12	2	1	2	0	1	1	1	3	3	3	3	4	4	1	1	4	4	3	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:14862054T>C	uc003bzc.3	+	0	1586	c.1476T>C	c.(1474-1476)taT>taC	p.Y492Y	FGD5_uc011avk.2_Silent_p.Y492Y	NM_152536	NP_689749	Q6ZNL6	FGD5_HUMAN	Homo sapiens FYVE, RhoGEF and PH domain containing 5 (FGD5), mRNA.	492					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGGCCGGCTATGTCCCAGAAA	0.612													C	14862054	T	C	14862054	2	2	270	1	0	0	0	0	0	0	0	1	5885	1471	51	3		3	FGD5	3	14862054	Silent	SNP	T	TCGA-76-6282-01A-11D-1696-08		14862054	183160376	7	18885											
EFHB	151651	broad.mit.edu	37	chr3	19974766	19974766	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaacttcccagagtataTgggtctgatgcgatctggag	13	10	11	7	1	2	2	0	1	2	1	3	4	3	3	1	2	2	1	1	2	5	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:19974766T>A	uc003cbl.4	-	0	941	c.745A>T	c.(745-747)Ata>Tta	p.I249L	EFHB_uc003cbm.3_Missense_Mutation_p.I119L	NM_144715	NP_653316	Q8N7U6	EFHB_HUMAN	Homo sapiens EF-hand domain family, member B (EFHB), mRNA.	249					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						CCAGAGTATATGGGTCTGATG	0.443													A	19974766	T	A	19974766	3	1	270	1	0	0	0	0	1	0	0	0	4984	1464	51	5	1808	5	EFHB	3	19974766	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	5112712	19974766	178047664	8	18886											
BOC	91653	broad.mit.edu	37	chr3	112997000	112997000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccagccaaccagcaccGcctgaccctcaccagacttg	10	6	6	19	1	1	2	1	1	0	1	2	2	2	2	7	0	3	1	7	0	1	2	rs149038528		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr3:112997000G>A	uc003dzx.3	+	9	2219	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	BOC_uc003dzy.3_Missense_Mutation_p.R533H|BOC_uc003dzz.3_Missense_Mutation_p.R534H|BOC_uc003eab.3_Missense_Mutation_p.R234H|BOC_uc003eac.3_5'Flank	NM_033254	NP_150279	Q9BWV1	BOC_HUMAN	Homo sapiens Boc homolog (mouse) (BOC), mRNA.	533	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			AACCAGCACCGCCTGACCCTC	0.567													A	112997000	G	A	112997000	3	1	270	1	0	0	0	0	1	0	0	0	1487	1087	38	1	1628	1	BOC	3	112997000	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	93022234	112997000	85025430	9	18887											
KDR	3791	broad.mit.edu	37	chr4	55956221	55956221	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgataagaggatatttcGtgccgccaggtccctgtgga	8	10	12	11	3	0	1	0	0	0	1	3	4	2	3	4	3	1	0	4	3	2	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:55956221G>A	uc003has.3	-	22	3396	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	KDR_uc003hat.1_Nonsense_Mutation_p.R1032*	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1032	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R1032Q(2)|p.R1032*(2)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGGATATTTCGTGCCGCCAGG	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55956221	G	A	55956221	4	1	270	1	0	0	0	0	0	1	0	0	8197	1153	40	1	1008	1	KDR	4	55956221	Nonsense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		55956221	135198055	10	18888											
PROL1	58503	broad.mit.edu	37	chr4	71275177	71275177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccactctacaggccaagatgGgttccaccaagtcccccacc	10	6	7	18	0	1	1	0	0	1	1	3	1	3	1	7	2	1	1	7	2	3	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:71275177G>T	uc003hfi.3	+	2	306	c.132G>T	c.(130-132)tgG>tgT	p.W44C		NM_021225	NP_067048	Q99935	PROL1_HUMAN	Homo sapiens proline rich, lacrimal 1 (PROL1), mRNA.	44	Pro-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				GGCCAAGATGGGTTCCACCAA	0.502													T	71275177	G	T	71275177	3	4	270	1	0	0	0	0	1	0	0	0	12640	1241	43	4	138	4	PROL1	4	71275177	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	15318956	71275177	119879099	11	18889											
HSD17B13	345275	broad.mit.edu	37	chr4	88239495	88239495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacctgatttagagagcGatagatctcttctctgttgc	8	15	8	10	1	3	3	1	1	3	2	6	5	3	3	1	0	2	1	1	0	2	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr4:88239495G>A	uc003hqo.2	-	1	367	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	HSD17B13_uc010ikk.2_Intron	NM_178135	NP_835236	Q7Z5P4	DHB13_HUMAN	Homo sapiens hydroxysteroid (17-beta) dehydrogenase 13 (HSD17B13), transcript variant A, mRNA.	102						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		TTTAGAGAGCGATAGATCTCT	0.468													A	88239495	G	A	88239495	3	1	270	1	0	0	0	0	1	0	0	0	7437	1058	37	1	622	1	HSD17B13	4	88239495	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	16964318	88239495	102914781	12	18890											
NAIP	4671	broad.mit.edu	37	chr5	70307168	70307168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaatttcctaaacatccaCcacaggaaaaacactgtacc	16	7	3	15	0	0	0	0	0	0	0	2	1	2	1	5	1	3	1	5	1	6	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:70307168C>A	uc003kar.1	-	4	1320	c.602G>T	c.(601-603)gGt>gTt	p.G201V	NAIP_uc003kat.1_Intron|NAIP_uc011crs.1_Missense_Mutation_p.G201V|NAIP_uc003kas.1_Intron	NM_004536	NP_004527	Q13075	BIRC1_HUMAN	Homo sapiens NLR family, apoptosis inhibitory protein (NAIP), transcript variant 1, mRNA.	201					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TAAACATCCACCACAGGAAAA	0.403													A	70307168	C	A	70307168	3	1	270	1	0	0	0	0	1	0	0	0	10223	507	18	4	3661	4	NAIP	5	70307168	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		70307168	110608092	13	18891											
PTCD2	79810	broad.mit.edu	37	chr5	71616252	71616252	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgcatttcggccctcgaatCgagttctcctgcaggcgctg	5	11	11	14	4	1	0	0	0	1	0	5	2	1	0	2	2	2	4	2	2	1	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:71616252C>G	uc003kcb.3	+	0	53	c.43C>G	c.(43-45)Cga>Gga	p.R15G	MRPS27_uc003kca.4_5'Flank|MRPS27_uc003kbz.4_5'Flank|MRPS27_uc011cse.2_5'Flank|MRPS27_uc010iza.3_5'Flank|PTCD2_uc011csf.1_5'UTR|PTCD2_uc003kcc.3_5'UTR|PTCD2_uc011csg.2_5'UTR|PTCD2_uc011csh.2_Missense_Mutation_p.R15G|PTCD2_uc003kcd.3_Non-coding_Transcript	NM_024754	NP_079030	Q8WV60	PTCD2_HUMAN	Homo sapiens pentatricopeptide repeat domain 2 (PTCD2), mRNA.	15										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		GCCCTCGAATCGAGTTCTCCT	0.627													G	71616252	C	G	71616252	3	3	270	1	0	0	0	0	1	0	0	0	12813	876	31	4	45	4	PTCD2	5	71616252	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	1309084	71616252	109299008	14	18892											
DDX41	51428	broad.mit.edu	37	chr5	176942773	176942773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtatttcttccgcacgcGctcatgtcgctcttcagaca	6	13	9	13	4	4	1	2	0	2	1	6	1	5	1	1	1	0	4	1	1	1	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr5:176942773G>A	uc003mho.3	-	5	505	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	DDX41_uc003mhn.3_Missense_Mutation_p.R31C|DDX41_uc003mhp.3_Missense_Mutation_p.R31C|DDX41_uc003mhq.1_5'UTR	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	162					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			ttccgcacgcgctcatgtcgc	0.552													A	176942773	G	A	176942773	3	1	270	1	0	0	0	0	1	0	0	0	4395	1087	38	1	1432	1	DDX41	5	176942773	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	105326521	176942773	3972487	15	18893											
MYLIP	29116	broad.mit.edu	37	chr6	16130808	16130808	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtgcaggcgactgggaatCatagaagttgactattttgg	10	12	14	5	1	1	2	1	1	0	1	1	4	1	3	0	3	1	2	0	3	4	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130808C>G	uc003nbq.3	+	1	345	c.108C>G	c.(106-108)atC>atG	p.I36M	MYLIP_uc003nbr.3_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	36	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GACTGGGAATCATAGAAGTTG	0.468													G	16130808	C	G	16130808	3	3	270	1	0	0	0	0	1	0	0	0	10131	816	29	4	114	4	MYLIP	6	16130808	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		16130808	154984259	16	18894											
MYLIP	29116	broad.mit.edu	37	chr6	16130886	16130886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaaacctgagaaaccggatCtcccagcagatggatgggct	12	7	11	11	1	1	2	0	1	1	2	2	5	1	4	3	3	3	2	3	3	3	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:16130886C>T	uc003nbq.3	+	1	423	c.186C>T	c.(184-186)atC>atT	p.I62I	MYLIP_uc003nbr.3_Intron	NM_013262	NP_037394	Q8WY64	MYLIP_HUMAN	Homo sapiens myosin regulatory light chain interacting protein (MYLIP), mRNA.	62	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			GAAACCGGATCTCCCAGCAGA	0.473													T	16130886	C	T	16130886	2	4	270	1	0	0	0	0	0	0	0	1	10131	903	32	2		2	MYLIP	6	16130886	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	78	16130886	154984181	17	18895											
TNXB	7148	broad.mit.edu	37	chr6	32012858	32012858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaacctgtagggggTgctgggctccaggcctgaga	8	6	19	8	0	0	1	0	1	0	1	1	5	1	3	3	6	2	3	3	6	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:32012858T>C	uc003nzl.2	-	31	11048	c.10846A>G	c.(10846-10848)Acc>Gcc	p.T3616A	TNXB_uc003nzg.1_Missense_Mutation_p.T47A|TNXB_uc003nzh.1_Missense_Mutation_p.T85A	NM_019105	NP_061978	P22105	TENX_HUMAN	Homo sapiens tenascin XB (TNXB), transcript variant XB, mRNA.	3663	Fibronectin type-III 28.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTGTAGGGGGTGCTGGGCTCC	0.642													C	32012858	T	C	32012858	3	2	270	1	0	0	0	0	1	0	0	0	16446	1696	59	3	3919	3	TNXB	6	32012858	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	15881972	32012858	139102209	18	18896											
MLN	4295	broad.mit.edu	37	chr6	33768891	33768891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtctgggaggccagcatgGcagctacatgcaccaccagc	9	5	12	15	1	1	0	0	0	1	0	1	1	1	1	4	3	5	4	4	3	1	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:33768891G>A	uc003off.1	-	1	121	c.50C>T	c.(49-51)gCc>gTc	p.A17V	MLN_uc003ofg.1_Missense_Mutation_p.A17V|MLN_uc011drn.1_Missense_Mutation_p.A17V	NM_002418	NP_002409	P12872	MOTI_HUMAN	Homo sapiens motilin (MLN), transcript variant 1, mRNA.	17					cell-cell signaling|G-protein coupled receptor protein signaling pathway	extracellular region|soluble fraction	hormone activity	p.A16T(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|skin(1)	6						GGCCAGCATGGCAGCTACATG	0.567													A	33768891	G	A	33768891	3	1	270	1	0	0	0	0	1	0	0	0	9706	1203	42	2	313	2	MLN	6	33768891	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	1756033	33768891	137346176	19	18897											
SRPK1	6732	broad.mit.edu	37	chr6	35838178	35838178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccgactctttctccatttCctcaatttcctgcattcgct	5	16	4	16	2	3	0	1	0	2	0	7	1	5	0	4	0	1	2	4	0	1	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr6:35838178C>G	uc003olj.3	-	9	995	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	SRPK1_uc003olh.3_Missense_Mutation_p.E184Q|SRPK1_uc003oli.3_Missense_Mutation_p.E184Q|SRPK1_uc011dtg.2_Missense_Mutation_p.E275Q	NM_003137	NP_003128	Q96SB4	SRPK1_HUMAN	Homo sapiens SRSF protein kinase 1 (SRPK1), transcript variant 1, mRNA.	291	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						TTCTCCATTTCCTCAATTTCC	0.438													G	35838178	C	G	35838178	3	3	270	1	0	0	0	0	1	0	0	0	15255	864	30	4	1124	4	SRPK1	6	35838178	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	2069287	35838178	135276889	20	18898											
VPS41	27072	broad.mit.edu	37	chr7	38798055	38798055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttattatacagatctccaggCcattctcggatcaatgtggc	10	13	8	10	1	3	1	1	0	2	1	5	2	3	2	2	3	1	0	2	3	4	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:38798055C>A	uc003tgy.3	-	17	1475	c.1449G>T	c.(1447-1449)tgG>tgT	p.W483C	VPS41_uc003tgz.3_Missense_Mutation_p.W458C|VPS41_uc010kxn.3_Missense_Mutation_p.W394C	NM_014396	NP_055211	P49754	VPS41_HUMAN	Homo sapiens vacuolar protein sorting 41 homolog (S. cerevisiae) (VPS41), transcript variant 1, mRNA.	483					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GATCTCCAGGCCATTCTCGGA	0.353													A	38798055	C	A	38798055	3	1	270	1	0	0	0	0	1	0	0	0	17312	740	26	4	1163	4	VPS41	7	38798055	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		38798055	120340608	21	18899											
EGFR	1956	broad.mit.edu	37	chr7	55231506	55231506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggccatgaacatcacctGcacaggacgggtaagagccc	12	5	11	13	1	2	2	2	1	0	1	2	3	2	3	3	3	3	2	3	3	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:55231506G>C	uc003tqk.3	+	13	1958	c.1712G>C	c.(1711-1713)tGc>tCc	p.C571S	EGFR_uc003tqi.3_Missense_Mutation_p.C571S|EGFR_uc003tqj.3_Missense_Mutation_p.C571S|EGFR_uc022adm.1_Missense_Mutation_p.C571S|EGFR_uc010kzg.2_Missense_Mutation_p.C526S|EGFR_uc022adn.1_Missense_Mutation_p.C526S|EGFR_uc011kco.2_Missense_Mutation_p.C518S|EGFR_uc011kcp.1_Intron|EGFR_uc011kcq.1_Intron|EGFR_uc003tqn.3_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	571					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACATCACCTGCACAGGACGG	0.557		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55231506	G	C	55231506	3	2	270	1	0	0	0	0	1	0	0	0	5006	1319	46	4	1777	4	EGFR	7	55231506	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	16433451	55231506	103907157	22	18900											
ASNS	440	broad.mit.edu	37	chr7	97483890	97483890	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatagcctctaaaaatattAcccatgggcagcagtagttc	14	10	7	10	0	1	0	0	0	1	0	2	0	1	0	2	1	3	4	2	1	8	6			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:97483890A>G	uc003uot.4	-	10	1744	c.1238_splice	c.e10+1	p.G413_splice	ASNS_uc011kin.2_Splice_Site_p.G330_splice|ASNS_uc011kio.2_Splice_Site_p.G392_splice|ASNS_uc003uou.4_Splice_Site_p.G413_splice|ASNS_uc003uov.4_Splice_Site_p.G413_splice|ASNS_uc003uox.4_Splice_Site_p.G330_splice	NM_133436	NP_001171548	P08243	ASNS_HUMAN	Homo sapiens asparagine synthetase (glutamine-hydrolyzing) (ASNS), transcript variant 1, mRNA.	413	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TAAAAATATTACCCATGGGCA	0.383													G	97483890	A	G	97483890	5	3	270	1	0	0	0	0	0	0	1	0	1053	405	14	3	461	3	ASNS	7	97483890	Splice_Site	SNP	A	TCGA-76-6282-01A-11D-1696-08	42252384	97483890	61654773	23	18901											
OR2A25	392138	broad.mit.edu	37	chr7	143771890	143771890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcctgtgcggatacccacaTtaatgaggtaatggttttgg	9	13	12	7	1	0	1	0	1	0	0	0	2	0	2	2	4	3	2	2	4	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr7:143771890T>C	uc011ktx.2	+	0	578	c.578T>C	c.(577-579)aTt>aCt	p.I193T		NM_001004488	NP_001004488	A4D2G3	O2A25_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 25 (OR2A25), mRNA.	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					GATACCCACATTAATGAGGTA	0.433													C	143771890	T	C	143771890	3	2	270	1	0	0	0	0	1	0	0	0	11054	1493	52	3	580	3	OR2A25	7	143771890	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	46288000	143771890	15366773	24	18902											
IKBKB	3551	broad.mit.edu	37	chr8	42163910	42163910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccaaggagctggatcaggGcagtctttgcacatcattcg	9	10	12	10	1	3	0	2	0	1	0	4	2	3	2	1	3	3	3	1	3	1	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:42163910G>A	uc003xow.2	+	6	713	c.527G>A	c.(526-528)gGc>gAc	p.G176D	IKBKB_uc003xov.3_Missense_Mutation_p.G176D|IKBKB_uc010lxh.2_Missense_Mutation_p.G71D|IKBKB_uc011lco.2_Non-coding_Transcript|IKBKB_uc003xox.2_5'UTR|IKBKB_uc010lxj.2_Intron|IKBKB_uc011lcp.2_Non-coding_Transcript|IKBKB_uc011lcq.2_Missense_Mutation_p.G174D|IKBKB_uc010lxi.2_Non-coding_Transcript|IKBKB_uc011lcr.2_Missense_Mutation_p.G117D	NM_001556	NP_001547	O14920	IKKB_HUMAN	Homo sapiens inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta (IKBKB), transcript variant 1, mRNA.	176	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CTGGATCAGGGCAGTCTTTGC	0.478													A	42163910	G	A	42163910	3	1	270	1	0	0	0	0	1	0	0	0	7669	1203	42	2	549	2	IKBKB	8	42163910	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		42163910	104200112	25	18903											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886131	88886131	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtagcatggaaggtgcattGagtcccactctgactgtctt	8	12	11	10	1	2	2	0	2	2	0	3	3	3	3	1	2	2	3	1	2	2	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:88886131G>C	uc003ydz.3	-	0	166	c.69C>G	c.(67-69)ctC>ctG	p.L23L		NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.	23										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AAGGTGCATTGAGTCCCACTC	0.532													C	88886131	G	C	88886131	2	2	270	1	0	0	0	0	0	0	0	1	4306	1277	45	4		4	DCAF4L2	8	88886131	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08	46722221	88886131	57477891	26	18904											
RIMS2	9699	broad.mit.edu	37	chr8	105001597	105001597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattataatacaattagcCgaatggacagacatcgtgtc	15	10	8	8	2	0	1	0	0	0	1	2	4	0	2	1	1	2	0	1	1	6	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:105001597C>T	uc003yls.3	+	14	2567	c.2326C>T	c.(2326-2328)Cga>Tga	p.R776*	RIMS2_uc003ylp.3_Nonsense_Mutation_p.R998*|RIMS2_uc003ylw.2_Nonsense_Mutation_p.R790*|RIMS2_uc003ylq.3_Nonsense_Mutation_p.R790*|RIMS2_uc003ylr.3_Nonsense_Mutation_p.R837*	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	1060					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.R776*(1)|p.R776Q(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TACAATTAGCCGAATGGACAG	0.368										HNSCC(12;0.0054)			T	105001597	C	T	105001597	4	4	270	1	0	0	0	0	0	1	0	0	13459	644	23	1	3184	1	RIMS2	8	105001597	Nonsense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	16115466	105001597	41362425	27	18905											
COLEC10	10584	broad.mit.edu	37	chr8	120101985	120101985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtgggacgcatggggcCgaaaggtaactaaaatgatg	15	6	14	6	2	0	1	0	1	0	0	0	3	0	2	1	4	1	2	1	4	5	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr8:120101985C>T	uc003yoo.3	+	1	312	c.215C>T	c.(214-216)cCg>cTg	p.P72L		NM_006438	NP_006429	Q9Y6Z7	COL10_HUMAN	Homo sapiens collectin sub-family member 10 (C-type lectin) (COLEC10), mRNA.	72	Collagen-like.					collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			CGCATGGGGCCGAAAGGTAAC	0.413													T	120101985	C	T	120101985	3	4	270	1	0	0	0	0	1	0	0	0	3741	652	23	1	221	1	COLEC10	8	120101985	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	15100388	120101985	26262037	28	18906											
FAM75A3	727830	broad.mit.edu	37	chr9	40702866	40702866	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcaccaggcccaatgAccacctcagtctcctcccta	9	7	4	21	0	3	1	2	1	1	0	5	1	4	1	8	1	0	0	8	1	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr9:40702866A>T	uc010mmj.3	+	3	552	c.523A>T	c.(523-525)Acc>Tcc	p.T175S		NM_001083124	NP_001076593	Q5VYP0	F75A3_HUMAN	Homo sapiens family with sequence similarity 75, member A3 (FAM75A3), mRNA.	175	Pro-rich.					integral to membrane				kidney(1)|large_intestine(2)|lung(18)|ovary(3)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		AGGCCCAATGACCACCTCAGT	0.592													T	40702866	A	T	40702866	3	4	270	1	0	0	0	0	1	0	0	0	5671	275	10	5	537	5	FAM75A3	9	40702866	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08		40702866	100510565	29	18907											
OR52B4	143496	broad.mit.edu	37	chr11	4389252	4389252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatccagggagatgtcccCagcacggaaccagaagatag	14	4	12	11	2	0	3	0	0	0	3	2	6	2	4	4	2	2	1	4	2	3	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:4389252C>T	uc010qye.2	-	0	365	c.274G>A	c.(274-276)Ggg>Agg	p.G92R		NM_001005161	NP_001005161	Q8NGK2	O52B4_HUMAN	Homo sapiens olfactory receptor, family 52, subfamily B, member 4 (OR52B4), mRNA.	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGATGTCCCCAGCACGGAAC	0.527													T	4389252	C	T	4389252	3	4	270	1	0	0	0	0	1	0	0	0	11188	594	21	2	674	2	OR52B4	11	4389252	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		4389252	130617264	30	18908											
ANO5	203859	broad.mit.edu	37	chr11	22296134	22296134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctttattgttgcatttaCgtcagacatcattccccgtc	7	15	7	12	2	2	1	2	0	0	1	4	1	3	1	3	1	2	2	3	1	2	7			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:22296134C>T	uc001mqi.2	+	19	2572	c.2255C>T	c.(2254-2256)aCg>aTg	p.T752M	ANO5_uc001mqj.2_Missense_Mutation_p.T751M	NM_213599	NP_998764	Q75V66	ANO5_HUMAN	Homo sapiens anoctamin 5 (ANO5), transcript variant 1, mRNA.	752						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCATTTACGTCAGACATC	0.363													T	22296134	C	T	22296134	3	4	270	1	0	0	0	0	1	0	0	0	700	536	19	1	2333	1	ANO5	11	22296134	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	17906882	22296134	112710382	31	18909											
OR8K3	219473	broad.mit.edu	37	chr11	56085826	56085826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaatgaattcattcttaCgggaatcacagatatcgctg	12	12	10	7	2	3	3	2	2	1	1	4	4	3	4	0	2	1	1	0	2	5	4	rs149952066		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:56085826C>T	uc010rjf.2	+	0	44	c.44C>T	c.(43-45)aCg>aTg	p.T15M		NM_001005202	NP_001005202	Q8NH51	OR8K3_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily K, member 3 (OR8K3), mRNA.	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					TTCATTCTTACGGGAATCACA	0.423													T	56085826	C	T	56085826	3	4	270	1	0	0	0	0	1	0	0	0	11320	536	19	1	46	1	OR8K3	11	56085826	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	33789692	56085826	78920690	32	18910											
MS4A12	54860	broad.mit.edu	37	chr11	60264794	60264794	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgatacttaggacataatGatgtcatccaagccaacaag	15	10	8	8	0	1	2	1	2	0	0	2	3	2	3	2	1	3	0	2	1	6	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:60264794G>C	uc001npr.3	+	1	60	c.3G>C	c.(1-3)atG>atC	p.M1I	MS4A12_uc009ynb.3_Missense_Mutation_p.M1I|MS4A12_uc021qkb.1_Missense_Mutation_p.M1I	NM_017716	NP_060186	Q9NXJ0	M4A12_HUMAN	Homo sapiens membrane-spanning 4-domains, subfamily A, member 12 (MS4A12), transcript variant 1, mRNA.	1						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						AGGACATAATGATGTCATCCA	0.383													C	60264794	G	C	60264794	3	2	270	1	0	0	0	0	1	0	0	0	9932	1290	45	4	5	4	MS4A12	11	60264794	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	4178968	60264794	74741722	33	18911											
PANX1	24145	broad.mit.edu	37	chr11	93911644	93911644	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttgaagtttatcatggAagaacttgacaaagtttaca	16	12	8	5	0	1	4	1	2	0	2	1	5	1	5	0	1	2	2	0	1	6	6			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:93911644A>T	uc001per.3	+	2	816	c.431A>T	c.(430-432)gAa>gTa	p.E144V	PANX1_uc001peq.3_Missense_Mutation_p.E144V	NM_015368	NP_056183	Q96RD7	PANX1_HUMAN	Homo sapiens pannexin 1 (PANX1), mRNA.	144					positive regulation of interleukin-1 beta secretion|protein hexamerization|synaptic transmission	bleb|endoplasmic reticulum membrane|gap junction|integral to membrane	calcium channel activity|gap junction hemi-channel activity|leak channel activity|receptor binding			endometrium(2)|large_intestine(2)|lung(13)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TTTATCATGGAAGAACTTGAC	0.502													T	93911644	A	T	93911644	3	4	270	1	0	0	0	0	1	0	0	0	11496	246	9	5	441	5	PANX1	11	93911644	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	33646850	93911644	41094872	34	18912											
UBE4A	9354	broad.mit.edu	37	chr11	118255613	118255613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttttcctccgctttcttAacctgctaatgaatgatgcc	8	15	5	13	1	1	2	0	2	1	0	3	2	3	2	4	0	3	2	4	0	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr11:118255613A>T	uc001psw.3	+	14	2500	c.2365A>T	c.(2365-2367)Aac>Tac	p.N789Y	UBE4A_uc001psv.3_Missense_Mutation_p.N796Y	NM_001204077	NP_001191006	Q14139	UBE4A_HUMAN	Homo sapiens ubiquitination factor E4A (UBE4A), transcript variant 2, mRNA.	789					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		CCGCTTTCTTAACCTGCTAAT	0.373													T	118255613	A	T	118255613	3	4	270	1	0	0	0	0	1	0	0	0	16984	362	13	5	2440	5	UBE4A	11	118255613	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	24343969	118255613	16750903	35	18913											
ITPR2	3709	broad.mit.edu	37	chr12	26868282	26868282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagaagtagctgattggcGcaaggtcgtacgaaggaaaa	15	6	14	6	3	0	2	0	1	0	1	1	4	0	3	0	3	3	5	0	3	7	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr12:26868282G>A	uc001rhg.3	-	7	1222	c.805C>T	c.(805-807)Cgc>Tgc	p.R269C		NM_002223	NP_002214	Q14571	ITPR2_HUMAN	Homo sapiens inositol 1,4,5-trisphosphate receptor, type 2 (ITPR2), mRNA.	269	Inositol-1,4,5-triphosphate binding (By similarity).|MIR 3.				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGATTGGCGCAAGGTCGTA	0.363													A	26868282	G	A	26868282	3	1	270	1	0	0	0	0	1	0	0	0	7979	1087	38	1	7500	1	ITPR2	12	26868282	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		26868282	106983613	36	18914											
MTUS2	23281	broad.mit.edu	37	chr13	29600584	29600584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcacgcttgttgaacacGtcccccaaagtgcctgacaa	11	8	9	13	2	0	2	0	2	0	0	1	2	1	2	3	0	3	3	3	0	3	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr13:29600584G>A	uc001usl.4	+	0	1837	c.1779G>A	c.(1777-1779)acG>acA	p.T593T		NM_001033602	NP_001028774	Q5JR59	MTUS2_HUMAN	Homo sapiens microtubule associated tumor suppressor candidate 2 (MTUS2), transcript variant 1, mRNA.	583						cytoplasm|microtubule	microtubule binding|protein homodimerization activity	p.T593T(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TGTTGAACACGTCCCCCAAAG	0.552													A	29600584	G	A	29600584	2	1	270	1	0	0	0	0	0	0	0	1	10042	1132	40	1		1	MTUS2	13	29600584	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		29600584	85569294	37	18915											
OTX2	5015	broad.mit.edu	37	chr14	57269020	57269020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgttttgacctccattCtgctgttgttgctgttgttg	3	21	9	8	0	1	1	0	1	1	0	2	1	2	1	2	0	2	7	2	0	0	8			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr14:57269020C>A	uc001xcq.3	-	4	601	c.327G>T	c.(325-327)caG>caT	p.Q109H	OTX2_uc001xcp.3_Missense_Mutation_p.Q101H|OTX2_uc021rtm.1_5'UTR|OTX2_uc010aou.3_Missense_Mutation_p.Q101H	NM_021728	NP_068374	P32243	OTX2_HUMAN	Homo sapiens orthodenticle homeobox 2 (OTX2), transcript variant 1, mRNA.	101					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding	p.Q109P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					GACCTCCATTCTGCTGTTGTT	0.448													A	57269020	C	A	57269020	3	1	270	1	0	0	0	0	1	0	0	0	11397	912	32	4	570	4	OTX2	14	57269020	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		57269020	50080520	38	18916											
VPS18	57617	broad.mit.edu	37	chr15	41193044	41193044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgcccgtggccggccGgactcactactggcctatct	5	10	11	15	3	2	0	1	0	1	0	2	1	2	1	4	4	2	1	4	4	3	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:41193044G>A	uc001zne.3	+	3	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P		NM_020857	NP_065908	Q9P253	VPS18_HUMAN	Homo sapiens vacuolar protein sorting 18 homolog (S. cerevisiae) (VPS18), mRNA.	676					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647													A	41193044	G	A	41193044	2	1	270	1	0	0	0	0	0	0	0	1	17296	1103	39	1		1	VPS18	15	41193044	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		41193044	61338348	39	18917											
SLC27A2	11001	broad.mit.edu	37	chr15	50475097	50475097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgaaggtgctgctggtgtCgccaggtgagccccgaggat	6	7	18	10	3	0	1	0	1	0	0	1	4	0	2	3	5	3	2	3	5	1	0			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:50475097C>T	uc001zxw.3	+	0	705	c.473C>T	c.(472-474)tCg>tTg	p.S158L	SLC27A2_uc010bes.3_Missense_Mutation_p.S158L	NM_003645	NP_003636	O14975	S27A2_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 2 (SLC27A2), transcript variant 1, mRNA.	158					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTGCTGGTGTCGCCAGGTGAG	0.652													T	50475097	C	T	50475097	3	4	270	1	0	0	0	0	1	0	0	0	14620	893	31	1	475	1	SLC27A2	15	50475097	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	9282053	50475097	52056295	40	18918											
ITGA11	22801	broad.mit.edu	37	chr15	68641185	68641185	+	Frame_Shift_Del	DEL	A	A	-																															tacctccaccacgtgcgaggAaaagcccgtctgtgacatct																										TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:68641185delA	uc010bib.3	-	9	1201	c.1114delT	c.(1114-1116)tccfs	p.S372fs	ITGA11_uc002ari.3_Frame_Shift_Del_p.S372fs	NM_001004439	NP_001004439	Q9UKX5	ITA11_HUMAN	Homo sapiens integrin, alpha 11 (ITGA11), mRNA.	372					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	ACGTGCGAGGAAAAGCCCGTC	0.562													-	68641185	A	-	68641185	7	5	270	1	0	1	0	1	0	0	0	0	7932	246	9	0	2536	0	ITGA11	15	68641185	Frame_Shift_Del	DEL	A	TCGA-76-6282-01A-11D-1696-08	18166088	68641185	33890207	41	18919											
TARSL2	123283	broad.mit.edu	37	chr15	102242566	102242566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgtttccatttccggattgCcctcccaatatgttgaggaa	9	14	8	10	1	0	1	0	1	0	0	3	3	3	3	4	2	1	2	4	2	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr15:102242566C>T	uc002bxm.3	-	8	1152	c.1097G>A	c.(1096-1098)gGc>gAc	p.G366D	TARSL2_uc002bxl.3_5'UTR|TARSL2_uc010usi.2_Non-coding_Transcript	NM_152334	NP_689547	A2RTX5	SYTC2_HUMAN	Homo sapiens threonyl-tRNA synthetase-like 2 (TARSL2), mRNA.	366					threonyl-tRNA aminoacylation	cytoplasm	ATP binding|threonine-tRNA ligase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|skin(1)|urinary_tract(1)	29	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TTCCGGATTGCCCTCCCAATA	0.353													T	102242566	C	T	102242566	3	4	270	1	0	0	0	0	1	0	0	0	15658	739	26	2	1355	2	TARSL2	15	102242566	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	33601381	102242566	288826	42	18920											
MSLNL	401827	broad.mit.edu	37	chr16	830269	830269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtctgcttgaggccagaGgacatggaggaacttctgga	9	8	17	7	0	2	2	0	1	2	1	2	6	2	6	1	7	2	1	1	7	1	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:830269G>A	uc002cjz.1	-	2	732	c.732C>T	c.(730-732)tcC>tcT	p.S244S		NM_001025190	NP_001020361	Q96KJ4	MSLNL_HUMAN	Homo sapiens mesothelin-like (MSLNL), mRNA.	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGAGGCCAGAGGACATGGAGG	0.677													A	830269	G	A	830269	2	1	270	1	0	0	0	0	0	0	0	1	9958	987	35	2		2	MSLNL	16	830269	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		830269	89524484	43	18921											
SRRM2	23524	broad.mit.edu	37	chr16	2812977	2812977	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccacccagacgcagtcgCtccagttcttctccgccacc	7	7	7	20	4	2	1	0	0	2	1	5	1	3	1	6	0	0	3	6	0	0	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2812977C>T	uc002crk.3	+	10	2997	c.2448C>T	c.(2446-2448)cgC>cgT	p.R816R	SRRM2_uc002crj.1_Silent_p.R720R|SRRM2_uc002crl.1_Silent_p.R816R|SRRM2_uc010bsu.1_Silent_p.R720R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	816	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding	p.R816H(1)|p.S815I(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GACGCAGTCGCTCCAGTTCTT	0.498													T	2812977	C	T	2812977	2	4	270	1	0	0	0	0	0	0	0	1	15265	784	28	2		2	SRRM2	16	2812977	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	1982708	2812977	87541776	44	18922											
SRRM2	23524	broad.mit.edu	37	chr16	2813966	2813966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgactcttcttcatatcCtacagtggactcgaattctc	8	15	6	12	1	5	1	1	1	4	0	8	3	6	2	1	1	1	0	1	1	3	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:2813966C>G	uc002crk.3	+	10	3986	c.3437C>G	c.(3436-3438)cCt>cGt	p.P1146R	SRRM2_uc002crj.1_Missense_Mutation_p.P1050R|SRRM2_uc002crl.1_Missense_Mutation_p.P1146R|SRRM2_uc010bsu.1_Missense_Mutation_p.P1050R	NM_016333	NP_057417	Q9UQ35	SRRM2_HUMAN	Homo sapiens serine/arginine repetitive matrix 2 (SRRM2), mRNA.	1146	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCTTCATATCCTACAGTGGAC	0.468													G	2813966	C	G	2813966	3	3	270	1	0	0	0	0	1	0	0	0	15265	681	24	4	3475	4	SRRM2	16	2813966	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	989	2813966	87540787	45	18923											
GRIN2A	2903	broad.mit.edu	37	chr16	9857538	9857538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatcgtaggaatgctgaCggctaatccttagcttgttc	8	15	10	8	2	0	1	0	1	0	0	3	2	1	2	1	2	2	6	1	2	5	6			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr16:9857538C>T	uc010uym.2	-	13	4173	c.3863G>A	c.(3862-3864)cGt>cAt	p.R1288H	GRIN2A_uc002czo.4_Missense_Mutation_p.R1288H|GRIN2A_uc010uyn.2_Intron|GRIN2A_uc002czr.4_Intron	NM_000833	NP_001127879	Q12879	NMDE1_HUMAN	Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2A (GRIN2A), transcript variant 2, mRNA.	1288					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GGAATGCTGACGGCTAATCCT	0.537													T	9857538	C	T	9857538	3	4	270	1	0	0	0	0	1	0	0	0	6834	536	19	1	535	1	GRIN2A	16	9857538	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	7043572	9857538	80497215	46	18924											
MYH13	8735	broad.mit.edu	37	chr17	10233822	10233822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccaaaagtcccaggaGcccagctttgaaaaacacct	13	7	6	15	0	0	1	0	1	0	0	3	2	3	2	5	1	3	1	5	1	4	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:10233822G>T	uc002gmk.1	-	20	2407	c.2317C>A	c.(2317-2319)Ctc>Atc	p.L773I		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	773	Actin-binding (By similarity).|Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGTCCCAGGAGCCCAGCTTTG	0.557													T	10233822	G	T	10233822	3	4	270	1	0	0	0	0	1	0	0	0	10108	971	34	4	3583	4	MYH13	17	10233822	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		10233822	70961388	47	18925											
KRT33A	3883	broad.mit.edu	37	chr17	39506758	39506758	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgaccgctcccggaTgaggttctccagctccgcgt	4	10	12	15	4	1	2	0	2	1	0	4	3	3	3	4	2	2	4	4	2	0	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:39506758T>G	uc002hwk.1	-	0	299	c.262A>C	c.(262-264)Atc>Ctc	p.I88L		NM_004138	NP_004129	O76009	KT33A_HUMAN	Homo sapiens keratin 33A (KRT33A), mRNA.	88	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CGCTCCCGGATGAGGTTCTCC	0.612													G	39506758	T	G	39506758	3	3	270	1	0	0	0	0	1	0	0	0	8527	1464	51	5	980	5	KRT33A	17	39506758	Missense_Mutation	SNP	T	TCGA-76-6282-01A-11D-1696-08	29272936	39506758	41688452	48	18926											
OTOP2	92736	broad.mit.edu	37	chr17	72923832	72923832	+	Frame_Shift_Del	DEL	C	C	-																															gtggtggatgaatctgtgcaCcaatcccactcctacagcag																										TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr17:72923832delC	uc010wrp.2	+	4	674	c.582delC	c.(580-582)cacfs	p.H194fs	OTOP2_uc002jmf.1_3'UTR	NM_178160	NP_835454	Q7RTS6	OTOP2_HUMAN	Homo sapiens otopetrin 2 (OTOP2), mRNA.	194						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					AATCTGTGCACCAATCCCACT	0.582													-	72923832	C	-	72923832	7	5	270	1	0	1	0	1	0	0	0	0	11382	506	18	0	596	0	OTOP2	17	72923832	Frame_Shift_Del	DEL	C	TCGA-76-6282-01A-11D-1696-08	33417074	72923832	8271378	49	18927											
DSC1	1823	broad.mit.edu	37	chr18	28723628	28723628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtatactcacagaagtttCtgtgaaagatggtggattgt	12	13	12	4	0	2	3	1	1	1	2	2	4	2	4	0	3	1	2	0	3	4	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr18:28723628C>T	uc002kwn.3	-	7	1328	c.1066G>A	c.(1066-1068)Gaa>Aaa	p.E356K	DSC1_uc002kwm.3_Missense_Mutation_p.E356K	NM_024421	NP_077739	Q08554	DSC1_HUMAN	Homo sapiens desmocollin 1 (DSC1), transcript variant Dsc1a, mRNA.	356	Cadherin 3.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			ACAGAAGTTTCTGTGAAAGAT	0.358													T	28723628	C	T	28723628	3	4	270	1	0	0	0	0	1	0	0	0	4804	922	32	2	1694	2	DSC1	18	28723628	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		28723628	49353620	50	18928											
TNFSF9	8744	broad.mit.edu	37	chr19	6535006	6535006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagcttacccagggcGccacagtcttgggactcttc	6	9	11	15	1	2	0	0	0	2	0	3	1	2	1	3	3	2	2	3	3	1	3			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:6535006G>A	uc002mfh.2	+	2	732	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_003811	NP_003802	P41273	TNFL9_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 9 (TNFSF9), mRNA.	232					apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	p.G231G(2)		central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TACCCAGGGCGCCACAGTCTT	0.662													A	6535006	G	A	6535006	3	1	270	1	0	0	0	0	1	0	0	0	16412	1087	38	1	704	1	TNFSF9	19	6535006	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08		6535006	52593977	51	18929											
MUC16	94025	broad.mit.edu	37	chr19	9049297	9049297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atagttgaagttggaatggcCgaacttgtctgtgcttcagg	9	13	13	6	1	2	1	1	1	1	0	2	3	2	2	1	3	2	3	1	3	4	5			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:9049297C>T	uc002mkp.3	-	4	32538	c.32334G>A	c.(32332-32334)tcG>tcA	p.S10778S		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	10780	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						TTGGAATGGCCGAACTTGTCT	0.468													T	9049297	C	T	9049297	2	4	270	1	0	0	0	0	0	0	0	1	10049	639	23	1		1	MUC16	19	9049297	Silent	SNP	C	TCGA-76-6282-01A-11D-1696-08	2514291	9049297	50079686	52	18930											
ZNF536	9745	broad.mit.edu	37	chr19	31039659	31039659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaactgcaaagaccaaGcccgggaggcgagtaagatg	14	4	13	10	2	1	2	1	0	0	2	1	4	1	3	2	2	3	2	2	2	4	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:31039659G>T	uc002nsu.1	+	3	3271	c.3133G>T	c.(3133-3135)Gcc>Tcc	p.A1045S	ZNF536_uc010edd.1_Missense_Mutation_p.A1045S	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1045					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1044*(1)|p.A1045A(1)|p.A1045V(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CAAAGACCAAGCCCGGGAGGC	0.537													T	31039659	G	T	31039659	3	4	270	1	0	0	0	0	1	0	0	0	18075	971	34	4	3143	4	ZNF536	19	31039659	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	21990362	31039659	28089324	53	18931											
CD22	933	broad.mit.edu	37	chr19	35828889	35828889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccaatgacgtgggccCgggaaggtcggaagaagtgt	9	7	17	8	3	1	2	0	1	1	1	3	4	1	4	2	5	0	0	2	5	4	0			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:35828889C>T	uc010edt.3	+	4	1034	c.950C>T	c.(949-951)cCg>cTg	p.P317L	CD22_uc010edu.3_Missense_Mutation_p.P317L|CD22_uc010edv.3_Missense_Mutation_p.P317L|CD22_uc002nzb.4_Intron|CD22_uc010xst.2_Missense_Mutation_p.P145L|CD22_uc010edx.3_Non-coding_Transcript	NM_001771	NP_001762	P20273	CD22_HUMAN	Homo sapiens CD22 molecule (CD22), transcript variant 1, mRNA.	317	Ig-like C2-type 2.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GACGTGGGCCCGGGAAGGTCG	0.602													T	35828889	C	T	35828889	3	4	270	1	0	0	0	0	1	0	0	0	3015	652	23	1	964	1	CD22	19	35828889	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08	4789230	35828889	23300094	54	18932											
SHKBP1	92799	broad.mit.edu	37	chr19	41096902	41096902	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctccactcagcctccagcaAcacctccttgtctggccacc	7	8	5	21	0	2	0	1	0	1	0	5	0	5	0	8	1	3	1	8	1	1	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr19:41096902A>G	uc002oob.3	+	17	1962	c.1913A>G	c.(1912-1914)aAc>aGc	p.N638S	SHKBP1_uc002ooc.3_Missense_Mutation_p.N613S|SHKBP1_uc002ooe.3_Missense_Mutation_p.N475S|SHKBP1_uc010xvm.2_Missense_Mutation_p.N418S|SHKBP1_uc010xvn.2_Missense_Mutation_p.N516S|LTBP4_uc002oog.1_5'Flank	NM_138392	NP_612401	Q8TBC3	SHKB1_HUMAN	Homo sapiens SH3KBP1 binding protein 1 (SHKBP1), mRNA.	638						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCCTCCAGCAACACCTCCTTG	0.662													G	41096902	A	G	41096902	3	3	270	1	0	0	0	0	1	0	0	0	14378	43	2	3	1983	3	SHKBP1	19	41096902	Missense_Mutation	SNP	A	TCGA-76-6282-01A-11D-1696-08	5268013	41096902	18032081	55	18933											
PLCG1	5335	broad.mit.edu	37	chr20	39794468	39794468	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacacgctctctttctggTaacacttcccatgcagatgc	9	12	6	14	1	2	1	0	0	2	1	4	1	3	1	1	1	4	3	1	1	2	4			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr20:39794468T>C	uc002xjp.1	+	16	1920	c.1799_splice	c.e16+2	p.W600_splice	PLCG1_uc002xjo.1_Splice_Site_p.W600_splice|PLCG1_uc010zwe.1_Splice_Site_p.W226_splice|PLCG1_uc010ggf.3_5'Flank	NM_182811	NP_877963	P19174	PLCG1_HUMAN	Homo sapiens phospholipase C, gamma 1 (PLCG1), transcript variant 2, mRNA.	600	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CTCTTTCTGGTAACACTTCCC	0.522													C	39794468	T	C	39794468	5	2	270	1	0	0	0	0	0	0	1	0	12112	1652	57	3	1863	3	PLCG1	20	39794468	Splice_Site	SNP	T	TCGA-76-6282-01A-11D-1696-08		39794468	23231052	56	18934											
TPTE	7179	broad.mit.edu	37	chr21	10933879	10933879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttacagtgaatcgctaCgatgttttcaagatcttgag	10	15	8	8	2	2	3	1	2	1	1	4	4	3	3	1	0	2	2	1	0	4	6	rs149228869		TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:10933879C>T	uc002yip.1	-	16	1368	c.1000G>A	c.(1000-1002)Gta>Ata	p.V334I	TPTE_uc002yis.1_Non-coding_Transcript|TPTE_uc002yiq.1_Missense_Mutation_p.V316I|TPTE_uc002yir.1_Missense_Mutation_p.V296I|TPTE_uc010gkv.1_Missense_Mutation_p.V196I	NM_199261	NP_954870	P56180	TPTE_HUMAN	Homo sapiens transmembrane phosphatase with tensin homology (TPTE), transcript variant 1, mRNA.	334	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGAATCGCTACGATGTTTTCA	0.313													T	10933879	C	T	10933879	3	4	270	1	0	0	0	0	1	0	0	0	16531	536	19	1	687	1	TPTE	21	10933879	Missense_Mutation	SNP	C	TCGA-76-6282-01A-11D-1696-08		10933879	37196016	57	18935											
RRP1B	23076	broad.mit.edu	37	chr21	45107849	45107849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacttggagttgtgcccGtcaatggcagtggcctgtcc	7	10	14	10	1	1	0	1	0	0	0	2	2	2	2	3	4	2	2	3	4	2	2			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr21:45107849G>A	uc002zdk.3	+	12	1708	c.1594G>A	c.(1594-1596)Gtc>Atc	p.V532I	RRP1B_uc002zdl.3_Missense_Mutation_p.V65I	NM_015056	NP_055871	Q14684	RRP1B_HUMAN	Homo sapiens ribosomal RNA processing 1 homolog B (S. cerevisiae) (RRP1B), mRNA.	532					rRNA processing	cytosol|nucleolus|preribosome, small subunit precursor	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(1)	21				STAD - Stomach adenocarcinoma(101;0.178)		AGTTGTGCCCGTCAATGGCAG	0.647													A	45107849	G	A	45107849	3	1	270	1	0	0	0	0	1	0	0	0	13779	1145	40	1	1644	1	RRP1B	21	45107849	Missense_Mutation	SNP	G	TCGA-76-6282-01A-11D-1696-08	34173970	45107849	3022046	58	18936											
RGL4	266747	broad.mit.edu	37	chr22	24034585	24034585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttactatcagcccccGcaacggtcatctttccggat	8	12	7	14	3	4	0	3	0	1	0	5	1	5	1	3	2	3	2	3	2	3	4	rs141395325	byFrequency	TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:24034585G>A	uc002zxo.3	+	1	1500	c.243G>A	c.(241-243)ccG>ccA	p.P81P	GUSBP11_uc002zxh.4_Non-coding_Transcript|GUSBP11_uc002zxi.4_Non-coding_Transcript|GUSBP11_uc002zxk.4_Intron|GUSBP11_uc010gua.3_Intron|GUSBP11_uc002zxl.4_Intron|GUSBP11_uc011aiz.2_Intron|GUSBP11_uc002zxm.3_Intron|RGL4_uc002zxn.3_Silent_p.P81P|RGL4_uc002zxp.1_5'UTR|RGL4_uc002zxq.3_5'UTR			Q8IZJ4	RGDSR_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 4 (RGL4), mRNA.	81					small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle	guanyl-nucleotide exchange factor activity	p.P81Q(1)		endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(3)	15						ATCAGCCCCCGCAACGGTCAT	0.552													A	24034585	G	A	24034585	2	1	270	1	0	0	0	0	0	0	0	1	13367	1074	38	1		1	RGL4	22	24034585	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08		24034585	27269981	59	18937											
MYO18B	84700	broad.mit.edu	37	chr22	26423542	26423542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaatcccacgacttgcGggtgacggtggcgagcgaac	9	5	15	12	5	0	1	0	1	0	0	1	5	1	2	2	4	3	0	2	4	2	1			TCGA-76-6282-01A-11D-1696-08	TCGA-76-6282-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c7f63d2-a2a4-42c3-928b-319695a66443	6223ac60-7bde-4229-ae1e-af4c3c2a6667	g.chr22:26423542G>A	uc003abz.1	+	42	7852	c.7602G>A	c.(7600-7602)gcG>gcA	p.A2534A	MYO18B_uc003aca.1_Silent_p.A2415A|MYO18B_uc010guy.1_Silent_p.A2416A|MYO18B_uc010guz.1_Silent_p.A2414A|MYO18B_uc011aka.1_Silent_p.A1688A|MYO18B_uc011akb.1_Silent_p.A2047A|MYO18B_uc010gva.1_Silent_p.A517A|MYO18B_uc010gvb.1_Non-coding_Transcript	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	2534						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CACGACTTGCGGGTGACGGTG	0.572													A	26423542	G	A	26423542	2	1	270	1	0	0	0	0	0	0	0	1	10142	1103	39	1		1	MYO18B	22	26423542	Silent	SNP	G	TCGA-76-6282-01A-11D-1696-08	2388957	26423542	24881024	60	18938											
VPS13D	55187	broad.mit.edu	37	chr1	12414081	12414081	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagattatatgccctcaaAcatattttctgacagtgcaa	13	13	5	10	0	2	2	1	1	1	1	3	2	3	2	2	0	3	1	2	0	5	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:12414081A>G	uc001atv.3	+	46	9623	c.9482A>G	c.(9481-9483)aAc>aGc	p.N3161S	VPS13D_uc001atw.3_Missense_Mutation_p.N3136S|VPS13D_uc001atx.3_Missense_Mutation_p.N2348S	NM_015378	NP_056193	Q5THJ4	VP13D_HUMAN	Homo sapiens vacuolar protein sorting 13 homolog D (S. cerevisiae) (VPS13D), transcript variant 1, mRNA.	3160					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATGCCCTCAAACATATTTTCT	0.363													G	12414081	A	G	12414081	3	3	271	1	0	0	0	0	1	0	0	0	17294	43	2	3	9664	3	VPS13D	1	12414081	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		12414081	236836540	1	18939											
HSPB7	27129	broad.mit.edu	37	chr1	16342135	16342135	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtatgcgggtgacgccgTgcccggatagtgaggctgcc	5	9	16	11	4	1	2	0	2	1	0	1	3	1	3	3	3	3	2	3	3	2	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:16342135T>C	uc001axr.2	-	2	1295	c.732A>G	c.(730-732)gcA>gcG	p.A244A	HSPB7_uc001axo.2_Silent_p.A151A|HSPB7_uc001axp.2_Silent_p.A234A|HSPB7_uc001axq.2_Silent_p.A243A|HSPB7_uc001axs.2_Silent_p.A226A	NM_014424	NP_055239	Q9UBY9	HSPB7_HUMAN	Homo sapiens heat shock 27kDa protein family, member 7 (cardiovascular) (HSPB7), mRNA.	151					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GGTGACGCCGTGCCCGGATAG	0.642													C	16342135	T	C	16342135	2	2	271	1	0	0	0	0	0	0	0	1	7480	1683	59	3		3	HSPB7	1	16342135	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	3928054	16342135	232908486	2	18940											
EPHA8	2046	broad.mit.edu	37	chr1	22927421	22927421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaggaggggtaccgcCtgcccgcacccatgggctgc	5	6	16	14	2	0	0	0	0	0	0	0	2	0	2	4	5	3	3	4	5	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:22927421C>T	uc001bfx.1	+	14	2694	c.2569C>T	c.(2569-2571)Ctg>Ttg	p.L857L		NM_020526	NP_065387	P29322	EPHA8_HUMAN	Homo sapiens EPH receptor A8 (EPHA8), transcript variant 1, mRNA.	857	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGGGTACCGCCTGCCCGCACC	0.697													T	22927421	C	T	22927421	2	4	271	1	0	0	0	0	0	0	0	1	5214	680	24	2		2	EPHA8	1	22927421	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	6585286	22927421	226323200	3	18941											
PHACTR4	65979	broad.mit.edu	37	chr1	28818258	28818258	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcaagattatgaccggCgagccgacaaaccttggacc	12	7	10	12	3	1	2	1	1	0	1	1	5	1	3	4	2	3	1	4	2	3	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:28818258C>T	uc001bpy.3	+	10	2240	c.2005C>T	c.(2005-2007)Cga>Tga	p.R669*	PHACTR4_uc001bpv.1_Non-coding_Transcript|PHACTR4_uc001bpw.3_Nonsense_Mutation_p.R659*|PHACTR4_uc001bpx.3_Nonsense_Mutation_p.R643*	NM_023923	NP_076412	Q8IZ21	PHAR4_HUMAN	Homo sapiens phosphatase and actin regulator 4 (PHACTR4), transcript variant 2, mRNA.	659							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TTATGACCGGCGAGCCGACAA	0.453													T	28818258	C	T	28818258	4	4	271	1	0	0	0	0	0	1	0	0	11889	760	27	1	2067	1	PHACTR4	1	28818258	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5890837	28818258	220432363	4	18942											
IPP	3652	broad.mit.edu	37	chr1	46165793	46165793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctccagaaacatacagaaGaccattgactgccacaacac	17	5	5	14	0	0	4	0	1	0	3	1	4	1	4	4	0	4	0	4	0	4	2	rs147854966		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:46165793G>C	uc001cou.3	-	8	1867	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	IPP_uc001cos.4_Missense_Mutation_p.L534V	NM_005897	NP_005888	Q9Y573	IPP_HUMAN	Homo sapiens intracisternal A particle-promoted polypeptide (IPP), transcript variant 1, mRNA.	534						actin cytoskeleton|cytoplasm	actin binding	p.G533C(1)		central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					ACATACAGAAGACCATTGACT	0.423													C	46165793	G	C	46165793	3	2	271	1	0	0	0	0	1	0	0	0	7858	942	33	4	260	4	IPP	1	46165793	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	17347535	46165793	203084828	5	18943											
GADD45A	1647	broad.mit.edu	37	chr1	68152267	68152267	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcactgcgtgctggtGacggtaagggactgggggac	7	7	18	9	2	0	1	0	1	0	0	0	4	0	3	1	5	3	3	1	5	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:68152267G>T	uc001ddz.2	+	2	699	c.381G>T	c.(379-381)gtG>gtT	p.V127V	GADD45A_uc009wbb.2_Silent_p.V93V|GADD45A_uc009wbc.2_Intron|GADD45A_uc009wbd.2_Intron	NM_001924	NP_001915	P24522	GA45A_HUMAN	Homo sapiens growth arrest and DNA-damage-inducible, alpha (GADD45A), transcript variant 1, mRNA.	127					apoptosis|cell cycle arrest|cellular response to ionizing radiation|cellular response to mechanical stimulus|DNA repair|positive regulation of reactive oxygen species metabolic process|regulation of cyclin-dependent protein kinase activity|signal transduction in response to DNA damage	nucleus	protein binding			lung(2)|ovary(2)	4						GCGTGCTGGTGACGGTAAGGG	0.706													T	68152267	G	T	68152267	2	4	271	1	0	0	0	0	0	0	0	1	6233	1277	45	4		4	GADD45A	1	68152267	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	21986474	68152267	181098354	6	18944											
ABCA4	24	broad.mit.edu	37	chr1	94522271	94522271	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccagactggccttGgagaagaaggtgctgagcag	9	7	16	9	0	0	4	0	1	0	3	0	5	0	4	2	3	4	4	2	3	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:94522271G>A	uc001dqh.3	-	14	2372	c.2268C>T	c.(2266-2268)tcC>tcT	p.S756S	ABCA4_uc010otn.1_Intron	NM_000350	NP_000341	P78363	ABCA4_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 4 (ABCA4), mRNA.	756					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GACTGGCCTTGGAGAAGAAGG	0.542													A	94522271	G	A	94522271	2	1	271	1	0	0	0	0	0	0	0	1	34	1335	47	2		2	ABCA4	1	94522271	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	26370004	94522271	154728350	7	18945											
CGN	57530	broad.mit.edu	37	chr1	151491406	151491406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctactccgttcccactcCcaggcctcactggcaggccc	7	7	8	19	1	1	0	1	0	0	0	4	0	4	0	5	3	2	3	5	3	2	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:151491406C>T	uc009wmw.3	+	1	555	c.411C>T	c.(409-411)tcC>tcT	p.S137S		NM_020770	NP_065821	Q9P2M7	CING_HUMAN	Homo sapiens cingulin (CGN), mRNA.	131	Head.|Interacts with ZO-2.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			GTTCCCACTCCCAGGCCTCAC	0.592													T	151491406	C	T	151491406	2	4	271	1	0	0	0	0	0	0	0	1	3333	610	22	2		2	CGN	1	151491406	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	56969135	151491406	97759215	8	18946											
S100A14	57402	broad.mit.edu	37	chr1	153587428	153587428	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaatcagctcccagaaaCtcctgaactccagtttagag	12	9	6	14	0	1	3	1	1	0	2	5	3	5	3	4	0	3	2	4	0	4	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153587428C>G	uc001fce.3	-	3	364	c.248G>C	c.(247-249)aGt>aCt	p.S83T	S100A16_uc001fcd.1_5'Flank	NM_020672	NP_065723	Q9HCY8	S10AE_HUMAN	Homo sapiens S100 calcium binding protein A14 (S100A14), mRNA.	83					calcium ion homeostasis|defense response to bacterium|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|response to lipopolysaccharide|toll-like receptor 4 signaling pathway	cell junction|microtubule cytoskeleton|perinuclear region of cytoplasm	calcium ion binding|chemokine receptor binding			kidney(2)|large_intestine(1)|lung(1)	4	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTCCCAGAAACTCCTGAACTC	0.557													G	153587428	C	G	153587428	3	3	271	1	0	0	0	0	1	0	0	0	13867	565	20	4	70	4	S100A14	1	153587428	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2096022	153587428	95663193	9	18947											
NUP210L	91181	broad.mit.edu	37	chr1	153973356	153973356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acccaacttatctttcatagCcctcactaccactgcctcac	10	11	2	18	0	4	0	3	0	1	0	4	0	4	0	4	0	4	0	4	0	4	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:153973356C>A	uc001fdw.3	-	36	5434	c.5362G>T	c.(5362-5364)Gct>Tct	p.A1788S	NUP210L_uc009woq.3_Missense_Mutation_p.A697S|NUP210L_uc010peh.2_Intron	NM_207308	NP_997191	Q5VU65	P210L_HUMAN	Homo sapiens nucleoporin 210kDa-like (NUP210L), transcript variant 1, mRNA.	1788						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TCTTTCATAGCCCTCACTACC	0.408													A	153973356	C	A	153973356	3	1	271	1	0	0	0	0	1	0	0	0	10837	739	26	4	320	4	NUP210L	1	153973356	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	385928	153973356	95277265	10	18948											
PYHIN1	149628	broad.mit.edu	37	chr1	158914677	158914677	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actttcagatacagaaaaatAcaaaccagagaagccatgac	20	6	6	9	0	1	4	1	1	0	3	1	5	1	4	2	0	4	0	2	0	6	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:158914677A>G	uc001ftb.3	+	6	1454	c.1204A>G	c.(1204-1206)Aca>Gca	p.T402A	PYHIN1_uc001ftc.3_Missense_Mutation_p.T393A|PYHIN1_uc001ftd.3_Missense_Mutation_p.T402A|PYHIN1_uc001fte.3_Missense_Mutation_p.T393A	NM_152501	NP_689714	Q6K0P9	IFIX_HUMAN	Homo sapiens pyrin and HIN domain family, member 1 (PYHIN1), transcript variant 1, mRNA.	402					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACAGAAAAATACAAACCAGAG	0.373													G	158914677	A	G	158914677	3	3	271	1	0	0	0	0	1	0	0	0	12953	391	14	3	1226	3	PYHIN1	1	158914677	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	4941321	158914677	90335944	11	18949											
HMCN1	83872	broad.mit.edu	37	chr1	186134268	186134268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagtaatcagtgcccctcCgggtttaccttagactcagt	8	11	9	13	2	2	1	2	0	0	1	3	1	3	1	4	1	2	3	4	1	3	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:186134268C>T	uc001grq.1	+	97	15511	c.15282C>T	c.(15280-15282)tcC>tcT	p.S5094S	MIR548F1_uc021pgf.1_Intron|HMCN1_uc001grs.1_Silent_p.S663S	NM_031935	NP_114141	Q96RW7	HMCN1_HUMAN	Homo sapiens hemicentin 1 (HMCN1), mRNA.	5094					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AGTGCCCCTCCGGGTTTACCT	0.408													T	186134268	C	T	186134268	2	4	271	1	0	0	0	0	0	0	0	1	7275	639	23	1		1	HMCN1	1	186134268	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	27219591	186134268	63116353	12	18950											
FCAMR	83953	broad.mit.edu	37	chr1	207140441	207140441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggcattttccatcccGccctcctgctggtgacctgc	5	10	11	15	1	0	2	0	1	0	1	3	2	3	2	5	3	2	2	5	3	0	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:207140441G>A	uc001hfa.4	-	2	625	c.125C>T	c.(124-126)gCg>gTg	p.A42V	FCAMR_uc001hfb.3_Missense_Mutation_p.A42V|FCAMR_uc009xca.2_Missense_Mutation_p.A42V|FCAMR_uc021pig.1_5'Flank	NM_001170631	NP_001164102	Q8WWV6	FCAMR_HUMAN	Homo sapiens Fc receptor, IgA, IgM, high affinity (FCAMR), transcript variant 3, mRNA.	341						integral to membrane|plasma membrane	receptor activity	p.A42A(1)		endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						TTTCCATCCCGCCCTCCTGCT	0.527													A	207140441	G	A	207140441	3	1	271	1	0	0	0	0	1	0	0	0	5821	1087	38	1	1632	1	FCAMR	1	207140441	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	21006173	207140441	42110180	13	18951											
USH2A	7399	broad.mit.edu	37	chr1	215848243	215848243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagcatcctccactcGtgcaggcttggagtgcatag	7	10	14	10	1	0	0	0	0	0	0	3	2	2	2	2	4	3	4	2	4	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:215848243G>A	uc001hku.1	-	62	13397	c.13010C>T	c.(13009-13011)aCg>aTg	p.T4337M		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	4337	Fibronectin type-III 28.		T -> M (in USH2A).		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)		TCCTCCACTCGTGCAGGCTTG	0.498										HNSCC(13;0.011)			A	215848243	G	A	215848243	3	1	271	1	0	0	0	0	1	0	0	0	17138	1145	40	1	2638	1	USH2A	1	215848243	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8707802	215848243	33402378	14	18952											
USH2A	7399	broad.mit.edu	37	chr1	216538373	216538373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagagttcttgcattgaaagGtgtatgatccttctccacgc	9	14	9	9	1	2	3	0	2	2	1	4	3	3	3	2	1	1	3	2	1	3	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:216538373G>A	uc001hku.1	-	3	1093	c.706C>T	c.(706-708)Cct>Tct	p.P236S	USH2A_uc001hkv.3_Missense_Mutation_p.P236S	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	236					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)		GCATTGAAAGGTGTATGATCC	0.353										HNSCC(13;0.011)			A	216538373	G	A	216538373	3	1	271	1	0	0	0	0	1	0	0	0	17138	1261	44	2	15192	2	USH2A	1	216538373	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	690130	216538373	32712248	15	18953											
OR2T33	391195	broad.mit.edu	37	chr1	248436840	248436840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatctgcacaccacagccagCgcgggagatggccttacttc	9	7	11	14	2	1	1	0	0	1	1	2	3	1	1	3	2	4	1	3	2	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr1:248436840C>T	uc010pzi.2	-	0	277	c.277G>A	c.(277-279)Gct>Act	p.A93T		NM_001004695	NP_001004695	Q8NG76	O2T33_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 33 (OR2T33), mRNA.	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R92S(1)		NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCACAGCCAGCGCGGGAGATG	0.577													T	248436840	C	T	248436840	3	4	271	1	0	0	0	0	1	0	0	0	11100	768	27	1	688	1	OR2T33	1	248436840	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	31898467	248436840	813781	16	18954											
IAH1	285148	broad.mit.edu	37	chr2	9628296	9628296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttctcatcttatttatcAgatggactacatttgtctcc	9	17	5	10	0	4	1	2	0	3	1	6	3	4	2	1	1	1	0	1	1	3	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:9628296A>G	uc002qzr.3	+	5	611	c.585A>G	c.(583-585)tcA>tcG	p.S195S	IAH1_uc002qzs.3_Silent_p.S82S|IAH1_uc002qzt.3_Silent_p.S82S|IAH1_uc010yiz.2_Non-coding_Transcript	NM_001039613	NP_001034702	Q2TAA2	IAH1_HUMAN	Homo sapiens isoamyl acetate-hydrolyzing esterase 1 homolog (S. cerevisiae) (IAH1), mRNA.	195					lipid catabolic process		hydrolase activity, acting on ester bonds			breast(1)|large_intestine(2)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTATTTATCAGATGGACTAC	0.448													G	9628296	A	G	9628296	2	3	271	1	0	0	0	0	0	0	0	1	7529	175	7	3		3	IAH1	2	9628296	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08		9628296	233571077	17	18955											
TTN	7273	broad.mit.edu	37	chr2	179542390	179542392	+	In_Frame_Del	DEL	CTT	CTT	-																															aggtttaacttctggaaggaCttcttcttcaggtacaaatt																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:179542390_179542392delCTT	uc021vsy.1	-	142	30740_30742	c.30515_30517delAAG	c.(30514-30519)gaagtc>gtc	p.E10172del	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_In_Frame_Del_p.E6833del|TTN_uc010fre.1_Intron|TTN_uc002una.1_Non-coding_Transcript|TTN_uc010frf.1_Non-coding_Transcript	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	11099	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGAAGGACTTCTTCTTCAGG	0.443													-	179542392	CTT	-	179542390	7	5	271	1	0	1	0	1	0	0	0	0	16837	565	20	0	70148	0	TTN	2	179542390	In_Frame_Del	DEL	CTT	TCGA-76-6283-01A-11D-1845-08	169914094	179542390	63656983	18	18956											
COL3A1	1281	broad.mit.edu	37	chr2	189859008	189859008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gactgatgggagcccggggtCctccaggaccagccggtgct	6	6	16	13	2	0	1	0	1	0	0	2	4	2	3	5	5	3	1	5	5	0	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr2:189859008C>T	uc002uqj.1	+	17	1360	c.1243C>T	c.(1243-1245)Cct>Tct	p.P415S	COL3A1_uc010frw.1_Non-coding_Transcript|MIR3606_uc021vtx.1_5'Flank	NM_000090	NP_000081	P02461	CO3A1_HUMAN	Homo sapiens collagen, type III, alpha 1 (COL3A1), mRNA.	415	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AGCCCGGGGTCCTCCAGGACC	0.498													T	189859008	C	T	189859008	3	4	271	1	0	0	0	0	1	0	0	0	3719	855	30	2	1313	2	COL3A1	2	189859008	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	10316618	189859008	53340365	19	18957											
NUP210	23225	broad.mit.edu	37	chr3	13427820	13427820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccttgtagtgaatggAggttcccaccatcaggtaga	10	10	11	10	0	1	2	1	1	0	1	2	3	2	3	3	3	1	4	3	3	3	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:13427820A>G	uc003bxv.1	-	5	855	c.772T>C	c.(772-774)Tcc>Ccc	p.S258P		NM_024923	NP_079199	Q8TEM1	PO210_HUMAN	Homo sapiens nucleoporin 210kDa (NUP210), mRNA.	258					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TAGTGAATGGAGGTTCCCACC	0.468													G	13427820	A	G	13427820	3	3	271	1	0	0	0	0	1	0	0	0	10836	304	11	3	5031	3	NUP210	3	13427820	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		13427820	184594610	20	18958											
NKTR	4820	broad.mit.edu	37	chr3	42678511	42678511	+	Frame_Shift_Del	DEL	A	A	-																															aagaaaaaaaggttaagcatAaaaagaaagggaaaaagcag																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:42678511delA	uc003clo.3	+	12	1462	c.1315delA	c.(1315-1317)aaafs	p.K439fs	NKTR_uc003clm.1_Frame_Shift_Del_p.K186fs|NKTR_uc011azp.2_Intron|NKTR_uc003clp.3_Frame_Shift_Del_p.K186fs|NKTR_uc003clq.1_Frame_Shift_Del_p.K329fs|NKTR_uc003clr.1_Frame_Shift_Del_p.K186fs|NKTR_uc003cls.3_Frame_Shift_Del_p.K139fs	NM_005385	NP_005376	P30414	NKTR_HUMAN	Homo sapiens natural killer-tumor recognition sequence (NKTR), mRNA.	439	Arg/Lys-rich (basic).				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GGTTAAGCATAAAAAGAAAGG	0.368													-	42678511	A	-	42678511	7	5	271	1	0	1	0	1	0	0	0	0	10524	363	13	0	1361	0	NKTR	3	42678511	Frame_Shift_Del	DEL	A	TCGA-76-6283-01A-11D-1845-08	29250691	42678511	155343919	21	18959											
ALAS1	211	broad.mit.edu	37	chr3	52242221	52242221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcggagggattggggatcggGatggagtcatgccaaaaatg	11	7	18	5	2	1	0	1	0	0	0	2	5	1	5	1	6	1	0	1	6	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52242221G>A	uc011bec.2	+	8	1659	c.1339G>A	c.(1339-1341)Gat>Aat	p.D447N	ALAS1_uc003dcy.2_Missense_Mutation_p.D430N|ALAS1_uc003dcz.2_Missense_Mutation_p.D430N	NM_199166	NP_954635	P13196	HEM1_HUMAN	Homo sapiens aminolevulinate, delta-, synthase 1 (ALAS1), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	430					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TGGGGATCGGGATGGAGTCAT	0.483													A	52242221	G	A	52242221	3	1	271	1	0	0	0	0	1	0	0	0	484	1174	41	2	1314	2	ALAS1	3	52242221	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	9563710	52242221	145780209	22	18960											
DNAH1	25981	broad.mit.edu	37	chr3	52422839	52422839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcatcaacgggctgtcGgatgagaaggtgcgctggca	9	7	15	10	3	2	1	2	1	0	1	3	3	2	2	0	4	3	4	0	4	2	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:52422839G>A	uc011bef.2	+	58	9642	c.9381G>A	c.(9379-9381)tcG>tcA	p.S3127S	DNAH1_uc003ddv.3_5'UTR	NM_015512	NP_056327	Q9P2D7	DYH1_HUMAN	Homo sapiens dynein, axonemal, heavy chain 1 (DNAH1), mRNA.	3192					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)		ACGGGCTGTCGGATGAGAAGG	0.667													A	52422839	G	A	52422839	2	1	271	1	0	0	0	0	0	0	0	1	4636	1103	39	1		1	DNAH1	3	52422839	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	180618	52422839	145599591	23	18961											
SERPINI1	5274	broad.mit.edu	37	chr3	167525043	167525043	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccaggttcacagtggAacaggaaattgatttaaaag	14	11	10	6	0	2	1	1	1	1	0	3	3	2	3	1	3	1	2	1	3	4	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr3:167525043A>C	uc003ffa.4	+	5	1091	c.893A>C	c.(892-894)gAa>gCa	p.E298A	SERPINI1_uc003ffb.4_Missense_Mutation_p.E298A	NM_001122752	NP_005016	Q99574	NEUS_HUMAN	Homo sapiens serpin peptidase inhibitor, clade I (neuroserpin), member 1 (SERPINI1), transcript variant 2, mRNA.	298					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.E298E(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCACAGTGGAACAGGAAATT	0.338													C	167525043	A	C	167525043	3	2	271	1	0	0	0	0	1	0	0	0	14211	246	9	5	911	5	SERPINI1	3	167525043	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	115102204	167525043	30497387	24	18962											
ATP8A1	10396	broad.mit.edu	37	chr4	42581956	42581956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttgtacatttgtaatccGttccacatttgagagcttaa	12	16	6	7	1	0	1	0	1	0	1	2	2	2	1	2	0	2	4	2	0	4	7			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:42581956G>A	uc003gwr.2	-	10	1106	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	ATP8A1_uc003gws.2_Missense_Mutation_p.R292W|ATP8A1_uc011byz.1_Missense_Mutation_p.R292W	NM_006095	NP_006086	Q9Y2Q0	AT8A1_HUMAN	Homo sapiens ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1 (ATP8A1), transcript variant 1, mRNA.	292					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	p.R292W(2)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TTTGTAATCCGTTCCACATTT	0.343													A	42581956	G	A	42581956	3	1	271	1	0	0	0	0	1	0	0	0	1197	1144	40	1	2728	1	ATP8A1	4	42581956	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		42581956	148572320	25	18963											
CENPE	1062	broad.mit.edu	37	chr4	104065619	104065619	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggttttcatgtagtatctGagtcaaccttatattctccg	10	16	7	8	1	4	1	2	1	2	0	5	1	4	1	2	1	1	3	2	1	6	7			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:104065619G>A	uc003hxb.1	-	32	5104	c.5014C>T	c.(5014-5016)Cag>Tag	p.Q1672*	CENPE_uc003hxc.1_Nonsense_Mutation_p.Q1647*	NM_001813	NP_001804	Q02224	CENPE_HUMAN	Homo sapiens centromere protein E, 312kDa (CENPE), mRNA.	1672					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGTAGTATCTGAGTCAACCTT	0.393													A	104065619	G	A	104065619	4	1	271	1	0	0	0	0	0	1	0	0	3260	1299	45	2	3159	2	CENPE	4	104065619	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	61483663	104065619	87088657	26	18964											
KIAA1109	84162	broad.mit.edu	37	chr4	123184110	123184110	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagaagcagtgctgcTgtgaaaagtagctccctaac	12	8	10	11	0	1	2	1	1	0	1	2	3	2	2	2	0	5	5	2	0	5	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123184110T>C	uc003ieh.3	+	40	6999	c.6954T>C	c.(6952-6954)gcT>gcC	p.A2318A	KIAA1109_uc003iel.1_Silent_p.A253A|KIAA1109_uc003iek.2_Silent_p.A937A	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2318					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GCAGTGCTGCTGTGAAAAGTA	0.463													C	123184110	T	C	123184110	2	2	271	1	0	0	0	0	0	0	0	1	8266	1567	55	3		3	KIAA1109	4	123184110	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	19118491	123184110	67970166	27	18965											
KIAA1109	84162	broad.mit.edu	37	chr4	123192519	123192519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcaaaaccagaaaacatCgggactttcgttcatctgac	13	10	6	12	2	3	2	2	1	1	1	5	3	3	3	2	1	2	1	2	1	4	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:123192519C>T	uc003ieh.3	+	44	7885	c.7840C>T	c.(7840-7842)Cgg>Tgg	p.R2614W	KIAA1109_uc003iel.1_Missense_Mutation_p.R549W|KIAA1109_uc003iek.2_Missense_Mutation_p.R1233W	NM_015312	NP_056127	Q2LD37	K1109_HUMAN	Homo sapiens KIAA1109 (KIAA1109), mRNA.	2614					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						CAGAAAACATCGGGACTTTCG	0.403													T	123192519	C	T	123192519	3	4	271	1	0	0	0	0	1	0	0	0	8266	875	31	1	8018	1	KIAA1109	4	123192519	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	8409	123192519	67961757	28	18966											
SLC10A7	84068	broad.mit.edu	37	chr4	147227117	147227117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacaacagtcataaaaagCtgagaaaaaatagatgtgaa	22	6	7	6	0	1	3	1	2	0	2	1	4	1	3	1	0	2	1	1	0	9	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr4:147227117C>T	uc010ioz.2	-	6	770	c.516G>A	c.(514-516)caG>caA	p.Q172Q	SLC10A7_uc003ikr.2_Silent_p.Q172Q|SLC10A7_uc010ipa.2_Silent_p.Q159Q|SLC10A7_uc003iks.2_Non-coding_Transcript	NM_001029998	NP_001025169	Q0GE19	NTCP7_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 7 (SLC10A7), transcript variant 2, mRNA.	172						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCATAAAAAGCTGAGAAAAAA	0.338													T	147227117	C	T	147227117	2	4	271	1	0	0	0	0	0	0	0	1	14473	796	28	2		2	SLC10A7	4	147227117	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	24034598	147227117	43927159	29	18967											
ZFR	51663	broad.mit.edu	37	chr5	32388633	32388636	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															gttcttgttcttctcatgttCagacaaactgtctgaaacga																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:32388633_32388636delCAGA	uc003jhr.1	-	12	2367_2370	c.2287_2290delTCTG	c.(2287-2292)tctgaafs	p.S763fs	ZFR_uc011cny.1_Non-coding_Transcript	NM_016107	NP_057191	Q96KR1	ZFR_HUMAN	Homo sapiens zinc finger RNA binding protein (ZFR), mRNA.	763					multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		TTCTCATGTTCAGACAAACTGTCT	0.358													-	32388636	CAGA	-	32388633	7	5	271	1	0	1	0	1	0	0	0	0	17760	835	29	0	966	0	ZFR	5	32388633	Frame_Shift_Del	DEL	CAGA	TCGA-76-6283-01A-11D-1845-08		32388633	148526627	30	18968											
ADAMTS12	81792	broad.mit.edu	37	chr5	33881270	33881270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcccaactctggtgcccTgctgtagaaccgtgccactg	6	9	10	16	2	1	1	0	0	1	1	2	1	2	1	5	1	5	2	5	1	3	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:33881270T>C	uc003jia.1	-	1	606	c.443A>G	c.(442-444)cAg>cGg	p.Q148R	ADAMTS12_uc010iuq.1_Missense_Mutation_p.Q148R|ADAMTS12_uc003jib.1_Missense_Mutation_p.Q148R	NM_030955	NP_112217	P58397	ATS12_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 12 (ADAMTS12), mRNA.	148					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TCTGGTGCCCTGCTGTAGAAC	0.577										HNSCC(64;0.19)			C	33881270	T	C	33881270	3	2	271	1	0	0	0	0	1	0	0	0	257	1580	55	3	4433	3	ADAMTS12	5	33881270	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	1492637	33881270	147033990	31	18969											
GPR98	84059	broad.mit.edu	37	chr5	90046453	90046453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaaaaggaacatatggccGtataaccatagcatgggaag	16	8	10	7	1	0	0	0	0	0	0	0	2	0	2	2	3	3	2	2	3	8	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90046453G>A	uc003kju.3	+	52	11156	c.11060G>A	c.(11059-11061)cGt>cAt	p.R3687H	GPR98_uc003kjt.3_Missense_Mutation_p.R1393H|GPR98_uc003kjv.3_Missense_Mutation_p.R1287H	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	3687					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATATGGCCGTATAACCATA	0.343													A	90046453	G	A	90046453	3	1	271	1	0	0	0	0	1	0	0	0	6776	1145	40	1	11270	1	GPR98	5	90046453	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	56165183	90046453	90868807	32	18970											
GPR98	84059	broad.mit.edu	37	chr5	90144497	90144497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctttcagtgttgccagccGaactcttttctatgagattc	8	15	8	10	1	3	1	1	1	2	1	4	3	3	1	2	0	4	2	2	0	2	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90144497G>A	uc003kju.3	+	78	17159	c.17063G>A	c.(17062-17064)cGa>cAa	p.R5688Q	GPR98_uc003kjt.3_Missense_Mutation_p.R3394Q|GPR98_uc003kjw.3_Missense_Mutation_p.R1349Q	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5688					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTTGCCAGCCGAACTCTTTTC	0.323													A	90144497	G	A	90144497	3	1	271	1	0	0	0	0	1	0	0	0	6776	1058	37	1	17377	1	GPR98	5	90144497	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	98044	90144497	90770763	33	18971											
GPR98	84059	broad.mit.edu	37	chr5	90159635	90159635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactccatgtttgcagctaaActtctgactcacatgatggc	10	13	7	11	0	2	2	1	2	1	0	3	2	3	2	1	1	4	3	1	1	3	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:90159635A>T	uc003kju.3	+	82	17913	c.17817A>T	c.(17815-17817)aaA>aaT	p.K5939N	GPR98_uc003kjt.3_Missense_Mutation_p.K3645N|GPR98_uc003kjw.3_Missense_Mutation_p.K1600N	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	5939					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCAGCTAAACTTCTGACTC	0.423													T	90159635	A	T	90159635	3	4	271	1	0	0	0	0	1	0	0	0	6776	40	2	5	18147	5	GPR98	5	90159635	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	15138	90159635	90755625	34	18972											
EPB41L4A	64097	broad.mit.edu	37	chr5	111540130	111540130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaggggtttcggcgacGcgtgtaagggaactttggcg	8	8	18	7	5	0	0	0	0	0	0	1	3	0	2	0	6	1	2	0	6	2	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:111540130G>A	uc003kpv.1	-	14	1592	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C	EPB41L4A_uc003kpp.1_Missense_Mutation_p.R67C	NM_022140	NP_071423	Q9HCS5	E41LA_HUMAN	Homo sapiens erythrocyte membrane protein band 4.1 like 4A (EPB41L4A), mRNA.	440						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TTTCGGCGACGCGTGTAAGGG	0.488													A	111540130	G	A	111540130	3	1	271	1	0	0	0	0	1	0	0	0	5196	1087	38	1	778	1	EPB41L4A	5	111540130	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	21380495	111540130	69375130	35	18973											
ATG12	9140	broad.mit.edu	37	chr5	115177086	115177087	+	Splice_Site	INS	-	-	T																															ccggaaataaattcagttacINStttttttcttggtgtcgcca																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:115177086_115177087insT	uc003krh.3	-	1	462	c.163_splice	c.e1+1	p.I55_splice	AP3S1_uc003krl.3_5'Flank|AP3S1_uc003krk.3_5'Flank|ATG12_uc021ycr.1_Splice_Site|ATG12_uc021ycs.1_Splice_Site|ATG12_uc003kri.3_Splice_Site_p.I102_splice	NM_004707	NP_004698	O94817	ATG12_HUMAN	Homo sapiens ATG12 autophagy related 12 homolog (S. cerevisiae) (ATG12), transcript variant 1, mRNA.	55					autophagic vacuole assembly|negative regulation of type I interferon production	pre-autophagosomal structure membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|prostate(1)	5		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;7.59e-08)|Epithelial(69;7.05e-07)|all cancers(49;3.11e-05)		AATTCAGTTACTTTTTTTCTTG	0.55													T	115177087	-	T	115177086	8	5	271	1	0	1	1	0	0	0	1	0	1095	579	20	0	274	0	ATG12	5	115177086	Splice_Site	INS	-	TCGA-76-6283-01A-11D-1845-08	3636956	115177086	65738174	36	18974											
PRR16	51334	broad.mit.edu	37	chr5	120022105	120022105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggcctcgagaacgagttCggtttaatgaaaaagtacag	14	8	12	7	3	0	2	0	1	0	1	2	4	0	2	1	2	2	3	1	2	5	4	rs137912065	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:120022105C>T	uc003ksq.3	+	1	779	c.616C>T	c.(616-618)Cgg>Tgg	p.R206W	PRR16_uc003ksp.3_Missense_Mutation_p.R183W|PRR16_uc003ksr.3_Missense_Mutation_p.R136W	NM_016644	NP_057728	Q569H4	PRR16_HUMAN	Homo sapiens proline rich 16 (PRR16), mRNA.	206	Pro-rich.							p.R206S(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AGAACGAGTTCGGTTTAATGA	0.473													T	120022105	C	T	120022105	3	4	271	1	0	0	0	0	1	0	0	0	12675	875	31	1	553	1	PRR16	5	120022105	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	4845019	120022105	60893155	37	18975											
CSNK1G3	1456	broad.mit.edu	37	chr5	122893189	122893189	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgtttgtttttcaattagGagcccatgaaatcaagagca	12	15	8	6	0	2	2	2	1	0	1	2	3	2	3	1	1	2	3	1	1	4	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:122893189G>T	uc003ktm.3	+	4	939	c.220_splice	c.e4-1	p.E74_splice	CSNK1G3_uc003ktl.3_Splice_Site_p.E74_splice|CSNK1G3_uc003ktn.3_Splice_Site_p.E74_splice|CSNK1G3_uc003kto.3_Splice_Site_p.E74_splice|CSNK1G3_uc011cwr.2_Splice_Site|CSNK1G3_uc011cws.2_Intron|CSNK1G3_uc010jda.3_Splice_Site_p.E74_splice	NM_004384	NP_004375	Q9Y6M4	KC1G3_HUMAN	Homo sapiens casein kinase 1, gamma 3 (CSNK1G3), transcript variant 1, mRNA.	74	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		TTTCAATTAGGAGCCCATGAA	0.303													T	122893189	G	T	122893189	4	4	271	1	0	0	0	0	0	1	0	0	3989	1188	41	4	230	4	CSNK1G3	5	122893189	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	2871084	122893189	58022071	38	18976											
TRPC7	57113	broad.mit.edu	37	chr5	135693041	135693041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcgttgtgtgccggCgctgcatgtttttgaaggtg	4	13	14	10	3	1	1	1	1	0	0	1	1	1	1	2	2	3	4	2	2	1	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:135693041C>T	uc003lbn.2	-	1	257	c.35G>A	c.(34-36)cGc>cAc	p.R12H	TRPC7_uc010jef.2_Missense_Mutation_p.R3H|TRPC7_uc010jeg.2_Non-coding_Transcript|TRPC7_uc010jej.2_5'UTR|TRPC7_uc010jeh.2_Missense_Mutation_p.R12H|TRPC7_uc010jei.2_Missense_Mutation_p.R12H	NM_020389	NP_065122	Q9HCX4	TRPC7_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily C, member 7 (TRPC7), transcript variant 1, mRNA.	12					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGTGTGCCGGCGCTGCATGTT	0.572													T	135693041	C	T	135693041	3	4	271	1	0	0	0	0	1	0	0	0	16685	768	27	1	2597	1	TRPC7	5	135693041	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	12799852	135693041	45222219	39	18977											
NDFIP1	80762	broad.mit.edu	37	chr5	141511419	141511419	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaacaggctgcaggtgAtgctcctccaccttacagca	10	8	9	14	0	0	2	0	2	0	0	2	2	2	2	4	2	5	4	4	2	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:141511419A>G	uc003lmi.4	+	1	326	c.110A>G	c.(109-111)gAt>gGt	p.D37G	NDFIP1_uc003lmj.1_Missense_Mutation_p.D37G	NM_030571	NP_085048	Q9BT67	NFIP1_HUMAN	Homo sapiens Nedd4 family interacting protein 1 (NDFIP1), mRNA.	37					cellular iron ion homeostasis|negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endosome membrane|extracellular region|Golgi membrane|integral to membrane|perinuclear region of cytoplasm	signal transducer activity	p.D37D(1)		large_intestine(3)|lung(1)|ovary(1)	5		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGCAGGTGATGCTCCTCCA	0.408													G	141511419	A	G	141511419	3	3	271	1	0	0	0	0	1	0	0	0	10321	333	12	3	116	3	NDFIP1	5	141511419	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	5818378	141511419	39403841	40	18978											
GABRG2	2566	broad.mit.edu	37	chr5	161530925	161530925	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgaagaaattgtttatcAatggaagcgaagttctgttg	13	13	11	4	2	2	2	1	1	1	1	2	4	2	3	0	1	1	3	0	1	6	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:161530925A>T	uc010jjc.3	+	6	1140	c.782A>T	c.(781-783)cAa>cTa	p.Q261L	GABRG2_uc003lyy.4_Missense_Mutation_p.Q221L|GABRG2_uc003lyz.4_Missense_Mutation_p.Q221L|GABRG2_uc011dej.2_Missense_Mutation_p.Q126L	NM_198903	NP_944493	P18507	GBRG2_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, gamma 2 (GABRG2), transcript variant 3, mRNA.	221					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATTGTTTATCAATGGAAGCGA	0.388													T	161530925	A	T	161530925	3	4	271	1	0	0	0	0	1	0	0	0	6224	130	5	5	808	5	GABRG2	5	161530925	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	20019506	161530925	19384335	41	18979											
BNIP1	662	broad.mit.edu	37	chr5	172585746	172585746	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtgaaccttccaattccaGcaatcaggcctcatggagga	12	8	9	12	1	2	1	2	1	0	0	4	3	4	3	4	3	2	1	4	3	3	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:172585746G>A	uc003mci.4	+	5	503	c.399_splice	c.e5-1	p.S133_splice	BNIP1_uc003mcj.4_Splice_Site_p.S90_splice|BNIP1_uc003mck.4_Intron|BNIP1_uc003mcl.4_Intron|BNIP1_uc021yhw.1_Splice_Site_p.S3_splice	NM_013979	NP_053582	Q12981	SEC20_HUMAN	Homo sapiens BCL2/adenovirus E1B 19kDa interacting protein 1 (BNIP1), transcript variant BNIP1-b, mRNA.	90					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			TCCAATTCCAGCAATCAGGCC	0.483													A	172585746	G	A	172585746	5	1	271	1	0	0	0	0	0	0	1	0	1482	985	34	2	416	2	BNIP1	5	172585746	Splice_Site	SNP	G	TCGA-76-6283-01A-11D-1845-08	11054821	172585746	8329514	42	18980											
CDHR2	54825	broad.mit.edu	37	chr5	176004494	176004494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggctcagcctccgttcAggtgctggtgagagtatccg	6	10	15	10	2	2	1	2	1	0	1	4	2	4	1	3	3	2	4	3	3	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr5:176004494A>G	uc021yie.1	+	12	1563	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	CDHR2_uc003mem.2_Missense_Mutation_p.Q430R|CDHR2_uc003men.1_Missense_Mutation_p.Q430R	NM_001171976	NP_060145	Q9BYE9	CDHR2_HUMAN	Homo sapiens cadherin-related family member 2 (CDHR2), transcript variant 1, mRNA.	430	Cadherin 4.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCGTTCAGGTGCTGGTG	0.672													G	176004494	A	G	176004494	3	3	271	1	0	0	0	0	1	0	0	0	3149	188	7	3	1335	3	CDHR2	5	176004494	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	3418748	176004494	4910766	43	18981											
DSP	1832	broad.mit.edu	37	chr6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggctctatgatgctaaaCgccgccaggattccttagaa	11	10	10	10	2	1	2	0	1	1	1	2	3	2	3	3	2	2	2	3	2	5	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:7576615C>T	uc003mxp.1	+	18	2998	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_uc003mxq.1_Missense_Mutation_p.R907C|DSP_uc021yle.1_Missense_Mutation_p.R907C	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	907	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423													T	7576615	C	T	7576615	3	4	271	1	0	0	0	0	1	0	0	0	4820	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		7576615	163538452	44	18982											
TAP2	6891	broad.mit.edu	37	chr6	32798068	32798068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggtagcagtgttcAtactgtgagatgggcttttc	7	14	13	7	0	1	1	1	1	0	1	2	2	1	1	0	2	3	5	0	2	2	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:32798068A>G	uc011dqf.1	-	8	1733	c.1611T>C	c.(1609-1611)taT>taC	p.Y537Y	TAP2_uc003ocb.1_Silent_p.Y537Y|TAP2_uc003occ.3_Silent_p.Y537Y|TAP2_uc003ocd.3_Silent_p.Y537Y	NM_018833	NP_061313	Q03519	TAP2_HUMAN	Homo sapiens transporter 2, ATP-binding cassette, sub-family B (MDR/TAP) (TAP2), transcript variant 2, mRNA.	537	ABC transporter.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										AGCAGTGTTCATACTGTGAGA	0.587													G	32798068	A	G	32798068	2	3	271	1	0	0	0	0	0	0	0	1	15648	224	8	3		3	TAP2	6	32798068	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08	25221453	32798068	138316999	45	18983											
TREML2	79865	broad.mit.edu	37	chr6	41166078	41166078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaccttgccctccacgcGgtttttgtagcccttatagg	7	12	8	14	2	0	0	0	0	0	0	1	0	1	0	5	2	3	2	5	2	4	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:41166078G>A	uc010jxm.1	-	1	324	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C		NM_024807	NP_079083	Q5T2D2	TRML2_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells-like 2 (TREML2), mRNA.	49	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTCCACGCGGTTTTTGTAG	0.547													A	41166078	G	A	41166078	3	1	271	1	0	0	0	0	1	0	0	0	16574	1116	39	1	836	1	TREML2	6	41166078	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8368010	41166078	129948989	46	18984											
ABCC10	89845	broad.mit.edu	37	chr6	43417751	43417751	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccccggccaccctgcgCaaccagccccactccctgtt	6	6	7	22	2	0	0	0	0	0	0	2	1	2	0	8	1	3	2	8	1	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr6:43417751C>T	uc003ouy.1	+	21	4616	c.4401C>T	c.(4399-4401)cgC>cgT	p.R1467R	ABCC10_uc003ouz.1_Silent_p.R1439R|ABCC10_uc010jyo.1_Silent_p.R573R	NM_001198934	NP_001185863	Q5T3U5	MRP7_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 10 (ABCC10), transcript variant MRP7, mRNA.	1467	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CCACCCTGCGCAACCAGCCCC	0.642													T	43417751	C	T	43417751	2	4	271	1	0	0	0	0	0	0	0	1	50	697	25	2		2	ABCC10	6	43417751	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2251673	43417751	127697316	47	18985											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcctggtgccagcGttgtccccttgtggcctggc	2	11	15	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577													A	6628405	G	A	6628405	3	1	271	1	0	0	0	0	1	0	0	0	17718	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		6628405	152510258	48	18986											
CALCR	799	broad.mit.edu	37	chr7	93108737	93108737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcatccatcatcttctttCgtcctacgacgtaaagaaat	11	13	6	11	3	3	1	1	0	2	1	6	2	5	1	2	0	2	2	2	0	4	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:93108737C>T	uc003umv.2	-	4	488	c.188G>A	c.(187-189)cGa>cAa	p.R63Q	CALCR_uc003umt.1_Non-coding_Transcript|CALCR_uc003ums.1_Non-coding_Transcript|CALCR_uc022ahi.1_Missense_Mutation_p.R45Q|CALCR_uc003umw.2_Missense_Mutation_p.R45Q	NM_001164737	NP_001158209	P30988	CALCR_HUMAN	Homo sapiens calcitonin receptor (CALCR), transcript variant 1, mRNA.	45					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	CATCTTCTTTCGTCCTACGAC	0.403													T	93108737	C	T	93108737	3	4	271	1	0	0	0	0	1	0	0	0	2605	884	31	1	1386	1	CALCR	7	93108737	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	86480332	93108737	66029926	49	18987											
RBM28	55131	broad.mit.edu	37	chr7	127979698	127979698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaactcaccatttttccccTtttcctttgtcttgttcctc	5	19	3	14	0	2	0	1	0	1	0	6	1	5	0	5	0	1	1	5	0	1	7			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr7:127979698T>C	uc003vmp.2	-	1	381	c.266A>G	c.(265-267)aAg>aGg	p.K89R	RBM28_uc011koj.1_Intron|RBM28_uc011kok.1_Missense_Mutation_p.K36R	NM_018077	NP_060547	Q9NW13	RBM28_HUMAN	Homo sapiens RNA binding motif protein 28 (RBM28), transcript variant 1, mRNA.	89					mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ATTTTTCCCCTTTTCCTTTGT	0.443													C	127979698	T	C	127979698	3	2	271	1	0	0	0	0	1	0	0	0	13216	1609	56	3	2085	3	RBM28	7	127979698	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	34870961	127979698	31158965	50	18988											
INTS10	55174	broad.mit.edu	37	chr8	19677962	19677962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaacaatgcttcaacaCgttagaacgatcagaaatgt	16	8	8	9	3	2	2	2	0	0	2	2	4	2	3	0	1	4	2	0	1	6	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:19677962C>T	uc022asn.1	+	3	505	c.374C>T	c.(373-375)aCg>aTg	p.T125M	INTS10_uc003wzj.3_Missense_Mutation_p.T125M	NM_018142	NP_060612	Q9NVR2	INT10_HUMAN	Homo sapiens integrator complex subunit 10 (INTS10), mRNA.	125					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		TGCTTCAACACGTTAGAACGA	0.403													T	19677962	C	T	19677962	3	4	271	1	0	0	0	0	1	0	0	0	7834	536	19	1	388	1	INTS10	8	19677962	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		19677962	126686060	51	18989											
DCAF4L2	138009	broad.mit.edu	37	chr8	88886278	88886278	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgcttctttacaagcaCgacttggcacggaagaactt	11	10	9	11	3	1	1	0	0	1	1	1	3	1	2	1	2	4	4	1	2	5	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:88886278C>T	uc003ydz.3	-	0						NM_152418	NP_689631	Q8NA75	DC4L2_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 4-like 2 (DCAF4L2), mRNA.											breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTTACAAGCACGACTTGGCAC	0.577													T	88886278	C	T	88886278	1	4	271	1	0	0	0	0	0	0	0	0	4306	551	19	1		1	DCAF4L2	8	88886278	Translation_Start_Site	SNP	C	TCGA-76-6283-01A-11D-1845-08	69208316	88886278	57477744	52	18990											
SLC25A32	81034	broad.mit.edu	37	chr8	104417070	104417070	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcttccttctgttttatAtgacttgatggcattgtaac	8	18	7	8	0	2	2	0	2	2	0	3	2	3	2	1	1	2	4	1	1	3	8			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr8:104417070A>T	uc003yll.3	-	2	628	c.325T>A	c.(325-327)Tat>Aat	p.Y109N	SLC25A32_uc011lhr.2_Intron	NM_030780	NP_110407	Q9H2D1	MFTC_HUMAN	Homo sapiens solute carrier family 25, member 32 (SLC25A32), nuclear gene encoding mitochondrial protein, mRNA.	109					folic acid metabolic process|mitochondrial transport	integral to membrane|mitochondrial inner membrane	binding|folic acid transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	TCTGTTTTATATGACTTGATG	0.353													T	104417070	A	T	104417070	3	4	271	1	0	0	0	0	1	0	0	0	14590	449	16	5	642	5	SLC25A32	8	104417070	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	15530792	104417070	41946952	53	18991											
GPRIN2	9721	broad.mit.edu	37	chr10	46999114	46999114	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagccagcacgggcctcTggccccaaggcgcgacccag	9	3	13	16	3	1	1	0	1	1	0	1	2	1	1	5	3	2	1	5	3	2	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:46999114T>G	uc001jec.3	+	2	369	c.234T>G	c.(232-234)tcT>tcG	p.S78S	GPRIN2_uc021ppt.1_Silent_p.S78S	NM_014696	NP_055511	O60269	GRIN2_HUMAN	Homo sapiens G protein regulated inducer of neurite outgrowth 2 (GPRIN2), mRNA.	78										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						CACGGGCCTCTGGCCCCAAGG	0.706													G	46999114	T	G	46999114	2	3	271	1	0	0	0	0	0	0	0	1	6785	1567	55	5		5	GPRIN2	10	46999114	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08		46999114	88535633	54	18992											
PTEN	5728	broad.mit.edu	37	chr10	89624265	89624267	+	In_Frame_Del	DEL	AAG	AAG	-																															gagatcgttagcagaaacaaAaggagatatcaagaggatgg																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr10:89624265_89624267delAAG	uc001kfb.3	+	0	1071_1073	c.39_41delAAG	c.(37-42)aaaagg>aag	p.R15del	PTEN_uc021pvw.1_Non-coding_Transcript|KLLN_uc009xti.3_5'Flank	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	15	Phosphatase tensin-type.		R -> S (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R14G(4)|p.R15I(4)|p.R15S(3)|p.R14fs*29(2)|p.R15K(2)|p.R14M(2)|p.I8_R14>LRLICIF(2)|p.R14fs*10(2)|p.R14_D22del(2)|p.R15fs*23(1)|p.R14fs*26(1)|p.R15fs*28(1)|p.R15fs*9(1)|p.K13del(1)|p.N12fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCAGAAACAAAAGGAGATATCAA	0.488		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89624267	AAG	-	89624265	7	5	271	1	0	1	0	1	0	0	0	0	12823	11	1	0	41	0	PTEN	10	89624265	In_Frame_Del	DEL	AAG	TCGA-76-6283-01A-11D-1845-08	42625151	89624265	45910482	55	18993											
CPT1A	1374	broad.mit.edu	37	chr11	68549243	68549243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggtaaggacggtacctgtCgtaacatcggccgtgtagta	11	9	13	8	4	0	0	0	0	0	0	2	1	0	1	2	4	2	5	2	4	6	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:68549243C>T	uc001oog.4	-	10	1518	c.1348G>A	c.(1348-1350)Gac>Aac	p.D450N	CPT1A_uc001oof.4_Missense_Mutation_p.D450N	NM_001876	NP_001867	P50416	CPT1A_HUMAN	Homo sapiens carnitine palmitoyltransferase 1A (liver) (CPT1A), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	450					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	CGGTACCTGTCGTAACATCGG	0.473													T	68549243	C	T	68549243	3	4	271	1	0	0	0	0	1	0	0	0	3862	884	31	1	1049	1	CPT1A	11	68549243	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		68549243	66457273	56	18994											
FAT3	120114	broad.mit.edu	37	chr11	92539549	92539549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcatatacagcattacttCctgaagacattccatcaaat	14	13	4	10	0	1	2	1	1	0	1	3	2	3	2	2	0	4	2	2	0	5	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr11:92539549C>T	uc001pdj.4	+	10	9132	c.9115C>T	c.(9115-9117)Cct>Tct	p.P3039S		NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN	Homo sapiens FAT tumor suppressor homolog 3 (Drosophila) (FAT3), mRNA.	3039	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AGCATTACTTCCTGAAGACAT	0.358										TCGA Ovarian(4;0.039)			T	92539549	C	T	92539549	3	4	271	1	0	0	0	0	1	0	0	0	5740	855	30	2	9157	2	FAT3	11	92539549	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	23990306	92539549	42466967	57	18995											
CD163L1	283316	broad.mit.edu	37	chr12	7559424	7559424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggttagttccacctacaAgccttagttcaagatcacta	12	11	7	11	1	2	1	2	0	0	1	3	1	3	1	3	1	3	3	3	1	6	6			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:7559424A>G	uc010sge.2	-	4	847	c.821T>C	c.(820-822)cTt>cCt	p.L274P	CD163L1_uc001qsy.3_Missense_Mutation_p.L264P	NM_174941	NP_777601	Q9NR16	C163B_HUMAN	Homo sapiens CD163 molecule-like 1 (CD163L1), mRNA.	264	SRCR 3.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCACCTACAAGCCTTAGTTC	0.448													G	7559424	A	G	7559424	3	3	271	1	0	0	0	0	1	0	0	0	2998	72	3	3	3630	3	CD163L1	12	7559424	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08		7559424	126292471	58	18996											
AICDA	57379	broad.mit.edu	37	chr12	8759510	8759510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggatgtagcactgtcaCgcctcttcactacgtagcac	12	9	8	12	2	3	0	2	0	1	0	3	1	3	1	1	1	3	4	1	1	5	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:8759510C>T	uc001qur.2	-	1	186	c.107G>A	c.(106-108)cGt>cAt	p.R36H	AICDA_uc001qup.1_Missense_Mutation_p.R31H|AICDA_uc001quq.1_Missense_Mutation_p.R31H|AICDA_uc009zgd.1_Non-coding_Transcript	NM_020661	NP_065712	Q9GZX7	AICDA_HUMAN	Homo sapiens activation-induced cytidine deaminase (AICDA), mRNA.	36					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					AGCACTGTCACGCCTCTTCAC	0.463													T	8759510	C	T	8759510	3	4	271	1	0	0	0	0	1	0	0	0	422	536	19	1	505	1	AICDA	12	8759510	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1200086	8759510	125092385	59	18997											
SENP1	29843	broad.mit.edu	37	chr12	48465464	48465464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttacctgggagttggagtCtgggaatctttcactttcag	7	15	12	7	0	4	0	2	0	2	0	4	3	4	3	1	3	1	2	1	3	2	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:48465464C>T	uc001rqx.3	-	8	1427	c.981G>A	c.(979-981)caG>caA	p.Q327Q	SENP1_uc001rqw.3_Silent_p.Q327Q|SENP1_uc001rqy.3_Silent_p.Q128Q|SENP1_uc001rqz.3_Silent_p.Q128Q|SENP1_uc009zkx.3_Silent_p.Q327Q	NM_014554	NP_055369	Q9P0U3	SENP1_HUMAN	Homo sapiens SUMO1/sentrin specific peptidase 1 (SENP1), mRNA.	327					activation of caspase activity|induction of apoptosis by extracellular signals|protein desumoylation|proteolysis	cytoplasm|nucleus	endopeptidase activity|SUMO-specific protease activity			large_intestine(3)|lung(1)|pancreas(2)|stomach(1)	7		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)				GAGTTGGAGTCTGGGAATCTT	0.358													T	48465464	C	T	48465464	2	4	271	1	0	0	0	0	0	0	0	1	14139	912	32	2		2	SENP1	12	48465464	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	39705954	48465464	85386431	60	18998											
DGKA	1606	broad.mit.edu	37	chr12	56336026	56336026	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtactggaaatgatctggctCgatgcctaagatggggagga	11	9	15	6	1	1	2	0	1	1	1	2	6	1	5	1	5	2	2	1	5	3	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:56336026C>T	uc001sij.3	+	16	1669	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	DGKA_uc001sih.1_Nonsense_Mutation_p.R357*|DGKA_uc001sii.1_Nonsense_Mutation_p.R327*|DGKA_uc009zod.1_Nonsense_Mutation_p.R388*|DGKA_uc001sik.3_Nonsense_Mutation_p.R469*|DGKA_uc001sil.3_Nonsense_Mutation_p.R469*|DGKA_uc001sim.3_Nonsense_Mutation_p.R469*|DGKA_uc001sin.3_Nonsense_Mutation_p.R469*|DGKA_uc009zof.3_Nonsense_Mutation_p.R115*|DGKA_uc001sio.3_Nonsense_Mutation_p.R211*	NM_001345	NP_963848	P23743	DGKA_HUMAN	Homo sapiens diacylglycerol kinase, alpha 80kDa (DGKA), transcript variant 3, mRNA.	469	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	TGATCTGGCTCGATGCCTAAG	0.498													T	56336026	C	T	56336026	4	4	271	1	0	0	0	0	0	1	0	0	4504	876	31	1	1467	1	DGKA	12	56336026	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	7870562	56336026	77515869	61	18999											
SSH1	54434	broad.mit.edu	37	chr12	109194640	109194640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagactcggatgttatgaTatgcaaataagccaggaaaa	16	9	10	6	2	0	2	0	1	0	1	1	4	0	4	1	2	2	3	1	2	7	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:109194640T>C	uc001tnm.3	-	11	1151	c.1064A>G	c.(1063-1065)tAt>tGt	p.Y355C	SSH1_uc001tnl.3_Missense_Mutation_p.Y43C|SSH1_uc010sxg.2_Missense_Mutation_p.Y366C|SSH1_uc001tnn.4_Missense_Mutation_p.Y355C	NM_018984	NP_061857	Q8WYL5	SSH1_HUMAN	Homo sapiens slingshot homolog 1 (Drosophila) (SSH1), transcript variant 1, mRNA.	355	Tyrosine-protein phosphatase.				actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATGTTATGATATGCAAATAA	0.363													C	109194640	T	C	109194640	3	2	271	1	0	0	0	0	1	0	0	0	15280	1406	49	3	2287	3	SSH1	12	109194640	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	52858614	109194640	24657255	62	19000											
VSIG10	54621	broad.mit.edu	37	chr12	118509166	118509166	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacccagggagtccttacctTtccagcagaacacagggcta	11	7	10	13	0	0	1	0	0	0	1	2	3	2	2	4	2	3	2	4	2	3	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr12:118509166T>G	uc001tws.3	-	5	1662	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_019086	NP_061959	Q8N0Z9	VSI10_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 10 (VSIG10), mRNA.	443						integral to membrane				endometrium(5)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|urinary_tract(1)	17						GTCCTTACCTTTCCAGCAGAA	0.532													G	118509166	T	G	118509166	3	3	271	1	0	0	0	0	1	0	0	0	17325	1841	64	5	310	5	VSIG10	12	118509166	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	9314526	118509166	15342729	63	19001											
RB1	5925	broad.mit.edu	37	chr13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ttttctttcaaggttgaaaaTctttctaaacgatacgaaga																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:48941638_48941641delTCTT	uc001vcb.3	+	9	1114_1117	c.948_951delTCTT	c.(946-951)aatcttfs	p.N316fs	RB1_uc010act.1_Frame_Shift_Del_p.N17fs	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48941641	TCTT	-	48941638	7	5	271	1	0	1	0	1	0	0	0	0	13186	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-76-6283-01A-11D-1845-08		48941638	66228240	64	19002											
PIBF1	10464	broad.mit.edu	37	chr13	73372127	73372127	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatatcctagcagaagaatTaagtacaaacaaaaaccaac	22	6	5	8	0	0	2	0	0	0	2	1	3	1	2	2	0	5	2	2	0	11	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr13:73372127T>A	uc001vjc.3	+	4	940	c.635T>A	c.(634-636)tTa>tAa	p.L212*	PIBF1_uc010aeo.1_Non-coding_Transcript|PIBF1_uc001vjb.3_Nonsense_Mutation_p.L212*|PIBF1_uc010aep.3_Intron	NM_006346	NP_006337	Q8WXW3	PIBF1_HUMAN	Homo sapiens progesterone immunomodulatory binding factor 1 (PIBF1), mRNA.	212						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GCAGAAGAATTAAGTACAAAC	0.373													A	73372127	T	A	73372127	4	1	271	1	0	0	0	0	0	1	0	0	11956	1764	61	5	649	5	PIBF1	13	73372127	Nonsense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	24430489	73372127	41797751	65	19003											
MIA2	117153	broad.mit.edu	37	chr14	39722420	39722420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaataattttacctattttGctaaatataagagtggctac	14	15	6	6	0	0	1	0	0	0	1	0	1	0	1	1	1	3	3	1	1	9	10			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:39722420G>T	uc001wux.3	+	5	2126	c.1932G>T	c.(1930-1932)ttG>ttT	p.L644F		NM_054024	NP_473365	Q96PC5	MIA2_HUMAN	Homo sapiens melanoma inhibitory activity 2 (MIA2), mRNA.	0						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		TACCTATTTTGCTAAATATAA	0.289													T	39722420	G	T	39722420	3	4	271	1	0	0	0	0	1	0	0	0	9639	1310	46	4	1954	4	MIA2	14	39722420	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		39722420	67627120	66	19004											
FLVCR2	55640	broad.mit.edu	37	chr14	76107379	76107379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcagaaggcatctcctcCggcctcctcaacatatctgc	10	9	7	15	1	4	1	2	0	2	1	7	2	6	1	4	2	2	1	4	2	4	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr14:76107379C>T	uc001xrs.2	+	6	1693	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	FLVCR2_uc010tvd.1_Silent_p.S234S	NM_017791	NP_060261	Q9UPI3	FLVC2_HUMAN	Homo sapiens feline leukemia virus subgroup C cellular receptor family, member 2 (FLVCR2), transcript variant 1, mRNA.	439				S -> F (in Ref. 3; BAA91126).	transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GCATCTCCTCCGGCCTCCTCA	0.502													T	76107379	C	T	76107379	2	4	271	1	0	0	0	0	0	0	0	1	5995	639	23	1		1	FLVCR2	14	76107379	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	36384959	76107379	31242161	67	19005											
SPTBN5	51332	broad.mit.edu	37	chr15	42148626	42148626	+	Frame_Shift_Del	DEL	A	A	-																															tcctgagcctgctgcagcagAagccgcctccgcgccgcctc																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:42148626delA	uc001zos.3	-	52	9207	c.8874delT	c.(8872-8874)cttfs	p.L2958fs		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	2993					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTGCAGCAGAAGCCGCCTCC	0.697													-	42148626	A	-	42148626	7	5	271	1	0	1	0	1	0	0	0	0	15218	233	9	0	2109	0	SPTBN5	15	42148626	Frame_Shift_Del	DEL	A	TCGA-76-6283-01A-11D-1845-08		42148626	60382766	68	19006											
ZSCAN29	146050	broad.mit.edu	37	chr15	43661801	43661801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccttctcaccgaagatCtaggtcttccaggctctctt	6	13	6	16	1	4	1	1	0	4	1	8	2	6	1	4	2	0	1	4	2	2	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:43661801C>G	uc001zrk.1	-	0	458	c.311G>C	c.(310-312)aGa>aCa	p.R104T	ZSCAN29_uc001zrj.1_5'Flank|ZSCAN29_uc010bdg.1_Missense_Mutation_p.R103T|ZSCAN29_uc010bdf.1_Missense_Mutation_p.R103T|ZSCAN29_uc001zrl.1_Non-coding_Transcript|ZSCAN29_uc001zrm.3_Missense_Mutation_p.R103T|TUBGCP4_uc001zrn.3_5'Flank|TUBGCP4_uc001zro.3_5'Flank	NM_152455	NP_689668	Q8IWY8	ZSC29_HUMAN	Homo sapiens zinc finger and SCAN domain containing 29 (ZSCAN29), mRNA.	104			R -> G (in dbSNP:rs3809482).		viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		CACCGAAGATCTAGGTCTTCC	0.468													G	43661801	C	G	43661801	3	3	271	1	0	0	0	0	1	0	0	0	18333	913	32	4	2267	4	ZSCAN29	15	43661801	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1513175	43661801	58869591	69	19007											
ONECUT1	3175	broad.mit.edu	37	chr15	53081863	53081863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccaggctgtgctcaggggcCcggtggtggtggtggtaatc	4	9	19	9	1	1	0	1	0	0	0	2	0	1	0	2	8	1	3	2	8	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:53081863C>T	uc002aci.1	-	0	347	c.219G>A	c.(217-219)cgG>cgA	p.R73R		NM_004498	NP_004489	Q9UBC0	HNF6_HUMAN	Homo sapiens one cut homeobox 1 (ONECUT1), mRNA.	73					endocrine pancreas development	nucleus	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	17				all cancers(107;0.0708)		GCTCAGGGGCCCGGTGGTGGT	0.711													T	53081863	C	T	53081863	2	4	271	1	0	0	0	0	0	0	0	1	10944	610	22	2		2	ONECUT1	15	53081863	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	9420062	53081863	49449529	70	19008											
TCF12	6938	broad.mit.edu	37	chr15	57565229	57565244	+	Frame_Shift_Del	DEL	AGTACTAATGAAGATG	AGTACTAATGAAGATG	-																															ttgttactttattttctagcAgtactaatgaagatgaggat																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:57565229_57565244delAGTACTAATGAAGATG	uc002aec.3	+	17	1959_1974	c.1675_1690delAGTACTAATGAAGATG	c.(1675-1692)agtactaatgaagatgagfs	p.S559fs	TCF12_uc010ugm.1_Frame_Shift_Del_p.S611fs|TCF12_uc010ugn.1_Frame_Shift_Del_p.S579fs|TCF12_uc002aea.3_Frame_Shift_Del_p.S583fs|TCF12_uc010bfs.3_5'UTR|TCF12_uc002aeb.3_Frame_Shift_Del_p.S583fs|TCF12_uc002aed.3_Frame_Shift_Del_p.S559fs|TCF12_uc010ugo.2_Frame_Shift_Del_p.S323fs|TCF12_uc002aee.3_Frame_Shift_Del_p.S389fs|TCF12_uc010bft.3_Frame_Shift_Del_p.S413fs|TCF12_uc010ugp.2_Splice_Site_p.S216_splice|TCF12_uc010ugq.2_Frame_Shift_Del_p.S193fs|TCF12_uc010ugr.1_Frame_Shift_Del_p.S172fs	NM_207038	NP_996921	Q99081	HTF4_HUMAN	Homo sapiens transcription factor 12 (TCF12), transcript variant 4, mRNA.	559					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATTTTCTAGCAGTACTAATGAAGATGAGGATTTGAA	0.384			T	TEC	extraskeletal myxoid chondrosarcoma								-	57565244	AGTACTAATGAAGATG	-	57565229	7	5	271	1	0	1	0	1	0	0	0	0	15787	202	7	0	1890	0	TCF12	15	57565229	Frame_Shift_Del	DEL	AGTACTAATGAAGATG	TCGA-76-6283-01A-11D-1845-08	4483366	57565229	44966163	71	19009											
ZNF592	9640	broad.mit.edu	37	chr15	85326217	85326217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagatctgcctccagatcCccacaactgtgggaaatttg	10	10	8	13	0	2	2	1	0	1	2	4	3	4	3	4	1	2	0	4	1	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85326217C>A	uc002bld.3	+	3	647	c.311C>A	c.(310-312)cCc>cAc	p.P104H	ZNF592_uc010upb.2_Non-coding_Transcript	NM_014630	NP_055445	Q92610	ZN592_HUMAN	Homo sapiens zinc finger protein 592 (ZNF592), mRNA.	104					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTCCAGATCCCCACAACTGT	0.512													A	85326217	C	A	85326217	3	1	271	1	0	0	0	0	1	0	0	0	18123	623	22	4	313	4	ZNF592	15	85326217	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	27760988	85326217	17205175	72	19010											
SLC28A1	9154	broad.mit.edu	37	chr15	85478601	85478601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcttgatgggtgtggCgtgggaggactgcccagtgg	5	10	18	8	1	1	1	0	1	1	0	1	3	1	3	2	5	2	0	2	5	0	2	rs116070802	by1000genomes	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:85478601C>T	uc002blg.3	+	14	1635	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V	SLC28A1_uc010bnb.3_Missense_Mutation_p.A478V|SLC28A1_uc010upe.2_Intron|SLC28A1_uc010upf.1_Missense_Mutation_p.A478V|SLC28A1_uc010upg.1_Missense_Mutation_p.A478V	NM_004213	NP_004204	O00337	S28A1_HUMAN	Homo sapiens solute carrier family 28 (sodium-coupled nucleoside transporter), member 1 (SLC28A1), transcript variant 1, mRNA.	478					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ATGGGTGTGGCGTGGGAGGAC	0.597													T	85478601	C	T	85478601	3	4	271	1	0	0	0	0	1	0	0	0	14625	768	27	1	1554	1	SLC28A1	15	85478601	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	152384	85478601	17052791	73	19011											
CRTC3	64784	broad.mit.edu	37	chr15	91184403	91184403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagcccgtattccaactgCgggagtctcccgaacaccat	10	7	8	16	3	1	0	0	0	1	0	3	2	2	1	5	1	4	1	5	1	4	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr15:91184403C>T	uc002bpp.3	+	13	1729	c.1623C>T	c.(1621-1623)tgC>tgT	p.C541C	CRTC3_uc002bpo.3_Silent_p.C541C	NM_022769	NP_073606	Q6UUV7	CRTC3_HUMAN	Homo sapiens CREB regulated transcription coactivator 3 (CRTC3), transcript variant 1, mRNA.	541					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			ATTCCAACTGCGGGAGTCTCC	0.507			T	MAML2	salivary gland mucoepidermoid								T	91184403	C	T	91184403	2	4	271	1	0	0	0	0	0	0	0	1	3932	776	27	1		1	CRTC3	15	91184403	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	5705802	91184403	11346989	74	19012											
WDR90	197335	broad.mit.edu	37	chr16	711897	711897	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatactttgccaggtgcgtCgagagccagtcccagaggca	9	8	12	12	2	1	2	1	0	0	2	3	3	2	2	3	2	4	1	3	2	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:711897C>T	uc002cii.1	+	31	3925	c.3871C>T	c.(3871-3873)Cga>Tga	p.R1291*	WDR90_uc002cij.1_Intron|WDR90_uc002cik.1_Nonsense_Mutation_p.R818*|WDR90_uc002cil.1_Non-coding_Transcript|WDR90_uc002cim.1_Nonsense_Mutation_p.R465*|WDR90_uc002cin.1_5'UTR	NM_145294	NP_660337	Q96KV7	WDR90_HUMAN	Homo sapiens WD repeat domain 90 (WDR90), mRNA.	1291										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CCAGGTGCGTCGAGAGCCAGT	0.637													T	711897	C	T	711897	4	4	271	1	0	0	0	0	0	1	0	0	17439	876	31	1	3997	1	WDR90	16	711897	Nonsense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		711897	89642856	75	19013											
MLST8	64223	broad.mit.edu	37	chr16	2256621	2256621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacggccgctggatgtacaCgggcggcgaggactgcacag	9	4	17	11	5	0	1	0	0	0	1	0	4	0	3	1	5	2	3	1	5	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2256621C>T	uc002coy.3	+	3	696	c.305C>T	c.(304-306)aCg>aTg	p.T102M	MLST8_uc002cpc.3_Missense_Mutation_p.T102M|MLST8_uc010uvx.2_Missense_Mutation_p.T36M|MLST8_uc002cpd.3_Missense_Mutation_p.T36M|MLST8_uc002cpb.3_Missense_Mutation_p.T101M|MLST8_uc002coz.3_Missense_Mutation_p.T102M|MLST8_uc002cpe.3_Missense_Mutation_p.T102M|MLST8_uc010uvy.2_Missense_Mutation_p.T102M|MLST8_uc002cpf.3_Missense_Mutation_p.T102M|MLST8_uc002cph.3_Non-coding_Transcript	NM_022372	NP_071767	Q9BVC4	LST8_HUMAN	Homo sapiens MTOR associated protein, LST8 homolog (S. cerevisiae) (MLST8), transcript variant 1, mRNA.	102					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGATGTACACGGGCGGCGAG	0.632													T	2256621	C	T	2256621	3	4	271	1	0	0	0	0	1	0	0	0	9709	536	19	1	315	1	MLST8	16	2256621	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1544724	2256621	88098132	76	19014											
CCNF	899	broad.mit.edu	37	chr16	2506722	2506722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacccaaacccctggtcCgcaccagccgggagccaggg	8	3	13	17	2	0	0	0	0	0	0	1	2	1	2	7	4	3	1	7	4	1	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:2506722C>T	uc002cqd.1	+	16	2150	c.2062C>T	c.(2062-2064)Cgc>Tgc	p.R688C	CCNF_uc002cqe.1_Missense_Mutation_p.R380C	NM_001761	NP_001752	P41002	CCNF_HUMAN	Homo sapiens cyclin F (CCNF), mRNA.	688	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				ACCCCTGGTCCGCACCAGCCG	0.662													T	2506722	C	T	2506722	3	4	271	1	0	0	0	0	1	0	0	0	2952	652	23	1	2128	1	CCNF	16	2506722	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	250101	2506722	87848031	77	19015											
GOT2	2806	broad.mit.edu	37	chr16	58752174	58752174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggattgtgggcgcaggcatGcagaagaagaacactctgct	11	7	15	8	1	1	3	0	0	1	3	1	4	1	4	0	3	3	4	0	3	3	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:58752174G>A	uc002eof.1	-	5	742	c.628C>T	c.(628-630)Cat>Tat	p.H210Y	GOT2_uc010vim.1_Missense_Mutation_p.H167Y	NM_002080	NP_002071	P00505	AATM_HUMAN	Homo sapiens glutamic-oxaloacetic transaminase 2, mitochondrial (aspartate aminotransferase 2) (GOT2), nuclear gene encoding mitochondrial protein, mRNA.	210					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.H210R(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)	GCGCAGGCATGCAGAAGAAGA	0.498													A	58752174	G	A	58752174	3	1	271	1	0	0	0	0	1	0	0	0	6634	1319	46	2	684	2	GOT2	16	58752174	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	56245452	58752174	31602579	78	19016											
CNTNAP4	85445	broad.mit.edu	37	chr16	76486640	76486640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcgaatctctaccagccagGaaaattacccagtgacatca	14	8	7	12	1	2	1	1	1	1	0	4	3	2	2	3	1	3	0	3	1	5	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:76486640G>A	uc002fex.1	+	6	1455	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E	CNTNAP4_uc002feu.1_Missense_Mutation_p.G435E|CNTNAP4_uc002fev.1_Missense_Mutation_p.G300E|CNTNAP4_uc010chb.1_Missense_Mutation_p.G363E|CNTNAP4_uc002few.2_Missense_Mutation_p.G411E	NM_033401	NP_207837	Q9C0A0	CNTP4_HUMAN	Homo sapiens contactin associated protein-like 4 (CNTNAP4), transcript variant 1, mRNA.	436	Laminin G-like 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TACCAGCCAGGAAAATTACCC	0.428													A	76486640	G	A	76486640	3	1	271	1	0	0	0	0	1	0	0	0	3680	1174	41	2	1350	2	CNTNAP4	16	76486640	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	17734466	76486640	13868113	79	19017											
ZC3H18	124245	broad.mit.edu	37	chr16	88688687	88688687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtggaaggacccttggCgccgatccaagtctcccaag	10	7	12	12	2	1	1	0	1	1	0	3	4	2	3	4	3	0	0	4	3	3	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr16:88688687C>T	uc010voz.2	+	9	1830	c.1630C>T	c.(1630-1632)Cgc>Tgc	p.R544C	ZC3H18_uc002fky.3_Missense_Mutation_p.R520C|ZC3H18_uc010chw.3_Non-coding_Transcript	NM_144604	NP_653205	Q86VM9	ZCH18_HUMAN	Homo sapiens zinc finger CCCH-type containing 18 (ZC3H18), mRNA.	520	Ser-rich.					nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		GGACCCTTGGCGCCGATCCAA	0.602													T	88688687	C	T	88688687	3	4	271	1	0	0	0	0	1	0	0	0	17669	768	27	1	1588	1	ZC3H18	16	88688687	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	12202047	88688687	1666066	80	19018											
PITPNM3	83394	broad.mit.edu	37	chr17	6376097	6376097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggcagaggggtctgCgcaatggaagaagctgtaga	11	6	17	7	2	1	4	0	1	1	3	1	5	1	5	1	4	2	4	1	4	4	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:6376097C>T	uc002gdd.4	-	10	1460	c.1309G>A	c.(1309-1311)Gca>Aca	p.A437T	PITPNM3_uc010cln.3_Missense_Mutation_p.A401T|PITPNM3_uc010clm.3_5'UTR|PITPNM3_uc002gdc.4_Missense_Mutation_p.A28T	NM_031220	NP_112497	Q9BZ71	PITM3_HUMAN	Homo sapiens PITPNM family member 3 (PITPNM3), transcript variant 1, mRNA.	437	DDHD.				phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		GAGGGGTCTGCGCAATGGAAG	0.632													T	6376097	C	T	6376097	3	4	271	1	0	0	0	0	1	0	0	0	12029	768	27	1	1655	1	PITPNM3	17	6376097	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08		6376097	74819113	81	19019											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:7578457C>T	uc002gim.2	-	4	667	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_uc002gig.1_Missense_Mutation_p.R158H|TP53_uc002gih.3_Missense_Mutation_p.R158H|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R26H|TP53_uc010cnf.1_Missense_Mutation_p.R26H|TP53_uc002gii.1_Missense_Mutation_p.R26H|TP53_uc010cni.1_Missense_Mutation_p.R158H|TP53_uc010cnh.1_Missense_Mutation_p.R158H|TP53_uc002gij.2_Missense_Mutation_p.R158H|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R65H|TP53_uc002gio.2_Missense_Mutation_p.R26H|TP53_uc010vug.2_Missense_Mutation_p.R119H	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V157F(151)|p.R158H(140)|p.R158L(138)|p.R158P(18)|p.R158C(18)|p.R158G(12)|p.V157I(10)|p.R158fs*11(9)|p.R65L(8)|p.V157D(8)|p.R158fs(8)|p.0?(8)|p.R26L(8)|p.R158_A159insX(8)|p.V157G(7)|p.V157L(6)|p.R158R(6)|p.R158fs*12(6)|p.V157V(5)|p.R65H(5)|p.R26H(5)|p.R158_A159delRA(4)|p.R156_I162delRVRAMAI(4)|p.V157fs*9(4)|p.V157fs*22(4)|p.V157fs*13(3)|p.V157_C176del20(2)|p.R65fs(2)|p.R156_A161delRVRAMA(2)|p.R158F(2)|p.P151_V173del23(2)|p.R156_R158delRVR(2)|p.V157del(2)|p.R156_A161del(2)|p.P153fs*22(2)|p.V157_M160delVRAM(2)|p.V157_R158delVR(2)|p.T155_A161delTRVRAMA(2)|p.R26fs(2)|p.V157_I162delVRAMAI(2)|p.V157fs*21(2)|p.R158fs*8(2)|p.V157fs*24(2)|p.R158fs*24(1)|p.R156_V157del(1)|p.R156_V157insV(1)|p.R156fs*18(1)|p.V157A(1)|p.R26fs*11(1)|p.R158_A159insXX(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R158_A161del(1)|p.R156fs*20(1)|p.V157fs*25(1)|p.V157fs*23(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			T	7578457	C	T	7578457	3	4	271	1	0	0	0	0	1	0	0	0	16482	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	1202360	7578457	73616753	82	19020											
MED13	9969	broad.mit.edu	37	chr17	60072508	60072512	+	Splice_Site	DEL	CTTAC	CTTAC	-																															tttggtgtactgtgatttctCttaccttgtgtttttttcca																										TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:60072508_60072512delCTTAC	uc002izo.3	-	10	2258	c.2181_splice	c.e10+1	p.K727_splice		NM_005121	NP_005112	Q9UHV7	MED13_HUMAN	Homo sapiens mediator complex subunit 13 (MED13), mRNA.	727					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TGTGATTTCTCTTACCTTGTGTTTT	0.346													-	60072512	CTTAC	-	60072508	8	5	271	1	0	1	0	1	0	0	1	0	9505	928	32	0		0	MED13	17	60072508	Splice_Site	DEL	CTTAC	TCGA-76-6283-01A-11D-1845-08	52494051	60072508	21122702	83	19021											
FSCN2	25794	broad.mit.edu	37	chr17	79503762	79503762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagctggacaccaaccgctCcgtctacgacgtcttccacc	8	7	7	19	4	2	0	0	0	2	0	4	2	4	1	6	1	3	2	6	1	2	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr17:79503762C>T	uc010wuo.2	+	3	1433	c.1292C>T	c.(1291-1293)tCc>tTc	p.S431F	FSCN2_uc010wup.2_Missense_Mutation_p.S407F	NM_001077182	NP_001070650	O14926	FSCN2_HUMAN	Homo sapiens fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus) (FSCN2), transcript variant 2, mRNA.	407					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCAACCGCTCCGTCTACGAC	0.701													T	79503762	C	T	79503762	3	4	271	1	0	0	0	0	1	0	0	0	6120	855	30	2	1145	2	FSCN2	17	79503762	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	19431254	79503762	1691448	84	19022											
LAMA3	3909	broad.mit.edu	37	chr18	21441699	21441699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcaacagtatggtggcGgatctccaggagctgcccgc	8	6	15	12	2	1	0	0	0	1	0	2	2	1	2	2	5	4	4	2	5	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr18:21441699G>A	uc002kuq.3	+	34	4598	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	LAMA3_uc002kur.3_Silent_p.A1504A	NM_198129	NP_937762	Q16787	LAMA3_HUMAN	Homo sapiens laminin, alpha 3 (LAMA3), transcript variant 1, mRNA.	1504	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTATGGTGGCGGATCTCCAGG	0.587													A	21441699	G	A	21441699	2	1	271	1	0	0	0	0	0	0	0	1	8666	1103	39	1		1	LAMA3	18	21441699	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		21441699	56635549	85	19023											
DPP9	91039	broad.mit.edu	37	chr19	4704202	4704202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgctggcctggaagaGgaagaggccactctcgctgt	7	9	15	10	1	1	2	0	0	1	2	2	4	1	4	2	4	1	4	2	4	2	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:4704202G>A	uc002mba.3	-	5	799	c.541C>T	c.(541-543)Ctc>Ttc	p.L181F		NM_139159	NP_631898	Q86TI2	DPP9_HUMAN	Homo sapiens dipeptidyl-peptidase 9 (DPP9), mRNA.	152					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCCTGGAAGAGGAAGAGGCCA	0.657													A	4704202	G	A	4704202	3	1	271	1	0	0	0	0	1	0	0	0	4772	1000	35	2	2205	2	DPP9	19	4704202	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		4704202	54424781	86	19024											
VAV1	7409	broad.mit.edu	37	chr19	6828671	6828671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaggtcaagcgagacaaCgagacactgcgacagatcac	16	3	11	11	4	2	3	2	0	0	3	2	7	2	3	0	1	4	0	0	1	3	0	rs61750002		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:6828671C>T	uc002mfu.1	+	11	1228	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	VAV1_uc010xjh.1_Silent_p.N345N|VAV1_uc010dva.1_Silent_p.N377N|VAV1_uc002mfv.1_Silent_p.N322N	NM_005428	NP_005419	P15498	VAV_HUMAN	Homo sapiens vav 1 guanine nucleotide exchange factor (VAV1), mRNA.	377					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AGCGAGACAACGAGACACTGC	0.637													T	6828671	C	T	6828671	2	4	271	1	0	0	0	0	0	0	0	1	17233	535	19	1		1	VAV1	19	6828671	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2124469	6828671	52300312	87	19025											
IL12RB1	3594	broad.mit.edu	37	chr19	18174730	18174730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagacacccctcagccacGctgtgtctgctcgcacctgc	6	8	8	19	2	2	1	1	0	1	1	4	1	3	1	5	0	3	3	5	0	0	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:18174730G>A	uc002nhx.1	-	13	1745	c.1694C>T	c.(1693-1695)gCg>gTg	p.A565V	IL12RB1_uc002nhw.1_Missense_Mutation_p.A525V|IL12RB1_uc010xqb.1_Missense_Mutation_p.A525V	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	525					cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGCCACGCTGTGTCTGC	0.632													A	18174730	G	A	18174730	3	1	271	1	0	0	0	0	1	0	0	0	7684	1087	38	1	434	1	IL12RB1	19	18174730	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	11346059	18174730	40954253	88	19026											
IGFL3	388555	broad.mit.edu	37	chr19	46627409	46627409	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcctgagccaacaggAgcgtctgggggcagacattg	10	6	14	11	1	1	2	0	1	1	1	2	3	2	3	2	3	3	1	2	3	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:46627409A>T	uc002pea.1	-	2	109	c.84T>A	c.(82-84)gcT>gcA	p.A28A		NM_207393	NP_997276	Q6UXB1	IGFL3_HUMAN	Homo sapiens IGF-like family member 3 (IGFL3), mRNA.	28						extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		AGCCAACAGGAGCGTCTGGGG	0.507													T	46627409	A	T	46627409	2	4	271	1	0	0	0	0	0	0	0	1	7646	291	11	5		5	IGFL3	19	46627409	Silent	SNP	A	TCGA-76-6283-01A-11D-1845-08	28452679	46627409	12501574	89	19027											
SULT2B1	6820	broad.mit.edu	37	chr19	49090651	49090651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcatgagctcccatcttcCcatccagatcttcaccaagg	9	10	5	17	0	4	2	2	1	2	1	7	2	7	2	5	1	1	1	5	1	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:49090651C>T	uc002pjl.3	+	2	461	c.380C>T	c.(379-381)cCc>cTc	p.P127L	SULT2B1_uc002pjm.3_Missense_Mutation_p.P112L	NM_177973	NP_814444	O00204	ST2B1_HUMAN	Homo sapiens sulfotransferase family, cytosolic, 2B, member 1 (SULT2B1), transcript variant 2, mRNA.	127					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		TCCCATCTTCCCATCCAGATC	0.612													T	49090651	C	T	49090651	3	4	271	1	0	0	0	0	1	0	0	0	15478	623	22	2	416	2	SULT2B1	19	49090651	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2463242	49090651	10038332	90	19028											
KLK9	284366	broad.mit.edu	37	chr19	51509764	51509764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgagacactgcatgcctGgggagacacaggtctggctg	10	7	15	9	0	1	3	0	1	1	3	1	5	1	3	1	4	2	2	1	4	0	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51509764G>A	uc002pux.1	-	2	503	c.416C>T	c.(415-417)cCa>cTa	p.P139L	KLK9_uc002puw.1_Non-coding_Transcript|KLK9_uc010eol.1_Missense_Mutation_p.P110L|KLK8_uc002puv.1_5'Flank	NM_012315	NP_036447	Q9UKQ9	KLK9_HUMAN	Homo sapiens kallikrein-related peptidase 9 (KLK9), mRNA.	139	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7		all_neural(266;0.0652)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CTGCATGCCTGGGGAGACACA	0.602													A	51509764	G	A	51509764	3	1	271	1	0	0	0	0	1	0	0	0	8469	1348	47	2	348	2	KLK9	19	51509764	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	2419113	51509764	7619219	91	19029											
SIGLEC8	27181	broad.mit.edu	37	chr19	51957534	51957534	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatcccccacgcccgctGctggccttgccgatttcttc	3	12	8	18	3	1	0	0	0	1	0	3	1	2	0	5	1	2	3	5	1	1	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:51957534G>T	uc002pwt.3	-	5	1251	c.1184C>A	c.(1183-1185)gCa>gAa	p.A395E	SIGLEC8_uc010yda.2_Missense_Mutation_p.A286E|SIGLEC8_uc002pwu.3_Non-coding_Transcript|SIGLEC8_uc010eox.2_Missense_Mutation_p.A302E	NM_014442	NP_055257	Q9NYZ4	SIGL8_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 8 (SIGLEC8), mRNA.	395					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CACGCCCGCTGCTGGCCTTGC	0.602													T	51957534	G	T	51957534	3	4	271	1	0	0	0	0	1	0	0	0	14408	1319	46	4	323	4	SIGLEC8	19	51957534	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	447770	51957534	7171449	92	19030											
ZNF845	91664	broad.mit.edu	37	chr19	53854579	53854579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaaaatctttccaatgTaatgagagtggcaaagcctt	16	10	9	6	0	1	2	0	1	1	2	2	4	2	2	2	1	1	2	2	1	5	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:53854579T>C	uc010ydv.1	+	3	768	c.651T>C	c.(649-651)tgT>tgC	p.C217C	ZNF845_uc010ydw.1_Silent_p.C217C	NM_138374	NP_612383	Q96IR2	ZN845_HUMAN	Homo sapiens zinc finger protein 845 (ZNF845), mRNA.	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTTCCAATGTAATGAGAGTG	0.353													C	53854579	T	C	53854579	2	2	271	1	0	0	0	0	0	0	0	1	18290	1644	57	3		3	ZNF845	19	53854579	Silent	SNP	T	TCGA-76-6283-01A-11D-1845-08	1897045	53854579	5274404	93	19031											
NLRP9	338321	broad.mit.edu	37	chr19	56241342	56241342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagctcccgccagtagaCgagcttctcattgtaactat	11	10	8	12	2	1	1	1	0	1	1	3	2	2	1	2	0	3	5	2	0	4	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr19:56241342C>T	uc002qly.3	-	2	1877	c.1849G>A	c.(1849-1851)Gtc>Atc	p.V617I		NM_176820	NP_789790	Q7RTR0	NALP9_HUMAN	Homo sapiens NLR family, pyrin domain containing 9 (NLRP9), mRNA.	617						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CGCCAGTAGACGAGCTTCTCA	0.418													T	56241342	C	T	56241342	3	4	271	1	0	0	0	0	1	0	0	0	10560	536	19	1	1154	1	NLRP9	19	56241342	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	2386763	56241342	2887641	94	19032											
TSHZ2	128553	broad.mit.edu	37	chr20	51870661	51870661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgccgacagtgcagcGcggcctatgacaccctagtc	8	7	11	15	4	0	1	0	1	0	0	2	3	1	1	4	1	3	1	4	1	2	2	rs141167641	by1000genomes	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:51870661G>A	uc002xwo.3	+	1	1551	c.664G>A	c.(664-666)Gcg>Acg	p.A222T	TSHZ2_uc021wex.1_Missense_Mutation_p.A219T	NM_173485	NP_775756	Q9NRE2	TSH2_HUMAN	Homo sapiens teashirt zinc finger homeobox 2 (TSHZ2), transcript variant 1, mRNA.	222					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A222T(2)|p.A222V(1)		NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			ACAGTGCAGCGCGGCCTATGA	0.562													A	51870661	G	A	51870661	3	1	271	1	0	0	0	0	1	0	0	0	16725	1087	38	1	670	1	TSHZ2	20	51870661	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08		51870661	11154859	95	19033											
PCK1	5105	broad.mit.edu	37	chr20	56137157	56137157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgaccccagggatgtGgccaggatcgaaagcaagac	12	5	12	12	1	1	2	1	1	0	1	2	5	1	4	3	3	1	1	3	3	2	0			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:56137157G>A	uc002xyn.4	+	2	418	c.255G>A	c.(253-255)gtG>gtA	p.V85V	PCK1_uc010zzm.2_Intron	NM_002591	NP_002582	P35558	PCKGC_HUMAN	Homo sapiens phosphoenolpyruvate carboxykinase 1 (soluble) (PCK1), mRNA.	85					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CCAGGGATGTGGCCAGGATCG	0.572													A	56137157	G	A	56137157	2	1	271	1	0	0	0	0	0	0	0	1	11657	1335	47	2		2	PCK1	20	56137157	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08	4266496	56137157	6888363	96	19034											
SYCP2	10388	broad.mit.edu	37	chr20	58467201	58467201	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcttcctatatatcagCgattcttcaattgtcttatt	9	21	3	8	1	5	0	2	0	3	0	6	1	6	0	1	0	1	0	1	0	6	11			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr20:58467201C>T	uc002yaz.3	-	22	2347	c.2208G>A	c.(2206-2208)tcG>tcA	p.S736S		NM_014258	NP_055073	Q9BX26	SYCP2_HUMAN	Homo sapiens synaptonemal complex protein 2 (SYCP2), mRNA.	736					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding	p.S736L(1)		NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TATATATCAGCGATTCTTCAA	0.348													T	58467201	C	T	58467201	2	4	271	1	0	0	0	0	0	0	0	1	15529	755	27	1		1	SYCP2	20	58467201	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	2330044	58467201	4558319	97	19035											
KRTAP26-1	388818	broad.mit.edu	37	chr21	31692021	31692021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatacctctgtggtctacaGgatactggaaggcaggaact	12	9	11	9	0	2	0	0	0	2	0	2	3	2	3	1	5	4	1	1	5	5	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chr21:31692021G>A	uc002ynw.3	-	0	587	c.333C>T	c.(331-333)tcC>tcT	p.S111S		NM_203405	NP_981950	Q6PEX3	KR261_HUMAN	Homo sapiens keratin associated protein 26-1 (KRTAP26-1), mRNA.	111						intermediate filament				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16						GTGGTCTACAGGATACTGGAA	0.547													A	31692021	G	A	31692021	2	1	271	1	0	0	0	0	0	0	0	1	8602	987	35	2		2	KRTAP26-1	21	31692021	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		31692021	16437874	98	19036											
KAL1	3730	broad.mit.edu	37	chrX	8555862	8555862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtctgccagtgagtggcGtcatcttcgctaggatggat	7	12	13	9	2	3	1	1	1	2	0	4	3	3	3	1	3	1	1	1	3	1	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:8555862G>A	uc004csf.3	-	4	849	c.699C>T	c.(697-699)gaC>gaT	p.D233D		NM_000216	NP_000207	P23352	KALM_HUMAN	Homo sapiens Kallmann syndrome 1 sequence (KAL1), mRNA.	233	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						AGTGAGTGGCGTCATCTTCGC	0.423													A	8555862	G	A	8555862	2	1	271	1	0	0	0	0	0	0	0	1	8032	1136	40	1		1	KAL1	23	8555862	Silent	SNP	G	TCGA-76-6283-01A-11D-1845-08		8555862	146714698	99	19037											
BEND2	139105	broad.mit.edu	37	chrX	18238990	18238990	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtaactgcgtacactcGttgtccgaggcacaatgagg	9	10	13	9	3	0	1	0	1	0	0	2	2	1	1	1	3	3	4	1	3	3	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:18238990G>A	uc004cyj.4	-	0					BEND2_uc010nfb.2_5'UTR	NM_153346	NP_699177	Q8NDZ0	BEND2_HUMAN	Homo sapiens BEN domain containing 2 (BEND2), transcript variant 1, mRNA.											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCGTACACTCGTTGTCCGAGG	0.647													A	18238990	G	A	18238990	1	1	271	1	0	0	0	0	0	0	0	0	1403	1160	40	1		1	BEND2	23	18238990	Translation_Start_Site	SNP	G	TCGA-76-6283-01A-11D-1845-08	9683128	18238990	137031570	100	19038											
ARHGEF9	23229	broad.mit.edu	37	chrX	62875413	62875413	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattttcctctcttctcTgaaagccctgagccagcgta	8	13	6	14	1	2	2	0	2	2	0	5	2	3	2	4	0	4	1	4	0	3	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:62875413T>C	uc004dvl.2	-	7	2100	c.1261A>G	c.(1261-1263)Aga>Gga	p.R421G	ARHGEF9_uc011mos.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvk.1_Missense_Mutation_p.R239G|ARHGEF9_uc004dvm.1_Missense_Mutation_p.R400G|ARHGEF9_uc004dvj.2_Missense_Mutation_p.R319G|ARHGEF9_uc011mot.2_Missense_Mutation_p.R368G|ARHGEF9_uc004dvn.3_Missense_Mutation_p.R428G	NM_015185	NP_001166951	O43307	ARHG9_HUMAN	Homo sapiens Cdc42 guanine nucleotide exchange factor (GEF) 9 (ARHGEF9), transcript variant 1, mRNA.	421	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTCTCTTCTCTGAAAGCCCTG	0.413													C	62875413	T	C	62875413	3	2	271	1	0	0	0	0	1	0	0	0	915	1588	55	3	301	3	ARHGEF9	23	62875413	Missense_Mutation	SNP	T	TCGA-76-6283-01A-11D-1845-08	44636423	62875413	92395147	101	19039											
LAS1L	81887	broad.mit.edu	37	chrX	64749656	64749656	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttgatcctcttcctctAtcccttccctgaactcctcc	4	15	2	20	0	3	2	0	2	3	0	9	2	9	2	7	0	1	0	7	0	2	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:64749656A>T	uc004dwa.2	-	4	708	c.617T>A	c.(616-618)aTa>aAa	p.I206K	LAS1L_uc004dwc.2_Missense_Mutation_p.I206K|LAS1L_uc004dwd.2_Missense_Mutation_p.I164K	NM_031206	NP_112483	Q9Y4W2	LAS1L_HUMAN	Homo sapiens LAS1-like (S. cerevisiae) (LAS1L), transcript variant 1, mRNA.	206						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CTCTTCCTCTATCCCTTCCCT	0.488													T	64749656	A	T	64749656	3	4	271	1	0	0	0	0	1	0	0	0	8695	449	16	5	1627	5	LAS1L	23	64749656	Missense_Mutation	SNP	A	TCGA-76-6283-01A-11D-1845-08	1874243	64749656	90520904	102	19040											
MED12	9968	broad.mit.edu	37	chrX	70357763	70357763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcaccagcaggcccccaCctatggacatggactgacct	9	7	10	15	0	0	1	0	1	0	0	0	3	0	3	5	3	2	2	5	3	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:70357763C>A	uc004dyy.3	+	40	6213	c.6014C>A	c.(6013-6015)aCc>aAc	p.T2005N	MED12_uc011mpq.1_Missense_Mutation_p.T1980N|MED12_uc004dyz.3_Missense_Mutation_p.T2004N|MED12_uc004dza.3_Missense_Mutation_p.T1855N|MED12_uc010nla.3_Missense_Mutation_p.T634N	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	2005	Gln-rich.|Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CAGGCCCCCACCTATGGACAT	0.547			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70357763	C	A	70357763	3	1	271	1	0	0	0	0	1	0	0	0	9503	507	18	4	6176	4	MED12	23	70357763	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5608107	70357763	84912797	103	19041											
TBX22	50945	broad.mit.edu	37	chrX	79282236	79282236	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcataagtacaaacccCgagtgcacgtgatagagcaa	15	6	9	11	2	0	2	0	1	0	1	0	3	0	2	3	0	5	4	3	0	5	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:79282236C>A	uc010nmg.1	+	5	801	c.667C>A	c.(667-669)Cga>Aga	p.R223R	TBX22_uc004edi.1_Silent_p.R103R|TBX22_uc004edj.1_Silent_p.R223R	NM_001109878	NP_001103349	Q9Y458	TBX22_HUMAN	Homo sapiens T-box 22 (TBX22), transcript variant 1, mRNA.	223					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R223*(2)|p.P222H(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						GTACAAACCCCGAGTGCACGT	0.453													A	79282236	C	A	79282236	2	1	271	1	0	0	0	0	0	0	0	1	15758	644	23	4		4	TBX22	23	79282236	Silent	SNP	C	TCGA-76-6283-01A-11D-1845-08	8924473	79282236	75988324	104	19042											
KLHL4	56062	broad.mit.edu	37	chrX	86890583	86890583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatatgctattggtggacGtgatggaagttcctgcctca	9	14	11	7	1	1	1	1	1	0	0	2	3	2	3	2	3	2	2	2	3	4	5			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:86890583G>A	uc004efa.2	+	8	1915	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	KLHL4_uc004efb.2_Missense_Mutation_p.R578H	NM_057162	NP_476503	Q9C0H6	KLHL4_HUMAN	Homo sapiens kelch-like 4 (Drosophila) (KLHL4), transcript variant 2, mRNA.	578						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						ATTGGTGGACGTGATGGAAGT	0.393													A	86890583	G	A	86890583	3	1	271	1	0	0	0	0	1	0	0	0	8449	1145	40	1	1767	1	KLHL4	23	86890583	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	7608347	86890583	68379977	105	19043											
PCDH11X	27328	broad.mit.edu	37	chrX	91133806	91133806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagaattctgaatgggctaCcccaaacccagaaaacaggc	15	5	9	12	0	1	3	0	1	1	2	1	3	1	3	3	2	3	2	3	2	6	2			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:91133806C>T	uc004efk.2	+	1	3412	c.2567C>T	c.(2566-2568)aCc>aTc	p.T856I	PCDH11X_uc004efl.2_Missense_Mutation_p.T856I|PCDH11X_uc010nmv.2_Missense_Mutation_p.T856I|PCDH11X_uc004efm.2_Missense_Mutation_p.T856I|PCDH11X_uc004efn.2_Missense_Mutation_p.T856I|PCDH11X_uc004efo.2_Missense_Mutation_p.T856I|PCDH11X_uc004efh.2_Missense_Mutation_p.T856I|PCDH11X_uc004efj.1_Missense_Mutation_p.T856I	NM_032968	NP_116750	Q9BZA7	PC11X_HUMAN	Homo sapiens protocadherin 11 X-linked (PCDH11X), transcript variant c, mRNA.	856					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GAATGGGCTACCCCAAACCCA	0.403													T	91133806	C	T	91133806	3	4	271	1	0	0	0	0	1	0	0	0	11584	507	18	2	2573	2	PCDH11X	23	91133806	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	4243223	91133806	64136754	106	19044											
TAF7L	54457	broad.mit.edu	37	chrX	100541563	100541563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggatattaactacttacGcaataagtcaatttttagtt	15	16	5	5	1	1	0	1	0	0	0	1	1	1	1	0	1	3	2	0	1	9	9	rs149116664		TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:100541563G>A	uc004ehb.3	-	3	429	c.403_splice	c.e3+1	p.P135_splice	TAF7L_uc004eha.3_Splice_Site_p.P49_splice|TAF7L_uc004ehc.2_Splice_Site_p.P49_splice	NM_024885	NP_001161946	Q5H9L4	TAF7L_HUMAN	Homo sapiens TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa (TAF7L), transcript variant 1, mRNA.	135					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						AACTACTTACGCAATAAGTCA	0.333													A	100541563	G	A	100541563	3	1	271	1	0	0	0	0	1	0	0	0	15630	1101	38	1	1029	1	TAF7L	23	100541563	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	9407757	100541563	54728997	107	19045											
ACSL4	2182	broad.mit.edu	37	chrX	108924259	108924259	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatcccaactcttctactGattgcatgctgtgaatctca	10	14	6	11	0	3	3	1	2	3	1	5	3	4	3	1	0	4	2	1	0	4	4			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:108924259G>T	uc004eoi.2	-	6	1251	c.746C>A	c.(745-747)tCa>tAa	p.S249*	ACSL4_uc004eoj.2_Nonsense_Mutation_p.S208*|ACSL4_uc004eok.2_Nonsense_Mutation_p.S208*|ACSL4_uc010npp.1_Nonsense_Mutation_p.S249*	NM_022977	NP_004449	O60488	ACSL4_HUMAN	Homo sapiens acyl-CoA synthetase long-chain family member 4 (ACSL4), transcript variant 2, mRNA.	249					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CTCTTCTACTGATTGCATGCT	0.333													T	108924259	G	T	108924259	4	4	271	1	0	0	0	0	0	1	0	0	179	1294	45	4	1433	4	ACSL4	23	108924259	Nonsense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	8382696	108924259	46346301	108	19046											
UPF3B	65109	broad.mit.edu	37	chrX	118975081	118975084	+	Frame_Shift_Del	DEL	TCTG	TCTG	-																															aatttgtccctttctggaatTctgtctatcttctttagctt																								rs142862074	byFrequency	TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:118975081_118975084delTCTG	uc004erz.2	-	6	862_865	c.762_765delCAGA	c.(760-765)gacagafs	p.D254fs	UPF3B_uc004esa.2_Frame_Shift_Del_p.D254fs	NM_080632	NP_542199	Q9BZI7	REN3B_HUMAN	Homo sapiens UPF3 regulator of nonsense transcripts homolog B (yeast) (UPF3B), transcript variant 1, mRNA.	254	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding	p.R255K(2)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						TTTCTGGAATTCTGTCTATCTTCT	0.328													-	118975084	TCTG	-	118975081	7	5	271	1	0	1	0	1	0	0	0	0	17108	1780	62	0	706	0	UPF3B	23	118975081	Frame_Shift_Del	DEL	TCTG	TCGA-76-6283-01A-11D-1845-08	10050822	118975081	36295479	109	19047											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685564	125685564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccctctcgagaacacaggGgccggatgttctgctggtcc	7	8	12	14	2	2	1	0	0	2	1	4	3	3	2	3	4	2	2	3	4	1	1			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:125685564G>A	uc022cds.1	-	0	1028	c.1028C>T	c.(1027-1029)cCc>cTc	p.P343L	DCAF12L1_uc004eul.3_Missense_Mutation_p.P343L	NM_178470	NP_848565	Q5VU92	DC121_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 12-like 1 (DCAF12L1), mRNA.	343										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						AGAACACAGGGGCCGGATGTT	0.602													A	125685564	G	A	125685564	3	1	271	1	0	0	0	0	1	0	0	0	4298	1232	43	2	367	2	DCAF12L1	23	125685564	Missense_Mutation	SNP	G	TCGA-76-6283-01A-11D-1845-08	6710483	125685564	29584996	110	19048											
MST4	51765	broad.mit.edu	37	chrX	131207025	131207025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacgctagcaggaatcaggCgattgaagaactcgagaaaa	17	6	11	7	3	1	3	1	1	0	2	2	6	1	4	0	2	3	2	0	2	7	3			TCGA-76-6283-01A-11D-1845-08	TCGA-76-6283-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4083f8b-0c39-4d65-a372-b494caf84f8d	e66a84ab-f82a-4b35-a820-29122856f23e	g.chrX:131207025C>T	uc004ewk.1	+	10	1431	c.1130C>T	c.(1129-1131)gCg>gTg	p.A377V	MST4_uc004ewl.1_Missense_Mutation_p.A300V|MST4_uc011mux.1_Missense_Mutation_p.A399V|MST4_uc010nrj.1_Missense_Mutation_p.A353V|MST4_uc004ewm.1_Missense_Mutation_p.A315V	NM_016542	NP_057626	Q9P289	MST4_HUMAN	Homo sapiens serine/threonine protein kinase MST4 (MST4), transcript variant 1, mRNA.	377					cellular component disassembly involved in apoptosis|regulation of apoptosis	cytosol|Golgi membrane	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(192;0.000127)					AGGAATCAGGCGATTGAAGAA	0.358													T	131207025	C	T	131207025	3	4	271	1	0	0	0	0	1	0	0	0	9968	768	27	1	1168	1	MST4	23	131207025	Missense_Mutation	SNP	C	TCGA-76-6283-01A-11D-1845-08	5521461	131207025	24063535	111	19049											
LOC649330	649330	broad.mit.edu	37	chr1	12908039	12908039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatacttggaaaagatcGcctccacatccgatttcttg	10	12	7	12	2	1	1	0	0	1	1	4	3	3	2	4	1	2	0	4	1	3	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:12908039G>A	uc010obf.2	-	1	330	c.104C>T	c.(103-105)gCg>gTg	p.A35V	LOC649330_uc009vno.2_Missense_Mutation_p.A35V	NM_001013631	NP_001013653	B7ZW38	B7ZW38_HUMAN	Homo sapiens heterogeneous nuclear ribonucleoprotein C-like 1 (HNRNPCL1), mRNA.	35							nucleic acid binding|nucleotide binding										GGAAAAGATCGCCTCCACATC	0.473													A	12908039	G	A	12908039	3	1	272	1	0	0	0	0	1	0	0	0	8953	1087	38	1	781	1	LOC649330	1	12908039	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		12908039	236342582	1	19050											
CSMD2	114784	broad.mit.edu	37	chr1	34123559	34123559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaccgatgcatgttggCgggctgggctgccagaagaa	8	10	15	8	2	0	2	0	0	0	2	0	3	0	2	2	3	3	5	2	3	3	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:34123559C>T	uc001bxm.1	-	26	4611	c.4434G>A	c.(4432-4434)ccG>ccA	p.P1478P	CSMD2_uc001bxn.1_Silent_p.P1438P|CSMD2_uc001bxo.1_Silent_p.P351P	NM_052896	NP_443128	Q7Z408	CSMD2_HUMAN	Homo sapiens CUB and Sushi multiple domains 2 (CSMD2), mRNA.	1438	CUB 9.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGCATGTTGGCGGGCTGGGCT	0.572													T	34123559	C	T	34123559	2	4	272	1	0	0	0	0	0	0	0	1	3978	755	27	1		1	CSMD2	1	34123559	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	21215520	34123559	215127062	2	19051											
TIE1	7075	broad.mit.edu	37	chr1	43774798	43774798	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccagacggcactgtgcTcctggtcagcccccaatcac	9	6	9	17	1	2	1	2	0	0	1	3	1	3	1	4	2	3	2	4	2	2	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:43774798T>A	uc001ciu.3	+	7	1361	c.1184T>A	c.(1183-1185)cTc>cAc	p.L395H	TIE1_uc010okd.2_Missense_Mutation_p.L395H|TIE1_uc010oke.2_Missense_Mutation_p.L350H|TIE1_uc009vwq.3_Missense_Mutation_p.L351H|TIE1_uc010okf.1_Missense_Mutation_p.L40H|TIE1_uc010okg.2_Missense_Mutation_p.L40H|TIE1_uc010okc.2_Intron	NM_005424	NP_005415	P35590	TIE1_HUMAN	Homo sapiens tyrosine kinase with immunoglobulin-like and EGF-like domains 1 (TIE1), transcript variant 1, mRNA.	395	Ig-like C2-type 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCACTGTGCTCCTGGTCAGC	0.617													A	43774798	T	A	43774798	3	1	272	1	0	0	0	0	1	0	0	0	15993	1551	54	5	1214	5	TIE1	1	43774798	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08	9651239	43774798	205475823	3	19052											
C8A	731	broad.mit.edu	37	chr1	57341829	57341829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtcagggccattgaCgaagactgcagccagtatga	13	7	13	8	1	1	4	1	2	0	2	1	6	1	4	2	1	2	2	2	1	3	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:57341829C>T	uc001cyo.2	+	3	543	c.411C>T	c.(409-411)gaC>gaT	p.D137D		NM_000562	NP_000553	P07357	CO8A_HUMAN	Homo sapiens complement component 8, alpha polypeptide (C8A), mRNA.	137	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GGGCCATTGACGAAGACTGCA	0.532													T	57341829	C	T	57341829	2	4	272	1	0	0	0	0	0	0	0	1	2440	535	19	1		1	C8A	1	57341829	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	13567031	57341829	191908792	4	19053											
FLG	2312	broad.mit.edu	37	chr1	152275685	152275685	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagccatctcttgactgctCccgagaagatccatgatggt	9	10	11	11	1	1	4	0	2	1	2	4	6	3	5	3	2	2	1	3	2	1	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:152275685C>A	uc001ezu.1	-	2	11713	c.11677G>T	c.(11677-11679)Gag>Tag	p.E3893*		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	3893	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R3892L(1)|p.R3892Q(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTTGACTGCTCCCGAGAAGAT	0.537									Ichthyosis				A	152275685	C	A	152275685	4	1	272	1	0	0	0	0	0	1	0	0	5971	864	30	4	512	4	FLG	1	152275685	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	94933856	152275685	96974936	5	19054											
CD1D	912	broad.mit.edu	37	chr1	158153826	158153826	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccggtttaagaggcaaacGtaagtctcccctttcccttt	8	13	7	13	2	1	1	0	0	1	1	4	1	3	1	4	2	1	3	4	2	3	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:158153826G>A	uc001frr.3	+	6	1485	c.986_splice	c.e6+1	p.T329_splice	CD1D_uc009wss.3_Splice_Site_p.T236_splice	NM_001766	NP_001757	P15813	CD1D_HUMAN	Homo sapiens CD1d molecule (CD1D), mRNA.	329					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding	p.?(1)		endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AGAGGCAAACGTAAGTCTCCC	0.512													A	158153826	G	A	158153826	5	1	272	1	0	0	0	0	0	0	1	0	3007	1159	40	1	1005	1	CD1D	1	158153826	Splice_Site	SNP	G	TCGA-76-6285-01A-11D-1696-08	5878141	158153826	91096795	6	19055											
SH3BP5L	80851	broad.mit.edu	37	chr1	249106332	249106332	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaggctgctgccctcctCcagccccgcaccctcggccc	3	5	8	25	2	0	0	0	0	0	0	3	0	2	0	9	2	3	3	9	2	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr1:249106332C>A	uc001iew.1	-	6	1501	c.949G>T	c.(949-951)Gag>Tag	p.E317*	SH3BP5L_uc010pzp.1_Nonsense_Mutation_p.E210*|SH3BP5L_uc001iev.1_Nonsense_Mutation_p.E198*	NM_030645	NP_085148	Q7L8J4	3BP5L_HUMAN	Homo sapiens SH3-binding domain protein 5-like (SH3BP5L), mRNA.	317										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CTGCCCTCCTCCAGCCCCGCA	0.731													A	249106332	C	A	249106332	4	1	272	1	0	0	0	0	0	1	0	0	14341	864	30	4	236	4	SH3BP5L	1	249106332	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	90952506	249106332	144289	7	19056											
SP3	6670	broad.mit.edu	37	chr2	174820235	174820235	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaacaggcaactgtgatgaAgaggatgttggcacaaataa	16	8	12	5	0	0	3	0	2	0	1	0	4	0	4	0	3	2	4	0	3	5	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:174820235A>G	uc002uig.3	-	3	1536	c.1005T>C	c.(1003-1005)tcT>tcC	p.S335S	SP3_uc002uie.3_Silent_p.S267S|SP3_uc002uif.3_Silent_p.S282S|SP3_uc010zel.2_Silent_p.S332S	NM_003111	NP_003102	Q02447	SP3_HUMAN	Homo sapiens Sp3 transcription factor (SP3), transcript variant 1, mRNA.	335					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACTGTGATGAAGAGGATGTTG	0.378													G	174820235	A	G	174820235	2	3	272	1	0	0	0	0	0	0	0	1	15059	59	3	3		3	SP3	2	174820235	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08		174820235	68379138	8	19057											
GPR1	2825	broad.mit.edu	37	chr2	207041266	207041266	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggagatcaggatgcttcGcttcttcaccttgaagatga	10	12	10	9	1	3	4	2	2	1	2	4	6	3	5	1	2	1	2	1	2	1	4	rs34685097		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:207041266G>A	uc021vvl.1	-	0	706	c.706C>T	c.(706-708)Cga>Tga	p.R236*	GPR1_uc002vbl.4_Nonsense_Mutation_p.R236*|GPR1_uc010fue.3_Nonsense_Mutation_p.R236*|GPR1_uc010fuf.3_Nonsense_Mutation_p.R236*	NM_005279	NP_005270	P46091	GPR1_HUMAN	Homo sapiens G protein-coupled receptor 1 (GPR1), transcript variant 1, mRNA.	236						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		AGGATGCTTCGCTTCTTCACC	0.438													A	207041266	G	A	207041266	4	1	272	1	0	0	0	0	0	1	0	0	6675	1095	38	1	365	1	GPR1	2	207041266	Nonsense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	32221031	207041266	36158107	9	19058											
COPS7B	64708	broad.mit.edu	37	chr2	232653347	232653347	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactagccaaaggtaccAgtggctcagccctcactgct	9	11	8	13	0	2	0	2	0	0	0	2	0	2	0	3	2	5	3	3	2	4	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr2:232653347A>T	uc002vsh.1	+	1	170	c.67A>T	c.(67-69)Agt>Tgt	p.S23C	COPS7B_uc010fxy.1_Intron|COPS7B_uc002vsg.1_Missense_Mutation_p.S23C|COPS7B_uc002vsi.1_5'UTR|COPS7B_uc002vsj.1_5'Flank			Q9H9Q2	CSN7B_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 7B (Arabidopsis) (COPS7B), mRNA.	23					cullin deneddylation	cytoplasm|signalosome				large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)	8		all_hematologic(139;0.0123)|Acute lymphoblastic leukemia(138;0.0182)|Renal(207;0.025)		Epithelial(121;1.36e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00136)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAAAGGTACCAGTGGCTCAGC	0.493													T	232653347	A	T	232653347	3	4	272	1	0	0	0	0	1	0	0	0	3770	188	7	5	69	5	COPS7B	2	232653347	Missense_Mutation	SNP	A	TCGA-76-6285-01A-11D-1696-08	25612081	232653347	10546026	10	19059											
CNTN6	27255	broad.mit.edu	37	chr3	1339608	1339608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaaccaaagattgaagtgCgttttcctgaaactatacaa	16	11	7	7	1	0	4	0	3	0	1	1	4	1	4	2	0	4	1	2	0	7	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:1339608C>T	uc003boz.3	+	6	961	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	CNTN6_uc010hbo.2_Missense_Mutation_p.R227C|CNTN6_uc011asj.2_Missense_Mutation_p.R160C|CNTN6_uc003bpa.3_Missense_Mutation_p.R232C	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	232	Ig-like C2-type 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		GATTGAAGTGCGTTTTCCTGA	0.358													T	1339608	C	T	1339608	3	4	272	1	0	0	0	0	1	0	0	0	3676	768	27	1	716	1	CNTN6	3	1339608	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		1339608	196682822	11	19060											
FBLN2	2199	broad.mit.edu	37	chr3	13613045	13613045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacatcactgcctgatgcagCctggatcccacccacccgag	9	6	8	18	1	1	1	1	1	0	0	2	3	2	2	5	1	3	1	5	1	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:13613045C>A	uc011avc.2	+	1	1572	c.1190C>A	c.(1189-1191)gCc>gAc	p.A397D	FBLN2_uc011auz.2_Missense_Mutation_p.A423D|FBLN2_uc011avb.2_Missense_Mutation_p.A397D|FBLN2_uc011ava.2_Missense_Mutation_p.A397D	NM_001165035	NP_001158507	P98095	FBLN2_HUMAN	Homo sapiens fibulin 2 (FBLN2), transcript variant 3, mRNA.	397	N.|Subdomain NB (Cys-free).					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CCTGATGCAGCCTGGATCCCA	0.622													A	13613045	C	A	13613045	3	1	272	1	0	0	0	0	1	0	0	0	5748	739	26	4		4	FBLN2	3	13613045	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	12273437	13613045	184409385	12	19061											
TRH	7200	broad.mit.edu	37	chr3	129696024	129696024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggcagcaccctggtcggCgggcagcctgggtcagagag	7	4	18	12	3	1	1	1	0	0	1	2	2	1	1	2	5	3	3	2	5	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:129696024C>T	uc003enc.3	+	2	1255	c.694C>T	c.(694-696)Cgg>Tgg	p.R232W		NM_007117	NP_009048	P20396	TRH_HUMAN	Homo sapiens thyrotropin-releasing hormone (TRH), mRNA.	232					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCTGGTCGGCGGGCAGCCTG	0.622													T	129696024	C	T	129696024	3	4	272	1	0	0	0	0	1	0	0	0	16579	759	27	1	700	1	TRH	3	129696024	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	116082979	129696024	68326406	13	19062											
HLTF	6596	broad.mit.edu	37	chr3	148768105	148768105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctaatacgatcaggacCataataaacataaaaattca	19	11	3	8	1	3	0	2	0	1	0	4	2	3	1	1	1	2	0	1	1	8	7			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr3:148768105C>T	uc003ewq.1	-	14	1749	c.1531G>A	c.(1531-1533)Ggt>Agt	p.G511S	HLTF_uc003ewr.1_Missense_Mutation_p.G511S|HLTF_uc003ews.1_Missense_Mutation_p.G510S|HLTF_uc010hve.1_Missense_Mutation_p.G510S	NM_139048	NP_620636	Q14527	HLTF_HUMAN	Homo sapiens helicase-like transcription factor (HLTF), transcript variant 2, mRNA.	511	Helicase ATP-binding.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CGATCAGGACCATAATAAACA	0.299													T	148768105	C	T	148768105	3	4	272	1	0	0	0	0	1	0	0	0	7270	594	21	2	1542	2	HLTF	3	148768105	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	19072081	148768105	49254325	14	19063											
TAS2R1	50834	broad.mit.edu	37	chr5	9629468	9629468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaggatagacagcaacGcgctgatgggtgcacccctg	11	5	14	11	2	0	2	0	1	0	1	0	4	0	4	2	3	3	3	2	3	2	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:9629468G>A	uc003jem.1	-	0	996	c.677C>T	c.(676-678)gCg>gTg	p.A226V		NM_019599	NP_062545	Q9NYW7	TA2R1_HUMAN	Homo sapiens taste receptor, type 2, member 1 (TAS2R1), mRNA.	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGACAGCAACGCGCTGATGGG	0.498													A	9629468	G	A	9629468	3	1	272	1	0	0	0	0	1	0	0	0	15662	1087	38	1	226	1	TAS2R1	5	9629468	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		9629468	171285792	15	19064											
ITGA2	3673	broad.mit.edu	37	chr5	52344242	52344242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaatcagtattacacaaCgggtgtgtgttctgacatca	11	12	11	7	1	3	1	2	1	1	0	3	2	3	2	0	2	2	2	0	2	4	3	rs148042733		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:52344242C>T	uc003joy.3	+	4	580	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ITGA2_uc011cqa.2_Non-coding_Transcript|ITGA2_uc011cqb.2_Non-coding_Transcript|ITGA2_uc011cqc.2_Missense_Mutation_p.T70M|ITGA2_uc011cqd.2_Non-coding_Transcript|ITGA2_uc011cqe.2_Non-coding_Transcript	NM_002203	NP_002194	P17301	ITA2_HUMAN	Homo sapiens integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor) (ITGA2), mRNA.	146					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TATTACACAACGGGTGTGTGT	0.438													T	52344242	C	T	52344242	3	4	272	1	0	0	0	0	1	0	0	0	7933	536	19	1	455	1	ITGA2	5	52344242	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	42714774	52344242	128571018	16	19065											
RGNEF	64283	broad.mit.edu	37	chr5	73148496	73148496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagagcttacagcttatCggagccaccaagagaaaaca	17	5	9	10	1	0	2	0	0	0	2	1	4	0	3	2	1	5	3	2	1	6	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:73148496C>T	uc010izf.3	+	13	1945	c.1769C>T	c.(1768-1770)tCg>tTg	p.S590L	RGNEF_uc011csq.2_Missense_Mutation_p.S590L|RGNEF_uc003kcy.1_3'UTR|RGNEF_uc021yam.1_Missense_Mutation_p.S590L|RGNEF_uc011csr.2_Missense_Mutation_p.S277L	NM_001080479	NP_001073948	Q8N1W1	RGNEF_HUMAN	Homo sapiens 190 kDa guanine nucleotide exchange factor (RGNEF), transcript variant 1, mRNA.	590					cell differentiation|intracellular signal transduction|regulation of Rho protein signal transduction	cytoplasm|plasma membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|RNA binding						Lung NSC(167;0.0378)|all_lung(232;0.04)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.25e-51)		TACAGCTTATCGGAGCCACCA	0.378													T	73148496	C	T	73148496	3	4	272	1	0	0	0	0	1	0	0	0	13371	893	31	1	1819	1	RGNEF	5	73148496	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	20804254	73148496	107766764	17	19066											
SLC27A6	28965	broad.mit.edu	37	chr5	128368954	128368954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactttatgatcaaataatGttaggggaaataaaacttta	18	13	7	3	0	1	1	1	1	0	0	1	3	1	2	0	2	2	1	0	2	9	7			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr5:128368954G>T	uc003kuy.3	+	10	2235	c.1839G>T	c.(1837-1839)atG>atT	p.M613I	SLC27A6_uc003kuz.3_Missense_Mutation_p.M613I	NM_014031	NP_054750	Q9Y2P4	S27A6_HUMAN	Homo sapiens solute carrier family 27 (fatty acid transporter), member 6 (SLC27A6), transcript variant 1, mRNA.	613					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		ATCAAATAATGTTAGGGGAAA	0.318													T	128368954	G	T	128368954	3	4	272	1	0	0	0	0	1	0	0	0	14624	1377	48	4	1877	4	SLC27A6	5	128368954	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	55220458	128368954	52546306	18	19067											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975124	32975124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgcatccaggccccagtGctccacctggcagtcataga	8	7	11	15	1	1	1	1	0	0	1	3	1	3	1	5	3	1	3	5	3	1	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:32975124G>A	uc003ocr.3	-	2	653	c.577C>T	c.(577-579)Cac>Tac	p.H193Y	HLA-DOA_uc010juj.3_Missense_Mutation_p.H163Y|HLA-DOA_uc010jui.3_Missense_Mutation_p.H193Y	NM_002119	NP_002110	P06340	DOA_HUMAN	Homo sapiens major histocompatibility complex, class II, DO alpha (HLA-DOA), mRNA.	193	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity	p.H193Q(1)		NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						AGGCCCCAGTGCTCCACCTGG	0.597													A	32975124	G	A	32975124	3	1	272	1	0	0	0	0	1	0	0	0	7255	1319	46	2	187	2	HLA-DOA	6	32975124	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		32975124	138139943	19	19068											
VPS52	6293	broad.mit.edu	37	chr6	33238055	33238055	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcctggagcccaggaccAcccgcctggaaagggataag	10	5	14	12	1	0	0	0	0	0	0	1	4	1	4	5	5	1	1	5	5	2	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:33238055A>C	uc003odm.1	-	1	306	c.96T>G	c.(94-96)ggT>ggG	p.G32G	VPS52_uc003odn.1_5'UTR|VPS52_uc003odo.1_5'UTR|VPS52_uc011dqy.1_5'UTR|VPS52_uc011dqz.1_5'UTR|RPS18_uc003odp.1_5'Flank|RPS18_uc010jum.1_5'Flank	NM_022553	NP_072047	Q8N1B4	VPS52_HUMAN	Homo sapiens vacuolar protein sorting 52 homolog (S. cerevisiae) (VPS52), mRNA.	32					protein transport	endosome membrane|Golgi apparatus		p.A31A(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						GCCCAGGACCACCCGCCTGGA	0.483													C	33238055	A	C	33238055	2	2	272	1	0	0	0	0	0	0	0	1	17316	146	6	5		5	VPS52	6	33238055	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08	262931	33238055	137877012	20	19069											
TBX18	9096	broad.mit.edu	37	chr6	85446874	85446874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataggagggagtcctgggCggggcaaaggtctcaccagc	10	5	16	10	1	1	0	1	0	1	0	3	2	2	2	2	6	1	1	2	6	2	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:85446874C>T	uc003pkl.1	-	7	1353	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	TBX18_uc010kbq.2_Intron	NM_001080508	NP_001073977	O95935	TBX18_HUMAN	Homo sapiens T-box 18 (TBX18), mRNA.	451					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		GAGTCCTGGGCGGGGCAAAGG	0.612													T	85446874	C	T	85446874	2	4	272	1	0	0	0	0	0	0	0	1	15753	755	27	1		1	TBX18	6	85446874	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	52208819	85446874	85668193	21	19070											
TPD52L1	7164	broad.mit.edu	37	chr6	125541243	125541243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttgttggagactgaaccGttgcaaggaacagacgaaga	13	8	14	6	2	0	4	0	1	0	3	0	7	0	5	1	3	3	4	1	3	4	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:125541243G>A	uc003pzu.1	+	1	258	c.39G>A	c.(37-39)ccG>ccA	p.P13P	TPD52L1_uc003pzv.1_Silent_p.P13P|TPD52L1_uc003pzw.1_Silent_p.P13P|TPD52L1_uc003pzx.1_5'UTR|TPD52L1_uc003pzy.1_5'UTR|TPD52L1_uc003pzz.1_5'UTR	NM_003287	NP_001003395	Q16890	TPD53_HUMAN	Homo sapiens tumor protein D52-like 1 (TPD52L1), transcript variant 1, mRNA.	13					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		AGACTGAACCGTTGCAAGGAA	0.413													A	125541243	G	A	125541243	2	1	272	1	0	0	0	0	0	0	0	1	16499	1132	40	1		1	TPD52L1	6	125541243	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	40094369	125541243	45573824	22	19071											
SYNJ2	8871	broad.mit.edu	37	chr6	158454502	158454502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaccagctgttgcaCgtgcccttgaggcagcacca	9	7	12	13	1	0	1	0	1	0	0	0	2	0	2	3	2	6	6	3	2	1	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158454502C>T	uc003qqx.2	+	3	607	c.501C>T	c.(499-501)caC>caT	p.H167H	SYNJ2_uc011efm.2_Non-coding_Transcript|SYNJ2_uc003qqw.2_Silent_p.H167H|SYNJ2_uc003qqy.2_5'UTR|SYNJ2_uc011efn.1_Silent_p.H116H|SYNJ2_uc010kjo.1_Silent_p.H116H	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	167	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGCTGTTGCACGTGCCCTTGA	0.572													T	158454502	C	T	158454502	2	4	272	1	0	0	0	0	0	0	0	1	15550	535	19	1		1	SYNJ2	6	158454502	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	32913259	158454502	12660565	23	19072											
SYNJ2	8871	broad.mit.edu	37	chr6	158483049	158483049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggcttcttgccacgCgggcgacacgcctatgatca	6	9	12	14	4	3	1	1	1	2	0	3	2	3	1	2	2	1	2	2	2	1	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:158483049C>T	uc003qqx.2	+	7	1086	c.980C>T	c.(979-981)gCg>gTg	p.A327V	SYNJ2_uc011efm.2_Intron|SYNJ2_uc003qqw.2_Missense_Mutation_p.A327V|SYNJ2_uc003qqy.2_Missense_Mutation_p.A90V|SYNJ2_uc011efn.1_Intron|SYNJ2_uc010kjo.1_Missense_Mutation_p.A276V|SYNJ2_uc003qqz.2_5'UTR	NM_003898	NP_001171559	O15056	SYNJ2_HUMAN	Homo sapiens synaptojanin 2 (SYNJ2), transcript variant 1, mRNA.	327	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.A327V(2)		biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TCTTGCCACGCGGGCGACACG	0.562													T	158483049	C	T	158483049	3	4	272	1	0	0	0	0	1	0	0	0	15550	768	27	1	1010	1	SYNJ2	6	158483049	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	28547	158483049	12632018	24	19073											
AGPAT4	56895	broad.mit.edu	37	chr6	161587289	161587289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgacttacccctaacagCccaaagcgttcggacaggct	10	9	8	14	2	1	1	0	1	1	0	2	2	1	2	3	2	4	2	3	2	3	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr6:161587289C>T	uc003qtr.1	-	2	566	c.339G>A	c.(337-339)ggG>ggA	p.G113G	AGPAT4_uc003qts.1_Intron|AGPAT4_uc011egb.1_Intron|AGPAT4_uc003qtt.1_Non-coding_Transcript|AGPAT4_uc011egc.1_Silent_p.G113G|AGPAT4_uc011egd.1_Silent_p.G51G|AGPAT4_uc011ege.1_Intron	NM_020133	NP_064518	Q9NRZ5	PLCD_HUMAN	Homo sapiens 1-acylglycerol-3-phosphate O-acyltransferase 4 (lysophosphatidic acid acyltransferase, delta) (AGPAT4), mRNA.	113					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCCCTAACAGCCCAAAGCGTT	0.507													T	161587289	C	T	161587289	2	4	272	1	0	0	0	0	0	0	0	1	389	726	26	2		2	AGPAT4	6	161587289	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	3104240	161587289	9527778	25	19074											
TYW1	55253	broad.mit.edu	37	chr7	66532361	66532361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccaccccgagcttggcGtgtgctaataaatgtgtctt	10	11	10	10	2	1	0	0	0	1	0	1	2	1	0	3	1	3	2	3	1	4	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:66532361G>A	uc003tvn.3	+	9	1394	c.1245G>A	c.(1243-1245)gcG>gcA	p.A415A	TYW1_uc010lai.3_Non-coding_Transcript|TYW1_uc011kef.2_Silent_p.A29A	NM_018264	NP_060734	Q9NV66	TYW1_HUMAN	Homo sapiens tRNA-yW synthesizing protein 1 homolog (S. cerevisiae) (TYW1), mRNA.	415					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CGAGCTTGGCGTGTGCTAATA	0.458													A	66532361	G	A	66532361	2	1	272	1	0	0	0	0	0	0	0	1	16920	1132	40	1		1	TYW1	7	66532361	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08		66532361	92606302	26	19075											
RELN	5649	broad.mit.edu	37	chr7	103341383	103341383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctagctgaatccagtcCgcagagttattcttggcata	9	14	8	10	1	2	2	0	1	2	1	5	2	4	2	2	1	1	4	2	1	4	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:103341383C>T	uc022ajr.1	-	8	1036	c.876G>A	c.(874-876)gcG>gcA	p.A292A	RELN_uc022ajq.1_Silent_p.A292A|RELN_uc010liz.3_Silent_p.A292A	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	292					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GAATCCAGTCCGCAGAGTTAT	0.358													T	103341383	C	T	103341383	2	4	272	1	0	0	0	0	0	0	0	1	13308	639	23	1		1	RELN	7	103341383	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	36809022	103341383	55797280	27	19076											
SPAM1	6677	broad.mit.edu	37	chr7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaccctcagtataatgcGaagtatggtaagttgaattg	13	11	12	5	1	1	1	1	1	0	0	1	3	1	2	1	2	2	4	1	2	7	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:123595133G>A	uc003vle.3	+	3	1476	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_uc011koa.1_Missense_Mutation_p.R2Q|SPAM1_uc003vld.3_Missense_Mutation_p.R346Q|SPAM1_uc022aks.1_Missense_Mutation_p.R346Q|SPAM1_uc003vlf.4_Missense_Mutation_p.R346Q|SPAM1_uc010lku.3_Missense_Mutation_p.R346Q	NM_003117	NP_003108	P38567	HYALP_HUMAN	Homo sapiens sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding) (SPAM1), transcript variant 1, mRNA.	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(3)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338													A	123595133	G	A	123595133	3	1	272	1	0	0	0	0	1	0	0	0	15082	1058	37	1	1043	1	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	20253750	123595133	35543530	28	19077											
CHRM2	1129	broad.mit.edu	37	chr7	136700700	136700700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagaatattgtagcccGcaagattgtgaagatgacta	16	9	10	6	1	0	5	0	2	0	3	0	5	0	5	1	0	2	3	1	0	7	5	rs147228075		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr7:136700700G>A	uc003vtf.1	+	3	1711	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CHRM2_uc003vtg.1_Missense_Mutation_p.R363H|CHRM2_uc003vti.1_Missense_Mutation_p.R363H|CHRM2_uc003vtm.1_Missense_Mutation_p.R363H|CHRM2_uc003vtj.1_Missense_Mutation_p.R363H|CHRM2_uc003vtk.1_Missense_Mutation_p.R363H|CHRM2_uc003vtl.1_Missense_Mutation_p.R363H|CHRM2_uc003vtn.1_Missense_Mutation_p.R363H|CHRM2_uc003vto.1_Missense_Mutation_p.R363H|AK097470_uc003vtp.1_Intron|CHRM2_uc022ame.1_Missense_Mutation_p.R363H	NM_001006630	NP_001006633	P08172	ACM2_HUMAN	Homo sapiens cholinergic receptor, muscarinic 2 (CHRM2), transcript variant 1, mRNA.	363					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|nervous system development|regulation of heart contraction|response to virus	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|protein binding	p.A362A(1)|p.A362T(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Carbachol(DB00411)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Desipramine(DB01151)|Diphenidol(DB01231)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pilocarpine(DB01085)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Rocuronium(DB00728)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)	ATTGTAGCCCGCAAGATTGTG	0.468													A	136700700	G	A	136700700	3	1	272	1	0	0	0	0	1	0	0	0	3407	1087	38	1	1090	1	CHRM2	7	136700700	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	13105567	136700700	22437963	29	19078											
EIF3E	3646	broad.mit.edu	37	chr8	109240547	109240547	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcgcgacctttggggtgaTtgaagaaaacaaacagagac	15	8	11	7	2	0	4	0	2	0	2	1	6	0	4	1	2	2	0	1	2	5	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:109240547T>C	uc003ymu.3	-	6	699	c.671A>G	c.(670-672)aAt>aGt	p.N224S	EIF3E_uc003ymt.3_Missense_Mutation_p.N175S	NM_001568	NP_001559	P60228	EIF3E_HUMAN	Homo sapiens eukaryotic translation initiation factor 3, subunit E (EIF3E), mRNA.	224					negative regulation of translational initiation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|eukaryotic translation initiation factor 3 complex|PML body	protein N-terminus binding		EIF3E/RSPO2(6)	NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(57;6.84e-10)			TTTGGGGTGATTGAAGAAAAC	0.348													C	109240547	T	C	109240547	3	2	272	1	0	0	0	0	1	0	0	0	5056	1493	52	3	694	3	EIF3E	8	109240547	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		109240547	37123475	30	19079											
BAI1	575	broad.mit.edu	37	chr8	143558906	143558906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgcaacattgccctgtgCcctggtaggtgagagggagg	7	10	15	9	0	1	1	0	1	1	1	1	3	1	2	2	4	4	2	2	4	2	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr8:143558906C>T	uc003ywm.3	+	4	1566	c.1383C>T	c.(1381-1383)tgC>tgT	p.C461C		NM_001702	NP_001693	O14514	BAI1_HUMAN	Homo sapiens brain-specific angiogenesis inhibitor 1 (BAI1), mRNA.	461	TSP type-1 3.				axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TTGCCCTGTGCCCTGGTAGGT	0.657													T	143558906	C	T	143558906	2	4	272	1	0	0	0	0	0	0	0	1	1303	747	26	2		2	BAI1	8	143558906	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	34318359	143558906	2805116	31	19080											
METTL11A	28989	broad.mit.edu	37	chr9	132394975	132394975	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgagtagagccgtggttgGtgacagcatgacgagcgagg	9	8	17	7	3	0	4	0	3	0	1	0	6	0	4	1	3	3	3	1	3	1	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr9:132394975G>A	uc004byd.1	+	1					METTL11A_uc011mbs.1_5'UTR|METTL11A_uc010myw.1_Non-coding_Transcript	NM_014064	NP_054783	Q9BV86	NTM1A_HUMAN	Homo sapiens methyltransferase like 11A (METTL11A), mRNA.						chromosome segregation|N-terminal peptidyl-proline dimethylation|N-terminal peptidyl-serine dimethylation|N-terminal peptidyl-serine trimethylation|spindle organization	nucleus	protein binding|protein methyltransferase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	7						GCCGTGGTTGGTGACAGCATG	0.577													A	132394975	G	A	132394975	1	1	272	1	0	0	0	0	0	0	0	0	9570	1276	44	2		2	METTL11A	9	132394975	Translation_Start_Site	SNP	G	TCGA-76-6285-01A-11D-1696-08		132394975	8818456	32	19081											
HPSE2	60495	broad.mit.edu	37	chr10	100249842	100249842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtgagcataaatccttaGtttgtcccggatcactcggc	9	11	10	11	2	1	1	1	1	0	0	4	2	3	2	2	2	1	3	2	2	3	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr10:100249842G>A	uc001kpn.2	-	9	1505	c.1432C>T	c.(1432-1434)Cta>Tta	p.L478L	HPSE2_uc009xwc.2_Silent_p.L478L|HPSE2_uc001kpo.2_Silent_p.L420L|HPSE2_uc009xwd.2_Silent_p.L366L	NM_021828	NP_068600	Q8WWQ2	HPSE2_HUMAN	Homo sapiens heparanase 2 (HPSE2), transcript variant 1, mRNA.	478					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TAAATCCTTAGTTTGTCCCGG	0.577													A	100249842	G	A	100249842	2	1	272	1	0	0	0	0	0	0	0	1	7400	1020	36	2		2	HPSE2	10	100249842	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08		100249842	35284905	33	19082											
AP2A2	161	broad.mit.edu	37	chr11	926039	926039	+	Frame_Shift_Del	DEL	G	G	-																															aagatgccggccgtgtccaaGggggacgggatgcggggcct																										TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:926039delG	uc001lst.2	+	0	231	c.18delG	c.(16-18)aagfs	p.K6fs	AP2A2_uc009yco.2_Non-coding_Transcript|AP2A2_uc001lss.3_Frame_Shift_Del_p.K6fs	NM_001242837	NP_001229766	O94973	AP2A2_HUMAN	Homo sapiens adaptor-related protein complex 2, alpha 2 subunit (AP2A2), transcript variant 1, mRNA.	6	Lipid-binding.				axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCGTGTCCAAGGGGGACGGGA	0.771													-	926039	G	-	926039	7	5	272	1	0	1	0	1	0	0	0	0	742	991	35	0	20	0	AP2A2	11	926039	Frame_Shift_Del	DEL	G	TCGA-76-6285-01A-11D-1696-08		926039	134080477	34	19083											
MUC6	4588	broad.mit.edu	37	chr11	1025025	1025025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccacgtacctgctgcgcGtctcgaagtcgtccttcatg	6	11	10	14	5	2	0	1	0	1	0	5	1	3	0	3	0	4	2	3	0	2	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:1025025G>A	uc001lsw.2	-	23	3095	c.3044C>T	c.(3043-3045)aCg>aTg	p.T1015M		NM_005961	NP_005952	Q6W4X9	MUC6_HUMAN	Homo sapiens mucin 6, oligomeric mucus/gel-forming (MUC6), mRNA.	1015	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTGCTGCGCGTCTCGAAGTC	0.637													A	1025025	G	A	1025025	3	1	272	1	0	0	0	0	1	0	0	0	10056	1145	40	1	4315	1	MUC6	11	1025025	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	98986	1025025	133981491	35	19084											
NAV2	89797	broad.mit.edu	37	chr11	19955730	19955730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctgtcgggaccacccagaCcacaggaagcaataccgtca	12	5	10	14	2	2	1	1	0	1	1	3	3	2	3	4	2	2	1	4	2	3	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:19955730C>T	uc010rdm.2	+	7	2370	c.2009C>T	c.(2008-2010)aCc>aTc	p.T670I	NAV2_uc001mpp.3_Missense_Mutation_p.T583I|NAV2_uc001mpr.4_Missense_Mutation_p.T647I|NAV2_uc021qew.1_Missense_Mutation_p.T647I	NM_001244963	NP_001231892	Q8IVL1	NAV2_HUMAN	Homo sapiens neuron navigator 2 (NAV2), transcript variant 5, mRNA.	670						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCACCCAGACCACAGGAAGC	0.582													T	19955730	C	T	19955730	3	4	272	1	0	0	0	0	1	0	0	0	10260	507	18	2	2045	2	NAV2	11	19955730	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	18930705	19955730	115050786	36	19085											
CHRDL2	25884	broad.mit.edu	37	chr11	74429781	74429781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacctctgagcaggtacagCgcaggcagtacatcaggcct	10	7	11	13	1	2	1	1	1	1	0	2	1	2	1	2	3	5	5	2	3	3	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr11:74429781C>T	uc001ovh.3	-	1	432	c.179G>A	c.(178-180)cGc>cAc	p.R60H	CHRDL2_uc001ovg.3_5'UTR|CHRDL2_uc001ovi.3_Missense_Mutation_p.R60H|CHRDL2_uc001ovk.1_Missense_Mutation_p.R60H	NM_015424	NP_056239	Q6WN34	CRDL2_HUMAN	Homo sapiens chordin-like 2 (CHRDL2), mRNA.	60	VWFC 1.				cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					GCAGGTACAGCGCAGGCAGTA	0.597													T	74429781	C	T	74429781	3	4	272	1	0	0	0	0	1	0	0	0	3404	768	27	1	1220	1	CHRDL2	11	74429781	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	54474051	74429781	60576735	37	19086											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658397	18658397	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttggagggataaaaaggTcagtgcacaaatgtttatta	15	12	10	4	0	1	0	1	0	0	0	1	2	1	2	0	3	1	2	0	3	6	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:18658397T>C	uc001rdt.3	+	23	3316	c.3200_splice	c.e23+2	p.R1067_splice	PIK3C2G_uc010sia.2_Splice_Site|PIK3C2G_uc010sib.2_Splice_Site_p.R1108_splice|PIK3C2G_uc010sic.2_Splice_Site_p.R886_splice	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1067	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GATAAAAAGGTCAGTGCACAA	0.368													C	18658397	T	C	18658397	5	2	272	1	0	0	0	0	0	0	1	0	11988	1681	58	3	3288	3	PIK3C2G	12	18658397	Splice_Site	SNP	T	TCGA-76-6285-01A-11D-1696-08		18658397	115193498	38	19087											
KRT6B	3854	broad.mit.edu	37	chr12	52841112	52841112	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctccaacgccaagaccActgccataggagtagctgct	10	6	9	16	2	0	1	0	0	0	1	1	2	1	2	6	1	4	3	6	1	4	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:52841112A>G	uc001sak.3	-	8	1605	c.1557T>C	c.(1555-1557)agT>agC	p.S519S		NM_005555	NP_005546	P04259	K2C6B_HUMAN	Homo sapiens keratin 6B (KRT6B), mRNA.	519	Tail.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CGCCAAGACCACTGCCATAGG	0.622													G	52841112	A	G	52841112	2	3	272	1	0	0	0	0	0	0	0	1	8539	156	6	3		3	KRT6B	12	52841112	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08	34182715	52841112	81010783	39	19088											
GPR182	11318	broad.mit.edu	37	chr12	57389618	57389618	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttcatggcaccttttGaaacgtacagcacctgggcc	8	10	9	14	1	2	1	1	1	1	0	2	1	2	1	4	2	3	3	4	2	2	4			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:57389618G>T	uc021qzf.1	+	0	625	c.625G>T	c.(625-627)Gaa>Taa	p.E209*	GPR182_uc001smk.3_Nonsense_Mutation_p.E209*	NM_007264	NP_009195	O15218	GP182_HUMAN	Homo sapiens G protein-coupled receptor 182 (GPR182), mRNA.	209						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	15						GGCACCTTTTGAAACGTACAG	0.617													T	57389618	G	T	57389618	4	4	272	1	0	0	0	0	0	1	0	0	6731	1291	45	4	627	4	GPR182	12	57389618	Nonsense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	4548506	57389618	76462277	40	19089											
RASSF9	9182	broad.mit.edu	37	chr12	86199112	86199112	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgaacatagttttctccatCattttctactcgatcaagat	11	16	4	10	1	4	2	2	1	2	1	6	3	4	2	1	0	2	1	1	0	4	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:86199112C>G	uc001taf.1	-	1	1015	c.676G>C	c.(676-678)Gat>Cat	p.D226H		NM_005447	NP_005438	O75901	RASF9_HUMAN	Homo sapiens Ras association (RalGDS/AF-6) domain family (N-terminal) member 9 (RASSF9), mRNA.	226					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTTCTCCATCATTTTCTACT	0.398													G	86199112	C	G	86199112	3	3	272	1	0	0	0	0	1	0	0	0	13181	826	29	4	635	4	RASSF9	12	86199112	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	28809494	86199112	47652783	41	19090											
NR2C1	7181	broad.mit.edu	37	chr12	95445680	95445680	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgctaatgatgtaaccaCattggccaatgtacttaaat	14	13	6	8	1	0	1	0	1	0	0	1	1	0	1	2	1	2	3	2	1	6	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:95445680C>A	uc001tdm.4	-	7	1079	c.823G>T	c.(823-825)Gtg>Ttg	p.V275L	NR2C1_uc010suu.1_Missense_Mutation_p.V275L|NR2C1_uc001tdn.4_Missense_Mutation_p.V275L|NR2C1_uc001tdo.4_Missense_Mutation_p.V275L	NM_003297	NP_003288	P13056	NR2C1_HUMAN	Homo sapiens nuclear receptor subfamily 2, group C, member 1 (NR2C1), transcript variant 1, mRNA.	275					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						GATGTAACCACATTGGCCAAT	0.303													A	95445680	C	A	95445680	3	1	272	1	0	0	0	0	1	0	0	0	10698	478	17	4	1094	4	NR2C1	12	95445680	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	9246568	95445680	38406215	42	19091											
NOS1	4842	broad.mit.edu	37	chr12	117710328	117710328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggacacggcggggaggccGtaccacttcagccccaggtc	7	6	14	14	3	1	0	1	0	0	0	2	2	1	2	4	6	2	1	4	6	1	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr12:117710328G>A	uc001twn.2	-	9	2412	c.1701C>T	c.(1699-1701)taC>taT	p.Y567Y	NOS1_uc021ren.1_Silent_p.Y231Y|NOS1_uc021reo.1_Silent_p.Y231Y|NOS1_uc001twm.2_Silent_p.Y567Y	NM_001204218	NP_001191147	P29475	NOS1_HUMAN	Homo sapiens nitric oxide synthase 1 (neuronal) (NOS1), transcript variant 2, mRNA.	567					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CGGGGAGGCCGTACCACTTCA	0.612													A	117710328	G	A	117710328	2	1	272	1	0	0	0	0	0	0	0	1	10617	1140	40	1		1	NOS1	12	117710328	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	22264648	117710328	16141567	43	19092											
EML5	161436	broad.mit.edu	37	chr14	89130847	89130847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagtcttacctctaatatcCcaatcaatatgggttatgta	14	14	5	8	0	3	0	1	0	2	0	4	0	4	0	2	1	1	2	2	1	9	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr14:89130847C>T	uc021ryf.1	-	22	3648	c.3399G>A	c.(3397-3399)tgG>tgA	p.W1133*	EML5_uc001xxf.3_5'UTR|EML5_uc021ryg.1_Nonsense_Mutation_p.W1133*|EML5_uc001xxh.1_Nonsense_Mutation_p.W272*	NM_183387	NP_899243	Q05BV3	EMAL5_HUMAN	Homo sapiens echinoderm microtubule associated protein like 5 (EML5), mRNA.	1133						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CTCTAATATCCCAATCAATAT	0.308													T	89130847	C	T	89130847	4	4	272	1	0	0	0	0	0	1	0	0	5141	624	22	2	2618	2	EML5	14	89130847	Nonsense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		89130847	18218693	44	19093											
HS3ST4	9951	broad.mit.edu	37	chr16	26147153	26147153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctggccttcaaaaacCggaccctcgggctgatcgat	9	8	12	12	3	1	1	1	1	0	0	3	3	1	2	3	4	2	2	3	4	2	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:26147153C>T	uc002dof.3	+	1	1347	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W		NM_006040	NP_006031	Q9Y661	HS3S4_HUMAN	Homo sapiens heparan sulfate (glucosamine) 3-O-sulfotransferase 4 (HS3ST4), mRNA.	319					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		CTTCAAAAACCGGACCCTCGG	0.552													T	26147153	C	T	26147153	3	4	272	1	0	0	0	0	1	0	0	0	7422	643	23	1	961	1	HS3ST4	16	26147153	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08		26147153	64207600	45	19094											
ZNF48	197407	broad.mit.edu	37	chr16	30409831	30409831	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcgaagtccctcacactcGggtgagccttttggcctgcc	5	10	10	16	2	1	1	1	1	0	0	4	2	2	1	5	2	2	0	5	2	1	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr16:30409831G>C	uc002dya.2	+	1	1636	c.1260G>C	c.(1258-1260)tcG>tcC	p.S420S	ZNF48_uc021tgi.1_Silent_p.S420S|ZNF48_uc021tgj.1_Silent_p.S297S|ZNF48_uc021tgk.1_Silent_p.S420S	NM_152652	NP_001201836	Q96MX3	ZNF48_HUMAN	Homo sapiens zinc finger protein 48 (ZNF48), transcript variant 1, mRNA.	420	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S420S(2)|p.S420L(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						CCTCACACTCGGGTGAGCCTT	0.692													C	30409831	G	C	30409831	2	2	272	1	0	0	0	0	0	0	0	1	18035	1103	39	4		4	ZNF48	16	30409831	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	4262678	30409831	59944922	46	19095											
SHPK	23729	broad.mit.edu	37	chr17	3524530	3524530	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaacaaaagaaaaacttaCctgcatctgtcctctgggcc	14	8	7	12	0	2	2	0	0	2	2	3	2	3	2	3	1	4	1	3	1	6	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:3524530C>T	uc002fvz.1	-	5	926	c.823_splice	c.e5+1	p.V275_splice		NM_013276	NP_037408	Q9UHJ6	SHPK_HUMAN	Homo sapiens sedoheptulokinase (SHPK), mRNA.	275					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		GAAAAACTTACCTGCATCTGT	0.522													T	3524530	C	T	3524530	5	4	272	1	0	0	0	0	0	0	1	0	14384	521	18	2	624	2	SHPK	17	3524530	Splice_Site	SNP	C	TCGA-76-6285-01A-11D-1696-08		3524530	77670680	47	19096											
ACACA	31	broad.mit.edu	37	chr17	35631152	35631152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggaacatttaagatacGttttgaaaaatcattttcct	13	15	7	6	1	1	2	1	1	0	1	2	3	2	3	1	2	2	1	1	2	5	7			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:35631152G>A	uc002hnm.3	-	8	1020	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C	ACACA_uc002hnk.3_Missense_Mutation_p.R199C|ACACA_uc002hnl.3_Missense_Mutation_p.R219C|ACACA_uc002hnn.3_Missense_Mutation_p.R277C|ACACA_uc002hno.3_Missense_Mutation_p.R314C|ACACA_uc010cuz.3_Missense_Mutation_p.R277C|ACACA_uc002hnq.2_Missense_Mutation_p.R199C	NM_198836	NP_942135	Q13085	ACACA_HUMAN	Homo sapiens acetyl-CoA carboxylase alpha (ACACA), transcript variant 3, mRNA.	277	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTAAGATACGTTTTGAAAAA	0.408													A	35631152	G	A	35631152	3	1	272	1	0	0	0	0	1	0	0	0	106	1145	40	1	6403	1	ACACA	17	35631152	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	32106622	35631152	45564058	48	19097											
AOC2	314	broad.mit.edu	37	chr17	40997352	40997352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttttccttcaccccGtggggctggagctactactg	4	14	11	12	1	2	0	1	0	1	0	3	1	3	1	3	4	3	2	3	4	2	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr17:40997352G>A	uc002ibu.3	+	0	744	c.709G>A	c.(709-711)Gtg>Atg	p.V237M	AOC2_uc002ibt.3_Missense_Mutation_p.V237M	NM_009590	NP_033720	O75106	AOC2_HUMAN	Homo sapiens amine oxidase, copper containing 2 (retina-specific) (AOC2), transcript variant 2, mRNA.	237					catecholamine metabolic process|visual perception	cytoplasm|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|electron carrier activity|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(14)|ovary(4)|skin(2)	30		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CCTTCACCCCGTGGGGCTGGA	0.612													A	40997352	G	A	40997352	3	1	272	1	0	0	0	0	1	0	0	0	729	1145	40	1	711	1	AOC2	17	40997352	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	5366200	40997352	40197858	49	19098											
MYO5B	4645	broad.mit.edu	37	chr18	47463738	47463738	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaacagggtccttgtcAtcatgaaacaagtcagccac	13	7	10	11	0	3	1	3	1	0	0	4	2	4	2	2	2	3	1	2	2	3	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr18:47463738A>G	uc002leb.2	-	14	2070	c.1782T>C	c.(1780-1782)gaT>gaC	p.D594D	MYO5B_uc021ukb.1_Silent_p.D593D	NM_001080467	NP_001073936	Q9ULV0	MYO5B_HUMAN	Homo sapiens myosin VB (MYO5B), mRNA.	594	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		GGTCCTTGTCATCATGAAACA	0.507													G	47463738	A	G	47463738	2	3	272	1	0	0	0	0	0	0	0	1	10155	214	8	3		3	MYO5B	18	47463738	Silent	SNP	A	TCGA-76-6285-01A-11D-1696-08		47463738	30613510	50	19099											
MIDN	90007	broad.mit.edu	37	chr19	1257154	1257154	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccggccgcagcgacagcagTagcagcgggggcggcggcag	7	1	20	13	6	0	0	0	0	0	0	0	1	0	0	2	5	4	5	2	5	1	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:1257154T>G	uc002lrp.3	+	7	1805	c.1290T>G	c.(1288-1290)agT>agG	p.S430R		NM_177401	NP_796375	Q504T8	MIDN_HUMAN	Homo sapiens midnolin (MIDN), mRNA.	430						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		GCGACAGCAGTAGCAGCGGGG	0.682													G	1257154	T	G	1257154	3	3	272	1	0	0	0	0	1	0	0	0	9654	1635	57	5	1316	5	MIDN	19	1257154	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		1257154	57871829	51	19100											
ZNF492	57615	broad.mit.edu	37	chr19	22846866	22846866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaattcaaacagacataCgataagacatactggaaaga	20	8	6	7	1	2	3	2	0	0	3	2	5	2	4	0	1	3	0	0	1	6	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:22846866C>T	uc002nqw.3	+	3	639	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_020855	NP_065906	Q9P255	ZN492_HUMAN	Homo sapiens zinc finger protein 492 (ZNF492), mRNA.	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				AACAGACATACGATAAGACAT	0.308													T	22846866	C	T	22846866	3	4	272	1	0	0	0	0	1	0	0	0	18044	536	19	1	405	1	ZNF492	19	22846866	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	21589712	22846866	36282117	52	19101											
LTBP4	8425	broad.mit.edu	37	chr19	41129963	41129963	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctcgcagcgccgctgcGtctccaacgagagccagagc	8	5	13	15	5	1	2	0	0	1	2	3	3	1	2	3	1	5	3	3	1	1	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr19:41129963G>C	uc002ooh.1	+	29	4006	c.4006G>C	c.(4006-4008)Gtc>Ctc	p.V1336L	LTBP4_uc002oog.1_Missense_Mutation_p.V1299L|LTBP4_uc002ooi.1_Missense_Mutation_p.V1269L|LTBP4_uc002ooj.1_Missense_Mutation_p.V210L|LTBP4_uc002ook.1_Missense_Mutation_p.V471L|LTBP4_uc002ool.1_Missense_Mutation_p.V349L|LTBP4_uc010xvp.1_Missense_Mutation_p.V97L	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1337	EGF-like 14; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCGCCGCTGCGTCTCCAACGA	0.682													C	41129963	G	C	41129963	3	2	272	1	0	0	0	0	1	0	0	0	9146	1145	40	4	4415	4	LTBP4	19	41129963	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	18283097	41129963	17999020	53	19102											
TGM3	7053	broad.mit.edu	37	chr20	2298127	2298127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacaagggtagtgatagcGtatggtaagtatctcacctt	11	12	12	6	1	1	1	1	1	1	0	2	2	1	2	1	3	1	4	1	3	6	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:2298127G>A	uc002wfx.4	+	6	1076	c.979G>A	c.(979-981)Gta>Ata	p.V327I		NM_003245	NP_003236	Q08188	TGM3_HUMAN	Homo sapiens transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase) (TGM3), mRNA.	327					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TAGTGATAGCGTATGGTAAGT	0.507													A	2298127	G	A	2298127	3	1	272	1	0	0	0	0	1	0	0	0	15931	1145	40	1	1005	1	TGM3	20	2298127	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		2298127	60727393	54	19103											
CRNKL1	51340	broad.mit.edu	37	chr20	20033098	20033098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaacaggatctcggaacCggaagcggaacttgcaggac	15	4	12	10	3	1	0	0	0	1	0	2	5	1	5	1	5	6	1	1	5	5	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:20033098C>T	uc002wrs.3	-	1	404	c.372G>A	c.(370-372)ccG>ccA	p.P124P	C20orf26_uc010gcw.2_5'Flank|C20orf26_uc010zse.2_5'Flank|C20orf26_uc002wru.3_5'Flank|CRNKL1_uc002wrt.1_Silent_p.P112P	NM_016652	NP_057736	Q9BZJ0	CRNL1_HUMAN	Homo sapiens crooked neck pre-mRNA splicing factor-like 1 (Drosophila) (CRNKL1), mRNA.	124					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						ATCTCGGAACCGGAAGCGGAA	0.592													T	20033098	C	T	20033098	2	4	272	1	0	0	0	0	0	0	0	1	3922	639	23	1		1	CRNKL1	20	20033098	Silent	SNP	C	TCGA-76-6285-01A-11D-1696-08	17734971	20033098	42992422	55	19104											
CD93	22918	broad.mit.edu	37	chr20	23065129	23065129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgttgttttgtgtggccacGgaggagtccccacctgcagg	5	11	14	11	2	0	0	0	0	0	0	2	2	1	2	4	4	1	3	4	4	0	3			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:23065129G>A	uc002wsv.3	-	0	1849	c.1701C>T	c.(1699-1701)tcC>tcT	p.S567S		NM_012072	NP_036204	Q9NPY3	C1QR1_HUMAN	Homo sapiens CD93 molecule (CD93), mRNA.	567					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTGTGGCCACGGAGGAGTCCC	0.637													A	23065129	G	A	23065129	2	1	272	1	0	0	0	0	0	0	0	1	3077	1103	39	1		1	CD93	20	23065129	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	3032031	23065129	39960391	56	19105											
PREX1	57580	broad.mit.edu	37	chr20	47262489	47262489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccccatggtcactccTgtccatctcgctctcttcac	5	12	6	18	1	4	0	2	0	2	0	8	1	6	0	4	1	1	1	4	1	0	1			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:47262489T>C	uc002xtw.1	-	25	3435	c.3412A>G	c.(3412-3414)Agg>Ggg	p.R1138G	PREX1_uc002xtv.1_Missense_Mutation_p.R435G	NM_020820	NP_065871	Q8TCU6	PREX1_HUMAN	Homo sapiens phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1 (PREX1), mRNA.	1138					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGTCACTCCTGTCCATCTCG	0.617													C	47262489	T	C	47262489	3	2	272	1	0	0	0	0	1	0	0	0	12562	1579	55	3	1627	3	PREX1	20	47262489	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08	24197360	47262489	15763031	57	19106											
PRIC285	85441	broad.mit.edu	37	chr20	62197056	62197056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagccgctcctgccGcacaggccccgggcaccacg	6	3	12	20	4	0	0	0	0	0	0	1	0	1	0	6	2	4	5	6	2	0	0			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr20:62197056G>A	uc002yfm.2	-	8	4011	c.3119C>T	c.(3118-3120)gCg>gTg	p.A1040V	PRIC285_uc002yfl.1_Missense_Mutation_p.A471V	NM_001037335	NP_001032412	Q9BYK8	PR285_HUMAN	Homo sapiens peroxisomal proliferator-activated receptor A interacting complex 285 (PRIC285), transcript variant 1, mRNA.	1040	Ala-rich.				cellular lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|helicase activity|ribonuclease activity|RNA binding|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(4)|cervix(3)|endometrium(6)|kidney(3)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(4)|urinary_tract(2)	47	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;1.27e-08)|all cancers(9;7.32e-08)|BRCA - Breast invasive adenocarcinoma(10;5.15e-06)			CGCTCCTGCCGCACAGGCCCC	0.687													A	62197056	G	A	62197056	3	1	272	1	0	0	0	0	1	0	0	0	12571	1087	38	1	4878	1	PRIC285	20	62197056	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08	14934567	62197056	828464	58	19107											
IL17RA	23765	broad.mit.edu	37	chr22	17586805	17586805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgctggtgggctccGtcatcctgctcatcgtctgc	3	12	10	16	2	3	0	2	0	1	0	7	0	6	0	4	2	3	3	4	2	0	0	rs138404135		TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:17586805G>A	uc002zly.3	+	10	1137	c.1006G>A	c.(1006-1008)Gtc>Atc	p.V336I		NM_014339	NP_055154	Q96F46	I17RA_HUMAN	Homo sapiens interleukin 17 receptor A (IL17RA), mRNA.	336					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GGTGGGCTCCGTCATCCTGCT	0.607													A	17586805	G	A	17586805	3	1	272	1	0	0	0	0	1	0	0	0	7697	1145	40	1	1048	1	IL17RA	22	17586805	Missense_Mutation	SNP	G	TCGA-76-6285-01A-11D-1696-08		17586805	33717761	59	19108											
MYO18B	84700	broad.mit.edu	37	chr22	26159232	26159232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagagccctccaccatcctCgccccctcctcttttctctg	5	11	4	21	1	2	1	0	0	2	1	7	1	5	1	7	0	1	0	7	0	1	2	rs79294358	by1000genomes	TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:26159232C>T	uc003abz.1	+	2	324	c.74C>T	c.(73-75)tCg>tTg	p.S25L	MYO18B_uc003aca.1_5'UTR|MYO18B_uc010guy.1_5'UTR|MYO18B_uc010guz.1_5'UTR|MYO18B_uc011aka.1_5'UTR	NM_032608	NP_115997	Q8IUG5	MY18B_HUMAN	Homo sapiens myosin XVIIIB (MYO18B), mRNA.	25						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						CCACCATCCTCGCCCCCTCCT	0.542													T	26159232	C	T	26159232	3	4	272	1	0	0	0	0	1	0	0	0	10142	893	31	1	80	1	MYO18B	22	26159232	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	8572427	26159232	25145334	60	19109											
FAM109B	150368	broad.mit.edu	37	chr22	42473575	42473575	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttgccatctgctttgatgCccctggagtgcgcccacacc	5	11	9	16	1	1	1	0	1	1	0	1	2	1	2	5	1	4	1	5	1	0	2			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chr22:42473575C>G	uc003bbz.3	+	2	465	c.278C>G	c.(277-279)gCc>gGc	p.A93G	FAM109B_uc021wqi.1_Missense_Mutation_p.A93G|C22orf32_uc003bca.3_5'Flank	NM_001002034	NP_001002034	Q6ICB4	SESQ2_HUMAN	Homo sapiens family with sequence similarity 109, member B (FAM109B), mRNA.	93	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						TGCTTTGATGCCCCTGGAGTG	0.682													G	42473575	C	G	42473575	3	3	272	1	0	0	0	0	1	0	0	0	5440	739	26	4	280	4	FAM109B	22	42473575	Missense_Mutation	SNP	C	TCGA-76-6285-01A-11D-1696-08	16314343	42473575	8830991	61	19110											
USP51	158880	broad.mit.edu	37	chrX	55514642	55514642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagacaagagtggagtctgTtcatatgggtactacatacg	13	10	12	6	1	2	2	1	0	1	2	2	4	2	3	0	2	3	2	0	2	5	5			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:55514642T>C	uc022bxu.1	-	0	731	c.731A>G	c.(730-732)aAc>aGc	p.N244S	USP51_uc004dun.2_Missense_Mutation_p.N244S	NM_201286	NP_958443	Q70EK9	UBP51_HUMAN	Homo sapiens ubiquitin specific peptidase 51 (USP51), mRNA.	244					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						GTGGAGTCTGTTCATATGGGT	0.448													C	55514642	T	C	55514642	3	2	272	1	0	0	0	0	1	0	0	0	17185	1725	60	3	1408	3	USP51	23	55514642	Missense_Mutation	SNP	T	TCGA-76-6285-01A-11D-1696-08		55514642	99755918	62	19111											
POF1B	79983	broad.mit.edu	37	chrX	84562214	84562214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgatgccaagagttcttcGtactcttttaattgagtgtc	9	16	8	8	1	2	3	0	2	2	1	4	3	2	3	1	0	2	2	1	0	3	6			TCGA-76-6285-01A-11D-1696-08	TCGA-76-6285-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28380a2f-d302-45fb-a4c5-31b2fd150bc3	6a1d3a89-3c8f-4a02-ae9a-870918116abf	g.chrX:84562214G>A	uc004eer.2	-	10	1265	c.1119C>T	c.(1117-1119)taC>taT	p.Y373Y	POF1B_uc004ees.3_Silent_p.Y373Y	NM_024921	NP_079197	Q8WVV4	POF1B_HUMAN	Homo sapiens premature ovarian failure, 1B (POF1B), mRNA.	373							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGAGTTCTTCGTACTCTTTTA	0.333													A	84562214	G	A	84562214	2	1	272	1	0	0	0	0	0	0	0	1	12259	1140	40	1		1	POF1B	23	84562214	Silent	SNP	G	TCGA-76-6285-01A-11D-1696-08	29047572	84562214	70708346	63	19112											
TTC4	7268	broad.mit.edu	37	chr1	55207175	55207175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggggagaaaggtgtacCagatacgatgactaagccag	13	6	14	8	2	0	3	0	1	0	2	1	5	1	3	3	3	3	1	3	3	4	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:55207175C>G	uc001cxv.3	+	9	1318	c.1186C>G	c.(1186-1188)Cag>Gag	p.Q396E	HEATR8_uc001cxq.3_Non-coding_Transcript|TTC4_uc001cxx.4_Missense_Mutation_p.Q385E			O95801	TTC4_HUMAN	Homo sapiens tetratricopeptide repeat domain 4 (TTC4), mRNA.	385							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						AAAGGTGTACCAGATACGATG	0.517													G	55207175	C	G	55207175	3	3	273	1	0	0	0	0	1	0	0	0	16812	595	21	4	1191	4	TTC4	1	55207175	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08		55207175	194043446	1	19113											
RPE65	6121	broad.mit.edu	37	chr1	68905261	68905261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctatgaacgtaagatggCttgaatcggtcactgcaggg	11	10	12	8	2	1	3	1	2	0	1	2	3	1	3	1	3	3	3	1	3	5	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:68905261C>A	uc001dei.1	-	6	762	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_000329	NP_000320	Q16518	RPE65_HUMAN	Homo sapiens retinal pigment epithelium-specific protein 65kDa (RPE65), mRNA.	236					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CGTAAGATGGCTTGAATCGGT	0.403													A	68905261	C	A	68905261	3	1	273	1	0	0	0	0	1	0	0	0	13636	796	28	4	925	4	RPE65	1	68905261	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	13698086	68905261	180345360	2	19114											
RPRD2	23248	broad.mit.edu	37	chr1	150437160	150437160	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagagagcattctgtcTgcactttccaaaacccagac	12	8	6	15	0	2	2	0	0	2	2	3	3	3	2	4	0	3	2	4	0	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:150437160T>A	uc009wlr.3	+	9	1770	c.1569T>A	c.(1567-1569)tcT>tcA	p.S523S	RPRD2_uc010pcc.1_Silent_p.S497S|RPRD2_uc001eup.4_Silent_p.S497S	NM_015203	NP_056018	Q5VT52	RPRD2_HUMAN	Homo sapiens regulation of nuclear pre-mRNA domain containing 2 (RPRD2), mRNA.	523	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GCATTCTGTCTGCACTTTCCA	0.502											OREG0013786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	150437160	T	A	150437160	2	1	273	1	0	0	0	0	0	0	0	1	13708	1567	55	5		5	RPRD2	1	150437160	Silent	SNP	T	TCGA-76-6286-01A-11D-1845-08	81531899	150437160	98813461	3	19115											
RYR2	6262	broad.mit.edu	37	chr1	237791219	237791219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccatcggcagtatgaCggcattgggggtcttgttcg	5	13	14	9	3	1	1	0	1	1	0	4	1	2	1	1	4	1	5	1	4	1	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr1:237791219C>T	uc001hyl.1	+	40	6399	c.6279C>T	c.(6277-6279)gaC>gaT	p.D2093D		NM_001035	NP_001026	Q92736	RYR2_HUMAN	Homo sapiens ryanodine receptor 2 (cardiac) (RYR2), mRNA.	2093	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGCAGTATGACGGCATTGGGG	0.552													T	237791219	C	T	237791219	2	4	273	1	0	0	0	0	0	0	0	1	13860	535	19	1		1	RYR2	1	237791219	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	87354059	237791219	11459402	4	19116											
TTC7A	57217	broad.mit.edu	37	chr2	47206005	47206005	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctcacctacttcctggaAgctgccctccagagcgccta	8	8	9	16	1	1	1	1	0	0	1	3	3	3	2	5	1	5	2	5	1	3	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:47206005A>G	uc010fbb.3	+	4	1091	c.723A>G	c.(721-723)gaA>gaG	p.E241E	TTC7A_uc002rvm.3_Silent_p.E207E|TTC7A_uc002rvn.1_Silent_p.E122E|TTC7A_uc002rvo.3_Silent_p.E241E|TTC7A_uc010fbc.3_5'UTR|TTC7A_uc002rvp.3_Silent_p.E122E|TTC7A_uc002rvq.3_5'UTR	NM_020458	NP_065191	Q9ULT0	TTC7A_HUMAN	Homo sapiens tetratricopeptide repeat domain 7A (TTC7A), mRNA.	241							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			ACTTCCTGGAAGCTGCCCTCC	0.537													G	47206005	A	G	47206005	2	3	273	1	0	0	0	0	0	0	0	1	16814	69	3	3		3	TTC7A	2	47206005	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08		47206005	195993368	5	19117											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48809567	48809567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaagctaaaatgaacCgccgagcatgtctggggagt	12	8	12	9	2	2	2	0	2	2	0	2	4	2	3	2	2	3	2	2	2	4	1	rs147440328		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:48809567C>T	uc002rwp.2	+	1	1909	c.1795C>T	c.(1795-1797)Cgc>Tgc	p.R599C	STON1-GTF2A1L_uc021vhf.1_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc002rwo.4_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010fbm.3_Missense_Mutation_p.R599C|STON1-GTF2A1L_uc010yol.2_Missense_Mutation_p.R599C	NM_172311	NP_758515	B7ZL16	B7ZL16_HUMAN	Homo sapiens STON1-GTF2A1L readthrough (STON1-GTF2A1L), transcript variant 1, mRNA.	599					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		p.R599C(3)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAAAATGAACCGCCGAGCATG	0.483													T	48809567	C	T	48809567	3	4	273	1	0	0	0	0	1	0	0	0	15413	652	23	1	1797	1	STON1-GTF2A1L	2	48809567	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	1603562	48809567	194389806	6	19118											
EDAR	10913	broad.mit.edu	37	chr2	109522815	109522815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggatctttttcctccGgctttgaatctgtgaaaaag	10	14	9	8	2	2	2	0	2	2	0	5	4	4	3	2	2	0	1	2	2	3	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:109522815G>A	uc010fjn.3	-	10	1616	c.1069C>T	c.(1069-1071)Cgg>Tgg	p.R357W	EDAR_uc010yws.2_Missense_Mutation_p.R357W|EDAR_uc002teq.4_Missense_Mutation_p.R325W	NM_022336	NP_071731	Q9UNE0	EDAR_HUMAN	Homo sapiens ectodysplasin A receptor (EDAR), mRNA.	325					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						TTTTTCCTCCGGCTTTGAATC	0.512													A	109522815	G	A	109522815	3	1	273	1	0	0	0	0	1	0	0	0	4944	1115	39	1	381	1	EDAR	2	109522815	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	60713248	109522815	133676558	7	19119											
CNTNAP5	129684	broad.mit.edu	37	chr2	125504853	125504853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggtccaatgaaaggcacCcttactggggaggttcccct	8	8	13	12	1	0	1	0	1	0	0	2	2	2	2	4	6	1	2	4	6	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:125504853C>A	uc010flu.3	+	13	2489	c.2125C>A	c.(2125-2127)Cct>Act	p.P709T	CNTNAP5_uc002tno.3_Missense_Mutation_p.P708T	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	708	Fibrinogen C-terminal.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		TGAAAGGCACCCTTACTGGGG	0.537													A	125504853	C	A	125504853	3	1	273	1	0	0	0	0	1	0	0	0	3681	623	22	4	2176	4	CNTNAP5	2	125504853	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	15982038	125504853	117694520	8	19120											
POTEE	445582	broad.mit.edu	37	chr2	131984443	131984443	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacatgagcaaaaacagcaAgtcgtgaaatttttaatcaa	18	10	7	6	1	1	2	1	2	0	0	2	2	1	2	0	0	4	3	0	0	7	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:131984443A>G	uc002tsn.2	+	3	910	c.858A>G	c.(856-858)caA>caG	p.Q286Q	PLEKHB2_uc002tsh.2_Intron|POTEE_uc002tsk.2_5'UTR|POTEE_uc002tsl.2_5'UTR	NM_001083538	NP_001077007	Q6S8J3	POTEE_HUMAN	Homo sapiens POTE ankyrin domain family, member E (POTEE), mRNA.	286							ATP binding										AAAAACAGCAAGTCGTGAAAT	0.333													G	131984443	A	G	131984443	2	3	273	1	0	0	0	0	0	0	0	1	12341	69	3	3		3	POTEE	2	131984443	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	6479590	131984443	111214930	9	19121											
ZNF804A	91752	broad.mit.edu	37	chr2	185731110	185731110	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggactatgctgagaaGgaaaataccatagcaaaagc	17	8	9	7	0	1	1	1	1	0	1	1	4	1	3	1	2	4	2	1	2	8	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:185731110G>C	uc002uph.3	+	1	720	c.126G>C	c.(124-126)aaG>aaC	p.K42N		NM_194250	NP_919226	Q7Z570	Z804A_HUMAN	Homo sapiens zinc finger protein 804A (ZNF804A), mRNA.	42						intracellular	zinc ion binding	p.E41Q(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ATGCTGAGAAGGAAAATACCA	0.363													C	185731110	G	C	185731110	3	2	273	1	0	0	0	0	1	0	0	0	18269	991	35	4	132	4	ZNF804A	2	185731110	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	53746667	185731110	57468263	10	19122											
MPP4	58538	broad.mit.edu	37	chr2	202552079	202552079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggaagtaggggtttcacGtaataactccactacctggt	11	10	12	8	1	1	0	1	0	0	0	2	1	2	1	2	5	2	3	2	5	5	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr2:202552079G>A	uc002uyk.4	-	4	503	c.295C>T	c.(295-297)Cgt>Tgt	p.R99C	MPP4_uc010ftj.3_Missense_Mutation_p.R99C|MPP4_uc010zhq.2_Missense_Mutation_p.R99C|MPP4_uc010zht.2_Intron|MPP4_uc010zhr.2_Missense_Mutation_p.R99C|MPP4_uc010zhs.2_Missense_Mutation_p.R99C|MPP4_uc002uyj.4_Missense_Mutation_p.R99C|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.R99C|MPP4_uc002uym.1_Missense_Mutation_p.R112C|MPP4_uc002uyn.3_Missense_Mutation_p.R99C	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	99	L27 2.					cytoplasm	protein binding	p.R99C(1)		kidney(1)|lung(11)	12						GGGGTTTCACGTAATAACTCC	0.408													A	202552079	G	A	202552079	3	1	273	1	0	0	0	0	1	0	0	0	9812	1145	40	1	1690	1	MPP4	2	202552079	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	16820969	202552079	40647294	11	19123											
SHISA5	51246	broad.mit.edu	37	chr3	48520627	48520627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgaaacctcagcgcCgagcccagctgctccaccgg	8	3	12	18	4	1	0	1	0	0	0	2	2	2	0	6	2	5	2	6	2	1	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:48520627C>T	uc003ctp.1	-	2	407	c.273G>A	c.(271-273)tcG>tcA	p.S91S	SHISA5_uc011bbl.2_5'UTR|SHISA5_uc003cto.1_Silent_p.S60S|SHISA5_uc003cts.1_Silent_p.S60S	NM_016479	NP_057563	Q8N114	SHSA5_HUMAN	Homo sapiens shisa homolog 5 (Xenopus laevis) (SHISA5), mRNA.	91					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|integral to membrane|nuclear membrane	signal transducer activity|WW domain binding			large_intestine(1)|lung(1)	2						ACCTCAGCGCCGAGCCCAGCT	0.592													T	48520627	C	T	48520627	2	4	273	1	0	0	0	0	0	0	0	1	14377	639	23	1		1	SHISA5	3	48520627	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		48520627	149501803	12	19124											
CACNA2D2	9254	broad.mit.edu	37	chr3	50513588	50513588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaaaatccgcatcacGccgtcgacctcctgctccag	9	7	6	19	4	1	0	1	0	0	0	6	1	5	0	7	0	1	2	7	0	2	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:50513588G>A	uc003daq.3	-	1	287	c.249C>T	c.(247-249)ggC>ggT	p.G83G	CACNA2D2_uc003dap.3_Silent_p.G83G	NM_001174051	NP_001167522	Q9NY47	CA2D2_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 2 (CACNA2D2), transcript variant 3, mRNA.	83					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.G83D(1)		breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TCCGCATCACGCCGTCGACCT	0.632													A	50513588	G	A	50513588	2	1	273	1	0	0	0	0	0	0	0	1	2575	1074	38	1		1	CACNA2D2	3	50513588	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	1992961	50513588	147508842	13	19125											
PIK3CA	5290	broad.mit.edu	37	chr3	178916726	178916726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactttagaatgcctccGtgaggctacattaataacca	13	11	8	9	1	0	3	0	2	0	1	1	3	1	3	3	1	3	1	3	1	5	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr3:178916726G>A	uc003fjk.3	+	1	270	c.113G>A	c.(112-114)cGt>cAt	p.R38H		NM_006218	NP_006209	P42336	PK3CA_HUMAN	Homo sapiens phosphoinositide-3-kinase, catalytic, alpha polypeptide (PIK3CA), mRNA.	38	PI3K-ABD.		R -> H (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R38H(18)|p.R38L(3)|p.R38C(2)|p.R38S(1)|p.R38G(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGCCTCCGTGAGGCTACA	0.393		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916726	G	A	178916726	3	1	273	1	0	0	0	0	1	0	0	0	11990	1145	40	1	115	1	PIK3CA	3	178916726	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	128403138	178916726	19105704	14	19126											
PF4V1	5197	broad.mit.edu	37	chr4	74719597	74719597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggaggtgatcaaggcCggaccccactgccccactgc	8	5	12	16	1	1	1	1	1	0	0	1	3	1	3	6	4	3	0	6	4	1	0	rs147144357		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:74719597C>T	uc003hhg.1	+	1	265	c.198C>T	c.(196-198)gcC>gcT	p.A66A		NM_002620	NP_002611	P10720	PF4V_HUMAN	Homo sapiens platelet factor 4 variant 1 (PF4V1), mRNA.	66					immune response	extracellular region	chemokine activity|heparin binding	p.A66G(2)		endometrium(1)|liver(2)	3	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			TGATCAAGGCCGGACCCCACT	0.612													T	74719597	C	T	74719597	2	4	273	1	0	0	0	0	0	0	0	1	11830	639	23	1		1	PF4V1	4	74719597	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		74719597	116434679	15	19127											
TACR3	6870	broad.mit.edu	37	chr4	104579420	104579420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgcacaaagcagagagtaCggcctggcatgactttggtt	11	10	12	8	1	0	2	0	1	0	1	0	3	0	2	1	3	3	5	1	3	2	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:104579420C>T	uc003hxe.1	-	1	830	c.689G>A	c.(688-690)cGt>cAt	p.R230H		NM_001059	NP_001050	P29371	NK3R_HUMAN	Homo sapiens tachykinin receptor 3 (TACR3), mRNA.	230						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GCAGAGAGTACGGCCTGGCAT	0.393													T	104579420	C	T	104579420	3	4	273	1	0	0	0	0	1	0	0	0	15604	536	19	1	724	1	TACR3	4	104579420	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	29859823	104579420	86574856	16	19128											
ZNF827	152485	broad.mit.edu	37	chr4	146697085	146697085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttagcagcataggggCacaagtggcatttgtatttt	10	12	12	7	0	0	0	0	0	0	0	0	0	0	0	0	4	2	6	0	4	4	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:146697085C>T	uc003ikn.3	-	9	2597	c.2549G>A	c.(2548-2550)tGc>tAc	p.C850Y	ZNF827_uc003ikm.3_Missense_Mutation_p.C850Y|ZNF827_uc010iox.3_Missense_Mutation_p.C500Y|ZNF827_uc003ikl.3_5'UTR	NM_178835	NP_849157	Q17R98	ZN827_HUMAN	Homo sapiens zinc finger protein 827 (ZNF827), mRNA.	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					AGCATAGGGGCACAAGTGGCA	0.498													T	146697085	C	T	146697085	3	4	273	1	0	0	0	0	1	0	0	0	18279	710	25	2	700	2	ZNF827	4	146697085	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	42117665	146697085	44457191	17	19129											
ODZ3	55714	broad.mit.edu	37	chr4	183651467	183651467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatactattacccgccaggaCggaatgtgagttagtcccat	11	11	9	10	2	0	1	0	1	0	0	1	3	1	3	3	2	2	1	3	2	6	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr4:183651467C>T	uc003ivd.1	+	13	2775	c.2700C>T	c.(2698-2700)gaC>gaT	p.D900D	ODZ3_uc003ive.1_Silent_p.D306D	NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	900					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		CCCGCCAGGACGGAATGTGAG	0.398													T	183651467	C	T	183651467	2	4	273	1	0	0	0	0	0	0	0	1	10912	535	19	1		1	ODZ3	4	183651467	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	36954382	183651467	7502809	18	19130											
FCHO2	115548	broad.mit.edu	37	chr5	72383422	72383422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttttctttgtaggttctgGgtccctccgagcaaaatttg	6	17	9	9	1	3	0	0	0	3	0	5	1	5	0	2	2	1	3	2	2	3	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:72383422G>A	uc003kcl.3	+	24	2368	c.2252G>A	c.(2251-2253)gGg>gAg	p.G751E	FCHO2_uc011csl.2_Missense_Mutation_p.G718E|FCHO2_uc010izb.3_Missense_Mutation_p.G179E|FCHO2_uc011csn.2_Missense_Mutation_p.G179E	NM_138782	NP_620137	Q0JRZ9	FCHO2_HUMAN	Homo sapiens FCH domain only 2 (FCHO2), transcript variant 1, mRNA.	751										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		GTAGGTTCTGGGTCCCTCCGA	0.398													A	72383422	G	A	72383422	3	1	273	1	0	0	0	0	1	0	0	0	5837	1232	43	2	2350	2	FCHO2	5	72383422	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		72383422	108531838	19	19131											
GABRA6	2559	broad.mit.edu	37	chr5	161119060	161119060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgtttgctttgcattcGtcttctctgcgcttatcgag	4	18	9	10	3	2	0	0	0	2	0	5	1	2	0	0	0	4	5	0	0	2	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr5:161119060G>A	uc003lyu.2	+	7	1278	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	GABRA6_uc003lyv.2_Missense_Mutation_p.V85I	NM_000811	NP_000802	Q16445	GBRA6_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 6 (GABRA6), mRNA.	314					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity	p.V314I(2)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTTTGCATTCGTCTTCTCTGC	0.478										TCGA Ovarian(5;0.080)			A	161119060	G	A	161119060	3	1	273	1	0	0	0	0	1	0	0	0	6217	1145	40	1	970	1	GABRA6	5	161119060	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	88735638	161119060	19796200	20	19132											
LRRC16A	55604	broad.mit.edu	37	chr6	25450163	25450163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccatggagccatctgagCgcctggctagtctccaggcg	6	9	12	14	2	3	1	0	1	3	0	5	2	3	2	4	3	2	1	4	3	1	1			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:25450163C>T	uc011djw.2	+	5	777	c.409C>T	c.(409-411)Cgc>Tgc	p.R137C	LRRC16A_uc010jpy.3_Missense_Mutation_p.R137C|LRRC16A_uc003nez.1_5'Flank	NM_017640	NP_060110	Q5VZK9	LR16A_HUMAN	Homo sapiens leucine rich repeat containing 16A (LRRC16A), transcript variant 1, mRNA.	137					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCCATCTGAGCGCCTGGCTAG	0.468													T	25450163	C	T	25450163	3	4	273	1	0	0	0	0	1	0	0	0	9041	768	27	1	431	1	LRRC16A	6	25450163	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08		25450163	145664904	21	19133											
ABCF1	23	broad.mit.edu	37	chr6	30548286	30548286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggaaggagaaggccaagaAggcagagcaggtgtgtattt	14	6	17	4	0	0	3	0	0	0	3	0	5	0	4	1	5	1	3	1	5	5	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:30548286A>G	uc003nql.3	+	7	763	c.668A>G	c.(667-669)aAg>aGg	p.K223R	ABCF1_uc003nqk.2_Missense_Mutation_p.K224R|ABCF1_uc003nqm.3_Missense_Mutation_p.K223R	NM_001025091	NP_001020262	Q8NE71	ABCF1_HUMAN	Homo sapiens ATP-binding cassette, sub-family F (GCN20), member 1 (ABCF1), transcript variant 1, mRNA.	223	Glu-rich.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						AAGGCCAAGAAGGCAGAGCAG	0.453													G	30548286	A	G	30548286	3	3	273	1	0	0	0	0	1	0	0	0	65	72	3	3	698	3	ABCF1	6	30548286	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08	5098123	30548286	140566781	22	19134											
CYP21A2	1589	broad.mit.edu	37	chr6	31973481	31973483	+	In_Frame_Del	DEL	CTG	CTG	-																															ttgccatgctgctcctgggcCtgctgctgctgctgcccctg																										TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr6:31973481_31973483delCTG	uc021yvd.1	+	0	123_125	c.16_18delCTG	c.(16-18)ctgdel	p.L10del	CYP21A1P_uc021yve.1_5'UTR			P08686	CP21A_HUMAN	Homo sapiens cytochrome P450, family 21, subfamily A, polypeptide 2 (CYP21A2), transcript variant 1, mRNA.	9					glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|steroid 21-monooxygenase activity|steroid binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	11						gctcctgggcctgctgctgctgc	0.66													-	31973483	CTG	-	31973481	7	5	273	1	0	1	0	1	0	0	0	0	4186	680	24	0	18	0	CYP21A2	6	31973481	In_Frame_Del	DEL	CTG	TCGA-76-6286-01A-11D-1845-08	1425195	31973481	139141586	23	19135											
ZDHHC4	55146	broad.mit.edu	37	chr7	6628405	6628405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactgggcctggtgccagcGttgtccccttgtggcctggc	2	11	15	13	1	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	0	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:6628405G>A	uc003sqi.3	+	8	1257	c.899G>A	c.(898-900)cGt>cAt	p.R300H	ZDHHC4_uc003sql.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqj.3_Missense_Mutation_p.R300H|ZDHHC4_uc003sqh.3_Missense_Mutation_p.R300H|C7orf26_uc003sqo.1_5'Flank|C7orf26_uc003sqp.1_5'Flank	NM_001134388	NP_060576	Q9NPG8	ZDHC4_HUMAN	Homo sapiens zinc finger, DHHC-type containing 4 (ZDHHC4), transcript variant 2, mRNA.	300						integral to membrane	acyltransferase activity|zinc ion binding	p.R300H(4)|p.Q299*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		TGGTGCCAGCGTTGTCCCCTT	0.577													A	6628405	G	A	6628405	3	1	273	1	0	0	0	0	1	0	0	0	17718	1145	40	1	921	1	ZDHHC4	7	6628405	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		6628405	152510258	24	19136											
PCLO	27445	broad.mit.edu	37	chr7	82583736	82583736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagagaaggtgtgtcagagGgtgggacagatgtagcactt	11	9	17	4	0	1	4	1	1	0	3	1	6	1	5	0	3	1	2	0	3	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:82583736G>T	uc003uhx.2	-	4	6822	c.6533C>A	c.(6532-6534)cCc>cAc	p.P2178H	PCLO_uc003uhv.2_Missense_Mutation_p.P2178H|PCLO_uc010lec.3_5'Flank	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN	Homo sapiens piccolo (presynaptic cytomatrix protein) (PCLO), transcript variant 1, mRNA.	2109					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTGTCAGAGGGTGGGACAGA	0.428													T	82583736	G	T	82583736	3	4	273	1	0	0	0	0	1	0	0	0	11659	1232	43	4	8996	4	PCLO	7	82583736	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	75955331	82583736	76554927	25	19137											
MUC17	140453	broad.mit.edu	37	chr7	100684314	100684314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagccacttcatctacaaCtgctgaaggtaccagcattc	12	10	7	12	0	2	2	1	2	1	0	3	2	2	2	2	1	6	3	2	1	5	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:100684314C>G	uc003uxp.1	+	2	9670	c.9617C>G	c.(9616-9618)aCt>aGt	p.T3206S	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	3206	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)					TCATCTACAACTGCTGAAGGT	0.502													G	100684314	C	G	100684314	3	3	273	1	0	0	0	0	1	0	0	0	10050	565	20	4	9627	4	MUC17	7	100684314	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	18100578	100684314	58454349	26	19138											
EZH2	2146	broad.mit.edu	37	chr7	148529726	148529726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatatcttatttacatacCataaaattctgctgtagggg	14	14	7	6	0	2	1	0	0	2	1	2	1	2	1	1	2	3	2	1	2	8	8			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr7:148529726C>G	uc003wfd.2	-	4	556	c.363_splice	c.e4+1	p.M121_splice	EZH2_uc022aov.1_Intron|EZH2_uc011kug.2_Splice_Site_p.M112_splice|EZH2_uc003wfb.2_Splice_Site_p.M121_splice|EZH2_uc003wfc.2_Intron|EZH2_uc011kuh.2_Splice_Site_p.M112_splice|EZH2_uc011kui.2_Splice_Site_p.M121_splice|EZH2_uc011kuj.2_Splice_Site	NM_001203247	NP_001190176	Q15910	EZH2_HUMAN	Homo sapiens enhancer of zeste homolog 2 (Drosophila) (EZH2), transcript variant 3, mRNA.	121	Interaction with DNMT1, DNMT3A and DNMT3B.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATTTACATACCATAAAATTCT	0.313			Mis		DLBCL								G	148529726	C	G	148529726	3	3	273	1	0	0	0	0	1	0	0	0	5376	608	21	4	1960	4	EZH2	7	148529726	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47845412	148529726	10608937	27	19139											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22972207	22972207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactggagcctgtaacccGtgcacagagggtgtggatta	10	9	13	9	1	0	1	0	0	0	1	0	3	0	3	2	3	4	2	2	3	3	3	rs74480765	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:22972207G>A	uc003xcy.3	+	2	512	c.204G>A	c.(202-204)ccG>ccA	p.P68P	TNFRSF10C_uc011kzr.2_Non-coding_Transcript	NM_003841	NP_003832	O14798	TR10C_HUMAN	Homo sapiens tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain (TNFRSF10C), mRNA.	68					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CCTGTAACCCGTGCACAGAGG	0.468													A	22972207	G	A	22972207	2	1	273	1	0	0	0	0	0	0	0	1	16382	1132	40	1		1	TNFRSF10C	8	22972207	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		22972207	123391815	28	19140											
SLCO5A1	81796	broad.mit.edu	37	chr8	70617355	70617355	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatagtaaagacacaccActgcagatcattgctagttt	16	10	6	9	0	1	2	1	0	0	2	1	2	1	2	1	0	3	4	1	0	5	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:70617355A>G	uc003xyl.3	-	5	2240	c.1533T>C	c.(1531-1533)agT>agC	p.S511S	SLCO5A1_uc010lzb.3_Silent_p.S456S|SLCO5A1_uc011lfa.2_Intron|SLCO5A1_uc003xyk.3_Silent_p.S511S|SLCO5A1_uc010lzc.2_Silent_p.S456S	NM_030958	NP_112220	Q9H2Y9	SO5A1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 5A1 (SLCO5A1), transcript variant 1, mRNA.	511						integral to membrane|plasma membrane	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	53	Breast(64;0.0654)		Epithelial(68;0.0141)|OV - Ovarian serous cystadenocarcinoma(28;0.0315)|all cancers(69;0.0594)			AAGACACACCACTGCAGATCA	0.408													G	70617355	A	G	70617355	2	3	273	1	0	0	0	0	0	0	0	1	14825	156	6	3		3	SLCO5A1	8	70617355	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	47645148	70617355	75746667	29	19141											
RIMS2	9699	broad.mit.edu	37	chr8	104897848	104897848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgatccgaatttggccCgttatccagtaaagccacaa	13	9	9	10	2	0	1	0	1	0	0	2	3	2	1	4	1	1	2	4	1	6	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr8:104897848C>T	uc003yls.3	+	1	596	c.355C>T	c.(355-357)Cgt>Tgt	p.R119C	RIMS2_uc003ylp.3_Missense_Mutation_p.R341C|RIMS2_uc003ylw.2_Missense_Mutation_p.R149C|RIMS2_uc003ylq.3_Missense_Mutation_p.R149C|RIMS2_uc003ylr.3_Missense_Mutation_p.R149C	NM_014677	NP_055492	Q9UQ26	RIMS2_HUMAN	Homo sapiens regulating synaptic membrane exocytosis 2 (RIMS2), transcript variant 2, mRNA.	372	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			GAATTTGGCCCGTTATCCAGT	0.473										HNSCC(12;0.0054)			T	104897848	C	T	104897848	3	4	273	1	0	0	0	0	1	0	0	0	13459	652	23	1	1161	1	RIMS2	8	104897848	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	34280493	104897848	41466174	30	19142											
CNTLN	54875	broad.mit.edu	37	chr9	17330744	17330744	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaactgtcagaaaacAtatctgccaacaagggtttc	17	9	7	8	0	2	2	1	1	1	1	3	2	2	2	1	1	4	1	1	1	7	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:17330744A>G	uc003zmz.2	+	8	1482	c.1456A>G	c.(1456-1458)Ata>Gta	p.I486V	CNTLN_uc003zmy.3_Missense_Mutation_p.I486V|CNTLN_uc010mio.3_Missense_Mutation_p.I165V	NM_017738	NP_060208	Q9NXG0	CNTLN_HUMAN	Homo sapiens centlein, centrosomal protein (CNTLN), transcript variant 1, mRNA.	486						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GTCAGAAAACATATCTGCCAA	0.368													G	17330744	A	G	17330744	3	3	273	1	0	0	0	0	1	0	0	0	3670	217	8	3	1520	3	CNTLN	9	17330744	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		17330744	123882687	31	19143											
FBXO10	26267	broad.mit.edu	37	chr9	37515999	37515999	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttgccctggaagatGatgttttcctgcaccagggc	6	13	12	10	0	0	2	0	1	0	1	1	3	1	3	3	3	2	3	3	3	1	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:37515999G>T	uc004aac.3	-	9	2726	c.2646C>A	c.(2644-2646)atC>atA	p.I882I	FBXO10_uc004aab.3_Silent_p.I866I|FBXO10_uc004aad.3_Silent_p.I416I	NM_012166	NP_036298	Q9UK96	FBX10_HUMAN	Homo sapiens F-box protein 10 (FBXO10), mRNA.	866						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		CCTGGAAGATGATGTTTTCCT	0.522													T	37515999	G	T	37515999	2	4	273	1	0	0	0	0	0	0	0	1	5775	1280	45	4		4	FBXO10	9	37515999	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	20185255	37515999	103697432	32	19144											
TMC1	117531	broad.mit.edu	37	chr9	75435855	75435855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccgttatgtgctgcaatGttcctgaggccagggtcttc	5	12	14	10	1	1	1	0	1	1	0	3	1	2	1	3	3	2	4	3	3	2	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:75435855G>A	uc004aiz.1	+	19	2401	c.1861G>A	c.(1861-1863)Gtt>Att	p.V621I	TMC1_uc010moz.1_Missense_Mutation_p.V579I|TMC1_uc004aja.1_Non-coding_Transcript|TMC1_uc004ajb.1_Non-coding_Transcript|TMC1_uc004ajc.1_Missense_Mutation_p.V475I|TMC1_uc010mpa.1_Missense_Mutation_p.V475I	NM_138691	NP_619636	Q8TDI8	TMC1_HUMAN	Homo sapiens transmembrane channel-like 1 (TMC1), mRNA.	621					sensory perception of sound	integral to membrane		p.N620S(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGCTGCAATGTTCCTGAGGC	0.502													A	75435855	G	A	75435855	3	1	273	1	0	0	0	0	1	0	0	0	16084	1377	48	2	1923	2	TMC1	9	75435855	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	37919856	75435855	65777576	33	19145											
ASTN2	23245	broad.mit.edu	37	chr9	119770488	119770488	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaagcttggccgggtttaAccagtcggagatgtccaggt	9	9	15	8	2	0	1	0	0	0	1	2	3	1	2	3	5	2	2	3	5	2	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:119770488A>G	uc004bjt.2	-	5	1422	c.1321T>C	c.(1321-1323)Tta>Cta	p.L441L	ASTN2_uc022bml.1_Silent_p.L141L|ASTN2_uc022bmm.1_Silent_p.L141L	NM_014010	NP_054729	O75129	ASTN2_HUMAN	Homo sapiens astrotactin 2 (ASTN2), transcript variant 1, mRNA.	492						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCGGGTTTAACCAGTCGGAG	0.512													G	119770488	A	G	119770488	2	3	273	1	0	0	0	0	0	0	0	1	1070	40	2	3		3	ASTN2	9	119770488	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	44334633	119770488	21442943	34	19146											
GPSM1	26086	broad.mit.edu	37	chr9	139250804	139250804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccccgcagcccagccctcGatgacggcctcgccccagac	6	3	9	23	4	0	2	0	1	0	1	2	3	0	2	8	1	2	1	8	1	0	0	rs79557901	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr9:139250804G>A	uc004chd.2	+	12	1843	c.1623G>A	c.(1621-1623)tcG>tcA	p.S541S	GPSM1_uc011mdu.1_Silent_p.S32S|GPSM1_uc022bpn.1_Silent_p.S32S|GPSM1_uc004che.2_Silent_p.S32S	NM_001145638	NP_001139110	Q86YR5	GPSM1_HUMAN	Homo sapiens G-protein signaling modulator 1 (GPSM1), transcript variant 1, mRNA.	541					cell differentiation|nervous system development|signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|plasma membrane	binding|GTPase activator activity			biliary_tract(1)|endometrium(1)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.39e-06)|Epithelial(140;3.24e-06)		CCCAGCCCTCGATGACGGCCT	0.716													A	139250804	G	A	139250804	2	1	273	1	0	0	0	0	0	0	0	1	6789	1045	37	1		1	GPSM1	9	139250804	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	19480316	139250804	1962627	35	19147											
KIAA0913	23053	broad.mit.edu	37	chr10	75556970	75556970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttggcacttggcagtcGtggaggctataatggacggg	7	9	16	9	3	0	0	0	0	0	0	1	2	0	2	1	6	0	4	1	6	2	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:75556970G>A	uc001jvj.3	+	16	3614	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	KIAA0913_uc001jve.3_Missense_Mutation_p.R1125H|KIAA0913_uc009xrl.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvf.3_Missense_Mutation_p.R1120H|KIAA0913_uc001jvh.3_Non-coding_Transcript|KIAA0913_uc001jvi.3_Missense_Mutation_p.R555H|KIAA0913_uc010qkr.2_Missense_Mutation_p.R543H|KIAA0913_uc009xrn.2_5'Flank	NM_001242488	NP_001229417	A7E2V4	K0913_HUMAN	Homo sapiens KIAA0913 (KIAA0913), transcript variant 3, mRNA.	1120							zinc ion binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|lung(6)	19	Prostate(51;0.0112)					CTTGGCAGTCGTGGAGGCTAT	0.577													A	75556970	G	A	75556970	3	1	273	1	0	0	0	0	1	0	0	0	8258	1145	40	1	3440	1	KIAA0913	10	75556970	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		75556970	59977777	36	19148											
PTEN	5728	broad.mit.edu	37	chr10	89720661	89720661	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttttttaggacaaaatgtTtcacttttgggtaaatacat	12	19	6	4	0	1	0	1	0	0	0	1	1	1	1	0	2	1	2	0	2	6	9	rs142420551		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr10:89720661T>C	uc001kfb.3	+	7	1844	c.812T>C	c.(811-813)tTt>tCt	p.F271S	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	271	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.F271S(4)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.M270I(1)|p.F271L(1)|p.G165_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GACAAAATGTTTCACTTTTGG	0.274		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89720661	T	C	89720661	3	2	273	1	0	0	0	0	1	0	0	0	12823	1841	64	3	842	3	PTEN	10	89720661	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	14163691	89720661	45814086	37	19149											
MUC5B	727897	broad.mit.edu	37	chr11	1273709	1273709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgccccgctgtcctcGccctcccctgcccctggctg	0	9	8	24	3	0	0	0	0	0	0	5	0	4	0	10	1	1	2	10	1	0	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:1273709G>A	uc001lta.3	+	31	15059	c.15000G>A	c.(14998-15000)tcG>tcA	p.S5000S		NM_002458	NP_002449	Q9HC84	MUC5B_HUMAN	Homo sapiens mucin 5B, oligomeric mucus/gel-forming (MUC5B), mRNA.	5000					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CGCTGTCCTCGCCCTCCCCTG	0.682													A	1273709	G	A	1273709	2	1	273	1	0	0	0	0	0	0	0	1	10055	1074	38	1		1	MUC5B	11	1273709	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		1273709	133732807	38	19150											
OR5P2	120065	broad.mit.edu	37	chr11	7818411	7818411	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcatgaagaggatgactcGaaggattggatcatctgtta	13	11	12	5	1	3	3	2	2	1	1	4	8	3	6	0	3	0	1	0	3	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:7818411G>A	uc001mfp.1	-	0	79	c.79C>T	c.(79-81)Cga>Tga	p.R27*		NM_153444	NP_703145	Q8WZ92	OR5P2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily P, member 2 (OR5P2), mRNA.	27					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L26F(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGGATGACTCGAAGGATTGGA	0.428													A	7818411	G	A	7818411	4	1	273	1	0	0	0	0	0	1	0	0	11254	1066	37	1	893	1	OR5P2	11	7818411	Nonsense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	6544702	7818411	127188105	39	19151											
OR5W2	390148	broad.mit.edu	37	chr11	55681277	55681277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaataggaagaacttggcCggaaatacataaagagcaga	19	5	12	5	1	0	4	0	0	0	4	0	7	0	6	1	3	3	1	1	3	8	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:55681277C>T	uc010rir.2	-	0	782	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001960	NP_001001960	Q8NH69	OR5W2_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily W, member 2 (OR5W2), mRNA.	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R261W(2)|p.R261Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						AGAACTTGGCCGGAAATACAT	0.443													T	55681277	C	T	55681277	3	4	273	1	0	0	0	0	1	0	0	0	11261	652	23	1	152	1	OR5W2	11	55681277	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47862866	55681277	79325239	40	19152											
MAP3K11	4296	broad.mit.edu	37	chr11	65375157	65375157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagaccctggatctcgcgCttccagccttcctgcatgga	8	9	10	14	2	1	1	0	0	1	1	4	4	3	3	4	2	2	2	4	2	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:65375157C>T	uc001oew.3	-	3	1693	c.1200G>A	c.(1198-1200)aaG>aaA	p.K400K	MAP3K11_uc001oev.3_5'Flank|MAP3K11_uc010rol.2_Silent_p.K143K|MAP3K11_uc001oex.1_5'UTR	NM_002419	NP_002410	Q16584	M3K11_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase 11 (MAP3K11), mRNA.	400					activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGATCTCGCGCTTCCAGCCTT	0.617													T	65375157	C	T	65375157	2	4	273	1	0	0	0	0	0	0	0	1	9320	796	28	2		2	MAP3K11	11	65375157	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	9693880	65375157	69631359	41	19153											
HEPHL1	341208	broad.mit.edu	37	chr11	93808410	93808410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggacagtgcctgagagCgtaagcccaactgctggtga	11	7	14	9	1	0	2	0	2	0	1	0	4	0	3	2	2	5	2	2	2	3	1	rs61746203		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:93808410C>T	uc001pep.2	+	8	1732	c.1575C>T	c.(1573-1575)agC>agT	p.S525S	AF086184_uc001pen.1_Intron	NM_001098672	NP_001092142	Q6MZM0	HPHL1_HUMAN	Homo sapiens hephaestin-like 1 (HEPHL1), mRNA.	525	Plastocyanin-like 3.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TGCCTGAGAGCGTAAGCCCAA	0.468													T	93808410	C	T	93808410	2	4	273	1	0	0	0	0	0	0	0	1	7110	767	27	1		1	HEPHL1	11	93808410	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	28433253	93808410	41198106	42	19154											
PDZD3	79849	broad.mit.edu	37	chr11	119059542	119059542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggcttccgactcagttGtgtggccagtgggcctcgtc	4	12	13	12	2	1	0	1	0	0	0	4	1	2	0	3	3	0	2	3	3	1	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr11:119059542G>T	uc001pwb.3	+	6	1975	c.1451G>T	c.(1450-1452)tGt>tTt	p.C484F	PDZD3_uc001pvz.3_Missense_Mutation_p.C418F|PDZD3_uc010rzd.2_Missense_Mutation_p.C405F|PDZD3_uc001pvy.3_Missense_Mutation_p.C404F|PDZD3_uc001pwa.3_Missense_Mutation_p.C114F			Q86UT5	NHRF4_HUMAN	Homo sapiens PDZ domain containing 3 (PDZD3), transcript variant 3, non-coding RNA.	484	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		CGACTCAGTTGTGTGGCCAGT	0.572													T	119059542	G	T	119059542	3	4	273	1	0	0	0	0	1	0	0	0	11778	1377	48	4	1287	4	PDZD3	11	119059542	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	25251132	119059542	15946974	43	19155											
CSDA	8531	broad.mit.edu	37	chr12	10854621	10854621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccggtaattgtagggacGccggtatccacggcgaacag	10	6	14	11	6	0	0	0	0	0	0	1	2	1	1	3	4	1	3	3	4	4	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:10854621G>A	uc001qyt.3	-	7	1234	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	CSDA_uc001qyu.3_Missense_Mutation_p.R262C	NM_003651	NP_003642	P16989	DBPA_HUMAN	Homo sapiens cold shock domain protein A (CSDA), transcript variant 1, mRNA.	331					negative regulation of transcription from RNA polymerase II promoter|response to cold	cytoplasm|nucleus	double-stranded DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|skin(1)	19	Glioma(1;0.155)					TTGTAGGGACGCCGGTATCCA	0.567													A	10854621	G	A	10854621	3	1	273	1	0	0	0	0	1	0	0	0	3960	1087	38	1	135	1	CSDA	12	10854621	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		10854621	122997274	44	19156											
KRT86	3892	broad.mit.edu	37	chr12	52699175	52699175	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgaggccgagtcctGgtaccgcagcaaggtgagtg	7	6	17	11	3	0	2	0	2	0	0	1	3	1	2	4	4	2	4	4	4	2	1			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:52699175G>A	uc010snq.2	+	5	1020	c.887G>A	c.(886-888)tGg>tAg	p.W296*	KRT86_uc009zmg.3_Nonsense_Mutation_p.W296*|KRT81_uc001sac.3_Intron|KRT86_uc001sad.3_Nonsense_Mutation_p.W296*	NM_002284	NP_002275	O43790	KRT86_HUMAN	Homo sapiens keratin 86 (KRT86), mRNA.	296	Coil 2.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCCGAGTCCTGGTACCGCAGC	0.542													A	52699175	G	A	52699175	4	1	273	1	0	0	0	0	0	1	0	0	8558	1357	47	2	905	2	KRT86	12	52699175	Nonsense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	41844554	52699175	81152720	45	19157											
PTPRB	5787	broad.mit.edu	37	chr12	70990028	70990028	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgaggtgacttttccggaAgaaggagtccaccaaacatg	13	9	11	8	1	0	3	0	2	0	1	2	5	2	5	3	3	1	0	3	3	4	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:70990028A>G	uc001swb.4	-	2	435	c.405T>C	c.(403-405)tcT>tcC	p.S135S	PTPRB_uc010sto.2_Silent_p.S135S|PTPRB_uc010stp.2_Silent_p.S135S|PTPRB_uc001swc.4_Silent_p.S353S|PTPRB_uc001swa.4_Silent_p.S353S|PTPRB_uc001swd.4_Silent_p.S352S|PTPRB_uc009zrr.2_Silent_p.S232S|PTPRB_uc001swe.3_Silent_p.S353S	NM_002837	NP_002828	P23467	PTPRB_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, B (PTPRB), transcript variant 2, mRNA.	135	Fibronectin type-III 2.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CTTTTCCGGAAGAAGGAGTCC	0.408													G	70990028	A	G	70990028	2	3	273	1	0	0	0	0	0	0	0	1	12884	59	3	3		3	PTPRB	12	70990028	Silent	SNP	A	TCGA-76-6286-01A-11D-1845-08	18290853	70990028	62861867	46	19158											
RIMBP2	23504	broad.mit.edu	37	chr12	130907060	130907060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgccacggggaaacctcCggcccatgtgatccacccgt	7	6	11	17	4	0	1	0	1	0	0	2	2	2	2	6	3	2	1	6	3	1	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr12:130907060C>T	uc001uil.2	-	12	2624	c.2408G>A	c.(2407-2409)cGg>cAg	p.R803Q		NM_015347	NP_056162	O15034	RIMB2_HUMAN	Homo sapiens RIMS binding protein 2 (RIMBP2), mRNA.	803						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GGGAAACCTCCGGCCCATGTG	0.567													T	130907060	C	T	130907060	3	4	273	1	0	0	0	0	1	0	0	0	13452	652	23	1	778	1	RIMBP2	12	130907060	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	59917032	130907060	2944835	47	19159											
SACS	26278	broad.mit.edu	37	chr13	23913301	23913301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaattcccgactcataaTgatgggaatgtcagtgatat	13	12	9	7	1	2	3	2	3	0	0	3	5	3	4	1	1	0	0	1	1	4	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:23913301T>C	uc001uon.2	-	9	5303	c.4714A>G	c.(4714-4716)Att>Gtt	p.I1572V	SACS_uc001uoo.2_Missense_Mutation_p.I1425V|SACS_uc001uop.1_Intron|SACS_uc001uoq.1_Intron	NM_014363	NP_055178	Q9NZJ4	SACS_HUMAN	Homo sapiens spastic ataxia of Charlevoix-Saguenay (sacsin) (SACS), mRNA.	1572					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CGACTCATAATGATGGGAATG	0.338													C	23913301	T	C	23913301	3	2	273	1	0	0	0	0	1	0	0	0	13895	1464	51	3	9029	3	SACS	13	23913301	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08		23913301	91256577	48	19160											
RB1	5925	broad.mit.edu	37	chr13	48941694	48941694	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagatctagatgcaagatTatttttggatcatgataaaa	17	14	7	3	0	2	4	1	1	1	3	2	5	2	5	0	1	1	1	0	1	7	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:48941694T>G	uc001vcb.3	+	9	1170	c.1004T>G	c.(1003-1005)tTa>tGa	p.L335*	RB1_uc010act.1_Nonsense_Mutation_p.L36*	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	335					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GATGCAAGATTATTTTTGGAT	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			G	48941694	T	G	48941694	4	3	273	1	0	0	0	0	0	1	0	0	13186	1764	61	5	1042	5	RB1	13	48941694	Nonsense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	25028393	48941694	66228184	49	19161											
FARP1	10160	broad.mit.edu	37	chr13	98865588	98865588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaacgtggacagaagcCgcccccaacaccttcaggaa	12	5	10	14	2	1	1	1	0	0	1	1	4	1	4	4	3	3	0	4	3	4	2	rs113972742		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr13:98865588C>T	uc001vnh.3	+	1	331	c.92C>T	c.(91-93)cCg>cTg	p.P31L	FARP1_uc001vni.3_Missense_Mutation_p.P31L|FARP1_uc001vnj.3_Missense_Mutation_p.P31L	NM_005766	NP_005757	Q9Y4F1	FARP1_HUMAN	Homo sapiens FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived) (FARP1), transcript variant 1, mRNA.	31					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGACAGAAGCCGCCCCCAACA	0.537													T	98865588	C	T	98865588	3	4	273	1	0	0	0	0	1	0	0	0	5725	652	23	1	94	1	FARP1	13	98865588	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	49923894	98865588	16304290	50	19162											
OR11H12	440153	broad.mit.edu	37	chr14	19378054	19378054	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaatatcatgactgggcAtctctgtgccaaactggtca	10	12	8	11	0	3	1	2	1	1	0	5	1	4	1	2	2	2	1	2	2	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:19378054A>C	uc010tkp.2	+	0	461	c.461A>C	c.(460-462)cAt>cCt	p.H154P		NM_001013354	NP_001013372	B2RN74	O11HC_HUMAN	Homo sapiens olfactory receptor, family 11, subfamily H, member 12 (OR11H12), mRNA.	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G153W(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATGACTGGGCATCTCTGTGCC	0.478													C	19378054	A	C	19378054	3	2	273	1	0	0	0	0	1	0	0	0	11003	217	8	5	463	5	OR11H12	14	19378054	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		19378054	87971486	51	19163											
DYNC1H1	1778	broad.mit.edu	37	chr14	102467294	102467294	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgtttctctcgacagcttCgacaaaatttggatgccctc	9	14	7	11	2	1	0	0	0	1	0	5	3	1	1	1	1	2	2	1	1	3	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr14:102467294C>T	uc001yks.2	+	18	4242	c.4078C>T	c.(4078-4080)Cga>Tga	p.R1360*		NM_001376	NP_001367	Q14204	DYHC1_HUMAN	Homo sapiens dynein, cytoplasmic 1, heavy chain 1 (DYNC1H1), mRNA.	1360	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TCGACAGCTTCGACAAAATTT	0.443													T	102467294	C	T	102467294	4	4	273	1	0	0	0	0	0	1	0	0	4880	876	31	1	4152	1	DYNC1H1	14	102467294	Nonsense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	83089240	102467294	4882246	52	19164											
EHD4	30844	broad.mit.edu	37	chr15	42193062	42193062	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaccatctccttcttggcGttgacacctgatatcttgcc	6	14	7	14	1	4	2	1	2	3	0	5	2	4	2	4	1	1	1	4	1	1	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:42193062G>A	uc001zot.3	-	5	1470	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N		NM_139265	NP_644670	Q9H223	EHD4_HUMAN	Homo sapiens EH-domain containing 4 (EHD4), mRNA.	469	EH.				endocytic recycling|protein homooligomerization	early endosome membrane|endoplasmic reticulum|nucleus|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(7)|ovary(2)|stomach(1)|urinary_tract(1)	20		all_cancers(109;2.54e-12)|all_epithelial(112;6.59e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		OV - Ovarian serous cystadenocarcinoma(18;1.6e-19)|GBM - Glioblastoma multiforme(94;3.77e-06)|COAD - Colon adenocarcinoma(120;0.0474)|Colorectal(105;0.0538)		CCTTCTTGGCGTTGACACCTG	0.592													A	42193062	G	A	42193062	2	1	273	1	0	0	0	0	0	0	0	1	5019	1136	40	1		1	EHD4	15	42193062	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		42193062	60338330	53	19165											
KIF7	374654	broad.mit.edu	37	chr15	90188330	90188330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgggcctgggccagcCgccactctgaggctgtggca	4	8	15	14	1	2	1	0	1	2	0	2	1	2	1	4	4	2	3	4	4	0	0	rs149078926	byFrequency	TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr15:90188330C>T	uc002bof.2	-	9	2182	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	KIF7_uc010upw.1_Missense_Mutation_p.R188Q	NM_198525	NP_940927	Q2M1P5	KIF7_HUMAN	Homo sapiens kinesin family member 7 (KIF7), mRNA.	702					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			CTGGGCCAGCCGCCACTCTGA	0.652													T	90188330	C	T	90188330	3	4	273	1	0	0	0	0	1	0	0	0	8367	652	23	1	1966	1	KIF7	15	90188330	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	47995268	90188330	12343062	54	19166											
NXN	64359	broad.mit.edu	37	chr17	708351	708351	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgttaagctgcgcggcGttggagtcggagagctccag	6	8	15	12	5	0	1	0	0	0	1	3	3	1	2	2	3	3	4	2	3	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:708351G>A	uc002fsa.3	-	5	1037	c.957C>T	c.(955-957)aaC>aaT	p.N319N	NXN_uc010vqd.2_Intron|NXN_uc010vqe.2_Silent_p.N211N	NM_022463	NP_071908	Q6DKJ4	NXN_HUMAN	Homo sapiens nucleoredoxin (NXN), transcript variant 1, mRNA.	319	Thioredoxin.				cell differentiation|cell redox homeostasis|multicellular organismal development|Wnt receptor signaling pathway	cytosol|nucleus	protein-disulfide reductase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)	13				UCEC - Uterine corpus endometrioid carcinoma (25;0.0237)		GCTGCGCGGCGTTGGAGTCGG	0.692													A	708351	G	A	708351	2	1	273	1	0	0	0	0	0	0	0	1	10863	1136	40	1		1	NXN	17	708351	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08		708351	80486859	55	19167											
TP53	7157	broad.mit.edu	37	chr17	7572986	7572986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggcgggaggtagactGaccctttttggacttcaggt	7	14	13	7	1	1	2	1	1	0	1	1	4	1	4	1	5	0	1	1	5	2	6			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7572986G>T	uc002gim.2	-	10	1317	c.1123C>A	c.(1123-1125)Cag>Aag	p.Q375K	TP53_uc002gig.1_Intron|TP53_uc002gih.3_Intron|TP53_uc010cne.1_Non-coding_Transcript|TP53_uc010cng.1_3'UTR|TP53_uc010cnf.1_3'UTR|TP53_uc002gii.1_Missense_Mutation_p.Q243K|TP53_uc010cni.1_3'UTR|TP53_uc010cnh.1_3'UTR|TP53_uc002gij.2_Missense_Mutation_p.Q375K	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	375	Basic (repression of DNA-binding).|Interaction with CARM1.				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.0?(8)|p.Q375*(2)|p.?(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)		GAGGTAGACTGACCCTTTTTG	0.527		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)			T	7572986	G	T	7572986	3	4	273	1	0	0	0	0	1	0	0	0	16482	1299	45	4	62	4	TP53	17	7572986	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	6864635	7572986	73622224	56	19168											
TP53	7157	broad.mit.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	11	13	12	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:7577580T>C	uc002gim.2	-	6	895	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_uc002gig.1_Missense_Mutation_p.Y234C|TP53_uc002gih.3_Missense_Mutation_p.Y234C|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.Y102C|TP53_uc010cnf.1_Missense_Mutation_p.Y102C|TP53_uc002gii.1_Missense_Mutation_p.Y102C|TP53_uc010cni.1_Missense_Mutation_p.Y234C|TP53_uc010cnh.1_Missense_Mutation_p.Y234C|TP53_uc002gij.2_Missense_Mutation_p.Y234C|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.Y141C|TP53_uc002gio.2_Missense_Mutation_p.Y102C|DL476309_uc021tpg.1_Non-coding_Transcript|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	234	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 -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(172)|p.Y234H(18)|p.Y234S(15)|p.Y234N(12)|p.Y141C(8)|p.0?(8)|p.Y234del(6)|p.Y234D(5)|p.?(5)|p.Y234*(4)|p.H233fs*6(4)|p.H233Y(4)|p.H233L(2)|p.H233D(2)|p.Y234fs*2(2)|p.Y234fs*5(2)|p.Y234fs*4(2)|p.H233Q(2)|p.Y234R(2)|p.H233_C242del10(2)|p.Y234F(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(2)|p.T230_Y234delTTIHY(2)|p.Y141S(2)|p.V225fs*23(1)|p.Y234fs*6(1)|p.H233P(1)|p.H233R(1)|p.Y234Y(1)|p.H233fs*14(1)|p.D228fs*12(1)|p.H233fs*7(1)|p.I232_H233insG(1)|p.Y234_N235insX(1)|p.H233del(1)|p.I232fs*5(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)			C	7577580	T	C	7577580	3	2	273	1	0	0	0	0	1	0	0	0	16482	1638	57	3	589	3	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	4594	7577580	73617630	57	19169											
TBC1D3	729873	broad.mit.edu	37	chr17	36288289	36288289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgaagttgaaaaacccCggaagataccaggtacgctc	16	6	10	9	2	0	3	0	2	0	1	1	5	0	4	3	2	3	3	3	2	7	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:36288289C>T	uc010wdk.1	+	4	559	c.558C>T	c.(556-558)ccC>ccT	p.P186P	TBC1D3_uc002hoo.2_Silent_p.P125P|TBC1D3_uc002hop.2_Non-coding_Transcript|TBC1D3_uc010wdj.1_Silent_p.P45P|TBC1D3_uc010cvf.1_Silent_p.P125P|TBC1D3_uc002hoq.2_Silent_p.P125P|DQ586040_uc002hpl.3_5'Flank|DQ587906_uc002hor.3_5'Flank|DQ585853_uc021tvy.1_5'Flank	NM_032258	NP_115634	Q8IZP1	TBC3A_HUMAN	Homo sapiens TBC1 domain family, member 3F (TBC1D3F), mRNA.	125	Rab-GAP TBC.					intracellular	Rab GTPase activator activity	p.P125P(1)		breast(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5	Breast(7;2.97e-12)	Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGAAAAACCCCGGAAGATACC	0.572													T	36288289	C	T	36288289	2	4	273	1	0	0	0	0	0	0	0	1	15717	639	23	1		1	TBC1D3	17	36288289	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	28710709	36288289	44906921	58	19170											
GRB7	2886	broad.mit.edu	37	chr17	37901165	37901165	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcttcgaaatggccacaaGgggcttcggatcttctgcag	10	9	12	10	2	2	0	0	0	2	0	4	2	2	1	1	4	2	3	1	4	3	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:37901165G>C	uc002hsr.3	+	8	1214	c.939G>C	c.(937-939)aaG>aaC	p.K313N	GRB7_uc002hss.3_Missense_Mutation_p.K313N|GRB7_uc021twu.1_Missense_Mutation_p.K336N|GRB7_uc010cwc.3_Missense_Mutation_p.K313N|GRB7_uc002hst.3_Missense_Mutation_p.K313N	NM_005310	NP_005301	Q14451	GRB7_HUMAN	Homo sapiens growth factor receptor-bound protein 7 (GRB7), transcript variant 1, mRNA.	313	PH.				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			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)			ATGGCCACAAGGGGCTTCGGA	0.582													C	37901165	G	C	37901165	3	2	273	1	0	0	0	0	1	0	0	0	6814	991	35	4	969	4	GRB7	17	37901165	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	1612876	37901165	43294045	59	19171											
KRT25	147183	broad.mit.edu	37	chr17	38910206	38910206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagggttatttcatccaaaActcttcgtaacccattgaca	13	12	5	11	1	2	1	1	1	1	0	4	1	3	1	2	1	2	2	2	1	4	5			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:38910206A>G	uc002hve.3	-	2	636	c.575T>C	c.(574-576)gTt>gCt	p.V192A		NM_181534	NP_853512	Q7Z3Z0	K1C25_HUMAN	Homo sapiens keratin 25 (KRT25), mRNA.	192	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TTCATCCAAAACTCTTCGTAA	0.403													G	38910206	A	G	38910206	3	3	273	1	0	0	0	0	1	0	0	0	8520	43	2	3	801	3	KRT25	17	38910206	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08	1009041	38910206	42285004	60	19172											
INTS2	57508	broad.mit.edu	37	chr17	59946709	59946709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcatagatggaatacctgcGaccgtcagaggcaaaagttc	13	8	11	9	2	1	2	1	0	0	2	2	4	1	3	2	2	3	3	2	2	5	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:59946709G>A	uc002izn.3	-	21	3163	c.3087C>T	c.(3085-3087)gtC>gtT	p.V1029V	INTS2_uc002izm.3_Silent_p.V1021V	NM_020748	NP_065799	Q9H0H0	INT2_HUMAN	Homo sapiens integrator complex subunit 2 (INTS2), transcript variant 1, mRNA.	1029					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding	p.V1029V(2)		NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GAATACCTGCGACCGTCAGAG	0.373													A	59946709	G	A	59946709	2	1	273	1	0	0	0	0	0	0	0	1	7836	1045	37	1		1	INTS2	17	59946709	Silent	SNP	G	TCGA-76-6286-01A-11D-1845-08	21036503	59946709	21248501	61	19173											
MRPS7	51081	broad.mit.edu	37	chr17	73258939	73258939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtactggccagatccctCatgattcaggtaaacagcac	14	8	8	11	0	2	2	2	1	0	1	3	2	3	2	2	2	3	3	2	2	4	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr17:73258939C>T	uc002jnm.4	+	2	563	c.330C>T	c.(328-330)ctC>ctT	p.L110L	GGA3_uc002jnk.2_5'Flank|GGA3_uc002jni.2_5'Flank|GGA3_uc002jnj.2_5'Flank|GGA3_uc010wry.2_5'Flank|GGA3_uc010wrw.2_5'Flank|GGA3_uc010wrx.2_5'Flank|GGA3_uc010wrz.2_5'Flank	NM_015971	NP_057055	Q9Y2R9	RT07_HUMAN	Homo sapiens mitochondrial ribosomal protein S7 (MRPS7), nuclear gene encoding mitochondrial protein, mRNA.	110					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			CCAGATCCCTCATGATTCAGG	0.448													T	73258939	C	T	73258939	2	4	273	1	0	0	0	0	0	0	0	1	9924	813	29	2		2	MRPS7	17	73258939	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	13312230	73258939	7936271	62	19174											
GAMT	2593	broad.mit.edu	37	chr19	1397419	1397419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtagtagcggcagtcggccGgtgggaccagcgccatcacc	7	5	15	14	5	1	0	1	0	0	0	2	1	1	1	4	4	2	3	4	4	2	2	rs139890971		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:1397419G>A	uc002lsj.3	-	5	727	c.650C>T	c.(649-651)cCg>cTg	p.P217L	AK126693_uc002lsi.1_5'Flank	NM_000156	NP_000147	Q14353	GAMT_HUMAN	Homo sapiens guanidinoacetate N-methyltransferase (GAMT), transcript variant 1, mRNA.	217					creatine biosynthetic process|muscle contraction	cytosol	guanidinoacetate N-methyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|upper_aerodigestive_tract(1)	6		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Lung NSC(49;0.000195)|Breast(49;0.000231)|all_lung(49;0.000247)|Hepatocellular(1079;0.137)		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)	Creatine(DB00148)	GCAGTCGGCCGGTGGGACCAG	0.701													A	1397419	G	A	1397419	3	1	273	1	0	0	0	0	1	0	0	0	6285	1116	39	1	64	1	GAMT	19	1397419	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08		1397419	57731564	63	19175											
TJP3	27134	broad.mit.edu	37	chr19	3738562	3738562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctggcaggtgaatgacGtgccattccagaacctgaca	10	10	10	11	1	1	4	0	3	1	1	2	4	2	4	3	2	2	1	3	2	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:3738562G>A	uc010xhv.2	+	10	1393	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	TJP3_uc010xhs.2_Missense_Mutation_p.V432M|TJP3_uc010xht.2_Missense_Mutation_p.V396M|TJP3_uc010xhu.2_Missense_Mutation_p.V441M|TJP3_uc010xhw.2_Missense_Mutation_p.V451M	NM_014428	NP_055243	O95049	ZO3_HUMAN	Homo sapiens tight junction protein 3 (zona occludens 3) (TJP3), mRNA.	446						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GGTGAATGACGTGCCATTCCA	0.577													A	3738562	G	A	3738562	3	1	273	1	0	0	0	0	1	0	0	0	16031	1145	40	1	1435	1	TJP3	19	3738562	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	2341143	3738562	55390421	64	19176											
PNPLA6	10908	broad.mit.edu	37	chr19	7607932	7607932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagtcttgctgcaccacGccaaagctggcaccatcatt	10	8	9	14	1	2	1	1	0	1	1	2	1	2	1	3	1	3	5	3	1	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:7607932G>A	uc010xjq.2	+	14	1837	c.1597G>A	c.(1597-1599)Gcc>Acc	p.A533T	PNPLA6_uc002mgq.2_Missense_Mutation_p.A485T|PNPLA6_uc010xjp.2_Intron|PNPLA6_uc002mgr.2_Missense_Mutation_p.A485T|PNPLA6_uc002mgs.3_Missense_Mutation_p.A524T	NM_001166111	NP_001159583	Q8IY17	PLPL6_HUMAN	Homo sapiens patatin-like phospholipase domain containing 6 (PNPLA6), transcript variant 1, mRNA.	524					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCTGCACCACGCCAAAGCTGG	0.627													A	7607932	G	A	7607932	3	1	273	1	0	0	0	0	1	0	0	0	12246	1087	38	1	1651	1	PNPLA6	19	7607932	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	3869370	7607932	51521051	65	19177											
SLC1A6	6511	broad.mit.edu	37	chr19	15067342	15067342	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtagcatgcccccaatgaagGggaaggggttccggtgagtg	9	7	17	8	1	0	2	0	2	0	0	1	3	1	3	3	5	2	3	3	5	4	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15067342G>C	uc002naa.1	-	5	1122	c.1115C>G	c.(1114-1116)cCc>cGc	p.P372R	SLC1A6_uc010dzu.1_Intron|SLC1A6_uc010xod.1_Missense_Mutation_p.P308R	NM_005071	NP_005062	P48664	EAA4_HUMAN	Homo sapiens solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 (SLC1A6), mRNA.	372					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	CCCAATGAAGGGGAAGGGGTT	0.592													C	15067342	G	C	15067342	3	2	273	1	0	0	0	0	1	0	0	0	14530	1232	43	4	595	4	SLC1A6	19	15067342	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	7459410	15067342	44061641	66	19178											
RASAL3	64926	broad.mit.edu	37	chr19	15574925	15574925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttggagagtcgaaggCgactggtccgtgactccttg	6	9	16	10	3	0	2	0	1	0	1	3	5	2	2	3	4	0	0	3	4	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:15574925C>T	uc002nbe.2	-	1	331	c.245G>A	c.(244-246)cGc>cAc	p.R82H		NM_022904	NP_075055	Q86YV0	RASL3_HUMAN	Homo sapiens RAS protein activator like 3 (RASAL3), mRNA.	82					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						GAGTCGAAGGCGACTGGTCCG	0.672													T	15574925	C	T	15574925	3	4	273	1	0	0	0	0	1	0	0	0	13153	768	27	1	2858	1	RASAL3	19	15574925	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	507583	15574925	43554058	67	19179											
F2RL3	9002	broad.mit.edu	37	chr19	17000842	17000842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgcgccctgcgtggcCggcgcctggcccttggactc	1	6	16	18	5	0	0	0	0	0	0	1	1	0	1	5	5	1	0	5	5	0	1			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:17000842C>T	uc002nfa.3	+	1	743	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_003950	NP_003941	Q96RI0	PAR4_HUMAN	Homo sapiens coagulation factor II (thrombin) receptor-like 3 (F2RL3), mRNA.	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CCTGCGTGGCCGGCGCCTGGC	0.711													T	17000842	C	T	17000842	3	4	273	1	0	0	0	0	1	0	0	0	5388	643	23	1	574	1	F2RL3	19	17000842	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	1425917	17000842	42128141	68	19180											
RASGRP4	115727	broad.mit.edu	37	chr19	38909096	38909096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcccgggacggctcagcaCcatcacctgcacccagcggg	7	3	14	17	3	2	0	2	0	0	0	2	1	2	1	4	4	3	3	4	4	0	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:38909096C>G	uc021uub.1	-	6	986	c.772G>C	c.(772-774)Gtg>Ctg	p.V258L	RASGRP4_uc010efz.2_Non-coding_Transcript|RASGRP4_uc010ega.2_Non-coding_Transcript|RASGRP4_uc021utz.1_Missense_Mutation_p.V258L|RASGRP4_uc021uua.1_Missense_Mutation_p.V224L|RASGRP4_uc021uuc.1_Missense_Mutation_p.V258L|RASGRP4_uc021uud.1_Intron|RASGRP4_uc021uue.1_Intron|RASGRP4_uc021uuf.1_Missense_Mutation_p.V244L	NM_170604	NP_733749	Q8TDF6	GRP4_HUMAN	Homo sapiens RAS guanyl releasing protein 4 (RASGRP4), transcript variant a, mRNA.	258	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CGGCTCAGCACCATCACCTGC	0.662													G	38909096	C	G	38909096	3	3	273	1	0	0	0	0	1	0	0	0	13165	507	18	4	1293	4	RASGRP4	19	38909096	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	21908254	38909096	20219887	69	19181											
SIGLEC10	89790	broad.mit.edu	37	chr19	51919569	51919569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggccctcagtacctggcGtgttgtcacgtgaaatgctg	7	10	13	11	3	2	1	2	1	0	0	2	2	2	1	2	2	2	3	2	2	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:51919569G>A	uc002pwo.3	-	3	971	c.749C>T	c.(748-750)aCg>aTg	p.T250M	SIGLEC10_uc002pwp.3_Missense_Mutation_p.T192M|SIGLEC10_uc021uyl.1_Missense_Mutation_p.T167M|SIGLEC10_uc002pwq.3_Missense_Mutation_p.T192M|SIGLEC10_uc010ycz.2_Missense_Mutation_p.T202M|SIGLEC10_uc002pws.2_Missense_Mutation_p.T192M|SIGLEC10_uc002pwr.3_Missense_Mutation_p.T250M|SIGLEC10_uc010ycy.2_Missense_Mutation_p.T250M|SIGLEC10_uc010eow.3_Missense_Mutation_p.R15C|LOC100129083_uc021uym.1_Intron	NM_033130	NP_149121	Q96LC7	SIG10_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 10 (SIGLEC10), transcript variant 1, mRNA.	250					cell adhesion	extracellular region|integral to membrane|plasma membrane	sugar binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(27)|ovary(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000668)|OV - Ovarian serous cystadenocarcinoma(262;0.0101)		AGTACCTGGCGTGTTGTCACG	0.547													A	51919569	G	A	51919569	3	1	273	1	0	0	0	0	1	0	0	0	14400	1145	40	1	1376	1	SIGLEC10	19	51919569	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	13010473	51919569	7209414	70	19182											
ZSCAN1	284312	broad.mit.edu	37	chr19	58564824	58564824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgcttgcctctgaagcCgagtatctgggacgagcctg	6	8	14	13	3	2	1	0	1	2	0	2	4	2	2	4	2	3	2	4	2	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr19:58564824C>T	uc002qrc.1	+	5	879	c.632C>T	c.(631-633)cCg>cTg	p.P211L		NM_182572	NP_872378	Q8NBB4	ZSCA1_HUMAN	Homo sapiens zinc finger and SCAN domain containing 1 (ZSCAN1), mRNA.	211					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CCTCTGAAGCCGAGTATCTGG	0.652													T	58564824	C	T	58564824	3	4	273	1	0	0	0	0	1	0	0	0	18325	652	23	1	646	1	ZSCAN1	19	58564824	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	6645255	58564824	564159	71	19183											
ZNF831	128611	broad.mit.edu	37	chr20	57768855	57768855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccacctcaggctcctagAgtgctctctgccctggcaga	7	8	9	17	0	2	2	1	0	1	2	4	2	3	2	5	2	2	3	5	2	1	1			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:57768855A>C	uc002yan.3	+	0	2781	c.2781A>C	c.(2779-2781)agA>agC	p.R927S		NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN	Homo sapiens zinc finger protein 831 (ZNF831), mRNA.	927						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGCTCCTAGAGTGCTCTCTG	0.632													C	57768855	A	C	57768855	3	2	273	1	0	0	0	0	1	0	0	0	18284	301	11	5	2783	5	ZNF831	20	57768855	Missense_Mutation	SNP	A	TCGA-76-6286-01A-11D-1845-08		57768855	5256665	72	19184											
CDH4	1002	broad.mit.edu	37	chr20	60503346	60503346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaggaggcgcagatctgcGagaagcccaacctgaacgcc	12	3	12	14	3	1	3	0	1	1	2	1	5	1	4	4	2	4	1	4	2	4	0			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60503346G>A	uc002ybn.2	+	11	1958	c.1870G>A	c.(1870-1872)Gag>Aag	p.E624K	CDH4_uc002ybr.2_Missense_Mutation_p.E587K|CDH4_uc002ybp.2_Missense_Mutation_p.E550K	NM_001794	NP_001785	P55283	CADH4_HUMAN	Homo sapiens cadherin 4, type 1, R-cadherin (retinal) (CDH4), transcript variant 1, mRNA.	624	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding	p.C623C(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCAGATCTGCGAGAAGCCCAA	0.642													A	60503346	G	A	60503346	3	1	273	1	0	0	0	0	1	0	0	0	3142	1059	37	1	1916	1	CDH4	20	60503346	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	2734491	60503346	2522174	73	19185											
HRH3	11255	broad.mit.edu	37	chr20	60793588	60793588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcgtagctgatgagcaCgatgttgaaggcagaggagg	10	7	18	6	3	0	4	0	3	0	1	1	6	0	5	0	4	2	5	0	4	2	2	rs142903103		TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr20:60793588C>T	uc002yci.3	-	1	673	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	HRH3_uc002ycf.2_Missense_Mutation_p.V126M|HRH3_uc002ych.3_Missense_Mutation_p.V126M|HRH3_uc002ycg.3_Missense_Mutation_p.V126M	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	126					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CTGATGAGCACGATGTTGAAG	0.647													T	60793588	C	T	60793588	3	4	273	1	0	0	0	0	1	0	0	0	7412	536	19	1	969	1	HRH3	20	60793588	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	290242	60793588	2231932	74	19186											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768677	31768677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccttgctctgcagtccCtgccagacaacttactctgg	7	11	7	16	0	2	1	0	0	2	1	4	1	4	1	4	1	5	2	4	1	2	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:31768677C>T	uc002yoa.3	+	0	286	c.273C>T	c.(271-273)ccC>ccT	p.P91P		NM_181599	NP_853630	Q8IUC0	KR131_HUMAN	Homo sapiens keratin associated protein 13-1 (KRTAP13-1), mRNA.	91	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTGCAGTCCCTGCCAGACAA	0.612													T	31768677	C	T	31768677	2	4	273	1	0	0	0	0	0	0	0	1	8580	668	24	2		2	KRTAP13-1	21	31768677	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08		31768677	16361218	75	19187											
FAM3B	54097	broad.mit.edu	37	chr21	42720528	42720528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcagactgaataaCgatgccaagaatgccataga	14	9	9	9	1	0	4	0	1	0	3	1	5	1	4	3	0	4	1	3	0	5	3			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chr21:42720528C>T	uc002yzb.1	+	6	641	c.495C>T	c.(493-495)aaC>aaT	p.N165N	FAM3B_uc002yza.2_Non-coding_Transcript|FAM3B_uc002yzc.1_Silent_p.N117N	NM_058186	NP_478066	P58499	FAM3B_HUMAN	Homo sapiens family with sequence similarity 3, member B (FAM3B), transcript variant 1, mRNA.	165					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GACTGAATAACGATGCCAAGA	0.463													T	42720528	C	T	42720528	2	4	273	1	0	0	0	0	0	0	0	1	5608	535	19	1		1	FAM3B	21	42720528	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	10951851	42720528	5409367	76	19188											
MSL3	10943	broad.mit.edu	37	chrX	11790368	11790371	+	Frame_Shift_Del	DEL	TTGT	TTGT	-																															gggcacaacatttgctgcgaTtgtttggtaagaatcctggt																										TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:11790368_11790371delTTGT	uc004cuw.3	+	10	1480_1483	c.1375_1378delTTGT	c.(1375-1380)ttgtttfs	p.L459fs	MSL3_uc011mig.2_Frame_Shift_Del_p.L310fs|MSL3_uc011mih.2_Frame_Shift_Del_p.L447fs|MSL3_uc004cuy.3_Frame_Shift_Del_p.L293fs	NM_078629	NP_006791	Q8N5Y2	MS3L1_HUMAN	Homo sapiens male-specific lethal 3 homolog (Drosophila) (MSL3), transcript variant 1, mRNA.	459					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TTTGCTGCGATTGTTTGGTAAGAA	0.451													-	11790371	TTGT	-	11790368	7	5	273	1	0	1	0	1	0	0	0	0	9955	1490	52	0	1497	0	MSL3	23	11790368	Frame_Shift_Del	DEL	TTGT	TCGA-76-6286-01A-11D-1845-08		11790368	143480192	77	19189											
KCND1	3750	broad.mit.edu	37	chrX	48819889	48819889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggaagaggcaaggggtacCcaggctggagttcctgaggg	9	5	20	7	0	0	2	0	1	0	1	1	4	1	4	2	8	1	4	2	8	3	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:48819889C>T	uc004dlx.1	-	5	3470	c.1897G>A	c.(1897-1899)Ggt>Agt	p.G633S	KCND1_uc004dlw.1_Missense_Mutation_p.G256S	NM_004979	NP_004970	Q9NSA2	KCND1_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 1 (KCND1), mRNA.	633						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CAAGGGGTACCCAGGCTGGAG	0.612													T	48819889	C	T	48819889	3	4	273	1	0	0	0	0	1	0	0	0	8076	623	22	2	50	2	KCND1	23	48819889	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	37029521	48819889	106450671	78	19190											
VSIG4	11326	broad.mit.edu	37	chrX	65242302	65242302	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgcgaagatggccacccTcatggtttctccagagtcgt	8	11	10	12	2	2	2	1	0	1	2	4	3	2	2	3	2	1	1	3	2	1	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:65242302T>C	uc004dwh.2	-	7	1130	c.1003A>G	c.(1003-1005)Agg>Ggg	p.R335G	VSIG4_uc004dwi.2_Missense_Mutation_p.R241G|VSIG4_uc004dwj.3_3'UTR|VSIG4_uc011moy.2_3'UTR	NM_007268	NP_009199	Q9Y279	VSIG4_HUMAN	Homo sapiens V-set and immunoglobulin domain containing 4 (VSIG4), transcript variant 1, mRNA.	335					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGGCCACCCTCATGGTTTCT	0.567													C	65242302	T	C	65242302	3	2	273	1	0	0	0	0	1	0	0	0	17327	1550	54	3	200	3	VSIG4	23	65242302	Missense_Mutation	SNP	T	TCGA-76-6286-01A-11D-1845-08	16422413	65242302	90028258	79	19191											
USP26	83844	broad.mit.edu	37	chrX	132161219	132161219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttaaaaaaaagtagccGtgccaagcacatggtaagag	17	8	9	7	1	1	1	0	0	1	1	1	1	1	1	2	1	3	3	2	1	7	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:132161219G>A	uc011mvf.2	-	0	1082	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	USP26_uc010nrm.1_Missense_Mutation_p.R344W	NM_031907	NP_114113	Q9BXU7	UBP26_HUMAN	Homo sapiens ubiquitin specific peptidase 26 (USP26), mRNA.	344					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAAGTAGCCGTGCCAAGCAC	0.378													A	132161219	G	A	132161219	3	1	273	1	0	0	0	0	1	0	0	0	17159	1144	40	1	1714	1	USP26	23	132161219	Missense_Mutation	SNP	G	TCGA-76-6286-01A-11D-1845-08	66918917	132161219	23109341	80	19192											
AFF2	2334	broad.mit.edu	37	chrX	147924922	147924922	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtggaatgacccaacCaccagagcttctacaaagtc	14	7	8	12	0	2	3	1	1	1	2	3	4	2	4	3	1	3	1	3	1	4	2			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:147924922C>A	uc004fcp.3	+	6	1706	c.1227C>A	c.(1225-1227)acC>acA	p.T409T	AFF2_uc004fco.3_Silent_p.T376T|AFF2_uc004fcq.3_Silent_p.T405T|AFF2_uc004fcr.3_Silent_p.T376T|AFF2_uc011mxb.2_Silent_p.T380T|AFF2_uc004fcs.3_Silent_p.T376T|AFF2_uc011mxc.2_Silent_p.T50T	NM_002025	NP_002016	P51816	AFF2_HUMAN	Homo sapiens AF4/FMR2 family, member 2 (AFF2), transcript variant 1, mRNA.	409					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					ATGACCCAACCACCAGAGCTT	0.378													A	147924922	C	A	147924922	2	1	273	1	0	0	0	0	0	0	0	1	357	581	21	4		4	AFF2	23	147924922	Silent	SNP	C	TCGA-76-6286-01A-11D-1845-08	15763703	147924922	7345638	81	19193											
FLNA	2316	broad.mit.edu	37	chrX	153588445	153588445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggggaagttgggcaCgggctggccgccgtacttga	5	9	17	10	3	0	1	0	1	0	0	0	2	0	2	2	5	2	5	2	5	2	4			TCGA-76-6286-01A-11D-1845-08	TCGA-76-6286-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45d03116-6cff-4074-9c26-2e5f1a8854d3	2159e2bc-ad84-4c6f-a4b9-d8f27800b900	g.chrX:153588445C>T	uc004fkk.2	-	21	3967	c.3718G>A	c.(3718-3720)Gtg>Atg	p.V1240M	FLNA_uc011mzn.1_5'Flank|FLNA_uc010nuu.1_Missense_Mutation_p.V1240M	NM_001110556	NP_001104026	P21333	FLNA_HUMAN	Homo sapiens filamin A, alpha (FLNA), transcript variant 2, mRNA.	1240					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGTTGGGCACGGGCTGGCCG	0.627													T	153588445	C	T	153588445	3	4	273	1	0	0	0	0	1	0	0	0	5982	536	19	1	4333	1	FLNA	23	153588445	Missense_Mutation	SNP	C	TCGA-76-6286-01A-11D-1845-08	5663523	153588445	1682115	82	19194											
CDA	978	broad.mit.edu	37	chr1	20944980	20944980	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtacatgaccaagccGgatggtacgtatattgtcat	10	11	10	10	3	1	1	1	1	0	0	1	2	1	2	3	2	3	3	3	2	5	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:20944980G>A	uc001bdk.3	+	3	539	c.360G>A	c.(358-360)ccG>ccA	p.P120P	CDA_uc001bdl.3_Non-coding_Transcript|CDA_uc009vpv.3_Non-coding_Transcript	NM_001785	NP_001776	P32320	CDD_HUMAN	Homo sapiens cytidine deaminase (CDA), mRNA.	120					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	TGACCAAGCCGGATGGTACGT	0.587													A	20944980	G	A	20944980	2	1	274	1	0	0	0	0	0	0	0	1	3082	1103	39	1		1	CDA	1	20944980	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		20944980	228305641	1	19195											
GRIK3	2899	broad.mit.edu	37	chr1	37356675	37356675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacctgggcgttggggccGtccgcatactcgaagattcc	7	9	13	12	4	0	2	0	1	0	1	3	3	2	2	4	3	1	2	4	3	2	3	rs150456185		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:37356675G>A	uc001caz.2	-	1	273	c.138C>T	c.(136-138)gaC>gaT	p.D46D	GRIK3_uc001cba.1_Silent_p.D46D	NM_000831	NP_000822	Q13003	GRIK3_HUMAN	Homo sapiens glutamate receptor, ionotropic, kainate 3 (GRIK3), mRNA.	46					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	CGTTGGGGCCGTCCGCATACT	0.507													A	37356675	G	A	37356675	2	1	274	1	0	0	0	0	0	0	0	1	6830	1136	40	1		1	GRIK3	1	37356675	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	16411695	37356675	211893946	2	19196											
PTPRF	5792	broad.mit.edu	37	chr1	44086251	44086251	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaaggtcacggatgcccggGtgagtgagtgcattgagtgt	8	10	16	7	2	2	3	2	3	0	0	2	4	2	4	1	3	2	1	1	3	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:44086251G>A	uc001cjr.3	+	31	5704	c.5364_splice	c.e31+1	p.R1788_splice	PTPRF_uc001cjs.3_Splice_Site_p.R1779_splice|PTPRF_uc001cju.3_Splice_Site_p.R1177_splice|PTPRF_uc009vwt.3_Splice_Site_p.R1348_splice|PTPRF_uc001cjv.3_Splice_Site_p.R1259_splice|PTPRF_uc001cjw.3_Splice_Site_p.R1014_splice	NM_002840	NP_002831	P10586	PTPRF_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, F (PTPRF), transcript variant 1, mRNA.	1788	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GGATGCCCGGGTGAGTGAGTG	0.547													A	44086251	G	A	44086251	5	1	274	1	0	0	0	0	0	0	1	0	12889	1275	44	2	5479	2	PTPRF	1	44086251	Splice_Site	SNP	G	TCGA-76-6656-01A-11D-1845-08	6729576	44086251	205164370	3	19197											
NEGR1	257194	broad.mit.edu	37	chr1	72058647	72058647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattccttgttggccattgaAgagcctagaagacaaaataa	16	10	8	7	0	0	4	0	1	0	3	1	4	1	4	3	1	1	1	3	1	7	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:72058647A>G	uc001dfw.3	-	5	1021	c.793T>C	c.(793-795)Ttc>Ctc	p.F265L	NEGR1_uc001dfv.3_Missense_Mutation_p.F137L|NEGR1_uc010oqs.2_Missense_Mutation_p.F221L	NM_173808	NP_776169	Q7Z3B1	NEGR1_HUMAN	Homo sapiens neuronal growth regulator 1 (NEGR1), mRNA.	265	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		TGGCCATTGAAGAGCCTAGAA	0.373													G	72058647	A	G	72058647	3	3	274	1	0	0	0	0	1	0	0	0	10393	72	3	3	279	3	NEGR1	1	72058647	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	27972396	72058647	177191974	4	19198											
COL24A1	255631	broad.mit.edu	37	chr1	86282552	86282552	+	Frame_Shift_Del	DEL	T	T	-																															ccatggtatccttgtatgccTtttggcccaagtaggccttg																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:86282552delT	uc001dlj.3	-	46	3945	c.3870delA	c.(3868-3870)aaafs	p.K1290fs	COL24A1_uc001dli.3_Frame_Shift_Del_p.K426fs|COL24A1_uc010osf.2_Non-coding_Transcript|COL24A1_uc010osd.2_Frame_Shift_Del_p.K590fs|COL24A1_uc001dlk.3_Non-coding_Transcript|COL24A1_uc010ose.2_Non-coding_Transcript	NM_152890	NP_690850	Q17RW2	COOA1_HUMAN	Homo sapiens collagen, type XXIV, alpha 1 (COL24A1), mRNA.	1290	Collagen-like 14.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CTTGTATGCCTTTTGGCCCAA	0.388													-	86282552	T	-	86282552	7	5	274	1	0	1	0	1	0	0	0	0	3714	1606	56	0	1330	0	COL24A1	1	86282552	Frame_Shift_Del	DEL	T	TCGA-76-6656-01A-11D-1845-08	14223905	86282552	162968069	5	19199											
HFM1	164045	broad.mit.edu	37	chr1	91740328	91740328	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttttggagtaaaaccaaaCtctttaaggtccacactttg	12	13	8	8	0	1	0	0	0	1	0	2	1	2	1	2	3	2	2	2	3	4	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:91740328C>T	uc001doa.4	-	32	3726	c.3627G>A	c.(3625-3627)gaG>gaA	p.E1209E	HFM1_uc009wdb.3_Non-coding_Transcript|HFM1_uc010osu.2_Silent_p.E888E|HFM1_uc001dob.4_Silent_p.E397E|HFM1_uc010osv.1_Silent_p.E893E	NM_001017975	NP_001017975	A2PYH4	HFM1_HUMAN	Homo sapiens HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae) (HFM1), mRNA.	1209							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TAAAACCAAACTCTTTAAGGT	0.299													T	91740328	C	T	91740328	2	4	274	1	0	0	0	0	0	0	0	1	7138	564	20	2		2	HFM1	1	91740328	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	5457776	91740328	157510293	6	19200											
FAM102B	284611	broad.mit.edu	37	chr1	109167309	109167309	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaattgctggtgaatcTgaatctttgcaagaagatag	14	12	9	6	0	2	4	0	2	2	2	2	4	2	4	1	1	3	2	1	1	7	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:109167309T>C	uc010ouy.2	+	5	575	c.495T>C	c.(493-495)tcT>tcC	p.S165S		NM_001010883	NP_001010883	Q5T8I3	F102B_HUMAN	Homo sapiens family with sequence similarity 102, member B (FAM102B), mRNA.	165										autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		CTGGTGAATCTGAATCTTTGC	0.403													C	109167309	T	C	109167309	2	2	274	1	0	0	0	0	0	0	0	1	5428	1567	55	3		3	FAM102B	1	109167309	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	17426981	109167309	140083312	7	19201											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccgtag																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152128277_152128280delTGTC	uc001ezs.1	-	2	1360_1363	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.R432fs		NM_001122965	NP_001116437	Q6XPR3	RPTN_HUMAN	Homo sapiens repetin (RPTN), mRNA.	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(2)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													-	152128280	TGTC	-	152128277	7	5	274	1	0	1	0	1	0	0	0	0	13755	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-76-6656-01A-11D-1845-08	42960968	152128277	97122344	8	19202											
FLG	2312	broad.mit.edu	37	chr1	152282565	152282565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgagtgtccctcactGtccctgtcctgactaacact	6	14	6	15	0	3	2	1	2	2	0	6	2	6	2	3	0	1	0	3	0	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:152282565G>C	uc001ezu.1	-	2	4833	c.4797C>G	c.(4795-4797)gaC>gaG	p.D1599E		NM_002016	NP_002007	P20930	FILA_HUMAN	Homo sapiens filaggrin (FLG), mRNA.	1599	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCTCACTGTCCCTGTCCT	0.592									Ichthyosis				C	152282565	G	C	152282565	3	2	274	1	0	0	0	0	1	0	0	0	5971	1368	48	4	7392	4	FLG	1	152282565	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	154288	152282565	96968056	9	19203											
HDGF	3068	broad.mit.edu	37	chr1	156713958	156713958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggcagcagttacctcCagcaagtcccctgctctcct	7	8	10	16	0	1	0	0	0	1	0	4	0	3	0	5	2	4	6	5	2	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:156713958C>T	uc001fpy.4	-	3	808	c.486G>A	c.(484-486)ctG>ctA	p.L162L	HDGF_uc009wsd.3_Silent_p.L130L|HDGF_uc001fpz.4_Silent_p.L155L|HDGF_uc009wse.3_Silent_p.L178L|HDGF_uc010phr.2_Silent_p.L185L|HDGF_uc009wsf.3_Silent_p.L130L	NM_004494	NP_004485	P51858	HDGF_HUMAN	Homo sapiens hepatoma-derived growth factor (HDGF), transcript variant 1, mRNA.	162	Glu-rich.				cell proliferation|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	DNA binding|growth factor activity|heparin binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		CAGTTACCTCCAGCAAGTCCC	0.612													T	156713958	C	T	156713958	2	4	274	1	0	0	0	0	0	0	0	1	7073	581	21	2		2	HDGF	1	156713958	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	4431393	156713958	92536663	10	19204											
PTGS2	5743	broad.mit.edu	37	chr1	186645642	186645642	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaacaactgctcatcaccCcattcaggatgctcctgttt	9	12	7	13	0	3	0	3	0	0	0	4	2	4	2	3	2	4	3	3	2	2	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:186645642C>T	uc001gsb.3	-	6	1064	c.927G>A	c.(925-927)tgG>tgA	p.W309*	PTGS2_uc009wyo.3_Nonsense_Mutation_p.W156*	NM_000963	NP_000954	P35354	PGH2_HUMAN	Homo sapiens prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) (PTGS2), mRNA.	309					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GCTCATCACCCCATTCAGGAT	0.448													T	186645642	C	T	186645642	4	4	274	1	0	0	0	0	0	1	0	0	12842	624	22	2	903	2	PTGS2	1	186645642	Nonsense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	29931684	186645642	62604979	11	19205											
OR6F1	343169	broad.mit.edu	37	chr1	247875393	247875393	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcctgaggatggtgctgAtgatgtacacataggagaca	12	9	14	6	0	0	4	0	3	0	1	1	7	1	6	1	4	2	2	1	4	2	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr1:247875393A>C	uc001idj.1	-	0	665	c.665T>G	c.(664-666)aTc>aGc	p.I222S		NM_001005286	NP_001005286	Q8NGZ6	OR6F1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily F, member 1 (OR6F1), mRNA.	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GATGGTGCTGATGATGTACAC	0.532													C	247875393	A	C	247875393	3	2	274	1	0	0	0	0	1	0	0	0	11277	333	12	5	265	5	OR6F1	1	247875393	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	61229751	247875393	1375228	12	19206											
C2orf89	129293	broad.mit.edu	37	chr2	85051303	85051303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggacagagtgggccGtgtggaggtctttttactct	6	13	16	6	1	2	1	0	0	2	1	2	4	2	3	1	5	1	0	1	5	1	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:85051303G>A	uc010ysl.2	-	5	1197	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W	C2orf89_uc002sou.4_Missense_Mutation_p.R321W	NM_001080824	NP_001074293	Q86V40	CB089_HUMAN	Homo sapiens chromosome 2 open reading frame 89 (C2orf89), mRNA.	370						integral to membrane				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(3)	18						AGAGTGGGCCGTGTGGAGGTC	0.567													A	85051303	G	A	85051303	3	1	274	1	0	0	0	0	1	0	0	0	2224	1144	40	1	417	1	C2orf89	2	85051303	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		85051303	158148070	13	19207											
MYO7B	4648	broad.mit.edu	37	chr2	128384614	128384614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtggacgccgcccGcctgcagtggccgctgctct	3	7	16	15	4	1	0	0	0	1	0	1	1	1	1	4	4	2	4	4	4	0	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:128384614G>A	uc002top.3	+	30	4255	c.4202G>A	c.(4201-4203)cGc>cAc	p.R1401H	MYO7B_uc002toq.1_Missense_Mutation_p.R254H|MYO7B_uc002tor.1_Missense_Mutation_p.R254H	NM_001080527	NP_001073996	Q6PIF6	MYO7B_HUMAN	Homo sapiens myosin VIIB (MYO7B), mRNA.	1401	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GACGCCGCCCGCCTGCAGTGG	0.637													A	128384614	G	A	128384614	3	1	274	1	0	0	0	0	1	0	0	0	10159	1087	38	1	4320	1	MYO7B	2	128384614	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	43333311	128384614	114814759	14	19208											
YSK4	80122	broad.mit.edu	37	chr2	135738842	135738842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacaccatctcaggcaatgGcccaaaacggtttataatac	15	8	7	11	1	1	0	1	0	1	0	2	1	1	0	2	3	3	2	2	3	7	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:135738842G>A	uc002tue.1	-	8	3500	c.3469C>T	c.(3469-3471)Cca>Tca	p.P1157S	YSK4_uc002tuf.1_Missense_Mutation_p.P339S|YSK4_uc010fnc.1_Missense_Mutation_p.P291S|YSK4_uc010fnd.1_Missense_Mutation_p.P1044S|YSK4_uc010zbg.1_Missense_Mutation_p.P289S|YSK4_uc021vpz.1_Missense_Mutation_p.P18S|YSK4_uc002tuh.4_Missense_Mutation_p.P885S|YSK4_uc002tui.4_3'UTR	NM_025052	NP_079328	Q56UN5	YSK4_HUMAN	Homo sapiens YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae) (YSK4), transcript variant 1, mRNA.	1157	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(221;0.112)		TCAGGCAATGGCCCAAAACGG	0.418													A	135738842	G	A	135738842	3	1	274	1	0	0	0	0	1	0	0	0	17597	1203	42	2	525	2	YSK4	2	135738842	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	7354228	135738842	107460531	15	19209											
FMNL2	114793	broad.mit.edu	37	chr2	153463859	153463859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgtttcaggtttgtGgagaaaaacagcgctttgag	11	13	13	4	1	1	2	1	1	0	1	1	3	1	2	0	2	2	3	0	2	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:153463859G>A	uc002tye.3	+	9	1250	c.883G>A	c.(883-885)Gga>Aga	p.G295R		NM_052905	NP_443137	Q96PY5	FMNL2_HUMAN	Homo sapiens formin-like 2 (FMNL2), mRNA.	295	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						TCAGGTTTGTGGAGAAAAACA	0.313													A	153463859	G	A	153463859	3	1	274	1	0	0	0	0	1	0	0	0	6001	1349	47	2	921	2	FMNL2	2	153463859	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	17725017	153463859	89735514	16	19210											
LOC200726	200726	broad.mit.edu	37	chr2	207509344	207509344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagagaaaatctcagcagcGcagccacagcacacaaggag	17	2	11	11	1	1	1	1	0	1	1	2	4	1	2	1	1	4	3	1	1	4	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr2:207509344G>A	uc010fuh.1	+	1	559	c.384G>A	c.(382-384)gcG>gcA	p.A128A		NM_001102659	NP_001096129			Homo sapiens hCG1657980 (LOC200726), mRNA.																LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.115)|Lung(261;0.133)		TCTCAGCAGCGCAGCCACAGC	0.488													A	207509344	G	A	207509344	2	1	274	1	0	0	0	0	0	0	0	1	8936	1074	38	1		1	LOC200726	2	207509344	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	54045485	207509344	35690029	17	19211											
DNAH12	201625	broad.mit.edu	37	chr3	57493504	57493504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcattatcttctcttctgCgtttctagtttgtattgata	7	22	5	7	1	5	1	1	1	4	0	6	1	5	1	0	0	1	3	0	0	4	10			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:57493504C>A	uc003dit.2	-	7	944	c.763G>T	c.(763-765)Gca>Tca	p.A255S	DNAH12_uc003diu.2_Missense_Mutation_p.A255S	NM_178504	NP_848599	Q6ZR08	DYH12_HUMAN	Homo sapiens dynein, axonemal, heavy chain 12 (DNAH12), transcript variant 1, mRNA.	255	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCTCTTCTGCGTTTCTAGTT	0.333													A	57493504	C	A	57493504	3	1	274	1	0	0	0	0	1	0	0	0	4639	768	27	4	8766	4	DNAH12	3	57493504	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		57493504	140528926	18	19212											
SEMA5B	54437	broad.mit.edu	37	chr3	122632727	122632727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcccggctcttgcccaCgcagatgcggcccccgtggc	3	8	11	19	4	1	1	0	0	1	1	3	1	3	1	5	3	2	2	5	3	0	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:122632727C>T	uc003efz.1	-	14	2414	c.2110G>A	c.(2110-2112)Gtg>Atg	p.V704M	SEMA5B_uc011bju.1_Missense_Mutation_p.V646M|SEMA5B_uc003ega.1_Non-coding_Transcript|SEMA5B_uc003egb.1_Missense_Mutation_p.V704M|SEMA5B_uc010hro.1_Missense_Mutation_p.V646M|SEMA5B_uc003efy.1_5'Flank	NM_001031702	NP_001026872	Q9P283	SEM5B_HUMAN	Homo sapiens sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B (SEMA5B), transcript variant 1, mRNA.	704	TSP type-1 1.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		CTCTTGCCCACGCAGATGCGG	0.657													T	122632727	C	T	122632727	3	4	274	1	0	0	0	0	1	0	0	0	14131	536	19	1	1381	1	SEMA5B	3	122632727	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	65139223	122632727	75389703	19	19213											
RTP1	132112	broad.mit.edu	37	chr3	186917605	186917605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcatccacgtggccagccGccaggacaaccggcggcacc	8	2	12	19	5	0	0	0	0	0	0	1	1	1	1	7	4	2	2	7	4	1	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr3:186917605G>A	uc003frg.3	+	1	569	c.539G>A	c.(538-540)cGc>cAc	p.R180H		NM_153708	NP_714919	P59025	RTP1_HUMAN	Homo sapiens receptor (chemosensory) transporter protein 1 (RTP1), mRNA.	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GTGGCCAGCCGCCAGGACAAC	0.682													A	186917605	G	A	186917605	3	1	274	1	0	0	0	0	1	0	0	0	13824	1087	38	1	545	1	RTP1	3	186917605	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	64284878	186917605	11104825	20	19214											
CCDC149	91050	broad.mit.edu	37	chr4	24878210	24878210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggcgctcccggagctgaTtggccatgagtttgtactgg	5	11	16	9	2	0	2	0	2	0	0	1	3	1	3	2	5	2	4	2	5	1	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:24878210T>C	uc003grc.3	-	1	272	c.173A>G	c.(172-174)aAt>aGt	p.N58S	CCDC149_uc003grd.3_Missense_Mutation_p.N58S|CCDC149_uc011bxr.2_Missense_Mutation_p.N58S|CCDC149_uc003gre.3_Missense_Mutation_p.N3S	NM_001130726	NP_001124198	B4DZG3	B4DZG3_HUMAN	Homo sapiens coiled-coil domain containing 149 (CCDC149), transcript variant 2, mRNA.	58										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCGGAGCTGATTGGCCATGAG	0.517													C	24878210	T	C	24878210	3	2	274	1	0	0	0	0	1	0	0	0	2809	1493	52	3	1464	3	CCDC149	4	24878210	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		24878210	166276066	21	19215											
EPHA5	2044	broad.mit.edu	37	chr4	66217156	66217156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttccagtacccgggaaagtCcaaagtcagacactttgcac	12	8	8	13	1	1	1	1	0	0	1	3	2	3	2	3	1	2	2	3	1	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:66217156C>A	uc003hcy.3	-	13	2652	c.2459G>T	c.(2458-2460)gGa>gTa	p.G820V	EPHA5_uc003hcx.3_Missense_Mutation_p.G752V|EPHA5_uc003hcz.3_Missense_Mutation_p.G798V|EPHA5_uc011cah.2_Missense_Mutation_p.G821V|EPHA5_uc011cai.2_Missense_Mutation_p.G799V|EPHA5_uc003hda.2_Missense_Mutation_p.G821V	NM_004439	NP_004430	P54756	EPHA5_HUMAN	Homo sapiens EPH receptor A5 (EPHA5), transcript variant 1, mRNA.	820	Protein kinase.			G -> E (in Ref. 3; CAD97914).	cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCGGGAAAGTCCAAAGTCAGA	0.443										TSP Lung(17;0.13)			A	66217156	C	A	66217156	3	1	274	1	0	0	0	0	1	0	0	0	5211	855	30	4	674	4	EPHA5	4	66217156	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	41338946	66217156	124937120	22	19216											
GK2	2712	broad.mit.edu	37	chr4	80328891	80328891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacattgtcaagcatccaaCgaagttttactgcactgaag	13	11	7	10	1	2	1	2	1	0	0	3	2	3	1	1	0	4	3	1	0	5	3	rs147498656	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:80328891C>A	uc003hlu.3	-	0	482	c.464G>T	c.(463-465)cGt>cTt	p.R155L		NM_033214	NP_149991	Q14410	GLPK2_HUMAN	Homo sapiens glycerol kinase 2 (GK2), mRNA.	155					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAGCATCCAACGAAGTTTTAC	0.408													A	80328891	C	A	80328891	3	1	274	1	0	0	0	0	1	0	0	0	6477	536	19	4	1201	4	GK2	4	80328891	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	14111735	80328891	110825385	23	19217											
SPARCL1	8404	broad.mit.edu	37	chr4	88414795	88414795	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatgtactttttctcttTgctcctcaattttgaggtga	6	21	6	8	0	3	2	2	2	1	0	5	2	4	2	1	1	2	2	1	1	2	7			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:88414795T>C	uc010ikm.3	-	4	1729	c.1157A>G	c.(1156-1158)cAa>cGa	p.Q386R	SPARCL1_uc011cdc.2_Missense_Mutation_p.Q261R|SPARCL1_uc003hqs.4_Missense_Mutation_p.Q386R|SPARCL1_uc011cdd.2_Missense_Mutation_p.Q261R	NM_001128310	NP_004675	Q14515	SPRL1_HUMAN	Homo sapiens SPARC-like 1 (hevin) (SPARCL1), transcript variant 1, mRNA.	386					signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTTTTCTCTTTGCTCCTCAAT	0.443													C	88414795	T	C	88414795	3	2	274	1	0	0	0	0	1	0	0	0	15092	1812	63	3	869	3	SPARCL1	4	88414795	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	8085904	88414795	102739481	24	19218											
FAM198B	51313	broad.mit.edu	37	chr4	159052126	159052126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcttccttgcgaggTctgaatccacagcaatttgt	9	12	9	11	1	2	1	0	1	2	0	4	2	4	1	2	2	2	2	2	2	2	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr4:159052126T>C	uc003ipq.4	-	4	1595	c.1188A>G	c.(1186-1188)agA>agG	p.R396R	FAM198B_uc003ipp.4_Silent_p.R388R|FAM198B_uc003ipr.4_Silent_p.R388R	NM_001031700	NP_001026870	Q6UWH4	F198B_HUMAN	Homo sapiens family with sequence similarity 198, member B (FAM198B), transcript variant 1, mRNA.	388						Golgi membrane|integral to membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						CCTTGCGAGGTCTGAATCCAC	0.413													C	159052126	T	C	159052126	2	2	274	1	0	0	0	0	0	0	0	1	5576	1664	58	3		3	FAM198B	4	159052126	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	70637331	159052126	32102150	25	19219											
AHRR	57491	broad.mit.edu	37	chr5	428029	428029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctgcattgcggcaccCgttctcctcccctccgcagc	3	11	8	19	3	2	0	0	0	2	0	5	0	4	0	5	1	3	5	5	1	0	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:428029C>T	uc003jav.3	+	8	925	c.882C>T	c.(880-882)ccC>ccT	p.P294P	AHRR_uc003jaw.3_Silent_p.P276P|AHRR_uc010isy.3_Silent_p.P122P|AHRR_uc010isz.3_Silent_p.P272P|AHRR_uc003jax.3_Silent_p.P35P|AHRR_uc003jay.3_Silent_p.P132P	NM_020731	NP_065782	A9YTQ3	AHRR_HUMAN	Homo sapiens aryl-hydrocarbon receptor repressor (AHRR), transcript variant 1, mRNA.	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCGGCACCCGTTCTCCTCC	0.577													T	428029	C	T	428029	2	4	274	1	0	0	0	0	0	0	0	1	417	639	23	1		1	AHRR	5	428029	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08		428029	180487231	26	19220											
SLC6A19	340024	broad.mit.edu	37	chr5	1216774	1216774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcattgggttccgcgccaCacagcgctacgacgactgct	7	8	11	15	6	1	0	1	0	0	0	2	2	2	0	2	1	3	3	2	1	1	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:1216774C>T	uc003jbw.4	+	6	1045	c.989C>T	c.(988-990)aCa>aTa	p.T330I		NM_001003841	NP_001003841	Q695T7	S6A19_HUMAN	Homo sapiens solute carrier family 6 (neutral amino acid transporter), member 19 (SLC6A19), mRNA.	330					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A329T(2)|p.T330T(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TTCCGCGCCACACAGCGCTAC	0.607													T	1216774	C	T	1216774	3	4	274	1	0	0	0	0	1	0	0	0	14776	478	17	2	1015	2	SLC6A19	5	1216774	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	788745	1216774	179698486	27	19221											
GZMK	3003	broad.mit.edu	37	chr5	54329635	54329635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtaaaggtgtcttccacGctatagtctctggaggtcat	8	14	10	9	1	4	0	1	0	3	0	6	1	5	1	1	3	0	2	1	3	4	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:54329635G>A	uc003jpl.1	+	4	720	c.676G>A	c.(676-678)Gct>Act	p.A226T		NM_002104	NP_002095	P49863	GRAK_HUMAN	Homo sapiens granzyme K (granzyme 3; tryptase II) (GZMK), mRNA.	226	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity	p.A226S(2)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				TGTCTTCCACGCTATAGTCTC	0.453													A	54329635	G	A	54329635	3	1	274	1	0	0	0	0	1	0	0	0	6973	1087	38	1	694	1	GZMK	5	54329635	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	53112861	54329635	126585625	28	19222											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:67589138G>A	uc003jva.3	+	9	1706	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_uc003jvc.3_Missense_Mutation_p.G76R|PIK3R1_uc003jvd.3_Missense_Mutation_p.G106R|PIK3R1_uc003jve.3_Missense_Mutation_p.G55R|PIK3R1_uc021xzn.1_Missense_Mutation_p.G13R|PIK3R1_uc011crb.2_Missense_Mutation_p.G46R	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(11)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	274	1	0	0	0	0	1	0	0	0	11995	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	13259503	67589138	113326122	29	19223											
SLCO4C1	353189	broad.mit.edu	37	chr5	101599411	101599411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcccatagcaacatcaatGtatatggttagcagttgtcc	11	13	7	10	0	2	0	1	0	1	0	4	0	3	0	2	1	3	5	2	1	6	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:101599411G>A	uc003knm.3	-	3	1163	c.876C>T	c.(874-876)taC>taT	p.Y292Y		NM_180991	NP_851322	Q6ZQN7	SO4C1_HUMAN	Homo sapiens solute carrier organic anion transporter family, member 4C1 (SLCO4C1), mRNA.	292					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAACATCAATGTATATGGTTA	0.358													A	101599411	G	A	101599411	2	1	274	1	0	0	0	0	0	0	0	1	14824	1372	48	2		2	SLCO4C1	5	101599411	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	34010273	101599411	79315849	30	19224											
PCDHB5	26167	broad.mit.edu	37	chr5	140516927	140516927	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	8	5	17	11	4	1	0	1	0	0	0	1	2	1	0	1	5	3	3	1	5	2	0	rs138297526		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140516927C>G	uc003liq.3	+	0	2128	c.1911C>G	c.(1909-1911)caC>caG	p.H637Q		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	637	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													G	140516927	C	G	140516927	3	3	274	1	0	0	0	0	1	0	0	0	11621	477	17	4	1913	4	PCDHB5	5	140516927	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	38917516	140516927	40398333	31	19225											
PCDHB7	56129	broad.mit.edu	37	chr5	140554075	140554075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcgtgctggtgctggaCgccaacgacaactcgccctt	6	8	13	14	5	0	0	0	0	0	0	1	2	0	1	2	2	5	2	2	2	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140554075C>T	uc003lit.3	+	0	1833	c.1659C>T	c.(1657-1659)gaC>gaT	p.D553D		NM_018940	NP_061763	Q9Y5E2	PCDB7_HUMAN	Homo sapiens protocadherin beta 7 (PCDHB7), mRNA.	553	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D553Y(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTGCTGGACGCCAACGACA	0.721													T	140554075	C	T	140554075	2	4	274	1	0	0	0	0	0	0	0	1	11623	535	19	1		1	PCDHB7	5	140554075	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	37148	140554075	40361185	32	19226											
PCDHGC5	56113	broad.mit.edu	37	chr5	140720777	140720777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgggcgtggacggggttCgggctttcctgcagacctat	4	12	16	9	3	0	1	0	0	0	1	2	2	1	2	2	5	1	3	2	5	1	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr5:140720777C>T	uc003ljk.2	+	0	2424	c.2239C>T	c.(2239-2241)Cgg>Tgg	p.R747W	PCDHGC5_uc003lji.2_Intron|PCDHGC5_uc003ljm.2_5'Flank|PCDHGC5_uc011dao.2_Missense_Mutation_p.R747W|PCDHGC5_uc011dap.2_5'Flank	NM_018915	NP_061738	Q9Y5F6	PCDGM_HUMAN	Homo sapiens protocadherin gamma subfamily A, 2 (PCDHGA2), transcript variant 1, mRNA.	757					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGACGGGGTTCGGGCTTTCCT	0.627													T	140720777	C	T	140720777	3	4	274	1	0	0	0	0	1	0	0	0	11647	875	31	1		1	PCDHGC5	5	140720777	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	166702	140720777	40194483	33	19227											
DNAH8	1769	broad.mit.edu	37	chr6	38850799	38850799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaatattagaacaaattttTtgatagacaccattgcaaaa	19	12	4	6	0	0	3	0	1	0	2	0	3	0	3	1	0	2	1	1	0	8	7			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:38850799T>G	uc021yzh.1	+	53	8081	c.7972T>G	c.(7972-7974)Ttg>Gtg	p.L2658V	DNAH8_uc003ooe.2_Missense_Mutation_p.L2441V	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAAATTTTTTGATAGACAC	0.323													G	38850799	T	G	38850799	3	3	274	1	0	0	0	0	1	0	0	0	4646	1838	64	5	7519	5	DNAH8	6	38850799	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		38850799	132264268	34	19228											
SLC35B2	347734	broad.mit.edu	37	chr6	44222858	44222858	+	Frame_Shift_Del	DEL	T	T	-																															tctgcaccgatgacatcttaTaggcaaacagggcatcctgc																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:44222858delT	uc003oxd.3	-	3	1020	c.884delA	c.(883-885)tatfs	p.Y295fs	SLC35B2_uc011dvt.2_Frame_Shift_Del_p.Y198fs|SLC35B2_uc011dvu.2_Frame_Shift_Del_p.Y162fs|SLC35B2_uc021yzy.1_5'Flank	NM_178148	NP_835361	Q8TB61	S35B2_HUMAN	Homo sapiens solute carrier family 35, member B2 (SLC35B2), mRNA.	295					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TGACATCTTATAGGCAAACAG	0.532													-	44222858	T	-	44222858	7	5	274	1	0	1	0	1	0	0	0	0	14670	1406	49	0	418	0	SLC35B2	6	44222858	Frame_Shift_Del	DEL	T	TCGA-76-6656-01A-11D-1845-08	5372059	44222858	126892209	35	19229											
GSTA5	221357	broad.mit.edu	37	chr6	52699018	52699018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctttcctctggttgaCatatgagcagaagaaggatc	11	12	9	9	0	2	4	0	2	2	2	5	5	3	5	1	2	1	2	1	2	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:52699018C>T	uc003pba.1	-	4	405	c.335G>A	c.(334-336)tGt>tAt	p.C112Y		NM_153699	NP_714543	Q7RTV2	GSTA5_HUMAN	Homo sapiens glutathione S-transferase alpha 5 (GSTA5), mRNA.	112	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	p.C112R(1)		endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CTCTGGTTGACATATGAGCAG	0.373													T	52699018	C	T	52699018	3	4	274	1	0	0	0	0	1	0	0	0	6889	478	17	2	345	2	GSTA5	6	52699018	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	8476160	52699018	118416049	36	19230											
MYO6	4646	broad.mit.edu	37	chr6	76545638	76545638	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atacctgactgaatcctatgGaacaggtcaagatattgatg	14	11	9	7	0	1	4	1	3	0	1	2	5	2	5	2	2	2	0	2	2	6	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:76545638G>C	uc003pih.1	+	6	797	c.518G>C	c.(517-519)gGa>gCa	p.G173A	MYO6_uc003pig.1_Missense_Mutation_p.G173A|MYO6_uc003pii.1_Missense_Mutation_p.G173A	NM_004999	NP_004990	Q9UM54	MYO6_HUMAN	Homo sapiens myosin VI (MYO6), mRNA.	173	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GAATCCTATGGAACAGGTCAA	0.279													C	76545638	G	C	76545638	3	2	274	1	0	0	0	0	1	0	0	0	10157	1174	41	4	540	4	MYO6	6	76545638	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	23846620	76545638	94569429	37	19231											
SIM1	6492	broad.mit.edu	37	chr6	100896034	100896034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttacgcaaatggtgcgCgcagcgcaggtggaaggtgt	8	7	16	10	5	0	0	0	0	0	0	0	1	0	1	1	4	3	3	1	4	3	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:100896034C>T	uc003pqj.4	-	6	1305	c.838G>A	c.(838-840)Gcg>Acg	p.A280T	SIM1_uc021zdg.1_Missense_Mutation_p.A280T|SIM1_uc010kcu.3_Missense_Mutation_p.A280T	NM_005068	NP_005059	P81133	SIM1_HUMAN	Homo sapiens single-minded homolog 1 (Drosophila) (SIM1), mRNA.	280	PAS 2.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AAATGGTGCGCGCAGCGCAGG	0.622													T	100896034	C	T	100896034	3	4	274	1	0	0	0	0	1	0	0	0	14417	768	27	1	1482	1	SIM1	6	100896034	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	24350396	100896034	70219033	38	19232											
ASCC3	10973	broad.mit.edu	37	chr6	101073206	101073206	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggctggagaatggcttctAattgctgttgaaaagttgtg	9	15	13	4	0	1	2	0	1	1	1	1	3	1	2	0	3	1	5	0	3	4	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:101073206A>G	uc003pqk.3	-	29	4976	c.4647T>C	c.(4645-4647)atT>atC	p.I1549I		NM_006828	NP_006819	Q8N3C0	HELC1_HUMAN	Homo sapiens activating signal cointegrator 1 complex subunit 3 (ASCC3), transcript variant 1, mRNA.	1549	Helicase C-terminal 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATGGCTTCTAATTGCTGTTG	0.368													G	101073206	A	G	101073206	2	3	274	1	0	0	0	0	0	0	0	1	1038	358	13	3		3	ASCC3	6	101073206	Silent	SNP	A	TCGA-76-6656-01A-11D-1845-08	177172	101073206	70041861	39	19233											
SYNE1	23345	broad.mit.edu	37	chr6	152554981	152554981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccactggctatcaatgcGcgacagctcagagcgcagcg	10	6	12	13	4	2	1	2	0	0	1	3	2	3	1	1	1	4	3	1	1	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:152554981G>A	uc021zhb.1	-	109	20870	c.20647C>T	c.(20647-20649)Cgc>Tgc	p.R6883C	SYNE1_uc003qos.4_Missense_Mutation_p.R1407C|SYNE1_uc003qot.4_Missense_Mutation_p.R6812C|SYNE1_uc003qou.4_Missense_Mutation_p.R6883C	NM_182961	NP_892006	Q8NF91	SYNE1_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 1 (SYNE1), transcript variant 1, mRNA.	6883					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)		CTATCAATGCGCGACAGCTCA	0.512										HNSCC(10;0.0054)			A	152554981	G	A	152554981	3	1	274	1	0	0	0	0	1	0	0	0	15542	1087	38	1	5959	1	SYNE1	6	152554981	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	51481775	152554981	18560086	40	19234											
PDE10A	10846	broad.mit.edu	37	chr6	165808689	165808689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggatgtcccacaggaccGatgaaccatgtagacaaaaa	16	5	9	11	1	0	2	0	1	0	1	1	5	1	4	4	2	1	1	4	2	4	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr6:165808689G>A	uc003qun.3	-	15	1701	c.1456C>T	c.(1456-1458)Cgg>Tgg	p.R486W	PDE10A_uc011egj.2_Non-coding_Transcript|PDE10A_uc011egk.2_Missense_Mutation_p.R416W|PDE10A_uc003quo.3_Missense_Mutation_p.R496W	NM_006661	NP_006652	Q9Y233	PDE10_HUMAN	RecName: Full=cAMP and cAMP-inhibited cGMP 3',5'-cyclic phosphodiesterase 10A;          EC=3.1.4.17;          EC=3.1.4.35;	486					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CCACAGGACCGATGAACCATG	0.383													A	165808689	G	A	165808689	3	1	274	1	0	0	0	0	1	0	0	0	11706	1057	37	1	915	1	PDE10A	6	165808689	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	13253708	165808689	5306378	41	19235											
SDK1	221935	broad.mit.edu	37	chr7	4050739	4050739	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccagtacagcgccgagaCaagcaggtgcgtgaatcccg	10	4	15	12	4	0	2	0	1	0	1	1	3	1	2	3	2	4	2	3	2	3	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4050739C>A	uc003smx.3	+	14	2412	c.2273C>A	c.(2272-2274)aCa>aAa	p.T758K	SDK1_uc010kso.3_Missense_Mutation_p.T34K	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	758	Fibronectin type-III 1.				cell adhesion	integral to membrane		p.T758K(2)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		AGCGCCGAGACAAGCAGGTGC	0.597													A	4050739	C	A	4050739	3	1	274	1	0	0	0	0	1	0	0	0	14061	478	17	4	2331	4	SDK1	7	4050739	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		4050739	155087924	42	19236											
SDK1	221935	broad.mit.edu	37	chr7	4189057	4189057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggcagacctactcctcGtccatcagccatgaggcgac	9	7	11	14	2	1	2	1	1	0	1	4	4	3	2	4	2	2	1	4	2	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:4189057G>A	uc003smx.3	+	29	4726	c.4587G>A	c.(4585-4587)tcG>tcA	p.S1529S	SDK1_uc010kso.3_Silent_p.S805S|SDK1_uc003smy.3_Silent_p.S16S	NM_152744	NP_689957	Q7Z5N4	SDK1_HUMAN	Homo sapiens sidekick cell adhesion molecule 1 (SDK1), transcript variant 1, mRNA.	1529	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCTACTCCTCGTCCATCAGCC	0.682													A	4189057	G	A	4189057	2	1	274	1	0	0	0	0	0	0	0	1	14061	1132	40	1		1	SDK1	7	4189057	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	138318	4189057	154949606	43	19237											
FAM188B	84182	broad.mit.edu	37	chr7	30830978	30830978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggcagaaaaccactgcCagcagccctccccatctgcc	12	4	8	17	0	1	1	0	0	1	1	2	2	2	1	6	1	5	2	6	1	3	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:30830978C>T	uc003tbt.3	+	4	938	c.861C>T	c.(859-861)gcC>gcT	p.A287A	FAM188B_uc010kwe.3_Silent_p.A258A	NM_032222	NP_115598	Q4G0A6	F188B_HUMAN	Homo sapiens family with sequence similarity 188, member B (FAM188B), mRNA.	287										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCACTGCCAGCAGCCCTC	0.637													T	30830978	C	T	30830978	2	4	274	1	0	0	0	0	0	0	0	1	5561	581	21	2		2	FAM188B	7	30830978	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	26641921	30830978	128307685	44	19238											
EGFR	1956	broad.mit.edu	37	chr7	55220329	55220329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccagtgtgctgcaggctGcacaggcccccgggagagcg	8	4	15	14	2	0	1	0	0	0	1	0	2	0	1	3	3	5	4	3	3	1	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:55220329G>A	uc003tqk.3	+	5	965	c.719G>A	c.(718-720)tGc>tAc	p.C240Y	EGFR_uc003tqh.3_Missense_Mutation_p.C240Y|EGFR_uc003tqi.3_Missense_Mutation_p.C240Y|EGFR_uc003tqj.3_Missense_Mutation_p.C240Y|EGFR_uc022adm.1_Missense_Mutation_p.C240Y|EGFR_uc010kzg.2_Missense_Mutation_p.C195Y|EGFR_uc022adn.1_Missense_Mutation_p.C195Y|EGFR_uc011kco.2_Missense_Mutation_p.C187Y|EGFR_uc003tql.1_Non-coding_Transcript	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	240					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GCTGCAGGCTGCACAGGCCCC	0.647		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55220329	G	A	55220329	3	1	274	1	0	0	0	0	1	0	0	0	5006	1319	46	2	741	2	EGFR	7	55220329	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	24389351	55220329	103918334	45	19239											
PHKG1	5260	broad.mit.edu	37	chr7	56151084	56151084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggtcccggtgcacgatgTtgagtttgtgcaaggtgcag	7	11	15	8	2	1	1	1	1	0	0	2	2	2	1	1	3	3	5	1	3	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:56151084T>C	uc011kdb.1	-	6	725	c.530A>G	c.(529-531)aAc>aGc	p.N177S	PSPH_uc003trj.3_Intron|PHKG1_uc003try.1_Missense_Mutation_p.N39S|PHKG1_uc003trz.1_Missense_Mutation_p.N145S|PHKG1_uc011kdc.1_Missense_Mutation_p.N136S|PHKG1_uc011kdd.1_Missense_Mutation_p.N91S	NM_006213	NP_006204	Q16816	PHKG1_HUMAN	Homo sapiens phosphorylase kinase, gamma 1 (muscle) (PHKG1), mRNA.	145	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTGCACGATGTTGAGTTTGTG	0.527													C	56151084	T	C	56151084	3	2	274	1	0	0	0	0	1	0	0	0	11923	1725	60	3	749	3	PHKG1	7	56151084	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	930755	56151084	102987579	46	19240											
CALN1	83698	broad.mit.edu	37	chr7	71571179	71571179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatggccagctccacctcGcttggcatgtaccccaaaga	10	8	9	14	1	0	2	0	1	0	1	2	2	1	2	5	2	2	4	5	2	2	2	rs139754746		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:71571179G>A	uc003twb.4	-	3	736	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_uc003twa.4_Silent_p.S73S|CALN1_uc003twc.4_Silent_p.S73S	NM_031468	NP_001017440	Q9BXU9	CABP8_HUMAN	Homo sapiens calneuron 1 (CALN1), transcript variant 1, mRNA.	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													A	71571179	G	A	71571179	2	1	274	1	0	0	0	0	0	0	0	1	2617	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	15420095	71571179	87567484	47	19241											
KCND2	3751	broad.mit.edu	37	chr7	119915031	119915031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgagtgcatctctgcttaCgatgaagaactggccttctt	9	12	9	11	2	2	2	0	1	2	1	3	4	2	2	1	1	4	2	1	1	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:119915031C>T	uc003vjj.1	+	0	1310	c.345C>T	c.(343-345)taC>taT	p.Y115Y		NM_012281	NP_036413	Q9NZV8	KCND2_HUMAN	Homo sapiens potassium voltage-gated channel, Shal-related subfamily, member 2 (KCND2), mRNA.	115					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	p.Y115Y(2)		NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TCTCTGCTTACGATGAAGAAC	0.542													T	119915031	C	T	119915031	2	4	274	1	0	0	0	0	0	0	0	1	8077	547	19	1		1	KCND2	7	119915031	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	48343852	119915031	39223632	48	19242											
CCDC136	64753	broad.mit.edu	37	chr7	128445464	128445464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaacactgagtatgacGtcagcagagtctcagacttc	12	9	8	12	1	2	4	2	2	1	2	5	4	3	4	1	0	2	2	1	0	2	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:128445464G>A	uc003vnv.2	+	5	1250	c.834G>A	c.(832-834)acG>acA	p.T278T	CCDC136_uc003vnu.2_Silent_p.T316T|CCDC136_uc003vnx.2_Silent_p.T94T|CCDC136_uc010llq.2_5'UTR|CCDC136_uc003vny.2_5'Flank	NM_022742	NP_073579	Q96JN2	CC136_HUMAN	Homo sapiens coiled-coil domain containing 136 (CCDC136), transcript variant 1, mRNA.	278	Glu-rich.					integral to membrane	protein binding	p.T278T(3)|p.T394T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						TGAGTATGACGTCAGCAGAGT	0.502													A	128445464	G	A	128445464	2	1	274	1	0	0	0	0	0	0	0	1	2796	1132	40	1		1	CCDC136	7	128445464	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	8530433	128445464	30693199	49	19243											
TRPV6	55503	broad.mit.edu	37	chr7	142570125	142570125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccccgcatatcactcacCgcaggaaccagcggtctccc	9	6	7	19	3	3	0	2	0	1	0	4	1	3	1	5	2	3	2	5	2	3	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr7:142570125C>T	uc003wbx.2	-	14	2124	c.1895_splice	c.e14+1	p.R632_splice	TRPV6_uc003wbw.1_Splice_Site_p.R418_splice|TRPV6_uc010lou.1_Splice_Site_p.R503_splice	NM_018646	NP_061116	Q9H1D0	TRPV6_HUMAN	Homo sapiens transient receptor potential cation channel, subfamily V, member 6 (TRPV6), mRNA.	632					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TATCACTCACCGCAGGAACCA	0.662													T	142570125	C	T	142570125	3	4	274	1	0	0	0	0	1	0	0	0	16701	666	23	1	290	1	TRPV6	7	142570125	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	14124661	142570125	16568538	50	19244											
MSR1	4481	broad.mit.edu	37	chr8	16012638	16012638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatctcctttttcacccGggggtccaggaggaccttta	6	12	10	13	2	2	0	1	0	1	0	5	3	3	2	4	4	0	0	4	4	1	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:16012638G>A	uc010lsu.3	-	5	951	c.887C>T	c.(886-888)cCg>cTg	p.P296L	MSR1_uc003wwz.3_Missense_Mutation_p.P278L|MSR1_uc003wxa.3_Missense_Mutation_p.P278L|MSR1_uc003wxb.3_Missense_Mutation_p.P278L|MSR1_uc011kxz.2_Missense_Mutation_p.P52L	NM_138715	NP_619729	P21757	MSRE_HUMAN	Homo sapiens macrophage scavenger receptor 1 (MSR1), transcript variant SR-AI, mRNA.	278	Collagen-like.				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTTTTCACCCGGGGGTCCAGG	0.398													A	16012638	G	A	16012638	3	1	274	1	0	0	0	0	1	0	0	0	9962	1116	39	1	590	1	MSR1	8	16012638	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		16012638	130351384	51	19245											
PRDM14	63978	broad.mit.edu	37	chr8	70964463	70964463	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcaaaagatttaccaCagtacttgcatttgaagggc	13	10	11	7	0	0	2	0	1	0	1	0	3	0	3	1	2	4	3	1	2	5	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:70964463C>A	uc003xym.3	-	7	1767	c.1565G>T	c.(1564-1566)tGt>tTt	p.C522F		NM_024504	NP_078780	Q9GZV8	PRD14_HUMAN	Homo sapiens PR domain containing 14 (PRDM14), mRNA.	522					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			AGATTTACCACAGTACTTGCA	0.517													A	70964463	C	A	70964463	3	1	274	1	0	0	0	0	1	0	0	0	12541	478	17	4	154	4	PRDM14	8	70964463	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	54951825	70964463	75399559	52	19246											
MTDH	92140	broad.mit.edu	37	chr8	98731338	98731338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatacctctaaaacccGtccaaaacaggaaaaagctt	18	7	6	10	1	1	1	0	1	1	0	2	2	2	2	3	1	4	1	3	1	8	3	rs143317071		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:98731338G>A	uc003yhz.3	+	9	1770	c.1442G>A	c.(1441-1443)cGt>cAt	p.R481H	MTDH_uc010mbf.3_Non-coding_Transcript	NM_178812	NP_848927	Q86UE4	LYRIC_HUMAN	Homo sapiens metadherin (MTDH), mRNA.	481					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.T480T(1)|p.R481S(1)|p.T480A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			TCTAAAACCCGTCCAAAACAG	0.333													A	98731338	G	A	98731338	3	1	274	1	0	0	0	0	1	0	0	0	9993	1145	40	1	1480	1	MTDH	8	98731338	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	27766875	98731338	47632684	53	19247											
WISP1	8840	broad.mit.edu	37	chr8	134239690	134239690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgtgtaccagccagagGcatccatgaacttcacactt	10	10	9	12	0	1	2	1	1	0	1	2	2	2	2	3	2	3	3	3	2	2	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr8:134239690G>A	uc003yub.3	+	4	947	c.841G>A	c.(841-843)Gca>Aca	p.A281T	WISP1_uc003yuc.3_Missense_Mutation_p.A194T|WISP1_uc010meb.3_Missense_Mutation_p.A109T|WISP1_uc010mec.3_Missense_Mutation_p.G129D|WISP1_uc010med.3_Missense_Mutation_p.A36T|WISP1_uc003yud.3_Non-coding_Transcript	NM_003882	NP_003873	O95388	WISP1_HUMAN	Homo sapiens WNT1 inducible signaling pathway protein 1 (WISP1), transcript variant 1, mRNA.	281	CTCK.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCAGCCAGAGGCATCCATGAA	0.527													A	134239690	G	A	134239690	3	1	274	1	0	0	0	0	1	0	0	0	17474	1203	42	2	859	2	WISP1	8	134239690	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	35508352	134239690	12124332	54	19248											
KIAA0020	9933	broad.mit.edu	37	chr9	2837296	2837296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaactgctttacacccTttttcccaagttttgtgata	8	18	5	10	0	1	2	0	2	1	0	2	2	2	2	2	0	3	2	2	0	4	8			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:2837296T>C	uc003zhp.1	-	2	284	c.188A>G	c.(187-189)aAg>aGg	p.K63R	KIAA0020_uc003zhq.1_Missense_Mutation_p.K63R	NM_014878	NP_055693	Q15397	K0020_HUMAN	Homo sapiens KIAA0020 (KIAA0020), mRNA.	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													C	2837296	T	C	2837296	3	2	274	1	0	0	0	0	1	0	0	0	8210	1609	56	3	1822	3	KIAA0020	9	2837296	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		2837296	138376135	55	19249											
FAM75C1	441452	broad.mit.edu	37	chr9	90536630	90536630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccgtgagtgtgcGtcgatcctggcttgctgtca	4	13	12	12	3	1	2	1	2	0	0	4	3	3	2	3	1	2	2	3	1	0	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:90536630G>A	uc010mqi.3	+	3	1837	c.1808G>A	c.(1807-1809)cGt>cAt	p.R603H	FAM75C1_uc004apq.4_Missense_Mutation_p.R586H	NM_001145124	NP_001138596			Homo sapiens family with sequence similarity 75, member C1 (FAM75C1), mRNA.																		GTGAGTGTGCGTCGATCCTGG	0.512													A	90536630	G	A	90536630	3	1	274	1	0	0	0	0	1	0	0	0	5673	1145	40	1	1822	1	FAM75C1	9	90536630	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	87699334	90536630	50676801	56	19250											
BICD2	23299	broad.mit.edu	37	chr9	95481762	95481762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcagattctctgtgaggcGggtcaccttctcctgctgtt	5	14	10	12	1	4	2	2	1	2	1	6	2	4	2	2	2	1	2	2	2	0	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:95481762G>A	uc004asp.1	-	4	1222	c.1165C>T	c.(1165-1167)Cgc>Tgc	p.R389C	BICD2_uc004aso.1_Missense_Mutation_p.R389C	NM_001003800	NP_001003800	Q8TD16	BICD2_HUMAN	Homo sapiens bicaudal D homolog 2 (Drosophila) (BICD2), transcript variant 1, mRNA.	389					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						TCTGTGAGGCGGGTCACCTTC	0.647													A	95481762	G	A	95481762	3	1	274	1	0	0	0	0	1	0	0	0	1435	1116	39	1	1424	1	BICD2	9	95481762	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	4945132	95481762	45731669	57	19251											
SH2D3C	10044	broad.mit.edu	37	chr9	130507103	130507103	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggcctgctggctggAggtctcagtcgctgcccact	3	10	13	15	1	1	0	1	0	1	0	4	1	2	1	3	4	2	4	3	4	0	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:130507103A>G	uc004bsc.3	-	6	1682	c.1540T>C	c.(1540-1542)Tcc>Ccc	p.S514P	SH2D3C_uc010mxo.3_Missense_Mutation_p.S354P|SH2D3C_uc004bry.3_Missense_Mutation_p.S356P|SH2D3C_uc004brz.4_Missense_Mutation_p.S160P|SH2D3C_uc011mak.2_Missense_Mutation_p.S160P|SH2D3C_uc004bsb.3_Missense_Mutation_p.S446P|SH2D3C_uc004bsa.3_Missense_Mutation_p.S357P	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN	Homo sapiens SH2 domain containing 3C (SH2D3C), transcript variant 1, mRNA.	514					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	p.T513N(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGCTGGCTGGAGGTCTCAGTC	0.622													G	130507103	A	G	130507103	3	3	274	1	0	0	0	0	1	0	0	0	14327	304	11	3	1066	3	SH2D3C	9	130507103	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	35025341	130507103	10706328	58	19252											
NTNG2	84628	broad.mit.edu	37	chr9	135042315	135042315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacagatgagggccccAcctgggagttctacgcctgc	8	7	12	14	1	1	3	0	2	1	1	1	4	1	4	5	2	2	1	5	2	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:135042315A>C	uc004cbh.2	+	1	873	c.97A>C	c.(97-99)Acc>Ccc	p.T33P		NM_032536	NP_115925	Q96CW9	NTNG2_HUMAN	Homo sapiens netrin G2 (NTNG2), mRNA.	33					axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		TGAGGGCCCCACCTGGGAGTT	0.607													C	135042315	A	C	135042315	3	2	274	1	0	0	0	0	1	0	0	0	10781	159	6	5	99	5	NTNG2	9	135042315	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08	4535212	135042315	6171116	59	19253											
COL5A1	1289	broad.mit.edu	37	chr9	137716532	137716532	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccagctgctggacgaCgggaatggcgagaactacgt	10	5	15	11	4	0	1	0	0	0	1	0	5	0	3	2	3	5	2	2	3	3	1	rs149981025		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr9:137716532C>T	uc004cfe.3	+	61	5167	c.4785C>T	c.(4783-4785)gaC>gaT	p.D1595D	BC058547_uc004cff.3_Intron	NM_000093	NP_000084	P20908	CO5A1_HUMAN	Homo sapiens collagen, type V, alpha 1 (COL5A1), mRNA.	1595	Nonhelical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TGCTGGACGACGGGAATGGCG	0.627													T	137716532	C	T	137716532	2	4	274	1	0	0	0	0	0	0	0	1	3727	535	19	1		1	COL5A1	9	137716532	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	2674217	137716532	3496899	60	19254											
TET1	80312	broad.mit.edu	37	chr10	70332622	70332622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactctaattggtgtacAaaatccctctttacttaaag	14	13	6	8	0	2	1	0	0	2	1	3	2	3	1	1	1	2	1	1	1	7	6			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:70332622A>G	uc001jok.4	+	1	1032	c.527A>G	c.(526-528)cAa>cGa	p.Q176R		NM_030625	NP_085128	Q8NFU7	TET1_HUMAN	Homo sapiens tet methylcytosine dioxygenase 1 (TET1), mRNA.	176					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						ATTGGTGTACAAAATCCCTCT	0.433													G	70332622	A	G	70332622	3	3	274	1	0	0	0	0	1	0	0	0	15869	130	5	3	529	3	TET1	10	70332622	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08		70332622	65202125	61	19255											
ATRNL1	26033	broad.mit.edu	37	chr10	117061383	117061383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttagtccaaatcaaaatgCgaggccgtgcaaaaagccat	16	7	9	9	2	1	0	1	0	0	0	2	1	2	0	3	1	3	2	3	1	6	1	rs140372621		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:117061383C>T	uc001lcg.3	+	16	3034	c.2648C>T	c.(2647-2649)gCg>gTg	p.A883V	ATRNL1_uc010qsm.2_Missense_Mutation_p.A58V|ATRNL1_uc010qsn.2_Non-coding_Transcript	NM_207303	NP_997186	Q5VV63	ATRN1_HUMAN	Homo sapiens attractin-like 1 (ATRNL1), mRNA.	883						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		AATCAAAATGCGAGGCCGTGC	0.378													T	117061383	C	T	117061383	3	4	274	1	0	0	0	0	1	0	0	0	1212	768	27	1	2714	1	ATRNL1	10	117061383	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	46728761	117061383	18473364	62	19256											
HSPA12A	259217	broad.mit.edu	37	chr10	118434624	118434624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaacttgtcaaagacgtCggtgcaccaccgagtgccat	11	8	11	11	3	1	2	1	1	0	1	2	4	1	2	3	1	3	1	3	1	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr10:118434624C>T	uc001lct.3	-	11	1801	c.1696G>A	c.(1696-1698)Gac>Aac	p.D566N	HSPA12A_uc001lcu.3_Missense_Mutation_p.D483N	NM_025015	NP_079291	O43301	HS12A_HUMAN	Homo sapiens heat shock 70kDa protein 12A (HSPA12A), mRNA.	566							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCAAAGACGTCGGTGCACCAC	0.622													T	118434624	C	T	118434624	3	4	274	1	0	0	0	0	1	0	0	0	7461	884	31	1	335	1	HSPA12A	10	118434624	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	1373241	118434624	17100123	63	19257											
TRIM21	6737	broad.mit.edu	37	chr11	4410895	4410895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcttaccttccagtctgCtctctttattgcaatttcca	7	18	3	13	0	3	0	0	0	3	0	6	0	5	0	3	0	3	2	3	0	3	7			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4410895C>A	uc001lyy.1	-	2	606	c.493G>T	c.(493-495)Gca>Tca	p.A165S		NM_003141	NP_003132	P19474	RO52_HUMAN	Homo sapiens tripartite motif containing 21 (TRIM21), mRNA.	165					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		TTCCAGTCTGCTCTCTTTATT	0.507													A	4410895	C	A	4410895	3	1	274	1	0	0	0	0	1	0	0	0	16596	797	28	4	954	4	TRIM21	11	4410895	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		4410895	130595621	64	19258											
OR51G1	79324	broad.mit.edu	37	chr11	4944754	4944754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgaagaggtgtacaacGcggggcagatgttcaccaaa	14	6	13	8	2	1	3	1	1	0	2	1	4	1	3	1	3	2	3	1	3	4	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:4944754G>A	uc010qyr.2	-	0	816	c.816C>T	c.(814-816)cgC>cgT	p.R272R		NM_001005237	NP_001005237	Q8NGK1	O51G1_HUMAN	Homo sapiens olfactory receptor, family 51, subfamily G, member 1 (OR51G1), mRNA.	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGTGTACAACGCGGGGCAGAT	0.498													A	4944754	G	A	4944754	2	1	274	1	0	0	0	0	0	0	0	1	11174	1074	38	1		1	OR51G1	11	4944754	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	533859	4944754	130061762	65	19259											
C11orf41	25758	broad.mit.edu	37	chr11	33566719	33566719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccaccaacctggagatGcccagagcatccacgccacg	12	3	8	18	2	0	2	0	0	0	2	1	3	1	2	7	1	4	1	7	1	2	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:33566719G>A	uc021qfs.1	+	1	2413	c.2289G>A	c.(2287-2289)atG>atA	p.M763I	C11orf41_uc001mun.1_Missense_Mutation_p.M769I	NM_012194	NP_036326	Q6ZVL6	CK041_HUMAN	Homo sapiens chromosome 11 open reading frame 41 (C11orf41), mRNA.	763						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	52						ACCTGGAGATGCCCAGAGCAT	0.592													A	33566719	G	A	33566719	3	1	274	1	0	0	0	0	1	0	0	0	1652	1319	46	2	2313	2	C11orf41	11	33566719	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	28621965	33566719	101439797	66	19260											
LRRC4C	57689	broad.mit.edu	37	chr11	40136459	40136459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatcctgagacggttccaTagtctctactgtgacggttg	7	13	10	11	2	2	2	1	2	1	1	5	3	4	2	2	2	1	2	2	2	2	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:40136459T>C	uc021qgf.1	-	0	1384	c.1384A>G	c.(1384-1386)Atg>Gtg	p.M462V	LRRC4C_uc001mxc.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxd.1_Missense_Mutation_p.M458V|LRRC4C_uc001mxa.1_Missense_Mutation_p.M462V|LRRC4C_uc001mxb.1_Missense_Mutation_p.M458V	NM_020929	NP_065980	Q9HCJ2	LRC4C_HUMAN	Homo sapiens leucine rich repeat containing 4C (LRRC4C), mRNA.	462					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GACGGTTCCATAGTCTCTACT	0.507													C	40136459	T	C	40136459	3	2	274	1	0	0	0	0	1	0	0	0	9078	1406	49	3	542	3	LRRC4C	11	40136459	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	6569740	40136459	94870057	67	19261											
INCENP	3619	broad.mit.edu	37	chr11	61895641	61895641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagagccaccatggggaCgacggccccagggcccattc	10	3	13	15	2	0	2	0	0	0	2	1	4	0	3	5	4	1	0	5	4	0	1	rs61744797		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:61895641C>T	uc001nsw.1	+	1	210	c.8C>T	c.(7-9)aCg>aTg	p.T3M	INCENP_uc009ynv.3_Missense_Mutation_p.T3M|INCENP_uc009ynw.1_Missense_Mutation_p.T3M|INCENP_uc001nsx.1_Missense_Mutation_p.T3M	NM_001040694	NP_001035784	Q9NQS7	INCE_HUMAN	Homo sapiens inner centromere protein antigens 135/155kDa (INCENP), transcript variant 1, mRNA.	3					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						ACCATGGGGACGACGGCCCCA	0.567													T	61895641	C	T	61895641	3	4	274	1	0	0	0	0	1	0	0	0	7791	536	19	1	10	1	INCENP	11	61895641	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	21759182	61895641	73110875	68	19262											
RSF1	51773	broad.mit.edu	37	chr11	77413468	77413468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtagtctcttctagaacaTtggctgtagaacggttttct	9	15	9	8	1	3	2	0	0	3	2	4	2	3	2	0	2	2	4	0	2	5	7			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:77413468T>C	uc001oyn.3	-	5	926	c.806A>G	c.(805-807)aAt>aGt	p.N269S	RSF1_uc001oym.3_Missense_Mutation_p.N17S	NM_016578	NP_057662	Q96T23	RSF1_HUMAN	Homo sapiens remodeling and spacing factor 1 (RSF1), mRNA.	269	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTCTAGAACATTGGCTGTAGA	0.348													C	77413468	T	C	77413468	3	2	274	1	0	0	0	0	1	0	0	0	13790	1493	52	3	3563	3	RSF1	11	77413468	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	15517827	77413468	57593048	69	19263											
KCNJ5	3762	broad.mit.edu	37	chr11	128786516	128786516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagtacctccccagccccCcactgctggggggctgtgct	4	8	11	18	0	0	0	0	0	0	0	2	0	2	0	7	3	4	4	7	3	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr11:128786516C>T	uc001qet.3	+	2	1464	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	KCNJ5_uc009zck.3_Missense_Mutation_p.P384S|KCNJ5_uc001qew.3_Missense_Mutation_p.P384S	NM_000890	NP_000881	P48544	IRK5_HUMAN	Homo sapiens potassium inwardly-rectifying channel, subfamily J, member 5 (KCNJ5), mRNA.	384					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CCCCAGCCCCCCACTGCTGGG	0.627													T	128786516	C	T	128786516	3	4	274	1	0	0	0	0	1	0	0	0	8112	623	22	2	1156	2	KCNJ5	11	128786516	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	51373048	128786516	6220000	70	19264											
LGR5	8549	broad.mit.edu	37	chr12	71977624	71977624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgggagtctccagtgccGtgctggctggtgtggatgcg	4	10	17	10	3	2	0	1	0	1	0	3	2	2	2	2	4	3	2	2	4	0	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:71977624G>A	uc001swl.3	+	17	1882	c.1834G>A	c.(1834-1836)Gtg>Atg	p.V612M	LGR5_uc001swm.3_Missense_Mutation_p.V588M|LGR5_uc021rar.1_Missense_Mutation_p.V540M|LGR5_uc001swn.1_Non-coding_Transcript	NM_003667	NP_003658	O75473	LGR5_HUMAN	Homo sapiens leucine-rich repeat containing G protein-coupled receptor 5 (LGR5), mRNA.	612						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						CTCCAGTGCCGTGCTGGCTGG	0.507													A	71977624	G	A	71977624	3	1	274	1	0	0	0	0	1	0	0	0	8817	1145	40	1	1904	1	LGR5	12	71977624	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		71977624	61874271	71	19265											
CCDC41	51134	broad.mit.edu	37	chr12	94761707	94761707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccaaatctgctaatctgttCtcgagttctaacctaaaaca	13	13	4	11	1	4	0	0	0	4	0	6	1	5	0	2	0	3	3	2	0	5	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:94761707C>G	uc001tdd.3	-	10	1792	c.1206G>C	c.(1204-1206)gaG>gaC	p.E402D	CCDC41_uc001tde.3_Missense_Mutation_p.E402D|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	394										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						CTAATCTGTTCTCGAGTTCTA	0.343													G	94761707	C	G	94761707	3	3	274	1	0	0	0	0	1	0	0	0	2840	912	32	4	927	4	CCDC41	12	94761707	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	22784083	94761707	39090188	72	19266											
RBM19	9904	broad.mit.edu	37	chr12	114282581	114282581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgctgtgacacagggCgttgaaggctctctgcagag	7	9	17	8	1	1	3	0	2	1	1	2	3	1	3	0	3	2	4	0	3	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr12:114282581C>T	uc009zwi.2	-	22	2821	c.2677G>A	c.(2677-2679)Gcc>Acc	p.A893T	RBM19_uc001tvn.4_Missense_Mutation_p.A893T|RBM19_uc001tvm.3_Missense_Mutation_p.A893T	NM_001146699	NP_057280	Q9Y4C8	RBM19_HUMAN	Homo sapiens RNA binding motif protein 19 (RBM19), transcript variant 1, mRNA.	893	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TGACACAGGGCGTTGAAGGCT	0.642													T	114282581	C	T	114282581	3	4	274	1	0	0	0	0	1	0	0	0	13209	768	27	1	213	1	RBM19	12	114282581	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	19520874	114282581	19569314	73	19267											
RNF17	56163	broad.mit.edu	37	chr13	25417989	25417989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcctgtgtctgcaaaatCtctacctaatgagaattttc	13	14	5	9	0	2	1	0	1	2	1	5	2	3	1	2	0	2	1	2	0	6	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:25417989C>T	uc001upr.3	+	19	2752	c.2711C>T	c.(2710-2712)tCt>tTt	p.S904F	RNF17_uc010tdd.1_Missense_Mutation_p.S763F|RNF17_uc010tde.2_Missense_Mutation_p.S904F|RNF17_uc010aab.3_Non-coding_Transcript|RNF17_uc001ups.3_Missense_Mutation_p.S843F|RNF17_uc010aac.3_Missense_Mutation_p.S102F|RNF17_uc010aad.3_5'UTR	NM_031277	NP_112567	Q9BXT8	RNF17_HUMAN	Homo sapiens ring finger protein 17 (RNF17), transcript variant 1, mRNA.	904					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCTGCAAAATCTCTACCTAAT	0.323													T	25417989	C	T	25417989	3	4	274	1	0	0	0	0	1	0	0	0	13552	913	32	2	2789	2	RNF17	13	25417989	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		25417989	89751889	74	19268											
SHISA2	387914	broad.mit.edu	37	chr13	26621160	26621160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccaagatgataaaggCgacaaacacggagccaacaa	18	2	10	11	2	0	2	0	1	0	1	0	5	0	4	3	3	3	0	3	3	6	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:26621160C>T	uc001uqm.1	-	1	464	c.379G>A	c.(379-381)Gcc>Acc	p.A127T		NM_001007538	NP_001007539	Q6UWI4	SHSA2_HUMAN	Homo sapiens shisa homolog 2 (Xenopus laevis) (SHISA2), mRNA.	127					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	17						ATGATAAAGGCGACAAACACG	0.542													T	26621160	C	T	26621160	3	4	274	1	0	0	0	0	1	0	0	0	14374	768	27	1	512	1	SHISA2	13	26621160	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	1203171	26621160	88548718	75	19269											
PCDH17	27253	broad.mit.edu	37	chr13	58299189	58299189	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacagtcaatatctgtcaCctagtaagcaaccaagagac	15	8	7	11	0	3	2	2	1	1	1	3	3	3	2	2	0	2	2	2	0	6	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:58299189C>G	uc001vhq.1	+	3	4133	c.3241C>G	c.(3241-3243)Cct>Gct	p.P1081A	PCDH17_uc010aec.1_Missense_Mutation_p.P1080A|PCDH17_uc001vhr.1_Missense_Mutation_p.P170A	NM_001040429	NP_001035519	O14917	PCD17_HUMAN	Homo sapiens protocadherin 17 (PCDH17), mRNA.	1081					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		ATATCTGTCACCTAGTAAGCA	0.527													G	58299189	C	G	58299189	3	3	274	1	0	0	0	0	1	0	0	0	11588	507	18	4	3255	4	PCDH17	13	58299189	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	31678029	58299189	56870689	76	19270											
DACH1	1602	broad.mit.edu	37	chr13	72147083	72147083	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgccatggtgacagaTgctggaggtaggctgacagg	9	9	15	8	0	1	3	1	2	0	1	1	4	1	4	1	5	2	3	1	5	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr13:72147083T>C	uc021rkj.1	-	3	1617	c.1194A>G	c.(1192-1194)gcA>gcG	p.A398A	DACH1_uc021rkk.1_Intron|DACH1_uc021rkl.1_Intron	NM_080759	NP_542937	Q9UI36	DACH1_HUMAN	Homo sapiens dachshund homolog 1 (Drosophila) (DACH1), transcript variant 1, mRNA.	448					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding	p.A398T(1)		NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		TGGTGACAGATGCTGGAGGTA	0.473													C	72147083	T	C	72147083	2	2	274	1	0	0	0	0	0	0	0	1	4254	1451	51	3		3	DACH1	13	72147083	Silent	SNP	T	TCGA-76-6656-01A-11D-1845-08	13847894	72147083	43022795	77	19271											
ARID4A	5926	broad.mit.edu	37	chr14	58771705	58771705	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaattggtacaagatgAccaagtaaagggtcctttaa	16	9	8	8	0	0	2	0	1	0	1	1	2	1	2	2	2	1	2	2	2	7	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:58771705A>G	uc001xdp.3	+	3	415	c.161A>G	c.(160-162)gAc>gGc	p.D54G	ARID4A_uc010apf.1_Non-coding_Transcript|ARID4A_uc001xdo.3_Missense_Mutation_p.D54G|ARID4A_uc001xdq.3_Missense_Mutation_p.D54G	NM_002892	NP_002883	P29374	ARI4A_HUMAN	Homo sapiens AT rich interactive domain 4A (RBP1-like) (ARID4A), transcript variant 1, mRNA.	54					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GTACAAGATGACCAAGTAAAG	0.279													G	58771705	A	G	58771705	3	3	274	1	0	0	0	0	1	0	0	0	922	275	10	3	171	3	ARID4A	14	58771705	Missense_Mutation	SNP	A	TCGA-76-6656-01A-11D-1845-08		58771705	48577835	78	19272											
SYNE2	23224	broad.mit.edu	37	chr14	64450574	64450574	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaacagatatgtcagtagaActtcctgaaaattataatca	17	12	5	7	0	3	3	3	1	0	2	4	3	4	3	1	0	2	1	1	0	8	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr14:64450574A>G	uc001xgl.3	+	17	2351	c.2121A>G	c.(2119-2121)gaA>gaG	p.E707E	SYNE2_uc001xgm.3_Silent_p.E707E|SYNE2_uc021ruh.1_Silent_p.E707E	NM_182914	NP_878918	Q8WXH0	SYNE2_HUMAN	Homo sapiens spectrin repeat containing, nuclear envelope 2 (SYNE2), transcript variant 5, mRNA.	707					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TGTCAGTAGAACTTCCTGAAA	0.259													G	64450574	A	G	64450574	2	3	274	1	0	0	0	0	0	0	0	1	15543	40	2	3		3	SYNE2	14	64450574	Silent	SNP	A	TCGA-76-6656-01A-11D-1845-08	5678869	64450574	42898966	79	19273											
ATP10A	57194	broad.mit.edu	37	chr15	26026298	26026298	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtccgcagggaagatttcGttgcagcgaagacgcacaaa	13	7	12	9	4	0	2	0	0	0	2	2	4	1	3	1	1	2	4	1	1	3	2	rs145190957	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:26026298G>A	uc010ayu.3	-	1	628	c.522C>T	c.(520-522)aaC>aaT	p.N174N		NM_024490	NP_077816	O60312	AT10A_HUMAN	Homo sapiens ATPase, class V, type 10A (ATP10A), mRNA.	174					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAAGATTTCGTTGCAGCGAA	0.498													A	26026298	G	A	26026298	2	1	274	1	0	0	0	0	0	0	0	1	1121	1136	40	1		1	ATP10A	15	26026298	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		26026298	76505094	80	19274											
SPINT1	6692	broad.mit.edu	37	chr15	41146113	41146113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctctggggctcaggCgactttcccccagggtgagt	6	8	15	12	1	2	1	1	1	1	0	3	2	3	1	2	5	1	3	2	5	0	1	rs145193299		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:41146113C>T	uc001zna.3	+	4	1151	c.947C>T	c.(946-948)gCg>gTg	p.A316V	SPINT1_uc001znb.3_Intron|SPINT1_uc001znc.3_Intron|SPINT1_uc010ucs.2_Missense_Mutation_p.A316V	NM_181642	NP_857593	O43278	SPIT1_HUMAN	Homo sapiens serine peptidase inhibitor, Kunitz type 1 (SPINT1), transcript variant 1, mRNA.	316						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GGGGCTCAGGCGACTTTCCCC	0.592													T	41146113	C	T	41146113	3	4	274	1	0	0	0	0	1	0	0	0	15164	768	27	1	961	1	SPINT1	15	41146113	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	15119815	41146113	61385279	81	19275											
GABPB1	2553	broad.mit.edu	37	chr15	50593063	50593063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctaatactgatgtagaaGagtttccaaactgaacagca	16	10	8	7	0	0	4	0	2	0	2	1	4	1	4	1	0	5	4	1	0	7	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr15:50593063G>T	uc001zyb.3	-	5	1080	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	GABPB1_uc001zya.3_Missense_Mutation_p.S207Y|GABPB1_uc010ufg.2_Missense_Mutation_p.S143Y|GABPB1_uc001zyd.3_Missense_Mutation_p.S207Y|GABPB1_uc001zye.3_Missense_Mutation_p.S219Y|GABPB1_uc001zyf.3_Missense_Mutation_p.S207Y|GABPB1_uc001zyc.3_Missense_Mutation_p.S207Y	NM_005254	NP_005245	Q06547	GABP1_HUMAN	Homo sapiens GA binding protein transcription factor, beta subunit 1 (GABPB1), transcript variant beta-1, mRNA.	219					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TGATGTAGAAGAGTTTCCAAA	0.363													T	50593063	G	T	50593063	3	4	274	1	0	0	0	0	1	0	0	0	6210	942	33	4	595	4	GABPB1	15	50593063	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	9446950	50593063	51938329	82	19276											
USP7	7874	broad.mit.edu	37	chr16	8998407	8998407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatcatggtcggtgaccGcctgtaaaacttcacctgca	11	10	9	11	2	2	1	2	1	0	0	3	2	2	1	3	2	2	2	3	2	4	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:8998407G>A	uc002czl.2	-	14	1788	c.1589C>T	c.(1588-1590)gCg>gTg	p.A530V	USP7_uc010uyk.1_Missense_Mutation_p.A431V|USP7_uc010uyj.1_Missense_Mutation_p.A431V|USP7_uc002czk.2_Missense_Mutation_p.A514V|USP7_uc010uyl.1_Intron	NM_003470	NP_003461	Q93009	UBP7_HUMAN	Homo sapiens ubiquitin specific peptidase 7 (herpes virus-associated) (USP7), mRNA.	530					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.A530V(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTCGGTGACCGCCTGTAAAAC	0.502													A	8998407	G	A	8998407	3	1	274	1	0	0	0	0	1	0	0	0	17190	1087	38	1	1787	1	USP7	16	8998407	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		8998407	81356346	83	19277											
ERCC4	2072	broad.mit.edu	37	chr16	14029049	14029049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaccgaacatgttcccagctGagagactatatcactcttgg	11	10	9	11	1	2	2	1	1	1	1	3	5	3	2	2	1	2	2	2	1	3	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:14029049G>A	uc002dce.2	+	7	1269	c.1260G>A	c.(1258-1260)ctG>ctA	p.L420L	ERCC4_uc010uyz.1_5'UTR	NM_005236	NP_005227	Q92889	XPF_HUMAN	Homo sapiens excision repair cross-complementing rodent repair deficiency, complementation group 4 (ERCC4), mRNA.	420					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						GTTCCCAGCTGAGAGACTATA	0.403			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14029049	G	A	14029049	2	1	274	1	0	0	0	0	0	0	0	1	5256	1277	45	2		2	ERCC4	16	14029049	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	5030642	14029049	76325704	84	19278											
CNOT1	23019	broad.mit.edu	37	chr16	58587731	58587731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagtgactgatagaagcCaaatgctgacaatactgggg	16	8	11	6	0	0	4	0	3	0	1	0	4	0	4	1	2	3	1	1	2	7	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr16:58587731C>T	uc002env.3	-	21	3218	c.2925G>A	c.(2923-2925)ttG>ttA	p.L975L	CNOT1_uc002enw.3_Non-coding_Transcript|CNOT1_uc002enu.4_Silent_p.L970L|CNOT1_uc002enx.3_Silent_p.L975L|CNOT1_uc002enz.1_Silent_p.L404L|CNOT1_uc010vik.2_5'Flank	NM_016284	NP_057368	A5YKK6	CNOT1_HUMAN	Homo sapiens CCR4-NOT transcription complex, subunit 1 (CNOT1), transcript variant 1, mRNA.	975					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGATAGAAGCCAAATGCTGAC	0.368													T	58587731	C	T	58587731	2	4	274	1	0	0	0	0	0	0	0	1	3648	593	21	2		2	CNOT1	16	58587731	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	44558682	58587731	31767022	85	19279											
PIK3R5	23533	broad.mit.edu	37	chr17	8791674	8791674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgggctggggcagggagCgggagcgctgggcccgggaa	5	5	23	8	3	0	0	0	0	0	0	0	3	0	3	1	7	2	4	1	7	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:8791674C>T	uc002glt.3	-	9	1497	c.1430G>A	c.(1429-1431)cGc>cAc	p.R477H	PIK3R5_uc010vuz.2_Missense_Mutation_p.R477H|PIK3R5_uc021tqc.1_Missense_Mutation_p.R91H|PIK3R5_uc010cob.2_Missense_Mutation_p.R91H|PIK3R5_uc010coa.2_Missense_Mutation_p.R91H|PIK3R5_uc002glu.4_Missense_Mutation_p.R91H	NM_014308	NP_001238784	Q8WYR1	PI3R5_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 5 (PIK3R5), transcript variant 2, mRNA.	477					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGGCAGGGAGCGGGAGCGCTG	0.721													T	8791674	C	T	8791674	3	4	274	1	0	0	0	0	1	0	0	0	11999	768	27	1	1252	1	PIK3R5	17	8791674	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		8791674	72403536	86	19280											
MYH13	8735	broad.mit.edu	37	chr17	10215249	10215249	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagatttttgttctctcGcctcagtgtctctaactggt	5	18	8	10	1	3	1	1	0	2	1	6	1	3	1	1	1	2	2	1	1	1	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:10215249G>A	uc002gmk.1	-	31	4600	c.4510C>T	c.(4510-4512)Cga>Tga	p.R1504*		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1504					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGTTCTCTCGCCTCAGTGTC	0.542													A	10215249	G	A	10215249	4	1	274	1	0	0	0	0	0	1	0	0	10108	1095	38	1	1346	1	MYH13	17	10215249	Nonsense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	1423575	10215249	70979961	87	19281											
KRT35	3886	broad.mit.edu	37	chr17	39637207	39637207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactgagcaggcagagaaaCttctggccacaggggagaga	13	4	14	10	0	1	3	0	1	1	2	1	6	1	4	2	4	2	2	2	4	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:39637207C>A	uc002hws.3	-	0	186	c.143G>T	c.(142-144)aGt>aTt	p.S48I		NM_002280	NP_002271	Q92764	KRT35_HUMAN	Homo sapiens keratin 35 (KRT35), mRNA.	48	Head.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				GGCAGAGAAACTTCTGGCCAC	0.622													A	39637207	C	A	39637207	3	1	274	1	0	0	0	0	1	0	0	0	8530	565	20	4	1252	4	KRT35	17	39637207	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	29421958	39637207	41558003	88	19282											
CYTH1	9267	broad.mit.edu	37	chr17	76705733	76705733	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgccactctcctaccTgaatgtcagccagcagctcc	9	8	6	18	0	2	1	1	1	1	0	4	1	3	1	6	0	5	2	6	0	2	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr17:76705733T>C	uc021ueg.1	-	2	176	c.105_splice	c.e2+1	p.Q35_splice	CYTH1_uc002jvw.3_Splice_Site_p.Q35_splice|CYTH1_uc010wtw.1_Splice_Site|CYTH1_uc010wtx.1_Splice_Site	NM_004762	NP_004753	Q15438	CYH1_HUMAN	Homo sapiens cytohesin 1 (CYTH1), transcript variant 1, mRNA.	35					regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						CTCTCCTACCTGAATGTCAGC	0.498													C	76705733	T	C	76705733	3	2	274	1	0	0	0	0	1	0	0	0	4236	1594	55	3	1140	3	CYTH1	17	76705733	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	37068526	76705733	4489477	89	19283											
ZNF556	80032	broad.mit.edu	37	chr19	2878077	2878077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtctataaatgtgaaaCgtgtgggaaaacgtatggtt	15	11	12	3	2	1	1	0	1	1	0	1	3	1	2	0	2	2	2	0	2	8	4	rs139830711	byFrequency	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:2878077C>T	uc002lwp.1	+	3	1208	c.1121C>T	c.(1120-1122)aCg>aTg	p.T374M	ZNF556_uc002lwq.3_Missense_Mutation_p.T373M	NM_024967	NP_079243	Q9HAH1	ZN556_HUMAN	Homo sapiens zinc finger protein 556 (ZNF556), mRNA.	374					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(3)|skin(7)	31				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)		AAATGTGAAACGTGTGGGAAA	0.483													T	2878077	C	T	2878077	3	4	274	1	0	0	0	0	1	0	0	0	18088	536	19	1	1135	1	ZNF556	19	2878077	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08		2878077	56250906	90	19284											
ATCAY	85300	broad.mit.edu	37	chr19	3918804	3918804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttctctctgtccacagCgcgaggccccagccggagtt	5	9	11	16	4	2	0	0	0	2	0	5	2	3	1	4	2	2	2	4	2	0	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:3918804C>T	uc010xhz.2	+	12	1503	c.1020_splice	c.e12-1	p.S340_splice	ATCAY_uc002lyy.4_Splice_Site_p.S334_splice|ATCAY_uc010dts.3_Splice_Site_p.S91_splice			Q86WG3	ATCAY_HUMAN	Homo sapiens ataxia, cerebellar, Cayman type (ATCAY), mRNA.	334					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CTGTCCACAGCGCGAGGCCCC	0.612													T	3918804	C	T	3918804	2	4	274	1	0	0	0	0	0	0	0	1	1082	782	27	1		1	ATCAY	19	3918804	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	1040727	3918804	55210179	91	19285											
FUT3	2525	broad.mit.edu	37	chr19	5844141	5844141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgtaccgggacagcGtctccatcatggtccccttg	8	10	10	13	2	2	1	1	0	1	1	4	2	3	2	4	2	3	1	4	2	2	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:5844141G>A	uc002mdk.2	-	1	807	c.710C>T	c.(709-711)aCg>aTg	p.T237M	FUT3_uc002mdm.2_Missense_Mutation_p.T237M|FUT3_uc002mdj.2_Missense_Mutation_p.T237M|FUT3_uc002mdl.2_Missense_Mutation_p.T237M|FUT3_uc021unn.1_Missense_Mutation_p.T237M	NM_001097641	NP_001091110	P21217	FUT3_HUMAN	Homo sapiens fucosyltransferase 3 (galactoside 3(4)-L-fucosyltransferase, Lewis blood group) (FUT3), transcript variant 4, mRNA.	237					protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity	p.T237M(2)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						CCGGGACAGCGTCTCCATCAT	0.622													A	5844141	G	A	5844141	3	1	274	1	0	0	0	0	1	0	0	0	6157	1145	40	1	379	1	FUT3	19	5844141	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	1925337	5844141	53284842	92	19286											
TNFSF14	8740	broad.mit.edu	37	chr19	6669943	6669943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggccagcccggcccccatCagcaacagcaagagacccag	12	1	10	18	2	1	1	1	0	0	1	1	2	1	1	5	2	4	2	5	2	2	0	rs140577063		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:6669943C>T	uc002mfk.2	-	1	520	c.138G>A	c.(136-138)ctG>ctA	p.L46L	TNFSF14_uc002mfj.2_Intron	NM_003807	NP_003798	O43557	TNF14_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 14 (TNFSF14), transcript variant 1, mRNA.	46					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CGGCCCCCATCAGCAACAGCA	0.662													T	6669943	C	T	6669943	2	4	274	1	0	0	0	0	0	0	0	1	16407	813	29	2		2	TNFSF14	19	6669943	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	825802	6669943	52459040	93	19287											
MUC16	94025	broad.mit.edu	37	chr19	9047128	9047128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagttgtcctgggaacCattgtgttggtctctgcagg	5	14	15	7	0	1	0	0	0	1	0	3	2	2	2	2	4	2	3	2	4	1	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9047128C>G	uc002mkp.3	-	4	34707	c.34503G>C	c.(34501-34503)atG>atC	p.M11501I		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	11503	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						TCCTGGGAACCATTGTGTTGG	0.507													G	9047128	C	G	9047128	3	3	274	1	0	0	0	0	1	0	0	0	10049	594	21	4	9340	4	MUC16	19	9047128	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	2377185	9047128	50081855	94	19288											
MUC16	94025	broad.mit.edu	37	chr19	9082859	9082859	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgctctctgaggcatatcTagggtcccctgttcctgaag	7	12	10	12	0	2	2	0	2	2	0	5	2	4	2	3	2	1	3	3	2	3	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:9082859T>A	uc002mkp.3	-	0	9160	c.8956A>T	c.(8956-8958)Aga>Tga	p.R2986*		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	2987	Ser-rich.|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						GAGGCATATCTAGGGTCCCCT	0.498													A	9082859	T	A	9082859	4	1	274	1	0	0	0	0	0	1	0	0	10049	1530	53	5	34903	5	MUC16	19	9082859	Nonsense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08	35731	9082859	50046124	95	19289											
NOTCH3	4854	broad.mit.edu	37	chr19	15289676	15289676	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcccacccccaggaccCgggctaggacggcactggcc	7	3	13	18	2	1	0	1	0	0	0	1	2	1	2	5	5	1	2	5	5	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:15289676C>T	uc002nan.3	-	22	3871	c.3795G>A	c.(3793-3795)ccG>ccA	p.P1265P	NOTCH3_uc002nao.1_Silent_p.P1213P	NM_000435	NP_000426	Q9UM47	NOTC3_HUMAN	Homo sapiens notch 3 (NOTCH3), mRNA.	1265	EGF-like 32.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCCAGGACCCGGGCTAGGAC	0.647													T	15289676	C	T	15289676	2	4	274	1	0	0	0	0	0	0	0	1	10626	639	23	1		1	NOTCH3	19	15289676	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	6206817	15289676	43839307	96	19290											
IL12RB1	3594	broad.mit.edu	37	chr19	18180414	18180414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtggcaaggcccccGtcctggcccacaggctgcca	6	5	13	17	1	0	0	0	0	0	0	1	0	1	0	5	5	2	3	5	5	1	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:18180414G>A	uc002nhx.1	-	10	1302	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	IL12RB1_uc002nhw.1_Silent_p.D377D|IL12RB1_uc010xqb.1_Silent_p.D377D	NM_005535	NP_005526	P42701	I12R1_HUMAN	Homo sapiens interleukin 12 receptor, beta 1 (IL12RB1), transcript variant 1, mRNA.	377	Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CAAGGCCCCCGTCCTGGCCCA	0.627													A	18180414	G	A	18180414	2	1	274	1	0	0	0	0	0	0	0	1	7684	1136	40	1		1	IL12RB1	19	18180414	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08	2890738	18180414	40948569	97	19291											
ZNF91	7644	broad.mit.edu	37	chr19	23544856	23544856	+	Frame_Shift_Del	DEL	G	G	-																															aattctcttatgtttagcaaGggttgaagaatggctaaaag																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:23544856delG	uc002nre.3	-	3	1038	c.925delC	c.(925-927)cttfs	p.L309fs	ZNF91_uc010xrj.2_Frame_Shift_Del_p.L277fs	NM_003430	NP_003421	Q05481	ZNF91_HUMAN	Homo sapiens zinc finger protein 91 (ZNF91), mRNA.	309						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGTTTAGCAAGGGTTGAAGAA	0.403													-	23544856	G	-	23544856	7	5	274	1	0	1	0	1	0	0	0	0	18299	1000	35	0	2654	0	ZNF91	19	23544856	Frame_Shift_Del	DEL	G	TCGA-76-6656-01A-11D-1845-08	5364442	23544856	35584127	98	19292											
GPATCH1	55094	broad.mit.edu	37	chr19	33604693	33604693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaactttagttggcttacCaagagtgaagcgtgacaagt	12	12	10	7	1	1	3	1	2	0	1	1	3	1	3	1	1	3	2	1	1	6	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33604693C>T	uc002nug.1	+	13	2227	c.1913C>T	c.(1912-1914)cCa>cTa	p.P638L	GPATCH1_uc002nuh.1_Missense_Mutation_p.P15L	NM_018025	NP_060495	Q9BRR8	GPTC1_HUMAN	Homo sapiens G patch domain containing 1 (GPATCH1), mRNA.	638						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					GTTGGCTTACCAAGAGTGAAG	0.418													T	33604693	C	T	33604693	3	4	274	1	0	0	0	0	1	0	0	0	6644	594	21	2	1967	2	GPATCH1	19	33604693	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	10059837	33604693	25524290	99	19293											
WDR88	126248	broad.mit.edu	37	chr19	33666419	33666421	+	In_Frame_Del	DEL	TCA	TCA	-																															tgccagcagatacttcatcgTcatcatcatcatcggaaagg																										TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:33666419_33666421delTCA	uc002nui.3	+	10	1438_1440	c.1360_1362delTCA	c.(1360-1362)tcadel	p.S458del	TRNA_Thr_uc021usc.1_5'Flank	NM_173479	NP_775750	Q6ZMY6	WDR88_HUMAN	Homo sapiens WD repeat domain 88 (WDR88), mRNA.	458	Poly-Ser.									breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					TACTTCATCGTCATCATCATCAT	0.527													-	33666421	TCA	-	33666419	7	5	274	1	0	1	0	1	0	0	0	0	17437	1667	58	0	1402	0	WDR88	19	33666419	In_Frame_Del	DEL	TCA	TCGA-76-6656-01A-11D-1845-08	61726	33666419	25462564	100	19294											
CYP2F1	1572	broad.mit.edu	37	chr19	41622139	41622139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcctgctcctggctctcGtctgtctgctcctgacccta	3	14	7	17	1	3	1	0	1	3	0	7	1	6	1	4	1	3	3	4	1	2	2	rs142026539		TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:41622139G>A	uc002opu.1	+	1	102	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	CYP2F1_uc021uuv.1_Intron|CYP2F1_uc010xvv.1_Missense_Mutation_p.V16I|CYP2F1_uc002opv.1_Non-coding_Transcript	NM_000774	NP_000765	P24903	CP2F1_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily F, polypeptide 1 (CYP2F1), mRNA.	16					naphthalene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(11)|ovary(2)|skin(2)	29						CCTGGCTCTCGTCTGTCTGCT	0.577													A	41622139	G	A	41622139	3	1	274	1	0	0	0	0	1	0	0	0	4204	1145	40	1	48	1	CYP2F1	19	41622139	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	7955720	41622139	17506844	101	19295											
NLRP8	126205	broad.mit.edu	37	chr19	56477731	56477731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagatccccccggtgccGtctgcagtgtctcaggtgag	5	9	14	13	2	2	2	1	2	2	1	4	3	3	2	4	2	2	2	4	2	0	0	rs142437909	by1000genomes	TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr19:56477731G>A	uc002qmh.3	+	4	2437	c.2366G>A	c.(2365-2367)cGt>cAt	p.R789H	NLRP8_uc010etg.3_Missense_Mutation_p.R789H	NM_176811	NP_789781	Q86W28	NALP8_HUMAN	Homo sapiens NLR family, pyrin domain containing 8 (NLRP8), mRNA.	789						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCCCGGTGCCGTCTGCAGTGT	0.547													A	56477731	G	A	56477731	3	1	274	1	0	0	0	0	1	0	0	0	10559	1145	40	1	2384	1	NLRP8	19	56477731	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	14855592	56477731	2651252	102	19296											
R3HDML	140902	broad.mit.edu	37	chr20	42965819	42965819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctgctgcccagcaccGtgggcctggcaggcctgctc	3	7	13	18	1	0	0	0	0	0	0	1	0	0	0	6	3	5	4	6	3	0	0			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:42965819G>A	uc002xls.1	+	0	194	c.22G>A	c.(22-24)Gtg>Atg	p.V8M		NM_178491	NP_848586	Q9H3Y0	CRSPL_HUMAN	Homo sapiens R3H domain containing-like (R3HDML), mRNA.	8						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GCCCAGCACCGTGGGCCTGGC	0.647													A	42965819	G	A	42965819	3	1	274	1	0	0	0	0	1	0	0	0	12977	1145	40	1	24	1	R3HDML	20	42965819	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		42965819	20059701	103	19297											
SLC17A9	63910	broad.mit.edu	37	chr20	61595026	61595026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaggagaccttccccgaCgccaaggtgagtcgggggct	7	7	15	12	4	0	2	0	1	0	1	3	5	1	2	4	4	0	1	4	4	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr20:61595026C>T	uc002yea.4	+	6	1000	c.816C>T	c.(814-816)gaC>gaT	p.D272D	SLC17A9_uc002ydz.4_Silent_p.D266D|SLC17A9_uc011aap.1_Silent_p.D292D	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN	Homo sapiens solute carrier family 17, member 9 (SLC17A9), mRNA.	272					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CCTTCCCCGACGCCAAGGTGA	0.667													T	61595026	C	T	61595026	2	4	274	1	0	0	0	0	0	0	0	1	14518	535	19	1		1	SLC17A9	20	61595026	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	18629207	61595026	1430494	104	19298											
PWP2	5822	broad.mit.edu	37	chr21	45545899	45545899	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgttctaggaattttTgaaccgaagaaaaatgacag	14	13	9	5	1	1	3	0	2	1	1	1	5	1	4	1	1	2	2	1	1	6	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr21:45545899T>C	uc002zeb.3	+	15	2063	c.1973T>C	c.(1972-1974)tTg>tCg	p.L658S		NM_005049	NP_005040	Q15269	PWP2_HUMAN	Homo sapiens PWP2 periodic tryptophan protein homolog (yeast) (PWP2), mRNA.	658						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TAGGAATTTTTGAACCGAAGA	0.537													C	45545899	T	C	45545899	3	2	274	1	0	0	0	0	1	0	0	0	12932	1821	63	3	2035	3	PWP2	21	45545899	Missense_Mutation	SNP	T	TCGA-76-6656-01A-11D-1845-08		45545899	2583996	105	19299											
ZNF280B	140883	broad.mit.edu	37	chr22	22843649	22843649	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgagctcagcatcttcGtcatctacttgtttggtttc	8	16	8	9	1	4	2	2	1	2	1	6	2	4	2	0	1	3	4	0	1	2	5			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:22843649G>A	uc002zwc.1	-	3	851	c.75C>T	c.(73-75)gaC>gaT	p.D25D	abParts_uc021wml.1_Intron|abParts_uc021wmm.1_Intron|ZNF280B_uc021wmn.1_Silent_p.D25D	NM_080764	NP_542942	Q86YH2	Z280B_HUMAN	Homo sapiens zinc finger protein 280B (ZNF280B), mRNA.	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		CAGCATCTTCGTCATCTACTT	0.378													A	22843649	G	A	22843649	2	1	274	1	0	0	0	0	0	0	0	1	17916	1136	40	1		1	ZNF280B	22	22843649	Silent	SNP	G	TCGA-76-6656-01A-11D-1845-08		22843649	28460917	106	19300											
SCUBE1	80274	broad.mit.edu	37	chr22	43603579	43603579	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctccgaggcgtacaggcgCccatcgcgcacgatgtcctc	6	8	11	16	6	1	0	0	0	1	0	5	2	2	0	3	2	1	2	3	2	1	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:43603579C>T	uc003bdt.2	-	20	2902	c.2775G>A	c.(2773-2775)ggG>ggA	p.G925G		NM_173050	NP_766638	Q8IWY4	SCUB1_HUMAN	Homo sapiens signal peptide, CUB domain, EGF-like 1 (SCUBE1), mRNA.	925					adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CGTACAGGCGCCCATCGCGCA	0.597													T	43603579	C	T	43603579	2	4	274	1	0	0	0	0	0	0	0	1	14037	726	26	2		2	SCUBE1	22	43603579	Silent	SNP	C	TCGA-76-6656-01A-11D-1845-08	20759930	43603579	7700987	107	19301											
MOV10L1	54456	broad.mit.edu	37	chr22	50588117	50588117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggaatgcctcattcctctgGggctgatgtcggacatcagt	7	11	12	11	2	3	1	2	1	1	0	5	3	4	3	2	4	1	1	2	4	1	1			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chr22:50588117G>A	uc003bjj.3	+	19	2784	c.2701G>A	c.(2701-2703)Ggg>Agg	p.G901R	MOV10L1_uc003bjk.4_Missense_Mutation_p.G901R|MOV10L1_uc011arp.2_Missense_Mutation_p.G881R|MOV10L1_uc003bjl.3_Missense_Mutation_p.G28R|MOV10L1_uc003bjm.1_5'UTR	NM_018995	NP_061868	Q9BXT6	M10L1_HUMAN	Homo sapiens Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse) (MOV10L1), transcript variant 1, mRNA.	901					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		CATTCCTCTGGGGCTGATGTC	0.562											OREG0026674	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50588117	G	A	50588117	3	1	274	1	0	0	0	0	1	0	0	0	9795	1232	43	2	2832	2	MOV10L1	22	50588117	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08	6984538	50588117	716449	108	19302											
KDM6A	7403	broad.mit.edu	37	chrX	44929255	44929255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctctctgccttgttgatGggaaaagccaataacaatgt	12	11	9	9	0	1	1	0	1	1	0	2	2	1	2	2	1	4	2	2	1	5	3			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:44929255G>A	uc011mkz.2	+	17	2886	c.2511G>A	c.(2509-2511)atG>atA	p.M837I	KDM6A_uc022bvi.1_Missense_Mutation_p.M455I|KDM6A_uc010nhk.2_Missense_Mutation_p.M751I|KDM6A_uc004dge.4_Missense_Mutation_p.M785I|KDM6A_uc011mla.2_Missense_Mutation_p.M740I|KDM6A_uc011mlb.2_Missense_Mutation_p.M792I|KDM6A_uc011mlc.2_Missense_Mutation_p.M489I|KDM6A_uc022bvj.1_Missense_Mutation_p.M706I|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Missense_Mutation_p.M424I	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	785					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CCTTGTTGATGGGAAAAGCCA	0.448			"D, N, F, S"		"renal, oesophageal SCC, MM"								A	44929255	G	A	44929255	3	1	274	1	0	0	0	0	1	0	0	0	8195	1348	47	2	2421	2	KDM6A	23	44929255	Missense_Mutation	SNP	G	TCGA-76-6656-01A-11D-1845-08		44929255	110341305	109	19303											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011554	105011554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctactcaacggacagctacCccttaataacaccctgaaag	14	7	6	14	1	1	1	1	1	0	0	1	2	1	2	3	1	5	2	3	1	6	4			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:105011554C>T	uc004elz.1	+	10	2717	c.1961C>T	c.(1960-1962)cCc>cTc	p.P654L		NM_017416	NP_059112	Q9NP60	IRPL2_HUMAN	Homo sapiens interleukin 1 receptor accessory protein-like 2 (IL1RAPL2), mRNA.	654					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GGACAGCTACCCCTTAATAAC	0.448													T	105011554	C	T	105011554	3	4	274	1	0	0	0	0	1	0	0	0	7720	623	22	2	1999	2	IL1RAPL2	23	105011554	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	60082299	105011554	50259006	110	19304											
MAGEC2	51438	broad.mit.edu	37	chrX	141290669	141290669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcactcagaaaaggagaCgttgctggacatgacactga	14	8	10	9	1	2	4	2	2	0	2	2	6	2	5	0	2	1	2	0	2	2	2			TCGA-76-6656-01A-11D-1845-08	TCGA-76-6656-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe66f11a-e03d-49c5-befe-db74ef55ce61	fb2cda88-4b45-4173-8340-49f54a899bc7	g.chrX:141290669C>T	uc022cfj.1	-	0	1105	c.1105G>A	c.(1105-1107)Gtc>Atc	p.V369I	MAGEC2_uc004fbu.2_Missense_Mutation_p.V369I	NM_016249	NP_057333	Q9UBF1	MAGC2_HUMAN	Homo sapiens melanoma antigen family C, 2 (MAGEC2), mRNA.	369						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GAAAAGGAGACGTTGCTGGAC	0.502										HNSCC(46;0.14)			T	141290669	C	T	141290669	3	4	274	1	0	0	0	0	1	0	0	0	9256	536	19	1	20	1	MAGEC2	23	141290669	Missense_Mutation	SNP	C	TCGA-76-6656-01A-11D-1845-08	36279115	141290669	13979891	111	19305											
CHD5	26038	broad.mit.edu	37	chr1	6209438	6209438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacacctcacagtaatcCtggtggtctgtctcatagcc	8	11	9	13	0	3	0	2	0	2	0	5	0	4	0	3	3	1	2	3	3	2	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:6209438C>T	uc001amb.2	-	7	1140	c.1029G>A	c.(1027-1029)caG>caA	p.Q343Q	CHD5_uc001amc.1_5'Flank	NM_015557	NP_056372	Q8TDI0	CHD5_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 5 (CHD5), mRNA.	343					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		CACAGTAATCCTGGTGGTCTG	0.577													T	6209438	C	T	6209438	2	4	275	1	0	0	0	0	0	0	0	1	3358	680	24	2		2	CHD5	1	6209438	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08		6209438	243041183	1	19306											
MACF1	23499	broad.mit.edu	37	chr1	39763324	39763324	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacgagagctggagtcattCttgaggaacctccaagattc	11	9	11	10	1	2	3	1	1	1	2	4	6	3	5	2	2	2	2	2	2	2	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:39763324C>G	uc021olt.1	+	19	2455	c.2403C>G	c.(2401-2403)ttC>ttG	p.F801L	MACF1_uc021ols.1_Missense_Mutation_p.F801L|MACF1_uc001cdc.2_Missense_Mutation_p.F801L|MACF1_uc001cda.1_Missense_Mutation_p.F709L|MACF1_uc009vvq.1_5'Flank|MACF1_uc001cdb.1_5'Flank	NM_012090	NP_036222	Q9UPN3	MACF1_HUMAN	Homo sapiens microtubule-actin crosslinking factor 1 (MACF1), transcript variant 1, mRNA.	801					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGTCATTCTTGAGGAACC	0.443													G	39763324	C	G	39763324	3	3	275	1	0	0	0	0	1	0	0	0	9215	912	32	4	2481	4	MACF1	1	39763324	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	33553886	39763324	209487297	2	19307											
MPL	4352	broad.mit.edu	37	chr1	43812465	43812465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgacatccctgtagtgCgcctccccaccccaaacttg	7	9	7	18	1	0	1	0	1	0	0	2	1	2	1	6	0	3	2	6	0	2	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:43812465C>T	uc001ciw.3	+	7	1213	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	MPL_uc001civ.3_Missense_Mutation_p.R390C|MPL_uc009vwr.3_Missense_Mutation_p.R383C	NM_005373	NP_005364	P40238	TPOR_HUMAN	Homo sapiens myeloproliferative leukemia virus oncogene (MPL), mRNA.	390					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CCCTGTAGTGCGCCTCCCCAC	0.582			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						T	43812465	C	T	43812465	3	4	275	1	0	0	0	0	1	0	0	0	9806	768	27	1	1198	1	MPL	1	43812465	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	4049141	43812465	205438156	3	19308											
EPS8L3	79574	broad.mit.edu	37	chr1	110293381	110293381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcttatgcgaagtagctgGctccccgtcagggacccaag	8	8	13	12	2	2	0	1	0	1	0	3	2	3	1	3	3	2	3	3	3	4	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:110293381G>A	uc001dyr.2	-	17	1896	c.1671C>T	c.(1669-1671)agC>agT	p.S557S	EPS8L3_uc001dys.2_Silent_p.S527S|EPS8L3_uc001dyq.2_Silent_p.S558S|EPS8L3_uc009wfm.2_Silent_p.S494S	NM_133181	NP_573444	Q8TE67	ES8L3_HUMAN	Homo sapiens EPS8-like 3 (EPS8L3), transcript variant 2, mRNA.	557						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		GAAGTAGCTGGCTCCCCGTCA	0.607													A	110293381	G	A	110293381	2	1	275	1	0	0	0	0	0	0	0	1	5238	1194	42	2		2	EPS8L3	1	110293381	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	66480916	110293381	138957240	4	19309											
IGSF3	3321	broad.mit.edu	37	chr1	117150591	117150591	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactatgatggggatgtTcttgggacgcttgctctcct	6	13	14	8	1	2	1	0	1	2	0	3	5	2	4	1	4	1	3	1	4	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:117150591T>A	uc001egq.1	-	4	1900	c.1195A>T	c.(1195-1197)Aac>Tac	p.N399Y	IGSF3_uc001egr.1_Missense_Mutation_p.N399Y|IGSF3_uc001egs.1_Missense_Mutation_p.N72Y	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	399						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		ATGGGGATGTTCTTGGGACGC	0.517													A	117150591	T	A	117150591	3	1	275	1	0	0	0	0	1	0	0	0	7659	1783	62	5	2481	5	IGSF3	1	117150591	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	6857210	117150591	132100030	5	19310											
LCE1F	353137	broad.mit.edu	37	chr1	152749094	152749094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagccaccacagacggCgtaggtcccaccgccacaga	10	3	11	17	3	0	3	0	1	0	2	1	3	1	3	6	2	1	1	6	2	1	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:152749094C>T	uc010pdv.2	+	0	247	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C		NM_178354	NP_848131	Q5T754	LCE1F_HUMAN	Homo sapiens late cornified envelope 1F (LCE1F), mRNA.	83	Poly-Arg.				keratinization					kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCACAGACGGCGTAGGTCCCA	0.701													T	152749094	C	T	152749094	3	4	275	1	0	0	0	0	1	0	0	0	8723	768	27	1	249	1	LCE1F	1	152749094	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	35598503	152749094	96501527	6	19311											
OR10X1	128367	broad.mit.edu	37	chr1	158549258	158549258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagtggatatcttagaggGttacagatggccaggaagcg	12	8	15	6	1	1	2	0	0	1	2	1	4	1	4	1	4	3	2	1	4	4	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:158549258G>A	uc010pin.2	-	0	432	c.432C>T	c.(430-432)aaC>aaT	p.N144N		NM_001004477	NP_001004477	Q8NGY0	O10X1_HUMAN	Homo sapiens olfactory receptor, family 10, subfamily X, member 1 (OR10X1), mRNA.	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					ATCTTAGAGGGTTACAGATGG	0.463													A	158549258	G	A	158549258	2	1	275	1	0	0	0	0	0	0	0	1	10998	1252	44	2		2	OR10X1	1	158549258	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	5800164	158549258	90701363	7	19312											
TNFSF18	8995	broad.mit.edu	37	chr1	173010834	173010834	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttcagaagatgccatttgCcattttgagggtaatggtcc	9	13	12	7	0	1	3	1	1	0	2	2	3	2	3	3	3	2	2	3	3	2	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:173010834C>T	uc001giu.2	-	2	274	c.273G>A	c.(271-273)tgG>tgA	p.W91*		NM_005092	NP_005083	Q9UNG2	TNF18_HUMAN	Homo sapiens tumor necrosis factor (ligand) superfamily, member 18 (TNFSF18), mRNA.	91					anti-apoptosis|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	9						ATGCCATTTGCCATTTTGAGG	0.353													T	173010834	C	T	173010834	4	4	275	1	0	0	0	0	0	1	0	0	16409	740	26	2	330	2	TNFSF18	1	173010834	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	14461576	173010834	76239787	8	19313											
RASAL2	9462	broad.mit.edu	37	chr1	178427055	178427055	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctatacgcttgaccggAagccagctttccataaccca	10	9	8	14	2	0	1	0	1	0	0	1	2	1	2	5	1	5	2	5	1	4	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:178427055A>T	uc001glq.3	+	13	3392	c.2628A>T	c.(2626-2628)ggA>ggT	p.G876G	RASAL2_uc001glr.3_Silent_p.G735G|RASAL2_uc009wxc.3_Silent_p.G249G	NM_170692	NP_733793	Q9UJF2	NGAP_HUMAN	Homo sapiens RAS protein activator like 2 (RASAL2), transcript variant 2, mRNA.	735					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						GCTTGACCGGAAGCCAGCTTT	0.572													T	178427055	A	T	178427055	2	4	275	1	0	0	0	0	0	0	0	1	13152	233	9	5		5	RASAL2	1	178427055	Silent	SNP	A	TCGA-76-6657-01A-11D-1845-08	5416221	178427055	70823566	9	19314											
OR2T3	343173	broad.mit.edu	37	chr1	248636975	248636975	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgggatccagatgttcttCtacctgaccctggctggagc	6	12	12	11	0	2	2	0	1	2	1	3	4	3	4	3	3	2	2	3	3	1	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr1:248636975C>T	uc001iel.1	+	0	324	c.324C>T	c.(322-324)ttC>ttT	p.F108F		NM_001005495	NP_001005495	Q8NH03	OR2T3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 3 (OR2T3), mRNA.	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F107L(1)		breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTTCTTCTACCTGACCC	0.537													T	248636975	C	T	248636975	2	4	275	1	0	0	0	0	0	0	0	1	11099	912	32	2		2	OR2T3	1	248636975	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	70209920	248636975	613646	10	19315											
MSH6	2956	broad.mit.edu	37	chr2	48023188	48023190	+	In_Frame_Del	DEL	GAA	GAA	-																															agccctcagagccagaagagGaagaagagatggaggtggga																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:48023188_48023190delGAA	uc002rwd.4	+	2	765_767	c.613_615delGAA	c.(613-615)gaadel	p.E207del	MSH6_uc002rwc.2_In_Frame_Del_p.E207del|MSH6_uc010fbj.3_Intron|MSH6_uc010yoj.2_5'UTR	NM_000179	NP_000170	P52701	MSH6_HUMAN	Homo sapiens mutS homolog 6 (E. coli) (MSH6), mRNA.	207	Poly-Glu.				determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCAGAAGAGGAAGAAGAGATGG	0.438			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				-	48023190	GAA	-	48023188	7	5	275	1	0	1	0	1	0	0	0	0	9950	1175	41	0	623	0	MSH6	2	48023188	In_Frame_Del	DEL	GAA	TCGA-76-6657-01A-11D-1845-08		48023188	195176185	11	19316											
SCN3A	6328	broad.mit.edu	37	chr2	165952115	165952115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgataaagatgacaaagtatAaatacatgtacagattttct	18	13	6	4	0	1	4	0	2	1	2	1	4	1	4	0	0	2	2	0	0	8	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:165952115A>G	uc002ucx.3	-	24	4829	c.4337T>C	c.(4336-4338)tTa>tCa	p.L1446S	SCN3A_uc010zcy.2_5'Flank|SCN3A_uc002ucy.3_Missense_Mutation_p.L1397S|SCN3A_uc002ucz.3_Missense_Mutation_p.L1397S	NM_006922	NP_008853	Q9NY46	SCN3A_HUMAN	Homo sapiens sodium channel, voltage-gated, type III, alpha subunit (SCN3A), transcript variant 1, mRNA.	1446						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GACAAAGTATAAATACATGTA	0.269													G	165952115	A	G	165952115	3	3	275	1	0	0	0	0	1	0	0	0	14011	372	13	3	1681	3	SCN3A	2	165952115	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	117928927	165952115	77247258	12	19317											
METTL5	29081	broad.mit.edu	37	chr2	170677785	170677785	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaaatccaacacacaaccTataaatacaaaacacataca	22	6	1	12	0	1	0	1	0	0	0	2	0	2	0	2	0	5	0	2	0	10	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:170677785T>C	uc002ufn.3	-	3	471	c.225_splice	c.e3-1	p.G75_splice	METTL5_uc002ufo.3_Splice_Site_p.G75_splice|METTL5_uc002ufp.3_Splice_Site_p.G75_splice	NM_014168	NP_054887	Q9NRN9	METL5_HUMAN	Homo sapiens methyltransferase like 5 (METTL5), mRNA.	75							methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|large_intestine(5)|lung(1)|prostate(1)	10						ACACACAACCTATAAATACAA	0.303													C	170677785	T	C	170677785	5	2	275	1	0	0	0	0	0	0	1	0	9578	1536	53	3	426	3	METTL5	2	170677785	Splice_Site	SNP	T	TCGA-76-6657-01A-11D-1845-08	4725670	170677785	72521588	13	19318											
CHRNG	1146	broad.mit.edu	37	chr2	233404776	233404776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccccaacctgcggcccGcggaacgagactcggatgtg	9	4	13	15	6	0	1	0	0	0	1	1	5	0	3	4	3	3	0	4	3	2	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr2:233404776G>A	uc002vsx.1	+	1	151	c.130G>A	c.(130-132)Gcg>Acg	p.A44T	CHRNG_uc010fyd.3_Missense_Mutation_p.A44T|CHRNG_uc010fye.1_Missense_Mutation_p.A44T	NM_005199	NP_005190	P07510	ACHG_HUMAN	Homo sapiens cholinergic receptor, nicotinic, gamma (CHRNG), mRNA.	44					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		CCTGCGGCCCGCGGAACGAGA	0.632													A	233404776	G	A	233404776	3	1	275	1	0	0	0	0	1	0	0	0	3426	1087	38	1	136	1	CHRNG	2	233404776	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	62726991	233404776	9794597	14	19319											
UGT2A1	10941	broad.mit.edu	37	chr4	70455172	70455172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgaccaaaaatatagccGttgtcacacagaccagcaag	16	7	8	10	1	1	2	1	1	0	1	1	2	1	2	3	0	2	3	3	0	6	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:70455172G>A	uc011caq.2	-	6	2116	c.2000C>T	c.(1999-2001)aCg>aTg	p.T667M	UGT2A1_uc010ihu.3_Missense_Mutation_p.T501M|UGT2A1_uc003hem.4_Missense_Mutation_p.T501M|UGT2A1_uc010ihs.3_Missense_Mutation_p.T510M|UGT2A1_uc021xox.1_Missense_Mutation_p.T466M|UGT2A1_uc010iht.3_Missense_Mutation_p.T457M	NM_001252274	NP_001239203	Q9Y4X1	UD2A1_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus (UGT2A1), transcript variant 2, mRNA.	501					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AAATATAGCCGTTGTCACACA	0.413													A	70455172	G	A	70455172	3	1	275	1	0	0	0	0	1	0	0	0	17055	1145	40	1	85	1	UGT2A1	4	70455172	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		70455172	120699104	15	19320											
FGA	2243	broad.mit.edu	37	chr4	155507683	155507683	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtacttccaggtccagAgctcccagagttccagcttc	8	10	8	15	0	0	2	0	0	0	2	6	2	5	2	5	1	3	4	5	1	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:155507683A>T	uc003iod.1	-	4	956	c.898T>A	c.(898-900)Tct>Act	p.S300T	FGA_uc003ioe.1_Missense_Mutation_p.S300T|FGA_uc003iof.1_Intron	NM_000508	NP_000499	P02671	FIBA_HUMAN	Homo sapiens fibrinogen alpha chain (FGA), transcript variant alpha-E, mRNA.	300					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCAGGTCCAGAGCTCCCAGAG	0.562													T	155507683	A	T	155507683	3	4	275	1	0	0	0	0	1	0	0	0	5879	304	11	5	1754	5	FGA	4	155507683	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	85052511	155507683	35646593	16	19321											
STOX2	56977	broad.mit.edu	37	chr4	184938294	184938294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattgttgaaagtaaccgtCgtcagaaccccgctttgagc	10	10	10	11	3	1	3	1	2	0	1	2	3	1	3	3	0	3	4	3	0	3	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr4:184938294C>T	uc003ivz.1	+	3	4073	c.2638C>T	c.(2638-2640)Cgt>Tgt	p.R880C	AK001394_uc003iwb.1_5'Flank|STOX2_uc003iwa.1_3'UTR	NM_020225	NP_064610	Q9P2F5	STOX2_HUMAN	Homo sapiens storkhead box 2 (STOX2), mRNA.	880					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		AAGTAACCGTCGTCAGAACCC	0.502													T	184938294	C	T	184938294	3	4	275	1	0	0	0	0	1	0	0	0	15416	884	31	1	2652	1	STOX2	4	184938294	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	29430611	184938294	6215982	17	19322											
DNAH5	1767	broad.mit.edu	37	chr5	13885213	13885213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatgagagagtaactcGcgggcttcttcccctaacat	11	11	9	10	2	1	3	0	2	1	1	3	4	2	3	2	1	2	2	2	1	3	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:13885213G>A	uc003jfd.2	-	18	2910	c.2868C>T	c.(2866-2868)cgC>cgT	p.R956R		NM_001369	NP_001360	Q8TE73	DYH5_HUMAN	Homo sapiens dynein, axonemal, heavy chain 5 (DNAH5), mRNA.	956	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R956R(4)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AGAGTAACTCGCGGGCTTCTT	0.443									Kartagener syndrome				A	13885213	G	A	13885213	2	1	275	1	0	0	0	0	0	0	0	1	4643	1074	38	1		1	DNAH5	5	13885213	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		13885213	167030047	18	19323											
PIK3R1	5295	broad.mit.edu	37	chr5	67522740	67522741	+	Frame_Shift_Ins	INS	-	-	A																															acgtagaatatattggaaggINSaaaaaaatctcgcctcccac																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:67522740_67522741insA	uc003jva.3	+	1	817_818	c.237_238insA	c.(235-240)aggaaafs	p.R79fs		NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	79	SH3.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ATATTGGAAGGAAAAAAATCTC	0.49			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67522741	-	A	67522740	7	5	275	1	0	1	1	0	0	0	0	0	11995	1165	41	0	239	0	PIK3R1	5	67522740	Frame_Shift_Ins	INS	-	TCGA-76-6657-01A-11D-1845-08	53637527	67522740	113392520	19	19324											
GPR98	84059	broad.mit.edu	37	chr5	89992775	89992775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaccaaaaagacagtcaTtttaaccatcttggatgact	16	11	6	8	0	2	3	1	2	1	1	2	4	2	4	2	1	2	0	2	1	4	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:89992775T>C	uc003kju.3	+	33	8063	c.7967T>C	c.(7966-7968)aTt>aCt	p.I2656T	GPR98_uc003kjt.3_Missense_Mutation_p.I362T|GPR98_uc003kjv.3_Missense_Mutation_p.I256T	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2656	Calx-beta 18.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAGACAGTCATTTTAACCATC	0.368													C	89992775	T	C	89992775	3	2	275	1	0	0	0	0	1	0	0	0	6776	1493	52	3	8101	3	GPR98	5	89992775	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	22470035	89992775	90922485	20	19325											
ARAP3	64411	broad.mit.edu	37	chr5	141049346	141049346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaatgctggatcctccccCcagcgaggatgagctcaaag	12	6	10	13	1	1	1	1	1	0	0	3	4	3	3	4	2	3	2	4	2	3	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:141049346C>T	uc003llm.3	-	15	2360	c.2282G>A	c.(2281-2283)gGg>gAg	p.G761E	ARAP3_uc011dbe.2_Missense_Mutation_p.G423E|ARAP3_uc003lln.3_Missense_Mutation_p.G663E	NM_022481	NP_071926	Q8WWN8	ARAP3_HUMAN	Homo sapiens ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3 (ARAP3), mRNA.	761					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GATCCTCCCCCCAGCGAGGAT	0.587													T	141049346	C	T	141049346	3	4	275	1	0	0	0	0	1	0	0	0	843	623	22	2	2424	2	ARAP3	5	141049346	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	51056571	141049346	39865914	21	19326											
FAT2	2196	broad.mit.edu	37	chr5	150920247	150920247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttggctgtatgctcgcGgtccagggtcttccttgagg	4	13	14	10	2	1	1	0	1	1	0	4	1	3	1	2	4	2	4	2	4	2	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr5:150920247G>A	uc003lue.4	-	9	8933	c.8920C>T	c.(8920-8922)Cgc>Tgc	p.R2974C		NM_001447	NP_001438	Q9NYQ8	FAT2_HUMAN	Homo sapiens FAT tumor suppressor homolog 2 (Drosophila) (FAT2), mRNA.	2974	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTATGCTCGCGGTCCAGGGTC	0.527													A	150920247	G	A	150920247	3	1	275	1	0	0	0	0	1	0	0	0	5739	1116	39	1	4185	1	FAT2	5	150920247	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	9870901	150920247	29995013	22	19327											
C6orf221	154288	broad.mit.edu	37	chr6	74073351	74073351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtcttcaatagaagtccGggaggccgggacgcagcgtt	8	7	16	10	5	2	1	1	0	1	1	3	3	3	3	2	4	1	2	2	4	3	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:74073351G>A	uc003pgt.4	+	2	475	c.422G>A	c.(421-423)cGg>cAg	p.R141Q		NM_001017361	NP_001017361	Q587J8	ECAT1_HUMAN	Homo sapiens chromosome 6 open reading frame 221 (C6orf221), mRNA.	141										NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|stomach(1)	19						ATAGAAGTCCGGGAGGCCGGG	0.657													A	74073351	G	A	74073351	3	1	275	1	0	0	0	0	1	0	0	0	2377	1116	39	1	432	1	C6orf221	6	74073351	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		74073351	97041716	23	19328											
FYN	2534	broad.mit.edu	37	chr6	112015863	112015863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaagatttggtaattTcagagctcttccttctccat	9	15	6	11	0	3	2	1	0	2	2	6	2	5	2	3	1	1	2	3	1	2	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:112015863T>C	uc003pvj.3	-	9	1427	c.1087A>G	c.(1087-1089)Aaa>Gaa	p.K363E	FYN_uc003pvi.3_Missense_Mutation_p.K308E|FYN_uc003pvk.3_Missense_Mutation_p.K363E|FYN_uc003pvh.3_Missense_Mutation_p.K360E|FYN_uc010kdy.1_Missense_Mutation_p.K54E	NM_002037	NP_002028	P06241	FYN_HUMAN	Homo sapiens FYN oncogene related to SRC, FGR, YES (FYN), transcript variant 1, mRNA.	363	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	TTTGGTAATTTCAGAGCTCTT	0.383													C	112015863	T	C	112015863	3	2	275	1	0	0	0	0	1	0	0	0	6178	1792	62	3	542	3	FYN	6	112015863	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	37942512	112015863	59099204	24	19329											
CNKSR3	154043	broad.mit.edu	37	chr6	154831213	154831213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctctagtccagtccacCacttgtttggggctccactt	6	12	8	15	0	1	0	0	0	1	0	4	0	4	0	5	2	0	3	5	2	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr6:154831213C>T	uc021zhc.1	-	0	541	c.36G>A	c.(34-36)gtG>gtA	p.V12V	CNKSR3_uc003qpy.3_Silent_p.V12V	NM_173515	NP_775786	Q6P9H4	CNKR3_HUMAN	Homo sapiens CNKSR family member 3 (CNKSR3), mRNA.	12	SAM.				negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		TCCAGTCCACCACTTGTTTGG	0.652													T	154831213	C	T	154831213	2	4	275	1	0	0	0	0	0	0	0	1	3639	581	21	2		2	CNKSR3	6	154831213	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	42815350	154831213	16283854	25	19330											
SUMF2	25870	broad.mit.edu	37	chr7	56144570	56144570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccagccaaaccgcacCaacctgtggcaggtaagacc	11	6	10	14	1	0	1	0	0	0	1	1	1	1	1	6	3	3	4	6	3	3	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:56144570C>T	uc011kcw.2	+	5	667	c.636C>T	c.(634-636)acC>acT	p.T212T	PSPH_uc003trj.3_Intron|SUMF2_uc011kcv.2_Non-coding_Transcript|SUMF2_uc003trt.3_Silent_p.T105T|SUMF2_uc003trv.3_Silent_p.T212T|SUMF2_uc011kcy.2_Silent_p.T197T|SUMF2_uc011kcz.2_Intron|SUMF2_uc003trx.3_Non-coding_Transcript|SUMF2_uc011kda.2_5'UTR|SUMF2_uc011kcx.2_Intron	NM_015411	NP_001139805	Q8NBJ7	SUMF2_HUMAN	Homo sapiens sulfatase modifying factor 2 (SUMF2), transcript variant 2, mRNA.	193						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAACCGCACCAACCTGTGGC	0.567													T	56144570	C	T	56144570	2	4	275	1	0	0	0	0	0	0	0	1	15482	581	21	2		2	SUMF2	7	56144570	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08		56144570	102994093	26	19331											
CACNA2D1	781	broad.mit.edu	37	chr7	81611940	81611940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatctggcttcagggtttccGaatctgcaaagataatgtta	11	14	9	7	1	3	1	1	0	2	1	4	2	4	1	1	2	1	4	1	2	5	5	rs149510838		TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr7:81611940G>A	uc003uhr.1	-	23	2154	c.1898C>T	c.(1897-1899)tCg>tTg	p.S633L		NM_000722	NP_000713	P54289	CA2D1_HUMAN	Homo sapiens calcium channel, voltage-dependent, alpha 2/delta subunit 1 (CACNA2D1), mRNA.	645						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CAGGGTTTCCGAATCTGCAAA	0.333													A	81611940	G	A	81611940	3	1	275	1	0	0	0	0	1	0	0	0	2574	1059	37	1	1441	1	CACNA2D1	7	81611940	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	25467370	81611940	77526723	27	19332											
UBR5	51366	broad.mit.edu	37	chr8	103340098	103340099	+	Frame_Shift_Ins	INS	-	-	A																															atttagaagccacagaacttINSaaagtttcatccacccatgt																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:103340098_103340099insA	uc003ykr.2	-	11	1807_1808	c.1352_1353insT	c.(1351-1353)ttafs	p.L451fs	UBR5_uc003yks.2_Frame_Shift_Ins_p.L451fs	NM_015902	NP_056986	O95071	UBR5_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 5 (UBR5), mRNA.	451					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)			CCACAGAACTTAAAGTTTCATC	0.376													A	103340099	-	A	103340098	7	5	275	1	0	1	1	0	0	0	0	0	17007	1751	61	0	7238	0	UBR5	8	103340098	Frame_Shift_Ins	INS	-	TCGA-76-6657-01A-11D-1845-08		103340098	43023924	28	19333											
CTHRC1	115908	broad.mit.edu	37	chr8	104388028	104388028	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagacgggagccctggggcCaatggcattccgggtacacc	8	5	15	13	3	0	1	0	0	0	1	1	3	1	2	4	5	2	2	4	5	2	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:104388028C>T	uc003ylk.3	+	1	312	c.213C>T	c.(211-213)gcC>gcT	p.A71A	CTHRC1_uc011lhq.1_Silent_p.A71A	NM_138455	NP_612464	Q96CG8	CTHR1_HUMAN	Homo sapiens collagen triple helix repeat containing 1 (CTHRC1), transcript variant 1, mRNA.	71	Collagen-like.					collagen		p.A71A(2)		endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			GCCCTGGGGCCAATGGCATTC	0.522													T	104388028	C	T	104388028	2	4	275	1	0	0	0	0	0	0	0	1	4043	581	21	2		2	CTHRC1	8	104388028	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	1047930	104388028	41975994	29	19334											
EPPK1	83481	broad.mit.edu	37	chr8	144940918	144940918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaaccacaggtgtttgttGctggtttcctgcttctcgat	5	16	11	9	1	1	0	0	0	1	0	3	2	2	1	2	3	3	5	2	3	1	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr8:144940918G>T	uc003zaa.1	-	0	6517	c.6504C>A	c.(6502-6504)agC>agA	p.S2168R		NM_031308	NP_112598	P58107	EPIPL_HUMAN	Homo sapiens epiplakin 1 (EPPK1), mRNA.	2168						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGTGTTTGTTGCTGGTTTCCT	0.507													T	144940918	G	T	144940918	3	4	275	1	0	0	0	0	1	0	0	0	5231	1310	46	4	762	4	EPPK1	8	144940918	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	40552890	144940918	1423104	30	19335											
PTEN	5728	broad.mit.edu	37	chr10	89692852	89692856	+	Frame_Shift_Del	DEL	AAGTG	AAGTG	-																															gaagatcttgaccaatggctAagtgaagatgacaatcatgt																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:89692852_89692856delAAGTG	uc001kfb.3	+	4	1368_1372	c.336_340delAAGTG	c.(334-342)ctaagtgaafs	p.L112fs	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	112	Phosphatase tensin-type.		L -> P (in CD and LDD; loss of phosphatase activity towards Ins(1,3,4,5)P4).|L -> R (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L112V(5)|p.?(5)|p.R55fs*1(5)|p.W111R(3)|p.L112fs*3(2)|p.L112P(2)|p.E114*(2)|p.Y27fs*1(2)|p.S113fs*9(2)|p.S113R(2)|p.W111*(2)|p.S113fs*20(2)|p.Y27_N212>Y(2)|p.L112Q(2)|p.L112R(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACCAATGGCTAAGTGAAGATGACAA	0.376		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89692856	AAGTG	-	89692852	7	5	275	1	0	1	0	1	0	0	0	0	12823	349	13	0	354	0	PTEN	10	89692852	Frame_Shift_Del	DEL	AAGTG	TCGA-76-6657-01A-11D-1845-08		89692852	45841895	31	19336											
CYP2C8	1558	broad.mit.edu	37	chr10	96827103	96827103	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccatctctttccattgcTggaaatgattcctaataaaa	12	15	4	10	0	1	1	0	1	1	0	5	2	4	2	3	1	1	1	3	1	4	6			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:96827103T>G	uc001kkb.3	-	2	438	c.343A>C	c.(343-345)Agc>Cgc	p.S115R	CYP2C8_uc010qoa.2_Missense_Mutation_p.S45R|CYP2C8_uc010qoc.2_Missense_Mutation_p.S13R|CYP2C8_uc001kkc.3_Non-coding_Transcript|CYP2C8_uc010qob.2_Missense_Mutation_p.S29R|CYP2C8_uc021pwl.1_Missense_Mutation_p.S45R|CYP2C8_uc010qod.1_Missense_Mutation_p.S29R	NM_000770	NP_000761	P10632	CP2C8_HUMAN	Homo sapiens cytochrome P450, family 2, subfamily C, polypeptide 8 (CYP2C8), transcript variant 1, mRNA.	115					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TTTCCATTGCTGGAAATGATT	0.483													G	96827103	T	G	96827103	3	3	275	1	0	0	0	0	1	0	0	0	4200	1580	55	5	1157	5	CYP2C8	10	96827103	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	7134251	96827103	38707644	32	19337											
DUSP5	1847	broad.mit.edu	37	chr10	112269798	112269798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgtcagggaaaagggaGgcaaggtcctggtccactgt	10	8	15	8	0	1	0	1	0	0	0	3	2	3	2	2	5	0	1	2	5	3	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:112269798G>A	uc001kzd.3	+	3	1024	c.769G>A	c.(769-771)Ggc>Agc	p.G257S		NM_004419	NP_004410	Q16690	DUS5_HUMAN	Homo sapiens dual specificity phosphatase 5 (DUSP5), mRNA.	257	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAAAAGGGAGGCAAGGTCCT	0.512													A	112269798	G	A	112269798	3	1	275	1	0	0	0	0	1	0	0	0	4867	1000	35	2	783	2	DUSP5	10	112269798	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	15442695	112269798	23264949	33	19338											
HABP2	3026	broad.mit.edu	37	chr10	115341658	115341658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgcctacccagaggaaagcCccactgagccatcaaccaag	13	5	8	15	0	1	2	1	1	0	1	1	3	1	3	6	1	5	0	6	1	4	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr10:115341658C>A	uc001lai.4	+	8	965	c.862C>A	c.(862-864)Ccc>Acc	p.P288T	HABP2_uc021pyr.1_Missense_Mutation_p.P262T|HABP2_uc010qrz.1_Intron	NM_004132	NP_001171131	Q14520	HABP2_HUMAN	Homo sapiens hyaluronan binding protein 2 (HABP2), transcript variant 1, mRNA.	288					cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		AGAGGAAAGCCCCACTGAGCC	0.507													A	115341658	C	A	115341658	3	1	275	1	0	0	0	0	1	0	0	0	6993	623	22	4	896	4	HABP2	10	115341658	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	3071860	115341658	20193089	34	19339											
OR5B3	441608	broad.mit.edu	37	chr11	58170350	58170350	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatgactgctggaataTcacagaaaaagtgatggact	16	8	10	7	0	1	3	1	2	0	1	1	6	1	5	1	2	2	1	1	2	5	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:58170350T>A	uc010rkf.2	-	0	533	c.533A>T	c.(532-534)gAt>gTt	p.D178V		NM_001005469	NP_001005469	Q8NH48	OR5B3_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily B, member 3 (OR5B3), mRNA.	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TGCTGGAATATCACAGAAAAA	0.423													A	58170350	T	A	58170350	3	1	275	1	0	0	0	0	1	0	0	0	11228	1435	50	5	413	5	OR5B3	11	58170350	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08		58170350	76836166	35	19340											
CASP1	834	broad.mit.edu	37	chr11	104899923	104899923	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcatcatcctcaaactCttctgtagttggtaaagata	14	13	6	8	0	4	1	2	0	2	1	5	1	5	1	1	1	2	4	1	1	7	6			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:104899923C>A	uc001pim.4	-	6	934	c.934G>T	c.(934-936)Gag>Tag	p.E312*	CASP1_uc001pig.3_Nonsense_Mutation_p.E219*|CASP1_uc021qpq.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpr.1_Intron|CASP1_uc021qps.1_Intron|CASP1_uc021qpp.1_Nonsense_Mutation_p.E312*|CASP1_uc021qpt.1_Nonsense_Mutation_p.E219*|CASP1_uc010rve.2_Nonsense_Mutation_p.E312*|CASP1_uc010rvf.2_Nonsense_Mutation_p.E219*|CASP1_uc010rvg.2_Nonsense_Mutation_p.E291*|CASP1_uc010rvh.2_Intron|CASP1_uc010rvi.2_Intron|CASP1_uc009yxi.3_Nonsense_Mutation_p.E291*|CASP1_uc021qpu.1_Nonsense_Mutation_p.E219*|CASP1_uc021qpv.1_Nonsense_Mutation_p.E291*|CASP1_uc021qpw.1_Intron|CASP1_uc021qpx.1_Intron|CASP1_uc010rvj.2_Nonsense_Mutation_p.E312*|CASP1_uc009yxj.3_Nonsense_Mutation_p.E157*|CASP1_uc010rvk.2_Nonsense_Mutation_p.E273*	NM_033292	NP_150634	P29466	CASP1_HUMAN	Homo sapiens caspase 1, apoptosis-related cysteine peptidase (interleukin 1, beta, convertase) (CASP1), transcript variant alpha, mRNA.	312					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	TCCTCAAACTCTTCTGTAGTT	0.408													A	104899923	C	A	104899923	4	1	275	1	0	0	0	0	0	1	0	0	2694	922	32	4	292	4	CASP1	11	104899923	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	46729573	104899923	30106593	36	19341											
OR8D1	283159	broad.mit.edu	37	chr11	124179842	124179842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtggtgtagaacacagagGacaccttctcctggtccagg	9	8	12	12	1	1	2	0	0	1	2	3	3	2	3	4	4	1	1	4	4	2	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124179842G>A	uc010sag.2	-	0	821	c.821C>T	c.(820-822)tCc>tTc	p.S274F		NM_001002917	NP_001002917	Q8WZ84	OR8D1_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily D, member 1 (OR8D1), mRNA.	274					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GAACACAGAGGACACCTTCTC	0.463													A	124179842	G	A	124179842	3	1	275	1	0	0	0	0	1	0	0	0	11307	1174	41	2	108	2	OR8D1	11	124179842	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	19279919	124179842	10826674	37	19342											
OR8B4	283162	broad.mit.edu	37	chr11	124294437	124294439	+	In_Frame_Del	DEL	ACT	ACT	-																															cattgataccaacacatagcActcagaattgacaaagaaac																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr11:124294437_124294439delACT	uc010sak.2	-	0	329_331	c.329_331delAGT	c.(328-333)gagtgc>ggc	p.110_111EC>G		NM_001005196	NP_001005196	Q96RC9	OR8B4_HUMAN	Homo sapiens olfactory receptor, family 8, subfamily B, member 4 (OR8B4), mRNA.	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109F(1)		endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AACACATAGCACTCAGAATTGAC	0.433													-	124294439	ACT	-	124294437	7	5	275	1	0	1	0	1	0	0	0	0	11305	159	6	0	600	0	OR8B4	11	124294437	In_Frame_Del	DEL	ACT	TCGA-76-6657-01A-11D-1845-08	114595	124294437	10712079	38	19343											
DYRK4	8798	broad.mit.edu	37	chr12	4708241	4708241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaactttcaaggcttcaGtctgtccatagttcggcgct	9	13	8	11	2	3	0	2	0	1	0	5	0	4	0	1	2	2	3	1	2	4	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:4708241G>A	uc009zeh.1	+	8	995	c.953G>A	c.(952-954)aGt>aAt	p.S318N	DYRK4_uc001qmx.3_Missense_Mutation_p.S203N|DYRK4_uc001qmy.2_Missense_Mutation_p.S203N|DYRK4_uc021qtq.1_Missense_Mutation_p.S57N	NM_003845	NP_003836	Q9NR20	DYRK4_HUMAN	Homo sapiens dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 4 (DYRK4), mRNA.	203	Protein kinase.					Golgi apparatus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27			Colorectal(7;0.103)			CAAGGCTTCAGTCTGTCCATA	0.413													A	4708241	G	A	4708241	3	1	275	1	0	0	0	0	1	0	0	0	4897	1029	36	2	626	2	DYRK4	12	4708241	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		4708241	129143654	39	19344											
PIK3C2G	5288	broad.mit.edu	37	chr12	18658296	18658296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggagtatgtgaccGtcacaatgataatatcatgc	12	11	9	9	1	2	2	2	2	0	0	3	3	3	3	2	1	1	1	2	1	4	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:18658296G>A	uc001rdt.3	+	22	3217	c.3101G>A	c.(3100-3102)cGt>cAt	p.R1034H	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Missense_Mutation_p.R1075H|PIK3C2G_uc010sic.2_Missense_Mutation_p.R853H	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	1034	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity	p.R1034H(3)		breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				GTATGTGACCGTCACAATGAT	0.398													A	18658296	G	A	18658296	3	1	275	1	0	0	0	0	1	0	0	0	11988	1145	40	1	3187	1	PIK3C2G	12	18658296	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	13950055	18658296	115193599	40	19345											
ALX1	8092	broad.mit.edu	37	chr12	85695206	85695206	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccagtatcgcagttcttCgaatgaaagccaaggagcac	12	9	9	11	2	1	1	0	1	1	0	4	3	2	2	2	1	2	4	2	1	4	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:85695206C>T	uc001tae.4	+	3	938	c.934C>T	c.(934-936)Cga>Tga	p.R312*		NM_006982	NP_008913	Q15699	ALX1_HUMAN	Homo sapiens ALX homeobox 1 (ALX1), mRNA.	312					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.R312Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CGCAGTTCTTCGAATGAAAGC	0.378													T	85695206	C	T	85695206	4	4	275	1	0	0	0	0	0	1	0	0	556	876	31	1	948	1	ALX1	12	85695206	Nonsense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	67036910	85695206	48156689	41	19346											
ACACB	32	broad.mit.edu	37	chr12	109687832	109687832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggatgatggcttgggcGtggagaatctgaggggctca	9	8	19	5	1	2	3	1	2	1	1	2	6	2	5	0	7	0	2	0	7	2	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:109687832G>A	uc001tob.3	+	40	5832	c.5713G>A	c.(5713-5715)Gtg>Atg	p.V1905M	ACACB_uc001toc.3_Missense_Mutation_p.V1905M|ACACB_uc010sxl.1_Non-coding_Transcript|ACACB_uc001tod.3_Non-coding_Transcript|ACACB_uc010sxm.2_Missense_Mutation_p.V571M	NM_001093	NP_001084	O00763	ACACB_HUMAN	Homo sapiens acetyl-CoA carboxylase beta (ACACB), mRNA.	1905	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGGCTTGGGCGTGGAGAATCT	0.493													A	109687832	G	A	109687832	3	1	275	1	0	0	0	0	1	0	0	0	107	1145	40	1	5871	1	ACACB	12	109687832	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	23992626	109687832	24164063	42	19347											
GCN1L1	10985	broad.mit.edu	37	chr12	120582480	120582480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatgggccccacataaggaGtaaacttgtctccaaaggtg	12	9	11	9	0	1	1	0	1	1	0	2	2	1	2	3	3	1	1	3	3	4	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr12:120582480G>A	uc001txo.3	-	40	5328	c.5315C>T	c.(5314-5316)aCt>aTt	p.T1772I		NM_006836	NP_006827	Q92616	GCN1L_HUMAN	Homo sapiens GCN1 general control of amino-acid synthesis 1-like 1 (yeast) (GCN1L1), mRNA.	1772					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CACATAAGGAGTAAACTTGTC	0.512													A	120582480	G	A	120582480	3	1	275	1	0	0	0	0	1	0	0	0	6353	1029	36	2	2772	2	GCN1L1	12	120582480	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	10894648	120582480	13269415	43	19348											
ZC3H13	23091	broad.mit.edu	37	chr13	46549530	46549530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcccaatccctttggcGttctcgttctttatcccttt	3	19	5	14	2	3	0	0	0	3	0	7	0	6	0	3	1	0	2	3	1	2	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:46549530G>A	uc010tfw.1	-	10	2362	c.2356C>T	c.(2356-2358)Cgc>Tgc	p.R786C	ZC3H13_uc001vas.1_Missense_Mutation_p.R786C|ZC3H13_uc001vat.1_Missense_Mutation_p.R786C	NM_015070	NP_055885	Q5T200	ZC3HD_HUMAN	Homo sapiens zinc finger CCCH-type containing 13 (ZC3H13), mRNA.	786	Arg/Glu-rich.						nucleic acid binding|zinc ion binding	p.R786H(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TCCCTTTGGCGTTCTCGTTCT	0.498													A	46549530	G	A	46549530	3	1	275	1	0	0	0	0	1	0	0	0	17666	1145	40	1	2362	1	ZC3H13	13	46549530	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		46549530	68620348	44	19349											
PCID2	55795	broad.mit.edu	37	chr13	113834511	113834511	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcaaactgcatcaggtgaTactttttcaggagctccaca	11	10	8	12	1	2	1	2	1	0	0	3	2	3	2	2	2	4	3	2	2	2	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr13:113834511T>A	uc021rmt.1	-	10	1064	c.983A>T	c.(982-984)tAt>tTt	p.Y328F	PCID2_uc001vtb.2_Missense_Mutation_p.Y107F|PCID2_uc021rmq.1_Missense_Mutation_p.Y274F|PCID2_uc021rmr.1_Missense_Mutation_p.Y274F|PCID2_uc021rms.1_Missense_Mutation_p.Y274F	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	274	PCI.				negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			CATCAGGTGATACTTTTTCAG	0.413													A	113834511	T	A	113834511	3	1	275	1	0	0	0	0	1	0	0	0	11655	1406	49	5	394	5	PCID2	13	113834511	Missense_Mutation	SNP	T	TCGA-76-6657-01A-11D-1845-08	67284981	113834511	1335367	45	19350											
OR4E2	26686	broad.mit.edu	37	chr14	22134222	22134222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagacaagtttttttcaCgaaatcatatacataatggg	15	12	8	6	1	2	1	2	0	0	1	2	3	2	1	0	1	1	2	0	1	5	6			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:22134222C>T	uc010tmd.2	+	0	926	c.926C>T	c.(925-927)aCg>aTg	p.T309M		NM_001001912	NP_001001912	Q8NGC2	OR4E2_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily E, member 2 (OR4E2), mRNA.	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T309T(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		GTTTTTTTCACGAAATCATAT	0.393													T	22134222	C	T	22134222	3	4	275	1	0	0	0	0	1	0	0	0	11136	536	19	1	928	1	OR4E2	14	22134222	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		22134222	85215318	46	19351											
JAG2	3714	broad.mit.edu	37	chr14	105622280	105622280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcttccagcggtcctcCgggttgatcatgccggcatg	5	10	13	13	3	2	1	1	1	1	0	5	1	5	1	4	4	2	3	4	4	0	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr14:105622280C>T	uc001yqg.3	-	3	926	c.522G>A	c.(520-522)ccG>ccA	p.P174P	JAG2_uc001yqh.3_Silent_p.P174P	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	174					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGGTCCTCCGGGTTGATCA	0.652													T	105622280	C	T	105622280	2	4	275	1	0	0	0	0	0	0	0	1	7993	639	23	1		1	JAG2	14	105622280	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	83488058	105622280	1727260	47	19352											
UNC13C	440279	broad.mit.edu	37	chr15	54786821	54786821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatagaacatgaaaatcagcGgttatgcaagagcaccgatt	16	9	9	7	2	1	3	1	1	0	2	1	4	1	3	1	1	4	3	1	1	7	4			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:54786821G>A	uc021smr.1	+	17	4943	c.4943G>A	c.(4942-4944)cGg>cAg	p.R1648Q	UNC13C_uc021sms.1_Missense_Mutation_p.R1650Q	NM_001080534	NP_001074003	Q8NB66	UN13C_HUMAN	Homo sapiens unc-13 homolog C (C. elegans) (UNC13C), mRNA.	1650	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GAAAATCAGCGGTTATGCAAG	0.308													A	54786821	G	A	54786821	3	1	275	1	0	0	0	0	1	0	0	0	17088	1116	39	1	5019	1	UNC13C	15	54786821	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		54786821	47744571	48	19353											
CSK	1445	broad.mit.edu	37	chr15	75092831	75092831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggcacagtggcggcccagGatgagttctaccgcagtgag	9	6	16	10	2	1	2	0	2	1	0	1	3	1	3	2	4	1	3	2	4	1	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:75092831G>A	uc010bkb.1	+	6	724	c.541G>A	c.(541-543)Gat>Aat	p.D181N	CSK_uc002ays.2_Missense_Mutation_p.D181N|CSK_uc010bkc.1_5'UTR	NM_001127190	NP_004374	P41240	CSK_HUMAN	Homo sapiens c-src tyrosine kinase (CSK), transcript variant 2, mRNA.	181					blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GGCGGCCCAGGATGAGTTCTA	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75092831	G	A	75092831	3	1	275	1	0	0	0	0	1	0	0	0	3976	1174	41	2	559	2	CSK	15	75092831	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	20306010	75092831	27438561	49	19354											
ADAMTS7	11173	broad.mit.edu	37	chr15	79057006	79057006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcccggccggagctacagCgcaccggcctccagaccgca	8	3	11	19	5	0	1	0	0	0	1	2	2	2	2	6	3	3	3	6	3	1	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:79057006C>T	uc002bej.4	-	19	4521	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H		NM_014272	NP_055087	Q9UKP4	ATS7_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 7 (ADAMTS7), mRNA.	1437	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						GGAGCTACAGCGCACCGGCCT	0.726													T	79057006	C	T	79057006	3	4	275	1	0	0	0	0	1	0	0	0	271	768	27	1	770	1	ADAMTS7	15	79057006	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	3964175	79057006	23474386	50	19355											
ALPK3	57538	broad.mit.edu	37	chr15	85383056	85383056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatccaccagcgctggttCgccaagttgaagcgcaaggc	11	6	12	12	3	0	2	0	1	0	1	2	2	1	2	3	2	2	4	3	2	4	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:85383056C>T	uc002ble.3	+	4	1319	c.1152C>T	c.(1150-1152)ttC>ttT	p.F384F		NM_020778	NP_065829	Q96L96	ALPK3_HUMAN	Homo sapiens alpha-kinase 3 (ALPK3), mRNA.	384					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCGCTGGTTCGCCAAGTTGA	0.617													T	85383056	C	T	85383056	2	4	275	1	0	0	0	0	0	0	0	1	546	883	31	1		1	ALPK3	15	85383056	Silent	SNP	C	TCGA-76-6657-01A-11D-1845-08	6326050	85383056	17148336	51	19356											
BLM	641	broad.mit.edu	37	chr15	91341566	91341566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctggtcgacattttcttGggtaagtcatctgttttgaa	8	17	10	6	1	3	1	1	1	2	0	4	2	3	1	0	2	1	3	0	2	2	6			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:91341566G>A	uc002bpr.3	+	17	3455	c.3358_splice	c.e17+1	p.G1120_splice	BLM_uc010uqh.2_Splice_Site_p.G1120_splice|BLM_uc010uqi.2_Splice_Site_p.G745_splice|BLM_uc010bnx.3_Splice_Site_p.E1120_splice	NM_000057	NP_000048	P54132	BLM_HUMAN	Homo sapiens Bloom syndrome, RecQ helicase-like (BLM), mRNA.	1120					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			ACATTTTCTTGGGTAAGTCAT	0.294			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				A	91341566	G	A	91341566	2	1	275	1	0	0	0	0	0	0	0	1	1451	1362	47	2		2	BLM	15	91341566	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08	5958510	91341566	11189826	52	19357											
MEF2A	4205	broad.mit.edu	37	chr15	100230604	100230604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcttcgagttgtcatccccCcttcaagcaagggcatgatg	9	11	9	12	1	3	1	2	1	1	0	5	2	4	1	3	1	1	3	3	1	2	3			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr15:100230604C>G	uc010urw.2	+	6	1194	c.835C>G	c.(835-837)Cct>Gct	p.P279A	MEF2A_uc002bve.3_Missense_Mutation_p.P277A|MEF2A_uc002bvg.3_Missense_Mutation_p.P277A|MEF2A_uc010urv.2_Missense_Mutation_p.P209A|MEF2A_uc010bos.3_Missense_Mutation_p.P277A|MEF2A_uc002bvf.3_Missense_Mutation_p.P279A|MEF2A_uc002bvi.3_Missense_Mutation_p.P277A|MEF2A_uc010bot.3_Missense_Mutation_p.P209A	NM_005587	NP_005578	Q02078	MEF2A_HUMAN	Homo sapiens myocyte enhancer factor 2A (MEF2A), transcript variant 1, mRNA.	279	Required for interaction with MAPKs.		P -> L.		apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGTCATCCCCCCTTCAAGCAA	0.428													G	100230604	C	G	100230604	3	3	275	1	0	0	0	0	1	0	0	0	9530	623	22	4	993	4	MEF2A	15	100230604	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	8889038	100230604	2300788	53	19358											
ACSM2A	123876	broad.mit.edu	37	chr16	20494409	20494409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatttgtggtcctggcctcGcagttcctgtcccatgaccc	4	12	10	15	1	0	1	0	1	0	0	4	1	3	1	5	2	0	3	5	2	0	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:20494409G>A	uc010bwe.3	+	13	1778	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S	ACSM2A_uc002dhf.4_Silent_p.S513S|ACSM2A_uc002dhg.4_Silent_p.S513S|ACSM2A_uc010vay.2_Silent_p.S434S|ACSM2A_uc002dhh.4_Silent_p.S143S	NM_001010845	NP_001010845	Q08AH3	ACS2A_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2A (ACSM2A), nuclear gene encoding mitochondrial protein, mRNA.	513			S -> L (in dbSNP:rs1133607).		fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding	p.S513P(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TCCTGGCCTCGCAGTTCCTGT	0.498													A	20494409	G	A	20494409	2	1	275	1	0	0	0	0	0	0	0	1	183	1074	38	1		1	ACSM2A	16	20494409	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		20494409	69860344	54	19359											
CDH5	1003	broad.mit.edu	37	chr16	66432371	66432371	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccagctggtcctgcagAtctccgcaatagacaaggac	11	7	9	14	1	1	2	0	0	1	2	4	3	3	3	3	2	2	3	3	2	3	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr16:66432371A>C	uc002eom.4	+	9	1654	c.1498A>C	c.(1498-1500)Atc>Ctc	p.I500L		NM_001795	NP_001786	P33151	CADH5_HUMAN	Homo sapiens cadherin 5, type 2 (vascular endothelium) (CDH5), mRNA.	500	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		GGTCCTGCAGATCTCCGCAAT	0.493													C	66432371	A	C	66432371	3	2	275	1	0	0	0	0	1	0	0	0	3143	333	12	5	1532	5	CDH5	16	66432371	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	45937962	66432371	23922382	55	19360											
NF1	4763	broad.mit.edu	37	chr17	29556484	29556484	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttgactcccaaggacagGtaaagtgttctcttattttt	9	18	7	7	0	1	1	0	1	1	0	3	2	2	2	1	2	0	2	1	2	4	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29556484G>A	uc002hgg.3	+	21	3233	c.2850_splice	c.e21+1	p.Q950_splice	NF1_uc002hgh.3_Splice_Site_p.Q950_splice|NF1_uc010csn.2_Splice_Site_p.Q810_splice|NF1_uc002hgi.1_5'UTR	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	950					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(7)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGGACAGGTAAAGTGTTC	0.343			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29556484	G	A	29556484	5	1	275	1	0	0	0	0	0	0	1	0	10432	1275	44	2	2994	2	NF1	17	29556484	Splice_Site	SNP	G	TCGA-76-6657-01A-11D-1845-08		29556484	51638726	56	19361											
NF1	4763	broad.mit.edu	37	chr17	29683590	29683590	+	Frame_Shift_Del	DEL	T	T	-																															aggagagtagcagaaactgaTtatgaaatgggtgagaaaca																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29683590delT	uc002hgg.3	+	51	8111	c.7728delT	c.(7726-7728)gatfs	p.D2576fs	NF1_uc002hgh.3_Frame_Shift_Del_p.D2555fs|NF1_uc010cso.3_Frame_Shift_Del_p.D764fs|NF1_uc010wbt.1_Frame_Shift_Del_p.D54fs|NF1_uc010wbu.1_Non-coding_Transcript	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	2576					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CAGAAACTGATTATGAAATGG	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29683590	T	-	29683590	7	5	275	1	0	1	0	1	0	0	0	0	10432	1490	52	0	7995	0	NF1	17	29683590	Frame_Shift_Del	DEL	T	TCGA-76-6657-01A-11D-1845-08	127106	29683590	51511620	57	19362											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29850996	29850997	+	Frame_Shift_Del	DEL	AC	AC	-																															gagcaagctgaagcaagagaAcacacagctggtgcacaggt																										TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr17:29850996_29850997delAC	uc002hgn.1	+	8	1344_1345	c.1115_1116delAC	c.(1114-1116)aacfs	p.N372fs	RAB11FIP4_uc002hgo.2_Frame_Shift_Del_p.N270fs	NM_032932	NP_116321	Q86YS3	RFIP4_HUMAN	Homo sapiens RAB11 family interacting protein 4 (class II) (RAB11FIP4), mRNA.	372	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				AAGCAAGAGAACACACAGCTGG	0.599													-	29850997	AC	-	29850996	7	5	275	1	0	1	0	1	0	0	0	0	12984	43	2	0	1149	0	RAB11FIP4	17	29850996	Frame_Shift_Del	DEL	AC	TCGA-76-6657-01A-11D-1845-08	167406	29850996	51344214	58	19363											
ANKRD30B	374860	broad.mit.edu	37	chr18	14779969	14779969	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acatttttagatcagatgttCccatcagaatccaaacgaga	15	11	6	9	1	2	4	2	0	0	4	4	5	4	4	2	0	1	1	2	0	3	4	rs9675365	by1000genomes	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr18:14779969C>G	uc010dlo.2	+	10	1611	c.1431C>G	c.(1429-1431)ttC>ttG	p.F477L	ANKRD30B_uc010xak.2_Non-coding_Transcript|ANKRD30B_uc021uhy.1_Missense_Mutation_p.F477L	NM_001145029	NP_001138501	Q9BXX2	AN30B_HUMAN	Homo sapiens ankyrin repeat domain 30B (ANKRD30B), mRNA.	477			F -> L (in dbSNP:rs9675365).					p.F477L(3)		breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ATCAGATGTTCCCATCAGAAT	0.279													G	14779969	C	G	14779969	3	3	275	1	0	0	0	0	1	0	0	0	659	854	30	4	1473	4	ANKRD30B	18	14779969	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		14779969	63297279	59	19364											
C19orf21	126353	broad.mit.edu	37	chr19	757476	757476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggacccccggcccacctcGgtccacgcccctggaggaga	7	3	12	19	3	0	1	0	0	0	1	2	4	1	3	7	5	0	0	7	5	0	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:757476G>A	uc002lpo.3	+	1	613	c.530G>A	c.(529-531)cGg>cAg	p.R177Q		NM_173481	NP_775752	Q8IVT2	CS021_HUMAN	Homo sapiens chromosome 19 open reading frame 21 (C19orf21), mRNA.	177								p.R177R(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000145)|all_lung(49;0.000236)|Breast(49;0.0014)		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)		GGCCCACCTCGGTCCACGCCC	0.667													A	757476	G	A	757476	3	1	275	1	0	0	0	0	1	0	0	0	1932	1116	39	1	532	1	C19orf21	19	757476	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		757476	58371507	60	19365											
REXO1	57455	broad.mit.edu	37	chr19	1827011	1827011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtccacatccgcccccgCgctggaggtggaggaggagg	7	5	17	12	3	0	0	0	0	0	0	2	4	2	4	4	6	0	2	4	6	1	1			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:1827011C>G	uc002lua.4	-	1	1872	c.1777G>C	c.(1777-1779)Gcg>Ccg	p.A593P	REXO1_uc010dsr.1_Missense_Mutation_p.A547P	NM_020695	NP_065746	Q8N1G1	REXO1_HUMAN	Homo sapiens REX1, RNA exonuclease 1 homolog (S. cerevisiae) (REXO1), mRNA.	593						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TCCGCCCCCGCGCTggaggtg	0.697													G	1827011	C	G	1827011	3	3	275	1	0	0	0	0	1	0	0	0	13329	768	27	4	1948	4	REXO1	19	1827011	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	1069535	1827011	57301972	61	19366											
FCER2	2208	broad.mit.edu	37	chr19	7763247	7763247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccccttcataccgttcCgggcagccctctcttccagc	5	11	7	18	2	2	1	1	1	1	0	5	1	4	1	6	1	3	2	6	1	1	5			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:7763247C>T	uc002mhn.3	-	3	402	c.185G>A	c.(184-186)cGg>cAg	p.R62Q	FCER2_uc021unx.1_Missense_Mutation_p.R61Q|FCER2_uc002mhm.2_Missense_Mutation_p.R62Q|FCER2_uc010xjt.2_5'UTR|FCER2_uc010dvo.2_Missense_Mutation_p.R62Q	NM_001220500	NP_001207429	P06734	FCER2_HUMAN	Homo sapiens Fc fragment of IgE, low affinity II, receptor for (CD23) (FCER2), transcript variant 3, mRNA.	62			R -> W (in dbSNP:rs2228137).		positive regulation of killing of cells of other organism|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of nitric-oxide synthase activity	extracellular region|integral to plasma membrane	IgE binding|integrin binding|receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10						CATACCGTTCCGGGCAGCCCT	0.622													T	7763247	C	T	7763247	3	4	275	1	0	0	0	0	1	0	0	0	5825	652	23	1	812	1	FCER2	19	7763247	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	5936236	7763247	51365736	62	19367											
FBN3	84467	broad.mit.edu	37	chr19	8183822	8183822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtcagctcatgcccagggGgacactggcacttgtagctc	7	8	12	14	1	2	0	2	0	0	0	3	1	2	1	2	3	3	4	2	3	1	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr19:8183822G>A	uc002mjf.3	-	24	3313	c.3296C>T	c.(3295-3297)cCc>cTc	p.P1099L		NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	1099	EGF-like 14; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.C1098C(1)		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						ATGCCCAGGGGGACACTGGCA	0.592													A	8183822	G	A	8183822	3	1	275	1	0	0	0	0	1	0	0	0	5753	1232	43	2	5289	2	FBN3	19	8183822	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	420575	8183822	50945161	63	19368											
SALL4	57167	broad.mit.edu	37	chr20	50407510	50407510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggctgcaggtcaccGggcaaggagccacccgtgag	8	3	16	14	2	1	1	1	1	0	0	1	2	1	2	4	5	2	3	4	5	1	0	rs138804604	byFrequency	TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:50407510G>A	uc002xwh.4	-	1	1613	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_uc010gii.3_Intron|SALL4_uc002xwi.4_Intron	NM_020436	NP_065169	Q9UJQ4	SALL4_HUMAN	Homo sapiens sal-like 4 (Drosophila) (SALL4), mRNA.	504					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													A	50407510	G	A	50407510	2	1	275	1	0	0	0	0	0	0	0	1	13904	1103	39	1		1	SALL4	20	50407510	Silent	SNP	G	TCGA-76-6657-01A-11D-1845-08		50407510	12618010	64	19369											
LAMA5	3911	broad.mit.edu	37	chr20	60928193	60928193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggcagagactcacaggCaaagaactgccagggctggt	11	4	15	11	2	1	2	1	0	0	2	1	3	1	2	1	5	2	3	1	5	2	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr20:60928193C>G	uc002ycq.3	-	2	632	c.565G>C	c.(565-567)Gcc>Ccc	p.A189P	LAMA5_uc021wfw.1_Missense_Mutation_p.A189P	NM_005560	NP_005551	O15230	LAMA5_HUMAN	Homo sapiens laminin, alpha 5 (LAMA5), mRNA.	189	Laminin N-terminal.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTCACAGGCAAAGAACTGC	0.662													G	60928193	C	G	60928193	3	3	275	1	0	0	0	0	1	0	0	0	8668	710	25	4	10834	4	LAMA5	20	60928193	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08	10520683	60928193	2097327	65	19370											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117243	46117243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgagcccccctgctgcGccccggccccctgcctgagc	2	6	12	21	2	0	2	0	2	0	0	0	2	0	2	8	1	5	2	8	1	0	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr21:46117243G>A	uc002zfw.1	+	0	157	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	TSPEAR_uc002zfe.1_Intron|TSPEAR_uc010gpv.1_Intron	NM_198699	NP_941972	P60413	KR10C_HUMAN	Homo sapiens keratin associated protein 10-12 (KRTAP10-12), mRNA.	43	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CCCCTGCTGCGCCCCGGCCCC	0.677													A	46117243	G	A	46117243	3	1	275	1	0	0	0	0	1	0	0	0	8566	1087	38	1	129	1	KRTAP10-12	21	46117243	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08		46117243	2012652	66	19371											
POTEH	23784	broad.mit.edu	37	chr22	16287770	16287770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtgcccacgttgctcttgCcgctccccctgcaccaggcg	5	8	10	18	3	1	0	0	0	1	0	2	0	2	0	5	1	4	4	5	1	1	2			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:16287770C>T	uc010gqp.2	-	0	168	c.116G>A	c.(115-117)gGc>gAc	p.G39D	POTEH_uc002zlg.1_5'Flank|POTEH_uc002zlh.1_5'Flank|POTEH_uc002zlj.1_5'UTR	NM_001136213	NP_001129685	Q6S545	POTEH_HUMAN	Homo sapiens POTE ankyrin domain family, member H (POTEH), mRNA.	39										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTTGCTCTTGCCGCTCCCCCT	0.592													T	16287770	C	T	16287770	3	4	275	1	0	0	0	0	1	0	0	0	12344	739	26	2	1561	2	POTEH	22	16287770	Missense_Mutation	SNP	C	TCGA-76-6657-01A-11D-1845-08		16287770	35016796	67	19372											
LZTR1	8216	broad.mit.edu	37	chr22	21342326	21342326	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactggggacatttattccaAttctaacttgaagaataaaa	16	12	6	7	0	1	2	0	1	1	1	2	3	2	3	1	2	1	0	1	2	7	7			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:21342326A>C	uc002zto.3	+	4	531	c.428A>C	c.(427-429)aAt>aCt	p.N143T	LZTR1_uc002ztn.3_Missense_Mutation_p.N102T|LZTR1_uc011ahy.2_Missense_Mutation_p.N124T|LZTR1_uc010gsr.1_Missense_Mutation_p.N14T	NM_006767	NP_006758	Q8N653	LZTR1_HUMAN	Homo sapiens leucine-zipper-like transcription regulator 1 (LZTR1), mRNA.	143					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ATTTATTCCAATTCTAACTTG	0.438													C	21342326	A	C	21342326	3	2	275	1	0	0	0	0	1	0	0	0	9208	101	4	5	446	5	LZTR1	22	21342326	Missense_Mutation	SNP	A	TCGA-76-6657-01A-11D-1845-08	5054556	21342326	29962240	68	19373											
C1QTNF6	114904	broad.mit.edu	37	chr22	37581479	37581479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagacgggacccagggcgGctgtccccatggtgacctgg	6	5	15	15	2	0	2	0	1	0	1	1	3	1	3	5	5	0	1	5	5	0	0			TCGA-76-6657-01A-11D-1845-08	TCGA-76-6657-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6ba47878-126c-420d-b3c1-ca7ea8c182d0	5d0ee6bc-8f13-4dd5-a7c0-7145c3fb0b7e	g.chr22:37581479G>T	uc003aqx.1	-	1	331	c.68C>A	c.(67-69)gCc>gAc	p.A23D	C1QTNF6_uc003aqw.1_Missense_Mutation_p.A4D|C1QTNF6_uc003aqy.1_Missense_Mutation_p.A23D|C1QTNF6_uc003aqz.1_Non-coding_Transcript	NM_182486	NP_872292	Q9BXI9	C1QT6_HUMAN	Homo sapiens C1q and tumor necrosis factor related protein 6 (C1QTNF6), transcript variant 2, mRNA.	4			P -> R (in dbSNP:rs229526).			collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						ACCCAGGGCGGCTGTCCCCAT	0.602													T	37581479	G	T	37581479	3	4	275	1	0	0	0	0	1	0	0	0	1987	1203	42	4	776	4	C1QTNF6	22	37581479	Missense_Mutation	SNP	G	TCGA-76-6657-01A-11D-1845-08	16239153	37581479	13723087	69	19374											
C1orf86	199990	broad.mit.edu	37	chr1	2125232	2125232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggtgccctcctgcccCgtgaagcagccggtaggaac	7	7	12	15	2	0	1	0	1	0	0	2	2	2	2	6	3	5	2	6	3	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:2125232C>T	uc001aix.2	-	6	1076	c.303G>A	c.(301-303)acG>acA	p.T101T	C1orf86_uc001aiv.2_Non-coding_Transcript|C1orf86_uc001aiw.2_Non-coding_Transcript|C1orf86_uc001aiy.3_Missense_Mutation_p.G106R	NM_001146310	NP_001139782	Q6NZ36	CA086_HUMAN	Homo sapiens chromosome 1 open reading frame 86 (C1orf86), transcript variant 1, mRNA.	79										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CCTCCTGCCCCGTGAAGCAGC	0.692													T	2125232	C	T	2125232	3	4	276	1	0	0	0	0	1	0	0	0	2084	652	23	1	474	1	C1orf86	1	2125232	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		2125232	247125389	1	19375											
SPEN	23013	broad.mit.edu	37	chr1	16260992	16260992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactgctgcatctggtggtGtaacggccacaacaggcacg	9	9	12	11	2	1	0	0	0	1	0	1	0	1	0	1	4	5	4	1	4	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:16260992G>A	uc001axk.1	+	10	8461	c.8257G>A	c.(8257-8259)Gta>Ata	p.V2753I	SPEN_uc010obp.1_Missense_Mutation_p.V2712I	NM_015001	NP_055816	Q96T58	MINT_HUMAN	Homo sapiens spen homolog, transcriptional regulator (Drosophila) (SPEN), mRNA.	2753	Interaction with RBPSUH (By similarity).				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		ATCTGGTGGTGTAACGGCCAC	0.577													A	16260992	G	A	16260992	3	1	276	1	0	0	0	0	1	0	0	0	15134	1377	48	2	8299	2	SPEN	1	16260992	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	14135760	16260992	232989629	2	19376											
OPRD1	4985	broad.mit.edu	37	chr1	29189500	29189500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcgtggtgtgttgggCgcccatccacatcttcgtca	4	12	11	14	4	2	0	1	0	1	0	5	0	3	0	3	2	0	1	3	2	0	3	rs139895939		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:29189500C>T	uc001brf.1	+	2	1066	c.824C>T	c.(823-825)gCg>gTg	p.A275V		NM_000911	NP_000902	P41143	OPRD_HUMAN	Homo sapiens opioid receptor, delta 1 (OPRD1), mRNA.	275					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GTGTGTTGGGCGCCCATCCAC	0.672													T	29189500	C	T	29189500	3	4	276	1	0	0	0	0	1	0	0	0	10960	768	27	1	834	1	OPRD1	1	29189500	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	12928508	29189500	220061121	3	19377											
PTPN22	26191	broad.mit.edu	37	chr1	114380721	114380721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaattaaaatatcttcctGctgcatttacaggtttagaa	13	16	6	6	0	1	2	0	1	1	1	2	2	2	2	1	1	3	3	1	1	7	8			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:114380721G>A	uc001eds.3	-	12	1431	c.1301C>T	c.(1300-1302)gCa>gTa	p.A434V	PTPN22_uc021orx.1_Missense_Mutation_p.A434V|PTPN22_uc009wgq.3_Missense_Mutation_p.A379V|PTPN22_uc021ory.1_Missense_Mutation_p.A410V|PTPN22_uc010owo.2_Missense_Mutation_p.A190V|PTPN22_uc001edt.3_Intron|PTPN22_uc009wgr.2_Missense_Mutation_p.A434V|PTPN22_uc009wgs.2_Missense_Mutation_p.A307V|PTPN22_uc001edu.2_Missense_Mutation_p.A434V	NM_015967	NP_057051	Q9Y2R2	PTN22_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 22 (lymphoid) (PTPN22), transcript variant 1, mRNA.	434					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATATCTTCCTGCTGCATTTAC	0.408													A	114380721	G	A	114380721	3	1	276	1	0	0	0	0	1	0	0	0	12875	1319	46	2	1181	2	PTPN22	1	114380721	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	85191221	114380721	134869900	4	19378											
IGSF3	3321	broad.mit.edu	37	chr1	117142794	117142794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactggacccctccgtcccGggtgaaggtcaccaagtcat	8	7	10	16	2	2	1	2	1	0	0	4	2	4	2	6	3	0	0	6	3	2	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117142794G>A	uc001egq.1	-	7	2563	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	IGSF3_uc001egr.1_Missense_Mutation_p.R600W|IGSF3_uc001egs.1_Missense_Mutation_p.R273W	NM_001542	NP_001533	O75054	IGSF3_HUMAN	Homo sapiens immunoglobulin superfamily, member 3 (IGSF3), transcript variant 1, mRNA.	600	Ig-like C2-type 5.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTCCGTCCCGGGTGAAGGTC	0.622													A	117142794	G	A	117142794	3	1	276	1	0	0	0	0	1	0	0	0	7659	1115	39	1	1806	1	IGSF3	1	117142794	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	2762073	117142794	132107827	5	19379											
VTCN1	79679	broad.mit.edu	37	chr1	117690323	117690323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaggcagaagtgcccagCtgatggcaaagaaagaagag	16	4	15	6	0	0	6	0	2	0	5	0	7	0	6	1	2	2	3	1	2	4	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:117690323C>A	uc001ehb.3	-	4	911	c.806G>T	c.(805-807)aGc>aTc	p.S269I	VTCN1_uc021osn.1_Missense_Mutation_p.S174I|VTCN1_uc021oso.1_Non-coding_Transcript|VTCN1_uc001ehc.3_Missense_Mutation_p.S174I|VTCN1_uc009whf.2_Missense_Mutation_p.S153I	NM_024626	NP_078902	Q7Z7D3	VTCN1_HUMAN	Homo sapiens V-set domain containing T cell activation inhibitor 1 (VTCN1), transcript variant 1, mRNA.	269						integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		AAGTGCCCAGCTGATGGCAAA	0.448													A	117690323	C	A	117690323	3	1	276	1	0	0	0	0	1	0	0	0	17336	797	28	4	46	4	VTCN1	1	117690323	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	547529	117690323	131560298	6	19380											
C1orf110	339512	broad.mit.edu	37	chr1	162829260	162829260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagtcttaccttgctgcaaCctctgcagttctttttggag	8	15	8	10	0	3	0	0	0	3	0	3	1	3	1	2	1	5	4	2	1	3	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:162829260C>A	uc001gck.2	-	1	352	c.177G>T	c.(175-177)agG>agT	p.R59S	C1orf110_uc009wux.1_Missense_Mutation_p.R59S	NM_178550	NP_848645	Q86UF4	CA110_HUMAN	Homo sapiens chromosome 1 open reading frame 110 (C1orf110), mRNA.	59										endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	12						CTTGCTGCAACCTCTGCAGTT	0.547													A	162829260	C	A	162829260	3	1	276	1	0	0	0	0	1	0	0	0	2003	506	18	4	743	4	C1orf110	1	162829260	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	45138937	162829260	86421361	7	19381											
CYB5R1	51706	broad.mit.edu	37	chr1	202932844	202932844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccggatcagctgtagcaTtggggtgattcctgcatgaa	8	10	14	9	1	1	2	1	2	0	0	2	3	2	3	2	4	3	4	2	4	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:202932844T>C	uc001gyt.2	-	6	642	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	CYB5R1_uc010pqe.1_Non-coding_Transcript	NM_016243	NP_057327	Q9UHQ9	NB5R1_HUMAN	Homo sapiens cytochrome b5 reductase 1 (CYB5R1), mRNA.	191					sterol biosynthetic process	integral to membrane	cytochrome-b5 reductase activity			breast(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGCTGTAGCATTGGGGTGATT	0.512													C	202932844	T	C	202932844	3	2	276	1	0	0	0	0	1	0	0	0	4159	1493	52	3	358	3	CYB5R1	1	202932844	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	40103584	202932844	46317777	8	19382											
SMYD3	64754	broad.mit.edu	37	chr1	246078867	246078867	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacggaaacagtcacattCaaagcagtactggtccctca	14	7	8	12	1	3	0	3	0	0	0	4	1	4	1	1	2	4	3	1	2	4	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr1:246078867C>A	uc001ibl.3	-	7	903	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	SMYD3_uc001ibk.3_Nonsense_Mutation_p.E201*|SMYD3_uc001ibj.3_Nonsense_Mutation_p.E71*	NM_001167740	NP_073580	Q9H7B4	SMYD3_HUMAN	Homo sapiens SET and MYND domain containing 3 (SMYD3), transcript variant 1, mRNA.	260						cytoplasm|nucleus	histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		CAGTCACATTCAAAGCAGTAC	0.512													A	246078867	C	A	246078867	4	1	276	1	0	0	0	0	0	1	0	0	14917	835	29	4	528	4	SMYD3	1	246078867	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	43146023	246078867	3171754	9	19383											
SEMA4F	10505	broad.mit.edu	37	chr2	74900663	74900663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcagtgggtcgtgccgaGgactggattcggacagatac	10	7	16	8	3	0	2	0	0	0	2	2	6	0	5	1	4	3	1	1	4	1	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:74900663G>A	uc002sna.1	+	5	741	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SEMA4F_uc010ysb.1_3'UTR|SEMA4F_uc021vjn.1_Silent_p.E210E|SEMA4F_uc010ffq.1_Silent_p.E177E|SEMA4F_uc010ffr.1_5'UTR|SEMA4F_uc002snb.1_5'UTR|SEMA4F_uc002snc.1_Intron	NM_004263	NP_004254	O95754	SEM4F_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F (SEMA4F), mRNA.	210	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GTCGTGCCGAGGACTGGATTC	0.612													A	74900663	G	A	74900663	2	1	276	1	0	0	0	0	0	0	0	1	14128	991	35	2		2	SEMA4F	2	74900663	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		74900663	168298710	10	19384											
REV1	51455	broad.mit.edu	37	chr2	100065960	100065960	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gttttctcaattcctcagcgGaaggatctgcaaaatttata	12	14	7	8	1	3	0	2	0	2	0	5	2	4	2	1	2	2	2	1	2	6	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:100065960G>C	uc002tad.3	-	3	400	c.188C>G	c.(187-189)tCc>tGc	p.S63C	REV1_uc002tac.3_Missense_Mutation_p.S63C|REV1_uc002tae.1_Missense_Mutation_p.S42C	NM_016316	NP_057400	Q9UBZ9	REV1_HUMAN	Homo sapiens REV1 homolog (S. cerevisiae) (REV1), transcript variant 1, mRNA.	63	BRCT.				DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTCCTCAGCGGAAGGATCTGC	0.313								Direct reversal of damage					C	100065960	G	C	100065960	3	2	276	1	0	0	0	0	1	0	0	0	13327	1174	41	4	3647	4	REV1	2	100065960	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	25165297	100065960	143133413	11	19385											
CNTNAP5	129684	broad.mit.edu	37	chr2	125530548	125530548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagcaccagggagacgtcGgaggagggccattttcgact	10	6	16	9	3	0	1	0	0	0	1	2	6	0	4	2	5	1	1	2	5	0	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:125530548G>A	uc010flu.3	+	16	3070	c.2706G>A	c.(2704-2706)tcG>tcA	p.S902S	CNTNAP5_uc002tno.3_Silent_p.S901S	NM_130773	NP_570129	Q8WYK1	CNTP5_HUMAN	Homo sapiens contactin associated protein-like 5 (CNTNAP5), mRNA.	901	Laminin G-like 3.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		GGGAGACGTCGGAGGAGGGCC	0.532													A	125530548	G	A	125530548	2	1	276	1	0	0	0	0	0	0	0	1	3681	1103	39	1		1	CNTNAP5	2	125530548	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	25464588	125530548	117668825	12	19386											
TTN	7273	broad.mit.edu	37	chr2	179458769	179458769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatttgccggaatctgaacGtttggccttgatcttctcta	7	16	9	9	2	3	2	0	2	3	0	4	3	3	3	2	2	2	2	2	2	4	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179458769G>A	uc021vsy.1	-	245	50872	c.50647C>T	c.(50647-50649)Cgt>Tgt	p.R16883C	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.R10578C|TTN_uc021vta.1_Missense_Mutation_p.R10511C|TTN_uc021vtb.1_Missense_Mutation_p.R10386C	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	17810	Fibronectin type-III 22.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAATCTGAACGTTTGGCCTTG	0.423													A	179458769	G	A	179458769	3	1	276	1	0	0	0	0	1	0	0	0	16837	1145	40	1	49892	1	TTN	2	179458769	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	53928221	179458769	63740604	13	19387											
CCDC141	285025	broad.mit.edu	37	chr2	179720232	179720232	+	Frame_Shift_Del	DEL	T	T	-																															atttaagaaagaatcagaggTtttattactaactttttcca																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:179720232delT	uc002une.2	-	18	3020	c.2902delA	c.(2902-2904)accfs	p.T968fs	CCDC141_uc002unf.1_Frame_Shift_Del_p.T447fs	NM_173648	NP_775919	Q6ZP82	CC141_HUMAN	Homo sapiens coiled-coil domain containing 141 (CCDC141), mRNA.	393							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			GAATCAGAGGTTTTATTACTA	0.284													-	179720232	T	-	179720232	7	5	276	1	0	1	0	1	0	0	0	0	2801	1725	60	0	1470	0	CCDC141	2	179720232	Frame_Shift_Del	DEL	T	TCGA-76-6660-01A-11D-1845-08	261463	179720232	63479141	14	19388											
WDR75	84128	broad.mit.edu	37	chr2	190313200	190313200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacagaaatctggtgaCtggaatccagcttaacccca	13	8	9	11	0	1	2	0	1	1	1	2	4	2	4	3	3	2	1	3	3	3	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:190313200C>T	uc002uql.1	+	1	242	c.182C>T	c.(181-183)aCt>aTt	p.T61I	WDR75_uc002uqm.1_5'UTR|WDR75_uc002uqn.1_5'UTR	NM_032168	NP_115544	Q8IWA0	WDR75_HUMAN	Homo sapiens WD repeat domain 75 (WDR75), mRNA.	61						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AATCTGGTGACTGGAATCCAG	0.398													T	190313200	C	T	190313200	3	4	276	1	0	0	0	0	1	0	0	0	17427	565	20	2	188	2	WDR75	2	190313200	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	10592968	190313200	52886173	15	19389											
TRIP12	9320	broad.mit.edu	37	chr2	230683176	230683176	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaataactgcctgaagctgTtgactttcatcactggcttg	9	14	8	10	0	3	2	3	2	0	0	3	2	3	2	1	1	3	3	1	1	3	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:230683176T>C	uc002vpx.1	-	8	1612	c.1503A>G	c.(1501-1503)caA>caG	p.Q501Q	TRIP12_uc021vxw.1_Silent_p.Q459Q|TRIP12_uc002vpy.1_Silent_p.Q156Q|TRIP12_uc002vpw.1_Silent_p.Q453Q|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Silent_p.Q459Q	NM_004238	NP_004229	Q14669	TRIPC_HUMAN	Homo sapiens thyroid hormone receptor interactor 12 (TRIP12), mRNA.	453					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CCTGAAGCTGTTGACTTTCAT	0.388													C	230683176	T	C	230683176	2	2	276	1	0	0	0	0	0	0	0	1	16657	1722	60	3		3	TRIP12	2	230683176	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	40369976	230683176	12516197	16	19390											
ILKAP	80895	broad.mit.edu	37	chr2	239079263	239079263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcctgttgcaggctgCttcgtagcgggcgtcggctg	3	9	17	12	4	0	0	0	0	0	0	2	0	0	0	2	4	4	6	2	4	1	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr2:239079263C>T	uc002vxv.3	-	11	1223	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	ILKAP_uc010zns.2_Missense_Mutation_p.A297T|ILKAP_uc002vxw.3_Missense_Mutation_p.A245T|ILKAP_uc021vyt.1_Non-coding_Transcript|ILKAP_uc021vyu.1_Missense_Mutation_p.A247T	NM_030768	NP_110395	Q9H0C8	ILKAP_HUMAN	Homo sapiens integrin-linked kinase-associated serine/threonine phosphatase (ILKAP), mRNA.	365	PP2C-like.					cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TTGCAGGCTGCTTCGTAGCGG	0.637													T	239079263	C	T	239079263	3	4	276	1	0	0	0	0	1	0	0	0	7772	797	28	2	89	2	ILKAP	2	239079263	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	8396087	239079263	4120110	17	19391											
CNTN4	152330	broad.mit.edu	37	chr3	3076439	3076439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgtcattcaagccaggaCtccattctccgtgggctggc	7	11	11	12	1	3	0	2	0	1	0	5	1	4	1	3	3	1	2	3	3	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:3076439C>T	uc003bpc.3	+	16	2246	c.1907C>T	c.(1906-1908)aCt>aTt	p.T636I	CNTN4_uc003bpb.1_Missense_Mutation_p.T307I|CNTN4_uc021wsg.1_Missense_Mutation_p.T636I|CNTN4_uc003bpd.1_Missense_Mutation_p.T636I|CNTN4_uc003bpe.3_Missense_Mutation_p.T308I|CNTN4_uc003bpf.3_Missense_Mutation_p.T307I	NM_175607	NP_783302	Q8IWV2	CNTN4_HUMAN	Homo sapiens contactin 4 (CNTN4), transcript variant 1, mRNA.	636	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CAAGCCAGGACTCCATTCTCC	0.532													T	3076439	C	T	3076439	3	4	276	1	0	0	0	0	1	0	0	0	3674	565	20	2	1961	2	CNTN4	3	3076439	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		3076439	194945991	18	19392											
ITIH4	3700	broad.mit.edu	37	chr3	52853785	52853785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaccttgtctattccatcCtcttcttggagaaaaggaag	11	13	7	10	0	3	1	0	0	3	1	5	3	5	2	3	2	1	0	3	2	5	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:52853785C>T	uc011bem.2	-	15	1979	c.1951G>A	c.(1951-1953)Gga>Aga	p.G651R	ITIH4_uc011bel.2_Intron|ITIH4_uc003dfy.3_Intron|ITIH4_uc003dfz.3_Missense_Mutation_p.G646R|ITIH4_uc011ben.2_Intron	NM_002218	NP_002209	Q14624	ITIH4_HUMAN	Homo sapiens inter-alpha-trypsin inhibitor heavy chain family, member 4 (ITIH4), transcript variant 1, mRNA.	646					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTATTCCATCCTCTTCTTGGA	0.547													T	52853785	C	T	52853785	3	4	276	1	0	0	0	0	1	0	0	0	7964	690	24	2	892	2	ITIH4	3	52853785	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	49777346	52853785	145168645	19	19393											
ROBO1	6091	broad.mit.edu	37	chr3	78683176	78683176	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatagttggaggaactgtGtcatttgctcgataatctag	10	13	13	5	1	2	0	1	0	1	0	3	4	2	3	0	3	2	2	0	3	4	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:78683176G>A	uc003dqe.2	-	23	3598	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	ROBO1_uc003dqc.2_Silent_p.D1030D|ROBO1_uc003dqd.2_Silent_p.D1085D|ROBO1_uc003dqb.2_Silent_p.D1091D|ROBO1_uc010hoh.2_Silent_p.D322D|ROBO1_uc011bgl.1_Silent_p.D702D	NM_002941	NP_002932	Q9Y6N7	ROBO1_HUMAN	Homo sapiens roundabout, axon guidance receptor, homolog 1 (Drosophila) (ROBO1), transcript variant 1, mRNA.	1130					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GAGGAACTGTGTCATTTGCTC	0.393													A	78683176	G	A	78683176	2	1	276	1	0	0	0	0	0	0	0	1	13604	1368	48	2		2	ROBO1	3	78683176	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	25829391	78683176	119339254	20	19394											
ARL6	84100	broad.mit.edu	37	chr3	97499015	97499015	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttaaaggctcaatctcaaAatatccttccaacaatagga	16	11	4	10	0	3	0	2	0	2	0	6	1	5	1	2	2	1	1	2	2	9	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:97499015A>T	uc003drv.3	+	3	449	c.136A>T	c.(136-138)Aat>Tat	p.N46Y	ARL6_uc003drw.3_Non-coding_Transcript|ARL6_uc003dru.3_Missense_Mutation_p.N46Y|ARL6_uc010hoy.3_Missense_Mutation_p.N46Y	NM_177976	NP_816931	Q9H0F7	ARL6_HUMAN	Homo sapiens ADP-ribosylation factor-like 6 (ARL6), transcript variant 2, mRNA.	46					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TCAATCTCAAAATATCCTTCC	0.308													T	97499015	A	T	97499015	3	4	276	1	0	0	0	0	1	0	0	0	946	14	1	5	142	5	ARL6	3	97499015	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	18815839	97499015	100523415	21	19395											
NPHP3	27031	broad.mit.edu	37	chr3	132432101	132432101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatatcccattgtctcGcacattctcttaagtttagg	13	14	5	9	1	2	0	0	0	2	0	5	0	3	0	1	1	0	2	1	1	6	6	rs138124482		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:132432101G>A	uc003epe.2	-	5	1091	c.987C>T	c.(985-987)tgC>tgT	p.C329C	NPHP3_uc003epf.2_Silent_p.C84C	NM_153240	NP_694972	Q7Z494	NPHP3_HUMAN	Homo sapiens nephronophthisis 3 (adolescent) (NPHP3), mRNA.	329					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	p.M328L(1)		NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCATTGTCTCGCACATTCTCT	0.289													A	132432101	G	A	132432101	2	1	276	1	0	0	0	0	0	0	0	1	10656	1079	38	1		1	NPHP3	3	132432101	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	34933086	132432101	65590329	22	19396											
KIAA0226	9711	broad.mit.edu	37	chr3	197431552	197431552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcagcactgctctggtcGttctcgtgcacgctgatgaa	7	11	10	13	3	3	2	1	2	2	0	5	2	3	2	1	1	3	5	1	1	1	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr3:197431552G>A	uc003fyc.2	-	3	507	c.324C>T	c.(322-324)aaC>aaT	p.N108N	KIAA0226_uc003fyd.3_Silent_p.N48N|KIAA0226_uc003fye.1_5'Flank|KIAA0226_uc003fyf.3_5'UTR|KIAA0226_uc003fyg.3_Silent_p.N101N	NM_014687	NP_055502	Q92622	RUBIC_HUMAN	Homo sapiens KIAA0226 (KIAA0226), transcript variant 2, mRNA.	108	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TGCTCTGGTCGTTCTCGTGCA	0.567													A	197431552	G	A	197431552	2	1	276	1	0	0	0	0	0	0	0	1	8220	1136	40	1		1	KIAA0226	3	197431552	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	64999451	197431552	590878	23	19397											
TACC3	10460	broad.mit.edu	37	chr4	1729779	1729779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacaaagcggagactcCgcacggagccgaggaagaat	14	2	13	12	4	0	2	0	0	0	2	1	6	1	4	3	3	3	2	3	3	3	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:1729779C>T	uc003gdo.3	+	3	805	c.650C>T	c.(649-651)cCg>cTg	p.P217L	TACC3_uc010ibz.3_Missense_Mutation_p.P217L|TACC3_uc003gdp.3_Intron	NM_006342	NP_006333	Q9Y6A5	TACC3_HUMAN	Homo sapiens transforming, acidic coiled-coil containing protein 3 (TACC3), mRNA.	217						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GCGGAGACTCCGCACGGAGCC	0.597													T	1729779	C	T	1729779	3	4	276	1	0	0	0	0	1	0	0	0	15600	652	23	1	660	1	TACC3	4	1729779	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		1729779	189424497	24	19398											
SLIT2	9353	broad.mit.edu	37	chr4	20597371	20597371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgacatcgattttgaCgactgccaagacaacaagtg	13	8	9	11	3	0	2	0	1	0	1	1	5	0	2	1	0	3	0	1	0	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:20597371C>T	uc003gpr.1	+	30	3438	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_uc003gps.1_Silent_p.D1070D	NM_004787	NP_004778	O94813	SLIT2_HUMAN	Homo sapiens slit homolog 2 (Drosophila) (SLIT2), mRNA.	1078	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1078D(2)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													T	20597371	C	T	20597371	2	4	276	1	0	0	0	0	0	0	0	1	14834	535	19	1		1	SLIT2	4	20597371	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	18867592	20597371	170556905	25	19399											
PALLD	23022	broad.mit.edu	37	chr4	169845564	169845564	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcactcacagcactgacCgagtgaggtaagactgcaca	13	6	9	13	1	2	3	2	2	0	1	2	4	2	3	1	1	2	3	1	1	1	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr4:169845564C>T	uc011cjx.2	+	18	3428	c.3217C>T	c.(3217-3219)Cga>Tga	p.R1073*	CBR4_uc011cjy.2_Intron|PALLD_uc003iru.3_Nonsense_Mutation_p.R1056*|PALLD_uc003irv.3_Nonsense_Mutation_p.R674*|PALLD_uc003irw.3_Nonsense_Mutation_p.R569*|PALLD_uc003irx.3_Nonsense_Mutation_p.R282*	NM_001166108	NP_001159580	Q8WX93	PALLD_HUMAN	Homo sapiens palladin, cytoskeletal associated protein (PALLD), transcript variant 1, mRNA.	1280	Ig-like C2-type 3.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCACTGACCGAGTGAGGTA	0.418									Pancreatic Cancer, Familial Clustering of				T	169845564	C	T	169845564	4	4	276	1	0	0	0	0	0	1	0	0	11483	644	23	1	3794	1	PALLD	4	169845564	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	149248193	169845564	21308712	26	19400											
EDIL3	10085	broad.mit.edu	37	chr5	83402578	83402578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggagtccaaaaagagctcgGtgagtagaggaagctgtgat	13	8	15	5	1	0	4	0	2	0	2	2	6	1	6	1	3	2	3	1	3	4	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:83402578G>T	uc003kio.1	-	5	959	c.540C>A	c.(538-540)caC>caA	p.H180Q	EDIL3_uc003kip.1_Missense_Mutation_p.H170Q	NM_005711	NP_005702	O43854	EDIL3_HUMAN	Homo sapiens EGF-like repeats and discoidin I-like domains 3 (EDIL3), mRNA.	180	F5/8 type C 1.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	p.H180H(2)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		AAAGAGCTCGGTGAGTAGAGG	0.418													T	83402578	G	T	83402578	3	4	276	1	0	0	0	0	1	0	0	0	4954	1252	44	4	926	4	EDIL3	5	83402578	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		83402578	97512682	27	19401											
WDR36	134430	broad.mit.edu	37	chr5	110461398	110461398	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgattgtggtgggtccataGaagttatgcagagcttcttg	8	14	13	6	0	1	3	0	1	1	2	2	3	2	3	1	2	2	3	1	2	3	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:110461398G>C	uc003kpd.3	+	21	2728	c.2611G>C	c.(2611-2613)Gaa>Caa	p.E871Q	WDR36_uc010jbu.3_Non-coding_Transcript	NM_139281	NP_644810	Q8NI36	WDR36_HUMAN	Homo sapiens WD repeat domain 36 (WDR36), mRNA.	871					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		TGGGTCCATAGAAGTTATGCA	0.443													C	110461398	G	C	110461398	3	2	276	1	0	0	0	0	1	0	0	0	17392	943	33	4	2697	4	WDR36	5	110461398	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	27058820	110461398	70453862	28	19402											
GABRA1	2554	broad.mit.edu	37	chr5	161300157	161300157	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttttccgtcaaagctGgaaggatgaaaggttaaaat	14	13	10	4	1	1	1	1	1	0	0	2	3	2	3	1	3	1	3	1	3	6	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:161300157G>A	uc010jiw.3	+	5	758	c.290G>A	c.(289-291)tGg>tAg	p.W97*	GABRA1_uc010jix.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jiy.3_Nonsense_Mutation_p.W97*|GABRA1_uc003lyx.4_Nonsense_Mutation_p.W97*|GABRA1_uc010jiz.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jja.3_Nonsense_Mutation_p.W97*|GABRA1_uc010jjb.3_Nonsense_Mutation_p.W97*	NM_000806	NP_001121120	P14867	GBRA1_HUMAN	Homo sapiens gamma-aminobutyric acid (GABA) A receptor, alpha 1 (GABRA1), transcript variant 1, mRNA.	97					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CGTCAAAGCTGGAAGGATGAA	0.363													A	161300157	G	A	161300157	4	1	276	1	0	0	0	0	0	1	0	0	6212	1357	47	2	304	2	GABRA1	5	161300157	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	50838759	161300157	19615103	29	19403											
N4BP3	23138	broad.mit.edu	37	chr5	177547670	177547670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcaagaggggccttggCgatgaggacggctccaaccc	9	5	15	12	2	1	2	1	1	0	1	2	5	2	3	3	5	2	2	3	5	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr5:177547670C>T	uc003mik.1	+	2	1069	c.822C>T	c.(820-822)ggC>ggT	p.G274G	N4BP3_uc003mil.1_5'Flank	NM_015111	NP_055926	O15049	N4BP3_HUMAN	Homo sapiens NEDD4 binding protein 3 (N4BP3), mRNA.	274						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGCCTTGGCGATGAGGACG	0.662													T	177547670	C	T	177547670	2	4	276	1	0	0	0	0	0	0	0	1	10189	755	27	1		1	N4BP3	5	177547670	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	16247513	177547670	3367590	30	19404											
BTN2A2	10385	broad.mit.edu	37	chr6	26385257	26385257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagcccagtttactgtcGtggggccagctaatcccatc	9	9	10	13	1	0	0	0	0	0	0	3	1	1	0	3	2	4	2	3	2	3	3	rs143653188	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:26385257G>A	uc003nht.3	+	2	242	c.109G>A	c.(109-111)Gtg>Atg	p.V37M	BTN2A2_uc003nhs.3_Missense_Mutation_p.V37M|BTN2A2_uc011dkf.2_Intron|BTN2A2_uc003nhq.3_Missense_Mutation_p.V37M|BTN2A2_uc003nhr.3_Intron|BTN2A2_uc011dkh.2_Intron|BTN2A2_uc011dkg.2_Missense_Mutation_p.V37M	NM_001197237	NP_001184166	Q8WVV5	BT2A2_HUMAN	Homo sapiens butyrophilin, subfamily 2, member A2 (BTN2A2), transcript variant 3, mRNA.	37	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						GTTTACTGTCGTGGGGCCAGC	0.463													A	26385257	G	A	26385257	3	1	276	1	0	0	0	0	1	0	0	0	1571	1145	40	1	115	1	BTN2A2	6	26385257	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		26385257	144729810	31	19405											
CUL9	23113	broad.mit.edu	37	chr6	43160945	43160945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcaggctgggctggCggtgagtacattgggcctgg	5	8	20	8	1	0	1	0	1	0	0	0	1	0	1	1	7	3	5	1	7	1	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:43160945C>T	uc003ouk.3	+	9	2463	c.2388_splice	c.e9+1	p.A796_splice	CUL9_uc003oul.3_Splice_Site_p.A796_splice|CUL9_uc010jyk.3_Splice_Site	NM_015089	NP_055904	Q8IWT3	CUL9_HUMAN	Homo sapiens cullin 9 (CUL9), mRNA.	796					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GCTGGGCTGGCGGTGAGTACA	0.567													T	43160945	C	T	43160945	3	4	276	1	0	0	0	0	1	0	0	0	4094	782	27	1	2417	1	CUL9	6	43160945	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	16775688	43160945	127954122	32	19406											
BCKDHB	594	broad.mit.edu	37	chr6	80838915	80838915	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgcctttggtggagtcttTagatgcactgttggcttgcg	4	16	14	7	1	1	1	0	0	1	1	1	2	1	2	1	3	3	4	1	3	1	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:80838915T>C	uc003pjd.2	+	2	379	c.312T>C	c.(310-312)ttT>ttC	p.F104F	BCKDHB_uc003pje.2_Silent_p.F104F	NM_000056	NP_898871	P21953	ODBB_HUMAN	Homo sapiens branched chain keto acid dehydrogenase E1, beta polypeptide (BCKDHB), nuclear gene encoding mitochondrial protein, transcript variant 2, mRNA.	104					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		GTGGAGTCTTTAGATGCACTG	0.264													C	80838915	T	C	80838915	2	2	276	1	0	0	0	0	0	0	0	1	1365	1751	61	3		3	BCKDHB	6	80838915	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	37677970	80838915	90276152	33	19407											
AHI1	54806	broad.mit.edu	37	chr6	135748441	135748441	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagaatacatggctacttgTtctcctaaataaaaagagag	16	11	7	7	0	2	2	1	0	1	2	3	3	2	2	1	1	2	2	1	1	8	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:135748441T>C	uc003qgi.3	-	19	3012	c.2628A>G	c.(2626-2628)gaA>gaG	p.E876E	AHI1_uc003qgf.3_Non-coding_Transcript|AHI1_uc003qgg.3_Silent_p.E326E|AHI1_uc003qgh.3_Silent_p.E876E|AHI1_uc003qgj.3_Silent_p.E876E|AHI1_uc003qgk.4_Non-coding_Transcript|AHI1_uc003qgl.3_Silent_p.E876E	NM_001134831	NP_060121	Q8N157	AHI1_HUMAN	Homo sapiens Abelson helper integration site 1 (AHI1), transcript variant 1, mRNA.	876						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TGGCTACTTGTTCTCCTAAAT	0.323													C	135748441	T	C	135748441	2	2	276	1	0	0	0	0	0	0	0	1	413	1722	60	3		3	AHI1	6	135748441	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	54909526	135748441	35366626	34	19408											
RPS6KA2	6196	broad.mit.edu	37	chr6	166912027	166912027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggaccaccagtcggcaCtctgcgtgtgtcctcgccgg	6	7	13	15	5	1	0	0	0	1	0	4	2	2	1	4	3	1	1	4	3	1	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr6:166912027C>T	uc003qvd.1	-	9	904	c.791G>A	c.(790-792)aGt>aAt	p.S264N	RPS6KA2_uc011ego.1_Missense_Mutation_p.S150N|RPS6KA2_uc010kkl.1_Missense_Mutation_p.S150N|RPS6KA2_uc003qvb.1_Missense_Mutation_p.S239N|RPS6KA2_uc003qvc.1_Missense_Mutation_p.S247N	NM_021135	NP_066958	Q15349	KS6A2_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 2 (RPS6KA2), transcript variant 1, mRNA.	239	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)		CCAGTCGGCACTCTGCGTGTG	0.637													T	166912027	C	T	166912027	3	4	276	1	0	0	0	0	1	0	0	0	13742	565	20	2	1541	2	RPS6KA2	6	166912027	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	31163586	166912027	4203040	35	19409											
IKZF1	10320	broad.mit.edu	37	chr7	50358674	50358674	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccatggatgctgatgaggGtcaagacatgtcccaagttt	11	10	12	8	0	1	3	1	2	0	1	2	5	2	4	2	2	1	2	2	2	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:50358674G>T	uc003tow.4	+	1	172	c.17G>T	c.(16-18)gGt>gTt	p.G6V	IKZF1_uc022acq.1_Missense_Mutation_p.G6V|IKZF1_uc003tpa.4_Missense_Mutation_p.G6V|IKZF1_uc022acr.1_Missense_Mutation_p.G6V|IKZF1_uc022acs.1_Missense_Mutation_p.G6V|IKZF1_uc022act.1_Missense_Mutation_p.G6V|IKZF1_uc022acu.1_Missense_Mutation_p.G6V|IKZF1_uc003tox.4_Missense_Mutation_p.G6V|IKZF1_uc022acv.1_Missense_Mutation_p.G6V|IKZF1_uc022acw.1_Missense_Mutation_p.G6V|IKZF1_uc022acx.1_Missense_Mutation_p.G6V|IKZF1_uc022acy.1_Missense_Mutation_p.G6V|IKZF1_uc022acz.1_Missense_Mutation_p.G6V|IKZF1_uc011kck.2_Missense_Mutation_p.G6V|IKZF1_uc003toy.4_Missense_Mutation_p.G6V|IKZF1_uc003tov.1_Missense_Mutation_p.G6V	NM_006060	NP_006051	Q13422	IKZF1_HUMAN	Homo sapiens IKAROS family zinc finger 1 (Ikaros) (IKZF1), transcript variant 1, mRNA.	6					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(41)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				GCTGATGAGGGTCAAGACATG	0.433			"D,T"	BCL6	"ALL, DLBCL"								T	50358674	G	T	50358674	3	4	276	1	0	0	0	0	1	0	0	0	7672	1261	44	4	19	4	IKZF1	7	50358674	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		50358674	108779989	36	19410											
SEPT14	346288	broad.mit.edu	37	chr7	55912359	55912359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggatttgttatctttcaaGttagtattaaacaatgtgtc	12	17	8	4	0	2	0	1	0	1	0	3	2	2	1	0	1	1	3	0	1	7	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:55912359G>A	uc003tqz.2	-	3	345	c.228C>T	c.(226-228)aaC>aaT	p.N76N		NM_207366	NP_997249	Q6ZU15	SEP14_HUMAN	Homo sapiens septin 14 (SEPT14), mRNA.	76					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATCTTTCAAGTTAGTATTAA	0.353													A	55912359	G	A	55912359	2	1	276	1	0	0	0	0	0	0	0	1	14156	1020	36	2		2	SEPT14	7	55912359	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	5553685	55912359	103226304	37	19411											
EIF4H	7458	broad.mit.edu	37	chr7	73609098	73609098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacttcttagggggcaGgggaggtagtcgcccaggcg	7	7	19	8	2	1	1	0	1	1	0	2	3	1	3	1	7	0	2	1	7	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:73609098G>A	uc003uad.1	+	5	505	c.497G>A	c.(496-498)aGg>aAg	p.R166K	EIF4H_uc003uae.1_Missense_Mutation_p.R146K	NM_022170	NP_071496	Q15056	IF4H_HUMAN	Homo sapiens eukaryotic translation initiation factor 4H (EIF4H), transcript variant 1, mRNA.	166					interspecies interaction between organisms|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex|perinuclear region of cytoplasm	nucleotide binding|protein binding|translation initiation factor activity			endometrium(1)|lung(2)|prostate(1)	4						TTAGGGGGCAGGGGAGGTAGT	0.542													A	73609098	G	A	73609098	3	1	276	1	0	0	0	0	1	0	0	0	5080	1000	35	2	519	2	EIF4H	7	73609098	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	17696739	73609098	85529565	38	19412											
MUC17	140453	broad.mit.edu	37	chr7	100683326	100683326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaacaagtatacctgtcAgcaccacgccggtggccagt	11	9	9	12	2	1	0	1	0	0	0	1	0	1	0	4	2	3	2	4	2	5	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:100683326A>G	uc003uxp.1	+	2	8682	c.8629A>G	c.(8629-8631)Agc>Ggc	p.S2877G	MUC17_uc010lho.1_Non-coding_Transcript	NM_001040105	NP_001035194	Q685J3	MUC17_HUMAN	Homo sapiens mucin 17, cell surface associated (MUC17), mRNA.	2877	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)					TATACCTGTCAGCACCACGCC	0.478													G	100683326	A	G	100683326	3	3	276	1	0	0	0	0	1	0	0	0	10050	188	7	3	8639	3	MUC17	7	100683326	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	27074228	100683326	58455337	39	19413											
RELN	5649	broad.mit.edu	37	chr7	103338368	103338368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgagactatcttctaaaaCgacttgtctgtgagctgaat	11	13	9	8	2	3	3	0	2	3	1	4	5	3	3	0	0	2	1	0	0	4	4	rs114926265	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:103338368C>T	uc022ajr.1	-	9	1235	c.1075G>A	c.(1075-1077)Gtt>Att	p.V359I	RELN_uc022ajq.1_Missense_Mutation_p.V359I|RELN_uc010liz.3_Missense_Mutation_p.V359I	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	359					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTTCTAAAACGACTTGTCTG	0.428													T	103338368	C	T	103338368	3	4	276	1	0	0	0	0	1	0	0	0	13308	536	19	1	9531	1	RELN	7	103338368	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	2655042	103338368	55800295	40	19414											
SLC26A3	1811	broad.mit.edu	37	chr7	107415299	107415299	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgcgcttgcgtagaattcGaagtggactaaagccaacct	11	10	11	9	3	0	1	0	0	0	1	1	3	0	2	2	1	4	3	2	1	6	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:107415299G>A	uc003ver.2	-	15	1907	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*	SLC26A3_uc003ves.2_Nonsense_Mutation_p.R531*	NM_000111	NP_000102	P40879	S26A3_HUMAN	Homo sapiens solute carrier family 26, member 3 (SLC26A3), mRNA.	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CGTAGAATTCGAAGTGGACTA	0.398													A	107415299	G	A	107415299	4	1	276	1	0	0	0	0	0	1	0	0	14612	1066	37	1	622	1	SLC26A3	7	107415299	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	4076931	107415299	51723364	41	19415											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558926	113558926	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaatcagaacctcgtctActtggttgaggggagaaacc	13	8	12	8	1	2	4	1	1	1	3	3	6	2	4	2	3	3	1	2	3	5	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:113558926A>C	uc010ljy.1	-	0	157	c.126T>G	c.(124-126)agT>agG	p.S42R		NM_002711	NP_002702	Q16821	PPR3A_HUMAN	Homo sapiens protein phosphatase 1, regulatory subunit 3A (PPP1R3A), mRNA.	42					glycogen metabolic process	integral to membrane		p.S42R(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AACCTCGTCTACTTGGTTGAG	0.373													C	113558926	A	C	113558926	3	2	276	1	0	0	0	0	1	0	0	0	12453	388	14	5	3258	5	PPP1R3A	7	113558926	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08	6143627	113558926	45579737	42	19416											
IMPDH1	3614	broad.mit.edu	37	chr7	128034510	128034510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagtctcagcactcacCgaaggacagacaggctgcgg	10	4	11	16	2	2	1	2	0	1	1	3	3	2	2	3	3	2	2	3	3	1	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr7:128034510C>T	uc011kol.1	-	12	1545	c.1439_splice	c.e12+1	p.R480_splice	IMPDH1_uc011kom.1_Splice_Site_p.R475_splice|IMPDH1_uc003vmt.2_Splice_Site_p.R455_splice|IMPDH1_uc003vmu.2_Splice_Site_p.R565_splice|IMPDH1_uc003vmx.2_Splice_Site_p.R488_splice|IMPDH1_uc003vmy.2_Splice_Site_p.R496_splice|IMPDH1_uc003vmw.2_Splice_Site_p.R555_splice|IMPDH1_uc011kon.1_Splice_Site_p.R532_splice|IMPDH1_uc003vmv.2_Splice_Site_p.R529_splice|DQ596753_uc022akz.1_5'Flank|DQ595173_uc022ala.1_5'Flank	NM_001142573	NP_001136045	P20839	IMDH1_HUMAN	Homo sapiens IMP (inosine 5'-monophosphate) dehydrogenase 1 (IMPDH1), transcript variant 5, mRNA.	480					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CAGCACTCACCGAAGGACAGA	0.582													T	128034510	C	T	128034510	3	4	276	1	0	0	0	0	1	0	0	0	7784	666	23	1	117	1	IMPDH1	7	128034510	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	14475584	128034510	31104153	43	19417											
KCNB2	9312	broad.mit.edu	37	chr8	73849104	73849104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtcggaaacaagctccaAcaagtctttcgagaataagt	14	10	8	9	2	2	1	0	0	2	1	5	3	3	2	1	1	3	1	1	1	6	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:73849104A>T	uc003xzb.3	+	2	2102	c.1514A>T	c.(1513-1515)aAc>aTc	p.N505I		NM_004770	NP_004761	Q92953	KCNB2_HUMAN	Homo sapiens potassium voltage-gated channel, Shab-related subfamily, member 2 (KCNB2), mRNA.	505					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.S504S(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ACAAGCTCCAACAAGTCTTTC	0.562													T	73849104	A	T	73849104	3	4	276	1	0	0	0	0	1	0	0	0	8071	43	2	5	1520	5	KCNB2	8	73849104	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		73849104	72514918	44	19418											
CSMD3	114788	broad.mit.edu	37	chr8	113256734	113256734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtataaatcagtgtataccCatgagatggaaggtccatcc	13	10	10	8	0	1	1	1	1	0	1	3	3	3	2	3	3	1	2	3	3	6	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:113256734C>G	uc003ynu.3	-	64	10450	c.10291G>C	c.(10291-10293)Ggg>Cgg	p.G3431R	CSMD3_uc003yns.3_Missense_Mutation_p.G2633R|CSMD3_uc003ynt.3_Missense_Mutation_p.G3391R|CSMD3_uc011lhx.2_Missense_Mutation_p.G3262R	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	3431	Sushi 28.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGTGTATACCCATGAGATGGA	0.428										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113256734	C	G	113256734	3	3	276	1	0	0	0	0	1	0	0	0	3979	594	21	4	860	4	CSMD3	8	113256734	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	39407630	113256734	33107288	45	19419											
GPR20	2843	broad.mit.edu	37	chr8	142367058	142367058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatgctgaccacgtcaccGctgctgggctcacgctctcc	5	9	10	17	3	3	1	2	1	1	0	4	1	3	1	3	1	3	6	3	1	0	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr8:142367058G>A	uc022bby.1	-	0	966	c.966C>T	c.(964-966)agC>agT	p.S322S	GPR20_uc003ywf.3_Silent_p.S322S	NM_005293	NP_005284	Q99678	GPR20_HUMAN	Homo sapiens G protein-coupled receptor 20 (GPR20), mRNA.	322						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CCACGTCACCGCTGCTGGGCT	0.657													A	142367058	G	A	142367058	2	1	276	1	0	0	0	0	0	0	0	1	6734	1078	38	1		1	GPR20	8	142367058	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	29110324	142367058	3996964	46	19420											
TMEM2	23670	broad.mit.edu	37	chr9	74319626	74319626	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtggaaaggcagccttctGattaatacctcggagcacca	11	9	10	11	1	1	1	0	1	1	0	2	3	1	3	3	3	3	2	3	3	3	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:74319626G>A	uc011lsa.1	-	17	3619	c.3079C>T	c.(3079-3081)Cag>Tag	p.Q1027*	TMEM2_uc011lrz.1_Nonsense_Mutation_p.Q20*|TMEM2_uc010mos.2_Nonsense_Mutation_p.Q964*|TMEM2_uc011lsb.1_Non-coding_Transcript	NM_013390	NP_037522	Q9UHN6	TMEM2_HUMAN	Homo sapiens transmembrane protein 2 (TMEM2), transcript variant 1, mRNA.	1027						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GCAGCCTTCTGATTAATACCT	0.483													A	74319626	G	A	74319626	4	1	276	1	0	0	0	0	0	1	0	0	16221	1299	45	2	1100	2	TMEM2	9	74319626	Nonsense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		74319626	66893805	47	19421											
ZNF883	169834	broad.mit.edu	37	chr9	115760403	115760403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggtaaaggacttaccaCatattttacattcataaggt	13	13	7	8	1	1	0	1	0	0	0	2	1	2	1	2	3	2	1	2	3	6	7			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760403C>T	uc011lwy.2	-	4	1376	c.137G>A	c.(136-138)tGt>tAt	p.C46Y		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	46					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										GGACTTACCACATATTTTACA	0.373													T	115760403	C	T	115760403	3	4	276	1	0	0	0	0	1	0	0	0	18297	478	17	2	1004	2	ZNF883	9	115760403	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	41440777	115760403	25453028	48	19422											
ZNF883	169834	broad.mit.edu	37	chr9	115760511	115760511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacagagatatgggttcGcggtcatataaattttctca	12	13	9	7	2	2	1	2	0	1	1	4	2	2	1	0	2	1	2	0	2	5	7			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:115760511G>A	uc011lwy.2	-	4	1268	c.29C>T	c.(28-30)gCg>gTg	p.A10V		NM_001101338	NP_001094808	P0CG24	ZN883_HUMAN	Homo sapiens zinc finger protein 883 (ZNF883), mRNA.	10					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										ATATGGGTTCGCGGTCATATA	0.368													A	115760511	G	A	115760511	3	1	276	1	0	0	0	0	1	0	0	0	18297	1087	38	1	1112	1	ZNF883	9	115760511	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	108	115760511	25452920	49	19423											
PRPF4	9128	broad.mit.edu	37	chr9	116038922	116038922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaaggagagggagcGtctggccaaaggagagtctg	13	4	19	5	1	2	3	0	0	2	3	2	8	2	5	1	5	1	0	1	5	3	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:116038922G>A	uc004bgx.3	+	1	235	c.125G>A	c.(124-126)cGt>cAt	p.R42H	FKBP15_uc010muu.1_5'Flank|CDC26_uc004bgw.2_5'Flank|PRPF4_uc004bgy.3_Missense_Mutation_p.R41H	NM_004697	NP_004688	O43172	PRP4_HUMAN	Homo sapiens PRP4 pre-mRNA processing factor 4 homolog (yeast) (PRPF4), transcript variant 1, mRNA.	42						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GAGAGGGAGCGTCTGGCCAAA	0.458													A	116038922	G	A	116038922	3	1	276	1	0	0	0	0	1	0	0	0	12656	1145	40	1	131	1	PRPF4	9	116038922	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	278411	116038922	25174509	50	19424											
PKN3	29941	broad.mit.edu	37	chr9	131482499	131482499	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctccagaagtgcccGgagaagcgcctcggggcagg	8	4	15	14	3	0	2	0	0	0	2	3	3	2	2	4	4	3	2	4	4	2	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:131482499G>A	uc004bvw.3	+	20	2787	c.2394G>A	c.(2392-2394)ccG>ccA	p.P798P	PKN3_uc010myh.3_Silent_p.P798P|PKN3_uc022bom.1_Non-coding_Transcript	NM_013355	NP_037487	Q6P5Z2	PKN3_HUMAN	Homo sapiens protein kinase N3 (PKN3), mRNA.	798	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						AGAAGTGCCCGGAGAAGCGCC	0.657													A	131482499	G	A	131482499	2	1	276	1	0	0	0	0	0	0	0	1	12058	1103	39	1		1	PKN3	9	131482499	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	15443577	131482499	9730932	51	19425											
KCNT1	57582	broad.mit.edu	37	chr9	138662162	138662162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggagggacaggagtctccGgagcagtggcagcgcatgta	10	5	18	8	2	1	0	0	0	1	0	2	4	1	4	1	5	2	4	1	5	1	1	rs138352399	byFrequency	TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr9:138662162G>A	uc011mdq.2	+	16	1712	c.1638G>A	c.(1636-1638)ccG>ccA	p.P546P	KCNT1_uc011mdr.2_Silent_p.P373P|KCNT1_uc010nbf.3_Silent_p.P501P|KCNT1_uc004cgo.1_Silent_p.P295P	NM_020822	NP_065873	B7ZVY4	B7ZVY4_HUMAN	Homo sapiens potassium channel, subfamily T, member 1 (KCNT1), mRNA.	546						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		AGGAGTCTCCGGAGCAGTGGC	0.682													A	138662162	G	A	138662162	2	1	276	1	0	0	0	0	0	0	0	1	8149	1103	39	1		1	KCNT1	9	138662162	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	7179663	138662162	2551269	52	19426											
OPTN	10133	broad.mit.edu	37	chr10	13174131	13174131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagaaaattcatgaggaaaAggagcaactggcattgcagc	17	6	12	6	0	1	2	1	1	0	1	1	5	1	4	0	3	4	3	0	3	5	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:13174131A>G	uc001ilu.1	+	13	1904	c.1466A>G	c.(1465-1467)aAg>aGg	p.K489R	OPTN_uc001ilv.1_Missense_Mutation_p.K489R|OPTN_uc001ilw.1_Missense_Mutation_p.K489R|OPTN_uc001ilx.1_Missense_Mutation_p.K489R|OPTN_uc001ily.1_Missense_Mutation_p.K483R|OPTN_uc010qbr.1_Missense_Mutation_p.K432R	NM_001008213	NP_068815	Q96CV9	OPTN_HUMAN	Homo sapiens optineurin (OPTN), transcript variant 4, mRNA.	489	Interaction with HD.|Interaction with MYO6.				cell death|Golgi ribbon formation|Golgi to plasma membrane protein transport|protein targeting to Golgi|signal transduction	perinuclear region of cytoplasm|trans-Golgi network	protein C-terminus binding			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						CATGAGGAAAAGGAGCAACTG	0.443													G	13174131	A	G	13174131	3	3	276	1	0	0	0	0	1	0	0	0	10965	72	3	3	1508	3	OPTN	10	13174131	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		13174131	122360616	53	19427											
CCDC7	221016	broad.mit.edu	37	chr10	32780862	32780862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aataatagaaactgctcattCaatgactaatcgatttaatg	17	13	5	6	1	2	2	2	1	0	1	3	3	2	2	0	0	2	1	0	0	7	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:32780862C>T	uc001iwj.3	+	9	1379	c.809C>T	c.(808-810)tCa>tTa	p.S270L	CCDC7_uc009xlu.2_Intron|CCDC7_uc001iwk.3_Missense_Mutation_p.S270L|CCDC7_uc009xlv.3_Intron|CCDC7_uc009xly.1_Intron|CCDC7_uc009xlw.1_Non-coding_Transcript|CCDC7_uc009xlx.1_Intron	NM_145023	NP_659460	Q96M83	CCDC7_HUMAN	Homo sapiens coiled-coil domain containing 7 (CCDC7), transcript variant 1, mRNA.	270										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				ACTGCTCATTCAATGACTAAT	0.264													T	32780862	C	T	32780862	3	4	276	1	0	0	0	0	1	0	0	0	2870	838	29	2	843	2	CCDC7	10	32780862	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	19606731	32780862	102753885	54	19428											
SLC18A3	6572	broad.mit.edu	37	chr10	50819867	50819867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcagtggctgtacggcGcgcttgggctggctgtgatc	4	10	16	11	3	0	1	0	1	0	0	1	1	0	1	1	4	2	6	1	4	1	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:50819867G>A	uc001jhw.3	+	0	1521	c.1081G>A	c.(1081-1083)Gcg>Acg	p.A361T	CHAT_uc001jhv.1_Intron|CHAT_uc001jhx.1_5'Flank|CHAT_uc001jhy.1_5'Flank|CHAT_uc001jia.2_5'Flank|CHAT_uc001jhz.2_5'Flank|CHAT_uc010qgs.1_5'Flank	NM_003055	NP_003046	Q16572	VACHT_HUMAN	Homo sapiens solute carrier family 18 (vesicular acetylcholine), member 3 (SLC18A3), mRNA.	361					neurotransmitter secretion	clathrin sculpted acetylcholine transport vesicle membrane|integral to plasma membrane|membrane fraction	acetylcholine transmembrane transporter activity	p.A361V(1)|p.A361A(1)		endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCTGTACGGCGCGCTTGGGCT	0.687													A	50819867	G	A	50819867	3	1	276	1	0	0	0	0	1	0	0	0	14521	1087	38	1	1083	1	SLC18A3	10	50819867	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	18039005	50819867	84714880	55	19429											
LIPF	8513	broad.mit.edu	37	chr10	90428330	90428330	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaggccagagacctgttgTgtttttgcagcatggtttgc	6	15	12	8	0	0	1	0	0	0	1	0	2	0	1	2	2	3	5	2	2	1	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:90428330T>A	uc001kfg.2	+	3	353	c.239T>A	c.(238-240)gTg>gAg	p.V80E	LIPF_uc009xtk.3_Missense_Mutation_p.V80E|LIPF_uc001kfh.2_Intron|LIPF_uc010qmt.2_Missense_Mutation_p.V90E|LIPF_uc010qmu.2_Intron	NM_004190	NP_004181	P07098	LIPG_HUMAN	Homo sapiens lipase, gastric (LIPF), transcript variant 2, mRNA.	80					lipid catabolic process|triglyceride metabolic process	extracellular region	lipid binding|triglyceride lipase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(6)	13		Colorectal(252;0.0161)		Colorectal(12;3.91e-05)|COAD - Colon adenocarcinoma(12;5.43e-05)		AGACCTGTTGTGTTTTTGCAG	0.408													A	90428330	T	A	90428330	3	1	276	1	0	0	0	0	1	0	0	0	8883	1696	59	5	249	5	LIPF	10	90428330	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	39608463	90428330	45106417	56	19430											
DMBT1	1755	broad.mit.edu	37	chr10	124395540	124395540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaactatgattatattgaAgttttcgatggcccctaccg	10	14	8	9	2	0	2	0	2	0	0	1	3	0	2	3	1	3	2	3	1	6	7			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr10:124395540A>G	uc001lgk.1	+	49	6301	c.6195A>G	c.(6193-6195)gaA>gaG	p.E2065E	DMBT1_uc001lgl.1_Silent_p.E2055E|DMBT1_uc001lgm.1_Silent_p.E1437E|DMBT1_uc021qaf.1_Silent_p.E2065E|DMBT1_uc021qag.1_Silent_p.E2055E|DMBT1_uc021qah.1_Silent_p.E1437E|DMBT1_uc009xzz.1_Silent_p.E2064E|DMBT1_uc010qtx.1_Silent_p.E785E|DMBT1_uc009yab.1_Silent_p.E768E|DMBT1_uc009yac.1_Silent_p.E359E	NM_007329	NP_015568	Q9UGM3	DMBT1_HUMAN	Homo sapiens deleted in malignant brain tumors 1 (DMBT1), transcript variant 2, mRNA.	2065	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATATTGAAGTTTTCGATG	0.507													G	124395540	A	G	124395540	2	3	276	1	0	0	0	0	0	0	0	1	4616	69	3	3		3	DMBT1	10	124395540	Silent	SNP	A	TCGA-76-6660-01A-11D-1845-08	33967210	124395540	11139207	57	19431											
NLRP14	338323	broad.mit.edu	37	chr11	7083705	7083705	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtgtgatgctttgagAtatccaaactgtaacattca	12	15	7	7	0	2	2	1	2	1	1	3	3	3	2	1	0	3	2	1	0	3	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:7083705A>G	uc001mfb.1	+	9	3269	c.2946A>G	c.(2944-2946)agA>agG	p.R982R		NM_176822	NP_789792	Q86W24	NAL14_HUMAN	Homo sapiens NLR family, pyrin domain containing 14 (NLRP14), mRNA.	982					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATGCTTTGAGATATCCAAACT	0.403													G	7083705	A	G	7083705	2	3	276	1	0	0	0	0	0	0	0	1	10552	330	12	3		3	NLRP14	11	7083705	Silent	SNP	A	TCGA-76-6660-01A-11D-1845-08		7083705	127922811	58	19432											
RNF141	50862	broad.mit.edu	37	chr11	10536581	10536581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccagtcatctgtaggCgacaaatagggcaattcctg	10	11	10	10	1	2	0	1	0	1	0	4	1	4	0	2	2	1	3	2	2	4	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:10536581C>T	uc001mis.1	-	5	728	c.575G>A	c.(574-576)cGc>cAc	p.R192H	RNF141_uc009yga.1_Non-coding_Transcript	NM_016422	NP_057506	Q8WVD5	RN141_HUMAN	Homo sapiens ring finger protein 141 (RNF141), mRNA.	192							zinc ion binding	p.R192H(2)		breast(1)|endometrium(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9				all cancers(16;4.63e-08)|Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.064)		CATCTGTAGGCGACAAATAGG	0.383													T	10536581	C	T	10536581	3	4	276	1	0	0	0	0	1	0	0	0	13535	768	27	1	121	1	RNF141	11	10536581	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	3452876	10536581	124469935	59	19433											
WT1	7490	broad.mit.edu	37	chr11	32421505	32421505	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctcacctgaatgcctcTgaagacaccgtgcgtgtgta	8	11	11	11	2	2	3	1	2	1	1	2	3	2	3	3	0	3	2	3	0	3	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:32421505T>G	uc001mtn.2	-	5	1277	c.1087A>C	c.(1087-1089)Aga>Cga	p.R363R	WT1_uc001mtl.2_Silent_p.R151R|WT1_uc001mtm.2_Silent_p.R134R|WT1_uc001mto.2_Silent_p.R363R|WT1_uc001mtq.2_Silent_p.R346R|WT1_uc009yjs.2_Non-coding_Transcript	NM_024426	NP_077744	P19544	WT1_HUMAN	Homo sapiens Wilms tumor 1 (WT1), transcript variant D, mRNA.	295					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.R362*(2)|p.R362fs*17(1)	EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			TGAATGCCTCTGAAGACACCG	0.557			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				G	32421505	T	G	32421505	2	3	276	1	0	0	0	0	0	0	0	1	17510	1588	55	5		5	WT1	11	32421505	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	21884924	32421505	102585011	60	19434											
CHRM1	1128	broad.mit.edu	37	chr11	62677224	62677224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggagtgcggtgcacggagCcagggcgcttggggatcttg	6	7	20	8	3	1	0	0	0	1	0	1	3	1	3	1	6	3	2	1	6	0	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:62677224C>T	uc021qko.1	-	0	1349	c.1349G>A	c.(1348-1350)gGc>gAc	p.G450D	CHRM1_uc001nwi.3_Missense_Mutation_p.G450D	NM_000738	NP_000729	P11229	ACM1_HUMAN	Homo sapiens cholinergic receptor, muscarinic 1 (CHRM1), mRNA.	450					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	GTGCACGGAGCCAGGGCGCTT	0.657													T	62677224	C	T	62677224	3	4	276	1	0	0	0	0	1	0	0	0	3406	739	26	2	37	2	CHRM1	11	62677224	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	30255719	62677224	72329292	61	19435											
STIP1	10963	broad.mit.edu	37	chr11	63961718	63961718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgctttgaagaagccaagCgaacctatgaggagggctta	13	7	12	9	2	0	3	0	2	0	1	0	5	0	4	3	2	3	2	3	2	6	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:63961718C>T	uc001nyk.1	+	2	424	c.277C>T	c.(277-279)Cga>Tga	p.R93*	STIP1_uc001nyj.3_Nonsense_Mutation_p.R93*|STIP1_uc010rnb.1_Intron	NM_006819	NP_006810	P31948	STIP1_HUMAN	Homo sapiens stress-induced-phosphoprotein 1 (STIP1), mRNA.	93					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						AGAAGCCAAGCGAACCTATGA	0.468													T	63961718	C	T	63961718	4	4	276	1	0	0	0	0	0	1	0	0	15381	760	27	1	287	1	STIP1	11	63961718	Nonsense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	1284494	63961718	71044798	62	19436											
GRAMD1B	57476	broad.mit.edu	37	chr11	123471245	123471245	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccggctctggcagaatgctCtccttgaaaaggtaagtacg	10	10	11	10	2	2	2	0	1	2	1	4	2	3	2	2	3	2	5	2	3	5	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr11:123471245C>G	uc001pyw.2	+	7	960	c.631C>G	c.(631-633)Ctc>Gtc	p.L211V	GRAMD1B_uc001pyx.2_Missense_Mutation_p.L204V|GRAMD1B_uc010rzw.2_Missense_Mutation_p.L164V|GRAMD1B_uc010rzx.1_Missense_Mutation_p.L164V|GRAMD1B_uc009zbe.1_Missense_Mutation_p.L200V	NM_020716	NP_065767	Q3KR37	GRM1B_HUMAN	Homo sapiens GRAM domain containing 1B (GRAMD1B), mRNA.	204						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		GCAGAATGCTCTCCTTGAAAA	0.458													G	123471245	C	G	123471245	3	3	276	1	0	0	0	0	1	0	0	0	6803	913	32	4	636	4	GRAMD1B	11	123471245	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	59509527	123471245	11535271	63	19437											
OVCH1	341350	broad.mit.edu	37	chr12	29630051	29630051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctttataatgtgcttcTctggagcacaaatgaaccaa	13	12	6	10	0	1	1	0	1	1	0	2	2	1	2	2	1	4	2	2	1	6	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:29630051T>C	uc001rix.1	-	11	1361	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G		NM_183378	NP_899234	Q7RTY7	OVCH1_HUMAN	Homo sapiens ovochymase 1 (OVCH1), mRNA.	454	CUB 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					AATGTGCTTCTCTGGAGCACA	0.393													C	29630051	T	C	29630051	3	2	276	1	0	0	0	0	1	0	0	0	11399	1551	54	3	2111	3	OVCH1	12	29630051	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08		29630051	104221844	64	19438											
H3F3C	440093	broad.mit.edu	37	chr12	31944946	31944946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcgacttctgataacgaCgaatctctcgaagcgccacg	10	8	10	13	7	2	1	0	1	2	0	5	5	2	1	1	1	2	0	1	1	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:31944946C>T	uc001rkr.3	-	0	230	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_001013699	NP_001013721	Q6NXT2	H3C_HUMAN	Homo sapiens H3 histone, family 3C (H3F3C), mRNA.	52					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CTGATAACGACGAATCTCTCG	0.582										HNSCC(67;0.2)			T	31944946	C	T	31944946	3	4	276	1	0	0	0	0	1	0	0	0	6990	536	19	1	256	1	H3F3C	12	31944946	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	2314895	31944946	101906949	65	19439											
GALNT6	11226	broad.mit.edu	37	chr12	51773383	51773383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgaatctctaaggttgttCatggcctccagcatgaggtc	9	13	10	9	0	2	2	1	2	1	0	5	2	3	2	2	3	1	3	2	3	2	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:51773383C>T	uc001ryk.2	-	1	408	c.183G>A	c.(181-183)atG>atA	p.M61I	GALNT6_uc009zma.1_Non-coding_Transcript|GALNT6_uc001ryl.1_Missense_Mutation_p.M61I|GALNT6_uc010snh.1_Missense_Mutation_p.M61I	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN	Homo sapiens UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6) (GALNT6), mRNA.	61					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAAGGTTGTTCATGGCCTCCA	0.552													T	51773383	C	T	51773383	3	4	276	1	0	0	0	0	1	0	0	0	6271	826	29	2	1725	2	GALNT6	12	51773383	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	19828437	51773383	82078512	66	19440											
OR6C1	390321	broad.mit.edu	37	chr12	55714592	55714592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctccatattagaaatttCgttcacaaccgtcagtatac	12	15	4	10	2	3	1	2	0	1	1	5	1	3	1	2	0	2	2	2	0	6	7			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:55714592C>T	uc010spi.2	+	0	209	c.209C>T	c.(208-210)tCg>tTg	p.S70L		NM_001005182	NP_001005182	Q96RD1	OR6C1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily C, member 1 (OR6C1), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TTAGAAATTTCGTTCACAACC	0.378													T	55714592	C	T	55714592	3	4	276	1	0	0	0	0	1	0	0	0	11266	893	31	1	211	1	OR6C1	12	55714592	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	3941209	55714592	78137303	67	19441											
GLT8D2	83468	broad.mit.edu	37	chr12	104387178	104387178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatacttacccaggtgcCttatgtgccacagggggtta	10	11	11	9	0	0	1	0	1	0	0	0	1	0	1	3	3	4	1	3	3	5	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr12:104387178C>G	uc001tkh.1	-	9	1429	c.872G>C	c.(871-873)aGg>aCg	p.R291T	GLT8D2_uc001tki.1_Missense_Mutation_p.R291T	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	291						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						ACCCAGGTGCCTTATGTGCCA	0.458													G	104387178	C	G	104387178	3	3	276	1	0	0	0	0	1	0	0	0	6526	681	24	4	185	4	GLT8D2	12	104387178	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	48672586	104387178	29464717	68	19442											
DCLK1	9201	broad.mit.edu	37	chr13	36686060	36686060	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcccgagtccagcttgatGgcatcggtgatatcggtgag	8	10	13	10	3	0	3	0	3	0	0	4	4	2	3	2	3	1	2	2	3	1	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36686060G>A	uc001uvf.3	-	2	952	c.669C>T	c.(667-669)gcC>gcT	p.A223A		NM_004734	NP_004725	O15075	DCLK1_HUMAN	Homo sapiens doublecortin-like kinase 1 (DCLK1), transcript variant 1, mRNA.	223	Doublecortin 2.				cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		CCAGCTTGATGGCATCGGTGA	0.488													A	36686060	G	A	36686060	2	1	276	1	0	0	0	0	0	0	0	1	4325	1335	47	2		2	DCLK1	13	36686060	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		36686060	78483818	69	19443											
SPG20	23111	broad.mit.edu	37	chr13	36909291	36909291	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaaaaatctgtactccaTttggtatcaaaatcaattca	18	12	3	8	0	4	0	3	0	1	0	5	0	5	0	1	1	1	2	1	1	9	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr13:36909291T>C	uc001uvn.3	-	2	947	c.677A>G	c.(676-678)aAt>aGt	p.N226S	SPG20_uc010ten.2_Missense_Mutation_p.N226S|SPG20_uc001uvm.3_Missense_Mutation_p.N226S|SPG20_uc001uvo.3_Missense_Mutation_p.N226S|SPG20_uc001uvq.3_Missense_Mutation_p.N226S|SPG20_uc001uvp.2_Missense_Mutation_p.N226S	NM_001142296	NP_055902	Q8N0X7	SPG20_HUMAN	Homo sapiens spastic paraplegia 20 (Troyer syndrome) (SPG20), transcript variant 2, mRNA.	226					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CTGTACTCCATTTGGTATCAA	0.423													C	36909291	T	C	36909291	3	2	276	1	0	0	0	0	1	0	0	0	15138	1493	52	3	1355	3	SPG20	13	36909291	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	223231	36909291	78260587	70	19444											
CTSG	1511	broad.mit.edu	37	chr14	25043946	25043946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggcggatggctctgcGcgcagtgatgtgttgctggg	4	10	20	7	3	1	1	0	1	1	0	1	2	1	2	0	5	2	4	0	5	0	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:25043946G>A	uc001wpq.3	-	2	311	c.274C>T	c.(274-276)Cgc>Tgc	p.R92C		NM_001911	NP_001902	P08311	CATG_HUMAN	Homo sapiens cathepsin G (CTSG), mRNA.	92	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.A91A(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		ATGGCTCTGCGCGCAGTGATG	0.532													A	25043946	G	A	25043946	3	1	276	1	0	0	0	0	1	0	0	0	4068	1087	38	1	505	1	CTSG	14	25043946	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		25043946	82305594	71	19445											
ARHGAP5	394	broad.mit.edu	37	chr14	32560334	32560334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaaatgcctgaagggaaGctcaacgtagatggattttt	14	10	11	6	1	1	2	1	1	0	1	1	4	1	4	1	2	4	3	1	2	6	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:32560334G>A	uc001wrl.3	+	1	698	c.459G>A	c.(457-459)aaG>aaA	p.K153K	ARHGAP5_uc001wrm.3_Silent_p.K153K|ARHGAP5_uc001wrn.3_Silent_p.K153K|ARHGAP5_uc001wro.3_Intron|ARHGAP5_uc001wrp.3_Intron	NM_001173	NP_001025226	Q13017	RHG05_HUMAN	Homo sapiens Rho GTPase activating protein 5 (ARHGAP5), transcript variant 2, mRNA.	153					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTGAAGGGAAGCTCAACGTAG	0.363													A	32560334	G	A	32560334	2	1	276	1	0	0	0	0	0	0	0	1	889	962	34	2		2	ARHGAP5	14	32560334	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	7516388	32560334	74789206	72	19446											
PTGDR	5729	broad.mit.edu	37	chr14	52735336	52735336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcacctcctgctgctggcGctgatgaccgtgctcttcac	5	11	10	15	2	3	2	2	2	1	0	4	3	4	2	3	1	3	4	3	1	0	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr14:52735336G>A	uc001wzq.3	+	0	906	c.804G>A	c.(802-804)gcG>gcA	p.A268A		NM_000953	NP_000944	Q13258	PD2R_HUMAN	Homo sapiens prostaglandin D2 receptor (DP) (PTGDR), mRNA.	268						integral to membrane|plasma membrane	prostaglandin D receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Breast(41;0.0639)|all_epithelial(31;0.0887)				Nedocromil(DB00716)	TGCTGCTGGCGCTGATGACCG	0.687													A	52735336	G	A	52735336	2	1	276	1	0	0	0	0	0	0	0	1	12826	1074	38	1		1	PTGDR	14	52735336	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	20175002	52735336	54614204	73	19447											
CDAN1	146059	broad.mit.edu	37	chr15	43028860	43028860	+	Frame_Shift_Del	DEL	G	G	-																															ccggggtcttggcgggggtcGggggcccctgcgggaggacg																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43028860delG	uc001zql.3	-	1	326	c.209delC	c.(208-210)ccgfs	p.P70fs	CDAN1_uc001zqk.3_5'Flank|CDAN1_uc010bcx.1_5'Flank|BC037861_uc001zqm.3_5'Flank	NM_138477	NP_612486	Q8IWY9	CDAN1_HUMAN	Homo sapiens congenital dyserythropoietic anemia, type I (CDAN1), mRNA.	70						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GGCGGGGGTCGGGGGCCCCTG	0.736													-	43028860	G	-	43028860	7	5	276	1	0	1	0	1	0	0	0	0	3084	1116	39	0	3582	0	CDAN1	15	43028860	Frame_Shift_Del	DEL	G	TCGA-76-6660-01A-11D-1845-08		43028860	59502532	74	19448											
TGM7	116179	broad.mit.edu	37	chr15	43571424	43571424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcggatgagcttttcgtccGttagcttgtttctgtaattg	5	17	11	8	4	1	1	0	1	1	0	3	2	2	2	1	1	2	5	1	1	2	7			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:43571424G>A	uc001zrf.1	-	10	1735	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_052955	NP_443187	Q96PF1	TGM7_HUMAN	Homo sapiens transglutaminase 7 (TGM7), mRNA.	577					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.T577M(2)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CTTTTCGTCCGTTAGCTTGTT	0.527													A	43571424	G	A	43571424	3	1	276	1	0	0	0	0	1	0	0	0	15935	1145	40	1	414	1	TGM7	15	43571424	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	542564	43571424	58959968	75	19449											
ATP8B4	79895	broad.mit.edu	37	chr15	50226281	50226281	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggaattcatgaactttGggatcacccattttaatgga	13	13	8	7	0	2	1	2	1	0	0	2	4	2	4	1	3	1	0	1	3	4	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:50226281G>T	uc001zxu.3	-	14	1528	c.1386C>A	c.(1384-1386)ccC>ccA	p.P462P	ATP8B4_uc010ber.3_Silent_p.P335P|ATP8B4_uc010ufd.2_Silent_p.P335P|ATP8B4_uc010ufe.2_Non-coding_Transcript	NM_024837	NP_079113	Q8TF62	AT8B4_HUMAN	Homo sapiens ATPase, class I, type 8B, member 4 (ATP8B4), mRNA.	462					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CATGAACTTTGGGATCACCCA	0.413													T	50226281	G	T	50226281	2	4	276	1	0	0	0	0	0	0	0	1	1202	1335	47	4		4	ATP8B4	15	50226281	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08	6654857	50226281	52305111	76	19450											
NEDD4	4734	broad.mit.edu	37	chr15	56207523	56207523	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtgcaatctctgttgcTgtctcttgataaattatcca	9	18	6	8	0	2	1	0	1	2	0	5	1	3	1	1	0	2	3	1	0	4	5			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:56207523T>G	uc002adj.3	-	0	1807	c.1507A>C	c.(1507-1509)Agc>Cgc	p.S503R	NEDD4_uc002adl.3_Intron|NEDD4_uc002adi.3_Missense_Mutation_p.S503R|NEDD4_uc010ugj.2_Missense_Mutation_p.S503R|NEDD4_uc010bfm.3_Missense_Mutation_p.S503R|NEDD4_uc002adk.3_Non-coding_Transcript	NM_198400	NP_006145	P46934	NEDD4_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4 (NEDD4), transcript variant 2, mRNA.	503					development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TCTCTGTTGCTGTCTCTTGAT	0.338													G	56207523	T	G	56207523	3	3	276	1	0	0	0	0	1	0	0	0	10386	1580	55	5	2552	5	NEDD4	15	56207523	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	5981242	56207523	46323869	77	19451											
KIAA1024	23251	broad.mit.edu	37	chr15	79748562	79748562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacagcaagcaaaataccGtttcttatcaggacctgtgc	12	10	9	10	1	2	0	1	0	1	0	2	2	2	2	2	2	4	3	2	2	5	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:79748562G>A	uc002bew.1	+	1	148	c.73G>A	c.(73-75)Gtt>Att	p.V25I	KIAA1024_uc010unk.1_Missense_Mutation_p.V25I	NM_015206	NP_056021	Q9UPX6	K1024_HUMAN	Homo sapiens KIAA1024 (KIAA1024), mRNA.	25						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						GCAAAATACCGTTTCTTATCA	0.478													A	79748562	G	A	79748562	3	1	276	1	0	0	0	0	1	0	0	0	8263	1145	40	1	75	1	KIAA1024	15	79748562	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	23541039	79748562	22782830	78	19452											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84659966	84659966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatccgatgtcctgtaaaaGgtaagtgtggtcatttcagt	11	13	10	7	1	2	0	2	0	0	0	4	1	4	0	2	2	0	2	2	2	4	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr15:84659966G>T	uc002bjz.4	+	23	4197	c.3973_splice	c.e23+1	p.G1325_splice	ADAMTSL3_uc010bmt.1_Splice_Site_p.G1325_splice	NM_207517	NP_997400	P82987	ATL3_HUMAN	Homo sapiens ADAMTS-like 3 (ADAMTSL3), mRNA.	1325	Ig-like C2-type 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCCTGTAAAAGGTAAGTGTGG	0.502													T	84659966	G	T	84659966	3	4	276	1	0	0	0	0	1	0	0	0	276	1014	35	4	4059	4	ADAMTSL3	15	84659966	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	4911404	84659966	17871426	79	19453											
CHD9	80205	broad.mit.edu	37	chr16	53338029	53338037	+	In_Frame_Del	DEL	TAAAGGTAT	TAAAGGTAT	-																															ctacctaggctcctagatgcTaaaggtattattctagagga																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr16:53338029_53338037delTAAAGGTAT	uc002ehb.3	+	29	6275_6283	c.6111_6119delTAAAGGTAT	c.(6109-6120)gctaaaggtatt>gct	p.KGI2038del	CHD9_uc002egy.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehc.3_In_Frame_Del_p.KGI2038del|CHD9_uc002ehf.3_In_Frame_Del_p.KGI1152del|CHD9_uc002ehg.2_In_Frame_Del_p.KGI1152del|CHD9_uc010cbw.3_Intron	NM_025134	NP_079410	Q3L8U1	CHD9_HUMAN	Homo sapiens chromodomain helicase DNA binding protein 9 (CHD9), mRNA.	2038					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCCTAGATGCTAAAGGTATTATTCTAGAG	0.407													-	53338037	TAAAGGTAT	-	53338029	7	5	276	1	0	1	0	1	0	0	0	0	3362	1509	53	0	6229	0	CHD9	16	53338029	In_Frame_Del	DEL	TAAAGGTAT	TCGA-76-6660-01A-11D-1845-08		53338029	37016724	80	19454											
MYH13	8735	broad.mit.edu	37	chr17	10209843	10209843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcagcctcatctagaCggtgctgcaggtccttcacc	6	12	10	13	1	4	1	3	0	1	1	5	1	5	1	3	2	3	4	3	2	1	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10209843C>T	uc002gmk.1	-	36	5489	c.5399G>A	c.(5398-5400)cGt>cAt	p.R1800H		NM_003802	NP_003793	Q9UKX3	MYH13_HUMAN	Homo sapiens myosin, heavy chain 13, skeletal muscle (MYH13), mRNA.	1800					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.H1799N(1)		breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTCATCTAGACGGTGCTGCAG	0.547													T	10209843	C	T	10209843	3	4	276	1	0	0	0	0	1	0	0	0	10108	536	19	1	437	1	MYH13	17	10209843	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		10209843	70985367	81	19455											
MYH8	4626	broad.mit.edu	37	chr17	10322097	10322097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaggggttgacggtgaCacagaagaggcctgagtagg	10	8	17	6	1	0	5	0	3	0	2	0	5	0	5	1	5	0	3	1	5	3	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:10322097C>A	uc002gmm.2	-	4	471	c.376G>T	c.(376-378)Gtc>Ttc	p.V126F	AK097500_uc002gml.1_Intron	NM_002472	NP_002463	P13535	MYH8_HUMAN	Homo sapiens myosin, heavy chain 8, skeletal muscle, perinatal (MYH8), mRNA.	126	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTGACGGTGACACAGAAGAGG	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10322097	C	A	10322097	3	1	276	1	0	0	0	0	1	0	0	0	10117	478	17	4	5581	4	MYH8	17	10322097	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	112254	10322097	70873113	82	19456											
XYLT2	64132	broad.mit.edu	37	chr17	48435599	48435599	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgggaccccaaagagcgtcTtttccggaactttggggggt	7	11	14	9	2	1	1	0	0	1	1	2	3	2	3	3	5	2	0	3	5	2	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:48435599T>C	uc002iqo.3	+	9	2082	c.1973T>C	c.(1972-1974)cTt>cCt	p.L658P	XYLT2_uc010dbo.3_Non-coding_Transcript	NM_022167	NP_071450	Q9H1B5	XYLT2_HUMAN	Homo sapiens xylosyltransferase II (XYLT2), mRNA.	658					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AAAGAGCGTCTTTTCCGGAAC	0.637													C	48435599	T	C	48435599	3	2	276	1	0	0	0	0	1	0	0	0	17566	1609	56	3	2011	3	XYLT2	17	48435599	Missense_Mutation	SNP	T	TCGA-76-6660-01A-11D-1845-08	38113502	48435599	32759611	83	19457											
RNF43	54894	broad.mit.edu	37	chr17	56492699	56492699	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttgcctgcattaatttTccttctgctggagttatttc	7	19	6	9	0	1	0	0	0	1	0	3	1	2	1	2	1	4	3	2	1	3	8			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:56492699T>C	uc002iwf.3	-	0	2196	c.240A>G	c.(238-240)ggA>ggG	p.G80G	RNF43_uc010wnv.2_Silent_p.G80G|RNF43_uc002iwh.4_Silent_p.G80G|RNF43_uc002iwg.4_Silent_p.G80G|RNF43_uc010dcw.3_Intron	NM_017763	NP_060233	Q68DV7	RNF43_HUMAN	Homo sapiens ring finger protein 43 (RNF43), mRNA.	80						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCATTAATTTTCCTTCTGCTG	0.378													C	56492699	T	C	56492699	2	2	276	1	0	0	0	0	0	0	0	1	13586	1770	62	3		3	RNF43	17	56492699	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	8057100	56492699	24702511	84	19458											
DDX5	1655	broad.mit.edu	37	chr17	62502217	62502217	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtcccggccgcggtctcgGtcactcgaataacccgacat	7	7	11	16	7	2	0	1	0	1	0	5	2	3	0	3	4	1	0	3	4	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr17:62502217G>C	uc010deh.2	-						CEP95_uc002jem.3_5'Flank|CEP95_uc002jen.3_5'Flank|CEP95_uc010wqb.2_5'Flank|DDX5_uc002jek.2_Missense_Mutation_p.D7E|DDX5_uc002jej.2_5'UTR|DDX5_uc010wqa.1_Missense_Mutation_p.D7E|DDX5_uc002jel.1_5'Flank	NM_004396	NP_004387	P17844	DDX5_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 5 (DDX5), mRNA.						cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CGCGGTCTCGGTCACTCGAAT	0.657			T	ETV4	prostate								C	62502217	G	C	62502217	3	2	276	1	0	0	0	0	1	0	0	0	4401	1252	44	4	1875	4	DDX5	17	62502217	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	6009518	62502217	18692993	85	19459											
LAMA1	284217	broad.mit.edu	37	chr18	6956660	6956660	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccggggctctggcaagAgcttgctgtcctctgcatcg	6	9	13	13	2	2	1	0	0	2	1	4	1	3	1	2	3	4	5	2	3	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:6956660A>T	uc002knm.3	-	55	8163	c.8069T>A	c.(8068-8070)cTc>cAc	p.L2690H	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Missense_Mutation_p.L143H|LAMA1_uc010wzj.2_Missense_Mutation_p.L2166H	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2690					axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTGGCAAGAGCTTGCTGTC	0.552													T	6956660	A	T	6956660	3	4	276	1	0	0	0	0	1	0	0	0	8664	304	11	5	1190	5	LAMA1	18	6956660	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		6956660	71120588	86	19460											
RIT2	6014	broad.mit.edu	37	chr18	40554049	40554049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacctacctggccagcaGtgtccaagatgtccaagtaa	12	8	8	13	0	1	1	1	0	0	1	3	1	3	1	5	1	2	2	5	1	4	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:40554049G>T	uc002lav.3	-	2	397	c.224C>A	c.(223-225)aCt>aAt	p.T75N	RIT2_uc010dnf.3_Missense_Mutation_p.T75N	NM_002930	NP_002921	Q99578	RIT2_HUMAN	Homo sapiens Ras-like without CAAX 2 (RIT2), mRNA.	75					nerve growth factor receptor signaling pathway|small GTPase mediated signal transduction|synaptic transmission	intracellular|plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGGCCAGCAGTGTCCAAGAT	0.368													T	40554049	G	T	40554049	3	4	276	1	0	0	0	0	1	0	0	0	13478	1029	36	4	441	4	RIT2	18	40554049	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	33597389	40554049	37523199	87	19461											
BCL2	596	broad.mit.edu	37	chr18	60795928	60795929	+	Frame_Shift_Del	DEL	AG	AG	-																															ccaaactgagcagagtcttcAgagacagccaggagaaatca																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr18:60795928_60795929delAG	uc002lit.1	-	2	1142_1143	c.649_650delCT	c.(649-651)ctgfs	p.L217fs	BCL2_uc002liu.1_Frame_Shift_Del_p.L217fs	NM_000633	NP_000624	P10415	BCL2_HUMAN	Homo sapiens B-cell CLL/lymphoma 2 (BCL2), nuclear gene encoding mitochondrial protein, transcript variant alpha, mRNA.	217					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	CAGAGTCTTCAGAGACAGCCAG	0.545			T	IGH@	"NHL, CLL"								-	60795929	AG	-	60795928	7	5	276	1	0	1	0	1	0	0	0	0	1370	188	7	0	73	0	BCL2	18	60795928	Frame_Shift_Del	DEL	AG	TCGA-76-6660-01A-11D-1845-08	20241879	60795928	17281320	88	19462											
DNM2	1785	broad.mit.edu	37	chr19	10886491	10886491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcctgcagttcatcagccgGgagagcagcctcattctggc	8	9	11	13	1	4	1	3	0	1	1	5	2	5	1	3	2	4	3	3	2	0	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:10886491G>A	uc002mpt.2	+	3	688	c.498G>A	c.(496-498)cgG>cgA	p.R166R	DNM2_uc010dxk.2_Non-coding_Transcript|DNM2_uc002mps.2_Silent_p.R166R|DNM2_uc010dxl.2_Silent_p.R166R|DNM2_uc002mpu.2_Silent_p.R166R|DNM2_uc002mpv.2_Silent_p.R166R	NM_001005360	NP_001005360	P50570	DYN2_HUMAN	Homo sapiens dynamin 2 (DNM2), transcript variant 1, mRNA.	166					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TCATCAGCCGGGAGAGCAGCC	0.607			"F, N, Splice, Mis, O"		ETP ALL								A	10886491	G	A	10886491	2	1	276	1	0	0	0	0	0	0	0	1	4711	1219	43	2		2	DNM2	19	10886491	Silent	SNP	G	TCGA-76-6660-01A-11D-1845-08		10886491	48242492	89	19463											
RGL3	57139	broad.mit.edu	37	chr19	11526753	11526753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcggacactgcccaggtccGaatgggcaggggggtctcgg	6	7	17	11	3	1	0	0	0	1	0	4	2	2	1	2	7	1	1	2	7	1	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:11526753G>A	uc002mro.2	-	4	561	c.497C>T	c.(496-498)tCg>tTg	p.S166L	RGL3_uc002mrn.2_5'UTR|RGL3_uc002mrm.2_5'UTR|RGL3_uc002mrp.2_Missense_Mutation_p.S166L	NM_001161616	NP_001155088	Q3MIN7	RGL3_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator-like 3 (RGL3), transcript variant 1, mRNA.	166	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCCCAGGTCCGAATGGGCAGG	0.617													A	11526753	G	A	11526753	3	1	276	1	0	0	0	0	1	0	0	0	13366	1059	37	1	1713	1	RGL3	19	11526753	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	640262	11526753	47602230	90	19464											
ZNF433	163059	broad.mit.edu	37	chr19	12126556	12126556	+	Frame_Shift_Del	DEL	A	A	-																															ttgaagtgaactgggagaatAaaaggctttcccacatatct																										TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:12126556delA	uc002msy.1	-	3	1297	c.1126delT	c.(1126-1128)tatfs	p.Y376fs	AX747405_uc002msx.1_Intron|ZNF433_uc002msz.1_Frame_Shift_Del_p.Y341fs	NM_001080411	NP_001073880	Q8N7K0	ZN433_HUMAN	Homo sapiens zinc finger protein 433 (ZNF433), mRNA.	376					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						CTGGGAGAATAAAAGGCTTTC	0.373													-	12126556	A	-	12126556	7	5	276	1	0	1	0	1	0	0	0	0	18008	362	13	0	899	0	ZNF433	19	12126556	Frame_Shift_Del	DEL	A	TCGA-76-6660-01A-11D-1845-08	599803	12126556	47002427	91	19465											
PEG3	5178	broad.mit.edu	37	chr19	57325278	57325278	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaagtgaaggtttctGtgcattcatggcagtcatag	9	13	13	6	0	3	1	2	1	1	0	3	2	3	2	0	3	2	4	0	3	3	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr19:57325278G>C	uc002qnu.2	-	6	4883	c.4532C>G	c.(4531-4533)aCa>aGa	p.T1511R	PEG3_uc010ygr.1_Intron|PEG3_uc010ygq.1_Intron|PEG3_uc002qnr.2_Intron|PEG3_uc010etp.2_Intron|PEG3_uc010ygs.1_Intron|PEG3_uc002qnq.2_Intron|PEG3_uc002qnt.2_Missense_Mutation_p.T1482R|PEG3_uc002qnv.2_Missense_Mutation_p.T1511R|PEG3_uc002qnw.2_Missense_Mutation_p.T1387R|PEG3_uc002qnx.2_Missense_Mutation_p.T1385R|PEG3_uc010etr.2_Missense_Mutation_p.T1511R	NM_001146186	NP_001139657	Q9GZU2	PEG3_HUMAN	Homo sapiens paternally expressed 3 (PEG3), transcript variant 4, mRNA.	1511	Glu-rich.				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GAAGGTTTCTGTGCATTCATG	0.483													C	57325278	G	C	57325278	3	2	276	1	0	0	0	0	1	0	0	0	11796	1377	48	4	238	4	PEG3	19	57325278	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08	45198722	57325278	1803705	92	19466											
PTPRA	5786	broad.mit.edu	37	chr20	3002794	3002794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgccttttaccccgatcgGcatgctcaagttcctcaaga	8	11	9	13	2	2	1	2	0	0	1	4	2	3	1	4	2	3	3	4	2	3	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:3002794G>A	uc010zqd.2	+	13	1606	c.1289G>A	c.(1288-1290)gGc>gAc	p.G430D	PTPRA_uc002whj.3_Missense_Mutation_p.G419D|PTPRA_uc002whk.3_Missense_Mutation_p.G410D|PTPRA_uc002whl.3_Missense_Mutation_p.G410D|PTPRA_uc002whm.3_Missense_Mutation_p.G186D|PTPRA_uc002whn.3_Missense_Mutation_p.G410D|PTPRA_uc002who.3_Missense_Mutation_p.G82D	NM_002836	NP_002827	P18433	PTPRA_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, A (PTPRA), transcript variant 1, mRNA.	419	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						ACCCCGATCGGCATGCTCAAG	0.572													A	3002794	G	A	3002794	3	1	276	1	0	0	0	0	1	0	0	0	12883	1203	42	2	1302	2	PTPRA	20	3002794	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		3002794	60022726	93	19467											
RIN2	54453	broad.mit.edu	37	chr20	19981289	19981289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgcatttcaggaggtcaaCagtggttgcacaggaaagac	12	9	13	7	0	2	1	2	0	0	1	2	3	2	3	0	4	3	4	0	4	2	3			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:19981289C>T	uc002wro.2	+	11	2693	c.2544C>T	c.(2542-2544)aaC>aaT	p.N848N	RIN2_uc010gcu.2_Silent_p.N366N|RIN2_uc010gcv.2_Silent_p.N593N	NM_001242581	NP_001229510	Q8WYP3	RIN2_HUMAN	Homo sapiens Ras and Rab interactor 2 (RIN2), transcript variant 1, mRNA.	799	Ras-associating.				endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						AGGAGGTCAACAGTGGTTGCA	0.507													T	19981289	C	T	19981289	2	4	276	1	0	0	0	0	0	0	0	1	13463	477	17	2		2	RIN2	20	19981289	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	16978495	19981289	43044231	94	19468											
AURKA	6790	broad.mit.edu	37	chr20	54963223	54963223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttaccttaacaggtcCtgaaatgcagttttctttag	11	16	6	8	0	2	1	1	1	1	0	3	1	3	1	2	1	3	2	2	1	5	7	rs6069717		TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr20:54963223C>T	uc002xxe.1	-	2	288	c.31G>A	c.(31-33)Gga>Aga	p.G11R	AURKA_uc002xxf.1_Missense_Mutation_p.G11R|AURKA_uc002xxg.1_Missense_Mutation_p.G11R|AURKA_uc002xxh.1_Missense_Mutation_p.G11R|AURKA_uc002xxi.1_Missense_Mutation_p.G11R|AURKA_uc002xxj.1_Missense_Mutation_p.G11R|AURKA_uc010zzd.1_Non-coding_Transcript|AURKA_uc002xxd.1_Missense_Mutation_p.G11R	NM_198434	NP_940839	O14965	AURKA_HUMAN	Homo sapiens aurora kinase A (AURKA), transcript variant 3, mRNA.	11			G -> R (in dbSNP:rs6069717).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity	p.G11*(2)		breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TTAACAGGTCCTGAAATGCAG	0.383													T	54963223	C	T	54963223	3	4	276	1	0	0	0	0	1	0	0	0	1226	690	24	2	1212	2	AURKA	20	54963223	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08	34981934	54963223	8062297	95	19469											
MORC3	23515	broad.mit.edu	37	chr21	37732374	37732374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaccctgacccacagttcAggtaccatagagttggtagt	12	10	9	10	0	1	2	1	1	0	1	1	2	1	2	3	2	2	4	3	2	4	6			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:37732374A>G	uc002yvi.3	+	11	1407	c.1331_splice	c.e11+1	p.R444_splice		NM_015358	NP_056173	Q14149	MORC3_HUMAN	Homo sapiens MORC family CW-type zinc finger 3 (MORC3), mRNA.	444					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCCACAGTTCAGGTACCATAG	0.433													G	37732374	A	G	37732374	3	3	276	1	0	0	0	0	1	0	0	0	9779	202	7	3	1372	3	MORC3	21	37732374	Missense_Mutation	SNP	A	TCGA-76-6660-01A-11D-1845-08		37732374	10397521	96	19470											
SH3BGR	6450	broad.mit.edu	37	chr21	40883645	40883645	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgcggaaggggaagcCgaggaggaggaagaaactgc	13	2	21	5	2	0	1	0	0	0	1	0	8	0	6	1	7	4	0	1	7	4	0			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr21:40883645C>T	uc002yya.3	+	5	717	c.663C>T	c.(661-663)gcC>gcT	p.A221A	SH3BGR_uc002yxz.3_Silent_p.A110A	NM_007341	NP_001001713	P55822	SH3BG_HUMAN	Homo sapiens SH3 domain binding glutamic acid-rich protein (SH3BGR), transcript variant 1, mRNA.	221	Glu-rich (acidic).				protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		AAGGGGAAGCCGAGGAGGAGG	0.448													T	40883645	C	T	40883645	2	4	276	1	0	0	0	0	0	0	0	1	14333	639	23	1		1	SH3BGR	21	40883645	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	3151271	40883645	7246250	97	19471											
TPST2	8459	broad.mit.edu	37	chr22	26937392	26937392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccacccacgaagatgagcgGcatggccttgccatagcggt	9	6	13	13	3	0	2	0	1	0	1	0	3	0	2	4	3	3	1	4	3	2	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chr22:26937392G>A	uc003acw.3	-	2	546	c.205C>T	c.(205-207)Ccg>Tcg	p.P69S	TPST2_uc003acx.3_Missense_Mutation_p.P69S|TPST2_uc011akf.1_Missense_Mutation_p.P69S	NM_001008566	NP_003586	O60704	TPST2_HUMAN	Homo sapiens tyrosylprotein sulfotransferase 2 (TPST2), transcript variant 1, mRNA.	69					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						AAGATGAGCGGCATGGCCTTG	0.701													A	26937392	G	A	26937392	3	1	276	1	0	0	0	0	1	0	0	0	16529	1203	42	2	944	2	TPST2	22	26937392	Missense_Mutation	SNP	G	TCGA-76-6660-01A-11D-1845-08		26937392	24367174	98	19472											
WWC3	55841	broad.mit.edu	37	chrX	10058926	10058926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggcgagaaggagaggCgggacctgatgcatgtaagc	12	4	17	8	2	0	3	0	1	0	2	0	6	0	4	1	4	2	3	1	4	2	1			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:10058926C>T	uc004csx.4	+	5	691	c.493C>T	c.(493-495)Cgg>Tgg	p.R165W	WWC3_uc010nds.3_5'UTR|WWC3_uc010ndt.3_Non-coding_Transcript	NM_015691	NP_056506	Q9ULE0	WWC3_HUMAN	Homo sapiens WWC family member 3 (WWC3), mRNA.	165										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GAAGGAGAGGCGGGACCTGAT	0.423													T	10058926	C	T	10058926	3	4	276	1	0	0	0	0	1	0	0	0	17515	759	27	1	511	1	WWC3	23	10058926	Missense_Mutation	SNP	C	TCGA-76-6660-01A-11D-1845-08		10058926	145211634	99	19473											
IGSF1	3547	broad.mit.edu	37	chrX	130409145	130409145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctcctgagccccctcCttcaacaggacaaatgttga	12	8	8	13	0	1	2	1	2	0	0	3	3	3	3	4	2	2	2	4	2	3	2			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:130409145C>T	uc004ewe.4	-	16	3598	c.3315G>A	c.(3313-3315)aaG>aaA	p.K1105K	IGSF1_uc004ewd.3_Silent_p.K1100K|IGSF1_uc022cdv.1_Silent_p.K1091K|IGSF1_uc004ewf.2_Silent_p.K1080K	NM_001170961	NP_001164432	Q8N6C5	IGSF1_HUMAN	Homo sapiens immunoglobulin superfamily, member 1 (IGSF1), transcript variant 3, mRNA.	1100	Ig-like C2-type 11.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GAGCCCCCTCCTTCAACAGGA	0.547													T	130409145	C	T	130409145	2	4	276	1	0	0	0	0	0	0	0	1	7654	680	24	2		2	IGSF1	23	130409145	Silent	SNP	C	TCGA-76-6660-01A-11D-1845-08	120350219	130409145	24861415	100	19474											
MAGEC1	9947	broad.mit.edu	37	chrX	140995944	140995944	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgagttggcgcggttTcttctcctcaaatatcaagt	8	13	11	9	3	4	0	2	0	2	0	5	2	4	1	1	3	0	2	1	3	3	4			TCGA-76-6660-01A-11D-1845-08	TCGA-76-6660-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4960945-c464-49c2-8ad6-d73a6fa47b20	59562be7-e77a-4b64-b286-5980b286641a	g.chrX:140995944T>C	uc004fbt.3	+	3	3078	c.2754T>C	c.(2752-2754)ttT>ttC	p.F918F	MAGEC1_uc010nsl.2_5'UTR|MAGEC1_uc022cfi.1_Silent_p.F577F	NM_005462	NP_005453	O60732	MAGC1_HUMAN	Homo sapiens melanoma antigen family C, 1 (MAGEC1), mRNA.	918	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TGGCGCGGTTTCTTCTCCTCA	0.483										HNSCC(15;0.026)			C	140995944	T	C	140995944	2	2	276	1	0	0	0	0	0	0	0	1	9255	1780	62	3		3	MAGEC1	23	140995944	Silent	SNP	T	TCGA-76-6660-01A-11D-1845-08	10586799	140995944	14274616	101	19475											
OXCT2	64064	broad.mit.edu	37	chr1	40235523	40235523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtcaaacacggccttctCggtgatgatgcggtccacgc	8	8	11	14	5	2	2	1	2	1	0	4	2	3	2	2	3	2	0	2	3	1	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:40235523C>T	uc001ceb.1	-	0	1498	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	BMP8B_uc001cdz.1_Intron|BMP8B_uc001cea.1_Intron	NM_022120	NP_071403	Q9BYC2	SCOT2_HUMAN	Homo sapiens 3-oxoacid CoA transferase 2 (OXCT2), mRNA.	469					ketone body catabolic process	microtubule-based flagellum|mitochondrion	3-oxoacid CoA-transferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|pancreas(1)|upper_aerodigestive_tract(1)	6	all_cancers(7;5.56e-14)|all_lung(5;3.88e-17)|all_epithelial(6;3.78e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;1.92e-17)|all cancers(16;4.03e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)		Succinic acid(DB00139)	ACGGCCTTCTCGGTGATGATG	0.592													T	40235523	C	T	40235523	3	4	277	1	0	0	0	0	1	0	0	0	11406	893	31	1	152	1	OXCT2	1	40235523	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		40235523	209015098	1	19476											
DMRTB1	63948	broad.mit.edu	37	chr1	53930361	53930361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctactacctgccgccgccgCcgccgccactgccgcccctt	3	6	9	23	6	0	0	0	0	0	0	0	0	0	0	10	0	4	1	10	0	2	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:53930361C>T	uc001cvq.1	+	2	857	c.802C>T	c.(802-804)Ccg>Tcg	p.P268S		NM_033067	NP_149056	Q96MA1	DMRTB_HUMAN	Homo sapiens DMRT-like family B with proline-rich C-terminal, 1 (DMRTB1), mRNA.	268	Pro-rich.				sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						gccgccgccgccgccgccact	0.682													T	53930361	C	T	53930361	3	4	277	1	0	0	0	0	1	0	0	0	4629	739	26	2	812	2	DMRTB1	1	53930361	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	13694838	53930361	195320260	2	19477											
SELE	6401	broad.mit.edu	37	chr1	169698648	169698648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttacacgttggcttctcGttgtcccaattcccagatga	7	14	7	13	2	1	2	0	1	1	1	4	2	3	2	3	1	1	3	3	1	2	6			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:169698648G>A	uc001ggm.4	-	5	1039	c.882C>T	c.(880-882)aaC>aaT	p.N294N	C1orf112_uc001ggj.3_Intron	NM_000450	NP_000441	P16581	LYAM2_HUMAN	Homo sapiens selectin E (SELE), mRNA.	294	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTGGCTTCTCGTTGTCCCAAT	0.458													A	169698648	G	A	169698648	2	1	277	1	0	0	0	0	0	0	0	1	14106	1136	40	1		1	SELE	1	169698648	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	115768287	169698648	79551973	3	19478											
USH2A	7399	broad.mit.edu	37	chr1	215931985	215931985	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaggcccaattactgtgaTattatatggaggatagattt	14	14	9	4	0	0	2	0	1	0	1	0	4	0	4	1	3	1	0	1	3	7	7			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:215931985T>C	uc001hku.1	-	57	11728	c.11341A>G	c.(11341-11343)Atc>Gtc	p.I3781V		NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	3781	Fibronectin type-III 23.				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)		ATTACTGTGATATTATATGGA	0.353										HNSCC(13;0.011)			C	215931985	T	C	215931985	3	2	277	1	0	0	0	0	1	0	0	0	17138	1406	49	3	4327	3	USH2A	1	215931985	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	46233337	215931985	33318636	4	19479											
OR2T4	127074	broad.mit.edu	37	chr1	248525822	248525822	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcttctataccatcctcActccagtggtgaacccttta	8	14	5	14	0	3	1	1	1	2	0	5	1	5	1	4	1	2	0	4	1	4	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr1:248525822A>T	uc001ieh.1	+	0	940	c.940A>T	c.(940-942)Act>Tct	p.T314S		NM_001004696	NP_001004696	Q8NH00	OR2T4_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily T, member 4 (OR2T4), mRNA.	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T314T(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TACCATCCTCACTCCAGTGGT	0.463													T	248525822	A	T	248525822	3	4	277	1	0	0	0	0	1	0	0	0	11103	159	6	5	942	5	OR2T4	1	248525822	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	32593837	248525822	724799	5	19480											
MERTK	10461	broad.mit.edu	37	chr2	112785992	112785992	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaccttttcagtattgAggctgcagctagaaaaactc	11	10	8	12	0	1	2	1	1	0	1	2	2	1	2	3	1	3	4	3	1	4	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:112785992A>G	uc002thk.1	+	18	2673	c.2551A>G	c.(2551-2553)Agg>Ggg	p.R851G	MERTK_uc002thl.1_Missense_Mutation_p.R675G	NM_006343	NP_006334	Q12866	MERTK_HUMAN	Homo sapiens c-mer proto-oncogene tyrosine kinase (MERTK), mRNA.	851	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTCAGTATTGAGGCTGCAGCT	0.453													G	112785992	A	G	112785992	3	3	277	1	0	0	0	0	1	0	0	0	9554	295	11	3	2625	3	MERTK	2	112785992	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		112785992	130413381	6	19481											
TTN	7273	broad.mit.edu	37	chr2	179594237	179594237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttcacactccagctccaCgtcactatattttactacct	11	13	2	15	1	2	0	2	0	0	0	4	0	4	0	3	0	4	1	3	0	5	6			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:179594237C>T	uc021vsy.1	-	60	15139	c.14914G>A	c.(14914-14916)Gtg>Atg	p.V4972M	TTN_uc021vsz.1_Intron|TTN_uc021vta.1_Intron|TTN_uc021vtb.1_Intron|TTN_uc002umz.1_Missense_Mutation_p.V1633M	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	5899	Ig-like 30.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGCTCCACGTCACTATAT	0.448													T	179594237	C	T	179594237	3	4	277	1	0	0	0	0	1	0	0	0	16837	536	19	1	86079	1	TTN	2	179594237	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	66808245	179594237	63605136	7	19482											
PIKFYVE	200576	broad.mit.edu	37	chr2	209153464	209153464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttatagtttgattcatcCagattcctcaaatactcctc	10	17	3	11	0	3	2	2	1	1	1	7	2	6	2	3	0	1	1	3	0	4	7			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:209153464C>T	uc002vcz.3	+	6	991	c.833C>T	c.(832-834)cCa>cTa	p.P278L	PIKFYVE_uc010fun.1_5'UTR|PIKFYVE_uc002vcy.1_Missense_Mutation_p.P278L|PIKFYVE_uc002vcw.3_Missense_Mutation_p.P278L|PIKFYVE_uc002vcv.3_Missense_Mutation_p.P181L|PIKFYVE_uc002vcx.3_Missense_Mutation_p.P192L	NM_015040	NP_055855	Q9Y2I7	FYV1_HUMAN	Homo sapiens phosphoinositide kinase, FYVE finger containing (PIKFYVE), transcript variant 2, mRNA.	278					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TTGATTCATCCAGATTCCTCA	0.343													T	209153464	C	T	209153464	3	4	277	1	0	0	0	0	1	0	0	0	12001	594	21	2	855	2	PIKFYVE	2	209153464	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	29559227	209153464	34045909	8	19483											
COL4A4	1286	broad.mit.edu	37	chr2	227942664	227942664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtggcctggaactcCtgggtggcctcgctctcctg	3	10	14	14	1	1	0	0	0	1	0	4	1	2	1	5	5	1	1	5	5	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942664C>T	uc021vxr.1	-	23	2034	c.1933G>A	c.(1933-1935)Gga>Aga	p.G645R	COL4A4_uc021vxs.1_Missense_Mutation_p.G645R	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	645	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		CCTGGAACTCCTGGGTGGCCT	0.532													T	227942664	C	T	227942664	3	4	277	1	0	0	0	0	1	0	0	0	3724	690	24	2	3235	2	COL4A4	2	227942664	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	18789200	227942664	15256709	9	19484			1	42		3	3	36	C		2.704413e-09
COL4A4	1286	broad.mit.edu	37	chr2	227942679	227942679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcctgggtggcctcgctCtcctggtggaccaggaaatc	7	9	12	13	1	1	0	0	0	1	0	5	2	2	2	4	5	1	1	4	5	2	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942679C>T	uc021vxr.1	-	23	2019	c.1918G>A	c.(1918-1920)Gag>Aag	p.E640K	COL4A4_uc021vxs.1_Missense_Mutation_p.E640K	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	640	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGCCTCGCTCTCCTGGTGGA	0.552													T	227942679	C	T	227942679	3	4	277	1	0	0	0	0	1	0	0	0	3724	922	32	2	3250	2	COL4A4	2	227942679	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	15	227942679	15256694	10	19485			1	42		3	3	36	C		2.704413e-09
COL4A4	1286	broad.mit.edu	37	chr2	227942699	227942699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctggtggaccaggaaatCccagtcctgggggccccaca	8	6	12	15	0	0	0	0	0	0	0	3	2	3	2	6	5	0	0	6	5	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr2:227942699C>T	uc021vxr.1	-	23	1999	c.1898G>A	c.(1897-1899)gGa>gAa	p.G633E	COL4A4_uc021vxs.1_Missense_Mutation_p.G633E	NM_000092	NP_000083	P53420	CO4A4_HUMAN	Homo sapiens collagen, type IV, alpha 4 (COL4A4), mRNA.	633	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		ACCAGGAAATCCCAGTCCTGG	0.602													T	227942699	C	T	227942699	3	4	277	1	0	0	0	0	1	0	0	0	3724	855	30	2	3270	2	COL4A4	2	227942699	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	20	227942699	15256674	11	19486			1	42		3	3	36	C		2.704413e-09
LAMP3	27074	broad.mit.edu	37	chr3	182871533	182871533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttatacagagtctgcttccGtttagaacctgataaattcc	11	15	6	9	1	1	3	0	1	1	2	3	3	3	3	3	0	3	2	3	0	6	8	rs140803277	by1000genomes	TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:182871533G>A	uc003flh.4	-	1	920	c.696C>T	c.(694-696)aaC>aaT	p.N232N		NM_014398	NP_055213	Q9UQV4	LAMP3_HUMAN	Homo sapiens lysosomal-associated membrane protein 3 (LAMP3), mRNA.	232					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GTCTGCTTCCGTTTAGAACCT	0.502													A	182871533	G	A	182871533	2	1	277	1	0	0	0	0	0	0	0	1	8678	1136	40	1		1	LAMP3	3	182871533	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08		182871533	15150897	12	19487											
EPHB3	2049	broad.mit.edu	37	chr3	184295702	184295702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggctctggggcccagcaGctccaggagcagcttcccct	6	6	12	17	0	1	0	0	0	1	0	3	1	3	1	5	4	4	5	5	4	0	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184295702G>A	uc003foz.3	+	7	2093	c.1656G>A	c.(1654-1656)caG>caA	p.Q552Q		NM_004443	NP_004434	P54753	EPHB3_HUMAN	Homo sapiens EPH receptor B3 (EPHB3), mRNA.	552						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GGGCCCAGCAGCTCCAGGAGC	0.637													A	184295702	G	A	184295702	2	1	277	1	0	0	0	0	0	0	0	1	5217	962	34	2		2	EPHB3	3	184295702	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	1424169	184295702	13726728	13	19488											
C3orf70	285382	broad.mit.edu	37	chr3	184870498	184870498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacagatagacagcccgtcGcacggctggaagtcgggtct	9	6	14	12	4	1	2	0	0	1	2	3	3	1	3	1	3	1	3	1	3	2	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr3:184870498G>A	uc003fpd.3	-	0	305	c.114C>T	c.(112-114)tgC>tgT	p.C38C		NM_001025266	NP_001020437	A6NLC5	CC070_HUMAN	Homo sapiens chromosome 3 open reading frame 70 (C3orf70), mRNA.	38										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						ACAGCCCGTCGCACGGCTGGA	0.642													A	184870498	G	A	184870498	2	1	277	1	0	0	0	0	0	0	0	1	2263	1079	38	1		1	C3orf70	3	184870498	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	574796	184870498	13151932	14	19489											
LIAS	11019	broad.mit.edu	37	chr4	39462478	39462478	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagataaaaaaaaggaactCctacagaatggaccagacct	19	5	7	10	0	0	3	0	0	0	3	1	5	1	5	4	2	2	0	4	2	7	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr4:39462478C>A	uc003guf.3	+	1	187	c.114C>A	c.(112-114)ctC>ctA	p.L38L	RPL9_uc003gub.3_5'Flank|RPL9_uc003guc.3_5'Flank|RPL9_uc011byk.2_5'Flank|RPL9_uc011byl.1_5'Flank|RPL9_uc003gud.1_5'Flank|LIAS_uc003gue.4_Silent_p.L38L|LIAS_uc011bym.2_Silent_p.L38L|LIAS_uc003gug.3_Silent_p.L38L	NM_006859	NP_006850	O43766	LIAS_HUMAN	Homo sapiens lipoic acid synthetase (LIAS), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	38					inflammatory response|response to lipopolysaccharide|response to oxidative stress	mitochondrion	4 iron, 4 sulfur cluster binding|lipoate synthase activity|metal ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12					Lipoic Acid(DB00166)	AAAAGGAACTCCTACAGAATG	0.398													A	39462478	C	A	39462478	2	1	277	1	0	0	0	0	0	0	0	1	8838	842	30	4		4	LIAS	4	39462478	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		39462478	151691798	15	19490											
FBN2	2201	broad.mit.edu	37	chr5	127674667	127674667	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccactttcatagccttCgaagcactcgcactcaaagc	12	8	7	14	2	2	0	2	0	0	0	4	2	2	0	2	0	4	2	2	0	4	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:127674667C>A	uc003kuu.3	-	25	3869	c.3430G>T	c.(3430-3432)Gaa>Taa	p.E1144*	FBN2_uc003kuv.2_Nonsense_Mutation_p.E1111*	NM_001999	NP_001990	P35556	FBN2_HUMAN	Homo sapiens fibrillin 2 (FBN2), mRNA.	1144	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent	p.E1144K(2)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCATAGCCTTCGAAGCACTCG	0.507													A	127674667	C	A	127674667	4	1	277	1	0	0	0	0	0	1	0	0	5752	893	31	4	5468	4	FBN2	5	127674667	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		127674667	53240593	16	19491											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862027	128862027	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaagtggaagagggaaaCgatattcatacaaattacct	18	8	9	6	1	1	2	1	0	0	2	1	5	1	4	1	2	3	0	1	2	7	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:128862027C>T	uc003kvb.1	+	3	946	c.946C>T	c.(946-948)Cga>Tga	p.R316*	ADAMTS19_uc003kvc.1_Non-coding_Transcript	NM_133638	NP_598377	Q8TE59	ATS19_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 19 (ADAMTS19), mRNA.	316					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AAGAGGGAAACGATATTCATA	0.398													T	128862027	C	T	128862027	4	4	277	1	0	0	0	0	0	1	0	0	264	528	19	1	960	1	ADAMTS19	5	128862027	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	1187360	128862027	52053233	17	19492											
PCDHAC2	56143	broad.mit.edu	37	chr5	140203028	140203028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgttcgtgctggaCgagaacgacaacgcgccggc	8	6	15	12	6	0	1	0	0	0	1	1	4	0	2	1	3	4	3	1	3	2	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140203028C>T	uc003lhl.2	+	0	1668	c.1668C>T	c.(1666-1668)gaC>gaT	p.D556D	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhk.1_Silent_p.D556D|PCDHAC2_uc003lhj.1_Silent_p.D556D	NM_018908	NP_061731	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 5 (PCDHA5), transcript variant 1, mRNA.	571	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGCTGGACGAGAACGACA	0.706													T	140203028	C	T	140203028	2	4	277	1	0	0	0	0	0	0	0	1	11609	535	19	1		1	PCDHAC2	5	140203028	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	11341001	140203028	40712232	18	19493											
PCDHB5	26167	broad.mit.edu	37	chr5	140515027	140515027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctgaacaatggagactgCgctagcaaaaacgccacaga	15	5	11	10	2	1	3	0	1	1	2	1	4	1	3	1	2	4	2	1	2	5	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:140515027C>T	uc003liq.3	+	0	228	c.11C>T	c.(10-12)gCg>gTg	p.A4V		NM_015669	NP_056484	Q9Y5E4	PCDB5_HUMAN	Homo sapiens protocadherin beta 5 (PCDHB5), mRNA.	4					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATGGAGACTGCGCTAGCAAAA	0.458													T	140515027	C	T	140515027	3	4	277	1	0	0	0	0	1	0	0	0	11621	768	27	1	13	1	PCDHB5	5	140515027	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	311999	140515027	40400233	19	19494											
DDX41	51428	broad.mit.edu	37	chr5	176941751	176941751	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcccccaatgcagaGggcgcagcgcaggagtggtg	9	4	17	11	2	0	1	0	0	0	1	0	3	0	3	2	4	3	3	2	4	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:176941751G>C	uc003mho.3	-	8	907	c.886C>G	c.(886-888)Ctc>Gtc	p.L296V	DDX41_uc003mhn.3_Missense_Mutation_p.L165V|DDX41_uc003mhp.3_Missense_Mutation_p.L165V|DDX41_uc003mhq.1_Missense_Mutation_p.L76V	NM_016222	NP_057306	Q9UJV9	DDX41_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 41 (DDX41), mRNA.	296	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAATGCAGAGGGCGCAGCGC	0.662													C	176941751	G	C	176941751	3	2	277	1	0	0	0	0	1	0	0	0	4395	1000	35	4	1018	4	DDX41	5	176941751	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	36426724	176941751	3973509	20	19495											
MAML1	9794	broad.mit.edu	37	chr5	179201198	179201198	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaacgtgggccagaacAcctccgtctcagctgcctat	10	7	9	15	2	1	2	1	0	1	2	3	2	2	2	5	1	4	1	5	1	3	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr5:179201198A>C	uc003mkm.3	+	4	2634	c.2371A>C	c.(2371-2373)Acc>Ccc	p.T791P	MAML1_uc003mkn.1_Intron	NM_014757	NP_055572	Q92585	MAML1_HUMAN	Homo sapiens mastermind-like 1 (Drosophila) (MAML1), mRNA.	791					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGCCAGAACACCTCCGTCTC	0.592													C	179201198	A	C	179201198	3	2	277	1	0	0	0	0	1	0	0	0	9280	159	6	5	2389	5	MAML1	5	179201198	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	2259447	179201198	1714062	21	19496											
GTF3C6	112495	broad.mit.edu	37	chr6	111288823	111288823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtagcttcagccccaGataaatctttggaattggaa	13	11	10	7	0	2	1	1	0	1	1	2	3	2	3	2	3	2	2	2	3	6	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:111288823G>T	uc003pum.3	+	5	682	c.472G>T	c.(472-474)Gat>Tat	p.D158Y		NM_138408	NP_612417	Q969F1	TF3C6_HUMAN	Homo sapiens general transcription factor IIIC, polypeptide 6, alpha 35kDa (GTF3C6), mRNA.	158						transcription factor TFIIIC complex	DNA binding|protein binding	p.P157Q(1)		NS(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;0.00328)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|Colorectal(196;0.0466)|all_epithelial(87;0.0575)		OV - Ovarian serous cystadenocarcinoma(136;0.105)|all cancers(137;0.179)|Epithelial(106;0.186)		TTCAGCCCCAGATAAATCTTT	0.383													T	111288823	G	T	111288823	3	4	277	1	0	0	0	0	1	0	0	0	6932	942	33	4	494	4	GTF3C6	6	111288823	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		111288823	59826244	22	19497											
NMBR	4829	broad.mit.edu	37	chr6	142409496	142409496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagaagtagcgcgaggcGtccaccgggacgcaggtgag	10	4	17	10	6	0	2	0	1	0	1	2	5	1	3	2	3	1	2	2	3	3	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr6:142409496G>A	uc003qiu.3	-	0	441	c.300C>T	c.(298-300)gaC>gaT	p.D100D		NM_002511	NP_002502	P28336	NMBR_HUMAN	Homo sapiens neuromedin B receptor (NMBR), mRNA.	100					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity	p.V99L(1)		breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		AGCGCGAGGCGTCCACCGGGA	0.592													A	142409496	G	A	142409496	2	1	277	1	0	0	0	0	0	0	0	1	10563	1136	40	1		1	NMBR	6	142409496	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	31120673	142409496	28705571	23	19498											
HECW1	23072	broad.mit.edu	37	chr7	43351508	43351508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaggggcggcccccaCgatggcgtcaccattccccg	6	5	12	18	4	2	0	2	0	0	0	3	2	3	0	6	4	0	0	6	4	0	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:43351508C>T	uc003tid.1	+	3	779	c.174C>T	c.(172-174)caC>caT	p.H58H	HECW1_uc011kbi.1_Silent_p.H58H|HECW1_uc003tie.1_Silent_p.H90H	NM_015052	NP_055867	Q76N89	HECW1_HUMAN	Homo sapiens HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1 (HECW1), mRNA.	58					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCGGCCCCCACGATGGCGTCA	0.632													T	43351508	C	T	43351508	2	4	277	1	0	0	0	0	0	0	0	1	7097	535	19	1		1	HECW1	7	43351508	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		43351508	115787155	24	19499											
EGFR	1956	broad.mit.edu	37	chr7	55223543	55223543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattatgtggtgacagatCacggctcgtgcgtccgagcc	8	10	13	10	4	1	2	1	1	0	1	3	3	2	2	2	2	2	2	2	2	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:55223543C>T	uc003tqk.3	+	7	1156	c.910C>T	c.(910-912)Cac>Tac	p.H304Y	EGFR_uc003tqh.3_Missense_Mutation_p.H304Y|EGFR_uc003tqi.3_Missense_Mutation_p.H304Y|EGFR_uc003tqj.3_Missense_Mutation_p.H304Y|EGFR_uc022adm.1_Missense_Mutation_p.H304Y|EGFR_uc010kzg.2_Missense_Mutation_p.H259Y|EGFR_uc022adn.1_Missense_Mutation_p.H259Y|EGFR_uc011kco.2_Missense_Mutation_p.H251Y|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	304					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D303H(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GGTGACAGATCACGGCTCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223543	C	T	55223543	3	4	277	1	0	0	0	0	1	0	0	0	5006	826	29	2	940	2	EGFR	7	55223543	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	11872035	55223543	103915120	25	19500											
FZD9	8326	broad.mit.edu	37	chr7	72849307	72849307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctactgctctactacttcGgcatggccagctcgctctgg	5	12	9	15	2	2	0	0	0	2	0	5	0	3	0	2	3	5	4	2	3	3	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:72849307G>A	uc003tyb.3	+	0	1199	c.970G>A	c.(970-972)Ggc>Agc	p.G324S		NM_003508	NP_003499	O00144	FZD9_HUMAN	Homo sapiens frizzled family receptor 9 (FZD9), mRNA.	324					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CTACTACTTCGGCATGGCCAG	0.657													A	72849307	G	A	72849307	3	1	277	1	0	0	0	0	1	0	0	0	6189	1116	39	1	972	1	FZD9	7	72849307	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	17625764	72849307	86289356	26	19501											
SEMA3E	9723	broad.mit.edu	37	chr7	82997104	82997104	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagaattccttgtacCatggttttgctccctgcgag	7	13	10	11	1	0	1	0	0	0	1	2	2	2	1	3	1	4	5	3	1	3	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:82997104C>A	uc003uhy.2	-	16	2747	c.2126G>T	c.(2125-2127)tGg>tTg	p.W709L	SEMA3E_uc022agy.1_Missense_Mutation_p.W649L	NM_012431	NP_001171600	O15041	SEM3E_HUMAN	Homo sapiens sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E (SEMA3E), transcript variant 1, mRNA.	709					axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCCTTGTACCATGGTTTTGC	0.463													A	82997104	C	A	82997104	3	1	277	1	0	0	0	0	1	0	0	0	14121	595	21	4	205	4	SEMA3E	7	82997104	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	10147797	82997104	76141559	27	19502											
CYP3A7	1577	broad.mit.edu	37	chr7	99261679	99261679	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttggaaacagagagacaTttaatgcttcaaaaactggg	15	11	9	6	0	1	2	1	0	0	2	1	4	1	3	0	2	3	1	0	2	4	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:99261679T>G	uc003urq.3	-	7	812	c.710A>C	c.(709-711)aAt>aCt	p.N237T	ZNF498_uc003urn.3_Intron|CYP3A7_uc003urr.3_Missense_Mutation_p.N124T|CYP3A7_uc011kiy.2_Missense_Mutation_p.N227T|CYP3A7_uc003urs.3_Intron|CYP3A7_uc010lgg.3_Intron	NM_000777	NP_000768	P24462	CP3A7_HUMAN	Homo sapiens cytochrome P450, family 3, subfamily A, polypeptide 5 (CYP3A5), transcript variant 1, mRNA.	237					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					CAGAGAGACATTTAATGCTTC	0.328													G	99261679	T	G	99261679	3	3	277	1	0	0	0	0	1	0	0	0	4214	1493	52	5		5	CYP3A7	7	99261679	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	16264575	99261679	59876984	28	19503											
ASZ1	136991	broad.mit.edu	37	chr7	117067470	117067470	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgctctcgctactctcGcctccgccagccactggcag	4	9	8	20	4	2	0	0	0	2	0	7	0	4	0	5	1	2	3	5	1	1	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:117067470G>A	uc003vjb.2	-	0	108	c.45C>T	c.(43-45)ggC>ggT	p.G15G	ASZ1_uc011kno.1_Silent_p.G15G|ASZ1_uc011knp.1_5'UTR	NM_130768	NP_570124	Q8WWH4	ASZ1_HUMAN	Homo sapiens ankyrin repeat, SAM and basic leucine zipper domain containing 1 (ASZ1), transcript variant 1, mRNA.	15					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			CGCTACTCTCGCCTCCGCCAG	0.662											OREG0003439	type=REGULATORY REGION|Gene=ASZ1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	117067470	G	A	117067470	2	1	277	1	0	0	0	0	0	0	0	1	1074	1074	38	1		1	ASZ1	7	117067470	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	17805791	117067470	42071193	29	19504											
CHPF2	54480	broad.mit.edu	37	chr7	150934492	150934492	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctgaccgtgctgaccccCgaaggggaggcagggctgag	9	4	16	12	2	0	3	0	3	0	0	0	5	0	4	4	4	2	3	4	4	2	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr7:150934492C>G	uc003wjr.1	+	3	2557	c.1044C>G	c.(1042-1044)ccC>ccG	p.P348P	CHPF2_uc003wjq.1_Silent_p.P340P|CHPF2_uc022aqb.1_5'Flank	NM_019015	NP_061888	Q9P2E5	CHPF2_HUMAN	Homo sapiens chondroitin polymerizing factor 2 (CHPF2), mRNA.	348						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TGCTGACCCCCGAAGGGGAGG	0.627													G	150934492	C	G	150934492	2	3	277	1	0	0	0	0	0	0	0	1	3399	639	23	4		4	CHPF2	7	150934492	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	33867022	150934492	8204171	30	19505											
RP1L1	94137	broad.mit.edu	37	chr8	10469501	10469501	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagcttccagaatatcGtggcactgagccatcctggc	9	9	11	12	2	0	3	0	2	0	1	3	4	2	3	3	2	2	2	3	2	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:10469501G>A	uc003wtc.3	-	3	2336	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*		NM_178857	NP_849188	A6NKC6	A6NKC6_HUMAN	Homo sapiens retinitis pigmentosa 1-like 1 (RP1L1), mRNA.	703					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CCAGAATATCGTGGCACTGAG	0.617													A	10469501	G	A	10469501	4	1	277	1	0	0	0	0	0	1	0	0	13624	1153	40	1	5099	1	RP1L1	8	10469501	Nonsense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		10469501	135894521	31	19506											
BLK	640	broad.mit.edu	37	chr8	11406564	11406564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctggccaggtcactcGtcacaggaagagaaggctat	10	7	15	9	1	2	1	2	0	0	1	3	3	2	2	1	6	0	2	1	6	3	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:11406564G>A	uc003wty.3	+	4	882	c.301G>A	c.(301-303)Gtc>Atc	p.V101I		NM_001715	NP_001706	P51451	BLK_HUMAN	Homo sapiens B lymphoid tyrosine kinase (BLK), mRNA.	101	SH3.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.V101I(2)|p.L100L(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CAGGTCACTCGTCACAGGAAG	0.592													A	11406564	G	A	11406564	3	1	277	1	0	0	0	0	1	0	0	0	1450	1145	40	1	315	1	BLK	8	11406564	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	937063	11406564	134957458	32	19507											
SPATC1	375686	broad.mit.edu	37	chr8	145095802	145095802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccccccatcccccttcccGaatgcataattccccaaccc	8	8	3	22	1	0	0	0	0	0	0	3	1	3	0	9	0	3	1	9	0	3	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr8:145095802G>A	uc011lkw.2	+	2	1202	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	SPATC1_uc011lkx.2_Missense_Mutation_p.R367Q	NM_198572	NP_940974	Q76KD6	SPERI_HUMAN	Homo sapiens spermatogenesis and centriole associated 1 (SPATC1), transcript variant 1, mRNA.	367										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCCCTTCCCGAATGCATAAT	0.642													A	145095802	G	A	145095802	3	1	277	1	0	0	0	0	1	0	0	0	15113	1058	37	1	1110	1	SPATC1	8	145095802	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	133689238	145095802	1268220	33	19508											
PIP5KL1	138429	broad.mit.edu	37	chr9	130689473	130689473	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtagaagacgctctgcatGacgatgaagtacgtctgggg	10	8	16	7	3	2	4	0	2	2	2	2	5	2	4	0	3	2	4	0	3	4	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr9:130689473G>A	uc011mao.2	-	6	654	c.609C>T	c.(607-609)gtC>gtT	p.V203V	PIP5KL1_uc004bsu.3_5'UTR	NM_001135219	NP_001128691	Q5T9C9	PI5L1_HUMAN	Homo sapiens phosphatidylinositol-4-phosphate 5-kinase-like 1 (PIP5KL1), transcript variant 1, mRNA.	203	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)	8						CGCTCTGCATGACGATGAAGT	0.697													A	130689473	G	A	130689473	2	1	277	1	0	0	0	0	0	0	0	1	12019	1277	45	2		2	PIP5KL1	9	130689473	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08		130689473	10523958	34	19509											
GRID1	2894	broad.mit.edu	37	chr10	87628864	87628864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgtcctttgcagacggaAagatttgccggaccacggtc	9	10	12	10	3	0	2	0	0	0	2	2	5	1	4	3	3	2	1	3	3	1	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:87628864A>G	uc001kdl.1	-	5	955	c.854T>C	c.(853-855)tTt>tCt	p.F285S	GRID1_uc009xsu.1_Non-coding_Transcript	NM_017551	NP_060021	Q9ULK0	GRID1_HUMAN	Homo sapiens glutamate receptor, ionotropic, delta 1 (GRID1), mRNA.	285						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity	p.I284F(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	TGCAGACGGAAAGATTTGCCG	0.542										Multiple Myeloma(13;0.14)			G	87628864	A	G	87628864	3	3	277	1	0	0	0	0	1	0	0	0	6826	14	1	3	2219	3	GRID1	10	87628864	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		87628864	47905883	35	19510											
PTEN	5728	broad.mit.edu	37	chr10	89720664	89720664	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggacaaaatgtttcActtttgggtaaatacattct	12	18	6	5	0	2	0	1	0	1	0	2	1	2	1	0	2	1	2	0	2	6	9			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr10:89720664A>C	uc001kfb.3	+	7	1847	c.815A>C	c.(814-816)cAc>cCc	p.H272P	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	272	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.F271S(2)|p.H272R(2)|p.D268_F279>VGQNVSLLGKYI(2)|p.F271fs*5(1)|p.G165_*404del(1)|p.F271L(1)|p.G165_K342del(1)|p.H272Y(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAATGTTTCACTTTTGGGTA	0.269		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89720664	A	C	89720664	3	2	277	1	0	0	0	0	1	0	0	0	12823	159	6	5	845	5	PTEN	10	89720664	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	2091800	89720664	45814083	36	19511											
KCNA4	3739	broad.mit.edu	37	chr11	30033088	30033088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactcaaaggaaaaccataCaatacagactgtttccacga	19	7	5	10	1	1	1	1	0	0	1	2	3	2	2	2	1	4	1	2	1	7	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:30033088C>A	uc021qfi.1	-	0	1138	c.1138G>T	c.(1138-1140)Gta>Tta	p.V380L	KCNA4_uc001msk.3_Missense_Mutation_p.V380L	NM_002233	NP_002224	P22459	KCNA4_HUMAN	Homo sapiens potassium voltage-gated channel, shaker-related subfamily, member 4 (KCNA4), mRNA.	380						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						GAAAACCATACAATACAGACT	0.433													A	30033088	C	A	30033088	3	1	277	1	0	0	0	0	1	0	0	0	8063	478	17	4	827	4	KCNA4	11	30033088	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		30033088	104973428	37	19512											
OR5A1	219982	broad.mit.edu	37	chr11	59211187	59211187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcaaccacttcttctgCgacctcccaccagtcctggc	8	10	5	18	1	4	0	2	0	2	0	6	1	6	0	5	1	2	0	5	1	1	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:59211187C>T	uc001nnx.1	+	0	546	c.546C>T	c.(544-546)tgC>tgT	p.C182C		NM_001004728	NP_001004728	Q8NGJ0	OR5A1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily A, member 1 (OR5A1), mRNA.	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ACTTCTTCTGCGACCTCCCAC	0.537													T	59211187	C	T	59211187	2	4	277	1	0	0	0	0	0	0	0	1	11215	776	27	1		1	OR5A1	11	59211187	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08	29178099	59211187	75795329	38	19513											
TMEM109	79073	broad.mit.edu	37	chr11	60687316	60687316	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagaagagagaagccccaGttgatgtcttgacccagata	15	7	10	9	0	1	6	0	2	1	4	1	7	1	6	3	0	2	1	3	0	4	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:60687316G>C	uc001nqg.3	+	1	529	c.151G>C	c.(151-153)Gtt>Ctt	p.V51L		NM_024092	NP_076997	Q9BVC6	TM109_HUMAN	Homo sapiens transmembrane protein 109 (TMEM109), mRNA.	51						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGAAGCCCCAGTTGATGTCTT	0.557													C	60687316	G	C	60687316	3	2	277	1	0	0	0	0	1	0	0	0	16125	1029	36	4	153	4	TMEM109	11	60687316	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	1476129	60687316	74319200	39	19514											
RIN1	9610	broad.mit.edu	37	chr11	66102539	66102539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacacgcgcactttgaagCttctcttgaatttctcccgc	7	13	8	13	3	2	2	0	2	2	0	4	3	2	3	1	1	1	2	1	1	2	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:66102539C>T	uc001ohn.1	-	5	858	c.731G>A	c.(730-732)aGc>aAc	p.S244N	RIN1_uc010roy.1_5'UTR|RIN1_uc009yrd.1_5'UTR|RIN1_uc010roz.1_Missense_Mutation_p.S139N|RIN1_uc010rpa.1_Missense_Mutation_p.S139N	NM_004292	NP_004283	Q13671	RIN1_HUMAN	Homo sapiens Ras and Rab interactor 1 (RIN1), mRNA.	244					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						CACTTTGAAGCTTCTCTTGAA	0.662													T	66102539	C	T	66102539	3	4	277	1	0	0	0	0	1	0	0	0	13462	797	28	2	1640	2	RIN1	11	66102539	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	5415223	66102539	68903977	40	19515											
NLRX1	79671	broad.mit.edu	37	chr11	119044727	119044727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttccggctggcaggcacgGgactttgtagtgacccggag	7	8	15	11	3	0	1	0	1	0	0	1	3	1	3	2	5	0	4	2	5	1	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr11:119044727G>A	uc001pvu.3	+	4	984	c.769G>A	c.(769-771)Gga>Aga	p.G257R	NLRX1_uc010rzc.1_Missense_Mutation_p.G79R|NLRX1_uc001pvv.3_Missense_Mutation_p.G257R|NLRX1_uc001pvw.3_Missense_Mutation_p.G257R|NLRX1_uc001pvx.3_Missense_Mutation_p.G257R	NM_024618	NP_078894	Q86UT6	NLRX1_HUMAN	Homo sapiens NLR family member X1 (NLRX1), transcript variant 1, mRNA.	257	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	p.T256T(1)		cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GGCAGGCACGGGACTTTGTAG	0.592													A	119044727	G	A	119044727	3	1	277	1	0	0	0	0	1	0	0	0	10561	1233	43	2	783	2	NLRX1	11	119044727	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	52942188	119044727	15961789	41	19516											
KDM5A	5927	broad.mit.edu	37	chr12	402172	402172	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttgatttgtctgcacctAattttaatttcttctttcta	7	22	3	9	0	4	1	0	1	4	0	4	1	4	1	2	0	1	1	2	0	3	9			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:402172A>C	uc001qif.1	-	26	4982	c.4619T>G	c.(4618-4620)tTa>tGa	p.L1540*	KDM5A_uc021qsr.1_Nonsense_Mutation_p.L91*	NM_001042603	NP_001036068	P29375	KDM5A_HUMAN	Homo sapiens lysine (K)-specific demethylase 5A (KDM5A), mRNA.	1540	Lys-rich.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.K1540M(1)		NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						GTCTGCACCTAATTTTAATTT	0.378			T	NUP98	AML								C	402172	A	C	402172	4	2	277	1	0	0	0	0	0	1	0	0	8191	372	13	5	461	5	KDM5A	12	402172	Nonsense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		402172	133449723	42	19517											
CD163	9332	broad.mit.edu	37	chr12	7639177	7639177	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcactgccaaatgcgggaTtcttttccattgcatttcat	8	15	8	10	1	2	0	1	0	1	0	3	1	3	1	2	2	3	2	2	2	1	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:7639177T>A	uc001qsz.3	-	9	2504	c.2376A>T	c.(2374-2376)gaA>gaT	p.E792D	CD163_uc001qta.3_Missense_Mutation_p.E792D|CD163_uc009zfw.2_Missense_Mutation_p.E825D	NM_004244	NP_004235	Q86VB7	C163A_HUMAN	Homo sapiens CD163 molecule (CD163), transcript variant 1, mRNA.	792	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAATGCGGGATTCTTTTCCAT	0.512													A	7639177	T	A	7639177	3	1	277	1	0	0	0	0	1	0	0	0	2997	1490	52	5	1122	5	CD163	12	7639177	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	7237005	7639177	126212718	43	19518											
HOXC9	3225	broad.mit.edu	37	chr12	54396220	54396220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttggccctccaggcaaccCcgtggccaactggattcacg	7	8	11	15	2	1	0	1	0	0	0	2	1	2	1	5	4	2	2	5	4	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:54396220C>T	uc001seq.3	+	1	641	c.545C>T	c.(544-546)cCc>cTc	p.P182L		NM_006897	NP_008828	P31274	HXC9_HUMAN	Homo sapiens homeobox C9 (HOXC9), mRNA.	182					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						CCAGGCAACCCCGTGGCCAAC	0.577													T	54396220	C	T	54396220	3	4	277	1	0	0	0	0	1	0	0	0	7372	623	22	2	551	2	HOXC9	12	54396220	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	46757043	54396220	79455675	44	19519											
LRP1	4035	broad.mit.edu	37	chr12	57581220	57581220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaccacccacgggccttcGttttggacgagtgccagaag	9	8	12	12	3	0	2	0	1	0	1	1	4	0	3	4	2	1	1	4	2	1	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:57581220G>A	uc001snd.3	+	41	7478	c.7012G>A	c.(7012-7014)Gtt>Att	p.V2338I		NM_002332	NP_002323	Q07954	LRP1_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 1 (LRP1), mRNA.	2338					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACGGGCCTTCGTTTTGGACGA	0.632													A	57581220	G	A	57581220	3	1	277	1	0	0	0	0	1	0	0	0	9021	1145	40	1	7178	1	LRP1	12	57581220	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	3185000	57581220	76270675	45	19520											
SBNO1	55206	broad.mit.edu	37	chr12	123782584	123782584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgcatcttcacgtttgtgCcactgacagatgctagaaca	10	12	8	11	1	3	3	1	1	2	2	3	3	3	3	1	0	4	3	1	0	2	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr12:123782584C>T	uc010tap.2	-	29	3980	c.3980G>A	c.(3979-3981)gGc>gAc	p.G1327D	SBNO1_uc009zxv.3_Non-coding_Transcript|SBNO1_uc010tao.2_Missense_Mutation_p.G1326D|SBNO1_uc010taq.2_Missense_Mutation_p.G278D	NM_001167856	NP_001161328	A3KN83	SBNO1_HUMAN	Homo sapiens strawberry notch homolog 1 (Drosophila) (SBNO1), transcript variant 1, mRNA.	1327							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CACGTTTGTGCCACTGACAGA	0.428													T	123782584	C	T	123782584	3	4	277	1	0	0	0	0	1	0	0	0	13954	739	26	2	209	2	SBNO1	12	123782584	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	66201364	123782584	10069311	46	19521											
MTHFD1	4522	broad.mit.edu	37	chr14	64882182	64882182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taacactgaagaagtgatcaAtgctattgcacccgagaagg	15	8	10	8	1	1	4	1	2	0	2	1	5	1	4	1	1	3	2	1	1	6	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:64882182A>G	uc001xhb.3	+	4	734	c.347A>G	c.(346-348)aAt>aGt	p.N116S	MTHFD1_uc010aqe.2_Missense_Mutation_p.N152S|MTHFD1_uc010aqf.3_Missense_Mutation_p.N172S	NM_005956	NP_005947	P11586	C1TC_HUMAN	Homo sapiens methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase (MTHFD1), mRNA.	116	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	GAAGTGATCAATGCTATTGCA	0.383													G	64882182	A	G	64882182	3	3	277	1	0	0	0	0	1	0	0	0	10003	101	4	3	365	3	MTHFD1	14	64882182	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		64882182	42467358	47	19522											
CCDC88C	440193	broad.mit.edu	37	chr14	91770270	91770270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggttctgcagcagcGtgtactgcgcggtgagcgct	4	11	17	9	4	1	1	0	1	1	0	1	1	1	1	0	3	6	5	0	3	1	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr14:91770270G>A	uc010aty.3	-	19	3564	c.3410C>T	c.(3409-3411)aCg>aTg	p.T1137M		NM_001080414	NP_001073883	Q9P219	DAPLE_HUMAN	Homo sapiens coiled-coil domain containing 88C (CCDC88C), mRNA.	1137					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTGCAGCAGCGTGTACTGCGC	0.657													A	91770270	G	A	91770270	3	1	277	1	0	0	0	0	1	0	0	0	2893	1145	40	1	2720	1	CCDC88C	14	91770270	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	26888088	91770270	15579270	48	19523											
ATF7IP2	80063	broad.mit.edu	37	chr16	10527480	10527480	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaatatttgtgtaagtttgGaaaggcaaacagcattcctg	15	12	9	5	0	0	0	0	0	0	0	1	1	1	1	1	2	2	4	1	2	6	5			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:10527480G>C	uc002czw.3	+	2	1093	c.934G>C	c.(934-936)Gaa>Caa	p.E312Q	ATF7IP2_uc010uyp.2_Intron|ATF7IP2_uc002czu.3_Missense_Mutation_p.E312Q|ATF7IP2_uc002czv.3_Missense_Mutation_p.E312Q|ATF7IP2_uc010uyo.2_Non-coding_Transcript|ATF7IP2_uc010uyq.2_Non-coding_Transcript	NM_024997	NP_079273	Q5U623	MCAF2_HUMAN	Homo sapiens activating transcription factor 7 interacting protein 2 (ATF7IP2), transcript variant 1, mRNA.	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTAAGTTTGGAAAGGCAAAC	0.328													C	10527480	G	C	10527480	3	2	277	1	0	0	0	0	1	0	0	0	1093	1175	41	4	940	4	ATF7IP2	16	10527480	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		10527480	79827273	49	19524											
VWA3A	146177	broad.mit.edu	37	chr16	22137566	22137566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatatccagcactccctgCggctgctgctggaggagcag	7	9	12	13	1	1	0	1	0	0	0	3	2	3	2	2	3	5	5	2	3	1	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:22137566C>T	uc010vbq.2	+	16	1696	c.1600C>T	c.(1600-1602)Cgg>Tgg	p.R534W	VWA3A_uc010bxd.3_Non-coding_Transcript|VWA3A_uc010bxc.2_Missense_Mutation_p.R542W	NM_173615	NP_775886	A6NCI4	VWA3A_HUMAN	Homo sapiens von Willebrand factor A domain containing 3A (VWA3A), mRNA.	534	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GCACTCCCTGCGGCTGCTGCT	0.512													T	22137566	C	T	22137566	3	4	277	1	0	0	0	0	1	0	0	0	17342	759	27	1	1666	1	VWA3A	16	22137566	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	11610086	22137566	68217187	50	19525											
PLCG2	5336	broad.mit.edu	37	chr16	81942086	81942086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaaggtggagaagaggacGagtgccgagaagttgctgca	14	5	17	5	2	0	4	0	0	0	4	0	8	0	5	1	3	3	3	1	3	4	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr16:81942086G>A	uc002fgt.3	+	16	1801	c.1623G>A	c.(1621-1623)acG>acA	p.T541T	PLCG2_uc010chg.1_Silent_p.T541T	NM_002661	NP_002652	P16885	PLCG2_HUMAN	Homo sapiens phospholipase C, gamma 2 (phosphatidylinositol-specific) (PLCG2), mRNA.	541	SH2 1.		T -> A (in dbSNP:rs11548657).		intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGAAGAGGACGAGTGCCGAGA	0.552													A	81942086	G	A	81942086	2	1	277	1	0	0	0	0	0	0	0	1	12113	1045	37	1		1	PLCG2	16	81942086	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	59804520	81942086	8412667	51	19526											
UBTF	7343	broad.mit.edu	37	chr17	42284949	42284949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcctcatcctcttcaTcatcctcctcggactccttg	5	14	4	18	2	5	0	4	0	1	0	11	1	10	1	5	1	0	0	5	1	0	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr17:42284949T>C	uc010czs.3	-	19	2338	c.2042A>G	c.(2041-2043)gAt>gGt	p.D681G	UBTF_uc002igc.3_Missense_Mutation_p.D644G|UBTF_uc002igd.3_Missense_Mutation_p.D644G|UBTF_uc010czt.3_Missense_Mutation_p.D681G	NM_014233	NP_055048	P17480	UBF1_HUMAN	Homo sapiens upstream binding transcription factor, RNA polymerase I (UBTF), transcript variant 1, mRNA.	681	Asp/Glu/Ser-rich (acidic).				positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		atcctcttcatcatcctcctc	0.592													C	42284949	T	C	42284949	3	2	277	1	0	0	0	0	1	0	0	0	17011	1435	50	3	260	3	UBTF	17	42284949	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08		42284949	38910261	52	19527											
DSC2	1824	broad.mit.edu	37	chr18	28671015	28671015	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggaaaagtggaaaaggAcccaaggagttttctagcat	16	8	12	5	0	1	1	0	1	1	0	1	5	1	5	1	4	1	2	1	4	7	3			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:28671015A>C	uc002kwl.4	-	3	904	c.450T>G	c.(448-450)ggT>ggG	p.G150G	DSC2_uc002kwk.4_Silent_p.G150G	NM_024422	NP_077740	Q02487	DSC2_HUMAN	Homo sapiens desmocollin 2 (DSC2), transcript variant Dsc2a, mRNA.	150	Cadherin 1.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			GTGGAAAAGGACCCAAGGAGT	0.408													C	28671015	A	C	28671015	2	2	277	1	0	0	0	0	0	0	0	1	4805	262	10	5		5	DSC2	18	28671015	Silent	SNP	A	TCGA-76-6661-01B-11D-1845-08		28671015	49406233	53	19528											
DSG3	1830	broad.mit.edu	37	chr18	29046498	29046498	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgttcttacagaatacAcgggtaaaacttctacaggc	14	11	7	9	1	2	1	0	0	2	1	2	1	2	1	0	2	4	2	0	2	6	7			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:29046498A>T	uc002kws.3	+	10	1526	c.1417A>T	c.(1417-1419)Acg>Tcg	p.T473S		NM_001944	NP_001935	P32926	DSG3_HUMAN	Homo sapiens desmoglein 3 (DSG3), mRNA.	473	Cadherin 4.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.T473T(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TACAGAATACACGGGTAAAAC	0.358													T	29046498	A	T	29046498	3	4	277	1	0	0	0	0	1	0	0	0	4817	159	6	5	1459	5	DSG3	18	29046498	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08	375483	29046498	49030750	54	19529											
NEDD4L	23327	broad.mit.edu	37	chr18	55916158	55916158	+	Frame_Shift_Del	DEL	T	T	-																															acccaaaatggaatgaagaaTtttatttcagggtaagtttt																										TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr18:55916158delT	uc002lgy.3	+	3	515	c.232delT	c.(232-234)tttfs	p.F78fs	NEDD4L_uc002lgz.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc002lgx.3_Frame_Shift_Del_p.F78fs|NEDD4L_uc010xee.1_5'UTR|NEDD4L_uc002lhc.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhd.2_5'UTR|NEDD4L_uc002lhb.2_5'UTR|NEDD4L_uc002lhe.2_Frame_Shift_Del_p.F70fs|NEDD4L_uc002lhf.3_5'UTR|NEDD4L_uc010dpl.2_Non-coding_Transcript|NEDD4L_uc002lhg.3_5'UTR|NEDD4L_uc002lhh.2_5'UTR	NM_001144967	NP_001138439	Q96PU5	NED4L_HUMAN	Homo sapiens neural precursor cell expressed, developmentally down-regulated 4-like (NEDD4L), transcript variant j, mRNA.	78	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity	p.E77Q(1)		breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						GAATGAAGAATTTTATTTCAG	0.313													-	55916158	T	-	55916158	7	5	277	1	0	1	0	1	0	0	0	0	10387	1493	52	0	274	0	NEDD4L	18	55916158	Frame_Shift_Del	DEL	T	TCGA-76-6661-01B-11D-1845-08	26869660	55916158	22161090	55	19530											
CREB3L3	84699	broad.mit.edu	37	chr19	4171163	4171163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagcccagacaggcacCtgtgtcgcagtgagtcctgg	9	7	13	12	1	1	2	1	1	0	1	3	2	2	2	3	2	1	2	3	2	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:4171163C>T	uc002lzl.3	+	7	1082	c.966C>T	c.(964-966)acC>acT	p.T322T	CREB3L3_uc002lzm.3_Silent_p.T312T|CREB3L3_uc010xib.2_Silent_p.T311T|CREB3L3_uc010xic.2_Silent_p.L278L	NM_032607	NP_115996	Q68CJ9	CR3L3_HUMAN	Homo sapiens cAMP responsive element binding protein 3-like 3 (CREB3L3), mRNA.	322					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACAGGCACCTGTGTCGCAG	0.602													T	4171163	C	T	4171163	2	4	277	1	0	0	0	0	0	0	0	1	3889	668	24	2		2	CREB3L3	19	4171163	Silent	SNP	C	TCGA-76-6661-01B-11D-1845-08		4171163	54957820	56	19531											
MYO1F	4542	broad.mit.edu	37	chr19	8616651	8616651	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccaaagtcgcttctgtcGtccgtgccgtccacctggta	6	11	9	15	4	2	0	1	0	1	0	6	0	4	0	5	1	1	2	5	1	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:8616651G>A	uc002mkg.3	-	7	882	c.744C>T	c.(742-744)gaC>gaT	p.D248D	MYO1F_uc010xkf.2_3'UTR	NM_012335	NP_036467	O00160	MYO1F_HUMAN	Homo sapiens myosin IF (MYO1F), mRNA.	248	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity	p.D248D(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGCTTCTGTCGTCCGTGCCGT	0.582													A	8616651	G	A	8616651	2	1	277	1	0	0	0	0	0	0	0	1	10149	1136	40	1		1	MYO1F	19	8616651	Silent	SNP	G	TCGA-76-6661-01B-11D-1845-08	4445488	8616651	50512332	57	19532											
JAK3	3718	broad.mit.edu	37	chr19	17937673	17937673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcgctgaatgatggcCggtcctgtgggctaggggcc	5	7	18	11	2	0	2	0	2	0	0	1	2	1	2	4	6	0	2	4	6	2	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:17937673C>T	uc002nhn.4	-	23	3354	c.3254G>A	c.(3253-3255)cGg>cAg	p.R1085Q	JAK3_uc010ebh.3_Intron	NM_000215	NP_000206	P52333	JAK3_HUMAN	Homo sapiens Janus kinase 3 (JAK3), mRNA.	1085	Protein kinase 2.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						GAATGATGGCCGGTCCTGTGG	0.632		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								T	17937673	C	T	17937673	3	4	277	1	0	0	0	0	1	0	0	0	7997	652	23	1	124	1	JAK3	19	17937673	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	9321022	17937673	41191310	58	19533											
PAK4	10298	broad.mit.edu	37	chr19	39665625	39665625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggagatgtacaacagcTacctggtgggggacgagctc	9	8	16	8	1	0	1	0	0	0	1	1	4	0	2	1	5	5	3	1	5	3	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:39665625T>C	uc002okj.1	+	6	1614	c.1153T>C	c.(1153-1155)Tac>Cac	p.Y385H	PAK4_uc002okl.1_Missense_Mutation_p.Y385H|PAK4_uc002okn.1_Missense_Mutation_p.Y385H|PAK4_uc002okm.1_Missense_Mutation_p.Y232H|PAK4_uc002oko.1_Missense_Mutation_p.Y232H|PAK4_uc002okp.1_Missense_Mutation_p.Y295H	NM_001014831	NP_005875	O96013	PAK4_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 4 (PAK4), transcript variant 2, mRNA.	385	Protein kinase.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			GTACAACAGCTACCTGGTGGG	0.617													C	39665625	T	C	39665625	3	2	277	1	0	0	0	0	1	0	0	0	11479	1522	53	3	1167	3	PAK4	19	39665625	Missense_Mutation	SNP	T	TCGA-76-6661-01B-11D-1845-08	21727952	39665625	19463358	59	19534											
ZNF8	7554	broad.mit.edu	37	chr19	58805490	58805490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcgatctgaaagccaaGcatcacgcaaggaagagggc	14	4	12	11	2	2	2	1	1	1	1	3	4	2	3	2	2	3	2	2	2	4	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr19:58805490G>A	uc002qry.1	+	3	446	c.316G>A	c.(316-318)Gca>Aca	p.A106T	ZNF8_uc002qrz.3_Non-coding_Transcript	NM_021089	NP_066575	P17098	ZNF8_HUMAN	Homo sapiens zinc finger protein 8 (ZNF8), mRNA.	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		TGAAAGCCAAGCATCACGCAA	0.542													A	58805490	G	A	58805490	3	1	277	1	0	0	0	0	1	0	0	0	18266	971	34	2	330	2	ZNF8	19	58805490	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08	19139865	58805490	323493	60	19535											
BPI	671	broad.mit.edu	37	chr20	36964027	36964027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaggcttccctctccCgacgccggccagagtccagc	9	5	10	17	3	1	2	0	0	1	2	4	3	3	2	5	2	1	1	5	2	1	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:36964027C>T	uc002xib.2	+	13	1438	c.1376C>T	c.(1375-1377)cCg>cTg	p.P459L		NM_001725	NP_001716	P17213	BPI_HUMAN	Homo sapiens bactericidal/permeability-increasing protein (BPI), mRNA.	459					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TTCCCTCTCCCGACGCCGGCC	0.557													T	36964027	C	T	36964027	3	4	277	1	0	0	0	0	1	0	0	0	1499	652	23	1	1430	1	BPI	20	36964027	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		36964027	26061493	61	19536											
TTPAL	79183	broad.mit.edu	37	chr20	43118147	43118147	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtgtgacgactccttgCgagctgtgaagtcacagctg	9	9	12	11	2	1	2	1	2	0	0	2	4	2	2	1	0	3	2	1	0	1	1			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr20:43118147C>T	uc002xmc.1	+	5	1118	c.994C>T	c.(994-996)Cga>Tga	p.R332*	TTPAL_uc002xmd.1_Nonsense_Mutation_p.R332*|TTPAL_uc010ggr.1_Nonsense_Mutation_p.R145*	NM_024331	NP_077307	Q9BTX7	TTPAL_HUMAN	Homo sapiens tocopherol (alpha) transfer protein-like (TTPAL), transcript variant 1, mRNA.	332						intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CGACTCCTTGCGAGCTGTGAA	0.547													T	43118147	C	T	43118147	4	4	277	1	0	0	0	0	0	1	0	0	16839	760	27	1	1008	1	TTPAL	20	43118147	Nonsense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	6154120	43118147	19907373	62	19537											
RIPK4	54101	broad.mit.edu	37	chr21	43162031	43162031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccgccaggtgcagcAggctggcaccgctgtccagt	6	6	12	17	2	0	0	0	0	0	0	2	0	2	0	6	3	2	5	6	3	0	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chr21:43162031A>T	uc002yzn.1	-	7	1370	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q		NM_020639	NP_065690	Q96T11	Q96T11_HUMAN	Homo sapiens receptor-interacting serine-threonine kinase 4 (RIPK4), mRNA.	441						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.L441L(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAGGTGCAGCAGGCTGGCACC	0.637													T	43162031	A	T	43162031	3	4	277	1	0	0	0	0	1	0	0	0	13474	188	7	5	1036	5	RIPK4	21	43162031	Missense_Mutation	SNP	A	TCGA-76-6661-01B-11D-1845-08		43162031	4967864	63	19538											
MAGEC3	139081	broad.mit.edu	37	chrX	140983301	140983301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacaggaagatggccGccgagggctgaccgaggcgt	10	3	16	12	4	0	3	0	1	0	2	0	6	0	4	4	4	0	1	4	4	1	0			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:140983301G>A	uc011mwp.2	+	5	1079	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	MAGEC3_uc004fbs.3_Intron|MAGEC3_uc010nsj.3_5'Flank|MAGEC3_uc022cfh.1_5'Flank	NM_138702	NP_619647	Q8TD91	MAGC3_HUMAN	Homo sapiens melanoma antigen family C, 3 (MAGEC3), transcript variant 1, mRNA.	360	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GAAGATGGCCGCCGAGGGCTG	0.607													A	140983301	G	A	140983301	3	1	277	1	0	0	0	0	1	0	0	0	9257	1087	38	1	1101	1	MAGEC3	23	140983301	Missense_Mutation	SNP	G	TCGA-76-6661-01B-11D-1845-08		140983301	14287259	64	19539											
ARHGAP4	393	broad.mit.edu	37	chrX	153175809	153175809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtgggcccgaagcacaCggccaggttgtaggggtcca	8	5	16	12	3	0	0	0	0	0	0	1	1	1	0	3	5	2	3	3	5	2	2			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrX:153175809C>T	uc004fjk.2	-	16	2030	c.1972G>A	c.(1972-1974)Gtg>Atg	p.V658M	ARHGAP4_uc011mzf.2_Missense_Mutation_p.V635M|ARHGAP4_uc004fjl.2_Missense_Mutation_p.V698M|ARHGAP4_uc010nup.2_Intron	NM_001666	NP_001657	P98171	RHG04_HUMAN	Homo sapiens Rho GTPase activating protein 4 (ARHGAP4), transcript variant 2, mRNA.	658	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCGAAGCACACGGCCAGGTTG	0.677													T	153175809	C	T	153175809	3	4	277	1	0	0	0	0	1	0	0	0	888	536	19	1	892	1	ARHGAP4	23	153175809	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08	12192508	153175809	2094751	65	19540											
PCDH11Y	83259	broad.mit.edu	37	chrY	4966872	4966872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgctctcataactgtgaCggataaggatgcggaccata	13	10	10	8	2	1	1	1	1	1	0	2	4	1	4	1	3	3	1	1	3	4	4			TCGA-76-6661-01B-11D-1845-08	TCGA-76-6661-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8329c910-7ccf-4e84-b468-bd6cf23327a2	6fd1c469-0a02-4317-8b70-ff886a384a28	g.chrY:4966872C>T	uc004fqo.3	+	1	1987	c.1253C>T	c.(1252-1254)aCg>aTg	p.T418M	PCDH11Y_uc010nwg.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fql.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqm.1_Missense_Mutation_p.T407M|PCDH11Y_uc004fqn.1_Missense_Mutation_p.T418M|PCDH11Y_uc004fqp.1_Missense_Mutation_p.T189M	NM_032973	NP_116755	Q9BZA8	PC11Y_HUMAN	Homo sapiens protocadherin 11 Y-linked (PCDH11Y), transcript variant c, mRNA.	418	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T407M(1)|p.T418M(1)		autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ATAACTGTGACGGATAAGGAT	0.413													T	4966872	C	T	4966872	3	4	277	1	0	0	0	0	1	0	0	0	11585	536	19	1	1295	1	PCDH11Y	24	4966872	Missense_Mutation	SNP	C	TCGA-76-6661-01B-11D-1845-08		4966872	54406694	66	19541											
AMY2B	280	broad.mit.edu	37	chr1	104116388	104116388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggagaaagattatgtgcGttccaagattgccgaatata	14	11	10	6	2	0	3	0	0	0	3	1	5	1	3	2	1	2	1	2	1	6	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:104116388G>A	uc010ouo.2	+	15	2276	c.572G>A	c.(571-573)cGt>cAt	p.R191H	AMY2B_uc001duq.3_Missense_Mutation_p.R191H|AMY2B_uc001dur.3_Missense_Mutation_p.R191H|AMY2B_uc001dus.1_5'Flank	NM_020978	NP_066188	P19961	AMY2B_HUMAN	Homo sapiens amylase, alpha 2B (pancreatic) (AMY2B), mRNA.	191					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	p.R191C(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GATTATGTGCGTTCCAAGATT	0.413													A	104116388	G	A	104116388	3	1	278	1	0	0	0	0	1	0	0	0	595	1145	40	1	586	1	AMY2B	1	104116388	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		104116388	145134233	1	19542											
TCHH	7062	broad.mit.edu	37	chr1	152080354	152080354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcctccctctcctggCggagctgttcctcctcgcgg	1	12	11	17	3	1	0	0	0	1	0	7	1	5	1	5	3	1	4	5	3	0	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:152080354C>T	uc009wne.1	-	2	5611	c.5339G>A	c.(5338-5340)cGc>cAc	p.R1780H	TCHH_uc001ezp.2_Missense_Mutation_p.R1780H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1780	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTCTCCTGGCGGAGCTGTTC	0.592													T	152080354	C	T	152080354	3	4	278	1	0	0	0	0	1	0	0	0	15800	768	27	1	496	1	TCHH	1	152080354	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	47963966	152080354	97170267	2	19543											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:204135375_204135377delAGC	uc001haq.2	-	0	89_91	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L		NM_000537	NP_000528	P00797	RENI_HUMAN	Homo sapiens renin (REN), mRNA.	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													-	204135377	AGC	-	204135375	7	5	278	1	0	1	0	1	0	0	0	0	13312	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-76-6662-01A-11D-1845-08	52055021	204135375	45115246	3	19544											
OR2L3	391192	broad.mit.edu	37	chr1	248224733	248224733	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcactgtagtaactttctaCtatgcaccttttgtctacac	9	16	4	12	0	3	0	1	0	2	0	3	0	3	0	1	0	4	3	1	0	5	8			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr1:248224733C>A	uc001idx.1	+	0	750	c.750C>A	c.(748-750)taC>taA	p.Y250*	OR2L13_uc001ids.3_Intron	NM_001004687	NP_001004687	Q8NG85	OR2L3_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 3 (OR2L3), mRNA.	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACTTTCTACTATGCACCTT	0.502													A	248224733	C	A	248224733	4	1	278	1	0	0	0	0	0	1	0	0	11084	576	20	4	752	4	OR2L3	1	248224733	Nonsense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	44089358	248224733	1025888	4	19545											
GPAT2	150763	broad.mit.edu	37	chr2	96691751	96691751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagcttctggcactgaCgatgtattcctgcccaagag	9	9	10	13	1	1	2	0	1	1	1	2	3	2	2	3	1	3	4	3	1	2	3			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:96691751C>T	uc002svf.3	-	11	1388	c.1165G>A	c.(1165-1167)Gtc>Atc	p.V389I	GPAT2_uc002sve.3_Missense_Mutation_p.V191I|GPAT2_uc002svd.3_Missense_Mutation_p.V202I|GPAT2_uc002svg.3_Missense_Mutation_p.V262I|GPAT2_uc010yuh.2_Missense_Mutation_p.V318I|GPAT2_uc002svh.3_Missense_Mutation_p.V389I	NM_207328	NP_997211	Q6NUI2	GPAT2_HUMAN	Homo sapiens glycerol-3-phosphate acyltransferase 2, mitochondrial (GPAT2), nuclear gene encoding mitochondrial protein, mRNA.	389					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGGCACTGACGATGTATTCC	0.612													T	96691751	C	T	96691751	3	4	278	1	0	0	0	0	1	0	0	0	6643	536	19	1	1266	1	GPAT2	2	96691751	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		96691751	146507622	5	19546											
TTN	7273	broad.mit.edu	37	chr2	179395245	179395245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaagttggttttagacgttCcaccttcaccagaaatctca	11	13	7	10	1	2	2	2	0	1	2	4	2	3	2	3	1	0	4	3	1	3	6			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179395245C>A	uc021vsy.1	-	306	98618	c.98393G>T	c.(98392-98394)gGa>gTa	p.G32798V	MIR548N_uc021vsx.1_Intron|LOC100506866_uc002umo.3_Intron|LOC100506866_uc002ump.2_Intron|TTN_uc021vsz.1_Missense_Mutation_p.G26493V|TTN_uc021vta.1_Missense_Mutation_p.G26426V|TTN_uc021vtb.1_Missense_Mutation_p.G26301V|TTN_uc002umq.3_5'Flank	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	33725	Ig-like 145.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTAGACGTTCCACCTTCACC	0.363													A	179395245	C	A	179395245	3	1	278	1	0	0	0	0	1	0	0	0	16837	855	30	4	1902	4	TTN	2	179395245	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	82703494	179395245	63804128	6	19547											
TTN	7273	broad.mit.edu	37	chr2	179485027	179485027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaggagaagacagcGtcatcgaactcagtgactgt	12	7	13	9	2	2	3	2	1	0	2	3	5	2	3	0	2	3	2	0	2	2	0			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr2:179485027G>A	uc021vsy.1	-	196	38742	c.38517C>T	c.(38515-38517)gaC>gaT	p.D12839D	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.D6534D|TTN_uc021vta.1_Silent_p.D6467D|TTN_uc021vtb.1_Silent_p.D6342D	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	13766	Ig-like 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D12839D(1)|p.D6342D(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAGACAGCGTCATCGAACT	0.433													A	179485027	G	A	179485027	2	1	278	1	0	0	0	0	0	0	0	1	16837	1136	40	1		1	TTN	2	179485027	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	89782	179485027	63714346	7	19548											
MYL3	4634	broad.mit.edu	37	chr3	46901034	46901034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctccttgtcgaagacccGcagcccctccacgaagtcct	7	7	8	19	3	0	1	0	0	0	1	4	3	3	1	7	0	1	1	7	0	2	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:46901034G>A	uc003cql.1	-	3	505	c.412C>T	c.(412-414)Cgg>Tgg	p.R138W		NM_000258	NP_000249	P08590	MYL3_HUMAN	Homo sapiens myosin, light chain 3, alkali; ventricular, skeletal, slow (MYL3), mRNA.	138	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|positive regulation of ATPase activity|regulation of striated muscle contraction|regulation of the force of heart contraction|ventricular cardiac muscle tissue morphogenesis	A band|cytosol|I band|muscle myosin complex	actin monomer binding|calcium ion binding|myosin II heavy chain binding|structural constituent of muscle			breast(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(193;0.00116)|KIRC - Kidney renal clear cell carcinoma(197;0.00557)|Kidney(197;0.0063)		TCGAAGACCCGCAGCCCCTCC	0.572													A	46901034	G	A	46901034	3	1	278	1	0	0	0	0	1	0	0	0	10124	1086	38	1	187	1	MYL3	3	46901034	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		46901034	151121396	8	19549											
PCOLCE2	26577	broad.mit.edu	37	chr3	142567280	142567280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactctcgaggtctatgaatCggaaattgagaacgactact	13	10	9	9	3	2	2	0	2	2	1	4	6	2	3	0	2	2	0	0	2	5	3	rs143959509		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr3:142567280C>T	uc003evd.3	-	2	534	c.227G>A	c.(226-228)cGa>cAa	p.R76Q		NM_013363	NP_037495	Q9UKZ9	PCOC2_HUMAN	Homo sapiens procollagen C-endopeptidase enhancer 2 (PCOLCE2), mRNA.	76	CUB 1.					extracellular region	collagen binding|heparin binding|peptidase activator activity			NS(1)|endometrium(1)|large_intestine(11)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	32						GTCTATGAATCGGAAATTGAG	0.473													T	142567280	C	T	142567280	3	4	278	1	0	0	0	0	1	0	0	0	11671	884	31	1	1048	1	PCOLCE2	3	142567280	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	95666246	142567280	55455150	9	19550											
UGT2A3	79799	broad.mit.edu	37	chr4	69817091	69817091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcataagcgtctgattgtAgataaagctctcacacatca	13	12	6	10	1	4	2	3	1	2	1	5	2	4	2	0	0	2	2	0	0	4	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:69817091A>G	uc003hef.2	-	0	419	c.388T>C	c.(388-390)Tac>Cac	p.Y130H	UGT2A3_uc010ihp.1_Non-coding_Transcript	NM_024743	NP_079019	Q6UWM9	UD2A3_HUMAN	Homo sapiens UDP glucuronosyltransferase 2 family, polypeptide A3 (UGT2A3), mRNA.	130						integral to membrane	glucuronosyltransferase activity	p.I129M(1)		NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTCTGATTGTAGATAAAGCTC	0.383													G	69817091	A	G	69817091	3	3	278	1	0	0	0	0	1	0	0	0	17057	420	15	3	1219	3	UGT2A3	4	69817091	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08		69817091	121337185	10	19551											
ANXA3	306	broad.mit.edu	37	chr4	79503370	79503370	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtgatctctctggccacTttgagcatctcatggtggcc	6	12	12	11	0	3	2	1	2	3	0	5	2	3	2	2	4	1	1	2	4	0	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:79503370T>A	uc003hld.3	+	4	548	c.238T>A	c.(238-240)Ttt>Att	p.F80I		NM_005139	NP_005130	P12429	ANXA3_HUMAN	Homo sapiens annexin A3 (ANXA3), mRNA.	80					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						CTCTGGCCACTTTGAGCATCT	0.428													A	79503370	T	A	79503370	3	1	278	1	0	0	0	0	1	0	0	0	719	1609	56	5	252	5	ANXA3	4	79503370	Missense_Mutation	SNP	T	TCGA-76-6662-01A-11D-1845-08	9686279	79503370	111650906	11	19552											
ODZ3	55714	broad.mit.edu	37	chr4	183714569	183714569	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggacagcacctgcagttTttttatgctgacttaactta	10	15	7	9	0	0	1	0	1	0	0	0	2	0	2	1	1	4	4	1	1	4	7			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr4:183714569T>C	uc003ivd.1	+	24	6819	c.6744T>C	c.(6742-6744)ttT>ttC	p.F2248F		NM_001080477	NP_001073946	Q9P273	TEN3_HUMAN	Homo sapiens odz, odd Oz/ten-m homolog 3 (Drosophila) (ODZ3), mRNA.	2248					signal transduction	integral to membrane				NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(35)|lung(56)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(4)	129		all_lung(41;2.69e-14)|Lung NSC(41;1.92e-11)|Melanoma(52;1.74e-05)|Colorectal(36;0.0062)|Breast(14;0.00748)|all_hematologic(60;0.0162)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_neural(102;0.155)|Medulloblastoma(177;0.184)		all cancers(43;1.42e-24)|Epithelial(43;6.86e-23)|OV - Ovarian serous cystadenocarcinoma(60;2.16e-11)|Colorectal(24;9.75e-06)|STAD - Stomach adenocarcinoma(60;2.96e-05)|COAD - Colon adenocarcinoma(29;0.00103)|GBM - Glioblastoma multiforme(59;0.00462)|LUSC - Lung squamous cell carcinoma(40;0.0391)|READ - Rectum adenocarcinoma(43;0.0487)		ACCTGCAGTTTTTTTATGCTG	0.438													C	183714569	T	C	183714569	2	2	278	1	0	0	0	0	0	0	0	1	10912	1838	64	3		3	ODZ3	4	183714569	Silent	SNP	T	TCGA-76-6662-01A-11D-1845-08	104211199	183714569	7439707	12	19553											
PIK3R1	5295	broad.mit.edu	37	chr5	67589590	67589591	+	In_Frame_Ins	INS	-	-	TAT																															tagggaaaaaattacatgaaINStataacactcagtttcaaga																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:67589590_67589591insTAT	uc003jva.3	+	10	1933_1934	c.1353_1354insTAT	c.(1351-1356)insTAT	p.452_453insY	PIK3R1_uc003jvc.3_In_Frame_Ins_p.152_153insY|PIK3R1_uc003jvd.3_In_Frame_Ins_p.182_183insY|PIK3R1_uc003jve.3_In_Frame_Ins_p.131_132insY|PIK3R1_uc021xzn.1_In_Frame_Ins_p.89_90insY|PIK3R1_uc011crb.2_In_Frame_Ins_p.122_123insY	NM_181523	NP_852664	P27986	P85A_HUMAN	Homo sapiens phosphoinositide-3-kinase, regulatory subunit 1 (alpha) (PIK3R1), transcript variant 1, mRNA.	452					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N453_T454insN(4)|p.H450_E451del(4)|p.G446_Y452>VI(2)|p.Y452N(2)|p.E451_Y452del(2)|p.D434_Q475del(2)|p.E451_Y452delEY(2)|p.Y152N(1)|p.Y452_Q455>SGGSRIK(1)|p.0?(1)|p.?(1)|p.Y182N(1)|p.453_454insN(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATTACATGAATATAACACTCA	0.277			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			TAT	67589591	-	TAT	67589590	7	5	278	1	0	1	1	0	0	0	0	0	11995	98	4	0	1521	0	PIK3R1	5	67589590	In_Frame_Ins	INS	-	TCGA-76-6662-01A-11D-1845-08		67589590	113325670	13	19554											
GPR98	84059	broad.mit.edu	37	chr5	89953946	89953946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaagagatgacaatgacGaggaaggagaagaattattc	17	7	12	5	1	0	5	0	2	0	3	1	9	0	6	0	2	1	1	0	2	6	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:89953946G>A	uc003kju.3	+	20	4699	c.4603G>A	c.(4603-4605)Gag>Aag	p.E1535K	GPR98_uc003kjt.3_5'UTR	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	1535	Calx-beta 10.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGACAATGACGAGGAAGGAGA	0.358													A	89953946	G	A	89953946	3	1	278	1	0	0	0	0	1	0	0	0	6776	1059	37	1	4685	1	GPR98	5	89953946	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	22364356	89953946	90961314	14	19555											
STK10	6793	broad.mit.edu	37	chr5	171488225	171488225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtcggtggtgagcctcttCatggccagctccaggtcctc	4	12	12	13	1	2	1	1	1	1	0	6	1	4	1	4	4	2	1	4	4	0	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr5:171488225C>T	uc003mbo.1	-	13	2430	c.2130G>A	c.(2128-2130)atG>atA	p.M710I		NM_005990	NP_005981	O94804	STK10_HUMAN	Homo sapiens serine/threonine kinase 10 (STK10), mRNA.	710			M -> T (in dbSNP:rs34936670).				ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TGAGCCTCTTCATGGCCAGCT	0.612													T	171488225	C	T	171488225	3	4	278	1	0	0	0	0	1	0	0	0	15382	826	29	2	800	2	STK10	5	171488225	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	81534279	171488225	9427035	15	19556											
IMPG1	3617	broad.mit.edu	37	chr6	76715225	76715225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtctcttaaagatggccGtaagttgcatctctgtggag	8	14	12	7	1	2	1	0	0	2	1	4	2	2	2	1	2	1	3	1	2	3	3			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:76715225G>A	uc003pik.1	-	9	1044	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001563	NP_001554	Q17R60	IMPG1_HUMAN	Homo sapiens interphotoreceptor matrix proteoglycan 1 (IMPG1), mRNA.	305	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGATGGCCGTAAGTTGCAT	0.448													A	76715225	G	A	76715225	3	1	278	1	0	0	0	0	1	0	0	0	7786	1145	40	1	1511	1	IMPG1	6	76715225	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		76715225	94399842	16	19557											
ULBP1	80329	broad.mit.edu	37	chr6	150290460	150290460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagatgtggcttgaagaaTttttgatgtactgggaacaa	13	13	12	3	0	0	4	0	2	0	2	0	5	0	5	0	2	2	3	0	2	6	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:150290460T>G	uc003qnp.3	+	2	632	c.589T>G	c.(589-591)Ttt>Gtt	p.F197V		NM_025218	NP_079494	Q9BZM6	N2DL1_HUMAN	Homo sapiens UL16 binding protein 1 (ULBP1), mRNA.	197	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity	p.E196*(1)		large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		GCTTGAAGAATTTTTGATGTA	0.443													G	150290460	T	G	150290460	3	3	278	1	0	0	0	0	1	0	0	0	17074	1493	52	5	599	5	ULBP1	6	150290460	Missense_Mutation	SNP	T	TCGA-76-6662-01A-11D-1845-08	73575235	150290460	20824607	17	19558											
KIF25	3834	broad.mit.edu	37	chr6	168443281	168443281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccctgagggagatggcGtgcatcagccgcagccttgc	6	8	15	12	2	1	2	1	1	0	1	1	3	1	2	3	3	4	2	3	3	0	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr6:168443281G>A	uc003qwk.1	+	7	1132	c.870G>A	c.(868-870)gcG>gcA	p.A290A	KIF25_uc003qwl.1_Intron	NM_030615	NP_085118	Q9UIL4	KIF25_HUMAN	Homo sapiens kinesin family member 25 (KIF25), transcript variant 1, mRNA.	290	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GGGAGATGGCGTGCATCAGCC	0.647													A	168443281	G	A	168443281	2	1	278	1	0	0	0	0	0	0	0	1	8351	1132	40	1		1	KIF25	6	168443281	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	18152821	168443281	2671786	18	19559											
TFPI2	7980	broad.mit.edu	37	chr7	93516588	93516588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaccttttgcacatgcacGtttgcaatcctccctgctaa	9	13	5	14	1	0	0	0	0	0	0	2	0	2	0	3	0	5	5	3	0	3	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:93516588G>A	uc003umy.1	-	3	691	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	GNGT1_uc003umx.1_Intron|TFPI2_uc003umz.1_Silent_p.N180N|TFPI2_uc003una.1_Missense_Mutation_p.R195C	NM_006528	NP_006519	P48307	TFPI2_HUMAN	Homo sapiens tissue factor pathway inhibitor 2 (TFPI2), mRNA.	206	BPTI/Kunitz inhibitor 3.				blood coagulation	proteinaceous extracellular matrix	extracellular matrix structural constituent|serine-type endopeptidase inhibitor activity			endometrium(1)|large_intestine(5)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	all_cancers(62;4.45e-10)|all_epithelial(64;2.92e-09)|Lung NSC(181;0.218)		STAD - Stomach adenocarcinoma(171;0.000967)			GCACATGCACGTTTGCAATCC	0.323													A	93516588	G	A	93516588	3	1	278	1	0	0	0	0	1	0	0	0	15909	1145	40	1	99	1	TFPI2	7	93516588	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		93516588	65622075	19	19560											
ZAN	7455	broad.mit.edu	37	chr7	100364654	100364654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccgccacctgcacagcctCgggtgacccccactacctga	7	6	9	19	2	0	2	0	2	0	0	1	2	0	2	7	1	4	1	7	1	1	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:100364654C>T	uc003uwj.3	+	24	4799	c.4634C>T	c.(4633-4635)tCg>tTg	p.S1545L	ZAN_uc003uwk.3_Missense_Mutation_p.S1545L|ZAN_uc003uwl.3_Non-coding_Transcript|ZAN_uc010lhh.3_Non-coding_Transcript|ZAN_uc010lhi.3_Non-coding_Transcript|ZAN_uc011kkd.1_Missense_Mutation_p.S122L	NM_003386	NP_003377	Q9Y493	ZAN_HUMAN	Homo sapiens zonadhesin (ZAN), transcript variant 3, mRNA.	1545	VWFD 2.				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCACAGCCTCGGGTGACCCC	0.607													T	100364654	C	T	100364654	3	4	278	1	0	0	0	0	1	0	0	0	17615	893	31	1	4728	1	ZAN	7	100364654	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	6848066	100364654	58774009	20	19561											
REPIN1	29803	broad.mit.edu	37	chr7	150069247	150069247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcttccggcacaaacccaAcctgctgtctcacagcaaga	11	6	7	17	2	1	1	1	0	1	1	3	1	2	1	4	1	4	4	4	1	3	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr7:150069247A>G	uc022apt.1	-	0	787	c.419T>C	c.(418-420)gTt>gCt	p.V140A	REPIN1_uc003whd.2_Missense_Mutation_p.N295S|REPIN1_uc010lpq.1_Missense_Mutation_p.N306S|REPIN1_uc010lpr.1_Missense_Mutation_p.N363S|REPIN1_uc003whc.2_Missense_Mutation_p.N306S|REPIN1_uc003whe.2_Missense_Mutation_p.N306S			Q9BWE0	REPI1_HUMAN	Homo sapiens mRNA; cDNA DKFZp762K135 (from clone DKFZp762K135).	0					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACAAACCCAACCTGCTGTCT	0.672													G	150069247	A	G	150069247	3	3	278	1	0	0	0	0	1	0	0	0	13315	43	2	3	1094	3	REPIN1	7	150069247	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08	49704593	150069247	9069416	21	19562											
ATP6V1C1	528	broad.mit.edu	37	chr8	104064965	104064965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctttttcaaagggagtaActcagattgataatgacctg	12	15	8	6	0	3	3	2	2	1	1	3	4	3	4	1	1	1	1	1	1	3	6			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr8:104064965A>C	uc003ykz.4	+	5	633	c.388A>C	c.(388-390)Act>Cct	p.T130P	ATP6V1C1_uc010mbz.3_Missense_Mutation_p.T55P|ATP6V1C1_uc003yla.3_Missense_Mutation_p.T130P|ATP6V1C1_uc011lhl.2_Missense_Mutation_p.T55P	NM_001695	NP_001686	P21283	VATC1_HUMAN	Homo sapiens ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C1 (ATP6V1C1), mRNA.	130					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|urinary_tract(1)	13	Lung NSC(17;0.000427)|all_lung(17;0.000533)		OV - Ovarian serous cystadenocarcinoma(57;3.57e-05)|STAD - Stomach adenocarcinoma(118;0.133)			AAAGGGAGTAACTCAGATTGA	0.318													C	104064965	A	C	104064965	3	2	278	1	0	0	0	0	1	0	0	0	1185	43	2	5	406	5	ATP6V1C1	8	104064965	Missense_Mutation	SNP	A	TCGA-76-6662-01A-11D-1845-08		104064965	42299057	22	19563											
NAA35	60560	broad.mit.edu	37	chr9	88576949	88576950	+	Frame_Shift_Del	DEL	TC	TC	-																															taacgtggttagaaggccatTcactggcacagacagtattt																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:88576949_88576950delTC	uc004aoi.4	+	5	507_508	c.370_371delTC	c.(370-372)tcafs	p.S124fs	NAA35_uc004aoj.4_Frame_Shift_Del_p.S124fs|NAA35_uc004aok.1_Frame_Shift_Del_p.S124fs	NM_024635	NP_078911	Q5VZE5	NAA35_HUMAN	Homo sapiens N(alpha)-acetyltransferase 35, NatC auxiliary subunit (NAA35), mRNA.	124					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						AGAAGGCCATTCACTGGCACAG	0.366													-	88576950	TC	-	88576949	7	5	278	1	0	1	0	1	0	0	0	0	10199	1783	62	0	388	0	NAA35	9	88576949	Frame_Shift_Del	DEL	TC	TCGA-76-6662-01A-11D-1845-08		88576949	52636482	23	19564											
RXRA	6256	broad.mit.edu	37	chr9	137309042	137309042	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggcaaggaccggaacGagaatgaggtggagtcgacc	12	4	17	8	4	0	2	0	1	0	1	1	7	0	5	2	5	2	1	2	5	3	0			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr9:137309042G>T	uc004cfb.2	+	4	811	c.649G>T	c.(649-651)Gag>Tag	p.E217*	RXRA_uc004cfc.1_Nonsense_Mutation_p.E120*|RXRA_uc004cfd.1_5'UTR	NM_002957	NP_002948	P19793	RXRA_HUMAN	Homo sapiens retinoid X receptor, alpha (RXRA), mRNA.	217	Hinge.				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GGACCGGAACGAGAATGAGGT	0.677													T	137309042	G	T	137309042	4	4	278	1	0	0	0	0	0	1	0	0	13854	1059	37	4	667	4	RXRA	9	137309042	Nonsense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	48732093	137309042	3904389	24	19565											
PTEN	5728	broad.mit.edu	37	chr10	89717672	89717672	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaattcaggacccacaCgacgggaagacaagttcatg	13	6	9	13	2	2	1	2	0	0	1	3	4	3	3	3	2	0	1	3	2	3	2	rs121909219		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:89717672C>T	uc001kfb.3	+	6	1729	c.697C>T	c.(697-699)Cga>Tga	p.R233*	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	233	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R233*(163)|p.0?(37)|p.R233fs*10(9)|p.R55fs*1(5)|p.R233fs*23(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.R233fs*12(2)|p.R233fs*20(2)|p.R233fs*25(2)|p.R233R(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*13(1)|p.(T232)fs(1)|p.T232fs*24(1)|p.G165_K342del(1)|p.T232fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGGACCCACACGACGGGAAGA	0.423	R233*(HEC59_ENDOMETRIUM)|R233*(JHUEM1_ENDOMETRIUM)|R233*(NCIH1155_LUNG)|R233*(SF295_CENTRAL_NERVOUS_SYSTEM)|R233*(SW1783_CENTRAL_NERVOUS_SYSTEM)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717672	C	T	89717672	4	4	278	1	0	0	0	0	0	1	0	0	12823	528	19	1	723	1	PTEN	10	89717672	Nonsense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		89717672	45817075	25	19566											
KIF20B	9585	broad.mit.edu	37	chr10	91498052	91498052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagagagcgctttcagaaCttacacaaggtgttacttgc	13	10	10	8	1	1	2	1	0	0	2	1	4	1	2	0	1	5	2	0	1	5	4			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:91498052C>A	uc001kgs.1	+	19	3526	c.3454C>A	c.(3454-3456)Ctt>Att	p.L1152I	KIF20B_uc001kgr.1_Missense_Mutation_p.L1112I|KIF20B_uc001kgt.1_Missense_Mutation_p.L363I|KIF20B_uc009xtw.1_Non-coding_Transcript	NM_016195	NP_057279	Q96Q89	KI20B_HUMAN	Homo sapiens kinesin family member 20B (KIF20B), mRNA.	1152					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GCTTTCAGAACTTACACAAGG	0.343													A	91498052	C	A	91498052	3	1	278	1	0	0	0	0	1	0	0	0	8345	565	20	4	3408	4	KIF20B	10	91498052	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	1780380	91498052	44036695	26	19567											
WDR11	55717	broad.mit.edu	37	chr10	122649467	122649467	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcctggtaaaggaaaTcaaaaattaatagcaatgta	17	12	7	5	0	1	0	1	0	0	0	2	1	2	1	1	2	2	4	1	2	9	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr10:122649467T>C	uc021pzt.1	+	17	2535	c.2289T>C	c.(2287-2289)aaT>aaC	p.N763N	WDR11_uc010qte.2_Silent_p.N365N|WDR11_uc001lfd.1_Silent_p.N281N	NM_018117	NP_060587	Q9BZH6	WDR11_HUMAN	Homo sapiens WD repeat domain 11 (WDR11), mRNA.	763						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GTAAAGGAAATCAAAAATTAA	0.383													C	122649467	T	C	122649467	2	2	278	1	0	0	0	0	0	0	0	1	17375	1432	50	3		3	WDR11	10	122649467	Silent	SNP	T	TCGA-76-6662-01A-11D-1845-08	31151415	122649467	12885280	27	19568											
OR5D18	219438	broad.mit.edu	37	chr11	55587178	55587178	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagattacccagaactgCaagtcccactcttcctggtt	9	12	6	14	0	2	2	1	0	2	2	5	2	4	2	3	1	3	2	3	1	3	3			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:55587178C>G	uc010rin.2	+	0	73	c.73C>G	c.(73-75)Caa>Gaa	p.Q25E		NM_001001952	NP_001001952	Q8NGL1	OR5DI_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 18 (OR5D18), mRNA.	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CCCAGAACTGCAAGTCCCACT	0.448													G	55587178	C	G	55587178	3	3	278	1	0	0	0	0	1	0	0	0	11233	711	25	4	75	4	OR5D18	11	55587178	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		55587178	79419338	28	19569											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-																															aatcactggtggtggggtagCatcatcatcatcatcatcct																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:77069990_77069992delCAT	uc001oyh.4	-	5	1081_1083	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_uc010rso.2_In_Frame_Del_p.D85del|PAK1_uc001oyg.4_In_Frame_Del_p.D183del|PAK1_uc001oyi.1_In_Frame_Del_p.D183del|PAK1_uc010rsn.2_5'UTR	NM_002576	NP_002567	Q13153	PAK1_HUMAN	Homo sapiens p21 protein (Cdc42/Rac)-activated kinase 1 (PAK1), transcript variant 2, mRNA.	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													-	77069992	CAT	-	77069990	7	5	278	1	0	1	0	1	0	0	0	0	11475	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-76-6662-01A-11D-1845-08	21482812	77069990	57936526	29	19570											
MAML2	84441	broad.mit.edu	37	chr11	95825767	95825767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggctggggattttctcctgCccaaatggacctggtgatgg	6	11	15	9	0	1	1	0	1	1	0	2	3	1	3	3	6	1	1	3	6	1	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr11:95825767C>T	uc001pfw.1	-	1	2713	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_032427	NP_115803	Q8IZL2	MAML2_HUMAN	Homo sapiens mastermind-like 2 (Drosophila) (MAML2), mRNA.	476					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	p.G476V(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTTTCTCCTGCCCAAATGGAC	0.602			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								T	95825767	C	T	95825767	2	4	278	1	0	0	0	0	0	0	0	1	9281	726	26	2		2	MAML2	11	95825767	Silent	SNP	C	TCGA-76-6662-01A-11D-1845-08	18755777	95825767	39180749	30	19571											
RB1	5925	broad.mit.edu	37	chr13	48919241	48919244	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															ataaattctttaacttactaAaagaaattgataccagtacc																								rs121913296		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr13:48919241_48919244delAAAG	uc001vcb.3	+	3	572_575	c.406_409delAAAG	c.(406-411)aaagaafs	p.K136fs	RB1_uc010acs.1_Intron	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	136					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.E137*(4)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAACTTACTAAAAGAAATTGATAC	0.284		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48919244	AAAG	-	48919241	7	5	278	1	0	1	0	1	0	0	0	0	13186	15	1	0	420	0	RB1	13	48919241	Frame_Shift_Del	DEL	AAAG	TCGA-76-6662-01A-11D-1845-08		48919241	66250637	31	19572											
REM2	161253	broad.mit.edu	37	chr14	23353987	23353987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagacgaagaggcagtatgCctgtcccctacaagcaccag	12	5	10	14	1	0	2	0	0	0	2	1	3	1	2	5	1	3	3	5	1	4	2			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr14:23353987C>T	uc001whf.1	+	1	273	c.208C>T	c.(208-210)Cct>Tct	p.P70S	REM2_uc010tnd.1_Missense_Mutation_p.P62S	NM_173527	NP_775798	Q8IYK8	REM2_HUMAN	Homo sapiens RAS (RAD and GEM)-like GTP binding 2 (REM2), mRNA.	70					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGGCAGTATGCCTGTCCCCTA	0.607													T	23353987	C	T	23353987	3	4	278	1	0	0	0	0	1	0	0	0	13311	739	26	2	214	2	REM2	14	23353987	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		23353987	83995553	32	19573											
FMN1	342184	broad.mit.edu	37	chr15	33261062	33261062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgcaagtcctgggggtGgtggagcaggaggaggccct	6	6	22	7	0	0	0	0	0	0	0	1	3	1	3	2	9	2	2	2	9	1	0			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:33261062G>A	uc001zhf.4	-	3	2171	c.2171C>T	c.(2170-2172)cCa>cTa	p.P724L	SNORD77_uc021sip.1_5'Flank	NM_001103184	NP_001096654	Q68DA7	FMN1_HUMAN	Homo sapiens formin 1 (FMN1), mRNA.	947	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTGGGGGTGGTGGAGCAGG	0.627													A	33261062	G	A	33261062	3	1	278	1	0	0	0	0	1	0	0	0	5998	1348	47	2	1475	2	FMN1	15	33261062	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08		33261062	69270330	33	19574											
PLCB2	5330	broad.mit.edu	37	chr15	40590478	40590478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgataatgggctcctcGtcagggggtttccccttcca	5	12	13	11	1	1	1	1	1	0	0	5	1	4	1	4	4	0	2	4	4	1	3			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:40590478G>A	uc001zld.3	-	10	1402	c.1101C>T	c.(1099-1101)gaC>gaT	p.D367D	PLCB2_uc010bbo.3_Silent_p.D367D|PLCB2_uc010ucm.2_Silent_p.D367D	NM_004573	NP_004564	Q00722	PLCB2_HUMAN	Homo sapiens phospholipase C, beta 2 (PLCB2), mRNA.	367	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		TGGGCTCCTCGTCAGGGGGTT	0.602													A	40590478	G	A	40590478	2	1	278	1	0	0	0	0	0	0	0	1	12105	1136	40	1		1	PLCB2	15	40590478	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	7329416	40590478	61940914	34	19575											
IGF1R	3480	broad.mit.edu	37	chr15	99456497	99456497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgagatcttgtacattcGcaccaatgcttcaggtatcc	10	12	9	10	1	2	1	1	1	1	1	4	3	3	1	2	1	2	4	2	1	3	5	rs45553041		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr15:99456497G>T	uc002bul.3	+	7	1864	c.1814G>T	c.(1813-1815)cGc>cTc	p.R605L	IGF1R_uc010urq.2_Missense_Mutation_p.R605L|IGF1R_uc010bon.3_Missense_Mutation_p.R605L|IGF1R_uc010urr.1_Missense_Mutation_p.R55L	NM_000875	NP_000866	P08069	IGF1R_HUMAN	Homo sapiens insulin-like growth factor 1 receptor (IGF1R), mRNA.	605	Fibronectin type-III 1.		R -> H (in dbSNP:rs45553041).		anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TTGTACATTCGCACCAATGCT	0.532													T	99456497	G	T	99456497	3	4	278	1	0	0	0	0	1	0	0	0	7629	1087	38	4	1844	4	IGF1R	15	99456497	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	58866019	99456497	3074895	35	19576											
TP53	7157	broad.mit.edu	37	chr17	7578518	7578518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcacagggcaggtcttggCcagttggcaaaacatcttgt	9	10	12	10	0	2	0	0	0	2	0	2	0	2	0	1	4	2	4	1	4	2	3	rs28934875		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:7578518C>T	uc002gim.2	-	4	606	c.412G>A	c.(412-414)Gcc>Acc	p.A138T	TP53_uc002gig.1_Missense_Mutation_p.A138T|TP53_uc002gih.3_Missense_Mutation_p.A138T|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.A6T|TP53_uc010cnf.1_Missense_Mutation_p.A6T|TP53_uc002gii.1_Missense_Mutation_p.A6T|TP53_uc010cni.1_Missense_Mutation_p.A138T|TP53_uc010cnh.1_Missense_Mutation_p.A138T|TP53_uc002gij.2_Missense_Mutation_p.A138T|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.A45T|TP53_uc002gio.2_Missense_Mutation_p.A6T|TP53_uc010vug.2_Missense_Mutation_p.A99T	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	138	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934875).|A -> S (in LFS; germline mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A138P(30)|p.A138V(19)|p.A138fs*32(10)|p.A138T(10)|p.0?(8)|p.L137L(6)|p.A138_P142delAKTCP(6)|p.A138fs*11(6)|p.L137P(3)|p.C135fs*9(3)|p.A138fs*31(2)|p.L137_W146del10(2)|p.F134_T140>S(2)|p.L137M(2)|p.K132_A138delKMFCQLA(2)|p.A138_V143delAKTCPV(2)|p.A138del(2)|p.N131fs*27(2)|p.C135_A138delCQLA(2)|p.Q136_K139delQLAK(2)|p.L137Q(2)|p.C135_T140delCQLAKT(2)|p.A138S(2)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.L137fs*12(1)|p.L137fs*33(1)|p.V73fs*9(1)|p.L137_A138insX(1)|p.L137V(1)|p.C3fs*9(1)|p.A6_P10delAKTCP(1)|p.A6P(1)|p.C42fs*9(1)|p.A138A(1)|p.A45P(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)		CAGGTCTTGGCCAGTTGGCAA	0.567		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)			T	7578518	C	T	7578518	3	4	278	1	0	0	0	0	1	0	0	0	16482	739	26	2	886	2	TP53	17	7578518	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		7578518	73616692	36	19577											
ABI3	51225	broad.mit.edu	37	chr17	47297534	47297534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctctctggtgttcagcagCgccgaaggtgtcggtggggc	4	9	18	10	3	2	0	1	0	1	0	4	1	2	0	1	6	2	3	1	6	1	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:47297534C>T	uc002iop.1	+	5	1146	c.648C>T	c.(646-648)agC>agT	p.S216S	ABI3_uc002ioq.1_Silent_p.S210S	NM_016428	NP_057512	Q9P2A4	ABI3_HUMAN	Homo sapiens ABI family, member 3 (ABI3), transcript variant 1, mRNA.	216					cellular component movement|regulation of cell migration	cytoplasm|lamellipodium	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	12			Epithelial(5;6.37e-06)|all cancers(6;6.36e-05)			TGTTCAGCAGCGCCGAAGGTG	0.692										HNSCC(55;0.14)			T	47297534	C	T	47297534	2	4	278	1	0	0	0	0	0	0	0	1	90	767	27	1		1	ABI3	17	47297534	Silent	SNP	C	TCGA-76-6662-01A-11D-1845-08	39719016	47297534	33897676	37	19578											
DNAH17	8632	broad.mit.edu	37	chr17	76459049	76459049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgctccagaaaggttttGggtgtggtgtagttgtagcg	7	14	15	5	1	1	1	0	0	1	1	2	1	2	1	1	3	2	5	1	3	3	5			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:76459049G>A	uc010dhp.2	-	56	9176	c.9051C>T	c.(9049-9051)ccC>ccT	p.P3017P	DNAH17_uc002jvs.3_Non-coding_Transcript	NM_173628	NP_775899			Homo sapiens dynein, axonemal, heavy chain 17 (DNAH17), mRNA.											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GAAAGGTTTTGGGTGTGGTGT	0.522													A	76459049	G	A	76459049	2	1	278	1	0	0	0	0	0	0	0	1	4640	1335	47	2		2	DNAH17	17	76459049	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	29161515	76459049	4736161	38	19579											
TBCD	6904	broad.mit.edu	37	chr17	80858560	80858560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttcctgagtacacgcaGccaatgatagaccacctggt	10	9	10	12	1	0	3	0	2	0	1	1	3	1	3	4	2	2	3	4	2	3	3			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr17:80858560G>A	uc002kfy.1	+	17	1813	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	TBCD_uc002kfx.1_Silent_p.Q544Q|TBCD_uc002kfz.3_Silent_p.Q561Q|TBCD_uc002kgb.1_5'UTR	NM_005993	NP_005984	Q9BTW9	TBCD_HUMAN	Homo sapiens tubulin folding cofactor D (TBCD), mRNA.	561					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGTACACGCAGCCAATGATAG	0.493													A	80858560	G	A	80858560	2	1	278	1	0	0	0	0	0	0	0	1	15733	962	34	2		2	TBCD	17	80858560	Silent	SNP	G	TCGA-76-6662-01A-11D-1845-08	4399511	80858560	336650	39	19580											
ICAM1	3383	broad.mit.edu	37	chr19	10395175	10395175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctagagccaaggtgaCgctgaatggggttccagccc	9	6	12	14	1	0	3	0	2	0	1	1	3	1	3	5	3	2	2	5	3	3	2	rs141326678		TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:10395175C>T	uc002mnq.2	+	4	1341	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	ICAM1_uc010xle.1_Missense_Mutation_p.T119M|ICAM4_uc002mnr.2_5'Flank|ICAM4_uc002mns.2_5'Flank|ICAM4_uc002mnt.2_5'Flank	NM_000201	NP_000192	P05362	ICAM1_HUMAN	Homo sapiens intercellular adhesion molecule 1 (ICAM1), mRNA.	341	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	GCCAAGGTGACGCTGAATGGG	0.642													T	10395175	C	T	10395175	3	4	278	1	0	0	0	0	1	0	0	0	7537	536	19	1	1040	1	ICAM1	19	10395175	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		10395175	48733808	40	19581											
SCN1B	6324	broad.mit.edu	37	chr19	35523525	35523525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcatctcctgcaagcGccgcagcgagaccaacgctg	8	8	10	15	4	2	1	0	0	2	1	3	2	2	1	3	0	5	4	3	0	2	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:35523525G>A	uc002nxo.2	+	1	267	c.134G>A	c.(133-135)cGc>cAc	p.R45H	SCN1B_uc002nxp.3_Missense_Mutation_p.R45H|SCN1B_uc010xsg.2_Missense_Mutation_p.R45H	NM_199037	NP_950238	Q07699	SCN1B_HUMAN	Homo sapiens sodium channel, voltage-gated, type I, beta (SCN1B), transcript variant b, mRNA.	45	Ig-like C2-type.				axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity	p.R45C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCCTGCAAGCGCCGCAGCGAG	0.622													A	35523525	G	A	35523525	3	1	278	1	0	0	0	0	1	0	0	0	14008	1087	38	1	140	1	SCN1B	19	35523525	Missense_Mutation	SNP	G	TCGA-76-6662-01A-11D-1845-08	25128350	35523525	23605458	41	19582											
SPTBN4	57731	broad.mit.edu	37	chr19	41063199	41063199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacagattgaggagaagCggaggcggctgccccgcctg	9	4	18	10	3	0	3	0	1	0	2	0	6	0	5	3	5	2	1	3	5	1	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:41063199C>T	uc002ony.3	+	25	5646	c.5560C>T	c.(5560-5562)Cgg>Tgg	p.R1854W	SPTBN4_uc002onx.3_Missense_Mutation_p.R1854W|SPTBN4_uc002onz.3_Missense_Mutation_p.R1854W|SPTBN4_uc010egx.3_Missense_Mutation_p.R597W|SPTBN4_uc002ooa.3_Missense_Mutation_p.R530W	NM_020971	NP_066022	Q9H254	SPTN4_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 4 (SPTBN4), transcript variant sigma1, mRNA.	1854					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGAGGAGAAGCGGAGGCGGCT	0.647													T	41063199	C	T	41063199	3	4	278	1	0	0	0	0	1	0	0	0	15217	759	27	1	5658	1	SPTBN4	19	41063199	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	5539674	41063199	18065784	42	19583											
KLK6	5653	broad.mit.edu	37	chr19	51466671	51466671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctgggcgtgccaggCgcaacagcatgatgtcctgg	6	9	16	10	2	0	1	0	1	0	0	1	1	1	1	2	4	3	4	2	4	1	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:51466671C>T	uc002puh.3	-	2	424	c.359G>A	c.(358-360)cGc>cAc	p.R120H	KLK6_uc010eoj.3_Intron|KLK6_uc002pui.3_Missense_Mutation_p.R111H|KLK6_uc002puj.3_Missense_Mutation_p.R4H|KLK6_uc010ycn.2_Missense_Mutation_p.R4H|KLK6_uc002pul.3_Missense_Mutation_p.R111H|KLK6_uc002pum.3_Missense_Mutation_p.R4H	NM_001012965	NP_001012983	Q92876	KLK6_HUMAN	Homo sapiens kallikrein-related peptidase 6 (KLK6), transcript variant C, mRNA.	111	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		GCGTGCCAGGCGCAACAGCAT	0.617													T	51466671	C	T	51466671	3	4	278	1	0	0	0	0	1	0	0	0	8466	768	27	1	414	1	KLK6	19	51466671	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	10403472	51466671	7662312	43	19584											
LILRA5	353514	broad.mit.edu	37	chr19	54822924	54822924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccacactggagggtcaCgttctctcctgaggtcacca	8	9	11	13	1	3	2	2	2	1	0	5	3	4	3	3	3	1	1	3	3	0	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr19:54822924C>T	uc002qfe.3	-	4	592	c.472G>A	c.(472-474)Gtg>Atg	p.V158M	LILRA5_uc002qff.3_Missense_Mutation_p.V146M|LILRA5_uc010yev.2_Missense_Mutation_p.V158M|LILRA5_uc010yew.2_Missense_Mutation_p.V146M|LILRA5_uc002qfg.1_Missense_Mutation_p.V158M|LILRA5_uc002qfh.1_Missense_Mutation_p.V146M	NM_021250	NP_067073	A6NI73	LIRA5_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 5 (LILRA5), transcript variant 1, mRNA.	158	Ig-like C2-type 2.				innate immune response	extracellular region|integral to membrane	receptor activity	p.N157D(1)|p.N157N(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGAGGGTCACGTTCTCTCCT	0.572													T	54822924	C	T	54822924	3	4	278	1	0	0	0	0	1	0	0	0	8848	536	19	1	525	1	LILRA5	19	54822924	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08	3356253	54822924	4306059	44	19585											
SIRPB1	10326	broad.mit.edu	37	chr20	1552398	1552398	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaagttggcagtcccaCgaagagggtccccctgcaag	11	5	12	13	1	0	2	0	0	0	2	2	3	2	2	3	2	1	3	3	2	3	1			TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chr20:1552398C>T	uc010gai.3	-	2	818	c.719G>A	c.(718-720)cGt>cAt	p.R240H	SIRPB1_uc002wfk.4_Intron	NM_006065	NP_006056	O00241	SIRB1_HUMAN	Homo sapiens signal-regulatory protein beta 1 (SIRPB1), transcript variant 1, mRNA.	240	Ig-like C1-type 1.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding	p.R240C(1)		central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCAGTCCCACGAAGAGGGTC	0.622													T	1552398	C	T	1552398	3	4	278	1	0	0	0	0	1	0	0	0	14427	536	19	1	489	1	SIRPB1	20	1552398	Missense_Mutation	SNP	C	TCGA-76-6662-01A-11D-1845-08		1552398	61473122	45	19586											
KDM6A	7403	broad.mit.edu	37	chrX	44923045	44923048	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															aggagccgtggaaaaaccaaCtatctaactccactcaggta																										TCGA-76-6662-01A-11D-1845-08	TCGA-76-6662-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7f7c80ca-6ad9-4820-83ca-5248b3873eea	9e61f6fe-57d8-413b-a988-a3a283e6a3a7	g.chrX:44923045_44923048delCTAT	uc011mkz.2	+	16	2437_2440	c.2062_2065delCTAT	c.(2062-2067)ctatctfs	p.L688fs	KDM6A_uc022bvi.1_Frame_Shift_Del_p.L306fs|KDM6A_uc010nhk.2_Frame_Shift_Del_p.L602fs|KDM6A_uc004dge.4_Frame_Shift_Del_p.L636fs|KDM6A_uc011mla.2_Frame_Shift_Del_p.L591fs|KDM6A_uc011mlb.2_Frame_Shift_Del_p.L643fs|KDM6A_uc011mlc.2_Frame_Shift_Del_p.L340fs|KDM6A_uc022bvj.1_Frame_Shift_Del_p.L557fs|KDM6A_uc022bvk.1_Non-coding_Transcript|KDM6A_uc011mld.2_Frame_Shift_Del_p.L275fs	NM_021140	NP_066963	O15550	KDM6A_HUMAN	Homo sapiens lysine (K)-specific demethylase 6A (KDM6A), mRNA.	636					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						GAAAAACCAACTATCTAACTCCAC	0.446			"D, N, F, S"		"renal, oesophageal SCC, MM"								-	44923048	CTAT	-	44923045	7	5	278	1	0	1	0	1	0	0	0	0	8195	564	20	0	1968	0	KDM6A	23	44923045	Frame_Shift_Del	DEL	CTAT	TCGA-76-6662-01A-11D-1845-08		44923045	110347515	46	19587											
RPS6KA1	6195	broad.mit.edu	37	chr1	26883501	26883501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgcagaagctataccgtCgtgagatcaagccacccttc	10	9	9	13	2	1	2	1	1	0	2	3	3	1	2	3	0	4	2	3	0	4	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:26883501C>T	uc001bmr.1	+	12	1157	c.994C>T	c.(994-996)Cgt>Tgt	p.R332C	RPS6KA1_uc010ofe.1_Missense_Mutation_p.R240C|RPS6KA1_uc010off.1_Missense_Mutation_p.R316C|RPS6KA1_uc001bms.1_Missense_Mutation_p.R341C|RPS6KA1_uc009vsl.1_Missense_Mutation_p.R175C	NM_002953	NP_002944	Q15418	KS6A1_HUMAN	Homo sapiens ribosomal protein S6 kinase, 90kDa, polypeptide 1 (RPS6KA1), transcript variant 1, mRNA.	332	AGC-kinase C-terminal.				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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GCTATACCGTCGTGAGATCAA	0.597													T	26883501	C	T	26883501	3	4	279	1	0	0	0	0	1	0	0	0	13741	884	31	1	1183	1	RPS6KA1	1	26883501	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		26883501	222367120	1	19588											
SFPQ	6421	broad.mit.edu	37	chr1	35656550	35656550	+	Frame_Shift_Del	DEL	G	G	-																															gctgtctacctctcatgggtGtatcatccagttcggctttg																										TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:35656550delG	uc001bys.3	-	2	1157	c.1064delC	c.(1063-1065)acafs	p.T355fs		NM_005066	NP_005057	P23246	SFPQ_HUMAN	Homo sapiens splicing factor proline/glutamine-rich (SFPQ), mRNA.	355	RRM 1.				alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				TCTCATGGGTGTATCATCCAG	0.438			T	TFE3	papillary renal cell								-	35656550	G	-	35656550	7	5	279	1	0	1	0	1	0	0	0	0	14253	1377	48	0	1091	0	SFPQ	1	35656550	Frame_Shift_Del	DEL	G	TCGA-76-6663-01A-11D-1845-08	8773049	35656550	213594071	2	19589											
CLDN19	149461	broad.mit.edu	37	chr1	43201615	43201615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgggtctctctggctccGggcatgtgcagcagaggaag	6	10	16	9	1	2	1	0	0	2	1	4	2	3	2	1	4	2	5	1	4	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:43201615G>A	uc001cht.1	-	3	751	c.560C>T	c.(559-561)cCg>cTg	p.P187L	CLDN19_uc001chu.2_Missense_Mutation_p.P187L|CLDN19_uc010ojv.1_Missense_Mutation_p.R159W	NM_148960	NP_683763	Q8N6F1	CLD19_HUMAN	Homo sapiens claudin 19 (CLDN19), transcript variant 1, mRNA.	187					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTCTGGCTCCGGGCATGTGCA	0.677													A	43201615	G	A	43201615	3	1	279	1	0	0	0	0	1	0	0	0	3511	1116	39	1	238	1	CLDN19	1	43201615	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	7545065	43201615	206049006	3	19590											
CLCA1	1179	broad.mit.edu	37	chr1	86952277	86952277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagacagttgagctgggGtcctgggttgggatggtgac	6	10	18	7	0	0	3	0	2	0	1	1	4	1	4	1	5	2	4	1	5	0	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:86952277G>A	uc001dlt.3	+	6	1283	c.1023G>A	c.(1021-1023)ggG>ggA	p.G341G	CLCA1_uc001dls.1_Silent_p.G280G	NM_001285	NP_001276	A8K7I4	CLCA1_HUMAN	Homo sapiens chloride channel accessory 1 (CLCA1), mRNA.	341	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		TTGAGCTGGGGTCCTGGGTTG	0.478													A	86952277	G	A	86952277	2	1	279	1	0	0	0	0	0	0	0	1	3488	1248	44	2		2	CLCA1	1	86952277	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	43750662	86952277	162298344	4	19591											
CLCA4	22802	broad.mit.edu	37	chr1	87045055	87045055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaattgaagcaaaccCgccaagacctgaaattgatg	16	6	11	8	1	0	4	0	3	0	1	0	5	0	5	3	2	2	1	3	2	5	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:87045055C>T	uc009wcs.3	+	12	2185	c.2141C>T	c.(2140-2142)cCg>cTg	p.P714L	CLCA4_uc009wct.3_Missense_Mutation_p.P477L|CLCA4_uc009wcu.3_Missense_Mutation_p.P534L	NM_012128	NP_036260	Q14CN2	CLCA4_HUMAN	Homo sapiens chloride channel accessory 4 (CLCA4), transcript variant 1, mRNA.	714						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		GAAGCAAACCCGCCAAGACCT	0.428													T	87045055	C	T	87045055	3	4	279	1	0	0	0	0	1	0	0	0	3490	652	23	1	2191	1	CLCA4	1	87045055	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	92778	87045055	162205566	5	19592											
SPTA1	6708	broad.mit.edu	37	chr1	158651339	158651339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccaatccactctaagAtgtcagcacactcctgtaca	11	11	5	14	0	3	1	1	0	2	1	6	1	5	1	3	0	2	2	3	0	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:158651339A>G	uc001fst.1	-	3	708	c.509T>C	c.(508-510)aTc>aCc	p.I170T		NM_003126	NP_003117	P02549	SPTA1_HUMAN	Homo sapiens spectrin, alpha, erythrocytic 1 (elliptocytosis 2) (SPTA1), mRNA.	170					actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCACTCTAAGATGTCAGCACA	0.537													G	158651339	A	G	158651339	3	3	279	1	0	0	0	0	1	0	0	0	15212	333	12	3	6946	3	SPTA1	1	158651339	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	71606284	158651339	90599282	6	19593											
PTPN14	5784	broad.mit.edu	37	chr1	214575057	214575057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatttcctgtccaaatcCatccaaacgttcaacttcat	13	12	4	12	1	2	1	2	0	0	1	6	2	6	1	4	0	2	1	4	0	4	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:214575057C>T	uc001hkk.2	-	6	1293	c.640G>A	c.(640-642)Gga>Aga	p.G214R	PTPN14_uc021piy.1_Intron|PTPN14_uc010pty.2_Missense_Mutation_p.G115R	NM_005401	NP_005392	Q15678	PTN14_HUMAN	Homo sapiens protein tyrosine phosphatase, non-receptor type 14 (PTPN14), mRNA.	214	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGTCCAAATCCATCCAAACGT	0.423													T	214575057	C	T	214575057	3	4	279	1	0	0	0	0	1	0	0	0	12869	603	21	2	2975	2	PTPN14	1	214575057	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	55923718	214575057	34675564	7	19594											
SIPA1L2	57568	broad.mit.edu	37	chr1	232619633	232619633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaagctggtcccgccGtctcattgttatacatctct	8	14	6	13	2	3	0	2	0	2	0	6	0	4	0	2	1	2	2	2	1	4	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:232619633G>A	uc001hvg.3	-	3	2044	c.1886C>T	c.(1885-1887)aCg>aTg	p.T629M		NM_020808	NP_065859	Q9P2F8	SI1L2_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 2 (SIPA1L2), mRNA.	629	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.T629M(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGGTCCCGCCGTCTCATTGTT	0.448													A	232619633	G	A	232619633	3	1	279	1	0	0	0	0	1	0	0	0	14424	1145	40	1	3354	1	SIPA1L2	1	232619633	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	18044576	232619633	16630988	8	19595											
OR2M2	391194	broad.mit.edu	37	chr1	248344248	248344248	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacctcataaactttatgttTtgctgtttgctaaattcttc	9	20	4	8	0	2	0	1	0	1	0	3	0	2	0	1	0	4	4	1	0	6	10			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr1:248344248T>A	uc010pzf.2	+	0	961	c.961T>A	c.(961-963)Ttg>Atg	p.L321M		NM_001004688	NP_001004688	Q96R28	OR2M2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily M, member 2 (OR2M2), mRNA.	321					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACTTTATGTTTTGCTGTTTGC	0.373													A	248344248	T	A	248344248	3	1	279	1	0	0	0	0	1	0	0	0	11086	1838	64	5	963	5	OR2M2	1	248344248	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	15724615	248344248	906373	9	19596											
PXDN	7837	broad.mit.edu	37	chr2	1652977	1652977	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggggggatcatgacagAgaagcagggggggtcgttgc	9	7	20	5	1	1	2	1	1	0	1	2	4	1	3	0	6	2	2	0	6	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:1652977A>C	uc002qxa.3	-	16	2639	c.2575T>G	c.(2575-2577)Tct>Gct	p.S859A		NM_012293	NP_036425	Q92626	PXDN_HUMAN	Homo sapiens peroxidasin homolog (Drosophila) (PXDN), mRNA.	859					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		ATCATGACAGAGAAGCAGGGG	0.667													C	1652977	A	C	1652977	3	2	279	1	0	0	0	0	1	0	0	0	12935	304	11	5	1892	5	PXDN	2	1652977	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08		1652977	241546396	10	19597											
TTN	7273	broad.mit.edu	37	chr2	179496982	179496982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcgaatgagttttcccttCgtcttgcattgagaccgacc	8	13	9	11	3	1	2	0	2	1	1	4	6	2	2	3	0	1	2	3	0	1	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179496982C>T	uc021vsy.1	-	184	36160	c.35935G>A	c.(35935-35937)Gaa>Aaa	p.E11979K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Missense_Mutation_p.E5674K|TTN_uc021vta.1_Missense_Mutation_p.E5607K|TTN_uc021vtb.1_Missense_Mutation_p.E5482K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12906	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTTCCCTTCGTCTTGCATT	0.433													T	179496982	C	T	179496982	3	4	279	1	0	0	0	0	1	0	0	0	16837	893	31	1	64562	1	TTN	2	179496982	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	177844005	179496982	63702391	11	19598											
TTN	7273	broad.mit.edu	37	chr2	179497281	179497281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagtttgccacttgtgtgCttatcttcagcttcaaacat	9	16	6	10	0	4	0	3	0	1	0	4	0	4	0	1	0	4	3	1	0	2	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179497281C>T	uc021vsy.1	-	183	35973	c.35748G>A	c.(35746-35748)aaG>aaA	p.K11916K	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.K5611K|TTN_uc021vta.1_Silent_p.K5544K|TTN_uc021vtb.1_Silent_p.K5419K	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12843	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTGTGTGCTTATCTTCAG	0.328													T	179497281	C	T	179497281	2	4	279	1	0	0	0	0	0	0	0	1	16837	796	28	2		2	TTN	2	179497281	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	299	179497281	63702092	12	19599											
TTN	7273	broad.mit.edu	37	chr2	179647563	179647563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatagcaggatgtgctgaCggttccagcctcatttacag	10	10	11	10	1	1	2	1	1	0	1	2	3	2	3	2	2	4	3	2	2	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:179647563C>T	uc021vsy.1	-	17	3295	c.3070G>A	c.(3070-3072)Gtc>Atc	p.V1024I	TTN_uc021vsz.1_Missense_Mutation_p.V978I|TTN_uc021vta.1_Missense_Mutation_p.V978I|TTN_uc021vtb.1_Missense_Mutation_p.V978I|TTN_uc002unb.2_Missense_Mutation_p.V1024I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	1024	Ig-like 3.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGTGCTGACGGTTCCAGCC	0.498													T	179647563	C	T	179647563	3	4	279	1	0	0	0	0	1	0	0	0	16837	536	19	1	108298	1	TTN	2	179647563	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	150282	179647563	63551810	13	19600											
MYO1B	4430	broad.mit.edu	37	chr2	192278803	192278803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattccaaggggcttaccTggaaatcaacaagaacccca	15	6	7	13	0	1	1	1	0	0	1	2	2	2	2	5	3	3	1	5	3	6	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr2:192278803T>C	uc010fsg.2	+	27	3158	c.2903T>C	c.(2902-2904)cTg>cCg	p.L968P	MYO1B_uc002usq.2_Missense_Mutation_p.L910P|MYO1B_uc002usr.2_Missense_Mutation_p.L968P|MYO1B_uc002usu.2_Missense_Mutation_p.L213P	NM_001130158	NP_001155291	O43795	MYO1B_HUMAN	Homo sapiens myosin IB (MYO1B), transcript variant 1, mRNA.	968						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GGGGCTTACCTGGAAATCAAC	0.373													C	192278803	T	C	192278803	3	2	279	1	0	0	0	0	1	0	0	0	10145	1580	55	3	3009	3	MYO1B	2	192278803	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	12631240	192278803	50920570	14	19601											
QARS	5859	broad.mit.edu	37	chr3	49136953	49136953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacctaccgcacagcacCagttgctacaagctggagga	11	5	10	15	2	0	0	0	0	0	0	0	2	0	2	4	2	5	6	4	2	3	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:49136953C>A	uc003cvx.3	-	15	1521	c.1516G>T	c.(1516-1518)Ggt>Tgt	p.G506C	QARS_uc011bcc.2_5'Flank|QARS_uc011bcd.2_Missense_Mutation_p.G361C|QARS_uc003cvy.3_Missense_Mutation_p.G361C|QARS_uc011bce.2_Missense_Mutation_p.G495C	NM_005051	NP_005042	P47897	SYQ_HUMAN	Homo sapiens glutaminyl-tRNA synthetase (QARS), mRNA.	506					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	CGCACAGCACCAGTTGCTACA	0.527													A	49136953	C	A	49136953	3	1	279	1	0	0	0	0	1	0	0	0	12959	594	21	4	847	4	QARS	3	49136953	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		49136953	148885477	15	19602											
EPHA6	285220	broad.mit.edu	37	chr3	96945145	96945145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataaagcttttgctgggaaCacaaaatgttctaaatgtcc	14	13	7	7	0	1	0	0	0	1	0	2	1	2	1	1	1	3	3	1	1	8	6			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr3:96945145C>A	uc010how.1	+	3	1195	c.1152C>A	c.(1150-1152)aaC>aaA	p.N384K	EPHA6_uc003drp.1_Missense_Mutation_p.N384K	NM_001080448	NP_001073917	Q9UF33	EPHA6_HUMAN	Homo sapiens EPH receptor A6 (EPHA6), transcript variant 1, mRNA.	289	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TTGCTGGGAACACAAAATGTT	0.358													A	96945145	C	A	96945145	3	1	279	1	0	0	0	0	1	0	0	0	5212	477	17	4	1166	4	EPHA6	3	96945145	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	47808192	96945145	101077285	16	19603											
HCN1	348980	broad.mit.edu	37	chr5	45262329	45262329	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatggggcagcgagggctgCgaggcggagagtggcctgac	7	5	20	9	3	1	2	1	1	0	1	1	5	1	2	1	6	2	2	1	6	0	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:45262329C>T	uc003jok.3	-	7	2392	c.2367G>A	c.(2365-2367)tcG>tcA	p.S789S		NM_021072	NP_066550	O60741	HCN1_HUMAN	Homo sapiens hyperpolarization activated cyclic nucleotide-gated potassium channel 1 (HCN1), mRNA.	789				S -> W (in Ref. 2; AAC39759).		integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.S789L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GCGAGGGCTGCGAGGCGGAGA	0.627													T	45262329	C	T	45262329	2	4	279	1	0	0	0	0	0	0	0	1	7051	755	27	1		1	HCN1	5	45262329	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		45262329	135652931	17	19604											
GPR98	84059	broad.mit.edu	37	chr5	89986756	89986756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggacagcttgctactggCgacctgcgagttgtctcagg	8	10	13	10	2	1	0	1	0	1	0	2	3	1	1	1	3	4	3	1	3	2	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:89986756C>T	uc003kju.3	+	30	6945	c.6849C>T	c.(6847-6849)ggC>ggT	p.G2283G	GPR98_uc003kjt.3_Missense_Mutation_p.A17V|GPR98_uc003kjv.3_5'Flank	NM_032119	NP_115495	Q8WXG9	GPR98_HUMAN	Homo sapiens G protein-coupled receptor 98 (GPR98), transcript variant 1, mRNA.	2283	Calx-beta 16.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTGCTACTGGCGACCTGCGAG	0.493													T	89986756	C	T	89986756	2	4	279	1	0	0	0	0	0	0	0	1	6776	755	27	1		1	GPR98	5	89986756	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	44724427	89986756	90928504	18	19605											
PCDHAC2	56138	broad.mit.edu	37	chr5	140249736	140249736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgataactctcctgaagtcGccgtgacttccttgtccctc	7	12	7	15	3	1	2	0	2	1	0	6	3	3	2	4	0	1	0	4	0	2	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140249736G>A	uc003lia.2	+	0	1906	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	PCDHAC2_uc003lha.2_Intron|PCDHAC2_uc003lhb.2_Intron|PCDHAC2_uc003lhd.2_Intron|PCDHAC2_uc003lhf.2_Intron|PCDHAC2_uc003lhh.1_Intron|PCDHAC2_uc003lhi.2_Intron|PCDHAC2_uc003lhl.2_Intron|PCDHAC2_uc003lhk.1_Intron|PCDHAC2_uc003lho.2_Intron|PCDHAC2_uc003lhn.2_Intron|PCDHAC2_uc003lhq.2_Intron|PCDHAC2_uc003lhs.2_Intron|PCDHAC2_uc003lhu.2_Intron|PCDHAC2_uc003lhw.2_Intron|PCDHAC2_uc003lhx.2_Intron|PCDHAC2_uc011dae.2_Missense_Mutation_p.A350T	NM_018902	NP_061725	Q9Y5I4	PCDC2_HUMAN	Homo sapiens protocadherin alpha 11 (PCDHA11), transcript variant 1, mRNA.	366	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	p.A350T(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGAAGTCGCCGTGACTTC	0.547													A	140249736	G	A	140249736	3	1	279	1	0	0	0	0	1	0	0	0	11609	1087	38	1		1	PCDHAC2	5	140249736	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	50262980	140249736	40665524	19	19606											
PCDHB4	56131	broad.mit.edu	37	chr5	140503426	140503426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagcctgggctgttcggcGtgtgggcgcacaatggcgag	5	7	19	10	5	0	0	0	0	0	0	1	2	0	1	1	5	1	3	1	5	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:140503426G>A	uc003lip.1	+	0	1846	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M		NM_018938	NP_061761	Q9Y5E5	PCDB4_HUMAN	Homo sapiens protocadherin beta 4 (PCDHB4), mRNA.	616	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCTGTTCGGCGTGTGGGCGCA	0.677													A	140503426	G	A	140503426	3	1	279	1	0	0	0	0	1	0	0	0	11620	1145	40	1	1848	1	PCDHB4	5	140503426	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	253690	140503426	40411834	20	19607											
PDGFRB	5159	broad.mit.edu	37	chr5	149504343	149504343	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaatggctcaggccaTgagccgtggcctccaccacc	8	6	11	16	1	1	2	1	2	0	1	2	3	2	2	7	3	1	1	7	3	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:149504343T>A	uc003lro.3	-	12	2328	c.1859A>T	c.(1858-1860)cAt>cTt	p.H620L	PDGFRB_uc010jhd.3_Missense_Mutation_p.H459L	NM_002609	NP_002600	P09619	PGFRB_HUMAN	Homo sapiens platelet-derived growth factor receptor, beta polypeptide (PDGFRB), mRNA.	620	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GCTCAGGCCATGAGCCGTGGC	0.597			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149504343	T	A	149504343	3	1	279	1	0	0	0	0	1	0	0	0	11738	1464	51	5	1505	5	PDGFRB	5	149504343	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	9000917	149504343	31410917	21	19608											
MSX2	4488	broad.mit.edu	37	chr5	174152030	174152030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggaacccggccgatattCgccgccgccaagtgagtgcg	8	5	14	14	6	0	1	0	1	0	0	1	3	0	2	5	2	2	1	5	2	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr5:174152030C>T	uc003mcy.3	+	0	456	c.368C>T	c.(367-369)tCg>tTg	p.S123L		NM_002449	NP_002440	P35548	MSX2_HUMAN	Homo sapiens msh homeobox 2 (MSX2), mRNA.	123					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGCCGATATTCGCCGCCGCCA	0.677													T	174152030	C	T	174152030	3	4	279	1	0	0	0	0	1	0	0	0	9972	893	31	1	370	1	MSX2	5	174152030	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	24647687	174152030	6763230	22	19609											
F13A1	2162	broad.mit.edu	37	chr6	6174842	6174842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagcgtcacgtcgaacGtctccttcttgaattctgcc	6	12	8	15	4	4	1	1	1	3	0	7	2	5	1	3	0	3	1	3	0	2	3	rs113599940		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:6174842G>A	uc003mwv.3	-	11	1841	c.1718C>T	c.(1717-1719)aCg>aTg	p.T573M	F13A1_uc011dib.2_Missense_Mutation_p.T510M	NM_000129	NP_000120	P00488	F13A_HUMAN	Homo sapiens coagulation factor XIII, A1 polypeptide (F13A1), mRNA.	573					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CACGTCGAACGTCTCCTTCTT	0.527													A	6174842	G	A	6174842	3	1	279	1	0	0	0	0	1	0	0	0	5382	1145	40	1	496	1	F13A1	6	6174842	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		6174842	164940225	23	19610											
FTSJD2	23070	broad.mit.edu	37	chr6	37438827	37438827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagatcaaagctctggcGaaaatccatgcctttgttca	11	11	8	11	1	3	1	2	0	1	1	4	2	4	1	2	1	3	3	2	1	3	2	rs146308234		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:37438827G>A	uc003ons.3	+	13	1789	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A		NM_015050	NP_055865	Q8N1G2	MTR1_HUMAN	Homo sapiens FtsJ methyltransferase domain containing 2 (FTSJD2), mRNA.	512					mRNA capping	cytoplasm|nucleus	mRNA (nucleoside-2'-O-)-methyltransferase activity|nucleic acid binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(6)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(2)	31						AAGCTCTGGCGAAAATCCATG	0.418													A	37438827	G	A	37438827	2	1	279	1	0	0	0	0	0	0	0	1	6143	1045	37	1		1	FTSJD2	6	37438827	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	31263985	37438827	133676240	24	19611											
SNAP91	9892	broad.mit.edu	37	chr6	84302667	84302667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcaaagcactcaccaGataagaggtcagcagtgaga	14	6	11	10	0	2	3	2	1	0	3	2	4	2	3	2	2	2	3	2	2	2	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:84302667G>T	uc021zcf.1	-	18	1874	c.1844C>A	c.(1843-1845)tCt>tAt	p.S615Y	SNAP91_uc011dzd.2_Missense_Mutation_p.S118Y|SNAP91_uc003pka.3_Missense_Mutation_p.S613Y|SNAP91_uc011dze.2_Missense_Mutation_p.S613Y|SNAP91_uc003pkc.3_Missense_Mutation_p.S613Y|SNAP91_uc003pkd.3_Intron|SNAP91_uc003pkb.3_Missense_Mutation_p.S552Y	NM_014841	NP_055656	O60641	AP180_HUMAN	Homo sapiens synaptosomal-associated protein, 91kDa homolog (mouse) (SNAP91), transcript variant 1, mRNA.	615					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GCACTCACCAGATAAGAGGTC	0.448													T	84302667	G	T	84302667	3	4	279	1	0	0	0	0	1	0	0	0	14927	942	33	4	919	4	SNAP91	6	84302667	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	46863840	84302667	86812400	25	19612											
GPRC6A	222545	broad.mit.edu	37	chr6	117113591	117113591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaataataacatagcatttgGggatgaatgtgcaatacagg	17	10	10	4	0	0	1	0	1	0	0	0	2	0	2	0	3	4	2	0	3	7	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr6:117113591G>T	uc003pxj.1	-	5	2517	c.2495C>A	c.(2494-2496)cCc>cAc	p.P832H	GPRC6A_uc003pxk.1_Missense_Mutation_p.P657H|GPRC6A_uc003pxl.1_Missense_Mutation_p.P761H	NM_148963	NP_683766	Q5T6X5	GPC6A_HUMAN	Homo sapiens G protein-coupled receptor, family C, group 6, member A (GPRC6A), mRNA.	832					response to amino acid stimulus		G-protein coupled receptor activity	p.P832H(2)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		ATAGCATTTGGGGATGAATGT	0.368													T	117113591	G	T	117113591	3	4	279	1	0	0	0	0	1	0	0	0	6783	1232	43	4	289	4	GPRC6A	6	117113591	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	32810924	117113591	54001476	26	19613											
INTS1	26173	broad.mit.edu	37	chr7	1538054	1538054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgggcctaccttgggCgccagctctgagctgtgctg	4	9	14	14	1	1	1	0	1	1	0	1	2	1	1	4	2	4	3	4	2	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr7:1538054C>T	uc003skn.2	-	9	1520	c.1419G>A	c.(1417-1419)gcG>gcA	p.A473A	INTS1_uc003skq.2_Silent_p.A473A	NM_001080453	NP_001073922	Q8N201	INT1_HUMAN	Homo sapiens integrator complex subunit 1 (INTS1), mRNA.	473					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CTACCTTGGGCGCCAGCTCTG	0.642													T	1538054	C	T	1538054	2	4	279	1	0	0	0	0	0	0	0	1	7833	755	27	1		1	INTS1	7	1538054	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		1538054	157600609	27	19614											
ESRP1	54845	broad.mit.edu	37	chr8	95683852	95683852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatttcctgggggagttcGccacagatattcgtactcat	8	13	11	9	2	1	1	1	0	0	1	4	3	2	3	2	3	1	2	2	3	2	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr8:95683852G>A	uc003ygq.4	+	10	1588	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	ESRP1_uc003ygr.4_Missense_Mutation_p.A469T|ESRP1_uc003ygs.4_Missense_Mutation_p.A469T|ESRP1_uc003ygt.4_Missense_Mutation_p.A469T|ESRP1_uc003ygu.4_Missense_Mutation_p.A469T|ESRP1_uc003ygv.3_Missense_Mutation_p.A309T|ESRP1_uc003ygw.3_Missense_Mutation_p.A309T	NM_017697	NP_060167	Q6NXG1	ESRP1_HUMAN	Homo sapiens epithelial splicing regulatory protein 1 (ESRP1), transcript variant 1, mRNA.	469	RRM 3.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						GGGGGAGTTCGCCACAGATAT	0.438													A	95683852	G	A	95683852	3	1	279	1	0	0	0	0	1	0	0	0	5299	1087	38	1	1447	1	ESRP1	8	95683852	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		95683852	50680170	28	19615											
BNC2	54796	broad.mit.edu	37	chr9	16435990	16435990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttccatggattcctcGcccagtttgggctccgaaga	6	11	9	15	2	0	1	0	0	0	1	5	3	4	2	6	2	0	2	6	2	1	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:16435990G>A	uc003zml.3	-	5	2342	c.2202C>T	c.(2200-2202)ggC>ggT	p.G734G	BNC2_uc011lmw.2_Silent_p.G639G|BNC2_uc003zmm.3_Silent_p.G692G|BNC2_uc003zmq.1_Silent_p.G748G|BNC2_uc003zmr.1_Silent_p.G771G|BNC2_uc003zmp.1_Silent_p.G762G|BNC2_uc010mij.1_Silent_p.G656G|BNC2_uc011lmv.2_Silent_p.G560G|BNC2_uc003zmo.1_Silent_p.G656G|BNC2_uc003zmj.3_Silent_p.G499G|BNC2_uc003zmk.3_Non-coding_Transcript|BNC2_uc003zmi.3_Silent_p.G499G|BNC2_uc003zmn.1_Silent_p.G499G	NM_017637	NP_060107	Q6ZN30	BNC2_HUMAN	Homo sapiens basonuclin 2 (BNC2), mRNA.	734					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TGGATTCCTCGCCCAGTTTGG	0.517													A	16435990	G	A	16435990	2	1	279	1	0	0	0	0	0	0	0	1	1481	1074	38	1		1	BNC2	9	16435990	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08		16435990	124777441	29	19616											
LINGO2	158038	broad.mit.edu	37	chr9	27948963	27948963	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtttttgtgcttgcctttCcctcggctccacacaaaaag	7	14	7	13	1	0	0	0	0	0	0	3	0	2	0	3	1	2	3	3	1	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:27948963C>A	uc003zqv.1	-	6	2357	c.1707G>T	c.(1705-1707)ggG>ggT	p.G569G	LINGO2_uc010mjf.1_Silent_p.G569G|LINGO2_uc003zqu.1_Silent_p.G569G|LINGO2_uc022bfc.1_Silent_p.G569G	NM_152570	NP_689783	Q7L985	LIGO2_HUMAN	Homo sapiens leucine rich repeat and Ig domain containing 2 (LINGO2), mRNA.	569						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		GCTTGCCTTTCCCTCGGCTCC	0.463													A	27948963	C	A	27948963	2	1	279	1	0	0	0	0	0	0	0	1	8876	842	30	4		4	LINGO2	9	27948963	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	11512973	27948963	113264468	30	19617											
PHF2	5253	broad.mit.edu	37	chr9	96408031	96408031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggtctggctgtcccGgcccccacgttctatgtcag	3	10	14	14	2	3	0	1	0	2	0	4	0	4	0	3	4	0	3	3	4	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:96408031G>A	uc004aub.3	+	3	567	c.420G>A	c.(418-420)ccG>ccA	p.P140P	PHF2_uc011lug.1_Silent_p.P23P	NM_005392	NP_005383	O75151	PHF2_HUMAN	Homo sapiens PHD finger protein 2 (PHF2), mRNA.	140					liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		TGGCTGTCCCGGCCCCCACGT	0.627													A	96408031	G	A	96408031	2	1	279	1	0	0	0	0	0	0	0	1	11907	1103	39	1		1	PHF2	9	96408031	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	68459068	96408031	44805400	31	19618											
OR13C8	138802	broad.mit.edu	37	chr9	107331658	107331658	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatctttccttcctcgaCgtttgctacacaagttcctc	7	16	5	13	2	1	0	0	0	1	0	6	1	4	0	3	0	2	4	3	0	3	6			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:107331658C>T	uc011lvo.2	+	0	210	c.210C>T	c.(208-210)gaC>gaT	p.D70D		NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily C, member 8 (OR13C8), mRNA.	70					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.D70Y(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						CCTTCCTCGACGTTTGCTACA	0.423													T	107331658	C	T	107331658	2	4	279	1	0	0	0	0	0	0	0	1	11014	535	19	1		1	OR13C8	9	107331658	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	10923627	107331658	33881773	32	19619											
ZNF79	7633	broad.mit.edu	37	chr9	130207274	130207274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtgagagctcagcccTcattcggcatcatataatcc	10	11	7	13	1	4	1	4	1	0	1	6	2	5	1	2	1	2	2	2	1	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr9:130207274T>C	uc004bqw.4	+	4	1709	c.1295T>C	c.(1294-1296)cTc>cCc	p.L432P	ZNF79_uc011maf.2_Missense_Mutation_p.L408P|ZNF79_uc011mag.2_Missense_Mutation_p.L408P	NM_007135	NP_009066	Q15937	ZNF79_HUMAN	Homo sapiens zinc finger protein 79 (ZNF79), mRNA.	432					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						AGCTCAGCCCTCATTCGGCAT	0.443													C	130207274	T	C	130207274	3	2	279	1	0	0	0	0	1	0	0	0	18260	1551	54	3	1313	3	ZNF79	9	130207274	Missense_Mutation	SNP	T	TCGA-76-6663-01A-11D-1845-08	22875616	130207274	11006157	33	19620											
KNDC1	85442	broad.mit.edu	37	chr10	135020649	135020649	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgctccggcaggtcatgtaCgcggaacgctggggcctgga	6	6	16	13	5	1	0	1	0	0	0	2	2	2	2	3	6	2	4	3	6	2	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr10:135020649C>A	uc001llz.1	+	19	3589	c.3588C>A	c.(3586-3588)taC>taA	p.Y1196*	KNDC1_uc001lma.1_3'UTR	NM_152643	NP_689856	Q76NI1	VKIND_HUMAN	Homo sapiens kinase non-catalytic C-lobe domain (KIND) containing 1 (KNDC1), transcript variant 1, mRNA.	1196					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGGTCATGTACGCGGAACGCT	0.657													A	135020649	C	A	135020649	4	1	279	1	0	0	0	0	0	1	0	0	8484	547	19	4	3666	4	KNDC1	10	135020649	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		135020649	514098	34	19621											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955702	18955702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacgtacagcctggtcagCggtatcttccgggatccaca	8	9	11	13	3	3	0	2	0	1	0	5	1	5	1	3	3	3	2	3	3	2	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr11:18955702C>T	uc001mpg.3	-	0	848	c.630G>A	c.(628-630)ccG>ccA	p.P210P		NM_147199	NP_671732	Q96LB2	MRGX1_HUMAN	Homo sapiens MAS-related GPR, member X1 (MRGPRX1), mRNA.	210					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GCCTGGTCAGCGGTATCTTCC	0.507													T	18955702	C	T	18955702	2	4	279	1	0	0	0	0	0	0	0	1	9842	755	27	1		1	MRGPRX1	11	18955702	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		18955702	116050814	35	19622											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435195	18435195	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacgagagtgaaattgatgaAaacaccttttttgtgcccac	13	12	8	8	1	0	4	0	3	0	1	0	5	0	4	2	0	3	0	2	0	4	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:18435195A>G	uc001rdt.3	+	1	296	c.180A>G	c.(178-180)gaA>gaG	p.E60E	PIK3C2G_uc010sia.2_Non-coding_Transcript|PIK3C2G_uc010sib.2_Silent_p.E60E|PIK3C2G_uc010sic.2_5'UTR	NM_004570	NP_004561	O75747	P3C2G_HUMAN	Homo sapiens phosphoinositide-3-kinase, class 2, gamma polypeptide (PIK3C2G), mRNA.	60					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				AAATTGATGAAAACACCTTTT	0.398													G	18435195	A	G	18435195	2	3	279	1	0	0	0	0	0	0	0	1	11988	11	1	3		3	PIK3C2G	12	18435195	Silent	SNP	A	TCGA-76-6663-01A-11D-1845-08		18435195	115416700	36	19623											
GLI1	2735	broad.mit.edu	37	chr12	57864141	57864141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggccccccagtctctcttGaacgccgcagcagcagctcc	6	7	10	18	2	2	1	0	1	2	0	4	1	3	1	5	1	4	4	5	1	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:57864141G>A	uc001snx.3	+	11	1712	c.1618G>A	c.(1618-1620)Gaa>Aaa	p.E540K	GLI1_uc021qzi.1_Missense_Mutation_p.E499K|GLI1_uc009zpq.3_Missense_Mutation_p.E412K	NM_005269	NP_001153517	P08151	GLI1_HUMAN	Homo sapiens GLI family zinc finger 1 (GLI1), transcript variant 1, mRNA.	540					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			AGTCTCTCTTGAACGCCGCAG	0.612													A	57864141	G	A	57864141	3	1	279	1	0	0	0	0	1	0	0	0	6493	1291	45	2	1660	2	GLI1	12	57864141	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	39428946	57864141	75987754	37	19624											
TRHDE	283392	broad.mit.edu	37	chr12	72667155	72667155	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggccgaggaccgggcGttcggggctgtccctgtagc	4	7	17	13	4	0	0	0	0	0	0	2	2	1	1	3	5	2	4	3	5	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:72667155G>A	uc001sxa.3	+	0	627	c.597G>A	c.(595-597)gcG>gcA	p.A199A	LOC283392_uc010stv.2_5'UTR|LOC283392_uc021rat.1_5'Flank	NM_013381	NP_037513	Q9UKU6	TRHDE_HUMAN	Homo sapiens thyrotropin-releasing hormone degrading enzyme (TRHDE), mRNA.	199					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						AGGACCGGGCGTTCGGGGCTG	0.607													A	72667155	G	A	72667155	1	1	279	1	0	0	0	0	0	0	0	0	16580	1132	40	1		1	TRHDE	12	72667155	Translation_Start_Site	SNP	G	TCGA-76-6663-01A-11D-1845-08	14803014	72667155	61184740	38	19625											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100433500	100433500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatcatactttccactGgtcagcagcactgaatcgct	10	12	7	12	1	3	2	3	1	0	1	5	2	4	2	1	1	3	3	1	1	2	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:100433500G>A	uc001tgq.3	-	19	4378	c.4149C>T	c.(4147-4149)acC>acT	p.T1383T	UHRF1BP1L_uc001tgp.3_Silent_p.T1033T	NM_015054	NP_055869	A0JNW5	UH1BL_HUMAN	Homo sapiens UHRF1 binding protein 1-like (UHRF1BP1L), transcript variant 1, mRNA.	1383										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						ACTTTCCACTGGTCAGCAGCA	0.428													A	100433500	G	A	100433500	2	1	279	1	0	0	0	0	0	0	0	1	17071	1335	47	2		2	UHRF1BP1L	12	100433500	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	27766345	100433500	33418395	39	19626											
DNAH10	196385	broad.mit.edu	37	chr12	124298408	124298408	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctagtcatggaactcagAtatagggacgtccaggagcg	11	9	12	9	2	3	1	2	0	1	1	5	4	4	4	1	3	2	0	1	3	4	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr12:124298408A>C	uc001uft.4	+	19	3400	c.3375A>C	c.(3373-3375)agA>agC	p.R1125S	DNAH10_uc010tav.1_3'UTR|DNAH10_uc010taw.1_3'UTR	NM_207437	NP_997320	Q8IVF4	DYH10_HUMAN	Homo sapiens dynein, axonemal, heavy chain 10 (DNAH10), mRNA.	1125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGGAACTCAGATATAGGGACG	0.383													C	124298408	A	C	124298408	3	2	279	1	0	0	0	0	1	0	0	0	4637	330	12	5	3453	5	DNAH10	12	124298408	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	23864908	124298408	9553487	40	19627											
RB1	5925	broad.mit.edu	37	chr13	49039399	49039399	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttacaagtttcctagttCacccttacggattcctggag	8	13	7	13	1	1	0	1	0	0	0	3	2	3	2	4	2	2	2	4	2	4	6			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr13:49039399C>A	uc001vcb.3	+	22	2550	c.2384C>A	c.(2383-2385)tCa>tAa	p.S795*		NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	795	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.				androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)|p.S794I(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTAGTTCACCCTTACGG	0.393		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	49039399	C	A	49039399	4	1	279	1	0	0	0	0	0	1	0	0	13186	838	29	4	2474	4	RB1	13	49039399	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		49039399	66130479	41	19628											
AHNAK2	113146	broad.mit.edu	37	chr14	105414185	105414185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccaggtcagcggaaggggGctgaatgctgaggtcagtgg	8	7	18	8	1	2	2	2	2	0	0	3	3	3	3	1	6	2	2	1	6	2	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr14:105414185G>A	uc010axc.1	-	6	7723	c.7603C>T	c.(7603-7605)Ccc>Tcc	p.P2535S	AHNAK2_uc021seo.1_Intron|AHNAK2_uc001ypx.2_Missense_Mutation_p.P2435S	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	Homo sapiens AHNAK nucleoprotein 2 (AHNAK2), mRNA.	2535						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCGGAAGGGGGCTGAATGCTG	0.667													A	105414185	G	A	105414185	3	1	279	1	0	0	0	0	1	0	0	0	415	1203	42	2	9788	2	AHNAK2	14	105414185	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		105414185	1935355	42	19629											
CEP152	22995	broad.mit.edu	37	chr15	49030645	49030645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcctggctccaaatacGtggtttcttctgacaggtat	7	16	8	10	1	3	1	0	1	3	0	5	1	5	1	2	3	1	3	2	3	3	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr15:49030645G>A	uc001zwz.3	-	26	5127	c.4934C>T	c.(4933-4935)aCg>aTg	p.T1645M	CEP152_uc001zwy.3_Missense_Mutation_p.T1589M	NM_001194998	NP_001181927	O94986	CE152_HUMAN	Homo sapiens centrosomal protein 152kDa (CEP152), transcript variant 1, mRNA.	1589					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		CTCCAAATACGTGGTTTCTTC	0.383													A	49030645	G	A	49030645	3	1	279	1	0	0	0	0	1	0	0	0	3278	1145	40	1	202	1	CEP152	15	49030645	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		49030645	53500747	43	19630											
ZP2	7783	broad.mit.edu	37	chr16	21216830	21216830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgaagccttccttcatggCctctggcagggtcagagttt	6	12	12	11	0	3	2	2	1	1	1	4	2	4	2	3	3	1	3	3	3	1	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:21216830C>T	uc010bwn.1	-	6	803	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	ZP2_uc002dii.2_Missense_Mutation_p.A202T|ZP2_uc010bwo.3_Missense_Mutation_p.A241T	NM_003460	NP_003451	Q05996	ZP2_HUMAN	Homo sapiens zona pellucida glycoprotein 2 (sperm receptor) (ZP2), mRNA.	202					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TCCTTCATGGCCTCTGGCAGG	0.493													T	21216830	C	T	21216830	3	4	279	1	0	0	0	0	1	0	0	0	18315	739	26	2	1685	2	ZP2	16	21216830	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		21216830	69137923	44	19631											
TAOK2	9344	broad.mit.edu	37	chr16	29990328	29990328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggaggtagagatcgCagctgtgacccacggggcgc	8	6	15	12	3	1	2	1	1	0	1	2	4	1	3	2	4	1	3	2	4	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr16:29990328C>T	uc010bzm.2	+	4	421	c.386C>T	c.(385-387)gCa>gTa	p.A129V	BOLA2_uc010bzb.1_Intron|TAOK2_uc002dvb.2_Missense_Mutation_p.A129V|TAOK2_uc021tgf.1_Missense_Mutation_p.A129V|TAOK2_uc002dva.2_Missense_Mutation_p.A129V|TAOK2_uc002dvc.2_Missense_Mutation_p.A129V|TAOK2_uc002dvd.2_5'Flank	NM_016151	NP_057235	Q9UL54	TAOK2_HUMAN	Homo sapiens TAO kinase 2 (TAOK2), transcript variant 1, mRNA.	129	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GTAGAGATCGCAGCTGTGACC	0.577													T	29990328	C	T	29990328	3	4	279	1	0	0	0	0	1	0	0	0	15645	710	25	2	404	2	TAOK2	16	29990328	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	8773498	29990328	60364425	45	19632											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:7577538C>A	uc002gim.2	-	6	937	c.743G>T	c.(742-744)cGg>cTg	p.R248L	TP53_uc002gig.1_Missense_Mutation_p.R248L|TP53_uc002gih.3_Missense_Mutation_p.R248L|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116L|TP53_uc010cnf.1_Missense_Mutation_p.R116L|TP53_uc002gii.1_Missense_Mutation_p.R116L|TP53_uc010cni.1_Missense_Mutation_p.R248L|TP53_uc010cnh.1_Missense_Mutation_p.R248L|TP53_uc002gij.2_Missense_Mutation_p.R248L|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155L|TP53_uc002gio.2_Missense_Mutation_p.R116L|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(1145)|p.R248W(513)|p.R248L(145)|p.R248P(35)|p.R155Q(18)|p.R248G(12)|p.N247N(10)|p.R248R(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.N247_R248delNR(4)|p.M246_P250delMNRRP(4)|p.N247T(4)|p.N247I(3)|p.R155L(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247_R248>KW(2)|p.R155P(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.R248fs*97(2)|p.N247_R248>IP(2)|p.N247K(2)|p.unknown(1)|p.R248fs*>39(1)|p.N247F(1)|p.R249fs*96(1)|p.R248Y(1)|p.G245fs*14(1)|p.N247fs*98(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			A	7577538	C	A	7577538	3	1	279	1	0	0	0	0	1	0	0	0	16482	652	23	4	547	4	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08		7577538	73617672	46	19633											
COPS3	8533	broad.mit.edu	37	chr17	17163668	17163668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatgacaagcattgcttcaCcagccccatgttgttatcgc	10	11	8	12	1	1	2	1	1	0	1	2	2	1	2	3	0	3	4	3	0	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:17163668C>A	uc002grd.3	-	7	1000	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	COPS3_uc010vwv.2_Missense_Mutation_p.V275L|COPS3_uc010vww.2_Missense_Mutation_p.V165L	NM_003653	NP_001186054	Q9UNS2	CSN3_HUMAN	Homo sapiens COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis) (COPS3), transcript variant 1, mRNA.	295	PCI.				cullin deneddylation|response to light stimulus|signal transduction	cytoplasm|signalosome	protein binding			NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						CATTGCTTCACCAGCCCCATG	0.488													A	17163668	C	A	17163668	3	1	279	1	0	0	0	0	1	0	0	0	3765	507	18	4	408	4	COPS3	17	17163668	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	9586130	17163668	64031542	47	19634											
NF1	4763	broad.mit.edu	37	chr17	29497003	29497003	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggattgtgcaaaattaaaaCgactcctgaagggtaagttt	14	12	10	5	1	0	1	0	1	0	0	1	3	1	2	1	2	2	3	1	2	6	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:29497003C>T	uc002hgg.3	+	4	957	c.574C>T	c.(574-576)Cga>Tga	p.R192*	NF1_uc002hge.2_Nonsense_Mutation_p.R192*|NF1_uc002hgf.2_Nonsense_Mutation_p.R192*|NF1_uc002hgh.3_Nonsense_Mutation_p.R192*|NF1_uc010csn.2_Intron	NM_001042492	NP_001035957	P21359	NF1_HUMAN	Homo sapiens neurofibromin 1 (NF1), transcript variant 1, mRNA.	192					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R192*(4)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAAATTAAAACGACTCCTGAA	0.284			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29497003	C	T	29497003	4	4	279	1	0	0	0	0	0	1	0	0	10432	528	19	1	592	1	NF1	17	29497003	Nonsense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	12333335	29497003	51698207	48	19635											
CCL4	6351	broad.mit.edu	37	chr17	34432024	34432024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcagcctctgctcccaGccagctgtggtgtgagtatc	7	9	11	14	0	1	1	0	1	1	0	3	1	2	1	4	1	5	4	4	1	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:34432024G>A	uc002hkw.1	+	1	259	c.180G>A	c.(178-180)caG>caA	p.Q60Q	CCL4_uc002hkx.1_Intron	NM_002984	NP_002975	P13236	CCL4_HUMAN	Homo sapiens chemokine (C-C motif) ligand 4 (CCL4), transcript variant 1, mRNA.	60					cell adhesion|cell-cell signaling|cellular component movement|chemotaxis|establishment or maintenance of cell polarity|immune response|inflammatory response|response to virus|viral genome replication	extracellular space	chemokine activity|receptor signaling protein tyrosine kinase activity			endometrium(1)|large_intestine(1)|lung(2)	4		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTGCTCCCAGCCAGCTGTGG	0.572													A	34432024	G	A	34432024	2	1	279	1	0	0	0	0	0	0	0	1	2932	962	34	2		2	CCL4	17	34432024	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	4935021	34432024	46763186	49	19636											
GH1	2688	broad.mit.edu	37	chr17	61995751	61995751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgcagacgatgggcGcggagcatagcgttgtcaaa	10	7	16	8	4	1	1	1	0	0	1	1	3	1	2	0	3	4	4	0	3	2	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr17:61995751G>A	uc002jdj.3	-	1	188	c.126C>T	c.(124-126)cgC>cgT	p.R42R	GH1_uc002jdi.3_Silent_p.R42R|GH1_uc002jdk.3_Silent_p.R42R|GH1_uc002jdl.3_Silent_p.R42R|GH1_uc002jdm.3_Intron|GH1_uc002jdn.3_Silent_p.R42R	NM_000515	NP_000506	P01241	SOMA_HUMAN	Homo sapiens growth hormone 1 (GH1), transcript variant 1, mRNA.	42			R -> C (in IGHD1B; reduced secretion).		glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	p.R42R(2)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GACGATGGGCGCGGAGCATAG	0.582													A	61995751	G	A	61995751	2	1	279	1	0	0	0	0	0	0	0	1	6423	1074	38	1		1	GH1	17	61995751	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	27563727	61995751	19199459	50	19637											
LAMA1	284217	broad.mit.edu	37	chr18	7009321	7009321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacataaaatcctctcgCgtgacaggtttttcagaaac	14	10	7	10	2	2	3	1	1	1	2	4	3	3	3	1	1	1	1	1	1	3	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:7009321C>T	uc002knm.3	-	26	4012	c.3918G>A	c.(3916-3918)acG>acA	p.T1306T	LAMA1_uc010wzj.2_Silent_p.T782T	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	1306	Laminin IV type A 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCCTCTCGCGTGACAGGTT	0.403													T	7009321	C	T	7009321	2	4	279	1	0	0	0	0	0	0	0	1	8664	755	27	1		1	LAMA1	18	7009321	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		7009321	71067927	51	19638											
ONECUT2	9480	broad.mit.edu	37	chr18	55143729	55143729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattcccagaagaagtcccGcctggtgttcactgacctcc	9	9	8	15	1	1	3	1	1	0	2	4	3	4	3	5	1	0	1	5	1	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr18:55143729G>A	uc002lgo.3	+	1	1321	c.1289G>A	c.(1288-1290)cGc>cAc	p.R430H		NM_004852	NP_004843	O95948	ONEC2_HUMAN	Homo sapiens one cut homeobox 2 (ONECUT2), mRNA.	430					organ morphogenesis	nucleus	sequence-specific DNA binding	p.R430H(4)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		AAGAAGTCCCGCCTGGTGTTC	0.517													A	55143729	G	A	55143729	3	1	279	1	0	0	0	0	1	0	0	0	10945	1087	38	1	1295	1	ONECUT2	18	55143729	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	48134408	55143729	22933519	52	19639											
MATK	4145	broad.mit.edu	37	chr19	3779708	3779708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcacgtcatgacggccGtctcgtccaggaaggcctgg	7	7	14	13	4	3	1	2	1	1	0	5	3	4	3	3	5	0	0	3	5	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:3779708G>A	uc002lyt.3	-	8	1230	c.830C>T	c.(829-831)aCg>aTg	p.T277M	MATK_uc002lyv.3_Missense_Mutation_p.T278M|MATK_uc002lyu.3_Missense_Mutation_p.T236M|MATK_uc010dtq.3_Missense_Mutation_p.T277M|JA611290_uc021umx.1_5'Flank	NM_139355	NP_647611	P42679	MATK_HUMAN	Homo sapiens megakaryocyte-associated tyrosine kinase (MATK), transcript variant 1, mRNA.	277	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGACGGCCGTCTCGTCCAG	0.677													A	3779708	G	A	3779708	3	1	279	1	0	0	0	0	1	0	0	0	9407	1145	40	1	717	1	MATK	19	3779708	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		3779708	55349275	53	19640											
ZNF536	9745	broad.mit.edu	37	chr19	31039823	31039823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtgcatggaccggccaCgtggaccctgcattttgtaa	8	9	13	11	3	0	0	0	0	0	0	0	2	0	2	3	4	3	3	3	4	1	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:31039823C>T	uc002nsu.1	+	3	3435	c.3297C>T	c.(3295-3297)caC>caT	p.H1099H	ZNF536_uc010edd.1_Silent_p.H1099H	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGACCGGCCACGTGGACCCTG	0.542													T	31039823	C	T	31039823	2	4	279	1	0	0	0	0	0	0	0	1	18075	535	19	1		1	ZNF536	19	31039823	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08	27260115	31039823	28089160	54	19641											
ZNF181	339318	broad.mit.edu	37	chr19	35232341	35232341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaaactctatgagtgtcGtatatgtggaaaggccttca	14	11	10	6	1	2	2	1	1	1	1	3	3	2	3	1	2	1	1	1	2	6	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:35232341G>A	uc002nvu.3	+	3	1518	c.1055G>A	c.(1054-1056)cGt>cAt	p.R352H	ZNF181_uc010xsb.1_Missense_Mutation_p.R351H|ZNF181_uc010xsc.1_Missense_Mutation_p.R287H	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	Homo sapiens zinc finger protein 181 (ZNF181), transcript variant 1, mRNA.	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			TATGAGTGTCGTATATGTGGA	0.373													A	35232341	G	A	35232341	3	1	279	1	0	0	0	0	1	0	0	0	17850	1145	40	1	1069	1	ZNF181	19	35232341	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	4192518	35232341	23896642	55	19642											
ZNF345	25850	broad.mit.edu	37	chr19	37367974	37367974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtccttgttcgacatcAgcgaattcatactggtgaga	11	12	9	9	2	3	1	3	1	0	1	5	4	4	1	1	1	2	1	1	1	2	4			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:37367974A>G	uc002oex.3	+	2	623	c.242A>G	c.(241-243)cAg>cGg	p.Q81R	ZNF345_uc021utn.1_Missense_Mutation_p.Q81R|ZNF345_uc002oey.4_Missense_Mutation_p.Q81R|ZNF345_uc002oez.2_Intron|ZNF345_uc021uto.1_Missense_Mutation_p.Q81R|ZNF345_uc021utp.1_Missense_Mutation_p.Q81R|ZNF345_uc021utq.1_Missense_Mutation_p.Q81R	NM_003419	NP_003410	Q14585	ZN345_HUMAN	Homo sapiens zinc finger protein 345 (ZNF345), transcript variant 1, mRNA.	81					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTTCGACATCAGCGAATTCAT	0.398													G	37367974	A	G	37367974	3	3	279	1	0	0	0	0	1	0	0	0	17960	188	7	3	244	3	ZNF345	19	37367974	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	2135633	37367974	21761009	56	19643											
SLC17A7	57030	broad.mit.edu	37	chr19	49937876	49937876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacaaaaggctgtcgtcGccaggcgactccgttctaag	10	7	10	14	4	1	0	0	0	1	0	4	1	2	0	3	2	0	2	3	2	3	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr19:49937876G>A	uc002pnp.3	-	4	792	c.620C>T	c.(619-621)gCg>gTg	p.A207V	SLC17A7_uc002pnq.1_Missense_Mutation_p.A140V|SLC17A7_uc002pno.3_5'UTR	NM_020309	NP_064705	Q9P2U7	VGLU1_HUMAN	Homo sapiens solute carrier family 17 (sodium-dependent inorganic phosphate cotransporter), member 7 (SLC17A7), mRNA.	207					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity	p.A207A(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		GGCTGTCGTCGCCAGGCGACT	0.602													A	49937876	G	A	49937876	3	1	279	1	0	0	0	0	1	0	0	0	14516	1087	38	1	1094	1	SLC17A7	19	49937876	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	12569902	49937876	9191107	57	19644											
HNF4A	3172	broad.mit.edu	37	chr20	43034798	43034798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggccacgggcaaacactaCggtgcctcgagctgtgacgg	8	5	15	13	5	0	1	0	1	0	0	1	2	0	1	2	4	4	2	2	4	2	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr20:43034798C>T	uc002xma.3	+	1	305	c.216C>T	c.(214-216)taC>taT	p.Y72Y	HNF4A_uc010zwo.1_Missense_Mutation_p.T63M|HNF4A_uc002xlt.3_Silent_p.Y50Y|HNF4A_uc002xlu.3_Silent_p.Y50Y|HNF4A_uc002xlv.3_Silent_p.Y50Y|HNF4A_uc002xly.3_Silent_p.Y72Y|HNF4A_uc010ggq.3_Silent_p.Y65Y|HNF4A_uc002xlz.3_Silent_p.Y72Y|MIR3646_uc021wed.1_5'Flank	NM_000457	NP_000448	P41235	HNF4A_HUMAN	Homo sapiens hepatocyte nuclear factor 4, alpha (HNF4A), transcript variant 2, mRNA.	72					blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GCAAACACTACGGTGCCTCGA	0.622													T	43034798	C	T	43034798	2	4	279	1	0	0	0	0	0	0	0	1	7308	547	19	1		1	HNF4A	20	43034798	Silent	SNP	C	TCGA-76-6663-01A-11D-1845-08		43034798	19990722	58	19645											
ABCG1	9619	broad.mit.edu	37	chr21	43716431	43716431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggacttcatcgtactcGggattttcttcatctccctc	6	15	6	14	2	4	0	2	0	2	0	8	2	4	2	2	2	1	1	2	2	1	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr21:43716431G>A	uc011aev.2	+	14	2073	c.1999G>A	c.(1999-2001)Ggg>Agg	p.G667R	ABCG1_uc002zam.3_Missense_Mutation_p.G622R|ABCG1_uc002zan.3_Missense_Mutation_p.G646R|ABCG1_uc002zao.3_Missense_Mutation_p.G641R|ABCG1_uc002zap.3_Missense_Mutation_p.G644R|ABCG1_uc002zaq.3_Missense_Mutation_p.G656R|ABCG1_uc002zar.3_Missense_Mutation_p.G655R|AL355711_uc002zau.3_5'Flank	NM_004915	NP_004906	P45844	ABCG1_HUMAN	Homo sapiens ATP-binding cassette, sub-family G (WHITE), member 1 (ABCG1), transcript variant 4, mRNA.	656	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CATCGTACTCGGGATTTTCTT	0.522													A	43716431	G	A	43716431	3	1	279	1	0	0	0	0	1	0	0	0	68	1116	39	1	2192	1	ABCG1	21	43716431	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		43716431	4413464	59	19646											
HPS4	89781	broad.mit.edu	37	chr22	26860320	26860320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggagcagagggagggcGcaagctgctgatggctgtgt	8	7	18	8	1	1	2	1	1	0	1	1	4	1	4	0	4	3	5	0	4	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:26860320G>A	uc003acl.3	-	10	1935	c.1276C>T	c.(1276-1278)Cgc>Tgc	p.R426C	HPS4_uc003aci.3_Missense_Mutation_p.R421C|HPS4_uc003acj.3_Missense_Mutation_p.R290C|HPS4_uc003ack.3_Missense_Mutation_p.R217C|HPS4_uc003acn.3_Missense_Mutation_p.R272C|HPS4_uc010gvd.1_Missense_Mutation_p.R444C|HPS4_uc003ach.3_Missense_Mutation_p.R161C	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN	Homo sapiens Hermansky-Pudlak syndrome 4 (HPS4), transcript variant 1, mRNA.	426					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GAGGGAGGGCGCAAGCTGCTG	0.622									Hermansky-Pudlak syndrome				A	26860320	G	A	26860320	3	1	279	1	0	0	0	0	1	0	0	0	7396	1087	38	1	866	1	HPS4	22	26860320	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		26860320	24444246	60	19647											
PANX2	56666	broad.mit.edu	37	chr22	50617533	50617533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatcctgagccgaaacGccacacacccgctgctgcac	10	5	7	19	3	1	1	1	1	0	0	2	2	2	1	5	0	4	3	5	0	1	0			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chr22:50617533G>A	uc003bjn.4	+	2	1861	c.1861G>A	c.(1861-1863)Gcc>Acc	p.A621T	PANX2_uc003bjp.4_Missense_Mutation_p.A487T|PANX2_uc003bjo.4_Missense_Mutation_p.A621T	NM_052839	NP_443071	Q96RD6	PANX2_HUMAN	Homo sapiens pannexin 2 (PANX2), transcript variant 1, mRNA.	621					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCCGAAACGCCACACACCC	0.711													A	50617533	G	A	50617533	3	1	279	1	0	0	0	0	1	0	0	0	11497	1087	38	1	1871	1	PANX2	22	50617533	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	23757213	50617533	687033	61	19648											
MXRA5	25878	broad.mit.edu	37	chrX	3241682	3241682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcctttgcacctgggcGtctgcctcttttggatggca	6	12	12	11	1	2	1	0	0	2	1	2	2	2	2	3	3	3	2	3	3	1	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:3241682G>A	uc004crg.4	-	4	2201	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C		NM_015419	NP_056234	Q9NR99	MXRA5_HUMAN	Homo sapiens matrix-remodelling associated 5 (MXRA5), mRNA.	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCACCTGGGCGTCTGCCTCTT	0.532													A	3241682	G	A	3241682	3	1	279	1	0	0	0	0	1	0	0	0	10079	1145	40	1	6454	1	MXRA5	23	3241682	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08		3241682	152028878	62	19649											
FRMPD4	9758	broad.mit.edu	37	chrX	12712508	12712508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttccgaattagcttcGtcccaaaagatccaattgac	11	13	6	11	2	1	2	0	1	1	1	5	3	4	2	3	0	1	1	3	0	5	5	rs148666498		TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:12712508G>A	uc004cuz.2	+	8	1374	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	FRMPD4_uc011mij.2_Missense_Mutation_p.V282I	NM_014728	NP_055543	Q14CM0	FRPD4_HUMAN	Homo sapiens FERM and PDZ domain containing 4 (FRMPD4), mRNA.	290	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AATTAGCTTCGTCCCAAAAGA	0.413													A	12712508	G	A	12712508	3	1	279	1	0	0	0	0	1	0	0	0	6111	1145	40	1	902	1	FRMPD4	23	12712508	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	9470826	12712508	142558052	63	19650											
YY2	404281	broad.mit.edu	37	chrX	21875300	21875300	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgatctctcagatcctaAacagctggcagaatttacta	13	12	6	10	0	2	3	1	1	1	2	4	3	3	3	1	1	3	2	1	1	5	5			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:21875300A>G	uc011mjp.2	+	0	1196	c.698A>G	c.(697-699)aAa>aGa	p.K233R	MBTPS2_uc004dae.3_Intron|MBTPS2_uc010nfr.3_Intron|MBTPS2_uc004dab.2_Intron	NM_206923	NP_996806	O15391	TYY2_HUMAN	Homo sapiens YY2 transcription factor (YY2), mRNA.	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						TCAGATCCTAAACAGCTGGCA	0.488													G	21875300	A	G	21875300	3	3	279	1	0	0	0	0	1	0	0	0	17611	14	1	3	700	3	YY2	23	21875300	Missense_Mutation	SNP	A	TCGA-76-6663-01A-11D-1845-08	9162792	21875300	133395260	64	19651											
MED12	9968	broad.mit.edu	37	chrX	70341522	70341523	+	Frame_Shift_Del	DEL	TA	TA	-																															agcagtcactcatctcatgtTatatctgctcagtcaacaag																										TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70341522_70341523delTA	uc004dyy.3	+	6	1156_1157	c.957_958delTA	c.(955-960)gttatafs	p.V319fs	MED12_uc011mpq.1_Frame_Shift_Del_p.V319fs|MED12_uc004dyz.3_Frame_Shift_Del_p.V319fs|MED12_uc004dza.3_Frame_Shift_Del_p.V166fs	NM_005120	NP_005111	Q93074	MED12_HUMAN	Homo sapiens mediator complex subunit 12 (MED12), mRNA.	319					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CATCTCATGTTATATCTGCTCA	0.554			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						-	70341523	TA	-	70341522	7	5	279	1	0	1	0	1	0	0	0	0	9503	1741	61	0	983	0	MED12	23	70341522	Frame_Shift_Del	DEL	TA	TCGA-76-6663-01A-11D-1845-08	48466222	70341522	84929038	65	19652											
ACRC	93953	broad.mit.edu	37	chrX	70824283	70824283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagcaaaccaccaagtgatCctgaggctaaccctgaagtt	13	8	8	12	0	1	3	1	3	0	0	2	3	2	3	4	1	3	3	4	1	4	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:70824283C>T	uc004eae.2	+	7	1657	c.1156C>T	c.(1156-1158)Cct>Tct	p.P386S	BCYRN1_uc011mpt.1_Intron	NM_052957	NP_443189	Q96QF7	ACRC_HUMAN	Homo sapiens acidic repeat containing (ACRC), mRNA.	386						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					ACCAAGTGATCCTGAGGCTAA	0.498													T	70824283	C	T	70824283	3	4	279	1	0	0	0	0	1	0	0	0	171	855	30	2	1182	2	ACRC	23	70824283	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	482761	70824283	84446277	66	19653											
DRP2	1821	broad.mit.edu	37	chrX	100490945	100490945	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggtctgttggtgcctctGgacccctggaaccaccagcc	6	8	12	15	1	2	0	0	0	2	0	2	2	2	2	6	4	3	1	6	4	1	1			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:100490945G>C	uc004egz.2	+	3	583	c.214G>C	c.(214-216)Gga>Cga	p.G72R	DRP2_uc011mrh.1_5'UTR	NM_001939	NP_001164655	Q13474	DRP2_HUMAN	Homo sapiens dystrophin related protein 2 (DRP2), transcript variant 1, mRNA.	72					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TGGTGCCTCTGGACCCCTGGA	0.522													C	100490945	G	C	100490945	3	2	279	1	0	0	0	0	1	0	0	0	4803	1349	47	4	220	4	DRP2	23	100490945	Missense_Mutation	SNP	G	TCGA-76-6663-01A-11D-1845-08	29666662	100490945	54779615	67	19654											
TBC1D8B	54885	broad.mit.edu	37	chrX	106066520	106066521	+	Frame_Shift_Del	DEL	AG	AG	-																															acttcaaatgtcatactgacAgagagtattcacgtgtgttc																										TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:106066520_106066521delAG	uc004emo.3	+	4	816_817	c.651_652delAG	c.(649-654)acagagfs	p.T217fs	MORC4_uc004emp.4_Intron|TBC1D8B_uc004emm.3_Frame_Shift_Del_p.T217fs|TBC1D8B_uc004emn.3_Frame_Shift_Del_p.T217fs	NM_017752	NP_060222	Q0IIM8	TBC8B_HUMAN	Homo sapiens TBC1 domain family, member 8B (with GRAM domain) (TBC1D8B), transcript variant 1, mRNA.	217						intracellular	calcium ion binding|Rab GTPase activator activity	p.E218fs*21(4)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCATACTGACAGAGAGTATTCA	0.361													-	106066521	AG	-	106066520	7	5	279	1	0	1	0	1	0	0	0	0	15726	175	7	0	669	0	TBC1D8B	23	106066520	Frame_Shift_Del	DEL	AG	TCGA-76-6663-01A-11D-1845-08	5575575	106066520	49204040	68	19655											
MID2	11043	broad.mit.edu	37	chrX	107160962	107160962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaagattggccggggcGccacgaggcaagtgtttgta	8	9	15	9	3	1	1	1	0	0	1	1	2	1	1	2	4	1	4	2	4	3	3			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:107160962G>A	uc004enl.3	+	6	2001	c.1428G>A	c.(1426-1428)gcG>gcA	p.A476A	MID2_uc004enk.3_Intron	NM_012216	NP_036348	Q9UJV3	TRIM1_HUMAN	Homo sapiens midline 2 (MID2), transcript variant 1, mRNA.	476	Fibronectin type-III.					centrosome|microtubule	ligase activity|zinc ion binding	p.A456A(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGGCCGGGGCGCCACGAGGCA	0.483													A	107160962	G	A	107160962	2	1	279	1	0	0	0	0	0	0	0	1	9653	1074	38	1		1	MID2	23	107160962	Silent	SNP	G	TCGA-76-6663-01A-11D-1845-08	1094442	107160962	48109598	69	19656											
ZNF75D	7626	broad.mit.edu	37	chrX	134428042	134428042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggggcttgagcatgaatCcgcgttcagctctctcatcg	6	11	12	12	3	3	2	2	2	1	0	6	2	4	2	1	2	2	4	1	2	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:134428042C>T	uc022ceq.1	-	1	415	c.25G>A	c.(25-27)Gat>Aat	p.D9N	DKFZp451F083_uc004eym.3_Intron|DKFZp451F083_uc022cep.1_Intron|ZNF75D_uc004eyo.3_Missense_Mutation_p.D9N	NM_007131	NP_009062	P51815	ZN75D_HUMAN	Homo sapiens zinc finger protein 75D (ZNF75D), transcript variant 1, mRNA.	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A8T(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						GAGCATGAATCCGCGTTCAGC	0.478													T	134428042	C	T	134428042	3	4	279	1	0	0	0	0	1	0	0	0	18234	855	30	2	1527	2	ZNF75D	23	134428042	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	27267080	134428042	20842518	70	19657											
PDZD4	57595	broad.mit.edu	37	chrX	153069697	153069697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggtgctgcggcagctctccCcagtgttgtaggcgctggtg	3	10	17	11	2	1	0	0	0	1	0	2	0	1	0	2	4	3	6	2	4	1	2			TCGA-76-6663-01A-11D-1845-08	TCGA-76-6663-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	624864ad-3178-4a6d-a0cf-7fa3e9bdf8da	f0474e2a-120a-4bab-ad7e-cc23f09db238	g.chrX:153069697C>G	uc004fja.1	-	7	1689	c.1439G>C	c.(1438-1440)gGg>gCg	p.G480A	PDZD4_uc004fiy.1_Missense_Mutation_p.G399A|PDZD4_uc004fiz.1_Missense_Mutation_p.G474A|PDZD4_uc004fix.2_Missense_Mutation_p.G378A|PDZD4_uc011mze.1_Missense_Mutation_p.G365A|PDZD4_uc022chy.1_5'Flank	NM_032512	NP_115901	Q76G19	PDZD4_HUMAN	Homo sapiens PDZ domain containing 4 (PDZD4), mRNA.	474						cell cortex		p.T480T(1)		breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCTCCCCAGTGTTGTA	0.682													G	153069697	C	G	153069697	3	3	279	1	0	0	0	0	1	0	0	0	11779	623	22	4	892	4	PDZD4	23	153069697	Missense_Mutation	SNP	C	TCGA-76-6663-01A-11D-1845-08	18641655	153069697	2200863	71	19658											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887475	12887475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcttgacccatagaaGgaggcaggtgaggtattcat	10	10	12	9	0	2	3	1	2	1	1	2	4	2	4	2	4	1	3	2	4	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:12887475G>T	uc001auk.2	-	2	578	c.382C>A	c.(382-384)Ctt>Att	p.L128I		NM_001146344	NP_001139816	O60813	PRA11_HUMAN	Homo sapiens PRAME family member 11 (PRAMEF11), mRNA.	128										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ACCCATAGAAGGAGGCAGGTG	0.468													T	12887475	G	T	12887475	3	4	280	1	0	0	0	0	1	0	0	0	12509	1000	35	4	936	4	PRAMEF11	1	12887475	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		12887475	236363146	1	19659											
B4GALT2	8704	broad.mit.edu	37	chr1	44446914	44446914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcacttcctcgtggccGtcatcctctactttgacgtc	4	14	8	15	3	2	1	1	1	1	0	6	1	4	1	3	1	3	2	3	1	1	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:44446914G>A	uc010okl.2	+	1	245	c.169G>A	c.(169-171)Gtc>Atc	p.V57I	B4GALT2_uc001clg.3_Missense_Mutation_p.V28I|B4GALT2_uc001clh.3_5'UTR|B4GALT2_uc001cli.3_Missense_Mutation_p.V28I	NM_030587	NP_085076	O60909	B4GT2_HUMAN	Homo sapiens UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 2 (B4GALT2), transcript variant 1, mRNA.	28					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			N-Acetyl-D-glucosamine(DB00141)	CCTCGTGGCCGTCATCCTCTA	0.662													A	44446914	G	A	44446914	3	1	280	1	0	0	0	0	1	0	0	0	1276	1145	40	1	84	1	B4GALT2	1	44446914	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	31559439	44446914	204803707	2	19660											
PPM1J	333926	broad.mit.edu	37	chr1	113255057	113255057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacttggtggccacgcCgctcccgggccatctgctca	4	8	10	19	3	2	0	1	0	1	0	4	0	4	0	6	3	1	2	6	3	0	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr1:113255057C>T	uc001ect.1	-	3	779	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	PPM1J_uc009wgl.1_Non-coding_Transcript|PPM1J_uc001ecs.1_Missense_Mutation_p.R45Q	NM_005167	NP_005158	Q5JR12	PPM1J_HUMAN	Homo sapiens protein phosphatase, Mg2+/Mn2+ dependent, 1J (PPM1J), mRNA.	251	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTGGCCACGCCGCTCCCGGGC	0.617													T	113255057	C	T	113255057	3	4	280	1	0	0	0	0	1	0	0	0	12424	652	23	1	793	1	PPM1J	1	113255057	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	68808143	113255057	135995564	3	19661											
KCNK3	3777	broad.mit.edu	37	chr2	26950539	26950539	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccactttcccccaggctaCgggcacgcggcacccagcac	7	5	9	20	3	0	0	0	0	0	0	2	0	2	0	4	3	2	4	4	3	1	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:26950539C>T	uc002rhn.2	+	1	451	c.288C>T	c.(286-288)taC>taT	p.Y96Y		NM_002246	NP_002237	O14649	KCNK3_HUMAN	Homo sapiens potassium channel, subfamily K, member 3 (KCNK3), mRNA.	96					synaptic transmission	integral to plasma membrane				endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCCCAGGCTACGGGCACGCGG	0.632													T	26950539	C	T	26950539	2	4	280	1	0	0	0	0	0	0	0	1	8125	547	19	1		1	KCNK3	2	26950539	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		26950539	216248834	4	19662											
DDX18	8886	broad.mit.edu	37	chr2	118587017	118587017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctctgtcatttggtttCaaggtgcctcccttcgttga	4	17	10	10	1	3	1	2	1	1	0	5	1	4	1	2	2	2	4	2	2	1	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr2:118587017C>A	uc002tlh.1	+	12	1944	c.1845C>A	c.(1843-1845)ttC>ttA	p.F615L		NM_006773	NP_006764	Q9NVP1	DDX18_HUMAN	Homo sapiens DEAD (Asp-Glu-Ala-Asp) box polypeptide 18 (DDX18), mRNA.	615							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTTGGTTTCAAGGTGCCTC	0.398													A	118587017	C	A	118587017	3	1	280	1	0	0	0	0	1	0	0	0	4379	825	29	4	1895	4	DDX18	2	118587017	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	91636478	118587017	124612356	5	19663											
UBP1	7342	broad.mit.edu	37	chr3	33454282	33454282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgatgctctgtgtatTgtagccgtctgtcatggaat	6	16	12	7	1	3	1	1	1	2	0	3	2	3	2	1	1	3	5	1	1	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:33454282T>C	uc003cfq.4	-	3	910	c.380A>G	c.(379-381)cAa>cGa	p.Q127R	UBP1_uc003cfr.4_Missense_Mutation_p.Q127R|UBP1_uc010hga.3_Missense_Mutation_p.Q127R	NM_014517	NP_055332	Q9NZI7	UBIP1_HUMAN	Homo sapiens upstream binding protein 1 (LBP-1a) (UBP1), transcript variant 1, mRNA.	127					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.L126L(1)		breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						CTCTGTGTATTGTAGCCGTCT	0.438													C	33454282	T	C	33454282	3	2	280	1	0	0	0	0	1	0	0	0	16997	1812	63	3	1294	3	UBP1	3	33454282	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		33454282	164568148	6	19664											
TMF1	7110	broad.mit.edu	37	chr3	69097485	69097485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcacttcttcttctggtCgttgtgattttgctggaggt	3	21	10	7	1	4	1	1	1	3	0	5	2	4	2	0	3	1	2	0	3	0	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:69097485C>T	uc011bfx.2	-	1	618	c.371G>A	c.(370-372)cGa>cAa	p.R124Q	TMF1_uc003dnn.3_Missense_Mutation_p.R124Q	NM_007114	NP_009045	P82094	TMF1_HUMAN	Homo sapiens TATA element modulatory factor 1 (TMF1), mRNA.	124					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTCTTCTGGTCGTTGTGATTT	0.418													T	69097485	C	T	69097485	3	4	280	1	0	0	0	0	1	0	0	0	16328	884	31	1	2974	1	TMF1	3	69097485	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	35643203	69097485	128924945	7	19665											
IQCG	84223	broad.mit.edu	37	chr3	197616555	197616555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccaccaatttctctccGtatcatagtgcctcgccacc	10	10	5	16	2	2	0	1	0	1	0	5	1	3	0	6	0	2	1	6	0	4	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr3:197616555G>A	uc003fyo.3	-	10	1374	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	IQCG_uc003fyn.3_Missense_Mutation_p.R312W|IQCG_uc003fyp.3_Missense_Mutation_p.R410W	NM_001134435	NP_115639	Q9H095	IQCG_HUMAN	Homo sapiens IQ motif containing G (IQCG), transcript variant 2, mRNA.	410	IQ.									autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		ATTTCTCTCCGTATCATAGTG	0.463													A	197616555	G	A	197616555	3	1	280	1	0	0	0	0	1	0	0	0	7868	1144	40	1	107	1	IQCG	3	197616555	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	128519070	197616555	405875	8	19666											
NPFFR2	10886	broad.mit.edu	37	chr4	72897628	72897628	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagcgggatatgaatagcTtcttcggaaccccagcggcc	9	9	11	12	3	1	1	0	1	1	0	2	3	1	3	3	3	4	1	3	3	5	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr4:72897628T>A	uc003hgg.2	+	0	108	c.10T>A	c.(10-12)Ttc>Atc	p.F4I	NPFFR2_uc010iig.2_5'UTR	NM_004885	NP_444264	Q9Y5X5	NPFF2_HUMAN	Homo sapiens neuropeptide FF receptor 2 (NPFFR2), transcript variant 1, mRNA.	4					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			TATGAATAGCTTCTTCGGAAC	0.562													A	72897628	T	A	72897628	3	1	280	1	0	0	0	0	1	0	0	0	10654	1609	56	5	12	5	NPFFR2	4	72897628	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		72897628	118256648	9	19667											
ROPN1L	83853	broad.mit.edu	37	chr5	10461398	10461398	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttttcctacgtttaccgcTacttggccagattagactca	8	14	7	12	3	1	2	1	0	0	2	2	2	2	2	3	1	3	3	3	1	4	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:10461398T>G	uc021xwo.1	+	4	703	c.520T>G	c.(520-522)Tac>Gac	p.Y174D	ROPN1L_uc003jex.4_Missense_Mutation_p.Y174D	NM_001201466	NP_001188395	Q96C74	ROP1L_HUMAN	Homo sapiens rhophilin associated tail protein 1-like (ROPN1L), transcript variant 2, mRNA.	174					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						CGTTTACCGCTACTTGGCCAG	0.527													G	10461398	T	G	10461398	3	3	280	1	0	0	0	0	1	0	0	0	13616	1522	53	5	534	5	ROPN1L	5	10461398	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08		10461398	170453862	10	19668											
VCAN	1462	broad.mit.edu	37	chr5	82816676	82816676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtttcactgaagatggaGcagatgaatttactcttatt	13	14	8	6	0	2	4	1	2	1	2	2	5	2	5	0	1	2	2	0	1	5	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:82816676G>A	uc003kii.3	+	6	2907	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	VCAN_uc003kij.3_Intron|VCAN_uc010jau.2_Missense_Mutation_p.A851T|VCAN_uc003kik.3_Intron	NM_004385	NP_004376	P13611	CSPG2_HUMAN	Homo sapiens versican (VCAN), transcript variant 1, mRNA.	851	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TGAAGATGGAGCAGATGAATT	0.408													A	82816676	G	A	82816676	3	1	280	1	0	0	0	0	1	0	0	0	17240	971	34	2	2573	2	VCAN	5	82816676	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	72355278	82816676	98098584	11	19669											
ADAMTS2	9509	broad.mit.edu	37	chr5	178555036	178555036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagtcctcttccaggacGttgttgtcgtcgacattcag	8	12	10	11	3	2	1	1	0	1	1	6	3	4	2	2	1	0	2	2	1	0	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr5:178555036G>A	uc003mjw.3	-	16	2643	c.2541C>T	c.(2539-2541)aaC>aaT	p.N847N		NM_014244	NP_055059	O95450	ATS2_HUMAN	Homo sapiens ADAM metallopeptidase with thrombospondin type 1 motif, 2 (ADAMTS2), transcript variant 1, mRNA.	847	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N847N(2)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTTCCAGGACGTTGTTGTCGT	0.587													A	178555036	G	A	178555036	2	1	280	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178555036	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	95738360	178555036	2360224	12	19670											
OR2B6	26212	broad.mit.edu	37	chr6	27925491	27925491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttttagtaactcagtgtGgttgtctaccctgactctcc	6	16	9	10	0	3	1	1	1	2	0	4	1	3	1	2	2	2	3	2	2	3	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:27925491G>T	uc011dkx.2	+	0	473	c.473G>T	c.(472-474)tGg>tTg	p.W158L		NM_012367	NP_036499	P58173	OR2B6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily B, member 6 (OR2B6), mRNA.	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACTCAGTGTGGTTGTCTACC	0.493													T	27925491	G	T	27925491	3	4	280	1	0	0	0	0	1	0	0	0	11067	1357	47	4	475	4	OR2B6	6	27925491	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		27925491	143189576	13	19671											
APOBEC2	10930	broad.mit.edu	37	chr6	41029317	41029317	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatgtgtcctccagccccTgtgcagcgtgtgctgaccgc	4	10	13	14	2	0	1	0	1	0	0	2	1	2	1	5	1	4	3	5	1	1	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:41029317T>C	uc003opl.3	+	1	529	c.382T>C	c.(382-384)Tgt>Cgt	p.C128R	UNC5CL_uc010jxe.1_Intron|APOBEC2_uc010jxf.3_Non-coding_Transcript	NM_006789	NP_006780	Q9Y235	ABEC2_HUMAN	Homo sapiens apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2 (APOBEC2), mRNA.	128					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					CTCCAGCCCCTGTGCAGCGTG	0.572													C	41029317	T	C	41029317	3	2	280	1	0	0	0	0	1	0	0	0	791	1580	55	3	388	3	APOBEC2	6	41029317	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08	13103826	41029317	130085750	14	19672											
PNLDC1	154197	broad.mit.edu	37	chr6	160240043	160240043	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcctcagcgtcaaaaggtgGcctggggtcagcgagcagca	10	6	14	11	2	3	0	3	0	0	0	4	1	4	0	2	4	4	2	2	4	2	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr6:160240043G>A	uc003qsy.1	+	16	1362	c.1323G>A	c.(1321-1323)tgG>tgA	p.W441*	PNLDC1_uc003qsx.1_Nonsense_Mutation_p.W430*	NM_173516	NP_775787	Q8NA58	PNDC1_HUMAN	Homo sapiens poly(A)-specific ribonuclease (PARN)-like domain containing 1 (PNLDC1), mRNA.	430						integral to membrane|nucleus	nucleic acid binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		TCAAAAGGTGGCCTGGGGTCA	0.463													A	160240043	G	A	160240043	4	1	280	1	0	0	0	0	0	1	0	0	12225	1212	42	2	1352	2	PNLDC1	6	160240043	Nonsense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	119210726	160240043	10875024	15	19673											
PRPS1L1	221823	broad.mit.edu	37	chr7	18066638	18066638	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgatgcgagaaatggcTgggccagaaaagattccatg	12	9	14	6	1	0	4	0	1	0	3	1	5	1	4	2	2	1	2	2	2	3	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:18066638T>A	uc003stz.3	-	0	849	c.768A>T	c.(766-768)ccA>ccT	p.P256P		NM_175886	NP_787082	P21108	PRPS3_HUMAN	Homo sapiens phosphoribosyl pyrophosphate synthetase 1-like 1 (PRPS1L1), mRNA.	256					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GAGAAATGGCTGGGCCAGAAA	0.448													A	18066638	T	A	18066638	2	1	280	1	0	0	0	0	0	0	0	1	12665	1567	55	5		5	PRPS1L1	7	18066638	Silent	SNP	T	TCGA-76-6664-01A-11D-1845-08		18066638	141072025	16	19674											
SAMD9	54809	broad.mit.edu	37	chr7	92730646	92730646	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaatatcaggctcttaaaCaatttcaatgtcataagcaa	18	11	5	7	0	4	1	3	0	1	1	4	1	4	1	0	1	2	2	0	1	9	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr7:92730646C>G	uc003umf.3	-	2	5035	c.4765G>C	c.(4765-4767)Gtt>Ctt	p.V1589L	SAMD9_uc003umg.3_Missense_Mutation_p.V1589L|SAMD9_uc022ahg.1_Missense_Mutation_p.V1589L	NM_017654	NP_060124	Q5K651	SAMD9_HUMAN	Homo sapiens sterile alpha motif domain containing 9 (SAMD9), transcript variant 1, mRNA.	1589						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			GGCTCTTAAACAATTTCAATG	0.378													G	92730646	C	G	92730646	3	3	280	1	0	0	0	0	1	0	0	0	13917	478	17	4	8	4	SAMD9	7	92730646	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	74664008	92730646	66408017	17	19675											
EGR3	1960	broad.mit.edu	37	chr8	22550311	22550311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcccttacctgtagcCatctgattgtaatggactac	8	11	8	14	2	1	1	0	1	1	0	1	2	1	2	5	1	3	2	5	1	4	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:22550311C>T	uc003xcm.1	-	0	505	c.147G>A	c.(145-147)atG>atA	p.M49I	EGR3_uc011kzn.1_5'Flank|EGR3_uc011kzo.2_5'Flank	NM_004430	NP_001186810	Q06889	EGR3_HUMAN	Homo sapiens early growth response 3 (EGR3), transcript variant 1, mRNA.	49					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TACCTGTAGCCATCTGATTGT	0.602													T	22550311	C	T	22550311	3	4	280	1	0	0	0	0	1	0	0	0	5012	594	21	2	1024	2	EGR3	8	22550311	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		22550311	123813711	18	19676											
CNGB3	54714	broad.mit.edu	37	chr8	87666239	87666239	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgaaattgtttgtcacctaCctgaaattttgtagaagtcc	11	16	7	7	0	1	3	1	2	0	1	2	3	2	3	3	0	1	2	3	0	5	7			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:87666239C>T	uc003ydx.3	-	7	951	c.903_splice	c.e7+1	p.Q301_splice	CNGB3_uc010maj.3_Splice_Site_p.Q163_splice	NM_019098	NP_061971	Q9NQW8	CNGB3_HUMAN	Homo sapiens cyclic nucleotide gated channel beta 3 (CNGB3), mRNA.	301					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TTGTCACCTACCTGAAATTTT	0.303													T	87666239	C	T	87666239	5	4	280	1	0	0	0	0	0	0	1	0	3632	521	18	2	1573	2	CNGB3	8	87666239	Splice_Site	SNP	C	TCGA-76-6664-01A-11D-1845-08	65115928	87666239	58697783	19	19677											
RGS22	26166	broad.mit.edu	37	chr8	101065160	101065160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatttcagttcagcactaGcatattttgttgaggctgaa	12	14	9	6	0	2	3	2	2	0	1	2	3	2	3	0	1	2	5	0	1	4	7			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr8:101065160G>A	uc003yjb.1	-	9	1754	c.1559C>T	c.(1558-1560)gCt>gTt	p.A520V	RGS22_uc003yja.1_Missense_Mutation_p.A339V|RGS22_uc003yjc.1_Missense_Mutation_p.A508V|RGS22_uc011lgz.1_Non-coding_Transcript|RGS22_uc010mbo.1_Non-coding_Transcript|RGS22_uc022azh.1_Missense_Mutation_p.A424V	NM_015668	NP_056483	Q8NE09	RGS22_HUMAN	Homo sapiens regulator of G-protein signaling 22 (RGS22), mRNA.	520					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TTCAGCACTAGCATATTTTGT	0.393													A	101065160	G	A	101065160	3	1	280	1	0	0	0	0	1	0	0	0	13394	971	34	2	2307	2	RGS22	8	101065160	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	13398921	101065160	45298862	20	19678											
DMRT3	58524	broad.mit.edu	37	chr9	990870	990870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccgtccttcctgcccgCgccacggaagaccctcggat	5	7	10	19	6	0	1	0	0	0	1	4	3	2	3	6	2	1	0	6	2	1	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:990870C>T	uc003zgw.1	+	1	1322	c.1284C>T	c.(1282-1284)cgC>cgT	p.R428R		NM_021240	NP_067063	Q9NQL9	DMRT3_HUMAN	Homo sapiens doublesex and mab-3 related transcription factor 3 (DMRT3), mRNA.	428					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	p.R428C(2)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TTCCTGCCCGCGCCACGGAAG	0.552													T	990870	C	T	990870	2	4	280	1	0	0	0	0	0	0	0	1	4626	755	27	1		1	DMRT3	9	990870	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		990870	140222561	21	19679											
GAPVD1	26130	broad.mit.edu	37	chr9	128092422	128092422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcagggtcagtgcttcttGacccctgcactggttctacc	5	13	10	13	0	4	1	2	1	2	0	4	1	4	1	3	2	3	4	3	2	1	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr9:128092422G>A	uc004bpp.3	+	10	2258	c.2098G>A	c.(2098-2100)Gac>Aac	p.D700N	GAPVD1_uc011lzs.1_Missense_Mutation_p.D700N|GAPVD1_uc004bpq.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwx.3_Missense_Mutation_p.D700N|GAPVD1_uc004bpr.3_Missense_Mutation_p.D679N|GAPVD1_uc004bps.3_Missense_Mutation_p.D700N|GAPVD1_uc010mwy.1_Missense_Mutation_p.D559N	NM_015635	NP_056450	Q14C86	GAPD1_HUMAN	Homo sapiens GTPase activating protein and VPS9 domains 1 (GAPVD1), mRNA.	700					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity	p.L699V(1)		central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						AGTGCTTCTTGACCCCTGCAC	0.478													A	128092422	G	A	128092422	3	1	280	1	0	0	0	0	1	0	0	0	6293	1290	45	2	2136	2	GAPVD1	9	128092422	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	127101552	128092422	13121009	22	19680											
PTEN	5728	broad.mit.edu	37	chr10	89692768	89692768	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggttatctttttaccacAgttgcacaatatccttttga	10	17	6	8	0	1	2	0	2	1	0	2	2	2	2	2	1	2	3	2	1	4	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr10:89692768A>C	uc001kfb.3	+	5	1286	c.254_splice	c.e5-2	p.V85_splice	PTEN_uc021pvw.1_Splice_Site	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	85	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.C71fs*6(2)|p.Y27fs*1(2)|p.N82_P95del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTTTTACCACAGTTGCACAAT	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89692768	A	C	89692768	5	2	280	1	0	0	0	0	0	0	1	0	12823	202	7	5	270	5	PTEN	10	89692768	Splice_Site	SNP	A	TCGA-76-6664-01A-11D-1845-08		89692768	45841979	23	19681											
FAM181B	220382	broad.mit.edu	37	chr11	82443599	82443599	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgctgtaatcgtaggaCacctgatggggcggcggcgg	6	6	17	12	6	0	1	0	1	0	0	1	2	0	2	2	6	0	3	2	6	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:82443599C>T	uc001ozp.3	-	0	1308	c.1173G>A	c.(1171-1173)gtG>gtA	p.V391V		NM_175885	NP_787081	A6NEQ2	F181B_HUMAN	Homo sapiens family with sequence similarity 181, member B (FAM181B), mRNA.	391										large_intestine(1)|lung(2)|prostate(1)	4						AATCGTAGGACACCTGATGGG	0.706													T	82443599	C	T	82443599	2	4	280	1	0	0	0	0	0	0	0	1	5555	465	17	2		2	FAM181B	11	82443599	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		82443599	52562917	24	19682											
NOX4	50507	broad.mit.edu	37	chr11	89073229	89073229	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagaaccaaccctaatgttAccttgttatgcaacatacag	14	11	5	11	0	0	1	0	0	0	1	0	1	0	1	3	0	6	3	3	0	8	6			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:89073229A>T	uc001pct.3	-	15	1685	c.1446_splice	c.e15+1	p.K482_splice	NOX4_uc009yvr.3_Splice_Site_p.K457_splice|NOX4_uc001pcu.3_Splice_Site_p.K408_splice|NOX4_uc001pcw.3_Splice_Site_p.K175_splice|NOX4_uc001pcx.3_Splice_Site_p.K135_splice|NOX4_uc001pcv.3_Splice_Site_p.K442_splice|NOX4_uc009yvo.3_Splice_Site|NOX4_uc010rtu.2_Intron|NOX4_uc009yvp.3_Splice_Site_p.K246_splice|NOX4_uc010rtv.2_Splice_Site_p.K418_splice|NOX4_uc009yvq.3_Splice_Site_p.K458_splice	NM_016931	NP_001137309	Q9NPH5	NOX4_HUMAN	Homo sapiens NADPH oxidase 4 (NOX4), transcript variant 1, mRNA.	482	Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCCTAATGTTACCTTGTTATG	0.318													T	89073229	A	T	89073229	5	4	280	1	0	0	0	0	0	0	1	0	10634	405	14	5	304	5	NOX4	11	89073229	Splice_Site	SNP	A	TCGA-76-6664-01A-11D-1845-08	6629630	89073229	45933287	25	19683											
ANGPTL5	253935	broad.mit.edu	37	chr11	101762058	101762058	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaattttcattgaaacagaTttaatcttgacaggtgagtt	13	16	7	5	0	2	4	1	3	1	1	2	4	2	4	0	1	1	1	0	1	3	8			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:101762058T>A	uc001pgl.3	-	8	1715	c.1119A>T	c.(1117-1119)aaA>aaT	p.K373N		NM_178127	NP_835228	Q86XS5	ANGL5_HUMAN	Homo sapiens angiopoietin-like 5 (ANGPTL5), mRNA.	373	Fibrinogen C-terminal.				signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		TTGAAACAGATTTAATCTTGA	0.303													A	101762058	T	A	101762058	3	1	280	1	0	0	0	0	1	0	0	0	617	1490	52	5	51	5	ANGPTL5	11	101762058	Missense_Mutation	SNP	T	TCGA-76-6664-01A-11D-1845-08	12688829	101762058	33244458	26	19684											
MMP1	4312	broad.mit.edu	37	chr11	102663372	102663372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatctctgtcggcaaattCgtaagcagcttcaagcccat	10	12	7	12	2	3	0	2	0	1	0	6	0	3	0	1	1	3	4	1	1	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr11:102663372C>T	uc001phi.2	-	6	1140	c.997G>A	c.(997-999)Gaa>Aaa	p.E333K	LOC100288077_uc001phh.1_Intron|MMP1_uc010ruv.1_Missense_Mutation_p.E267K	NM_002421	NP_001139410	P03956	MMP1_HUMAN	Homo sapiens matrix metallopeptidase 1 (interstitial collagenase) (MMP1), transcript variant 1, mRNA.	333	Hemopexin-like 2.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		TCGGCAAATTCGTAAGCAGCT	0.403													T	102663372	C	T	102663372	3	4	280	1	0	0	0	0	1	0	0	0	9723	893	31	1	428	1	MMP1	11	102663372	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	901314	102663372	32343144	27	19685											
IPO8	10526	broad.mit.edu	37	chr12	30809654	30809654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacaagatcaatgatccGtagacagatattctctaact	16	10	6	9	1	2	5	1	1	1	4	4	5	3	5	1	0	2	1	1	0	6	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:30809654G>A	uc001rjd.3	-	16	2260	c.1912C>T	c.(1912-1914)Cgg>Tgg	p.R638W	IPO8_uc010sjt.2_Missense_Mutation_p.R433W|IPO8_uc001rje.1_Missense_Mutation_p.R127W	NM_006390	NP_006381	O15397	IPO8_HUMAN	Homo sapiens importin 8 (IPO8), transcript variant 1, mRNA.	638					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAATGATCCGTAGACAGATA	0.234													A	30809654	G	A	30809654	3	1	280	1	0	0	0	0	1	0	0	0	7856	1144	40	1	1237	1	IPO8	12	30809654	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		30809654	103042241	28	19686											
ZBTB39	9880	broad.mit.edu	37	chr12	57396685	57396685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttgctcatgaggttaaGggtggaactgtagtgcccac	9	12	13	7	0	1	1	1	1	0	0	1	2	1	2	1	3	3	4	1	3	3	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr12:57396685G>T	uc001sml.2	-	1	2170	c.2017C>A	c.(2017-2019)Ctt>Att	p.L673I	ZBTB39_uc021qzg.1_Missense_Mutation_p.L673I	NM_014830	NP_055645	O15060	ZBT39_HUMAN	Homo sapiens zinc finger and BTB domain containing 39 (ZBTB39), mRNA.	673					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGAGGTTAAGGGTGGAACTG	0.542													T	57396685	G	T	57396685	3	4	280	1	0	0	0	0	1	0	0	0	17641	1000	35	4	125	4	ZBTB39	12	57396685	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	26587031	57396685	76455210	29	19687											
STARD13	90627	broad.mit.edu	37	chr13	33685935	33685935	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaaaagtctgtcgcattCcatgatcatgtgcgctagcc	10	11	8	12	2	3	1	2	1	1	0	5	1	4	1	2	0	2	2	2	0	3	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:33685935C>A	uc001uuw.3	-	9	2713	c.2587G>T	c.(2587-2589)Gaa>Taa	p.E863*	STARD13_uc001uuu.3_Nonsense_Mutation_p.E855*|STARD13_uc001uuv.3_Nonsense_Mutation_p.E745*|STARD13_uc001uux.3_Nonsense_Mutation_p.E828*	NM_178006	NP_443083	Q9Y3M8	STA13_HUMAN	Homo sapiens StAR-related lipid transfer (START) domain containing 13 (STARD13), transcript variant 1, mRNA.	863	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CTGTCGCATTCCATGATCATG	0.478													A	33685935	C	A	33685935	4	1	280	1	0	0	0	0	0	1	0	0	15352	864	30	4	774	4	STARD13	13	33685935	Nonsense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		33685935	81483943	30	19688											
SLC15A1	6564	broad.mit.edu	37	chr13	99337143	99337143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacagacgaccagaagcaaCgcggcaaatagaatgtactc	17	4	9	11	3	0	3	0	0	0	3	1	4	0	3	1	1	3	3	1	1	6	2	rs143994270	by1000genomes	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr13:99337143C>T	uc001vno.3	-	22	2039	c.1962G>A	c.(1960-1962)gcG>gcA	p.A654A		NM_005073	NP_005064	P46059	S15A1_HUMAN	Homo sapiens solute carrier family 15 (oligopeptide transporter), member 1 (SLC15A1), mRNA.	654					digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CCAGAAGCAACGCGGCAAATA	0.418													T	99337143	C	T	99337143	2	4	280	1	0	0	0	0	0	0	0	1	14492	523	19	1		1	SLC15A1	13	99337143	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	65651208	99337143	15832735	31	19689											
ASB2	51676	broad.mit.edu	37	chr14	94419793	94419793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccaggtggcccctgcacGttgccaagtaaacggctgtt	8	9	12	12	2	0	0	0	0	0	0	1	0	1	0	4	3	3	5	4	3	3	3	rs113529772		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:94419793G>A	uc001ycd.3	-	4	909	c.539C>T	c.(538-540)aCg>aTg	p.T180M	ASB2_uc001ycc.2_Missense_Mutation_p.T132M|ASB2_uc001yce.1_Missense_Mutation_p.T78M	NM_001202429	NP_001189358	Q96Q27	ASB2_HUMAN	Homo sapiens ankyrin repeat and SOCS box containing 2 (ASB2), transcript variant 1, mRNA.	132					intracellular signal transduction			p.T132R(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GCCCCTGCACGTTGCCAAGTA	0.587													A	94419793	G	A	94419793	3	1	280	1	0	0	0	0	1	0	0	0	1028	1145	40	1	1392	1	ASB2	14	94419793	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		94419793	12929747	32	19690											
JAG2	3714	broad.mit.edu	37	chr14	105622189	105622189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaacttgttgcaagtggCgctgtagtagttctcgtcgc	7	12	13	9	3	1	1	0	0	1	1	3	1	1	1	0	1	2	7	0	1	4	5			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr14:105622189C>T	uc001yqg.3	-	3	1017	c.613G>A	c.(613-615)Gcc>Acc	p.A205T	JAG2_uc001yqh.3_Missense_Mutation_p.A205T	NM_002226	NP_002217	Q9Y219	JAG2_HUMAN	Homo sapiens jagged 2 (JAG2), transcript variant 1, mRNA.	205	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGCAAGTGGCGCTGTAGTAG	0.627													T	105622189	C	T	105622189	3	4	280	1	0	0	0	0	1	0	0	0	7993	768	27	1	3195	1	JAG2	14	105622189	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	11202396	105622189	1727351	33	19691											
AQR	9716	broad.mit.edu	37	chr15	35193048	35193048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtattcatcaggttccgaAtagtctccagcacagcctgt	10	11	8	12	1	3	0	2	0	1	0	5	1	4	0	3	1	2	3	3	1	3	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:35193048A>G	uc001ziv.3	-	19	2199	c.2018T>C	c.(2017-2019)aTt>aCt	p.I673T		NM_014691	NP_055506	O60306	AQR_HUMAN	Homo sapiens aquarius homolog (mouse) (AQR), mRNA.	673						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		CAGGTTCCGAATAGTCTCCAG	0.448													G	35193048	A	G	35193048	3	3	280	1	0	0	0	0	1	0	0	0	838	101	4	3	2503	3	AQR	15	35193048	Missense_Mutation	SNP	A	TCGA-76-6664-01A-11D-1845-08		35193048	67338344	34	19692											
THBS1	7057	broad.mit.edu	37	chr15	39879564	39879564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagcgactctgcggaCgatggctggtctccatggtc	6	8	14	13	3	2	0	0	0	2	0	4	3	2	1	2	4	3	2	2	4	0	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:39879564C>T	uc001zkh.3	+	7	1316	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	THBS1_uc010bbi.3_5'Flank	NM_003246	NP_003237	P07996	TSP1_HUMAN	Homo sapiens thrombospondin 1 (THBS1), mRNA.	379	TSP type-1 1.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACTCTGCGGACGATGGCTGGT	0.567													T	39879564	C	T	39879564	2	4	280	1	0	0	0	0	0	0	0	1	15953	535	19	1		1	THBS1	15	39879564	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	4686516	39879564	62651828	35	19693											
SPTBN5	51332	broad.mit.edu	37	chr15	42164092	42164092	+	Frame_Shift_Del	DEL	A	A	-																															tcaggaactcatgcagcctcAgggtcccctccagttcccgg																										TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr15:42164092delA	uc001zos.3	-	27	5417	c.5084delT	c.(5083-5085)ctgfs	p.L1695fs		NM_016642	NP_057726	Q9NRC6	SPTN5_HUMAN	Homo sapiens spectrin, beta, non-erythrocytic 5 (SPTBN5), mRNA.	1730					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ATGCAGCCTCAGGGTCCCCTC	0.677													-	42164092	A	-	42164092	7	5	280	1	0	1	0	1	0	0	0	0	15218	188	7	0	5999	0	SPTBN5	15	42164092	Frame_Shift_Del	DEL	A	TCGA-76-6664-01A-11D-1845-08	2284528	42164092	60367300	36	19694											
ITFG3	83986	broad.mit.edu	37	chr16	315018	315018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggtaccagagtgaggcGtagaggcacgccagccagag	10	4	16	11	3	0	4	0	1	0	3	0	4	0	4	3	3	3	3	3	3	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:315018G>A	uc002cgf.3	+	12	1851	c.1656G>A	c.(1654-1656)gcG>gcA	p.A552A	LUC7L_uc021szo.1_Intron|ITFG3_uc002cgg.2_Intron|ITFG3_uc010uud.1_Intron|ITFG3_uc002cgh.3_Silent_p.A552A	NM_032039	NP_114428	Q9H0X4	ITFG3_HUMAN	Homo sapiens integrin alpha FG-GAP repeat containing 3 (ITFG3), mRNA.	552						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				AGAGTGAGGCGTAGAGGCACG	0.647													A	315018	G	A	315018	2	1	280	1	0	0	0	0	0	0	0	1	7929	1132	40	1		1	ITFG3	16	315018	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08		315018	90039735	37	19695											
PTX4	390667	broad.mit.edu	37	chr16	1537647	1537647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacgaggccctccaggcGtgccagtgagtcctgcaggg	6	6	17	12	2	0	1	0	1	0	0	2	3	2	2	4	4	2	1	4	4	0	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:1537647G>A	uc010uvf.2	-	1	451	c.451C>T	c.(451-453)Cgc>Tgc	p.R151C		NM_001013658	NP_001013680	Q96A99	PTX4_HUMAN	Homo sapiens pentraxin 4, long (PTX4), mRNA.	156						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCCTCCAGGCGTGCCAGTGAG	0.741													A	1537647	G	A	1537647	3	1	280	1	0	0	0	0	1	0	0	0	12911	1145	40	1	977	1	PTX4	16	1537647	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	1222629	1537647	88817106	38	19696											
CIITA	4261	broad.mit.edu	37	chr16	10997663	10997663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcccaacatctccagaccGgccaggctccaccagcccct	8	5	6	22	1	1	1	0	0	1	1	4	1	3	1	9	2	2	1	9	2	1	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:10997663G>A	uc002daj.4	+	8	984	c.851G>A	c.(850-852)cGg>cAg	p.R284Q	CIITA_uc002dai.4_Missense_Mutation_p.R283Q|CIITA_uc002dak.4_Missense_Mutation_p.R234Q|CIITA_uc002dag.2_Missense_Mutation_p.R283Q|CIITA_uc002dah.2_Missense_Mutation_p.R235Q|CIITA_uc010bup.1_Missense_Mutation_p.R283Q	NM_000246	NP_000237	P33076	C2TA_HUMAN	Homo sapiens class II, major histocompatibility complex, transactivator (CIITA), mRNA.	283					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						TCTCCAGACCGGCCAGGCTCC	0.627			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								A	10997663	G	A	10997663	3	1	280	1	0	0	0	0	1	0	0	0	3458	1116	39	1	882	1	CIITA	16	10997663	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	9460016	10997663	79357090	39	19697											
ERN2	10595	broad.mit.edu	37	chr16	23718095	23718095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcggccaatgtagaggCggggggtggagggaccctct	6	8	19	8	2	1	1	0	0	1	1	2	3	1	3	2	7	0	2	2	7	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:23718095C>T	uc002dma.4	-	5	780	c.611G>A	c.(610-612)cGc>cAc	p.R204H	ERN2_uc010bxp.3_Missense_Mutation_p.R204H|ERN2_uc010bxq.1_Missense_Mutation_p.R12H	NM_033266	NP_150296	Q76MJ5	ERN2_HUMAN	Homo sapiens endoplasmic reticulum to nucleus signaling 2 (ERN2), mRNA.	156					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AATGTAGAGGCGGGGGGTGGA	0.607													T	23718095	C	T	23718095	3	4	280	1	0	0	0	0	1	0	0	0	5279	768	27	1	2381	1	ERN2	16	23718095	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	12720432	23718095	66636658	40	19698											
C16orf82	162083	broad.mit.edu	37	chr16	27078770	27078770	+	Frame_Shift_Del	DEL	G	G	-																															acagcaccaagcagactggaGggaaagagtgaggccagcct																										TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr16:27078770delG	uc010vcm.2	+	0	552	c.451delG	c.(451-453)gggfs	p.G151fs		NM_001145545	NP_001139017	Q7Z2V1	TNT_HUMAN	Homo sapiens chromosome 16 open reading frame 82 (C16orf82), mRNA.	215																	GCAGACTGGAGGGAAAGAGTG	0.652													-	27078770	G	-	27078770	7	5	280	1	0	1	0	1	0	0	0	0	1852	1000	35	0	456	0	C16orf82	16	27078770	Frame_Shift_Del	DEL	G	TCGA-76-6664-01A-11D-1845-08	3360675	27078770	63275983	41	19699											
PHF23	79142	broad.mit.edu	37	chr17	7139423	7139423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcagggggtgttggcaGcacagggactggggcttcac	7	7	17	10	0	2	0	2	0	0	0	2	1	2	1	1	6	2	4	1	6	0	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7139423G>A	uc002gfa.3	-	3	1050	c.823C>T	c.(823-825)Ctg>Ttg	p.L275L	DVL2_uc002gez.1_5'Flank|DVL2_uc010vtr.1_5'Flank|DVL2_uc010clz.1_5'Flank|PHF23_uc010vtt.2_Silent_p.L208L|PHF23_uc010cma.3_Silent_p.L145L	NM_024297	NP_077273	Q9BUL5	PHF23_HUMAN	Homo sapiens PHD finger protein 23 (PHF23), mRNA.	275							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GGTGTTGGCAGCACAGGGACT	0.587													A	7139423	G	A	7139423	2	1	280	1	0	0	0	0	0	0	0	1	11912	962	34	2		2	PHF23	17	7139423	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08		7139423	74055787	42	19700											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:7577539G>A	uc002gim.2	-	6	936	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_uc002gig.1_Missense_Mutation_p.R248W|TP53_uc002gih.3_Missense_Mutation_p.R248W|TP53_uc010cne.1_5'Flank|TP53_uc010cng.1_Missense_Mutation_p.R116W|TP53_uc010cnf.1_Missense_Mutation_p.R116W|TP53_uc002gii.1_Missense_Mutation_p.R116W|TP53_uc010cni.1_Missense_Mutation_p.R248W|TP53_uc010cnh.1_Missense_Mutation_p.R248W|TP53_uc002gij.2_Missense_Mutation_p.R248W|TP53_uc010cnj.1_Non-coding_Transcript|TP53_uc002gin.2_Missense_Mutation_p.R155W|TP53_uc002gio.2_Missense_Mutation_p.R116W|DL476309_uc021tpg.1_5'Flank|DL476358_uc021tph.1_5'Flank	NM_001126112	NP_001119587	P04637	P53_HUMAN	Homo sapiens tumor protein p53 (TP53), transcript variant 2, mRNA.	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(1057)|p.R248Q(565)|p.R248L(70)|p.R155W(28)|p.R248G(24)|p.R248P(16)|p.R248R(12)|p.N247N(10)|p.0?(8)|p.N247S(7)|p.N247D(5)|p.?(5)|p.M246_P250delMNRRP(4)|p.N247_R248>KW(4)|p.N247_R248delNR(4)|p.N247T(4)|p.R248fs*97(4)|p.N247I(3)|p.N247Y(3)|p.R248fs*16(3)|p.N247_P250delNRRP(2)|p.N247K(2)|p.R248_P250delRRP(2)|p.N247_R249delNRR(2)|p.R248C(2)|p.N247_R248>IP(2)|p.R248fs*>39(1)|p.unknown(1)|p.N247F(1)|p.N247fs*98(1)|p.R248Y(1)|p.G245fs*14(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	280	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	438116	7577539	73617671	43	19701											
MYH1	4619	broad.mit.edu	37	chr17	10398535	10398535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggccttcttggccttctCttctgcattgcgggcttcct	2	16	10	13	1	3	0	0	0	3	0	5	1	4	0	3	3	2	2	3	3	0	6			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:10398535C>G	uc002gmo.3	-	35	5363	c.5269G>C	c.(5269-5271)Gag>Cag	p.E1757Q	AK097500_uc002gml.1_Intron	NM_005963	NP_005954	P12882	MYH1_HUMAN	Homo sapiens myosin, heavy chain 1, skeletal muscle, adult (MYH1), mRNA.	1757						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTGGCCTTCTCTTCTGCATTG	0.473													G	10398535	C	G	10398535	3	3	280	1	0	0	0	0	1	0	0	0	10105	922	32	4	570	4	MYH1	17	10398535	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	2820996	10398535	70796675	44	19702											
KRT14	3861	broad.mit.edu	37	chr17	39742796	39742796	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaccaccaaagccaccAcccaagccagcaccaaggcc	15	0	6	20	0	0	0	0	0	0	0	0	0	0	0	9	1	4	1	9	1	4	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr17:39742796A>C	uc002hxf.2	-	0	352	c.291T>G	c.(289-291)ggT>ggG	p.G97G	JUP_uc010wfs.2_Intron	NM_000526	NP_000517	P02533	K1C14_HUMAN	Homo sapiens keratin 14 (KRT14), mRNA.	97	Head.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				caaagccaccacccaagccag	0.622													C	39742796	A	C	39742796	2	2	280	1	0	0	0	0	0	0	0	1	8509	146	6	5		5	KRT14	17	39742796	Silent	SNP	A	TCGA-76-6664-01A-11D-1845-08	29344261	39742796	41452414	45	19703											
MIER2	54531	broad.mit.edu	37	chr19	313632	313632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccagagcagctggtcttCgttctcgtagactgcacaag	8	10	11	12	2	2	2	0	0	2	2	5	2	3	2	1	1	3	5	1	1	2	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:313632C>T	uc002lok.1	-	7	676	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_017550	NP_060020	Q8N344	MIER2_HUMAN	Homo sapiens mesoderm induction early response 1, family member 2 (MIER2), mRNA.	223	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		AGCTGGTCTTCGTTCTCGTAG	0.622													T	313632	C	T	313632	3	4	280	1	0	0	0	0	1	0	0	0	9656	893	31	1	998	1	MIER2	19	313632	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		313632	58815351	46	19704											
MUC16	94025	broad.mit.edu	37	chr19	9089511	9089511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtcatggaggaaagaacGgctgagctgggctttgtctt	9	10	16	6	1	2	2	1	1	1	1	2	4	2	4	0	5	2	3	0	5	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:9089511G>A	uc002mkp.3	-	0	2508	c.2304C>T	c.(2302-2304)gcC>gcT	p.A768A		NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN	Homo sapiens mucin 16, cell surface associated (MUC16), mRNA.	768	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A768A(3)		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						AGGAAAGAACGGCTGAGCTGG	0.483													A	9089511	G	A	9089511	2	1	280	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC16	19	9089511	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	8775879	9089511	50039472	47	19705											
DCAF15	90379	broad.mit.edu	37	chr19	14071180	14071180	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtcagtgtaggcgacctGactgaggtcaaagggcagac	12	6	14	9	1	2	3	2	2	0	1	2	4	2	3	1	3	0	2	1	3	2	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr19:14071180G>C	uc002mxt.3	+	10	1614	c.1608G>C	c.(1606-1608)ctG>ctC	p.L536L	DCAF15_uc002mxu.3_Non-coding_Transcript	NM_138353	NP_612362	Q66K64	DCA15_HUMAN	Homo sapiens DDB1 and CUL4 associated factor 15 (DCAF15), mRNA.	536										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TAGGCGACCTGACTGAGGTCA	0.637											OREG0025301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	14071180	G	C	14071180	2	2	280	1	0	0	0	0	0	0	0	1	4301	1277	45	4		4	DCAF15	19	14071180	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	4981669	14071180	45057803	48	19706											
XRN2	22803	broad.mit.edu	37	chr20	21367621	21367621	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgggtatccacccagaCgagatgatcgtggagggaga	10	7	16	8	2	0	4	0	1	0	3	2	7	1	5	2	4	0	1	2	4	1	1			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:21367621C>A	uc002wsf.1	+	28	2859	c.2764C>A	c.(2764-2766)Cga>Aga	p.R922R	XRN2_uc002wsg.1_Silent_p.R846R|XRN2_uc010zsk.1_Silent_p.R868R|XRN2_uc002wsh.1_Silent_p.R60R	NM_012255	NP_036387	Q9H0D6	XRN2_HUMAN	Homo sapiens 5'-3' exoribonuclease 2 (XRN2), mRNA.	922					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TCCACCCAGACGAGATGATCG	0.502													A	21367621	C	A	21367621	2	1	280	1	0	0	0	0	0	0	0	1	17562	528	19	4		4	XRN2	20	21367621	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08		21367621	41657899	49	19707											
MMP9	4318	broad.mit.edu	37	chr20	44639885	44639885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccgacggtcgctccgaCggcttgccctggtgcagtac	6	7	12	16	5	0	0	0	0	0	0	2	2	1	0	4	3	3	4	4	3	1	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:44639885C>T	uc002xqz.3	+	4	772	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_004994	NP_004985	P14780	MMP9_HUMAN	Homo sapiens matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase) (MMP9), mRNA.	251	Fibronectin type-II 1.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GTCGCTCCGACGGCTTGCCCT	0.657													T	44639885	C	T	44639885	2	4	280	1	0	0	0	0	0	0	0	1	9745	535	19	1		1	MMP9	20	44639885	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	23272264	44639885	18385635	50	19708											
ARFGEF2	10564	broad.mit.edu	37	chr20	47639713	47639713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagagcacatggttgccGcccaggtaagaacaggaggc	12	5	14	10	1	0	2	0	0	0	2	0	3	0	3	2	4	4	4	2	4	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:47639713G>A	uc002xtx.4	+	34	4902	c.4750G>A	c.(4750-4752)Gcc>Acc	p.A1584T	ARFGEF2_uc010zyf.2_Missense_Mutation_p.A877T	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	Homo sapiens ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited) (ARFGEF2), mRNA.	1584					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CATGGTTGCCGCCCAGGTAAG	0.517													A	47639713	G	A	47639713	3	1	280	1	0	0	0	0	1	0	0	0	856	1087	38	1	4888	1	ARFGEF2	20	47639713	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	2999828	47639713	15385807	51	19709											
HRH3	11255	broad.mit.edu	37	chr20	60791534	60791534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgccacccccgagggtcGcctccccggcctcagcgcct	4	4	10	23	5	1	0	1	0	0	0	3	1	2	0	9	2	1	0	9	2	0	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr20:60791534G>A	uc002yci.3	-	2	1163	c.866C>T	c.(865-867)gCg>gTg	p.A289V	HRH3_uc002ycf.2_Missense_Mutation_p.A289V|HRH3_uc002ych.3_Intron|HRH3_uc002ycg.3_Intron	NM_007232	NP_009163	Q9Y5N1	HRH3_HUMAN	Homo sapiens histamine receptor H3 (HRH3), mRNA.	289					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CCCGAGGGTCGCCTCCCCGGC	0.736													A	60791534	G	A	60791534	3	1	280	1	0	0	0	0	1	0	0	0	7412	1087	38	1	475	1	HRH3	20	60791534	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	13151821	60791534	2233986	52	19710											
TMPRSS15	5651	broad.mit.edu	37	chr21	19642347	19642347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcatacactccggggCgattaggcagggcacacttg	8	7	13	13	2	0	0	0	0	0	0	1	1	1	0	2	5	1	3	2	5	2	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr21:19642347C>T	uc002ykw.3	-	24	3030	c.2999G>A	c.(2998-3000)cGc>cAc	p.R1000H		NM_002772	NP_002763	P98073	ENTK_HUMAN	Homo sapiens transmembrane protease, serine 15 (TMPRSS15), mRNA.	1000	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CACTCCGGGGCGATTAGGCAG	0.448													T	19642347	C	T	19642347	3	4	280	1	0	0	0	0	1	0	0	0	16346	768	27	1	64	1	TMPRSS15	21	19642347	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08		19642347	28487548	53	19711											
LZTR1	150209	broad.mit.edu	37	chr22	21332217	21332217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtgtttgcagctggcgAtgctgtcaccttcccccttg	4	12	12	13	2	1	0	1	0	0	0	2	1	2	0	3	2	3	4	3	2	0	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chr22:21332217A>T	uc002ztj.2	+	15	1618	c.1400A>T	c.(1399-1401)gAt>gTt	p.D467V	LZTR1_uc002ztk.2_Missense_Mutation_p.D467V|LZTR1_uc002ztl.2_Missense_Mutation_p.D473V|LZTR1_uc011ahx.1_Missense_Mutation_p.D455V|LZTR1_uc002ztn.3_5'Flank	NM_144704	NP_653305	Q8N653	LZTR1_HUMAN	Homo sapiens apoptosis-inducing factor, mitochondrion-associated, 3 (AIFM3), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	0	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GCAGCTGGCGATGCTGTCACC	0.582													T	21332217	A	T	21332217	3	4	280	1	0	0	0	0	1	0	0	0	9208	333	12	5		5	LZTR1	22	21332217	Missense_Mutation	SNP	A	TCGA-76-6664-01A-11D-1845-08		21332217	29972349	54	19712											
PNPLA4	8228	broad.mit.edu	37	chrX	7870101	7870101	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggggagatgtccagtcGtccactgaagggggagatgg	8	7	18	8	2	0	3	0	1	0	2	3	5	2	3	2	5	1	0	2	5	1	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:7870101G>A	uc011mhq.1	-	5	721	c.559C>T	c.(559-561)Cga>Tga	p.R187*	PNPLA4_uc011mhr.1_Nonsense_Mutation_p.R187*|PNPLA4_uc011mhs.1_Nonsense_Mutation_p.R100*	NM_004650	NP_001166143	P41247	PLPL4_HUMAN	Homo sapiens patatin-like phospholipase domain containing 4 (PNPLA4), transcript variant 1, mRNA.	187			R -> Q (in dbSNP:rs2231793).		lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				ATGTCCAGTCGTCCACTGAAG	0.512													A	7870101	G	A	7870101	4	1	280	1	0	0	0	0	0	1	0	0	12244	1153	40	1	210	1	PNPLA4	23	7870101	Nonsense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08		7870101	147400459	55	19713											
SMS	6611	broad.mit.edu	37	chrX	21995314	21995314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatataaaaattctacactcGaagcagtttggaaatattct	17	13	5	6	1	2	0	0	0	2	0	3	2	2	1	0	1	2	2	0	1	9	7			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:21995314G>A	uc004dag.3	+	4	693	c.465G>A	c.(463-465)tcG>tcA	p.S155S	SMS_uc011mjq.2_Silent_p.S59S	NM_004595	NP_004586	P52788	SPSY_HUMAN	Homo sapiens spermine synthase (SMS), mRNA.	155					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity	p.S155L(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TTCTACACTCGAAGCAGTTTG	0.433													A	21995314	G	A	21995314	2	1	280	1	0	0	0	0	0	0	0	1	14907	1045	37	1		1	SMS	23	21995314	Silent	SNP	G	TCGA-76-6664-01A-11D-1845-08	14125213	21995314	133275246	56	19714											
MAOB	4129	broad.mit.edu	37	chrX	43628565	43628565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccctacctctcgggctgCtctctccccggcctctacag	5	9	8	19	2	3	1	0	0	3	1	6	1	4	1	5	2	3	2	5	2	2	2			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:43628565C>G	uc004dfz.4	-	12	1512	c.1336G>C	c.(1336-1338)Gca>Cca	p.A446P	MAOB_uc011mkx.2_Missense_Mutation_p.S397T|MAOB_uc011mky.2_Missense_Mutation_p.A430P	NM_000898	NP_000889	P27338	AOFB_HUMAN	Homo sapiens monoamine oxidase B (MAOB), nuclear gene encoding mitochondrial protein, mRNA.	446					xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	electron carrier activity|primary amine oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Bupropion(DB01156)|Carbidopa(DB00190)|Citalopram(DB00215)|Dopamine(DB00988)|Entacapone(DB00494)|Furazolidone(DB00614)|Ginkgo biloba(DB01381)|Ibuprofen(DB01050)|Imipramine(DB00458)|Iproniazid(DB04818)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Maprotiline(DB00934)|Meclizine(DB00737)|Moclobemide(DB01171)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Rasagiline(DB01367)|Selegiline(DB01037)|Tranylcypromine(DB00752)	TCTCGGGCTGCTCTCTCCCCG	0.572													G	43628565	C	G	43628565	3	3	280	1	0	0	0	0	1	0	0	0	9301	797	28	4	238	4	MAOB	23	43628565	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	21633251	43628565	111641995	57	19715											
CFP	5199	broad.mit.edu	37	chrX	47486225	47486225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggtggcatcgccagcaCagaaggggcccccatgctgg	7	5	15	14	2	0	1	0	0	0	1	2	1	1	1	4	5	2	3	4	5	1	0			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:47486225C>G	uc004dih.3	-	6	1129	c.887G>C	c.(886-888)tGt>tCt	p.C296S	CFP_uc004dig.4_Missense_Mutation_p.C296S|CFP_uc004dii.1_Missense_Mutation_p.C232S|CFP_uc010nhu.2_Missense_Mutation_p.C296S	NM_002621	NP_002612	P27918	PROP_HUMAN	Homo sapiens complement factor properdin (CFP), transcript variant 1, mRNA.	296	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGCCAGCACAGAAGGGGCC	0.642													G	47486225	C	G	47486225	3	3	280	1	0	0	0	0	1	0	0	0	3323	478	17	4	538	4	CFP	23	47486225	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	3857660	47486225	107784335	58	19716											
DGAT2L6	347516	broad.mit.edu	37	chrX	69421881	69421881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactctcttcctcaagcagcGtaaaggttttgtgaagatgg	10	12	10	9	1	2	2	1	1	1	1	4	2	3	2	1	2	2	3	1	2	4	4			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:69421881G>A	uc004dxx.1	+	4	711	c.614G>A	c.(613-615)cGt>cAt	p.R205H		NM_198512	NP_940914	Q6ZPD8	DG2L6_HUMAN	Homo sapiens diacylglycerol O-acyltransferase 2-like 6 (DGAT2L6), mRNA.	205					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						CTCAAGCAGCGTAAAGGTTTT	0.547													A	69421881	G	A	69421881	3	1	280	1	0	0	0	0	1	0	0	0	4498	1145	40	1	632	1	DGAT2L6	23	69421881	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	21935656	69421881	85848679	59	19717											
ATP7A	538	broad.mit.edu	37	chrX	77296145	77296145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaagcctgaagcagaactgGctatccatattctgaaatct	13	11	8	9	0	2	4	0	3	2	1	3	4	3	4	2	1	3	2	2	1	6	3			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:77296145G>T	uc004ecx.4	+	18	3875	c.3715G>T	c.(3715-3717)Gct>Tct	p.A1239S		NM_000052	NP_000043	Q04656	ATP7A_HUMAN	Homo sapiens ATPase, Cu++ transporting, alpha polypeptide (ATP7A), mRNA.	1239					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGCAGAACTGGCTATCCATAT	0.413													T	77296145	G	T	77296145	3	4	280	1	0	0	0	0	1	0	0	0	1195	1203	42	4	3785	4	ATP7A	23	77296145	Missense_Mutation	SNP	G	TCGA-76-6664-01A-11D-1845-08	7874264	77296145	77974415	60	19718											
TMSB15A	11013	broad.mit.edu	37	chrX	101770022	101770022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaagagtatttttttcttCagtattagttttcttcagtt	8	21	8	4	0	4	1	2	0	2	1	4	2	4	2	0	1	0	4	0	1	4	11			TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:101770022C>T	uc004eje.3	-	1	193	c.70G>A	c.(70-72)Gaa>Aaa	p.E24K		NM_021992	NP_919305	P0CG34	TB15A_HUMAN	Homo sapiens thymosin beta 15a (TMSB15A), mRNA.	24					actin cytoskeleton organization|sequestering of actin monomers	cytoplasm|cytoskeleton	actin binding			large_intestine(1)|lung(1)	2						TTTTTTTCTTCAGTATTAGTT	0.368													T	101770022	C	T	101770022	3	4	280	1	0	0	0	0	1	0	0	0	16355	835	29	2	75	2	TMSB15A	23	101770022	Missense_Mutation	SNP	C	TCGA-76-6664-01A-11D-1845-08	24473877	101770022	53500538	61	19719											
RAB9B	51209	broad.mit.edu	37	chrX	103080388	103080388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagggtccttcacatcCgcatagtaaataaattcttt	11	14	6	10	1	3	0	2	0	1	0	5	0	5	0	2	1	1	3	2	1	5	6	rs142893082	byFrequency	TCGA-76-6664-01A-11D-1845-08	TCGA-76-6664-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6a8f17c6-060d-492e-8a39-53d9ac7035a4	43e20ea7-844f-4f2c-a1c2-a02e44e591d5	g.chrX:103080388C>T	uc004ell.2	-	2	666	c.327G>A	c.(325-327)gcG>gcA	p.A109A	RAB9B_uc004eli.2_Intron|RAB9B_uc022cbx.1_Silent_p.A109A	NM_016370	NP_057454	Q9NP90	RAB9B_HUMAN	Homo sapiens RAB9B, member RAS oncogene family (RAB9B), mRNA.	109					Golgi to endosome transport|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(11)	14						CCTTCACATCCGCATAGTAAA	0.488													T	103080388	C	T	103080388	2	4	280	1	0	0	0	0	0	0	0	1	13047	639	23	1		1	RAB9B	23	103080388	Silent	SNP	C	TCGA-76-6664-01A-11D-1845-08	1310366	103080388	52190172	62	19720											
HMGB4	127540	broad.mit.edu	37	chr1	34330273	34330273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggaacttgaactctacCgtaaacaatgtaatgccagg	14	9	9	9	2	1	1	0	1	1	0	2	3	1	2	2	2	5	2	2	2	7	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:34330273C>T	uc021oky.1	+	0	481	c.481C>T	c.(481-483)Cgt>Tgt	p.R161C	CSMD2_uc001bxm.1_Intron|CSMD2_uc001bxn.1_Intron|HMGB4_uc001bxp.3_Missense_Mutation_p.R161C|HMGB4_uc001bxq.3_Missense_Mutation_p.R87C	NM_145205	NP_660206	B2R4X7	B2R4X7_HUMAN	Homo sapiens high mobility group box 4 (HMGB4), transcript variant 1, mRNA.	161						nucleus	DNA binding			NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGAACTCTACCGTAAACAATG	0.478													T	34330273	C	T	34330273	3	4	281	1	0	0	0	0	1	0	0	0	7283	652	23	1	483	1	HMGB4	1	34330273	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		34330273	214920348	1	19721											
STK40	83931	broad.mit.edu	37	chr1	36820904	36820904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgacgtagtgctgcaggTtgatgaggtcagcggtctta	8	12	15	6	2	2	4	1	4	1	0	2	4	2	4	0	3	3	4	0	3	2	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:36820904T>C	uc001cak.1	-	5	880	c.473A>G	c.(472-474)aAc>aGc	p.N158S	STK40_uc001cal.1_Missense_Mutation_p.N163S|STK40_uc001cam.1_Missense_Mutation_p.N158S|STK40_uc001can.1_Missense_Mutation_p.N158S	NM_032017	NP_114406	Q8N2I9	STK40_HUMAN	Homo sapiens serine/threonine kinase 40 (STK40), mRNA.	158	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				GTGCTGCAGGTTGATGAGGTC	0.562													C	36820904	T	C	36820904	3	2	281	1	0	0	0	0	1	0	0	0	15403	1725	60	3	862	3	STK40	1	36820904	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	2490631	36820904	212429717	2	19722											
IFI44L	10964	broad.mit.edu	37	chr1	79094655	79094655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattaaggataacctagaCgacataaagaggataattaa	20	8	9	4	1	0	2	0	0	0	2	0	6	0	5	1	3	1	0	1	3	8	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:79094655C>T	uc010oro.2	+	2	677	c.498C>T	c.(496-498)gaC>gaT	p.D166D	IFI44L_uc010orp.2_5'UTR|IFI44L_uc010orq.2_Intron	NM_006820	NP_006811	Q53G44	IF44L_HUMAN	Homo sapiens interferon-induced protein 44-like (IFI44L), mRNA.	166						cytoplasm				endometrium(4)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	22						ATAACCTAGACGACATAAAGA	0.294													T	79094655	C	T	79094655	2	4	281	1	0	0	0	0	0	0	0	1	7576	535	19	1		1	IFI44L	1	79094655	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	42273751	79094655	170155966	3	19723											
OR6N1	128372	broad.mit.edu	37	chr1	158735944	158735944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagggaagtcacaaaagaCgtgctgaatgcgattggggc	13	6	16	6	2	1	2	1	1	0	1	1	5	1	4	0	4	2	1	0	4	4	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:158735944C>T	uc010piq.2	-	0	529	c.529G>A	c.(529-531)Gtc>Atc	p.V177I		NM_001005185	NP_001005185	Q8NGY5	OR6N1_HUMAN	Homo sapiens olfactory receptor, family 6, subfamily N, member 1 (OR6N1), mRNA.	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V177V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TCACAAAAGACGTGCTGAATG	0.473													T	158735944	C	T	158735944	3	4	281	1	0	0	0	0	1	0	0	0	11282	536	19	1	412	1	OR6N1	1	158735944	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	79641289	158735944	90514677	4	19724											
USH2A	7399	broad.mit.edu	37	chr1	216419959	216419959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattacaccttcttccttgaCgattaggcacacacaggcac	11	10	7	13	1	1	1	0	1	1	0	2	3	2	1	2	2	1	2	2	2	2	5	rs146916397	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:216419959C>T	uc001hku.1	-	12	3164	c.2777G>A	c.(2776-2778)cGt>cAt	p.R926H	USH2A_uc001hkv.3_Missense_Mutation_p.R926H	NM_206933	NP_996816	O75445	USH2A_HUMAN	Homo sapiens Usher syndrome 2A (autosomal recessive, mild) (USH2A), transcript variant 2, mRNA.	926	Laminin EGF-like 8.				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)		TCTTCCTTGACGATTAGGCAC	0.423										HNSCC(13;0.011)			T	216419959	C	T	216419959	3	4	281	1	0	0	0	0	1	0	0	0	17138	536	19	1	13085	1	USH2A	1	216419959	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	57684015	216419959	32830662	5	19725											
OR2L2	26246	broad.mit.edu	37	chr1	248202093	248202094	+	Frame_Shift_Ins	INS	-	-	T																															aagtccagagccatcaatcaINSttttttctgtgatgttccag																										TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr1:248202093_248202094insT	uc001idw.3	+	0	620_621	c.524_525insT	c.(523-525)catfs	p.H175fs	OR2L13_uc001ids.3_Intron	NM_001004686	NP_001004686	Q8NH16	OR2L2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily L, member 2 (OR2L2), mRNA.	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H175Y(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCCATCAATCATTTTTTCTGTG	0.431													T	248202094	-	T	248202093	7	5	281	1	0	1	1	0	0	0	0	0	11083	217	8	0	526	0	OR2L2	1	248202093	Frame_Shift_Ins	INS	-	TCGA-81-5910-01A-11D-1696-08	31782134	248202093	1048528	6	19726											
AFF3	3899	broad.mit.edu	37	chr2	100209854	100209854	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatctcatcactgtcctttaGaggggagagaagttcgttcc	9	12	11	9	1	2	2	2	0	1	2	6	5	4	3	2	2	0	2	2	2	2	4	rs56151323		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:100209854G>C	uc002taf.3	-	13	2488	c.2344C>G	c.(2344-2346)Cta>Gta	p.L782V	AFF3_uc002tag.3_Missense_Mutation_p.L757V|AFF3_uc010fiq.1_Missense_Mutation_p.L757V|AFF3_uc010yvr.1_Missense_Mutation_p.L910V|AFF3_uc002tah.1_Missense_Mutation_p.L782V	NM_001025108	NP_001020279	P51826	AFF3_HUMAN	Homo sapiens AF4/FMR2 family, member 3 (AFF3), transcript variant 2, mRNA.	757					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGTCCTTTAGAGGGGAGAGA	0.572													C	100209854	G	C	100209854	3	2	281	1	0	0	0	0	1	0	0	0	358	933	33	4	1455	4	AFF3	2	100209854	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		100209854	142989519	7	19727											
SCN9A	6335	broad.mit.edu	37	chr2	167162345	167162345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccagttccacgggtcacGaagaaaagtgaattctccta	13	8	9	11	2	2	2	1	1	1	1	4	3	3	2	3	1	1	1	3	1	5	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:167162345G>A	uc010fpl.3	-	4	894	c.553C>T	c.(553-555)Cgt>Tgt	p.R185C	SCN9A_uc002udr.1_Missense_Mutation_p.R56C|SCN9A_uc002uds.1_Missense_Mutation_p.R56C|SCN9A_uc002udt.1_Missense_Mutation_p.R56C	NM_002977	NP_002968	Q15858	SCN9A_HUMAN	Homo sapiens sodium channel, voltage-gated, type IX, alpha subunit (SCN9A), mRNA.	185						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CACGGGTCACGAAGAAAAGTG	0.378													A	167162345	G	A	167162345	3	1	281	1	0	0	0	0	1	0	0	0	14018	1058	37	1	5472	1	SCN9A	2	167162345	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	66952491	167162345	76037028	8	19728											
XIRP2	129446	broad.mit.edu	37	chr2	168100110	168100110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaagtataaaatgtttCgaaactcaaccattatatgt	19	12	5	5	1	1	1	1	0	0	1	2	2	1	1	1	0	2	2	1	0	10	5	rs76149079	byFrequency	TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:168100110C>T	uc002udx.3	+	8	2297	c.2208C>T	c.(2206-2208)ttC>ttT	p.F736F	XIRP2_uc010fpn.3_Intron|XIRP2_uc010fpo.3_Intron|XIRP2_uc002udy.3_Silent_p.F561F|XIRP2_uc010fpq.3_Silent_p.F514F|XIRP2_uc010fpr.3_Intron	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN	Homo sapiens xin actin-binding repeat containing 2 (XIRP2), transcript variant 1, mRNA.	561					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TAAAATGTTTCGAAACTCAAC	0.368													T	168100110	C	T	168100110	2	4	281	1	0	0	0	0	0	0	0	1	17532	883	31	1		1	XIRP2	2	168100110	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	937765	168100110	75099263	9	19729											
LRP2	4036	broad.mit.edu	37	chr2	170145548	170145548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacttaccaacacaggtacGgctgtcattgtggttgatga	10	12	10	9	1	2	2	2	2	0	0	2	2	2	2	1	3	3	3	1	3	3	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:170145548G>A	uc002ues.3	-	8	1243	c.1030C>T	c.(1030-1032)Cgt>Tgt	p.R344C	LRP2_uc010zdf.1_Missense_Mutation_p.R344C	NM_004525	NP_004516	P98164	LRP2_HUMAN	Homo sapiens low density lipoprotein receptor-related protein 2 (LRP2), mRNA.	344	EGF-like 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACACAGGTACGGCTGTCATTG	0.522													A	170145548	G	A	170145548	3	1	281	1	0	0	0	0	1	0	0	0	9026	1116	39	1	13221	1	LRP2	2	170145548	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	2045438	170145548	73053825	10	19730											
TTN	7273	broad.mit.edu	37	chr2	179498195	179498195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtcacacacatattcGcctttatctttaaggtccgc	10	12	5	14	2	2	0	1	0	1	0	4	0	3	0	3	1	0	0	3	1	3	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:179498195G>A	uc021vsy.1	-	180	35412	c.35187C>T	c.(35185-35187)ggC>ggT	p.G11729G	MIR548N_uc021vsx.1_Intron|TTN_uc021vsz.1_Silent_p.G5424G|TTN_uc021vta.1_Silent_p.G5357G|TTN_uc021vtb.1_Silent_p.G5232G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	Homo sapiens titin (TTN), transcript variant N2-A, mRNA.	12656	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACATATTCGCCTTTATCTT	0.428													A	179498195	G	A	179498195	2	1	281	1	0	0	0	0	0	0	0	1	16837	1074	38	1		1	TTN	2	179498195	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	9352647	179498195	63701178	11	19731											
MPP4	58538	broad.mit.edu	37	chr2	202545627	202545627	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgagatttttcgggccTgccaccagagggcatcattc	7	11	12	11	1	2	2	1	1	1	2	4	3	2	2	3	3	1	1	3	3	0	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:202545627T>G	uc002uyk.4	-	9	1071	c.863A>C	c.(862-864)cAg>cCg	p.Q288P	MPP4_uc010ftj.3_Missense_Mutation_p.Q288P|MPP4_uc010zhq.2_Missense_Mutation_p.Q288P|MPP4_uc010zht.2_Missense_Mutation_p.Q261P|MPP4_uc010zhr.2_Missense_Mutation_p.Q288P|MPP4_uc010zhs.2_Missense_Mutation_p.Q244P|MPP4_uc002uyj.4_Missense_Mutation_p.Q244P|MPP4_uc002uyl.4_Non-coding_Transcript|MPP4_uc010ftk.3_Missense_Mutation_p.Q275P|MPP4_uc002uym.1_Missense_Mutation_p.Q257P|MPP4_uc002uyn.3_Missense_Mutation_p.Q244P	NM_033066	NP_149055	Q96JB8	MPP4_HUMAN	Homo sapiens membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4) (MPP4), mRNA.	288	SH3.					cytoplasm	protein binding			kidney(1)|lung(11)	12						TTTTCGGGCCTGCCACCAGAG	0.582											OREG0015145	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	202545627	T	G	202545627	3	3	281	1	0	0	0	0	1	0	0	0	9812	1580	55	5	1102	5	MPP4	2	202545627	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	23047432	202545627	40653746	12	19732											
PAX3	5077	broad.mit.edu	37	chr2	223066892	223066892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtaccccaccgtggttGgtcaggagtcccattaccta	8	10	11	12	1	1	1	1	1	0	0	2	2	2	2	5	4	2	2	5	4	3	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr2:223066892G>A	uc010fwo.3	-	7	1572	c.1191C>T	c.(1189-1191)acC>acT	p.T397T	PAX3_uc002vmt.2_Silent_p.T397T|PAX3_uc002vmy.2_Silent_p.T396T|PAX3_uc002vmv.2_Silent_p.T397T|PAX3_uc002vmw.2_Intron|PAX3_uc002vmx.2_Intron	NM_181457	NP_852122	P23760	PAX3_HUMAN	Homo sapiens paired box 3 (PAX3), transcript variant PAX3, mRNA.	397					apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CACCGTGGTTGGTCAGGAGTC	0.537			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						A	223066892	G	A	223066892	2	1	281	1	0	0	0	0	0	0	0	1	11556	1335	47	2		2	PAX3	2	223066892	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	20521265	223066892	20132481	13	19733											
CRELD1	78987	broad.mit.edu	37	chr3	9976243	9976243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccagtcttctcccccgCctcagccccatccgtgtcat	4	10	5	22	2	4	0	2	0	2	0	7	0	6	0	8	0	1	0	8	0	0	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:9976243C>A	uc003buf.3	+	1	220	c.121C>A	c.(121-123)Cct>Act	p.P41T	CIDEC_uc003bto.3_Intron|CRELD1_uc003buh.3_Missense_Mutation_p.P41T|CRELD1_uc003bug.3_Missense_Mutation_p.P41T	NM_001031717	NP_001026887	Q96HD1	CREL1_HUMAN	Homo sapiens cysteine-rich with EGF-like domains 1 (CRELD1), transcript variant 1, mRNA.	41	Pro-rich.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						TTCTCCCCCGCCTCAGCCCCA	0.617													A	9976243	C	A	9976243	3	1	281	1	0	0	0	0	1	0	0	0	3897	739	26	4	123	4	CRELD1	3	9976243	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		9976243	188046187	14	19734											
STXBP5L	9515	broad.mit.edu	37	chr3	120976169	120976169	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtaacaaaggacagtatTccatgcctcaagtaagagtt	15	9	10	7	0	1	1	1	0	0	1	2	3	2	3	2	2	2	4	2	2	5	5			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:120976169T>G	uc003eec.4	+	16	1961	c.1821T>G	c.(1819-1821)atT>atG	p.I607M	STXBP5L_uc011bji.2_Missense_Mutation_p.I607M	NM_014980	NP_055795	Q9Y2K9	STB5L_HUMAN	Homo sapiens syntaxin binding protein 5-like (STXBP5L), mRNA.	607					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		AGGACAGTATTCCATGCCTCA	0.368													G	120976169	T	G	120976169	3	3	281	1	0	0	0	0	1	0	0	0	15453	1771	62	5	1883	5	STXBP5L	3	120976169	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	110999926	120976169	77046261	15	19735											
TP63	8626	broad.mit.edu	37	chr3	189456442	189456442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgttaggcctatatgttCagttcagcccattgacttga	9	15	9	8	0	2	2	2	2	0	0	2	2	2	2	2	1	1	3	2	1	3	7			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr3:189456442C>T	uc003fry.2	+	2	292	c.203C>T	c.(202-204)tCa>tTa	p.S68L	TP63_uc003frx.2_Missense_Mutation_p.S68L|TP63_uc003frz.2_Missense_Mutation_p.S68L|TP63_uc010hzc.1_Missense_Mutation_p.S68L	NM_003722	NP_003713	Q9H3D4	P63_HUMAN	Homo sapiens tumor protein p63 (TP63), transcript variant 1, mRNA.	68	Transcription activation.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCTATATGTTCAGTTCAGCCC	0.408										HNSCC(45;0.13)			T	189456442	C	T	189456442	3	4	281	1	0	0	0	0	1	0	0	0	16493	838	29	2	213	2	TP63	3	189456442	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	68480273	189456442	8565988	16	19736											
ANAPC4	29945	broad.mit.edu	37	chr4	25416009	25416009	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatagagataccagaaggTaattctgtttacctattgga	13	14	9	5	0	1	2	0	0	1	2	1	4	1	3	2	2	2	3	2	2	7	9			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:25416009T>C	uc003gro.3	+	23	1814	c.1685_splice	c.e23+2	p.S562_splice	ANAPC4_uc003grp.3_Splice_Site_p.S448_splice|ANAPC4_uc003grq.3_Splice_Site_p.S15_splice	NM_013367	NP_037499	Q9UJX5	APC4_HUMAN	Homo sapiens anaphase promoting complex subunit 4 (ANAPC4), mRNA.	562					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	27		Breast(46;0.0503)				TACCAGAAGGTAATTCTGTTT	0.299													C	25416009	T	C	25416009	5	2	281	1	0	0	0	0	0	0	1	0	604	1652	57	3	1773	3	ANAPC4	4	25416009	Splice_Site	SNP	T	TCGA-81-5910-01A-11D-1696-08		25416009	165738267	17	19737											
NIPAL1	152519	broad.mit.edu	37	chr4	48027184	48027184	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgctctacacggaccTgaattacagcataaacaact	13	10	6	12	1	1	1	0	1	1	0	2	2	2	2	2	1	6	2	2	1	6	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:48027184T>C	uc003gxw.3	+	1	212	c.146T>C	c.(145-147)cTg>cCg	p.L49P		NM_207330	NP_997213	Q6NVV3	NIPA3_HUMAN	Homo sapiens NIPA-like domain containing 1 (NIPAL1), mRNA.	49						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						TACACGGACCTGAATTACAGC	0.438													C	48027184	T	C	48027184	3	2	281	1	0	0	0	0	1	0	0	0	10500	1580	55	3	152	3	NIPAL1	4	48027184	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	22611175	48027184	143127092	18	19738											
KDR	3791	broad.mit.edu	37	chr4	55946311	55946311	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgccacagactccctgcTtttgctgggcaccattccac	8	10	8	15	0	0	2	0	0	0	2	2	2	2	2	4	1	3	3	4	1	0	3	rs66480054		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr4:55946311T>G	uc003has.3	-	29	4170	c.3868A>C	c.(3868-3870)Agc>Cgc	p.S1290R	KDR_uc003hat.1_Missense_Mutation_p.S1290R	NM_002253	NP_002244	P35968	VGFR2_HUMAN	Homo sapiens kinase insert domain receptor (a type III receptor tyrosine kinase) (KDR), mRNA.	1290					angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GACTCCCTGCTTTTGCTGGGC	0.507			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G	55946311	T	G	55946311	3	3	281	1	0	0	0	0	1	0	0	0	8197	1609	56	5	206	5	KDR	4	55946311	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	7919127	55946311	135207965	19	19739											
CARD6	84674	broad.mit.edu	37	chr5	40853460	40853460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcctctggagaaaacatgGctgggacagctgaaggtgag	11	9	14	7	0	1	3	0	2	1	1	2	5	2	4	1	4	2	2	1	4	3	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr5:40853460G>A	uc003jmg.3	+	2	2101	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T		NM_032587	NP_115976	Q9BX69	CARD6_HUMAN	Homo sapiens caspase recruitment domain family, member 6 (CARD6), mRNA.	676					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						AGAAAACATGGCTGGGACAGC	0.493													A	40853460	G	A	40853460	3	1	281	1	0	0	0	0	1	0	0	0	2676	1203	42	2	2036	2	CARD6	5	40853460	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		40853460	140061800	20	19740											
TREM1	54210	broad.mit.edu	37	chr6	41254356	41254356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttacctgagacaaagAgcatccacagcagcccccag	12	7	8	14	0	1	2	0	1	1	2	2	3	2	2	4	0	4	2	4	0	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:41254356A>G	uc003oqf.2	-	0	102	c.38T>C	c.(37-39)cTc>cCc	p.L13P	TREM1_uc003oqg.2_Missense_Mutation_p.L13P|TREM1_uc021yzj.1_Missense_Mutation_p.L13P	NM_018643	NP_061113	Q9NP99	TREM1_HUMAN	Homo sapiens triggering receptor expressed on myeloid cells 1 (TREM1), transcript variant 1, mRNA.	13					blood coagulation|humoral immune response|intracellular signal transduction|leukocyte migration	extracellular region|integral to membrane|intracellular|plasma membrane	receptor activity			NS(1)|breast(2)|endometrium(2)|large_intestine(5)|lung(5)|skin(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)				Glutathione(DB00143)	TGAGACAAAGAGCATCCACAG	0.587													G	41254356	A	G	41254356	3	3	281	1	0	0	0	0	1	0	0	0	16571	304	11	3	682	3	TREM1	6	41254356	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08		41254356	129860711	21	19741											
BVES	11149	broad.mit.edu	37	chr6	105577294	105577294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatacgacagatgcaaaatgTtgacacccaagaacacagag	18	5	9	9	1	0	4	0	1	0	3	0	6	0	4	1	0	3	2	1	0	5	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr6:105577294T>C	uc003pqw.3	-	2	468	c.311A>G	c.(310-312)aAc>aGc	p.N104S	BVES_uc003pqx.3_Missense_Mutation_p.N104S|BVES_uc003pqy.3_Missense_Mutation_p.N104S	NM_147147	NP_671488	Q8NE79	POPD1_HUMAN	Homo sapiens blood vessel epicardial substance (BVES), transcript variant B, mRNA.	104					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				ATGCAAAATGTTGACACCCAA	0.363													C	105577294	T	C	105577294	3	2	281	1	0	0	0	0	1	0	0	0	1585	1725	60	3	795	3	BVES	6	105577294	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	64322938	105577294	65537773	22	19742											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:55221710C>T	uc003tqk.3	+	6	1000	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_uc003tqh.3_Missense_Mutation_p.R252C|EGFR_uc003tqi.3_Missense_Mutation_p.R252C|EGFR_uc003tqj.3_Missense_Mutation_p.R252C|EGFR_uc022adm.1_Missense_Mutation_p.R252C|EGFR_uc010kzg.2_Missense_Mutation_p.R207C|EGFR_uc022adn.1_Missense_Mutation_p.R207C|EGFR_uc011kco.2_Missense_Mutation_p.R199C|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.V30_R297>G(5)|p.R252C(2)|p.C251Y(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221710	C	T	55221710	3	4	281	1	0	0	0	0	1	0	0	0	5006	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		55221710	103916953	23	19743											
MCM7	4176	broad.mit.edu	37	chr7	99691889	99691889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcgcctcatctccacGtatgctgctgtgatgtagtc	5	13	9	14	2	3	1	1	1	2	0	6	1	3	1	3	0	2	4	3	0	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:99691889G>A	uc003usw.1	-	12	2265	c.1755C>T	c.(1753-1755)taC>taT	p.Y585Y	MCM7_uc003usv.1_Silent_p.Y409Y|MCM7_uc003usx.1_Silent_p.Y409Y|MIR25_uc003usy.1_5'Flank|MIR93_uc003usz.1_5'Flank|MIR106B_uc003uta.1_5'Flank	NM_005916	NP_005907	P33993	MCM7_HUMAN	Homo sapiens minichromosome maintenance complex component 7 (MCM7), transcript variant 1, mRNA.	585	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TCATCTCCACGTATGCTGCTG	0.577													A	99691889	G	A	99691889	2	1	281	1	0	0	0	0	0	0	0	1	9467	1140	40	1		1	MCM7	7	99691889	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	44470179	99691889	59446774	24	19744											
FBXL13	222235	broad.mit.edu	37	chr7	102669857	102669857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcttttatcatcaattcCggagtcatctaaagtaaata	14	13	6	8	1	4	0	3	0	1	0	5	1	5	1	1	2	0	2	1	2	7	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:102669857C>T	uc003vaq.2	-	2	436	c.9G>A	c.(7-9)ccG>ccA	p.P3P	FBXL13_uc010lir.1_Silent_p.P3P|FBXL13_uc003var.2_Non-coding_Transcript|FBXL13_uc003vas.2_Silent_p.P3P|FBXL13_uc003vav.2_Non-coding_Transcript	NM_145032	NP_659469	Q8NEE6	FXL13_HUMAN	Homo sapiens F-box and leucine-rich repeat protein 13 (FBXL13), transcript variant 1, mRNA.	3										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCATCAATTCCGGAGTCATCT	0.294													T	102669857	C	T	102669857	2	4	281	1	0	0	0	0	0	0	0	1	5758	639	23	1		1	FBXL13	7	102669857	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	2977968	102669857	56468806	25	19745											
RELN	5649	broad.mit.edu	37	chr7	103234169	103234169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtttcagggtcaaatctCgagttactgcaaatcgatct	11	12	9	9	2	4	0	2	0	2	0	6	2	4	0	0	2	2	3	0	2	3	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:103234169C>T	uc022ajr.1	-	26	4032	c.3872G>A	c.(3871-3873)cGa>cAa	p.R1291Q	RELN_uc022ajq.1_Missense_Mutation_p.R1291Q|RELN_uc010liz.3_Missense_Mutation_p.R1291Q	NM_005045	NP_005036	P78509	RELN_HUMAN	Homo sapiens reelin (RELN), transcript variant 1, mRNA.	1291					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		GGTCAAATCTCGAGTTACTGC	0.393													T	103234169	C	T	103234169	3	4	281	1	0	0	0	0	1	0	0	0	13308	884	31	1	6666	1	RELN	7	103234169	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	564312	103234169	55904494	26	19746											
NOBOX	135935	broad.mit.edu	37	chr7	144098554	144098554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccagagactgctggCggcttcttctctcctgagat	5	13	10	13	1	3	2	0	1	3	2	6	4	4	2	2	2	1	3	2	2	0	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr7:144098554C>T	uc022aoj.1	-	3	429	c.429G>A	c.(427-429)ccG>ccA	p.P143P		NM_001080413	NP_001073882	O60393	NOBOX_HUMAN	Homo sapiens NOBOX oogenesis homeobox (NOBOX), mRNA.	143					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding	p.P143P(3)		NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AGACTGCTGGCGGCTTCTTCT	0.652													T	144098554	C	T	144098554	2	4	281	1	0	0	0	0	0	0	0	1	10588	755	27	1		1	NOBOX	7	144098554	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	40864385	144098554	15040109	27	19747											
C9orf66	157983	broad.mit.edu	37	chr9	215042	215042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaacaggtaagacgccccCcgcggcgcgcaggttgcggc	8	4	14	15	6	1	1	1	0	0	1	1	1	1	1	3	4	2	3	3	4	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:215042C>A	uc003zge.4	-	0	852	c.355G>T	c.(355-357)Ggg>Tgg	p.G119W	DOCK8_uc011lls.1_Intron|DOCK8_uc003zgf.2_Intron	NM_152569	NP_689782	Q5T8R8	CI066_HUMAN	Homo sapiens chromosome 9 open reading frame 66 (C9orf66), mRNA.	119										central_nervous_system(1)|cervix(1)|kidney(1)|skin(1)	4	all_lung(41;0.218)	all_cancers(5;2.09e-12)|all_epithelial(5;6.16e-09)|all_lung(10;1.15e-08)|Lung NSC(10;1.91e-08)|Acute lymphoblastic leukemia(5;0.00457)|all_hematologic(5;0.0332)|Breast(48;0.0646)|Prostate(43;0.137)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		AAGACGCCCCCCGCGGCGCGC	0.731													A	215042	C	A	215042	3	1	281	1	0	0	0	0	1	0	0	0	2516	623	22	4	536	4	C9orf66	9	215042	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		215042	140998389	28	19748											
FREM1	158326	broad.mit.edu	37	chr9	14848723	14848723	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgatggagatgtggactgTcataggtgcactcctttcaa	9	13	11	8	0	3	2	2	1	1	1	4	4	4	3	1	3	1	1	1	3	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:14848723T>A	uc003zlm.3	-	7	2017	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S	FREM1_uc010mic.3_Non-coding_Transcript	NM_144966	NP_659403	Q5H8C1	FREM1_HUMAN	Homo sapiens FRAS1 related extracellular matrix 1 (FREM1), transcript variant 1, mRNA.	401					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding	p.P400P(1)		breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGTGGACTGTCATAGGTGCA	0.448													A	14848723	T	A	14848723	3	1	281	1	0	0	0	0	1	0	0	0	6096	1667	58	5	5512	5	FREM1	9	14848723	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	14633681	14848723	126364708	29	19749											
OR13F1	138805	broad.mit.edu	37	chr9	107267210	107267210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttatgcatttatcctcGccagtatcctgagaatcagc	9	14	6	12	1	2	1	1	1	1	1	6	2	4	1	3	0	2	2	3	0	4	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:107267210G>A	uc011lvm.2	+	0	667	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_001004485	NP_001004485	Q8NGS4	O13F1_HUMAN	Homo sapiens olfactory receptor, family 13, subfamily F, member 1 (OR13F1), mRNA.	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTATCCTCGCCAGTATCCT	0.478													A	107267210	G	A	107267210	3	1	281	1	0	0	0	0	1	0	0	0	11017	1087	38	1	669	1	OR13F1	9	107267210	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	92418487	107267210	33946221	30	19750											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgaactgcttgccgttgtgCcatgtaaaggagtcacccgc	8	10	12	11	2	1	1	1	1	0	0	1	2	1	2	3	1	4	3	3	1	3	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:129854001C>T	uc004bqr.1	-	3	1730	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_uc022bno.1_Intron|RALGPS1_uc011mab.2_Intron|RALGPS1_uc011mac.2_Intron|RALGPS1_uc004bqo.2_Intron|RALGPS1_uc004bqq.4_Intron|ANGPTL2_uc010mxg.1_Nonsense_Mutation_p.W108*	NM_012098	NP_036230	Q9UKU9	ANGL2_HUMAN	Homo sapiens angiopoietin-like 2 (ANGPTL2), mRNA.	410	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532													T	129854001	C	T	129854001	4	4	281	1	0	0	0	0	0	1	0	0	614	740	26	2	259	2	ANGPTL2	9	129854001	Nonsense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	22586791	129854001	11359430	31	19751											
SETX	23064	broad.mit.edu	37	chr9	135202099	135202099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaatcgactgtatccccTttgacttattttttagagac	11	16	5	9	1	1	2	1	1	0	1	3	4	2	2	2	0	0	1	2	0	5	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135202099T>C	uc004cbk.3	-	9	5069	c.4886A>G	c.(4885-4887)aAg>aGg	p.K1629R	SETX_uc004cbj.3_Missense_Mutation_p.K1248R|SETX_uc010mzt.3_Missense_Mutation_p.K1248R	NM_015046	NP_055861	Q7Z333	SETX_HUMAN	Homo sapiens senataxin (SETX), mRNA.	1629					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CTGTATCCCCTTTGACTTATT	0.398													C	135202099	T	C	135202099	3	2	281	1	0	0	0	0	1	0	0	0	14234	1609	56	3	3215	3	SETX	9	135202099	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	5348098	135202099	6011332	32	19752											
RALGDS	5900	broad.mit.edu	37	chr9	135975714	135975714	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggctcctcctcctccaggTtgtgtttgtccatggccttg	2	14	10	15	1	0	0	0	0	0	0	5	0	5	0	7	3	0	3	7	3	0	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr9:135975714T>C	uc004cco.3	-	16	2530	c.2510A>G	c.(2509-2511)aAc>aGc	p.N837S	RALGDS_uc004ccn.3_Missense_Mutation_p.N25S|RALGDS_uc004ccp.3_Non-coding_Transcript|RALGDS_uc004ccq.3_Missense_Mutation_p.N825S|RALGDS_uc004ccr.3_Missense_Mutation_p.N836S|RALGDS_uc011mcv.2_Missense_Mutation_p.N808S|RALGDS_uc004ccs.3_Missense_Mutation_p.N782S|RALGDS_uc011mcw.2_Missense_Mutation_p.N908S|RALGDS_uc004cct.1_5'Flank|RALGDS_uc004ccv.1_3'UTR|RALGDS_uc004ccu.1_3'UTR	NM_006266	NP_006257	Q12967	GNDS_HUMAN	Homo sapiens ral guanine nucleotide dissociation stimulator (RALGDS), transcript variant 1, mRNA.	837	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		CTCCTCCAGGTTGTGTTTGTC	0.592			T	CIITA	"PMBL, Hodgkin Lymphona, "								C	135975714	T	C	135975714	3	2	281	1	0	0	0	0	1	0	0	0	13104	1725	60	3	242	3	RALGDS	9	135975714	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08	773615	135975714	5237717	33	19753											
PTEN	5728	broad.mit.edu	37	chr10	89711891	89711891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggagtaactattcccaGtcagaggcgctatgtgtatt	10	11	11	9	1	1	1	1	0	0	1	2	2	2	2	2	2	1	3	2	2	4	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr10:89711891G>A	uc001kfb.3	+	5	1541	c.509G>A	c.(508-510)aGt>aAt	p.S170N	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S170N(12)|p.S170I(6)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.P169H(1)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170_Q171del(1)|p.G165_K342del(1)|p.S170G(1)|p.S170fs*8(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTATTCCCAGTCAGAGGCGC	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89711891	G	A	89711891	3	1	281	1	0	0	0	0	1	0	0	0	12823	1029	36	2	531	2	PTEN	10	89711891	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		89711891	45822856	34	19754											
CELF1	10658	broad.mit.edu	37	chr11	47496959	47496959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtacagagtggggagcGcagcagcagcatattgctgg	9	8	17	7	1	0	1	0	0	0	1	0	2	0	2	0	4	6	7	0	4	2	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:47496959G>A	uc001nfp.3	-	12	1604	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	CELF1_uc001nfl.3_Missense_Mutation_p.A373V|CELF1_uc010rhm.2_Missense_Mutation_p.A372V|CELF1_uc001nfm.3_Missense_Mutation_p.A370V|CELF1_uc001nfk.2_Missense_Mutation_p.A399V|CELF1_uc001nfn.3_Missense_Mutation_p.A369V|CELF1_uc001nfr.1_Missense_Mutation_p.A373V	NM_001025596	NP_001020767	Q92879	CELF1_HUMAN	Homo sapiens CUGBP, Elav-like family member 1 (CELF1), transcript variant 3, mRNA.	373	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGTGGGGAGCGCAGCAGCAGC	0.577													A	47496959	G	A	47496959	3	1	281	1	0	0	0	0	1	0	0	0	3245	1087	38	1	354	1	CELF1	11	47496959	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		47496959	87509557	35	19755											
ANO1	55107	broad.mit.edu	37	chr11	70009414	70009414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacgcccgggcgactacGtgtacattttccgttccttc	5	13	10	13	5	0	0	0	0	0	0	3	2	2	1	3	2	2	2	3	2	2	7			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:70009414G>A	uc001opj.3	+	18	2223	c.1918G>A	c.(1918-1920)Gtg>Atg	p.V640M	ANO1_uc001opl.2_Non-coding_Transcript|ANO1_uc001opk.1_Missense_Mutation_p.V582M|ANO1_uc010rqk.2_Missense_Mutation_p.V349M	NM_018043	NP_060513	Q5XXA6	ANO1_HUMAN	Homo sapiens anoctamin 1, calcium activated chloride channel (ANO1), transcript variant 1, mRNA.	640					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GGGCGACTACGTGTACATTTT	0.527													A	70009414	G	A	70009414	3	1	281	1	0	0	0	0	1	0	0	0	695	1145	40	1	1992	1	ANO1	11	70009414	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	22512455	70009414	64997102	36	19756											
NFRKB	4798	broad.mit.edu	37	chr11	129762715	129762715	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaccaagttccagaggAtctgtcagcatatggtctaa	12	9	10	10	1	3	1	1	0	2	1	4	3	4	3	2	3	1	2	2	3	3	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr11:129762715A>C	uc001qfg.3	-	0	190	c.69T>G	c.(67-69)gaT>gaG	p.D23E	NFRKB_uc001qfi.3_Missense_Mutation_p.D10E|NFRKB_uc001qfh.3_Missense_Mutation_p.D33E|NFRKB_uc010sbw.1_Missense_Mutation_p.D10E	NM_006165	NP_006156	Q6P4R8	NFRKB_HUMAN	Homo sapiens nuclear factor related to kappaB binding protein (NFRKB), transcript variant 2, mRNA.	10					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCCAGAGGATCTGTCAGCA	0.522													C	129762715	A	C	129762715	3	2	281	1	0	0	0	0	1	0	0	0	10460	330	12	5	4005	5	NFRKB	11	129762715	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08	59753301	129762715	5243801	37	19757											
CACNA1C	775	broad.mit.edu	37	chr12	2602399	2602399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccttgtgcgctggaaacGggccacgggcggcagtgcca	6	6	15	14	4	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	1	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:2602399G>A	uc009zdu.1	+	6	1273	c.960G>A	c.(958-960)acG>acA	p.T320T	CACNA1C_uc001qkc.2_Silent_p.T320T|CACNA1C_uc001qjz.2_Silent_p.T320T|CACNA1C_uc001qkd.2_Silent_p.T320T|CACNA1C_uc001qke.2_Silent_p.T320T|CACNA1C_uc001qkf.2_Silent_p.T320T|CACNA1C_uc009zdw.1_Silent_p.T320T|CACNA1C_uc001qkg.2_Silent_p.T320T|CACNA1C_uc001qkh.2_Silent_p.T320T|CACNA1C_uc001qkl.2_Silent_p.T320T|CACNA1C_uc001qkj.2_Silent_p.T320T|CACNA1C_uc001qkk.2_Silent_p.T320T|CACNA1C_uc001qkn.2_Silent_p.T320T|CACNA1C_uc001qkm.2_Silent_p.T320T|CACNA1C_uc001qko.2_Silent_p.T320T|CACNA1C_uc001qkp.2_Silent_p.T320T|CACNA1C_uc001qkq.2_Silent_p.T320T|CACNA1C_uc001qku.2_Silent_p.T320T|CACNA1C_uc001qkr.2_Silent_p.T320T|CACNA1C_uc001qks.2_Silent_p.T320T|CACNA1C_uc001qkt.2_Silent_p.T320T|CACNA1C_uc009zdv.1_Silent_p.T317T|CACNA1C_uc001qkb.2_Silent_p.T320T|CACNA1C_uc001qka.1_5'UTR|CACNA1C_uc001qki.1_Silent_p.T56T	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	320					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CGCTGGAAACGGGCCACGGGC	0.607													A	2602399	G	A	2602399	2	1	281	1	0	0	0	0	0	0	0	1	2566	1103	39	1		1	CACNA1C	12	2602399	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		2602399	131249496	38	19758											
CCDC41	51134	broad.mit.edu	37	chr12	94761893	94761893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggcagcttgtactttaCgtattaattcacgatccttt	8	18	6	9	2	1	0	1	0	0	0	2	1	2	0	1	1	3	4	1	1	4	9			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:94761893C>T	uc001tdd.3	-	9	1719	c.1133G>A	c.(1132-1134)cGt>cAt	p.R378H	CCDC41_uc001tde.3_Missense_Mutation_p.R378H|CCDC41_uc009zsw.1_Non-coding_Transcript	NM_016122	NP_057206	Q9Y592	CCD41_HUMAN	Homo sapiens coiled-coil domain containing 41 (CCDC41), transcript variant 1, mRNA.	370										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTGTACTTTACGTATTAATTC	0.333													T	94761893	C	T	94761893	3	4	281	1	0	0	0	0	1	0	0	0	2840	536	19	1	1004	1	CCDC41	12	94761893	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	92159494	94761893	39090002	39	19759											
STAB2	55576	broad.mit.edu	37	chr12	104102273	104102273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttgggagatggctcctGtgactgtgatgttggctggc	5	12	15	9	0	0	3	0	2	0	1	1	4	1	3	2	4	0	3	2	4	0	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr12:104102273G>T	uc001tjw.3	+	38	4433	c.4247G>T	c.(4246-4248)tGt>tTt	p.C1416F		NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN	Homo sapiens stabilin 2 (STAB2), mRNA.	1416					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GATGGCTCCTGTGACTGTGAT	0.478													T	104102273	G	T	104102273	3	4	281	1	0	0	0	0	1	0	0	0	15334	1377	48	4	4401	4	STAB2	12	104102273	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	9340380	104102273	29749622	40	19760											
PCID2	55795	broad.mit.edu	37	chr13	113852564	113852564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttgttgacacttctcCtctggagaggccatctgatt	9	13	9	10	0	3	4	0	2	3	2	4	5	3	4	2	2	0	1	2	2	1	4			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr13:113852564C>T	uc021rmt.1	-	2	222	c.141G>A	c.(139-141)gaG>gaA	p.E47E	PCID2_uc021rmq.1_Silent_p.E47E|PCID2_uc021rmr.1_Silent_p.E47E|PCID2_uc021rms.1_Silent_p.E47E|PCID2_uc001vtg.2_Non-coding_Transcript	NM_018386	NP_060856	Q5JVF3	PCID2_HUMAN	Homo sapiens PCI domain containing 2 (PCID2), transcript variant 3, mRNA.	47					negative regulation of apoptosis|negative regulation of cysteine-type endopeptidase activity|positive regulation of mitotic cell cycle spindle assembly checkpoint|positive regulation of transcription, DNA-dependent|regulation of mRNA stability|spleen development		protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)	20	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_lung(25;0.216)|all_epithelial(44;0.234)	all cancers(43;0.104)			GACACTTCTCCTCTGGAGAGG	0.358													T	113852564	C	T	113852564	2	4	281	1	0	0	0	0	0	0	0	1	11655	680	24	2		2	PCID2	13	113852564	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08		113852564	1317314	41	19761											
LRFN5	145581	broad.mit.edu	37	chr14	42356780	42356780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggagaccctgagcctgcaAttcactggatttctcctgaa	9	10	11	11	0	2	3	1	2	1	1	3	5	2	4	3	3	2	1	3	3	2	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr14:42356780A>G	uc001wvm.3	+	2	2150	c.952A>G	c.(952-954)Att>Gtt	p.I318V	LRFN5_uc010ana.3_Missense_Mutation_p.I318V	NM_152447	NP_689660	Q96NI6	LRFN5_HUMAN	Homo sapiens leucine rich repeat and fibronectin type III domain containing 5 (LRFN5), mRNA.	318	Ig-like.					integral to membrane		p.A317A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGCCTGCAATTCACTGGAT	0.463										HNSCC(30;0.082)			G	42356780	A	G	42356780	3	3	281	1	0	0	0	0	1	0	0	0	9011	101	4	3	954	3	LRFN5	14	42356780	Missense_Mutation	SNP	A	TCGA-81-5910-01A-11D-1696-08		42356780	64992760	42	19762											
NDN	4692	broad.mit.edu	37	chr15	23931738	23931738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcgcagcacgttccagacGgcgctctctctggcgccgcg	5	7	13	16	7	2	1	0	0	2	1	4	1	3	1	2	2	2	4	2	2	0	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr15:23931738G>A	uc001ywk.3	-	0	713	c.627C>T	c.(625-627)gcC>gcT	p.A209A		NM_002487	NP_002478	Q99608	NECD_HUMAN	Homo sapiens necdin homolog (mouse) (NDN), mRNA.	209	MAGE.				negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		CGTTCCAGACGGCGCTCTCTC	0.632									Prader-Willi syndrome				A	23931738	G	A	23931738	2	1	281	1	0	0	0	0	0	0	0	1	10323	1103	39	1		1	NDN	15	23931738	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		23931738	78599654	43	19763											
ACSM1	116285	broad.mit.edu	37	chr16	20651783	20651783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtttgcaccacctacCgtttccgactgcccatagtt	6	14	7	14	2	1	0	0	0	1	0	2	1	2	0	5	1	3	4	5	1	2	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:20651783C>T	uc002dhm.1	-	7	1184	c.1116_splice	c.e7+1	p.T372_splice	ACSM1_uc002dhn.1_Intron|ACSM1_uc010bwg.1_Splice_Site_p.T372_splice	NM_052956	NP_443188	Q08AH1	ACSM1_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 1 (ACSM1), mRNA.	372					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						caCCACCTACCGTTTCCGACT	0.483													T	20651783	C	T	20651783	2	4	281	1	0	0	0	0	0	0	0	1	182	666	23	1		1	ACSM1	16	20651783	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08		20651783	69702970	44	19764											
SCNN1B	6338	broad.mit.edu	37	chr16	23387159	23387159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatactgcaacaaccGggacttcccagactggggtg	12	6	13	10	1	0	2	0	0	0	2	1	4	1	3	2	4	4	1	2	4	4	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:23387159G>A	uc002dln.3	+	7	1429	c.1253G>A	c.(1252-1254)cGg>cAg	p.R418Q		NM_000336	NP_000327	P51168	SCNNB_HUMAN	Homo sapiens sodium channel, nonvoltage-gated 1, beta (SCNN1B), mRNA.	418					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	TGCAACAACCGGGACTTCCCA	0.612													A	23387159	G	A	23387159	3	1	281	1	0	0	0	0	1	0	0	0	14021	1116	39	1	1279	1	SCNN1B	16	23387159	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	2735376	23387159	66967594	45	19765											
PKD1L2	114780	broad.mit.edu	37	chr16	81181775	81181775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggtgtcagaaggccGtcctccatgggctgtgggga	6	8	16	11	1	2	1	2	0	0	1	4	2	4	2	4	5	0	1	4	5	1	0			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:81181775G>A	uc002fgh.1	-	28	4941	c.4941C>T	c.(4939-4941)gaC>gaT	p.D1647D	PKD1L2_uc002fgg.1_Non-coding_Transcript	NM_052892	NP_443124	Q7Z442	PK1L2_HUMAN	Homo sapiens polycystic kidney disease 1-like 2 (PKD1L2), transcript variant 1, mRNA.	1647					neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCAGAAGGCCGTCCTCCATGG	0.642													A	81181775	G	A	81181775	2	1	281	1	0	0	0	0	0	0	0	1	12042	1136	40	1		1	PKD1L2	16	81181775	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08	57794616	81181775	9172978	46	19766											
MTHFSD	64779	broad.mit.edu	37	chr16	86585659	86585659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaccagcagccgaaCgccttccagtggtttatcag	9	8	10	14	2	1	0	1	0	0	0	2	1	2	0	4	1	5	4	4	1	2	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr16:86585659C>T	uc002fjn.3	-	2	268	c.217G>A	c.(217-219)Gtt>Att	p.V73I	MTHFSD_uc002fjm.3_Missense_Mutation_p.V72I|MTHFSD_uc010voo.2_Missense_Mutation_p.V53I|MTHFSD_uc010vop.2_5'UTR|MTHFSD_uc010voq.2_Intron|MTHFSD_uc010vor.2_Intron|MTHFSD_uc002fjo.3_Intron|MTHFSD_uc002fjp.2_Missense_Mutation_p.V53I	NM_001159377	NP_001152849	Q2M296	MTHSD_HUMAN	Homo sapiens methenyltetrahydrofolate synthetase domain containing (MTHFSD), transcript variant 1, mRNA.	73					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						AGCAGCCGAACGCCTTCCAGT	0.537													T	86585659	C	T	86585659	3	4	281	1	0	0	0	0	1	0	0	0	10009	536	19	1	958	1	MTHFSD	16	86585659	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	5403884	86585659	3769094	47	19767											
GLP2R	9340	broad.mit.edu	37	chr17	9783793	9783793	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgaaggatttgcaaaacTtatacgacttttcattcagt	13	15	7	6	1	2	1	2	1	0	0	2	3	2	2	0	1	3	2	0	1	5	7			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:9783793T>G	uc002gmd.1	+	10	1244	c.1244T>G	c.(1243-1245)cTt>cGt	p.L415R		NM_004246	NP_004237	O95838	GLP2R_HUMAN	Homo sapiens glucagon-like peptide 2 receptor (GLP2R), mRNA.	415					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TTTGCAAAACTTATACGACTT	0.393													G	9783793	T	G	9783793	3	3	281	1	0	0	0	0	1	0	0	0	6509	1609	56	5	1286	5	GLP2R	17	9783793	Missense_Mutation	SNP	T	TCGA-81-5910-01A-11D-1696-08		9783793	71411417	48	19768											
PRKCA	5578	broad.mit.edu	37	chr17	64299034	64299034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccaaccgcttcgcccGcaaaggggcgctgaggcaga	8	4	15	14	5	0	2	0	1	0	1	1	2	0	2	3	4	1	4	3	4	2	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr17:64299034G>A	uc002jfo.1	+	0					PRKCA_uc002jfp.1_Missense_Mutation_p.R22H			P17252	KPCA_HUMAN	Homo sapiens protein kinase C, alpha (PRKCA), mRNA.						activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CGCTTCGCCCGCAAAGGGGCG	0.642													A	64299034	G	A	64299034	3	1	281	1	0	0	0	0	1	0	0	0	12593	1087	38	1	67	1	PRKCA	17	64299034	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	54515241	64299034	16896176	49	19769											
LAMA1	284217	broad.mit.edu	37	chr18	6956725	6956725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagcaggtgtccaggtcGacttgctcatggccaactgc	8	8	12	13	1	1	0	1	0	0	0	3	1	2	0	3	3	5	2	3	3	1	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:6956725G>A	uc002knm.3	-	55	8098	c.8004C>T	c.(8002-8004)gtC>gtT	p.V2668V	LAMA1_uc002knk.3_5'Flank|LAMA1_uc002knl.3_Silent_p.V121V|LAMA1_uc010wzj.2_Silent_p.V2144V	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2668	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTCCAGGTCGACTTGCTCAT	0.512													A	6956725	G	A	6956725	2	1	281	1	0	0	0	0	0	0	0	1	8664	1045	37	1		1	LAMA1	18	6956725	Silent	SNP	G	TCGA-81-5910-01A-11D-1696-08		6956725	71120523	50	19770											
SETBP1	26040	broad.mit.edu	37	chr18	42532158	42532158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcaaaaccgcgatgacctCcagtttctggcagacctgga	10	8	10	13	2	1	2	0	1	1	1	2	4	2	3	4	2	2	3	4	2	2	1			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr18:42532158C>T	uc010dni.3	+	3	3149	c.2853C>T	c.(2851-2853)ctC>ctT	p.L951L		NM_015559	NP_056374	Q9Y6X0	SETBP_HUMAN	Homo sapiens SET binding protein 1 (SETBP1), transcript variant 1, mRNA.	951						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GCGATGACCTCCAGTTTCTGG	0.502									Schinzel-Giedion syndrome				T	42532158	C	T	42532158	2	4	281	1	0	0	0	0	0	0	0	1	14222	842	30	2		2	SETBP1	18	42532158	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	35575433	42532158	35545090	51	19771											
FBN3	84467	broad.mit.edu	37	chr19	8130913	8130913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggctcaccacctccagccGgtaggttccaggccccggcc	5	6	12	18	2	1	0	1	0	0	0	3	0	3	0	8	5	1	3	8	5	1	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:8130913G>A	uc002mjf.3	-	62	8337	c.8320C>T	c.(8320-8322)Cgg>Tgg	p.R2774W	FBN3_uc002mje.3_Missense_Mutation_p.R570W	NM_032447	NP_115823	Q75N90	FBN3_HUMAN	Homo sapiens fibrillin 3 (FBN3), mRNA.	2774						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R2774L(1)		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						ACCTCCAGCCGGTAGGTTCCA	0.677													A	8130913	G	A	8130913	3	1	281	1	0	0	0	0	1	0	0	0	5753	1115	39	1	113	1	FBN3	19	8130913	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08		8130913	50998070	52	19772											
ZNF536	9745	broad.mit.edu	37	chr19	30934790	30934790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttgcagcagttcctcaaCgggcagaacctgggcatcat	10	8	11	12	1	2	1	2	0	0	1	3	2	3	1	2	2	4	5	2	2	2	2	rs144245375		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:30934790C>T	uc002nsu.1	+	1	459	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ZNF536_uc010edd.1_Silent_p.N107N	NM_014717	NP_055532	O15090	ZN536_HUMAN	Homo sapiens zinc finger protein 536 (ZNF536), mRNA.	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGTTCCTCAACGGGCAGAACC	0.652													T	30934790	C	T	30934790	2	4	281	1	0	0	0	0	0	0	0	1	18075	535	19	1		1	ZNF536	19	30934790	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	22803877	30934790	28194193	53	19773											
PDCD2L	84306	broad.mit.edu	37	chr19	34895691	34895691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacgtgttcgcgtgcgcctgCcccggctgtagcaccggcgg	3	7	15	16	7	0	0	0	0	0	0	1	0	0	0	4	3	3	4	4	3	1	2			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:34895691C>T	uc002nvj.3	+	1	279	c.246C>T	c.(244-246)tgC>tgT	p.C82C		NM_032346	NP_115722	Q9BRP1	PDD2L_HUMAN	Homo sapiens programmed cell death 2-like (PDCD2L), mRNA.	82						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			CGTGCGCCTGCCCCGGCTGTA	0.721													T	34895691	C	T	34895691	2	4	281	1	0	0	0	0	0	0	0	1	11696	747	26	2		2	PDCD2L	19	34895691	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	3960901	34895691	24233292	54	19774											
RYR1	6261	broad.mit.edu	37	chr19	38990276	38990276	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccatgcgggtggccaggCgagagcgtggaggagaacgc	8	4	18	11	4	0	2	0	0	0	2	1	5	1	3	3	5	3	0	3	5	1	0	rs138617219		TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:38990276C>T	uc002oit.3	+	44	7158	c.7028_splice	c.e44-1	p.G2343_splice	RYR1_uc002oiu.3_Splice_Site_p.G2343_splice|RYR1_uc002oiv.1_Splice_Site	NM_000540	NP_000531	P21817	RYR1_HUMAN	Homo sapiens ryanodine receptor 1 (skeletal) (RYR1), transcript variant 1, mRNA.	2343	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGGCCAGGCGAGAGCGTGG	0.667													T	38990276	C	T	38990276	2	4	281	1	0	0	0	0	0	0	0	1	13859	782	27	1		1	RYR1	19	38990276	Silent	SNP	C	TCGA-81-5910-01A-11D-1696-08	4094585	38990276	20138707	55	19775											
NLRP12	91662	broad.mit.edu	37	chr19	54312898	54312898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgcggtcttccccgtccGcgctgtaggtggcgccatac	3	9	13	16	7	1	0	0	0	1	0	4	0	3	0	4	3	1	2	4	3	2	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr19:54312898G>A	uc002qcj.4	-	2	2235	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	NLRP12_uc010eqw.3_5'Flank|NLRP12_uc002qch.4_Missense_Mutation_p.A672V|NLRP12_uc002qci.4_Missense_Mutation_p.A672V|NLRP12_uc002qck.4_Non-coding_Transcript|NLRP12_uc010eqx.3_Missense_Mutation_p.A672V	NM_144687	NP_653288	P59046	NAL12_HUMAN	Homo sapiens NLR family, pyrin domain containing 12 (NLRP12), transcript variant 2, mRNA.	672					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TTCCCCGTCCGCGCTGTAGGT	0.622													A	54312898	G	A	54312898	3	1	281	1	0	0	0	0	1	0	0	0	10550	1087	38	1	1298	1	NLRP12	19	54312898	Missense_Mutation	SNP	G	TCGA-81-5910-01A-11D-1696-08	15322622	54312898	4816085	56	19776											
MYH9	4627	broad.mit.edu	37	chr22	36714329	36714329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggattcctctggtgaaatCggtcacattgatacccaaga	12	10	10	9	1	2	3	1	2	1	1	4	5	3	4	2	3	1	0	2	3	3	3			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:36714329C>T	uc003apg.3	-	10	1381	c.1150G>A	c.(1150-1152)Gat>Aat	p.D384N	MYH9_uc003aph.1_Missense_Mutation_p.D248N	NM_002473	NP_002464	P35579	MYH9_HUMAN	Homo sapiens myosin, heavy chain 9, non-muscle (MYH9), mRNA.	384	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CTGGTGAAATCGGTCACATTG	0.502			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				T	36714329	C	T	36714329	3	4	281	1	0	0	0	0	1	0	0	0	10118	884	31	1	4856	1	MYH9	22	36714329	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		36714329	14590237	57	19777											
CELSR1	9620	broad.mit.edu	37	chr22	46829324	46829324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcacagagtgccacCgcccgtcactcacaccactg	9	5	8	19	2	2	1	2	0	0	1	2	1	2	1	5	0	2	2	5	0	0	0			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chr22:46829324C>T	uc003bhw.1	-	4	4577	c.4577G>A	c.(4576-4578)cGg>cAg	p.R1526Q		NM_014246	NP_055061	Q9NYQ6	CELR1_HUMAN	Homo sapiens cadherin, EGF LAG seven-pass G-type receptor 1 (flamingo homolog, Drosophila) (CELSR1), mRNA.	1526	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGAGTGCCACCGCCCGTCACT	0.647													T	46829324	C	T	46829324	3	4	281	1	0	0	0	0	1	0	0	0	3251	652	23	1	4591	1	CELSR1	22	46829324	Missense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08	10114995	46829324	4475242	58	19778											
STAG2	10735	broad.mit.edu	37	chrX	123171416	123171416	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatcatacaagcatgacCgagatatagcacttcttgac	15	10	7	9	1	2	4	1	2	1	2	2	5	2	4	1	0	3	2	1	0	6	6			TCGA-81-5910-01A-11D-1696-08	TCGA-81-5910-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcf79a66-30e6-4554-982e-38d8eab46114	ea0956e4-5094-419f-b786-95d4160723f4	g.chrX:123171416C>T	uc004eua.3	+	5	732	c.328C>T	c.(328-330)Cga>Tga	p.R110*	STAG2_uc004etz.4_Nonsense_Mutation_p.R110*|STAG2_uc004eub.3_Nonsense_Mutation_p.R110*|STAG2_uc004euc.3_Nonsense_Mutation_p.R110*|STAG2_uc004eud.3_Nonsense_Mutation_p.R110*|STAG2_uc004eue.3_Nonsense_Mutation_p.R110*	NM_001042749	NP_001036215	Q8N3U4	STAG2_HUMAN	Homo sapiens stromal antigen 2 (STAG2), transcript variant 1, mRNA.	110					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAAGCATGACCGAGATATAGC	0.323													T	123171416	C	T	123171416	4	4	281	1	0	0	0	0	0	1	0	0	15339	644	23	1	342	1	STAG2	23	123171416	Nonsense_Mutation	SNP	C	TCGA-81-5910-01A-11D-1696-08		123171416	32099144	59	19779											
THAP3	90326	broad.mit.edu	37	chr1	6692962	6692962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctgatcacagctatgcccTtttggacttagattccctga	9	14	7	11	0	2	3	1	2	1	1	3	4	3	4	2	1	2	1	2	1	2	5			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:6692962T>C	uc001aoc.3	+	5	704	c.545T>C	c.(544-546)cTt>cCt	p.L182P	THAP3_uc001aod.3_Missense_Mutation_p.L181P|THAP3_uc001aoe.2_Intron	NM_001195753	NP_001182682	Q8WTV1	THAP3_HUMAN	Homo sapiens THAP domain containing, apoptosis associated protein 3 (THAP3), transcript variant 3, mRNA.	182							DNA binding|metal ion binding	p.L182P(1)		breast(1)|cervix(1)|large_intestine(1)|prostate(1)	4	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		AGCTATGCCCTTTTGGACTTA	0.567													C	6692962	T	C	6692962	3	2	282	1	0	0	0	0	1	0	0	0	15945	1624	56	3		3	THAP3	1	6692962	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		6692962	242557659	1	19780											
NOTCH2	4853	broad.mit.edu	37	chr1	120512286	120512286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacacagccatagcctccaTtgcggttggcacaggtgccc	9	8	10	14	1	0	0	0	0	0	0	1	0	1	0	4	3	5	2	4	3	2	4	rs144936899		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:120512286T>C	uc001eik.3	-	5	1253	c.956A>G	c.(955-957)aAt>aGt	p.N319S	NOTCH2_uc001eil.3_Missense_Mutation_p.N319S|NOTCH2_uc021osy.1_Missense_Mutation_p.N280S|NOTCH2_uc001eim.4_Missense_Mutation_p.N236S	NM_024408	NP_077719	Q04721	NOTC2_HUMAN	Homo sapiens notch 2 (NOTCH2), transcript variant 1, mRNA.	319	EGF-like 8; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATAGCCTCCATTGCGGTTGGC	0.532			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				C	120512286	T	C	120512286	3	2	282	1	0	0	0	0	1	0	0	0	10624	1493	52	3	6575	3	NOTCH2	1	120512286	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08	113819324	120512286	128738335	2	19781											
TCHH	7062	broad.mit.edu	37	chr1	152081317	152081317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgcggaattttctgtgaCgctcctggcgcagctgctgt	4	13	12	12	4	1	1	0	1	1	0	3	2	2	2	1	2	2	4	1	2	1	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr1:152081317C>T	uc009wne.1	-	2	4648	c.4376G>A	c.(4375-4377)cGt>cAt	p.R1459H	TCHH_uc001ezp.2_Missense_Mutation_p.R1459H	NM_007113	NP_009044	Q07283	TRHY_HUMAN	Homo sapiens trichohyalin (TCHH), mRNA.	1459	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTTCTGTGACGCTCCTGGCG	0.547													T	152081317	C	T	152081317	3	4	282	1	0	0	0	0	1	0	0	0	15800	536	19	1	1459	1	TCHH	1	152081317	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	31569031	152081317	97169304	3	19782											
SOS1	6654	broad.mit.edu	37	chr2	39234297	39234297	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataattcgactcaccacagCtactctttcttctaaatttt	12	16	2	11	1	4	0	1	0	3	0	5	1	4	0	1	0	2	1	1	0	5	8			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:39234297C>A	uc002rrk.4	-	15	2589	c.2548G>T	c.(2548-2550)Gct>Tct	p.A850S	SOS1_uc002rrj.4_Missense_Mutation_p.A464S	NM_005633	NP_005624	Q07889	SOS1_HUMAN	Homo sapiens son of sevenless homolog 1 (Drosophila) (SOS1), mRNA.	850	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				CTCACCACAGCTACTCTTTCT	0.323									Noonan syndrome				A	39234297	C	A	39234297	3	1	282	1	0	0	0	0	1	0	0	0	15030	797	28	4	1485	4	SOS1	2	39234297	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		39234297	203965076	4	19783											
IL1RL2	8808	broad.mit.edu	37	chr2	102805705	102805705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctagaattcaccaggaCgagacttggattttgtttct	10	14	9	8	1	3	2	1	0	2	2	3	5	3	4	1	2	0	1	1	2	2	6			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:102805705C>T	uc002tbs.3	+	2	354	c.228C>T	c.(226-228)gaC>gaT	p.D76D	IL1RL2_uc002tbt.3_Intron	NM_003854	NP_003845	Q9HB29	ILRL2_HUMAN	Homo sapiens interleukin 1 receptor-like 2 (IL1RL2), mRNA.	76	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTCACCAGGACGAGACTTGGA	0.398													T	102805705	C	T	102805705	2	4	282	1	0	0	0	0	0	0	0	1	7722	535	19	1		1	IL1RL2	2	102805705	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	63571408	102805705	140393668	5	19784											
PLEKHM3	389072	broad.mit.edu	37	chr2	208842070	208842070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctttagctgtagctgaGtgttgtcatacaaaacagta	11	13	9	8	0	1	1	1	1	0	0	1	1	1	1	1	0	5	5	1	0	6	6			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr2:208842070G>C	uc002vcl.2	-	2	1341	c.851C>G	c.(850-852)aCt>aGt	p.T284S	PLEKHM3_uc002vcm.2_Missense_Mutation_p.T284S	NM_001080475	NP_001073944	Q6ZWE6	PKHM3_HUMAN	Homo sapiens pleckstrin homology domain containing, family M, member 3 (PLEKHM3), mRNA.	284	PH 1.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CTGTAGCTGAGTGTTGTCATA	0.512													C	208842070	G	C	208842070	3	2	282	1	0	0	0	0	1	0	0	0	12159	1029	36	4	1458	4	PLEKHM3	2	208842070	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	106036365	208842070	34357303	6	19785											
CNTN6	27255	broad.mit.edu	37	chr3	1424680	1424680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatatatcatcatgttcCggccagtgggctcgacaacc	9	11	10	11	2	2	0	2	0	0	0	4	2	3	1	3	3	1	2	3	3	3	4			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr3:1424680C>T	uc003boz.3	+	17	2488	c.2221C>T	c.(2221-2223)Cgg>Tgg	p.R741W	CNTN6_uc011asj.2_Missense_Mutation_p.R669W|CNTN6_uc003bpa.3_Missense_Mutation_p.R741W	NM_014461	NP_055276	Q9UQ52	CNTN6_HUMAN	Homo sapiens contactin 6 (CNTN6), mRNA.	741	Fibronectin type-III 2.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CATCATGTTCCGGCCAGTGGG	0.433													T	1424680	C	T	1424680	3	4	282	1	0	0	0	0	1	0	0	0	3676	643	23	1	2287	1	CNTN6	3	1424680	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		1424680	196597750	7	19786											
FRAS1	80144	broad.mit.edu	37	chr4	79400817	79400817	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcattagtggtcccaaCgatgcctcgactgtgtccct	6	12	10	13	2	1	0	1	0	0	0	4	2	3	0	3	1	3	1	3	1	2	1			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:79400817C>T	uc003hlb.2	+	55	8828	c.8388C>T	c.(8386-8388)aaC>aaT	p.N2796N		NM_025074	NP_079350	Q86XX4	FRAS1_HUMAN	Homo sapiens Fraser syndrome 1 (FRAS1), transcript variant 1, mRNA.	2791	Calx-beta 3.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTGGTCCCAACGATGCCTCGA	0.532													T	79400817	C	T	79400817	2	4	282	1	0	0	0	0	0	0	0	1	6093	535	19	1		1	FRAS1	4	79400817	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08		79400817	111753459	8	19787											
SLC10A6	345274	broad.mit.edu	37	chr4	87749309	87749309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggaggaccccaccaaCaacggccccaatctgaagca	15	2	9	15	1	1	2	0	1	1	1	1	4	1	4	5	3	3	1	5	3	5	0			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr4:87749309C>T	uc003hqd.2	-	3	746	c.598G>A	c.(598-600)Gtt>Att	p.V200I		NM_197965	NP_932069	Q3KNW5	SOAT_HUMAN	Homo sapiens solute carrier family 10 (sodium/bile acid cotransporter family), member 6 (SLC10A6), mRNA.	200						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		ACCCCACCAACAACGGCCCCA	0.443													T	87749309	C	T	87749309	3	4	282	1	0	0	0	0	1	0	0	0	14472	478	17	2	547	2	SLC10A6	4	87749309	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	8348492	87749309	103404967	9	19788											
RAMP3	10268	broad.mit.edu	37	chr7	45216936	45216936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagagcaggcggctgcaaCgagacaggcatgttggagag	11	4	16	10	2	0	3	0	0	0	3	0	5	0	3	1	4	3	5	1	4	1	1	rs145890722	byFrequency	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:45216936C>T	uc003tnb.3	+	1	148	c.87C>T	c.(85-87)aaC>aaT	p.N29N		NM_005856	NP_005847	O60896	RAMP3_HUMAN	Homo sapiens receptor (G protein-coupled) activity modifying protein 3 (RAMP3), mRNA.	29					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	GCGGCTGCAACGAGACAGGCA	0.597													T	45216936	C	T	45216936	2	4	282	1	0	0	0	0	0	0	0	1	13111	535	19	1		1	RAMP3	7	45216936	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08		45216936	113921727	10	19789											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:55221822C>T	uc003tqk.3	+	6	1112	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_uc003tqh.3_Missense_Mutation_p.A289V|EGFR_uc003tqi.3_Missense_Mutation_p.A289V|EGFR_uc003tqj.3_Missense_Mutation_p.A289V|EGFR_uc022adm.1_Missense_Mutation_p.A289V|EGFR_uc010kzg.2_Missense_Mutation_p.A244V|EGFR_uc022adn.1_Missense_Mutation_p.A244V|EGFR_uc011kco.2_Missense_Mutation_p.A236V|EGFR_uc011kcp.1_5'Flank|EGFR_uc011kcq.1_5'Flank	NM_005228	NP_005219	P00533	EGFR_HUMAN	Homo sapiens epidermal growth factor receptor (EGFR), transcript variant 1, mRNA.	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(40)|p.A289D(6)|p.V30_R297>G(5)|p.A289T(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	282	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	10004886	55221822	103916841	11	19790											
DTX2	113878	broad.mit.edu	37	chr7	76112453	76112453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggatcctccacctcCggtgcagtcaggtatcgtgg	6	8	11	16	2	1	0	1	0	0	0	5	1	4	1	6	4	1	2	6	4	1	1			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:76112453C>T	uc011kgk.1	+	2	976	c.624C>T	c.(622-624)tcC>tcT	p.S208S	DTX2_uc003uff.4_Silent_p.S299S|DTX2_uc003ufg.4_Silent_p.S299S|DTX2_uc003ufh.4_Silent_p.S299S|DTX2_uc003ufj.4_Silent_p.S299S	NM_020892	NP_065943	Q86UW9	DTX2_HUMAN	Homo sapiens deltex homolog 2 (Drosophila) (DTX2), transcript variant 1, mRNA.	299					Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						CCTCCACCTCCGGTGCAGTCA	0.662													T	76112453	C	T	76112453	2	4	282	1	0	0	0	0	0	0	0	1	4833	639	23	1		1	DTX2	7	76112453	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	20890631	76112453	83026210	12	19791											
OR2A2	442361	broad.mit.edu	37	chr7	143807297	143807297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtgtttgtcttagtcGggcctctttccttgattctg	2	19	10	10	1	3	1	0	1	3	0	5	1	4	1	3	1	0	1	3	1	1	5			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr7:143807297G>A	uc011ktz.2	+	0	622	c.622G>A	c.(622-624)Ggg>Agg	p.G208R		NM_001005480	NP_001005480	Q6IF42	OR2A2_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily A, member 2 (OR2A2), mRNA.	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					TGTCTTAGTCGGGCCTCTTTC	0.522													A	143807297	G	A	143807297	3	1	282	1	0	0	0	0	1	0	0	0	11053	1116	39	1	624	1	OR2A2	7	143807297	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	67694844	143807297	15331366	13	19792											
CSMD3	114788	broad.mit.edu	37	chr8	114290824	114290824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccactaccatcacttaccttCgtaatataccttaaatccat	13	13	1	14	1	1	0	1	0	0	0	3	0	2	0	5	0	3	1	5	0	7	7			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:114290824C>T	uc003ynu.3	-	2	670	c.511G>A	c.(511-513)Gaa>Aaa	p.E171K	CSMD3_uc003ynt.3_Missense_Mutation_p.E131K|CSMD3_uc011lhx.2_Missense_Mutation_p.E171K|CSMD3_uc010mcx.1_Missense_Mutation_p.E171K	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN	Homo sapiens CUB and Sushi multiple domains 3 (CSMD3), transcript variant a, mRNA.	171	CUB 1.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CACTTACCTTCGTAATATACC	0.378										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	114290824	C	T	114290824	3	4	282	1	0	0	0	0	1	0	0	0	3979	893	31	1	10888	1	CSMD3	8	114290824	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		114290824	32073198	14	19793											
DENND3	22898	broad.mit.edu	37	chr8	142151330	142151330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtttctacaatggcaaaaCgcaccgggagtgtcctggct	9	10	11	11	2	1	0	0	0	1	0	2	1	2	1	2	3	2	4	2	3	4	2			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr8:142151330C>T	uc003yvy.3	+	3	568	c.290C>T	c.(289-291)aCg>aTg	p.T97M	DENND3_uc003yvw.1_Missense_Mutation_p.T110M|DENND3_uc003yvx.3_Missense_Mutation_p.R176C|DENND3_uc010mep.3_Missense_Mutation_p.T110M	NM_014957	NP_055772	A2RUS2	DEND3_HUMAN	Homo sapiens DENN/MADD domain containing 3 (DENND3), mRNA.	97										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AATGGCAAAACGCACCGGGAG	0.532													T	142151330	C	T	142151330	3	4	282	1	0	0	0	0	1	0	0	0	4471	536	19	1	300	1	DENND3	8	142151330	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	27860506	142151330	4212692	15	19794											
PTEN	5728	broad.mit.edu	37	chr10	89692923	89692923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactggtgtaatgatatGtgcatatttattacatcggg	12	14	10	5	2	0	1	0	1	0	0	1	2	0	1	0	2	3	2	0	2	6	6			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr10:89692923G>A	uc001kfb.3	+	4	1439	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	PTEN_uc021pvw.1_Non-coding_Transcript	NM_000314	NP_000305	P60484	PTEN_HUMAN	Homo sapiens phosphatase and tensin homolog (PTEN), mRNA.	136	Phosphatase tensin-type.		C -> Y (in CD; loss of phosphatase activity towards Ins(1,3,4,5)P3).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C136Y(16)|p.C136F(10)|p.C136R(5)|p.?(5)|p.R55fs*1(5)|p.C136fs*1(4)|p.I135K(3)|p.I135fs*44(3)|p.I135fs*45(3)|p.I135V(2)|p.Y27_N212>Y(2)|p.A121_F145del(2)|p.I135_A137>T(2)|p.I135fs*6(2)|p.Y27fs*1(2)|p.I135fs*12(1)|p.T131fs*42(1)|p.C136_A137insGM(1)|p.I135del(1)|p.F56fs*2(1)|p.I135M(1)|p.C136W(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GTAATGATATGTGCATATTTA	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692923	G	A	89692923	3	1	282	1	0	0	0	0	1	0	0	0	12823	1377	48	2	425	2	PTEN	10	89692923	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		89692923	45841824	16	19795											
OR4C11	219429	broad.mit.edu	37	chr11	55371120	55371120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagaataagatgactaCaattatgtgagacgtgcaag	17	8	10	6	1	0	4	0	2	0	3	0	5	0	4	1	0	2	1	1	0	7	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55371120C>G	uc010rii.2	-	0	755	c.730G>C	c.(730-732)Gta>Cta	p.V244L		NM_001004700	NP_001004700	Q6IEV9	OR4CB_HUMAN	Homo sapiens olfactory receptor, family 4, subfamily C, member 11 (OR4C11), mRNA.	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AAGATGACTACAATTATGTGA	0.408													G	55371120	C	G	55371120	3	3	282	1	0	0	0	0	1	0	0	0	11121	478	17	4	204	4	OR4C11	11	55371120	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		55371120	79635396	17	19796											
OR5D13	390142	broad.mit.edu	37	chr11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgatctgcaagtgggCgccagaaaactttctccacc	11	8	10	12	2	2	2	0	0	2	2	3	3	2	2	3	1	3	1	3	1	3	1			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55541619C>T	uc010ril.2	+	0	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967	NP_001001967	Q8NGL4	OR5DD_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily D, member 13 (OR5D13), mRNA.	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G235W(1)|p.R236H(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408													T	55541619	C	T	55541619	3	4	282	1	0	0	0	0	1	0	0	0	11230	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	170499	55541619	79464897	18	19797											
OR5AS1	219447	broad.mit.edu	37	chr11	55798503	55798503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgctctttgctttgtgCagcttcatccagaccagcac	6	14	7	14	0	3	1	1	0	2	1	4	1	4	1	2	0	5	5	2	0	0	4			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:55798503C>T	uc010riw.2	+	0	609	c.609C>T	c.(607-609)tgC>tgT	p.C203C		NM_001001921	NP_001001921	Q8N127	O5AS1_HUMAN	Homo sapiens olfactory receptor, family 5, subfamily AS, member 1 (OR5AS1), mRNA.	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					TTGCTTTGTGCAGCTTCATCC	0.423													T	55798503	C	T	55798503	2	4	282	1	0	0	0	0	0	0	0	1	11222	718	25	2		2	OR5AS1	11	55798503	Silent	SNP	C	TCGA-81-5911-01A-12D-1845-08	256884	55798503	79208013	19	19798											
FADS2	9415	broad.mit.edu	37	chr11	61615699	61615699	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcctaacatcttccacaaGgatcccgatgtgaacatgct	13	9	7	12	1	1	1	0	1	1	0	3	3	3	2	3	1	4	1	3	1	4	2			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:61615699G>A	uc001nsl.1	+	4	837	c.687G>A	c.(685-687)aaG>aaA	p.K229K	FADS2_uc001nsj.2_Silent_p.K207K|FADS2_uc010rlo.1_Silent_p.K198K|FADS2_uc001nsk.3_Silent_p.K229K	NM_004265	NP_004256	O95864	FADS2_HUMAN	Homo sapiens fatty acid desaturase 2 (FADS2), mRNA.	229					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCTTCCACAAGGATCCCGATG	0.557													A	61615699	G	A	61615699	2	1	282	1	0	0	0	0	0	0	0	1	5411	991	35	2		2	FADS2	11	61615699	Silent	SNP	G	TCGA-81-5911-01A-12D-1845-08	5817196	61615699	73390817	20	19799											
VEGFB	7423	broad.mit.edu	37	chr11	64004662	64004663	+	Frame_Shift_Ins	INS	-	-	A																															ctatcttacttttcagacctINSaaaaaaaaggacagtgctgt																										TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:64004662_64004663insA	uc001nyw.3	+	4	628_629	c.378_379insA	c.(376-381)cctaaafs	p.P126fs	VEGFB_uc001nyx.3_Frame_Shift_Ins_p.P126fs	NM_003377	NP_003368	P49765	VEGFB_HUMAN	Homo sapiens vascular endothelial growth factor B (VEGFB), transcript variant VEGFB-186, mRNA.	126					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding	p.K129fs*5(2)		endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TTTTCAGACCTAAAAAAAAGGA	0.47													A	64004663	-	A	64004662	7	5	282	1	0	1	1	0	0	0	0	0	17253	1509	53	0	396	0	VEGFB	11	64004662	Frame_Shift_Ins	INS	-	TCGA-81-5911-01A-12D-1845-08	2388963	64004662	71001854	21	19800											
CWF19L2	143884	broad.mit.edu	37	chr11	107224390	107224390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctcttcaccaagacGttctctctcagctgctttgg	5	15	6	15	1	5	1	2	0	4	1	8	1	6	1	2	1	2	3	2	1	1	4	rs146937549	by1000genomes	TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr11:107224390G>A	uc010rvp.2	-	12	1975	c.1945C>T	c.(1945-1947)Cgt>Tgt	p.R649C	CWF19L2_uc001pjh.4_Non-coding_Transcript|CWF19L2_uc009yxo.3_Non-coding_Transcript	NM_152434	NP_689647	Q2TBE0	C19L2_HUMAN	Homo sapiens CWF19-like 2, cell cycle control (S. pombe) (CWF19L2), mRNA.	649							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TCACCAAGACGTTCTCTCTCA	0.403													A	107224390	G	A	107224390	3	1	282	1	0	0	0	0	1	0	0	0	4105	1145	40	1	763	1	CWF19L2	11	107224390	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08	43219728	107224390	27782126	22	19801											
CACNA1C	775	broad.mit.edu	37	chr12	2795380	2795380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgaagcgacagaaggaccGagggggagacatctctcaga	13	5	14	9	2	3	4	1	1	2	3	4	8	3	5	1	3	1	0	1	3	2	0			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr12:2795380G>A	uc009zdu.1	+	47	6291	c.5978G>A	c.(5977-5979)cGa>cAa	p.R1993Q	CACNA1C_uc001qkc.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qjz.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkd.2_Missense_Mutation_p.R1929Q|CACNA1C_uc001qke.2_Missense_Mutation_p.R1899Q|CACNA1C_uc001qkf.2_Missense_Mutation_p.R1918Q|CACNA1C_uc009zdw.1_Missense_Mutation_p.R1951Q|CACNA1C_uc001qkg.2_Missense_Mutation_p.R1916Q|CACNA1C_uc001qkh.2_Missense_Mutation_p.R1918Q|CACNA1C_uc001qkl.2_Missense_Mutation_p.R1958Q|CACNA1C_uc001qkj.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkk.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkn.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkm.2_Missense_Mutation_p.R1970Q|CACNA1C_uc001qko.2_Missense_Mutation_p.R1930Q|CACNA1C_uc001qkp.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkq.2_Missense_Mutation_p.R1938Q|CACNA1C_uc001qku.2_Missense_Mutation_p.R1945Q|CACNA1C_uc001qkr.2_Missense_Mutation_p.R1927Q|CACNA1C_uc001qks.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qkt.2_Missense_Mutation_p.R1929Q|CACNA1C_uc009zdv.1_Missense_Mutation_p.R1907Q|CACNA1C_uc001qkb.2_Missense_Mutation_p.R1910Q|CACNA1C_uc001qki.1_Missense_Mutation_p.R1717Q|CACNA1C_uc010sea.1_Missense_Mutation_p.R601Q|AK093746_uc001qkx.1_Intron|CACNA1C_uc001qky.1_Missense_Mutation_p.R228Q	NM_199460	NP_955630	Q13936	CAC1C_HUMAN	Homo sapiens calcium channel, voltage-dependent, L type, alpha 1C subunit (CACNA1C), transcript variant 1, mRNA.	1993					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	CAGAAGGACCGAGGGGGAGAC	0.582													A	2795380	G	A	2795380	3	1	282	1	0	0	0	0	1	0	0	0	2566	1058	37	1	6616	1	CACNA1C	12	2795380	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		2795380	131056515	23	19802											
RB1	5925	broad.mit.edu	37	chr13	48934208	48934208	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttcagttaatgctatgTgtccttgactattttattaa	10	20	5	6	0	2	1	2	1	0	0	3	1	3	1	1	0	1	2	1	0	5	8			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr13:48934208T>A	uc001vcb.3	+	6	829	c.663T>A	c.(661-663)tgT>tgA	p.C221*	RB1_uc010acs.1_Non-coding_Transcript|RB1_uc010act.1_5'UTR	NM_000321	NP_000312	P06400	RB_HUMAN	Homo sapiens retinoblastoma 1 (RB1), mRNA.	221					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TAATGCTATGTGTCCTTGACT	0.313		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			A	48934208	T	A	48934208	4	1	282	1	0	0	0	0	0	1	0	0	13186	1702	59	5	689	5	RB1	13	48934208	Nonsense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		48934208	66235670	24	19803											
C15orf42	90381	broad.mit.edu	37	chr15	90161424	90161424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattggtgttgttgaagagtCccctgaaaaaggagatggtg	11	12	14	4	0	0	4	0	2	0	2	1	5	1	4	2	3	0	2	2	3	4	4			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr15:90161424C>A	uc002boe.3	+	16	3002	c.3002C>A	c.(3001-3003)tCc>tAc	p.S1001Y	C15orf42_uc021sug.1_Missense_Mutation_p.S1000Y	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	1001					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			GTTGAAGAGTCCCCTGAAAAA	0.388													A	90161424	C	A	90161424	3	1	282	1	0	0	0	0	1	0	0	0	1809	855	30	4	3068	4	C15orf42	15	90161424	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		90161424	12369968	25	19804											
ACSM2B	348158	broad.mit.edu	37	chr16	20554273	20554273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctgctgatcacagccGtctcaaccacagcagggtgc	8	7	12	14	1	2	1	2	1	1	0	3	1	2	1	2	2	5	3	2	2	1	0			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr16:20554273G>A	uc002dhj.4	-	12	1682	c.1472C>T	c.(1471-1473)aCg>aTg	p.T491M	ACSM2B_uc002dhk.4_Missense_Mutation_p.T491M|ACSM2B_uc010bwf.1_Missense_Mutation_p.T491M	NM_182617	NP_872423	Q68CK6	ACS2B_HUMAN	Homo sapiens acyl-CoA synthetase medium-chain family member 2B (ACSM2B), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	491					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.E490A(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GATCACAGCCGTCTCAACCAC	0.557													A	20554273	G	A	20554273	3	1	282	1	0	0	0	0	1	0	0	0	184	1145	40	1	273	1	ACSM2B	16	20554273	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		20554273	69800480	26	19805											
ATP2A3	489	broad.mit.edu	37	chr17	3851127	3851127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacggccacacccaccgctTtgcccgatgtgatattggtg	7	9	10	15	3	0	1	0	1	0	0	0	2	0	1	5	2	1	1	5	2	1	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:3851127T>A	uc002fwy.2	-	7	826	c.653A>T	c.(652-654)aAa>aTa	p.K218I	ATP2A3_uc002fwz.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxa.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxb.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxc.2_Missense_Mutation_p.K218I|ATP2A3_uc002fxd.2_Missense_Mutation_p.K218I|ATP2A3_uc002fwx.2_Missense_Mutation_p.K218I	NM_174953	NP_777613	Q93084	AT2A3_HUMAN	Homo sapiens ATPase, Ca++ transporting, ubiquitous (ATP2A3), transcript variant 5, mRNA.	218					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		ACCCACCGCTTTGCCCGATGT	0.682													A	3851127	T	A	3851127	3	1	282	1	0	0	0	0	1	0	0	0	1143	1841	64	5	2613	5	ATP2A3	17	3851127	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		3851127	77344083	27	19806											
ANKFN1	162282	broad.mit.edu	37	chr17	54450196	54450196	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaacaggctttgagcAtgccagtgagtataagcaga	15	8	11	7	0	0	4	0	3	0	1	0	4	0	4	1	1	4	4	1	1	4	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:54450196A>T	uc002iun.1	+	5	835	c.800A>T	c.(799-801)cAt>cTt	p.H267L		NM_153228	NP_694960	Q8N957	ANKF1_HUMAN	Homo sapiens ankyrin-repeat and fibronectin type III domain containing 1 (ANKFN1), mRNA.	267										NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GGCTTTGAGCATGCCAGTGAG	0.433													T	54450196	A	T	54450196	3	4	282	1	0	0	0	0	1	0	0	0	625	217	8	5	822	5	ANKFN1	17	54450196	Missense_Mutation	SNP	A	TCGA-81-5911-01A-12D-1845-08	50599069	54450196	26745014	28	19807											
CYB561	1534	broad.mit.edu	37	chr17	61514742	61514742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatcaggcctatgaccatgCagagggggtgcgcgttgaac	10	7	15	9	2	1	4	1	2	0	2	1	4	1	4	2	3	3	2	2	3	2	2			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr17:61514742C>A	uc002jaq.3	-	1	328	c.305G>T	c.(304-306)tGc>tTc	p.C102F	CYB561_uc002jap.3_Missense_Mutation_p.C56F|CYB561_uc002jar.3_Missense_Mutation_p.C56F|CYB561_uc002jas.3_Missense_Mutation_p.C56F|CYB561_uc010ddt.3_Missense_Mutation_p.C56F|CYB561_uc002jat.3_Missense_Mutation_p.C56F|CYB561_uc010wpf.2_Missense_Mutation_p.C56F|CYB561_uc010wpg.2_Missense_Mutation_p.C27F	NM_001915	NP_001906	P49447	CY561_HUMAN	Homo sapiens cytochrome b-561 (CYB561), transcript variant 1, mRNA.	56	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		TATGACCATGCAGAGGGGGTG	0.647													A	61514742	C	A	61514742	3	1	282	1	0	0	0	0	1	0	0	0	4152	710	25	4	608	4	CYB561	17	61514742	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	7064546	61514742	19680468	29	19808											
FPR2	2358	broad.mit.edu	37	chr19	52272612	52272612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatccacaaaaagggcatgaTtaaatccagccgtcccttac	14	8	7	12	1	0	1	0	1	0	0	3	2	3	1	4	1	2	1	4	1	5	2			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:52272612T>C	uc002pxr.3	+	1	746	c.701T>C	c.(700-702)aTt>aCt	p.I234T	FPR2_uc002pxs.4_Missense_Mutation_p.I234T|FPR2_uc010epf.3_Missense_Mutation_p.I234T|FPR2_uc021uyp.1_Missense_Mutation_p.I234T	NM_001005738	NP_001453	P25090	FPR2_HUMAN	Homo sapiens formyl peptide receptor 2 (FPR2), transcript variant 2, mRNA.	234					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						AAGGGCATGATTAAATCCAGC	0.507													C	52272612	T	C	52272612	3	2	282	1	0	0	0	0	1	0	0	0	6090	1493	52	3	703	3	FPR2	19	52272612	Missense_Mutation	SNP	T	TCGA-81-5911-01A-12D-1845-08		52272612	6856371	30	19809											
LILRA4	23547	broad.mit.edu	37	chr19	54848923	54848923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattctctccgggggtcaCgacagggccctgcagggtca	7	7	14	13	2	3	1	2	0	1	1	5	2	4	1	2	4	1	1	2	4	0	1			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54848923C>T	uc002qfj.3	-	4	757	c.700G>A	c.(700-702)Gtg>Atg	p.V234M	LILRA4_uc002qfi.3_Missense_Mutation_p.V168M	NM_012276	NP_036408	P59901	LIRA4_HUMAN	Homo sapiens leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4 (LILRA4), mRNA.	234	Ig-like C2-type 3.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCGGGGGTCACGACAGGGCCC	0.647													T	54848923	C	T	54848923	3	4	282	1	0	0	0	0	1	0	0	0	8847	536	19	1	815	1	LILRA4	19	54848923	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	2576311	54848923	4280060	31	19810											
LAIR1	3903	broad.mit.edu	37	chr19	54872745	54872745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccgggccccggcacaCgaaagtcacatggctcccca	10	3	9	19	3	1	0	1	0	0	0	2	1	2	0	6	3	1	2	6	3	2	0			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr19:54872745C>T	uc002qfk.1	-	2	452	c.142G>A	c.(142-144)Gtg>Atg	p.V48M	LAIR1_uc002qfl.1_Missense_Mutation_p.V48M|LAIR1_uc002qfm.1_Missense_Mutation_p.V47M|LAIR1_uc002qfn.1_Missense_Mutation_p.V47M|LAIR1_uc010yex.2_Missense_Mutation_p.V41M|LAIR1_uc002qfo.3_Missense_Mutation_p.V30M	NM_002287	NP_002278	Q6GTX8	LAIR1_HUMAN	Homo sapiens leukocyte-associated immunoglobulin-like receptor 1 (LAIR1), transcript variant a, mRNA.	48	Ig-like C2-type.					integral to membrane|plasma membrane	protein binding|receptor activity	p.V48L(2)|p.V48M(2)		breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(4)|prostate(1)|stomach(3)	26	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0573)		CCCCGGCACACGAAAGTCACA	0.567													T	54872745	C	T	54872745	3	4	282	1	0	0	0	0	1	0	0	0	8661	536	19	1	753	1	LAIR1	19	54872745	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08	23822	54872745	4256238	32	19811											
SIGLEC1	6614	broad.mit.edu	37	chr20	3682241	3682241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgaaggatgcccacaagtcCcgcctgggtctccaggaagg	9	6	14	12	1	1	1	0	1	1	0	3	3	2	3	4	4	1	0	4	4	3	0			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr20:3682241C>T	uc002wja.3	-	5	1276	c.1276G>A	c.(1276-1278)Gga>Aga	p.G426R	SIGLEC1_uc002wiz.4_Missense_Mutation_p.G426R	NM_023068	NP_075556	Q9BZZ2	SN_HUMAN	Homo sapiens sialic acid binding Ig-like lectin 1, sialoadhesin (SIGLEC1), mRNA.	426	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CCCACAAGTCCCGCCTGGGTC	0.632													T	3682241	C	T	3682241	3	4	282	1	0	0	0	0	1	0	0	0	14399	632	22	2	3917	2	SIGLEC1	20	3682241	Missense_Mutation	SNP	C	TCGA-81-5911-01A-12D-1845-08		3682241	59343279	33	19812											
DNAJC28	54943	broad.mit.edu	37	chr21	34861310	34861310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaataatgtcggtgttgggGtgttttatatttgaattttt	9	21	10	1	1	0	1	0	1	0	0	1	1	0	1	0	3	0	2	0	3	6	9			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chr21:34861310G>A	uc021wim.1	-	0	391	c.391C>T	c.(391-393)Ccc>Tcc	p.P131S	DNAJC28_uc002yrv.3_Missense_Mutation_p.P131S|DNAJC28_uc002yrw.3_Missense_Mutation_p.P131S	NM_017833	NP_060303	Q9NX36	DJC28_HUMAN	Homo sapiens DnaJ (Hsp40) homolog, subfamily C, member 28 (DNAJC28), transcript variant 1, mRNA.	131							heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CGGTGTTGGGGTGTTTTATAT	0.393													A	34861310	G	A	34861310	3	1	282	1	0	0	0	0	1	0	0	0	4685	1261	44	2	779	2	DNAJC28	21	34861310	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		34861310	13268585	34	19813											
TEX13B	56156	broad.mit.edu	37	chrX	107224904	107224904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggggatcttacggcatGgaagagcttccatctcagca	9	10	12	10	2	2	1	1	0	2	1	5	3	3	3	1	4	3	3	1	4	2	3			TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:107224904G>A	uc004enn.1	-	1	547	c.454C>T	c.(454-456)Cat>Tat	p.H152Y		NM_031273	NP_112563	Q9BXU2	TX13B_HUMAN	Homo sapiens testis expressed 13B (TEX13B), mRNA.	152								p.H152N(2)		breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						CTTACGGCATGGAAGAGCTTC	0.597													A	107224904	G	A	107224904	3	1	282	1	0	0	0	0	1	0	0	0	15877	1348	47	2	492	2	TEX13B	23	107224904	Missense_Mutation	SNP	G	TCGA-81-5911-01A-12D-1845-08		107224904	48045656	35	19814											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-																															aagccgtgtacgttgaacccGctgctgctgctgctgctgct																										TCGA-81-5911-01A-12D-1845-08	TCGA-81-5911-10A-01D-1845-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a501e01b-249c-43cb-aee2-f355c3c697dd	c391bf4d-b3e8-4447-9654-50004779a2d6	g.chrX:150817142_150817144delGCT	uc004fev.4	+	8	1017_1019	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493	NP_775764	Q8IV76	PASD1_HUMAN	Homo sapiens PAS domain containing 1 (PASD1), mRNA.	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)|p.A235D(1)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													-	150817144	GCT	-	150817142	7	5	282	1	0	1	0	1	0	0	0	0	11547	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-81-5911-01A-12D-1845-08	43592238	150817142	4453418	36	19815											
KTI12	112970	broad.mit.edu	37	chr1	52498511	52498511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcaagggccgggtaaacCgcaagtgctctgtggtacca	9	8	14	10	2	2	0	1	0	1	0	2	0	2	0	3	4	3	4	3	4	5	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:52498511C>T	uc001ctj.1	-	0	962	c.923G>A	c.(922-924)cGg>cAg	p.R308Q	TXNDC12_uc001cti.3_Intron	NM_138417	NP_612426	Q96EK9	KTI12_HUMAN	Homo sapiens KTI12 homolog, chromatin associated (S. cerevisiae) (KTI12), mRNA.	308							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						CCGGGTAAACCGCAAGTGCTC	0.552													T	52498511	C	T	52498511	3	4	283	1	0	0	0	0	1	0	0	0	8643	652	23	1	145	1	KTI12	1	52498511	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08		52498511	196752110	1	19816											
CACHD1	57685	broad.mit.edu	37	chr1	65141094	65141094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgtagggggatttgaCgaaccttgtgcatggcagcc	7	12	14	8	1	1	1	0	1	1	0	1	3	1	2	2	3	3	4	2	3	2	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:65141094C>T	uc001dbo.1	+	19	2690	c.2585C>T	c.(2584-2586)aCg>aTg	p.T862M	CACHD1_uc001dbp.1_Missense_Mutation_p.T617M|CACHD1_uc001dbq.1_Missense_Mutation_p.T617M|CACHD1_uc010opa.1_Missense_Mutation_p.T106M	NM_020925	NP_065976	Q5VU97	CAHD1_HUMAN	Homo sapiens cache domain containing 1 (CACHD1), mRNA.	913					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GGGGATTTGACGAACCTTGTG	0.463											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65141094	C	T	65141094	3	4	283	1	0	0	0	0	1	0	0	0	2563	536	19	1	2663	1	CACHD1	1	65141094	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	12642583	65141094	184109527	2	19817											
RPF1	80135	broad.mit.edu	37	chr1	84961638	84961638	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaacacggctgggtcattCaattggacgtatgtttgcat	10	13	10	8	2	2	0	2	0	0	0	2	1	2	1	0	3	3	4	0	3	4	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:84961638C>G	uc001djv.4	+	6	818	c.773C>G	c.(772-774)tCa>tGa	p.S258*		NM_025065	NP_079341	Q9H9Y2	RPF1_HUMAN	Homo sapiens ribosome production factor 1 homolog (S. cerevisiae) (RPF1), mRNA.	258	Brix.				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						CTGGGTCATTCAATTGGACGT	0.373													G	84961638	C	G	84961638	4	3	283	1	0	0	0	0	0	1	0	0	13637	838	29	4	799	4	RPF1	1	84961638	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	19820544	84961638	164288983	3	19818											
ODF2L	57489	broad.mit.edu	37	chr1	86851250	86851250	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccaattcagtctttTcatttagaatgtcctgcttc	7	19	5	10	0	3	1	2	0	1	1	6	1	5	1	2	0	2	2	2	0	3	8			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:86851250T>A	uc001dll.2	-	2	499	c.137A>T	c.(136-138)gAa>gTa	p.E46V	ODF2L_uc001dlp.3_Missense_Mutation_p.E46V|ODF2L_uc010osg.2_Missense_Mutation_p.E46V|ODF2L_uc001dlm.2_Missense_Mutation_p.E46V|ODF2L_uc021opg.1_Intron|ODF2L_uc001dlq.2_Intron|ODF2L_uc009wcr.2_Intron	NM_001007022	NP_001007023	Q9ULJ1	ODF2L_HUMAN	Homo sapiens outer dense fiber of sperm tails 2-like (ODF2L), transcript variant 2, mRNA.	46						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTCAGTCTTTTCATTTAGAAT	0.343													A	86851250	T	A	86851250	3	1	283	1	0	0	0	0	1	0	0	0	10904	1783	62	5	2013	5	ODF2L	1	86851250	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	1889612	86851250	162399371	4	19819											
S100A7L2	645922	broad.mit.edu	37	chr1	153409549	153409549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatcactggcttcccccGgaacagggtgccactccatg	7	8	12	14	1	1	0	1	0	0	0	3	2	3	2	4	4	2	1	4	4	1	1	rs140750285		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:153409549G>A	uc010pdx.2	-	2	402	c.324C>T	c.(322-324)tcC>tcT	p.S108S		NM_001045479	NP_001038944			Homo sapiens S100 calcium binding protein A7-like 2 (S100A7L2), mRNA.											NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGCTTCCCCCGGAACAGGGTG	0.488													A	153409549	G	A	153409549	2	1	283	1	0	0	0	0	0	0	0	1	13876	1103	39	1		1	S100A7L2	1	153409549	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	66558299	153409549	95841072	5	19820											
ZP4	57829	broad.mit.edu	37	chr1	238048511	238048511	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagggttcacaaagctgAaggtgaagatgctgaagcgc	12	8	14	7	1	1	4	1	3	0	1	1	4	1	4	0	2	3	4	0	2	5	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:238048511A>C	uc001hym.3	-	8	1552	c.1265T>G	c.(1264-1266)tTc>tGc	p.F422C	LOC100130331_uc010pyc.2_Intron	NM_021186	NP_067009	Q12836	ZP4_HUMAN	Homo sapiens zona pellucida glycoprotein 4 (ZP4), mRNA.	422	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CACAAAGCTGAAGGTGAAGAT	0.537													C	238048511	A	C	238048511	3	2	283	1	0	0	0	0	1	0	0	0	18317	246	9	5	373	5	ZP4	1	238048511	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	84638962	238048511	11202110	6	19821											
OR2G6	391211	broad.mit.edu	37	chr1	248685273	248685273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggccatggggttgggctCgtctgagtgtattctcttgg	3	15	16	7	1	2	1	0	1	2	0	4	1	2	1	1	5	0	3	1	5	1	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr1:248685273C>T	uc001ien.1	+	0	326	c.326C>T	c.(325-327)tCg>tTg	p.S109L		NM_001013355	NP_001013373	Q5TZ20	OR2G6_HUMAN	Homo sapiens olfactory receptor, family 2, subfamily G, member 6 (OR2G6), mRNA.	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S109L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGGTTGGGCTCGTCTGAGTGT	0.547													T	248685273	C	T	248685273	3	4	283	1	0	0	0	0	1	0	0	0	11076	893	31	1	328	1	OR2G6	1	248685273	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	10636762	248685273	565348	7	19822											
MAP4K4	9448	broad.mit.edu	37	chr2	102440436	102440436	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaatatgctaaagaaatActctcatcacagaaacattg	19	10	5	7	0	2	2	2	0	1	2	3	3	2	2	0	0	3	1	0	0	8	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr2:102440436A>T	uc002tbc.3	+	3	605	c.227A>T	c.(226-228)tAc>tTc	p.Y76F	MAP4K4_uc002tbf.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbd.3_Missense_Mutation_p.Y76F|MAP4K4_uc010yvy.2_Missense_Mutation_p.Y76F|MAP4K4_uc002tbh.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbg.3_Missense_Mutation_p.Y76F|MAP4K4_uc002tbi.3_Missense_Mutation_p.Y76F|MAP4K4_uc010yvz.2_Missense_Mutation_p.Y56F|MAP4K4_uc010fiw.1_Intron|MAP4K4_uc002tbj.1_5'Flank	NM_145687	NP_001229488	O95819	M4K4_HUMAN	Homo sapiens mitogen-activated protein kinase kinase kinase kinase 4 (MAP4K4), transcript variant 3, mRNA.	76	Protein kinase.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTAAAGAAATACTCTCATCAC	0.368													T	102440436	A	T	102440436	3	4	283	1	0	0	0	0	1	0	0	0	9337	391	14	5	241	5	MAP4K4	2	102440436	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		102440436	140758937	8	19823											
ST6GAL2	84620	broad.mit.edu	37	chr2	107460197	107460197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgggcgcggggcagCgcctggcgtgcgtccaggcc	2	5	21	13	5	0	0	0	0	0	0	1	0	1	0	3	6	2	2	3	6	0	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr2:107460197C>T	uc002tdq.3	-	1	356	c.237G>A	c.(235-237)gcG>gcA	p.A79A	ST6GAL2_uc002tdr.3_Silent_p.A79A|ST6GAL2_uc002tds.3_Silent_p.A79A	NM_001142351	NP_115917	Q96JF0	SIAT2_HUMAN	Homo sapiens ST6 beta-galactosamide alpha-2,6-sialyltranferase 2 (ST6GAL2), transcript variant 2, mRNA.	79					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.A79A(2)|p.A79V(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGCGGGGCAGCGCCTGGCGTG	0.657													T	107460197	C	T	107460197	2	4	283	1	0	0	0	0	0	0	0	1	15318	755	27	1		1	ST6GAL2	2	107460197	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	5019761	107460197	135739176	9	19824											
GPR149	344758	broad.mit.edu	37	chr3	154139085	154139085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagagggcgtggtgctgaTttctacttttatagcattga	9	14	12	6	1	1	3	0	2	1	1	1	4	1	3	0	2	3	2	0	2	3	6			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr3:154139085T>C	uc003faa.3	-	2	1466	c.1366A>G	c.(1366-1368)Atc>Gtc	p.I456V		NM_001038705	NP_001033794	Q86SP6	GP149_HUMAN	Homo sapiens G protein-coupled receptor 149 (GPR149), mRNA.	456						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTGGTGCTGATTTCTACTTTT	0.393													C	154139085	T	C	154139085	3	2	283	1	0	0	0	0	1	0	0	0	6708	1493	52	3	837	3	GPR149	3	154139085	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		154139085	43883345	10	19825											
TNIK	23043	broad.mit.edu	37	chr3	170800078	170800078	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagtccctctagcacaTccatctgctgaaatcgcctc	9	11	5	16	1	3	1	1	1	2	0	7	1	5	1	3	0	2	2	3	0	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr3:170800078T>G	uc003fhh.2	-	26	3620	c.3275A>C	c.(3274-3276)gAt>gCt	p.D1092A	TNIK_uc003fhi.2_Missense_Mutation_p.D1037A|TNIK_uc003fhj.2_Missense_Mutation_p.D1063A|TNIK_uc003fhk.2_Missense_Mutation_p.D1084A|TNIK_uc003fhl.2_Missense_Mutation_p.D1008A|TNIK_uc003fhm.2_Missense_Mutation_p.D1029A|TNIK_uc003fhn.2_Missense_Mutation_p.D1055A|TNIK_uc003fho.2_Missense_Mutation_p.D1000A|TNIK_uc003fhg.2_Missense_Mutation_p.D270A|TNIK_uc003fhp.3_Missense_Mutation_p.D24A	NM_015028	NP_055843	Q9UKE5	TNIK_HUMAN	Homo sapiens TRAF2 and NCK interacting kinase (TNIK), transcript variant 1, mRNA.	1092	CNH.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CTCTAGCACATCCATCTGCTG	0.483													G	170800078	T	G	170800078	3	3	283	1	0	0	0	0	1	0	0	0	16413	1435	50	5	835	5	TNIK	3	170800078	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	16660993	170800078	27222352	11	19826											
FYB	2533	broad.mit.edu	37	chr5	39153687	39153687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagttgttgagtaagaCgtctggcctttgctagtacc	9	12	13	7	1	1	2	0	1	1	1	1	3	1	3	2	2	2	5	2	2	4	6			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:39153687C>T	uc003jls.3	-	1	1222	c.1155G>A	c.(1153-1155)acG>acA	p.T385T	FYB_uc003jlt.3_Silent_p.T385T|FYB_uc003jlu.3_Silent_p.T385T|FYB_uc011cpl.2_Silent_p.T395T	NM_199335	NP_955367	O15117	FYB_HUMAN	Homo sapiens FYN binding protein (FYB), transcript variant 2, mRNA.	385	Interaction with SKAP1.				cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTGAGTAAGACGTCTGGCCTT	0.468													T	39153687	C	T	39153687	2	4	283	1	0	0	0	0	0	0	0	1	6176	523	19	1		1	FYB	5	39153687	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		39153687	141761573	12	19827											
IQGAP2	10788	broad.mit.edu	37	chr5	75998408	75998408	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggaaaaggtgcaactcaAtattcaggtaagctgctgga	14	9	12	6	0	2	0	2	0	0	0	2	3	2	2	0	4	4	4	0	4	6	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:75998408A>G	uc003kek.3	+	34	4829	c.4607A>G	c.(4606-4608)aAt>aGt	p.N1536S	IQGAP2_uc011csv.2_Missense_Mutation_p.N1032S|IQGAP2_uc003kel.3_Missense_Mutation_p.N1032S	NM_006633	NP_006624	Q13576	IQGA2_HUMAN	Homo sapiens IQ motif containing GTPase activating protein 2 (IQGAP2), mRNA.	1536					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GTGCAACTCAATATTCAGGTA	0.353													G	75998408	A	G	75998408	3	3	283	1	0	0	0	0	1	0	0	0	7873	101	4	3	4745	3	IQGAP2	5	75998408	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	36844721	75998408	104916852	13	19828											
CEP120	153241	broad.mit.edu	37	chr5	122754205	122754205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttggacgtttggggaaatgCcgacctggagaaacagaata	13	9	13	6	2	0	2	0	0	0	2	0	6	0	4	2	4	2	1	2	4	4	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr5:122754205C>T	uc003ktk.3	-	2	170	c.54G>A	c.(52-54)cgG>cgA	p.R18R	CEP120_uc010jcz.2_5'UTR|CEP120_uc011cwq.2_5'UTR	NM_153223	NP_001159698	Q8N960	CE120_HUMAN	Homo sapiens centrosomal protein 120kDa (CEP120), transcript variant 1, mRNA.	18						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						TGGGGAAATGCCGACCTGGAG	0.383													T	122754205	C	T	122754205	2	4	283	1	0	0	0	0	0	0	0	1	3276	726	26	2		2	CEP120	5	122754205	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	46755797	122754205	58161055	14	19829											
DSP	1832	broad.mit.edu	37	chr6	7565623	7565623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagaggatggatcacctgcGacagctgcagaacatcattc	12	8	11	10	1	2	2	2	1	0	2	3	6	2	4	1	2	4	2	1	2	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:7565623G>A	uc003mxp.1	+	6	1088	c.809G>A	c.(808-810)cGa>cAa	p.R270Q	DSP_uc003mxq.1_Missense_Mutation_p.R270Q|DSP_uc021yle.1_Missense_Mutation_p.R270Q	NM_004415	NP_004406	P15924	DESP_HUMAN	Homo sapiens desmoplakin (DSP), transcript variant 1, mRNA.	270	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATCACCTGCGACAGCTGCAG	0.502													A	7565623	G	A	7565623	3	1	283	1	0	0	0	0	1	0	0	0	4820	1058	37	1	835	1	DSP	6	7565623	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		7565623	163549444	15	19830											
DNAH8	1769	broad.mit.edu	37	chr6	38957817	38957817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaagatgtttgaaccGtcattctgcttttatactgg	10	15	10	6	1	2	3	1	2	1	2	2	4	2	3	1	1	3	2	1	1	4	5	rs143472136	byFrequency	TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:38957817G>A	uc021yzh.1	+	87	13192	c.13083G>A	c.(13081-13083)ccG>ccA	p.P4361P	DNAH8_uc003ooe.2_Silent_p.P4144P	NM_001206927	NP_001193856			Homo sapiens dynein, axonemal, heavy chain 8 (DNAH8), mRNA.											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTTTGAACCGTCATTCTGCT	0.368													A	38957817	G	A	38957817	2	1	283	1	0	0	0	0	0	0	0	1	4646	1132	40	1		1	DNAH8	6	38957817	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	31392194	38957817	132157250	16	19831											
GSTA1	2938	broad.mit.edu	37	chr6	52658945	52658945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaaaggcagggaagtagCgattttttattttctctttg	9	18	9	5	1	2	0	1	0	1	0	3	2	2	1	0	2	1	2	0	2	4	8			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:52658945C>T	uc003paz.3	-	4	504	c.392G>A	c.(391-393)cGc>cAc	p.R131H	GSTA1_uc021zan.1_Missense_Mutation_p.R131H	NM_145740	NP_665683	P08263	GSTA1_HUMAN	Homo sapiens glutathione S-transferase alpha 1 (GSTA1), mRNA.	131	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	AGGGAAGTAGCGATTTTTTAT	0.438													T	52658945	C	T	52658945	3	4	283	1	0	0	0	0	1	0	0	0	6885	768	27	1	288	1	GSTA1	6	52658945	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	13701128	52658945	118456122	17	19832											
AKD1	221264	broad.mit.edu	37	chr6	109827537	109827537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgctatcttacctgctttTattctttccaggtatgtctg	6	19	7	9	0	3	0	0	0	3	0	4	0	4	0	2	1	3	3	2	1	4	7			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr6:109827537T>C	uc003ptn.2	-	34	4919	c.4842A>G	c.(4840-4842)atA>atG	p.I1614M	AKD1_uc011eas.1_Missense_Mutation_p.I13M	NM_001145128	NP_001138600	Q5TCS8	AKD1_HUMAN	Homo sapiens adenylate kinase domain containing 1 (AKD1), transcript variant 1, mRNA.	1614					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		ATP binding|nucleobase, nucleoside, nucleotide kinase activity|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(2)	20						TACCTGCTTTTATTCTTTCCA	0.323													C	109827537	T	C	109827537	3	2	283	1	0	0	0	0	1	0	0	0	460	1744	61	3	921	3	AKD1	6	109827537	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	57168592	109827537	61287530	18	19833											
MIOS	54468	broad.mit.edu	37	chr7	7612689	7612689	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctctttgttggcttccaCgagaccagaaacttctcctt	7	15	7	12	1	2	2	0	0	2	2	5	3	3	2	3	1	1	2	3	1	1	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:7612689C>T	uc003srf.3	+	3	891	c.583C>T	c.(583-585)Cga>Tga	p.R195*	MIOS_uc010ktp.1_Nonsense_Mutation_p.R195*	NM_019005	NP_061878	Q9NXC5	MIO_HUMAN	Homo sapiens missing oocyte, meiosis regulator, homolog (Drosophila) (MIOS), mRNA.	195										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTGGCTTCCACGAGACCAGAA	0.383													T	7612689	C	T	7612689	4	4	283	1	0	0	0	0	0	1	0	0	9664	528	19	1	585	1	MIOS	7	7612689	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08		7612689	151525974	19	19834											
ABCA13	154664	broad.mit.edu	37	chr7	48450229	48450229	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggtcctcccttctgcctGaaggaggcatatggccaggg	6	9	14	12	1	1	1	0	1	1	0	3	2	3	2	4	5	2	1	4	5	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:48450229G>T	uc003toq.2	+	39	12207	c.12183G>T	c.(12181-12183)ctG>ctT	p.L4061L	ABCA13_uc010kys.1_Silent_p.L1135L|ABCA13_uc010kyt.1_Non-coding_Transcript	NM_152701	NP_689914	Q86UQ4	ABCAD_HUMAN	Homo sapiens ATP-binding cassette, sub-family A (ABC1), member 13 (ABCA13), mRNA.	4061	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity	p.T4060S(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCTTCTGCCTGAAGGAGGCAT	0.582													T	48450229	G	T	48450229	2	4	283	1	0	0	0	0	0	0	0	1	31	1277	45	4		4	ABCA13	7	48450229	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	40837540	48450229	110688434	20	19835											
POM121L12	285877	broad.mit.edu	37	chr7	53104048	53104048	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggagcggttgcttcCttcgtgcccaggccagggcc	8	8	13	12	2	0	0	0	0	0	0	2	1	1	1	4	4	3	2	4	4	2	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:53104048C>A	uc003tpz.3	+	0	700	c.684C>A	c.(682-684)tcC>tcA	p.S228S		NM_182595	NP_872401	Q8N7R1	P1L12_HUMAN	Homo sapiens POM121 membrane glycoprotein-like 12 (POM121L12), mRNA.	228								p.A227S(1)		endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CGGTTGCTTCCTTCGTGCCCA	0.637													A	53104048	C	A	53104048	2	1	283	1	0	0	0	0	0	0	0	1	12318	668	24	4		4	POM121L12	7	53104048	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	4653819	53104048	106034615	21	19836											
NSUN5	55695	broad.mit.edu	37	chr7	72717906	72717906	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggagcacgtggagtagacGagccgctgcagggaagggaa	12	3	19	7	3	0	1	0	0	0	1	0	6	0	5	1	4	3	4	1	4	3	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:72717906G>A	uc003txw.3	-	7	1139	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FKBP6_uc003twz.2_Intron|NSUN5_uc011kev.2_Silent_p.L354L|NSUN5_uc003txv.3_Silent_p.L354L|NSUN5_uc003txx.3_Silent_p.L316L	NM_018044	NP_060514	Q96P11	NSUN5_HUMAN	Homo sapiens NOP2/Sun domain family, member 5 (NSUN5), transcript variant 2, mRNA.	354							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TGGAGTAGACGAGCCGCTGCA	0.677													A	72717906	G	A	72717906	2	1	283	1	0	0	0	0	0	0	0	1	10757	1045	37	1		1	NSUN5	7	72717906	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	19613858	72717906	86420757	22	19837											
EPHB6	2051	broad.mit.edu	37	chr7	142566033	142566033	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatcgacccctccacctaCgaggacccctgtcaggccat	9	7	7	18	2	1	0	1	0	0	0	3	3	2	1	7	2	2	0	7	2	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr7:142566033C>T	uc011kst.2	+	13	2740	c.1953C>T	c.(1951-1953)taC>taT	p.Y651Y	EPHB6_uc011ksu.2_Silent_p.Y651Y|EPHB6_uc003wbs.3_Silent_p.Y359Y|EPHB6_uc003wbt.3_Silent_p.Y125Y|EPHB6_uc003wbu.3_Silent_p.Y359Y|EPHB6_uc003wbv.3_Silent_p.Y35Y	NM_004445	NP_004436	O15197	EPHB6_HUMAN	Homo sapiens EPH receptor B6 (EPHB6), mRNA.	651						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTCCACCTACGAGGACCCCT	0.577													T	142566033	C	T	142566033	2	4	283	1	0	0	0	0	0	0	0	1	5219	547	19	1		1	EPHB6	7	142566033	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	69848127	142566033	16572630	23	19838											
FAM110B	90362	broad.mit.edu	37	chr8	59059474	59059474	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctgcctcccaagcccAaaatcgcagccatcgcctcc	8	6	5	22	2	0	0	0	0	0	0	5	0	3	0	8	0	3	1	8	0	3	0	rs139483735		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr8:59059474A>C	uc022auu.1	+	0	685	c.685A>C	c.(685-687)Aaa>Caa	p.K229Q	FAM110B_uc003xtj.1_Missense_Mutation_p.K229Q	NM_147189	NP_671722	Q8TC76	F110B_HUMAN	Homo sapiens family with sequence similarity 110, member B (FAM110B), mRNA.	229						microtubule organizing center|mitochondrion|nucleus				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCCCAAGCCCAAAATCGCAGC	0.632													C	59059474	A	C	59059474	3	2	283	1	0	0	0	0	1	0	0	0	5442	131	5	5	687	5	FAM110B	8	59059474	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		59059474	87304548	24	19839											
MYBL1	4603	broad.mit.edu	37	chr8	67507922	67507922	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgattttattccatcttGtaaatagccctcctgttcca	8	18	4	11	0	2	1	0	1	2	0	5	1	5	1	4	0	1	2	4	0	4	8			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr8:67507922G>A	uc003xwj.3	-	5	990	c.583C>T	c.(583-585)Caa>Taa	p.Q195*	MYBL1_uc003xwl.3_Nonsense_Mutation_p.Q195*|MYBL1_uc003xwk.3_Nonsense_Mutation_p.Q195*	NM_001080416	NP_001073885	P10243	MYBA_HUMAN	Homo sapiens v-myb myeloblastosis viral oncogene homolog (avian)-like 1 (MYBL1), transcript variant 1, mRNA.	195					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			ATTCCATCTTGTAAATAGCCC	0.343													A	67507922	G	A	67507922	4	1	283	1	0	0	0	0	0	1	0	0	10085	1386	48	2	1719	2	MYBL1	8	67507922	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	8448448	67507922	78856100	25	19840											
NOL8	55035	broad.mit.edu	37	chr9	95077750	95077750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaacattttttttcatcGcaataatttcatctgtatct	11	19	3	8	1	4	0	2	0	2	0	5	0	4	0	0	0	2	3	0	0	5	8			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:95077750G>A	uc022bjx.1	-	6	1494	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V	NOL8_uc010mqw.3_Non-coding_Transcript|NOL8_uc022bjw.1_Missense_Mutation_p.A318V	NM_017948	NP_060418	Q76FK4	NOL8_HUMAN	Homo sapiens nucleolar protein 8 (NOL8), transcript variant 1, mRNA.	386					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						TTTTTTCATCGCAATAATTTC	0.323													A	95077750	G	A	95077750	3	1	283	1	0	0	0	0	1	0	0	0	10603	1087	38	1	2390	1	NOL8	9	95077750	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		95077750	46135681	26	19841											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112687347	112687347	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttcctacagggtttcTccagtacggatggaggtaag	8	14	12	7	1	1	0	0	0	1	0	3	2	2	2	2	4	2	4	2	4	3	7			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:112687347T>C	uc004bei.2	+	4	571	c.379T>C	c.(379-381)Tcc>Ccc	p.S127P	PALM2-AKAP2_uc004beg.3_Missense_Mutation_p.S129P|PALM2-AKAP2_uc004beh.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bej.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bek.4_Missense_Mutation_p.S127P|PALM2-AKAP2_uc004bel.1_5'UTR	NM_001136562	NP_001130034	Q9Y2D5	AKAP2_HUMAN	Homo sapiens A kinase (PRKA) anchor protein 2 (AKAP2), transcript variant 2, mRNA.	0							enzyme binding	p.S127Y(1)		breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ACAGGGTTTCTCCAGTACGGA	0.463													C	112687347	T	C	112687347	3	2	283	1	0	0	0	0	1	0	0	0	11486	1551	54	3	397	3	PALM2-AKAP2	9	112687347	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08	17609597	112687347	28526084	27	19842											
CEL	1056	broad.mit.edu	37	chr9	135945919	135945919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaccccaaatgggtgggggCcgaccatgcagatgacattc	10	7	12	12	1	0	2	0	1	0	1	1	3	0	2	4	3	2	1	4	3	2	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr9:135945919C>T	uc010naa.1	+	9	1383	c.1367C>T	c.(1366-1368)gCc>gTc	p.A456V		NM_001807	NP_001798	P19835	CEL_HUMAN	Homo sapiens carboxyl ester lipase (bile salt-stimulated lipase) (CEL), mRNA.	453					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		TGGGTGGGGGCCGACCATGCA	0.607													T	135945919	C	T	135945919	3	4	283	1	0	0	0	0	1	0	0	0	3239	739	26	2	1405	2	CEL	9	135945919	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	23258572	135945919	5267512	28	19843											
ZNF37A	7587	broad.mit.edu	37	chr10	38407548	38407548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcaccagagaactcataTaagacagaaaccctatggat	16	9	7	9	0	2	3	2	0	0	3	2	5	2	4	2	1	2	1	2	1	5	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr10:38407548T>C	uc001izk.3	+	7	2299	c.1469T>C	c.(1468-1470)aTa>aCa	p.I490T	ZNF37A_uc001izl.3_Missense_Mutation_p.I490T|ZNF37A_uc001izm.3_Missense_Mutation_p.I490T	NM_001007094	NP_003412	P17032	ZN37A_HUMAN	Homo sapiens zinc finger protein 37A (ZNF37A), transcript variant 1, mRNA.	490						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						AGAACTCATATAAGACAGAAA	0.413													C	38407548	T	C	38407548	3	2	283	1	0	0	0	0	1	0	0	0	17973	1406	49	3	1483	3	ZNF37A	10	38407548	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		38407548	97127199	29	19844											
PGR	5241	broad.mit.edu	37	chr11	100999671	100999671	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccgaaacttcaggcaagGtgtccgaggtctggctcccc	7	8	13	13	2	2	0	1	0	1	0	4	2	4	0	4	5	1	2	4	5	2	1	rs141862537		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr11:100999671G>T	uc001pgh.2	-	0	874	c.131C>A	c.(130-132)aCc>aAc	p.T44N	PGR_uc001pgi.2_Missense_Mutation_p.T44N|PGR_uc009yww.1_Non-coding_Transcript|PGR_uc001pgj.2_Non-coding_Transcript|PGR_uc009ywx.1_Non-coding_Transcript|FJ515873_uc010rum.2_5'Flank	NM_000926	NP_000917	P06401	PRGR_HUMAN	Homo sapiens progesterone receptor (PGR), transcript variant 2, mRNA.	44	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TTCAGGCAAGGTGTCCGAGGT	0.692													T	100999671	G	T	100999671	3	4	283	1	0	0	0	0	1	0	0	0	11882	1261	44	4	2702	4	PGR	11	100999671	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		100999671	34006845	30	19845											
COL2A1	1280	broad.mit.edu	37	chr12	48371798	48371798	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcactgctcacctctcGtccaggttcacctgcaggac	6	10	9	16	1	4	0	3	0	2	0	7	1	5	1	3	3	2	3	3	3	0	1	rs145684327		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:48371798G>A	uc001rqu.3	-	43	3287	c.3106C>T	c.(3106-3108)Cga>Tga	p.R1036*	COL2A1_uc001rqt.3_5'Flank|COL2A1_uc009zkw.3_Non-coding_Transcript|COL2A1_uc001rqv.3_Nonsense_Mutation_p.R967*	NM_001844	NP_001835	P02458	CO2A1_HUMAN	Homo sapiens collagen, type II, alpha 1 (COL2A1), transcript variant 1, mRNA.	1036	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTCACCTCTCGTCCAGGTTCA	0.662													A	48371798	G	A	48371798	4	1	283	1	0	0	0	0	0	1	0	0	3718	1153	40	1	1401	1	COL2A1	12	48371798	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		48371798	85480097	31	19846											
GLT8D2	83468	broad.mit.edu	37	chr12	104390580	104390580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatctgagaaagccgccGcgtggcccagggccaaggtg	9	5	15	12	3	2	1	1	1	1	1	2	2	2	1	4	3	1	0	4	3	2	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:104390580G>A	uc001tkh.1	-	7	1090	c.533C>T	c.(532-534)gCg>gTg	p.A178V	GLT8D2_uc001tki.1_Missense_Mutation_p.A178V	NM_031302	NP_112592	Q9H1C3	GL8D2_HUMAN	Homo sapiens glycosyltransferase 8 domain containing 2 (GLT8D2), mRNA.	178						integral to membrane	transferase activity, transferring glycosyl groups			kidney(3)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						GAAAGCCGCCGCGTGGCCCAG	0.483													A	104390580	G	A	104390580	3	1	283	1	0	0	0	0	1	0	0	0	6526	1087	38	1	532	1	GLT8D2	12	104390580	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	56018782	104390580	29461315	32	19847											
CUX2	23316	broad.mit.edu	37	chr12	111772341	111772341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgagcctgtccctggagaGcagcaaggagaaccagcagc	11	5	14	11	0	0	3	0	1	0	2	1	5	1	3	3	2	6	4	3	2	2	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr12:111772341G>A	uc001tsa.2	+	18	3177	c.3023G>A	c.(3022-3024)aGc>aAc	p.S1008N		NM_015267	NP_056082	O14529	CUX2_HUMAN	Homo sapiens cut-like homeobox 2 (CUX2), mRNA.	1008						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.E1007D(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TCCCTGGAGAGCAGCAAGGAG	0.647													A	111772341	G	A	111772341	3	1	283	1	0	0	0	0	1	0	0	0	4098	971	34	2	3097	2	CUX2	12	111772341	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	7381761	111772341	22079554	33	19848											
ABCC4	10257	broad.mit.edu	37	chr13	95705392	95705392	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcatccgtgtgctcattaAagggatccaggtttttcctc	7	14	8	12	1	2	0	2	0	0	0	6	1	5	1	4	2	1	2	4	2	2	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr13:95705392A>C	uc001vmd.4	-	26	3532	c.3413T>G	c.(3412-3414)tTt>tGt	p.F1138C	ABCC4_uc010afj.3_Missense_Mutation_p.F22C|ABCC4_uc010afk.3_Missense_Mutation_p.F1091C	NM_005845	NP_005836	O15439	MRP4_HUMAN	Homo sapiens ATP-binding cassette, sub-family C (CFTR/MRP), member 4 (ABCC4), transcript variant 1, mRNA.	1138	ABC transporter 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GTGCTCATTAAAGGGATCCAG	0.373													C	95705392	A	C	95705392	3	2	283	1	0	0	0	0	1	0	0	0	55	14	1	5	584	5	ABCC4	13	95705392	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08		95705392	19464486	34	19849											
TEP1	7011	broad.mit.edu	37	chr14	20846241	20846241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcaggaaaagcgcagcaGcaacaaagccatggtgggca	15	3	13	10	1	0	0	0	0	0	0	0	1	0	1	1	3	6	5	1	3	4	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr14:20846241G>A	uc001vxe.3	-	38	5703	c.5663C>T	c.(5662-5664)gCt>gTt	p.A1888V	TEP1_uc010ahk.3_Missense_Mutation_p.A1231V|TEP1_uc010tlf.1_Non-coding_Transcript|TEP1_uc010tlg.1_Missense_Mutation_p.A1780V|TEP1_uc010tlh.1_Missense_Mutation_p.A226V	NM_007110	NP_009041	Q99973	TEP1_HUMAN	Homo sapiens telomerase-associated protein 1 (TEP1), mRNA.	1888					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AAGCGCAGCAGCAACAAAGCC	0.632													A	20846241	G	A	20846241	3	1	283	1	0	0	0	0	1	0	0	0	15859	971	34	2	2288	2	TEP1	14	20846241	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08		20846241	86503299	35	19850											
MGAT2	4247	broad.mit.edu	37	chr14	50089072	50089072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttgtcttccaaaattctgGaaagtgctggttcctcaaat	10	15	7	9	0	4	0	1	0	3	0	6	1	6	1	2	2	1	2	2	2	4	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr14:50089072G>A	uc001wwr.3	+	0	1584	c.1086G>A	c.(1084-1086)tgG>tgA	p.W362*	NEMF_uc010anj.1_Intron|RPL36AL_uc001wwq.1_5'Flank	NM_002408	NP_002399	Q10469	MGAT2_HUMAN	Homo sapiens mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase (MGAT2), mRNA.	362					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					CAAAATTCTGGAAAGTGCTGG	0.423													A	50089072	G	A	50089072	4	1	283	1	0	0	0	0	0	1	0	0	9618	1183	41	2	1088	2	MGAT2	14	50089072	Nonsense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	29242831	50089072	57260468	36	19851											
UBR1	197131	broad.mit.edu	37	chr15	43269028	43269028	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagatcaacagggtcaTcccaatacaaggatgggaat	14	7	11	9	0	2	1	2	0	0	1	3	3	3	3	1	3	3	2	1	3	5	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:43269028T>A	uc001zqq.3	-	38	4322	c.4256A>T	c.(4255-4257)gAt>gTt	p.D1419V		NM_174916	NP_777576	Q8IWV7	UBR1_HUMAN	Homo sapiens ubiquitin protein ligase E3 component n-recognin 1 (UBR1), mRNA.	1419					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AACAGGGTCATCCCAATACAA	0.388													A	43269028	T	A	43269028	3	1	283	1	0	0	0	0	1	0	0	0	17003	1435	50	5	1029	5	UBR1	15	43269028	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		43269028	59262364	37	19852											
EDC3	80153	broad.mit.edu	37	chr15	74925078	74925078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatacggcctgcgtgctcccCcagtggcagaggcaggccca	7	5	14	15	2	0	1	0	0	0	1	1	2	1	1	4	4	3	3	4	4	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:74925078C>A	uc002ayn.3	-	9	1890	c.1402G>T	c.(1402-1404)Ggg>Tgg	p.G468W	EDC3_uc002ayo.3_Missense_Mutation_p.G468W|EDC3_uc002aym.3_Missense_Mutation_p.G468W	NM_001142443	NP_079359	Q96F86	EDC3_HUMAN	Homo sapiens enhancer of mRNA decapping 3 homolog (S. cerevisiae) (EDC3), transcript variant 1, mRNA.	468	YjeF N-terminal.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						GCGTGCTCCCCCAGTGGCAGA	0.577											OREG0023286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74925078	C	A	74925078	3	1	283	1	0	0	0	0	1	0	0	0	4946	623	22	4	128	4	EDC3	15	74925078	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	31656050	74925078	27606314	38	19853											
CSPG4	1464	broad.mit.edu	37	chr15	75980829	75980829	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacgtgctgtggccccAtaggtcacccggccagcctg	6	6	14	15	2	1	0	1	0	0	0	1	1	1	0	5	4	2	2	5	4	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:75980829A>C	uc002baw.3	-	2	2670	c.2577T>G	c.(2575-2577)taT>taG	p.Y859*		NM_001897	NP_001888	Q6UVK1	CSPG4_HUMAN	Homo sapiens chondroitin sulfate proteoglycan 4 (CSPG4), mRNA.	859	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).|Interaction with COL6A2 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						CTGTGGCCCCATAGGTCACCC	0.577													C	75980829	A	C	75980829	4	2	283	1	0	0	0	0	0	1	0	0	3993	224	8	5	4423	5	CSPG4	15	75980829	Nonsense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	1055751	75980829	26550563	39	19854											
C15orf42	90381	broad.mit.edu	37	chr15	90142688	90142688	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaatgttcctaaaatcaaaAggcaccaaggaattagaagt	20	8	7	6	0	1	1	1	0	0	1	2	2	2	2	2	2	0	2	2	2	10	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr15:90142688A>G	uc002boe.3	+	7	2034	c.2034A>G	c.(2032-2034)aaA>aaG	p.K678K	C15orf42_uc021sug.1_Silent_p.K677K	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	Homo sapiens chromosome 15 open reading frame 42 (C15orf42), mRNA.	678					cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding			NS(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(21)|ovary(6)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	59	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TAAAATCAAAAGGCACCAAGG	0.408													G	90142688	A	G	90142688	2	3	283	1	0	0	0	0	0	0	0	1	1809	69	3	3		3	C15orf42	15	90142688	Silent	SNP	A	TCGA-87-5896-01A-01D-1696-08	14161859	90142688	12388704	40	19855											
SPG7	6687	broad.mit.edu	37	chr16	89598461	89598461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccggcccagagttcgtGgaggtcattggaggtaggtg	7	9	18	7	2	1	1	1	0	0	1	2	3	1	3	2	7	0	2	2	7	1	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr16:89598461G>A	uc002fnj.3	+	7	1158	c.1137G>A	c.(1135-1137)gtG>gtA	p.V379V	SPG7_uc002fni.3_Silent_p.V379V	NM_003119	NP_003110	Q9UQ90	SPG7_HUMAN	Homo sapiens spastic paraplegia 7 (pure and complicated autosomal recessive) (SPG7), nuclear gene encoding mitochondrial protein, transcript variant 1, mRNA.	379					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGAGTTCGTGGAGGTCATTG	0.647													A	89598461	G	A	89598461	2	1	283	1	0	0	0	0	0	0	0	1	15140	1335	47	2		2	SPG7	16	89598461	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08		89598461	756292	41	19856											
CCL2	6347	broad.mit.edu	37	chr17	32583358	32583358	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccaaagaagctgtgaTgtgagttcagcacaccaacc	12	8	10	11	0	1	3	1	2	0	1	2	3	2	3	3	0	3	3	3	0	3	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:32583358T>A	uc002hhy.3	+	2	267	c.194_splice	c.e2+1	p.I65_splice		NM_002982	NP_002973	P13500	CCL2_HUMAN	Homo sapiens chemokine (C-C motif) ligand 2 (CCL2), mRNA.	65					angiogenesis|anti-apoptosis|apoptotic cell clearance|astrocyte cell migration|cell adhesion|cellular response to interferon-gamma|cellular response to interleukin-1|cellular response to lipopolysaccharide|cellular response to tumor necrosis factor|G-protein signaling, coupled to cyclic nucleotide second messenger|helper T cell extravasation|humoral immune response|inflammatory response|JAK-STAT cascade|macrophage chemotaxis|monocyte chemotaxis|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of T cell activation|viral genome replication	extracellular space	CCR2 chemokine receptor binding|chemokine activity|protein kinase activity|signal transducer activity			kidney(1)|lung(3)|pancreas(1)|upper_aerodigestive_tract(1)	6	Breast(3;0.00224)	Ovarian(249;0.0694)|Breast(31;0.151)|Lung NSC(157;0.153)		UCEC - Uterine corpus endometrioid carcinoma (308;0.000241)|BRCA - Breast invasive adenocarcinoma(366;0.0103)	Atorvastatin(DB01076)|Danazol(DB01406)|Mimosine(DB01055)|Simvastatin(DB00641)	GAAGCTGTGATGTGAGTTCAG	0.478													A	32583358	T	A	32583358	3	1	283	1	0	0	0	0	1	0	0	0	2919	1478	51	5	200	5	CCL2	17	32583358	Missense_Mutation	SNP	T	TCGA-87-5896-01A-01D-1696-08		32583358	48611852	42	19857											
TNS4	84951	broad.mit.edu	37	chr17	38641225	38641225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttagatgtgtccatcacGaacttcatggtgggctgcat	9	14	10	8	1	2	1	2	0	0	1	3	2	3	1	1	2	2	2	1	2	3	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:38641225G>A	uc010cxb.3	-	4	1487	c.1323C>T	c.(1321-1323)ttC>ttT	p.F441F		NM_032865	NP_116254	Q8IZW8	TENS4_HUMAN	Homo sapiens tensin 4 (TNS4), mRNA.	441					apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TGTCCATCACGAACTTCATGG	0.547													A	38641225	G	A	38641225	2	1	283	1	0	0	0	0	0	0	0	1	16445	1049	37	1		1	TNS4	17	38641225	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	6057867	38641225	42553985	43	19858											
KRT39	390792	broad.mit.edu	37	chr17	39116597	39116597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccagccgggacttgaCgtccagcaggatctcgtatt	9	10	10	12	3	1	1	0	1	1	0	4	3	3	3	3	2	2	2	3	2	1	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:39116597C>T	uc002hvo.1	-	5	1189	c.1153G>A	c.(1153-1155)Gtc>Atc	p.V385I	KRT39_uc010wfm.1_Missense_Mutation_p.V118I	NM_213656	NP_998821	Q6A163	K1C39_HUMAN	Homo sapiens keratin 39 (KRT39), mRNA.	385	Coil 2.|Rod.					intermediate filament	structural molecule activity	p.V385F(2)		NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CGGGACTTGACGTCCAGCAGG	0.493													T	39116597	C	T	39116597	3	4	283	1	0	0	0	0	1	0	0	0	8534	536	19	1	330	1	KRT39	17	39116597	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	475372	39116597	42078613	44	19859											
SGCA	6442	broad.mit.edu	37	chr17	48246591	48246591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggcaccccacttccgCgttgactggtgcaatgtgac	7	10	10	14	2	0	2	0	2	0	0	1	2	1	2	4	2	1	3	4	2	1	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:48246591C>T	uc002iqi.3	+	5	759	c.723C>T	c.(721-723)cgC>cgT	p.R241R	SGCA_uc010wmh.1_Silent_p.R139R|SGCA_uc002iqj.3_Intron|SGCA_uc010wmi.2_Non-coding_Transcript|BC126901_uc010dbn.1_5'Flank	NM_000023	NP_000014	Q16586	SGCA_HUMAN	Homo sapiens sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) (SGCA), transcript variant 1, mRNA.	241					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						CCCACTTCCGCGTTGACTGGT	0.662											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48246591	C	T	48246591	2	4	283	1	0	0	0	0	0	0	0	1	14292	755	27	1		1	SGCA	17	48246591	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	9129994	48246591	32948619	45	19860											
EPX	8288	broad.mit.edu	37	chr17	56277732	56277732	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagctctcaacatgcaaCgaagccgggaccacggcctt	10	6	11	14	3	1	0	1	0	1	0	2	2	1	1	3	3	5	3	3	3	3	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:56277732C>T	uc002ivq.3	+	9	1803	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*		NM_000502	NP_000493	P11678	PERE_HUMAN	Homo sapiens eosinophil peroxidase (EPX), mRNA.	562					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CAACATGCAACGAAGCCGGGA	0.617											OREG0024608	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56277732	C	T	56277732	4	4	283	1	0	0	0	0	0	1	0	0	5241	528	19	1	1722	1	EPX	17	56277732	Nonsense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	8031141	56277732	24917478	46	19861											
ENPP7	339221	broad.mit.edu	37	chr17	77711814	77711814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcgtgatgggactgctggGgaccgtgattcttctgtctg	4	13	14	10	2	3	2	0	2	3	0	4	4	3	4	2	3	1	1	2	3	0	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr17:77711814G>A	uc002jxa.3	+	4	1366	c.1346G>A	c.(1345-1347)gGg>gAg	p.G449E		NM_178543	NP_848638	Q6UWV6	ENPP7_HUMAN	Homo sapiens ectonucleotide pyrophosphatase/phosphodiesterase 7 (ENPP7), mRNA.	449					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGACTGCTGGGGACCGTGATT	0.632													A	77711814	G	A	77711814	3	1	283	1	0	0	0	0	1	0	0	0	5176	1232	43	2	1364	2	ENPP7	17	77711814	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	21434082	77711814	3483396	47	19862											
LAMA1	284217	broad.mit.edu	37	chr18	6977852	6977852	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggcttgaatttccacGtctttgacttttcttccagc	6	17	8	10	1	2	2	0	2	2	0	4	2	4	2	2	2	1	2	2	2	1	7			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:6977852G>A	uc002knm.3	-	43	6313	c.6219C>T	c.(6217-6219)gaC>gaT	p.D2073D	LAMA1_uc010wzj.2_Silent_p.D1549D	NM_005559	NP_005550	P25391	LAMA1_HUMAN	Homo sapiens laminin, alpha 1 (LAMA1), mRNA.	2073	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAATTTCCACGTCTTTGACTT	0.398													A	6977852	G	A	6977852	2	1	283	1	0	0	0	0	0	0	0	1	8664	1136	40	1		1	LAMA1	18	6977852	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08		6977852	71099396	48	19863											
POTEC	388468	broad.mit.edu	37	chr18	14542921	14542921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccacgttgctcgtgccGctccccctgcagcaggggaa	5	7	13	16	3	0	0	0	0	0	0	2	1	1	1	4	2	5	5	4	2	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:14542921G>A	uc010dln.3	-	0	679	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_uc010xaj.2_Non-coding_Transcript	NM_001137671	NP_001131143	B2RU33	POTEC_HUMAN	Homo sapiens POTE ankyrin domain family, member C (POTEC), mRNA.	75								p.S75S(2)|p.S75R(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567													A	14542921	G	A	14542921	2	1	283	1	0	0	0	0	0	0	0	1	12339	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	7565069	14542921	63534327	49	19864											
SERPINB11	89778	broad.mit.edu	37	chr18	61387390	61387390	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccttttcagctaagtgagGtaagtattttattttcagac	10	17	8	6	0	2	2	2	1	0	1	3	2	3	2	1	1	1	3	1	1	4	9			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr18:61387390G>A	uc002ljk.4	+	7	786	c.615_splice	c.e7+1	p.E205_splice	SERPINB11_uc010xes.2_Splice_Site_p.E31_splice|SERPINB11_uc010dqd.3_Splice_Site_p.E92_splice|SERPINB11_uc002ljj.4_Splice_Site_p.E92_splice|SERPINB11_uc010dqe.3_Intron|SERPINB11_uc010dqf.3_Intron	NM_080475	NP_536723	Q96P15	SPB11_HUMAN	Homo sapiens serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene) (SERPINB11), mRNA.	206					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				GCTAAGTGAGGTAAGTATTTT	0.313													A	61387390	G	A	61387390	5	1	283	1	0	0	0	0	0	0	1	0	14191	1275	44	2	637	2	SERPINB11	18	61387390	Splice_Site	SNP	G	TCGA-87-5896-01A-01D-1696-08	46844469	61387390	16689858	50	19865											
PTPRS	5802	broad.mit.edu	37	chr19	5273496	5273496	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgtgatctccccaacCgagttctgggccacacactc	8	9	9	15	1	2	1	0	1	2	0	4	3	2	2	4	2	1	1	4	2	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:5273496C>T	uc002mbv.3	-	3	570	c.336G>A	c.(334-336)tcG>tcA	p.S112S	PTPRS_uc002mbu.1_Silent_p.S112S|PTPRS_uc010xin.2_Silent_p.S112S|PTPRS_uc002mbw.3_Silent_p.S112S|PTPRS_uc002mbx.3_Silent_p.S112S|PTPRS_uc002mby.3_Silent_p.S112S|PTPRS_uc002mbz.1_Silent_p.S112S	NM_002850	NP_002841	Q13332	PTPRS_HUMAN	Homo sapiens protein tyrosine phosphatase, receptor type, S (PTPRS), transcript variant 1, mRNA.	112	Ig-like C2-type 1.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TCTCCCCAACCGAGTTCTGGG	0.587													T	5273496	C	T	5273496	2	4	283	1	0	0	0	0	0	0	0	1	12899	639	23	1		1	PTPRS	19	5273496	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		5273496	53855487	51	19866											
KRTDAP	388533	broad.mit.edu	37	chr19	35979579	35979579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacagatcgcaatttgtcGatgttcaggaacggggtgtt	9	12	12	8	3	2	1	2	0	0	1	4	3	2	2	0	3	1	3	0	3	2	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:35979579G>A	uc002nzh.3	-	2	242	c.153C>T	c.(151-153)atC>atT	p.I51I	KRTDAP_uc021uso.1_Intron	NM_207392	NP_997275	P60985	KTDAP_HUMAN	Homo sapiens keratinocyte differentiation-associated protein (KRTDAP), transcript variant 1, mRNA.	51					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCAATTTGTCGATGTTCAGGA	0.512													A	35979579	G	A	35979579	2	1	283	1	0	0	0	0	0	0	0	1	8639	1048	37	1		1	KRTDAP	19	35979579	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	30706083	35979579	23149404	52	19867											
SIPA1L3	23094	broad.mit.edu	37	chr19	38621245	38621245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggccgaggttgaggaCtatgggttcgcctggcaggc	6	8	18	9	3	0	1	0	1	0	0	1	3	0	2	2	7	0	3	2	7	1	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:38621245C>T	uc002ohk.3	+	9	3485	c.2976C>T	c.(2974-2976)gaC>gaT	p.D992D		NM_015073	NP_055888	O60292	SI1L3_HUMAN	Homo sapiens signal-induced proliferation-associated 1 like 3 (SIPA1L3), mRNA.	992	PDZ.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGGTTGAGGACTATGGGTTCG	0.662													T	38621245	C	T	38621245	2	4	283	1	0	0	0	0	0	0	0	1	14425	564	20	2		2	SIPA1L3	19	38621245	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	2641666	38621245	20507738	53	19868											
LTBP4	8425	broad.mit.edu	37	chr19	41133127	41133127	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgccagactttgaggaCgatggtggcccctatggcga	9	8	14	10	2	0	2	0	1	0	1	0	6	0	3	3	4	1	0	3	4	1	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:41133127C>T	uc002ooh.1	+	31	4431	c.4431C>T	c.(4429-4431)gaC>gaT	p.D1477D	LTBP4_uc002oog.1_Silent_p.D1440D|LTBP4_uc002ooi.1_Silent_p.D1410D|LTBP4_uc002ooj.1_Silent_p.D351D|LTBP4_uc002ook.1_Silent_p.D612D|LTBP4_uc002ool.1_Silent_p.D490D|LTBP4_uc010xvp.1_Silent_p.D238D	NM_001042544	NP_001036009	Q8N2S1	LTBP4_HUMAN	Homo sapiens latent transforming growth factor beta binding protein 4 (LTBP4), transcript variant 1, mRNA.	1478	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACTTTGAGGACGATGGTGGCC	0.701													T	41133127	C	T	41133127	2	4	283	1	0	0	0	0	0	0	0	1	9146	535	19	1		1	LTBP4	19	41133127	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08	2511882	41133127	17995856	54	19869											
CEACAM3	1084	broad.mit.edu	37	chr19	42301582	42301582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactattgaatccatgccGctcagtgtcgcagaggggaa	10	9	11	11	2	2	2	2	1	0	1	4	3	3	3	2	2	1	2	2	2	3	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:42301582G>A	uc002orn.1	+	1	202	c.126G>A	c.(124-126)ccG>ccA	p.P42P	CEACAM3_uc010eia.1_Silent_p.P42P|CEACAM3_uc002oro.1_Non-coding_Transcript	NM_001815	NP_001806	P40198	CEAM3_HUMAN	Homo sapiens carcinoembryonic antigen-related cell adhesion molecule 3 (CEACAM3), mRNA.	42	Ig-like V-type.					integral to membrane		p.P42P(2)		endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(3)|skin(4)|stomach(1)	19						AATCCATGCCGCTCAGTGTCG	0.522													A	42301582	G	A	42301582	2	1	283	1	0	0	0	0	0	0	0	1	3223	1074	38	1		1	CEACAM3	19	42301582	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	1168455	42301582	16827401	55	19870											
PSG3	5669	broad.mit.edu	37	chr19	43383725	43383725	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcagggaggggctgagagGgttcccatggtctctgctgc	5	9	18	9	0	1	1	0	1	1	1	3	3	2	2	1	5	3	4	1	5	0	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chr19:43383725G>T	uc002ovd.1	-	0	147	c.9C>A	c.(7-9)acC>acA	p.T3T	PSG3_uc002ouf.3_Intron|PSG3_uc002oug.1_Silent_p.T3T|PSG3_uc002oun.3_Non-coding_Transcript|PSG3_uc002ovc.3_Silent_p.T3T|PSG3_uc002ova.2_Silent_p.T3T|PSG3_uc002ouz.2_Silent_p.T3T|PSG3_uc002ovb.3_Silent_p.T3T	NM_006905	NP_008836	Q16557	PSG3_HUMAN	Homo sapiens pregnancy specific beta-1-glycoprotein 1 (PSG1), transcript variant 1, mRNA.	3					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				GGGCTGAGAGGGTTCCCATGG	0.572													T	43383725	G	T	43383725	2	4	283	1	0	0	0	0	0	0	0	1	12741	1219	43	4		4	PSG3	19	43383725	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	1082143	43383725	15745258	56	19871											
MAP7D2	256714	broad.mit.edu	37	chrX	20074865	20074865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttcagctccagctgCtgtgtgcgctccagggaccg	4	13	11	13	2	2	0	1	0	1	0	4	1	4	1	3	1	4	4	3	1	0	3			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:20074865C>T	uc010nfo.2	-	3	534	c.417G>A	c.(415-417)caG>caA	p.Q139Q	MAP7D2_uc004czq.2_Silent_p.Q10Q|MAP7D2_uc011mji.2_Silent_p.Q95Q|MAP7D2_uc004czr.2_Silent_p.Q139Q|MAP7D2_uc011mjj.2_Silent_p.Q139Q|MAP7D2_uc004czs.1_Silent_p.Q95Q	NM_001168465	NP_001161937	Q96T17	MA7D2_HUMAN	Homo sapiens MAP7 domain containing 2 (MAP7D2), transcript variant 1, mRNA.	139										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GCTCCAGCTGCTGTGTGCGCT	0.557													T	20074865	C	T	20074865	2	4	283	1	0	0	0	0	0	0	0	1	9343	796	28	2		2	MAP7D2	23	20074865	Silent	SNP	C	TCGA-87-5896-01A-01D-1696-08		20074865	135195695	57	19872											
BCOR	54880	broad.mit.edu	37	chrX	39933293	39933293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctagtggcttatctgtgaCgtctttggtaacggtctgct	5	16	12	8	2	4	1	0	1	4	0	4	1	4	1	0	3	2	3	0	3	3	4			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:39933293C>T	uc004den.4	-	3	1598	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	BCOR_uc004dep.4_Missense_Mutation_p.V436I|BCOR_uc004deo.4_Missense_Mutation_p.V436I|BCOR_uc004dem.4_Missense_Mutation_p.V436I|BCOR_uc004deq.4_Missense_Mutation_p.V436I	NM_001123385	NP_001116857	Q6W2J9	BCOR_HUMAN	Homo sapiens BCL6 corepressor (BCOR), transcript variant 5, mRNA.	436					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTATCTGTGACGTCTTTGGTA	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39933293	C	T	39933293	3	4	283	1	0	0	0	0	1	0	0	0	1391	536	19	1	4009	1	BCOR	23	39933293	Missense_Mutation	SNP	C	TCGA-87-5896-01A-01D-1696-08	19858428	39933293	115337267	58	19873											
ZXDA	7789	broad.mit.edu	37	chrX	57935325	57935325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctgccacaggacacacGaaaggctttgtgcccaggtg	10	6	12	13	1	0	0	0	0	0	0	0	2	0	1	3	3	3	1	3	3	1	1			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:57935325G>A	uc004dve.3	-	0	1743	c.1530C>T	c.(1528-1530)ttC>ttT	p.F510F		NM_007156	NP_009087	P98168	ZXDA_HUMAN	Homo sapiens zinc finger, X-linked, duplicated A (ZXDA), mRNA.	510	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.F510F(2)		breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CAGGACACACGAAAGGCTTTG	0.552													A	57935325	G	A	57935325	2	1	283	1	0	0	0	0	0	0	0	1	18347	1049	37	1		1	ZXDA	23	57935325	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	18002032	57935325	97335235	59	19874											
MAGT1	84061	broad.mit.edu	37	chrX	77112989	77112989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttggagctgaattcatGtttagctgaataaaaacgag	16	11	10	4	1	1	2	1	2	0	0	1	4	1	3	0	1	3	4	0	1	7	5			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:77112989G>T	uc004fof.3	-	3	554	c.492C>A	c.(490-492)aaC>aaA	p.N164K	MAGT1_uc004fog.4_Non-coding_Transcript	NM_032121	NP_115497	Q9H0U3	MAGT1_HUMAN	Homo sapiens magnesium transporter 1 (MAGT1), mRNA.	132					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex				cervix(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	17						CTGAATTCATGTTTAGCTGAA	0.368													T	77112989	G	T	77112989	3	4	283	1	0	0	0	0	1	0	0	0	9271	1368	48	4	639	4	MAGT1	23	77112989	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	19177664	77112989	78157571	60	19875											
RHOXF1	158800	broad.mit.edu	37	chrX	119243159	119243159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcattctagggctagtccacGacgatgtagacacagtcgtc	10	9	11	11	3	1	1	0	0	1	1	4	3	2	1	1	1	0	3	1	1	3	4	rs145568775		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:119243159G>A	uc004esk.1	-	2	621	c.546C>T	c.(544-546)gtC>gtT	p.V182V	AK123976_uc004esi.1_Intron	NM_139282	NP_644811	Q8NHV9	RHXF1_HUMAN	Homo sapiens Rhox homeobox family, member 1 (RHOXF1), mRNA.	182					gamete generation|multicellular organismal development|steroid hormone receptor signaling pathway	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	10						GCTAGTCCACGACGATGTAGA	0.507													A	119243159	G	A	119243159	2	1	283	1	0	0	0	0	0	0	0	1	13436	1045	37	1		1	RHOXF1	23	119243159	Silent	SNP	G	TCGA-87-5896-01A-01D-1696-08	42130170	119243159	36027401	61	19876											
RAP2C	57826	broad.mit.edu	37	chrX	131348336	131348336	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgaaaggacagccccAttcttgagccagagctctgc	10	8	9	14	0	2	3	0	2	2	1	3	4	3	4	4	1	4	1	4	1	1	2			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:131348336A>C	uc004ewp.3	-	2	1196	c.412T>G	c.(412-414)Tgg>Ggg	p.W138G	RAP2C_uc004ewo.3_Missense_Mutation_p.W72G|RAP2C_uc010nrk.3_Non-coding_Transcript|RAP2C_uc004ewq.4_Missense_Mutation_p.W138G	NM_021183	NP_067006	Q9Y3L5	RAP2C_HUMAN	Homo sapiens RAP2C, member of RAS oncogene family (RAP2C), mRNA.	138					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GGACAGCCCCATTCTTGAGCC	0.438													C	131348336	A	C	131348336	3	2	283	1	0	0	0	0	1	0	0	0	13130	217	8	5	143	5	RAP2C	23	131348336	Missense_Mutation	SNP	A	TCGA-87-5896-01A-01D-1696-08	12105177	131348336	23922224	62	19877											
F9	2158	broad.mit.edu	37	chrX	138643011	138643011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttaaaattacagttgtcGcaggtaaatacacagaaaga	17	10	9	5	1	0	2	0	0	0	2	1	2	0	2	0	1	2	4	0	1	7	5	rs137852247		TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:138643011G>A	uc004fas.1	+	6	864	c.835G>A	c.(835-837)Gca>Aca	p.A279T	F9_uc004fat.1_Missense_Mutation_p.A241T	NM_000133	NP_000124	P00740	FA9_HUMAN	Homo sapiens coagulation factor IX (F9), mRNA.	279	Peptidase S1.		A -> T (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TACAGTTGTCGCAGGTAAATA	0.353													A	138643011	G	A	138643011	3	1	283	1	0	0	0	0	1	0	0	0	5396	1087	38	1	861	1	F9	23	138643011	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	7294675	138643011	16627549	63	19878											
FATE1	89885	broad.mit.edu	37	chrX	150891145	150891145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccctggaggaacagggcGccacctggcgccacagggag	8	2	17	14	3	0	0	0	0	0	0	0	3	0	3	4	5	1	0	4	5	1	0			TCGA-87-5896-01A-01D-1696-08	TCGA-87-5896-10A-01D-1696-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	640c33a6-a7df-4dba-9c21-367a9a839f0f	6de80c2c-8a7e-4ec4-9efa-9d43c101306b	g.chrX:150891145G>A	uc004fex.3	+	4	550	c.466G>A	c.(466-468)Gcc>Acc	p.A156T		NM_033085	NP_149076	Q969F0	FATE1_HUMAN	Homo sapiens fetal and adult testis expressed 1 (FATE1), mRNA.	156						endoplasmic reticulum|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(6)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GGAACAGGGCGCCACCTGGCG	0.652													A	150891145	G	A	150891145	3	1	283	1	0	0	0	0	1	0	0	0	5742	1087	38	1	484	1	FATE1	23	150891145	Missense_Mutation	SNP	G	TCGA-87-5896-01A-01D-1696-08	12248134	150891145	4379415	64	19879											
TTLL7	79739	broad.mit.edu	37	chr1	84356051	84356051	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggccacgactccagagTaagcgattaaaaacccggtt	12	8	9	12	3	0	1	0	0	0	1	1	3	1	1	4	2	2	2	4	2	4	4			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:84356051T>C	ENST00000260505.8	-	19	2699	c.2322A>G	c.(2320-2322)ttA>ttG	p.L774L	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	774					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GACTCCAGAGTAAGCGATTAA	0.378													C	84356051	T	C	84356051	2	2	284	1	0	0	0	0	0	0	0	1	16834	1635	57	3		3	TTLL7	1	84356051	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		84356051	164894570	1	19880											
ANXA9	8416	broad.mit.edu	37	chr1	150955565	150955565	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctgtttccttccccaGggcaaccagtagcaccatgt	7	10	9	15	0	0	0	0	0	0	0	3	0	3	0	6	2	2	5	6	2	2	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr1:150955565G>A	ENST00000368947.4	+	3	460		c.e3-1		ANXA9_ENST00000474997.1_Intron	NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9						cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTTCCCCAGGGCAACCAGT	0.622													A	150955565	G	A	150955565	5	1	284	1	0	0	0	0	0	0	1	0	727	1014	35	2		2	ANXA9	1	150955565	Splice_Site	SNP	G	TCGA-CS-4938-01B-11D-1893-08	66599514	150955565	98295056	2	19881											
TPO	7173	broad.mit.edu	37	chr2	1499888	1499888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatggatgccttccaagtcGgcaaattccccgaagacttt	10	10	8	13	2	0	1	0	0	0	1	3	3	2	2	5	2	1	1	5	2	3	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr2:1499888G>A	ENST00000345913.4	+	12	2225	c.2134G>A	c.(2134-2136)Ggc>Agc	p.G712S	TPO_ENST00000349624.3_Missense_Mutation_p.G539S|TPO_ENST00000382198.1_Missense_Mutation_p.G539S|TPO_ENST00000497517.2_Intron|TPO_ENST00000346956.3_Missense_Mutation_p.G712S|TPO_ENST00000337415.3_Missense_Mutation_p.G712S|TPO_ENST00000329066.4_Missense_Mutation_p.G712S|TPO_ENST00000382201.3_Missense_Mutation_p.G655S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	712					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CTTCCAAGTCGGCAAATTCCC	0.562													A	1499888	G	A	1499888	3	1	284	1	0	0	0	0	1	0	0	0	16511	1116	39	1	2176	1	TPO	2	1499888	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		1499888	241699485	3	19882											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	284	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	207613224	209113112	34086261	4	19883											
APPL1	26060	broad.mit.edu	37	chr3	57291436	57291436	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcagcctggccaggcaaaAgcctttggccagggaggcag	10	5	15	11	0	1	0	1	0	0	0	1	2	1	1	4	5	2	2	4	5	2	1			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:57291436A>G	ENST00000288266.3	+	15	1557	c.1410A>G	c.(1408-1410)aaA>aaG	p.K470K		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	470					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCCAGGCAAAAGCCTTTGGCC	0.493													G	57291436	A	G	57291436	2	3	284	1	0	0	0	0	0	0	0	1	820	69	3	3		3	APPL1	3	57291436	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08		57291436	140730994	5	19884											
LEPREL1	55214	broad.mit.edu	37	chr3	189705423	189705423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggcatagaagataggCtttggcacactccagggctt	10	10	13	8	0	0	2	0	0	0	2	1	3	1	3	1	5	0	4	1	5	3	4			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr3:189705423C>A	ENST00000319332.5	-	5	1188	c.991G>T	c.(991-993)Gcc>Tcc	p.A331S	LEPREL1_ENST00000427335.2_Missense_Mutation_p.A150S	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	331					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	AGAAGATAGGCTTTGGCACAC	0.468													A	189705423	C	A	189705423	3	1	284	1	0	0	0	0	1	0	0	0	8789	797	28	4	1179	4	LEPREL1	3	189705423	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	132413987	189705423	8317007	6	19885											
FGF5	2250	broad.mit.edu	37	chr4	81207632	81207632	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacgagggtgcagccccCgggttaaaccccagcatatc	11	5	10	15	2	0	0	0	0	0	0	1	1	0	0	5	2	5	3	5	2	4	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:81207632C>G	ENST00000312465.7	+	3	839	c.613C>G	c.(613-615)Cgg>Ggg	p.R205G	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	205					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						GTGCAGCCCCCGGGTTAAACC	0.463													G	81207632	C	G	81207632	3	3	284	1	0	0	0	0	1	0	0	0	5904	643	23	4	623	4	FGF5	4	81207632	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08		81207632	109946644	7	19886											
ENPEP	2028	broad.mit.edu	37	chr4	111441429	111441429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagacagatgggttatcCtgtgcttaacgtgaacggtg	10	10	13	8	2	0	3	0	1	0	2	1	4	1	3	2	2	3	2	2	2	3	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:111441429C>G	ENST00000265162.5	+	10	1976	c.1634C>G	c.(1633-1635)cCt>cGt	p.P545R		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	545					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	ATGGGTTATCCTGTGCTTAAC	0.428													G	111441429	C	G	111441429	3	3	284	1	0	0	0	0	1	0	0	0	5169	681	24	4	1672	4	ENPEP	4	111441429	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	30233797	111441429	79712847	8	19887											
ADAD1	132612	broad.mit.edu	37	chr4	123336616	123336616	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacttcaaaacttccAatgttttacttagtcaacag	13	13	4	11	0	3	0	3	0	0	0	4	0	4	0	1	0	3	2	1	0	6	5			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:123336616A>T	ENST00000296513.2	+	11	1517	c.1332A>T	c.(1330-1332)ccA>ccT	p.P444P	ADAD1_ENST00000388724.2_Silent_p.P433P|ADAD1_ENST00000388725.2_Silent_p.P426P	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	444	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAAAACTTCCAATGTTTTACT	0.378													T	123336616	A	T	123336616	2	4	284	1	0	0	0	0	0	0	0	1	231	117	5	5		5	ADAD1	4	123336616	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08	11895187	123336616	67817660	9	19888											
TKTL2	84076	broad.mit.edu	37	chr4	164393959	164393959	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accaactttgtaagcaggtgGggaggtcatttttatatctg	10	14	11	6	0	2	0	1	0	1	0	2	1	2	1	1	4	2	2	1	4	4	6			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr4:164393959G>C	ENST00000280605.3	-	1	1088	c.928C>G	c.(928-930)Cca>Gca	p.P310A		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	310						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				taagcaggtggggaggtcatt	0.408													C	164393959	G	C	164393959	3	2	284	1	0	0	0	0	1	0	0	0	16036	1232	43	4	956	4	TKTL2	4	164393959	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08	41057343	164393959	26760317	10	19889											
TRERF1	55809	broad.mit.edu	37	chr6	42196227	42196227	+	Frame_Shift_Del	DEL	G	G	-																															tccacatccttgatgggtttGatcagactcagctggtccag																										TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr6:42196227delG	ENST00000541110.1	-	18	4087	c.3519delC	c.(3517-3519)atcfs	p.I1173fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.I1082fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.I1082fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.I1153fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.I1070fs			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1153	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)			TGATGGGTTTGATCAGACTCA	0.602													-	42196227	G	-	42196227	7	5	284	1	0	1	0	1	0	0	0	0	16576	1280	45	0	147	0	TRERF1	6	42196227	Frame_Shift_Del	DEL	G	TCGA-CS-4938-01B-11D-1893-08		42196227	128918840	11	19890											
NFE2L3	9603	broad.mit.edu	37	chr7	26224962	26224962	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaaagctttgcatatcccTttttctgtagatgaaattgt	10	17	7	7	0	1	2	0	1	1	1	2	2	2	2	1	0	2	4	1	0	5	7			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:26224962T>C	ENST00000056233.3	+	4	1903	c.1644T>C	c.(1642-1644)ccT>ccC	p.P548P		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	548					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						TGCATATCCCTTTTTCTGTAG	0.418													C	26224962	T	C	26224962	2	2	284	1	0	0	0	0	0	0	0	1	10445	1596	56	3		3	NFE2L3	7	26224962	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		26224962	132913701	12	19891											
ADAM22	53616	broad.mit.edu	37	chr7	87757957	87757957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagaagaagaaaccaaatAcattgaactgatgattgtga	18	10	9	4	0	0	7	0	4	0	3	0	7	0	7	1	0	3	1	1	0	7	4			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr7:87757957A>G	ENST00000398204.4	+	9	1042	c.719A>G	c.(718-720)tAc>tGc	p.Y240C	ADAM22_ENST00000398201.4_Missense_Mutation_p.Y240C|ADAM22_ENST00000398209.3_Missense_Mutation_p.Y240C|ADAM22_ENST00000265727.7_Missense_Mutation_p.Y240C|ADAM22_ENST00000439864.1_Missense_Mutation_p.Y240C|ADAM22_ENST00000315984.7_Missense_Mutation_p.Y240C	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	240	Peptidase M12B.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			GAAACCAAATACATTGAACTG	0.403													G	87757957	A	G	87757957	3	3	284	1	0	0	0	0	1	0	0	0	244	391	14	3	753	3	ADAM22	7	87757957	Missense_Mutation	SNP	A	TCGA-CS-4938-01B-11D-1893-08	61532995	87757957	71380706	13	19892											
ARHGAP22	58504	broad.mit.edu	37	chr10	49791051	49791051	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctgatccccacgcaGcacaaaccagcgctgctgcc	12	4	9	16	2	0	1	0	1	0	0	1	2	1	1	4	0	6	5	4	0	3	0			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr10:49791051G>A	ENST00000249601.4	-	2	477	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	ARHGAP22_ENST00000491108.1_5'UTR|ARHGAP22_ENST00000417912.2_Silent_p.L61L|ARHGAP22_ENST00000435790.2_Silent_p.L67L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	61	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TCCCCACGCAGCACAAACCAG	0.607													A	49791051	G	A	49791051	2	1	284	1	0	0	0	0	0	0	0	1	875	962	34	2		2	ARHGAP22	10	49791051	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08		49791051	85743696	14	19893											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195379	18195379	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatgtgtggttctctgTgtttccagcctggtcctgct	2	20	10	9	0	1	0	0	0	1	0	4	0	3	0	3	2	2	3	3	2	1	5			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr11:18195379T>C	ENST00000314254.3	+	1	996	c.576T>C	c.(574-576)tgT>tgC	p.C192C	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	192						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGGTTCTCTGTGTTTCCAGCC	0.522													C	18195379	T	C	18195379	2	2	284	1	0	0	0	0	0	0	0	1	9845	1702	59	3		3	MRGPRX4	11	18195379	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08		18195379	116811137	15	19894											
PUS7L	83448	broad.mit.edu	37	chr12	44149037	44149037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctgattctataatctgtAtcttcttccattcttctata	10	19	2	10	0	6	1	0	1	6	0	7	1	7	1	2	0	1	1	2	0	6	10			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr12:44149037A>G	ENST00000416848.2	-	2	500	c.12T>C	c.(10-12)gaT>gaC	p.D4D	PUS7L_ENST00000344862.5_Silent_p.D4D|PUS7L_ENST00000551923.1_Silent_p.D4D|PUS7L_ENST00000553166.1_Silent_p.D4D|PUS7L_ENST00000431332.3_Intron	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	4					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TATAATCTGTATCTTCTTCCA	0.333													G	44149037	A	G	44149037	2	3	284	1	0	0	0	0	0	0	0	1	12922	446	16	3		3	PUS7L	12	44149037	Silent	SNP	A	TCGA-CS-4938-01B-11D-1893-08		44149037	89702858	16	19895											
ATP2C2	9914	broad.mit.edu	37	chr16	84476138	84476138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctgtgttgccaacaatgCggtcatcagaaagaacgccg	11	7	13	10	3	2	2	2	0	0	2	2	2	2	2	2	2	4	2	2	2	4	1			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr16:84476138C>T	ENST00000416219.2	+	15	1423	c.1334C>T	c.(1333-1335)gCg>gTg	p.A445V	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.A445V			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	445					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GCCAACAATGCGGTCATCAGA	0.552													T	84476138	C	T	84476138	3	4	284	1	0	0	0	0	1	0	0	0	1149	768	27	1	1392	1	ATP2C2	16	84476138	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08		84476138	5878615	17	19896											
PRPF8	10594	broad.mit.edu	37	chr17	1577065	1577065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatcatgtttcatgaggcGcatgcgggcatctcggggcc	8	9	13	11	3	3	1	2	1	1	0	4	1	3	1	1	4	2	3	1	4	1	1			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:1577065G>A	ENST00000572621.1	-	21	3686	c.3421C>T	c.(3421-3423)Cgc>Tgc	p.R1141C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1141C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1141						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTCATGAGGCGCATGCGGGCA	0.517													A	1577065	G	A	1577065	3	1	284	1	0	0	0	0	1	0	0	0	12661	1087	38	1	3674	1	PRPF8	17	1577065	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		1577065	79618145	18	19897											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	284	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08	6000474	7577539	73617671	19	19898											
C3	718	broad.mit.edu	37	chr19	6686853	6686853	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacagtgtaggatctctGtaggttcatgtagttggctt	7	14	13	7	0	2	0	1	0	1	0	3	1	2	1	1	4	0	6	1	4	3	6			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:6686853G>A	ENST00000245907.6	-	28	3642	c.3550C>T	c.(3550-3552)Cag>Tag	p.Q1184*		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1184					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TAGGATCTCTGTAGGTTCATG	0.512													A	6686853	G	A	6686853	4	1	284	1	0	0	0	0	0	1	0	0	2225	1386	48	2	1497	2	C3	19	6686853	Nonsense_Mutation	SNP	G	TCGA-CS-4938-01B-11D-1893-08		6686853	52442130	20	19899											
KLK10	5655	broad.mit.edu	37	chr19	51518742	51518742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaccacgccagggtagaaGacctcacactctttagggct	10	8	11	12	1	2	3	1	1	1	2	2	3	2	3	3	2	0	2	3	2	3	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr19:51518742G>A	ENST00000309958.3	-	5	827	c.609C>T	c.(607-609)gtC>gtT	p.V203V	KLK10_ENST00000358789.3_Silent_p.V203V|KLK10_ENST00000391805.1_Silent_p.V203V	NM_002776.4	NP_002767.2	O43240	KLK10_HUMAN	kallikrein-related peptidase 10	203	Peptidase S1.				cell cycle|proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00885)		CAGGGTAGAAGACCTCACACT	0.552													A	51518742	G	A	51518742	2	1	284	1	0	0	0	0	0	0	0	1	8456	929	33	2		2	KLK10	19	51518742	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08	44831889	51518742	7610241	21	19900											
BAGE2	85319	broad.mit.edu	37	chr21	11047523	11047523	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtacagatttcataattcgTtgaagacaaaaagtatgata	17	12	8	4	1	1	4	1	2	0	2	2	4	1	4	0	1	1	3	0	1	7	7			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr21:11047523T>C	ENST00000470054.1	-	0	731									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATAATTCGTTGAAGACAAA	0.353													C	11047523	T	C	11047523	1	2	284	0	1	0	0	0	0	0	0	0	1297	1740	60	3		3	BAGE2	21	11047523	RNA	SNP	T	TCGA-CS-4938-01B-11D-1893-08		11047523	37082372	22	19901											
SLC5A1	6523	broad.mit.edu	37	chr22	32498215	32498215	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaccaaacccattccGgatgtgcatgtgagtatcca	10	10	7	14	1	1	1	1	1	0	0	4	2	4	2	5	1	2	2	5	1	2	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:32498215G>A	ENST00000266088.4	+	13	1906	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	SLC5A1_ENST00000543737.1_Silent_p.P425P	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	552					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.P552P(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						AACCCATTCCGGATGTGCATG	0.403													A	32498215	G	A	32498215	2	1	284	1	0	0	0	0	0	0	0	1	14755	1103	39	1		1	SLC5A1	22	32498215	Silent	SNP	G	TCGA-CS-4938-01B-11D-1893-08		32498215	18806351	23	19902											
RPS19BP1	91582	broad.mit.edu	37	chr22	39925565	39925565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacggtgccctcagcctTcttcttcttggtcttggcca	5	13	9	14	1	5	0	1	0	4	0	5	1	5	0	3	3	3	0	3	3	1	5	rs138779327	by1000genomes	TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chr22:39925565T>C	ENST00000334678.3	-	4	459	c.343A>G	c.(343-345)Aag>Gag	p.K115E		NM_194326.2	NP_919307.1	Q86WX3	AROS_HUMAN	ribosomal protein S19 binding protein 1	115						nucleolus|nucleoplasm				endometrium(1)|kidney(1)|large_intestine(1)	3	Melanoma(58;0.04)					CCCTCAGCCTTCTTCTTCTTG	0.607											OREG0026578	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39925565	T	C	39925565	3	2	284	1	0	0	0	0	1	0	0	0	13721	1792	62	3	71	3	RPS19BP1	22	39925565	Missense_Mutation	SNP	T	TCGA-CS-4938-01B-11D-1893-08	7427350	39925565	11379001	24	19903											
ATRX	546	broad.mit.edu	37	chrX	76939674	76939674	+	Frame_Shift_Del	DEL	T	T	-																															ttggctgtggtctcaatcagTttttttgccttcttaatcat																										TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:76939674delT	ENST00000373344.5	-	9	1288	c.1074delA	c.(1072-1074)aaafs	p.K358fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K320fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	358					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)	TCTCAATCAGTTTTTTTGCCT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939674	T	-	76939674	7	5	284	1	0	1	0	1	0	0	0	0	1213	1722	60	0	6512	0	ATRX	23	76939674	Frame_Shift_Del	DEL	T	TCGA-CS-4938-01B-11D-1893-08		76939674	78330886	25	19904											
ACTRT1	139741	broad.mit.edu	37	chrX	127186136	127186136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctttgcagagtcctgaaCcattgtcaaaaattacagca	13	11	7	10	0	1	2	1	1	0	1	2	2	2	2	2	0	5	3	2	0	4	3			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:127186136C>A	ENST00000371124.3	-	1	246	c.50G>T	c.(49-51)gGt>gTt	p.G17V		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	17						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GAGTCCTGAACCATTGTCAAA	0.433													A	127186136	C	A	127186136	3	1	284	1	0	0	0	0	1	0	0	0	218	507	18	4	1084	4	ACTRT1	23	127186136	Missense_Mutation	SNP	C	TCGA-CS-4938-01B-11D-1893-08	50246462	127186136	28084424	26	19905											
ZNF185	7739	broad.mit.edu	37	chrX	152083048	152083048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccatgagtatctcagcTcttggaggccgcaccaaagg	11	8	10	12	1	3	1	2	1	2	0	4	2	3	2	3	3	1	3	3	3	2	2			TCGA-CS-4938-01B-11D-1893-08	TCGA-CS-4938-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d2ec659e-22b1-4ff3-ad03-770c74414e05	4db52c00-aa66-48f7-b32b-1c2ec0dec7f5	g.chrX:152083048T>C	ENST00000535861.1	+	1	63	c.15T>C	c.(13-15)gcT>gcC	p.A5A	ZNF185_ENST00000318504.7_Silent_p.A5A|ZNF185_ENST00000370270.2_Silent_p.A5A|ZNF185_ENST00000324823.6_5'UTR|ZNF185_ENST00000449285.2_Silent_p.A5A|ZNF185_ENST00000539731.1_Silent_p.A5A|ZNF185_ENST00000370268.4_Silent_p.A5A	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	5						cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					GTATCTCAGCTCTTGGAGGCC	0.547													C	152083048	T	C	152083048	2	2	284	1	0	0	0	0	0	0	0	1	17853	1538	54	3		3	ZNF185	23	152083048	Silent	SNP	T	TCGA-CS-4938-01B-11D-1893-08	24896912	152083048	3187512	27	19906											
NBL1	4681	broad.mit.edu	37	chr1	19981874	19981874	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccttcccacagtccacAgagtccctggttcactgtga	10	9	7	15	0	1	2	1	1	0	1	4	2	4	2	4	1	1	1	4	1	1	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:19981874A>C	ENST00000375136.3	+	3	531	c.228A>C	c.(226-228)acA>acC	p.T76T	MINOS1-NBL1_ENST00000602662.1_Silent_p.T76T|NBL1_ENST00000548815.1_Silent_p.T75T|NBL1_ENST00000289749.2_Silent_p.T111T	NM_001204085.1|NM_001204089.1|NM_001278164.1|NM_001278166.1	NP_001191014.1|NP_001191018.1|NP_001265093.1|NP_001265095.1	P41271	NBL1_HUMAN	neuroblastoma 1, DAN family BMP antagonist	75	CTCK.					extracellular region				lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00043)|Ovarian(437;0.00373)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.9e-05)|Kidney(64;0.000173)|GBM - Glioblastoma multiforme(114;0.0012)|KIRC - Kidney renal clear cell carcinoma(64;0.0026)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CACAGTCCACAGAGTCCCTGG	0.622													C	19981874	A	C	19981874	2	2	285	1	0	0	0	0	0	0	0	1	10266	175	7	5		5	NBL1	1	19981874	Silent	SNP	A	TCGA-CS-4941-01A-01D-1468-08		19981874	229268747	1	19907											
LIN28A	79727	broad.mit.edu	37	chr1	26751934	26751934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtattgggagtgagaggcgGccaaaaggaaagagcatgca	14	6	16	5	1	0	2	0	1	0	2	0	5	0	4	1	4	2	3	1	4	4	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:26751934G>A	ENST00000326279.6	+	3	483	c.369G>A	c.(367-369)cgG>cgA	p.R123R	LIN28A_ENST00000254231.4_Silent_p.R123R	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	123					miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						GTGAGAGGCGGCCAAAAGGAA	0.512													A	26751934	G	A	26751934	2	1	285	1	0	0	0	0	0	0	0	1	8866	1190	42	2		2	LIN28A	1	26751934	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	6770060	26751934	222498687	2	19908											
ERI3	79033	broad.mit.edu	37	chr1	44804751	44804751	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttgtcgcacgtggccTcaaagtccagcactaaaaag	11	8	11	11	2	1	0	1	0	0	0	3	0	2	0	2	2	1	3	2	2	4	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:44804751T>G	ENST00000372257.2	-	3	636	c.455A>C	c.(454-456)gAg>gCg	p.E152A	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	152	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCACGTGGCCTCAAAGTCCAG	0.547													G	44804751	T	G	44804751	3	3	285	1	0	0	0	0	1	0	0	0	5270	1551	54	5	586	5	ERI3	1	44804751	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	18052817	44804751	204445870	3	19909											
ANKRD34A	284615	broad.mit.edu	37	chr1	145473827	145473827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaattctccaccatccccaGgggtggaggaccctgctccc	7	8	9	17	0	2	0	1	0	1	0	5	2	4	2	6	4	1	1	6	4	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:145473827G>A	ENST00000323397.4	+	4	1792	c.499G>A	c.(499-501)Ggg>Agg	p.G167R		NM_001039888.2	NP_001034977.1	Q69YU3	AN34A_HUMAN	ankyrin repeat domain 34A	167										endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	20	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					ACCATCCCCAGGGGTGGAGGA	0.617													A	145473827	G	A	145473827	3	1	285	1	0	0	0	0	1	0	0	0	662	1000	35	2	501	2	ANKRD34A	1	145473827	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	100669076	145473827	103776794	4	19910											
FLG	2312	broad.mit.edu	37	chr1	152275719	152275719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtttctggaagcagaCtcagatcgcctctcagagtc	9	11	11	10	1	3	4	2	1	2	3	6	5	3	5	1	2	1	2	1	2	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152275719C>T	ENST00000368799.1	-	3	11678	c.11643G>A	c.(11641-11643)gaG>gaA	p.E3881E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3881	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGAAGCAGACTCAGATCGCC	0.567									Ichthyosis				T	152275719	C	T	152275719	2	4	285	1	0	0	0	0	0	0	0	1	5971	564	20	2		2	FLG	1	152275719	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	6801892	152275719	96974902	5	19911											
CRNN	49860	broad.mit.edu	37	chr1	152383181	152383181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatgctgccctttccccGcccttcccacttcagtgcca	6	11	5	19	1	1	0	1	0	0	0	3	0	3	0	6	0	3	1	6	0	1	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:152383181G>A	ENST00000271835.3	-	3	439	c.377C>T	c.(376-378)gCg>gTg	p.A126V	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	126					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTTTCCCCGCCCTTCCCAC	0.637													A	152383181	G	A	152383181	3	1	285	1	0	0	0	0	1	0	0	0	3923	1087	38	1	1114	1	CRNN	1	152383181	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	107462	152383181	96867440	6	19912											
PEAR1	375033	broad.mit.edu	37	chr1	156883725	156883725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaccatccgggacctgcCcagcttgccagggggccccc	5	5	12	19	1	0	0	0	0	0	0	1	1	1	1	8	3	4	1	8	3	0	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:156883725C>T	ENST00000338302.3	+	23	3020	c.2795C>T	c.(2794-2796)cCc>cTc	p.P932L	PEAR1_ENST00000292357.7_Missense_Mutation_p.P932L			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	932	Pro-rich.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CGGGACCTGCCCAGCTTGCCA	0.617													T	156883725	C	T	156883725	3	4	285	1	0	0	0	0	1	0	0	0	11788	623	22	2	2877	2	PEAR1	1	156883725	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	4500544	156883725	92366896	7	19913											
PAPPA2	60676	broad.mit.edu	37	chr1	176525627	176525627	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggctgggggccaaggttCgaagacccagagcttctcca	8	8	14	11	1	1	2	0	0	1	2	3	3	1	2	3	4	1	4	3	4	2	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:176525627C>T	ENST00000367662.3	+	2	1333	c.169C>T	c.(169-171)Cga>Tga	p.R57*	PAPPA2_ENST00000367661.3_Nonsense_Mutation_p.R57*	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	57					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						GGCCAAGGTTCGAAGACCCAG	0.567													T	176525627	C	T	176525627	4	4	285	1	0	0	0	0	0	1	0	0	11509	876	31	1	171	1	PAPPA2	1	176525627	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	19641902	176525627	72724994	8	19914											
RGS21	431704	broad.mit.edu	37	chr1	192321182	192321182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatattttatagctggtCtagatgcttttcgaatattt	10	20	6	5	1	2	1	1	0	1	1	3	2	2	1	0	1	2	2	0	1	7	10			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:192321182C>A	ENST00000417209.2	+	4	268	c.94C>A	c.(94-96)Cta>Ata	p.L32I		NM_001039152.3	NP_001034241.1	Q2M5E4	RGS21_HUMAN	regulator of G-protein signaling 21	32	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			NS(1)|endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	15						TATAGCTGGTCTAGATGCTTT	0.303													A	192321182	C	A	192321182	3	1	285	1	0	0	0	0	1	0	0	0	13393	912	32	4	104	4	RGS21	1	192321182	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15795555	192321182	56929439	9	19915											
IKBKE	9641	broad.mit.edu	37	chr1	206647731	206647731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagctacctgcggcccCgcgaggtgcaagtgagggag	8	5	15	13	3	0	1	0	1	0	0	0	3	0	2	4	3	5	2	4	3	3	2	rs143140330		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr1:206647731C>T	ENST00000367120.3	+	4	518	c.145C>T	c.(145-147)Cgc>Tgc	p.R49C	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	49	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTGCGGCCCCGCGAGGTGCA	0.582													T	206647731	C	T	206647731	3	4	285	1	0	0	0	0	1	0	0	0	7670	652	23	1	151	1	IKBKE	1	206647731	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	14326549	206647731	42602890	10	19916											
SOCS5	9655	broad.mit.edu	37	chr2	46985884	46985884	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactgggattaagcccttCgaagaattcttcaaggagaa	15	9	9	8	1	2	2	1	0	1	2	3	5	2	3	1	2	2	0	1	2	6	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:46985884C>A	ENST00000306503.5	+	2	387	c.215C>A	c.(214-216)tCg>tAg	p.S72*	SOCS5_ENST00000394861.2_Nonsense_Mutation_p.S72*	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	72					cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TTAAGCCCTTCGAAGAATTCT	0.388													A	46985884	C	A	46985884	4	1	285	1	0	0	0	0	0	1	0	0	15011	893	31	4	217	4	SOCS5	2	46985884	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		46985884	196213489	11	19917											
CLASP1	23332	broad.mit.edu	37	chr2	122139824	122139824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagccttgtgggagggagCggtggggatggagttaggct	7	8	22	4	1	0	1	0	0	0	1	0	6	0	5	1	7	2	2	1	7	1	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:122139824C>T	ENST00000263710.4	-	33	3840	c.3451G>A	c.(3451-3453)Gct>Act	p.A1151T	CLASP1_ENST00000541377.1_Intron|CLASP1_ENST00000455322.2_Intron|CLASP1_ENST00000409078.3_Intron|CLASP1_ENST00000397587.3_Intron|CLASP1_ENST00000545861.1_Intron|CLASP1_ENST00000541859.1_Intron	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1151					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TGGGAGGGAGCGGTGGGGATG	0.522													T	122139824	C	T	122139824	3	4	285	1	0	0	0	0	1	0	0	0	3485	768	27	1	1197	1	CLASP1	2	122139824	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	75153940	122139824	121059549	12	19918											
BIN1	274	broad.mit.edu	37	chr2	127828379	127828379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagatccttctgcagcCgggtgccctccgtctgcaaa	6	9	11	15	3	2	1	0	0	2	1	5	2	5	1	5	2	4	2	5	2	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:127828379C>T	ENST00000316724.5	-	3	590	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	BIN1_ENST00000259238.4_Missense_Mutation_p.R60Q|BIN1_ENST00000393041.3_Missense_Mutation_p.R60Q|BIN1_ENST00000357970.3_Missense_Mutation_p.R60Q|BIN1_ENST00000376113.2_Missense_Mutation_p.R60Q|BIN1_ENST00000346226.3_Missense_Mutation_p.R60Q|BIN1_ENST00000351659.3_Missense_Mutation_p.R60Q|BIN1_ENST00000393040.3_Missense_Mutation_p.R60Q|BIN1_ENST00000348750.4_Missense_Mutation_p.R60Q|BIN1_ENST00000352848.3_Missense_Mutation_p.R60Q|BIN1_ENST00000409400.1_Missense_Mutation_p.R60Q	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	60	BAR.|Interaction with BIN2.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		CTTCTGCAGCCGGGTGCCCTC	0.637													T	127828379	C	T	127828379	3	4	285	1	0	0	0	0	1	0	0	0	1438	652	23	1	1719	1	BIN1	2	127828379	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	5688555	127828379	115370994	13	19919											
LCT	3938	broad.mit.edu	37	chr2	136567270	136567270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggagaacttttcccaaaCgactttagccttggagggca	10	10	11	10	1	0	1	0	0	0	1	1	4	1	2	2	3	3	2	2	3	3	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:136567270C>T	ENST00000264162.2	-	8	2657	c.2647G>A	c.(2647-2649)Gtt>Att	p.V883I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	883	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTTTCCCAAACGACTTTAGCC	0.502													T	136567270	C	T	136567270	3	4	285	1	0	0	0	0	1	0	0	0	8752	536	19	1	3176	1	LCT	2	136567270	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	8738891	136567270	106632103	14	19920											
TTN	7273	broad.mit.edu	37	chr2	179465605	179465605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggtctttgacagtcacagGgccaacagtggctgaaggct	9	9	13	10	0	2	2	1	2	1	0	2	2	2	2	1	4	1	2	1	4	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:179465605G>A	ENST00000589042.1	-	288	56250	c.56026C>T	c.(56026-56028)Cct>Tct	p.P18676S	TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P9736S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P17035S|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P9803S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P16108S|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P9611S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17035	Fibronectin type-III 35.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGTCACAGGGCCAACAGTG	0.448													A	179465605	G	A	179465605	3	1	285	1	0	0	0	0	1	0	0	0	16837	1232	43	2	51967	2	TTN	2	179465605	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	42898335	179465605	63733768	15	19921											
SDPR	8436	broad.mit.edu	37	chr2	192711355	192711355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcctggtacttggagagCttggtgaggtcattctggat	7	12	16	6	0	2	2	1	1	1	1	2	5	2	3	1	6	2	2	1	6	1	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:192711355C>T	ENST00000304141.4	-	1	626	c.297G>A	c.(295-297)aaG>aaA	p.K99K	AC098617.1_ENST00000424116.2_RNA	NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	99						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	ACTTGGAGAGCTTGGTGAGGT	0.592													T	192711355	C	T	192711355	2	4	285	1	0	0	0	0	0	0	0	1	14063	796	28	2		2	SDPR	2	192711355	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	13245750	192711355	50488018	16	19922											
ANKRD44	91526	broad.mit.edu	37	chr2	197943464	197943464	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgcccataggcggcagcaTaatgtatgctattgtaacct	10	12	10	9	1	0	0	0	0	0	0	0	0	0	0	2	2	4	5	2	2	5	6			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr2:197943464T>G	ENST00000328737.2	-	16	1614	c.1538A>C	c.(1537-1539)tAt>tCt	p.Y513S	ANKRD44_ENST00000337207.5_Missense_Mutation_p.Y513S|ANKRD44_ENST00000409153.1_Missense_Mutation_p.Y538S|ANKRD44_ENST00000282272.8_Missense_Mutation_p.Y530S|ANKRD44_ENST00000450567.1_Missense_Mutation_p.Y513S|ANKRD44_ENST00000539527.1_Missense_Mutation_p.Y466S			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	538							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GGCGGCAGCATAATGTATGCT	0.413													G	197943464	T	G	197943464	3	3	285	1	0	0	0	0	1	0	0	0	672	1406	49	5	1265	5	ANKRD44	2	197943464	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	5232109	197943464	45255909	17	19923											
PDGFRA	5156	broad.mit.edu	37	chr4	55161298	55161298	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctccctcctccagctcgcaGacctctgaagagagtgccat	8	9	8	16	1	2	3	0	1	2	2	6	4	4	3	5	0	2	2	5	0	1	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:55161298G>C	ENST00000257290.5	+	23	3460	c.3129G>C	c.(3127-3129)caG>caC	p.Q1043H	FIP1L1_ENST00000507166.1_Missense_Mutation_p.Q803H	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1043	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCAGCTCGCAGACCTCTGAAG	0.507			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55161298	G	C	55161298	3	2	285	1	0	0	0	0	1	0	0	0	11737	933	33	4	3215	4	PDGFRA	4	55161298	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08		55161298	135992978	18	19924											
GK2	2712	broad.mit.edu	37	chr4	80328975	80328975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttcctggaatttttttaCtaagatcctcaacagtagtc	11	17	5	8	0	1	1	1	0	0	1	4	2	3	2	2	1	2	1	2	1	6	8			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:80328975C>T	ENST00000358842.3	-	1	397	c.380G>A	c.(379-381)aGt>aAt	p.S127N		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	127					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTTTTTTACTAAGATCCTC	0.428													T	80328975	C	T	80328975	3	4	285	1	0	0	0	0	1	0	0	0	6477	565	20	2	1285	2	GK2	4	80328975	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	25167677	80328975	110825301	19	19925											
CAMK2D	817	broad.mit.edu	37	chr4	114680566	114680566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttctcaccactgagaatgCccccctggaaaccaataatt	12	10	5	14	0	2	1	1	1	2	1	3	3	2	2	5	1	2	0	5	1	4	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:114680566C>T	ENST00000454265.2	-	2	928	c.70G>A	c.(70-72)Gca>Aca	p.A24T	CAMK2D_ENST00000511664.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000509907.1_5'UTR|CAMK2D_ENST00000394526.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000508738.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000296402.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000418639.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000515496.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000342666.5_Missense_Mutation_p.A24T|CAMK2D_ENST00000379773.2_Missense_Mutation_p.A24T|CAMK2D_ENST00000394522.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000394524.3_Missense_Mutation_p.A24T|CAMK2D_ENST00000505990.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000429180.1_Missense_Mutation_p.A24T|CAMK2D_ENST00000514328.1_Missense_Mutation_p.A24T			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	24	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		ACTGAGAATGCCCCCCTGGAA	0.323													T	114680566	C	T	114680566	3	4	285	1	0	0	0	0	1	0	0	0	2627	739	26	2	1592	2	CAMK2D	4	114680566	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	34351591	114680566	76473710	20	19926											
FGA	2243	broad.mit.edu	37	chr4	155505774	155505774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaattctccttccccctcGtcattcaggctgccgaaacc	8	10	6	17	2	3	1	2	0	1	1	6	2	4	1	5	1	2	1	5	1	2	3	rs148411201		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr4:155505774G>A	ENST00000302053.3	-	6	2181	c.2103C>T	c.(2101-2103)gaC>gaT	p.D701D		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	701	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.D701D(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CTTCCCCCTCGTCATTCAGGC	0.493													A	155505774	G	A	155505774	2	1	285	1	0	0	0	0	0	0	0	1	5879	1136	40	1		1	FGA	4	155505774	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	40825208	155505774	35648502	21	19927											
BASP1	10409	broad.mit.edu	37	chr5	17275508	17275508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagaagcccgaccaggaCgccgagggcaaggccgagga	13	0	17	11	4	0	1	0	0	0	1	0	7	0	3	4	5	1	1	4	5	3	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:17275508C>T	ENST00000322611.3	+	2	443	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1	61					glomerular visceral epithelial cell differentiation|negative regulation of transcription, DNA-dependent	cytoplasm|cytoskeleton|growth cone|nuclear speck|plasma membrane	protein domain specific binding|transcription corepressor activity|transcription regulatory region DNA binding			endometrium(1)|lung(8)	9						CCGACCAGGACGCCGAGGGCA	0.736													T	17275508	C	T	17275508	2	4	285	1	0	0	0	0	0	0	0	1	1322	535	19	1		1	BASP1	5	17275508	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		17275508	163639752	22	19928											
CDH9	1007	broad.mit.edu	37	chr5	26881407	26881407	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttcataggcatacgtTgccagcgaatcatatggagg	10	11	10	10	2	2	0	2	0	0	0	3	2	3	1	2	3	3	2	2	3	4	6			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:26881407T>G	ENST00000231021.4	-	12	2380	c.2208A>C	c.(2206-2208)gcA>gcC	p.A736A		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	736					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						AGGCATACGTTGCCAGCGAAT	0.418													G	26881407	T	G	26881407	2	3	285	1	0	0	0	0	0	0	0	1	3147	1799	63	5		5	CDH9	5	26881407	Silent	SNP	T	TCGA-CS-4941-01A-01D-1468-08	9605899	26881407	154033853	23	19929											
EGFLAM	133584	broad.mit.edu	37	chr5	38427311	38427311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttggcagggggccacGtggagttccgctttgactgt	6	11	14	10	2	1	1	1	1	0	0	2	2	2	2	2	4	1	3	2	4	1	3	rs147520523	byFrequency	TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:38427311G>A	ENST00000322350.5	+	14	2357	c.2011G>A	c.(2011-2013)Gtg>Atg	p.V671M	EGFLAM_ENST00000336740.6_Missense_Mutation_p.V437M|EGFLAM_ENST00000354891.3_Missense_Mutation_p.V671M|EGFLAM_ENST00000397202.2_Missense_Mutation_p.V37M|EGFLAM-AS1_ENST00000508986.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	671	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					AGGGGGCCACGTGGAGTTCCG	0.522													A	38427311	G	A	38427311	3	1	285	1	0	0	0	0	1	0	0	0	5005	1145	40	1	2079	1	EGFLAM	5	38427311	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	11545904	38427311	142487949	24	19930											
ZNF366	167465	broad.mit.edu	37	chr5	71756221	71756221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcgaggccgcactccAcacagatgttctcgcgccca	9	6	11	15	4	1	1	0	0	1	1	4	3	2	2	3	2	0	2	3	2	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:71756221A>G	ENST00000318442.5	-	2	1593	c.1103T>C	c.(1102-1104)gTg>gCg	p.V368A		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCCGCACTCCACACAGATGTT	0.657													G	71756221	A	G	71756221	3	3	285	1	0	0	0	0	1	0	0	0	17971	159	6	3	1147	3	ZNF366	5	71756221	Missense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	33328910	71756221	109159039	25	19931											
DMGDH	29958	broad.mit.edu	37	chr5	78347300	78347300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccatctccaggattataCaatccagctaaaacctaaat	16	10	4	11	0	1	1	0	1	1	0	3	2	2	2	4	1	3	1	4	1	7	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:78347300C>A	ENST00000255189.3	-	5	583	c.555G>T	c.(553-555)ttG>ttT	p.L185F	DMGDH_ENST00000380311.4_Intron|DMGDH_ENST00000540686.1_Intron	NM_013391.2	NP_037523.2	Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	185					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		CAGGATTATACAATCCAGCTA	0.363													A	78347300	C	A	78347300	3	1	285	1	0	0	0	0	1	0	0	0	4620	477	17	4	2093	4	DMGDH	5	78347300	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	6591079	78347300	102567960	26	19932											
ARHGAP26	23092	broad.mit.edu	37	chr5	142526856	142526856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctcatcaaatccaaacaGcatccttaattccagcagca	14	10	4	13	0	2	0	2	0	1	0	6	0	5	0	3	0	4	3	3	0	3	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr5:142526856G>A	ENST00000378004.3	+	20	2253	c.1898G>A	c.(1897-1899)aGc>aAc	p.S633N	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.S633N	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	633	Ser-rich.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AATCCAAACAGCATCCTTAAT	0.473													A	142526856	G	A	142526856	3	1	285	1	0	0	0	0	1	0	0	0	878	971	34	2	1976	2	ARHGAP26	5	142526856	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	64179556	142526856	38388404	27	19933											
CCHCR1	54535	broad.mit.edu	37	chr6	31125375	31125375	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagctgaatgtggccaCatgcagggctagaccctccc	8	6	11	16	0	0	2	0	1	0	1	1	2	1	2	5	2	2	3	5	2	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr6:31125375C>T	ENST00000396268.3	-	1	191	c.3G>A	c.(1-3)atG>atA	p.M1I	CCHCR1_ENST00000396263.2_Intron|CCHCR1_ENST00000376266.5_Intron|CCHCR1_ENST00000480060.1_Intron|CCHCR1_ENST00000451521.2_Start_Codon_SNP_p.M1I	NM_001105563.1|NM_001105564.1	NP_001099033.1|NP_001099034.1	Q8TD31	CCHCR_HUMAN	coiled-coil alpha-helical rod protein 1	0					cell differentiation|multicellular organismal development	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(13)|skin(1)	23						AATGTGGCCACATGCAGGGCT	0.587													T	31125375	C	T	31125375	1	4	285	1	0	0	0	0	0	0	0	0	2905	478	17	2		2	CCHCR1	6	31125375	Translation_Start_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08		31125375	139989692	28	19934											
DNAH11	8701	broad.mit.edu	37	chr7	21730409	21730409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcttggggaagctatcaCactgaagccatcagttggaa	12	11	10	8	0	3	1	2	1	1	0	3	3	3	3	1	3	2	2	1	3	4	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21730409C>T	ENST00000328843.6	+	36	6003	c.5972C>T	c.(5971-5973)aCa>aTa	p.T1991I	DNAH11_ENST00000409508.3_Missense_Mutation_p.T1984I			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1991	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCTATCACACTGAAGCCA	0.363									Kartagener syndrome				T	21730409	C	T	21730409	3	4	285	1	0	0	0	0	1	0	0	0	4638	478	17	2	6111	2	DNAH11	7	21730409	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		21730409	137408254	29	19935											
DNAH11	8701	broad.mit.edu	37	chr7	21742356	21742356	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgactggggacttcgtgctaTtaagtctgtcttggttgtgg	5	15	14	7	2	2	0	0	0	2	0	3	2	2	1	0	4	1	2	0	4	2	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:21742356T>C	ENST00000328843.6	+	38	6261	c.6230T>C	c.(6229-6231)aTt>aCt	p.I2077T	DNAH11_ENST00000409508.3_Missense_Mutation_p.I2070T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2077	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CTTCGTGCTATTAAGTCTGTC	0.388									Kartagener syndrome				C	21742356	T	C	21742356	3	2	285	1	0	0	0	0	1	0	0	0	4638	1493	52	3	6377	3	DNAH11	7	21742356	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08	11947	21742356	137396307	30	19936											
CUX1	1523	broad.mit.edu	37	chr7	101924100	101924100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctccctgtgcaggagcGgcagaggaagtacctgagct	8	7	14	12	1	0	2	0	1	0	1	2	4	2	4	3	3	4	4	3	3	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:101924100G>T	ENST00000437600.4	+	20	2115	c.1763G>T	c.(1762-1764)cGg>cTg	p.R588L	CUX1_ENST00000547394.2_Missense_Mutation_p.R574L|CUX1_ENST00000425244.2_Missense_Mutation_p.R544L|CUX1_ENST00000292538.4_Missense_Mutation_p.R590L|CUX1_ENST00000393824.3_Missense_Mutation_p.R551L|CUX1_ENST00000560541.1_3'UTR	NM_181500.2	NP_852477.1	P39880	CUX1_HUMAN	cut-like homeobox 1	177					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GTGCAGGAGCGGCAGAGGAAG	0.652													T	101924100	G	T	101924100	3	4	285	1	0	0	0	0	1	0	0	0	4097	1116	39	4	5217	4	CUX1	7	101924100	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	80181744	101924100	57214563	31	19937											
MGAM	8972	broad.mit.edu	37	chr7	141736692	141736692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcactaccttaacatcCgctatactctattgccctac	10	11	4	16	1	1	0	0	0	1	0	2	0	2	0	4	1	5	2	4	1	6	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr7:141736692C>T	ENST00000475668.2	+	18	2200	c.2146C>T	c.(2146-2148)Cgc>Tgc	p.R716C	MGAM_ENST00000549489.2_Missense_Mutation_p.R716C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	716	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTTAACATCCGCTATACTCT	0.532													T	141736692	C	T	141736692	3	4	285	1	0	0	0	0	1	0	0	0	9616	652	23	1	2212	1	MGAM	7	141736692	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	39812592	141736692	17401971	32	19938											
ADAM7	8756	broad.mit.edu	37	chr8	24350112	24350112	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttccctgtgaggagaagTaagtgccctgtggaaaaaaa	13	10	11	7	0	1	2	0	1	1	1	2	4	2	3	2	2	1	1	2	2	5	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350112T>A	ENST00000175238.6	+	15	1738		c.e15+2		RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Splice_Site|ADAM7_ENST00000380789.1_Splice_Site|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7						proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		TGAGGAGAAGTAAGTGCCCTG	0.373													A	24350112	T	A	24350112	5	1	285	1	0	0	0	0	0	0	1	0	251	1652	57	5	1715	5	ADAM7	8	24350112	Splice_Site	SNP	T	TCGA-CS-4941-01A-01D-1468-08		24350112	122013910	33	19939											
ADAM7	8756	broad.mit.edu	37	chr8	24350563	24350563	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttccttcagagatgtcAgatgtggaaagatctactgc	10	12	10	9	0	3	3	2	0	1	3	4	5	4	4	2	1	2	0	2	1	2	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:24350563A>T	ENST00000175238.6	+	16	1746	c.1663A>T	c.(1663-1665)Aga>Tga	p.R555*	RP11-624C23.1_ENST00000523578.1_RNA|RP11-561E1.1_ENST00000519364.1_RNA|ADAM7_ENST00000520720.1_Nonsense_Mutation_p.R327*|ADAM7_ENST00000380789.1_Nonsense_Mutation_p.R555*|RP11-624C23.1_ENST00000519689.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	555	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CAGAGATGTCAGATGTGGAAA	0.448													T	24350563	A	T	24350563	4	4	285	1	0	0	0	0	0	1	0	0	251	180	7	5	1725	5	ADAM7	8	24350563	Nonsense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	451	24350563	122013459	34	19940											
MTERFD1	51001	broad.mit.edu	37	chr8	97256197	97256197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctcatcacattgtgcaCaaaatcaaacgtctcggtaa	15	10	6	10	2	4	0	3	0	1	0	5	0	4	0	0	1	3	3	0	1	5	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:97256197C>T	ENST00000523821.1	-	7	1128	c.1009G>A	c.(1009-1011)Gtg>Atg	p.V337M	MTERFD1_ENST00000522822.1_Missense_Mutation_p.V216M|MTERFD1_ENST00000524341.1_Intron|MTERFD1_ENST00000287025.3_Missense_Mutation_p.V337M			Q96E29	MTER1_HUMAN	MTERF domain containing 1	337					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					ACATTGTGCACAAAATCAAAC	0.403													T	97256197	C	T	97256197	3	4	285	1	0	0	0	0	1	0	0	0	9995	478	17	2	252	2	MTERFD1	8	97256197	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	72905634	97256197	49107825	35	19941											
EFR3A	23167	broad.mit.edu	37	chr8	132971845	132971845	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgcaggcatttagatcatCacaaactgtgggatcccaat	12	12	8	9	0	2	1	2	0	0	1	3	2	3	2	1	2	2	2	1	2	3	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr8:132971845C>G	ENST00000254624.5	+	8	1015	c.790C>G	c.(790-792)Cac>Gac	p.H264D	EFR3A_ENST00000519656.1_Missense_Mutation_p.H228D|EFR3A_ENST00000334503.4_Missense_Mutation_p.H264D	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	264						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			TTTAGATCATCACAAACTGTG	0.284													G	132971845	C	G	132971845	3	3	285	1	0	0	0	0	1	0	0	0	4997	826	29	4	820	4	EFR3A	8	132971845	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	35715648	132971845	13392177	36	19942											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777565	18777565	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcttccgcagccaccTggagcaccaggacacgctcc	9	5	11	16	2	1	1	0	0	1	1	3	4	3	3	5	3	2	3	5	3	0	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:18777565T>A	ENST00000380548.4	+	19	3677	c.3338T>A	c.(3337-3339)cTg>cAg	p.L1113Q		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1113						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGCAGCCACCTGGAGCACCAG	0.647													A	18777565	T	A	18777565	3	1	285	1	0	0	0	0	1	0	0	0	274	1580	55	5	3416	5	ADAMTSL1	9	18777565	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		18777565	122435866	37	19943											
KIF24	347240	broad.mit.edu	37	chr9	34259658	34259658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttggtgagatgttggCgatcatgcaggttttggcat	6	14	16	5	1	1	1	1	1	0	1	1	3	1	1	0	5	1	5	0	5	0	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:34259658C>A	ENST00000379166.2	-	10	1680	c.1561G>T	c.(1561-1563)Gcc>Tcc	p.A521S	KIF24_ENST00000402558.2_Missense_Mutation_p.A521S|KIF24_ENST00000379174.3_Missense_Mutation_p.A387S|KIF24_ENST00000345050.2_Missense_Mutation_p.A387S	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	521					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			GAGATGTTGGCGATCATGCAG	0.493													A	34259658	C	A	34259658	3	1	285	1	0	0	0	0	1	0	0	0	8350	768	27	4	2561	4	KIF24	9	34259658	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15482093	34259658	106953773	38	19944											
ALDH1B1	219	broad.mit.edu	37	chr9	38396064	38396064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggggccggctgctgaacCgcctggcagacctagtggag	7	5	17	12	3	0	2	0	1	0	1	0	3	0	3	4	5	3	3	4	5	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:38396064C>T	ENST00000377698.3	+	2	472	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	107			L -> R (in allele ALDHA1B1*3; dbSNP:rs2073478).		carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GCTGCTGAACCGCCTGGCAGA	0.632													T	38396064	C	T	38396064	3	4	285	1	0	0	0	0	1	0	0	0	493	652	23	1	321	1	ALDH1B1	9	38396064	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	4136406	38396064	102817367	39	19945											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123152041	123152041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtttcctctggccttcCgaaggattttgtgggttacg	5	14	12	10	2	1	0	0	0	1	0	3	2	3	1	4	4	1	2	4	4	2	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:123152041C>T	ENST00000349780.4	-	37	5782	c.5603G>A	c.(5602-5604)cGg>cAg	p.R1868Q	CDK5RAP2_ENST00000480467.1_5'UTR|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.R1789Q|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.R1836Q|CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.R1827Q	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	1868	Interaction with PCNT and AKAP9.|Required for centrosomal attachment, Golgi localization and CALM1 interaction.				brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TCTGGCCTTCCGAAGGATTTT	0.517													T	123152041	C	T	123152041	3	4	285	1	0	0	0	0	1	0	0	0	3176	652	23	1	86	1	CDK5RAP2	9	123152041	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	84755977	123152041	18061390	40	19946											
PNPLA7	375775	broad.mit.edu	37	chr9	140409907	140409907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtttgcgaatggaaggCgcggggacggagtggctcct	7	9	17	8	4	1	0	0	0	1	0	2	4	2	3	1	6	1	2	1	6	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr9:140409907C>T	ENST00000406427.1	-	12	1485	c.1149G>A	c.(1147-1149)gcG>gcA	p.A383A	PNPLA7_ENST00000277531.4_Silent_p.A358A|PNPLA7_ENST00000371457.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	358					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GAATGGAAGGCGCGGGGACGG	0.657													T	140409907	C	T	140409907	2	4	285	1	0	0	0	0	0	0	0	1	12247	755	27	1		1	PNPLA7	9	140409907	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08	17257866	140409907	803524	41	19947											
CCKBR	887	broad.mit.edu	37	chr11	6292257	6292257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggggctgttcaccagaaCgggcgttgccggcctgagac	7	7	15	12	3	2	2	2	1	0	2	2	3	2	2	3	4	2	3	3	4	1	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6292257C>T	ENST00000525462.1	+	4	1038	c.1035C>T	c.(1033-1035)aaC>aaT	p.N345N	CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000532396.1_3'UTR|CCKBR_ENST00000334619.2_Silent_p.N276N			P32239	GASR_HUMAN	cholecystokinin B receptor	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCACCAGAACGGGCGTTGCC	0.662													T	6292257	C	T	6292257	2	4	285	1	0	0	0	0	0	0	0	1	2909	535	19	1		1	CCKBR	11	6292257	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		6292257	128714259	42	19948											
DNHD1	144132	broad.mit.edu	37	chr11	6588129	6588129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgagtgtatgcaggagcGgctgctgacgatgctgctgt	9	10	15	7	2	0	2	0	2	0	0	0	4	0	3	0	2	5	6	0	2	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588129G>A	ENST00000254579.6	+	36	11954	c.11390G>A	c.(11389-11391)cGg>cAg	p.R3797Q	DNHD1_ENST00000527990.2_Missense_Mutation_p.R3797Q	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3797					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGCAGGAGCGGCTGCTGACG	0.542													A	6588129	G	A	6588129	3	1	285	1	0	0	0	0	1	0	0	0	4707	1116	39	1	11533	1	DNHD1	11	6588129	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	295872	6588129	128418387	43	19949											
DNHD1	144132	broad.mit.edu	37	chr11	6588423	6588423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggacagcatgaagccacGtgagattaatcacggggagg	12	7	14	8	2	2	2	1	2	1	1	2	5	2	4	1	4	2	1	1	4	2	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6588423G>A	ENST00000254579.6	+	36	12248	c.11684G>A	c.(11683-11685)cGt>cAt	p.R3895H	DNHD1_ENST00000527990.2_Missense_Mutation_p.R3895H	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3895					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ATGAAGCCACGTGAGATTAAT	0.577													A	6588423	G	A	6588423	3	1	285	1	0	0	0	0	1	0	0	0	4707	1145	40	1	11827	1	DNHD1	11	6588423	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	294	6588423	128418093	44	19950											
OR10A5	144124	broad.mit.edu	37	chr11	6867517	6867517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgagatctacgccatcGtcggaaccattctggtggtc	7	13	11	10	3	2	1	0	1	2	1	5	3	2	2	2	3	2	1	2	3	2	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:6867517G>A	ENST00000299454.4	+	1	635	c.604G>A	c.(604-606)Gtc>Atc	p.V202I	OR10A5_ENST00000379831.2_Missense_Mutation_p.V206I			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V202L(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTACGCCATCGTCGGAACCAT	0.512													A	6867517	G	A	6867517	3	1	285	1	0	0	0	0	1	0	0	0	10969	1145	40	1	606	1	OR10A5	11	6867517	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	279094	6867517	128138999	45	19951											
CD82	3732	broad.mit.edu	37	chr11	44640201	44640201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccttgcagggctgcatggaGaaggtgcaggcgtggctgca	7	7	17	10	1	0	1	0	0	0	1	0	2	0	1	1	5	4	6	1	5	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:44640201G>A	ENST00000227155.4	+	9	902	c.654G>A	c.(652-654)gaG>gaA	p.E218E	CD82_ENST00000342935.3_Silent_p.E193E|CD82_ENST00000530931.1_3'UTR	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	218						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						GCTGCATGGAGAAGGTGCAGG	0.667													A	44640201	G	A	44640201	2	1	285	1	0	0	0	0	0	0	0	1	3070	933	33	2		2	CD82	11	44640201	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	37772684	44640201	90366315	46	19952											
EFEMP2	30008	broad.mit.edu	37	chr11	65638766	65638766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggggcaggcacaagtagcCcccgtagtggttgatgcact	8	7	15	11	2	0	1	0	1	0	0	0	1	0	1	2	4	2	6	2	4	3	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:65638766C>T	ENST00000307998.6	-	4	459	c.229G>A	c.(229-231)Ggc>Agc	p.G77S	EFEMP2_ENST00000528176.1_Missense_Mutation_p.G77S	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	77	EGF-like 1; atypical.				blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		CACAAGTAGCCCCCGTAGTGG	0.647													T	65638766	C	T	65638766	3	4	285	1	0	0	0	0	1	0	0	0	4981	623	22	2	1134	2	EFEMP2	11	65638766	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	20998565	65638766	69367750	47	19953											
CCDC84	338657	broad.mit.edu	37	chr11	118885707	118885707	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttaatttttttttcaggtgCcacacctccctggatgatcc	7	16	6	12	0	1	1	1	1	0	0	3	2	3	2	4	2	1	0	4	2	1	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:118885707C>G	ENST00000334418.1	+	9	775	c.719C>G	c.(718-720)gCc>gGc	p.A240G		NM_198489.1	NP_940891.1	Q86UT8	CCD84_HUMAN	coiled-coil domain containing 84	240										breast(1)|kidney(1)|large_intestine(1)|liver(1)|ovary(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.72e-05)		TTTTCAGGTGCCACACCTCCC	0.353													G	118885707	C	G	118885707	3	3	285	1	0	0	0	0	1	0	0	0	2886	739	26	4	753	4	CCDC84	11	118885707	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	53246941	118885707	16120809	48	19954											
ACAD8	27034	broad.mit.edu	37	chr11	134130962	134130962	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaactcccagccaacaCgagctgtgatcttcgaagac	11	7	11	12	2	1	2	0	1	1	1	3	5	2	3	2	2	4	1	2	2	3	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr11:134130962C>G	ENST00000281182.4	+	7	836	c.730C>G	c.(730-732)Cga>Gga	p.R244G	ACAD8_ENST00000543332.1_Missense_Mutation_p.R146G|ACAD8_ENST00000374752.4_Missense_Mutation_p.R117G|ACAD8_ENST00000524547.1_3'UTR|ACAD8_ENST00000537423.1_Missense_Mutation_p.R167G	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	244					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding	p.R244*(1)		endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		CCAGCCAACACGAGCTGTGAT	0.612													G	134130962	C	G	134130962	3	3	285	1	0	0	0	0	1	0	0	0	110	528	19	4	756	4	ACAD8	11	134130962	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	15245255	134130962	875554	49	19955											
KRT75	9119	broad.mit.edu	37	chr12	52824475	52824475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtcaccgacctgggtctgCaactgggacagctcctgcag	7	8	13	13	1	2	0	1	0	1	0	3	2	3	1	3	2	4	3	3	2	1	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr12:52824475C>A	ENST00000252245.5	-	5	1105	c.885G>T	c.(883-885)ttG>ttT	p.L295F		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	295	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		CCTGGGTCTGCAACTGGGACA	0.507													A	52824475	C	A	52824475	3	1	285	1	0	0	0	0	1	0	0	0	8546	709	25	4	790	4	KRT75	12	52824475	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		52824475	81027420	50	19956											
FNDC3A	22862	broad.mit.edu	37	chr13	49772709	49772709	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggaggataagaatggaCggtaggtttttttaattgct	12	14	13	2	1	0	2	0	0	0	2	0	5	0	5	0	5	1	3	0	5	4	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr13:49772709C>A	ENST00000492622.2	+	23	3291	c.2986C>A	c.(2986-2988)Cgg>Agg	p.R996R	FNDC3A_ENST00000398316.3_Splice_Site_p.R940R|FNDC3A_ENST00000541916.1_Splice_Site_p.R996R	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	996	Fibronectin type-III 8.					Golgi membrane|integral to membrane		p.R996W(1)		endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TAAGAATGGACGGTAGGTTTT	0.398													A	49772709	C	A	49772709	5	1	285	1	0	0	0	0	0	0	1	0	6018	550	19	4	3083	4	FNDC3A	13	49772709	Splice_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08		49772709	65397169	51	19957											
TPP2	7174	broad.mit.edu	37	chr13	103299660	103299660	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttttgaccagaacaaaaGacagatgggttcaggcgatg	14	10	11	6	1	1	4	1	1	0	3	1	5	1	4	1	2	1	1	1	2	4	4	rs142623109		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr13:103299660G>C	ENST00000376052.3	+	21	2610	c.2594G>C	c.(2593-2595)aGa>aCa	p.R865T	TPP2_ENST00000376065.4_Missense_Mutation_p.R865T			P29144	TPP2_HUMAN	tripeptidyl peptidase II	865					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					CAGAACAAAAGACAGATGGGT	0.388													C	103299660	G	C	103299660	3	2	285	1	0	0	0	0	1	0	0	0	16513	942	33	4	2676	4	TPP2	13	103299660	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	53526951	103299660	11870218	52	19958											
PLA2G4F	255189	broad.mit.edu	37	chr15	42434838	42434838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacgggcctcctccatGtcctcagggcccacctcgat	6	8	8	19	2	2	0	2	0	0	0	6	1	5	0	6	2	0	0	6	2	0	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr15:42434838G>A	ENST00000397272.3	-	19	2314	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	PLA2G4F_ENST00000382396.4_Silent_p.D739D	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	739	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCCTCCATGTCCTCAGGGC	0.592													A	42434838	G	A	42434838	2	1	285	1	0	0	0	0	0	0	0	1	12083	1368	48	2		2	PLA2G4F	15	42434838	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08		42434838	60096554	53	19959											
PKD1	5310	broad.mit.edu	37	chr16	2164291	2164291	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgctgttttccaccacCacgtccaccacgtgctcccc	5	9	7	20	3	0	0	0	0	0	0	3	0	3	0	7	1	1	3	7	1	0	2	rs4018173		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:2164291C>A	ENST00000262304.4	-	11	2941	c.2733G>T	c.(2731-2733)gtG>gtT	p.V911V	PKD1_ENST00000423118.1_Silent_p.V911V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	911	PKD 3.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTTCCACCACCACGTCCACCA	0.697													A	2164291	C	A	2164291	2	1	285	1	0	0	0	0	0	0	0	1	12040	581	21	4		4	PKD1	16	2164291	Silent	SNP	C	TCGA-CS-4941-01A-01D-1468-08		2164291	88190462	54	19960											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53679916	53679916	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtgcttgctgacttaaCtggaaaaacatacatattta	13	14	8	6	0	0	1	0	1	0	0	0	2	0	2	0	2	5	2	0	2	6	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr16:53679916C>T	ENST00000262135.4	-	17	2398		c.e17-1		RPGRIP1L_ENST00000564374.1_Splice_Site|RPGRIP1L_ENST00000563746.1_Splice_Site|RPGRIP1L_ENST00000379925.3_Splice_Site	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like						negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				GCTGACTTAACTGGAAAAACA	0.358													T	53679916	C	T	53679916	5	4	285	1	0	0	0	0	0	0	1	0	13641	579	20	2	1687	2	RPGRIP1L	16	53679916	Splice_Site	SNP	C	TCGA-CS-4941-01A-01D-1468-08	51515625	53679916	36674837	55	19961											
POLR2A	5430	broad.mit.edu	37	chr17	7414879	7414879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaccccgtacgcaccaCgtccaatgacattgtggaga	10	7	11	13	4	0	2	0	1	0	1	1	4	1	3	4	2	1	2	4	2	2	2			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:7414879C>T	ENST00000322644.6	+	24	4472	c.4073C>T	c.(4072-4074)aCg>aTg	p.T1358M		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1358					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GTACGCACCACGTCCAATGAC	0.597													T	7414879	C	T	7414879	3	4	285	1	0	0	0	0	1	0	0	0	12291	536	19	1	4167	1	POLR2A	17	7414879	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		7414879	73780331	56	19962											
MYH4	4622	broad.mit.edu	37	chr17	10368890	10368890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccacttgtaggggttgacgGtgacacagaagaggcccgag	10	6	16	9	2	0	4	0	2	0	2	0	5	0	4	2	4	0	2	2	4	2	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:10368890G>C	ENST00000255381.2	-	5	484	c.374C>G	c.(373-375)aCc>aGc	p.T125S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	125	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGGGTTGACGGTGACACAGAA	0.542													C	10368890	G	C	10368890	3	2	285	1	0	0	0	0	1	0	0	0	10113	1261	44	4	5589	4	MYH4	17	10368890	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	2954011	10368890	70826320	57	19963											
PGAP3	93210	broad.mit.edu	37	chr17	37844245	37844245	+	Frame_Shift_Del	DEL	A	A	-																															ctgccccagctagcaggaccAaccgcgccgccaggccggcc																										TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:37844245delA	ENST00000300658.4	-	1	115	c.23delT	c.(22-24)ttgfs	p.L8fs	PGAP3_ENST00000378011.4_Frame_Shift_Del_p.L8fs|PGAP3_ENST00000429199.2_Frame_Shift_Del_p.L8fs|PGAP3_ENST00000579146.1_Frame_Shift_Del_p.L8fs|ERBB2_ENST00000584601.1_5'UTR	NM_033419.3	NP_219487.3	Q96FM1	PGAP3_HUMAN	post-GPI attachment to proteins 3	8					GPI anchor biosynthetic process	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	hydrolase activity, acting on ester bonds			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12						TAGCAGGACCAACCGCGCCGC	0.672													-	37844245	A	-	37844245	7	5	285	1	0	1	0	1	0	0	0	0	11856	131	5	0	971	0	PGAP3	17	37844245	Frame_Shift_Del	DEL	A	TCGA-CS-4941-01A-01D-1468-08	27475355	37844245	43350965	58	19964											
KRT222	125113	broad.mit.edu	37	chr17	38812821	38812821	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagactttttcctcaatcGagggttatctttaaagaaag	14	13	7	7	1	2	2	1	0	1	2	4	3	3	2	1	1	1	1	1	1	6	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr17:38812821G>A	ENST00000476049.1	-	6	762	c.721C>T	c.(721-723)Cga>Tga	p.R241*	KRT222_ENST00000394052.3_Nonsense_Mutation_p.R241*			Q8N1A0	KT222_HUMAN	keratin 222	241						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						TTCCTCAATCGAGGGTTATCT	0.338													A	38812821	G	A	38812821	4	1	285	1	0	0	0	0	0	1	0	0	8517	1066	37	1	170	1	KRT222	17	38812821	Nonsense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	968576	38812821	42382389	59	19965											
SERPINB7	8710	broad.mit.edu	37	chr18	61449736	61449736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgccctggccctggtccgcTtgggcgctcaagatgactcc	4	9	12	16	2	1	2	1	1	0	1	3	2	3	2	4	3	1	2	4	3	1	1			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr18:61449736T>A	ENST00000398019.2	+	2	455	c.130T>A	c.(130-132)Ttg>Atg	p.L44M	SERPINB7_ENST00000336429.2_Missense_Mutation_p.L44M|SERPINB7_ENST00000546027.1_Missense_Mutation_p.L44M|SERPINB7_ENST00000540675.1_Missense_Mutation_p.L44M	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	44					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				CCTGGTCCGCTTGGGCGCTCA	0.473													A	61449736	T	A	61449736	3	1	285	1	0	0	0	0	1	0	0	0	14199	1606	56	5	132	5	SERPINB7	18	61449736	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		61449736	16627512	60	19966											
ZNF675	171392	broad.mit.edu	37	chr19	23836144	23836144	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttatagggtttctctccagTatgaattatcttatgttcag	9	19	7	6	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	6	8			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:23836144T>A	ENST00000359788.4	-	4	1759	c.1591A>T	c.(1591-1593)Act>Tct	p.T531S	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	531					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				TTCTCTCCAGTATGAATTATC	0.343													A	23836144	T	A	23836144	3	1	285	1	0	0	0	0	1	0	0	0	18183	1638	57	5	119	5	ZNF675	19	23836144	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		23836144	35292839	61	19967											
ZNF536	9745	broad.mit.edu	37	chr19	31038959	31038959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcagaacggggctgggccGctgtctgggcaacccccaaa	8	4	15	14	3	1	1	0	0	1	1	1	1	1	1	3	5	2	4	3	5	3	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:31038959G>A	ENST00000355537.3	+	4	2580	c.2433G>A	c.(2431-2433)ccG>ccA	p.P811P		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	811					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGGCTGGGCCGCTGTCTGGGC	0.567													A	31038959	G	A	31038959	2	1	285	1	0	0	0	0	0	0	0	1	18075	1074	38	1		1	ZNF536	19	31038959	Silent	SNP	G	TCGA-CS-4941-01A-01D-1468-08	7202815	31038959	28090024	62	19968											
KIAA0355	9710	broad.mit.edu	37	chr19	34832986	34832986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctctgacaccccagccggGactggcacctcagcagcagt	9	5	10	17	1	2	1	1	1	1	0	2	2	2	2	5	2	3	3	5	2	0	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:34832986G>A	ENST00000299505.6	+	10	3020	c.2147G>A	c.(2146-2148)gGa>gAa	p.G716E		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	716										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					CCCCAGCCGGGACTGGCACCT	0.647													A	34832986	G	A	34832986	3	1	285	1	0	0	0	0	1	0	0	0	8228	1174	41	2	2181	2	KIAA0355	19	34832986	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	3794027	34832986	24295997	63	19969											
TNNT1	7138	broad.mit.edu	37	chr19	55649402	55649402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcatcatcctctgccCgcttcttggcctcttcctct	2	16	6	17	1	6	0	1	0	5	0	8	0	8	0	4	2	1	2	4	2	0	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr19:55649402C>T	ENST00000588981.1	-	10	632	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TNNT1_ENST00000291901.8_Missense_Mutation_p.R143Q|TNNT1_ENST00000592920.1_5'UTR|TNNT1_ENST00000587758.1_Missense_Mutation_p.R132Q|TNNT1_ENST00000356783.5_Missense_Mutation_p.R132Q|TNNT1_ENST00000587465.2_Missense_Mutation_p.R73Q|TNNT1_ENST00000536926.1_Missense_Mutation_p.R132Q|TNNT1_ENST00000585321.2_Missense_Mutation_p.R73Q|TNNT1_ENST00000588426.1_Missense_Mutation_p.R40Q	NM_003283.4	NP_003274.3	P13805	TNNT1_HUMAN	troponin T type 1 (skeletal, slow)	143					muscle filament sliding|negative regulation of muscle contraction	cytosol|troponin complex	tropomyosin binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)	10			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.047)		ATCCTCTGCCCGCTTCTTGGC	0.572													T	55649402	C	T	55649402	3	4	285	1	0	0	0	0	1	0	0	0	16430	652	23	1	428	1	TNNT1	19	55649402	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	20816416	55649402	3479581	64	19970											
PLCG1	5335	broad.mit.edu	37	chr20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcgcttcgtggtgtatGaggaagacatgtttagtgac	8	14	13	6	2	1	3	0	2	1	1	2	4	1	4	0	2	1	3	0	2	3	5			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr20:39802384G>A	ENST00000373272.2	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1163K|PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39802384	G	A	39802384	3	1	285	1	0	0	0	0	1	0	0	0	12112	1291	45	2	3601	2	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08		39802384	23223136	65	19971											
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119504	32119504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcccccacagcagtttctgTagtagttgcaacacatgatt	11	11	8	11	0	1	1	0	1	1	0	1	1	1	1	2	0	4	6	2	0	3	5	rs145167151		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:32119504T>C	ENST00000333892.2	-	1	47	c.17A>G	c.(16-18)tAc>tGc	p.Y6C		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	6						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						GCAGTTTCTGTAGTAGTTGCA	0.468													C	32119504	T	C	32119504	3	2	285	1	0	0	0	0	1	0	0	0	8597	1638	57	3	236	3	KRTAP21-2	21	32119504	Missense_Mutation	SNP	T	TCGA-CS-4941-01A-01D-1468-08		32119504	16010391	66	19972											
ABCG1	9619	broad.mit.edu	37	chr21	43708163	43708163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtaaagcagacaaaaCgattaaaggggttgagaaag	20	5	13	3	1	0	3	0	1	0	3	0	5	0	3	0	3	2	3	0	3	8	3			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chr21:43708163C>T	ENST00000398437.1	+	10	1724	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	ABCG1_ENST00000398449.3_Intron|ABCG1_ENST00000462050.1_Intron|ABCG1_ENST00000398457.2_Intron|ABCG1_ENST00000347800.2_Intron|ABCG1_ENST00000361802.2_Nonsense_Mutation_p.R380*|ABCG1_ENST00000343687.3_Intron|ABCG1_ENST00000340588.4_Nonsense_Mutation_p.R488*			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	380	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	GCAGACAAAACGATTAAAGGG	0.562													T	43708163	C	T	43708163	4	4	285	1	0	0	0	0	0	1	0	0	68	528	19	1	1340	1	ABCG1	21	43708163	Nonsense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	11588659	43708163	4421732	67	19973											
DDX3X	1654	broad.mit.edu	37	chrX	41204458	41204458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgttagatgaagctgatCggatgttggatatggggttt	8	15	16	2	1	0	3	0	2	0	1	1	5	0	5	0	5	1	4	0	5	3	4			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:41204458C>T	ENST00000399959.2	+	11	1906	c.1051C>T	c.(1051-1053)Cgg>Tgg	p.R351W	DDX3X_ENST00000542215.1_3'UTR|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron|DDX3X_ENST00000457138.2_Missense_Mutation_p.R335W	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	351	Helicase ATP-binding.|Necessary for interaction with XPO1.				interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						TGAAGCTGATCGGATGTTGGA	0.408										HNSCC(61;0.18)			T	41204458	C	T	41204458	3	4	285	1	0	0	0	0	1	0	0	0	4392	875	31	1	1093	1	DDX3X	23	41204458	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08		41204458	114066102	68	19974											
RGAG1	57529	broad.mit.edu	37	chrX	109695334	109695334	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccacagcctctggaaagAtgtccacgccactgaggaga	12	5	12	12	1	1	3	0	1	1	2	2	6	2	4	4	2	2	0	4	2	1	0			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:109695334A>T	ENST00000465301.2	+	3	1735	c.1489A>T	c.(1489-1491)Atg>Ttg	p.M497L	RGAG1_ENST00000540313.1_Missense_Mutation_p.M497L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	497										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CTCTGGAAAGATGTCCACGCC	0.507													T	109695334	A	T	109695334	3	4	285	1	0	0	0	0	1	0	0	0	13362	333	12	5	1491	5	RGAG1	23	109695334	Missense_Mutation	SNP	A	TCGA-CS-4941-01A-01D-1468-08	68490876	109695334	45575226	69	19975											
AGTR2	186	broad.mit.edu	37	chrX	115303726	115303726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctggtcaatattgtcGtggttacactgttttgttgt	6	20	10	5	1	2	0	1	0	1	0	3	1	2	0	0	2	1	3	0	2	3	7			TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:115303726G>A	ENST00000371906.4	+	3	383	c.193G>A	c.(193-195)Gtg>Atg	p.V65M		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	65					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						CAATATTGTCGTGGTTACACT	0.363													A	115303726	G	A	115303726	3	1	285	1	0	0	0	0	1	0	0	0	402	1145	40	1	195	1	AGTR2	23	115303726	Missense_Mutation	SNP	G	TCGA-CS-4941-01A-01D-1468-08	5608392	115303726	39966834	70	19976											
SMARCA1	6594	broad.mit.edu	37	chrX	128632026	128632026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agagtttaaaacatcaatatCtttcatcaggatttttgtat	14	17	5	5	0	4	1	3	0	1	1	4	2	4	2	0	1	1	2	0	1	5	7	rs35325660		TCGA-CS-4941-01A-01D-1468-08	TCGA-CS-4941-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	003ed478-ceca-4752-8ae4-4cf12e6844bd	56e3b45b-55fa-4b7e-8998-920c8125aab1	g.chrX:128632026C>G	ENST00000371122.4	-	11	1429	c.1300G>C	c.(1300-1302)Gat>Cat	p.D434H	SMARCA1_ENST00000371121.3_Missense_Mutation_p.D434H|SMARCA1_ENST00000371123.1_Missense_Mutation_p.D434H	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	434					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						ACATCAATATCTTTCATCAGG	0.308													G	128632026	C	G	128632026	3	3	285	1	0	0	0	0	1	0	0	0	14862	913	32	4	1920	4	SMARCA1	23	128632026	Missense_Mutation	SNP	C	TCGA-CS-4941-01A-01D-1468-08	13328300	128632026	26638534	71	19977											
STIL	6491	broad.mit.edu	37	chr1	47728685	47728685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgttactggcaccccCtgttggtccagtctgtaaac	9	12	9	11	0	1	1	0	0	1	1	2	1	2	1	3	2	2	4	3	2	4	4			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:47728685C>A	ENST00000360380.3	-	16	3079	c.2716G>T	c.(2716-2718)Ggg>Tgg	p.G906W	STIL_ENST00000243182.6_Missense_Mutation_p.G906W|STIL_ENST00000337817.5_Missense_Mutation_p.G906W|STIL_ENST00000371877.3_Missense_Mutation_p.G907W|STIL_ENST00000396221.2_Missense_Mutation_p.G889W	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	906					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CTGGCACCCCCTGTTGGTCCA	0.428													A	47728685	C	A	47728685	3	1	286	1	0	0	0	0	1	0	0	0	15378	681	24	4	1159	4	STIL	1	47728685	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		47728685	201521936	1	19978											
CCDC18	343099	broad.mit.edu	37	chr1	93646284	93646284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacggctcccgcggcggtTcgaattctgtgctgccgggg	4	8	15	14	6	1	0	0	0	1	0	3	1	2	0	3	5	3	3	3	5	2	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:93646284T>C	ENST00000557479.1	+	1	365	c.197T>C	c.(196-198)tTc>tCc	p.F66S	TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000334652.5_5'UTR|CCDC18_ENST00000343253.7_Intron|CCDC18_ENST00000338949.4_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		CCGCGGCGGTTCGAATTCTGT	0.706													C	93646284	T	C	93646284	3	2	286	1	0	0	0	0	1	0	0	0	2821	1783	62	3	199	3	CCDC18	1	93646284	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	45917599	93646284	155604337	2	19979											
LRRC52	440699	broad.mit.edu	37	chr1	165513828	165513828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatggattataccttcatcGgggtcttcaaactcatctac	10	14	7	10	1	5	1	3	1	2	0	6	2	5	2	1	3	3	0	1	3	4	5			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:165513828G>T	ENST00000294818.1	+	1	585	c.295G>T	c.(295-297)Ggg>Tgg	p.G99W	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	99						integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					TACCTTCATCGGGGTCTTCAA	0.483													T	165513828	G	T	165513828	3	4	286	1	0	0	0	0	1	0	0	0	9080	1116	39	4	297	4	LRRC52	1	165513828	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	71867544	165513828	83736793	3	19980											
ASPM	259266	broad.mit.edu	37	chr1	197072215	197072215	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttttggttttgtaagCtctgtatttagactgtatag	7	22	8	4	0	2	1	0	0	2	1	2	1	2	1	0	1	1	5	0	1	5	11			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:197072215C>G	ENST00000367409.4	-	18	6422	c.6166G>C	c.(6166-6168)Gct>Cct	p.A2056P	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2056	IQ 15.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GTTTTGTAAGCTCTGTATTTA	0.343													G	197072215	C	G	197072215	3	3	286	1	0	0	0	0	1	0	0	0	1061	797	28	4	4311	4	ASPM	1	197072215	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	31558387	197072215	52178406	4	19981											
CENPF	1063	broad.mit.edu	37	chr1	214832292	214832292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggctgcacagaagttagCgctatccccactgagtctcg	8	9	10	14	2	1	2	0	1	1	1	3	2	2	2	3	1	2	4	3	1	3	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:214832292C>T	ENST00000366955.3	+	19	9230	c.9062C>T	c.(9061-9063)gCg>gTg	p.A3021V		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	3117	Sufficient for centromere localization.|Sufficient for nuclear localization.				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		CAGAAGTTAGCGCTATCCCCA	0.527											OREG0014250	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	214832292	C	T	214832292	3	4	286	1	0	0	0	0	1	0	0	0	3261	768	27	1	9132	1	CENPF	1	214832292	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	17760077	214832292	34418329	5	19982											
CEP170	9859	broad.mit.edu	37	chr1	243328278	243328278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaacccacatctgtggaaCgactttttgttttcttttcc	7	18	6	10	1	2	1	0	1	2	0	3	3	3	2	2	1	2	1	2	1	2	7			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:243328278C>T	ENST00000366542.1	-	13	3035	c.2984G>A	c.(2983-2985)cGt>cAt	p.R995H	RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.R897H|CEP170_ENST00000366543.1_Missense_Mutation_p.R897H|RP11-261C10.4_ENST00000422938.1_RNA	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	995	Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCTGTGGAACGACTTTTTGT	0.408													T	243328278	C	T	243328278	3	4	286	1	0	0	0	0	1	0	0	0	3280	536	19	1	1832	1	CEP170	1	243328278	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	28495986	243328278	5922343	6	19983											
OR6F1	343169	broad.mit.edu	37	chr1	247875530	247875530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaatgtcacagaagaaGtggttgatggcacgggggcc	10	7	17	7	1	1	3	1	1	0	2	1	3	1	3	1	5	1	3	1	5	3	1	rs144069302		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:247875530G>T	ENST00000302084.2	-	1	575	c.528C>A	c.(526-528)caC>caA	p.H176Q	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CACAGAAGAAGTGGTTGATGG	0.577													T	247875530	G	T	247875530	3	4	286	1	0	0	0	0	1	0	0	0	11277	1020	36	4	402	4	OR6F1	1	247875530	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	4547252	247875530	1375091	7	19984											
OR2W3	343171	broad.mit.edu	37	chr1	248058977	248058977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggatcctctttgtggTcatcctgatcgcgtacctcc	6	12	11	12	2	2	2	1	1	1	1	6	4	5	3	4	3	1	1	4	3	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr1:248058977T>C	ENST00000537741.1	+	3	346	c.89T>C	c.(88-90)gTc>gCc	p.V30A	OR2W3_ENST00000360358.3_Missense_Mutation_p.V30A			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTTTGTGGTCATCCTGATC	0.567													C	248058977	T	C	248058977	3	2	286	1	0	0	0	0	1	0	0	0	11109	1667	58	3	91	3	OR2W3	1	248058977	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	183447	248058977	1191644	8	19985											
KRTCAP3	200634	broad.mit.edu	37	chr2	27665528	27665528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacctgctgctgggggcCgtgctgcatggcaccgtcct	4	9	15	13	2	0	1	0	1	0	0	1	1	1	1	4	3	5	5	4	3	1	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:27665528C>T	ENST00000543753.1	+	2	158	c.111C>T	c.(109-111)gcC>gcT	p.A37A	KRTCAP3_ENST00000407293.1_Silent_p.A19A|KRTCAP3_ENST00000288873.3_Silent_p.A37A	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	37						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					TGCTGGGGGCCGTGCTGCATG	0.706													T	27665528	C	T	27665528	2	4	286	1	0	0	0	0	0	0	0	1	8638	639	23	1		1	KRTCAP3	2	27665528	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		27665528	215533845	9	19986											
POLR1A	25885	broad.mit.edu	37	chr2	86316951	86316951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttaactcacatgtgcGccctgggaccccaggaggtt	8	9	12	12	1	1	0	1	0	0	0	1	2	1	2	3	3	2	2	3	3	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:86316951G>A	ENST00000263857.6	-	4	912	c.534C>T	c.(532-534)ggC>ggT	p.G178G	POLR1A_ENST00000409681.1_Silent_p.G178G			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	178					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TCACATGTGCGCCCTGGGACC	0.458													A	86316951	G	A	86316951	2	1	286	1	0	0	0	0	0	0	0	1	12286	1074	38	1		1	POLR1A	2	86316951	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08	58651423	86316951	156882422	10	19987											
SLC9A4	389015	broad.mit.edu	37	chr2	103149082	103149082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggttcggtcgaggtggAcagctgaccatggacacggc	8	8	16	9	3	0	2	0	2	0	0	2	5	0	4	1	6	1	2	1	6	0	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:103149082A>G	ENST00000295269.4	+	12	2789	c.2332A>G	c.(2332-2334)Aca>Gca	p.T778A		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	778					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GTCGAGGTGGACAGCTGACCA	0.502													G	103149082	A	G	103149082	3	3	286	1	0	0	0	0	1	0	0	0	14810	275	10	3	2378	3	SLC9A4	2	103149082	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	16832131	103149082	140050291	11	19988											
RGPD4	285190	broad.mit.edu	37	chr2	108496508	108496508	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaagtgcagatcacttaaAcggcctgcttcgggaagcag	14	7	11	9	2	1	1	1	0	0	1	2	2	1	2	1	2	4	3	1	2	5	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:108496508A>T	ENST00000408999.3	+	21	5086	c.5009A>T	c.(5008-5010)aAc>aTc	p.N1670I	RGPD4_ENST00000354986.4_Missense_Mutation_p.N1670I	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1670					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATCACTTAAACGGCCTGCTT	0.453													T	108496508	A	T	108496508	3	4	286	1	0	0	0	0	1	0	0	0	13376	43	2	5	5091	5	RGPD4	2	108496508	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	5347426	108496508	134702865	12	19989											
ACTR3	10096	broad.mit.edu	37	chr2	114699855	114699855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attaaacagtatactggaatCaatgctatctcaaagaaaga	19	10	6	6	0	2	2	2	0	1	2	3	3	2	3	0	1	3	2	0	1	9	4			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:114699855C>T	ENST00000263238.2	+	8	1097	c.777C>T	c.(775-777)atC>atT	p.I259I	ACTR3_ENST00000535589.2_Silent_p.I208I|ACTR3_ENST00000536059.1_Silent_p.I197I	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	259					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						ATACTGGAATCAATGCTATCT	0.328													T	114699855	C	T	114699855	2	4	286	1	0	0	0	0	0	0	0	1	212	816	29	2		2	ACTR3	2	114699855	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08	6203347	114699855	128499518	13	19990											
PRKRA	8575	broad.mit.edu	37	chr2	179314991	179314991	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggttatgtcaccaacGgttactctgaaggtgaaagt	11	11	12	7	1	2	2	1	2	1	0	2	2	2	2	1	3	3	3	1	3	5	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:179314991G>T	ENST00000325748.4	-	2	413	c.213C>A	c.(211-213)acC>acA	p.T71T	PRKRA_ENST00000470200.1_5'UTR|PRKRA_ENST00000432031.2_Silent_p.T60T|PRKRA_ENST00000487082.1_Silent_p.T46T|PRKRA_ENST00000438687.3_5'UTR	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	71	DRBM 1.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGTCACCAACGGTTACTCTGA	0.438													T	179314991	G	T	179314991	2	4	286	1	0	0	0	0	0	0	0	1	12610	1103	39	4		4	PRKRA	2	179314991	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08	64615136	179314991	63884382	14	19991											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	286	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	29798121	209113112	34086261	15	19992											
LAMB2	3913	broad.mit.edu	37	chr3	49159715	49159715	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctgcaatcgcacccgccagGtgctggatctgctcagctga	7	9	11	14	2	3	1	1	1	2	0	4	2	3	2	2	2	4	5	2	2	1	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:49159715G>A	ENST00000418109.1	-	29	4826	c.4662C>T	c.(4660-4662)caC>caT	p.H1554H	LAMB2_ENST00000305544.4_Silent_p.H1554H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1554	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CACCCGCCAGGTGCTGGATCT	0.597													A	49159715	G	A	49159715	2	1	286	1	0	0	0	0	0	0	0	1	8670	1252	44	2		2	LAMB2	3	49159715	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08		49159715	148862715	16	19993											
POC1A	25886	broad.mit.edu	37	chr3	52159164	52159164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagaagcaaaatactcccCcgttcttgaaaaggcaacag	15	7	7	12	1	1	2	0	1	1	1	3	2	3	2	3	1	3	3	3	1	7	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:52159164C>T	ENST00000394970.2	-	8	1164	c.847G>A	c.(847-849)Ggg>Agg	p.G283R	POC1A_ENST00000474012.1_Missense_Mutation_p.G245R|POC1A_ENST00000296484.2_Missense_Mutation_p.G283R	NM_001161580.1	NP_001155052.1	Q8NBT0	POC1A_HUMAN	POC1 centriolar protein A	283						centriole|microtubule basal body				endometrium(1)|large_intestine(4)|liver(1)|lung(4)|prostate(3)|skin(1)	14						AAATACTCCCCCGTTCTTGAA	0.433													T	52159164	C	T	52159164	3	4	286	1	0	0	0	0	1	0	0	0	12252	623	22	2	392	2	POC1A	3	52159164	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	2999449	52159164	145863266	17	19994											
GOLGB1	2804	broad.mit.edu	37	chr3	121415996	121415996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattaacttctggataattGcttggttttcactgatttct	8	20	7	6	0	3	2	1	2	2	0	3	3	3	3	0	2	2	2	0	2	2	8			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr3:121415996G>T	ENST00000393667.3	-	13	3484	c.3374C>A	c.(3373-3375)gCa>gAa	p.A1125E	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A1120E	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1120					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		CTGGATAATTGCTTGGTTTTC	0.418													T	121415996	G	T	121415996	3	4	286	1	0	0	0	0	1	0	0	0	6618	1319	46	4	6460	4	GOLGB1	3	121415996	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	69256832	121415996	76606434	18	19995											
TBC1D9	23158	broad.mit.edu	37	chr4	141578954	141578954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcaaagacaccttggTccaccagtgcacctgtggca	9	8	9	15	0	1	1	1	0	0	1	3	1	3	1	5	2	1	3	5	2	1	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:141578954T>C	ENST00000442267.2	-	12	2008	c.1934A>G	c.(1933-1935)gAc>gGc	p.D645G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	645	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				GACACCTTGGTCCACCAGTGC	0.502													C	141578954	T	C	141578954	3	2	286	1	0	0	0	0	1	0	0	0	15727	1667	58	3	1906	3	TBC1D9	4	141578954	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08		141578954	49575322	19	19996											
GLRB	2743	broad.mit.edu	37	chr4	158065079	158065079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctttccttctggatcaAcccggacgcgagtgctgcca	6	10	11	14	3	2	0	1	0	1	0	3	3	3	2	3	3	3	2	3	3	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr4:158065079A>G	ENST00000264428.4	+	8	1142	c.872A>G	c.(871-873)aAc>aGc	p.N291S	GLRB_ENST00000541722.1_Missense_Mutation_p.N291S|GLRB_ENST00000509282.1_Missense_Mutation_p.N291S|GLRB_ENST00000512619.1_Intron	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	291					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTCTGGATCAACCCGGACGCG	0.488													G	158065079	A	G	158065079	3	3	286	1	0	0	0	0	1	0	0	0	6514	43	2	3	898	3	GLRB	4	158065079	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	16486125	158065079	33089197	20	19997											
CDC20B	166979	broad.mit.edu	37	chr5	54436230	54436230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttacaaagagttgttttagGcatttctgaaaataaacaca	16	13	7	5	0	1	2	0	1	1	1	1	2	1	2	0	1	2	4	0	1	7	6			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:54436230G>A	ENST00000334206.5	-	5	668	c.492C>T	c.(490-492)tgC>tgT	p.C164C	CDC20B_ENST00000381375.2_Silent_p.C164C|CDC20B_ENST00000296733.1_Silent_p.C164C|CDC20B_ENST00000331730.3_Silent_p.C143C|CDC20B_ENST00000322374.6_Silent_p.C164C			Q86Y33	CD20B_HUMAN	cell division cycle 20B	164										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			GTTGTTTTAGGCATTTCTGAA	0.333													A	54436230	G	A	54436230	2	1	286	1	0	0	0	0	0	0	0	1	3090	1195	42	2		2	CDC20B	5	54436230	Silent	SNP	G	TCGA-CS-4942-01A-01D-1468-08		54436230	126479030	21	19998											
PIK3R1	5295	broad.mit.edu	37	chr5	67575480	67575480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcacgttttggctgacGctttcaaacgctatctcctg	7	14	9	11	3	2	1	1	1	1	0	3	1	2	1	1	1	2	5	1	1	2	4			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr5:67575480G>A	ENST00000521381.1	+	5	1169	c.553G>A	c.(553-555)Gct>Act	p.A185T	PIK3R1_ENST00000396611.1_Missense_Mutation_p.A185T|PIK3R1_ENST00000274335.5_Missense_Mutation_p.A185T|PIK3R1_ENST00000521657.1_Missense_Mutation_p.A185T	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	185	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TTTGGCTGACGCTTTCAAACG	0.383			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67575480	G	A	67575480	3	1	286	1	0	0	0	0	1	0	0	0	11995	1087	38	1	567	1	PIK3R1	5	67575480	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	13139250	67575480	113339780	22	19999											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410420	32410420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacatagctgtggacaaagCcaacctggaaatcatgacaa	17	6	8	10	0	1	1	1	1	0	0	1	3	1	3	2	2	4	1	2	2	6	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:32410420C>A	ENST00000395388.2	+	2	387	c.278C>A	c.(277-279)gCc>gAc	p.A93D	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.A93D	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	93	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						GTGGACAAAGCCAACCTGGAA	0.493									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				A	32410420	C	A	32410420	3	1	286	1	0	0	0	0	1	0	0	0	7262	739	26	4	284	4	HLA-DRA	6	32410420	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		32410420	138704647	23	20000											
DNAH8	1769	broad.mit.edu	37	chr6	38885723	38885723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtgcaacaggattccTgtggagccttcagcagttcc	9	10	12	10	0	1	1	1	1	0	0	3	4	3	3	3	2	4	3	3	2	1	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:38885723T>C	ENST00000359357.3	+	68	9934	c.9680T>C	c.(9679-9681)cTg>cCg	p.L3227P	DNAH8_ENST00000449981.2_Missense_Mutation_p.L3444P|DNAH8_ENST00000441566.1_Missense_Mutation_p.L3191P					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGGATTCCTGTGGAGCCTT	0.343													C	38885723	T	C	38885723	3	2	286	1	0	0	0	0	1	0	0	0	4646	1580	55	3	9942	3	DNAH8	6	38885723	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	6475303	38885723	132229344	24	20001											
ZNF292	23036	broad.mit.edu	37	chr6	87964677	87964677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaactcaatggccctttgatCcagaattctgggattggaaa	13	11	9	8	0	2	2	1	1	1	1	3	4	3	4	2	3	1	0	2	3	4	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:87964677C>T	ENST00000369577.3	+	8	1373	c.1330C>T	c.(1330-1332)Cca>Tca	p.P444S	ZNF292_ENST00000339907.4_Missense_Mutation_p.P439S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCCCTTTGATCCAGAATTCTG	0.378													T	87964677	C	T	87964677	3	4	286	1	0	0	0	0	1	0	0	0	17927	855	30	2	1360	2	ZNF292	6	87964677	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	49078954	87964677	83150390	25	20002											
TAB2	23118	broad.mit.edu	37	chr6	149699803	149699803	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagtttatcagccttCacagcctggtccctggacta	9	11	8	13	0	3	0	3	0	0	0	4	1	4	1	3	2	3	2	3	2	3	4			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:149699803C>A	ENST00000367456.1	+	4	1329	c.752C>A	c.(751-753)tCa>tAa	p.S251*	TAB2_ENST00000536230.1_Nonsense_Mutation_p.S219*|TAB2_ENST00000286332.5_Nonsense_Mutation_p.S251*|TAB2_ENST00000392282.1_Nonsense_Mutation_p.S251*|TAB2_ENST00000538427.1_Nonsense_Mutation_p.S251*			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	251					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						TATCAGCCTTCACAGCCTGGT	0.483													A	149699803	C	A	149699803	4	1	286	1	0	0	0	0	0	1	0	0	15593	838	29	4	758	4	TAB2	6	149699803	Nonsense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	61735126	149699803	21415264	26	20003											
FRMD1	79981	broad.mit.edu	37	chr6	168479688	168479688	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggcctctcaggactgggTtccatacatcgcgcccctga	7	8	11	15	2	1	1	1	1	1	0	4	2	2	2	4	3	1	2	4	3	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr6:168479688T>C	ENST00000283309.6	-	1	151	c.87A>G	c.(85-87)gaA>gaG	p.E29E		NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	29						cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGGACTGGGTTCCATACATC	0.652													C	168479688	T	C	168479688	2	2	286	1	0	0	0	0	0	0	0	1	6101	1722	60	3		3	FRMD1	6	168479688	Silent	SNP	T	TCGA-CS-4942-01A-01D-1468-08	18779885	168479688	2635379	27	20004											
PDE1C	5137	broad.mit.edu	37	chr7	31877484	31877484	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagccacaagcacacttacGcttctggctgctgcagagca	11	7	9	14	1	1	1	0	0	1	1	1	1	1	1	1	1	6	6	1	1	3	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:31877484G>A	ENST00000396184.3	-	11	1286	c.1082C>T	c.(1081-1083)gCc>gTc	p.A361V	PDE1C_ENST00000396193.1_Splice_Site_p.A421V|PDE1C_ENST00000396191.1_Splice_Site_p.A361V|PDE1C_ENST00000321453.7_Splice_Site_p.A361V|PDE1C_ENST00000396182.2_Splice_Site_p.A361V	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	361	Catalytic (By similarity).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			GCACACTTACGCTTCTGGCTG	0.428													A	31877484	G	A	31877484	5	1	286	1	0	0	0	0	0	0	1	0	11711	1101	38	1	854	1	PDE1C	7	31877484	Splice_Site	SNP	G	TCGA-CS-4942-01A-01D-1468-08		31877484	127261179	28	20005											
MYL10	93408	broad.mit.edu	37	chr7	101256959	101256959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctcctcctcactgaagcGgtctgcctgggtcataagtt	7	12	9	13	1	3	1	2	1	1	0	5	1	5	1	4	2	3	1	4	2	3	3	rs141873317	byFrequency	TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr7:101256959G>T	ENST00000223167.4	-	7	742	c.565C>A	c.(565-567)Cgc>Agc	p.R189S		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	189	EF-hand 2.					mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						TCACTGAAGCGGTCTGCCTGG	0.552													T	101256959	G	T	101256959	3	4	286	1	0	0	0	0	1	0	0	0	10120	1116	39	4	123	4	MYL10	7	101256959	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	69379475	101256959	57881704	29	20006											
BMP1	649	broad.mit.edu	37	chr8	22049614	22049614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcagccgcctgtgctggtAcgactatgtggaggtccgag	6	8	15	12	4	0	0	0	0	0	0	1	3	1	1	4	3	3	3	4	3	2	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:22049614A>G	ENST00000306385.5	+	9	1800	c.1130A>G	c.(1129-1131)tAc>tGc	p.Y377C	BMP1_ENST00000397816.3_Missense_Mutation_p.Y377C|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000306349.8_Missense_Mutation_p.Y377C|BMP1_ENST00000397814.3_Missense_Mutation_p.Y377C	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	377	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTGCTGGTACGACTATGTG	0.607													G	22049614	A	G	22049614	3	3	286	1	0	0	0	0	1	0	0	0	1462	391	14	3	1164	3	BMP1	8	22049614	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		22049614	124314408	30	20007											
ZNF16	7564	broad.mit.edu	37	chr8	146156188	146156191	+	Frame_Shift_Del	DEL	CAAG	CAAG	-																															gctggctgaaggctttcccaCaagcagcacagtcatagggc																										TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr8:146156188_146156191delCAAG	ENST00000276816.4	-	4	2168_2171	c.1982_1985delCTTG	c.(1981-1986)gcttgtfs	p.AC661fs	ZNF16_ENST00000394909.2_Frame_Shift_Del_p.AC661fs	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		GGCTTTCCCACAAGCAGCACAGTC	0.525													-	146156191	CAAG	-	146156188	7	5	286	1	0	1	0	1	0	0	0	0	17839	478	17	0	67	0	ZNF16	8	146156188	Frame_Shift_Del	DEL	CAAG	TCGA-CS-4942-01A-01D-1468-08	124106574	146156188	207834	31	20008											
GRIN3A	116443	broad.mit.edu	37	chr9	104499941	104499941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcttacgggagcccggCggcccccggccatgcagggt	4	4	17	16	5	0	0	0	0	0	0	0	1	0	1	5	6	3	2	5	6	1	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr9:104499941C>T	ENST00000361820.3	-	1	921	c.321G>A	c.(319-321)ccG>ccA	p.P107P		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	107					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGGAGCCCGGCGGCCCCCGGC	0.751													T	104499941	C	T	104499941	2	4	286	1	0	0	0	0	0	0	0	1	6838	755	27	1		1	GRIN3A	9	104499941	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		104499941	36713490	32	20009											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406654	75406654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagttctgttctccagAtgggctcatccagtgtagtg	7	12	12	10	0	3	1	1	0	2	1	5	1	4	1	3	2	0	4	3	2	1	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:75406654A>G	ENST00000394810.2	-	4	2905	c.2756T>C	c.(2755-2757)aTc>aCc	p.I919T	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.I695T	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	919	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					TGTTCTCCAGATGGGCTCATC	0.652													G	75406654	A	G	75406654	3	3	286	1	0	0	0	0	1	0	0	0	15555	333	12	3	181	3	SYNPO2L	10	75406654	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		75406654	60128093	33	20010											
LRIT1	26103	broad.mit.edu	37	chr10	86001161	86001161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgggggggccacgcaaggGccaagagccagagcatgcct	9	3	16	13	1	0	2	0	0	0	2	0	2	0	2	5	4	3	2	5	4	2	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr10:86001161G>A	ENST00000372105.3	-	1	56	c.35C>T	c.(34-36)gCc>gTc	p.A12V		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	12						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						CCACGCAAGGGCCAAGAGCCA	0.677													A	86001161	G	A	86001161	3	1	286	1	0	0	0	0	1	0	0	0	9017	1203	42	2	1852	2	LRIT1	10	86001161	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	10594507	86001161	49533586	34	20011											
F2	2147	broad.mit.edu	37	chr11	46760818	46760818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcatctttcttcttcagagcCcctttaacaaccgctggtat	8	15	5	13	1	5	1	2	0	3	1	5	1	5	1	3	1	3	2	3	1	3	6			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:46760818C>T	ENST00000311907.5	+	14	1785	c.1729C>T	c.(1729-1731)Ccc>Tcc	p.P577S	F2_ENST00000530231.1_Missense_Mutation_p.P538S	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	577	Peptidase S1.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	TCTTCAGAGCCCCTTTAACAA	0.478													T	46760818	C	T	46760818	3	4	286	1	0	0	0	0	1	0	0	0	5384	623	22	2	1783	2	F2	11	46760818	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		46760818	88245698	35	20012											
WNT11	7481	broad.mit.edu	37	chr11	75902837	75902837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccccttccagcaggtgcGgatggagcaggagccagaca	10	4	14	13	1	0	1	0	0	0	1	1	4	1	4	4	4	5	2	4	4	0	1			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr11:75902837G>A	ENST00000322563.3	-	4	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	RP11-619A14.2_ENST00000527314.1_RNA	NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	221					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.R221C(3)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CAGCAGGTGCGGATGGAGCAG	0.637													A	75902837	G	A	75902837	3	1	286	1	0	0	0	0	1	0	0	0	17486	1116	39	1	411	1	WNT11	11	75902837	Missense_Mutation	SNP	G	TCGA-CS-4942-01A-01D-1468-08	29142019	75902837	59103679	36	20013											
DGKH	160851	broad.mit.edu	37	chr13	42763202	42763202	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacgagaagctcgaacaaCtgctgcaggctttgcacaca	14	7	9	11	2	0	1	0	0	0	1	1	3	0	1	0	1	7	5	0	1	5	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr13:42763202C>T	ENST00000261491.5	+	15	1690	c.1669C>T	c.(1669-1671)Ctg>Ttg	p.L557L	DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000540693.1_Silent_p.L557L|DGKH_ENST00000337343.4_Silent_p.L557L|DGKH_ENST00000538674.1_Silent_p.L312L|DGKH_ENST00000379274.2_Silent_p.L421L|DGKH_ENST00000536612.1_Silent_p.L421L	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		GCTCGAACAACTGCTGCAGGC	0.463													T	42763202	C	T	42763202	2	4	286	1	0	0	0	0	0	0	0	1	4509	564	20	2		2	DGKH	13	42763202	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		42763202	72406676	37	20014											
C16orf71	146562	broad.mit.edu	37	chr16	4786629	4786629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagctcccgtctctggaCtcagactcccctttggtaag	7	10	9	15	1	2	1	1	0	1	1	5	3	4	2	4	2	1	2	4	2	1	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:4786629C>G	ENST00000299320.5	+	2	592	c.114C>G	c.(112-114)gaC>gaG	p.D38E	RP11-127I20.7_ENST00000588099.1_RNA|C16orf71_ENST00000590191.1_Missense_Mutation_p.D38E	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	38										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGTCTCTGGACTCAGACTCCC	0.592													G	4786629	C	G	4786629	3	3	286	1	0	0	0	0	1	0	0	0	1844	564	20	4	116	4	C16orf71	16	4786629	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		4786629	85568124	38	20015											
RABEP2	79874	broad.mit.edu	37	chr16	28922261	28922261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtcccttgcagggtcCgcagcagctgctctgagttc	5	10	12	14	2	2	1	1	1	1	0	5	1	4	1	2	2	4	6	2	2	0	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr16:28922261C>T	ENST00000358201.4	-	7	1625	c.1037G>A	c.(1036-1038)cGg>cAg	p.R346Q	RABEP2_ENST00000357573.6_Missense_Mutation_p.R314Q|RABEP2_ENST00000544477.1_Missense_Mutation_p.R275Q	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	346					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						TTGCAGGGTCCGCAGCAGCTG	0.677													T	28922261	C	T	28922261	3	4	286	1	0	0	0	0	1	0	0	0	13050	652	23	1	700	1	RABEP2	16	28922261	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	24135632	28922261	61432492	39	20016											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 LFS; 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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552		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)			A	7577114	C	A	7577114	3	1	286	1	0	0	0	0	1	0	0	0	16482	478	17	4	462	4	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08		7577114	73618096	40	20017											
YES1	7525	broad.mit.edu	37	chr18	756710	756710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgacggacatggtgAcactgtagtgggttctgctc	9	11	14	7	1	1	4	0	3	1	1	2	5	1	5	0	3	1	3	0	3	2	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr18:756710A>G	ENST00000584307.1	-	2	288	c.118T>C	c.(118-120)Tca>Cca	p.S40P	YES1_ENST00000577611.1_5'UTR|YES1_ENST00000314574.4_Missense_Mutation_p.S40P|YES1_ENST00000577961.1_Missense_Mutation_p.S45P			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	40					blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GGACATGGTGACACTGTAGTG	0.453													G	756710	A	G	756710	3	3	286	1	0	0	0	0	1	0	0	0	17576	275	10	3	1557	3	YES1	18	756710	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		756710	77320538	41	20018											
WDR18	57418	broad.mit.edu	37	chr19	991974	991974	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagtcaccaatgccgcCatcctgctggcgcccgtcag	6	6	11	18	3	2	0	2	0	0	0	3	0	3	0	6	2	2	1	6	2	1	0			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:991974C>T	ENST00000251289.5	+	8	974	c.951C>T	c.(949-951)gcC>gcT	p.A317A	WDR18_ENST00000587001.2_Silent_p.A317A	NM_024100.3	NP_077005.2	Q9BV38	WDR18_HUMAN	WD repeat domain 18	317										endometrium(1)|kidney(2)|lung(2)|skin(2)	7		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCAATGCCGCCATCCTGCTGG	0.711													T	991974	C	T	991974	2	4	286	1	0	0	0	0	0	0	0	1	17380	581	21	2		2	WDR18	19	991974	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08		991974	58137009	42	20019											
ATP4A	495	broad.mit.edu	37	chr19	36054147	36054147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatttctgttccagctcCgccactgacagctggtggtc	5	13	11	12	1	1	1	0	1	1	0	4	1	3	1	3	3	2	4	3	3	1	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr19:36054147C>T	ENST00000262623.3	-	3	208	c.180G>A	c.(178-180)gcG>gcA	p.A60A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	60					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	p.A60A(1)		breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTTCCAGCTCCGCCACTGACA	0.642													T	36054147	C	T	36054147	2	4	286	1	0	0	0	0	0	0	0	1	1150	639	23	1		1	ATP4A	19	36054147	Silent	SNP	C	TCGA-CS-4942-01A-01D-1468-08	35062173	36054147	23074836	43	20020											
EIF3L	51386	broad.mit.edu	37	chr22	38271891	38271891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccaggtcaccacatactAttatgttgggtttgcatatt	9	15	9	8	0	1	0	1	0	0	0	1	0	1	0	2	2	3	3	2	2	4	7			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chr22:38271891A>G	ENST00000412331.2	+	10	1532	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	EIF3L_ENST00000406934.1_Missense_Mutation_p.Y219C|EIF3L_ENST00000381683.6_Missense_Mutation_p.Y269C	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	317						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ACCACATACTATTATGTTGGG	0.468													G	38271891	A	G	38271891	3	3	286	1	0	0	0	0	1	0	0	0	5063	449	16	3	988	3	EIF3L	22	38271891	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08		38271891	13032675	44	20021											
KAL1	3730	broad.mit.edu	37	chrX	8555923	8555923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccacatagatcacaggcTcaatagaaatattgaatttc	16	11	6	8	0	2	3	2	1	0	2	3	3	2	3	1	1	1	2	1	1	7	6			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:8555923T>C	ENST00000262648.3	-	5	787	c.638A>G	c.(637-639)gAg>gGg	p.E213G		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	213	Fibronectin type-III 1.				axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GATCACAGGCTCAATAGAAAT	0.468													C	8555923	T	C	8555923	3	2	286	1	0	0	0	0	1	0	0	0	8032	1551	54	3	1444	3	KAL1	23	8555923	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08		8555923	146714637	45	20022											
BCOR	54880	broad.mit.edu	37	chrX	39923699	39923699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcgtttcctgtccaccCggagggtggggctgtgaggc	3	11	16	11	2	0	1	0	1	0	0	2	2	2	2	3	5	1	2	3	5	0	2			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:39923699C>T	ENST00000342274.4	-	7	3754	c.3392G>A	c.(3391-3393)cGg>cAg	p.R1131Q	BCOR_ENST00000378463.1_Missense_Mutation_p.R8Q|BCOR_ENST00000378444.4_Missense_Mutation_p.R1131Q|BCOR_ENST00000378455.4_Missense_Mutation_p.R1113Q|BCOR_ENST00000397354.3_Missense_Mutation_p.R1131Q	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1131					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding	p.R1131L(1)		breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTGTCCACCCGGAGGGTGGG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39923699	C	T	39923699	3	4	286	1	0	0	0	0	1	0	0	0	1391	652	23	1	1911	1	BCOR	23	39923699	Missense_Mutation	SNP	C	TCGA-CS-4942-01A-01D-1468-08	31367776	39923699	115346861	46	20023											
ZNF41	7592	broad.mit.edu	37	chrX	47307253	47307253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaagcatttcccacagTcgctgcattcataaggcttc	10	12	8	11	1	1	1	1	1	0	0	4	1	2	1	1	1	2	4	1	1	3	5			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:47307253T>G	ENST00000377065.4	-	5	2555	c.1916A>C	c.(1915-1917)gAc>gCc	p.D639A	ZNF41_ENST00000313116.7_Missense_Mutation_p.D639A|ZNF41_ENST00000397050.2_Missense_Mutation_p.D649A	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	681						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TTTCCCACAGTCGCTGCATTC	0.468													G	47307253	T	G	47307253	3	3	286	1	0	0	0	0	1	0	0	0	17990	1667	58	5	427	5	ZNF41	23	47307253	Missense_Mutation	SNP	T	TCGA-CS-4942-01A-01D-1468-08	7383554	47307253	107963307	47	20024											
USP51	158880	broad.mit.edu	37	chrX	55514658	55514658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttcatatgggtactacAtacgtgacagatgcatgact	11	13	9	8	1	2	3	1	2	1	1	2	3	2	3	0	1	4	3	0	1	4	5			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:55514658A>G	ENST00000500968.3	-	2	797	c.715T>C	c.(715-717)Tgt>Cgt	p.C239R	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	239					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TGGGTACTACATACGTGACAG	0.453													G	55514658	A	G	55514658	3	3	286	1	0	0	0	0	1	0	0	0	17185	217	8	3	1424	3	USP51	23	55514658	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	8207405	55514658	99755902	48	20025											
ATRX	546	broad.mit.edu	37	chrX	76854942	76854942	+	Frame_Shift_Del	DEL	C	C	-																															catccacatttccttcaccaCctccccgagatcttgaattc																										TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:76854942delC	ENST00000373344.5	-	25	6108	c.5894delG	c.(5893-5895)ggtfs	p.G1966fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1928fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1966					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)	TCCTTCACCACCTCCCCGAGA	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76854942	C	-	76854942	7	5	286	1	0	1	0	1	0	0	0	0	1213	507	18	0	1628	0	ATRX	23	76854942	Frame_Shift_Del	DEL	C	TCGA-CS-4942-01A-01D-1468-08	21340284	76854942	78415618	49	20026											
FRMD7	90167	broad.mit.edu	37	chrX	131216497	131216497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccacacaagtcttccagaAagccttgcaggcatctcggc	10	9	8	14	1	2	1	0	0	2	1	5	1	4	1	3	2	2	2	3	2	2	3			TCGA-CS-4942-01A-01D-1468-08	TCGA-CS-4942-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee5832e7-577c-4507-a4fd-a70646fabc24	f2b83686-8044-4e74-9554-8b4d3c40b2b2	g.chrX:131216497A>G	ENST00000298542.4	-	9	974	c.799T>C	c.(799-801)Ttc>Ctc	p.F267L	FRMD7_ENST00000370879.1_Missense_Mutation_p.F147L|FRMD7_ENST00000464296.1_Missense_Mutation_p.F252L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	267	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					GTCTTCCAGAAAGCCTTGCAG	0.463													G	131216497	A	G	131216497	3	3	286	1	0	0	0	0	1	0	0	0	6107	14	1	3	1361	3	FRMD7	23	131216497	Missense_Mutation	SNP	A	TCGA-CS-4942-01A-01D-1468-08	54361555	131216497	24054063	50	20027											
GBP1	2633	broad.mit.edu	37	chr1	89520410	89520410	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcttgctctttcagcaactgGaccctgtcgttctccatctt	5	16	6	14	1	5	0	1	0	4	0	7	1	5	1	2	1	3	3	2	1	1	4			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr1:89520410G>C	ENST00000370473.4	-	10	1839	c.1620C>G	c.(1618-1620)gtC>gtG	p.V540V	GBP1_ENST00000484970.1_5'UTR	NM_002053.2	NP_002044.2	P32455	GBP1_HUMAN	guanylate binding protein 1, interferon-inducible	540					interferon-gamma-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity			endometrium(7)|kidney(4)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	30		Lung NSC(277;0.123)		all cancers(265;0.0156)|Epithelial(280;0.0291)		TCAGCAACTGGACCCTGTCGT	0.433													C	89520410	G	C	89520410	2	2	287	1	0	0	0	0	0	0	0	1	6327	1161	41	4		4	GBP1	1	89520410	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08		89520410	159730211	1	20028											
RSBN1	54665	broad.mit.edu	37	chr1	114310931	114310931	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgacatgatcagcatgagctCtagtcctatcttcaaagaga	13	10	8	10	1	4	3	2	2	2	1	5	5	5	3	1	0	2	2	1	0	3	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr1:114310931C>G	ENST00000261441.5	-	5	1802	c.1739G>C	c.(1738-1740)aGa>aCa	p.R580T		NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	580						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGCATGAGCTCTAGTCCTATC	0.433													G	114310931	C	G	114310931	3	3	287	1	0	0	0	0	1	0	0	0	13787	913	32	4	681	4	RSBN1	1	114310931	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	24790521	114310931	134939690	2	20029											
ROCK2	9475	broad.mit.edu	37	chr2	11355517	11355517	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttttttcaaatcttcaAgttgatcttttaagctgtta	9	22	4	6	0	5	1	2	1	3	0	5	1	5	1	0	0	1	3	0	0	4	9			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:11355517A>T	ENST00000315872.6	-	15	2067	c.1619T>A	c.(1618-1620)cTt>cAt	p.L540H	ROCK2_ENST00000401753.1_Missense_Mutation_p.L297H	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	540	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAATCTTCAAGTTGATCTTT	0.308													T	11355517	A	T	11355517	3	4	287	1	0	0	0	0	1	0	0	0	13609	72	3	5	2623	5	ROCK2	2	11355517	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		11355517	231843856	3	20030											
LIMS2	55679	broad.mit.edu	37	chr2	128399630	128399630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctggctcacctccacGtgccactgcttgcccagcgc	5	7	9	20	2	1	0	1	0	0	0	2	0	2	0	6	1	5	2	6	1	0	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:128399630G>A	ENST00000409455.1	-	6	1274	c.639C>T	c.(637-639)caC>caT	p.H213H	LIMS2_ENST00000324938.5_Silent_p.H242H|LIMS2_ENST00000545738.2_Silent_p.H240H|LIMS2_ENST00000409808.2_Silent_p.H213H|LIMS2_ENST00000410038.1_Silent_p.H66H|LIMS2_ENST00000409754.1_Silent_p.H66H|LIMS2_ENST00000355119.4_Silent_p.H218H|LIMS2_ENST00000409286.1_Silent_p.H66H|LIMS2_ENST00000409254.1_Silent_p.H66H|LIMS2_ENST00000410011.1_Silent_p.H213H			Q7Z4I7	LIMS2_HUMAN	LIM and senescent cell antigen-like domains 2	218	LIM zinc-binding 4.				cell junction assembly	cytosol|focal adhesion|nucleus	zinc ion binding	p.H242H(1)		endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0681)		TCACCTCCACGTGCCACTGCT	0.677													A	128399630	G	A	128399630	2	1	287	1	0	0	0	0	0	0	0	1	8864	1136	40	1		1	LIMS2	2	128399630	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	117044113	128399630	114799743	4	20031											
CALCRL	10203	broad.mit.edu	37	chr2	188225389	188225389	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacggccaccacaatgagTgtgtgtaggtaaatgccttc	12	9	10	10	1	0	1	0	1	0	0	1	1	0	1	3	2	2	2	3	2	5	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:188225389T>G	ENST00000409998.1	-	11	1498	c.717A>C	c.(715-717)acA>acC	p.T239T	AC007319.1_ENST00000453517.1_RNA|CALCRL_ENST00000392370.3_Silent_p.T239T|CALCRL_ENST00000410068.1_Silent_p.T239T|AC007319.1_ENST00000412276.1_RNA			Q16602	CALRL_HUMAN	calcitonin receptor-like	239						integral to plasma membrane				endometrium(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(96;0.227)			CCACAATGAGTGTGTGTAGGT	0.403													G	188225389	T	G	188225389	2	3	287	1	0	0	0	0	0	0	0	1	2606	1683	59	5		5	CALCRL	2	188225389	Silent	SNP	T	TCGA-CS-4943-01A-01D-1468-08	59825759	188225389	54973984	5	20032											
ALS2	57679	broad.mit.edu	37	chr2	202609063	202609063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtagtagctaactcGtggagactggcaatataccc	10	12	9	10	1	1	1	0	0	1	1	2	2	1	1	1	2	3	4	1	2	6	6			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr2:202609063G>A	ENST00000264276.6	-	10	2460	c.2088C>T	c.(2086-2088)caC>caT	p.H696H	ALS2_ENST00000457679.2_Silent_p.H8H	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	696	DH.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						TAGCTAACTCGTGGAGACTGG	0.398													A	202609063	G	A	202609063	2	1	287	1	0	0	0	0	0	0	0	1	550	1136	40	1		1	ALS2	2	202609063	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	14383674	202609063	40590310	6	20033											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	287	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	6504049	209113112	34086261	7	20034											
KCNH8	131096	broad.mit.edu	37	chr3	19575087	19575087	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacacttgcaaacaggCggggctgcttatacccaagc	10	8	10	13	1	0	0	0	0	0	0	0	0	0	0	2	3	7	3	2	3	5	4	rs151258565	by1000genomes	TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:19575087C>T	ENST00000328405.2	+	16	3086	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542													T	19575087	C	T	19575087	2	4	287	1	0	0	0	0	0	0	0	1	8096	755	27	1		1	KCNH8	3	19575087	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08		19575087	178447343	8	20035											
MCM2	4171	broad.mit.edu	37	chr3	127337890	127337890	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgagatgctggcccgcttCgtggtgggcagccacgtcag	6	7	16	12	4	1	1	1	0	0	1	2	3	1	1	2	3	2	3	2	3	0	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:127337890C>T	ENST00000265056.7	+	13	2278	c.2034C>T	c.(2032-2034)ttC>ttT	p.F678F	MCM2_ENST00000468414.1_3'UTR	NM_004526.2	NP_004517.2	P49736	MCM2_HUMAN	minichromosome maintenance complex component 2	678	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|helicase activity|metal ion binding			ovary(3)|skin(2)|stomach(1)	6						TGGCCCGCTTCGTGGTGGGCA	0.632													T	127337890	C	T	127337890	2	4	287	1	0	0	0	0	0	0	0	1	9461	883	31	1		1	MCM2	3	127337890	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08	107762803	127337890	70684540	9	20036											
CP	1356	broad.mit.edu	37	chr3	148930358	148930358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgataatagggcctaaaaAcccaagccagaccggttttt	13	11	8	9	1	0	2	0	1	0	1	0	2	0	2	4	2	2	1	4	2	6	6			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr3:148930358A>G	ENST00000264613.6	-	2	536	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	92	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GGGCCTAAAAACCCAAGCCAG	0.398													G	148930358	A	G	148930358	3	3	287	1	0	0	0	0	1	0	0	0	3818	43	2	3	2995	3	CP	3	148930358	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08	21592468	148930358	49092072	10	20037											
GFPT2	9945	broad.mit.edu	37	chr5	179740844	179740844	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctccggccctgcgttgAtgtggacgccgcagtcggtc	4	9	14	14	6	1	1	0	1	1	0	4	3	1	2	3	3	1	2	3	3	0	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr5:179740844A>T	ENST00000253778.8	-	14	1563	c.1394T>A	c.(1393-1395)aTc>aAc	p.I465N		NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2	465	SIS 1.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCTGCGTTGATGTGGACGCC	0.701													T	179740844	A	T	179740844	3	4	287	1	0	0	0	0	1	0	0	0	6402	333	12	5	678	5	GFPT2	5	179740844	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		179740844	1174416	11	20038											
ROS1	6098	broad.mit.edu	37	chr6	117609712	117609712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatagttcaggccttcAggcttgccagaagggcagta	10	8	13	10	0	2	1	2	0	0	1	2	1	2	1	2	4	1	5	2	4	3	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr6:117609712A>G	ENST00000368508.3	-	43	7185	c.6987T>C	c.(6985-6987)ccT>ccC	p.P2329P	ROS1_ENST00000368507.3_Silent_p.P2323P	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2329					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGCCTTCAGGCTTGCCAG	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								G	117609712	A	G	117609712	2	3	287	1	0	0	0	0	0	0	0	1	13622	175	7	3		3	ROS1	6	117609712	Silent	SNP	A	TCGA-CS-4943-01A-01D-1468-08		117609712	53505355	12	20039											
NKAIN2	154215	broad.mit.edu	37	chr6	124979504	124979504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagtacatagaagtggCtcatagttccctccagattg	11	11	9	10	0	1	2	1	0	0	2	3	2	3	2	3	1	2	4	3	1	5	6			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr6:124979504C>T	ENST00000368417.1	+	4	506	c.446C>T	c.(445-447)gCt>gTt	p.A149V	NKAIN2_ENST00000546092.1_Intron|NKAIN2_ENST00000545433.1_Missense_Mutation_p.A134V|NKAIN2_ENST00000368416.1_Missense_Mutation_p.A149V	NM_001040214.1	NP_001035304.1	Q5VXU1	NKAI2_HUMAN	Na+/K+ transporting ATPase interacting 2	149						integral to membrane|plasma membrane				cervix(1)|endometrium(1)|large_intestine(3)|lung(12)|skin(2)	19				GBM - Glioblastoma multiforme(226;0.104)		ATAGAAGTGGCTCATAGTTCC	0.542													T	124979504	C	T	124979504	3	4	287	1	0	0	0	0	1	0	0	0	10512	797	28	2	460	2	NKAIN2	6	124979504	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	7369792	124979504	46135563	13	20040											
EIF3B	8662	broad.mit.edu	37	chr7	2404028	2404028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggacagagacgtatgtgCgttggtctcctaagggcacc	9	9	14	9	2	1	1	0	0	1	1	2	4	1	2	2	3	1	3	2	3	2	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr7:2404028C>T	ENST00000360876.4	+	6	1077	c.1021C>T	c.(1021-1023)Cgt>Tgt	p.R341C	EIF3B_ENST00000397011.2_Missense_Mutation_p.R341C	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	341	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GACGTATGTGCGTTGGTCTCC	0.458													T	2404028	C	T	2404028	3	4	287	1	0	0	0	0	1	0	0	0	5052	768	27	1	1043	1	EIF3B	7	2404028	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		2404028	156734635	14	20041											
PKD1L1	168507	broad.mit.edu	37	chr7	47876598	47876598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaggacacggtgaggcgcGgcgtgtgcaggtagcggctg	8	5	20	8	5	0	2	0	1	0	1	0	3	0	3	0	6	2	3	0	6	2	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr7:47876598G>A	ENST00000289672.2	-	37	5914	c.5864C>T	c.(5863-5865)cCg>cTg	p.P1955L		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1955					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGTGAGGCGCGGCGTGTGCAG	0.582													A	47876598	G	A	47876598	3	1	287	1	0	0	0	0	1	0	0	0	12041	1116	39	1	2769	1	PKD1L1	7	47876598	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	45472570	47876598	111262065	15	20042											
CDKN2A	1029	broad.mit.edu	37	chr9	21974684	21974684	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accctctacccacctggatcGgcctccgaccgtaactattc	8	9	6	18	3	1	0	0	0	1	0	4	2	2	1	6	2	2	1	6	2	3	4			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:21974684G>C	ENST00000304494.5	-	1	413	c.143C>G	c.(142-144)cCg>cGg	p.P48R	CDKN2A_ENST00000498124.1_Missense_Mutation_p.P48R|CDKN2A_ENST00000530628.2_Intron|CDKN2A_ENST00000579755.1_Intron|CDKN2A_ENST00000361570.3_Intron|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000494262.1_Intron|CDKN2A_ENST00000446177.1_Missense_Mutation_p.P48R|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000579122.1_Missense_Mutation_p.P48R	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	48			P -> L (in CMM2 and a head and neck tumor; somatic mutation).		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(25)|p.P48L(8)|p.P48R(1)|p.0(1)|p.V28_V51del(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CACCTGGATCGGCCTCCGACC	0.677		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			C	21974684	G	C	21974684	3	2	287	1	0	0	0	0	1	0	0	0	3191	1116	39	4	540	4	CDKN2A	9	21974684	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		21974684	119238747	16	20043											
WNK2	65268	broad.mit.edu	37	chr9	96080327	96080327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggttcctgtggtccacgcGccgtctccacacccacttcc	5	10	8	18	3	1	0	0	0	1	0	5	0	4	0	6	2	0	1	6	2	1	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:96080327G>A	ENST00000427277.2	+	29	6646	c.5482G>A	c.(5482-5484)Gcc>Acc	p.A1828T	WNK2_ENST00000297954.4_3'UTR|WNK2_ENST00000356055.3_Intron|WNK2_ENST00000349097.3_Intron|WNK2_ENST00000395477.2_Intron|WNK2_ENST00000471076.1_Intron|WNK2_ENST00000395475.2_Intron			Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	118					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGTCCACGCGCCGTCTCCAC	0.582													A	96080327	G	A	96080327	3	1	287	1	0	0	0	0	1	0	0	0	17480	1102	38	1		1	WNK2	9	96080327	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	74105643	96080327	45133104	17	20044											
XPA	7507	broad.mit.edu	37	chr9	100459509	100459509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatactcgcccgcaccgaGgcaggcagctccgcgggttg	6	6	14	15	6	0	0	0	0	0	0	3	2	1	0	3	3	2	5	3	3	1	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:100459509G>A	ENST00000375128.4	-	1	130	c.66C>T	c.(64-66)gcC>gcT	p.A22A		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	22	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCCGCACCGAGGCAGGCAGCT	0.736			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	100459509	G	A	100459509	2	1	287	1	0	0	0	0	0	0	0	1	17542	987	35	2		2	XPA	9	100459509	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08	4379182	100459509	40753922	18	20045											
NUP214	8021	broad.mit.edu	37	chr9	134073213	134073213	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtttttcatttggaagccaAcagaccaatagcacagtgcc	13	10	8	10	0	1	1	1	0	0	1	1	2	1	2	3	1	4	2	3	1	4	4			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr9:134073213A>G	ENST00000359428.5	+	29	4476	c.4332A>G	c.(4330-4332)caA>caG	p.Q1444Q	NUP214_ENST00000465486.2_3'UTR|NUP214_ENST00000483497.2_Silent_p.Q270Q|NUP214_ENST00000411637.2_Silent_p.Q1434Q|NUP214_ENST00000451030.1_Silent_p.Q1445Q			P35658	NU214_HUMAN	nucleoporin 214kDa	1444	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		TTGGAAGCCAACAGACCAATA	0.522			T	"DEK, SET, ABL1"	"AML, T-ALL"								G	134073213	A	G	134073213	2	3	287	1	0	0	0	0	0	0	0	1	10838	40	2	3		3	NUP214	9	134073213	Silent	SNP	A	TCGA-CS-4943-01A-01D-1468-08	33613704	134073213	7140218	19	20046											
GLYAT	10249	broad.mit.edu	37	chr11	58477535	58477535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaggtctgaatgcagcGctcaatgaatctctggctcc	10	9	12	10	1	3	2	1	2	2	0	5	3	4	3	1	3	2	3	1	3	4	0	rs138125182		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:58477535G>A	ENST00000344743.3	-	6	736	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	199					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGAATGCAGCGCTCAATGAAT	0.502													A	58477535	G	A	58477535	3	1	287	1	0	0	0	0	1	0	0	0	6535	1087	38	1	299	1	GLYAT	11	58477535	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		58477535	76528981	20	20047											
C2CD3	26005	broad.mit.edu	37	chr11	73829328	73829328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgatcacttgactccagaaCcttagatgatctggcaagag	13	10	9	9	0	2	6	1	3	1	3	3	6	3	6	2	1	1	1	2	1	3	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:73829328C>G	ENST00000334126.7	-	9	1691	c.1465G>C	c.(1465-1467)Gtt>Ctt	p.V489L	C2CD3_ENST00000313663.7_Missense_Mutation_p.V489L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	489						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GACTCCAGAACCTTAGATGAT	0.413													G	73829328	C	G	73829328	3	3	287	1	0	0	0	0	1	0	0	0	2175	507	18	4	4518	4	C2CD3	11	73829328	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	15351793	73829328	61177188	21	20048											
ST14	6768	broad.mit.edu	37	chr11	130069892	130069892	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcgtgttgttgggggCacggatgcggatgagggcga	6	8	20	7	4	0	1	0	1	0	0	1	4	0	3	0	6	1	4	0	6	0	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr11:130069892C>T	ENST00000278742.5	+	16	2272	c.1854C>T	c.(1852-1854)ggC>ggT	p.G618G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	618	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TTGTTGGGGGCACGGATGCGG	0.617													T	130069892	C	T	130069892	2	4	287	1	0	0	0	0	0	0	0	1	15307	697	25	2		2	ST14	11	130069892	Silent	SNP	C	TCGA-CS-4943-01A-01D-1468-08	56240564	130069892	4936624	22	20049											
HOXC13	3229	broad.mit.edu	37	chr12	54338833	54338833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctaccggcgcgggcgcaaGaaacgcgtgccctacactaa	11	4	12	14	6	0	1	0	0	0	1	0	1	0	1	2	2	5	2	2	2	5	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr12:54338833G>A	ENST00000243056.3	+	2	942	c.786G>A	c.(784-786)aaG>aaA	p.K262K		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	262						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						GCGGGCGCAAGAAACGCGTGC	0.612			T	NUP98	AML								A	54338833	G	A	54338833	2	1	287	1	0	0	0	0	0	0	0	1	7367	933	33	2		2	HOXC13	12	54338833	Silent	SNP	G	TCGA-CS-4943-01A-01D-1468-08		54338833	79513062	23	20050											
TBC1D4	9882	broad.mit.edu	37	chr13	75873512	75873512	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttgcggaagccgaggTcatacatgaggaatttcagc	11	9	12	9	2	2	1	2	1	0	0	2	4	2	3	1	3	5	1	1	3	3	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr13:75873512T>A	ENST00000377636.3	-	17	3456	c.3110A>T	c.(3109-3111)gAc>gTc	p.D1037V	TBC1D4_ENST00000425511.1_Missense_Mutation_p.D201V|TBC1D4_ENST00000431480.2_Missense_Mutation_p.D1029V|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000377625.2_Missense_Mutation_p.D974V	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1037	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAAGCCGAGGTCATACATGAG	0.512													A	75873512	T	A	75873512	3	1	287	1	0	0	0	0	1	0	0	0	15722	1667	58	5	806	5	TBC1D4	13	75873512	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08		75873512	39296366	24	20051											
DOC2A	8448	broad.mit.edu	37	chr16	30018527	30018529	+	In_Frame_Del	DEL	CTT	CTT	-																															tcgaggcagatgttaaaatgCttcttctgcgaaggcttgag																								rs139431507	byFrequency	TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr16:30018527_30018529delCTT	ENST00000350119.4	-	6	809_811	c.619_621delAAG	c.(619-621)aagdel	p.K207del	DOC2A_ENST00000564979.1_In_Frame_Del_p.K207del|DOC2A_ENST00000564944.1_In_Frame_Del_p.K207del	NM_001282062.1|NM_001282063.1|NM_001282068.1|NM_003586.2	NP_001268991.1|NP_001268992.1|NP_001268997.1|NP_003577.2	Q14183	DOC2A_HUMAN	double C2-like domains, alpha	207					nervous system development|regulation of calcium ion-dependent exocytosis	cell junction|lysosome|synaptic vesicle membrane|synaptosome	calcium-dependent phospholipid binding|protein binding|transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)	9						TGTTAAAATGCTTCTTCTGCGAA	0.635													-	30018529	CTT	-	30018527	7	5	287	1	0	1	0	1	0	0	0	0	4722	796	28	0	605	0	DOC2A	16	30018527	In_Frame_Del	DEL	CTT	TCGA-CS-4943-01A-01D-1468-08		30018527	60336226	25	20052											
PLCG2	5336	broad.mit.edu	37	chr16	81969947	81969947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttccgcctctggctgtgcGgttctcagatggtggcactc	3	12	12	14	2	2	1	1	0	2	1	5	1	3	1	3	4	1	3	3	4	0	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr16:81969947G>A	ENST00000359376.3	+	27	3230	c.3016G>A	c.(3016-3018)Ggt>Agt	p.G1006S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1006	PI-PLC Y-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGGCTGTGCGGTTCTCAGAT	0.572													A	81969947	G	A	81969947	3	1	287	1	0	0	0	0	1	0	0	0	12113	1116	39	1	3118	1	PLCG2	16	81969947	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	51951420	81969947	8384806	26	20053											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	287	1	0	0	0	0	1	0	0	0	16482	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		7577548	73617662	27	20054											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	287	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08	642	7578190	73617020	28	20055											
CDRT1	374286	broad.mit.edu	37	chr17	15496762	15496762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggatcttgccatctgcaCaggcgctgatgacccggagg	7	9	13	12	3	2	2	0	2	2	0	3	4	2	4	2	4	2	2	2	4	0	2			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:15496762C>T	ENST00000395906.3	-	11	1894	c.1895G>A	c.(1894-1896)tGt>tAt	p.C632Y	CDRT1_ENST00000354433.3_Missense_Mutation_p.C132Y|CDRT1_ENST00000583965.1_Intron|RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	632										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GCCATCTGCACAGGCGCTGAT	0.498													T	15496762	C	T	15496762	3	4	287	1	0	0	0	0	1	0	0	0	3204	478	17	2	371	2	CDRT1	17	15496762	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08	7918572	15496762	65698448	29	20056											
DDX5	1655	broad.mit.edu	37	chr17	62498302	62498302	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagaacccagtcacgctcTtgttgactcttgtcaccatg	8	14	7	12	1	4	2	2	1	2	1	4	2	4	2	2	0	1	2	2	0	2	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr17:62498302T>G	ENST00000225792.5	-	10	1535	c.1134A>C	c.(1132-1134)caA>caC	p.Q378H	DDX5_ENST00000578804.1_Missense_Mutation_p.Q378H|DDX5_ENST00000450599.2_Missense_Mutation_p.Q299H	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	378	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			AGTCACGCTCTTGTTGACTCT	0.378			T	ETV4	prostate								G	62498302	T	G	62498302	3	3	287	1	0	0	0	0	1	0	0	0	4401	1606	56	5	726	5	DDX5	17	62498302	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08	47001540	62498302	18696908	30	20057											
RYR1	6261	broad.mit.edu	37	chr19	39070725	39070725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgccatgggggtcaagaCgctgcgcaccatcctgtcct	7	8	11	15	3	1	1	1	0	0	1	4	1	3	1	4	2	1	2	4	2	1	0	rs148540135		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr19:39070725C>T	ENST00000355481.4	+	99	14584	c.14453C>T	c.(14452-14454)aCg>aTg	p.T4818M	RYR1_ENST00000360985.3_Missense_Mutation_p.T4818M|RYR1_ENST00000359596.3_Missense_Mutation_p.T4823M	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4823					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGGGTCAAGACGCTGCGCACC	0.597													T	39070725	C	T	39070725	3	4	287	1	0	0	0	0	1	0	0	0	13859	536	19	1	14866	1	RYR1	19	39070725	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		39070725	20058258	31	20058											
RYR1	6261	broad.mit.edu	37	chr19	39071043	39071043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccttctggcggtggtcGtctacctgtacaccgtggtg	3	12	15	11	3	2	0	0	0	2	0	3	0	2	0	3	5	2	1	3	5	2	3	rs118192168		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr19:39071043G>T	ENST00000355481.4	+	100	14661	c.14530G>T	c.(14530-14532)Gtc>Ttc	p.V4844F	RYR1_ENST00000360985.3_Missense_Mutation_p.V4844F|RYR1_ENST00000359596.3_Missense_Mutation_p.V4849F	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4849					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGCGGTGGTCGTCTACCTGTA	0.602													T	39071043	G	T	39071043	3	4	287	1	0	0	0	0	1	0	0	0	13859	1145	40	4	14947	4	RYR1	19	39071043	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08	318	39071043	20057940	32	20059											
SULF2	55959	broad.mit.edu	37	chr20	46291893	46291893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggaaattgtgagtctcaTtgatggtcctcatgcaccag	11	11	11	8	0	2	3	2	2	1	1	4	4	3	4	2	2	1	1	2	2	1	2	rs145371797		TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr20:46291893T>C	ENST00000359930.4	-	17	3142	c.2291A>G	c.(2290-2292)aAt>aGt	p.N764S	SULF2_ENST00000467815.1_Missense_Mutation_p.N764S|SULF2_ENST00000484875.1_Missense_Mutation_p.N764S|SULF2_ENST00000361612.4_Missense_Mutation_p.N764S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	764					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GTGAGTCTCATTGATGGTCCT	0.517											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	46291893	T	C	46291893	3	2	287	1	0	0	0	0	1	0	0	0	15467	1493	52	3	341	3	SULF2	20	46291893	Missense_Mutation	SNP	T	TCGA-CS-4943-01A-01D-1468-08		46291893	16733627	33	20060											
USP25	29761	broad.mit.edu	37	chr21	17238647	17238647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataaaacctgaagaagtaaActtggaggaatatgaggtaa	19	8	11	3	0	0	3	0	2	0	1	0	6	0	5	1	3	2	2	1	3	9	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr21:17238647A>G	ENST00000285681.2	+	21	3044	c.2675A>G	c.(2674-2676)aAc>aGc	p.N892S	USP25_ENST00000285679.6_Missense_Mutation_p.N860S|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Missense_Mutation_p.N930S	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	860					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAAGTAAACTTGGAGGAA	0.358													G	17238647	A	G	17238647	3	3	287	1	0	0	0	0	1	0	0	0	17158	43	2	3	2657	3	USP25	21	17238647	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08		17238647	30891248	34	20061											
RTDR1	27156	broad.mit.edu	37	chr22	23404005	23404005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcagtgatcactgtggCgaacatcagggcaccggcag	10	7	12	12	2	3	1	3	1	0	0	3	2	3	1	2	3	1	2	2	3	1	1			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr22:23404005C>T	ENST00000216036.4	-	6	968	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	258							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		ATCACTGTGGCGAACATCAGG	0.587													T	23404005	C	T	23404005	3	4	287	1	0	0	0	0	1	0	0	0	13810	768	27	1	282	1	RTDR1	22	23404005	Missense_Mutation	SNP	C	TCGA-CS-4943-01A-01D-1468-08		23404005	27900561	35	20062											
FBXO7	25793	broad.mit.edu	37	chr22	32879927	32879927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgagtcaattcaagataAtgcgcatatggcagagggca	14	8	12	7	1	2	3	2	1	0	2	2	3	2	3	0	2	2	4	0	2	4	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chr22:32879927A>G	ENST00000266087.7	+	3	788	c.461A>G	c.(460-462)aAt>aGt	p.N154S	FBXO7_ENST00000397426.1_Missense_Mutation_p.N40S|FBXO7_ENST00000382058.3_Missense_Mutation_p.N75S	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	154					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATTCAAGATAATGCGCATATG	0.383													G	32879927	A	G	32879927	3	3	287	1	0	0	0	0	1	0	0	0	5809	101	4	3	512	3	FBXO7	22	32879927	Missense_Mutation	SNP	A	TCGA-CS-4943-01A-01D-1468-08	9475922	32879927	18424639	36	20063											
ATRX	546	broad.mit.edu	37	chrX	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagcccacttcttccttGactgtgcagtagtggaacca	8	12	8	13	0	2	1	1	1	1	0	3	2	3	2	3	1	3	2	3	1	2	5			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrX:76829760G>C	ENST00000373344.5	-	28	6495	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2094	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)	CTTCTTCCTTGACTGTGCAGT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76829760	G	C	76829760	4	2	287	1	0	0	0	0	0	1	0	0	1213	1294	45	4	1229	4	ATRX	23	76829760	Nonsense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		76829760	78440800	37	20064											
ATRX	546	broad.mit.edu	37	chrX	76938044	76938044	+	Frame_Shift_Del	DEL	T	T	-																															aagtcgatctcttaattccaTgatggtcgtgtctttatcaa																										TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrX:76938044delT	ENST00000373344.5	-	9	2918	c.2704delA	c.(2704-2706)atgfs	p.M902fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.M864fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	902					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)	CTTAATTCCATGATGGTCGTG	0.428			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938044	T	-	76938044	7	5	287	1	0	1	0	1	0	0	0	0	1213	1464	51	0	4882	0	ATRX	23	76938044	Frame_Shift_Del	DEL	T	TCGA-CS-4943-01A-01D-1468-08	108284	76938044	78332516	38	20065											
PCDH11Y	83259	broad.mit.edu	37	chrY	5369105	5369105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctttcagtcccagcGgcgtgtcacatttcacctgc	5	13	7	16	2	4	0	3	0	1	0	6	0	5	0	3	1	2	0	3	1	0	3			TCGA-CS-4943-01A-01D-1468-08	TCGA-CS-4943-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14627ffd-642c-42b5-9d95-ad436c9b1d35	0d4a92bf-0624-4dfa-9d95-8f91a693ea3f	g.chrY:5369105G>T	ENST00000215473.6	+	3	3137	c.3137G>T	c.(3136-3138)cGg>cTg	p.R1046L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1046					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CAGTCCCAGCGGCGTGTCACA	0.473													T	5369105	G	T	5369105	3	4	287	1	0	0	0	0	1	0	0	0	11585	1116	39	4	3205	4	PCDH11Y	24	5369105	Missense_Mutation	SNP	G	TCGA-CS-4943-01A-01D-1468-08		5369105	54004461	39	20066											
CDC42BPA	8476	broad.mit.edu	37	chr1	227348328	227348328	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatcagtatattgtcaggTttaatgtctctgaaaaaata	14	15	6	6	0	3	1	2	1	1	0	5	1	4	1	1	1	0	2	1	1	7	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:227348328T>C	ENST00000366769.3	-	6	1900	c.609A>G	c.(607-609)aaA>aaG	p.K203K	CDC42BPA_ENST00000366765.3_Silent_p.K203K|CDC42BPA_ENST00000535525.1_Silent_p.K203K|CDC42BPA_ENST00000366766.2_Silent_p.K203K|CDC42BPA_ENST00000366767.3_Silent_p.K203K|CDC42BPA_ENST00000334218.5_Silent_p.K203K|CDC42BPA_ENST00000366764.2_Silent_p.K203K	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	203	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TATTGTCAGGTTTAATGTCTC	0.284													C	227348328	T	C	227348328	2	2	288	1	0	0	0	0	0	0	0	1	3102	1722	60	3		3	CDC42BPA	1	227348328	Silent	SNP	T	TCGA-CS-4944-01A-01D-1468-08		227348328	21902293	1	20067											
OR14A16	284532	broad.mit.edu	37	chr1	247978653	247978653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgacatcatagtgcagagGgtgacatatagcagtatagc	14	9	12	6	0	1	3	1	2	0	1	1	4	1	3	0	1	3	3	0	1	5	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr1:247978653G>T	ENST00000357627.1	-	1	378	c.379C>A	c.(379-381)Cct>Act	p.P127T		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TAGTGCAGAGGGTGACATATA	0.512													T	247978653	G	T	247978653	3	4	288	1	0	0	0	0	1	0	0	0	11021	1232	43	4	554	4	OR14A16	1	247978653	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08	20630325	247978653	1271968	2	20068											
FAM179A	165186	broad.mit.edu	37	chr2	29247207	29247207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaatgtgacccttgcccGctccctggtggtcctcacct	5	10	11	15	1	1	2	1	1	0	1	3	3	3	2	5	3	1	1	5	3	1	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:29247207G>A	ENST00000379558.4	+	13	2171	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Missense_Mutation_p.R552H	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	607							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACCCTTGCCCGCTCCCTGGTG	0.627													A	29247207	G	A	29247207	3	1	288	1	0	0	0	0	1	0	0	0	5550	1087	38	1	1866	1	FAM179A	2	29247207	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08		29247207	213952166	3	20069											
WDR75	84128	broad.mit.edu	37	chr2	190313123	190313123	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtatatcttctgtgtctcTggagactttgttaaagttta	9	18	9	5	0	3	1	0	0	3	1	4	2	3	1	0	2	0	3	0	2	5	7			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:190313123T>C	ENST00000314761.4	+	2	165	c.105T>C	c.(103-105)tcT>tcC	p.S35S		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	35						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGTGTCTCTGGAGACTTTG	0.368													C	190313123	T	C	190313123	2	2	288	1	0	0	0	0	0	0	0	1	17427	1567	55	3		3	WDR75	2	190313123	Silent	SNP	T	TCGA-CS-4944-01A-01D-1468-08	161065916	190313123	52886250	4	20070											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	288	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	18799989	209113112	34086261	5	20071											
COL6A3	1293	broad.mit.edu	37	chr2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggacgccctcttcaatgCggctccccaggggcctcttg	4	8	13	16	3	3	0	1	0	2	0	4	1	4	1	4	4	1	1	4	4	1	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr2:238280668C>T	ENST00000295550.4	-	9	4444	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1331	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632													T	238280668	C	T	238280668	3	4	288	1	0	0	0	0	1	0	0	0	3732	768	27	1	5732	1	COL6A3	2	238280668	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	29167556	238280668	4918705	6	20072											
PDHB	5162	broad.mit.edu	37	chr3	58413838	58413838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtcctctagaatctttgCataaggcatagggacatcag	11	12	10	8	0	3	1	1	0	2	1	4	2	4	2	1	2	1	3	1	2	4	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:58413838C>A	ENST00000302746.6	-	10	1045	c.1003G>T	c.(1003-1005)Gca>Tca	p.A335S	PDHB_ENST00000474765.1_3'UTR|PDHB_ENST00000485460.1_Missense_Mutation_p.A317S	NM_000925.3|NM_001173468.1	NP_000916.2|NP_001166939.1	P11177	ODPB_HUMAN	pyruvate dehydrogenase (lipoamide) beta	335					glycolysis|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	9				BRCA - Breast invasive adenocarcinoma(55;0.000179)|Kidney(10;0.00231)|KIRC - Kidney renal clear cell carcinoma(10;0.00258)|OV - Ovarian serous cystadenocarcinoma(275;0.187)	NADH(DB00157)|Pyruvic acid(DB00119)	AGAATCTTTGCATAAGGCATA	0.418													A	58413838	C	A	58413838	3	1	288	1	0	0	0	0	1	0	0	0	11742	710	25	4	80	4	PDHB	3	58413838	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		58413838	139608592	7	20073											
SLC25A36	55186	broad.mit.edu	37	chr3	140682063	140682063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacatatgatttcagctgcaAtggcaggtatgaatgtataa	14	13	9	5	0	1	2	1	2	0	0	1	2	1	2	0	2	3	5	0	2	7	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr3:140682063A>G	ENST00000446041.2	+	4	604	c.379A>G	c.(379-381)Atg>Gtg	p.M127V	SLC25A36_ENST00000453248.2_Missense_Mutation_p.M101V|SLC25A36_ENST00000507429.1_Missense_Mutation_p.M127V|SLC25A36_ENST00000324194.6_Missense_Mutation_p.M127V|SLC25A36_ENST00000393015.4_3'UTR	NM_001104647.1|NM_018155.2	NP_001098117.1|NP_060625.2	Q96CQ1	S2536_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier ), member 36	127					response to estradiol stimulus|transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			endometrium(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6						TTCAGCTGCAATGGCAGGTAT	0.289													G	140682063	A	G	140682063	3	3	288	1	0	0	0	0	1	0	0	0	14594	101	4	3	393	3	SLC25A36	3	140682063	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08	82268225	140682063	57340367	8	20074											
UGT2A3	79799	broad.mit.edu	37	chr4	69795535	69795535	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatttggaaagatctatTccctcttttctatctttcta	9	20	4	8	0	5	2	0	1	5	1	6	3	6	3	1	1	0	0	1	1	5	9			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr4:69795535T>C	ENST00000251566.4	-	6	1610	c.1580A>G	c.(1579-1581)gAa>gGa	p.E527G	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238G	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAAGATCTATTCCCTCTTTTC	0.328													C	69795535	T	C	69795535	3	2	288	1	0	0	0	0	1	0	0	0	17057	1783	62	3	7	3	UGT2A3	4	69795535	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		69795535	121358741	9	20075											
PIK3R1	5295	broad.mit.edu	37	chr5	67522794	67522795	+	Frame_Shift_Ins	INS	-	-	G																															cacctcggcctcttcctgttINSgcaccaggttcttcgaaaac																										TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr5:67522794_67522795insG	ENST00000521381.1	+	2	907_908	c.291_292insG	c.(292-294)gcafs	p.A98fs	PIK3R1_ENST00000274335.5_Frame_Shift_Ins_p.A98fs|PIK3R1_ENST00000521657.1_Frame_Shift_Ins_p.A98fs|PIK3R1_ENST00000396611.1_Frame_Shift_Ins_p.A98fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	98					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTCTTCCTGTTGCACCAGGTTC	0.455			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67522795	-	G	67522794	7	5	288	1	0	1	1	0	0	0	0	0	11995	1799	63	0	293	0	PIK3R1	5	67522794	Frame_Shift_Ins	INS	-	TCGA-CS-4944-01A-01D-1468-08		67522794	113392466	10	20076											
ZNF12	7559	broad.mit.edu	37	chr7	6737039	6737039	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccttgctccaacttgctgaTaacatccggtttgataatgt	9	15	7	10	1	0	2	0	2	0	0	3	2	3	2	3	1	4	3	3	1	3	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:6737039T>A	ENST00000405858.1	-	4	710	c.169A>T	c.(169-171)Atc>Ttc	p.I57F	AC073343.13_ENST00000366167.2_RNA|ZNF12_ENST00000342651.5_Missense_Mutation_p.I57F|ZNF12_ENST00000404360.1_Missense_Mutation_p.I21F	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	57	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACTTGCTGATAACATCCGGT	0.463													A	6737039	T	A	6737039	3	1	288	1	0	0	0	0	1	0	0	0	17819	1406	49	5	1932	5	ZNF12	7	6737039	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		6737039	152401624	11	20077											
DLX5	1749	broad.mit.edu	37	chr7	96651642	96651642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacgaactttctttggtttgCcattcaccattctcacctcg	7	16	5	13	2	3	0	2	0	2	0	5	1	3	0	3	1	3	1	3	1	2	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr7:96651642C>A	ENST00000222598.4	-	2	868	c.395G>T	c.(394-396)gGc>gTc	p.G132V	DLX5_ENST00000486603.2_Missense_Mutation_p.G132V|DLX5_ENST00000493764.1_Intron	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	132					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTTTGGTTTGCCATTCACCAT	0.463													A	96651642	C	A	96651642	3	1	288	1	0	0	0	0	1	0	0	0	4613	739	26	4	482	4	DLX5	7	96651642	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	89914603	96651642	62487021	12	20078											
FAM83H	286077	broad.mit.edu	37	chr8	144808629	144808629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggcccagtgacagaCgccgcgggctctcgggttgg	5	6	15	15	4	1	2	0	1	1	1	2	2	1	2	3	4	0	2	3	4	0	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr8:144808629C>T	ENST00000388913.3	-	5	3127	c.3002G>A	c.(3001-3003)cGt>cAt	p.R1001H		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1001					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CAGTGACAGACGCCGCGGGCT	0.697													T	144808629	C	T	144808629	3	4	288	1	0	0	0	0	1	0	0	0	5690	536	19	1	541	1	FAM83H	8	144808629	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		144808629	1555393	13	20079											
KDM4C	23081	broad.mit.edu	37	chr9	7128074	7128075	+	Frame_Shift_Del	DEL	GG	GG	-																															cccttcttttagaagtccaaGgcttgcgagaaggtcatttc																										TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr9:7128074_7128075delGG	ENST00000381309.3	+	19	3184_3185	c.2619_2620delGG	c.(2617-2622)aaggctfs	p.KA873fs	KDM4C_ENST00000428870.2_Frame_Shift_Del_p.KA560fs|KDM4C_ENST00000381306.3_Frame_Shift_Del_p.KA873fs|KDM4C_ENST00000442236.2_Frame_Shift_Del_p.KA618fs|KDM4C_ENST00000536108.1_3'UTR	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	873					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGAAGTCCAAGGCTTGCGAGAA	0.411													-	7128075	GG	-	7128074	7	5	288	1	0	1	0	1	0	0	0	0	8188	991	35	0	2781	0	KDM4C	9	7128074	Frame_Shift_Del	DEL	GG	TCGA-CS-4944-01A-01D-1468-08		7128074	134085357	14	20080											
SFMBT2	57713	broad.mit.edu	37	chr10	7214050	7214050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtccgtctggtcatccCggagctcggagccggtctcc	4	9	14	14	4	3	0	1	0	2	0	7	2	5	2	4	5	2	1	4	5	0	0			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:7214050C>T	ENST00000361972.4	-	19	2312	c.2222G>A	c.(2221-2223)cGg>cAg	p.R741Q	SFMBT2_ENST00000397167.1_Missense_Mutation_p.R741Q	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	741					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CTGGTCATCCCGGAGCTCGGA	0.692													T	7214050	C	T	7214050	3	4	288	1	0	0	0	0	1	0	0	0	14251	652	23	1	474	1	SFMBT2	10	7214050	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		7214050	128320697	15	20081											
KIF20B	9585	broad.mit.edu	37	chr10	91477448	91477448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgactctgggaaagtgtAttaacgtcttgaagaatagt	13	14	10	4	1	2	3	0	2	2	1	2	4	2	4	0	1	1	1	0	1	7	6			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:91477448A>G	ENST00000416354.1	+	11	1312	c.1240A>G	c.(1240-1242)Att>Gtt	p.I414V	KIF20B_ENST00000260753.4_Missense_Mutation_p.I414V|KIF20B_ENST00000394289.2_Missense_Mutation_p.I414V|KIF20B_ENST00000371728.3_Missense_Mutation_p.I414V			Q96Q89	KI20B_HUMAN	kinesin family member 20B	414					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						GGGAAAGTGTATTAACGTCTT	0.313													G	91477448	A	G	91477448	3	3	288	1	0	0	0	0	1	0	0	0	8345	449	16	3	1278	3	KIF20B	10	91477448	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08	84263398	91477448	44057299	16	20082											
LCOR	84458	broad.mit.edu	37	chr10	98709000	98709000	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatggctgaccaagaCtcacctctggaccttactgt	8	12	7	14	0	3	2	2	1	2	1	4	3	3	3	3	2	1	1	3	2	2	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr10:98709000C>G	ENST00000540664.1	+	6	729	c.186C>G	c.(184-186)gaC>gaG	p.D62E	LCOR_ENST00000371097.4_Missense_Mutation_p.D62E|LCOR_ENST00000371103.3_Missense_Mutation_p.D62E|LCOR_ENST00000356016.3_Missense_Mutation_p.D62E|LCOR_ENST00000498444.1_3'UTR	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		CTGACCAAGACTCACCTCTGG	0.483													G	98709000	C	G	98709000	3	3	288	1	0	0	0	0	1	0	0	0	8748	564	20	4	188	4	LCOR	10	98709000	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08	7231552	98709000	36825747	17	20083											
PTPN5	84867	broad.mit.edu	37	chr11	18754164	18754164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagatgagtcgcagccggTaatcctccgtgtgaatgact	9	9	14	9	3	0	4	0	3	0	1	3	5	2	4	3	2	1	2	3	2	2	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr11:18754164T>C	ENST00000396170.1	-	12	2472	c.1208A>G	c.(1207-1209)tAc>tGc	p.Y403C	PTPN5_ENST00000358540.2_Missense_Mutation_p.Y435C|RP11-1081L13.4_ENST00000527285.1_RNA|PTPN5_ENST00000396168.1_Missense_Mutation_p.Y411C|PTPN5_ENST00000396171.4_Missense_Mutation_p.Y435C|PTPN5_ENST00000477854.1_Missense_Mutation_p.Y239C|PTPN5_ENST00000396167.2_Missense_Mutation_p.Y403C	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	435	Tyrosine-protein phosphatase.					integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						TCGCAGCCGGTAATCCTCCGT	0.592											OREG0020824	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	18754164	T	C	18754164	3	2	288	1	0	0	0	0	1	0	0	0	12879	1638	57	3	409	3	PTPN5	11	18754164	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		18754164	116252352	18	20084											
CLIP1	6249	broad.mit.edu	37	chr12	122758652	122758652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcatctccaccttcaTcttgaggtcttgattcttcc	7	16	5	13	0	6	3	2	3	4	0	8	3	7	3	3	1	0	0	3	1	0	5			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr12:122758652T>C	ENST00000358808.2	-	24	4145	c.3991A>G	c.(3991-3993)Atg>Gtg	p.M1331V	CLIP1_ENST00000540338.1_Missense_Mutation_p.M1342V|CLIP1_ENST00000361654.4_Missense_Mutation_p.M1220V|CLIP1_ENST00000545889.1_Missense_Mutation_p.M917V|CLIP1_ENST00000537178.1_Missense_Mutation_p.M1296V|CLIP1_ENST00000536634.1_5'UTR|CLIP1_ENST00000540539.1_Missense_Mutation_p.M21V|CLIP1_ENST00000302528.7_Missense_Mutation_p.M1331V	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1342					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TCCACCTTCATCTTGAGGTCT	0.343													C	122758652	T	C	122758652	3	2	288	1	0	0	0	0	1	0	0	0	3563	1435	50	3	300	3	CLIP1	12	122758652	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		122758652	11093243	19	20085											
SMOC1	64093	broad.mit.edu	37	chr14	70490099	70490099	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtttcaccgactactgtgAcctgaacaaagacaaggtca	13	8	9	11	2	2	3	2	2	0	1	2	4	2	3	2	1	2	1	2	1	4	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:70490099A>T	ENST00000381280.4	+	11	1479	c.1226A>T	c.(1225-1227)gAc>gTc	p.D409V	SMOC1_ENST00000361956.3_Missense_Mutation_p.D409V	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	409	EF-hand 2.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		GACTACTGTGACCTGAACAAA	0.522													T	70490099	A	T	70490099	3	4	288	1	0	0	0	0	1	0	0	0	14895	275	10	5	1268	5	SMOC1	14	70490099	Missense_Mutation	SNP	A	TCGA-CS-4944-01A-01D-1468-08		70490099	36859441	20	20086											
TSHR	7253	broad.mit.edu	37	chr14	81610525	81610525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggctcaggcataccgggGgcagagggttcctccaaaga	10	5	14	12	1	1	2	1	0	0	2	3	2	3	2	4	5	1	4	4	5	2	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr14:81610525G>T	ENST00000541158.2	+	11	2445	c.2123G>T	c.(2122-2124)gGg>gTg	p.G708V	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.G708V			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	708					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCATACCGGGGGCAGAGGGTT	0.498			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						T	81610525	G	T	81610525	3	4	288	1	0	0	0	0	1	0	0	0	16723	1232	43	4	2298	4	TSHR	14	81610525	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08	11120426	81610525	25739015	21	20087											
GABRG3	2567	broad.mit.edu	37	chr15	27574011	27574011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccccatggacgaacacTcctgcccgctgattttctcc	7	11	6	17	2	1	1	0	1	1	0	4	3	3	2	5	1	2	1	5	1	1	3			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr15:27574011T>C	ENST00000333743.6	+	5	804	c.550T>C	c.(550-552)Tcc>Ccc	p.S184P	GABRG3_ENST00000555083.1_Missense_Mutation_p.S184P	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	184					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GGACGAACACTCCTGCCCGCT	0.557													C	27574011	T	C	27574011	3	2	288	1	0	0	0	0	1	0	0	0	6225	1551	54	3	568	3	GABRG3	15	27574011	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		27574011	74957381	22	20088											
HPR	3250	broad.mit.edu	37	chr16	72110680	72110680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgtggctgaccaataCgattgcataacgcattatga	11	11	9	10	2	0	2	0	2	0	0	0	3	0	2	2	1	4	3	2	1	4	4			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr16:72110680C>T	ENST00000540303.2	+	5	779	c.747C>T	c.(745-747)taC>taT	p.Y249Y	HPR_ENST00000561690.1_Intron|HPR_ENST00000356967.5_Silent_p.Y249Y|HPR_ENST00000228226.8_Silent_p.Y286Y	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	249	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGACCAATACGATTGCATAA	0.507													T	72110680	C	T	72110680	2	4	288	1	0	0	0	0	0	0	0	1	7392	547	19	1		1	HPR	16	72110680	Silent	SNP	C	TCGA-CS-4944-01A-01D-1468-08		72110680	18244073	23	20089											
DMKN	93099	broad.mit.edu	37	chr19	36002345	36002345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgctgtcacctctgcTgccaccactgttgccactgc	5	10	8	18	1	2	0	1	0	1	0	2	0	2	0	5	0	5	3	5	0	0	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr19:36002345T>C	ENST00000339686.3	-	5	1062	c.886A>G	c.(886-888)Agc>Ggc	p.S296G	DMKN_ENST00000424570.2_Missense_Mutation_p.S296G|DMKN_ENST00000451297.2_Missense_Mutation_p.S296G|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000440396.1_Missense_Mutation_p.S296G|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000418261.1_Missense_Mutation_p.S296G|DMKN_ENST00000447113.2_Missense_Mutation_p.S296G	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	296	Gly-rich.					extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TCACCTctgctgccaccactg	0.647													C	36002345	T	C	36002345	3	2	288	1	0	0	0	0	1	0	0	0	4621	1580	55	3	909	3	DMKN	19	36002345	Missense_Mutation	SNP	T	TCGA-CS-4944-01A-01D-1468-08		36002345	23126638	24	20090											
COL18A1	80781	broad.mit.edu	37	chr21	46925852	46925852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaggagctctacgtccGcgtgcagaacgggttccgga	8	6	16	11	5	1	1	0	0	1	1	3	4	3	4	2	4	4	4	2	4	2	2			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chr21:46925852G>A	ENST00000359759.4	+	36	4454	c.4433G>A	c.(4432-4434)cGc>cAc	p.R1478H	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.R1063H|COL18A1_ENST00000355480.5_Missense_Mutation_p.R1243H			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1478	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTCTACGTCCGCGTGCAGAAC	0.667													A	46925852	G	A	46925852	3	1	288	1	0	0	0	0	1	0	0	0	3706	1087	38	1	4684	1	COL18A1	21	46925852	Missense_Mutation	SNP	G	TCGA-CS-4944-01A-01D-1468-08		46925852	1204043	25	20091											
SLC7A3	84889	broad.mit.edu	37	chrX	70148834	70148834	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagcagagctccaggccCgggccacactggctgtacct	10	5	11	15	1	0	1	0	0	0	1	1	1	1	1	4	3	3	4	4	3	3	1			TCGA-CS-4944-01A-01D-1468-08	TCGA-CS-4944-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	471d39e4-2d0b-4f56-8e98-216f5a1baf5d	c4d192e1-a280-4ca9-963d-dc5efaacb683	g.chrX:70148834C>A	ENST00000374299.3	-	3	533	c.389G>T	c.(388-390)cGg>cTg	p.R130L	SLC7A3_ENST00000298085.4_Missense_Mutation_p.R130L			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	130					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTCCAGGCCCGGGCCACACT	0.547													A	70148834	C	A	70148834	3	1	288	1	0	0	0	0	1	0	0	0	14792	652	23	4	1510	4	SLC7A3	23	70148834	Missense_Mutation	SNP	C	TCGA-CS-4944-01A-01D-1468-08		70148834	85121726	26	20092											
AGMAT	79814	broad.mit.edu	37	chr1	15904231	15904231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgtccctggcgcataGgcaggatccagagcgtcaat	8	8	12	13	2	1	1	1	0	0	1	4	2	4	2	3	3	1	2	3	3	2	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:15904231G>A	ENST00000375826.3	-	5	991	c.849C>T	c.(847-849)gcC>gcT	p.A283A	DNAJC16_ENST00000483270.1_Intron	NM_024758.4	NP_079034.3	Q9BSE5	SPEB_HUMAN	agmatine ureohydrolase (agmatinase)	283					putrescine biosynthetic process|spermidine biosynthetic process	mitochondrion	agmatinase activity|metal ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(2)|skin(1)	12		Breast(348;0.000207)|Colorectal(325;0.000258)|Lung NSC(340;0.000359)|all_lung(284;0.000486)|Renal(390;0.000518)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.93e-07)|COAD - Colon adenocarcinoma(227;3.91e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000121)|KIRC - Kidney renal clear cell carcinoma(229;0.00257)|STAD - Stomach adenocarcinoma(313;0.00734)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGCGCATAGGCAGGATCCA	0.527													A	15904231	G	A	15904231	2	1	289	1	0	0	0	0	0	0	0	1	385	987	35	2		2	AGMAT	1	15904231	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		15904231	233346390	1	20093											
HOOK1	51361	broad.mit.edu	37	chr1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaagcaaatgcagcacGtacacaattagaaacataca	23	5	5	8	1	0	1	0	0	0	1	0	1	0	1	0	0	6	4	0	0	9	3	rs143143349		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													A	60314160	G	A	60314160	3	1	289	1	0	0	0	0	1	0	0	0	7337	1145	40	1	1145	1	HOOK1	1	60314160	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	44409929	60314160	188936461	2	20094											
SERBP1	26135	broad.mit.edu	37	chr1	67895672	67895675	+	Splice_Site	DEL	TTCT	TTCT	-																															cattctgcccctgctttaccTtctttcttaagcgccacggg																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:67895672_67895675delTTCT	ENST00000370994.4	-	1	423_426	c.309_312delAGAA	c.(307-312)aaagaa>aa	p.KE103fs	SERBP1_ENST00000361219.6_Splice_Site_p.KE103fs|SERBP1_ENST00000370995.2_Splice_Site_p.KE103fs|SERBP1_ENST00000370990.5_Splice_Site_p.KE103fs	NM_001018067.1|NM_001018068.1|NM_001018069.1|NM_015640.3	NP_001018077.1|NP_001018078.1|NP_001018079.1|NP_056455.3	Q8NC51	PAIRB_HUMAN	SERPINE1 mRNA binding protein 1	103					regulation of mRNA stability	nucleus|perinuclear region of cytoplasm	mRNA 3'-UTR binding|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	13						CTGCTTTACCTTCTTTCTTAAGCG	0.632													-	67895675	TTCT	-	67895672	8	5	289	1	0	1	0	1	0	0	1	0	14168	1623	56	0	946	0	SERBP1	1	67895672	Splice_Site	DEL	TTCT	TCGA-CS-5390-01A-02D-1468-08	7581512	67895672	181354949	3	20095											
LRRC7	57554	broad.mit.edu	37	chr1	70452024	70452024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgaagcccttgaggacCtcttattgtcatccaatatg	10	13	9	9	0	2	2	1	2	1	0	3	4	3	3	3	1	1	0	3	1	4	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:70452024C>T	ENST00000310961.5	+	11	1205	c.787C>T	c.(787-789)Ctc>Ttc	p.L263F	LRRC7_ENST00000415775.2_5'UTR|LRRC7_ENST00000035383.5_Missense_Mutation_p.L258F			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	258						centrosome|focal adhesion|nucleolus	protein binding	p.L258I(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCTTGAGGACCTCTTATTGTC	0.328													T	70452024	C	T	70452024	3	4	289	1	0	0	0	0	1	0	0	0	9090	681	24	2	802	2	LRRC7	1	70452024	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	2556352	70452024	178798597	4	20096											
FUBP1	8880	broad.mit.edu	37	chr1	78430845	78430845	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaactgcatttcccggtcCatcgccatgatggaagccag	9	10	10	12	2	0	2	0	2	0	0	3	3	2	3	4	2	3	1	4	2	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:78430845C>A	ENST00000370767.1	-	8	631	c.544G>T	c.(544-546)Gga>Tga	p.G182*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G182*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G203*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	182					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTCCCGGTCCATCGCCATGA	0.408			"F, N"		oligodendroglioma								A	78430845	C	A	78430845	4	1	289	1	0	0	0	0	0	1	0	0	6144	603	21	4	1442	4	FUBP1	1	78430845	Nonsense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	7978821	78430845	170819776	5	20097											
NRAS	4893	broad.mit.edu	37	chr1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcactgtactcttcttGtccagctgtatccagtatgt	7	15	8	11	0	2	0	0	0	2	0	4	0	4	0	2	1	2	5	2	1	3	5	rs121913254		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			T	115256530	G	T	115256530	3	4	289	1	0	0	0	0	1	0	0	0	10716	1386	48	4	400	4	NRAS	1	115256530	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	36825685	115256530	133994091	6	20098											
INO80B	83444	broad.mit.edu	37	chr2	74682279	74682279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcgtgggagcacctctggGgctatggaggcccctgagcc	5	6	17	13	2	1	1	0	1	1	0	1	3	1	3	4	6	2	2	4	6	1	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:74682279G>A	ENST00000233331.7	+	1	130	c.36G>A	c.(34-36)ggG>ggA	p.G12G	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_Silent_p.G12G	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	12					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GCACCTCTGGGGCTATGGAGG	0.572													A	74682279	G	A	74682279	2	1	289	1	0	0	0	0	0	0	0	1	7805	1219	43	2		2	INO80B	2	74682279	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		74682279	168517094	7	20099											
KCNH7	90134	broad.mit.edu	37	chr2	163693238	163693238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgcaataaatgatggcaCagttctgcactctggcattt	10	13	9	9	1	2	1	0	1	2	0	2	1	2	1	0	2	2	6	0	2	3	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:163693238C>T	ENST00000332142.5	-	2	215	c.116G>A	c.(115-117)tGt>tAt	p.C39Y	KCNH7_ENST00000328032.4_Missense_Mutation_p.C39Y	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	39					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AATGATGGCACAGTTCTGCAC	0.423													T	163693238	C	T	163693238	3	4	289	1	0	0	0	0	1	0	0	0	8095	478	17	2	3600	2	KCNH7	2	163693238	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	89010959	163693238	79506135	8	20100											
UBR3	130507	broad.mit.edu	37	chr2	170929938	170929940	+	Splice_Site	DEL	GAA	GAA	-																															tcctatttcatgtctaaaagGaagaagaagaattttcagtt																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:170929938_170929940delGAA	ENST00000272793.5	+	36	5070_5072	c.5020_5022delGAA	c.(5020-5022)gaadel	p.E1677del	UBR3_ENST00000418381.1_Splice_Site_p.E1677del|UBR3_ENST00000392631.1_Splice_Site_p.E498del			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1677					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TGTCTAAAAGGAAGAAGAAGAAT	0.379													-	170929940	GAA	-	170929938	8	5	289	1	0	1	0	1	0	0	1	0	17005	1188	41	0	5162	0	UBR3	2	170929938	Splice_Site	DEL	GAA	TCGA-CS-5390-01A-02D-1468-08	7236700	170929938	72269435	9	20101											
MSTN	2660	broad.mit.edu	37	chr2	190927295	190927295	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcagcataaacaggtaaaTataaacacagagttgcagtt	19	9	7	6	0	1	1	1	0	0	1	1	1	1	1	0	1	4	5	0	1	8	6			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:190927295T>G	ENST00000260950.4	-	1	160	c.28A>C	c.(28-30)Att>Ctt	p.I10L	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	10					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			AACAGGTAAATATAAACACAG	0.323													G	190927295	T	G	190927295	3	3	289	1	0	0	0	0	1	0	0	0	9969	1406	49	5	1111	5	MSTN	2	190927295	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	19997357	190927295	52272078	10	20102											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	289	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	18185817	209113112	34086261	11	20103											
ALPP	250	broad.mit.edu	37	chr2	233244328	233244328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttgagtgcagccgccCgctttaaccagtgcaacacg	8	9	11	13	3	0	1	0	1	0	0	0	1	0	1	3	1	5	4	3	1	2	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr2:233244328C>T	ENST00000392027.2	+	4	684	c.415C>T	c.(415-417)Cgc>Tgc	p.R139C		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	139						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		TGCAGCCGCCCGCTTTAACCA	0.607													T	233244328	C	T	233244328	3	4	289	1	0	0	0	0	1	0	0	0	548	652	23	1	429	1	ALPP	2	233244328	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	24131216	233244328	9955045	12	20104											
ATP2B2	491	broad.mit.edu	37	chr3	10381974	10381974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatatgcaccacatccaCtggtccagctgcagtggaga	12	8	10	11	0	0	2	0	1	0	1	2	3	2	2	3	2	3	3	3	2	2	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:10381974C>A	ENST00000397077.1	-	20	3629	c.3054G>T	c.(3052-3054)caG>caT	p.Q1018H	ATP2B2_ENST00000360273.2_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000343816.4_Missense_Mutation_p.Q1049H|ATP2B2_ENST00000352432.4_Missense_Mutation_p.Q1063H|ATP2B2_ENST00000383800.4_Missense_Mutation_p.Q1018H			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1063					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						ACCACATCCACTGGTCCAGCT	0.557													A	10381974	C	A	10381974	3	1	289	1	0	0	0	0	1	0	0	0	1145	564	20	4	554	4	ATP2B2	3	10381974	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		10381974	187640456	13	20105											
APPL1	26060	broad.mit.edu	37	chr3	57302495	57302498	+	Frame_Shift_Del	DEL	AAAC	AAAC	-																															agcaacagaaagaactcaatAaacaaaaacagattgaaaag																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr3:57302495_57302498delAAAC	ENST00000288266.3	+	21	2110_2113	c.1963_1966delAAAC	c.(1963-1968)aaacaafs	p.KQ657fs	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	657					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		agaactcaataaacaaaaacagat	0.314													-	57302498	AAAC	-	57302495	7	5	289	1	0	1	0	1	0	0	0	0	820	363	13	0	2045	0	APPL1	3	57302495	Frame_Shift_Del	DEL	AAAC	TCGA-CS-5390-01A-02D-1468-08	46920521	57302495	140719935	14	20106											
SLC12A7	10723	broad.mit.edu	37	chr5	1075520	1075520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacttgtagatgcagccagCgatgagcatggcggacagcg	10	7	15	9	3	0	2	0	1	0	1	0	4	0	3	1	2	6	4	1	2	2	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:1075520C>A	ENST00000264930.5	-	15	1976	c.1933G>T	c.(1933-1935)Gct>Tct	p.A645S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	645					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)	ATGCAGCCAGCGATGAGCATG	0.637													A	1075520	C	A	1075520	3	1	289	1	0	0	0	0	1	0	0	0	14482	768	27	4	1358	4	SLC12A7	5	1075520	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		1075520	179839740	15	20107											
DNAH5	1767	broad.mit.edu	37	chr5	13719099	13719099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttatgagcctcggtggTcatccagaggcggaacgcat	8	9	13	11	3	1	2	1	1	0	1	3	3	2	3	2	4	3	2	2	4	2	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13719099T>C	ENST00000265104.4	-	72	12495	c.12391A>G	c.(12391-12393)Acc>Gcc	p.T4131A		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4131	AAA 6 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTCGGTGGTCATCCAGAGG	0.473									Kartagener syndrome				C	13719099	T	C	13719099	3	2	289	1	0	0	0	0	1	0	0	0	4643	1667	58	3	1515	3	DNAH5	5	13719099	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	12643579	13719099	167196161	16	20108											
DNAH5	1767	broad.mit.edu	37	chr5	13841810	13841810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatacactgacctgagcaggGaaggatgaaagaaattcagt	17	7	11	6	0	1	4	1	3	0	1	1	6	1	6	1	2	2	1	1	2	5	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:13841810G>A	ENST00000265104.4	-	33	5579	c.5475C>T	c.(5473-5475)ttC>ttT	p.F1825F		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1825	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCTGAGCAGGGAAGGATGAAA	0.358									Kartagener syndrome				A	13841810	G	A	13841810	2	1	289	1	0	0	0	0	0	0	0	1	4643	1165	41	2		2	DNAH5	5	13841810	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	122711	13841810	167073450	17	20109											
GPR151	134391	broad.mit.edu	37	chr5	145895373	145895374	+	Frame_Shift_Del	DEL	TT	TT	-																															ccagcctagatcccaaacacTtttggagtacgccgtagctc																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr5:145895373_145895374delTT	ENST00000311104.2	-	1	379_380	c.303_304delAA	c.(301-306)aaaagtfs	p.S102fs		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	102						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCAAACACTTTTGGAGTACG	0.515													-	145895374	TT	-	145895373	7	5	289	1	0	1	0	1	0	0	0	0	6711	1609	56	0	959	0	GPR151	5	145895373	Frame_Shift_Del	DEL	TT	TCGA-CS-5390-01A-02D-1468-08	132053563	145895373	35019887	18	20110											
FAM50B	26240	broad.mit.edu	37	chr6	3850199	3850199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaagaggttctcggcgCattacgacgccgtggaggcc	8	7	15	11	5	1	1	0	0	1	1	2	4	1	3	2	5	1	2	2	5	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:3850199C>T	ENST00000380274.1	+	1	580	c.154C>T	c.(154-156)Cat>Tat	p.H52Y	FAM50B_ENST00000380272.3_Missense_Mutation_p.H52Y			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	52						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				GTTCTCGGCGCATTACGACGC	0.647													T	3850199	C	T	3850199	3	4	289	1	0	0	0	0	1	0	0	0	5629	710	25	2	156	2	FAM50B	6	3850199	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		3850199	167264868	19	20111											
NEU1	4758	broad.mit.edu	37	chr6	31830546	31830546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgccgtgctgggtcgctccCcagtcatctctccccgcagc	3	8	11	19	4	2	0	1	0	1	0	6	0	4	0	5	1	2	3	5	1	0	0			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31830546C>A	ENST00000375631.4	-	1	137	c.8G>T	c.(7-9)gGg>gTg	p.G3V		NM_000434.3	NP_000425.1	Q99519	NEUR1_HUMAN	sialidase 1 (lysosomal sialidase)	3						cytoplasmic membrane-bounded vesicle|lysosomal lumen|lysosomal membrane|plasma membrane	exo-alpha-sialidase activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10					Oseltamivir(DB00198)|Zanamivir(DB00558)	GGGTCGCTCCCCAGTCATCTC	0.647													A	31830546	C	A	31830546	3	1	289	1	0	0	0	0	1	0	0	0	10417	623	22	4	1263	4	NEU1	6	31830546	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	27980347	31830546	139284521	20	20112											
C2	717	broad.mit.edu	37	chr6	31913064	31913064	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccacgagactttcacaTcaatctcttccgcatgcagc	9	9	7	16	3	3	1	2	0	1	1	5	2	4	1	3	0	2	2	3	0	1	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:31913064T>G	ENST00000299367.5	+	18	2465	c.2189T>G	c.(2188-2190)aTc>aGc	p.I730S	C2_ENST00000452323.2_Missense_Mutation_p.I516S|CFB_ENST00000556679.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.I598S|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000469372.1_Missense_Mutation_p.I484S|C2_ENST00000468407.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GACTTTCACATCAATCTCTTC	0.592													G	31913064	T	G	31913064	3	3	289	1	0	0	0	0	1	0	0	0	2095	1435	50	5	2336	5	C2	6	31913064	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	82518	31913064	139202003	21	20113											
STK38	11329	broad.mit.edu	37	chr6	36489539	36489539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaagcatatctgctttaCggagtattttcattgcatac	10	17	6	8	1	3	0	2	0	1	0	3	1	3	1	0	1	5	4	0	1	5	9			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:36489539C>A	ENST00000229812.7	-	5	647	c.362G>T	c.(361-363)cGt>cTt	p.R121L		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	121	Protein kinase.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity	p.R121L(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCTGCTTTACGGAGTATTTT	0.338													A	36489539	C	A	36489539	3	1	289	1	0	0	0	0	1	0	0	0	15399	536	19	4	1075	4	STK38	6	36489539	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	4576475	36489539	134625528	22	20114											
DNAH8	1769	broad.mit.edu	37	chr6	38980113	38980113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgagtgatctaaaattGgccattgaaggaacaatcat	15	10	9	7	0	2	3	1	3	1	0	2	4	2	4	2	2	2	0	2	2	5	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:38980113G>A	ENST00000359357.3	+	88	13097	c.12843G>A	c.(12841-12843)ttG>ttA	p.L4281L	DNAH8_ENST00000441566.1_Silent_p.L4245L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATCTAAAATTGGCCATTGAAG	0.348													A	38980113	G	A	38980113	2	1	289	1	0	0	0	0	0	0	0	1	4646	1339	47	2		2	DNAH8	6	38980113	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	2490574	38980113	132134954	23	20115											
PHIP	55023	broad.mit.edu	37	chr6	79650981	79650981	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccctcttcacaagttttGatggctgtcctccatggcca	6	13	8	14	0	2	1	1	1	1	0	5	1	5	1	5	2	0	2	5	2	1	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:79650981G>C	ENST00000275034.4	-	40	5062	c.4895C>G	c.(4894-4896)tCa>tGa	p.S1632*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1632					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		CACAAGTTTTGATGGCTGTCC	0.398													C	79650981	G	C	79650981	4	2	289	1	0	0	0	0	0	1	0	0	11919	1294	45	4	574	4	PHIP	6	79650981	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	40670868	79650981	91464086	24	20116											
ATG5	9474	broad.mit.edu	37	chr6	106764041	106764041	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaaacaagttggaattcGtccaaaccacacatctcgaa	15	8	7	11	3	1	1	0	1	1	0	4	3	2	2	2	1	2	1	2	1	5	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:106764041G>A	ENST00000369076.3	-	2	366	c.43C>T	c.(43-45)Cga>Tga	p.R15*	ATG5_ENST00000369070.1_De_novo_Start_OutOfFrame|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R15*|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R15*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	15					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	p.R15*(1)		endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		GTTGGAATTCGTCCAAACCAC	0.378													A	106764041	G	A	106764041	4	1	289	1	0	0	0	0	0	1	0	0	1105	1153	40	1	812	1	ATG5	6	106764041	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	27113060	106764041	64351026	25	20117											
RSPH4A	345895	broad.mit.edu	37	chr6	116938227	116938227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaagccagtcagaaggAaacacctttcaacagtctca	16	6	6	13	0	3	1	3	0	1	1	4	2	3	2	2	1	3	0	2	1	4	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:116938227A>G	ENST00000229554.5	+	1	578	c.441A>G	c.(439-441)ggA>ggG	p.G147G	RSPH4A_ENST00000368581.4_Silent_p.G147G|RSPH4A_ENST00000368580.4_Silent_p.G147G	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	147					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						AGTCAGAAGGAAACACCTTTC	0.458									Kartagener syndrome				G	116938227	A	G	116938227	2	3	289	1	0	0	0	0	0	0	0	1	13797	233	9	3		3	RSPH4A	6	116938227	Silent	SNP	A	TCGA-CS-5390-01A-02D-1468-08	10174186	116938227	54176840	26	20118											
ARID1B	57492	broad.mit.edu	37	chr6	157521872	157521872	+	Frame_Shift_Del	DEL	C	C	-																															atatggacggcatgtacgggCccccagccaagcgccacgag																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr6:157521872delC	ENST00000346085.5	+	18	4145	c.4144delC	c.(4144-4146)cccfs	p.P1383fs	ARID1B_ENST00000275248.4_Frame_Shift_Del_p.P1365fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.P1423fs|ARID1B_ENST00000350026.5_Frame_Shift_Del_p.P1370fs	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1370					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CATGTACGGGCCCCCAGCCAA	0.507													-	157521872	C	-	157521872	7	5	289	1	0	1	0	1	0	0	0	0	917	739	26	0	4214	0	ARID1B	6	157521872	Frame_Shift_Del	DEL	C	TCGA-CS-5390-01A-02D-1468-08	40583645	157521872	13593195	27	20119											
NPSR1	387129	broad.mit.edu	37	chr7	34889257	34889257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagattctgtccaagccagAattcatctagaccctagggc	11	9	9	12	0	3	3	1	0	2	3	4	3	4	3	3	1	1	1	3	1	4	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr7:34889257A>G	ENST00000360581.1	+	9	1234	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	NPSR1_ENST00000531252.1_Intron|NPSR1_ENST00000359791.1_Intron|NPSR1_ENST00000381539.3_3'UTR|NPSR1_ENST00000381542.1_Missense_Mutation_p.E303G	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	369						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TCCAAGCCAGAATTCATCTAG	0.527													G	34889257	A	G	34889257	3	3	289	1	0	0	0	0	1	0	0	0	10676	246	9	3	1140	3	NPSR1	7	34889257	Missense_Mutation	SNP	A	TCGA-CS-5390-01A-02D-1468-08		34889257	124249406	28	20120											
CSMD3	114788	broad.mit.edu	37	chr8	113259317	113259319	+	In_Frame_Del	DEL	AGA	AGA	-																															tgcgtgttgtagacccttggAgaaggtgtccttttttgcaa																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:113259317_113259319delAGA	ENST00000297405.5	-	64	10396_10398	c.10152_10154delTCT	c.(10150-10155)cttctc>ctc	p.3384_3385LL>L	CSMD3_ENST00000455883.2_In_Frame_Del_p.3215_3216LL>L|CSMD3_ENST00000343508.3_In_Frame_Del_p.3344_3345LL>L|CSMD3_ENST00000352409.3_In_Frame_Del_p.3314_3315LL>L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3384	Sushi 27.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGACCCTTGGAGAAGGTGTCCTT	0.399										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			-	113259319	AGA	-	113259317	7	5	289	1	0	1	0	1	0	0	0	0	3979	304	11	0	1001	0	CSMD3	8	113259317	In_Frame_Del	DEL	AGA	TCGA-CS-5390-01A-02D-1468-08		113259317	33104705	29	20121											
FAM83A	84985	broad.mit.edu	37	chr8	124219482	124219482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtttgacgaggagttcCgccacctctacgcctcctcc	6	10	9	16	3	1	1	0	1	1	0	4	3	4	2	6	1	2	3	6	1	1	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr8:124219482C>T	ENST00000518448.1	+	5	2873	c.859C>T	c.(859-861)Cgc>Tgc	p.R287C	FAM83A_ENST00000546351.1_Missense_Mutation_p.R231C|FAM83A_ENST00000276699.6_Missense_Mutation_p.R287C|FAM83A_ENST00000522648.1_Missense_Mutation_p.R231C|FAM83A_ENST00000536633.1_Missense_Mutation_p.R287C|FAM83A_ENST00000318462.6_Missense_Mutation_p.R287C			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	287										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CGAGGAGTTCCGCCACCTCTA	0.672													T	124219482	C	T	124219482	3	4	289	1	0	0	0	0	1	0	0	0	5683	652	23	1	873	1	FAM83A	8	124219482	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08	10960165	124219482	22144540	30	20122											
ZNF483	158399	broad.mit.edu	37	chr9	114304161	114304161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatttcaaagaaacttcaGacttaattaaacatctgaga	19	12	4	6	0	3	3	2	1	1	3	3	4	3	3	0	0	2	0	0	0	6	5			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:114304161G>A	ENST00000309235.5	+	6	1104	c.946G>A	c.(946-948)Gac>Aac	p.D316N	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	316					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						AGAAACTTCAGACTTAATTAA	0.398													A	114304161	G	A	114304161	3	1	289	1	0	0	0	0	1	0	0	0	18037	942	33	2	964	2	ZNF483	9	114304161	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		114304161	26909270	31	20123											
NOTCH1	4851	broad.mit.edu	37	chr9	139412203	139412203	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctggccccggccgacgcaCcgggcatgcagatgcactgg	6	4	14	17	4	0	1	0	0	0	1	0	2	0	1	5	4	2	4	5	4	0	0			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139412203C>T	ENST00000277541.6	-	8	1517		c.e8+1			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGACGCACCGGGCATGCA	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139412203	C	T	139412203	5	4	289	1	0	0	0	0	0	0	1	0	10623	521	18	2	6333	2	NOTCH1	9	139412203	Splice_Site	SNP	C	TCGA-CS-5390-01A-02D-1468-08	25108042	139412203	1801228	32	20124											
NOTCH1	4851	broad.mit.edu	37	chr9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-																															agcaggcggcgctggcacagTcatcaatgttctcgctgcag																										TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413131	TCA	-	139413129	7	5	289	1	0	1	0	1	0	0	0	0	10623	1667	58	0	6770	0	NOTCH1	9	139413129	In_Frame_Del	DEL	TCA	TCGA-CS-5390-01A-02D-1468-08	926	139413129	1800302	33	20125											
HK1	3098	broad.mit.edu	37	chr10	71136809	71136809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccggagctgctcacccgagGgaagtttaacaccagtgatg	10	7	12	12	2	1	1	1	1	0	0	1	4	1	3	3	2	3	3	3	2	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:71136809G>A	ENST00000448642.2	+	13	1489	c.1100G>A	c.(1099-1101)gGg>gAg	p.G367E	HK1_ENST00000359426.6_Missense_Mutation_p.G332E|HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.G336E|HK1_ENST00000298649.3_Missense_Mutation_p.G331E|HK1_ENST00000360289.2_Missense_Mutation_p.G320E			P19367	HXK1_HUMAN	hexokinase 1	332	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						CTCACCCGAGGGAAGTTTAAC	0.542													A	71136809	G	A	71136809	3	1	289	1	0	0	0	0	1	0	0	0	7245	1232	43	2	1203	2	HK1	10	71136809	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		71136809	64397938	34	20126											
NPM3	10360	broad.mit.edu	37	chr10	103541522	103541522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcccccctgctttttggcagGaaggatggggcacagctcaa	8	8	13	12	0	1	0	1	0	0	0	1	2	1	2	3	5	2	4	3	5	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr10:103541522G>A	ENST00000370110.5	-	5	530	c.508C>T	c.(508-510)Cct>Tct	p.P170S	NPM3_ENST00000474993.1_5'UTR	NM_006993.2	NP_008924.1	O75607	NPM3_HUMAN	nucleophosmin/nucleoplasmin 3	170							nucleic acid binding	p.P170S(1)		large_intestine(3)|lung(1)|skin(1)	5		Colorectal(252;0.122)		Epithelial(162;3.94e-09)|all cancers(201;2.13e-07)		TTTTTGGCAGGAAGGATGGGG	0.582											OREG0020469	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	103541522	G	A	103541522	3	1	289	1	0	0	0	0	1	0	0	0	10665	1174	41	2	32	2	NPM3	10	103541522	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	32404713	103541522	31993225	35	20127											
OR1S1	219959	broad.mit.edu	37	chr11	57982676	57982676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatgcggcccaggttcGgcattttgctcacagtcatc	6	13	9	13	2	3	0	3	0	1	0	6	0	3	0	1	3	2	3	1	3	0	4	rs117920455	by1000genomes	TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:57982676G>A	ENST00000309433.6	+	1	460	c.460G>A	c.(460-462)Ggc>Agc	p.G154S		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				GCCCAGGTTCGGCATTTTGCT	0.463													A	57982676	G	A	57982676	3	1	289	1	0	0	0	0	1	0	0	0	11048	1116	39	1	462	1	OR1S1	11	57982676	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		57982676	77023840	36	20128											
ACTN3	89	broad.mit.edu	37	chr11	66323638	66323638	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaacaccccaaagccGgatgagaaggccatcatgac	14	6	10	11	1	1	3	1	3	0	1	1	5	1	4	4	2	2	0	4	2	3	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr11:66323638G>A	ENST00000513398.1	+	0	838				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						CCCCAAAGCCGGATGAGAAGG	0.602													A	66323638	G	A	66323638	1	1	289	0	1	0	0	0	0	0	0	0	206	1103	39	1		1	ACTN3	11	66323638	RNA	SNP	G	TCGA-CS-5390-01A-02D-1468-08	8340962	66323638	68682878	37	20129											
AVPR1A	552	broad.mit.edu	37	chr12	63543713	63543713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaggcgcccagcagaCgatgtaagccgtcacgatca	14	4	12	11	4	2	2	2	0	0	2	2	5	2	2	2	1	2	2	2	1	3	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr12:63543713C>T	ENST00000299178.2	-	1	1009	c.904G>A	c.(904-906)Gtc>Atc	p.V302I		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	302					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GCCCAGCAGACGATGTAAGCC	0.567													T	63543713	C	T	63543713	3	4	289	1	0	0	0	0	1	0	0	0	1236	536	19	1	360	1	AVPR1A	12	63543713	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		63543713	70308182	38	20130											
XPO4	64328	broad.mit.edu	37	chr13	21381759	21381759	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctctccctgagtatcatCagctaagaggtagccttcag	10	11	9	11	0	4	2	3	1	1	1	6	2	5	2	2	1	2	3	2	1	3	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:21381759C>G	ENST00000400602.2	-	13	1689	c.1654G>C	c.(1654-1656)Gat>Cat	p.D552H	XPO4_ENST00000255305.6_Missense_Mutation_p.D552H	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	552					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGAGTATCATCAGCTAAGAGG	0.289													G	21381759	C	G	21381759	3	3	289	1	0	0	0	0	1	0	0	0	17548	826	29	4	1845	4	XPO4	13	21381759	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		21381759	93788119	39	20131											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678952	37678952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacttattacagtgacGcccagtacccatcaggaagt	14	8	8	11	1	1	1	1	1	0	0	1	3	1	2	2	1	4	1	2	1	6	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:37678952G>A	ENST00000379800.3	-	1	851	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	148	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TTACAGTGACGCCCAGTACCC	0.408													A	37678952	G	A	37678952	3	1	289	1	0	0	0	0	1	0	0	0	3984	1087	38	1	575	1	CSNK1A1L	13	37678952	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	16297193	37678952	77490926	40	20132											
UGGT2	55757	broad.mit.edu	37	chr13	96489363	96489363	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaattgttttggctctttGtttggattcatcatcacacc	8	18	6	9	0	5	0	4	0	1	0	5	1	5	1	1	2	0	3	1	2	1	6			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr13:96489363G>A	ENST00000376747.3	-	37	4448	c.4378C>T	c.(4378-4380)Caa>Taa	p.Q1460*		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	1460	Glucosyltransferase.				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TTGGCTCTTTGTTTGGATTCA	0.358													A	96489363	G	A	96489363	4	1	289	1	0	0	0	0	0	1	0	0	17044	1386	48	2	184	2	UGGT2	13	96489363	Nonsense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	58810411	96489363	18680515	41	20133											
GPHN	10243	broad.mit.edu	37	chr14	67576892	67576892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgccaggacaagtcatgcgGgttacaacaggtgctccaat	12	8	11	10	1	1	0	1	0	0	0	2	1	2	1	2	3	5	2	2	3	4	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:67576892G>A	ENST00000478722.1	+	14	2450	c.1329G>A	c.(1327-1329)cgG>cgA	p.R443R	GPHN_ENST00000543237.1_Silent_p.R456R|GPHN_ENST00000315266.5_Silent_p.R410R|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.R379R	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	410	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGTCATGCGGGTTACAACAG	0.458			T	MLL	AL								A	67576892	G	A	67576892	2	1	289	1	0	0	0	0	0	0	0	1	6664	1219	43	2		2	GPHN	14	67576892	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		67576892	39772648	42	20134											
TTLL5	23093	broad.mit.edu	37	chr14	76349031	76349031	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttttttttttgtaggcaAtctttggcagccagacacta	8	17	7	9	0	1	1	0	0	1	1	2	1	2	1	2	2	1	3	2	2	3	8			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr14:76349031A>G	ENST00000298832.9	+	30	3731	c.3526A>G	c.(3526-3528)Atc>Gtc	p.I1176V	TTLL5_ENST00000556893.1_Missense_Mutation_p.I727V|TTLL5_ENST00000557636.1_Missense_Mutation_p.I1191V|TTLL5_ENST00000554510.1_Missense_Mutation_p.I685V	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1176					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TTTGTAGGCAATCTTTGGCAG	0.413													G	76349031	A	G	76349031	3	3	289	1	0	0	0	0	1	0	0	0	16832	101	4	3	3640	3	TTLL5	14	76349031	Missense_Mutation	SNP	A	TCGA-CS-5390-01A-02D-1468-08	8772139	76349031	31000509	43	20135											
PCSK6	5046	broad.mit.edu	37	chr15	101929754	101929754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcggtacagcgctgacGcagatccgtggtgacctggg	7	7	15	12	4	0	3	0	2	0	1	2	3	1	3	3	3	2	3	3	3	1	1			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr15:101929754G>A	ENST00000348070.1	-	10	1221	c.1222C>T	c.(1222-1224)Cgt>Tgt	p.R408C	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R408C|PCSK6_ENST00000331826.7_Missense_Mutation_p.R243C|PCSK6_ENST00000358417.3_Missense_Mutation_p.R408C|PCSK6_ENST00000398181.2_Missense_Mutation_p.R408C	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	409	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAGCGCTGACGCAGATCCGTG	0.582													A	101929754	G	A	101929754	3	1	289	1	0	0	0	0	1	0	0	0	11680	1087	38	1	2219	1	PCSK6	15	101929754	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		101929754	601638	44	20136											
IKZF3	22806	broad.mit.edu	37	chr17	37985663	37985663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatgtcttcatcttcattgGctgggccttctccactgtcc	4	16	7	14	0	5	0	2	0	3	0	7	0	6	0	3	2	0	1	3	2	1	5			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:37985663G>A	ENST00000346872.3	-	3	201	c.140C>T	c.(139-141)gCc>gTc	p.A47V	IKZF3_ENST00000346243.3_Missense_Mutation_p.A47V|IKZF3_ENST00000377944.3_Missense_Mutation_p.A47V|IKZF3_ENST00000377945.3_Missense_Mutation_p.A47V|IKZF3_ENST00000394189.2_Missense_Mutation_p.A47V|IKZF3_ENST00000535189.1_Intron|IKZF3_ENST00000377958.2_Missense_Mutation_p.A47V|IKZF3_ENST00000350532.3_Missense_Mutation_p.A47V|IKZF3_ENST00000467757.1_Missense_Mutation_p.A47V|IKZF3_ENST00000377952.2_Missense_Mutation_p.A47V|IKZF3_ENST00000351680.3_Missense_Mutation_p.A47V|IKZF3_ENST00000439167.2_Intron|IKZF3_ENST00000439016.2_Missense_Mutation_p.A47V	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	47					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			ATCTTCATTGGCTGGGCCTTC	0.403													A	37985663	G	A	37985663	3	1	289	1	0	0	0	0	1	0	0	0	7674	1203	42	2	1413	2	IKZF3	17	37985663	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		37985663	43209547	45	20137											
KRT9	3857	broad.mit.edu	37	chr17	39725736	39725736	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaatgagctgctcatacTcctgacgcatgtcattgagg	10	11	10	10	1	2	3	2	3	0	0	3	3	3	3	1	1	4	4	1	1	3	3			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr17:39725736T>A	ENST00000246662.4	-	4	1051	c.986A>T	c.(985-987)gAg>gTg	p.E329V	KRT9_ENST00000588431.1_Missense_Mutation_p.E96V	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	329	Coil 2.|Rod.				intermediate filament organization|skin development		protein binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTGCTCATACTCCTGACGCAT	0.498													A	39725736	T	A	39725736	3	1	289	1	0	0	0	0	1	0	0	0	8559	1551	54	5	901	5	KRT9	17	39725736	Missense_Mutation	SNP	T	TCGA-CS-5390-01A-02D-1468-08	1740073	39725736	41469474	46	20138											
CDH19	28513	broad.mit.edu	37	chr18	64218460	64218460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccaatactcatcttgcaGttctctatccattttagaag	11	15	4	11	0	3	1	1	0	2	1	5	1	4	1	2	0	3	2	2	0	6	7			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr18:64218460G>T	ENST00000262150.2	-	5	938	c.646C>A	c.(646-648)Ctg>Atg	p.L216M	CDH19_ENST00000540086.1_Missense_Mutation_p.L216M	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	216	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TCATCTTGCAGTTCTCTATCC	0.308													T	64218460	G	T	64218460	3	4	289	1	0	0	0	0	1	0	0	0	3134	1020	36	4	1704	4	CDH19	18	64218460	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		64218460	13858788	47	20139											
ANGPT4	51378	broad.mit.edu	37	chr20	861878	861878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactggcactggccccagagCgctggatctctgcacagtcc	7	7	11	16	1	1	1	0	0	1	1	3	2	2	2	3	3	2	3	3	3	0	0			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr20:861878C>T	ENST00000381922.3	-	5	989	c.887G>A	c.(886-888)cGc>cAc	p.R296H	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R296H	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	296	Fibrinogen C-terminal.				anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GGCCCCAGAGCGCTGGATCTC	0.562													T	861878	C	T	861878	3	4	289	1	0	0	0	0	1	0	0	0	612	768	27	1	644	1	ANGPT4	20	861878	Missense_Mutation	SNP	C	TCGA-CS-5390-01A-02D-1468-08		861878	62163642	48	20140											
POTEH	23784	broad.mit.edu	37	chr22	16287514	16287514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcttcatagcagagtcGtcgtggtctccagaagtgcc	8	11	12	10	2	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chr22:16287514G>A	ENST00000343518.6	-	1	423	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	124										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TAGCAGAGTCGTCGTGGTCTC	0.607													A	16287514	G	A	16287514	2	1	289	1	0	0	0	0	0	0	0	1	12344	1136	40	1		1	POTEH	22	16287514	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08		16287514	35017052	49	20141											
BEND2	139105	broad.mit.edu	37	chrX	18221653	18221653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaagcagaaagatgacaagGctctacctgggcccacattt	13	7	11	10	0	1	3	0	1	1	2	1	4	1	4	2	3	2	2	2	3	4	2			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:18221653G>T	ENST00000380033.4	-	5	1007	c.875C>A	c.(874-876)gCc>gAc	p.A292D	BEND2_ENST00000380030.3_Missense_Mutation_p.A292D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	292										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						AGATGACAAGGCTCTACCTGG	0.418													T	18221653	G	T	18221653	3	4	289	1	0	0	0	0	1	0	0	0	1403	1203	42	4	1590	4	BEND2	23	18221653	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08		18221653	137048907	50	20142											
TAF9B	51616	broad.mit.edu	37	chrX	77394339	77394339	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggtgtttcattaacttaCggaaagcaaattccaacatt	13	15	6	7	1	1	0	1	0	0	0	2	1	2	1	1	2	4	2	1	2	5	6			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:77394339C>T	ENST00000341864.5	-	2	228		c.e2+1			NM_015975.4	NP_057059.2	Q9HBM6	TAF9B_HUMAN	TAF9B RNA polymerase II, TATA box binding protein (TBP)-associated factor, 31kDa						negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell growth|transcription initiation, DNA-dependent	transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	14						CATTAACTTACGGAAAGCAAA	0.328													T	77394339	C	T	77394339	5	4	289	1	0	0	0	0	0	0	1	0	15633	550	19	1	645	1	TAF9B	23	77394339	Splice_Site	SNP	C	TCGA-CS-5390-01A-02D-1468-08	59172686	77394339	77876221	51	20143											
SATL1	340562	broad.mit.edu	37	chrX	84363189	84363189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtaagcttgggcttggctgGattatacctgtttggttgga	7	15	14	5	0	0	0	0	0	0	0	0	2	0	2	1	5	2	6	1	5	3	7			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:84363189G>A	ENST00000509231.1	-	1	865	c.786C>T	c.(784-786)atC>atT	p.I262I	SATL1_ENST00000395409.3_Silent_p.I75I|SATL1_ENST00000332921.5_Silent_p.I75I			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	75	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						GGCTTGGCTGGATTATACCTG	0.433													A	84363189	G	A	84363189	2	1	289	1	0	0	0	0	0	0	0	1	13947	1164	41	2		2	SATL1	23	84363189	Silent	SNP	G	TCGA-CS-5390-01A-02D-1468-08	6968850	84363189	70907371	52	20144											
ARMCX1	51309	broad.mit.edu	37	chrX	100808652	100808652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaatgccatacgtgaattgGgtggtgtcccaattattgca	11	12	11	7	1	0	2	0	1	0	1	1	2	1	2	2	2	3	1	2	2	5	4			TCGA-CS-5390-01A-02D-1468-08	TCGA-CS-5390-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0e64f0e-5a56-4e98-a5db-4d44bee595a9	43746417-c404-4b14-8a55-463e79f3a745	g.chrX:100808652G>A	ENST00000372829.3	+	4	1110	c.739G>A	c.(739-741)Ggt>Agt	p.G247S		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	247						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						ACGTGAATTGGGTGGTGTCCC	0.388													A	100808652	G	A	100808652	3	1	289	1	0	0	0	0	1	0	0	0	964	1232	43	2	741	2	ARMCX1	23	100808652	Missense_Mutation	SNP	G	TCGA-CS-5390-01A-02D-1468-08	16445463	100808652	54461908	53	20145											
GDAP2	54834	broad.mit.edu	37	chr1	118441728	118441728	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatctgtcgttcaggtacCacaggctccccttctgcatt	7	13	7	14	1	3	0	1	0	2	0	5	0	4	0	3	2	2	4	3	2	2	5			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:118441728C>A	ENST00000369443.5	-	7	996	c.747G>T	c.(745-747)gtG>gtT	p.V249V	GDAP2_ENST00000369442.3_Silent_p.V249V|GDAP2_ENST00000464026.1_5'UTR	NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2											kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		GTTCAGGTACCACAGGCTCCC	0.438													A	118441728	C	A	118441728	2	1	290	1	0	0	0	0	0	0	0	1	6364	581	21	4		4	GDAP2	1	118441728	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		118441728	130808893	1	20146											
OR2W3	343171	broad.mit.edu	37	chr1	248059264	248059264	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctatgaccggtgtgtggctAtctgcaagcccctgcactac	7	10	10	14	1	1	1	0	1	1	0	1	1	1	1	4	2	4	3	4	2	4	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr1:248059264A>G	ENST00000537741.1	+	3	633	c.376A>G	c.(376-378)Atc>Gtc	p.I126V	OR2W3_ENST00000360358.3_Missense_Mutation_p.I126V			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GTGTGTGGCTATCTGCAAGCC	0.607													G	248059264	A	G	248059264	3	3	290	1	0	0	0	0	1	0	0	0	11109	449	16	3	378	3	OR2W3	1	248059264	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	129617536	248059264	1191357	2	20147											
SPTBN1	6711	broad.mit.edu	37	chr2	54880943	54880943	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgcgcgacctcatgctCtggatggaggatgtcatccg	7	10	14	10	3	3	0	2	0	1	0	4	4	4	3	2	4	2	1	2	4	0	0			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:54880943C>G	ENST00000333896.5	+	26	6121	c.5736C>G	c.(5734-5736)ctC>ctG	p.L1912L	SPTBN1_ENST00000356805.4_Silent_p.L1925L	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1925	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ACCTCATGCTCTGGATGGAGG	0.577													G	54880943	C	G	54880943	2	3	290	1	0	0	0	0	0	0	0	1	15215	900	32	4		4	SPTBN1	2	54880943	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		54880943	188318430	3	20148											
NEB	4703	broad.mit.edu	37	chr2	152474871	152474871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttcagcgtttctggaCgctgacggtagatagtatca	11	13	10	7	3	3	2	2	1	1	1	3	3	3	3	0	2	1	4	0	2	5	6			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:152474871C>T	ENST00000397345.3	-	74	11196	c.10994G>A	c.(10993-10995)cGt>cAt	p.R3665H	NEB_ENST00000172853.10_Missense_Mutation_p.R3422H|NEB_ENST00000604864.1_Missense_Mutation_p.R3665H|NEB_ENST00000427231.2_Missense_Mutation_p.R3665H|NEB_ENST00000409198.1_Missense_Mutation_p.R3422H|NEB_ENST00000603639.1_Missense_Mutation_p.R3665H	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	3665					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CGTTTCTGGACGCTGACGGTA	0.443													T	152474871	C	T	152474871	3	4	290	1	0	0	0	0	1	0	0	0	10378	536	19	1	15128	1	NEB	2	152474871	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	97593928	152474871	90724502	4	20149											
UBR3	130507	broad.mit.edu	37	chr2	170917865	170917865	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcctgaatccatggaaaAatgcttacaggacttctgct	11	12	8	10	0	2	1	0	1	2	0	4	3	3	3	2	2	3	2	2	2	4	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:170917865A>G	ENST00000272793.5	+	35	4981	c.4931A>G	c.(4930-4932)aAa>aGa	p.K1644R	UBR3_ENST00000392631.1_Missense_Mutation_p.K465R|UBR3_ENST00000418381.1_Missense_Mutation_p.K1644R			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1644					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCCATGGAAAAATGCTTACAG	0.363													G	170917865	A	G	170917865	3	3	290	1	0	0	0	0	1	0	0	0	17005	14	1	3	5069	3	UBR3	2	170917865	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	18442994	170917865	72281508	5	20150											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	290	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	38195247	209113112	34086261	6	20151											
DCLK3	85443	broad.mit.edu	37	chr3	36779426	36779426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttccacaaggtccttcttgGccttggctgctccctgagca	5	12	9	15	0	1	1	0	1	1	0	4	1	4	1	4	3	2	3	4	3	1	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:36779426G>T	ENST00000416516.2	-	2	1215	c.725C>A	c.(724-726)gCc>gAc	p.A242D		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	242						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						GTCCTTCTTGGCCTTGGCTGC	0.562													T	36779426	G	T	36779426	3	4	290	1	0	0	0	0	1	0	0	0	4327	1203	42	4	1237	4	DCLK3	3	36779426	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		36779426	161243004	7	20152											
BCL6	604	broad.mit.edu	37	chr3	187449545	187449545	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacatgctccatctgcAggtacatagccgtggccatc	10	8	8	15	1	1	0	0	0	1	0	3	0	2	0	4	2	5	3	4	2	3	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr3:187449545A>G	ENST00000406870.2	-	4	701	c.335T>C	c.(334-336)cTg>cCg	p.L112P	RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000232014.4_Missense_Mutation_p.L112P|BCL6_ENST00000450123.2_Missense_Mutation_p.L112P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	112					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTCCATCTGCAGGTACATAGC	0.537			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								G	187449545	A	G	187449545	3	3	290	1	0	0	0	0	1	0	0	0	1381	188	7	3	1813	3	BCL6	3	187449545	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	150670119	187449545	10572885	8	20153											
WDFY3	23001	broad.mit.edu	37	chr4	85600267	85600267	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacaccaggcggctgttgCgcggcaggaggctgcccggg	6	5	18	12	4	0	0	0	0	0	0	0	1	0	1	2	6	3	5	2	6	1	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:85600267C>T	ENST00000322366.6	-	64	10308	c.9901G>A	c.(9901-9903)Gca>Aca	p.A3301T	WDFY3_ENST00000295888.4_Missense_Mutation_p.A3318T			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3318						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GCGGCTGTTGCGCGGCAGGAG	0.582													T	85600267	C	T	85600267	3	4	290	1	0	0	0	0	1	0	0	0	17372	768	27	1	644	1	WDFY3	4	85600267	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		85600267	105554009	9	20154											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277114	160277114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccagccaggaaaccgccGgactacaacgtggcccttca	11	5	9	16	3	1	0	1	0	0	0	2	2	2	2	5	3	4	0	5	3	3	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr4:160277114G>A	ENST00000264431.4	+	23	4697	c.4278G>A	c.(4276-4278)ccG>ccA	p.P1426P		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1426					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		GGAAACCGCCGGACTACAACG	0.612													A	160277114	G	A	160277114	2	1	290	1	0	0	0	0	0	0	0	1	13132	1103	39	1		1	RAPGEF2	4	160277114	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08	74676847	160277114	30877162	10	20155											
PRDM9	56979	broad.mit.edu	37	chr5	23526956	23526956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctgcagggagtgtgggCggggctttagctggcagtca	6	10	18	7	1	2	0	1	0	1	0	2	1	2	1	0	5	2	4	0	5	1	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:23526956C>T	ENST00000296682.3	+	11	1941	c.1759C>T	c.(1759-1761)Cgg>Tgg	p.R587W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	587					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R587R(1)|p.R587W(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.607										HNSCC(3;0.000094)			T	23526956	C	T	23526956	3	4	290	1	0	0	0	0	1	0	0	0	12549	759	27	1	1797	1	PRDM9	5	23526956	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		23526956	157388304	11	20156											
PDZD2	23037	broad.mit.edu	37	chr5	32089685	32089685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccggcagcgtctaggaacgGcatgtccgtggcagggaaca	9	6	15	11	4	1	0	0	0	1	0	3	2	3	2	2	5	3	3	2	5	3	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr5:32089685G>A	ENST00000438447.1	+	20	6519	c.6131G>A	c.(6130-6132)gGc>gAc	p.G2044D	PDZD2_ENST00000282493.3_Missense_Mutation_p.G2044D			O15018	PDZD2_HUMAN	PDZ domain containing 2	2044					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						TCTAGGAACGGCATGTCCGTG	0.642													A	32089685	G	A	32089685	3	1	290	1	0	0	0	0	1	0	0	0	11777	1203	42	2	6205	2	PDZD2	5	32089685	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	8562729	32089685	148825575	12	20157											
TNXB	7148	broad.mit.edu	37	chr6	32039776	32039776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccatctcacccgtctttgCctccacagagactgggctgc	6	9	9	17	1	2	1	1	0	2	1	4	2	3	1	4	1	2	1	4	1	0	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:32039776C>T	ENST00000375244.3	-	13	5182	c.4981G>A	c.(4981-4983)Gca>Aca	p.A1661T	TNXB_ENST00000375247.2_Missense_Mutation_p.A1661T			P22105	TENX_HUMAN	tenascin XB	1743	Fibronectin type-III 9.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCGTCTTTGCCTCCACAGAG	0.592													T	32039776	C	T	32039776	3	4	290	1	0	0	0	0	1	0	0	0	16446	739	26	2	9860	2	TNXB	6	32039776	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		32039776	139075291	13	20158											
CLVS2	134829	broad.mit.edu	37	chr6	123332253	123332253	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaacttcactttcaagcaAgcctctaaactcacaccaag	15	9	4	13	0	4	0	3	0	1	0	4	0	4	0	2	0	4	2	2	0	6	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr6:123332253A>G	ENST00000275162.5	+	3	1848	c.513A>G	c.(511-513)caA>caG	p.Q171Q	CLVS2_ENST00000368438.1_Silent_p.Q25Q	NM_001010852.3	NP_001010852.2	Q5SYC1	CLVS2_HUMAN	clavesin 2		CRAL-TRIO.				lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity	p.Q171H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	40						CTTTCAAGCAAGCCTCTAAAC	0.413													G	123332253	A	G	123332253	2	3	290	1	0	0	0	0	0	0	0	1	3603	69	3	3		3	CLVS2	6	123332253	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08	91292477	123332253	47782814	14	20159											
PLEKHA8	84725	broad.mit.edu	37	chr7	30092391	30092391	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataaatggtgaggaagaaatCctaatgaaaaataagaattc	21	9	8	3	0	0	4	0	2	0	2	2	5	1	5	1	2	0	0	1	2	9	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:30092391C>T	ENST00000449726.1	+	7	1055	c.705C>T	c.(703-705)atC>atT	p.I235I	PLEKHA8_ENST00000396259.1_Silent_p.I235I|PLEKHA8_ENST00000258679.7_Silent_p.I235I|PLEKHA8_ENST00000396257.2_Silent_p.I235I	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	235					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						AGGAAGAAATCCTAATGAAAA	0.308													T	30092391	C	T	30092391	2	4	290	1	0	0	0	0	0	0	0	1	12139	845	30	2		2	PLEKHA8	7	30092391	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08		30092391	129046272	15	20160											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805131	44805131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcgctgccccctttgcccCcctgcagcccccctcagtcc	2	7	8	24	2	1	0	1	0	0	0	2	0	2	0	9	1	4	2	9	1	0	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:44805131C>A	ENST00000309315.4	+	16	2318	c.2195C>A	c.(2194-2196)cCc>cAc	p.P732H	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P706H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P674H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P732H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P700H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	732	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCTTTGCCCCCCTGCAGCCC	0.687													A	44805131	C	A	44805131	3	1	290	1	0	0	0	0	1	0	0	0	17798	623	22	4	2253	4	ZMIZ2	7	44805131	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	14712740	44805131	114333532	16	20161											
ABCB4	5244	broad.mit.edu	37	chr7	87046828	87046828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagccaacctggttcctgTggcctgggagagaaaaagca	13	7	12	9	0	0	1	0	0	0	1	1	3	1	2	4	3	3	2	4	3	5	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr7:87046828T>C	ENST00000265723.4	-	21	2593	c.2482A>G	c.(2482-2484)Aca>Gca	p.T828A	ABCB4_ENST00000358400.3_Missense_Mutation_p.T828A|ABCB4_ENST00000359206.3_Missense_Mutation_p.T828A|ABCB4_ENST00000453593.1_Missense_Mutation_p.T828A|ABCB4_ENST00000545634.1_Missense_Mutation_p.T828A	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	828	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGGTTCCTGTGGCCTGGGAG	0.428													C	87046828	T	C	87046828	3	2	290	1	0	0	0	0	1	0	0	0	43	1696	59	3	1410	3	ABCB4	7	87046828	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08	42241697	87046828	72091835	17	20162											
CSMD3	114788	broad.mit.edu	37	chr8	113304784	113304784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acctttgcacataggtggagGatggctccactgtctgttgg	7	12	13	9	0	1	0	0	0	1	0	2	2	2	2	2	5	1	3	2	5	1	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr8:113304784G>A	ENST00000297405.5	-	55	9014	c.8770C>T	c.(8770-8772)Cct>Tct	p.P2924S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2884S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2854S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2755S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2924	Sushi 19.					integral to membrane|plasma membrane		p.P2924T(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAGGTGGAGGATGGCTCCAC	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113304784	G	A	113304784	3	1	290	1	0	0	0	0	1	0	0	0	3979	1174	41	2	2421	2	CSMD3	8	113304784	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		113304784	33059238	18	20163											
DENND4C	55667	broad.mit.edu	37	chr9	19346705	19346705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggaaaacagagagtctgGcatgactactgcatttattc	14	10	10	7	0	1	3	0	1	1	2	2	5	1	4	0	2	3	2	0	2	4	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:19346705G>T	ENST00000380432.2	+	18	3116	c.3083G>T	c.(3082-3084)gGc>gTc	p.G1028V	DENND4C_ENST00000602925.1_Missense_Mutation_p.G1264V|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1313V			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1028						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AGAGAGTCTGGCATGACTACT	0.398													T	19346705	G	T	19346705	3	4	290	1	0	0	0	0	1	0	0	0	4474	1203	42	4	3153	4	DENND4C	9	19346705	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		19346705	121866726	19	20164											
TRUB2	26995	broad.mit.edu	37	chr9	131084636	131084636	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttccattttagccccggggGcttatagaccgcgaaaagcc	9	9	10	13	3	0	1	0	0	0	1	1	2	1	1	5	2	2	1	5	2	5	5			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr9:131084636G>C	ENST00000372890.4	-	1	385	c.52C>G	c.(52-54)Ccc>Gcc	p.P18A	TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	18					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						AGCCCCGGGGGCTTATAGACC	0.592													C	131084636	G	C	131084636	3	2	290	1	0	0	0	0	1	0	0	0	16704	1203	42	4	975	4	TRUB2	9	131084636	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	111737931	131084636	10128795	20	20165											
CELF2	10659	broad.mit.edu	37	chr10	11363181	11363181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctctcaggtatggcggctCtgaatggaggacttggcgcc	6	10	15	10	2	2	1	1	1	2	0	3	3	2	3	1	6	1	3	1	6	2	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr10:11363181C>G	ENST00000379261.4	+	11	1179	c.1087C>G	c.(1087-1089)Ctg>Gtg	p.L363V	CELF2_ENST00000416382.2_Missense_Mutation_p.L363V|CELF2_ENST00000427450.1_Missense_Mutation_p.L345V|CELF2_ENST00000537122.1_Missense_Mutation_p.L258V|CELF2_ENST00000417956.2_Missense_Mutation_p.L343V|CELF2_ENST00000354897.3_Missense_Mutation_p.L357V|CELF2_ENST00000315874.4_Missense_Mutation_p.L345V|CELF2_ENST00000542579.1_Missense_Mutation_p.L376V|CELF2_ENST00000354440.2_Missense_Mutation_p.L345V|CELF2_ENST00000450189.1_Missense_Mutation_p.L376V|CELF2_ENST00000399850.3_Missense_Mutation_p.L345V|CELF2_ENST00000608830.1_Missense_Mutation_p.L343V|CELF2_ENST00000609692.1_Missense_Mutation_p.L343V	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	363	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TATGGCGGCTCTGAATGGAGG	0.502													G	11363181	C	G	11363181	3	3	290	1	0	0	0	0	1	0	0	0	3246	912	32	4	1237	4	CELF2	10	11363181	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08		11363181	124171566	21	20166											
OR51F2	119694	broad.mit.edu	37	chr11	4843405	4843405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacatcagtgctgtttccAtcttctacctccctctcatc	6	14	3	18	0	4	0	2	0	3	0	8	0	6	0	4	0	2	2	4	0	1	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:4843405A>G	ENST00000322110.5	+	1	855	c.790A>G	c.(790-792)Atc>Gtc	p.I264V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGCTGTTTCCATCTTCTACCT	0.478													G	4843405	A	G	4843405	3	3	290	1	0	0	0	0	1	0	0	0	11173	217	8	3	792	3	OR51F2	11	4843405	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08		4843405	130163111	22	20167											
OR4C6	219432	broad.mit.edu	37	chr11	55432839	55432839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcttaccttcttgtcccTtttggatgtcatgttctcat	4	22	5	10	0	4	0	2	0	3	0	6	1	5	1	2	1	1	1	2	1	1	8			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:55432839T>C	ENST00000314259.3	+	1	226	c.197T>C	c.(196-198)cTt>cCt	p.L66P		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						TTCTTGTCCCTTTTGGATGTC	0.448													C	55432839	T	C	55432839	3	2	290	1	0	0	0	0	1	0	0	0	11128	1609	56	3	199	3	OR4C6	11	55432839	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08	50589434	55432839	79573677	23	20168											
CCDC82	79780	broad.mit.edu	37	chr11	96092275	96092275	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattcctggtatagtttgAatttaaaatgtttcagttta	13	18	6	4	0	1	1	1	1	0	0	2	1	2	1	1	1	1	4	1	1	7	9			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:96092275A>T	ENST00000278520.5	-	8	1876	c.1448T>A	c.(1447-1449)tTc>tAc	p.F483Y	CCDC82_ENST00000542662.1_Missense_Mutation_p.F483Y|CCDC82_ENST00000423339.2_Missense_Mutation_p.F483Y			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	483							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTATAGTTTGAATTTAAAATG	0.343													T	96092275	A	T	96092275	3	4	290	1	0	0	0	0	1	0	0	0	2884	246	9	5	194	5	CCDC82	11	96092275	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	40659436	96092275	38914241	24	20169											
OR8B4	283162	broad.mit.edu	37	chr11	124293908	124293908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattcctcaaactgtagatcGaagggttaagcatgggaacc	13	10	10	8	1	1	1	1	0	0	1	3	3	2	2	2	2	3	3	2	2	6	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:124293908G>A	ENST00000356130.3	-	1	881	c.860C>T	c.(859-861)tCg>tTg	p.S287L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		ACTGTAGATCGAAGGGTTAAG	0.443													A	124293908	G	A	124293908	3	1	290	1	0	0	0	0	1	0	0	0	11305	1059	37	1	71	1	OR8B4	11	124293908	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	28201633	124293908	10712608	25	20170											
FAM118B	79607	broad.mit.edu	37	chr11	126126563	126126563	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcccttttcttggaggctgtCaagcataaatctgacctaga	10	12	9	10	0	3	2	1	1	2	1	3	3	3	3	2	2	1	2	2	2	4	5			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:126126563C>G	ENST00000533050.1	+	7	1291	c.798C>G	c.(796-798)gtC>gtG	p.V266V	FAM118B_ENST00000360194.4_Silent_p.V266V|FAM118B_ENST00000529731.1_Silent_p.V190V	NM_024556.3	NP_078832.1	Q9BPY3	F118B_HUMAN	family with sequence similarity 118, member B	266										breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)	13	all_hematologic(175;0.145)	Breast(109;0.00156)|Lung NSC(97;0.00948)|all_lung(97;0.0101)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.15e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0784)		TGGAGGCTGTCAAGCATAAAT	0.448													G	126126563	C	G	126126563	2	3	290	1	0	0	0	0	0	0	0	1	5457	813	29	4		4	FAM118B	11	126126563	Silent	SNP	C	TCGA-CS-5393-01A-01D-1468-08	1832655	126126563	8879953	26	20171											
PRDM10	56980	broad.mit.edu	37	chr11	129784709	129784709	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccccttgtggcgttcGgtagtctgtcgttaaggtct	5	15	12	9	3	2	0	0	0	2	0	5	0	3	0	2	3	0	4	2	3	3	5			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr11:129784709G>A	ENST00000358825.5	-	18	2974	c.2743C>T	c.(2743-2745)Cga>Tga	p.R915*	PRDM10_ENST00000526082.1_Nonsense_Mutation_p.R829*|PRDM10_ENST00000360871.3_Nonsense_Mutation_p.R911*|PRDM10_ENST00000423662.2_Nonsense_Mutation_p.R829*|PRDM10_ENST00000528746.1_Nonsense_Mutation_p.R885*|PRDM10_ENST00000304538.6_Nonsense_Mutation_p.R825*	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	915	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TGTGGCGTTCGGTAGTCTGTC	0.552													A	129784709	G	A	129784709	4	1	290	1	0	0	0	0	0	1	0	0	12537	1124	39	1	759	1	PRDM10	11	129784709	Nonsense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	3658146	129784709	5221807	27	20172											
PYROXD1	79912	broad.mit.edu	37	chr12	21593340	21593340	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcggaagatattctcttggtAacagcttctcctgttattaa	10	16	7	8	1	2	1	0	0	2	1	5	2	2	2	1	2	2	3	1	2	5	7			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:21593340A>G	ENST00000240651.9	+	2	177	c.123A>G	c.(121-123)gtA>gtG	p.V41V	PYROXD1_ENST00000538582.1_5'UTR|PYROXD1_ENST00000545178.1_Silent_p.V41V	NM_024854.3	NP_079130.2	Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1	41							oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						TTCTCTTGGTAACAGCTTCTC	0.289													G	21593340	A	G	21593340	2	3	290	1	0	0	0	0	0	0	0	1	12954	349	13	3		3	PYROXD1	12	21593340	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08		21593340	112258555	28	20173											
TROAP	10024	broad.mit.edu	37	chr12	49717665	49717665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgctcaatattcaacgccCcctcgttgattcagcaggcc	9	9	7	16	3	3	1	3	1	0	0	4	1	3	1	4	1	2	3	4	1	3	4			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:49717665C>A	ENST00000551245.1	+	3	293	c.182C>A	c.(181-183)cCc>cAc	p.P61H	TROAP_ENST00000550709.1_Missense_Mutation_p.P61H|TROAP_ENST00000549534.1_3'UTR|TROAP_ENST00000548311.1_Missense_Mutation_p.P61H|TROAP_ENST00000549275.1_Intron|TROAP_ENST00000257909.3_Missense_Mutation_p.P61H|RP11-161H23.9_ENST00000553259.1_RNA|TROAP_ENST00000380327.5_Missense_Mutation_p.P61H			Q12815	TROAP_HUMAN	trophinin associated protein	61					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						ATTCAACGCCCCCTCGTTGAT	0.562													A	49717665	C	A	49717665	3	1	290	1	0	0	0	0	1	0	0	0	16676	623	22	4	188	4	TROAP	12	49717665	Missense_Mutation	SNP	C	TCGA-CS-5393-01A-01D-1468-08	28124325	49717665	84134230	29	20174											
KRT6C	286887	broad.mit.edu	37	chr12	52865067	52865067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgagatgtgggtctgcAtctgggacagctcctgcaga	7	11	14	9	0	3	2	0	1	3	2	4	4	4	3	1	2	3	3	1	2	0	0			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:52865067A>G	ENST00000252250.6	-	5	973	c.926T>C	c.(925-927)aTg>aCg	p.M309T		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	309	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GTGGGTCTGCATCTGGGACAG	0.507													G	52865067	A	G	52865067	3	3	290	1	0	0	0	0	1	0	0	0	8540	217	8	3	788	3	KRT6C	12	52865067	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08	3147402	52865067	80986828	30	20175											
KRT77	374454	broad.mit.edu	37	chr12	53088518	53088518	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagggaacggttattGtccatggacaggatgacgtt	10	10	14	7	2	0	1	0	1	0	0	2	4	2	4	2	5	1	2	2	5	2	3	rs75198741		TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:53088518G>A	ENST00000341809.3	-	5	1000	c.972C>T	c.(970-972)gaC>gaT	p.D324D	KRT77_ENST00000537195.1_Silent_p.D91D|RP11-641A6.3_ENST00000547533.1_RNA	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	324	Linker 12.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACGGTTATTGTCCATGGACA	0.572													A	53088518	G	A	53088518	2	1	290	1	0	0	0	0	0	0	0	1	8548	1368	48	2		2	KRT77	12	53088518	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08	223451	53088518	80763377	31	20176											
DNAJC14	85406	broad.mit.edu	37	chr12	56217271	56217271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctcctcagcccggggatGatgatttttgtcaggatgaa	8	11	13	9	1	2	3	2	3	0	0	3	5	3	5	3	4	1	0	3	4	1	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr12:56217271G>A	ENST00000357606.3	-	4	1718	c.1429C>T	c.(1429-1431)Cat>Tat	p.H477Y	DNAJC14_ENST00000317287.5_Missense_Mutation_p.H477Y|RP11-762I7.5_ENST00000546837.1_Missense_Mutation_p.S106L|DNAJC14_ENST00000317269.3_Missense_Mutation_p.H477Y			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	477	J.				protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GCCCGGGGATGATGATTTTTG	0.443													A	56217271	G	A	56217271	3	1	290	1	0	0	0	0	1	0	0	0	4672	1290	45	2	699	2	DNAJC14	12	56217271	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	3128753	56217271	77634624	32	20177											
OCA2	4948	broad.mit.edu	37	chr15	28235791	28235791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgccagagttctgtgcacGatctggaaagaagcacagga	12	6	13	10	2	2	2	0	0	2	2	2	5	2	4	2	2	2	3	2	2	2	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:28235791G>A	ENST00000354638.3	-	10	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	OCA2_ENST00000382996.2_Silent_p.I349I|OCA2_ENST00000353809.5_Intron	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	349					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		TTCTGTGCACGATCTGGAAAG	0.547									Oculocutaneous Albinism				A	28235791	G	A	28235791	2	1	290	1	0	0	0	0	0	0	0	1	10891	1048	37	1		1	OCA2	15	28235791	Silent	SNP	G	TCGA-CS-5393-01A-01D-1468-08		28235791	74295601	33	20178											
THBS1	7057	broad.mit.edu	37	chr15	39883403	39883403	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcaggacaactgtccAttccattacaacccagctca	11	11	5	14	0	2	0	1	0	1	0	4	1	4	1	3	1	5	2	3	1	3	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr15:39883403A>G	ENST00000260356.5	+	15	2430	c.2265A>G	c.(2263-2265)ccA>ccG	p.P755P		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	755					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	ACAACTGTCCATTCCATTACA	0.448													G	39883403	A	G	39883403	2	3	290	1	0	0	0	0	0	0	0	1	15953	204	8	3		3	THBS1	15	39883403	Silent	SNP	A	TCGA-CS-5393-01A-01D-1468-08	11647612	39883403	62647989	34	20179											
CCDC64B	146439	broad.mit.edu	37	chr16	3078744	3078744	+	Frame_Shift_Del	DEL	C	C	-																															tgagagggcactgtgcagggCctccccagggtcttcctgcg																										TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:3078744delC	ENST00000573514.1	-	6	2764	c.574delG	c.(574-576)gccfs	p.A192fs	CCDC64B_ENST00000572449.1_Frame_Shift_Del_p.A399fs|CCDC64B_ENST00000389347.4_Frame_Shift_Del_p.A399fs			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	399										breast(1)|endometrium(2)|large_intestine(1)	4						CTGTGCAGGGCCTCCCCAGGG	0.667													-	3078744	C	-	3078744	7	5	290	1	0	1	0	1	0	0	0	0	2864	739	26	0	343	0	CCDC64B	16	3078744	Frame_Shift_Del	DEL	C	TCGA-CS-5393-01A-01D-1468-08		3078744	87276009	35	20180											
IGSF6	10261	broad.mit.edu	37	chr16	21658638	21658638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcctcacttttgcacccGtccaagcacaggttctcagg	7	11	8	15	1	3	0	2	0	2	0	5	0	4	0	3	2	3	3	3	2	1	3	rs1454374	byFrequency	TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:21658638G>T	ENST00000268389.4	-	2	304	c.243C>A	c.(241-243)gaC>gaA	p.D81E	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	81	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TTTTGCACCCGTCCAAGCACA	0.512													T	21658638	G	T	21658638	3	4	290	1	0	0	0	0	1	0	0	0	7661	1136	40	4	502	4	IGSF6	16	21658638	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	18579894	21658638	68696115	36	20181											
TK2	7084	broad.mit.edu	37	chr16	66551051	66551053	+	In_Frame_Del	DEL	CTT	CTT	-																															cctcttaccagcggaatgacCttctcctcttccctgcatct																										TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr16:66551051_66551053delCTT	ENST00000299697.7	-	8	954_956	c.730_732delAAG	c.(730-732)aagdel	p.K244del	TK2_ENST00000527284.1_In_Frame_Del_p.K171del|TK2_ENST00000417693.3_In_Frame_Del_p.K184del|TK2_ENST00000451102.2_In_Frame_Del_p.K202del|TK2_ENST00000525974.1_In_Frame_Del_p.K105del|TK2_ENST00000545043.2_In_Frame_Del_p.K177del|TK2_ENST00000564917.1_In_Frame_Del_p.K202del|TK2_ENST00000527800.1_In_Frame_Del_p.K105del|TK2_ENST00000544898.1_In_Frame_Del_p.K153del|TK2_ENST00000563369.2_In_Frame_Del_p.K105del|RP11-403P17.5_ENST00000561728.1_In_Frame_Del_p.E18del	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	202					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		GCGGAATGACCTTCTCCTCTTCC	0.512											OREG0032067	type=REGULATORY REGION|TFbs=RELA|Dataset=RELA (p65) ChIP-PET Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with paired-end diTag sequencing (ChIP-PET)	-	66551053	CTT	-	66551051	7	5	290	1	0	1	0	1	0	0	0	0	16033	680	24	0	203	0	TK2	16	66551051	In_Frame_Del	DEL	CTT	TCGA-CS-5393-01A-01D-1468-08	44892413	66551051	23803702	37	20182											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	5	10	16	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000413465.2_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			A	7577532	G	A	7577532	3	1	290	1	0	0	0	0	1	0	0	0	16482	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08		7577532	73617678	38	20183											
KRT20	54474	broad.mit.edu	37	chr17	39034595	39034596	+	Frame_Shift_Del	DEL	AG	AG	-																															aacgggccttggtctcctctAgagtgtgctccaaagactct																										TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr17:39034595_39034596delAG	ENST00000167588.3	-	6	981_982	c.940_941delCT	c.(940-942)ctafs	p.L314fs		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	314	Coil 2.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GGTCTCCTCTAGAGTGTGCTCC	0.46													-	39034596	AG	-	39034595	7	5	290	1	0	1	0	1	0	0	0	0	8516	420	15	0	345	0	KRT20	17	39034595	Frame_Shift_Del	DEL	AG	TCGA-CS-5393-01A-01D-1468-08	31457063	39034595	42160615	39	20184											
SMARCA4	6597	broad.mit.edu	37	chr19	11132435	11132435	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgattgtggacgaaggtcAccgcatgaagaaccaccact	13	7	10	11	2	1	3	1	2	0	1	1	5	1	4	3	2	1	1	3	2	3	1			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:11132435A>G	ENST00000358026.2	+	19	2935	c.2651A>G	c.(2650-2652)cAc>cGc	p.H884R	SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884R|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884R|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884R|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884R|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.H884P(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACGAAGGTCACCGCATGAAG	0.622			"F, N, Mis"		NSCLC								G	11132435	A	G	11132435	3	3	290	1	0	0	0	0	1	0	0	0	14864	159	6	3	2721	3	SMARCA4	19	11132435	Missense_Mutation	SNP	A	TCGA-CS-5393-01A-01D-1468-08		11132435	47996548	40	20185											
CD177	57126	broad.mit.edu	37	chr19	43865786	43865786	+	RNA	DEL	G	G	-																															cactggtggcctggactcctGggtctgagggaggaggggct																										TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:43865786delG	ENST00000378009.4	+	0	1242				CTC-490G23.4_ENST00000607109.1_RNA|CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				ctggactcctgggtctgaggg	0.662													-	43865786	G	-	43865786	6	5	290	0	1	1	0	1	0	0	0	0	3001	1363	47	0		0	CD177	19	43865786	RNA	DEL	G	TCGA-CS-5393-01A-01D-1468-08	32733351	43865786	15263197	41	20186											
EPS8L1	54869	broad.mit.edu	37	chr19	55597452	55597452	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggatgacagtcgtaagtgGtggaaggttcgggacccagc	9	8	16	8	2	0	1	0	1	0	0	2	4	0	4	1	5	1	2	1	5	2	2			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chr19:55597452G>A	ENST00000201647.6	+	16	1598	c.1542G>A	c.(1540-1542)tgG>tgA	p.W514*	EPS8L1_ENST00000588359.1_Nonsense_Mutation_p.W200*|EPS8L1_ENST00000245618.5_Nonsense_Mutation_p.W387*|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Nonsense_Mutation_p.W450*	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	514	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCGTAAGTGGTGGAAGGTTC	0.622													A	55597452	G	A	55597452	4	1	290	1	0	0	0	0	0	1	0	0	5236	1270	44	2	1652	2	EPS8L1	19	55597452	Nonsense_Mutation	SNP	G	TCGA-CS-5393-01A-01D-1468-08	11731666	55597452	3531531	42	20187											
RGAG1	57529	broad.mit.edu	37	chrX	109694416	109694416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcctctgaggcaatgTccacaccattaatgctagcc	10	11	6	14	0	2	1	1	1	1	0	4	1	4	1	4	1	2	2	4	1	3	3			TCGA-CS-5393-01A-01D-1468-08	TCGA-CS-5393-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddc229a3-8c45-4736-9cff-6495193c3c55	53327aaf-fa9c-44ed-8c21-1c557f76186e	g.chrX:109694416T>C	ENST00000465301.2	+	3	817	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	RGAG1_ENST00000540313.1_Missense_Mutation_p.S191P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	191										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGAGGCAATGTCCACACCATT	0.483													C	109694416	T	C	109694416	3	2	290	1	0	0	0	0	1	0	0	0	13362	1667	58	3	573	3	RGAG1	23	109694416	Missense_Mutation	SNP	T	TCGA-CS-5393-01A-01D-1468-08		109694416	45576144	43	20188											
FUBP1	8880	broad.mit.edu	37	chr1	78422352	78422352	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcgtaataagcagccCaagctgctgaatttggatcc	12	9	11	9	1	0	2	0	2	0	0	1	3	1	3	2	1	5	4	2	1	4	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:78422352C>T	ENST00000370767.1	-	17	1697	c.1610G>A	c.(1609-1611)tGg>tAg	p.W537*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W558*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W537*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	537	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATAAGCAGCCCAAGCTGCTGA	0.458			"F, N"		oligodendroglioma								T	78422352	C	T	78422352	4	4	291	1	0	0	0	0	0	1	0	0	6144	595	21	2	340	2	FUBP1	1	78422352	Nonsense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		78422352	170828269	1	20189											
TAGLN2	8407	broad.mit.edu	37	chr1	159890149	159890149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagccagttctggaagtTctcgcgtccaggctggggcc	5	10	14	12	2	2	1	0	1	2	0	4	2	3	2	3	4	1	3	3	4	1	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr1:159890149T>C	ENST00000368097.4	-	2	461	c.151A>G	c.(151-153)Aac>Gac	p.N51D	TAGLN2_ENST00000478033.1_5'UTR|TAGLN2_ENST00000320307.4_Missense_Mutation_p.N51D|TAGLN2_ENST00000368096.1_Missense_Mutation_p.N72D	NM_001277223.1|NM_003564.1	NP_001264152.1|NP_003555.1	P37802	TAGL2_HUMAN	transgelin 2	51	CH.				muscle organ development	nuclear membrane|plasma membrane	protein binding			endometrium(1)|large_intestine(2)|lung(6)	9	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCTGGAAGTTCTCGCGTCCA	0.587													C	159890149	T	C	159890149	3	2	291	1	0	0	0	0	1	0	0	0	15636	1783	62	3	464	3	TAGLN2	1	159890149	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	81467797	159890149	89360472	2	20190											
TAF1B	9014	broad.mit.edu	37	chr2	10016065	10016065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagggaatcgtgaagAtgaccatgccacagacactt	15	6	12	8	1	0	5	0	2	0	3	1	7	0	6	2	2	1	0	2	2	3	1			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr2:10016065A>G	ENST00000263663.5	+	7	813	c.625A>G	c.(625-627)Atg>Gtg	p.M209V	TAF1B_ENST00000396242.3_Intron	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	209					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATCGTGAAGATGACCATGCC	0.413													G	10016065	A	G	10016065	3	3	291	1	0	0	0	0	1	0	0	0	15617	333	12	3	651	3	TAF1B	2	10016065	Missense_Mutation	SNP	A	TCGA-CS-5394-01A-01D-1468-08		10016065	233183308	3	20191											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	291	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08	199097047	209113112	34086261	4	20192											
PBRM1	55193	broad.mit.edu	37	chr3	52621372	52621372	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaatgagtttcttaccttGacaaacatgaccacacactt	13	14	4	10	0	1	3	0	3	1	0	1	3	1	3	2	0	2	1	2	0	3	6			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr3:52621372G>C	ENST00000356770.4	-	18	3026	c.3024C>G	c.(3022-3024)gtC>gtG	p.V1008V	PBRM1_ENST00000410007.1_Silent_p.V1015V|PBRM1_ENST00000296302.7_Silent_p.V1040V|PBRM1_ENST00000409767.1_Silent_p.V1055V|PBRM1_ENST00000394830.3_Silent_p.V1015V|PBRM1_ENST00000409057.1_Silent_p.V1040V|PBRM1_ENST00000409114.3_Silent_p.V1055V|PBRM1_ENST00000337303.4_Silent_p.V1040V			Q86U86	PB1_HUMAN	polybromo 1	1040	BAH 1.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCTTACCTTGACAAACATGA	0.318			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								C	52621372	G	C	52621372	2	2	291	1	0	0	0	0	0	0	0	1	11567	1277	45	4		4	PBRM1	3	52621372	Silent	SNP	G	TCGA-CS-5394-01A-01D-1468-08		52621372	145401058	5	20193											
PCDH10	57575	broad.mit.edu	37	chr4	134071550	134071553	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															atagaccgcgaacaaatctgCaaacagagcccctcctgtgt																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:134071550_134071553delCAAA	ENST00000264360.5	+	1	1081_1084	c.255_258delCAAA	c.(253-258)tgcaaafs	p.CK85fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.C85*(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		AACAAATCTGCAAACAGAGCCCCT	0.549													-	134071553	CAAA	-	134071550	7	5	291	1	0	1	0	1	0	0	0	0	11583	718	25	0	257	0	PCDH10	4	134071550	Frame_Shift_Del	DEL	CAAA	TCGA-CS-5394-01A-01D-1468-08		134071550	57082726	6	20194											
FSTL5	56884	broad.mit.edu	37	chr4	162841556	162841556	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttcacccttcatttacCtttaaagaagcagtcttcat	12	14	5	10	0	4	1	3	0	1	1	4	1	4	1	2	1	2	2	2	1	5	7			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr4:162841556C>T	ENST00000306100.5	-	4	845	c.409G>A	c.(409-411)Gga>Aga	p.G137R	FSTL5_ENST00000536695.1_Splice_Site_p.G136R|FSTL5_ENST00000427802.2_Splice_Site_p.G136R|FSTL5_ENST00000379164.4_Splice_Site_p.G136R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	137						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CTTCATTTACCTTTAAAGAAG	0.378													T	162841556	C	T	162841556	5	4	291	1	0	0	0	0	0	0	1	0	6132	695	24	2	2186	2	FSTL5	4	162841556	Splice_Site	SNP	C	TCGA-CS-5394-01A-01D-1468-08	28770006	162841556	28312720	7	20195											
PIK3R1	5295	broad.mit.edu	37	chr5	67589586	67589591	+	In_Frame_Del	DEL	ATGAAT	ATGAAT	-																															agctgtagggaaaaaattacAtgaatataacactcagtttc																								rs17852841		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr5:67589586_67589591delATGAAT	ENST00000521381.1	+	11	1965_1970	c.1349_1354delATGAAT	c.(1348-1356)catgaatat>cat	p.EY451del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.EY451del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EY451del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.EY151del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EY88del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EY181del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EY451del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	451			E -> K (in dbSNP:rs17852841).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.H450_E451del(2)|p.G446_Y452>VI(1)|p.Y152N(1)|p.0?(1)|p.?(1)|p.Y452N(1)|p.Y182N(1)|p.E451_Y452del(1)|p.N453_T454insN(1)|p.E451_Y452delEY(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAAAATTACATGAATATAACACTCA	0.277			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589591	ATGAAT	-	67589586	7	5	291	1	0	1	0	1	0	0	0	0	11995	217	8	0	1517	0	PIK3R1	5	67589586	In_Frame_Del	DEL	ATGAAT	TCGA-CS-5394-01A-01D-1468-08		67589586	113325674	8	20196											
PAX4	5078	broad.mit.edu	37	chr7	127255106	127255106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctccaagacacctgtgCggtagtaacgccctaggatc	9	9	11	12	2	0	1	0	0	0	1	2	2	1	2	3	3	2	3	3	3	4	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr7:127255106C>T	ENST00000341640.2	-	2	369	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PAX4_ENST00000378740.2_Missense_Mutation_p.R55H|PAX4_ENST00000463946.1_Missense_Mutation_p.R53H|PAX4_ENST00000338516.3_Missense_Mutation_p.R63H	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	63	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GACACCTGTGCGGTAGTAACG	0.572													T	127255106	C	T	127255106	3	4	291	1	0	0	0	0	1	0	0	0	11557	768	27	1	899	1	PAX4	7	127255106	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		127255106	31883557	9	20197											
BHLHE22	27319	broad.mit.edu	37	chr8	65494037	65494038	+	In_Frame_Ins	INS	-	-	AGCAGC																															gcggcagcagcagcagcagcINSagcagcagcagcaagaaatc																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr8:65494037_65494038insAGCAGC	ENST00000321870.1	+	1	1224_1225	c.690_691insAGCAGC	c.(691-693)agc>AGCAGCagc	p.231_231S>SSS	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	231	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						gcagcagcagcagcagcagcag	0.698													AGCAGC	65494038	-	AGCAGC	65494037	7	5	291	1	0	1	1	0	0	0	0	0	1427	709	25	0	692	0	BHLHE22	8	65494037	In_Frame_Ins	INS	-	TCGA-CS-5394-01A-01D-1468-08		65494037	80869985	10	20198											
HSPA5	3309	broad.mit.edu	37	chr9	128001229	128001229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaacataccatgttgagCtcttcaaatttggcccgagt	12	11	9	9	1	2	1	1	1	1	0	2	3	2	2	2	2	3	2	2	2	4	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:128001229C>T	ENST00000324460.6	-	5	1190	c.987G>A	c.(985-987)gaG>gaA	p.E329E		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	329					anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Antihemophilic Factor(DB00025)	CCATGTTGAGCTCTTCAAATT	0.418										Prostate(1;0.17)			T	128001229	C	T	128001229	2	4	291	1	0	0	0	0	0	0	0	1	7471	796	28	2		2	HSPA5	9	128001229	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		128001229	13212202	11	20199											
ANGPTL2	23452	broad.mit.edu	37	chr9	129853996	129853996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtggtgaactgcttgccgTtgtgccatgtaaaggagtca	8	11	15	7	1	1	1	1	1	0	0	1	2	1	2	2	3	4	3	2	3	3	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr9:129853996T>C	ENST00000373425.3	-	4	1852	c.1235A>G	c.(1234-1236)aAc>aGc	p.N412S	RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Missense_Mutation_p.N110S|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000424082.2_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	412	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CTGCTTGCCGTTGTGCCATGT	0.537													C	129853996	T	C	129853996	3	2	291	1	0	0	0	0	1	0	0	0	614	1725	60	3	254	3	ANGPTL2	9	129853996	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	1852767	129853996	11359435	12	20200											
HKDC1	80201	broad.mit.edu	37	chr10	71007297	71007297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagaacaagaaggtggaaCggctccggaccacagtgggc	12	3	17	9	2	0	2	0	0	0	2	1	5	1	4	2	6	2	1	2	6	4	0			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:71007297C>T	ENST00000354624.5	+	9	1346	c.1213C>T	c.(1213-1215)Cgg>Tgg	p.R405W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R405W|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	405					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GAAGGTGGAACGGCTCCGGAC	0.612													T	71007297	C	T	71007297	3	4	291	1	0	0	0	0	1	0	0	0	7248	527	19	1	1247	1	HKDC1	10	71007297	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		71007297	64527450	13	20201											
ACTA2	59	broad.mit.edu	37	chr10	90708581	90708581	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtctgggacgtcccacaAtggatgggaaaacagccctg	11	7	13	10	1	1	0	0	0	1	0	2	4	2	3	2	3	2	0	2	3	3	0			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr10:90708581A>G	ENST00000458208.1	-	2	581	c.107T>C	c.(106-108)aTt>aCt	p.I36T	STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000224784.6_Missense_Mutation_p.I36T|ACTA2_ENST00000480297.1_5'UTR	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta	36					response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		ACGTCCCACAATGGATGGGAA	0.502													G	90708581	A	G	90708581	3	3	291	1	0	0	0	0	1	0	0	0	192	101	4	3	1058	3	ACTA2	10	90708581	Missense_Mutation	SNP	A	TCGA-CS-5394-01A-01D-1468-08	19701284	90708581	44826166	14	20202											
MEN1	4221	broad.mit.edu	37	chr11	64573758	64573758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggcttcccgcacattgCggttgcgacagtggtagcca	7	8	14	12	3	0	0	0	0	0	0	1	1	1	0	2	3	3	5	2	3	1	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr11:64573758C>T	ENST00000337652.1	-	7	1513	c.1010G>A	c.(1009-1011)cGc>cAc	p.R337H	MEN1_ENST00000443283.1_Missense_Mutation_p.R337H|MEN1_ENST00000377326.3_Missense_Mutation_p.R332H|MEN1_ENST00000315422.4_Missense_Mutation_p.R332H|MEN1_ENST00000377313.1_Missense_Mutation_p.R337H|MEN1_ENST00000377321.1_Missense_Mutation_p.R297H|MEN1_ENST00000394374.2_Missense_Mutation_p.R337H|MEN1_ENST00000312049.6_Missense_Mutation_p.R332H|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000377316.2_Missense_Mutation_p.R332H|MEN1_ENST00000394376.1_Missense_Mutation_p.R337H	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	337	Interaction with FANCD2.				DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						CCGCACATTGCGGTTGCGACA	0.602			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated		OREG0004014	type=REGULATORY REGION|Gene=MEN1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	64573758	C	T	64573758	3	4	291	1	0	0	0	0	1	0	0	0	9547	768	27	1	853	1	MEN1	11	64573758	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		64573758	70432758	15	20203											
FOLH1B	219595	broad.mit.edu	37	chr11	89405323	89405326	+	RNA	DEL	TTTA	TTTA	-																															ttggttggttaattatattgTttatttatttttgcatttat																								rs34562444		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr11:89405323_89405326delTTTA	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						aattatattgtttatttatttttg	0.23													-	89405326	TTTA	-	89405323	6	5	291	0	1	1	0	1	0	0	0	0	6029	1740	60	0		0	FOLH1B	11	89405323	RNA	DEL	TTTA	TCGA-CS-5394-01A-01D-1468-08	24831565	89405323	45601193	16	20204											
MTUS2	23281	broad.mit.edu	37	chr13	29600879	29600879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatgcctcttccccacgaaGagaaggcagcaggtggtgac	10	6	12	13	1	1	2	0	1	1	1	2	4	2	2	4	3	2	2	4	3	2	1			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr13:29600879G>A	ENST00000431530.3	+	1	2132	c.2074G>A	c.(2074-2076)Gag>Aag	p.E692K		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	682	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TCCCCACGAAGAGAAGGCAGC	0.587													A	29600879	G	A	29600879	3	1	291	1	0	0	0	0	1	0	0	0	10042	943	33	2	2076	2	MTUS2	13	29600879	Missense_Mutation	SNP	G	TCGA-CS-5394-01A-01D-1468-08		29600879	85568999	17	20205											
CPNE6	9362	broad.mit.edu	37	chr14	24543956	24543956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagctgggagccgttccgCctgtccctgcattccctatg	4	10	10	17	2	0	0	0	0	0	0	3	1	3	1	6	1	3	3	6	1	1	3	rs149746359		TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:24543956C>T	ENST00000397016.2	+	8	935	c.624C>T	c.(622-624)cgC>cgT	p.R208R	CPNE6_ENST00000537691.1_Silent_p.R263R|CPNE6_ENST00000216775.2_Silent_p.R208R	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	208	C2 2.				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)		AGCCGTTCCGCCTGTCCCTGC	0.552													T	24543956	C	T	24543956	2	4	291	1	0	0	0	0	0	0	0	1	3847	726	26	2		2	CPNE6	14	24543956	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		24543956	82805584	18	20206											
AKAP6	9472	broad.mit.edu	37	chr14	33293788	33293788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaaaaggaaagttccGgaaaaccaggtgaatctgga	17	6	12	6	1	1	2	0	2	1	0	2	5	2	5	2	4	1	1	2	4	6	1	rs140237441	byFrequency	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:33293788G>A	ENST00000280979.4	+	13	6939	c.6769G>A	c.(6769-6771)Gga>Aga	p.G2257R	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2257					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding	p.G2257R(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GGAAAGTTCCGGAAAACCAGG	0.438													A	33293788	G	A	33293788	3	1	291	1	0	0	0	0	1	0	0	0	455	1117	39	1	6815	1	AKAP6	14	33293788	Missense_Mutation	SNP	G	TCGA-CS-5394-01A-01D-1468-08	8749832	33293788	74055752	19	20207											
JKAMP	51528	broad.mit.edu	37	chr14	59970666	59970666	+	Missense_Mutation	SNP	T	T	A																															aataatctccatttccagagTggataaacttgagcaagatt																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970666T>A	ENST00000554271.1	+	7	1380	c.854T>A	c.(853-855)gTg>gAg	p.V285E	JKAMP_ENST00000425728.2_Missense_Mutation_p.V265E|JKAMP_ENST00000356057.5_Missense_Mutation_p.V279E|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Missense_Mutation_p.V271E	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						ATTTCCAGAGTGGATAAACTT	0.398													A	59970666	T	A	59970666	3	1	291	1	0	0	0	0	1	0	0	0	8007	1696	59	5	838	5	JKAMP	14	59970666	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	26676878	59970666	47378874	20	20208	27	2									
JKAMP	51528	broad.mit.edu	37	chr14	59970667	59970667	+	Silent	SNP	G	G	A																															ataatctccatttccagagtGgataaacttgagcaagattt																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr14:59970667G>A	ENST00000554271.1	+	7	1381	c.855G>A	c.(853-855)gtG>gtA	p.V285V	JKAMP_ENST00000425728.2_Silent_p.V265V|JKAMP_ENST00000356057.5_Silent_p.V279V|RP11-701B16.2_ENST00000554253.1_RNA|JKAMP_ENST00000261247.9_Silent_p.V271V	NM_001284201.1	NP_001271130.1	Q9P055	JKAMP_HUMAN	JNK1/MAPK8-associated membrane protein	286					ER-associated protein catabolic process|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ubiquitin protein ligase binding			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						TTTCCAGAGTGGATAAACTTG	0.398													A	59970667	G	A	59970667	2	1	291	1	0	0	0	0	0	0	0	1	8007	1335	47	2		2	JKAMP	14	59970667	Silent	SNP	G	TCGA-CS-5394-01A-01D-1468-08	1	59970667	47378873	21	20209	27	2									
RYR3	6263	broad.mit.edu	37	chr15	33822854	33822854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcagttctcctgaggcactCtttcagcggaatggtaagca	9	11	11	10	1	3	1	1	1	2	0	4	2	3	2	1	3	3	5	1	3	2	3			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:33822854C>G	ENST00000389232.4	+	4	411	c.341C>G	c.(340-342)tCt>tGt	p.S114C	RYR3_ENST00000415757.3_Missense_Mutation_p.S114C	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	114	MIR 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGGCACTCTTTCAGCGGA	0.512													G	33822854	C	G	33822854	3	3	291	1	0	0	0	0	1	0	0	0	13861	913	32	4	355	4	RYR3	15	33822854	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08		33822854	68708538	22	20210											
MFAP1	4236	broad.mit.edu	37	chr15	44109449	44109449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttccacatcttcactaaTacggttctgtaaacgccgta	10	13	5	13	3	4	0	1	0	3	0	5	0	5	0	2	1	2	3	2	1	5	7			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr15:44109449T>C	ENST00000267812.3	-	2	509	c.277A>G	c.(277-279)Att>Gtt	p.I93V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	93						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TCTTCACTAATACGGTTCTGT	0.398													C	44109449	T	C	44109449	3	2	291	1	0	0	0	0	1	0	0	0	9588	1406	49	3	1074	3	MFAP1	15	44109449	Missense_Mutation	SNP	T	TCGA-CS-5394-01A-01D-1468-08	10286595	44109449	58421943	23	20211											
CIC	23152	broad.mit.edu	37	chr19	42798786	42798787	+	Frame_Shift_Ins	INS	-	-	A																															gaggacgtgcttggggagctINSagagtatgacaaggtgccat																										TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr19:42798786_42798787insA	ENST00000572681.2	+	20	7144_7145	c.7076_7077insA	c.(7075-7080)ctagagfs	p.E2360fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.E1452fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.E1454fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1454					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTGGGGAGCTAGAGTATGACA	0.644			"Mis, F, S"		oligodendroglioma								A	42798787	-	A	42798786	7	5	291	1	0	1	1	0	0	0	0	0	3454	1522	53	0	4432	0	CIC	19	42798786	Frame_Shift_Ins	INS	-	TCGA-CS-5394-01A-01D-1468-08		42798786	16330197	24	20212											
SULF2	55959	broad.mit.edu	37	chr20	46305256	46305256	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcccagctgctcacaCgccgtctggtactcagcacg	7	8	9	17	3	3	0	2	0	1	0	4	0	4	0	3	1	4	4	3	1	1	1			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:46305256C>A	ENST00000359930.4	-	10	2213	c.1362G>T	c.(1360-1362)gcG>gcT	p.A454A	SULF2_ENST00000484875.1_Silent_p.A454A|SULF2_ENST00000361612.4_Silent_p.A454A|SULF2_ENST00000467815.1_Silent_p.A454A	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	454					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						GCTGCTCACACGCCGTCTGGT	0.612													A	46305256	C	A	46305256	2	1	291	1	0	0	0	0	0	0	0	1	15467	523	19	4		4	SULF2	20	46305256	Silent	SNP	C	TCGA-CS-5394-01A-01D-1468-08		46305256	16720264	25	20213											
LSM14B	149986	broad.mit.edu	37	chr20	60701373	60701373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgttcagtcttccctgggttCtgcctccgcctcgcccttcc	1	14	8	18	2	3	0	1	0	2	0	7	0	6	0	6	1	1	2	6	1	0	4			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr20:60701373C>G	ENST00000253001.4	+	3	511	c.305C>G	c.(304-306)tCt>tGt	p.S102C	LSM14B_ENST00000279068.6_Missense_Mutation_p.S102C|LSM14B_ENST00000370915.1_Missense_Mutation_p.S102C			Q9BX40	LS14B_HUMAN	LSM14B, SCD6 homolog B (S. cerevisiae)	102					multicellular organismal development|regulation of translation	ribonucleoprotein complex				endometrium(3)|kidney(1)|lung(4)	8	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			TCCCTGGGTTCTGCCTCCGCC	0.657													G	60701373	C	G	60701373	3	3	291	1	0	0	0	0	1	0	0	0	9125	913	32	4	315	4	LSM14B	20	60701373	Missense_Mutation	SNP	C	TCGA-CS-5394-01A-01D-1468-08	14396117	60701373	2324147	26	20214											
BAGE2	85319	broad.mit.edu	37	chr21	11085907	11085912	+	RNA	DEL	CACCAT	CACCAT	-																															accaccaccaccaccatcacCaccatcaccactaccaccac																								rs76096695	by1000genomes	TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chr21:11085907_11085912delCACCAT	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccatcaccaccatcaccactacc	0.558													-	11085912	CACCAT	-	11085907	6	5	291	0	1	1	0	1	0	0	0	0	1297	609	21	0		0	BAGE2	21	11085907	RNA	DEL	CACCAT	TCGA-CS-5394-01A-01D-1468-08		11085907	37043988	27	20215											
MED14	9282	broad.mit.edu	37	chrX	40572233	40572233	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaacatcagggtcatcTcccatcacagtcaaggtggc	11	8	10	12	0	5	0	4	0	1	0	6	1	5	1	1	4	1	0	1	4	2	0			TCGA-CS-5394-01A-01D-1468-08	TCGA-CS-5394-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2e67f766-3799-4ce1-8c9c-d966d96302bf	ed3dfb55-5905-4bb2-a497-276c2d8b43d2	g.chrX:40572233T>C	ENST00000324817.1	-	6	832	c.714A>G	c.(712-714)ggA>ggG	p.G238G		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	238	Interaction with STAT2.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGGGTCATCTCCCATCACAG	0.383													C	40572233	T	C	40572233	2	2	291	1	0	0	0	0	0	0	0	1	9507	1538	54	3		3	MED14	23	40572233	Silent	SNP	T	TCGA-CS-5394-01A-01D-1468-08		40572233	114698327	28	20216											
USP24	23358	broad.mit.edu	37	chr1	55638164	55638164	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcatgaatttcagtaccCcacttgtgaacagcacttga	11	12	6	12	0	2	3	2	3	0	0	2	3	2	3	3	0	3	2	3	0	3	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:55638164C>T	ENST00000294383.6	-	4	587	c.588G>A	c.(586-588)tgG>tgA	p.W196*	USP24_ENST00000407756.1_Nonsense_Mutation_p.W84*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	196					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TTTCAGTACCCCACTTGTGAA	0.368													T	55638164	C	T	55638164	4	4	292	1	0	0	0	0	0	1	0	0	17157	624	22	2	7534	2	USP24	1	55638164	Nonsense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		55638164	193612457	1	20217											
PDE4DIP	9659	broad.mit.edu	37	chr1	144879311	144879311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtaactgagagggacCggacccggctcttgaggttt	8	10	13	10	2	1	2	0	2	1	1	1	5	1	4	2	4	1	3	2	4	1	4			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:144879311C>T	ENST00000369359.4	-	30	4585	c.4547G>A	c.(4546-4548)cGg>cAg	p.R1516Q	PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R1336Q|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1516Q|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R1380Q|PDE4DIP_ENST00000524974.1_5'UTR			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1380					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAGAGGGACCGGACCCGGCT	0.498			T	PDGFRB	MPD								T	144879311	C	T	144879311	3	4	292	1	0	0	0	0	1	0	0	0	11719	652	23	1	2973	1	PDE4DIP	1	144879311	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	89241147	144879311	104371310	2	20218											
CD1A	909	broad.mit.edu	37	chr1	158226760	158226760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggacatggtatctccgCgcaaccctggaggtggccgc	7	7	15	12	3	1	0	0	0	1	0	2	3	1	2	3	5	1	2	3	5	2	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:158226760C>T	ENST00000289429.5	+	4	1322	c.789C>T	c.(787-789)cgC>cgT	p.R263R		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	263	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.R263R(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GGTATCTCCGCGCAACCCTGG	0.632													T	158226760	C	T	158226760	2	4	292	1	0	0	0	0	0	0	0	1	3004	755	27	1		1	CD1A	1	158226760	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08	13347449	158226760	91023861	3	20219											
LY9	4063	broad.mit.edu	37	chr1	160783596	160783596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaggctccattcttaccGtctcccgaacaccatgtgac	9	10	8	14	2	2	1	0	1	2	0	4	3	3	2	4	2	2	1	4	2	2	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:160783596G>A	ENST00000368037.5	+	3	739	c.625G>A	c.(625-627)Gtc>Atc	p.V209I	LY9_ENST00000341032.4_Missense_Mutation_p.V209I|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000368040.1_5'UTR|LY9_ENST00000263285.6_Missense_Mutation_p.V209I|LY9_ENST00000392203.4_Missense_Mutation_p.V209I|LY9_ENST00000368041.2_Missense_Mutation_p.V169I	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CATTCTTACCGTCTCCCGAAC	0.562													A	160783596	G	A	160783596	3	1	292	1	0	0	0	0	1	0	0	0	9172	1145	40	1	767	1	LY9	1	160783596	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	2556836	160783596	88467025	4	20220											
DDR2	4921	broad.mit.edu	37	chr1	162741843	162741843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgttgtgaagccagtccagCccagtggccctgagggggtg	6	8	17	10	0	0	2	0	2	0	0	1	2	1	2	4	3	2	1	4	3	1	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:162741843C>T	ENST00000367922.3	+	14	1972	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DDR2_ENST00000367921.3_Missense_Mutation_p.P512S	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2						cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			GCCAGTCCAGCCCAGTGGCCC	0.577													T	162741843	C	T	162741843	3	4	292	1	0	0	0	0	1	0	0	0	4371	739	26	2	1576	2	DDR2	1	162741843	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	1958247	162741843	86508778	5	20221											
OBSCN	84033	broad.mit.edu	37	chr1	228431148	228431148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggtctccttccgccTgcacatcacaggtgggtttc	6	10	11	14	1	2	1	1	0	1	1	5	1	3	1	4	3	1	2	4	3	0	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr1:228431148T>C	ENST00000570156.2	+	11	3544	c.3470T>C	c.(3469-3471)cTg>cCg	p.L1157P	OBSCN_ENST00000284548.11_Missense_Mutation_p.L1065P|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.L1065P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	95	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCCTTCCGCCTGCACATCACA	0.547													C	228431148	T	C	228431148	3	2	292	1	0	0	0	0	1	0	0	0	10888	1580	55	3	3228	3	OBSCN	1	228431148	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	65689305	228431148	20819473	6	20222											
ALK	238	broad.mit.edu	37	chr2	29456477	29456477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcctccgcctcctgccCactcatgcacgcttctgttc	3	12	5	21	2	2	0	1	0	1	0	7	0	6	0	6	0	2	3	6	0	0	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:29456477C>A	ENST00000389048.3	-	14	3347	c.2441G>T	c.(2440-2442)tGg>tTg	p.W814L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	814					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCCTCCTGCCCACTCATGCAC	0.483			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				A	29456477	C	A	29456477	3	1	292	1	0	0	0	0	1	0	0	0	525	595	21	4	2485	4	ALK	2	29456477	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		29456477	213742896	7	20223											
SLC30A6	55676	broad.mit.edu	37	chr2	32422896	32422896	+	Splice_Site	DEL	G	G	-																															tatatgctcattgaaattaaGtgagtattttttattgttgt																										TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:32422896delG	ENST00000282587.5	+	10	702		c.e10+1		SLC30A6_ENST00000406369.1_Splice_Site|SLC30A6_ENST00000379343.2_Splice_Site|SLC30A6_ENST00000435660.1_Splice_Site|SLC30A6_ENST00000538303.1_Splice_Site|SLC30A6_ENST00000357055.3_Splice_Site	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6							Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTGAAATTAAGTGAGTATTTT	0.373													-	32422896	G	-	32422896	8	5	292	1	0	1	0	1	0	0	1	0	14653	1043	36	0	704	0	SLC30A6	2	32422896	Splice_Site	DEL	G	TCGA-CS-5395-01A-01D-1468-08	2966419	32422896	210776477	8	20224											
COL6A3	1293	broad.mit.edu	37	chr2	238249727	238249727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccacatcgctccctgccGctctcctgtccctgaaggaa	6	10	8	17	2	1	1	0	1	1	0	6	2	4	2	5	1	1	2	5	1	2	0	rs114806654	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr2:238249727G>A	ENST00000295550.4	-	38	8284	c.7832C>T	c.(7831-7833)gCg>gTg	p.A2611V	COL6A3_ENST00000353578.4_Missense_Mutation_p.A2405V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A2004V|COL6A3_ENST00000409809.1_Missense_Mutation_p.A2405V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2410V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2411V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2611	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.A2611E(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTCCCTGCCGCTCTCCTGTC	0.512													A	238249727	G	A	238249727	3	1	292	1	0	0	0	0	1	0	0	0	3732	1087	38	1	1729	1	COL6A3	2	238249727	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	205826831	238249727	4949646	9	20225											
ATP2B2	491	broad.mit.edu	37	chr3	10452378	10452378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatctccaggatgatgagCgtcacgtcctgcagcgcctc	8	8	11	14	3	2	2	1	2	1	0	5	3	3	3	3	1	3	2	3	1	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:10452378C>T	ENST00000397077.1	-	5	896	c.321G>A	c.(319-321)acG>acA	p.T107T	ATP2B2_ENST00000352432.4_Silent_p.T107T|ATP2B2_ENST00000383800.4_Silent_p.T107T|ATP2B2_ENST00000360273.2_Silent_p.T107T|ATP2B2_ENST00000343816.4_Silent_p.T107T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GGATGATGAGCGTCACGTCCT	0.552													T	10452378	C	T	10452378	2	4	292	1	0	0	0	0	0	0	0	1	1145	755	27	1		1	ATP2B2	3	10452378	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08		10452378	187570052	10	20226											
SEMA3F	6405	broad.mit.edu	37	chr3	50225347	50225347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgccccgccacccccaggCgcaggccccccaacgcctcc	6	1	9	25	4	0	0	0	0	0	0	1	0	1	0	10	2	2	1	10	2	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:50225347C>T	ENST00000002829.3	+	19	2641	c.2157C>T	c.(2155-2157)ggC>ggT	p.G719G	SEMA3F_ENST00000413852.1_Silent_p.G620G|SEMA3F_ENST00000434342.1_Silent_p.G688G	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	719					axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CACCCCCAGGCGCAGGCCCCC	0.667													T	50225347	C	T	50225347	2	4	292	1	0	0	0	0	0	0	0	1	14122	755	27	1		1	SEMA3F	3	50225347	Silent	SNP	C	TCGA-CS-5395-01A-01D-1468-08	39772969	50225347	147797083	11	20227											
KPNA4	3840	broad.mit.edu	37	chr3	160239655	160239655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtatttgttcattgccaGcatcagtaaggtaagagagg	11	13	11	6	0	3	1	2	0	1	1	3	2	3	1	1	2	2	5	1	2	3	6			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr3:160239655G>A	ENST00000334256.4	-	11	1120	c.815C>T	c.(814-816)gCt>gTt	p.A272V		NM_002268.4	NP_002259.1	O00629	IMA4_HUMAN	karyopherin alpha 4 (importin alpha 3)	272					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)	22			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			TTCATTGCCAGCATCAGTAAG	0.353													A	160239655	G	A	160239655	3	1	292	1	0	0	0	0	1	0	0	0	8490	971	34	2	778	2	KPNA4	3	160239655	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	110014308	160239655	37782775	12	20228											
PDE6B	5158	broad.mit.edu	37	chr4	647918	647918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagagtcccagccgtactCgggcccacgcacgcctgatg	7	5	14	15	4	0	2	0	1	0	1	2	3	1	2	4	2	2	2	4	2	1	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:647918C>T	ENST00000255622.6	+	5	945	c.902C>T	c.(901-903)tCg>tTg	p.S301L	PDE6B_ENST00000496514.1_Missense_Mutation_p.S301L|RP11-1191J2.2_ENST00000468356.1_RNA|RP11-1191J2.2_ENST00000489312.1_RNA|PDE6B_ENST00000429163.2_Missense_Mutation_p.S22L	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	301	GAF 2.				cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CAGCCGTACTCGGGCCCACGC	0.647													T	647918	C	T	647918	3	4	292	1	0	0	0	0	1	0	0	0	11722	893	31	1	920	1	PDE6B	4	647918	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		647918	190506358	13	20229											
PITX2	5308	broad.mit.edu	37	chr4	111539762	111539762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagcccattgaactgcGgcccgaagccattcttgcat	9	9	10	13	2	1	2	0	2	1	0	1	3	1	2	3	1	5	2	3	1	2	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:111539762G>A	ENST00000354925.2	-	7	2178	c.473C>T	c.(472-474)cCg>cTg	p.P158L	PITX2_ENST00000394595.3_Silent_p.A89A|PITX2_ENST00000355080.5_Missense_Mutation_p.P112L|PITX2_ENST00000394598.2_Missense_Mutation_p.P158L|PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000306732.3_Missense_Mutation_p.P165L	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	158					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		ATTGAACTGCGGCCCGAAGCC	0.592													A	111539762	G	A	111539762	3	1	292	1	0	0	0	0	1	0	0	0	12032	1116	39	1	484	1	PITX2	4	111539762	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	110891844	111539762	79614514	14	20230											
EDNRA	1909	broad.mit.edu	37	chr4	148407184	148407184	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggaatggccccaacgcGctgatagccagtcttgccct	9	8	11	13	2	1	2	0	2	1	0	1	3	1	3	4	2	3	1	4	2	3	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr4:148407184G>T	ENST00000324300.5	+	2	866	c.351G>T	c.(349-351)gcG>gcT	p.A117A	EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000339690.5_Silent_p.A117A|EDNRA_ENST00000358556.4_Silent_p.A117A|EDNRA_ENST00000506066.1_Silent_p.A117A	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	117					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	GCCCCAACGCGCTGATAGCCA	0.423													T	148407184	G	T	148407184	2	4	292	1	0	0	0	0	0	0	0	1	4958	1074	38	4		4	EDNRA	4	148407184	Silent	SNP	G	TCGA-CS-5395-01A-01D-1468-08	36867422	148407184	42747092	15	20231											
TRIP13	9319	broad.mit.edu	37	chr5	908507	908507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgaaatgcctgcagggCgggcaccgagccatcagatg	9	4	14	14	4	1	1	1	0	0	1	1	3	1	1	4	2	3	2	4	2	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:908507C>T	ENST00000166345.3	+	9	1153	c.797C>T	c.(796-798)gCg>gTg	p.A266V		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	266					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			GCCTGCAGGGCGGGCACCGAG	0.562													T	908507	C	T	908507	3	4	292	1	0	0	0	0	1	0	0	0	16658	768	27	1	831	1	TRIP13	5	908507	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		908507	180006753	16	20232											
CDH12	1010	broad.mit.edu	37	chr5	21817101	21817101	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatcctcatctgtgacgaTgtcaaacaaatttcccccat	11	13	5	12	1	3	1	2	1	1	0	5	2	5	1	3	0	1	1	3	0	3	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:21817101T>G	ENST00000382254.1	-	9	2041	c.955A>C	c.(955-957)Atc>Ctc	p.I319L	CDH12_ENST00000522262.1_Missense_Mutation_p.I279L|CDH12_ENST00000504376.2_Missense_Mutation_p.I319L|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	319	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TCTGTGACGATGTCAAACAAA	0.348										HNSCC(59;0.17)			G	21817101	T	G	21817101	3	3	292	1	0	0	0	0	1	0	0	0	3128	1464	51	5	1457	5	CDH12	5	21817101	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	20908594	21817101	159098159	17	20233											
TRPC7	57113	broad.mit.edu	37	chr5	135610458	135610458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagcgatagactgttgaCgtaagcctgagagattttca	12	11	10	8	2	2	4	2	2	0	2	2	6	2	4	1	0	2	2	1	0	2	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:135610458C>T	ENST00000513104.1	-	4	1313	c.1031G>A	c.(1030-1032)cGt>cAt	p.R344H	TRPC7_ENST00000355180.3_Missense_Mutation_p.R283H|TRPC7_ENST00000426057.2_Intron	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	344					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding	p.R344H(2)		NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGACTGTTGACGTAAGCCTGA	0.438													T	135610458	C	T	135610458	3	4	292	1	0	0	0	0	1	0	0	0	16685	536	19	1	1593	1	TRPC7	5	135610458	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	113793357	135610458	45304802	18	20234											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719281	140719281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttacacagcccgagtaccGcataagcattccggagaata	13	9	8	11	3	0	1	0	0	0	1	1	3	1	1	3	1	4	3	3	1	5	6			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:140719281G>A	ENST00000394576.2	+	1	743	c.743G>A	c.(742-744)cGc>cAc	p.R248H	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACCGCATAAGCATT	0.557													A	140719281	G	A	140719281	3	1	292	1	0	0	0	0	1	0	0	0	11630	1087	38	1	745	1	PCDHGA2	5	140719281	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	5108823	140719281	40195979	19	20235											
ATP10B	23120	broad.mit.edu	37	chr5	160025790	160025790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttacctcagagttctggCcactcttgtatagctcaggc	7	13	8	13	0	4	1	2	0	2	1	5	1	5	1	3	2	2	3	3	2	3	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr5:160025790C>A	ENST00000327245.5	-	22	4397	c.3551G>T	c.(3550-3552)gGc>gTc	p.G1184V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1184					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAGTTCTGGCCACTCTTGTA	0.502													A	160025790	C	A	160025790	3	1	292	1	0	0	0	0	1	0	0	0	1122	739	26	4	854	4	ATP10B	5	160025790	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	19306509	160025790	20889470	20	20236											
PKHD1	5314	broad.mit.edu	37	chr6	51613287	51613287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccagctgtgccaaacaCaatattgtcatttaaaagta	15	11	7	8	0	1	0	1	0	0	0	1	0	1	0	2	1	3	2	2	1	6	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51613287C>A	ENST00000371117.3	-	58	9402	c.9127G>T	c.(9127-9129)Gtg>Ttg	p.V3043L	PKHD1_ENST00000340994.4_Missense_Mutation_p.V3043L	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3043					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTGCCAAACACAATATTGTCA	0.493													A	51613287	C	A	51613287	3	1	292	1	0	0	0	0	1	0	0	0	12048	478	17	4	3176	4	PKHD1	6	51613287	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		51613287	119501780	21	20237											
PKHD1	5314	broad.mit.edu	37	chr6	51892973	51892973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttgtgagtgaatgctgaCcccattgatagagacggaaa	12	9	11	9	1	0	5	0	4	0	1	0	7	0	6	3	1	1	1	3	1	3	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:51892973C>A	ENST00000371117.3	-	30	3816	c.3541G>T	c.(3541-3543)Gtc>Ttc	p.V1181F	PKHD1_ENST00000340994.4_Missense_Mutation_p.V1181F	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1181	IPT/TIG 6; atypical.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TGAATGCTGACCCCATTGATA	0.498													A	51892973	C	A	51892973	3	1	292	1	0	0	0	0	1	0	0	0	12048	507	18	4	8874	4	PKHD1	6	51892973	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	279686	51892973	119222094	22	20238											
PHF3	23469	broad.mit.edu	37	chr6	64422637	64422637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagagtgacaatttaaaagTtgcacaaaactcaccatcag	17	8	7	9	0	2	2	2	1	0	1	2	2	2	2	1	0	2	3	1	0	5	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:64422637T>C	ENST00000262043.3	+	16	5493	c.5153T>C	c.(5152-5154)gTt>gCt	p.V1718A	PHF3_ENST00000393387.1_Missense_Mutation_p.V1718A			Q92576	PHF3_HUMAN	PHD finger protein 3	1718					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AATTTAAAAGTTGCACAAAAC	0.368													C	64422637	T	C	64422637	3	2	292	1	0	0	0	0	1	0	0	0	11913	1725	60	3	5211	3	PHF3	6	64422637	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	12529664	64422637	106692430	23	20239											
COL19A1	1310	broad.mit.edu	37	chr6	70866054	70866054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccaagccagtgtcccaggGctgaaaagcaacaaaggaga	15	4	12	10	0	0	2	0	1	0	1	1	3	1	2	3	2	4	2	3	2	5	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr6:70866054G>A	ENST00000322773.4	+	32	2217	c.2115G>A	c.(2113-2115)ggG>ggA	p.G705G	COL19A1_ENST00000393344.1_Silent_p.G327G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	705	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						GTGTCCCAGGGCTGAAAAGCA	0.473													A	70866054	G	A	70866054	2	1	292	1	0	0	0	0	0	0	0	1	3707	1190	42	2		2	COL19A1	6	70866054	Silent	SNP	G	TCGA-CS-5395-01A-01D-1468-08	6443417	70866054	100249013	24	20240											
CALN1	83698	broad.mit.edu	37	chr7	71252834	71252834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaggccatagcaaaggCgcatatgaggctcttccgga	12	7	13	9	2	1	2	0	2	1	0	2	4	2	3	2	4	1	3	2	4	4	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:71252834C>T	ENST00000395275.2	-	7	1100	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	CALN1_ENST00000431984.1_Missense_Mutation_p.A196T|CALN1_ENST00000405452.2_Missense_Mutation_p.A196T|CALN1_ENST00000412588.1_Missense_Mutation_p.A238T|CALN1_ENST00000395276.2_Missense_Mutation_p.A196T|CALN1_ENST00000329008.5_Missense_Mutation_p.A196T	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	196						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				ATAGCAAAGGCGCATATGAGG	0.567													T	71252834	C	T	71252834	3	4	292	1	0	0	0	0	1	0	0	0	2617	768	27	1	77	1	CALN1	7	71252834	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		71252834	87885829	25	20241											
MGAM	8972	broad.mit.edu	37	chr7	141770818	141770818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggatattaatgcaagaggaGagtggaagaccttgccagcc	13	8	13	7	0	0	3	0	0	0	3	0	6	0	5	3	3	3	1	3	3	4	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr7:141770818G>A	ENST00000475668.2	+	44	5140	c.5086G>A	c.(5086-5088)Gag>Aag	p.E1696K	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1696	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TGCAAGAGGAGAGTGGAAGAC	0.532													A	141770818	G	A	141770818	3	1	292	1	0	0	0	0	1	0	0	0	9616	957	33	2		2	MGAM	7	141770818	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	70517984	141770818	17367845	26	20242											
ADAM28	10863	broad.mit.edu	37	chr8	24200636	24200636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattaatgcagaatgtgTggatattgagaaagcctaca	14	12	10	5	0	0	2	0	1	0	2	0	4	0	3	1	1	4	2	1	1	5	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24200636T>C	ENST00000265769.4	+	17	1963	c.1853T>C	c.(1852-1854)gTg>gCg	p.V618A	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.V365A	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	618	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAGAATGTGTGGATATTGAG	0.383													C	24200636	T	C	24200636	3	2	292	1	0	0	0	0	1	0	0	0	246	1696	59	3	1975	3	ADAM28	8	24200636	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08		24200636	122163386	27	20243											
ADAM7	8756	broad.mit.edu	37	chr8	24346749	24346749	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattataagccaacatgcaTgctcaacattccatttcctt	12	13	5	11	0	1	0	1	0	0	0	3	1	3	1	3	1	5	2	3	1	4	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:24346749T>G	ENST00000175238.6	+	12	1252	c.1169T>G	c.(1168-1170)aTg>aGg	p.M390R	RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.M390R|RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000520720.1_Missense_Mutation_p.M162R	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	390	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCAACATGCATGCTCAACATT	0.398													G	24346749	T	G	24346749	3	3	292	1	0	0	0	0	1	0	0	0	251	1464	51	5	1215	5	ADAM7	8	24346749	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	146113	24346749	122017273	28	20244											
FER1L6	654463	broad.mit.edu	37	chr8	125094698	125094698	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcagagccagtatgagAtgtaagttctttctccccgg	8	12	11	10	1	2	2	0	1	2	2	3	3	2	2	3	1	2	5	3	1	2	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr8:125094698A>T	ENST00000522917.1	+	33	4596	c.4390A>T	c.(4390-4392)Ata>Tta	p.I1464L	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Splice_Site_p.I1464L	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1464						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CCAGTATGAGATGTAAGTTCT	0.512													T	125094698	A	T	125094698	5	4	292	1	0	0	0	0	0	0	1	0	5864	347	12	5	4516	5	FER1L6	8	125094698	Splice_Site	SNP	A	TCGA-CS-5395-01A-01D-1468-08	100747949	125094698	21269324	29	20245											
RFX3	5991	broad.mit.edu	37	chr9	3270522	3270522	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactttctatttcactcagAttgctggtgtgaataaatgt	10	16	8	7	1	3	2	2	1	1	1	3	3	3	2	0	1	1	1	0	1	4	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:3270522A>T	ENST00000382004.3	-	12	1517	c.1206T>A	c.(1204-1206)aaT>aaA	p.N402K	RFX3_ENST00000302303.1_Missense_Mutation_p.N402K|RFX3_ENST00000358730.2_Missense_Mutation_p.N402K	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	402					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTTCACTCAGATTGCTGGTGT	0.348													T	3270522	A	T	3270522	3	4	292	1	0	0	0	0	1	0	0	0	13352	330	12	5	1227	5	RFX3	9	3270522	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		3270522	137942909	30	20246											
TRPM6	140803	broad.mit.edu	37	chr9	77377508	77377508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctggacagaggcaagacaGtttctgctgaaaaaggaact	14	8	12	7	0	2	3	0	1	2	2	2	5	2	5	0	3	2	3	0	3	4	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:77377508G>T	ENST00000451710.3	-	26	4316	c.4079C>A	c.(4078-4080)aCt>aAt	p.T1360N	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000360774.1_Missense_Mutation_p.T1360N|TRPM6_ENST00000376864.4_Missense_Mutation_p.T1360N|TRPM6_ENST00000361255.3_Missense_Mutation_p.T1355N|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000449912.2_Missense_Mutation_p.T1355N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1360					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AGGCAAGACAGTTTCTGCTGA	0.507													T	77377508	G	T	77377508	3	4	292	1	0	0	0	0	1	0	0	0	16691	1029	36	4	2045	4	TRPM6	9	77377508	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	74106986	77377508	63835923	31	20247											
OR13C5	138799	broad.mit.edu	37	chr9	107361264	107361264	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccaggacccagctgccAtgggtacataggcatcctta	10	9	10	12	0	0	1	0	1	0	0	2	2	2	2	4	3	3	3	4	3	3	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107361264A>C	ENST00000374779.2	-	1	524	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						CCCAGCTGCCATGGGTACATA	0.473													C	107361264	A	C	107361264	3	2	292	1	0	0	0	0	1	0	0	0	11013	217	8	5	527	5	OR13C5	9	107361264	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08	29983756	107361264	33852167	32	20248											
OR13C2	392376	broad.mit.edu	37	chr9	107367478	107367478	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccaggacccagctgccAtgggtacataggcatcctta	10	9	10	12	0	0	1	0	1	0	0	2	2	2	2	4	3	3	3	4	3	3	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:107367478A>C	ENST00000542196.1	-	1	473	c.431T>G	c.(430-432)aTg>aGg	p.M144R		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						CCCAGCTGCCATGGGTACATA	0.468													C	107367478	A	C	107367478	3	2	292	1	0	0	0	0	1	0	0	0	11010	217	8	5	528	5	OR13C2	9	107367478	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08	6214	107367478	33845953	33	20249											
SVEP1	79987	broad.mit.edu	37	chr9	113217968	113217968	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcactcatcgatgtctGtttcacactttaagcctaca	9	13	7	12	1	3	0	2	0	1	0	4	1	3	0	1	1	3	3	1	1	2	4			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr9:113217968G>C	ENST00000401783.2	-	22	4025	c.3689C>G	c.(3688-3690)aCa>aGa	p.T1230R	SVEP1_ENST00000302728.8_Missense_Mutation_p.T1230R|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.T1207R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1230					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						ATCGATGTCTGTTTCACACTT	0.418													C	113217968	G	C	113217968	3	2	292	1	0	0	0	0	1	0	0	0	15516	1377	48	4	7134	4	SVEP1	9	113217968	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	5850490	113217968	27995463	34	20250											
PTEN	5728	broad.mit.edu	37	chr10	89711899	89711899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactattcccagtcagaggCgctatgtgtattattatagc	11	14	8	8	1	1	1	1	0	0	1	2	1	2	1	1	1	2	2	1	1	7	8	rs121913293		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr10:89711899C>T	ENST00000371953.3	+	6	1874	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	173	Phosphatase tensin-type.		R -> C (in endometrial hyperplasia; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains ability to bind phospholipid membranes).|R -> H (loss of phosphatase activity towards Ins(1,3,4,5)P4).|R -> P (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R173C(32)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.R173fs*10(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R172fs*5(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAGTCAGAGGCGCTATGTGTA	0.348	R173C(REH_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89711899	C	T	89711899	3	4	292	1	0	0	0	0	1	0	0	0	12823	768	27	1	539	1	PTEN	10	89711899	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		89711899	45822848	35	20251											
NUP160	23279	broad.mit.edu	37	chr11	47809761	47809761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcccttcaaagactggcGttaagggaagcttaaaagtc	14	8	10	9	1	1	1	1	0	0	1	2	2	1	2	1	2	2	2	1	2	6	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr11:47809761G>A	ENST00000378460.2	-	31	3765	c.3719C>T	c.(3718-3720)aCg>aTg	p.T1240M	NUP160_ENST00000530326.1_Missense_Mutation_p.T1126M	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1240					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding	p.T1240M(1)		NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						AAAGACTGGCGTTAAGGGAAG	0.398													A	47809761	G	A	47809761	3	1	292	1	0	0	0	0	1	0	0	0	10833	1145	40	1	615	1	NUP160	11	47809761	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		47809761	87196755	36	20252											
VWF	7450	broad.mit.edu	37	chr12	6219737	6219737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagccctttggaggcatagGgcatggagactctggagggc	9	7	16	9	0	1	1	0	0	1	1	1	4	1	3	1	6	1	2	1	6	1	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:6219737G>A	ENST00000261405.5	-	5	589	c.335C>T	c.(334-336)cCc>cTc	p.P112L	VWF_ENST00000572068.1_Missense_Mutation_p.P149L	NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	112	VWFD 1.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGGCATAGGGCATGGAGAC	0.537													A	6219737	G	A	6219737	3	1	292	1	0	0	0	0	1	0	0	0	17348	1232	43	2	8298	2	VWF	12	6219737	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		6219737	127632158	37	20253											
MYL6	4637	broad.mit.edu	37	chr12	56553401	56553401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccttccagctgtttgaccGaacaggtgatggcaagatcc	9	9	12	11	1	0	3	0	2	0	1	2	4	2	3	4	3	2	3	4	3	2	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:56553401G>A	ENST00000551589.1	+	3	95	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	MYL6_ENST00000550697.1_Missense_Mutation_p.R21Q|MYL6_ENST00000547408.1_Missense_Mutation_p.R21Q|MYL6_ENST00000549566.1_Intron|MYL6_ENST00000548400.1_Missense_Mutation_p.R21Q|MYL6_ENST00000548580.1_Intron|MYL6_ENST00000548293.1_Missense_Mutation_p.R21Q|MYL6_ENST00000547649.1_Missense_Mutation_p.R21Q|MYL6_ENST00000348108.4_Missense_Mutation_p.R22Q|MYL6_ENST00000549017.1_5'UTR|MYL6_ENST00000293422.5_Missense_Mutation_p.R22Q|MYL6_ENST00000536128.1_Missense_Mutation_p.R114Q			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	21	EF-hand 1.				axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			CTGTTTGACCGAACAGGTGAT	0.547													A	56553401	G	A	56553401	3	1	292	1	0	0	0	0	1	0	0	0	10127	1058	37	1	72	1	MYL6	12	56553401	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	50333664	56553401	77298494	38	20254											
PTPN11	5781	broad.mit.edu	37	chr12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatggaggggagaaatttgCcactttggctgagttggtcc	8	12	15	6	0	0	2	0	1	0	1	1	4	1	3	2	5	1	3	2	5	2	4	rs121918454		TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112888199	C	A	112888199	3	1	292	1	0	0	0	0	1	0	0	0	12866	739	26	4	225	4	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	56334798	112888199	20963696	39	20255											
SUPT16H	11198	broad.mit.edu	37	chr14	21821703	21821703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccactctcttcttcactaCccaatgactccttagaatag	10	14	3	14	0	3	2	1	1	2	1	6	2	5	2	3	0	1	0	3	0	5	6			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:21821703C>T	ENST00000216297.2	-	25	3280	c.2942G>A	c.(2941-2943)gGt>gAt	p.G981D		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	981	Glu-rich (acidic).				DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		TTCTTCACTACCCAATGACTC	0.373													T	21821703	C	T	21821703	3	4	292	1	0	0	0	0	1	0	0	0	15492	507	18	2	209	2	SUPT16H	14	21821703	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		21821703	85527837	40	20256											
CLEC14A	161198	broad.mit.edu	37	chr14	38723809	38723809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggcaccctctgctctGtcccgcagatcacagtcccc	8	7	8	18	1	3	1	1	0	2	1	5	1	5	1	4	1	2	4	4	1	1	0	rs146958080	byFrequency	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:38723809G>T	ENST00000342213.2	-	1	1765	c.1419C>A	c.(1417-1419)gaC>gaA	p.D473E		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	473						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CCTCTGCTCTGTCCCGCAGAT	0.572													T	38723809	G	T	38723809	3	4	292	1	0	0	0	0	1	0	0	0	3530	1368	48	4	57	4	CLEC14A	14	38723809	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	16902106	38723809	68625731	41	20257											
C14orf182	283551	broad.mit.edu	37	chr14	50472373	50472373	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagacgaaatgtctgtgtcGtagaactgtgtgtgatcttg	10	13	13	5	2	2	3	0	1	2	2	3	5	2	3	0	0	1	1	0	0	4	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:50472373G>A	ENST00000399206.1	-	1	1865	c.145C>T	c.(145-147)Cga>Tga	p.R49*	C14orf182_ENST00000529902.1_5'UTR	NM_001012706.1	NP_001012724.1	A1A4T8	CN182_HUMAN	chromosome 14 open reading frame 182	49								p.R49*(1)		large_intestine(2)|urinary_tract(1)	3						TGTCTGTGTCGTAGAACTGTG	0.527													A	50472373	G	A	50472373	4	1	292	1	0	0	0	0	0	1	0	0	1778	1153	40	1	190	1	C14orf182	14	50472373	Nonsense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	11748564	50472373	56877167	42	20258											
SIPA1L1	26037	broad.mit.edu	37	chr14	72138006	72138006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcaactcggacccGccaggaatacctgaaagatc	12	5	11	13	2	0	2	0	1	0	1	2	4	0	4	4	4	2	1	4	4	4	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr14:72138006G>A	ENST00000555818.1	+	8	2774	c.2426G>A	c.(2425-2427)cGc>cAc	p.R809H	SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R284H|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R809H|SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R809H	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	809	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		ACTCGGACCCGCCAGGAATAC	0.473													A	72138006	G	A	72138006	3	1	292	1	0	0	0	0	1	0	0	0	14423	1087	38	1	2452	1	SIPA1L1	14	72138006	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	21665633	72138006	35211534	43	20259											
ATP8B4	79895	broad.mit.edu	37	chr15	50288937	50288937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaactgatagtgcatggcGgacttttaggttcgtttccc	8	14	11	8	2	0	1	0	1	0	0	2	2	1	2	1	3	2	4	1	3	3	6	rs116334504	by1000genomes	TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:50288937G>A	ENST00000284509.6	-	9	667	c.526C>T	c.(526-528)Cgc>Tgc	p.R176C	ATP8B4_ENST00000558959.1_5'UTR|ATP8B4_ENST00000559829.1_Missense_Mutation_p.R176C	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	176					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		AGTGCATGGCGGACTTTTAGG	0.398													A	50288937	G	A	50288937	3	1	292	1	0	0	0	0	1	0	0	0	1202	1116	39	1	3132	1	ATP8B4	15	50288937	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		50288937	52242455	44	20260											
CSPG4	1464	broad.mit.edu	37	chr15	75981730	75981730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaccatgaggctgccaTgtgggaagatgatgtggggt	9	9	17	6	0	1	3	1	2	0	1	1	5	1	5	2	5	1	1	2	5	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr15:75981730T>C	ENST00000308508.5	-	3	1768	c.1676A>G	c.(1675-1677)cAt>cGt	p.H559R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	559	Globular or compact configuration stabilized by disulfide bonds.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GAGGCTGCCATGTGGGAAGAT	0.612													C	75981730	T	C	75981730	3	2	292	1	0	0	0	0	1	0	0	0	3993	1464	51	3	5324	3	CSPG4	15	75981730	Missense_Mutation	SNP	T	TCGA-CS-5395-01A-01D-1468-08	25692793	75981730	26549662	45	20261											
SRRM2	23524	broad.mit.edu	37	chr16	2817587	2817587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagctcctgtgaatattgCcggctccagaaccgccgcag	9	7	10	15	3	0	2	0	1	0	1	2	2	2	2	5	1	3	3	5	1	3	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:2817587C>T	ENST00000301740.8	+	11	7607	c.7058C>T	c.(7057-7059)gCc>gTc	p.A2353V	SRRM2_ENST00000574593.1_3'UTR	NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2353	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GTGAATATTGCCGGCTCCAGA	0.627													T	2817587	C	T	2817587	3	4	292	1	0	0	0	0	1	0	0	0	15265	739	26	2	7096	2	SRRM2	16	2817587	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		2817587	87537166	46	20262											
SLC6A2	6530	broad.mit.edu	37	chr16	55705795	55705795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagccacacccaaggagagGtggctgtggggctgggcctg	7	5	19	10	0	0	1	0	0	0	1	0	3	0	2	3	7	1	2	3	7	1	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:55705795G>A	ENST00000567238.1	+	1	213	c.37G>A	c.(37-39)Gtg>Atg	p.V13M	SLC6A2_ENST00000219833.8_Intron|SLC6A2_ENST00000568943.1_Intron|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000379906.2_Intron|SLC6A2_ENST00000566163.1_Intron|SLC6A2_ENST00000561820.1_Intron	NM_001172502.1	NP_001165973.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	0					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CCAAGGAGAGGTGGCTGTGGG	0.602													A	55705795	G	A	55705795	3	1	292	1	0	0	0	0	1	0	0	0	14777	1261	44	2	453	2	SLC6A2	16	55705795	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	52888208	55705795	34648958	47	20263											
TMEM170A	124491	broad.mit.edu	37	chr16	75481522	75481522	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctgtccagtgcccagTgtgagggcttcaaatggtat	9	12	12	8	0	2	1	1	1	1	0	3	1	3	1	2	2	1	2	2	2	3	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr16:75481522T>G	ENST00000357613.4	-	3	388	c.300A>C	c.(298-300)acA>acC	p.T100T	TMEM170A_ENST00000566980.1_Silent_p.T55T|TMEM170A_ENST00000569540.1_Silent_p.T85T|TMEM170A_ENST00000567796.1_Silent_p.T78T|RP11-77K12.1_ENST00000567194.1_Intron|TMEM170A_ENST00000561878.1_Silent_p.T123T|RP11-77K12.1_ENST00000561887.1_Intron			Q8WVE7	T170A_HUMAN	transmembrane protein 170A	123						integral to membrane				endometrium(1)	1						CAGTGCCCAGTGTGAGGGCTT	0.408													G	75481522	T	G	75481522	2	3	292	1	0	0	0	0	0	0	0	1	16186	1683	59	5		5	TMEM170A	16	75481522	Silent	SNP	T	TCGA-CS-5395-01A-01D-1468-08	19775727	75481522	14873231	48	20264											
KRT28	162605	broad.mit.edu	37	chr17	38955859	38955859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccaggtaggatgccaagCggtcattaagattttgcatg	11	12	11	7	1	1	1	1	0	0	1	2	2	2	2	2	3	3	2	2	3	4	5			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:38955859C>T	ENST00000306658.7	-	1	352	c.287G>A	c.(286-288)cGc>cAc	p.R96H		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	96	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGATGCCAAGCGGTCATTAAG	0.478													T	38955859	C	T	38955859	3	4	292	1	0	0	0	0	1	0	0	0	8523	768	27	1	1139	1	KRT28	17	38955859	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		38955859	42239351	49	20265											
CARD14	79092	broad.mit.edu	37	chr17	78171904	78171904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttcctcccagaccttcCgcagctggaaagcagcctgc	7	8	10	16	1	0	1	0	0	0	1	3	2	3	2	5	2	4	4	5	2	1	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr17:78171904C>T	ENST00000573882.1	+	14	2137	c.1601C>T	c.(1600-1602)cCg>cTg	p.P534L	CARD14_ENST00000392434.2_Missense_Mutation_p.P297L|CARD14_ENST00000344227.2_Missense_Mutation_p.P534L|CARD14_ENST00000570421.1_Missense_Mutation_p.P534L|CARD14_ENST00000573754.1_3'UTR			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	534					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CCAGACCTTCCGCAGCTGGAA	0.592													T	78171904	C	T	78171904	3	4	292	1	0	0	0	0	1	0	0	0	2672	652	23	1	1643	1	CARD14	17	78171904	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	39216045	78171904	3023306	50	20266											
LAMA1	284217	broad.mit.edu	37	chr18	6961754	6961754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaagctaacactccggAtgggctggacacagaggaga	13	5	14	9	1	1	2	1	0	0	2	2	6	2	5	1	5	2	2	1	5	2	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr18:6961754A>G	ENST00000389658.3	-	53	7550	c.7457T>C	c.(7456-7458)aTc>aCc	p.I2486T		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2486	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AACACTCCGGATGGGCTGGAC	0.517													G	6961754	A	G	6961754	3	3	292	1	0	0	0	0	1	0	0	0	8664	333	12	3	1814	3	LAMA1	18	6961754	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		6961754	71115494	51	20267											
PCSK4	54760	broad.mit.edu	37	chr19	1488063	1488063	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactccaggcctgcaggAtgctcaggtctggttgggcc	5	9	14	13	0	2	1	1	1	1	0	3	2	3	2	4	5	2	3	4	5	0	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:1488063A>G	ENST00000300954.5	-	4	477	c.416T>C	c.(415-417)aTc>aCc	p.I139T	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	139	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GGCCTGCAGGATGCTCAGGTC	0.672													G	1488063	A	G	1488063	3	3	292	1	0	0	0	0	1	0	0	0	11678	333	12	3	1899	3	PCSK4	19	1488063	Missense_Mutation	SNP	A	TCGA-CS-5395-01A-01D-1468-08		1488063	57640920	52	20268											
LRRC8E	80131	broad.mit.edu	37	chr19	7964897	7964897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaaatgcgaggagctccGcgaggtgccgctttgggtgt	6	9	16	10	5	1	0	1	0	0	0	2	3	2	1	2	3	3	2	2	3	1	1			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:7964897G>A	ENST00000539278.1	-	1	3530	c.370C>T	c.(370-372)Cgg>Tgg	p.R124W	LRRC8E_ENST00000306708.6_Missense_Mutation_p.R497H																							GAGGAGCTCCGCGAGGTGCCG	0.657													A	7964897	G	A	7964897	3	1	292	1	0	0	0	0	1	0	0	0	9095	1087	38	1	1496	1	LRRC8E	19	7964897	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	6476834	7964897	51164086	53	20269											
LRRC8E	80131	broad.mit.edu	37	chr19	7965572	7965572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagagctcttcttctgccGcaagctgcggacgttgcttc	6	11	11	13	4	3	1	0	0	3	1	4	3	3	2	1	1	5	5	1	1	2	4			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:7965572G>A	ENST00000306708.6	+	3	2266	c.2165G>A	c.(2164-2166)cGc>cAc	p.R722H	AC010336.1_ENST00000539278.1_5'UTR	NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	722						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						TTCTTCTGCCGCAAGCTGCGG	0.657													A	7965572	G	A	7965572	3	1	292	1	0	0	0	0	1	0	0	0	9095	1087	38	1	2171	1	LRRC8E	19	7965572	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	675	7965572	51163411	54	20270											
ZNF229	7772	broad.mit.edu	37	chr19	44933647	44933647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaagcctttgccacactCgctgcaggtgtagggcttct	8	10	11	12	1	1	1	0	0	1	1	2	1	1	1	2	2	3	4	2	2	2	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:44933647C>T	ENST00000291187.4	-	6	1613	c.1291G>A	c.(1291-1293)Gag>Aag	p.E431K	ZNF229_ENST00000588931.1_Missense_Mutation_p.E437K|ZNF229_ENST00000591289.1_Intron|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				TTGCCACACTCGCTGCAGGTG	0.537													T	44933647	C	T	44933647	3	4	292	1	0	0	0	0	1	0	0	0	17883	893	31	1	1172	1	ZNF229	19	44933647	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08	36968075	44933647	14195336	55	20271											
HIF3A	64344	broad.mit.edu	37	chr19	46800337	46800337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggcgactggcgagccatgGcgctggggctgcagcgcgca	5	4	19	13	6	0	0	0	0	0	0	0	2	0	0	1	5	3	4	1	5	0	0			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr19:46800337G>A	ENST00000377670.4	+	1	35	c.4G>A	c.(4-6)Gcg>Acg	p.A2T		NM_152795.3	NP_690008.2	Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GCGAGCCATGGCGCTGGGGCT	0.716													A	46800337	G	A	46800337	3	1	292	1	0	0	0	0	1	0	0	0	7160	1203	42	2	6	2	HIF3A	19	46800337	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08	1866690	46800337	12328646	56	20272											
PCSK2	5126	broad.mit.edu	37	chr20	17410117	17410117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagaagtttctgctgccGccaacaacaatatctgtgga	12	9	10	10	1	2	1	0	0	2	1	2	3	2	2	2	2	4	2	2	2	5	2			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:17410117G>A	ENST00000262545.2	+	7	973	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	PCSK2_ENST00000377899.1_Missense_Mutation_p.A201T|PCSK2_ENST00000536609.1_Missense_Mutation_p.A185T	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	220	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCTGCCGCCAACAACAA	0.473													A	17410117	G	A	17410117	3	1	292	1	0	0	0	0	1	0	0	0	11677	1087	38	1	684	1	PCSK2	20	17410117	Missense_Mutation	SNP	G	TCGA-CS-5395-01A-01D-1468-08		17410117	45615403	57	20273											
PLCG1	5335	broad.mit.edu	37	chr20	39802386	39802387	+	In_Frame_Ins	INS	-	-	GAAGAA																															tgcgcttcgtggtgtatgagINSgaagacatgtttagtgacca																										TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chr20:39802386_39802387insGAAGAA	ENST00000373272.2	+	29	3894_3895	c.3489_3490insGAAGAA	c.(3490-3492)gaa>GAAGAAgaa	p.1164_1164E>EEE	PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000244007.3_In_Frame_Ins_p.1164_1164E>EEE|PLCG1_ENST00000373271.1_In_Frame_Ins_p.1164_1164E>EEE	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1164	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTGTATGAGGAAGACATGTT	0.515											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GAAGAA	39802387	-	GAAGAA	39802386	7	5	292	1	0	1	1	0	0	0	0	0	12112	991	35	0	3603	0	PLCG1	20	39802386	In_Frame_Ins	INS	-	TCGA-CS-5395-01A-01D-1468-08	22392269	39802386	23223134	58	20274											
RGN	9104	broad.mit.edu	37	chrX	46943843	46943843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtcagctccgtggctcttCgccagtcgggaggctatgtt	5	11	13	12	3	2	0	1	0	1	0	5	1	3	1	2	3	1	4	2	3	1	3			TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:46943843C>T	ENST00000397180.1	+	4	1159	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	RGN_ENST00000457380.1_Missense_Mutation_p.R64C|RGN_ENST00000469346.1_3'UTR|RGN_ENST00000336169.3_Missense_Mutation_p.R64C|RGN_ENST00000352078.4_Missense_Mutation_p.R64C	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	64					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGGCTCTTCGCCAGTCGGG	0.493													T	46943843	C	T	46943843	3	4	292	1	0	0	0	0	1	0	0	0	13370	884	31	1	196	1	RGN	23	46943843	Missense_Mutation	SNP	C	TCGA-CS-5395-01A-01D-1468-08		46943843	108326717	59	20275											
SLC25A5	292	broad.mit.edu	37	chrX	118603962	118603962	+	Frame_Shift_Del	DEL	T	T	-																															gatgtgggtaaagctggagcTgaaagggaattccgaggcct																										TCGA-CS-5395-01A-01D-1468-08	TCGA-CS-5395-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3d477ac1-3bdf-4410-9594-1a3a1412c6ae	baa7b05c-d0b5-4b1c-b4fa-8955abe5c3db	g.chrX:118603962delT	ENST00000317881.8	+	2	566	c.450delT	c.(448-450)gctfs	p.A150fs	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	150					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	AAGCTGGAGCTGAAAGGGAAT	0.537													-	118603962	T	-	118603962	7	5	292	1	0	1	0	1	0	0	0	0	14606	1567	55	0	456	0	SLC25A5	23	118603962	Frame_Shift_Del	DEL	T	TCGA-CS-5395-01A-01D-1468-08	71660119	118603962	36666598	60	20276											
MTOR	2475	broad.mit.edu	37	chr1	11184570	11184570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacctgaggtttttccgaAgagatgttgggtcattggcc	9	13	12	7	1	1	2	1	1	0	1	2	4	2	2	3	3	1	2	3	3	3	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:11184570A>G	ENST00000361445.4	-	47	6723	c.6647T>C	c.(6646-6648)cTt>cCt	p.L2216P	MTOR_ENST00000376838.1_Missense_Mutation_p.L421P	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2216	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						GTTTTTCCGAAGAGATGTTGG	0.443													G	11184570	A	G	11184570	3	3	293	1	0	0	0	0	1	0	0	0	10030	72	3	3	1050	3	MTOR	1	11184570	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08		11184570	238066051	1	20277											
MAGI3	260425	broad.mit.edu	37	chr1	114225640	114225640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgtgccagtaattgaagaAtctttgagagttcagatatg	13	12	10	6	1	2	4	1	2	1	3	2	5	2	4	1	0	1	2	1	0	4	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:114225640A>G	ENST00000307546.9	+	21	3525	c.3450A>G	c.(3448-3450)gaA>gaG	p.E1150E	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1175					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAATTGAAGAATCTTTGAGAG	0.368													G	114225640	A	G	114225640	2	3	293	1	0	0	0	0	0	0	0	1	9267	98	4	3		3	MAGI3	1	114225640	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08	103041070	114225640	135024981	2	20278											
ATP8B2	57198	broad.mit.edu	37	chr1	154306628	154306628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaactggacaaattcaGcggaaccctctactggaagg	15	6	9	11	1	2	0	1	0	1	0	2	3	2	3	1	4	5	0	1	4	6	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:154306628G>A	ENST00000368489.3	+	10	734	c.734G>A	c.(733-735)aGc>aAc	p.S245N	ATP8B2_ENST00000341822.2_Missense_Mutation_p.S231N|ATP8B2_ENST00000368487.3_Missense_Mutation_p.S212N|ATP8B2_ENST00000426445.1_3'UTR	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	231					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GACAAATTCAGCGGAACCCTC	0.512													A	154306628	G	A	154306628	3	1	293	1	0	0	0	0	1	0	0	0	1200	971	34	2	772	2	ATP8B2	1	154306628	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	40080988	154306628	94943993	3	20279											
VHLL	391104	broad.mit.edu	37	chr1	156268966	156268966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaacccaccccgttcccCgctctccagggcattacctc	7	9	5	20	2	2	0	0	0	2	0	5	0	3	0	7	1	2	3	7	1	3	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr1:156268966C>T	ENST00000339922.3	-	1	462	c.15G>A	c.(13-15)gcG>gcA	p.A5A		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	5					protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CCCCGTTCCCCGCTCTCCAGG	0.597													T	156268966	C	T	156268966	2	4	293	1	0	0	0	0	0	0	0	1	17265	639	23	1		1	VHLL	1	156268966	Silent	SNP	C	TCGA-CS-5396-01A-02D-1468-08	1962338	156268966	92981655	4	20280											
NEB	4703	broad.mit.edu	37	chr2	152409920	152409920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcaaactcacatcatcacGtagatcataagcatgcttgg	14	9	8	10	1	4	1	4	0	0	1	4	1	4	1	0	2	3	4	0	2	3	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:152409920G>A	ENST00000427231.2	-	127	19925	c.19723C>T	c.(19723-19725)Cgt>Tgt	p.R6575C	NEB_ENST00000603639.1_Missense_Mutation_p.R6575C|NEB_ENST00000172853.10_Missense_Mutation_p.R4874C|NEB_ENST00000604864.1_Missense_Mutation_p.R6575C|NEB_ENST00000409198.1_Missense_Mutation_p.R4874C|NEB_ENST00000397345.3_Missense_Mutation_p.R6575C	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	4874	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ACATCATCACGTAGATCATAA	0.408													A	152409920	G	A	152409920	3	1	293	1	0	0	0	0	1	0	0	0	10378	1145	40	1	6187	1	NEB	2	152409920	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		152409920	90789453	5	20281											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	293	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	56703192	209113112	34086261	6	20282											
SLC6A6	6533	broad.mit.edu	37	chr3	14520692	14520692	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcactccagttctctgtgTtgtgagttccatttctgtgg	5	17	10	9	0	3	1	1	1	2	0	6	2	5	1	2	1	0	3	2	1	0	4			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:14520692T>C	ENST00000454876.2	+	13	1879	c.1550T>C	c.(1549-1551)gTt>gCt	p.V517A	SLC6A6_ENST00000360861.3_Splice_Site_p.V517A			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	517					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						GTTCTCTGTGTTGTGAGTTCC	0.517													C	14520692	T	C	14520692	5	2	293	1	0	0	0	0	0	0	1	0	14782	1739	60	3	1596	3	SLC6A6	3	14520692	Splice_Site	SNP	T	TCGA-CS-5396-01A-02D-1468-08		14520692	183501738	7	20283											
GADL1	339896	broad.mit.edu	37	chr3	30885753	30885753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttcctcaggtatcattttAcctctaagggacaaagattt	12	14	7	8	0	3	1	2	0	1	1	4	2	4	2	2	2	1	2	2	2	4	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr3:30885753A>G	ENST00000454381.3	-	8	781	c.735T>C	c.(733-735)ggT>ggC	p.G245G	GADL1_ENST00000282538.5_Silent_p.G245G			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	245					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	GTATCATTTTACCTCTAAGGG	0.433													G	30885753	A	G	30885753	2	3	293	1	0	0	0	0	0	0	0	1	6237	378	14	3		3	GADL1	3	30885753	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08	16365061	30885753	167136677	8	20284											
SPATA18	132671	broad.mit.edu	37	chr4	52945942	52945942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaatgtcaatcccaaGatttcattccctcctgtcgt	9	13	6	13	1	2	2	2	1	0	1	6	2	5	2	4	0	0	0	4	0	3	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:52945942G>T	ENST00000295213.4	+	9	1586	c.1212G>T	c.(1210-1212)aaG>aaT	p.K404N	SPATA18_ENST00000419395.2_Missense_Mutation_p.K372N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	404					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	p.K404N(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCAATCCCAAGATTTCATTCC	0.443													T	52945942	G	T	52945942	3	4	293	1	0	0	0	0	1	0	0	0	15099	933	33	4	1246	4	SPATA18	4	52945942	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		52945942	138208334	9	20285											
HERC3	8916	broad.mit.edu	37	chr4	89583639	89583639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcacattataccagtttaAtaaatgatgaaaccatagca	19	10	5	7	0	0	2	0	2	0	0	0	2	0	2	2	0	4	3	2	0	8	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:89583639A>G	ENST00000402738.1	+	11	1443	c.1204A>G	c.(1204-1206)Ata>Gta	p.I402V	HERC3_ENST00000264345.3_Missense_Mutation_p.I402V|HERC3_ENST00000543130.1_Intron	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	402					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TACCAGTTTAATAAATGATGA	0.333													G	89583639	A	G	89583639	3	3	293	1	0	0	0	0	1	0	0	0	7114	101	4	3	1238	3	HERC3	4	89583639	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08	36637697	89583639	101570637	10	20286											
ADH1A	124	broad.mit.edu	37	chr4	100205754	100205754	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctggtgccatcctgcagGgtcccctgaggattgcttac	5	11	12	13	0	0	1	0	1	0	0	2	2	2	2	4	3	5	3	4	3	1	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr4:100205754G>A	ENST00000209668.2	-	5	482	c.369C>T	c.(367-369)acC>acT	p.T123T	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	123					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CATCCTGCAGGGTCCCCTGAG	0.517													A	100205754	G	A	100205754	2	1	293	1	0	0	0	0	0	0	0	1	307	1219	43	2		2	ADH1A	4	100205754	Silent	SNP	G	TCGA-CS-5396-01A-02D-1468-08	10622115	100205754	90948522	11	20287											
SLC26A8	116369	broad.mit.edu	37	chr6	35922951	35922951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttaatacgactaaccccCgtgaatccacgtagtgtacc	11	10	7	13	3	1	1	0	1	1	0	2	2	2	1	4	0	3	2	4	0	6	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:35922951C>T	ENST00000490799.1	-	17	2563	c.2210G>A	c.(2209-2211)cGg>cAg	p.R737Q	SLC26A8_ENST00000355574.2_Missense_Mutation_p.R737Q|SLC26A8_ENST00000394602.2_Missense_Mutation_p.R632Q	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	737	Interaction with RACGAP1.|STAS.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity	p.R737L(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GACTAACCCCCGTGAATCCAC	0.527													T	35922951	C	T	35922951	3	4	293	1	0	0	0	0	1	0	0	0	14617	652	23	1	718	1	SLC26A8	6	35922951	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		35922951	135192116	12	20288											
EPHA7	2045	broad.mit.edu	37	chr6	93964475	93964475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaatttccggtactggaTggcttcgggtgctgtccacc	5	13	13	10	2	0	1	0	1	0	0	3	2	2	2	3	4	2	3	3	4	2	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:93964475T>C	ENST00000369303.4	-	14	2606	c.2422A>G	c.(2422-2424)Atc>Gtc	p.I808V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	808	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CGGTACTGGATGGCTTCGGGT	0.373													C	93964475	T	C	93964475	3	2	293	1	0	0	0	0	1	0	0	0	5213	1464	51	3	590	3	EPHA7	6	93964475	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08	58041524	93964475	77150592	13	20289											
MAP3K5	4217	broad.mit.edu	37	chr6	136935398	136935398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggtgtttatgcaatgctAtttcttcatgcaggggctga	8	15	11	7	0	3	1	2	1	1	0	3	1	3	1	0	3	3	5	0	3	3	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr6:136935398A>G	ENST00000359015.4	-	16	2537	c.2177T>C	c.(2176-2178)aTa>aCa	p.I726T	MAP3K5_ENST00000355845.4_5'UTR	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	726	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		ATGCAATGCTATTTCTTCATG	0.363													G	136935398	A	G	136935398	3	3	293	1	0	0	0	0	1	0	0	0	9328	449	16	3	2007	3	MAP3K5	6	136935398	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08	42970923	136935398	34179669	14	20290											
CYCS	54205	broad.mit.edu	37	chr7	25163609	25163609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtaagagtatccaggggCctgacctgtcttccgcccaa	8	10	11	12	1	1	2	0	1	1	1	3	2	3	2	5	2	0	2	5	2	3	3	rs11548807		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr7:25163609C>A	ENST00000305786.2	-	2	299	c.130G>T	c.(130-132)Gcc>Tcc	p.A44S	CYCS_ENST00000409764.1_Missense_Mutation_p.A44S|CYCS_ENST00000409409.1_Missense_Mutation_p.A44S	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	44					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TATCCAGGGGCCTGACCTGTC	0.443													A	25163609	C	A	25163609	3	1	293	1	0	0	0	0	1	0	0	0	4169	739	26	4	195	4	CYCS	7	25163609	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		25163609	133975054	15	20291											
GPR124	25960	broad.mit.edu	37	chr8	37698790	37698790	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctgaggggttccaccagGctcaggggcagcggccccct	6	5	16	14	1	1	1	1	1	0	0	2	2	2	1	4	6	2	4	4	6	0	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr8:37698790G>T	ENST00000315215.7	+	16	2646	c.2283G>T	c.(2281-2283)agG>agT	p.R761S	GPR124_ENST00000412232.2_Missense_Mutation_p.R978S			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	978					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			GTTCCACCAGGCTCAGGGGCA	0.706													T	37698790	G	T	37698790	3	4	293	1	0	0	0	0	1	0	0	0	6692	1194	42	4	2987	4	GPR124	8	37698790	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		37698790	108665232	16	20292											
MTA2	9219	broad.mit.edu	37	chr11	62363998	62363998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctggcaagtgacttccAgggtagctaaggggggcaga	10	8	16	7	0	0	2	0	1	0	1	1	2	1	2	1	5	2	5	1	5	4	4			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr11:62363998A>G	ENST00000278823.2	-	10	1278	c.889T>C	c.(889-891)Tgg>Cgg	p.W297R	MTA2_ENST00000524902.1_Missense_Mutation_p.W124R|MTA2_ENST00000527204.1_Missense_Mutation_p.W124R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	297	SANT.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGTGACTTCCAGGGTAGCTAA	0.542													G	62363998	A	G	62363998	3	3	293	1	0	0	0	0	1	0	0	0	9985	188	7	3	1153	3	MTA2	11	62363998	Missense_Mutation	SNP	A	TCGA-CS-5396-01A-02D-1468-08		62363998	72642518	17	20293											
KRAS	3845	broad.mit.edu	37	chr12	25398306	25398306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctccaactaccacaagttTatattcagtcattttcagca	13	13	4	11	0	3	0	3	0	0	0	4	0	4	0	2	0	4	3	2	0	5	7	rs121918682		TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:25398306T>C	ENST00000311936.3	-	2	204	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	KRAS_ENST00000256078.4_Missense_Mutation_p.K5E|KRAS_ENST00000556131.1_Missense_Mutation_p.K5E|KRAS_ENST00000557334.1_Missense_Mutation_p.K5E	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	5			K -> E (in NS3).|K -> N (in GASC; found also in a patient with Costello syndrome; exhibits only minor alterations in its in vitro biochemical behavior compared to wild- type protein).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.K5E(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			ACCACAAGTTTATATTCAGTC	0.358		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			C	25398306	T	C	25398306	3	2	293	1	0	0	0	0	1	0	0	0	8496	1763	61	3	693	3	KRAS	12	25398306	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08		25398306	108453589	18	20294											
PDE1B	5153	broad.mit.edu	37	chr12	54968886	54968886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catctgccccaaccaggattGacaagcccaaggccctgtct	10	7	8	16	0	2	1	0	1	2	0	2	2	2	2	5	2	3	0	5	2	3	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:54968886G>A	ENST00000243052.3	+	11	1505	c.1069G>A	c.(1069-1071)Gac>Aac	p.D357N	PDE1B_ENST00000550620.1_Missense_Mutation_p.D337N|PDE1B_ENST00000538346.1_Missense_Mutation_p.D316N|PDE1B_ENST00000394277.3_3'UTR	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	357	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						AACCAGGATTGACAAGCCCAA	0.537													A	54968886	G	A	54968886	3	1	293	1	0	0	0	0	1	0	0	0	11710	1290	45	2	1164	2	PDE1B	12	54968886	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	29570580	54968886	78883009	19	20295											
EEA1	8411	broad.mit.edu	37	chr12	93244954	93244954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcagattctcgctcaCgttccaaggtcatgttatcc	7	16	7	11	2	4	1	3	0	1	1	7	1	6	1	2	1	0	4	2	1	2	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr12:93244954C>T	ENST00000322349.8	-	9	995	c.731G>A	c.(730-732)cGt>cAt	p.R244H		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	244					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						TTCTCGCTCACGTTCCAAGGT	0.383													T	93244954	C	T	93244954	3	4	293	1	0	0	0	0	1	0	0	0	4960	536	19	1	3588	1	EEA1	12	93244954	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	38276068	93244954	40606941	20	20296											
FRY	10129	broad.mit.edu	37	chr13	32747575	32747575	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagtgtactccacgctgtAgaaggttttgctctggtttt	6	16	11	8	1	1	1	0	0	1	1	2	1	2	1	1	2	3	7	1	2	3	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:32747575A>C	ENST00000380250.3	+	19	2719	c.2223A>C	c.(2221-2223)gtA>gtC	p.V741V		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCACGCTGTAGAAGGTTTTG	0.468													C	32747575	A	C	32747575	2	2	293	1	0	0	0	0	0	0	0	1	6115	407	15	5		5	FRY	13	32747575	Silent	SNP	A	TCGA-CS-5396-01A-02D-1468-08		32747575	82422303	21	20297											
EFNB2	1948	broad.mit.edu	37	chr13	107147326	107147326	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctttattcctggttgaTccagcagaacttgcatctat	9	15	8	9	0	2	2	0	1	2	1	4	3	4	3	2	2	3	3	2	2	3	6			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr13:107147326T>A	ENST00000245323.4	-	4	665	c.516A>T	c.(514-516)ggA>ggT	p.G172G		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	172					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					TCCTGGTTGATCCAGCAGAAC	0.383													A	107147326	T	A	107147326	2	1	293	1	0	0	0	0	0	0	0	1	4995	1422	50	5		5	EFNB2	13	107147326	Silent	SNP	T	TCGA-CS-5396-01A-02D-1468-08	74399751	107147326	8022552	22	20298											
MC1R	4157	broad.mit.edu	37	chr16	89986243	89986243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtcctgctgtgcctcGtggtcttcttcctggctatg	1	15	12	13	2	2	0	0	0	2	0	5	0	4	0	4	3	2	2	4	3	1	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr16:89986243G>A	ENST00000555427.1	+	3	2880	c.577G>A	c.(577-579)Gtg>Atg	p.V193M	TUBB3_ENST00000556922.1_Missense_Mutation_p.V193M|RP11-566K11.4_ENST00000554623.1_RNA|MC1R_ENST00000555147.1_Missense_Mutation_p.V193M					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCTGTGCCTCGTGGTCTTCTT	0.672									Melanoma, Familial Clustering of				A	89986243	G	A	89986243	3	1	293	1	0	0	0	0	1	0	0	0	9438	1145	40	1	579	1	MC1R	16	89986243	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		89986243	368510	23	20299											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	293	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		7577120	73618090	24	20300											
CSH1	1442	broad.mit.edu	37	chr17	61972456	61972456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgaccttgtccatgtcctTcctgaagcagtagagcagcc	8	10	9	14	1	0	2	0	1	0	1	4	3	3	2	5	0	3	3	5	0	2	3			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr17:61972456T>C	ENST00000316193.8	-	5	721	c.580A>G	c.(580-582)Aag>Gag	p.K194E	CSH1_ENST00000453363.3_Missense_Mutation_p.K99E|CSH1_ENST00000329882.8_3'UTR	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	194					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TCCATGTCCTTCCTGAAGCAG	0.567									Russell-Silver syndrome				C	61972456	T	C	61972456	3	2	293	1	0	0	0	0	1	0	0	0	3973	1792	62	3	77	3	CSH1	17	61972456	Missense_Mutation	SNP	T	TCGA-CS-5396-01A-02D-1468-08	54395336	61972456	19222754	25	20301											
THOP1	7064	broad.mit.edu	37	chr19	2810741	2810741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcgcggctctgccaggaGatcctcggggtcccggccac	5	7	14	15	4	1	1	0	0	1	1	4	2	3	1	4	5	2	1	4	5	1	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr19:2810741G>T	ENST00000307741.6	+	11	1949	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D	THOP1_ENST00000586677.1_Missense_Mutation_p.E461D|THOP1_ENST00000395212.4_Missense_Mutation_p.E93D	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	582					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		TCTGCCAGGAGATCCTCGGGG	0.662													T	2810741	G	T	2810741	3	4	293	1	0	0	0	0	1	0	0	0	15971	933	33	4	1788	4	THOP1	19	2810741	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08		2810741	56318242	26	20302											
TIAM1	7074	broad.mit.edu	37	chr21	32617956	32617956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cccagacctgccgtcgctctCgtagaaaaatagcgtgcatc	10	8	9	14	4	1	2	0	0	1	2	4	2	1	2	3	0	3	3	3	0	4	2			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chr21:32617956C>G	ENST00000286827.3	-	7	1903	c.1432G>C	c.(1432-1434)Gag>Cag	p.E478Q	TIAM1_ENST00000469412.1_5'UTR|TIAM1_ENST00000541036.1_Missense_Mutation_p.E478Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	478	PH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCGTCGCTCTCGTAGAAAAAT	0.527													G	32617956	C	G	32617956	3	3	293	1	0	0	0	0	1	0	0	0	15990	893	31	4	3435	4	TIAM1	21	32617956	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08		32617956	15511939	27	20303											
PHEX	5251	broad.mit.edu	37	chrX	22095667	22095667	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccgctggcccgtgctTgaatctaatattggccctga	6	13	9	13	2	1	2	0	2	1	0	2	2	2	2	4	2	1	2	4	2	3	5			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:22095667T>A	ENST00000379374.4	+	5	1075	c.510T>A	c.(508-510)ctT>ctA	p.L170L	PHEX_ENST00000535894.1_Silent_p.L73L|PHEX_ENST00000537599.1_Silent_p.L170L	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	170					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCCCGTGCTTGAATCTAATA	0.473													A	22095667	T	A	22095667	2	1	293	1	0	0	0	0	0	0	0	1	11896	1799	63	5		5	PHEX	23	22095667	Silent	SNP	T	TCGA-CS-5396-01A-02D-1468-08		22095667	133174893	28	20304											
COL4A6	1288	broad.mit.edu	37	chrX	107406179	107406179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgaggccagggatgccatCgatccctggtagacccaagg	10	6	14	11	1	0	2	0	1	0	1	2	4	1	3	4	4	1	1	4	4	2	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:107406179C>T	ENST00000334504.7	-	41	4392	c.4159G>A	c.(4159-4161)Gat>Aat	p.D1387N	COL4A6_ENST00000545689.1_Missense_Mutation_p.D1363N|COL4A6_ENST00000538570.1_Missense_Mutation_p.D1330N|COL4A6_ENST00000372216.4_Missense_Mutation_p.D1388N|COL4A6_ENST00000394872.2_Missense_Mutation_p.D1388N	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1388	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGGATGCCATCGATCCCTGGT	0.592									Alport syndrome with Diffuse Leiomyomatosis				T	107406179	C	T	107406179	3	4	293	1	0	0	0	0	1	0	0	0	3726	884	31	1	933	1	COL4A6	23	107406179	Missense_Mutation	SNP	C	TCGA-CS-5396-01A-02D-1468-08	85310512	107406179	47864381	29	20305											
PLXNA3	55558	broad.mit.edu	37	chrX	153695648	153695648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggcggccccagcctcGggcgcaaggcgagcaccctg	5	5	15	16	4	1	0	0	0	1	0	2	1	1	0	4	4	2	2	4	4	1	1			TCGA-CS-5396-01A-02D-1468-08	TCGA-CS-5396-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	653af577-5555-4b77-bfec-3bd341cf58b5	bd28a937-72d5-4ee5-a2c4-c90271d33b1a	g.chrX:153695648G>T	ENST00000369682.3	+	19	3450	c.3275G>T	c.(3274-3276)cGg>cTg	p.R1092L		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1092	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCCAGCCTCGGGCGCAAGGC	0.617													T	153695648	G	T	153695648	3	4	293	1	0	0	0	0	1	0	0	0	12198	1116	39	4	3345	4	PLXNA3	23	153695648	Missense_Mutation	SNP	G	TCGA-CS-5396-01A-02D-1468-08	46289469	153695648	1574912	30	20306											
PLCH2	9651	broad.mit.edu	37	chr1	2411404	2411404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctggctcgccgccagcGcaccagggaccaatatcctt	8	6	10	17	3	0	0	0	0	0	0	2	1	1	1	6	2	2	2	6	2	2	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:2411404G>A	ENST00000449969.1	+	3	583	c.422G>A	c.(421-423)cGc>cAc	p.R141H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R168H|PLCH2_ENST00000378486.3_Missense_Mutation_p.R168H|PLCH2_ENST00000419816.2_Missense_Mutation_p.R168H|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	168	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CGCCGCCAGCGCACCAGGGAC	0.687													A	2411404	G	A	2411404	3	1	294	1	0	0	0	0	1	0	0	0	12115	1087	38	1	513	1	PLCH2	1	2411404	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		2411404	246839217	1	20307											
AADACL4	343066	broad.mit.edu	37	chr1	12711261	12711261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgacctgcgttttgggacGatacccgtgaggctgttcca	7	10	12	12	4	0	1	0	1	0	0	1	4	1	2	4	2	2	3	4	2	1	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:12711261G>A	ENST00000376221.1	+	2	288	c.288G>A	c.(286-288)acG>acA	p.T96T		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	96						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GTTTTGGGACGATACCCGTGA	0.517													A	12711261	G	A	12711261	2	1	294	1	0	0	0	0	0	0	0	1	13	1045	37	1		1	AADACL4	1	12711261	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	10299857	12711261	236539360	2	20308											
ZNF362	149076	broad.mit.edu	37	chr1	33745746	33745746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggggctgtccacccggaCcccgtctgtgagcacttctg	4	10	12	15	2	3	1	0	1	3	0	4	2	4	2	4	3	1	2	4	3	0	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:33745746C>T	ENST00000539719.1	+	5	541	c.371C>T	c.(370-372)aCc>aTc	p.T124I	ZNF362_ENST00000373428.5_Missense_Mutation_p.T124I	NM_152493.2	NP_689706.2	Q5T0B9	ZN362_HUMAN	zinc finger protein 362	124					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCCACCCGGACCCCGTCTGTG	0.682													T	33745746	C	T	33745746	3	4	294	1	0	0	0	0	1	0	0	0	17969	507	18	2	385	2	ZNF362	1	33745746	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	21034485	33745746	215504875	3	20309											
DAB1	1600	broad.mit.edu	37	chr1	57756661	57756661	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctggagtctttcttggcGctggttttcacagctacttg	4	18	10	9	1	4	0	1	0	3	0	4	1	4	1	0	3	2	3	0	3	1	7			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:57756661G>A	ENST00000371236.2	-	2	305	c.42C>T	c.(40-42)agC>agT	p.S14S	DAB1_ENST00000414851.2_Silent_p.S14S|DAB1_ENST00000420954.2_Silent_p.S14S|DAB1_ENST00000371234.4_Silent_p.S14S|DAB1_ENST00000371230.1_Silent_p.S14S|DAB1_ENST00000371231.1_Silent_p.S14S|DAB1_ENST00000439789.2_Silent_p.S14S|DAB1_ENST00000485760.1_5'UTR			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	14					cell differentiation|nervous system development					central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						CTTTCTTGGCGCTGGTTTTCA	0.443													A	57756661	G	A	57756661	2	1	294	1	0	0	0	0	0	0	0	1	4251	1078	38	1		1	DAB1	1	57756661	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	24010915	57756661	191493960	4	20310											
CDC14A	8556	broad.mit.edu	37	chr1	100818540	100818540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtcaggggaactaatcggGgcttgtgagttcatgaaagg	11	9	16	5	1	2	2	2	2	0	0	3	4	2	3	0	5	1	2	0	5	3	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr1:100818540G>T	ENST00000370125.2	+	1	518	c.30G>T	c.(28-30)ggG>ggT	p.G10G	CDC14A_ENST00000361544.6_Silent_p.G10G|CDC14A_ENST00000336454.3_Silent_p.G10G|CDC14A_ENST00000544534.1_Silent_p.G10G|CDC14A_ENST00000542213.1_Intron|CDC14A_ENST00000370124.3_Silent_p.G10G			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	10	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		AACTAATCGGGGCTTGTGAGT	0.627													T	100818540	G	T	100818540	2	4	294	1	0	0	0	0	0	0	0	1	3086	1219	43	4		4	CDC14A	1	100818540	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	43061879	100818540	148432081	5	20311											
PLEK	5341	broad.mit.edu	37	chr2	68620306	68620306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatacaggggcatagaaggAaaaactggaaagtgaggaag	18	4	16	3	0	0	2	0	1	0	1	0	6	0	6	0	6	2	1	0	6	7	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:68620306A>G	ENST00000234313.7	+	7	954	c.775A>G	c.(775-777)Aaa>Gaa	p.K259E		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	259	PH 2.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		GCATAGAAGGAAAAACTGGAA	0.433													G	68620306	A	G	68620306	3	3	294	1	0	0	0	0	1	0	0	0	12130	247	9	3	801	3	PLEK	2	68620306	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08		68620306	174579067	6	20312											
ANTXR1	84168	broad.mit.edu	37	chr2	69409664	69409664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccacagaagaaggtgctAagttggaaaaggcaaagaat	17	6	12	6	0	0	3	0	0	0	3	1	4	1	4	1	3	1	4	1	3	7	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:69409664A>G	ENST00000303714.4	+	16	1547	c.1225A>G	c.(1225-1227)Aag>Gag	p.K409E		NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	409					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						AGAAGGTGCTAAGTTGGAAAA	0.433									Familial Infantile Hemangioma				G	69409664	A	G	69409664	3	3	294	1	0	0	0	0	1	0	0	0	711	363	13	3	1364	3	ANTXR1	2	69409664	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08	789358	69409664	173789709	7	20313											
SF3B1	23451	broad.mit.edu	37	chr2	198273241	198273241	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagtcggtgtttcaccAatagaatctccacctcgatc	10	10	8	13	2	2	1	1	0	1	1	6	3	2	2	4	2	0	1	4	2	3	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr2:198273241A>G	ENST00000335508.6	-	8	1060	c.969T>C	c.(967-969)atT>atC	p.I323I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			GTGTTTCACCAATAGAATCTC	0.468			Mis		myelodysplastic syndrome								G	198273241	A	G	198273241	2	3	294	1	0	0	0	0	0	0	0	1	14242	126	5	3		3	SF3B1	2	198273241	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	128863577	198273241	44926132	8	20314											
VGLL3	389136	broad.mit.edu	37	chr3	87027678	87027678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttttgaattcttacctCgccataggggggttagcccc	6	13	10	12	1	1	1	0	1	1	0	2	1	1	1	4	3	3	2	4	3	4	6			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr3:87027678C>T	ENST00000398399.2	-	2	764	c.401G>A	c.(400-402)cGa>cAa	p.R134Q	VGLL3_ENST00000383698.3_Missense_Mutation_p.R134Q	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		ATTCTTACCTCGCCATAGGGG	0.502													T	87027678	C	T	87027678	3	4	294	1	0	0	0	0	1	0	0	0	17262	884	31	1	591	1	VGLL3	3	87027678	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		87027678	110994752	9	20315											
PDE6B	5158	broad.mit.edu	37	chr4	619541	619541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaggacgggtgcccgccGgactgcgacagcctccggga	6	4	17	14	6	0	0	0	0	0	0	1	5	1	3	4	4	4	0	4	4	0	0			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:619541G>A	ENST00000255622.6	+	1	169	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PDE6B_ENST00000496514.1_Silent_p.P42P	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	42					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GGTGCCCGCCGGACTGCGACA	0.642													A	619541	G	A	619541	2	1	294	1	0	0	0	0	0	0	0	1	11722	1103	39	1		1	PDE6B	4	619541	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08		619541	190534735	10	20316											
WDFY3	23001	broad.mit.edu	37	chr4	85612794	85612794	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaaaccttgtctgacTcataggttcccagtctgcaa	11	12	7	11	0	3	1	1	1	2	0	4	1	4	1	2	1	3	3	2	1	4	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:85612794T>A	ENST00000322366.6	-	59	9550	c.9143A>T	c.(9142-9144)gAg>gTg	p.E3048V	WDFY3_ENST00000295888.4_Missense_Mutation_p.E3065V			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3065						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CTTGTCTGACTCATAGGTTCC	0.438													A	85612794	T	A	85612794	3	1	294	1	0	0	0	0	1	0	0	0	17372	1551	54	5	1422	5	WDFY3	4	85612794	Missense_Mutation	SNP	T	TCGA-CS-5397-01A-01D-1893-08	84993253	85612794	105541482	11	20317											
FSTL5	56884	broad.mit.edu	37	chr4	162463805	162463805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagttaccccaggctcTctagcctgactctctggata	7	11	9	14	0	2	1	0	1	2	0	4	2	2	2	3	3	2	3	3	3	3	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr4:162463805T>C	ENST00000306100.5	-	9	1492	c.1056A>G	c.(1054-1056)agA>agG	p.R352R	FSTL5_ENST00000536695.1_Silent_p.R351R|FSTL5_ENST00000427802.2_Silent_p.R351R|FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000379164.4_Silent_p.R351R	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	352	Ig-like 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		CCCCAGGCTCTCTAGCCTGAC	0.423													C	162463805	T	C	162463805	2	2	294	1	0	0	0	0	0	0	0	1	6132	1548	54	3		3	FSTL5	4	162463805	Silent	SNP	T	TCGA-CS-5397-01A-01D-1893-08	76851011	162463805	28690471	12	20318											
DNAH5	1767	broad.mit.edu	37	chr5	13923478	13923478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagccacatcgtttccctCggtcacgaacaccttaggtt	10	10	8	13	3	1	1	1	0	0	1	4	2	2	1	3	2	2	2	3	2	3	3	rs116128702	by1000genomes	TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:13923478C>T	ENST00000265104.4	-	4	453	c.349G>A	c.(349-351)Gag>Aag	p.E117K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	117	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCGTTTCCCTCGGTCACGAAC	0.448									Kartagener syndrome				T	13923478	C	T	13923478	3	4	294	1	0	0	0	0	1	0	0	0	4643	893	31	1	13829	1	DNAH5	5	13923478	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		13923478	166991782	13	20319											
PCDHB1	29930	broad.mit.edu	37	chr5	140431875	140431875	+	Frame_Shift_Del	DEL	A	A	-																															tggacctagacgagggcaccAacaaagcgataacttactct																										TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:140431875delA	ENST00000306549.3	+	1	897	c.820delA	c.(820-822)aacfs	p.N274fs		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		274	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGGGCACCAACAAAGCGAT	0.512													-	140431875	A	-	140431875	7	5	294	1	0	1	0	1	0	0	0	0	11610	130	5	0	822	0	PCDHB1	5	140431875	Frame_Shift_Del	DEL	A	TCGA-CS-5397-01A-01D-1893-08	126508397	140431875	40483385	14	20320											
GABRG2	2566	broad.mit.edu	37	chr5	161580182	161580182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagagagagatgaagagtaCggctatgagtgtctggacgg	13	7	16	5	2	1	5	0	2	1	3	1	8	1	6	0	3	1	2	0	3	4	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr5:161580182C>T	ENST00000356592.3	+	10	1696	c.1236C>T	c.(1234-1236)taC>taT	p.Y412Y	GABRG2_ENST00000414552.2_Silent_p.Y452Y|GABRG2_ENST00000393933.4_Silent_p.Y309Y|GABRG2_ENST00000361925.4_Silent_p.Y404Y	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	404					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ATGAAGAGTACGGCTATGAGT	0.488													T	161580182	C	T	161580182	2	4	294	1	0	0	0	0	0	0	0	1	6224	547	19	1		1	GABRG2	5	161580182	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	21148307	161580182	19335078	15	20321											
ULBP1	80329	broad.mit.edu	37	chr6	150289853	150289853	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttttcttcactatgacTgtgttaaccacaaggccaaa	11	12	7	11	0	2	1	1	1	1	0	2	1	2	1	3	2	1	1	3	2	4	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr6:150289853T>A	ENST00000229708.3	+	2	239	c.196T>A	c.(196-198)Tgt>Agt	p.C66S		NM_025218.2	NP_079494.1	Q9BZM6	N2DL1_HUMAN	UL16 binding protein 1		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|endoplasmic reticulum|MHC class I protein complex	MHC class I receptor activity			large_intestine(3)|lung(5)|pancreas(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.14e-11)		TCACTATGACTGTGTTAACCA	0.453													A	150289853	T	A	150289853	3	1	294	1	0	0	0	0	1	0	0	0	17074	1580	55	5	202	5	ULBP1	6	150289853	Missense_Mutation	SNP	T	TCGA-CS-5397-01A-01D-1893-08		150289853	20825214	16	20322											
C7orf34	135927	broad.mit.edu	37	chr7	142637545	142637545	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccagtcgtccaagacGgcagctgttcacaagcactc	12	6	10	13	2	1	2	1	0	0	2	4	3	2	2	2	1	2	4	2	1	3	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr7:142637545G>A	ENST00000409607.3	+	2	356	c.315G>A	c.(313-315)acG>acA	p.T105T		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	80						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CGTCCAAGACGGCAGCTGTTC	0.532													A	142637545	G	A	142637545	2	1	294	1	0	0	0	0	0	0	0	1	2413	1103	39	1		1	C7orf34	7	142637545	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08		142637545	16501118	17	20323											
PSD3	23362	broad.mit.edu	37	chr8	18725328	18725328	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcctgatgtcctccccctGatgtcctctccaagaactga	8	12	6	15	0	1	4	0	3	1	1	6	4	5	4	6	0	1	0	6	0	3	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr8:18725328G>C	ENST00000440756.2	-	4	1592	c.1490C>G	c.(1489-1491)tCa>tGa	p.S497*	PSD3_ENST00000327040.8_Nonsense_Mutation_p.S497*|PSD3_ENST00000523619.1_Nonsense_Mutation_p.S432*			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	497					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TCCTCCCCCTGATGTCCTCTC	0.488													C	18725328	G	C	18725328	4	2	294	1	0	0	0	0	0	1	0	0	12733	1294	45	4	1741	4	PSD3	8	18725328	Nonsense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		18725328	127638694	18	20324											
TLN1	7094	broad.mit.edu	37	chr9	35714763	35714763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctagagtcttaccttgcaGctctgcaccagcaggggctg	7	10	11	13	0	2	1	0	0	2	1	3	1	3	1	3	2	5	5	3	2	2	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:35714763G>C	ENST00000314888.9	-	22	3218	c.2865C>G	c.(2863-2865)agC>agG	p.S955R	TLN1_ENST00000540444.1_Missense_Mutation_p.S955R	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	955					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTACCTTGCAGCTCTGCACCA	0.597													C	35714763	G	C	35714763	3	2	294	1	0	0	0	0	1	0	0	0	16047	962	34	4	4904	4	TLN1	9	35714763	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		35714763	105498668	19	20325											
FAM120A	23196	broad.mit.edu	37	chr9	96326729	96326729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatgactctaaaacgtgCaatacaaatcctcatttaaa	19	11	3	8	1	2	1	1	1	1	0	3	1	3	1	1	0	3	1	1	0	9	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:96326729C>T	ENST00000277165.6	+	18	3458	c.3264C>T	c.(3262-3264)tgC>tgT	p.C1088C	FAM120A_ENST00000340893.4_Silent_p.C1042C|FAM120A_ENST00000333936.5_Silent_p.C1116C	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	1088	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTAAAACGTGCAATACAAATC	0.502													T	96326729	C	T	96326729	2	4	294	1	0	0	0	0	0	0	0	1	5460	718	25	2		2	FAM120A	9	96326729	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	60611966	96326729	44886702	20	20326											
KIAA0368	23392	broad.mit.edu	37	chr9	114246646	114246646	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaaacacgcctgtccaaAggaagagacgtggactcaga	14	4	14	9	2	1	2	1	0	0	2	2	6	2	5	2	4	1	0	2	4	3	0			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr9:114246646A>C	ENST00000259335.4	-	2	266	c.267T>G	c.(265-267)ccT>ccG	p.P89P		NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GCCTGTCCAAAGGAAGAGACG	0.697													C	114246646	A	C	114246646	2	2	294	1	0	0	0	0	0	0	0	1	8229	59	3	5		5	KIAA0368	9	114246646	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	17919917	114246646	26966785	21	20327											
RRM1	6240	broad.mit.edu	37	chr11	4159521	4159521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctaaaagataaagaaaagGtatcaaaagaggaagaagag	24	4	11	2	0	1	5	1	0	0	5	1	6	1	6	0	2	1	2	0	2	11	3	rs112706528		TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:4159521G>A	ENST00000300738.5	+	19	2491	c.2287G>A	c.(2287-2289)Gta>Ata	p.V763I	RRM1_ENST00000423050.2_Missense_Mutation_p.V666I|RRM1_ENST00000537197.1_Missense_Mutation_p.V425I|RRM1_ENST00000534285.1_Missense_Mutation_p.V541I	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	763					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	TAAAGAAAAGGTATCAAAAGA	0.418													A	4159521	G	A	4159521	3	1	294	1	0	0	0	0	1	0	0	0	13772	1261	44	2	2361	2	RRM1	11	4159521	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		4159521	130846995	22	20328											
OR4S1	256148	broad.mit.edu	37	chr11	48328354	48328354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagacacctacatggtaGgtctcatcgtggtggccaac	9	9	12	11	1	1	1	1	0	1	1	3	1	1	1	2	4	3	2	2	4	3	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:48328354G>T	ENST00000319988.1	+	1	580	c.580G>T	c.(580-582)Ggt>Tgt	p.G194C		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						CTACATGGTAGGTCTCATCGT	0.453													T	48328354	G	T	48328354	3	4	294	1	0	0	0	0	1	0	0	0	11158	1000	35	4	582	4	OR4S1	11	48328354	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	44168833	48328354	86678162	23	20329											
OR8K1	390157	broad.mit.edu	37	chr11	56113589	56113589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcatggggattacagaCaaccctgggctgcaggctcc	9	9	11	12	0	1	1	1	0	1	1	3	2	2	2	2	4	3	3	2	4	2	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:56113589C>A	ENST00000279783.2	+	1	169	c.75C>A	c.(73-75)gaC>gaA	p.D25E		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	25					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GGATTACAGACAACCCTGGGC	0.443										HNSCC(65;0.19)			A	56113589	C	A	56113589	3	1	294	1	0	0	0	0	1	0	0	0	11319	477	17	4	77	4	OR8K1	11	56113589	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	7785235	56113589	78892927	24	20330											
ZNF202	7753	broad.mit.edu	37	chr11	123601198	123601198	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactccccctcctcacccaCcgccttggtctcctgggttg	3	10	9	19	1	2	0	1	0	1	0	5	1	4	1	7	3	0	1	7	3	0	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr11:123601198C>A	ENST00000336139.4	-	3	761	c.399G>T	c.(397-399)cgG>cgT	p.R133R	ZNF202_ENST00000529691.1_Silent_p.R133R|ZNF202_ENST00000530393.1_Silent_p.R133R			O95125	ZN202_HUMAN	zinc finger protein 202	133					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCCTCACCCACCGCCTTGGTC	0.582													A	123601198	C	A	123601198	2	1	294	1	0	0	0	0	0	0	0	1	17864	494	18	4		4	ZNF202	11	123601198	Silent	SNP	C	TCGA-CS-5397-01A-01D-1893-08	67487609	123601198	11405318	25	20331											
FGF6	2251	broad.mit.edu	37	chr12	4553372	4553372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaaagagactcaccacgCctcgctccacagtggaaatt	12	7	7	15	2	1	1	1	0	0	1	4	3	3	2	4	1	0	1	4	1	2	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:4553372C>T	ENST00000228837.2	-	2	420	c.377G>A	c.(376-378)gGc>gAc	p.G126D		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	126					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			ACTCACCACGCCTCGCTCCAC	0.542													T	4553372	C	T	4553372	3	4	294	1	0	0	0	0	1	0	0	0	5905	739	26	2	257	2	FGF6	12	4553372	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		4553372	129298523	26	20332											
PKP2	5318	broad.mit.edu	37	chr12	32974416	32974416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgccacagccactccacGcccttggggttgctcttttc	6	11	9	15	1	1	0	0	0	1	0	3	1	2	0	4	2	3	2	4	2	1	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:32974416G>A	ENST00000340811.4	-	9	1995	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PKP2_ENST00000070846.6_Silent_p.G673G	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	673					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GCCACTCCACGCCCTTGGGGT	0.493													A	32974416	G	A	32974416	2	1	294	1	0	0	0	0	0	0	0	1	12062	1074	38	1		1	PKP2	12	32974416	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	28421044	32974416	100877479	27	20333											
NOS1	4842	broad.mit.edu	37	chr12	117705872	117705872	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctatagagaaccgcgatAttgatctccaccagcgcctg	12	8	9	12	3	1	2	0	1	1	1	2	4	1	2	4	0	3	1	4	0	5	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr12:117705872A>G	ENST00000317775.6	-	11	2602	c.1917T>C	c.(1915-1917)aaT>aaC	p.N639N	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.N639N	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	639					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GAACCGCGATATTGATCTCCA	0.512													G	117705872	A	G	117705872	2	3	294	1	0	0	0	0	0	0	0	1	10617	446	16	3		3	NOS1	12	117705872	Silent	SNP	A	TCGA-CS-5397-01A-01D-1893-08	84731456	117705872	16146023	28	20334											
TP53BP1	7158	broad.mit.edu	37	chr15	43714318	43714318	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactctacaattggctcttCagtctcctgcaaggaaaaaa	14	10	6	11	0	4	0	1	0	3	0	5	1	4	1	1	2	2	2	1	2	6	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr15:43714318C>A	ENST00000263801.3	-	19	4072	c.3820G>T	c.(3820-3822)Gaa>Taa	p.E1274*	TP53BP1_ENST00000450115.2_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382039.3_Nonsense_Mutation_p.E1279*|TP53BP1_ENST00000382044.4_Nonsense_Mutation_p.E1279*	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1274					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		ATTGGCTCTTCAGTCTCCTGC	0.433								Other conserved DNA damage response genes					A	43714318	C	A	43714318	4	1	294	1	0	0	0	0	0	1	0	0	16484	835	29	4	2138	4	TP53BP1	15	43714318	Nonsense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		43714318	58817074	29	20335											
GDPD3	79153	broad.mit.edu	37	chr16	30119725	30119725	+	Frame_Shift_Del	DEL	G	G	-																															cacagccaataactggttcaGgcaagagcaggaaaatggga																										TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr16:30119725delG	ENST00000406256.3	-	8	1113	c.736delC	c.(736-738)ctgfs	p.L246fs	RP11-455F5.4_ENST00000566190.1_RNA	NM_024307.2	NP_077283.2	Q7L5L3	GDPD3_HUMAN	glycerophosphodiester phosphodiesterase domain containing 3	246	GDPD.				glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)	11						AACTGGTTCAGGCAAGAGCAG	0.577													-	30119725	G	-	30119725	7	5	294	1	0	1	0	1	0	0	0	0	6381	991	35	0	232	0	GDPD3	16	30119725	Frame_Shift_Del	DEL	G	TCGA-CS-5397-01A-01D-1893-08		30119725	60235028	30	20336											
NF1	4763	broad.mit.edu	37	chr17	29563007	29563007	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgatcacatcctctgattgGcaacatgttagctttgaagt	10	14	9	8	0	2	3	1	3	1	0	3	3	3	3	1	1	2	3	1	1	3	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:29563007G>A	ENST00000358273.4	+	29	4325	c.3942G>A	c.(3940-3942)tgG>tgA	p.W1314*	NF1_ENST00000356175.3_Nonsense_Mutation_p.W1314*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1314	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCTCTGATTGGCAACATGTTA	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29563007	G	A	29563007	4	1	294	1	0	0	0	0	0	1	0	0	10432	1212	42	2	4117	2	NF1	17	29563007	Nonsense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		29563007	51632203	31	20337											
SPACA3	124912	broad.mit.edu	37	chr17	31323997	31323997	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaccccgaacgtccccaaCgtgtgccggatgtactgctc	7	8	9	17	4	1	0	1	0	0	0	3	2	2	1	5	1	5	2	5	1	3	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:31323997C>A	ENST00000580599.1	+	4	682	c.273C>A	c.(271-273)aaC>aaA	p.N91K	SPACA3_ENST00000394637.2_3'UTR|SPACA3_ENST00000269053.3_Missense_Mutation_p.N160K|SPACA3_ENST00000394638.1_Missense_Mutation_p.N57K			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	160					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			ACGTCCCCAACGTGTGCCGGA	0.582													A	31323997	C	A	31323997	3	1	294	1	0	0	0	0	1	0	0	0	15067	535	19	4	490	4	SPACA3	17	31323997	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	1760990	31323997	49871213	32	20338											
GH2	2689	broad.mit.edu	37	chr17	61957625	61957625	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtgggcactggagtagcaCcttccacgaccaggagaggc	9	6	15	11	1	0	1	0	0	0	1	1	4	1	2	3	5	1	3	3	5	1	2			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr17:61957625C>A	ENST00000456543.2	-	5	746	c.706G>T	c.(706-708)Gtg>Ttg	p.V236L	GH2_ENST00000423893.2_3'UTR|GH2_ENST00000332800.7_3'UTR|GH2_ENST00000449787.2_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	0						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TGGAGTAGCACCTTCCACGAC	0.557													A	61957625	C	A	61957625	3	1	294	1	0	0	0	0	1	0	0	0	6424	507	18	4	35	4	GH2	17	61957625	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08	30633628	61957625	19237585	33	20339											
ACAA2	10449	broad.mit.edu	37	chr18	47311703	47311703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcaacagccaagtactgggGagcaaaagcttcattcacct	13	8	8	12	0	3	0	3	0	0	0	3	1	3	1	2	2	5	3	2	2	5	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:47311703G>A	ENST00000285093.10	-	9	1448	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	ACAA2_ENST00000589432.1_Missense_Mutation_p.P270S|ACAA2_ENST00000587994.1_Missense_Mutation_p.P322S	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	325					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGTACTGGGGAGCAAAAGCT	0.403													A	47311703	G	A	47311703	3	1	294	1	0	0	0	0	1	0	0	0	105	1174	41	2	228	2	ACAA2	18	47311703	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		47311703	30765545	34	20340											
SERPINB3	6317	broad.mit.edu	37	chr18	61326675	61326675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccgaagagcttgttggcGatcttcagctcatatgcatc	8	13	9	11	2	4	1	2	0	2	1	6	3	4	1	1	1	3	4	1	1	2	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr18:61326675G>A	ENST00000283752.5	-	4	452	c.309C>T	c.(307-309)atC>atT	p.I103I	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Silent_p.I103I	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	103					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						GCTTGTTGGCGATCTTCAGCT	0.398													A	61326675	G	A	61326675	2	1	294	1	0	0	0	0	0	0	0	1	14195	1048	37	1		1	SERPINB3	18	61326675	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	14014972	61326675	16750573	35	20341											
UNC13A	23025	broad.mit.edu	37	chr19	17778978	17778978	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcttcttggcccagtagCgagcctcctcttcaggaatg	7	10	10	14	1	3	0	1	0	2	0	4	2	4	1	4	2	3	2	4	2	2	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:17778978C>A	ENST00000428389.2	-	7	679	c.680G>T	c.(679-681)cGc>cTc	p.R227L	UNC13A_ENST00000552293.1_Missense_Mutation_p.R139L|UNC13A_ENST00000519716.2_Missense_Mutation_p.R139L|UNC13A_ENST00000252773.7_Missense_Mutation_p.R139L|UNC13A_ENST00000550896.1_Missense_Mutation_p.R139L|UNC13A_ENST00000551649.1_Missense_Mutation_p.R139L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	139					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GGCCCAGTAGCGAGCCTCCTC	0.582													A	17778978	C	A	17778978	3	1	294	1	0	0	0	0	1	0	0	0	17086	768	27	4	4843	4	UNC13A	19	17778978	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		17778978	41350005	36	20342											
HAUS5	23354	broad.mit.edu	37	chr19	36108982	36108982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccctagacgctgctgAcaaaccaccccccaggccac	9	4	6	22	1	0	2	0	1	0	1	1	2	1	2	8	1	2	2	8	1	2	1			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr19:36108982A>G	ENST00000203166.5	+	10	731	c.706A>G	c.(706-708)Aca>Gca	p.T236A	HAUS5_ENST00000379045.2_Missense_Mutation_p.T236A	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	236					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GACGCTGCTGACAAACCACCC	0.637													G	36108982	A	G	36108982	3	3	294	1	0	0	0	0	1	0	0	0	7024	275	10	3	744	3	HAUS5	19	36108982	Missense_Mutation	SNP	A	TCGA-CS-5397-01A-01D-1893-08	18330004	36108982	23020001	37	20343											
TRPC4AP	26133	broad.mit.edu	37	chr20	33657162	33657162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtttcttgggtaagtttCctctcttcagtaacaaatgc	8	16	9	8	0	3	0	1	0	2	0	5	0	4	0	1	2	2	4	1	2	3	6			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:33657162C>A	ENST00000252015.2	-	3	440	c.351G>T	c.(349-351)agG>agT	p.R117S	TRPC4AP_ENST00000432634.2_Intron|TRPC4AP_ENST00000451813.2_Missense_Mutation_p.R117S			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	117	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			GGGTAAGTTTCCTCTCTTCAG	0.333													A	33657162	C	A	33657162	3	1	294	1	0	0	0	0	1	0	0	0	16682	854	30	4	2110	4	TRPC4AP	20	33657162	Missense_Mutation	SNP	C	TCGA-CS-5397-01A-01D-1893-08		33657162	29368358	38	20344											
ZNF831	128611	broad.mit.edu	37	chr20	57829784	57829784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgacgatgaagaccgattaGttatagaaatatgaagcttc	15	10	10	6	3	0	4	0	2	0	2	1	7	0	4	1	0	1	2	1	0	7	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chr20:57829784G>A	ENST00000371030.2	+	5	5020	c.5020G>A	c.(5020-5022)Gtt>Att	p.V1674I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1674						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGACCGATTAGTTATAGAAAT	0.443													A	57829784	G	A	57829784	3	1	294	1	0	0	0	0	1	0	0	0	18284	1029	36	2	5038	2	ZNF831	20	57829784	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	24172622	57829784	5195736	39	20345											
TMEM27	57393	broad.mit.edu	37	chrX	15682843	15682843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaaggctacatacctGgttgacagagttcagcatga	13	11	9	8	0	2	3	2	2	0	1	2	3	2	3	1	2	3	4	1	2	4	5			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:15682843G>C	ENST00000380342.3	-	1	311	c.56C>G	c.(55-57)cCa>cGa	p.P19R		NM_020665.4	NP_065716.1	Q9HBJ8	TMM27_HUMAN	transmembrane protein 27	19					proteolysis	integral to membrane	metallopeptidase activity|peptidyl-dipeptidase activity			endometrium(3)|lung(4)|ovary(1)	8	Hepatocellular(33;0.183)					CTACATACCTGGTTGACAGAG	0.363													C	15682843	G	C	15682843	3	2	294	1	0	0	0	0	1	0	0	0	16252	1348	47	4	636	4	TMEM27	23	15682843	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08		15682843	139587717	40	20346											
MAP7D2	256714	broad.mit.edu	37	chrX	20044027	20044027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagaccctgggtagggagGtttcgttgtctttggagact	7	12	16	6	1	1	2	0	0	1	2	2	5	1	3	1	5	0	3	1	5	1	4			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:20044027G>A	ENST00000379651.3	-	8	946	c.928C>T	c.(928-930)Cct>Tct	p.P310S	MAP7D2_ENST00000452324.3_Missense_Mutation_p.P258S|MAP7D2_ENST00000379643.5_Missense_Mutation_p.P351S|MAP7D2_ENST00000466145.1_5'UTR|MAP7D2_ENST00000543767.1_Missense_Mutation_p.P195S|MAP7D2_ENST00000443379.3_Missense_Mutation_p.P265S	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	310										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						GGGTAGGGAGGTTTCGTTGTC	0.488													A	20044027	G	A	20044027	3	1	294	1	0	0	0	0	1	0	0	0	9343	1261	44	2	1302	2	MAP7D2	23	20044027	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	4361184	20044027	135226533	41	20347											
DMD	1756	broad.mit.edu	37	chrX	31747756	31747756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaaacttacttcgatccGtaatgattgttctagcctct	12	15	5	9	2	2	1	0	1	2	0	4	2	3	1	2	0	3	2	2	0	6	7			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:31747756G>A	ENST00000357033.4	-	52	7858	c.7652C>T	c.(7651-7653)aCg>aTg	p.T2551M	DMD_ENST00000541735.1_Missense_Mutation_p.T91M|DMD_ENST00000474231.1_Missense_Mutation_p.T91M|DMD_ENST00000343523.2_Missense_Mutation_p.T91M|DMD_ENST00000378707.3_Missense_Mutation_p.T91M|DMD_ENST00000359836.1_Missense_Mutation_p.T91M|DMD_ENST00000378677.2_Missense_Mutation_p.T2547M	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2551					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.T2546M(2)|p.T91M(2)|p.T2547M(2)|p.T1210M(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ACTTCGATCCGTAATGATTGT	0.393													A	31747756	G	A	31747756	3	1	294	1	0	0	0	0	1	0	0	0	4619	1145	40	1	3665	1	DMD	23	31747756	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	11703729	31747756	123522804	42	20348											
BCOR	54880	broad.mit.edu	37	chrX	39932304	39932304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagtttccaaaatctcGgaaaaccgattccggagggt	11	10	10	10	3	1	0	0	0	1	0	4	3	3	2	3	3	2	2	3	3	5	3			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:39932304G>A	ENST00000342274.4	-	4	2657	c.2295C>T	c.(2293-2295)tcC>tcT	p.S765S	BCOR_ENST00000378444.4_Silent_p.S765S|BCOR_ENST00000378455.4_Silent_p.S765S|BCOR_ENST00000397354.3_Silent_p.S765S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	765					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCAAAATCTCGGAAAACCGAT	0.512			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39932304	G	A	39932304	2	1	294	1	0	0	0	0	0	0	0	1	1391	1103	39	1		1	BCOR	23	39932304	Silent	SNP	G	TCGA-CS-5397-01A-01D-1893-08	8184548	39932304	115338256	43	20349											
ZNF41	7592	broad.mit.edu	37	chrX	47308566	47308566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctattatgattatgtgaGtttaaagtatgcttcaaaat	13	19	6	3	0	2	2	1	2	1	0	2	2	2	2	0	0	1	3	0	0	8	8			TCGA-CS-5397-01A-01D-1893-08	TCGA-CS-5397-10A-03D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9932b51d-ebd9-4cbc-8c8c-83a5661a16c0	41c76fb1-1c57-4b6b-92f9-835ea17dbe23	g.chrX:47308566G>T	ENST00000377065.4	-	5	1242	c.603C>A	c.(601-603)aaC>aaA	p.N201K	ZNF41_ENST00000313116.7_Missense_Mutation_p.N201K|ZNF41_ENST00000397050.2_Missense_Mutation_p.N211K	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	243						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N201K(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GATTATGTGAGTTTAAAGTAT	0.328													T	47308566	G	T	47308566	3	4	294	1	0	0	0	0	1	0	0	0	17990	1020	36	4	1740	4	ZNF41	23	47308566	Missense_Mutation	SNP	G	TCGA-CS-5397-01A-01D-1893-08	7376262	47308566	107961994	44	20350											
SLC1A7	6512	broad.mit.edu	37	chr1	53553886	53553886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcactggcttggtctcgCagggcagcagtttctggtga	5	11	15	10	1	3	1	1	1	2	0	4	1	3	1	0	5	1	6	0	5	0	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:53553886C>T	ENST00000371494.4	-	11	1605	c.1478G>A	c.(1477-1479)tGc>tAc	p.C493Y	SLC1A7_ENST00000488036.1_5'UTR	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	493						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTGGTCTCGCAGGGCAGCAG	0.607													T	53553886	C	T	53553886	3	4	295	1	0	0	0	0	1	0	0	0	14531	710	25	2	208	2	SLC1A7	1	53553886	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		53553886	195696735	1	20351											
SELE	6401	broad.mit.edu	37	chr1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaactctacctttacacGttggcttctcgttgtcccaa	9	13	6	13	2	2	0	0	0	2	0	4	1	3	0	2	1	4	3	2	1	5	6			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367782.4_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443													A	169698637	G	A	169698637	3	1	295	1	0	0	0	0	1	0	0	0	14106	1145	40	1	971	1	SELE	1	169698637	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	116144751	169698637	79551984	2	20352											
CACNA1S	779	broad.mit.edu	37	chr1	201047161	201047161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatagacatgaagtactggcGcaggcccagcccgtacatct	11	7	11	12	2	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	4	3	rs9333651		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:201047161G>A	ENST00000362061.3	-	11	1691	c.1465C>T	c.(1465-1467)Cgc>Tgc	p.R489C	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R489C	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	489					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AAGTACTGGCGCAGGCCCAGC	0.582													A	201047161	G	A	201047161	3	1	295	1	0	0	0	0	1	0	0	0	2573	1087	38	1	4292	1	CACNA1S	1	201047161	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	31348524	201047161	48203460	3	20353											
USH2A	7399	broad.mit.edu	37	chr1	216251647	216251647	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcaatagatccacttGtgtaaaggcaagactggtat	13	9	9	10	0	0	2	0	0	0	2	1	2	1	2	3	2	1	4	3	2	6	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr1:216251647G>A	ENST00000366943.2	-	27	5742	c.5356C>T	c.(5356-5358)Caa>Taa	p.Q1786*	RP11-22M7.2_ENST00000430890.1_RNA|USH2A_ENST00000307340.3_Nonsense_Mutation_p.Q1786*|RP11-22M7.2_ENST00000446411.1_RNA|RP11-22M7.2_ENST00000445619.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1786	Laminin G-like 2.				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)		AGATCCACTTGTGTAAAGGCA	0.348										HNSCC(13;0.011)			A	216251647	G	A	216251647	4	1	295	1	0	0	0	0	0	1	0	0	17138	1386	48	2	10436	2	USH2A	1	216251647	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	15204486	216251647	32998974	4	20354											
GREB1	9687	broad.mit.edu	37	chr2	11725320	11725320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggccccccaaaaaacGccacaaagggtggtctccag	11	4	10	16	2	1	0	0	0	1	0	3	0	2	0	6	3	1	0	6	3	4	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:11725320G>A	ENST00000381486.2	+	8	1235	c.935G>A	c.(934-936)cGc>cAc	p.R312H	GREB1_ENST00000381483.2_Missense_Mutation_p.R312H|GREB1_ENST00000234142.5_Missense_Mutation_p.R312H|GREB1_ENST00000263834.5_Missense_Mutation_p.R312H	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	312						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CCCAAAAAACGCCACAAAGGG	0.512													A	11725320	G	A	11725320	3	1	295	1	0	0	0	0	1	0	0	0	6815	1087	38	1	961	1	GREB1	2	11725320	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		11725320	231474053	5	20355											
KCNS3	3790	broad.mit.edu	37	chr2	18113040	18113040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaattctggaaaaaccctctGaacatcattgactttgtctc	13	13	5	10	0	4	2	1	2	3	0	5	3	4	3	1	1	2	0	1	1	4	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:18113040G>A	ENST00000403915.1	+	3	1216	c.765G>A	c.(763-765)ctG>ctA	p.L255L	KCNS3_ENST00000304101.4_Silent_p.L255L|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	255					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAAACCCTCTGAACATCATTG	0.512													A	18113040	G	A	18113040	2	1	295	1	0	0	0	0	0	0	0	1	8148	1277	45	2		2	KCNS3	2	18113040	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	6387720	18113040	225086333	6	20356											
CENPA	1058	broad.mit.edu	37	chr2	27016113	27016113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatgtgcaactggcccGgaggatccggggccttgagg	9	6	17	9	2	0	1	0	1	0	0	1	4	1	4	3	7	2	1	3	7	2	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:27016113G>A	ENST00000335756.4	+	4	589	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	CENPA_ENST00000475662.1_3'UTR|CENPA_ENST00000233505.8_Missense_Mutation_p.R104Q	NM_001809.3	NP_001800.1	P49450	CENPA_HUMAN	centromere protein A	130	H3-like.				CenH3-containing nucleosome assembly at centromere|establishment of mitotic spindle orientation|interspecies interaction between organisms|kinetochore assembly|mitotic prometaphase|protein localization to chromosome, centromeric region	condensed nuclear chromosome kinetochore|cytosol|nucleoplasm|nucleosome	chromatin binding|DNA binding|protein binding			endometrium(1)|large_intestine(3)|lung(3)|urinary_tract(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAACTGGCCCGGAGGATCCGG	0.552													A	27016113	G	A	27016113	3	1	295	1	0	0	0	0	1	0	0	0	3256	1116	39	1	403	1	CENPA	2	27016113	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	8903073	27016113	216183260	7	20357											
G6PC2	57818	broad.mit.edu	37	chr2	169764413	169764413	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttccggttgctctgtgccTtgacctcattgacaatactg	6	14	9	12	1	2	2	1	2	1	0	3	2	3	2	3	1	3	3	3	1	2	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:169764413T>G	ENST00000375363.3	+	5	984	c.892T>G	c.(892-894)Ttg>Gtg	p.L298V	SPC25_ENST00000472216.2_Intron|G6PC2_ENST00000461586.1_3'UTR	NM_021176.2	NP_066999.1	Q9NQR9	G6PC2_HUMAN	glucose-6-phosphatase, catalytic, 2	298					gluconeogenesis|glucose homeostasis|glucose transport|regulation of insulin secretion|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	13						GCTCTGTGCCTTGACCTCATT	0.473													G	169764413	T	G	169764413	3	3	295	1	0	0	0	0	1	0	0	0	6196	1606	56	5	910	5	G6PC2	2	169764413	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	142748300	169764413	73434960	8	20358											
TTN	7273	broad.mit.edu	37	chr2	179453437	179453437	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggacccatcgtgttgaatgCttttcctttttctccaaaaa	9	15	7	10	1	1	1	0	1	1	0	4	2	2	2	3	1	1	2	3	1	3	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:179453437C>T	ENST00000589042.1	-	304	63239	c.63015G>A	c.(63013-63015)aaG>aaA	p.K21005K	TTN_ENST00000342175.6_Silent_p.K12132K|TTN_ENST00000591111.1_Silent_p.K19364K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000342992.6_Silent_p.K18437K|TTN_ENST00000359218.5_Silent_p.K12065K|TTN_ENST00000460472.2_Silent_p.K11940K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19364	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTTGAATGCTTTTCCTTTT	0.418													T	179453437	C	T	179453437	2	4	295	1	0	0	0	0	0	0	0	1	16837	796	28	2		2	TTN	2	179453437	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	9689024	179453437	63745936	9	20359											
GPR55	9290	broad.mit.edu	37	chr2	231774733	231774733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccgttagccccgggagatCgtggtgtcctgcaggaccag	6	9	14	12	3	0	1	0	0	0	1	3	3	2	2	5	3	2	2	5	3	1	2	rs146835586		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:231774733C>T	ENST00000392040.1	-	2	1137	c.945G>A	c.(943-945)acG>acA	p.T315T	GPR55_ENST00000392039.2_Silent_p.T315T|AC012507.4_ENST00000454890.1_RNA	NM_005683.3	NP_005674.2	Q9Y2T6	GPR55_HUMAN	G protein-coupled receptor 55	315					activation of phospholipase C activity|bone resorption|negative regulation of osteoclast differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of Rho protein signal transduction	integral to plasma membrane	cannabinoid receptor activity			endometrium(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;1.04e-11)|all cancers(144;4.22e-09)|LUSC - Lung squamous cell carcinoma(224;0.0119)|Lung(119;0.0145)		CCCGGGAGATCGTGGTGTCCT	0.552													T	231774733	C	T	231774733	2	4	295	1	0	0	0	0	0	0	0	1	6753	871	31	1		1	GPR55	2	231774733	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	52321296	231774733	11424640	10	20360											
COL6A3	1293	broad.mit.edu	37	chr2	238275437	238275437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggacgttgcccacgCggaacgctgtggcgctgttg	4	9	15	13	5	0	0	0	0	0	0	1	2	1	2	2	3	2	5	2	3	1	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr2:238275437C>T	ENST00000295550.4	-	11	5845	c.5393G>A	c.(5392-5394)cGc>cAc	p.R1798H	COL6A3_ENST00000353578.4_Missense_Mutation_p.R1592H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R1191H|COL6A3_ENST00000347401.3_Missense_Mutation_p.R1597H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1592H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1598H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1798	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity	p.R1798H(1)		breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GTTGCCCACGCGGAACGCTGT	0.547													T	238275437	C	T	238275437	3	4	295	1	0	0	0	0	1	0	0	0	3732	768	27	1	4276	1	COL6A3	2	238275437	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	6500704	238275437	4923936	11	20361											
ITPR1	3708	broad.mit.edu	37	chr3	4819013	4819013	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgatcctcaatgatatCaatcctttgggaaagaagag	13	10	9	9	0	2	4	2	2	0	2	4	5	4	5	3	1	0	0	3	1	5	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:4819013C>A	ENST00000354582.6	+	47	6551	c.6201C>A	c.(6199-6201)atC>atA	p.I2067I	ITPR1_ENST00000423119.2_Silent_p.I2034I|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.I2067I|ITPR1_ENST00000357086.4_Silent_p.I2034I|ITPR1_ENST00000456211.2_Silent_p.I2019I|ITPR1_ENST00000443694.2_Silent_p.I2067I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2082					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		TCAATGATATCAATCCTTTGG	0.423													A	4819013	C	A	4819013	2	1	295	1	0	0	0	0	0	0	0	1	7978	816	29	4		4	ITPR1	3	4819013	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08		4819013	193203417	12	20362											
TTC21A	199223	broad.mit.edu	37	chr3	39179140	39179140	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggctgacatttactGccagggcagcaagttcgacc	8	9	11	13	1	0	1	0	1	0	0	1	2	0	1	3	2	4	5	3	2	2	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr3:39179140G>C	ENST00000301819.6	+	26	3815	c.3638G>C	c.(3637-3639)tGc>tCc	p.C1213S	TTC21A_ENST00000440121.1_Missense_Mutation_p.C1164S|TTC21A_ENST00000493856.1_3'UTR|TTC21A_ENST00000431162.2_Missense_Mutation_p.C1212S	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	1212							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		GACATTTACTGCCAGGGCAGC	0.607													C	39179140	G	C	39179140	3	2	295	1	0	0	0	0	1	0	0	0	16789	1319	46	4	3740	4	TTC21A	3	39179140	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	34360127	39179140	158843290	13	20363											
GPR98	84059	broad.mit.edu	37	chr5	90136725	90136725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatattctcaacagagtgCtccataccatcagcatgaaa	15	10	6	10	0	2	3	2	2	1	1	4	3	3	3	2	0	4	2	2	0	4	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:90136725C>T	ENST00000405460.2	+	78	17038	c.16942C>T	c.(16942-16944)Ctc>Ttc	p.L5648F	GPR98_ENST00000425867.2_Missense_Mutation_p.L1309F	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5648					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CAACAGAGTGCTCCATACCAT	0.423													T	90136725	C	T	90136725	3	4	295	1	0	0	0	0	1	0	0	0	6776	797	28	2	17252	2	GPR98	5	90136725	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		90136725	90778535	14	20364											
FCHSD1	89848	broad.mit.edu	37	chr5	141028985	141028985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaagcacctgctccttggCgctccgccctgtaccccctg	4	9	8	20	2	0	0	0	0	0	0	2	0	2	0	7	1	3	4	7	1	2	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141028985C>T	ENST00000435817.2	-	5	402	c.352G>A	c.(352-354)Gcc>Acc	p.A118T	FCHSD1_ENST00000519800.1_Missense_Mutation_p.A116T|FCHSD1_ENST00000522126.1_Missense_Mutation_p.A42T|FCHSD1_ENST00000522783.1_Missense_Mutation_p.A116T	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	118									FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTCCTTGGCGCTCCGCCCT	0.612													T	141028985	C	T	141028985	3	4	295	1	0	0	0	0	1	0	0	0	5838	768	27	1	1784	1	FCHSD1	5	141028985	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	50892260	141028985	39886275	15	20365											
PCDH12	51294	broad.mit.edu	37	chr5	141335542	141335542	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgcccccgagtctgcAtctcttgccacaatggttgt	6	13	8	14	1	2	0	0	0	2	0	3	1	2	0	4	1	3	2	4	1	1	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:141335542A>T	ENST00000231484.3	-	1	3085	c.1875T>A	c.(1873-1875)gaT>gaA	p.D625E		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	625	Cadherin 6.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGAGTCTGCATCTCTTGCCA	0.582													T	141335542	A	T	141335542	3	4	295	1	0	0	0	0	1	0	0	0	11586	214	8	5	1695	5	PCDH12	5	141335542	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08	306557	141335542	39579718	16	20366											
SH3TC2	79628	broad.mit.edu	37	chr5	148411245	148411245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagaaaggcagagttcCtgctcctgcatcggggcaaa	11	7	12	11	1	0	2	0	1	0	2	3	3	2	2	2	3	2	5	2	3	2	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:148411245C>T	ENST00000515425.1	-	9	1108	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K	SH3TC2_ENST00000538184.1_5'UTR|SH3TC2_ENST00000512049.1_Missense_Mutation_p.R329K|SH3TC2_ENST00000394358.2_Missense_Mutation_p.R221K|SH3TC2_ENST00000513340.1_5'UTR	NM_024577.3	NP_078853.2	Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	336							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCAGAGTTCCTGCTCCTGCA	0.522													T	148411245	C	T	148411245	3	4	295	1	0	0	0	0	1	0	0	0	14356	681	24	2	2895	2	SH3TC2	5	148411245	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	7075703	148411245	32504015	17	20367											
GRIA1	2890	broad.mit.edu	37	chr5	153056693	153056693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgttccctggggccaagGgatcgacatccagagagctc	9	7	13	12	1	0	1	0	0	0	1	4	4	2	2	3	3	2	3	3	3	1	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr5:153056693G>A	ENST00000285900.5	+	7	1344	c.1001G>A	c.(1000-1002)gGg>gAg	p.G334E	GRIA1_ENST00000340592.5_Missense_Mutation_p.G334E|GRIA1_ENST00000518142.1_Missense_Mutation_p.G254E|GRIA1_ENST00000518783.1_Missense_Mutation_p.G344E|GRIA1_ENST00000521843.2_Missense_Mutation_p.G265E|GRIA1_ENST00000448073.4_Missense_Mutation_p.G344E	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	334					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TGGGGCCAAGGGATCGACATC	0.537													A	153056693	G	A	153056693	3	1	295	1	0	0	0	0	1	0	0	0	6822	1232	43	2	1027	2	GRIA1	5	153056693	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	4645448	153056693	27858567	18	20368											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906668	32906668	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccttgttgaaggagaTgcagtatgtgaaatcctttg	11	13	11	6	0	0	4	0	2	0	2	2	5	2	4	2	1	1	3	2	1	3	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:32906668T>G	ENST00000416244.2	-	2	324	c.130A>C	c.(130-132)Atc>Ctc	p.I44L	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.I44L|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.I76L			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	44	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGAAGGAGATGCAGTATGTG	0.527													G	32906668	T	G	32906668	3	3	295	1	0	0	0	0	1	0	0	0	7254	1464	51	5	681	5	HLA-DMB	6	32906668	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08		32906668	138208399	19	20369											
LAMA4	3910	broad.mit.edu	37	chr6	112469437	112469437	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgtgaccagttggttaGattgttggccatgggggcag	7	13	15	6	0	1	2	0	1	1	1	1	2	1	2	2	4	0	4	2	4	1	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:112469437G>C	ENST00000230538.7	-	18	2672	c.2275C>G	c.(2275-2277)Cta>Gta	p.L759V	LAMA4_ENST00000522006.1_Missense_Mutation_p.L752V|LAMA4_ENST00000389463.4_Missense_Mutation_p.L752V|LAMA4_ENST00000424408.2_Missense_Mutation_p.L752V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	759	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		CAGTTGGTTAGATTGTTGGCC	0.517													C	112469437	G	C	112469437	3	2	295	1	0	0	0	0	1	0	0	0	8667	933	33	4	3284	4	LAMA4	6	112469437	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	79562769	112469437	58645630	20	20370											
TCTE3	6991	broad.mit.edu	37	chr6	170144257	170144257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaaactttaattttgcCagggcactcttccattcttt	9	17	5	10	0	2	0	0	0	2	0	3	0	3	0	2	1	3	2	2	1	3	8			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr6:170144257C>T	ENST00000366774.3	-	2	334	c.234G>A	c.(232-234)ctG>ctA	p.L78L		NM_174910.1	NP_777570.1	Q8IZS6	TC1D3_HUMAN	t-complex-associated-testis-expressed 3	78					transport	cytoplasm|dynein complex|membrane|microtubule	motor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|prostate(1)	4		Breast(66;0.000338)		OV - Ovarian serous cystadenocarcinoma(33;1.08e-21)|BRCA - Breast invasive adenocarcinoma(81;1.32e-07)|GBM - Glioblastoma multiforme(31;0.00157)		TTAATTTTGCCAGGGCACTCT	0.373													T	170144257	C	T	170144257	2	4	295	1	0	0	0	0	0	0	0	1	15818	581	21	2		2	TCTE3	6	170144257	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	57674820	170144257	970810	21	20371											
ACTB	60	broad.mit.edu	37	chr7	5567243	5567243	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttccagtttttaaatcCtgagtcaagccaaaaaaaaa	17	10	5	9	1	1	1	1	1	0	0	3	1	3	1	4	0	1	2	4	0	7	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:5567243C>T	ENST00000464611.1	-	3	254		c.e3-1		ACTB_ENST00000331789.5_3'UTR			P60709	ACTB_HUMAN	actin, beta						'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		TTTTTAAATCCTGAGTCAAGC	0.398													T	5567243	C	T	5567243	5	4	295	1	0	0	0	0	0	0	1	0	193	696	24	2		2	ACTB	7	5567243	Splice_Site	SNP	C	TCGA-CS-6186-01A-12D-2024-08		5567243	153571420	22	20372											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657632	95657632	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatcagctgctgcacacaCggtaatgcaaacttttgcca	11	11	7	12	1	1	0	1	0	0	0	1	0	1	0	1	1	6	5	1	1	3	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:95657632C>T	ENST00000324972.6	+	11	1359	c.1166C>T	c.(1165-1167)aCg>aTg	p.T389M	DYNC1I1_ENST00000359388.4_Splice_Site_p.T352M|DYNC1I1_ENST00000437599.1_Splice_Site_p.T369M|DYNC1I1_ENST00000457059.1_Splice_Site_p.T372M|DYNC1I1_ENST00000537881.1_Splice_Site_p.T352M|DYNC1I1_ENST00000447467.2_Splice_Site_p.T372M	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	389					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity	p.T389M(1)		NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GCTGCACACACGGTAATGCAA	0.493													T	95657632	C	T	95657632	5	4	295	1	0	0	0	0	0	0	1	0	4881	550	19	1	1204	1	DYNC1I1	7	95657632	Splice_Site	SNP	C	TCGA-CS-6186-01A-12D-2024-08	90090389	95657632	63481031	23	20373											
LAMB1	3912	broad.mit.edu	37	chr7	107616242	107616242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgacagtcatcacacaCgcctccgctgacgttccccg	7	8	9	17	4	2	2	2	2	0	0	4	2	4	2	4	0	1	3	4	0	0	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr7:107616242C>T	ENST00000393561.1	-	8	1337	c.1153G>A	c.(1153-1155)Gtg>Atg	p.V385M	LAMB1_ENST00000222399.6_Missense_Mutation_p.V361M|LAMB1_ENST00000393560.1_Missense_Mutation_p.V361M			P07942	LAMB1_HUMAN	laminin, beta 1	361	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCATCACACACGCCTCCGCTG	0.517													T	107616242	C	T	107616242	3	4	295	1	0	0	0	0	1	0	0	0	8669	536	19	1	4379	1	LAMB1	7	107616242	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	11958610	107616242	51522421	24	20374											
DOCK5	80005	broad.mit.edu	37	chr8	25198440	25198440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtttaataattcaattcGccagttatttcttgctttca	10	19	5	7	1	3	1	2	1	1	0	4	1	3	1	1	0	1	3	1	0	4	9			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:25198440G>A	ENST00000276440.7	+	23	2419	c.2375G>A	c.(2374-2376)cGc>cAc	p.R792H		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	792						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R792H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATTCAATTCGCCAGTTATTT	0.398													A	25198440	G	A	25198440	3	1	295	1	0	0	0	0	1	0	0	0	4729	1087	38	1	2465	1	DOCK5	8	25198440	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		25198440	121165582	25	20375											
ASAP1	50807	broad.mit.edu	37	chr8	131149272	131149272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaaggttcaacttggctgGttgcctgttagactggaaaa	11	11	13	6	0	1	2	1	0	0	2	1	4	1	3	1	4	2	4	1	4	5	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr8:131149272G>T	ENST00000357668.1	-	13	1120	c.1093C>A	c.(1093-1095)Cca>Aca	p.P365T	ASAP1_ENST00000518721.1_Missense_Mutation_p.P365T			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	365	PH.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						AACTTGGCTGGTTGCCTGTTA	0.448													T	131149272	G	T	131149272	3	4	295	1	0	0	0	0	1	0	0	0	1015	1261	44	4	2364	4	ASAP1	8	131149272	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	105950832	131149272	15214750	26	20376											
MAMDC2	256691	broad.mit.edu	37	chr9	72724721	72724721	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacaaccggctactgtattgGtaagtgggcttcattttcat	9	14	10	8	1	2	0	2	0	0	0	2	1	2	0	1	3	2	4	1	3	4	7			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:72724721G>A	ENST00000377182.4	+	4	1122		c.e4+1		MAMDC2-AS1_ENST00000591368.1_RNA|MAMDC2-AS1_ENST00000414515.3_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2							endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						TACTGTATTGGTAAGTGGGCT	0.368													A	72724721	G	A	72724721	5	1	295	1	0	0	0	0	0	0	1	0	9278	1275	44	2	520	2	MAMDC2	9	72724721	Splice_Site	SNP	G	TCGA-CS-6186-01A-12D-2024-08		72724721	68488710	27	20377											
OR1N1	138883	broad.mit.edu	37	chr9	125289214	125289214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaatggccacatagCggtcatacgccatggcagcc	10	6	13	12	2	1	0	1	0	0	0	1	0	1	0	3	5	3	2	3	5	3	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:125289214C>T	ENST00000304880.2	-	1	358	c.359G>A	c.(358-360)cGc>cAc	p.R120H		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGCCACATAGCGGTCATACGC	0.512													T	125289214	C	T	125289214	3	4	295	1	0	0	0	0	1	0	0	0	11045	768	27	1	580	1	OR1N1	9	125289214	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	52564493	125289214	15924217	28	20378											
GOLGA2	2801	broad.mit.edu	37	chr9	131022430	131022430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcttgacgtgctgctcCgactgcagtgcgctggtgat	4	12	12	13	3	1	2	0	2	1	0	3	3	3	2	2	1	4	4	2	1	0	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr9:131022430C>T	ENST00000421699.2	-	18	1728	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S	GOLGA2_ENST00000609374.1_Silent_p.S560S	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	572						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CGTGCTGCTCCGACTGCAGTG	0.592													T	131022430	C	T	131022430	2	4	295	1	0	0	0	0	0	0	0	1	6608	639	23	1		1	GOLGA2	9	131022430	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	5733216	131022430	10191001	29	20379											
ANKRD1	27063	broad.mit.edu	37	chr10	92678671	92678671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacaagaatttttctactActggcagtttattctccaga	11	15	6	9	0	2	3	0	1	2	2	3	3	2	3	1	1	2	2	1	1	5	7			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:92678671A>G	ENST00000371697.3	-	4	652	c.404T>C	c.(403-405)gTa>gCa	p.V135A		NM_014391.2	NP_055206.2	Q15327	ANKR1_HUMAN	ankyrin repeat domain 1 (cardiac muscle)	135					cellular lipid metabolic process|defense response|signal transduction		DNA binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|prostate(3)|skin(1)	27		Colorectal(252;0.0475)				TTTTTCTACTACTGGCAGTTT	0.343													G	92678671	A	G	92678671	3	3	295	1	0	0	0	0	1	0	0	0	637	391	14	3	579	3	ANKRD1	10	92678671	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08		92678671	42856076	30	20380											
TMEM180	79847	broad.mit.edu	37	chr10	104233397	104233397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccggcgctggggcgtctaCgcggtggtgcgggggctctt	1	9	20	11	6	2	0	0	0	2	0	2	0	2	0	1	7	3	2	1	7	1	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:104233397C>T	ENST00000238936.4	+	8	1233	c.996C>T	c.(994-996)taC>taT	p.Y332Y	TMEM180_ENST00000366277.2_Silent_p.Y61Y	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	332						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GGGGCGTCTACGCGGTGGTGC	0.637													T	104233397	C	T	104233397	2	4	295	1	0	0	0	0	0	0	0	1	16199	547	19	1		1	TMEM180	10	104233397	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	11554726	104233397	31301350	31	20381											
TACC2	10579	broad.mit.edu	37	chr10	123844064	123844064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgagcccactgttccCgaaggagccatctgggaggg	7	7	16	11	1	1	1	0	1	1	0	2	4	2	3	3	4	2	2	3	4	1	1			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr10:123844064C>T	ENST00000369005.1	+	4	2389	c.2049C>T	c.(2047-2049)ccC>ccT	p.P683P	TACC2_ENST00000334433.3_Silent_p.P683P|TACC2_ENST00000515273.1_Silent_p.P683P|TACC2_ENST00000453444.2_Silent_p.P683P|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P683P|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	683						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCACTGTTCCCGAAGGAGCCA	0.582													T	123844064	C	T	123844064	2	4	295	1	0	0	0	0	0	0	0	1	15599	639	23	1		1	TACC2	10	123844064	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	19610667	123844064	11690683	32	20382											
MUC5B	727897	broad.mit.edu	37	chr11	1271606	1271606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccaaagccactccctcctCcagtccagggactgcaactg	9	7	7	18	0	0	0	0	0	0	0	5	1	5	1	6	1	3	1	6	1	2	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:1271606C>T	ENST00000447027.1	+	31	13563	c.13505C>T	c.(13504-13506)tCc>tTc	p.S4502F	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4499F			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4499	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACTCCCTCCTCCAGTCCAGGG	0.642													T	1271606	C	T	1271606	3	4	295	1	0	0	0	0	1	0	0	0	10055	855	30	2	13627	2	MUC5B	11	1271606	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		1271606	133734910	33	20383											
INSC	387755	broad.mit.edu	37	chr11	15133995	15133995	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaaggagacttggagtcGctgcagccaaggctggagcc	9	7	15	10	1	0	1	0	0	0	1	1	4	0	3	2	4	3	4	2	4	2	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:15133995G>A	ENST00000379554.3	+	0	26					NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)						cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						ACTTGGAGTCGCTGCAGCCAA	0.622													A	15133995	G	A	15133995	1	1	295	1	0	0	0	0	0	0	0	0	7822	1102	38	1		1	INSC	11	15133995	Translation_Start_Site	SNP	G	TCGA-CS-6186-01A-12D-2024-08	13862389	15133995	119872521	34	20384											
OR5F1	338674	broad.mit.edu	37	chr11	55761801	55761801	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagataaagaagtacaTctgtaggaagcagccagcaa	17	5	12	7	0	1	2	0	0	1	2	1	4	1	3	1	2	4	4	1	2	7	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:55761801T>A	ENST00000278409.1	-	1	300	c.301A>T	c.(301-303)Atg>Ttg	p.M101L		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	101					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AAGAAGTACATCTGTAGGAAG	0.463													A	55761801	T	A	55761801	3	1	295	1	0	0	0	0	1	0	0	0	11234	1435	50	5	646	5	OR5F1	11	55761801	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	40627806	55761801	79244715	35	20385											
PDE2A	5138	broad.mit.edu	37	chr11	72289381	72289381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcctgttgcccatggccttCtcctgcaggcatcgagtcgt	4	11	12	14	2	1	0	0	0	1	0	4	1	1	0	4	3	2	3	4	3	0	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:72289381C>T	ENST00000334456.5	-	30	2756	c.2511G>A	c.(2509-2511)gaG>gaA	p.E837E	PDE2A_ENST00000544570.1_Silent_p.E830E|PDE2A_ENST00000418754.2_Silent_p.E722E|PDE2A_ENST00000376450.3_Silent_p.E581E|PDE2A_ENST00000444035.2_Silent_p.E828E|PDE2A_ENST00000540345.1_Silent_p.E828E	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	837	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CCATGGCCTTCTCCTGCAGGC	0.582													T	72289381	C	T	72289381	2	4	295	1	0	0	0	0	0	0	0	1	11712	912	32	2		2	PDE2A	11	72289381	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	16527580	72289381	62717135	36	20386											
OR2AT4	341152	broad.mit.edu	37	chr11	74800020	74800020	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaccagaaggtgggagcTgcaggtggagaaggcttttg	10	7	17	7	1	0	2	0	0	0	2	0	5	0	3	1	5	2	3	1	5	2	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr11:74800020T>A	ENST00000305159.3	-	1	779	c.739A>T	c.(739-741)Agc>Tgc	p.S247C		NM_001005285.1	NP_001005285.1	A6NND4	O2AT4_HUMAN	olfactory receptor, family 2, subfamily AT, member 4	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	12						AGGTGGGAGCTGCAGGTGGAG	0.567													A	74800020	T	A	74800020	3	1	295	1	0	0	0	0	1	0	0	0	11063	1580	55	5	226	5	OR2AT4	11	74800020	Missense_Mutation	SNP	T	TCGA-CS-6186-01A-12D-2024-08	2510639	74800020	60206496	37	20387											
ACSM4	341392	broad.mit.edu	37	chr12	7477158	7477158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccagcagttgttgaatcGgctgttgtcagtagtccaga	9	12	11	9	1	1	2	1	1	0	1	4	2	3	2	2	1	1	6	2	1	2	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:7477158G>A	ENST00000399422.4	+	11	1548	c.1500G>A	c.(1498-1500)tcG>tcA	p.S500S		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	500					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TTGTTGAATCGGCTGTTGTCA	0.428													A	7477158	G	A	7477158	2	1	295	1	0	0	0	0	0	0	0	1	186	1103	39	1		1	ACSM4	12	7477158	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08		7477158	126374737	38	20388											
GUCY2C	2984	broad.mit.edu	37	chr12	14809526	14809526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggaccattttttctgacGaagttcataatcttttctat	9	18	7	7	1	4	1	1	1	3	0	4	3	4	2	1	1	0	1	1	1	3	8			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:14809526G>A	ENST00000261170.3	-	12	1526	c.1390C>T	c.(1390-1392)Cgt>Tgt	p.R464C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	464			R -> L (in dbSNP:rs55684775).		intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTTTTCTGACGAAGTTCATAA	0.373													A	14809526	G	A	14809526	3	1	295	1	0	0	0	0	1	0	0	0	6951	1058	37	1	1895	1	GUCY2C	12	14809526	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	7332368	14809526	119042369	39	20389											
PKP2	5318	broad.mit.edu	37	chr12	33031888	33031888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttttaggaacaggggaaCggcctccaacaaaatcattt	14	9	10	8	1	1	0	1	0	0	0	2	2	2	2	2	5	3	1	2	5	6	3	rs149542398	byFrequency	TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr12:33031888C>T	ENST00000340811.4	-	2	410	c.302G>A	c.(301-303)cGt>cAt	p.R101H	PKP2_ENST00000070846.6_Missense_Mutation_p.R101H	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	101					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AACAGGGGAACGGCCTCCAAC	0.378													T	33031888	C	T	33031888	3	4	295	1	0	0	0	0	1	0	0	0	12062	536	19	1	2395	1	PKP2	12	33031888	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	18222362	33031888	100820007	40	20390											
ALG5	29880	broad.mit.edu	37	chr13	37569684	37569684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatttctcttcttcatgtCgatggagtgctggcattttt	7	18	9	7	1	3	1	1	0	2	1	5	3	3	2	0	2	1	2	0	2	1	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr13:37569684C>T	ENST00000239891.3	-	2	182	c.116G>A	c.(115-117)cGa>cAa	p.R39Q	ALG5_ENST00000443765.1_Missense_Mutation_p.R39Q|ALG5_ENST00000413537.2_Missense_Mutation_p.R39Q|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	39					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TTCTTCATGTCGATGGAGTGC	0.383													T	37569684	C	T	37569684	3	4	295	1	0	0	0	0	1	0	0	0	521	884	31	1	894	1	ALG5	13	37569684	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		37569684	77600194	41	20391											
PAK6	56924	broad.mit.edu	37	chr15	40558146	40558146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaacaccctgcgtggccGcagccccaccagccggcggc	6	3	11	21	4	0	0	0	0	0	0	1	0	1	0	7	3	4	1	7	3	1	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:40558146G>A	ENST00000455577.2	+	5	1220	c.308G>A	c.(307-309)cGc>cAc	p.R103H	PAK6_ENST00000453867.1_Missense_Mutation_p.R103H|PAK6_ENST00000560346.1_Missense_Mutation_p.R103H|PAK6_ENST00000441369.1_Missense_Mutation_p.R103H|PAK6_ENST00000542403.2_Missense_Mutation_p.R103H|PAK6_ENST00000260404.4_Missense_Mutation_p.R103H|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	103	Linker.		R -> C (in dbSNP:rs36081263).				ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CTGCGTGGCCGCAGCCCCACC	0.667													A	40558146	G	A	40558146	3	1	295	1	0	0	0	0	1	0	0	0	11480	1087	38	1	314	1	PAK6	15	40558146	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		40558146	61973246	42	20392											
ATP8B4	79895	broad.mit.edu	37	chr15	50223421	50223421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttatggtctctggggtccGggatttaaaaatgaacccaa	11	12	11	7	1	1	1	0	1	1	0	3	2	2	2	2	4	1	1	2	4	6	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:50223421G>A	ENST00000284509.6	-	16	1678	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R513W	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	513					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TCTGGGGTCCGGGATTTAAAA	0.398													A	50223421	G	A	50223421	3	1	295	1	0	0	0	0	1	0	0	0	1202	1115	39	1	2093	1	ATP8B4	15	50223421	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	9665275	50223421	52307971	43	20393											
MYO5A	4644	broad.mit.edu	37	chr15	52622646	52622646	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaatgttgactggtcGgatgggttcatcaatgatct	8	13	13	7	1	3	2	2	2	1	0	4	4	3	4	1	4	0	2	1	4	2	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:52622646G>A	ENST00000399231.3	-	34	4627	c.4384C>T	c.(4384-4386)Cga>Tga	p.R1462*	MYO5A_ENST00000553916.1_Nonsense_Mutation_p.R1460*|MYO5A_ENST00000399233.2_Nonsense_Mutation_p.R1459*|MYO5A_ENST00000358212.6_Nonsense_Mutation_p.R1487*|MYO5A_ENST00000356338.6_Nonsense_Mutation_p.R1435*	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity	p.R1462R(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TTGACTGGTCGGATGGGTTCA	0.413													A	52622646	G	A	52622646	4	1	295	1	0	0	0	0	0	1	0	0	10154	1124	39	1	1215	1	MYO5A	15	52622646	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	2399225	52622646	49908746	44	20394											
OR4F6	390648	broad.mit.edu	37	chr15	102346763	102346763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgcagttatcactcccGttttgaatccagtcatctat	9	16	6	10	1	3	2	2	2	1	0	5	2	5	2	2	0	1	3	2	0	3	5			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr15:102346763G>A	ENST00000328882.4	+	1	862	c.841G>A	c.(841-843)Gtt>Att	p.V281I		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TATCACTCCCGTTTTGAATCC	0.343													A	102346763	G	A	102346763	3	1	295	1	0	0	0	0	1	0	0	0	11142	1145	40	1	843	1	OR4F6	15	102346763	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	49724117	102346763	184629	45	20395											
SPNS1	83985	broad.mit.edu	37	chr16	28995597	28995597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggccgctccacccgcgtgCccgtggccagtgtgctcatc	3	7	14	17	4	1	0	1	0	0	0	3	0	2	0	5	3	2	2	5	3	0	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:28995597C>T	ENST00000311008.11	+	12	1941	c.1564C>T	c.(1564-1566)Ccc>Tcc	p.P522S	SPNS1_ENST00000352260.7_Missense_Mutation_p.P448S|SPNS1_ENST00000323081.8_Missense_Mutation_p.P449S|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000565975.1_Missense_Mutation_p.P567S|SPNS1_ENST00000334536.8_Missense_Mutation_p.P470S	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	522					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CACCCGCGTGCCCGTGGCCAG	0.697													T	28995597	C	T	28995597	3	4	295	1	0	0	0	0	1	0	0	0	15170	739	26	2	1610	2	SPNS1	16	28995597	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		28995597	61359156	46	20396											
CHST4	10164	broad.mit.edu	37	chr16	71570880	71570880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggatctgatacgggcCgtcttcttgtgcgacatgag	6	11	15	9	4	3	2	0	2	3	0	3	4	3	3	1	2	3	0	1	2	1	3	rs139260372		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr16:71570880C>T	ENST00000338482.5	+	3	643	c.300C>T	c.(298-300)gcC>gcT	p.A100A	ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000572450.1_Silent_p.A100A|CHST4_ENST00000539698.3_Silent_p.A100A			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	100					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						TGATACGGGCCGTCTTCTTGT	0.582													T	71570880	C	T	71570880	2	4	295	1	0	0	0	0	0	0	0	1	3436	639	23	1		1	CHST4	16	71570880	Silent	SNP	C	TCGA-CS-6186-01A-12D-2024-08	42575283	71570880	18783873	47	20397											
ACLY	47	broad.mit.edu	37	chr17	40040509	40040509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagcgtaacacatgatccatGaatgtggagcccgggtacct	11	9	11	10	2	0	2	0	2	0	0	1	3	1	3	3	2	4	2	3	2	4	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:40040509G>C	ENST00000352035.2	-	19	2221	c.2091C>G	c.(2089-2091)ttC>ttG	p.F697L	ACLY_ENST00000393896.2_Missense_Mutation_p.F687L|ACLY_ENST00000590151.1_Missense_Mutation_p.F697L|ACLY_ENST00000537919.1_Missense_Mutation_p.F426L|ACLY_ENST00000353196.1_Missense_Mutation_p.F687L	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	697					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				CATGATCCATGAATGTGGAGC	0.438													C	40040509	G	C	40040509	3	2	295	1	0	0	0	0	1	0	0	0	143	1281	45	4	1258	4	ACLY	17	40040509	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		40040509	41154701	48	20398											
HOXB5	3215	broad.mit.edu	37	chr17	46670842	46670842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgagctctcgcccaccGccccaaagtggctggaggag	7	4	14	16	5	1	0	0	0	1	0	2	3	1	2	4	3	1	2	4	3	1	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:46670842G>A	ENST00000239151.5	-	1	481	c.203C>T	c.(202-204)gCg>gTg	p.A68V	HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	68						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						CTCGCCCACCGCCCCAAAGTG	0.687													A	46670842	G	A	46670842	3	1	295	1	0	0	0	0	1	0	0	0	7359	1087	38	1	614	1	HOXB5	17	46670842	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	6630333	46670842	34524368	49	20399											
COL1A1	1277	broad.mit.edu	37	chr17	48270361	48270361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagatacttacgacagcGccagggggtccgggaacacc	12	4	14	11	3	0	1	0	0	0	1	1	4	1	2	3	4	4	0	3	4	4	2	rs72651616		TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48270361G>A	ENST00000225964.5	-	26	1933	c.1815C>T	c.(1813-1815)ggC>ggT	p.G605G		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	605	Triple-helical region.		G -> D (in OI2A).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding	p.G605G(1)	COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TTACGACAGCGCCAGGGGGTC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48270361	G	A	48270361	2	1	295	1	0	0	0	0	0	0	0	1	3708	1074	38	1		1	COL1A1	17	48270361	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	1599519	48270361	32924849	50	20400											
EPN3	55040	broad.mit.edu	37	chr17	48616618	48616618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggtccaccatcagcGggacagagagcctgagagag	10	4	16	11	2	1	3	1	1	0	2	2	6	2	4	4	3	2	0	4	3	0	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr17:48616618G>A	ENST00000268933.3	+	5	1412	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	EPN3_ENST00000541226.1_Missense_Mutation_p.R195Q|EPN3_ENST00000537145.1_Missense_Mutation_p.R306Q	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	278						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CACCATCAGCGGGACAGAGAG	0.597													A	48616618	G	A	48616618	3	1	295	1	0	0	0	0	1	0	0	0	5228	1116	39	1	847	1	EPN3	17	48616618	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	346257	48616618	32578592	51	20401											
MYH14	79784	broad.mit.edu	37	chr19	50750373	50750373	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaagcccagactaaGgaacaggtaggcggggctgg	12	4	17	8	1	0	2	0	0	0	2	0	3	0	3	1	6	3	3	1	6	4	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:50750373G>A	ENST00000440075.2	+	12	1370	c.1323G>A	c.(1321-1323)aaG>aaA	p.K441K	MYH14_ENST00000596571.1_Silent_p.K433K|MYH14_ENST00000262269.8_Silent_p.K441K|MYH14_ENST00000376970.2_Silent_p.K433K|MYH14_ENST00000601313.1_Silent_p.K441K|MYH14_ENST00000598205.1_Silent_p.K441K|MYH14_ENST00000425460.1_Silent_p.K441K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	433	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CCCAGACTAAGGAACAGGTAG	0.597													A	50750373	G	A	50750373	2	1	295	1	0	0	0	0	0	0	0	1	10109	991	35	2		2	MYH14	19	50750373	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08		50750373	8378610	52	20402											
NLRP9	338321	broad.mit.edu	37	chr19	56244617	56244617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtaagctggtctctgCgataccgttcatttcacaga	9	12	8	12	2	3	1	2	0	1	1	5	2	4	1	2	1	3	3	2	1	2	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr19:56244617C>T	ENST00000332836.2	-	2	607	c.580G>A	c.(580-582)Gca>Aca	p.A194T		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	194	NACHT.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CTGGTCTCTGCGATACCGTTC	0.453													T	56244617	C	T	56244617	3	4	295	1	0	0	0	0	1	0	0	0	10560	768	27	1	2427	1	NLRP9	19	56244617	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	5494244	56244617	2884366	53	20403											
SLC23A2	9962	broad.mit.edu	37	chr20	4850643	4850643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgatgctggcgaccaCggcactgagcatgccgatga	9	7	13	12	4	0	3	0	3	0	0	1	6	0	3	2	2	3	3	2	2	0	0			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:4850643C>T	ENST00000379333.1	-	12	1551	c.1159G>A	c.(1159-1161)Gtg>Atg	p.V387M	SLC23A2_ENST00000338244.1_Missense_Mutation_p.V387M|SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Missense_Mutation_p.V273M	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	387					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGGCGACCACGGCACTGAGC	0.602													T	4850643	C	T	4850643	3	4	295	1	0	0	0	0	1	0	0	0	14557	536	19	1	817	1	SLC23A2	20	4850643	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08		4850643	58174877	54	20404											
SEC23B	10483	broad.mit.edu	37	chr20	18516372	18516372	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacttggcatctattttGaagttgtcaatcaggtgagt	10	15	9	7	0	3	2	2	2	1	0	3	2	3	2	0	2	1	2	0	2	4	6			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:18516372G>T	ENST00000336714.3	+	12	1822	c.1390G>T	c.(1390-1392)Gaa>Taa	p.E464*	SEC23B_ENST00000377475.3_Nonsense_Mutation_p.E464*|SEC23B_ENST00000377465.1_Nonsense_Mutation_p.E464*|SEC23B_ENST00000262544.2_Nonsense_Mutation_p.E464*	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	464					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						CATCTATTTTGAAGTTGTCAA	0.433													T	18516372	G	T	18516372	4	4	295	1	0	0	0	0	0	1	0	0	14085	1291	45	4	1432	4	SEC23B	20	18516372	Nonsense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08	13665729	18516372	44509148	55	20405											
VSX1	30813	broad.mit.edu	37	chr20	25057044	25057044	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcttccaagccattctcAgggctcactttatctgagcc	9	12	6	14	0	4	1	2	1	3	0	6	1	5	1	3	1	2	1	3	1	2	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr20:25057044A>C	ENST00000376709.4	-	5	1214	c.951T>G	c.(949-951)ccT>ccG	p.P317P	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000451258.1_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000424574.1_Intron	NM_014588.5	NP_055403.2	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	317					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						AGCCATTCTCAGGGCTCACTT	0.542													C	25057044	A	C	25057044	2	2	295	1	0	0	0	0	0	0	0	1	17333	175	7	5		5	VSX1	20	25057044	Silent	SNP	A	TCGA-CS-6186-01A-12D-2024-08	6540672	25057044	37968476	56	20406											
TUBA8	51807	broad.mit.edu	37	chr22	18604328	18604328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcttctgcctggaacacgGcatccaggcagacggcactt	8	8	11	14	2	2	1	0	0	2	1	3	2	3	2	2	4	2	4	2	4	1	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chr22:18604328G>A	ENST00000330423.3	+	2	159	c.86G>A	c.(85-87)gGc>gAc	p.G29D	TUBA8_ENST00000316027.6_5'UTR	NM_018943.2	NP_061816.1	Q9NY65	TBA8_HUMAN	tubulin, alpha 8	29					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	14						CTGGAACACGGCATCCAGGCA	0.552													A	18604328	G	A	18604328	3	1	295	1	0	0	0	0	1	0	0	0	16852	1203	42	2	92	2	TUBA8	22	18604328	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		18604328	32700238	57	20407											
FAM47B	170062	broad.mit.edu	37	chrX	34961315	34961315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttcgtagaggaagtggaaGcccagctgatgaccaagcat	12	7	13	9	2	0	3	0	2	0	1	1	5	0	5	2	2	3	4	2	2	4	2			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:34961315G>T	ENST00000329357.5	+	1	403	c.367G>T	c.(367-369)Gcc>Tcc	p.A123S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	123										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GGAAGTGGAAGCCCAGCTGAT	0.537													T	34961315	G	T	34961315	3	4	295	1	0	0	0	0	1	0	0	0	5621	971	34	4	369	4	FAM47B	23	34961315	Missense_Mutation	SNP	G	TCGA-CS-6186-01A-12D-2024-08		34961315	120309245	58	20408											
MAGEB16	139604	broad.mit.edu	37	chrX	35820491	35820491	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctgctaaggcagagAgtcctcttgaggttcctcag	7	11	11	12	0	2	2	1	1	1	1	5	3	5	2	3	2	2	4	3	2	1	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:35820491A>T	ENST00000399989.1	+	2	457	c.178A>T	c.(178-180)Agt>Tgt	p.S60C	MAGEB16_ENST00000399987.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399985.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399988.1_Missense_Mutation_p.S60C|MAGEB16_ENST00000399992.1_Missense_Mutation_p.S92C	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	60										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TAAGGCAGAGAGTCCTCTTGA	0.532													T	35820491	A	T	35820491	3	4	295	1	0	0	0	0	1	0	0	0	9249	304	11	5	180	5	MAGEB16	23	35820491	Missense_Mutation	SNP	A	TCGA-CS-6186-01A-12D-2024-08	859176	35820491	119450069	59	20409											
DDX26B	203522	broad.mit.edu	37	chrX	134706886	134706886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctattgaaagaaatcacaggGgaaactgcacttagactgac	16	8	9	8	0	1	4	1	2	0	2	1	5	1	5	0	2	2	1	0	2	5	3			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:134706886G>T	ENST00000370752.4	+	11	1768	c.1434G>T	c.(1432-1434)ggG>ggT	p.G478G	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	478										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AAATCACAGGGGAAACTGCAC	0.353													T	134706886	G	T	134706886	2	4	295	1	0	0	0	0	0	0	0	1	4387	1219	43	4		4	DDX26B	23	134706886	Silent	SNP	G	TCGA-CS-6186-01A-12D-2024-08	98886395	134706886	20563674	60	20410											
SPANXN2	494119	broad.mit.edu	37	chrX	142795437	142795437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcctcctcctcttggaCgggattgatggagttctctc	4	15	10	12	2	2	1	0	1	2	0	8	4	5	4	3	3	0	1	3	3	0	4			TCGA-CS-6186-01A-12D-2024-08	TCGA-CS-6186-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	91b92f9a-17de-4940-98ba-3c772a83371a	111cd7bb-0da5-485d-9b1f-978a60a29b94	g.chrX:142795437C>T	ENST00000370498.1	-	2	994	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	81								p.R90R(1)|p.V81F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTTGGACGGGATTGATG	0.453													T	142795437	C	T	142795437	3	4	295	1	0	0	0	0	1	0	0	0	15087	536	19	1	305	1	SPANXN2	23	142795437	Missense_Mutation	SNP	C	TCGA-CS-6186-01A-12D-2024-08	8088551	142795437	12475123	61	20411											
CDK11B	984	broad.mit.edu	37	chr1	1588852	1588852	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgttttatctctgctttCtcctcttgttccttccttcg	3	20	5	13	2	3	0	0	0	3	0	8	0	5	0	3	0	2	3	3	0	2	7			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:1588852C>G	ENST00000407249.3	-	1	83	c.84G>C	c.(82-84)gaG>gaC	p.E28D	CDK11B_ENST00000317673.7_Missense_Mutation_p.E28D|CDK11B_ENST00000340677.5_Missense_Mutation_p.E28D			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	28					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TCTCTGCTTTCTCCTCTTGTT	0.328													G	1588852	C	G	1588852	3	3	296	1	0	0	0	0	1	0	0	0	3157	928	32	4		4	CDK11B	1	1588852	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		1588852	247661769	1	20412											
NOTCH2	4853	broad.mit.edu	37	chr1	120502127	120502127	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatttcacaattaaccccTggaagagaaaacccaacgga	17	8	6	10	1	1	1	1	0	0	1	1	4	1	3	3	2	3	0	3	2	7	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:120502127T>C	ENST00000256646.2	-	12	2135		c.e12-2			NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2						anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTAACCCCTGGAAGAGAAA	0.403			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				C	120502127	T	C	120502127	5	2	296	1	0	0	0	0	0	0	1	0	10624	1594	55	3	5593	3	NOTCH2	1	120502127	Splice_Site	SNP	T	TCGA-CS-6188-01A-11D-1893-08	118913275	120502127	128748494	2	20413											
NUP210L	91181	broad.mit.edu	37	chr1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctggatgatttccaattCggaatgtgagaacctttaag	12	12	9	8	1	0	2	0	2	0	1	2	5	1	4	3	2	1	0	3	2	4	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423													T	154062057	C	T	154062057	3	4	296	1	0	0	0	0	1	0	0	0	10837	884	31	1	3565	1	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	33559930	154062057	95188564	3	20414											
OR2T8	343172	broad.mit.edu	37	chr1	248084419	248084419	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatggttctgagtatcgttTtgacctccctgtttggcaat	6	17	10	8	1	1	3	0	3	1	0	3	3	2	3	2	2	0	5	2	2	2	5			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:248084419T>C	ENST00000319968.4	+	1	100	c.100T>C	c.(100-102)Ttg>Ctg	p.L34L		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GAGTATCGTTTTGACCTCCCT	0.488													C	248084419	T	C	248084419	2	2	296	1	0	0	0	0	0	0	0	1	11106	1838	64	3		3	OR2T8	1	248084419	Silent	SNP	T	TCGA-CS-6188-01A-11D-1893-08	94022362	248084419	1166202	4	20415											
OR2L8	391190	broad.mit.edu	37	chr1	248112252	248112252	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcttcattctcattgtTttcattttcctgatggctct	4	23	4	10	0	6	1	3	1	4	0	8	1	7	1	1	1	0	2	1	1	0	9			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr1:248112252T>C	ENST00000357191.3	+	1	93	c.93T>C	c.(91-93)gtT>gtC	p.V31V	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			TTCTCATTGTTTTCATTTTCC	0.393													C	248112252	T	C	248112252	2	2	296	1	0	0	0	0	0	0	0	1	11085	1828	64	3		3	OR2L8	1	248112252	Silent	SNP	T	TCGA-CS-6188-01A-11D-1893-08	27833	248112252	1138369	5	20416											
HJURP	55355	broad.mit.edu	37	chr2	234750376	234750376	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttccaattttaaacctgtCttacggcaagaaacatctaa	14	14	4	9	1	2	1	0	0	2	1	3	1	3	1	2	1	3	1	2	1	7	6			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr2:234750376C>G	ENST00000411486.2	-	8	1115	c.1050G>C	c.(1048-1050)aaG>aaC	p.K350N	HJURP_ENST00000441687.1_Missense_Mutation_p.K265N|HJURP_ENST00000432087.1_Missense_Mutation_p.K296N	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	350					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		TTAAACCTGTCTTACGGCAAG	0.443													G	234750376	C	G	234750376	3	3	296	1	0	0	0	0	1	0	0	0	7244	912	32	4	1204	4	HJURP	2	234750376	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		234750376	8448997	6	20417											
HPS3	84343	broad.mit.edu	37	chr3	148884979	148884979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactgttagagagatgcccGgaggcagtcattccatatgc	11	10	11	9	1	1	2	1	0	0	2	2	4	2	3	2	2	3	2	2	2	3	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr3:148884979G>A	ENST00000296051.2	+	15	2888	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	HPS3_ENST00000460120.1_Silent_p.P751P	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	916						cytoplasm				breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AGAGATGCCCGGAGGCAGTCA	0.423									Hermansky-Pudlak syndrome				A	148884979	G	A	148884979	2	1	296	1	0	0	0	0	0	0	0	1	7395	1103	39	1		1	HPS3	3	148884979	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		148884979	49137451	7	20418											
TRA2B	6434	broad.mit.edu	37	chr3	185639892	185639892	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctacgcccatcaagctccAttccattggcacgttcttta	8	13	5	15	2	2	0	1	0	1	0	5	0	5	0	4	1	2	3	4	1	3	6			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr3:185639892A>C	ENST00000453386.2	-	5	820	c.545T>G	c.(544-546)aTg>aGg	p.M182R	TRA2B_ENST00000382191.4_Missense_Mutation_p.M82R	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	182	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ATCAAGCTCCATTCCATTGGC	0.408													C	185639892	A	C	185639892	3	2	296	1	0	0	0	0	1	0	0	0	16535	217	8	5	341	5	TRA2B	3	185639892	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	36754913	185639892	12382538	8	20419											
NCAPG	64151	broad.mit.edu	37	chr4	17843981	17843981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaacaggaggtgtcagaCtgctgaagccgactctgaaa	13	6	13	9	2	2	3	1	2	1	1	2	7	2	4	1	2	3	1	1	2	3	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr4:17843981C>T	ENST00000251496.2	+	20	3079	c.2903C>T	c.(2902-2904)aCt>aTt	p.T968I	LCORL_ENST00000326877.4_3'UTR	NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	968					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		AGGTGTCAGACTGCTGAAGCC	0.353													T	17843981	C	T	17843981	3	4	296	1	0	0	0	0	1	0	0	0	10283	565	20	2	2981	2	NCAPG	4	17843981	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		17843981	173310295	9	20420											
ADAMTS12	81792	broad.mit.edu	37	chr5	33648939	33648939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacttacttctacttcctgGcagaaggtagcattgggtcc	9	12	9	11	0	1	1	0	0	1	1	3	1	3	1	2	3	3	3	2	3	4	6			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:33648939G>A	ENST00000504830.1	-	9	1802	c.1467C>T	c.(1465-1467)tgC>tgT	p.C489C	ADAMTS12_ENST00000352040.3_Silent_p.C489C|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	489	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CTACTTCCTGGCAGAAGGTAG	0.473										HNSCC(64;0.19)			A	33648939	G	A	33648939	2	1	296	1	0	0	0	0	0	0	0	1	257	1195	42	2		2	ADAMTS12	5	33648939	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		33648939	147266321	10	20421											
PIK3R1	5295	broad.mit.edu	37	chr5	67589632	67589634	+	In_Frame_Del	DEL	ATT	ATT	-																															aaaagtcgagaatatgatagAttatatgaagaatatacccg																										TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:67589632_67589634delATT	ENST00000521381.1	+	11	2011_2013	c.1395_1397delATT	c.(1393-1398)agatta>aga	p.L466del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.L466del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.L466del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.L103del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.L166del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.L196del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.L466del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	466					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.Y463_L466del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATATGATAGATTATATGAAGAA	0.291			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589634	ATT	-	67589632	7	5	296	1	0	1	0	1	0	0	0	0	11995	330	12	0	1563	0	PIK3R1	5	67589632	In_Frame_Del	DEL	ATT	TCGA-CS-6188-01A-11D-1893-08	33940693	67589632	113325628	11	20422											
SHROOM1	134549	broad.mit.edu	37	chr5	132159379	132159379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatggctggtcaagcacaGggtgggtggcagggttttca	8	9	16	8	0	2	0	2	0	0	0	2	0	2	0	0	6	1	4	0	6	1	2			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:132159379G>A	ENST00000378679.3	-	8	2693	c.1889C>T	c.(1888-1890)cCt>cTt	p.P630L	SHROOM1_ENST00000319854.3_Missense_Mutation_p.P630L|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000378676.1_Missense_Mutation_p.P561L	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	630	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTCAAGCACAGGGTGGGTGGC	0.612													A	132159379	G	A	132159379	3	1	296	1	0	0	0	0	1	0	0	0	14387	1000	35	2	681	2	SHROOM1	5	132159379	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	64569747	132159379	48755881	12	20423											
PCDHA4	56144	broad.mit.edu	37	chr5	140188796	140188796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtggagagtggacaggCgccaaaggcctcctcacggg	9	6	15	11	2	1	1	1	0	0	1	2	3	2	2	3	5	0	0	3	5	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:140188796C>T	ENST00000530339.1	+	1	2024	c.2024C>T	c.(2023-2025)gCg>gTg	p.A675V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000356878.4_Missense_Mutation_p.A675V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Missense_Mutation_p.A675V|PCDHA1_ENST00000504120.2_Intron	NM_018907.2	NP_061730.1														breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(6)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGGACAGGCGCCAAAGGCC	0.657													T	140188796	C	T	140188796	3	4	296	1	0	0	0	0	1	0	0	0	11602	768	27	1	2026	1	PCDHA4	5	140188796	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	8029417	140188796	40726464	13	20424											
SLC36A2	153201	broad.mit.edu	37	chr5	150704990	150704990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtggcgggcattcttCatcttgttttccagaggcag	7	12	14	8	1	3	1	1	0	2	1	4	2	4	2	1	4	0	3	1	4	1	5			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:150704990C>A	ENST00000335244.4	-	8	996	c.867G>T	c.(865-867)atG>atT	p.M289I	SLC36A2_ENST00000450886.1_Missense_Mutation_p.M13I|SLC36A2_ENST00000521967.1_Missense_Mutation_p.M289I	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	289					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGCATTCTTCATCTTGTTTT	0.468													A	150704990	C	A	150704990	3	1	296	1	0	0	0	0	1	0	0	0	14688	826	29	4	596	4	SLC36A2	5	150704990	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	10516194	150704990	30210270	14	20425											
FAT2	2196	broad.mit.edu	37	chr5	150922417	150922417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacaatttggtggattcGtggtccatgggcttcctcac	6	14	12	9	1	1	0	1	0	0	0	4	1	3	1	2	5	1	2	2	5	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:150922417G>A	ENST00000261800.5	-	9	8283	c.8271C>T	c.(8269-8271)caC>caT	p.H2757H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2757	Cadherin 24.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGTGGATTCGTGGTCCATGG	0.512													A	150922417	G	A	150922417	2	1	296	1	0	0	0	0	0	0	0	1	5739	1136	40	1		1	FAT2	5	150922417	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	217427	150922417	29992843	15	20426											
ATP10B	23120	broad.mit.edu	37	chr5	160047525	160047525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggtgccctggggcaggcGcacagtcacctgctcaggtg	6	6	16	13	1	2	0	2	0	0	0	2	0	2	0	2	5	2	4	2	5	0	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr5:160047525G>A	ENST00000327245.5	-	15	3091	c.2245C>T	c.(2245-2247)Cgc>Tgc	p.R749C	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	749					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGGGCAGGCGCACAGTCACC	0.617													A	160047525	G	A	160047525	3	1	296	1	0	0	0	0	1	0	0	0	1122	1087	38	1	2188	1	ATP10B	5	160047525	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	9125108	160047525	20867735	16	20427											
DSP	1832	broad.mit.edu	37	chr6	7571618	7571618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctgtctcctttcagctGaaaacaatgcggcaggaaga	11	9	10	11	1	2	2	1	1	1	1	3	3	2	3	2	2	4	2	2	2	4	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:7571618G>A	ENST00000379802.3	+	14	2045	c.1704G>A	c.(1702-1704)ctG>ctA	p.L568L	DSP_ENST00000418664.2_Silent_p.L568L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	568	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CCTTTCAGCTGAAAACAATGC	0.453													A	7571618	G	A	7571618	2	1	296	1	0	0	0	0	0	0	0	1	4820	1277	45	2		2	DSP	6	7571618	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		7571618	163543449	17	20428											
DSP	1832	broad.mit.edu	37	chr6	7571689	7571689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattaccaagagttcatcaGaaatagccaaggctcagaga	17	7	8	9	0	3	3	3	0	0	3	3	4	3	3	2	1	2	2	2	1	5	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:7571689G>A	ENST00000379802.3	+	14	2116	c.1775G>A	c.(1774-1776)aGa>aAa	p.R592K	DSP_ENST00000418664.2_Missense_Mutation_p.R592K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	592	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTTCATCAGAAATAGCCAA	0.453													A	7571689	G	A	7571689	3	1	296	1	0	0	0	0	1	0	0	0	4820	942	33	2	1829	2	DSP	6	7571689	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	71	7571689	163543378	18	20429											
HLA-F	3134	broad.mit.edu	37	chr6	29693049	29693049	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgccatgtgcagcaCgaggggctgccccagcccct	8	6	11	16	1	0	0	0	0	0	0	0	1	0	0	5	2	6	3	5	2	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:29693049C>T	ENST00000440587.2	+	4	857	c.498C>T	c.(496-498)caC>caT	p.H166H	HLA-F_ENST00000259951.7_Silent_p.H284H|HLA-F_ENST00000376861.1_Silent_p.H284H|HLA-F_ENST00000334668.4_Silent_p.H284H|HLA-F_ENST00000434407.2_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	284	Alpha-2.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						ATGTGCAGCACGAGGGGCTGC	0.597													T	29693049	C	T	29693049	2	4	296	1	0	0	0	0	0	0	0	1	7266	535	19	1		1	HLA-F	6	29693049	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	22121360	29693049	141422018	19	20430											
CRISP3	10321	broad.mit.edu	37	chr6	49701500	49701500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tactcatcaaaccagctttgGattgcttgtgaccatgagct	10	13	8	10	0	2	2	2	2	0	0	2	3	2	3	2	1	5	3	2	1	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:49701500G>C	ENST00000433368.2	-	5	477	c.408C>G	c.(406-408)atC>atG	p.I136M	CRISP3_ENST00000263045.4_Missense_Mutation_p.I126M|CRISP3_ENST00000393666.1_Missense_Mutation_p.I113M|CRISP3_ENST00000371159.4_Missense_Mutation_p.I144M|CRISP3_ENST00000423399.2_Missense_Mutation_p.I23M	NM_001190986.1	NP_001177915.1	P54108	CRIS3_HUMAN	cysteine-rich secretory protein 3	113					innate immune response	proteinaceous extracellular matrix|specific granule				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|skin(6)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			ACCAGCTTTGGATTGCTTGTG	0.433													C	49701500	G	C	49701500	3	2	296	1	0	0	0	0	1	0	0	0	3912	1164	41	4	414	4	CRISP3	6	49701500	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	20008451	49701500	121413567	20	20431											
BAI3	577	broad.mit.edu	37	chr6	70048901	70048901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagccaccaccgccagtaaCgccatgttagtcccaatcat	11	8	6	16	2	2	0	2	0	0	0	3	0	3	0	6	0	2	2	6	0	3	2	rs138734026		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:70048901C>T	ENST00000370598.1	+	25	4103	c.3282C>T	c.(3280-3282)aaC>aaT	p.N1094N	BAI3_ENST00000238918.8_Silent_p.N300N|BAI3_ENST00000546190.1_Silent_p.N58N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1094					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				CCGCCAGTAACGCCATGTTAG	0.398													T	70048901	C	T	70048901	2	4	296	1	0	0	0	0	0	0	0	1	1305	535	19	1		1	BAI3	6	70048901	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	20347401	70048901	101066166	21	20432											
LACE1	246269	broad.mit.edu	37	chr6	108768486	108768486	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaacttcctgctgcaggaAaactctactacctgtaagtg	11	10	10	10	0	1	0	0	0	1	0	2	2	2	2	2	2	6	3	2	2	6	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:108768486A>G	ENST00000368977.4	+	8	1063	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	293							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGCTGCAGGAAAACTCTACTA	0.328													G	108768486	A	G	108768486	3	3	296	1	0	0	0	0	1	0	0	0	8654	15	1	3	907	3	LACE1	6	108768486	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	38719585	108768486	62346581	22	20433											
CDC40	51362	broad.mit.edu	37	chr6	110533410	110533410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtgttaatctacggtcaActatgccacctgagaagtgt	10	13	10	8	1	2	1	1	1	1	1	2	2	2	1	2	2	3	1	2	2	5	4	rs147439944	byFrequency	TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr6:110533410A>G	ENST00000368932.1	+	8	903	c.802A>G	c.(802-804)Act>Gct	p.T268A	CDC40_ENST00000368930.1_Missense_Mutation_p.T268A|CDC40_ENST00000307731.1_Missense_Mutation_p.T268A			O60508	PRP17_HUMAN	cell division cycle 40	268					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TCTACGGTCAACTATGCCACC	0.383													G	110533410	A	G	110533410	3	3	296	1	0	0	0	0	1	0	0	0	3100	43	2	3	828	3	CDC40	6	110533410	Missense_Mutation	SNP	A	TCGA-CS-6188-01A-11D-1893-08	1764924	110533410	60581657	23	20434											
COL1A2	1278	broad.mit.edu	37	chr7	94043557	94043557	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctggcccctcaggtccCgctggtgaagttggcaaacc	6	8	12	15	1	1	1	1	1	0	0	2	1	2	1	5	4	2	3	5	4	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:94043557C>T	ENST00000297268.6	+	29	2160	c.1689C>T	c.(1687-1689)ccC>ccT	p.P563P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	563					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTCAGGTCCCGCTGGTGAAG	0.428										HNSCC(75;0.22)			T	94043557	C	T	94043557	2	4	296	1	0	0	0	0	0	0	0	1	3709	639	23	1		1	COL1A2	7	94043557	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		94043557	65095106	24	20435											
LRRC17	10234	broad.mit.edu	37	chr7	102574365	102574365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggatgtcaggatgcGtgtggttaccattgtaatct	8	13	12	8	1	2	0	1	0	1	0	2	2	2	2	2	3	3	3	2	3	2	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:102574365G>A	ENST00000249377.4	+	2	286	c.5G>A	c.(4-6)cGt>cAt	p.R2H	LRRC17_ENST00000339431.4_Missense_Mutation_p.R2H|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000313221.4_Intron	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	2					bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GTCAGGATGCGTGTGGTTACC	0.493													A	102574365	G	A	102574365	3	1	296	1	0	0	0	0	1	0	0	0	9043	1145	40	1	7	1	LRRC17	7	102574365	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	8530808	102574365	56564298	25	20436											
RELN	5649	broad.mit.edu	37	chr7	103338477	103338477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccactgaaattggacattCtcccctttggcgtcctcagg	7	13	8	13	1	2	1	1	1	1	0	5	2	4	2	4	3	0	0	4	3	1	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr7:103338477C>T	ENST00000424685.2	-	10	1125	c.966G>A	c.(964-966)gaG>gaA	p.E322E	RELN_ENST00000343529.5_Silent_p.E322E|RELN_ENST00000428762.1_Silent_p.E322E			P78509	RELN_HUMAN	reelin	322					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGGACATTCTCCCCTTTGG	0.458													T	103338477	C	T	103338477	2	4	296	1	0	0	0	0	0	0	0	1	13308	912	32	2		2	RELN	7	103338477	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08	764112	103338477	55800186	26	20437											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729419	37729419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctattctttcatcatcCgatgcgacttcaggaatgga	10	14	8	9	2	5	1	3	1	2	0	6	5	6	3	1	2	1	0	1	2	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:37729419C>T	ENST00000330843.4	-	4	2913	c.2901G>A	c.(2899-2901)tcG>tcA	p.S967S	RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	967					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TTTCATCATCCGATGCGACTT	0.453													T	37729419	C	T	37729419	2	4	296	1	0	0	0	0	0	0	0	1	12981	639	23	1		1	RAB11FIP1	8	37729419	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		37729419	108634603	27	20438											
PCMTD1	115294	broad.mit.edu	37	chr8	52733191	52733191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctttgaggaatccccttgGcctgcatctcatcatttatg	7	14	7	13	0	2	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:52733191G>T	ENST00000360540.5	-	7	1200	c.794C>A	c.(793-795)gCc>gAc	p.A265D	PCMTD1_ENST00000522514.1_Missense_Mutation_p.A265D|PCMTD1_ENST00000544451.1_Missense_Mutation_p.A189D|PCMTD1_ENST00000519559.1_5'UTR	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	265						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				AATCCCCTTGGCCTGCATCTC	0.413													T	52733191	G	T	52733191	3	4	296	1	0	0	0	0	1	0	0	0	11662	1203	42	4	283	4	PCMTD1	8	52733191	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	15003772	52733191	93630831	28	20439											
SOX17	64321	broad.mit.edu	37	chr8	55372202	55372202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccttcacgtgtactacGgcgcgatgggctcgcccggg	4	7	15	15	7	1	0	1	0	0	0	2	1	1	0	2	3	2	2	2	3	2	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:55372202G>A	ENST00000297316.4	+	2	1096	c.892G>A	c.(892-894)Ggc>Agc	p.G298S		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	298	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			CGTGTACTACGGCGCGATGGG	0.766													A	55372202	G	A	55372202	3	1	296	1	0	0	0	0	1	0	0	0	15041	1116	39	1	898	1	SOX17	8	55372202	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	2639011	55372202	90991820	29	20440											
FAM135B	51059	broad.mit.edu	37	chr8	139158292	139158292	+	Splice_Site	DEL	C	C	-																															agccggaggtctgcactgttCcctaaaaatgacagataacc																										TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:139158292delC	ENST00000395297.1	-	15	3620	c.3450delG	c.(3448-3450)ggg>gg	p.G1150fs		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1150										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CTGCACTGTTCCCTAAAAATG	0.448										HNSCC(54;0.14)			-	139158292	C	-	139158292	8	5	296	1	0	1	0	1	0	0	1	0	5494	869	30	0	794	0	FAM135B	8	139158292	Splice_Site	DEL	C	TCGA-CS-6188-01A-11D-1893-08	83786090	139158292	7205730	30	20441											
EPPK1	83481	broad.mit.edu	37	chr8	144942253	144942253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagaagcccttggtgtcGtcgctggggtccgccaggat	6	9	15	11	4	0	1	0	0	0	1	4	3	1	2	3	4	1	1	3	4	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr8:144942253G>A	ENST00000525985.1	-	2	5240	c.5169C>T	c.(5167-5169)gaC>gaT	p.D1723D				P58107	EPIPL_HUMAN	epiplakin 1	1723						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTTGGTGTCGTCGCTGGGGT	0.657													A	144942253	G	A	144942253	2	1	296	1	0	0	0	0	0	0	0	1	5231	1136	40	1		1	EPPK1	8	144942253	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	5783961	144942253	1421769	31	20442											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112900626	112900626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccactcaagaatctgaCgtgatggttgggcctttcaa	9	11	11	10	1	3	3	2	2	1	1	3	3	3	3	2	3	0	1	2	3	3	2			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr9:112900626C>T	ENST00000374530.3	+	8	2982	c.2802C>T	c.(2800-2802)gaC>gaT	p.D934D	AKAP2_ENST00000434623.2_Silent_p.D792D|AKAP2_ENST00000555236.1_Silent_p.D934D|PALM2-AKAP2_ENST00000302798.7_Silent_p.D934D|AKAP2_ENST00000510514.5_Silent_p.D934D|AKAP2_ENST00000259318.7_Silent_p.D703D|AKAP2_ENST00000482335.1_3'UTR|AKAP2_ENST00000374525.1_Silent_p.D792D	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		703							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AAGAATCTGACGTGATGGTTG	0.547													T	112900626	C	T	112900626	2	4	296	1	0	0	0	0	0	0	0	1	11486	535	19	1		1	PALM2-AKAP2	9	112900626	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		112900626	28312805	32	20443											
OLFM1	10439	broad.mit.edu	37	chr9	137998621	137998621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaagttgacgggcatcagtGaccccgtgactgtcaagacc	10	7	13	11	2	2	4	2	3	0	1	2	5	2	5	3	2	0	2	3	2	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr9:137998621G>A	ENST00000252854.4	+	5	836	c.649G>A	c.(649-651)Gac>Aac	p.D217N	OLFM1_ENST00000371793.3_Missense_Mutation_p.D235N|OLFM1_ENST00000371796.3_Missense_Mutation_p.D208N	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	235					nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		GGGCATCAGTGACCCCGTGAC	0.637													A	137998621	G	A	137998621	3	1	296	1	0	0	0	0	1	0	0	0	10928	1290	45	2	677	2	OLFM1	9	137998621	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	25097995	137998621	3214810	33	20444											
KIF20B	9585	broad.mit.edu	37	chr10	91498265	91498265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatttaaatgtaaaggaaCtcaagctgaaagaagaaatc	21	8	8	4	0	1	4	1	1	0	3	2	5	1	5	0	1	2	2	0	1	10	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr10:91498265C>T	ENST00000416354.1	+	20	3829	c.3757C>T	c.(3757-3759)Ctc>Ttc	p.L1253F	KIF20B_ENST00000260753.4_Missense_Mutation_p.L1183F|KIF20B_ENST00000371728.3_Missense_Mutation_p.L1223F|KIF20B_ENST00000394289.2_Missense_Mutation_p.L1223F|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1223					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						TGTAAAGGAACTCAAGCTGAA	0.299													T	91498265	C	T	91498265	3	4	296	1	0	0	0	0	1	0	0	0	8345	565	20	2	3621	2	KIF20B	10	91498265	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		91498265	44036482	34	20445											
CABP2	51475	broad.mit.edu	37	chr11	67287316	67287316	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtcctggaggatctcGtccacctcccgctggctgag	5	9	11	16	3	1	1	0	1	1	0	6	3	5	3	5	3	0	2	5	3	0	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:67287316G>A	ENST00000294288.4	-	6	654	c.585C>T	c.(583-585)gaC>gaT	p.D195D	CABP2_ENST00000353903.5_Silent_p.D138D	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	195	EF-hand 4.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						GGAGGATCTCGTCCACCTCCC	0.667													A	67287316	G	A	67287316	2	1	296	1	0	0	0	0	0	0	0	1	2558	1136	40	1		1	CABP2	11	67287316	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08		67287316	67719200	35	20446											
C11orf53	341032	broad.mit.edu	37	chr11	111154951	111154951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcagggcagagccatgCggctctcctggagccctact	6	7	12	16	2	1	1	0	0	1	1	3	2	2	2	4	3	4	3	4	3	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:111154951C>T	ENST00000280325.4	+	3	305	c.158C>T	c.(157-159)gCg>gTg	p.A53V		NM_198498.1	NP_940900.1	Q8IXP5	CK053_HUMAN	chromosome 11 open reading frame 53	53										endometrium(1)|large_intestine(2)|lung(3)|skin(2)	8		all_cancers(61;2.05e-09)|Melanoma(852;4.04e-05)|all_epithelial(67;6.15e-05)|all_hematologic(158;0.000826)|Acute lymphoblastic leukemia(157;0.000966)|all_neural(223;0.0332)|Medulloblastoma(222;0.0425)|Breast(348;0.147)		Epithelial(105;1.7e-06)|BRCA - Breast invasive adenocarcinoma(274;3.16e-06)|all cancers(92;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0507)		CAGAGCCATGCGGCTCTCCTG	0.622													T	111154951	C	T	111154951	3	4	296	1	0	0	0	0	1	0	0	0	1660	768	27	1	164	1	C11orf53	11	111154951	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	43867635	111154951	23851565	36	20447											
VPS11	55823	broad.mit.edu	37	chr11	118941054	118941054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaactggattggcctttCgccaagcaggaaagaccact	11	9	10	11	1	0	1	0	0	0	1	1	3	0	3	3	3	2	2	3	3	3	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr11:118941054C>T	ENST00000300793.6	+	5	622	c.580C>T	c.(580-582)Cgc>Tgc	p.R194C	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	195					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		ATTGGCCTTTCGCCAAGCAGG	0.517													T	118941054	C	T	118941054	3	4	296	1	0	0	0	0	1	0	0	0	17290	884	31	1	596	1	VPS11	11	118941054	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	7786103	118941054	16065462	37	20448											
SLC2A3	6515	broad.mit.edu	37	chr12	8083869	8083869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagaattccaacaacgatgCccagctggttgagagtgcca	12	7	10	12	1	0	2	0	1	0	2	1	4	1	2	4	1	5	2	4	1	3	2			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr12:8083869C>T	ENST00000075120.7	-	4	722	c.482G>A	c.(481-483)gGc>gAc	p.G161D		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	161					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		AACAACGATGCCCAGCTGGTT	0.488													T	8083869	C	T	8083869	3	4	296	1	0	0	0	0	1	0	0	0	14639	739	26	2	1036	2	SLC2A3	12	8083869	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08		8083869	125768026	38	20449											
GPC5	2262	broad.mit.edu	37	chr13	92101015	92101015	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaaatgttgtgtgttccagGacctgatcttcaggtttgca	10	14	10	7	0	2	1	1	1	1	0	3	2	3	2	2	2	1	4	2	2	2	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr13:92101015G>T	ENST00000377067.3	+	2	536	c.164G>T	c.(163-165)gGa>gTa	p.G55V		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	55						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				TGTGTTCCAGGACCTGATCTT	0.413													T	92101015	G	T	92101015	5	4	296	1	0	0	0	0	0	0	1	0	6655	1188	41	4	170	4	GPC5	13	92101015	Splice_Site	SNP	G	TCGA-CS-6188-01A-11D-1893-08		92101015	23068863	39	20450											
ACIN1	22985	broad.mit.edu	37	chr14	23550990	23550990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgatcgtctttctcctttCcttggtttctcatcatcaga	6	18	6	11	1	5	2	3	1	3	1	9	3	6	2	2	1	0	1	2	1	0	4			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:23550990C>T	ENST00000262710.1	-	5	993	c.666G>A	c.(664-666)agG>agA	p.R222R	ACIN1_ENST00000457657.1_Silent_p.R182R|ACIN1_ENST00000605057.1_Silent_p.R164R|ACIN1_ENST00000555053.1_Silent_p.R222R	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	222	Glu-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TTTCTCCTTTCCTTGGTTTCT	0.388													T	23550990	C	T	23550990	2	4	296	1	0	0	0	0	0	0	0	1	142	854	30	2		2	ACIN1	14	23550990	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		23550990	83798550	40	20451											
SSTR1	6751	broad.mit.edu	37	chr14	38679008	38679008	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgctcagcgtggacgcGgtcaacatgttcaccagcat	8	9	11	13	4	3	0	3	0	0	0	4	1	3	1	1	2	4	3	1	2	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:38679008G>C	ENST00000267377.2	+	3	1031	c.414G>C	c.(412-414)gcG>gcC	p.A138A		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	138					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	GCGTGGACGCGGTCAACATGT	0.647													C	38679008	G	C	38679008	2	2	296	1	0	0	0	0	0	0	0	1	15293	1103	39	4		4	SSTR1	14	38679008	Silent	SNP	G	TCGA-CS-6188-01A-11D-1893-08	15128018	38679008	68670532	41	20452											
AK7	122481	broad.mit.edu	37	chr14	96875258	96875258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggtgatgacttgggcgCgctccaaagccctggacccc	7	6	13	15	4	0	2	0	2	0	0	1	4	1	3	4	3	1	1	4	3	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr14:96875258C>T	ENST00000267584.4	+	4	522	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	160					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GACTTGGGCGCGCTCCAAAGC	0.473													T	96875258	C	T	96875258	3	4	296	1	0	0	0	0	1	0	0	0	444	768	27	1	492	1	AK7	14	96875258	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	58196250	96875258	10474282	42	20453											
PLA2G4D	283748	broad.mit.edu	37	chr15	42371771	42371771	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccagcactagcgcccaCaggtccacaaaggtcgtggg	10	5	12	14	2	0	0	0	0	0	0	3	1	2	0	3	3	2	1	3	3	2	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr15:42371771C>G	ENST00000290472.3	-	13	1375	c.1281G>C	c.(1279-1281)ctG>ctC	p.L427L		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	427	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTAGCGCCCACAGGTCCACAA	0.701													G	42371771	C	G	42371771	2	3	296	1	0	0	0	0	0	0	0	1	12081	465	17	4		4	PLA2G4D	15	42371771	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		42371771	60159621	43	20454											
ITGA11	22801	broad.mit.edu	37	chr15	68620499	68620499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaggaaggcggccaggCaggtggcatccctgccactg	9	4	16	12	1	0	1	0	0	0	1	1	2	1	2	3	6	2	3	3	6	1	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr15:68620499C>A	ENST00000423218.2	-	16	2098	c.2003G>T	c.(2002-2004)tGc>tTc	p.C668F	ITGA11_ENST00000315757.7_Missense_Mutation_p.C668F			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	668					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity	p.C668F(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGCGGCCAGGCAGGTGGCATC	0.577													A	68620499	C	A	68620499	3	1	296	1	0	0	0	0	1	0	0	0	7932	710	25	4	1623	4	ITGA11	15	68620499	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	26248728	68620499	33910893	44	20455											
CDYL2	124359	broad.mit.edu	37	chr16	80646582	80646582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccagcaggcgtgaggcGgatggtggcgtagggcgtct	6	6	20	9	4	1	1	0	1	1	0	1	2	1	2	1	6	2	3	1	6	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr16:80646582G>A	ENST00000570137.2	-	5	1314	c.1159C>T	c.(1159-1161)Cgc>Tgc	p.R387C	CDYL2_ENST00000563890.1_Missense_Mutation_p.R388C|CDYL2_ENST00000566173.1_Missense_Mutation_p.R388C|CDYL2_ENST00000562812.1_Missense_Mutation_p.R388C	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						GGCGTGAGGCGGATGGTGGCG	0.657													A	80646582	G	A	80646582	3	1	296	1	0	0	0	0	1	0	0	0	3216	1116	39	1	373	1	CDYL2	16	80646582	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		80646582	9708171	45	20456											
MYOCD	93649	broad.mit.edu	37	chr17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgacctgtcagtcGctgggtccctgccggacacc	4	9	10	18	2	2	1	1	1	1	0	5	2	4	2	6	2	1	1	6	2	0	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr17:12656007G>A	ENST00000425538.1	+	10	1602	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A372T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627													A	12656007	G	A	12656007	3	1	296	1	0	0	0	0	1	0	0	0	10163	1087	38	1	1440	1	MYOCD	17	12656007	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		12656007	68539203	46	20457											
HGS	9146	broad.mit.edu	37	chr17	79657241	79657241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccagaattcaaagagagcGatgccatgtttgctgccgag	11	10	11	9	2	1	2	1	0	0	2	2	5	2	2	3	0	4	2	3	0	2	3			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr17:79657241G>A	ENST00000329138.4	+	6	580	c.445G>A	c.(445-447)Gat>Aat	p.D149N		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	149					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			CAAAGAGAGCGATGCCATGTT	0.617													A	79657241	G	A	79657241	3	1	296	1	0	0	0	0	1	0	0	0	7142	1058	37	1	467	1	HGS	17	79657241	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08	67001234	79657241	1537969	47	20458											
ZNF555	148254	broad.mit.edu	37	chr19	2852903	2852903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaataacacacactggCgagaagccatataaatgtaa	19	6	6	10	1	0	1	0	0	0	1	0	2	0	1	1	1	2	1	1	1	7	4	rs148620935		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:2852903C>T	ENST00000334241.4	+	4	978	c.840C>T	c.(838-840)ggC>ggT	p.G280G	ZNF555_ENST00000591539.1_Silent_p.G279G|AC006130.3_ENST00000589365.1_RNA	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CACACACTGGCGAGAAGCCAT	0.408													T	2852903	C	T	2852903	2	4	296	1	0	0	0	0	0	0	0	1	18087	755	27	1		1	ZNF555	19	2852903	Silent	SNP	C	TCGA-CS-6188-01A-11D-1893-08		2852903	56276080	48	20459											
CD209	30835	broad.mit.edu	37	chr19	7810483	7810483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctcacccactgcagcCttcagccgggtcagctcctg	7	7	11	16	1	3	0	3	0	0	0	4	1	4	1	4	2	5	3	4	2	1	1	rs11465379	byFrequency	TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:7810483C>A	ENST00000315599.7	-	4	691	c.669G>T	c.(667-669)aaG>aaT	p.K223N	CD209_ENST00000593660.1_Intron|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K199N|CD209_ENST00000204801.8_Missense_Mutation_p.K179N|CD209_ENST00000601256.1_Missense_Mutation_p.K199N|CD209_ENST00000602261.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K223N|CD209_ENST00000601951.1_Missense_Mutation_p.K199N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	223	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTGCAGCCTTCAGCCGGG	0.572													A	7810483	C	A	7810483	3	1	296	1	0	0	0	0	1	0	0	0	3014	680	24	4	561	4	CD209	19	7810483	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	4957580	7810483	51318500	49	20460											
CD209	30835	broad.mit.edu	37	chr19	7810552	7810552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctcacccactgcagcCttcagccgggtcagctcctg	7	7	11	16	1	3	0	3	0	0	0	4	1	4	1	4	2	5	3	4	2	1	1			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:7810552C>A	ENST00000315599.7	-	4	622	c.600G>T	c.(598-600)aaG>aaT	p.K200N	CD209_ENST00000593660.1_Missense_Mutation_p.K176N|CD209_ENST00000394173.4_Intron|CD209_ENST00000315591.8_Missense_Mutation_p.K176N|CD209_ENST00000204801.8_Missense_Mutation_p.K156N|CD209_ENST00000601256.1_Missense_Mutation_p.K176N|CD209_ENST00000602261.1_Intron|CD209_ENST00000301357.8_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.K200N|CD209_ENST00000601951.1_Missense_Mutation_p.K176N|CD209_ENST00000394161.5_Intron|CD209_ENST00000593821.1_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	200	7 X approximate tandem repeats.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCACTGCAGCCTTCAGCCGGG	0.557													A	7810552	C	A	7810552	3	1	296	1	0	0	0	0	1	0	0	0	3014	680	24	4	630	4	CD209	19	7810552	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	69	7810552	51318431	50	20461											
GPATCH1	55094	broad.mit.edu	37	chr19	33608853	33608853	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatcctccgaggatgagcaAggtgacagtgaagatgatca	13	8	12	8	1	2	5	2	4	0	1	4	7	4	6	2	2	1	1	2	2	2	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:33608853A>G	ENST00000170564.2	+	16	2633	c.2319A>G	c.(2317-2319)caA>caG	p.Q773Q		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	773						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					AGGATGAGCAAGGTGACAGTG	0.537													G	33608853	A	G	33608853	2	3	296	1	0	0	0	0	0	0	0	1	6644	69	3	3		3	GPATCH1	19	33608853	Silent	SNP	A	TCGA-CS-6188-01A-11D-1893-08	25798301	33608853	25520130	51	20462											
LILRA2	11027	broad.mit.edu	37	chr19	55087420	55087420	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggccatcccccactgcatCtgagatcagagcaccaagct	11	6	8	16	0	2	2	1	1	1	2	3	3	3	2	4	1	3	3	4	1	1	0			TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr19:55087420C>G	ENST00000251377.3	+	7	1232	c.1099C>G	c.(1099-1101)Ctg>Gtg	p.L367V	LILRA2_ENST00000391737.1_Missense_Mutation_p.L355V|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.L367V|LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.L367V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCACTGCATCTGAGATCAGA	0.587													G	55087420	C	G	55087420	3	3	296	1	0	0	0	0	1	0	0	0	8845	912	32	4	1121	4	LILRA2	19	55087420	Missense_Mutation	SNP	C	TCGA-CS-6188-01A-11D-1893-08	21478567	55087420	4041563	52	20463											
RIPK4	54101	broad.mit.edu	37	chr21	43161015	43161015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctaggtcttgcttcgccGcaggagcgtggcggcggggc	4	7	18	12	5	1	0	0	0	1	0	2	1	1	1	1	6	3	3	1	6	1	3	rs140909597		TCGA-CS-6188-01A-11D-1893-08	TCGA-CS-6188-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adacd0a6-53f0-46c1-9f59-e30cb1b56164	1026b480-665c-4646-8fec-982cc07dca1e	g.chr21:43161015G>A	ENST00000352483.2	-	9	2546	c.2482C>T	c.(2482-2484)Cgg>Tgg	p.R828W	RIPK4_ENST00000542057.1_Missense_Mutation_p.R717W|RIPK4_ENST00000544709.1_Missense_Mutation_p.R717W|RIPK4_ENST00000332512.3_Missense_Mutation_p.R780W|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	780						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TTGCTTCGCCGCAGGAGCGTG	0.667													A	43161015	G	A	43161015	3	1	296	1	0	0	0	0	1	0	0	0	13474	1086	38	1	20	1	RIPK4	21	43161015	Missense_Mutation	SNP	G	TCGA-CS-6188-01A-11D-1893-08		43161015	4968880	53	20464											
IL22RA1	58985	broad.mit.edu	37	chr1	24447958	24447958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgacctcaggggcagcGtttggggcataggacagtgg	7	6	18	10	2	1	0	1	0	0	0	1	2	1	1	2	7	1	3	2	7	1	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:24447958G>A	ENST00000270800.1	-	7	1100	c.1062C>T	c.(1060-1062)aaC>aaT	p.N354N		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	354						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CAGGGGCAGCGTTTGGGGCAT	0.607													A	24447958	G	A	24447958	2	1	297	1	0	0	0	0	0	0	0	1	7731	1136	40	1		1	IL22RA1	1	24447958	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08		24447958	224802663	1	20465											
PCSK9	255738	broad.mit.edu	37	chr1	55523126	55523126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatcattggtgcctccagCgactgcagcacctgctttgt	7	11	10	13	1	1	0	1	0	0	0	2	2	2	0	3	1	5	3	3	1	0	2	rs139683719		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:55523126C>T	ENST00000302118.5	+	7	1409	c.1119C>T	c.(1117-1119)agC>agT	p.S373S	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Silent_p.S173S	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	373	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GTGCCTCCAGCGACTGCAGCA	0.617													T	55523126	C	T	55523126	2	4	297	1	0	0	0	0	0	0	0	1	11682	767	27	1		1	PCSK9	1	55523126	Silent	SNP	C	TCGA-CS-6290-01A-11D-1705-08	31075168	55523126	193727495	2	20466											
AMPD2	271	broad.mit.edu	37	chr1	110170831	110170831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggccgtgaacagacgctgCgggaggtctttgagagcatg	9	7	17	8	3	1	3	0	2	1	2	1	5	1	4	1	3	3	2	1	3	1	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:110170831C>T	ENST00000256578.3	+	10	1729	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	AMPD2_ENST00000528667.1_Missense_Mutation_p.R457W|AMPD2_ENST00000528454.1_Missense_Mutation_p.R339W|AMPD2_ENST00000393688.3_Missense_Mutation_p.R338W|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.R382W|AMPD2_ENST00000342115.4_Missense_Mutation_p.R376W	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	457					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		ACAGACGCTGCGGGAGGTCTT	0.602													T	110170831	C	T	110170831	3	4	297	1	0	0	0	0	1	0	0	0	586	759	27	1	1448	1	AMPD2	1	110170831	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	54647705	110170831	139079790	3	20467											
CR2	1380	broad.mit.edu	37	chr1	207648381	207648381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgatctcctcctgtgactCgctgccctaatccagaagtc	8	11	7	15	2	1	2	0	1	1	1	6	3	3	2	4	0	2	1	4	0	3	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr1:207648381C>T	ENST00000367057.3	+	14	2725	c.2536C>T	c.(2536-2538)Cgc>Tgc	p.R846C	CR2_ENST00000458541.2_Missense_Mutation_p.R760C|CR2_ENST00000367059.3_Missense_Mutation_p.R787C|CR2_ENST00000367058.3_Missense_Mutation_p.R787C	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	911					complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	p.R846S(1)		NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						TCCTGTGACTCGCTGCCCTAA	0.463													T	207648381	C	T	207648381	3	4	297	1	0	0	0	0	1	0	0	0	3873	884	31	1	2590	1	CR2	1	207648381	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	97477550	207648381	41602240	4	20468											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	297	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		209113112	34086261	5	20469											
FOXP1	27086	broad.mit.edu	37	chr3	71096104	71096104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgcataccttgagcaagaGgttgaaggggaagggcaggc	13	5	16	7	1	0	3	0	2	0	1	0	4	0	4	1	5	3	4	1	5	5	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:71096104G>A	ENST00000318789.4	-	10	1178	c.653C>T	c.(652-654)cCt>cTt	p.P218L	FOXP1_ENST00000491238.1_Missense_Mutation_p.P220L|FOXP1_ENST00000468577.1_Missense_Mutation_p.P218L|FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000493089.1_Missense_Mutation_p.P218L|FOXP1_ENST00000484350.1_Missense_Mutation_p.P142L|FOXP1_ENST00000475937.1_Missense_Mutation_p.P218L|FOXP1_ENST00000498215.1_Missense_Mutation_p.P218L	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	218	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TTGAGCAAGAGGTTGAAGGGG	0.502			T	PAX5	ALL								A	71096104	G	A	71096104	3	1	297	1	0	0	0	0	1	0	0	0	6077	1000	35	2	1428	2	FOXP1	3	71096104	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08		71096104	126926326	6	20470											
NFKBIZ	64332	broad.mit.edu	37	chr3	101576203	101576203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggttgacacaattagatgCtgtccgcctgttgatgagga	9	12	12	8	2	0	4	0	3	0	1	2	5	1	5	2	2	1	3	2	2	2	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:101576203C>A	ENST00000326172.5	+	11	2118	c.2003C>A	c.(2002-2004)gCt>gAt	p.A668D	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.A568D|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.A546D	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	668	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAATTAGATGCTGTCCGCCTG	0.502													A	101576203	C	A	101576203	3	1	297	1	0	0	0	0	1	0	0	0	10459	797	28	4	2045	4	NFKBIZ	3	101576203	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	30480099	101576203	96446227	7	20471											
SLC33A1	9197	broad.mit.edu	37	chr3	155571395	155571395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagttcttaacgtagaccGcatcaaccaacggggcccag	12	6	10	13	4	2	1	1	0	1	1	2	2	2	1	3	2	3	3	3	2	5	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:155571395G>A	ENST00000392845.3	-	1	772	c.392C>T	c.(391-393)gCg>gTg	p.A131V	SLC33A1_ENST00000359479.3_Missense_Mutation_p.A131V			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AACGTAGACCGCATCAACCAA	0.438													A	155571395	G	A	155571395	3	1	297	1	0	0	0	0	1	0	0	0	14660	1087	38	1	1281	1	SLC33A1	3	155571395	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08	53995192	155571395	42451035	8	20472											
C3orf70	285382	broad.mit.edu	37	chr3	184870438	184870438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacaccatcctaggtgacaGcaccagtgcagcttgaagca	12	7	10	12	0	0	3	0	3	0	0	1	3	1	3	3	1	4	4	3	1	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr3:184870438G>A	ENST00000335012.2	-	1	364	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_001025266.1	NP_001020437.1	A6NLC5	CC070_HUMAN	chromosome 3 open reading frame 70	58										breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|urinary_tract(1)	13						CTAGGTGACAGCACCAGTGCA	0.692													A	184870438	G	A	184870438	2	1	297	1	0	0	0	0	0	0	0	1	2263	963	34	2		2	C3orf70	3	184870438	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08	29299043	184870438	13151992	9	20473											
ARHGEF38	54848	broad.mit.edu	37	chr4	106474027	106474027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagaaggaagactgaCactgtggttgagagcagtgt	12	8	16	5	0	0	4	0	2	0	3	0	8	0	6	0	3	1	2	0	3	2	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:106474027C>A	ENST00000420470.2	+	1	249	c.105C>A	c.(103-105)gaC>gaA	p.D35E	ARHGEF38_ENST00000265154.2_Missense_Mutation_p.D35E	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	35					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						GGAAGACTGACACTGTGGTTG	0.468													A	106474027	C	A	106474027	3	1	297	1	0	0	0	0	1	0	0	0	910	477	17	4	107	4	ARHGEF38	4	106474027	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		106474027	84680249	10	20474											
TDO2	6999	broad.mit.edu	37	chr4	156831281	156831281	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccttataacagaagacAttatcgtgataacttcaaag	16	11	6	8	1	1	3	1	1	0	2	3	3	2	3	1	0	2	0	1	0	6	5			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:156831281A>T	ENST00000536354.2	+	6	600	c.536A>T	c.(535-537)cAt>cTt	p.H179L		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	179					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	AACAGAAGACATTATCGTGAT	0.373													T	156831281	A	T	156831281	3	4	297	1	0	0	0	0	1	0	0	0	15827	217	8	5	558	5	TDO2	4	156831281	Missense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08	50357254	156831281	34322995	11	20475											
ACSL1	2180	broad.mit.edu	37	chr4	185679015	185679015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacgacccttcaaatcctctCttttgggcccaggaacataa	12	10	6	13	1	2	0	1	0	1	0	4	2	3	1	3	2	2	0	3	2	4	4			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr4:185679015C>G	ENST00000515030.1	-	19	2167	c.1842G>C	c.(1840-1842)aaG>aaC	p.K614N	ACSL1_ENST00000513317.1_Missense_Mutation_p.K614N|ACSL1_ENST00000504342.1_Missense_Mutation_p.K614N|ACSL1_ENST00000454703.2_Missense_Mutation_p.K443N|ACSL1_ENST00000281455.2_Missense_Mutation_p.K614N|ACSL1_ENST00000507295.1_Missense_Mutation_p.K580N|ACSL1_ENST00000437665.3_Missense_Mutation_p.K443N			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	614					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CAAATCCTCTCTTTTGGGCCC	0.408													G	185679015	C	G	185679015	3	3	297	1	0	0	0	0	1	0	0	0	177	912	32	4	266	4	ACSL1	4	185679015	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	28847734	185679015	5475261	12	20476											
OR2B6	26212	broad.mit.edu	37	chr6	27925799	27925799	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccgtctctgtgtacctgCaaccaccttcgcccagctcc	6	9	7	19	2	1	0	0	0	1	0	4	0	2	0	6	0	5	3	6	0	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:27925799C>T	ENST00000244623.1	+	1	781	c.781C>T	c.(781-783)Caa>Taa	p.Q261*		NM_012367.1	NP_036499.1	P58173	OR2B6_HUMAN	olfactory receptor, family 2, subfamily B, member 6	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGTACCTGCAACCACCTTC	0.448													T	27925799	C	T	27925799	4	4	297	1	0	0	0	0	0	1	0	0	11067	711	25	2	783	2	OR2B6	6	27925799	Nonsense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		27925799	143189268	13	20477											
HSPA1L	3305	broad.mit.edu	37	chr6	31778479	31778479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaaatctgtgtctgcttgGtggggatggtggagttgcgc	6	13	17	5	1	2	1	0	1	2	0	2	3	2	3	0	5	2	2	0	5	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:31778479G>T	ENST00000375654.4	-	2	1460	c.1271C>A	c.(1270-1272)aCc>aAc	p.T424N	HSPA1L_ENST00000417199.3_Missense_Mutation_p.T424N	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	424				T -> P (in Ref. 1; AAA63228).	response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TGTCTGCTTGGTGGGGATGGT	0.602													T	31778479	G	T	31778479	3	4	297	1	0	0	0	0	1	0	0	0	7467	1261	44	4	658	4	HSPA1L	6	31778479	Missense_Mutation	SNP	G	TCGA-CS-6290-01A-11D-1705-08	3852680	31778479	139336588	14	20478											
LGSN	51557	broad.mit.edu	37	chr6	63990534	63990534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaatccctgaatcacaaaAtccagtctcaatgaagaagc	18	7	5	11	0	2	3	2	2	1	1	5	3	4	3	2	0	1	0	2	0	8	0			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr6:63990534A>G	ENST00000370657.4	-	4	955	c.922T>C	c.(922-924)Ttt>Ctt	p.F308L	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	308					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GAATCACAAAATCCAGTCTCA	0.428													G	63990534	A	G	63990534	3	3	297	1	0	0	0	0	1	0	0	0	8819	101	4	3	611	3	LGSN	6	63990534	Missense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08	32212055	63990534	107124533	15	20479											
OR5AN1	390195	broad.mit.edu	37	chr11	59132638	59132638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttcagctaaaggcaggtCcaaggcattcaacacctgtg	12	8	9	12	0	2	0	2	0	0	0	3	0	3	0	2	3	2	3	2	3	4	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr11:59132638C>A	ENST00000313940.2	+	1	754	c.707C>A	c.(706-708)tCc>tAc	p.S236Y		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						AAAGGCAGGTCCAAGGCATTC	0.423													A	59132638	C	A	59132638	3	1	297	1	0	0	0	0	1	0	0	0	11219	855	30	4	709	4	OR5AN1	11	59132638	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		59132638	75873878	16	20480											
OVCH1	341350	broad.mit.edu	37	chr12	29618094	29618094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttcacctgctctgttgattCcttcaggtttctgtcatggt	4	19	8	10	0	5	1	3	1	2	0	6	1	6	1	2	2	1	3	2	2	0	5			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:29618094C>G	ENST00000318184.5	-	17	1914	c.1915G>C	c.(1915-1917)Gaa>Caa	p.E639Q	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	639	Peptidase S1 2.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					TCTGTTGATTCCTTCAGGTTT	0.378													G	29618094	C	G	29618094	3	3	297	1	0	0	0	0	1	0	0	0	11399	864	30	4	1537	4	OVCH1	12	29618094	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		29618094	104233801	17	20481											
OAS2	4939	broad.mit.edu	37	chr12	113447044	113447044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccaccttggaaagtgcCggtaaaagtcatctaaagga	16	8	9	8	1	2	0	1	0	1	0	2	2	2	2	3	3	2	1	3	3	7	4	rs147522268	byFrequency	TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr12:113447044C>T	ENST00000392583.2	+	10	2255	c.2048C>T	c.(2047-2049)cCg>cTg	p.P683L	OAS2_ENST00000342315.4_Splice_Site_p.P683L|RP1-71H24.1_ENST00000552784.1_RNA	NM_002535.2	NP_002526.2	P29728	OAS2_HUMAN	2'-5'-oligoadenylate synthetase 2, 69/71kDa	683	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|membrane|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			NS(1)|breast(2)|endometrium(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TGGAAAGTGCCGGTAAAAGTC	0.458													T	113447044	C	T	113447044	3	4	297	1	0	0	0	0	1	0	0	0	10876	666	23	1	2157	1	OAS2	12	113447044	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	83828950	113447044	20404851	18	20482											
MYH7	4625	broad.mit.edu	37	chr14	23898270	23898270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatccagttgaacatcCtctcatacactgccttggcc	9	11	5	16	0	2	1	2	1	1	0	5	1	4	1	5	1	3	1	5	1	2	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr14:23898270C>T	ENST00000355349.3	-	14	1463	c.1301G>A	c.(1300-1302)aGg>aAg	p.R434K		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	434	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGAACATCCTCTCATACAC	0.542													T	23898270	C	T	23898270	3	4	297	1	0	0	0	0	1	0	0	0	10115	681	24	2	4614	2	MYH7	14	23898270	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		23898270	83451270	19	20483											
TRIP4	9325	broad.mit.edu	37	chr15	64716294	64716294	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatagcagccacagctaaaAaaccctcccctcaagaagtc	15	5	7	14	0	1	1	1	0	0	1	3	2	2	2	4	1	4	2	4	1	6	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr15:64716294A>T	ENST00000261884.3	+	10	1483	c.1423A>T	c.(1423-1425)Aaa>Taa	p.K475*		NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	475					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						CACAGCTAAAAAACCCTCCCC	0.448													T	64716294	A	T	64716294	4	4	297	1	0	0	0	0	0	1	0	0	16659	15	1	5	1461	5	TRIP4	15	64716294	Nonsense_Mutation	SNP	A	TCGA-CS-6290-01A-11D-1705-08		64716294	37815098	20	20484											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	297	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-CS-6290-01A-11D-1705-08		7578394	73616816	21	20485											
MYH2	4620	broad.mit.edu	37	chr17	10432154	10432154	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acactatctgcatgcttcttCctcagggtggccgctgtggc	5	12	11	13	1	3	0	1	0	2	0	4	0	4	0	2	3	2	3	2	3	1	3			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:10432154C>G	ENST00000245503.5	-	27	3981	c.3597G>C	c.(3595-3597)agG>agC	p.R1199S	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1199S	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1199					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATGCTTCTTCCTCAGGGTGG	0.552													G	10432154	C	G	10432154	3	3	297	1	0	0	0	0	1	0	0	0	10111	854	30	4	2284	4	MYH2	17	10432154	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	2853760	10432154	70763056	22	20486											
UNC45B	146862	broad.mit.edu	37	chr17	33475300	33475300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggcagaggtggaagcGgtacagctgaaggaggaagg	13	4	19	5	1	0	3	0	1	0	2	0	6	0	6	0	7	3	3	0	7	4	1			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr17:33475300G>A	ENST00000268876.5	+	2	115	c.18G>A	c.(16-18)gcG>gcA	p.A6A	UNC45B_ENST00000394570.2_Silent_p.A6A|UNC45B_ENST00000378449.1_Silent_p.A6A|UNC45B_ENST00000591048.1_Silent_p.A6A|UNC45B_ENST00000433649.1_Silent_p.A6A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	6					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				AGGTGGAAGCGGTACAGCTGA	0.612													A	33475300	G	A	33475300	2	1	297	1	0	0	0	0	0	0	0	1	17091	1103	39	1		1	UNC45B	17	33475300	Silent	SNP	G	TCGA-CS-6290-01A-11D-1705-08	23043146	33475300	47719910	23	20487											
XAB2	56949	broad.mit.edu	37	chr19	7686177	7686177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacagcgagatgccgcgctCgtacgcctgttaccagaggg	9	6	14	12	5	0	2	0	0	0	2	1	4	0	2	3	1	5	3	3	1	3	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:7686177C>T	ENST00000358368.4	-	13	1661	c.1624G>A	c.(1624-1626)Gag>Aag	p.E542K	XAB2_ENST00000534844.1_Missense_Mutation_p.E539K	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	542					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ATGCCGCGCTCGTACGCCTGT	0.607								Direct reversal of damage;Nucleotide excision repair (NER)					T	7686177	C	T	7686177	3	4	297	1	0	0	0	0	1	0	0	0	17520	893	31	1	971	1	XAB2	19	7686177	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08		7686177	51442806	24	20488											
PIH1D1	55011	broad.mit.edu	37	chr19	49954795	49954795	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaccgatcgcctccgcctCgcttagccccattcccagca	7	7	7	20	4	0	0	0	0	0	0	4	1	2	0	7	0	3	3	7	0	1	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr19:49954795C>A	ENST00000262265.5	-	1	272	c.37G>T	c.(37-39)Gag>Tag	p.E13*	PIH1D1_ENST00000596049.1_Nonsense_Mutation_p.E13*	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	13					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		GCCTCCGCCTCGCTTAGCCCC	0.607													A	49954795	C	A	49954795	4	1	297	1	0	0	0	0	0	1	0	0	11983	893	31	4	871	4	PIH1D1	19	49954795	Nonsense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	42268618	49954795	9174188	25	20489											
JAG1	182	broad.mit.edu	37	chr20	10622192	10622192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagaggtgcactttgtcttCaccggctggagactggaaga	9	10	13	9	1	3	3	2	0	1	3	3	5	3	4	1	4	1	2	1	4	1	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:10622192C>T	ENST00000254958.5	-	23	3347	c.2832G>A	c.(2830-2832)gtG>gtA	p.V944V	JAG1_ENST00000423891.2_Silent_p.V785V	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	944					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTTTGTCTTCACCGGCTGGA	0.537									Alagille Syndrome				T	10622192	C	T	10622192	2	4	297	1	0	0	0	0	0	0	0	1	7992	813	29	2		2	JAG1	20	10622192	Silent	SNP	C	TCGA-CS-6290-01A-11D-1705-08		10622192	52403328	26	20490											
CSRP2BP	57325	broad.mit.edu	37	chr20	18139760	18139760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtggagcaccgtggCaggttgcctcagcgtgggaa	7	8	16	10	2	1	0	1	0	0	0	1	2	1	2	3	5	4	3	3	5	2	2			TCGA-CS-6290-01A-11D-1705-08	TCGA-CS-6290-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9a31a094-fbeb-44ff-a939-16f71a0ba8d8	e6c5bbe0-666a-406b-bc8f-de3d71f88961	g.chr20:18139760C>T	ENST00000435364.3	+	4	874	c.533C>T	c.(532-534)gCa>gTa	p.A178V	CSRP2BP_ENST00000377681.3_Missense_Mutation_p.A178V|CSRP2BP_ENST00000489634.2_Missense_Mutation_p.A50V	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein						histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						AGCACCGTGGCAGGTTGCCTC	0.468													T	18139760	C	T	18139760	3	4	297	1	0	0	0	0	1	0	0	0	4001	710	25	2	547	2	CSRP2BP	20	18139760	Missense_Mutation	SNP	C	TCGA-CS-6290-01A-11D-1705-08	7517568	18139760	44885760	27	20491											
AJAP1	55966	broad.mit.edu	37	chr1	4832380	4832380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtcggaacagccaccagCggaagaccaaccagcaggag	13	2	12	14	3	0	1	0	0	0	1	2	4	0	4	4	3	5	1	4	3	3	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:4832380C>T	ENST00000378191.4	+	4	1339	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	AJAP1_ENST00000378190.3_Missense_Mutation_p.R320W	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	320	Targeting signals.				cell adhesion	adherens junction|apical plasma membrane|basolateral plasma membrane|integral to membrane				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CAGCCACCAGCGGAAGACCAA	0.607													T	4832380	C	T	4832380	3	4	298	1	0	0	0	0	1	0	0	0	438	759	27	1	972	1	AJAP1	1	4832380	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		4832380	244418241	1	20492											
CAMTA1	23261	broad.mit.edu	37	chr1	7796570	7796570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccgctgcccagggctatgCcaccctaatccagaccctca	8	6	9	18	1	1	1	1	0	0	1	2	1	2	1	6	2	2	2	6	2	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:7796570C>T	ENST00000303635.7	+	13	3440	c.3233C>T	c.(3232-3234)gCc>gTc	p.A1078V	CAMTA1_ENST00000439411.2_Missense_Mutation_p.A1078V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1078					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGGGCTATGCCACCCTAATC	0.592			T	WWTR1	epitheliod hemangioendothelioma								T	7796570	C	T	7796570	3	4	298	1	0	0	0	0	1	0	0	0	2639	739	26	2	3283	2	CAMTA1	1	7796570	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2964190	7796570	241454051	2	20493											
CLSTN1	22883	broad.mit.edu	37	chr1	9794036	9794036	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgctccccttacctgtgaAggtcatgcccagttcagagc	8	9	10	14	1	2	2	2	1	0	1	3	2	3	2	4	1	4	2	4	1	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:9794036A>C	ENST00000377298.4	-	15	3067	c.2275T>G	c.(2275-2277)Ttc>Gtc	p.F759V	CLSTN1_ENST00000361311.4_Missense_Mutation_p.F749V|CLSTN1_ENST00000377288.3_Missense_Mutation_p.F740V	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	759					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		TTACCTGTGAAGGTCATGCCC	0.612													C	9794036	A	C	9794036	3	2	298	1	0	0	0	0	1	0	0	0	3592	72	3	5	690	5	CLSTN1	1	9794036	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	1997466	9794036	239456585	3	20494											
TRIT1	54802	broad.mit.edu	37	chr1	40318536	40318536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaatcactttctcagtgcCcatctcctggggctattaaa	9	13	7	12	0	4	0	3	0	2	0	6	0	4	0	2	2	1	1	2	2	4	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:40318536C>A	ENST00000316891.5	-	4	441	c.427G>T	c.(427-429)Ggc>Tgc	p.G143C	TRIT1_ENST00000541099.1_Intron|TRIT1_ENST00000545233.1_Intron|TRIT1_ENST00000372818.1_Missense_Mutation_p.G143C|TRIT1_ENST00000537440.1_Intron|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000544981.1_Intron|TRIT1_ENST00000441669.2_Missense_Mutation_p.G63C|TRIT1_ENST00000491865.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	143					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTCTCAGTGCCCATCTCCTGG	0.448													A	40318536	C	A	40318536	3	1	298	1	0	0	0	0	1	0	0	0	16661	623	22	4	1008	4	TRIT1	1	40318536	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	30524500	40318536	208932085	4	20495											
SEP15	9403	broad.mit.edu	37	chr1	87369113	87369113	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcctccgatgaaaactCtgccccaaaagcagacacct	13	6	7	15	1	1	2	0	1	1	1	2	3	2	2	5	0	4	2	5	0	4	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:87369113C>A	ENST00000331835.5	-	2	356	c.94G>T	c.(94-96)Gag>Tag	p.E32*	SEP15_ENST00000469566.1_5'UTR|SEP15_ENST00000370554.1_Nonsense_Mutation_p.E32*|SEP15_ENST00000401030.3_Nonsense_Mutation_p.E32*	NM_004261.3	NP_004252.2	O60613	SEP15_HUMAN							'de novo' posttranslational protein folding	endoplasmic reticulum lumen	selenium binding						Lung NSC(277;0.153)		all cancers(265;0.00744)|Epithelial(280;0.0333)		GATGAAAACTCTGCCCCAAAA	0.418													A	87369113	C	A	87369113	4	1	298	1	0	0	0	0	0	1	0	0	14146	922	32	4	410	4	SEP15	1	87369113	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	47050577	87369113	161881508	5	20496											
SPRR2G	6706	broad.mit.edu	37	chr1	153122438	153122438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggcatttatcctggcatGgtggaggtgggcaatgctca	8	10	16	7	0	1	0	1	0	0	0	2	2	2	1	1	6	1	4	1	6	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:153122438G>A	ENST00000368748.4	-	2	187	c.149C>T	c.(148-150)cCa>cTa	p.P50L		NM_001014291.3	NP_001014313.1	Q9BYE4	SPR2G_HUMAN	small proline-rich protein 2G	50					keratinization	cornified envelope|cytoplasm				endometrium(1)|lung(1)|skin(1)	3	all_lung(78;1.78e-30)|Lung NSC(65;7.29e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATCCTGGCATGGTGGAGGTGG	0.567													A	153122438	G	A	153122438	3	1	298	1	0	0	0	0	1	0	0	0	15198	1348	47	2	76	2	SPRR2G	1	153122438	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	65753325	153122438	96128183	6	20497											
ADAR	103	broad.mit.edu	37	chr1	154560602	154560602	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggcatgtatcactcaccGttctccaccttggtgcggag	6	10	13	12	2	3	0	2	0	1	0	4	1	3	1	3	4	1	3	3	4	1	3	rs151241634	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:154560602G>A	ENST00000368474.4	-	11	3217	c.3018C>T	c.(3016-3018)aaC>aaT	p.N1006N	ADAR_ENST00000292205.5_Splice_Site_p.N1049N|ADAR_ENST00000368471.3_Splice_Site_p.N711N	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	1006	A to I editase.				adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		ATCACTCACCGTTCTCCACCT	0.537													A	154560602	G	A	154560602	5	1	298	1	0	0	0	0	0	0	1	0	281	1159	40	1	682	1	ADAR	1	154560602	Splice_Site	SNP	G	TCGA-CS-6665-01A-11D-1893-08	1438164	154560602	94690019	7	20498											
CD244	51744	broad.mit.edu	37	chr1	160811431	160811431	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagatatactggtgacctCcaggcagtagaggccactgt	10	9	11	11	0	0	3	0	1	0	2	2	3	2	3	4	3	1	2	4	3	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:160811431C>A	ENST00000368034.4	-	2	499	c.322G>T	c.(322-324)Gag>Tag	p.E108*	CD244_ENST00000368032.2_Nonsense_Mutation_p.E108*|CD244_ENST00000322302.7_Nonsense_Mutation_p.E108*|CD244_ENST00000368033.3_Nonsense_Mutation_p.E108*	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	108	Ig-like 1.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CTGGTGACCTCCAGGCAGTAG	0.453													A	160811431	C	A	160811431	4	1	298	1	0	0	0	0	0	1	0	0	3017	864	30	4	822	4	CD244	1	160811431	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	6250829	160811431	88439190	8	20499											
RXRG	6258	broad.mit.edu	37	chr1	165398112	165398112	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtggggcactcactggggtAtctgtgtagctggggtggct	4	11	18	8	1	2	0	1	0	1	0	2	0	2	0	0	7	1	5	0	7	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:165398112A>C	ENST00000359842.5	-	2	443	c.141T>G	c.(139-141)gaT>gaG	p.D47E		NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	47	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TCACTGGGGTATCTGTGTAGC	0.607													C	165398112	A	C	165398112	3	2	298	1	0	0	0	0	1	0	0	0	13856	446	16	5	1286	5	RXRG	1	165398112	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	4586681	165398112	83852509	9	20500											
SELE	6401	broad.mit.edu	37	chr1	169697059	169697059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggtggacagcatcgCatctcacagctggaacacac	10	6	13	12	1	1	0	1	0	1	0	3	2	1	2	0	5	3	4	0	5	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:169697059C>T	ENST00000333360.7	-	9	1428	c.1289G>A	c.(1288-1290)tGc>tAc	p.C430Y	SELE_ENST00000367775.1_Missense_Mutation_p.C305Y|SELE_ENST00000367779.4_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.C367Y|SELE_ENST00000367781.4_Missense_Mutation_p.C367Y|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.C305Y|SELE_ENST00000367777.1_Intron|SELE_ENST00000367782.4_Intron|SELE_ENST00000367774.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	430	Sushi 5.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GACAGCATCGCATCTCACAGC	0.498													T	169697059	C	T	169697059	3	4	298	1	0	0	0	0	1	0	0	0	14106	710	25	2	563	2	SELE	1	169697059	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	4298947	169697059	79553562	10	20501											
EDEM3	80267	broad.mit.edu	37	chr1	184695449	184695449	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcaaggatcaaggtaccTgcacaagctgtacaggtatc	14	9	9	9	0	2	0	2	0	0	0	3	1	2	1	1	3	4	5	1	3	7	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:184695449T>C	ENST00000318130.8	-	7	953	c.687A>G	c.(685-687)gcA>gcG	p.A229A	EDEM3_ENST00000367512.3_Silent_p.A186A	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	229					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TCAAGGTACCTGCACAAGCTG	0.388													C	184695449	T	C	184695449	2	2	298	1	0	0	0	0	0	0	0	1	4952	1567	55	3		3	EDEM3	1	184695449	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08	14998390	184695449	64555172	11	20502											
OBSCN	84033	broad.mit.edu	37	chr1	228404888	228404888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggaggatgtggggaCgcggcaccggctggtggcag	6	6	20	9	3	0	0	0	0	0	0	0	3	0	3	1	8	1	4	1	8	0	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:228404888C>T	ENST00000570156.2	+	8	2626	c.2552C>T	c.(2551-2553)aCg>aTg	p.T851M	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T851M|OBSCN_ENST00000284548.11_Missense_Mutation_p.T851M|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	851	Ig-like 8.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GATGTGGGGACGCGGCACCGG	0.652													T	228404888	C	T	228404888	3	4	298	1	0	0	0	0	1	0	0	0	10888	536	19	1	2578	1	OBSCN	1	228404888	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	43709439	228404888	20845733	12	20503											
GPR137B	7107	broad.mit.edu	37	chr1	236341829	236341829	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaggttatcgtctctgtgCgagtggccattaatgacacg	9	11	13	8	3	1	1	0	1	1	0	3	3	1	2	1	3	1	1	1	3	3	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:236341829C>T	ENST00000366592.3	+	3	671	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GPR137B_ENST00000366591.4_Intron	NM_003272.3	NP_003263.1	O60478	G137B_HUMAN	G protein-coupled receptor 137B	194						integral to plasma membrane|membrane fraction				endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.197)|Prostate(94;0.219)|Acute lymphoblastic leukemia(190;0.226)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CGTCTCTGTGCGAGTGGCCAT	0.478													T	236341829	C	T	236341829	4	4	298	1	0	0	0	0	0	1	0	0	6700	760	27	1	590	1	GPR137B	1	236341829	Nonsense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	7936941	236341829	12908792	13	20504											
RYR2	6262	broad.mit.edu	37	chr1	237804239	237804239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacactatccacatggggaaCgcgatcatgaccttctattc	11	10	8	12	2	2	1	1	1	1	0	4	4	3	2	2	2	1	0	2	2	3	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr1:237804239C>G	ENST00000366574.2	+	47	7475	c.7158C>G	c.(7156-7158)aaC>aaG	p.N2386K	RYR2_ENST00000360064.6_Missense_Mutation_p.N2384K|RYR2_ENST00000542537.1_Missense_Mutation_p.N2370K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2386	4 X approximate repeats.		N -> I (in ARVD2 and CPVT1).		cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACATGGGGAACGCGATCATGA	0.443													G	237804239	C	G	237804239	3	3	298	1	0	0	0	0	1	0	0	0	13860	535	19	4	7344	4	RYR2	1	237804239	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1462410	237804239	11446382	14	20505											
BCL11A	53335	broad.mit.edu	37	chr2	60679728	60679728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcagaacttaagggctctCgagcttccatccgaaaactg	11	10	8	12	2	2	1	1	0	2	1	6	3	4	1	2	1	3	2	2	1	4	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:60679728C>T	ENST00000538214.1	-	4	2488	c.2354G>A	c.(2353-2355)cGa>cAa	p.R785Q	BCL11A_ENST00000359629.5_Missense_Mutation_p.R235Q|BCL11A_ENST00000537768.1_Silent_p.S437S|BCL11A_ENST00000356842.4_Silent_p.S768S			Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	0					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TAAGGGCTCTCGAGCTTCCAT	0.557			T	IGH@	B-CLL								T	60679728	C	T	60679728	3	4	298	1	0	0	0	0	1	0	0	0	1368	884	31	1	31	1	BCL11A	2	60679728	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		60679728	182519645	15	20506											
RND3	390	broad.mit.edu	37	chr2	151326607	151326607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgctttgtggctctctgtGatttgttccgcttaacgttt	3	19	9	10	3	1	1	0	1	1	0	4	1	3	1	2	1	1	5	2	1	1	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:151326607G>A	ENST00000375734.2	-	5	878	c.629C>T	c.(628-630)tCa>tTa	p.S210L	RND3_ENST00000409557.1_Missense_Mutation_p.S81L|RND3_ENST00000263895.4_Missense_Mutation_p.S210L	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	210					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GGCTCTCTGTGATTTGTTCCG	0.458													A	151326607	G	A	151326607	3	1	298	1	0	0	0	0	1	0	0	0	13512	1294	45	2	109	2	RND3	2	151326607	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	90646879	151326607	91872766	16	20507											
ZDBF2	57683	broad.mit.edu	37	chr2	207169761	207169761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagtagatattggtcaggCtacaaataatagaagcaact	16	10	8	7	0	1	2	1	0	0	2	1	2	1	2	1	2	3	3	1	2	9	7			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:207169761C>T	ENST00000374423.3	+	5	895	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	170							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTGGTCAGGCTACAAATAAT	0.423													T	207169761	C	T	207169761	3	4	298	1	0	0	0	0	1	0	0	0	17700	797	28	2	519	2	ZDBF2	2	207169761	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	55843154	207169761	36029612	17	20508											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	298	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1943351	209113112	34086261	18	20509											
SP100	6672	broad.mit.edu	37	chr2	231367785	231367785	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaactttctcaggaagAaaagccaacactagaccttt	14	12	5	10	0	2	2	2	0	1	2	3	3	2	3	2	1	3	0	2	1	6	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr2:231367785A>G	ENST00000264052.5	+	20	2080	c.1725A>G	c.(1723-1725)agA>agG	p.R575R	SP100_ENST00000340126.4_Silent_p.R575R|SP100_ENST00000409112.1_Silent_p.R575R	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	575					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TCTCAGGAAGAAAAGCCAACA	0.289													G	231367785	A	G	231367785	2	3	298	1	0	0	0	0	0	0	0	1	15054	243	9	3		3	SP100	2	231367785	Silent	SNP	A	TCGA-CS-6665-01A-11D-1893-08	22254673	231367785	11831588	19	20510											
BSN	8927	broad.mit.edu	37	chr3	49691512	49691512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagttctctacacagaCgccaagtccagcccctgcct	10	7	8	16	1	1	2	0	0	1	2	3	2	2	2	5	0	4	2	5	0	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49691512C>T	ENST00000296452.4	+	5	4637	c.4523C>T	c.(4522-4524)aCg>aTg	p.T1508M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1508					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCTACACAGACGCCAAGTCCA	0.622													T	49691512	C	T	49691512	3	4	298	1	0	0	0	0	1	0	0	0	1539	536	19	1	4541	1	BSN	3	49691512	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		49691512	148330918	20	20511											
BSN	8927	broad.mit.edu	37	chr3	49694614	49694614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagacatgtcactgcaaaCggaggagcagtgggaggcca	12	5	14	10	1	2	1	2	0	0	1	2	4	2	4	1	4	3	2	1	4	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:49694614C>T	ENST00000296452.4	+	5	7739	c.7625C>T	c.(7624-7626)aCg>aTg	p.T2542M		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2542					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		TCACTGCAAACGGAGGAGCAG	0.632													T	49694614	C	T	49694614	3	4	298	1	0	0	0	0	1	0	0	0	1539	536	19	1	7643	1	BSN	3	49694614	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	3102	49694614	148327816	21	20512											
CISH	1154	broad.mit.edu	37	chr3	50645154	50645154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggtgttgcaggctgcGggcactgcttctgcgtacaa	7	9	14	11	2	1	0	0	0	1	0	1	0	1	0	0	3	5	7	0	3	2	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:50645154G>A	ENST00000443053.2	-	4	939	c.712C>T	c.(712-714)Cgc>Tgc	p.R238C	CISH_ENST00000348721.3_Missense_Mutation_p.R221C	NM_013324.5	NP_037456.5	Q9NSE2	CISH_HUMAN	cytokine inducible SH2-containing protein	221	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of cell growth	intracellular				breast(2)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		TGCAGGCTGCGGGCACTGCTT	0.622													A	50645154	G	A	50645154	3	1	298	1	0	0	0	0	1	0	0	0	3468	1116	39	1	119	1	CISH	3	50645154	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	950540	50645154	147377276	22	20513											
CACNA2D3	55799	broad.mit.edu	37	chr3	54596855	54596855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgtcaatggggtttattgGtctgaatctctaaacaaagt	12	15	9	5	0	3	1	1	1	2	0	4	1	3	1	0	3	1	1	0	3	6	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr3:54596855G>T	ENST00000474759.1	+	6	621	c.573G>T	c.(571-573)tgG>tgT	p.W191C	CACNA2D3_ENST00000415676.2_Missense_Mutation_p.W191C|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.W191C|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.W97C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	191						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GGGTTTATTGGTCTGAATCTC	0.403													T	54596855	G	T	54596855	3	4	298	1	0	0	0	0	1	0	0	0	2576	1270	44	4	595	4	CACNA2D3	3	54596855	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3951701	54596855	143425575	23	20514											
SEL1L3	23231	broad.mit.edu	37	chr4	25849135	25849135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatccaggcgcgtactaTcactgcagatacagagatgg	13	8	11	9	2	1	2	1	0	0	2	2	3	2	2	1	2	3	3	1	2	4	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:25849135T>C	ENST00000399878.3	-	2	636	c.514A>G	c.(514-516)Ata>Gta	p.I172V	SEL1L3_ENST00000502949.1_Missense_Mutation_p.I19V|SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Missense_Mutation_p.I137V	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	172						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						GCGCGTACTATCACTGCAGAT	0.408													C	25849135	T	C	25849135	3	2	298	1	0	0	0	0	1	0	0	0	14105	1435	50	3	2976	3	SEL1L3	4	25849135	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		25849135	165305141	24	20515											
PDGFRA	5156	broad.mit.edu	37	chr4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-																															aagttgcccgaggaatggagTttttggcttcaaaaaatgta																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			-	55151636	T	-	55151636	7	5	298	1	0	1	0	1	0	0	0	0	11737	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-CS-6665-01A-11D-1893-08	29302501	55151636	136002640	25	20516											
CLOCK	9575	broad.mit.edu	37	chr4	56304530	56304532	+	In_Frame_Del	DEL	CTG	CTG	-																															agctgctgctcctgggagctCtgctgctgctgctgctgcgt																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:56304530_56304532delCTG	ENST00000309964.4	-	21	2528_2530	c.2278_2280delCAG	c.(2278-2280)cagdel	p.Q760del	CLOCK_ENST00000513440.1_In_Frame_Del_p.Q760del|CLOCK_ENST00000381322.1_In_Frame_Del_p.Q760del	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	760	Gln-rich.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			cctgggagctctgctgctgctgc	0.512													-	56304532	CTG	-	56304530	7	5	298	1	0	1	0	1	0	0	0	0	3580	912	32	0	268	0	CLOCK	4	56304530	In_Frame_Del	DEL	CTG	TCGA-CS-6665-01A-11D-1893-08	1152894	56304530	134849746	26	20517											
ADAMTS3	9508	broad.mit.edu	37	chr4	73188757	73188757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatcccagcattatcatgcGcaccaggaccacatttatat	13	11	5	12	1	1	0	1	0	0	0	2	1	2	1	3	1	2	2	3	1	4	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:73188757G>A	ENST00000286657.4	-	6	955	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	RP11-373J21.1_ENST00000503918.1_RNA	NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	307	Peptidase M12B.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTATCATGCGCACCAGGACC	0.363													A	73188757	G	A	73188757	3	1	298	1	0	0	0	0	1	0	0	0	267	1087	38	1	2766	1	ADAMTS3	4	73188757	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	16884227	73188757	117965519	27	20518											
SHROOM3	57619	broad.mit.edu	37	chr4	77661578	77661578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcctgccccctcgcaccCgcacacatccagtctgggcc	5	5	9	22	3	1	0	0	0	1	0	3	0	2	0	7	1	1	2	7	1	0	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:77661578C>T	ENST00000296043.6	+	5	3205	c.2252C>T	c.(2251-2253)cCg>cTg	p.P751L		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	751					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CCCTCGCACCCGCACACATCC	0.692													T	77661578	C	T	77661578	3	4	298	1	0	0	0	0	1	0	0	0	14389	652	23	1	2270	1	SHROOM3	4	77661578	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	4472821	77661578	113492698	28	20519											
FRAS1	80144	broad.mit.edu	37	chr4	79400621	79400621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagaatcaggctctgattTtaaatctagagggatgtctg	11	14	10	6	0	5	3	1	1	4	2	5	4	5	4	0	2	0	1	0	2	5	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:79400621T>G	ENST00000264895.6	+	56	8632	c.8192T>G	c.(8191-8193)tTt>tGt	p.F2731C		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2726	Calx-beta 2.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GGCTCTGATTTTAAATCTAGA	0.463													G	79400621	T	G	79400621	3	3	298	1	0	0	0	0	1	0	0	0	6093	1841	64	5	8489	5	FRAS1	4	79400621	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	1739043	79400621	111753655	29	20520											
USP53	54532	broad.mit.edu	37	chr4	120214081	120214081	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtacacatatgaatgaTgaaagacataaagaaacatt	20	9	8	4	0	0	6	0	4	0	2	0	6	0	6	0	0	2	1	0	0	7	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:120214081T>A	ENST00000450251.1	+	15	3481	c.2937T>A	c.(2935-2937)gaT>gaA	p.D979E	USP53_ENST00000274030.6_Missense_Mutation_p.D979E			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	979					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ATATGAATGATGAAAGACATA	0.393													A	120214081	T	A	120214081	3	1	298	1	0	0	0	0	1	0	0	0	17186	1461	51	5	2995	5	USP53	4	120214081	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	40813460	120214081	70940195	30	20521											
PRDM5	11107	broad.mit.edu	37	chr4	121698363	121698363	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgtggctccggatatgaActctgagtgtaccactgctg	7	12	12	10	1	1	2	0	2	1	0	2	3	2	3	2	2	3	3	2	2	3	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr4:121698363A>C	ENST00000264808.3	-	13	1757	c.1517T>G	c.(1516-1518)gTt>gGt	p.V506G	PRDM5_ENST00000515109.1_Missense_Mutation_p.V475G|PRDM5_ENST00000428209.2_Missense_Mutation_p.V475G	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	506					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CCGGATATGAACTCTGAGTGT	0.383													C	121698363	A	C	121698363	3	2	298	1	0	0	0	0	1	0	0	0	12546	43	2	5	391	5	PRDM5	4	121698363	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	1484282	121698363	69455913	31	20522											
GMDS	2762	broad.mit.edu	37	chr6	1726688	1726688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgagatccacagtcaCgtgaactttgccggtctctt	8	13	9	11	2	2	2	1	2	1	1	4	3	3	2	2	1	3	1	2	1	2	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:1726688C>T	ENST00000380815.4	-	9	1218	c.949G>A	c.(949-951)Gtg>Atg	p.V317M	GMDS_ENST00000530927.1_Missense_Mutation_p.V287M	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	317					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		TCCACAGTCACGTGAACTTTG	0.507													T	1726688	C	T	1726688	3	4	298	1	0	0	0	0	1	0	0	0	6542	536	19	1	181	1	GMDS	6	1726688	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		1726688	169388379	32	20523											
TNXB	7148	broad.mit.edu	37	chr6	32049264	32049264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacctcattctcatcccccGcaacaggcactgcctggggc	8	8	8	17	1	2	0	2	0	1	0	4	0	3	0	4	3	3	2	4	3	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:32049264G>A	ENST00000375244.3	-	10	4124	c.3923C>T	c.(3922-3924)gCg>gTg	p.A1308V	TNXB_ENST00000375247.2_Missense_Mutation_p.A1308V			P22105	TENX_HUMAN	tenascin XB	1395	Fibronectin type-III 5.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCATCCCCCGCAACAGGCAC	0.617													A	32049264	G	A	32049264	3	1	298	1	0	0	0	0	1	0	0	0	16446	1087	38	1	10930	1	TNXB	6	32049264	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	30322576	32049264	139065803	33	20524											
GPR116	221395	broad.mit.edu	37	chr6	46826760	46826760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccctgtgttgttggcaagCctgaagttccagaagacaca	10	9	10	12	0	0	3	0	1	0	2	1	3	1	3	4	1	1	4	4	1	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:46826760C>T	ENST00000283296.7	-	17	3168	c.2880G>A	c.(2878-2880)agG>agA	p.R960R	GPR116_ENST00000265417.7_Silent_p.R960R|GPR116_ENST00000545669.1_Silent_p.R389R|GPR116_ENST00000456426.2_Silent_p.R818R|GPR116_ENST00000362015.4_Silent_p.R960R	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	960	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TGTTGGCAAGCCTGAAGTTCC	0.478													T	46826760	C	T	46826760	2	4	298	1	0	0	0	0	0	0	0	1	6687	738	26	2		2	GPR116	6	46826760	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	14777496	46826760	124288307	34	20525											
RIMS1	22999	broad.mit.edu	37	chr6	72889453	72889453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcacgactccaagagcgatCgcggtctcagacacccctaa	12	5	9	15	4	1	2	1	0	1	2	4	4	2	2	3	1	2	1	3	1	2	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:72889453C>T	ENST00000264839.7	+	5	647	c.647C>T	c.(646-648)tCg>tTg	p.S216L	RIMS1_ENST00000348717.5_Missense_Mutation_p.S216L|RIMS1_ENST00000520567.1_Missense_Mutation_p.S216L|RIMS1_ENST00000517960.1_Missense_Mutation_p.S216L|RIMS1_ENST00000518273.1_Missense_Mutation_p.S216L|RIMS1_ENST00000521978.1_Missense_Mutation_p.S216L|RIMS1_ENST00000522291.1_Missense_Mutation_p.S216L|RIMS1_ENST00000491071.2_Missense_Mutation_p.S216L			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	216					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CAAGAGCGATCGCGGTCTCAG	0.597													T	72889453	C	T	72889453	3	4	298	1	0	0	0	0	1	0	0	0	13458	893	31	1	665	1	RIMS1	6	72889453	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	26062693	72889453	98225614	35	20526											
NT5E	4907	broad.mit.edu	37	chr6	86203685	86203685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagcttttctttaatatttcTttcactttgggcagtgatct	8	20	6	7	0	4	1	1	1	3	0	4	1	4	1	0	1	1	2	0	1	3	8			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:86203685T>C	ENST00000257770.3	+	9	1737	c.1688T>C	c.(1687-1689)cTt>cCt	p.L563P	NT5E_ENST00000369651.3_Missense_Mutation_p.L513P	NM_002526.3	NP_002517.1	P21589	5NTD_HUMAN	5'-nucleotidase, ecto (CD73)	563					DNA metabolic process|purine base metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	5'-nucleotidase activity|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;0.000215)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0427)		BRCA - Breast invasive adenocarcinoma(108;0.0417)	Pentoxifylline(DB00806)	TTAATATTTCTTTCACTTTGG	0.353													C	86203685	T	C	86203685	3	2	298	1	0	0	0	0	1	0	0	0	10769	1609	56	3	1722	3	NT5E	6	86203685	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	13314232	86203685	84911382	36	20527											
HTR1E	3354	broad.mit.edu	37	chr6	87725427	87725427	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtactgggccatcacCaatgctattgaatacgccag	12	8	10	11	1	1	1	1	1	0	0	1	2	1	1	3	2	3	2	3	2	5	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:87725427C>A	ENST00000305344.5	+	2	1078	c.375C>A	c.(373-375)acC>acA	p.T125T		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GGGCCATCACCAATGCTATTG	0.562													A	87725427	C	A	87725427	2	1	298	1	0	0	0	0	0	0	0	1	7497	581	21	4		4	HTR1E	6	87725427	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1521742	87725427	83389640	37	20528											
RNGTT	8732	broad.mit.edu	37	chr6	89563379	89563379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtatttgataaatgcataCgaagatctttacgaaatgga	16	12	9	4	2	1	2	0	1	1	1	1	6	1	3	0	1	3	2	0	1	7	6			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:89563379C>T	ENST00000369485.4	-	9	1187	c.1001G>A	c.(1000-1002)cGt>cAt	p.R334H	RNGTT_ENST00000265607.6_Missense_Mutation_p.R334H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R274H|RNGTT_ENST00000369475.3_Missense_Mutation_p.R334H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	334	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		TAAATGCATACGAAGATCTTT	0.289													T	89563379	C	T	89563379	3	4	298	1	0	0	0	0	1	0	0	0	13594	536	19	1	824	1	RNGTT	6	89563379	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	1837952	89563379	81551688	38	20529											
SMPD2	6610	broad.mit.edu	37	chr6	109764076	109764076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgatgcctatcttgaaactCgggacttcaaggtgaggact	11	11	11	8	1	2	3	1	3	1	0	3	5	2	5	1	3	2	0	1	3	3	3	rs139839878		TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:109764076C>T	ENST00000258052.3	+	7	972	c.613C>T	c.(613-615)Cgg>Tgg	p.R205W		NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	205					induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|sphingomyelin metabolic process	integral to plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		TCTTGAAACTCGGGACTTCAA	0.542													T	109764076	C	T	109764076	3	4	298	1	0	0	0	0	1	0	0	0	14899	875	31	1	639	1	SMPD2	6	109764076	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	20200697	109764076	61350991	39	20530											
TMEM200A	114801	broad.mit.edu	37	chr6	130761742	130761742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaaaatccggctttatTccccatctggtttttttctt	6	18	7	10	1	2	0	0	0	2	0	4	0	4	0	3	3	0	3	3	3	3	7			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr6:130761742T>C	ENST00000392429.1	+	2	2553	c.175T>C	c.(175-177)Tcc>Ccc	p.S59P	TMEM200A_ENST00000296978.3_Missense_Mutation_p.S59P|TMEM200A_ENST00000545622.1_Missense_Mutation_p.S59P	NM_052913.2	NP_443145.1	Q86VY9	T200A_HUMAN	transmembrane protein 200A	59						integral to membrane				NS(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(30)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52				GBM - Glioblastoma multiforme(226;0.0139)|OV - Ovarian serous cystadenocarcinoma(155;0.12)		CCGGCTTTATTCCCCATCTGG	0.478													C	130761742	T	C	130761742	3	2	298	1	0	0	0	0	1	0	0	0	16223	1783	62	3	177	3	TMEM200A	6	130761742	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	20997666	130761742	40353325	40	20531											
ZNF479	90827	broad.mit.edu	37	chr7	57187713	57187713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaattaaaggctttgccaCattcttcacatgtgtagggt	11	13	9	8	0	2	0	1	0	1	0	2	0	2	0	1	2	2	3	1	2	4	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:57187713C>T	ENST00000331162.4	-	5	1679	c.1409G>A	c.(1408-1410)tGt>tAt	p.C470Y		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	470					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			GGCTTTGCCACATTCTTCACA	0.408													T	57187713	C	T	57187713	3	4	298	1	0	0	0	0	1	0	0	0	18034	478	17	2	169	2	ZNF479	7	57187713	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		57187713	101950950	41	20532											
FOXP2	93986	broad.mit.edu	37	chr7	114282537	114282537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacagtatggaagacaatgGcattaaacatggagggctag	15	8	12	6	0	1	1	1	0	0	1	1	3	1	3	0	4	1	3	0	4	6	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:114282537G>A	ENST00000393500.3	+	13	1443	c.623G>A	c.(622-624)gGc>gAc	p.G208D	FOXP2_ENST00000403559.4_Missense_Mutation_p.G300D|FOXP2_ENST00000350908.4_Missense_Mutation_p.G283D|FOXP2_ENST00000393494.2_Missense_Mutation_p.G283D|FOXP2_ENST00000360232.4_Missense_Mutation_p.G283D|FOXP2_ENST00000393489.3_Missense_Mutation_p.G191D|FOXP2_ENST00000393491.3_Missense_Mutation_p.G191D|FOXP2_ENST00000390668.3_Missense_Mutation_p.G307D|FOXP2_ENST00000393498.2_Missense_Mutation_p.G262D|FOXP2_ENST00000378237.3_Missense_Mutation_p.G283D|FOXP2_ENST00000408937.3_Missense_Mutation_p.G308D			O15409	FOXP2_HUMAN	forkhead box P2	283	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						GAAGACAATGGCATTAAACAT	0.428													A	114282537	G	A	114282537	3	1	298	1	0	0	0	0	1	0	0	0	6078	1203	42	2	1004	2	FOXP2	7	114282537	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	57094824	114282537	44856126	42	20533											
WNT2	7472	broad.mit.edu	37	chr7	116960776	116960776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcggtgacacagctgcCgctggctgctcaccaggcct	6	8	13	14	2	1	1	1	1	0	0	2	2	1	1	3	3	3	4	3	3	0	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:116960776C>T	ENST00000265441.3	-	2	454	c.155G>A	c.(154-156)cGg>cAg	p.R52Q	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	52					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		ACACAGCTGCCGCTGGCTGCT	0.597													T	116960776	C	T	116960776	3	4	298	1	0	0	0	0	1	0	0	0	17488	652	23	1	943	1	WNT2	7	116960776	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2678239	116960776	42177887	43	20534											
AKR1B10	57016	broad.mit.edu	37	chr7	134212705	134212705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccaaagccaagatgccCattgtgggcctgggcacttg	10	8	12	11	0	0	1	0	0	0	1	0	1	0	1	4	2	3	2	4	2	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr7:134212705C>T	ENST00000359579.4	+	1	362	c.42C>T	c.(40-42)ccC>ccT	p.P14P	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	14					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						CCAAGATGCCCATTGTGGGCC	0.502													T	134212705	C	T	134212705	2	4	298	1	0	0	0	0	0	0	0	1	467	581	21	2		2	AKR1B10	7	134212705	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	17251929	134212705	24925958	44	20535											
POLR3D	661	broad.mit.edu	37	chr8	22107627	22107627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttgtaccctggctgacCtgacagagggtcaggttggc	7	10	14	10	0	1	3	1	2	0	1	1	3	1	3	2	4	2	4	2	4	1	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:22107627C>A	ENST00000397802.4	+	7	1176	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	POLR3D_ENST00000306433.4_Missense_Mutation_p.L321M			P05423	RPC4_HUMAN	polymerase (RNA) III (DNA directed) polypeptide D, 44kDa	321					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	13				Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)		CCTGGCTGACCTGACAGAGGG	0.542													A	22107627	C	A	22107627	3	1	298	1	0	0	0	0	1	0	0	0	12308	680	24	4	987	4	POLR3D	8	22107627	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		22107627	124256395	45	20536											
DOCK5	80005	broad.mit.edu	37	chr8	25154057	25154057	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggttagatctggtggtgcgaGatgacaatgggaacatccta	11	10	14	6	1	1	3	0	1	1	2	2	5	2	4	1	4	2	1	1	4	4	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:25154057G>C	ENST00000276440.7	+	7	543	c.499G>C	c.(499-501)Gat>Cat	p.D167H	DOCK5_ENST00000481100.1_Missense_Mutation_p.D167H	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	167						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGTGGTGCGAGATGACAATGG	0.512													C	25154057	G	C	25154057	3	2	298	1	0	0	0	0	1	0	0	0	4729	942	33	4	525	4	DOCK5	8	25154057	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3046430	25154057	121209965	46	20537											
ANK1	286	broad.mit.edu	37	chr8	41543690	41543690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgcgttttggccttcaCggatgacccagaggttcagc	6	13	12	10	2	2	2	2	1	0	1	2	3	2	3	2	3	2	3	2	3	0	5	rs138642972	byFrequency	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:41543690C>T	ENST00000396942.1	-	36	4453	c.4370G>A	c.(4369-4371)cGt>cAt	p.R1457H	ANK1_ENST00000396945.1_Missense_Mutation_p.R1457H|ANK1_ENST00000265709.8_Missense_Mutation_p.R1498H|ANK1_ENST00000289734.7_Missense_Mutation_p.R1457H|ANK1_ENST00000352337.4_Missense_Mutation_p.R1457H|ANK1_ENST00000379758.2_Missense_Mutation_p.R1457H|ANK1_ENST00000347528.4_Missense_Mutation_p.R1457H			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1457	55 kDa regulatory domain.|Death.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	p.R1457H(1)		breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTGGCCTTCACGGATGACCCA	0.522													T	41543690	C	T	41543690	3	4	298	1	0	0	0	0	1	0	0	0	620	536	19	1	1629	1	ANK1	8	41543690	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	16389633	41543690	104820332	47	20538											
CLVS1	157807	broad.mit.edu	37	chr8	62371030	62371030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgactatactcacacatcCtataatgcaatgcacgtgaa	16	10	5	10	1	1	2	1	2	0	0	2	2	2	2	1	0	3	2	1	0	7	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr8:62371030C>T	ENST00000519846.1	+	6	1378	c.906C>T	c.(904-906)tcC>tcT	p.S302S	CLVS1_ENST00000518592.1_Silent_p.S23S|CLVS1_ENST00000325897.4_Silent_p.S302S			Q8IUQ0	CLVS1_HUMAN	clavesin 1	302					lysosome organization	clathrin-coated vesicle|early endosome membrane|trans-Golgi network	phosphatidylinositol-3,5-bisphosphate binding|transporter activity			endometrium(3)|kidney(4)|large_intestine(4)|lung(21)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CTCACACATCCTATAATGCAA	0.502													T	62371030	C	T	62371030	2	4	298	1	0	0	0	0	0	0	0	1	3602	668	24	2		2	CLVS1	8	62371030	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	20827340	62371030	83992992	48	20539											
COL5A1	1289	broad.mit.edu	37	chr9	137591840	137591840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggtctccatctacaaCgagcagggtatccagcagat	10	10	9	12	1	2	1	0	0	2	1	5	2	4	1	3	2	4	3	3	2	3	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													T	137591840	C	T	137591840	2	4	298	1	0	0	0	0	0	0	0	1	3727	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08		137591840	3621591	49	20540											
FAM21B	55747	broad.mit.edu	37	chr10	47909193	47909194	+	Frame_Shift_Del	DEL	CC	CC	-																															aagaggataacttattcacaCcccccaagctgaccgacgag																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr10:47909193_47909194delCC	ENST00000358474.5	+	10	763_764	c.763_764delCC	c.(763-765)cccfs	p.P256fs		NM_018232.1	NP_060702.1	Q5SNT6	FA21B_HUMAN	family with sequence similarity 21, member B	256					retrograde transport, endosome to Golgi	early endosome membrane|WASH complex				endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						CTTATTCACACCCCCCAAGCTG	0.515													-	47909194	CC	-	47909193	7	5	298	1	0	1	0	1	0	0	0	0	5588	507	18	0	801	0	FAM21B	10	47909193	Frame_Shift_Del	DEL	CC	TCGA-CS-6665-01A-11D-1893-08		47909193	87625554	50	20541											
FOLH1	2346	broad.mit.edu	37	chr11	49207240	49207240	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttgctgggtaacctggTgtgagagggtctcctgcacc	6	11	13	11	0	1	1	0	1	1	1	2	2	1	1	4	3	3	3	4	3	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:49207240T>C	ENST00000340334.7	-	7	1130	c.762A>G	c.(760-762)acA>acG	p.T254T	FOLH1_ENST00000533034.1_Silent_p.T254T|FOLH1_ENST00000256999.2_Silent_p.T269T|FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Silent_p.T269T	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	269					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGTAACCTGGTGTGAGAGGGT	0.428													C	49207240	T	C	49207240	2	2	298	1	0	0	0	0	0	0	0	1	6028	1683	59	3		3	FOLH1	11	49207240	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08		49207240	85799276	51	20542											
OR5D14	219436	broad.mit.edu	37	chr11	55563532	55563532	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctttgttatgctctccgGttaaacttctctggacctaa	7	16	6	12	1	2	0	0	0	2	0	5	1	3	1	3	2	2	3	3	2	4	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:55563532G>T	ENST00000335605.1	+	1	501	c.501G>T	c.(499-501)cgG>cgT	p.R167R		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				ATGCTCTCCGGTTAAACTTCT	0.502													T	55563532	G	T	55563532	2	4	298	1	0	0	0	0	0	0	0	1	11231	1248	44	4		4	OR5D14	11	55563532	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6356292	55563532	79442984	52	20543											
OR9G1	390174	broad.mit.edu	37	chr11	56468417	56468417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttgcttcccttggtggAgctggcctgtggcgagaagg	5	12	16	8	1	0	2	0	1	0	1	1	4	1	3	2	5	2	2	2	5	1	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:56468417A>G	ENST00000312153.1	+	1	554	c.554A>G	c.(553-555)gAg>gGg	p.E185G		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CCCTTGGTGGAGCTGGCCTGT	0.463													G	56468417	A	G	56468417	3	3	298	1	0	0	0	0	1	0	0	0	11326	304	11	3	556	3	OR9G1	11	56468417	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	904885	56468417	78538099	53	20544											
APOA1	335	broad.mit.edu	37	chr11	116707048	116707048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccaggttatcccagaactCctgggtcacagggccgagct	8	9	11	13	1	1	1	1	0	0	1	4	2	4	1	4	3	2	2	4	3	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr11:116707048C>T	ENST00000236850.4	-	4	645	c.280G>A	c.(280-282)Gag>Aag	p.E94K	APOA1_ENST00000375320.1_Missense_Mutation_p.E94K|APOA1_ENST00000375329.2_Missense_Mutation_p.E72K|AP006216.12_ENST00000444200.1_RNA|APOA1_ENST00000375323.1_Missense_Mutation_p.E94K|APOA1_ENST00000359492.2_Missense_Mutation_p.E94K	NM_000039.1	NP_000030.1	P02647	APOA1_HUMAN	apolipoprotein A-I	94	10 X approximate tandem repeats.				Cdc42 protein signal transduction|cholesterol efflux|cholesterol homeostasis|cholesterol import|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|negative regulation of cytokine secretion involved in immune response|negative regulation of interleukin-1 beta secretion|negative regulation of very-low-density lipoprotein particle remodeling|phosphatidylcholine biosynthetic process|phospholipid efflux|platelet activation|platelet degranulation|positive regulation of cholesterol esterification|positive regulation of hydrolase activity|protein stabilization|reverse cholesterol transport	endocytic vesicle|endoplasmic reticulum lumen|plasma membrane|spherical high-density lipoprotein particle|stored secretory granule|very-low-density lipoprotein particle	apolipoprotein A-I receptor binding|beta-amyloid binding|cholesterol binding|cholesterol transporter activity|enzyme binding|high-density lipoprotein particle receptor binding|identical protein binding|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding			cervix(1)|endometrium(1)|lung(4)|prostate(1)|skin(2)	9	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.59e-05)|all cancers(92;0.000162)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TCCCAGAACTCCTGGGTCACA	0.592													T	116707048	C	T	116707048	3	4	298	1	0	0	0	0	1	0	0	0	783	864	30	2	527	2	APOA1	11	116707048	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	60238631	116707048	18299468	54	20545											
IRAK3	11213	broad.mit.edu	37	chr12	66638280	66638280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagtgcaaacatcctttTggatgatcagtttcaaccca	11	15	6	9	0	2	1	2	1	0	0	3	2	3	2	2	1	3	2	2	1	3	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:66638280T>C	ENST00000261233.4	+	9	1323	c.902T>C	c.(901-903)tTg>tCg	p.L301S	IRAK3_ENST00000457197.2_Missense_Mutation_p.L240S	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	301	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		AACATCCTTTTGGATGATCAG	0.393													C	66638280	T	C	66638280	3	2	298	1	0	0	0	0	1	0	0	0	7882	1821	63	3	936	3	IRAK3	12	66638280	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		66638280	67213615	55	20546											
KERA	11081	broad.mit.edu	37	chr12	91449807	91449807	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatggcttttcaggaatggtTtctatcaggttgttttgaag	9	17	11	4	0	3	1	2	1	1	0	3	2	3	2	0	4	0	4	0	4	4	7			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:91449807T>C	ENST00000266719.3	-	2	499	c.252A>G	c.(250-252)gaA>gaG	p.E84E		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	84					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAGGAATGGTTTCTATCAGGT	0.348													C	91449807	T	C	91449807	2	2	298	1	0	0	0	0	0	0	0	1	8201	1838	64	3		3	KERA	12	91449807	Silent	SNP	T	TCGA-CS-6665-01A-11D-1893-08	24811527	91449807	42402088	56	20547											
TMCC3	57458	broad.mit.edu	37	chr12	94975589	94975589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccaaacgactggtttccGttactgtcggccgagcctga	7	9	11	14	4	0	1	0	1	0	0	2	3	1	1	5	2	3	2	5	2	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr12:94975589G>A	ENST00000261226.4	-	2	935	c.804C>T	c.(802-804)aaC>aaT	p.N268N	TMCC3_ENST00000551457.1_Silent_p.N237N	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	268						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						ACTGGTTTCCGTTACTGTCGG	0.592													A	94975589	G	A	94975589	2	1	298	1	0	0	0	0	0	0	0	1	16094	1136	40	1		1	TMCC3	12	94975589	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	3525782	94975589	38876306	57	20548											
ATP8A2	51761	broad.mit.edu	37	chr13	26411309	26411309	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccctgcagattttcacCgctttgccgcccttcactct	4	15	5	17	2	4	1	2	0	2	1	5	1	4	1	4	0	2	2	4	0	0	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:26411309C>A	ENST00000381655.2	+	29	2905	c.2763C>A	c.(2761-2763)acC>acA	p.T921T	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.T856T	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	881					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGATTTTCACCGCTTTGCCGC	0.498													A	26411309	C	A	26411309	2	1	298	1	0	0	0	0	0	0	0	1	1198	639	23	4		4	ATP8A2	13	26411309	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08		26411309	88758569	58	20549											
MYO16	23026	broad.mit.edu	37	chr13	109318372	109318372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaagcctactatgagcGcgagaaggcttttcagaagc	14	8	10	9	2	2	3	2	1	0	2	2	4	2	3	1	1	4	1	1	1	6	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr13:109318372G>A	ENST00000356711.2	+	2	227	c.101G>A	c.(100-102)cGc>cAc	p.R34H	MYO16_ENST00000251041.5_Missense_Mutation_p.R34H|MYO16_ENST00000357550.2_Missense_Mutation_p.R34H	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	34					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	p.R34H(2)		NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			TACTATGAGCGCGAGAAGGCT	0.527													A	109318372	G	A	109318372	3	1	298	1	0	0	0	0	1	0	0	0	10140	1087	38	1	103	1	MYO16	13	109318372	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	82907063	109318372	5851506	59	20550											
CASC5	57082	broad.mit.edu	37	chr15	40914116	40914116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatacagcagagcctgTcaaatcctttgtctatttca	14	12	6	9	0	3	2	2	0	1	2	4	2	4	2	2	0	3	1	2	0	5	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:40914116T>C	ENST00000346991.5	+	11	2122	c.1732T>C	c.(1732-1734)Tca>Cca	p.S578P	CASC5_ENST00000399668.2_Missense_Mutation_p.S552P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	578	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GCAGAGCCTGTCAAATCCTTT	0.358													C	40914116	T	C	40914116	3	2	298	1	0	0	0	0	1	0	0	0	2689	1667	58	3	1770	3	CASC5	15	40914116	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08		40914116	61617276	60	20551											
TUBGCP4	27229	broad.mit.edu	37	chr15	43695930	43695930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgtcacagtttttgttCgctggtcagtcagaacctag	7	15	9	10	1	4	1	3	0	1	1	6	1	4	1	1	1	1	3	1	1	2	4	rs149549954	by1000genomes	TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:43695930C>T	ENST00000564079.1	+	16	2021	c.1781C>T	c.(1780-1782)tCg>tTg	p.S594L	TUBGCP4_ENST00000399460.3_3'UTR|TUBGCP4_ENST00000260383.7_Missense_Mutation_p.S595L	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4	595					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		AGTTTTTGTTCGCTGGTCAGT	0.527													T	43695930	C	T	43695930	3	4	298	1	0	0	0	0	1	0	0	0	16870	893	31	1	1843	1	TUBGCP4	15	43695930	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2781814	43695930	58835462	61	20552											
AP4E1	23431	broad.mit.edu	37	chr15	51260560	51260560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaacgccaggaggaaaagcTttctcaggaaaaaggtaatt	16	8	10	7	1	2	0	2	0	1	0	3	3	2	3	1	4	2	2	1	4	6	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr15:51260560T>G	ENST00000261842.5	+	15	2058	c.1952T>G	c.(1951-1953)cTt>cGt	p.L651R	AP4E1_ENST00000560508.1_Missense_Mutation_p.L576R	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	651					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		GAGGAAAAGCTTTCTCAGGAA	0.373													G	51260560	T	G	51260560	3	3	298	1	0	0	0	0	1	0	0	0	754	1609	56	5	2010	5	AP4E1	15	51260560	Missense_Mutation	SNP	T	TCGA-CS-6665-01A-11D-1893-08	7564630	51260560	51270832	62	20553											
ACSM1	116285	broad.mit.edu	37	chr16	20635526	20635526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggtcaggacaataaaGgccttcaccacctgcagaat	12	8	11	10	0	2	1	2	0	0	1	2	2	2	2	3	4	1	1	3	4	4	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:20635526G>A	ENST00000219151.4	-	13	1702	c.492C>T	c.(490-492)gcC>gcT	p.A164A	ACSM1_ENST00000520010.1_Silent_p.A513A|ACSM1_ENST00000307493.4_Silent_p.A513A			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	513					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GGACAATAAAGGCCTTCACCA	0.473													A	20635526	G	A	20635526	2	1	298	1	0	0	0	0	0	0	0	1	182	987	35	2		2	ACSM1	16	20635526	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08		20635526	69719227	63	20554											
ADAMTS18	170692	broad.mit.edu	37	chr16	77401350	77401350	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatacatttcttgcgtcGtccacaaaaatgctgctttt	10	16	5	10	2	1	0	0	0	1	0	3	0	2	0	1	0	5	2	1	0	4	6			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr16:77401350G>A	ENST00000282849.5	-	4	1184	c.766C>T	c.(766-768)Cga>Tga	p.R256*		NM_199355.2	NP_955387.1	Q8TE60	ATS18_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 18	256					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(26)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(19)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	118						TTCTTGCGTCGTCCACAAAAA	0.443													A	77401350	G	A	77401350	4	1	298	1	0	0	0	0	0	1	0	0	263	1153	40	1	2979	1	ADAMTS18	16	77401350	Nonsense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	56765824	77401350	12953403	64	20555											
TP53	7157	broad.mit.edu	37	chr17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-																															ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7577105delG	ENST00000420246.2	-	8	965	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552		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)			-	7577105	G	-	7577105	7	5	298	1	0	1	0	1	0	0	0	0	16482	1000	35	0	453	0	TP53	17	7577105	Frame_Shift_Del	DEL	G	TCGA-CS-6665-01A-11D-1893-08		7577105	73618105	65	20556											
DNAH2	146754	broad.mit.edu	37	chr17	7643864	7643864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaggcttgcctcccgCgaggtgcggctgccccgcgg	3	7	14	17	5	0	0	0	0	0	0	2	1	2	0	5	4	3	2	5	4	0	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:7643864C>T	ENST00000572933.1	+	10	2963	c.1503C>T	c.(1501-1503)cgC>cgT	p.R501R	DNAH2_ENST00000570791.1_Silent_p.R583R|DNAH2_ENST00000082259.3_Silent_p.R583R|DNAH2_ENST00000389173.2_Silent_p.R501R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	501	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCTCCCGCGAGGTGCGGC	0.672													T	7643864	C	T	7643864	2	4	298	1	0	0	0	0	0	0	0	1	4641	755	27	1		1	DNAH2	17	7643864	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	66759	7643864	73551346	66	20557											
DNAJC7	7266	broad.mit.edu	37	chr17	40140910	40140910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctttgctttgagtgctttgGcattctacagaaaaaagcaa	12	14	8	7	0	2	2	0	1	2	1	2	2	2	2	0	1	4	4	0	1	5	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:40140910G>A	ENST00000457167.4	-	8	994	c.758C>T	c.(757-759)gCc>gTc	p.A253V	DNAJC7_ENST00000426588.3_Missense_Mutation_p.A197V|DNAJC7_ENST00000316603.7_Missense_Mutation_p.A197V	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	253					chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				GAGTGCTTTGGCATTCTACAG	0.423													A	40140910	G	A	40140910	3	1	298	1	0	0	0	0	1	0	0	0	4693	1203	42	2	754	2	DNAJC7	17	40140910	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	32497046	40140910	41054300	67	20558											
CSHL1	1444	broad.mit.edu	37	chr17	61987091	61987091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctagaagccacagctgccctCcacagagcggcactgcacca	11	4	9	17	1	0	2	0	0	0	2	1	2	1	2	4	1	5	3	4	1	2	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:61987091C>T	ENST00000259003.10	-	5	607	c.463G>A	c.(463-465)Gag>Aag	p.E155K	CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000309894.5_Missense_Mutation_p.E217K|CSHL1_ENST00000438387.2_Missense_Mutation_p.E134K|CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000346606.6_Missense_Mutation_p.E123K			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	217						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						CAGCTGCCCTCCACAGAGCGG	0.632													T	61987091	C	T	61987091	3	4	298	1	0	0	0	0	1	0	0	0	3975	864	30	2	23	2	CSHL1	17	61987091	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	21846181	61987091	19208119	68	20559											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967757	76967757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaggaggaggtgctcttCgagctgttggtgtccagggc	6	9	19	7	1	1	0	0	0	1	0	3	4	2	3	1	6	2	3	1	6	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr17:76967757C>T	ENST00000262776.3	-	6	1967	c.1659G>A	c.(1657-1659)tcG>tcA	p.S553S	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	553					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity	p.S553S(1)		NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			AGGTGCTCTTCGAGCTGTTGG	0.612											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	76967757	C	T	76967757	2	4	298	1	0	0	0	0	0	0	0	1	8803	871	31	1		1	LGALS3BP	17	76967757	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	14980666	76967757	4227453	69	20560											
EMILIN2	84034	broad.mit.edu	37	chr18	2891806	2891806	+	Frame_Shift_Del	DEL	C	C	-																															tgctgaacatccagggaaagCctcatgggatggaaggtgcc																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:2891806delC	ENST00000254528.3	+	4	1840	c.1681delC	c.(1681-1683)cctfs	p.P561fs		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	561					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAGGGAAAGCCTCATGGGAT	0.502													-	2891806	C	-	2891806	7	5	298	1	0	1	0	1	0	0	0	0	5135	739	26	0	1695	0	EMILIN2	18	2891806	Frame_Shift_Del	DEL	C	TCGA-CS-6665-01A-11D-1893-08		2891806	75185442	70	20561											
LAMA3	3909	broad.mit.edu	37	chr18	21489195	21489195	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagctgttgcccttgggaaAcatctctgacaacatggaca	12	9	9	11	0	1	1	0	1	1	0	2	3	1	3	1	2	4	2	1	2	2	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:21489195A>G	ENST00000313654.9	+	55	7335	c.7094A>G	c.(7093-7095)aAc>aGc	p.N2365S	LAMA3_ENST00000399516.3_Missense_Mutation_p.N2309S|LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.N700S|LAMA3_ENST00000269217.6_Missense_Mutation_p.N756S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2365	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCTTGGGAAACATCTCTGAC	0.453													G	21489195	A	G	21489195	3	3	298	1	0	0	0	0	1	0	0	0	8666	43	2	3	7487	3	LAMA3	18	21489195	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	18597389	21489195	56588053	71	20562											
SERPINB11	89778	broad.mit.edu	37	chr18	61387343	61387343	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaggacaatggcaaaataAatttcaagtaagagagacag	21	6	9	5	0	1	2	1	0	0	2	1	4	1	3	0	2	0	2	0	2	8	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr18:61387343A>T	ENST00000544088.1	+	0	634				SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGGCAAAATAAATTTCAAGTA	0.348													T	61387343	A	T	61387343	1	4	298	0	1	0	0	0	0	0	0	0	14191	14	1	5		5	SERPINB11	18	61387343	RNA	SNP	A	TCGA-CS-6665-01A-11D-1893-08	39898148	61387343	16689905	72	20563											
S1PR2	9294	broad.mit.edu	37	chr19	10334891	10334891	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaccgtcttgagcaGggctagcgtctgcggggcgg	5	8	19	9	4	2	2	0	2	2	0	2	3	2	2	1	5	3	2	1	5	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:10334891G>A	ENST00000590320.1	-	2	801	c.691C>T	c.(691-693)Ctg>Ttg	p.L231L		NM_004230.3	NP_004221.3	O95136	S1PR2_HUMAN	sphingosine-1-phosphate receptor 2	231					activation of MAPK activity|positive regulation of cell proliferation	integral to membrane|plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GTCTTGAGCAGGGCTAGCGTC	0.617													A	10334891	G	A	10334891	2	1	298	1	0	0	0	0	0	0	0	1	13885	991	35	2		2	S1PR2	19	10334891	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08		10334891	48794092	73	20564											
ZNF585B	92285	broad.mit.edu	37	chr19	37676803	37676803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcatactgtctctctcCagtgtgaattttctgatgta	8	17	7	9	0	4	2	1	2	3	0	6	2	4	2	1	0	1	2	1	0	3	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:37676803C>T	ENST00000532828.2	-	5	1887	c.1636G>A	c.(1636-1638)Gga>Aga	p.G546R	ZNF585B_ENST00000531805.1_Missense_Mutation_p.G491R|ZNF585B_ENST00000527838.1_3'UTR|CTC-454I21.3_ENST00000585860.2_Intron|ZNF585B_ENST00000312908.5_Missense_Mutation_p.G134R	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTCTCTCTCCAGTGTGAATT	0.383													T	37676803	C	T	37676803	3	4	298	1	0	0	0	0	1	0	0	0	18119	603	21	2	677	2	ZNF585B	19	37676803	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	27341912	37676803	21452180	74	20565											
FCGBP	8857	broad.mit.edu	37	chr19	40368357	40368357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccccagcggcctggcaggCggccacgtaggaagccagag	10	2	15	14	3	0	1	0	0	0	1	0	2	0	2	5	5	3	2	5	5	3	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:40368357C>T	ENST00000221347.6	-	28	12998	c.12991G>A	c.(12991-12993)Gcc>Acc	p.A4331T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4331						extracellular region	protein binding	p.A4331T(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCCTGGCAGGCGGCCACGTAG	0.647													T	40368357	C	T	40368357	3	4	298	1	0	0	0	0	1	0	0	0	5827	768	27	1	3262	1	FCGBP	19	40368357	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	2691554	40368357	18760626	75	20566											
NLRP12	91662	broad.mit.edu	37	chr19	54299148	54299148	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgcagccaggatggctcagCcgcttgcaaagcagtcggac	9	7	13	12	2	1	0	1	0	0	0	2	2	1	2	2	3	5	5	2	3	1	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr19:54299148C>G	ENST00000324134.6	-	9	3231	c.3063G>C	c.(3061-3063)cgG>cgC	p.R1021R	NLRP12_ENST00000535162.1_Intron|NLRP12_ENST00000345770.5_Intron|NLRP12_ENST00000354278.3_Intron|NLRP12_ENST00000391772.1_Intron|NLRP12_ENST00000391773.1_Silent_p.R1022R|NLRP12_ENST00000391775.3_Silent_p.R964R|NLRP12_ENST00000351894.4_Silent_p.R909R	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	1021					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GATGGCTCAGCCGCTTGCAAA	0.557													G	54299148	C	G	54299148	2	3	298	1	0	0	0	0	0	0	0	1	10550	726	26	4		4	NLRP12	19	54299148	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	13930791	54299148	4829835	76	20567											
PCSK2	5126	broad.mit.edu	37	chr20	17446133	17446133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgccatggtgaaaatGgctaaagactggaaaaccgt	14	7	13	7	1	0	2	0	1	0	1	0	3	0	3	2	4	2	2	2	4	6	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr20:17446133G>T	ENST00000262545.2	+	11	1680	c.1365G>T	c.(1363-1365)atG>atT	p.M455I	PCSK2_ENST00000377899.1_Missense_Mutation_p.M436I|PCSK2_ENST00000536609.1_Missense_Mutation_p.M420I|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	455					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGTGAAAATGGCTAAAGACT	0.567													T	17446133	G	T	17446133	3	4	298	1	0	0	0	0	1	0	0	0	11677	1348	47	4	1407	4	PCSK2	20	17446133	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08		17446133	45579387	77	20568											
CYTH4	27128	broad.mit.edu	37	chr22	37705324	37705326	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcaatgacctcactcacacCttcttcaatccagaccggga																										TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chr22:37705324_37705326delCTT	ENST00000248901.6	+	9	955_957	c.768_770delCTT	c.(766-771)accttc>acc	p.F258del		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	258					regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TCACTCACACCTTCTTCAATCCA	0.567													-	37705326	CTT	-	37705324	7	5	298	1	0	1	0	1	0	0	0	0	4239	668	24	0	802	0	CYTH4	22	37705324	In_Frame_Del	DEL	CTT	TCGA-CS-6665-01A-11D-1893-08		37705324	13599242	78	20569											
GYG2	8908	broad.mit.edu	37	chrX	2799186	2799186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagtgggaggaaggcCgtatcgactacatggggaag	12	5	19	5	2	0	0	0	0	0	0	1	6	0	5	1	7	1	1	1	7	5	2			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:2799186C>T	ENST00000381163.3	+	12	1720	c.1438C>T	c.(1438-1440)Cgt>Tgt	p.R480C	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000398806.3_Missense_Mutation_p.R449C|GYG2_ENST00000338623.5_Missense_Mutation_p.R444C|GYG2_ENST00000542787.1_Missense_Mutation_p.R409C	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	480					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGAGGAAGGCCGTATCGACTA	0.572													T	2799186	C	T	2799186	3	4	298	1	0	0	0	0	1	0	0	0	6961	652	23	1	1480	1	GYG2	23	2799186	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08		2799186	152471374	79	20570											
PRPS2	5634	broad.mit.edu	37	chrX	12838861	12838861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatgccgcctttgaggCtgttgtcgtcacaaacacaa	13	10	8	10	2	1	1	1	1	0	0	2	1	1	1	2	1	2	2	2	1	4	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:12838861C>T	ENST00000380668.5	+	6	931	c.803C>T	c.(802-804)gCt>gTt	p.A268V	PRPS2_ENST00000398491.2_Missense_Mutation_p.A271V	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	268					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						GCCTTTGAGGCTGTTGTCGTC	0.483													T	12838861	C	T	12838861	3	4	298	1	0	0	0	0	1	0	0	0	12666	797	28	2	834	2	PRPS2	23	12838861	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	10039675	12838861	142431699	80	20571											
RS1	6247	broad.mit.edu	37	chrX	18660177	18660177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggatggcaatgcggaCgtgccagcccagcgggatga	9	5	15	12	4	0	1	0	1	0	0	1	4	1	4	3	4	4	1	3	4	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:18660177C>T	ENST00000379984.3	-	6	662	c.622G>A	c.(622-624)Gtc>Atc	p.V208I	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	208	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GCAATGCGGACGTGCCAGCCC	0.657													T	18660177	C	T	18660177	3	4	298	1	0	0	0	0	1	0	0	0	13784	536	19	1	56	1	RS1	23	18660177	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	5821316	18660177	136610383	81	20572											
POLA1	5422	broad.mit.edu	37	chrX	24830876	24830876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaagtacgctgctctGgttgttgagccaacgtcgga	12	9	12	8	3	1	2	0	1	1	1	2	3	1	3	1	2	4	5	1	2	5	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:24830876G>A	ENST00000379068.3	+	29	3235	c.3192G>A	c.(3190-3192)ctG>ctA	p.L1064L	POLA1_ENST00000379059.3_Silent_p.L1058L			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1058					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACGCTGCTCTGGTTGTTGAGC	0.393													A	24830876	G	A	24830876	2	1	298	1	0	0	0	0	0	0	0	1	12264	1335	47	2		2	POLA1	23	24830876	Silent	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6170699	24830876	130439684	82	20573											
FAM47B	170062	broad.mit.edu	37	chrX	34962025	34962025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagaagaagctggaagaCgcacgggctcgttgtgaggg	10	7	17	7	3	1	4	0	2	1	3	2	6	1	5	0	3	1	4	0	3	3	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:34962025C>T	ENST00000329357.5	+	1	1113	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	359								p.D359D(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGCTGGAAGACGCACGGGCTC	0.537													T	34962025	C	T	34962025	2	4	298	1	0	0	0	0	0	0	0	1	5621	535	19	1		1	FAM47B	23	34962025	Silent	SNP	C	TCGA-CS-6665-01A-11D-1893-08	10131149	34962025	120308535	83	20574											
CFP	5199	broad.mit.edu	37	chrX	47487019	47487019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaggctcccagggccccCagccagaccagccgcccatc	9	2	10	20	1	0	1	0	0	0	1	2	1	1	1	7	2	3	2	7	2	1	0			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:47487019C>A	ENST00000247153.3	-	5	666	c.425G>T	c.(424-426)tGg>tTg	p.W142L	CFP_ENST00000396992.3_Missense_Mutation_p.W142L|CFP_ENST00000377005.2_Missense_Mutation_p.W142L	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	142	TSP type-1 2.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						CCAGGGCCCCCAGCCAGACCA	0.632													A	47487019	C	A	47487019	3	1	298	1	0	0	0	0	1	0	0	0	3323	595	21	4	1008	4	CFP	23	47487019	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	12524994	47487019	107783541	84	20575											
FAM120C	54954	broad.mit.edu	37	chrX	54209051	54209051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcccacgatcagttgcGctgtctgccgctcggcctgg	3	10	13	15	5	2	0	1	0	1	0	4	1	3	0	3	2	2	3	3	2	0	1			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:54209051G>A	ENST00000375180.2	-	1	637	c.581C>T	c.(580-582)gCg>gTg	p.A194V	FAM120C_ENST00000328235.4_Missense_Mutation_p.A194V|FAM120C_ENST00000477084.1_Missense_Mutation_p.A194V|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	194										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GATCAGTTGCGCTGTCTGCCG	0.721													A	54209051	G	A	54209051	3	1	298	1	0	0	0	0	1	0	0	0	5463	1087	38	1	2795	1	FAM120C	23	54209051	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	6722032	54209051	101061509	85	20576											
USP51	158880	broad.mit.edu	37	chrX	55514135	55514135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtacatagcatgaaaaagcGaagacatttcacagaccaga	19	6	8	8	1	1	4	1	1	0	3	1	5	1	4	1	0	3	2	1	0	5	3			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:55514135G>A	ENST00000500968.3	-	2	1320	c.1238C>T	c.(1237-1239)tCg>tTg	p.S413L	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	413					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATGAAAAAGCGAAGACATTTC	0.438													A	55514135	G	A	55514135	3	1	298	1	0	0	0	0	1	0	0	0	17185	1059	37	1	901	1	USP51	23	55514135	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	1305084	55514135	99756425	86	20577											
KIAA2022	340533	broad.mit.edu	37	chrX	73963361	73963361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagactctcgcttggggcagGtagtaaagacgctgggaaaa	12	8	14	7	2	1	2	0	0	1	2	2	3	1	3	0	4	0	5	0	4	6	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:73963361G>T	ENST00000055682.6	-	3	1642	c.1031C>A	c.(1030-1032)aCc>aAc	p.T344N		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CTTGGGGCAGGTAGTAAAGAC	0.463													T	73963361	G	T	73963361	3	4	298	1	0	0	0	0	1	0	0	0	8327	1261	44	4	3527	4	KIAA2022	23	73963361	Missense_Mutation	SNP	G	TCGA-CS-6665-01A-11D-1893-08	18449226	73963361	81307199	87	20578											
AMMECR1	9949	broad.mit.edu	37	chrX	109459855	109459855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggaaaacggctatctttaAgggcactgttaaaaacaaag	16	8	11	6	1	1	0	0	0	1	0	1	1	1	1	0	4	2	3	0	4	8	4			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:109459855A>G	ENST00000262844.5	-	3	757	c.590T>C	c.(589-591)cTt>cCt	p.L197P	AMMECR1_ENST00000372059.2_Missense_Mutation_p.L160P|AMMECR1_ENST00000372057.1_Missense_Mutation_p.L74P	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	197	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCTATCTTTAAGGGCACTGTT	0.378													G	109459855	A	G	109459855	3	3	298	1	0	0	0	0	1	0	0	0	578	72	3	3	427	3	AMMECR1	23	109459855	Missense_Mutation	SNP	A	TCGA-CS-6665-01A-11D-1893-08	35496494	109459855	45810705	88	20579											
GPC3	2719	broad.mit.edu	37	chrX	132887606	132887606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctccatgtcatagattCtgtacatgccattcacaagt	10	14	6	11	1	4	1	2	0	2	1	5	1	4	1	2	0	2	2	2	0	3	5			TCGA-CS-6665-01A-11D-1893-08	TCGA-CS-6665-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	682d5b5e-3569-403c-b31c-887bd0aa26a5	c4574016-bc61-4fb5-92c6-efccec8cdc5d	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000543339.1_Missense_Mutation_p.R258I|GPC3_ENST00000394299.2_Missense_Mutation_p.R312I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				A	132887606	C	A	132887606	3	1	298	1	0	0	0	0	1	0	0	0	6653	913	32	4	904	4	GPC3	23	132887606	Missense_Mutation	SNP	C	TCGA-CS-6665-01A-11D-1893-08	23427751	132887606	22382954	89	20580											
SPEN	23013	broad.mit.edu	37	chr1	16258985	16258985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagatctcgaaactccAggttagcagtggacaaatct	14	8	11	8	1	2	1	0	0	2	1	4	5	3	3	1	3	2	2	1	3	4	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:16258985A>G	ENST00000375759.3	+	11	6454	c.6250A>G	c.(6250-6252)Agg>Ggg	p.R2084G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2084					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TCGAAACTCCAGGTTAGCAGT	0.512													G	16258985	A	G	16258985	3	3	299	1	0	0	0	0	1	0	0	0	15134	179	7	3	6292	3	SPEN	1	16258985	Missense_Mutation	SNP	A	TCGA-CS-6666-01A-11D-1893-08		16258985	232991636	1	20581											
HIST2H3D	653604	broad.mit.edu	37	chr1	149785210	149785210	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgccgccggtcgacttGcgggcagtctgcttagtacg	4	10	14	13	5	1	0	0	0	1	0	2	1	1	0	3	2	4	3	3	2	2	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:149785210G>C	ENST00000331491.1	-	1	26	c.27C>G	c.(25-27)cgC>cgG	p.R9R		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	9					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						CGGTCGACTTGCGGGCAGTCT	0.602													C	149785210	G	C	149785210	2	2	299	1	0	0	0	0	0	0	0	1	7236	1306	46	4		4	HIST2H3D	1	149785210	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	133526225	149785210	99465411	2	20582											
HRNR	388697	broad.mit.edu	37	chr1	152192979	152192979	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacgtagatccatgttGtccctggctagaggagtgac	8	10	12	11	1	0	4	0	2	0	2	2	5	2	5	3	2	0	3	3	2	2	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:152192979G>A	ENST00000368801.2	-	3	1201	c.1126C>T	c.(1126-1128)Caa>Taa	p.Q376*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	376			Q -> R (in dbSNP:rs6587649).		keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCATGTTGTCCCTGGCTA	0.557													A	152192979	G	A	152192979	4	1	299	1	0	0	0	0	0	1	0	0	7414	1386	48	2	7430	2	HRNR	1	152192979	Nonsense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2407769	152192979	97057642	3	20583											
ASTN1	460	broad.mit.edu	37	chr1	176934329	176934329	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagagggctgctctcccAaaaccaggtcaaagcctcgc	11	7	9	14	1	3	1	2	0	1	1	5	1	3	1	3	2	3	2	3	2	4	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:176934329A>C	ENST00000367654.3	-	9	1803	c.1592T>G	c.(1591-1593)tTg>tGg	p.L531W	ASTN1_ENST00000361833.2_Missense_Mutation_p.L523W|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000367657.3_Missense_Mutation_p.L523W|ASTN1_ENST00000424564.2_Missense_Mutation_p.L523W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CTGCTCTCCCAAAACCAGGTC	0.423													C	176934329	A	C	176934329	3	2	299	1	0	0	0	0	1	0	0	0	1069	131	5	5	2380	5	ASTN1	1	176934329	Missense_Mutation	SNP	A	TCGA-CS-6666-01A-11D-1893-08	24741350	176934329	72316292	4	20584											
PTPN14	5784	broad.mit.edu	37	chr1	214625279	214625279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccacccatcgtgcttgCtggctcttgctgagaaacca	8	10	9	14	1	1	1	0	1	1	1	3	2	2	1	3	1	5	5	3	1	1	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:214625279C>G	ENST00000366956.5	-	3	407	c.213G>C	c.(211-213)caG>caC	p.Q71H	PTPN14_ENST00000543945.1_Missense_Mutation_p.Q71H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	71	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		ATCGTGCTTGCTGGCTCTTGC	0.458													G	214625279	C	G	214625279	3	3	299	1	0	0	0	0	1	0	0	0	12869	796	28	4	3418	4	PTPN14	1	214625279	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	37690950	214625279	34625342	5	20585											
USH2A	7399	broad.mit.edu	37	chr1	215847818	215847818	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggttccatccctcctaaGttcataacttctgatctggc	9	14	6	12	0	3	1	1	1	2	0	6	1	6	1	3	2	1	2	3	2	3	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:215847818G>C	ENST00000366943.2	-	63	13821	c.13435C>G	c.(13435-13437)Ctt>Gtt	p.L4479V	USH2A_ENST00000307340.3_Missense_Mutation_p.L4479V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4479	Fibronectin type-III 30.				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)		TCCCTCCTAAGTTCATAACTT	0.448										HNSCC(13;0.011)			C	215847818	G	C	215847818	3	2	299	1	0	0	0	0	1	0	0	0	17138	1029	36	4	2213	4	USH2A	1	215847818	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1222539	215847818	33402803	6	20586											
TGFB2	7042	broad.mit.edu	37	chr1	218609384	218609384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactaggaaaaaaaacagtgGgaagaccccacatctcctgc	16	5	8	12	0	1	1	0	0	1	1	2	3	1	3	3	2	2	0	3	2	6	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr1:218609384G>T	ENST00000366929.4	+	6	1378	c.911G>T	c.(910-912)gGg>gTg	p.G304V	TGFB2_ENST00000366930.4_Missense_Mutation_p.G276V|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	276					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		AAAAACAGTGGGAAGACCCCA	0.448													T	218609384	G	T	218609384	3	4	299	1	0	0	0	0	1	0	0	0	15918	1232	43	4	933	4	TGFB2	1	218609384	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2761566	218609384	30641237	7	20587											
REL	5966	broad.mit.edu	37	chr2	61149057	61149057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcaagctggtcatcagtggCccaccccaccccacgctcag	8	7	8	18	1	4	0	4	0	0	0	4	0	4	0	5	2	1	2	5	2	1	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:61149057C>T	ENST00000295025.8	+	11	1567	c.1247C>T	c.(1246-1248)gCc>gTc	p.A416V	REL_ENST00000394479.3_Missense_Mutation_p.A384V	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			TCATCAGTGGCCCACCCCACC	0.502			A		Hodgkin Lymphoma								T	61149057	C	T	61149057	3	4	299	1	0	0	0	0	1	0	0	0	13303	739	26	2	1289	2	REL	2	61149057	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		61149057	182050316	8	20588											
LRP2	4036	broad.mit.edu	37	chr2	170048452	170048452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcagtacaatccacatcGccatcacagacccaagactg	13	6	6	16	2	2	2	2	0	0	2	4	2	3	2	4	0	1	1	4	0	3	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:170048452G>A	ENST00000263816.3	-	48	9207	c.8922C>T	c.(8920-8922)ggC>ggT	p.G2974G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2974	LDL-receptor class A 22.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.G2974G(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AATCCACATCGCCATCACAGA	0.478													A	170048452	G	A	170048452	2	1	299	1	0	0	0	0	0	0	0	1	9026	1074	38	1		1	LRP2	2	170048452	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	108899395	170048452	73150921	9	20589											
DYNC1I2	1781	broad.mit.edu	37	chr2	172586272	172586272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggaccaatcactggcaTccattgtcatgcagctgttg	10	11	9	11	0	3	0	3	0	0	0	4	1	4	1	2	2	2	4	2	2	2	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:172586272T>C	ENST00000534253.2	+	15	1613	c.1445T>C	c.(1444-1446)aTc>aCc	p.I482T	DYNC1I2_ENST00000263811.4_Missense_Mutation_p.I476T|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.I474T|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.I456T|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.I456T|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.I482T|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.I476T|DYNC1I2_ENST00000410079.3_Missense_Mutation_p.I474T|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.I482T			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	482					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ATCACTGGCATCCATTGTCAT	0.398													C	172586272	T	C	172586272	3	2	299	1	0	0	0	0	1	0	0	0	4882	1435	50	3	1499	3	DYNC1I2	2	172586272	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	2537820	172586272	70613101	10	20590											
FSIP2	401024	broad.mit.edu	37	chr2	186670207	186670207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagaaggcaatatctgcaTtcaggattcaaccacttttt	12	12	6	11	0	3	1	2	0	1	1	3	2	3	2	2	2	2	2	2	2	4	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:186670207T>C	ENST00000343098.5	+	17	16441	c.16441T>C	c.(16441-16443)Ttc>Ctc	p.F5481L	FSIP2_ENST00000424728.1_Missense_Mutation_p.F5392L	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AATATCTGCATTCAGGATTCA	0.378													C	186670207	T	C	186670207	3	2	299	1	0	0	0	0	1	0	0	0	6127	1493	52	3	16507	3	FSIP2	2	186670207	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	14083935	186670207	56529166	11	20591											
HSPD1	3329	broad.mit.edu	37	chr2	198361940	198361940	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatagagcgtgccagtacAgtagcagtggtagtgccatc	10	9	13	9	1	0	1	0	0	0	1	1	1	0	1	2	1	5	5	2	1	5	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:198361940A>G	ENST00000388968.3	-	3	618	c.351T>C	c.(349-351)acT>acC	p.T117T	HSPD1_ENST00000544407.1_Silent_p.T117T|HSPD1_ENST00000345042.2_Silent_p.T117T	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	117					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			GTGCCAGTACAGTAGCAGTGG	0.423													G	198361940	A	G	198361940	2	3	299	1	0	0	0	0	0	0	0	1	7486	175	7	3		3	HSPD1	2	198361940	Silent	SNP	A	TCGA-CS-6666-01A-11D-1893-08	11691733	198361940	44837433	12	20592											
NBEAL1	65065	broad.mit.edu	37	chr2	204003429	204003429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaaactctctcaaattcaGatccagttgcttctaggatt	12	14	6	9	0	4	1	2	0	2	1	6	2	5	2	1	1	2	3	1	1	4	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:204003429G>C	ENST00000449802.1	+	30	5052	c.4719G>C	c.(4717-4719)caG>caC	p.Q1573H		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1573							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCAAATTCAGATCCAGTTGC	0.373													C	204003429	G	C	204003429	3	2	299	1	0	0	0	0	1	0	0	0	10264	933	33	4	4833	4	NBEAL1	2	204003429	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	5641489	204003429	39195944	13	20593											
NDUFS1	4719	broad.mit.edu	37	chr2	206991481	206991481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaattagccccttcaatatCatcatatcgaacaagattag	15	12	5	9	1	3	1	3	0	0	1	4	2	3	1	2	0	2	1	2	0	8	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:206991481C>G	ENST00000233190.6	-	17	2238	c.1972G>C	c.(1972-1974)Gat>Cat	p.D658H	NDUFS1_ENST00000423725.1_Missense_Mutation_p.D601H|NDUFS1_ENST00000455934.2_Missense_Mutation_p.D672H|NDUFS1_ENST00000457011.1_Missense_Mutation_p.D542H|NDUFS1_ENST00000440274.1_Missense_Mutation_p.D622H|NDUFS1_ENST00000432169.1_Missense_Mutation_p.D547H|NDUFS1_ENST00000449699.1_Missense_Mutation_p.D658H	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	CCTTCAATATCATCATATCGA	0.393													G	206991481	C	G	206991481	3	3	299	1	0	0	0	0	1	0	0	0	10367	826	29	4	223	4	NDUFS1	2	206991481	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	2988052	206991481	36207892	14	20594											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	299	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2121632	209113113	34086260	15	20595											
VIL1	7429	broad.mit.edu	37	chr2	219299321	219299321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtccagggaactggcGccaacaacaccaaggccttt	11	6	10	14	1	0	0	0	0	0	0	2	1	2	1	5	4	3	0	5	4	4	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr2:219299321G>A	ENST00000248444.5	+	14	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	VIL1_ENST00000392114.2_Missense_Mutation_p.A214T	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	525	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAACTGGCGCCAACAACAC	0.572													A	219299321	G	A	219299321	3	1	299	1	0	0	0	0	1	0	0	0	17266	1087	38	1	1623	1	VIL1	2	219299321	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	10186208	219299321	23900052	16	20596											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32571802	32571802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttccagctgcagttggtgGttgctttgctaaaagggact	7	13	12	9	0	0	0	0	0	0	0	1	1	1	1	2	3	4	6	2	3	2	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr3:32571802G>A	ENST00000273130.4	-	10	1262	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	DYNC1LI1_ENST00000432458.2_Missense_Mutation_p.P271S	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	387					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						GCAGTTGGTGGTTGCTTTGCT	0.284													A	32571802	G	A	32571802	3	1	299	1	0	0	0	0	1	0	0	0	4883	1261	44	2	428	2	DYNC1LI1	3	32571802	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		32571802	165450628	17	20597											
C4orf40	401137	broad.mit.edu	37	chr4	71024317	71024318	+	Frame_Shift_Ins	INS	-	-	T																															cgtttgtccctccttcaaggINStttttttcagcagctgcagc																								rs148239542		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:71024317_71024318insT	ENST00000344526.5	+	3	537_538	c.348_349insT	c.(349-351)tttfs	p.F117fs	C4orf40_ENST00000502294.1_Frame_Shift_Ins_p.F117fs|C4orf40_ENST00000502441.2_3'UTR	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	117						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						CTCCTTCAAGGTTTTTTTCAGC	0.55													T	71024318	-	T	71024317	7	5	299	1	0	1	1	0	0	0	0	0	2291	1252	44	0	358	0	C4orf40	4	71024317	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08		71024317	120129959	18	20598											
SHROOM3	57619	broad.mit.edu	37	chr4	77660239	77660239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgaggcaggcagatattCgctatgtcaagacagtctat	12	10	12	7	1	2	3	1	1	1	2	3	4	2	4	0	3	0	3	0	3	4	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:77660239C>T	ENST00000296043.6	+	5	1866	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	305					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGCAGATATTCGCTATGTCAA	0.577													T	77660239	C	T	77660239	3	4	299	1	0	0	0	0	1	0	0	0	14389	884	31	1	931	1	SHROOM3	4	77660239	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	6635922	77660239	113494037	19	20599											
MAB21L2	10586	broad.mit.edu	37	chr4	151505024	151505024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgctgctgctgtacgaGtgcgagaaacacccacgaga	13	5	12	11	4	0	3	0	0	0	3	0	6	0	3	1	0	5	4	1	0	3	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:151505024G>C	ENST00000317605.4	+	1	1948	c.843G>C	c.(841-843)gaG>gaC	p.E281D	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000510413.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	281					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGTACGAGTGCGAGAAAC	0.627													C	151505024	G	C	151505024	3	2	299	1	0	0	0	0	1	0	0	0	9213	1020	36	4	845	4	MAB21L2	4	151505024	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	73844785	151505024	39649252	20	20600											
CTSO	1519	broad.mit.edu	37	chr4	156847189	156847189	+	Nonstop_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttgatctgcccaacatgtCacacaaatatagaagaaacg	16	9	6	10	1	3	3	1	1	2	2	3	3	3	3	1	0	3	0	1	0	6	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:156847189C>G	ENST00000433477.3	-	8	1034	c.965G>C	c.(964-966)tGa>tCa	p.*322S		NM_001334.2	NP_001325.1	P43234	CATO_HUMAN	cathepsin O	0					proteolysis	lysosome	cysteine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|prostate(1)	16	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.05)|Kidney(143;0.0627)|COAD - Colon adenocarcinoma(41;0.148)		CCCAACATGTCACACAAATAT	0.308													G	156847189	C	G	156847189	4	3	299	1	0	0	0	0	0	0	0	0	4073	837	29	4	4	4	CTSO	4	156847189	Nonstop_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	5342165	156847189	34307087	21	20601											
PALLD	23022	broad.mit.edu	37	chr4	169432972	169432972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacctgtccagcctctggCagagaaacaaactaagagta	16	6	8	11	0	1	2	0	0	1	2	2	3	2	2	3	1	4	2	3	1	5	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr4:169432972C>A	ENST00000261509.6	+	2	528	c.317C>A	c.(316-318)gCa>gAa	p.A106E	PALLD_ENST00000505667.1_Missense_Mutation_p.A106E|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	106					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CAGCCTCTGGCAGAGAAACAA	0.527									Pancreatic Cancer, Familial Clustering of				A	169432972	C	A	169432972	3	1	299	1	0	0	0	0	1	0	0	0	11483	710	25	4	319	4	PALLD	4	169432972	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	12585783	169432972	21721304	22	20602											
DNAH5	1767	broad.mit.edu	37	chr5	13769245	13769245	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtcacttcttttaagaCctaattcaatataaagcaag	15	14	4	8	0	3	1	2	0	1	1	3	1	3	1	1	0	1	1	1	0	7	8			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:13769245C>G	ENST00000265104.4	-	58	9825	c.9721G>C	c.(9721-9723)Gtc>Ctc	p.V3241L	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3241	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCTTTTAAGACCTAATTCAAT	0.413									Kartagener syndrome				G	13769245	C	G	13769245	5	3	299	1	0	0	0	0	0	0	1	0	4643	521	18	4	4241	4	DNAH5	5	13769245	Splice_Site	SNP	C	TCGA-CS-6666-01A-11D-1893-08		13769245	167146015	23	20603											
ANKHD1	54882	broad.mit.edu	37	chr5	139866584	139866584	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgccatggttgtaccTccccaggaacctgacagaac	11	8	8	14	0	0	2	0	1	0	1	1	3	1	3	5	2	4	2	5	2	3	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:139866584T>A	ENST00000297183.6	+	14	2308	c.2184T>A	c.(2182-2184)ccT>ccA	p.P728P	ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.P728P|ANKHD1_ENST00000360839.2_Silent_p.P728P	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGTTGTACCTCCCCAGGAAC	0.403													A	139866584	T	A	139866584	2	1	299	1	0	0	0	0	0	0	0	1	628	1538	54	5		5	ANKHD1	5	139866584	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	126097339	139866584	41048676	24	20604											
GEMIN5	25929	broad.mit.edu	37	chr5	154307077	154307077	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtgtatttccgtctccaAgattgagtgagatcccattg	9	13	11	8	1	1	3	0	2	1	2	4	4	3	3	3	1	0	1	3	1	2	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr5:154307077A>G	ENST00000285873.7	-	7	1023	c.948T>C	c.(946-948)tcT>tcC	p.S316S		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	316					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCGTCTCCAAGATTGAGTGA	0.383													G	154307077	A	G	154307077	2	3	299	1	0	0	0	0	0	0	0	1	6387	59	3	3		3	GEMIN5	5	154307077	Silent	SNP	A	TCGA-CS-6666-01A-11D-1893-08	14440493	154307077	26608183	25	20605											
LRRC16A	55604	broad.mit.edu	37	chr6	25606448	25606448	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtcccccaaacccaGtctggcagcacggcccgtca	8	5	9	19	2	2	0	1	0	1	0	3	0	3	0	5	2	3	3	5	2	1	0			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:25606448G>C	ENST00000329474.6	+	35	4162	c.3794G>C	c.(3793-3795)aGt>aCt	p.S1265T		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1265					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAAACCCAGTCTGGCAGCA	0.592													C	25606448	G	C	25606448	3	2	299	1	0	0	0	0	1	0	0	0	9041	1029	36	4	3932	4	LRRC16A	6	25606448	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		25606448	145508619	26	20606											
HIST1H1B	3009	broad.mit.edu	37	chr6	27835109	27835109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccggccgctaaggcctTcttaagggctgccaaagaaa	11	6	11	13	2	1	1	0	0	1	1	1	1	1	1	5	3	1	2	5	3	4	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:27835109T>C	ENST00000331442.3	-	1	250	c.199A>G	c.(199-201)Aag>Gag	p.K67E		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	67	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						GCTAAGGCCTTCTTAAGGGCT	0.582													C	27835109	T	C	27835109	3	2	299	1	0	0	0	0	1	0	0	0	7178	1792	62	3	485	3	HIST1H1B	6	27835109	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	2228661	27835109	143279958	27	20607											
OR12D2	26529	broad.mit.edu	37	chr6	29364925	29364925	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcacaatctgggtcattgGttttttccatgccctgctgc	6	15	8	12	0	3	0	2	0	1	0	4	0	4	0	2	2	3	2	2	2	1	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:29364925G>T	ENST00000383555.2	+	1	510	c.449G>T	c.(448-450)gGt>gTt	p.G150V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGGGTCATTGGTTTTTTCCAT	0.473													T	29364925	G	T	29364925	3	4	299	1	0	0	0	0	1	0	0	0	11007	1261	44	4	451	4	OR12D2	6	29364925	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1529816	29364925	141750142	28	20608											
LTA	4049	broad.mit.edu	37	chr6	31541359	31541359	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcactcgatgtaccaCggggctgcgttccagctcac	6	9	12	14	3	1	0	1	0	0	0	3	1	2	0	2	3	4	6	2	3	1	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31541359C>T	ENST00000454783.1	+	4	765	c.507C>T	c.(505-507)caC>caT	p.H169H	LTA_ENST00000418386.2_Silent_p.H169H	NM_001159740.2	NP_001153212.1	P01374	TNFB_HUMAN	lymphotoxin alpha	169					cell-cell signaling|induction of apoptosis|signal transduction	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(2)|kidney(2)|lung(4)|upper_aerodigestive_tract(1)	9					Etanercept(DB00005)	CGATGTACCACGGGGCTGCGT	0.592													T	31541359	C	T	31541359	2	4	299	1	0	0	0	0	0	0	0	1	9138	535	19	1		1	LTA	6	31541359	Silent	SNP	C	TCGA-CS-6666-01A-11D-1893-08	2176434	31541359	139573708	29	20609											
CLIC1	1192	broad.mit.edu	37	chr6	31698750	31698750	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggaaggcctcggggaTggtgaatccccggtacttct	6	9	13	13	3	1	1	0	1	1	0	4	3	3	3	5	6	1	1	5	6	3	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:31698750T>C	ENST00000375780.2	-	7	1167	c.595A>G	c.(595-597)Atc>Gtc	p.I199V	CLIC1_ENST00000375779.2_Missense_Mutation_p.I199V|CLIC1_ENST00000375784.3_Missense_Mutation_p.I199V|CLIC1_ENST00000395892.1_Missense_Mutation_p.I199V			O00299	CLIC1_HUMAN	chloride intracellular channel 1	199	GST C-terminal.				signal transduction	brush border|chloride channel complex|cytoplasm|membrane fraction|nuclear membrane|plasma membrane|soluble fraction	protein binding|voltage-gated chloride channel activity			central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)|skin(1)	7						GCCTCGGGGATGGTGAATCCC	0.582													C	31698750	T	C	31698750	3	2	299	1	0	0	0	0	1	0	0	0	3556	1464	51	3	134	3	CLIC1	6	31698750	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	157391	31698750	139416317	30	20610											
BTNL2	56244	broad.mit.edu	37	chr6	32370727	32370727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacctgggaggctgatgaCcgaccccttctcctcagtga	7	9	11	14	1	2	4	1	4	1	0	3	6	2	5	5	2	0	1	5	2	0	1	rs79379254		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:32370727C>T	ENST00000454136.3	-	3	698	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	BTNL2_ENST00000540315.1_Intron|BTNL2_ENST00000429232.2_Intron|BTNL2_ENST00000374995.3_Intron|BTNL2_ENST00000374993.1_Missense_Mutation_p.V232I|BTNL2_ENST00000544175.1_Intron|BTNL2_ENST00000414363.1_Intron			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	232	Ig-like V-type 2.					integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						AGGCTGATGACCGACCCCTTC	0.582													T	32370727	C	T	32370727	3	4	299	1	0	0	0	0	1	0	0	0	1575	507	18	2	689	2	BTNL2	6	32370727	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	671977	32370727	138744340	31	20611											
HSP90AB1	3326	broad.mit.edu	37	chr6	44220940	44220940	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacctggagatcaacccTgaccaccccattgtggagac	12	6	9	14	0	1	3	1	1	0	2	1	5	1	3	5	2	2	1	5	2	2	1	rs61753593		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:44220940T>C	ENST00000371554.1	+	11	2104	c.1890T>C	c.(1888-1890)ccT>ccC	p.P630P	HSP90AB1_ENST00000371646.5_Silent_p.P630P|HSP90AB1_ENST00000353801.3_Silent_p.P630P			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	630					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGATCAACCCTGACCACCCCA	0.557													C	44220940	T	C	44220940	2	2	299	1	0	0	0	0	0	0	0	1	7459	1567	55	3		3	HSP90AB1	6	44220940	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	11850213	44220940	126894127	32	20612											
ENPP5	59084	broad.mit.edu	37	chr6	46129357	46129357	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcatggcggtgatattgagGaggtggcatagtagtgggta	9	10	19	3	1	0	2	0	2	0	0	0	3	0	3	0	7	0	4	0	7	4	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46129357G>A	ENST00000371383.2	-	5	1400	c.1140C>T	c.(1138-1140)ctC>ctT	p.L380L	ENPP5_ENST00000230565.3_Silent_p.L380L			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	380						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TGATATTGAGGAGGTGGCATA	0.443													A	46129357	G	A	46129357	2	1	299	1	0	0	0	0	0	0	0	1	5174	1161	41	2		2	ENPP5	6	46129357	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1908417	46129357	124985710	33	20613											
GPR116	221395	broad.mit.edu	37	chr6	46834708	46834708	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagtaactttgtagtcTccatcctcctctatgcagca	10	13	7	11	0	2	0	0	0	2	0	5	1	4	1	3	1	3	4	3	1	4	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr6:46834708T>C	ENST00000283296.7	-	13	2076	c.1788A>G	c.(1786-1788)ggA>ggG	p.G596G	GPR116_ENST00000362015.4_Silent_p.G596G|GPR116_ENST00000545669.1_Silent_p.G25G|GPR116_ENST00000456426.2_Silent_p.G454G|GPR116_ENST00000265417.7_Silent_p.G596G	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	596					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CTTTGTAGTCTCCATCCTCCT	0.448													C	46834708	T	C	46834708	2	2	299	1	0	0	0	0	0	0	0	1	6687	1538	54	3		3	GPR116	6	46834708	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	705351	46834708	124280359	34	20614											
IKZF1	10320	broad.mit.edu	37	chr7	50444275	50444275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgatgaagagaatgggCgtgcctgtgaaatgaatggg	13	8	17	3	1	0	6	0	4	0	2	0	7	0	6	1	2	1	0	1	2	4	0			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:50444275C>T	ENST00000331340.3	+	4	360	c.205C>T	c.(205-207)Cgt>Tgt	p.R69C	IKZF1_ENST00000357364.4_Missense_Mutation_p.R69C|IKZF1_ENST00000349824.4_Missense_Mutation_p.R69C|IKZF1_ENST00000438033.1_Intron|IKZF1_ENST00000439701.1_Missense_Mutation_p.R69C|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000440768.2_Missense_Mutation_p.R69C|IKZF1_ENST00000359197.5_Missense_Mutation_p.R69C|IKZF1_ENST00000343574.5_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	69					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				AGAGAATGGGCGTGCCTGTGA	0.458			"D,T"	BCL6	"ALL, DLBCL"								T	50444275	C	T	50444275	3	4	299	1	0	0	0	0	1	0	0	0	7672	768	27	1	215	1	IKZF1	7	50444275	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		50444275	108694388	35	20615											
ABCB1	5243	broad.mit.edu	37	chr7	87183089	87183089	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttacagtgagtacttgTccaatagaatattcccctga	12	12	6	11	0	0	3	0	2	0	1	2	3	2	3	4	0	2	1	4	0	6	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:87183089T>C	ENST00000265724.3	-	10	1404	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ABCB1_ENST00000543898.1_Silent_p.G265G	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	329	ABC transmembrane type-1 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)	TGAGTACTTGTCCAATAGAAT	0.378													C	87183089	T	C	87183089	2	2	299	1	0	0	0	0	0	0	0	1	40	1654	58	3		3	ABCB1	7	87183089	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08	36738814	87183089	71955574	36	20616											
ZNF800	168850	broad.mit.edu	37	chr7	127014981	127014981	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactgcattttgattagtttCtatgggttctagcttaataa	10	19	7	5	0	2	1	0	1	2	0	2	1	2	1	0	1	3	4	0	1	6	10			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:127014981C>G	ENST00000393313.1	-	5	1000	c.409G>C	c.(409-411)Gaa>Caa	p.E137Q	ZNF800_ENST00000265827.3_Missense_Mutation_p.E137Q|ZNF800_ENST00000393312.1_Missense_Mutation_p.E137Q			Q2TB10	ZN800_HUMAN	zinc finger protein 800	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGATTAGTTTCTATGGGTTCT	0.348													G	127014981	C	G	127014981	3	3	299	1	0	0	0	0	1	0	0	0	18268	922	32	4	1593	4	ZNF800	7	127014981	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	39831892	127014981	32123682	37	20617											
TAS2R4	50832	broad.mit.edu	37	chr7	141478489	141478489	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatttctggtgaacaccatCtacttcgtctcttcaaatac	10	15	4	12	1	4	1	1	1	3	0	6	1	4	1	1	1	3	0	1	1	5	6			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr7:141478489C>G	ENST00000247881.2	+	1	248	c.201C>G	c.(199-201)atC>atG	p.I67M	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	67					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TGAACACCATCTACTTCGTCT	0.443													G	141478489	C	G	141478489	3	3	299	1	0	0	0	0	1	0	0	0	15674	903	32	4	203	4	TAS2R4	7	141478489	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	14463508	141478489	17660174	38	20618											
PURG	29942	broad.mit.edu	37	chr8	30889490	30889490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtagaaccttttattgTccactctgaaagaagtcccc	13	11	6	11	0	1	3	0	1	1	2	3	3	3	3	4	0	1	1	4	0	6	4			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:30889490T>C	ENST00000475541.1	-	1	1741	c.809A>G	c.(808-810)gAc>gGc	p.D270G	PURG_ENST00000339382.2_Missense_Mutation_p.D270G	NM_013357.2	NP_037489.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	270						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		CCTTTTATTGTCCACTCTGAA	0.438													C	30889490	T	C	30889490	3	2	299	1	0	0	0	0	1	0	0	0	12917	1667	58	3	347	3	PURG	8	30889490	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08		30889490	115474532	39	20619											
CSMD3	114788	broad.mit.edu	37	chr8	113326251	113326252	+	Frame_Shift_Ins	INS	-	-	A																															tgaataatccccactgagggINSaaataagcactggactttga																										TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113326251_113326252insA	ENST00000297405.5	-	49	7823_7824	c.7579_7580insT	c.(7579-7581)tccfs	p.S2527fs	CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.S2457fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.S2487fs|CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.S2423fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2527	CUB 14.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CCCACTGAGGGAAATAAGCACT	0.317										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113326252	-	A	113326251	7	5	299	1	0	1	1	0	0	0	0	0	3979	1174	41	0	3635	0	CSMD3	8	113326251	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08	82436761	113326251	33037771	40	20620											
CSMD3	114788	broad.mit.edu	37	chr8	113697824	113697824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgggattccaggtcaaagtCattgaaagaaagatgtatcc	14	10	10	7	0	2	3	2	1	0	2	4	4	4	4	2	2	0	1	2	2	4	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697824C>G	ENST00000297405.5	-	15	2537	c.2293G>C	c.(2293-2295)Gac>Cac	p.D765H	CSMD3_ENST00000343508.3_Missense_Mutation_p.D725H|CSMD3_ENST00000455883.2_Missense_Mutation_p.D661H|CSMD3_ENST00000352409.3_Missense_Mutation_p.D765H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	765	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGGTCAAAGTCATTGAAAGAA	0.433										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113697824	C	G	113697824	3	3	299	1	0	0	0	0	1	0	0	0	3979	826	29	4	9058	4	CSMD3	8	113697824	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	371573	113697824	32666198	41	20621											
CSMD3	114788	broad.mit.edu	37	chr8	113697870	113697870	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctggatcagagattatcgtCcagatgcaatttaaattatt	13	14	7	7	1	1	2	1	0	0	2	3	4	2	3	2	1	1	1	2	1	5	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:113697870C>T	ENST00000297405.5	-	15	2491	c.2247G>A	c.(2245-2247)tgG>tgA	p.W749*	CSMD3_ENST00000343508.3_Nonsense_Mutation_p.W709*|CSMD3_ENST00000455883.2_Nonsense_Mutation_p.W645*|CSMD3_ENST00000352409.3_Nonsense_Mutation_p.W749*	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	749	CUB 4.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGATTATCGTCCAGATGCAAT	0.423										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113697870	C	T	113697870	4	4	299	1	0	0	0	0	0	1	0	0	3979	856	30	2	9104	2	CSMD3	8	113697870	Nonsense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	46	113697870	32666152	42	20622											
ASAP1	50807	broad.mit.edu	37	chr8	131127907	131127907	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatcatcgctctcatctatCtcctcctgtcgaagattcca	8	14	4	15	2	5	1	3	0	3	1	11	2	7	1	3	0	0	1	3	0	2	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr8:131127907C>G	ENST00000357668.1	-	22	2166	c.2139G>C	c.(2137-2139)gaG>gaC	p.E713D	ASAP1_ENST00000518721.1_Missense_Mutation_p.E713D			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	713					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TCTCATCTATCTCCTCCTGTC	0.433													G	131127907	C	G	131127907	3	3	299	1	0	0	0	0	1	0	0	0	1015	912	32	4	1282	4	ASAP1	8	131127907	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	17430037	131127907	15236115	43	20623											
PLAA	9373	broad.mit.edu	37	chr9	26905915	26905915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacaattgcaaaaagtcCtgagagcaagcagctggttt	16	8	9	8	0	0	1	0	1	0	1	1	2	1	1	1	1	5	5	1	1	6	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr9:26905915C>T	ENST00000397292.3	-	14	2399	c.1982G>A	c.(1981-1983)aGg>aAg	p.R661K		NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	661	PUL.				phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		GCAAAAAGTCCTGAGAGCAAG	0.458													T	26905915	C	T	26905915	3	4	299	1	0	0	0	0	1	0	0	0	12088	681	24	2	409	2	PLAA	9	26905915	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		26905915	114307516	44	20624											
AKR1E2	83592	broad.mit.edu	37	chr10	4884665	4884665	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagtgatccccggatctaTcaccccaagtcacattaaag	13	9	7	12	1	3	1	2	1	1	0	4	3	4	2	4	1	0	0	4	1	5	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:4884665T>C	ENST00000298375.7	+	8	877	c.806T>C	c.(805-807)aTc>aCc	p.I269T	AKR1E2_ENST00000532248.1_Missense_Mutation_p.I212T|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I171T|AKR1E2_ENST00000334019.4_Missense_Mutation_p.I212T	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	269						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CCCGGATCTATCACCCCAAGT	0.413													C	4884665	T	C	4884665	3	2	299	1	0	0	0	0	1	0	0	0	474	1435	50	3	836	3	AKR1E2	10	4884665	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08		4884665	130650082	45	20625											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118351397	118351397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagaagatcggcacccGcttcctgctgtacaccaatg	9	8	9	15	2	0	2	0	1	0	2	2	3	1	2	4	1	2	4	4	1	3	2	rs115887041	by1000genomes	TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr10:118351397G>A	ENST00000528052.1	+	3	235	c.164G>A	c.(163-165)cGc>cAc	p.R55H	PNLIPRP1_ENST00000442761.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.R55H|PNLIPRP1_ENST00000480870.2_3'UTR			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	55					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		ATCGGCACCCGCTTCCTGCTG	0.542													A	118351397	G	A	118351397	3	1	299	1	0	0	0	0	1	0	0	0	12227	1087	38	1	170	1	PNLIPRP1	10	118351397	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	113466732	118351397	17183350	46	20626											
OR2AG1	144125	broad.mit.edu	37	chr11	6806340	6806340	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgacagtgggtctccTgaactgctctgtgctacaat	9	12	10	10	0	2	3	0	3	2	0	3	3	2	3	1	1	4	2	1	1	4	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr11:6806340T>C	ENST00000307401.4	+	1	93	c.72T>C	c.(70-72)ccT>ccC	p.P24P		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GTGGGTCTCCTGAACTGCTCT	0.498													C	6806340	T	C	6806340	2	2	299	1	0	0	0	0	0	0	0	1	11060	1567	55	3		3	OR2AG1	11	6806340	Silent	SNP	T	TCGA-CS-6666-01A-11D-1893-08		6806340	128200176	47	20627											
CD163	9332	broad.mit.edu	37	chr12	7649700	7649700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacattcagtgactccatCtaccagtctcaggctcagat	11	11	7	12	0	4	3	3	2	2	1	6	3	5	3	2	1	2	1	2	1	2	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:7649700C>A	ENST00000359156.4	-	5	1010	c.808G>T	c.(808-810)Gat>Tat	p.D270Y	CD163_ENST00000432237.2_Missense_Mutation_p.D270Y|CD163_ENST00000396620.3_Missense_Mutation_p.D270Y|CD163_ENST00000541972.1_Missense_Mutation_p.D258Y	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	270	SRCR 3.	Cleavage; in calcium-free condition.			acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GTGACTCCATCTACCAGTCTC	0.468													A	7649700	C	A	7649700	3	1	299	1	0	0	0	0	1	0	0	0	2997	913	32	4	2710	4	CD163	12	7649700	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		7649700	126202195	48	20628											
PTPRB	5787	broad.mit.edu	37	chr12	70965783	70965783	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcatagtgatcaaagTctccagtggcatgcacccag	11	10	9	11	0	3	2	2	2	1	0	4	2	3	2	2	1	1	2	2	1	2	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr12:70965783T>G	ENST00000334414.6	-	12	2971	c.2927A>C	c.(2926-2928)gAc>gCc	p.D976A	PTPRB_ENST00000551525.1_Missense_Mutation_p.D975A|PTPRB_ENST00000261266.5_Missense_Mutation_p.D758A|PTPRB_ENST00000538708.1_Missense_Mutation_p.D758A|PTPRB_ENST00000550358.1_Missense_Mutation_p.D888A|PTPRB_ENST00000451516.2_Missense_Mutation_p.D668A|PTPRB_ENST00000550857.1_Missense_Mutation_p.D668A	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	758	Fibronectin type-III 11.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GTGATCAAAGTCTCCAGTGGC	0.413													G	70965783	T	G	70965783	3	3	299	1	0	0	0	0	1	0	0	0	12884	1667	58	5	3812	5	PTPRB	12	70965783	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	63316083	70965783	62886112	49	20629											
CMIP	80790	broad.mit.edu	37	chr16	81641214	81641214	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcctacagcgcaattGaagacgttcagctgctgtcc	9	10	9	13	2	2	2	1	1	1	1	4	2	3	2	2	0	4	4	2	0	3	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr16:81641214G>T	ENST00000537098.3	+	2	415	c.343G>T	c.(343-345)Gaa>Taa	p.E115*	CMIP_ENST00000539778.2_Nonsense_Mutation_p.E21*	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	81	PH.					cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAGCGCAATTGAAGACGTTCA	0.463													T	81641214	G	T	81641214	4	4	299	1	0	0	0	0	0	1	0	0	3609	1291	45	4	371	4	CMIP	16	81641214	Nonsense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		81641214	8713539	50	20630											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	299	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		7578406	73616804	51	20631											
TP53	7157	broad.mit.edu	37	chr17	7578467	7578467	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcgcggacgcgggTgccgggcgggggtgtggaat	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:7578467T>G	ENST00000420246.2	-	5	595	c.463A>C	c.(463-465)Acc>Ccc	p.T155P	TP53_ENST00000455263.2_Missense_Mutation_p.T155P|TP53_ENST00000413465.2_Missense_Mutation_p.T155P|TP53_ENST00000269305.4_Missense_Mutation_p.T155P|TP53_ENST00000445888.2_Missense_Mutation_p.T155P|TP53_ENST00000359597.4_Missense_Mutation_p.T155P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155P(17)|p.T155A(10)|p.0?(8)|p.?(5)|p.P152fs*14(5)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*26(1)|p.T155fs*25(1)|p.D148_T155delDSTPPPGT(1)|p.T62P(1)|p.T23P(1)|p.D148fs*23(1)|p.T62A(1)|p.T23A(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.T155fs*15(1)|p.T155_R156delTR(1)|p.T155S(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)		CGGACGCGGGTGCCGGGCGGG	0.612		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)			G	7578467	T	G	7578467	3	3	299	1	0	0	0	0	1	0	0	0	16482	1696	59	5	835	5	TP53	17	7578467	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	61	7578467	73616743	52	20632											
KRT33A	3883	broad.mit.edu	37	chr17	39502881	39502881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctgggagctgtagcGggcctcgctctctgtcagcg	5	8	16	12	3	2	0	1	0	1	0	4	2	2	2	1	3	4	4	1	3	1	1	rs148488457		TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39502881G>A	ENST00000007735.3	-	6	960	c.916C>T	c.(916-918)Cgc>Tgc	p.R306C		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	306	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GAGCTGTAGCGGGCCTCGCTC	0.587													A	39502881	G	A	39502881	3	1	299	1	0	0	0	0	1	0	0	0	8527	1116	39	1	306	1	KRT33A	17	39502881	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	31924414	39502881	41692329	53	20633											
KRT33B	3884	broad.mit.edu	37	chr17	39520186	39520186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatgcattggtggtggCgcaggggttggagggcagcc	6	9	18	8	1	1	0	1	0	0	0	1	1	1	1	1	7	2	4	1	7	0	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:39520186C>T	ENST00000251646.3	-	7	1166	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	373	Tail.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TTGGTGGTGGCGCAGGGGTTG	0.522													T	39520186	C	T	39520186	3	4	299	1	0	0	0	0	1	0	0	0	8528	768	27	1	101	1	KRT33B	17	39520186	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	17305	39520186	41675024	54	20634											
PRKCA	5578	broad.mit.edu	37	chr17	64734916	64734916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcatggaatatgtcaacgGtggggacctcatgtaccaca	11	9	11	10	2	3	0	3	0	0	0	3	2	3	2	2	4	2	1	2	4	4	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr17:64734916G>C	ENST00000413366.3	+	11	1291	c.1265G>C	c.(1264-1266)gGt>gCt	p.G422A		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	422	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TATGTCAACGGTGGGGACCTC	0.453													C	64734916	G	C	64734916	3	2	299	1	0	0	0	0	1	0	0	0	12593	1261	44	4	1307	4	PRKCA	17	64734916	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	25214730	64734916	16460294	55	20635											
TAF4B	6875	broad.mit.edu	37	chr18	23865961	23865961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtactacaacagtaacaaCttctcctgtggtgacaacta	13	11	6	11	0	1	1	0	1	1	0	2	1	1	1	1	1	6	2	1	1	7	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:23865961C>G	ENST00000269142.5	+	7	2086	c.1088C>G	c.(1087-1089)aCt>aGt	p.T363S	TAF4B_ENST00000400466.2_Missense_Mutation_p.T363S|TAF4B_ENST00000578121.1_Missense_Mutation_p.T363S	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	363					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACAGTAACAACTTCTCCTGTG	0.448													G	23865961	C	G	23865961	3	3	299	1	0	0	0	0	1	0	0	0	15624	565	20	4	1114	4	TAF4B	18	23865961	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		23865961	54211287	56	20636											
DCC	1630	broad.mit.edu	37	chr18	51025871	51025871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttacacaccacttttgTctcagccaggtaaagtactc	10	12	5	14	0	1	0	1	0	1	0	4	0	2	0	3	1	3	2	3	1	4	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr18:51025871T>C	ENST00000442544.2	+	27	4718	c.4102T>C	c.(4102-4104)Tct>Cct	p.S1368P	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.S1001P	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1368					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACCACTTTTGTCTCAGCCAGG	0.443													C	51025871	T	C	51025871	3	2	299	1	0	0	0	0	1	0	0	0	4316	1667	58	3	4208	3	DCC	18	51025871	Missense_Mutation	SNP	T	TCGA-CS-6666-01A-11D-1893-08	27159910	51025871	27051377	57	20637											
MUC16	94025	broad.mit.edu	37	chr19	9058537	9058537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcggagatgtctagtgAcattgtggactgagcagggc	9	11	14	7	1	2	3	1	2	1	1	3	5	2	4	0	3	1	1	0	3	1	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr19:9058537A>G	ENST00000397910.4	-	3	29112	c.28909T>C	c.(28909-28911)Tca>Cca	p.S9637P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9639	Ser-rich.|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						ATGTCTAGTGACATTGTGGAC	0.498													G	9058537	A	G	9058537	3	3	299	1	0	0	0	0	1	0	0	0	10049	275	10	3	14942	3	MUC16	19	9058537	Missense_Mutation	SNP	A	TCGA-CS-6666-01A-11D-1893-08		9058537	50070446	58	20638											
KIF16B	55614	broad.mit.edu	37	chr20	16360692	16360692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggctctcctcctgcttgCgaatctggagctgcacgatt	6	12	11	12	2	2	1	0	1	2	0	4	4	3	2	2	2	4	4	2	2	1	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:16360692C>T	ENST00000354981.2	-	19	2112	c.1955G>A	c.(1954-1956)cGc>cAc	p.R652H	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCCTGCTTGCGAATCTGGAG	0.522													T	16360692	C	T	16360692	3	4	299	1	0	0	0	0	1	0	0	0	8336	768	27	1	2030	1	KIF16B	20	16360692	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		16360692	46664828	59	20639											
DEFB118	117285	broad.mit.edu	37	chr20	29956513	29956513	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccccaagtgatcccaggTaatcagaggtcagggaagat	13	7	11	10	0	2	3	2	1	0	2	3	4	3	4	3	3	1	1	3	3	4	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:29956513T>C	ENST00000253381.2	+	1	91		c.e1+2			NM_054112.2	NP_473453.1	Q96PH6	DB118_HUMAN	defensin, beta 118						cell-matrix adhesion|defense response to bacterium|innate immune response|spermatogenesis	extracellular region				breast(1)|endometrium(1)|lung(7)|ovary(3)|pancreas(1)|prostate(1)	14	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TGATCCCAGGTAATCAGAGGT	0.502													C	29956513	T	C	29956513	5	2	299	1	0	0	0	0	0	0	1	0	4444	1652	57	3	62	3	DEFB118	20	29956513	Splice_Site	SNP	T	TCGA-CS-6666-01A-11D-1893-08	13595821	29956513	33069007	60	20640											
DLGAP4	22839	broad.mit.edu	37	chr20	35152721	35152721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaaattccagcagttcCggggcctctgtgagcaaaac	11	7	10	13	1	1	2	0	1	1	1	3	2	3	2	4	2	3	3	4	2	3	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:35152721C>T	ENST00000373913.3	+	11	3052	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	DLGAP4_ENST00000373907.2_Missense_Mutation_p.R861W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.R858W|RP5-977B1.7_ENST00000433238.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.R861W|RP5-977B1.7_ENST00000439595.1_RNA|DLGAP4_ENST00000340491.4_Missense_Mutation_p.R322W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	861					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCAGCAGTTCCGGGGCCTCTG	0.532													T	35152721	C	T	35152721	3	4	299	1	0	0	0	0	1	0	0	0	4601	643	23	1	2734	1	DLGAP4	20	35152721	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	5196208	35152721	27872799	61	20641											
PPP1R16B	26051	broad.mit.edu	37	chr20	37547124	37547124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacacctgggcagcagcatgGccaggacgggcgagagtagc	10	3	16	12	2	0	1	0	0	0	1	0	3	0	2	2	4	3	4	2	4	1	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr20:37547124G>A	ENST00000299824.1	+	11	1708	c.1519G>A	c.(1519-1521)Gcc>Acc	p.A507T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A465T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	507					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CAGCAGCATGGCCAGGACGGG	0.612													A	37547124	G	A	37547124	3	1	299	1	0	0	0	0	1	0	0	0	12448	1203	42	2	1557	2	PPP1R16B	20	37547124	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2394403	37547124	25478396	62	20642											
DSCAM	1826	broad.mit.edu	37	chr21	41496241	41496241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgctgccttcacacccgCgggaggacctggaactggaa	8	5	13	15	4	1	0	1	0	0	0	1	4	1	4	4	4	2	1	4	4	2	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:41496241C>T	ENST00000400454.1	-	20	4054	c.3577G>A	c.(3577-3579)Gcg>Acg	p.A1193T		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1193	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACACCCGCGGGAGGACCT	0.597													T	41496241	C	T	41496241	3	4	299	1	0	0	0	0	1	0	0	0	4807	768	27	1	2517	1	DSCAM	21	41496241	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08		41496241	6633654	63	20643											
TMPRSS2	7113	broad.mit.edu	37	chr21	42845269	42845269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttttccacgcagtgggcGgctgtcacgatccactcggg	6	10	12	13	4	1	0	1	0	0	0	4	1	3	0	2	3	1	2	2	3	1	3			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:42845269G>A	ENST00000398585.3	-	9	1053	c.993C>T	c.(991-993)gcC>gcT	p.A331A	TMPRSS2_ENST00000332149.5_Silent_p.A294A|TMPRSS2_ENST00000458356.1_Silent_p.A294A	NM_001135099.1	NP_001128571.1	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	294	Peptidase S1.				proteolysis	cytoplasm|extracellular region|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity		TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				CGCAGTGGGCGGCTGTCACGA	0.692			T	"ERG, ETV1, ETV4, ETV5"	prostate								A	42845269	G	A	42845269	2	1	299	1	0	0	0	0	0	0	0	1	16347	1103	39	1		1	TMPRSS2	21	42845269	Silent	SNP	G	TCGA-CS-6666-01A-11D-1893-08	1349028	42845269	5284626	64	20644											
AGPAT3	56894	broad.mit.edu	37	chr21	45379705	45379705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagcagctctaccgccGcctcaactgccgcctcgcct	7	6	8	20	4	2	0	1	0	1	0	3	0	2	0	6	0	6	3	6	0	3	1			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr21:45379705G>A	ENST00000398063.2	+	2	635	c.143G>A	c.(142-144)cGc>cAc	p.R48H	AGPAT3_ENST00000291572.8_Missense_Mutation_p.R48H|AGPAT3_ENST00000546158.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000398061.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Missense_Mutation_p.R48H|AGPAT3_ENST00000327505.2_Missense_Mutation_p.R48H	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	48					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		CTCTACCGCCGCCTCAACTGC	0.667													A	45379705	G	A	45379705	3	1	299	1	0	0	0	0	1	0	0	0	388	1087	38	1	145	1	AGPAT3	21	45379705	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08	2534436	45379705	2750190	65	20645											
CACNA1I	8911	broad.mit.edu	37	chr22	40055726	40055726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccaggaggactggaacGtcgttctctacaatggcatg	10	9	11	11	2	2	0	1	0	1	0	4	3	2	3	1	4	2	2	1	4	3	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:40055726G>A	ENST00000336649.4	+	17	2491	c.2491G>A	c.(2491-2493)Gtc>Atc	p.V831I	CACNA1I_ENST00000400164.3_Missense_Mutation_p.V790I|CACNA1I_ENST00000407673.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000404898.1_Missense_Mutation_p.V790I|CACNA1I_ENST00000402142.3_Missense_Mutation_p.V825I|CACNA1I_ENST00000401624.1_Missense_Mutation_p.V825I			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	825					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	GGACTGGAACGTCGTTCTCTA	0.572													A	40055726	G	A	40055726	3	1	299	1	0	0	0	0	1	0	0	0	2572	1145	40	1	2527	1	CACNA1I	22	40055726	Missense_Mutation	SNP	G	TCGA-CS-6666-01A-11D-1893-08		40055726	11248840	66	20646											
ACO2	50	broad.mit.edu	37	chr22	41895798	41895798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgggccaaggtggcgatgagCcactttgagcccaacgagta	10	6	14	11	3	0	2	0	2	0	0	0	4	0	2	3	3	3	1	3	3	3	2			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:41895798C>G	ENST00000396512.3	+	2	122	c.105C>G	c.(103-105)agC>agG	p.S35R	ACO2_ENST00000216254.4_Missense_Mutation_p.S35R			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	35				S -> T (in Ref. 1; AAB38416).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						TGGCGATGAGCCACTTTGAGC	0.517													G	41895798	C	G	41895798	3	3	299	1	0	0	0	0	1	0	0	0	147	738	26	4	111	4	ACO2	22	41895798	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	1840072	41895798	9408768	67	20647											
UPK3A	7380	broad.mit.edu	37	chr22	45689091	45689091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcgacgatcgacacgtggCcaggccggcggagcggaggc	8	3	17	13	7	0	0	0	0	0	0	2	5	0	2	2	6	1	0	2	6	0	0			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chr22:45689091C>T	ENST00000216211.4	+	5	633	c.601C>T	c.(601-603)Cca>Tca	p.P201S	UPK3A_ENST00000396082.2_Missense_Mutation_p.P80S	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	201					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		CGACACGTGGCCAGGCCGGCG	0.632													T	45689091	C	T	45689091	3	4	299	1	0	0	0	0	1	0	0	0	17112	739	26	2	619	2	UPK3A	22	45689091	Missense_Mutation	SNP	C	TCGA-CS-6666-01A-11D-1893-08	3793293	45689091	5615475	68	20648											
ATRX	546	broad.mit.edu	37	chrX	76919037	76919038	+	Frame_Shift_Ins	INS	-	-	T																															ctgattcagaattgacttgaINSttttttgcttctaaatgaag																										TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:76919037_76919038insT	ENST00000373344.5	-	12	4167_4168	c.3953_3954insA	c.(3952-3954)aatfs	p.N1318fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N1280fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1318					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)	AATTGACTTGATTTTTTGCTTC	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76919038	-	T	76919037	7	5	299	1	0	1	1	0	0	0	0	0	1213	330	12	0	3620	0	ATRX	23	76919037	Frame_Shift_Ins	INS	-	TCGA-CS-6666-01A-11D-1893-08		76919037	78351523	69	20649											
TAF7L	54457	broad.mit.edu	37	chrX	100530268	100530268	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagcacagactgaaaatgaTtctgaaaaataaattgtata	19	10	6	6	0	1	4	0	3	1	1	1	4	1	4	1	0	1	2	1	0	8	5			TCGA-CS-6666-01A-11D-1893-08	TCGA-CS-6666-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b1a392f-8886-4946-8f84-1f4e5d5be873	97f96259-12a3-4d78-8f41-9770ef96748f	g.chrX:100530268T>C	ENST00000372907.3	-	12	1297	c.1286A>G	c.(1285-1287)aAt>aGt	p.N429S	TAF7L_ENST00000356784.1_Splice_Site_p.N343S|TAF7L_ENST00000372905.2_Splice_Site_p.N269S|TAF7L_ENST00000324762.6_Splice_Site_p.N269S	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	429					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CTGAAAATGATTCTGAAAAAT	0.303													C	100530268	T	C	100530268	5	2	299	1	0	0	0	0	0	0	1	0	15630	1507	52	3	110	3	TAF7L	23	100530268	Splice_Site	SNP	T	TCGA-CS-6666-01A-11D-1893-08	23611231	100530268	54740292	70	20650											
CASQ2	845	broad.mit.edu	37	chr1	116311162	116311162	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaagtgagttctcttcaTttgggaaaacttttgtttct	11	17	7	6	0	3	1	1	1	2	0	4	2	3	2	0	1	2	2	0	1	4	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr1:116311162T>C	ENST00000261448.5	-	1	240	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CASQ2_ENST00000456138.2_Start_Codon_SNP_p.M1V	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)	1					heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		GTTCTCTTCATTTGGGAAAAC	0.453													C	116311162	T	C	116311162	1	2	300	1	0	0	0	0	0	0	0	0	2707	1493	52	3		3	CASQ2	1	116311162	Translation_Start_Site	SNP	T	TCGA-CS-6667-01A-12D-2024-08		116311162	132939459	1	20651											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	300	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		209113112	34086261	2	20652											
ABCA12	26154	broad.mit.edu	37	chr2	215823176	215823176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcgattaaactgctgAttctagagtgagcaataggg	15	11	10	5	1	1	3	0	2	1	1	2	4	1	3	0	1	3	2	0	1	7	5			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:215823176A>G	ENST00000272895.7	-	41	6161	c.5942T>C	c.(5941-5943)aTc>aCc	p.I1981T	ABCA12_ENST00000389661.4_Missense_Mutation_p.I1663T|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1981					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACTGCTGATTCTAGAGTG	0.388													G	215823176	A	G	215823176	3	3	300	1	0	0	0	0	1	0	0	0	30	333	12	3	1897	3	ABCA12	2	215823176	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	6710064	215823176	27376197	3	20653											
CCDC108	255101	broad.mit.edu	37	chr2	219895549	219895549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctcaccagcagctgggcGcacttggctggggcagagat	8	7	15	11	1	1	1	1	0	0	1	1	2	1	1	1	4	3	6	1	4	0	1			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr2:219895549G>A	ENST00000341552.5	-	9	1106	c.1023C>T	c.(1021-1023)tgC>tgT	p.C341C	CCDC108_ENST00000441968.1_Silent_p.C341C|CCDC108_ENST00000409865.3_Silent_p.C330C|CCDC108_ENST00000410037.1_Silent_p.C276C|CCDC108_ENST00000453220.1_Silent_p.C341C	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	341						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCAGCTGGGCGCACTTGGCTG	0.637													A	219895549	G	A	219895549	2	1	300	1	0	0	0	0	0	0	0	1	2769	1079	38	1		1	CCDC108	2	219895549	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08	4072373	219895549	23303824	4	20654											
H1FOO	132243	broad.mit.edu	37	chr3	129268112	129268113	+	Frame_Shift_Ins	INS	-	-	G																															cagtcgggagaggctaggaaINSggtgccccccaagccagaca																										TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr3:129268112_129268113insG	ENST00000324382.2	+	3	652_653	c.647_648insG	c.(646-651)aaggtgfs	p.V217fs	H1FOO_ENST00000503977.1_Frame_Shift_Ins_p.V78fs	NM_153833.1	NP_722575.1	Q8IZA3	H1FOO_HUMAN	H1 histone family, member O, oocyte-specific	217					meiosis|nucleosome assembly	cytoplasm|nucleosome	DNA binding			endometrium(1)|lung(4)|skin(1)	6						GAGGCTAGGAAGGTGCCCCCCA	0.649													G	129268113	-	G	129268112	7	5	300	1	0	1	1	0	0	0	0	0	6977	72	3	0	657	0	H1FOO	3	129268112	Frame_Shift_Ins	INS	-	TCGA-CS-6667-01A-12D-2024-08		129268112	68754318	5	20655											
EPHA5	2044	broad.mit.edu	37	chr4	66201659	66201659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccttgtacctgcaggatGcattaaccagcgtcttcaga	9	11	10	11	1	2	1	1	0	1	1	2	2	2	2	3	2	5	3	3	2	2	4			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:66201659G>A	ENST00000273854.3	-	16	3443	c.2843C>T	c.(2842-2844)gCa>gTa	p.A948V	EPHA5_ENST00000432638.2_Missense_Mutation_p.A785V|EPHA5_ENST00000511294.1_Missense_Mutation_p.A949V|EPHA5_ENST00000354839.4_Missense_Mutation_p.A926V	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	948					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CCTGCAGGATGCATTAACCAG	0.403										TSP Lung(17;0.13)			A	66201659	G	A	66201659	3	1	300	1	0	0	0	0	1	0	0	0	5211	1319	46	2	282	2	EPHA5	4	66201659	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		66201659	124952617	6	20656											
FAT4	79633	broad.mit.edu	37	chr4	126239329	126239329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttagccagccagaagggtAtgatgtgtctgtggttgaga	10	12	14	5	0	1	3	0	2	1	2	1	4	1	3	2	2	2	2	2	2	3	4			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr4:126239329A>G	ENST00000394329.3	+	1	1776	c.1763A>G	c.(1762-1764)tAt>tGt	p.Y588C		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	588	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAAGGGTATGATGTGTCT	0.532													G	126239329	A	G	126239329	3	3	300	1	0	0	0	0	1	0	0	0	5741	449	16	3	1765	3	FAT4	4	126239329	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	60037670	126239329	64914947	7	20657											
GEMIN5	25929	broad.mit.edu	37	chr5	154270897	154270897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttacagagttgactctttTggtgttgtcggatcatttct	7	19	9	6	1	3	2	1	1	2	1	4	3	3	3	0	2	1	2	0	2	1	7			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr5:154270897T>C	ENST00000285873.7	-	26	4241	c.4166A>G	c.(4165-4167)cAa>cGa	p.Q1389R		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	1389					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TTGACTCTTTTGGTGTTGTCG	0.458													C	154270897	T	C	154270897	3	2	300	1	0	0	0	0	1	0	0	0	6387	1812	63	3	372	3	GEMIN5	5	154270897	Missense_Mutation	SNP	T	TCGA-CS-6667-01A-12D-2024-08		154270897	26644363	8	20658											
GRM4	2914	broad.mit.edu	37	chr6	33996059	33996059	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggtggaagaggatgatgtAgactttgggcatgtagagca	11	9	17	4	1	0	4	0	1	0	3	0	6	0	6	0	4	1	4	0	4	3	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr6:33996059A>C	ENST00000538487.2	-	10	2970	c.2527T>G	c.(2527-2529)Tac>Gac	p.Y843D	GRM4_ENST00000609222.1_Missense_Mutation_p.Y710D|GRM4_ENST00000374177.3_Missense_Mutation_p.Y727D|GRM4_ENST00000535756.1_Missense_Mutation_p.Y710D|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000544773.2_Missense_Mutation_p.Y674D|GRM4_ENST00000455714.2_Missense_Mutation_p.Y703D|GRM4_ENST00000374181.4_Missense_Mutation_p.Y843D	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGGATGATGTAGACTTTGGGC	0.607													C	33996059	A	C	33996059	3	2	300	1	0	0	0	0	1	0	0	0	6854	420	15	5	219	5	GRM4	6	33996059	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08		33996059	137119008	9	20659											
RARRES2	5919	broad.mit.edu	37	chr7	150037192	150037192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccccttcactcaccccAttgggcctgactttgcactc	7	10	5	19	0	2	1	2	1	0	0	3	1	2	1	5	1	1	1	5	1	0	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr7:150037192A>G	ENST00000466675.1	-	2	1309	c.276T>C	c.(274-276)aaT>aaC	p.N92N	RARRES2_ENST00000223271.3_Silent_p.N92N|RARRES2_ENST00000482669.1_Silent_p.N92N			Q99969	RARR2_HUMAN	retinoic acid receptor responder (tazarotene induced) 2	92					embryonic digestive tract development|in utero embryonic development|positive regulation of macrophage chemotaxis|retinoid metabolic process	extracellular matrix	receptor binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)	5			OV - Ovarian serous cystadenocarcinoma(82;0.011)			CACTCACCCCATTGGGCCTGA	0.567													G	150037192	A	G	150037192	2	3	300	1	0	0	0	0	0	0	0	1	13144	214	8	3		3	RARRES2	7	150037192	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08		150037192	9101471	10	20660											
KCNU1	157855	broad.mit.edu	37	chr8	36694322	36694322	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaacaggtttatctgccAaagattcccagctggaactg	12	10	10	9	0	1	1	0	0	1	1	2	3	2	3	2	3	4	2	2	3	4	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr8:36694322A>G	ENST00000399881.3	+	14	1414	c.1377A>G	c.(1375-1377)ccA>ccG	p.P459P		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	459	RCK N-terminal.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TTTATCTGCCAAAGATTCCCA	0.423													G	36694322	A	G	36694322	2	3	300	1	0	0	0	0	0	0	0	1	8151	117	5	3		3	KCNU1	8	36694322	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08		36694322	109669700	11	20661											
RAG2	5897	broad.mit.edu	37	chr11	36614246	36614246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttaagggtaggactctttgGggagtgtgtagagctcttgc	7	14	15	5	0	2	1	0	0	2	1	2	3	2	3	0	4	2	3	0	4	3	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:36614246G>A	ENST00000311485.3	-	2	1634	c.1473C>T	c.(1471-1473)ccC>ccT	p.P491P		NM_000536.3|NM_001243785.1|NM_001243786.1	NP_000527.2|NP_001230714.1|NP_001230715.1	P55895	RAG2_HUMAN	recombination activating gene 2	491					chromatin modification|pre-B cell allelic exclusion|somatic diversification of immunoglobulins|T cell differentiation in thymus|V(D)J recombination	nucleus	chromatin binding|DNA binding|endonuclease activity|methylated histone residue binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	32	all_lung(20;0.226)	all_hematologic(20;0.00756)				GGACTCTTTGGGGAGTGTGTA	0.448									Familial Hemophagocytic Lymphohistiocytosis				A	36614246	G	A	36614246	2	1	300	1	0	0	0	0	0	0	0	1	13093	1219	43	2		2	RAG2	11	36614246	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08		36614246	98392270	12	20662											
FOLH1B	219595	broad.mit.edu	37	chr11	89407164	89407165	+	RNA	INS	-	-	T																															cttcccaaaccatcaatgacINSttttttttttttccccaatc																								rs72449667		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													T	89407165	-	T	89407164	6	5	300	0	1	1	1	0	0	0	0	0	6029	580	20	0		0	FOLH1B	11	89407164	RNA	INS	-	TCGA-CS-6667-01A-12D-2024-08	52792918	89407164	45599352	13	20663											
ROBO3	64221	broad.mit.edu	37	chr11	124738751	124738751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatcgtggagcagccgccaGatctgctggtctcccgaggc	6	7	14	14	3	2	1	0	0	2	1	4	3	2	2	3	3	3	3	3	3	0	0			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:124738751G>A	ENST00000397801.1	+	2	406	c.214G>A	c.(214-216)Gat>Aat	p.D72N	ROBO3_ENST00000538940.1_Missense_Mutation_p.D50N	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	72	Ig-like C2-type 1.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GCAGCCGCCAGATCTGCTGGT	0.672													A	124738751	G	A	124738751	3	1	300	1	0	0	0	0	1	0	0	0	13606	942	33	2	220	2	ROBO3	11	124738751	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	35331587	124738751	10267765	14	20664											
OPCML	4978	broad.mit.edu	37	chr11	132527046	132527046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgcacagagcaggtgtaCggaccttcgtcatacacatc	10	9	10	12	2	2	1	1	0	1	1	4	2	2	2	1	2	4	3	1	2	2	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr11:132527046C>T	ENST00000331898.7	-	2	914	c.336G>A	c.(334-336)ccG>ccA	p.P112P	OPCML_ENST00000541867.1_Silent_p.P112P|OPCML_ENST00000524381.1_Silent_p.P105P|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Silent_p.P71P	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	112	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		AGCAGGTGTACGGACCTTCGT	0.502													T	132527046	C	T	132527046	2	4	300	1	0	0	0	0	0	0	0	1	10950	523	19	1		1	OPCML	11	132527046	Silent	SNP	C	TCGA-CS-6667-01A-12D-2024-08	7788295	132527046	2479470	15	20665											
FREM2	341640	broad.mit.edu	37	chr13	39454427	39454427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgtgctttctaggtcgctCtaggccgagaatggtatata	8	14	12	7	2	2	1	0	0	2	1	3	2	2	1	1	3	1	4	1	3	6	7	rs148812741		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr13:39454427C>G	ENST00000280481.7	+	24	9229	c.9013C>G	c.(9013-9015)Cta>Gta	p.L3005V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	3005					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		CTAGGTCGCTCTAGGCCGAGA	0.388													G	39454427	C	G	39454427	3	3	300	1	0	0	0	0	1	0	0	0	6097	912	32	4	9107	4	FREM2	13	39454427	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		39454427	75715451	16	20666											
TMX1	81542	broad.mit.edu	37	chr14	51713855	51713855	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcagggtccaaggactaaGaaggacttcataaactttat	15	11	8	7	0	2	1	2	0	0	1	3	3	3	3	1	3	1	0	1	3	7	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr14:51713855G>C	ENST00000457354.2	+	4	485	c.360G>C	c.(358-360)aaG>aaC	p.K120N		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	120	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						CAAGGACTAAGAAGGACTTCA	0.353													C	51713855	G	C	51713855	3	2	300	1	0	0	0	0	1	0	0	0	16366	933	33	4	374	4	TMX1	14	51713855	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		51713855	55635685	17	20667											
VPS13C	54832	broad.mit.edu	37	chr15	62302761	62302776	+	Frame_Shift_Del	DEL	CATGTAGAGTTTTGCA	CATGTAGAGTTTTGCA	-																															tctgattctgcataaggattCatgtagagttttgcagaggc																										TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr15:62302761_62302776delCATGTAGAGTTTTGCA	ENST00000261517.5	-	13	979_994	c.906_921delTGCAAAACTCTACATG	c.(904-921)tctgcaaaactctacatgfs	p.SAKLYM302fs	VPS13C_ENST00000249837.3_Frame_Shift_Del_p.SAKLYM259fs|VPS13C_ENST00000395896.4_Frame_Shift_Del_p.SAKLYM302fs|VPS13C_ENST00000395898.3_Frame_Shift_Del_p.SAKLYM259fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	302					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATAAGGATTCATGTAGAGTTTTGCAGAGGCTGATA	0.352													-	62302776	CATGTAGAGTTTTGCA	-	62302761	7	5	300	1	0	1	0	1	0	0	0	0	17293	826	29	0	10660	0	VPS13C	15	62302761	Frame_Shift_Del	DEL	CATGTAGAGTTTTGCA	TCGA-CS-6667-01A-12D-2024-08		62302761	40228631	18	20668											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr17:7578550G>A	ENST00000420246.2	-	5	512	c.380C>T	c.(379-381)tCc>tTc	p.S127F	TP53_ENST00000455263.2_Missense_Mutation_p.S127F|TP53_ENST00000269305.4_Missense_Mutation_p.S127F|TP53_ENST00000359597.4_Missense_Mutation_p.S127F|TP53_ENST00000413465.2_Missense_Mutation_p.S127F|TP53_ENST00000445888.2_Missense_Mutation_p.S127F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GAGGGCAGGGGAGTACTGTAG	0.552		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)			A	7578550	G	A	7578550	3	1	300	1	0	0	0	0	1	0	0	0	16482	1174	41	2	918	2	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		7578550	73616660	19	20669											
SMARCA4	6597	broad.mit.edu	37	chr19	11143993	11143993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgcaggaccgagcccacCgcatcgggcagcagaacgag	12	1	14	14	5	0	1	0	0	0	1	1	4	0	2	3	2	4	4	3	2	2	0			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:11143993C>T	ENST00000358026.2	+	26	3858	c.3574C>T	c.(3574-3576)Cgc>Tgc	p.R1192C	SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.R1192C(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGAGCCCACCGCATCGGGCA	0.607			"F, N, Mis"		NSCLC								T	11143993	C	T	11143993	3	4	300	1	0	0	0	0	1	0	0	0	14864	652	23	1	3672	1	SMARCA4	19	11143993	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08		11143993	47984990	20	20670											
CASP14	23581	broad.mit.edu	37	chr19	15166067	15166067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacacagatgccttgcacGtttattccacggtagagggt	10	11	10	10	2	0	2	0	0	0	2	1	2	1	2	2	2	3	3	2	2	3	6	rs148526551		TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:15166067G>A	ENST00000427043.3	+	5	810	c.502G>A	c.(502-504)Gtt>Att	p.V168I	CASP14_ENST00000221740.1_Missense_Mutation_p.V168I	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	168					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						TGCCTTGCACGTTTATTCCAC	0.547													A	15166067	G	A	15166067	3	1	300	1	0	0	0	0	1	0	0	0	2696	1145	40	1	516	1	CASP14	19	15166067	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	4022074	15166067	43962916	21	20671											
WDR62	284403	broad.mit.edu	37	chr19	36572456	36572456	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgattctcactggcagaAaaacatcttcagcaatgtga	13	10	7	11	0	3	3	2	2	2	1	4	3	3	3	1	1	2	2	1	1	3	2			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr19:36572456A>T	ENST00000401500.2	+	10	1390	c.1355A>T	c.(1354-1356)aAa>aTa	p.K452I	WDR62_ENST00000388999.3_Missense_Mutation_p.K452I|WDR62_ENST00000270301.7_Missense_Mutation_p.K452I	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	452					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CACTGGCAGAAAAACATCTTC	0.473													T	36572456	A	T	36572456	3	4	300	1	0	0	0	0	1	0	0	0	17415	14	1	5	1393	5	WDR62	19	36572456	Missense_Mutation	SNP	A	TCGA-CS-6667-01A-12D-2024-08	21406389	36572456	22556527	22	20672											
IL17REL	400935	broad.mit.edu	37	chr22	50435799	50435799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcgttggcaggcagggaGctgtgacttcctcctgtgac	5	11	15	10	1	0	2	0	2	0	0	2	3	2	3	2	3	2	4	2	3	0	2			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chr22:50435799G>A	ENST00000389983.2	-	13	1188	c.924C>T	c.(922-924)agC>agT	p.S308S	IL17REL_ENST00000341280.5_Silent_p.S308S	NM_001001694.2	NP_001001694.2	Q6ZVW7	I17EL_HUMAN	interleukin 17 receptor E-like	308										endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGGCAGGGAGCTGTGACTTC	0.667													A	50435799	G	A	50435799	2	1	300	1	0	0	0	0	0	0	0	1	7702	962	34	2		2	IL17REL	22	50435799	Silent	SNP	G	TCGA-CS-6667-01A-12D-2024-08		50435799	868767	23	20673											
WWC3	55841	broad.mit.edu	37	chrX	10106879	10106879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtgagctgcggcagcGgttggaggacgcccagctcc	5	6	15	15	4	0	1	0	1	0	0	2	3	2	3	4	4	4	4	4	4	0	1			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:10106879G>A	ENST00000380861.4	+	21	3378	c.2987G>A	c.(2986-2988)cGg>cAg	p.R996Q	WWC3_ENST00000454666.1_Missense_Mutation_p.R996Q	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	996										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CTGCGGCAGCGGTTGGAGGAC	0.701													A	10106879	G	A	10106879	3	1	300	1	0	0	0	0	1	0	0	0	17515	1116	39	1	3065	1	WWC3	23	10106879	Missense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08		10106879	145163681	24	20674											
POLA1	5422	broad.mit.edu	37	chrX	24753561	24753561	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaaagaacactgctaggtTttttccttgcaaaagttcac	13	12	7	9	0	1	2	1	0	0	2	2	2	2	2	1	1	3	4	1	1	5	6			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:24753561T>A	ENST00000379068.3	+	18	1922	c.1879T>A	c.(1879-1881)Ttt>Att	p.F627I	POLA1_ENST00000379059.3_Missense_Mutation_p.F621I			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	621					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ACTGCTAGGTTTTTTCCTTGC	0.393													A	24753561	T	A	24753561	3	1	300	1	0	0	0	0	1	0	0	0	12264	1841	64	5	1931	5	POLA1	23	24753561	Missense_Mutation	SNP	T	TCGA-CS-6667-01A-12D-2024-08	14646682	24753561	130516999	25	20675											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999088	27999088	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggttggtgccaccgcatcGtggacacatccgaggctgtt	7	10	13	11	3	0	0	0	0	0	0	2	2	1	1	3	4	1	4	3	4	0	2			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:27999088G>A	ENST00000441525.1	-	1	478	c.364C>T	c.(364-366)Cga>Tga	p.R122*		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	122										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCACCGCATCGTGGACACATC	0.547													A	27999088	G	A	27999088	4	1	300	1	0	0	0	0	0	1	0	0	4311	1153	40	1	1442	1	DCAF8L1	23	27999088	Nonsense_Mutation	SNP	G	TCGA-CS-6667-01A-12D-2024-08	3245527	27999088	127271472	26	20676											
ZNF157	7712	broad.mit.edu	37	chrX	47272249	47272249	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccttttctgagaaggcAaccctcacgattcatcagag	14	9	7	11	1	4	2	3	1	1	2	4	4	4	2	2	1	2	1	2	1	4	3			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:47272249A>C	ENST00000377073.3	+	4	863	c.777A>C	c.(775-777)gcA>gcC	p.A259A		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	259					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						CTGAGAAGGCAACCCTCACGA	0.438													C	47272249	A	C	47272249	2	2	300	1	0	0	0	0	0	0	0	1	17838	117	5	5		5	ZNF157	23	47272249	Silent	SNP	A	TCGA-CS-6667-01A-12D-2024-08	19273161	47272249	107998311	27	20677											
KCND1	3750	broad.mit.edu	37	chrX	48826090	48826090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggcgatgaccgacacggCgatgaagaagccggtcacat	12	6	13	10	5	1	3	1	2	0	1	1	6	1	3	2	3	1	0	2	3	2	1			TCGA-CS-6667-01A-12D-2024-08	TCGA-CS-6667-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c14ddc3-acf0-4f96-bdb6-eb517d1da522	49ca5323-38a1-4786-b6aa-66de49b053a1	g.chrX:48826090C>T	ENST00000218176.3	-	1	1886	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	197						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						ACCGACACGGCGATGAAGAAG	0.642													T	48826090	C	T	48826090	3	4	300	1	0	0	0	0	1	0	0	0	8076	768	27	1	1378	1	KCND1	23	48826090	Missense_Mutation	SNP	C	TCGA-CS-6667-01A-12D-2024-08	1553841	48826090	106444470	28	20678											
PRAMEF1	65121	broad.mit.edu	37	chr1	12853498	12853498	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctatctcccactcttcaTggaggccttcagcaggagac	8	10	9	14	0	5	1	2	0	3	1	6	3	5	2	2	3	1	2	2	3	1	3	rs149824309		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:12853498T>G	ENST00000332296.7	+	2	225	c.122T>G	c.(121-123)aTg>aGg	p.M41R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	41										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CCACTCTTCATGGAGGCCTTC	0.587													G	12853498	T	G	12853498	3	3	301	1	0	0	0	0	1	0	0	0	12507	1464	51	5	124	5	PRAMEF1	1	12853498	Missense_Mutation	SNP	T	TCGA-CS-6668-01A-11D-1893-08		12853498	236397123	1	20679											
PKP1	5317	broad.mit.edu	37	chr1	201282317	201282317	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacaatggaaccctcaagcgGgagcctgacaacaggcgctt	12	6	11	12	2	1	1	1	1	0	0	1	3	1	3	2	3	5	1	2	3	5	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr1:201282317G>A	ENST00000263946.3	+	3	581	c.330G>A	c.(328-330)cgG>cgA	p.R110R	PKP1_ENST00000352845.3_Silent_p.R110R|PKP1_ENST00000367324.3_Silent_p.R110R	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	110					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCCTCAAGCGGGAGCCTGACA	0.592													A	201282317	G	A	201282317	2	1	301	1	0	0	0	0	0	0	0	1	12061	1219	43	2		2	PKP1	1	201282317	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	188428819	201282317	47968304	2	20680											
RNF103	7844	broad.mit.edu	37	chr2	86831209	86831209	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccaagttaaccaatcaggTtccatatcttcattagtgtt	11	14	7	9	0	3	0	2	0	1	0	4	0	4	0	3	2	1	3	3	2	5	6			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:86831209T>C	ENST00000237455.4	-	4	2783	c.1815A>G	c.(1813-1815)gaA>gaG	p.E605E	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	605					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACCAATCAGGTTCCATATCTT	0.413													C	86831209	T	C	86831209	2	2	301	1	0	0	0	0	0	0	0	1	13514	1722	60	3		3	RNF103	2	86831209	Silent	SNP	T	TCGA-CS-6668-01A-11D-1893-08		86831209	156368164	3	20681											
LRP1B	53353	broad.mit.edu	37	chr2	142567938	142567938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtcacgtgatcgtggcAaagaaattcaccaggatcac	15	7	9	10	2	3	2	3	1	0	1	4	3	3	3	1	2	0	1	1	2	3	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:142567938A>G	ENST00000389484.3	-	2	1086	c.115T>C	c.(115-117)Tgc>Cgc	p.C39R	LRP1B_ENST00000486364.1_5'UTR	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	39	LDL-receptor class A 1.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCGTGGCAAAGAAATTCA	0.443										TSP Lung(27;0.18)			G	142567938	A	G	142567938	3	3	301	1	0	0	0	0	1	0	0	0	9025	130	5	3	14044	3	LRP1B	2	142567938	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	55736729	142567938	100631435	4	20682											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	301	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	66545174	209113112	34086261	5	20683											
FBXO36	130888	broad.mit.edu	37	chr2	230861511	230861511	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaatattagactatgtcAtcaatttgtgcaaaggtaaa	17	12	7	5	0	2	2	2	0	0	2	2	2	2	2	0	1	1	2	0	1	9	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr2:230861511A>G	ENST00000373652.3	+	4	578	c.157A>G	c.(157-159)Atc>Gtc	p.I53V	FBXO36_ENST00000283946.3_Missense_Mutation_p.I84V|FBXO36_ENST00000409992.1_Intron			Q8NEA4	FBX36_HUMAN	F-box protein 36	84										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		AGACTATGTCATCAATTTGTG	0.348													G	230861511	A	G	230861511	3	3	301	1	0	0	0	0	1	0	0	0	5794	217	8	3	260	3	FBXO36	2	230861511	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	21748399	230861511	12337862	6	20684											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69													-	1038449	CAC	-	1038447	7	5	301	1	0	1	0	1	0	0	0	0	10518	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-CS-6668-01A-11D-1893-08		1038447	179876813	7	20685											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764645	140764645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaagtcacgcctgctgcagGcttcagaaggtggcttggcg	8	8	14	11	2	2	1	2	0	0	1	2	1	2	1	1	4	2	4	1	4	2	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr5:140764645G>A	ENST00000518325.1	+	1	2179	c.2179G>A	c.(2179-2181)Gct>Act	p.A727T	PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGCTGCAGGCTTCAGAAGG	0.637													A	140764645	G	A	140764645	3	1	301	1	0	0	0	0	1	0	0	0	11635	1203	42	2	2181	2	PCDHGA7	5	140764645	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	139726198	140764645	40150615	8	20686											
RING1	6015	broad.mit.edu	37	chr6	33178997	33178997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacgatgagtgggggggAaggagagcccggggagggag	11	2	22	6	2	0	2	0	1	0	1	0	7	0	5	1	7	2	0	1	7	2	0			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr6:33178997A>G	ENST00000374656.4	+	5	726	c.518A>G	c.(517-519)gAa>gGa	p.E173G	RING1_ENST00000478431.1_3'UTR	NM_002931.3	NP_002922.2	Q06587	RING1_HUMAN	ring finger protein 1	173	Necessary for transcriptional repression (By similarity).				histone H2A monoubiquitination|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear speck|PcG protein complex	protein binding|zinc ion binding			endometrium(5)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|skin(4)	17						AGTGGGGGGGAAGGAGAGCCC	0.632													G	33178997	A	G	33178997	3	3	301	1	0	0	0	0	1	0	0	0	13465	246	9	3	532	3	RING1	6	33178997	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08		33178997	137936070	9	20687											
CLIP2	7461	broad.mit.edu	37	chr7	73731911	73731911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgaagccccccggccGtggggggaagcactccagcc	6	3	15	17	3	0	1	0	1	0	0	1	2	1	2	7	5	3	1	7	5	2	0	rs151111065	byFrequency	TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:73731911G>A	ENST00000223398.6	+	2	362	c.35G>A	c.(34-36)cGt>cAt	p.R12H	CLIP2_ENST00000395060.1_Missense_Mutation_p.R12H|CLIP2_ENST00000361545.5_Missense_Mutation_p.R12H	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	12						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CCCCCCGGCCGTGGGGGGAAG	0.662													A	73731911	G	A	73731911	3	1	301	1	0	0	0	0	1	0	0	0	3564	1145	40	1	37	1	CLIP2	7	73731911	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		73731911	85406752	10	20688											
SRRM3	222183	broad.mit.edu	37	chr7	75896665	75896665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttccccgtcgggcggcagcgGatgggggtcgccccagcgga	4	5	18	14	6	0	0	0	0	0	0	3	2	1	2	4	6	2	1	4	6	0	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:75896665G>A	ENST00000388802.4	+	11	1129	c.920G>A	c.(919-921)gGa>gAa	p.G307E	SRRM3_ENST00000326382.8_Missense_Mutation_p.G307E|SRRM3_ENST00000464752.1_3'UTR					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						GGCGGCAGCGGATGGGGGTCG	0.751													A	75896665	G	A	75896665	3	1	301	1	0	0	0	0	1	0	0	0	15266	1174	41	2	958	2	SRRM3	7	75896665	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	2164754	75896665	83241998	11	20689											
DLX5	1749	broad.mit.edu	37	chr7	96650149	96650149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacttgtgtaccaggatgCagagttctccaggtagctgg	8	11	13	9	0	1	1	0	0	1	1	2	2	1	2	2	3	4	6	2	3	2	4			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:96650149C>T	ENST00000222598.4	-	3	1242	c.769G>A	c.(769-771)Gca>Aca	p.A257T	DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	257					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TACCAGGATGCAGAGTTCTCC	0.652													T	96650149	C	T	96650149	3	4	301	1	0	0	0	0	1	0	0	0	4613	710	25	2	104	2	DLX5	7	96650149	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	20753484	96650149	62488514	12	20690											
MKLN1	4289	broad.mit.edu	37	chr7	131128404	131128404	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttcgagaggactcctgTaatgctgggcctgaggacat	8	11	12	10	1	1	2	0	1	1	1	3	5	2	4	2	3	1	2	2	3	1	3			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr7:131128404T>C	ENST00000352689.6	+	11	1378	c.1338T>C	c.(1336-1338)tgT>tgC	p.C446C	MKLN1_ENST00000421797.2_Silent_p.C354C	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	446					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					AGGACTCCTGTAATGCTGGGC	0.448													C	131128404	T	C	131128404	2	2	301	1	0	0	0	0	0	0	0	1	9678	1644	57	3		3	MKLN1	7	131128404	Silent	SNP	T	TCGA-CS-6668-01A-11D-1893-08	34478255	131128404	28010259	13	20691											
KIAA0368	23392	broad.mit.edu	37	chr9	114170943	114170943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagtgtttggattgctcGttctttcatctggaagaaca	8	15	9	9	1	3	1	1	0	2	1	5	3	4	3	1	2	2	3	1	2	2	4			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:114170943G>A	ENST00000259335.4	-	25	3093	c.3094C>T	c.(3094-3096)Cga>Tga	p.R1032*	KIAA0368_ENST00000338205.5_Nonsense_Mutation_p.R854*	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						TGGATTGCTCGTTCTTTCATC	0.398													A	114170943	G	A	114170943	4	1	301	1	0	0	0	0	0	1	0	0	8229	1153	40	1	3067	1	KIAA0368	9	114170943	Nonsense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		114170943	27042488	14	20692											
MORN5	254956	broad.mit.edu	37	chr9	124932034	124932034	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatggcttgaagcctgcAggtacccaggcacccaccct	9	7	9	16	0	1	1	1	1	0	0	1	1	1	1	4	3	3	4	4	3	3	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:124932034A>G	ENST00000536616.1	+	3	344	c.306A>G	c.(304-306)gcA>gcG	p.A102A	MORN5_ENST00000373764.3_Splice_Site_p.A102A|MORN5_ENST00000486801.1_Intron			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	102										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TGAAGCCTGCAGGTACCCAGG	0.478													G	124932034	A	G	124932034	5	3	301	1	0	0	0	0	0	0	1	0	9787	202	7	3	316	3	MORN5	9	124932034	Splice_Site	SNP	A	TCGA-CS-6668-01A-11D-1893-08	10761091	124932034	16281397	15	20693											
NOTCH1	4851	broad.mit.edu	37	chr9	139413126	139413126	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaggcggcgctggcaCagtcatcaatgttctcgctg	8	8	14	11	3	3	0	2	0	1	0	4	1	3	1	0	4	1	5	0	4	2	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr9:139413126C>G	ENST00000277541.6	-	6	1091	c.1016G>C	c.(1015-1017)tGt>tCt	p.C339S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	339	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGCTGGCACAGTCATCAAT	0.637			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G	139413126	C	G	139413126	3	3	301	1	0	0	0	0	1	0	0	0	10623	478	17	4	6767	4	NOTCH1	9	139413126	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	14481092	139413126	1800305	16	20694											
PLCE1	51196	broad.mit.edu	37	chr10	96084175	96084175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caagcgactatgtgcttttgGaagaggtggtgaaagacact	12	10	13	6	1	0	3	0	1	0	2	0	5	0	4	0	3	2	1	0	3	4	3			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr10:96084175G>A	ENST00000371380.3	+	30	6806	c.6571G>A	c.(6571-6573)Gaa>Aaa	p.E2191K	PLCE1_ENST00000260766.3_Missense_Mutation_p.E2191K|NOC3L_ENST00000543788.1_Intron|PLCE1_ENST00000371375.1_Missense_Mutation_p.E1883K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E1883K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Ras-associating 2.				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TGTGCTTTTGGAAGAGGTGGT	0.448													A	96084175	G	A	96084175	3	1	301	1	0	0	0	0	1	0	0	0	12111	1175	41	2	6975	2	PLCE1	10	96084175	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		96084175	39450572	17	20695											
RNH1	6050	broad.mit.edu	37	chr11	498031	498031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcacagctcccgcacgcccGcatcctccagcctgttgttg	5	8	10	18	3	0	0	0	0	0	0	3	0	3	0	5	1	2	6	5	1	0	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:498031G>A	ENST00000534797.1	-	7	2474	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	RNH1_ENST00000438658.2_Missense_Mutation_p.A356V|RNH1_ENST00000397615.2_Missense_Mutation_p.A356V|RNH1_ENST00000533410.1_Missense_Mutation_p.A356V|RNH1_ENST00000397604.3_Missense_Mutation_p.A356V|RNH1_ENST00000397614.1_Missense_Mutation_p.A356V|RNH1_ENST00000354420.2_Missense_Mutation_p.A356V|RNH1_ENST00000356187.5_Missense_Mutation_p.A356V			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	356					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACGCCCGCATCCTCCAG	0.612													A	498031	G	A	498031	3	1	301	1	0	0	0	0	1	0	0	0	13595	1087	38	1	330	1	RNH1	11	498031	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		498031	134508485	18	20696											
LTBP3	4054	broad.mit.edu	37	chr11	65321228	65321228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggggcttctgggtgggcgGccgggggtgcgagggcttgg	2	7	24	8	3	1	0	0	0	1	0	1	1	1	0	1	9	1	2	1	9	0	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:65321228G>A	ENST00000301873.5	-	3	1076	c.808C>T	c.(808-810)Ccg>Tcg	p.P270S	LTBP3_ENST00000536982.1_Intron|LTBP3_ENST00000322147.4_Missense_Mutation_p.P270S	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	270						extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TGGGTGGGCGGCCGGGGGTGC	0.677													A	65321228	G	A	65321228	3	1	301	1	0	0	0	0	1	0	0	0	9145	1203	42	2	3207	2	LTBP3	11	65321228	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08	64823197	65321228	69685288	19	20697											
UNC93B1	81622	broad.mit.edu	37	chr11	67764189	67764189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagctggaagatgttgcCccagcccacgctgcgcagat	8	6	14	13	2	0	2	0	0	0	2	0	3	0	3	3	2	4	5	3	2	1	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:67764189C>T	ENST00000227471.2	-	9	1049	c.970G>A	c.(970-972)Ggc>Agc	p.G324S	UNC93B1_ENST00000530331.1_5'UTR	NM_030930.2	NP_112192.2	Q9H1C4	UN93B_HUMAN	unc-93 homolog B1 (C. elegans)	325					innate immune response|intracellular protein transport|response to virus|toll-like receptor 3 signaling pathway|toll-like receptor 7 signaling pathway|toll-like receptor 9 signaling pathway	early phagosome|endoplasmic reticulum membrane|endosome|integral to membrane|lysosome											AAGATGTTGCCCCAGCCCACG	0.622													T	67764189	C	T	67764189	3	4	301	1	0	0	0	0	1	0	0	0	17099	623	22	2	836	2	UNC93B1	11	67764189	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	2442961	67764189	67242327	20	20698											
NCAM1	4684	broad.mit.edu	37	chr11	113102455	113102456	+	In_Frame_Ins	INS	-	-	CCCTCT																															tacactgatgccggagagtaINScatctgcaccgccagcaaca																										TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:113102455_113102456insCCCTCT	ENST00000316851.7	+	9	1148_1149	c.1148_1149insCCCTCT	c.(1147-1152)tacatc>taCCCTCTcatc	p.383_384YI>YPLI	NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_In_Frame_Ins_p.392_393YI>YPLI|NCAM1_ENST00000533760.1_In_Frame_Ins_p.265_266YI>YPLI	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	393	Ig-like C2-type 4.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GCCGGAGAGTACATCTGCACCG	0.594													CCCTCT	113102456	-	CCCTCT	113102455	7	5	301	1	0	1	1	0	0	0	0	0	10278	391	14	0	1217	0	NCAM1	11	113102455	In_Frame_Ins	INS	-	TCGA-CS-6668-01A-11D-1893-08	45338266	113102455	21904061	21	20699											
BCL9L	283149	broad.mit.edu	37	chr11	118779318	118779318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaatgaccgcggggggAcagcggcgggctccctggag	6	3	21	11	4	0	1	0	1	0	0	1	3	1	3	2	8	1	2	2	8	1	0			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr11:118779318A>G	ENST00000334801.3	-	2	1037	c.73T>C	c.(73-75)Tcc>Ccc	p.S25P	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	25					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CCGCGGGGGGACAGCGGCGGG	0.592													G	118779318	A	G	118779318	3	3	301	1	0	0	0	0	1	0	0	0	1387	275	10	3	4454	3	BCL9L	11	118779318	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	5676863	118779318	16227198	22	20700											
NT5DC3	51559	broad.mit.edu	37	chr12	104179169	104179169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggtcatggtttgaatgtAttgctccgtgttcatgattt	7	17	10	7	1	2	2	2	2	0	0	3	2	3	2	2	2	1	4	2	2	2	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:104179169A>G	ENST00000392876.3	-	12	1313	c.1273T>C	c.(1273-1275)Tac>Cac	p.Y425H		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	425							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						GTTTGAATGTATTGCTCCGTG	0.428													G	104179169	A	G	104179169	3	3	301	1	0	0	0	0	1	0	0	0	10768	449	16	3	385	3	NT5DC3	12	104179169	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08		104179169	29672726	23	20701											
TCP11L2	255394	broad.mit.edu	37	chr12	106729466	106729466	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaatctgtaaatgaagaAttattttctctttctgagag	15	15	7	4	0	3	4	0	2	3	3	4	5	3	4	0	0	0	1	0	0	7	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr12:106729466A>C	ENST00000299045.3	+	7	996	c.822A>C	c.(820-822)gaA>gaC	p.E274D		NM_152772.1	NP_689985.1	Q8N4U5	T11L2_HUMAN	t-complex 11, testis-specific-like 2	274										endometrium(2)|kidney(2)|large_intestine(5)|ovary(3)|prostate(1)|urinary_tract(2)	15						TAAATGAAGAATTATTTTCTC	0.398													C	106729466	A	C	106729466	3	2	301	1	0	0	0	0	1	0	0	0	15815	98	4	5	844	5	TCP11L2	12	106729466	Missense_Mutation	SNP	A	TCGA-CS-6668-01A-11D-1893-08	2550297	106729466	27122429	24	20702											
TCF12	6938	broad.mit.edu	37	chr15	57523456	57523457	+	Splice_Site	INS	-	-	T																															agcactttctttatgcaaggINStaagtactaccaaacaattg																										TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:57523456_57523457insT	ENST00000267811.5	+	9	989		c.e9+1		TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000452095.2_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TTTATGCAAGGTAAGTACTACC	0.386			T	TEC	extraskeletal myxoid chondrosarcoma								T	57523457	-	T	57523456	8	5	301	1	0	1	1	0	0	0	1	0	15787	1275	44	0	789	0	TCF12	15	57523456	Splice_Site	INS	-	TCGA-CS-6668-01A-11D-1893-08		57523456	45007936	25	20703											
POLG	5428	broad.mit.edu	37	chr15	89864982	89864982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacccgggcattgctggcGgtgagccatgtgggctccac	6	8	14	13	2	0	1	0	1	0	0	1	1	1	1	3	4	3	3	3	4	1	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr15:89864982G>A	ENST00000268124.5	-	16	2916	c.2583C>T	c.(2581-2583)acC>acT	p.T861T	POLG_ENST00000442287.2_Silent_p.T861T	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	861					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CATTGCTGGCGGTGAGCCATG	0.602								DNA polymerases (catalytic subunits)					A	89864982	G	A	89864982	2	1	301	1	0	0	0	0	0	0	0	1	12277	1103	39	1		1	POLG	15	89864982	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	32341526	89864982	12666410	26	20704											
MARVELD3	91862	broad.mit.edu	37	chr16	71668568	71668568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcggtttcggctgcagtttCcacggagcagatataggagc	9	9	14	9	3	0	1	0	0	0	1	2	3	1	3	1	4	4	5	1	4	2	4			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr16:71668568C>T	ENST00000268485.3	+	3	1112	c.1068C>T	c.(1066-1068)ttC>ttT	p.F356F	MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000565261.1_Intron	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	356	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GCTGCAGTTTCCACGGAGCAG	0.542													T	71668568	C	T	71668568	2	4	301	1	0	0	0	0	0	0	0	1	9394	854	30	2		2	MARVELD3	16	71668568	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		71668568	18686185	27	20705											
OR1A1	8383	broad.mit.edu	37	chr17	3119076	3119076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccatttgctctgatgttcgCcttcacaaccccatgtattt	7	15	6	13	1	2	1	1	1	1	0	3	1	2	1	4	0	2	3	4	0	2	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr17:3119076C>T	ENST00000304094.1	+	1	162	c.162C>T	c.(160-162)cgC>cgT	p.R54R		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						CTGATGTTCGCCTTCACAACC	0.458													T	3119076	C	T	3119076	2	4	301	1	0	0	0	0	0	0	0	1	11025	726	26	2		2	OR1A1	17	3119076	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		3119076	78076134	28	20706											
KRT34	3885	broad.mit.edu	37	chr17	39538275	39538275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtcccgctccagctgaCgcaccttctccaggtagctg	5	10	10	16	3	1	1	0	1	1	0	4	1	3	1	4	1	2	6	4	1	1	3			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr17:39538275C>T	ENST00000394001.1	-	1	380	c.350G>A	c.(349-351)cGt>cAt	p.R117H		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	117	Coil 1A.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CTCCAGCTGACGCACCTTCTC	0.597													T	39538275	C	T	39538275	3	4	301	1	0	0	0	0	1	0	0	0	8529	536	19	1	988	1	KRT34	17	39538275	Missense_Mutation	SNP	C	TCGA-CS-6668-01A-11D-1893-08	36419199	39538275	41656935	29	20707											
DSG2	1829	broad.mit.edu	37	chr18	29102122	29102122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaaaatttcctatagaatCgtatctctggagcctgctta	11	14	7	9	2	1	1	0	0	1	1	5	3	2	2	2	1	2	2	2	1	7	5			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:29102122C>T	ENST00000261590.8	+	6	809	c.600C>T	c.(598-600)atC>atT	p.I200I	DSG2_ENST00000585206.1_Silent_p.I200I	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	200	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCTATAGAATCGTATCTCTGG	0.378													T	29102122	C	T	29102122	2	4	301	1	0	0	0	0	0	0	0	1	4816	874	31	1		1	DSG2	18	29102122	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		29102122	48975126	30	20708											
KCNG2	26251	broad.mit.edu	37	chr18	77624219	77624219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcgcctgcgtgtccgtGtccttcgtggccgtcacggc	1	12	12	16	6	2	0	1	0	1	0	6	0	4	0	4	2	1	0	4	2	0	2			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr18:77624219G>A	ENST00000316249.3	+	1	552	c.552G>A	c.(550-552)gtG>gtA	p.V184V		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	184					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GCGTGTCCGTGTCCTTCGTGG	0.766													A	77624219	G	A	77624219	2	1	301	1	0	0	0	0	0	0	0	1	8086	1364	48	2		2	KCNG2	18	77624219	Silent	SNP	G	TCGA-CS-6668-01A-11D-1893-08	48522097	77624219	453029	31	20709											
CD97	976	broad.mit.edu	37	chr19	14508025	14508025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaatggcccaaacaatacCgtctgtgaaggtcgagagct	12	7	10	12	2	1	2	0	1	1	1	2	3	1	2	3	2	3	1	3	2	5	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr19:14508025C>T	ENST00000242786.5	+	6	695	c.615C>T	c.(613-615)acC>acT	p.T205T	CD97_ENST00000587728.1_Intron|CD97_ENST00000358600.3_Intron|CD97_ENST00000357355.3_Intron	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	205	EGF-like 4; calcium-binding (Potential).				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						CAAACAATACCGTCTGTGAAG	0.587													T	14508025	C	T	14508025	2	4	301	1	0	0	0	0	0	0	0	1	3079	639	23	1		1	CD97	19	14508025	Silent	SNP	C	TCGA-CS-6668-01A-11D-1893-08		14508025	44620958	32	20710											
CIC	23152	broad.mit.edu	37	chr19	42795074	42795075	+	Frame_Shift_Ins	INS	-	-	G																															gcactgggtctcgggtgcctINSgggggctccccgctgggtgt																										TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr19:42795074_42795075insG	ENST00000572681.2	+	11	4949_4950	c.4881_4882insG	c.(4882-4884)gggfs	p.G1628fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.G719fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.G719fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	719					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCGGGTGCCTGGGGGCTCCCC	0.644			"Mis, F, S"		oligodendroglioma								G	42795075	-	G	42795074	7	5	301	1	0	1	1	0	0	0	0	0	3454	1567	55	0	2192	0	CIC	19	42795074	Frame_Shift_Ins	INS	-	TCGA-CS-6668-01A-11D-1893-08	28287049	42795074	16333909	33	20711											
ARFGEF2	10564	broad.mit.edu	37	chr20	47626800	47626800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggacatggcgatccgcTgcattgcccagatggtgaac	8	8	13	12	3	0	2	0	1	0	1	2	4	2	3	3	3	3	2	3	3	1	1			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chr20:47626800T>C	ENST00000371917.4	+	27	3616	c.3616T>C	c.(3616-3618)Tgc>Cgc	p.C1206R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1206					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GGCGATCCGCTGCATTGCCCA	0.537													C	47626800	T	C	47626800	3	2	301	1	0	0	0	0	1	0	0	0	856	1580	55	3	3722	3	ARFGEF2	20	47626800	Missense_Mutation	SNP	T	TCGA-CS-6668-01A-11D-1893-08		47626800	15398720	34	20712											
VSIG4	11326	broad.mit.edu	37	chrX	65247365	65247365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggactgcttcactgtagatGttgctatgaatatagagaat	13	13	10	5	0	1	3	1	1	0	2	1	5	1	4	0	1	2	4	0	1	6	6			TCGA-CS-6668-01A-11D-1893-08	TCGA-CS-6668-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d414e076-dcb6-4edf-adef-0abdc57354ea	7154a36b-c503-43f5-b291-89bd5ce2875f	g.chrX:65247365G>A	ENST00000455586.2	-	5	887	c.761C>T	c.(760-762)aCa>aTa	p.T254I	VSIG4_ENST00000374737.4_Missense_Mutation_p.T254I|VSIG4_ENST00000412866.2_Missense_Mutation_p.T160I	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	254					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CACTGTAGATGTTGCTATGAA	0.468													A	65247365	G	A	65247365	3	1	301	1	0	0	0	0	1	0	0	0	17327	1377	48	2	458	2	VSIG4	23	65247365	Missense_Mutation	SNP	G	TCGA-CS-6668-01A-11D-1893-08		65247365	90023195	35	20713											
LGI2	55203	broad.mit.edu	37	chr4	25005303	25005303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgattatctttaaaagaaaAgggctgcagggtcatggccc	12	10	12	7	0	2	2	1	1	1	1	2	2	2	2	1	3	1	2	1	3	5	3			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr4:25005303A>G	ENST00000382114.4	-	8	1593	c.1408T>C	c.(1408-1410)Ttt>Ctt	p.F470L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	470						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				TTAAAAGAAAAGGGCTGCAGG	0.488													G	25005303	A	G	25005303	3	3	302	1	0	0	0	0	1	0	0	0	8812	72	3	3	233	3	LGI2	4	25005303	Missense_Mutation	SNP	A	TCGA-CS-6669-01A-11D-1893-08		25005303	166148973	1	20714											
MOCS1	4337	broad.mit.edu	37	chr6	39893572	39893572	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggtcagcgggaccccctcctCgggcatgcagtactgacctg	6	7	13	15	2	1	1	1	1	0	0	3	2	2	2	4	3	3	3	4	3	1	1	rs147580725		TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr6:39893572C>G	ENST00000373186.4	-	2	405	c.268G>C	c.(268-270)Gag>Cag	p.E90Q	MOCS1_ENST00000308559.7_Missense_Mutation_p.E90Q|MOCS1_ENST00000340692.5_Missense_Mutation_p.E90Q|MOCS1_ENST00000373195.3_Missense_Mutation_p.E3Q|MOCS1_ENST00000373175.4_Missense_Mutation_p.E61Q|MOCS1_ENST00000425303.2_Missense_Mutation_p.E90Q|MOCS1_ENST00000373188.2_Missense_Mutation_p.E90Q|MOCS1_ENST00000432280.2_Missense_Mutation_p.E61Q	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	90	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					ACCCCCTCCTCGGGCATGCAG	0.612													G	39893572	C	G	39893572	3	3	302	1	0	0	0	0	1	0	0	0	9766	893	31	4	921	4	MOCS1	6	39893572	Missense_Mutation	SNP	C	TCGA-CS-6669-01A-11D-1893-08		39893572	131221495	2	20715											
LRP1	4035	broad.mit.edu	37	chr12	57577587	57577587	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatctactgggtggacatgGgcctgagcacgatcagccgg	8	7	14	12	2	2	1	1	1	1	0	2	3	2	2	3	4	3	1	3	4	1	1			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr12:57577587G>T	ENST00000243077.3	+	36	6290	c.5824G>T	c.(5824-5826)Ggc>Tgc	p.G1942C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1942					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGGACATGGGCCTGAGCAC	0.577													T	57577587	G	T	57577587	3	4	302	1	0	0	0	0	1	0	0	0	9021	1232	43	4	5966	4	LRP1	12	57577587	Missense_Mutation	SNP	G	TCGA-CS-6669-01A-11D-1893-08		57577587	76274308	3	20716											
YY1	7528	broad.mit.edu	37	chr14	100743846	100743846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagacaggccctatgtgtGccccttcgatggttgtaata	8	11	12	10	2	0	1	0	0	0	1	1	3	0	1	3	3	1	2	3	3	3	5			TCGA-CS-6669-01A-11D-1893-08	TCGA-CS-6669-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	218a9531-9264-43bc-8535-858d4cb0919e	4bc99b08-8b67-443e-88a4-03edef39d433	g.chr14:100743846G>T	ENST00000262238.4	+	5	1414	c.1154G>T	c.(1153-1155)tGc>tTc	p.C385F		NM_003403.3	NP_003394.1	P25490	TYY1_HUMAN	YY1 transcription factor	385	Involved in masking transactivation domain.				cell differentiation|cellular response to UV|double-strand break repair via homologous recombination|negative regulation of transcription from RNA polymerase II promoter|response to UV-C|spermatogenesis	Ino80 complex|nuclear matrix|plasma membrane	four-way junction DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding	p.C385F(1)		cervix(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(1)|prostate(4)|skin(1)	11		Melanoma(154;0.152)				CCCTATGTGTGCCCCTTCGAT	0.463													T	100743846	G	T	100743846	3	4	302	1	0	0	0	0	1	0	0	0	17609	1319	46	4	1172	4	YY1	14	100743846	Missense_Mutation	SNP	G	TCGA-CS-6669-01A-11D-1893-08		100743846	6605694	4	20717											
DBT	1629	broad.mit.edu	37	chr1	100696303	100696303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caataccttttaaagcttccGtttctatgtctactaatggc	10	16	5	10	1	2	0	0	0	2	0	3	0	3	0	2	1	3	2	2	1	7	8			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:100696303G>A	ENST00000370132.4	-	4	432	c.419C>T	c.(418-420)aCg>aTg	p.T140M	DBT_ENST00000370131.3_Missense_Mutation_p.T140M	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TAAAGCTTCCGTTTCTATGTC	0.328													A	100696303	G	A	100696303	3	1	303	1	0	0	0	0	1	0	0	0	4292	1145	40	1	1061	1	DBT	1	100696303	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08		100696303	148554318	1	20718											
IGSF9	57549	broad.mit.edu	37	chr1	159900616	159900616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccacaggcactgccAaggacacccagtcatggtgc	10	4	10	17	0	1	0	1	0	0	0	1	1	1	1	4	3	3	1	4	3	1	0			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:159900616A>G	ENST00000368094.1	-	14	1876	c.1679T>C	c.(1678-1680)tTg>tCg	p.L560S	IGSF9_ENST00000361509.3_Missense_Mutation_p.L544S|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	560	Fibronectin type-III 1.					cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			AGGCACTGCCAAGGACACCCA	0.617													G	159900616	A	G	159900616	3	3	303	1	0	0	0	0	1	0	0	0	7663	131	5	3	1892	3	IGSF9	1	159900616	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	59204313	159900616	89350005	2	20719											
CDK18	5129	broad.mit.edu	37	chr1	205492349	205492349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtttctccctgtcagtgccCcgcactgagaccattgaaga	8	10	9	14	2	2	3	1	2	1	2	3	4	2	3	4	0	1	2	4	0	1	2			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:205492349C>T	ENST00000360066.2	+	2	355	c.54C>T	c.(52-54)ccC>ccT	p.P18P	CDK18_ENST00000429964.2_Silent_p.P18P|CDK18_ENST00000509056.1_Intron|CDK18_ENST00000506784.1_Silent_p.P18P	NM_002596.3|NM_212502.2|NM_212503.2	NP_002587.2|NP_997667.1|NP_997668.1	Q07002	CDK18_HUMAN	cyclin-dependent kinase 18	16							ATP binding|cyclin-dependent protein kinase activity|protein binding|signal transducer activity			breast(2)|endometrium(2)|large_intestine(2)|lung(10)|stomach(2)|urinary_tract(1)	19						TGTCAGTGCCCCGCACTGAGA	0.552													T	205492349	C	T	205492349	2	4	303	1	0	0	0	0	0	0	0	1	3164	610	22	2		2	CDK18	1	205492349	Silent	SNP	C	TCGA-CS-6670-01A-11D-1893-08	45591733	205492349	43758272	3	20720											
URB2	9816	broad.mit.edu	37	chr1	229773892	229773892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcagtcttttcaggcaGccttgcagtttttgactctg	7	16	9	9	0	4	2	2	2	2	0	4	2	4	2	1	1	2	3	1	1	0	5			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr1:229773892G>A	ENST00000258243.2	+	4	3668	c.3532G>A	c.(3532-3534)Gcc>Acc	p.A1178T		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1178						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTTTCAGGCAGCCTTGCAGTT	0.498													A	229773892	G	A	229773892	3	1	303	1	0	0	0	0	1	0	0	0	17127	971	34	2	3542	2	URB2	1	229773892	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	24281543	229773892	19476729	4	20721											
FOSL2	2355	broad.mit.edu	37	chr2	28627127	28627127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcacccctacagccccctgCcgggcctggcctctgtccct	3	7	9	22	2	1	0	0	0	1	0	2	0	2	0	8	2	3	1	8	2	1	1			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:28627127C>T	ENST00000264716.4	+	2	1119	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S	FOSL2_ENST00000545753.1_Missense_Mutation_p.P47S|FOSL2_ENST00000460736.1_3'UTR|FOSL2_ENST00000379619.1_Missense_Mutation_p.P61S	NM_005253.3	NP_005244.1	P15408	FOSL2_HUMAN	FOS-like antigen 2	86					cell death|regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(172;0.155)					CAGCCCCCTGCCGGGCCTGGC	0.647													T	28627127	C	T	28627127	3	4	303	1	0	0	0	0	1	0	0	0	6037	739	26	2	262	2	FOSL2	2	28627127	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		28627127	214572246	5	20722											
PTPN4	5775	broad.mit.edu	37	chr2	120718482	120718482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatgacttgggaacaaGgctcctctatggttgtaatg	10	11	13	7	0	1	2	0	1	1	1	2	3	2	3	1	4	1	4	1	4	4	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:120718482G>A	ENST00000263708.2	+	23	3004	c.2233G>A	c.(2233-2235)Ggc>Agc	p.G745S	PTPN4_ENST00000544261.1_Missense_Mutation_p.G378S	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	745	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity	p.G745S(1)		endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	TTGGGAACAAGGCTCCTCTAT	0.393													A	120718482	G	A	120718482	3	1	303	1	0	0	0	0	1	0	0	0	12878	1000	35	2	2319	2	PTPN4	2	120718482	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	92091355	120718482	122480891	6	20723											
MYO3B	140469	broad.mit.edu	37	chr2	171264279	171264279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagagacactctccctgccGatgtggttgtggtcctgaga	8	11	12	10	1	1	2	0	1	1	2	3	5	2	2	3	2	1	1	3	2	1	2			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:171264279G>A	ENST00000334231.6	+	22	2602	c.2602G>A	c.(2602-2604)Gat>Aat	p.D868N	MYO3B_ENST00000409044.3_Missense_Mutation_p.D859N|MYO3B_ENST00000408978.4_Missense_Mutation_p.D859N|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	859	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTCCCTGCCGATGTGGTTGT	0.463													A	171264279	G	A	171264279	3	1	303	1	0	0	0	0	1	0	0	0	10153	1058	37	1	2661	1	MYO3B	2	171264279	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	50545797	171264279	71935094	7	20724											
TTN	7273	broad.mit.edu	37	chr2	179589234	179589234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctacagtcaccgtcatCggtcctgccttctcaacaat	8	12	5	16	2	4	0	3	0	2	0	8	0	5	0	4	1	3	0	4	1	3	2			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:179589234C>T	ENST00000589042.1	-	72	21092	c.20868G>A	c.(20866-20868)ccG>ccA	p.P6956P	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P6639P|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.P5712P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6639	Ig-like 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCGTCATCGGTCCTGCCT	0.478													T	179589234	C	T	179589234	2	4	303	1	0	0	0	0	0	0	0	1	16837	871	31	1		1	TTN	2	179589234	Silent	SNP	C	TCGA-CS-6670-01A-11D-1893-08	8324955	179589234	63610139	8	20725											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	303	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08	29523878	209113112	34086261	9	20726											
CXCR2	3579	broad.mit.edu	37	chr2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttttctactagatgccGccccatgtgaaccagaatcc	9	10	6	16	1	1	3	0	1	1	2	2	3	2	3	7	0	3	0	7	0	4	4	rs75759064	by1000genomes	TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:218999633G>A	ENST00000318507.2	+	3	536	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													A	218999633	G	A	218999633	3	1	303	1	0	0	0	0	1	0	0	0	4124	1087	38	1	111	1	CXCR2	2	218999633	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	9886521	218999633	24199740	10	20727											
SP110	3431	broad.mit.edu	37	chr2	231036817	231036817	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatctgcctctccagggTcttagatacatgatggcact	8	12	9	12	0	3	2	0	1	3	1	4	2	3	2	2	2	3	2	2	2	2	2			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:231036817T>C	ENST00000258381.6	-	16	1857	c.1780A>G	c.(1780-1782)Acc>Gcc	p.T594A	AC009950.2_ENST00000594622.1_RNA|SP110_ENST00000358662.4_Missense_Mutation_p.T594A|AC009950.2_ENST00000609120.1_RNA|AC009950.2_ENST00000595586.2_RNA	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	594	Bromo.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		CTCTCCAGGGTCTTAGATACA	0.522													C	231036817	T	C	231036817	3	2	303	1	0	0	0	0	1	0	0	0	15055	1667	58	3	377	3	SP110	2	231036817	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	12037184	231036817	12162556	11	20728											
UGT1A7	54577	broad.mit.edu	37	chr2	234591431	234591431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcagggaaagccagTgcctatggtaagttatctcc	10	11	10	10	0	3	0	2	0	1	0	4	1	3	1	3	2	2	2	3	2	4	3			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr2:234591431T>C	ENST00000373426.3	+	1	848	c.848T>C	c.(847-849)gTg>gCg	p.V283A	UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGAAAGCCAGTGCCTATGGTA	0.368													C	234591431	T	C	234591431	3	2	303	1	0	0	0	0	1	0	0	0	17052	1696	59	3	850	3	UGT1A7	2	234591431	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	3554614	234591431	8607942	12	20729											
ULK4	54986	broad.mit.edu	37	chr3	41795900	41795900	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacggttataaatcaaaatAtatagaagaaccaggaaggc	19	8	8	6	1	2	2	2	0	0	2	2	3	2	3	1	3	1	1	1	3	11	5			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:41795900A>G	ENST00000301831.4	-	22	2736	c.2274T>C	c.(2272-2274)taT>taC	p.Y758Y		NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	758							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AAATCAAAATATATAGAAGAA	0.383													G	41795900	A	G	41795900	2	3	303	1	0	0	0	0	0	0	0	1	17080	456	16	3		3	ULK4	3	41795900	Silent	SNP	A	TCGA-CS-6670-01A-11D-1893-08		41795900	156226530	13	20730											
OR5H14	403273	broad.mit.edu	37	chr3	97868884	97868884	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgttcttatatcttacAtatttgtcctctatacaatc	10	18	4	9	0	3	0	0	0	3	0	5	1	4	1	1	1	2	1	1	1	7	8			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:97868884A>G	ENST00000437310.1	+	1	715	c.655A>G	c.(655-657)Ata>Gta	p.I219V		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATATCTTACATATTTGTCCT	0.318													G	97868884	A	G	97868884	3	3	303	1	0	0	0	0	1	0	0	0	11236	217	8	3	657	3	OR5H14	3	97868884	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	56072984	97868884	100153546	14	20731											
OR5K4	403278	broad.mit.edu	37	chr3	98073605	98073605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttaaaaaaattatgaGgaattataacattcttaaac	18	15	4	4	0	2	1	0	1	2	0	2	2	2	2	0	1	2	1	0	1	10	7			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:98073605G>A	ENST00000354924.2	+	1	908	c.908G>A	c.(907-909)aGg>aAg	p.R303K	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						AAAATTATGAGGAATTATAAC	0.249													A	98073605	G	A	98073605	3	1	303	1	0	0	0	0	1	0	0	0	11245	1000	35	2	910	2	OR5K4	3	98073605	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	204721	98073605	99948825	15	20732											
WDR49	151790	broad.mit.edu	37	chr3	167246909	167246909	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcgattcatcttatcagtAgacataataatcgatccaac	15	13	4	9	2	3	1	2	0	1	1	6	3	4	1	1	0	1	1	1	0	6	6			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:167246909A>G	ENST00000308378.3	-	10	1586	c.1281T>C	c.(1279-1281)tcT>tcC	p.S427S	WDR49_ENST00000476376.1_Silent_p.S252S|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000453925.2_Silent_p.S491S	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	427										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCTTATCAGTAGACATAATAA	0.353													G	167246909	A	G	167246909	2	3	303	1	0	0	0	0	0	0	0	1	17404	407	15	3		3	WDR49	3	167246909	Silent	SNP	A	TCGA-CS-6670-01A-11D-1893-08	69173304	167246909	30775521	16	20733											
EHHADH	1962	broad.mit.edu	37	chr3	184910182	184910182	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgtgggcaacccaactgtGgaagcatagaacatgggccc	12	6	12	11	0	0	1	0	0	0	1	0	2	0	2	2	3	4	2	2	3	5	1			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr3:184910182G>A	ENST00000231887.3	-	7	2079	c.2004C>T	c.(2002-2004)tcC>tcT	p.S668S	EHHADH_ENST00000456310.1_Silent_p.S572S	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	668						peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	ACCCAACTGTGGAAGCATAGA	0.473													A	184910182	G	A	184910182	2	1	303	1	0	0	0	0	0	0	0	1	5021	1335	47	2		2	EHHADH	3	184910182	Silent	SNP	G	TCGA-CS-6670-01A-11D-1893-08	17663273	184910182	13112248	17	20734											
PTPN13	5783	broad.mit.edu	37	chr4	87643480	87643480	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcccttagacagtctcggTtgagcctatatccaggagac	9	10	11	11	1	1	3	0	1	1	2	3	4	2	3	3	3	1	1	3	3	3	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr4:87643480T>C	ENST00000436978.1	+	10	1981	c.1501T>C	c.(1501-1503)Ttg>Ctg	p.L501L	PTPN13_ENST00000411767.2_Silent_p.L501L|PTPN13_ENST00000316707.6_Silent_p.L501L|PTPN13_ENST00000511467.1_Silent_p.L501L|PTPN13_ENST00000427191.2_Silent_p.L501L	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	501						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACAGTCTCGGTTGAGCCTATA	0.443													C	87643480	T	C	87643480	2	2	303	1	0	0	0	0	0	0	0	1	12868	1722	60	3		3	PTPN13	4	87643480	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08		87643480	103510796	18	20735											
NPY1R	4886	broad.mit.edu	37	chr4	164246627	164246627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaactgcaagtctctcTggaagtttttgttcaggaac	12	12	10	7	0	3	2	1	0	2	2	4	4	3	4	0	2	3	3	0	2	5	3			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr4:164246627T>C	ENST00000296533.2	-	3	1514	c.983A>G	c.(982-984)cAg>cGg	p.Q328R	NPY1R_ENST00000509586.1_Missense_Mutation_p.Q85R	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	328					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAGTCTCTCTGGAAGTTTTT	0.428													C	164246627	T	C	164246627	3	2	303	1	0	0	0	0	1	0	0	0	10684	1580	55	3	175	3	NPY1R	4	164246627	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	76603147	164246627	26907649	19	20736											
KIAA0947	23379	broad.mit.edu	37	chr5	5466481	5466481	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttgcttcactctattctctCagaactaaaaattcagaaga	14	13	4	10	0	5	3	3	0	2	3	6	3	5	3	0	0	2	1	0	0	6	6			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:5466481C>G	ENST00000296564.7	+	14	6149	c.5927C>G	c.(5926-5928)tCa>tGa	p.S1976*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1976										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						TCTATTCTCTCAGAACTAAAA	0.388													G	5466481	C	G	5466481	4	3	303	1	0	0	0	0	0	1	0	0	8260	838	29	4	5981	4	KIAA0947	5	5466481	Nonsense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		5466481	175448779	20	20737											
SPATA9	83890	broad.mit.edu	37	chr5	94994605	94994605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccttcttcagcacagcatTaacacagactgcctatacaa	14	10	4	13	0	2	1	1	0	1	1	2	1	2	1	2	0	6	2	2	0	5	6			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:94994605T>C	ENST00000274432.8	-	5	628	c.487A>G	c.(487-489)Aat>Gat	p.N163D	SPATA9_ENST00000477047.2_5'UTR|RFESD_ENST00000508206.1_Intron	NM_031952.3	NP_114158.2	Q9BWV2	SPAT9_HUMAN	spermatogenesis associated 9	163					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				large_intestine(3)|lung(4)	7		all_cancers(142;1.28e-06)|all_epithelial(76;1.55e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.91e-16)		AGCACAGCATTAACACAGACT	0.348													C	94994605	T	C	94994605	3	2	303	1	0	0	0	0	1	0	0	0	15112	1754	61	3	281	3	SPATA9	5	94994605	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	89528124	94994605	85920655	21	20738											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720793	140720793	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttcgggctttcctgcagaCctattcccacgaggtctccc	5	11	10	15	2	1	1	0	0	1	1	5	2	3	1	4	3	1	3	4	3	1	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:140720793C>G	ENST00000394576.2	+	1	2255	c.2255C>G	c.(2254-2256)aCc>aGc	p.T752S	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGCAGACCTATTCCCAC	0.612													G	140720793	C	G	140720793	3	3	303	1	0	0	0	0	1	0	0	0	11630	507	18	4	2257	4	PCDHGA2	5	140720793	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08	45726188	140720793	40194467	22	20739											
FBXO38	81545	broad.mit.edu	37	chr5	147803622	147803622	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggtggccgagagtggaaaTaatactccagctcacagcca	12	7	12	10	1	1	1	1	0	0	1	2	3	2	2	3	3	3	1	3	3	3	2			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr5:147803622T>C	ENST00000340253.5	+	13	1848	c.1680T>C	c.(1678-1680)aaT>aaC	p.N560N	FBXO38_ENST00000394370.3_Silent_p.N560N|FBXO38_ENST00000296701.6_Silent_p.N560N|FBXO38_ENST00000513826.1_Silent_p.N560N			Q6PIJ6	FBX38_HUMAN	F-box protein 38	560						cytoplasm|nucleus			ATG4C/FBXO38(2)	NS(1)|breast(2)|endometrium(7)|kidney(5)|large_intestine(9)|lung(15)|ovary(5)|prostate(2)|skin(2)|stomach(2)|urinary_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTGGAAATAATACTCCAG	0.413													C	147803622	T	C	147803622	2	2	303	1	0	0	0	0	0	0	0	1	5795	1403	49	3		3	FBXO38	5	147803622	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08	7082829	147803622	33111638	23	20740											
IGF2R	3482	broad.mit.edu	37	chr6	160497010	160497010	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgctcatcgcgtttcactgTaagagaggtgtgagcatggt	8	12	13	8	3	2	2	2	1	0	1	4	3	2	2	0	2	1	4	0	2	1	2			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr6:160497010T>C	ENST00000356956.1	+	36	5446	c.5298T>C	c.(5296-5298)tgT>tgC	p.C1766C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1766					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGTTTCACTGTAAGAGAGGTG	0.468													C	160497010	T	C	160497010	2	2	303	1	0	0	0	0	0	0	0	1	7634	1644	57	3		3	IGF2R	6	160497010	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08		160497010	10618057	24	20741											
ZPBP	11055	broad.mit.edu	37	chr7	50023024	50023024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaaaccatttggagagtaCcttcaatatagtatatttga	14	14	6	7	0	1	2	1	1	0	1	2	3	2	2	3	1	2	2	3	1	7	8			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:50023024C>T	ENST00000046087.2	-	7	944	c.875G>A	c.(874-876)gGt>gAt	p.G292D	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291D|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TTGGAGAGTACCTTCAATATA	0.353													T	50023024	C	T	50023024	3	4	303	1	0	0	0	0	1	0	0	0	18318	507	18	2	188	2	ZPBP	7	50023024	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		50023024	109115639	25	20742											
COBL	23242	broad.mit.edu	37	chr7	51096959	51096959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttagataaggccacacGgattccttttccgacgtcat	10	12	9	10	3	1	1	1	0	0	1	3	4	3	2	3	2	0	1	3	2	2	5			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:51096959G>A	ENST00000395542.2	-	12	2264	c.2080C>T	c.(2080-2082)Cgt>Tgt	p.R694C	COBL_ENST00000265136.7_Missense_Mutation_p.R612C			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	612								p.R612C(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					AAGGCCACACGGATTCCTTTT	0.527													A	51096959	G	A	51096959	3	1	303	1	0	0	0	0	1	0	0	0	3684	1116	39	1	1967	1	COBL	7	51096959	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	1073935	51096959	108041704	26	20743											
MAGI2	9863	broad.mit.edu	37	chr7	77762326	77762326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaggggactctgctgcGccatgggactctgcttctct	4	11	13	13	1	3	0	0	0	3	0	4	2	3	2	2	3	4	2	2	3	0	1	rs148526889		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:77762326G>A	ENST00000354212.4	-	18	3336	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	MAGI2_ENST00000419488.1_Missense_Mutation_p.A1014V|MAGI2_ENST00000522391.1_Missense_Mutation_p.A1028V	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	1028	Pro-rich.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACTCTGCTGCGCCATGGGACT	0.622													A	77762326	G	A	77762326	3	1	303	1	0	0	0	0	1	0	0	0	9266	1087	38	1	1304	1	MAGI2	7	77762326	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	26665367	77762326	81376337	27	20744											
GPR85	54329	broad.mit.edu	37	chr7	112723671	112723671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagatgctccctcatataAcacagtaaggttcccttggt	11	12	7	11	0	1	1	1	0	0	1	3	1	3	1	2	2	3	3	2	2	4	6			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:112723671A>G	ENST00000297146.3	-	3	1709	c.1106T>C	c.(1105-1107)gTt>gCt	p.V369A	GPR85_ENST00000449591.1_Missense_Mutation_p.V369A|GPR85_ENST00000501255.2_Missense_Mutation_p.V369A|GPR85_ENST00000424100.1_Missense_Mutation_p.V369A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						CCCTCATATAACACAGTAAGG	0.423													G	112723671	A	G	112723671	3	3	303	1	0	0	0	0	1	0	0	0	6769	43	2	3	10	3	GPR85	7	112723671	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	34961345	112723671	46414992	28	20745											
PTPRZ1	5803	broad.mit.edu	37	chr7	121659248	121659249	+	Frame_Shift_Ins	INS	-	-	A																															aatccgagaagaaggcagttINSataccccttgtgatcgtgtc																										TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:121659248_121659249insA	ENST00000393386.2	+	13	5325_5326	c.4914_4915insA	c.(4915-4917)atafs	p.I1639fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Ins_p.I779fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1639					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAAGGCAGTTATACCCCTTGT	0.426													A	121659249	-	A	121659248	7	5	303	1	0	1	1	0	0	0	0	0	12902	1741	61	0	4964	0	PTPRZ1	7	121659248	Frame_Shift_Ins	INS	-	TCGA-CS-6670-01A-11D-1893-08	8935577	121659248	37479415	29	20746											
SLC4A2	6522	broad.mit.edu	37	chr7	150767364	150767364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatggtcagggggctgaGagtgacccccacgtcaccga	9	5	13	14	2	2	2	2	2	0	1	2	4	2	2	4	3	0	1	4	3	0	0			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr7:150767364G>T	ENST00000485713.1	+	10	2420	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	SLC4A2_ENST00000392826.2_Missense_Mutation_p.E451D|SLC4A2_ENST00000461735.1_Missense_Mutation_p.E446D|SLC4A2_ENST00000310317.5_Missense_Mutation_p.E378D|SLC4A2_ENST00000413384.2_Missense_Mutation_p.E460D	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	460				LLGHHHGQGAESDPHVTEPLMGGVPE -> CWGITMVRGLR VTPTSPSLSWEVFLR (in Ref. 6; CAA27556).	bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGGGCTGAGAGTGACCCCC	0.652													T	150767364	G	T	150767364	3	4	303	1	0	0	0	0	1	0	0	0	14748	933	33	4	1414	4	SLC4A2	7	150767364	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	29108116	150767364	8371299	30	20747											
DLGAP2	9228	broad.mit.edu	37	chr8	1626399	1626399	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacggacgttttaaacgtTctaacagcgtcacggccgcc	10	8	10	13	6	2	0	1	0	1	0	2	2	2	1	2	2	3	2	2	2	3	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr8:1626399T>A	ENST00000421627.2	+	9	2202	c.2068T>A	c.(2068-2070)Tct>Act	p.S690T		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	769					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		TTTTAAACGTTCTAACAGCGT	0.552													A	1626399	T	A	1626399	3	1	303	1	0	0	0	0	1	0	0	0	4599	1783	62	5	2098	5	DLGAP2	8	1626399	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08		1626399	144737623	31	20748											
CTNNA3	29119	broad.mit.edu	37	chr10	69366623	69366623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagtactcactttctttgCgaacttcctcaagtgaagcc	9	13	8	11	1	3	1	2	1	1	0	4	3	4	2	2	1	4	1	2	1	4	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr10:69366623C>T	ENST00000433211.2	-	3	458	c.284G>A	c.(283-285)cGc>cAc	p.R95H	CTNNA3_ENST00000373744.4_Missense_Mutation_p.R95H|CTNNA3_ENST00000545309.1_Missense_Mutation_p.R95H	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACTTTCTTTGCGAACTTCCTC	0.423													T	69366623	C	T	69366623	3	4	303	1	0	0	0	0	1	0	0	0	4047	768	27	1	2467	1	CTNNA3	10	69366623	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		69366623	66168124	32	20749											
ATG2A	23130	broad.mit.edu	37	chr11	64674138	64674138	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccccaggcctcacaccTcggtggtagagtgttgcctt	5	10	11	15	1	1	1	1	0	0	1	2	1	1	1	5	3	2	2	5	3	1	3			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:64674138T>C	ENST00000421419.2	-	20	3096	c.2982A>G	c.(2980-2982)cgA>cgG	p.R994R	ATG2A_ENST00000377264.3_Splice_Site_p.R994R			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	994							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						GCCTCACACCTCGGTGGTAGA	0.617													C	64674138	T	C	64674138	5	2	303	1	0	0	0	0	0	0	1	0	1098	1565	54	3	2922	3	ATG2A	11	64674138	Splice_Site	SNP	T	TCGA-CS-6670-01A-11D-1893-08		64674138	70332378	33	20750											
DYNC2H1	79659	broad.mit.edu	37	chr11	103056994	103056994	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattgggcacgagaatcTcctccagactttcacaaacc	11	11	6	13	1	3	2	2	0	1	2	5	3	4	2	3	1	1	1	3	1	2	3			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:103056994T>C	ENST00000375735.2	+	42	6801	c.6657T>C	c.(6655-6657)tcT>tcC	p.S2219S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.S2219S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2219					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CACGAGAATCTCCTCCAGACT	0.378													C	103056994	T	C	103056994	2	2	303	1	0	0	0	0	0	0	0	1	4885	1538	54	3		3	DYNC2H1	11	103056994	Silent	SNP	T	TCGA-CS-6670-01A-11D-1893-08	38382856	103056994	31949522	34	20751											
SCN2B	6327	broad.mit.edu	37	chr11	118037639	118037639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggttgccttcaccgtccGtcttgccctcctcctcggtc	1	12	9	19	4	2	0	1	0	1	0	7	0	5	0	7	2	2	1	7	2	0	3	rs140034265		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr11:118037639G>A	ENST00000278947.5	-	4	852	c.611C>T	c.(610-612)aCg>aTg	p.T204M		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	204					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		TTCACCGTCCGTCTTGCCCTC	0.602													A	118037639	G	A	118037639	3	1	303	1	0	0	0	0	1	0	0	0	14010	1145	40	1	40	1	SCN2B	11	118037639	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	14980645	118037639	16968877	35	20752											
KRT5	3852	broad.mit.edu	37	chr12	52913647	52913647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaggagactctggttgAcagtgacctcttggatacct	9	11	12	9	0	3	3	1	2	2	1	3	6	3	4	2	3	1	1	2	3	1	3			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr12:52913647A>G	ENST00000252242.4	-	1	824	c.434T>C	c.(433-435)gTc>gCc	p.V145A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	145	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		ACTCTGGTTGACAGTGACCTC	0.602													G	52913647	A	G	52913647	3	3	303	1	0	0	0	0	1	0	0	0	8537	275	10	3	1374	3	KRT5	12	52913647	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08		52913647	80938248	36	20753											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518209	85518209	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagacagcaaggcaagcagtAttcccaccataagaatccca	17	5	7	12	0	0	2	0	0	0	2	2	2	2	2	3	1	2	4	3	1	6	3			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr12:85518209A>G	ENST00000393217.2	+	17	3980	c.3919A>G	c.(3919-3921)Att>Gtt	p.I1307V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1307										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		GGCAAGCAGTATTCCCACCAT	0.373													G	85518209	A	G	85518209	3	3	303	1	0	0	0	0	1	0	0	0	9099	449	16	3	3981	3	LRRIQ1	12	85518209	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08	32604562	85518209	48333686	37	20754											
LATS2	26524	broad.mit.edu	37	chr13	21549263	21549263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggctttcttcatctaCggggtcgaaattcgaggtgt	8	12	12	9	3	3	0	1	0	2	0	5	2	3	0	1	4	1	1	1	4	3	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr13:21549263C>T	ENST00000382592.4	-	8	3418	c.3013G>A	c.(3013-3015)Gta>Ata	p.V1005I	LATS2_ENST00000542899.1_Missense_Mutation_p.V1005I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1005	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TCTTCATCTACGGGGTCGAAA	0.557													T	21549263	C	T	21549263	3	4	303	1	0	0	0	0	1	0	0	0	8706	536	19	1	257	1	LATS2	13	21549263	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		21549263	93620615	38	20755											
SHC4	399694	broad.mit.edu	37	chr15	49148220	49148220	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgaactttgatccgcAtatctgaaacaccacctact	11	12	6	12	1	1	3	0	3	1	0	2	3	2	3	3	1	3	2	3	1	4	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:49148220A>C	ENST00000332408.4	-	8	1600	c.1172T>G	c.(1171-1173)aTg>aGg	p.M391R	SHC4_ENST00000537958.1_Missense_Mutation_p.M105R|SHC4_ENST00000396535.3_Missense_Mutation_p.M148R	NM_203349.3	NP_976224.3	Q6S5L8	SHC4_HUMAN	SHC (Src homology 2 domain containing) family, member 4	391	CH1.				intracellular signal transduction	cell junction|postsynaptic membrane				breast(1)|endometrium(2)|large_intestine(8)|lung(11)|ovary(3)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	29		all_lung(180;0.00466)		all cancers(107;9.4e-08)|GBM - Glioblastoma multiforme(94;5.94e-07)		TTTGATCCGCATATCTGAAAC	0.428													C	49148220	A	C	49148220	3	2	303	1	0	0	0	0	1	0	0	0	14367	217	8	5	740	5	SHC4	15	49148220	Missense_Mutation	SNP	A	TCGA-CS-6670-01A-11D-1893-08		49148220	53383172	39	20756											
TLE3	7090	broad.mit.edu	37	chr15	70366872	70366872	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agattggggagtccacgtacCccgatgatggcgttcagctc	8	9	13	11	3	1	2	1	1	0	1	3	4	2	3	3	3	2	3	3	3	1	3			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr15:70366872C>T	ENST00000558939.1	-	6	1749	c.372G>A	c.(370-372)ggG>ggA	p.G124G	TLE3_ENST00000442299.2_Splice_Site_p.G124G|TLE3_ENST00000440567.3_Splice_Site_p.G117G|TLE3_ENST00000558379.1_Splice_Site_p.G124G|TLE3_ENST00000560589.1_Splice_Site_p.G68G|TLE3_ENST00000317509.8_Splice_Site_p.G124G|TLE3_ENST00000558201.1_Splice_Site_p.G130G|TLE3_ENST00000451782.2_Splice_Site_p.G124G|TLE3_ENST00000559048.1_Splice_Site_p.G130G|TLE3_ENST00000560939.1_Splice_Site_p.G130G|TLE3_ENST00000539550.1_Silent_p.G58G|TLE3_ENST00000557907.1_Splice_Site_p.G124G|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559929.1_Silent_p.G124G|TLE3_ENST00000557997.1_Splice_Site_p.G124G	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	124	Gln-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GTCCACGTACCCCGATGATGG	0.557													T	70366872	C	T	70366872	5	4	303	1	0	0	0	0	0	0	1	0	16040	637	22	2	2006	2	TLE3	15	70366872	Splice_Site	SNP	C	TCGA-CS-6670-01A-11D-1893-08	21218652	70366872	32164520	40	20757											
LDHD	197257	broad.mit.edu	37	chr16	75149130	75149130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgccaccctcaagcccggtgCcggtgccgaatgggatgatg	7	6	14	14	4	1	1	1	1	0	0	1	3	1	2	5	3	3	0	5	3	2	0			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr16:75149130C>T	ENST00000300051.4	-	3	339	c.293G>A	c.(292-294)gGc>gAc	p.G98D	LDHD_ENST00000450168.2_Missense_Mutation_p.G98D	NM_153486.3	NP_705690.2	Q86WU2	LDHD_HUMAN	lactate dehydrogenase D	98	FAD-binding PCMH-type.						D-lactate dehydrogenase (cytochrome) activity|flavin adenine dinucleotide binding|protein binding			endometrium(1)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	16						AAGCCCGGTGCCGGTGCCGAA	0.672													T	75149130	C	T	75149130	3	4	303	1	0	0	0	0	1	0	0	0	8762	739	26	2	1266	2	LDHD	16	75149130	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		75149130	15205623	41	20758											
C17orf53	78995	broad.mit.edu	37	chr17	42231994	42231994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcaagtccctgactcggaGcacaatggacgccagtgtgg	10	7	13	11	2	1	1	1	1	0	0	3	4	2	3	2	3	1	1	2	3	2	0			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr17:42231994G>A	ENST00000319977.4	+	6	1760	c.1523G>A	c.(1522-1524)aGc>aAc	p.S508N	C17orf53_ENST00000245382.6_Missense_Mutation_p.S432N|C17orf53_ENST00000585683.1_Missense_Mutation_p.S507N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	508										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTGACTCGGAGCACAATGGAC	0.552													A	42231994	G	A	42231994	3	1	303	1	0	0	0	0	1	0	0	0	1878	971	34	2	1545	2	C17orf53	17	42231994	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08		42231994	38963216	42	20759											
MATK	4145	broad.mit.edu	37	chr19	3783831	3783831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaccatgtccatgaggTtgcagaagaacacggcctca	11	7	9	14	1	1	3	1	1	0	2	3	3	3	3	5	2	2	2	5	2	2	1			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:3783831T>C	ENST00000310132.6	-	6	961	c.563A>G	c.(562-564)aAc>aGc	p.N188S	MATK_ENST00000585778.1_Missense_Mutation_p.N188S|MATK_ENST00000395045.2_Missense_Mutation_p.N189S|MATK_ENST00000395040.2_Missense_Mutation_p.N147S	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	188	SH2.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCCATGAGGTTGCAGAAGAA	0.637													C	3783831	T	C	3783831	3	2	303	1	0	0	0	0	1	0	0	0	9407	1725	60	3	996	3	MATK	19	3783831	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08		3783831	55345152	43	20760											
ZNF799	90576	broad.mit.edu	37	chr19	12501372	12501372	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggttctctccagtgtgagTttttttccagtgagtctttt	4	19	10	8	1	2	2	0	2	2	0	5	2	4	2	2	1	0	2	2	1	0	6			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:12501372T>C	ENST00000419318.1	-	4	2493	c.1744A>G	c.(1744-1746)Act>Gct	p.T582A	ZNF799_ENST00000430385.3_Missense_Mutation_p.T614A|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	614					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCAGTGTGAGTTTTTTTCCAG	0.408													C	12501372	T	C	12501372	3	2	303	1	0	0	0	0	1	0	0	0	18265	1725	60	3	95	3	ZNF799	19	12501372	Missense_Mutation	SNP	T	TCGA-CS-6670-01A-11D-1893-08	8717541	12501372	46627611	44	20761											
CIC	23152	broad.mit.edu	37	chr19	42791394	42791394	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgaccatgatgatgcgTgagttccctgaggcctggga	9	9	15	8	1	0	6	0	5	0	1	1	7	1	7	3	2	1	1	3	2	0	1			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:42791394T>G	ENST00000572681.2	+	4	3247		c.e4+2		CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGATGATGCGTGAGTTCCCTG	0.652			"Mis, F, S"		oligodendroglioma								G	42791394	T	G	42791394	5	3	303	1	0	0	0	0	0	0	1	0	3454	1710	59	5	464	5	CIC	19	42791394	Splice_Site	SNP	T	TCGA-CS-6670-01A-11D-1893-08	30290022	42791394	16337589	45	20762											
PGLYRP1	8993	broad.mit.edu	37	chr19	46526067	46526067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctgctgctggcacgaGgcgggggtgttgcagctgct	3	8	19	11	3	0	0	0	0	0	0	0	1	0	0	1	5	5	7	1	5	0	1			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr19:46526067G>A	ENST00000008938.4	-	1	256	c.213C>T	c.(211-213)gcC>gcT	p.A71A		NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	71					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		GCTGGCACGAGGCGGGGGTGT	0.652													A	46526067	G	A	46526067	2	1	303	1	0	0	0	0	0	0	0	1	11870	987	35	2		2	PGLYRP1	19	46526067	Silent	SNP	G	TCGA-CS-6670-01A-11D-1893-08	3734673	46526067	12602916	46	20763											
ATP9A	10079	broad.mit.edu	37	chr20	50256040	50256040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccgtccactgtaccagggCcacctaaacataacacaggg	12	7	8	14	1	0	0	0	0	0	0	2	0	2	0	5	2	3	1	5	2	4	4			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr20:50256040C>T	ENST00000338821.5	-	15	1774	c.1510G>A	c.(1510-1512)Gcc>Acc	p.A504T	ATP9A_ENST00000311637.5_Missense_Mutation_p.A368T|ATP9A_ENST00000402822.1_Missense_Mutation_p.A383T	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	504					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TGTACCAGGGCCACCTAAACA	0.567											OREG0026043	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50256040	C	T	50256040	3	4	303	1	0	0	0	0	1	0	0	0	1203	739	26	2	1689	2	ATP9A	20	50256040	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		50256040	12769480	47	20764											
CECR2	27443	broad.mit.edu	37	chr22	18020229	18020229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaagcgggagaaaagaCggagtcgggctgggcgaagt	14	4	18	5	4	0	3	0	1	0	2	1	6	0	4	0	4	1	1	0	4	5	0			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr22:18020229C>T	ENST00000400573.5	+	14	1565	c.1558C>T	c.(1558-1560)Cgg>Tgg	p.R520W	CECR2_ENST00000400585.2_Missense_Mutation_p.R379W|CECR2_ENST00000262608.8_Missense_Mutation_p.R521W			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2		Bromo.				chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		GGAGAAAAGACGGAGTCGGGC	0.527													T	18020229	C	T	18020229	3	4	303	1	0	0	0	0	1	0	0	0	3236	527	19	1	1610	1	CECR2	22	18020229	Missense_Mutation	SNP	C	TCGA-CS-6670-01A-11D-1893-08		18020229	33284337	48	20765											
ZBED4	9889	broad.mit.edu	37	chr22	50280050	50280050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccattaacgagatgtccGtcgagtgtaacttccgagag	10	9	13	9	4	0	2	0	0	0	2	3	5	2	2	3	1	2	1	3	1	2	3	rs55681922		TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chr22:50280050G>A	ENST00000216268.5	+	2	3217	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CGAGATGTCCGTCGAGTGTAA	0.582													A	50280050	G	A	50280050	3	1	303	1	0	0	0	0	1	0	0	0	17621	1145	40	1	2742	1	ZBED4	22	50280050	Missense_Mutation	SNP	G	TCGA-CS-6670-01A-11D-1893-08	32259821	50280050	1024516	49	20766											
CUL4B	8450	broad.mit.edu	37	chrX	119691896	119691896	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggtaatttaggcttatcTagatgatatgtaaaaggttg	12	16	10	3	0	2	2	0	1	2	1	2	2	2	2	0	3	0	4	0	3	7	8			TCGA-CS-6670-01A-11D-1893-08	TCGA-CS-6670-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44e94c3e-4910-440b-b21e-c0fcb9d9de16	b1a2bea4-c820-4301-ad17-0605363483bd	g.chrX:119691896T>C	ENST00000371322.5	-	2	618		c.e2-2		CUL4B_ENST00000404115.3_Splice_Site|CUL4B_ENST00000336592.6_Splice_Site	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B						cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TAGGCTTATCTAGATGATATG	0.313													C	119691896	T	C	119691896	5	2	303	1	0	0	0	0	0	0	1	0	4091	1536	53	3	2208	3	CUL4B	23	119691896	Splice_Site	SNP	T	TCGA-CS-6670-01A-11D-1893-08		119691896	35578664	50	20767											
EIF4G3	8672	broad.mit.edu	37	chr1	21155713	21155713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagcaaggtacaaccaaaTatggggaatatcaatggcca	16	8	9	8	0	2	0	2	0	0	0	2	1	2	1	2	4	3	2	2	4	8	4			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:21155713T>C	ENST00000602326.1	-	29	4547	c.3964A>G	c.(3964-3966)Att>Gtt	p.I1322V	EIF4G3_ENST00000536266.1_Missense_Mutation_p.I920V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1322V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1316V|EIF4G3_ENST00000264211.8_Missense_Mutation_p.I1316V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1036V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I806V	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1316	MI.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TACAACCAAATATGGGGAATA	0.378													C	21155713	T	C	21155713	3	2	304	1	0	0	0	0	1	0	0	0	5079	1406	49	3	839	3	EIF4G3	1	21155713	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08		21155713	228094908	1	20768											
GRHL3	57822	broad.mit.edu	37	chr1	24663012	24663012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagacggacctcactcccCttgaaagccccacacacctc	11	6	6	18	1	1	2	1	2	0	1	3	4	2	3	6	1	1	0	6	1	1	1			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:24663012C>A	ENST00000361548.4	+	4	537	c.307C>A	c.(307-309)Ctt>Att	p.L103I	GRHL3_ENST00000342072.4_Missense_Mutation_p.L10I|GRHL3_ENST00000236255.4_Missense_Mutation_p.L108I|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000356046.2_Missense_Mutation_p.L57I|GRHL3_ENST00000350501.5_Missense_Mutation_p.L103I	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	103					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCTCACTCCCCTTGAAAGCCC	0.507													A	24663012	C	A	24663012	3	1	304	1	0	0	0	0	1	0	0	0	6820	681	24	4	357	4	GRHL3	1	24663012	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	3507299	24663012	224587609	2	20769											
DOCK7	85440	broad.mit.edu	37	chr1	63090967	63090967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcactgtgagagtagctggtCgaaagctcgtcaagttacaa	12	10	11	8	2	2	1	2	1	0	1	4	3	2	1	0	1	3	4	0	1	5	2			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr1:63090967C>T	ENST00000251157.5	-	12	1421	c.1388G>A	c.(1387-1389)cGa>cAa	p.R463Q	DOCK7_ENST00000404627.2_Missense_Mutation_p.R463Q|DOCK7_ENST00000340370.5_Missense_Mutation_p.R463Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	463					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGTAGCTGGTCGAAAGCTCGT	0.388													T	63090967	C	T	63090967	3	4	304	1	0	0	0	0	1	0	0	0	4731	884	31	1	5093	1	DOCK7	1	63090967	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	38427955	63090967	186159654	3	20770											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	304	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		209113112	34086261	4	20771											
LEF1	51176	broad.mit.edu	37	chr4	109000758	109000758	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggaggaccgggaatcatAtgatgggaaaacctgaaagg	15	5	14	7	1	1	2	1	2	0	0	1	6	1	6	3	5	1	0	3	5	5	1			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr4:109000758A>G	ENST00000379951.2	-	6	1839	c.651T>C	c.(649-651)caT>caC	p.H217H	LEF1_ENST00000438313.2_Silent_p.H217H|LEF1_ENST00000265165.1_Silent_p.H245H|LEF1_ENST00000510624.1_Silent_p.H149H	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	245	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CGGGAATCATATGATGGGAAA	0.468													G	109000758	A	G	109000758	2	3	304	1	0	0	0	0	0	0	0	1	8773	446	16	3		3	LEF1	4	109000758	Silent	SNP	A	TCGA-DB-5270-01A-02D-1468-08		109000758	82153518	5	20772											
RASA1	5921	broad.mit.edu	37	chr5	86659176	86659176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaaacaggcaaaggaaaaCgttggaaaaatttatatttt	18	13	7	3	1	0	0	0	0	0	0	0	2	0	2	0	3	2	2	0	3	9	8			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr5:86659176C>T	ENST00000456692.2	+	11	1049	c.934C>T	c.(934-936)Cgt>Tgt	p.R312C	RASA1_ENST00000506290.1_Missense_Mutation_p.R323C|RASA1_ENST00000512763.1_Missense_Mutation_p.R322C|RASA1_ENST00000274376.6_Missense_Mutation_p.R489C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	489	SH3.				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)		CAAAGGAAAACGTTGGAAAAA	0.274													T	86659176	C	T	86659176	3	4	304	1	0	0	0	0	1	0	0	0	13148	536	19	1	1519	1	RASA1	5	86659176	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		86659176	94256084	6	20773											
ZBTB12	221527	broad.mit.edu	37	chr6	31868387	31868387	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagcctccaatgcccagAccccctcccaggcctccagg	8	4	9	20	1	0	1	0	0	0	1	3	2	3	2	8	3	2	0	8	3	1	0			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:31868387A>G	ENST00000375527.2	-	2	871	c.696T>C	c.(694-696)ggT>ggC	p.G232G	C2_ENST00000469372.1_Intron	NM_181842.2	NP_862825.1	Q9Y330	ZBT12_HUMAN	zinc finger and BTB domain containing 12	232	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|lung(5)|prostate(1)|skin(1)	10						CAATGCCCAGACCCCCTCCCA	0.662													G	31868387	A	G	31868387	2	3	304	1	0	0	0	0	0	0	0	1	17626	262	10	3		3	ZBTB12	6	31868387	Silent	SNP	A	TCGA-DB-5270-01A-02D-1468-08		31868387	139246680	7	20774											
NOTCH4	4855	broad.mit.edu	37	chr6	32178697	32178697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcctccattgtggcaaagGgaagagacgtctatgcctgg	10	8	14	9	1	1	1	0	0	1	1	2	3	2	2	3	4	1	1	3	4	3	2			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr6:32178697G>T	ENST00000375023.3	-	18	2835	c.2697C>A	c.(2695-2697)tcC>tcA	p.S899S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	899	EGF-like 23.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTGGCAAAGGGAAGAGACGT	0.582													T	32178697	G	T	32178697	2	4	304	1	0	0	0	0	0	0	0	1	10627	1219	43	4		4	NOTCH4	6	32178697	Silent	SNP	G	TCGA-DB-5270-01A-02D-1468-08	310310	32178697	138936370	8	20775											
FOXK1	221937	broad.mit.edu	37	chr7	4800775	4800776	+	Frame_Shift_Ins	INS	-	-	C																															gacggtggccagccagatggINScccccggggtccccggacac																										TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:4800775_4800776insC	ENST00000328914.4	+	8	1777_1778	c.1777_1778insC	c.(1777-1779)gccfs	p.A593fs	FOXK1_ENST00000446823.1_Frame_Shift_Ins_p.A430fs	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	593					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CAGCCAGATGGCCCCCGGGGTC	0.673													C	4800776	-	C	4800775	7	5	304	1	0	1	1	0	0	0	0	0	6065	1203	42	0	1807	0	FOXK1	7	4800775	Frame_Shift_Ins	INS	-	TCGA-DB-5270-01A-02D-1468-08		4800775	154337888	9	20776											
TFR2	7036	broad.mit.edu	37	chr7	100229562	100229562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggggtctccagttcccaGgtgcacctgcagggaaaggg	8	7	16	10	0	1	0	0	0	1	0	3	1	2	1	3	5	2	4	3	5	2	2			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr7:100229562G>A	ENST00000462107.1	-	9	1260	c.973C>T	c.(973-975)Ctg>Ttg	p.L325L	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Silent_p.L325L|TFR2_ENST00000431692.1_Intron			Q9UP52	TFR2_HUMAN	transferrin receptor 2	325					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGTTCCCAGGTGCACCTGC	0.577													A	100229562	G	A	100229562	2	1	304	1	0	0	0	0	0	0	0	1	15911	991	35	2		2	TFR2	7	100229562	Silent	SNP	G	TCGA-DB-5270-01A-02D-1468-08	95428787	100229562	58909101	10	20777											
AQP7	364	broad.mit.edu	37	chr9	33395107	33395107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgctcatgaactcggccAggaactctcgcaccatcttc	9	10	8	14	2	3	1	1	1	2	0	6	2	3	2	2	2	3	2	2	2	2	1			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:33395107A>G	ENST00000539936.1	-	3	351	c.113T>C	c.(112-114)cTg>cCg	p.L38P	AQP7_ENST00000377425.4_Intron|AQP7_ENST00000541274.1_5'UTR|AQP7_ENST00000537089.1_5'UTR			O14520	AQP7_HUMAN	aquaporin 7	38			L -> V (in dbSNP:rs2381003).		excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		GAACTCGGCCAGGAACTCTCG	0.587													G	33395107	A	G	33395107	3	3	304	1	0	0	0	0	1	0	0	0	834	188	7	3	939	3	AQP7	9	33395107	Missense_Mutation	SNP	A	TCGA-DB-5270-01A-02D-1468-08		33395107	107818324	11	20778											
TRPM6	140803	broad.mit.edu	37	chr9	77457155	77457155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgggcttttcgttgtgTgcttttcaacagaccattgt	5	18	10	8	1	1	1	1	0	0	1	2	1	1	1	1	1	2	4	1	1	1	7			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr9:77457155T>C	ENST00000451710.3	-	4	494	c.257A>G	c.(256-258)cAc>cGc	p.H86R	TRPM6_ENST00000361255.3_Missense_Mutation_p.H81R|TRPM6_ENST00000449912.2_Missense_Mutation_p.H81R|TRPM6_ENST00000376871.3_Missense_Mutation_p.H86R|TRPM6_ENST00000376864.4_Missense_Mutation_p.H86R|TRPM6_ENST00000359047.2_Missense_Mutation_p.H86R|TRPM6_ENST00000360774.1_Missense_Mutation_p.H86R|TRPM6_ENST00000376872.3_Missense_Mutation_p.H86R			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	86					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTTCGTTGTGTGCTTTTCAAC	0.443													C	77457155	T	C	77457155	3	2	304	1	0	0	0	0	1	0	0	0	16691	1696	59	3	5955	3	TRPM6	9	77457155	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08	44062048	77457155	63756276	12	20779											
HPS1	3257	broad.mit.edu	37	chr10	100195403	100195403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactcaccaggtgaaggaCatacaggaagttgccatttt	13	10	10	8	0	1	2	1	1	0	1	1	4	1	4	2	3	2	1	2	3	4	5			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr10:100195403C>T	ENST00000325103.6	-	4	477	c.244G>A	c.(244-246)Gtc>Atc	p.V82I	HPS1_ENST00000338546.5_Missense_Mutation_p.V82I|HPS1_ENST00000361490.4_Missense_Mutation_p.V82I|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	82					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGGTGAAGGACATACAGGAAG	0.537									Hermansky-Pudlak syndrome				T	100195403	C	T	100195403	3	4	304	1	0	0	0	0	1	0	0	0	7394	478	17	2	1964	2	HPS1	10	100195403	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		100195403	35339344	13	20780											
SBF2	81846	broad.mit.edu	37	chr11	9875143	9875143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtaactccactctctgtaCaaactttgtcaataaatcgg	13	12	6	10	1	2	0	1	0	1	0	5	1	3	0	1	1	3	2	1	1	6	4			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:9875143C>A	ENST00000256190.8	-	20	2617	c.2480G>T	c.(2479-2481)tGt>tTt	p.C827F	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	827					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		ACTCTCTGTACAAACTTTGTC	0.398													A	9875143	C	A	9875143	3	1	304	1	0	0	0	0	1	0	0	0	13951	478	17	4	3153	4	SBF2	11	9875143	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		9875143	125131373	14	20781											
OR5J2	282775	broad.mit.edu	37	chr11	55944144	55944144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtttattcttttgggattGacagatcatgctgaactaaa	12	15	9	5	0	2	3	1	2	1	1	2	5	2	4	0	1	2	2	0	1	4	7			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:55944144G>C	ENST00000312298.1	+	1	51	c.51G>C	c.(49-51)ttG>ttC	p.L17F		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					TTTTGGGATTGACAGATCATG	0.358													C	55944144	G	C	55944144	3	2	304	1	0	0	0	0	1	0	0	0	11241	1281	45	4	53	4	OR5J2	11	55944144	Missense_Mutation	SNP	G	TCGA-DB-5270-01A-02D-1468-08	46069001	55944144	79062372	15	20782											
MMP12	4321	broad.mit.edu	37	chr11	102743820	102743820	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtttgtttatctcaaggCcataaaatttttctaagtat	13	17	6	5	0	2	0	1	0	2	0	3	1	2	0	1	1	0	3	1	1	7	8			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr11:102743820C>T	ENST00000532855.1	-	0	221							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TATCTCAAGGCCATAAAATTT	0.333													T	102743820	C	T	102743820	1	4	304	0	1	0	0	0	0	0	0	0	9726	739	26	2		2	MMP12	11	102743820	RNA	SNP	C	TCGA-DB-5270-01A-02D-1468-08	46799676	102743820	32262696	16	20783											
PIK3C2G	5288	broad.mit.edu	37	chr12	18573895	18573895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttccagatcaagaaattcGtaaagtggcagttcaacaat	15	12	7	7	1	2	2	2	0	0	2	4	2	3	2	1	1	1	3	1	1	6	5			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:18573895G>A	ENST00000433979.1	+	16	2329	c.2213G>A	c.(2212-2214)cGt>cAt	p.R738H	PIK3C2G_ENST00000266497.5_Missense_Mutation_p.R738H|PIK3C2G_ENST00000538779.1_Missense_Mutation_p.R779H	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	738					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				CAAGAAATTCGTAAAGTGGCA	0.363													A	18573895	G	A	18573895	3	1	304	1	0	0	0	0	1	0	0	0	11988	1145	40	1	2271	1	PIK3C2G	12	18573895	Missense_Mutation	SNP	G	TCGA-DB-5270-01A-02D-1468-08		18573895	115278000	17	20784											
CAPRIN2	65981	broad.mit.edu	37	chr12	30863150	30863150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtttctcctaagttgtTcagaagaagatcaaacacaa	18	10	6	7	0	3	3	2	0	1	3	4	3	3	3	1	0	1	3	1	0	7	4			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:30863150T>G	ENST00000251071.5	-	18	3820	c.3070A>C	c.(3070-3072)Aac>Cac	p.N1024H	CAPRIN2_ENST00000395805.2_3'UTR|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.N974H|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.N690H	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	1024	C1q.				negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					CCTAAGTTGTTCAGAAGAAGA	0.443													G	30863150	T	G	30863150	3	3	304	1	0	0	0	0	1	0	0	0	2662	1783	62	5	317	5	CAPRIN2	12	30863150	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08	12289255	30863150	102988745	18	20785											
LETMD1	25875	broad.mit.edu	37	chr12	51449667	51449667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatttctggaccccaaaaCaacaaactgatttcttagat	14	11	6	10	0	2	2	0	1	2	1	2	3	2	3	2	2	3	1	2	2	5	3			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:51449667C>G	ENST00000418425.2	+	5	581	c.562C>G	c.(562-564)Caa>Gaa	p.Q188E	LETMD1_ENST00000552739.1_Missense_Mutation_p.Q58E|LETMD1_ENST00000550929.1_Missense_Mutation_p.Q119E|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000262055.4_Missense_Mutation_p.Q175E	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	175	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						GACCCCAAAACAACAAACTGA	0.413													G	51449667	C	G	51449667	3	3	304	1	0	0	0	0	1	0	0	0	8795	479	17	4	541	4	LETMD1	12	51449667	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	20586517	51449667	82402228	19	20786											
ACVR1B	91	broad.mit.edu	37	chr12	52370109	52370109	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctctcacttgactcAggtcacctcaaggagcctga	8	11	7	15	0	6	2	4	2	2	0	8	3	6	3	3	2	1	0	3	2	1	1			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:52370109A>T	ENST00000257963.4	+	3	408		c.e3-1		ACVR1B_ENST00000542485.1_Splice_Site|ACVR1B_ENST00000415850.2_Splice_Site|ACVR1B_ENST00000541224.1_Splice_Site|ACVR1B_ENST00000426655.2_Splice_Site	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB						G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	CACTTGACTCAGGTCACCTCA	0.532													T	52370109	A	T	52370109	5	4	304	1	0	0	0	0	0	0	1	0	221	202	7	5	340	5	ACVR1B	12	52370109	Splice_Site	SNP	A	TCGA-DB-5270-01A-02D-1468-08	920442	52370109	81481786	20	20787											
TBC1D15	64786	broad.mit.edu	37	chr12	72315226	72315226	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatttctctacagatggtaAaatgcaaggtatacagtgtt	14	13	8	6	0	1	1	0	0	1	1	2	1	1	1	0	2	3	4	0	2	7	6			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr12:72315226A>T	ENST00000550746.1	+	17	1910	c.1846A>T	c.(1846-1848)Aaa>Taa	p.K616*	TBC1D15_ENST00000319106.8_Nonsense_Mutation_p.K607*|TBC1D15_ENST00000393309.3_Nonsense_Mutation_p.K370*|TBC1D15_ENST00000485960.2_Nonsense_Mutation_p.K599*	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	616							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGATGGTAAAATGCAAGGT	0.313													T	72315226	A	T	72315226	4	4	304	1	0	0	0	0	0	1	0	0	15701	15	1	5	2036	5	TBC1D15	12	72315226	Nonsense_Mutation	SNP	A	TCGA-DB-5270-01A-02D-1468-08	19945117	72315226	61536669	21	20788											
TCF12	6938	broad.mit.edu	37	chr15	57524958	57524962	+	Frame_Shift_Del	DEL	CCACC	CCACC	-																															cagacataaacacgagtcttCcaccaatgtccagctttcat																										TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:57524958_57524962delCCACC	ENST00000267811.5	+	11	1178_1182	c.874_878delCCACC	c.(874-879)ccaccafs	p.PP292fs	TCF12_ENST00000452095.2_Frame_Shift_Del_p.PP288fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.PP56fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.PP292fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.PP122fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.PP292fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	292					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACGAGTCTTCCACCAATGTCCAGC	0.424			T	TEC	extraskeletal myxoid chondrosarcoma								-	57524962	CCACC	-	57524958	7	5	304	1	0	1	0	1	0	0	0	0	15787	855	30	0	985	0	TCF12	15	57524958	Frame_Shift_Del	DEL	CCACC	TCGA-DB-5270-01A-02D-1468-08		57524958	45006434	22	20789											
NEO1	4756	broad.mit.edu	37	chr15	73581488	73581488	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccacgtttaacatctaggGcatgagtcagaggacagcat	12	9	10	10	1	2	2	1	1	1	1	3	3	3	3	1	2	2	3	1	2	2	3	rs150727403		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr15:73581488G>A	ENST00000339362.5	+	26	4098	c.3651G>A	c.(3649-3651)ggG>ggA	p.G1217G	NEO1_ENST00000558964.1_Splice_Site_p.G1206G|NEO1_ENST00000560262.1_Splice_Site_p.G1217G|NEO1_ENST00000261908.6_Splice_Site_p.G1217G			Q92859	NEO1_HUMAN	neogenin 1	1217					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AACATCTAGGGCATGAGTCAG	0.488													A	73581488	G	A	73581488	5	1	304	1	0	0	0	0	0	0	1	0	10412	1217	42	2	3749	2	NEO1	15	73581488	Splice_Site	SNP	G	TCGA-DB-5270-01A-02D-1468-08	16056530	73581488	28949904	23	20790											
HYDIN	54768	broad.mit.edu	37	chr16	71098695	71098695	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtacttcaggaagcagtgCccaaagtccacctctgtatt	10	10	10	11	0	2	0	1	0	1	0	3	1	3	1	3	2	3	3	3	2	4	4			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr16:71098695C>G	ENST00000393567.2	-	16	2274	c.2124G>C	c.(2122-2124)ggG>ggC	p.G708G	HYDIN_ENST00000321489.5_Silent_p.G708G|HYDIN_ENST00000448089.2_Silent_p.G708G|HYDIN_ENST00000541601.1_Silent_p.G725G|HYDIN_ENST00000538248.1_Silent_p.G735G|HYDIN_ENST00000448691.1_Silent_p.G708G	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	708										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCAGTGCCCAAAGTCCA	0.502													G	71098695	C	G	71098695	2	3	304	1	0	0	0	0	0	0	0	1	7525	726	26	4		4	HYDIN	16	71098695	Silent	SNP	C	TCGA-DB-5270-01A-02D-1468-08		71098695	19256058	24	20791											
TP53	7157	broad.mit.edu	37	chr17	7577580	7577580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgttacacatgtagttgTagtggatggtggtacagtca	11	13	12	5	0	1	0	1	0	0	0	1	1	1	1	0	3	3	5	0	3	5	5			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7577580T>C	ENST00000420246.2	-	7	833	c.701A>G	c.(700-702)tAc>tGc	p.Y234C	TP53_ENST00000359597.4_Missense_Mutation_p.Y234C|TP53_ENST00000269305.4_Missense_Mutation_p.Y234C|TP53_ENST00000413465.2_Missense_Mutation_p.Y234C|TP53_ENST00000455263.2_Missense_Mutation_p.Y234C|TP53_ENST00000445888.2_Missense_Mutation_p.Y234C|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	234	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 -> K (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> N (in sporadic cancers; somatic mutation).|Y -> Q (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> S (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.Y234C(94)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.?(5)|p.Y234del(3)|p.Y141S(2)|p.I232_Y236delIHYNY(1)|p.Y234fs*2(1)|p.Y234F(1)|p.T230_Y234delTTIHY(1)|p.H233fs*6(1)|p.Y234R(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.I232fs*5(1)|p.H233_C242del10(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)		CATGTAGTTGTAGTGGATGGT	0.572		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)			C	7577580	T	C	7577580	3	2	304	1	0	0	0	0	1	0	0	0	16482	1638	57	3	589	3	TP53	17	7577580	Missense_Mutation	SNP	T	TCGA-DB-5270-01A-02D-1468-08		7577580	73617630	25	20792											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	7	5	18	11	4	1	0	1	0	0	0	1	2	1	1	2	5	3	1	2	5	2	0	rs28934874		TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			A	7578479	G	A	7578479	3	1	304	1	0	0	0	0	1	0	0	0	16482	1261	44	2	847	2	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-DB-5270-01A-02D-1468-08	899	7578479	73616731	26	20793											
MUC16	94025	broad.mit.edu	37	chr19	9046721	9046721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactagtgtctgttgcagaaCtagtgacctgtgaggtcact	9	13	11	8	0	2	3	1	2	1	1	2	3	2	3	1	1	3	2	1	1	4	4			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:9046721C>A	ENST00000397910.4	-	5	35113	c.34910G>T	c.(34909-34911)aGt>aTt	p.S11637I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11639	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						TGTTGCAGAACTAGTGACCTG	0.522													A	9046721	C	A	9046721	3	1	304	1	0	0	0	0	1	0	0	0	10049	565	20	4	8933	4	MUC16	19	9046721	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08		9046721	50082262	27	20794											
HKR1	284459	broad.mit.edu	37	chr19	37854228	37854228	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctttacccggaaatcaAccctgagcacgcaccagagg	12	5	11	13	2	1	2	1	1	0	1	1	4	1	3	3	3	3	3	3	3	3	2			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:37854228A>T	ENST00000591471.1	+	9	2353	c.712A>T	c.(712-714)Acc>Tcc	p.T238S	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000541583.2_Missense_Mutation_p.T450S|HKR1_ENST00000544914.1_Missense_Mutation_p.T238S|HKR1_ENST00000392153.3_Missense_Mutation_p.T492S|HKR1_ENST00000589392.1_Missense_Mutation_p.T493S|HKR1_ENST00000324411.4_Missense_Mutation_p.T511S			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	511					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CCGGAAATCAACCCTGAGCAC	0.507													T	37854228	A	T	37854228	3	4	304	1	0	0	0	0	1	0	0	0	7249	43	2	5	1545	5	HKR1	19	37854228	Missense_Mutation	SNP	A	TCGA-DB-5270-01A-02D-1468-08	28807507	37854228	21274755	28	20795											
FOXA3	3171	broad.mit.edu	37	chr19	46376150	46376150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggagctgaagctggacgCgccctacaacttcaaccacc	11	5	11	14	2	1	1	1	1	0	0	1	3	1	3	3	3	5	2	3	3	4	2			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr19:46376150C>T	ENST00000302177.2	+	2	1084	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_004497.2	NP_004488.2	P55318	FOXA3_HUMAN	forkhead box A3	296					brain development|cellular glucose homeostasis|cellular response to starvation|chromatin modification|embryo development|endocrine pancreas development|negative regulation of cell proliferation|neural plate anterior/posterior regionalization|neuron fate specification|positive regulation of hepatocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	13		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00453)|GBM - Glioblastoma multiforme(486;0.0518)|Epithelial(262;0.236)		AAGCTGGACGCGCCCTACAAC	0.602													T	46376150	C	T	46376150	3	4	304	1	0	0	0	0	1	0	0	0	6040	768	27	1	893	1	FOXA3	19	46376150	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	8521922	46376150	12752833	29	20796											
PCSK2	5126	broad.mit.edu	37	chr20	17462658	17462658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaaagaggagctggaGgaagagctggacgaagccgt	14	4	16	7	2	0	3	0	0	0	3	1	8	1	7	2	4	3	2	2	4	4	0			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:17462658G>A	ENST00000262545.2	+	12	2175	c.1860G>A	c.(1858-1860)gaG>gaA	p.E620E	PCSK2_ENST00000536609.1_Silent_p.E585E|PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Silent_p.E601E	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	620					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGAGCTGGAGGAAGAGCTGG	0.587													A	17462658	G	A	17462658	2	1	304	1	0	0	0	0	0	0	0	1	11677	991	35	2		2	PCSK2	20	17462658	Silent	SNP	G	TCGA-DB-5270-01A-02D-1468-08		17462658	45562862	30	20797											
SLC24A3	57419	broad.mit.edu	37	chr20	19664885	19664885	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcagcctacccacaccagCtttccttctctgaggctggc	6	11	8	16	0	2	1	1	1	1	0	4	1	3	1	4	2	3	2	4	2	1	3			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr20:19664885C>G	ENST00000328041.6	+	11	1164	c.967C>G	c.(967-969)Ctt>Gtt	p.L323V		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	323						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCCACACCAGCTTTCCTTCTC	0.498													G	19664885	C	G	19664885	3	3	304	1	0	0	0	0	1	0	0	0	14561	797	28	4	1009	4	SLC24A3	20	19664885	Missense_Mutation	SNP	C	TCGA-DB-5270-01A-02D-1468-08	2202227	19664885	43360635	31	20798											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													C	11058353	T	C	11058353	1	2	304	0	1	0	0	0	0	0	0	0	1297	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-DB-5270-01A-02D-1468-08		11058353	37071542	32	20799											
RTN4R	65078	broad.mit.edu	37	chr22	20229582	20229582	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcggcacgcgtcccttcagCgcattgcctgccgaagctgg	5	7	14	15	5	1	0	1	0	0	0	2	1	2	0	3	3	4	3	3	3	1	2			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:20229582C>T	ENST00000043402.7	-	2	1512	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	358					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					GTCCCTTCAGCGCATTGCCTG	0.662													T	20229582	C	T	20229582	2	4	304	1	0	0	0	0	0	0	0	1	13821	755	27	1		1	RTN4R	22	20229582	Silent	SNP	C	TCGA-DB-5270-01A-02D-1468-08		20229582	31074984	33	20800											
DEPDC5	9681	broad.mit.edu	37	chr22	32293560	32293560	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagttacctgtatggCgacccccttcgtgcccagct	5	10	9	17	2	0	0	0	0	0	0	1	1	0	0	5	1	4	3	5	1	2	3			TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chr22:32293560C>T	ENST00000400246.1	+	40	4438	c.4296C>T	c.(4294-4296)ggC>ggT	p.G1432G	DEPDC5_ENST00000400248.2_Silent_p.G1401G|DEPDC5_ENST00000535622.1_Silent_p.G1332G|DEPDC5_ENST00000539165.1_Silent_p.G249G|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Silent_p.G1423G|DEPDC5_ENST00000266091.3_Silent_p.G1410G|DEPDC5_ENST00000400249.2_Silent_p.G1401G|DEPDC5_ENST00000382111.2_Silent_p.G1432G			O75140	DEPD5_HUMAN	DEP domain containing 5	1401					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						ACCTGTATGGCGACCCCCTTC	0.547													T	32293560	C	T	32293560	2	4	304	1	0	0	0	0	0	0	0	1	4481	755	27	1		1	DEPDC5	22	32293560	Silent	SNP	C	TCGA-DB-5270-01A-02D-1468-08	12063978	32293560	19011006	34	20801											
ATRX	546	broad.mit.edu	37	chrX	76939371	76939372	+	Frame_Shift_Ins	INS	-	-	T																															ttgaaagtttagcttctgacINStttgaaatatccttcttttc																										TCGA-DB-5270-01A-02D-1468-08	TCGA-DB-5270-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27da0280-b7dc-43ba-a50a-2e9a2c6b1bcf	a52afc7f-a694-44cb-8235-ef78e8c30fa2	g.chrX:76939371_76939372insT	ENST00000373344.5	-	9	1590_1591	c.1376_1377insA	c.(1375-1377)aagfs	p.K459fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K421fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	459					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)	TAGCTTCTGACTTTGAAATATC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939372	-	T	76939371	7	5	304	1	0	1	1	0	0	0	0	0	1213	564	20	0	6209	0	ATRX	23	76939371	Frame_Shift_Ins	INS	-	TCGA-DB-5270-01A-02D-1468-08		76939371	78331189	35	20802											
SLC30A2	7780	broad.mit.edu	37	chr1	26371659	26371659	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagtccaggccaggtcgggGcagaggaatccagccagccc	10	3	14	14	1	0	1	0	0	0	1	3	2	2	2	5	5	2	1	5	5	2	0			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:26371659G>C	ENST00000374278.3	-	2	316	c.100C>G	c.(100-102)Ccc>Gcc	p.P34A	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.P34A	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	34					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity			cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		CCAGGTCGGGGCAGAGGAATC	0.597													C	26371659	G	C	26371659	3	2	305	1	0	0	0	0	1	0	0	0	14649	1203	42	4	1046	4	SLC30A2	1	26371659	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		26371659	222878962	1	20803											
ROR1	4919	broad.mit.edu	37	chr1	64515592	64515592	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacacaggctacttccagtgCgtggcaacaaacggcaagga	13	5	12	11	2	0	0	0	0	0	0	1	2	1	1	1	4	4	3	1	4	4	2	rs148616064		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:64515592C>T	ENST00000371079.1	+	3	768	c.393C>T	c.(391-393)tgC>tgT	p.C131C	ROR1_ENST00000482426.1_3'UTR|ROR1_ENST00000371080.1_Silent_p.C131C	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	131	Ig-like C2-type.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						ACTTCCAGTGCGTGGCAACAA	0.567													T	64515592	C	T	64515592	2	4	305	1	0	0	0	0	0	0	0	1	13617	776	27	1		1	ROR1	1	64515592	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08	38143933	64515592	184735029	2	20804											
HFM1	164045	broad.mit.edu	37	chr1	91818120	91818120	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttcactgtactcttcAaacagtcctccagcataatg	10	14	5	12	0	4	0	2	0	2	0	6	0	6	0	2	0	3	3	2	0	3	4			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:91818120A>G	ENST00000370425.3	-	16	2018	c.1920T>C	c.(1918-1920)ttT>ttC	p.F640F	HFM1_ENST00000370424.3_Silent_p.F319F|HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	640	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTACTCTTCAAACAGTCCTC	0.358													G	91818120	A	G	91818120	2	3	305	1	0	0	0	0	0	0	0	1	7138	127	5	3		3	HFM1	1	91818120	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	27302528	91818120	157432501	3	20805											
PGLYRP4	57115	broad.mit.edu	37	chr1	153313006	153313006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagagtcatcctgggacaGtgggtctccctggctcccca	6	8	14	13	0	2	1	1	0	1	1	5	3	4	2	4	4	0	1	4	4	0	0			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:153313006G>C	ENST00000368739.3	-	7	1021	c.663C>G	c.(661-663)caC>caG	p.H221Q	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.H225Q			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	225					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCCTGGGACAGTGGGTCTCCC	0.602													C	153313006	G	C	153313006	3	2	305	1	0	0	0	0	1	0	0	0	11873	1020	36	4	458	4	PGLYRP4	1	153313006	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	61494886	153313006	95937615	4	20806											
RYR2	6262	broad.mit.edu	37	chr1	237619969	237619969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcagcacactttgctGatgttgctgggcgagaagca	9	9	14	9	1	0	2	0	1	0	1	0	3	0	2	0	1	5	7	0	1	1	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr1:237619969G>T	ENST00000366574.2	+	16	1863	c.1546G>T	c.(1546-1548)Gat>Tat	p.D516Y	RYR2_ENST00000360064.6_Missense_Mutation_p.D514Y|RYR2_ENST00000542537.1_Missense_Mutation_p.D500Y	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	516					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACTTTGCTGATGTTGCTGG	0.438													T	237619969	G	T	237619969	3	4	305	1	0	0	0	0	1	0	0	0	13860	1290	45	4	1608	4	RYR2	1	237619969	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	84306963	237619969	11630652	5	20807											
GPR45	11250	broad.mit.edu	37	chr2	105858978	105858978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatgtgcatcctcaacacGgtccgcaagaacgccgtgcg	10	7	10	14	5	1	1	1	0	0	1	3	1	3	1	3	1	5	2	3	1	4	1	rs141451236		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:105858978G>A	ENST00000258456.1	+	1	779	c.663G>A	c.(661-663)acG>acA	p.T221T		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	221						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						TCCTCAACACGGTCCGCAAGA	0.677													A	105858978	G	A	105858978	2	1	305	1	0	0	0	0	0	0	0	1	6750	1103	39	1		1	GPR45	2	105858978	Silent	SNP	G	TCGA-DB-5273-01A-01D-1468-08		105858978	137340395	6	20808											
NEB	4703	broad.mit.edu	37	chr2	152406213	152406213	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtgtcacctggaagtctAtatccagtgggcagggtgcg	8	9	16	8	1	2	0	1	0	1	0	3	2	3	2	2	4	1	1	2	4	3	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:152406213A>G	ENST00000397345.3	-	130	20188	c.19986T>C	c.(19984-19986)taT>taC	p.Y6662Y	NEB_ENST00000172853.10_Silent_p.Y4961Y|NEB_ENST00000427231.2_Silent_p.Y6662Y|NEB_ENST00000604864.1_Silent_p.Y6662Y|NEB_ENST00000603639.1_Silent_p.Y6662Y|NEB_ENST00000409198.1_Silent_p.Y4961Y	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	4961	SH3.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGGAAGTCTATATCCAGTGG	0.488													G	152406213	A	G	152406213	2	3	305	1	0	0	0	0	0	0	0	1	10378	456	16	3		3	NEB	2	152406213	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	46547235	152406213	90793160	7	20809											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	305	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	56706899	209113112	34086261	8	20810											
SNED1	25992	broad.mit.edu	37	chr2	241969887	241969887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccgagccacggaggacGtcaggcactacttccccgag	8	5	13	15	5	1	0	1	0	0	0	2	4	2	2	4	3	3	1	4	3	1	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr2:241969887G>A	ENST00000310397.8	+	2	400	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	SNED1_ENST00000342631.6_Missense_Mutation_p.V134I|SNED1_ENST00000405547.3_Missense_Mutation_p.V134I|SNED1_ENST00000401884.1_Missense_Mutation_p.V134I|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	134	NIDO.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CACGGAGGACGTCAGGCACTA	0.627													A	241969887	G	A	241969887	3	1	305	1	0	0	0	0	1	0	0	0	14939	1145	40	1	406	1	SNED1	2	241969887	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	32856775	241969887	1229486	9	20811											
TLR1	7096	broad.mit.edu	37	chr4	38799315	38799315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttttaattgattcatttGtaaaataagtgtctccaact	12	19	4	6	0	3	1	1	1	2	0	4	1	3	1	1	0	1	1	1	0	5	8			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr4:38799315G>T	ENST00000308979.2	-	4	1411	c.1138C>A	c.(1138-1140)Caa>Aaa	p.Q380K	TLR1_ENST00000502213.2_Missense_Mutation_p.Q380K	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	380					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TGATTCATTTGTAAAATAAGT	0.343													T	38799315	G	T	38799315	3	4	305	1	0	0	0	0	1	0	0	0	16049	1386	48	4	1226	4	TLR1	4	38799315	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		38799315	152354961	10	20812											
RUFY1	80230	broad.mit.edu	37	chr5	179016595	179016595	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcaagaagaacagcagCagttaagagaacaaaatgaa	21	5	8	7	0	1	4	1	1	0	3	1	5	1	4	0	0	4	3	0	0	8	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr5:179016595C>T	ENST00000319449.4	+	9	1087	c.1075C>T	c.(1075-1077)Cag>Tag	p.Q359*	RUFY1_ENST00000437570.2_Nonsense_Mutation_p.Q251*|RUFY1_ENST00000393438.2_Nonsense_Mutation_p.Q251*|RUFY1_ENST00000377001.2_Missense_Mutation_p.A407V	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	359					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGAACAGCAGCAGTTAAGAGA	0.353										HNSCC(44;0.11)			T	179016595	C	T	179016595	4	4	305	1	0	0	0	0	0	1	0	0	13829	711	25	2	1109	2	RUFY1	5	179016595	Nonsense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08		179016595	1898665	11	20813											
ARMC2	84071	broad.mit.edu	37	chr6	109294621	109294621	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaactatcacaaactccaTtgggaaacagaattcaaacc	20	7	4	10	0	2	1	2	0	0	1	3	2	3	2	2	1	4	0	2	1	7	3			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr6:109294621T>C	ENST00000392644.4	+	18	2676	c.2508T>C	c.(2506-2508)caT>caC	p.H836H	ARMC2_ENST00000368972.3_Silent_p.H671H	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	836							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		ACAAACTCCATTGGGAAACAG	0.393													C	109294621	T	C	109294621	2	2	305	1	0	0	0	0	0	0	0	1	956	1490	52	3		3	ARMC2	6	109294621	Silent	SNP	T	TCGA-DB-5273-01A-01D-1468-08		109294621	61820446	12	20814											
OR2A12	346525	broad.mit.edu	37	chr7	143793006	143793006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccattctcaagaacGgaggaagatcctttccctgt	11	10	9	11	1	2	2	2	0	1	2	5	4	4	4	3	2	2	0	3	2	4	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr7:143793006G>A	ENST00000408949.2	+	1	866	c.806G>A	c.(805-807)cGg>cAg	p.R269Q		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					TCTCAAGAACGGAGGAAGATC	0.527													A	143793006	G	A	143793006	3	1	305	1	0	0	0	0	1	0	0	0	11051	1116	39	1	808	1	OR2A12	7	143793006	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		143793006	15345657	13	20815											
ADAM32	203102	broad.mit.edu	37	chr8	39091490	39091490	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcaagaaaatggtgatgtGatttatgctttcgtacgaga	13	13	10	5	2	1	4	1	2	0	2	2	5	1	4	0	1	2	2	0	1	5	4			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr8:39091490G>C	ENST00000379907.4	+	16	1834	c.1707G>C	c.(1705-1707)gtG>gtC	p.V569V	ADAM32_ENST00000519315.1_Silent_p.V463V|ADAM32_ENST00000437682.2_Silent_p.V470V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	569					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			ATGGTGATGTGATTTATGCTT	0.368													C	39091490	G	C	39091490	2	2	305	1	0	0	0	0	0	0	0	1	249	1277	45	4		4	ADAM32	8	39091490	Silent	SNP	G	TCGA-DB-5273-01A-01D-1468-08		39091490	107272532	14	20816											
OR5M8	219484	broad.mit.edu	37	chr11	56258829	56258829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatgaactcagtcaccaaCgtgcagtttcttctcataat	13	12	6	10	1	4	2	3	1	2	1	5	2	4	2	1	0	3	2	1	0	4	3	rs137871700		TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:56258829C>T	ENST00000327216.2	-	1	42	c.18G>A	c.(16-18)acG>acA	p.T6T		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	6					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CAGTCACCAACGTGCAGTTTC	0.408													T	56258829	C	T	56258829	2	4	305	1	0	0	0	0	0	0	0	1	11252	523	19	1		1	OR5M8	11	56258829	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08		56258829	78747687	15	20817											
SESN3	143686	broad.mit.edu	37	chr11	94923103	94923103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcatgtttattaagtaaGaacactgatgtctagctgca	13	13	8	7	0	1	2	0	1	1	1	1	2	1	2	0	0	4	5	0	0	5	5			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr11:94923103G>A	ENST00000536441.1	-	4	701	c.365C>T	c.(364-366)tCt>tTt	p.S122F	RP11-712B9.2_ENST00000534864.1_RNA|RP11-712B9.2_ENST00000534891.1_RNA|SESN3_ENST00000416495.2_Missense_Mutation_p.S122F|SESN3_ENST00000278499.2_Intron|SESN3_ENST00000393234.1_Missense_Mutation_p.S122F	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	122					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TATTAAGTAAGAACACTGATG	0.328													A	94923103	G	A	94923103	3	1	305	1	0	0	0	0	1	0	0	0	14219	942	33	2	1141	2	SESN3	11	94923103	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08	38664274	94923103	40083413	16	20818											
LIMA1	51474	broad.mit.edu	37	chr12	50586281	50586281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagaaagactggaggctctgGaatctggacttagtggcttg	10	10	14	7	0	2	2	0	0	2	2	2	5	2	5	0	5	0	2	0	5	3	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:50586281G>A	ENST00000547825.1	-	3	1457	c.188C>T	c.(187-189)tCc>tTc	p.S63F	LIMA1_ENST00000552783.1_Missense_Mutation_p.S206F|LIMA1_ENST00000394943.3_Missense_Mutation_p.S366F|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000341247.4_Missense_Mutation_p.S365F|LIMA1_ENST00000552491.1_Missense_Mutation_p.S63F|LIMA1_ENST00000552909.1_Missense_Mutation_p.S205F|LIMA1_ENST00000552823.1_Missense_Mutation_p.S205F	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	365					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGAGGCTCTGGAATCTGGACT	0.458													A	50586281	G	A	50586281	3	1	305	1	0	0	0	0	1	0	0	0	8856	1174	41	2	1197	2	LIMA1	12	50586281	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		50586281	83265614	17	20819											
RBMS2	5939	broad.mit.edu	37	chr12	56975653	56975653	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctatgaccccaccacagctCttcagaatgggtaaggtttt	10	11	8	12	0	2	2	1	1	1	1	2	2	2	2	4	2	1	3	4	2	3	5			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:56975653C>G	ENST00000262031.5	+	8	864	c.769C>G	c.(769-771)Ctt>Gtt	p.L257V	RBMS2_ENST00000550726.1_Missense_Mutation_p.L132V|RBMS2_ENST00000552247.2_Missense_Mutation_p.L257V|RBMS2_ENST00000542360.1_Missense_Mutation_p.L112V	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2	257					RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						CACCACAGCTCTTCAGAATGG	0.433													G	56975653	C	G	56975653	3	3	305	1	0	0	0	0	1	0	0	0	13237	913	32	4	799	4	RBMS2	12	56975653	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	6389372	56975653	76876242	18	20820											
TMEM132D	121256	broad.mit.edu	37	chr12	130185090	130185090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagaaatgactccaccCgggactgcaggctggagttc	12	7	11	11	1	1	2	1	1	0	1	3	4	2	4	2	3	1	3	2	3	2	1			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr12:130185090C>T	ENST00000422113.2	-	2	559	c.233G>A	c.(232-234)cGg>cAg	p.R78Q		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	78						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TGACTCCACCCGGGACTGCAG	0.547													T	130185090	C	T	130185090	3	4	305	1	0	0	0	0	1	0	0	0	16147	652	23	1	3098	1	TMEM132D	12	130185090	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08	73209437	130185090	3666805	19	20821											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	305	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DB-5273-01A-01D-1468-08		7577120	73618090	20	20822											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	5	9	11	16	1	0	0	0	0	0	0	1	0	1	0	6	1	5	6	6	1	1	2	rs143952367	by1000genomes	TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G	39261778	A	G	39261778	2	3	305	1	0	0	0	0	0	0	0	1	8616	436	16	3		3	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-DB-5273-01A-01D-1468-08	31684658	39261778	41933432	21	20823											
TCEB3B	51224	broad.mit.edu	37	chr18	44561501	44561501	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttctgattccagtctcCgccaggatgtctgccgtcat	5	14	9	13	2	5	1	1	1	4	0	7	2	6	2	4	1	1	0	4	1	0	2			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr18:44561501C>T	ENST00000332567.4	-	1	487	c.135G>A	c.(133-135)gcG>gcA	p.A45A	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	45	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TTCCAGTCTCCGCCAGGATGT	0.577													T	44561501	C	T	44561501	2	4	305	1	0	0	0	0	0	0	0	1	15782	639	23	1		1	TCEB3B	18	44561501	Silent	SNP	C	TCGA-DB-5273-01A-01D-1468-08		44561501	33515747	22	20824											
PPP1R12C	54776	broad.mit.edu	37	chr19	55607493	55607493	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caccaggccggcgctccttgGacaagtcctggagggaaatc	9	6	13	13	2	0	0	0	0	0	0	3	3	2	3	4	5	0	1	4	5	2	1			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chr19:55607493G>C	ENST00000263433.3	-	8	1094	c.1079C>G	c.(1078-1080)tCc>tGc	p.S360C	PPP1R12C_ENST00000376393.2_Missense_Mutation_p.S360C|PPP1R12C_ENST00000435544.2_Missense_Mutation_p.S286C	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	360						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GCGCTCCTTGGACAAGTCCTG	0.657													C	55607493	G	C	55607493	3	2	305	1	0	0	0	0	1	0	0	0	12438	1174	41	4	1329	4	PPP1R12C	19	55607493	Missense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		55607493	3521490	23	20825											
ATRX	546	broad.mit.edu	37	chrX	76939964	76939964	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaatgtagcaataccattGgttgttttcatccattattg	12	16	6	7	0	1	0	1	0	0	0	2	0	2	0	2	1	2	4	2	1	5	8			TCGA-DB-5273-01A-01D-1468-08	TCGA-DB-5273-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	938f1aec-2069-4c76-8110-7f086b59e86b	54997159-244a-485c-a81f-e546b76046e8	g.chrX:76939964G>A	ENST00000373344.5	-	9	998	c.784C>T	c.(784-786)Caa>Taa	p.Q262*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q224*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	262	ADD.				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)	CAATACCATTGGTTGTTTTCA	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939964	G	A	76939964	4	1	305	1	0	0	0	0	0	1	0	0	1213	1357	47	2	6802	2	ATRX	23	76939964	Nonsense_Mutation	SNP	G	TCGA-DB-5273-01A-01D-1468-08		76939964	78330596	24	20826											
HSPG2	3339	broad.mit.edu	37	chr1	22211318	22211318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaacaccatgccccgggcGttcatggcctcacaggtgta	9	7	10	15	2	2	0	2	0	0	0	2	0	2	0	5	3	2	2	5	3	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:22211318G>A	ENST00000374695.3	-	12	1528	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	483	Ig-like C2-type 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGCCCCGGGCGTTCATGGCCT	0.627													A	22211318	G	A	22211318	2	1	306	1	0	0	0	0	0	0	0	1	7488	1136	40	1		1	HSPG2	1	22211318	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08		22211318	227039303	1	20827											
FUBP1	8880	broad.mit.edu	37	chr1	78432402	78432405	+	Frame_Shift_Del	DEL	AACA	AACA	-																															cagattcaggtgttccagttAacatacaggacctttctgga																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:78432402_78432405delAACA	ENST00000370767.1	-	7	533_536	c.446_449delTGTT	c.(445-450)atgttafs	p.ML149fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.ML170fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.ML149fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	149	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTCCAGTTAACATACAGGACCT	0.338			"F, N"		oligodendroglioma								-	78432405	AACA	-	78432402	7	5	306	1	0	1	0	1	0	0	0	0	6144	372	13	0	1541	0	FUBP1	1	78432402	Frame_Shift_Del	DEL	AACA	TCGA-DB-5274-01A-01D-1468-08	56221084	78432402	170818219	2	20828											
BTBD8	284697	broad.mit.edu	37	chr1	92546168	92546168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgcggcccccatggtaCttctggggtccgctggagtt	4	10	15	12	2	1	0	0	0	1	0	2	1	2	1	3	5	2	4	3	5	1	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:92546168C>T	ENST00000370382.3	+	1	307	c.40C>T	c.(40-42)Ctt>Ttt	p.L14F	BTBD8_ENST00000342818.3_Missense_Mutation_p.L14F|BTBD8_ENST00000540648.1_Missense_Mutation_p.L14F			Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	14						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CCCCATGGTACTTCTGGGGTC	0.657													T	92546168	C	T	92546168	3	4	306	1	0	0	0	0	1	0	0	0	1557	565	20	2	42	2	BTBD8	1	92546168	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14113766	92546168	156704453	3	20829											
FAM102B	284611	broad.mit.edu	37	chr1	109103056	109103058	+	In_Frame_Del	DEL	GAA	GAA	-																															cgcctggctctcacgatgatGaagaagaagaagtttaagtt																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:109103056_109103058delGAA	ENST00000370035.3	+	1	346_348	c.6_8delGAA	c.(4-9)atgaag>atg	p.K6del	FAM102B_ENST00000405454.1_In_Frame_Del_p.K6del	NM_001010883.2	NP_001010883.2	Q5T8I3	F102B_HUMAN	family with sequence similarity 102, member B	6	Poly-Lys.									autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(167;5.52e-05)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0217)|Lung(183;0.109)|COAD - Colon adenocarcinoma(174;0.141)|Epithelial(280;0.182)		TCACGATGATGAAGAAGAAGAAG	0.64													-	109103058	GAA	-	109103056	7	5	306	1	0	1	0	1	0	0	0	0	5428	1290	45	0	8	0	FAM102B	1	109103056	In_Frame_Del	DEL	GAA	TCGA-DB-5274-01A-01D-1468-08	16556888	109103056	140147565	4	20830											
C1orf56	54964	broad.mit.edu	37	chr1	151021328	151021331	+	Splice_Site	DEL	AGTA	AGTA	-																															gtgttcacagagatgcaaccAgtaagtgtttggtgatgagc																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:151021328_151021331delAGTA	ENST00000368926.5	+	1	1113	c.1005delAGTA	c.(1003-1005)cca>cc	p.P335fs	C1orf56_ENST00000465135.1_3'UTR	NM_017860.3	NP_060330.2	Q9BUN1	CA056_HUMAN	chromosome 1 open reading frame 56	335						extracellular region				endometrium(1)|kidney(1)|lung(3)|ovary(1)|prostate(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGATGCAACCAGTAAGTGTTTGGT	0.505											OREG0013793	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	151021331	AGTA	-	151021328	8	5	306	1	0	1	0	1	0	0	1	0	2069	202	7	0	1007	0	C1orf56	1	151021328	Splice_Site	DEL	AGTA	TCGA-DB-5274-01A-01D-1468-08	41918272	151021328	98229293	5	20831											
TPR	7175	broad.mit.edu	37	chr1	186315342	186315342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctctacttccatcaaCttcttttccaactgtgtctg	6	18	3	14	0	4	0	1	0	3	0	8	0	7	0	3	0	3	0	3	0	3	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:186315342C>G	ENST00000367478.4	-	23	3317	c.3021G>C	c.(3019-3021)aaG>aaC	p.K1007N		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CTTCCATCAACTTCTTTTCCA	0.353			T	NTRK1	papillary thyroid								G	186315342	C	G	186315342	3	3	306	1	0	0	0	0	1	0	0	0	16517	564	20	4	4186	4	TPR	1	186315342	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	35294014	186315342	62935279	6	20832											
HHAT	55733	broad.mit.edu	37	chr1	210761338	210761338	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgagctactggcatggCggctacgactacctctggtg	6	12	13	10	2	1	1	0	1	1	0	1	2	1	1	1	4	4	3	1	4	3	4	rs139136517		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr1:210761338C>T	ENST00000367010.1	+	10	1367	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G	HHAT_ENST00000413764.2_Silent_p.G380G|HHAT_ENST00000391905.3_Silent_p.G380G|HHAT_ENST00000537898.1_Silent_p.G315G|HHAT_ENST00000261458.3_Silent_p.G380G|HHAT_ENST00000367009.1_Silent_p.G70G|HHAT_ENST00000545154.1_Silent_p.G381G|HHAT_ENST00000541565.1_Silent_p.G243G|HHAT_ENST00000308852.6_Silent_p.G335G|HHAT_ENST00000545781.1_Silent_p.G317G	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	380					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		ACTGGCATGGCGGCTACGACT	0.587													T	210761338	C	T	210761338	2	4	306	1	0	0	0	0	0	0	0	1	7144	755	27	1		1	HHAT	1	210761338	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	24445996	210761338	38489283	7	20833											
EPC2	26122	broad.mit.edu	37	chr2	149511681	149511682	+	Frame_Shift_Del	DEL	AG	AG	-																															gttgcctttcggagaagaacAgagaaaatgcaaactcgaaa																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:149511681_149511682delAG	ENST00000258484.6	+	4	679_680	c.645_646delAG	c.(643-648)acagagfs	p.E216fs		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	216					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GGAGAAGAACAGAGAAAATGCA	0.361													-	149511682	AG	-	149511681	7	5	306	1	0	1	0	1	0	0	0	0	5202	175	7	0	659	0	EPC2	2	149511681	Frame_Shift_Del	DEL	AG	TCGA-DB-5274-01A-01D-1468-08		149511681	93687692	8	20834											
TTN	7273	broad.mit.edu	37	chr2	179435116	179435116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtccaaactaagcggCtggtttctctcctttccaca	9	11	6	15	1	1	0	0	0	1	0	5	0	4	0	4	2	2	2	4	2	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179435116C>A	ENST00000589042.1	-	326	75967	c.75743G>T	c.(75742-75744)aGc>aTc	p.S25248I	TTN_ENST00000342992.6_Missense_Mutation_p.S22680I|TTN_ENST00000342175.6_Missense_Mutation_p.S16375I|TTN_ENST00000591111.1_Missense_Mutation_p.S23607I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S16308I|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.S16183I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23607	Ig-like 124.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTAAGCGGCTGGTTTCTCT	0.438													A	179435116	C	A	179435116	3	1	306	1	0	0	0	0	1	0	0	0	16837	797	28	4	32384	4	TTN	2	179435116	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	29923435	179435116	63764257	9	20835											
TTN	7273	broad.mit.edu	37	chr2	179645981	179645981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggtttgtttgttgtaactCactttgtatctttatgtaaa	8	20	7	6	1	2	0	1	0	1	0	2	0	2	0	1	1	1	6	1	1	5	9			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:179645981C>T	ENST00000589042.1	-	21	3614	c.3390G>A	c.(3388-3390)gtG>gtA	p.V1130V	TTN_ENST00000342992.6_Silent_p.V1130V|TTN_ENST00000342175.6_Silent_p.V1084V|TTN_ENST00000360870.5_Silent_p.V1130V|TTN_ENST00000591111.1_Silent_p.V1130V|TTN_ENST00000359218.5_Silent_p.V1084V|TTN_ENST00000460472.2_Silent_p.V1084V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1130	Ig-like 4.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTTGTAACTCACTTTGTATC	0.353													T	179645981	C	T	179645981	2	4	306	1	0	0	0	0	0	0	0	1	16837	813	29	2		2	TTN	2	179645981	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	210865	179645981	63553392	10	20836											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	306	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	29467131	209113112	34086261	11	20837											
TRIP12	9320	broad.mit.edu	37	chr2	230672968	230672968	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatttagcccaatctttacCaaatcagagatgtcagttca	14	13	5	9	0	4	1	3	0	1	1	4	2	4	1	2	0	2	1	2	0	5	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr2:230672968C>A	ENST00000283943.5	-	15	2373	c.2195G>T	c.(2194-2196)tGt>tTt	p.C732F	TRIP12_ENST00000389045.3_Splice_Site_p.C435F|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Splice_Site_p.C780F	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	732					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CAATCTTTACCAAATCAGAGA	0.488													A	230672968	C	A	230672968	5	1	306	1	0	0	0	0	0	0	1	0	16657	608	21	4	3891	4	TRIP12	2	230672968	Splice_Site	SNP	C	TCGA-DB-5274-01A-01D-1468-08	21559856	230672968	12526405	12	20838											
TBC1D23	55773	broad.mit.edu	37	chr3	99979910	99979910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaacgtcgagcggcgaCggctggtgagtgaaagccgg	8	5	17	11	6	0	2	0	2	0	0	1	4	0	2	2	4	4	1	2	4	2	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:99979910C>T	ENST00000394144.4	+	1	55	c.48C>T	c.(46-48)gaC>gaT	p.D16D	TBC1D23_ENST00000344949.5_Silent_p.D16D|TBC1D23_ENST00000486274.1_3'UTR	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	16						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						CGAGCGGCGACGGCTGGTGAG	0.597													T	99979910	C	T	99979910	2	4	306	1	0	0	0	0	0	0	0	1	15710	535	19	1		1	TBC1D23	3	99979910	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08		99979910	98042520	13	20839											
MYH15	22989	broad.mit.edu	37	chr3	108103610	108103612	+	In_Frame_Del	DEL	TTC	TTC	-																															gagtttgcatcctgctcagaTtcttcttgtcttcctctgcc																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108103610_108103612delTTC	ENST00000273353.3	-	40	5669_5671	c.5613_5615delGAA	c.(5611-5616)aagaat>aat	p.K1871del		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1871						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCTGCTCAGATTCTTCTTGTCTT	0.473													-	108103612	TTC	-	108103610	7	5	306	1	0	1	0	1	0	0	0	0	10110	1493	52	0	237	0	MYH15	3	108103610	In_Frame_Del	DEL	TTC	TCGA-DB-5274-01A-01D-1468-08	8123700	108103610	89918820	14	20840											
MYH15	22989	broad.mit.edu	37	chr3	108220660	108220660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcaatcatttcaaactctgGaggattcatctgctggattt	10	16	7	8	0	6	0	4	0	2	0	6	3	6	3	0	3	2	1	0	3	2	4			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:108220660G>T	ENST00000273353.3	-	4	354	c.298C>A	c.(298-300)Cca>Aca	p.P100T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	100	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCAAACTCTGGAGGATTCATC	0.443													T	108220660	G	T	108220660	3	4	306	1	0	0	0	0	1	0	0	0	10110	1174	41	4	5698	4	MYH15	3	108220660	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	117050	108220660	89801770	15	20841											
PARP14	54625	broad.mit.edu	37	chr3	122419983	122419983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagggcagactcctacCgggcaatgccaccatctcca	11	5	11	14	1	1	2	0	0	1	2	3	4	2	2	5	2	2	2	5	2	2	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:122419983C>A	ENST00000474629.2	+	6	2848	c.2582C>A	c.(2581-2583)cCg>cAg	p.P861Q		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	861	Macro 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		AGACTCCTACCGGGCAATGCC	0.617													A	122419983	C	A	122419983	3	1	306	1	0	0	0	0	1	0	0	0	11534	652	23	4	2604	4	PARP14	3	122419983	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14199323	122419983	75602447	16	20842											
STAG1	10274	broad.mit.edu	37	chr3	136117601	136117601	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttacttactttggaaggaGagccatcagtaattttcacc	11	14	7	9	0	3	1	2	0	1	1	3	3	3	2	2	2	3	1	2	2	4	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:136117601G>C	ENST00000383202.2	-	22	2523	c.2267C>G	c.(2266-2268)tCt>tGt	p.S756C	STAG1_ENST00000236698.5_Missense_Mutation_p.S756C|STAG1_ENST00000536929.1_Missense_Mutation_p.S340C|STAG1_ENST00000434713.2_Missense_Mutation_p.S530C	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	756					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.S756C(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTTGGAAGGAGAGCCATCAGT	0.313													C	136117601	G	C	136117601	3	2	306	1	0	0	0	0	1	0	0	0	15338	942	33	4	1561	4	STAG1	3	136117601	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	13697618	136117601	61904829	17	20843											
RBP1	5947	broad.mit.edu	37	chr3	139237308	139237308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggtccagccacgcccCtccttctcacccttctgcac	5	9	6	21	1	2	0	1	0	2	0	5	0	4	0	6	1	2	1	6	1	0	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr3:139237308C>T	ENST00000232219.2	-	3	605	c.495G>A	c.(493-495)gaG>gaA	p.E165E	RP11-319G6.1_ENST00000515247.1_RNA	NM_002899.3	NP_002890.2	P09455	RET1_HUMAN	retinol binding protein 1, cellular	103						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	AGCCACGCCCCTCCTTCTCAC	0.597													T	139237308	C	T	139237308	2	4	306	1	0	0	0	0	0	0	0	1	13243	680	24	2		2	RBP1	3	139237308	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	3119707	139237308	58785122	18	20844											
CSN3	1448	broad.mit.edu	37	chr4	71115076	71115076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctcctgccactgaacCaacggtggacagtgtagtca	11	7	10	13	1	1	1	1	1	0	0	2	2	2	2	4	2	4	2	4	2	3	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:71115076C>A	ENST00000304954.3	+	4	535	c.449C>A	c.(448-450)cCa>cAa	p.P150Q		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	150						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						GCCACTGAACCAACGGTGGAC	0.463													A	71115076	C	A	71115076	3	1	306	1	0	0	0	0	1	0	0	0	3982	594	21	4	459	4	CSN3	4	71115076	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		71115076	120039200	19	20845											
FAT4	79633	broad.mit.edu	37	chr4	126371851	126371851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgactctggaacaaatgCtgtgattgcgtatactgtac	10	13	10	8	1	1	2	0	2	1	0	1	3	1	3	0	1	6	4	0	1	5	4			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:126371851C>T	ENST00000394329.3	+	9	9693	c.9680C>T	c.(9679-9681)gCt>gTt	p.A3227V	FAT4_ENST00000335110.5_Missense_Mutation_p.A1525V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3227	Cadherin 31.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAACAAATGCTGTGATTGCG	0.428													T	126371851	C	T	126371851	3	4	306	1	0	0	0	0	1	0	0	0	5741	797	28	2	9714	2	FAT4	4	126371851	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	55256775	126371851	64782425	20	20846											
PCDH18	54510	broad.mit.edu	37	chr4	138442647	138442649	+	In_Frame_Del	DEL	TCT	TCT	-																															ctttccaaaggtggaaaaacTcttcttcttttcaccggaat																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr4:138442647_138442649delTCT	ENST00000344876.4	-	4	3328_3330	c.2942_2944delAGA	c.(2941-2946)aagagt>agt	p.K981del	PCDH18_ENST00000412923.2_In_Frame_Del_p.K980del|PCDH18_ENST00000511115.1_In_Frame_Del_p.K161del|PCDH18_ENST00000510305.1_In_Frame_Del_p.K192del|PCDH18_ENST00000507846.1_In_Frame_Del_p.K760del	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	981	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GTGGAAAAACTCTTCTTCTTTTC	0.512													-	138442649	TCT	-	138442647	7	5	306	1	0	1	0	1	0	0	0	0	11589	1551	54	0	467	0	PCDH18	4	138442647	In_Frame_Del	DEL	TCT	TCGA-DB-5274-01A-01D-1468-08	12070796	138442647	52711629	21	20847											
C6	729	broad.mit.edu	37	chr5	41149347	41149347	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccattggaacttacctgaAcatttttcccagtcatagca	12	12	5	12	0	1	1	1	1	0	0	2	2	2	2	3	1	4	1	3	1	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:41149347A>G	ENST00000263413.3	-	17	2883	c.2619T>C	c.(2617-2619)tgT>tgC	p.C873C	C6_ENST00000337836.5_Silent_p.C873C	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	873	C5b-binding domain.|Complement control factor I module 2.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTTACCTGAACATTTTTCCC	0.398													G	41149347	A	G	41149347	2	3	306	1	0	0	0	0	0	0	0	1	2337	41	2	3		3	C6	5	41149347	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08		41149347	139765913	22	20848											
MAST4	375449	broad.mit.edu	37	chr5	66441064	66441064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggctatttcaacagAgggagagcaagatgaagctg	15	7	12	7	0	1	4	1	1	0	3	1	5	1	4	0	2	4	3	0	2	5	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:66441064A>C	ENST00000404260.3	+	23	3268	c.2960A>C	c.(2959-2961)gAg>gCg	p.E987A	MAST4_ENST00000405643.1_Missense_Mutation_p.E805A|MAST4_ENST00000261569.7_Missense_Mutation_p.E790A|MAST4_ENST00000403666.1_Missense_Mutation_p.E795A|MAST4_ENST00000403625.2_Missense_Mutation_p.E984A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	987						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		ATTTCAACAGAGGGAGAGCAA	0.512													C	66441064	A	C	66441064	3	2	306	1	0	0	0	0	1	0	0	0	9402	304	11	5	3171	5	MAST4	5	66441064	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08	25291717	66441064	114474196	23	20849											
FEM1C	56929	broad.mit.edu	37	chr5	114860125	114860125	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtggtatgatttataggctgGattaaatttttagctatttc	10	19	9	3	0	0	1	0	1	0	0	1	2	0	2	0	3	1	3	0	3	7	10			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:114860125G>C	ENST00000274457.3	-	3	2295	c.1734C>G	c.(1732-1734)atC>atG	p.I578M		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	578						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTATAGGCTGGATTAAATTTT	0.368													C	114860125	G	C	114860125	3	2	306	1	0	0	0	0	1	0	0	0	5860	1164	41	4	123	4	FEM1C	5	114860125	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	48419061	114860125	66055135	24	20850											
TGFBI	7045	broad.mit.edu	37	chr5	135385198	135385198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacgcttttggccccgaCcaatgaggccttcgagaaga	10	8	11	12	3	0	3	0	1	0	2	1	5	0	3	4	2	1	2	4	2	3	4			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:135385198C>A	ENST00000442011.2	+	7	1003	c.842C>A	c.(841-843)aCc>aAc	p.T281N	TGFBI_ENST00000305126.8_Missense_Mutation_p.T281N	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	281	FAS1 2.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGGCCCCGACCAATGAGGCC	0.582													A	135385198	C	A	135385198	3	1	306	1	0	0	0	0	1	0	0	0	15920	507	18	4	868	4	TGFBI	5	135385198	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	20525073	135385198	45530062	25	20851											
ATP10B	23120	broad.mit.edu	37	chr5	160067534	160067534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgtctatattcatgcGccgctcaatcttgctgcgtt	8	14	9	10	3	4	1	2	0	2	1	4	2	4	1	1	0	3	3	1	0	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr5:160067534G>A	ENST00000327245.5	-	10	1780	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	312					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATATTCATGCGCCGCTCAATC	0.473													A	160067534	G	A	160067534	3	1	306	1	0	0	0	0	1	0	0	0	1122	1087	38	1	3519	1	ATP10B	5	160067534	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	24682336	160067534	20847726	26	20852											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713716	32713716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcacagaaggtgtttctgaGaccagcttcctctccaagag	10	10	10	11	0	3	3	1	1	2	3	5	4	4	3	3	1	1	2	3	1	2	2	rs35633399		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:32713716G>C	ENST00000374940.3	+	3	582	c.480G>C	c.(478-480)gaG>gaC	p.E160D		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	160	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTGTTTCTGAGACCAGCTTCC	0.493													C	32713716	G	C	32713716	3	2	306	1	0	0	0	0	1	0	0	0	7260	933	33	4	490	4	HLA-DQA2	6	32713716	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		32713716	138401351	27	20853											
RFX6	222546	broad.mit.edu	37	chr6	117198501	117198501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcctgcgccccaactgtcCccggggatccaggaagactg	8	5	12	16	2	0	1	0	0	0	1	2	3	2	3	6	3	3	0	6	3	2	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr6:117198501C>T	ENST00000332958.2	+	1	79	c.63C>T	c.(61-63)tcC>tcT	p.S21S		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	21					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CCCAACTGTCCCCGGGGATCC	0.687													T	117198501	C	T	117198501	2	4	306	1	0	0	0	0	0	0	0	1	13355	610	22	2		2	RFX6	6	117198501	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	84484785	117198501	53916566	28	20854											
HOXA4	3201	broad.mit.edu	37	chr7	27169089	27169089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggcgccgccgggtcaGgtatcgattgaagtggaact	8	8	16	9	5	1	1	1	1	0	0	2	4	1	2	2	4	2	1	2	4	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr7:27169089G>A	ENST00000360046.5	-	2	783	c.718C>T	c.(718-720)Ctg>Ttg	p.L240L	HOXA3_ENST00000521401.1_Intron|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS2_ENST00000521159.1_RNA|HOXA4_ENST00000428284.2_Silent_p.L240L	NM_002141.4	NP_002132.3	Q00056	HXA4_HUMAN	homeobox A4	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)	12						CGCCGGGTCAGGTATCGATTG	0.572													A	27169089	G	A	27169089	2	1	306	1	0	0	0	0	0	0	0	1	7349	991	35	2		2	HOXA4	7	27169089	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08		27169089	131969574	29	20855											
PABPC1	26986	broad.mit.edu	37	chr8	101733783	101733784	+	Frame_Shift_Ins	INS	-	-	T																															ccccacgtagagcgaggccaINStggggtagctgggggcactg																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:101733783_101733784insT	ENST00000318607.5	-	1	1156_1157	c.28_29insA	c.(28-30)atgfs	p.M10fs	PABPC1_ENST00000519004.1_Intron|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.M10fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	10					mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			GAGCGAGGCCATGGGGTAGCTG	0.698													T	101733784	-	T	101733783	7	5	306	1	0	1	1	0	0	0	0	0	11439	217	8	0	1937	0	PABPC1	8	101733783	Frame_Shift_Ins	INS	-	TCGA-DB-5274-01A-01D-1468-08		101733783	44630239	30	20856											
ENPP2	5168	broad.mit.edu	37	chr8	120608098	120608098	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacttactttgtcctgacGagtttccgcagcataatgat	11	14	7	9	2	0	2	0	2	0	0	2	3	2	2	2	0	3	3	2	0	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr8:120608098G>T	ENST00000259486.6	-	12	1166	c.1117C>A	c.(1117-1119)Cgt>Agt	p.R373S	ENPP2_ENST00000427067.2_Intron|ENPP2_ENST00000522826.1_Intron|ENPP2_ENST00000075322.6_Intron	NM_006209.4	NP_006200.3	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	324					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding	p.R373S(1)		breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TTGTCCTGACGAGTTTCCGCA	0.458													T	120608098	G	T	120608098	3	4	306	1	0	0	0	0	1	0	0	0	5171	1058	37	4	1769	4	ENPP2	8	120608098	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18874315	120608098	25755924	31	20857											
ACTL7B	10880	broad.mit.edu	37	chr9	111617665	111617665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggagtagatggacagcaaCgactgggacgtcacgtgcat	12	7	14	8	3	1	1	1	0	0	1	1	5	1	4	0	3	3	3	0	3	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:111617665C>T	ENST00000374667.3	-	1	1574	c.546G>A	c.(544-546)tcG>tcA	p.S182S		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	182						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TGGACAGCAACGACTGGGACG	0.647													T	111617665	C	T	111617665	2	4	306	1	0	0	0	0	0	0	0	1	201	523	19	1		1	ACTL7B	9	111617665	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08		111617665	29595766	32	20858											
ENG	2022	broad.mit.edu	37	chr9	130605420	130605420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacttcaaggatggcattggGggcctgagccacgcagccct	8	7	14	12	1	1	1	1	1	0	0	1	3	1	2	3	4	2	2	3	4	1	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr9:130605420G>T	ENST00000344849.3	-	2	452	c.172C>A	c.(172-174)Ccc>Acc	p.P58T	ENG_ENST00000373203.4_Missense_Mutation_p.P58T			P17813	EGLN_HUMAN	endoglin	58					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						ATGGCATTGGGGGCCTGAGCC	0.607									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				T	130605420	G	T	130605420	3	4	306	1	0	0	0	0	1	0	0	0	5158	1232	43	4	1886	4	ENG	9	130605420	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18987755	130605420	10608011	33	20859											
C10orf68	79741	broad.mit.edu	37	chr10	33134208	33134208	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagatgatactggaagAggtataataaagggatcaat	17	10	11	3	0	1	3	1	1	0	2	1	5	1	5	0	3	2	2	0	3	8	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:33134208A>G	ENST00000375028.3	+	13	1201	c.1131A>G	c.(1129-1131)agA>agG	p.R377R	C10orf68_ENST00000375025.4_Silent_p.R437R|C10orf68_ENST00000375030.2_Intron			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	373										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						ATACTGGAAGAGGTATAATAA	0.303													G	33134208	A	G	33134208	2	3	306	1	0	0	0	0	0	0	0	1	1624	319	11	3		3	C10orf68	10	33134208	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08		33134208	102400539	34	20860											
PYROXD2	84795	broad.mit.edu	37	chr10	100143599	100143599	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacatgtgctgcatttcGcccagcagctcccatcacac	8	8	8	17	1	1	0	1	0	0	0	3	0	2	0	3	1	4	4	3	1	0	1	rs148254477		TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr10:100143599G>A	ENST00000370575.4	-	16	1750	c.1702C>T	c.(1702-1704)Cga>Tga	p.R568*	PYROXD2_ENST00000483923.1_5'UTR	NM_032709.2	NP_116098.2	Q8N2H3	PYRD2_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 2	568							oxidoreductase activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	12						GCTGCATTTCGCCCAGCAGCT	0.567													A	100143599	G	A	100143599	4	1	306	1	0	0	0	0	0	1	0	0	12955	1095	38	1	47	1	PYROXD2	10	100143599	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	67009391	100143599	35391148	35	20861											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158870	18158870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcatcgtttcccttgtcGcgctgacaggaaacgcggtt	6	11	12	12	6	0	1	0	1	0	0	3	2	1	2	1	2	2	4	1	2	1	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:18158870G>A	ENST00000396275.2	+	3	482	c.121G>A	c.(121-123)Gcg>Acg	p.A41T		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TTCCCTTGTCGCGCTGACAGG	0.592													A	18158870	G	A	18158870	3	1	306	1	0	0	0	0	1	0	0	0	9844	1087	38	1	123	1	MRGPRX3	11	18158870	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		18158870	116847646	36	20862											
CD82	3732	broad.mit.edu	37	chr11	44621761	44621761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcctggccgacaagagCagtttcatctctgtcctgcg	7	11	11	12	2	2	1	1	0	1	1	5	3	4	2	3	2	2	2	3	2	1	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:44621761C>T	ENST00000227155.4	+	4	365	c.117C>T	c.(115-117)agC>agT	p.S39S	CD82_ENST00000342935.3_Silent_p.S39S	NM_002231.3	NP_002222.1	P27701	CD82_HUMAN	CD82 molecule	39						integral to plasma membrane	protein binding			large_intestine(1)|ovary(1)	2						CCGACAAGAGCAGTTTCATCT	0.602													T	44621761	C	T	44621761	2	4	306	1	0	0	0	0	0	0	0	1	3070	709	25	2		2	CD82	11	44621761	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	26462891	44621761	90384755	37	20863											
OR5L2	26338	broad.mit.edu	37	chr11	55594988	55594988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccttcctagggtgcatGgtgcaattctacttgttttg	6	17	9	9	0	2	0	0	0	2	0	4	0	3	0	2	2	3	3	2	2	3	7			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:55594988G>A	ENST00000378397.1	+	1	294	c.294G>A	c.(292-294)atG>atA	p.M98I		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				TAGGGTGCATGGTGCAATTCT	0.468										HNSCC(27;0.073)			A	55594988	G	A	55594988	3	1	306	1	0	0	0	0	1	0	0	0	11247	1348	47	2	296	2	OR5L2	11	55594988	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	10973227	55594988	79411528	38	20864											
OR5AN1	390195	broad.mit.edu	37	chr11	59132343	59132343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctattcatccatcatgTcacccaccctctgtgtttgg	6	15	6	14	0	5	0	3	0	2	0	6	0	6	0	3	1	1	2	3	1	1	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:59132343T>C	ENST00000313940.2	+	1	459	c.412T>C	c.(412-414)Tca>Cca	p.S138P		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						ATCCATCATGTCACCCACCCT	0.478													C	59132343	T	C	59132343	3	2	306	1	0	0	0	0	1	0	0	0	11219	1667	58	3	414	3	OR5AN1	11	59132343	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	3537355	59132343	75874173	39	20865											
IL10RA	3587	broad.mit.edu	37	chr11	117869741	117869741	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagacagcgggatctgcctGcaggagcccagcctgagccc	9	4	13	15	1	1	2	0	1	1	1	1	4	1	4	4	2	6	1	4	2	0	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:117869741G>T	ENST00000227752.3	+	7	1242	c.1122G>T	c.(1120-1122)ctG>ctT	p.L374L	IL10RA_ENST00000541785.1_Silent_p.L354L|IL10RA_ENST00000545409.1_Silent_p.L225L|IL10RA_ENST00000533700.1_3'UTR	NM_001558.3	NP_001549.2	Q13651	I10R1_HUMAN	interleukin 10 receptor, alpha	374						integral to membrane|plasma membrane	interleukin-10 receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(2)|prostate(1)	19	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.07e-05)|Epithelial(105;0.00108)		GGATCTGCCTGCAGGAGCCCA	0.627													T	117869741	G	T	117869741	2	4	306	1	0	0	0	0	0	0	0	1	7678	1306	46	4		4	IL10RA	11	117869741	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08	58737398	117869741	17136775	40	20866											
C11orf63	79864	broad.mit.edu	37	chr11	122805551	122805554	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															actctgggctgaatgttaatAaagaaagaggacacaaagac																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:122805551_122805554delAAAG	ENST00000227349.2	+	5	1699_1702	c.1402_1405delAAAG	c.(1402-1407)aaagaafs	p.KE468fs	C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	468										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGTTAATAAAGAAAGAGGACA	0.377													-	122805554	AAAG	-	122805551	7	5	306	1	0	1	0	1	0	0	0	0	1666	363	13	0	1480	0	C11orf63	11	122805551	Frame_Shift_Del	DEL	AAAG	TCGA-DB-5274-01A-01D-1468-08	4935810	122805551	12200965	41	20867											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278326	126278326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacccagacacactcctcGtcctggtagctttcaaggca	11	8	7	15	1	1	1	1	0	0	1	4	1	3	1	3	2	2	3	3	2	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr11:126278326G>A	ENST00000526727.1	+	7	936	c.562G>A	c.(562-564)Gtc>Atc	p.V188I	ST3GAL4_ENST00000392669.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.V184I|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.V194I|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.V184I|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.V177I|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.V188I|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.V187I|ST3GAL4_ENST00000526756.1_3'UTR|ST3GAL4_ENST00000444328.2_Missense_Mutation_p.V188I|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.V183I			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	188					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACACTCCTCGTCCTGGTAGC	0.547													A	126278326	G	A	126278326	3	1	306	1	0	0	0	0	1	0	0	0	15313	1145	40	1	576	1	ST3GAL4	11	126278326	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	3472775	126278326	8728190	42	20868											
C12orf36	283422	broad.mit.edu	37	chr12	13529264	13529264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatgaagtgtcttcatcagGaacacacagaaggtaaaagg	16	7	11	7	0	3	2	2	1	1	1	3	3	3	3	0	3	1	2	0	3	5	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:13529264G>A	ENST00000318426.2	-	2	293	c.76C>T	c.(76-78)Cct>Tct	p.P26S	C12orf36_ENST00000532841.1_Missense_Mutation_p.P26S|C12orf36_ENST00000539026.1_Missense_Mutation_p.P26S|C12orf36_ENST00000527705.2_Missense_Mutation_p.P26S|C12orf36_ENST00000531049.1_5'UTR					chromosome 12 open reading frame 36											lung(3)|skin(3)	6				BRCA - Breast invasive adenocarcinoma(232;0.198)		tcttcatcaggaacacacaga	0.463													A	13529264	G	A	13529264	3	1	306	1	0	0	0	0	1	0	0	0	1696	1174	41	2	348	2	C12orf36	12	13529264	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		13529264	120322631	43	20869											
ZBTB39	9880	broad.mit.edu	37	chr12	57397618	57397618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccacatggtcccgagcatGctgccggatcagttgaatgt	8	10	12	11	2	1	1	1	1	0	0	3	3	3	2	3	2	3	3	3	2	1	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:57397618G>T	ENST00000300101.2	-	2	1169	c.1084C>A	c.(1084-1086)Cat>Aat	p.H362N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TCCCGAGCATGCTGCCGGATC	0.547													T	57397618	G	T	57397618	3	4	306	1	0	0	0	0	1	0	0	0	17641	1319	46	4	1058	4	ZBTB39	12	57397618	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	43868354	57397618	76454277	44	20870											
POLR3B	55703	broad.mit.edu	37	chr12	106850924	106850924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcattttaggctttgggCgttgccttgtatataaaaat	9	18	9	5	1	1	0	1	0	0	0	1	0	1	0	1	2	1	4	1	2	6	9			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:106850924C>T	ENST00000228347.4	+	21	2524	c.2302C>T	c.(2302-2304)Cgt>Tgt	p.R768C	POLR3B_ENST00000539066.1_Missense_Mutation_p.R710C	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	768					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	p.R768C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						AGGCTTTGGGCGTTGCCTTGT	0.408													T	106850924	C	T	106850924	3	4	306	1	0	0	0	0	1	0	0	0	12306	768	27	1	2384	1	POLR3B	12	106850924	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	49453306	106850924	27000971	45	20871											
TMEM132B	114795	broad.mit.edu	37	chr12	125834834	125834834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagtccgggaaggggacacgGccacctttttggtctctctg	6	11	13	11	2	2	0	0	0	2	0	4	2	3	2	3	5	0	0	3	5	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr12:125834834G>A	ENST00000299308.3	+	2	897	c.889G>A	c.(889-891)Gcc>Acc	p.A297T		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	297						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGGGACACGGCCACCTTTTT	0.532													A	125834834	G	A	125834834	3	1	306	1	0	0	0	0	1	0	0	0	16146	1203	42	2	895	2	TMEM132B	12	125834834	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	18983910	125834834	8017061	46	20872											
FARP1	10160	broad.mit.edu	37	chr13	99083304	99083304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcctcccaagcacctggCggctcacctgtggaagcaca	8	7	11	15	1	1	0	1	0	0	0	2	1	2	1	4	3	3	4	4	3	2	1	rs61730891	byFrequency	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:99083304C>T	ENST00000376586.2	+	18	2249	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	FARP1_ENST00000595437.1_Missense_Mutation_p.A638V|FARP1_ENST00000319562.6_Missense_Mutation_p.A638V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	638	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAGCACCTGGCGGCTCACCTG	0.587													T	99083304	C	T	99083304	3	4	306	1	0	0	0	0	1	0	0	0	5725	768	27	1	2202	1	FARP1	13	99083304	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		99083304	16086574	47	20873											
MCF2L	23263	broad.mit.edu	37	chr13	113699625	113699625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcatcctggtgatagacCggcgacgggacaaatggacc	11	7	13	10	3	1	2	1	1	0	1	2	6	2	4	3	4	0	0	3	4	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr13:113699625C>T	ENST00000397030.1	+	4	455	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	MCF2L_ENST00000421756.1_Missense_Mutation_p.R111W|MCF2L_ENST00000423482.2_Missense_Mutation_p.R105W|MCF2L_ENST00000375597.4_Missense_Mutation_p.R105W|MCF2L_ENST00000397021.1_Missense_Mutation_p.R69W|MCF2L_ENST00000442652.2_Missense_Mutation_p.R137W|MCF2L_ENST00000480321.1_3'UTR|MCF2L_ENST00000375604.2_Missense_Mutation_p.R164W|MCF2L_ENST00000434480.2_Missense_Mutation_p.R113W|MCF2L_ENST00000375608.3_Missense_Mutation_p.R137W|MCF2L_ENST00000535094.2_Missense_Mutation_p.R107W|MCF2L_ENST00000375601.3_Missense_Mutation_p.R111W			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	137	CRAL-TRIO.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				GGTGATAGACCGGCGACGGGA	0.667													T	113699625	C	T	113699625	3	4	306	1	0	0	0	0	1	0	0	0	9454	643	23	1	599	1	MCF2L	13	113699625	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	14616321	113699625	1470253	48	20874											
NKX2-1	7080	broad.mit.edu	37	chr14	36987093	36987093	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtacacctgcgcctgcGagaagagcacccggcgcttc	7	6	12	16	5	0	2	0	0	0	2	2	3	0	2	3	1	4	4	3	1	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:36987093G>T	ENST00000518149.1	-	3	1111	c.506C>A	c.(505-507)tCg>tAg	p.S169*	NKX2-1_ENST00000522719.2_Nonsense_Mutation_p.S169*|NKX2-1_ENST00000498187.2_Nonsense_Mutation_p.S169*|NKX2-1_ENST00000354822.5_Nonsense_Mutation_p.S199*|RP11-896J10.3_ENST00000521945.1_RNA			P43699	NKX21_HUMAN	NK2 homeobox 1	169					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)		CTGCGCCTGCGAGAAGAGCAC	0.682			A		NSCLC								T	36987093	G	T	36987093	4	4	306	1	0	0	0	0	0	1	0	0	10525	1059	37	4	613	4	NKX2-1	14	36987093	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08		36987093	70362447	49	20875											
SLC38A6	145389	broad.mit.edu	37	chr14	61451520	61451520	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagtatgtgtattcagacAggtgagtaaaaatgttatgc	13	14	10	4	0	1	2	1	1	0	1	1	2	1	2	0	1	1	4	0	1	7	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:61451520A>G	ENST00000354886.2	+	3	473	c.309A>G	c.(307-309)acA>acG	p.T103T	SLC38A6_ENST00000267488.4_Splice_Site_p.T103T|SLC38A6_ENST00000554304.1_3'UTR|SLC38A6_ENST00000456840.2_Splice_Site_p.T80T	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	103					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		GTATTCAGACAGGTGAGTAAA	0.378													G	61451520	A	G	61451520	5	3	306	1	0	0	0	0	0	0	1	0	14702	202	7	3	319	3	SLC38A6	14	61451520	Splice_Site	SNP	A	TCGA-DB-5274-01A-01D-1468-08	24464427	61451520	45898020	50	20876											
ESR2	2100	broad.mit.edu	37	chr14	64699865	64699866	+	Frame_Shift_Del	DEL	TG	TG	-																															gggccaggcgtcactgagacTgtgggttctgggagccctct																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:64699865_64699866delTG	ENST00000341099.4	-	9	1999_2000	c.1582_1583delCA	c.(1582-1584)cagfs	p.Q528fs	ESR2_ENST00000554572.1_Intron|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000267525.6_Frame_Shift_Del_p.Q437fs|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron|ESR2_ENST00000555278.1_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	528	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TCACTGAGACTGTGGGTTCTGG	0.604													-	64699866	TG	-	64699865	7	5	306	1	0	1	0	1	0	0	0	0	5298	1580	55	0	99	0	ESR2	14	64699865	Frame_Shift_Del	DEL	TG	TCGA-DB-5274-01A-01D-1468-08	3248345	64699865	42649675	51	20877											
STON2	85439	broad.mit.edu	37	chr14	81744248	81744248	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttgaactcacggaatggTttttctaggccctgctcata	9	13	9	10	1	3	1	2	1	1	0	3	2	3	2	1	3	3	3	1	3	4	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:81744248T>G	ENST00000555447.1	-	6	1819	c.1407A>C	c.(1405-1407)aaA>aaC	p.K469N	STON2_ENST00000267540.2_Missense_Mutation_p.K469N	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	469	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CACGGAATGGTTTTTCTAGGC	0.478													G	81744248	T	G	81744248	3	3	306	1	0	0	0	0	1	0	0	0	15414	1722	60	5	1316	5	STON2	14	81744248	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	17044383	81744248	25605292	52	20878											
ATG2B	55102	broad.mit.edu	37	chr14	96757939	96757939	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataataaattcacttacccAtgtcgataggaaagcctctt	14	13	5	9	1	2	0	1	0	1	0	3	2	2	1	2	1	2	0	2	1	7	7			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr14:96757939A>G	ENST00000359933.4	-	38	6470	c.5577T>C	c.(5575-5577)caT>caC	p.H1859H	ATG2B_ENST00000261834.5_5'UTR	NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	1859										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TCACTTACCCATGTCGATAGG	0.348													G	96757939	A	G	96757939	2	3	306	1	0	0	0	0	0	0	0	1	1099	214	8	3		3	ATG2B	14	96757939	Silent	SNP	A	TCGA-DB-5274-01A-01D-1468-08	15013691	96757939	10591601	53	20879											
SH3GL3	6457	broad.mit.edu	37	chr15	84286924	84286924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggatttaaagaaggggAcatcattacattaaccaatc	17	11	7	6	0	1	1	1	0	0	1	2	3	1	3	1	3	2	0	1	3	7	5			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr15:84286924A>G	ENST00000324537.5	+	12	1445	c.953A>G	c.(952-954)gAc>gGc	p.D318G	SH3GL3_ENST00000564054.1_3'UTR|SH3GL3_ENST00000427482.2_Missense_Mutation_p.D310G|SH3GL3_ENST00000434347.1_Missense_Mutation_p.D318G|SH3GL3_ENST00000535412.1_3'UTR			Q99963	SH3G3_HUMAN	SH3-domain GRB2-like 3	310	SH3.				central nervous system development|endocytosis|signal transduction	early endosome membrane	identical protein binding|lipid binding			central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30						AAAGAAGGGGACATCATTACA	0.423													G	84286924	A	G	84286924	3	3	306	1	0	0	0	0	1	0	0	0	14346	275	10	3	963	3	SH3GL3	15	84286924	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08		84286924	18244468	54	20880											
SEC14L5	9717	broad.mit.edu	37	chr16	5061202	5061202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtggacgatgtcctgaCggctctgcacagccccgggc	5	7	16	13	3	1	1	0	1	1	0	2	3	2	2	3	4	2	2	3	4	0	0			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:5061202C>T	ENST00000251170.7	+	15	2087	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	RP11-165E7.1_ENST00000588778.1_RNA	NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	636	GOLD.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GATGTCCTGACGGCTCTGCAC	0.662													T	5061202	C	T	5061202	3	4	306	1	0	0	0	0	1	0	0	0	14078	536	19	1	1961	1	SEC14L5	16	5061202	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		5061202	85293551	55	20881											
PDXDC1	23042	broad.mit.edu	37	chr16	15110003	15110003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaacggcagcagtaggaCacacagacaagattgggaga	16	4	14	7	1	0	3	0	0	0	3	0	6	0	5	0	4	2	3	0	4	4	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr16:15110003C>A	ENST00000396410.4	+	9	842	c.745C>A	c.(745-747)Cac>Aac	p.H249N	PDXDC1_ENST00000563679.1_Missense_Mutation_p.H267N|PDXDC1_ENST00000325823.7_Missense_Mutation_p.H234N|PDXDC1_ENST00000569715.1_Missense_Mutation_p.H222N|PDXDC1_ENST00000450288.2_Missense_Mutation_p.H221N|PDXDC1_ENST00000447912.2_Missense_Mutation_p.H158N|PDXDC1_ENST00000535621.2_Missense_Mutation_p.H249N|PDXDC1_ENST00000455313.2_Missense_Mutation_p.H226N	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	249					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	AGCAGTAGGACACACAGACAA	0.448													A	15110003	C	A	15110003	3	1	306	1	0	0	0	0	1	0	0	0	11772	478	17	4	779	4	PDXDC1	16	15110003	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	10048801	15110003	75244750	56	20882											
SCN4A	6329	broad.mit.edu	37	chr17	62018859	62018859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttctccaggatgatggCgatgtacatgttgaccacga	11	10	12	8	2	1	2	0	2	1	0	2	6	1	3	2	2	1	3	2	2	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:62018859C>T	ENST00000578147.1	-	24	4859	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	SCN4A_ENST00000435607.1_Missense_Mutation_p.A1595T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1595					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGGATGATGGCGATGTACATG	0.517													T	62018859	C	T	62018859	3	4	306	1	0	0	0	0	1	0	0	0	14013	768	27	1	731	1	SCN4A	17	62018859	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		62018859	19176351	57	20883											
ABCA8	10351	broad.mit.edu	37	chr17	66887644	66887645	+	Frame_Shift_Ins	INS	-	-	G																															attaccttataatcatcgatINSgctgctcatggcaatgtaag																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr17:66887644_66887645insG	ENST00000269080.2	-	22	3146_3147	c.3009_3010insC	c.(3007-3012)agcatcfs	p.I1004fs	ABCA8_ENST00000586539.1_Frame_Shift_Ins_p.I1044fs|ABCA8_ENST00000430352.2_Frame_Shift_Ins_p.I1044fs	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1004						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TAATCATCGATGCTGCTCATGG	0.347													G	66887645	-	G	66887644	7	5	306	1	0	1	1	0	0	0	0	0	38	1464	51	0	1803	0	ABCA8	17	66887644	Frame_Shift_Ins	INS	-	TCGA-DB-5274-01A-01D-1468-08	4868785	66887644	14307566	58	20884											
CIC	23152	broad.mit.edu	37	chr19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-																															ggcatccccatcctgcagtcTgtaccctccgccccaccccc																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:42795593_42795594delTG	ENST00000572681.2	+	11	5468_5469	c.5400_5401delTG	c.(5398-5403)tctgtafs	p.V1801fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V892fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V892fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"Mis, F, S"		oligodendroglioma								-	42795594	TG	-	42795593	7	5	306	1	0	1	0	1	0	0	0	0	3454	1567	55	0	2711	0	CIC	19	42795593	Frame_Shift_Del	DEL	TG	TCGA-DB-5274-01A-01D-1468-08		42795593	16333390	59	20885											
NLRP13	126204	broad.mit.edu	37	chr19	56422063	56422063	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaacgtagagcaaatgctGttccatgcgtgcatcctgga	11	9	10	11	2	0	1	0	0	0	1	2	2	2	2	3	1	5	5	3	1	3	2	rs144412914	by1000genomes	TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr19:56422063G>C	ENST00000588751.1	-	6	2172	c.2148C>G	c.(2146-2148)aaC>aaG	p.N716K	NLRP13_ENST00000342929.3_Missense_Mutation_p.N716K			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	716							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		AGCAAATGCTGTTCCATGCGT	0.458													C	56422063	G	C	56422063	3	2	306	1	0	0	0	0	1	0	0	0	10551	1368	48	4	1005	4	NLRP13	19	56422063	Missense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	13626470	56422063	2706920	60	20886											
ZNF334	55713	broad.mit.edu	37	chr20	45130734	45130736	+	In_Frame_Del	DEL	AAG	AAG	-																															cattgagggcagattgacaaAagaaggttttctcacattca																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:45130734_45130736delAAG	ENST00000457685.2	-	6	2451_2453	c.1128_1130delCTT	c.(1126-1131)ttcttt>ttt	p.376_377FF>F	ZNF334_ENST00000593880.1_In_Frame_Del_p.437_438FF>F|ZNF334_ENST00000347606.4_In_Frame_Del_p.414_415FF>F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGATTGACAAAAGAAGGTTTTCT	0.424													-	45130736	AAG	-	45130734	7	5	306	1	0	1	0	1	0	0	0	0	17952	14	1	0	802	0	ZNF334	20	45130734	In_Frame_Del	DEL	AAG	TCGA-DB-5274-01A-01D-1468-08		45130734	17894786	61	20887											
PREX1	57580	broad.mit.edu	37	chr20	47305216	47305216	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagaaagcacttggggAcagtgctcagctttctccgg	9	9	12	11	1	2	1	1	0	1	1	3	2	2	2	2	3	4	3	2	3	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chr20:47305216A>G	ENST00000396220.1	-	10	1335	c.1313T>C	c.(1312-1314)gTc>gCc	p.V438A	PREX1_ENST00000371941.3_Missense_Mutation_p.V438A			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	438	DEP 1.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GCACTTGGGGACAGTGCTCAG	0.562													G	47305216	A	G	47305216	3	3	306	1	0	0	0	0	1	0	0	0	12562	275	10	3	3790	3	PREX1	20	47305216	Missense_Mutation	SNP	A	TCGA-DB-5274-01A-01D-1468-08	2174482	47305216	15720304	62	20888											
MXRA5	25878	broad.mit.edu	37	chrX	3228182	3228182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccattgtccagaagagaaaCgcgtcccagggtttgggggc	9	7	15	10	2	0	2	0	0	0	2	2	3	2	2	3	3	1	1	3	3	2	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:3228182C>T	ENST00000217939.6	-	7	8216	c.8062G>A	c.(8062-8064)Gtt>Att	p.V2688I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2688	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				AGAAGAGAAACGCGTCCCAGG	0.627													T	3228182	C	T	3228182	3	4	306	1	0	0	0	0	1	0	0	0	10079	536	19	1	428	1	MXRA5	23	3228182	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08		3228182	152042378	63	20889											
TLR7	51284	broad.mit.edu	37	chrX	12906720	12906720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcagtgtctaaagaaCgccctggccacagacaatca	12	8	9	12	1	3	2	1	0	2	2	3	2	3	2	2	2	1	1	2	2	4	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:12906720C>T	ENST00000380659.3	+	3	3232	c.3093C>T	c.(3091-3093)aaC>aaT	p.N1031N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1031	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GTCTAAAGAACGCCCTGGCCA	0.517													T	12906720	C	T	12906720	2	4	306	1	0	0	0	0	0	0	0	1	16056	535	19	1		1	TLR7	23	12906720	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	9678538	12906720	142363840	64	20890											
REPS2	9185	broad.mit.edu	37	chrX	17073015	17073015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgtggctcggaagaaCggctacccattgcctgaggg	8	9	13	11	2	1	2	1	1	0	1	2	3	1	3	2	4	3	2	2	4	3	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:17073015C>T	ENST00000357277.3	+	8	1227	c.1056C>T	c.(1054-1056)aaC>aaT	p.N352N	REPS2_ENST00000303843.7_Silent_p.N351N|REPS2_ENST00000380064.4_Silent_p.N212N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	352	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CTCGGAAGAACGGCTACCCAT	0.512													T	17073015	C	T	17073015	2	4	306	1	0	0	0	0	0	0	0	1	13317	535	19	1		1	REPS2	23	17073015	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	4166295	17073015	138197545	65	20891											
PTCHD1	139411	broad.mit.edu	37	chrX	23353202	23353202	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatcgagcgcaacctcgtTaacagcctcttcccggtcaa	11	8	8	14	4	2	1	1	0	1	1	5	2	3	1	3	1	4	2	3	1	4	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:23353202T>G	ENST00000379361.4	+	1	1070	c.210T>G	c.(208-210)gtT>gtG	p.V70V		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	70					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCAACCTCGTTAACAGCCTCT	0.657													G	23353202	T	G	23353202	2	3	306	1	0	0	0	0	0	0	0	1	12817	1741	61	5		5	PTCHD1	23	23353202	Silent	SNP	T	TCGA-DB-5274-01A-01D-1468-08	6280187	23353202	131917358	66	20892											
ZNF41	7592	broad.mit.edu	37	chrX	47307606	47307606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcagcacacatatagggTttttccccagtatgagtttt	10	15	7	9	0	1	1	1	1	0	0	2	1	2	1	2	1	1	4	2	1	3	8			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:47307606T>G	ENST00000377065.4	-	5	2202	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	ZNF41_ENST00000397050.2_Missense_Mutation_p.K531N|ZNF41_ENST00000313116.7_Missense_Mutation_p.K521N	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	563						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ACATATAGGGTTTTTCCCCAG	0.418													G	47307606	T	G	47307606	3	3	306	1	0	0	0	0	1	0	0	0	17990	1722	60	5	780	5	ZNF41	23	47307606	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	23954404	47307606	107962954	67	20893											
OGT	8473	broad.mit.edu	37	chrX	70756047	70756050	+	Frame_Shift_Del	DEL	TTCC	TTCC	-																															gaaccaacgaaacgtatgctTtccttccaagggttagctga																										TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:70756047_70756050delTTCC	ENST00000373719.3	+	2	274_277	c.57_60delTTCC	c.(55-60)ctttccfs	p.LS19fs	OGT_ENST00000373701.3_Intron|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	19					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AACGTATGCTTTCCTTCCAAGGGT	0.426													-	70756050	TTCC	-	70756047	7	5	306	1	0	1	0	1	0	0	0	0	10923	1828	64	0	63	0	OGT	23	70756047	Frame_Shift_Del	DEL	TTCC	TCGA-DB-5274-01A-01D-1468-08	23448441	70756047	84514513	68	20894											
GLUD2	2747	broad.mit.edu	37	chrX	120181766	120181766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagggcttcttcgatcgCggcgccagcatcgtggagga	6	8	17	10	5	1	0	0	0	1	0	4	4	1	3	1	5	1	2	1	5	0	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:120181766C>T	ENST00000328078.1	+	1	305	c.228C>T	c.(226-228)cgC>cgT	p.R76R		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	76					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCTTCGATCGCGGCGCCAGCA	0.647													T	120181766	C	T	120181766	2	4	306	1	0	0	0	0	0	0	0	1	6533	755	27	1		1	GLUD2	23	120181766	Silent	SNP	C	TCGA-DB-5274-01A-01D-1468-08	49425719	120181766	35088794	69	20895											
GRIA3	2892	broad.mit.edu	37	chrX	122561827	122561827	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgttggaggggtttggtGgttcttcaccctgatcataa	7	15	12	7	0	3	1	2	1	1	0	3	2	3	2	1	5	0	3	1	5	1	6			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:122561827G>A	ENST00000264357.5	+	12	2205	c.1913G>A	c.(1912-1914)tGg>tAg	p.W638*	GRIA3_ENST00000542149.1_Nonsense_Mutation_p.W638*|GRIA3_ENST00000371251.1_Nonsense_Mutation_p.W638*|GRIA3_ENST00000371256.5_Nonsense_Mutation_p.W638*	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	638					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGGGTTTGGTGGTTCTTCACC	0.443													A	122561827	G	A	122561827	4	1	306	1	0	0	0	0	0	1	0	0	6824	1357	47	2	1959	2	GRIA3	23	122561827	Nonsense_Mutation	SNP	G	TCGA-DB-5274-01A-01D-1468-08	2380061	122561827	32708733	70	20896											
MAGEC1	9947	broad.mit.edu	37	chrX	140996036	140996036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggctactttcctgtgaTcttcaggaaagcccgtgagt	8	11	11	11	2	2	2	1	2	1	0	3	3	3	3	2	2	2	1	2	2	2	3			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:140996036T>C	ENST00000285879.4	+	4	3132	c.2846T>C	c.(2845-2847)aTc>aCc	p.I949T	MAGEC1_ENST00000406005.2_Missense_Mutation_p.I16T	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	949	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCCTGTGATCTTCAGGAAA	0.463										HNSCC(15;0.026)			C	140996036	T	C	140996036	3	2	306	1	0	0	0	0	1	0	0	0	9255	1435	50	3	2852	3	MAGEC1	23	140996036	Missense_Mutation	SNP	T	TCGA-DB-5274-01A-01D-1468-08	18434209	140996036	14274524	71	20897											
SLITRK4	139065	broad.mit.edu	37	chrX	142717275	142717275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcacaacaatcccgtcGctcaacttctccacccacag	10	10	3	18	2	4	0	2	0	2	0	7	0	5	0	3	0	2	1	3	0	3	2			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:142717275G>A	ENST00000381779.4	-	2	1875	c.1650C>T	c.(1648-1650)agC>agT	p.S550S	SLITRK4_ENST00000356928.1_Silent_p.S550S|SLITRK4_ENST00000338017.4_Silent_p.S550S	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	550	LRRCT 2.					integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					CAATCCCGTCGCTCAACTTCT	0.438													A	142717275	G	A	142717275	2	1	306	1	0	0	0	0	0	0	0	1	14839	1078	38	1		1	SLITRK4	23	142717275	Silent	SNP	G	TCGA-DB-5274-01A-01D-1468-08	1721239	142717275	12553285	72	20898											
BGN	633	broad.mit.edu	37	chrX	152770259	152770259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacccggactctgtcacacCcacctacagcgccatgtgtc	8	7	9	17	2	2	0	1	0	1	0	3	2	2	2	4	2	2	0	4	2	1	1			TCGA-DB-5274-01A-01D-1468-08	TCGA-DB-5274-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ad0bc157-fb99-4b6c-80b7-384aac4304c0	f4361c01-824e-4b40-9f03-767a2796e586	g.chrX:152770259C>T	ENST00000331595.4	+	2	356	c.170C>T	c.(169-171)cCc>cTc	p.P57L	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	57						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCTGTCACACCCACCTACAGC	0.622													T	152770259	C	T	152770259	3	4	306	1	0	0	0	0	1	0	0	0	1424	623	22	2	172	2	BGN	23	152770259	Missense_Mutation	SNP	C	TCGA-DB-5274-01A-01D-1468-08	10052984	152770259	2500301	73	20899											
MTHFR	4524	broad.mit.edu	37	chr1	11854817	11854817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaactcgtcccactcctGggtacggtagatgtaactct	9	10	11	11	2	1	1	0	0	1	1	4	2	3	2	2	3	3	3	2	3	4	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:11854817G>T	ENST00000376592.1	-	6	1263	c.1135C>A	c.(1135-1137)Cag>Aag	p.Q379K	MTHFR_ENST00000376590.3_Missense_Mutation_p.Q379K|MTHFR_ENST00000376585.1_Missense_Mutation_p.Q420K|MTHFR_ENST00000376583.3_Missense_Mutation_p.Q420K			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	379					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TCCCACTCCTGGGTACGGTAG	0.582													T	11854817	G	T	11854817	3	4	307	1	0	0	0	0	1	0	0	0	10007	1357	47	4	859	4	MTHFR	1	11854817	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		11854817	237395804	1	20900											
ARID1A	8289	broad.mit.edu	37	chr1	27100207	27100207	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagcagcagcagcaaCggtgagtaaagcctggtctc	12	5	13	11	1	1	1	0	1	1	0	2	1	1	1	1	2	8	7	1	2	3	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:27100207C>T	ENST00000324856.7	+	16	4374	c.4003C>T	c.(4003-4005)Cga>Tga	p.R1335*	ARID1A_ENST00000374152.2_Splice_Site_p.R952*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000457599.2_Splice_Site_p.R1335*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1335	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1335*(2)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		gcagcagcaACGGTGAGTAAA	0.577			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27100207	C	T	27100207	5	4	307	1	0	0	0	0	0	0	1	0	916	550	19	1	4065	1	ARID1A	1	27100207	Splice_Site	SNP	C	TCGA-DB-5275-01A-01D-1468-08	15245390	27100207	222150414	2	20901											
PHC2	1912	broad.mit.edu	37	chr1	33797964	33797966	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcaggaacccctgtgcataCttcttcttgagattccccac																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:33797964_33797966delCTT	ENST00000257118.5	-	10	1851_1853	c.1798_1800delAAG	c.(1798-1800)aagdel	p.K600del	PHC2_ENST00000431992.1_In_Frame_Del_p.K571del|PHC2_ENST00000485928.1_5'UTR|PHC2_ENST00000373422.3_In_Frame_Del_p.K206del|PHC2_ENST00000373416.1_In_Frame_Del_p.K65del|PHC2_ENST00000419414.2_In_Frame_Del_p.K601del|PHC2_ENST00000373418.3_In_Frame_Del_p.K65del	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	600					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				CCTGTGCATACTTCTTCTTGAGA	0.581													-	33797966	CTT	-	33797964	7	5	307	1	0	1	0	1	0	0	0	0	11894	564	20	0	796	0	PHC2	1	33797964	In_Frame_Del	DEL	CTT	TCGA-DB-5275-01A-01D-1468-08	6697757	33797964	215452657	3	20902											
USP21	27005	broad.mit.edu	37	chr1	161132502	161132504	+	In_Frame_Del	DEL	CTT	CTT	-																															ttccagaaatatgttccctcCttctctggatacaggtggga																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:161132502_161132504delCTT	ENST00000368002.3	+	6	1256_1258	c.879_881delCTT	c.(877-882)tccttc>tcc	p.F294del	USP21_ENST00000368001.1_In_Frame_Del_p.F294del|USP21_ENST00000289865.8_In_Frame_Del_p.F294del	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	294					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			ATGTTCCCTCCTTCTCTGGATAC	0.557													-	161132504	CTT	-	161132502	7	5	307	1	0	1	0	1	0	0	0	0	17155	668	24	0	893	0	USP21	1	161132502	In_Frame_Del	DEL	CTT	TCGA-DB-5275-01A-01D-1468-08	127334538	161132502	88118119	4	20903											
DUSP27	92235	broad.mit.edu	37	chr1	167097454	167097454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtccacgtacaacgagaCctcaagttcccgagaggaga	13	5	11	12	3	1	3	1	0	0	3	3	6	3	3	3	2	2	2	3	2	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:167097454C>A	ENST00000361200.2	+	6	3252	c.3086C>A	c.(3085-3087)aCc>aAc	p.T1029N	DUSP27_ENST00000443333.1_Missense_Mutation_p.T1029N|DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.T1029N			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1029	Ser-rich.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TACAACGAGACCTCAAGTTCC	0.562													A	167097454	C	A	167097454	3	1	307	1	0	0	0	0	1	0	0	0	4863	507	18	4	3104	4	DUSP27	1	167097454	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5964952	167097454	82153167	5	20904											
KIFAP3	22920	broad.mit.edu	37	chr1	170003639	170003639	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatgaaattgagaaaagcTttaaagaagacattttaata	19	12	6	4	0	0	4	0	2	0	3	1	5	1	4	1	0	1	1	1	0	8	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:170003639T>A	ENST00000367765.1	-	7	1999		c.e7-2		KIFAP3_ENST00000361580.2_Splice_Site|KIFAP3_ENST00000538366.1_Splice_Site|KIFAP3_ENST00000367767.1_Splice_Site	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3						blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAGAAAAGCTTTAAAGAAGA	0.284													A	170003639	T	A	170003639	5	1	307	1	0	0	0	0	0	0	1	0	8369	1623	56	5	1818	5	KIFAP3	1	170003639	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	2906185	170003639	79246982	6	20905											
RGS13	6003	broad.mit.edu	37	chr1	192627429	192627429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctataagaaaattgcctcaCggtggagcagaatttctagg	13	10	10	8	1	2	2	1	0	1	2	2	3	2	3	2	3	2	1	2	3	6	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:192627429C>T	ENST00000391995.2	+	6	514	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RGS13_ENST00000482095.1_3'UTR|RGS13_ENST00000543215.1_Missense_Mutation_p.R76W	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	76	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						AATTGCCTCACGGTGGAGCAG	0.413													T	192627429	C	T	192627429	3	4	307	1	0	0	0	0	1	0	0	0	13385	527	19	1	236	1	RGS13	1	192627429	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	22623790	192627429	56623192	7	20906											
PTPRC	5788	broad.mit.edu	37	chr1	198677313	198677313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagttgaaaaagcagataCtactatttgtttaaaatgga	18	12	7	4	0	0	2	0	1	0	1	0	3	0	3	0	1	3	3	0	1	8	7			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr1:198677313C>T	ENST00000367376.2	+	10	1121	c.950C>T	c.(949-951)aCt>aTt	p.T317I	PTPRC_ENST00000594404.1_Missense_Mutation_p.T156I|PTPRC_ENST00000442510.2_Missense_Mutation_p.T319I|PTPRC_ENST00000348564.6_Missense_Mutation_p.T158I|PTPRC_ENST00000352140.3_Missense_Mutation_p.T269I	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	317					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AAAGCAGATACTACTATTTGT	0.294													T	198677313	C	T	198677313	3	4	307	1	0	0	0	0	1	0	0	0	12885	565	20	2	995	2	PTPRC	1	198677313	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	6049884	198677313	50573308	8	20907											
SULT1C3	442038	broad.mit.edu	37	chr2	108881449	108881449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaccactccatctcccctTttatgaggaaaggtagataa	12	11	8	10	0	1	2	0	1	1	1	3	4	2	4	4	3	0	1	4	3	4	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:108881449T>C	ENST00000329106.2	+	6	790	c.790T>C	c.(790-792)Ttt>Ctt	p.F264L		NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	264						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						CATCTCCCCTTTTATGAGGAA	0.408													C	108881449	T	C	108881449	3	2	307	1	0	0	0	0	1	0	0	0	15474	1841	64	3	812	3	SULT1C3	2	108881449	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08		108881449	134317924	9	20908											
SCN2A	6326	broad.mit.edu	37	chr2	166223805	166223805	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtggaatttgaggaaaaCatgctataagatagtggagc	14	10	13	4	0	0	2	0	1	0	1	0	5	0	5	0	4	3	1	0	4	6	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:166223805C>A	ENST00000357398.3	+	19	3889	c.3599C>A	c.(3598-3600)aCa>aAa	p.T1200K	SCN2A_ENST00000283256.6_Missense_Mutation_p.T1200K|SCN2A_ENST00000375427.2_Missense_Mutation_p.T1200K|SCN2A_ENST00000375437.2_Missense_Mutation_p.T1200K			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1200					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTGAGGAAAACATGCTATAAG	0.418													A	166223805	C	A	166223805	3	1	307	1	0	0	0	0	1	0	0	0	14009	478	17	4	3765	4	SCN2A	2	166223805	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	57342356	166223805	76975568	10	20909											
TTN	7273	broad.mit.edu	37	chr2	179422826	179422826	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaatctcatggttgccttAagggggacaccatctcttga	10	13	9	9	0	2	1	1	1	2	0	4	2	2	2	2	3	1	1	2	3	3	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:179422826A>G	ENST00000589042.1	-	328	87479	c.87255T>C	c.(87253-87255)ctT>ctC	p.L29085L	TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Silent_p.L26517L|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.L27444L|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.L20145L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Silent_p.L20212L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Silent_p.L20020L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27444	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTGCCTTAAGGGGGACAC	0.413													G	179422826	A	G	179422826	2	3	307	1	0	0	0	0	0	0	0	1	16837	349	13	3		3	TTN	2	179422826	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08	13199021	179422826	63776547	11	20910											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702143	187702143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actagtttgctagagtttttGaattcctccaaaatcagttt	11	17	6	7	0	1	2	1	1	0	1	3	2	3	2	2	0	1	4	2	0	5	7			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:187702143G>A	ENST00000295131.2	-	5	672	c.633C>T	c.(631-633)ttC>ttT	p.F211F		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	211					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TAGAGTTTTTGAATTCCTCCA	0.393													A	187702143	G	A	187702143	2	1	307	1	0	0	0	0	0	0	0	1	18338	1281	45	2		2	ZSWIM2	2	187702143	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08	8279317	187702143	55497230	12	20911											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	307	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	21410969	209113112	34086261	13	20912											
PER2	8864	broad.mit.edu	37	chr2	239185809	239185809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggttgtgttcagattttgCcatcatcaggctaaaggtat	9	15	11	6	0	3	1	3	0	0	1	3	1	3	1	1	3	1	4	1	3	3	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr2:239185809C>T	ENST00000254657.3	-	3	535	c.256G>A	c.(256-258)Gca>Aca	p.A86T	PER2_ENST00000355768.2_Missense_Mutation_p.A86T|PER2_ENST00000440245.1_Missense_Mutation_p.A86T|PER2_ENST00000254658.3_Missense_Mutation_p.A86T	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	86					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity	p.A86T(1)		NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCAGATTTTGCCATCATCAGG	0.383													T	239185809	C	T	239185809	3	4	307	1	0	0	0	0	1	0	0	0	11806	739	26	2	3595	2	PER2	2	239185809	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	30072697	239185809	4013564	14	20913											
SETD5	55209	broad.mit.edu	37	chr3	9476091	9476091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagacagcccgaactCtgaaggagaaactgtaccta	13	7	11	10	1	1	3	0	1	1	2	1	6	1	3	2	2	4	1	2	2	5	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:9476091C>A	ENST00000402198.1	+	5	686	c.251C>A	c.(250-252)tCt>tAt	p.S84Y	SETD5_ENST00000402466.1_5'UTR|SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000407969.1_Missense_Mutation_p.S103Y|SETD5_ENST00000406341.1_Missense_Mutation_p.S84Y	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN	SET domain containing 5	84										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		AGCCCGAACTCTGAAGGAGAA	0.532													A	9476091	C	A	9476091	3	1	307	1	0	0	0	0	1	0	0	0	14227	913	32	4	261	4	SETD5	3	9476091	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08		9476091	188546339	15	20914											
ARPP21	10777	broad.mit.edu	37	chr3	35758847	35758847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagaaaagacagctcttTcggttggtatggtttacttt	11	16	9	5	1	1	2	0	0	1	2	2	2	1	2	0	3	2	4	0	3	6	8			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:35758847T>C	ENST00000187397.4	+	13	1449	c.993T>C	c.(991-993)ttT>ttC	p.F331F	ARPP21_ENST00000417925.1_Silent_p.F297F|ARPP21_ENST00000444190.1_Intron|ARPP21_ENST00000337271.5_Intron|ARPP21_ENST00000458225.1_Silent_p.F297F	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	331						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GACAGCTCTTTCGGTTGGTAT	0.308													C	35758847	T	C	35758847	2	2	307	1	0	0	0	0	0	0	0	1	983	1780	62	3		3	ARPP21	3	35758847	Silent	SNP	T	TCGA-DB-5275-01A-01D-1468-08	26282756	35758847	162263583	16	20915											
DNAJB11	51726	broad.mit.edu	37	chr3	186302222	186302222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctttggttttctaggtaCatatttcccgggataagatc	8	16	8	9	1	1	1	0	0	1	1	4	2	3	2	2	3	1	2	2	3	4	8			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr3:186302222C>A	ENST00000439351.1	+	10	1785	c.856C>A	c.(856-858)Cat>Aat	p.H286N	DNAJB11_ENST00000265028.3_Missense_Mutation_p.H286N			Q9UBS4	DJB11_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 11	286					protein folding	endoplasmic reticulum lumen	heat shock protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|urinary_tract(2)	15	all_cancers(143;2.84e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.44e-20)	GBM - Glioblastoma multiforme(93;0.0476)		TTTCTAGGTACATATTTCCCG	0.468													A	186302222	C	A	186302222	3	1	307	1	0	0	0	0	1	0	0	0	4655	478	17	4	890	4	DNAJB11	3	186302222	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	150543375	186302222	11720208	17	20916											
SRP72	6731	broad.mit.edu	37	chr4	57340227	57340227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttattattcagttataccGtttggaacgctatgatgaat	12	17	7	5	2	1	2	1	2	0	0	1	3	1	3	1	1	2	3	1	1	7	8			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:57340227G>A	ENST00000342756.5	+	4	1083	c.362G>A	c.(361-363)cGt>cAt	p.R121H	SRP72_ENST00000510663.1_Missense_Mutation_p.R121H|SRP72_ENST00000504757.1_Missense_Mutation_p.R121H	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	121					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGTTATACCGTTTGGAACGC	0.353													A	57340227	G	A	57340227	3	1	307	1	0	0	0	0	1	0	0	0	15253	1145	40	1	376	1	SRP72	4	57340227	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		57340227	133814049	18	20917											
BBS12	166379	broad.mit.edu	37	chr4	123664857	123664857	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatacctttcaactctcctaTataacactgccaattactca	14	13	1	13	0	3	0	2	0	1	0	4	0	3	0	3	0	5	0	3	0	8	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr4:123664857T>C	ENST00000542236.1	+	3	2191	c.1810T>C	c.(1810-1812)Tat>Cat	p.Y604H	BBS12_ENST00000314218.3_Missense_Mutation_p.Y604H	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	604					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AACTCTCCTATATAACACTGC	0.408									Bardet-Biedl syndrome				C	123664857	T	C	123664857	3	2	307	1	0	0	0	0	1	0	0	0	1342	1406	49	3	1812	3	BBS12	4	123664857	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08	66324630	123664857	67489419	19	20918											
RAD50	10111	broad.mit.edu	37	chr5	131940537	131940537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcgtaagcttatacaggAccagcaggaacagattcaac	16	7	9	9	1	1	1	1	0	0	1	2	4	1	3	1	2	5	3	1	2	6	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr5:131940537A>G	ENST00000378823.3	+	16	2965	c.2147A>G	c.(2146-2148)gAc>gGc	p.D716G	RAD50_ENST00000265335.6_Missense_Mutation_p.D855G	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	855	Zinc-hook.				DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTATACAGGACCAGCAGGAA	0.333								Homologous recombination					G	131940537	A	G	131940537	3	3	307	1	0	0	0	0	1	0	0	0	13072	275	10	3	2626	3	RAD50	5	131940537	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08		131940537	48974723	20	20919											
DNAH8	1769	broad.mit.edu	37	chr6	38830127	38830127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcaggacctgctggcactgGcaaaacagaaaccacaaaag	16	3	10	12	1	0	1	0	0	0	1	0	2	0	2	2	3	3	4	2	3	5	0			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:38830127G>A	ENST00000359357.3	+	42	5806	c.5552G>A	c.(5551-5553)gGc>gAc	p.G1851D	DNAH8_ENST00000449981.2_Missense_Mutation_p.G2068D|DNAH8_ENST00000441566.1_Missense_Mutation_p.G1851D					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCTGGCACTGGCAAAACAGAA	0.463													A	38830127	G	A	38830127	3	1	307	1	0	0	0	0	1	0	0	0	4646	1203	42	2	5710	2	DNAH8	6	38830127	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		38830127	132284940	21	20920											
TPBG	7162	broad.mit.edu	37	chr6	83075717	83075717	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctggactgtgacccgAttcttcccccatccctgcaa	7	10	7	17	1	1	2	0	2	1	0	3	4	3	3	5	1	1	1	5	1	1	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:83075717A>G	ENST00000369750.3	+	2	1656	c.1039A>G	c.(1039-1041)Att>Gtt	p.I347V	TPBG_ENST00000535040.1_Missense_Mutation_p.I347V|TPBG_ENST00000543496.1_Missense_Mutation_p.I347V			Q13641	TPBG_HUMAN	trophoblast glycoprotein	347					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		CTGTGACCCGATTCTTCCCCC	0.507													G	83075717	A	G	83075717	3	3	307	1	0	0	0	0	1	0	0	0	16495	333	12	3	1041	3	TPBG	6	83075717	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	44245590	83075717	88039350	22	20921											
MCHR2	84539	broad.mit.edu	37	chr6	100382335	100382335	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataaaattaaaatatagcAcaccaaaatcaagggtagag	21	7	7	6	0	1	1	1	0	0	1	1	1	1	1	1	1	1	3	1	1	10	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr6:100382335A>G	ENST00000281806.2	-	5	960	c.646T>C	c.(646-648)Tgc>Cgc	p.C216R	MCHR2_ENST00000369212.2_Missense_Mutation_p.C216R	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	216						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		AAAATATAGCACACCAAAATC	0.323													G	100382335	A	G	100382335	3	3	307	1	0	0	0	0	1	0	0	0	9458	159	6	3	384	3	MCHR2	6	100382335	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	17306618	100382335	70732732	23	20922											
STK31	56164	broad.mit.edu	37	chr7	23768774	23768792	+	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	TTCCTTTGGAGCTGCAGTT	-																															tcgatctgatatagttgaaaTtcctttggagctgcagtttt																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:23768774_23768792delTTCCTTTGGAGCTGCAGTT	ENST00000354639.3	+	6	784_802	c.320_338delTTCCTTTGGAGCTGCAGTT	c.(319-339)attcctttggagctgcagtttfs	p.IPLELQF107fs	STK31_ENST00000428484.1_Frame_Shift_Del_p.IPLELQF107fs|STK31_ENST00000355870.3_Frame_Shift_Del_p.IPLELQF130fs|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Frame_Shift_Del_p.IPLELQF130fs	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	130	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATAGTTGAAATTCCTTTGGAGCTGCAGTTTTCTAGTGTT	0.356													-	23768792	TTCCTTTGGAGCTGCAGTT	-	23768774	7	5	307	1	0	1	0	1	0	0	0	0	15392	1493	52	0	411	0	STK31	7	23768774	Frame_Shift_Del	DEL	TTCCTTTGGAGCTGCAGTT	TCGA-DB-5275-01A-01D-1468-08		23768774	135369889	24	20923											
ANLN	54443	broad.mit.edu	37	chr7	36445820	36445820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagctcactcttctcacCaatgccatcagaggaaaagg	14	8	8	11	0	4	2	3	1	2	1	5	3	4	3	2	2	2	1	2	2	4	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:36445820C>A	ENST00000265748.2	+	4	739	c.518C>A	c.(517-519)cCa>cAa	p.P173Q	ANLN_ENST00000396068.2_Missense_Mutation_p.P173Q	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	173	Nuclear localization.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						CTCTTCTCACCAATGCCATCA	0.453													A	36445820	C	A	36445820	3	1	307	1	0	0	0	0	1	0	0	0	694	594	21	4	532	4	ANLN	7	36445820	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	12677046	36445820	122692843	25	20924											
ZNF277	11179	broad.mit.edu	37	chr7	111936282	111936284	+	Splice_Site	DEL	AGA	AGA	-																															tgttttcctaatctctcaacAgaagaacaagagaattattt																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:111936282_111936284delAGA	ENST00000361822.3	+	4	511_512	c.382_383delAGA	c.(382-384)aga>a	p.R128del	ZNF277_ENST00000450657.1_Splice_Site_p.R128del	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	128						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						ATCTCTCAACAGAAGAACAAGAG	0.3													-	111936284	AGA	-	111936282	8	5	307	1	0	1	0	1	0	0	1	0	17913	202	7	0	395	0	ZNF277	7	111936282	Splice_Site	DEL	AGA	TCGA-DB-5275-01A-01D-1468-08	75490462	111936282	47202381	26	20925											
UBN2	254048	broad.mit.edu	37	chr7	138982568	138982568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggacactaaattaccaCggaaatctcagtgactgccc	14	7	9	11	1	1	1	1	1	1	0	2	3	1	3	2	3	2	0	2	3	5	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr7:138982568C>T	ENST00000473989.3	+	18	4030	c.4030C>T	c.(4030-4032)Cgg>Tgg	p.R1344W	UBN2_ENST00000288561.8_Missense_Mutation_p.R1261W	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAAATTACCACGGAAATCTCA	0.418													T	138982568	C	T	138982568	3	4	307	1	0	0	0	0	1	0	0	0	16995	527	19	1	4100	1	UBN2	7	138982568	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	27046286	138982568	20156095	27	20926											
RECQL4	9401	broad.mit.edu	37	chr8	145740580	145740580	+	Frame_Shift_Del	DEL	T	T	-																															tcctgcccagggcgaaaggcTtggtgccccagctgctccag																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr8:145740580delT	ENST00000428558.2	-	8	1478	c.1437delA	c.(1435-1437)caafs	p.Q479fs	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	479					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GGCGAAAGGCTTGGTGCCCCA	0.637			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				-	145740580	T	-	145740580	7	5	307	1	0	1	0	1	0	0	0	0	13290	1606	56	0	2246	0	RECQL4	8	145740580	Frame_Shift_Del	DEL	T	TCGA-DB-5275-01A-01D-1468-08		145740580	623442	28	20927											
GLDC	2731	broad.mit.edu	37	chr9	6644691	6644691	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcgatcaattcatcaatgCtctaaaattaaaacgcaagg	16	11	5	9	2	5	0	3	0	2	0	6	1	5	0	0	1	2	2	0	1	7	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:6644691C>T	ENST00000321612.6	-	2	407	c.257G>A	c.(256-258)aGc>aAc	p.S86N		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	86					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	TTCATCAATGCTCTAAAATTA	0.463													T	6644691	C	T	6644691	5	4	307	1	0	0	0	0	0	0	1	0	6489	811	28	2	2901	2	GLDC	9	6644691	Splice_Site	SNP	C	TCGA-DB-5275-01A-01D-1468-08		6644691	134568740	29	20928											
ABCA1	19	broad.mit.edu	37	chr9	107593303	107593303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattgcctgctccaccaCatcctgcaagtaggcgaagc	10	8	10	13	1	0	1	0	1	0	0	2	3	2	1	4	1	4	3	4	1	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr9:107593303C>A	ENST00000374736.3	-	14	2189	c.1795G>T	c.(1795-1797)Gtg>Ttg	p.V599L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	599					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TGCTCCACCACATCCTGCAAG	0.537													A	107593303	C	A	107593303	3	1	307	1	0	0	0	0	1	0	0	0	28	478	17	4	5138	4	ABCA1	9	107593303	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	100948612	107593303	33620128	30	20929											
API5	8539	broad.mit.edu	37	chr11	43348086	43348087	+	Frame_Shift_Del	DEL	AT	AT	-																															cattccacaaggtttgtgacAtatttctgtgagcaggttct																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:43348086_43348087delAT	ENST00000378852.3	+	7	905_906	c.780_781delAT	c.(778-783)acatatfs	p.Y261fs	API5_ENST00000534600.1_Frame_Shift_Del_p.Y261fs|API5_ENST00000531273.1_Frame_Shift_Del_p.Y261fs|API5_ENST00000534695.1_Intron|API5_ENST00000420461.2_Frame_Shift_Del_p.Y207fs|API5_ENST00000455725.2_Frame_Shift_Del_p.Y250fs	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	261					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						GGTTTGTGACATATTTCTGTGA	0.376													-	43348087	AT	-	43348086	7	5	307	1	0	1	0	1	0	0	0	0	775	204	8	0	806	0	API5	11	43348086	Frame_Shift_Del	DEL	AT	TCGA-DB-5275-01A-01D-1468-08		43348086	91658430	31	20930											
TCIRG1	10312	broad.mit.edu	37	chr11	67815190	67815192	+	In_Frame_Del	DEL	ACA	ACA	-																															catctacaccggcttcatctAcaacgagtgcttcagtcgcg																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:67815190_67815192delACA	ENST00000265686.3	+	12	1490_1492	c.1382_1384delACA	c.(1381-1386)tacaac>tac	p.N462del	TCIRG1_ENST00000532635.1_In_Frame_Del_p.N246del	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	462			Missing (in OPTB1).		ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						GGCTTCATCTACAACGAGTGCTT	0.64													-	67815192	ACA	-	67815190	7	5	307	1	0	1	0	1	0	0	0	0	15803	391	14	0	1424	0	TCIRG1	11	67815190	In_Frame_Del	DEL	ACA	TCGA-DB-5275-01A-01D-1468-08	24467104	67815190	67191326	32	20931											
GRAMD1B	57476	broad.mit.edu	37	chr11	123476150	123476153	+	Frame_Shift_Del	DEL	ACTA	ACTA	-																															aaatccatcaccaacagcacActaacatccacagggagcag																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr11:123476150_123476153delACTA	ENST00000529750.1	+	9	1185_1188	c.858_861delACTA	c.(856-861)acactafs	p.TL286fs	GRAMD1B_ENST00000322282.7_Frame_Shift_Del_p.TL286fs|GRAMD1B_ENST00000456860.2_Frame_Shift_Del_p.TL293fs	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	286						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		CCAACAGCACACTAACATCCACAG	0.534													-	123476153	ACTA	-	123476150	7	5	307	1	0	1	0	1	0	0	0	0	6803	146	6	0	892	0	GRAMD1B	11	123476150	Frame_Shift_Del	DEL	ACTA	TCGA-DB-5275-01A-01D-1468-08	55660960	123476150	11530366	33	20932											
ANO2	57101	broad.mit.edu	37	chr12	5860068	5860068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactccaattacagaagatGggatgaggaatgatgtatat	15	11	10	5	0	1	4	1	2	0	2	2	6	2	6	1	2	1	1	1	2	6	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:5860068G>A	ENST00000546188.1	-	11	1186	c.1115C>T	c.(1114-1116)cCa>cTa	p.P372L	ANO2_ENST00000356134.5_Missense_Mutation_p.P372L|ANO2_ENST00000327087.8_Missense_Mutation_p.P371L			Q9NQ90	ANO2_HUMAN	anoctamin 2	376						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TACAGAAGATGGGATGAGGAA	0.348													A	5860068	G	A	5860068	3	1	307	1	0	0	0	0	1	0	0	0	697	1348	47	2	1948	2	ANO2	12	5860068	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		5860068	127991827	34	20933											
CD163L1	283316	broad.mit.edu	37	chr12	7586027	7586027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttatggcttccccattcccGgtgttgacattcccagagag	7	12	10	12	1	0	2	0	1	0	1	3	3	3	2	4	2	0	3	4	2	1	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:7586027G>A	ENST00000313599.3	-	3	445	c.388C>T	c.(388-390)Cgg>Tgg	p.R130W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R130W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R130W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	130	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCATTCCCGGTGTTGACAT	0.438													A	7586027	G	A	7586027	3	1	307	1	0	0	0	0	1	0	0	0	2998	1115	39	1	4041	1	CD163L1	12	7586027	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1725959	7586027	126265868	35	20934											
STAT6	6778	broad.mit.edu	37	chr12	57493169	57493169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattcggtcccccagtgagCgaatggacaggtctttggca	8	9	14	10	2	1	1	0	1	1	0	3	4	2	3	2	5	1	1	2	5	1	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:57493169C>A	ENST00000300134.3	-	16	2124	c.1799G>T	c.(1798-1800)cGc>cTc	p.R600L	STAT6_ENST00000537215.2_Missense_Mutation_p.R490L|STAT6_ENST00000543873.2_Missense_Mutation_p.R600L|STAT6_ENST00000454075.3_Missense_Mutation_p.R600L|STAT6_ENST00000556155.1_Missense_Mutation_p.R600L|STAT6_ENST00000538913.2_Missense_Mutation_p.R490L	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	600	SH2.				regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						CCCCAGTGAGCGAATGGACAG	0.532													A	57493169	C	A	57493169	3	1	307	1	0	0	0	0	1	0	0	0	15366	768	27	4	772	4	STAT6	12	57493169	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	49907142	57493169	76358726	36	20935											
TBK1	29110	broad.mit.edu	37	chr12	64891776	64891776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaggaagagatggaaGgggtggttaaagaacttgct	16	9	14	2	0	0	2	0	0	0	2	0	5	0	4	0	5	2	2	0	5	8	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:64891776G>A	ENST00000331710.5	+	20	2434	c.2095G>A	c.(2095-2097)Ggg>Agg	p.G699R		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	699					I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AGAGATGGAAGGGGTGGTTAA	0.299													A	64891776	G	A	64891776	3	1	307	1	0	0	0	0	1	0	0	0	15737	1000	35	2	2169	2	TBK1	12	64891776	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	7398607	64891776	68960119	37	20936											
NUP37	79023	broad.mit.edu	37	chr12	102471196	102471196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgctgacattaatggcActtgttctgattcaagagat	11	14	10	6	0	2	3	1	2	1	1	2	4	2	3	0	1	1	3	0	1	2	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:102471196A>C	ENST00000552283.1	-	7	765	c.626T>G	c.(625-627)gTg>gGg	p.V209G	NUP37_ENST00000251074.1_Missense_Mutation_p.V209G			Q8NFH4	NUP37_HUMAN	nucleoporin 37kDa	209					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			endometrium(3)|large_intestine(3)|lung(10)|ovary(1)	17						CATTAATGGCACTTGTTCTGA	0.403													C	102471196	A	C	102471196	3	2	307	1	0	0	0	0	1	0	0	0	10840	159	6	5	370	5	NUP37	12	102471196	Missense_Mutation	SNP	A	TCGA-DB-5275-01A-01D-1468-08	37579420	102471196	31380699	38	20937											
NOS1	4842	broad.mit.edu	37	chr12	117768410	117768410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgctgaggcccattcccGggacccgaggccccatccac	7	5	11	18	2	0	1	0	1	0	0	2	3	2	2	6	3	1	2	6	3	0	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:117768410G>A	ENST00000317775.6	-	2	1150	c.465C>T	c.(463-465)ccC>ccT	p.P155P	NOS1_ENST00000338101.4_Silent_p.P155P|NOS1_ENST00000344089.3_Silent_p.P155P	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	155	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATTCCCGGGACCCGAGG	0.701													A	117768410	G	A	117768410	2	1	307	1	0	0	0	0	0	0	0	1	10617	1103	39	1		1	NOS1	12	117768410	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08	15297214	117768410	16083485	39	20938											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958070	122958070	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggcctttttgtttttctGctggtttcggggtgagttct	3	19	13	6	1	2	2	0	1	2	1	3	2	2	2	1	4	1	4	1	4	0	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:122958070G>C	ENST00000543897.1	-	12	3739	c.1384C>G	c.(1384-1386)Cag>Gag	p.Q462E	ZCCHC8_ENST00000536306.1_Missense_Mutation_p.Q462E|ZCCHC8_ENST00000538116.1_Missense_Mutation_p.Q311E|ZCCHC8_ENST00000336229.4_Missense_Mutation_p.Q700E			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	700						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTGTTTTTCTGCTGGTTTCGG	0.373													C	122958070	G	C	122958070	3	2	307	1	0	0	0	0	1	0	0	0	17695	1328	46	4	29	4	ZCCHC8	12	122958070	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	5189660	122958070	10893825	40	20939											
DNAH10	196385	broad.mit.edu	37	chr12	124401043	124401043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacttcctcaagcagctaGagatgtccataaagtacggg	12	9	10	10	1	1	2	1	1	0	1	3	3	3	2	2	1	3	3	2	1	5	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr12:124401043G>A	ENST00000409039.3	+	62	10433	c.10408G>A	c.(10408-10410)Gag>Aag	p.E3470K		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3470	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAAGCAGCTAGAGATGTCCAT	0.453													A	124401043	G	A	124401043	3	1	307	1	0	0	0	0	1	0	0	0	4637	943	33	2	10654	2	DNAH10	12	124401043	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1442973	124401043	9450852	41	20940											
PARP2	10038	broad.mit.edu	37	chr14	20818733	20818733	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatctgattcagctattaGaagatgatgcccagaggaac	14	10	9	8	0	2	5	1	2	1	3	2	6	2	6	1	1	3	1	1	1	5	4			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr14:20818733G>T	ENST00000527915.1	+	5	417	c.412G>T	c.(412-414)Gaa>Taa	p.E138*	PARP2_ENST00000429687.3_Nonsense_Mutation_p.E125*|PARP2_ENST00000250416.5_Nonsense_Mutation_p.E138*			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	138					protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		TCAGCTATTAGAAGATGATGC	0.368								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					T	20818733	G	T	20818733	4	4	307	1	0	0	0	0	0	1	0	0	11537	943	33	4	430	4	PARP2	14	20818733	Nonsense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		20818733	86530807	42	20941											
MAGEL2	54551	broad.mit.edu	37	chr15	23890478	23890478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcagcagaggggcctttAaaggcattcagagaggcagg	12	5	17	7	0	1	2	1	0	0	2	1	4	1	2	1	6	1	4	1	6	2	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:23890478A>G	ENST00000532292.1	-	1	697	c.603T>C	c.(601-603)ttT>ttC	p.F201F		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AGGGGCCTTTAAAGGCATTCA	0.577													G	23890478	A	G	23890478	2	3	307	1	0	0	0	0	0	0	0	1	9264	359	13	3		3	MAGEL2	15	23890478	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08		23890478	78640914	43	20942											
APBA2	321	broad.mit.edu	37	chr15	29390775	29390775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggttttaaatgcagacaCgcaggtaagcgtttaagaca	15	9	10	7	2	0	2	0	0	0	2	0	2	0	2	0	2	2	5	0	2	5	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:29390775C>T	ENST00000558402.1	+	10	1933	c.1334C>T	c.(1333-1335)aCg>aTg	p.T445M	APBA2_ENST00000558330.1_Missense_Mutation_p.T433M|APBA2_ENST00000561069.1_Missense_Mutation_p.T445M|APBA2_ENST00000558259.1_Missense_Mutation_p.T445M|APBA2_ENST00000411764.1_Missense_Mutation_p.T433M			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	445	PID.				nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AATGCAGACACGCAGGTAAGC	0.478													T	29390775	C	T	29390775	3	4	307	1	0	0	0	0	1	0	0	0	759	536	19	1	1356	1	APBA2	15	29390775	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5500297	29390775	73140617	44	20943											
SLC30A4	7782	broad.mit.edu	37	chr15	45777517	45777517	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgaacttccaggaacTgcaatgtcaagaaaatatca	17	10	7	7	0	2	3	2	1	0	2	3	4	3	4	1	1	3	1	1	1	8	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:45777517T>A	ENST00000261867.4	-	8	1450		c.e8-2		RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4						regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity			endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TTCCAGGAACTGCAATGTCAA	0.318													A	45777517	T	A	45777517	5	1	307	1	0	0	0	0	0	0	1	0	14651	1594	55	5	159	5	SLC30A4	15	45777517	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	16386742	45777517	56753875	45	20944											
FBN1	2200	broad.mit.edu	37	chr15	48795985	48795985	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgataccacataccTgaattctgtgcaggacacgg	11	10	8	12	1	2	2	0	2	2	0	3	3	2	3	3	2	3	1	3	2	3	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:48795985T>C	ENST00000316623.5	-	17	2567	c.2112A>G	c.(2110-2112)tcA>tcG	p.S704S		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	704	TB 3.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACCACATACCTGAATTCTGTG	0.483													C	48795985	T	C	48795985	5	2	307	1	0	0	0	0	0	0	1	0	5751	1594	55	3	6703	3	FBN1	15	48795985	Splice_Site	SNP	T	TCGA-DB-5275-01A-01D-1468-08	3018468	48795985	53735407	46	20945											
VPS13C	54832	broad.mit.edu	37	chr15	62302717	62302717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattttgtatttctatgttgCaatccagtttgggcgttttg	6	21	9	5	1	1	0	0	0	1	0	2	0	2	0	1	1	1	5	1	1	4	10			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr15:62302717C>A	ENST00000261517.5	-	13	1038	c.965G>T	c.(964-966)tGc>tTc	p.C322F	VPS13C_ENST00000395896.4_Missense_Mutation_p.C322F|VPS13C_ENST00000249837.3_Missense_Mutation_p.C279F|VPS13C_ENST00000395898.3_Missense_Mutation_p.C279F	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	322					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTATGTTGCAATCCAGTTT	0.393													A	62302717	C	A	62302717	3	1	307	1	0	0	0	0	1	0	0	0	17293	710	25	4	10616	4	VPS13C	15	62302717	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	13506732	62302717	40228675	47	20946											
PRSS54	221191	broad.mit.edu	37	chr16	58324919	58324919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcgctcaggatgcagccGaaagccaggtgtgtgtactg	10	8	13	10	2	1	0	1	0	0	0	2	2	1	1	2	2	5	3	2	2	3	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:58324919G>A	ENST00000219301.4	-	4	601	c.207C>T	c.(205-207)ttC>ttT	p.F69F	PRSS54_ENST00000567164.1_Silent_p.F69F|PRSS54_ENST00000543437.1_Intron	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	69	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GGATGCAGCCGAAAGCCAGGT	0.627													A	58324919	G	A	58324919	2	1	307	1	0	0	0	0	0	0	0	1	12718	1049	37	1		1	PRSS54	16	58324919	Silent	SNP	G	TCGA-DB-5275-01A-01D-1468-08		58324919	32029834	48	20947											
ZFHX3	463	broad.mit.edu	37	chr16	72821213	72821213	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagtcgtctgttggcatCgagggctgaacccctgaggt	8	10	14	9	2	1	2	0	2	1	0	3	4	1	2	2	3	1	3	2	3	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr16:72821213C>A	ENST00000268489.5	-	10	11634	c.10962G>T	c.(10960-10962)tcG>tcT	p.S3654S	ZFHX3_ENST00000397992.5_Silent_p.S2740S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3654					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTGGCATCGAGGGCTGAA	0.602													A	72821213	C	A	72821213	2	1	307	1	0	0	0	0	0	0	0	1	17735	871	31	4		4	ZFHX3	16	72821213	Silent	SNP	C	TCGA-DB-5275-01A-01D-1468-08	14496294	72821213	17533540	49	20948											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	5	10	16	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:7577532G>A	ENST00000420246.2	-	7	881	c.749C>T	c.(748-750)cCc>cTc	p.P250L	TP53_ENST00000413465.2_Missense_Mutation_p.P250L|TP53_ENST00000455263.2_Missense_Mutation_p.P250L|TP53_ENST00000359597.4_Missense_Mutation_p.P250L|TP53_ENST00000269305.4_Missense_Mutation_p.P250L|TP53_ENST00000445888.2_Missense_Mutation_p.P250L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			A	7577532	G	A	7577532	3	1	307	1	0	0	0	0	1	0	0	0	16482	1232	43	2	541	2	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		7577532	73617678	50	20949											
SPOP	8405	broad.mit.edu	37	chr17	47688719	47688719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaccgggaattctccCacagtcctcctaactcatct	9	11	6	15	1	3	1	1	1	2	0	6	2	5	2	4	1	2	0	4	1	3	2			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr17:47688719C>A	ENST00000393331.3	-	8	1051	c.581G>T	c.(580-582)tGg>tTg	p.W194L	SPOP_ENST00000503676.1_Missense_Mutation_p.W194L|SPOP_ENST00000504102.1_Missense_Mutation_p.W194L|SPOP_ENST00000393328.2_Missense_Mutation_p.W194L|SPOP_ENST00000347630.2_Missense_Mutation_p.W194L	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	194	BTB.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GGAATTCTCCCACAGTCCTCC	0.488										Prostate(2;0.17)			A	47688719	C	A	47688719	3	1	307	1	0	0	0	0	1	0	0	0	15180	595	21	4	563	4	SPOP	17	47688719	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	40111187	47688719	33506491	51	20950											
SLC39A6	25800	broad.mit.edu	37	chr18	33706819	33706819	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtagatgatattgccgtgtgGaaattgccaagtcaacatta	13	12	10	6	1	1	2	1	1	0	1	1	3	1	3	2	1	3	1	2	1	6	5			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr18:33706819G>C	ENST00000269187.5	-	2	365	c.152C>G	c.(151-153)tCc>tGc	p.S51C	SLC39A6_ENST00000440549.2_Intron|SLC39A6_ENST00000590986.1_Missense_Mutation_p.S51C	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	51						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						TTGCCGTGTGGAAATTGCCAA	0.388													C	33706819	G	C	33706819	3	2	307	1	0	0	0	0	1	0	0	0	14716	1174	41	4	2163	4	SLC39A6	18	33706819	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08		33706819	44370429	52	20951											
MUC16	94025	broad.mit.edu	37	chr19	9069716	9069716	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgccatgacacgcccttAgtacttctgctcatagtagt	8	14	7	12	1	2	1	1	1	1	0	2	1	2	1	2	0	3	3	2	0	4	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:9069716A>C	ENST00000397910.4	-	3	17933	c.17730T>G	c.(17728-17730)acT>acG	p.T5910T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5912	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						ACACGCCCTTAGTACTTCTGC	0.498													C	9069716	A	C	9069716	2	2	307	1	0	0	0	0	0	0	0	1	10049	407	15	5		5	MUC16	19	9069716	Silent	SNP	A	TCGA-DB-5275-01A-01D-1468-08		9069716	50059267	53	20952											
RDH8	50700	broad.mit.edu	37	chr19	10127828	10127828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtggcccagctggacGtgtgcagtgatgagtcggtg	6	9	16	10	3	1	2	1	2	0	0	2	3	1	3	2	3	2	2	2	3	0	0			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:10127828G>A	ENST00000591589.1	+	2	448	c.259G>A	c.(259-261)Gtg>Atg	p.V87M	RDH8_ENST00000171214.1_Missense_Mutation_p.V67M			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	67					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	CCAGCTGGACGTGTGCAGTGA	0.627													A	10127828	G	A	10127828	3	1	307	1	0	0	0	0	1	0	0	0	13284	1145	40	1	205	1	RDH8	19	10127828	Missense_Mutation	SNP	G	TCGA-DB-5275-01A-01D-1468-08	1058112	10127828	49001155	54	20953											
ILVBL	10994	broad.mit.edu	37	chr19	15228815	15228815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccataggataggcggaagtCacacacagttcctggtgtgg	10	8	14	9	1	1	0	1	0	0	0	2	2	2	2	2	5	0	1	2	5	3	3			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr19:15228815C>G	ENST00000263383.3	-	10	1202	c.1063G>C	c.(1063-1065)Gac>Cac	p.D355H	ILVBL_ENST00000534378.1_Missense_Mutation_p.D248H	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	355						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGCGGAAGTCACACACAGTT	0.522													G	15228815	C	G	15228815	3	3	307	1	0	0	0	0	1	0	0	0	7773	826	29	4	863	4	ILVBL	19	15228815	Missense_Mutation	SNP	C	TCGA-DB-5275-01A-01D-1468-08	5100987	15228815	43900168	55	20954											
RBM39	9584	broad.mit.edu	37	chr20	34320047	34320047	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacgacttctgctcttgcTttttttcctcctgagaagaa	8	16	6	11	1	2	2	0	1	2	2	4	4	4	2	2	0	3	2	2	0	3	6			TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chr20:34320047T>C	ENST00000361162.6	-	4	496	c.112A>G	c.(112-114)Agc>Ggc	p.S38G	RBM39_ENST00000253363.6_Missense_Mutation_p.S38G|RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000528062.3_Missense_Mutation_p.S38G	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	38					mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					CTGCTCTTGCTTTTTTTCCTC	0.398													C	34320047	T	C	34320047	3	2	307	1	0	0	0	0	1	0	0	0	13221	1609	56	3	1536	3	RBM39	20	34320047	Missense_Mutation	SNP	T	TCGA-DB-5275-01A-01D-1468-08		34320047	28705473	56	20955											
ATRX	546	broad.mit.edu	37	chrX	76814305	76814305	+	Frame_Shift_Del	DEL	A	A	-																															cctgctttagtagaaatgatAaataatcgtcctctgaaaat																										TCGA-DB-5275-01A-01D-1468-08	TCGA-DB-5275-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc50e0af-23d9-4528-b5ac-3974449bc1aa	12ee7643-7bc5-4051-baa7-d1f9a6245fa1	g.chrX:76814305delA	ENST00000373344.5	-	29	6553	c.6339delT	c.(6337-6339)tttfs	p.F2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.F2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	TAGAAATGATAAATAATCGTC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814305	A	-	76814305	7	5	307	1	0	1	0	1	0	0	0	0	1213	359	13	0	1167	0	ATRX	23	76814305	Frame_Shift_Del	DEL	A	TCGA-DB-5275-01A-01D-1468-08		76814305	78456255	57	20956											
WDR3	10885	broad.mit.edu	37	chr1	118483783	118483783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagctggttccataatgCgggaaggaagagacagagtt	15	7	14	5	1	0	2	0	0	0	2	1	6	1	4	1	3	2	3	1	3	5	3	rs150881258		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr1:118483783C>T	ENST00000349139.5	+	8	873	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	WDR3_ENST00000369441.3_3'UTR	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus		p.R276W(1)		breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TTCCATAATGCGGGAAGGAAG	0.423													T	118483783	C	T	118483783	3	4	308	1	0	0	0	0	1	0	0	0	17387	759	27	1	852	1	WDR3	1	118483783	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08		118483783	130766838	1	20957											
GMCL1	64395	broad.mit.edu	37	chr2	70092031	70092031	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattttatgtatatttttaGgcctcaagaaatcaataaag	16	16	5	4	0	2	1	2	0	0	1	2	1	2	1	1	1	0	1	1	1	10	9			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:70092031G>T	ENST00000282570.3	+	11	1393		c.e11-1			NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1						cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TATATTTTTAGGCCTCAAGAA	0.318													T	70092031	G	T	70092031	5	4	308	1	0	0	0	0	0	0	1	0	6541	1014	35	4	1184	4	GMCL1	2	70092031	Splice_Site	SNP	G	TCGA-DB-5276-01A-01D-1468-08		70092031	173107342	2	20958											
ALMS1	7840	broad.mit.edu	37	chr2	73800143	73800143	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcaaattaaaattgaacaGattaaatttgataaatatat	22	14	3	2	0	1	3	1	2	0	1	1	3	1	3	0	0	1	0	0	0	11	7			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:73800143G>C	ENST00000264448.6	+	16	11247	c.11136G>C	c.(11134-11136)caG>caC	p.Q3712H	ALMS1_ENST00000409009.1_Missense_Mutation_p.Q3670H	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3712					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						AAATTGAACAGATTAAATTTG	0.373													C	73800143	G	C	73800143	3	2	308	1	0	0	0	0	1	0	0	0	535	933	33	4	11198	4	ALMS1	2	73800143	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	3708112	73800143	169399230	3	20959											
XIRP2	129446	broad.mit.edu	37	chr2	168110545	168110545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaatttttatttttagaagCtgctgctccaagacaaggaa	14	14	7	6	0	0	2	0	0	0	2	1	3	1	3	1	1	3	3	1	1	8	7			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:168110545C>G	ENST00000409195.1	+	10	10648	c.10559C>G	c.(10558-10560)gCt>gGt	p.A3520G	XIRP2_ENST00000295237.9_Missense_Mutation_p.A3520G|XIRP2_ENST00000409756.2_Missense_Mutation_p.L394V|XIRP2_ENST00000409728.1_Missense_Mutation_p.L427V|XIRP2_ENST00000409043.1_Missense_Mutation_p.L394V|XIRP2_ENST00000409605.1_Missense_Mutation_p.L172V|XIRP2_ENST00000409273.1_Missense_Mutation_p.A3298G|XIRP2_ENST00000420519.1_Missense_Mutation_p.L427V	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	3345					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTTAGAAGCTGCTGCTCCA	0.343													G	168110545	C	G	168110545	3	3	308	1	0	0	0	0	1	0	0	0	17532	797	28	4	10593	4	XIRP2	2	168110545	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	94310402	168110545	75088828	4	20960											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	308	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	41002568	209113113	34086260	5	20961											
BSN	8927	broad.mit.edu	37	chr3	49691063	49691064	+	Frame_Shift_Del	DEL	CT	CT	-																															gaccccctcaagctgcacagCtctcctgcctcccccagctc																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr3:49691063_49691064delCT	ENST00000296452.4	+	5	4188_4189	c.4074_4075delCT	c.(4072-4077)agctctfs	p.SS1358fs		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1358					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCTGCACAGCTCTCCTGCCTC	0.629													-	49691064	CT	-	49691063	7	5	308	1	0	1	0	1	0	0	0	0	1539	796	28	0	4092	0	BSN	3	49691063	Frame_Shift_Del	DEL	CT	TCGA-DB-5276-01A-01D-1468-08		49691063	148331367	6	20962											
CCDC158	339965	broad.mit.edu	37	chr4	77250102	77250102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttccctgtctcctgcGtgtaatgtgactggctctct	4	15	10	12	1	3	1	0	1	3	0	6	2	4	2	2	2	1	2	2	2	1	2	rs138548683	by1000genomes	TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr4:77250102G>A	ENST00000388914.3	-	21	3101	c.2949C>T	c.(2947-2949)caC>caT	p.H983H		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	983	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTCTCCTGCGTGTAATGTGA	0.433													A	77250102	G	A	77250102	2	1	308	1	0	0	0	0	0	0	0	1	2817	1136	40	1		1	CCDC158	4	77250102	Silent	SNP	G	TCGA-DB-5276-01A-01D-1468-08		77250102	113904174	7	20963											
CPEB4	80315	broad.mit.edu	37	chr5	173316976	173316977	+	Frame_Shift_Del	DEL	AA	AA	-																															atcttggggtcagaaaaagcAaaaagtcagcaacaggaaca																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr5:173316976_173316977delAA	ENST00000265085.5	+	1	1694_1695	c.240_241delAA	c.(238-243)gcaaaafs	p.K81fs	CPEB4_ENST00000519835.1_Frame_Shift_Del_p.K81fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.K81fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.K81fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	81							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGAAAAAGCAAAAAGTCAGCA	0.49													-	173316977	AA	-	173316976	7	5	308	1	0	1	0	1	0	0	0	0	3834	117	5	0	242	0	CPEB4	5	173316976	Frame_Shift_Del	DEL	AA	TCGA-DB-5276-01A-01D-1468-08		173316976	7598284	8	20964											
TTYH3	80727	broad.mit.edu	37	chr7	2687233	2687234	+	Frame_Shift_Ins	INS	-	-	G																															aacacggcggtgtcgctggaINSggtgctggcggagcaggtgg																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:2687233_2687234insG	ENST00000258796.7	+	4	792_793	c.587_588insG	c.(586-591)gaggtgfs	p.V197fs	TTYH3_ENST00000407643.1_Frame_Shift_Ins_p.V197fs	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	197						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		GTGTCGCTGGAGGTGCTGGCGG	0.673													G	2687234	-	G	2687233	7	5	308	1	0	1	1	0	0	0	0	0	16843	304	11	0	601	0	TTYH3	7	2687233	Frame_Shift_Ins	INS	-	TCGA-DB-5276-01A-01D-1468-08		2687233	156451430	9	20965											
SRRT	51593	broad.mit.edu	37	chr7	100482650	100482652	+	In_Frame_Del	DEL	AGG	AGG	-																															cggccaggctgaggaggagaAggaggaggccggtagggttt																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr7:100482650_100482652delAGG	ENST00000388793.4	+	9	1368_1370	c.1148_1150delAGG	c.(1147-1152)aaggag>aag	p.E385del	SRRT_ENST00000432932.1_In_Frame_Del_p.E385del|SRRT_ENST00000457580.2_In_Frame_Del_p.E385del|SRRT_ENST00000347433.4_In_Frame_Del_p.E385del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	385	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGGAGGAGAAGGAGGAGGCCGG	0.581													-	100482652	AGG	-	100482650	7	5	308	1	0	1	0	1	0	0	0	0	15268	72	3	0	1178	0	SRRT	7	100482650	In_Frame_Del	DEL	AGG	TCGA-DB-5276-01A-01D-1468-08	97795417	100482650	58656013	10	20966											
RBP3	5949	broad.mit.edu	37	chr10	48390167	48390167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcgatgtcctcggccacGcccctggtctggctgctggt	2	10	14	15	4	1	0	0	0	1	0	3	1	2	0	4	4	2	2	4	4	0	0			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr10:48390167G>A	ENST00000224600.4	-	1	824	c.711C>T	c.(709-711)ggC>ggT	p.G237G		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	237	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.G237G(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	CCTCGGCCACGCCCCTGGTCT	0.657													A	48390167	G	A	48390167	2	1	308	1	0	0	0	0	0	0	0	1	13245	1074	38	1		1	RBP3	10	48390167	Silent	SNP	G	TCGA-DB-5276-01A-01D-1468-08		48390167	87144580	11	20967											
TNNT3	7140	broad.mit.edu	37	chr11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttggggagaagctgaaaCgccagaaatatgacgtgagt	14	8	14	5	2	0	5	0	3	0	2	0	6	0	5	1	2	2	2	1	2	4	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:1956135C>T	ENST00000381558.1	+	13	922	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000493234.1_3'UTR			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612													T	1956135	C	T	1956135	3	4	308	1	0	0	0	0	1	0	0	0	16432	536	19	1	758	1	TNNT3	11	1956135	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08		1956135	133050381	12	20968											
OR51V1	283111	broad.mit.edu	37	chr11	5221701	5221701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccatgcacaggtcagtgAgggccagcatggacaggaag	11	4	15	11	0	1	1	1	1	0	0	1	3	1	3	3	4	2	2	3	4	1	0			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:5221701A>G	ENST00000321255.1	-	1	229	c.230T>C	c.(229-231)cTc>cCc	p.L77P		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGGTCAGTGAGGGCCAGCAT	0.537													G	5221701	A	G	5221701	3	3	308	1	0	0	0	0	1	0	0	0	11183	304	11	3	738	3	OR51V1	11	5221701	Missense_Mutation	SNP	A	TCGA-DB-5276-01A-01D-1468-08	3265566	5221701	129784815	13	20969											
PRDM11	56981	broad.mit.edu	37	chr11	45245878	45245878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcaaaagtccctacaagCgtggctttgatgagggggat	11	8	15	7	1	0	2	0	2	0	0	1	3	1	3	1	4	2	2	1	4	4	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:45245878C>T	ENST00000263765.4	+	8	1204	c.955C>T	c.(955-957)Cgt>Tgt	p.R319C	PRDM11_ENST00000528980.1_Intron|PRDM11_ENST00000424263.2_Missense_Mutation_p.R285C|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000530656.1_Missense_Mutation_p.R319C			Q9NQV5	PRD11_HUMAN	PR domain containing 11	319										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCTACAAGCGTGGCTTTGA	0.507													T	45245878	C	T	45245878	3	4	308	1	0	0	0	0	1	0	0	0	12538	768	27	1	981	1	PRDM11	11	45245878	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	40024177	45245878	89760638	14	20970											
C11orf68	83638	broad.mit.edu	37	chr11	65685203	65685203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaccctccttggcacgtggGctcaccttggccacctgaag	6	8	10	17	1	1	1	1	1	0	0	2	1	2	1	6	3	0	2	6	3	1	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr11:65685203G>T	ENST00000438576.2	-	2	694	c.609C>A	c.(607-609)agC>agA	p.S203R	C11orf68_ENST00000449692.3_Missense_Mutation_p.S202R|C11orf68_ENST00000530188.1_Missense_Mutation_p.S161R			Q9H3H3	CK068_HUMAN	chromosome 11 open reading frame 68	161										large_intestine(1)|lung(3)	4				READ - Rectum adenocarcinoma(159;0.166)		TGGCACGTGGGCTCACCTTGG	0.632													T	65685203	G	T	65685203	3	4	308	1	0	0	0	0	1	0	0	0	1670	1194	42	4	276	4	C11orf68	11	65685203	Missense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	20439325	65685203	69321313	15	20971											
C12orf40	283461	broad.mit.edu	37	chr12	40114882	40114885	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															gcaaggtgtgatgcagggatAcaaacagagagtgaatctgt																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr12:40114882_40114885delACAA	ENST00000324616.5	+	13	1942_1945	c.1788_1791delACAA	c.(1786-1791)atacaafs	p.IQ596fs		NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	596										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATGCAGGGATACAAACAGAGAGTG	0.402													-	40114885	ACAA	-	40114882	7	5	308	1	0	1	0	1	0	0	0	0	1699	381	14	0	1838	0	C12orf40	12	40114882	Frame_Shift_Del	DEL	ACAA	TCGA-DB-5276-01A-01D-1468-08		40114882	93737013	16	20972											
ACTR10	55860	broad.mit.edu	37	chr14	58675824	58675824	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttttcaaatattttgAggtacctgtctttatatcaa	10	20	5	6	0	4	1	2	1	2	0	4	1	4	1	1	1	1	2	1	1	6	10			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:58675824A>G	ENST00000254286.4	+	4	421	c.341A>G	c.(340-342)gAg>gGg	p.E114G		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	114						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						AAATATTTTGAGGTACCTGTC	0.333													G	58675824	A	G	58675824	5	3	308	1	0	0	0	0	0	0	1	0	208	318	11	3	355	3	ACTR10	14	58675824	Splice_Site	SNP	A	TCGA-DB-5276-01A-01D-1468-08		58675824	48673716	17	20973											
HEATR4	399671	broad.mit.edu	37	chr14	73989793	73989793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcatgccccatcccagtcGtgggggcagtgactgataga	10	8	12	11	1	1	3	1	2	0	1	3	3	2	3	3	2	1	1	3	2	2	1			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr14:73989793G>A	ENST00000553558.1	-	3	385	c.64C>T	c.(64-66)Cga>Tga	p.R22*	HEATR4_ENST00000334988.2_Nonsense_Mutation_p.R22*|HEATR4_ENST00000560393.1_De_novo_Start_OutOfFrame|RP3-414A15.2_ENST00000555972.2_RNA	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		CATCCCAGTCGTGGGGGCAGT	0.517													A	73989793	G	A	73989793	4	1	308	1	0	0	0	0	0	1	0	0	7085	1160	40	1		1	HEATR4	14	73989793	Nonsense_Mutation	SNP	G	TCGA-DB-5276-01A-01D-1468-08	15313969	73989793	33359747	18	20974											
BAIAP3	8938	broad.mit.edu	37	chr16	1397309	1397310	+	Frame_Shift_Ins	INS	-	-	T																															ctgccccaggccctggtcagINSttttttccacgcagagggtc																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr16:1397309_1397310insT	ENST00000324385.5	+	29	3025_3026	c.2867_2868insT	c.(2866-2871)agttttfs	p.SF956fs	BAIAP3_ENST00000397489.1_Frame_Shift_Ins_p.SF938fs|BAIAP3_ENST00000421665.2_Frame_Shift_Ins_p.SF885fs|BAIAP3_ENST00000562208.1_Frame_Shift_Ins_p.SF898fs|BAIAP3_ENST00000564213.1_3'UTR|BAIAP3_ENST00000426824.3_Frame_Shift_Ins_p.SF921fs|BAIAP3_ENST00000397488.2_Frame_Shift_Ins_p.SF938fs|BAIAP3_ENST00000568887.1_Frame_Shift_Ins_p.SF893fs	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	956	MHD2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				GCCCTGGTCAGTTTTTTCCACG	0.639													T	1397310	-	T	1397309	7	5	308	1	0	1	1	0	0	0	0	0	1309	1029	36	0	2981	0	BAIAP3	16	1397309	Frame_Shift_Ins	INS	-	TCGA-DB-5276-01A-01D-1468-08		1397309	88957444	19	20975											
ICT1	3396	broad.mit.edu	37	chr17	73016725	73016727	+	In_Frame_Del	DEL	AAG	AAG	-																															gacaccgaaggagccaacaaAagaagatgttaaacttcata																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr17:73016725_73016727delAAG	ENST00000301585.5	+	5	522_524	c.509_511delAAG	c.(508-513)aaagaa>aaa	p.E171del		NM_001545.1	NP_001536.1	Q14197	ICT1_HUMAN	immature colon carcinoma transcript 1	171					mitochondrial translational termination	mitochondrial large ribosomal subunit	aminoacyl-tRNA hydrolase activity|translation release factor activity, codon nonspecific			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)|urinary_tract(1)	6	all_lung(278;0.226)					GAGCCAACAAAAGAAGATGTTAA	0.473													-	73016727	AAG	-	73016725	7	5	308	1	0	1	0	1	0	0	0	0	7546	14	1	0	527	0	ICT1	17	73016725	In_Frame_Del	DEL	AAG	TCGA-DB-5276-01A-01D-1468-08		73016725	8178485	20	20976											
LGALS13	29124	broad.mit.edu	37	chr19	40095291	40095291	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggttcctgcgtgataaTcaaagggacaccaatccact	11	11	9	10	1	1	1	1	1	0	0	3	2	3	2	3	2	1	2	3	2	3	3			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:40095291T>A	ENST00000221797.4	+	2	110	c.65T>A	c.(64-66)aTc>aAc	p.I22N		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	22	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			TGCGTGATAATCAAAGGGACA	0.473													A	40095291	T	A	40095291	3	1	308	1	0	0	0	0	1	0	0	0	8799	1435	50	5	71	5	LGALS13	19	40095291	Missense_Mutation	SNP	T	TCGA-DB-5276-01A-01D-1468-08		40095291	19033692	21	20977											
ZNF582	147948	broad.mit.edu	37	chr19	56901871	56901871	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgaacaattctgacccCtggaatgacaggcatgtatg	11	10	9	11	0	1	3	0	3	1	0	2	4	2	4	3	2	1	2	3	2	4	2			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:56901871C>T	ENST00000301310.4	-	3	168		c.e3-1		ZNF582_ENST00000586929.1_Splice_Site	NM_144690.1	NP_653291.1	Q96NG8	ZN582_HUMAN	zinc finger protein 582						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0547)		ATTCTGACCCCTGGAATGACA	0.488													T	56901871	C	T	56901871	5	4	308	1	0	0	0	0	0	0	1	0	18115	695	24	2	1556	2	ZNF582	19	56901871	Splice_Site	SNP	C	TCGA-DB-5276-01A-01D-1468-08	16806580	56901871	2227112	22	20978											
AURKC	6795	broad.mit.edu	37	chr19	57744018	57744018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaaggagctgcagaaaagCgagaaattagatgaacagcg	18	5	12	6	2	0	4	0	1	0	3	0	6	0	5	0	1	6	2	0	1	7	2	rs141028635		TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr19:57744018C>T	ENST00000302804.7	+	4	591	c.405C>T	c.(403-405)agC>agT	p.S135S	AURKC_ENST00000599062.1_Silent_p.S132S|AURKC_ENST00000598785.1_Silent_p.S101S|AURKC_ENST00000415300.2_Silent_p.S116S|AURKC_ENST00000448930.1_Silent_p.S101S	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	135	Protein kinase.				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		TGCAGAAAAGCGAGAAATTAG	0.537													T	57744018	C	T	57744018	2	4	308	1	0	0	0	0	0	0	0	1	1229	767	27	1		1	AURKC	19	57744018	Silent	SNP	C	TCGA-DB-5276-01A-01D-1468-08	842147	57744018	1384965	23	20979											
VPS16	64601	broad.mit.edu	37	chr20	2843377	2843377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcctggatggccgggcCggggagggtggggctgggag	3	6	25	7	2	0	0	0	0	0	0	0	3	0	3	3	10	0	2	3	10	0	1			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr20:2843377C>T	ENST00000380443.3	+	1	275	c.186C>T	c.(184-186)gcC>gcT	p.A62A	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000380445.3_Intron|VPS16_ENST00000481812.2_Intron			Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	401					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						ATGGCCGGGCCGGGGAGGGTG	0.647													T	2843377	C	T	2843377	2	4	308	1	0	0	0	0	0	0	0	1	17295	667	23	1		1	VPS16	20	2843377	Silent	SNP	C	TCGA-DB-5276-01A-01D-1468-08		2843377	60182143	24	20980											
TRMT6	51605	broad.mit.edu	37	chr20	5925533	5925533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatcatcaactatatttCgattatcagtgcccgcttct	9	15	4	13	2	4	0	3	0	1	0	6	1	5	0	2	0	2	1	2	0	4	5			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chr20:5925533C>A	ENST00000203001.2	-	3	414	c.284G>T	c.(283-285)cGa>cTa	p.R95L	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Intron	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	95					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						AACTATATTTCGATTATCAGT	0.333													A	5925533	C	A	5925533	3	1	308	1	0	0	0	0	1	0	0	0	16669	884	31	4	1245	4	TRMT6	20	5925533	Missense_Mutation	SNP	C	TCGA-DB-5276-01A-01D-1468-08	3082156	5925533	57099987	25	20981											
BCOR	54880	broad.mit.edu	37	chrX	39922031	39922032	+	Frame_Shift_Del	DEL	CT	CT	-																															attctccacgtagtattcccCtgtcagtggcaatccccgcc																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:39922031_39922032delCT	ENST00000342274.4	-	9	4400_4401	c.4038_4039delAG	c.(4036-4041)acagggfs	p.G1347fs	BCOR_ENST00000378463.1_Frame_Shift_Del_p.G224fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.G1347fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.G1381fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.G1329fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1381					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TAGTATTCCCCTGTCAGTGGCA	0.579			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39922032	CT	-	39922031	7	5	308	1	0	1	0	1	0	0	0	0	1391	681	24	0	1154	0	BCOR	23	39922031	Frame_Shift_Del	DEL	CT	TCGA-DB-5276-01A-01D-1468-08		39922031	115348529	26	20982											
ATRX	546	broad.mit.edu	37	chrX	76939181	76939184	+	Frame_Shift_Del	DEL	AGGA	AGGA	-																															aaaaatgtcttctggaactgAggaaggaacagacacaatat																										TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:76939181_76939184delAGGA	ENST00000373344.5	-	9	1778_1781	c.1564_1567delTCCT	c.(1564-1569)tcctcafs	p.SS522fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.SS484fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	522					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)	TCTGGAACTGAGGAAGGAACAGAC	0.407			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939184	AGGA	-	76939181	7	5	308	1	0	1	0	1	0	0	0	0	1213	304	11	0	6019	0	ATRX	23	76939181	Frame_Shift_Del	DEL	AGGA	TCGA-DB-5276-01A-01D-1468-08	37017150	76939181	78331379	27	20983											
TBX22	50945	broad.mit.edu	37	chrX	79279563	79279563	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattttctttcttacaggCggatgttcccctctgttcgg	4	18	8	11	2	3	0	0	0	3	0	5	1	4	1	2	3	1	2	2	3	2	7			TCGA-DB-5276-01A-01D-1468-08	TCGA-DB-5276-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fc6b7655-9307-4c8b-b1f6-f29a4dabd72c	289ad150-2e4f-4d98-9ebc-af05a0b95e7f	g.chrX:79279563C>T	ENST00000373294.5	+	3	386	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	TBX22_ENST00000373296.3_Splice_Site_p.R120W|TBX22_ENST00000442340.1_5'UTR|TBX22_ENST00000373291.1_5'UTR	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	120					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTCTTACAGGCGGATGTTCCC	0.483													T	79279563	C	T	79279563	5	4	308	1	0	0	0	0	0	0	1	0	15758	782	27	1	368	1	TBX22	23	79279563	Splice_Site	SNP	C	TCGA-DB-5276-01A-01D-1468-08	2340382	79279563	75990997	28	20984											
CHD5	26038	broad.mit.edu	37	chr1	6202211	6202212	+	Frame_Shift_Ins	INS	-	-	A																															atacggaataccttcttcccINSactccgaatggcgttgtcct																										TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:6202211_6202212insA	ENST00000262450.3	-	15	2511_2512	c.2412_2413insT	c.(2410-2415)agtgggfs	p.G805fs	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	805	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		ACCTTCTTCCCACTCCGAATGG	0.599													A	6202212	-	A	6202211	7	5	309	1	0	1	1	0	0	0	0	0	3358	594	21	0	3559	0	CHD5	1	6202211	Frame_Shift_Ins	INS	-	TCGA-DB-5277-01A-01D-1468-08		6202211	243048410	1	20985											
HSPG2	3339	broad.mit.edu	37	chr1	22166420	22166420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatggcgcccgtgtccaCgatcacctccacctgcttct	5	9	9	18	3	2	0	1	0	1	0	4	1	4	0	6	2	1	1	6	2	0	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:22166420C>T	ENST00000374695.3	-	72	9683	c.9604G>A	c.(9604-9606)Gtg>Atg	p.V3202M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3202	Ig-like C2-type 17.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCGTGTCCACGATCACCTCC	0.587													T	22166420	C	T	22166420	3	4	309	1	0	0	0	0	1	0	0	0	7488	536	19	1	3675	1	HSPG2	1	22166420	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	15964209	22166420	227084201	2	20986											
C1orf173	127254	broad.mit.edu	37	chr1	75037595	75037595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctgggtccttagcaCgacatccactcctccttgcc	6	11	7	17	1	0	0	0	0	0	0	5	1	5	0	6	1	3	2	6	1	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:75037595C>T	ENST00000326665.5	-	14	4017	c.3799G>A	c.(3799-3801)Gtg>Atg	p.V1267M	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	1267	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						GTCCTTAGCACGACATCCACT	0.577													T	75037595	C	T	75037595	3	4	309	1	0	0	0	0	1	0	0	0	2034	536	19	1	797	1	C1orf173	1	75037595	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	52871175	75037595	174213026	3	20987											
FAM46C	54855	broad.mit.edu	37	chr1	118166247	118166247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtacagcaaccttcttgtgCgggacttcaggcccacagac	10	8	10	13	1	2	1	1	0	1	1	2	2	2	2	2	2	4	2	2	2	2	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:118166247C>T	ENST00000369448.3	+	2	1004	c.757C>T	c.(757-759)Cgg>Tgg	p.R253W		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	253										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		CCTTCTTGTGCGGGACTTCAG	0.512			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			T	118166247	C	T	118166247	3	4	309	1	0	0	0	0	1	0	0	0	5618	759	27	1	759	1	FAM46C	1	118166247	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	43128652	118166247	131084374	4	20988											
TMOD4	29765	broad.mit.edu	37	chr1	151146889	151146889	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctcgcctgtgaagggCaccaagtcatcacgctcttt	7	13	8	13	2	5	1	2	1	3	0	6	1	5	1	2	1	0	2	2	1	2	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:151146889C>G	ENST00000416280.2	-	3	357	c.258G>C	c.(256-258)gtG>gtC	p.V86V				Q9NZQ9	TMOD4_HUMAN	tropomodulin 4 (muscle)	138					muscle contraction	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGTGAAGGGCACCAAGTCAT	0.562													G	151146889	C	G	151146889	2	3	309	1	0	0	0	0	0	0	0	1	16336	697	25	4		4	TMOD4	1	151146889	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	32980642	151146889	98103732	5	20989											
FLG	2312	broad.mit.edu	37	chr1	152278795	152278795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaagcttcatggtgacgcGaccctgagtgcctggagccg	7	8	15	11	3	1	2	1	2	0	0	1	5	1	4	3	3	3	1	3	3	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:152278795G>A	ENST00000368799.1	-	3	8602	c.8567C>T	c.(8566-8568)tCg>tTg	p.S2856L	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2856	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.577									Ichthyosis				A	152278795	G	A	152278795	3	1	309	1	0	0	0	0	1	0	0	0	5971	1059	37	1	3622	1	FLG	1	152278795	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	1131906	152278795	96971826	6	20990											
ASPM	259266	broad.mit.edu	37	chr1	197086968	197086968	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttccagcttttcctttTttaacattaataattttctc	8	23	1	9	0	1	0	0	0	1	0	4	0	3	0	2	0	2	1	2	0	3	11			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:197086968T>G	ENST00000367409.4	-	17	4272	c.4016A>C	c.(4015-4017)aAa>aCa	p.K1339T	ASPM_ENST00000294732.7_Missense_Mutation_p.K1339T|ASPM_ENST00000367408.1_Missense_Mutation_p.K589T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1339					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTCCTTTTTTAACATTAA	0.289													G	197086968	T	G	197086968	3	3	309	1	0	0	0	0	1	0	0	0	1061	1841	64	5	6465	5	ASPM	1	197086968	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	44808173	197086968	52163653	7	20991											
NLRP3	114548	broad.mit.edu	37	chr1	247582222	247582222	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggctgcatccccctcccGaggggtcagacagagaaggc	10	4	14	13	1	1	2	1	0	0	2	3	4	3	2	3	4	1	2	3	4	2	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr1:247582222G>A	ENST00000366497.2	+	2	906	c.126G>A	c.(124-126)ccG>ccA	p.P42P	NLRP3_ENST00000391827.2_Silent_p.P42P|NLRP3_ENST00000348069.2_Silent_p.P42P|NLRP3_ENST00000366496.2_Silent_p.P42P|NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000391828.3_Silent_p.P42P|NLRP3_ENST00000336119.3_Silent_p.P42P	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	42	DAPIN.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCCCCCTCCCGAGGGGTCAGA	0.562													A	247582222	G	A	247582222	2	1	309	1	0	0	0	0	0	0	0	1	10554	1045	37	1		1	NLRP3	1	247582222	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	50495254	247582222	1668399	8	20992											
NBAS	51594	broad.mit.edu	37	chr2	15555741	15555741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctaaagttactaaatattCttttaatagctcattagcca	15	15	4	7	0	2	0	1	0	1	0	2	0	2	0	1	0	4	3	1	0	9	9			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:15555741C>G	ENST00000281513.5	-	25	2891	c.2866G>C	c.(2866-2868)Gaa>Caa	p.E956Q	NBAS_ENST00000441750.1_Intron	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	956										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACTAAATATTCTTTTAATAGC	0.368													G	15555741	C	G	15555741	3	3	309	1	0	0	0	0	1	0	0	0	10262	922	32	4	4361	4	NBAS	2	15555741	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		15555741	227643632	9	20993											
VIT	5212	broad.mit.edu	37	chr2	37035632	37035632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggccgtgtgcagaacaaaCggcttctactcgctccacgt	9	9	10	13	4	1	1	0	0	1	1	3	1	2	1	2	2	4	3	2	2	4	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:37035632C>T	ENST00000379242.3	+	15	1709	c.1407C>T	c.(1405-1407)aaC>aaT	p.N469N	VIT_ENST00000379241.3_Silent_p.N432N|VIT_ENST00000389975.3_Silent_p.N454N|VIT_ENST00000404084.1_Silent_p.N406N|VIT_ENST00000497382.1_Silent_p.N123N|VIT_ENST00000401530.1_Silent_p.N433N	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	454	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GCAGAACAAACGGCTTCTACT	0.622													T	37035632	C	T	37035632	2	4	309	1	0	0	0	0	0	0	0	1	17273	535	19	1		1	VIT	2	37035632	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	21479891	37035632	206163741	10	20994											
KIAA1841	84542	broad.mit.edu	37	chr2	61315601	61315601	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatattgtctatattcacatAaggtgtcgtgaagataaaat	16	14	7	4	1	2	2	1	1	1	1	3	2	2	2	0	1	0	0	0	1	8	7			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:61315601A>C	ENST00000402291.1	+	10	1327	c.1086A>C	c.(1084-1086)atA>atC	p.I362I	KIAA1841_ENST00000356719.2_Silent_p.I362I|KIAA1841_ENST00000295031.5_Silent_p.I362I|KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Silent_p.I362I	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	362										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			ATATTCACATAAGGTGTCGTG	0.328													C	61315601	A	C	61315601	2	2	309	1	0	0	0	0	0	0	0	1	8319	352	13	5		5	KIAA1841	2	61315601	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08	24279969	61315601	181883772	11	20995											
RFTN2	130132	broad.mit.edu	37	chr2	198436793	198436793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccgtcgtctaattccCggaggacgttgtcactgctg	6	12	11	12	4	2	0	1	0	1	0	5	2	4	2	2	2	1	2	2	2	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:198436793C>A	ENST00000295049.4	-	9	1981	c.1445G>T	c.(1444-1446)cGg>cTg	p.R482L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GTCTAATTCCCGGAGGACGTT	0.532													A	198436793	C	A	198436793	3	1	309	1	0	0	0	0	1	0	0	0	13347	652	23	4	64	4	RFTN2	2	198436793	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	137121192	198436793	44762580	12	20996											
ADAM23	8745	broad.mit.edu	37	chr2	207310230	207310230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgacacaaaggcaagacaCcagcaaaaacataataaggt	20	5	7	9	0	0	2	0	1	0	1	0	2	0	2	1	2	2	2	1	2	6	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:207310230C>G	ENST00000264377.3	+	2	742	c.414C>G	c.(412-414)caC>caG	p.H138Q	ADAM23_ENST00000374415.3_Missense_Mutation_p.H138Q|ADAM23_ENST00000374416.1_Missense_Mutation_p.H138Q	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	138					cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		AGGCAAGACACCAGCAAAAAC	0.398													G	207310230	C	G	207310230	3	3	309	1	0	0	0	0	1	0	0	0	245	506	18	4	420	4	ADAM23	2	207310230	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	8873437	207310230	35889143	13	20997											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	309	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	1802882	209113112	34086261	14	20998											
SP100	6672	broad.mit.edu	37	chr2	231314895	231314895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttatctccagagtcctgcGaacaaattgctgtccaagtg	10	12	9	10	1	1	1	0	0	1	1	4	2	3	1	3	0	3	2	3	0	4	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr2:231314895G>A	ENST00000264052.5	+	8	1100	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	SP100_ENST00000409341.1_Missense_Mutation_p.E249K|SP100_ENST00000340126.4_Missense_Mutation_p.E249K|SP100_ENST00000341950.4_Missense_Mutation_p.E249K|SP100_ENST00000409112.1_Missense_Mutation_p.E249K|SP100_ENST00000427101.2_Missense_Mutation_p.E224K|SP100_ENST00000409824.1_Missense_Mutation_p.E224K|SP100_ENST00000409897.1_Missense_Mutation_p.E214K	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	249					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		AGAGTCCTGCGAACAAATTGC	0.473													A	231314895	G	A	231314895	3	1	309	1	0	0	0	0	1	0	0	0	15054	1059	37	1	775	1	SP100	2	231314895	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	22201783	231314895	11884478	15	20999											
GPR149	344758	broad.mit.edu	37	chr3	154145322	154145322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttttcccatcggacGccactgcatatgcgttctgc	6	15	7	13	3	1	0	0	0	1	0	3	1	2	1	2	1	4	2	2	1	2	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr3:154145322G>A	ENST00000389740.2	-	2	1256	c.1157C>T	c.(1156-1158)gCg>gTg	p.A386V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	386						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CCCATCGGACGCCACTGCATA	0.488													A	154145322	G	A	154145322	3	1	309	1	0	0	0	0	1	0	0	0	6708	1087	38	1	1050	1	GPR149	3	154145322	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		154145322	43877108	16	21000											
SPEF2	79925	broad.mit.edu	37	chr5	35709170	35709170	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagagaaggaaattcAtcaaagccatgtggcttcaa	19	7	9	6	0	3	2	3	0	0	2	3	4	3	3	1	2	1	1	1	2	6	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:35709170A>G	ENST00000440995.2	+	19	2771	c.2771A>G	c.(2770-2772)cAt>cGt	p.H924R	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.H924R|SPEF2_ENST00000356031.3_Missense_Mutation_p.H929R			Q9C093	SPEF2_HUMAN	sperm flagellar 2	929					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)			AAGGAAATTCATCAAAGCCAT	0.418													G	35709170	A	G	35709170	3	3	309	1	0	0	0	0	1	0	0	0	15131	217	8	3	2881	3	SPEF2	5	35709170	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		35709170	145206090	17	21001											
PAIP1	10605	broad.mit.edu	37	chr5	43529961	43529961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcctctctttcaagtaattCttggtatttctcttggtaat	7	20	6	8	0	4	0	1	0	3	0	7	0	5	0	1	2	0	3	1	2	4	8			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:43529961C>G	ENST00000306846.3	-	10	1505	c.1273G>C	c.(1273-1275)Gaa>Caa	p.E425Q	PAIP1_ENST00000514514.1_Intron|PAIP1_ENST00000338972.4_Missense_Mutation_p.E313Q|PAIP1_ENST00000436644.2_Missense_Mutation_p.E346Q	NM_006451.4|NM_182789.3	NP_006442.2|NP_877590.1	Q9H074	PAIP1_HUMAN	poly(A) binding protein interacting protein 1	425					mRNA stabilization|nuclear-transcribed mRNA poly(A) tail shortening|translational initiation	cytosol	protein binding|RNA binding|translation activator activity			endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Lung NSC(6;2.07e-05)					TCAAGTAATTCTTGGTATTTC	0.333													G	43529961	C	G	43529961	3	3	309	1	0	0	0	0	1	0	0	0	11472	922	32	4	174	4	PAIP1	5	43529961	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	7820791	43529961	137385299	18	21002											
ANKHD1	54882	broad.mit.edu	37	chr5	139917069	139917069	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaacagagagactggccCgaattcggcaaggagggtct	11	7	15	8	2	1	2	0	0	1	2	2	6	1	4	1	5	1	1	1	5	3	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:139917069C>T	ENST00000297183.6	+	31	7247	c.7123C>T	c.(7123-7125)Cga>Tga	p.R2375*	ANKHD1_ENST00000360839.2_Nonsense_Mutation_p.R2375*|ANKHD1-EIF4EBP3_ENST00000532219.1_Nonsense_Mutation_p.R2375*|ANKHD1_ENST00000544120.1_Nonsense_Mutation_p.R699*	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAGACTGGCCCGAATTCGGCA	0.552													T	139917069	C	T	139917069	4	4	309	1	0	0	0	0	0	1	0	0	628	644	23	1	7351	1	ANKHD1	5	139917069	Nonsense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	96387108	139917069	40998191	19	21003											
SH3TC2	79628	broad.mit.edu	37	chr5	148407828	148407828	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtgaggaaagagaaggaGaagtcatagagactcttaaa	19	6	13	3	0	2	4	1	1	1	3	2	9	2	5	0	2	0	0	0	2	7	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:148407828G>A	ENST00000538184.1	-	7	996	c.108C>T	c.(106-108)ttC>ttT	p.F36F	SH3TC2_ENST00000515425.1_Silent_p.F489F|SH3TC2_ENST00000394358.2_Silent_p.F374F|SH3TC2_ENST00000512049.1_Silent_p.F482F			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	489							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAGAGAAGGAGAAGTCATAGA	0.483													A	148407828	G	A	148407828	2	1	309	1	0	0	0	0	0	0	0	1	14356	933	33	2		2	SH3TC2	5	148407828	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	8490759	148407828	32507432	20	21004											
ATP10B	23120	broad.mit.edu	37	chr5	160047926	160047926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaatcttctccagggacgtcCccagagccttgcttgagggt	7	10	12	12	1	2	2	0	1	2	1	4	4	3	3	4	2	2	1	4	2	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr5:160047926C>T	ENST00000327245.5	-	15	2690	c.1844G>A	c.(1843-1845)gGg>gAg	p.G615E	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	615					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGGGACGTCCCCAGAGCCTT	0.488													T	160047926	C	T	160047926	3	4	309	1	0	0	0	0	1	0	0	0	1122	623	22	2	2589	2	ATP10B	5	160047926	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	11640098	160047926	20867334	21	21005											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104189	26104189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaatcatgtctggtcgcgGcaaaggcggaaaaggcttgg	11	7	16	7	3	2	0	1	0	1	0	3	2	2	2	0	7	0	2	0	7	4	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:26104189G>A	ENST00000377803.2	+	1	86	c.14G>A	c.(13-15)gGc>gAc	p.G5D		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	5					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCTGGTCGCGGCAAAGGCGGA	0.502													A	26104189	G	A	26104189	3	1	309	1	0	0	0	0	1	0	0	0	7222	1203	42	2	16	2	HIST1H4C	6	26104189	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		26104189	145010878	22	21006											
PHF1	5252	broad.mit.edu	37	chr6	33383710	33383710	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctagacgctcagcaccCccttctcccctgtgccgtag	5	10	7	19	2	2	1	1	0	1	1	4	1	3	1	6	0	2	3	6	0	2	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:33383710C>A	ENST00000374516.3	+	15	1810	c.1539C>A	c.(1537-1539)ccC>ccA	p.P513P	PHF1_ENST00000374512.3_3'UTR	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	513					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				GCTCAGCACCCCCTTCTCCCC	0.607													A	33383710	C	A	33383710	2	1	309	1	0	0	0	0	0	0	0	1	11897	610	22	4		4	PHF1	6	33383710	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	7279521	33383710	137731357	23	21007											
CAPN11	11131	broad.mit.edu	37	chr6	44143869	44143869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtgagagggcacgcttactCtgtgactggccttcaggatg	7	10	15	9	1	2	2	1	2	1	1	2	4	2	3	1	4	1	2	1	4	1	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:44143869C>G	ENST00000398776.1	+	8	934	c.896C>G	c.(895-897)tCt>tGt	p.S299C	CAPN11_ENST00000542245.1_Missense_Mutation_p.S299C	NM_007058.3	NP_008989.2	Q9UMQ6	CAN11_HUMAN	calpain 11	299	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACGCTTACTCTGTGACTGGC	0.542													G	44143869	C	G	44143869	3	3	309	1	0	0	0	0	1	0	0	0	2650	913	32	4	926	4	CAPN11	6	44143869	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	10760159	44143869	126971198	24	21008											
HTR1B	3351	broad.mit.edu	37	chr6	78172156	78172156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtagccaacacacaataaagGctcccaaaatgatccctagg	16	6	7	12	0	0	1	0	1	0	0	2	1	2	1	3	2	2	2	3	2	8	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:78172156G>T	ENST00000369947.2	-	1	1334	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_000863.1	NP_000854.1	P28222	5HT1B_HUMAN	5-hydroxytryptamine (serotonin) receptor 1B, G protein-coupled	322					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cAMP biosynthetic process|synaptic transmission	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	25		all_cancers(76;0.0867)|Acute lymphoblastic leukemia(125;0.00119)|all_hematologic(105;0.0332)		BRCA - Breast invasive adenocarcinoma(397;0.205)	Almotriptan(DB00918)|Dexfenfluramine(DB01191)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Pindolol(DB00960)|Propranolol(DB00571)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Venlafaxine(DB00285)|Zolmitriptan(DB00315)	CACAATAAAGGCTCCCAAAAT	0.507													T	78172156	G	T	78172156	3	4	309	1	0	0	0	0	1	0	0	0	7495	1203	42	4	211	4	HTR1B	6	78172156	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	34028287	78172156	92942911	25	21009											
TPBG	7162	broad.mit.edu	37	chr6	83075656	83075656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctcacctgtgcatatccGgaaaaaatgaggaatcgggt	12	8	12	9	3	1	1	1	1	0	0	3	3	2	3	2	4	1	2	2	4	5	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr6:83075656G>A	ENST00000369750.3	+	2	1595	c.978G>A	c.(976-978)ccG>ccA	p.P326P	TPBG_ENST00000535040.1_Silent_p.P326P|TPBG_ENST00000543496.1_Silent_p.P326P			Q13641	TPBG_HUMAN	trophoblast glycoprotein	326	LRRCT.				cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		GTGCATATCCGGAAAAAATGA	0.542													A	83075656	G	A	83075656	2	1	309	1	0	0	0	0	0	0	0	1	16495	1103	39	1		1	TPBG	6	83075656	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	4903500	83075656	88039411	26	21010											
TRPV5	56302	broad.mit.edu	37	chr7	142626123	142626123	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccagctcttacccagggAgtcctgggccctgatgtcag	7	9	11	14	0	2	1	1	1	1	0	4	2	4	2	4	2	2	1	4	2	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr7:142626123A>G	ENST00000265310.1	-	5	928	c.580T>C	c.(580-582)Tcc>Ccc	p.S194P	TRPV5_ENST00000442623.1_Missense_Mutation_p.S194P	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	194					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TTACCCAGGGAGTCCTGGGCC	0.612													G	142626123	A	G	142626123	3	3	309	1	0	0	0	0	1	0	0	0	16700	304	11	3	1653	3	TRPV5	7	142626123	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		142626123	16512540	27	21011											
CDH17	1015	broad.mit.edu	37	chr8	95142932	95142932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctggtgacctgctggccGgaaacaacttccttccacac	9	9	9	14	1	1	1	0	1	1	0	3	2	3	2	4	3	3	1	4	3	2	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:95142932G>A	ENST00000027335.3	-	17	2444	c.2320C>T	c.(2320-2322)Cgg>Tgg	p.R774W	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Missense_Mutation_p.R774W	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	774	Cadherin 7.					integral to membrane	calcium ion binding	p.R774W(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGCTGGCCGGAAACAACTT	0.448													A	95142932	G	A	95142932	3	1	309	1	0	0	0	0	1	0	0	0	3132	1115	39	1	186	1	CDH17	8	95142932	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		95142932	51221090	28	21012											
RNF139	11236	broad.mit.edu	37	chr8	125498877	125498880	+	Frame_Shift_Del	DEL	TTTA	TTTA	-																															cttggctttgttgcacctgtTttattttttattttggctct																										TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr8:125498877_125498880delTTTA	ENST00000303545.3	+	2	1359_1362	c.987_990delTTTA	c.(985-990)gttttafs	p.VL329fs		NM_007218.3	NP_009149.2	Q8WU17	RN139_HUMAN	ring finger protein 139	329					negative regulation of cell proliferation|regulation of protein ubiquitination	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(1)	20	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTGCACCTGTTTTATTTTTTATTT	0.412													-	125498880	TTTA	-	125498877	7	5	309	1	0	1	0	1	0	0	0	0	13533	1828	64	0	993	0	RNF139	8	125498877	Frame_Shift_Del	DEL	TTTA	TCGA-DB-5277-01A-01D-1468-08	30355945	125498877	20865145	29	21013											
AKR1E2	83592	broad.mit.edu	37	chr10	4881968	4881968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaatctgatcagtttttgCcaatccagagatgtgtccgt	11	13	9	8	1	2	3	1	1	1	2	4	4	4	3	3	0	1	1	3	0	3	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:4881968C>T	ENST00000298375.7	+	6	701	c.630C>T	c.(628-630)tgC>tgT	p.C210C	AKR1E2_ENST00000525281.1_Intron|AKR1E2_ENST00000334019.4_Intron|AKR1E2_ENST00000345253.5_Intron|AKR1E2_ENST00000532248.1_Intron	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	210						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.C210C(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TCAGTTTTTGCCAATCCAGAG	0.433													T	4881968	C	T	4881968	2	4	309	1	0	0	0	0	0	0	0	1	474	747	26	2		2	AKR1E2	10	4881968	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08		4881968	130652779	30	21014											
ZNF438	220929	broad.mit.edu	37	chr10	31138346	31138346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagccttctgtggtggaggGtatcttatcacagtcggcct	8	12	12	9	1	3	0	1	0	2	0	4	1	3	1	2	4	1	1	2	4	3	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:31138346G>A	ENST00000452305.1	-	8	1521	c.958C>T	c.(958-960)Ccc>Tcc	p.P320S	ZNF438_ENST00000375311.1_5'UTR|ZNF438_ENST00000361310.3_Missense_Mutation_p.P330S|ZNF438_ENST00000413025.1_Missense_Mutation_p.P330S|ZNF438_ENST00000444692.2_Missense_Mutation_p.P320S|ZNF438_ENST00000442986.1_Missense_Mutation_p.P330S|ZNF438_ENST00000331737.6_Missense_Mutation_p.P320S|ZNF438_ENST00000436087.2_Missense_Mutation_p.P330S|ZNF438_ENST00000538351.2_Missense_Mutation_p.P281S	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				GTGGTGGAGGGTATCTTATCA	0.463													A	31138346	G	A	31138346	3	1	309	1	0	0	0	0	1	0	0	0	18011	1261	44	2	1506	2	ZNF438	10	31138346	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	26256378	31138346	104396401	31	21015											
CHST15	51363	broad.mit.edu	37	chr10	125801890	125801890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgatggatctggtgtgcGgccaggtcaaagaggtccag	8	9	15	9	1	2	2	1	1	1	1	3	3	3	3	3	5	1	0	3	5	1	1	rs150036804		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr10:125801890G>A	ENST00000346248.5	-	4	1602	c.960C>T	c.(958-960)gcC>gcT	p.A320A	CHST15_ENST00000435907.1_Silent_p.A320A|CHST15_ENST00000421115.1_Silent_p.A320A	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	320					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCTGGTGTGCGGCCAGGTCAA	0.527													A	125801890	G	A	125801890	2	1	309	1	0	0	0	0	0	0	0	1	3433	1103	39	1		1	CHST15	10	125801890	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	94663544	125801890	9732857	32	21016											
TRIM68	55128	broad.mit.edu	37	chr11	4626616	4626616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcccagagtccagagAgacagctgtggcagaagctg	11	6	14	10	0	1	4	0	0	1	4	3	6	2	5	2	2	2	3	2	2	1	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:4626616A>G	ENST00000300747.5	-	2	408	c.119T>C	c.(118-120)cTc>cCc	p.L40P		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	40					protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GAGTCCAGAGAGACAGCTGTG	0.572													G	4626616	A	G	4626616	3	3	309	1	0	0	0	0	1	0	0	0	16642	304	11	3	1362	3	TRIM68	11	4626616	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		4626616	130379900	33	21017											
MS4A7	58475	broad.mit.edu	37	chr11	60150653	60150653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatgggggtttctcacagCtttacaccaaagggcatcac	11	9	9	12	0	2	0	2	0	1	0	3	0	2	0	2	3	2	3	2	3	2	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:60150653C>T	ENST00000358246.1	+	2	232	c.39C>T	c.(37-39)agC>agT	p.S13S	MS4A7_ENST00000530234.2_Silent_p.S13S|MS4A7_ENST00000300184.3_Silent_p.S13S|MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000534016.1_Silent_p.S13S	NM_206938.1|NM_206940.1	NP_996821.1|NP_996823.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	13						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TTTCTCACAGCTTTACACCAA	0.463													T	60150653	C	T	60150653	2	4	309	1	0	0	0	0	0	0	0	1	9942	796	28	2		2	MS4A7	11	60150653	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	55524037	60150653	74855863	34	21018											
NUMA1	4926	broad.mit.edu	37	chr11	71720101	71720101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagcctgctgtagctcaTggcccagccgttcagcttca	6	9	10	16	1	3	0	3	0	0	0	3	0	3	0	4	1	5	5	4	1	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr11:71720101T>C	ENST00000393695.3	-	19	5301	c.4970A>G	c.(4969-4971)cAt>cGt	p.H1657R	NUMA1_ENST00000351960.6_Missense_Mutation_p.H521R|NUMA1_ENST00000358965.6_Missense_Mutation_p.H1643R	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1657					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGTAGCTCATGGCCCAGCCG	0.592			T	RARA	APL								C	71720101	T	C	71720101	3	2	309	1	0	0	0	0	1	0	0	0	10826	1464	51	3	1413	3	NUMA1	11	71720101	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	11569448	71720101	63286415	35	21019											
RPAP3	79657	broad.mit.edu	37	chr12	48096531	48096531	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttgtttaatgtctttttcCcagttttctaaatcccgcat	7	21	4	9	1	2	0	0	0	2	0	4	0	4	0	2	0	0	3	2	0	3	9			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:48096531C>T	ENST00000005386.3	-	2	208	c.93G>A	c.(91-93)tgG>tgA	p.W31*	RPAP3_ENST00000432584.3_Intron|RPAP3_ENST00000380650.4_Nonsense_Mutation_p.W31*	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	31							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TGTCTTTTTCCCAGTTTTCTA	0.323													T	48096531	C	T	48096531	4	4	309	1	0	0	0	0	0	1	0	0	13634	624	22	2	1968	2	RPAP3	12	48096531	Nonsense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		48096531	85755364	36	21020											
MBD6	114785	broad.mit.edu	37	chr12	57919602	57919602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccccgcccaccctggtcCtgcctctcagccaccagtgt	4	9	7	21	1	2	0	1	0	2	0	5	0	3	0	8	1	2	0	8	1	0	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:57919602C>T	ENST00000355673.3	+	6	1207	c.851C>T	c.(850-852)cCt>cTt	p.P284L	MBD6_ENST00000431731.2_Missense_Mutation_p.P284L	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	284	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CACCCTGGTCCTGCCTCTCAG	0.672													T	57919602	C	T	57919602	3	4	309	1	0	0	0	0	1	0	0	0	9423	681	24	2	865	2	MBD6	12	57919602	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	9823071	57919602	75932293	37	21021											
SRGAP1	57522	broad.mit.edu	37	chr12	64437269	64437269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataagctaaaatcaattaagGcacggaacgaatatctccta	18	9	6	8	2	2	0	1	0	1	0	3	2	2	1	1	2	2	2	1	2	9	5			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:64437269G>A	ENST00000355086.3	+	6	1239	c.715G>A	c.(715-717)Gca>Aca	p.A239T	SRGAP1_ENST00000357825.3_Missense_Mutation_p.A239T|SRGAP1_ENST00000543397.1_Missense_Mutation_p.A199T|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	239					axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAATTAAGGCACGGAACGA	0.348													A	64437269	G	A	64437269	3	1	309	1	0	0	0	0	1	0	0	0	15241	1203	42	2	737	2	SRGAP1	12	64437269	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	6517667	64437269	69414626	38	21022											
PTPRR	5801	broad.mit.edu	37	chr12	71286551	71286551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgagagacgggtcatatgCgggtctaggaaatgctgaat	12	10	14	5	2	2	3	1	2	1	1	2	5	2	4	0	3	2	1	0	3	4	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:71286551C>T	ENST00000283228.2	-	2	717	c.265G>A	c.(265-267)Gca>Aca	p.A89T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	89					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GGGTCATATGCGGGTCTAGGA	0.453													T	71286551	C	T	71286551	3	4	309	1	0	0	0	0	1	0	0	0	12898	768	27	1	1760	1	PTPRR	12	71286551	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	6849282	71286551	62565344	39	21023											
NAP1L1	4673	broad.mit.edu	37	chr12	76453623	76453623	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccattcacattcttcttcCgtaggttcataaattgcatt	9	18	4	10	1	4	0	2	0	2	0	6	0	6	0	2	1	1	3	2	1	3	10			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr12:76453623C>T	ENST00000261182.8	-	6	870	c.384G>A	c.(382-384)acG>acA	p.T128T	NAP1L1_ENST00000548044.1_Silent_p.T87T|NAP1L1_ENST00000431879.3_Intron|NAP1L1_ENST00000393263.3_Silent_p.T128T|NAP1L1_ENST00000552342.1_Silent_p.T128T|NAP1L1_ENST00000544816.1_5'UTR|NAP1L1_ENST00000547773.1_Silent_p.T65T|NAP1L1_ENST00000542344.1_Silent_p.T87T|NAP1L1_ENST00000535020.2_Silent_p.T128T|NAP1L1_ENST00000549596.1_Silent_p.T128T	NM_004537.4|NM_139207.2	NP_004528.1|NP_631946.1	P55209	NP1L1_HUMAN	nucleosome assembly protein 1-like 1	128					DNA replication|nucleosome assembly|positive regulation of cell proliferation	chromatin assembly complex|melanosome	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	9		Colorectal(145;0.09)				ATTCTTCTTCCGTAGGTTCAT	0.308													T	76453623	C	T	76453623	2	4	309	1	0	0	0	0	0	0	0	1	10232	639	23	1		1	NAP1L1	12	76453623	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08	5167072	76453623	57398272	40	21024											
FLT1	2321	broad.mit.edu	37	chr13	29008225	29008225	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgagatagtttgtcttatAcaaatgcccattgactgttg	10	16	9	6	0	1	2	0	2	1	1	1	3	1	2	1	0	2	2	1	0	4	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr13:29008225A>G	ENST00000282397.4	-	5	897	c.646T>C	c.(646-648)Tat>Cat	p.Y216H	FLT1_ENST00000541932.1_Missense_Mutation_p.Y216H|FLT1_ENST00000539099.1_Missense_Mutation_p.Y216H	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	216					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	TTTGTCTTATACAAATGCCCA	0.388													G	29008225	A	G	29008225	3	3	309	1	0	0	0	0	1	0	0	0	5990	391	14	3	3737	3	FLT1	13	29008225	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		29008225	86161653	41	21025											
IPO4	79711	broad.mit.edu	37	chr14	24652223	24652223	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcacgccacagagctcagCgaggcgcccagggggcttca	9	3	15	14	3	2	1	2	0	0	1	2	3	2	1	2	3	3	3	2	3	0	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:24652223C>A	ENST00000354464.6	-	23	2556	c.2380G>T	c.(2380-2382)Gct>Tct	p.A794S	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	794					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CAGAGCTCAGCGAGGCGCCCA	0.687													A	24652223	C	A	24652223	3	1	309	1	0	0	0	0	1	0	0	0	7853	768	27	4	897	4	IPO4	14	24652223	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		24652223	82697317	42	21026											
TTLL5	23093	broad.mit.edu	37	chr14	76241856	76241856	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtttcctcaagcgagcAtcaaataacctccagcattc	11	11	6	13	2	2	0	2	0	0	0	6	1	4	0	3	0	4	4	3	0	3	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:76241856A>G	ENST00000298832.9	+	22	2371	c.2166A>G	c.(2164-2166)gcA>gcG	p.A722A	TTLL5_ENST00000556893.1_Silent_p.A273A|TTLL5_ENST00000557636.1_Silent_p.A736A|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Silent_p.A231A	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	722					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TCAAGCGAGCATCAAATAACC	0.463													G	76241856	A	G	76241856	2	3	309	1	0	0	0	0	0	0	0	1	16832	204	8	3		3	TTLL5	14	76241856	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08	51589633	76241856	31107684	43	21027											
BDKRB2	624	broad.mit.edu	37	chr14	96706767	96706767	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctcaatgtcaccttgcaAgggcccactcttaacgggac	10	9	9	13	1	3	0	2	0	1	0	3	1	3	1	2	2	3	2	2	2	3	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr14:96706767A>G	ENST00000542454.2	+	3	3109	c.21A>G	c.(19-21)caA>caG	p.Q7Q	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000306005.3_Silent_p.Q34Q|BDKRB2_ENST00000539359.1_Silent_p.Q7Q|BDKRB2_ENST00000554311.1_Silent_p.Q34Q			P30411	BKRB2_HUMAN	bradykinin receptor B2	34					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		TCACCTTGCAAGGGCCCACTC	0.567													G	96706767	A	G	96706767	2	3	309	1	0	0	0	0	0	0	0	1	1398	69	3	3		3	BDKRB2	14	96706767	Silent	SNP	A	TCGA-DB-5277-01A-01D-1468-08	20464911	96706767	10642773	44	21028											
ELL3	80237	broad.mit.edu	37	chr15	44068328	44068328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaggcaggaccaacCagggcctgggagtctcagat	12	4	16	9	0	1	3	1	0	1	3	2	6	1	5	3	5	1	1	3	5	2	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:44068328C>T	ENST00000319359.3	-	3	831	c.190G>A	c.(190-192)Ggt>Agt	p.G64S	RP11-296A16.1_ENST00000417761.2_3'UTR	NM_025165.2	NP_079441.1	Q9HB65	ELL3_HUMAN	elongation factor RNA polymerase II-like 3	64					positive regulation of transcription elongation, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				cervix(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(1)	13		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;7.81e-07)		CAGGACCAACCAGGGCCTGGG	0.632													T	44068328	C	T	44068328	3	4	309	1	0	0	0	0	1	0	0	0	5105	594	21	2	1039	2	ELL3	15	44068328	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		44068328	58463064	45	21029											
FBN1	2200	broad.mit.edu	37	chr15	48729544	48729544	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaatcatcaggtcccacGatgatcccacttccataagg	11	9	8	13	1	2	2	2	2	0	0	5	3	5	2	3	2	0	1	3	2	2	2	rs112989722		TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr15:48729544G>T	ENST00000316623.5	-	52	6809	c.6354C>A	c.(6352-6354)atC>atA	p.I2118I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2118					heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGGTCCCACGATGATCCCAC	0.423													T	48729544	G	T	48729544	2	4	309	1	0	0	0	0	0	0	0	1	5751	1048	37	4		4	FBN1	15	48729544	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	4661216	48729544	53801848	46	21030											
ZC3H7A	29066	broad.mit.edu	37	chr16	11857362	11857362	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttgcattatccagactttCagttccacaagactatgggc	10	14	7	10	0	1	2	1	0	0	2	3	2	3	2	2	1	1	2	2	1	3	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr16:11857362C>G	ENST00000396516.2	-	15	2171	c.1974G>C	c.(1972-1974)ctG>ctC	p.L658L	ZC3H7A_ENST00000355758.4_Silent_p.L658L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	658						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						TCCAGACTTTCAGTTCCACAA	0.418													G	11857362	C	G	11857362	2	3	309	1	0	0	0	0	0	0	0	1	17673	813	29	4		4	ZC3H7A	16	11857362	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08		11857362	78497391	47	21031											
PELP1	27043	broad.mit.edu	37	chr17	4578457	4578457	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggggaagcaggcggccgatCaggatcccaaagcgcaagag	12	3	16	10	3	1	1	1	0	0	1	2	4	2	3	2	5	2	2	2	5	3	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:4578457C>G	ENST00000301396.4	-	11	1848	c.1623G>C	c.(1621-1623)ctG>ctC	p.L541L	PELP1_ENST00000269230.7_Silent_p.L395L|PELP1_ENST00000574876.1_Silent_p.L397L|PELP1_ENST00000572293.1_Silent_p.L447L|PELP1_ENST00000436683.2_Silent_p.L250L			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	397					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						GGCGGCCGATCAGGATCCCAA	0.607													G	4578457	C	G	4578457	2	3	309	1	0	0	0	0	0	0	0	1	11801	813	29	4		4	PELP1	17	4578457	Silent	SNP	C	TCGA-DB-5277-01A-01D-1468-08		4578457	76616753	48	21032											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	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 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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			C	7577574	T	C	7577574	3	2	309	1	0	0	0	0	1	0	0	0	16482	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	2999117	7577574	73617636	49	21033											
MYH13	8735	broad.mit.edu	37	chr17	10213033	10213033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccgctggctgtttctttTtagctgctcgatttcttcat	3	19	8	11	2	3	0	1	0	2	0	4	1	3	0	1	1	3	5	1	1	1	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:10213033T>C	ENST00000418404.3	-	33	4934	c.4771A>G	c.(4771-4773)Aaa>Gaa	p.K1591E	MYH13_ENST00000252172.4_Missense_Mutation_p.K1591E|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1591					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTGTTTCTTTTTAGCTGCTCG	0.562													C	10213033	T	C	10213033	3	2	309	1	0	0	0	0	1	0	0	0	10108	1850	64	3	1077	3	MYH13	17	10213033	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	2635459	10213033	70982177	50	21034											
NCOR1	9611	broad.mit.edu	37	chr17	15974805	15974805	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgagttaaaatatctTgccttggaatctcatgaatg	11	16	7	7	0	2	2	1	2	2	0	4	3	3	3	2	1	1	1	2	1	5	5			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:15974805T>C	ENST00000268712.3	-	30	4327	c.4070A>G	c.(4069-4071)cAa>cGa	p.Q1357R	NCOR1_ENST00000395851.1_Missense_Mutation_p.Q1373R|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1357	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TAAAATATCTTGCCTTGGAAT	0.453													C	15974805	T	C	15974805	3	2	309	1	0	0	0	0	1	0	0	0	10311	1812	63	3	3320	3	NCOR1	17	15974805	Missense_Mutation	SNP	T	TCGA-DB-5277-01A-01D-1468-08	5761772	15974805	65220405	51	21035											
ACLY	47	broad.mit.edu	37	chr17	40030158	40030158	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcgtagatgagctcctGtcctcgctcatcgcagatgc	6	9	11	15	4	1	3	1	1	0	2	5	3	3	3	3	0	2	4	3	0	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:40030158G>A	ENST00000352035.2	-	23	2678	c.2548C>T	c.(2548-2550)Cag>Tag	p.Q850*	ACLY_ENST00000537919.1_Nonsense_Mutation_p.Q579*|ACLY_ENST00000393896.2_Nonsense_Mutation_p.Q840*|ACLY_ENST00000590151.1_Nonsense_Mutation_p.Q850*|ACLY_ENST00000353196.1_Nonsense_Mutation_p.Q840*	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	850					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				ATGAGCTCCTGTCCTCGCTCA	0.592													A	40030158	G	A	40030158	4	1	309	1	0	0	0	0	0	1	0	0	143	1386	48	2	785	2	ACLY	17	40030158	Nonsense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	24055353	40030158	41165052	52	21036											
LPO	4025	broad.mit.edu	37	chr17	56344812	56344812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggccaagaagttactggGtctctacgggacccctgaca	9	8	12	12	1	1	2	0	1	1	1	2	3	1	3	3	3	2	2	3	3	4	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56344812G>A	ENST00000262290.4	+	12	2112	c.1796G>A	c.(1795-1797)gGt>gAt	p.G599D	LPO_ENST00000421678.2_Missense_Mutation_p.G516D|LPO_ENST00000543544.1_Missense_Mutation_p.G540D|LPO_ENST00000582328.1_Missense_Mutation_p.G516D	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	599					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						AAGTTACTGGGTCTCTACGGG	0.572													A	56344812	G	A	56344812	3	1	309	1	0	0	0	0	1	0	0	0	8992	1261	44	2	1838	2	LPO	17	56344812	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08	16314654	56344812	24850398	53	21037											
MPO	4353	broad.mit.edu	37	chr17	56355208	56355208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccaggaagcaggggatgCgcgctgagcggttggtgagg	7	6	20	8	3	0	2	0	2	0	0	0	4	0	4	1	6	4	3	1	6	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:56355208C>T	ENST00000340482.3	-	6	1456	c.1280G>A	c.(1279-1281)cGc>cAc	p.R427H	MPO_ENST00000225275.3_Missense_Mutation_p.R395H|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	395					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GCAGGGGATGCGCGCTGAGCG	0.617													T	56355208	C	T	56355208	3	4	309	1	0	0	0	0	1	0	0	0	9808	768	27	1	1077	1	MPO	17	56355208	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	10396	56355208	24840002	54	21038											
ZNF750	79755	broad.mit.edu	37	chr17	80789719	80789719	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggctttccaggggtaGccaggagtgtggaaggccga	8	6	18	9	2	0	0	0	0	0	0	1	4	1	2	4	6	2	2	4	6	2	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr17:80789719G>C	ENST00000269394.3	-	2	1445	c.612C>G	c.(610-612)ggC>ggG	p.G204G	TBCD_ENST00000397466.2_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	204						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TCCAGGGGTAGCCAGGAGTGT	0.577													C	80789719	G	C	80789719	2	2	309	1	0	0	0	0	0	0	0	1	18232	958	34	4		4	ZNF750	17	80789719	Silent	SNP	G	TCGA-DB-5277-01A-01D-1468-08	24434511	80789719	405491	55	21039											
MOCOS	55034	broad.mit.edu	37	chr18	33785151	33785151	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtgcggatttacagcgAttctgagttcagcagccctg	7	12	13	9	2	2	1	1	1	1	0	2	3	2	2	1	2	5	2	1	2	1	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr18:33785151A>T	ENST00000261326.5	+	6	1151	c.1130A>T	c.(1129-1131)gAt>gTt	p.D377V		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	377					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	ATTTACAGCGATTCTGAGTTC	0.498													T	33785151	A	T	33785151	3	4	309	1	0	0	0	0	1	0	0	0	9765	333	12	5	1152	5	MOCOS	18	33785151	Missense_Mutation	SNP	A	TCGA-DB-5277-01A-01D-1468-08		33785151	44292097	56	21040											
MATK	4145	broad.mit.edu	37	chr19	3784173	3784173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctcccgctcccgcagcGccccagctgccagcagcccc	4	3	11	23	3	0	0	0	0	0	0	2	0	2	0	8	1	5	4	8	1	0	0			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:3784173G>A	ENST00000310132.6	-	5	709	c.311C>T	c.(310-312)gCg>gTg	p.A104V	MATK_ENST00000395045.2_Missense_Mutation_p.A105V|MATK_ENST00000585778.1_Missense_Mutation_p.A104V|MATK_ENST00000395040.2_Missense_Mutation_p.A63V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	104	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCCGCAGCGCCCCAGCTGC	0.682													A	3784173	G	A	3784173	3	1	309	1	0	0	0	0	1	0	0	0	9407	1087	38	1	1252	1	MATK	19	3784173	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		3784173	55344810	57	21041											
CIB3	117286	broad.mit.edu	37	chr19	16280488	16280488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtagggcaccttcacatCggggcaggtggtatagtcga	8	9	14	10	3	1	0	1	0	0	0	4	1	1	0	1	5	0	4	1	5	3	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:16280488C>T	ENST00000269878.4	-	3	200	c.151G>A	c.(151-153)Gat>Aat	p.D51N	CIB3_ENST00000541493.1_Intron|CIB3_ENST00000379859.3_Intron	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	51							calcium ion binding	p.D51N(1)		cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						ACCTTCACATCGGGGCAGGTG	0.562													T	16280488	C	T	16280488	3	4	309	1	0	0	0	0	1	0	0	0	3452	884	31	1	428	1	CIB3	19	16280488	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	12496315	16280488	42848495	58	21042											
SBSN	374897	broad.mit.edu	37	chr19	36015811	36015811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgatggctggaagatcCgctttgatggttgccctgtg	5	14	13	9	1	0	3	0	2	0	1	2	4	2	4	3	3	1	3	3	3	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr19:36015811C>T	ENST00000452271.2	-	2	1682	c.1654G>A	c.(1654-1656)Gga>Aga	p.G552R	SBSN_ENST00000518157.1_Missense_Mutation_p.G209R	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	209						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CTGGAAGATCCGCTTTGATGG	0.612													T	36015811	C	T	36015811	3	4	309	1	0	0	0	0	1	0	0	0	13956	661	23	1	130	1	SBSN	19	36015811	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	19735323	36015811	23113172	59	21043											
ZNF343	79175	broad.mit.edu	37	chr20	2464637	2464637	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acactccctgcacaaataagGcttctcttctgaatgtgttc	10	13	6	12	0	2	1	0	1	2	0	5	1	3	1	1	1	1	3	1	1	3	4			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:2464637G>C	ENST00000278772.4	-	6	1457	c.970C>G	c.(970-972)Cct>Gct	p.P324A	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CACAAATAAGGCTTCTCTTCT	0.493													C	2464637	G	C	2464637	3	2	309	1	0	0	0	0	1	0	0	0	17959	1203	42	4	833	4	ZNF343	20	2464637	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		2464637	60560883	60	21044											
SNRPB2	6629	broad.mit.edu	37	chr20	16712312	16712312	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actccttcctttttataacaGattttttactgtctcctgaa	9	19	3	10	0	1	2	0	1	1	1	4	2	3	2	3	0	2	0	3	0	4	8			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:16712312G>C	ENST00000246071.6	+	2	181		c.e2-1		SNRPB2_ENST00000377943.5_Splice_Site|SNRPB2_ENST00000478522.1_Splice_Site	NM_003092.4	NP_003083.1	P08579	RU2B_HUMAN	small nuclear ribonucleoprotein polypeptide B							catalytic step 2 spliceosome|nucleoplasm|U2 snRNP	nucleotide binding|protein binding|RNA binding			large_intestine(2)|lung(2)|urinary_tract(1)	5						TTTTATAACAGATTTTTTACT	0.303													C	16712312	G	C	16712312	5	2	309	1	0	0	0	0	0	0	1	0	14956	956	33	4		4	SNRPB2	20	16712312	Splice_Site	SNP	G	TCGA-DB-5277-01A-01D-1468-08	14247675	16712312	46313208	61	21045											
CDH4	1002	broad.mit.edu	37	chr20	60419770	60419770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatccggtacagcatcaCgggagtgggcgccgaccagc	8	4	13	16	4	1	0	1	0	0	0	2	2	2	1	5	3	3	2	5	3	1	1			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr20:60419770C>A	ENST00000360469.5	+	5	711	c.623C>A	c.(622-624)aCg>aAg	p.T208K	CDH4_ENST00000543233.1_Missense_Mutation_p.T134K	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	208	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding	p.T208M(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TACAGCATCACGGGAGTGGGC	0.612													A	60419770	C	A	60419770	3	1	309	1	0	0	0	0	1	0	0	0	3142	536	19	4	641	4	CDH4	20	60419770	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08	43707458	60419770	2605750	62	21046											
LIPI	149998	broad.mit.edu	37	chr21	15561431	15561431	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctctattataaataaaaGttgtagcaccccggctccag	12	11	7	11	1	1	0	0	0	1	0	2	0	2	0	3	1	2	5	3	1	7	6			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:15561431G>C	ENST00000344577.2	-	2	444	c.419C>G	c.(418-420)aCt>aGt	p.T140S	LIPI_ENST00000536861.1_Missense_Mutation_p.T119S	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	119					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATAAATAAAAGTTGTAGCACC	0.363													C	15561431	G	C	15561431	3	2	309	1	0	0	0	0	1	0	0	0	8886	1029	36	4	1062	4	LIPI	21	15561431	Missense_Mutation	SNP	G	TCGA-DB-5277-01A-01D-1468-08		15561431	32568464	63	21047											
DIP2A	23181	broad.mit.edu	37	chr21	47978201	47978201	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggagcggcccaggatTgcgctgacccagtccttctc	6	7	13	15	3	1	1	0	1	1	0	3	4	2	3	4	3	2	1	4	3	0	2			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chr21:47978201T>C	ENST00000318711.7	+	32	4050	c.3867T>C	c.(3865-3867)atT>atC	p.I1289I	DIP2A_ENST00000400274.1_Silent_p.I1284I|DIP2A_ENST00000417564.2_Silent_p.I1288I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	1288					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCCCAGGATTGCGCTGACCC	0.667													C	47978201	T	C	47978201	2	2	309	1	0	0	0	0	0	0	0	1	4566	1800	63	3		3	DIP2A	21	47978201	Silent	SNP	T	TCGA-DB-5277-01A-01D-1468-08	32416770	47978201	151694	64	21048											
COL4A6	1288	broad.mit.edu	37	chrX	107454952	107454952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggtcaccttttgatcCtttctgaccaggaagcccct	8	11	9	13	0	2	2	1	2	1	0	3	4	3	3	5	2	1	0	5	2	1	3			TCGA-DB-5277-01A-01D-1468-08	TCGA-DB-5277-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ff5b06bf-99d6-4276-8646-b91ef5ed480e	54fcd6db-49a2-47d2-9086-3f7b89e39015	g.chrX:107454952C>T	ENST00000394872.2	-	8	688	c.457G>A	c.(457-459)Gga>Aga	p.G153R	COL4A6_ENST00000334504.7_Missense_Mutation_p.G154R|COL4A6_ENST00000538570.1_Missense_Mutation_p.G154R|COL4A6_ENST00000372216.4_Missense_Mutation_p.G155R|COL4A6_ENST00000545689.1_Missense_Mutation_p.G154R			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	155	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTTGATCCTTTCTGACCA	0.403									Alport syndrome with Diffuse Leiomyomatosis				T	107454952	C	T	107454952	3	4	309	1	0	0	0	0	1	0	0	0	3726	690	24	2	4768	2	COL4A6	23	107454952	Missense_Mutation	SNP	C	TCGA-DB-5277-01A-01D-1468-08		107454952	47815608	65	21049											
VANGL2	57216	broad.mit.edu	37	chr1	160389291	160389291	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcccttcttttcgtgcactAcctggccgtggtcctgctgg	2	13	11	15	3	1	0	0	0	1	0	3	0	2	0	4	3	3	2	4	3	1	4			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr1:160389291A>G	ENST00000368061.2	+	4	1166	c.692A>G	c.(691-693)tAc>tGc	p.Y231C	VANGL2_ENST00000483408.1_3'UTR	NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	231					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTCGTGCACTACCTGGCCGTG	0.647													G	160389291	A	G	160389291	3	3	310	1	0	0	0	0	1	0	0	0	17222	391	14	3	702	3	VANGL2	1	160389291	Missense_Mutation	SNP	A	TCGA-DB-5278-01A-01D-1468-08		160389291	88861330	1	21050											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220387224	220387224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatacagctttttgctctCgagctatcaccataagatca	13	12	6	10	1	3	1	2	0	1	1	4	3	3	1	1	0	4	3	1	0	4	5			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr1:220387224C>T	ENST00000358951.2	-	3	394	c.278G>A	c.(277-279)cGa>cAa	p.R93Q		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	93					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		TTTTTGCTCTCGAGCTATCAC	0.363													T	220387224	C	T	220387224	3	4	310	1	0	0	0	0	1	0	0	0	13024	884	31	1	4035	1	RAB3GAP2	1	220387224	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08	59997933	220387224	28863397	2	21051											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	310	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		209113112	34086261	3	21052											
ARPC1B	10095	broad.mit.edu	37	chr7	98987611	98987611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacaatgtgctgctggctgCcggctcctgtgacttcaagt	7	11	11	12	1	1	1	1	1	0	0	2	1	2	1	2	2	4	4	2	2	3	1			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr7:98987611C>T	ENST00000451682.1	+	7	785	c.476C>T	c.(475-477)gCc>gTc	p.A159V	ARPC1B_ENST00000252725.5_Missense_Mutation_p.A159V			O15143	ARC1B_HUMAN	actin related protein 2/3 complex, subunit 1B, 41kDa	159					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(2)|lung(1)	11	all_cancers(62;3.49e-09)|all_epithelial(64;2.57e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCTGGCTGCCGGCTCCTGT	0.632													T	98987611	C	T	98987611	3	4	310	1	0	0	0	0	1	0	0	0	975	739	26	2	490	2	ARPC1B	7	98987611	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		98987611	60151052	4	21053											
GIMAP6	474344	broad.mit.edu	37	chr7	150325310	150325310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtgtcaccaggagcaCggcgtggggccctggggcgg	5	6	19	11	3	1	0	1	0	0	0	1	1	1	1	2	7	1	2	2	7	0	1	rs138521615	byFrequency	TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr7:150325310C>T	ENST00000328902.5	-	3	592	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R51H	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	126							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ACCAGGAGCACGGCGTGGGGC	0.622													T	150325310	C	T	150325310	3	4	310	1	0	0	0	0	1	0	0	0	6439	536	19	1	506	1	GIMAP6	7	150325310	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08	51337699	150325310	8813353	5	21054											
SVIL	6840	broad.mit.edu	37	chr10	29770516	29770516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcgccggaataccttGtgctgggcaagttccccggg	5	10	14	12	3	0	0	0	0	0	0	2	1	1	1	4	4	2	3	4	4	3	4			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr10:29770516G>T	ENST00000375398.2	-	30	5546	c.5097C>A	c.(5095-5097)caC>caA	p.H1699Q	SVIL_ENST00000375400.3_Missense_Mutation_p.H1273Q|SVIL_ENST00000538146.1_Missense_Mutation_p.H491Q|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.H1699Q|SVIL_ENST00000535393.1_Missense_Mutation_p.H613Q|PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000460007.1_5'UTR|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000423223.1_RNA			O95425	SVIL_HUMAN	supervillin	1699					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGAATACCTTGTGCTGGGCAA	0.463													T	29770516	G	T	29770516	3	4	310	1	0	0	0	0	1	0	0	0	15517	1368	48	4	1591	4	SVIL	10	29770516	Missense_Mutation	SNP	G	TCGA-DB-5278-01A-01D-1468-08		29770516	105764231	6	21055											
GTSF1	121355	broad.mit.edu	37	chr12	54857017	54857017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgactaatttcagctCgaggaacctggtggcgagca	11	10	12	8	2	1	2	1	2	0	0	2	5	1	3	1	3	3	2	1	3	3	3			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr12:54857017C>A	ENST00000552397.1	-	4	1078	c.182G>T	c.(181-183)cGa>cTa	p.R61L	GTSF1_ENST00000305879.5_Missense_Mutation_p.R61L|RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_5'UTR			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	61							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				AATTTCAGCTCGAGGAACCTG	0.413													A	54857017	C	A	54857017	3	1	310	1	0	0	0	0	1	0	0	0	6941	884	31	4	341	4	GTSF1	12	54857017	Missense_Mutation	SNP	C	TCGA-DB-5278-01A-01D-1468-08		54857017	78994878	7	21056											
PARN	5073	broad.mit.edu	37	chr16	14680201	14680201	+	Frame_Shift_Del	DEL	T	T	-																															aaaacacatgttgtcatctcTttaaactcacttaagtccta																										TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr16:14680201delT	ENST00000437198.2	-	14	1077	c.936delA	c.(934-936)aaafs	p.K312fs	PARN_ENST00000341484.7_Frame_Shift_Del_p.K251fs|PARN_ENST00000539279.1_Frame_Shift_Del_p.K137fs|PARN_ENST00000420015.2_Frame_Shift_Del_p.K266fs	NM_001134477.2|NM_002582.3	NP_001127949.1|NP_002573.1	O95453	PARN_HUMAN	poly(A)-specific ribonuclease	312					female gamete generation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|RNA modification	cytosol|nucleolus	metal ion binding|mRNA 3'-UTR binding|nucleotide binding|poly(A)-specific ribonuclease activity|protein binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|urinary_tract(1)	21						TTGTCATCTCTTTAAACTCAC	0.373													-	14680201	T	-	14680201	7	5	310	1	0	1	0	1	0	0	0	0	11529	1606	56	0	1027	0	PARN	16	14680201	Frame_Shift_Del	DEL	T	TCGA-DB-5278-01A-01D-1468-08		14680201	75674552	8	21057											
SLC7A9	11136	broad.mit.edu	37	chr19	33355655	33355655	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatgatggtgcccacgaTgatggagatgccactgatga	11	8	13	9	1	0	5	0	4	0	1	0	7	0	5	3	2	2	0	3	2	1	0			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:33355655T>G	ENST00000023064.4	-	3	306	c.115A>C	c.(115-117)Atc>Ctc	p.I39L	SLC7A9_ENST00000590341.1_Missense_Mutation_p.I39L|SLC7A9_ENST00000587772.1_Missense_Mutation_p.I39L	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	39					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GTGCCCACGATGATGGAGATG	0.622													G	33355655	T	G	33355655	3	3	310	1	0	0	0	0	1	0	0	0	14799	1464	51	5	1392	5	SLC7A9	19	33355655	Missense_Mutation	SNP	T	TCGA-DB-5278-01A-01D-1468-08		33355655	25773328	9	21058											
CIC	23152	broad.mit.edu	37	chr19	42791743	42791743	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaatgccttcatgatctTcagcaagcggcaccgggccc	9	8	10	14	2	3	2	2	2	1	0	3	2	3	2	3	2	3	2	3	2	2	2			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42791743T>G	ENST00000572681.2	+	6	3424	c.3356T>G	c.(3355-3357)tTc>tGc	p.F1119C	CIC_ENST00000575354.2_Missense_Mutation_p.F210C|CIC_ENST00000160740.3_Missense_Mutation_p.F210C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	210	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCATGATCTTCAGCAAGCGG	0.627			"Mis, F, S"		oligodendroglioma								G	42791743	T	G	42791743	3	3	310	1	0	0	0	0	1	0	0	0	3454	1783	62	5	647	5	CIC	19	42791743	Missense_Mutation	SNP	T	TCGA-DB-5278-01A-01D-1468-08	9436088	42791743	16337240	10	21059											
CIC	23152	broad.mit.edu	37	chr19	42799060	42799060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagatccgtgaggtgcGccagaagatcatgcaggctg	10	8	15	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-DB-5278-01A-01D-1468-08	TCGA-DB-5278-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6847e993-1414-4e6f-a2af-39ebe218dd7c	80b03480-5d28-481e-a447-59140d82f1f8	g.chr19:42799060G>A	ENST00000572681.2	+	21	7330	c.7262G>A	c.(7261-7263)cGc>cAc	p.R2421H	CIC_ENST00000575354.2_Missense_Mutation_p.R1515H|CIC_ENST00000160740.3_Missense_Mutation_p.R1513H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R1515L(1)|p.R1515H(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGTGAGGTGCGCCAGAAGATC	0.632			"Mis, F, S"		oligodendroglioma								A	42799060	G	A	42799060	3	1	310	1	0	0	0	0	1	0	0	0	3454	1087	38	1	4622	1	CIC	19	42799060	Missense_Mutation	SNP	G	TCGA-DB-5278-01A-01D-1468-08	7317	42799060	16329923	11	21060											
LRRC7	57554	broad.mit.edu	37	chr1	70504174	70504174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaccagaacccctagtccGtttgaagacaggaccgcttt	10	9	10	12	2	0	3	0	1	0	2	1	5	1	5	5	2	1	2	5	2	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:70504174G>A	ENST00000310961.5	+	22	2986	c.2568G>A	c.(2566-2568)ccG>ccA	p.P856P	LRRC7_ENST00000415775.2_Silent_p.P135P|LRRC7_ENST00000035383.5_Silent_p.P851P			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	851						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCCCTAGTCCGTTTGAAGACA	0.478													A	70504174	G	A	70504174	2	1	311	1	0	0	0	0	0	0	0	1	9090	1132	40	1		1	LRRC7	1	70504174	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		70504174	178746447	1	21061											
NEGR1	257194	broad.mit.edu	37	chr1	72748110	72748110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtagcaggcagcacaggCtgaggagcaccgccgccagc	10	2	16	13	2	0	1	0	1	0	0	0	2	0	2	3	4	4	6	3	4	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:72748110C>T	ENST00000357731.5	-	1	307	c.68G>A	c.(67-69)aGc>aAc	p.S23N	NEGR1_ENST00000434200.1_Missense_Mutation_p.S21N	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1						cell adhesion	anchored to membrane|plasma membrane		p.S23N(1)		endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		GCAGCACAGGCTGAGGAGCAC	0.627													T	72748110	C	T	72748110	3	4	311	1	0	0	0	0	1	0	0	0	10393	797	28	2	1024	2	NEGR1	1	72748110	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2243936	72748110	176502511	2	21062											
ENSA	2029	broad.mit.edu	37	chr1	150599964	150599964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctttctggagtctcttcatGaggaagtcggagcctccagg	7	11	12	11	1	3	1	1	1	2	0	6	4	4	4	3	4	1	0	3	4	1	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:150599964G>A	ENST00000271690.8	-	2	268	c.162C>T	c.(160-162)ctC>ctT	p.L54L	ENSA_ENST00000356527.5_Silent_p.L54L|ENSA_ENST00000369014.5_Silent_p.L54L|ENSA_ENST00000339643.5_Silent_p.L54L|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000361631.5_Silent_p.L50L|ENSA_ENST00000513281.1_Silent_p.L50L|ENSA_ENST00000361532.5_Silent_p.L50L|ENSA_ENST00000369016.4_Silent_p.L54L|ENSA_ENST00000503241.1_Silent_p.L54L|ENSA_ENST00000369009.3_Silent_p.L54L|ENSA_ENST00000503345.1_Silent_p.L54L|ENSA_ENST00000362052.7_Silent_p.L54L	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	54					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			GTCTCTTCATGAGGAAGTCGG	0.493													A	150599964	G	A	150599964	2	1	311	1	0	0	0	0	0	0	0	1	5177	1277	45	2		2	ENSA	1	150599964	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	77851854	150599964	98650657	3	21063											
FCRL5	83416	broad.mit.edu	37	chr1	157491079	157491079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaccgggcgagacaccGgaactgaaagagaacaaaaa	18	2	13	8	3	0	4	0	2	0	2	0	8	0	6	2	3	2	0	2	3	5	0	rs142943534		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:157491079G>A	ENST00000361835.3	-	11	2400	c.2243C>T	c.(2242-2244)cCg>cTg	p.P748L	FCRL5_ENST00000356953.4_Missense_Mutation_p.P748L|FCRL5_ENST00000461387.1_5'UTR	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	748						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				GCGAGACACCGGAACTGAAAG	0.498													A	157491079	G	A	157491079	3	1	311	1	0	0	0	0	1	0	0	0	5847	1116	39	1	718	1	FCRL5	1	157491079	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	6891115	157491079	91759542	4	21064											
ATP1A2	477	broad.mit.edu	37	chr1	160093040	160093040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaggacgttctggctcGagatgggcccaacgccctca	7	7	13	14	3	3	1	2	0	1	1	4	3	3	2	2	4	1	3	2	4	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:160093040G>T	ENST00000361216.3	+	4	304	c.215G>T	c.(214-216)cGa>cTa	p.R72L	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R72L	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	72					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity	p.R72L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GTTCTGGCTCGAGATGGGCCC	0.642													T	160093040	G	T	160093040	3	4	311	1	0	0	0	0	1	0	0	0	1134	1058	37	4	229	4	ATP1A2	1	160093040	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	2601961	160093040	89157581	5	21065											
XPR1	9213	broad.mit.edu	37	chr1	180804077	180804077	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggctggcggatcagctgaAcagcctgtcagtgatactga	9	9	13	10	1	2	3	2	3	0	0	2	4	2	4	1	3	4	2	1	3	2	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:180804077A>C	ENST00000367590.4	+	10	1400	c.1202A>C	c.(1201-1203)aAc>aCc	p.N401T	XPR1_ENST00000367589.3_Missense_Mutation_p.N401T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	401						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						GATCAGCTGAACAGCCTGTCA	0.418													C	180804077	A	C	180804077	3	2	311	1	0	0	0	0	1	0	0	0	17553	43	2	5	1240	5	XPR1	1	180804077	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	20711037	180804077	68446544	6	21066											
NCF2	4688	broad.mit.edu	37	chr1	183543623	183543623	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaccaatacgcttaccCagacacactccatcgccttg	11	8	5	17	2	1	1	1	0	0	1	3	1	2	1	4	0	2	2	4	0	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:183543623C>T	ENST00000367535.3	-	4	751	c.500G>A	c.(499-501)tGg>tAg	p.W167*	NCF2_ENST00000367536.1_Splice_Site_p.W167*|NCF2_ENST00000413720.1_Intron|NCF2_ENST00000418089.1_Intron	NM_000433.3	NP_000424.2	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	167					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						TACGCTTACCCAGACACACTC	0.463													T	183543623	C	T	183543623	5	4	311	1	0	0	0	0	0	0	1	0	10293	608	21	2	1128	2	NCF2	1	183543623	Splice_Site	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2739546	183543623	65706998	7	21067											
ESRRG	2104	broad.mit.edu	37	chr1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttaaacacttcatgaagCggcaagcctggcaggattta	12	11	9	9	1	1	1	1	1	0	0	1	2	1	2	1	3	3	2	1	3	5	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:216824353C>T	ENST00000391890.3	-	5	999	c.482G>A	c.(481-483)cGc>cAc	p.R161H	ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H|ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000408911.3_Missense_Mutation_p.R184H	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448													T	216824353	C	T	216824353	3	4	311	1	0	0	0	0	1	0	0	0	5303	768	27	1	845	1	ESRRG	1	216824353	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	33280730	216824353	32426268	8	21068											
MARK1	4139	broad.mit.edu	37	chr1	220831178	220831178	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaccgacacctcaaggTgaggagccactattaatact	14	7	9	11	1	1	2	1	1	0	1	1	4	1	3	3	2	3	1	3	2	5	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr1:220831178T>G	ENST00000366917.4	+	17	2299		c.e17+2		MARK1_ENST00000402574.1_Intron|MARK1_ENST00000366918.4_Intron			Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1						intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CACCTCAAGGTGAGGAGCCAC	0.378													G	220831178	T	G	220831178	5	3	311	1	0	0	0	0	0	0	1	0	9387	1710	59	5	2101	5	MARK1	1	220831178	Splice_Site	SNP	T	TCGA-DB-5279-01A-01D-1468-08	4006825	220831178	28419443	9	21069											
REG3G	130120	broad.mit.edu	37	chr2	79253917	79253917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctatggctccccctgctAtgccttgtttttgtcaccaa	5	14	8	14	0	1	0	1	0	0	0	2	0	2	0	5	2	2	3	5	2	3	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:79253917A>G	ENST00000272324.5	+	3	339	c.155A>G	c.(154-156)tAt>tGt	p.Y52C	REG3G_ENST00000409471.1_Missense_Mutation_p.Y52C|REG3G_ENST00000393897.2_Missense_Mutation_p.Y52C	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	52	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCCCCTGCTATGCCTTGTTT	0.542													G	79253917	A	G	79253917	3	3	311	1	0	0	0	0	1	0	0	0	13301	449	16	3	161	3	REG3G	2	79253917	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		79253917	163945456	10	21070											
NCKAP5	344148	broad.mit.edu	37	chr2	133486435	133486436	+	Frame_Shift_Ins	INS	-	-	G																															cccccagtctggaagcggctINSggcttgccattgggtcttca																										TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:133486435_133486436insG	ENST00000409261.1	-	18	5906_5907	c.5533_5534insC	c.(5533-5535)cagfs	p.Q1845fs	NCKAP5_ENST00000409213.1_Frame_Shift_Ins_p.Q526fs|NCKAP5_ENST00000317721.6_Frame_Shift_Ins_p.Q1845fs|NCKAP5_ENST00000405974.3_Frame_Shift_Ins_p.Q526fs	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1845							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TGGAAGCGGCTGGCTTGCCATT	0.545													G	133486436	-	G	133486435	7	5	311	1	0	1	1	0	0	0	0	0	10299	1580	55	0	207	0	NCKAP5	2	133486435	Frame_Shift_Ins	INS	-	TCGA-DB-5279-01A-01D-1468-08	54232518	133486435	109712938	11	21071											
SPOPL	339745	broad.mit.edu	37	chr2	139308482	139308482	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttattttaggtgcctgagGgtaaacccaaagggattaga	12	13	11	5	0	0	2	0	1	0	1	0	3	0	3	2	3	2	1	2	3	6	6			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:139308482G>A	ENST00000280098.4	+	4	589	c.210G>A	c.(208-210)agG>agA	p.R70R		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	70	MATH.					nucleus				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGTGCCTGAGGGTAAACCCAA	0.378													A	139308482	G	A	139308482	2	1	311	1	0	0	0	0	0	0	0	1	15181	1223	43	2		2	SPOPL	2	139308482	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	5822047	139308482	103890891	12	21072											
ITGA6	3655	broad.mit.edu	37	chr2	173366600	173366600	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagagaggcttacttctgAtgcatagtattgatctactt	12	15	8	6	0	2	3	0	2	2	1	2	4	2	3	0	1	3	3	0	1	6	8			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:173366600A>T	ENST00000375221.2	+	26	3535	c.3332A>T	c.(3331-3333)gAt>gTt	p.D1111V	ITGA6_ENST00000409532.1_Missense_Mutation_p.D953V|ITGA6_ENST00000409080.1_Intron|AC093818.1_ENST00000442417.1_RNA|ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000343713.4_Missense_Mutation_p.D1067V|ITGA6_ENST00000264107.7_Missense_Mutation_p.D1072V			P23229	ITA6_HUMAN	integrin, alpha 6	0					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			CTTACTTCTGATGCATAGTAT	0.383													T	173366600	A	T	173366600	3	4	311	1	0	0	0	0	1	0	0	0	7938	333	12	5	3313	5	ITGA6	2	173366600	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	34058118	173366600	69832773	13	21073											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	311	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	35746512	209113112	34086261	14	21074											
SUMF1	285362	broad.mit.edu	37	chr3	4491010	4491010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaaagacaaaggagtcGccaaacttctcagcctataa	15	8	6	12	1	2	1	2	0	1	1	4	2	2	2	3	1	2	0	3	1	5	4	rs148557574		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:4491010G>A	ENST00000272902.5	-	3	494	c.459C>T	c.(457-459)ggC>ggT	p.G153G	SUMF1_ENST00000405420.2_Silent_p.G153G|SUMF1_ENST00000383843.5_Intron|SUMF1_ENST00000534863.1_Silent_p.G153G|SUMF1_ENST00000458465.2_Intron	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	153						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CAAAGGAGTCGCCAAACTTCT	0.403													A	4491010	G	A	4491010	2	1	311	1	0	0	0	0	0	0	0	1	15481	1074	38	1		1	SUMF1	3	4491010	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		4491010	193531420	15	21075											
RBM6	10180	broad.mit.edu	37	chr3	50099412	50099412	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaagaagtctatgtgccCcaggatcctggattacctga	11	9	10	11	0	1	2	0	1	1	1	2	4	2	4	4	2	3	1	4	2	4	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:50099412C>T	ENST00000443081.1	+	15	2980	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	RBM6_ENST00000441115.1_3'UTR|RBM6_ENST00000539992.1_Silent_p.P161P|RBM6_ENST00000442092.1_Silent_p.P297P|RBM6_ENST00000266022.4_Silent_p.P819P|RBM6_ENST00000422955.1_Silent_p.P297P			P78332	RBM6_HUMAN	RNA binding motif protein 6	819					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		TCTATGTGCCCCAGGATCCTG	0.438													T	50099412	C	T	50099412	2	4	311	1	0	0	0	0	0	0	0	1	13232	610	22	2		2	RBM6	3	50099412	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	45608402	50099412	147923018	16	21076											
FXR1	8087	broad.mit.edu	37	chr3	180679280	180679280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttccatttgtatttgttGgcactaaagaaagcattgga	11	15	10	5	0	0	1	0	0	0	1	1	2	1	2	1	3	1	5	1	3	4	7			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:180679280G>T	ENST00000357559.4	+	11	1399	c.1015G>T	c.(1015-1017)Ggc>Tgc	p.G339C	FXR1_ENST00000480918.1_Missense_Mutation_p.G326C|FXR1_ENST00000491062.1_Missense_Mutation_p.G290C|FXR1_ENST00000468861.1_Missense_Mutation_p.G254C|FXR1_ENST00000305586.7_Missense_Mutation_p.G254C|FXR1_ENST00000445140.2_Missense_Mutation_p.G339C	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	339					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TGTATTTGTTGGCACTAAAGA	0.308													T	180679280	G	T	180679280	3	4	311	1	0	0	0	0	1	0	0	0	6167	1348	47	4	1057	4	FXR1	3	180679280	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	130579868	180679280	17343150	17	21077											
MCCC1	56922	broad.mit.edu	37	chr3	182759530	182759530	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaggaatcttctctccTgctgcaatctggcaatagaa	12	11	7	11	0	4	1	1	0	3	1	6	2	5	2	1	2	2	3	1	2	6	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:182759530T>C	ENST00000492597.1	-	10	1467	c.765A>G	c.(763-765)gcA>gcG	p.A255A	MCCC1_ENST00000539926.1_Silent_p.A229A|MCCC1_ENST00000265594.4_Silent_p.A364A			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	364	ATP-grasp.|Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TCTTCTCTCCTGCTGCAATCT	0.403													C	182759530	T	C	182759530	2	2	311	1	0	0	0	0	0	0	0	1	9449	1567	55	3		3	MCCC1	3	182759530	Silent	SNP	T	TCGA-DB-5279-01A-01D-1468-08	2080250	182759530	15262900	18	21078											
LRCH3	84859	broad.mit.edu	37	chr3	197559180	197559180	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcagtttggtagtaacaaAcggcggaggtaaacataatt	14	9	12	6	3	0	0	0	0	0	0	0	1	0	1	0	5	3	5	0	5	6	6			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr3:197559180A>G	ENST00000438796.2	+	8	1138	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	LRCH3_ENST00000414675.2_Missense_Mutation_p.N365S|LRCH3_ENST00000334859.4_Missense_Mutation_p.N365S|LRCH3_ENST00000425562.2_Missense_Mutation_p.N365S|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Missense_Mutation_p.N239S			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	365						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		GTAGTAACAAACGGCGGAGGT	0.408													G	197559180	A	G	197559180	3	3	311	1	0	0	0	0	1	0	0	0	9004	43	2	3	1124	3	LRCH3	3	197559180	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	14799650	197559180	463250	19	21079											
KIAA1109	84162	broad.mit.edu	37	chr4	123192264	123192264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtaatggaaaagtccGtgtgcacccctcagaactct	10	11	9	11	1	2	1	1	0	1	1	3	2	3	2	3	1	2	3	3	1	4	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr4:123192264G>A	ENST00000264501.4	+	47	7958	c.7585G>A	c.(7585-7587)Gtg>Atg	p.V2529M	KIAA1109_ENST00000388738.3_Missense_Mutation_p.V2529M|KIAA1109_ENST00000455637.1_Missense_Mutation_p.V2529M			Q2LD37	K1109_HUMAN	KIAA1109	2529					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GGAAAAGTCCGTGTGCACCCC	0.438													A	123192264	G	A	123192264	3	1	311	1	0	0	0	0	1	0	0	0	8266	1145	40	1	7763	1	KIAA1109	4	123192264	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		123192264	67962012	20	21080											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	311	1	0	0	0	0	1	0	0	0	11995	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		67589138	113326122	21	21081											
ZCCHC9	84240	broad.mit.edu	37	chr5	80607067	80607070	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															tgtggctctgtggaacatttAaagaaagattgccctgaaag																										TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:80607067_80607070delAAAG	ENST00000254037.2	+	4	3821_3824	c.666_669delAAAG	c.(664-669)ttaaagfs	p.LK222fs	ZCCHC9_ENST00000438268.2_Frame_Shift_Del_p.LK222fs|ZCCHC9_ENST00000407610.3_Frame_Shift_Del_p.LK222fs|ZCCHC9_ENST00000506458.1_3'UTR|ZCCHC9_ENST00000380199.5_Frame_Shift_Del_p.LK222fs			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	222							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		TGGAACATTTAAAGAAAGATTGCC	0.417													-	80607070	AAAG	-	80607067	7	5	311	1	0	1	0	1	0	0	0	0	17696	359	13	0	680	0	ZCCHC9	5	80607067	Frame_Shift_Del	DEL	AAAG	TCGA-DB-5279-01A-01D-1468-08	13017929	80607067	100308193	22	21082											
TMCO6	55374	broad.mit.edu	37	chr5	140024213	140024214	+	Frame_Shift_Ins	INS	-	-	G																															cctgcttactgccagcggctINSgtggccagggcccctgcttc																								rs4147626		TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140024213_140024214insG	ENST00000394671.3	+	11	1357_1358	c.1256_1257insG	c.(1255-1260)ctgtggfs	p.W420fs	NDUFA2_ENST00000510680.1_Intron|TMCO6_ENST00000537378.1_Frame_Shift_Ins_p.W180fs|TMCO6_ENST00000252100.6_Frame_Shift_Ins_p.W426fs	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	420					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCCAGCGGCTGTGGCCAGGGC	0.51													G	140024214	-	G	140024213	7	5	311	1	0	1	1	0	0	0	0	0	16100	1580	55	0	1298	0	TMCO6	5	140024213	Frame_Shift_Ins	INS	-	TCGA-DB-5279-01A-01D-1468-08	59417146	140024213	40891047	23	21083											
PCDHB3	56132	broad.mit.edu	37	chr5	140481839	140481839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgtgggcgccacagacCgtggctccccggctttgagc	4	7	14	16	5	0	2	0	1	0	1	2	2	2	2	5	3	1	2	5	3	0	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140481839C>T	ENST00000231130.2	+	1	1606	c.1606C>T	c.(1606-1608)Cgt>Tgt	p.R536C		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		536	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCCACAGACCGTGGCTCCCC	0.672													T	140481839	C	T	140481839	3	4	311	1	0	0	0	0	1	0	0	0	11619	652	23	1	1608	1	PCDHB3	5	140481839	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	457626	140481839	40433421	24	21084											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711827	140711827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgactatgagcagttcCgggacatgcaactgaaagtg	11	9	11	10	2	0	2	0	2	0	0	2	4	1	3	2	1	3	3	2	1	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:140711827C>T	ENST00000517417.1	+	1	1576	c.1576C>T	c.(1576-1578)Cgg>Tgg	p.R526W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.R526W	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAGCAGTTCCGGGACATGCA	0.587													T	140711827	C	T	140711827	3	4	311	1	0	0	0	0	1	0	0	0	11626	643	23	1	1578	1	PCDHGA1	5	140711827	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	229988	140711827	40203433	25	21085											
GRPEL2	134266	broad.mit.edu	37	chr5	148727842	148727842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctgttttaggggatggCcgcttccattcagcactgcc	5	13	10	13	1	1	0	1	0	0	0	3	1	3	1	4	3	2	3	4	3	1	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr5:148727842C>T	ENST00000329271.3	+	2	195	c.85C>T	c.(85-87)Ccg>Tcg	p.P29S	GRPEL2_ENST00000513661.1_Missense_Mutation_p.P29S|GRPEL2_ENST00000507562.1_3'UTR|GRPEL2-AS1_ENST00000521295.1_RNA|GRPEL2_ENST00000416916.2_Missense_Mutation_p.P29S	NM_152407.3	NP_689620.2	Q8TAA5	GRPE2_HUMAN	GrpE-like 2, mitochondrial (E. coli)	29					protein folding	mitochondrial matrix	adenyl-nucleotide exchange factor activity|chaperone binding|protein homodimerization activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAGGGGATGGCCGCTTCCATT	0.517													T	148727842	C	T	148727842	3	4	311	1	0	0	0	0	1	0	0	0	6862	739	26	2	91	2	GRPEL2	5	148727842	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8016015	148727842	32187418	26	21086											
NEDD9	4739	broad.mit.edu	37	chr6	11190997	11190997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtactggagaaagAcaatcggttgatcccatcca	11	9	10	11	1	0	3	0	1	0	2	3	4	2	3	3	2	2	3	3	2	3	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:11190997A>G	ENST00000379446.5	-	5	1271	c.1105T>C	c.(1105-1107)Tct>Cct	p.S369P	NEDD9_ENST00000504387.1_Missense_Mutation_p.S369P|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	369					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			CTGGAGAAAGACAATCGGTTG	0.547													G	11190997	A	G	11190997	3	3	311	1	0	0	0	0	1	0	0	0	10389	275	10	3	1411	3	NEDD9	6	11190997	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		11190997	159924070	27	21087											
GPX6	257202	broad.mit.edu	37	chr6	28472105	28472105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttaggtactccaggatGtctgacttgactgtgctgac	7	14	11	9	0	1	3	0	3	1	0	2	4	2	4	1	2	3	3	1	2	2	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:28472105G>A	ENST00000474923.1	-	4	573	c.530C>T	c.(529-531)aCa>aTa	p.T177I	GPX6_ENST00000361902.1_Silent_p.D210D			P59796	GPX6_HUMAN	glutathione peroxidase 6 (olfactory)	0					response to oxidative stress	extracellular region	glutathione peroxidase activity			NS(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Glutathione(DB00143)	ACTCCAGGATGTCTGACTTGA	0.502													A	28472105	G	A	28472105	3	1	311	1	0	0	0	0	1	0	0	0	6799	1368	48	2	39	2	GPX6	6	28472105	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	17281108	28472105	142642962	28	21088											
ABCC10	89845	broad.mit.edu	37	chr6	43400462	43400462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcagcctcaggacatttgCcgcctcccccacagactgca	8	6	9	18	2	1	1	1	0	0	1	2	2	2	2	5	2	3	2	5	2	0	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:43400462C>T	ENST00000244533.3	+	1	974	c.615C>T	c.(613-615)tgC>tgT	p.C205C	ABCC10_ENST00000443426.2_Intron|ABCC10_ENST00000372530.4_Silent_p.C248C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	248						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.C205C(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			AGGACATTTGCCGCCTCCCCC	0.642													T	43400462	C	T	43400462	2	4	311	1	0	0	0	0	0	0	0	1	50	747	26	2		2	ABCC10	6	43400462	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	14928357	43400462	127714605	29	21089											
PAQR8	85315	broad.mit.edu	37	chr6	52268301	52268301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgcgattctgggcctttgCcgaggctgaggccttgccat	4	12	13	12	2	1	1	0	1	1	0	1	3	1	1	4	3	3	1	4	3	0	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:52268301C>T	ENST00000442253.2	+	2	464	c.290C>T	c.(289-291)gCc>gTc	p.A97V	PAQR8_ENST00000360726.3_Missense_Mutation_p.A97V	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	97					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TGGGCCTTTGCCGAGGCTGAG	0.572													T	52268301	C	T	52268301	3	4	311	1	0	0	0	0	1	0	0	0	11517	739	26	2	292	2	PAQR8	6	52268301	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8867839	52268301	118846766	30	21090											
SIM1	6492	broad.mit.edu	37	chr6	100841631	100841631	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaaaactgtctgtaggcGcacgatgcgtcgtgctggga	8	9	14	10	5	1	0	0	0	1	0	3	3	2	1	1	2	3	3	1	2	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr6:100841631G>A	ENST00000369208.3	-	11	2084	c.1302C>T	c.(1300-1302)tgC>tgT	p.C434C	SIM1_ENST00000262901.4_Silent_p.C434C			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	434	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GTCTGTAGGCGCACGATGCGT	0.617													A	100841631	G	A	100841631	2	1	311	1	0	0	0	0	0	0	0	1	14417	1079	38	1		1	SIM1	6	100841631	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	48573330	100841631	70273436	31	21091											
SLA	6503	broad.mit.edu	37	chr8	134050855	134050855	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagatgcttttcttctttcGatcaaaggaggtgttgtcct	7	16	11	7	1	3	1	1	0	2	1	5	4	4	2	1	3	1	2	1	3	1	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr8:134050855G>A	ENST00000338087.5	-	9	1564	c.745C>T	c.(745-747)Cga>Tga	p.R249*	TG_ENST00000542445.1_Intron|TG_ENST00000377869.1_Intron|SLA_ENST00000524345.1_Nonsense_Mutation_p.R141*|SLA_ENST00000517648.1_Nonsense_Mutation_p.R222*|SLA_ENST00000427060.2_Nonsense_Mutation_p.R289*|TG_ENST00000519543.1_Intron|SLA_ENST00000395352.3_Nonsense_Mutation_p.R266*|TG_ENST00000220616.4_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	249	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			TTCTTCTTTCGATCAAAGGAG	0.498													A	134050855	G	A	134050855	4	1	311	1	0	0	0	0	0	1	0	0	14457	1066	37	1	89	1	SLA	8	134050855	Nonsense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08		134050855	12313167	32	21092											
JAK2	3717	broad.mit.edu	37	chr9	5090496	5090496	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttaccatatggaagtttaCgagactatcttcaaaaacat	16	13	5	7	1	2	1	1	0	1	1	2	3	2	2	1	1	3	1	1	1	7	7			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:5090496C>T	ENST00000381652.3	+	21	3306	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	JAK2_ENST00000539801.1_Nonsense_Mutation_p.R938*|JAK2_ENST00000544510.1_Nonsense_Mutation_p.R789*	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	938	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TGGAAGTTTACGAGACTATCT	0.313		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				T	5090496	C	T	5090496	4	4	311	1	0	0	0	0	0	1	0	0	7996	528	19	1	2886	1	JAK2	9	5090496	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		5090496	136122935	33	21093											
CKS2	1164	broad.mit.edu	37	chr9	91926227	91926227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggcccacaagcagatctActactcggacaagtacttcg	12	8	9	12	2	1	1	0	0	1	1	3	3	1	2	1	2	4	2	1	2	5	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:91926227A>G	ENST00000314355.6	+	1	115	c.20A>G	c.(19-21)tAc>tGc	p.Y7C		NM_001827.1	NP_001818.1	P33552	CKS2_HUMAN	CDC28 protein kinase regulatory subunit 2	7					cell division|cell proliferation|phosphatidylinositol-mediated signaling|regulation of cyclin-dependent protein kinase activity|spindle organization		cyclin-dependent protein kinase regulator activity			kidney(1)|large_intestine(1)	2						AAGCAGATCTACTACTCGGAC	0.642													G	91926227	A	G	91926227	3	3	311	1	0	0	0	0	1	0	0	0	3484	391	14	3	22	3	CKS2	9	91926227	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	86835731	91926227	49287204	34	21094											
RPL7A	6130	broad.mit.edu	37	chr9	136217156	136217156	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtggtgattgcacaCgacgtggatcccatcgaggt	8	9	14	10	3	0	1	0	1	0	0	2	4	1	2	1	4	2	2	1	4	0	1	rs142456845	by1000genomes	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr9:136217156C>T	ENST00000323345.6	+	5	507	c.477C>T	c.(475-477)caC>caT	p.H159H	RPL7A_ENST00000315731.4_Silent_p.H44H|RPL7A_ENST00000463740.1_3'UTR	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	159					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		TGATTGCACACGACGTGGATC	0.522													T	136217156	C	T	136217156	2	4	311	1	0	0	0	0	0	0	0	1	13691	535	19	1		1	RPL7A	9	136217156	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	44290929	136217156	4996275	35	21095											
SHOC2	8036	broad.mit.edu	37	chr10	112745430	112745430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatgtagctcacaatcaaCttgaacaccttccaaaggag	14	9	8	10	0	2	1	2	1	0	0	3	3	3	3	2	2	3	2	2	2	5	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr10:112745430C>A	ENST00000369452.4	+	3	1093	c.748C>A	c.(748-750)Ctt>Att	p.L250I	SHOC2_ENST00000265277.5_Intron|SHOC2_ENST00000489390.1_Intron	NM_007373.3	NP_031399.2	Q9UQ13	SHOC2_HUMAN	soc-2 suppressor of clear homolog (C. elegans)	250					fibroblast growth factor receptor signaling pathway|positive regulation of Ras protein signal transduction|Ras protein signal transduction	nucleus|protein phosphatase type 1 complex	protein phosphatase binding|protein phosphatase regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|skin(2)	17				Epithelial(162;0.000796)|all cancers(201;0.011)|BRCA - Breast invasive adenocarcinoma(275;0.126)		TCACAATCAACTTGAACACCT	0.368													A	112745430	C	A	112745430	3	1	311	1	0	0	0	0	1	0	0	0	14381	565	20	4	754	4	SHOC2	10	112745430	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		112745430	22789317	36	21096											
MRVI1	10335	broad.mit.edu	37	chr11	10615122	10615122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacttaggaaccacagcaaCgctgaccctccggcgaggca	13	4	10	14	3	0	1	0	1	0	0	1	3	1	2	3	3	4	3	3	3	4	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:10615122C>T	ENST00000547195.1	-	16	2319	c.1819G>A	c.(1819-1821)Gtt>Att	p.V607I	MRVI1_ENST00000545852.1_Missense_Mutation_p.V383I|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1-AS1_ENST00000529979.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.V492I|MRVI1_ENST00000552103.1_Missense_Mutation_p.V607I|MRVI1_ENST00000534266.2_Missense_Mutation_p.V383I|MRVI1_ENST00000436272.1_Missense_Mutation_p.V671I|MRVI1_ENST00000421747.1_Missense_Mutation_p.V689I|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000423302.2_Missense_Mutation_p.V698I|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000531107.1_Missense_Mutation_p.V690I|MRVI1_ENST00000424001.1_Missense_Mutation_p.V383I|MRVI1_ENST00000558540.1_Missense_Mutation_p.V383I|MRVI1_ENST00000527509.2_Missense_Mutation_p.V607I	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	671					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ACCACAGCAACGCTGACCCTC	0.517													T	10615122	C	T	10615122	3	4	311	1	0	0	0	0	1	0	0	0	9929	536	19	1	666	1	MRVI1	11	10615122	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		10615122	124391394	37	21097											
SART1	9092	broad.mit.edu	37	chr11	65733982	65733982	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcagtccctgagcacAgtggggccccggctggcctc	5	6	14	16	1	1	1	1	1	0	0	3	1	2	1	4	5	1	3	4	5	0	0			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:65733982A>G	ENST00000312397.5	+	9	1235	c.1143A>G	c.(1141-1143)acA>acG	p.T381T		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	381					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CCCTGAGCACAGTGGGGCCCC	0.677													G	65733982	A	G	65733982	2	3	311	1	0	0	0	0	0	0	0	1	13938	175	7	3		3	SART1	11	65733982	Silent	SNP	A	TCGA-DB-5279-01A-01D-1468-08	55118860	65733982	69272534	38	21098											
DLG2	1740	broad.mit.edu	37	chr11	84996386	84996386	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgagaatttagcaatgTcacctcataaaattcttgga	13	16	6	6	0	3	1	2	1	1	1	3	3	3	2	1	1	1	1	1	1	5	7			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:84996386T>G	ENST00000376104.2	-	4	375	c.64A>C	c.(64-66)Aca>Cca	p.T22P	DLG2_ENST00000543673.1_Missense_Mutation_p.T22P	NM_001142699.1	NP_001136171.1	Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)	0						cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				TTTAGCAATGTCACCTCATAA	0.348													G	84996386	T	G	84996386	3	3	311	1	0	0	0	0	1	0	0	0	4594	1667	58	5	3168	5	DLG2	11	84996386	Missense_Mutation	SNP	T	TCGA-DB-5279-01A-01D-1468-08	19262404	84996386	50010130	39	21099											
HTR3A	3359	broad.mit.edu	37	chr11	113852031	113852031	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggacattctcatcaatgAgttgtgagtaccgttatcca	10	12	8	11	2	2	2	2	2	1	0	4	3	3	3	3	1	1	3	3	1	3	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr11:113852031A>T	ENST00000504030.2	+	4	816	c.371A>T	c.(370-372)gAg>gTg	p.E124V	HTR3A_ENST00000355556.2_Missense_Mutation_p.E130V|HTR3A_ENST00000299961.5_Missense_Mutation_p.E109V|HTR3A_ENST00000375498.2_Missense_Mutation_p.E130V|HTR3A_ENST00000535865.1_5'UTR|HTR3A_ENST00000506841.2_Missense_Mutation_p.E124V			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	124					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCATCAATGAGTTGTGAGTA	0.512													T	113852031	A	T	113852031	3	4	311	1	0	0	0	0	1	0	0	0	7502	304	11	5	429	5	HTR3A	11	113852031	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08	28855645	113852031	21154485	40	21100											
MIPEP	4285	broad.mit.edu	37	chr13	24411745	24411745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatgcatggcatgtcccaTttcatggaaaagattttcca	12	13	8	8	0	1	2	1	1	0	1	3	3	3	3	2	2	1	2	2	2	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:24411745T>C	ENST00000382172.3	-	13	1587	c.1489A>G	c.(1489-1491)Atg>Gtg	p.M497V		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	497					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		GCATGTCCCATTTCATGGAAA	0.438													C	24411745	T	C	24411745	3	2	311	1	0	0	0	0	1	0	0	0	9667	1493	52	3	680	3	MIPEP	13	24411745	Missense_Mutation	SNP	T	TCGA-DB-5279-01A-01D-1468-08		24411745	90758133	41	21101											
FRY	10129	broad.mit.edu	37	chr13	32811758	32811758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaggcctctcctcaaaaaCcagaagctcatcctccttga	13	8	5	15	0	3	2	2	1	1	1	6	2	5	2	5	1	2	1	5	1	4	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:32811758C>G	ENST00000380250.3	+	44	6549	c.6053C>G	c.(6052-6054)aCc>aGc	p.T2018S		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2018					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCCTCAAAAACCAGAAGCTCA	0.537													G	32811758	C	G	32811758	3	3	311	1	0	0	0	0	1	0	0	0	6115	507	18	4	6227	4	FRY	13	32811758	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	8400013	32811758	82358120	42	21102											
NBEA	26960	broad.mit.edu	37	chr13	35923243	35923243	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaaggtatttttctttttAgattactgtgccatgctatg	9	19	7	6	0	1	1	0	0	1	1	1	1	1	1	1	1	3	2	1	1	6	9			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:35923243A>G	ENST00000540320.1	+	37	6437		c.e37-1		NBEA_ENST00000400445.3_Splice_Site|NBEA_ENST00000310336.4_Splice_Site|NBEA_ENST00000379939.2_Splice_Site			Q8NFP9	NBEA_HUMAN	neurobeachin							cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TTTTCTTTTTAGATTACTGTG	0.313													G	35923243	A	G	35923243	5	3	311	1	0	0	0	0	0	0	1	0	10263	434	15	3	6048	3	NBEA	13	35923243	Splice_Site	SNP	A	TCGA-DB-5279-01A-01D-1468-08	3111485	35923243	79246635	43	21103											
TRPC4	7223	broad.mit.edu	37	chr13	38320234	38320234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaaattgtttgcactgcCgtgacagctcttcatactcc	9	13	7	12	1	2	1	1	1	1	0	3	1	3	1	2	0	5	4	2	0	3	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr13:38320234C>T	ENST00000379705.3	-	3	1594	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	TRPC4_ENST00000447043.1_Missense_Mutation_p.R246Q|TRPC4_ENST00000379681.3_Missense_Mutation_p.R246Q|TRPC4_ENST00000355779.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000358477.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000426868.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000379673.2_Missense_Mutation_p.R246Q|TRPC4_ENST00000338947.5_Intron|TRPC4_ENST00000379679.1_Intron			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	246					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TTTGCACTGCCGTGACAGCTC	0.423													T	38320234	C	T	38320234	3	4	311	1	0	0	0	0	1	0	0	0	16681	652	23	1	2247	1	TRPC4	13	38320234	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	2396991	38320234	76849644	44	21104											
MYH7	4625	broad.mit.edu	37	chr14	23884933	23884933	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctccaccacggcacgcaActcctccagctcagcctgca	8	6	7	20	2	1	0	1	0	0	0	4	0	4	0	5	1	5	5	5	1	1	0			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:23884933A>G	ENST00000355349.3	-	35	5224	c.5062T>C	c.(5062-5064)Ttg>Ctg	p.L1688L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1688					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACGGCACGCAACTCCTCCAGC	0.622													G	23884933	A	G	23884933	2	3	311	1	0	0	0	0	0	0	0	1	10115	40	2	3		3	MYH7	14	23884933	Silent	SNP	A	TCGA-DB-5279-01A-01D-1468-08		23884933	83464607	45	21105											
MDGA2	161357	broad.mit.edu	37	chr14	47311142	47311142	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggataaggtcaccttcGaggacttaagatagagatga	14	8	12	7	1	1	3	1	1	0	2	2	7	1	5	2	3	0	0	2	3	3	4			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr14:47311142G>T	ENST00000426342.1	-	17	2922	c.2176C>A	c.(2176-2178)Cga>Aga	p.R726R	MDGA2_ENST00000399232.2_Silent_p.R955R|MDGA2_ENST00000439988.3_Silent_p.R1024R|MDGA2_ENST00000357362.3_Silent_p.R726R|MDGA2_ENST00000399222.3_Silent_p.R157R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	955					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGTCACCTTCGAGGACTTAAG	0.388													T	47311142	G	T	47311142	2	4	311	1	0	0	0	0	0	0	0	1	9482	1066	37	4		4	MDGA2	14	47311142	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	23426209	47311142	60038398	46	21106											
TJP1	7082	broad.mit.edu	37	chr15	30024898	30024898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaggctgagcggacaaatCctctctgctttttcgaagat	11	11	9	10	2	1	2	0	1	1	1	4	4	2	3	1	2	3	2	1	2	3	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:30024898C>T	ENST00000346128.6	-	14	2332	c.1858G>A	c.(1858-1860)Gat>Aat	p.D620N	TJP1_ENST00000400011.2_Missense_Mutation_p.D624N|TJP1_ENST00000356107.6_Missense_Mutation_p.D620N|TJP1_ENST00000545208.2_Missense_Mutation_p.D620N	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	620	Guanylate kinase-like.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GCGGACAAATCCTCTCTGCTT	0.433													T	30024898	C	T	30024898	3	4	311	1	0	0	0	0	1	0	0	0	16029	855	30	2	3448	2	TJP1	15	30024898	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		30024898	72506494	47	21107											
FSIP1	161835	broad.mit.edu	37	chr15	39910063	39910063	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccaatgccaagagtcttCgacataaaatagtcttttgt	12	13	6	10	1	2	1	0	0	2	1	4	2	3	1	2	0	1	0	2	0	5	5	rs144527032	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:39910063C>T	ENST00000350221.3	-	11	1781	c.1572G>A	c.(1570-1572)tcG>tcA	p.S524S		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	524										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		CAAGAGTCTTCGACATAAAAT	0.398													T	39910063	C	T	39910063	2	4	311	1	0	0	0	0	0	0	0	1	6126	871	31	1		1	FSIP1	15	39910063	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	9885165	39910063	62621329	48	21108											
ZNF592	9640	broad.mit.edu	37	chr15	85326612	85326612	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaaggatccggatgccactCgattcttcggggaagctttg	9	10	12	10	3	1	0	0	0	1	0	4	4	2	3	2	4	2	1	2	4	2	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr15:85326612C>T	ENST00000299927.3	+	1	728	c.706C>T	c.(706-708)Cga>Tga	p.R236*	ZNF592_ENST00000560079.2_Nonsense_Mutation_p.R236*			Q92610	ZN592_HUMAN	zinc finger protein 592	236					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGATGCCACTCGATTCTTCGG	0.567													T	85326612	C	T	85326612	4	4	311	1	0	0	0	0	0	1	0	0	18123	876	31	1	708	1	ZNF592	15	85326612	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	45416549	85326612	17204780	49	21109											
CIITA	4261	broad.mit.edu	37	chr16	10997737	10997737	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacctgccctgacctccCgagcaaacatgacaggtaag	12	6	9	14	1	0	3	0	3	0	0	1	4	1	3	4	1	4	2	4	1	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:10997737C>T	ENST00000324288.8	+	9	1055	c.922C>T	c.(922-924)Cga>Tga	p.R308*	CIITA_ENST00000381835.5_Nonsense_Mutation_p.R259*|CIITA_ENST00000537380.1_3'UTR	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	308					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CCTGACCTCCCGAGCAAACAT	0.592			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								T	10997737	C	T	10997737	4	4	311	1	0	0	0	0	0	1	0	0	3458	644	23	1	956	1	CIITA	16	10997737	Nonsense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08		10997737	79357016	50	21110											
ITGAL	3683	broad.mit.edu	37	chr16	30530025	30530025	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccacctctatggcagcaaCgcctccctggcccaggtatc	7	9	8	17	1	1	0	0	0	1	0	4	0	3	0	5	3	2	3	5	3	3	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr16:30530025C>T	ENST00000356798.6	+	29	3393	c.3213C>T	c.(3211-3213)aaC>aaT	p.N1071N	ITGAL_ENST00000358164.5_Silent_p.N987N|ITGAL_ENST00000433423.2_Silent_p.N305N	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	1071					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	ATGGCAGCAACGCCTCCCTGG	0.612													T	30530025	C	T	30530025	2	4	311	1	0	0	0	0	0	0	0	1	7944	535	19	1		1	ITGAL	16	30530025	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	19532288	30530025	59824728	51	21111											
TRPV3	162514	broad.mit.edu	37	chr17	3458040	3458040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acccacctcttctttgtgggGgtgatctccgccggcctctt	3	13	10	15	2	4	1	0	1	4	0	5	1	4	1	5	3	0	0	5	3	0	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:3458040G>A	ENST00000301365.4	-	2	236	c.105C>T	c.(103-105)acC>acT	p.T35T	TRPV3_ENST00000576742.1_Silent_p.T35T|TRPV3_ENST00000572519.1_Silent_p.T35T			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	35						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	TCTTTGTGGGGGTGATCTCCG	0.657													A	3458040	G	A	3458040	2	1	311	1	0	0	0	0	0	0	0	1	16698	1219	43	2		2	TRPV3	17	3458040	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		3458040	77737170	52	21112											
ABHD15	116236	broad.mit.edu	37	chr17	27893210	27893210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcgagatgcaggcggCgcctgtcacgtagctggagg	7	5	18	11	5	1	1	1	0	0	1	1	3	1	2	1	5	2	3	1	5	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:27893210C>T	ENST00000307201.4	-	1	945	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	259						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						ATGCAGGCGGCGCCTGTCACG	0.711													T	27893210	C	T	27893210	3	4	311	1	0	0	0	0	1	0	0	0	81	768	27	1	639	1	ABHD15	17	27893210	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	24435170	27893210	53302000	53	21113											
ABCC3	8714	broad.mit.edu	37	chr17	48741328	48741328	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggctctggttatcaccaaCtcagtcaaacgtgcgtccac	10	9	8	14	2	4	0	3	0	1	0	5	0	5	0	2	2	3	2	2	2	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr17:48741328C>G	ENST00000285238.8	+	10	1274	c.1194C>G	c.(1192-1194)aaC>aaG	p.N398K	ABCC3_ENST00000427699.1_Missense_Mutation_p.N398K	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	398	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTATCACCAACTCAGTCAAAC	0.587													G	48741328	C	G	48741328	3	3	311	1	0	0	0	0	1	0	0	0	54	564	20	4	1232	4	ABCC3	17	48741328	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	20848118	48741328	32453882	54	21114											
ATP8B3	148229	broad.mit.edu	37	chr19	1785266	1785266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggatggtcgccacgcacaGggcggtccagtacttgatga	9	7	15	10	3	0	2	0	2	0	0	2	4	1	3	2	4	1	2	2	4	1	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:1785266G>A	ENST00000539485.1	-	27	3687	c.3454C>T	c.(3454-3456)Ctg>Ttg	p.L1152L	ATP8B3_ENST00000310127.6_Silent_p.L1142L|ATP8B3_ENST00000525591.1_Silent_p.L1105L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1142					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		GCCACGCACAGGGCGGTCCAG	0.607													A	1785266	G	A	1785266	2	1	311	1	0	0	0	0	0	0	0	1	1201	991	35	2		2	ATP8B3	19	1785266	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		1785266	57343717	55	21115											
SAFB2	9667	broad.mit.edu	37	chr19	5587939	5587939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcaccctgccaggcgcGtgcctggtgctcctctagcc	4	8	12	17	2	1	0	0	0	1	0	2	0	2	0	5	3	4	2	5	3	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:5587939G>A	ENST00000252542.4	-	19	2842	c.2578C>T	c.(2578-2580)Cgc>Tgc	p.R860C		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	860	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		TGCCAGGCGCGTGCCTGGTGC	0.662													A	5587939	G	A	5587939	3	1	311	1	0	0	0	0	1	0	0	0	13898	1145	40	1	295	1	SAFB2	19	5587939	Missense_Mutation	SNP	G	TCGA-DB-5279-01A-01D-1468-08	3802673	5587939	53541044	56	21116											
MAG	4099	broad.mit.edu	37	chr19	35802842	35802842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacgtgacagagagcccCagcttctcggcaggggacaa	13	4	13	11	2	1	3	0	1	1	2	2	5	1	4	2	3	3	2	2	3	3	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:35802842C>T	ENST00000361922.4	+	10	1788	c.1638C>T	c.(1636-1638)ccC>ccT	p.P546P	MAG_ENST00000593348.1_3'UTR|MAG_ENST00000537831.2_Silent_p.P521P|MAG_ENST00000392213.3_Silent_p.P546P	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	546					blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CAGAGAGCCCCAGCTTCTCGG	0.607													T	35802842	C	T	35802842	2	4	311	1	0	0	0	0	0	0	0	1	9233	581	21	2		2	MAG	19	35802842	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	30214903	35802842	23326141	57	21117											
ZNF546	339327	broad.mit.edu	37	chr19	40520711	40520711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttcagtagtcgctatcatCtcactcaacactacagaatt	12	12	4	13	1	4	1	4	0	1	1	6	1	4	1	1	0	2	2	1	0	5	5			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:40520711C>G	ENST00000347077.4	+	7	1750	c.1534C>G	c.(1534-1536)Ctc>Gtc	p.L512V	ZNF546_ENST00000600094.1_Missense_Mutation_p.L486V|ZNF546_ENST00000596894.1_Intron	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TCGCTATCATCTCACTCAACA	0.403													G	40520711	C	G	40520711	3	3	311	1	0	0	0	0	1	0	0	0	18079	913	32	4	1552	4	ZNF546	19	40520711	Missense_Mutation	SNP	C	TCGA-DB-5279-01A-01D-1468-08	4717869	40520711	18608272	58	21118											
SLC17A7	57030	broad.mit.edu	37	chr19	49933845	49933845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggccccataggagggCgggggtgcagggggtgcccc	4	6	21	10	1	0	0	0	0	0	0	0	1	0	1	4	7	2	1	4	7	1	1			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr19:49933845C>T	ENST00000221485.3	-	12	1785	c.1614G>A	c.(1612-1614)ccG>ccA	p.P538P	SLC17A7_ENST00000600601.1_Silent_p.P471P|SLC17A7_ENST00000543531.1_Silent_p.P526P	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	538	Pro-rich.				glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CATAGGAGGGCGGGGGTGCAG	0.647													T	49933845	C	T	49933845	2	4	311	1	0	0	0	0	0	0	0	1	14516	755	27	1		1	SLC17A7	19	49933845	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08	9413134	49933845	9195138	59	21119											
CYP24A1	1591	broad.mit.edu	37	chr20	52779339	52779339	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggtgataaatgtcacAaaggaaatctgcactaggct	14	11	9	7	0	3	1	1	1	2	0	3	2	3	2	0	3	1	2	0	3	5	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:52779339A>T	ENST00000216862.3	-	7	1300	c.907T>A	c.(907-909)Tgt>Agt	p.C303S	CYP24A1_ENST00000395954.3_Missense_Mutation_p.C161S|CYP24A1_ENST00000395955.3_Missense_Mutation_p.C303S	NM_000782.4	NP_000773.2	Q07973	CP24A_HUMAN	cytochrome P450, family 24, subfamily A, polypeptide 1	303					hormone biosynthetic process|osteoblast differentiation|vitamin D catabolic process|vitamin D receptor signaling pathway|xenobiotic metabolic process	mitochondrial inner membrane	1-alpha,25-dihydroxyvitamin D3 24-hydroxylase activity|electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		STAD - Stomach adenocarcinoma(23;0.206)		Calcidiol(DB00146)|Calcitriol(DB00136)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TAAATGTCACAAAGGAAATCT	0.463													T	52779339	A	T	52779339	3	4	311	1	0	0	0	0	1	0	0	0	4187	130	5	5	657	5	CYP24A1	20	52779339	Missense_Mutation	SNP	A	TCGA-DB-5279-01A-01D-1468-08		52779339	10246181	60	21120											
STMN3	50861	broad.mit.edu	37	chr20	62272736	62272736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgttcctgcgcacctcGgccgcgtgcagctcctgcag	3	10	11	17	4	0	0	0	0	0	0	4	0	3	0	5	1	4	5	5	1	0	2			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr20:62272736G>A	ENST00000370053.1	-	5	579	c.498C>T	c.(496-498)gcC>gcT	p.A166A	STMN3_ENST00000540534.1_Silent_p.A155A	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	166					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			TGCGCACCTCGGCCGCGTGCA	0.716													A	62272736	G	A	62272736	2	1	311	1	0	0	0	0	0	0	0	1	15406	1103	39	1		1	STMN3	20	62272736	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	9493397	62272736	752784	61	21121											
TPST2	8459	broad.mit.edu	37	chr22	26937282	26937282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggcgcatggccagcacGcgcgggatgatgcgggtctc	5	6	17	13	5	1	1	0	1	1	0	2	2	1	2	2	4	2	2	2	4	0	0	rs146078388	byFrequency	TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:26937282G>A	ENST00000338754.4	-	3	585	c.315C>T	c.(313-315)cgC>cgT	p.R105R	TPST2_ENST00000398110.2_Silent_p.R105R|TPST2_ENST00000403880.1_Silent_p.R105R	NM_003595.3	NP_003586.3	O60704	TPST2_HUMAN	tyrosylprotein sulfotransferase 2	105					peptidyl-tyrosine sulfation	endoplasmic reticulum|Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			central_nervous_system(1)|large_intestine(1)|lung(5)	7						TGGCCAGCACGCGCGGGATGA	0.706													A	26937282	G	A	26937282	2	1	311	1	0	0	0	0	0	0	0	1	16529	1074	38	1		1	TPST2	22	26937282	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08		26937282	24367284	62	21122											
MICALL1	85377	broad.mit.edu	37	chr22	38323452	38323452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctctcgcactcggagccGccctcggccacaccatcgcc	5	5	9	22	6	1	0	0	0	1	0	5	1	1	1	6	2	1	1	6	2	0	0			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chr22:38323452G>A	ENST00000215957.6	+	9	1626	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	500	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					ACTCGGAGCCGCCCTCGGCCA	0.687													A	38323452	G	A	38323452	2	1	311	1	0	0	0	0	0	0	0	1	9648	1074	38	1		1	MICALL1	22	38323452	Silent	SNP	G	TCGA-DB-5279-01A-01D-1468-08	11386170	38323452	12981114	63	21123											
MAGEC1	9947	broad.mit.edu	37	chrX	140995929	140995929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggatgaaaaggtggaCgagttggcgcggtttcttct	9	11	14	7	3	2	1	0	1	2	0	2	4	2	3	0	5	0	2	0	5	2	3			TCGA-DB-5279-01A-01D-1468-08	TCGA-DB-5279-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	277aa1d8-ce6a-4e32-a267-73c33665ab97	1761720c-3e2f-4ce7-8551-b859117e150f	g.chrX:140995929C>T	ENST00000285879.4	+	4	3025	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	MAGEC1_ENST00000406005.2_5'UTR	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	913	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGGTGGACGAGTTGGCGC	0.488										HNSCC(15;0.026)			T	140995929	C	T	140995929	2	4	311	1	0	0	0	0	0	0	0	1	9255	535	19	1		1	MAGEC1	23	140995929	Silent	SNP	C	TCGA-DB-5279-01A-01D-1468-08		140995929	14274631	64	21124											
MYOM3	127294	broad.mit.edu	37	chr1	24419503	24419503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccggaccatgtagaGcccctcgtcctccttgtagg	6	8	12	15	2	0	1	0	0	0	1	3	2	2	2	6	3	1	3	6	3	2	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:24419503G>A	ENST00000330966.7	-	10	1189	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	MYOM3_ENST00000374434.3_Missense_Mutation_p.L342F|MYOM3_ENST00000329601.7_Missense_Mutation_p.L342F|MYOM3_ENST00000475306.1_5'UTR			Q5VTT5	MYOM3_HUMAN	myomesin 3	342	Ig-like C2-type 2.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		ACCATGTAGAGCCCCTCGTCC	0.637													A	24419503	G	A	24419503	3	1	312	1	0	0	0	0	1	0	0	0	10169	971	34	2	3401	2	MYOM3	1	24419503	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		24419503	224831118	1	21125											
ZCCHC11	23318	broad.mit.edu	37	chr1	52889613	52889613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggactcgcattactcCgacacgtttcctcttggtgg	9	12	9	11	3	1	0	0	0	1	0	4	2	3	1	2	3	1	2	2	3	3	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:52889613C>T	ENST00000371544.3	-	30	5191	c.4929G>A	c.(4927-4929)tcG>tcA	p.S1643S	ZCCHC11_ENST00000257177.4_Silent_p.S1644S	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1643					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CGCATTACTCCGACACGTTTC	0.507													T	52889613	C	T	52889613	2	4	312	1	0	0	0	0	0	0	0	1	17681	639	23	1		1	ZCCHC11	1	52889613	Silent	SNP	C	TCGA-DB-5280-01A-01D-1468-08	28470110	52889613	196361008	2	21126											
LCE2C	353140	broad.mit.edu	37	chr1	152648675	152648675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgtggtcccagctctgggGgctgctgcagctctggggct	2	10	17	12	0	2	0	0	0	2	0	3	0	3	0	1	5	4	7	1	5	0	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:152648675G>A	ENST00000368783.1	+	2	239	c.184G>A	c.(184-186)Ggc>Agc	p.G62S	LCE2B_ENST00000417924.2_Intron	NM_178429.2	NP_848516.1	Q5TA81	LCE2C_HUMAN	late cornified envelope 2C	62	Cys-rich.				keratinization					endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	13	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCTCTGGGGGCTGCTGCAG	0.662													A	152648675	G	A	152648675	3	1	312	1	0	0	0	0	1	0	0	0	8726	1232	43	2	186	2	LCE2C	1	152648675	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	99759062	152648675	96601946	3	21127											
FCRL3	115352	broad.mit.edu	37	chr1	157665373	157665373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggccctgggagccctgaagGtgaggacagggtgagatacc	9	5	18	9	0	0	3	0	3	0	1	0	6	0	5	3	5	2	0	3	5	2	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:157665373G>T	ENST00000368184.3	-	8	1448	c.1157C>A	c.(1156-1158)aCc>aAc	p.T386N	FCRL3_ENST00000368186.5_Missense_Mutation_p.T386N|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	386	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					AGCCCTGAAGGTGAGGACAGG	0.557													T	157665373	G	T	157665373	3	4	312	1	0	0	0	0	1	0	0	0	5845	1261	44	4	1079	4	FCRL3	1	157665373	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	5016698	157665373	91585248	4	21128											
FMO1	2326	broad.mit.edu	37	chr1	171254528	171254528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgactggcccaggaaaatggGaaggagccagaaatgccatc	14	5	13	9	0	0	2	0	1	0	1	1	5	0	5	3	4	2	0	3	4	4	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:171254528G>A	ENST00000354841.4	+	8	1575	c.1444G>A	c.(1444-1446)Gaa>Aaa	p.E482K	FMO1_ENST00000367750.3_Missense_Mutation_p.E482K|FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.E419K	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	482					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGGAAAATGGGAAGGAGCCAG	0.502													A	171254528	G	A	171254528	3	1	312	1	0	0	0	0	1	0	0	0	6003	1175	41	2	1474	2	FMO1	1	171254528	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	13589155	171254528	77996093	5	21129											
OR1C1	26188	broad.mit.edu	37	chr1	247921610	247921610	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtggtggctaaatacatAcagagaaagagcacagacag	18	5	12	6	0	0	3	0	0	0	3	0	4	0	3	0	3	3	2	0	3	6	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr1:247921610A>C	ENST00000408896.2	-	1	372	c.99T>G	c.(97-99)tgT>tgG	p.C33W		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTAAATACATACAGAGAAAGA	0.463													C	247921610	A	C	247921610	3	2	312	1	0	0	0	0	1	0	0	0	11028	389	14	5	847	5	OR1C1	1	247921610	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08	76667082	247921610	1329011	6	21130											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	312	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		209113112	34086261	7	21131											
FAM124B	79843	broad.mit.edu	37	chr2	225266432	225266432	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaagggagccgtgcccAgagttggcaagaagatggac	12	5	16	8	1	0	4	0	0	0	4	0	6	0	6	2	3	3	3	2	3	3	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr2:225266432A>G	ENST00000389874.3	-	1	279	c.54T>C	c.(52-54)tcT>tcC	p.S18S	FAM124B_ENST00000243806.2_Silent_p.S18S|FAM124B_ENST00000409685.3_Silent_p.S18S	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	18							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		AGCCGTGCCCAGAGTTGGCAA	0.582													G	225266432	A	G	225266432	2	3	312	1	0	0	0	0	0	0	0	1	5471	175	7	3		3	FAM124B	2	225266432	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	16153320	225266432	17932941	8	21132											
IL17RC	84818	broad.mit.edu	37	chr3	9959040	9959040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtccttggcactgggccGaagcccagtggtcctttctc	4	11	12	14	1	1	0	0	0	1	0	4	1	3	0	4	3	1	2	4	3	1	2	rs112532783	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:9959040G>A	ENST00000295981.3	+	1	259	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	IL17RC_ENST00000498214.1_3'UTR|IL17RC_ENST00000455057.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000413608.1_Missense_Mutation_p.R14Q|IL17RC_ENST00000403601.3_Missense_Mutation_p.R14Q|IL17RC_ENST00000416074.2_5'UTR|IL17RC_ENST00000383812.4_Missense_Mutation_p.R14Q	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	14						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GCACTGGGCCGAAGCCCAGTG	0.657													A	9959040	G	A	9959040	3	1	312	1	0	0	0	0	1	0	0	0	7699	1058	37	1	43	1	IL17RC	3	9959040	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		9959040	188063390	9	21133											
IQCF1	132141	broad.mit.edu	37	chr3	51929062	51929062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggcacctccagtaagcctgGatgatgcgaacagcattgag	11	7	12	11	2	0	2	0	2	0	0	1	4	1	3	3	2	4	3	3	2	2	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr3:51929062G>A	ENST00000310914.5	-	4	524	c.462C>T	c.(460-462)atC>atT	p.I154I		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	154										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTAAGCCTGGATGATGCGAA	0.607													A	51929062	G	A	51929062	2	1	312	1	0	0	0	0	0	0	0	1	7865	1164	41	2		2	IQCF1	3	51929062	Silent	SNP	G	TCGA-DB-5280-01A-01D-1468-08	41970022	51929062	146093368	10	21134											
ADH1B	125	broad.mit.edu	37	chr4	100235204	100235204	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataggccgacccctcccAggccaaacacagcacaggta	13	3	9	16	1	0	1	0	0	0	1	1	2	1	1	5	3	2	2	5	3	3	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr4:100235204A>T	ENST00000305046.8	-	6	669	c.602T>A	c.(601-603)cTg>cAg	p.L201Q	ADH1B_ENST00000394887.3_Missense_Mutation_p.L161Q			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	201					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	GACCCCTCCCAGGCCAAACAC	0.463													T	100235204	A	T	100235204	3	4	312	1	0	0	0	0	1	0	0	0	308	188	7	5	541	5	ADH1B	4	100235204	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		100235204	90919072	11	21135											
MYO10	4651	broad.mit.edu	37	chr5	16694555	16694555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacatcagcttggactggCggaggacaaaccagcgcttc	11	7	12	11	2	1	0	1	0	0	0	2	3	1	3	1	4	4	3	1	4	2	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr5:16694555C>T	ENST00000513610.1	-	27	4179	c.3725G>A	c.(3724-3726)cGc>cAc	p.R1242H	MYO10_ENST00000274203.9_Missense_Mutation_p.R599H|MYO10_ENST00000505695.1_Missense_Mutation_p.R581H|MYO10_ENST00000515803.1_Missense_Mutation_p.R581H|MYO10_ENST00000427430.2_Missense_Mutation_p.R599H	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CTTGGACTGGCGGAGGACAAA	0.567													T	16694555	C	T	16694555	3	4	312	1	0	0	0	0	1	0	0	0	10138	768	27	1	2511	1	MYO10	5	16694555	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		16694555	164220705	12	21136											
PRPH2	5961	broad.mit.edu	37	chr6	42689525	42689525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaaaagtccaggtagCgattgctgatccactgaatc	12	9	12	8	1	0	2	0	2	0	0	3	5	2	4	2	3	2	2	2	3	4	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr6:42689525C>T	ENST00000230381.5	-	1	787	c.548G>A	c.(547-549)cGc>cAc	p.R183H		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	183					cell adhesion|visual perception	integral to membrane		p.R183H(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			GTCCAGGTAGCGATTGCTGAT	0.493													T	42689525	C	T	42689525	3	4	312	1	0	0	0	0	1	0	0	0	12663	768	27	1	504	1	PRPH2	6	42689525	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		42689525	128425542	13	21137											
VNN1	8876	broad.mit.edu	37	chr6	133015129	133015129	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgcaaattaattttacCttatggtagcgtgccaccag	11	15	7	8	1	0	0	0	0	0	0	0	0	0	0	3	1	4	2	3	1	6	7			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr6:133015129C>G	ENST00000367928.4	-	3	547	c.534G>C	c.(532-534)aaG>aaC	p.K178N		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	178	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		TTAATTTTACCTTATGGTAGC	0.373													G	133015129	C	G	133015129	5	3	312	1	0	0	0	0	0	0	1	0	17284	695	24	4	1027	4	VNN1	6	133015129	Splice_Site	SNP	C	TCGA-DB-5280-01A-01D-1468-08	90325604	133015129	38099938	14	21138											
ZP3	7784	broad.mit.edu	37	chr7	76062809	76062809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggaacgctgagaagagGtcccccaccttccacctggg	10	6	11	14	1	0	2	0	1	0	2	2	4	2	3	5	3	2	1	5	3	3	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr7:76062809G>T	ENST00000416245.1	+	3	1123	c.30G>T	c.(28-30)agG>agT	p.R10S	ZP3_ENST00000394857.3_Missense_Mutation_p.R186S|ZP3_ENST00000336517.4_Missense_Mutation_p.R135S			P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	186					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CTGAGAAGAGGTCCCCCACCT	0.597													T	76062809	G	T	76062809	3	4	312	1	0	0	0	0	1	0	0	0	18316	1252	44	4	572	4	ZP3	7	76062809	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		76062809	83075854	15	21139											
FOXP2	93986	broad.mit.edu	37	chr7	114269949	114269949	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagcagcagcagcaacaAcagcagcaacaacagcagca	19	0	8	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	8	0	0	5	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr7:114269949A>G	ENST00000393500.3	+	11	1081	c.261A>G	c.(259-261)caA>caG	p.Q87Q	FOXP2_ENST00000350908.4_Silent_p.Q162Q|FOXP2_ENST00000393498.2_Silent_p.Q142Q|FOXP2_ENST00000403559.4_Silent_p.Q179Q|FOXP2_ENST00000360232.4_Silent_p.Q162Q|FOXP2_ENST00000393491.3_Silent_p.Q70Q|FOXP2_ENST00000393489.3_Silent_p.Q70Q|FOXP2_ENST00000408937.3_Silent_p.Q187Q|FOXP2_ENST00000378237.3_Silent_p.Q162Q|FOXP2_ENST00000393494.2_Silent_p.Q162Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q186Q			O15409	FOXP2_HUMAN	forkhead box P2	162	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcaacaacagcagcaac	0.488													G	114269949	A	G	114269949	2	3	312	1	0	0	0	0	0	0	0	1	6078	40	2	3		3	FOXP2	7	114269949	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	38207140	114269949	44868714	16	21140											
LINGO2	158038	broad.mit.edu	37	chr9	27950110	27950110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtactgctgttaagttgCatttctccagggtgagctgc	6	15	12	8	0	1	1	0	1	1	0	2	1	1	1	1	2	5	6	1	2	2	5			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr9:27950110C>T	ENST00000379992.2	-	6	1009	c.560G>A	c.(559-561)tGc>tAc	p.C187Y	LINGO2_ENST00000308675.3_Missense_Mutation_p.C187Y	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	187						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TGTTAAGTTGCATTTCTCCAG	0.483													T	27950110	C	T	27950110	3	4	312	1	0	0	0	0	1	0	0	0	8876	710	25	2	1264	2	LINGO2	9	27950110	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		27950110	113263321	17	21141											
CARD16	114769	broad.mit.edu	37	chr11	104915359	104915359	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccatggaatggataaacaGctttctcttctccttcagga	11	12	7	11	0	3	0	1	0	2	0	5	3	3	3	2	3	2	1	2	3	3	4			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr11:104915359G>A	ENST00000375706.2	-	2	51	c.34C>T	c.(34-36)Ctg>Ttg	p.L12L	CARD16_ENST00000525374.1_Silent_p.L12L|CASP1_ENST00000415981.2_Intron|CARD16_ENST00000375704.3_Silent_p.L12L|CASP1_ENST00000598974.1_Intron|CASP1_ENST00000594519.1_Intron|CASP1_ENST00000593315.1_Intron	NM_001017534.1	NP_001017534.1			caspase recruitment domain family, member 16											endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	11						TGGATAAACAGCTTTCTCTTC	0.418													A	104915359	G	A	104915359	2	1	312	1	0	0	0	0	0	0	0	1	2673	962	34	2		2	CARD16	11	104915359	Silent	SNP	G	TCGA-DB-5280-01A-01D-1468-08		104915359	30091157	18	21142											
FAM186B	84070	broad.mit.edu	37	chr12	49992644	49992644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagactctgcaggcggtcaAtgttttccaggaagatgtag	10	11	13	7	1	2	2	1	1	1	2	3	4	3	3	1	3	1	3	1	3	3	3	rs140386687	byFrequency	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr12:49992644A>G	ENST00000544141.1	-	5	2587	c.1988T>C	c.(1987-1989)aTt>aCt	p.I663T	FAM186B_ENST00000257894.2_Missense_Mutation_p.I753T|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	753						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CAGGCGGTCAATGTTTTCCAG	0.537													G	49992644	A	G	49992644	3	3	312	1	0	0	0	0	1	0	0	0	5558	101	4	3	435	3	FAM186B	12	49992644	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		49992644	83859251	19	21143											
VRK1	7443	broad.mit.edu	37	chr14	97321577	97321577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataggtgtacttggtagattAtggccttgcttatcggtact	8	16	11	6	1	0	1	0	0	0	1	1	1	0	1	1	4	3	4	1	4	6	8			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:97321577A>G	ENST00000216639.3	+	8	742	c.593A>G	c.(592-594)tAt>tGt	p.Y198C		NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	198	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		TTGGTAGATTATGGCCTTGCT	0.393													G	97321577	A	G	97321577	3	3	312	1	0	0	0	0	1	0	0	0	17321	449	16	3	619	3	VRK1	14	97321577	Missense_Mutation	SNP	A	TCGA-DB-5280-01A-01D-1468-08		97321577	10027963	20	21144											
TNFAIP2	7127	broad.mit.edu	37	chr14	103599762	103599762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaactcagcaaggggCgcctggtcctcaagacggcc	9	6	11	15	2	3	1	3	0	0	1	5	1	5	1	4	4	2	1	4	4	3	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr14:103599762C>T	ENST00000560869.1	+	10	2248	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	TNFAIP2_ENST00000451723.2_Missense_Mutation_p.R206C|TNFAIP2_ENST00000538222.1_Missense_Mutation_p.R20C|TNFAIP2_ENST00000333007.1_Missense_Mutation_p.R537C			Q03169	TNAP2_HUMAN	tumor necrosis factor, alpha-induced protein 2	537					angiogenesis|cell differentiation	extracellular space				NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	11		Melanoma(154;0.155)	Epithelial(46;0.191)			CAGCAAGGGGCGCCTGGTCCT	0.622													T	103599762	C	T	103599762	3	4	312	1	0	0	0	0	1	0	0	0	16373	768	27	1	1643	1	TNFAIP2	14	103599762	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	6278185	103599762	3749778	21	21145											
CSNK1G1	53944	broad.mit.edu	37	chr15	64506110	64506110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgccaagatgcgtgttgaTagacatatatcttgcagttc	10	15	9	7	1	1	3	0	1	1	2	2	3	1	3	1	0	3	3	1	0	4	7			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr15:64506110T>C	ENST00000303052.7	-	6	1081	c.658A>G	c.(658-660)Atc>Gtc	p.I220V	CSNK1G1_ENST00000607537.1_Missense_Mutation_p.I220V|CTD-2116N17.1_ENST00000606793.1_Missense_Mutation_p.I202V|CSNK1G1_ENST00000303032.6_Missense_Mutation_p.I220V	NM_022048.3	NP_071331.2	Q9HCP0	KC1G1_HUMAN	casein kinase 1, gamma 1	220	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	13						TGCGTGTTGATAGACATATAT	0.383													C	64506110	T	C	64506110	3	2	312	1	0	0	0	0	1	0	0	0	3987	1406	49	3	638	3	CSNK1G1	15	64506110	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		64506110	38025282	22	21146											
TAT	6898	broad.mit.edu	37	chr16	71602180	71602180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatgaaattcgggtacTcaaagcactgcaaaaagaag	16	7	10	8	2	1	2	1	1	0	1	3	3	1	3	0	2	3	3	0	2	6	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr16:71602180T>C	ENST00000355962.4	-	12	1365	c.1232A>G	c.(1231-1233)gAg>gGg	p.E411G	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	411					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	ATTCGGGTACTCAAAGCACTG	0.502													C	71602180	T	C	71602180	3	2	312	1	0	0	0	0	1	0	0	0	15687	1551	54	3	136	3	TAT	16	71602180	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		71602180	18752573	23	21147											
PKD1L2	114780	broad.mit.edu	37	chr16	81201441	81201441	+	RNA	DEL	G	G	-																															actttcctcatctgcaagatGgggggggaaagttccaccta																								rs35726804		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr16:81201441delG	ENST00000533478.1	-	0	1149				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						tctgcaagatggggggggaaa	0.567													-	81201441	G	-	81201441	6	5	312	0	1	1	0	1	0	0	0	0	12042	1363	47	0		0	PKD1L2	16	81201441	RNA	DEL	G	TCGA-DB-5280-01A-01D-1468-08	9599261	81201441	9153312	24	21148											
CAMTA2	23125	broad.mit.edu	37	chr17	4876949	4876949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggtgcagaaggctcatgCcccggaaggggcttccatgg	8	6	15	12	1	1	1	1	0	0	1	2	2	2	2	4	6	2	3	4	6	2	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:4876949C>T	ENST00000361571.5	-	12	2540	c.2129G>A	c.(2128-2130)gGc>gAc	p.G710D	CAMTA2_ENST00000358183.4_Missense_Mutation_p.G711D|RP5-1050D4.2_ENST00000430920.1_RNA|CAMTA2_ENST00000381311.5_Missense_Mutation_p.G713D|CAMTA2_ENST00000348066.3_Missense_Mutation_p.G711D|CAMTA2_ENST00000414043.3_Missense_Mutation_p.G734D|CAMTA2_ENST00000572543.1_Missense_Mutation_p.G716D	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	711					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AAGGCTCATGCCCCGGAAGGG	0.647													T	4876949	C	T	4876949	3	4	312	1	0	0	0	0	1	0	0	0	2640	739	26	2	1570	2	CAMTA2	17	4876949	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		4876949	76318261	25	21149											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	312	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	2700171	7577120	73618090	26	21150											
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatggcgcggacgcggGtgccgggcgggggtgtggaa	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr17:7578466G>T	ENST00000420246.2	-	5	596	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000269305.4_Missense_Mutation_p.T155N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			T	7578466	G	T	7578466	3	4	312	1	0	0	0	0	1	0	0	0	16482	1261	44	4	834	4	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	1346	7578466	73616744	27	21151											
POTEC	388468	broad.mit.edu	37	chr18	14543057	14543057	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcagcaggggaagcggTggtgaaaccacttgcccatc	9	7	13	12	1	0	1	0	1	0	0	1	2	0	2	3	4	5	2	3	4	2	2	rs9807633	by1000genomes	TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:14543057T>G	ENST00000358970.5	-	1	88	c.89A>C	c.(88-90)cAc>cCc	p.H30P	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	30			H -> P (in dbSNP:rs9807633).							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GGGGAAGCGGTGGTGAAACCA	0.537													G	14543057	T	G	14543057	3	3	312	1	0	0	0	0	1	0	0	0	12339	1696	59	5	1583	5	POTEC	18	14543057	Missense_Mutation	SNP	T	TCGA-DB-5280-01A-01D-1468-08		14543057	63534191	28	21152											
DSG4	147409	broad.mit.edu	37	chr18	28983444	28983444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgatatcaatgattattgtCcaaacatttttcctgaaaga	14	15	5	7	0	1	4	1	3	0	1	3	4	3	4	2	0	1	0	2	0	5	5			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr18:28983444C>T	ENST00000359747.4	+	11	1512	c.1483C>T	c.(1483-1485)Cca>Tca	p.P495S	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.P495S|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	495	Cadherin 4.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TGATTATTGTCCAAACATTTT	0.383													T	28983444	C	T	28983444	3	4	312	1	0	0	0	0	1	0	0	0	4818	855	30	2	1525	2	DSG4	18	28983444	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	14440387	28983444	49093804	29	21153											
NUMBL	9253	broad.mit.edu	37	chr19	41183289	41183289	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttttcgctccaggcaggcgGcaaaagcacagcccacagcg	10	5	12	14	3	0	0	0	0	0	0	2	0	1	0	2	3	3	5	2	3	2	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41183289G>C	ENST00000252891.4	-	7	745	c.578C>G	c.(577-579)gCc>gGc	p.A193G	NUMBL_ENST00000540131.1_Missense_Mutation_p.A152G|NUMBL_ENST00000598779.1_Missense_Mutation_p.A152G	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	193	PID.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			CAGGCAGGCGGCAAAAGCACA	0.697													C	41183289	G	C	41183289	3	2	312	1	0	0	0	0	1	0	0	0	10828	1203	42	4	1267	4	NUMBL	19	41183289	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		41183289	17945694	30	21154											
ITPKC	80271	broad.mit.edu	37	chr19	41223412	41223412	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagcctccggacgcatctAgaatggagctggtcagagct	9	8	12	12	2	2	2	1	0	1	2	4	4	4	4	3	3	3	3	3	3	2	1			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:41223412A>C	ENST00000263370.2	+	1	405	c.372A>C	c.(370-372)ctA>ctC	p.L124L		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	124						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGACGCATCTAGAATGGAGCT	0.607													C	41223412	A	C	41223412	2	2	312	1	0	0	0	0	0	0	0	1	7977	407	15	5		5	ITPKC	19	41223412	Silent	SNP	A	TCGA-DB-5280-01A-01D-1468-08	40123	41223412	17905571	31	21155											
LILRA2	11027	broad.mit.edu	37	chr19	55086405	55086405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtgggccccgtgagccCgagtcgcaggtggtcgtaca	5	7	15	14	5	0	1	0	1	0	0	3	2	1	1	4	3	2	2	4	3	1	1	rs74454618		TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:55086405C>T	ENST00000251377.3	+	5	693	c.560C>T	c.(559-561)cCg>cTg	p.P187L	LILRA2_ENST00000391737.1_Missense_Mutation_p.P175L|LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Missense_Mutation_p.P187L|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.P187L					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCGTGAGCCCGAGTCGCAGG	0.587													T	55086405	C	T	55086405	3	4	312	1	0	0	0	0	1	0	0	0	8845	652	23	1	574	1	LILRA2	19	55086405	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	13862993	55086405	4042578	32	21156											
NLRP8	126205	broad.mit.edu	37	chr19	56466833	56466833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacaggaaatgggtgttagGtaaagaagatcttgaggaag	15	8	15	3	0	1	3	0	1	1	2	1	5	1	5	0	4	0	3	0	4	6	3			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr19:56466833G>A	ENST00000291971.3	+	3	1480	c.1409G>A	c.(1408-1410)gGt>gAt	p.G470D	NLRP8_ENST00000590542.1_Missense_Mutation_p.G470D	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	470	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TGGGTGTTAGGTAAAGAAGAT	0.502													A	56466833	G	A	56466833	3	1	312	1	0	0	0	0	1	0	0	0	10559	1261	44	2	1419	2	NLRP8	19	56466833	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08	1380428	56466833	2662150	33	21157											
CST8	10047	broad.mit.edu	37	chr20	23472506	23472506	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacaagtatgtcttcctgGtggtcaagacactgcaagcc	11	9	11	10	0	2	1	1	0	1	1	3	2	3	2	2	3	2	2	2	3	4	2			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr20:23472506G>C	ENST00000246012.1	+	2	559	c.202G>C	c.(202-204)Gtg>Ctg	p.V68L		NM_005492.2	NP_005483.1	O60676	CST8_HUMAN	cystatin 8 (cystatin-related epididymal specific)	68						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(9)|skin(2)	16	Colorectal(13;0.0431)|Lung NSC(19;0.235)					TGTCTTCCTGGTGGTCAAGAC	0.468													C	23472506	G	C	23472506	3	2	312	1	0	0	0	0	1	0	0	0	4011	1261	44	4	204	4	CST8	20	23472506	Missense_Mutation	SNP	G	TCGA-DB-5280-01A-01D-1468-08		23472506	39553014	34	21158											
SON	6651	broad.mit.edu	37	chr21	34927010	34927010	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagactcttcattaagatctCgaagtaagcgttccaaatct	13	12	7	9	2	4	2	1	0	3	2	6	4	5	2	1	0	1	2	1	0	4	4			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chr21:34927010C>T	ENST00000356577.4	+	3	5948	c.5473C>T	c.(5473-5475)Cga>Tga	p.R1825*	SON_ENST00000300278.4_Nonsense_Mutation_p.R1825*|SON_ENST00000290239.6_Nonsense_Mutation_p.R1825*|SON_ENST00000381679.4_Nonsense_Mutation_p.R1825*|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1825					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						ATTAAGATCTCGAAGTAAGCG	0.388													T	34927010	C	T	34927010	4	4	312	1	0	0	0	0	0	1	0	0	15020	876	31	1	5483	1	SON	21	34927010	Nonsense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08		34927010	13202885	35	21159											
ATRX	546	broad.mit.edu	37	chrX	76938749	76938765	+	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	GTCGCCTCAAGGGTGTA	-																															tacagggttagtttctgtcgGtcgcctcaagggtgtagtct																										TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:76938749_76938765delGTCGCCTCAAGGGTGTA	ENST00000373344.5	-	9	2197_2213	c.1983_1999delTACACCCTTGAGGCGAC	c.(1981-2001)actacacccttgaggcgaccgfs	p.TPLRRP662fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.TPLRRP624fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	662					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)	GTTTCTGTCGGTCGCCTCAAGGGTGTAGTCTTTACAC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938765	GTCGCCTCAAGGGTGTA	-	76938749	7	5	312	1	0	1	0	1	0	0	0	0	1213	1261	44	0	5587	0	ATRX	23	76938749	Frame_Shift_Del	DEL	GTCGCCTCAAGGGTGTA	TCGA-DB-5280-01A-01D-1468-08		76938749	78331811	36	21160											
DACH2	117154	broad.mit.edu	37	chrX	85994757	85994758	+	Frame_Shift_Ins	INS	-	-	C																															cttttgtgtcaggagcggatINScccagagagtccttctcctg																										TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:85994757_85994758insC	ENST00000373131.1	+	6	1236_1237	c.1073_1074insC	c.(1072-1077)atcccafs	p.IP358fs	DACH2_ENST00000373125.4_Frame_Shift_Ins_p.IP371fs|DACH2_ENST00000508860.1_Frame_Shift_Ins_p.IP204fs|DACH2_ENST00000510272.1_Frame_Shift_Ins_p.IP152fs	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	371					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CAGGAGCGGATCCCAGAGAGTC	0.485													C	85994758	-	C	85994757	7	5	312	1	0	1	1	0	0	0	0	0	4255	1435	50	0	1138	0	DACH2	23	85994757	Frame_Shift_Ins	INS	-	TCGA-DB-5280-01A-01D-1468-08	9056008	85994757	69275803	37	21161											
TFDP3	51270	broad.mit.edu	37	chrX	132351780	132351780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattcatggccatcagcaCgtttaaggcatcgtaggtgc	10	11	11	9	2	2	0	2	0	0	0	3	1	2	0	1	3	2	4	1	3	3	5			TCGA-DB-5280-01A-01D-1468-08	TCGA-DB-5280-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ef91c83b-6752-418b-9ffe-68c5a518f96a	f0f00150-b136-4274-a932-460ad5b990f7	g.chrX:132351780C>A	ENST00000310125.4	-	1	596	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	170						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCCATCAGCACGTTTAAGGCA	0.502													A	132351780	C	A	132351780	3	1	312	1	0	0	0	0	1	0	0	0	15899	536	19	4	713	4	TFDP3	23	132351780	Missense_Mutation	SNP	C	TCGA-DB-5280-01A-01D-1468-08	46357023	132351780	22918780	38	21162											
CHD5	26038	broad.mit.edu	37	chr1	6186737	6186737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctcatagtggtgccGcagcagcttctcccagtagt	6	11	11	13	1	2	0	1	0	1	0	3	0	2	0	2	1	5	6	2	1	2	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:6186737G>A	ENST00000262450.3	-	26	4072	c.3973C>T	c.(3973-3975)Cgg>Tgg	p.R1325W	CHD5_ENST00000378021.1_Missense_Mutation_p.R182W	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1325					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TAGTGGTGCCGCAGCAGCTTC	0.627													A	6186737	G	A	6186737	3	1	313	1	0	0	0	0	1	0	0	0	3358	1086	38	1	1955	1	CHD5	1	6186737	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08		6186737	243063884	1	21163											
TESK2	10420	broad.mit.edu	37	chr1	45887455	45887455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacttctttcagcatgtttgCccggttactgctcaatgtgt	6	17	8	10	1	3	0	2	0	1	0	3	0	3	0	1	1	5	4	1	1	3	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:45887455C>T	ENST00000372086.3	-	3	686	c.286G>A	c.(286-288)Gca>Aca	p.A96T	TESK2_ENST00000372084.1_Missense_Mutation_p.A96T|TESK2_ENST00000341771.6_Missense_Mutation_p.A96T|TESK2_ENST00000538496.1_Missense_Mutation_p.A13T|TESK2_ENST00000451835.2_Missense_Mutation_p.A96T|TESK2_ENST00000486676.1_5'UTR	NM_007170.2	NP_009101.2	Q96S53	TESK2_HUMAN	testis-specific kinase 2	96	Protein kinase.				actin cytoskeleton organization|focal adhesion assembly|spermatogenesis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	32	Acute lymphoblastic leukemia(166;0.155)					AGCATGTTTGCCCGGTTACTG	0.423													T	45887455	C	T	45887455	3	4	313	1	0	0	0	0	1	0	0	0	15868	739	26	2	1465	2	TESK2	1	45887455	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	39700718	45887455	203363166	2	21164											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													C	145109976	-	C	145109975	6	5	313	0	1	1	1	0	0	0	0	0	14082	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-DB-5281-01A-01D-1468-08	99222520	145109975	104140646	3	21165											
EFEMP1	2202	broad.mit.edu	37	chr2	56145171	56145171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagcgtctgggacaatgTcacattcatcaatatctgtg	12	12	8	9	1	5	0	3	0	2	0	5	1	5	1	0	1	2	0	0	1	5	3	rs55849640	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:56145171T>C	ENST00000394555.2	-	4	581	c.146A>G	c.(145-147)gAc>gGc	p.D49G	EFEMP1_ENST00000355426.3_Missense_Mutation_p.D49G|EFEMP1_ENST00000394554.1_Missense_Mutation_p.D49G|EFEMP1_ENST00000424836.2_5'UTR	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	49	EGF-like 1; atypical.				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TGGGACAATGTCACATTCATC	0.373													C	56145171	T	C	56145171	3	2	313	1	0	0	0	0	1	0	0	0	4980	1667	58	3	1367	3	EFEMP1	2	56145171	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08		56145171	187054202	4	21166											
DCTN1	1639	broad.mit.edu	37	chr2	74595916	74595916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatggtccccacctggcCgaaggaagctgtcaggcatg	9	7	13	12	1	2	0	2	0	0	0	3	2	3	1	4	4	1	2	4	4	2	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:74595916C>T	ENST00000361874.3	-	16	2110	c.1793G>A	c.(1792-1794)cGg>cAg	p.R598Q	DCTN1_ENST00000394003.3_Missense_Mutation_p.R591Q|DCTN1_ENST00000409868.1_Missense_Mutation_p.R581Q|DCTN1_ENST00000407639.2_Missense_Mutation_p.R464Q|DCTN1_ENST00000409567.3_Missense_Mutation_p.R578Q|DCTN1_ENST00000409240.1_Missense_Mutation_p.R561Q|DCTN1_ENST00000409438.1_Missense_Mutation_p.R464Q	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	598					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CCCACCTGGCCGAAGGAAGCT	0.532													T	74595916	C	T	74595916	3	4	313	1	0	0	0	0	1	0	0	0	4340	652	23	1	2111	1	DCTN1	2	74595916	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	18450745	74595916	168603457	5	21167											
VWA3B	200403	broad.mit.edu	37	chr2	98928738	98928738	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcattgccacacctccacctCgagcagccctgccctgtact	7	9	6	19	1	1	0	1	0	0	0	3	1	2	0	6	0	5	2	6	0	1	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:98928738C>T	ENST00000477737.1	+	28	4015	c.3811C>T	c.(3811-3813)Cga>Tga	p.R1271*	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1271										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						ACCTCCACCTCGAGCAGCCCT	0.607													T	98928738	C	T	98928738	4	4	313	1	0	0	0	0	0	1	0	0	17343	876	31	1	3917	1	VWA3B	2	98928738	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	24332822	98928738	144270635	6	21168											
R3HDM1	23518	broad.mit.edu	37	chr2	136389572	136389575	+	Splice_Site	DEL	GTAA	GTAA	-																															aaaactagcaatacaagaatGtaagtgtcaagagatgtaac																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:136389572_136389575delGTAA	ENST00000264160.4	+	9	1068		c.e9+1		R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site|R3HDM1_ENST00000329971.3_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATACAAGAATGTAAGTGTCAAGAG	0.324													-	136389575	GTAA	-	136389572	8	5	313	1	0	1	0	1	0	0	1	0	12975	1391	48	0	725	0	R3HDM1	2	136389572	Splice_Site	DEL	GTAA	TCGA-DB-5281-01A-01D-1468-08	37460834	136389572	106809801	7	21169											
SCN3A	6328	broad.mit.edu	37	chr2	165970378	165970378	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgaaagtctcaaaccagTtgtgctcaacaatactgtag	15	10	7	9	0	2	1	2	1	1	0	3	1	2	1	1	0	4	3	1	0	7	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:165970378T>C	ENST00000360093.3	-	20	4108	c.3617A>G	c.(3616-3618)aAc>aGc	p.N1206S	SCN3A_ENST00000409101.3_Missense_Mutation_p.N1157S|SCN3A_ENST00000283254.7_Missense_Mutation_p.N1206S	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1206						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTCAAACCAGTTGTGCTCAAC	0.378													C	165970378	T	C	165970378	3	2	313	1	0	0	0	0	1	0	0	0	14011	1725	60	3	2421	3	SCN3A	2	165970378	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08	29580806	165970378	77228995	8	21170											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	313	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	43142734	209113112	34086261	9	21171											
COL4A3	1285	broad.mit.edu	37	chr2	228153927	228153927	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggatgccaggtttaaaGggcctcaaaggactacccgg	11	6	13	11	1	1	0	1	0	0	0	1	2	1	2	4	5	2	1	4	5	4	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr2:228153927G>A	ENST00000396578.3	+	35	3105	c.2943G>A	c.(2941-2943)aaG>aaA	p.K981K	AC097662.2_ENST00000439598.2_RNA|AC097662.2_ENST00000396588.2_RNA|AC097662.2_ENST00000433324.1_RNA	NM_000091.4	NP_000082.2	Q01955	CO4A3_HUMAN	collagen, type IV, alpha 3 (Goodpasture antigen)	981	Triple-helical region.				activation of caspase activity|axon guidance|blood circulation|cell adhesion|cell proliferation|cell surface receptor linked signaling pathway|glomerular basement membrane development|induction of apoptosis|negative regulation of angiogenesis|negative regulation of cell proliferation|sensory perception of sound	collagen type IV	extracellular matrix structural constituent|integrin binding|metalloendopeptidase inhibitor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_lung(227;0.00101)|Lung NSC(271;0.00278)|Renal(207;0.0112)|Ovarian(221;0.0129)|all_hematologic(139;0.211)|Esophageal squamous(248;0.247)		Epithelial(121;1.17e-46)|all cancers(144;6.87e-42)|Lung(261;0.0137)|LUSC - Lung squamous cell carcinoma(224;0.0187)		CAGGTTTAAAGGGCCTCAAAG	0.423													A	228153927	G	A	228153927	2	1	313	1	0	0	0	0	0	0	0	1	3722	991	35	2		2	COL4A3	2	228153927	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	19040815	228153927	15045446	10	21172											
C3orf18	51161	broad.mit.edu	37	chr3	50598380	50598380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctgcacagaagtagcagCctgtacagaggcggcgtccc	9	5	14	13	2	0	2	0	0	0	2	1	2	1	2	3	3	4	4	3	3	3	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr3:50598380C>A	ENST00000357203.3	-	5	915	c.376G>T	c.(376-378)Gct>Tct	p.A126S	C3orf18_ENST00000449241.1_Missense_Mutation_p.A126S|C3orf18_ENST00000486175.1_5'UTR|C3orf18_ENST00000426034.1_Missense_Mutation_p.A126S|C3orf18_ENST00000422619.1_Missense_Mutation_p.A74S|C3orf18_ENST00000441239.1_Missense_Mutation_p.A106S	NM_016210.4	NP_057294.2	Q9UK00	CC018_HUMAN	chromosome 3 open reading frame 18	126						integral to membrane				lung(1)|pancreas(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.0175)|Kidney(197;0.0207)		GAAGTAGCAGCCTGTACAGAG	0.637													A	50598380	C	A	50598380	3	1	313	1	0	0	0	0	1	0	0	0	2232	739	26	4	120	4	C3orf18	3	50598380	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		50598380	147424050	11	21173											
ANKRD17	26057	broad.mit.edu	37	chr4	73957066	73957066	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagaactgctgctgttTggaggtctagtgtttgttgt	7	15	13	6	0	1	2	0	0	1	2	1	3	1	3	1	2	3	5	1	2	3	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:73957066T>A	ENST00000358602.4	-	29	6395	c.6279A>T	c.(6277-6279)ccA>ccT	p.P2093P	ANKRD17_ENST00000330838.6_Silent_p.P1842P|ANKRD17_ENST00000509867.2_Silent_p.P1980P	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2093	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCTGCTGTTTGGAGGTCTAG	0.473													A	73957066	T	A	73957066	2	1	313	1	0	0	0	0	0	0	0	1	646	1799	63	5		5	ANKRD17	4	73957066	Silent	SNP	T	TCGA-DB-5281-01A-01D-1468-08		73957066	117197210	12	21174											
SPOCK3	50859	broad.mit.edu	37	chr4	167810286	167810287	+	Frame_Shift_Del	DEL	TT	TT	-																															atttttgtcacttacctctcTtaacatttctgcttgtactg																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr4:167810286_167810287delTT	ENST00000357154.3	-	7	729_730	c.592_593delAA	c.(592-594)aagfs	p.K198fs	SPOCK3_ENST00000511269.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000512648.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000512681.1_Frame_Shift_Del_p.K100fs|SPOCK3_ENST00000541354.1_Frame_Shift_Del_p.K78fs|SPOCK3_ENST00000510741.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000511531.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000504953.1_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000502330.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000421836.2_Frame_Shift_Del_p.K147fs|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000357545.4_Frame_Shift_Del_p.K195fs|SPOCK3_ENST00000535728.1_Frame_Shift_Del_p.K106fs|SPOCK3_ENST00000534949.1_Frame_Shift_Del_p.K102fs|SPOCK3_ENST00000506886.1_Frame_Shift_Del_p.K198fs|SPOCK3_ENST00000541637.1_Frame_Shift_Del_p.K100fs	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	198					signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		CTTACCTCTCTTAACATTTCTG	0.337													-	167810287	TT	-	167810286	7	5	313	1	0	1	0	1	0	0	0	0	15177	1609	56	0	741	0	SPOCK3	4	167810286	Frame_Shift_Del	DEL	TT	TCGA-DB-5281-01A-01D-1468-08	93853220	167810286	23343990	13	21175											
PRDM9	56979	broad.mit.edu	37	chr5	23527687	23527687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacacacacaggggagaaGccctatgtctgcagggagtg	12	5	15	9	0	1	1	0	0	1	1	1	4	1	3	1	4	2	1	1	4	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:23527687G>A	ENST00000296682.3	+	11	2672	c.2490G>A	c.(2488-2490)aaG>aaA	p.K830K		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	830					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAGGGGAGAAGCCCTATGTCT	0.587										HNSCC(3;0.000094)			A	23527687	G	A	23527687	2	1	313	1	0	0	0	0	0	0	0	1	12549	962	34	2		2	PRDM9	5	23527687	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08		23527687	157387573	14	21176											
FAM174A	345757	broad.mit.edu	37	chr5	99897847	99897847	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctttagaacaggatgAtgaggatgatgacaacacgt	15	8	11	7	1	0	5	0	4	0	1	0	8	0	7	1	2	2	0	1	2	3	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:99897847A>T	ENST00000312637.4	+	2	750	c.524A>T	c.(523-525)gAt>gTt	p.D175V	FAM174A_ENST00000505792.1_3'UTR	NM_198507.1	NP_940909.1	Q8TBP5	F174A_HUMAN	family with sequence similarity 174, member A	175						integral to membrane				breast(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GAACAGGATGATGAGGATGAT	0.383													T	99897847	A	T	99897847	3	4	313	1	0	0	0	0	1	0	0	0	5540	333	12	5	530	5	FAM174A	5	99897847	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	76370160	99897847	81017413	15	21177											
GFPT2	9945	broad.mit.edu	37	chr5	179744060	179744061	+	Splice_Site	DEL	TG	TG	-																															ataaacgcactgaagttaccTggtcaaataaacgtctggtc																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr5:179744060_179744061delTG	ENST00000253778.8	-	11	1128		c.e11-2		GFPT2_ENST00000520165.1_Splice_Site	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	TGAAGTTACCTGGTCAAATAAA	0.391													-	179744061	TG	-	179744060	8	5	313	1	0	1	0	1	0	0	1	0	6402	1594	55	0	1127	0	GFPT2	5	179744060	Splice_Site	DEL	TG	TCGA-DB-5281-01A-01D-1468-08	79846213	179744060	1171200	16	21178											
ZFP57	346171	broad.mit.edu	37	chr6	29641322	29641322	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaactggtggctatagaggTaggagcgcctgctgaaacat	12	8	13	8	1	0	2	0	1	0	1	0	3	0	3	1	4	4	3	1	4	5	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:29641322T>A	ENST00000376883.1	-	6	917	c.506A>T	c.(505-507)tAc>tTc	p.Y169F	ZFP57_ENST00000488757.1_Missense_Mutation_p.Y189F|ZFP57_ENST00000376881.3_Missense_Mutation_p.Y169F			Q9NU63	ZFP57_HUMAN	ZFP57 zinc finger protein	105					DNA methylation involved in embryo development|regulation of gene expression by genetic imprinting|transcription, DNA-dependent		DNA binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(16)|ovary(4)|skin(4)|urinary_tract(5)	44						GCTATAGAGGTAGGAGCGCCT	0.542													A	29641322	T	A	29641322	3	1	313	1	0	0	0	0	1	0	0	0	17752	1638	57	5	1048	5	ZFP57	6	29641322	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08		29641322	141473745	17	21179											
RSPH9	221421	broad.mit.edu	37	chr6	43612865	43612865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacagcctcctgctgtctctGgagctggcgtccggcagtgg	4	9	15	13	2	1	0	0	0	1	0	4	2	3	1	3	4	3	3	3	4	0	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:43612865G>A	ENST00000372165.4	+	1	83	c.30G>A	c.(28-30)ctG>ctA	p.L10L	RSPH9_ENST00000372163.4_Silent_p.L10L	NM_001193341.1	NP_001180270.1	Q9H1X1	RSPH9_HUMAN	radial spoke head 9 homolog (Chlamydomonas)	10					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						TGCTGTCTCTGGAGCTGGCGT	0.657									Kartagener syndrome				A	43612865	G	A	43612865	2	1	313	1	0	0	0	0	0	0	0	1	13799	1335	47	2		2	RSPH9	6	43612865	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	13971543	43612865	127502202	18	21180											
GJA1	2697	broad.mit.edu	37	chr6	121769068	121769068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacagccactagccattGtggaccagcgaccttcaagc	12	8	8	13	1	1	0	1	0	0	0	1	2	1	1	4	1	5	0	4	1	4	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:121769068G>T	ENST00000282561.3	+	2	1232	c.1075G>T	c.(1075-1077)Gtg>Ttg	p.V359L		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	359					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	ACTAGCCATTGTGGACCAGCG	0.493													T	121769068	G	T	121769068	3	4	313	1	0	0	0	0	1	0	0	0	6456	1377	48	4	1077	4	GJA1	6	121769068	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	78156203	121769068	49345999	19	21181											
MAP7	9053	broad.mit.edu	37	chr6	136683671	136683671	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctcttctcagctagaagCcttgtggcctcctctgggtc	4	12	10	15	1	3	1	1	0	3	1	6	1	4	1	4	2	2	1	4	2	2	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:136683671C>A	ENST00000354570.3	-	11	1853	c.1443G>T	c.(1441-1443)agG>agT	p.R481S	MAP7_ENST00000454590.1_Missense_Mutation_p.R503S|MAP7_ENST00000544465.1_Missense_Mutation_p.R466S|MAP7_ENST00000432797.2_Missense_Mutation_p.R335S|MAP7_ENST00000438100.2_Missense_Mutation_p.R466S	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	481					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CAGCTAGAAGCCTTGTGGCCT	0.567													A	136683671	C	A	136683671	3	1	313	1	0	0	0	0	1	0	0	0	9341	738	26	4	838	4	MAP7	6	136683671	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	14914603	136683671	34431396	20	21182											
REPS1	85021	broad.mit.edu	37	chr6	139247539	139247539	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctaagtgattgacttacaGgatcagctggtgcaatgtta	12	12	11	6	0	1	2	1	2	0	0	1	3	1	3	0	2	4	4	0	2	4	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr6:139247539G>C	ENST00000450536.2	-	10	1911	c.1337C>G	c.(1336-1338)cCt>cGt	p.P446R	REPS1_ENST00000258062.5_Splice_Site_p.P446R|REPS1_ENST00000409812.2_Intron|REPS1_ENST00000367663.4_Intron|REPS1_ENST00000415951.2_Intron			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	446						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TTGACTTACAGGATCAGCTGG	0.393													C	139247539	G	C	139247539	5	2	313	1	0	0	0	0	0	0	1	0	13316	1014	35	4	1097	4	REPS1	6	139247539	Splice_Site	SNP	G	TCGA-DB-5281-01A-01D-1468-08	2563868	139247539	31867528	21	21183											
MLXIPL	51085	broad.mit.edu	37	chr7	73011230	73011230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggaggagggtgctggataCaagtggtggctccagggctt	7	8	18	8	1	0	0	0	0	0	0	1	3	1	3	2	7	2	3	2	7	2	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr7:73011230C>G	ENST00000313375.3	-	10	1683	c.1636G>C	c.(1636-1638)Gta>Cta	p.V546L	MLXIPL_ENST00000414749.2_Missense_Mutation_p.V546L|MLXIPL_ENST00000395189.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000354613.1_Missense_Mutation_p.V546L|MLXIPL_ENST00000434326.1_Missense_Mutation_p.V453L|MLXIPL_ENST00000429400.2_Missense_Mutation_p.V546L	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	546					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTGCTGGATACAAGTGGTGGC	0.672													G	73011230	C	G	73011230	3	3	313	1	0	0	0	0	1	0	0	0	9712	478	17	4	954	4	MLXIPL	7	73011230	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		73011230	86127433	22	21184											
C8orf74	203076	broad.mit.edu	37	chr8	10557893	10557893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcccccacccctatccCgccccccatcaccagccacg	8	3	4	26	3	1	0	1	0	0	0	2	0	2	0	10	0	2	0	10	0	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr8:10557893C>T	ENST00000304519.5	+	4	826	c.797C>T	c.(796-798)cCg>cTg	p.P266L	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	266										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		ACCCCTATCCCGCCCCCCATC	0.587													T	10557893	C	T	10557893	3	4	313	1	0	0	0	0	1	0	0	0	2462	652	23	1	811	1	C8orf74	8	10557893	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		10557893	135806129	23	21185											
TGFBR1	7046	broad.mit.edu	37	chr9	101907133	101907133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattcagccacagataccAttgatattgctccaaaccac	14	10	5	12	0	1	3	1	2	0	1	2	3	2	3	4	0	4	1	4	0	3	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:101907133A>G	ENST00000374994.4	+	6	1210	c.1093A>G	c.(1093-1095)Att>Gtt	p.I365V	TGFBR1_ENST00000550253.1_Missense_Mutation_p.I296V|TGFBR1_ENST00000374990.2_Missense_Mutation_p.I288V|TGFBR1_ENST00000552516.1_Missense_Mutation_p.I369V	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	365	Protein kinase.				activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				CACAGATACCATTGATATTGC	0.348													G	101907133	A	G	101907133	3	3	313	1	0	0	0	0	1	0	0	0	15921	217	8	3	1115	3	TGFBR1	9	101907133	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08		101907133	39306298	24	21186											
C9orf96	169436	broad.mit.edu	37	chr9	136256485	136256485	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctccaacatcatcctcAtcagcagtgaccactgcaaa	14	7	4	16	0	3	1	3	1	0	0	5	1	5	1	4	0	4	2	4	0	3	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr9:136256485A>T	ENST00000371957.3	+	7	603	c.496A>T	c.(496-498)Atc>Ttc	p.I166F	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	SGK71_HUMAN	chromosome 9 open reading frame 96	166	Protein kinase.						ATP binding|protein kinase activity			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CATCATCCTCATCAGCAGTGA	0.552													T	136256485	A	T	136256485	3	4	313	1	0	0	0	0	1	0	0	0	2534	217	8	5	522	5	C9orf96	9	136256485	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	34349352	136256485	4956946	25	21187											
ADAMTS14	140766	broad.mit.edu	37	chr10	72493665	72493665	+	Frame_Shift_Del	DEL	G	G	-																															ggcatggagcatgacggtcaGgggaatggctgtgcagatga																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr10:72493665delG	ENST00000373208.1	+	8	1242	c.1242delG	c.(1240-1242)cagfs	p.Q414fs	ADAMTS14_ENST00000373207.1_Frame_Shift_Del_p.Q411fs	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	411	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						ATGACGGTCAGGGGAATGGCT	0.652													-	72493665	G	-	72493665	7	5	313	1	0	1	0	1	0	0	0	0	259	991	35	0	1272	0	ADAMTS14	10	72493665	Frame_Shift_Del	DEL	G	TCGA-DB-5281-01A-01D-1468-08		72493665	63041082	26	21188											
CD44	960	broad.mit.edu	37	chr11	35231542	35231542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcagagcttctctacatCacatgaaggcttggaagaag	12	11	9	9	0	3	3	2	1	2	2	5	4	3	4	0	2	2	2	0	2	4	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:35231542C>T	ENST00000428726.2	+	13	1670	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	CD44_ENST00000278386.6_Intron|CD44_ENST00000415148.2_Missense_Mutation_p.S473L|CD44_ENST00000437706.2_Missense_Mutation_p.S516L|CD44_ENST00000433892.2_Missense_Mutation_p.S267L|CD44_ENST00000434472.2_Intron|CD44_ENST00000526669.2_Intron|CD44_ENST00000433354.2_Intron|CD44_ENST00000263398.6_Intron|CD44_ENST00000449691.2_Missense_Mutation_p.S473L|CD44_ENST00000352818.4_Intron|CD44_ENST00000360158.4_Intron	NM_000610.3	NP_000601.3	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	516	Stem.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TTCTCTACATCACATGAAGGC	0.388													T	35231542	C	T	35231542	3	4	313	1	0	0	0	0	1	0	0	0	3047	838	29	2	1597	2	CD44	11	35231542	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		35231542	99774974	27	21189											
TMEM132A	54972	broad.mit.edu	37	chr11	60703701	60703701	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtaaacggcaggtggcAggcagtgtcgggggcaacac	9	5	19	8	2	0	0	0	0	0	0	1	0	0	0	0	8	2	5	0	8	3	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:60703701A>T	ENST00000005286.4	+	11	2550	c.2397A>T	c.(2395-2397)gcA>gcT	p.A799A	TMEM132A_ENST00000453848.2_Silent_p.A798A	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	798	Binds to HSPA5/GRP78 (By similarity).|Confers cellular localization similar to full-length form (By similarity).					endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						GGCAGGTGGCAGGCAGTGTCG	0.662													T	60703701	A	T	60703701	2	4	313	1	0	0	0	0	0	0	0	1	16145	175	7	5		5	TMEM132A	11	60703701	Silent	SNP	A	TCGA-DB-5281-01A-01D-1468-08	25472159	60703701	74302815	28	21190											
MTL5	9633	broad.mit.edu	37	chr11	68480850	68480850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaatttttggctggaaaGcttctggatttctaccaaga	10	14	8	9	0	2	1	0	0	2	1	3	3	3	3	2	3	2	2	2	3	4	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:68480850G>A	ENST00000255087.5	-	8	1229	c.1046C>T	c.(1045-1047)gCt>gTt	p.A349V		NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	349					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			TGGCTGGAAAGCTTCTGGATT	0.468													A	68480850	G	A	68480850	3	1	313	1	0	0	0	0	1	0	0	0	10012	971	34	2	492	2	MTL5	11	68480850	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	7777149	68480850	66525666	29	21191											
LRRC32	2615	broad.mit.edu	37	chr11	76371899	76371899	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcccgcaggtcaagccaGgtgagctggaactcagcctg	8	8	12	13	1	3	1	2	1	1	0	4	2	3	2	3	3	4	2	3	3	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:76371899G>C	ENST00000407242.2	-	3	980	c.738C>G	c.(736-738)acC>acG	p.T246T	LRRC32_ENST00000260061.5_Silent_p.T246T|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Silent_p.T246T|AP001189.4_ENST00000447519.1_RNA	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	246						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GGTCAAGCCAGGTGAGCTGGA	0.617													C	76371899	G	C	76371899	2	2	313	1	0	0	0	0	0	0	0	1	9057	987	35	4		4	LRRC32	11	76371899	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	7891049	76371899	58634617	30	21192											
MAML2	84441	broad.mit.edu	37	chr11	95826019	95826019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagggcagagttggccatGgagaatgcggggccagctga	10	5	19	7	1	0	4	0	1	0	3	0	6	0	4	2	5	2	3	2	5	1	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr11:95826019G>A	ENST00000524717.1	-	2	2460	c.1176C>T	c.(1174-1176)tcC>tcT	p.S392S		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	392					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				AGTTGGCCATGGAGAATGCGG	0.597			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								A	95826019	G	A	95826019	2	1	313	1	0	0	0	0	0	0	0	1	9281	1335	47	2		2	MAML2	11	95826019	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	19454120	95826019	39180497	31	21193											
DPPA3	359787	broad.mit.edu	37	chr12	7864237	7864237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcaccgaagaaaattcccGggacgattcaggtaagccag	13	6	11	11	3	2	1	2	0	0	1	3	4	3	2	3	2	1	2	3	2	4	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:7864237G>A	ENST00000345088.2	+	1	188	c.71G>A	c.(70-72)cGg>cAg	p.R24Q		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	24						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAAATTCCCGGGACGATTCA	0.458													A	7864237	G	A	7864237	3	1	313	1	0	0	0	0	1	0	0	0	4774	1116	39	1	73	1	DPPA3	12	7864237	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08		7864237	125987658	32	21194											
AICDA	57379	broad.mit.edu	37	chr12	8757943	8757943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaggttggggttccctcGcagaaagtcggccacatgtc	8	9	13	11	2	0	2	0	1	0	1	4	2	1	2	2	4	0	3	2	4	1	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:8757943G>A	ENST00000229335.6	-	3	398	c.295C>T	c.(295-297)Cga>Tga	p.R99*	AICDA_ENST00000537228.1_Nonsense_Mutation_p.R99*	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	99					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GGGTTCCCTCGCAGAAAGTCG	0.667													A	8757943	G	A	8757943	4	1	313	1	0	0	0	0	0	1	0	0	422	1095	38	1	313	1	AICDA	12	8757943	Nonsense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	893706	8757943	125093952	33	21195											
RARG	5916	broad.mit.edu	37	chr12	53609147	53609147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgattcctggtcaccttGttgatgatacagtttttgtc	7	16	9	9	1	1	2	1	2	0	0	3	3	2	2	2	1	2	2	2	1	1	6			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:53609147G>A	ENST00000425354.2	-	5	892	c.405C>T	c.(403-405)aaC>aaT	p.N135N	RARG_ENST00000327550.3_Silent_p.N63N|RARG_ENST00000394426.1_Silent_p.N135N|RARG_ENST00000338561.5_Silent_p.N124N|RARG_ENST00000543726.1_Silent_p.N113N|RARG_ENST00000543762.1_5'UTR	NM_000966.5	NP_000957.1	P13631	RARG_HUMAN	retinoic acid receptor, gamma	135					canonical Wnt receptor signaling pathway|embryonic eye morphogenesis|embryonic hindlimb morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|regulation of cell size|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid	integral to membrane|transcription factor complex	retinoic acid receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGGTCACCTTGTTGATGATAC	0.547													A	53609147	G	A	53609147	2	1	313	1	0	0	0	0	0	0	0	1	13142	1368	48	2		2	RARG	12	53609147	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	44851204	53609147	80242748	34	21196											
NACA	4666	broad.mit.edu	37	chr12	57110586	57110586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggactggaggcctctttGgaggatggggtagctggggc	5	8	22	6	0	1	0	0	0	1	0	1	4	1	4	1	10	1	2	1	10	1	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:57110586G>A	ENST00000454682.1	-	3	5009	c.4728C>T	c.(4726-4728)tcC>tcT	p.S1576S	NACA_ENST00000546392.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						AGGCCTCTTTGGAGGATGGGG	0.582			T	BCL6	NHL								A	57110586	G	A	57110586	2	1	313	1	0	0	0	0	0	0	0	1	10209	1335	47	2		2	NACA	12	57110586	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	3501439	57110586	76741309	35	21197											
C12orf66	144577	broad.mit.edu	37	chr12	64588283	64588283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctcaaagatctggcccCacgtctgcagtttggtgtgc	6	13	11	11	1	3	1	1	0	3	1	4	1	3	1	2	2	2	3	2	2	1	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:64588283C>A	ENST00000311915.8	-	3	704	c.677G>T	c.(676-678)tGg>tTg	p.W226L	C12orf66_ENST00000544871.1_Missense_Mutation_p.W173L|C12orf66_ENST00000398055.3_Missense_Mutation_p.W226L			Q96MD2	CL066_HUMAN	chromosome 12 open reading frame 66	226										central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)	5						GATCTGGCCCCACGTCTGCAG	0.537													A	64588283	C	A	64588283	3	1	313	1	0	0	0	0	1	0	0	0	1722	595	21	4	664	4	C12orf66	12	64588283	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	7477697	64588283	69263612	36	21198											
ACSS3	79611	broad.mit.edu	37	chr12	81647382	81647382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtgtttgtcaaacagctacCcaaaaccagatctggcaaga	15	8	8	10	0	2	2	1	0	1	2	2	2	2	2	2	1	4	3	2	1	5	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr12:81647382C>T	ENST00000548058.1	+	15	2838	c.1928C>T	c.(1927-1929)cCc>cTc	p.P643L	ACSS3_ENST00000548324.1_Missense_Mutation_p.P325L|ACSS3_ENST00000261206.3_Missense_Mutation_p.P642L			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	643						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						AAACAGCTACCCAAAACCAGA	0.428													T	81647382	C	T	81647382	3	4	313	1	0	0	0	0	1	0	0	0	190	623	22	2	1986	2	ACSS3	12	81647382	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	17059099	81647382	52204513	37	21199											
RNF17	56163	broad.mit.edu	37	chr13	25425618	25425618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaacacaacatggccattaCctgtgaaaattttctgcaga	15	10	6	10	0	1	2	0	1	1	1	1	2	1	2	2	1	4	1	2	1	5	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:25425618C>T	ENST00000255324.5	+	24	3281	c.3229C>T	c.(3229-3231)Cct>Tct	p.P1077S	RNF17_ENST00000381921.1_Missense_Mutation_p.P1077S|RNF17_ENST00000339524.3_Missense_Mutation_p.P129S	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1077					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATGGCCATTACCTGTGAAAAT	0.343													T	25425618	C	T	25425618	3	4	313	1	0	0	0	0	1	0	0	0	13552	507	18	2	3323	2	RNF17	13	25425618	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		25425618	89744260	38	21200											
CCNA1	8900	broad.mit.edu	37	chr13	37015366	37015366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgtgaacaagcactttTgggtaagattctaacttctt	12	15	7	7	0	2	2	0	1	2	1	2	2	2	2	0	1	4	2	0	1	5	8			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37015366T>C	ENST00000418263.1	+	7	1557	c.1207T>C	c.(1207-1209)Tgg>Cgg	p.W403R	CCNA1_ENST00000440264.1_Missense_Mutation_p.W360R|CCNA1_ENST00000449823.1_Missense_Mutation_p.W360R|CCNA1_ENST00000255465.4_Missense_Mutation_p.W404R	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	404					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		CAAGCACTTTTGGGTAAGATT	0.398													C	37015366	T	C	37015366	3	2	313	1	0	0	0	0	1	0	0	0	2939	1812	63	3	1236	3	CCNA1	13	37015366	Missense_Mutation	SNP	T	TCGA-DB-5281-01A-01D-1468-08	11589748	37015366	78154512	39	21201											
SMAD9	4093	broad.mit.edu	37	chr13	37427768	37427768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgctgctgtcactcaCgcactcggcatacacctctc	10	9	7	15	2	3	1	2	0	1	1	5	1	3	1	1	1	3	4	1	1	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:37427768C>T	ENST00000379826.4	-	6	1390	c.1048G>A	c.(1048-1050)Gtg>Atg	p.V350M	SMAD9_ENST00000399275.2_Missense_Mutation_p.V350M|SMAD9_ENST00000350148.5_Missense_Mutation_p.V313M	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	350	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		CTGTCACTCACGCACTCGGCA	0.562													T	37427768	C	T	37427768	3	4	313	1	0	0	0	0	1	0	0	0	14858	536	19	1	363	1	SMAD9	13	37427768	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	412402	37427768	77742110	40	21202											
MYCBP2	23077	broad.mit.edu	37	chr13	77714188	77714188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatcaattacctcatcAataaaagtgatagttccatt	14	15	3	9	0	3	1	3	1	0	0	4	1	4	1	3	0	1	1	3	0	7	7			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr13:77714188A>C	ENST00000407578.2	-	51	7778	c.7512T>G	c.(7510-7512)atT>atG	p.I2504M	MYCBP2_ENST00000360084.5_De_novo_Start_InFrame|MYCBP2_ENST00000357337.6_Missense_Mutation_p.I2466M|MYCBP2_ENST00000544440.2_Missense_Mutation_p.I2466M	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	2466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTACCTCATCAATAAAAGTGA	0.398													C	77714188	A	C	77714188	3	2	313	1	0	0	0	0	1	0	0	0	10094	126	5	5	6656	5	MYCBP2	13	77714188	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	40286420	77714188	37455690	41	21203											
TC2N	123036	broad.mit.edu	37	chr14	92268745	92268745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttctacctttcgatctcCaaaagatgctctggcagatc	11	12	7	11	1	3	2	0	0	3	2	6	3	3	2	2	1	2	3	2	1	4	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr14:92268745C>T	ENST00000435962.2	-	4	645	c.322G>A	c.(322-324)Gga>Aga	p.G108R	TC2N_ENST00000360594.5_Missense_Mutation_p.G108R|TC2N_ENST00000556018.1_Missense_Mutation_p.G108R|TC2N_ENST00000340892.5_Missense_Mutation_p.G108R	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	108						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		TTTCGATCTCCAAAAGATGCT	0.403													T	92268745	C	T	92268745	3	4	313	1	0	0	0	0	1	0	0	0	15765	603	21	2	1186	2	TC2N	14	92268745	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		92268745	15080795	42	21204											
DYX1C1	161582	broad.mit.edu	37	chr15	55742505	55742505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaatactgccaacagagCgaggagcaggaatactgtct	13	10	10	8	1	1	1	0	0	1	1	1	4	1	3	1	2	6	1	1	2	5	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:55742505C>T	ENST00000321149.3	-	6	1065	c.698G>A	c.(697-699)cGc>cAc	p.R233H	DYX1C1_ENST00000380679.1_Missense_Mutation_p.R233H|DYX1C1_ENST00000448430.2_Missense_Mutation_p.R233H|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.R233H|DYX1C1_ENST00000457155.2_Missense_Mutation_p.R233H	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	233					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		GCCAACAGAGCGAGGAGCAGG	0.378													T	55742505	C	T	55742505	3	4	313	1	0	0	0	0	1	0	0	0	4901	768	27	1	687	1	DYX1C1	15	55742505	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		55742505	46788887	43	21205											
ALDH1A3	220	broad.mit.edu	37	chr15	101447398	101447398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaaagagcgaatagcaccGactatggactcacagcagcc	16	5	9	11	2	1	1	1	0	0	1	1	4	1	2	2	1	4	2	2	1	6	3	rs145630728	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr15:101447398G>A	ENST00000329841.5	+	11	1838	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	ALDH1A3_ENST00000346623.6_Missense_Mutation_p.D329N|RP11-66B24.4_ENST00000560351.1_RNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	436					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	GAATAGCACCGACTATGGACT	0.438													A	101447398	G	A	101447398	3	1	313	1	0	0	0	0	1	0	0	0	492	1058	37	1	1348	1	ALDH1A3	15	101447398	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	45704893	101447398	1083994	44	21206											
TNRC6A	27327	broad.mit.edu	37	chr16	24802981	24802981	+	Silent	SNP	A	A	C																															gagattgatgatggaacttcAgcttggggagatccaagcaa																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802981A>C	ENST00000395799.3	+	6	3147	c.3018A>C	c.(3016-3018)tcA>tcC	p.S1006S	TNRC6A_ENST00000315183.7_Silent_p.S1006S	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1006	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		ATGGAACTTCAGCTTGGGGAG	0.473													C	24802981	A	C	24802981	2	2	313	1	0	0	0	0	0	0	0	1	16440	175	7	5		5	TNRC6A	16	24802981	Silent	SNP	A	TCGA-DB-5281-01A-01D-1468-08		24802981	65551772	45	21207	28	2									
TNRC6A	27327	broad.mit.edu	37	chr16	24802982	24802982	+	Missense_Mutation	SNP	G	G	C																															agattgatgatggaacttcaGcttggggagatccaagcaaa																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr16:24802982G>C	ENST00000395799.3	+	6	3148	c.3019G>C	c.(3019-3021)Gct>Cct	p.A1007P	TNRC6A_ENST00000315183.7_Missense_Mutation_p.A1007P	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1007	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGAACTTCAGCTTGGGGAGA	0.468													C	24802982	G	C	24802982	3	2	313	1	0	0	0	0	1	0	0	0	16440	971	34	4	3041	4	TNRC6A	16	24802982	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	1	24802982	65551771	46	21208	28	2									
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	313	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		7577538	73617672	47	21209											
TP53	7157	broad.mit.edu	37	chr17	7579694	7579699	+	Splice_Site	DEL	CCTTAC	CCTTAC	-																															gtccccagcccaacccttgtCcttaccagaacgttgttttc																										TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:7579694_7579699delCCTTAC	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		cAACCCTTGTCCTTACCAGAACGTTG	0.587		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)			-	7579699	CCTTAC	-	7579694	8	5	313	1	0	1	0	1	0	0	1	0	16482	870	30	0		0	TP53	17	7579694	Splice_Site	DEL	CCTTAC	TCGA-DB-5281-01A-01D-1468-08	2156	7579694	73615516	48	21210											
NEK8	284086	broad.mit.edu	37	chr17	27068158	27068158	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgggcaccaatactcgcCgaggcagtcgggcaccctgt	8	7	13	13	3	0	0	0	0	0	0	2	1	0	0	3	3	1	4	3	3	2	2			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr17:27068158C>T	ENST00000268766.6	+	13	1829	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	599						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAATACTCGCCGAGGCAGTCG	0.572													T	27068158	C	T	27068158	4	4	313	1	0	0	0	0	0	1	0	0	10406	644	23	1	1845	1	NEK8	17	27068158	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	19488464	27068158	54127052	49	21211											
MUC16	94025	broad.mit.edu	37	chr19	9082521	9082521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcttcttctgcaatggtCtggcttgaggttaactcagg	6	14	10	11	0	5	1	1	1	4	0	5	1	5	1	1	4	2	3	1	4	2	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:9082521C>A	ENST00000397910.4	-	1	9497	c.9294G>T	c.(9292-9294)caG>caT	p.Q3098H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3099	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						CTGCAATGGTCTGGCTTGAGG	0.478													A	9082521	C	A	9082521	3	1	313	1	0	0	0	0	1	0	0	0	10049	912	32	4	34565	4	MUC16	19	9082521	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		9082521	50046462	50	21212											
KANK2	25959	broad.mit.edu	37	chr19	11303539	11303539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcagcttcgctctgtgatgCtaatcttcttcaccatatgg	7	14	8	12	2	4	1	1	1	3	0	5	1	4	1	1	1	2	4	1	1	2	5			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:11303539C>T	ENST00000432929.2	-	4	1577	c.1217G>A	c.(1216-1218)aGc>aAc	p.S406N	KANK2_ENST00000355150.5_Missense_Mutation_p.S406N|KANK2_ENST00000589894.1_Missense_Mutation_p.S406N|KANK2_ENST00000589359.1_Missense_Mutation_p.S406N|KANK2_ENST00000586659.1_Missense_Mutation_p.S406N	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	406										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						CTCTGTGATGCTAATCTTCTT	0.612													T	11303539	C	T	11303539	3	4	313	1	0	0	0	0	1	0	0	0	8035	797	28	2	1402	2	KANK2	19	11303539	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	2221018	11303539	47825444	51	21213											
ZNF20	7568	broad.mit.edu	37	chr19	12244606	12244606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catattcctgatactcagatGacttgtgtccagtgtcagct	9	14	8	10	0	2	3	2	2	0	1	4	3	4	3	2	0	2	1	2	0	2	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:12244606G>A	ENST00000334213.5	-	4	619	c.395C>T	c.(394-396)tCa>tTa	p.S132L	ZNF20_ENST00000600335.1_Intron|ZNF20_ENST00000485451.1_5'UTR|ZNF625-ZNF20_ENST00000430024.1_3'UTR	NM_001203250.1|NM_021143.3	NP_001190179.1|NP_066966.2	P17024	ZNF20_HUMAN	zinc finger protein 20	132					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|lung(6)	8						ATACTCAGATGACTTGTGTCC	0.408													A	12244606	G	A	12244606	3	1	313	1	0	0	0	0	1	0	0	0	17862	1294	45	2	1207	2	ZNF20	19	12244606	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	941067	12244606	46884377	52	21214											
SLC1A6	6511	broad.mit.edu	37	chr19	15073101	15073101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcacccggctcagacccGttctctgtcctcaccatggt	6	9	10	16	2	3	1	2	0	1	1	5	2	4	1	4	3	0	3	4	3	0	1	rs150916469	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:15073101G>A	ENST00000598504.1	-	8	2007	c.648C>T	c.(646-648)aaC>aaT	p.N216N	SLC1A6_ENST00000221742.3_Silent_p.N216N|SLC1A6_ENST00000544886.2_Silent_p.N216N|SLC1A6_ENST00000600144.1_Silent_p.N216N|SLC1A6_ENST00000430939.2_Silent_p.N152N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	216					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTCAGACCCGTTCTCTGTCC	0.557													A	15073101	G	A	15073101	2	1	313	1	0	0	0	0	0	0	0	1	14530	1136	40	1		1	SLC1A6	19	15073101	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08	2828495	15073101	44055882	53	21215											
HNRNPL	3191	broad.mit.edu	37	chr19	39328114	39328114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtccagaggagctgcGctcacctgattgcaaaccaa	12	6	10	13	1	1	2	1	1	0	1	2	3	2	3	3	1	5	4	3	1	2	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:39328114G>A	ENST00000221419.5	-	12	1987	c.1621C>T	c.(1621-1623)Cgc>Tgc	p.R541C	AC104534.3_ENST00000594769.1_Silent_p.S157S|HNRNPL_ENST00000600873.1_Missense_Mutation_p.R408C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	541					nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GAGGAGCTGCGCTCACCTGAT	0.512													A	39328114	G	A	39328114	3	1	313	1	0	0	0	0	1	0	0	0	7325	1087	38	1	156	1	HNRNPL	19	39328114	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	24255013	39328114	19800869	54	21216											
ZNF845	91664	broad.mit.edu	37	chr19	53854880	53854880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagcccttgtaattcatAaggcaattcatactggagag	13	12	8	8	0	3	1	3	0	0	1	3	2	3	1	1	2	2	2	1	2	4	7			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:53854880A>G	ENST00000458035.1	+	4	1069	c.952A>G	c.(952-954)Aag>Gag	p.K318E	ZNF845_ENST00000595091.1_Missense_Mutation_p.K318E	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TGTAATTCATAAGGCAATTCA	0.413													G	53854880	A	G	53854880	3	3	313	1	0	0	0	0	1	0	0	0	18290	363	13	3	962	3	ZNF845	19	53854880	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	14526766	53854880	5274103	55	21217											
LILRB5	10990	broad.mit.edu	37	chr19	54754843	54754843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggtgggggtggggAggcctgggggcctggagagg	5	5	26	5	1	0	1	0	0	0	1	0	4	0	3	2	11	1	0	2	11	1	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:54754843A>G	ENST00000450632.1	-	13	1869	c.1792T>C	c.(1792-1794)Tcc>Ccc	p.S598P	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	423					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGGGGTGGGGAGGCCTGGGGG	0.607													G	54754843	A	G	54754843	3	3	313	1	0	0	0	0	1	0	0	0	8854	319	11	3		3	LILRB5	19	54754843	Missense_Mutation	SNP	A	TCGA-DB-5281-01A-01D-1468-08	899963	54754843	4374140	56	21218											
NLRP4	147945	broad.mit.edu	37	chr19	56369610	56369610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatcaaacccgtgtgccCgaaggagctccgggatcagg	9	6	13	13	4	2	0	2	0	0	0	3	3	3	2	3	3	3	2	3	3	3	1			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:56369610C>T	ENST00000301295.6	+	3	1273	c.851C>T	c.(850-852)cCg>cTg	p.P284L	NLRP4_ENST00000346986.5_Missense_Mutation_p.P284L|NLRP4_ENST00000587891.1_Missense_Mutation_p.P209L	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	284	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CCCGTGTGCCCGAAGGAGCTC	0.537													T	56369610	C	T	56369610	3	4	313	1	0	0	0	0	1	0	0	0	10555	652	23	1	857	1	NLRP4	19	56369610	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	1614767	56369610	2759373	57	21219											
ZNF71	58491	broad.mit.edu	37	chr19	57132875	57132875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttagggggctcagtacccGcatgtcatgaactgaaggca	10	9	12	10	1	3	2	2	2	1	0	3	2	3	2	1	3	2	4	1	3	4	2	rs141566979	byFrequency	TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr19:57132875G>A	ENST00000328070.6	+	3	454	c.220G>A	c.(220-222)Gca>Aca	p.A74T		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	74						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A74T(1)		endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CTCAGTACCCGCATGTCATGA	0.617													A	57132875	G	A	57132875	3	1	313	1	0	0	0	0	1	0	0	0	18215	1087	38	1	222	1	ZNF71	19	57132875	Missense_Mutation	SNP	G	TCGA-DB-5281-01A-01D-1468-08	763265	57132875	1996108	58	21220											
NSFL1C	55968	broad.mit.edu	37	chr20	1426390	1426390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttgtggtaggctctgattCgtcgattaagatggaagagc	9	13	14	5	2	1	3	0	1	1	2	3	5	1	4	0	3	1	3	0	3	3	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr20:1426390C>T	ENST00000216879.4	-	8	1738	c.871G>A	c.(871-873)Gaa>Aaa	p.E291K	NSFL1C_ENST00000461211.1_5'UTR|NSFL1C_ENST00000381658.4_Missense_Mutation_p.E180K|NSFL1C_ENST00000476071.1_Missense_Mutation_p.E293K|NSFL1C_ENST00000350991.4_Missense_Mutation_p.E293K|NSFL1C_ENST00000353088.2_Missense_Mutation_p.E260K	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	291	UBX.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						GGCTCTGATTCGTCGATTAAG	0.532													T	1426390	C	T	1426390	3	4	313	1	0	0	0	0	1	0	0	0	10748	893	31	1	249	1	NSFL1C	20	1426390	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		1426390	61599130	59	21221											
ATP5O	539	broad.mit.edu	37	chr21	35288047	35288047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgccgggagagcccGgacactgctggggcagccat	7	5	14	15	2	1	1	1	0	0	1	1	3	1	2	4	4	4	2	4	4	0	0			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chr21:35288047G>A	ENST00000290299.2	-	1	237	c.21C>T	c.(19-21)tcC>tcT	p.S7S	LINC00649_ENST00000598119.1_RNA|LINC00649_ENST00000596365.1_RNA|LINC00649_ENST00000597626.1_RNA	NM_001697.2	NP_001688.1			ATP synthase, H+ transporting, mitochondrial F1 complex, O subunit											large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	5						GGGAGAGCCCGGACACTGCTG	0.652													A	35288047	G	A	35288047	2	1	313	1	0	0	0	0	0	0	0	1	1167	1103	39	1		1	ATP5O	21	35288047	Silent	SNP	G	TCGA-DB-5281-01A-01D-1468-08		35288047	12841848	60	21222											
BEND2	139105	broad.mit.edu	37	chrX	18234679	18234679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacggtgatggccatcattgCcgcctggaaaatttggttgt	8	12	13	8	2	1	1	1	1	0	0	1	3	1	2	3	4	1	1	3	4	2	3			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:18234679C>T	ENST00000380033.4	-	2	332	c.200G>A	c.(199-201)gGc>gAc	p.G67D	BEND2_ENST00000380030.3_Missense_Mutation_p.G67D	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	67										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GCCATCATTGCCGCCTGGAAA	0.408													T	18234679	C	T	18234679	3	4	313	1	0	0	0	0	1	0	0	0	1403	739	26	2	2277	2	BEND2	23	18234679	Missense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08		18234679	137035881	61	21223											
ATRX	546	broad.mit.edu	37	chrX	76940083	76940083	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccaccttccgcacacCacctgaaatgttttaaagat	12	12	5	12	1	0	2	0	1	0	1	2	2	2	2	5	0	0	3	5	0	3	4			TCGA-DB-5281-01A-01D-1468-08	TCGA-DB-5281-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccf3d939-7964-4cc0-b2f6-e7cb8ee026a1	b8f9db26-3096-4ad2-9b45-530bccdc8612	g.chrX:76940083C>T	ENST00000373344.5	-	9	879	c.665G>A	c.(664-666)tGg>tAg	p.W222*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.W184*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	222	ADD.		W -> S (in ATRX).		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)	TTCCGCACACCACCTGAAATG	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76940083	C	T	76940083	4	4	313	1	0	0	0	0	0	1	0	0	1213	595	21	2	6921	2	ATRX	23	76940083	Nonsense_Mutation	SNP	C	TCGA-DB-5281-01A-01D-1468-08	58705404	76940083	78330477	62	21224											
CYP4A11	1579	broad.mit.edu	37	chr1	47395834	47395834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttagggagcctcctgagacGcaggtggattccatttttgg	7	12	14	8	1	0	1	0	1	0	1	2	4	2	3	3	4	1	2	3	4	1	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:47395834G>A	ENST00000310638.4	-	12	1544	c.1513C>T	c.(1513-1515)Cgt>Tgt	p.R505C	CYP4A11_ENST00000371904.4_Missense_Mutation_p.R506C|CYP4A11_ENST00000462347.1_Missense_Mutation_p.R407C	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	505			NGIHLRLRRLPNPCEDKDQL -> MESTCVSGGSLTLVKTR TSFEGLHLPSCLPDPRFCPLPVCPYPVFCLPTFPSSHLPAV PQSACPSLSHLSPGLPTCLSTCLLPTCISCWEKS (in CYP4A11V).		long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					NADH(DB00157)	CTCCTGAGACGCAGGTGGATT	0.587													A	47395834	G	A	47395834	3	1	314	1	0	0	0	0	1	0	0	0	4216	1087	38	1	50	1	CYP4A11	1	47395834	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		47395834	201854787	1	21225											
GNG12	55970	broad.mit.edu	37	chr1	68171150	68171151	+	Frame_Shift_Ins	INS	-	-	T																															ccactataagatgatgcaagINStttttttatccttgaaaggg																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:68171150_68171151insT	ENST00000370982.3	-	4	401_402	c.202_203insA	c.(202-204)actfs	p.T68fs		NM_018841.5	NP_061329.3	Q9UBI6	GBG12_HUMAN	guanine nucleotide binding protein (G protein), gamma 12	68					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	heterotrimeric G-protein complex	signal transducer activity			lung(3)	3						GATGATGCAAGTTTTTTTATCC	0.436													T	68171151	-	T	68171150	7	5	314	1	0	1	1	0	0	0	0	0	6581	1029	36	0	19	0	GNG12	1	68171150	Frame_Shift_Ins	INS	-	TCGA-DB-A4X9-01A-11D-A26M-08	20775316	68171150	181079471	2	21226											
DCLRE1B	64858	broad.mit.edu	37	chr1	114453833	114453833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtattgagtcctcggCgcctggagttggtacagcta	6	11	16	8	2	0	1	0	1	0	0	2	2	1	2	2	5	2	4	2	5	3	5			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:114453833C>T	ENST00000369563.3	+	4	1065	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	207					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGTCCTCGGCGCCTGGAGTT	0.532								Other identified genes with known or suspected DNA repair function					T	114453833	C	T	114453833	3	4	314	1	0	0	0	0	1	0	0	0	4329	768	27	1	633	1	DCLRE1B	1	114453833	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	46282683	114453833	134796788	3	21227											
NUP210L	91181	broad.mit.edu	37	chr1	153995731	153995731	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccttgggctgtgtataGcttgggttggctgctcactc	3	15	12	11	0	1	0	1	0	0	0	3	0	2	0	2	3	2	6	2	3	2	6			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:153995731G>A	ENST00000368559.3	-	31	4236	c.4165C>T	c.(4165-4167)Cta>Tta	p.L1389L	NUP210L_ENST00000271854.3_Silent_p.L1389L|NUP210L_ENST00000368553.1_Silent_p.L322L	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1389						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			GCTGTGTATAGCTTGGGTTGG	0.493													A	153995731	G	A	153995731	2	1	314	1	0	0	0	0	0	0	0	1	10837	962	34	2		2	NUP210L	1	153995731	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	39541898	153995731	95254890	4	21228											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179819995	179819995	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctggggccagcagtcGcctcctcagtgtatcctcac	6	10	9	16	1	2	0	2	0	0	0	5	0	4	0	5	2	2	2	5	2	2	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:179819995G>A	ENST00000367612.3	-	4	925	c.538C>T	c.(538-540)Cga>Tga	p.R180*	TOR1AIP2_ENST00000609928.1_Nonsense_Mutation_p.R180*	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	180						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GCCAGCAGTCGCCTCCTCAGT	0.542													A	179819995	G	A	179819995	4	1	314	1	0	0	0	0	0	1	0	0	16474	1095	38	1	886	1	TOR1AIP2	1	179819995	Nonsense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	25824264	179819995	69430626	5	21229											
OR2T2	401992	broad.mit.edu	37	chr1	248616320	248616320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcatggataccatctaCatctgtatcactgtccccaa	11	12	4	14	0	4	0	2	0	2	0	6	1	6	1	4	1	2	1	4	1	4	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr1:248616320C>T	ENST00000342927.3	+	1	244	c.222C>T	c.(220-222)taC>taT	p.Y74Y		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATACCATCTACATCTGTATCA	0.527													T	248616320	C	T	248616320	2	4	314	1	0	0	0	0	0	0	0	1	11096	489	17	2		2	OR2T2	1	248616320	Silent	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	68796325	248616320	634301	6	21230											
TLK1	9874	broad.mit.edu	37	chr2	171871388	171871388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcttcattgtttattcttTtcagctcacgtatgtgaaga	9	19	6	7	1	5	2	3	1	2	1	5	2	5	2	0	0	1	3	0	0	4	9			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:171871388T>C	ENST00000442919.2	-	13	1778	c.1163A>G	c.(1162-1164)aAa>aGa	p.K388R	TLK1_ENST00000521943.1_Missense_Mutation_p.K388R|TLK1_ENST00000431350.2_Missense_Mutation_p.K436R|TLK1_ENST00000434911.2_Missense_Mutation_p.K340R|TLK1_ENST00000360843.3_Missense_Mutation_p.K457R	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	436					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						GTTTATTCTTTTCAGCTCACG	0.378													C	171871388	T	C	171871388	3	2	314	1	0	0	0	0	1	0	0	0	16043	1841	64	3	1029	3	TLK1	2	171871388	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08		171871388	71327985	7	21231											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	314	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	37241724	209113112	34086261	8	21232											
ERBB4	2066	broad.mit.edu	37	chr2	212587211	212587211	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggattgtagacaaaggtttGgggacactgagtaacacatg	13	10	13	5	0	0	2	0	1	0	1	0	4	0	4	0	4	1	3	0	4	3	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr2:212587211G>C	ENST00000342788.4	-	7	1100	c.790C>G	c.(790-792)Caa>Gaa	p.Q264E	ERBB4_ENST00000436443.1_Missense_Mutation_p.Q264E|ERBB4_ENST00000402597.1_Missense_Mutation_p.Q264E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	264	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		ACAAAGGTTTGGGGACACTGA	0.383										TSP Lung(8;0.080)			C	212587211	G	C	212587211	3	2	314	1	0	0	0	0	1	0	0	0	5250	1357	47	4	3224	4	ERBB4	2	212587211	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	3474099	212587211	30612162	9	21233											
FEZF2	55079	broad.mit.edu	37	chr3	62355877	62355877	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaccctttgccgcaagTggcgcacgtgaaaggcttct	10	8	11	12	3	1	1	0	1	1	0	1	1	1	1	2	2	2	4	2	2	4	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr3:62355877T>C	ENST00000283268.3	-	5	1555	c.1261A>G	c.(1261-1263)Act>Gct	p.T421A	FEZF2_ENST00000475839.1_Missense_Mutation_p.T421A|FEZF2_ENST00000486811.1_Missense_Mutation_p.T421A	NM_018008.3	NP_060478.3	Q8TBJ5	FEZF2_HUMAN	FEZ family zinc finger 2	421					transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|lung(8)|skin(1)	20		Lung SC(41;0.0262)		BRCA - Breast invasive adenocarcinoma(55;0.000221)|KIRC - Kidney renal clear cell carcinoma(15;0.00834)|Kidney(15;0.00957)		TTGCCGCAAGTGGCGCACGTG	0.527													C	62355877	T	C	62355877	3	2	314	1	0	0	0	0	1	0	0	0	5875	1696	59	3	122	3	FEZF2	3	62355877	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08		62355877	135666553	10	21234											
SLC9A3	6550	broad.mit.edu	37	chr5	491957	491957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccacacggtacccacgacGgcgtacaacaggatggtccc	10	6	10	15	4	0	0	0	0	0	0	2	2	2	1	3	4	3	2	3	4	3	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr5:491957G>A	ENST00000264938.3	-	2	450	c.441C>T	c.(439-441)gcC>gcT	p.A147A	SLC9A3_ENST00000514375.1_Silent_p.A147A	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	147						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TACCCACGACGGCGTACAACA	0.642													A	491957	G	A	491957	2	1	314	1	0	0	0	0	0	0	0	1	14807	1103	39	1		1	SLC9A3	5	491957	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		491957	180423303	11	21235											
RBM27	54439	broad.mit.edu	37	chr5	145608531	145608531	+	Frame_Shift_Del	DEL	A	A	-																															atttcaggagccagcagaggAagaacgagatggcagaaaaa																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr5:145608531delA	ENST00000265271.5	+	4	492	c.326delA	c.(325-327)gaafs	p.E110fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.E110fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	110					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGCAGAGGAAGAACGAGAT	0.418													-	145608531	A	-	145608531	7	5	314	1	0	1	0	1	0	0	0	0	13215	246	9	0	340	0	RBM27	5	145608531	Frame_Shift_Del	DEL	A	TCGA-DB-A4X9-01A-11D-A26M-08	145116574	145608531	35306729	12	21236											
FARS2	10667	broad.mit.edu	37	chr6	5369186	5369186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctggcagaactttgacaGcctgctcatcccagctgatc	9	9	9	14	0	1	3	1	2	0	1	3	4	2	3	3	1	4	3	3	1	1	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr6:5369186G>A	ENST00000324331.6	+	2	719	c.383G>A	c.(382-384)aGc>aAc	p.S128N	FARS2_ENST00000274680.4_Missense_Mutation_p.S128N			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	128					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	AACTTTGACAGCCTGCTCATC	0.557													A	5369186	G	A	5369186	3	1	314	1	0	0	0	0	1	0	0	0	5727	971	34	2	385	2	FARS2	6	5369186	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		5369186	165745881	13	21237											
SYNJ2	8871	broad.mit.edu	37	chr6	158516963	158516963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcctgcagagcaacaGccagcttctccagggcctca	9	6	11	15	0	2	1	1	0	1	1	4	1	3	1	4	2	5	4	4	2	1	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr6:158516963G>A	ENST00000355585.4	+	27	4133	c.4058G>A	c.(4057-4059)aGc>aAc	p.S1353N	SYNJ2_ENST00000367112.1_Missense_Mutation_p.S438N|SYNJ2_ENST00000367122.2_Missense_Mutation_p.S1308N	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1353							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGAGCAACAGCCAGCTTCTC	0.642													A	158516963	G	A	158516963	3	1	314	1	0	0	0	0	1	0	0	0	15550	971	34	2	4164	2	SYNJ2	6	158516963	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	153147777	158516963	12598104	14	21238											
FGL2	10875	broad.mit.edu	37	chr7	76826042	76826042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttccttactcttggtcaGaagatgaattttatcgttcc	9	17	6	9	1	2	3	1	1	1	2	5	3	4	3	2	1	1	1	2	1	4	6			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr7:76826042G>A	ENST00000248598.5	-	2	906	c.874C>T	c.(874-876)Ctg>Ttg	p.L292L	RP11-467H10.2_ENST00000459742.1_RNA|CCDC146_ENST00000285871.4_Intron|CCDC146_ENST00000431197.1_Intron	NM_006682.2	NP_006673.1	Q14314	FGL2_HUMAN	fibrinogen-like 2	292	Fibrinogen C-terminal.				signal transduction	fibrinogen complex	receptor binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	13						CTCTTGGTCAGAAGATGAATT	0.408													A	76826042	G	A	76826042	2	1	314	1	0	0	0	0	0	0	0	1	5922	933	33	2		2	FGL2	7	76826042	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		76826042	82312621	15	21239											
COL1A2	1278	broad.mit.edu	37	chr7	94056997	94056997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagcggtggtggttatgActttggttacgatggagact	8	14	15	4	2	0	2	0	1	0	1	0	4	0	2	0	5	2	3	0	5	3	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr7:94056997A>G	ENST00000297268.6	+	49	3797	c.3326A>G	c.(3325-3327)gAc>gGc	p.D1109G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1109					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGTGGTTATGACTTTGGTTAC	0.532										HNSCC(75;0.22)			G	94056997	A	G	94056997	3	3	314	1	0	0	0	0	1	0	0	0	3709	275	10	3	3520	3	COL1A2	7	94056997	Missense_Mutation	SNP	A	TCGA-DB-A4X9-01A-11D-A26M-08	17230955	94056997	65081666	16	21240											
SFMBT2	57713	broad.mit.edu	37	chr10	7213994	7213994	+	Frame_Shift_Del	DEL	C	C	-																															gccgctccgcagggtgacggCcctccggggccgggccgagg																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr10:7213994delC	ENST00000361972.4	-	19	2368	c.2278delG	c.(2278-2280)gccfs	p.A760fs	SFMBT2_ENST00000397167.1_Frame_Shift_Del_p.A760fs	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	760					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						AGGGTGACGGCCCTCCGGGGC	0.741													-	7213994	C	-	7213994	7	5	314	1	0	1	0	1	0	0	0	0	14251	739	26	0	418	0	SFMBT2	10	7213994	Frame_Shift_Del	DEL	C	TCGA-DB-A4X9-01A-11D-A26M-08		7213994	128320753	17	21241											
OR10G7	390265	broad.mit.edu	37	chr11	123909445	123909445	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggaaggagatagtcctGccgcttggggacaccaaggt	9	8	15	9	1	0	1	0	0	0	1	1	4	1	3	3	5	1	1	3	5	3	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr11:123909445G>C	ENST00000330487.5	-	1	272	c.264C>G	c.(262-264)ggC>ggG	p.G88G		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		AGATAGTCCTGCCGCTTGGGG	0.527													C	123909445	G	C	123909445	2	2	314	1	0	0	0	0	0	0	0	1	10978	1306	46	4		4	OR10G7	11	123909445	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		123909445	11097071	18	21242											
VPS13C	54832	broad.mit.edu	37	chr15	62256122	62256122	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaatagcctgaaatcaatAatgtcactatctctggagga	15	10	8	8	0	3	1	2	1	1	0	4	3	3	3	1	2	1	1	1	2	6	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr15:62256122A>C	ENST00000261517.5	-	32	3316	c.3243T>G	c.(3241-3243)atT>atG	p.I1081M	VPS13C_ENST00000395898.3_Missense_Mutation_p.I1038M|VPS13C_ENST00000395896.4_Missense_Mutation_p.I1081M|VPS13C_ENST00000249837.3_Missense_Mutation_p.I1038M	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1081					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TGAAATCAATAATGTCACTAT	0.353													C	62256122	A	C	62256122	3	2	314	1	0	0	0	0	1	0	0	0	17293	358	13	5	8262	5	VPS13C	15	62256122	Missense_Mutation	SNP	A	TCGA-DB-A4X9-01A-11D-A26M-08		62256122	40275270	19	21243											
SMAD3	4088	broad.mit.edu	37	chr15	67457635	67457635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacacagagatcccggccGagttccccccactggacgac	9	4	10	18	3	0	1	0	0	0	1	2	5	2	2	6	2	0	1	6	2	0	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr15:67457635G>A	ENST00000327367.4	+	3	755	c.445G>A	c.(445-447)Gag>Aag	p.E149K	SMAD3_ENST00000540846.2_Missense_Mutation_p.E44K|SMAD3_ENST00000439724.3_Missense_Mutation_p.E105K	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	149	Linker.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		GATCCCGGCCGAGTTCCCCCC	0.602													A	67457635	G	A	67457635	3	1	314	1	0	0	0	0	1	0	0	0	14853	1059	37	1	533	1	SMAD3	15	67457635	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	5201513	67457635	35073757	20	21244											
CES3	23491	broad.mit.edu	37	chr16	67006756	67006756	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattcattcctcccacccaGggaccccaatagcaaggctc	10	8	6	17	0	2	0	2	0	0	0	5	1	4	1	5	2	1	2	5	2	3	3			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr16:67006756G>A	ENST00000303334.4	+	13	1591		c.e13-1		CES3_ENST00000543856.1_Splice_Site|CES3_ENST00000394037.1_Splice_Site	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3							endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTCCCACCCAGGGACCCCAAT	0.602													A	67006756	G	A	67006756	5	1	314	1	0	0	0	0	0	0	1	0	3301	1014	35	2	1570	2	CES3	16	67006756	Splice_Site	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08		67006756	23347997	21	21245											
THAP11	57215	broad.mit.edu	37	chr16	67876787	67876787	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacagcagcaGcagcagcaacagcagcaaca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr16:67876787G>A	ENST00000303596.1	+	1	575	c.330G>A	c.(328-330)caG>caA	p.Q110Q	CENPT_ENST00000562787.1_Intron	NM_020457.2	NP_065190.2	Q96EK4	THA11_HUMAN	THAP domain containing 11	110	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|identical protein binding|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|urinary_tract(1)	8		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		aacagcagcagcagcagcaac	0.682													A	67876787	G	A	67876787	2	1	314	1	0	0	0	0	0	0	0	1	15943	962	34	2		2	THAP11	16	67876787	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	870031	67876787	22477966	22	21246											
TP53	7157	broad.mit.edu	37	chr17	7577141	7577141	+	Missense_Mutation	SNP	C	C	T																															gcacctcaaagctgttccgtCccagtagattaccactactc																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577141C>T	ENST00000420246.2	-	8	929	c.797G>A	c.(796-798)gGa>gAa	p.G266E	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266E|TP53_ENST00000269305.4_Missense_Mutation_p.G266E|TP53_ENST00000455263.2_Missense_Mutation_p.G266E|TP53_ENST00000359597.4_Missense_Mutation_p.G266E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266E(50)|p.G266V(42)|p.0?(8)|p.?(3)|p.G266fs*79(3)|p.G262_F270delGNLLGRNSF(2)|p.G266A(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.G266T(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		GCTGTTCCGTCCCAGTAGATT	0.517		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)			T	7577141	C	T	7577141	3	4	314	1	0	0	0	0	1	0	0	0	16482	855	30	2	489	2	TP53	17	7577141	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		7577141	73618069	23	21247	29	3									
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T																															cacctcaaagctgttccgtcCcagtagattaccactactca																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577142C>T	ENST00000420246.2	-	8	928	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G266R|TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000359597.4_Missense_Mutation_p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			T	7577142	C	T	7577142	3	4	314	1	0	0	0	0	1	0	0	0	16482	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	1	7577142	73618068	24	21248	29	3									
TP53	7157	broad.mit.edu	37	chr17	7577143	7577143	+	Silent	SNP	C	C	T																															acctcaaagctgttccgtccCagtagattaccactactcag																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:7577143C>T	ENST00000420246.2	-	8	927	c.795G>A	c.(793-795)ctG>ctA	p.L265L	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Silent_p.L265L|TP53_ENST00000269305.4_Silent_p.L265L|TP53_ENST00000455263.2_Silent_p.L265L|TP53_ENST00000359597.4_Silent_p.L265L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.L265L(2)|p.L265P(1)|p.N263fs*5(1)|p.L265_K305del41(1)|p.G266fs*9(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G262fs*2(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)		TGTTCCGTCCCAGTAGATTAC	0.522		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)			T	7577143	C	T	7577143	2	4	314	1	0	0	0	0	0	0	0	1	16482	581	21	2		2	TP53	17	7577143	Silent	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08	1	7577143	73618067	25	21249	29	3									
KRT34	3885	broad.mit.edu	37	chr17	39535942	39535942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggcagtgtccacctccacGttgaggcggtctccaagctg	6	8	14	13	2	1	1	0	1	1	0	4	1	3	1	4	4	1	3	4	4	1	1	rs144246640	byFrequency	TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr17:39535942G>A	ENST00000394001.1	-	4	786	c.756C>T	c.(754-756)aaC>aaT	p.N252N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	252	Linker 12.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				CCACCTCCACGTTGAGGCGGT	0.557													A	39535942	G	A	39535942	2	1	314	1	0	0	0	0	0	0	0	1	8529	1136	40	1		1	KRT34	17	39535942	Silent	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	31958799	39535942	41659268	26	21250											
NETO1	81832	broad.mit.edu	37	chr18	70526115	70526116	+	Frame_Shift_Ins	INS	-	-	A																															gattccagctctccatcagcINSaaaaaatttaatccatagaa																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr18:70526115_70526116insA	ENST00000327305.6	-	4	1071_1072	c.414_415insT	c.(412-417)tttgctfs	p.A139fs	NETO1_ENST00000299430.2_Frame_Shift_Ins_p.A138fs|NETO1_ENST00000397929.1_Frame_Shift_Ins_p.A138fs|NETO1_ENST00000583169.1_Frame_Shift_Ins_p.A139fs|NETO1_ENST00000580049.1_5'UTR	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	139	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		TCTCCATCAGCAAAAAATTTAA	0.342													A	70526116	-	A	70526115	7	5	314	1	0	1	1	0	0	0	0	0	10415	710	25	0	1223	0	NETO1	18	70526115	Frame_Shift_Ins	INS	-	TCGA-DB-A4X9-01A-11D-A26M-08		70526115	7551133	27	21251											
REXO1	57455	broad.mit.edu	37	chr19	1828027	1828027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggggccgcttggcggccCgctcatcccgggagctggcc	2	5	16	18	5	1	0	1	0	0	0	2	1	2	1	5	6	1	3	5	6	0	1			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:1828027C>T	ENST00000170168.4	-	2	855	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	254						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		CTTGGCGGCCCGCTCATCCCG	0.652													T	1828027	C	T	1828027	3	4	314	1	0	0	0	0	1	0	0	0	13329	652	23	1	2964	1	REXO1	19	1828027	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		1828027	57300956	28	21252											
ZNF414	84330	broad.mit.edu	37	chr19	8576741	8576741	+	Frame_Shift_Del	DEL	C	C	-																															gggcggctctcggtccagggCcgggggtggcggcggggctg																										TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:8576741delC	ENST00000393927.4	-	5	747	c.634delG	c.(634-636)gccfs	p.A212fs	ZNF414_ENST00000255616.8_Frame_Shift_Del_p.A212fs	NM_001146175.1	NP_001139647.1	Q96IQ9	ZN414_HUMAN	zinc finger protein 414	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			lung(2)	2						CGGTCCAGGGCCGGGGGTGGC	0.731													-	8576741	C	-	8576741	7	5	314	1	0	1	0	1	0	0	0	0	17992	739	26	0	568	0	ZNF414	19	8576741	Frame_Shift_Del	DEL	C	TCGA-DB-A4X9-01A-11D-A26M-08	6748714	8576741	50552242	29	21253											
RHPN2	85415	broad.mit.edu	37	chr19	33535237	33535237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctctttgattctgcaattTactccggccggtttgtgcaa	7	15	9	10	2	2	1	0	1	2	0	3	1	3	1	2	2	4	4	2	2	3	5			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chr19:33535237T>C	ENST00000254260.3	-	2	138	c.103A>G	c.(103-105)Aaa>Gaa	p.K35E	RHPN2_ENST00000400226.4_5'UTR	NM_033103.4	NP_149094.3	Q8IUC4	RHPN2_HUMAN	rhophilin, Rho GTPase binding protein 2	35					signal transduction	perinuclear region of cytoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(5)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(3)|urinary_tract(1)	44	Esophageal squamous(110;0.137)					TTCTGCAATTTACTCCGGCCG	0.483													C	33535237	T	C	33535237	3	2	314	1	0	0	0	0	1	0	0	0	13440	1763	61	3	2013	3	RHPN2	19	33535237	Missense_Mutation	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08	24958496	33535237	25593746	30	21254											
FAM9B	171483	broad.mit.edu	37	chrX	8993591	8993591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcttcatcggaaaaaaCtctgtcacaaaggtcttcaa	14	11	6	10	1	6	0	3	0	3	0	7	1	6	1	0	2	1	0	0	2	5	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:8993591C>A	ENST00000362066.3	-	7	834	c.646G>T	c.(646-648)Gtt>Ttt	p.V216F	FAM9B_ENST00000327220.5_Missense_Mutation_p.V176F|FAM9B_ENST00000428477.1_Missense_Mutation_p.V176F			Q8IZU0	FAM9B_HUMAN	family with sequence similarity 9, member B	176						nucleus				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|urinary_tract(1)	11		Hepatocellular(5;0.219)				TCGGAAAAAACTCTGTCACAA	0.328													A	8993591	C	A	8993591	3	1	314	1	0	0	0	0	1	0	0	0	5709	565	20	4	38	4	FAM9B	23	8993591	Missense_Mutation	SNP	C	TCGA-DB-A4X9-01A-11D-A26M-08		8993591	146276969	31	21255											
MORC4	79710	broad.mit.edu	37	chrX	106185949	106185949	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggttccaggattcaacTgcttttcgtctctcagcaag	8	13	9	11	1	3	0	2	0	1	0	6	1	4	1	1	2	3	3	1	2	2	4			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:106185949T>A	ENST00000355610.4	-	15	2446	c.2172A>T	c.(2170-2172)gcA>gcT	p.A724A	MORC4_ENST00000255495.7_Silent_p.A724A|MORC4_ENST00000535534.1_Silent_p.A472A	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	724							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AGGATTCAACTGCTTTTCGTC	0.512													A	106185949	T	A	106185949	2	1	314	1	0	0	0	0	0	0	0	1	9780	1567	55	5		5	MORC4	23	106185949	Silent	SNP	T	TCGA-DB-A4X9-01A-11D-A26M-08	97192358	106185949	49084611	32	21256											
SASH3	54440	broad.mit.edu	37	chrX	128926408	128926408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggcacgagtccacaccGacttcactcccagcccctat	8	6	8	19	3	1	0	1	0	0	0	3	2	3	0	6	1	1	1	6	1	1	2			TCGA-DB-A4X9-01A-11D-A26M-08	TCGA-DB-A4X9-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eea26f3f-6798-4b36-8e5c-a1de8c55f666	59d8d896-b937-4a7b-b503-f112f5570356	g.chrX:128926408G>A	ENST00000356892.3	+	5	661	c.547G>A	c.(547-549)Gac>Aac	p.D183N		NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	183	SH3.									breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						AGTCCACACCGACTTCACTCC	0.622													A	128926408	G	A	128926408	3	1	314	1	0	0	0	0	1	0	0	0	13941	1058	37	1	565	1	SASH3	23	128926408	Missense_Mutation	SNP	G	TCGA-DB-A4X9-01A-11D-A26M-08	22740459	128926408	26344152	33	21257											
ARID1A	8289	broad.mit.edu	37	chr1	27057668	27057668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttatggacaacaaggccCcagcgggtatggtcaacagg	11	7	12	11	1	1	0	1	0	0	0	2	1	2	1	3	5	3	1	3	5	5	2			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr1:27057668C>T	ENST00000324856.7	+	3	1747	c.1376C>T	c.(1375-1377)cCc>cTc	p.P459L	ARID1A_ENST00000457599.2_Missense_Mutation_p.P459L|ARID1A_ENST00000374152.2_Missense_Mutation_p.P76L	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	459					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAACAAGGCCCCAGCGGGTAT	0.502			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27057668	C	T	27057668	3	4	315	1	0	0	0	0	1	0	0	0	916	623	22	2	1386	2	ARID1A	1	27057668	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		27057668	222192953	1	21258											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	315	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		209113112	34086261	2	21259											
COL6A6	131873	broad.mit.edu	37	chr3	130287370	130287371	+	Frame_Shift_Ins	INS	-	-	T																															cagtgggaggcccgagatggINSttttttatgttgagaatttt																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr3:130287370_130287371insT	ENST00000358511.6	+	5	2354_2355	c.2323_2324insT	c.(2323-2325)gttfs	p.V775fs	COL6A6_ENST00000453409.2_Frame_Shift_Ins_p.V775fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	775	Nonhelical region.|VWFA 4.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCCCGAGATGGTTTTTTATGTT	0.47													T	130287371	-	T	130287370	7	5	315	1	0	1	1	0	0	0	0	0	3734	1261	44	0	2341	0	COL6A6	3	130287370	Frame_Shift_Ins	INS	-	TCGA-DB-A4XA-01A-11D-A26M-08		130287370	67735060	3	21260											
ANXA3	306	broad.mit.edu	37	chr4	79531254	79531254	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacactcttaaaaatctgTggtggagatgactgaaccaa	15	10	8	8	0	3	3	1	2	2	1	3	4	3	3	1	2	1	0	1	2	5	1			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr4:79531254T>C	ENST00000264908.6	+	13	1336	c.957T>C	c.(955-957)tgT>tgC	p.C319C	ANXA3_ENST00000512884.1_Silent_p.C280C|ANXA3_ENST00000503570.2_Silent_p.C280C	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	319					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						TAAAAATCTGTGGTGGAGATG	0.378													C	79531254	T	C	79531254	2	2	315	1	0	0	0	0	0	0	0	1	719	1702	59	3		3	ANXA3	4	79531254	Silent	SNP	T	TCGA-DB-A4XA-01A-11D-A26M-08		79531254	111623022	4	21261											
OSMR	9180	broad.mit.edu	37	chr5	38932056	38932056	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtcatgtgctacttgAaaagtcagtggtaagtgtgt	10	14	12	5	0	3	1	3	1	0	0	3	1	3	1	0	2	2	2	0	2	4	3			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:38932056A>G	ENST00000274276.3	+	16	2686	c.2284A>G	c.(2284-2286)Aaa>Gaa	p.K762E		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	762					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GTGCTACTTGAAAAGTCAGTG	0.388													G	38932056	A	G	38932056	3	3	315	1	0	0	0	0	1	0	0	0	11368	247	9	3	2380	3	OSMR	5	38932056	Missense_Mutation	SNP	A	TCGA-DB-A4XA-01A-11D-A26M-08		38932056	141983204	5	21262											
RNF44	22838	broad.mit.edu	37	chr5	175957618	175957618	+	Frame_Shift_Del	DEL	G	G	-																															ctcctggtgcagcggatcgtGgggcaggtagtgcaggggca																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr5:175957618delG	ENST00000274811.4	-	6	1290	c.766delC	c.(766-768)cacfs	p.H256fs	RNF44_ENST00000537487.1_Frame_Shift_Del_p.H175fs	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	256	Pro-rich.						zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCGGATCGTGGGGCAGGTAG	0.706													-	175957618	G	-	175957618	7	5	315	1	0	1	0	1	0	0	0	0	13587	1348	47	0	556	0	RNF44	5	175957618	Frame_Shift_Del	DEL	G	TCGA-DB-A4XA-01A-11D-A26M-08	137025562	175957618	4957642	6	21263											
KPNA5	3841	broad.mit.edu	37	chr6	117053451	117053451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaacagtttatatttcagCagcaggaagcaccaatggat	16	9	8	8	0	1	0	1	0	0	0	1	2	1	2	1	2	5	4	1	2	6	4			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr6:117053451C>A	ENST00000368564.1	+	14	1733	c.1585C>A	c.(1585-1587)Cag>Aag	p.Q529K	KPNA5_ENST00000356348.1_Missense_Mutation_p.Q529K			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	526					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		TATATTTCAGCAGCAGGAAGC	0.393													A	117053451	C	A	117053451	3	1	315	1	0	0	0	0	1	0	0	0	8491	711	25	4	1639	4	KPNA5	6	117053451	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		117053451	54061616	7	21264											
SYNJ2	8871	broad.mit.edu	37	chr6	158507947	158507947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcggggagttccgccaccGttctccgagcaggtctctgt	4	10	13	14	5	2	0	0	0	2	0	6	2	3	1	4	3	1	3	4	3	0	2	rs141300011		TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr6:158507947G>A	ENST00000355585.4	+	23	3344	c.3269G>A	c.(3268-3270)cGt>cAt	p.R1090H	SYNJ2_ENST00000367112.1_Missense_Mutation_p.R175H|SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000367121.3_Missense_Mutation_p.R1090H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1090							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTCCGCCACCGTTCTCCGAGC	0.642													A	158507947	G	A	158507947	3	1	315	1	0	0	0	0	1	0	0	0	15550	1145	40	1	3359	1	SYNJ2	6	158507947	Missense_Mutation	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	41454496	158507947	12607120	8	21265											
STK31	56164	broad.mit.edu	37	chr7	23826191	23826191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagccacctaccatagagCttggagagaagctgaaggag	14	5	13	9	0	0	3	0	1	0	2	0	6	0	5	3	2	5	3	3	2	4	3			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr7:23826191C>A	ENST00000354639.3	+	19	2734	c.2270C>A	c.(2269-2271)gCt>gAt	p.A757D	STK31_ENST00000355870.3_Missense_Mutation_p.A780D|STK31_ENST00000428484.1_Missense_Mutation_p.A757D|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000433467.2_Missense_Mutation_p.A780D	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	780	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TACCATAGAGCTTGGAGAGAA	0.423													A	23826191	C	A	23826191	3	1	315	1	0	0	0	0	1	0	0	0	15392	797	28	4	2413	4	STK31	7	23826191	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		23826191	135312472	9	21266											
HMX3	340784	broad.mit.edu	37	chr10	124895618	124895620	+	In_Frame_Del	DEL	CCG	CCG	-																															ccgccagcgcacagccccaaCcgccgccgccccccccaccc																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr10:124895618_124895620delCCG	ENST00000357878.5	+	1	141_143	c.52_54delCCG	c.(52-54)ccgdel	p.P24del		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	24	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		ACAGCCCCAACCGCCGCCGCCCC	0.754													-	124895620	CCG	-	124895618	7	5	315	1	0	1	0	1	0	0	0	0	7303	507	18	0	54	0	HMX3	10	124895618	In_Frame_Del	DEL	CCG	TCGA-DB-A4XA-01A-11D-A26M-08		124895618	10639129	10	21267											
DDB2	1643	broad.mit.edu	37	chr11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaatttgggacctgCgccaggttagagggaaagcc	12	7	14	8	1	0	2	0	1	0	1	0	4	0	4	3	3	2	1	3	3	4	2			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378603.3_Missense_Mutation_p.R209C|DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	47256422	C	T	47256422	3	4	315	1	0	0	0	0	1	0	0	0	4358	768	27	1	839	1	DDB2	11	47256422	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		47256422	87750094	11	21268											
KCNJ1	3758	broad.mit.edu	37	chr11	128709265	128709265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgggacataggatgtccGgacttggcaggtagcactgg	8	9	15	9	1	1	0	0	0	1	0	2	3	2	3	1	6	1	3	1	6	2	3			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr11:128709265G>A	ENST00000392665.2	-	2	1018	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W	KCNJ1_ENST00000392666.1_Missense_Mutation_p.R292W|KCNJ1_ENST00000324036.3_Missense_Mutation_p.R292W|KCNJ1_ENST00000392664.2_Missense_Mutation_p.R311W|KCNJ1_ENST00000440599.2_Missense_Mutation_p.R292W	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	311					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	TAGGATGTCCGGACTTGGCAG	0.498													A	128709265	G	A	128709265	3	1	315	1	0	0	0	0	1	0	0	0	8101	1115	39	1	248	1	KCNJ1	11	128709265	Missense_Mutation	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	81452843	128709265	6297251	12	21269											
AGBL1	123624	broad.mit.edu	37	chr15	87097705	87097705	+	Frame_Shift_Del	DEL	G	G	-																															gtggtggtgtggagagagatGggggtgtccagaagctacac																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr15:87097705delG	ENST00000441037.2	+	20	2888	c.2793delG	c.(2791-2793)atgfs	p.M931fs	AGBL1_ENST00000389298.3_Frame_Shift_Del_p.M662fs|AGBL1_ENST00000421325.2_Frame_Shift_Del_p.M931fs	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	931					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GGAGAGAGATGGGGGTGTCCA	0.547													-	87097705	G	-	87097705	7	5	315	1	0	1	0	1	0	0	0	0	375	1348	47	0	2867	0	AGBL1	15	87097705	Frame_Shift_Del	DEL	G	TCGA-DB-A4XA-01A-11D-A26M-08		87097705	15433687	13	21270											
GRIN2A	2903	broad.mit.edu	37	chr16	9857512	9857512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctagctccctaggtttgtCgacaatgttatcgtaggaat	9	14	10	8	2	1	0	0	0	1	0	4	2	2	1	1	2	1	4	1	2	6	5			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr16:9857512C>T	ENST00000396573.2	-	14	4198	c.3889G>A	c.(3889-3891)Gac>Aac	p.D1297N	GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000330684.3_Missense_Mutation_p.D1297N|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000396575.2_Missense_Mutation_p.D1297N	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1297					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CTAGGTTTGTCGACAATGTTA	0.507													T	9857512	C	T	9857512	3	4	315	1	0	0	0	0	1	0	0	0	6834	884	31	1	509	1	GRIN2A	16	9857512	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		9857512	80497241	14	21271											
EFCAB3	146779	broad.mit.edu	37	chr17	60484520	60484520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgctaagaataaaggagCctttgcatttctttgaggat	13	13	10	5	0	1	3	0	1	1	2	1	5	1	5	1	2	3	2	1	2	4	5	rs115042128	byFrequency	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:60484520C>T	ENST00000450662.2	+	10	1041	c.970C>T	c.(970-972)Cct>Tct	p.P324S	EFCAB3_ENST00000305286.3_Missense_Mutation_p.P272S	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	272							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			AATAAAGGAGCCTTTGCATTT	0.348													T	60484520	C	T	60484520	3	4	315	1	0	0	0	0	1	0	0	0	4974	739	26	2	1008	2	EFCAB3	17	60484520	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		60484520	20710690	15	21272											
AATK	9625	broad.mit.edu	37	chr17	79094025	79094025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagaggtagacggtgacGtcgtcgaagaaggacacggc	13	5	15	8	5	1	4	1	1	0	3	3	6	1	5	0	4	0	1	0	4	4	1			TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr17:79094025G>A	ENST00000326724.4	-	11	3735	c.3711C>T	c.(3709-3711)gaC>gaT	p.D1237D	AATK_ENST00000417379.1_Silent_p.D1134D	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1237						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGACGGTGACGTCGTCGAAGA	0.697													A	79094025	G	A	79094025	2	1	315	1	0	0	0	0	0	0	0	1	26	1136	40	1		1	AATK	17	79094025	Silent	SNP	G	TCGA-DB-A4XA-01A-11D-A26M-08	18609505	79094025	2101185	16	21273											
MUC16	94025	broad.mit.edu	37	chr19	9082732	9082732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggcttatgggagaggaaCtagaaccagaccttgctgct	12	9	12	8	0	0	3	0	0	0	3	0	5	0	4	2	3	4	3	2	3	5	4	rs139519759	by1000genomes	TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:9082732C>A	ENST00000397910.4	-	1	9286	c.9083G>T	c.(9082-9084)aGt>aTt	p.S3028I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3029	Ser-rich.|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						GGGAGAGGAACTAGAACCAGA	0.488													A	9082732	C	A	9082732	3	1	315	1	0	0	0	0	1	0	0	0	10049	565	20	4	34776	4	MUC16	19	9082732	Missense_Mutation	SNP	C	TCGA-DB-A4XA-01A-11D-A26M-08		9082732	50046251	17	21274											
CIC	23152	broad.mit.edu	37	chr19	42791822	42791824	+	In_Frame_Del	DEL	GTG	GTG	-																															gtcagcaagatcctgggcgaGtggtggtatgccctggggcc																										TCGA-DB-A4XA-01A-11D-A26M-08	TCGA-DB-A4XA-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb5e54dc-5a3c-4a34-8f3c-969d03648335	232a02d7-127b-4021-8da7-27e6b63a1a7d	g.chr19:42791822_42791824delGTG	ENST00000572681.2	+	6	3503_3505	c.3435_3437delGTG	c.(3433-3438)gagtgg>gag	p.W1147del	CIC_ENST00000575354.2_In_Frame_Del_p.W238del|CIC_ENST00000160740.3_In_Frame_Del_p.W238del			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGGGCGAGTGGTGGTATGCC	0.611			"Mis, F, S"		oligodendroglioma								-	42791824	GTG	-	42791822	7	5	315	1	0	1	0	1	0	0	0	0	3454	1020	36	0	726	0	CIC	19	42791822	In_Frame_Del	DEL	GTG	TCGA-DB-A4XA-01A-11D-A26M-08	33709090	42791822	16337161	18	21275											
CSMD2	114784	broad.mit.edu	37	chr1	34034977	34034977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagaggtcacttaccaaGgcagcggacttcagagccac	11	6	11	13	1	2	2	2	0	0	2	2	3	2	3	2	3	4	2	2	3	2	2	rs143459383		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:34034977G>A	ENST00000373381.4	-	52	8304	c.8128C>T	c.(8128-8130)Ctt>Ttt	p.L2710F		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2712	Sushi 17.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CACTTACCAAGGCAGCGGACT	0.502													A	34034977	G	A	34034977	3	1	316	1	0	0	0	0	1	0	0	0	3978	1000	35	2	2397	2	CSMD2	1	34034977	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		34034977	215215644	1	21276											
OR2M3	127062	broad.mit.edu	37	chr1	248366912	248366912	+	Frame_Shift_Del	DEL	C	C	-																															gcccacttcttctgtgacttCccctccctactaatcctctc																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr1:248366912delC	ENST00000456743.1	+	1	581	c.543delC	c.(541-543)ttcfs	p.F181fs		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	181					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TCTGTGACTTCCCCTCCCTAC	0.423													-	248366912	C	-	248366912	7	5	316	1	0	1	0	1	0	0	0	0	11087	854	30	0	545	0	OR2M3	1	248366912	Frame_Shift_Del	DEL	C	TCGA-DB-A4XB-01A-11D-A26M-08	214331935	248366912	883709	2	21277											
HADHA	3030	broad.mit.edu	37	chr2	26437420	26437420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggaatagtcatggcataCgctgtcaattctgtaaaata	15	12	8	6	1	3	0	2	0	1	0	3	1	3	1	0	2	1	3	0	2	8	5			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:26437420C>T	ENST00000380649.3	-	9	939	c.810G>A	c.(808-810)gcG>gcA	p.A270A	HADHA_ENST00000457468.2_Silent_p.A183A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	270					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCATGGCATACGCTGTCAATT	0.338													T	26437420	C	T	26437420	2	4	316	1	0	0	0	0	0	0	0	1	6998	523	19	1		1	HADHA	2	26437420	Silent	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		26437420	216761953	3	21278											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	316	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	182675692	209113112	34086261	4	21279											
SLC19A3	80704	broad.mit.edu	37	chr2	228563995	228563995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaggcggccagcgtgaCgctcctgcagtagccgctca	6	8	14	13	4	1	1	1	1	0	0	2	1	2	1	3	2	3	5	3	2	2	2	rs147502239	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:228563995C>T	ENST00000258403.3	-	3	507	c.436G>A	c.(436-438)Gtc>Atc	p.V146I	SLC19A3_ENST00000541617.1_Missense_Mutation_p.V142I|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	146					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	GCCAGCGTGACGCTCCTGCAG	0.592													T	228563995	C	T	228563995	3	4	316	1	0	0	0	0	1	0	0	0	14524	536	19	1	1070	1	SLC19A3	2	228563995	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	19450883	228563995	14635378	5	21280											
SCLY	51540	broad.mit.edu	37	chr2	239002577	239002577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgactacctggaagagAggctggaagtgagcgcagcg	10	5	16	10	4	0	2	0	1	0	1	1	6	1	4	2	3	3	2	2	3	3	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr2:239002577A>G	ENST00000254663.6	+	9	1163	c.1021A>G	c.(1021-1023)Agg>Ggg	p.R341G	SCLY_ENST00000429612.2_Missense_Mutation_p.R127G|SCLY_ENST00000422984.2_Missense_Mutation_p.R239G|SCLY_ENST00000555827.1_Missense_Mutation_p.R333G	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	333					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		CCTGGAAGAGAGGCTGGAAGT	0.672													G	239002577	A	G	239002577	3	3	316	1	0	0	0	0	1	0	0	0	14000	295	11	3	1031	3	SCLY	2	239002577	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	10438582	239002577	4196796	6	21281											
CNTN4	152330	broad.mit.edu	37	chr3	2924865	2924865	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcccaaaatagaagtgcAgttcccagaaacagttccga	15	7	9	10	1	0	3	0	1	0	2	2	4	2	3	3	0	3	3	3	0	5	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:2924865A>G	ENST00000397461.1	+	8	1073	c.689A>G	c.(688-690)cAg>cGg	p.Q230R	CNTN4_ENST00000418658.1_Missense_Mutation_p.Q230R|CNTN4_ENST00000358480.3_Missense_Mutation_p.Q11R|CNTN4_ENST00000427331.1_Missense_Mutation_p.Q230R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	230	Ig-like C2-type 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		ATAGAAGTGCAGTTCCCAGAA	0.408													G	2924865	A	G	2924865	3	3	316	1	0	0	0	0	1	0	0	0	3674	188	7	3	711	3	CNTN4	3	2924865	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		2924865	195097565	7	21282											
ECT2	1894	broad.mit.edu	37	chr3	172472415	172472415	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttactgagatttccaaggAaaacttacttattggatcta	14	14	7	6	0	1	1	0	1	1	1	2	4	2	3	1	2	3	1	1	2	7	6			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr3:172472415A>T	ENST00000417960.1	+	3	572	c.95A>T	c.(94-96)gAa>gTa	p.E32V	ECT2_ENST00000441497.2_Missense_Mutation_p.E32V|ECT2_ENST00000232458.5_Missense_Mutation_p.E32V|ECT2_ENST00000540509.1_Missense_Mutation_p.E32V|ECT2_ENST00000427830.1_Missense_Mutation_p.E32V|ECT2_ENST00000392692.3_Missense_Mutation_p.E32V	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	32					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATTTCCAAGGAAAACTTACTT	0.323													T	172472415	A	T	172472415	3	4	316	1	0	0	0	0	1	0	0	0	4940	246	9	5	97	5	ECT2	3	172472415	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	169547550	172472415	25550015	8	21283											
SDHA	6389	broad.mit.edu	37	chr5	218471	218471	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggcggcaacagcagacAtgtcgggggtccggggcctg	6	4	19	12	5	0	1	0	0	0	1	2	1	1	1	2	6	2	2	2	6	1	0	rs1061517		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:218471A>G	ENST00000264932.6	+	1	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776									Familial Paragangliomas				G	218471	A	G	218471	1	3	316	1	0	0	0	0	0	0	0	0	14056	217	8	3		3	SDHA	5	218471	Translation_Start_Site	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		218471	180696789	9	21284											
LIFR	3977	broad.mit.edu	37	chr5	38523540	38523540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaattttacgagctccataCtctctttacgtagaacttta	11	16	4	10	2	1	1	0	0	1	1	3	2	2	1	1	0	5	2	1	0	7	9			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr5:38523540C>G	ENST00000263409.4	-	5	704	c.542G>C	c.(541-543)aGt>aCt	p.S181T	LIFR_ENST00000453190.2_Missense_Mutation_p.S181T|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	181					positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity	p.S181T(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					GAGCTCCATACTCTCTTTACG	0.343			T	PLAG1	salivary adenoma								G	38523540	C	G	38523540	3	3	316	1	0	0	0	0	1	0	0	0	8840	565	20	4	2815	4	LIFR	5	38523540	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	38305069	38523540	142391720	10	21285											
HDGFL1	154150	broad.mit.edu	37	chr6	22570347	22570349	+	In_Frame_Del	DEL	GGC	GGC	-																															agggcggcggaagcggagagGgcggcggcggcggcggcggc																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:22570347_22570349delGGC	ENST00000510882.2	+	1	553_555	c.543_545delGGC	c.(541-546)agggcg>agg	p.A188del	HDGFL1_ENST00000230012.3_In_Frame_Del_p.A188del			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	188	Ala-rich.|Glu-rich.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					aagcggagagggcggcggcggcg	0.768													-	22570349	GGC	-	22570347	7	5	316	1	0	1	0	1	0	0	0	0	7074	1223	43	0	545	0	HDGFL1	6	22570347	In_Frame_Del	DEL	GGC	TCGA-DB-A4XB-01A-11D-A26M-08		22570347	148544720	11	21286											
ANKS1A	23294	broad.mit.edu	37	chr6	35048910	35048910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgaccctgcggcaccctCccgagcggagcgcttcagga	7	5	12	17	4	1	1	1	1	0	0	2	4	2	3	4	3	3	2	4	3	0	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:35048910C>T	ENST00000360359.3	+	17	2822	c.2684C>T	c.(2683-2685)tCc>tTc	p.S895F	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	895						cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						GCGGCACCCTCCCGAGCGGAG	0.657													T	35048910	C	T	35048910	3	4	316	1	0	0	0	0	1	0	0	0	688	855	30	2	2750	2	ANKS1A	6	35048910	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	12478563	35048910	136066157	12	21287											
RAB23	51715	broad.mit.edu	37	chr6	57058690	57058690	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctcagctatttgtTgtttgagtttctgaaggtat	7	18	10	6	0	2	2	1	2	1	0	3	3	3	3	1	2	1	5	1	2	3	6			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:57058690T>A	ENST00000317483.3	-	6	1143	c.524A>T	c.(523-525)cAa>cTa	p.Q175L	RAB23_ENST00000468148.1_Missense_Mutation_p.Q175L	NM_016277.3	NP_057361.3	Q9ULC3	RAB23_HUMAN	RAB23, member RAS oncogene family	175					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	8	Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			AGCTATTTGTTGTTTGAGTTT	0.318													A	57058690	T	A	57058690	3	1	316	1	0	0	0	0	1	0	0	0	12998	1812	63	5	197	5	RAB23	6	57058690	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08	22009780	57058690	114056377	13	21288											
KIAA1009	22832	broad.mit.edu	37	chr6	84913701	84913701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tataattgatatatatacctGtttgggcacacttatttttt	11	20	5	5	0	0	1	0	1	0	0	0	1	0	1	1	1	1	2	1	1	7	12			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:84913701G>C	ENST00000403245.3	-	7	799	c.685C>G	c.(685-687)Cag>Gag	p.Q229E	KIAA1009_ENST00000257766.4_Missense_Mutation_p.Q153E	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	229					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATATATACCTGTTTGGGCACA	0.343													C	84913701	G	C	84913701	3	2	316	1	0	0	0	0	1	0	0	0	8261	1386	48	4	3610	4	KIAA1009	6	84913701	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	27855011	84913701	86201366	14	21289											
PLG	5340	broad.mit.edu	37	chr6	161173247	161173247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagagtccaatccacCgaactctgtgctgggcattt	11	10	10	10	1	1	1	0	0	1	1	3	3	3	2	3	2	2	2	3	2	4	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr6:161173247C>T	ENST00000308192.9	+	18	2289	c.2226C>T	c.(2224-2226)acC>acT	p.T742T		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	742	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCAATCCACCGAACTCTGTG	0.488													T	161173247	C	T	161173247	2	4	316	1	0	0	0	0	0	0	0	1	12163	639	23	1		1	PLG	6	161173247	Silent	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	76259546	161173247	9941820	15	21290											
TRRAP	8295	broad.mit.edu	37	chr7	98497374	98497374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaacaccattgccattcagGtgtctgcacaagcgaggtga	11	9	11	10	1	2	2	1	2	1	0	2	3	2	2	2	2	4	1	2	2	2	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:98497374G>T	ENST00000359863.4	+	10	993	c.784G>T	c.(784-786)Gtg>Ttg	p.V262L	TRRAP_ENST00000446306.3_Missense_Mutation_p.V262L|TRRAP_ENST00000355540.3_Missense_Mutation_p.V262L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	262					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCATTCAGGTGTCTGCACA	0.438													T	98497374	G	T	98497374	3	4	316	1	0	0	0	0	1	0	0	0	16702	1261	44	4	818	4	TRRAP	7	98497374	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		98497374	60641289	16	21291											
FLNC	2318	broad.mit.edu	37	chr7	128482972	128482972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtacacgccaccaggggcGggccgctacaccatcatggt	10	5	12	14	3	1	0	1	0	0	0	1	0	1	0	4	4	2	2	4	4	3	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr7:128482972G>A	ENST00000325888.8	+	16	2775	c.2514G>A	c.(2512-2514)gcG>gcA	p.A838A	FLNC_ENST00000346177.6_Silent_p.A838A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	838					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAGGGGCGGGCCGCTACA	0.592													A	128482972	G	A	128482972	2	1	316	1	0	0	0	0	0	0	0	1	5984	1103	39	1		1	FLNC	7	128482972	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	29985598	128482972	30655691	17	21292											
PTPRD	5789	broad.mit.edu	37	chr9	8633423	8633423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgtaagggttgtattctGagaactgatccagacccatc	10	11	10	10	1	1	3	0	2	1	2	4	4	3	3	3	1	1	3	3	1	3	4			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:8633423G>A	ENST00000381196.4	-	11	789	c.246C>T	c.(244-246)ctC>ctT	p.L82L	PTPRD_ENST00000360074.4_Silent_p.L82L|PTPRD_ENST00000537002.1_Silent_p.L82L|PTPRD_ENST00000486161.1_Silent_p.L82L|PTPRD_ENST00000397606.3_Silent_p.L82L|PTPRD_ENST00000356435.5_Silent_p.L82L|PTPRD_ENST00000540109.1_Silent_p.L82L|PTPRD_ENST00000358503.5_Silent_p.L82L|PTPRD_ENST00000397611.3_Silent_p.L82L|PTPRD_ENST00000397617.3_Silent_p.L82L|PTPRD_ENST00000463477.1_Silent_p.L82L|PTPRD_ENST00000355233.5_Silent_p.L82L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	82	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GTTGTATTCTGAGAACTGATC	0.428										TSP Lung(15;0.13)			A	8633423	G	A	8633423	2	1	316	1	0	0	0	0	0	0	0	1	12887	1277	45	2		2	PTPRD	9	8633423	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		8633423	132580008	18	21293											
KIF24	347240	broad.mit.edu	37	chr9	34256165	34256165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctctcctaggtctgccTccctgctgggcagcttgtca	4	11	11	15	0	3	0	1	0	2	0	5	0	4	0	4	3	3	3	4	3	1	2	rs36062910		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:34256165T>C	ENST00000379166.2	-	11	3559	c.3440A>G	c.(3439-3441)gAg>gGg	p.E1147G	KIF24_ENST00000402558.2_Missense_Mutation_p.E1147G|KIF24_ENST00000379174.3_Missense_Mutation_p.E1013G|KIF24_ENST00000345050.2_Missense_Mutation_p.E1013G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1147					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TAGGTCTGCCTCCCTGCTGGG	0.572													C	34256165	T	C	34256165	3	2	316	1	0	0	0	0	1	0	0	0	8350	1551	54	3	678	3	KIF24	9	34256165	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08	25622742	34256165	106957266	19	21294											
TPM2	7169	broad.mit.edu	37	chr9	35685321	35685321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctctccttccaggatcaCcagcttcctggccacctgtg	6	10	8	17	0	2	0	1	0	1	0	5	1	4	1	6	2	2	2	6	2	0	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr9:35685321C>A	ENST00000378292.3	-	5	1710	c.508G>T	c.(508-510)Gtg>Ttg	p.V170L	TPM2_ENST00000360958.2_Missense_Mutation_p.V170L|TPM2_ENST00000329305.2_Missense_Mutation_p.V170L|TPM2_ENST00000378300.5_Missense_Mutation_p.V170L	NM_213674.1	NP_998839.1	P07951	TPM2_HUMAN	tropomyosin 2 (beta)	170					muscle filament sliding|regulation of ATPase activity	cytosol|muscle thin filament tropomyosin	actin binding|structural constituent of muscle			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_epithelial(49;0.121)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCAGGATCACCAGCTTCCTG	0.627													A	35685321	C	A	35685321	3	1	316	1	0	0	0	0	1	0	0	0	16507	507	18	4	533	4	TPM2	9	35685321	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	1429156	35685321	105528110	20	21295											
HKDC1	80201	broad.mit.edu	37	chr10	71010063	71010063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaaggaaagtttctcGccctggatcttgggggaacc	11	8	13	9	1	2	1	0	0	2	1	3	5	2	4	2	4	1	1	2	4	3	2	rs148336562	by1000genomes	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr10:71010063G>A	ENST00000354624.5	+	11	1721	c.1588G>A	c.(1588-1590)Gcc>Acc	p.A530T	HKDC1_ENST00000395086.2_Missense_Mutation_p.A530T	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	530					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAAGTTTCTCGCCCTGGATCT	0.547													A	71010063	G	A	71010063	3	1	316	1	0	0	0	0	1	0	0	0	7248	1087	38	1	1630	1	HKDC1	10	71010063	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		71010063	64524684	21	21296											
OR8J3	81168	broad.mit.edu	37	chr11	55904857	55904857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatcacagccagcatcAttacctccgatacaataaag	15	7	6	13	1	2	0	2	0	0	0	3	1	3	0	4	1	4	1	4	1	5	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:55904857A>G	ENST00000301529.1	-	1	337	c.338T>C	c.(337-339)aTg>aCg	p.M113T		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					AGCCAGCATCATTACCTCCGA	0.478													G	55904857	A	G	55904857	3	3	316	1	0	0	0	0	1	0	0	0	11318	217	8	3	611	3	OR8J3	11	55904857	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		55904857	79101659	22	21297											
FTH1	2495	broad.mit.edu	37	chr11	61732945	61732945	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaagaaagtatttggCaaagttcttcaaagccacat	14	12	9	6	0	2	2	1	1	1	1	2	2	2	2	1	2	1	3	1	2	5	5			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:61732945C>G	ENST00000273550.7	-	2	391	c.157G>C	c.(157-159)Gcc>Ccc	p.A53P	FTH1_ENST00000532601.1_5'UTR|BEST1_ENST00000449131.2_3'UTR|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000526640.1_Missense_Mutation_p.A23P|FTH1_ENST00000529631.1_Intron	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	53	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AAGTATTTGGCAAAGTTCTTC	0.458													G	61732945	C	G	61732945	3	3	316	1	0	0	0	0	1	0	0	0	6134	710	25	4	406	4	FTH1	11	61732945	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	5828088	61732945	73273571	23	21298											
PTPRCAP	5790	broad.mit.edu	37	chr11	67203469	67203469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgcaggccaccatccGcgacgtggtcatagtctgtg	7	8	12	14	3	2	0	1	0	1	0	3	1	3	0	4	2	2	1	4	2	1	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr11:67203469G>A	ENST00000326294.3	-	2	803	c.356C>T	c.(355-357)gCg>gTg	p.A119V		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	119					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GCCACCATCCGCGACGTGGTC	0.657													A	67203469	G	A	67203469	3	1	316	1	0	0	0	0	1	0	0	0	12886	1087	38	1	268	1	PTPRCAP	11	67203469	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	5470524	67203469	67803047	24	21299											
AEBP2	121536	broad.mit.edu	37	chr12	19592913	19592913	+	Frame_Shift_Del	DEL	G	G	-																															ccgagagcgccagccaggccGgggaggacgaagacgaggag																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:19592913delG	ENST00000266508.9	+	1	281	c.280delG	c.(280-282)gggfs	p.G94fs	AEBP2_ENST00000541908.1_Intron|AEBP2_ENST00000398864.3_Frame_Shift_Del_p.G94fs	NM_153207.4	NP_694939.2	Q6ZN18	AEBP2_HUMAN	AE binding protein 2	94	Glu-rich.|Gly-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|zinc ion binding			ovary(1)	1	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)|Esophageal squamous(101;0.143)					CAGCCAGGCCGGggaggacga	0.741													-	19592913	G	-	19592913	7	5	316	1	0	1	0	1	0	0	0	0	350	1116	39	0	282	0	AEBP2	12	19592913	Frame_Shift_Del	DEL	G	TCGA-DB-A4XB-01A-11D-A26M-08		19592913	114258982	25	21300											
NOS1	4842	broad.mit.edu	37	chr12	117768538	117768538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgggggtcccatcacCtgtaaaggtggtctccaggt	6	11	14	10	0	3	0	1	0	2	0	5	0	4	0	3	6	0	1	3	6	2	2			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr12:117768538C>T	ENST00000317775.6	-	2	1022	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	NOS1_ENST00000338101.4_Missense_Mutation_p.G113S|NOS1_ENST00000344089.3_Missense_Mutation_p.G113S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	113	Interaction with NOSIP (By similarity).				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCCCATCACCTGTAAAGGTG	0.632													T	117768538	C	T	117768538	3	4	316	1	0	0	0	0	1	0	0	0	10617	681	24	2	4079	2	NOS1	12	117768538	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	98175625	117768538	16083357	26	21301											
FAM155A	728215	broad.mit.edu	37	chr13	108518709	108518709	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgctgctgctgcTgctgccgctgctgctgctgg	0	12	15	14	1	0	0	0	0	0	0	0	0	0	0	1	1	11	12	1	1	0	0			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr13:108518709T>C	ENST00000375915.2	-	1	374	c.236A>G	c.(235-237)cAg>cGg	p.Q79R		NM_001080396.2	NP_001073865.1	B1AL88	F155A_HUMAN	family with sequence similarity 155, member A	79	Poly-Gln.					integral to membrane	binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						ctgctgctgctgctgccgctg	0.677													C	108518709	T	C	108518709	3	2	316	1	0	0	0	0	1	0	0	0	5510	1580	55	3	1152	3	FAM155A	13	108518709	Missense_Mutation	SNP	T	TCGA-DB-A4XB-01A-11D-A26M-08		108518709	6651169	27	21302											
FERMT2	10979	broad.mit.edu	37	chr14	53385874	53385874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgtcagaaacagctttgaAgactctatcagagaaattca	16	10	8	7	0	4	4	3	1	1	3	4	6	4	4	0	0	2	1	0	0	4	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:53385874A>G	ENST00000395631.2	-	3	574	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	FERMT2_ENST00000399304.3_Missense_Mutation_p.F120L|FERMT2_ENST00000341590.3_Missense_Mutation_p.F120L|FERMT2_ENST00000343279.4_Missense_Mutation_p.F120L|FERMT2_ENST00000553373.1_Missense_Mutation_p.F120L			Q96AC1	FERM2_HUMAN	fermitin family member 2	120					actin cytoskeleton organization|cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytosol|focal adhesion|stress fiber	binding		ERO1L/FERMT2(2)	NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Breast(41;0.0342)					ACAGCTTTGAAGACTCTATCA	0.393													G	53385874	A	G	53385874	3	3	316	1	0	0	0	0	1	0	0	0	5867	72	3	3	1773	3	FERMT2	14	53385874	Missense_Mutation	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08		53385874	53963666	28	21303											
DIO2	1734	broad.mit.edu	37	chr14	80669148	80669148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagataagcaattttctGtctctgcacaatgcacacac	12	11	5	13	0	2	1	0	0	2	1	4	1	3	1	1	0	3	3	1	0	3	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:80669148G>C	ENST00000557010.1	-	4	1091	c.706C>G	c.(706-708)Cag>Gag	p.Q236E	DIO2_ENST00000438257.4_Missense_Mutation_p.Q236E|DIO2_ENST00000422005.3_3'UTR|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000555750.1_Missense_Mutation_p.Q272E	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	236					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		GCAATTTTCTGTCTCTGCACA	0.507													C	80669148	G	C	80669148	3	2	316	1	0	0	0	0	1	0	0	0	4564	1386	48	4	119	4	DIO2	14	80669148	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	27283274	80669148	26680392	29	21304											
CATSPERB	79820	broad.mit.edu	37	chr14	92076966	92076966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtgttggcaccattgtcGtaacaaagcactcagtagag	12	10	10	9	1	2	1	2	0	0	1	3	1	2	1	1	1	2	5	1	1	3	4			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr14:92076966G>A	ENST00000256343.3	-	21	2612	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	819					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				CACCATTGTCGTAACAAAGCA	0.373													A	92076966	G	A	92076966	3	1	316	1	0	0	0	0	1	0	0	0	2717	1145	40	1	922	1	CATSPERB	14	92076966	Missense_Mutation	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08	11407818	92076966	15272574	30	21305											
ACAN	176	broad.mit.edu	37	chr15	89382124	89382124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcgggtcaacagtgcctatCaggacaaggtctcactgccc	9	8	11	13	1	3	0	3	0	1	0	4	1	3	1	2	3	4	0	2	3	3	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382124C>G	ENST00000439576.2	+	3	675	c.301C>G	c.(301-303)Cag>Gag	p.Q101E	ACAN_ENST00000558207.1_Missense_Mutation_p.Q101E|ACAN_ENST00000559004.1_Missense_Mutation_p.Q101E|ACAN_ENST00000561243.1_Missense_Mutation_p.Q101E|ACAN_ENST00000352105.7_Missense_Mutation_p.Q101E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	101					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CAGTGCCTATCAGGACAAGGT	0.617													G	89382124	C	G	89382124	3	3	316	1	0	0	0	0	1	0	0	0	117	827	29	4	307	4	ACAN	15	89382124	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		89382124	13149268	31	21306			1	43		2	2	19	C		2.209509e-05
ACAN	176	broad.mit.edu	37	chr15	89382142	89382142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaggacaaggtctcactgCccaactacccggccatcccc	10	6	7	18	1	2	0	2	0	1	0	4	1	3	1	5	3	3	0	5	3	3	1			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr15:89382142C>A	ENST00000439576.2	+	3	693	c.319C>A	c.(319-321)Ccc>Acc	p.P107T	ACAN_ENST00000558207.1_Missense_Mutation_p.P107T|ACAN_ENST00000559004.1_Missense_Mutation_p.P107T|ACAN_ENST00000561243.1_Missense_Mutation_p.P107T|ACAN_ENST00000352105.7_Missense_Mutation_p.P107T	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	107					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGTCTCACTGCCCAACTACCC	0.612													A	89382142	C	A	89382142	3	1	316	1	0	0	0	0	1	0	0	0	117	739	26	4	325	4	ACAN	15	89382142	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08	18	89382142	13149250	32	21307			1	43		2	2	19	C		2.209509e-05
CLCN7	1186	broad.mit.edu	37	chr16	1506159	1506159	+	Frame_Shift_Del	DEL	C	C	-																															cactccggccgcagcccctgCggagacgaagtcccgcttct																										TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr16:1506159delC	ENST00000382745.4	-	10	1476	c.871delG	c.(871-873)gcafs	p.A291fs	CLCN7_ENST00000262318.8_Frame_Shift_Del_p.A267fs|CLCN7_ENST00000448525.1_Frame_Shift_Del_p.A267fs	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	291						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				GCAGCCCCTGCGGAGACGAAG	0.652													-	1506159	C	-	1506159	7	5	316	1	0	1	0	1	0	0	0	0	3499	768	27	0	1610	0	CLCN7	16	1506159	Frame_Shift_Del	DEL	C	TCGA-DB-A4XB-01A-11D-A26M-08		1506159	88848594	33	21308											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	316	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		7577538	73617672	34	21309											
ALPK2	115701	broad.mit.edu	37	chr18	56203630	56203630	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggaattatgagaccaccGtctgatgccttgctctcaga	10	11	9	11	1	3	3	2	2	2	2	4	5	3	4	3	1	2	1	3	1	2	2	rs76266246	byFrequency	TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr18:56203630G>A	ENST00000361673.3	-	5	4002	c.3789C>T	c.(3787-3789)gaC>gaT	p.D1263D	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1263							ATP binding|protein serine/threonine kinase activity	p.D624D(1)		NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGAGACCACCGTCTGATGCCT	0.498													A	56203630	G	A	56203630	2	1	316	1	0	0	0	0	0	0	0	1	545	1136	40	1		1	ALPK2	18	56203630	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		56203630	21873618	35	21310											
CPXM1	56265	broad.mit.edu	37	chr20	2775986	2775986	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggcaattcattctcGtgagggaacttgtcacagga	9	11	12	9	1	3	1	2	1	1	0	5	3	4	3	1	4	1	1	1	4	2	3			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chr20:2775986G>A	ENST00000380605.2	-	12	1861	c.1797C>T	c.(1795-1797)caC>caT	p.H599H		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	599					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						ATTCATTCTCGTGAGGGAACT	0.567													A	2775986	G	A	2775986	2	1	316	1	0	0	0	0	0	0	0	1	3868	1136	40	1		1	CPXM1	20	2775986	Silent	SNP	G	TCGA-DB-A4XB-01A-11D-A26M-08		2775986	60249534	36	21311											
EIF1AX	1964	broad.mit.edu	37	chrX	20156713	20156713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	6	18	4	13	1	4	1	2	0	3	1	5	1	4	1	3	0	3	1	3	0	2	7			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:20156713C>A	ENST00000379607.5	-	2	247	c.44G>T	c.(43-45)gGt>gTt	p.G15V	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													A	20156713	C	A	20156713	3	1	316	1	0	0	0	0	1	0	0	0	5031	507	18	4	414	4	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-DB-A4XB-01A-11D-A26M-08		20156713	135113847	37	21312											
ATRX	546	broad.mit.edu	37	chrX	76855199	76855199	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacgaaaaagtattcgatttActttgtataatcatcggagc	14	13	7	7	3	1	0	1	0	0	0	3	3	1	1	0	1	2	2	0	1	6	7			TCGA-DB-A4XB-01A-11D-A26M-08	TCGA-DB-A4XB-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9aaf7e22-1669-4db1-b137-944ff01ddbdc	456815aa-07ae-46de-bf95-78b15569f6b1	g.chrX:76855199A>G	ENST00000373344.5	-	24	6001		c.e24+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TATTCGATTTACTTTGTATAA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76855199	A	G	76855199	5	3	316	1	0	0	0	0	0	0	1	0	1213	405	14	3	1738	3	ATRX	23	76855199	Splice_Site	SNP	A	TCGA-DB-A4XB-01A-11D-A26M-08	56698486	76855199	78415361	38	21313											
TIE1	7075	broad.mit.edu	37	chr1	43784936	43784936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacctggctgcccggaatGtgctggtcggagagaaccta	8	7	16	10	2	0	1	0	0	0	1	1	5	0	4	3	5	3	2	3	5	3	1	rs45475401	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:43784936G>A	ENST00000372476.3	+	18	3032	c.2953G>A	c.(2953-2955)Gtg>Atg	p.V985M	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.V630M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	985	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TGCCCGGAATGTGCTGGTCGG	0.562													A	43784936	G	A	43784936	3	1	317	1	0	0	0	0	1	0	0	0	15993	1377	48	2	3023	2	TIE1	1	43784936	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		43784936	205465685	1	21314											
S100A9	6280	broad.mit.edu	37	chr1	153333307	153333307	+	Frame_Shift_Del	DEL	C	C	-																															gccaggcctcggggagggcaCcccctaagaccacagtggcc																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr1:153333307delC	ENST00000368738.3	+	3	381	c.338delC	c.(337-339)accfs	p.T113fs		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	113					cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGGGAGGGCACCCCCTAAGAC	0.652													-	153333307	C	-	153333307	7	5	317	1	0	1	0	1	0	0	0	0	13878	507	18	0	344	0	S100A9	1	153333307	Frame_Shift_Del	DEL	C	TCGA-DB-A4XC-01A-11D-A26M-08	109548371	153333307	95917314	2	21315											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	317	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		209113112	34086261	3	21316											
TMEM161B	153396	broad.mit.edu	37	chr5	87502987	87502987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtgtgtagttaatgaaaAtagaactttgctgcagaagg	15	12	11	3	0	0	3	0	1	0	2	0	3	0	3	0	1	3	4	0	1	8	5			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:87502987A>G	ENST00000296595.6	-	6	581	c.457T>C	c.(457-459)Ttt>Ctt	p.F153L	TMEM161B_ENST00000512429.1_Missense_Mutation_p.F142L|TMEM161B_ENST00000506536.1_Intron|TMEM161B_ENST00000511218.1_Intron|TMEM161B_ENST00000514135.1_Missense_Mutation_p.F153L|TMEM161B_ENST00000509387.1_Missense_Mutation_p.F26L	NM_153354.3	NP_699185.1	Q8NDZ6	T161B_HUMAN	transmembrane protein 161B	153						integral to membrane				endometrium(4)|large_intestine(3)|lung(9)|skin(3)|upper_aerodigestive_tract(1)	20		all_cancers(142;0.000275)|Lung NSC(167;0.00901)|all_lung(232;0.0111)|Colorectal(57;0.0959)|Ovarian(174;0.1)		OV - Ovarian serous cystadenocarcinoma(54;6.24e-36)|Epithelial(54;6.8e-31)|all cancers(79;1.07e-26)		GTTAATGAAAATAGAACTTTG	0.318													G	87502987	A	G	87502987	3	3	317	1	0	0	0	0	1	0	0	0	16177	101	4	3	1034	3	TMEM161B	5	87502987	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		87502987	93412273	4	21317											
ERAP1	51752	broad.mit.edu	37	chr5	96116772	96116775	+	Frame_Shift_Del	DEL	GTTT	GTTT	-																															caccacttacttttgtacaaGtttgttccagtttttcctca																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:96116772_96116775delGTTT	ENST00000296754.3	-	17	2832_2835	c.2575_2578delAAAC	c.(2575-2580)aaacttfs	p.KL859fs	ERAP1_ENST00000443439.2_Frame_Shift_Del_p.KL859fs	NM_016442.3	NP_057526.3	Q9NZ08	ERAP1_HUMAN	endoplasmic reticulum aminopeptidase 1	859					angiogenesis|antigen processing and presentation of endogenous peptide antigen via MHC class I|fat cell differentiation|membrane protein ectodomain proteolysis|regulation of blood pressure|regulation of innate immune response|response to bacterium	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region|integral to membrane	aminopeptidase activity|interleukin-1, Type II receptor binding|interleukin-6 receptor binding|metalloexopeptidase activity|zinc ion binding			endometrium(7)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|stomach(2)	19		all_cancers(142;1.75e-06)|all_epithelial(76;3.08e-09)|all_lung(232;0.000435)|Lung NSC(167;0.000601)|Ovarian(225;0.024)|Colorectal(57;0.0432)|Breast(839;0.244)		all cancers(79;7.26e-15)|COAD - Colon adenocarcinoma(37;0.071)		TTTTGTACAAGTTTGTTCCAGTTT	0.387													-	96116775	GTTT	-	96116772	7	5	317	1	0	1	0	1	0	0	0	0	5244	1029	36	0	292	0	ERAP1	5	96116772	Frame_Shift_Del	DEL	GTTT	TCGA-DB-A4XC-01A-11D-A26M-08	8613785	96116772	84798488	5	21318											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710809	140710809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtgcaacagggagcCgatgggcctcaacatccaga	11	6	13	11	1	1	1	1	0	0	1	2	4	2	3	3	3	4	1	3	3	2	0			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:140710809C>T	ENST00000517417.1	+	1	558	c.558C>T	c.(556-558)gcC>gcT	p.A186A	PCDHGA1_ENST00000378105.3_Silent_p.A186A	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACAGGGAGCCGATGGGCCTC	0.527													T	140710809	C	T	140710809	2	4	317	1	0	0	0	0	0	0	0	1	11626	639	23	1		1	PCDHGA1	5	140710809	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	44594037	140710809	40204451	6	21319											
PCYOX1L	78991	broad.mit.edu	37	chr5	148748023	148748023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcccctctatggctccCgccccacgctcccgaggttt	4	9	7	21	3	1	0	0	0	1	0	4	1	4	0	7	2	0	3	7	2	1	2	rs142120062	byFrequency	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr5:148748023C>A	ENST00000514349.1	+	5	1600	c.1021C>A	c.(1021-1023)Cgc>Agc	p.R341S	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.R431S			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	431					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTATGGCTCCCGCCCCACGCT	0.622													A	148748023	C	A	148748023	3	1	317	1	0	0	0	0	1	0	0	0	11685	652	23	4	1313	4	PCYOX1L	5	148748023	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	8037214	148748023	32167237	7	21320											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													G	45390466	A	G	45390466	2	3	317	1	0	0	0	0	0	0	0	1	13839	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		45390466	125724601	8	21321											
TFAP2B	7021	broad.mit.edu	37	chr6	50811003	50811003	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgaggcgctcaaaggCatggacaagatgttcttgaa	12	8	11	10	2	3	2	2	1	1	1	3	4	3	3	1	3	0	3	1	3	3	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:50811003C>G	ENST00000263046.4	+	8	1474	c.1308C>G	c.(1306-1308)ggC>ggG	p.G436G	TFAP2B_ENST00000393655.3_Silent_p.G427G			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	427				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGCTCAAAGGCATGGACAAGA	0.582													G	50811003	C	G	50811003	2	3	317	1	0	0	0	0	0	0	0	1	15888	697	25	4		4	TFAP2B	6	50811003	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	5420537	50811003	120304064	9	21322											
IL17F	112744	broad.mit.edu	37	chr6	52109195	52109195	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgattgctgctactcacCatggctgggccatgcagggt	8	10	13	10	0	1	1	1	1	0	0	1	2	1	1	2	3	4	4	2	3	2	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:52109195C>A	ENST00000336123.4	-	1	140	c.33G>T	c.(31-33)atG>atT	p.M11I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	11					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TGCTACTCACCATGGCTGGGC	0.453													A	52109195	C	A	52109195	5	1	317	1	0	0	0	0	0	0	1	0	7696	608	21	4	470	4	IL17F	6	52109195	Splice_Site	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08	1298192	52109195	119005872	10	21323											
MAP3K4	4216	broad.mit.edu	37	chr6	161512543	161512543	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagtactaccgagaagcaAtgattcaggggtacaatttt	15	10	9	7	1	1	2	1	1	0	1	1	3	1	2	1	2	5	3	1	2	7	6			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr6:161512543A>G	ENST00000392142.4	+	12	3254	c.3106A>G	c.(3106-3108)Atg>Gtg	p.M1036V	MAP3K4_ENST00000348824.7_Missense_Mutation_p.M1036V|MAP3K4_ENST00000366920.2_Missense_Mutation_p.M1036V|MAP3K4_ENST00000366919.2_Missense_Mutation_p.M1036V	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1036					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		CCGAGAAGCAATGATTCAGGG	0.393													G	161512543	A	G	161512543	3	3	317	1	0	0	0	0	1	0	0	0	9327	101	4	3	3152	3	MAP3K4	6	161512543	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08	109403348	161512543	9602524	11	21324											
TNRC18	84629	broad.mit.edu	37	chr7	5352461	5352461	+	Frame_Shift_Del	DEL	G	G	-																															gaagggccagccgtgggggcGggggctgcctcatcgtccga																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr7:5352461delG	ENST00000399537.4	-	27	8409	c.8061delC	c.(8059-8061)cccfs	p.P2687fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P2687fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2687							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCGTGGGGGCGGGGGCTGCCT	0.687													-	5352461	G	-	5352461	7	5	317	1	0	1	0	1	0	0	0	0	16439	1103	39	0	861	0	TNRC18	7	5352461	Frame_Shift_Del	DEL	G	TCGA-DB-A4XC-01A-11D-A26M-08		5352461	153786202	12	21325											
FAM166B	730112	broad.mit.edu	37	chr9	35563239	35563241	+	In_Frame_Del	DEL	AGG	AGG	-																															agactctccctgggaacctcAggagatcttggaggccgaat																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr9:35563239_35563241delAGG	ENST00000399742.2	-	2	278_280	c.208_210delCCT	c.(208-210)cctdel	p.P70del	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	70										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						TGGGAACCTCAGGAGATCTTGGA	0.601													-	35563241	AGG	-	35563239	7	5	317	1	0	1	0	1	0	0	0	0	5527	175	7	0	456	0	FAM166B	9	35563239	In_Frame_Del	DEL	AGG	TCGA-DB-A4XC-01A-11D-A26M-08		35563239	105650192	13	21326											
C11orf30	56946	broad.mit.edu	37	chr11	76174901	76174901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagatgaaaaacccagaaAacgaaggcgaacaaactctt	20	5	8	8	2	1	4	0	2	1	2	1	6	1	4	1	1	4	0	1	1	8	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr11:76174901A>G	ENST00000529032.1	+	6	608	c.608A>G	c.(607-609)aAa>aGa	p.K203R	C11orf30_ENST00000525919.1_Missense_Mutation_p.K204R|C11orf30_ENST00000533248.1_Missense_Mutation_p.K217R|C11orf30_ENST00000524490.1_Missense_Mutation_p.K204R|C11orf30_ENST00000525038.1_Missense_Mutation_p.K218R|C11orf30_ENST00000343878.3_Missense_Mutation_p.K203R|C11orf30_ENST00000334736.3_Missense_Mutation_p.K203R|C11orf30_ENST00000524767.1_Missense_Mutation_p.K218R			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	203	Interaction with BRCA2.				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						AAACCCAGAAAACGAAGGCGA	0.413													G	76174901	A	G	76174901	3	3	317	1	0	0	0	0	1	0	0	0	1648	14	1	3	630	3	C11orf30	11	76174901	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		76174901	58831615	14	21327											
DTX1	1840	broad.mit.edu	37	chr12	113515358	113515358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatctgcatcaccatccAgaacgcctacgagaagcagc	13	5	9	14	2	2	2	1	0	1	2	3	4	3	3	3	1	5	2	3	1	3	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr12:113515358A>G	ENST00000257600.3	+	2	892	c.389A>G	c.(388-390)cAg>cGg	p.Q130R		NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	130	WWE 2.				negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						ATCACCATCCAGAACGCCTAC	0.607													G	113515358	A	G	113515358	3	3	317	1	0	0	0	0	1	0	0	0	4832	188	7	3	395	3	DTX1	12	113515358	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		113515358	20336537	15	21328											
KIAA0586	9786	broad.mit.edu	37	chr14	58899174	58899177	+	Splice_Site	DEL	AAGT	AAGT	-																															taagaacagttttaaagcaaAagtaagtttcatttacagaa																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:58899174_58899177delAAGT	ENST00000423743.3	+	4	412_413	c.154_155delAAGT	c.(154-156)aag>g	p.K52fs	KIAA0586_ENST00000556134.1_Splice_Site_p.K122fs|KIAA0586_ENST00000354386.6_Splice_Site_p.K149fs|KIAA0586_ENST00000261244.5_Splice_Site_p.K137fs	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	136										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTTAAAGCAAAAGTAAGTTTCATT	0.279													-	58899177	AAGT	-	58899174	8	5	317	1	0	1	0	1	0	0	1	0	8244	28	1	0	423	0	KIAA0586	14	58899174	Splice_Site	DEL	AAGT	TCGA-DB-A4XC-01A-11D-A26M-08		58899174	48450366	16	21329											
RPS6KL1	83694	broad.mit.edu	37	chr14	75386664	75386664	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcacgtcgctccttgtTggggtcaactgtgggagaca	7	10	13	11	2	2	1	2	0	0	1	4	2	3	1	2	3	2	2	2	3	1	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr14:75386664T>G	ENST00000555647.1	-	4	561	c.274A>C	c.(274-276)Aac>Cac	p.N92H	RPS6KL1_ENST00000557413.1_Missense_Mutation_p.N92H|RPS6KL1_ENST00000354625.2_Missense_Mutation_p.N92H|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.N92H|RPS6KL1_ENST00000554900.1_5'UTR			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	92	MIT.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CGCTCCTTGTTGGGGTCAACT	0.607													G	75386664	T	G	75386664	3	3	317	1	0	0	0	0	1	0	0	0	13750	1812	63	5	1387	5	RPS6KL1	14	75386664	Missense_Mutation	SNP	T	TCGA-DB-A4XC-01A-11D-A26M-08	16487490	75386664	31962876	17	21330											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059040	79059040	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggacagatcctcgtggaaAttgatgaaattgtagtcgta	13	12	11	5	2	0	3	0	2	0	1	3	5	1	5	1	2	0	2	1	2	5	5	rs144043775	by1000genomes	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr15:79059040A>G	ENST00000388820.4	-	19	3423	c.3213T>C	c.(3211-3213)aaT>aaC	p.N1071N		NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	1071					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N1071N(2)|p.N1071S(2)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CCTCGTGGAAATTGATGAAAT	0.617													G	79059040	A	G	79059040	2	3	317	1	0	0	0	0	0	0	0	1	271	98	4	3		3	ADAMTS7	15	79059040	Silent	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08		79059040	23472352	18	21331											
MMP25	64386	broad.mit.edu	37	chr16	3108981	3108981	+	Frame_Shift_Del	DEL	C	C	-																															ccccaggccccccaaagcgaCccccgtgtccgaaacctgcg																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:3108981delC	ENST00000336577.4	+	10	1808	c.1571delC	c.(1570-1572)accfs	p.T524fs	RP11-473M20.7_ENST00000572427.1_RNA|RP11-473M20.7_ENST00000572222.1_RNA|RP11-473M20.7_ENST00000576250.1_RNA|RP11-473M20.7_ENST00000572574.1_RNA	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	524					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CCCAAAGCGACCCCCGTGTCC	0.711													-	3108981	C	-	3108981	7	5	317	1	0	1	0	1	0	0	0	0	9738	507	18	0	1609	0	MMP25	16	3108981	Frame_Shift_Del	DEL	C	TCGA-DB-A4XC-01A-11D-A26M-08		3108981	87245772	19	21332											
CNOT1	23019	broad.mit.edu	37	chr16	58589320	58589323	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ggcaggctgttatatgtaacTctttatcaggatactgggga																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr16:58589320_58589323delTCTT	ENST00000317147.5	-	21	3055_3058	c.2723_2726delAAGA	c.(2722-2727)aaagagfs	p.KE908fs	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Frame_Shift_Del_p.KE908fs|CNOT1_ENST00000569240.1_Frame_Shift_Del_p.KE903fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	908					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TATATGTAACTCTTTATCAGGATA	0.373													-	58589323	TCTT	-	58589320	7	5	317	1	0	1	0	1	0	0	0	0	3648	1551	54	0	4742	0	CNOT1	16	58589320	Frame_Shift_Del	DEL	TCTT	TCGA-DB-A4XC-01A-11D-A26M-08	55480339	58589320	31765433	20	21333											
TP53	7157	broad.mit.edu	37	chr17	7579406	7579406	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgggaagggacagaagatGacaggggccaggagggggct	11	4	20	6	0	1	3	0	1	1	2	1	6	1	6	1	7	0	1	1	7	2	0			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:7579406G>C	ENST00000420246.2	-	4	413	c.281C>G	c.(280-282)tCa>tGa	p.S94*	TP53_ENST00000445888.2_Nonsense_Mutation_p.S94*|TP53_ENST00000455263.2_Nonsense_Mutation_p.S94*|TP53_ENST00000413465.2_Nonsense_Mutation_p.S94*|TP53_ENST00000269305.4_Nonsense_Mutation_p.S94*|TP53_ENST00000359597.4_Nonsense_Mutation_p.S94*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	94	Interaction with WWOX.		S -> L (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.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P13fs*18(1)|p.S33fs*23(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)		GACAGAAGATGACAGGGGCCA	0.627		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)			C	7579406	G	C	7579406	4	2	317	1	0	0	0	0	0	1	0	0	16482	1294	45	4	1021	4	TP53	17	7579406	Nonsense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		7579406	73615804	21	21334											
MYH13	8735	broad.mit.edu	37	chr17	10210260	10210260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacagagctcacatccGtgatggccttcttggccttc	9	10	10	12	1	2	3	1	1	1	2	4	4	3	3	3	2	2	1	3	2	2	3			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:10210260G>A	ENST00000418404.3	-	35	5454	c.5291C>T	c.(5290-5292)aCg>aTg	p.T1764M	MYH13_ENST00000252172.4_Missense_Mutation_p.T1764M|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1764					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTCACATCCGTGATGGCCTT	0.517													A	10210260	G	A	10210260	3	1	317	1	0	0	0	0	1	0	0	0	10108	1145	40	1	549	1	MYH13	17	10210260	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08	2630854	10210260	70984950	22	21335											
TADA2A	6871	broad.mit.edu	37	chr17	35783699	35783699	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatgtgggccacctccttTtttcctctgcttgcaggtaa	6	15	9	11	0	1	1	0	1	1	0	3	1	3	1	4	2	2	3	4	2	2	5			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:35783699T>C	ENST00000394395.2	+	3	289	c.116T>C	c.(115-117)tTt>tCt	p.F39S	TADA2A_ENST00000417170.1_Missense_Mutation_p.F39S|TADA2A_ENST00000225396.6_Missense_Mutation_p.F39S|TADA2A_ENST00000586023.1_Missense_Mutation_p.F39S	NM_001166105.1	NP_001159577.1	O75478	TAD2A_HUMAN	transcriptional adaptor 2A	39	Cys-rich.				histone H3 acetylation|transcription from RNA polymerase II promoter	chromosome|PCAF complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity|zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)|skin(1)	13						CCACCTCCTTTTTTCCTCTGC	0.443													C	35783699	T	C	35783699	3	2	317	1	0	0	0	0	1	0	0	0	15607	1841	64	3	122	3	TADA2A	17	35783699	Missense_Mutation	SNP	T	TCGA-DB-A4XC-01A-11D-A26M-08	25573439	35783699	45411511	23	21336											
GRIN2C	2905	broad.mit.edu	37	chr17	72843447	72843449	+	Splice_Site	DEL	CTT	CTT	-																															agcagctatggccccacaacCttcttgtcactgaggcccga																										TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:72843447_72843449delCTT	ENST00000293190.5	-	9	2145_2147	c.1999_2001delAAG	c.(1999-2001)aagdel	p.K667del	GRIN2C_ENST00000347612.4_Splice_Site_p.K667del	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	667					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GCCCCACAACCTTCTTGTCACTG	0.611													-	72843449	CTT	-	72843447	8	5	317	1	0	1	0	1	0	0	1	0	6836	695	24	0	1720	0	GRIN2C	17	72843447	Splice_Site	DEL	CTT	TCGA-DB-A4XC-01A-11D-A26M-08	37059748	72843447	8351763	24	21337											
SLC25A10	1468	broad.mit.edu	37	chr17	79674051	79674051	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatcaagaactacatccAaggcatcaacctcgtccagg	15	6	8	12	1	2	1	2	0	0	1	5	2	4	2	3	3	3	1	3	3	6	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr17:79674051A>G	ENST00000571730.1	+	4	592	c.461A>G	c.(460-462)cAa>cGa	p.Q154R	MRPL12_ENST00000333676.3_Missense_Mutation_p.Q154R|SLC25A10_ENST00000541223.1_Missense_Mutation_p.Q154R			Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	0					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	AACTACATCCAAGGCATCAAC	0.587													G	79674051	A	G	79674051	3	3	317	1	0	0	0	0	1	0	0	0	14566	130	5	3		3	SLC25A10	17	79674051	Missense_Mutation	SNP	A	TCGA-DB-A4XC-01A-11D-A26M-08	6830604	79674051	1521159	25	21338											
RASGRP4	115727	broad.mit.edu	37	chr19	38909083	38909083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgcacgctgtaggggcccgGgacggctcagcaccatcacc	7	5	14	15	3	2	0	2	0	0	0	2	1	2	1	3	4	2	5	3	4	1	1			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr19:38909083G>A	ENST00000454404.2	-	7	896	c.683C>T	c.(682-684)cCc>cTc	p.P228L	RASGRP4_ENST00000587753.1_Missense_Mutation_p.P262L|RASGRP4_ENST00000293062.9_Intron|RASGRP4_ENST00000433821.2_Missense_Mutation_p.P262L|RASGRP4_ENST00000426920.2_Intron|RASGRP4_ENST00000586305.1_Missense_Mutation_p.P248L|RASGRP4_ENST00000587738.1_Missense_Mutation_p.P262L	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	262	Ras-GEF.				activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TAGGGGCCCGGGACGGCTCAG	0.662													A	38909083	G	A	38909083	3	1	317	1	0	0	0	0	1	0	0	0	13165	1232	43	2	1280	2	RASGRP4	19	38909083	Missense_Mutation	SNP	G	TCGA-DB-A4XC-01A-11D-A26M-08		38909083	20219900	26	21339											
SSTR4	6754	broad.mit.edu	37	chr20	23016513	23016513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcgacggcctcaacatgttCaccagcgtcttctgtctcac	7	11	8	15	3	5	0	3	0	3	0	7	1	5	0	2	1	2	1	2	1	1	2			TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chr20:23016513C>G	ENST00000255008.3	+	1	457	c.393C>G	c.(391-393)ttC>ttG	p.F131L	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	131					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCAACATGTTCACCAGCGTCT	0.711													G	23016513	C	G	23016513	3	3	317	1	0	0	0	0	1	0	0	0	15296	825	29	4	395	4	SSTR4	20	23016513	Missense_Mutation	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		23016513	40009007	27	21340											
MAGEB16	139604	broad.mit.edu	37	chrX	35820265	35820265	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taggcagtgattcttcattgCctgccctcctgtccacactc	6	13	7	15	0	2	1	1	1	1	0	5	1	4	1	4	1	2	1	4	1	1	4	rs5928990	by1000genomes	TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:35820265C>T	ENST00000399992.1	+	3	147	c.48C>T	c.(46-48)tgC>tgT	p.C16C	MAGEB16_ENST00000399987.1_5'UTR|MAGEB16_ENST00000399989.1_5'UTR|MAGEB16_ENST00000399988.1_5'UTR|MAGEB16_ENST00000399985.1_5'UTR			A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	0										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TTCTTCATTGCCTGCCCTCCT	0.522													T	35820265	C	T	35820265	2	4	317	1	0	0	0	0	0	0	0	1	9249	754	26	2		2	MAGEB16	23	35820265	Silent	SNP	C	TCGA-DB-A4XC-01A-11D-A26M-08		35820265	119450295	28	21341											
ATRX	546	broad.mit.edu	37	chrX	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gccttctgctgaagagaaagTctctctctcttgttttcttt																								rs141180098		TCGA-DB-A4XC-01A-11D-A26M-08	TCGA-DB-A4XC-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b377c971-575a-49c8-896e-77eaf183423d	338ea083-8e51-4a68-b230-99b8c8356483	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					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.E886fs*18(1)|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)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938092	TCTC	-	76938089	7	5	317	1	0	1	0	1	0	0	0	0	1213	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-DB-A4XC-01A-11D-A26M-08	41117824	76938089	78332471	29	21342											
ABCG8	64241	broad.mit.edu	37	chr2	44099378	44099378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcagcgtgaccccactaGacaccaactgcctcccgagt	10	5	8	18	2	0	2	0	1	0	1	1	3	1	2	6	0	4	1	6	0	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:44099378G>A	ENST00000272286.2	+	8	1234	c.1144G>A	c.(1144-1146)Gac>Aac	p.D382N		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	382					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GACCCCACTAGACACCAACTG	0.582													A	44099378	G	A	44099378	3	1	318	1	0	0	0	0	1	0	0	0	72	942	33	2	1174	2	ABCG8	2	44099378	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08		44099378	199099995	1	21343											
LONRF2	164832	broad.mit.edu	37	chr2	100915722	100915722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactcaaagtcagttacatCaagcgagagcccctgacttt	13	9	7	12	1	3	2	3	1	0	1	3	3	3	2	2	0	3	1	2	0	3	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:100915722C>T	ENST00000393437.3	-	6	1966	c.1327G>A	c.(1327-1329)Gat>Aat	p.D443N	LONRF2_ENST00000409647.1_Missense_Mutation_p.D200N	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	443					proteolysis		ATP-dependent peptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						TCAGTTACATCAAGCGAGAGC	0.418													T	100915722	C	T	100915722	3	4	318	1	0	0	0	0	1	0	0	0	8965	826	29	2	965	2	LONRF2	2	100915722	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	56816344	100915722	142283651	2	21344											
TTN	7273	broad.mit.edu	37	chr2	179587270	179587270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaaggtgggagttggCgctctgtagggagacatgta	12	8	16	5	1	1	2	0	0	1	2	1	4	1	3	0	4	0	4	0	4	5	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:179587270C>T	ENST00000589042.1	-	77	22468	c.22244G>A	c.(22243-22245)cGc>cAc	p.R7415H	TTN_ENST00000342992.6_Missense_Mutation_p.R6171H|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.R7098H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7098	Ig-like 56.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGGAGTTGGCGCTCTGTAGG	0.378													T	179587270	C	T	179587270	3	4	318	1	0	0	0	0	1	0	0	0	16837	768	27	1	82429	1	TTN	2	179587270	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	78671548	179587270	63612103	3	21345											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	318	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	29525843	209113113	34086260	4	21346											
TBL1XR1	79718	broad.mit.edu	37	chr3	176782756	176782756	+	Frame_Shift_Del	DEL	T	T	-																															gaagttgacctcatcactgcTtatactcatctttattccca																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr3:176782756delT	ENST00000430069.1	-	3	269	c.10delA	c.(10-12)agcfs	p.S5fs	TBL1XR1_ENST00000457928.2_Frame_Shift_Del_p.S5fs			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	5	LisH.				canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			TCATCACTGCTTATACTCATC	0.289													-	176782756	T	-	176782756	7	5	318	1	0	1	0	1	0	0	0	0	15740	1609	56	0	1590	0	TBL1XR1	3	176782756	Frame_Shift_Del	DEL	T	TCGA-DB-A4XD-01A-11D-A27K-08		176782756	21239674	5	21347											
ANK2	287	broad.mit.edu	37	chr4	114278387	114278387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctgccacatcttctatTcaaaaaacagaggtcacaaa	17	10	4	10	0	5	1	2	0	3	1	5	1	5	1	1	1	2	0	1	1	6	4			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr4:114278387T>C	ENST00000357077.4	+	38	8666	c.8613T>C	c.(8611-8613)atT>atC	p.I2871I	ANK2_ENST00000264366.6_Silent_p.I2838I|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2838					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CATCTTCTATTCAAAAAACAG	0.373													C	114278387	T	C	114278387	2	2	318	1	0	0	0	0	0	0	0	1	621	1771	62	3		3	ANK2	4	114278387	Silent	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		114278387	76875889	6	21348											
SLC6A3	6531	broad.mit.edu	37	chr5	1416304	1416304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacacctgggtggccgCgtcaatccaaacctgcagag	11	5	12	13	2	1	1	1	0	0	1	2	2	2	1	4	2	3	2	4	2	3	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:1416304C>T	ENST00000270349.9	-	7	1067	c.940G>A	c.(940-942)Gcg>Acg	p.A314T	SLC6A3_ENST00000453492.2_Missense_Mutation_p.A314T	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	314					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGGTGGCCGCGTCAATCCAA	0.627													T	1416304	C	T	1416304	3	4	318	1	0	0	0	0	1	0	0	0	14779	768	27	1	958	1	SLC6A3	5	1416304	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		1416304	179498956	7	21349											
KLHL3	26249	broad.mit.edu	37	chr5	136993906	136993906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggagatggtatttcaTggcctcaatgaggaagtctt	11	11	14	5	0	3	2	2	1	1	1	3	5	3	4	1	5	0	1	1	5	3	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:136993906T>C	ENST00000508657.1	-	8	1435	c.721A>G	c.(721-723)Atg>Gtg	p.M241V	KLHL3_ENST00000506873.1_5'UTR|KLHL3_ENST00000541417.1_Missense_Mutation_p.M153V|KLHL3_ENST00000394937.3_Missense_Mutation_p.M273V|KLHL3_ENST00000309755.4_Missense_Mutation_p.M273V|KLHL3_ENST00000506491.1_Missense_Mutation_p.M191V	NM_001257194.1	NP_001244123.1	Q9UH77	KLHL3_HUMAN	kelch-like family member 3	273						cytoplasm|cytoskeleton	actin binding|structural molecule activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)	21		all_hematologic(541;3.67e-07)|Breast(839;7.61e-05)|Prostate(281;0.000825)|Ovarian(839;0.0481)|all_lung(232;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	GBM - Glioblastoma multiforme(465;0.0223)		TGGTATTTCATGGCCTCAATG	0.473													C	136993906	T	C	136993906	3	2	318	1	0	0	0	0	1	0	0	0	8441	1464	51	3	978	3	KLHL3	5	136993906	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	135577602	136993906	43921354	8	21350											
PCDHA10	56139	broad.mit.edu	37	chr5	140237074	140237074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggtgtctgcgtgggacGcggacgcgcaggagaacgcc	7	5	17	12	7	2	1	1	0	1	1	2	4	2	3	1	4	2	1	1	4	1	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140237074G>A	ENST00000307360.5	+	1	1441	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T	PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A481T|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018901.2	NP_061724.1												p.A481S(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGTGGGACGCGGACGCGCA	0.662													A	140237074	G	A	140237074	3	1	318	1	0	0	0	0	1	0	0	0	11596	1087	38	1	1443	1	PCDHA10	5	140237074	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	3243168	140237074	40678186	9	21351											
PCDHB3	56132	broad.mit.edu	37	chr5	140480514	140480514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaattggaccgggaggAgctatgcggccccacagaac	12	5	14	10	2	0	2	0	1	0	2	0	6	0	5	3	4	3	1	3	4	3	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr5:140480514A>G	ENST00000231130.2	+	1	281	c.281A>G	c.(280-282)gAg>gGg	p.E94G	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		94	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACCGGGAGGAGCTATGCGGC	0.463													G	140480514	A	G	140480514	3	3	318	1	0	0	0	0	1	0	0	0	11619	304	11	3	283	3	PCDHB3	5	140480514	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08	243440	140480514	40434746	10	21352											
SERPINB9	5272	broad.mit.edu	37	chr6	2892078	2892078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gggtcttaccgtgctgagctCcacgccgtcgtcaggcagca	6	8	13	14	4	2	1	1	1	1	0	4	1	3	1	3	2	4	4	3	2	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:2892078C>G	ENST00000380698.4	-	6	801	c.712G>C	c.(712-714)Gag>Cag	p.E238Q		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	238					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GTGCTGAGCTCCACGCCGTCG	0.642													G	2892078	C	G	2892078	3	3	318	1	0	0	0	0	1	0	0	0	14201	864	30	4	426	4	SERPINB9	6	2892078	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		2892078	168222989	11	21353											
DEK	7913	broad.mit.edu	37	chr6	18236804	18236804	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttaattaaaggttcaTcatctgaactatcctcagac	13	15	4	9	0	4	2	3	1	1	1	5	2	5	2	1	1	1	1	1	1	5	6			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:18236804T>G	ENST00000397239.3	-	9	1373	c.926A>C	c.(925-927)gAt>gCt	p.D309A	DEK_ENST00000244776.7_Missense_Mutation_p.D275A	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	309	Asp/Glu-rich (acidic).				chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TAAAGGTTCATCATCTGAACT	0.294			T	NUP214	AML								G	18236804	T	G	18236804	3	3	318	1	0	0	0	0	1	0	0	0	4463	1435	50	5	213	5	DEK	6	18236804	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	15344726	18236804	152878263	12	21354											
BCLAF1	9774	broad.mit.edu	37	chr6	136588241	136588241	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtctcttttgaaaagtagTatttgagttgtttggaccag	9	16	11	5	1	1	2	0	2	1	0	2	3	1	3	1	2	0	4	1	2	4	7			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:136588241T>G	ENST00000531224.1	-	11	2722	c.2470A>C	c.(2470-2472)Act>Cct	p.T824P	BCLAF1_ENST00000353331.4_Intron|BCLAF1_ENST00000530767.1_Missense_Mutation_p.T651P|BCLAF1_ENST00000392348.2_Intron|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000527536.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.T822P|BCLAF1_ENST00000031135.9_Missense_Mutation_p.T42P	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	824					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAAAAGTAGTATTTGAGTTG	0.393													G	136588241	T	G	136588241	3	3	318	1	0	0	0	0	1	0	0	0	1388	1638	57	5	304	5	BCLAF1	6	136588241	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	118351437	136588241	34526826	13	21355											
SYNE1	23345	broad.mit.edu	37	chr6	152763234	152763234	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcggcgttcctgcctctcCcggctgcgctccaggccatc	3	9	11	18	4	1	0	0	0	1	0	5	0	3	0	5	3	3	3	5	3	0	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:152763234C>A	ENST00000367255.5	-	31	4585	c.3984G>T	c.(3982-3984)cgG>cgT	p.R1328R	SYNE1_ENST00000367253.4_Silent_p.R1328R|SYNE1_ENST00000423061.1_Silent_p.R1335R|SYNE1_ENST00000413186.2_Silent_p.R1328R|SYNE1_ENST00000341594.5_Silent_p.R1394R|SYNE1_ENST00000448038.1_Silent_p.R1335R|SYNE1_ENST00000367248.3_Silent_p.R1318R|SYNE1_ENST00000265368.4_Silent_p.R1328R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1328					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)		CCTGCCTCTCCCGGCTGCGCT	0.632										HNSCC(10;0.0054)			A	152763234	C	A	152763234	2	1	318	1	0	0	0	0	0	0	0	1	15542	610	22	4		4	SYNE1	6	152763234	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	16174993	152763234	18351833	14	21356											
TTLL2	83887	broad.mit.edu	37	chr6	167752140	167752140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttgttcacagatcttTgagaaccaccaccccagcct	9	11	6	15	0	2	2	1	1	1	2	2	3	2	2	5	0	3	2	5	0	1	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr6:167752140T>C	ENST00000239587.5	+	2	141	c.53T>C	c.(52-54)tTg>tCg	p.L18S		NM_031949.4	NP_114155.4	Q9BWV7	TTLL2_HUMAN	tubulin tyrosine ligase-like family, member 2	18					protein modification process		ATP binding|tubulin-tyrosine ligase activity			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(66;7.8e-06)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CACAGATCTTTGAGAACCACC	0.488													C	167752140	T	C	167752140	3	2	318	1	0	0	0	0	1	0	0	0	16829	1821	63	3	59	3	TTLL2	6	167752140	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	14988906	167752140	3362927	15	21357											
WBSCR17	64409	broad.mit.edu	37	chr7	70800596	70800596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggtaaagggggccttcCggctactctttccccggctg	4	9	15	13	3	1	0	0	0	1	0	3	0	3	0	4	6	1	3	4	6	3	4	rs140476927		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:70800596C>T	ENST00000333538.5	+	2	933	c.299C>T	c.(298-300)cCg>cTg	p.P100L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	100						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GGGGGCCTTCCGGCTACTCTT	0.463													T	70800596	C	T	70800596	3	4	318	1	0	0	0	0	1	0	0	0	17366	652	23	1	305	1	WBSCR17	7	70800596	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		70800596	88338067	16	21358											
LMTK2	22853	broad.mit.edu	37	chr7	97736519	97736521	+	In_Frame_Del	DEL	GCT	GCT	-																															ccgccggcgttgcggcggagGctgctgctgctgctgctggt																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:97736519_97736521delGCT	ENST00000297293.5	+	1	323_325	c.30_32delGCT	c.(28-33)aggctg>agg	p.L16del		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	16					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TGCGGCGGAGGCTGCTGCTGCTG	0.764													-	97736521	GCT	-	97736519	7	5	318	1	0	1	0	1	0	0	0	0	8920	1194	42	0	32	0	LMTK2	7	97736519	In_Frame_Del	DEL	GCT	TCGA-DB-A4XD-01A-11D-A27K-08	26935923	97736519	61402144	17	21359											
CPA1	1357	broad.mit.edu	37	chr7	130023308	130023308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggagtgggtcacccaggCcagtggggtctggtttgcaa	6	8	17	10	1	2	0	1	0	1	0	2	1	2	1	3	6	1	2	3	6	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr7:130023308C>T	ENST00000011292.3	+	5	710	c.560C>T	c.(559-561)gCc>gTc	p.A187V	CPA1_ENST00000484324.1_Missense_Mutation_p.A99V	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	187					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GTCACCCAGGCCAGTGGGGTC	0.642													T	130023308	C	T	130023308	3	4	318	1	0	0	0	0	1	0	0	0	3820	739	26	2	578	2	CPA1	7	130023308	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	32286789	130023308	29115355	18	21360											
MFHAS1	9258	broad.mit.edu	37	chr8	8750372	8750372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccccaggttcagtgccTcaatgtccccgaggttggcc	5	11	11	14	1	2	0	2	0	0	0	4	1	4	0	6	3	1	3	6	3	1	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:8750372T>G	ENST00000276282.6	-	1	783	c.197A>C	c.(196-198)gAg>gCg	p.E66A		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	66										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GTTCAGTGCCTCAATGTCCCC	0.746													G	8750372	T	G	8750372	3	3	318	1	0	0	0	0	1	0	0	0	9596	1551	54	5	2973	5	MFHAS1	8	8750372	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		8750372	137613650	19	21361											
KIAA1429	25962	broad.mit.edu	37	chr8	95503832	95503832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggtggtgtgaaaaacCtattctgactgtggaaagca	14	9	12	6	0	1	2	0	2	1	0	1	3	1	3	1	3	3	2	1	3	5	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:95503832C>T	ENST00000297591.5	-	22	5189	c.5114G>A	c.(5113-5115)aGg>aAg	p.R1705K	KIAA1429_ENST00000437199.1_3'UTR	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1705					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTGAAAAACCTATTCTGACT	0.393													T	95503832	C	T	95503832	3	4	318	1	0	0	0	0	1	0	0	0	8289	681	24	2	336	2	KIAA1429	8	95503832	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	86753460	95503832	50860190	20	21362											
COL22A1	169044	broad.mit.edu	37	chr8	139768055	139768055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtacaccaggtggcccCgcaggtcccacgtcaccctg	6	6	11	18	2	1	0	1	0	0	0	2	0	2	0	6	4	1	2	6	4	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr8:139768055C>T	ENST00000303045.6	-	19	2366	c.1920G>A	c.(1918-1920)gcG>gcA	p.A640A	COL22A1_ENST00000435777.1_Silent_p.A640A	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	640	Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CAGGTGGCCCCGCAGGTCCCA	0.547										HNSCC(7;0.00092)			T	139768055	C	T	139768055	2	4	318	1	0	0	0	0	0	0	0	1	3712	639	23	1		1	COL22A1	8	139768055	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	44264223	139768055	6595967	21	21363											
KANK1	23189	broad.mit.edu	37	chr9	713193	713193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtaggggaatctctggaGaacccccagcctcaagctcc	9	7	10	15	0	2	1	1	0	1	1	4	3	3	2	5	3	3	2	5	3	4	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:713193G>A	ENST00000382303.1	+	7	3079	c.2427G>A	c.(2425-2427)gaG>gaA	p.E809E	KANK1_ENST00000382297.2_Silent_p.E809E|KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382293.3_Silent_p.E651E	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	809					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		AATCTCTGGAGAACCCCCAGC	0.572													A	713193	G	A	713193	2	1	318	1	0	0	0	0	0	0	0	1	8034	933	33	2		2	KANK1	9	713193	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08		713193	140500238	22	21364											
SNAPC4	6621	broad.mit.edu	37	chr9	139291430	139291430	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcaggccaacagttaccGagatcgggggatcggcagga	12	5	15	9	3	1	2	1	0	0	2	3	5	1	4	2	5	2	2	2	5	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr9:139291430G>A	ENST00000298532.2	-	2	544	c.176C>T	c.(175-177)tCg>tTg	p.S59L		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	59					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		AACAGTTACCGAGATCGGGGG	0.567													A	139291430	G	A	139291430	5	1	318	1	0	0	0	0	0	0	1	0	14931	1072	37	1	4317	1	SNAPC4	9	139291430	Splice_Site	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	138578237	139291430	1922001	23	21365											
NUDT13	25961	broad.mit.edu	37	chr10	74879835	74879835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcccagcaaacaggagCgttttacctctttcatagtc	13	10	7	11	1	2	0	1	0	1	0	3	1	2	1	2	1	5	2	2	1	5	4	rs145352986	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr10:74879835C>T	ENST00000357321.4	+	3	261	c.143C>T	c.(142-144)gCg>gTg	p.A48V	NUDT13_ENST00000488223.1_3'UTR|NUDT13_ENST00000544879.1_5'UTR|NUDT13_ENST00000537969.1_5'UTR|NUDT13_ENST00000372997.3_Missense_Mutation_p.A48V|NUDT13_ENST00000349051.5_Missense_Mutation_p.A48V	NM_001283016.1|NM_015901.4	NP_001269945.1|NP_056985.3	Q86X67	NUD13_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 13	48							hydrolase activity|metal ion binding			large_intestine(2)|lung(5)	7	Prostate(51;0.0119)					CAAACAGGAGCGTTTTACCTC	0.448													T	74879835	C	T	74879835	3	4	318	1	0	0	0	0	1	0	0	0	10805	768	27	1	149	1	NUDT13	10	74879835	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		74879835	60654912	24	21366											
TBX10	347853	broad.mit.edu	37	chr11	67400532	67400532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgggtccacgaagaccaCgtggaaacggggctggtagc	9	5	17	10	4	0	1	0	0	0	1	1	3	1	2	2	5	2	2	2	5	3	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:67400532C>T	ENST00000335385.3	-	5	679	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	198					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACGAAGACCACGTGGAAACGG	0.567													T	67400532	C	T	67400532	3	4	318	1	0	0	0	0	1	0	0	0	15751	536	19	1	581	1	TBX10	11	67400532	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		67400532	67605984	25	21367											
SERPINH1	871	broad.mit.edu	37	chr11	75282973	75282973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatggcaacccctttgacCaggacatctacgggcgcgag	10	6	12	13	3	1	2	0	1	1	1	1	4	1	3	3	3	2	1	3	3	2	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr11:75282973C>T	ENST00000524558.1	+	5	2537	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	SERPINH1_ENST00000533603.1_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000358171.3_Nonsense_Mutation_p.Q368*|SERPINH1_ENST00000525876.1_Nonsense_Mutation_p.Q151*			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	368					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					CCCCTTTGACCAGGACATCTA	0.617													T	75282973	C	T	75282973	4	4	318	1	0	0	0	0	0	1	0	0	14210	595	21	2	1116	2	SERPINH1	11	75282973	Nonsense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	7882441	75282973	59723543	26	21368											
SLCO1B1	10599	broad.mit.edu	37	chr12	21327629	21327629	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttgactgctttgccacaTttcttcatgggatagtaagt	8	17	9	7	0	2	1	1	1	1	0	2	2	2	2	1	1	2	3	1	1	2	7			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:21327629T>A	ENST00000256958.2	+	4	441	c.345T>A	c.(343-345)caT>caA	p.H115Q		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	115					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	CTTTGCCACATTTCTTCATGG	0.323													A	21327629	T	A	21327629	3	1	318	1	0	0	0	0	1	0	0	0	14817	1490	52	5	355	5	SLCO1B1	12	21327629	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		21327629	112524266	27	21369											
USP44	84101	broad.mit.edu	37	chr12	95926723	95926723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagttgtctctaattcaCgttgtattttatctaaaagt	11	18	5	7	1	3	0	1	0	2	0	4	0	3	0	1	0	1	3	1	0	6	9			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:95926723C>T	ENST00000258499.3	-	2	1598	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	USP44_ENST00000537435.2_Missense_Mutation_p.R437H|USP44_ENST00000552440.1_Missense_Mutation_p.R437H|USP44_ENST00000393091.2_Missense_Mutation_p.R437H	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	437					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						CTCTAATTCACGTTGTATTTT	0.393													T	95926723	C	T	95926723	3	4	318	1	0	0	0	0	1	0	0	0	17177	536	19	1	848	1	USP44	12	95926723	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	74599094	95926723	37925172	28	21370											
STAB2	55576	broad.mit.edu	37	chr12	104033987	104033987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtaaatcagataacccGtgtcataggaatgcaaattg	16	11	8	6	1	2	1	2	0	0	1	2	2	2	2	1	1	2	2	1	1	7	5			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:104033987G>A	ENST00000388887.2	+	9	1197	c.993G>A	c.(991-993)ccG>ccA	p.P331P		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	331	EGF-like 5.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGATAACCCGTGTCATAGGA	0.463													A	104033987	G	A	104033987	2	1	318	1	0	0	0	0	0	0	0	1	15334	1132	40	1		1	STAB2	12	104033987	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	8107264	104033987	29817908	29	21371											
FBXW8	26259	broad.mit.edu	37	chr12	117448196	117448196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgttctccgtgacttcacGtgtgtcaacctcagcgacag	9	10	9	13	4	4	1	3	1	1	0	5	2	4	1	2	0	3	1	2	0	2	2	rs146667375	byFrequency	TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr12:117448196G>A	ENST00000455858.2	+	8	1183	c.1110G>A	c.(1108-1110)acG>acA	p.T370T	FBXW8_ENST00000309909.5_Silent_p.T436T	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	436							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		GTGACTTCACGTGTGTCAACC	0.572													A	117448196	G	A	117448196	2	1	318	1	0	0	0	0	0	0	0	1	5819	1132	40	1		1	FBXW8	12	117448196	Silent	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	13414209	117448196	16403699	30	21372											
ATP11A	23250	broad.mit.edu	37	chr13	113487270	113487270	+	Frame_Shift_Del	DEL	G	G	-																															gccccaggaaatcgccggacGgggggaaatcctgtgtgtac																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr13:113487270delG	ENST00000487903.1	+	14	1580	c.1492delG	c.(1492-1494)gggfs	p.G499fs	ATP11A_ENST00000283558.8_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375645.3_Frame_Shift_Del_p.G499fs|ATP11A_ENST00000375630.2_Frame_Shift_Del_p.G499fs			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	499					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ATCGCCGGACGGGGGGAAATC	0.622													-	113487270	G	-	113487270	7	5	318	1	0	1	0	1	0	0	0	0	1124	1116	39	0	1546	0	ATP11A	13	113487270	Frame_Shift_Del	DEL	G	TCGA-DB-A4XD-01A-11D-A27K-08		113487270	1682608	31	21373											
GPX2	2877	broad.mit.edu	37	chr14	65409342	65409342	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagagcgaagccacatTctcaatcagcacggccctgc	10	6	9	16	2	3	1	3	0	1	1	4	2	3	1	3	1	4	1	3	1	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr14:65409342T>G	ENST00000389614.5	-	1	189	c.103A>C	c.(103-105)Aat>Cat	p.N35H	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	35					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GAAGCCACATTCTCAATCAGC	0.577													G	65409342	T	G	65409342	3	3	318	1	0	0	0	0	1	0	0	0	6795	1783	62	5	477	5	GPX2	14	65409342	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		65409342	41940198	32	21374											
MCTP2	55784	broad.mit.edu	37	chr15	94927307	94927307	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaccgacttcagacgcatAccgtctacaaaaacctcaac	15	7	5	14	3	3	2	2	1	1	1	3	3	3	2	3	0	4	1	3	0	5	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr15:94927307A>G	ENST00000357742.4	+	12	1639	c.1639A>G	c.(1639-1641)Acc>Gcc	p.T547A	MCTP2_ENST00000331706.4_Missense_Mutation_p.T135A|MCTP2_ENST00000557742.1_Missense_Mutation_p.T135A|MCTP2_ENST00000451018.3_Missense_Mutation_p.T547A	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	547	C2 3.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TCAGACGCATACCGTCTACAA	0.433													G	94927307	A	G	94927307	3	3	318	1	0	0	0	0	1	0	0	0	9476	391	14	3	1685	3	MCTP2	15	94927307	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		94927307	7604085	33	21375											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	318	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08		7578190	73617020	34	21376											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	10	6	12	13	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y|TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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 LFS; 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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			T	7578508	C	T	7578508	3	4	318	1	0	0	0	0	1	0	0	0	16482	710	25	2	876	2	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	318	7578508	73616702	35	21377											
FLOT2	2319	broad.mit.edu	37	chr17	27208913	27208913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcgatgagctccttgtccGtacgcaggatctcctgtgcc	6	11	11	13	3	1	1	0	1	1	0	4	3	3	2	4	1	4	3	4	1	2	3			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr17:27208913G>A	ENST00000394906.2	-	10	1075	c.998C>T	c.(997-999)aCg>aTg	p.T333M	FLOT2_ENST00000394908.4_Missense_Mutation_p.T278M|FLOT2_ENST00000585169.1_Missense_Mutation_p.T278M|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	278					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			CTCCTTGTCCGTACGCAGGAT	0.617													A	27208913	G	A	27208913	3	1	318	1	0	0	0	0	1	0	0	0	5986	1145	40	1	469	1	FLOT2	17	27208913	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	19630405	27208913	53986297	36	21378											
SF3A2	8175	broad.mit.edu	37	chr19	2247981	2247981	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagggcccccgggaccAccccagctacccccgccagc	6	2	9	24	2	1	0	1	0	0	0	1	1	1	1	9	2	3	1	9	2	1	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:2247981A>C	ENST00000221494.5	+	9	1249	c.831A>C	c.(829-831)ccA>ccC	p.P277P		NM_007165.4	NP_009096.2	Q15428	SF3A2_HUMAN	splicing factor 3a, subunit 2, 66kDa		Pro-rich.				nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex	nucleic acid binding|zinc ion binding			NS(1)|large_intestine(1)|lung(2)	4		Hepatocellular(1079;0.137)		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)		CCCCGGGACCACCCCAGCTAC	0.756													C	2247981	A	C	2247981	2	2	318	1	0	0	0	0	0	0	0	1	14240	146	6	5		5	SF3A2	19	2247981	Silent	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		2247981	56881002	37	21379											
ACSBG2	81616	broad.mit.edu	37	chr19	6187326	6187326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctggtggtgaaaatgtgCcccccattcctgttgagacc	7	11	11	12	0	0	2	0	2	0	1	1	3	1	2	5	2	2	2	5	2	2	2			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:6187326C>T	ENST00000588304.1	+	12	1869	c.1423C>T	c.(1423-1425)Ccc>Tcc	p.P475S	ACSBG2_ENST00000252669.5_Missense_Mutation_p.P525S|ACSBG2_ENST00000586696.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000591403.1_Missense_Mutation_p.P525S|ACSBG2_ENST00000591741.1_3'UTR|ACSBG2_ENST00000588485.1_Missense_Mutation_p.P338S			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	525					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGAAAATGTGCCCCCCATTCC	0.483													T	6187326	C	T	6187326	3	4	318	1	0	0	0	0	1	0	0	0	174	739	26	2	1615	2	ACSBG2	19	6187326	Missense_Mutation	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	3939345	6187326	52941657	38	21380											
MEGF8	1954	broad.mit.edu	37	chr19	42873066	42873066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggacgagtgtgcaaacGggcaccacgactgcaacgag	12	4	14	11	4	0	1	0	1	0	0	0	5	0	2	1	2	4	3	1	2	2	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:42873066G>A	ENST00000334370.4	+	36	6987	c.6352G>A	c.(6352-6354)Ggg>Agg	p.G2118R	MEGF8_ENST00000251268.6_Missense_Mutation_p.G2185R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2185	PSI 6.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GTGTGCAAACGGGCACCACGA	0.622													A	42873066	G	A	42873066	3	1	318	1	0	0	0	0	1	0	0	0	9538	1116	39	1	6494	1	MEGF8	19	42873066	Missense_Mutation	SNP	G	TCGA-DB-A4XD-01A-11D-A27K-08	36685740	42873066	16255917	39	21381											
NLRP12	91662	broad.mit.edu	37	chr19	54314482	54314482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacattcccctaggcgcgcaTtgcggtcttccatgagccgg	6	9	11	15	4	1	1	0	1	1	0	3	1	3	1	4	3	2	1	4	3	1	4			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:54314482T>A	ENST00000324134.6	-	3	599	c.431A>T	c.(430-432)aAt>aTt	p.N144I	NLRP12_ENST00000345770.5_Missense_Mutation_p.N144I|NLRP12_ENST00000391772.1_Missense_Mutation_p.N144I|NLRP12_ENST00000391775.3_Missense_Mutation_p.N144I|NLRP12_ENST00000391773.1_Missense_Mutation_p.N144I|NLRP12_ENST00000351894.4_Missense_Mutation_p.N144I|NLRP12_ENST00000535162.1_Missense_Mutation_p.N144I|NLRP12_ENST00000354278.3_Missense_Mutation_p.N144I	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	144					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		TAGGCGCGCATTGCGGTCTTC	0.567													A	54314482	T	A	54314482	3	1	318	1	0	0	0	0	1	0	0	0	10550	1493	52	5	2882	5	NLRP12	19	54314482	Missense_Mutation	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	11441416	54314482	4814501	40	21382											
FIZ1	84922	broad.mit.edu	37	chr19	56104856	56104856	+	Frame_Shift_Del	DEL	A	A	-																															cacattgcagcagacggagcAgggcgcactcaaggcgggca																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr19:56104856delA	ENST00000221665.3	-	3	540	c.451delT	c.(451-453)tgcfs	p.C151fs	FIZ1_ENST00000592585.1_3'UTR	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CAGACGGAGCAGGGCGCACTC	0.761													-	56104856	A	-	56104856	7	5	318	1	0	1	0	1	0	0	0	0	5949	188	7	0	1043	0	FIZ1	19	56104856	Frame_Shift_Del	DEL	A	TCGA-DB-A4XD-01A-11D-A27K-08	1790374	56104856	3024127	41	21383											
GAB4	128954	broad.mit.edu	37	chr22	17444666	17444666	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggatgttaccagtgctcctCggcggggctgaactgctggt	5	11	15	10	2	0	1	0	1	0	0	2	2	1	2	2	5	4	4	2	5	2	1			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chr22:17444666C>G	ENST00000400588.1	-	9	1637	c.1530G>C	c.(1528-1530)ccG>ccC	p.P510P		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	510										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				CAGTGCTCCTCGGCGGGGCTG	0.612													G	17444666	C	G	17444666	2	3	318	1	0	0	0	0	0	0	0	1	6203	871	31	4		4	GAB4	22	17444666	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08		17444666	33859900	42	21384											
USP9X	8239	broad.mit.edu	37	chrX	41084138	41084138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcagtaattcagaggaaAccgtcaaattgcttcgtttt	12	13	8	8	2	2	1	2	0	0	1	3	2	2	2	1	1	3	4	1	1	3	6			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:41084138A>G	ENST00000324545.8	+	40	7528	c.6895A>G	c.(6895-6897)Acc>Gcc	p.T2299A	USP9X_ENST00000378308.2_Missense_Mutation_p.T2299A	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTCAGAGGAAACCGTCAAATT	0.383													G	41084138	A	G	41084138	3	3	318	1	0	0	0	0	1	0	0	0	17192	43	2	3	7049	3	USP9X	23	41084138	Missense_Mutation	SNP	A	TCGA-DB-A4XD-01A-11D-A27K-08		41084138	114186422	43	21385											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814306	ATAA	-	76814303	7	5	318	1	0	1	0	1	0	0	0	0	1213	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DB-A4XD-01A-11D-A27K-08	35730165	76814303	78456257	44	21386											
ATRX	546	broad.mit.edu	37	chrX	76909677	76909680	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															ctgattttcttccaactctgCtttctttgcagacctgacga																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76909677_76909680delCTTT	ENST00000373344.5	-	14	4439_4442	c.4225_4228delAAAG	c.(4225-4230)aaagcafs	p.KA1409fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KA1371fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1409					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)	TCCAACTCTGCTTTCTTTGCAGAC	0.319			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76909680	CTTT	-	76909677	7	5	318	1	0	1	0	1	0	0	0	0	1213	797	28	0	3338	0	ATRX	23	76909677	Frame_Shift_Del	DEL	CTTT	TCGA-DB-A4XD-01A-11D-A27K-08	95374	76909677	78360883	45	21387											
ATRX	546	broad.mit.edu	37	chrX	76937770	76937770	+	Frame_Shift_Del	DEL	T	T	-																															tcttaaagtctgaaggtttcTttttttcttcagttcccttt																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76937770delT	ENST00000373344.5	-	9	3192	c.2978delA	c.(2977-2979)aagfs	p.K994fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K956fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	994					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)	TGAAGGTTTCTTTTTTTCTTC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937770	T	-	76937770	7	5	318	1	0	1	0	1	0	0	0	0	1213	1609	56	0	4608	0	ATRX	23	76937770	Frame_Shift_Del	DEL	T	TCGA-DB-A4XD-01A-11D-A27K-08	28093	76937770	78332790	46	21388											
ATRX	546	broad.mit.edu	37	chrX	76940500	76940500	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatacttaaagcaattcTattaaaagaaaagaggaagg	20	10	8	3	0	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	11	6			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:76940500T>C	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AAAGCAATTCTATTAAAAGAA	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76940500	T	C	76940500	5	2	318	1	0	0	0	0	0	0	1	0	1213	1536	53	3	6997	3	ATRX	23	76940500	Splice_Site	SNP	T	TCGA-DB-A4XD-01A-11D-A27K-08	2730	76940500	78330060	47	21389											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977803	-	C	107977802	7	5	318	1	0	1	1	0	0	0	0	0	7900	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-DB-A4XD-01A-11D-A27K-08	31037302	107977802	47292758	48	21390											
ATP2B3	492	broad.mit.edu	37	chrX	152813393	152813393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagaaagccaacgcaccCaaaaaggagaagtctgtcct	18	4	9	10	1	1	3	0	0	1	3	2	4	2	3	3	1	2	1	3	1	7	0			TCGA-DB-A4XD-01A-11D-A27K-08	TCGA-DB-A4XD-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9d4f9d8-787d-41b0-8f45-e9858ef6b281	0df99eaa-b248-47fe-a233-e9ed0f34d70a	g.chrX:152813393C>T	ENST00000370186.1	+	7	1343	c.1017C>T	c.(1015-1017)ccC>ccT	p.P339P	ATP2B3_ENST00000359149.3_Silent_p.P353P|ATP2B3_ENST00000370181.2_Silent_p.P339P|ATP2B3_ENST00000393842.1_Silent_p.P339P|ATP2B3_ENST00000263519.4_Silent_p.P353P|ATP2B3_ENST00000349466.2_Silent_p.P353P			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	353					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAACGCACCCAAAAAGGAGA	0.592													T	152813393	C	T	152813393	2	4	318	1	0	0	0	0	0	0	0	1	1146	581	21	2		2	ATP2B3	23	152813393	Silent	SNP	C	TCGA-DB-A4XD-01A-11D-A27K-08	44835591	152813393	2457167	49	21391											
RNF186	54546	broad.mit.edu	37	chr1	20141126	20141126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcaggagtaggtgcgCggccaggcgccgggctgcca	6	3	19	13	4	0	0	0	0	0	0	0	1	0	1	4	6	3	3	4	6	1	1	rs41264109		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:20141126C>T	ENST00000375121.2	-	1	645	c.469G>A	c.(469-471)Gcg>Acg	p.A157T	RP11-91K11.2_ENST00000454736.1_RNA	NM_019062.1	NP_061935.1	Q9NXI6	RN186_HUMAN	ring finger protein 186	157						integral to membrane	zinc ion binding			kidney(1)|lung(3)|urinary_tract(1)	5		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00459)|Lung NSC(340;0.00475)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;7.77e-05)|Kidney(64;0.000162)|GBM - Glioblastoma multiforme(114;0.00036)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGTAGGTGCGCGGCCAGGCGC	0.612													T	20141126	C	T	20141126	3	4	319	1	0	0	0	0	1	0	0	0	13560	768	27	1	218	1	RNF186	1	20141126	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		20141126	229109495	1	21392											
HIPK1	204851	broad.mit.edu	37	chr1	114510515	114510515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgttgtcagacaacaaCaatccagttccctcccttcg	10	10	5	16	1	1	1	1	0	0	1	5	1	4	1	4	0	2	2	4	0	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:114510515C>A	ENST00000369558.1	+	12	2741	c.2509C>A	c.(2509-2511)Caa>Aaa	p.Q837K	HIPK1_ENST00000369553.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000406344.1_Missense_Mutation_p.Q443K|HIPK1_ENST00000369561.4_Missense_Mutation_p.Q803K|HIPK1_ENST00000426820.2_Missense_Mutation_p.Q837K|HIPK1_ENST00000369559.4_Missense_Mutation_p.Q837K|HIPK1_ENST00000369554.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000369555.2_Missense_Mutation_p.Q792K|HIPK1_ENST00000340480.4_Missense_Mutation_p.Q463K			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGACAACAACAATCCAGTTC	0.478													A	114510515	C	A	114510515	3	1	319	1	0	0	0	0	1	0	0	0	7171	479	17	4	2569	4	HIPK1	1	114510515	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	94369389	114510515	134740106	2	21393											
PIK3C2B	5287	broad.mit.edu	37	chr1	204425080	204425080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggaccaggtcatgcttgCggctcccgggcactgccgtc	4	8	13	16	3	1	0	1	0	0	0	3	1	2	1	4	4	3	3	4	4	0	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:204425080C>T	ENST00000367187.3	-	12	2403	c.1847G>A	c.(1846-1848)cGc>cAc	p.R616H	PIK3C2B_ENST00000496872.1_5'UTR|PIK3C2B_ENST00000424712.2_Missense_Mutation_p.R616H	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	616					cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTCATGCTTGCGGCTCCCGGG	0.612													T	204425080	C	T	204425080	3	4	319	1	0	0	0	0	1	0	0	0	11987	768	27	1	3149	1	PIK3C2B	1	204425080	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	89914565	204425080	44825541	3	21394											
ABCB10	23456	broad.mit.edu	37	chr1	229683292	229683292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccggccctgagcccaTctgagaggttttcagtcact	6	9	12	14	1	3	2	2	2	1	1	3	3	3	2	4	3	1	1	4	3	0	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr1:229683292T>C	ENST00000344517.4	-	3	917	c.875A>G	c.(874-876)gAt>gGt	p.D292G		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	292	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CCTGAGCCCATCTGAGAGGTT	0.567													C	229683292	T	C	229683292	3	2	319	1	0	0	0	0	1	0	0	0	41	1435	50	3	1385	3	ABCB10	1	229683292	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	25258212	229683292	19567329	4	21395											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	319	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		209113112	34086261	5	21396											
FYCO1	79443	broad.mit.edu	37	chr3	46009087	46009087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccccaggcctcttgcagaCtggagttcacagggaccagg	8	7	12	14	0	2	1	1	0	1	1	3	3	3	3	4	4	1	2	4	4	0	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:46009087C>T	ENST00000296137.2	-	8	1944	c.1739G>A	c.(1738-1740)aGt>aAt	p.S580N	FYCO1_ENST00000535325.1_Missense_Mutation_p.S580N	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	580					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTCTTGCAGACTGGAGTTCAC	0.632													T	46009087	C	T	46009087	3	4	319	1	0	0	0	0	1	0	0	0	6177	565	20	2	2741	2	FYCO1	3	46009087	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		46009087	152013343	6	21397											
ROBO2	6092	broad.mit.edu	37	chr3	77617553	77617553	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcataatccagttgtgCtgactcccaccacggttcag	8	12	8	13	1	3	1	2	1	1	0	5	1	5	1	3	1	1	3	3	1	1	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:77617553C>T	ENST00000461745.1	+	13	2839	c.1939C>T	c.(1939-1941)Ctg>Ttg	p.L647L	ROBO2_ENST00000487694.3_Silent_p.L663L|ROBO2_ENST00000332191.8_Silent_p.L647L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	647	Fibronectin type-III 2.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		TCCAGTTGTGCTGACTCCCAC	0.468													T	77617553	C	T	77617553	2	4	319	1	0	0	0	0	0	0	0	1	13605	796	28	2		2	ROBO2	3	77617553	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	31608466	77617553	120404877	7	21398											
ARHGAP31	57514	broad.mit.edu	37	chr3	119132892	119132892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcttgccttgtggcTccttccctgctccagtctcc	2	13	10	16	0	1	0	0	0	1	0	5	1	4	1	5	2	3	3	5	2	0	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr3:119132892T>G	ENST00000264245.4	+	12	2648	c.2116T>G	c.(2116-2118)Tcc>Gcc	p.S706A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	706	Pro-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GCCTTGTGGCTCCTTCCCTGC	0.602													G	119132892	T	G	119132892	3	3	319	1	0	0	0	0	1	0	0	0	883	1551	54	5	2162	5	ARHGAP31	3	119132892	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	41515339	119132892	78889538	8	21399											
GPRIN3	285513	broad.mit.edu	37	chr4	90170303	90170303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgccactgcctgcacctccGcatcttgccaagccctgctg	5	9	8	19	2	1	0	0	0	1	0	3	0	2	0	6	0	5	3	6	0	1	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr4:90170303G>A	ENST00000609438.1	-	2	1477	c.959C>T	c.(958-960)gCg>gTg	p.A320V	GPRIN3_ENST00000333209.4_Missense_Mutation_p.A320V	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3									p.A320V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CTGCACCTCCGCATCTTGCCA	0.537													A	90170303	G	A	90170303	3	1	319	1	0	0	0	0	1	0	0	0	6786	1087	38	1	1375	1	GPRIN3	4	90170303	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		90170303	100983973	9	21400											
F2RL1	2150	broad.mit.edu	37	chr5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctttgccgaagtgtccGcactgtaaagcagatgcaag	10	10	10	11	2	1	1	0	0	1	1	3	2	2	1	3	0	3	4	3	0	4	2	rs149001132		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448													A	76129526	G	A	76129526	3	1	319	1	0	0	0	0	1	0	0	0	5386	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		76129526	104785734	10	21401											
GABRA6	2559	broad.mit.edu	37	chr5	161119014	161119014	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctttgccaaaagtgtcAtatgccactgccatggattg	10	12	8	11	0	2	0	1	0	1	0	2	1	2	1	3	1	3	0	3	1	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:161119014A>T	ENST00000523217.1	+	8	1106	c.864A>T	c.(862-864)tcA>tcT	p.S288S	GABRA6_ENST00000274545.5_Silent_p.S298S	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	298					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CAAAAGTGTCATATGCCACTG	0.408										TCGA Ovarian(5;0.080)			T	161119014	A	T	161119014	2	4	319	1	0	0	0	0	0	0	0	1	6217	204	8	5		5	GABRA6	5	161119014	Silent	SNP	A	TCGA-DB-A4XE-01A-11D-A27K-08	84989488	161119014	19796246	11	21402											
PDLIM7	9260	broad.mit.edu	37	chr5	176918075	176918075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggcctgtccccggccgCggccgccagtcctctgtgtt	2	9	13	17	4	1	0	0	0	1	0	3	1	3	0	7	3	0	1	7	3	0	1	rs145886743		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr5:176918075C>T	ENST00000355841.2	-	6	537	c.471G>A	c.(469-471)ccG>ccA	p.P157P	PDLIM7_ENST00000393551.1_Silent_p.P157P|PDLIM7_ENST00000355572.2_Silent_p.P157P|PDLIM7_ENST00000359895.2_Silent_p.P123P|PDLIM7_ENST00000356618.4_Silent_p.P157P	NM_005451.3	NP_005442.2	Q9NR12	PDLI7_HUMAN	PDZ and LIM domain 7 (enigma)	157					cell differentiation|multicellular organismal development|ossification|receptor-mediated endocytosis	cytoplasm|focal adhesion	protein binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	10	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCCCGGCCGCGGCCGCCAGT	0.667													T	176918075	C	T	176918075	2	4	319	1	0	0	0	0	0	0	0	1	11760	755	27	1		1	PDLIM7	5	176918075	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	15799061	176918075	3997185	12	21403											
GLI3	2737	broad.mit.edu	37	chr7	42007295	42007295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcctttctagttttacgTgctccatccatttggtccct	5	18	6	12	1	1	0	0	0	1	0	4	0	4	0	4	1	3	2	4	1	3	6			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:42007295T>C	ENST00000395925.3	-	14	2414	c.2330A>G	c.(2329-2331)cAc>cGc	p.H777R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	777					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TAGTTTTACGTGCTCCATCCA	0.498									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				C	42007295	T	C	42007295	3	2	319	1	0	0	0	0	1	0	0	0	6495	1696	59	3	2420	3	GLI3	7	42007295	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		42007295	117131368	13	21404											
GNB2	2783	broad.mit.edu	37	chr7	100276231	100276231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgccatgaagggcgacCgtgcaggtgacagctggggc	8	5	19	9	2	0	2	0	2	0	0	0	4	0	3	2	5	3	2	2	5	1	0			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr7:100276231C>A	ENST00000303210.4	+	9	1392	c.910C>A	c.(910-912)Cgt>Agt	p.R304S	GNB2_ENST00000436220.1_Missense_Mutation_p.R260S|GNB2_ENST00000393924.1_Missense_Mutation_p.R304S|GNB2_ENST00000393926.1_Missense_Mutation_p.R304S|GNB2_ENST00000419828.1_Missense_Mutation_p.R204S|GNB2_ENST00000424361.1_Missense_Mutation_p.R260S|GNB2_ENST00000427895.1_Missense_Mutation_p.R204S	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	304					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				GAAGGGCGACCGTGCAGGTGA	0.632													A	100276231	C	A	100276231	3	1	319	1	0	0	0	0	1	0	0	0	6573	652	23	4	940	4	GNB2	7	100276231	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	58268936	100276231	58862432	14	21405											
SLC7A2	6542	broad.mit.edu	37	chr8	17409358	17409358	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatggcctattttggggtCtctgcagctttaacacttat	7	18	8	8	0	1	0	0	0	1	0	2	0	1	0	1	3	3	2	1	3	4	8			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:17409358C>A	ENST00000470360.1	+	8	1155	c.1038C>A	c.(1036-1038)gtC>gtA	p.V346V	SLC7A2_ENST00000494857.1_Silent_p.V306V|SLC7A2_ENST00000004531.10_Silent_p.V346V|SLC7A2_ENST00000398090.3_Silent_p.V346V|SLC7A2_ENST00000522656.1_Silent_p.V306V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	306					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	ATTTTGGGGTCTCTGCAGCTT	0.438													A	17409358	C	A	17409358	2	1	319	1	0	0	0	0	0	0	0	1	14791	900	32	4		4	SLC7A2	8	17409358	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		17409358	128954664	15	21406											
GDAP1	54332	broad.mit.edu	37	chr8	75272416	75272416	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaagaaagcatgtattacCcacgggtacaacattaccga	17	8	7	9	2	0	1	0	0	0	1	0	2	0	1	2	1	5	3	2	1	8	5			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:75272416C>G	ENST00000220822.7	+	3	435	c.355C>G	c.(355-357)Cca>Gca	p.P119A	GDAP1_ENST00000521096.1_3'UTR|GDAP1_ENST00000434412.2_Missense_Mutation_p.P51A	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	119						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			CATGTATTACCCACGGGTACA	0.403													G	75272416	C	G	75272416	3	3	319	1	0	0	0	0	1	0	0	0	6362	623	22	4	365	4	GDAP1	8	75272416	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	57863058	75272416	71091606	16	21407											
ZNF707	286075	broad.mit.edu	37	chr8	144776021	144776021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacagacgccaagcccaCggctttcccgtgtcaggtgc	9	6	12	14	3	1	1	1	0	0	1	2	2	2	2	3	3	2	1	3	3	2	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr8:144776021C>T	ENST00000532205.1	+	8	1336	c.437C>T	c.(436-438)aCg>aTg	p.T146M	ZNF707_ENST00000358656.4_Missense_Mutation_p.T146M|ZNF707_ENST00000532158.1_Missense_Mutation_p.T146M|ZNF707_ENST00000418203.2_Missense_Mutation_p.T146M|ZNF707_ENST00000454097.1_Missense_Mutation_p.T146M			Q96C28	ZN707_HUMAN	zinc finger protein 707	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCAAGCCCACGGCTTTCCCG	0.647													T	144776021	C	T	144776021	3	4	319	1	0	0	0	0	1	0	0	0	18212	536	19	1	451	1	ZNF707	8	144776021	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	69503605	144776021	1588001	17	21408											
SPAG8	26206	broad.mit.edu	37	chr9	35811217	35811217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggaggcactggccccgcgGcaaagtttcatagcaaacca	12	5	12	12	2	1	0	1	0	0	0	1	2	1	1	3	4	2	4	3	4	3	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr9:35811217G>A	ENST00000340291.2	-	2	950	c.826C>T	c.(826-828)Ccg>Tcg	p.P276S	SPAG8_ENST00000479751.1_5'UTR|SPAG8_ENST00000484764.1_Missense_Mutation_p.P274S|SPAG8_ENST00000396638.2_Missense_Mutation_p.P276S	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	276						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGGCCCCGCGGCAAAGTTTCA	0.507													A	35811217	G	A	35811217	3	1	319	1	0	0	0	0	1	0	0	0	15080	1203	42	2	906	2	SPAG8	9	35811217	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		35811217	105402214	18	21409											
MAPK8	5599	broad.mit.edu	37	chr10	49618135	49618135	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcagatggagctagatcAtgaaagaatgtcctaccttc	13	11	9	8	0	2	4	2	1	0	3	4	6	3	5	2	1	2	1	2	1	4	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:49618135A>G	ENST00000374189.1	+	5	555	c.374A>G	c.(373-375)cAt>cGt	p.H125R	MAPK8_ENST00000360332.3_Missense_Mutation_p.H125R|MAPK8_ENST00000395611.3_Missense_Mutation_p.H125R|MAPK8_ENST00000374182.3_Missense_Mutation_p.H125R|MAPK8_ENST00000374174.1_Missense_Mutation_p.H125R			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	125	Protein kinase.				activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		GAGCTAGATCATGAAAGAATG	0.398													G	49618135	A	G	49618135	3	3	319	1	0	0	0	0	1	0	0	0	9358	217	8	3	388	3	MAPK8	10	49618135	Missense_Mutation	SNP	A	TCGA-DB-A4XE-01A-11D-A27K-08		49618135	85916612	19	21410											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118357417	118357417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgatgctgactttgttGatgtgattcacacggatgca	8	14	10	9	1	2	4	1	4	1	0	2	5	2	5	1	1	2	3	1	1	0	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr10:118357417G>T	ENST00000528052.1	+	7	723	c.652G>T	c.(652-654)Gat>Tat	p.D218Y	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.D218Y|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.D218Y			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	218					lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TGACTTTGTTGATGTGATTCA	0.483													T	118357417	G	T	118357417	3	4	319	1	0	0	0	0	1	0	0	0	12227	1290	45	4	674	4	PNLIPRP1	10	118357417	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	68739282	118357417	17177330	20	21411											
MARK2	2011	broad.mit.edu	37	chr11	63672397	63672397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggcagctccgacaggtgCgggaccagcagaatttgccc	8	6	14	13	2	0	1	0	0	0	1	1	3	1	2	3	3	4	3	3	3	1	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:63672397C>T	ENST00000402010.2	+	16	2395	c.1816C>T	c.(1816-1818)Cgg>Tgg	p.R606W	MARK2_ENST00000502399.3_Missense_Mutation_p.R605W|MARK2_ENST00000509502.2_Missense_Mutation_p.R572W|MARK2_ENST00000315032.8_Missense_Mutation_p.R606W|MARK2_ENST00000513765.2_Missense_Mutation_p.R573W|MARK2_ENST00000408948.3_Missense_Mutation_p.R518W|MARK2_ENST00000413835.2_Missense_Mutation_p.R552W|MARK2_ENST00000361128.5_Missense_Mutation_p.R552W|MARK2_ENST00000508192.1_Missense_Mutation_p.R551W|MARK2_ENST00000425897.2_Missense_Mutation_p.R526W|MARK2_ENST00000377810.3_Missense_Mutation_p.R518W|MARK2_ENST00000350490.7_Missense_Mutation_p.R551W|MARK2_ENST00000377809.4_Missense_Mutation_p.R606W	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	606					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			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						CCGACAGGTGCGGGACCAGCA	0.647													T	63672397	C	T	63672397	3	4	319	1	0	0	0	0	1	0	0	0	9388	759	27	1	1878	1	MARK2	11	63672397	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		63672397	71334119	21	21412											
MAML2	84441	broad.mit.edu	37	chr11	95724824	95724824	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtaaccacttccagtgtttgGatttgagcaggggttaggac	9	12	13	7	0	0	1	0	1	0	0	1	3	1	3	2	4	2	4	2	4	2	5			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr11:95724824G>C	ENST00000524717.1	-	3	3487	c.2203C>G	c.(2203-2205)Cca>Gca	p.P735A		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	735					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				CCAGTGTTTGGATTTGAGCAG	0.478			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								C	95724824	G	C	95724824	3	2	319	1	0	0	0	0	1	0	0	0	9281	1174	41	4	1279	4	MAML2	11	95724824	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	32052427	95724824	39281692	22	21413											
LRP6	4040	broad.mit.edu	37	chr12	12291381	12291381	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaatcatttgctgctgtTtatcaatccaatagagccag	11	15	6	9	0	3	1	3	0	0	1	4	1	4	1	2	0	3	3	2	0	5	5			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr12:12291381T>A	ENST00000261349.4	-	16	3561	c.3485A>T	c.(3484-3486)aAa>aTa	p.K1162I	LRP6_ENST00000543091.1_Missense_Mutation_p.K1162I|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1162	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGCTGCTGTTTATCAATCCA	0.423													A	12291381	T	A	12291381	3	1	319	1	0	0	0	0	1	0	0	0	9032	1841	64	5	1388	5	LRP6	12	12291381	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		12291381	121560514	23	21414											
TUBA3C	7278	broad.mit.edu	37	chr13	19752464	19752464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggcgtaattattggcCgcatcttccttcccggtgat	5	14	9	13	3	2	1	0	1	2	0	4	1	4	1	4	3	0	2	4	3	2	5	rs142499533		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr13:19752464C>T	ENST00000400113.3	-	3	401	c.297G>A	c.(295-297)gcG>gcA	p.A99A		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	99					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		AATTATTGGCCGCATCTTCCT	0.522													T	19752464	C	T	19752464	2	4	319	1	0	0	0	0	0	0	0	1	16848	639	23	1		1	TUBA3C	13	19752464	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		19752464	95417414	24	21415											
TDP1	55775	broad.mit.edu	37	chr14	90455299	90455299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgcagagtcctggcctgtCgtaggtcagttttcaagcgt	8	11	12	10	3	2	1	2	0	0	1	4	1	3	1	2	2	2	3	2	2	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr14:90455299C>T	ENST00000335725.4	+	11	1432	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	TDP1_ENST00000393454.2_Silent_p.V394V|TDP1_ENST00000393452.3_Silent_p.V394V|TDP1_ENST00000555880.1_Silent_p.V394V|TDP1_ENST00000357382.3_Silent_p.V155V	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	394					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CCTGGCCTGTCGTAGGTCAGT	0.448								Repair of DNA-protein crosslinks					T	90455299	C	T	90455299	2	4	319	1	0	0	0	0	0	0	0	1	15828	871	31	1		1	TDP1	14	90455299	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		90455299	16894241	25	21416											
RPS2	6187	broad.mit.edu	37	chr16	2014319	2014319	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagatctcctccagggacttGatcttcatgtccttgaccaa	9	13	7	12	0	3	3	1	2	2	1	6	4	5	4	4	1	0	0	4	1	2	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:2014319G>C	ENST00000343262.4	-	3	281	c.225C>G	c.(223-225)atC>atG	p.I75M	RPS2_ENST00000526522.1_Missense_Mutation_p.I75M|RPS2_ENST00000529806.1_Intron|RPS2_ENST00000530225.1_Missense_Mutation_p.I75M	NM_002952.3	NP_002943.2	P15880	RS2_HUMAN	ribosomal protein S2	75					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						CCAGGGACTTGATCTTCATGT	0.602													C	2014319	G	C	2014319	3	2	319	1	0	0	0	0	1	0	0	0	13722	1280	45	4	676	4	RPS2	16	2014319	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		2014319	88340434	26	21417											
C16orf45	89927	broad.mit.edu	37	chr16	15661873	15661873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgcaaggacatcatGgacttgaagcaggagctgca	12	7	12	10	0	2	1	1	1	1	0	2	4	2	4	0	3	5	5	0	3	2	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:15661873G>A	ENST00000300006.4	+	3	623	c.264G>A	c.(262-264)atG>atA	p.M88I	C16orf45_ENST00000561692.1_Missense_Mutation_p.M40I|C16orf45_ENST00000566490.1_Missense_Mutation_p.M88I|C16orf45_ENST00000452191.2_Missense_Mutation_p.M71I	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	88										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						AGGACATCATGGACTTGAAGC	0.557													A	15661873	G	A	15661873	3	1	319	1	0	0	0	0	1	0	0	0	1828	1348	47	2	333	2	C16orf45	16	15661873	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	13647554	15661873	74692880	27	21418											
IL27	246778	broad.mit.edu	37	chr16	28510981	28510981	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagccaccgatcagggctgGgggctcaatgttgggaaccc	9	6	15	11	1	2	0	2	0	0	0	2	3	2	1	3	4	2	3	3	4	3	1			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr16:28510981G>A	ENST00000356897.1	-	5	745	c.723C>T	c.(721-723)ccC>ccT	p.P241P		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	241					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATCAGGGCTGGGGGCTCAATG	0.607													A	28510981	G	A	28510981	2	1	319	1	0	0	0	0	0	0	0	1	7738	1219	43	2		2	IL27	16	28510981	Silent	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	12849108	28510981	61843772	28	21419											
SGSM2	9905	broad.mit.edu	37	chr17	2282481	2282481	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggacttcactgacatCatcaagtttttcaatggtac	13	13	6	9	0	4	1	4	1	0	0	4	2	4	2	0	2	2	2	0	2	4	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:2282481C>A	ENST00000268989.3	+	23	3228	c.3051C>A	c.(3049-3051)atC>atA	p.I1017I	SGSM2_ENST00000426855.2_Silent_p.I972I|SGSM2_ENST00000574563.1_Silent_p.I972I|RP1-59D14.5_ENST00000574290.1_RNA	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	972						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		TCACTGACATCATCAAGTTTT	0.582													A	2282481	C	A	2282481	2	1	319	1	0	0	0	0	0	0	0	1	14316	816	29	4		4	SGSM2	17	2282481	Silent	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08		2282481	78912729	29	21420											
TP53	7157	broad.mit.edu	37	chr17	7577559	7577559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttcatgccgcccatgcagGaactgttacacatgtagttg	9	11	11	10	1	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	4	rs28934573		TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7577559G>T	ENST00000420246.2	-	7	854	c.722C>A	c.(721-723)tCc>tAc	p.S241Y	TP53_ENST00000413465.2_Missense_Mutation_p.S241Y|TP53_ENST00000455263.2_Missense_Mutation_p.S241Y|TP53_ENST00000359597.4_Missense_Mutation_p.S241Y|TP53_ENST00000445888.2_Missense_Mutation_p.S241Y|TP53_ENST00000269305.4_Missense_Mutation_p.S241Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	241	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		S -> A (in sporadic cancers; somatic mutation).|S -> C (in sporadic cancers; somatic mutation).|S -> F (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934573).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in LFS; germline mutation and in sporadic cancers; somatic mutation).|S -> Y (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.S241F(85)|p.S241C(26)|p.0?(8)|p.S241Y(8)|p.C242fs*5(6)|p.?(5)|p.S241del(5)|p.S148F(4)|p.N239_C242delNSSC(3)|p.N239_C242>S(1)|p.C238fs*21(1)|p.S241fs*22(1)|p.N239_C242del(1)|p.Y236_M243delYMCNSSCM(1)|p.S241_G245delSCMGG(1)|p.S148C(1)|p.N239fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(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)		GCCCATGCAGGAACTGTTACA	0.572		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)			T	7577559	G	T	7577559	3	4	319	1	0	0	0	0	1	0	0	0	16482	1174	41	4	568	4	TP53	17	7577559	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	5295078	7577559	73617651	30	21421											
TP53	7157	broad.mit.edu	37	chr17	7579592	7579592	+	Splice_Site	DEL	T	T	-																															cttgggacggcaagggggacTgtagatgggtgaaaagagca																										TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:7579592delT	ENST00000420246.2	-	4	229		c.e4-2		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(15)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CAAGGGGGACTGTAGATGGGT	0.597		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)			-	7579592	T	-	7579592	8	5	319	1	0	1	0	1	0	0	1	0	16482	1594	55	0	1207	0	TP53	17	7579592	Splice_Site	DEL	T	TCGA-DB-A4XE-01A-11D-A27K-08	2033	7579592	73615618	31	21422											
BZRAP1	9256	broad.mit.edu	37	chr17	56393488	56393488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgggaccctcaaaggggTtgtagctgttaggggaggca	9	9	16	7	0	1	0	1	0	0	0	1	2	1	2	1	6	1	5	1	6	3	4			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr17:56393488T>C	ENST00000355701.3	-	16	2864	c.1994A>G	c.(1993-1995)aAc>aGc	p.N665S	BZRAP1_ENST00000343736.4_Missense_Mutation_p.N665S|BZRAP1_ENST00000268893.6_Missense_Mutation_p.N605S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	665	SH3 1.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTCAAAGGGGTTGTAGCTGTT	0.522													C	56393488	T	C	56393488	3	2	319	1	0	0	0	0	1	0	0	0	1587	1725	60	3	3643	3	BZRAP1	17	56393488	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	48813896	56393488	24801722	32	21423											
EMILIN2	84034	broad.mit.edu	37	chr18	2891077	2891077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaactctaccaagcctatGtggacagtaagatcgacgcc	13	7	9	12	3	1	1	0	0	1	1	2	4	1	2	3	1	3	1	3	1	5	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:2891077G>A	ENST00000254528.3	+	4	1111	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	318					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		CCAAGCCTATGTGGACAGTAA	0.547													A	2891077	G	A	2891077	3	1	319	1	0	0	0	0	1	0	0	0	5135	1377	48	2	966	2	EMILIN2	18	2891077	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		2891077	75186171	33	21424											
TTR	7276	broad.mit.edu	37	chr18	29172888	29172888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatccaagtgtcctctgatGgtcaaagttctagatgctgt	10	13	10	8	0	3	2	1	1	2	1	5	3	5	2	2	1	1	2	2	1	4	2			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr18:29172888G>A	ENST00000237014.3	+	2	276	c.99G>A	c.(97-99)atG>atA	p.M33I		NM_000371.3	NP_000362.1	P02766	TTHY_HUMAN	transthyretin	33			M -> I.		transport	cytoplasm	hormone activity			cervix(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	13			OV - Ovarian serous cystadenocarcinoma(10;0.00523)		Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Diflunisal(DB00861)|Dimethyl sulfoxide(DB01093)|Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCCTCTGATGGTCAAAGTTC	0.483													A	29172888	G	A	29172888	3	1	319	1	0	0	0	0	1	0	0	0	16840	1348	47	2	105	2	TTR	18	29172888	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	26281811	29172888	48904360	34	21425											
ZNF99	7652	broad.mit.edu	37	chr19	22939882	22939882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattagcttatgtttcttaaGggttgaggaattgttaaaag	13	16	10	2	0	1	1	0	1	1	0	1	2	1	2	0	2	1	4	0	2	7	7			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:22939882G>A	ENST00000397104.3	-	6	2448	c.2449C>T	c.(2449-2451)Ctt>Ttt	p.L817F						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGTTTCTTAAGGGTTGAGGAA	0.383													A	22939882	G	A	22939882	3	1	319	1	0	0	0	0	1	0	0	0	18303	1000	35	2	671	2	ZNF99	19	22939882	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08		22939882	36189101	35	21426											
ZNF600	162966	broad.mit.edu	37	chr19	53269553	53269553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaattctagtatgttttgCcagataggaatgacacgcaa	14	12	9	6	1	1	3	0	2	1	1	1	4	1	4	1	1	1	3	1	1	6	6			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chr19:53269553C>T	ENST00000338230.3	-	3	1723	c.1456G>A	c.(1456-1458)Gca>Aca	p.A486T		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.A486S(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		GTATGTTTTGCCAGATAGGAA	0.428													T	53269553	C	T	53269553	3	4	319	1	0	0	0	0	1	0	0	0	18131	739	26	2	716	2	ZNF600	19	53269553	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	30329671	53269553	5859430	36	21427											
NLGN3	54413	broad.mit.edu	37	chrX	70367670	70367670	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcaggagcctgtgccTcaccctgtggttcctcagtt	4	12	13	12	0	2	0	2	0	0	0	3	1	3	1	4	4	2	4	4	4	0	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:70367670T>A	ENST00000374051.3	+	2	393	c.71T>A	c.(70-72)cTc>cAc	p.L24H	NLGN3_ENST00000358741.3_Missense_Mutation_p.L24H|NLGN3_ENST00000536169.1_Missense_Mutation_p.L24H	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	24					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					AGCCTGTGCCTCACCCTGTGG	0.662													A	70367670	T	A	70367670	3	1	319	1	0	0	0	0	1	0	0	0	10539	1551	54	5	73	5	NLGN3	23	70367670	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08		70367670	84902890	37	21428											
ATRX	546	broad.mit.edu	37	chrX	76944338	76944339	+	Frame_Shift_Del	DEL	GT	GT	-																															ataagaacttgcaatgaaggGtgtctataaatggaatcttt																										TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:76944338_76944339delGT	ENST00000373344.5	-	7	780_781	c.566_567delAC	c.(565-567)cacfs	p.H189fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.H151fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	189	ADD.		Missing (in ATRX).		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)	GCAATGAAGGGTGTCTATAAAT	0.391			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76944339	GT	-	76944338	7	5	319	1	0	1	0	1	0	0	0	0	1213	1252	44	0	7027	0	ATRX	23	76944338	Frame_Shift_Del	DEL	GT	TCGA-DB-A4XE-01A-11D-A27K-08	6576668	76944338	78326222	38	21429											
NRK	203447	broad.mit.edu	37	chrX	105178375	105178375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcagatttttctgccaaTcactcatctccttccaaagg	11	13	4	13	0	5	1	3	0	2	1	7	1	6	1	3	1	1	0	3	1	3	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:105178375T>A	ENST00000428173.2	+	20	3744	c.3441T>A	c.(3439-3441)aaT>aaA	p.N1147K	NRK_ENST00000243300.9_Missense_Mutation_p.N1146K			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1146							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						TTTCTGCCAATCACTCATCTC	0.433										HNSCC(51;0.14)			A	105178375	T	A	105178375	3	1	319	1	0	0	0	0	1	0	0	0	10731	1432	50	5	3516	5	NRK	23	105178375	Missense_Mutation	SNP	T	TCGA-DB-A4XE-01A-11D-A27K-08	28234037	105178375	50092185	39	21430											
IDS	3423	broad.mit.edu	37	chrX	148568542	148568542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggaagtgaagccgtccttCcaggaacatagaatatcagg	13	7	11	10	2	1	2	1	1	0	1	3	4	3	4	4	3	2	0	4	3	6	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:148568542C>T	ENST00000340855.6	-	8	1303	c.1094G>A	c.(1093-1095)gGa>gAa	p.G365E	IDS_ENST00000422081.2_Missense_Mutation_p.G154E|IDS_ENST00000537071.1_Intron|IDS_ENST00000541269.1_Missense_Mutation_p.G154E	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	365						lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGCCGTCCTTCCAGGAACATA	0.473													T	148568542	C	T	148568542	3	4	319	1	0	0	0	0	1	0	0	0	7561	855	30	2	566	2	IDS	23	148568542	Missense_Mutation	SNP	C	TCGA-DB-A4XE-01A-11D-A27K-08	43390167	148568542	6702018	40	21431											
MAGEA12	4111	broad.mit.edu	37	chrX	151900225	151900225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgggcacgatctgattGtcgcccagcaggccatcgta	7	10	12	12	3	2	1	0	1	2	0	4	2	2	1	2	2	1	3	2	2	1	3			TCGA-DB-A4XE-01A-11D-A27K-08	TCGA-DB-A4XE-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6998fda2-aab1-4175-8606-2df81e5e7114	d4e7fe64-d8f5-4696-8470-f6fb2635b838	g.chrX:151900225G>T	ENST00000393900.3	-	3	929	c.576C>A	c.(574-576)gaC>gaA	p.D192E	CSAG4_ENST00000361201.4_RNA|MAGEA12_ENST00000357916.4_Missense_Mutation_p.D192E|MAGEA12_ENST00000393869.3_Missense_Mutation_p.D192E	NM_001166386.1	NP_001159858.1	P43365	MAGAC_HUMAN	melanoma antigen family A, 12	192	MAGE.									breast(5)|large_intestine(5)|liver(1)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CGATCTGATTGTCGCCCAGCA	0.577													T	151900225	G	T	151900225	3	4	319	1	0	0	0	0	1	0	0	0	9237	1368	48	4	372	4	MAGEA12	23	151900225	Missense_Mutation	SNP	G	TCGA-DB-A4XE-01A-11D-A27K-08	3331683	151900225	3370335	41	21432											
EIF3I	8668	broad.mit.edu	37	chr1	32688225	32688225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctttactgtggccaaGgaccctgtgagtgttggctg	5	13	12	11	0	1	1	0	1	1	0	2	2	2	2	3	3	1	2	3	3	2	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:32688225G>A	ENST00000373586.1	+	2	162	c.90G>A	c.(88-90)aaG>aaA	p.K30K	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	30						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTGTGGCCAAGGACCCTGTGA	0.587													A	32688225	G	A	32688225	2	1	320	1	0	0	0	0	0	0	0	1	5060	991	35	2		2	EIF3I	1	32688225	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		32688225	216562396	1	21433											
ARHGAP29	9411	broad.mit.edu	37	chr1	94655635	94655635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgtggaagaggttaactGttacctatggacccagagac	12	9	12	8	0	0	2	0	0	0	2	0	5	0	4	2	3	2	3	2	3	4	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:94655635G>C	ENST00000260526.6	-	13	1468	c.1286C>G	c.(1285-1287)aCa>aGa	p.T429R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	429					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		GAGGTTAACTGTTACCTATGG	0.423													C	94655635	G	C	94655635	3	2	320	1	0	0	0	0	1	0	0	0	881	1377	48	4	2543	4	ARHGAP29	1	94655635	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	61967410	94655635	154594986	2	21434											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220344243	220344245	+	In_Frame_Del	DEL	CTT	CTT	-																															cttcagcttaccttttcctcCttctaataactttttaacag																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr1:220344243_220344245delCTT	ENST00000358951.2	-	24	2911_2913	c.2795_2797delAAG	c.(2794-2799)gaagga>gga	p.E932del		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	932					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCTTTTCCTCCTTCTAATAACTT	0.389													-	220344245	CTT	-	220344243	7	5	320	1	0	1	0	1	0	0	0	0	13024	690	24	0	1432	0	RAB3GAP2	1	220344243	In_Frame_Del	DEL	CTT	TCGA-DB-A4XF-01A-11D-A27K-08	125688608	220344243	28906378	3	21435											
TTC7A	57217	broad.mit.edu	37	chr2	47233147	47233149	+	In_Frame_Del	DEL	CCT	CCT	-																															aatgccgcagccatctatgaCctcctgagcatcacgttggg																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:47233147_47233149delCCT	ENST00000319190.5	+	9	1520_1522	c.1152_1154delCCT	c.(1150-1155)gacctc>gac	p.L386del	TTC7A_ENST00000263737.6_In_Frame_Del_p.L32del|TTC7A_ENST00000409245.1_In_Frame_Del_p.L352del|TTC7A_ENST00000394850.2_In_Frame_Del_p.L386del|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	386							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCATCTATGACCTCCTGAGCATC	0.626													-	47233149	CCT	-	47233147	7	5	320	1	0	1	0	1	0	0	0	0	16814	506	18	0	1186	0	TTC7A	2	47233147	In_Frame_Del	DEL	CCT	TCGA-DB-A4XF-01A-11D-A27K-08		47233147	195966226	4	21436											
CYP26B1	56603	broad.mit.edu	37	chr2	72361956	72361956	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgaggaggtccagggcGtccaagtagtccttgccctg	8	9	13	11	1	1	1	1	1	0	0	4	2	4	2	4	3	1	1	4	3	3	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:72361956G>A	ENST00000001146.2	-	4	998	c.795C>T	c.(793-795)gaC>gaT	p.D265D	CYP26B1_ENST00000546307.1_Silent_p.D190D|CYP26B1_ENST00000412253.1_Silent_p.D74D	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	265					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTCCAGGGCGTCCAAGTAGT	0.632													A	72361956	G	A	72361956	2	1	320	1	0	0	0	0	0	0	0	1	4189	1136	40	1		1	CYP26B1	2	72361956	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	25128809	72361956	170837417	5	21437											
LONRF2	164832	broad.mit.edu	37	chr2	100911951	100911951	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcagacaattcatccGgcaaatatcgaaatattaat	16	12	4	9	2	2	1	2	0	0	1	5	2	4	1	2	1	0	1	2	1	7	5			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:100911951G>C	ENST00000393437.3	-	8	2180	c.1541C>G	c.(1540-1542)cCg>cGg	p.P514R	LONRF2_ENST00000409647.1_Missense_Mutation_p.P271R	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	514					proteolysis		ATP-dependent peptidase activity|zinc ion binding	p.P514L(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CAATTCATCCGGCAAATATCG	0.343													C	100911951	G	C	100911951	3	2	320	1	0	0	0	0	1	0	0	0	8965	1116	39	4	743	4	LONRF2	2	100911951	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	28549995	100911951	142287422	6	21438											
TANK	10010	broad.mit.edu	37	chr2	162036208	162036208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgagcaactcaataaagCgtatgaagccttccggcagg	12	7	12	10	3	1	1	1	1	0	0	2	2	2	1	2	3	4	3	2	3	6	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:162036208C>T	ENST00000392749.2	+	2	274	c.35C>T	c.(34-36)gCg>gTg	p.A12V	TANK_ENST00000406287.1_Missense_Mutation_p.A70V|TANK_ENST00000259075.2_Missense_Mutation_p.A12V|TANK_ENST00000403609.1_Missense_Mutation_p.A12V|TANK_ENST00000457476.1_Missense_Mutation_p.A12V|TANK_ENST00000402568.1_Missense_Mutation_p.A70V|TANK_ENST00000405852.1_Missense_Mutation_p.A12V	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	12						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CTCAATAAAGCGTATGAAGCC	0.393													T	162036208	C	T	162036208	3	4	320	1	0	0	0	0	1	0	0	0	15643	768	27	1	37	1	TANK	2	162036208	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	61124257	162036208	81163165	7	21439											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	320	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	47076905	209113113	34086260	8	21440											
SRPRB	58477	broad.mit.edu	37	chr3	133525498	133525500	+	In_Frame_Del	DEL	TTC	TTC	-																															aaggagcagtcagagagctgTtcttcttgttggcctttgtg																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr3:133525498_133525500delTTC	ENST00000466490.2	+	3	485_487	c.200_202delTTC	c.(199-204)gttctt>gtt	p.L69del		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	69						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CAGAGAGCTGTTCTTCTTGTTGG	0.399													-	133525500	TTC	-	133525498	7	5	320	1	0	1	0	1	0	0	0	0	15259	1725	60	0	206	0	SRPRB	3	133525498	In_Frame_Del	DEL	TTC	TCGA-DB-A4XF-01A-11D-A27K-08		133525498	64496932	9	21441											
PRMT10	90826	broad.mit.edu	37	chr4	148575687	148575687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgacaagatacttccatcAtcacatggtctccaggcttt	10	13	6	12	0	3	2	2	1	1	1	5	2	4	2	2	2	1	1	2	2	2	4			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr4:148575687A>G	ENST00000322396.6	-	9	1603	c.1361T>C	c.(1360-1362)aTg>aCg	p.M454T	PRMT10_ENST00000541232.1_Missense_Mutation_p.M341T|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	454						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						TACTTCCATCATCACATGGTC	0.358													G	148575687	A	G	148575687	3	3	320	1	0	0	0	0	1	0	0	0	12622	217	8	3	1192	3	PRMT10	4	148575687	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		148575687	42578589	10	21442											
GIN1	54826	broad.mit.edu	37	chr5	102440512	102440513	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtttcggtgctacaataacTgtattttttgccacttggca																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:102440512_102440513delTG	ENST00000399004.2	-	4	465_466	c.371_372delCA	c.(370-372)acafs	p.T124fs	GIN1_ENST00000508629.1_Frame_Shift_Del_p.T124fs	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	124					DNA integration		DNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		CTACAATAACTGTATTTTTTGC	0.386													-	102440513	TG	-	102440512	7	5	320	1	0	1	0	1	0	0	0	0	6442	1567	55	0	1216	0	GIN1	5	102440512	Frame_Shift_Del	DEL	TG	TCGA-DB-A4XF-01A-11D-A27K-08		102440512	78474748	11	21443											
MAML1	9794	broad.mit.edu	37	chr5	179201423	179201423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcactgcagcctccagtTtccacatgcagcagcaggcc	8	8	8	17	0	1	0	1	0	0	0	3	0	3	0	5	1	5	5	5	1	0	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr5:179201423T>C	ENST00000292599.3	+	5	2859	c.2596T>C	c.(2596-2598)Ttc>Ctc	p.F866L	MAML1_ENST00000503050.1_Intron	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	866					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCCTCCAGTTTCCACATGCA	0.607													C	179201423	T	C	179201423	3	2	320	1	0	0	0	0	1	0	0	0	9280	1841	64	3	2614	3	MAML1	5	179201423	Missense_Mutation	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	76760911	179201423	1713837	12	21444											
HLA-F	3134	broad.mit.edu	37	chr6	29694761	29694761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctgcctccggagtcacAgtgtcttgggccgccggaag	5	8	16	12	3	2	0	1	0	1	0	3	2	3	2	4	4	1	1	4	4	1	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr6:29694761A>G	ENST00000440587.2	+	6	1110	c.751A>G	c.(751-753)Agt>Ggt	p.S251G	HLA-F_ENST00000259951.7_Missense_Mutation_p.S380G|HLA-F_ENST00000475996.1_Intron			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	0	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						CCGGAGTCACAGTGTCTTGGG	0.512													G	29694761	A	G	29694761	3	3	320	1	0	0	0	0	1	0	0	0	7266	188	7	3	1173	3	HLA-F	6	29694761	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		29694761	141420306	13	21445											
TRIM55	84675	broad.mit.edu	37	chr8	67086746	67086746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagggacaggctgcagCtccagcgagtggcagtggag	8	5	16	12	1	0	0	0	0	0	0	2	3	2	2	3	4	3	4	3	4	0	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr8:67086746C>T	ENST00000315962.4	+	10	1938	c.1565C>T	c.(1564-1566)gCt>gTt	p.A522V	TRIM55_ENST00000353317.5_Missense_Mutation_p.A426V|TRIM55_ENST00000350034.4_Missense_Mutation_p.A215V|TRIM55_ENST00000276573.7_3'UTR	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	522						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CAGGCTGCAGCTCCAGCGAGT	0.478													T	67086746	C	T	67086746	3	4	320	1	0	0	0	0	1	0	0	0	16630	797	28	2	1695	2	TRIM55	8	67086746	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		67086746	79277276	14	21446											
KIAA1161	57462	broad.mit.edu	37	chr9	34371509	34371509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggggtccggcagcggcCggtaggtgctgaagtcccgc	4	6	18	13	5	0	1	0	1	0	0	2	1	2	1	3	6	2	4	3	6	2	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:34371509C>T	ENST00000297625.7	-	2	1556	c.1331G>A	c.(1330-1332)cGg>cAg	p.R444Q		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	478					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGGCAGCGGCCGGTAGGTGCT	0.677													T	34371509	C	T	34371509	3	4	320	1	0	0	0	0	1	0	0	0	8269	652	23	1	715	1	KIAA1161	9	34371509	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		34371509	106841922	15	21447											
CCIN	881	broad.mit.edu	37	chr9	36170045	36170045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacctgttatctttggccgCctgctccgtgatgaaaacct	7	12	8	14	2	1	2	0	2	1	0	2	2	2	2	6	1	2	2	6	1	3	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr9:36170045C>A	ENST00000335119.2	+	1	657	c.546C>A	c.(544-546)cgC>cgA	p.R182R		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	182	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			TCTTTGGCCGCCTGCTCCGTG	0.542													A	36170045	C	A	36170045	2	1	320	1	0	0	0	0	0	0	0	1	2906	726	26	4		4	CCIN	9	36170045	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	1798536	36170045	105043386	16	21448											
LRRTM3	347731	broad.mit.edu	37	chr10	68857549	68857549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaccataaacagcagctaGcttaactgagatcattggta	14	10	9	8	0	1	2	1	2	0	1	1	3	1	2	1	1	5	4	1	1	5	5			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr10:68857549G>A	ENST00000361320.4	+	3	2319	c.1741G>A	c.(1741-1743)Gct>Act	p.A581T	CTNNA3_ENST00000373744.4_Intron|CTNNA3_ENST00000433211.2_Intron|LRRTM3_ENST00000485868.1_3'UTR	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3	581						integral to membrane				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						ACAGCAGCTAGCTTAACTGAG	0.448													A	68857549	G	A	68857549	3	1	320	1	0	0	0	0	1	0	0	0	9111	971	34	2	1751	2	LRRTM3	10	68857549	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		68857549	66677198	17	21449											
LDLRAD3	143458	broad.mit.edu	37	chr11	36057651	36057652	+	Splice_Site	DEL	AG	AG	-																															acctgtcccctctctctgacAgagagccagctgctccccgg																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:36057651_36057652delAG	ENST00000315571.5	+	2	67		c.e2-1		LDLRAD3_ENST00000528989.1_Intron|LDLRAD3_ENST00000524419.1_Intron	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3							integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				TCTCTCTGACAGAGAGCCAGCT	0.574													-	36057652	AG	-	36057651	8	5	320	1	0	1	0	1	0	0	1	0	8766	202	7	0	51	0	LDLRAD3	11	36057651	Splice_Site	DEL	AG	TCGA-DB-A4XF-01A-11D-A27K-08		36057651	98948865	18	21450											
SCN4B	6330	broad.mit.edu	37	chr11	118014578	118014578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttggaggaagatggtggCgtggtgctggagattattct	8	12	17	4	1	1	2	0	0	1	2	1	6	1	4	0	6	1	1	0	6	2	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118014578C>T	ENST00000324727.4	-	3	579	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	SCN4B_ENST00000529878.1_Intron	NM_001142349.1|NM_174934.3	NP_001135821.1|NP_777594.1	Q8IWT1	SCN4B_HUMAN	sodium channel, voltage-gated, type IV, beta subunit	145	Ig-like C2-type.					voltage-gated sodium channel complex	voltage-gated sodium channel activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.33e-05)|Epithelial(105;0.00126)		AAGATGGTGGCGTGGTGCTGG	0.547													T	118014578	C	T	118014578	3	4	320	1	0	0	0	0	1	0	0	0	14014	768	27	1	265	1	SCN4B	11	118014578	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	81956927	118014578	16991938	19	21451											
HYOU1	10525	broad.mit.edu	37	chr11	118919446	118919446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgcaccgactgagccagCttatcctctggcaagtcagg	8	10	10	13	1	3	1	1	1	2	0	4	2	4	1	3	2	3	3	3	2	2	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr11:118919446C>T	ENST00000404233.3	-	18	2269	c.2145G>A	c.(2143-2145)aaG>aaA	p.K715K	HYOU1_ENST00000525859.1_Silent_p.K653K|HYOU1_ENST00000543287.1_3'UTR|HYOU1_ENST00000529972.1_Silent_p.K653K	NM_001130991.1|NM_006389.3	NP_001124463.1|NP_006380.1	Q9Y4L1	HYOU1_HUMAN	hypoxia up-regulated 1	715						endoplasmic reticulum lumen	ATP binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(10)|prostate(1)|skin(2)	33	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.78e-05)		ACTGAGCCAGCTTATCCTCTG	0.592													T	118919446	C	T	118919446	2	4	320	1	0	0	0	0	0	0	0	1	7528	796	28	2		2	HYOU1	11	118919446	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	904868	118919446	16087070	20	21452											
DUSP16	80824	broad.mit.edu	37	chr12	12673837	12673840	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															tgaatgctggatgagctctgTaattaacactttgtcctgtt																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:12673837_12673840delTAAT	ENST00000228862.2	-	2	824_827	c.193_196delATTA	c.(193-198)attacafs	p.IT65fs	DUSP16_ENST00000298573.4_Frame_Shift_Del_p.IT65fs	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	65	Rhodanese.				inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		ATGAGCTCTGTAATTAACACTTTG	0.377													-	12673840	TAAT	-	12673837	7	5	320	1	0	1	0	1	0	0	0	0	4855	1638	57	0	1825	0	DUSP16	12	12673837	Frame_Shift_Del	DEL	TAAT	TCGA-DB-A4XF-01A-11D-A27K-08		12673837	121178058	21	21453											
CAND1	55832	broad.mit.edu	37	chr12	67704094	67704094	+	Frame_Shift_Del	DEL	A	A	-																															tgaaggaccattatgatattAaggtaagatgtttgtgccta																										TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:67704094delA	ENST00000545606.1	+	13	3795	c.3358delA	c.(3358-3360)aagfs	p.K1120fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1120					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TTATGATATTAAGGTAAGATG	0.328													-	67704094	A	-	67704094	7	5	320	1	0	1	0	1	0	0	0	0	2641	363	13	0	3408	0	CAND1	12	67704094	Frame_Shift_Del	DEL	A	TCGA-DB-A4XF-01A-11D-A27K-08	55030257	67704094	66147801	22	21454											
DEPDC4	120863	broad.mit.edu	37	chr12	100656178	100656178	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggatttgaaatcatttcAtatcctggtctgttaaaaaa	15	14	7	5	0	3	2	2	1	1	1	4	3	4	3	1	2	0	1	1	2	5	4			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:100656178A>C	ENST00000416321.1	-	3	566	c.564T>G	c.(562-564)taT>taG	p.Y188*		NM_152317.2	NP_689530.1	Q8N2C3	DEPD4_HUMAN	DEP domain containing 4	188					intracellular signal transduction					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)|urinary_tract(1)	15						AAATCATTTCATATCCTGGTC	0.279													C	100656178	A	C	100656178	4	2	320	1	0	0	0	0	0	1	0	0	4480	224	8	5	332	5	DEPDC4	12	100656178	Nonsense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08	32952084	100656178	33195717	23	21455											
ANKLE2	23141	broad.mit.edu	37	chr12	133313477	133313477	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcttctacagcagctcAccttggctggactcaggggc	9	8	12	12	0	3	1	2	0	1	1	3	2	3	2	1	4	4	4	1	4	2	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr12:133313477A>C	ENST00000539605.1	-	7	8092		c.e7+1		ANKLE2_ENST00000357997.5_Splice_Site|ANKLE2_ENST00000337516.5_Splice_Site			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2							cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		ACAGCAGCTCACCTTGGCTGG	0.622													C	133313477	A	C	133313477	5	2	320	1	0	0	0	0	0	0	1	0	633	173	6	5	1245	5	ANKLE2	12	133313477	Splice_Site	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08	32657299	133313477	538418	24	21456											
OR4Q3	441669	broad.mit.edu	37	chr14	20215861	20215861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctacagcagggcaagaGcatctctttttcaggatgcc	9	12	9	11	0	2	1	1	0	1	1	4	2	3	2	2	2	4	3	2	2	2	4			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:20215861G>T	ENST00000331723.1	+	1	275	c.275G>T	c.(274-276)aGc>aTc	p.S92I		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAGGGCAAGAGCATCTCTTTT	0.448													T	20215861	G	T	20215861	3	4	320	1	0	0	0	0	1	0	0	0	11157	971	34	4	277	4	OR4Q3	14	20215861	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		20215861	87133679	25	21457											
SPTB	6710	broad.mit.edu	37	chr14	65260091	65260091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttcaccagagagcagccGgtgggcgtcttgcagccaag	9	7	13	12	2	3	1	1	0	2	1	3	2	3	1	3	2	4	2	3	2	1	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:65260091G>A	ENST00000389722.3	-	13	2343	c.2290C>T	c.(2290-2292)Cgg>Tgg	p.R764W	SPTB_ENST00000556626.1_Missense_Mutation_p.R764W|SPTB_ENST00000389720.3_Missense_Mutation_p.R764W|SPTB_ENST00000389721.5_Missense_Mutation_p.R764W|SPTB_ENST00000542895.1_Missense_Mutation_p.R764W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	764					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GAGAGCAGCCGGTGGGCGTCT	0.612													A	65260091	G	A	65260091	3	1	320	1	0	0	0	0	1	0	0	0	15214	1115	39	1	4857	1	SPTB	14	65260091	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	45044230	65260091	42089449	26	21458											
BEGAIN	57596	broad.mit.edu	37	chr14	101004382	101004382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccgagccaccagtccgcGgaaaggcctgctgggggctg	6	4	16	15	3	0	0	0	0	0	0	1	2	1	1	6	4	2	2	6	4	1	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr14:101004382G>A	ENST00000556751.1	-	5	4918	c.1514C>T	c.(1513-1515)cCg>cTg	p.P505L	BEGAIN_ENST00000443071.2_Missense_Mutation_p.P569L|BEGAIN_ENST00000355173.2_Missense_Mutation_p.P569L			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	569						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				ACCAGTCCGCGGAAAGGCCTG	0.687													A	101004382	G	A	101004382	3	1	320	1	0	0	0	0	1	0	0	0	1402	1116	39	1	79	1	BEGAIN	14	101004382	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	35744291	101004382	6345158	27	21459											
XYLT1	64131	broad.mit.edu	37	chr16	17235124	17235124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaaccagtccgaaccGccatccacggcaatgccctc	11	4	9	17	3	0	0	0	0	0	0	3	2	2	1	6	2	4	2	6	2	3	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:17235124G>A	ENST00000261381.6	-	7	1557	c.1473C>T	c.(1471-1473)ggC>ggT	p.G491G		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	491					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity	p.G491G(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTCCGAACCGCCATCCACGG	0.572													A	17235124	G	A	17235124	2	1	320	1	0	0	0	0	0	0	0	1	17565	1074	38	1		1	XYLT1	16	17235124	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		17235124	73119629	28	21460											
CCDC135	84229	broad.mit.edu	37	chr16	57732851	57732851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacctgctgcaggtggCagacaacttctcccgccagt	9	7	11	14	1	1	1	0	0	1	1	2	2	1	2	3	3	4	3	3	3	2	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:57732851C>T	ENST00000360716.3	+	4	514	c.293C>T	c.(292-294)gCa>gTa	p.A98V	CCDC135_ENST00000394337.4_Missense_Mutation_p.A98V|CCDC135_ENST00000336825.8_Missense_Mutation_p.A98V|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	98						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGCAGGTGGCAGACAACTTC	0.572													T	57732851	C	T	57732851	3	4	320	1	0	0	0	0	1	0	0	0	2795	710	25	2	299	2	CCDC135	16	57732851	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	40497727	57732851	32621902	29	21461											
CHMP1A	5119	broad.mit.edu	37	chr16	89713000	89713000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcagaggcgccctcgggCagctggctgagctggtccag	6	5	17	13	3	0	2	0	1	0	1	2	2	1	2	2	5	2	5	2	5	0	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr16:89713000C>T	ENST00000253475.5	-	5	616	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	CHMP1A_ENST00000535997.2_Silent_p.L104L|CHMP1A_ENST00000550102.1_Silent_p.L159L|CHMP1A_ENST00000397901.3_Silent_p.L168L	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CGCCCTCGGGCAGCTGGCTGA	0.677													T	89713000	C	T	89713000	3	4	320	1	0	0	0	0	1	0	0	0	3382	710	25	2	246	2	CHMP1A	16	89713000	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	31980149	89713000	641753	30	21462											
ARRB2	409	broad.mit.edu	37	chr17	4619841	4619841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccaccccggccccccAcccgcctgcaggaccggctg	6	2	9	24	3	0	0	0	0	0	0	0	1	0	1	10	3	2	2	10	3	1	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:4619841A>C	ENST00000269260.2	+	5	528	c.295A>C	c.(295-297)Acc>Ccc	p.T99P	ARRB2_ENST00000575877.1_Missense_Mutation_p.T99P|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000412477.3_Missense_Mutation_p.T99P|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Missense_Mutation_p.T84P|ARRB2_ENST00000381488.6_Missense_Mutation_p.T84P	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	99					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						CCGGCCCCCCACCCGCCTGCA	0.682													C	4619841	A	C	4619841	3	2	320	1	0	0	0	0	1	0	0	0	986	159	6	5	313	5	ARRB2	17	4619841	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08		4619841	76575369	31	21463											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R|TP53_ENST00000359597.4_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			C	7578271	T	C	7578271	3	2	320	1	0	0	0	0	1	0	0	0	16482	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	2958430	7578271	73616939	32	21464											
MYH10	4628	broad.mit.edu	37	chr17	8383821	8383821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccgagcttccagacgccGcttctcatccagcagcgcgg	7	7	11	16	5	1	1	1	0	1	1	5	3	4	1	4	1	3	3	4	1	0	2	rs150332952	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:8383821G>A	ENST00000360416.3	-	39	5425	c.5287C>T	c.(5287-5289)Cgg>Tgg	p.R1763W	MYH10_ENST00000396239.1_Missense_Mutation_p.R1753W|NDEL1_ENST00000299734.7_Missense_Mutation_p.R328H|MYH10_ENST00000269243.4_Missense_Mutation_p.R1732W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1748W	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1732					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCAGACGCCGCTTCTCATCC	0.632													A	8383821	G	A	8383821	3	1	320	1	0	0	0	0	1	0	0	0	10106	1086	38	1	756	1	MYH10	17	8383821	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	805550	8383821	72811389	33	21465											
MYH4	4622	broad.mit.edu	37	chr17	10370053	10370053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatggccatctcagagtCagaactcatggctgcaggtt	13	9	10	9	0	3	2	3	0	1	2	4	2	3	2	1	3	2	3	1	3	3	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:10370053C>A	ENST00000255381.2	-	3	120	c.10G>T	c.(10-12)Gac>Tac	p.D4Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	4	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCTCAGAGTCAGAACTCATG	0.473													A	10370053	C	A	10370053	3	1	320	1	0	0	0	0	1	0	0	0	10113	826	29	4	5961	4	MYH4	17	10370053	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	1986232	10370053	70825157	34	21466											
MYH3	4621	broad.mit.edu	37	chr17	10533480	10533480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactctgtgttcttcttctGctctccctcaagttcaaact	7	16	5	13	0	7	1	2	0	5	1	8	1	7	1	1	0	2	3	1	0	2	4			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:10533480G>T	ENST00000583535.1	-	38	5578	c.5491C>A	c.(5491-5493)Cag>Aag	p.Q1831K	MYH3_ENST00000226209.7_Missense_Mutation_p.Q1831K	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1831					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTCTTCTGCTCTCCCTCA	0.557													T	10533480	G	T	10533480	3	4	320	1	0	0	0	0	1	0	0	0	10112	1328	46	4	347	4	MYH3	17	10533480	Missense_Mutation	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	163427	10533480	70661730	35	21467											
KRTAP17-1	83902	broad.mit.edu	37	chr17	39471743	39471743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatccacagcaagacgatcCgcagcagctgcccccgcagc	11	3	10	17	3	0	2	0	0	0	2	2	3	2	2	4	0	5	5	4	0	1	0			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr17:39471743C>T	ENST00000334202.3	-	1	204	c.160G>A	c.(160-162)Gga>Aga	p.G54R		NM_031964.1	NP_114170.1	Q9BYP8	KR171_HUMAN	keratin associated protein 17-1	54						intermediate filament				haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			caagacgatccgcagcagctg	0.697													T	39471743	C	T	39471743	3	4	320	1	0	0	0	0	1	0	0	0	8585	661	23	1	161	1	KRTAP17-1	17	39471743	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	28938263	39471743	41723467	36	21468											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011886	46011886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagcagacaggcttgcaGcagacgggcacacagcaggc	12	2	14	13	1	0	3	0	0	0	3	0	3	0	3	1	3	4	6	1	3	0	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chr21:46011886G>A	ENST00000400368.1	-	1	500	c.480C>T	c.(478-480)tgC>tgT	p.C160C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	160	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						CAGGCTTGCAGCAGACGGGCA	0.627													A	46011886	G	A	46011886	2	1	320	1	0	0	0	0	0	0	0	1	8571	963	34	2		2	KRTAP10-6	21	46011886	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08		46011886	2118009	37	21469											
VSIG4	11326	broad.mit.edu	37	chrX	65253352	65253352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtaatcttatctctcaCgacttggttgccatcaggag	9	13	8	11	1	5	0	3	0	2	0	6	2	5	1	1	2	1	2	1	2	2	4	rs141882052	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:65253352C>T	ENST00000455586.2	-	2	502	c.376G>A	c.(376-378)Gtg>Atg	p.V126M	VSIG4_ENST00000374737.4_Missense_Mutation_p.V126M|VSIG4_ENST00000412866.2_Missense_Mutation_p.V126M	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	126	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTATCTCTCACGACTTGGTTG	0.483													T	65253352	C	T	65253352	3	4	320	1	0	0	0	0	1	0	0	0	17327	536	19	1	855	1	VSIG4	23	65253352	Missense_Mutation	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08		65253352	90017208	38	21470											
ESX1	80712	broad.mit.edu	37	chrX	103495293	103495293	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaggcgccatgcgtgaGccgggtggcacaggcgccat	7	4	17	13	4	0	1	0	1	0	0	0	1	0	1	3	5	2	2	3	5	0	0	rs147779192	byFrequency	TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:103495293G>A	ENST00000372588.4	-	4	920	c.837C>T	c.(835-837)ggC>ggT	p.G279G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	279	15 X 9 AA tandem repeats of P-P-x-x-P-x- P-P-x.				negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CCATGCGTGAGCCGGGTGGCA	0.716													A	103495293	G	A	103495293	2	1	320	1	0	0	0	0	0	0	0	1	5304	958	34	2		2	ESX1	23	103495293	Silent	SNP	G	TCGA-DB-A4XF-01A-11D-A27K-08	38241941	103495293	51775267	39	21471											
NRK	203447	broad.mit.edu	37	chrX	105167230	105167230	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaactccggcacctgtcAttcagccacctgaagaggat	10	9	10	12	1	2	2	2	1	0	1	3	3	3	3	4	3	2	2	4	3	2	2			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:105167230A>T	ENST00000428173.2	+	18	3037	c.2734A>T	c.(2734-2736)Att>Ttt	p.I912F	NRK_ENST00000243300.9_Missense_Mutation_p.I911F			Q7Z2Y5	NRK_HUMAN	Nik related kinase	911							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						GGCACCTGTCATTCAGCCACC	0.418										HNSCC(51;0.14)			T	105167230	A	T	105167230	3	4	320	1	0	0	0	0	1	0	0	0	10731	217	8	5	2801	5	NRK	23	105167230	Missense_Mutation	SNP	A	TCGA-DB-A4XF-01A-11D-A27K-08	1671937	105167230	50103330	40	21472											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959414	117959414	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactggctgacccaagtcaaTggcgtcctgccagattggaa	11	8	11	11	1	1	2	1	1	0	1	2	3	2	3	3	3	2	1	3	3	4	1			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:117959414T>C	ENST00000310164.2	+	4	714	c.207T>C	c.(205-207)aaT>aaC	p.N69N		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						cccaagtcaatggcgtcctgc	0.542													C	117959414	T	C	117959414	2	2	320	1	0	0	0	0	0	0	0	1	17682	1461	51	3		3	ZCCHC12	23	117959414	Silent	SNP	T	TCGA-DB-A4XF-01A-11D-A27K-08	12792184	117959414	37311146	41	21473											
F8	2157	broad.mit.edu	37	chrX	154194745	154194745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatagtcccagtcctcCtcttcagcagcaatgtaatg	10	10	9	12	0	2	0	1	0	1	0	5	1	5	1	3	1	3	4	3	1	3	3			TCGA-DB-A4XF-01A-11D-A27K-08	TCGA-DB-A4XF-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2ec49f6-9196-4883-a531-bdf8835be7a0	379dc17f-9fbe-4979-a612-eed92084b79d	g.chrX:154194745C>T	ENST00000360256.4	-	8	1427	c.1227G>A	c.(1225-1227)gaG>gaA	p.E409E	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	409	F5/8 type A 2.|Plastocyanin-like 3.		E -> G (in HEMA; severe/moderate; dbSNP:rs28933671).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCCAGTCCTCCTCTTCAGCAG	0.453													T	154194745	C	T	154194745	2	4	320	1	0	0	0	0	0	0	0	1	5392	680	24	2		2	F8	23	154194745	Silent	SNP	C	TCGA-DB-A4XF-01A-11D-A27K-08	36235331	154194745	1075815	42	21474											
GJA4	2701	broad.mit.edu	37	chr1	35260639	35260639	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggccaggggccctcatcCccaccatgccccacctacaa	8	5	9	19	0	1	0	1	0	0	0	2	0	2	0	8	3	2	0	8	3	2	1			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr1:35260639C>A	ENST00000342280.4	+	2	913	c.825C>A	c.(823-825)tcC>tcA	p.S275S		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	275					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGCCCTCATCCCCACCATGCC	0.647													A	35260639	C	A	35260639	2	1	321	1	0	0	0	0	0	0	0	1	6459	610	22	4		4	GJA4	1	35260639	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		35260639	213989982	1	21475											
EML4	27436	broad.mit.edu	37	chr2	42553330	42553330	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaactaatcaggaatcGatcggattgtaaggacattg	14	10	10	7	2	1	0	1	0	0	0	3	4	1	3	0	3	2	2	0	3	4	4			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:42553330G>T	ENST00000318522.5	+	21	2541	c.2279G>T	c.(2278-2280)cGa>cTa	p.R760L	EML4_ENST00000402711.2_Missense_Mutation_p.R702L|EML4_ENST00000453191.2_Missense_Mutation_p.R24L|EML4_ENST00000401738.3_Missense_Mutation_p.R771L	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	760					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATCAGGAATCGATCGGATTGT	0.368			T	ALK	NSCLC								T	42553330	G	T	42553330	3	4	321	1	0	0	0	0	1	0	0	0	5140	1058	37	4	2361	4	EML4	2	42553330	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08		42553330	200646043	2	21476											
LRP2	4036	broad.mit.edu	37	chr2	170112638	170112638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagatggcaagtccaaaCggatgtgtcatctgctctat	12	10	9	10	1	3	1	1	0	2	1	4	2	4	2	2	2	2	2	2	2	4	1			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:170112638C>T	ENST00000263816.3	-	19	3033	c.2748G>A	c.(2746-2748)ccG>ccA	p.P916P	LRP2_ENST00000443831.1_Silent_p.P779P	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	916					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAAGTCCAAACGGATGTGTCA	0.373													T	170112638	C	T	170112638	2	4	321	1	0	0	0	0	0	0	0	1	9026	523	19	1		1	LRP2	2	170112638	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	127559308	170112638	73086735	3	21477											
TNS1	7145	broad.mit.edu	37	chr2	218712917	218712917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctgccAcgaattcagtcccctttgca	5	12	9	15	1	1	0	1	0	0	0	2	1	2	0	3	0	7	6	3	0	1	2			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr2:218712917A>G	ENST00000171887.4	-	17	2400	c.1948T>C	c.(1948-1950)Tgg>Cgg	p.W650R	TNS1_ENST00000419504.1_Missense_Mutation_p.W650R|TNS1_ENST00000430930.1_Missense_Mutation_p.W650R	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	650						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		tgctgctgcCACGAATTCAGT	0.642													G	218712917	A	G	218712917	3	3	321	1	0	0	0	0	1	0	0	0	16443	159	6	3	3327	3	TNS1	2	218712917	Missense_Mutation	SNP	A	TCGA-DB-A4XG-01A-11D-A27K-08	48600279	218712917	24486456	4	21478											
FGD5	152273	broad.mit.edu	37	chr3	14922122	14922122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcatcgcacaggaactgcTatcttcagagaaagcgtgag	12	9	11	9	2	3	2	2	1	1	1	4	4	3	3	0	1	3	2	0	1	3	2			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr3:14922122T>C	ENST00000285046.5	+	3	2812	c.2702T>C	c.(2701-2703)cTa>cCa	p.L901P	FGD5_ENST00000543601.1_Missense_Mutation_p.L660P	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	901	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CAGGAACTGCTATCTTCAGAG	0.532													C	14922122	T	C	14922122	3	2	321	1	0	0	0	0	1	0	0	0	5885	1522	53	3	2712	3	FGD5	3	14922122	Missense_Mutation	SNP	T	TCGA-DB-A4XG-01A-11D-A27K-08		14922122	183100308	5	21479											
PAICS	10606	broad.mit.edu	37	chr4	57316856	57316857	+	Frame_Shift_Del	DEL	AG	AG	-																															aaaaactttgagtgggttgcAgagagagtagaggtaaacct																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr4:57316856_57316857delAG	ENST00000514888.1	+	7	998_999	c.483_484delAG	c.(481-486)gcagagfs	p.E162fs	PAICS_ENST00000512576.1_Frame_Shift_Del_p.E254fs|PAICS_ENST00000399688.3_Frame_Shift_Del_p.E261fs|PAICS_ENST00000264221.2_Frame_Shift_Del_p.E254fs			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	254	SAICAR synthetase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	AGTGGGTTGCAGAGAGAGTAGA	0.327													-	57316857	AG	-	57316856	7	5	321	1	0	1	0	1	0	0	0	0	11471	175	7	0	806	0	PAICS	4	57316856	Frame_Shift_Del	DEL	AG	TCGA-DB-A4XG-01A-11D-A27K-08		57316856	133837420	6	21480											
NIPBL	25836	broad.mit.edu	37	chr5	37022199	37022199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattgctgttcgaacaaaagCcatgaagtgtttgtctgagg	12	12	11	6	1	1	2	0	2	1	0	2	3	1	2	1	1	3	3	1	1	5	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr5:37022199C>A	ENST00000282516.8	+	28	5874	c.5375C>A	c.(5374-5376)gCc>gAc	p.A1792D	NIPBL_ENST00000448238.2_Missense_Mutation_p.A1792D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1792					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CGAACAAAAGCCATGAAGTGT	0.343													A	37022199	C	A	37022199	3	1	321	1	0	0	0	0	1	0	0	0	10504	739	26	4	5481	4	NIPBL	5	37022199	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		37022199	143893061	7	21481											
SIM1	6492	broad.mit.edu	37	chr6	100868815	100868815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccagggagagctgcaGccctttgtattctgtgtctc	6	13	11	11	0	2	2	0	1	2	1	4	3	3	2	2	1	3	3	2	1	1	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:100868815G>A	ENST00000369208.3	-	10	1800	c.1018C>T	c.(1018-1020)Ctg>Ttg	p.L340L	SIM1_ENST00000262901.4_Silent_p.L340L			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	340	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GAGAGCTGCAGCCCTTTGTAT	0.507													A	100868815	G	A	100868815	2	1	321	1	0	0	0	0	0	0	0	1	14417	962	34	2		2	SIM1	6	100868815	Silent	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08		100868815	70246252	8	21482											
STX11	8676	broad.mit.edu	37	chr6	144508431	144508431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctggagagccgcatccgcGacgtacacgagctcttcttg	7	8	12	14	5	2	1	0	0	2	1	3	4	3	1	3	1	3	3	3	1	1	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr6:144508431G>A	ENST00000367568.4	+	2	850	c.667G>A	c.(667-669)Gac>Aac	p.D223N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	223	t-SNARE coiled-coil homology.				cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		CCGCATCCGCGACGTACACGA	0.632									Familial Hemophagocytic Lymphohistiocytosis				A	144508431	G	A	144508431	3	1	321	1	0	0	0	0	1	0	0	0	15433	1058	37	1	669	1	STX11	6	144508431	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	43639616	144508431	26606636	9	21483											
ANKIB1	54467	broad.mit.edu	37	chr7	91981897	91981897	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctggatctgatacactCagcttcccattgctgagagc	10	11	8	12	0	3	2	1	2	2	1	4	4	4	3	1	1	4	2	1	1	1	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:91981897C>T	ENST00000265742.3	+	9	1714	c.1338C>T	c.(1336-1338)ctC>ctT	p.L446L		NM_019004.1	NP_061877.1	Q9P2G1	AKIB1_HUMAN	ankyrin repeat and IBR domain containing 1	446							protein binding|zinc ion binding			cervix(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(19)|skin(1)	41	all_cancers(62;2.06e-09)|all_epithelial(64;9.24e-09)|Breast(17;0.0034)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|all cancers(6;0.00183)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGATACACTCAGCTTCCCAT	0.433													T	91981897	C	T	91981897	2	4	321	1	0	0	0	0	0	0	0	1	630	813	29	2		2	ANKIB1	7	91981897	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		91981897	67156766	10	21484											
ZCWPW1	55063	broad.mit.edu	37	chr7	100014771	100014773	+	In_Frame_Del	DEL	AAG	AAG	-																															agatactacgggctgggcacAagaagtctctgcaaaatcaa																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:100014771_100014773delAAG	ENST00000398027.2	-	6	642_644	c.395_397delCTT	c.(394-399)tcttgt>tgt	p.S132del	ZCWPW1_ENST00000360951.4_In_Frame_Del_p.S132del|ZCWPW1_ENST00000490721.1_In_Frame_Del_p.S11del|ZCWPW1_ENST00000324725.6_In_Frame_Del_p.S11del	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	132							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCTGGGCACAAGAAGTCTCTGC	0.419													-	100014773	AAG	-	100014771	7	5	321	1	0	1	0	1	0	0	0	0	17698	130	5	0	1601	0	ZCWPW1	7	100014771	In_Frame_Del	DEL	AAG	TCGA-DB-A4XG-01A-11D-A27K-08	8032874	100014771	59123892	11	21485											
EPHB6	2051	broad.mit.edu	37	chr7	142562309	142562309	+	Frame_Shift_Del	DEL	G	G	-																															agacgcaggccagtggggctGggggggcctccctggtggca																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr7:142562309delG	ENST00000392957.2	+	7	1538	c.751delG	c.(751-753)gggfs	p.G252fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Del_p.G252fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	252	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CAGTGGGGCTGGGGGGGCCTC	0.682													-	142562309	G	-	142562309	7	5	321	1	0	1	0	1	0	0	0	0	5219	1348	47	0	761	0	EPHB6	7	142562309	Frame_Shift_Del	DEL	G	TCGA-DB-A4XG-01A-11D-A27K-08	42547538	142562309	16576354	12	21486											
MATN2	4147	broad.mit.edu	37	chr8	99045826	99045826	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacgatcaatgcaaatgTgaaaaccttataatgttcca	18	10	5	8	1	1	1	1	1	0	0	2	2	2	1	2	0	3	2	2	0	7	3			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:99045826T>G	ENST00000254898.5	+	18	2985	c.2754T>G	c.(2752-2754)tgT>tgG	p.C918W	MATN2_ENST00000522025.2_Missense_Mutation_p.C634W|MATN2_ENST00000521689.1_Missense_Mutation_p.C899W|MATN2_ENST00000520016.1_Missense_Mutation_p.C918W|MATN2_ENST00000524308.1_Missense_Mutation_p.C877W|RPL30_ENST00000518164.1_Intron	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	918						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			AATGCAAATGTGAAAACCTTA	0.388													G	99045826	T	G	99045826	3	3	321	1	0	0	0	0	1	0	0	0	9409	1702	59	5	2820	5	MATN2	8	99045826	Missense_Mutation	SNP	T	TCGA-DB-A4XG-01A-11D-A27K-08		99045826	47318196	13	21487											
WISP1	8840	broad.mit.edu	37	chr8	134225313	134225313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgcacggaggctgccatCtgtgacccccaccggggcct	7	6	12	16	2	1	1	0	1	1	0	1	2	1	2	5	4	3	2	5	4	1	0			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr8:134225313C>T	ENST00000250160.6	+	2	382	c.276C>T	c.(274-276)atC>atT	p.I92I	WISP1_ENST00000377863.2_Intron|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000220856.6_Silent_p.I92I|WISP1_ENST00000517423.1_Silent_p.I92I	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	92	IGFBP N-terminal.				cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			AGGCTGCCATCTGTGACCCCC	0.617													T	134225313	C	T	134225313	2	4	321	1	0	0	0	0	0	0	0	1	17474	903	32	2		2	WISP1	8	134225313	Silent	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	35179487	134225313	12138709	14	21488											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123342218	123342218	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgctgagcgtcccAgggacggtgacgtcctcttc	5	8	13	15	4	1	2	0	2	1	0	4	3	3	3	3	2	3	2	3	2	0	1			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:123342218A>G	ENST00000349780.4	-	1	218	c.39T>C	c.(37-39)ccT>ccC	p.P13P	CDK5RAP2_ENST00000359309.3_Silent_p.P13P|CDK5RAP2_ENST00000360190.4_Silent_p.P13P|CDK5RAP2_ENST00000360822.3_Silent_p.P13P	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	13					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						TGAGCGTCCCAGGGACGGTGA	0.662													G	123342218	A	G	123342218	2	3	321	1	0	0	0	0	0	0	0	1	3176	175	7	3		3	CDK5RAP2	9	123342218	Silent	SNP	A	TCGA-DB-A4XG-01A-11D-A27K-08		123342218	17871213	15	21489											
NOTCH1	4851	broad.mit.edu	37	chr9	139412278	139412278	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcacgggttcgagacgCactcgttgacgtcgatctcg	6	10	13	12	7	2	2	0	1	2	1	6	4	2	2	0	2	0	4	0	2	0	2			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr9:139412278C>T	ENST00000277541.6	-	8	1442	c.1367G>A	c.(1366-1368)tGc>tAc	p.C456Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	456	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTCGAGACGCACTCGTTGAC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139412278	C	T	139412278	3	4	321	1	0	0	0	0	1	0	0	0	10623	710	25	2	6408	2	NOTCH1	9	139412278	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	16070060	139412278	1801153	16	21490											
ZNF503	84858	broad.mit.edu	37	chr10	77161101	77161106	+	In_Frame_Del	DEL	CCGCCT	CCGCCT	-																															tccaggcagggtctgcaccgCcgcctccgcctccgccgccg																								rs72126859		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr10:77161101_77161106delCCGCCT	ENST00000372524.4	-	1	558_563	c.72_77delAGGCGG	c.(70-78)ggaggcggc>ggc	p.24_26GGG>G	ZNF503_ENST00000535216.1_In_Frame_Del_p.24_26GGG>G	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	24	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GTCTGCAccgccgcctccgcctccgc	0.718													-	77161106	CCGCCT	-	77161101	7	5	321	1	0	1	0	1	0	0	0	0	18052	739	26	0	1871	0	ZNF503	10	77161101	In_Frame_Del	DEL	CCGCCT	TCGA-DB-A4XG-01A-11D-A27K-08		77161101	58373646	17	21491											
MUC5B	727897	broad.mit.edu	37	chr11	1270406	1270406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccaggaccacggccaCggccacacccagcaagaccc	11	1	8	21	2	0	1	0	0	0	1	1	2	1	2	7	3	1	1	7	3	1	0			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr11:1270406C>T	ENST00000447027.1	+	31	12363	c.12305C>T	c.(12304-12306)aCg>aTg	p.T4102M	MUC5B_ENST00000529681.1_Missense_Mutation_p.T4099M|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4099	7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCACGGCCACGGCCACACCC	0.701													T	1270406	C	T	1270406	3	4	321	1	0	0	0	0	1	0	0	0	10055	536	19	1	12427	1	MUC5B	11	1270406	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		1270406	133736110	18	21492											
VPS13C	54832	broad.mit.edu	37	chr15	62214622	62214622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcacgtcagcaacagcagCcattagagaagtccaatttt	13	10	8	10	1	2	1	2	0	0	1	3	2	3	1	2	0	4	2	2	0	4	3	rs115472982	by1000genomes	TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:62214622C>A	ENST00000261517.5	-	54	7022	c.6949G>T	c.(6949-6951)Gct>Tct	p.A2317S	VPS13C_ENST00000249837.3_Missense_Mutation_p.A2274S|VPS13C_ENST00000395896.4_Missense_Mutation_p.A2317S|VPS13C_ENST00000395898.3_Missense_Mutation_p.A2274S	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2317					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAACAGCAGCCATTAGAGAA	0.378													A	62214622	C	A	62214622	3	1	321	1	0	0	0	0	1	0	0	0	17293	739	26	4	4468	4	VPS13C	15	62214622	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		62214622	40316770	19	21493											
HERC1	8925	broad.mit.edu	37	chr15	63966612	63966612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttatagatcatggcttgcGctcgttccagatcagctaat	10	14	8	9	2	2	2	2	0	0	2	4	2	3	2	1	1	2	4	1	1	3	6			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:63966612G>A	ENST00000443617.2	-	38	7862	c.7775C>T	c.(7774-7776)gCg>gTg	p.A2592V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2592					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CATGGCTTGCGCTCGTTCCAG	0.448													A	63966612	G	A	63966612	3	1	321	1	0	0	0	0	1	0	0	0	7112	1087	38	1	6974	1	HERC1	15	63966612	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	1751990	63966612	38564780	20	21494											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	321	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	26665226	90631838	11899554	21	21495											
CDH16	1014	broad.mit.edu	37	chr16	66950296	66950296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagtcccctgacagcaCgatctggccttcagccccct	6	8	9	18	1	2	2	1	2	1	0	3	3	3	2	6	1	2	1	6	1	0	1			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr16:66950296C>T	ENST00000299752.4	-	4	359	c.166G>A	c.(166-168)Gtg>Atg	p.V56M	CDH16_ENST00000565796.1_Missense_Mutation_p.V56M|CDH16_ENST00000570262.1_Intron|CDH16_ENST00000394055.3_Missense_Mutation_p.V56M|CDH16_ENST00000568632.1_Missense_Mutation_p.V56M	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	56	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CCTGACAGCACGATCTGGCCT	0.622													T	66950296	C	T	66950296	3	4	321	1	0	0	0	0	1	0	0	0	3131	536	19	1	2383	1	CDH16	16	66950296	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		66950296	23404457	22	21496											
SEZ6	124925	broad.mit.edu	37	chr17	27283247	27283247	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggggcgggggcgggggCggggcagctgcagggagctt	4	5	25	7	3	0	0	0	0	0	0	0	1	0	1	0	9	3	5	0	9	1	2			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:27283247C>G	ENST00000317338.12	-	16	3310	c.2882G>C	c.(2881-2883)cGc>cCc	p.R961P	SEZ6_ENST00000335960.6_Silent_p.P493P|SEZ6_ENST00000442608.3_Missense_Mutation_p.R948P|SEZ6_ENST00000360295.9_Missense_Mutation_p.R961P|PIPOX_ENST00000583215.1_Intron			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	961						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			ggggcgggggcggggCAGCTG	0.582													G	27283247	C	G	27283247	3	3	321	1	0	0	0	0	1	0	0	0	14235	768	27	4	123	4	SEZ6	17	27283247	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		27283247	53911963	23	21497											
NF1	4763	broad.mit.edu	37	chr17	29665752	29665755	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															gttgcttaaaaggacctgacActtacaacagtcaagttctg																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:29665752_29665755delACTT	ENST00000358273.4	+	46	7233_7236	c.6850_6853delACTT	c.(6850-6855)acttacfs	p.TY2284fs	NF1_ENST00000444181.2_Frame_Shift_Del_p.TY77fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.TY2263fs|NF1_ENST00000417592.2_Intron	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2284					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.Y2285fs*5(6)|p.?(3)|p.Y2285fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGGACCTGACACTTACAACAGTCA	0.319			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29665755	ACTT	-	29665752	7	5	321	1	0	1	0	1	0	0	0	0	10432	159	6	0	7093	0	NF1	17	29665752	Frame_Shift_Del	DEL	ACTT	TCGA-DB-A4XG-01A-11D-A27K-08	2382505	29665752	51529458	24	21498											
SYNRG	11276	broad.mit.edu	37	chr17	35902548	35902549	+	Frame_Shift_Del	DEL	GA	GA	-																															tcctgctgagaggacaaatgGagagagttttctgccctgag																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr17:35902548_35902549delGA	ENST00000339208.6	-	15	2867_2868	c.2727_2728delTC	c.(2725-2730)tctccafs	p.P910fs	SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000585472.1_Frame_Shift_Del_p.P831fs|SYNRG_ENST00000345615.4_Frame_Shift_Del_p.P832fs|SYNRG_ENST00000346661.4_Frame_Shift_Del_p.P910fs|SYNRG_ENST00000502449.2_Intron|SYNRG_ENST00000394378.2_Frame_Shift_Del_p.P832fs	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	910					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGACAAATGGAGAGAGTTTTC	0.455													-	35902549	GA	-	35902548	7	5	321	1	0	1	0	1	0	0	0	0	15557	1174	41	0	1321	0	SYNRG	17	35902548	Frame_Shift_Del	DEL	GA	TCGA-DB-A4XG-01A-11D-A27K-08	6236796	35902548	45292662	25	21499											
C3	718	broad.mit.edu	37	chr19	6707823	6707823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacctgccctctgggCggtctgctggccactgctgc	3	9	12	17	1	3	0	1	0	2	0	3	1	3	0	4	3	4	2	4	3	0	0			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:6707823C>T	ENST00000245907.6	-	15	2055	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	655					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCCCTCTGGGCGGTCTGCTGG	0.672													T	6707823	C	T	6707823	3	4	321	1	0	0	0	0	1	0	0	0	2225	768	27	1	3136	1	C3	19	6707823	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08		6707823	52421160	26	21500											
CD209	30835	broad.mit.edu	37	chr19	7809893	7809893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggcggtgatggagtcGtgccagttccgctgggagtt	5	11	17	8	3	0	1	0	1	0	0	2	3	1	3	2	4	2	4	2	4	0	3	rs61742035		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chr19:7809893G>A	ENST00000315599.7	-	5	856	c.834C>T	c.(832-834)caC>caT	p.H278H	CD209_ENST00000315591.8_Silent_p.H254H|CD209_ENST00000301357.8_Silent_p.H142H|CD209_ENST00000394161.5_Intron|CD209_ENST00000593660.1_Silent_p.H208H|CD209_ENST00000354397.6_Silent_p.H278H|CD209_ENST00000593821.1_Silent_p.H142H|CD209_ENST00000601951.1_Silent_p.H254H|CD209_ENST00000601256.1_Silent_p.H254H|CD209_ENST00000204801.8_Silent_p.H234H|CD209_ENST00000602261.1_Silent_p.H186H|CD209_ENST00000394173.4_Silent_p.H117H	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	278	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGATGGAGTCGTGCCAGTTCC	0.587													A	7809893	G	A	7809893	2	1	321	1	0	0	0	0	0	0	0	1	3014	1136	40	1		1	CD209	19	7809893	Silent	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	1102070	7809893	51319090	27	21501											
MAP3K15	389840	broad.mit.edu	37	chrX	19380935	19380938	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															tgccgcagaagattctggtaCtctctctctttttcaactag																										TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:19380935_19380938delCTCT	ENST00000338883.4	-	26	3596_3599	c.3597_3600delAGAG	c.(3595-3600)agagagfs	p.RE1199fs	MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Del_p.RE634fs|MAP3K15_ENST00000469203.2_Frame_Shift_Del_p.RE1031fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1199							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GATTCTGGTACTCTCTCTCTTTTT	0.328													-	19380938	CTCT	-	19380935	7	5	321	1	0	1	0	1	0	0	0	0	9324	564	20	0	357	0	MAP3K15	23	19380935	Frame_Shift_Del	DEL	CTCT	TCGA-DB-A4XG-01A-11D-A27K-08		19380935	135889625	28	21502											
POF1B	79983	broad.mit.edu	37	chrX	84586012	84586012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatagatccgtattcttaCggctcagatcagcaagcaac	13	10	8	10	2	3	2	2	0	1	2	4	3	4	2	1	1	4	4	1	1	6	5			TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:84586012C>T	ENST00000262753.4	-	7	942	c.797G>A	c.(796-798)cGt>cAt	p.R266H	POF1B_ENST00000373145.3_Missense_Mutation_p.R266H	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	266							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						CGTATTCTTACGGCTCAGATC	0.383													T	84586012	C	T	84586012	3	4	321	1	0	0	0	0	1	0	0	0	12259	536	19	1	1016	1	POF1B	23	84586012	Missense_Mutation	SNP	C	TCGA-DB-A4XG-01A-11D-A27K-08	65205077	84586012	70684548	29	21503											
COL4A5	1287	broad.mit.edu	37	chrX	107823773	107823773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgcatagggacttcctgGtgaccgagggcctcctggac	7	9	13	12	1	0	1	0	1	0	0	2	4	2	3	4	4	2	1	4	4	2	3	rs104886070		TCGA-DB-A4XG-01A-11D-A27K-08	TCGA-DB-A4XG-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	512b5735-cba4-4d39-ba83-00df05dc3ce2	b62dc580-39c1-4ed8-9772-90735574c16c	g.chrX:107823773G>T	ENST00000328300.6	+	14	1035	c.791G>T	c.(790-792)gGt>gTt	p.G264V	COL4A5_ENST00000361603.2_Missense_Mutation_p.G264V	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	264	Triple-helical region.		G -> R (in APSX; adult type).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GGACTTCCTGGTGACCGAGGG	0.428									Alport syndrome with Diffuse Leiomyomatosis				T	107823773	G	T	107823773	3	4	321	1	0	0	0	0	1	0	0	0	3725	1261	44	4	845	4	COL4A5	23	107823773	Missense_Mutation	SNP	G	TCGA-DB-A4XG-01A-11D-A27K-08	23237761	107823773	47446787	30	21504											
TAS1R2	80834	broad.mit.edu	37	chr1	19168269	19168269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaggcagtcgatgcactcGaagcagcagacgtggatgcc	11	5	15	10	3	0	1	0	0	0	1	2	5	0	3	1	3	4	4	1	3	2	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:19168269G>A	ENST00000375371.3	-	5	1566	c.1545C>T	c.(1543-1545)ttC>ttT	p.F515F		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	515					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CGATGCACTCGAAGCAGCAGA	0.597													A	19168269	G	A	19168269	2	1	322	1	0	0	0	0	0	0	0	1	15660	1049	37	1		1	TAS1R2	1	19168269	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		19168269	230082352	1	21505											
MAP7D1	55700	broad.mit.edu	37	chr1	36645154	36645154	+	Frame_Shift_Del	DEL	C	C	-																															gccaacgccaacggttccagCccaggtaaagcccccattcc																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:36645154delC	ENST00000316156.4	+	13	2565	c.2112delC	c.(2110-2112)agcfs	p.S704fs	MAP7D1_ENST00000373148.4_Frame_Shift_Del_p.S278fs|MAP7D1_ENST00000373150.4_Frame_Shift_Del_p.S709fs|MAP7D1_ENST00000373151.2_Frame_Shift_Del_p.S742fs			Q3KQU3	MA7D1_HUMAN	MAP7 domain containing 1	742						cytoplasm|spindle				breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	19		Myeloproliferative disorder(586;0.0393)				ACGGTTCCAGCCCAGGTAAAG	0.617													-	36645154	C	-	36645154	7	5	322	1	0	1	0	1	0	0	0	0	9342	738	26	0	2280	0	MAP7D1	1	36645154	Frame_Shift_Del	DEL	C	TCGA-DB-A4XH-01A-11D-A27K-08	17476885	36645154	212605467	2	21506											
SDHC	6391	broad.mit.edu	37	chr1	161326623	161326623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatacctggaatgggatccGacacttggtaagttaattcg	11	12	10	8	2	1	0	1	0	0	0	3	3	2	2	2	3	1	2	2	3	4	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:161326623G>A	ENST00000367975.2	+	5	547	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.R99Q|SDHC_ENST00000392169.2_Missense_Mutation_p.R80Q|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	133					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	AATGGGATCCGACACTTGGTA	0.473			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome				A	161326623	G	A	161326623	3	1	322	1	0	0	0	0	1	0	0	0	14059	1058	37	1	416	1	SDHC	1	161326623	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	124681469	161326623	87923998	3	21507											
PARP1	142	broad.mit.edu	37	chr1	226553702	226553702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtggttgcatgagtgtTcttaacatacttcctgatga	8	16	11	6	0	1	3	0	3	1	0	2	3	2	3	1	1	3	3	1	1	2	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:226553702T>C	ENST00000366794.5	-	18	2601	c.2458A>G	c.(2458-2460)Aac>Gac	p.N820D	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	820	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCATGAGTGTTCTTAACATAC	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					C	226553702	T	C	226553702	3	2	322	1	0	0	0	0	1	0	0	0	11530	1783	62	3	610	3	PARP1	1	226553702	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	65227079	226553702	22696919	4	21508											
ZP4	57829	broad.mit.edu	37	chr1	238048465	238048465	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaagggaacatcctacCggtcccctgagggcctgttt	8	9	12	12	1	0	1	0	1	0	0	2	3	2	3	5	4	2	1	5	4	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr1:238048465C>T	ENST00000366570.4	-	9	1469	c.1311G>A	c.(1309-1311)ccG>ccA	p.P437P	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	437	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			AACATCCTACCGGTCCCCTGA	0.522													T	238048465	C	T	238048465	5	4	322	1	0	0	0	0	0	0	1	0	18317	666	23	1	327	1	ZP4	1	238048465	Splice_Site	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	11494763	238048465	11202156	5	21509											
SRBD1	55133	broad.mit.edu	37	chr2	45774700	45774700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctttattttctccgcctctCggaagccttgtccacaatgc	6	15	6	14	2	3	0	0	0	3	0	6	1	4	1	4	1	2	0	4	1	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:45774700C>T	ENST00000263736.4	-	13	1789	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.R95Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	576					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTCCGCCTCTCGGAAGCCTTG	0.333													T	45774700	C	T	45774700	3	4	322	1	0	0	0	0	1	0	0	0	15229	884	31	1	1296	1	SRBD1	2	45774700	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		45774700	197424673	6	21510											
VAMP5	10791	broad.mit.edu	37	chr2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaatagagttggagCggtgccagcagcaggcgaac	12	4	17	8	2	0	1	0	0	0	1	0	4	0	3	1	5	5	4	1	5	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602													T	85818866	C	T	85818866	3	4	322	1	0	0	0	0	1	0	0	0	17218	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	40044166	85818866	157380507	7	21511											
SLC9A2	6549	broad.mit.edu	37	chr2	103281660	103281660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgttgtgggaatcggtggGgtgctgattggcatcttctt	4	17	15	5	1	2	1	0	1	2	0	3	2	2	2	0	5	1	3	0	5	1	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:103281660G>A	ENST00000233969.2	+	3	997	c.855G>A	c.(853-855)ggG>ggA	p.G285G		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	285						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GAATCGGTGGGGTGCTGATTG	0.443													A	103281660	G	A	103281660	2	1	322	1	0	0	0	0	0	0	0	1	14806	1219	43	2		2	SLC9A2	2	103281660	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	17462794	103281660	139917713	8	21512											
CHRNA1	1134	broad.mit.edu	37	chr2	175613522	175613522	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtggagaaaaacatgAtatttgggatagtgtcgata	14	13	11	3	1	1	2	1	1	0	1	2	5	1	3	0	2	1	0	0	2	5	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:175613522A>G	ENST00000348749.5	-	8	1105	c.1028T>C	c.(1027-1029)aTc>aCc	p.I343T	CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.I261T|CHRNA1_ENST00000261007.5_Missense_Mutation_p.I368T	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	368					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAAAAACATGATATTTGGGAT	0.348											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	175613522	A	G	175613522	3	3	322	1	0	0	0	0	1	0	0	0	3411	333	12	3	353	3	CHRNA1	2	175613522	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	72331862	175613522	67585851	9	21513											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	322	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	33499590	209113112	34086261	10	21514											
PIKFYVE	200576	broad.mit.edu	37	chr2	209200822	209200823	+	In_Frame_Ins	INS	-	-	GTCTTC																															aagatgcaagcaaggctcatINSgtcttcctctgtagataccc																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:209200822_209200823insGTCTTC	ENST00000264380.4	+	27	4576_4577	c.4418_4419insGTCTTC	c.(4417-4422)atgtct>atGTCTTCgtct	p.1476_1477insSS	PIKFYVE_ENST00000474721.1_3'UTR	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	1476					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GCAAGGCTCATGTCTTCCTCTG	0.441													GTCTTC	209200823	-	GTCTTC	209200822	7	5	322	1	0	1	1	0	0	0	0	0	12001	1464	51	0	4531	0	PIKFYVE	2	209200822	In_Frame_Ins	INS	-	TCGA-DB-A4XH-01A-11D-A27K-08	87710	209200822	33998551	11	21515											
C2orf54	79919	broad.mit.edu	37	chr2	241828002	241828002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcaggcggtacacggCgccctgcagttctgcccagt	7	6	12	16	3	1	0	0	0	1	0	1	0	1	0	3	3	4	4	3	3	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr2:241828002C>T	ENST00000307486.8	-	4	609	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	C2orf54_ENST00000402775.2_Missense_Mutation_p.A152T|C2orf54_ENST00000388934.4_Missense_Mutation_p.A320T	NM_001282921.1	NP_001269850.1	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	320										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CGGTACACGGCGCCCTGCAGT	0.697													T	241828002	C	T	241828002	3	4	322	1	0	0	0	0	1	0	0	0	2196	768	27	1	393	1	C2orf54	2	241828002	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	32627180	241828002	1371371	12	21516											
TRANK1	9881	broad.mit.edu	37	chr3	36874112	36874112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggattcccggcggttgCgtgcgctttcattttcaaac	5	14	11	11	4	2	0	2	0	0	0	3	1	3	1	1	3	3	2	1	3	1	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:36874112C>T	ENST00000301807.6	-	21	7077	c.5180G>A	c.(5179-5181)cGc>cAc	p.R1727H	TRANK1_ENST00000428977.2_Missense_Mutation_p.R1727H|TRANK1_ENST00000429976.2_Missense_Mutation_p.R2277H			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	2277					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCGGCGGTTGCGTGCGCTTTC	0.478													T	36874112	C	T	36874112	3	4	322	1	0	0	0	0	1	0	0	0	16555	768	27	1	1959	1	TRANK1	3	36874112	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		36874112	161148318	13	21517											
KLHL18	23276	broad.mit.edu	37	chr3	47384261	47384261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgctgctggggttacaGtctttgagggcaggatatat	8	12	15	6	0	1	1	0	1	1	0	1	2	1	2	0	4	3	5	0	4	3	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:47384261G>A	ENST00000232766.5	+	9	1299	c.1279G>A	c.(1279-1281)Gtc>Atc	p.V427I	KLHL18_ENST00000455924.2_Missense_Mutation_p.V315I	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	427										endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGGGGTTACAGTCTTTGAGGG	0.522													A	47384261	G	A	47384261	3	1	322	1	0	0	0	0	1	0	0	0	8431	1029	36	2	1313	2	KLHL18	3	47384261	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	10510149	47384261	150638169	14	21518											
UQCRC1	7384	broad.mit.edu	37	chr3	48636583	48636583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagcgcagccagaacatgCcgctacggatccggttgtag	11	6	13	11	4	0	2	0	0	0	2	1	3	1	3	3	2	5	4	3	2	4	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48636583C>T	ENST00000203407.5	-	13	1837	c.1421G>A	c.(1420-1422)gGc>gAc	p.G474D		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	474					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	CCAGAACATGCCGCTACGGAT	0.637													T	48636583	C	T	48636583	3	4	322	1	0	0	0	0	1	0	0	0	17121	739	26	2	25	2	UQCRC1	3	48636583	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	1252322	48636583	149385847	15	21519											
CELSR3	1951	broad.mit.edu	37	chr3	48690585	48690585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggaagcacggcccgagccCctggtcactgtcacagacag	9	5	13	14	2	2	1	2	0	0	1	2	3	2	2	3	3	2	1	3	3	1	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:48690585C>T	ENST00000544264.1	-	10	5764	c.5484G>A	c.(5482-5484)agG>agA	p.R1828R	CELSR3_ENST00000164024.4_Silent_p.R1828R			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1828	Laminin G-like 2.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCGAGCCCCTGGTCACTG	0.617													T	48690585	C	T	48690585	2	4	322	1	0	0	0	0	0	0	0	1	3253	622	22	2		2	CELSR3	3	48690585	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	54002	48690585	149331845	16	21520											
OR5H2	79310	broad.mit.edu	37	chr3	98001915	98001915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgacccacaacttcacAtccccatgtacttttttctt	10	14	4	13	0	2	1	1	1	1	0	3	2	3	2	3	1	2	1	3	1	3	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:98001915A>G	ENST00000355273.2	+	1	184	c.184A>G	c.(184-186)Atc>Gtc	p.I62V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAACTTCACATCCCCATGTA	0.413													G	98001915	A	G	98001915	3	3	322	1	0	0	0	0	1	0	0	0	11238	217	8	3	186	3	OR5H2	3	98001915	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	49311330	98001915	100020515	17	21521											
ZBTB20	26137	broad.mit.edu	37	chr3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaggcgcatgtgcacgTtgagggagctcttctgggtg	5	10	19	7	2	2	1	0	1	2	0	2	3	2	3	0	5	2	4	0	5	0	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:114058129T>C	ENST00000462705.1	-	12	2551	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													C	114058129	T	C	114058129	3	2	322	1	0	0	0	0	1	0	0	0	17630	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	16056214	114058129	83964301	18	21522											
BCL6	604	broad.mit.edu	37	chr3	187447676	187447676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctgctctcacacccagGggcgctcctcagtggcaggt	5	8	13	15	1	3	0	2	0	2	0	5	0	4	0	2	5	1	4	2	5	0	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr3:187447676G>A	ENST00000406870.2	-	5	883	c.517C>T	c.(517-519)Cct>Tct	p.P173S	BCL6_ENST00000232014.4_Missense_Mutation_p.P173S|BCL6_ENST00000450123.2_Missense_Mutation_p.P173S|RP11-211G3.3_ENST00000437407.1_Intron|RP11-211G3.3_ENST00000449623.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	173					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		TCACACCCAGGGGCGCTCCTC	0.602			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								A	187447676	G	A	187447676	3	1	322	1	0	0	0	0	1	0	0	0	1381	1232	43	2	1627	2	BCL6	3	187447676	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	73389547	187447676	10574754	19	21523											
NAT8L	339983	broad.mit.edu	37	chr4	2065803	2065803	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcgctggctgagcgcctCttcttccaggtccgctacca	4	11	9	17	3	3	1	0	1	3	0	6	1	5	1	4	2	2	3	4	2	1	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:2065803C>G	ENST00000423729.2	+	3	858	c.858C>G	c.(856-858)ctC>ctG	p.L286L	NAT8L_ENST00000331662.3_Silent_p.L118L	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	286						integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			CTGAGCGCCTCTTCTTCCAGG	0.711													G	2065803	C	G	2065803	2	3	322	1	0	0	0	0	0	0	0	1	10257	900	32	4		4	NAT8L	4	2065803	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		2065803	189088473	20	21524											
OTOP1	133060	broad.mit.edu	37	chr4	4199453	4199453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtctatcctgtaaatccGgattccagccagccccgcag	8	9	8	16	3	1	0	0	0	1	0	5	1	4	1	6	1	2	2	6	1	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:4199453G>A	ENST00000296358.4	-	5	1132	c.1108C>T	c.(1108-1110)Cgg>Tgg	p.R370W		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	370					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTGTAAATCCGGATTCCAGCC	0.582													A	4199453	G	A	4199453	3	1	322	1	0	0	0	0	1	0	0	0	11381	1115	39	1	738	1	OTOP1	4	4199453	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	2133650	4199453	186954823	21	21525											
SLC10A4	201780	broad.mit.edu	37	chr4	48485844	48485844	+	Frame_Shift_Del	DEL	G	G	-																															ttccccgttccctcggccctGggcgccccacgcgctcccgt																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr4:48485844delG	ENST00000273861.4	+	1	485	c.266delG	c.(265-267)tggfs	p.W89fs		NM_152679.3	NP_689892.1	Q96EP9	NTCP4_HUMAN	solute carrier family 10, member 4	89						integral to membrane	bile acid:sodium symporter activity			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	6						CCTCGGCCCTGGGCGCCCCAC	0.756													-	48485844	G	-	48485844	7	5	322	1	0	1	0	1	0	0	0	0	14470	1357	47	0	268	0	SLC10A4	4	48485844	Frame_Shift_Del	DEL	G	TCGA-DB-A4XH-01A-11D-A27K-08	44286391	48485844	142668432	22	21526											
SLC12A7	10723	broad.mit.edu	37	chr5	1081825	1081825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctttcttctccacaaaCgcccccgcgtgcgcgtacgt	7	9	7	18	6	2	0	0	0	2	0	3	0	2	0	4	0	3	1	4	0	2	3	rs138705098		TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:1081825C>T	ENST00000264930.5	-	9	1207	c.1164G>A	c.(1162-1164)gcG>gcA	p.A388A		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	388					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)	TCTCCACAAACGCCCCCGCGT	0.662													T	1081825	C	T	1081825	2	4	322	1	0	0	0	0	0	0	0	1	14482	523	19	1		1	SLC12A7	5	1081825	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		1081825	179833435	23	21527											
CDH6	1004	broad.mit.edu	37	chr5	31323107	31323107	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatagaggacaacaaattaCgaagggacattgtgcccgaa	16	6	10	9	2	0	1	0	0	0	1	0	5	0	3	2	2	3	0	2	2	6	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr5:31323107C>T	ENST00000265071.2	+	12	2330	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	689					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CAACAAATTACGAAGGGACAT	0.502													T	31323107	C	T	31323107	4	4	322	1	0	0	0	0	0	1	0	0	3144	528	19	1	2107	1	CDH6	5	31323107	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	30241282	31323107	149592153	24	21528											
CDC5L	988	broad.mit.edu	37	chr6	44387260	44387260	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaataccccattgcatgaGagtgacttctcaggtgtaac	11	12	8	10	0	1	2	1	2	1	1	2	3	1	2	2	1	3	2	2	1	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr6:44387260G>C	ENST00000371477.3	+	9	1466	c.1167G>C	c.(1165-1167)gaG>gaC	p.E389D		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	389	Interaction with PPP1R8.				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CATTGCATGAGAGTGACTTCT	0.438													C	44387260	G	C	44387260	3	2	322	1	0	0	0	0	1	0	0	0	3112	933	33	4	1201	4	CDC5L	6	44387260	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		44387260	126727807	25	21529											
TPST1	8460	broad.mit.edu	37	chr7	65705779	65705779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaagtaaagagaagatcCgcctggatgaggctggtgtt	11	9	15	6	1	1	3	1	1	0	2	2	5	2	4	2	4	0	3	2	4	4	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr7:65705779C>T	ENST00000304842.5	+	2	792	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	123					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						AGAGAAGATCCGCCTGGATGA	0.512													T	65705779	C	T	65705779	3	4	322	1	0	0	0	0	1	0	0	0	16528	652	23	1	369	1	TPST1	7	65705779	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		65705779	93432884	26	21530											
SNX31	169166	broad.mit.edu	37	chr8	101589305	101589308	+	Splice_Site	DEL	TAGA	TAGA	-																															gttccggaacttcaatctgcTagatagattagtgaaatgtc																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr8:101589305_101589308delTAGA	ENST00000311812.2	-	13	1321		c.e13-2		SNX31_ENST00000428383.2_Splice_Site	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31						cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTCAATCTGCTAGATAGATTAGTG	0.363													-	101589308	TAGA	-	101589305	8	5	322	1	0	1	0	1	0	0	1	0	14995	1536	53	0	161	0	SNX31	8	101589305	Splice_Site	DEL	TAGA	TCGA-DB-A4XH-01A-11D-A27K-08		101589305	44774717	27	21531											
AQP3	360	broad.mit.edu	37	chr9	33442299	33442299	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgggggctgtactcacGtgaagactgcagagccccag	8	7	16	10	1	1	3	1	1	0	2	1	3	1	3	2	3	3	3	2	3	2	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:33442299G>A	ENST00000297991.4	-	5	790	c.710C>T	c.(709-711)aCg>aTg	p.T237M	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	237					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CTGTACTCACGTGAAGACTGC	0.657													A	33442299	G	A	33442299	5	1	322	1	0	0	0	0	0	0	1	0	830	1159	40	1	176	1	AQP3	9	33442299	Splice_Site	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		33442299	107771132	28	21532											
COL27A1	85301	broad.mit.edu	37	chr9	116931263	116931263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccggcctctgcccgcacCagcacccacaaacctccccc	9	3	6	23	2	1	0	0	0	1	0	2	0	2	0	8	1	4	2	8	1	2	0			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr9:116931263C>T	ENST00000356083.3	+	3	1819	c.1428C>T	c.(1426-1428)acC>acT	p.T476T		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	476	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CTGCCCGCACCAGCACCCACA	0.567													T	116931263	C	T	116931263	2	4	322	1	0	0	0	0	0	0	0	1	3716	581	21	2		2	COL27A1	9	116931263	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	83488964	116931263	24282168	29	21533											
MYO3A	53904	broad.mit.edu	37	chr10	26500781	26500781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacttgcaggtgctgggcGgcggagagccccgagaagga	8	6	17	10	3	1	2	1	0	0	2	1	5	1	3	2	5	3	2	2	5	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:26500781G>A	ENST00000543632.1	+	17	1846	c.1786G>A	c.(1786-1788)Ggc>Agc	p.G596S	MYO3A_ENST00000265944.5_Silent_p.A1580A			Q8NEV4	MYO3A_HUMAN	myosin IIIA	0	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GGTGCTGGGCGGCGGAGAGCC	0.662													A	26500781	G	A	26500781	3	1	322	1	0	0	0	0	1	0	0	0	10152	1103	39	1	4870	1	MYO3A	10	26500781	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		26500781	109033966	30	21534											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430910	37430910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacacctagggaaattaCgagtcctgcaaaagaaacat	19	6	8	8	1	0	2	0	0	0	2	1	4	1	3	2	1	4	1	2	1	7	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr10:37430910C>T	ENST00000374660.1	+	7	1016	c.917C>T	c.(916-918)aCg>aTg	p.T306M	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T306M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T306M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	362						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGGGAAATTACGAGTCCTGCA	0.433													T	37430910	C	T	37430910	3	4	322	1	0	0	0	0	1	0	0	0	658	536	19	1	943	1	ANKRD30A	10	37430910	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	10930129	37430910	98103837	31	21535											
F2	2147	broad.mit.edu	37	chr11	46747678	46747678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggcgtgtggtgctatgtgGccgggaagcctggcgacttt	5	10	18	8	3	0	0	0	0	0	0	0	2	0	1	2	5	2	1	2	5	2	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr11:46747678G>C	ENST00000311907.5	+	7	885	c.829G>C	c.(829-831)Gcc>Ccc	p.A277P	F2_ENST00000530231.1_Missense_Mutation_p.A277P	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	277	Kringle 2.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	GTGCTATGTGGCCGGGAAGCC	0.597													C	46747678	G	C	46747678	3	2	322	1	0	0	0	0	1	0	0	0	5384	1203	42	4	855	4	F2	11	46747678	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		46747678	88258838	32	21536											
ITPR2	3709	broad.mit.edu	37	chr12	26639240	26639240	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggatgttgctgaagaagCttctgttaattgccctttca	8	17	9	7	0	2	2	1	1	1	1	2	3	2	3	1	1	3	4	1	1	3	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:26639240C>G	ENST00000381340.3	-	41	6024	c.5608G>C	c.(5608-5610)Gct>Cct	p.A1870P		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1870					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GCTGAAGAAGCTTCTGTTAAT	0.363													G	26639240	C	G	26639240	3	3	322	1	0	0	0	0	1	0	0	0	7979	797	28	4	2565	4	ITPR2	12	26639240	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		26639240	107212655	33	21537											
ABCD2	225	broad.mit.edu	37	chr12	39947886	39947886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtatccaattgttcaaagCgccaacctccttcaccatca	12	10	4	15	1	3	0	3	0	0	0	5	0	5	0	5	0	2	2	5	0	4	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:39947886C>T	ENST00000308666.3	-	10	2186	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	684	ABC transporter.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding	p.R684H(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						TTGTTCAAAGCGCCAACCTCC	0.348													T	39947886	C	T	39947886	3	4	322	1	0	0	0	0	1	0	0	0	61	768	27	1	175	1	ABCD2	12	39947886	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	13308646	39947886	93904009	34	21538											
DCN	1634	broad.mit.edu	37	chr12	91546926	91546926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaactctgctgattttGttgccatcaagatgtaattc	10	15	7	9	0	3	2	2	1	1	1	4	2	3	2	1	0	3	4	1	0	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr12:91546926G>A	ENST00000052754.5	-	6	1194	c.693C>T	c.(691-693)aaC>aaT	p.N231N	DCN_ENST00000420120.2_Silent_p.N122N|DCN_ENST00000425043.1_Silent_p.N84N|DCN_ENST00000228329.5_Silent_p.N122N|DCN_ENST00000552962.1_Silent_p.N231N|DCN_ENST00000303320.3_Intron|DCN_ENST00000393155.1_Silent_p.N231N|DCN_ENST00000456569.2_Intron|DCN_ENST00000441303.2_Intron|DCN_ENST00000547568.2_Silent_p.N84N	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	231					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						TGCTGATTTTGTTGCCATCAA	0.358													A	91546926	G	A	91546926	2	1	322	1	0	0	0	0	0	0	0	1	4331	1368	48	2		2	DCN	12	91546926	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	51599040	91546926	42304969	35	21539											
LATS2	26524	broad.mit.edu	37	chr13	21563346	21563346	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccgaagcttgggccctcGtagggggtaccgctcagctg	5	7	16	13	4	1	0	1	0	0	0	2	1	1	0	3	3	3	5	3	3	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:21563346G>A	ENST00000382592.4	-	4	978	c.573C>T	c.(571-573)taC>taT	p.Y191Y	LATS2_ENST00000472754.1_5'UTR|LATS2_ENST00000542899.1_Silent_p.Y191Y	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	191					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		TTGGGCCCTCGTAGGGGGTAC	0.687													A	21563346	G	A	21563346	2	1	322	1	0	0	0	0	0	0	0	1	8706	1140	40	1		1	LATS2	13	21563346	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		21563346	93606532	36	21540											
PAN3	255967	broad.mit.edu	37	chr13	28713125	28713125	+	Frame_Shift_Del	DEL	C	C	-																															cgggcgggggagctgggccgCcccccgggcccaagaagccg																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr13:28713125delC	ENST00000380958.3	+	1	483	c.331delC	c.(331-333)cccfs	p.P112fs		NM_175854.7	NP_787050.6	Q58A45	PAN3_HUMAN	PAN3 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	112	Interaction with polyadenylate-binding protein.				nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening	centrosome|cytosol	ATP binding|protein kinase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)	Colorectal(13;0.000334)	all cancers(112;0.0102)|Epithelial(112;0.0803)|GBM - Glioblastoma multiforme(144;0.121)|OV - Ovarian serous cystadenocarcinoma(117;0.13)|Lung(94;0.174)		AGCTGGGCCGCCCCCCGGGCC	0.771													-	28713125	C	-	28713125	7	5	322	1	0	1	0	1	0	0	0	0	11491	739	26	0	333	0	PAN3	13	28713125	Frame_Shift_Del	DEL	C	TCGA-DB-A4XH-01A-11D-A27K-08	7149779	28713125	86456753	37	21541											
RNF31	55072	broad.mit.edu	37	chr14	24619440	24619440	+	Missense_Mutation	SNP	G	G	T																															tgtggcctgtgatcggccccGaggctgtaaggggttggggt																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619440G>T	ENST00000324103.6	+	7	1300	c.980G>T	c.(979-981)cGa>cTa	p.R327L	RNF31_ENST00000382687.3_Missense_Mutation_p.R176L|RNF31_ENST00000559275.1_Missense_Mutation_p.R176L	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	327	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		GATCGGCCCCGAGGCTGTAAG	0.607													T	24619440	G	T	24619440	3	4	322	1	0	0	0	0	1	0	0	0	13578	1058	37	4	1006	4	RNF31	14	24619440	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		24619440	82730100	38	21542	30	2									
RNF31	55072	broad.mit.edu	37	chr14	24619441	24619441	+	Silent	SNP	A	A	T																															gtggcctgtgatcggccccgAggctgtaaggggttggggtt																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:24619441A>T	ENST00000324103.6	+	7	1301	c.981A>T	c.(979-981)cgA>cgT	p.R327R	RNF31_ENST00000382687.3_Silent_p.R176R|RNF31_ENST00000559275.1_Silent_p.R176R	NM_017999.4	NP_060469.4	Q96EP0	RNF31_HUMAN	ring finger protein 31	327	Polyubiquitin-binding.				CD40 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein linear polyubiquitination|T cell receptor signaling pathway	CD40 receptor complex|internal side of plasma membrane|LUBAC complex	ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(4)|skin(2)|soft_tissue(1)	39				GBM - Glioblastoma multiforme(265;0.00861)		ATCGGCCCCGAGGCTGTAAGG	0.607													T	24619441	A	T	24619441	2	4	322	1	0	0	0	0	0	0	0	1	13578	291	11	5		5	RNF31	14	24619441	Silent	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	1	24619441	82730099	39	21543	30	2									
TBPL2	387332	broad.mit.edu	37	chr14	55907119	55907119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcggcagcctcacctgagCggcgcactggtccaggtaga	7	6	15	13	3	1	2	1	1	0	1	2	2	2	2	3	5	2	3	3	5	1	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:55907119C>T	ENST00000247219.5	-	1	215	c.145G>A	c.(145-147)Gct>Act	p.A49T		NM_199047.2	NP_950248.1	Q6SJ96	TBPL2_HUMAN	TATA box binding protein like 2	49					multicellular organismal development|transcription initiation from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTCACCTGAGCGGCGCACTGG	0.622													T	55907119	C	T	55907119	3	4	322	1	0	0	0	0	1	0	0	0	15746	768	27	1	1010	1	TBPL2	14	55907119	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	31287678	55907119	51442421	40	21544											
SPTB	6710	broad.mit.edu	37	chr14	65260496	65260496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctccagttgggccttccGcccagctgccatgttgctca	4	11	10	16	1	1	0	1	0	0	0	3	0	3	0	5	1	4	5	5	1	0	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:65260496G>A	ENST00000389722.3	-	13	1938	c.1885C>T	c.(1885-1887)Cgg>Tgg	p.R629W	SPTB_ENST00000556626.1_Missense_Mutation_p.R629W|SPTB_ENST00000542895.1_Missense_Mutation_p.R629W|SPTB_ENST00000389720.3_Missense_Mutation_p.R629W|SPTB_ENST00000389721.5_Missense_Mutation_p.R629W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	629				RKA -> ART (in Ref. 1; AAA60578/ AAA60579).	actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGGGCCTTCCGCCCAGCTGCC	0.552													A	65260496	G	A	65260496	3	1	322	1	0	0	0	0	1	0	0	0	15214	1086	38	1	5262	1	SPTB	14	65260496	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	9353377	65260496	42089044	41	21545											
SETD3	84193	broad.mit.edu	37	chr14	99865139	99865139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagggatagagttttcaccGtttacaagcccgttttctgt	8	16	9	8	2	2	1	1	0	1	1	2	2	2	2	2	1	2	3	2	1	4	8			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr14:99865139G>A	ENST00000331768.5	-	13	1821	c.1662C>T	c.(1660-1662)aaC>aaT	p.N554N		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	554					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AGTTTTCACCGTTTACAAGCC	0.468													A	99865139	G	A	99865139	2	1	322	1	0	0	0	0	0	0	0	1	14225	1136	40	1		1	SETD3	14	99865139	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	34604643	99865139	7484401	42	21546											
SMAD6	4091	broad.mit.edu	37	chr15	67073541	67073541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcgaacgcgcagcaagAtcggcttcggcatcctgctc	7	7	13	14	6	0	1	0	0	0	1	4	2	1	1	1	3	4	5	1	3	2	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr15:67073541A>T	ENST00000288840.5	+	4	2190	c.1159A>T	c.(1159-1161)Atc>Ttc	p.I387F	SMAD6_ENST00000338426.4_Missense_Mutation_p.I126F	NM_005585.4	NP_005576.3	O43541	SMAD6_HUMAN	SMAD family member 6	387	MH2.				BMP signaling pathway|immune response|negative regulation of apoptosis|negative regulation of BMP signaling pathway|negative regulation of caspase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of SMAD protein complex assembly|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of S phase of mitotic cell cycle|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	cytosol|transcription factor complex	co-SMAD binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I activin receptor binding|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			lung(1)|skin(1)	2						GCGCAGCAAGATCGGCTTCGG	0.672													T	67073541	A	T	67073541	3	4	322	1	0	0	0	0	1	0	0	0	14856	333	12	5	1211	5	SMAD6	15	67073541	Missense_Mutation	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08		67073541	35457851	43	21547											
ADCY9	115	broad.mit.edu	37	chr16	4016491	4016491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgttcagccctgacgccGccatgtacgtggctccgatg	5	9	13	14	5	1	1	1	1	0	0	2	2	2	1	4	2	2	3	4	2	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:4016491G>A	ENST00000294016.3	-	11	3885	c.3347C>T	c.(3346-3348)gCg>gTg	p.A1116V		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1116	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCTGACGCCGCCATGTACGT	0.622													A	4016491	G	A	4016491	3	1	322	1	0	0	0	0	1	0	0	0	301	1087	38	1	718	1	ADCY9	16	4016491	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		4016491	86338262	44	21548											
PHKB	5257	broad.mit.edu	37	chr16	47730353	47730353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccttgttgaagacaCgttgggaaatattgaccagc	10	12	9	10	1	1	3	0	2	1	1	3	4	2	4	2	1	1	2	2	1	3	5			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:47730353C>A	ENST00000455779.1	+	30	3121	c.2936C>A	c.(2935-2937)aCg>aAg	p.T979K	PHKB_ENST00000566044.1_Missense_Mutation_p.T979K|PHKB_ENST00000323584.5_Missense_Mutation_p.T986K|PHKB_ENST00000299167.8_Missense_Mutation_p.T986K			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	986					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GTTGAAGACACGTTGGGAAAT	0.408													A	47730353	C	A	47730353	3	1	322	1	0	0	0	0	1	0	0	0	11922	536	19	4	3225	4	PHKB	16	47730353	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	43713862	47730353	42624400	45	21549											
CCDC135	84229	broad.mit.edu	37	chr16	57731885	57731887	+	In_Frame_Del	DEL	GGA	GGA	-																															gaggtcctgagggagaaggtGgaggaggaggaggaggccga																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:57731885_57731887delGGA	ENST00000360716.3	+	3	245_247	c.24_26delGGA	c.(22-27)gtggag>gtg	p.E13del	CCDC135_ENST00000394337.4_In_Frame_Del_p.E13del|CCDC135_ENST00000336825.8_In_Frame_Del_p.E13del|RP11-405F3.4_ENST00000563062.1_RNA			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	13						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						Gggagaaggtggaggaggaggag	0.591													-	57731887	GGA	-	57731885	7	5	322	1	0	1	0	1	0	0	0	0	2795	1335	47	0	26	0	CCDC135	16	57731885	In_Frame_Del	DEL	GGA	TCGA-DB-A4XH-01A-11D-A27K-08	10001532	57731885	32622868	46	21550											
CES2	8824	broad.mit.edu	37	chr16	66977769	66977770	+	Frame_Shift_Ins	INS	-	-	T																															atggcgagggtctgccacacINStggccgctgttcgaccagga																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr16:66977769_66977770insT	ENST00000317091.4	+	12	2697_2698	c.1713_1714insT	c.(1714-1716)tggfs	p.W572fs	CES2_ENST00000417689.1_Frame_Shift_Ins_p.W556fs|RP11-361L15.4_ENST00000566869.1_RNA	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	508					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTCTGCCACACTGGCCGCTGTT	0.634													T	66977770	-	T	66977769	7	5	322	1	0	1	1	0	0	0	0	0	3300	564	20	0	1759	0	CES2	16	66977769	Frame_Shift_Ins	INS	-	TCGA-DB-A4XH-01A-11D-A27K-08	9245884	66977769	23376984	47	21551											
WDR7	23335	broad.mit.edu	37	chr18	54446754	54446754	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctggagatgctggccCgaagatggcaagatcgatgc	9	8	13	11	2	1	3	0	0	1	3	2	6	1	3	2	3	2	2	2	3	2	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr18:54446754C>T	ENST00000254442.3	+	18	3251	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Nonsense_Mutation_p.R981*	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1014								p.R1014R(1)		NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GATGCTGGCCCGAAGATGGCA	0.413													T	54446754	C	T	54446754	4	4	322	1	0	0	0	0	0	1	0	0	17422	644	23	1	3106	1	WDR7	18	54446754	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		54446754	23630494	48	21552											
OR1M1	125963	broad.mit.edu	37	chr19	9204546	9204546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggatggtgatagccaCgccctttgtctgcatcctgg	6	10	14	11	1	1	1	0	1	1	0	2	2	2	2	3	4	2	2	3	4	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:9204546C>T	ENST00000429566.3	+	1	692	c.626C>T	c.(625-627)aCg>aTg	p.T209M		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTGATAGCCACGCCCTTTGTC	0.567													T	9204546	C	T	9204546	3	4	322	1	0	0	0	0	1	0	0	0	11044	536	19	1	628	1	OR1M1	19	9204546	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		9204546	49924437	49	21553											
CYP4F12	66002	broad.mit.edu	37	chr19	15791259	15791259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccaccgtcggatgctgaCgcccgccttccatttcaaca	7	8	8	18	5	1	1	1	1	0	0	3	2	2	2	6	1	2	1	6	1	1	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:15791259C>T	ENST00000550308.1	+	5	835	c.455C>T	c.(454-456)aCg>aTg	p.T152M	CYP4F12_ENST00000324632.10_Missense_Mutation_p.T152M	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12									p.T152M(2)		NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					CGGATGCTGACGCCCGCCTTC	0.542													T	15791259	C	T	15791259	3	4	322	1	0	0	0	0	1	0	0	0	4220	536	19	1	469	1	CYP4F12	19	15791259	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	6586713	15791259	43337724	50	21554											
HIPK4	147746	broad.mit.edu	37	chr19	40895408	40895408	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcaggcttgagatcagcGtggatgatagccagctcctt	8	12	11	10	1	2	2	2	2	1	1	4	4	3	3	2	2	3	2	2	2	1	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:40895408G>A	ENST00000291823.2	-	1	686	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	134	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			TGAGATCAGCGTGGATGATAG	0.627													A	40895408	G	A	40895408	2	1	322	1	0	0	0	0	0	0	0	1	7174	1136	40	1		1	HIPK4	19	40895408	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	25104149	40895408	18233575	51	21555											
NDUFA3	4696	broad.mit.edu	37	chr19	54610132	54610135	+	Frame_Shift_Del	DEL	GATG	GATG	-																															ccacagtgcccgtccgtgatGatgggaacatgcccgacgtg																										TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr19:54610132_54610135delGATG	ENST00000485876.1	+	4	220_223	c.178_181delGATG	c.(178-183)gatgggfs	p.DG60fs	NDUFA3_ENST00000391764.3_Intron|NDUFA3_ENST00000303553.5_Frame_Shift_Del_p.DG17fs|NDUFA3_ENST00000391762.1_3'UTR|NDUFA3_ENST00000391763.3_3'UTR			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	CGTCCGTGATGATGGGAACATGCC	0.642													-	54610135	GATG	-	54610132	7	5	322	1	0	1	0	1	0	0	0	0	10341	1290	45	0	192	0	NDUFA3	19	54610132	Frame_Shift_Del	DEL	GATG	TCGA-DB-A4XH-01A-11D-A27K-08	13714724	54610132	4518851	52	21556											
PAK7	57144	broad.mit.edu	37	chr20	9561502	9561502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagggagttggagcgagtcaCcgagatgttgtcaaaatcct	11	10	13	7	2	2	1	2	0	0	1	3	5	3	3	2	2	1	2	2	2	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:9561502C>T	ENST00000378429.3	-	5	826	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	PAK7_ENST00000378423.1_Missense_Mutation_p.V94M|PAK7_ENST00000353224.5_Missense_Mutation_p.V94M	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	94	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			GAGCGAGTCACCGAGATGTTG	0.517													T	9561502	C	T	9561502	3	4	322	1	0	0	0	0	1	0	0	0	11481	507	18	2	1907	2	PAK7	20	9561502	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		9561502	53464018	53	21557											
SSTR4	6754	broad.mit.edu	37	chr20	23016949	23016949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggatgcctttctacGtggtgcagctgctgaacctc	5	13	11	12	1	2	1	0	1	2	0	3	2	2	2	2	2	7	4	2	2	2	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:23016949G>A	ENST00000255008.3	+	1	893	c.829G>A	c.(829-831)Gtg>Atg	p.V277M	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	277					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCCTTTCTACGTGGTGCAGCT	0.587													A	23016949	G	A	23016949	3	1	322	1	0	0	0	0	1	0	0	0	15296	1145	40	1	831	1	SSTR4	20	23016949	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	13455447	23016949	40008571	54	21558											
TUBB1	81027	broad.mit.edu	37	chr20	57597953	57597953	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttggctgggagcgaccgCggggcctcggccttgcagct	4	7	17	13	4	0	0	0	0	0	0	1	3	0	1	3	5	3	3	3	5	0	2	rs150453159	byFrequency	TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr20:57597953C>T	ENST00000217133.1	+	2	380	c.111C>T	c.(109-111)cgC>cgT	p.R37R		NM_030773.3	NP_110400.1	Q9H4B7	TBB1_HUMAN	tubulin, beta 1 class VI	37					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|skin(2)	16	all_lung(29;0.00711)		Colorectal(105;0.109)		Colchicine(DB01394)|Docetaxel(DB01248)|Paclitaxel(DB01229)|Vindesine(DB00309)	GGAGCGACCGCGGGGCCTCGG	0.597													T	57597953	C	T	57597953	2	4	322	1	0	0	0	0	0	0	0	1	16855	755	27	1		1	TUBB1	20	57597953	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	34581004	57597953	5427567	55	21559											
ASPHD2	57168	broad.mit.edu	37	chr22	26830386	26830386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaatgtttttgggaacGcgtgcatctctgtgctgagc	8	12	13	8	2	1	1	0	1	1	0	2	3	1	3	0	2	5	3	0	2	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chr22:26830386G>A	ENST00000215906.5	+	2	1243	c.805G>A	c.(805-807)Gcg>Acg	p.A269T		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	269					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity	p.A243T(1)		endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						TTTTGGGAACGCGTGCATCTC	0.547													A	26830386	G	A	26830386	3	1	322	1	0	0	0	0	1	0	0	0	1060	1087	38	1	807	1	ASPHD2	22	26830386	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08		26830386	24474180	56	21560											
PDHA1	5160	broad.mit.edu	37	chrX	19368154	19368154	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgatgcagactgtacgcCgaatggagttgaaagcagat	13	8	14	6	2	0	4	0	2	0	2	0	7	0	6	1	2	3	4	1	2	3	2			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:19368154C>T	ENST00000379806.5	+	4	476	c.331C>T	c.(331-333)Cga>Tga	p.R111*	PDHA1_ENST00000422285.2_Nonsense_Mutation_p.R73*|PDHA1_ENST00000540249.1_Nonsense_Mutation_p.R73*|PDHA1_ENST00000545074.1_Nonsense_Mutation_p.R73*|PDHA1_ENST00000379805.3_Nonsense_Mutation_p.R73*	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	73					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GACTGTACGCCGAATGGAGTT	0.483													T	19368154	C	T	19368154	4	4	322	1	0	0	0	0	0	1	0	0	11740	644	23	1	345	1	PDHA1	23	19368154	Nonsense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08		19368154	135902406	57	21561											
PPP1R3F	89801	broad.mit.edu	37	chrX	49126932	49126932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagcgcgctacgtcccGcgcagcccgccgtgggcagg	5	3	14	19	7	0	0	0	0	0	0	1	0	1	0	4	2	3	3	4	2	1	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:49126932G>A	ENST00000055335.6	+	1	616	c.600G>A	c.(598-600)ccG>ccA	p.P200P	PPP1R3F_ENST00000495799.1_Intron|PPP1R3F_ENST00000466508.1_Intron|PPP1R3F_ENST00000438316.1_Intron	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	200	CBM21.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					GCTACGTCCCGCGCAGCCCGC	0.706													A	49126932	G	A	49126932	2	1	322	1	0	0	0	0	0	0	0	1	12457	1074	38	1		1	PPP1R3F	23	49126932	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	29758778	49126932	106143628	58	21562											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721964	64721964	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcctgaggctagttctgtCccctcgcttgtgactgccct	5	12	10	14	1	1	2	0	2	1	0	3	2	2	2	4	1	2	3	4	1	2	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:64721964C>A	ENST00000338957.4	+	5	1453	c.1386C>A	c.(1384-1386)gtC>gtA	p.V462V	ZC3H12B_ENST00000423889.3_Silent_p.V451V	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	451							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						CTAGTTCTGTCCCCTCGCTTG	0.607													A	64721964	C	A	64721964	2	1	322	1	0	0	0	0	0	0	0	1	17663	842	30	4		4	ZC3H12B	23	64721964	Silent	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	15595032	64721964	90548596	59	21563											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299120	125299120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggcccgtaccttgCggttgctggggttggtgctg	3	10	18	10	2	0	0	0	0	0	0	0	0	0	0	3	6	4	5	3	6	1	4			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:125299120C>T	ENST00000538699.1	-	2	868	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637													T	125299120	C	T	125299120	3	4	322	1	0	0	0	0	1	0	0	0	4299	768	27	1	607	1	DCAF12L2	23	125299120	Missense_Mutation	SNP	C	TCGA-DB-A4XH-01A-11D-A27K-08	60577156	125299120	29971440	60	21564											
ZNF280C	55609	broad.mit.edu	37	chrX	129354412	129354412	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctttctccttgctggtcaAaaattgtagtctgcattttg	8	17	8	8	0	3	0	1	0	2	0	4	0	3	0	1	1	3	4	1	1	3	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:129354412A>G	ENST00000370978.4	-	13	1591	c.1438T>C	c.(1438-1440)Ttg>Ctg	p.L480L		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	480					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTGCTGGTCAAAAATTGTAGT	0.393													G	129354412	A	G	129354412	2	3	322	1	0	0	0	0	0	0	0	1	17917	11	1	3		3	ZNF280C	23	129354412	Silent	SNP	A	TCGA-DB-A4XH-01A-11D-A27K-08	4055292	129354412	25916148	61	21565											
PLAC1	10761	broad.mit.edu	37	chrX	133700590	133700590	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcgttgtttagcatgaaGgggtgcactgtgaccatgaa	11	11	12	7	1	0	3	0	3	0	0	1	3	0	3	1	2	2	4	1	2	3	3			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:133700590G>C	ENST00000359237.4	-	3	408	c.123C>G	c.(121-123)ccC>ccG	p.P41P	PLAC1_ENST00000476971.1_5'UTR	NM_021796.3	NP_068568.1	Q9HBJ0	PLAC1_HUMAN	placenta-specific 1	41					placenta development	extracellular region				large_intestine(4)|lung(1)|pancreas(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTAGCATGAAGGGGTGCACTG	0.517													C	133700590	G	C	133700590	2	2	322	1	0	0	0	0	0	0	0	1	12089	987	35	4		4	PLAC1	23	133700590	Silent	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	4346178	133700590	21569970	62	21566											
SPANXD	64648	broad.mit.edu	37	chrX	140785691	140785691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggagggggttgattctGttctttcgggcgtggtcatt	4	17	15	5	2	3	1	1	1	2	0	4	2	3	2	0	5	0	2	0	5	0	6			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:140785691G>T	ENST00000370515.3	-	2	558	c.225C>A	c.(223-225)aaC>aaA	p.N75K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					GGTTGATTCTGTTCTTTCGGG	0.443													T	140785691	G	T	140785691	3	4	322	1	0	0	0	0	1	0	0	0	15084	1368	48	4	72	4	SPANXD	23	140785691	Missense_Mutation	SNP	G	TCGA-DB-A4XH-01A-11D-A27K-08	7085101	140785691	14484869	63	21567											
PNMA3	29944	broad.mit.edu	37	chrX	152226071	152226071	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaggtggtcagtgggcTccgggccagcaatgcttcca	6	9	13	13	1	2	0	1	0	1	0	5	0	4	0	4	4	2	3	4	4	1	1			TCGA-DB-A4XH-01A-11D-A27K-08	TCGA-DB-A4XH-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62718b87-e510-4dec-a3e5-9ea32d9fe53c	1ba5bcf8-0368-447b-918e-058cfb461883	g.chrX:152226071T>C	ENST00000447306.1	+	2	995	c.659T>C	c.(658-660)cTc>cCc	p.L220P	PNMA3_ENST00000370264.4_Missense_Mutation_p.L220P|PNMA3_ENST00000370265.4_Missense_Mutation_p.L220P	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	220					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gtcagtgggctccgggccagc	0.592													C	152226071	T	C	152226071	3	2	322	1	0	0	0	0	1	0	0	0	12232	1551	54	3	661	3	PNMA3	23	152226071	Missense_Mutation	SNP	T	TCGA-DB-A4XH-01A-11D-A27K-08	11440380	152226071	3044489	64	21568											
PTCH2	8643	broad.mit.edu	37	chr1	45291949	45291949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggactgtgaactcaacGccaatgcctacagaggccac	12	6	10	13	2	1	2	1	1	0	1	1	3	1	3	3	2	4	0	3	2	4	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:45291949G>A	ENST00000447098.2	-	19	3098	c.3087C>T	c.(3085-3087)ggC>ggT	p.G1029G	PTCH2_ENST00000372192.3_Silent_p.G1029G	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	1029					protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					TGAACTCAACGCCAATGCCTA	0.542									Basal Cell Nevus syndrome				A	45291949	G	A	45291949	2	1	323	1	0	0	0	0	0	0	0	1	12816	1074	38	1		1	PTCH2	1	45291949	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		45291949	203958672	1	21569											
FUBP1	8880	broad.mit.edu	37	chr1	78432436	78432436	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctggaaggccaccactgtCtacaatttaaaacaaacaga	16	9	6	10	0	2	1	0	0	2	1	2	2	2	2	2	2	3	0	2	2	6	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:78432436C>T	ENST00000370767.1	-	7	503		c.e7-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCACCACTGTCTACAATTTAA	0.318			"F, N"		oligodendroglioma								T	78432436	C	T	78432436	5	4	323	1	0	0	0	0	0	0	1	0	6144	927	32	2	1575	2	FUBP1	1	78432436	Splice_Site	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	33140487	78432436	170818185	2	21570											
FLG	2312	broad.mit.edu	37	chr1	152280318	152280318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcagatgaagcttgtccGtgcccaatgcctgagtgtct	8	11	11	11	1	1	3	0	2	1	1	2	3	2	3	3	0	4	2	3	0	2	1	rs147071702	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152280318G>A	ENST00000368799.1	-	3	7079	c.7044C>T	c.(7042-7044)caC>caT	p.H2348H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2348	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGCTTGTCCGTGCCCAATGC	0.552									Ichthyosis				A	152280318	G	A	152280318	2	1	323	1	0	0	0	0	0	0	0	1	5971	1136	40	1		1	FLG	1	152280318	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	73847882	152280318	96970303	3	21571											
FLG	2312	broad.mit.edu	37	chr1	152285513	152285513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctaacactggatccctGgttcctacttgtcctgggcc	5	12	10	14	0	0	0	0	0	0	0	3	1	3	1	4	4	2	2	4	4	2	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:152285513G>C	ENST00000368799.1	-	3	1884	c.1849C>G	c.(1849-1851)Cag>Gag	p.Q617E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	617	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGATCCCTGGTTCCTACTT	0.552									Ichthyosis				C	152285513	G	C	152285513	3	2	323	1	0	0	0	0	1	0	0	0	5971	1357	47	4	10340	4	FLG	1	152285513	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	5195	152285513	96965108	4	21572											
OR10J1	26476	broad.mit.edu	37	chr1	159409585	159409586	+	Frame_Shift_Del	DEL	AA	AA	-																															gatttgggaaccaatccatgAaaagagagaactttactctc																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:159409585_159409586delAA	ENST00000423932.3	+	1	74_75	c.37_38delAA	c.(37-39)aaafs	p.K13fs	RP11-550P17.5_ENST00000431862.1_RNA	NM_012351.2	NP_036483.2	P30954	O10J1_HUMAN	olfactory receptor, family 10, subfamily J, member 1	13					sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|stomach(1)	25	all_hematologic(112;0.0429)					CCAATCCATGAAAAGAGAGAAC	0.386													-	159409586	AA	-	159409585	7	5	323	1	0	1	0	1	0	0	0	0	10986	247	9	0	39	0	OR10J1	1	159409585	Frame_Shift_Del	DEL	AA	TCGA-DB-A64L-01A-11D-A29Q-08	7124072	159409585	89841036	5	21573											
IGSF8	93185	broad.mit.edu	37	chr1	160062140	160062140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggtaccagctgtagtcgGcatgctgcacccaggcgctg	6	8	13	14	2	0	0	0	0	0	0	1	0	0	0	3	3	4	7	3	3	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160062140G>A	ENST00000368086.1	-	5	1874	c.1658C>T	c.(1657-1659)gCc>gTc	p.A553V	IGSF8_ENST00000314485.7_Missense_Mutation_p.A553V			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	553	Ig-like C2-type 4.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.A553V(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCTGTAGTCGGCATGCTGCAC	0.647													A	160062140	G	A	160062140	3	1	323	1	0	0	0	0	1	0	0	0	7662	1203	42	2	191	2	IGSF8	1	160062140	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	652555	160062140	89188481	6	21574											
ATP1A4	480	broad.mit.edu	37	chr1	160136482	160136482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtggtttgatatgacCgtgtatgaggccgacaccac	10	10	11	10	2	0	3	0	3	0	0	0	4	0	3	3	2	0	2	3	2	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:160136482C>T	ENST00000368081.4	+	8	1683	c.1212C>T	c.(1210-1212)acC>acT	p.T404T		NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	404					ATP biosynthetic process|ATP hydrolysis coupled proton transport|regulation of cellular pH|sperm motility	sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TTGATATGACCGTGTATGAGG	0.562													T	160136482	C	T	160136482	2	4	323	1	0	0	0	0	0	0	0	1	1136	639	23	1		1	ATP1A4	1	160136482	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	74342	160136482	89114139	7	21575											
FCRLA	84824	broad.mit.edu	37	chr1	161681131	161681131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctctgggtcccccCgggcctaacagggaattctc	6	8	12	15	1	3	0	1	0	2	0	5	1	4	1	4	4	2	2	4	4	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:161681131C>T	ENST00000540926.1	+	4	677	c.384C>T	c.(382-384)ccC>ccT	p.P128P	FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron|FCRLA_ENST00000367953.3_Silent_p.P128P|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000236938.6_Silent_p.P139P|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Silent_p.P145P|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000349527.4_Silent_p.P122P|FCRLA_ENST00000470841.1_3'UTR			Q7L513	FCRLA_HUMAN	Fc receptor-like A	122	Ig-like C2-type 1.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGGGTCCCCCCGGGCCTAACA	0.602													T	161681131	C	T	161681131	2	4	323	1	0	0	0	0	0	0	0	1	5849	639	23	1		1	FCRLA	1	161681131	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	1544649	161681131	87569490	8	21576											
KLHL20	27252	broad.mit.edu	37	chr1	173726268	173726268	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgcagtaggaggccatgAtggatcctcttatctcaata	12	12	9	8	0	2	1	1	1	2	0	4	3	3	3	2	3	1	2	2	3	5	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:173726268A>T	ENST00000209884.4	+	7	1257	c.1121A>T	c.(1120-1122)gAt>gTt	p.D374V	KLHL20_ENST00000546011.1_Missense_Mutation_p.D185V	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	374					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GGAGGCCATGATGGATCCTCT	0.383													T	173726268	A	T	173726268	3	4	323	1	0	0	0	0	1	0	0	0	8433	333	12	5	1143	5	KLHL20	1	173726268	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	12045137	173726268	75524353	9	21577											
HMCN1	83872	broad.mit.edu	37	chr1	186092329	186092329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagcaggatcaagcagcaCaagcaccaagctcaccgtcc	13	5	9	14	1	2	0	2	0	0	0	3	1	3	1	3	1	5	6	3	1	4	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:186092329C>G	ENST00000271588.4	+	81	12705	c.12476C>G	c.(12475-12477)aCa>aGa	p.T4159R	HMCN1_ENST00000367492.2_Missense_Mutation_p.T4159R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4159	Ig-like C2-type 40.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TCAAGCAGCACAAGCACCAAG	0.493													G	186092329	C	G	186092329	3	3	323	1	0	0	0	0	1	0	0	0	7275	478	17	4	12798	4	HMCN1	1	186092329	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	12366061	186092329	63158292	10	21578											
USH2A	7399	broad.mit.edu	37	chr1	215972309	215972309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactctaaatcgttgctcaCaatctgtctgccacagcact	11	11	5	14	1	4	0	1	0	3	0	5	0	4	0	1	0	3	3	1	0	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:215972309C>A	ENST00000366943.2	-	50	10284	c.9898G>T	c.(9898-9900)Gtg>Ttg	p.V3300L	USH2A_ENST00000307340.3_Missense_Mutation_p.V3300L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3300					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)		TCGTTGCTCACAATCTGTCTG	0.527										HNSCC(13;0.011)			A	215972309	C	A	215972309	3	1	323	1	0	0	0	0	1	0	0	0	17138	478	17	4	5802	4	USH2A	1	215972309	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	29879980	215972309	33278312	11	21579											
ABCB10	23456	broad.mit.edu	37	chr1	229666080	229666080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatatgggcacctctgggCgagctggataggcaaaatgc	12	7	14	8	1	1	0	0	0	1	0	1	3	1	1	1	4	2	3	1	4	5	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr1:229666080C>T	ENST00000344517.4	-	8	1553	c.1511G>A	c.(1510-1512)cGc>cAc	p.R504H		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	504	ABC transporter.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACCTCTGGGCGAGCTGGATA	0.458													T	229666080	C	T	229666080	3	4	323	1	0	0	0	0	1	0	0	0	41	768	27	1	729	1	ABCB10	1	229666080	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	13693771	229666080	19584541	12	21580											
GALNT14	79623	broad.mit.edu	37	chr2	31215747	31215747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccgattgctggagatccGctcactctcccgctggttga	5	10	12	14	3	2	2	1	1	1	1	4	4	3	2	3	3	1	4	3	3	0	2	rs143970227		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:31215747G>A	ENST00000349752.5	-	2	895	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000406653.1_Missense_Mutation_p.R66W|GALNT14_ENST00000356174.3_Missense_Mutation_p.R86W|GALNT14_ENST00000420311.2_Missense_Mutation_p.R51W	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	86						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CTGGAGATCCGCTCACTCTCC	0.557													A	31215747	G	A	31215747	3	1	323	1	0	0	0	0	1	0	0	0	6266	1086	38	1	1458	1	GALNT14	2	31215747	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		31215747	211983626	13	21581											
PROKR1	10887	broad.mit.edu	37	chr2	68873234	68873234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccgctacaagaaactgcGcaacctcaccaacctgctca	12	6	7	16	2	2	1	2	0	0	1	3	1	3	1	4	1	6	3	4	1	5	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:68873234G>A	ENST00000303786.3	+	2	701	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PROKR1_ENST00000394342.2_Missense_Mutation_p.R94H			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	94						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AAGAAACTGCGCAACCTCACC	0.557													A	68873234	G	A	68873234	3	1	323	1	0	0	0	0	1	0	0	0	12638	1087	38	1	283	1	PROKR1	2	68873234	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	37657487	68873234	174326139	14	21582											
ADRA2B	151	broad.mit.edu	37	chr2	96781415	96781415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactgggggcgcccgcgCggctgggggccctggtcgcc	1	6	19	15	5	0	0	0	0	0	0	1	0	0	0	3	6	1	2	3	6	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:96781415C>T	ENST00000409345.3	-	1	569	c.474G>A	c.(472-474)ccG>ccA	p.P158P		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	158					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCGCCCGCGCGGCTGGGGGC	0.637													T	96781415	C	T	96781415	2	4	323	1	0	0	0	0	0	0	0	1	338	755	27	1		1	ADRA2B	2	96781415	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	27908181	96781415	146417958	15	21583											
SLC5A7	60482	broad.mit.edu	37	chr2	108604713	108604713	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaccaaaaacagtggcagCgcagaagagcgcagcgaagc	17	1	13	10	3	0	3	0	0	0	3	0	4	0	3	1	1	6	3	1	1	5	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:108604713C>T	ENST00000264047.2	+	2	378	c.102C>T	c.(100-102)agC>agT	p.S34S	SLC5A7_ENST00000540517.1_Intron|SLC5A7_ENST00000409059.1_Silent_p.S34S	NM_021815.2	NP_068587.1	Q9GZV3	SC5A7_HUMAN	solute carrier family 5 (sodium/choline cotransporter), member 7	34					acetylcholine biosynthetic process|neurotransmitter secretion	integral to membrane|plasma membrane	choline:sodium symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	49					Choline(DB00122)	ACAGTGGCAGCGCAGAAGAGC	0.502													T	108604713	C	T	108604713	2	4	323	1	0	0	0	0	0	0	0	1	14764	767	27	1		1	SLC5A7	2	108604713	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	11823298	108604713	134594660	16	21584											
SP3	6670	broad.mit.edu	37	chr2	174777827	174777827	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgtgcctctgtaatTcatcacttcgagtaaatctt	8	18	5	10	1	6	0	2	0	4	0	7	1	6	0	1	0	1	2	1	0	3	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:174777827T>C	ENST00000310015.6	-	6	2530	c.2000A>G	c.(1999-2001)gAa>gGa	p.E667G	SP3_ENST00000455789.2_Missense_Mutation_p.E614G|SP3_ENST00000418194.2_Missense_Mutation_p.E599G	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	667					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CCTCTGTAATTCATCACTTCG	0.378													C	174777827	T	C	174777827	3	2	323	1	0	0	0	0	1	0	0	0	15059	1783	62	3	353	3	SP3	2	174777827	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	66173114	174777827	68421546	17	21585											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	323	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	34335285	209113112	34086261	18	21586											
UGT1A3	54659	broad.mit.edu	37	chr2	234638340	234638340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggcacacagtgtccaaacCcttcctcctatattcctaga	11	10	6	14	0	0	1	0	0	0	1	4	1	4	1	5	1	1	1	5	1	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:234638340C>T	ENST00000482026.1	+	1	587	c.568C>T	c.(568-570)Cct>Tct	p.P190S	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.P190S|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GTGTCCAAACCCTTCCTCCTA	0.453													T	234638340	C	T	234638340	3	4	323	1	0	0	0	0	1	0	0	0	17048	623	22	2	570	2	UGT1A3	2	234638340	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	25525228	234638340	8561033	19	21587											
UGT1A3	54659	broad.mit.edu	37	chr2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcaactgtgccaacAggaagccactatctcaggtc	11	7	11	12	0	2	0	2	0	1	0	4	1	2	1	2	4	4	1	2	4	4	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A6_ENST00000406651.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A4_ENST00000373409.3_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000608381.1_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGCCAACAGGAAGCCACT	0.438													G	234638622	A	G	234638622	3	3	323	1	0	0	0	0	1	0	0	0	17048	179	7	3	852	3	UGT1A3	2	234638622	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	282	234638622	8560751	20	21588											
TIMP4	7079	broad.mit.edu	37	chr3	12195065	12195065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaggcaggtggccccGgtaccagctgcaggtgccgt	6	6	16	13	2	0	1	0	1	0	1	0	2	0	1	5	5	4	4	5	5	1	1	rs144326666	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:12195065G>A	ENST00000287814.4	-	5	1135	c.625C>T	c.(625-627)Cgg>Tgg	p.R209W	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	209							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						AGGTGGCCCCGGTACCAGCTG	0.532													A	12195065	G	A	12195065	3	1	323	1	0	0	0	0	1	0	0	0	16020	1115	39	1	53	1	TIMP4	3	12195065	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		12195065	185827365	21	21589											
TRIM71	131405	broad.mit.edu	37	chr3	32932670	32932670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcgaccgaccagccggCgtggcctgtgacgcctcacg	6	6	13	16	6	1	1	1	1	0	0	2	3	1	1	5	2	1	1	5	2	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:32932670C>T	ENST00000383763.5	+	4	2037	c.1974C>T	c.(1972-1974)ggC>ggT	p.G658G		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACCAGCCGGCGTGGCCTGTG	0.622													T	32932670	C	T	32932670	2	4	323	1	0	0	0	0	0	0	0	1	16645	755	27	1		1	TRIM71	3	32932670	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	20737605	32932670	165089760	22	21590											
GTPBP8	29083	broad.mit.edu	37	chr3	112709901	112709901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactctttgaaatgcctgcgGtgctagagcgactgagccgc	8	9	13	11	3	1	3	0	2	1	1	1	5	1	3	2	1	5	1	2	1	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:112709901G>A	ENST00000383677.3	+	1	70	c.55G>A	c.(55-57)Gtg>Atg	p.V19M	GTPBP8_ENST00000383678.2_Missense_Mutation_p.V19M|RP11-484K9.4_ENST00000609673.1_RNA	NM_138485.1	NP_612494.1	Q8N3Z3	GTPB8_HUMAN	GTP-binding protein 8 (putative)	19					barrier septum formation		GTP binding			kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	6						AATGCCTGCGGTGCTAGAGCG	0.607													A	112709901	G	A	112709901	3	1	323	1	0	0	0	0	1	0	0	0	6939	1261	44	2	57	2	GTPBP8	3	112709901	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	79777231	112709901	85312529	23	21591											
RABL3	285282	broad.mit.edu	37	chr3	120417392	120417392	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccaacagtggtatttggtTatcagcaaactgttcttgat	11	15	8	7	0	2	1	1	1	1	0	2	1	2	1	1	2	4	4	1	2	5	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:120417392T>A	ENST00000273375.3	-	5	441	c.412A>T	c.(412-414)Aac>Tac	p.N138Y	RABL3_ENST00000491398.1_5'UTR|RABL3_ENST00000483733.1_Missense_Mutation_p.N138Y	NM_173825.3	NP_776186.2	Q5HYI8	RABL3_HUMAN	RAB, member of RAS oncogene family-like 3	138	Small GTPase-like.				small GTPase mediated signal transduction		GTP binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)	17				GBM - Glioblastoma multiforme(114;0.151)		GGTATTTGGTTATCAGCAAAC	0.363													A	120417392	T	A	120417392	3	1	323	1	0	0	0	0	1	0	0	0	13060	1754	61	5	314	5	RABL3	3	120417392	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	7707491	120417392	77605038	24	21592											
KALRN	8997	broad.mit.edu	37	chr3	124385314	124385314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcactctgactgctcagGggaagctgctgcagcaggac	9	6	15	11	0	2	1	1	1	1	0	2	3	2	3	0	4	5	6	0	4	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:124385314G>A	ENST00000291478.5	+	13	1433	c.1270G>A	c.(1270-1272)Ggg>Agg	p.G424R	KALRN_ENST00000428018.2_Missense_Mutation_p.G392R|KALRN_ENST00000393496.1_Missense_Mutation_p.G462R|KALRN_ENST00000459915.1_Missense_Mutation_p.G213R|KALRN_ENST00000360013.3_Missense_Mutation_p.G2121R	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTGCTCAGGGGAAGCTGCT	0.572													A	124385314	G	A	124385314	3	1	323	1	0	0	0	0	1	0	0	0	8033	1232	43	2	6699	2	KALRN	3	124385314	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	3967922	124385314	73637116	25	21593											
PLD1	5337	broad.mit.edu	37	chr3	171455769	171455769	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgtccagattttctaTgatattactcatgtcagcag	9	14	8	10	2	3	2	2	1	1	1	4	2	4	2	2	0	2	1	2	0	3	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr3:171455769T>A	ENST00000356327.5	-	2	143	c.73A>T	c.(73-75)Ata>Tta	p.I25L	PLD1_ENST00000342215.6_Missense_Mutation_p.I25L|PLD1_ENST00000351298.4_Missense_Mutation_p.I25L|PLD1_ENST00000340989.4_Missense_Mutation_p.I25L	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	25					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGATTTTCTATGATATTACTC	0.458													A	171455769	T	A	171455769	3	1	323	1	0	0	0	0	1	0	0	0	12122	1464	51	5	3255	5	PLD1	3	171455769	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	47070455	171455769	26566661	26	21594											
EPHA5	2044	broad.mit.edu	37	chr4	66361141	66361141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggatcagactctctcCtgaaataatccttttcacag	10	13	8	10	0	3	2	2	1	1	1	6	3	5	3	2	2	0	0	2	2	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:66361141C>A	ENST00000273854.3	-	4	1631	c.1031G>T	c.(1030-1032)aGg>aTg	p.R344M	EPHA5_ENST00000354839.4_Missense_Mutation_p.R344M|EPHA5_ENST00000511294.1_Missense_Mutation_p.R344M|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	344	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AGACTCTCTCCTGAAATAATC	0.463										TSP Lung(17;0.13)			A	66361141	C	A	66361141	3	1	323	1	0	0	0	0	1	0	0	0	5211	681	24	4	2142	4	EPHA5	4	66361141	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		66361141	124793135	27	21595											
ADH1B	125	broad.mit.edu	37	chr4	100235199	100235199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcagataggccgacccCtcccaggccaaacacagcac	14	2	8	17	1	0	1	0	0	0	1	1	2	1	1	5	2	4	2	5	2	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr4:100235199C>T	ENST00000305046.8	-	6	674	c.607G>A	c.(607-609)Ggg>Agg	p.G203R	ADH1B_ENST00000394887.3_Missense_Mutation_p.G163R			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	203					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	AGGCCGACCCCTCCCAGGCCA	0.468													T	100235199	C	T	100235199	3	4	323	1	0	0	0	0	1	0	0	0	308	681	24	2	536	2	ADH1B	4	100235199	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	33874058	100235199	90919077	28	21596											
OSMR	9180	broad.mit.edu	37	chr5	38923283	38923283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaggagttcgatatgacttCagaatttatgggttatctac	11	14	9	7	1	2	2	1	1	1	1	3	4	2	3	1	2	1	2	1	2	5	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:38923283C>T	ENST00000274276.3	+	13	2199	c.1797C>T	c.(1795-1797)ttC>ttT	p.F599F		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	599	Fibronectin type-III 3.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GATATGACTTCAGAATTTATG	0.328													T	38923283	C	T	38923283	2	4	323	1	0	0	0	0	0	0	0	1	11368	825	29	2		2	OSMR	5	38923283	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		38923283	141991977	29	21597											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710720	140710720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtctcattgccttttGggcaagaccttgatgtgggt	7	13	12	9	0	1	3	1	1	1	2	2	3	1	3	3	2	1	1	3	2	1	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:140710720G>T	ENST00000517417.1	+	1	469	c.469G>T	c.(469-471)Ggg>Tgg	p.G157W	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.G157W	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGCCTTTTGGGCAAGACCT	0.458													T	140710720	G	T	140710720	3	4	323	1	0	0	0	0	1	0	0	0	11626	1348	47	4	471	4	PCDHGA1	5	140710720	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	101787437	140710720	40204540	30	21598											
KIF4B	285643	broad.mit.edu	37	chr5	154395932	154395932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcagattgctgacctacAgcagaagctgctggatgcag	10	9	12	10	0	1	3	1	1	0	2	1	4	1	4	1	1	7	6	1	1	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr5:154395932A>T	ENST00000435029.4	+	1	2673	c.2513A>T	c.(2512-2514)cAg>cTg	p.Q838L		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	838	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCTGACCTACAGCAGAAGCTG	0.433													T	154395932	A	T	154395932	3	4	323	1	0	0	0	0	1	0	0	0	8362	188	7	5	2515	5	KIF4B	5	154395932	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	13685212	154395932	26519328	31	21599											
GCNT2	2651	broad.mit.edu	37	chr6	10529180	10529180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcactgtctttttagcgcGtctcttatctctgccctgat	6	16	7	12	2	3	1	0	1	3	0	5	1	3	1	1	0	3	1	1	0	3	4	rs142352495	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:10529180G>A	ENST00000379597.3	+	1	592	c.36G>A	c.(34-36)gcG>gcA	p.A12A	GCNT2_ENST00000495262.1_Silent_p.A12A|GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron			Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	12						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		TTTTTAGCGCGTCTCTTATCT	0.388													A	10529180	G	A	10529180	2	1	323	1	0	0	0	0	0	0	0	1	6355	1132	40	1		1	GCNT2	6	10529180	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		10529180	160585887	32	21600											
HLA-F	3134	broad.mit.edu	37	chr6	29692052	29692052	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgacggcaaggattacatctCcctgaacgaggacctgcgct	10	7	11	13	4	1	1	0	1	1	0	2	5	1	3	2	3	3	2	2	3	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:29692052C>G	ENST00000440587.2	+	3	442	c.83C>G	c.(82-84)tCc>tGc	p.S28C	HLA-F_ENST00000259951.7_Missense_Mutation_p.S146C|HLA-F_ENST00000376861.1_Missense_Mutation_p.S146C|HLA-F_ENST00000434407.2_Missense_Mutation_p.S146C|HLA-F_ENST00000334668.4_Missense_Mutation_p.S146C			P30511	HLAF_HUMAN	major histocompatibility complex, class I, F	146	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						GATTACATCTCCCTGAACGAG	0.622													G	29692052	C	G	29692052	3	3	323	1	0	0	0	0	1	0	0	0	7266	855	30	4	447	4	HLA-F	6	29692052	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	19162872	29692052	141423015	33	21601											
TINAG	27283	broad.mit.edu	37	chr6	54173456	54173456	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacctagaggcttatttcacTaggaatcacaccgttttgca	11	12	8	10	1	2	1	2	0	0	1	2	3	2	2	2	2	1	3	2	2	4	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr6:54173456T>C	ENST00000259782.4	+	1	204	c.108T>C	c.(106-108)acT>acC	p.T36T	TINAG_ENST00000370869.3_Silent_p.T32T|TINAG_ENST00000370864.3_Silent_p.T18T|TINAG_ENST00000486436.1_3'UTR	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	36					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTTATTTCACTAGGAATCACA	0.393													C	54173456	T	C	54173456	2	2	323	1	0	0	0	0	0	0	0	1	16021	1509	53	3		3	TINAG	6	54173456	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	24481404	54173456	116941611	34	21602											
ICA1	3382	broad.mit.edu	37	chr7	8167703	8167703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcattgaagatctcaCtcaacagcagcaggtcatct	14	8	9	10	0	4	2	3	1	2	1	5	3	4	3	0	2	4	3	0	2	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:8167703C>T	ENST00000402384.3	-	13	1396	c.1130G>A	c.(1129-1131)aGt>aAt	p.S377N	ICA1_ENST00000422063.2_Missense_Mutation_p.S406N|ICA1_ENST00000396675.3_Missense_Mutation_p.S377N|ICA1_ENST00000406470.2_Missense_Mutation_p.S377N|ICA1_ENST00000265577.7_Missense_Mutation_p.S376N|ICA1_ENST00000401396.1_Missense_Mutation_p.S365N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	377					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GAAGATCTCACTCAACAGCAG	0.542													T	8167703	C	T	8167703	3	4	323	1	0	0	0	0	1	0	0	0	7535	565	20	2	329	2	ICA1	7	8167703	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		8167703	150970960	35	21603											
HOXA11	3207	broad.mit.edu	37	chr7	27224590	27224590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctctgaaggtcacttcGcgcacgggttggacctgggg	6	10	14	11	3	2	1	1	1	1	0	4	2	2	2	1	5	1	2	1	5	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:27224590G>A	ENST00000006015.3	-	1	245	c.174C>T	c.(172-174)cgC>cgT	p.R58R	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	58					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						AGGTCACTTCGCGCACGGGTT	0.612			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	27224590	G	A	27224590	2	1	323	1	0	0	0	0	0	0	0	1	7345	1074	38	1		1	HOXA11	7	27224590	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	19056887	27224590	131914073	36	21604											
MUC17	140453	broad.mit.edu	37	chr7	100677937	100677937	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacttattctcaagccagTtcatcttctacaactgctga	11	13	4	13	0	4	1	2	1	3	0	5	1	4	1	2	0	4	2	2	0	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100677937T>C	ENST00000306151.4	+	3	3304	c.3240T>C	c.(3238-3240)agT>agC	p.S1080S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1080	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)					CTCAAGCCAGTTCATCTTCTA	0.512													C	100677937	T	C	100677937	2	2	323	1	0	0	0	0	0	0	0	1	10050	1722	60	3		3	MUC17	7	100677937	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	73453347	100677937	58460726	37	21605											
MUC17	140453	broad.mit.edu	37	chr7	100678887	100678887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctagtgaaggaaccactcCgttaacaagtatacctgtca	13	10	7	11	1	1	1	1	1	0	0	3	2	3	2	4	1	3	2	4	1	7	4	rs141608296		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:100678887C>T	ENST00000306151.4	+	3	4254	c.4190C>T	c.(4189-4191)cCg>cTg	p.P1397L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1397	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)					GGAACCACTCCGTTAACAAGT	0.507													T	100678887	C	T	100678887	3	4	323	1	0	0	0	0	1	0	0	0	10050	652	23	1	4200	1	MUC17	7	100678887	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	950	100678887	58459776	38	21606											
RINT1	60561	broad.mit.edu	37	chr7	105187664	105187664	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attttagcacagcttcattgGccattcatcgcaccccctca	9	12	5	15	1	3	0	3	0	0	0	4	0	3	0	3	1	2	3	3	1	1	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr7:105187664G>A	ENST00000257700.2	+	6	954	c.723G>A	c.(721-723)tgG>tgA	p.W241*		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	241	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AGCTTCATTGGCCATTCATCG	0.433													A	105187664	G	A	105187664	4	1	323	1	0	0	0	0	0	1	0	0	13467	1212	42	2	745	2	RINT1	7	105187664	Nonsense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	4508777	105187664	53950999	39	21607											
RP1	6101	broad.mit.edu	37	chr8	55533908	55533908	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgcccgcggccctggCtcagcagccgggccattagc	4	5	15	17	5	1	0	1	0	0	0	2	0	1	0	4	4	3	2	4	4	1	1	rs147116231	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:55533908C>G	ENST00000220676.1	+	2	530	c.382C>G	c.(382-384)Ctc>Gtc	p.L128V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	128					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GCGGCCCTGGCTCAGCAGCCG	0.697													G	55533908	C	G	55533908	3	3	323	1	0	0	0	0	1	0	0	0	13623	797	28	4	384	4	RP1	8	55533908	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		55533908	90830114	40	21608											
KCNB2	9312	broad.mit.edu	37	chr8	73480218	73480218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgacgactataatctgaaCgagaacgagtatttctttga	13	12	9	7	4	2	3	0	2	2	1	2	7	2	3	0	0	3	1	0	0	5	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:73480218C>T	ENST00000523207.1	+	2	837	c.249C>T	c.(247-249)aaC>aaT	p.N83N		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	83					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATAATCTGAACGAGAACGAGT	0.517													T	73480218	C	T	73480218	2	4	323	1	0	0	0	0	0	0	0	1	8071	535	19	1		1	KCNB2	8	73480218	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	17946310	73480218	72883804	41	21609											
FZD6	8323	broad.mit.edu	37	chr8	104337523	104337523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatttccttaaatcatgttCgacaagtcatacaacatgat	14	15	4	8	1	2	1	2	1	0	0	4	2	3	1	1	0	2	1	1	0	6	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr8:104337523C>T	ENST00000358755.4	+	4	1506	c.1189C>T	c.(1189-1191)Cga>Tga	p.R397*	FZD6_ENST00000522566.1_Nonsense_Mutation_p.R397*|FZD6_ENST00000523739.1_Nonsense_Mutation_p.R365*|FZD6_ENST00000540287.1_Nonsense_Mutation_p.R92*	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	397					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AAATCATGTTCGACAAGTCAT	0.418													T	104337523	C	T	104337523	4	4	323	1	0	0	0	0	0	1	0	0	6186	876	31	1	1199	1	FZD6	8	104337523	Nonsense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	30857305	104337523	42026499	42	21610											
GLIS3	169792	broad.mit.edu	37	chr9	3898784	3898784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggctgcagggactgcaCggtgaggcaatctgtgagca	8	6	17	10	2	1	2	0	2	1	0	1	3	1	3	1	5	3	5	1	5	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:3898784C>T	ENST00000324333.10	-	6	1763	c.1570G>A	c.(1570-1572)Gtg>Atg	p.V524M	GLIS3_ENST00000381971.3_Missense_Mutation_p.V679M|GLIS3_ENST00000461870.1_5'UTR|GLIS3-AS1_ENST00000451340.2_RNA	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	524					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGGACTGCACGGTGAGGCAA	0.592													T	3898784	C	T	3898784	3	4	323	1	0	0	0	0	1	0	0	0	6503	536	19	1	777	1	GLIS3	9	3898784	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		3898784	137314647	43	21611											
TAF1L	138474	broad.mit.edu	37	chr9	32631823	32631823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctggttccgcttaagcCgcctcagttgctcttgaatc	5	15	8	13	2	2	1	1	1	1	0	5	1	4	1	4	1	2	4	4	1	2	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:32631823C>T	ENST00000242310.4	-	1	3844	c.3755G>A	c.(3754-3756)cGg>cAg	p.R1252Q		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1252					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		CCGCTTAAGCCGCCTCAGTTG	0.448													T	32631823	C	T	32631823	3	4	323	1	0	0	0	0	1	0	0	0	15620	652	23	1	1729	1	TAF1L	9	32631823	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	28733039	32631823	108581608	44	21612											
KIAA1045	23349	broad.mit.edu	37	chr9	34971620	34971620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgttcatccgccccaccCggaagctggatgatgacaaa	10	7	10	14	3	1	2	1	2	0	0	2	4	2	4	4	2	2	2	4	2	2	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:34971620C>T	ENST00000242315.3	+	2	407	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	KIAA1045_ENST00000476115.2_Intron|KIAA1045_ENST00000544237.1_Missense_Mutation_p.R109W	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	109							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			CCGCCCCACCCGGAAGCTGGA	0.602													T	34971620	C	T	34971620	3	4	323	1	0	0	0	0	1	0	0	0	8265	643	23	1	327	1	KIAA1045	9	34971620	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	2339797	34971620	106241811	45	21613											
TMC1	117531	broad.mit.edu	37	chr9	75441910	75441910	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtcattttggtgatggTgtatgtgcttttcctcctca	4	19	10	8	0	2	1	2	1	0	0	4	1	4	1	2	2	2	3	2	2	1	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:75441910T>C	ENST00000297784.5	+	21	2669	c.2129T>C	c.(2128-2130)gTt>gCt	p.V710A	TMC1_ENST00000340019.3_Splice_Site_p.V710A|TMC1_ENST00000396237.3_Splice_Site_p.V710A|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	710					sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TTGGTGATGGTGTATGTGCTT	0.473													C	75441910	T	C	75441910	5	2	323	1	0	0	0	0	0	0	1	0	16084	1710	59	3	2195	3	TMC1	9	75441910	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	40470290	75441910	65771521	46	21614											
MRPL50	54534	broad.mit.edu	37	chr9	104160861	104160861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctggtaatgcccgacacaGatcgcgccgccatcttcgat	8	10	9	14	5	2	1	0	0	2	1	4	3	2	1	3	1	1	1	3	1	1	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:104160861G>C	ENST00000374865.4	-	1	35	c.14C>G	c.(13-15)tCt>tGt	p.S5C	MRPL50_ENST00000539624.1_Missense_Mutation_p.S5C	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	5						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				GCCCGACACAGATCGCGCCGC	0.547													C	104160861	G	C	104160861	3	2	323	1	0	0	0	0	1	0	0	0	9890	942	33	4	470	4	MRPL50	9	104160861	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	28718951	104160861	37052570	47	21615											
FUBP3	8939	broad.mit.edu	37	chr9	133470894	133470894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctaaaattgattcaattCctcacttgaataattccaca	14	14	3	10	0	2	2	2	2	0	0	4	2	4	2	2	0	1	1	2	0	5	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:133470894C>A	ENST00000319725.9	+	2	184	c.109C>A	c.(109-111)Cct>Act	p.P37T		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	37					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		TGATTCAATTCCTCACTTGAA	0.413													A	133470894	C	A	133470894	3	1	323	1	0	0	0	0	1	0	0	0	6145	855	30	4	115	4	FUBP3	9	133470894	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	29310033	133470894	7742537	48	21616											
NOTCH1	4851	broad.mit.edu	37	chr9	139404348	139404348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaagtgccccggaagcCgggcaggcagtcgcagaagg	12	2	16	11	3	0	2	0	0	0	2	1	3	0	3	3	4	2	3	3	4	3	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr9:139404348C>A	ENST00000277541.6	-	18	2881	c.2806G>T	c.(2806-2808)Ggc>Tgc	p.G936C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	936	EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CCCCGGAAGCCGGGCAGGCAG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139404348	C	A	139404348	3	1	323	1	0	0	0	0	1	0	0	0	10623	652	23	4	4929	4	NOTCH1	9	139404348	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	5933454	139404348	1809083	49	21617											
KIF20B	9585	broad.mit.edu	37	chr10	91503566	91503566	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tataaacattattttgtaggTatctgtaatgcgtgatgagg	12	16	10	3	1	1	2	0	2	1	0	1	2	1	2	0	2	2	3	0	2	7	8			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:91503566T>C	ENST00000416354.1	+	22	4079	c.4007T>C	c.(4006-4008)gTa>gCa	p.V1336A	KIF20B_ENST00000260753.4_Splice_Site_p.V1266A|KIF20B_ENST00000371728.3_Splice_Site_p.V1306A|KIF20B_ENST00000394289.2_Splice_Site_p.V1306A|KIF20B_ENST00000478929.1_3'UTR			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1306					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATTTTGTAGGTATCTGTAATG	0.284													C	91503566	T	C	91503566	5	2	323	1	0	0	0	0	0	0	1	0	8345	1652	57	3	3879	3	KIF20B	10	91503566	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		91503566	44031181	50	21618											
ABLIM1	3983	broad.mit.edu	37	chr10	116199848	116199848	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgttccatacctggtaaTctgaaaaggaaaggaaaaga	18	8	10	5	0	1	2	0	1	1	1	2	4	2	4	2	3	1	2	2	3	8	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr10:116199848T>C	ENST00000369252.4	-	20	2181	c.1880A>G	c.(1879-1881)gAt>gGt	p.D627G	ABLIM1_ENST00000369253.2_Splice_Site_p.D310G|ABLIM1_ENST00000369266.3_Intron|ABLIM1_ENST00000392952.3_Splice_Site_p.D364G|ABLIM1_ENST00000277895.5_Splice_Site_p.D687G|ABLIM1_ENST00000533213.2_Intron	NM_001003407.1|NM_001003408.1	NP_001003407.1|NP_001003408.1	O14639	ABLM1_HUMAN	actin binding LIM protein 1	687					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		TACCTGGTAATCTGAAAAGGA	0.403													C	116199848	T	C	116199848	5	2	323	1	0	0	0	0	0	0	1	0	94	1450	50	3		3	ABLIM1	10	116199848	Splice_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	24696282	116199848	19334899	51	21619											
NELL1	4745	broad.mit.edu	37	chr11	20907004	20907004	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggatttatgagcgtgTgatagaccctccagatacca	12	11	9	9	1	0	4	0	2	0	2	1	5	1	5	3	1	3	0	3	1	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:20907004T>C	ENST00000298925.5	+	6	758	c.605T>C	c.(604-606)gTg>gCg	p.V202A	NELL1_ENST00000325319.5_Missense_Mutation_p.V117A|NELL1_ENST00000357134.5_Missense_Mutation_p.V174A|NELL1_ENST00000532434.1_Missense_Mutation_p.V174A			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	174	TSP N-terminal.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						TATGAGCGTGTGATAGACCCT	0.433													C	20907004	T	C	20907004	3	2	323	1	0	0	0	0	1	0	0	0	10409	1696	59	3	539	3	NELL1	11	20907004	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		20907004	114099512	52	21620											
CD44	960	broad.mit.edu	37	chr11	35198139	35198139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatttgaatataacctgcCgctttgcaggtgtattccac	10	14	8	9	1	0	2	0	1	0	1	1	2	1	2	3	1	3	3	3	1	5	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:35198139C>T	ENST00000263398.6	+	2	519	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C	CD44_ENST00000526025.1_Missense_Mutation_p.R29C|CD44_ENST00000434472.2_Missense_Mutation_p.R29C|CD44_ENST00000428726.2_Missense_Mutation_p.R29C|CD44_ENST00000433354.2_Missense_Mutation_p.R29C|CD44_ENST00000526669.2_Missense_Mutation_p.R29C|CD44_ENST00000437706.2_Missense_Mutation_p.R29C|CD44_ENST00000433892.2_Missense_Mutation_p.R29C|CD44_ENST00000278386.6_Missense_Mutation_p.R29C|CD44_ENST00000449691.2_Missense_Mutation_p.R29C|CD44_ENST00000360158.4_Missense_Mutation_p.R29C|CD44_ENST00000415148.2_Missense_Mutation_p.R29C|CD44_ENST00000352818.4_Missense_Mutation_p.R29C	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	29					cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	TATAACCTGCCGCTTTGCAGG	0.433													T	35198139	C	T	35198139	3	4	323	1	0	0	0	0	1	0	0	0	3047	652	23	1	91	1	CD44	11	35198139	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	14291135	35198139	99808377	53	21621											
RTN3	10313	broad.mit.edu	37	chr11	63487943	63487943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagaggacctgatagcaGcctttacagaaaccagagat	14	6	9	12	0	0	4	0	1	0	3	0	6	0	5	5	1	4	1	5	1	3	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63487943G>A	ENST00000377819.5	+	3	2123	c.1969G>A	c.(1969-1971)Gcc>Acc	p.A657T	RTN3_ENST00000540798.1_Missense_Mutation_p.A545T|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.A638T|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000341307.2_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	657					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						CCTGATAGCAGCCTTTACAGA	0.358													A	63487943	G	A	63487943	3	1	323	1	0	0	0	0	1	0	0	0	13818	971	34	2	1979	2	RTN3	11	63487943	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	28289804	63487943	71518573	54	21622											
FERMT3	83706	broad.mit.edu	37	chr11	63987951	63987951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctggctgccgcctggcctCcaaaggccgcaccatggccg	5	5	14	17	3	0	0	0	0	0	0	1	0	1	0	7	5	1	3	7	5	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:63987951C>T	ENST00000279227.5	+	12	1462	c.1367C>T	c.(1366-1368)tCc>tTc	p.S456F	FERMT3_ENST00000345728.5_Missense_Mutation_p.S452F	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	456	FERM.|PH.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGCCTGGCCTCCAAAGGCCGC	0.682													T	63987951	C	T	63987951	3	4	323	1	0	0	0	0	1	0	0	0	5868	855	30	2	1409	2	FERMT3	11	63987951	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	500008	63987951	71018565	55	21623											
PITPNM1	9600	broad.mit.edu	37	chr11	67266176	67266176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtgacggcctcgaaggCggagctcagcgtctgcacat	7	6	16	12	5	2	1	1	1	1	0	3	3	2	2	1	4	3	2	1	4	1	0	rs151117956	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:67266176C>T	ENST00000356404.3	-	10	1600	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	PITPNM1_ENST00000436757.2_Missense_Mutation_p.A459T|PITPNM1_ENST00000534749.1_Missense_Mutation_p.A459T	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	459					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCCTCGAAGGCGGAGCTCAGC	0.662													T	67266176	C	T	67266176	3	4	323	1	0	0	0	0	1	0	0	0	12027	768	27	1	2419	1	PITPNM1	11	67266176	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3278225	67266176	67740340	56	21624											
INTS4	92105	broad.mit.edu	37	chr11	77672047	77672047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgggtcttggtcactgaaGtaatcccctataatcttctg	8	14	9	10	1	4	1	1	1	3	0	5	1	5	1	2	2	0	1	2	2	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:77672047G>A	ENST00000534064.1	-	5	643	c.609C>T	c.(607-609)taC>taT	p.Y203Y	INTS4_ENST00000529807.1_Silent_p.Y203Y	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	203					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGTCACTGAAGTAATCCCCTA	0.428													A	77672047	G	A	77672047	2	1	323	1	0	0	0	0	0	0	0	1	7838	1024	36	2		2	INTS4	11	77672047	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10405871	77672047	57334469	57	21625											
ROBO3	64221	broad.mit.edu	37	chr11	124740574	124740574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacgtacacctgtgtggCggagaacagtgtgggccgcg	8	6	18	9	4	0	1	0	0	0	1	0	3	0	2	2	4	3	1	2	4	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr11:124740574C>T	ENST00000397801.1	+	6	1175	c.983C>T	c.(982-984)gCg>gTg	p.A328V	ROBO3_ENST00000538940.1_Missense_Mutation_p.A306V	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	328	Ig-like C2-type 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		ACCTGTGTGGCGGAGAACAGT	0.602													T	124740574	C	T	124740574	3	4	323	1	0	0	0	0	1	0	0	0	13606	768	27	1	1005	1	ROBO3	11	124740574	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	47068527	124740574	10265942	58	21626											
CHD4	1108	broad.mit.edu	37	chr12	6701875	6701875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacttactggaacctctcggGggtgagaaagttgagcagat	11	10	13	7	1	1	3	0	2	1	2	2	5	1	4	1	3	4	2	1	3	4	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:6701875G>A	ENST00000309577.6	-	18	2924	c.2761C>T	c.(2761-2763)Ccc>Tcc	p.P921S	CHD4_ENST00000544040.1_Missense_Mutation_p.P914S|CHD4_ENST00000544484.1_Missense_Mutation_p.P918S|CHD4_ENST00000357008.2_Missense_Mutation_p.P921S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	921	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						AACCTCTCGGGGGTGAGAAAG	0.433													A	6701875	G	A	6701875	3	1	323	1	0	0	0	0	1	0	0	0	3357	1232	43	2	3069	2	CHD4	12	6701875	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		6701875	127150020	59	21627											
NAV3	89795	broad.mit.edu	37	chr12	78513090	78513090	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatctctacaaagatctccTtcagatgcaggaaaaagcag	15	9	7	10	0	4	2	2	0	2	2	6	3	4	3	1	1	3	2	1	1	4	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:78513090T>G	ENST00000397909.2	+	15	3287	c.3114T>G	c.(3112-3114)ccT>ccG	p.P1038P	NAV3_ENST00000536525.2_Silent_p.P1038P|NAV3_ENST00000266692.7_Silent_p.P1038P|NAV3_ENST00000228327.6_Silent_p.P1038P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1038	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						AAAGATCTCCTTCAGATGCAG	0.438										HNSCC(70;0.22)			G	78513090	T	G	78513090	2	3	323	1	0	0	0	0	0	0	0	1	10261	1596	56	5		5	NAV3	12	78513090	Silent	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	71811215	78513090	55338805	60	21628											
GCN1L1	10985	broad.mit.edu	37	chr12	120594273	120594273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcacacacccggagcaCggtttcccgcacgctggcac	8	5	11	17	4	0	1	0	1	0	0	1	2	1	2	2	3	2	6	2	3	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:120594273C>T	ENST00000300648.6	-	28	3316	c.3304G>A	c.(3304-3306)Gtg>Atg	p.V1102M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	1102					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ACCCGGAGCACGGTTTCCCGC	0.577													T	120594273	C	T	120594273	3	4	323	1	0	0	0	0	1	0	0	0	6353	536	19	1	4835	1	GCN1L1	12	120594273	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	42081183	120594273	13257622	61	21629											
B3GNT4	79369	broad.mit.edu	37	chr12	122691360	122691360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccagtgggacttcactGaggacttcttcaacctgacg	8	11	9	13	1	3	2	2	2	1	0	5	4	5	4	3	2	1	0	3	2	1	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:122691360G>A	ENST00000535274.1	+	1	2214	c.487G>A	c.(487-489)Gag>Aag	p.E163K	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.E188K|B3GNT4_ENST00000546192.1_Missense_Mutation_p.E163K			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	188					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		GGACTTCACTGAGGACTTCTT	0.597													A	122691360	G	A	122691360	3	1	323	1	0	0	0	0	1	0	0	0	1264	1291	45	2	568	2	B3GNT4	12	122691360	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2097087	122691360	11160535	62	21630											
NCOR2	9612	broad.mit.edu	37	chr12	124824906	124824906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggacttttcccgctcccGatcccggtcccgctctcgat	4	11	9	17	5	1	0	0	0	1	0	6	4	5	1	4	2	0	2	4	2	0	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr12:124824906G>A	ENST00000356219.3	-	37	5598	c.5443C>T	c.(5443-5445)Cgg>Tgg	p.R1815W	NCOR2_ENST00000404121.2_Missense_Mutation_p.R1369W|NCOR2_ENST00000397355.1_Missense_Mutation_p.R1799W|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1798W|NCOR2_ENST00000405201.1_Missense_Mutation_p.R1808W|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1798W	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1816					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TCCCGCTCCCGATCCCGGTCC	0.647													A	124824906	G	A	124824906	3	1	323	1	0	0	0	0	1	0	0	0	10312	1057	37	1	2170	1	NCOR2	12	124824906	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2133546	124824906	9026989	63	21631											
GJB6	10804	broad.mit.edu	37	chr13	20797370	20797370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcgctggggtggagaCgaagatcagctggagggccc	9	4	18	10	2	1	2	1	0	0	2	1	5	1	3	1	5	3	3	1	5	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr13:20797370C>T	ENST00000356192.6	-	5	870	c.250G>A	c.(250-252)Gtc>Atc	p.V84I	GJB6_ENST00000400066.3_Missense_Mutation_p.V84I|GJB6_ENST00000241124.6_Missense_Mutation_p.V84I|GJB6_ENST00000400065.3_Missense_Mutation_p.V84I	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	84					cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GGGGTGGAGACGAAGATCAGC	0.552													T	20797370	C	T	20797370	3	4	323	1	0	0	0	0	1	0	0	0	6468	536	19	1	539	1	GJB6	13	20797370	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		20797370	94372508	64	21632											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20779890	20779890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaacaggtgtattatccAaaggaaacttggagttgtta	13	13	10	5	1	0	0	0	0	0	0	2	3	1	2	1	3	2	3	1	3	6	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:20779890A>G	ENST00000398169.3	-	7	1269	c.653T>C	c.(652-654)tTg>tCg	p.L218S	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.L218S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.L218S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	218						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		TGTATTATCCAAAGGAAACTT	0.388			T	HMGA2	leiomyoma								G	20779890	A	G	20779890	3	3	323	1	0	0	0	0	1	0	0	0	2942	131	5	3	184	3	CCNB1IP1	14	20779890	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08		20779890	86569650	65	21633											
RNASE8	122665	broad.mit.edu	37	chr14	21526423	21526423	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaggtacaaagagaagcaCctgaacacaccttacatagt	16	7	8	10	0	0	2	0	1	0	1	0	3	0	2	2	1	5	3	2	1	6	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21526423C>G	ENST00000308227.2	+	1	443	c.372C>G	c.(370-372)caC>caG	p.H124Q	NDRG2_ENST00000403829.3_Intron	NM_138331.1	NP_612204.1	Q8TDE3	RNAS8_HUMAN	ribonuclease, RNase A family, 8	124						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0188)		AAGAGAAGCACCTGAACACAC	0.537													G	21526423	C	G	21526423	3	3	323	1	0	0	0	0	1	0	0	0	13500	506	18	4	374	4	RNASE8	14	21526423	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	746533	21526423	85823117	66	21634											
METTL3	56339	broad.mit.edu	37	chr14	21971990	21971990	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgggctgtcactacggaaGgttggagacaatgctgcctc	9	9	13	10	1	1	1	1	0	0	1	2	3	1	2	1	4	3	3	1	4	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:21971990G>A	ENST00000298717.4	-	2	286	c.135C>T	c.(133-135)acC>acT	p.T45T	METTL3_ENST00000538267.1_Silent_p.T45T	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	45					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CACTACGGAAGGTTGGAGACA	0.473													A	21971990	G	A	21971990	2	1	323	1	0	0	0	0	0	0	0	1	9576	987	35	2		2	METTL3	14	21971990	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	445567	21971990	85377550	67	21635											
ADCY4	196883	broad.mit.edu	37	chr14	24791275	24791275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggggtcaggagtcacctcGttgcgccggttctggccaat	6	9	15	11	3	3	0	2	0	1	0	4	1	3	1	3	5	1	2	3	5	1	2	rs79119787		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:24791275G>A	ENST00000310677.4	-	21	2696	c.2583C>T	c.(2581-2583)aaC>aaT	p.N861N	ADCY4_ENST00000418030.2_Silent_p.N861N|ADCY4_ENST00000554068.2_Silent_p.N861N	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	861					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAGTCACCTCGTTGCGCCGGT	0.587													A	24791275	G	A	24791275	2	1	323	1	0	0	0	0	0	0	0	1	296	1136	40	1		1	ADCY4	14	24791275	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2819285	24791275	82558265	68	21636											
TRMT5	57570	broad.mit.edu	37	chr14	61446302	61446302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgcatcaatttactgactAtttctttcctcactttaagc	10	17	3	11	1	3	1	2	1	1	0	5	1	4	1	1	0	2	1	1	0	4	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr14:61446302A>C	ENST00000261249.6	-	2	698	c.314T>G	c.(313-315)aTa>aGa	p.I105R	RP11-193F5.1_ENST00000553946.1_RNA	NM_020810.2	NP_065861.2	Q32P41	TRMT5_HUMAN	tRNA methyltransferase 5	105						cytoplasm	tRNA (guanine-N1-)-methyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(1)	11				OV - Ovarian serous cystadenocarcinoma(108;0.0873)		TTTACTGACTATTTCTTTCCT	0.408													C	61446302	A	C	61446302	3	2	323	1	0	0	0	0	1	0	0	0	16668	449	16	5	1231	5	TRMT5	14	61446302	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	36655027	61446302	45903238	69	21637											
TRPM1	4308	broad.mit.edu	37	chr15	31318363	31318363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagaagtgacccggatgCgctcgtcgctggacgactgc	7	9	13	12	5	1	2	1	1	0	1	3	5	1	4	1	2	2	2	1	2	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:31318363C>T	ENST00000542188.1	-	26	3972	c.3659G>A	c.(3658-3660)cGc>cAc	p.R1220H	TRPM1_ENST00000397795.2_Missense_Mutation_p.R1181H|TRPM1_ENST00000256552.6_Missense_Mutation_p.R1203H|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1181					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GACCCGGATGCGCTCGTCGCT	0.632													T	31318363	C	T	31318363	3	4	323	1	0	0	0	0	1	0	0	0	16686	768	27	1	1277	1	TRPM1	15	31318363	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		31318363	71213029	70	21638											
CHAC1	79094	broad.mit.edu	37	chr15	41247728	41247728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaccactgaaggcattggCctatgtggccaccccacaga	11	6	9	15	0	0	2	0	1	0	1	0	2	0	2	6	3	1	1	6	3	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:41247728C>T	ENST00000446533.3	+	3	860	c.551C>T	c.(550-552)gCc>gTc	p.A184V	CHAC1_ENST00000444189.2_Intron|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	184					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		AAGGCATTGGCCTATGTGGCC	0.597													T	41247728	C	T	41247728	3	4	323	1	0	0	0	0	1	0	0	0	3338	739	26	2	561	2	CHAC1	15	41247728	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	9929365	41247728	61283664	71	21639											
SEMA6D	80031	broad.mit.edu	37	chr15	48063381	48063381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaccggcgttctgttgAttccagaaataccctcaatg	11	11	8	11	2	3	3	2	1	1	2	4	3	4	3	3	1	1	2	3	1	3	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:48063381A>G	ENST00000316364.5	+	19	3060	c.2621A>G	c.(2620-2622)gAt>gGt	p.D874G	SEMA6D_ENST00000389428.3_Missense_Mutation_p.D799G|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000537942.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000536845.2_Missense_Mutation_p.D874G|SEMA6D_ENST00000389433.2_Missense_Mutation_p.D855G|SEMA6D_ENST00000558014.1_Missense_Mutation_p.D812G|SEMA6D_ENST00000358066.4_Missense_Mutation_p.D812G|SEMA6D_ENST00000389432.2_Missense_Mutation_p.D831G|SEMA6D_ENST00000354744.4_Missense_Mutation_p.D818G	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	874					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CGTTCTGTTGATTCCAGAAAT	0.438													G	48063381	A	G	48063381	3	3	323	1	0	0	0	0	1	0	0	0	14135	333	12	3	2734	3	SEMA6D	15	48063381	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	6815653	48063381	54468011	72	21640											
CA12	771	broad.mit.edu	37	chr15	63637713	63637713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccgctgacggtgtgctcaGagccgtgcgggtcattcggg	4	9	17	11	5	2	2	2	1	0	1	4	2	3	2	2	3	3	2	2	3	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:63637713G>A	ENST00000178638.3	-	4	832	c.392C>T	c.(391-393)tCt>tTt	p.S131F	CA12_ENST00000344366.3_Missense_Mutation_p.S131F|CA12_ENST00000422263.2_Missense_Mutation_p.S71F	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	131					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	GGTGTGCTCAGAGCCGTGCGG	0.647													A	63637713	G	A	63637713	3	1	323	1	0	0	0	0	1	0	0	0	2539	942	33	2	704	2	CA12	15	63637713	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	15574332	63637713	38893679	73	21641											
CYP11A1	1583	broad.mit.edu	37	chr15	74630950	74630950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctagctcagcgatccGccgtcccagacactgccgca	8	7	8	18	4	2	1	1	0	1	1	5	2	4	1	4	0	3	2	4	0	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:74630950G>A	ENST00000358632.4	-	8	1617	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	CYP11A1_ENST00000268053.6_Missense_Mutation_p.R466W|CYP11A1_ENST00000419019.2_Missense_Mutation_p.R308W	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	466					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCAGCGATCCGCCGTCCCAGA	0.557													A	74630950	G	A	74630950	3	1	323	1	0	0	0	0	1	0	0	0	4177	1086	38	1	177	1	CYP11A1	15	74630950	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10993237	74630950	27900442	74	21642											
LRRK1	79705	broad.mit.edu	37	chr15	101598285	101598285	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgggaagcagacagccTtcttctcatcccagggccag	8	8	12	13	0	2	1	1	0	2	1	4	2	3	2	3	2	2	2	3	2	1	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr15:101598285T>A	ENST00000284395.5	+	30	5009	c.4609T>A	c.(4609-4611)Ttc>Atc	p.F1537I	LRRK1_ENST00000388948.3_Missense_Mutation_p.F1540I|RP11-505E24.2_ENST00000559857.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1540					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGACAGCCTTCTTCTCATC	0.577													A	101598285	T	A	101598285	3	1	323	1	0	0	0	0	1	0	0	0	9102	1609	56	5	4728	5	LRRK1	15	101598285	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	26967335	101598285	933107	75	21643											
ZNF263	10127	broad.mit.edu	37	chr16	3339765	3339765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatctttggtgggaacccacGtttcctgtcactacacagag	10	11	9	11	1	2	1	1	0	1	1	3	2	3	2	2	2	2	1	2	2	3	3	rs149007034		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:3339765G>A	ENST00000219069.5	+	6	2135	c.1259G>A	c.(1258-1260)cGt>cAt	p.R420H	ZNF263_ENST00000538765.1_Missense_Mutation_p.R68H|ZNF263_ENST00000574253.1_3'UTR	NM_005741.4	NP_005732.2	O14978	ZN263_HUMAN	zinc finger protein 263	420					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|skin(4)|urinary_tract(3)	20						GGGAACCCACGTTTCCTGTCA	0.493													A	3339765	G	A	3339765	3	1	323	1	0	0	0	0	1	0	0	0	17904	1145	40	1	1281	1	ZNF263	16	3339765	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		3339765	87014988	76	21644											
FBRS	64319	broad.mit.edu	37	chr16	30680745	30680745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggagctaactggacccGgggccgtggccgctgcccgc	5	5	17	14	4	0	1	0	1	0	0	0	3	0	3	4	5	3	2	4	5	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:30680745G>A	ENST00000356166.6	+	18	3810	c.2722G>A	c.(2722-2724)Ggg>Agg	p.G908R	FBRS_ENST00000287468.5_Missense_Mutation_p.G388R|FBRS_ENST00000568722.1_Missense_Mutation_p.G300R|FBRS_ENST00000395073.2_Missense_Mutation_p.G300R			Q9HAH7	FBRS_HUMAN	fibrosin	388										ovary(1)	1			Colorectal(24;0.103)			AACTGGACCCGGGGCCGTGGC	0.687													A	30680745	G	A	30680745	3	1	323	1	0	0	0	0	1	0	0	0	5756	1116	39	1	1204	1	FBRS	16	30680745	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	27340980	30680745	59674008	77	21645											
CES2	8824	broad.mit.edu	37	chr16	66974478	66974478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgagtctgcgggtggcacGagtgtgtcttcgcttgttgt	3	13	17	8	4	2	0	0	0	2	0	3	2	2	0	0	3	1	3	0	3	0	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:66974478G>A	ENST00000317091.4	+	5	1872	c.888G>A	c.(886-888)acG>acA	p.T296T	CES2_ENST00000417689.1_Silent_p.T296T	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	232					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		CGGGTGGCACGAGTGTGTCTT	0.597													A	66974478	G	A	66974478	2	1	323	1	0	0	0	0	0	0	0	1	3300	1045	37	1		1	CES2	16	66974478	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	36293733	66974478	23380275	78	21646											
KCTD19	146212	broad.mit.edu	37	chr16	67327780	67327781	+	Frame_Shift_Ins	INS	-	-	G																															agtttttgcatgggagtggcINSgggagggtctttggtttcag																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:67327780_67327781insG	ENST00000304372.5	-	12	1939_1940	c.1884_1885insC	c.(1882-1887)cccgccfs	p.A629fs		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	629						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		ATGGGAGTGGCGGGAGGGTCTT	0.54													G	67327781	-	G	67327780	7	5	323	1	0	1	1	0	0	0	0	0	8164	768	27	0	915	0	KCTD19	16	67327780	Frame_Shift_Ins	INS	-	TCGA-DB-A64L-01A-11D-A29Q-08	353302	67327780	23026973	79	21647											
IRF8	3394	broad.mit.edu	37	chr16	85952327	85952327	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgtgttctgcagcggcaaCgccgtggtgtgcaaaggcag	7	7	16	11	5	1	0	0	0	1	0	1	0	1	0	1	3	4	5	1	3	2	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr16:85952327C>T	ENST00000268638.5	+	7	1328	c.906C>T	c.(904-906)aaC>aaT	p.N302N	IRF8_ENST00000562492.1_Silent_p.N98N	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	302					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCAGCGGCAACGCCGTGGTGT	0.657													T	85952327	C	T	85952327	2	4	323	1	0	0	0	0	0	0	0	1	7894	535	19	1		1	IRF8	16	85952327	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	18624547	85952327	4402426	80	21648											
PRPF8	10594	broad.mit.edu	37	chr17	1578465	1578465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttatagttgatgacgacgTtgttcttggctgtcatgtag	7	16	11	7	2	2	2	1	2	1	0	2	3	2	2	1	1	0	5	1	1	3	7			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1578465T>C	ENST00000572621.1	-	19	3306	c.3041A>G	c.(3040-3042)aAc>aGc	p.N1014S	PRPF8_ENST00000304992.6_Missense_Mutation_p.N1014S			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1014						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GATGACGACGTTGTTCTTGGC	0.507													C	1578465	T	C	1578465	3	2	323	1	0	0	0	0	1	0	0	0	12661	1725	60	3	4062	3	PRPF8	17	1578465	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08		1578465	79616745	81	21649											
RPA1	6117	broad.mit.edu	37	chr17	1798390	1798390	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaagtggagacctacaacGtaagtaagggcctgggcagc	13	6	13	9	1	1	1	1	0	0	1	1	2	1	1	2	3	3	3	2	3	5	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:1798390G>A	ENST00000254719.5	+	16	1856		c.e16+1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						GACCTACAACGTAAGTAAGGG	0.493								Nucleotide excision repair (NER)					A	1798390	G	A	1798390	5	1	323	1	0	0	0	0	0	0	1	0	13627	1159	40	1	1809	1	RPA1	17	1798390	Splice_Site	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	219925	1798390	79396820	82	21650											
NLRP1	22861	broad.mit.edu	37	chr17	5437298	5437298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcagtaggggtcatcaCacttggtttcctggacaaag	9	10	11	11	0	3	0	3	0	0	0	4	1	4	1	2	4	0	2	2	4	2	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:5437298C>T	ENST00000345221.3	-	9	3525	c.2971G>A	c.(2971-2973)Gtg>Atg	p.V991M	NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.V961M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V991M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V961M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V991M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V991M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	991					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GGGGTCATCACACTTGGTTTC	0.498													T	5437298	C	T	5437298	3	4	323	1	0	0	0	0	1	0	0	0	10547	478	17	2	1561	2	NLRP1	17	5437298	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3638908	5437298	75757912	83	21651											
MYH4	4622	broad.mit.edu	37	chr17	10368903	10368903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgacggtgacacagaagaGgcccgagtaggtctgtggga	10	7	17	7	2	1	4	0	2	1	2	1	6	1	5	1	4	0	2	1	4	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:10368903G>T	ENST00000255381.2	-	5	471	c.361C>A	c.(361-363)Ctc>Atc	p.L121I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	121	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ACACAGAAGAGGCCCGAGTAG	0.552													T	10368903	G	T	10368903	3	4	323	1	0	0	0	0	1	0	0	0	10113	1000	35	4	5602	4	MYH4	17	10368903	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	4931605	10368903	70826307	84	21652											
DNAH9	1770	broad.mit.edu	37	chr17	11593161	11593161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgcaaacagtttgcccGgcatatccgaaacctggaca	12	7	11	11	2	0	0	0	0	0	0	1	3	1	2	3	3	4	3	3	3	3	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:11593161G>A	ENST00000262442.4	+	20	4090	c.4022G>A	c.(4021-4023)cGg>cAg	p.R1341Q	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1341Q	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTTTGCCCGGCATATCCGA	0.562													A	11593161	G	A	11593161	3	1	323	1	0	0	0	0	1	0	0	0	4647	1116	39	1	4100	1	DNAH9	17	11593161	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	1224258	11593161	69602049	85	21653											
KSR1	8844	broad.mit.edu	37	chr17	25932758	25932758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaagaaagaggtgatgaActaccggcagacgcggcatg	13	6	13	9	3	1	5	1	2	0	3	1	5	1	5	1	3	2	2	1	3	4	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:25932758A>G	ENST00000398988.3	+	16	2013	c.1568A>G	c.(1567-1569)aAc>aGc	p.N523S	KSR1_ENST00000268763.6_Missense_Mutation_p.N523S|KSR1_ENST00000509603.2_Missense_Mutation_p.N638S|KSR1_ENST00000319524.6_Missense_Mutation_p.N660S	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	658					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GAGGTGATGAACTACCGGCAG	0.617													G	25932758	A	G	25932758	3	3	323	1	0	0	0	0	1	0	0	0	8640	43	2	3	1614	3	KSR1	17	25932758	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	14339597	25932758	55262452	86	21654											
GGNBP2	79893	broad.mit.edu	37	chr17	34901690	34901691	+	Frame_Shift_Ins	INS	-	-	C																															gcgggccgggccgggctgggINScccgccgctcccctggcagc																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:34901690_34901691insC	ENST00000485685.2	+	2	409_410	c.117_118insC	c.(118-120)cccfs	p.P40fs	GGNBP2_ENST00000304718.4_Intron			Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678													C	34901691	-	C	34901690	7	5	323	1	0	1	1	0	0	0	0	0	6415	1218	42	0		0	GGNBP2	17	34901690	Frame_Shift_Ins	INS	-	TCGA-DB-A64L-01A-11D-A29Q-08	8968932	34901690	46293520	87	21655											
CSH2	1443	broad.mit.edu	37	chr17	61949673	61949673	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagtccggcggctgccgTcttccagcctctgcaaagtg	5	8	12	16	3	2	0	0	0	2	0	4	0	4	0	5	2	3	2	5	2	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:61949673T>A	ENST00000392886.2	-	5	618	c.467A>T	c.(466-468)gAc>gTc	p.D156V	CSH2_ENST00000345366.7_Missense_Mutation_p.D61V|CSH2_ENST00000336844.5_3'UTR|CSH2_ENST00000560142.1_Missense_Mutation_p.D99V	NM_020991.3	NP_066271.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 2	156					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			endometrium(2)|large_intestine(1)|lung(3)	6						GCGGCTGCCGTCTTCCAGCCT	0.557													A	61949673	T	A	61949673	3	1	323	1	0	0	0	0	1	0	0	0	3974	1667	58	5	190	5	CSH2	17	61949673	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	27047983	61949673	19245537	88	21656											
CD300E	342510	broad.mit.edu	37	chr17	72613294	72613294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccaggtccgagggatcGcgtgaccatgaatccaggac	11	6	12	12	3	0	2	0	2	0	0	3	5	2	4	4	3	1	0	4	3	2	1	rs77873791	by1000genomes	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr17:72613294G>A	ENST00000392619.1	-	2	467	c.432C>T	c.(430-432)cgC>cgT	p.R144R	CD300E_ENST00000328630.3_Silent_p.R117R|CD300E_ENST00000426295.2_Silent_p.R158R	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	117						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CCGAGGGATCGCGTGACCATG	0.537													A	72613294	G	A	72613294	2	1	323	1	0	0	0	0	0	0	0	1	3028	1074	38	1		1	CD300E	17	72613294	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10663621	72613294	8581916	89	21657											
MC5R	4161	broad.mit.edu	37	chr18	13826500	13826500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcaccatgctgctgggcGtgtttaccgtgtgctgggcc	3	11	14	13	3	1	0	1	0	0	0	1	0	1	0	4	2	4	4	4	2	1	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:13826500G>A	ENST00000324750.3	+	1	958	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	246					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCTGCTGGGCGTGTTTACCGT	0.597													A	13826500	G	A	13826500	3	1	323	1	0	0	0	0	1	0	0	0	9442	1145	40	1	738	1	MC5R	18	13826500	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		13826500	64250748	90	21658											
SETBP1	26040	broad.mit.edu	37	chr18	42531834	42531834	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccccttcacacctgtgCgagattggctccctaaagga	10	9	8	14	1	1	1	1	0	0	1	3	3	3	2	4	2	2	1	4	2	3	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:42531834C>T	ENST00000282030.5	+	4	2825	c.2529C>T	c.(2527-2529)tgC>tgT	p.C843C		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	843						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CACACCTGTGCGAGATTGGCT	0.552									Schinzel-Giedion syndrome				T	42531834	C	T	42531834	2	4	323	1	0	0	0	0	0	0	0	1	14222	776	27	1		1	SETBP1	18	42531834	Silent	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	28705334	42531834	35545414	91	21659											
MBD1	4152	broad.mit.edu	37	chr18	47800597	47800597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgccaacgacacttctggcGcttctggttgctgcccccga	5	9	11	16	4	2	0	0	0	2	0	2	2	2	0	3	2	3	3	3	2	1	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:47800597G>A	ENST00000591416.1	-	11	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	MBD1_ENST00000398488.1_Intron|MBD1_ENST00000269468.5_Missense_Mutation_p.R369C|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000591535.1_Missense_Mutation_p.R346C|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000398495.2_Intron|MBD1_ENST00000339998.6_Missense_Mutation_p.R369C|MBD1_ENST00000269471.5_Missense_Mutation_p.R346C|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000382948.5_Missense_Mutation_p.R369C|MBD1_ENST00000353909.3_Missense_Mutation_p.R320C|MBD1_ENST00000585595.1_Missense_Mutation_p.R394C|MBD1_ENST00000457839.2_Missense_Mutation_p.R394C|MBD1_ENST00000424334.2_Missense_Mutation_p.R420C|MBD1_ENST00000588937.1_Missense_Mutation_p.R346C|MBD1_ENST00000585672.1_Missense_Mutation_p.R319C|MBD1_ENST00000398493.1_Intron|MBD1_ENST00000590208.1_Missense_Mutation_p.R369C|MBD1_ENST00000436910.1_Missense_Mutation_p.R346C			Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	369					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CACTTCTGGCGCTTCTGGTTG	0.662													A	47800597	G	A	47800597	3	1	323	1	0	0	0	0	1	0	0	0	9417	1087	38	1	930	1	MBD1	18	47800597	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	5268763	47800597	30276651	92	21660											
MRO	83876	broad.mit.edu	37	chr18	48327796	48327796	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttaacctgactggtgaaaaAttttttccatttcctcccgg	9	15	6	11	1	0	2	0	2	0	0	3	2	3	2	4	2	1	0	4	2	3	5	rs141296827		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr18:48327796A>T	ENST00000428869.2	-	7	766	c.508T>A	c.(508-510)Ttt>Att	p.F170I	MRO_ENST00000256425.2_Missense_Mutation_p.F170I|MRO_ENST00000588444.1_Intron|MRO_ENST00000398439.3_Missense_Mutation_p.F170I|MRO_ENST00000436348.2_Missense_Mutation_p.F184I|MRO_ENST00000431965.2_Intron|MRO_ENST00000587291.1_5'UTR			Q9BYG7	MSTRO_HUMAN	maestro	170						nucleolus	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)|skin(2)	10		Colorectal(6;0.0596)		Colorectal(21;0.082)		CTGGTGAAAAATTTTTTCCAT	0.483													T	48327796	A	T	48327796	3	4	323	1	0	0	0	0	1	0	0	0	9848	101	4	5	250	5	MRO	18	48327796	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	527199	48327796	29749452	93	21661											
BSG	682	broad.mit.edu	37	chr19	579583	579583	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagcgccacagaggtcAcagggcaccgctggctgaag	11	4	14	12	2	1	3	1	2	0	1	1	3	1	3	2	3	1	3	2	3	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:579583A>T	ENST00000333511.3	+	3	569	c.499A>T	c.(499-501)Aca>Tca	p.T167S	BSG_ENST00000574970.1_3'UTR|BSG_ENST00000353555.4_Missense_Mutation_p.T51S|BSG_ENST00000545507.2_5'UTR|BSG_ENST00000346916.4_Intron	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	167	Ig-like C2-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|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)		CACAGAGGTCACAGGGCACCG	0.632													T	579583	A	T	579583	3	4	323	1	0	0	0	0	1	0	0	0	1538	159	6	5	545	5	BSG	19	579583	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08		579583	58549400	94	21662											
UQCR11	10975	broad.mit.edu	37	chr19	1605408	1605408	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggaaccgggtcaccaTcgcggcggagtcgcaccctc	7	4	13	17	5	1	0	1	0	0	0	4	2	1	2	4	4	1	1	4	4	1	0			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:1605408T>C	ENST00000591899.3	-	1	72	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	UQCR11_ENST00000585937.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000585671.1_Start_Codon_SNP_p.M1V|UQCR11_ENST00000593029.1_5'UTR|UQCR11_ENST00000589880.1_Start_Codon_SNP_p.M1V	NM_006830.3	NP_006821.1	O14957	QCR10_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit XI	1					respiratory electron transport chain	integral to membrane|mitochondrial inner membrane|respiratory chain	electron carrier activity			breast(1)|lung(2)|ovary(1)|prostate(1)	5						CGGGTCACCATCGCGGCGGAG	0.766													C	1605408	T	C	1605408	1	2	323	1	0	0	0	0	0	0	0	0	17119	1435	50	3		3	UQCR11	19	1605408	Translation_Start_Site	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	1025825	1605408	57523575	95	21663											
MAN2B1	4125	broad.mit.edu	37	chr19	12763077	12763077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgttgtcacctatactggCgttgtacctggagttggggc	5	14	13	9	2	1	0	1	0	0	0	2	1	1	1	2	4	2	4	2	4	3	7	rs148661421		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:12763077C>T	ENST00000456935.2	-	16	1976	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A645T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	646					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTATACTGGCGTTGTACCTG	0.592													T	12763077	C	T	12763077	3	4	323	1	0	0	0	0	1	0	0	0	9291	768	27	1	1135	1	MAN2B1	19	12763077	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	11157669	12763077	46365906	96	21664											
ZNF208	7757	broad.mit.edu	37	chr19	22155989	22155989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagaccttactaaaggttTtgccacattcttcacatttg	10	16	6	9	0	2	1	1	1	1	1	2	2	2	1	2	1	2	1	2	1	3	8			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:22155989T>C	ENST00000397126.4	-	4	1995	c.1847A>G	c.(1846-1848)aAa>aGa	p.K616R	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ACTAAAGGTTTTGCCACATTC	0.368													C	22155989	T	C	22155989	3	2	323	1	0	0	0	0	1	0	0	0	17867	1841	64	3	1999	3	ZNF208	19	22155989	Missense_Mutation	SNP	T	TCGA-DB-A64L-01A-11D-A29Q-08	9392912	22155989	36972994	97	21665											
CIC	23152	broad.mit.edu	37	chr19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															ctggacggcggagaagtagaCagtcaggcgctacaggaact																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:42793215_42793218delCAGT	ENST00000572681.2	+	8	3902_3905	c.3834_3837delCAGT	c.(3832-3837)gacagtfs	p.DS1278fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								-	42793218	CAGT	-	42793215	7	5	323	1	0	1	0	1	0	0	0	0	3454	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-DB-A64L-01A-11D-A29Q-08	20637226	42793215	16335768	98	21666											
LMTK3	114783	broad.mit.edu	37	chr19	48994758	48994758	+	Frame_Shift_Del	DEL	G	G	-																															gacgggtccgtgtccccctcGgggggggcctggacgctcag																										TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:48994758delG	ENST00000600059.1	-	13	4358	c.4131delC	c.(4129-4131)cccfs	p.P1377fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P1406fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		TGTCCCCCTCGGGGGGGGCCT	0.662													-	48994758	G	-	48994758	7	5	323	1	0	1	0	1	0	0	0	0	8921	1103	39	0	263	0	LMTK3	19	48994758	Frame_Shift_Del	DEL	G	TCGA-DB-A64L-01A-11D-A29Q-08	6201543	48994758	10134225	99	21667											
KLK15	55554	broad.mit.edu	37	chr19	51330971	51330971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggagatgagggaagcGccacagttaaagcgtccacg	11	6	16	8	3	0	2	0	1	0	1	1	4	1	3	2	3	2	1	2	3	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:51330971G>A	ENST00000326856.4	-	3	270	c.141C>T	c.(139-141)ggC>ggT	p.G47G	KLK15_ENST00000416184.1_Silent_p.G48G|KLK15_ENST00000596931.1_Silent_p.G47G|KLK15_ENST00000301421.2_Silent_p.G48G|KLK15_ENST00000598239.1_Silent_p.G48G	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	48	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		TGAGGGAAGCGCCACAGTTAA	0.632													A	51330971	G	A	51330971	2	1	323	1	0	0	0	0	0	0	0	1	8461	1074	38	1		1	KLK15	19	51330971	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	2336213	51330971	7798012	100	21668											
NLRP5	126206	broad.mit.edu	37	chr19	56515215	56515215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttttccagctacgggctgCaatggtgtctctatgagcta	7	13	10	11	1	1	1	0	1	1	0	3	1	2	1	2	2	4	4	2	2	4	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:56515215C>A	ENST00000390649.3	+	2	196	c.196C>A	c.(196-198)Caa>Aaa	p.Q66K		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	66	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CTACGGGCTGCAATGGTGTCT	0.418													A	56515215	C	A	56515215	3	1	323	1	0	0	0	0	1	0	0	0	10556	711	25	4	202	4	NLRP5	19	56515215	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	5184244	56515215	2613768	101	21669											
ZBTB45	84878	broad.mit.edu	37	chr19	59028371	59028371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgcctgggccgccaccttCgccatcctcgccatcggtct	3	9	9	20	5	1	0	0	0	1	0	6	0	2	0	7	2	0	0	7	2	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr19:59028371C>T	ENST00000594051.1	-	2	1150	c.670G>A	c.(670-672)Gaa>Aaa	p.E224K	ZBTB45_ENST00000354590.3_Missense_Mutation_p.E224K|ZBTB45_ENST00000600990.1_Missense_Mutation_p.E224K			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		CCGCCACCTTCGCCATCCTCG	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59028371	C	T	59028371	3	4	323	1	0	0	0	0	1	0	0	0	17647	893	31	1	873	1	ZBTB45	19	59028371	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	2513156	59028371	100612	102	21670											
SIGLEC1	6614	broad.mit.edu	37	chr20	3674159	3674159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggggggcccacaccgcagCggtaggaggtggcatccctg	7	4	17	13	2	0	0	0	0	0	0	1	1	1	1	3	7	1	3	3	7	1	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:3674159C>A	ENST00000344754.4	-	13	3442	c.3443G>T	c.(3442-3444)cGc>cTc	p.R1148L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R1148L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1148	Ig-like C2-type 11.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CACACCGCAGCGGTAGGAGGT	0.657													A	3674159	C	A	3674159	3	1	323	1	0	0	0	0	1	0	0	0	14399	768	27	4	1722	4	SIGLEC1	20	3674159	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08		3674159	59351361	103	21671											
CD93	22918	broad.mit.edu	37	chr20	23065099	23065099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaagcagcttttgcccGtcagtgccatcgttgttttg	9	14	9	9	2	1	0	1	0	0	0	2	0	1	0	2	0	4	4	2	0	3	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:23065099G>A	ENST00000246006.4	-	1	1878	c.1731C>T	c.(1729-1731)gaC>gaT	p.D577D		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	577					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCTTTTGCCCGTCAGTGCCAT	0.617													A	23065099	G	A	23065099	2	1	323	1	0	0	0	0	0	0	0	1	3077	1136	40	1		1	CD93	20	23065099	Silent	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	19390940	23065099	39960421	104	21672											
GSS	2937	broad.mit.edu	37	chr20	33533879	33533879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagtgaggggaagagcGtgaatggggcatagctcacc	11	5	17	8	1	1	3	1	2	0	1	1	5	1	5	2	5	2	2	2	5	3	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:33533879G>A	ENST00000216951.2	-	3	250	c.152C>T	c.(151-153)aCg>aTg	p.T51M	GSS_ENST00000451957.2_Missense_Mutation_p.T51M|GSS_ENST00000541098.1_De_novo_Start_InFrame	NM_000178.2	NP_000169.1	P48637	GSHB_HUMAN	glutathione synthetase	51					nervous system development|response to oxidative stress|xenobiotic metabolic process	cytosol	ATP binding|glutathione binding|glutathione synthase activity|magnesium ion binding|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(18;0.035)		Glutathione(DB00143)|Glycine(DB00145)|L-Cysteine(DB00151)	GGGGAAGAGCGTGAATGGGGC	0.567													A	33533879	G	A	33533879	3	1	323	1	0	0	0	0	1	0	0	0	6884	1145	40	1	1316	1	GSS	20	33533879	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	10468780	33533879	29491641	105	21673											
VSTM2L	128434	broad.mit.edu	37	chr20	36560093	36560093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgggcgaggacgtggagAtggcctgctccttccgcggc	5	6	18	12	5	0	1	0	0	0	1	2	5	2	3	3	6	1	1	3	6	0	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr20:36560093A>G	ENST00000373461.4	+	2	425	c.178A>G	c.(178-180)Atg>Gtg	p.M60V	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.M60V	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	60	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GGACGTGGAGATGGCCTGCTC	0.632													G	36560093	A	G	36560093	3	3	323	1	0	0	0	0	1	0	0	0	17332	333	12	3	184	3	VSTM2L	20	36560093	Missense_Mutation	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	3026214	36560093	26465427	106	21674											
KCNJ15	3772	broad.mit.edu	37	chr21	39671497	39671497	+	Frame_Shift_Del	DEL	C	C	-																															tgagcccatttcaaatcataCcccctgcatcatgaaagtgg																								rs148451839	byFrequency	TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:39671497delC	ENST00000328656.4	+	4	617	c.314delC	c.(313-315)accfs	p.T105fs	KCNJ15_ENST00000398934.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398938.2_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398930.1_Frame_Shift_Del_p.T105fs|KCNJ15_ENST00000398932.1_Frame_Shift_Del_p.T105fs	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						TCAAATCATACCCCCTGCATC	0.488													-	39671497	C	-	39671497	7	5	323	1	0	1	0	1	0	0	0	0	8107	507	18	0	316	0	KCNJ15	21	39671497	Frame_Shift_Del	DEL	C	TCGA-DB-A64L-01A-11D-A29Q-08		39671497	8458398	107	21675											
FTCD	10841	broad.mit.edu	37	chr21	47571515	47571515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcaggttgagcgcgatgCggtgggcttgctcctttgtg	3	11	16	11	4	0	1	0	1	0	0	1	2	1	1	2	3	3	4	2	3	0	3	rs142358848		TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chr21:47571515C>T	ENST00000397748.1	-	5	636	c.593G>A	c.(592-594)cGc>cAc	p.R198H	FTCD_ENST00000355384.2_Missense_Mutation_p.R198H|FTCD_ENST00000359679.2_Missense_Mutation_p.R198H|FTCD_ENST00000291670.5_Missense_Mutation_p.R198H|FTCD_ENST00000397743.1_Missense_Mutation_p.R198H|FTCD_ENST00000397746.3_Missense_Mutation_p.R198H|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	198	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAGCGCGATGCGGTGGGCTTG	0.642													T	47571515	C	T	47571515	3	4	323	1	0	0	0	0	1	0	0	0	6133	768	27	1	1072	1	FTCD	21	47571515	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	7900018	47571515	558380	108	21676											
SHROOM2	357	broad.mit.edu	37	chrX	9900279	9900279	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcacccaccgagtcagaagGcaccgaacccacccacattc	13	3	7	18	2	1	1	1	0	0	1	2	3	1	1	5	1	2	2	5	1	2	1			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:9900279G>C	ENST00000380913.3	+	6	3046	c.2956G>C	c.(2956-2958)Gca>Cca	p.A986P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	986					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GAGTCAGAAGGCACCGAACCC	0.587													C	9900279	G	C	9900279	3	2	323	1	0	0	0	0	1	0	0	0	14388	1203	42	4	2978	4	SHROOM2	23	9900279	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08		9900279	145370281	109	21677											
GPM6B	2824	broad.mit.edu	37	chrX	13795537	13795537	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggaaagcattccaaggAatgatacctgtaaaatgaac	16	7	10	8	1	0	2	0	2	0	0	1	4	1	4	3	3	3	2	3	3	7	3			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:13795537A>G	ENST00000454189.2	-	5	655	c.528T>C	c.(526-528)atT>atC	p.I176I	GPM6B_ENST00000316715.4_Silent_p.I235I|GPM6B_ENST00000493677.1_Silent_p.I209I|GPM6B_ENST00000355135.2_Silent_p.I235I|GPM6B_ENST00000356942.5_Silent_p.I195I|GPM6B_ENST00000398361.3_Silent_p.I109I	NM_001001994.1	NP_001001994.1	Q13491	GPM6B_HUMAN	glycoprotein M6B	195					cell differentiation|nervous system development	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)|pancreas(1)	6						CATTCCAAGGAATGATACCTG	0.438													G	13795537	A	G	13795537	2	3	323	1	0	0	0	0	0	0	0	1	6670	242	9	3		3	GPM6B	23	13795537	Silent	SNP	A	TCGA-DB-A64L-01A-11D-A29Q-08	3895258	13795537	141475023	110	21678											
REPS2	9185	broad.mit.edu	37	chrX	17065569	17065569	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactatgtcaatcagttcCgatcccttcagccagaccca	11	10	6	14	1	3	1	3	0	0	1	5	2	5	1	4	0	2	2	4	0	3	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17065569C>T	ENST00000357277.3	+	6	1042	c.871C>T	c.(871-873)Cga>Tga	p.R291*	REPS2_ENST00000303843.7_Nonsense_Mutation_p.R290*|REPS2_ENST00000380064.4_Nonsense_Mutation_p.R151*	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	291	EH 2.				epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAATCAGTTCCGATCCCTTCA	0.488													T	17065569	C	T	17065569	4	4	323	1	0	0	0	0	0	1	0	0	13317	644	23	1	893	1	REPS2	23	17065569	Nonsense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	3270032	17065569	138204991	111	21679											
NHS	4810	broad.mit.edu	37	chrX	17394316	17394316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcggacgtggcccggcacGcttgcagcctcttccaggag	5	8	13	15	4	2	0	0	0	2	0	4	2	3	2	3	4	2	3	3	4	0	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:17394316G>A	ENST00000380060.3	+	1	774	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	146						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GGCCCGGCACGCTTGCAGCCT	0.726													A	17394316	G	A	17394316	3	1	323	1	0	0	0	0	1	0	0	0	10487	1087	38	1	438	1	NHS	23	17394316	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	328747	17394316	137876244	112	21680											
FAM47A	158724	broad.mit.edu	37	chrX	34150160	34150160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacctctgagagatattttgGggagtaaaaactcgtcacgg	12	10	12	7	2	2	2	1	1	1	1	3	5	2	3	1	3	1	1	1	3	4	4			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:34150160G>A	ENST00000346193.3	-	1	287	c.236C>T	c.(235-237)cCc>cTc	p.P79L		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	79										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						AGATATTTTGGGGAGTAAAAA	0.532													A	34150160	G	A	34150160	3	1	323	1	0	0	0	0	1	0	0	0	5620	1232	43	2	2143	2	FAM47A	23	34150160	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	16755844	34150160	121120400	113	21681											
USP9X	8239	broad.mit.edu	37	chrX	41075260	41075260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtgcaatcaagttcaatGattattttgaatttcctcga	13	16	6	6	1	2	2	2	2	0	0	4	3	3	2	1	0	1	2	1	0	6	5			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:41075260G>A	ENST00000324545.8	+	35	6073	c.5440G>A	c.(5440-5442)Gat>Aat	p.D1814N	USP9X_ENST00000378308.2_Missense_Mutation_p.D1814N	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAAGTTCAATGATTATTTTGA	0.408													A	41075260	G	A	41075260	3	1	323	1	0	0	0	0	1	0	0	0	17192	1290	45	2	5574	2	USP9X	23	41075260	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	6925100	41075260	114195300	114	21682											
AKAP4	8852	broad.mit.edu	37	chrX	49957836	49957836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagtttccttgcttttGgttccagatggttaggccct	5	16	11	9	0	0	2	0	1	0	1	2	2	2	2	3	3	1	5	3	3	1	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:49957836G>T	ENST00000376056.2	-	5	1651	c.1501C>A	c.(1501-1503)Caa>Aaa	p.Q501K	AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.Q510K|AKAP4_ENST00000376064.3_Missense_Mutation_p.Q501K			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	510					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CCTTGCTTTTGGTTCCAGATG	0.453													T	49957836	G	T	49957836	3	4	323	1	0	0	0	0	1	0	0	0	453	1357	47	4	1044	4	AKAP4	23	49957836	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	8882576	49957836	105312724	115	21683											
MORC4	79710	broad.mit.edu	37	chrX	106224616	106224616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtagctcagaggtaacacCgccagtcattttttcttctg	8	14	9	10	1	4	1	2	0	2	1	4	1	4	1	2	2	2	3	2	2	2	6			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:106224616C>A	ENST00000355610.4	-	6	1040	c.766G>T	c.(766-768)Ggt>Tgt	p.G256C	MORC4_ENST00000255495.7_Missense_Mutation_p.G256C|MORC4_ENST00000535534.1_Missense_Mutation_p.G4C	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	256							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GAGGTAACACCGCCAGTCATT	0.353													A	106224616	C	A	106224616	3	1	323	1	0	0	0	0	1	0	0	0	9780	652	23	4	2095	4	MORC4	23	106224616	Missense_Mutation	SNP	C	TCGA-DB-A64L-01A-11D-A29Q-08	56266780	106224616	49045944	116	21684											
IRS4	8471	broad.mit.edu	37	chrX	107978515	107978515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctcctagcggacagcaGggttaacaggtgggcgccga	8	6	16	11	3	0	0	0	0	0	0	1	2	1	1	3	4	4	2	3	4	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:107978515G>T	ENST00000372129.2	-	1	1136	c.1060C>A	c.(1060-1062)Ctg>Atg	p.L354M		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	354						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCGGACAGCAGGGTTAACAGG	0.612													T	107978515	G	T	107978515	3	4	323	1	0	0	0	0	1	0	0	0	7900	991	35	4	2717	4	IRS4	23	107978515	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	1753899	107978515	47292045	117	21685											
PNMA3	29944	broad.mit.edu	37	chrX	152226308	152226308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctgaaacgagtcttaaGtggggccacccttcctgaca	9	9	10	13	2	1	2	0	2	1	0	3	3	2	2	4	2	1	0	4	2	2	2			TCGA-DB-A64L-01A-11D-A29Q-08	TCGA-DB-A64L-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d76920e6-de91-44c6-a5ba-98d68160b97b	48f07e33-5a95-4c81-bc74-94f9238ae1c9	g.chrX:152226308G>T	ENST00000447306.1	+	2	1232	c.896G>T	c.(895-897)aGt>aTt	p.S299I	PNMA3_ENST00000370264.4_Missense_Mutation_p.S299I|PNMA3_ENST00000370265.4_Missense_Mutation_p.S299I	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	299					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					cgagtcttaagtggggccacc	0.502													T	152226308	G	T	152226308	3	4	323	1	0	0	0	0	1	0	0	0	12232	1029	36	4	898	4	PNMA3	23	152226308	Missense_Mutation	SNP	G	TCGA-DB-A64L-01A-11D-A29Q-08	44247793	152226308	3044252	118	21686											
NEGR1	257194	broad.mit.edu	37	chr1	72748064	72748065	+	Frame_Shift_Del	DEL	CA	CA	-																															acggccgcccaggggaagtcCacactctgtccagccgggag																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:72748064_72748065delCA	ENST00000357731.5	-	1	352_353	c.113_114delTG	c.(112-114)gtgfs	p.V38fs	NEGR1_ENST00000434200.1_Frame_Shift_Del_p.V36fs	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 1.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGGGGAAGTCCACACTCTGTCC	0.614													-	72748065	CA	-	72748064	7	5	324	1	0	1	0	1	0	0	0	0	10393	581	21	0	978	0	NEGR1	1	72748064	Frame_Shift_Del	DEL	CA	TCGA-DB-A64O-01A-11D-A29Q-08		72748064	176502557	1	21687											
NLRP3	114548	broad.mit.edu	37	chr1	247587695	247587695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacgagcacataggacCgctctgcactgactggcaga	10	8	11	12	2	1	3	0	2	1	1	1	5	1	4	1	2	2	4	1	2	1	2			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr1:247587695C>T	ENST00000366497.2	+	4	1730	c.950C>T	c.(949-951)cCg>cTg	p.P317L	NLRP3_ENST00000348069.2_Missense_Mutation_p.P317L|NLRP3_ENST00000336119.3_Missense_Mutation_p.P317L|NLRP3_ENST00000366496.2_Missense_Mutation_p.P317L|NLRP3_ENST00000391828.3_Missense_Mutation_p.P317L|NLRP3_ENST00000391827.2_Missense_Mutation_p.P317L|NLRP3_ENST00000474792.1_3'UTR	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	317	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CACATAGGACCGCTCTGCACT	0.567													T	247587695	C	T	247587695	3	4	324	1	0	0	0	0	1	0	0	0	10554	652	23	1	960	1	NLRP3	1	247587695	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	174839631	247587695	1662926	2	21688											
BIRC6	57448	broad.mit.edu	37	chr2	32724735	32724735	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccgtgatagaatcggttAcatttttagtgcaccactat	10	14	8	9	2	0	2	0	1	0	1	1	2	0	2	2	1	3	2	2	1	5	6			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr2:32724735A>T	ENST00000421745.2	+	46	8724	c.8590A>T	c.(8590-8592)Aca>Tca	p.T2864S		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2864					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AGAATCGGTTACATTTTTAGT	0.443													T	32724735	A	T	32724735	3	4	324	1	0	0	0	0	1	0	0	0	1444	391	14	5	8772	5	BIRC6	2	32724735	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		32724735	210474638	3	21689											
FANCD2	2177	broad.mit.edu	37	chr3	10085520	10085520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttttttcaggcaattgAaaacactgcctcagtatctg	10	14	7	10	0	3	1	2	1	1	0	3	1	3	1	2	1	2	3	2	1	4	5			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:10085520A>G	ENST00000287647.3	+	14	1199	c.1106A>G	c.(1105-1107)gAa>gGa	p.E369G	FANCD2_ENST00000383807.1_Missense_Mutation_p.E369G|FANCD2_ENST00000383806.1_Missense_Mutation_p.E369G|FANCD2_ENST00000419585.1_Missense_Mutation_p.E369G	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	369					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		CAGGCAATTGAAAACACTGCC	0.388			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	10085520	A	G	10085520	3	3	324	1	0	0	0	0	1	0	0	0	5714	246	9	3	1156	3	FANCD2	3	10085520	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		10085520	187936910	4	21690											
CPN2	1370	broad.mit.edu	37	chr3	194062520	194062520	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgggcaaaggtgccctcagcGacagtctccagctggttatg	8	9	13	11	1	2	0	1	0	1	0	3	1	2	0	2	3	3	3	2	3	2	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr3:194062520G>C	ENST00000323830.3	-	2	1001	c.912C>G	c.(910-912)gtC>gtG	p.V304V	CPN2_ENST00000429275.1_Silent_p.V304V	NM_001080513.2	NP_001073982	P22792	CPN2_HUMAN	carboxypeptidase N, polypeptide 2	304					protein stabilization	extracellular region	enzyme regulator activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(5)|prostate(1)	27	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.65e-05)		TGCCCTCAGCGACAGTCTCCA	0.602													C	194062520	G	C	194062520	2	2	324	1	0	0	0	0	0	0	0	1	3841	1045	37	4		4	CPN2	3	194062520	Silent	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08	183977000	194062520	3959910	5	21691											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	6	8	12	15	3	0	0	0	0	0	0	1	1	1	1	3	3	6	4	3	3	3	2			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													A	60241050	G	A	60241050	1	1	324	1	0	0	0	0	0	0	0	0	10351	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		60241050	120674210	6	21692											
SLC12A2	6558	broad.mit.edu	37	chr5	127448571	127448571	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagagatgctgtggtcacGtatactgcagaaagtaaagg	14	8	12	7	1	1	2	1	0	0	2	1	3	1	2	1	2	3	4	1	2	5	3			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:127448571G>A	ENST00000262461.2	+	2	1011	c.822G>A	c.(820-822)acG>acA	p.T274T	SLC12A2_ENST00000343225.4_Silent_p.T274T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	274					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGTGGTCACGTATACTGCAG	0.368													A	127448571	G	A	127448571	2	1	324	1	0	0	0	0	0	0	0	1	14477	1132	40	1		1	SLC12A2	5	127448571	Silent	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08	67207521	127448571	53466689	7	21693											
GABRB2	2561	broad.mit.edu	37	chr5	160721230	160721230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcgcgtctcctcaggCgacttttcttttgcgccaca	5	11	12	13	4	3	0	1	0	2	0	4	2	3	1	2	3	1	0	2	3	0	4			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr5:160721230C>T	ENST00000274547.2	-	11	1614	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	GABRB2_ENST00000353437.6_Missense_Mutation_p.R428H|GABRB2_ENST00000520240.1_Missense_Mutation_p.R428H|GABRB2_ENST00000393959.1_Missense_Mutation_p.R466H|GABRB2_ENST00000517547.1_Missense_Mutation_p.R268H|GABRB2_ENST00000517901.1_Missense_Mutation_p.R365H	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	466					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TCTCCTCAGGCGACTTTTCTT	0.517													T	160721230	C	T	160721230	3	4	324	1	0	0	0	0	1	0	0	0	6219	768	27	1	145	1	GABRB2	5	160721230	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	33272659	160721230	20194030	8	21694											
TULP1	7287	broad.mit.edu	37	chr6	35474051	35474051	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccggcaggacaactcacCgctttctgtgtgcggagaga	9	7	13	12	3	2	1	1	0	1	1	2	4	2	3	2	3	3	2	2	3	1	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:35474051C>T	ENST00000229771.6	-	9	907	c.828G>A	c.(826-828)gcG>gcA	p.A276A	TULP1_ENST00000322263.4_Splice_Site_p.A223A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	276					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						GACAACTCACCGCTTTCTGTG	0.687													T	35474051	C	T	35474051	5	4	324	1	0	0	0	0	0	0	1	0	16875	666	23	1	828	1	TULP1	6	35474051	Splice_Site	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		35474051	135641016	9	21695											
PHF3	23469	broad.mit.edu	37	chr6	64422286	64422286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacagcttcaggaagatcAagagaataatttgcaagata	19	8	9	5	0	2	4	2	0	0	4	2	6	2	5	0	1	2	2	0	1	7	4			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr6:64422286A>G	ENST00000262043.3	+	16	5142	c.4802A>G	c.(4801-4803)cAa>cGa	p.Q1601R	PHF3_ENST00000393387.1_Missense_Mutation_p.Q1601R			Q92576	PHF3_HUMAN	PHD finger protein 3	1601					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			CAGGAAGATCAAGAGAATAAT	0.333													G	64422286	A	G	64422286	3	3	324	1	0	0	0	0	1	0	0	0	11913	130	5	3	4860	3	PHF3	6	64422286	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08	28948235	64422286	106692781	10	21696											
PEG10	23089	broad.mit.edu	37	chr7	94293706	94293706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtgggaggtgcccgcatgCgcctgacgcaggaagaaaaa	11	4	16	10	4	0	2	0	1	0	1	0	4	0	4	2	4	2	2	2	4	3	0			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr7:94293706C>T	ENST00000482108.1	+	2	1317	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	PEG10_ENST00000488574.1_Missense_Mutation_p.R280C	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	280					apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGCCCGCATGCGCCTGACGCA	0.602													T	94293706	C	T	94293706	3	4	324	1	0	0	0	0	1	0	0	0	11795	768	27	1	1072	1	PEG10	7	94293706	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		94293706	64844957	11	21697											
GRIN1	2902	broad.mit.edu	37	chr9	140061869	140061869	+	Frame_Shift_Del	DEL	G	G	-																															gttcttatttatagagcaccGggggtggacgcggcgctttg																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr9:140061869delG	ENST00000371561.3	+	20	3804	c.2707delG	c.(2707-2709)gggfs	p.G905fs	GRIN1_ENST00000371555.4_Frame_Shift_Del_p.G889fs|GRIN1_ENST00000371559.4_Intron|GRIN1_ENST00000371546.4_Frame_Shift_Del_p.G926fs|GRIN1_ENST00000371550.4_Frame_Shift_Del_p.G868fs|GRIN1_ENST00000315048.3_Intron|GRIN1_ENST00000371553.3_Intron|GRIN1_ENST00000371560.3_Intron	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	905					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	ATAGAGCACCGGGGGTGGACG	0.647													-	140061869	G	-	140061869	7	5	324	1	0	1	0	1	0	0	0	0	6833	1116	39	0	2852	0	GRIN1	9	140061869	Frame_Shift_Del	DEL	G	TCGA-DB-A64O-01A-11D-A29Q-08		140061869	1151562	12	21698											
HPS6	79803	broad.mit.edu	37	chr10	103827403	103827403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccaaccccattccctgaGcctggagcagagccccctct	7	6	7	21	0	1	2	0	1	1	1	2	3	2	3	8	1	4	1	8	1	1	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:103827403G>T	ENST00000299238.5	+	1	2257	c.2172G>T	c.(2170-2172)gaG>gaT	p.E724D		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	724						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		CATTCCCTGAGCCTGGAGCAG	0.617									Hermansky-Pudlak syndrome				T	103827403	G	T	103827403	3	4	324	1	0	0	0	0	1	0	0	0	7398	962	34	4	2174	4	HPS6	10	103827403	Missense_Mutation	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		103827403	31707344	13	21699											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396277	+	RNA	DEL	G	G	-																															ttgactaacagacaaattatGgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													-	118396277	G	-	118396277	6	5	324	0	1	1	0	1	0	0	0	0	12228	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-DB-A64O-01A-11D-A29Q-08	14568874	118396277	17138470	14	21700											
AMOTL1	154810	broad.mit.edu	37	chr11	94554782	94554782	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccagcgggccactgcActctgtctccctgccgcttc	3	10	9	19	3	2	0	0	0	2	0	5	0	3	0	5	1	3	2	5	1	0	2			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:94554782A>G	ENST00000433060.2	+	4	1349	c.1208A>G	c.(1207-1209)cAc>cGc	p.H403R	AMOTL1_ENST00000317829.8_Missense_Mutation_p.H353R|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	403						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GGGCCACTGCACTCTGTCTCC	0.667													G	94554782	A	G	94554782	3	3	324	1	0	0	0	0	1	0	0	0	583	159	6	3	1222	3	AMOTL1	11	94554782	Missense_Mutation	SNP	A	TCGA-DB-A64O-01A-11D-A29Q-08		94554782	40451734	15	21701											
TMEM133	83935	broad.mit.edu	37	chr11	100863216	100863216	+	Frame_Shift_Del	DEL	C	C	-																															tttttgttaccttccaaaatCaagacacttttaagaaacaa																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr11:100863216delC	ENST00000303130.2	+	1	406	c.177delC	c.(175-177)atcfs	p.I59fs		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	59						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		CTTCCAAAATCAAGACACTTT	0.388													-	100863216	C	-	100863216	7	5	324	1	0	1	0	1	0	0	0	0	16149	816	29	0	179	0	TMEM133	11	100863216	Frame_Shift_Del	DEL	C	TCGA-DB-A64O-01A-11D-A29Q-08	6308434	100863216	34143300	16	21702											
ABR	29	broad.mit.edu	37	chr17	1028592	1028592	+	Missense_Mutation	SNP	G	G	C																															gctgcgggcgctgagctgcgGggacatggtgggcgactcat																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028592G>C	ENST00000544583.2	-	2	633	c.34C>G	c.(34-36)Ccg>Gcg	p.P12A	ABR_ENST00000574437.1_Missense_Mutation_p.P12A|ABR_ENST00000302538.5_Missense_Mutation_p.P58A	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	58					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		CTGAGCTGCGGGGACATGGTG	0.672													C	1028592	G	C	1028592	3	2	324	1	0	0	0	0	1	0	0	0	99	1232	43	4	2634	4	ABR	17	1028592	Missense_Mutation	SNP	G	TCGA-DB-A64O-01A-11D-A29Q-08		1028592	80166618	17	21703	31	3									
ABR	29	broad.mit.edu	37	chr17	1028596	1028596	+	Missense_Mutation	SNP	C	C	A																															cgggcgctgagctgcggggaCatggtgggcgactcatcgat																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028596C>A	ENST00000544583.2	-	2	629	c.30G>T	c.(28-30)atG>atT	p.M10I	ABR_ENST00000574437.1_Missense_Mutation_p.M10I|ABR_ENST00000302538.5_Missense_Mutation_p.M56I	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		GCTGCGGGGACATGGTGGGCG	0.667													A	1028596	C	A	1028596	3	1	324	1	0	0	0	0	1	0	0	0	99	478	17	4	2638	4	ABR	17	1028596	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	4	1028596	80166614	18	21704	31	3									
ABR	29	broad.mit.edu	37	chr17	1028598	1028598	+	Missense_Mutation	SNP	T	T	A																															ggcgctgagctgcggggacaTggtgggcgactcatcgatgt																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:1028598T>A	ENST00000544583.2	-	2	627	c.28A>T	c.(28-30)Atg>Ttg	p.M10L	ABR_ENST00000574437.1_Missense_Mutation_p.M10L|ABR_ENST00000302538.5_Missense_Mutation_p.M56L	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	56					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TGCGGGGACATGGTGGGCGAC	0.672													A	1028598	T	A	1028598	3	1	324	1	0	0	0	0	1	0	0	0	99	1464	51	5	2640	5	ABR	17	1028598	Missense_Mutation	SNP	T	TCGA-DB-A64O-01A-11D-A29Q-08	2	1028598	80166612	19	21705	31	3									
MYH4	4622	broad.mit.edu	37	chr17	10348604	10348604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgcgggcttcctggaCgatgtcctccatctctccct	4	13	9	15	2	1	0	0	0	1	0	6	2	5	1	4	2	2	2	4	2	0	2	rs144889690	byFrequency	TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10348604C>T	ENST00000255381.2	-	36	5355	c.5245G>A	c.(5245-5247)Gtc>Atc	p.V1749I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1749					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCTTCCTGGACGATGTCCTCC	0.468													T	10348604	C	T	10348604	3	4	324	1	0	0	0	0	1	0	0	0	10113	536	19	1	594	1	MYH4	17	10348604	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	9320006	10348604	70846606	20	21706											
MYH2	4620	broad.mit.edu	37	chr17	10436665	10436665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcacctggcctgggttCgggtaatcagctgggccagc	5	9	14	13	1	2	0	1	0	1	0	3	0	2	0	3	4	3	4	3	4	1	2			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:10436665C>T	ENST00000245503.5	-	21	2762	c.2378G>A	c.(2377-2379)cGa>cAa	p.R793Q	MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R793Q|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	793	IQ.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGCCTGGGTTCGGGTAATCAG	0.473													T	10436665	C	T	10436665	3	4	324	1	0	0	0	0	1	0	0	0	10111	884	31	1	3527	1	MYH2	17	10436665	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08	88061	10436665	70758545	21	21707											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-																															gcatccacctgagccccgaaCagcagcagcagcagctgcag																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													-	17394707	CAG	-	17394705	7	5	324	1	0	1	0	1	0	0	0	0	9529	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-DB-A64O-01A-11D-A29Q-08	6958040	17394705	63800505	22	21708											
NF1	4763	broad.mit.edu	37	chr17	29552216	29552216	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccatggatcatgaagaatTactacgtactcctggagcct	11	11	9	10	1	1	2	1	1	0	1	3	4	3	4	3	2	4	1	3	2	5	3			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29552216T>A	ENST00000358273.4	+	17	2332	c.1949T>A	c.(1948-1950)tTa>tAa	p.L650*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L650*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	650					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATGAAGAATTACTACGTACT	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29552216	T	A	29552216	4	1	324	1	0	0	0	0	0	1	0	0	10432	1764	61	5	2076	5	NF1	17	29552216	Nonsense_Mutation	SNP	T	TCGA-DB-A64O-01A-11D-A29Q-08	12157511	29552216	51642994	23	21709											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															agctcgagttctggttactcTgtttgattctcggcatttac																										TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29562660	TGTT	-	29562657	7	5	324	1	0	1	0	1	0	0	0	0	10432	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-DB-A64O-01A-11D-A29Q-08	10441	29562657	51632553	24	21710											
ATP9B	374868	broad.mit.edu	37	chr18	77134067	77134067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcagcttaggctgctaCgtgtcctcactcgcttttct	4	16	7	14	2	3	0	2	0	1	0	6	0	5	0	2	1	3	4	2	1	2	5			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chr18:77134067C>T	ENST00000426216.2	+	28	3257	c.3240C>T	c.(3238-3240)taC>taT	p.Y1080Y	ATP9B_ENST00000307671.7_Silent_p.Y1080Y|ATP9B_ENST00000543761.1_Silent_p.Y401Y	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	1080					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TAGGCTGCTACGTGTCCTCAC	0.478													T	77134067	C	T	77134067	2	4	324	1	0	0	0	0	0	0	0	1	1204	547	19	1		1	ATP9B	18	77134067	Silent	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		77134067	943181	25	21711											
SLC9A7	84679	broad.mit.edu	37	chrX	46510652	46510652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccaggaaatgtaacacctCaaagagctgcacagagaagg	16	5	11	9	0	1	2	1	0	0	2	1	4	1	3	2	2	4	3	2	2	4	1			TCGA-DB-A64O-01A-11D-A29Q-08	TCGA-DB-A64O-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	87995eb9-f8be-46af-af12-a5a7276bca3e	75d5cdcb-5e63-4663-a010-007bd579e55d	g.chrX:46510652C>T	ENST00000328306.4	-	10	1265	c.1240G>A	c.(1240-1242)Gag>Aag	p.E414K		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	414					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						TGTAACACCTCAAAGAGCTGC	0.498													T	46510652	C	T	46510652	3	4	324	1	0	0	0	0	1	0	0	0	14813	835	29	2	969	2	SLC9A7	23	46510652	Missense_Mutation	SNP	C	TCGA-DB-A64O-01A-11D-A29Q-08		46510652	108759908	26	21712											
NR5A2	2494	broad.mit.edu	37	chr1	200017321	200017321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagggccgaccgaatgcGtggaggaaggaataagtttg	12	8	16	5	3	0	0	0	0	0	0	0	5	0	3	2	4	1	2	2	4	5	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:200017321G>A	ENST00000367362.3	+	5	731	c.485G>A	c.(484-486)cGt>cAt	p.R162H	NR5A2_ENST00000544748.1_Missense_Mutation_p.R90H|NR5A2_ENST00000236914.3_Missense_Mutation_p.R116H	NM_001276464.1|NM_205860.1	NP_001263393.1|NP_995582.1	O00482	NR5A2_HUMAN	nuclear receptor subfamily 5, group A, member 2	162					embryo development|positive regulation of viral genome replication|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	lipid binding|protein binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31	Prostate(682;0.19)					GACCGAATGCGTGGAGGAAGG	0.478													A	200017321	G	A	200017321	3	1	325	1	0	0	0	0	1	0	0	0	10712	1145	40	1	503	1	NR5A2	1	200017321	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		200017321	49233300	1	21713											
KDM5B	10765	broad.mit.edu	37	chr1	202719900	202719900	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcacactgattagttcGgtaaacctaaagagacagaa	16	7	8	10	1	0	3	0	1	0	2	1	4	0	3	2	1	2	3	2	1	6	4			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:202719900G>A	ENST00000367265.3	-	13	2872	c.1708C>T	c.(1708-1710)Cga>Tga	p.R570*	KDM5B_ENST00000367264.2_Nonsense_Mutation_p.R606*	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	570	JmjC.				negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TGATTAGTTCGGTAAACCTAA	0.358													A	202719900	G	A	202719900	4	1	325	1	0	0	0	0	0	1	0	0	8192	1124	39	1	2986	1	KDM5B	1	202719900	Nonsense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	2702579	202719900	46530721	2	21714											
OR2G6	391211	broad.mit.edu	37	chr1	248685210	248685210	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggttaccatgaataagaAagacaaaaccatgagctacg	17	7	9	8	1	0	4	0	2	0	2	0	4	0	4	2	1	4	3	2	1	7	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr1:248685210A>T	ENST00000343414.4	+	1	295	c.263A>T	c.(262-264)aAa>aTa	p.K88I		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATGAATAAGAAAGACAAAACC	0.517													T	248685210	A	T	248685210	3	4	325	1	0	0	0	0	1	0	0	0	11076	14	1	5	265	5	OR2G6	1	248685210	Missense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08	45965310	248685210	565411	3	21715											
STON1	11037	broad.mit.edu	37	chr2	48809142	48809142	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacctggaatgctttttaaCcttgaatgaccttgagttgc	10	14	9	8	0	0	3	0	3	0	0	0	5	0	4	3	1	4	2	3	1	4	6			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:48809142C>A	ENST00000309835.3	+	1	1380	c.1370C>A	c.(1369-1371)aCc>aAc	p.T457N	STON1_ENST00000404752.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.T457N|STON1_ENST00000406226.1_Missense_Mutation_p.T457N|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.T457N					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGCTTTTTAACCTTGAATGAC	0.373													A	48809142	C	A	48809142	3	1	325	1	0	0	0	0	1	0	0	0	15412	507	18	4	1372	4	STON1	2	48809142	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		48809142	194390231	4	21716											
PLEK	5341	broad.mit.edu	37	chr2	68607922	68607922	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcagccttcctggaggagaGagatgcctgggttcgggata	8	8	17	8	1	0	2	0	0	0	2	2	6	1	4	3	5	2	2	3	5	1	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:68607922G>C	ENST00000234313.7	+	3	445	c.266G>C	c.(265-267)aGa>aCa	p.R89T		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	89	PH 1.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		CTGGAGGAGAGAGATGCCTGG	0.468													C	68607922	G	C	68607922	3	2	325	1	0	0	0	0	1	0	0	0	12130	942	33	4	276	4	PLEK	2	68607922	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	19798780	68607922	174591451	5	21717											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797917	131797917	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggaacatcgaggacatCtaccgctgccagaaggcctt	10	8	11	12	3	1	1	0	0	1	1	3	4	1	3	3	3	3	1	3	3	3	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:131797917C>A	ENST00000392953.3	+	8	1527	c.1008C>A	c.(1006-1008)atC>atA	p.I336I	ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Silent_p.I265I|ARHGEF4_ENST00000525839.1_Silent_p.I336I|ARHGEF4_ENST00000326016.5_Silent_p.I336I	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	336	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TCGAGGACATCTACCGCTGCC	0.642													A	131797917	C	A	131797917	2	1	325	1	0	0	0	0	0	0	0	1	911	903	32	4		4	ARHGEF4	2	131797917	Silent	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	63189995	131797917	111401456	6	21718											
NEB	4703	broad.mit.edu	37	chr2	152497171	152497171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttacgatagccttcttTgtacttgaactaaaagaaga	13	13	7	8	1	1	3	0	1	1	2	1	4	1	3	1	0	5	2	1	0	7	7			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:152497171T>C	ENST00000397345.3	-	61	8585	c.8383A>G	c.(8383-8385)Aaa>Gaa	p.K2795E	NEB_ENST00000409198.1_Missense_Mutation_p.K2795E|NEB_ENST00000172853.10_Missense_Mutation_p.K2795E|NEB_ENST00000604864.1_Missense_Mutation_p.K2795E|NEB_ENST00000427231.2_Missense_Mutation_p.K2795E|NEB_ENST00000603639.1_Missense_Mutation_p.K2795E	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	2795					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCCTTCTTTGTACTTGAAC	0.403													C	152497171	T	C	152497171	3	2	325	1	0	0	0	0	1	0	0	0	10378	1821	63	3	17791	3	NEB	2	152497171	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08	20699254	152497171	90702202	7	21719											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	325	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	56615941	209113112	34086261	8	21720											
IRS1	3667	broad.mit.edu	37	chr2	227662776	227662776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccccgtcacggcagaacGgcccacctcgatgaagaaga	11	3	13	14	4	1	4	1	1	0	3	2	5	1	4	4	3	1	1	4	3	3	0			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr2:227662776G>A	ENST00000305123.5	-	1	1699	c.679C>T	c.(679-681)Cgt>Tgt	p.R227C		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		ACGGCAGAACGGCCCACCTCG	0.617											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662776	G	A	227662776	3	1	325	1	0	0	0	0	1	0	0	0	7898	1116	39	1	3053	1	IRS1	2	227662776	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	18549664	227662776	15536597	9	21721											
FBXW12	285231	broad.mit.edu	37	chr3	48420003	48420003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcctatcttacaaaggatgGcccattcctgatggtaagtg	11	11	10	9	0	1	1	0	1	1	0	2	2	2	2	3	3	2	1	3	3	4	4			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:48420003G>A	ENST00000296438.5	+	6	788	c.602G>A	c.(601-603)gGc>gAc	p.G201D	FBXW12_ENST00000415155.1_Intron|FBXW12_ENST00000445170.1_Missense_Mutation_p.G182D|FBXW12_ENST00000436231.1_Missense_Mutation_p.G44D	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	201										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACAAAGGATGGCCCATTCCTG	0.483													A	48420003	G	A	48420003	3	1	325	1	0	0	0	0	1	0	0	0	5814	1203	42	2	657	2	FBXW12	3	48420003	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		48420003	149602427	10	21722											
TLR9	54106	broad.mit.edu	37	chr3	52257400	52257400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcactcaggtccagcactCggaggtttcccagcccacgg	7	8	10	16	2	2	0	2	0	1	0	6	1	4	1	3	4	2	2	3	4	0	1	rs141692865	byFrequency	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr3:52257400C>T	ENST00000597542.1	-	9	1961	c.1004G>A	c.(1003-1005)cGa>cAa	p.R335Q	TLR9_ENST00000494383.1_Silent_p.P464P|TLR9_ENST00000360658.2_Missense_Mutation_p.R311Q			Q9NR96	TLR9_HUMAN	toll-like receptor 9	311					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GTCCAGCACTCGGAGGTTTCC	0.532													T	52257400	C	T	52257400	3	4	325	1	0	0	0	0	1	0	0	0	16058	884	31	1	2170	1	TLR9	3	52257400	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	3837397	52257400	145765030	11	21723											
CXCL13	10563	broad.mit.edu	37	chr4	78528958	78528958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaattcaaatcttgcccCgtgggaatggttgtccaaga	11	11	10	9	2	2	1	1	0	1	1	4	3	3	2	3	2	1	1	3	2	4	3	rs150188610	by1000genomes	TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:78528958C>T	ENST00000286758.4	+	3	244	c.166C>T	c.(166-168)Cgt>Tgt	p.R56C		NM_006419.2	NP_006410.1	O43927	CXL13_HUMAN	chemokine (C-X-C motif) ligand 13	56					activation of Rap GTPase activity|B cell chemotaxis|cell-cell signaling|chronic inflammatory response|defense response to bacterium|elevation of cytosolic calcium ion concentration|endothelial cell chemotaxis to fibroblast growth factor|germinal center formation|lymphocyte chemotaxis across high endothelial venule|negative regulation of apoptosis|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of integrin activation|positive regulation of T cell chemotaxis|regulation of angiogenesis|regulation of humoral immune response	extracellular space|soluble fraction	CCR10 chemokine receptor binding|chemokine activity|CXCR3 chemokine receptor binding|CXCR5 chemokine receptor binding|fibroblast growth factor 2 binding|heparin binding|protein heterodimerization activity|receptor agonist activity			large_intestine(1)|ovary(1)|skin(1)|urinary_tract(1)	4						AATCTTGCCCCGTGGGAATGG	0.383													T	78528958	C	T	78528958	3	4	325	1	0	0	0	0	1	0	0	0	4114	652	23	1	172	1	CXCL13	4	78528958	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		78528958	112625318	12	21724											
KIAA1109	84162	broad.mit.edu	37	chr4	123166209	123166209	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttcattgtgctagtaccCgacatccagctgcaattgta	9	13	9	10	1	1	0	1	0	0	0	2	1	2	0	2	1	4	6	2	1	4	6			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr4:123166209C>T	ENST00000264501.4	+	32	5324	c.4951C>T	c.(4951-4953)Cga>Tga	p.R1651*	KIAA1109_ENST00000388738.3_Nonsense_Mutation_p.R1651*|KIAA1109_ENST00000455637.1_Nonsense_Mutation_p.R1651*			Q2LD37	K1109_HUMAN	KIAA1109	1651					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGCTAGTACCCGACATCCAGC	0.343													T	123166209	C	T	123166209	4	4	325	1	0	0	0	0	0	1	0	0	8266	644	23	1	5069	1	KIAA1109	4	123166209	Nonsense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	44637251	123166209	67988067	13	21725											
WNT8A	7478	broad.mit.edu	37	chr5	137424684	137424685	+	Frame_Shift_Del	DEL	TT	TT	-																															gggaaaggatctccaaactcTttgtggacagtttggagaag																										TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:137424684_137424685delTT	ENST00000506684.1	+	4	726_727	c.490_491delTT	c.(490-492)tttfs	p.F164fs	WNT8A_ENST00000398754.1_Frame_Shift_Del_p.F146fs			Q9H1J5	WNT8A_HUMAN	wingless-type MMTV integration site family, member 8A	146					brain segmentation|canonical Wnt receptor signaling pathway involved in neural crest cell differentiation|cell migration involved in gastrulation|dorsal/ventral pattern formation|ectoderm development|endoderm development|eye development|hindbrain development|mesodermal cell fate commitment|negative regulation of Wnt receptor signaling pathway|neural crest cell fate commitment|neural plate pattern specification|notochord development|palate development|polarity specification of anterior/posterior axis|polarity specification of proximal/distal axis|positive regulation of fibroblast growth factor receptor signaling pathway|regulation of transcription involved in anterior/posterior axis specification|response to retinoic acid|somitogenesis|spinal cord anterior/posterior patterning|tail morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CTCCAAACTCTTTGTGGACAGT	0.51													-	137424685	TT	-	137424684	7	5	325	1	0	1	0	1	0	0	0	0	17498	1609	56	0	454	0	WNT8A	5	137424684	Frame_Shift_Del	DEL	TT	TCGA-DB-A64P-01A-11D-A29Q-08		137424684	43490576	14	21726											
PCDHA5	56143	broad.mit.edu	37	chr5	140201485	140201485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggaagccaaacacggaaCcttcgttggccgcatcgcgc	10	5	13	13	5	0	0	0	0	0	0	2	3	0	3	3	4	3	2	3	4	3	2			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:140201485C>A	ENST00000529859.1	+	1	125	c.125C>A	c.(124-126)aCc>aAc	p.T42N	PCDHA5_ENST00000378126.3_Missense_Mutation_p.T42N|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.T42N|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACACGGAACCTTCGTTGGC	0.677													A	140201485	C	A	140201485	3	1	325	1	0	0	0	0	1	0	0	0	11603	507	18	4	127	4	PCDHA5	5	140201485	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	2776801	140201485	40713775	15	21727											
FAT2	2196	broad.mit.edu	37	chr5	150946296	150946296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctgctaggcgggccaaggGggtgttgatagggacactct	7	8	18	8	1	1	1	0	1	1	0	1	2	1	2	1	6	1	3	1	6	3	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr5:150946296G>A	ENST00000261800.5	-	1	2209	c.2197C>T	c.(2197-2199)Ccc>Tcc	p.P733S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	733	Cadherin 6.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CGGGCCAAGGGGGTGTTGATA	0.483													A	150946296	G	A	150946296	3	1	325	1	0	0	0	0	1	0	0	0	5739	1232	43	2	10944	2	FAT2	5	150946296	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	10744811	150946296	29968964	16	21728											
STEAP1	26872	broad.mit.edu	37	chr7	89790617	89790617	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatacaagttgctaaacTgggcatatcaacaggtaaga	17	8	9	7	0	1	2	1	0	0	2	1	2	1	2	0	2	4	4	0	2	7	5			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:89790617T>A	ENST00000297205.2	+	3	783	c.583T>A	c.(583-585)Tgg>Agg	p.W195R	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	195	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					GTTGCTAAACTGGGCATATCA	0.363													A	89790617	T	A	89790617	3	1	325	1	0	0	0	0	1	0	0	0	15373	1580	55	5	589	5	STEAP1	7	89790617	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		89790617	69348046	17	21729											
KLF14	136259	broad.mit.edu	37	chr7	130418098	130418098	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcagagggggcaggagaAgcgcttctcgcccgtgtgcg	6	5	20	10	4	1	2	0	0	1	2	2	3	1	2	1	5	2	3	1	5	1	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr7:130418098A>C	ENST00000310992.4	-	1	790	c.763T>G	c.(763-765)Ttc>Gtc	p.F255V		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GGGCAGGAGAAGCGCTTCTCG	0.622													C	130418098	A	C	130418098	3	2	325	1	0	0	0	0	1	0	0	0	8400	72	3	5	212	5	KLF14	7	130418098	Missense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08	40627481	130418098	28720565	18	21730											
ZNF33B	7582	broad.mit.edu	37	chr10	43089024	43089024	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtgtgagttctctggtgTactgtaaggtgtgaattcat	7	16	12	6	0	2	2	1	2	1	0	3	2	2	2	1	2	1	3	1	2	3	4	rs140001885		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr10:43089024T>C	ENST00000359467.3	-	5	1488	c.1374A>G	c.(1372-1374)gtA>gtG	p.V458V	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	458						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						TTCTCTGGTGTACTGTAAGGT	0.403													C	43089024	T	C	43089024	2	2	325	1	0	0	0	0	0	0	0	1	17956	1625	57	3		3	ZNF33B	10	43089024	Silent	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		43089024	92445723	19	21731											
SYT7	9066	broad.mit.edu	37	chr11	61295549	61295549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccttcatgatcttcaCggtgagcgtggactcctgga	6	11	13	11	2	3	2	2	2	1	0	4	4	4	4	2	4	1	0	2	4	0	2	rs382505		TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr11:61295549C>T	ENST00000263846.4	-	5	787	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	SYT7_ENST00000540677.1_Missense_Mutation_p.V229M|SYT7_ENST00000539008.1_Missense_Mutation_p.V437M|SYT7_ENST00000540831.1_5'UTR|SYT7_ENST00000542836.1_Missense_Mutation_p.V198M|SYT7_ENST00000535826.1_Missense_Mutation_p.V273M|SYT7_ENST00000542670.1_Missense_Mutation_p.V362M	NM_004200.3	NP_004191.2	O43581	SYT7_HUMAN	synaptotagmin VII	154	C2 1.			V -> L (in Ref. 1; AAB92667).		cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			kidney(2)|large_intestine(3)|lung(4)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGATCTTCACGGTGAGCGTG	0.612													T	61295549	C	T	61295549	3	4	325	1	0	0	0	0	1	0	0	0	15576	536	19	1	771	1	SYT7	11	61295549	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		61295549	73710967	20	21732											
RAD52	5893	broad.mit.edu	37	chr12	1023182	1023182	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctggttgttcaaggctAatgtgtcagaggtctgggct	7	13	13	8	0	4	1	2	0	2	1	4	1	4	1	1	4	0	4	1	4	2	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:1023182A>T	ENST00000358495.3	-	11	1211	c.1073T>A	c.(1072-1074)tTa>tAa	p.L358*	RAD52_ENST00000535376.1_5'UTR|RAD52_ENST00000430095.2_Nonsense_Mutation_p.L358*|RAD52_ENST00000539046.1_Nonsense_Mutation_p.L281*	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	358					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GTTCAAGGCTAATGTGTCAGA	0.522								Homologous recombination					T	1023182	A	T	1023182	4	4	325	1	0	0	0	0	0	1	0	0	13079	372	13	5	191	5	RAD52	12	1023182	Nonsense_Mutation	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08		1023182	132828713	21	21733											
TMEM132B	114795	broad.mit.edu	37	chr12	125900205	125900205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgcatgggccatcGcccggacacgcagagcaggt	8	5	12	16	3	1	1	1	0	0	1	2	2	1	2	4	3	2	3	4	3	0	0			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr12:125900205G>A	ENST00000299308.3	+	3	1081	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	358						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ATGGGCCATCGCCCGGACACG	0.592													A	125900205	G	A	125900205	3	1	325	1	0	0	0	0	1	0	0	0	16146	1087	38	1	1083	1	TMEM132B	12	125900205	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	124877023	125900205	7951690	22	21734											
PARP16	54956	broad.mit.edu	37	chr15	65551839	65551839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatacagggatatcatgacgGtaaaccaatggctggaaaac	16	7	11	7	1	1	1	1	1	0	0	1	4	1	3	1	4	3	2	1	4	7	3			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr15:65551839G>A	ENST00000261888.6	-	6	1323	c.878C>T	c.(877-879)aCc>aTc	p.T293I	PARP16_ENST00000444347.2_Missense_Mutation_p.T177I	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	292						integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TATCATGACGGTAAACCAATG	0.428													A	65551839	G	A	65551839	3	1	325	1	0	0	0	0	1	0	0	0	11536	1261	44	2	97	2	PARP16	15	65551839	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		65551839	36979553	23	21735											
CASKIN1	57524	broad.mit.edu	37	chr16	2246363	2246364	+	Frame_Shift_Del	DEL	TG	TG	-																															ccttcccgggccgcggcctcTgcagcagcctctgcgcggtc																										TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:2246363_2246364delTG	ENST00000343516.6	-	1	162_163	c.70_71delCA	c.(70-72)cagfs	p.Q24fs		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	24					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						CCGCGGCCTCTGCAGCAGCCTC	0.812													-	2246364	TG	-	2246363	7	5	325	1	0	1	0	1	0	0	0	0	2692	1580	55	0	4304	0	CASKIN1	16	2246363	Frame_Shift_Del	DEL	TG	TCGA-DB-A64P-01A-11D-A29Q-08		2246363	88108390	24	21736											
ITGAX	3687	broad.mit.edu	37	chr16	31374553	31374553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctggggtcgctttggggCggctctgacagtgctggggg	2	9	19	11	2	1	1	0	1	1	0	2	1	1	1	2	7	1	3	2	7	0	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr16:31374553C>T	ENST00000268296.4	+	14	1689	c.1568C>T	c.(1567-1569)gCg>gTg	p.A523V	ITGAX_ENST00000562522.1_Missense_Mutation_p.A523V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	523					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CGCTTTGGGGCGGCTCTGACA	0.617													T	31374553	C	T	31374553	3	4	325	1	0	0	0	0	1	0	0	0	7947	768	27	1	1622	1	ITGAX	16	31374553	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	29128190	31374553	58980200	25	21737											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													A	38240101	G	A	38240101	3	1	325	1	0	0	0	0	1	0	0	0	15973	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08		38240101	42955109	26	21738											
JUP	3728	broad.mit.edu	37	chr17	39914694	39914694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccggaagatctccatgCggttcatggggtcccgggcg	6	8	16	11	4	2	2	1	1	1	1	4	3	3	3	3	5	2	1	3	5	1	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:39914694C>T	ENST00000393931.3	-	10	1848	c.1730G>A	c.(1729-1731)cGc>cAc	p.R577H	JUP_ENST00000540235.1_Intron|JUP_ENST00000310706.5_Missense_Mutation_p.R577H|JUP_ENST00000393930.1_Missense_Mutation_p.R577H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	577					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		GATCTCCATGCGGTTCATGGG	0.622													T	39914694	C	T	39914694	3	4	325	1	0	0	0	0	1	0	0	0	8030	768	27	1	527	1	JUP	17	39914694	Missense_Mutation	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08	1674593	39914694	41280516	27	21739											
LRRC37A2	474170	broad.mit.edu	37	chr17	44630803	44630812	+	Frame_Shift_Del	DEL	AAGGATTCTC	AAGGATTCTC	-																															gtcattacaagaagatgaagAaggattctcaaggtaaatat																										TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr17:44630803_44630812delAAGGATTCTC	ENST00000576629.1	+	12	5342_5351	c.4847_4856delAAGGATTCTC	c.(4846-4857)gaaggattctcafs	p.EGFS1616fs	ARL17A_ENST00000337845.7_Intron|ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000570550.1_Intron|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000445552.2_Intron|LRRC37A2_ENST00000333412.3_Frame_Shift_Del_p.EGFS1616fs			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1616						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAAGATGAAGAAGGATTCTCAAGGTAAATA	0.395													-	44630812	AAGGATTCTC	-	44630803	7	5	325	1	0	1	0	1	0	0	0	0	9062	246	9	0	4889	0	LRRC37A2	17	44630803	Frame_Shift_Del	DEL	AAGGATTCTC	TCGA-DB-A64P-01A-11D-A29Q-08	4716109	44630803	36564407	28	21740											
MUC16	94025	broad.mit.edu	37	chr19	9082770	9082770	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgacctgtgctgaagagAgttgtgagttttgatgcaag	9	13	14	5	0	0	5	0	4	0	1	0	6	0	5	1	0	2	5	1	0	2	4			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9082770A>G	ENST00000397910.4	-	1	9248	c.9045T>C	c.(9043-9045)acT>acC	p.T3015T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3016	Ser-rich.|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						TGCTGAAGAGAGTTGTGAGTT	0.493													G	9082770	A	G	9082770	2	3	325	1	0	0	0	0	0	0	0	1	10049	291	11	3		3	MUC16	19	9082770	Silent	SNP	A	TCGA-DB-A64P-01A-11D-A29Q-08		9082770	50046213	29	21741											
ZNF266	10781	broad.mit.edu	37	chr19	9526349	9526349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatttgaatcccactggagGttggctcccccaaaacatcc	10	9	7	15	0	0	1	0	1	0	0	3	2	3	2	5	3	1	2	5	3	3	2			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:9526349G>A	ENST00000592904.1	-	4	2261	c.185C>T	c.(184-186)aCc>aTc	p.T62I	ZNF266_ENST00000588221.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T62I|ZNF266_ENST00000590306.1_Missense_Mutation_p.T62I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T62I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T62I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T62I			Q14584	ZN266_HUMAN	zinc finger protein 266	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CCCACTGGAGGTTGGCTCCCC	0.388													A	9526349	G	A	9526349	3	1	325	1	0	0	0	0	1	0	0	0	17906	1261	44	2	1472	2	ZNF266	19	9526349	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	443579	9526349	49602634	30	21742											
CIC	23152	broad.mit.edu	37	chr19	42791719	42791719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaccacatccggcGgcccatgaatgccttcatga	11	6	12	12	2	1	3	1	2	0	1	2	5	2	4	4	4	1	0	4	4	2	1			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr19:42791719G>A	ENST00000572681.2	+	6	3400	c.3332G>A	c.(3331-3333)cGg>cAg	p.R1111Q	CIC_ENST00000575354.2_Missense_Mutation_p.R202Q|CIC_ENST00000160740.3_Missense_Mutation_p.R202Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACATCCGGCGGCCCATGAAT	0.627			"Mis, F, S"		oligodendroglioma								A	42791719	G	A	42791719	3	1	325	1	0	0	0	0	1	0	0	0	3454	1116	39	1	623	1	CIC	19	42791719	Missense_Mutation	SNP	G	TCGA-DB-A64P-01A-11D-A29Q-08	33265370	42791719	16337264	31	21743											
TPTE	7179	broad.mit.edu	37	chr21	10941933	10941933	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatttctatagaaagacTgccttccagaagatggaaat	14	12	9	6	0	1	4	0	0	1	4	2	6	2	6	2	2	1	0	2	2	5	5			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chr21:10941933T>C	ENST00000298232.7	-	13	1083	c.716A>G	c.(715-717)cAg>cGg	p.Q239R	TPTE_ENST00000361285.4_Missense_Mutation_p.Q257R|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.Q219R	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	257	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATAGAAAGACTGCCTTCCAGA	0.308													C	10941933	T	C	10941933	3	2	325	1	0	0	0	0	1	0	0	0	16531	1580	55	3	929	3	TPTE	21	10941933	Missense_Mutation	SNP	T	TCGA-DB-A64P-01A-11D-A29Q-08		10941933	37187962	32	21744											
ARSE	415	broad.mit.edu	37	chrX	2853194	2853194	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggctccctctggctggaaCacaggcgtcacaaagtggac	9	6	12	14	2	2	0	1	0	1	0	3	2	3	2	2	5	1	2	2	5	2	0			TCGA-DB-A64P-01A-11D-A29Q-08	TCGA-DB-A64P-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5864a37b-dfec-475c-95f4-2426c8e2772c	0bb265d4-0ce6-4374-890c-3f9e096dab5e	g.chrX:2853194C>A	ENST00000545496.1	-	12	1815	c.1524G>T	c.(1522-1524)gtG>gtT	p.V508V	ARSE_ENST00000540563.1_Silent_p.V438V|ARSE_ENST00000381134.3_Silent_p.V483V	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	483					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGCTGGAACACAGGCGTCA	0.507													A	2853194	C	A	2853194	2	1	325	1	0	0	0	0	0	0	0	1	995	465	17	4		4	ARSE	23	2853194	Silent	SNP	C	TCGA-DB-A64P-01A-11D-A29Q-08		2853194	152417366	33	21745											
FUBP1	8880	broad.mit.edu	37	chr1	78429937	78429937	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagattattatatgtactcAcctggcttaaactgaatgcg	13	13	7	8	1	1	2	1	1	0	1	1	2	1	2	1	1	3	2	1	1	8	5			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:78429937A>C	ENST00000370767.1	-	11	1028		c.e11+1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATATGTACTCACCTGGCTTAA	0.333			"F, N"		oligodendroglioma								C	78429937	A	C	78429937	5	2	326	1	0	0	0	0	0	0	1	0	6144	173	6	5	1032	5	FUBP1	1	78429937	Splice_Site	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08		78429937	170820684	1	21746											
DCAF6	55827	broad.mit.edu	37	chr1	167956741	167956741	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcttcagattatgacTgtacccaatgacccttacac	11	14	4	12	0	3	3	2	2	1	1	3	3	3	3	2	0	2	1	2	0	4	5			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:167956741T>C	ENST00000367840.3	+	5	541	c.447T>C	c.(445-447)acT>acC	p.T149T	DCAF6_ENST00000432587.2_Silent_p.T118T|DCAF6_ENST00000470919.1_3'UTR|DCAF6_ENST00000367843.3_Silent_p.T149T|DCAF6_ENST00000312263.6_Silent_p.T149T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	149					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATTATGACTGTACCCAATG	0.358													C	167956741	T	C	167956741	2	2	326	1	0	0	0	0	0	0	0	1	4308	1567	55	3		3	DCAF6	1	167956741	Silent	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08	89526804	167956741	81293880	2	21747											
TLR5	7100	broad.mit.edu	37	chr1	223285526	223285526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacttctggccaggccaGcaaatgtgttctggtcagga	9	10	12	10	0	3	1	1	1	2	0	3	2	3	2	2	4	2	2	2	4	2	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr1:223285526G>A	ENST00000540964.1	-	4	1309	c.848C>T	c.(847-849)gCt>gTt	p.A283V	TLR5_ENST00000342210.6_Missense_Mutation_p.A283V			O60602	TLR5_HUMAN	toll-like receptor 5	283					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		GGCCAGGCCAGCAAATGTGTT	0.483													A	223285526	G	A	223285526	3	1	326	1	0	0	0	0	1	0	0	0	16054	971	34	2	1732	2	TLR5	1	223285526	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	55328785	223285526	25965095	3	21748											
KIDINS220	57498	broad.mit.edu	37	chr2	8872066	8872066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatttcaatactggaaTcctgggaattgagactcgaa	14	12	9	6	1	1	2	1	2	0	1	3	6	2	4	1	2	1	0	1	2	6	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:8872066T>C	ENST00000256707.3	-	30	4281	c.4100A>G	c.(4099-4101)gAt>gGt	p.D1367G	KIDINS220_ENST00000427284.1_Missense_Mutation_p.D1348G|KIDINS220_ENST00000418530.1_Missense_Mutation_p.D1268G|KIDINS220_ENST00000473731.1_Missense_Mutation_p.D1348G	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	1367					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					AATACTGGAATCCTGGGAATT	0.388													C	8872066	T	C	8872066	3	2	326	1	0	0	0	0	1	0	0	0	8329	1435	50	3	1219	3	KIDINS220	2	8872066	Missense_Mutation	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		8872066	234327307	4	21749											
COL3A1	1281	broad.mit.edu	37	chr2	189855755	189855755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatggacgaaatggagaaaAgggtgaaacaggtgctcctg	14	6	15	6	2	0	2	0	1	0	1	1	6	1	3	1	4	2	1	1	4	4	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr2:189855755A>G	ENST00000304636.3	+	11	994	c.824A>G	c.(823-825)aAg>aGg	p.K275R	COL3A1_ENST00000317840.5_Missense_Mutation_p.K275R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	275	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AATGGAGAAAAGGGTGAAACA	0.284													G	189855755	A	G	189855755	3	3	326	1	0	0	0	0	1	0	0	0	3719	72	3	3	866	3	COL3A1	2	189855755	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	180983689	189855755	53343618	5	21750											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	326	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	19257357	209113112	34086261	6	21751											
POLQ	10721	broad.mit.edu	37	chr3	121186388	121186388	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaggcacaaaggcatgTcgcatgctaattgaaaatgg	15	7	13	6	1	0	1	0	1	0	0	1	2	0	2	0	4	1	4	0	4	5	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:121186388T>A	ENST00000264233.5	-	24	7073	c.6945A>T	c.(6943-6945)cgA>cgT	p.R2315R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2315					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAAGGCATGTCGCATGCTAA	0.443								DNA polymerases (catalytic subunits)					A	121186388	T	A	121186388	2	1	326	1	0	0	0	0	0	0	0	1	12285	1654	58	5		5	POLQ	3	121186388	Silent	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		121186388	76836042	7	21752											
XRN1	54464	broad.mit.edu	37	chr3	142136035	142136035	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatccactgtattgcCtgaacataacatgcagcttg	13	11	7	10	0	0	1	0	1	0	0	1	1	1	1	2	0	6	4	2	0	5	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:142136035C>T	ENST00000264951.4	-	13	1500	c.1383G>A	c.(1381-1383)caG>caA	p.Q461Q	XRN1_ENST00000392981.2_Silent_p.Q461Q	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	461					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						ACTGTATTGCCTGAACATAAC	0.348													T	142136035	C	T	142136035	2	4	326	1	0	0	0	0	0	0	0	1	17561	680	24	2		2	XRN1	3	142136035	Silent	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	20949647	142136035	55886395	8	21753											
PIK3CA	5290	broad.mit.edu	37	chr3	178936091	178936091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctctctctgaaatcactGagcaggagaaagattttcta	13	12	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs104886003		TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr3:178936091G>A	ENST00000263967.3	+	10	1790	c.1633G>A	c.(1633-1635)Gag>Aag	p.E545K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545K(881)|p.E545Q(18)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAAATCACTGAGCAGGAGAA	0.353	E545K(BC3C_URINARY_TRACT)|E545K(BFTC909_KIDNEY)|E545K(DLD1_LARGE_INTESTINE)|E545K(ESS1_ENDOMETRIUM)|E545K(HCC202_BREAST)|E545K(HCT15_LARGE_INTESTINE)|E545K(HSC4_UPPER_AERODIGESTIVE_TRACT)|E545K(HT1197_URINARY_TRACT)|E545K(HUH28_BILIARY_TRACT)|E545K(KYSE510_OESOPHAGUS)|E545K(L363_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|E545K(MCF7_BREAST)|E545K(MDAMB361_BREAST)|E545K(MKN1_STOMACH)|E545K(NCIH460_LUNG)|E545K(NCIH508_LARGE_INTESTINE)|E545K(NCIH596_LUNG)|E545K(RERFLCSQ1_LUNG)|E545K(TCCSUP_URINARY_TRACT)|E545K(TE5_OESOPHAGUS)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936091	G	A	178936091	3	1	326	1	0	0	0	0	1	0	0	0	11990	1291	45	2	1667	2	PIK3CA	3	178936091	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	36800056	178936091	19086339	9	21754											
HSPA4L	22824	broad.mit.edu	37	chr4	128739562	128739562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaggaaattgatcatacagGagccaaaacaaaggtttggt	17	8	11	5	0	1	2	1	1	0	1	1	4	1	4	1	4	3	1	1	4	5	3			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr4:128739562G>A	ENST00000296464.4	+	13	2072	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	HSPA4L_ENST00000439123.2_Missense_Mutation_p.G585E|HSPA4L_ENST00000515262.1_3'UTR|HSPA4L_ENST00000505726.1_Missense_Mutation_p.G528E|HSPA4L_ENST00000508776.1_Missense_Mutation_p.G554E	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GATCATACAGGAGCCAAAACA	0.313													A	128739562	G	A	128739562	3	1	326	1	0	0	0	0	1	0	0	0	7470	1174	41	2	1711	2	HSPA4L	4	128739562	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		128739562	62414714	10	21755											
TREML2	79865	broad.mit.edu	37	chr6	41165879	41165879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagctggaagcccatcaagGggtacaggatcccagaggtg	11	5	14	11	0	1	1	1	0	0	1	2	3	2	3	3	5	3	2	3	5	3	1			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:41165879G>A	ENST00000483722.1	-	2	529	c.344C>T	c.(343-345)cCc>cTc	p.P115L		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	115	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCCATCAAGGGGTACAGGAT	0.612													A	41165879	G	A	41165879	3	1	326	1	0	0	0	0	1	0	0	0	16574	1232	43	2	637	2	TREML2	6	41165879	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		41165879	129949188	11	21756											
FRS3	10817	broad.mit.edu	37	chr6	41738833	41738833	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccagctgctgggcttGgctttcccacacagggggca	5	8	12	16	0	0	0	0	0	0	0	2	0	2	0	3	4	2	5	3	4	0	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:41738833G>A	ENST00000373018.3	-	7	1254	c.1003C>T	c.(1003-1005)Caa>Taa	p.Q335*	FRS3_ENST00000259748.2_Nonsense_Mutation_p.Q335*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	335					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TGCTGGGCTTGGCTTTCCCAC	0.662													A	41738833	G	A	41738833	4	1	326	1	0	0	0	0	0	1	0	0	6114	1357	47	2	479	2	FRS3	6	41738833	Nonsense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	572954	41738833	129376234	12	21757											
ENPP1	5167	broad.mit.edu	37	chr6	132198210	132198210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaagaatcctgtttataCgccaaagcatcccaaagaag	16	9	6	10	1	1	2	0	0	1	2	3	2	3	2	3	0	2	2	3	0	8	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr6:132198210C>T	ENST00000360971.2	+	18	1822	c.1802C>T	c.(1801-1803)aCg>aTg	p.T601M		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	601					3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	CCTGTTTATACGCCAAAGCAT	0.448													T	132198210	C	T	132198210	3	4	326	1	0	0	0	0	1	0	0	0	5170	536	19	1	1872	1	ENPP1	6	132198210	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	90459377	132198210	38916857	13	21758											
MLLT3	4300	broad.mit.edu	37	chr9	20414126	20414126	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcttctttcagtggttTattttctttgggtttcttag	3	25	7	6	0	5	0	1	0	4	0	6	0	5	0	0	2	0	2	0	2	2	10			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr9:20414126T>C	ENST00000355930.6	-	0	976				MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.K237E|MLLT3_ENST00000380338.4_Missense_Mutation_p.K240E			P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTCAGTGGTTTATTTTCTTTG	0.388			T	MLL	ALL								C	20414126	T	C	20414126	1	2	326	1	0	0	0	0	0	0	0	0	9703	1763	61	3		3	MLLT3	9	20414126	Translation_Start_Site	SNP	T	TCGA-DB-A64Q-01A-11D-A29Q-08		20414126	120799305	14	21759											
GLT6D1	360203	broad.mit.edu	37	chr9	138516117	138516117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaaatctccctgtccaaaCgggatgcaagctgctgaggt	11	9	11	10	1	1	2	0	1	1	1	3	3	2	3	2	2	4	3	2	2	4	1			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr9:138516117C>T	ENST00000371763.1	-	5	910	c.657G>A	c.(655-657)ccG>ccA	p.P219P		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	219			P -> S (in dbSNP:rs17040344).		carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups	p.P219P(1)		endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGTCCAAACGGGATGCAAG	0.493													T	138516117	C	T	138516117	2	4	326	1	0	0	0	0	0	0	0	1	6524	523	19	1		1	GLT6D1	9	138516117	Silent	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	118101991	138516117	2697314	15	21760											
TEAD1	7003	broad.mit.edu	37	chr11	12901386	12901386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccttcccaggggcgccGggggtaagtcatgagctcag	7	6	15	13	3	2	1	2	1	0	0	3	2	3	1	4	4	1	2	4	4	1	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr11:12901386G>A	ENST00000361905.4	+	6	1082	c.417G>A	c.(415-417)ccG>ccA	p.P139P	TEAD1_ENST00000526600.1_Silent_p.P58P|TEAD1_ENST00000527575.1_Silent_p.P154P|TEAD1_ENST00000361985.2_Silent_p.P154P|TEAD1_ENST00000334310.6_Silent_p.P143P|TEAD1_ENST00000527636.1_Silent_p.P154P	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	154					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.P139P(1)		breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGGGCGCCGGGGGTAAGTC	0.597													A	12901386	G	A	12901386	2	1	326	1	0	0	0	0	0	0	0	1	15838	1103	39	1		1	TEAD1	11	12901386	Silent	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		12901386	122105130	16	21761											
EML1	2009	broad.mit.edu	37	chr14	100367314	100367314	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attctgtgacattgaatactCtccacgtcattggaataggt	11	14	8	8	1	3	2	1	2	2	0	4	3	3	3	1	2	1	0	1	2	4	5			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr14:100367314C>G	ENST00000262233.6	+	9	1085	c.946C>G	c.(946-948)Ctc>Gtc	p.L316V	EML1_ENST00000327921.9_Missense_Mutation_p.L304V|EML1_ENST00000334192.4_Missense_Mutation_p.L335V	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	316						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				ATTGAATACTCTCCACGTCAT	0.433													G	100367314	C	G	100367314	3	3	326	1	0	0	0	0	1	0	0	0	5137	913	32	4	1041	4	EML1	14	100367314	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		100367314	6982226	17	21762											
KRTAP9-9	81870	broad.mit.edu	37	chr17	39412064	39412064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccctgctgccgccccGcctgctgtgagaccacctgc	4	6	11	20	2	0	1	0	1	0	1	0	2	0	1	8	0	5	2	8	0	0	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:39412064G>A	ENST00000394008.1	+	1	429	c.427G>A	c.(427-429)Gcc>Acc	p.A143T		NM_030975.2	NP_112237.2	B5MDD6	B5MDD6_HUMAN	keratin associated protein 9-9	143						keratin filament				endometrium(3)|skin(2)|upper_aerodigestive_tract(1)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CTGCCGCCCCGCCTGCTGTGA	0.612													A	39412064	G	A	39412064	3	1	326	1	0	0	0	0	1	0	0	0	8636	1087	38	1	429	1	KRTAP9-9	17	39412064	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08		39412064	41783146	18	21763											
C17orf77	146723	broad.mit.edu	37	chr17	72588190	72588190	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatatgggcatggatggAtgaattggcgctgtcatttt	10	14	13	4	1	1	2	1	2	0	0	1	4	1	4	0	4	0	2	0	4	3	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:72588190A>T	ENST00000392620.1	+	3	367	c.5A>T	c.(4-6)gAt>gTt	p.D2V	CD300LD_ENST00000375352.1_Intron|C17orf77_ENST00000328023.2_Missense_Mutation_p.D2V	NM_152460.2	NP_689673.2	Q96MU5	CQ077_HUMAN	chromosome 17 open reading frame 77	2						extracellular region				breast(2)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	11						GCATGGATGGATGAATTGGCG	0.438													T	72588190	A	T	72588190	3	4	326	1	0	0	0	0	1	0	0	0	1899	333	12	5	7	5	C17orf77	17	72588190	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	33176126	72588190	8607020	19	21764											
LLGL2	3993	broad.mit.edu	37	chr17	73570548	73570548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaggagtcctgaaggaaAtccagagcacactggaggga	13	5	14	9	0	0	2	0	1	0	1	2	6	2	6	2	4	2	2	2	4	2	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr17:73570548A>G	ENST00000392550.3	+	24	3085	c.2968A>G	c.(2968-2970)Atc>Gtc	p.I990V	LLGL2_ENST00000167462.5_Intron|LLGL2_ENST00000577200.1_Missense_Mutation_p.I990V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	990					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCTGAAGGAAATCCAGAGCAC	0.697													G	73570548	A	G	73570548	3	3	326	1	0	0	0	0	1	0	0	0	8895	101	4	3	3093	3	LLGL2	17	73570548	Missense_Mutation	SNP	A	TCGA-DB-A64Q-01A-11D-A29Q-08	982358	73570548	7624662	20	21765											
LRRC30	339291	broad.mit.edu	37	chr18	7231991	7231991	+	Frame_Shift_Del	DEL	G	G	-																															cctctgccggagctggtggaGgggggcctggagatgctctt																										TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr18:7231991delG	ENST00000383467.2	+	1	869	c.855delG	c.(853-855)gagfs	p.E285fs		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	285										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						AGCTGGTGGAGGGGGGCCTGG	0.582													-	7231991	G	-	7231991	7	5	326	1	0	1	0	1	0	0	0	0	9055	991	35	0	857	0	LRRC30	18	7231991	Frame_Shift_Del	DEL	G	TCGA-DB-A64Q-01A-11D-A29Q-08		7231991	70845257	21	21766											
PALM	5064	broad.mit.edu	37	chr19	746735	746735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggaagagaatcaggCggggcccgaggccaccacca	11	2	14	14	2	1	1	1	0	0	1	2	4	2	2	5	5	0	0	5	5	2	0			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr19:746735C>T	ENST00000264560.7	+	8	1147	c.953C>T	c.(952-954)gCg>gTg	p.A318V	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.A362V	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	362					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		GAGAATCAGGCGGGGCCCGAG	0.672													T	746735	C	T	746735	3	4	326	1	0	0	0	0	1	0	0	0	11484	768	27	1	1119	1	PALM	19	746735	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		746735	58382248	22	21767											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								A	42799051	G	A	42799051	3	1	326	1	0	0	0	0	1	0	0	0	3454	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	42052316	42799051	16329932	23	21768											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctccattgtacgatgggCggcagcagccatatccatag	10	9	10	12	2	0	0	0	0	0	0	3	1	3	0	4	2	3	3	4	2	3	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr21:31852407C>T	ENST00000390689.2	-	1	256	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488													T	31852407	C	T	31852407	3	4	326	1	0	0	0	0	1	0	0	0	8586	768	27	1	44	1	KRTAP19-1	21	31852407	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		31852407	16277488	24	21769											
SYNJ1	8867	broad.mit.edu	37	chr21	34053835	34053835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaagagctccagttcCtgcatatatcttactgattg	9	14	6	12	0	2	2	1	1	1	1	4	2	4	2	3	0	3	3	3	0	4	6			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr21:34053835C>T	ENST00000382499.2	-	11	1440	c.1441G>A	c.(1441-1443)Gga>Aga	p.G481R	SYNJ1_ENST00000357345.3_Missense_Mutation_p.G442R|SYNJ1_ENST00000382491.3_Missense_Mutation_p.G442R|SYNJ1_ENST00000433931.2_Missense_Mutation_p.G481R|SYNJ1_ENST00000322229.7_Missense_Mutation_p.G442R	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	442							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCTCCAGTTCCTGCATATATC	0.393													T	34053835	C	T	34053835	3	4	326	1	0	0	0	0	1	0	0	0	15549	690	24	2	3519	2	SYNJ1	21	34053835	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08	2201428	34053835	14076060	25	21770											
DEPDC5	9681	broad.mit.edu	37	chr22	32211066	32211066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctaccaagccgcacactgCccactgaggaagtgaggagc	11	4	11	15	1	0	2	0	2	0	0	0	4	0	4	4	2	4	1	4	2	3	1			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chr22:32211066C>T	ENST00000400246.1	+	21	1676	c.1534C>T	c.(1534-1536)Ccc>Tcc	p.P512S	DEPDC5_ENST00000400242.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000400248.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000266091.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000400249.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000536766.1_Missense_Mutation_p.P484S|DEPDC5_ENST00000382105.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000382112.3_Missense_Mutation_p.P512S|DEPDC5_ENST00000382111.2_Missense_Mutation_p.P512S|DEPDC5_ENST00000535622.1_Missense_Mutation_p.P512S			O75140	DEPD5_HUMAN	DEP domain containing 5	512					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCGCACACTGCCCACTGAGGA	0.572													T	32211066	C	T	32211066	3	4	326	1	0	0	0	0	1	0	0	0	4481	739	26	2	1612	2	DEPDC5	22	32211066	Missense_Mutation	SNP	C	TCGA-DB-A64Q-01A-11D-A29Q-08		32211066	19093500	26	21771											
RGAG4	340526	broad.mit.edu	37	chrX	71351107	71351107	+	Frame_Shift_Del	DEL	T	T	-																															catccgagatacagtcgggcTccgcgcgtgggggaggccgg																										TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chrX:71351107delT	ENST00000545866.1	-	1	651	c.284delA	c.(283-285)gagfs	p.E95fs	RGAG4_ENST00000609883.1_Frame_Shift_Del_p.E95fs|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	95										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					ACAGTCGGGCTCCGCGCGTGG	0.647													-	71351107	T	-	71351107	7	5	326	1	0	1	0	1	0	0	0	0	13363	1551	54	0	1429	0	RGAG4	23	71351107	Frame_Shift_Del	DEL	T	TCGA-DB-A64Q-01A-11D-A29Q-08		71351107	83919453	27	21772											
FLNA	2316	broad.mit.edu	37	chrX	153595807	153595807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgggttcagtttgggccGcaagggagcccctggcttca	5	10	14	12	2	2	0	2	0	0	0	3	1	2	1	3	4	1	4	3	4	1	4			TCGA-DB-A64Q-01A-11D-A29Q-08	TCGA-DB-A64Q-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb1dc195-0b41-4ff7-8364-7fdcb4a96521	62bd6123-d070-4bde-af89-8177daee0949	g.chrX:153595807G>A	ENST00000422373.1	-	5	1074	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	FLNA_ENST00000360319.4_Missense_Mutation_p.R276W|FLNA_ENST00000369850.3_Missense_Mutation_p.R276W|FLNA_ENST00000344736.4_Missense_Mutation_p.R276W	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	276					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTTTGGGCCGCAAGGGAGCC	0.632													A	153595807	G	A	153595807	3	1	326	1	0	0	0	0	1	0	0	0	5982	1086	38	1	7293	1	FLNA	23	153595807	Missense_Mutation	SNP	G	TCGA-DB-A64Q-01A-11D-A29Q-08	82244700	153595807	1674753	28	21773											
NBAS	51594	broad.mit.edu	37	chr2	15564503	15564503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccataaccttctccaccGtaagctgggtcatcctgaac	10	10	7	14	1	2	1	1	1	1	0	5	1	4	1	5	1	3	2	5	1	3	3	rs144830164		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:15564503G>A	ENST00000281513.5	-	23	2538	c.2513C>T	c.(2512-2514)aCg>aTg	p.T838M	NBAS_ENST00000441750.1_Missense_Mutation_p.T838M	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	838										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CTTCTCCACCGTAAGCTGGGT	0.478													A	15564503	G	A	15564503	3	1	327	1	0	0	0	0	1	0	0	0	10262	1145	40	1	4722	1	NBAS	2	15564503	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		15564503	227634870	1	21774											
NEB	4703	broad.mit.edu	37	chr2	152483595	152483595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaatttcagcttgtccGgaggctggcggtagatgtta	8	13	14	6	2	1	1	1	0	0	1	2	2	2	2	1	5	1	5	1	5	4	5			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:152483595G>A	ENST00000427231.2	-	70	10470	c.10268C>T	c.(10267-10269)cCg>cTg	p.P3423L	NEB_ENST00000603639.1_Missense_Mutation_p.P3423L|NEB_ENST00000172853.10_Missense_Mutation_p.P3180L|NEB_ENST00000604864.1_Missense_Mutation_p.P3423L|NEB_ENST00000409198.1_Missense_Mutation_p.P3180L|NEB_ENST00000397345.3_Missense_Mutation_p.P3423L	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3423					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCTTGTCCGGAGGCTGGCG	0.502													A	152483595	G	A	152483595	3	1	327	1	0	0	0	0	1	0	0	0	10378	1116	39	1	15870	1	NEB	2	152483595	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	136919092	152483595	90715778	2	21775											
EVX2	344191	broad.mit.edu	37	chr2	176948214	176948214	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcccggcttcttgcggctCtcggcggcggaggagatttc	3	10	16	12	5	2	1	0	0	2	1	4	3	2	2	1	7	1	2	1	7	0	3			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr2:176948214C>G	ENST00000308618.4	-	1	427	c.291G>C	c.(289-291)gaG>gaC	p.E97D		NM_001080458.1	NP_001073927.1	Q03828	EVX2_HUMAN	even-skipped homeobox 2	97						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(3)	16			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	READ - Rectum adenocarcinoma(9;0.0678)|Colorectal(32;0.115)		TCTTGCGGCTCTCGGCGGCGG	0.642													G	176948214	C	G	176948214	3	3	327	1	0	0	0	0	1	0	0	0	5336	912	32	4	1149	4	EVX2	2	176948214	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	24464619	176948214	66251159	3	21776											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	327	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	32164898	209113112	34086261	4	21777											
MST1	4485	broad.mit.edu	37	chr3	49723525	49723525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtcgtctgtacaacgccGgatctggtagcaaaaggccg	10	7	12	12	5	2	0	0	0	2	0	3	1	2	1	2	3	3	3	2	3	5	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr3:49723525G>A	ENST00000449682.2	-	9	1478	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	359	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GTACAACGCCGGATCTGGTAG	0.687													A	49723525	G	A	49723525	3	1	327	1	0	0	0	0	1	0	0	0	9966	1115	39	1	1100	1	MST1	3	49723525	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		49723525	148298905	5	21778											
C5orf34	375444	broad.mit.edu	37	chr5	43506078	43506078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcactgcttgacccatgtgTatacacatgtgtgctttgta	9	14	9	9	0	0	1	0	1	0	0	0	1	0	1	1	0	4	5	1	0	3	5			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr5:43506078T>C	ENST00000306862.2	-	4	1079	c.704A>G	c.(703-705)tAc>tGc	p.Y235C	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	235										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					GACCCATGTGTATACACATGT	0.413													C	43506078	T	C	43506078	3	2	327	1	0	0	0	0	1	0	0	0	2315	1638	57	3	1252	3	C5orf34	5	43506078	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		43506078	137409182	6	21779											
FARS2	10667	broad.mit.edu	37	chr6	5771549	5771549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaccagccactgctacCgcatcacgtaccgccacatg	12	5	7	17	3	1	1	1	0	0	1	1	1	1	1	5	0	4	3	5	0	3	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:5771549C>T	ENST00000324331.6	+	7	1579	c.1243C>T	c.(1243-1245)Cgc>Tgc	p.R415C	FARS2_ENST00000274680.4_Missense_Mutation_p.R415C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	415	FDX-ACB.				phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCACTGCTACCGCATCACGTA	0.592													T	5771549	C	T	5771549	3	4	327	1	0	0	0	0	1	0	0	0	5727	652	23	1	1265	1	FARS2	6	5771549	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		5771549	165343518	7	21780											
PNPLA1	285848	broad.mit.edu	37	chr6	36260899	36260899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccccccgacttaccgcgGtgtggtgagtgcttcggcat	5	10	12	14	4	0	1	0	1	0	0	2	2	1	1	4	3	2	2	4	3	1	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:36260899G>A	ENST00000394571.2	+	3	500	c.500G>A	c.(499-501)gGt>gAt	p.G167D	PNPLA1_ENST00000388715.3_Missense_Mutation_p.G72D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.G72D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	167	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACTTACCGCGGTGTGGTGAGT	0.637													A	36260899	G	A	36260899	3	1	327	1	0	0	0	0	1	0	0	0	12241	1261	44	2	510	2	PNPLA1	6	36260899	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	30489350	36260899	134854168	8	21781											
KHDC1	80759	broad.mit.edu	37	chr6	73951385	73951385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgtatggtggcacaCtaatggaggtgaccaggtca	10	9	13	9	0	1	1	1	1	0	0	2	2	2	2	2	5	0	2	2	5	2	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr6:73951385C>T	ENST00000370384.3	-	5	1081	c.581G>A	c.(580-582)aGt>aAt	p.S194N	RP11-257K9.8_ENST00000423730.3_Intron|KHDC1_ENST00000257765.5_Missense_Mutation_p.S121N	NM_001251874.1	NP_001238803.1	Q4VXA5	KHDC1_HUMAN	KH homology domain containing 1	194						integral to membrane	RNA binding			large_intestine(1)|lung(4)|skin(1)	6						TGGTGGCACACTAATGGAGGT	0.537													T	73951385	C	T	73951385	3	4	327	1	0	0	0	0	1	0	0	0	8202	565	20	2	136	2	KHDC1	6	73951385	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	37690486	73951385	97163682	9	21782											
ORAI2	80228	broad.mit.edu	37	chr7	102087148	102087148	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccatcagcgagtccccGcatgagcgcatgcaccccta	10	6	8	17	3	1	1	1	1	0	0	3	2	3	1	5	0	4	3	5	0	2	1	rs140584655		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr7:102087148G>A	ENST00000356387.2	+	4	649	c.414G>A	c.(412-414)ccG>ccA	p.P138P	ORAI2_ENST00000478730.2_Silent_p.P138P|ORAI2_ENST00000473939.1_Silent_p.P138P|ORAI2_ENST00000403646.3_Silent_p.P138P|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	138						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						GCGAGTCCCCGCATGAGCGCA	0.617													A	102087148	G	A	102087148	2	1	327	1	0	0	0	0	0	0	0	1	11334	1074	38	1		1	ORAI2	7	102087148	Silent	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		102087148	57051515	10	21783											
SLC7A13	157724	broad.mit.edu	37	chr8	87229764	87229764	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcctatcattaataataTagaccataatgaacccgtga	16	13	4	8	1	1	3	1	2	0	1	2	3	2	3	3	0	1	0	3	0	8	8			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:87229764T>G	ENST00000297524.3	-	3	1217	c.1114A>C	c.(1114-1116)Ata>Cta	p.I372L	SLC7A13_ENST00000419776.2_Missense_Mutation_p.I363L	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	372						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						ATTAATAATATAGACCATAAT	0.323													G	87229764	T	G	87229764	3	3	327	1	0	0	0	0	1	0	0	0	14789	1406	49	5	306	5	SLC7A13	8	87229764	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		87229764	59134258	11	21784											
CSMD3	114788	broad.mit.edu	37	chr8	113364708	113364708	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccatatatctgtctccAattttaattccactgctagg	11	14	4	12	0	2	0	0	0	2	0	4	0	3	0	4	1	2	1	4	1	6	6			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr8:113364708A>G	ENST00000297405.5	-	39	6436	c.6192T>C	c.(6190-6192)atT>atC	p.I2064I	CSMD3_ENST00000352409.3_Silent_p.I1994I|CSMD3_ENST00000455883.2_Silent_p.I1960I|CSMD3_ENST00000343508.3_Silent_p.I2024I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2064	Sushi 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATCTGTCTCCAATTTTAATTC	0.328										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113364708	A	G	113364708	2	3	327	1	0	0	0	0	0	0	0	1	3979	126	5	3		3	CSMD3	8	113364708	Silent	SNP	A	TCGA-DB-A64R-01A-11D-A29Q-08	26134944	113364708	32999314	12	21785											
KDM4C	23081	broad.mit.edu	37	chr9	6805637	6805637	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccaagacagtgctaTgatgacattgataatttgct	13	12	10	6	0	0	4	0	3	0	1	0	5	0	5	1	1	3	2	1	1	4	4			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:6805637T>G	ENST00000381309.3	+	3	748	c.183T>G	c.(181-183)taT>taG	p.Y61*	KDM4C_ENST00000381306.3_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000535193.1_Nonsense_Mutation_p.Y83*|KDM4C_ENST00000489243.1_3'UTR|KDM4C_ENST00000543771.1_Nonsense_Mutation_p.Y61*|KDM4C_ENST00000536108.1_De_novo_Start_OutOfFrame|KDM4C_ENST00000401787.3_Nonsense_Mutation_p.Y61*	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	61					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GACAGTGCTATGATGACATTG	0.368													G	6805637	T	G	6805637	4	3	327	1	0	0	0	0	0	1	0	0	8188	1471	51	5	259	5	KDM4C	9	6805637	Nonsense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		6805637	134407794	13	21786											
UNC13B	10497	broad.mit.edu	37	chr9	35399692	35399692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctcactccaaagcagtGtgcagtccttgacctcgccc	9	9	8	15	1	1	1	1	1	1	0	5	2	3	1	4	0	2	2	4	0	2	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:35399692G>A	ENST00000378495.3	+	35	4277	c.4055G>A	c.(4054-4056)tGt>tAt	p.C1352Y	UNC13B_ENST00000378496.4_Missense_Mutation_p.C1352Y|UNC13B_ENST00000396787.1_Missense_Mutation_p.C1364Y	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1352	MHD2.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCAAAGCAGTGTGCAGTCCTT	0.522													A	35399692	G	A	35399692	3	1	327	1	0	0	0	0	1	0	0	0	17087	1377	48	2	4193	2	UNC13B	9	35399692	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	28594055	35399692	105813739	14	21787											
LCN1	3933	broad.mit.edu	37	chr9	138415819	138415819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcacgggaagccggtccGaggggtgaagctcgtgggtg	6	6	20	9	4	0	1	0	1	0	0	2	3	1	2	2	5	3	3	2	5	2	0			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr9:138415819G>A	ENST00000263598.2	+	4	446	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	LCN1_ENST00000371781.3_Missense_Mutation_p.R129Q	NM_001252617.1|NM_001252618.1|NM_001252619.1|NM_002297.3	NP_001239546.1|NP_001239547.1|NP_001239548.1|NP_002288.1	P31025	LCN1_HUMAN	lipocalin 1	129					proteolysis|response to stimulus|sensory perception of taste	extracellular region	cysteine-type endopeptidase inhibitor activity|transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)	13		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.54e-08)|Epithelial(140;5.25e-08)|all cancers(34;9.27e-07)|READ - Rectum adenocarcinoma(205;0.155)		AAGCCGGTCCGAGGGGTGAAG	0.642													A	138415819	G	A	138415819	3	1	327	1	0	0	0	0	1	0	0	0	8739	1058	37	1	400	1	LCN1	9	138415819	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	103016127	138415819	2797612	15	21788											
SLC26A10	65012	broad.mit.edu	37	chr12	58014090	58014090	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttggacaaggccccctcCccacagcacacctttccatc	9	7	7	18	0	0	0	0	0	0	0	3	1	2	1	6	3	1	2	6	3	1	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr12:58014090C>T	ENST00000379218.2	+	1	398	c.87C>T	c.(85-87)tcC>tcT	p.S29S	SLC26A10_ENST00000320442.4_Silent_p.S29S			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	29						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					AGGCCCCCTCCCCACAGCACA	0.547													T	58014090	C	T	58014090	2	4	327	1	0	0	0	0	0	0	0	1	14609	610	22	2		2	SLC26A10	12	58014090	Silent	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		58014090	75837805	16	21789											
CIB2	10518	broad.mit.edu	37	chr15	78401696	78401696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcctcggaaaacgccGccacgatcctttctttgaag	10	9	7	15	4	1	1	0	1	1	0	4	3	3	2	5	1	1	0	5	1	3	2	rs147498144		TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr15:78401696G>A	ENST00000258930.3	-	4	555	c.227C>T	c.(226-228)gCg>gTg	p.A76V	CIB2_ENST00000557846.1_Missense_Mutation_p.A27V|CIB2_ENST00000539011.1_Missense_Mutation_p.A33V|CIB2_ENST00000560618.1_Missense_Mutation_p.A33V	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	76	EF-hand 1.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						GGAAAACGCCGCCACGATCCT	0.552													A	78401696	G	A	78401696	3	1	327	1	0	0	0	0	1	0	0	0	3451	1087	38	1	348	1	CIB2	15	78401696	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08		78401696	24129696	17	21790											
OR1A1	8383	broad.mit.edu	37	chr17	3119151	3119151	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcatcggtaaccatcccTaagatgctggccaaccatct	10	11	6	14	1	2	1	1	0	2	1	5	1	3	1	4	2	3	2	4	2	3	3			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:3119151T>C	ENST00000304094.1	+	1	237	c.237T>C	c.(235-237)ccT>ccC	p.P79P		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TAACCATCCCTAAGATGCTGG	0.478													C	3119151	T	C	3119151	2	2	327	1	0	0	0	0	0	0	0	1	11025	1509	53	3		3	OR1A1	17	3119151	Silent	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		3119151	78076059	18	21791											
ACTG1	71	broad.mit.edu	37	chr17	79478017	79478017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctgtcggcaatgcccGggtacatggtggtgccgccc	5	8	14	14	3	0	0	0	0	0	0	2	0	1	0	4	4	3	3	4	4	2	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr17:79478017G>A	ENST00000575842.1	-	4	1346	c.920C>T	c.(919-921)cCg>cTg	p.P307L	ACTG1_ENST00000331925.2_Missense_Mutation_p.P307L|ACTG1_ENST00000573283.1_Missense_Mutation_p.P307L|ACTG1_ENST00000575087.1_Missense_Mutation_p.P307L			P63261	ACTG_HUMAN	actin, gamma 1	307					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			GGCAATGCCCGGGTACATGGT	0.607													A	79478017	G	A	79478017	3	1	327	1	0	0	0	0	1	0	0	0	196	1116	39	1	215	1	ACTG1	17	79478017	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	76358866	79478017	1717193	19	21792											
MYOM1	8736	broad.mit.edu	37	chr18	3134811	3134811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggatgattttgccaggagCcttggggatatctgagaaag	10	11	15	5	0	1	2	0	2	1	1	1	6	1	5	2	4	2	0	2	4	2	4			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr18:3134811C>G	ENST00000400569.3	-	16	2554	c.2221G>C	c.(2221-2223)Gct>Cct	p.A741P	MYOM1_ENST00000261606.7_Missense_Mutation_p.A741P|MYOM1_ENST00000356443.4_Missense_Mutation_p.A741P			P52179	MYOM1_HUMAN	myomesin 1	741	Fibronectin type-III 3.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TTGCCAGGAGCCTTGGGGATA	0.428													G	3134811	C	G	3134811	3	3	327	1	0	0	0	0	1	0	0	0	10167	739	26	4	2928	4	MYOM1	18	3134811	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		3134811	74942437	20	21793											
CNN2	1265	broad.mit.edu	37	chr19	1026680	1026681	+	Frame_Shift_Del	DEL	AC	AC	-																															catgagctccacgcagttcaAcaagggcccctcgtacgggc																										TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:1026680_1026681delAC	ENST00000263097.4	+	1	383_384	c.20_21delAC	c.(19-21)aacfs	p.N7fs	CNN2_ENST00000348419.3_Frame_Shift_Del_p.N7fs|CNN2_ENST00000562958.2_Frame_Shift_Del_p.N7fs|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000565096.2_Frame_Shift_Del_p.N7fs	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	7					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		ACGCAGTTCAACAAGGGCCCCT	0.762													-	1026681	AC	-	1026680	7	5	327	1	0	1	0	1	0	0	0	0	3641	43	2	0	22	0	CNN2	19	1026680	Frame_Shift_Del	DEL	AC	TCGA-DB-A64R-01A-11D-A29Q-08		1026680	58102303	21	21794											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								T	42799059	C	T	42799059	3	4	327	1	0	0	0	0	1	0	0	0	3454	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08	41772379	42799059	16329924	22	21795											
DIDO1	11083	broad.mit.edu	37	chr20	61527924	61527924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggagcgtctgatattttgCcgaatttgtgaatttggctg	9	15	12	5	2	1	2	0	2	1	0	1	4	1	3	1	2	2	1	1	2	4	5			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr20:61527924C>T	ENST00000266070.4	-	7	2338	c.2013G>A	c.(2011-2013)cgG>cgA	p.R671R	DIDO1_ENST00000395335.2_Silent_p.R671R|DIDO1_ENST00000395340.1_Silent_p.R671R|DIDO1_ENST00000395343.1_Silent_p.R671R	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	671	TFIIS central.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					TGATATTTTGCCGAATTTGTG	0.478													T	61527924	C	T	61527924	2	4	327	1	0	0	0	0	0	0	0	1	4561	726	26	2		2	DIDO1	20	61527924	Silent	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		61527924	1497596	23	21796											
KRTAP10-5	386680	broad.mit.edu	37	chr21	45999779	45999779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggcctgcatatggggCggcagaggagggacacggag	9	3	21	8	3	0	1	0	0	0	1	0	4	0	4	1	8	1	2	1	8	1	1			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chr21:45999779C>A	ENST00000400372.1	-	1	702	c.677G>T	c.(676-678)cGc>cTc	p.R226L	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	226	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GCATATGGGGCGGCAGAGGAG	0.682													A	45999779	C	A	45999779	3	1	327	1	0	0	0	0	1	0	0	0	8570	768	27	4	142	4	KRTAP10-5	21	45999779	Missense_Mutation	SNP	C	TCGA-DB-A64R-01A-11D-A29Q-08		45999779	2130116	24	21797											
YY2	404281	broad.mit.edu	37	chrX	21875533	21875533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacaccggcgagaagcccTttcagtgcacattcgaaggc	10	7	10	14	3	1	1	1	0	0	1	3	3	2	1	3	2	2	1	3	2	2	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:21875533T>C	ENST00000429584.2	+	1	1429	c.931T>C	c.(931-933)Ttt>Ctt	p.F311L	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000379484.5_Intron	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	311	Mediates transcriptional repression.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						CGAGAAGCCCTTTCAGTGCAC	0.557													C	21875533	T	C	21875533	3	2	327	1	0	0	0	0	1	0	0	0	17611	1609	56	3	933	3	YY2	23	21875533	Missense_Mutation	SNP	T	TCGA-DB-A64R-01A-11D-A29Q-08		21875533	133395027	25	21798											
SLC35A2	7355	broad.mit.edu	37	chrX	48763802	48763802	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcctcatggaggaagagaAccaggtgcttcacgttacct	11	8	11	11	1	2	1	2	0	0	1	2	4	2	3	3	3	4	2	3	3	3	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:48763802A>T	ENST00000376521.1	-	3	614	c.293T>A	c.(292-294)gTt>gAt	p.V98D	SLC35A2_ENST00000376515.3_Missense_Mutation_p.V74D|SLC35A2_ENST00000247138.5_Missense_Mutation_p.V98D|SLC35A2_ENST00000376512.1_Missense_Mutation_p.V98D|SLC35A2_ENST00000413561.2_Missense_Mutation_p.V37D|SLC35A2_ENST00000452555.2_Missense_Mutation_p.V126D|SLC35A2_ENST00000376529.3_Missense_Mutation_p.V98D|SLC35A2_ENST00000445167.2_Missense_Mutation_p.V98D	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	98					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAGGAAGAGAACCAGGTGCTT	0.552													T	48763802	A	T	48763802	3	4	327	1	0	0	0	0	1	0	0	0	14665	43	2	5	1065	5	SLC35A2	23	48763802	Missense_Mutation	SNP	A	TCGA-DB-A64R-01A-11D-A29Q-08	26888269	48763802	106506758	26	21799											
RENBP	5973	broad.mit.edu	37	chrX	153209006	153209006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctcacacacctggtaccGcacttcccctgtggctctcc	5	10	6	20	1	2	0	1	0	2	0	5	0	3	0	6	2	1	3	6	2	1	2			TCGA-DB-A64R-01A-11D-A29Q-08	TCGA-DB-A64R-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6aabc71-ee6f-4087-935b-bbfc98402bef	a23d80d0-edbd-48e9-9e2a-db845766e840	g.chrX:153209006G>A	ENST00000393700.3	-	5	534	c.454C>T	c.(454-456)Cgg>Tgg	p.R152W	RENBP_ENST00000369997.3_Missense_Mutation_p.R138W|RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.R152W	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	152					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ACCTGGTACCGCACTTCCCCT	0.622													A	153209006	G	A	153209006	3	1	327	1	0	0	0	0	1	0	0	0	13313	1086	38	1	857	1	RENBP	23	153209006	Missense_Mutation	SNP	G	TCGA-DB-A64R-01A-11D-A29Q-08	104445204	153209006	2061554	27	21800											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	328	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		209113113	34086260	1	21801											
EMCN	51705	broad.mit.edu	37	chr4	101331483	101331483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcctcaagctgtcagtTcttggtttttccttgtgcag	6	17	9	9	0	3	0	2	0	1	0	5	1	5	0	2	1	2	4	2	1	2	6			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr4:101331483T>C	ENST00000296420.4	-	11	959	c.781A>G	c.(781-783)Aac>Gac	p.N261D	EMCN_ENST00000305864.3_Missense_Mutation_p.N178D|EMCN_ENST00000511970.1_Missense_Mutation_p.N248D	NM_001159694.1|NM_016242.3	NP_001153166.1|NP_057326.2	Q9ULC0	MUCEN_HUMAN	endomucin	261						extracellular region|integral to membrane|plasma membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.49e-08)		AGCTGTCAGTTCTTGGTTTTT	0.388													C	101331483	T	C	101331483	3	2	328	1	0	0	0	0	1	0	0	0	5127	1783	62	3	8	3	EMCN	4	101331483	Missense_Mutation	SNP	T	TCGA-DB-A64S-01A-11D-A29Q-08		101331483	89822793	2	21802											
FNIP2	57600	broad.mit.edu	37	chr4	159772589	159772589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaagtttggaaaatggcAtcatcccaagaaggtgagtt	15	9	10	7	0	1	2	1	1	0	1	2	3	2	3	1	3	1	3	1	3	6	2			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr4:159772589A>G	ENST00000264433.6	+	8	919	c.844A>G	c.(844-846)Atc>Gtc	p.I282V	FNIP2_ENST00000379346.3_Missense_Mutation_p.I305V	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	282					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		GGAAAATGGCATCATCCCAAG	0.488													G	159772589	A	G	159772589	3	3	328	1	0	0	0	0	1	0	0	0	6025	217	8	3	874	3	FNIP2	4	159772589	Missense_Mutation	SNP	A	TCGA-DB-A64S-01A-11D-A29Q-08	58441106	159772589	31381687	3	21803											
SLC6A19	340024	broad.mit.edu	37	chr5	1214087	1214087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacggagctggcccagcCggacacctggctggacgcgg	6	4	17	14	4	1	0	1	0	0	0	1	3	1	3	3	7	2	2	3	7	0	0	rs148139045	by1000genomes	TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:1214087C>A	ENST00000304460.10	+	6	850	c.794C>A	c.(793-795)cCg>cAg	p.P265Q		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	265					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CTGGCCCAGCCGGACACCTGG	0.657													A	1214087	C	A	1214087	3	1	328	1	0	0	0	0	1	0	0	0	14776	652	23	4	816	4	SLC6A19	5	1214087	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		1214087	179701173	4	21804											
HCN1	348980	broad.mit.edu	37	chr5	45262043	45262043	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatttgaagcaaatcGtggcttttctgcgtctgggt	9	15	10	7	2	3	1	1	1	2	0	4	1	3	1	0	2	2	2	0	2	4	4			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr5:45262043G>A	ENST00000303230.4	-	8	2710	c.2653C>T	c.(2653-2655)Cga>Tga	p.R885*		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	885						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GAAGCAAATCGTGGCTTTTCT	0.453													A	45262043	G	A	45262043	4	1	328	1	0	0	0	0	0	1	0	0	7051	1153	40	1	23	1	HCN1	5	45262043	Nonsense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	44047956	45262043	135653217	5	21805											
MUC21	394263	broad.mit.edu	37	chr6	30954979	30954979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgacctccagtggggccAgcacagccaccaactctgag	10	4	11	16	1	1	1	0	1	1	0	2	2	2	1	5	2	3	2	5	2	1	0			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr6:30954979A>G	ENST00000376296.3	+	2	1268	c.1027A>G	c.(1027-1029)Agc>Ggc	p.S343G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	343	28 X 15 AA approximate tandem repeats.|Ser-rich.			S -> N (in Ref. 3; AAQ88781 and 4; CAQ08321).		integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						CAGTGGGGCCAGCACAGCCAC	0.637													G	30954979	A	G	30954979	3	3	328	1	0	0	0	0	1	0	0	0	10053	188	7	3	1033	3	MUC21	6	30954979	Missense_Mutation	SNP	A	TCGA-DB-A64S-01A-11D-A29Q-08		30954979	140160088	6	21806											
DST	667	broad.mit.edu	37	chr6	56483617	56483617	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accagattcttcctgaaacaGaaccatctttctgtgggtca	11	12	7	11	0	4	3	1	1	3	2	5	3	5	3	3	1	2	0	3	1	2	3			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr6:56483617G>C	ENST00000370765.6	-	23	5322	c.5215C>G	c.(5215-5217)Ctg>Gtg	p.L1739V	DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1118					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCTGAAACAGAACCATCTTT	0.373													C	56483617	G	C	56483617	3	2	328	1	0	0	0	0	1	0	0	0	4822	933	33	4	15188	4	DST	6	56483617	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	25528638	56483617	114631450	7	21807											
ELN	2006	broad.mit.edu	37	chr7	73474792	73474792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttggtgctggtgttcctGgacttggagttggtgctggt	3	15	18	5	0	0	0	0	0	0	0	1	3	1	2	1	6	2	5	1	6	0	4			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr7:73474792G>C	ENST00000252034.7	+	25	2107	c.1708G>C	c.(1708-1710)Gga>Cga	p.G570R	ELN_ENST00000357036.5_Missense_Mutation_p.G575R|ELN_ENST00000458204.1_Missense_Mutation_p.G560R|ELN_ENST00000358929.4_Missense_Mutation_p.G605R|ELN_ENST00000445912.1_Missense_Mutation_p.G570R|ELN_ENST00000380575.4_Missense_Mutation_p.G541R|ELN_ENST00000380562.4_Missense_Mutation_p.G576R|ELN_ENST00000380584.4_Missense_Mutation_p.G522R|ELN_ENST00000414324.1_Missense_Mutation_p.G546R|ELN_ENST00000380553.4_Missense_Mutation_p.G434R|ELN_ENST00000320492.7_Missense_Mutation_p.G489R|ELN_ENST00000380576.5_Missense_Mutation_p.G551R|ELN_ENST00000429192.1_Missense_Mutation_p.G556R|ELN_ENST00000320399.6_Missense_Mutation_p.G570R|CTB-51J22.1_ENST00000435932.1_RNA	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	599	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TGGTGTTCCTGGACTTGGAGT	0.622			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						C	73474792	G	C	73474792	3	2	328	1	0	0	0	0	1	0	0	0	5112	1349	47	4	1821	4	ELN	7	73474792	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		73474792	85663871	8	21808											
CDHR5	53841	broad.mit.edu	37	chr11	618812	618812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggttcccatactgggggGcatcggctgagaggttcctg	5	10	16	10	1	0	1	0	1	0	1	3	2	2	1	2	6	1	5	2	6	1	3			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr11:618812G>A	ENST00000358353.3	-	14	2069	c.1747C>T	c.(1747-1749)Ccc>Tcc	p.P583S	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Missense_Mutation_p.P583S			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	583	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						ATACTGGGGGGCATCGGCTGA	0.687													A	618812	G	A	618812	3	1	328	1	0	0	0	0	1	0	0	0	3152	1203	42	2	802	2	CDHR5	11	618812	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		618812	134387704	9	21809											
RIMBP2	23504	broad.mit.edu	37	chr12	130919389	130919389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcggcgtactgccccgCgctgcttctctctaggaaga	6	9	13	13	4	2	2	0	1	2	1	3	3	2	3	2	3	3	3	2	3	3	3			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr12:130919389C>T	ENST00000261655.4	-	11	2255	c.2092G>A	c.(2092-2094)Gcg>Acg	p.A698T	RIMBP2_ENST00000536002.1_Missense_Mutation_p.A606T|RIMBP2_ENST00000535703.1_Missense_Mutation_p.A606T	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	698						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TACTGCCCCGCGCTGCTTCTC	0.592													T	130919389	C	T	130919389	3	4	328	1	0	0	0	0	1	0	0	0	13452	768	27	1	1102	1	RIMBP2	12	130919389	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		130919389	2932506	10	21810											
TP53	7157	broad.mit.edu	37	chr17	7578268	7578268	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttccttccactcggataAgatgctgaggaggggccaga	11	9	12	9	1	0	3	0	1	0	2	3	5	2	5	3	4	1	1	3	4	2	3			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:7578268A>C	ENST00000420246.2	-	6	713	c.581T>G	c.(580-582)cTt>cGt	p.L194R	TP53_ENST00000269305.4_Missense_Mutation_p.L194R|TP53_ENST00000445888.2_Missense_Mutation_p.L194R|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.L194R|TP53_ENST00000359597.4_Missense_Mutation_p.L194R|TP53_ENST00000413465.2_Missense_Mutation_p.L194R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	194	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L194R(47)|p.L194P(8)|p.L194H(8)|p.0?(8)|p.?(6)|p.L101R(5)|p.L62R(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.L194fs*15(1)|p.L194fs*14(1)|p.L101H(1)|p.L194fs*52(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.L62H(1)|p.I195fs*52(1)|p.H193_I195>AP(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)		CACTCGGATAAGATGCTGAGG	0.552		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)			C	7578268	A	C	7578268	3	2	328	1	0	0	0	0	1	0	0	0	16482	72	3	5	713	5	TP53	17	7578268	Missense_Mutation	SNP	A	TCGA-DB-A64S-01A-11D-A29Q-08		7578268	73616942	11	21811											
CD300LB	124599	broad.mit.edu	37	chr17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatggtcacagtgaacGtgcggtctttctgattgtcc	6	13	10	12	2	3	2	1	2	2	0	5	2	5	2	3	2	2	0	3	2	1	2			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522													A	72522000	G	A	72522000	3	1	328	1	0	0	0	0	1	0	0	0	3029	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	64943732	72522000	8673210	12	21812											
KDELR1	10945	broad.mit.edu	37	chr19	48887586	48887586	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctcgaaatggtagcGccagatccagttgaagagat	13	7	12	9	2	0	3	0	1	0	2	2	6	1	3	3	1	2	2	3	1	4	2			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chr19:48887586G>A	ENST00000597017.1	-	3	744	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C	KDELR1_ENST00000330720.2_Missense_Mutation_p.R169C			P24390	ERD21_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 1	169					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane|membrane fraction	KDEL sequence binding|protein binding|receptor activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|pancreas(1)|urinary_tract(1)	11		all_epithelial(76;2.48e-06)|all_lung(116;5.76e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Prostate(7;0.122)|Breast(70;0.203)		all cancers(93;0.000114)|OV - Ovarian serous cystadenocarcinoma(262;0.000136)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.0145)		AAATGGTAGCGCCAGATCCAG	0.542													A	48887586	G	A	48887586	3	1	328	1	0	0	0	0	1	0	0	0	8177	1087	38	1	141	1	KDELR1	19	48887586	Missense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08		48887586	10241397	13	21813											
FAM47A	158724	broad.mit.edu	37	chrX	34148780	34148780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggcggagactggacactCgacgagtcttgggaggctcc	7	6	16	12	4	1	1	0	0	1	1	3	6	2	3	2	5	0	1	2	5	0	1			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:34148780C>T	ENST00000346193.3	-	1	1667	c.1616G>A	c.(1615-1617)cGa>cAa	p.R539Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	539										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACTGGACACTCGACGAGTCTT	0.642													T	34148780	C	T	34148780	3	4	328	1	0	0	0	0	1	0	0	0	5620	884	31	1	763	1	FAM47A	23	34148780	Missense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08		34148780	121121780	14	21814											
ATRX	546	broad.mit.edu	37	chrX	76888813	76888813	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataacaccaccatcttcttgCcacctctgcagcatgtagct	10	11	5	15	0	3	0	0	0	3	0	3	0	3	0	4	0	5	4	4	0	2	4			TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76888813C>T	ENST00000373344.5	-	19	5230	c.5016G>A	c.(5014-5016)tgG>tgA	p.W1672*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.W1634*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1672	Helicase ATP-binding.				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)	CATCTTCTTGCCACCTCTGCA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76888813	C	T	76888813	4	4	328	1	0	0	0	0	0	1	0	0	1213	740	26	2	2530	2	ATRX	23	76888813	Nonsense_Mutation	SNP	C	TCGA-DB-A64S-01A-11D-A29Q-08	42740033	76888813	78381747	15	21815											
ATRX	546	broad.mit.edu	37	chrX	76939874	76939874	+	Nonsense_Mutation	SNP	G	G	A																															tatcttcttcttattttgctGcaacaactgttctaaattct																										TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939874G>A	ENST00000373344.5	-	9	1088	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q254*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	292	ADD.				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)	TTATTTTGCTGCAACAACTGT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939874	G	A	76939874	4	1	328	1	0	0	0	0	0	1	0	0	1213	1328	46	2	6712	2	ATRX	23	76939874	Nonsense_Mutation	SNP	G	TCGA-DB-A64S-01A-11D-A29Q-08	51061	76939874	78330686	16	21816	32	2									
ATRX	546	broad.mit.edu	37	chrX	76939882	76939890	+	In_Frame_Del	DEL	TGTTCTAAA	TGTTCTAAA	-																															tcttattttgctgcaacaacTgttctaaattctcaaatacg																										TCGA-DB-A64S-01A-11D-A29Q-08	TCGA-DB-A64S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5e7742b-cbce-4c9b-b14f-650885317983	aebdc4a8-e540-47d7-8ffb-a79d833f12be	g.chrX:76939882_76939890delTGTTCTAAA	ENST00000373344.5	-	9	1072_1080	c.858_866delTTTAGAACA	c.(856-867)aatttagaacag>aag	p.286_289NLEQ>K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_In_Frame_Del_p.248_251NLEQ>K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	286	ADD.				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)	CTGCAACAACTGTTCTAAATTCTCAAATA	0.354			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939890	TGTTCTAAA	-	76939882	7	5	328	1	0	1	0	1	0	0	0	0	1213	1580	55	0	6720	0	ATRX	23	76939882	In_Frame_Del	DEL	TGTTCTAAA	TCGA-DB-A64S-01A-11D-A29Q-08	8	76939882	78330678	17	21817	32	2									
EMILIN1	11117	broad.mit.edu	37	chr2	27305238	27305238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcaacaaccatcatggcGgcagcagcagcagtgggggc	11	4	13	13	1	2	0	2	0	0	0	2	0	2	0	2	4	5	4	2	4	2	0			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:27305238G>A	ENST00000380320.4	+	4	1298	c.799G>A	c.(799-801)Ggc>Agc	p.G267S		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	267					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCATGGCGGCAGCAGCAG	0.672													A	27305238	G	A	27305238	3	1	329	1	0	0	0	0	1	0	0	0	5134	1116	39	1	813	1	EMILIN1	2	27305238	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		27305238	215894135	1	21818											
FBXO11	80204	broad.mit.edu	37	chr2	48035296	48035297	+	Frame_Shift_Del	DEL	AG	AG	-																															ttagattctataggtggagcAgagtcatatagtgtatctgt																										TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:48035296_48035297delAG	ENST00000403359.3	-	23	2816_2817	c.2744_2745delCT	c.(2743-2745)tctfs	p.S915fs	FBXO11_ENST00000316377.4_Frame_Shift_Del_p.S831fs|FBXO11_ENST00000405808.1_Intron|FBXO11_ENST00000402508.1_Frame_Shift_Del_p.S831fs|FBXO11_ENST00000434523.2_Frame_Shift_Del_p.S339fs|MSH6_ENST00000234420.5_3'UTR	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	915					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TAGGTGGAGCAGAGTCATATAG	0.381			"Mis, F, D"		DLBCL								-	48035297	AG	-	48035296	7	5	329	1	0	1	0	1	0	0	0	0	5776	175	7	0	42	0	FBXO11	2	48035296	Frame_Shift_Del	DEL	AG	TCGA-DB-A64U-01A-11D-A29Q-08	20730058	48035296	195164077	2	21819											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	329	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08	161077816	209113112	34086261	3	21820											
PDE6B	5158	broad.mit.edu	37	chr4	663881	663881	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacccaagtcttcaacCtgctgtatcctgtgagcact	9	10	7	15	0	2	1	1	1	1	0	3	1	3	1	4	0	4	4	4	0	3	2			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr4:663881C>A	ENST00000255622.6	+	22	2590	c.2547C>A	c.(2545-2547)acC>acA	p.T849T	PDE6B_ENST00000496514.1_Silent_p.T850T|PDE6B_ENST00000429163.2_Silent_p.T571T	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	850					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						AGTCTTCAACCTGCTGTATCC	0.532													A	663881	C	A	663881	2	1	329	1	0	0	0	0	0	0	0	1	11722	668	24	4		4	PDE6B	4	663881	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		663881	190490395	4	21821											
C6orf136	221545	broad.mit.edu	37	chr6	30618837	30618837	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtggaattcatcaatGagatcctcaacatacgtacc	13	11	8	9	1	3	1	3	1	0	1	4	4	4	3	2	2	3	1	2	2	5	3			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:30618837G>T	ENST00000293604.6	+	3	1277	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	C6orf136_ENST00000376471.4_Nonsense_Mutation_p.E47*|C6orf136_ENST00000376473.5_Nonsense_Mutation_p.E181*|C6orf136_ENST00000528347.2_Nonsense_Mutation_p.E38*	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	181										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ATTCATCAATGAGATCCTCAA	0.488													T	30618837	G	T	30618837	4	4	329	1	0	0	0	0	0	1	0	0	2353	1291	45	4	1094	4	C6orf136	6	30618837	Nonsense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		30618837	140496230	5	21822											
EHMT2	10919	broad.mit.edu	37	chr6	31848860	31848860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagcatcagagatcagctcCccgacatacctgtgggacag	11	7	10	13	1	3	1	3	0	0	1	4	4	4	2	3	1	3	2	3	1	1	1			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:31848860C>T	ENST00000395728.3	-	25	3377	c.3378G>A	c.(3376-3378)ggG>ggA	p.G1126G	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Silent_p.G1092G|EHMT2_ENST00000375530.4_Silent_p.G1035G|EHMT2_ENST00000375537.4_Silent_p.G1069G			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1069	SET.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						AGATCAGCTCCCCGACATACC	0.532													T	31848860	C	T	31848860	2	4	329	1	0	0	0	0	0	0	0	1	5023	610	22	2		2	EHMT2	6	31848860	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08	1230023	31848860	139266207	6	21823											
SNX14	57231	broad.mit.edu	37	chr6	86237978	86237978	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attaatacagttgatgttatAcctgtagatattcttggaac	13	16	7	5	0	1	2	0	1	1	1	1	3	1	3	1	1	3	3	1	1	7	9			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:86237978A>G	ENST00000314673.3	-	20	2172		c.e20+1		SNX14_ENST00000508980.1_Splice_Site|SNX14_ENST00000513865.1_Intron|SNX14_ENST00000346348.3_Splice_Site|SNX14_ENST00000505648.1_Splice_Site|SNX14_ENST00000369627.2_Splice_Site	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14						cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TTGATGTTATACCTGTAGATA	0.343													G	86237978	A	G	86237978	5	3	329	1	0	0	0	0	0	0	1	0	14979	405	14	3	883	3	SNX14	6	86237978	Splice_Site	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	54389118	86237978	84877089	7	21824											
SERAC1	84947	broad.mit.edu	37	chr6	158537270	158537270	+	Frame_Shift_Del	DEL	C	C	-																															tatccccaacaccagcagctCtgagcttcctaagaagttcg																										TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr6:158537270delC	ENST00000367102.2	-	15	1633	c.1492delG	c.(1492-1494)gagfs	p.E498fs	SERAC1_ENST00000367104.3_Frame_Shift_Del_p.R483fs|SERAC1_ENST00000367101.1_Frame_Shift_Del_p.E498fs			Q96JX3	SRAC1_HUMAN	serine active site containing 1	0					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ACCAGCAGCTCTGAGCTTCCT	0.448													-	158537270	C	-	158537270	7	5	329	1	0	1	0	1	0	0	0	0	14167	913	32	0	532	0	SERAC1	6	158537270	Frame_Shift_Del	DEL	C	TCGA-DB-A64U-01A-11D-A29Q-08	72299292	158537270	12577797	8	21825											
SSPO	23145	broad.mit.edu	37	chr7	149530949	149530949	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtgagtccacagctgtcCctcttgtgatcatgggactc	6	12	12	11	0	2	2	1	2	1	0	5	3	4	3	2	2	1	1	2	2	0	1			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr7:149530949C>T	ENST00000378016.2	+	0	15478							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CACAGCTGTCCCTCTTGTGAT	0.577													T	149530949	C	T	149530949	1	4	329	0	1	0	0	0	0	0	0	0	15285	638	22	2		2	SSPO	7	149530949	RNA	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		149530949	9607714	9	21826											
ZW10	9183	broad.mit.edu	37	chr11	113608372	113608372	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagccttgcaatatatattCactggcaggacatcctgcca	12	11	7	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	2	3	2	5	6			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr11:113608372C>A	ENST00000200135.3	-	14	2082	c.1938G>T	c.(1936-1938)gtG>gtT	p.V646V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	646					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding	p.V646V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATATATATTCACTGGCAGGA	0.418													A	113608372	C	A	113608372	2	1	329	1	0	0	0	0	0	0	0	1	18344	813	29	4		4	ZW10	11	113608372	Silent	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		113608372	21398144	10	21827											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788091	3788091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacttactcttccaacaCcttttgggctccaagtctgt	8	13	5	15	0	2	0	0	0	2	0	4	0	4	0	4	1	2	1	4	1	3	4			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:3788091C>T	ENST00000440314.2	-	6	987	c.514G>A	c.(514-516)Gtg>Atg	p.V172M	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.V172M|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.V172M	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	172					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TCTTCCAACACCTTTTGGGCT	0.498													T	3788091	C	T	3788091	3	4	329	1	0	0	0	0	1	0	0	0	4976	507	18	2	1933	2	EFCAB4B	12	3788091	Missense_Mutation	SNP	C	TCGA-DB-A64U-01A-11D-A29Q-08		3788091	130063804	11	21828											
PDE3A	5139	broad.mit.edu	37	chr12	20786709	20786709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccactcggacaccaagtagaAcaggtaattcattgttttgg	12	11	9	9	1	1	1	1	0	0	1	2	2	1	2	2	3	1	3	2	3	4	6	rs113434458		TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:20786709A>G	ENST00000359062.3	+	7	1883	c.1843A>G	c.(1843-1845)Aca>Gca	p.T615A	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	615					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACCAAGTAGAACAGGTAATTC	0.413													G	20786709	A	G	20786709	3	3	329	1	0	0	0	0	1	0	0	0	11713	43	2	3	1869	3	PDE3A	12	20786709	Missense_Mutation	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	16998618	20786709	113065186	12	21829											
HSPB8	26353	broad.mit.edu	37	chr12	119617317	119617317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaggcaccctaaggtcggGcatggtgccccggggcccca	6	4	15	16	2	0	0	0	0	0	0	1	0	0	0	6	6	1	2	6	6	1	1			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr12:119617317G>A	ENST00000281938.2	+	1	871	c.200G>A	c.(199-201)gGc>gAc	p.G67D		NM_014365.2	NP_055180.1	Q9UJY1	HSPB8_HUMAN	heat shock 22kDa protein 8	67			G -> S (in a glioblastoma multiforme sample; somatic mutation).		cell death|response to heat	cytoplasm|nucleus	identical protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|skin(1)	14	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CTAAGGTCGGGCATGGTGCCC	0.692													A	119617317	G	A	119617317	3	1	329	1	0	0	0	0	1	0	0	0	7481	1203	42	2	202	2	HSPB8	12	119617317	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08	98830608	119617317	14234578	13	21830											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334308	39334308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacacacagcagctggggcGgcagcaggtggtcctgcagc	8	4	17	12	1	0	0	0	0	0	0	1	1	1	1	1	6	5	5	1	6	0	0			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:39334308G>A	ENST00000377726.2	-	1	152	c.109C>T	c.(109-111)Cgc>Tgc	p.R37C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	37	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657													A	39334308	G	A	39334308	3	1	329	1	0	0	0	0	1	0	0	0	8610	1116	39	1	305	1	KRTAP4-2	17	39334308	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08		39334308	41860902	14	21831											
SEC14L1	6397	broad.mit.edu	37	chr17	75190803	75190803	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgccaattagaagaagaAggcataacctttgtgccccg	12	9	9	11	2	0	3	0	0	0	3	1	3	0	3	4	1	2	1	4	1	6	4			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr17:75190803A>G	ENST00000413679.2	+	7	822	c.519A>G	c.(517-519)gaA>gaG	p.E173E	SEC14L1_ENST00000443798.4_Silent_p.E173E|SEC14L1_ENST00000436233.4_Silent_p.E173E|SEC14L1_ENST00000585618.1_Silent_p.E173E|SEC14L1_ENST00000392476.2_Silent_p.E173E|SEC14L1_ENST00000430767.4_Silent_p.E173E|SEC14L1_ENST00000591437.1_Silent_p.E139E|SEC14L1_ENST00000431431.2_Silent_p.E139E	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	173	PRELI/MSF1.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TAGAAGAAGAAGGCATAACCT	0.423													G	75190803	A	G	75190803	2	3	329	1	0	0	0	0	0	0	0	1	14074	69	3	3		3	SEC14L1	17	75190803	Silent	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08	35856495	75190803	6004407	15	21832											
FSD1	79187	broad.mit.edu	37	chr19	4310577	4310577	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggcagatgctacaggcActcaagttcctgcctggtga	9	8	13	11	1	1	2	1	1	0	1	2	3	2	2	2	3	4	4	2	3	2	2			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:4310577A>G	ENST00000221856.6	+	6	621	c.474A>G	c.(472-474)gcA>gcG	p.A158A	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Silent_p.A158A	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	158	COS.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCTACAGGCACTCAAGTTCC	0.587													G	4310577	A	G	4310577	2	3	329	1	0	0	0	0	0	0	0	1	6122	146	6	3		3	FSD1	19	4310577	Silent	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08		4310577	54818406	16	21833											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								A	42799051	G	A	42799051	3	1	329	1	0	0	0	0	1	0	0	0	3454	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-DB-A64U-01A-11D-A29Q-08	38488474	42799051	16329932	17	21834											
CTPS2	56474	broad.mit.edu	37	chrX	16608918	16608918	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcatgtattcatttcAgcttatttccaactcagcta	10	15	4	12	0	4	0	4	0	0	0	5	0	5	0	2	0	3	3	2	0	4	6			TCGA-DB-A64U-01A-11D-A29Q-08	TCGA-DB-A64U-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c389c4d-e9d7-4471-922e-ae545d0d9b65	4e28b253-e110-458f-b4f3-aa7de270d04a	g.chrX:16608918A>T	ENST00000443824.1	-	18	2502	c.1759T>A	c.(1759-1761)Tga>Aga	p.*587R	CTPS2_ENST00000483053.1_5'UTR|CTPS2_ENST00000359276.4_Nonstop_Mutation_p.*587R|CTPS2_ENST00000380241.3_Nonstop_Mutation_p.*587R	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	0					glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					TATTCATTTCAGCTTATTTCC	0.413													T	16608918	A	T	16608918	4	4	329	1	0	0	0	0	0	0	0	0	4056	201	7	5	5	5	CTPS2	23	16608918	Nonstop_Mutation	SNP	A	TCGA-DB-A64U-01A-11D-A29Q-08		16608918	138661642	18	21835											
HIVEP3	59269	broad.mit.edu	37	chr1	42046935	42046935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagggaggaagtgggggCatggagtatggtgaggacag	12	5	22	2	0	0	1	0	1	0	0	0	6	0	6	0	8	0	2	0	8	3	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:42046935C>T	ENST00000372584.1	-	3	4548	c.3534G>A	c.(3532-3534)atG>atA	p.M1178I	HIVEP3_ENST00000429157.2_Missense_Mutation_p.M1178I|HIVEP3_ENST00000372583.1_Missense_Mutation_p.M1178I|HIVEP3_ENST00000247584.5_Missense_Mutation_p.M1178I	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1178					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)				GAAGTGGGGGCATGGAGTATG	0.577													T	42046935	C	T	42046935	3	4	330	1	0	0	0	0	1	0	0	0	7243	710	25	2	3710	2	HIVEP3	1	42046935	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		42046935	207203686	1	21836											
FUBP1	8880	broad.mit.edu	37	chr1	78430553	78430553	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagtataaagttaagtttActtgaactttatatgggtct	14	17	7	3	0	1	1	0	1	1	0	1	1	1	1	0	1	2	3	0	1	10	10			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:78430553A>G	ENST00000370767.1	-	9	823		c.e9+1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTTAAGTTTACTTGAACTTT	0.368			"F, N"		oligodendroglioma								G	78430553	A	G	78430553	5	3	330	1	0	0	0	0	0	0	1	0	6144	405	14	3	1245	3	FUBP1	1	78430553	Splice_Site	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08	36383618	78430553	170820068	2	21837											
FDPS	2224	broad.mit.edu	37	chr1	155279639	155279639	+	Frame_Shift_Del	DEL	G	G	-																															cctgctgccagccccctactGggcaccccgggagaggtggc																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:155279639delG	ENST00000356657.6	+	2	221	c.59delG	c.(58-60)tggfs	p.W20fs	FDPS_ENST00000447866.1_Intron|FDPS_ENST00000487002.1_3'UTR|FDPS_ENST00000368356.4_Frame_Shift_Del_p.W20fs	NM_001135821.1	NP_001129293.1	P14324	FPPS_HUMAN	farnesyl diphosphate synthase	20					cholesterol biosynthetic process|interspecies interaction between organisms|isoprenoid biosynthetic process	cytosol|nucleus	dimethylallyltranstransferase activity|geranyltranstransferase activity|metal ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	10	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;2.03e-10)|all cancers(21;5.23e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)		Alendronate(DB00630)|Ibandronate(DB00710)|Pamidronate(DB00282)|Risedronate(DB00884)|Zoledronate(DB00399)	GCCCCCTACTGGGCACCCCGG	0.687													-	155279639	G	-	155279639	7	5	330	1	0	1	0	1	0	0	0	0	5852	1357	47	0	61	0	FDPS	1	155279639	Frame_Shift_Del	DEL	G	TCGA-DB-A64V-01A-11D-A29Q-08	76849086	155279639	93970982	3	21838											
OR10X1	128367	broad.mit.edu	37	chr1	158548933	158548933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggcacaggtggtgaaggCcttctgcttgccctcagctg	6	9	15	11	0	2	1	1	1	1	0	2	2	2	2	2	5	3	3	2	5	1	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr1:158548933C>T	ENST00000368150.1	-	1	756	c.757G>A	c.(757-759)Gcc>Acc	p.A253T		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					GTGGTGAAGGCCTTCTGCTTG	0.483													T	158548933	C	T	158548933	3	4	330	1	0	0	0	0	1	0	0	0	10998	739	26	2	218	2	OR10X1	1	158548933	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	3269294	158548933	90701688	4	21839											
POLR1A	25885	broad.mit.edu	37	chr2	86302160	86302160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttactcacaatttttGtcccctggggcttaggtgcc	5	14	9	13	0	1	0	1	0	0	0	2	0	2	0	4	3	3	1	4	3	3	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:86302160G>A	ENST00000263857.6	-	12	1982	c.1604C>T	c.(1603-1605)aCa>aTa	p.T535I	POLR1A_ENST00000409681.1_Missense_Mutation_p.T535I			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	535					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CACAATTTTTGTCCCCTGGGG	0.632													A	86302160	G	A	86302160	3	1	330	1	0	0	0	0	1	0	0	0	12286	1377	48	2	3650	2	POLR1A	2	86302160	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		86302160	156897213	5	21840											
SNRNP200	23020	broad.mit.edu	37	chr2	96956065	96956065	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaagcagtcctcccctaccTtggcattctggacatttcct	8	12	6	15	0	1	0	0	0	1	0	4	1	4	1	5	2	2	2	5	2	2	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:96956065T>C	ENST00000323853.5	-	20	2818	c.2741A>G	c.(2740-2742)aAg>aGg	p.K914R	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	914	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CTCCCCTACCTTGGCATTCTG	0.532													C	96956065	T	C	96956065	5	2	330	1	0	0	0	0	0	0	1	0	14946	1623	56	3	3773	3	SNRNP200	2	96956065	Splice_Site	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	10653905	96956065	146243308	6	21841											
TANC1	85461	broad.mit.edu	37	chr2	160075851	160075851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagggcacttgagcaccGtggaattcctcctttcaaaa	11	10	10	10	1	1	2	1	2	0	0	3	3	3	3	3	2	1	2	3	2	4	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:160075851G>A	ENST00000263635.6	+	21	3718	c.3481G>A	c.(3481-3483)Gtg>Atg	p.V1161M	TANC1_ENST00000454300.1_Missense_Mutation_p.V1055M	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1161						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CTTGAGCACCGTGGAATTCCT	0.522													A	160075851	G	A	160075851	3	1	330	1	0	0	0	0	1	0	0	0	15641	1145	40	1	3555	1	TANC1	2	160075851	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	63119786	160075851	83123522	7	21842											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	330	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	49037261	209113112	34086261	8	21843											
PIKFYVE	200576	broad.mit.edu	37	chr2	209169012	209169012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacagtgacacagaacagAtagctgaagaaggtgacgat	17	6	12	6	1	0	7	0	4	0	3	0	8	0	7	0	1	2	1	0	1	4	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr2:209169012A>G	ENST00000264380.4	+	11	1596	c.1438A>G	c.(1438-1440)Ata>Gta	p.I480V	PIKFYVE_ENST00000392202.3_Missense_Mutation_p.I383V|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.I480V|PIKFYVE_ENST00000308862.6_Missense_Mutation_p.I394V	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	480					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						CACAGAACAGATAGCTGAAGA	0.403													G	209169012	A	G	209169012	3	3	330	1	0	0	0	0	1	0	0	0	12001	333	12	3	1476	3	PIKFYVE	2	209169012	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08	55900	209169012	34030361	9	21844											
ZNF445	353274	broad.mit.edu	37	chr3	44496823	44496823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagagttcccggagccggctCagagtttctaggggccctga	7	8	14	12	2	2	3	1	1	1	2	3	4	3	4	3	4	1	3	3	4	1	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:44496823C>T	ENST00000425708.2	-	2	560	c.219G>A	c.(217-219)ctG>ctA	p.L73L	ZNF445_ENST00000396077.2_Silent_p.L73L			P59923	ZN445_HUMAN	zinc finger protein 445	73	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GGAGCCGGCTCAGAGTTTCTA	0.607													T	44496823	C	T	44496823	2	4	330	1	0	0	0	0	0	0	0	1	18019	813	29	2		2	ZNF445	3	44496823	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		44496823	153525607	10	21845											
FLNB	2317	broad.mit.edu	37	chr3	58111408	58111408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccatctagggtgcaagcCcaaggacctggattgaaaga	13	6	12	10	0	1	2	0	1	1	1	1	4	1	4	3	3	3	1	3	3	4	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:58111408C>T	ENST00000357272.4	+	23	4164	c.3999C>T	c.(3997-3999)gcC>gcT	p.A1333A	FLNB_ENST00000419752.2_Silent_p.A1164A|FLNB_ENST00000429972.2_Silent_p.A1333A|FLNB_ENST00000490882.1_Silent_p.A1333A|FLNB_ENST00000358537.3_Silent_p.A1333A|FLNB_ENST00000295956.4_Silent_p.A1333A|FLNB_ENST00000348383.5_Silent_p.A1333A|FLNB_ENST00000493452.1_Silent_p.A1164A			O75369	FLNB_HUMAN	filamin B, beta	1333	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GGGTGCAAGCCCAAGGACCTG	0.522													T	58111408	C	T	58111408	2	4	330	1	0	0	0	0	0	0	0	1	5983	610	22	2		2	FLNB	3	58111408	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	13614585	58111408	139911022	11	21846											
ZBTB20	26137	broad.mit.edu	37	chr3	114058203	114058203	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcctgtgtgtgtcacCatgtgcttgataaggtaatc	8	14	9	10	0	2	1	2	1	0	0	4	1	3	1	2	1	1	2	2	1	2	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:114058203C>G	ENST00000462705.1	-	12	2477	c.1656G>C	c.(1654-1656)atG>atC	p.M552I	ZBTB20_ENST00000471418.1_Missense_Mutation_p.M552I|ZBTB20_ENST00000357258.3_Missense_Mutation_p.M552I|ZBTB20_ENST00000464560.1_Missense_Mutation_p.M552I|ZBTB20_ENST00000393785.2_Missense_Mutation_p.M552I|ZBTB20_ENST00000474710.1_Missense_Mutation_p.M625I|ZBTB20_ENST00000481632.1_Missense_Mutation_p.M552I	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	625					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGTGTCACCATGTGCTTGA	0.537													G	114058203	C	G	114058203	3	3	330	1	0	0	0	0	1	0	0	0	17630	594	21	4	354	4	ZBTB20	3	114058203	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	55946795	114058203	83964227	12	21847											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	11	12	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	5	5			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178928079	G	A	178928079	3	1	330	1	0	0	0	0	1	0	0	0	11990	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	64869876	178928079	19094351	13	21848											
USP53	54532	broad.mit.edu	37	chr4	120192691	120192691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatggcactggatatgAcacagacagcagccaagatt	15	7	10	9	0	0	4	0	2	0	2	0	5	0	5	1	2	2	2	1	2	3	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr4:120192691A>G	ENST00000450251.1	+	12	2220	c.1676A>G	c.(1675-1677)gAc>gGc	p.D559G	USP53_ENST00000274030.6_Missense_Mutation_p.D559G			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	559					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						ACTGGATATGACACAGACAGC	0.423													G	120192691	A	G	120192691	3	3	330	1	0	0	0	0	1	0	0	0	17186	275	10	3	1722	3	USP53	4	120192691	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		120192691	70961585	14	21849											
TAS2R1	50834	broad.mit.edu	37	chr5	9630017	9630017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagaaggagatccagcGgagccatttttctgtgcttg	12	10	12	7	1	1	3	0	0	1	3	2	5	2	4	2	2	3	1	2	2	3	3	rs2234231	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:9630017G>A	ENST00000382492.2	-	1	446	c.128C>T	c.(127-129)cCg>cTg	p.P43L	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	43					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GAGATCCAGCGGAGCCATTTT	0.378													A	9630017	G	A	9630017	3	1	330	1	0	0	0	0	1	0	0	0	15662	1116	39	1	775	1	TAS2R1	5	9630017	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		9630017	171285243	15	21850											
PCDHGC5	56097	broad.mit.edu	37	chr5	140871058	140871058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtccagccccaacctgcagGtgagctcggacggcacgctc	8	5	12	16	3	0	1	0	1	0	0	3	2	1	2	4	3	4	4	4	3	1	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:140871058G>A	ENST00000252087.1	+	1	2251	c.2251G>A	c.(2251-2253)Gtg>Atg	p.V751M	PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		751					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCTGCAGGTGAGCTCGGA	0.652													A	140871058	G	A	140871058	3	1	330	1	0	0	0	0	1	0	0	0	11647	1261	44	2	2253	2	PCDHGC5	5	140871058	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	131241041	140871058	40044202	16	21851											
DOCK2	1794	broad.mit.edu	37	chr5	169435568	169435568	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgcagctggagcagtTctcacacgccaaatacaaca	12	9	7	13	1	2	0	1	0	2	0	4	1	2	1	1	1	5	4	1	1	3	3	rs145444170	byFrequency	TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr5:169435568T>C	ENST00000256935.8	+	31	3220	c.3140T>C	c.(3139-3141)tTc>tCc	p.F1047S	DOCK2_ENST00000540750.1_Missense_Mutation_p.F108S|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000520908.1_Missense_Mutation_p.F539S	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1047	Interaction with CRKL.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGGAGCAGTTCTCACACGCC	0.448													C	169435568	T	C	169435568	3	2	330	1	0	0	0	0	1	0	0	0	4726	1783	62	3	3262	3	DOCK2	5	169435568	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	28564510	169435568	11479692	17	21852											
NKAPL	222698	broad.mit.edu	37	chr6	28228314	28228314	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagattttagccagtttcCgagagatggtgcacaaaaag	14	10	11	6	1	0	2	0	0	0	2	1	4	1	2	2	1	2	3	2	1	4	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:28228314C>T	ENST00000343684.3	+	1	1217	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	389										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						AGCCAGTTTCCGAGAGATGGT	0.378													T	28228314	C	T	28228314	4	4	330	1	0	0	0	0	0	1	0	0	10516	644	23	1	1167	1	NKAPL	6	28228314	Nonsense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		28228314	142886753	18	21853											
ABCC10	89845	broad.mit.edu	37	chr6	43400788	43400788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtaacacttcaggcacgggGggctgtgctgaacatcctgt	8	9	14	10	1	1	1	1	1	0	0	2	1	2	1	1	5	3	4	1	5	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr6:43400788G>A	ENST00000244533.3	+	1	1300	c.941G>A	c.(940-942)gGg>gAg	p.G314E	ABCC10_ENST00000372530.4_Missense_Mutation_p.G357E|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	357	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CAGGCACGGGGGGCTGTGCTG	0.587													A	43400788	G	A	43400788	3	1	330	1	0	0	0	0	1	0	0	0	50	1232	43	2	943	2	ABCC10	6	43400788	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	15172474	43400788	127714279	19	21854											
MIOS	54468	broad.mit.edu	37	chr7	7625428	7625428	+	Frame_Shift_Del	DEL	G	G	-																															gtgaaacaggatcttacgatGgagttttggtaagctaactt																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:7625428delG	ENST00000340080.4	+	7	2231	c.1810delG	c.(1810-1812)ggafs	p.G604fs	MIOS_ENST00000405785.1_Frame_Shift_Del_p.G604fs	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	604										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ATCTTACGATGGAGTTTTGGT	0.328													-	7625428	G	-	7625428	7	5	330	1	0	1	0	1	0	0	0	0	9664	1349	47	0	1824	0	MIOS	7	7625428	Frame_Shift_Del	DEL	G	TCGA-DB-A64V-01A-11D-A29Q-08		7625428	151513235	20	21855											
SAMD9L	219285	broad.mit.edu	37	chr7	92763622	92763638	+	Frame_Shift_Del	DEL	TTTCCACTGAAGAGAGT	TTTCCACTGAAGAGAGT	-																															aatgagtggatctcctgggcTttccactgaagagagtaata																								rs137896260		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr7:92763622_92763638delTTTCCACTGAAGAGAGT	ENST00000318238.4	-	5	2863_2879	c.1647_1663delACTCTCTTCAGTGGAAA	c.(1645-1665)ttactctcttcagtggaaagcfs	p.LSSVES550fs	SAMD9L_ENST00000411955.1_Frame_Shift_Del_p.LSSVES550fs|SAMD9L_ENST00000437805.1_Frame_Shift_Del_p.LSSVES550fs	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	550								p.V553fs*10(1)		central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TCTCCTGGGCTTTCCACTGAAGAGAGTAATAGAAACA	0.35													-	92763638	TTTCCACTGAAGAGAGT	-	92763622	7	5	330	1	0	1	0	1	0	0	0	0	13918	1609	56	0	3095	0	SAMD9L	7	92763622	Frame_Shift_Del	DEL	TTTCCACTGAAGAGAGT	TCGA-DB-A64V-01A-11D-A29Q-08	85138194	92763622	66375041	21	21856											
CNGB3	54714	broad.mit.edu	37	chr8	87656896	87656896	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactctaggtgatgattaaAttcaaaaaatgaagtgtact	17	12	8	4	0	2	4	1	3	1	1	2	4	2	4	0	1	1	1	0	1	8	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr8:87656896A>G	ENST00000320005.5	-	9	1056	c.1009T>C	c.(1009-1011)Ttt>Ctt	p.F337L		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	337					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TGATGATTAAATTCAAAAAAT	0.274													G	87656896	A	G	87656896	3	3	330	1	0	0	0	0	1	0	0	0	3632	101	4	3	1460	3	CNGB3	8	87656896	Missense_Mutation	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		87656896	58707126	22	21857											
BICD2	23299	broad.mit.edu	37	chr9	95481529	95481529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcccttctcctcggcgtgCtgggcctcacgagcctcgtg	2	9	13	17	5	2	0	1	0	1	0	5	1	2	0	4	3	2	1	4	3	0	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr9:95481529C>T	ENST00000356884.6	-	5	1465	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	BICD2_ENST00000375512.3_Silent_p.Q466Q	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	466					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCTCGGCGTGCTGGGCCTCAC	0.667													T	95481529	C	T	95481529	2	4	330	1	0	0	0	0	0	0	0	1	1435	796	28	2		2	BICD2	9	95481529	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		95481529	45731902	23	21858											
TACR2	6865	broad.mit.edu	37	chr10	71175890	71175890	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttggtgactgtgcgcaTcctccgatgggccaggatga	7	10	15	9	2	0	2	0	2	0	0	2	4	2	3	3	3	1	3	3	3	1	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71175890T>A	ENST00000373306.4	-	1	733	c.190A>T	c.(190-192)Atg>Ttg	p.M64L		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	64					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	ACTGTGCGCATCCTCCGATGG	0.587													A	71175890	T	A	71175890	3	1	330	1	0	0	0	0	1	0	0	0	15603	1435	50	5	1026	5	TACR2	10	71175890	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08		71175890	64358857	24	21859											
NEUROG3	50674	broad.mit.edu	37	chr10	71332578	71332578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcttgctcagtgccaaCtcgctcttaggccggctgcg	4	10	12	15	4	2	0	1	0	1	0	3	0	2	0	2	2	5	5	2	2	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr10:71332578C>G	ENST00000242462.4	-	2	251	c.222G>C	c.(220-222)gaG>gaC	p.E74D		NM_020999.3	NP_066279.2	Q9Y4Z2	NGN3_HUMAN	neurogenin 3	74					central nervous system development|endocrine pancreas development|peripheral nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	transcription coactivator activity			endometrium(4)|large_intestine(2)|lung(6)|prostate(1)	13						TCAGTGCCAACTCGCTCTTAG	0.692													G	71332578	C	G	71332578	3	3	330	1	0	0	0	0	1	0	0	0	10430	564	20	4	426	4	NEUROG3	10	71332578	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08	156688	71332578	64202169	25	21860											
MUC6	4588	broad.mit.edu	37	chr11	1024966	1024966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcacgtccccgcacagcgGgctctccttccacgagttca	6	8	9	18	4	3	0	2	0	1	0	6	1	5	0	4	1	1	4	4	1	0	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr11:1024966G>A	ENST00000421673.2	-	24	3153	c.3103C>T	c.(3103-3105)Ccg>Tcg	p.P1035S		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1035	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCACAGCGGGCTCTCCTTC	0.617													A	1024966	G	A	1024966	3	1	330	1	0	0	0	0	1	0	0	0	10056	1232	43	2	4256	2	MUC6	11	1024966	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		1024966	133981550	26	21861											
ABCC9	10060	broad.mit.edu	37	chr12	22012589	22012589	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcctctgtcccccactCaggttgatgccctagagaag	7	10	9	15	0	3	2	1	1	2	1	4	3	4	2	4	1	2	1	4	1	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:22012589C>A	ENST00000261200.4	-	20	2435	c.2436G>T	c.(2434-2436)ctG>ctT	p.L812L	ABCC9_ENST00000261201.4_Silent_p.L812L|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.L776L	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	812	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCCCCCACTCAGGTTGATGC	0.383													A	22012589	C	A	22012589	2	1	330	1	0	0	0	0	0	0	0	1	59	813	29	4		4	ABCC9	12	22012589	Silent	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		22012589	111839306	27	21862											
SART3	9733	broad.mit.edu	37	chr12	108938934	108938934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgagcagcttccacaatcGcactttcaaactctcggtaa	11	9	6	15	3	2	0	1	0	1	0	5	1	3	0	2	1	3	4	2	1	3	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr12:108938934G>A	ENST00000228284.3	-	4	944	c.710C>T	c.(709-711)gCg>gTg	p.A237V	SART3_ENST00000431469.2_Missense_Mutation_p.A237V	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	237					RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TTCCACAATCGCACTTTCAAA	0.493									Porokeratosis				A	108938934	G	A	108938934	3	1	330	1	0	0	0	0	1	0	0	0	13939	1087	38	1	2245	1	SART3	12	108938934	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	86926345	108938934	24912961	28	21863											
LTBP2	4053	broad.mit.edu	37	chr14	74988686	74988686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaggagtaggaccccaCgcggttgatgcagcgccctt	9	6	14	12	3	0	1	0	1	0	0	0	4	0	3	3	3	3	4	3	3	2	3			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr14:74988686C>T	ENST00000261978.4	-	17	3102	c.2716G>A	c.(2716-2718)Gtg>Atg	p.V906M	LTBP2_ENST00000556690.1_Missense_Mutation_p.V906M	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	906	Cys-rich.|EGF-like 5; calcium-binding (Potential).				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		TAGGACCCCACGCGGTTGATG	0.632													T	74988686	C	T	74988686	3	4	330	1	0	0	0	0	1	0	0	0	9144	536	19	1	2829	1	LTBP2	14	74988686	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		74988686	32360854	29	21864											
ACTC1	70	broad.mit.edu	37	chr15	35086923	35086923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atggacgggaagacagcgcgGggcgcgtcatcgcccgcaaa	10	3	16	12	7	1	1	1	0	0	1	2	3	1	3	1	4	1	1	1	4	2	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:35086923G>A	ENST00000290378.4	-	2	742	c.87C>T	c.(85-87)ccC>ccT	p.P29P	RP11-814P5.1_ENST00000503496.1_RNA	NM_005159.4	NP_005150.1	P68032	ACTC_HUMAN	actin, alpha, cardiac muscle 1	29					apoptosis|cardiac muscle tissue morphogenesis|cardiac myofibril assembly|muscle filament sliding|skeletal muscle thin filament assembly	actomyosin, actin part|cytosol|I band	ATP binding|ATPase activity|myosin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	31		all_lung(180;2.3e-08)		all cancers(64;5.83e-19)|GBM - Glioblastoma multiforme(113;1.98e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		AGACAGCGCGGGGCGCGTCAT	0.682													A	35086923	G	A	35086923	2	1	330	1	0	0	0	0	0	0	0	1	195	1219	43	2		2	ACTC1	15	35086923	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		35086923	67444469	30	21865											
ADAMTS7	11173	broad.mit.edu	37	chr15	79092723	79092723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggttgaagcgcagctcGcgcccgcggtattgtagctc	6	9	14	12	5	1	1	1	1	0	0	3	1	1	1	1	2	3	6	1	2	3	4			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr15:79092723G>A	ENST00000388820.4	-	2	477	c.267C>T	c.(265-267)cgC>cgT	p.R89R	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	89					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						AGCGCAGCTCGCGCCCGCGGT	0.706													A	79092723	G	A	79092723	2	1	330	1	0	0	0	0	0	0	0	1	271	1074	38	1		1	ADAMTS7	15	79092723	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	44005800	79092723	23438669	31	21866											
C16orf11	146325	broad.mit.edu	37	chr16	614024	614024	+	Frame_Shift_Del	DEL	C	C	-																															cctcggccagccccctgctgCccccggccacggccttccca																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:614024delC	ENST00000409413.3	+	2	1009	c.730delC	c.(730-732)cccfs	p.P245fs		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	245	Pro-rich.									central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CCCCCTGCTGCCCCCGGCCAC	0.731													-	614024	C	-	614024	7	5	330	1	0	1	0	1	0	0	0	0	1824	739	26	0	732	0	C16orf11	16	614024	Frame_Shift_Del	DEL	C	TCGA-DB-A64V-01A-11D-A29Q-08		614024	89740729	32	21867											
SNX20	124460	broad.mit.edu	37	chr16	50707432	50707432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgaagtccttgcccagcGcgtaggccaggcggaccatg	8	6	13	14	4	1	0	1	0	0	0	2	2	2	1	4	3	2	1	4	3	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr16:50707432G>A	ENST00000330943.4	-	4	1007	c.836C>T	c.(835-837)gCg>gTg	p.A279V	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	279					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTGCCCAGCGCGTAGGCCAG	0.697													A	50707432	G	A	50707432	3	1	330	1	0	0	0	0	1	0	0	0	14986	1087	38	1	261	1	SNX20	16	50707432	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	50093408	50707432	39647321	33	21868											
GJC1	10052	broad.mit.edu	37	chr17	42882004	42882004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccgccaggattaaatccaGacggaggtcttcccatcccc	9	7	9	16	2	1	1	0	0	1	1	4	3	4	3	6	3	0	0	6	3	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr17:42882004G>A	ENST00000426548.1	-	3	1451	c.1182C>T	c.(1180-1182)gtC>gtT	p.V394V	GJC1_ENST00000590758.1_Silent_p.V394V|GJC1_ENST00000592524.1_Silent_p.V394V|GJC1_ENST00000330514.4_Silent_p.V394V	NM_001080383.1|NM_005497.3	NP_001073852.1|NP_005488.2	P36383	CXG1_HUMAN	gap junction protein, gamma 1, 45kDa	394					cellular membrane organization|gap junction assembly|muscle contraction|synaptic transmission|transport	connexon complex|integral to membrane				NS(1)|kidney(1)|large_intestine(5)|liver(1)|lung(10)|prostate(1)	19		Prostate(33;0.0959)				ATTAAATCCAGACGGAGGTCT	0.488													A	42882004	G	A	42882004	2	1	330	1	0	0	0	0	0	0	0	1	6470	929	33	2		2	GJC1	17	42882004	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		42882004	38313206	34	21869											
HAUS1	115106	broad.mit.edu	37	chr18	43700024	43700024	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtattagaaaaatgtctacaAgagtaagtaattgagttcag	17	12	9	3	0	2	3	1	1	1	2	2	3	2	3	0	0	1	4	0	0	8	7			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr18:43700024A>G	ENST00000282058.6	+	4	554	c.474A>G	c.(472-474)caA>caG	p.Q158Q	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	158					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AATGTCTACAAGAGTAAGTAA	0.294													G	43700024	A	G	43700024	2	3	330	1	0	0	0	0	0	0	0	1	7020	69	3	3		3	HAUS1	18	43700024	Silent	SNP	A	TCGA-DB-A64V-01A-11D-A29Q-08		43700024	34377224	35	21870											
NACC1	112939	broad.mit.edu	37	chr19	13248162	13248162	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcggcacaaggtcctactgCggcggctcctggcctccttc	4	8	12	17	4	0	0	0	0	0	0	4	0	3	0	4	5	2	2	4	5	2	2			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:13248162C>G	ENST00000292431.4	+	4	1324	c.1198C>G	c.(1198-1200)Cgg>Ggg	p.R400G		NM_052876.3	NP_443108.1	Q96RE7	NACC1_HUMAN	nucleus accumbens associated 1, BEN and BTB (POZ) domain containing	400	BEN.				negative regulation of transcription, DNA-dependent|positive regulation of cell proliferation|protein homooligomerization|transcription, DNA-dependent	cytoplasm|nuclear body				endometrium(3)|large_intestine(2)|lung(3)|skin(1)	9						GGTCCTACTGCGGCGGCTCCT	0.647													G	13248162	C	G	13248162	3	3	330	1	0	0	0	0	1	0	0	0	10211	759	27	4	1208	4	NACC1	19	13248162	Missense_Mutation	SNP	C	TCGA-DB-A64V-01A-11D-A29Q-08		13248162	45880821	36	21871											
CIC	23152	broad.mit.edu	37	chr19	42791802	42791802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccaggacaaccggaccGtcagcaagatcctgggcgag	12	3	12	14	3	1	1	1	0	0	1	2	4	2	3	5	3	3	1	5	3	3	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr19:42791802G>A	ENST00000572681.2	+	6	3483	c.3415G>A	c.(3415-3417)Gtc>Atc	p.V1139I	CIC_ENST00000575354.2_Missense_Mutation_p.V230I|CIC_ENST00000160740.3_Missense_Mutation_p.V230I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	230	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V230I(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAACCGGACCGTCAGCAAGAT	0.617			"Mis, F, S"		oligodendroglioma								A	42791802	G	A	42791802	3	1	330	1	0	0	0	0	1	0	0	0	3454	1145	40	1	706	1	CIC	19	42791802	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08	29543640	42791802	16337181	37	21872											
SLC24A3	57419	broad.mit.edu	37	chr20	19193520	19193522	+	In_Frame_Del	DEL	CGC	CGC	-																															gcgacgaggaccgcgcgcgtCgccgccgccgccgccgccgc																										TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:19193520_19193522delCGC	ENST00000328041.6	+	1	231_233	c.34_36delCGC	c.(34-36)cgcdel	p.R20del	RP11-97N19.2_ENST00000446849.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	20						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCGCGCGcgtcgccgccgccgcc	0.813													-	19193522	CGC	-	19193520	7	5	330	1	0	1	0	1	0	0	0	0	14561	884	31	0	36	0	SLC24A3	20	19193520	In_Frame_Del	DEL	CGC	TCGA-DB-A64V-01A-11D-A29Q-08		19193520	43832000	38	21873											
ATP9A	10079	broad.mit.edu	37	chr20	50312662	50312662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcctcaggaagatcaTgtcggcagggacccgctggt	8	9	14	10	2	2	2	2	1	0	1	4	4	3	4	2	4	0	2	2	4	1	0			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr20:50312662T>C	ENST00000338821.5	-	6	781	c.517A>G	c.(517-519)Atg>Gtg	p.M173V	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	173					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						AGGAAGATCATGTCGGCAGGG	0.448													C	50312662	T	C	50312662	3	2	330	1	0	0	0	0	1	0	0	0	1203	1464	51	3	2718	3	ATP9A	20	50312662	Missense_Mutation	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08	31119142	50312662	12712858	39	21874											
UBASH3A	53347	broad.mit.edu	37	chr21	43833168	43833168	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaatgcctgtacgaggcGctgaagagagctggagacag	11	6	17	7	2	0	3	0	1	0	2	0	7	0	4	1	3	3	3	1	3	3	1	rs141710800		TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr21:43833168G>A	ENST00000319294.6	+	4	421	c.390G>A	c.(388-390)gcG>gcA	p.A130A	UBASH3A_ENST00000398367.1_Silent_p.A130A|UBASH3A_ENST00000291535.6_Silent_p.A130A	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	130						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						TGTACGAGGCGCTGAAGAGAG	0.547													A	43833168	G	A	43833168	2	1	330	1	0	0	0	0	0	0	0	1	16941	1074	38	1		1	UBASH3A	21	43833168	Silent	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		43833168	4296727	40	21875											
EP300	2033	broad.mit.edu	37	chr22	41566476	41566476	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattatatcttccattgccaTcctcctgaccagaagatacc	11	12	5	13	0	1	3	0	1	1	2	4	4	4	3	6	0	2	0	6	0	4	5			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chr22:41566476T>C	ENST00000263253.7	+	27	5572	c.4353T>C	c.(4351-4353)caT>caC	p.H1451H	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1451					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCATTGCCATCCTCCTGACC	0.428			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				C	41566476	T	C	41566476	2	2	330	1	0	0	0	0	0	0	0	1	5189	1432	50	3		3	EP300	22	41566476	Silent	SNP	T	TCGA-DB-A64V-01A-11D-A29Q-08		41566476	9738090	41	21876											
BEND2	139105	broad.mit.edu	37	chrX	18183208	18183208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggggtcactgctggaagcGactgagacctggcttcagcc	8	7	15	11	1	2	1	2	1	0	1	2	5	2	2	2	4	3	2	2	4	1	1			TCGA-DB-A64V-01A-11D-A29Q-08	TCGA-DB-A64V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd199b2-da43-4864-a647-3c36b2034f00	4047e4fc-39cc-4c30-bec3-fc4dffdf607c	g.chrX:18183208G>A	ENST00000380033.4	-	14	2453	c.2321C>T	c.(2320-2322)tCg>tTg	p.S774L		NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	774								p.S774L(1)		NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						TGCTGGAAGCGACTGAGACCT	0.557													A	18183208	G	A	18183208	3	1	330	1	0	0	0	0	1	0	0	0	1403	1059	37	1	82	1	BEND2	23	18183208	Missense_Mutation	SNP	G	TCGA-DB-A64V-01A-11D-A29Q-08		18183208	137087352	42	21877											
RBMXL1	494115	broad.mit.edu	37	chr1	89448560	89448560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttccaccatatccatcaCgtgagctgctataatcatca	12	11	5	13	1	3	1	3	1	0	0	5	2	5	1	3	0	2	2	3	0	3	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:89448560C>T	ENST00000399794.2	-	3	1665	c.950G>A	c.(949-951)cGt>cAt	p.R317H	CCBL2_ENST00000370485.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000446900.2_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R317H|CCBL2_ENST00000370491.3_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	317	Ser-rich.						nucleotide binding|RNA binding										ATATCCATCACGTGAGCTGCT	0.498													T	89448560	C	T	89448560	3	4	331	1	0	0	0	0	1	0	0	0	13241	536	19	1	226	1	RBMXL1	1	89448560	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		89448560	159802061	1	21878											
DENND2D	79961	broad.mit.edu	37	chr1	111738675	111738675	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctccacttcatccaGgatctgcagggaaaagaacc	11	10	7	13	0	4	1	1	0	3	1	7	3	5	3	3	2	2	1	3	2	3	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:111738675G>C	ENST00000357640.4	-	6	737	c.508C>G	c.(508-510)Ctg>Gtg	p.L170V	DENND2D_ENST00000369752.5_Missense_Mutation_p.L167V|DENND2D_ENST00000473682.1_5'UTR	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	170	DENN.									breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		ACTTCATCCAGGATCTGCAGG	0.552													C	111738675	G	C	111738675	3	2	331	1	0	0	0	0	1	0	0	0	4470	991	35	4	935	4	DENND2D	1	111738675	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	22290115	111738675	137511946	2	21879											
OR6N2	81442	broad.mit.edu	37	chr1	158746704	158746704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcaagatgtgaggcaCaggtagaaaaggccttcttt	13	8	11	9	0	1	3	0	1	1	2	1	3	1	3	2	3	1	3	2	3	4	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:158746704C>T	ENST00000339258.1	-	1	721	c.722G>A	c.(721-723)tGt>tAt	p.C241Y		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					ATGTGAGGCACAGGTAGAAAA	0.433													T	158746704	C	T	158746704	3	4	331	1	0	0	0	0	1	0	0	0	11283	478	17	2	234	2	OR6N2	1	158746704	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	47008029	158746704	90503917	3	21880											
EPRS	2058	broad.mit.edu	37	chr1	220142262	220142262	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgcaaaggcttttagcTcccatggatggagcaccagg	10	8	14	9	0	0	0	0	0	0	0	1	3	1	3	2	5	3	4	2	5	2	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr1:220142262T>A	ENST00000366923.3	-	32	4694	c.4425A>T	c.(4423-4425)ggA>ggT	p.G1475G	EPRS_ENST00000468487.1_5'UTR	NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	1475	Prolyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	GGCTTTTAGCTCCCATGGATG	0.433													A	220142262	T	A	220142262	2	1	331	1	0	0	0	0	0	0	0	1	5232	1538	54	5		5	EPRS	1	220142262	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	61395558	220142262	29108359	4	21881											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	331	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		209113112	34086261	5	21882											
ALS2CL	259173	broad.mit.edu	37	chr3	46722851	46722851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaccccaaatccgtgccGcaggccctcctggaagtagc	10	5	11	15	2	0	0	0	0	0	0	2	2	2	2	6	3	2	2	6	3	4	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:46722851G>A	ENST00000318962.4	-	13	1404	c.1321C>T	c.(1321-1323)Cgg>Tgg	p.R441W	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441W	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AATCCGTGCCGCAGGCCCTCC	0.637													A	46722851	G	A	46722851	3	1	331	1	0	0	0	0	1	0	0	0	551	1086	38	1	1596	1	ALS2CL	3	46722851	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		46722851	151299579	6	21883											
COL8A1	1295	broad.mit.edu	37	chr3	99513494	99513494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcttcgggatgccaggtgCgccaggtgtaaaggggcctc	6	7	18	10	2	0	0	0	0	0	0	2	1	0	1	3	6	2	2	3	6	2	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:99513494C>T	ENST00000261037.3	+	5	1129	c.749C>T	c.(748-750)gCg>gTg	p.A250V	COL8A1_ENST00000273342.4_Missense_Mutation_p.A250V	NM_001850.4	NP_001841.2	P27658	CO8A1_HUMAN	collagen, type VIII, alpha 1	250	Triple-helical region (COL1).				angiogenesis|cell adhesion	basement membrane|collagen type VIII				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(15)|skin(5)|upper_aerodigestive_tract(1)	27						ATGCCAGGTGCGCCAGGTGTA	0.642													T	99513494	C	T	99513494	3	4	331	1	0	0	0	0	1	0	0	0	3736	768	27	1	755	1	COL8A1	3	99513494	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	52790643	99513494	98508936	7	21884											
ZBTB11	27107	broad.mit.edu	37	chr3	101373567	101373567	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagtacaatgatagcctcGaacctcaggctttggttggt	9	12	11	9	1	1	2	1	2	0	0	2	3	1	2	2	3	3	3	2	3	4	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:101373567G>A	ENST00000312938.4	-	8	2870	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	764					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGATAGCCTCGAACCTCAGGC	0.363													A	101373567	G	A	101373567	4	1	331	1	0	0	0	0	0	1	0	0	17625	1066	37	1	887	1	ZBTB11	3	101373567	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	1860073	101373567	96648863	8	21885											
ZBTB20	26137	broad.mit.edu	37	chr3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaggcgcatgtgcacgTtgagggagctcttctgggtg	5	10	19	7	2	2	1	0	1	2	0	2	3	2	3	0	5	2	4	0	5	0	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:114058129T>C	ENST00000462705.1	-	12	2551	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													C	114058129	T	C	114058129	3	2	331	1	0	0	0	0	1	0	0	0	17630	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	12684562	114058129	83964301	9	21886											
IGSF10	285313	broad.mit.edu	37	chr3	151162901	151162901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcttcttgaactggtttcTtatcaaagtcactcttcttt	7	20	5	9	0	6	1	2	1	4	0	6	1	6	1	0	1	2	2	0	1	3	7			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:151162901T>C	ENST00000282466.3	-	4	4867	c.4868A>G	c.(4867-4869)aAg>aGg	p.K1623R		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1623					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AACTGGTTTCTTATCAAAGTC	0.438													C	151162901	T	C	151162901	3	2	331	1	0	0	0	0	1	0	0	0	7655	1609	56	3	3063	3	IGSF10	3	151162901	Missense_Mutation	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	37104772	151162901	46859529	10	21887											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	331	1	0	0	0	0	1	0	0	0	11990	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	27773181	178936082	19086348	11	21888											
GPR98	84059	broad.mit.edu	37	chr5	89971261	89971261	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtcctgaggattaccAggtaatttactcagtccttt	10	15	7	9	0	2	1	2	1	0	0	4	2	4	2	3	2	2	1	3	2	3	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:89971261A>G	ENST00000405460.2	+	24	5408	c.5312A>G	c.(5311-5313)cAg>cGg	p.Q1771R	GPR98_ENST00000450321.2_3'UTR	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1771	Calx-beta 12.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GAGGATTACCAGGTAATTTAC	0.433													G	89971261	A	G	89971261	5	3	331	1	0	0	0	0	0	0	1	0	6776	202	7	3	5406	3	GPR98	5	89971261	Splice_Site	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08		89971261	90943999	12	21889											
ZCCHC10	54819	broad.mit.edu	37	chr5	132334445	132334446	+	Frame_Shift_Ins	INS	-	-	T																															tcatcagtgtcactgtcctcINStgaggaggaagaggtagatg																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:132334445_132334446insT	ENST00000324170.3	-	4	408_409	c.342_343insA	c.(340-345)tcagagfs	p.E115fs	ZCCHC10_ENST00000355372.2_Frame_Shift_Ins_p.E131fs|ZCCHC10_ENST00000513848.1_Frame_Shift_Ins_p.E101fs|ZCCHC10_ENST00000513541.1_3'UTR|ZCCHC10_ENST00000509008.1_3'UTR|ZCCHC10_ENST00000508080.1_5'UTR|ZCCHC10_ENST00000509437.1_Frame_Shift_Ins_p.E137fs	NM_017665.1	NP_060135.1	Q8TBK6	ZCH10_HUMAN	zinc finger, CCHC domain containing 10	137	Ser-rich.						nucleic acid binding|zinc ion binding			skin(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCACTGTCCTCTGAGGAGGAAG	0.48													T	132334446	-	T	132334445	7	5	331	1	0	1	1	0	0	0	0	0	17680	922	32	0	173	0	ZCCHC10	5	132334445	Frame_Shift_Ins	INS	-	TCGA-DB-A64W-01A-11D-A29Q-08	42363184	132334445	48580815	13	21890											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857769	140857769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaccttttatctacttCtttctctaatcctggtttct	6	21	2	12	0	5	0	1	0	5	0	8	0	6	0	2	1	1	1	2	1	3	7			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr5:140857769C>A	ENST00000308177.3	+	1	2190	c.2086C>A	c.(2086-2088)Ctt>Att	p.L696I	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTACTTCTTTCTCTAAT	0.488											OREG0016865	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140857769	C	A	140857769	3	1	331	1	0	0	0	0	1	0	0	0	11645	913	32	4	2088	4	PCDHGC3	5	140857769	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	8523324	140857769	40057491	14	21891											
ZNF292	23036	broad.mit.edu	37	chr6	87964502	87964503	+	Frame_Shift_Ins	INS	-	-	A																															tgcctgatgatctggaagttINSaaacgtgcttgtcaactgag																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:87964502_87964503insA	ENST00000369577.3	+	8	1198_1199	c.1155_1156insA	c.(1156-1158)aaafs	p.K386fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.K381fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	386					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATCTGGAAGTTAAACGTGCTTG	0.376													A	87964503	-	A	87964502	7	5	331	1	0	1	1	0	0	0	0	0	17927	1741	61	0	1185	0	ZNF292	6	87964502	Frame_Shift_Ins	INS	-	TCGA-DB-A64W-01A-11D-A29Q-08		87964502	83150565	15	21892											
EZR	7430	broad.mit.edu	37	chr6	159188410	159188410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagcccgtgggctctgcGccctcatcctgcaagctctc	4	10	10	17	2	3	0	1	0	2	0	5	0	4	0	3	1	4	4	3	1	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr6:159188410G>A	ENST00000367075.3	-	13	1647	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	EZR_ENST00000392177.4_Silent_p.G461G|EZR_ENST00000337147.7_Silent_p.G493G	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	493	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		TGGGCTCTGCGCCCTCATCCT	0.642			T	ROS1	NSCLC								A	159188410	G	A	159188410	2	1	331	1	0	0	0	0	0	0	0	1	5377	1074	38	1		1	EZR	6	159188410	Silent	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	71223908	159188410	11926657	16	21893											
TNRC18	84629	broad.mit.edu	37	chr7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-																															gcgacgacgagcctttggccGgggcgcccgaggagtggccg																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:5428871delG	ENST00000399537.4	-	5	932	c.584delC	c.(583-585)ccgfs	p.P195fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	195							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTTGGCCGGGGCGCCCGA	0.776													-	5428871	G	-	5428871	7	5	331	1	0	1	0	1	0	0	0	0	16439	1116	39	0	8426	0	TNRC18	7	5428871	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08		5428871	153709792	17	21894											
AGR3	155465	broad.mit.edu	37	chr7	16918142	16918142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattacagcacctcttgagAgtgtctgaggaggcctcttt	9	12	11	9	0	3	3	0	2	3	2	3	5	3	4	2	2	2	1	2	2	1	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:16918142A>G	ENST00000310398.2	-	2	171	c.101T>C	c.(100-102)cTc>cCc	p.L34P	AGR3_ENST00000402239.3_Missense_Mutation_p.L34P	NM_176813.3	NP_789783.1	Q8TD06	AGR3_HUMAN	anterior gradient 3	34						extracellular region				central_nervous_system(1)|kidney(8)|lung(2)|skin(1)|stomach(1)	13	Lung NSC(10;0.0376)|all_lung(11;0.0721)|all_epithelial(12;0.202)			UCEC - Uterine corpus endometrioid carcinoma (126;0.184)		ACCTCTTGAGAGTGTCTGAGG	0.383													G	16918142	A	G	16918142	3	3	331	1	0	0	0	0	1	0	0	0	396	304	11	3	427	3	AGR3	7	16918142	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	11489271	16918142	142220521	18	21895											
SKAP2	8935	broad.mit.edu	37	chr7	26729921	26729921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaggtgtgatggacaCtatcctgactcatcttcctt	8	14	8	11	0	2	3	1	3	1	0	4	4	4	4	3	2	1	0	3	2	2	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:26729921C>T	ENST00000345317.2	-	10	1170	c.857G>A	c.(856-858)aGt>aAt	p.S286N	SKAP2_ENST00000539623.1_Missense_Mutation_p.S114N	NM_003930.3	NP_003921.2	O75563	SKAP2_HUMAN	src kinase associated phosphoprotein 2	286					B cell activation|cell junction assembly|protein complex assembly|signal transduction	cytosol|plasma membrane	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|skin(3)	17						GTGATGGACACTATCCTGACT	0.378													T	26729921	C	T	26729921	3	4	331	1	0	0	0	0	1	0	0	0	14450	565	20	2	234	2	SKAP2	7	26729921	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	9811779	26729921	132408742	19	21896											
HECW1	23072	broad.mit.edu	37	chr7	43483866	43483866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgagtcagcccaaattcaGgacagccccatgaacaacct	13	6	7	15	0	2	2	2	2	0	0	2	3	2	3	5	1	4	0	5	1	3	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:43483866G>A	ENST00000395891.2	+	11	1700	c.1095G>A	c.(1093-1095)caG>caA	p.Q365Q	HECW1_ENST00000453890.1_Silent_p.Q365Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						CCCAAATTCAGGACAGCCCCA	0.532													A	43483866	G	A	43483866	2	1	331	1	0	0	0	0	0	0	0	1	7097	991	35	2		2	HECW1	7	43483866	Silent	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	16753945	43483866	115654797	20	21897											
DOCK4	9732	broad.mit.edu	37	chr7	111512564	111512564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatttcttttaatttagagaGacagccagtgatcttgtctg	11	16	8	6	0	3	3	0	1	3	2	3	4	3	3	1	0	1	0	1	0	3	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr7:111512564G>A	ENST00000428084.1	-	18	2073	c.1801C>T	c.(1801-1803)Ctc>Ttc	p.L601F	DOCK4_ENST00000437633.1_Missense_Mutation_p.L601F|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	601	DHR-1.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				AATTTAGAGAGACAGCCAGTG	0.328													A	111512564	G	A	111512564	3	1	331	1	0	0	0	0	1	0	0	0	4728	942	33	2	4239	2	DOCK4	7	111512564	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	68028698	111512564	47626099	21	21898											
MCPH1	79648	broad.mit.edu	37	chr8	6301937	6301937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatactttgctggtggcttaCactcatcttttgatgatctt	8	18	7	8	0	3	2	1	2	2	0	3	2	3	2	0	2	3	2	0	2	3	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr8:6301937C>T	ENST00000344683.5	+	8	770	c.694C>T	c.(694-696)Cac>Tac	p.H232Y	MCPH1_ENST00000522905.1_Missense_Mutation_p.H184Y|MCPH1_ENST00000519480.1_Missense_Mutation_p.H232Y	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	232						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		TGGTGGCTTACACTCATCTTT	0.338													T	6301937	C	T	6301937	3	4	331	1	0	0	0	0	1	0	0	0	9473	478	17	2	724	2	MCPH1	8	6301937	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		6301937	140062085	22	21899											
WNK2	65268	broad.mit.edu	37	chr9	96018613	96018613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggctctgtcccggccccCgcctgccctccgtccctcca	1	8	10	22	3	1	0	0	0	1	0	5	0	5	0	8	2	1	1	8	2	0	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:96018613C>T	ENST00000297954.4	+	9	2067	c.2067C>T	c.(2065-2067)ccC>ccT	p.P689P	WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Silent_p.P301P|WNK2_ENST00000395477.2_Silent_p.P689P|WNK2_ENST00000427277.2_Silent_p.P301P|WNK2_ENST00000395475.2_Intron	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	689					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TCCCGGCCCCCGCCTGCCCTC	0.751													T	96018613	C	T	96018613	2	4	331	1	0	0	0	0	0	0	0	1	17480	639	23	1		1	WNK2	9	96018613	Silent	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		96018613	45194818	23	21900											
AGPAT2	10555	broad.mit.edu	37	chr9	139571516	139571516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccgaggtacatgatgaggCccacgggccccaggaagagc	10	3	14	14	2	0	3	0	2	0	1	0	5	0	4	5	4	2	1	5	4	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr9:139571516C>T	ENST00000371696.2	-	3	454	c.389G>A	c.(388-390)gGc>gAc	p.G130D	AGPAT2_ENST00000538402.1_Missense_Mutation_p.G130D|AGPAT2_ENST00000371694.3_Missense_Mutation_p.G130D	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	130					phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		CATGATGAGGCCCACGGGCCC	0.637													T	139571516	C	T	139571516	3	4	331	1	0	0	0	0	1	0	0	0	387	739	26	2	463	2	AGPAT2	9	139571516	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	43552903	139571516	1641915	24	21901											
ADARB2	105	broad.mit.edu	37	chr10	1405304	1405304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgcagtgcggcctgCgcggcctgaccccgggccag	4	5	15	17	4	0	1	0	1	0	0	1	1	1	1	6	3	4	2	6	3	0	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:1405304C>T	ENST00000381312.1	-	3	1321	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	332	DRBM 2.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTGCGGCCTGCGCGGCCTGAC	0.746													T	1405304	C	T	1405304	2	4	331	1	0	0	0	0	0	0	0	1	283	755	27	1		1	ADARB2	10	1405304	Silent	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		1405304	134129443	25	21902											
PRF1	5551	broad.mit.edu	37	chr10	72358832	72358832	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggtgccgtagttggagatAagcctgaggtaggcgggctg	7	9	19	6	2	0	2	0	1	0	1	0	3	0	2	2	5	2	4	2	5	3	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:72358832A>C	ENST00000441259.1	-	3	805	c.645T>G	c.(643-645)ctT>ctG	p.L215L	PRF1_ENST00000373209.2_Silent_p.L215L	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	215	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						AGTTGGAGATAAGCCTGAGGT	0.662			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				C	72358832	A	C	72358832	2	2	331	1	0	0	0	0	0	0	0	1	12564	349	13	5		5	PRF1	10	72358832	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	70953528	72358832	63175915	26	21903											
PDE6C	5146	broad.mit.edu	37	chr10	95425134	95425134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctgaagattcaggaGgtggtgatgacaaaaagtcc	13	9	13	6	0	1	4	1	3	0	1	2	5	2	5	1	3	2	2	1	3	4	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr10:95425134G>A	ENST00000371447.3	+	22	2674	c.2536G>A	c.(2536-2538)Ggt>Agt	p.G846S	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	846					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AGATTCAGGAGGTGGTGATGA	0.313													A	95425134	G	A	95425134	3	1	331	1	0	0	0	0	1	0	0	0	11723	1000	35	2	2622	2	PDE6C	10	95425134	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	23066302	95425134	40109613	27	21904											
OR52B4	143496	broad.mit.edu	37	chr11	4388941	4388941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccataccaaatgtttatTcgaatgtcattacatgcata	15	13	4	9	1	1	0	1	0	0	0	2	1	1	0	2	0	4	2	2	0	7	6			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:4388941T>C	ENST00000408920.2	-	1	675	c.585A>G	c.(583-585)cgA>cgG	p.R195R		NM_001005161.3	NP_001005161.2	Q8NGK2	O52B4_HUMAN	olfactory receptor, family 52, subfamily B, member 4	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(15)|skin(2)	31		Medulloblastoma(188;0.0075)|Breast(177;0.0249)|all_neural(188;0.0577)		Epithelial(150;1.57e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0826)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAATGTTTATTCGAATGTCAT	0.343													C	4388941	T	C	4388941	2	2	331	1	0	0	0	0	0	0	0	1	11188	1770	62	3		3	OR52B4	11	4388941	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08		4388941	130617575	28	21905											
USP35	57558	broad.mit.edu	37	chr11	77907849	77907849	+	Frame_Shift_Del	DEL	G	G	-																															gaaggcgaggagggcgccgtGgagttcctagagcaggccca																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr11:77907849delG	ENST00000529308.1	+	2	819	c.558delG	c.(556-558)gtgfs	p.V186fs	USP35_ENST00000530535.1_Intron|USP35_ENST00000441408.2_5'UTR|USP35_ENST00000530267.1_Intron	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	186					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			AGGGCGCCGTGGAGTTCCTAG	0.711													-	77907849	G	-	77907849	7	5	331	1	0	1	0	1	0	0	0	0	17168	1335	47	0	560	0	USP35	11	77907849	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08	73518908	77907849	57098667	29	21906											
C12orf40	283461	broad.mit.edu	37	chr12	40041653	40041653	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaaatagagaactgCagtttcactccatcatcttt	13	13	5	10	0	4	1	3	0	1	1	5	2	5	1	1	0	3	3	1	0	4	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:40041653C>A	ENST00000324616.5	+	6	598	c.444C>A	c.(442-444)tgC>tgA	p.C148*	C12orf40_ENST00000398716.1_Nonsense_Mutation_p.C71*|C12orf40_ENST00000405531.3_Nonsense_Mutation_p.C148*	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	148										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TAGAGAACTGCAGTTTCACTC	0.353													A	40041653	C	A	40041653	4	1	331	1	0	0	0	0	0	1	0	0	1699	718	25	4	466	4	C12orf40	12	40041653	Nonsense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		40041653	93810242	30	21907											
SDS	10993	broad.mit.edu	37	chr12	113830761	113830761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcctcacttgggcaacctAtttgtcatgcccagctgttc	6	13	8	14	1	2	0	2	0	0	0	4	0	3	0	3	1	3	3	3	1	2	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr12:113830761A>G	ENST00000257549.4	-	8	1094	c.972T>C	c.(970-972)aaT>aaC	p.N324N		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	324					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TGGGCAACCTATTTGTCATGC	0.617													G	113830761	A	G	113830761	2	3	331	1	0	0	0	0	0	0	0	1	14068	446	16	3		3	SDS	12	113830761	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	73789108	113830761	20021134	31	21908											
KLF5	688	broad.mit.edu	37	chr13	73636332	73636332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcagctcacaccagaccGcagctccagaggtgaacaat	13	7	8	13	1	2	3	2	1	0	2	3	3	3	3	3	1	3	3	3	1	3	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr13:73636332G>A	ENST00000377687.4	+	2	1131	c.595G>A	c.(595-597)Gca>Aca	p.A199T	KLF5_ENST00000539231.1_Missense_Mutation_p.A108T|KLF5_ENST00000477333.1_3'UTR	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	199					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		ACACCAGACCGCAGCTCCAGA	0.532													A	73636332	G	A	73636332	3	1	331	1	0	0	0	0	1	0	0	0	8407	1087	38	1	601	1	KLF5	13	73636332	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		73636332	41533546	32	21909											
CLEC14A	161198	broad.mit.edu	37	chr14	38723787	38723787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagccaagaggggactccgCcagcaaggcaccctctgctc	10	4	12	15	1	1	2	0	0	1	2	3	3	2	3	4	3	3	3	4	3	2	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr14:38723787C>T	ENST00000342213.2	-	1	1787	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	481						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GGGGACTCCGCCAGCAAGGCA	0.547													T	38723787	C	T	38723787	3	4	331	1	0	0	0	0	1	0	0	0	3530	739	26	2	35	2	CLEC14A	14	38723787	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		38723787	68625753	33	21910											
TELO2	9894	broad.mit.edu	37	chr16	1557703	1557703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagctgctggaagcccGgtcctggctggcgggtgagt	5	7	19	10	3	0	1	0	1	0	0	1	4	1	3	2	6	3	3	2	6	1	0			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:1557703G>A	ENST00000262319.6	+	20	2672	c.2393G>A	c.(2392-2394)cGg>cAg	p.R798Q		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	798						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CTGGAAGCCCGGTCCTGGCTG	0.647													A	1557703	G	A	1557703	3	1	331	1	0	0	0	0	1	0	0	0	15857	1116	39	1	2467	1	TELO2	16	1557703	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		1557703	88797050	34	21911											
PDILT	204474	broad.mit.edu	37	chr16	20387485	20387485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttctggctaatttgtcGtctcaaccaaacgactaagg	10	13	8	10	2	2	0	1	0	2	0	4	1	2	0	1	2	3	2	1	2	4	4	rs139247719		TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:20387485G>A	ENST00000302451.4	-	4	696	c.448C>T	c.(448-450)Cga>Tga	p.R150*		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	150					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CTAATTTGTCGTCTCAACCAA	0.463													A	20387485	G	A	20387485	4	1	331	1	0	0	0	0	0	1	0	0	11750	1153	40	1	1342	1	PDILT	16	20387485	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	18829782	20387485	69967268	35	21912											
ATXN2L	11273	broad.mit.edu	37	chr16	28847394	28847394	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagagtggggtgcctgcActctcagcttccacaccctc	6	8	9	18	0	1	1	1	0	1	1	4	1	2	1	5	2	3	2	5	2	0	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:28847394A>G	ENST00000336783.4	+	22	3203	c.3036A>G	c.(3034-3036)gcA>gcG	p.A1012A	ATXN2L_ENST00000570200.1_Silent_p.A1012A|ATXN2L_ENST00000325215.6_Silent_p.A1012A|ATXN2L_ENST00000564304.1_Silent_p.A1018A|ATXN2L_ENST00000382686.4_Silent_p.A1012A|ATXN2L_ENST00000395547.2_Silent_p.A1012A|ATXN2L_ENST00000340394.8_Silent_p.A1012A|RP11-24N18.1_ENST00000563565.1_RNA	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	1012						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						GGGTGCCTGCACTCTCAGCTT	0.687													G	28847394	A	G	28847394	2	3	331	1	0	0	0	0	0	0	0	1	1217	146	6	3		3	ATXN2L	16	28847394	Silent	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	8459909	28847394	61507359	36	21913											
SEZ6L2	26470	broad.mit.edu	37	chr16	29888271	29888271	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtcgttcctcgggaccTctgcaggggagggaaggcga	7	7	17	10	4	1	0	0	0	1	0	4	4	2	3	2	5	1	2	2	5	1	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:29888271T>G	ENST00000308713.5	-	12	2437	c.1910A>C	c.(1909-1911)gAg>gCg	p.E637A	SEZ6L2_ENST00000537485.1_Splice_Site_p.E593A|SEZ6L2_ENST00000350527.3_Splice_Site_p.E567A|SEZ6L2_ENST00000346932.5_Splice_Site_p.E523A	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	637	CUB 3.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCTCGGGACCTCTGCAGGGGA	0.667													G	29888271	T	G	29888271	5	3	331	1	0	0	0	0	0	0	1	0	14237	1565	54	5	889	5	SEZ6L2	16	29888271	Splice_Site	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	1040877	29888271	60466482	37	21914											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67859118	67859118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcctgtaagatcctcatcGcagacctgaatgagctgcgg	10	9	11	11	2	1	4	1	2	0	2	3	4	2	4	3	1	3	3	3	1	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr16:67859118G>A	ENST00000388833.3	+	7	972	c.595G>A	c.(595-597)Gca>Aca	p.A199T	TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.A184T|TSNAXIP1_ENST00000562321.1_3'UTR|TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.A253T	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	199					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		GATCCTCATCGCAGACCTGAA	0.542													A	67859118	G	A	67859118	3	1	331	1	0	0	0	0	1	0	0	0	16733	1087	38	1	613	1	TSNAXIP1	16	67859118	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	37970847	67859118	22495635	38	21915											
NEURL4	84461	broad.mit.edu	37	chr17	7231068	7231068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcctccaacacagagcGtccatctctcagcacagagc	12	7	6	16	1	2	2	1	0	1	2	6	2	5	2	3	0	5	1	3	0	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:7231068G>A	ENST00000399464.2	-	2	433	c.418C>T	c.(418-420)Cgc>Tgc	p.R140C	NEURL4_ENST00000315614.7_Missense_Mutation_p.R140C|NEURL4_ENST00000570460.1_Missense_Mutation_p.R140C	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACACAGAGCGTCCATCTCTC	0.642													A	7231068	G	A	7231068	3	1	331	1	0	0	0	0	1	0	0	0	10423	1145	40	1	4382	1	NEURL4	17	7231068	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		7231068	73964142	39	21916											
PRKAR1A	5573	broad.mit.edu	37	chr17	66526499	66526499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtgcgttaagctggaccGacctagatttgaacgtgttc	10	11	12	8	3	0	2	0	1	0	1	1	5	0	3	2	1	3	3	2	1	4	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr17:66526499G>A	ENST00000589228.1	+	11	1183	c.1055G>A	c.(1054-1056)cGa>cAa	p.R352Q	PRKAR1A_ENST00000586397.1_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000588188.2_Intron|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.R352Q|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.R352Q	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	352					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					AAGCTGGACCGACCTAGATTT	0.488			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				A	66526499	G	A	66526499	3	1	331	1	0	0	0	0	1	0	0	0	12589	1058	37	1	1093	1	PRKAR1A	17	66526499	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	59295431	66526499	14668711	40	21917											
SMCHD1	23347	broad.mit.edu	37	chr18	2732375	2732375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaattcagatcaaacAtcaggatgaggttaattgga	17	9	10	5	0	3	2	3	1	0	1	3	4	3	4	0	4	1	2	0	4	4	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr18:2732375A>G	ENST00000320876.6	+	25	3499	c.3161A>G	c.(3160-3162)cAt>cGt	p.H1054R	RP11-703M24.5_ENST00000583546.1_RNA|SMCHD1_ENST00000261598.8_Missense_Mutation_p.H1054R	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1054					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						CAGATCAAACATCAGGATGAG	0.363													G	2732375	A	G	2732375	3	3	331	1	0	0	0	0	1	0	0	0	14882	217	8	3	3259	3	SMCHD1	18	2732375	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08		2732375	75344873	41	21918											
CIC	23152	broad.mit.edu	37	chr19	42791817	42791817	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaccgtcagcaagatcctgGgcgagtggtggtatgccctg	7	8	16	10	2	1	1	1	0	0	1	2	3	2	2	3	4	2	2	3	4	2	1			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr19:42791817G>T	ENST00000572681.2	+	6	3498	c.3430G>T	c.(3430-3432)Ggc>Tgc	p.G1144C	CIC_ENST00000160740.3_Missense_Mutation_p.G235C|CIC_ENST00000575354.2_Missense_Mutation_p.G235C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	235	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGATCCTGGGCGAGTGGTG	0.612			"Mis, F, S"		oligodendroglioma								T	42791817	G	T	42791817	3	4	331	1	0	0	0	0	1	0	0	0	3454	1232	43	4	721	4	CIC	19	42791817	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		42791817	16337166	42	21919											
MMP9	4318	broad.mit.edu	37	chr20	44641108	44641108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcatgagttcggccacgCgctgggcttagatcattcct	6	10	13	12	4	1	2	1	1	0	1	3	2	2	2	2	3	0	4	2	3	1	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chr20:44641108C>T	ENST00000372330.3	+	8	1236	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	406					collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	TTCGGCCACGCGCTGGGCTTA	0.637													T	44641108	C	T	44641108	3	4	331	1	0	0	0	0	1	0	0	0	9745	768	27	1	1247	1	MMP9	20	44641108	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08		44641108	18384412	43	21920											
ASMTL	8623	broad.mit.edu	37	chrX	1551213	1551213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagctcctcggacagctccGagaacttcaccttcgtttcc	7	10	8	16	3	1	1	1	0	0	1	6	3	4	2	4	1	3	4	4	1	1	3			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:1551213G>A	ENST00000534940.1	-	6	509	c.284C>T	c.(283-285)tCg>tTg	p.S95L	ASMTL_ENST00000463763.1_5'UTR|ASMTL_ENST00000381333.4_Missense_Mutation_p.S137L|ASMTL_ENST00000381317.3_Missense_Mutation_p.S153L|ASMTL_ENST00000416733.2_Missense_Mutation_p.S77L	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	153	MAF-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGACAGCTCCGAGAACTTCAC	0.637													A	1551213	G	A	1551213	3	1	331	1	0	0	0	0	1	0	0	0	1051	1059	37	1	1439	1	ASMTL	23	1551213	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08		1551213	153719347	44	21921											
NHS	4810	broad.mit.edu	37	chrX	17744930	17744930	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacacgccttctcgaatgGaaaacgccaatcttcccacc	12	7	5	17	3	2	0	0	0	2	0	4	2	3	1	5	1	2	0	5	1	5	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:17744930G>T	ENST00000380060.3	+	6	2979	c.2641G>T	c.(2641-2643)Gaa>Taa	p.E881*	NHS_ENST00000398097.3_Nonsense_Mutation_p.E725*	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	881						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					TTCTCGAATGGAAAACGCCAA	0.468													T	17744930	G	T	17744930	4	4	331	1	0	0	0	0	0	1	0	0	10487	1175	41	4	2768	4	NHS	23	17744930	Nonsense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	16193717	17744930	137525630	45	21922											
GK	2710	broad.mit.edu	37	chrX	30739086	30739086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgccgtcacgatggagcGgtttgaacctcagattaatg	9	11	12	9	3	3	2	2	1	1	1	3	4	3	3	2	2	3	1	2	2	2	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:30739086G>A	ENST00000378943.3	+	17	1636	c.1457G>A	c.(1456-1458)cGg>cAg	p.R486Q	GK-AS1_ENST00000464659.1_RNA|RP11-242C19.2_ENST00000497961.1_RNA|GK_ENST00000378945.3_Missense_Mutation_p.R486Q|GK_ENST00000427190.1_Missense_Mutation_p.R287Q|GK_ENST00000378946.3_Missense_Mutation_p.R492Q	NM_001128127.2	NP_001121599.1	P32189	GLPK_HUMAN	glycerol kinase	492					glycerol-3-phosphate metabolic process|triglyceride biosynthetic process	cytosol|mitochondrial outer membrane	ATP binding|glycerol kinase activity			central_nervous_system(1)|large_intestine(3)	4						ACGATGGAGCGGTTTGAACCT	0.502													A	30739086	G	A	30739086	3	1	331	1	0	0	0	0	1	0	0	0	6476	1116	39	1	1545	1	GK	23	30739086	Missense_Mutation	SNP	G	TCGA-DB-A64W-01A-11D-A29Q-08	12994156	30739086	124531474	46	21923											
BCOR	54880	broad.mit.edu	37	chrX	39930292	39930292	+	Frame_Shift_Del	DEL	G	G	-																															cgactttggctttttgtcctGatttcctttcaacctttccc																										TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:39930292delG	ENST00000342274.4	-	6	3534	c.3172delC	c.(3172-3174)cagfs	p.Q1058fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.Q1040fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.Q1058fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.Q1058fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1058					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TTTTTGTCCTGATTTCCTTTC	0.493			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39930292	G	-	39930292	7	5	331	1	0	1	0	1	0	0	0	0	1391	1299	45	0	2135	0	BCOR	23	39930292	Frame_Shift_Del	DEL	G	TCGA-DB-A64W-01A-11D-A29Q-08	9191206	39930292	115340268	47	21924											
TRO	7216	broad.mit.edu	37	chrX	54957391	54957391	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggtggtggaccgagcAccagtgctggctttggcagt	5	11	16	9	1	0	0	0	0	0	0	0	2	0	1	2	5	2	5	2	5	0	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:54957391A>T	ENST00000173898.7	+	12	4346	c.4234A>T	c.(4234-4236)Acc>Tcc	p.T1412S	TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.T943S|TRO_ENST00000375041.2_Missense_Mutation_p.T1015S|TRO_ENST00000319167.8_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	1412	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						TGGACCGAGCACCAGTGCTGG	0.587													T	54957391	A	T	54957391	3	4	331	1	0	0	0	0	1	0	0	0	16675	159	6	5	4276	5	TRO	23	54957391	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	15027099	54957391	100313169	48	21925											
USP26	83844	broad.mit.edu	37	chrX	132159579	132159579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttctcttttcaacatctcTtcaaagatctcattatgcat	10	18	2	11	0	6	1	3	0	4	1	9	1	6	1	0	0	2	1	0	0	3	5			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:132159579T>C	ENST00000511190.1	-	6	3139	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	USP26_ENST00000406273.1_Silent_p.E890E|USP26_ENST00000370832.1_Silent_p.E890E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	890					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCAACATCTCTTCAAAGATCT	0.458													C	132159579	T	C	132159579	2	2	331	1	0	0	0	0	0	0	0	1	17159	1606	56	3		3	USP26	23	132159579	Silent	SNP	T	TCGA-DB-A64W-01A-11D-A29Q-08	77202188	132159579	23110981	49	21926											
GPR112	139378	broad.mit.edu	37	chrX	135405392	135405392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaggttaaaagcatgatgCgtagctttcctggcagcttg	9	11	13	8	2	0	1	0	1	0	0	1	2	1	1	1	2	4	6	1	2	3	4			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:135405392C>T	ENST00000394143.1	+	5	817	c.526C>T	c.(526-528)Cgt>Tgt	p.R176C	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.R176C|GPR112_ENST00000287534.4_Missense_Mutation_p.R113C|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	176					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R176S(2)		NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AAGCATGATGCGTAGCTTTCC	0.448													T	135405392	C	T	135405392	3	4	331	1	0	0	0	0	1	0	0	0	6683	768	27	1	532	1	GPR112	23	135405392	Missense_Mutation	SNP	C	TCGA-DB-A64W-01A-11D-A29Q-08	3245813	135405392	19865168	50	21927											
AFF2	2334	broad.mit.edu	37	chrX	148068962	148068962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcaatggggaactgtaacaAtggcccagtcaccattcccc	11	7	9	14	1	1	0	1	0	0	0	2	1	2	1	4	3	2	2	4	3	4	2			TCGA-DB-A64W-01A-11D-A29Q-08	TCGA-DB-A64W-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e7f9bb4-37b2-4e68-8a34-a2388eac7ba0	5bb15587-a86c-4da2-be1d-7b1fa9f105a8	g.chrX:148068962A>G	ENST00000370460.2	+	20	4168	c.3689A>G	c.(3688-3690)aAt>aGt	p.N1230S	AFF2_ENST00000370457.5_Missense_Mutation_p.N1195S|AFF2_ENST00000286437.5_Missense_Mutation_p.N871S|AFF2_ENST00000342251.3_Missense_Mutation_p.N1197S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1230					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGTAACAATGGCCCAGTC	0.532													G	148068962	A	G	148068962	3	3	331	1	0	0	0	0	1	0	0	0	357	101	4	3	3822	3	AFF2	23	148068962	Missense_Mutation	SNP	A	TCGA-DB-A64W-01A-11D-A29Q-08	12663570	148068962	7201598	51	21928											
PRDM2	7799	broad.mit.edu	37	chr1	14107261	14107261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctccgccccctcccctccttCctaccgtacctcttccagcc	3	10	3	25	2	1	0	0	0	1	0	6	0	6	0	11	0	3	1	11	0	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:14107261C>G	ENST00000235372.7	+	8	3827	c.2971C>G	c.(2971-2973)Cct>Gct	p.P991A	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.P790A|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P991A|PRDM2_ENST00000413440.1_Missense_Mutation_p.P790A|PRDM2_ENST00000505823.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	991	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TCCCCTCCTTCCTACCGTACC	0.602													G	14107261	C	G	14107261	3	3	332	1	0	0	0	0	1	0	0	0	12544	855	30	4	2997	4	PRDM2	1	14107261	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		14107261	235143360	1	21929											
EIF4G3	8672	broad.mit.edu	37	chr1	21306934	21306934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacataaggagggccactaTgacggtactagaaaagagaa	18	5	11	7	1	0	3	0	1	0	2	0	5	0	4	1	3	2	1	1	3	8	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:21306934T>C	ENST00000602326.1	-	8	822	c.239A>G	c.(238-240)cAt>cGt	p.H80R	EIF4G3_ENST00000374927.4_Missense_Mutation_p.H73R|EIF4G3_ENST00000356916.3_Missense_Mutation_p.H84R|EIF4G3_ENST00000374937.3_Missense_Mutation_p.H80R|EIF4G3_ENST00000400422.1_Missense_Mutation_p.H73R|EIF4G3_ENST00000264211.8_Missense_Mutation_p.H73R|EIF4G3_ENST00000374935.3_Missense_Mutation_p.H73R	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	73					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGGGCCACTATGACGGTACTA	0.423													C	21306934	T	C	21306934	3	2	332	1	0	0	0	0	1	0	0	0	5079	1464	51	3	4651	3	EIF4G3	1	21306934	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	7199673	21306934	227943687	2	21930											
HSPG2	3339	broad.mit.edu	37	chr1	22159014	22159014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggccttccccccacgagGccgaaggagatgaagtcggg	8	5	15	13	4	0	2	0	1	0	1	3	5	1	2	5	4	0	0	5	4	2	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22159014G>A	ENST00000374695.3	-	81	11260	c.11181C>T	c.(11179-11181)ggC>ggT	p.G3727G		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3727	Laminin G-like 1.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCCCCACGAGGCCGAAGGAGA	0.662													A	22159014	G	A	22159014	2	1	332	1	0	0	0	0	0	0	0	1	7488	1190	42	2		2	HSPG2	1	22159014	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	852080	22159014	227091607	3	21931											
EPHA8	2046	broad.mit.edu	37	chr1	22913059	22913059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactccgcagctccagccGcccaagcctgccactgtgac	7	5	9	20	2	0	1	0	1	0	0	2	1	2	1	7	0	4	2	7	0	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:22913059G>A	ENST00000166244.3	+	4	982	c.910G>A	c.(910-912)Gcc>Acc	p.A304T	EPHA8_ENST00000538803.1_Missense_Mutation_p.A304T|EPHA8_ENST00000374644.4_Missense_Mutation_p.A304T	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	304	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.A304T(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AGCTCCAGCCGCCCAAGCCTG	0.657													A	22913059	G	A	22913059	3	1	332	1	0	0	0	0	1	0	0	0	5214	1087	38	1	924	1	EPHA8	1	22913059	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	754045	22913059	226337562	4	21932											
SYTL1	84958	broad.mit.edu	37	chr1	27674019	27674019	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcccacttcggctctgAccttgtccgagcgtctatgc	6	11	9	15	3	2	1	0	1	2	0	4	2	3	1	3	1	3	1	3	1	2	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:27674019A>T	ENST00000543823.1	+	2	761	c.299A>T	c.(298-300)gAc>gTc	p.D100V	SYTL1_ENST00000318074.5_Missense_Mutation_p.D100V			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	100					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCGGCTCTGACCTTGTCCGA	0.642													T	27674019	A	T	27674019	3	4	332	1	0	0	0	0	1	0	0	0	15579	275	10	5	305	5	SYTL1	1	27674019	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	4760960	27674019	221576602	5	21933											
EPHA10	284656	broad.mit.edu	37	chr1	38184352	38184352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagtcatctcggccaCggcctccaggctcccatagc	6	7	11	17	2	2	0	1	0	1	0	5	0	4	0	4	4	1	2	4	4	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:38184352C>T	ENST00000373048.4	-	16	2892	c.2893G>A	c.(2893-2895)Gtg>Atg	p.V965M	EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000330210.7_Missense_Mutation_p.V460M|EPHA10_ENST00000427468.2_Missense_Mutation_p.V965M|EPHA10_ENST00000540011.1_3'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	965	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ATCTCGGCCACGGCCTCCAGG	0.667													T	38184352	C	T	38184352	3	4	332	1	0	0	0	0	1	0	0	0	5207	536	19	1	141	1	EPHA10	1	38184352	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	10510333	38184352	211066269	6	21934											
ZMYND12	84217	broad.mit.edu	37	chr1	42915623	42915623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgcaggccatgctgcCgttcttcctctgaattgtag	5	13	11	12	1	2	1	0	1	2	0	3	1	3	1	3	1	4	6	3	1	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:42915623C>T	ENST00000372565.3	-	2	487	c.218G>A	c.(217-219)cGg>cAg	p.R73Q	ZMYND12_ENST00000433602.2_Silent_p.T20T	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	73						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GCCATGCTGCCGTTCTTCCTC	0.547													T	42915623	C	T	42915623	3	4	332	1	0	0	0	0	1	0	0	0	17808	652	23	1	907	1	ZMYND12	1	42915623	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	4731271	42915623	206334998	7	21935											
KDM4A	9682	broad.mit.edu	37	chr1	44132737	44132737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgctacccgtcggtggaTtgagtacggcaagcaagctg	8	11	13	9	3	0	1	0	1	0	0	1	2	0	2	1	3	5	5	1	3	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:44132737T>C	ENST00000372396.3	+	8	1024	c.890T>C	c.(889-891)aTt>aCt	p.I297T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	297	JmjC.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGTCGGTGGATTGAGTACGGC	0.443													C	44132737	T	C	44132737	3	2	332	1	0	0	0	0	1	0	0	0	8186	1493	52	3	916	3	KDM4A	1	44132737	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	1217114	44132737	205117884	8	21936											
CYP4A22	284541	broad.mit.edu	37	chr1	47607808	47607808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgctcctgttgaatgggcaGacatggttccagcatcgacg	8	11	12	10	2	0	2	0	1	0	1	3	3	2	2	2	2	2	5	2	2	1	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:47607808G>C	ENST00000371891.3	+	4	442	c.411G>C	c.(409-411)caG>caC	p.Q137H	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000371890.3_Missense_Mutation_p.Q137H|CYP4A22_ENST00000294337.3_Missense_Mutation_p.Q137H	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	137						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGAATGGGCAGACATGGTTCC	0.532													C	47607808	G	C	47607808	3	2	332	1	0	0	0	0	1	0	0	0	4217	933	33	4	425	4	CYP4A22	1	47607808	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3475071	47607808	201642813	9	21937											
NEGR1	257194	broad.mit.edu	37	chr1	72163701	72163701	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacttacagttgacaacAacttttactttcctcacatc	12	14	3	12	0	1	2	1	2	0	0	3	2	2	2	1	0	4	1	1	0	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:72163701A>G	ENST00000357731.5	-	4	896	c.657T>C	c.(655-657)gtT>gtC	p.V219V	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Silent_p.V91V|NEGR1_ENST00000434200.1_Intron	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		AGTTGACAACAACTTTTACTT	0.348													G	72163701	A	G	72163701	2	3	332	1	0	0	0	0	0	0	0	1	10393	117	5	3		3	NEGR1	1	72163701	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	24555893	72163701	177086920	10	21938											
ZNF644	84146	broad.mit.edu	37	chr1	91406264	91406264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctacttgatttattaaagtgCcatctgactttatattactc	11	18	4	8	0	1	2	0	2	1	0	2	2	1	2	1	0	3	0	1	0	7	9			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:91406264C>T	ENST00000370440.1	-	3	864	c.647G>A	c.(646-648)gGc>gAc	p.G216D	ZNF644_ENST00000337393.5_Missense_Mutation_p.G216D|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		TATTAAAGTGCCATCTGACTT	0.388													T	91406264	C	T	91406264	3	4	332	1	0	0	0	0	1	0	0	0	18161	739	26	2	3352	2	ZNF644	1	91406264	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	19242563	91406264	157844357	11	21939											
SLC30A7	148867	broad.mit.edu	37	chr1	101377773	101377773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttttcaaacatggaggtCatggacattctcatggctct	9	15	9	8	0	4	0	3	0	2	0	5	2	4	2	0	4	1	2	0	4	1	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:101377773C>T	ENST00000370112.4	+	5	677	c.490C>T	c.(490-492)Cat>Tat	p.H164Y	SLC30A7_ENST00000357650.4_Missense_Mutation_p.H164Y	NM_001144884.1|NM_133496.4	NP_001138356.1|NP_598003.2	Q8NEW0	ZNT7_HUMAN	solute carrier family 30 (zinc transporter), member 7	164	His-rich loop.				zinc ion transport	Golgi apparatus|integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(2)|lung(10)	15		all_epithelial(167;0.000445)|all_lung(203;0.00645)|Lung NSC(277;0.0119)		Epithelial(280;0.0437)|all cancers(265;0.0498)|COAD - Colon adenocarcinoma(174;0.162)|Colorectal(144;0.19)|Lung(183;0.201)		ACATGGAGGTCATGGACATTC	0.373													T	101377773	C	T	101377773	3	4	332	1	0	0	0	0	1	0	0	0	14654	826	29	2	508	2	SLC30A7	1	101377773	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	9971509	101377773	147872848	12	21940											
AHCYL1	10768	broad.mit.edu	37	chr1	110551714	110551714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccccaccaaaactggccGaagatctttgtctcgctcga	10	10	7	14	3	2	1	0	0	2	1	5	3	3	1	4	1	1	1	4	1	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:110551714G>A	ENST00000369799.5	+	2	546	c.179G>A	c.(178-180)cGa>cAa	p.R60Q	AHCYL1_ENST00000393614.4_Missense_Mutation_p.R13Q|AHCYL1_ENST00000475081.1_3'UTR|AHCYL1_ENST00000359172.3_Missense_Mutation_p.R13Q	NM_001242673.1|NM_001242674.1|NM_006621.5	NP_001229602.1|NP_001229603.1|NP_006612.2	O43865	SAHH2_HUMAN	adenosylhomocysteinase-like 1	60					one-carbon metabolic process	endoplasmic reticulum	adenosylhomocysteinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)	18		all_epithelial(167;3.58e-05)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0259)|Colorectal(144;0.123)|all cancers(265;0.134)|Epithelial(280;0.141)|LUSC - Lung squamous cell carcinoma(189;0.143)		AAAACTGGCCGAAGATCTTTG	0.433													A	110551714	G	A	110551714	3	1	332	1	0	0	0	0	1	0	0	0	410	1058	37	1	185	1	AHCYL1	1	110551714	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	9173941	110551714	138698907	13	21941											
ARHGEF11	9826	broad.mit.edu	37	chr1	156916463	156916463	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaggacgcacctgcatgaaGagctggaatcgactctcctt	11	8	10	12	2	1	2	0	1	1	1	3	5	1	4	2	2	2	3	2	2	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:156916463G>C	ENST00000368194.3	-	28	3724	c.2685C>G	c.(2683-2685)ctC>ctG	p.L895L	ARHGEF11_ENST00000315174.8_Silent_p.L271L|ARHGEF11_ENST00000361409.2_Silent_p.L855L	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	855	DH.				actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCATGAAGAGCTGGAATC	0.522													C	156916463	G	C	156916463	2	2	332	1	0	0	0	0	0	0	0	1	899	929	33	4		4	ARHGEF11	1	156916463	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	46364749	156916463	92334158	14	21942											
FMO4	2329	broad.mit.edu	37	chr1	171300885	171300885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttgggaacactggaggAgacattgctgtggaactcag	10	9	15	7	0	2	1	1	0	1	1	2	5	2	4	0	5	3	1	0	5	2	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:171300885A>G	ENST00000367749.3	+	6	921	c.591A>G	c.(589-591)ggA>ggG	p.G197G	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	197					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ACACTGGAGGAGACATTGCTG	0.458													G	171300885	A	G	171300885	2	3	332	1	0	0	0	0	0	0	0	1	6006	291	11	3		3	FMO4	1	171300885	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	14384422	171300885	77949736	15	21943											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220364615	220364615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaatccatccaatttgtgCgtcgcggtacccttagagac	9	12	9	11	3	0	2	0	1	0	1	3	3	2	2	3	1	2	1	3	1	4	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:220364615C>T	ENST00000358951.2	-	14	1398	c.1282G>A	c.(1282-1284)Gca>Aca	p.A428T		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	428					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity	p.A428T(2)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CCAATTTGTGCGTCGCGGTAC	0.468													T	220364615	C	T	220364615	3	4	332	1	0	0	0	0	1	0	0	0	13024	768	27	1	2987	1	RAB3GAP2	1	220364615	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	49063730	220364615	28886006	16	21944											
MIA3	375056	broad.mit.edu	37	chr1	222801580	222801580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagatggggaagatatgAaaactccagcaaagtctggc	15	8	11	7	0	1	3	0	1	1	2	2	4	2	4	1	3	3	1	1	3	6	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:222801580A>G	ENST00000344922.5	+	4	1043	c.1018A>G	c.(1018-1020)Aaa>Gaa	p.K340E	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Missense_Mutation_p.K340E|MIA3_ENST00000344441.6_Missense_Mutation_p.K340E	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	340					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GGAAGATATGAAAACTCCAGC	0.413													G	222801580	A	G	222801580	3	3	332	1	0	0	0	0	1	0	0	0	9640	247	9	3	1032	3	MIA3	1	222801580	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	2436965	222801580	26449041	17	21945											
OR2T2	401992	broad.mit.edu	37	chr1	248616334	248616334	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacatctgtatcactgTccccaagatgctccaggacc	10	10	6	15	0	3	1	1	0	2	1	5	2	5	2	4	1	2	2	4	1	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr1:248616334T>C	ENST00000342927.3	+	1	258	c.236T>C	c.(235-237)gTc>gCc	p.V79A		NM_001004136.1	NP_001004136.1	Q6IF00	OR2T2_HUMAN	olfactory receptor, family 2, subfamily T, member 2	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(21)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	37	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTATCACTGTCCCCAAGATG	0.522													C	248616334	T	C	248616334	3	2	332	1	0	0	0	0	1	0	0	0	11096	1667	58	3	238	3	OR2T2	1	248616334	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	25814754	248616334	634287	18	21946											
TTN	7273	broad.mit.edu	37	chr2	179395863	179395863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctttacgcagccaggtcAcagttggtaccggctcacca	8	9	10	14	2	2	0	2	0	0	0	3	0	3	0	4	3	3	4	4	3	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:179395863A>G	ENST00000589042.1	-	358	105703	c.105479T>C	c.(105478-105480)gTg>gCg	p.V35160A	TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V32592A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V26220A|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V26287A|TTN_ENST00000591111.1_Missense_Mutation_p.V33519A|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V26095A|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33519							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGCCAGGTCACAGTTGGTAC	0.512													G	179395863	A	G	179395863	3	3	332	1	0	0	0	0	1	0	0	0	16837	159	6	3	2520	3	TTN	2	179395863	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		179395863	63803510	19	21947											
TTN	7273	broad.mit.edu	37	chr2	179612750	179612750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatcctgctttggaaatgCtgccaactctggttctagag	9	12	9	11	0	2	1	0	0	2	1	3	2	3	2	3	2	4	3	3	2	3	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:179612750C>T	ENST00000360870.5	-	46	14599	c.14377G>A	c.(14377-14379)Gca>Aca	p.A4793T	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	902	Ig-like 28.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGAAATGCTGCCAACTCT	0.458													T	179612750	C	T	179612750	3	4	332	1	0	0	0	0	1	0	0	0	16837	797	28	2	95920	2	TTN	2	179612750	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	216887	179612750	63586623	20	21948											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	332	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	29500362	209113112	34086261	21	21949											
FANCD2	2177	broad.mit.edu	37	chr3	10123119	10123119	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctgctatcagaggctGctgcagatttttcatgggct	6	15	10	10	0	3	2	2	0	1	2	4	2	4	2	1	2	3	5	1	2	1	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:10123119G>A	ENST00000287647.3	+	32	3288	c.3195G>A	c.(3193-3195)ctG>ctA	p.L1065L	FANCD2_ENST00000383806.1_Silent_p.L1065L|FANCD2OS_ENST00000524279.1_3'UTR|FANCD2_ENST00000419585.1_Silent_p.L1065L|FANCD2OS_ENST00000436517.1_5'UTR|FANCD2_ENST00000383807.1_Silent_p.L1065L	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1065					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		ATCAGAGGCTGCTGCAGATTT	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10123119	G	A	10123119	2	1	332	1	0	0	0	0	0	0	0	1	5714	1306	46	2		2	FANCD2	3	10123119	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		10123119	187899311	22	21950											
STAB1	23166	broad.mit.edu	37	chr3	52554824	52554824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctttggcccagggcaGccctgaggcctgctggcgct	4	8	14	15	1	0	1	0	1	0	0	1	2	1	1	4	4	2	3	4	4	0	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52554824G>T	ENST00000321725.6	+	55	5787	c.5711G>T	c.(5710-5712)aGc>aTc	p.S1904I		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1904					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCCCAGGGCAGCCCTGAGGCC	0.652													T	52554824	G	T	52554824	3	4	332	1	0	0	0	0	1	0	0	0	15333	971	34	4	5929	4	STAB1	3	52554824	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	42431705	52554824	145467606	23	21951											
TMEM110	375346	broad.mit.edu	37	chr3	52877766	52877766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggacgatcagcatgaCgatggccagcttcaagtctg	11	7	14	9	2	3	1	2	1	1	0	3	5	3	2	1	3	2	2	1	3	2	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:52877766C>T	ENST00000355083.5	-	6	734	c.589G>A	c.(589-591)Gtc>Atc	p.V197I	TMEM110-MUSTN1_ENST00000504329.1_Missense_Mutation_p.V197I	NM_198563.2	NP_940965.1			transmembrane protein 110											kidney(1)|large_intestine(1)|lung(2)	4				BRCA - Breast invasive adenocarcinoma(193;7.72e-05)|Kidney(197;0.000777)|KIRC - Kidney renal clear cell carcinoma(197;0.000915)|OV - Ovarian serous cystadenocarcinoma(275;0.0541)		ATCAGCATGACGATGGCCAGC	0.517													T	52877766	C	T	52877766	3	4	332	1	0	0	0	0	1	0	0	0	16127	536	19	1	307	1	TMEM110	3	52877766	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	322942	52877766	145144664	24	21952											
POLQ	10721	broad.mit.edu	37	chr3	121206245	121206245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatcgctttttgcaccGccactccttaatgaatgttt	10	14	7	10	2	0	1	0	1	0	0	2	2	1	2	3	1	1	3	3	1	4	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:121206245G>A	ENST00000264233.5	-	16	5661	c.5533C>T	c.(5533-5535)Cgg>Tgg	p.R1845W		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1845					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTTTTGCACCGCCACTCCTTA	0.383								DNA polymerases (catalytic subunits)					A	121206245	G	A	121206245	3	1	332	1	0	0	0	0	1	0	0	0	12285	1086	38	1	2299	1	POLQ	3	121206245	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	68328479	121206245	76816185	25	21953											
RYK	6259	broad.mit.edu	37	chr3	133878164	133878164	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaggggtcaatgtccacGtagggagtctggcccagagt	9	8	15	9	2	2	1	1	0	1	1	4	3	3	2	2	4	0	1	2	4	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr3:133878164G>A	ENST00000427044.2	-	15	1672	c.1062C>T	c.(1060-1062)taC>taT	p.Y354Y	RYK_ENST00000296084.4_Silent_p.Y544Y			P34925	RYK_HUMAN	receptor-like tyrosine kinase	540	Protein kinase.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						CAATGTCCACGTAGGGAGTCT	0.488													A	133878164	G	A	133878164	2	1	332	1	0	0	0	0	0	0	0	1	13858	1140	40	1		1	RYK	3	133878164	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	12671919	133878164	64144266	26	21954											
LPHN3	23284	broad.mit.edu	37	chr4	62800561	62800561	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcatcctcttgtaggcaAtggtcgagacagttaacaac	11	13	8	9	1	2	1	1	0	1	1	4	2	3	1	1	2	2	3	1	2	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:62800561A>G	ENST00000512091.2	+	13	2659	c.1912A>G	c.(1912-1914)Atg>Gtg	p.M638V	LPHN3_ENST00000514157.1_Missense_Mutation_p.M638V|LPHN3_ENST00000508946.1_Missense_Mutation_p.M638V|LPHN3_ENST00000508693.1_Missense_Mutation_p.M706V|LPHN3_ENST00000506700.1_Missense_Mutation_p.M638V|LPHN3_ENST00000504896.1_Missense_Mutation_p.M638V|LPHN3_ENST00000511324.1_Missense_Mutation_p.M706V|LPHN3_ENST00000545650.1_Missense_Mutation_p.M638V|LPHN3_ENST00000508078.1_3'UTR|LPHN3_ENST00000514591.1_Missense_Mutation_p.M638V|LPHN3_ENST00000506720.1_Missense_Mutation_p.M706V|LPHN3_ENST00000507625.1_Missense_Mutation_p.M706V|LPHN3_ENST00000514996.1_Missense_Mutation_p.M638V|LPHN3_ENST00000509896.1_Missense_Mutation_p.M706V|LPHN3_ENST00000506746.1_Missense_Mutation_p.M706V|LPHN3_ENST00000507164.1_Missense_Mutation_p.M706V			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTTGTAGGCAATGGTCGAGAC	0.493													G	62800561	A	G	62800561	3	3	332	1	0	0	0	0	1	0	0	0	8987	101	4	3	1954	3	LPHN3	4	62800561	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		62800561	128353715	27	21955											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68930540	68930540	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgaaccaaagcaatgTcattttcatttgtttctcta	12	15	6	8	0	3	2	2	1	1	1	4	2	3	2	1	0	3	3	1	0	4	5	rs145412545		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:68930540T>C	ENST00000356291.2	-	8	937	c.878A>G	c.(877-879)gAc>gGc	p.D293G	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	293	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAAAGCAATGTCATTTTCATT	0.378													C	68930540	T	C	68930540	3	2	332	1	0	0	0	0	1	0	0	0	16343	1667	58	3	450	3	TMPRSS11F	4	68930540	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	6129979	68930540	122223736	28	21956											
ENAM	10117	broad.mit.edu	37	chr4	71510353	71510353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatcactcttccaccacCggaactccatctagcgatgg	11	8	7	15	2	3	0	1	0	2	0	5	2	5	1	4	2	3	1	4	2	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:71510353C>T	ENST00000396073.3	+	9	3491	c.3210C>T	c.(3208-3210)acC>acT	p.T1070T	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	1070					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			CTTCCACCACCGGAACTCCAT	0.448													T	71510353	C	T	71510353	2	4	332	1	0	0	0	0	0	0	0	1	5153	639	23	1		1	ENAM	4	71510353	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	2579813	71510353	119643923	29	21957											
CXCL5	6374	broad.mit.edu	37	chr4	74863731	74863731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaagtgacaagtacccGtccaaaattttctggatgac	14	10	8	9	1	2	2	1	2	1	0	3	4	3	3	2	1	1	1	2	1	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:74863731G>A	ENST00000296027.4	-	3	521	c.324C>T	c.(322-324)gaC>gaT	p.D108D		NM_002994.3	NP_002985.1	P42830	CXCL5_HUMAN	chemokine (C-X-C motif) ligand 5	108					cell-cell signaling|chemotaxis|immune response|positive regulation of cell proliferation|signal transduction	extracellular space	chemokine activity	p.D108D(1)		endometrium(3)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			ACAAGTACCCGTCCAAAATTT	0.388													A	74863731	G	A	74863731	2	1	332	1	0	0	0	0	0	0	0	1	4120	1136	40	1		1	CXCL5	4	74863731	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3353378	74863731	116290545	30	21958											
SEPT11	55752	broad.mit.edu	37	chr4	77941664	77941664	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttgtagttgagaatgAaaatcattgcgattttgtga	11	16	9	5	1	2	3	1	3	1	1	3	5	2	3	0	0	1	2	0	0	4	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:77941664A>G	ENST00000264893.6	+	7	995	c.794A>G	c.(793-795)gAa>gGa	p.E265G	SEPT11_ENST00000505788.1_Missense_Mutation_p.E265G|SEPT11_ENST00000502584.1_Missense_Mutation_p.E265G|SEPT11_ENST00000541121.1_Missense_Mutation_p.E275G|SEPT11_ENST00000512575.1_Intron|SEPT11_ENST00000510515.1_Missense_Mutation_p.E275G	NM_018243.2	NP_060713.1	Q9NVA2	SEP11_HUMAN	septin 11	265					cell cycle|cell division|protein heterooligomerization	axon|cell junction|dendritic spine|septin complex|stress fiber|synapse	GTP binding|protein binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(1)|skin(1)|stomach(1)	11						GTTGAGAATGAAAATCATTGC	0.453													G	77941664	A	G	77941664	3	3	332	1	0	0	0	0	1	0	0	0	14154	246	9	3	820	3	SEPT11	4	77941664	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	3077933	77941664	113212612	31	21959											
BMP2K	55589	broad.mit.edu	37	chr4	79792136	79792136	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcaacagcaAcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:79792136A>G	ENST00000335016.5	+	11	1597	c.1431A>G	c.(1429-1431)caA>caG	p.Q477Q	BMP2K_ENST00000502871.1_Silent_p.Q477Q	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	477	Gln/His-rich.			Missing (in Ref. 2; CAB70863).		nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						agcaacagcaacagcagcagc	0.507													G	79792136	A	G	79792136	2	3	332	1	0	0	0	0	0	0	0	1	1466	40	2	3		3	BMP2K	4	79792136	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	1850472	79792136	111362140	32	21960											
MMRN1	22915	broad.mit.edu	37	chr4	90816198	90816198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttaacaacagtaagcatTcttggactatacctgaggat	13	11	9	8	0	1	1	0	1	1	0	1	3	1	3	1	3	4	3	1	3	5	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90816198T>C	ENST00000394980.1	+	2	395	c.76T>C	c.(76-78)Tct>Cct	p.S26P	MMRN1_ENST00000394981.1_Missense_Mutation_p.S26P|MMRN1_ENST00000264790.2_Missense_Mutation_p.S26P			Q13201	MMRN1_HUMAN	multimerin 1	26					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGTAAGCATTCTTGGACTAT	0.428													C	90816198	T	C	90816198	3	2	332	1	0	0	0	0	1	0	0	0	9746	1783	62	3	78	3	MMRN1	4	90816198	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	11024062	90816198	100338078	33	21961											
MMRN1	22915	broad.mit.edu	37	chr4	90833188	90833188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggatacagtgggccgaaAtgtcaactaagaggtacact	13	8	11	9	1	1	1	1	0	0	1	1	3	1	2	2	3	3	1	2	3	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:90833188A>G	ENST00000394980.1	+	4	1156	c.837A>G	c.(835-837)aaA>aaG	p.K279K	MMRN1_ENST00000508372.1_Silent_p.K21K|MMRN1_ENST00000394981.1_Silent_p.K245K|MMRN1_ENST00000264790.2_Silent_p.K279K			Q13201	MMRN1_HUMAN	multimerin 1	279	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		GTGGGCCGAAATGTCAACTAA	0.368													G	90833188	A	G	90833188	2	3	332	1	0	0	0	0	0	0	0	1	9746	98	4	3		3	MMRN1	4	90833188	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	16990	90833188	100321088	34	21962											
FAT1	2195	broad.mit.edu	37	chr4	187629810	187629810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgggaataagcaggaatgGcctttaccatgaccacaggt	14	8	11	8	0	0	1	0	1	0	0	0	3	0	3	3	4	2	1	3	4	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:187629810G>A	ENST00000441802.2	-	2	1381	c.1172C>T	c.(1171-1173)gCc>gTc	p.A391V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	391	Cadherin 3.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGAATGGCCTTTACCAT	0.388										HNSCC(5;0.00058)			A	187629810	G	A	187629810	3	1	332	1	0	0	0	0	1	0	0	0	5738	1203	42	2	12698	2	FAT1	4	187629810	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	96796622	187629810	3524466	35	21963											
TRIML1	339976	broad.mit.edu	37	chr4	189065196	189065196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctcttgcaggagcgaGccactcttgcttcagtgtcc	5	12	10	14	1	3	0	1	0	2	0	5	2	4	1	2	1	5	3	2	1	0	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr4:189065196G>A	ENST00000332517.3	+	5	905	c.765G>A	c.(763-765)gaG>gaA	p.E255E	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	255					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GCAGGAGCGAGCCACTCTTGC	0.567													A	189065196	G	A	189065196	2	1	332	1	0	0	0	0	0	0	0	1	16651	962	34	2		2	TRIML1	4	189065196	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	1435386	189065196	2089080	36	21964											
CDH6	1004	broad.mit.edu	37	chr5	31297444	31297444	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgcagatgatccaacatAtgggaacagtgctaaagttg	14	9	12	6	0	0	2	0	1	0	1	1	4	1	4	1	2	4	3	1	2	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:31297444A>T	ENST00000265071.2	+	4	837	c.572A>T	c.(571-573)tAt>tTt	p.Y191F	CDH6_ENST00000514738.1_Missense_Mutation_p.Y136F	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	191	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GATCCAACATATGGGAACAGT	0.363													T	31297444	A	T	31297444	3	4	332	1	0	0	0	0	1	0	0	0	3144	449	16	5	582	5	CDH6	5	31297444	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08		31297444	149617816	37	21965											
DAB2	1601	broad.mit.edu	37	chr5	39383207	39383207	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaggggtgggaaagaagTtgagattggcagaaaaggca	15	7	17	2	0	0	3	0	1	0	3	0	6	0	4	0	5	0	3	0	5	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:39383207T>G	ENST00000320816.6	-	10	1321	c.854A>C	c.(853-855)aAc>aCc	p.N285T	DAB2_ENST00000545653.1_Missense_Mutation_p.N264T|DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.N264T	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	285					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGGAAAGAAGTTGAGATTGGC	0.468													G	39383207	T	G	39383207	3	3	332	1	0	0	0	0	1	0	0	0	4252	1725	60	5	1478	5	DAB2	5	39383207	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	8085763	39383207	141532053	38	21966											
RASGRF2	5924	broad.mit.edu	37	chr5	80382767	80382767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagccaaacgttcatccGccaaggtaagtccctgtgaa	12	7	8	14	2	1	1	1	1	0	0	3	1	3	1	5	1	2	2	5	1	4	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:80382767G>A	ENST00000265080.4	+	9	1452	c.1385G>A	c.(1384-1386)cGc>cAc	p.R462H	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	462					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACGTTCATCCGCCAAGGTAAG	0.547													A	80382767	G	A	80382767	3	1	332	1	0	0	0	0	1	0	0	0	13161	1087	38	1	1419	1	RASGRF2	5	80382767	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	40999560	80382767	100532493	39	21967											
RGMB	285704	broad.mit.edu	37	chr5	98129390	98129390	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagtggcaatgggactcCccgtggaggcagtgatttgt	8	9	15	9	1	0	1	0	1	0	0	1	3	1	3	2	4	1	3	2	4	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:98129390C>G	ENST00000308234.7	+	5	1772	c.1370C>G	c.(1369-1371)cCc>cGc	p.P457R	RGMB_ENST00000513185.1_Missense_Mutation_p.P416R	NM_001012761.2	NP_001012779.2	Q6NW40	RGMB_HUMAN	repulsive guidance molecule family member b	416					axon guidance|BMP signaling pathway|cell adhesion|positive regulation of transcription, DNA-dependent	anchored to plasma membrane|ER-Golgi intermediate compartment|membrane raft	identical protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	10		all_cancers(142;2.76e-08)|all_epithelial(76;2.98e-11)|all_lung(232;0.000485)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0587)		AATGGGACTCCCCGTGGAGGC	0.502													G	98129390	C	G	98129390	3	3	332	1	0	0	0	0	1	0	0	0	13369	623	22	4	1384	4	RGMB	5	98129390	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	17746623	98129390	82785870	40	21968											
NEUROG1	4762	broad.mit.edu	37	chr5	134871191	134871191	+	Frame_Shift_Del	DEL	C	C	-																															ctcctgctcgtcgtcctgtgCccctggaacctcagacgccc																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr5:134871191delC	ENST00000314744.4	-	1	448	c.190delG	c.(190-192)gcafs	p.A64fs		NM_006161.2	NP_006152.2	Q92886	NGN1_HUMAN	neurogenin 1	64					positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	nucleus	chromatin binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			endometrium(1)|liver(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCGTCCTGTGCCCCTGGAACC	0.756													-	134871191	C	-	134871191	7	5	332	1	0	1	0	1	0	0	0	0	10428	739	26	0	527	0	NEUROG1	5	134871191	Frame_Shift_Del	DEL	C	TCGA-DB-A64X-01A-11D-A29Q-08	36741801	134871191	46044069	41	21969											
CDKAL1	54901	broad.mit.edu	37	chr6	20846359	20846359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacgccagaggaaatttggCcagttatccaattgatgaac	14	9	9	9	1	0	3	0	2	0	1	1	4	1	4	3	2	1	1	3	2	4	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:20846359C>T	ENST00000274695.4	+	9	859	c.692C>T	c.(691-693)gCc>gTc	p.A231V	CDKAL1_ENST00000378624.4_Missense_Mutation_p.A161V|CDKAL1_ENST00000378610.1_Missense_Mutation_p.A231V	NM_017774.3	NP_060244.2	Q5VV42	CDKAL_HUMAN	CDK5 regulatory subunit associated protein 1-like 1	231					RNA modification	integral to membrane	4 iron, 4 sulfur cluster binding|metal ion binding|transferase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|stomach(1)	29	all_epithelial(95;0.0708)|Breast(50;0.131)|Ovarian(93;0.227)		OV - Ovarian serous cystadenocarcinoma(7;0.0241)|all cancers(50;0.123)|Epithelial(50;0.248)			GGAAATTTGGCCAGTTATCCA	0.318													T	20846359	C	T	20846359	3	4	332	1	0	0	0	0	1	0	0	0	3182	739	26	2	718	2	CDKAL1	6	20846359	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		20846359	150268708	42	21970											
ATF6B	1388	broad.mit.edu	37	chr6	32088575	32088575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggctggacgagggactgcaGaaggactgtggtgctgggag	8	7	20	6	1	0	1	0	0	0	1	0	6	0	5	0	6	2	3	0	6	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32088575G>A	ENST00000375201.4	-	8	841	c.796C>T	c.(796-798)Ctg>Ttg	p.L266L	ATF6B_ENST00000375203.3_Silent_p.L269L			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	269					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						AGGGACTGCAGAAGGACTGTG	0.627													A	32088575	G	A	32088575	2	1	332	1	0	0	0	0	0	0	0	1	1090	933	33	2		2	ATF6B	6	32088575	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	11242216	32088575	139026492	43	21971											
BTNL2	56244	broad.mit.edu	37	chr6	32362767	32362767	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttctccatcttcttGcccctccacagtgatcagtg	6	14	6	15	0	4	1	1	1	3	0	6	1	5	1	4	0	2	1	4	0	0	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:32362767G>A	ENST00000454136.3	-	6	1118	c.1114C>T	c.(1114-1116)Caa>Taa	p.Q372*	BTNL2_ENST00000540315.1_Nonsense_Mutation_p.Q162*|BTNL2_ENST00000414363.1_Nonsense_Mutation_p.Q162*|BTNL2_ENST00000544175.1_Nonsense_Mutation_p.Q95*|BTNL2_ENST00000374993.1_Nonsense_Mutation_p.Q372*|BTNL2_ENST00000429232.2_3'UTR|BTNL2_ENST00000374995.3_Nonsense_Mutation_p.Q278*			Q9UIR0	BTNL2_HUMAN	butyrophilin-like 2 (MHC class II associated)	372						integral to membrane				central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|urinary_tract(1)	19						CCATCTTCTTGCCCCTCCACA	0.547													A	32362767	G	A	32362767	4	1	332	1	0	0	0	0	0	1	0	0	1575	1328	46	2	257	2	BTNL2	6	32362767	Nonsense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	274192	32362767	138752300	44	21972											
ITPR3	3710	broad.mit.edu	37	chr6	33626884	33626884	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgagctcagcgacaacgcCggctgcaaggaggtgagggg	10	4	17	10	4	1	1	1	1	0	0	1	4	1	2	1	5	5	3	1	5	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:33626884C>T	ENST00000374316.5	+	7	1675	c.615C>T	c.(613-615)gcC>gcT	p.A205A	ITPR3_ENST00000605930.1_Silent_p.A205A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	205	MIR 2.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCGACAACGCCGGCTGCAAGG	0.632													T	33626884	C	T	33626884	2	4	332	1	0	0	0	0	0	0	0	1	7980	639	23	1		1	ITPR3	6	33626884	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	1264117	33626884	137488183	45	21973											
LGSN	51557	broad.mit.edu	37	chr6	63995539	63995539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctggacacgccgtggaGgtctgttgcttcaaatcgta	9	10	12	10	3	2	1	1	0	1	1	3	3	2	3	2	3	1	3	2	3	2	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:63995539G>T	ENST00000370658.5	-	3	316	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	LGSN_ENST00000370657.4_Missense_Mutation_p.L95I	NM_001143940.1|NM_016571.2	NP_001137412.1|NP_057655.2	Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	95					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ACGCCGTGGAGGTCTGTTGCT	0.418													T	63995539	G	T	63995539	3	4	332	1	0	0	0	0	1	0	0	0	8819	1000	35	4	1254	4	LGSN	6	63995539	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	30368655	63995539	107119528	46	21974											
RFX6	222546	broad.mit.edu	37	chr6	117245848	117245848	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggttcttttcatttgatTcgaatgcttctcgatgaata	10	17	7	7	2	3	2	1	2	2	0	5	4	3	2	0	1	1	2	0	1	4	7			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:117245848T>C	ENST00000332958.2	+	15	1588	c.1572T>C	c.(1570-1572)atT>atC	p.I524I		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	524					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTCATTTGATTCGAATGCTTC	0.388													C	117245848	T	C	117245848	2	2	332	1	0	0	0	0	0	0	0	1	13355	1771	62	3		3	RFX6	6	117245848	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	53250309	117245848	53869219	47	21975											
LTV1	84946	broad.mit.edu	37	chr6	144171327	144171327	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgaggaagatgttggAttgttaaataaagcagctcc	13	12	12	4	0	0	2	0	1	0	1	1	5	1	4	1	2	2	5	1	2	5	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr6:144171327A>C	ENST00000367576.5	+	4	503	c.369A>C	c.(367-369)ggA>ggC	p.G123G		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	123										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AAGATGTTGGATTGTTAAATA	0.313													C	144171327	A	C	144171327	2	2	332	1	0	0	0	0	0	0	0	1	9151	320	12	5		5	LTV1	6	144171327	Silent	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	26925479	144171327	26943740	48	21976											
PMS2	5395	broad.mit.edu	37	chr7	6045580	6045580	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactcctttaccgcagtgcTtagactcagtaccacctgcc	9	11	6	15	1	1	1	1	0	0	1	2	1	2	1	5	0	5	3	5	0	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:6045580T>G	ENST00000265849.7	-	2	211	c.106A>C	c.(106-108)Agc>Cgc	p.S36R	PMS2_ENST00000382321.4_Missense_Mutation_p.S36R|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.S36R	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	36					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ACCGCAGTGCTTAGACTCAGT	0.433			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G	6045580	T	G	6045580	3	3	332	1	0	0	0	0	1	0	0	0	12220	1609	56	5	2538	5	PMS2	7	6045580	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		6045580	153093083	49	21977											
THSD7A	221981	broad.mit.edu	37	chr7	11485796	11485796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgtctccttgtacttTcattcccagcaacacttcca	8	15	4	14	0	2	1	1	1	1	0	5	1	4	1	3	0	3	2	3	0	2	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:11485796T>C	ENST00000423059.4	-	13	3207	c.2956A>G	c.(2956-2958)Aaa>Gaa	p.K986E	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 10.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCTTGTACTTTCATTCCCAGC	0.433										HNSCC(18;0.044)			C	11485796	T	C	11485796	3	2	332	1	0	0	0	0	1	0	0	0	15979	1792	62	3	2077	3	THSD7A	7	11485796	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	5440216	11485796	147652867	50	21978											
PUS7	54517	broad.mit.edu	37	chr7	105098346	105098346	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagggggtagagaaaaaTccattttcagagccctgtat	14	10	11	6	0	1	3	1	0	0	3	2	4	2	3	2	2	1	2	2	2	6	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:105098346T>A	ENST00000356362.2	-	16	2091	c.1877A>T	c.(1876-1878)gAt>gTt	p.D626V	PUS7_ENST00000469408.1_Missense_Mutation_p.D626V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	626					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TAGAGAAAAATCCATTTTCAG	0.458													A	105098346	T	A	105098346	3	1	332	1	0	0	0	0	1	0	0	0	12921	1435	50	5	112	5	PUS7	7	105098346	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	93612550	105098346	54040317	51	21979											
TRPV5	56302	broad.mit.edu	37	chr7	142609806	142609806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccacgtcgtagttggcagGtgcatcaataacagtgagaa	12	9	12	8	2	1	1	1	1	0	1	3	2	2	1	1	2	2	4	1	2	4	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr7:142609806G>A	ENST00000265310.1	-	13	1978	c.1630C>T	c.(1630-1632)Cct>Tct	p.P544S		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	544					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TAGTTGGCAGGTGCATCAATA	0.493													A	142609806	G	A	142609806	3	1	332	1	0	0	0	0	1	0	0	0	16700	1261	44	2	571	2	TRPV5	7	142609806	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	37511460	142609806	16528857	52	21980											
TEX15	56154	broad.mit.edu	37	chr8	30694848	30694848	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgattcacattaagggtTatatgcccagatgctccaaa	12	12	7	10	0	1	2	1	1	0	1	2	2	2	2	3	1	2	2	3	1	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:30694848T>G	ENST00000256246.2	-	3	7877	c.7803A>C	c.(7801-7803)atA>atC	p.I2601I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2601										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		CATTAAGGGTTATATGCCCAG	0.383													G	30694848	T	G	30694848	2	3	332	1	0	0	0	0	0	0	0	1	15879	1744	61	5		5	TEX15	8	30694848	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		30694848	115669174	53	21981											
TRPA1	8989	broad.mit.edu	37	chr8	72967828	72967828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgacaggtattgatacGcccataacttggaaaaaatt	14	11	7	9	1	1	2	0	2	1	0	1	3	1	3	2	2	2	1	2	2	6	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:72967828G>A	ENST00000262209.4	-	12	1579	c.1372C>T	c.(1372-1374)Cgt>Tgt	p.R458C	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	458						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	GTATTGATACGCCCATAACTT	0.413													A	72967828	G	A	72967828	3	1	332	1	0	0	0	0	1	0	0	0	16678	1087	38	1	2051	1	TRPA1	8	72967828	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	42272980	72967828	73396194	54	21982											
CSMD3	114788	broad.mit.edu	37	chr8	113395856	113395856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcataaaagtccagagaatCccaattatgttctgtagcaa	16	11	6	8	0	2	1	1	0	1	1	4	2	4	1	2	0	1	3	2	0	7	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:113395856C>A	ENST00000297405.5	-	37	6215	c.5971G>T	c.(5971-5973)Gat>Tat	p.D1991Y	CSMD3_ENST00000343508.3_Missense_Mutation_p.D1951Y|CSMD3_ENST00000455883.2_Missense_Mutation_p.D1887Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.D1921Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1991	CUB 11.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCAGAGAATCCCAATTATGT	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113395856	C	A	113395856	3	1	332	1	0	0	0	0	1	0	0	0	3979	855	30	4	5292	4	CSMD3	8	113395856	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	40428028	113395856	32968166	55	21983											
FOXH1	8928	broad.mit.edu	37	chr8	145701110	145701110	+	Frame_Shift_Del	DEL	C	C	-																															ggcgactctgcctctgggggCcccaggcgggagccgctgca																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr8:145701110delC	ENST00000377317.4	-	1	608	c.30delG	c.(28-30)gggfs	p.G10fs	FOXH1_ENST00000525197.1_5'UTR	NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	10					axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CCTCTGGGGGCCCCAGGCGGG	0.687													-	145701110	C	-	145701110	7	5	332	1	0	1	0	1	0	0	0	0	6059	726	26	0	1079	0	FOXH1	8	145701110	Frame_Shift_Del	DEL	C	TCGA-DB-A64X-01A-11D-A29Q-08	32305254	145701110	662912	56	21984											
TEK	7010	broad.mit.edu	37	chr9	27190616	27190616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctctgagccttactttgggGatggaccaatcaaatccaag	11	10	10	10	0	2	1	1	1	1	0	3	3	3	3	3	3	2	1	3	3	4	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:27190616G>A	ENST00000380036.4	+	10	1859	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N	TEK_ENST00000406359.4_Missense_Mutation_p.D430N|TEK_ENST00000519097.1_Missense_Mutation_p.D326N	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	473	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TTACTTTGGGGATGGACCAAT	0.433													A	27190616	G	A	27190616	3	1	332	1	0	0	0	0	1	0	0	0	15851	1174	41	2	1455	2	TEK	9	27190616	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		27190616	114022815	57	21985											
NFX1	4799	broad.mit.edu	37	chr9	33311160	33311160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatgacaaaaacatgtgAatgtggacgaaccaggtaaa	17	9	9	6	1	0	2	0	2	0	0	0	4	0	3	1	2	2	1	1	2	7	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr9:33311160A>G	ENST00000379540.3	+	6	1495	c.1433A>G	c.(1432-1434)gAa>gGa	p.E478G	NFX1_ENST00000318524.6_Missense_Mutation_p.E478G|NFX1_ENST00000379521.4_Missense_Mutation_p.E478G	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	478					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		AAAACATGTGAATGTGGACGA	0.413													G	33311160	A	G	33311160	3	3	332	1	0	0	0	0	1	0	0	0	10463	246	9	3	1455	3	NFX1	9	33311160	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	6120544	33311160	107902271	58	21986											
ANK3	288	broad.mit.edu	37	chr10	61834572	61834572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataatccttttcggaggCggcttttgcttttacttgca	6	18	9	8	2	0	0	0	0	0	0	2	1	1	1	1	3	3	4	1	3	3	9	rs146929899	byFrequency	TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:61834572C>T	ENST00000280772.2	-	37	6258	c.6067G>A	c.(6067-6069)Gcc>Acc	p.A2023T	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTCGGAGGCGGCTTTTGCT	0.418													T	61834572	C	T	61834572	3	4	332	1	0	0	0	0	1	0	0	0	622	768	27	1	7407	1	ANK3	10	61834572	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		61834572	73700175	59	21987											
POLR3A	11128	broad.mit.edu	37	chr10	79785474	79785474	+	Frame_Shift_Del	DEL	T	T	-																															ggcctagacagtcagccaagTttttcccacaggtttcacat																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:79785474delT	ENST00000372371.3	-	3	361	c.224delA	c.(223-225)aacfs	p.N75fs		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	75					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GTCAGCCAAGTTTTTCCCACA	0.483													-	79785474	T	-	79785474	7	5	332	1	0	1	0	1	0	0	0	0	12305	1725	60	0	4064	0	POLR3A	10	79785474	Frame_Shift_Del	DEL	T	TCGA-DB-A64X-01A-11D-A29Q-08	17950902	79785474	55749273	60	21988											
AGAP11	119385	broad.mit.edu	37	chr10	88769304	88769304	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggaacggtggatccGttccaaatatgagcataagc	15	7	12	7	2	0	2	0	1	0	1	2	5	2	4	2	3	3	2	2	3	5	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr10:88769304G>A	ENST00000444431.1	+	0	3904				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CGGTGGATCCGTTCCAAATAT	0.582													A	88769304	G	A	88769304	1	1	332	0	1	0	0	0	0	0	0	0	367	1145	40	1		1	AGAP11	10	88769304	RNA	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	8983830	88769304	46765443	61	21989											
C11orf35	256329	broad.mit.edu	37	chr11	557018	557018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagggagccccactccaCggtcttgtgatgccgctcgg	5	7	15	14	3	1	1	0	1	1	0	3	2	2	2	4	4	2	2	4	4	0	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:557018C>T	ENST00000329451.3	-	8	855	c.793G>A	c.(793-795)Gtg>Atg	p.V265M		NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	265										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCCCACTCCACGGTCTTGTGA	0.672													T	557018	C	T	557018	3	4	332	1	0	0	0	0	1	0	0	0	1650	536	19	1	1139	1	C11orf35	11	557018	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		557018	134449498	62	21990											
MUC5B	727897	broad.mit.edu	37	chr11	1271146	1271146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacagaccaccacacccgtgGccaccatgtccacaatccac	13	4	5	19	1	0	1	0	0	0	1	2	1	2	1	7	1	1	0	7	1	2	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:1271146G>A	ENST00000447027.1	+	31	13103	c.13045G>A	c.(13045-13047)Gcc>Acc	p.A4349T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4346T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4346	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCGTGGCCACCATGTC	0.627													A	1271146	G	A	1271146	3	1	332	1	0	0	0	0	1	0	0	0	10055	1203	42	2	13167	2	MUC5B	11	1271146	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	714128	1271146	133735370	63	21991											
TMEM132A	54972	broad.mit.edu	37	chr11	60698058	60698058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggactgccaagctggacCgcttcaagggctccaggcac	8	7	12	14	1	2	0	1	0	1	0	3	2	3	2	3	4	2	4	3	4	2	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:60698058C>T	ENST00000005286.4	+	5	1096	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R315C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	315						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CAAGCTGGACCGCTTCAAGGG	0.637													T	60698058	C	T	60698058	3	4	332	1	0	0	0	0	1	0	0	0	16145	652	23	1	961	1	TMEM132A	11	60698058	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	59426912	60698058	74308458	64	21992											
SLC22A12	116085	broad.mit.edu	37	chr11	64360337	64360337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgggagctgctgcgtgCggccctgcctcagacaggtg	4	8	17	12	2	1	1	1	0	0	1	1	2	1	2	2	4	5	2	2	4	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:64360337C>T	ENST00000377574.1	+	2	1236	c.489C>T	c.(487-489)tgC>tgT	p.C163C	SLC22A12_ENST00000377572.1_Silent_p.C163C|SLC22A12_ENST00000336464.7_Silent_p.C163C|SLC22A12_ENST00000473690.1_5'UTR|SLC22A12_ENST00000377567.2_Silent_p.C163C	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	163					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGCTGCGTGCGGCCCTGCCT	0.627													T	64360337	C	T	64360337	2	4	332	1	0	0	0	0	0	0	0	1	14537	776	27	1		1	SLC22A12	11	64360337	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	3662279	64360337	70646179	65	21993											
RELA	5970	broad.mit.edu	37	chr11	65429217	65429217	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcccggcagtccttTcctacaagctcgtgggggtg	7	9	12	13	2	0	0	0	0	0	0	4	0	3	0	4	3	3	2	4	3	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:65429217T>C	ENST00000525693.1	-	4	338	c.276A>G	c.(274-276)ggA>ggG	p.G92G	RELA_ENST00000406246.3_Silent_p.G92G|RELA_ENST00000308639.9_Silent_p.G92G			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	92	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						GGCAGTCCTTTCCTACAAGCT	0.617													C	65429217	T	C	65429217	2	2	332	1	0	0	0	0	0	0	0	1	13304	1770	62	3		3	RELA	11	65429217	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	1068880	65429217	69577299	66	21994											
ALDH3B2	222	broad.mit.edu	37	chr11	67430801	67430801	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccggagggggcgagcAggcaggtgcggtggtgggag	6	3	24	8	3	0	0	0	0	0	0	0	3	0	2	2	9	2	2	2	9	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr11:67430801A>G	ENST00000349015.3	-	10	1481	c.1043T>C	c.(1042-1044)cTg>cCg	p.L348P	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.L348P	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	348					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	GGGGGCGAGCAGGCAGGTGCG	0.617													G	67430801	A	G	67430801	3	3	332	1	0	0	0	0	1	0	0	0	500	188	7	3	118	3	ALDH3B2	11	67430801	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	2001584	67430801	67575715	67	21995											
SLC2A14	144195	broad.mit.edu	37	chr12	7982600	7982600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaatcagcattgaattgCgcctgtaaggttaatcaaag	14	11	9	7	1	2	2	2	2	0	0	2	2	2	2	1	1	2	3	1	1	5	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:7982600C>T	ENST00000543909.1	-	10	1103	c.344G>A	c.(343-345)cGc>cAc	p.R115H	SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R130H|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R92H|SLC2A14_ENST00000535295.1_Missense_Mutation_p.R6H|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R115H|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R92H			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	115					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane	glucose transmembrane transporter activity	p.R115H(1)		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)		CATTGAATTGCGCCTGTAAGG	0.458													T	7982600	C	T	7982600	3	4	332	1	0	0	0	0	1	0	0	0	14637	768	27	1	1246	1	SLC2A14	12	7982600	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		7982600	125869295	68	21996											
GRIN2B	2904	broad.mit.edu	37	chr12	13764768	13764768	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatcatcacccatacGtcagcgctgaatggctctga	13	8	7	13	2	4	2	3	2	1	0	4	2	4	2	1	1	3	2	1	1	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:13764768G>A	ENST00000609686.1	-	8	1880	c.1671C>T	c.(1669-1671)gaC>gaT	p.D557D		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCACCCATACGTCAGCGCTGA	0.448													A	13764768	G	A	13764768	2	1	332	1	0	0	0	0	0	0	0	1	6835	1136	40	1		1	GRIN2B	12	13764768	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	5782168	13764768	120087127	69	21997											
DGKA	1606	broad.mit.edu	37	chr12	56330861	56330861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatggcgagatggctaaatAtgtccaaggagatgtgagtg	12	9	16	4	1	0	3	0	1	0	2	1	6	1	4	1	4	0	1	1	4	4	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr12:56330861A>G	ENST00000331886.5	+	3	579	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	DGKA_ENST00000551156.1_Missense_Mutation_p.Y42C|DGKA_ENST00000394147.1_Missense_Mutation_p.Y42C	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	42					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ATGGCTAAATATGTCCAAGGA	0.448													G	56330861	A	G	56330861	3	3	332	1	0	0	0	0	1	0	0	0	4504	449	16	3	131	3	DGKA	12	56330861	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	42566093	56330861	77521034	70	21998											
COL4A1	1282	broad.mit.edu	37	chr13	110804777	110804777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgacactcgatgaatggcGcacttctaaactcctccagg	10	9	9	13	3	1	2	0	2	1	0	4	3	3	2	2	2	1	1	2	2	3	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr13:110804777G>A	ENST00000375820.4	-	51	4953	c.4832C>T	c.(4831-4833)gCg>gTg	p.A1611V		NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1611	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			GATGAATGGCGCACTTCTAAA	0.582													A	110804777	G	A	110804777	3	1	332	1	0	0	0	0	1	0	0	0	3720	1087	38	1	185	1	COL4A1	13	110804777	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		110804777	4365101	71	21999											
LRRC16B	90668	broad.mit.edu	37	chr14	24531941	24531941	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cggcacctgacccagctaagGacgctgtcagatccaccagg	10	5	11	15	2	1	2	1	1	0	1	2	3	2	3	4	3	1	3	4	3	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:24531941G>C	ENST00000342740.5	+	29	2746	c.2592G>C	c.(2590-2592)agG>agC	p.R864S	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	864										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		CCCAGCTAAGGACGCTGTCAG	0.627													C	24531941	G	C	24531941	3	2	332	1	0	0	0	0	1	0	0	0	9042	1165	41	4	2706	4	LRRC16B	14	24531941	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		24531941	82817599	72	22000											
KLHL28	54813	broad.mit.edu	37	chr14	45403686	45403686	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtctaaaacgcatatTccaaattcatagcgaggaat	14	13	7	7	2	2	0	1	0	1	0	3	2	3	1	1	2	2	1	1	2	6	7			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45403686T>C	ENST00000396128.4	-	3	1094	c.975A>G	c.(973-975)ggA>ggG	p.G325G	KLHL28_ENST00000355081.2_Silent_p.G339G	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	325										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAACGCATATTCCAAATTCAT	0.373													C	45403686	T	C	45403686	2	2	332	1	0	0	0	0	0	0	0	1	8440	1770	62	3		3	KLHL28	14	45403686	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	20871745	45403686	61945854	73	22001											
FANCM	57697	broad.mit.edu	37	chr14	45645432	45645432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaacagtaaaagcgaatctTtacctgtgtcagacaaaact	16	10	7	8	1	2	2	1	1	1	1	2	3	2	2	1	0	4	1	1	0	7	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr14:45645432T>G	ENST00000267430.5	+	14	3560	c.3475T>G	c.(3475-3477)Tta>Gta	p.L1159V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1133V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1159					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAGCGAATCTTTACCTGTGTC	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	45645432	T	G	45645432	3	3	332	1	0	0	0	0	1	0	0	0	5720	1838	64	5	3529	5	FANCM	14	45645432	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	241746	45645432	61704108	74	22002											
HERC2	8924	broad.mit.edu	37	chr15	28491947	28491947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgccgccagctggtagaaGcaatgctggcggccacaggc	9	5	15	12	2	0	1	0	0	0	1	0	1	0	1	3	4	4	4	3	4	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:28491947G>A	ENST00000261609.7	-	22	3440	c.3332C>T	c.(3331-3333)gCt>gTt	p.A1111V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1111					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GCTGGTAGAAGCAATGCTGGC	0.507													A	28491947	G	A	28491947	3	1	332	1	0	0	0	0	1	0	0	0	7113	971	34	2	11460	2	HERC2	15	28491947	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		28491947	74039445	75	22003											
MCTP2	55784	broad.mit.edu	37	chr15	95013576	95013576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagcacatttaactggaCggtccccttcctttcatctc	8	13	5	15	1	2	0	1	0	1	0	5	1	4	1	3	2	3	1	3	2	2	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:95013576C>T	ENST00000357742.4	+	20	2375	c.2375C>T	c.(2374-2376)aCg>aTg	p.T792M	MCTP2_ENST00000451018.3_Missense_Mutation_p.T737M	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	792					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTAACTGGACGGTCCCCTTC	0.403													T	95013576	C	T	95013576	3	4	332	1	0	0	0	0	1	0	0	0	9476	536	19	1	2529	1	MCTP2	15	95013576	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	66521629	95013576	7517816	76	22004											
PCSK6	5046	broad.mit.edu	37	chr15	101971660	101971660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcgactgttcttgtcGccacaatgctgtaagcacga	9	9	11	12	4	1	0	0	0	1	0	2	2	1	0	1	1	3	5	1	1	2	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr15:101971660G>A	ENST00000348070.1	-	5	518	c.519C>T	c.(517-519)ggC>ggT	p.G173G	PCSK6_ENST00000358417.3_Silent_p.G173G|PCSK6_ENST00000331826.7_Silent_p.G8G|PCSK6_ENST00000398181.2_Silent_p.G173G|PCSK6_ENST00000344273.2_Silent_p.G173G|PCSK6_ENST00000561177.1_5'UTR	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	174	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGTTCTTGTCGCCACAATGCT	0.552													A	101971660	G	A	101971660	2	1	332	1	0	0	0	0	0	0	0	1	11680	1074	38	1		1	PCSK6	15	101971660	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	6958084	101971660	559732	77	22005											
IL4R	3566	broad.mit.edu	37	chr16	27372137	27372137	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaaccagccaagtgcccGtatgtatctgaacttaggtc	11	9	10	11	1	1	1	0	1	1	0	2	2	1	2	3	2	4	2	3	2	6	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:27372137G>A	ENST00000395762.2	+	10	1158		c.e10+1		IL4R_ENST00000543915.2_Splice_Site|IL4R_ENST00000170630.2_Splice_Site|IL4R_ENST00000380922.3_Splice_Site|IL4R_ENST00000565915.1_Splice_Site	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor						immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CCAAGTGCCCGTATGTATCTG	0.547													A	27372137	G	A	27372137	5	1	332	1	0	0	0	0	0	0	1	0	7756	1159	40	1	948	1	IL4R	16	27372137	Splice_Site	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		27372137	62982616	78	22006											
RSPRY1	89970	broad.mit.edu	37	chr16	57238805	57238805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acacaaggagccaaccacggGaccctgttcggccaccaagg	12	3	11	15	2	0	0	0	0	0	0	1	2	0	2	5	4	2	1	5	4	3	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr16:57238805G>A	ENST00000537866.1	+	2	1108	c.235G>A	c.(235-237)Gac>Aac	p.D79N	RSPRY1_ENST00000394420.4_Missense_Mutation_p.D79N			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	79						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCAACCACGGGACCCTGTTCG	0.552													A	57238805	G	A	57238805	3	1	332	1	0	0	0	0	1	0	0	0	13804	1174	41	2	237	2	RSPRY1	16	57238805	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	29866668	57238805	33115948	79	22007											
YWHAE	7531	broad.mit.edu	37	chr17	1268267	1268267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctagctccaatcacattCttatatgcaacagataggag	13	12	6	10	0	3	1	1	0	2	1	4	2	4	2	1	1	3	2	1	1	6	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:1268267C>G	ENST00000264335.8	-	2	417	c.150G>C	c.(148-150)aaG>aaC	p.K50N	YWHAE_ENST00000573026.1_Intron|YWHAE_ENST00000575977.1_Missense_Mutation_p.K50N|YWHAE_ENST00000571732.1_Missense_Mutation_p.K28N	NM_006761.4	NP_006752.1	P62258	1433E_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon polypeptide	50					apoptosis|G2/M transition of mitotic cell cycle|induction of apoptosis by extracellular signals|interspecies interaction between organisms|intracellular signal transduction|nerve growth factor receptor signaling pathway	cytosol|melanosome	histone deacetylase binding|phosphoserine binding			kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)	14			OV - Ovarian serous cystadenocarcinoma(18;0.203)	UCEC - Uterine corpus endometrioid carcinoma (25;0.0887)		CAATCACATTCTTATATGCAA	0.423			T	"FAM22a, FAM22B"	edometrial stromal sarcoma		Miller-Dieker lissencephaly syndrome						G	1268267	C	G	1268267	3	3	332	1	0	0	0	0	1	0	0	0	17604	912	32	4	637	4	YWHAE	17	1268267	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		1268267	79926943	80	22008											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	332	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	6308854	7577121	73618089	81	22009											
TP53	7157	broad.mit.edu	37	chr17	7578191	7578191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagacctcaggcggctcatAgggcaccaccacactatgtc	10	6	9	16	1	2	1	2	0	0	1	3	1	2	1	4	3	0	2	4	3	2	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:7578191A>G	ENST00000420246.2	-	6	790	c.658T>C	c.(658-660)Tat>Cat	p.Y220H	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220H|TP53_ENST00000445888.2_Missense_Mutation_p.Y220H|TP53_ENST00000359597.4_Missense_Mutation_p.Y220H|TP53_ENST00000413465.2_Missense_Mutation_p.Y220H|TP53_ENST00000455263.2_Missense_Mutation_p.Y220H	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.Y220N(12)|p.?(11)|p.Y220H(8)|p.0?(8)|p.Y220D(2)|p.D208fs*1(1)|p.Y220_P223delYEPP(1)|p.V218_E224delVPYEPPE(1)|p.V218_E221delVPYE(1)|p.S215fs*27(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)		GGCGGCTCATAGGGCACCACC	0.552		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)			G	7578191	A	G	7578191	3	3	332	1	0	0	0	0	1	0	0	0	16482	420	15	3	636	3	TP53	17	7578191	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	1070	7578191	73617019	82	22010											
TAOK1	57551	broad.mit.edu	37	chr17	27778575	27778578	+	Frame_Shift_Del	DEL	AACT	AACT	-																															ctgctcagcaggatgccatcAactaacagagcaggcagcct																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:27778575_27778578delAACT	ENST00000261716.3	+	2	528_531	c.9_12delAACT	c.(7-12)tcaactfs	p.ST3fs	TAOK1_ENST00000536202.1_Frame_Shift_Del_p.ST3fs	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	3					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			GGATGCCATCAACTAACAGAGCAG	0.446													-	27778578	AACT	-	27778575	7	5	332	1	0	1	0	1	0	0	0	0	15644	117	5	0	11	0	TAOK1	17	27778575	Frame_Shift_Del	DEL	AACT	TCGA-DB-A64X-01A-11D-A29Q-08	20200384	27778575	53416635	83	22011											
KRT28	162605	broad.mit.edu	37	chr17	38954585	38954585	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagctcgtccaggactcGccgtaatccgttgatgtcgg	6	10	12	13	6	1	1	1	1	0	0	6	2	3	2	3	2	1	3	3	2	1	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:38954585G>A	ENST00000306658.7	-	3	657	c.592C>T	c.(592-594)Cga>Tga	p.R198*		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	198	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TCCAGGACTCGCCGTAATCCG	0.498													A	38954585	G	A	38954585	4	1	332	1	0	0	0	0	0	1	0	0	8523	1095	38	1	826	1	KRT28	17	38954585	Nonsense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	11176010	38954585	42240625	84	22012											
KRT31	3881	broad.mit.edu	37	chr17	39553720	39553720	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcagctgtggcagctGgggggcacgcagggccggga	6	4	22	9	2	0	0	0	0	0	0	0	1	0	1	1	7	3	6	1	7	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr17:39553720G>C	ENST00000251645.2	-	1	124	c.72C>G	c.(70-72)ccC>ccG	p.P24P		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	24	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TGTGGCAGCTGGGGGGCACGC	0.662													C	39553720	G	C	39553720	2	2	332	1	0	0	0	0	0	0	0	1	8525	1335	47	4		4	KRT31	17	39553720	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	599135	39553720	41641490	85	22013											
MUC16	94025	broad.mit.edu	37	chr19	9089904	9089904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccagagtcaaatctgcGgatgtctcagatgatgctgt	9	11	13	8	1	3	3	2	1	2	2	4	4	3	4	1	2	2	1	1	2	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:9089904G>A	ENST00000397910.4	-	1	2114	c.1911C>T	c.(1909-1911)tcC>tcT	p.S637S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	637	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S637S(2)		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						TCAAATCTGCGGATGTCTCAG	0.582													A	9089904	G	A	9089904	2	1	332	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC16	19	9089904	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		9089904	50039079	86	22014											
NANOS3	342977	broad.mit.edu	37	chr19	13988120	13988120	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcacacctggttagggctCtgagtgggaaagagggtcct	8	9	16	8	0	1	2	0	1	1	1	2	3	2	3	2	5	0	3	2	5	2	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:13988120C>G	ENST00000397555.2	+	1	58	c.58C>G	c.(58-60)Ctg>Gtg	p.L20V	NANOS3_ENST00000339133.5_Missense_Mutation_p.L20V|NANOS3_ENST00000591727.1_Intron	NM_001098622.2	NP_001092092.1	P60323	NANO3_HUMAN	nanos homolog 3 (Drosophila)	20					anti-apoptosis|germ cell development|multicellular organismal development|oogenesis|regulation of cell cycle|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|nucleus|stress granule	RNA binding|zinc ion binding			breast(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	7			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			GGTTAGGGCTCTGAGTGGGAA	0.617													G	13988120	C	G	13988120	3	3	332	1	0	0	0	0	1	0	0	0	10229	912	32	4	60	4	NANOS3	19	13988120	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	4898216	13988120	45140863	87	22015											
MED26	9441	broad.mit.edu	37	chr19	16689204	16689204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgacttccagcaccGccaccatgttccggatctgt	8	10	10	13	2	1	2	0	1	1	1	3	4	3	3	5	2	1	2	5	2	0	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:16689204G>A	ENST00000263390.3	-	2	351	c.89C>T	c.(88-90)gCg>gTg	p.A30V	CTC-429P9.4_ENST00000593962.1_5'UTR|CTC-429P9.4_ENST00000600705.1_3'UTR|CTD-3222D19.2_ENST00000409035.1_Missense_Mutation_p.A38V	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	30	TFIIS N-terminal.				regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TTCCAGCACCGCCACCATGTT	0.557													A	16689204	G	A	16689204	3	1	332	1	0	0	0	0	1	0	0	0	9519	1087	38	1	1721	1	MED26	19	16689204	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	2701084	16689204	42439779	88	22016											
GMIP	51291	broad.mit.edu	37	chr19	19745858	19745858	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatccagggcacggtgttcTatctcagccgtgcacttcgt	7	11	10	13	3	2	0	1	0	2	0	5	0	3	0	2	2	2	3	2	2	1	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:19745858T>G	ENST00000203556.4	-	16	1862	c.1725A>C	c.(1723-1725)atA>atC	p.I575I	GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000587238.1_Silent_p.I549I|GMIP_ENST00000445806.2_Silent_p.I546I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	575	Rho-GAP.				negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CACGGTGTTCTATCTCAGCCG	0.582													G	19745858	T	G	19745858	2	3	332	1	0	0	0	0	0	0	0	1	6547	1512	53	5		5	GMIP	19	19745858	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	3056654	19745858	39383125	89	22017											
EML2	24139	broad.mit.edu	37	chr19	46124545	46124545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacgtacagtgtgtctcCgtggccctctgccacggtgc	4	9	11	17	3	2	0	0	0	2	0	3	0	2	0	5	2	3	1	5	2	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:46124545C>T	ENST00000536630.1	-	14	1621	c.1483G>A	c.(1483-1485)Gga>Aga	p.G495R	EML2_ENST00000587152.1_Missense_Mutation_p.G549R|EML2_ENST00000245925.3_Missense_Mutation_p.G348R|EML2_ENST00000589876.1_Missense_Mutation_p.G348R	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	348					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		AGTGTGTCTCCGTGGCCCTCT	0.627													T	46124545	C	T	46124545	3	4	332	1	0	0	0	0	1	0	0	0	5138	661	23	1	943	1	EML2	19	46124545	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	26378687	46124545	13004438	90	22018											
HRC	3270	broad.mit.edu	37	chr19	49656971	49656971	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggctgccatgatgggtGcctttctctccctgctctga	3	13	10	15	1	2	2	0	2	2	0	5	2	4	2	4	2	3	2	4	2	0	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr19:49656971G>A	ENST00000252825.4	-	1	1710	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	HRC_ENST00000595625.1_Silent_p.G508G	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	508					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CATGATGGGTGCCTTTCTCTC	0.552													A	49656971	G	A	49656971	2	1	332	1	0	0	0	0	0	0	0	1	7407	1306	46	2		2	HRC	19	49656971	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	3532426	49656971	9472012	91	22019											
SIGLEC1	6614	broad.mit.edu	37	chr20	3670829	3670829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaggctggcgagcggctcGctgtccactcggcaatccag	6	7	14	14	4	1	0	1	0	0	0	5	1	3	0	2	4	1	4	2	4	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr20:3670829G>A	ENST00000344754.4	-	18	4673	c.4674C>T	c.(4672-4674)agC>agT	p.S1558S	SIGLEC1_ENST00000202578.4_Silent_p.S1558S	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1558	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						CGAGCGGCTCGCTGTCCACTC	0.652													A	3670829	G	A	3670829	2	1	332	1	0	0	0	0	0	0	0	1	14399	1078	38	1		1	SIGLEC1	20	3670829	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		3670829	59354691	92	22020											
LIPI	149998	broad.mit.edu	37	chr21	15554174	15554174	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccttggcccagcagggTcaagacctggaaagcaagaa	15	4	12	10	0	1	3	1	0	0	3	1	4	1	4	3	3	3	2	3	3	5	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:15554174T>C	ENST00000344577.2	-	4	636	c.611A>G	c.(610-612)gAc>gGc	p.D204G	LIPI_ENST00000536861.1_Missense_Mutation_p.D183G	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	183					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		CCCAGCAGGGTCAAGACCTGG	0.403													C	15554174	T	C	15554174	3	2	332	1	0	0	0	0	1	0	0	0	8886	1667	58	3	862	3	LIPI	21	15554174	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08		15554174	32575721	93	22021											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768649	31768649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagacctcctgctaccGtcccagaacctccttgctct	6	10	6	19	1	1	2	0	0	1	2	4	2	4	2	7	0	5	2	7	0	2	2			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:31768649G>A	ENST00000355459.2	+	1	258	c.245G>A	c.(244-246)cGt>cAt	p.R82H		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	82	5 X 10 AA approximate repeats.					intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCCTGCTACCGTCCCAGAACC	0.607													A	31768649	G	A	31768649	3	1	332	1	0	0	0	0	1	0	0	0	8580	1145	40	1	247	1	KRTAP13-1	21	31768649	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	16214475	31768649	16361246	94	22022											
KRTAP10-3	386682	broad.mit.edu	37	chr21	45978112	45978112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacctgcacacggggcGgcagaggagggacacggagg	9	2	21	9	3	0	1	0	0	0	1	0	5	0	5	1	9	1	2	1	9	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:45978112G>A	ENST00000391620.1	-	1	531	c.487C>T	c.(487-489)Cgc>Tgc	p.R163C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198696.2	NP_941969.2	P60369	KR103_HUMAN	keratin associated protein 10-3	163	18 X 5 AA repeats of C-C-X(3).					keratin filament				kidney(1)|lung(4)|prostate(1)|skin(1)	7						CACACGGGGCGGCAGAGGAGG	0.697													A	45978112	G	A	45978112	3	1	332	1	0	0	0	0	1	0	0	0	8568	1116	39	1	182	1	KRTAP10-3	21	45978112	Missense_Mutation	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	14209463	45978112	2151783	95	22023											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117612	46117612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgctgtgtgcctgtcTgctctggggcctcctctctg	1	14	11	15	0	4	0	0	0	4	0	6	0	5	0	4	2	3	2	4	2	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr21:46117612T>C	ENST00000400365.3	+	1	526	c.496T>C	c.(496-498)Tgc>Cgc	p.C166R	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	166	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						TGTGCCTGTCTGCTCTGGGGC	0.637													C	46117612	T	C	46117612	3	2	332	1	0	0	0	0	1	0	0	0	8566	1580	55	3	498	3	KRTAP10-12	21	46117612	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	139500	46117612	2012283	96	22024											
CCDC116	164592	broad.mit.edu	37	chr22	21988388	21988388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtgccacacccaccatcCacatgtggcagctcagcact	9	7	8	17	1	1	0	1	0	0	0	2	0	2	0	4	1	3	3	4	1	0	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:21988388C>T	ENST00000292779.3	+	3	311	c.150C>T	c.(148-150)tcC>tcT	p.S50S	CCDC116_ENST00000607942.1_Silent_p.S50S	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	50										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					ACCCACCATCCACATGTGGCA	0.607													T	21988388	C	T	21988388	2	4	332	1	0	0	0	0	0	0	0	1	2779	581	21	2		2	CCDC116	22	21988388	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08		21988388	29316178	97	22025											
MAPK1	5594	broad.mit.edu	37	chr22	22142614	22142614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtggaagagaaagcaaaTagttcctagcttttaaattt	14	14	9	4	0	0	1	0	0	0	1	1	3	1	2	1	1	2	3	1	1	7	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:22142614T>C	ENST00000215832.6	-	6	976	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	MAPK1_ENST00000544786.1_Intron|MAPK1_ENST00000398822.3_Missense_Mutation_p.Y263C	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	263	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	AGAAAGCAAATAGTTCCTAGC	0.338													C	22142614	T	C	22142614	3	2	332	1	0	0	0	0	1	0	0	0	9346	1406	49	3	306	3	MAPK1	22	22142614	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	154226	22142614	29161952	98	22026											
MCM5	4174	broad.mit.edu	37	chr22	35811941	35811941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcctggccgatggtggggtCgtctgtattgacgagtttga	5	13	16	7	3	1	2	0	2	1	0	3	4	2	2	2	4	0	2	2	4	1	3	rs143122195		TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chr22:35811941C>T	ENST00000216122.4	+	10	1477	c.1323C>T	c.(1321-1323)gtC>gtT	p.V441V	MCM5_ENST00000465557.1_3'UTR|MCM5_ENST00000382011.5_Silent_p.V398V	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	441	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						ATGGTGGGGTCGTCTGTATTG	0.587													T	35811941	C	T	35811941	2	4	332	1	0	0	0	0	0	0	0	1	9465	871	31	1		1	MCM5	22	35811941	Silent	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	13669327	35811941	15492625	99	22027											
FAM47C	442444	broad.mit.edu	37	chrX	37027824	37027824	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctcctgagactggagtGtcccatctccgcccagagcc	8	7	10	16	1	1	2	0	1	1	2	4	5	3	3	6	1	2	0	6	1	1	0			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:37027824G>T	ENST00000358047.3	+	1	1393	c.1341G>T	c.(1339-1341)gtG>gtT	p.V447V		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	447										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGACTGGAGTGTCCCATCTCC	0.632													T	37027824	G	T	37027824	2	4	332	1	0	0	0	0	0	0	0	1	5622	1364	48	4		4	FAM47C	23	37027824	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08		37027824	118242736	100	22028											
BCOR	54880	broad.mit.edu	37	chrX	39922291	39922291	+	Frame_Shift_Del	DEL	T	T	-																															cactggtggatgaaagactcTtcatgggcggagagccggag																										TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:39922291delT	ENST00000342274.4	-	9	4141	c.3779delA	c.(3778-3780)aagfs	p.K1260fs	BCOR_ENST00000397354.3_Frame_Shift_Del_p.K1260fs|BCOR_ENST00000378463.1_Frame_Shift_Del_p.K137fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.K1242fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.K1294fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1294					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGAAAGACTCTTCATGGGCGG	0.592			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39922291	T	-	39922291	7	5	332	1	0	1	0	1	0	0	0	0	1391	1609	56	0	1414	0	BCOR	23	39922291	Frame_Shift_Del	DEL	T	TCGA-DB-A64X-01A-11D-A29Q-08	2894467	39922291	115348269	101	22029											
TBC1D25	4943	broad.mit.edu	37	chrX	48418191	48418191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcgcactgaccgggccCacccctactatgcggggcct	6	7	11	17	3	0	1	0	1	0	0	0	1	0	1	5	3	4	1	5	3	3	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:48418191C>T	ENST00000376771.4	+	6	1236	c.895C>T	c.(895-897)Cac>Tac	p.H299Y	TBC1D25_ENST00000537536.1_Missense_Mutation_p.H45Y	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	299	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						TGACCGGGCCCACCCCTACTA	0.632													T	48418191	C	T	48418191	3	4	332	1	0	0	0	0	1	0	0	0	15712	594	21	2	917	2	TBC1D25	23	48418191	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	8495900	48418191	106852369	102	22030											
RLIM	51132	broad.mit.edu	37	chrX	73812349	73812349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgcctcaatgtcacatgGtgccgggttctagaacttcc	7	12	10	12	1	3	1	2	0	1	1	4	1	4	1	3	2	4	2	3	2	3	3			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:73812349G>A	ENST00000332687.6	-	4	1019	c.801C>T	c.(799-801)caC>caT	p.H267H	RLIM_ENST00000349225.2_Silent_p.H267H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	267					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGTCACATGGTGCCGGGTTC	0.438													A	73812349	G	A	73812349	2	1	332	1	0	0	0	0	0	0	0	1	13481	1252	44	2		2	RLIM	23	73812349	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	25394158	73812349	81458211	103	22031											
ARMCX2	9823	broad.mit.edu	37	chrX	100910839	100910839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttctgctctgagattgTcatagataatctcaaataga	14	13	6	8	0	4	3	2	1	3	3	5	4	4	3	0	0	1	1	0	0	4	5			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:100910839T>A	ENST00000328766.5	-	5	2189	c.1736A>T	c.(1735-1737)gAc>gTc	p.D579V	ARMCX2_ENST00000356824.4_Missense_Mutation_p.D579V|ARMCX2_ENST00000330154.2_Missense_Mutation_p.D579V	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	579						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TCTGAGATTGTCATAGATAAT	0.358													A	100910839	T	A	100910839	3	1	332	1	0	0	0	0	1	0	0	0	965	1667	58	5	166	5	ARMCX2	23	100910839	Missense_Mutation	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	27098490	100910839	54359721	104	22032											
ARMCX5	64860	broad.mit.edu	37	chrX	101857471	101857471	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtcattgaggcaaatatTaggtcctatgccaagtcaca	12	11	9	9	0	2	1	2	1	0	0	3	1	3	1	2	2	1	2	2	2	5	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:101857471T>A	ENST00000604957.1	+	1	3024	c.402T>A	c.(400-402)atT>atA	p.I134I	RP4-769N13.6_ENST00000476910.2_RNA|RP4-769N13.7_ENST00000602441.1_RNA|ARMCX5_ENST00000537008.1_Silent_p.I134I|ARMCX5_ENST00000536530.1_Silent_p.I134I|ARMCX5_ENST00000372742.1_Silent_p.I134I|ARMCX5_ENST00000541409.1_Silent_p.I134I|ARMCX5_ENST00000246174.2_Silent_p.I134I	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	134							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						AGGCAAATATTAGGTCCTATG	0.463													A	101857471	T	A	101857471	2	1	332	1	0	0	0	0	0	0	0	1	967	1742	61	5		5	ARMCX5	23	101857471	Silent	SNP	T	TCGA-DB-A64X-01A-11D-A29Q-08	946632	101857471	53413089	105	22033											
TBC1D8B	54885	broad.mit.edu	37	chrX	106109197	106109197	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactcactagctttatggAcattcagattgttagatgaa	14	13	8	6	0	2	4	2	1	0	3	2	5	2	5	0	1	1	2	0	1	5	6			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:106109197A>G	ENST00000357242.5	+	16	2770	c.2596A>G	c.(2596-2598)Aca>Gca	p.T866A	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.T860A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	866	EF-hand.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGCTTTATGGACATTCAGATT	0.368													G	106109197	A	G	106109197	3	3	332	1	0	0	0	0	1	0	0	0	15726	275	10	3	2724	3	TBC1D8B	23	106109197	Missense_Mutation	SNP	A	TCGA-DB-A64X-01A-11D-A29Q-08	4251726	106109197	49161363	106	22034											
NKAP	79576	broad.mit.edu	37	chrX	119077534	119077534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgagcccgaggcctccCtatccgggctgcgtgagccg	4	5	13	19	5	0	1	0	1	0	0	2	3	2	1	7	2	3	1	7	2	1	1			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:119077534C>A	ENST00000371410.3	-	1	201	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	12	Ser-rich.				negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CGAGGCCTCCCTATCCGGGCT	0.706													A	119077534	C	A	119077534	3	1	332	1	0	0	0	0	1	0	0	0	10515	681	24	4	1248	4	NKAP	23	119077534	Missense_Mutation	SNP	C	TCGA-DB-A64X-01A-11D-A29Q-08	12968337	119077534	36193026	107	22035											
L1CAM	3897	broad.mit.edu	37	chrX	153130307	153130307	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtgcctccttcccgtacGatggcttcaccagggccctc	6	10	9	16	2	1	0	1	0	0	0	4	1	3	0	5	2	2	2	5	2	2	4			TCGA-DB-A64X-01A-11D-A29Q-08	TCGA-DB-A64X-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc434402-b13e-4f3a-ace5-ccb1d3924f4f	96550f20-a2c9-44cc-b049-b725483fdfce	g.chrX:153130307G>T	ENST00000370060.1	-	23	3204	c.3015C>A	c.(3013-3015)atC>atA	p.I1005I	L1CAM_ENST00000543994.1_Silent_p.I1007I|L1CAM_ENST00000370057.3_Silent_p.I1005I|L1CAM_ENST00000361699.4_Silent_p.I1005I|L1CAM_ENST00000538883.1_Silent_p.I1007I|L1CAM_ENST00000370055.1_Silent_p.I1000I|L1CAM_ENST00000361981.3_Silent_p.I1000I	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1005	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCCGTACGATGGCTTCAC	0.632													T	153130307	G	T	153130307	2	4	332	1	0	0	0	0	0	0	0	1	8647	1048	37	4		4	L1CAM	23	153130307	Silent	SNP	G	TCGA-DB-A64X-01A-11D-A29Q-08	34052773	153130307	2140253	108	22036											
FUBP1	8880	broad.mit.edu	37	chr1	78429794	78429795	+	Frame_Shift_Ins	INS	-	-	TCGG																															atttctgcagcatgttgacaINStcggtctggaggtcctgtta																										TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:78429794_78429795insTCGG	ENST00000370767.1	-	12	1080_1081	c.993_994insCCGA	c.(991-996)cgatgtfs	p.C332fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.C332fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.C353fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCATGTTGACATCGGTCTGGAG	0.322			"F, N"		oligodendroglioma								TCGG	78429795	-	TCGG	78429794	7	5	333	1	0	1	1	0	0	0	0	0	6144	217	8	0	976	0	FUBP1	1	78429794	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08		78429794	170820827	1	22037											
RBM15	64783	broad.mit.edu	37	chr1	110884424	110884424	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgaagaacagcaacttTccttccaacatgcatctgtt	12	12	5	12	0	1	2	0	1	1	1	3	2	3	2	2	0	6	3	2	0	5	4			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:110884424T>G	ENST00000369784.3	+	1	3297	c.2397T>G	c.(2395-2397)ttT>ttG	p.F799L	RBM15_ENST00000487146.2_Missense_Mutation_p.F799L|RBM15_ENST00000602849.1_Missense_Mutation_p.F799L	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	799	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		ACAGCAACTTTCCTTCCAACA	0.547			T	MKL1	acute megakaryocytic leukemia								G	110884424	T	G	110884424	3	3	333	1	0	0	0	0	1	0	0	0	13204	1780	62	5	2399	5	RBM15	1	110884424	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	32454630	110884424	138366197	2	22038											
BCL9	607	broad.mit.edu	37	chr1	147092733	147092733	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccacctcaagtctccAtcacttcctgccccgtcacc	6	10	4	21	1	4	0	3	0	1	0	7	0	6	0	8	0	1	0	8	0	1	1			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:147092733A>G	ENST00000234739.3	+	8	3512	c.2772A>G	c.(2770-2772)ccA>ccG	p.P924P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	924	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TCAAGTCTCCATCACTTCCTG	0.592			T	"IGH@, IGL@"	B-ALL								G	147092733	A	G	147092733	2	3	333	1	0	0	0	0	0	0	0	1	1386	204	8	3		3	BCL9	1	147092733	Silent	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	36208309	147092733	102157888	3	22039											
CDC73	79577	broad.mit.edu	37	chr1	193111044	193111044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccaaaattatggctaagAaaagatctactatcaagact	19	9	6	7	0	2	3	1	0	1	3	2	3	2	3	1	1	2	1	1	1	10	4			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr1:193111044A>G	ENST00000367435.3	+	7	761	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	193					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TATGGCTAAGAAAAGATCTAC	0.373													G	193111044	A	G	193111044	3	3	333	1	0	0	0	0	1	0	0	0	3115	247	9	3	603	3	CDC73	1	193111044	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	46018311	193111044	56139577	4	22040											
VSNL1	7447	broad.mit.edu	37	chr2	17836522	17836522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatgaggatggcctgaCgcctgagcagcgagtagaca	13	6	14	8	2	0	5	0	4	0	1	0	7	0	6	2	2	2	2	2	2	3	1			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:17836522C>T	ENST00000406397.1	+	4	962	c.437C>T	c.(436-438)aCg>aTg	p.T146M	VSNL1_ENST00000295156.4_Missense_Mutation_p.T146M|VSNL1_ENST00000404666.2_Missense_Mutation_p.T146M			P62760	VISL1_HUMAN	visinin-like 1	146	EF-hand 4.						calcium ion binding			NS(1)|breast(1)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GATGGCCTGACGCCTGAGCAG	0.428													T	17836522	C	T	17836522	3	4	333	1	0	0	0	0	1	0	0	0	17329	536	19	1	447	1	VSNL1	2	17836522	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		17836522	225362851	5	22041											
TTC7A	57217	broad.mit.edu	37	chr2	47222318	47222318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaggaagccctcctgctcCtcctcatcagcgaatccatg	8	9	8	16	2	2	0	2	0	0	0	7	3	6	1	5	1	3	1	5	1	2	0			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:47222318C>A	ENST00000319190.5	+	8	1413	c.1045C>A	c.(1045-1047)Ctc>Atc	p.L349I	TTC7A_ENST00000409245.1_Missense_Mutation_p.L315I|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000394850.2_Missense_Mutation_p.L349I|TTC7A_ENST00000263737.6_5'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	349							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			CCTCCTGCTCCTCCTCATCAG	0.607													A	47222318	C	A	47222318	3	1	333	1	0	0	0	0	1	0	0	0	16814	681	24	4	1075	4	TTC7A	2	47222318	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	29385796	47222318	195977055	6	22042											
RIF1	55183	broad.mit.edu	37	chr2	152311623	152311623	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgccttctatgatccgaaaAatatttgcaactttaacaag	14	14	5	8	1	1	1	0	1	1	0	2	2	2	1	2	0	4	1	2	0	7	7			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:152311623A>C	ENST00000243326.5	+	21	3042	c.2559A>C	c.(2557-2559)aaA>aaC	p.K853N	RIF1_ENST00000444746.2_Missense_Mutation_p.K853N|RIF1_ENST00000453091.2_Missense_Mutation_p.K853N|RIF1_ENST00000428287.2_Missense_Mutation_p.K853N|RIF1_ENST00000430328.2_Missense_Mutation_p.K853N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGATCCGAAAAATATTTGCAA	0.333													C	152311623	A	C	152311623	3	2	333	1	0	0	0	0	1	0	0	0	13448	11	1	5	2641	5	RIF1	2	152311623	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	105089305	152311623	90887750	7	22043											
TTN	7273	broad.mit.edu	37	chr2	179433400	179433400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaggacgtccagaaattGgcacttctattttcaaatct	11	14	7	9	1	3	1	1	0	2	1	4	2	4	2	1	2	0	2	1	2	4	6			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:179433400G>A	ENST00000589042.1	-	326	77683	c.77459C>T	c.(77458-77460)cCa>cTa	p.P25820L	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16947L|TTN_ENST00000591111.1_Missense_Mutation_p.P24179L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16880L|TTN_ENST00000460472.2_Missense_Mutation_p.P16755L|TTN_ENST00000342992.6_Missense_Mutation_p.P23252L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24179	Fibronectin type-III 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCAGAAATTGGCACTTCTAT	0.433													A	179433400	G	A	179433400	3	1	333	1	0	0	0	0	1	0	0	0	16837	1348	47	2	30668	2	TTN	2	179433400	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	27121777	179433400	63765973	8	22044											
DNAH7	56171	broad.mit.edu	37	chr2	196756529	196756529	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttcttccattagcccCttaatgaaaaaaaaaaacat	16	14	3	8	0	1	1	0	1	1	0	2	1	2	1	3	0	2	1	3	0	7	6			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:196756529C>A	ENST00000312428.6	-	31	4997		c.e31-1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCATTAGCCCCTTAATGAAAA	0.313													A	196756529	C	A	196756529	5	1	333	1	0	0	0	0	0	0	1	0	4645	695	24	4	7318	4	DNAH7	2	196756529	Splice_Site	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	17323129	196756529	46442844	9	22045											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	333	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	12356583	209113112	34086261	10	22046											
CCR3	1232	broad.mit.edu	37	chr3	46307553	46307553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaacccggtgatctacGcctttgttggagagaggttc	8	11	13	9	2	1	3	0	2	1	1	2	5	1	4	2	3	2	3	2	3	2	4	rs139319342	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:46307553G>A	ENST00000357422.2	+	4	1447	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	CCR3_ENST00000395940.2_Missense_Mutation_p.A302T|CCR3_ENST00000395942.2_Missense_Mutation_p.A302T|CCR3_ENST00000541018.1_Missense_Mutation_p.A302T|CCR3_ENST00000545097.1_Missense_Mutation_p.A323T			P51677	CCR3_HUMAN	chemokine (C-C motif) receptor 3	302					cell adhesion|cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|inflammatory response|interspecies interaction between organisms|positive regulation of angiogenesis	integral to plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(3)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(193;0.00119)|KIRC - Kidney renal clear cell carcinoma(197;0.0183)|Kidney(197;0.0216)		GGTGATCTACGCCTTTGTTGG	0.537													A	46307553	G	A	46307553	3	1	333	1	0	0	0	0	1	0	0	0	2972	1087	38	1	973	1	CCR3	3	46307553	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		46307553	151714877	11	22047											
PTPN23	25930	broad.mit.edu	37	chr3	47451444	47451444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaagccgccgccacGgcccacagccccaaagccgc	12	0	11	18	4	0	2	0	0	0	2	0	3	0	2	7	1	3	0	7	1	4	0			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr3:47451444G>A	ENST00000265562.4	+	20	2233	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	PTPN23_ENST00000431726.1_Missense_Mutation_p.R593Q	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	719	Pro-rich.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CCGCCGCCACGGCCCACAGCC	0.677													A	47451444	G	A	47451444	3	1	333	1	0	0	0	0	1	0	0	0	12876	1116	39	1	2234	1	PTPN23	3	47451444	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	1143891	47451444	150570986	12	22048											
TLR10	81793	broad.mit.edu	37	chr4	38776169	38776169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttaaatattggaatttcGtaggataattcgggaaaagc	16	13	9	3	2	0	0	0	0	0	0	2	3	0	3	0	3	1	1	0	3	9	8			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:38776169G>A	ENST00000308973.4	-	4	1648	c.1043C>T	c.(1042-1044)aCg>aTg	p.T348M	TLR10_ENST00000508334.1_Missense_Mutation_p.T348M|TLR10_ENST00000361424.2_Missense_Mutation_p.T348M|TLR10_ENST00000506111.1_Missense_Mutation_p.T348M	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	348					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						TTGGAATTTCGTAGGATAATT	0.333													A	38776169	G	A	38776169	3	1	333	1	0	0	0	0	1	0	0	0	16050	1145	40	1	1396	1	TLR10	4	38776169	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		38776169	152378107	13	22049											
HMGB2	3148	broad.mit.edu	37	chr4	174254742	174254742	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttcccggcaggtctgcAcgaagaaggcgtacgaggac	9	6	14	12	4	2	1	0	0	2	1	3	4	3	2	1	4	2	4	1	4	3	2			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr4:174254742A>C	ENST00000296503.5	-	2	932	c.59T>G	c.(58-60)gTg>gGg	p.V20G	HMGB2_ENST00000438704.2_Missense_Mutation_p.V20G|HMGB2_ENST00000446922.2_Missense_Mutation_p.V20G			P26583	HMGB2_HUMAN	high mobility group box 2	20					base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		GCAGGTCTGCACGAAGAAGGC	0.577													C	174254742	A	C	174254742	3	2	333	1	0	0	0	0	1	0	0	0	7281	159	6	5	586	5	HMGB2	4	174254742	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	135478573	174254742	16899534	14	22050											
FUCA2	2519	broad.mit.edu	37	chr6	143818529	143818529	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaattccctcttacctcTgttgcccccagaatagcttt	9	14	5	13	0	2	1	0	0	2	1	3	1	3	1	4	0	3	3	4	0	5	6			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:143818529T>G	ENST00000002165.6	-	6	1315	c.1260A>C	c.(1258-1260)acA>acC	p.T420T	RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTCTTACCTCTGTTGCCCCCA	0.388													G	143818529	T	G	143818529	2	3	333	1	0	0	0	0	0	0	0	1	6147	1567	55	5		5	FUCA2	6	143818529	Silent	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08		143818529	27296538	15	22051											
LPA	4018	broad.mit.edu	37	chr6	161026077	161026077	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaagaaaatagacataCgcatttgggtagtatgctgg	14	11	12	4	1	0	2	0	0	0	2	0	2	0	2	0	3	2	5	0	3	8	6			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr6:161026077C>T	ENST00000447678.1	-	19	3066		c.e19+1		LPA_ENST00000316300.5_Splice_Site	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)						blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.?(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	AATAGACATACGCATTTGGGT	0.443													T	161026077	C	T	161026077	5	4	333	1	0	0	0	0	0	0	1	0	8973	550	19	1	3264	1	LPA	6	161026077	Splice_Site	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	17207548	161026077	10088990	16	22052											
NPC1L1	29881	broad.mit.edu	37	chr7	44579885	44579885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggttcttcccacattcGtcatagaaggcgcagtagcc	8	11	10	12	2	3	1	1	0	2	1	5	1	4	1	2	2	1	3	2	2	3	5	rs143153721		TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:44579885G>A	ENST00000289547.4	-	2	166	c.111C>T	c.(109-111)gaC>gaT	p.D37D	NPC1L1_ENST00000423141.1_Silent_p.D37D|NPC1L1_ENST00000381160.3_Silent_p.D37D|NPC1L1_ENST00000546276.1_Silent_p.D37D	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	37					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	TCCCACATTCGTCATAGAAGG	0.592													A	44579885	G	A	44579885	2	1	333	1	0	0	0	0	0	0	0	1	10647	1136	40	1		1	NPC1L1	7	44579885	Silent	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		44579885	114558778	17	22053											
FLNC	2318	broad.mit.edu	37	chr7	128482744	128482745	+	Frame_Shift_Ins	INS	-	-	G																															acggtggactgcagcgaggcINSggggcaaggtgcgcccagcc																										TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr7:128482744_128482745insG	ENST00000325888.8	+	15	2642_2643	c.2381_2382insG	c.(2380-2385)gcggggfs	p.AG794fs	FLNC_ENST00000346177.6_Frame_Shift_Ins_p.AG794fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	794					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TGCAGCGAGGCGGGGCAAGGTG	0.688													G	128482745	-	G	128482744	7	5	333	1	0	1	1	0	0	0	0	0	5984	768	27	0	2439	0	FLNC	7	128482744	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08	83902859	128482744	30655919	18	22054											
CA1	759	broad.mit.edu	37	chr8	86249204	86249204	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgactccatccactgtAtgttctgaaccatgctcatt	9	16	5	11	0	2	2	1	2	1	0	4	2	4	2	3	0	2	3	3	0	3	5			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:86249204A>G	ENST00000523953.1	-	5	1370	c.324T>C	c.(322-324)caT>caC	p.H108H	CA1_ENST00000518341.1_5'UTR|CA1_ENST00000432364.2_Silent_p.H108H|CA1_ENST00000256119.5_Silent_p.H108H|CA1_ENST00000431316.1_Silent_p.H108H|CA1_ENST00000522389.1_Intron|CA1_ENST00000523022.1_Silent_p.H108H|CA1_ENST00000542576.1_Silent_p.H108H			P00915	CAH1_HUMAN	carbonic anhydrase I	108					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	CATCCACTGTATGTTCTGAAC	0.433													G	86249204	A	G	86249204	2	3	333	1	0	0	0	0	0	0	0	1	2536	446	16	3		3	CA1	8	86249204	Silent	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08		86249204	60114818	19	22055											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119941085	119941085	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacactgcaatttgtgtgttTtctacagggtgctttagatg	8	16	11	6	0	1	1	0	0	1	1	1	2	1	1	0	1	3	3	0	1	3	6			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr8:119941085T>A	ENST00000297350.4	-	3	862	c.484A>T	c.(484-486)Aaa>Taa	p.K162*		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	162					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			TTTGTGTGTTTTCTACAGGGT	0.413													A	119941085	T	A	119941085	4	1	333	1	0	0	0	0	0	1	0	0	16385	1850	64	5	733	5	TNFRSF11B	8	119941085	Nonsense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	33691881	119941085	26422937	20	22056											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	333	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DB-A75K-01A-11D-A32B-08		139413070	1800361	21	22057											
CDHR1	92211	broad.mit.edu	37	chr10	85961671	85961671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactacatcaccgtggtcGccaaggtaacacagcaggac	12	5	9	15	2	1	0	1	0	0	0	2	1	1	1	3	3	3	2	3	3	3	2			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr10:85961671G>A	ENST00000372117.3	+	7	737	c.634G>A	c.(634-636)Gcc>Acc	p.A212T	CDHR1_ENST00000440770.2_5'UTR|CDHR1_ENST00000332904.3_Missense_Mutation_p.A212T	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	212	Cadherin 2.		A -> T.		homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CACCGTGGTCGCCAAGGTAAC	0.617													A	85961671	G	A	85961671	3	1	333	1	0	0	0	0	1	0	0	0	3148	1087	38	1	660	1	CDHR1	10	85961671	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		85961671	49573076	22	22058											
CSTF3	1479	broad.mit.edu	37	chr11	33108639	33108639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaggcactatagaaggagCtacaactgggtccggaatta	15	7	11	8	1	0	1	0	0	0	1	1	3	1	3	1	4	4	2	1	4	8	4			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:33108639C>A	ENST00000323959.4	-	18	1829	c.1690G>T	c.(1690-1692)Gct>Tct	p.A564S	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	564	Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						ATAGAAGGAGCTACAACTGGG	0.433													A	33108639	C	A	33108639	3	1	333	1	0	0	0	0	1	0	0	0	4019	797	28	4	479	4	CSTF3	11	33108639	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		33108639	101897877	23	22059											
CDC42BPG	55561	broad.mit.edu	37	chr11	64595069	64595069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacagggagccctctggAttgaggggccgcacctgagg	9	5	17	10	1	1	2	0	2	1	0	1	5	1	5	3	6	2	1	3	6	1	1			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr11:64595069A>G	ENST00000342711.5	-	32	4079	c.4080T>C	c.(4078-4080)aaT>aaC	p.N1360N		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1360	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AGCCCTCTGGATTGAGGGGCC	0.677													G	64595069	A	G	64595069	2	3	333	1	0	0	0	0	0	0	0	1	3104	330	12	3		3	CDC42BPG	11	64595069	Silent	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	31486430	64595069	70411447	24	22060											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G																															aaacaagatcggaggccgtaINSgtttattgtggtgctggaag																								rs141646579	by1000genomes	TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													G	7080211	-	G	7080210	8	5	333	1	0	1	1	0	0	0	1	0	5131	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-DB-A75K-01A-11D-A32B-08		7080210	126771685	25	22061											
HNRNPA1	3178	broad.mit.edu	37	chr12	54676979	54676979	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtggcagctatgacagcTataacaacggaggcggaggc	12	5	16	8	2	0	1	0	1	0	0	0	4	0	4	0	6	4	3	0	6	4	3			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:54676979T>G	ENST00000340913.6	+	8	921	c.868T>G	c.(868-870)Tat>Gat	p.Y290D	HNRNPA1_ENST00000546500.1_Intron|HNRNPA1_ENST00000547276.1_Intron|HNRNPA1_ENST00000330752.8_Intron|RP11-968A15.8_ENST00000553061.1_RNA	NM_002136.2|NM_031157.2	NP_002127.1|NP_112420.1	P09651	ROA1_HUMAN	heterogeneous nuclear ribonucleoprotein A1	290	Gly-rich.				interspecies interaction between organisms|mRNA transport|nuclear import	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	nucleotide binding|protein binding|single-stranded DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20						CTATGACAGCTATAACAACGG	0.552													G	54676979	T	G	54676979	3	3	333	1	0	0	0	0	1	0	0	0	7312	1522	53	5	898	5	HNRNPA1	12	54676979	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	47596769	54676979	79174916	26	22062											
UTP20	27340	broad.mit.edu	37	chr12	101720955	101720955	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtcctgcggttcctggcCgggacccaacctgaggagat	7	9	13	12	2	0	2	0	1	0	1	2	4	2	3	5	4	2	1	5	4	1	2			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:101720955C>T	ENST00000261637.4	+	26	3312	c.3138C>T	c.(3136-3138)gcC>gcT	p.A1046A		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1046					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGTTCCTGGCCGGGACCCAAC	0.478													T	101720955	C	T	101720955	2	4	333	1	0	0	0	0	0	0	0	1	17201	639	23	1		1	UTP20	12	101720955	Silent	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	47043976	101720955	32130940	27	22063											
RFX4	5992	broad.mit.edu	37	chr12	107080822	107080823	+	Frame_Shift_Ins	INS	-	-	A																															actcggaacactgctgccagINSaatttcccaatgtcaaagat																										TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr12:107080822_107080823insA	ENST00000392842.1	+	6	952_953	c.538_539insA	c.(538-540)gaafs	p.E180fs	RFX4_ENST00000229387.5_Frame_Shift_Ins_p.E86fs|RFX4_ENST00000357881.4_Frame_Shift_Ins_p.E189fs|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	180					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						ACTGCTGCCAGAATTTCCCAAT	0.5													A	107080823	-	A	107080822	7	5	333	1	0	1	1	0	0	0	0	0	13353	943	33	0	733	0	RFX4	12	107080822	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08	5359867	107080822	26771073	28	22064											
PCCA	5095	broad.mit.edu	37	chr13	100992463	100992465	+	In_Frame_Del	DEL	ATT	ATT	-																															ttattggcaatagcatcatcAttgtttgtggcattccagtt																										TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr13:100992463_100992465delATT	ENST00000376285.1	+	18	1631_1633	c.1593_1595delATT	c.(1591-1596)tcattg>tcg	p.L532del	PCCA_ENST00000376279.3_In_Frame_Del_p.L532del|PCCA_ENST00000376286.4_In_Frame_Del_p.L506del	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	532			Missing (in PA-1).		fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	TAGCATCATCATTGTTTGTGGCA	0.33													-	100992465	ATT	-	100992463	7	5	333	1	0	1	0	1	0	0	0	0	11580	204	8	0	1663	0	PCCA	13	100992463	In_Frame_Del	DEL	ATT	TCGA-DB-A75K-01A-11D-A32B-08		100992463	14177415	29	22065											
FANCI	55215	broad.mit.edu	37	chr15	89837157	89837157	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgggtaaagccaaaactaaAatggccaacaagacaagtga	19	4	10	8	1	0	2	0	1	0	1	0	2	0	2	2	2	3	1	2	2	9	2			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr15:89837157A>C	ENST00000310775.7	+	23	2471	c.2385A>C	c.(2383-2385)aaA>aaC	p.K795N	FANCI_ENST00000300027.8_Missense_Mutation_p.K795N	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	795					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCAAAACTAAAATGGCCAACA	0.363								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				C	89837157	A	C	89837157	3	2	333	1	0	0	0	0	1	0	0	0	5718	11	1	5	2471	5	FANCI	15	89837157	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08		89837157	12694235	30	22066											
ITGAM	3684	broad.mit.edu	37	chr16	31309175	31309175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaaatggggacaagctgaCggacgtggccattggggccc	9	6	16	10	3	0	1	0	1	0	0	0	3	0	3	2	6	1	2	2	6	3	2			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:31309175C>T	ENST00000544665.3	+	14	1681	c.1610C>T	c.(1609-1611)aCg>aTg	p.T537M	ITGAM_ENST00000287497.8_Missense_Mutation_p.T536M	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	536					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GACAAGCTGACGGACGTGGCC	0.622													T	31309175	C	T	31309175	3	4	333	1	0	0	0	0	1	0	0	0	7945	536	19	1	1664	1	ITGAM	16	31309175	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		31309175	59045578	31	22067											
MYLK3	91807	broad.mit.edu	37	chr16	46762982	46762982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgctctcgaaggcgtcatAgagctggatcaggttcacgt	8	11	12	10	3	4	1	3	0	1	1	5	3	4	2	0	3	2	3	0	3	2	3			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:46762982A>C	ENST00000394809.4	-	7	1841	c.1726T>G	c.(1726-1728)Tat>Gat	p.Y576D	MYLK3_ENST00000536476.1_Missense_Mutation_p.Y235D	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	576	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AAGGCGTCATAGAGCTGGATC	0.577													C	46762982	A	C	46762982	3	2	333	1	0	0	0	0	1	0	0	0	10134	420	15	5	761	5	MYLK3	16	46762982	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	15453807	46762982	43591771	32	22068											
FHOD1	29109	broad.mit.edu	37	chr16	67264350	67264350	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgtggcagaactgcatgAtgcgcacttcacgggccgcc	7	7	14	13	4	1	2	1	1	0	1	1	2	1	2	2	2	3	3	2	2	1	1			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr16:67264350A>C	ENST00000258201.4	-	19	3165	c.2918T>G	c.(2917-2919)aTc>aGc	p.I973S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	973	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAACTGCATGATGCGCACTTC	0.592													C	67264350	A	C	67264350	3	2	333	1	0	0	0	0	1	0	0	0	5931	333	12	5	592	5	FHOD1	16	67264350	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	20501368	67264350	23090403	33	22069											
ALOX15	246	broad.mit.edu	37	chr17	4542424	4542424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggtcctcgcccacagtgCggcctagaaggacagaggag	10	4	16	11	2	0	2	0	0	0	2	2	5	1	4	3	4	1	0	3	4	2	1			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:4542424C>T	ENST00000570836.1	-	4	437	c.341G>A	c.(340-342)cGc>cAc	p.R114H	ALOX15_ENST00000293761.3_Missense_Mutation_p.R114H|ALOX15_ENST00000574640.1_Missense_Mutation_p.R75H|ALOX15_ENST00000545513.1_Missense_Mutation_p.R136H			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	114	PLAT.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity	p.R114H(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GCCCACAGTGCGGCCTAGAAG	0.607													T	4542424	C	T	4542424	3	4	333	1	0	0	0	0	1	0	0	0	538	768	27	1	1695	1	ALOX15	17	4542424	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08		4542424	76652786	34	22070											
NF1	4763	broad.mit.edu	37	chr17	29684326	29684326	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagatgagtttgatcaaCgaattctttatgaatactta	14	14	6	7	1	2	4	1	3	1	1	2	5	2	4	1	0	2	1	1	0	6	6			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr17:29684326C>T	ENST00000358273.4	+	54	8292	c.7909C>T	c.(7909-7911)Cga>Tga	p.R2637*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Nonsense_Mutation_p.R430*|NF1_ENST00000356175.3_Nonsense_Mutation_p.R2616*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2637					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.R2637*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTTGATCAACGAATTCTTTA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29684326	C	T	29684326	4	4	333	1	0	0	0	0	0	1	0	0	10432	528	19	1	8184	1	NF1	17	29684326	Nonsense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	25141902	29684326	51510884	35	22071											
MC5R	4161	broad.mit.edu	37	chr18	13826400	13826400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacatgttcctcctggcGcggactcacgtcaagcggat	9	9	10	13	4	2	0	2	0	0	0	4	2	4	2	2	3	2	1	2	3	2	2			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr18:13826400G>A	ENST00000324750.3	+	1	858	c.636G>A	c.(634-636)gcG>gcA	p.A212A		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	212					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCCTGGCGCGGACTCACG	0.612													A	13826400	G	A	13826400	2	1	333	1	0	0	0	0	0	0	0	1	9442	1074	38	1		1	MC5R	18	13826400	Silent	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		13826400	64250848	36	22072											
CIC	23152	broad.mit.edu	37	chr19	42791479	42791480	+	Frame_Shift_Ins	INS	-	-	C																															gccccgccgcagcttcctctINSccatcatgtctcctgagatc																										TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:42791479_42791480insC	ENST00000572681.2	+	5	3255_3256	c.3187_3188insC	c.(3187-3189)tccfs	p.S1063fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.S154fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.S154fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	154	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCTTCCTCTCCATCATGTCT	0.609			"Mis, F, S"		oligodendroglioma								C	42791480	-	C	42791479	7	5	333	1	0	1	1	0	0	0	0	0	3454	1551	54	0	474	0	CIC	19	42791479	Frame_Shift_Ins	INS	-	TCGA-DB-A75K-01A-11D-A32B-08		42791479	16337504	37	22073											
GLTSCR1	29998	broad.mit.edu	37	chr19	48204938	48204938	+	Frame_Shift_Del	DEL	G	G	-																															tcaagatcaagcaggaagccGggctcagcaaggtcgtgcac																										TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr19:48204938delG	ENST00000396720.3	+	15	4143	c.3949delG	c.(3949-3951)gggfs	p.G1317fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	1317							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCAGGAAGCCGGGCTCAGCAA	0.721													-	48204938	G	-	48204938	7	5	333	1	0	1	0	1	0	0	0	0	6530	1116	39	0	3999	0	GLTSCR1	19	48204938	Frame_Shift_Del	DEL	G	TCGA-DB-A75K-01A-11D-A32B-08	5413459	48204938	10924045	38	22074											
EPB41L1	2036	broad.mit.edu	37	chr20	34776386	34776386	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaagatctcctacaagAggagtaacttctatatcaag	14	11	6	10	0	4	2	2	0	2	2	6	3	5	3	2	1	2	1	2	1	7	5			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:34776386A>T	ENST00000338074.2	+	9	1152	c.991A>T	c.(991-993)Agg>Tgg	p.R331W	EPB41L1_ENST00000373946.3_Missense_Mutation_p.R300W|EPB41L1_ENST00000373941.1_Missense_Mutation_p.R331W|EPB41L1_ENST00000441639.1_Missense_Mutation_p.R269W|EPB41L1_ENST00000373950.2_Missense_Mutation_p.R234W|EPB41L1_ENST00000202028.5_Missense_Mutation_p.R269W	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	331	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					CTCCTACAAGAGGAGTAACTT	0.537													T	34776386	A	T	34776386	3	4	333	1	0	0	0	0	1	0	0	0	5193	295	11	5	1021	5	EPB41L1	20	34776386	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08		34776386	28249134	39	22075											
GNAS	2778	broad.mit.edu	37	chr20	57415667	57415667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcacgctctcaagttgcGaagccccgacgcctccccaa	8	7	8	18	4	2	0	1	0	2	0	4	2	3	0	5	0	3	3	5	0	3	1			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chr20:57415667G>A	ENST00000313949.7	+	1	895	c.506G>A	c.(505-507)cGa>cAa	p.R169Q	GNAS-AS1_ENST00000598163.1_RNA|GNAS-AS1_ENST00000424094.2_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.R169Q|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.R169Q			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CTCAAGTTGCGAAGCCCCGAC	0.682			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			A	57415667	G	A	57415667	3	1	333	1	0	0	0	0	1	0	0	0	6566	1058	37	1	508	1	GNAS	20	57415667	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	22639281	57415667	5609853	40	22076											
ARSD	414	broad.mit.edu	37	chrX	2827921	2827921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacacgtccatcaggctcGtgggctctccaatcactcgg	8	8	11	14	3	3	0	2	0	1	0	7	1	4	1	2	4	1	2	2	4	2	0			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2827921G>A	ENST00000381154.1	-	8	1310	c.1235C>T	c.(1234-1236)aCg>aTg	p.T412M		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	412						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCAGGCTCGTGGGCTCTCC	0.642													A	2827921	G	A	2827921	3	1	333	1	0	0	0	0	1	0	0	0	994	1145	40	1	558	1	ARSD	23	2827921	Missense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08		2827921	152442639	41	22077											
ARSH	347527	broad.mit.edu	37	chrX	2933251	2933251	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctggttctcagtgccatGgaaggtcatctttgtctttg	5	15	11	10	1	4	0	2	0	3	0	5	1	4	1	2	3	1	2	2	3	1	3			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:2933251G>A	ENST00000381130.2	+	4	581	c.581G>A	c.(580-582)tGg>tAg	p.W194*		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	194						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TCAGTGCCATGGAAGGTCATC	0.498													A	2933251	G	A	2933251	4	1	333	1	0	0	0	0	0	1	0	0	998	1357	47	2	595	2	ARSH	23	2933251	Nonsense_Mutation	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	105330	2933251	152337309	42	22078											
DMD	1756	broad.mit.edu	37	chrX	31241162	31241162	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaatactggccaatacttAcagcaaagggccttctgcag	13	9	8	11	0	2	0	1	0	1	0	2	0	2	0	2	2	5	2	2	2	6	4			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:31241162A>T	ENST00000357033.4	-	64	9568		c.e64+1		DMD_ENST00000361471.4_Splice_Site|DMD_ENST00000378677.2_Splice_Site|DMD_ENST00000378680.2_Splice_Site|DMD_ENST00000343523.2_Splice_Site|DMD_ENST00000541735.1_Splice_Site|DMD_ENST00000474231.1_Splice_Site|DMD_ENST00000378702.4_Splice_Site|DMD_ENST00000359836.1_Splice_Site|DMD_ENST00000378707.3_Splice_Site|DMD_ENST00000378723.3_Splice_Site	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin						muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GCCAATACTTACAGCAAAGGG	0.408													T	31241162	A	T	31241162	5	4	333	1	0	0	0	0	0	0	1	0	4619	405	14	5	1848	5	DMD	23	31241162	Splice_Site	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	28307911	31241162	124029398	43	22079											
VSIG4	11326	broad.mit.edu	37	chrX	65247907	65247907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctttcaaggggtatgTcatggttgtaggtgcctcag	7	13	12	9	0	4	0	4	0	0	0	4	0	4	0	2	4	1	3	2	4	3	4			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:65247907T>C	ENST00000455586.2	-	4	868	c.742A>G	c.(742-744)Aca>Gca	p.T248A	VSIG4_ENST00000412866.2_Missense_Mutation_p.T154A|VSIG4_ENST00000374737.4_Missense_Mutation_p.T248A	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	248					complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAGGGGTATGTCATGGTTGTA	0.458													C	65247907	T	C	65247907	3	2	333	1	0	0	0	0	1	0	0	0	17327	1667	58	3	481	3	VSIG4	23	65247907	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	34006745	65247907	90022653	44	22080											
YIPF6	286451	broad.mit.edu	37	chrX	67751800	67751800	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctgttttcctgttttacTttgtcatcagttggatgatt	6	21	7	7	0	2	1	2	1	0	0	4	2	4	2	2	1	1	3	2	1	1	7			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:67751800T>A	ENST00000462683.1	+	7	1414	c.670T>A	c.(670-672)Ttt>Att	p.F224I	YIPF6_ENST00000374622.2_Missense_Mutation_p.F181I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	224						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						CCTGTTTTACTTTGTCATCAG	0.403													A	67751800	T	A	67751800	3	1	333	1	0	0	0	0	1	0	0	0	17584	1609	56	5	696	5	YIPF6	23	67751800	Missense_Mutation	SNP	T	TCGA-DB-A75K-01A-11D-A32B-08	2503893	67751800	87518760	45	22081											
TAF1	6872	broad.mit.edu	37	chrX	70607290	70607290	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccaaaagggccaatacGcatattcgagactttctaca	15	9	6	11	2	1	1	0	0	1	1	3	2	2	1	2	1	3	1	2	1	7	5			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:70607290G>A	ENST00000449580.1	+	15	2454	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	TAF1_ENST00000276072.3_Silent_p.T822T|TAF1_ENST00000373790.4_Silent_p.T801T|TAF1_ENST00000423759.1_Silent_p.T822T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	801					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.T801T(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGCCAATACGCATATTCGAG	0.493													A	70607290	G	A	70607290	2	1	333	1	0	0	0	0	0	0	0	1	15610	1074	38	1		1	TAF1	23	70607290	Silent	SNP	G	TCGA-DB-A75K-01A-11D-A32B-08	2855490	70607290	84663270	46	22082											
CYLC1	1538	broad.mit.edu	37	chrX	83126517	83126517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgctttgacatttcccaAaccactccagagaggtacaa	12	11	6	12	0	0	2	0	1	0	1	2	3	2	2	3	1	3	2	3	1	3	4			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:83126517A>G	ENST00000329312.4	+	3	153	c.116A>G	c.(115-117)aAa>aGa	p.K39R		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	39					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						ACATTTCCCAAACCACTCCAG	0.303													G	83126517	A	G	83126517	3	3	333	1	0	0	0	0	1	0	0	0	4174	14	1	3	126	3	CYLC1	23	83126517	Missense_Mutation	SNP	A	TCGA-DB-A75K-01A-11D-A32B-08	12519227	83126517	72144043	47	22083											
ZIC3	7547	broad.mit.edu	37	chrX	136649636	136649636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgacgaggctcagctgagCcggcccaagaagagctgcga	11	4	14	12	4	1	3	1	1	0	2	2	6	1	3	2	2	4	3	2	2	2	0			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:136649636C>T	ENST00000287538.5	+	1	1336	c.786C>T	c.(784-786)agC>agT	p.S262S	ZIC3_ENST00000370606.3_Silent_p.S262S	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	262					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CTCAGCTGAGCCGGCCCAAGA	0.632													T	136649636	C	T	136649636	2	4	333	1	0	0	0	0	0	0	0	1	17781	738	26	2		2	ZIC3	23	136649636	Silent	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	53523119	136649636	18620924	48	22084											
SLITRK4	139065	broad.mit.edu	37	chrX	142716809	142716809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaaacatgaacccagtttCtgactctttcaagccacaag	14	10	6	11	0	3	3	1	3	2	0	3	3	3	3	2	0	3	1	2	0	5	2			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:142716809C>T	ENST00000381779.4	-	2	2341	c.2116G>A	c.(2116-2118)Gaa>Aaa	p.E706K	SLITRK4_ENST00000338017.4_Missense_Mutation_p.E706K|SLITRK4_ENST00000356928.1_Missense_Mutation_p.E706K	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	706						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAGTTTCTGACTCTTTC	0.408													T	142716809	C	T	142716809	3	4	333	1	0	0	0	0	1	0	0	0	14839	922	32	2	401	2	SLITRK4	23	142716809	Missense_Mutation	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	6067173	142716809	12553751	49	22085											
DNASE1L1	1774	broad.mit.edu	37	chrX	153631307	153631307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcggtgagctggaagctCgtggggaagtcaaaggcagc	9	7	16	9	2	1	1	1	1	0	0	4	3	2	3	1	5	3	3	1	5	3	0			TCGA-DB-A75K-01A-11D-A32B-08	TCGA-DB-A75K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b3788075-215e-4535-b4bd-cc40fdaf52aa	fed87034-a0a0-4c98-a951-f1a46983aba5	g.chrX:153631307C>T	ENST00000369809.1	-	9	1379	c.750G>A	c.(748-750)acG>acA	p.T250T	DNASE1L1_ENST00000393638.1_Silent_p.T250T	NM_001009932.1	NP_001009932.1	P49184	DNSL1_HUMAN	deoxyribonuclease I-like 1	250					DNA catabolic process	endoplasmic reticulum	DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			lung(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTGGAAGCTCGTGGGGAAGT	0.682													T	153631307	C	T	153631307	2	4	333	1	0	0	0	0	0	0	0	1	4700	871	31	1		1	DNASE1L1	23	153631307	Silent	SNP	C	TCGA-DB-A75K-01A-11D-A32B-08	10914498	153631307	1639253	50	22086											
CYP4A22	284541	broad.mit.edu	37	chr1	47603305	47603305	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgctcaaagccctccagCagttcccgtgccctccctcc	5	8	8	20	1	1	0	1	0	0	0	5	0	5	0	6	1	4	4	6	1	1	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:47603305C>T	ENST00000371891.3	+	1	179	c.148C>T	c.(148-150)Cag>Tag	p.Q50*	CYP4A22_ENST00000294337.3_Nonsense_Mutation_p.Q50*|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Nonsense_Mutation_p.Q50*|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	50						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGCCCTCCAGCAGTTCCCGTG	0.617													T	47603305	C	T	47603305	4	4	334	1	0	0	0	0	0	1	0	0	4217	711	25	2	150	2	CYP4A22	1	47603305	Nonsense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		47603305	201647316	1	22087											
KIAA0907	22889	broad.mit.edu	37	chr1	155899562	155899562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgagaggcacatcattaaTttctacttcagctaccacca	12	12	6	11	0	3	1	2	1	1	1	3	2	3	1	2	1	3	2	2	1	3	5			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr1:155899562T>C	ENST00000368320.3	-	3	350	c.325A>G	c.(325-327)Att>Gtt	p.I109V	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.I109V|KIAA0907_ENST00000368319.3_Missense_Mutation_p.I109V			Q7Z7F0	K0907_HUMAN	KIAA0907	109										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			ACATCATTAATTTCTACTTCA	0.458													C	155899562	T	C	155899562	3	2	334	1	0	0	0	0	1	0	0	0	8257	1493	52	3	1567	3	KIAA0907	1	155899562	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	108296257	155899562	93351059	2	22088											
C2orf16	84226	broad.mit.edu	37	chr2	27799757	27799757	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagagtgaaatatggggaGcaaactccaagaacaaatta	20	6	9	6	0	0	3	0	1	0	2	1	4	1	4	1	2	3	1	1	2	8	2			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:27799757G>A	ENST00000408964.2	+	1	369	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	106										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AATATGGGGAGCAAACTCCAA	0.413													A	27799757	G	A	27799757	2	1	334	1	0	0	0	0	0	0	0	1	2178	962	34	2		2	C2orf16	2	27799757	Silent	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		27799757	215399616	3	22089											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44031782	44031782	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaacttgctattttaggAtctcctcctgttcctgaaaa	11	15	6	9	0	1	1	0	1	1	0	4	2	3	2	3	1	2	3	3	1	6	6			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:44031782A>T	ENST00000260605.8	+	11	904	c.804A>T	c.(802-804)ggA>ggT	p.G268G	DYNC2LI1_ENST00000605786.1_Splice_Site_p.G269G|DYNC2LI1_ENST00000443170.3_Splice_Site_p.G142G	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	268						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTATTTTAGGATCTCCTCCTG	0.368													T	44031782	A	T	44031782	5	4	334	1	0	0	0	0	0	0	1	0	4886	347	12	5	945	5	DYNC2LI1	2	44031782	Splice_Site	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	16232025	44031782	199167591	4	22090											
TSPYL6	388951	broad.mit.edu	37	chr2	54482297	54482297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggggtccatggccccggCgccacatgattagagtggaa	9	7	14	11	2	0	2	0	1	0	1	1	3	1	3	4	5	0	0	4	5	2	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:54482297C>T	ENST00000317802.7	-	1	1112	c.992G>A	c.(991-993)cGc>cAc	p.R331H	ACYP2_ENST00000607452.1_Intron|ACYP2_ENST00000606865.1_Intron|ACYP2_ENST00000394666.3_Intron|ACYP2_ENST00000303536.4_Intron	NM_001003937.2	NP_001003937.2	Q8N831	TSYL6_HUMAN	TSPY-like 6	331					nucleosome assembly	nucleus				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(1)|ovary(1)|skin(1)|stomach(2)	20						ATGGCCCCGGCGCCACATGAT	0.493													T	54482297	C	T	54482297	3	4	334	1	0	0	0	0	1	0	0	0	16764	768	27	1	244	1	TSPYL6	2	54482297	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	10450515	54482297	188717076	5	22091											
SFTPB	6439	broad.mit.edu	37	chr2	85892817	85892817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtctggcagagggtccCgcagaggtttgggcaggggg	6	6	22	7	1	1	2	0	0	1	2	2	3	2	2	1	7	0	4	1	7	0	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:85892817C>T	ENST00000393822.3	-	6	629	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000342375.3_Missense_Mutation_p.R165Q|SFTPB_ENST00000519937.2_Missense_Mutation_p.R165Q			P07988	PSPB_HUMAN	surfactant protein B	165					organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		p.R165Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGGGTCCCGCAGAGGTTT	0.667													T	85892817	C	T	85892817	3	4	334	1	0	0	0	0	1	0	0	0	14284	652	23	1	675	1	SFTPB	2	85892817	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	31410520	85892817	157306556	6	22092											
RBMS1	5937	broad.mit.edu	37	chr2	161135075	161135075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactgttccggtgctgcctAgtgacagatgactcatctgc	7	12	10	12	1	2	3	1	2	1	1	3	3	3	3	2	1	4	2	2	1	2	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:161135075A>G	ENST00000348849.3	-	11	1476	c.1046T>C	c.(1045-1047)cTa>cCa	p.L349P	RBMS1_ENST00000409289.2_Missense_Mutation_p.L313P|RBMS1_ENST00000392753.3_Missense_Mutation_p.L362P|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409972.1_Missense_Mutation_p.L313P|RBMS1_ENST00000409075.1_Missense_Mutation_p.L313P	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	349					DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								GGTGCTGCCTAGTGACAGATG	0.498											OREG0015036	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	161135075	A	G	161135075	3	3	334	1	0	0	0	0	1	0	0	0	13236	420	15	3	186	3	RBMS1	2	161135075	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	75242258	161135075	82064298	7	22093											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	334	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	47978037	209113112	34086261	8	22094											
DHX36	170506	broad.mit.edu	37	chr3	154032922	154032922	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttccatctggttcattttcTtgcaagagatactcagaatc	10	15	7	9	0	4	2	2	0	2	2	6	3	5	2	1	1	2	3	1	1	3	6			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr3:154032922T>C	ENST00000496811.1	-	3	596	c.516A>G	c.(514-516)caA>caG	p.Q172Q	DHX36_ENST00000544526.1_Silent_p.Q172Q|DHX36_ENST00000308361.6_Silent_p.Q172Q|DHX36_ENST00000329463.5_Silent_p.Q172Q	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	172						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			GTTCATTTTCTTGCAAGAGAT	0.308													C	154032922	T	C	154032922	2	2	334	1	0	0	0	0	0	0	0	1	4548	1606	56	3		3	DHX36	3	154032922	Silent	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08		154032922	43989508	9	22095											
EPHA5	2044	broad.mit.edu	37	chr4	66231755	66231755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtatgtggatcaatgtaagTtcttactcctggcagtttaa	10	15	10	6	0	2	0	1	0	1	0	3	1	3	1	1	3	1	5	1	3	5	6			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:66231755T>C	ENST00000273854.3	-	11	2545	c.1945A>G	c.(1945-1947)Act>Gct	p.T649A	EPHA5_ENST00000511294.1_Missense_Mutation_p.T650A|EPHA5_ENST00000432638.2_Missense_Mutation_p.T486A|EPHA5_ENST00000354839.4_Missense_Mutation_p.T627A	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	649					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TCAATGTAAGTTCTTACTCCT	0.353										TSP Lung(17;0.13)			C	66231755	T	C	66231755	3	2	334	1	0	0	0	0	1	0	0	0	5211	1725	60	3	1200	3	EPHA5	4	66231755	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08		66231755	124922521	10	22096											
TLL1	7092	broad.mit.edu	37	chr4	166935596	166935596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctttttttcagggggatgtTtctggataccattctcccct	5	17	9	10	0	3	0	1	0	2	0	4	2	3	2	3	3	1	2	3	3	1	6			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr4:166935596T>C	ENST00000061240.2	+	8	1573	c.926T>C	c.(925-927)tTt>tCt	p.F309S	TLL1_ENST00000507499.1_Missense_Mutation_p.F309S|TLL1_ENST00000513213.1_Missense_Mutation_p.F309S	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	309	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		AGGGGGATGTTTCTGGATACC	0.418													C	166935596	T	C	166935596	3	2	334	1	0	0	0	0	1	0	0	0	16045	1841	64	3	956	3	TLL1	4	166935596	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	100703841	166935596	24218680	11	22097											
AHRR	57491	broad.mit.edu	37	chr5	353938	353938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggccagcctgctgccGttcccgcctgacatcatctc	5	9	8	19	2	2	1	1	1	1	0	4	1	3	1	6	1	3	2	6	1	0	1	rs150312721	by1000genomes	TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:353938G>A	ENST00000316418.5	+	3	212	c.168G>A	c.(166-168)ccG>ccA	p.P56P	AHRR_ENST00000512529.1_Intron|AHRR_ENST00000505113.1_Silent_p.P56P|AHRR_ENST00000515206.1_Silent_p.P52P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	56	Helix-loop-helix motif.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCTGCTGCCGTTCCCGCCTG	0.627													A	353938	G	A	353938	2	1	334	1	0	0	0	0	0	0	0	1	417	1132	40	1		1	AHRR	5	353938	Silent	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		353938	180561322	12	22098											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747904	148747904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaagcagccccaggaggCagctgtttggcgagtccagt	9	6	15	11	2	0	0	0	0	0	0	1	3	1	1	3	3	3	4	3	3	1	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr5:148747904C>G	ENST00000514349.1	+	5	1481	c.902C>G	c.(901-903)gCa>gGa	p.A301G	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.A391G			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	391					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCCAGGAGGCAGCTGTTTGG	0.567											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	148747904	C	G	148747904	3	3	334	1	0	0	0	0	1	0	0	0	11685	710	25	4	1194	4	PCYOX1L	5	148747904	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	148393966	148747904	32167356	13	22099											
TNXB	7148	broad.mit.edu	37	chr6	32037587	32037587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctcctcccccagaCggggttttgggggacgcttt	4	10	13	14	2	0	1	0	0	0	1	2	2	2	2	4	4	2	4	4	4	0	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:32037587C>T	ENST00000375244.3	-	15	5531	c.5330G>A	c.(5329-5331)cGt>cAt	p.R1777H	TNXB_ENST00000375247.2_Missense_Mutation_p.R1777H			P22105	TENX_HUMAN	tenascin XB	1859	Fibronectin type-III 10.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R1864H(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCCCCCAGACGGGGTTTTGG	0.582													T	32037587	C	T	32037587	3	4	334	1	0	0	0	0	1	0	0	0	16446	536	19	1	9503	1	TNXB	6	32037587	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		32037587	139077480	14	22100											
GRIK2	2898	broad.mit.edu	37	chr6	102074501	102074501	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtcacggttgtgtatgAtgacagcactggtaagaaaa	14	9	11	7	2	1	3	1	2	0	1	1	3	1	3	1	2	2	4	1	2	5	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr6:102074501A>T	ENST00000369138.1	+	3	1020	c.530A>T	c.(529-531)gAt>gTt	p.D177V	GRIK2_ENST00000369137.3_Missense_Mutation_p.D177V|GRIK2_ENST00000421544.1_Missense_Mutation_p.D177V|GRIK2_ENST00000413795.1_Missense_Mutation_p.D177V|GRIK2_ENST00000318991.6_Missense_Mutation_p.D177V|GRIK2_ENST00000358361.3_Missense_Mutation_p.D177V|GRIK2_ENST00000369134.4_Missense_Mutation_p.D128V	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	177					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTTGTGTATGATGACAGCACT	0.398													T	102074501	A	T	102074501	3	4	334	1	0	0	0	0	1	0	0	0	6829	333	12	5	540	5	GRIK2	6	102074501	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	70036914	102074501	69040566	15	22101											
ZAN	7455	broad.mit.edu	37	chr7	100364680	100364680	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccccactacctgaccttcGatggcgccttgcaccacttc	7	9	6	19	2	0	1	0	1	0	0	2	2	0	1	6	1	2	1	6	1	1	4			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr7:100364680G>A	ENST00000542585.1	+	0	4808				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCTGACCTTCGATGGCGCCTT	0.597													A	100364680	G	A	100364680	1	1	334	0	1	0	0	0	0	0	0	0	17615	1058	37	1		1	ZAN	7	100364680	RNA	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		100364680	58773983	16	22102											
RGS3	5998	broad.mit.edu	37	chr9	116357880	116357880	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccgttctcctcacagaCgggttagcagtgttccaagc	8	10	11	12	2	2	1	1	0	1	1	5	2	4	2	3	2	2	4	3	2	2	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr9:116357880C>T	ENST00000374140.2	+	25	3455	c.3246C>T	c.(3244-3246)taC>taT	p.Y1082Y	RGS3_ENST00000462403.1_Splice_Site_p.Y195Y|RGS3_ENST00000350696.5_Splice_Site_p.Y1082Y|RGS3_ENST00000342620.5_Splice_Site_p.Y52Y|RGS3_ENST00000462143.1_Splice_Site_p.Y403Y|RGS3_ENST00000374134.3_Splice_Site_p.Y403Y|RGS3_ENST00000343817.5_Splice_Site_p.Y801Y|RGS3_ENST00000394646.3_Splice_Site_p.Y475Y	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1082	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCTCACAGACGGGTTAGCAG	0.522													T	116357880	C	T	116357880	5	4	334	1	0	0	0	0	0	0	1	0	13395	550	19	1	4016	1	RGS3	9	116357880	Splice_Site	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		116357880	24855551	17	22103											
MMP10	4319	broad.mit.edu	37	chr11	102651240	102651240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaagatccttgttggagTcctcctcttttgctgcccca	5	13	10	13	0	1	1	0	0	1	1	4	2	4	2	5	2	2	3	5	2	1	4			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:102651240T>C	ENST00000279441.4	-	1	119	c.83A>G	c.(82-84)gAc>gGc	p.D28G		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	28					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTTGTTGGAGTCCTCCTCTTT	0.488													C	102651240	T	C	102651240	3	2	334	1	0	0	0	0	1	0	0	0	9724	1667	58	3	1387	3	MMP10	11	102651240	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08		102651240	32355276	18	22104											
PPP2R1B	5519	broad.mit.edu	37	chr11	111613388	111613388	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaggcctcagacagtGcctagaaaaataagtaagat	17	6	9	9	0	1	3	1	0	0	3	1	4	1	3	3	1	1	1	3	1	5	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:111613388G>A	ENST00000527614.1	-	13	1621	c.1556C>T	c.(1555-1557)gCa>gTa	p.A519V	PPP2R1B_ENST00000426998.2_Splice_Site_p.A455V|PPP2R1B_ENST00000427203.2_Splice_Site_p.A358V|PPP2R1B_ENST00000393055.2_Splice_Site_p.A392V|PPP2R1B_ENST00000341980.6_Splice_Site_p.A474V|PPP2R1B_ENST00000311129.5_Splice_Site_p.A519V	NM_001177562.1|NM_002716.4	NP_001171033.1|NP_002707.3	P30154	2AAB_HUMAN	protein phosphatase 2, regulatory subunit A, beta	519							protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|liver(1)|lung(10)|prostate(1)|urinary_tract(2)	22		all_cancers(61;2.34e-15)|all_epithelial(67;1.72e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|Epithelial(105;2.36e-06)|all cancers(92;3.78e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0761)		CTCAGACAGTGCCTAGAAAAA	0.323													A	111613388	G	A	111613388	5	1	334	1	0	0	0	0	0	0	1	0	12465	1333	46	2	484	2	PPP2R1B	11	111613388	Splice_Site	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	8962148	111613388	23393128	19	22105											
NRGN	4900	broad.mit.edu	37	chr11	124615509	124615509	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttcggggccacatggcGcggaagaagataaagagcgg	12	6	16	7	4	0	3	0	0	0	3	1	4	0	4	1	5	1	1	1	5	4	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:124615509G>A	ENST00000284292.6	+	2	365	c.126G>A	c.(124-126)gcG>gcA	p.A42A	RP11-677M14.2_ENST00000531241.1_RNA|NRGN_ENST00000412681.2_Silent_p.A42A	NM_001126181.1|NM_006176.2	NP_001119653.1|NP_006167.1	Q92686	NEUG_HUMAN	neurogranin (protein kinase C substrate, RC3)		IQ.				nervous system development|signal transduction		calmodulin binding					all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		GCCACATGGCGCGGAAGAAGA	0.726													A	124615509	G	A	124615509	2	1	334	1	0	0	0	0	0	0	0	1	10727	1074	38	1		1	NRGN	11	124615509	Silent	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	13002121	124615509	10391007	20	22106											
KCNJ5	3762	broad.mit.edu	37	chr11	128781260	128781260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccaaaacaggcccgcgAttatgtccccattgccacag	11	8	8	14	2	0	0	0	0	0	0	2	2	2	0	5	1	2	0	5	1	3	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr11:128781260A>G	ENST00000529694.1	+	2	468	c.92A>G	c.(91-93)gAt>gGt	p.D31G	KCNJ5_ENST00000533599.1_Missense_Mutation_p.D31G|KCNJ5_ENST00000338350.4_Missense_Mutation_p.D31G	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	31					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	CAGGCCCGCGATTATGTCCCC	0.577													G	128781260	A	G	128781260	3	3	334	1	0	0	0	0	1	0	0	0	8112	333	12	3	94	3	KCNJ5	11	128781260	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	4165751	128781260	6225256	21	22107											
APOBEC1	339	broad.mit.edu	37	chr12	7803711	7803711	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccaggtgggtagttgaCaaaattcctccagcagtgat	11	10	10	10	0	0	2	0	2	0	0	3	2	3	2	4	2	1	3	4	2	3	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:7803711C>G	ENST00000229304.4	-	4	489	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	157					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						GGGTAGTTGACAAAATTCCTC	0.438													G	7803711	C	G	7803711	3	3	334	1	0	0	0	0	1	0	0	0	790	478	17	4	249	4	APOBEC1	12	7803711	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		7803711	126048184	22	22108											
SLCO1B3	28234	broad.mit.edu	37	chr12	21033840	21033840	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttcttattgcaactcAgagtgcaattgtgatgaaag	12	13	8	8	0	2	3	1	2	1	1	2	3	2	3	1	0	3	2	1	0	4	4			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:21033840A>C	ENST00000381545.3	+	12	1602	c.1383A>C	c.(1381-1383)tcA>tcC	p.S461S	SLCO1B3_ENST00000553473.1_Silent_p.S461S|LST3_ENST00000540229.1_Silent_p.S461S|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Silent_p.S461S	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	461	Kazal-like.				bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATTGCAACTCAGAGTGCAATT	0.373													C	21033840	A	C	21033840	2	2	334	1	0	0	0	0	0	0	0	1	14818	175	7	5		5	SLCO1B3	12	21033840	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	13230129	21033840	112818055	23	22109											
KIF5A	3798	broad.mit.edu	37	chr12	57976954	57976954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaccaagagacagcaGccagctaatctcccacaccc	12	5	5	19	0	2	1	0	0	2	1	4	2	2	1	5	0	3	2	5	0	2	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:57976954G>T	ENST00000455537.2	+	28	3365	c.3091G>T	c.(3091-3093)Gcc>Tcc	p.A1031S	KIF5A_ENST00000286452.5_Missense_Mutation_p.A942S	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	1031	Globular.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGAGACAGCAGCCAGCTAATC	0.582											OREG0021947	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	57976954	G	T	57976954	3	4	334	1	0	0	0	0	1	0	0	0	8363	971	34	4	3201	4	KIF5A	12	57976954	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	36943114	57976954	75874941	24	22110											
TMTC2	160335	broad.mit.edu	37	chr12	83251282	83251282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggaacaaggagtgactgttCtcgcagtttcagcagtttat	11	12	11	7	1	2	1	1	1	1	0	3	3	2	3	0	2	2	5	0	2	3	4			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr12:83251282C>T	ENST00000549919.1	+	3	2364	c.559C>T	c.(559-561)Ctc>Ttc	p.L187F	TMTC2_ENST00000321196.3_Missense_Mutation_p.L193F|TMTC2_ENST00000548305.1_Missense_Mutation_p.L193F			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	193						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGTGACTGTTCTCGCAGTTTC	0.458													T	83251282	C	T	83251282	3	4	334	1	0	0	0	0	1	0	0	0	16361	913	32	2	583	2	TMTC2	12	83251282	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	25274328	83251282	50600613	25	22111											
OR4M1	441670	broad.mit.edu	37	chr14	20248553	20248553	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagactcgggaggtccaActagtcctatttgttatatt	9	14	8	10	1	0	1	0	0	0	1	4	2	3	2	3	2	1	1	3	2	5	6			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:20248553A>G	ENST00000315957.4	+	1	153	c.72A>G	c.(70-72)caA>caG	p.Q24Q		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGGAGGTCCAACTAGTCCTAT	0.383													G	20248553	A	G	20248553	2	3	334	1	0	0	0	0	0	0	0	1	11151	40	2	3		3	OR4M1	14	20248553	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08		20248553	87100987	26	22112											
SYNE2	23224	broad.mit.edu	37	chr14	64548243	64548243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccagtcatttgctggccaAtcctgctgactatgactctt	8	14	7	12	0	2	2	1	2	1	0	3	2	3	2	3	1	3	2	3	1	3	4			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:64548243A>G	ENST00000357395.3	+	57	11659	c.515A>G	c.(514-516)aAt>aGt	p.N172S	SYNE2_ENST00000394768.2_Missense_Mutation_p.N172S|SYNE2_ENST00000344113.4_Missense_Mutation_p.N3810S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N3843S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N444S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N3810S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3810	Actin-binding.				centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TTGCTGGCCAATCCTGCTGAC	0.463													G	64548243	A	G	64548243	3	3	334	1	0	0	0	0	1	0	0	0	15543	101	4	3	11651	3	SYNE2	14	64548243	Missense_Mutation	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	44299690	64548243	42801297	27	22113											
ARG2	384	broad.mit.edu	37	chr14	68112389	68112389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtaccattagtggccatgCccgacactgcccagaccttt	8	9	9	15	2	0	1	0	0	0	1	0	2	0	1	5	2	3	1	5	2	2	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr14:68112389C>T	ENST00000261783.3	+	4	572	c.392C>T	c.(391-393)gCc>gTc	p.A131V	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	131					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	AGTGGCCATGCCCGACACTGC	0.507													T	68112389	C	T	68112389	3	4	334	1	0	0	0	0	1	0	0	0	861	739	26	2	406	2	ARG2	14	68112389	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	3564146	68112389	39237151	28	22114											
KIAA0101	9768	broad.mit.edu	37	chr15	64673229	64673229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctttctgggggctcgagCagccaccactgtgaagagag	9	7	13	12	1	1	2	0	1	1	1	2	4	1	2	3	2	2	2	3	2	1	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr15:64673229C>T	ENST00000300035.4	-	2	193	c.55G>A	c.(55-57)Gct>Act	p.A19T	KIAA0101_ENST00000558008.1_Missense_Mutation_p.A19T|KIAA0101_ENST00000380258.2_Missense_Mutation_p.A19T|KIAA0101_ENST00000559519.1_Intron	NM_014736.4	NP_055551.1	Q15004	PAF_HUMAN	KIAA0101	19						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GGGGCTCGAGCAGCCACCACT	0.557													T	64673229	C	T	64673229	3	4	334	1	0	0	0	0	1	0	0	0	8213	710	25	2	317	2	KIAA0101	15	64673229	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		64673229	37858163	29	22115											
GDE1	51573	broad.mit.edu	37	chr16	19516377	19516377	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggctccaaggtctgtgaGttaatgctgttattacatcc	9	15	9	8	0	1	1	0	1	1	0	3	1	3	1	2	2	2	4	2	2	5	4			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr16:19516377G>C	ENST00000353258.3	-	5	854	c.674C>G	c.(673-675)aCt>aGt	p.T225S		NM_016641.3	NP_057725.1	Q9NZC3	GDE1_HUMAN	glycerophosphodiester phosphodiesterase 1	225	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol glycerophosphodiesterase activity|metal ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	13						AGGTCTGTGAGTTAATGCTGT	0.353													C	19516377	G	C	19516377	3	2	334	1	0	0	0	0	1	0	0	0	6365	1029	36	4	329	4	GDE1	16	19516377	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		19516377	70838376	30	22116											
OR1E2	8388	broad.mit.edu	37	chr17	3336736	3336736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaggaggaagcagatggCggtgtagtgcatggggaagc	10	6	20	5	1	0	1	0	0	0	1	0	4	0	4	0	6	4	4	0	6	3	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:3336736C>T	ENST00000248384.1	-	1	399	c.400G>A	c.(400-402)Gcc>Acc	p.A134T		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	134					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						AAGCAGATGGCGGTGTAGTGC	0.547													T	3336736	C	T	3336736	3	4	334	1	0	0	0	0	1	0	0	0	11031	768	27	1	574	1	OR1E2	17	3336736	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08		3336736	77858474	31	22117											
TP53	7157	broad.mit.edu	37	chr17	7577118	7577118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaggacaggcacaaaCacgcacctcaaagctgttcc	12	6	7	16	1	2	0	1	0	1	0	4	1	3	1	3	2	2	4	3	2	2	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:7577118C>A	ENST00000420246.2	-	8	952	c.820G>T	c.(820-822)Gtt>Ttt	p.V274F	TP53_ENST00000455263.2_Missense_Mutation_p.V274F|TP53_ENST00000445888.2_Missense_Mutation_p.V274F|TP53_ENST00000269305.4_Missense_Mutation_p.V274F|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.V274F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274F(21)|p.V274L(11)|p.0?(8)|p.V274I(4)|p.?(2)|p.R273_C275delRVC(1)|p.V274fs*71(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAGGCACAAACACGCACCTCA	0.552		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)			A	7577118	C	A	7577118	3	1	334	1	0	0	0	0	1	0	0	0	16482	478	17	4	466	4	TP53	17	7577118	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	4240382	7577118	73618092	32	22118											
MYH2	4620	broad.mit.edu	37	chr17	10426662	10426662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactcgcctctcatgtttgCgcagacctttgacagcctca	7	12	7	15	2	3	2	3	1	1	1	5	2	3	2	3	0	2	2	3	0	0	2			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:10426662C>T	ENST00000245503.5	-	38	5924	c.5540G>A	c.(5539-5541)cGc>cAc	p.R1847H	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1847H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1847					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCATGTTTGCGCAGACCTTT	0.463													T	10426662	C	T	10426662	3	4	334	1	0	0	0	0	1	0	0	0	10111	768	27	1	297	1	MYH2	17	10426662	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	2849544	10426662	70768548	33	22119											
SARM1	23098	broad.mit.edu	37	chr17	26712246	26712246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctggaagactgcGgcatccacctgggcgtgcac	8	6	14	13	2	0	1	0	0	0	1	1	2	1	2	2	3	5	5	2	3	1	0			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:26712246G>A	ENST00000457710.3	+	5	1951	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	528	SAM 2.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGAAGACTGCGGCATCCACCT	0.741													A	26712246	G	A	26712246	3	1	334	1	0	0	0	0	1	0	0	0	13934	1116	39	1	1598	1	SARM1	17	26712246	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	16285584	26712246	54482964	34	22120											
LIG3	3980	broad.mit.edu	37	chr17	33319550	33319550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccttggcaggttagacGcccttgaccccaatgcctat	8	10	8	15	1	0	2	0	1	0	1	0	2	0	2	6	2	2	2	6	2	4	5			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:33319550G>A	ENST00000378526.4	+	8	1427	c.1294G>A	c.(1294-1296)Gcc>Acc	p.A432T	LIG3_ENST00000262327.5_Missense_Mutation_p.A432T	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	432					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CAGGTTAGACGCCCTTGACCC	0.542								Other BER factors					A	33319550	G	A	33319550	3	1	334	1	0	0	0	0	1	0	0	0	8842	1087	38	1	1320	1	LIG3	17	33319550	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	6607304	33319550	47875660	35	22121											
SOST	50964	broad.mit.edu	37	chr17	41835920	41835920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggggtggtggggaggccGccctccgttctccgcccggt	4	7	17	13	4	1	0	0	0	1	0	3	1	2	1	5	7	0	1	5	7	1	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr17:41835920G>A	ENST00000301691.2	-	1	236	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W		NM_025237.2	NP_079513.1	Q9BQB4	SOST_HUMAN	sclerostin	64					negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of ossification|negative regulation of protein complex assembly|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway		heparin binding|protein binding			large_intestine(2)|lung(3)|prostate(1)	6		Breast(137;0.00725)		UCEC - Uterine corpus endometrioid carcinoma (308;0.177)|BRCA - Breast invasive adenocarcinoma(366;0.0741)		TGGGGAGGCCGCCCTCCGTTC	0.562													A	41835920	G	A	41835920	3	1	334	1	0	0	0	0	1	0	0	0	15032	1086	38	1	459	1	SOST	17	41835920	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08	8516370	41835920	39359290	36	22122											
PTPRM	5797	broad.mit.edu	37	chr18	8244057	8244057	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaattctttatcctaaggAaactggccaagaagcggaaa	15	10	9	7	1	1	2	0	1	1	1	2	4	2	4	2	3	2	0	2	3	7	5			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:8244057A>G	ENST00000332175.8	+	15	3339	c.2302A>G	c.(2302-2304)Aaa>Gaa	p.K768E	PTPRM_ENST00000400060.4_Splice_Site_p.K768E|PTPRM_ENST00000400053.4_Splice_Site_p.K706E|PTPRM_ENST00000580170.1_Splice_Site_p.K768E|PTPRM_ENST00000444013.1_Splice_Site_p.K555E	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	768					homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TATCCTAAGGAAACTGGCCAA	0.438													G	8244057	A	G	8244057	5	3	334	1	0	0	0	0	0	0	1	0	12894	260	9	3	2360	3	PTPRM	18	8244057	Splice_Site	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08		8244057	69833191	37	22123											
LAMA3	3909	broad.mit.edu	37	chr18	21494681	21494682	+	Frame_Shift_Ins	INS	-	-	TTAA																															aatttatcagtttgcaaggcINSttaattacaccaaaggagcc																										TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21494681_21494682insTTAA	ENST00000313654.9	+	58	7742_7743	c.7501_7502insTTAA	c.(7501-7503)cttfs	p.-2502fs	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000269217.6_Frame_Shift_Ins_p.-893fs|LAMA3_ENST00000399516.3_Frame_Shift_Ins_p.-2446fs|LAMA3_ENST00000587184.1_Frame_Shift_Ins_p.-837fs	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3						cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTTGCAAGGCTTAATTACACC	0.347													TTAA	21494682	-	TTAA	21494681	7	5	334	1	0	1	1	0	0	0	0	0	8666	797	28	0	7906	0	LAMA3	18	21494681	Frame_Shift_Ins	INS	-	TCGA-DB-A75L-01A-11D-A32B-08	13250624	21494681	56582567	38	22124											
OSBPL1A	114876	broad.mit.edu	37	chr18	21758022	21758022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggttctgcttctacaCtcttcccccagaatttcagt	6	16	6	13	0	4	1	1	0	3	1	5	1	5	1	2	1	2	2	2	1	2	6			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr18:21758022C>A	ENST00000319481.3	-	21	2254	c.2048G>T	c.(2047-2049)aGt>aTt	p.S683I	OSBPL1A_ENST00000399443.3_Missense_Mutation_p.S170I|OSBPL1A_ENST00000357041.4_Missense_Mutation_p.S301I	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	683					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TGCTTCTACACTCTTCCCCCA	0.438													A	21758022	C	A	21758022	3	1	334	1	0	0	0	0	1	0	0	0	11353	565	20	4	836	4	OSBPL1A	18	21758022	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	263341	21758022	56319226	39	22125											
OLFM2	93145	broad.mit.edu	37	chr19	9968435	9968435	+	Missense_Mutation	SNP	G	G	A																															cccatcagctgcccggagccGcgcatccaggctccgcatga																										TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968435G>A	ENST00000264833.4	-	3	501	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W	OLFM2_ENST00000590841.1_Missense_Mutation_p.R28W	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	106			R -> Q (in dbSNP:rs2303100).			extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						GCCCGGAGCCGCGCATCCAGG	0.602													A	9968435	G	A	9968435	3	1	334	1	0	0	0	0	1	0	0	0	10929	1086	38	1	1064	1	OLFM2	19	9968435	Missense_Mutation	SNP	G	TCGA-DB-A75L-01A-11D-A32B-08		9968435	49160548	40	22126	33	2									
OLFM2	93145	broad.mit.edu	37	chr19	9968436	9968436	+	Silent	SNP	C	C	A																															ccatcagctgcccggagccgCgcatccaggctccgcatgag																										TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:9968436C>A	ENST00000264833.4	-	3	500	c.315G>T	c.(313-315)gcG>gcT	p.A105A	OLFM2_ENST00000590841.1_Silent_p.A27A	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	105						extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CCCGGAGCCGCGCATCCAGGC	0.597													A	9968436	C	A	9968436	2	1	334	1	0	0	0	0	0	0	0	1	10929	755	27	4		4	OLFM2	19	9968436	Silent	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	1	9968436	49160547	41	22127	33	2									
ILVBL	10994	broad.mit.edu	37	chr19	15233798	15233798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaacttacagagtggcCggaaaagggacagctgatca	16	5	11	9	1	1	2	1	1	0	1	1	4	1	4	1	3	3	1	1	3	5	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:15233798C>T	ENST00000263383.3	-	5	648	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	ILVBL_ENST00000534378.1_Missense_Mutation_p.R63Q|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	170						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						ACAGAGTGGCCGGAAAAGGGA	0.632													T	15233798	C	T	15233798	3	4	334	1	0	0	0	0	1	0	0	0	7773	652	23	1	1437	1	ILVBL	19	15233798	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	5265362	15233798	43895185	42	22128											
ZNF607	84775	broad.mit.edu	37	chr19	38190049	38190049	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccctgaataaattctcTgatgcatggtaagttgatac	11	14	7	9	0	2	3	0	3	2	0	4	3	2	3	2	1	2	3	2	1	5	5			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:38190049T>G	ENST00000355202.4	-	5	1578	c.983A>C	c.(982-984)cAg>cCg	p.Q328P	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.Q327P	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	328					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			ATAAATTCTCTGATGCATGGT	0.398													G	38190049	T	G	38190049	3	3	334	1	0	0	0	0	1	0	0	0	18134	1580	55	5	1111	5	ZNF607	19	38190049	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	22956251	38190049	20938934	43	22129											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130861	52130861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagttgaccttgaatgagCcctggctgctgttcccctcc	5	12	11	13	0	0	3	0	3	0	0	2	4	2	4	5	2	2	4	5	2	1	3			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chr19:52130861C>T	ENST00000222107.4	-	6	1274	c.1136G>A	c.(1135-1137)gGc>gAc	p.G379D	SIGLEC5_ENST00000570106.2_Missense_Mutation_p.G379D|SIGLEC5_ENST00000534261.2_Missense_Mutation_p.G379D|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.G379D|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.G379D			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	379					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		CTTGAATGAGCCCTGGCTGCT	0.662													T	52130861	C	T	52130861	3	4	334	1	0	0	0	0	1	0	0	0	14405	739	26	2	535	2	SIGLEC5	19	52130861	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	13940812	52130861	6998122	44	22130											
YY2	404281	broad.mit.edu	37	chrX	21875031	21875031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcagcaaaaagcccagcaaAaagcccagcggcaagagtgc	16	1	11	13	2	0	1	0	0	0	1	0	1	0	1	2	1	6	4	2	1	5	0			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:21875031A>G	ENST00000429584.2	+	1	927	c.429A>G	c.(427-429)aaA>aaG	p.K143K	MBTPS2_ENST00000379484.5_Intron|MBTPS2_ENST00000365779.2_Intron|MBTPS2_ENST00000465888.1_3'UTR	NM_206923.3	NP_996806.2	O15391	TYY2_HUMAN	YY2 transcription factor	143					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|plasma membrane	DNA binding|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	19						agcccagcaaaaagcccagcG	0.602													G	21875031	A	G	21875031	2	3	334	1	0	0	0	0	0	0	0	1	17611	11	1	3		3	YY2	23	21875031	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08		21875031	133395529	45	22131											
DMD	1756	broad.mit.edu	37	chrX	31947768	31947768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaagtttatcttgctctTctgggcttatgggagcactt	6	18	9	8	0	4	0	1	0	3	0	4	1	4	1	0	2	2	4	0	2	3	7			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:31947768T>C	ENST00000357033.4	-	47	7063	c.6857A>G	c.(6856-6858)gAa>gGa	p.E2286G	DMD_ENST00000474231.1_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000378677.2_Missense_Mutation_p.E2282G|DMD_ENST00000359836.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2286					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATCTTGCTCTTCTGGGCTTAT	0.428													C	31947768	T	C	31947768	3	2	334	1	0	0	0	0	1	0	0	0	4619	1783	62	3	4480	3	DMD	23	31947768	Missense_Mutation	SNP	T	TCGA-DB-A75L-01A-11D-A32B-08	10072737	31947768	123322792	46	22132											
NLGN3	54413	broad.mit.edu	37	chrX	70386886	70386886	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccagagagccatcatccaAagtggctctgctctgtccag	9	10	9	13	0	3	1	1	0	2	1	6	2	6	1	4	1	2	2	4	1	1	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:70386886A>G	ENST00000374051.3	+	6	1201	c.879A>G	c.(877-879)caA>caG	p.Q293Q	NLGN3_ENST00000358741.3_Silent_p.Q313Q|NLGN3_ENST00000536169.1_Silent_p.Q273Q|NLGN3_ENST00000476589.1_3'UTR	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	313					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					CCATCATCCAAAGTGGCTCTG	0.512													G	70386886	A	G	70386886	2	3	334	1	0	0	0	0	0	0	0	1	10539	11	1	3		3	NLGN3	23	70386886	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	38439118	70386886	84883674	47	22133											
PGK1	5230	broad.mit.edu	37	chrX	77369613	77369613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagaacctccgctttCatgtggaggaagaagggaag	11	8	15	7	1	1	2	1	0	0	2	2	6	2	5	2	4	2	2	2	4	4	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:77369613C>A	ENST00000373316.4	+	4	540	c.373C>A	c.(373-375)Cat>Aat	p.H125N	PGK1_ENST00000442431.1_Intron|PGK1_ENST00000537456.1_Missense_Mutation_p.H97N	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	125					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						CCTCCGCTTTCATGTGGAGGA	0.517													A	77369613	C	A	77369613	3	1	334	1	0	0	0	0	1	0	0	0	11867	826	29	4	387	4	PGK1	23	77369613	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	6982727	77369613	77900947	48	22134											
GPC4	2239	broad.mit.edu	37	chrX	132436968	132436968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcctgtgccccaggaCggacaccagcactgtcggct	7	6	14	14	2	0	0	0	0	0	0	1	2	0	2	4	5	2	3	4	5	1	1	rs148166792		TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:132436968C>G	ENST00000370828.3	-	9	2122	c.1598G>C	c.(1597-1599)cGt>cCt	p.R533P	GPC4_ENST00000535467.1_Missense_Mutation_p.R463P	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	533					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					TGCCCCAGGACGGACACCAGC	0.502													G	132436968	C	G	132436968	3	3	334	1	0	0	0	0	1	0	0	0	6654	536	19	4	76	4	GPC4	23	132436968	Missense_Mutation	SNP	C	TCGA-DB-A75L-01A-11D-A32B-08	55067355	132436968	22833592	49	22135											
TMEM185A	84548	broad.mit.edu	37	chrX	148690457	148690457	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaacttcaaacatcaacaAgagcaagtggatgcccactg	16	6	8	11	0	2	2	2	0	0	2	2	3	2	3	1	1	5	1	1	1	5	1			TCGA-DB-A75L-01A-11D-A32B-08	TCGA-DB-A75L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35c2e77c-ba13-42a3-95f7-9c6e12879cef	b820b9a4-9489-4f19-83b9-23b65828d5d2	g.chrX:148690457A>G	ENST00000316916.8	-	3	584	c.280T>C	c.(280-282)Ttg>Ctg	p.L94L	TMEM185A_ENST00000536359.1_Silent_p.L35L|TMEM185A_ENST00000507237.1_Silent_p.L94L	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	94						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AACATCAACAAGAGCAAGTGG	0.468													G	148690457	A	G	148690457	2	3	334	1	0	0	0	0	0	0	0	1	16207	69	3	3		3	TMEM185A	23	148690457	Silent	SNP	A	TCGA-DB-A75L-01A-11D-A32B-08	16253489	148690457	6580103	50	22136											
RUNX3	864	broad.mit.edu	37	chr1	25228807	25228807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggtgagcggtcgccccCactgctgctgccggccacca	5	6	14	16	3	0	1	0	1	0	0	1	1	0	1	5	4	4	3	5	4	1	1			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:25228807C>A	ENST00000399916.1	-	6	1534	c.1096G>T	c.(1096-1098)Ggg>Tgg	p.G366W	RUNX3_ENST00000308873.6_Missense_Mutation_p.G352W|RUNX3_ENST00000540420.1_Missense_Mutation_p.G259W|RUNX3_ENST00000338888.3_Missense_Mutation_p.G366W	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	352	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		CGGTCGCCCCCACTGCTGCTG	0.682													A	25228807	C	A	25228807	3	1	335	1	0	0	0	0	1	0	0	0	13840	594	21	4	197	4	RUNX3	1	25228807	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		25228807	224021814	1	22137											
RAD54L	8438	broad.mit.edu	37	chr1	46736447	46736447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgggagctcaccagcAttgtgaataggtaatgacct	10	9	13	9	1	1	2	1	2	0	0	1	3	1	3	2	3	3	4	2	3	3	3			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr1:46736447A>G	ENST00000371975.4	+	10	1833	c.1159A>G	c.(1159-1161)Att>Gtt	p.I387V	RAD54L_ENST00000442598.1_Missense_Mutation_p.I387V|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	387					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GCTCACCAGCATTGTGAATAG	0.512								Direct reversal of damage;Homologous recombination					G	46736447	A	G	46736447	3	3	335	1	0	0	0	0	1	0	0	0	13081	217	8	3	1197	3	RAD54L	1	46736447	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08	21507640	46736447	202514174	2	22138											
DNAH7	56171	broad.mit.edu	37	chr2	196723412	196723412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaacctctttgctagcaActtttaattgaggatgtagt	11	15	7	8	0	2	1	1	1	1	0	2	2	2	2	1	1	4	3	1	1	5	6			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:196723412A>G	ENST00000312428.6	-	43	7953	c.7853T>C	c.(7852-7854)gTt>gCt	p.V2618A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2618	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TTTGCTAGCAACTTTTAATTG	0.378													G	196723412	A	G	196723412	3	3	335	1	0	0	0	0	1	0	0	0	4645	43	2	3	4313	3	DNAH7	2	196723412	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08		196723412	46475961	3	22139											
SF3B1	23451	broad.mit.edu	37	chr2	198265653	198265653	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaactccacagtagtaTcaactaactaaaaagaacag	18	8	5	10	0	1	1	1	0	0	1	2	1	2	1	2	0	5	2	2	0	9	5			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:198265653T>A	ENST00000335508.6	-	18	2595	c.2504A>T	c.(2503-2505)gAt>gTt	p.D835V		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CACAGTAGTATCAACTAACTA	0.343			Mis		myelodysplastic syndrome								A	198265653	T	A	198265653	3	1	335	1	0	0	0	0	1	0	0	0	14242	1435	50	5	1442	5	SF3B1	2	198265653	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08	1542241	198265653	44933720	4	22140											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	335	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08	10847460	209113113	34086260	5	22141											
ATR	545	broad.mit.edu	37	chr3	142238509	142238509	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacattaaataagcctacatAcctggtatttagatgaggtt	14	14	7	6	0	0	2	0	1	0	1	0	2	0	2	2	2	4	2	2	2	8	9			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:142238509A>G	ENST00000350721.4	-	24	4504		c.e24+1		ATR_ENST00000383101.3_Splice_Site	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related						cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						aaGCCTACATACCTGGTATTT	0.398								Other conserved DNA damage response genes					G	142238509	A	G	142238509	5	3	335	1	0	0	0	0	0	0	1	0	1209	405	14	3	3646	3	ATR	3	142238509	Splice_Site	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08		142238509	55783921	6	22142											
PTX3	5806	broad.mit.edu	37	chr3	157154853	157154853	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccatcccactgaggaccGtaagttcactttaactgttt	10	13	6	12	1	1	1	1	1	0	0	3	2	3	2	3	1	1	3	3	1	2	5			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr3:157154853G>A	ENST00000295927.3	+	1	275		c.e1+1		VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000362010.2_Intron|VEPH1_ENST00000392832.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long						inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACTGAGGACCGTAAGTTCACT	0.423													A	157154853	G	A	157154853	5	1	335	1	0	0	0	0	0	0	1	0	12910	1159	40	1	133	1	PTX3	3	157154853	Splice_Site	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08	14916344	157154853	40867577	7	22143											
PRSS12	8492	broad.mit.edu	37	chr4	119216997	119216997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtaatctcaagccacaaaCagatgagagggactctgaag	16	6	10	9	0	2	3	1	2	2	2	3	5	2	4	1	1	2	1	1	1	4	1	rs145983533		TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:119216997C>G	ENST00000296498.3	-	10	2134	c.1852G>C	c.(1852-1854)Gtt>Ctt	p.V618L	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	618						membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AAGCCACAAACAGATGAGAGG	0.403													G	119216997	C	G	119216997	3	3	335	1	0	0	0	0	1	0	0	0	12700	478	17	4	791	4	PRSS12	4	119216997	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		119216997	71937279	8	22144											
ANKRD50	57182	broad.mit.edu	37	chr4	125590192	125590192	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagggtcagaaccttcaaTctgaagcttcagagcttgtt	10	12	10	9	0	4	3	3	1	1	2	4	3	4	3	1	1	3	4	1	1	4	5			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:125590192T>C	ENST00000504087.1	-	4	5277	c.4240A>G	c.(4240-4242)Att>Gtt	p.I1414V	ANKRD50_ENST00000515641.1_Missense_Mutation_p.I1235V	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1414										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GAACCTTCAATCTGAAGCTTC	0.388													C	125590192	T	C	125590192	3	2	335	1	0	0	0	0	1	0	0	0	677	1435	50	3	53	3	ANKRD50	4	125590192	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08	6373195	125590192	65564084	9	22145											
INTU	27152	broad.mit.edu	37	chr4	128621196	128621196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcattaagtgacttggAggctgcagattttgcagaac	11	11	12	7	0	0	3	0	1	0	2	0	4	0	4	0	3	3	4	0	3	2	4			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr4:128621196A>G	ENST00000335251.6	+	9	1584	c.1481A>G	c.(1480-1482)gAg>gGg	p.E494G	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGTGACTTGGAGGCTGCAGAT	0.303													G	128621196	A	G	128621196	3	3	335	1	0	0	0	0	1	0	0	0	7844	304	11	3	1515	3	INTU	4	128621196	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08	3031004	128621196	62533080	10	22146											
IRF4	3662	broad.mit.edu	37	chr6	394869	394869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaggcatcgacaagccgGaccctcccacctggaagacg	12	3	12	14	3	0	2	0	0	0	2	2	6	1	4	4	3	1	1	4	3	3	0			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:394869G>T	ENST00000380956.4	+	3	391	c.265G>T	c.(265-267)Gac>Tac	p.D89Y	IRF4_ENST00000495137.1_3'UTR	NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	89					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CGACAAGCCGGACCCTCCCAC	0.512			T	IGH@	MM								T	394869	G	T	394869	3	4	335	1	0	0	0	0	1	0	0	0	7890	1174	41	4	271	4	IRF4	6	394869	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		394869	170720198	11	22147											
GPR110	266977	broad.mit.edu	37	chr6	46982425	46982425	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatgcctcaccttgttcaGttcttcaagcagagagagca	13	10	8	10	0	4	2	3	0	1	2	4	3	4	2	2	0	3	4	2	0	3	4			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr6:46982425G>C	ENST00000371253.2	-	9	1134	c.919C>G	c.(919-921)Ctg>Gtg	p.L307V	GPR110_ENST00000283297.5_Missense_Mutation_p.L110V|GPR110_ENST00000449332.2_5'UTR	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	307					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ACCTTGTTCAGTTCTTCAAGC	0.522													C	46982425	G	C	46982425	3	2	335	1	0	0	0	0	1	0	0	0	6681	1020	36	4	1841	4	GPR110	6	46982425	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08	46587556	46982425	124132642	12	22148											
NOBOX	135935	broad.mit.edu	37	chr7	144098450	144098450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatcttccccctgagtctggGgcctggagcgggctagagtt	6	10	14	11	1	2	2	0	1	2	1	3	3	3	3	3	4	1	2	3	4	2	3			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr7:144098450G>T	ENST00000467773.1	-	4	532	c.533C>A	c.(532-534)cCc>cAc	p.P178H	NOBOX_ENST00000223140.5_Missense_Mutation_p.P93H|NOBOX_ENST00000483238.1_Missense_Mutation_p.P178H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	178					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTGAGTCTGGGGCCTGGAGCG	0.617													T	144098450	G	T	144098450	3	4	335	1	0	0	0	0	1	0	0	0	10588	1232	43	4	1474	4	NOBOX	7	144098450	Missense_Mutation	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		144098450	15040213	13	22149											
STAR	6770	broad.mit.edu	37	chr8	38003533	38003533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagtctgtggccatgccagCcagcacacaggtggagcctc	9	6	13	13	0	1	0	0	0	1	0	2	2	1	1	4	3	4	1	4	3	1	0			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:38003533C>G	ENST00000276449.4	-	5	1044	c.598G>C	c.(598-600)Gct>Cct	p.A200P		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	200	START.				C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		GCCATGCCAGCCAGCACACAG	0.622													G	38003533	C	G	38003533	3	3	335	1	0	0	0	0	1	0	0	0	15350	739	26	4	271	4	STAR	8	38003533	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		38003533	108360489	14	22150											
SDR16C5	195814	broad.mit.edu	37	chr8	57228684	57228684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatgtttcctcattcccctCcttattgatatcccagagaa	10	14	4	13	0	1	2	1	1	0	1	5	3	5	2	5	0	0	1	5	0	3	5			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:57228684C>T	ENST00000396721.2	-	2	353	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SDR16C5_ENST00000522671.1_Missense_Mutation_p.E75K|SDR16C5_ENST00000303749.3_Missense_Mutation_p.E75K			Q8N3Y7	RDHE2_HUMAN	short chain dehydrogenase/reductase family 16C, member 5	75					detection of light stimulus involved in visual perception|keratinocyte proliferation|retinal metabolic process|retinol metabolic process	endoplasmic reticulum membrane|integral to membrane|integral to membrane of membrane fraction	binding|retinol dehydrogenase activity	p.E75K(1)		breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)	16						TCATTCCCCTCCTTATTGATA	0.507													T	57228684	C	T	57228684	3	4	335	1	0	0	0	0	1	0	0	0	14064	864	30	2	730	2	SDR16C5	8	57228684	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08	19225151	57228684	89135338	15	22151											
MATN2	4147	broad.mit.edu	37	chr8	98943201	98943201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagttcctgtgagaacaagCgggcagacctggttttcatc	10	10	12	9	1	1	3	1	1	0	3	3	4	2	3	2	2	2	3	2	2	2	3			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr8:98943201C>T	ENST00000254898.5	+	3	394	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	MATN2_ENST00000521689.1_Missense_Mutation_p.R55W|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R55W|MATN2_ENST00000524308.1_Missense_Mutation_p.R55W	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	55						proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGAGAACAAGCGGGCAGACCT	0.493													T	98943201	C	T	98943201	3	4	335	1	0	0	0	0	1	0	0	0	9409	759	27	1	169	1	MATN2	8	98943201	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08	41714517	98943201	47420821	16	22152											
C9orf3	84909	broad.mit.edu	37	chr9	97522482	97522482	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagggaatcatgggagTgaggattttttgctagtgtt	10	13	14	4	0	1	1	1	1	0	0	1	5	1	4	0	3	1	2	0	3	2	5			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr9:97522482T>A	ENST00000375315.2	+	1	417	c.417T>A	c.(415-417)agT>agA	p.S139R	C9orf3_ENST00000277198.2_Missense_Mutation_p.S139R|C9orf3_ENST00000297979.5_Missense_Mutation_p.S139R	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	139					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		ATCATGGGAGTGAGGATTTTT	0.423													A	97522482	T	A	97522482	3	1	335	1	0	0	0	0	1	0	0	0	2503	1693	59	5	419	5	C9orf3	9	97522482	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08		97522482	43690949	17	22153											
MUC5B	727897	broad.mit.edu	37	chr11	1266089	1266089	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccacccacacccccaCagtgctgaccaccaccacca	11	2	7	21	0	0	1	0	1	0	0	0	2	0	2	8	2	1	1	8	2	0	0			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr11:1266089C>G	ENST00000447027.1	+	31	8046	c.7988C>G	c.(7987-7989)aCa>aGa	p.T2663R	MUC5B_ENST00000529681.1_Missense_Mutation_p.T2660R|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2660	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACACCCCCACAGTGCTGACC	0.617													G	1266089	C	G	1266089	3	3	335	1	0	0	0	0	1	0	0	0	10055	478	17	4	8110	4	MUC5B	11	1266089	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		1266089	133740427	18	22154											
ARID2	196528	broad.mit.edu	37	chr12	46246183	46246183	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattaactttgggtggttCatctgtgagcagtatacagg	9	15	12	5	0	2	1	1	1	1	0	2	1	2	1	0	3	3	4	0	3	4	6			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr12:46246183C>A	ENST00000334344.6	+	15	4449	c.4277C>A	c.(4276-4278)tCa>tAa	p.S1426*	ARID2_ENST00000444670.1_Nonsense_Mutation_p.S1036*|ARID2_ENST00000457135.1_Nonsense_Mutation_p.S34*|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Nonsense_Mutation_p.S1277*	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1426					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTGGGTGGTTCATCTGTGAGC	0.403			"N, S, F"		hepatocellular carcinoma								A	46246183	C	A	46246183	4	1	335	1	0	0	0	0	0	1	0	0	918	838	29	4	4335	4	ARID2	12	46246183	Nonsense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		46246183	87605712	19	22155											
SETD3	84193	broad.mit.edu	37	chr14	99865292	99865292	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagcccaaggttactctcTtcatatttgggaagcggagc	11	10	10	10	1	2	0	1	0	1	0	3	2	2	2	1	3	5	1	1	3	5	4			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr14:99865292T>C	ENST00000331768.5	-	13	1668	c.1509A>G	c.(1507-1509)gaA>gaG	p.E503E		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	503					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGTTACTCTCTTCATATTTGG	0.527													C	99865292	T	C	99865292	2	2	335	1	0	0	0	0	0	0	0	1	14225	1606	56	3		3	SETD3	14	99865292	Silent	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08		99865292	7484248	20	22156											
SLC12A3	6559	broad.mit.edu	37	chr16	56906653	56906653	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcttcttcccctcGgccacaggcatcctggcagg	5	11	8	17	1	3	0	0	0	3	0	7	0	5	0	5	4	0	2	5	4	0	3			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr16:56906653G>A	ENST00000438926.2	+	8	1079	c.1050G>A	c.(1048-1050)tcG>tcA	p.S350S	SLC12A3_ENST00000563236.1_Silent_p.S350S|SLC12A3_ENST00000566786.1_Silent_p.S349S|SLC12A3_ENST00000262502.5_Silent_p.S349S	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	350					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCTTCCCCTCGGCCACAGGCA	0.567													A	56906653	G	A	56906653	2	1	335	1	0	0	0	0	0	0	0	1	14478	1103	39	1		1	SLC12A3	16	56906653	Silent	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		56906653	33448100	21	22157											
TP53	7157	broad.mit.edu	37	chr17	7577114	7577114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctcccaggacaggcaCaaacacgcacctcaaagctg	12	5	9	15	1	2	0	1	0	1	0	4	1	3	1	2	3	2	3	2	3	2	0			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr17:7577114C>A	ENST00000420246.2	-	8	956	c.824G>T	c.(823-825)tGt>tTt	p.C275F	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275F|TP53_ENST00000269305.4_Missense_Mutation_p.C275F|TP53_ENST00000455263.2_Missense_Mutation_p.C275F|TP53_ENST00000445888.2_Missense_Mutation_p.C275F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 LFS; 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.C275Y(53)|p.C275F(37)|p.0?(8)|p.C275fs*70(3)|p.?(2)|p.C275S(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.A276fs*29(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		AGGACAGGCACAAACACGCAC	0.552		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)			A	7577114	C	A	7577114	3	1	335	1	0	0	0	0	1	0	0	0	16482	478	17	4	462	4	TP53	17	7577114	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08		7577114	73618096	22	22158											
IRGC	56269	broad.mit.edu	37	chr19	44223451	44223451	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccacgctggcctgctgtcGctccccgacatctcgctgga	4	8	11	18	5	1	0	0	0	1	0	4	2	2	1	4	2	1	4	4	2	0	0			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr19:44223451G>A	ENST00000244314.5	+	2	940	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	247						membrane	GTP binding|hydrolase activity, acting on acid anhydrides			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				GCCTGCTGTCGCTCCCCGACA	0.657													A	44223451	G	A	44223451	2	1	335	1	0	0	0	0	0	0	0	1	7896	1074	38	1		1	IRGC	19	44223451	Silent	SNP	G	TCGA-DB-A75M-01A-11D-A32B-08		44223451	14905532	23	22159											
PROCR	10544	broad.mit.edu	37	chr20	33764557	33764557	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggcgtcctggtgggcagtTtcatcattgctggtgtggct	3	14	16	8	1	2	0	2	0	0	0	3	0	3	0	1	5	1	4	1	5	0	2			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chr20:33764557T>C	ENST00000216968.4	+	4	740	c.658T>C	c.(658-660)Ttc>Ctc	p.F220L	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	220					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	GGTGGGCAGTTTCATCATTGC	0.567													C	33764557	T	C	33764557	3	2	335	1	0	0	0	0	1	0	0	0	12633	1841	64	3	672	3	PROCR	20	33764557	Missense_Mutation	SNP	T	TCGA-DB-A75M-01A-11D-A32B-08		33764557	29260963	24	22160											
ATRX	546	broad.mit.edu	37	chrX	76939652	76939652	+	Frame_Shift_Del	DEL	T	T	-																															tttaacataactggagttcaTgttggctgtggtctcaatca																										TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:76939652delT	ENST00000373344.5	-	9	1310	c.1096delA	c.(1096-1098)atgfs	p.M366fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.M328fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	366					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)	CTGGAGTTCATGTTGGCTGTG	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939652	T	-	76939652	7	5	335	1	0	1	0	1	0	0	0	0	1213	1464	51	0	6490	0	ATRX	23	76939652	Frame_Shift_Del	DEL	T	TCGA-DB-A75M-01A-11D-A32B-08		76939652	78330908	25	22161											
ATP7A	538	broad.mit.edu	37	chrX	77266953	77266953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatataagatggagaCggtcttttcttgtgagtctg	8	17	10	6	1	3	3	0	1	3	2	4	4	4	3	1	2	0	0	1	2	2	7			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:77266953C>T	ENST00000341514.6	+	9	2109	c.1954C>T	c.(1954-1956)Cgg>Tgg	p.R652W	ATP7A_ENST00000343533.5_Missense_Mutation_p.R652W|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	652					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAGATGGAGACGGTCTTTTCT	0.343													T	77266953	C	T	77266953	3	4	335	1	0	0	0	0	1	0	0	0	1195	527	19	1	1984	1	ATP7A	23	77266953	Missense_Mutation	SNP	C	TCGA-DB-A75M-01A-11D-A32B-08	327301	77266953	78003607	26	22162											
TCEAL1	9338	broad.mit.edu	37	chrX	102885053	102885053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaggagcgccctccgcAggagggtctttccaggaagg	7	6	16	12	3	1	0	0	0	1	0	4	4	3	4	3	6	1	1	3	6	1	1			TCGA-DB-A75M-01A-11D-A32B-08	TCGA-DB-A75M-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f0261e0-ff3e-4bd6-bb8d-914187a67923	10dda1e2-c52b-4495-b0a4-150c7de6f1b4	g.chrX:102885053A>G	ENST00000372625.3	+	3	373	c.209A>G	c.(208-210)cAg>cGg	p.Q70R	TCEAL1_ENST00000372626.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000372624.3_Missense_Mutation_p.Q70R|TCEAL1_ENST00000469820.1_3'UTR	NM_001006639.1|NM_004780.2	NP_001006640.1|NP_004771.2	Q15170	TCAL1_HUMAN	transcription elongation factor A (SII)-like 1	68	Arg/Ser-rich.				negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			ovary(1)	1						CGCCCTCCGCAGGAGGGTCTT	0.572													G	102885053	A	G	102885053	3	3	335	1	0	0	0	0	1	0	0	0	15770	188	7	3	211	3	TCEAL1	23	102885053	Missense_Mutation	SNP	A	TCGA-DB-A75M-01A-11D-A32B-08	25618100	102885053	52385507	27	22163											
CLCNKA	1187	broad.mit.edu	37	chr1	16359720	16359720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcttcgtgacatcgcgggGcagagctgtgggctgcgtgt	4	10	16	11	4	1	2	0	1	1	1	3	2	1	2	1	3	2	3	1	3	0	1			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:16359720G>A	ENST00000375692.1	+	20	2110	c.1982G>A	c.(1981-1983)gGc>gAc	p.G661D	CLCNKA_ENST00000331433.4_Missense_Mutation_p.G662D|CLCNKA_ENST00000420078.1_Missense_Mutation_p.G661D|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Missense_Mutation_p.G619D			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	662	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity	p.G662V(1)		breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	ACATCGCGGGGCAGAGCTGTG	0.607											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	16359720	G	A	16359720	3	1	336	1	0	0	0	0	1	0	0	0	3500	1203	42	2	2055	2	CLCNKA	1	16359720	Missense_Mutation	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		16359720	232890901	1	22164											
ZFYVE9	9372	broad.mit.edu	37	chr1	52704261	52704261	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattccttaatatgacagAgcatttctctgaatctcagg	13	13	7	8	0	2	4	1	2	2	2	5	4	3	4	1	1	1	1	1	1	4	4			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:52704261A>G	ENST00000287727.3	+	4	1344	c.1172A>G	c.(1171-1173)gAg>gGg	p.E391G	ZFYVE9_ENST00000371591.1_Missense_Mutation_p.E391G|ZFYVE9_ENST00000357206.2_Missense_Mutation_p.E391G			O95405	ZFYV9_HUMAN	zinc finger, FYVE domain containing 9	391					endocytosis|SMAD protein complex assembly|SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	early endosome membrane	metal ion binding|protein binding|receptor activity|serine-type peptidase activity			breast(1)|central_nervous_system(4)|endometrium(3)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	53						AATATGACAGAGCATTTCTCT	0.363													G	52704261	A	G	52704261	3	3	336	1	0	0	0	0	1	0	0	0	17772	304	11	3	1178	3	ZFYVE9	1	52704261	Missense_Mutation	SNP	A	TCGA-DB-A75O-01A-11D-A32B-08	36344541	52704261	196546360	2	22165											
USP24	23358	broad.mit.edu	37	chr1	55598323	55598323	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctgttgctttgatgaCagggatggagattttgagga	8	14	16	3	0	0	4	0	3	0	1	0	7	0	6	0	4	2	3	0	4	0	4			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:55598323C>A	ENST00000294383.6	-	31	3431	c.3432G>T	c.(3430-3432)ctG>ctT	p.L1144L	USP24_ENST00000407756.1_Silent_p.L984L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1144	Ser-rich.				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GCTTTGATGACAGGGATGGAG	0.393													A	55598323	C	A	55598323	2	1	336	1	0	0	0	0	0	0	0	1	17157	465	17	4		4	USP24	1	55598323	Silent	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	2894062	55598323	193652298	3	22166											
LRRC8C	84230	broad.mit.edu	37	chr1	90178874	90178874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagaaggtgaagaagttcAggctgcatgtggaagaaggt	13	9	16	3	0	1	4	1	2	0	3	1	6	1	5	0	4	1	3	0	4	5	2			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr1:90178874A>G	ENST00000370454.4	+	3	1000	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	LRRC8C_ENST00000479252.1_Intron|RP11-302M6.4_ENST00000370453.5_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	249						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GAAGAAGTTCAGGCTGCATGT	0.403													G	90178874	A	G	90178874	3	3	336	1	0	0	0	0	1	0	0	0	9093	179	7	3	751	3	LRRC8C	1	90178874	Missense_Mutation	SNP	A	TCGA-DB-A75O-01A-11D-A32B-08	34580551	90178874	159071747	4	22167											
LRRTM1	347730	broad.mit.edu	37	chr2	80530285	80530285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaagttcaccttgaccaaGtcgttgtgctcgaggtgcag	8	10	13	10	3	1	1	1	1	0	0	3	3	1	1	2	1	2	4	2	1	2	3			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr2:80530285G>C	ENST00000295057.3	-	2	1316	c.660C>G	c.(658-660)gaC>gaG	p.D220E	CTNNA2_ENST00000466387.1_Intron|CTNNA2_ENST00000402739.4_Intron|CTNNA2_ENST00000361291.4_Intron|CTNNA2_ENST00000496558.1_Intron|CTNNA2_ENST00000541047.1_Intron|LRRTM1_ENST00000409148.1_Missense_Mutation_p.D220E|CTNNA2_ENST00000540488.1_Intron	NM_178839.4	NP_849161.2	Q86UE6	LRRT1_HUMAN	leucine rich repeat transmembrane neuronal 1	220						axon|endoplasmic reticulum membrane|growth cone|integral to membrane				NS(1)|breast(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(33)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	63						CCTTGACCAAGTCGTTGTGCT	0.572										HNSCC(69;0.2)			C	80530285	G	C	80530285	3	2	336	1	0	0	0	0	1	0	0	0	9109	1020	36	4	912	4	LRRTM1	2	80530285	Missense_Mutation	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		80530285	162669088	5	22168											
TTN	7273	broad.mit.edu	37	chr2	179470238	179470238	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcatacatttggtgttcAtcaagattttcaaccagaaa	15	13	5	8	0	4	2	4	0	0	2	4	2	4	2	1	1	3	1	1	1	5	5			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr2:179470238A>T	ENST00000589042.1	-	279	54008	c.53784T>A	c.(53782-53784)gaT>gaA	p.D17928E	TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D9055E|TTN_ENST00000591111.1_Missense_Mutation_p.D16287E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D8988E|TTN_ENST00000460472.2_Missense_Mutation_p.D8863E|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D15360E|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16287	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGGTGTTCATCAAGATTTT	0.393													T	179470238	A	T	179470238	3	4	336	1	0	0	0	0	1	0	0	0	16837	214	8	5	54245	5	TTN	2	179470238	Missense_Mutation	SNP	A	TCGA-DB-A75O-01A-11D-A32B-08	98939953	179470238	63729135	6	22169											
ZDBF2	57683	broad.mit.edu	37	chr2	207171520	207171520	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacttttgattctgacccGcctcttctgtcagttactga	6	17	7	11	1	4	4	1	4	3	0	4	4	4	4	2	0	1	1	2	0	1	6			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr2:207171520G>A	ENST00000374423.3	+	5	2654	c.2268G>A	c.(2266-2268)ccG>ccA	p.P756P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	756							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCTGACCCGCCTCTTCTGT	0.418													A	207171520	G	A	207171520	2	1	336	1	0	0	0	0	0	0	0	1	17700	1074	38	1		1	ZDBF2	2	207171520	Silent	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08	27701282	207171520	36027853	7	22170											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	336	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	1941592	209113112	34086261	8	22171											
KIF15	56992	broad.mit.edu	37	chr3	44853776	44853776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatcattctacccaaatgCaggaggtgagaccaagagca	16	6	9	10	0	2	2	1	1	1	2	2	4	2	3	2	2	4	2	2	2	4	2			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr3:44853776C>A	ENST00000326047.4	+	18	2421	c.2272C>A	c.(2272-2274)Cag>Aag	p.Q758K	KIF15_ENST00000425755.1_Missense_Mutation_p.Q393K	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	758					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		TACCCAAATGCAGGAGGTGAG	0.423													A	44853776	C	A	44853776	3	1	336	1	0	0	0	0	1	0	0	0	8335	711	25	4	2342	4	KIF15	3	44853776	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		44853776	153168654	9	22172											
TBC1D1	23216	broad.mit.edu	37	chr4	38020014	38020014	+	Frame_Shift_Del	DEL	A	A	-																															acctcatcagtcctgacaccAaaaaaatagcattggagaaa																										TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr4:38020014delA	ENST00000261439.4	+	4	1277	c.922delA	c.(922-924)aaafs	p.K309fs	TBC1D1_ENST00000508802.1_Frame_Shift_Del_p.K309fs	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	309	PID.					nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						TCCTGACACCAAAAAAATAGC	0.313													-	38020014	A	-	38020014	7	5	336	1	0	1	0	1	0	0	0	0	15694	131	5	0	932	0	TBC1D1	4	38020014	Frame_Shift_Del	DEL	A	TCGA-DB-A75O-01A-11D-A32B-08		38020014	153134262	10	22173											
C7orf63	79846	broad.mit.edu	37	chr7	89874847	89874847	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtggtgacggaggacGatgaggcgcaggtatgagca	9	7	20	5	3	0	3	0	3	0	0	0	6	0	5	0	7	1	3	0	7	1	2			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr7:89874847G>T	ENST00000389297.4	+	1	360	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	C7orf63_ENST00000497910.1_Missense_Mutation_p.D37Y|C7orf63_ENST00000463311.1_3'UTR|C7orf63_ENST00000316089.8_Missense_Mutation_p.D37Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	37							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						GACGGAGGACGATGAGGCGCA	0.627													T	89874847	G	T	89874847	3	4	336	1	0	0	0	0	1	0	0	0	2433	1058	37	4	111	4	C7orf63	7	89874847	Missense_Mutation	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		89874847	69263816	11	22174											
AGAP3	116988	broad.mit.edu	37	chr7	150815375	150815375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagatctgaagcggtgcaCctactatgagacgtgcgcga	11	7	12	11	4	1	3	0	2	1	2	1	5	1	3	1	1	4	1	1	1	3	2			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr7:150815375C>A	ENST00000397238.2	+	6	785	c.785C>A	c.(784-786)aCc>aAc	p.T262N	AGAP3_ENST00000335367.3_Missense_Mutation_p.T442N|AGAP3_ENST00000463381.1_Missense_Mutation_p.T34N|AGAP3_ENST00000479901.1_Missense_Mutation_p.T262N|AGAP3_ENST00000473312.1_Missense_Mutation_p.T262N|AGAP3_ENST00000476375.1_3'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	226	Small GTPase-like.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						AAGCGGTGCACCTACTATGAG	0.642													A	150815375	C	A	150815375	3	1	336	1	0	0	0	0	1	0	0	0	369	507	18	4	807	4	AGAP3	7	150815375	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	60940528	150815375	8323288	12	22175											
RP1	6101	broad.mit.edu	37	chr8	55541829	55541829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttggccccaggcccaaCgatggatgaactctcctctt	9	11	8	13	1	2	1	0	1	2	0	3	3	2	2	4	3	2	0	4	3	3	3			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr8:55541829C>T	ENST00000220676.1	+	4	5535	c.5387C>T	c.(5386-5388)aCg>aTg	p.T1796M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1796					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T1796M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCAGGCCCAACGATGGATGAA	0.448													T	55541829	C	T	55541829	3	4	336	1	0	0	0	0	1	0	0	0	13623	536	19	1	5397	1	RP1	8	55541829	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		55541829	90822193	13	22176											
PAG1	55824	broad.mit.edu	37	chr8	81897059	81897059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactctcttccgcctctccCccttccttctcctgaaggtt	3	14	5	19	1	3	1	0	1	3	0	8	1	5	1	6	1	0	2	6	1	1	4			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr8:81897059C>T	ENST00000220597.4	-	7	1538	c.828G>A	c.(826-828)ggG>ggA	p.G276G		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	276					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			CCGCCTCTCCCCCTTCCTTCT	0.502													T	81897059	C	T	81897059	2	4	336	1	0	0	0	0	0	0	0	1	11464	610	22	2		2	PAG1	8	81897059	Silent	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	26355230	81897059	64466963	14	22177											
OR5M10	390167	broad.mit.edu	37	chr11	56344882	56344882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcagtgatcactagggCgatgaagagaagacactgtg	15	7	12	7	1	2	4	2	2	0	2	2	6	2	4	0	1	1	0	0	1	4	1			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr11:56344882C>T	ENST00000526812.2	-	1	381	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						ATCACTAGGGCGATGAAGAGA	0.438													T	56344882	C	T	56344882	3	4	336	1	0	0	0	0	1	0	0	0	11249	768	27	1	635	1	OR5M10	11	56344882	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		56344882	78661634	15	22178											
FADS3	3995	broad.mit.edu	37	chr11	61644404	61644404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtaggataagaagaagCgggcatagaagctggcggcc	13	4	18	6	2	0	3	0	0	0	3	0	5	0	5	1	6	2	3	1	6	6	3			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr11:61644404C>T	ENST00000540820.1	-	8	989	c.917G>A	c.(916-918)cGc>cAc	p.R306H	FADS3_ENST00000527697.1_Missense_Mutation_p.R182H|FADS3_ENST00000525588.1_Missense_Mutation_p.R278H|FADS3_ENST00000278829.2_Missense_Mutation_p.R306H			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	306					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TAAGAAGAAGCGGGCATAGAA	0.622													T	61644404	C	T	61644404	3	4	336	1	0	0	0	0	1	0	0	0	5412	768	27	1	440	1	FADS3	11	61644404	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08	5299522	61644404	73362112	16	22179											
NALCN	259232	broad.mit.edu	37	chr13	101797192	101797192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggaaatttttcaaagattCgcaggcgtaaagggagcttt	12	13	11	5	2	1	1	1	0	0	1	2	3	1	3	0	3	1	3	0	3	4	6			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr13:101797192C>T	ENST00000251127.6	-	16	1976	c.1895G>A	c.(1894-1896)cGa>cAa	p.R632Q		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	632						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCAAAGATTCGCAGGCGTAA	0.348													T	101797192	C	T	101797192	3	4	336	1	0	0	0	0	1	0	0	0	10224	884	31	1	3437	1	NALCN	13	101797192	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		101797192	13372686	17	22180											
TRPM7	54822	broad.mit.edu	37	chr15	50886773	50886773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacgctggtacttccataCaatattggaaattgccttca	13	13	6	9	1	1	0	1	0	0	0	2	1	2	1	2	2	4	2	2	2	6	8			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr15:50886773C>T	ENST00000313478.7	-	24	3609	c.3328G>A	c.(3328-3330)Gta>Ata	p.V1110I	TRPM7_ENST00000560955.1_Missense_Mutation_p.V1110I	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	1110					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TACTTCCATACAATATTGGAA	0.299													T	50886773	C	T	50886773	3	4	336	1	0	0	0	0	1	0	0	0	16692	478	17	2	2333	2	TRPM7	15	50886773	Missense_Mutation	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		50886773	51644619	18	22181											
TCF12	6938	broad.mit.edu	37	chr15	57523450	57523451	+	Frame_Shift_Ins	INS	-	-	GCAA																															ttcgctagcactttctttatINSgcaaggtaagtactaccaaa																										TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr15:57523450_57523451insGCAA	ENST00000267811.5	+	9	984_985	c.680_681insGCAA	c.(679-684)atgcaafs	p.-228fs	TCF12_ENST00000438423.2_Frame_Shift_Ins_p.-228fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.-224fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.-228fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.-228fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.-58fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.-39fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.-58fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACTTTCTTTATGCAAGGTAAGT	0.386			T	TEC	extraskeletal myxoid chondrosarcoma								GCAA	57523451	-	GCAA	57523450	7	5	336	1	0	1	1	0	0	0	0	0	15787	1464	51	0	783	0	TCF12	15	57523450	Frame_Shift_Ins	INS	-	TCGA-DB-A75O-01A-11D-A32B-08	6636677	57523450	45007942	19	22182											
ITFG3	83986	broad.mit.edu	37	chr16	312148	312148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattggcctcagaggcagCcttggtgtggacggggaaag	9	7	17	8	1	1	2	1	0	0	2	1	4	1	4	2	6	1	1	2	6	1	2			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr16:312148C>T	ENST00000399932.3	+	7	1216	c.765C>T	c.(763-765)agC>agT	p.S255S	ITFG3_ENST00000450082.2_Silent_p.S255S|ITFG3_ENST00000600536.1_Silent_p.S255S|ITFG3_ENST00000301678.3_Silent_p.S255S|ITFG3_ENST00000442458.2_Silent_p.S255S|ITFG3_ENST00000301679.2_Silent_p.S255S	NM_001284497.1	NP_001271426.1	Q9H0X4	ITFG3_HUMAN	integrin alpha FG-GAP repeat containing 3	255						integral to membrane				central_nervous_system(3)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	16		all_cancers(16;0.000129)|all_epithelial(16;0.000206)|Hepatocellular(16;0.00264)|Lung NSC(18;0.0626)|all_lung(18;0.13)				TCAGAGGCAGCCTTGGTGTGG	0.587													T	312148	C	T	312148	2	4	336	1	0	0	0	0	0	0	0	1	7929	738	26	2		2	ITFG3	16	312148	Silent	SNP	C	TCGA-DB-A75O-01A-11D-A32B-08		312148	90042605	20	22183											
TP53	7157	broad.mit.edu	37	chr17	7579323	7579324	+	Frame_Shift_Ins	INS	-	-	A																															caactgaccgtgcaagtcacINSagacttggctgtcccagaat																										TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr17:7579323_7579324insA	ENST00000420246.2	-	4	495_496	c.363_364insT	c.(361-366)tctgtgfs	p.V122fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (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.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTGCAAGTCACAGACTTGGCTG	0.559		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)			A	7579324	-	A	7579323	7	5	336	1	0	1	1	0	0	0	0	0	16482	478	17	0	938	0	TP53	17	7579323	Frame_Shift_Ins	INS	-	TCGA-DB-A75O-01A-11D-A32B-08		7579323	73615887	21	22184											
PSMG1	8624	broad.mit.edu	37	chr21	40552362	40552362	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacaaatgatgacagaaatGctgtaaaaaacaattcacat	21	9	5	6	0	1	3	1	2	0	1	1	3	1	3	0	0	3	2	0	0	7	3			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chr21:40552362G>C	ENST00000331573.3	-	3	707	c.242C>G	c.(241-243)gCa>gGa	p.A81G	PSMG1_ENST00000380900.2_Splice_Site_p.A81G	NM_001261824.1|NM_003720.3	NP_001248753.1|NP_003711.1	O95456	PSMG1_HUMAN	proteasome (prosome, macropain) assembly chaperone 1	81					proteasome assembly	endoplasmic reticulum	protein binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	8		Prostate(19;8.44e-08)				TGACAGAAATGCTGTAAAAAA	0.358													C	40552362	G	C	40552362	5	2	336	1	0	0	0	0	0	0	1	0	12796	1333	46	4	644	4	PSMG1	21	40552362	Splice_Site	SNP	G	TCGA-DB-A75O-01A-11D-A32B-08		40552362	7577533	22	22185											
ATRX	546	broad.mit.edu	37	chrX	76875970	76875970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttcattttttagaataTggccttcatcacaaacaaca	14	14	4	9	0	3	1	3	0	0	1	3	1	3	1	1	1	3	1	1	1	5	6			TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chrX:76875970T>C	ENST00000373344.5	-	20	5379	c.5165A>G	c.(5164-5166)cAt>cGt	p.H1722R	ATRX_ENST00000395603.3_Missense_Mutation_p.H1684R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1722	Helicase ATP-binding.				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)	TTTTAGAATATGGCCTTCATC	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76875970	T	C	76875970	3	2	336	1	0	0	0	0	1	0	0	0	1213	1464	51	3	2377	3	ATRX	23	76875970	Missense_Mutation	SNP	T	TCGA-DB-A75O-01A-11D-A32B-08		76875970	78394590	23	22186											
MECP2	4204	broad.mit.edu	37	chrX	153363105	153363105	+	Frame_Shift_Del	DEL	G	G	-																															cctcctccgctcggcgcggcGgcggcggcggcggccatttt																										TCGA-DB-A75O-01A-11D-A32B-08	TCGA-DB-A75O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90e96e37-0f23-40b7-8277-527e8d8f0b76	b058749c-362f-4a5f-b0f7-4ab4ec256649	g.chrX:153363105delG	ENST00000453960.2	-	1	72	c.18delC	c.(16-18)gccfs	p.A8fs	MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCGGCgcggcggcggcggcgg	0.771													-	153363105	G	-	153363105	7	5	336	1	0	1	0	1	0	0	0	0	9498	1103	39	0	1520	0	MECP2	23	153363105	Frame_Shift_Del	DEL	G	TCGA-DB-A75O-01A-11D-A32B-08	76487135	153363105	1907455	24	22187											
CELF3	11189	broad.mit.edu	37	chr1	151678723	151678725	+	In_Frame_Del	DEL	TGC	TGC	-																															ctctttgctgctgctgctgtTgctgctgctgctgctgctgc																										TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr1:151678723_151678725delTGC	ENST00000290583.4	-	10	1894_1896	c.1101_1103delGCA	c.(1099-1104)cagcaa>caa	p.367_368QQ>Q	CELF3_ENST00000392706.3_In_Frame_Del_p.162_163QQ>Q|CELF3_ENST00000290585.4_In_Frame_Del_p.317_318QQ>Q|CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	367	Gln-rich.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding	p.Q367Q(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ctgctgctgttgctgctgctgct	0.66													-	151678725	TGC	-	151678723	7	5	337	1	0	1	0	1	0	0	0	0	3247	1812	63	0	306	0	CELF3	1	151678723	In_Frame_Del	DEL	TGC	TCGA-DB-A75P-01A-11D-A32B-08		151678723	97571898	1	22188											
ZNF608	57507	broad.mit.edu	37	chr5	124079813	124079815	+	In_Frame_Del	DEL	CTC	CTC	-																															ttcttgattcgcctgtggctCtcctcctcctcctcttcctt																										TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr5:124079813_124079815delCTC	ENST00000306315.5	-	1	1303_1305	c.868_870delGAG	c.(868-870)gagdel	p.E290del	ZNF608_ENST00000504926.1_Intron	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	290						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCTGTGGCTCTCCTCCTCCTCC	0.522													-	124079815	CTC	-	124079813	7	5	337	1	0	1	0	1	0	0	0	0	18135	912	32	0	3704	0	ZNF608	5	124079813	In_Frame_Del	DEL	CTC	TCGA-DB-A75P-01A-11D-A32B-08		124079813	56835447	2	22189											
LRFN2	57497	broad.mit.edu	37	chr6	40399771	40399771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctccggcagcattggcaGcaatgcaggtgaaggcacca	10	6	12	13	1	1	1	0	1	1	0	2	1	1	1	3	4	3	6	3	4	2	1			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr6:40399771G>A	ENST00000338305.6	-	2	1624	c.1082C>T	c.(1081-1083)gCt>gTt	p.A361V		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	361	Ig-like.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGCATTGGCAGCAATGCAGGT	0.607													A	40399771	G	A	40399771	3	1	337	1	0	0	0	0	1	0	0	0	9008	971	34	2	1295	2	LRFN2	6	40399771	Missense_Mutation	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		40399771	130715296	3	22190											
RELN	5649	broad.mit.edu	37	chr7	103141235	103141235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttggccctgagtatcccGgatcacagatgcactgttcc	8	11	10	12	1	1	2	1	1	0	1	3	3	3	3	3	2	1	4	3	2	1	3			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr7:103141235G>A	ENST00000424685.2	-	53	8783	c.8624C>T	c.(8623-8625)cCg>cTg	p.P2875L	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.P2875L|RELN_ENST00000428762.1_Missense_Mutation_p.P2875L			P78509	RELN_HUMAN	reelin	2875	EGF-like 7.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	p.P2875L(1)		NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGAGTATCCCGGATCACAGAT	0.517													A	103141235	G	A	103141235	3	1	337	1	0	0	0	0	1	0	0	0	13308	1116	39	1	1810	1	RELN	7	103141235	Missense_Mutation	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		103141235	55997428	4	22191											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	337	1	0	0	0	0	1	0	0	0	1505	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-DB-A75P-01A-11D-A32B-08	37311901	140453136	18685527	5	22192											
EYA1	2138	broad.mit.edu	37	chr8	72211442	72211442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactgtgcgtactgaccctgGccaaaactgggataagacgg	11	8	12	10	2	0	2	0	1	0	1	0	3	0	3	2	3	4	1	2	3	5	3			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr8:72211442G>A	ENST00000340726.3	-	9	1305	c.666C>T	c.(664-666)ggC>ggT	p.G222G	EYA1_ENST00000388740.3_Silent_p.G189G|EYA1_ENST00000419131.1_Silent_p.G217G|EYA1_ENST00000388743.2_Silent_p.G221G|EYA1_ENST00000303824.7_Silent_p.G216G|EYA1_ENST00000388742.4_Silent_p.G222G|EYA1_ENST00000388741.2_Silent_p.G188G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	222					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			ACTGACCCTGGCCAAAACTGG	0.443													A	72211442	G	A	72211442	2	1	337	1	0	0	0	0	0	0	0	1	5370	1190	42	2		2	EYA1	8	72211442	Silent	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		72211442	74152580	6	22193											
ATP2A3	489	broad.mit.edu	37	chr17	3844559	3844559	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccacctcaggtcgcggCgggtccagcatgcctacgca	7	5	13	16	4	1	0	1	0	0	0	3	0	2	0	4	3	4	3	4	3	1	1			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chr17:3844559C>A	ENST00000309890.7	-	14	1956	c.1806G>T	c.(1804-1806)ccG>ccT	p.P602P	ATP2A3_ENST00000397041.3_Silent_p.P602P|ATP2A3_ENST00000397035.3_Silent_p.P602P|ATP2A3_ENST00000352011.3_Silent_p.P602P|ATP2A3_ENST00000397043.3_Silent_p.P602P|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000359983.3_Silent_p.P602P	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	602					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CAGGTCGCGGCGGGTCCAGCA	0.647													A	3844559	C	A	3844559	2	1	337	1	0	0	0	0	0	0	0	1	1143	755	27	4		4	ATP2A3	17	3844559	Silent	SNP	C	TCGA-DB-A75P-01A-11D-A32B-08		3844559	77350651	7	22194											
CNGA2	1260	broad.mit.edu	37	chrX	150912423	150912423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggggattacatttgccGcaaaggggacatcggcaagg	10	8	14	9	2	0	0	0	0	0	0	2	2	1	2	2	6	2	2	2	6	3	2			TCGA-DB-A75P-01A-11D-A32B-08	TCGA-DB-A75P-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c3e439c8-fbfd-43f4-9082-9955c2941eae	17162650-c8fc-48ac-9387-5a715f85e0c5	g.chrX:150912423G>A	ENST00000329903.4	+	6	1481	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	483					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					tacatttgccgcaaaggggac	0.527													A	150912423	G	A	150912423	3	1	337	1	0	0	0	0	1	0	0	0	3628	1087	38	1	1470	1	CNGA2	23	150912423	Missense_Mutation	SNP	G	TCGA-DB-A75P-01A-11D-A32B-08		150912423	4358137	8	22195											
LPHN2	23266	broad.mit.edu	37	chr1	82456736	82456736	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccagatcagcaggggcaaTagtgatggttatataatccc	13	10	10	8	0	1	2	1	1	0	1	2	2	2	2	2	3	2	3	2	3	6	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:82456736T>C	ENST00000370728.1	+	25	4932	c.4287T>C	c.(4285-4287)aaT>aaC	p.N1429N	LPHN2_ENST00000370725.1_Silent_p.N1444N|LPHN2_ENST00000359929.3_Silent_p.N1373N|LPHN2_ENST00000271029.4_Silent_p.N1401N|LPHN2_ENST00000370730.1_Silent_p.N1386N|LPHN2_ENST00000394879.1_Silent_p.N1431N|LPHN2_ENST00000319517.6_Silent_p.N1373N|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000370723.1_Silent_p.N1431N|LPHN2_ENST00000370717.2_Silent_p.N1444N|LPHN2_ENST00000335786.5_Silent_p.N1386N|LPHN2_ENST00000370727.1_Silent_p.N1401N|LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000370721.1_Silent_p.N1354N			O95490	LPHN2_HUMAN	latrophilin 2	1429					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		gcaggggcaatagtgatggtt	0.428													C	82456736	T	C	82456736	2	2	338	1	0	0	0	0	0	0	0	1	8986	1403	49	3		3	LPHN2	1	82456736	Silent	SNP	T	TCGA-DH-5140-01A-01D-1468-08		82456736	166793885	1	22196											
COL11A1	1301	broad.mit.edu	37	chr1	103491403	103491403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgataacttttcttctTcttggatgaaaatttttcag	9	20	6	6	0	4	2	1	2	3	0	4	3	4	3	0	1	2	1	0	1	3	9			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:103491403T>C	ENST00000358392.2	-	6	1203	c.886A>G	c.(886-888)Aag>Gag	p.K296E	COL11A1_ENST00000370096.3_Intron|COL11A1_ENST00000512756.1_Intron|COL11A1_ENST00000353414.4_Intron	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	297	Nonhelical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTTCTTCTTCTTGGATGAA	0.363													C	103491403	T	C	103491403	3	2	338	1	0	0	0	0	1	0	0	0	3698	1792	62	3	4818	3	COL11A1	1	103491403	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	21034667	103491403	145759218	2	22197											
RFWD2	64326	broad.mit.edu	37	chr1	176132075	176132075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggccaaatcaaggttaTcttggtcagttcccaaccaa	12	11	7	11	0	3	0	2	0	1	0	4	0	4	0	3	3	1	2	3	3	5	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:176132075T>C	ENST00000367669.3	-	5	1206	c.692A>G	c.(691-693)gAt>gGt	p.D231G	RFWD2_ENST00000308769.8_Missense_Mutation_p.D227G	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	231					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCAAGGTTATCTTGGTCAGT	0.358													C	176132075	T	C	176132075	3	2	338	1	0	0	0	0	1	0	0	0	13348	1435	50	3	1567	3	RFWD2	1	176132075	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	72640672	176132075	73118546	3	22198											
LAMC1	3915	broad.mit.edu	37	chr1	183091039	183091039	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagtccatgtgtgctttgCgcctgcaatggacacagcga	9	10	11	11	2	0	0	0	0	0	0	1	2	1	1	2	1	5	2	2	1	2	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:183091039C>T	ENST00000258341.4	+	12	2429	c.2172C>T	c.(2170-2172)tgC>tgT	p.C724C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	724	Laminin EGF-like 6.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.C724C(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTGTGCTTTGCGCCTGCAATG	0.478													T	183091039	C	T	183091039	2	4	338	1	0	0	0	0	0	0	0	1	8673	776	27	1		1	LAMC1	1	183091039	Silent	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6958964	183091039	66159582	4	22199											
KISS1	3814	broad.mit.edu	37	chr1	204159803	204159803	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctgggggctcccggagctctCggggggcggggacagcgagg	4	4	22	11	4	1	0	0	0	1	0	3	3	2	2	1	9	2	2	1	9	0	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr1:204159803C>G	ENST00000367194.4	-	3	374	c.226G>C	c.(226-228)Gag>Cag	p.E76Q		NM_002256.3	NP_002247.3	Q15726	KISS1_HUMAN	KiSS-1 metastasis-suppressor	76					cytoskeleton organization	extracellular region	protein binding			large_intestine(1)|lung(1)|ovary(1)	3	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)	Breast(1374;9.42e-05)	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.069)|Kidney(21;0.0934)|Epithelial(59;0.239)	Colorectal(1306;0.0129)		CCGGAGCTCTCGGGGGGCGGG	0.756													G	204159803	C	G	204159803	3	3	338	1	0	0	0	0	1	0	0	0	8385	893	31	4	194	4	KISS1	1	204159803	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	21068764	204159803	45090818	5	22200											
APOB	338	broad.mit.edu	37	chr2	21228172	21228172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaatggtctgctcaggcacGatgatggtgggcaactcaaa	11	9	12	9	1	4	1	3	1	1	0	4	2	4	1	0	4	2	3	0	4	3	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:21228172G>A	ENST00000233242.1	-	26	11695	c.11568C>T	c.(11566-11568)atC>atT	p.I3856I		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3856					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCAGGCACGATGATGGTGG	0.473													A	21228172	G	A	21228172	2	1	338	1	0	0	0	0	0	0	0	1	788	1048	37	1		1	APOB	2	21228172	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		21228172	221971201	6	22201											
IL1R2	7850	broad.mit.edu	37	chr2	102626194	102626194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actctgctaggacggtcccaGgagaagaagagacacggatg	13	5	14	9	2	1	3	0	0	1	3	2	7	2	5	1	4	1	1	1	4	3	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:102626194G>A	ENST00000332549.3	+	3	467	c.238G>A	c.(238-240)Gga>Aga	p.G80R	IL1R2_ENST00000441002.1_Missense_Mutation_p.G80R|IL1R2_ENST00000393414.2_Missense_Mutation_p.G80R	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	80	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GACGGTCCCAGGAGAAGAAGA	0.592													A	102626194	G	A	102626194	3	1	338	1	0	0	0	0	1	0	0	0	7717	1001	35	2	244	2	IL1R2	2	102626194	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	81398022	102626194	140573179	7	22202											
ACOXL	55289	broad.mit.edu	37	chr2	111562956	111562956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagctgtggctttccaagCtatgggtgccatgaaggtaa	10	12	12	7	0	0	1	0	1	0	0	1	1	1	1	2	3	3	4	2	3	5	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:111562956C>T	ENST00000389811.4	+	9	961	c.737C>T	c.(736-738)gCt>gTt	p.A246V	ACOXL_ENST00000439055.1_Missense_Mutation_p.A246V|ACOXL_ENST00000340561.4_Missense_Mutation_p.A246V			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	246					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						GCTTTCCAAGCTATGGGTGCC	0.453													T	111562956	C	T	111562956	3	4	338	1	0	0	0	0	1	0	0	0	161	797	28	2	767	2	ACOXL	2	111562956	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	8936762	111562956	131636417	8	22203											
UGGT1	56886	broad.mit.edu	37	chr2	128938471	128938471	+	Frame_Shift_Del	DEL	T	T	-																															tgtctaaaaataggagtttaTaccttacatggcaaatgaat																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:128938471delT	ENST00000375990.3	+	36	4239	c.3836delT	c.(3835-3837)atafs	p.I1279fs	UGGT1_ENST00000259253.6_Frame_Shift_Del_p.I1303fs			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1303	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						TAGGAGTTTATACCTTACATG	0.373													-	128938471	T	-	128938471	7	5	338	1	0	1	0	1	0	0	0	0	17043	1406	49	0	4050	0	UGGT1	2	128938471	Frame_Shift_Del	DEL	T	TCGA-DH-5140-01A-01D-1468-08	17375515	128938471	114260902	9	22204											
ITGB6	3694	broad.mit.edu	37	chr2	160998543	160998543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttccggagtccttctgaaGtagacctactgtagctccag	8	12	10	11	1	1	2	0	1	1	1	4	3	4	3	4	1	2	4	4	1	4	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr2:160998543G>A	ENST00000283249.2	-	8	1294	c.1057C>T	c.(1057-1059)Ctt>Ttt	p.L353F	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.L353F|ITGB6_ENST00000409967.2_Missense_Mutation_p.L353F|ITGB6_ENST00000428609.2_Missense_Mutation_p.L311F	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	353	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCCTTCTGAAGTAGACCTACT	0.373													A	160998543	G	A	160998543	3	1	338	1	0	0	0	0	1	0	0	0	7957	1029	36	2	1341	2	ITGB6	2	160998543	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	32060072	160998543	82200830	10	22205											
SETD2	29072	broad.mit.edu	37	chr3	47103668	47103705	+	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-																															cttacctgtcatctggccttTttgttccccgctcataggca																								rs149758106		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:47103668_47103705delTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	ENST00000409792.3	-	14	6283_6320	c.6241_6278delCTCTCACCACCCTCTTCTGCCTATGAGCGGGGAACAAA	c.(6241-6279)ctctcaccaccctcttctgcctatgagcggggaacaaaafs	p.LSPPSSAYERGTK2081fs	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2081					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATCTGGCCTTTTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAGGGAGCTTCTT	0.429			"N, F, S, Mis"		clear cell renal carcinoma								-	47103705	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	-	47103668	7	5	338	1	0	1	0	1	0	0	0	0	14224	1841	64	0	1448	0	SETD2	3	47103668	Frame_Shift_Del	DEL	TTTGTTCCCCGCTCATAGGCAGAAGAGGGTGGTGAGAG	TCGA-DH-5140-01A-01D-1468-08		47103668	150918762	11	22206											
NDUFAF3	25915	broad.mit.edu	37	chr3	49059582	49059582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgcgttggtcagccatggCcaccgctctcgcgctacgta	5	8	12	16	7	2	0	1	0	1	0	3	0	2	0	3	2	2	4	3	2	2	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:49059582C>G	ENST00000326925.6	+	1	1139	c.5C>G	c.(4-6)gCc>gGc	p.A2G	NDUFAF3_ENST00000326912.4_Intron|DALRD3_ENST00000496568.1_5'UTR|NDUFAF3_ENST00000451378.2_Intron|NDUFAF3_ENST00000395458.2_Intron	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	2					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TCAGCCATGGCCACCGCTCTC	0.716											OREG0015566	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	49059582	C	G	49059582	3	3	338	1	0	0	0	0	1	0	0	0	10352	739	26	4	7	4	NDUFAF3	3	49059582	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	1955914	49059582	148962848	12	22207											
TP63	8626	broad.mit.edu	37	chr3	189612149	189612149	+	Frame_Shift_Del	DEL	G	G	-																															tgtgggctccagtgagacccGgggtgagcgtgttattgatg																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:189612149delG	ENST00000264731.3	+	14	1990	c.1901delG	c.(1900-1902)cggfs	p.R634fs	TP63_ENST00000456148.1_Frame_Shift_Del_p.R536fs|TP63_ENST00000382063.4_Frame_Shift_Del_p.R549fs|TP63_ENST00000449992.1_Frame_Shift_Del_p.R455fs|TP63_ENST00000320472.5_3'UTR|TP63_ENST00000440651.2_Frame_Shift_Del_p.R630fs|TP63_ENST00000354600.5_Frame_Shift_Del_p.R540fs	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	634	Transactivation inhibition.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGTGAGACCCGGGGTGAGCGT	0.567										HNSCC(45;0.13)			-	189612149	G	-	189612149	7	5	338	1	0	1	0	1	0	0	0	0	16493	1116	39	0	2120	0	TP63	3	189612149	Frame_Shift_Del	DEL	G	TCGA-DH-5140-01A-01D-1468-08	140552567	189612149	8410281	13	22208											
UBXN7	26043	broad.mit.edu	37	chr3	196094958	196094958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagttgtccatgttcacCcagaaatcccgtcacttggt	9	12	7	13	1	2	1	2	0	0	1	5	1	5	1	4	1	0	2	4	1	1	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr3:196094958C>T	ENST00000296328.4	-	8	849	c.775G>A	c.(775-777)Ggt>Agt	p.G259S	UBXN7_ENST00000535858.1_Missense_Mutation_p.G111S|UBXN7_ENST00000428095.1_Missense_Mutation_p.G97S	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	259							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CCATGTTCACCCAGAAATCCC	0.398													T	196094958	C	T	196094958	3	4	338	1	0	0	0	0	1	0	0	0	17020	623	22	2	710	2	UBXN7	3	196094958	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6482809	196094958	1927472	14	22209											
PCDH7	5099	broad.mit.edu	37	chr4	31144181	31144181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcagactcctgctggatgCcggtccgcacttctccggag	6	9	11	15	3	2	1	1	0	1	1	5	3	4	3	4	3	2	2	4	3	0	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr4:31144181C>T	ENST00000543491.1	+	3	3478	c.3478C>T	c.(3478-3480)Ccg>Tcg	p.P1160S				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTGCTGGATGCCGGTCCGCAC	0.537													T	31144181	C	T	31144181	3	4	338	1	0	0	0	0	1	0	0	0	11592	739	26	2	3573	2	PCDH7	4	31144181	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		31144181	160010095	15	22210											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247163	26247163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgatggcacttggcacCgcctttcccaaggccttttc	5	12	9	15	2	0	0	0	0	0	0	2	1	1	0	4	3	1	2	4	3	1	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:26247163C>T	ENST00000244537.4	-	1	96	c.43G>A	c.(43-45)Ggt>Agt	p.G15S		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	15					nucleosome assembly	nucleosome|nucleus	DNA binding	p.G15S(1)		breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CACTTGGCACCGCCTTTCCCA	0.517													T	26247163	C	T	26247163	3	4	338	1	0	0	0	0	1	0	0	0	7226	652	23	1	257	1	HIST1H4G	6	26247163	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		26247163	144867904	16	22211											
HLA-DQA2	3118	broad.mit.edu	37	chr6	32713607	32713607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttccaagtttcctgtgaCgctgggtcagcccaacaccc	7	11	9	14	1	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	2	3	rs144060347		TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr6:32713607C>T	ENST00000374940.3	+	3	473	c.371C>T	c.(370-372)aCg>aTg	p.T124M		NM_020056.4	NP_064440.1	P01906	DQA2_HUMAN	major histocompatibility complex, class II, DQ alpha 2	124	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			endometrium(2)|large_intestine(3)|lung(7)|skin(1)	13					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTTCCTGTGACGCTGGGTCAG	0.507													T	32713607	C	T	32713607	3	4	338	1	0	0	0	0	1	0	0	0	7260	536	19	1	381	1	HLA-DQA2	6	32713607	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	6466444	32713607	138401460	17	22212											
SLC25A40	55972	broad.mit.edu	37	chr7	87466058	87466058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttacctgaaaataatccGgaaaatccatttttagcaac	15	14	4	8	1	0	1	0	1	0	0	2	2	2	2	3	1	3	1	3	1	8	7			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:87466058G>A	ENST00000341119.5	-	11	1237	c.891C>T	c.(889-891)tcC>tcT	p.S297S		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	297					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					AAAATAATCCGGAAAATCCAT	0.259													A	87466058	G	A	87466058	2	1	338	1	0	0	0	0	0	0	0	1	14599	1103	39	1		1	SLC25A40	7	87466058	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		87466058	71672605	18	22213											
CPA1	1357	broad.mit.edu	37	chr7	130024455	130024455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccaacaggaactgggacGctggctttgggtgtaaggcc	9	7	14	11	1	0	0	0	0	0	0	0	2	0	2	3	5	2	3	3	5	3	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr7:130024455G>A	ENST00000011292.3	+	7	925	c.775G>A	c.(775-777)Gct>Act	p.A259T	CPA1_ENST00000484324.1_Missense_Mutation_p.A171T	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	259					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GAACTGGGACGCTGGCTTTGG	0.602													A	130024455	G	A	130024455	3	1	338	1	0	0	0	0	1	0	0	0	3820	1087	38	1	801	1	CPA1	7	130024455	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	42558397	130024455	29114208	19	22214											
PHF20L1	51105	broad.mit.edu	37	chr8	133837542	133837542	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagataaggaaagaagagAgaagagagacaaagatcact	24	3	11	3	0	1	7	1	0	0	7	1	10	1	8	0	1	0	0	0	1	7	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr8:133837542A>C	ENST00000395386.2	+	14	1969	c.1670A>C	c.(1669-1671)gAg>gCg	p.E557A	PHF20L1_ENST00000395390.2_Missense_Mutation_p.E532A|PHF20L1_ENST00000220847.7_5'UTR	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	557	Lys-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			gaaagaagagagaagagagac	0.338													C	133837542	A	C	133837542	3	2	338	1	0	0	0	0	1	0	0	0	11909	304	11	5	1816	5	PHF20L1	8	133837542	Missense_Mutation	SNP	A	TCGA-DH-5140-01A-01D-1468-08		133837542	12526480	20	22215											
SLC39A12	221074	broad.mit.edu	37	chr10	18276462	18276462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacactgggctccatgctggGgacagcgctggtccttttcc	5	10	12	14	1	0	0	0	0	0	0	3	1	3	1	3	4	2	3	3	4	0	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr10:18276462G>A	ENST00000377369.2	+	7	1424	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCATGCTGGGGACAGCGCTG	0.562													A	18276462	G	A	18276462	3	1	338	1	0	0	0	0	1	0	0	0	14709	1232	43	2	1173	2	SLC39A12	10	18276462	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08		18276462	117258285	21	22216											
PELI3	246330	broad.mit.edu	37	chr11	66243277	66243277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcccgtggccgcacagCgcccgacaaacagcagccct	9	2	10	20	4	0	0	0	0	0	0	0	1	0	0	5	1	5	2	5	1	1	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:66243277C>T	ENST00000349459.6	+	7	1261	c.977C>T	c.(976-978)gCg>gTg	p.A326V	CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000320740.7_Missense_Mutation_p.A350V|PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	350						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GGCCGCACAGCGCCCGACAAA	0.736													T	66243277	C	T	66243277	3	4	338	1	0	0	0	0	1	0	0	0	11799	768	27	1	1075	1	PELI3	11	66243277	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		66243277	68763239	22	22217											
INTS4	92105	broad.mit.edu	37	chr11	77639508	77639508	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcatcgttgaacatgtcAactaggaaatcaaggcactt	14	12	7	8	1	3	1	3	1	0	0	4	2	3	2	0	2	2	2	0	2	5	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:77639508A>T	ENST00000534064.1	-	11	1285	c.1251T>A	c.(1249-1251)gtT>gtA	p.V417V	INTS4_ENST00000529807.1_Silent_p.V417V|INTS4_ENST00000525931.1_5'UTR	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	417					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGAACATGTCAACTAGGAAAT	0.443													T	77639508	A	T	77639508	2	4	338	1	0	0	0	0	0	0	0	1	7838	117	5	5		5	INTS4	11	77639508	Silent	SNP	A	TCGA-DH-5140-01A-01D-1468-08	11396231	77639508	57367008	23	22218											
MAML2	84441	broad.mit.edu	37	chr11	95712904	95712904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacaattgctttgggtttctCtgttgggtcaattgattcat	8	18	9	6	0	3	1	2	1	1	0	4	1	3	1	0	2	2	3	0	2	3	6			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr11:95712904C>G	ENST00000524717.1	-	5	3963	c.2679G>C	c.(2677-2679)caG>caC	p.Q893H		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	893					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity		CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				TTGGGTTTCTCTGTTGGGTCA	0.408			T	"MECT1, CRTC3"	salivary gland mucoepidermoid								G	95712904	C	G	95712904	3	3	338	1	0	0	0	0	1	0	0	0	9281	912	32	4	795	4	MAML2	11	95712904	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	18073396	95712904	39293612	24	22219											
ATN1	1822	broad.mit.edu	37	chr12	7046127	7046127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcaggccccaatggccCtccagtctcttcctcttcca	7	9	6	19	0	2	0	0	0	2	0	6	0	5	0	7	2	1	1	7	2	2	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:7046127C>T	ENST00000356654.4	+	5	1934	c.1697C>T	c.(1696-1698)cCt>cTt	p.P566L	ATN1_ENST00000396684.2_Missense_Mutation_p.P566L	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	566	Involved in binding BAIAP2.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCCAATGGCCCTCCAGTCTCT	0.637													T	7046127	C	T	7046127	3	4	338	1	0	0	0	0	1	0	0	0	1116	681	24	2	1711	2	ATN1	12	7046127	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		7046127	126805768	25	22220											
ZCRB1	85437	broad.mit.edu	37	chr12	42711595	42711595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaatagcttacctgtttGttgtttattgccctggtaca	8	17	9	7	0	0	1	0	1	0	0	0	2	0	1	2	1	4	5	2	1	5	8			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr12:42711595G>T	ENST00000266529.3	-	4	402	c.219C>A	c.(217-219)aaC>aaA	p.N73K	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.N32K	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	73	RRM.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		TTACCTGTTTGTTGTTTATTG	0.393													T	42711595	G	T	42711595	3	4	338	1	0	0	0	0	1	0	0	0	17697	1368	48	4	454	4	ZCRB1	12	42711595	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	35665468	42711595	91140300	26	22221											
SPTBN5	51332	broad.mit.edu	37	chr15	42172441	42172441	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgcttctccagccacaActggagctccccacaggaac	9	8	8	16	0	2	0	0	0	2	0	4	2	3	2	4	2	5	2	4	2	2	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:42172441A>G	ENST00000320955.6	-	14	2955	c.2728T>C	c.(2728-2730)Ttg>Ctg	p.L910L		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	910					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCAGCCACAACTGGAGCTCC	0.632													G	42172441	A	G	42172441	2	3	338	1	0	0	0	0	0	0	0	1	15218	40	2	3		3	SPTBN5	15	42172441	Silent	SNP	A	TCGA-DH-5140-01A-01D-1468-08		42172441	60358951	27	22222											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51397261	51397261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtcttgtttgtaacgtgGcatcccttgtgccttgggtc	4	16	12	9	1	1	1	0	1	1	0	3	1	2	1	2	2	2	3	2	2	1	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:51397261G>A	ENST00000327536.5	-	1	212	c.113C>T	c.(112-114)gCc>gTc	p.A38V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	38			A -> T (in dbSNP:rs17647084).							endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		TTGTAACGTGGCATCCCTTGT	0.522													A	51397261	G	A	51397261	3	1	338	1	0	0	0	0	1	0	0	0	16379	1203	42	2	777	2	TNFAIP8L3	15	51397261	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	9224820	51397261	51134131	28	22223											
ACAN	176	broad.mit.edu	37	chr15	89398499	89398499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggacagggcaagtggactgCcctctggagacctggactcc	8	6	15	12	0	1	1	0	0	1	1	2	5	2	4	3	5	1	1	3	5	1	0			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr15:89398499C>T	ENST00000439576.2	+	12	3057	c.2683C>T	c.(2683-2685)Ccc>Tcc	p.P895S	ACAN_ENST00000352105.7_Missense_Mutation_p.P895S|ACAN_ENST00000561243.1_Missense_Mutation_p.P895S|ACAN_ENST00000559004.1_Missense_Mutation_p.P895S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	895					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AAGTGGACTGCCCTCTGGAGA	0.572													T	89398499	C	T	89398499	3	4	338	1	0	0	0	0	1	0	0	0	117	739	26	2	2725	2	ACAN	15	89398499	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	38001238	89398499	13132893	29	22224											
ABCC12	94160	broad.mit.edu	37	chr16	48174762	48174762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaagggctatgcacaGtccaatgccaacccagactt	14	6	9	12	0	0	1	0	0	0	1	1	1	1	1	3	2	3	3	3	2	5	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr16:48174762G>A	ENST00000311303.3	-	4	838	c.493C>T	c.(493-495)Ctg>Ttg	p.L165L	ABCC12_ENST00000416054.1_Silent_p.L165L|ABCC12_ENST00000448542.1_Silent_p.L165L	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	165	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				GCTATGCACAGTCCAATGCCA	0.537													A	48174762	G	A	48174762	2	1	338	1	0	0	0	0	0	0	0	1	52	1020	36	2		2	ABCC12	16	48174762	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		48174762	42179991	30	22225											
TP53	7157	broad.mit.edu	37	chr17	7574025	7574025	+	Frame_Shift_Del	DEL	C	C	-																															aacatctcgaagcgctcacgCccacggatctgcagcaacag																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574025delC	ENST00000269305.4	-	10	1191	c.1002delG	c.(1000-1002)gggfs	p.G334fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.G334fs|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	334	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.I332fs*5(1)|p.?(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)		AGCGCTCACGCCCACGGATCT	0.522		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)			-	7574025	C	-	7574025	7	5	338	1	0	1	0	1	0	0	0	0	16482	726	26	0	187	0	TP53	17	7574025	Frame_Shift_Del	DEL	C	TCGA-DH-5140-01A-01D-1468-08		7574025	73621185	31	22226	34	2									
TP53	7157	broad.mit.edu	37	chr17	7574035	7574035	+	Splice_Site	SNP	T	T	G																															agcgctcacgcccacggatcTgcagcaacagaggaggggga																										TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7574035T>G	ENST00000420246.2	-	11	1259		c.e11-2		TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000455263.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(10)|p.0?(8)|p.I332fs*49(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)		CCCACGGATCTGCAGCAACAG	0.507		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)			G	7574035	T	G	7574035	5	3	338	1	0	0	0	0	0	0	1	0	16482	1594	55	5	197	5	TP53	17	7574035	Splice_Site	SNP	T	TCGA-DH-5140-01A-01D-1468-08	10	7574035	73621175	32	22227	34	2									
TP53	7157	broad.mit.edu	37	chr17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaggaactgttacacaTgtagttgtagtggatggtgg	10	12	14	5	0	0	0	0	0	0	0	0	2	0	2	0	4	3	5	0	4	4	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:7577572T>C	ENST00000420246.2	-	7	841	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)		CTGTTACACATGTAGTTGTAG	0.572		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)			C	7577572	T	C	7577572	3	2	338	1	0	0	0	0	1	0	0	0	16482	1464	51	3	581	3	TP53	17	7577572	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	3537	7577572	73617638	33	22228											
NF1	4763	broad.mit.edu	37	chr17	29556166	29556166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatgactggcttccttTgtgcccttgggggagtgtgc	5	13	13	10	0	1	1	1	1	0	0	2	2	2	2	2	3	3	1	2	3	1	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:29556166T>C	ENST00000358273.4	+	21	2916	c.2533T>C	c.(2533-2535)Tgt>Cgt	p.C845R	NF1_ENST00000356175.3_Missense_Mutation_p.C845R	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	845					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCTTCCTTTGTGCCCTTGG	0.512			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29556166	T	C	29556166	3	2	338	1	0	0	0	0	1	0	0	0	10432	1812	63	3	2676	3	NF1	17	29556166	Missense_Mutation	SNP	T	TCGA-DH-5140-01A-01D-1468-08	21978594	29556166	51639044	34	22229											
CCDC40	55036	broad.mit.edu	37	chr17	78032380	78032380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcgtgacgacatccGcgtgatgacacaagtggtaa	12	7	13	9	4	0	3	0	3	0	0	1	5	1	4	1	2	1	1	1	2	2	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr17:78032380G>A	ENST00000397545.4	+	8	1274	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	CCDC40_ENST00000374877.3_Missense_Mutation_p.R416H|CCDC40_ENST00000269318.5_Missense_Mutation_p.R416H|CCDC40_ENST00000374876.4_Missense_Mutation_p.R416H	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	416					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GACGACATCCGCGTGATGACA	0.537													A	78032380	G	A	78032380	3	1	338	1	0	0	0	0	1	0	0	0	2839	1087	38	1	1277	1	CCDC40	17	78032380	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	48476214	78032380	3162830	35	22230											
PLIN4	729359	broad.mit.edu	37	chr19	4511095	4511095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtcactgcatccttagcGccactcagcaccgtcttggc	7	10	9	15	2	3	0	2	0	1	0	4	0	4	0	3	1	3	3	3	1	2	3			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:4511095G>A	ENST00000301286.3	-	3	2834	c.2835C>T	c.(2833-2835)ggC>ggT	p.G945G		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	945	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CATCCTTAGCGCCACTCAGCA	0.592													A	4511095	G	A	4511095	2	1	338	1	0	0	0	0	0	0	0	1	12169	1074	38	1		1	PLIN4	19	4511095	Silent	SNP	G	TCGA-DH-5140-01A-01D-1468-08		4511095	54617888	36	22231											
NOTCH3	4854	broad.mit.edu	37	chr19	15281250	15281250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagggtgctgtgctcgCgcttgcgccgggccaccatg	5	7	15	14	4	0	1	0	0	0	1	1	1	0	1	4	2	3	3	4	2	0	1			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:15281250C>T	ENST00000263388.2	-	27	5081	c.5006G>A	c.(5005-5007)cGc>cAc	p.R1669H		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1669					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GCTGTGCTCGCGCTTGCGCCG	0.677													T	15281250	C	T	15281250	3	4	338	1	0	0	0	0	1	0	0	0	10626	768	27	1	1987	1	NOTCH3	19	15281250	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	10770155	15281250	43847733	37	22232											
SLC7A9	11136	broad.mit.edu	37	chr19	33350866	33350866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgataatggccaaaggcaGgtttctgggaggggcaatga	12	8	16	5	0	1	2	0	2	1	0	1	4	1	3	1	6	0	3	1	6	3	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr19:33350866G>T	ENST00000023064.4	-	8	945	c.754C>A	c.(754-756)Ctg>Atg	p.L252M	SLC7A9_ENST00000587772.1_Missense_Mutation_p.L252M|SLC7A9_ENST00000590341.1_Missense_Mutation_p.L252M	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	252					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GCCAAAGGCAGGTTTCTGGGA	0.602													T	33350866	G	T	33350866	3	4	338	1	0	0	0	0	1	0	0	0	14799	991	35	4	733	4	SLC7A9	19	33350866	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08	18069616	33350866	25778117	38	22233											
RBM11	54033	broad.mit.edu	37	chr21	15599378	15599378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacctttatcagatgacaGctccacttcctaatagtgca	11	12	6	12	0	1	3	1	2	0	1	3	3	3	3	3	0	2	2	3	0	3	5			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chr21:15599378G>A	ENST00000400577.3	+	5	619	c.610G>A	c.(610-612)Gct>Act	p.A204T	RBM11_ENST00000468643.1_3'UTR	NM_144770.3	NP_658983.3	P57052	RBM11_HUMAN	RNA binding motif protein 11	204							nucleotide binding|RNA binding			endometrium(3)|kidney(3)|lung(7)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16				Epithelial(23;0.000314)|COAD - Colon adenocarcinoma(22;0.00242)|Colorectal(24;0.0129)|Lung(58;0.141)		TCAGATGACAGCTCCACTTCC	0.463													A	15599378	G	A	15599378	3	1	338	1	0	0	0	0	1	0	0	0	13200	971	34	2	628	2	RBM11	21	15599378	Missense_Mutation	SNP	G	TCGA-DH-5140-01A-01D-1468-08		15599378	32530517	39	22234											
CPXCR1	53336	broad.mit.edu	37	chrX	88009308	88009308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagacaacattcatgcagctCttctgggaattaaattaaat	16	12	6	7	0	3	1	1	0	2	1	3	2	3	2	0	1	3	2	0	1	7	4			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:88009308C>G	ENST00000276127.4	+	3	1152	c.893C>G	c.(892-894)tCt>tGt	p.S298C	CPXCR1_ENST00000373111.1_Missense_Mutation_p.S298C	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	298						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TCATGCAGCTCTTCTGGGAAT	0.294													G	88009308	C	G	88009308	3	3	338	1	0	0	0	0	1	0	0	0	3867	913	32	4	895	4	CPXCR1	23	88009308	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08		88009308	67261252	40	22235											
IGSF1	3547	broad.mit.edu	37	chrX	130416639	130416639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccactggtcctcgacacCgtaggctcacattctgaccc	8	9	7	17	2	2	1	1	1	1	0	5	2	4	1	4	2	0	2	4	2	1	2			TCGA-DH-5140-01A-01D-1468-08	TCGA-DH-5140-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4472483c-47e2-47f0-b02f-6a8cb4c7bd96	310c380c-c166-4480-ae74-62a9ff686291	g.chrX:130416639C>G	ENST00000370904.1	-	13	1908	c.998G>C	c.(997-999)cGg>cCg	p.R333P	IGSF1_ENST00000370910.1_Missense_Mutation_p.R333P|IGSF1_ENST00000370903.3_Missense_Mutation_p.R342P|IGSF1_ENST00000361420.3_Missense_Mutation_p.R342P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	342	Ig-like C2-type 4.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCCTCGACACCGTAGGCTCAC	0.498													G	130416639	C	G	130416639	3	3	338	1	0	0	0	0	1	0	0	0	7654	652	23	4	3056	4	IGSF1	23	130416639	Missense_Mutation	SNP	C	TCGA-DH-5140-01A-01D-1468-08	42407331	130416639	24853921	41	22236											
MIB2	142678	broad.mit.edu	37	chr1	1560729	1560729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccttccagcacggggacaAggtcaagtgtctgctggaca	9	7	13	12	1	2	0	1	0	1	0	3	2	3	2	2	4	2	2	2	4	2	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:1560729A>G	ENST00000357210.4	+	7	1175	c.959A>G	c.(958-960)aAg>aGg	p.K320R	MIB2_ENST00000378710.3_Missense_Mutation_p.K320R|MIB2_ENST00000504599.1_Missense_Mutation_p.K276R|MIB2_ENST00000355826.5_Missense_Mutation_p.K363R|MIB2_ENST00000378708.1_Missense_Mutation_p.K262R|MIB2_ENST00000518681.1_Missense_Mutation_p.K312R|MIB2_ENST00000378712.1_Missense_Mutation_p.K197R|MIB2_ENST00000505820.2_Missense_Mutation_p.K377R|MIB2_ENST00000520777.1_Missense_Mutation_p.K377R|MIB2_ENST00000360522.4_Missense_Mutation_p.K320R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	320					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CACGGGGACAAGGTCAAGTGT	0.697													G	1560729	A	G	1560729	3	3	339	1	0	0	0	0	1	0	0	0	9642	72	3	3	1156	3	MIB2	1	1560729	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08		1560729	247689892	1	22237											
GBP5	115362	broad.mit.edu	37	chr1	89728016	89728016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctcctgcatcatttgctCgttctgcctttgaatcgccg	4	15	7	15	3	3	1	1	1	2	0	6	1	3	1	4	0	3	3	4	0	1	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:89728016C>T	ENST00000343435.5	-	11	2070	c.1534G>A	c.(1534-1536)Gag>Aag	p.E512K	GBP5_ENST00000370459.3_Missense_Mutation_p.E512K|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	512						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		ATCATTTGCTCGTTCTGCCTT	0.463													T	89728016	C	T	89728016	3	4	339	1	0	0	0	0	1	0	0	0	6331	893	31	1	234	1	GBP5	1	89728016	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	88167287	89728016	159522605	2	22238											
FLG	2312	broad.mit.edu	37	chr1	152282227	152282227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggctaccactggaccctCggtttccactgtctccgact	5	11	8	17	2	1	0	0	0	1	0	4	2	2	1	5	3	1	2	5	3	1	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:152282227C>T	ENST00000368799.1	-	3	5170	c.5135G>A	c.(5134-5136)cGa>cAa	p.R1712Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1712	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1712P(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACTGGACCCTCGGTTTCCACT	0.592									Ichthyosis				T	152282227	C	T	152282227	3	4	339	1	0	0	0	0	1	0	0	0	5971	884	31	1	7054	1	FLG	1	152282227	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	62554211	152282227	96968394	3	22239											
PCNXL2	80003	broad.mit.edu	37	chr1	233344354	233344354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagggtgcctggctttggCccctgtatcaagaagcaaaa	10	8	14	9	0	1	1	1	0	0	1	1	2	1	2	3	4	2	3	3	4	5	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr1:233344354C>T	ENST00000258229.9	-	13	3007	c.2773G>A	c.(2773-2775)Gcc>Acc	p.A925T	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A58T|PCNXL2_ENST00000430153.1_Missense_Mutation_p.A224T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTGGCTTTGGCCCCTGTATCA	0.423													T	233344354	C	T	233344354	3	4	339	1	0	0	0	0	1	0	0	0	11668	739	26	2	3728	2	PCNXL2	1	233344354	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	81062127	233344354	15906267	4	22240											
C2orf71	388939	broad.mit.edu	37	chr2	29294007	29294007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgccgctttgtggtgggtgGgcttagcaccctggggctca	3	11	16	11	2	1	0	1	0	0	0	2	0	1	0	2	5	1	4	2	5	1	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:29294007G>A	ENST00000331664.5	-	1	3120	c.3121C>T	c.(3121-3123)Cca>Tca	p.P1041S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1041	Pro-rich.				response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GTGGTGGGTGGGCTTAGCACC	0.687													A	29294007	G	A	29294007	3	1	339	1	0	0	0	0	1	0	0	0	2212	1232	43	2	753	2	C2orf71	2	29294007	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		29294007	213905366	5	22241											
RIF1	55183	broad.mit.edu	37	chr2	152293371	152293371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgtacggagccccgggaaCtccccgaatgaacctgagtt	9	6	11	15	4	0	2	0	2	0	0	1	5	1	4	6	2	4	2	6	2	4	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:152293371C>A	ENST00000243326.5	+	11	1709	c.1226C>A	c.(1225-1227)aCt>aAt	p.T409N	RIF1_ENST00000433166.2_Missense_Mutation_p.L339I|RIF1_ENST00000444746.2_Missense_Mutation_p.T409N|RIF1_ENST00000453091.2_Missense_Mutation_p.T409N|RIF1_ENST00000430328.2_Missense_Mutation_p.T409N|RIF1_ENST00000428287.2_Missense_Mutation_p.T409N			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GCCCCGGGAACTCCCCGAATG	0.418													A	152293371	C	A	152293371	3	1	339	1	0	0	0	0	1	0	0	0	13448	565	20	4	1268	4	RIF1	2	152293371	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	122999364	152293371	90906002	6	22242											
CHRNA1	1134	broad.mit.edu	37	chr2	175614763	175614763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgatggaggcaatgaCgaacaccatggtgaacagca	15	6	13	7	1	0	4	0	4	0	0	0	7	0	5	1	3	3	2	1	3	3	0	rs137852804		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr2:175614763C>T	ENST00000348749.5	-	7	990	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CHRNA1_ENST00000261007.5_Missense_Mutation_p.V330I|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409219.1_Missense_Mutation_p.V305I|CHRNA1_ENST00000409542.1_Missense_Mutation_p.V223I	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	330					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						GAGGCAATGACGAACACCATG	0.537													T	175614763	C	T	175614763	3	4	339	1	0	0	0	0	1	0	0	0	3411	536	19	1	472	1	CHRNA1	2	175614763	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	23321392	175614763	67584610	7	22243											
PLXNB1	5364	broad.mit.edu	37	chr3	48461210	48461210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacggagcccatggcccctgGgaaagtggtggcaggaacag	10	4	16	11	1	0	0	0	0	0	0	0	3	0	3	3	6	2	1	3	6	2	0			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:48461210G>C	ENST00000358536.4	-	11	2754	c.2485C>G	c.(2485-2487)Cca>Gca	p.P829A	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Intron|PLXNB1_ENST00000456774.1_Intron|PLXNB1_ENST00000296440.6_Missense_Mutation_p.P829A	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	829	Pro-rich.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		ATGGCCCCTGGGAAAGTGGTG	0.701													C	48461210	G	C	48461210	3	2	339	1	0	0	0	0	1	0	0	0	12200	1232	43	4	4034	4	PLXNB1	3	48461210	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		48461210	149561220	8	22244											
SLC9A9	285195	broad.mit.edu	37	chr3	143100927	143100932	+	In_Frame_Del	DEL	TTCAGA	TTCAGA	-																															gttgtgaggaggggtcctccTtcagattttcatccaggtcc																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr3:143100927_143100932delTTCAGA	ENST00000316549.6	-	13	1702_1707	c.1494_1499delTCTGAA	c.(1492-1500)aatctgaag>aag	p.NL498del	SLC9A9-AS2_ENST00000490153.1_RNA	NM_173653.3	NP_775924.1	Q8IVB4	SL9A9_HUMAN	solute carrier family 9, subfamily A (NHE9, cation proton antiporter 9), member 9	498					regulation of pH	integral to membrane|late endosome membrane|recycling endosome	sodium:hydrogen antiporter activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(13)|lung(29)|ovary(2)|skin(3)|stomach(1)	57						GGGGTCCTCCTTCAGATTTTCATCCA	0.442													-	143100932	TTCAGA	-	143100927	7	5	339	1	0	1	0	1	0	0	0	0	14815	1609	56	0	454	0	SLC9A9	3	143100927	In_Frame_Del	DEL	TTCAGA	TCGA-DH-5141-01A-01D-1468-08	94639717	143100927	54921503	9	22245											
NIPBL	25836	broad.mit.edu	37	chr5	37008732	37008732	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattactaaacaggtattctCaagatatgaaaaacataggc	19	10	6	6	0	1	2	1	1	1	1	2	2	1	2	0	2	3	1	0	2	10	6			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:37008732C>G	ENST00000282516.8	+	20	4827	c.4328C>G	c.(4327-4329)tCa>tGa	p.S1443*	NIPBL_ENST00000448238.2_Nonsense_Mutation_p.S1443*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1443					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGGTATTCTCAAGATATGAA	0.274													G	37008732	C	G	37008732	4	3	339	1	0	0	0	0	0	1	0	0	10504	838	29	4	4402	4	NIPBL	5	37008732	Nonsense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		37008732	143906528	10	22246											
C5orf34	375444	broad.mit.edu	37	chr5	43506030	43506030	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagacaaaggatatttcCattcctctggacaggcagcc	13	9	8	11	0	1	1	0	0	1	1	3	3	3	3	3	3	1	1	3	3	4	4			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:43506030C>T	ENST00000306862.2	-	4	1127	c.752G>A	c.(751-753)tGg>tAg	p.W251*	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	251										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					AGGATATTTCCATTCCTCTGG	0.408													T	43506030	C	T	43506030	4	4	339	1	0	0	0	0	0	1	0	0	2315	595	21	2	1204	2	C5orf34	5	43506030	Nonsense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08	6497298	43506030	137409230	11	22247											
SHROOM1	134549	broad.mit.edu	37	chr5	132158586	132158586	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggccaaggtcgtcccTgatggcgtccagttggtcct	6	11	13	11	2	0	2	0	2	0	0	4	2	3	2	4	4	0	1	4	4	1	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:132158586T>C	ENST00000378679.3	-	10	3265	c.2461A>G	c.(2461-2463)Agg>Ggg	p.R821G	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R752G|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R816G	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	821	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGGTCGTCCCTGATGGCGTCC	0.672													C	132158586	T	C	132158586	3	2	339	1	0	0	0	0	1	0	0	0	14387	1579	55	3	101	3	SHROOM1	5	132158586	Missense_Mutation	SNP	T	TCGA-DH-5141-01A-01D-1468-08	88652556	132158586	48756674	12	22248											
ADRB2	154	broad.mit.edu	37	chr5	148206922	148206922	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcactggtaccgggcCacccaccaggaagccatcaa	12	4	10	15	1	1	1	1	0	0	1	1	2	1	2	5	3	3	2	5	3	3	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr5:148206922C>T	ENST00000305988.4	+	1	767	c.528C>T	c.(526-528)gcC>gcT	p.A176A		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	176					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	GGTACCGGGCCACCCACCAGG	0.537													T	148206922	C	T	148206922	2	4	339	1	0	0	0	0	0	0	0	1	341	581	21	2		2	ADRB2	5	148206922	Silent	SNP	C	TCGA-DH-5141-01A-01D-1468-08	16048336	148206922	32708338	13	22249											
GRM1	2911	broad.mit.edu	37	chr6	146720659	146720659	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgtaacagtggctctgggGtgcatgttcactcccaagat	9	11	12	9	0	2	1	1	0	1	1	3	1	3	1	1	3	2	4	1	3	2	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr6:146720659G>C	ENST00000392299.2	+	8	2954	c.2484G>C	c.(2482-2484)ggG>ggC	p.G828G	GRM1_ENST00000507907.1_Silent_p.G828G|GRM1_ENST00000355289.4_Silent_p.G828G|GRM1_ENST00000282753.1_Silent_p.G828G|GRM1_ENST00000492807.2_Silent_p.G828G|GRM1_ENST00000361719.2_Silent_p.G828G			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	828					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TGGCTCTGGGGTGCATGTTCA	0.488													C	146720659	G	C	146720659	2	2	339	1	0	0	0	0	0	0	0	1	6851	1248	44	4		4	GRM1	6	146720659	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08		146720659	24394408	14	22250											
OSBPL3	26031	broad.mit.edu	37	chr7	24903215	24903215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggcatgacagtgcgccAggtctgtgggggaaaagagg	10	6	19	6	1	1	2	0	1	1	1	1	3	1	3	1	6	1	2	1	6	3	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr7:24903215A>G	ENST00000313367.2	-	8	1128	c.677T>C	c.(676-678)cTg>cCg	p.L226P	OSBPL3_ENST00000431825.2_Missense_Mutation_p.L226P|OSBPL3_ENST00000353930.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396431.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000352860.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000396429.1_Missense_Mutation_p.L226P|OSBPL3_ENST00000409069.1_Missense_Mutation_p.L226P	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	226					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACAGTGCGCCAGGTCTGTGGG	0.532													G	24903215	A	G	24903215	3	3	339	1	0	0	0	0	1	0	0	0	11355	188	7	3	2050	3	OSBPL3	7	24903215	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08		24903215	134235448	15	22251											
RALYL	138046	broad.mit.edu	37	chr8	85774590	85774590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtaattccgctgaagcGtcccagagtggcagtcacaa	11	8	11	11	2	1	2	1	1	0	1	3	2	3	2	2	1	2	4	2	1	3	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:85774590G>A	ENST00000521268.1	+	6	1578	c.473G>A	c.(472-474)cGt>cAt	p.R158H	RALYL_ENST00000521376.1_Missense_Mutation_p.R69H|RALYL_ENST00000518566.1_Missense_Mutation_p.R147H|RALYL_ENST00000517638.1_Missense_Mutation_p.R171H|RALYL_ENST00000521695.1_Missense_Mutation_p.R158H|RALYL_ENST00000522455.1_Missense_Mutation_p.R158H|RALYL_ENST00000523850.1_Missense_Mutation_p.R85H	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	158							identical protein binding|nucleotide binding|RNA binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						CCGCTGAAGCGTCCCAGAGTG	0.507													A	85774590	G	A	85774590	3	1	339	1	0	0	0	0	1	0	0	0	13108	1145	40	1	534	1	RALYL	8	85774590	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		85774590	60589432	16	22252											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-																															cctgtgaaacccaccacgccTttttcccatattacggacat																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													-	105440214	T	-	105440214	7	5	339	1	0	1	0	1	0	0	0	0	4785	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-DH-5141-01A-01D-1468-08	19665624	105440214	40923808	17	22253											
NFIB	4781	broad.mit.edu	37	chr9	14307185	14307185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagactttgtctgcctgtCgcaggcagtcgattctccta	6	12	10	13	2	2	1	0	0	2	1	5	2	2	1	3	1	1	2	3	1	1	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:14307185C>A	ENST00000380959.3	-	2	838	c.365G>T	c.(364-366)cGa>cTa	p.R122L	NFIB_ENST00000397575.3_Missense_Mutation_p.R122L|NFIB_ENST00000380934.4_Missense_Mutation_p.R148L|NFIB_ENST00000380921.3_Missense_Mutation_p.R122L|NFIB_ENST00000380953.1_Missense_Mutation_p.R122L|NFIB_ENST00000397579.2_Missense_Mutation_p.R122L|NFIB_ENST00000397581.2_Missense_Mutation_p.R122L	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	122					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		GTCTGCCTGTCGCAGGCAGTC	0.532			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								A	14307185	C	A	14307185	3	1	339	1	0	0	0	0	1	0	0	0	10447	884	31	4	929	4	NFIB	9	14307185	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		14307185	126906246	18	22254											
KLF4	9314	broad.mit.edu	37	chr9	110249405	110249405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtggcggtccttttccGgggccacgatcgtcttcccc	2	11	14	14	4	1	0	0	0	1	0	5	1	4	0	5	5	0	0	5	5	0	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr9:110249405G>A	ENST00000374672.4	-	4	1641	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	424	Pro-rich.				fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						GTCCTTTTCCGGGGCCACGAT	0.587													A	110249405	G	A	110249405	3	1	339	1	0	0	0	0	1	0	0	0	8406	1115	39	1	279	1	KLF4	9	110249405	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	95942220	110249405	30964026	19	22255											
NLRP14	338323	broad.mit.edu	37	chr11	7064302	7064302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttgaagataagaggtggGccatgaaagtattcagttca	13	13	11	4	0	2	4	2	2	0	2	2	4	2	4	1	2	0	2	1	2	4	6			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:7064302G>A	ENST00000299481.4	+	4	1391	c.1045G>A	c.(1045-1047)Gcc>Acc	p.A349T		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	349	NACHT.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		TAAGAGGTGGGCCATGAAAGT	0.428													A	7064302	G	A	7064302	3	1	339	1	0	0	0	0	1	0	0	0	10552	1203	42	2	1055	2	NLRP14	11	7064302	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08		7064302	127942214	20	22256											
CREB3L1	90993	broad.mit.edu	37	chr11	46332655	46332655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacggctcccagagtccccGctctctgcccccctccagcc	4	6	8	23	3	1	1	0	0	1	1	5	2	4	1	8	1	2	2	8	1	0	0			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:46332655G>A	ENST00000529193.1	+	5	1119	c.668G>A	c.(667-669)cGc>cAc	p.R223H	CREB3L1_ENST00000288400.3_Missense_Mutation_p.R223H			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	223					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		CAGAGTCCCCGCTCTCTGCCC	0.687			T	FUS	myxofibrosarcoma								A	46332655	G	A	46332655	3	1	339	1	0	0	0	0	1	0	0	0	3887	1087	38	1	686	1	CREB3L1	11	46332655	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	39268353	46332655	88673861	21	22257											
AHNAK	79026	broad.mit.edu	37	chr11	62289982	62289982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatctggaacatcaacGtccaccttgggtcctgagac	10	10	8	13	1	3	1	2	1	1	1	5	3	5	2	3	2	2	0	3	2	2	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:62289982G>A	ENST00000378024.4	-	5	12181	c.11907C>T	c.(11905-11907)gaC>gaT	p.D3969D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3969					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GAACATCAACGTCCACCTTGG	0.498													A	62289982	G	A	62289982	2	1	339	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62289982	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08	15957327	62289982	72716534	22	22258											
CATSPER1	117144	broad.mit.edu	37	chr11	65790440	65790440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttccggatcatttcccGgaagccctgaatgaggaagg	10	8	13	10	2	1	2	1	2	0	0	3	5	3	5	3	5	1	1	3	5	3	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:65790440G>A	ENST00000312106.5	-	2	1446	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	437					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						ATCATTTCCCGGAAGCCCTGA	0.557											OREG0021092	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	65790440	G	A	65790440	3	1	339	1	0	0	0	0	1	0	0	0	2713	1115	39	1	1077	1	CATSPER1	11	65790440	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	3500458	65790440	69216076	23	22259											
MYO7A	4647	broad.mit.edu	37	chr11	76922334	76922334	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgctgcgggagctGgtgccccaggaccttatccg	6	7	13	15	2	0	0	0	0	0	0	1	2	1	2	5	3	5	3	5	3	2	1			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr11:76922334G>A	ENST00000409709.3	+	45	6461	c.6189G>A	c.(6187-6189)ctG>ctA	p.L2063L	MYO7A_ENST00000605744.1_3'UTR|MYO7A_ENST00000458637.2_Silent_p.L2025L|MYO7A_ENST00000409619.2_Silent_p.L2014L	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	2063	FERM 2.				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						TGCGGGAGCTGGTGCCCCAGG	0.652													A	76922334	G	A	76922334	2	1	339	1	0	0	0	0	0	0	0	1	10158	1335	47	2		2	MYO7A	11	76922334	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08	11131894	76922334	58084182	24	22260											
LGR5	8549	broad.mit.edu	37	chr12	71978453	71978453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagttccgtgccatcacCagcttatccagtgactgaga	9	10	8	14	1	1	2	1	2	0	1	4	3	4	2	5	0	2	2	5	0	1	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr12:71978453C>T	ENST00000266674.5	+	18	2974	c.2663C>T	c.(2662-2664)cCa>cTa	p.P888L	LGR5_ENST00000540815.2_Missense_Mutation_p.P864L|LGR5_ENST00000536515.1_Missense_Mutation_p.P816L			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	888						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTGCCATCACCAGCTTATCCA	0.458													T	71978453	C	T	71978453	3	4	339	1	0	0	0	0	1	0	0	0	8817	594	21	2	2733	2	LGR5	12	71978453	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		71978453	61873442	25	22261											
NRL	4901	broad.mit.edu	37	chr14	24551825	24551826	+	Frame_Shift_Ins	INS	-	-	G																															agcccccagctgctgctgcaINSgggtagccagccagtacagc																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr14:24551825_24551826insG	ENST00000561028.1	-	2	551_552	c.232_233insC	c.(232-234)ctgfs	p.L78fs	NRL_ENST00000396997.1_Frame_Shift_Ins_p.L78fs|NRL_ENST00000397002.2_Frame_Shift_Ins_p.L78fs			P54845	NRL_HUMAN	neural retina leucine zipper	78					response to stimulus|transcription from RNA polymerase II promoter|visual perception	nucleus	leucine zipper domain binding|sequence-specific DNA binding			lung(2)	2				GBM - Glioblastoma multiforme(265;0.0181)		CTGCTGCTGCAGGGTAGCCAGC	0.663													G	24551826	-	G	24551825	7	5	339	1	0	1	1	0	0	0	0	0	10732	188	7	0	488	0	NRL	14	24551825	Frame_Shift_Ins	INS	-	TCGA-DH-5141-01A-01D-1468-08		24551825	82797715	26	22262											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	339	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		90631838	11899554	27	22263											
CHMP1A	5119	broad.mit.edu	37	chr16	89715806	89715806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggaggccactgcgtctaCgcgggacgccatccgaagcc	7	6	13	15	5	1	0	0	0	1	0	2	3	2	2	4	3	3	0	4	3	2	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr16:89715806C>T	ENST00000397901.3	-	4	461	c.205G>A	c.(205-207)Gta>Ata	p.V69I	CHMP1A_ENST00000253475.5_Missense_Mutation_p.R62H|CHMP1A_ENST00000550102.1_Missense_Mutation_p.V69I|CHMP1A_ENST00000535997.2_Missense_Mutation_p.V5I|CHMP1A_ENST00000547614.1_5'UTR	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	69					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		ACTGCGTCTACGCGGGACGCC	0.597													T	89715806	C	T	89715806	3	4	339	1	0	0	0	0	1	0	0	0	3382	536	19	1	553	1	CHMP1A	16	89715806	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		89715806	638947	28	22264											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29855551	29855551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagaaggagcgggaggCgacgcaggaggtaggtccca	10	4	18	9	3	0	1	0	0	0	1	2	5	2	4	2	6	1	3	2	6	2	2			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:29855551C>T	ENST00000325874.8	+	12	1713	c.1484C>T	c.(1483-1485)gCg>gTg	p.A495V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A393V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	495	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				GAGCGGGAGGCGACGCAGGAG	0.612													T	29855551	C	T	29855551	3	4	339	1	0	0	0	0	1	0	0	0	12984	768	27	1	1530	1	RAB11FIP4	17	29855551	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		29855551	51339659	29	22265											
KRT36	8689	broad.mit.edu	37	chr17	39642800	39642800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataacaggcttgcatgccGtggcacaaggttggggagga	11	8	15	7	1	0	0	0	0	0	0	0	2	0	2	1	6	3	4	1	6	3	4			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr17:39642800G>A	ENST00000393986.2	-	8	1294	c.1082C>T	c.(1081-1083)aCg>aTg	p.T361M	KRT36_ENST00000328119.6_Missense_Mutation_p.T411M			O76013	KRT36_HUMAN	keratin 36	411	Coil 2.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CTTGCATGCCGTGGCACAAGG	0.577													A	39642800	G	A	39642800	3	1	339	1	0	0	0	0	1	0	0	0	8531	1145	40	1	175	1	KRT36	17	39642800	Missense_Mutation	SNP	G	TCGA-DH-5141-01A-01D-1468-08	9787249	39642800	41552410	30	22266											
CDH20	28316	broad.mit.edu	37	chr18	59174700	59174700	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaaggcatcaatgcagaGatgaaatatactattgtgga	16	10	11	4	0	1	3	1	2	0	1	1	6	1	4	0	2	2	2	0	2	6	4			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:59174700G>A	ENST00000262717.4	+	6	1322	c.924G>A	c.(922-924)gaG>gaA	p.E308E	CDH20_ENST00000536675.2_Silent_p.E308E|CDH20_ENST00000538374.1_Silent_p.E308E			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	308	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				TCAATGCAGAGATGAAATATA	0.433													A	59174700	G	A	59174700	2	1	339	1	0	0	0	0	0	0	0	1	3136	933	33	2		2	CDH20	18	59174700	Silent	SNP	G	TCGA-DH-5141-01A-01D-1468-08		59174700	18902548	31	22267											
SERPINB3	6317	broad.mit.edu	37	chr18	61323264	61323264	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaaacttgtccattccAtcaatttctcagcagtgagt	10	14	6	11	0	3	1	2	1	2	0	6	1	5	1	2	0	3	2	2	0	2	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr18:61323264A>C	ENST00000283752.5	-	8	943	c.800T>G	c.(799-801)aTg>aGg	p.M267R	SERPINB3_ENST00000332821.8_Missense_Mutation_p.M215R|SERPINB11_ENST00000489748.1_RNA	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	267					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						TGTCCATTCCATCAATTTCTC	0.378													C	61323264	A	C	61323264	3	2	339	1	0	0	0	0	1	0	0	0	14195	217	8	5	376	5	SERPINB3	18	61323264	Missense_Mutation	SNP	A	TCGA-DH-5141-01A-01D-1468-08	2148564	61323264	16753984	32	22268											
DMRTC2	63946	broad.mit.edu	37	chr19	42353197	42353197	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattcttttattcttattaGgctttgaccctggcacctcc	6	17	6	12	0	2	1	0	1	2	0	3	1	3	1	3	2	0	3	3	2	3	7			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42353197G>A	ENST00000269945.3	+	6	679		c.e6-1		DMRTC2_ENST00000596827.1_Splice_Site	NM_001040283.1	NP_001035373.1	Q8IXT2	DMRTD_HUMAN	DMRT-like family C2						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	10						ATTCTTATTAGGCTTTGACCC	0.527													A	42353197	G	A	42353197	5	1	339	1	0	0	0	0	0	0	1	0	4630	1014	35	2	646	2	DMRTC2	19	42353197	Splice_Site	SNP	G	TCGA-DH-5141-01A-01D-1468-08		42353197	16775786	33	22269											
CIC	23152	broad.mit.edu	37	chr19	42797299	42797300	+	Frame_Shift_Del	DEL	TC	TC	-																															gagagccaactgccccagagTctgagcttgaggggcagccc																										TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr19:42797299_42797300delTC	ENST00000572681.2	+	16	6450_6451	c.6382_6383delTC	c.(6382-6384)tctfs	p.S2128fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.S1221fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S1219fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1221					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCCCAGAGTCTGAGCTTGAG	0.718			"Mis, F, S"		oligodendroglioma								-	42797300	TC	-	42797299	7	5	339	1	0	1	0	1	0	0	0	0	3454	1667	58	0	3719	0	CIC	19	42797299	Frame_Shift_Del	DEL	TC	TCGA-DH-5141-01A-01D-1468-08	444102	42797299	16331684	34	22270											
PCSK2	5126	broad.mit.edu	37	chr20	17434533	17434533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggactgccctgtacgaCgagagctgctcttccacctt	7	9	11	14	2	1	1	0	0	1	1	2	4	2	2	3	2	4	4	3	2	1	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr20:17434533C>T	ENST00000262545.2	+	9	1347	c.1032C>T	c.(1030-1032)gaC>gaT	p.D344D	PCSK2_ENST00000377899.1_Silent_p.D325D|PCSK2_ENST00000536609.1_Silent_p.D309D	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	344	Catalytic.				enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity	p.D344D(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCCTGTACGACGAGAGCTGCT	0.597													T	17434533	C	T	17434533	2	4	339	1	0	0	0	0	0	0	0	1	11677	535	19	1		1	PCSK2	20	17434533	Silent	SNP	C	TCGA-DH-5141-01A-01D-1468-08		17434533	45590987	35	22271											
PI4KA	5297	broad.mit.edu	37	chr22	21115635	21115635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatcctcaaagtagcagaaCattacctggaagcgatcagg	14	9	9	9	1	2	1	2	0	0	1	3	3	3	2	2	2	4	2	2	2	6	3			TCGA-DH-5141-01A-01D-1468-08	TCGA-DH-5141-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b77c396b-3f9c-4f1a-864e-f92793906b9d	8ab5bff0-41b4-493c-9626-d706d1c6aa38	g.chr22:21115635C>T	ENST00000255882.6	-	23	2834	c.2748G>A	c.(2746-2748)atG>atA	p.M916I	PI4KA_ENST00000572273.1_Missense_Mutation_p.M858I|PI4KA_ENST00000466162.1_5'UTR	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	858					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTAGCAGAACATTACCTGGA	0.368													T	21115635	C	T	21115635	3	4	339	1	0	0	0	0	1	0	0	0	11950	478	17	2	3692	2	PI4KA	22	21115635	Missense_Mutation	SNP	C	TCGA-DH-5141-01A-01D-1468-08		21115635	30188931	36	22272											
MAST2	23139	broad.mit.edu	37	chr1	46295226	46295226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccagtcccttggacaGtctgcaccttctcttactgc	9	11	7	14	0	2	1	0	0	2	1	4	2	3	2	3	1	4	1	3	1	2	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:46295226G>T	ENST00000361297.2	+	3	724	c.441G>T	c.(439-441)caG>caT	p.Q147H	MAST2_ENST00000372009.2_Missense_Mutation_p.Q147H	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CCCTTGGACAGTCTGCACCTT	0.448													T	46295226	G	T	46295226	3	4	340	1	0	0	0	0	1	0	0	0	9400	1020	36	4	451	4	MAST2	1	46295226	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		46295226	202955395	1	22273											
C1orf168	199920	broad.mit.edu	37	chr1	57258301	57258301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactggaacagtatggtgtgCgctgcttgtggttggatgag	7	13	16	5	1	0	1	0	1	0	0	0	3	0	3	0	4	4	4	0	4	3	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:57258301C>T	ENST00000343433.6	-	2	265	c.185G>A	c.(184-186)cGc>cAc	p.R62H	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	62										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GTATGGTGTGCGCTGCTTGTG	0.473													T	57258301	C	T	57258301	3	4	340	1	0	0	0	0	1	0	0	0	2032	768	27	1	2077	1	C1orf168	1	57258301	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10963075	57258301	191992320	2	22274											
KANK4	163782	broad.mit.edu	37	chr1	62739569	62739569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctgagtgtctttggCgttctcttggtgaaactgtc	4	15	12	10	1	2	2	0	2	2	0	4	2	2	2	1	3	1	1	1	3	1	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:62739569C>T	ENST00000371153.4	-	3	1585	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	403										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGTCTTTGGCGTTCTCTTGG	0.517													T	62739569	C	T	62739569	3	4	340	1	0	0	0	0	1	0	0	0	8037	768	27	1	1812	1	KANK4	1	62739569	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	5481268	62739569	186511052	3	22275											
AMY2B	280	broad.mit.edu	37	chr1	104115689	104115689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactttgctttctaggttcGtatttatgtggatgctgtaa	9	18	9	5	1	1	0	0	0	1	0	2	1	1	1	0	2	3	5	0	2	5	8			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:104115689G>A	ENST00000361355.4	+	5	936	c.320G>A	c.(319-321)cGt>cAt	p.R107H	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	107					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		TTCTAGGTTCGTATTTATGTG	0.368													A	104115689	G	A	104115689	3	1	340	1	0	0	0	0	1	0	0	0	595	1145	40	1	330	1	AMY2B	1	104115689	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	41376120	104115689	145134932	4	22276											
MUC1	4582	broad.mit.edu	37	chr1	155160204	155160204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtagcctcaccgctgaCgtctgagatcgtcaggttat	9	10	12	10	3	3	2	2	2	1	1	4	4	3	3	2	2	1	3	2	2	3	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:155160204C>T	ENST00000368395.1	-	5	1146	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	MUC1_ENST00000462215.1_5'UTR|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368398.3_Missense_Mutation_p.V114I|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000338684.5_Missense_Mutation_p.V108I|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000457295.2_Missense_Mutation_p.V148I|MUC1_ENST00000368392.3_Missense_Mutation_p.V148I|MUC1_ENST00000368393.3_Missense_Mutation_p.V157I|MUC1_ENST00000337604.5_Missense_Mutation_p.V157I|MUC1_ENST00000438413.1_Missense_Mutation_p.V113I|MUC1_ENST00000368390.3_Missense_Mutation_p.V139I|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	1139	42 X 20 AA approximate tandem repeats of P-A-P-G-S-T-A-P-P-A-H-G-V-T-S-A-P-D-T-R.					apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCACCGCTGACGTCTGAGATC	0.577			T	IGH@	B-NHL								T	155160204	C	T	155160204	3	4	340	1	0	0	0	0	1	0	0	0	10046	536	19	1	368	1	MUC1	1	155160204	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	51044515	155160204	94090417	5	22277											
AIM2	9447	broad.mit.edu	37	chr1	159035847	159035847	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctaacacacgtgaggcGctatttacctctaagaaacc	13	9	7	12	2	2	2	0	1	2	1	2	2	2	2	2	1	3	2	2	1	5	5	rs148686373		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:159035847G>A	ENST00000368130.4	-	4	957	c.669C>T	c.(667-669)agC>agT	p.S223S		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	223	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CACGTGAGGCGCTATTTACCT	0.368													A	159035847	G	A	159035847	2	1	340	1	0	0	0	0	0	0	0	1	432	1078	38	1		1	AIM2	1	159035847	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	3875643	159035847	90214774	6	22278											
KIAA1614	57710	broad.mit.edu	37	chr1	180904728	180904728	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccccaggaccctccaGgagctccaggctgcctgtgg	5	6	12	18	1	0	0	0	0	0	0	3	2	3	2	7	4	2	2	7	4	0	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:180904728G>A	ENST00000367588.4	+	5	1738	c.1683G>A	c.(1681-1683)caG>caA	p.Q561Q	KIAA1614_ENST00000367587.1_Silent_p.Q182Q	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	561										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						GGACCCTCCAGGAGCTCCAGG	0.726													A	180904728	G	A	180904728	2	1	340	1	0	0	0	0	0	0	0	1	8306	991	35	2		2	KIAA1614	1	180904728	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	21868881	180904728	68345893	7	22279											
RNASEL	6041	broad.mit.edu	37	chr1	182554707	182554707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccaagtgactgttctctCggctgctttgcagacaagag	9	11	10	11	1	2	3	1	1	1	2	4	3	2	3	1	1	2	4	1	1	2	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:182554707C>T	ENST00000367559.3	-	2	1488	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	RNASEL_ENST00000539397.1_Missense_Mutation_p.R412Q|RNASEL_ENST00000444138.1_Missense_Mutation_p.R412Q	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	412	Protein kinase.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ACTGTTCTCTCGGCTGCTTTG	0.532													T	182554707	C	T	182554707	3	4	340	1	0	0	0	0	1	0	0	0	13507	884	31	1	1014	1	RNASEL	1	182554707	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	1649979	182554707	66695914	8	22280											
FMOD	2331	broad.mit.edu	37	chr1	203316988	203316988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggtgatctggttgccGtggagagcaatccagagcag	9	9	14	9	1	2	3	1	1	1	2	3	4	3	3	2	3	3	3	2	3	1	1	rs141206727		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:203316988G>A	ENST00000354955.4	-	2	874	c.411C>T	c.(409-411)caC>caT	p.H137H	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	137					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTGGTTGCCGTGGAGAGCAA	0.557													A	203316988	G	A	203316988	2	1	340	1	0	0	0	0	0	0	0	1	6008	1136	40	1		1	FMOD	1	203316988	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	20762281	203316988	45933633	9	22281											
EPRS	2058	broad.mit.edu	37	chr1	220195728	220195728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggatgtggttgaattttgCagcgataaagggttggatct	9	15	14	3	1	1	1	0	1	1	0	1	4	1	3	0	4	2	3	0	4	3	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:220195728C>T	ENST00000366923.3	-	9	1345	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	359	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TTGAATTTTGCAGCGATAAAG	0.378													T	220195728	C	T	220195728	3	4	340	1	0	0	0	0	1	0	0	0	5232	710	25	2	3558	2	EPRS	1	220195728	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	16878740	220195728	29054893	10	22282											
HEATR1	55127	broad.mit.edu	37	chr1	236724539	236724539	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatacctctcttcaaggccTtttaaaatctcaggaccacc	12	11	4	14	0	3	0	2	0	2	0	5	1	3	1	4	2	1	0	4	2	4	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr1:236724539T>C	ENST00000366582.3	-	33	4746	c.4632A>G	c.(4630-4632)aaA>aaG	p.K1544K	HEATR1_ENST00000366581.2_Silent_p.K1463K	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1544					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTTCAAGGCCTTTTAAAATCT	0.323													C	236724539	T	C	236724539	2	2	340	1	0	0	0	0	0	0	0	1	7082	1606	56	3		3	HEATR1	1	236724539	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	16528811	236724539	12526082	11	22283											
NTSR2	23620	broad.mit.edu	37	chr2	11798782	11798782	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagagaagaggagtcacAgctgagctgacgtagaaaag	15	7	14	5	1	1	5	1	2	0	3	1	7	1	6	0	1	2	4	0	1	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:11798782A>T	ENST00000306928.5	-	4	1090	c.1056T>A	c.(1054-1056)gcT>gcA	p.A352A		NM_012344.3	NP_036476	O95665	NTR2_HUMAN	neurotensin receptor 2	352					sensory perception	integral to plasma membrane				breast(1)|large_intestine(7)|lung(7)|prostate(1)|urinary_tract(1)	17	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.129)|OV - Ovarian serous cystadenocarcinoma(76;0.24)	Levocabastine(DB01106)	GAGGAGTCACAGCTGAGCTGA	0.532													T	11798782	A	T	11798782	2	4	340	1	0	0	0	0	0	0	0	1	10787	175	7	5		5	NTSR2	2	11798782	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08		11798782	231400591	12	22284											
SNX17	9784	broad.mit.edu	37	chr2	27599364	27599364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtcacctgatgccaccCgggagtctatggtcaaactc	10	8	11	12	1	3	1	2	1	1	0	4	3	3	3	3	3	2	0	3	3	2	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:27599364C>T	ENST00000233575.2	+	14	1498	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	SNX17_ENST00000543024.1_Missense_Mutation_p.R212W|SNX17_ENST00000537606.1_Missense_Mutation_p.R401W|SNX17_ENST00000542478.1_Missense_Mutation_p.R212W	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	426					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCCACCCGGGAGTCTAT	0.572													T	27599364	C	T	27599364	3	4	340	1	0	0	0	0	1	0	0	0	14982	643	23	1	1330	1	SNX17	2	27599364	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	15800582	27599364	215600009	13	22285											
MGAT4A	11320	broad.mit.edu	37	chr2	99279632	99279632	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactgtgggaatgcccatGactattgaaactggaaaaaa	15	10	9	7	0	1	2	1	2	0	0	1	4	1	4	1	2	2	0	1	2	6	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:99279632G>A	ENST00000264968.3	-	4	777	c.414C>T	c.(412-414)gtC>gtT	p.V138V	MGAT4A_ENST00000393487.1_Silent_p.V138V|MGAT4A_ENST00000409391.1_Silent_p.V138V|MGAT4A_ENST00000414521.2_Silent_p.V10V|MGAT4A_ENST00000461884.1_5'UTR			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						GAATGCCCATGACTATTGAAA	0.323													A	99279632	G	A	99279632	2	1	340	1	0	0	0	0	0	0	0	1	9620	1277	45	2		2	MGAT4A	2	99279632	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	71680268	99279632	143919741	14	22286											
PTPN18	26469	broad.mit.edu	37	chr2	131116491	131116491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacggcgtgtgctccaccGtggccggcagtcggccagag	5	6	16	14	5	0	2	0	1	0	1	2	2	1	2	4	4	1	2	4	4	0	0	rs11892325	byFrequency	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:131116491G>A	ENST00000175756.5	+	2	246	c.145G>A	c.(145-147)Gtg>Atg	p.V49M	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	49	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					GTGCTCCACCGTGGCCGGCAG	0.627													A	131116491	G	A	131116491	3	1	340	1	0	0	0	0	1	0	0	0	12870	1145	40	1	151	1	PTPN18	2	131116491	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	31836859	131116491	112082882	15	22287											
LRP1B	53353	broad.mit.edu	37	chr2	141528521	141528521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtccttgtagtttcagatGttggtaaacaaagttgagag	13	13	11	4	0	1	2	1	1	0	2	2	3	2	2	1	1	1	5	1	1	5	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:141528521G>T	ENST00000389484.3	-	34	6526	c.5555C>A	c.(5554-5556)aCa>aAa	p.T1852K		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1852	EGF-like 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGTTTCAGATGTTGGTAAACA	0.353										TSP Lung(27;0.18)			T	141528521	G	T	141528521	3	4	340	1	0	0	0	0	1	0	0	0	9025	1377	48	4	8476	4	LRP1B	2	141528521	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	10412030	141528521	101670852	16	22288											
NEB	4703	broad.mit.edu	37	chr2	152342397	152342397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctccatccttgaaggaCacctcatctgcatcagcagc	10	9	7	15	0	4	1	2	1	2	0	6	2	5	2	3	1	3	3	3	1	1	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:152342397C>T	ENST00000427231.2	-	182	25657	c.25455G>A	c.(25453-25455)gtG>gtA	p.V8485V	NEB_ENST00000172853.10_Silent_p.V6629V|NEB_ENST00000397336.2_Silent_p.V460V|NEB_ENST00000409198.1_Silent_p.V6629V|NEB_ENST00000603639.1_Silent_p.V8485V|NEB_ENST00000604864.1_Silent_p.V8485V|NEB_ENST00000509223.2_Silent_p.V398V|NEB_ENST00000397345.3_Silent_p.V8485V	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6629					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CCTTGAAGGACACCTCATCTG	0.458													T	152342397	C	T	152342397	2	4	340	1	0	0	0	0	0	0	0	1	10378	465	17	2		2	NEB	2	152342397	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10813876	152342397	90856976	17	22289											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	340	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	56770715	209113112	34086261	18	22290											
C2orf62	375307	broad.mit.edu	37	chr2	219232561	219232561	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggaggacgtggtcaccttCgccgccgagttcttcggccc	4	8	13	16	6	2	0	1	0	1	0	4	3	2	2	5	4	0	1	5	4	0	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr2:219232561C>T	ENST00000289388.3	+	10	1067	c.1038C>T	c.(1036-1038)ttC>ttT	p.F346F	C2orf62_ENST00000481940.1_3'UTR	NM_198559.1	NP_940961.1	Q7Z7H3	CB062_HUMAN	chromosome 2 open reading frame 62	346										endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Renal(207;0.0915)		Epithelial(149;8.08e-07)|all cancers(144;0.000146)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGGTCACCTTCGCCGCCGAGT	0.701													T	219232561	C	T	219232561	2	4	340	1	0	0	0	0	0	0	0	1	2202	883	31	1		1	C2orf62	2	219232561	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	10119449	219232561	23966812	19	22291											
CCDC158	339965	broad.mit.edu	37	chr4	77244544	77244544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtttttcctgttgtttctAttggcggagactgtgaatct	6	19	10	6	1	2	2	0	1	2	1	3	3	3	2	1	2	0	3	1	2	2	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:77244544A>G	ENST00000388914.3	-	23	3328	c.3176T>C	c.(3175-3177)aTa>aCa	p.I1059T		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	1059										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TGTTGTTTCTATTGGCGGAGA	0.353													G	77244544	A	G	77244544	3	3	340	1	0	0	0	0	1	0	0	0	2817	449	16	3	173	3	CCDC158	4	77244544	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08		77244544	113909732	20	22292											
CCNG2	901	broad.mit.edu	37	chr4	78081991	78081991	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatccggattagtcagtgtAaatgtactgcttctgacata	11	14	9	7	1	2	2	1	2	1	0	3	3	3	3	1	1	2	3	1	1	5	5			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:78081991A>T	ENST00000316355.5	+	4	750	c.394A>T	c.(394-396)Aaa>Taa	p.K132*	CCNG2_ENST00000354403.5_Nonsense_Mutation_p.K132*|CCNG2_ENST00000502280.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000509972.1_Nonsense_Mutation_p.K132*|CCNG2_ENST00000395640.1_Nonsense_Mutation_p.K132*	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	132					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TAGTCAGTGTAAATGTACTGC	0.363													T	78081991	A	T	78081991	4	4	340	1	0	0	0	0	0	1	0	0	2954	363	13	5	404	5	CCNG2	4	78081991	Nonsense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	837447	78081991	113072285	21	22293											
PDHA2	5161	broad.mit.edu	37	chr4	96761615	96761615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcgtgggccttgaggccgGcataaacccctcggatcacg	7	8	13	13	4	1	1	1	1	0	0	2	2	1	2	4	4	2	1	4	4	2	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:96761615G>A	ENST00000295266.4	+	1	377	c.314G>A	c.(313-315)gGc>gAc	p.G105D		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	105					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	CTTGAGGCCGGCATAAACCCC	0.517													A	96761615	G	A	96761615	3	1	340	1	0	0	0	0	1	0	0	0	11741	1203	42	2	316	2	PDHA2	4	96761615	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	18679624	96761615	94392661	22	22294											
TET2	54790	broad.mit.edu	37	chr4	106156834	106156834	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaccaagcggaatcccatCtaaaacgtaatgaggcatca	15	8	7	11	2	3	1	2	1	1	0	4	2	4	2	2	2	2	2	2	2	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:106156834C>G	ENST00000540549.1	+	3	2595	c.1735C>G	c.(1735-1737)Cta>Gta	p.L579V	TET2_ENST00000380013.4_Missense_Mutation_p.L579V|TET2_ENST00000305737.2_Missense_Mutation_p.L579V|TET2_ENST00000394764.1_Missense_Mutation_p.L579V|TET2_ENST00000413648.2_Missense_Mutation_p.L579V|TET2_ENST00000513237.1_Missense_Mutation_p.L600V|TET2_ENST00000545826.1_Missense_Mutation_p.L579V			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	579					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGAATCCCATCTAAAACGTAA	0.453			"Mis N, F"		MDS								G	106156834	C	G	106156834	3	3	340	1	0	0	0	0	1	0	0	0	15870	912	32	4	1737	4	TET2	4	106156834	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9395219	106156834	84997442	23	22295											
ALPK1	80216	broad.mit.edu	37	chr4	113362097	113362097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtaaccggtaatggaaaagGactcatctacctcacagatc	14	8	9	10	1	3	1	2	0	1	1	4	3	3	3	2	4	2	2	2	4	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr4:113362097G>A	ENST00000458497.1	+	15	3842	c.3563G>A	c.(3562-3564)gGa>gAa	p.G1188E	ALPK1_ENST00000504176.2_Missense_Mutation_p.G1110E|ALPK1_ENST00000177648.9_Missense_Mutation_p.G1188E	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1188	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		AATGGAAAAGGACTCATCTAC	0.363													A	113362097	G	A	113362097	3	1	340	1	0	0	0	0	1	0	0	0	544	1174	41	2	3613	2	ALPK1	4	113362097	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	7205263	113362097	77792179	24	22296											
ZDHHC11	79844	broad.mit.edu	37	chr5	850710	850710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacactggctcccggagcggGtgtccatctgcaggacacag	9	6	13	13	2	1	0	0	0	1	0	3	2	3	2	2	4	3	2	2	4	1	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:850710G>A	ENST00000283441.8	-	1	391	c.8C>T	c.(7-9)aCc>aTc	p.T3I	ZDHHC11_ENST00000424784.2_Missense_Mutation_p.T3I	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	3						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			CCCGGAGCGGGTGTCCATCTG	0.617													A	850710	G	A	850710	3	1	340	1	0	0	0	0	1	0	0	0	17702	1261	44	2	1278	2	ZDHHC11	5	850710	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		850710	180064550	25	22297											
MCCC2	64087	broad.mit.edu	37	chr5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgccaagatggtggccGctgtggcctgtgcccaagtg	6	9	16	10	1	0	1	0	0	0	1	0	1	0	1	4	4	2	1	4	4	2	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr5:70944989G>A	ENST00000340941.6	+	14	1411	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512													A	70944989	G	A	70944989	3	1	340	1	0	0	0	0	1	0	0	0	9450	1087	38	1	1336	1	MCCC2	5	70944989	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	70094279	70944989	109970271	26	22298											
RHAG	6005	broad.mit.edu	37	chr6	49604490	49604490	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatcatggcaatttcCaggactatagccatgagagg	16	8	9	8	0	1	1	1	1	0	1	2	3	2	2	2	3	2	1	2	3	6	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:49604490C>A	ENST00000371175.4	-	1	62	c.36G>T	c.(34-36)ctG>ctT	p.L12L	RHAG_ENST00000229810.7_Silent_p.L12L	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	12					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TGGCAATTTCCAGGACTATAG	0.443													A	49604490	C	A	49604490	2	1	340	1	0	0	0	0	0	0	0	1	13404	581	21	4		4	RHAG	6	49604490	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08		49604490	121510577	27	22299											
REV3L	5980	broad.mit.edu	37	chr6	111726682	111726682	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaaccttacttttccttcTtgcttttcggaacttgacag	8	18	5	10	1	1	1	0	1	1	0	3	2	2	2	2	1	4	1	2	1	3	9			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:111726682T>G	ENST00000435970.1	-	6	1138	c.322A>C	c.(322-324)Aga>Cga	p.R108R	REV3L_ENST00000368805.1_Silent_p.R186R|REV3L_ENST00000358835.3_Silent_p.R186R|REV3L_ENST00000368802.3_Silent_p.R186R			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	186					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTTTCCTTCTTGCTTTTCGG	0.299								DNA polymerases (catalytic subunits)					G	111726682	T	G	111726682	2	3	340	1	0	0	0	0	0	0	0	1	13328	1617	56	5		5	REV3L	6	111726682	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	62122192	111726682	59388385	28	22300											
BCLAF1	9774	broad.mit.edu	37	chr6	136597607	136597607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttatccctggtattaccCctatcaagcaggaatactct	10	14	5	12	0	3	0	1	0	2	0	4	1	4	1	3	2	3	2	3	2	7	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr6:136597607C>A	ENST00000531224.1	-	5	1308	c.1056G>T	c.(1054-1056)agG>agT	p.R352S	BCLAF1_ENST00000527536.1_Missense_Mutation_p.R352S|BCLAF1_ENST00000392348.2_Missense_Mutation_p.R350S|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Missense_Mutation_p.R350S|BCLAF1_ENST00000353331.4_Missense_Mutation_p.R350S	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	352					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGGTATTACCCCTATCAAGCA	0.443													A	136597607	C	A	136597607	3	1	340	1	0	0	0	0	1	0	0	0	1388	622	22	4	1742	4	BCLAF1	6	136597607	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	24870925	136597607	34517460	29	22301											
DNAH11	8701	broad.mit.edu	37	chr7	21678576	21678576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctttctctttgtgaaaaaGctctcgctgaatacctggaa	10	13	9	9	1	2	2	0	2	2	0	4	3	2	3	1	2	2	3	1	2	5	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:21678576G>T	ENST00000328843.6	+	28	4883	c.4852G>T	c.(4852-4854)Gct>Tct	p.A1618S	DNAH11_ENST00000409508.3_Missense_Mutation_p.A1613S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1618	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTGTGAAAAAGCTCTCGCTGA	0.403									Kartagener syndrome				T	21678576	G	T	21678576	3	4	340	1	0	0	0	0	1	0	0	0	4638	971	34	4	4962	4	DNAH11	7	21678576	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		21678576	137460087	30	22302											
ZNF713	349075	broad.mit.edu	37	chr7	56006946	56006946	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactgtaatctgaactcAaaccttatgcagcagagaat	17	9	7	8	0	2	2	1	1	1	1	2	4	2	2	1	0	5	3	1	0	7	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:56006946A>C	ENST00000429591.2	+	4	578	c.540A>C	c.(538-540)tcA>tcC	p.S180S	MRPS17_ENST00000426595.1_Intron	NM_182633.1	NP_872439.1	Q8N859	ZN713_HUMAN	zinc finger protein 713	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	25	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ATCTGAACTCAAACCTTATGC	0.368													C	56006946	A	C	56006946	2	2	340	1	0	0	0	0	0	0	0	1	18218	117	5	5		5	ZNF713	7	56006946	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08	34328370	56006946	103131717	31	22303											
CACNA2D1	781	broad.mit.edu	37	chr7	81624211	81624211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagatttaaccagagttctGaatgttttttctccactttc	9	18	6	8	0	2	3	0	2	2	2	4	4	2	3	2	0	1	2	2	0	2	7			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:81624211G>A	ENST00000356860.3	-	20	2045	c.1707C>T	c.(1705-1707)ttC>ttT	p.F569F	CACNA2D1_ENST00000356253.5_Silent_p.F588F	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	588						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCAGAGTTCTGAATGTTTTTT	0.299													A	81624211	G	A	81624211	2	1	340	1	0	0	0	0	0	0	0	1	2574	1281	45	2		2	CACNA2D1	7	81624211	Silent	SNP	G	TCGA-DH-5142-01A-01D-1468-08	25617265	81624211	77514452	32	22304											
COL1A2	1278	broad.mit.edu	37	chr7	94033881	94033881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagggcttaatgggacCtagaggcccacctggtgcag	9	9	13	10	0	0	1	0	0	0	1	0	2	0	2	3	4	2	2	3	4	3	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94033881C>T	ENST00000297268.6	+	7	764	c.293C>T	c.(292-294)cCt>cTt	p.P98L		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	98					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TTAATGGGACCTAGAGGCCCA	0.443										HNSCC(75;0.22)			T	94033881	C	T	94033881	3	4	340	1	0	0	0	0	1	0	0	0	3709	681	24	2	319	2	COL1A2	7	94033881	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	12409670	94033881	65104782	33	22305											
PEG10	23089	broad.mit.edu	37	chr7	94293346	94293346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatgaagcatgtctttgaaGaccctcagaggcgagaggtt	13	9	12	7	1	2	5	1	2	1	3	2	6	2	5	1	2	1	2	1	2	3	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:94293346G>A	ENST00000482108.1	+	2	957	c.478G>A	c.(478-480)Gac>Aac	p.D160N	PEG10_ENST00000488574.1_Missense_Mutation_p.D160N	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	160	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TGTCTTTGAAGACCCTCAGAG	0.557													A	94293346	G	A	94293346	3	1	340	1	0	0	0	0	1	0	0	0	11795	942	33	2	712	2	PEG10	7	94293346	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	259465	94293346	64845317	34	22306											
TRIM56	81844	broad.mit.edu	37	chr7	100732260	100732260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctccccttgcagcgtggCcgccctgcagagcgcggtgg	3	7	15	16	4	0	1	0	0	0	1	1	1	1	1	4	3	5	3	4	3	0	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr7:100732260C>T	ENST00000306085.6	+	3	1964	c.1667C>T	c.(1666-1668)gCc>gTc	p.A556V		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	556					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGCAGCGTGGCCGCCCTGCAG	0.672													T	100732260	C	T	100732260	3	4	340	1	0	0	0	0	1	0	0	0	16631	739	26	2	1669	2	TRIM56	7	100732260	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	6438914	100732260	58406403	35	22307											
TRPM6	140803	broad.mit.edu	37	chr9	77435280	77435280	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgcttggactgtttaagActaaagttgaaagtgttctg	11	14	12	4	0	1	2	0	1	1	1	1	3	1	3	0	2	1	4	0	2	4	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:77435280A>G	ENST00000451710.3	-	9	1311	c.1074T>C	c.(1072-1074)agT>agC	p.S358S	TRPM6_ENST00000376864.4_Silent_p.S358S|TRPM6_ENST00000360774.1_Silent_p.S358S|TRPM6_ENST00000376872.3_Silent_p.S358S|TRPM6_ENST00000361255.3_Silent_p.S353S|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000449912.2_Silent_p.S353S|TRPM6_ENST00000376871.3_Silent_p.S358S			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	358					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						ACTGTTTAAGACTAAAGTTGA	0.413													G	77435280	A	G	77435280	2	3	340	1	0	0	0	0	0	0	0	1	16691	272	10	3		3	TRPM6	9	77435280	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08		77435280	63778151	36	22308											
RMI1	80010	broad.mit.edu	37	chr9	86616940	86616940	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cttttaacagaaatgccgatCgaagtatagagagattttca	15	12	8	6	2	1	3	1	0	0	3	2	6	1	3	1	0	2	1	1	0	5	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:86616940C>G	ENST00000325875.3	+	3	1371	c.1039C>G	c.(1039-1041)Cga>Gga	p.R347G		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	347					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						AAATGCCGATCGAAGTATAGA	0.343													G	86616940	C	G	86616940	3	3	340	1	0	0	0	0	1	0	0	0	13486	876	31	4	1041	4	RMI1	9	86616940	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9181660	86616940	54596491	37	22309											
OR13C2	392376	broad.mit.edu	37	chr9	107367614	107367614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccgaggaacatctgcaCtgcacagccagaaagggaaa	16	3	11	11	1	1	1	0	0	1	1	1	4	1	3	2	2	5	2	2	2	4	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:107367614C>A	ENST00000542196.1	-	1	337	c.295G>T	c.(295-297)Gtg>Ttg	p.V99L		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AACATCTGCACTGCACAGCCA	0.522													A	107367614	C	A	107367614	3	1	340	1	0	0	0	0	1	0	0	0	11010	565	20	4	664	4	OR13C2	9	107367614	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	20750674	107367614	33845817	38	22310											
ZNF618	114991	broad.mit.edu	37	chr9	116811471	116811471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccgccttctccaaggccgGcatgtgccttcgctgctcag	4	10	11	16	3	2	0	1	0	1	0	5	0	3	0	5	2	2	3	5	2	1	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116811471G>A	ENST00000288466.7	+	14	1709	c.1610G>A	c.(1609-1611)gGc>gAc	p.G537D	ZNF618_ENST00000374126.5_Missense_Mutation_p.G630D|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	630					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TCCAAGGCCGGCATGTGCCTT	0.622													A	116811471	G	A	116811471	3	1	340	1	0	0	0	0	1	0	0	0	18143	1203	42	2	1664	2	ZNF618	9	116811471	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	9443857	116811471	24401960	39	22311											
COL27A1	85301	broad.mit.edu	37	chr9	116931516	116931516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccccctcagacctgggAaggcagccagggatgtcccc	7	6	12	16	0	1	1	1	0	0	1	3	3	3	3	6	3	1	1	6	3	1	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:116931516A>G	ENST00000356083.3	+	3	2072	c.1681A>G	c.(1681-1683)Aag>Gag	p.K561E		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	561	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CAGACCTGGGAAGGCAGCCAG	0.642													G	116931516	A	G	116931516	3	3	340	1	0	0	0	0	1	0	0	0	3716	247	9	3	1691	3	COL27A1	9	116931516	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	120045	116931516	24281915	40	22312											
SPTAN1	6709	broad.mit.edu	37	chr9	131337005	131337005	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattacttttggagaagatgCgagaaaaaggaatcaaactg	18	9	10	4	1	1	3	1	0	0	3	1	6	1	4	0	2	3	0	0	2	7	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:131337005C>T	ENST00000358161.5	+	4	528	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SPTAN1_ENST00000372731.4_Nonsense_Mutation_p.R139*|SPTAN1_ENST00000372739.3_Nonsense_Mutation_p.R139*			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	139					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGAGAAGATGCGAGAAAAAGG	0.468													T	131337005	C	T	131337005	4	4	340	1	0	0	0	0	0	1	0	0	15213	760	27	1	425	1	SPTAN1	9	131337005	Nonsense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	14405489	131337005	9876426	41	22313											
CACNA1B	774	broad.mit.edu	37	chr9	140850187	140850187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagggtggagaaccgcCgcgccttcctgaagctgcgc	8	5	16	12	4	0	3	0	1	0	2	1	6	1	3	4	2	3	1	4	2	2	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr9:140850187C>T	ENST00000371372.1	+	8	1253	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	CACNA1B_ENST00000277551.2_Missense_Mutation_p.R370C|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R370C|CACNA1B_ENST00000371355.4_Missense_Mutation_p.R370C|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	370					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GGAGAACCGCCGCGCCTTCCT	0.642													T	140850187	C	T	140850187	3	4	340	1	0	0	0	0	1	0	0	0	2565	652	23	1	1138	1	CACNA1B	9	140850187	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	9513182	140850187	363244	42	22314											
CUBN	8029	broad.mit.edu	37	chr10	16883005	16883005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtactgtggaaccacaaaaCgttccagccaagttcgcatt	12	9	9	11	2	0	0	0	0	0	0	2	1	1	1	3	2	4	4	3	2	5	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:16883005C>T	ENST00000377833.4	-	61	9770	c.9705G>A	c.(9703-9705)acG>acA	p.T3235T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3235	CUB 24.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AACCACAAAACGTTCCAGCCA	0.363													T	16883005	C	T	16883005	2	4	340	1	0	0	0	0	0	0	0	1	4084	523	19	1		1	CUBN	10	16883005	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08		16883005	118651742	43	22315											
MYO3A	53904	broad.mit.edu	37	chr10	26243813	26243813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaactaggatattgacgAagagattgaagcagaatata	18	10	10	3	1	0	5	0	3	0	2	0	8	0	6	0	1	2	1	0	1	8	7			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:26243813A>G	ENST00000265944.5	+	4	345	c.179A>G	c.(178-180)gAa>gGa	p.E60G	MYO3A_ENST00000543632.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376301.1_Missense_Mutation_p.E60G|MYO3A_ENST00000376302.1_Missense_Mutation_p.E60G	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	60	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GATATTGACGAAGAGATTGAA	0.318													G	26243813	A	G	26243813	3	3	340	1	0	0	0	0	1	0	0	0	10152	246	9	3	185	3	MYO3A	10	26243813	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	9360808	26243813	109290934	44	22316											
PLCE1	51196	broad.mit.edu	37	chr10	95790842	95790842	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttctgttctcataccTgtgactcagagaaaagtggt	11	12	9	9	0	3	2	2	1	2	1	4	3	3	2	1	1	2	2	1	1	3	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:95790842T>C	ENST00000371380.3	+	1	274	c.39T>C	c.(37-39)ccT>ccC	p.P13P	PLCE1_ENST00000260766.3_Silent_p.P13P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCTCATACCTGTGACTCAGA	0.418													C	95790842	T	C	95790842	2	2	340	1	0	0	0	0	0	0	0	1	12111	1567	55	3		3	PLCE1	10	95790842	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	69547029	95790842	39743905	45	22317											
PSD	5662	broad.mit.edu	37	chr10	104173754	104173754	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggttggggaggcagctcaAaggtgaagaaggggctctgg	9	6	21	5	0	2	2	1	1	1	1	2	3	2	3	0	9	1	4	0	9	3	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr10:104173754A>C	ENST00000020673.5	-	5	1851	c.1325T>G	c.(1324-1326)tTt>tGt	p.F442C	PSD_ENST00000406432.1_Missense_Mutation_p.F442C	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	442	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		AGGCAGCTCAAAGGTGAAGAA	0.652													C	104173754	A	C	104173754	3	2	340	1	0	0	0	0	1	0	0	0	12731	14	1	5	1801	5	PSD	10	104173754	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	8382912	104173754	31360993	46	22318											
SBF2	81846	broad.mit.edu	37	chr11	9864268	9864268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatattgccgcccaattgTcattttccctgcccttttgg	7	16	6	12	1	1	0	1	0	0	0	2	0	2	0	4	1	2	0	4	1	4	8			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:9864268T>C	ENST00000256190.8	-	25	3297	c.3160A>G	c.(3160-3162)Aca>Gca	p.T1054A	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1054					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CGCCCAATTGTCATTTTCCCT	0.373													C	9864268	T	C	9864268	3	2	340	1	0	0	0	0	1	0	0	0	13951	1667	58	3	2453	3	SBF2	11	9864268	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08		9864268	125142248	47	22319											
GAS2	2620	broad.mit.edu	37	chr11	22747932	22747932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatttcttatcctggtgccGagatttaggggtggatgaaa	11	13	12	5	1	1	2	0	1	1	1	2	4	2	3	2	4	1	0	2	4	4	4			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:22747932G>A	ENST00000454584.2	+	4	667	c.362G>A	c.(361-363)cGa>cAa	p.R121Q	GAS2_ENST00000278187.3_Missense_Mutation_p.R121Q|GAS2_ENST00000433790.1_Missense_Mutation_p.R121Q	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	121	CH.				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TCCTGGTGCCGAGATTTAGGG	0.398													A	22747932	G	A	22747932	3	1	340	1	0	0	0	0	1	0	0	0	6299	1058	37	1	372	1	GAS2	11	22747932	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08	12883664	22747932	112258584	48	22320											
OR1S1	219959	broad.mit.edu	37	chr11	57982589	57982589	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtttgtcgtcattgacAatttgctcttggggaccatg	6	17	11	7	1	2	1	1	1	1	0	3	2	2	2	1	2	1	2	1	2	1	5			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:57982589A>T	ENST00000309433.6	+	1	373	c.373A>T	c.(373-375)Aat>Tat	p.N125Y		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				CGTCATTGACAATTTGCTCTT	0.453													T	57982589	A	T	57982589	3	4	340	1	0	0	0	0	1	0	0	0	11048	130	5	5	375	5	OR1S1	11	57982589	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	35234657	57982589	77023927	49	22321											
OAF	220323	broad.mit.edu	37	chr11	120097624	120097624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagggggccctgctgagcCcccatctccacaacgtgtgt	6	7	12	16	1	1	1	0	1	1	0	2	1	1	1	5	2	3	1	5	2	1	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr11:120097624C>G	ENST00000328965.4	+	3	979	c.466C>G	c.(466-468)Ccc>Gcc	p.P156A	OAF_ENST00000531220.1_Missense_Mutation_p.P40A	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	156										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		CCTGCTGAGCCCCCATCTCCA	0.642													G	120097624	C	G	120097624	3	3	340	1	0	0	0	0	1	0	0	0	10874	623	22	4	476	4	OAF	11	120097624	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	62115035	120097624	14908892	50	22322											
CDKN1B	1027	broad.mit.edu	37	chr12	12871757	12871757	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaatttcccctgcgcttAgattcttctactcaaaacaa	14	13	3	11	1	3	1	1	0	2	1	4	1	4	1	2	0	3	1	2	0	8	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:12871757A>C	ENST00000228872.4	+	2	1191		c.e2-1		CDKN1B_ENST00000477087.1_Splice_Site|CDKN1B_ENST00000396340.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		CCCTGCGCTTAGATTCTTCTA	0.433													C	12871757	A	C	12871757	5	2	340	1	0	0	0	0	0	0	1	0	3189	434	15	5	480	5	CDKN1B	12	12871757	Splice_Site	SNP	A	TCGA-DH-5142-01A-01D-1468-08		12871757	120980138	51	22323											
ADAMTS20	80070	broad.mit.edu	37	chr12	43925953	43925953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcccatctgccttcattaTaggttctaagaaatattcac	12	15	4	10	0	4	1	2	0	2	1	5	1	5	1	2	1	1	1	2	1	5	8			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:43925953T>C	ENST00000389420.3	-	3	498	c.499A>G	c.(499-501)Ata>Gta	p.I167V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.I167V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	167						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCCTTCATTATAGGTTCTAAG	0.343													C	43925953	T	C	43925953	3	2	340	1	0	0	0	0	1	0	0	0	266	1406	49	3	5380	3	ADAMTS20	12	43925953	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08	31054196	43925953	89925942	52	22324											
PTPRR	5801	broad.mit.edu	37	chr12	71286466	71286466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatactacttaccaccacaAttacatttgctgctgggatt	12	13	5	11	0	0	0	0	0	0	0	0	1	0	1	2	1	6	2	2	1	5	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:71286466A>G	ENST00000283228.2	-	2	802	c.350T>C	c.(349-351)aTt>aCt	p.I117T		NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	117					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TACCACCACAATTACATTTGC	0.413													G	71286466	A	G	71286466	3	3	340	1	0	0	0	0	1	0	0	0	12898	101	4	3	1675	3	PTPRR	12	71286466	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	27360513	71286466	62565429	53	22325											
C12orf65	91574	broad.mit.edu	37	chr12	123741402	123741402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagaacagaaagctagctCggaaaatcctacaagagaaa	20	5	8	8	1	1	3	1	0	0	3	3	5	2	4	1	1	4	2	1	1	8	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr12:123741402C>T	ENST00000253233.1	+	3	969	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	RP11-282O18.3_ENST00000543217.2_RNA|C12orf65_ENST00000429587.2_Missense_Mutation_p.R109W|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_Missense_Mutation_p.R109W	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	109						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		AAAGCTAGCTCGGAAAATCCT	0.368													T	123741402	C	T	123741402	3	4	340	1	0	0	0	0	1	0	0	0	1721	875	31	1	331	1	C12orf65	12	123741402	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	52454936	123741402	10110493	54	22326											
SLC8A3	6547	broad.mit.edu	37	chr14	70633381	70633382	+	Frame_Shift_Ins	INS	-	-	C																															tcatcattcttgaattccaaINSctccccatatgtgtcttcaa																										TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr14:70633381_70633382insC	ENST00000381269.2	-	2	2511_2512	c.1758_1759insG	c.(1756-1761)gagttgfs	p.L587fs	SLC8A3_ENST00000357887.3_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000528359.1_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000534137.1_Frame_Shift_Ins_p.L587fs|SLC8A3_ENST00000356921.2_Frame_Shift_Ins_p.L587fs	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	587	Calx-beta 2.				cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		TTGAATTCCAACTCCCCATATG	0.505													C	70633382	-	C	70633381	7	5	340	1	0	1	1	0	0	0	0	0	14802	40	2	0	1163	0	SLC8A3	14	70633381	Frame_Shift_Ins	INS	-	TCGA-DH-5142-01A-01D-1468-08		70633381	36716159	55	22327											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:7578271T>C	ENST00000420246.2	-	6	710	c.578A>G	c.(577-579)cAt>cGt	p.H193R	TP53_ENST00000455263.2_Missense_Mutation_p.H193R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193R|TP53_ENST00000445888.2_Missense_Mutation_p.H193R|TP53_ENST00000269305.4_Missense_Mutation_p.H193R|TP53_ENST00000413465.2_Missense_Mutation_p.H193R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			C	7578271	T	C	7578271	3	2	340	1	0	0	0	0	1	0	0	0	16482	1464	51	3	716	3	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08		7578271	73616939	56	22328											
MYH8	4626	broad.mit.edu	37	chr17	10309482	10309482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagacccagaagtccagCtttgaagaaaacctggagaa	17	5	10	9	0	0	6	0	1	0	5	1	7	1	6	3	1	2	1	3	1	6	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:10309482C>G	ENST00000403437.2	-	21	2402	c.2308G>C	c.(2308-2310)Gct>Cct	p.A770P	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	770	Actin-binding.|Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						AGAAGTCCAGCTTTGAAGAAA	0.403									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G	10309482	C	G	10309482	3	3	340	1	0	0	0	0	1	0	0	0	10117	797	28	4	3585	4	MYH8	17	10309482	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	2731211	10309482	70885728	57	22329											
UNC45B	146862	broad.mit.edu	37	chr17	33482401	33482401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatgtctctggctgtctgCaacctgctccaagccatcat	8	11	9	13	0	3	1	1	0	2	1	5	2	4	1	3	1	4	3	3	1	2	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:33482401C>T	ENST00000268876.5	+	7	823	c.726C>T	c.(724-726)tgC>tgT	p.C242C	UNC45B_ENST00000591048.1_Silent_p.C242C|UNC45B_ENST00000378449.1_Silent_p.C242C|UNC45B_ENST00000433649.1_Silent_p.C242C|UNC45B_ENST00000394570.2_Silent_p.C242C	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	242					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGGCTGTCTGCAACCTGCTCC	0.552													T	33482401	C	T	33482401	2	4	340	1	0	0	0	0	0	0	0	1	17091	718	25	2		2	UNC45B	17	33482401	Silent	SNP	C	TCGA-DH-5142-01A-01D-1468-08	23172919	33482401	47712809	58	22330											
GAS2L2	246176	broad.mit.edu	37	chr17	34072135	34072135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccagtggcctggggattCgtgaaggctgcttctcaggc	6	9	16	10	1	1	1	1	1	1	0	3	2	1	2	2	6	1	2	2	6	1	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr17:34072135C>T	ENST00000254466.6	-	6	2408	c.2381G>A	c.(2380-2382)cGa>cAa	p.R794Q	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R778Q	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	794					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CCTGGGGATTCGTGAAGGCTG	0.632													T	34072135	C	T	34072135	3	4	340	1	0	0	0	0	1	0	0	0	6301	884	31	1	265	1	GAS2L2	17	34072135	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	589734	34072135	47123075	59	22331											
CPAMD8	27151	broad.mit.edu	37	chr19	17039029	17039029	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagactcattggatggctCtggaccatggccaacctgga	10	8	12	11	0	2	1	1	0	1	1	2	5	2	4	3	5	1	1	3	5	1	1			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:17039029C>A	ENST00000443236.1	-	25	3332	c.3301G>T	c.(3301-3303)Gag>Tag	p.E1101*		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1054						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTGGATGGCTCTGGACCATGG	0.582													A	17039029	C	A	17039029	4	1	340	1	0	0	0	0	0	1	0	0	3826	922	32	4	2569	4	CPAMD8	19	17039029	Nonsense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08		17039029	42089954	60	22332											
ZNF99	7652	broad.mit.edu	37	chr19	22941101	22941101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccacattcttcacatttgTagggtttctttccagtatga	8	17	7	9	0	3	1	1	1	2	0	4	1	4	1	2	1	1	3	2	1	2	7			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:22941101T>C	ENST00000397104.3	-	5	1336	c.1337A>G	c.(1336-1338)tAc>tGc	p.Y446C	ZNF99_ENST00000596209.1_Missense_Mutation_p.Y537C					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTCACATTTGTAGGGTTTCTT	0.343													C	22941101	T	C	22941101	3	2	340	1	0	0	0	0	1	0	0	0	18303	1638	57	3	1787	3	ZNF99	19	22941101	Missense_Mutation	SNP	T	TCGA-DH-5142-01A-01D-1468-08	5902072	22941101	36187882	61	22333											
KCNC3	3748	broad.mit.edu	37	chr19	50826645	50826645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccccgccagggcacacAgcgccccgaccagcatcccc	8	1	9	23	3	0	0	0	0	0	0	1	1	1	0	8	1	2	3	8	1	0	0			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:50826645A>G	ENST00000376959.2	-	2	1728	c.1565T>C	c.(1564-1566)cTg>cCg	p.L522P	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.L522P			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	522					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CAGGGCACACAGCGCCCCGAC	0.602													G	50826645	A	G	50826645	3	3	340	1	0	0	0	0	1	0	0	0	8074	188	7	3	720	3	KCNC3	19	50826645	Missense_Mutation	SNP	A	TCGA-DH-5142-01A-01D-1468-08	27885544	50826645	8302338	62	22334											
ZNF83	55769	broad.mit.edu	37	chr19	53122219	53122219	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggttcctataattctccaAcatcacatctctgtatagag	12	13	5	11	0	3	1	1	0	2	1	6	1	4	1	2	1	1	2	2	1	5	6	rs10402820	by1000genomes	TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr19:53122219A>G	ENST00000594682.2	-	5	439	c.112T>C	c.(112-114)Ttg>Ctg	p.L38L	ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000597161.1_Silent_p.L38L|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000536937.1_5'UTR|ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000600714.1_Silent_p.L38L|ZNF83_ENST00000601257.1_Silent_p.L38L|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000596930.1_Silent_p.L38L	NM_001105552.1|NM_001277945.1|NM_001277946.1|NM_001277948.1	NP_001099022.1|NP_001264874.1|NP_001264875.1|NP_001264877.1	P51522	ZNF83_HUMAN	zinc finger protein 83							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TAATTCTCCAACATCACATCT	0.468													G	53122219	A	G	53122219	2	3	340	1	0	0	0	0	0	0	0	1	18282	58	2	3		3	ZNF83	19	53122219	Silent	SNP	A	TCGA-DH-5142-01A-01D-1468-08	2295574	53122219	6006764	63	22335											
SIRPD	128646	broad.mit.edu	37	chr20	1517834	1517834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccggaggcagcagcaggGttggacgaaatagtttgtgc	10	7	16	8	2	0	0	0	0	0	0	0	3	0	2	1	4	4	5	1	4	2	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:1517834G>T	ENST00000381623.3	-	3	1733	c.544C>A	c.(544-546)Ccc>Acc	p.P182T	SIRPD_ENST00000381621.1_Missense_Mutation_p.P183T			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	182						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGCAGCAGGGTTGGACGAAA	0.607													T	1517834	G	T	1517834	3	4	340	1	0	0	0	0	1	0	0	0	14429	1261	44	4	57	4	SIRPD	20	1517834	Missense_Mutation	SNP	G	TCGA-DH-5142-01A-01D-1468-08		1517834	61507686	64	22336											
DNMT3B	1789	broad.mit.edu	37	chr20	31372610	31372610	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatggggatggctctgacaCcccagtcatgccaaagctct	10	8	11	12	0	3	2	1	1	2	1	3	3	3	3	3	3	2	2	3	3	1	0	rs138276579		TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr20:31372610C>G	ENST00000328111.2	+	4	572	c.251C>G	c.(250-252)aCc>aGc	p.T84S	DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Missense_Mutation_p.T84S|DNMT3B_ENST00000353855.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000344505.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000375623.4_Missense_Mutation_p.T84S|DNMT3B_ENST00000348286.2_Missense_Mutation_p.T84S|DNMT3B_ENST00000201963.3_Missense_Mutation_p.T96S	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	84	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCTCTGACACCCCAGTCATG	0.527													G	31372610	C	G	31372610	3	3	340	1	0	0	0	0	1	0	0	0	4716	507	18	4	301	4	DNMT3B	20	31372610	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08	29854776	31372610	31652910	65	22337											
RTDR1	27156	broad.mit.edu	37	chr22	23401832	23401832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattcaggcgcgctatggtCatgggggagtgcagcagctc	7	8	16	10	2	2	0	2	0	0	0	3	1	2	1	0	4	3	5	0	4	1	2			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chr22:23401832C>T	ENST00000216036.4	-	7	1051	c.855G>A	c.(853-855)atG>atA	p.M285I		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	285							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		GCGCTATGGTCATGGGGGAGT	0.657													T	23401832	C	T	23401832	3	4	340	1	0	0	0	0	1	0	0	0	13810	826	29	2	195	2	RTDR1	22	23401832	Missense_Mutation	SNP	C	TCGA-DH-5142-01A-01D-1468-08		23401832	27902734	66	22338											
ATRX	546	broad.mit.edu	37	chrX	76890086	76890086	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattcttcagctcttaccTgtaaagtcttaccaaggccc	10	13	5	13	0	4	0	1	0	3	0	4	0	4	0	3	1	3	2	3	1	6	6			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:76890086T>C	ENST00000373344.5	-	17	5022	c.4808A>G	c.(4807-4809)cAg>cGg	p.Q1603R	ATRX_ENST00000395603.3_Splice_Site_p.Q1565R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1603	Helicase ATP-binding.				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)	AGCTCTTACCTGTAAAGTCTT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76890086	T	C	76890086	5	2	340	1	0	0	0	0	0	0	1	0	1213	1594	55	3	2746	3	ATRX	23	76890086	Splice_Site	SNP	T	TCGA-DH-5142-01A-01D-1468-08		76890086	78380474	67	22339											
VSIG1	340547	broad.mit.edu	37	chrX	107310285	107310285	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatgcagccagcagacagTggaatttacatctgcgatgt	12	10	10	9	1	1	1	0	0	1	1	1	3	1	2	1	1	5	2	1	1	3	3			TCGA-DH-5142-01A-01D-1468-08	TCGA-DH-5142-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a80ae1c-948a-4a98-b0c2-f81ab2415083	25f1462b-2671-4f5d-85e0-9539594b53e4	g.chrX:107310285T>C	ENST00000415430.3	+	4	602	c.441T>C	c.(439-441)agT>agC	p.S147S	VSIG1_ENST00000217957.5_Silent_p.S111S|VSIG1_ENST00000485533.1_3'UTR	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	111	Ig-like C2-type 2.		V -> I (in dbSNP:rs17254305).			integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAGCAGACAGTGGAATTTACA	0.463													C	107310285	T	C	107310285	2	2	340	1	0	0	0	0	0	0	0	1	17324	1693	59	3		3	VSIG1	23	107310285	Silent	SNP	T	TCGA-DH-5142-01A-01D-1468-08	30420199	107310285	47960275	68	22340											
CROCC	9696	broad.mit.edu	37	chr1	17185383	17185384	+	RNA	INS	-	-	C																															ccggcccatactaaatttttINSagtgcaataatttatcaggg																								rs33920141	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:17185383_17185384insC	ENST00000414128.1	+	0	646																											ACTAAATTTTTAGTGCAATAAT	0.465													C	17185384	-	C	17185383	6	5	341	0	1	1	1	0	0	0	0	0	3924	1769	61	0		0	CROCC	1	17185383	RNA	INS	-	TCGA-DH-5143-01A-01D-1468-08		17185383	232065238	1	22341											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-																															ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg																										TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													-	32670248	TG	-	32670247	7	5	341	1	0	1	0	1	0	0	0	0	2830	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-DH-5143-01A-01D-1468-08	15484864	32670247	216580374	2	22342											
SPAG17	200162	broad.mit.edu	37	chr1	118523986	118523986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggaagactaggcacacTtgaggatttctgttctgaaa	11	14	10	6	0	2	3	0	2	2	1	2	5	2	5	0	3	0	2	0	3	3	6			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:118523986T>C	ENST00000336338.5	-	43	5976	c.5911A>G	c.(5911-5913)Agt>Ggt	p.S1971G	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1971						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTAGGCACACTTGAGGATTTC	0.343													C	118523986	T	C	118523986	3	2	341	1	0	0	0	0	1	0	0	0	15075	1609	56	3	784	3	SPAG17	1	118523986	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	85853739	118523986	130726635	3	22343											
TBX15	6913	broad.mit.edu	37	chr1	119428085	119428085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaaagatgagaagaagccGaaggggatggtgtcccagtg	15	6	15	5	1	0	3	0	1	0	3	1	6	1	4	2	3	1	0	2	3	5	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:119428085G>A	ENST00000369429.3	-	8	1088	c.1079C>T	c.(1078-1080)tCg>tTg	p.S360L	TBX15_ENST00000207157.3_Missense_Mutation_p.S254L			Q96SF7	TBX15_HUMAN	T-box 15	360						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		AGAAGAAGCCGAAGGGGATGG	0.478													A	119428085	G	A	119428085	3	1	341	1	0	0	0	0	1	0	0	0	15752	1059	37	1	733	1	TBX15	1	119428085	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	904099	119428085	129822536	4	22344											
F5	2153	broad.mit.edu	37	chr1	169529938	169529938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccattcataggtgtatTctcggcctggagccacagcg	8	11	10	12	2	2	0	1	0	1	0	4	1	3	1	3	3	3	1	3	3	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:169529938T>C	ENST00000367796.3	-	4	641	c.440A>G	c.(439-441)gAa>gGa	p.E147G	F5_ENST00000367797.3_Missense_Mutation_p.E147G|F5_ENST00000546081.1_Missense_Mutation_p.E10G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	147	F5/8 type A 1.|Plastocyanin-like 1.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ATAGGTGTATTCTCGGCCTGG	0.517													C	169529938	T	C	169529938	3	2	341	1	0	0	0	0	1	0	0	0	5390	1783	62	3	6322	3	F5	1	169529938	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	50101853	169529938	79720683	5	22345											
BPNT1	10380	broad.mit.edu	37	chr1	220240686	220240686	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaataactcctgctatggcTtttccttcataagcaattcc	10	16	4	11	0	1	0	1	0	0	0	4	0	4	0	3	1	3	3	3	1	5	8			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:220240686T>C	ENST00000469520.2	-	7	881	c.432A>G	c.(430-432)aaA>aaG	p.K144K	BPNT1_ENST00000322067.7_Silent_p.K144K|BPNT1_ENST00000482136.1_5'UTR|BPNT1_ENST00000544404.1_Silent_p.K89K|BPNT1_ENST00000414869.2_Silent_p.K108K|BPNT1_ENST00000354807.3_Silent_p.K144K			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	144					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		CTGCTATGGCTTTTCCTTCAT	0.289													C	220240686	T	C	220240686	2	2	341	1	0	0	0	0	0	0	0	1	1503	1606	56	3		3	BPNT1	1	220240686	Silent	SNP	T	TCGA-DH-5143-01A-01D-1468-08	50710748	220240686	29009935	6	22346											
PCNXL2	80003	broad.mit.edu	37	chr1	233150467	233150467	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctccccagggtgcacagGgcgaaggacagagtcaccaa	11	4	12	14	1	1	1	1	0	0	1	3	3	3	2	4	3	1	1	4	3	2	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr1:233150467G>C	ENST00000258229.9	-	28	5130	c.4896C>G	c.(4894-4896)gcC>gcG	p.A1632A	PCNXL2_ENST00000344698.2_Silent_p.A284A	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GGGTGCACAGGGCGAAGGACA	0.537													C	233150467	G	C	233150467	2	2	341	1	0	0	0	0	0	0	0	1	11668	1219	43	4		4	PCNXL2	1	233150467	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	12909781	233150467	16100154	7	22347											
DUSP11	8446	broad.mit.edu	37	chr2	74002107	74002107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttcttcattttgttctCggattttgttaaaaagatcc	10	18	6	7	1	3	1	1	0	2	1	5	2	4	2	1	1	0	3	1	1	4	8			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:74002107C>A	ENST00000443070.1	-	3	388	c.383G>T	c.(382-384)cGa>cTa	p.R128L	DUSP11_ENST00000272444.3_Missense_Mutation_p.R128L|DUSP11_ENST00000377706.4_Missense_Mutation_p.R81L|DUSP11_ENST00000480948.1_5'UTR			O75319	DUS11_HUMAN	dual specificity phosphatase 11 (RNA/RNP complex 1-interacting)	81	Tyrosine-protein phosphatase.				RNA processing	nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|skin(1)	12						ATTTTGTTCTCGGATTTTGTT	0.338													A	74002107	C	A	74002107	3	1	341	1	0	0	0	0	1	0	0	0	4850	884	31	4	778	4	DUSP11	2	74002107	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		74002107	169197266	8	22348											
HOXD4	3233	broad.mit.edu	37	chr2	177017514	177017514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcaagatctggttccagaaCcggaggatgaagtggaaaaa	16	7	12	6	1	2	3	1	1	1	2	3	6	3	6	2	4	1	1	2	4	5	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:177017514C>A	ENST00000306324.3	+	2	1024	c.612C>A	c.(610-612)aaC>aaA	p.N204K	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		GGTTCCAGAACCGGAGGATGA	0.502													A	177017514	C	A	177017514	3	1	341	1	0	0	0	0	1	0	0	0	7379	506	18	4	618	4	HOXD4	2	177017514	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	103015407	177017514	66181859	9	22349											
ZDBF2	57683	broad.mit.edu	37	chr2	207169636	207169636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaatctcaggaaggcacGcaggaggtttcagttcgacc	12	8	11	10	2	2	0	2	0	1	0	4	3	2	2	1	4	0	4	1	4	3	3	rs143619911	by1000genomes	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:207169636G>A	ENST00000374423.3	+	5	770	c.384G>A	c.(382-384)acG>acA	p.T128T		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	128							nucleic acid binding|zinc ion binding	p.T128T(1)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGGAAGGCACGCAGGAGGTTT	0.453													A	207169636	G	A	207169636	2	1	341	1	0	0	0	0	0	0	0	1	17700	1074	38	1		1	ZDBF2	2	207169636	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	30152122	207169636	36029737	10	22350											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	341	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	1943476	209113112	34086261	11	22351											
EPHA4	2043	broad.mit.edu	37	chr2	222347239	222347239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtggggtgtagtggAccccacttccacagggtcgg	5	10	15	11	1	1	0	0	0	1	0	3	1	2	1	3	5	1	2	3	5	1	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr2:222347239A>G	ENST00000281821.2	-	5	1192	c.1151T>C	c.(1150-1152)gTc>gCc	p.V384A	EPHA4_ENST00000409938.1_Missense_Mutation_p.V384A|EPHA4_ENST00000409854.1_Missense_Mutation_p.V384A|EPHA4_ENST00000392071.4_Missense_Mutation_p.V333A	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	384	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAGTGGACCCCACTTCC	0.512													G	222347239	A	G	222347239	3	3	341	1	0	0	0	0	1	0	0	0	5210	275	10	3	1861	3	EPHA4	2	222347239	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	13234127	222347239	20852134	12	22352											
MLH1	4292	broad.mit.edu	37	chr3	37045902	37045902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttccttaggctttggccaGcataagccatgtggctcatg	7	13	10	11	0	2	0	1	0	1	0	3	0	3	0	3	3	2	3	3	3	2	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:37045902G>A	ENST00000231790.2	+	4	533	c.317G>A	c.(316-318)aGc>aAc	p.S106N	MLH1_ENST00000458205.2_5'UTR|MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000435176.1_Missense_Mutation_p.S8N	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	106			S -> R (in gastric cancer; uncertain pathogenicity).		mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GCTTTGGCCAGCATAAGCCAT	0.408		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	37045902	G	A	37045902	3	1	341	1	0	0	0	0	1	0	0	0	9692	971	34	2	331	2	MLH1	3	37045902	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		37045902	160976528	13	22353											
HIGD1A	25994	broad.mit.edu	37	chr3	42835698	42835698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgaatgagttttgatccCtgatcttcctcatatgaagg	9	16	8	8	1	2	4	1	4	1	0	5	5	4	4	2	1	0	1	2	1	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr3:42835698C>A	ENST00000321331.7	-	2	165	c.48G>T	c.(46-48)caG>caT	p.Q16H	HIGD1A_ENST00000430190.1_Missense_Mutation_p.Q16H|HIGD1A_ENST00000470543.1_Intron|HIGD1A_ENST00000418900.2_Missense_Mutation_p.Q16H|HIGD1A_ENST00000452906.2_Missense_Mutation_p.Q30H	NM_001099669.1|NM_014056.3	NP_001093139.1|NP_054775.2	Q9Y241	HIG1A_HUMAN	HIG1 hypoxia inducible domain family, member 1A	16	HIG1.				response to stress	integral to membrane|protein complex	protein binding			lung(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GTTTTGATCCCTGATCTTCCT	0.398													A	42835698	C	A	42835698	3	1	341	1	0	0	0	0	1	0	0	0	7161	680	24	4	245	4	HIGD1A	3	42835698	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	5789796	42835698	155186732	14	22354											
GABRB1	2560	broad.mit.edu	37	chr4	47427893	47427893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggtacccagcaaggggcGcatccgcaggcgtgcctccc	6	4	15	16	4	0	0	0	0	0	0	2	0	2	0	4	5	3	4	4	5	2	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:47427893G>A	ENST00000295454.3	+	9	1575	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R358H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	428					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGCAAGGGGCGCATCCGCAGG	0.607													A	47427893	G	A	47427893	3	1	341	1	0	0	0	0	1	0	0	0	6218	1087	38	1	1317	1	GABRB1	4	47427893	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		47427893	143726383	15	22355											
CEP135	9662	broad.mit.edu	37	chr4	56823426	56823426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgctttcaggcgccagcgTatgcaaattgatgaaccggt	10	11	11	9	3	1	2	1	2	0	0	1	2	1	2	2	2	4	3	2	2	3	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr4:56823426T>C	ENST00000257287.4	+	5	634	c.510T>C	c.(508-510)cgT>cgC	p.R170R	CEP135_ENST00000422247.2_Silent_p.R170R	NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	170					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGCGCCAGCGTATGCAAATTG	0.398													C	56823426	T	C	56823426	2	2	341	1	0	0	0	0	0	0	0	1	3277	1625	57	3		3	CEP135	4	56823426	Silent	SNP	T	TCGA-DH-5143-01A-01D-1468-08	9395533	56823426	134330850	16	22356											
MYOT	9499	broad.mit.edu	37	chr5	137222679	137222679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtaacacaagattagaCgttacgggtatgtcatacta	15	11	8	7	2	1	2	1	0	0	2	1	2	1	2	0	1	3	3	0	1	7	6	rs147891371		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:137222679C>A	ENST00000239926.4	+	9	1691	c.1317C>A	c.(1315-1317)gaC>gaA	p.D439E	RP11-381K20.2_ENST00000514616.1_RNA|MYOT_ENST00000421631.2_Missense_Mutation_p.D255E|RP11-381K20.2_ENST00000508281.2_RNA|MYOT_ENST00000515645.1_Missense_Mutation_p.D324E	NM_006790.2	NP_006781	Q9UBF9	MYOTI_HUMAN	myotilin	439	Ig-like C2-type 2.|Necessary for interaction with ACTA1.|Necessary for interaction with FLNC.				muscle contraction	actin cytoskeleton|sarcolemma|sarcomere	actin binding|structural constituent of muscle			cervix(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAGATTAGACGTTACGGGTA	0.328													A	137222679	C	A	137222679	3	1	341	1	0	0	0	0	1	0	0	0	10170	535	19	4	1347	4	MYOT	5	137222679	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		137222679	43692581	17	22357											
SLIT3	6586	broad.mit.edu	37	chr5	168112756	168112756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttccacgtaggagtctttgCccacgaagttgacagtgatg	9	11	12	9	2	1	2	0	2	1	0	2	4	2	3	2	1	1	3	2	1	2	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr5:168112756C>T	ENST00000519560.1	-	31	3910	c.3491G>A	c.(3490-3492)gGc>gAc	p.G1164D	SLIT3_ENST00000332966.8_Missense_Mutation_p.G1171D|SLIT3_ENST00000404867.3_Missense_Mutation_p.G1164D	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1164	Laminin G-like.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGAGTCTTTGCCCACGAAGTT	0.662													T	168112756	C	T	168112756	3	4	341	1	0	0	0	0	1	0	0	0	14835	739	26	2	1104	2	SLIT3	5	168112756	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	30890077	168112756	12802504	18	22358											
EXOC2	55770	broad.mit.edu	37	chr6	572531	572531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatacacacctcactgaagaGgcttccattaacgtaggaga	14	9	8	10	1	1	3	1	1	0	2	2	4	2	3	2	2	2	2	2	2	5	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:572531G>A	ENST00000230449.4	-	13	1567	c.1432C>T	c.(1432-1434)Ctc>Ttc	p.L478F	EXOC2_ENST00000448181.3_Missense_Mutation_p.L73F	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	478					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TCACTGAAGAGGCTTCCATTA	0.438													A	572531	G	A	572531	3	1	341	1	0	0	0	0	1	0	0	0	5343	1000	35	2	1406	2	EXOC2	6	572531	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		572531	170542536	19	22359											
FAM65B	9750	broad.mit.edu	37	chr6	24843453	24843453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacctgaggactgtcggcgGcaagcctcagatggggccga	8	5	16	12	3	1	2	1	1	0	1	2	4	1	3	3	5	1	2	3	5	1	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:24843453G>A	ENST00000259698.4	-	14	1732	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	FAM65B_ENST00000538035.1_Silent_p.C498C|FAM65B_ENST00000540914.1_Silent_p.C469C|FAM65B_ENST00000510784.2_Silent_p.C503C|FAM65B_ENST00000378023.4_Silent_p.C469C	NM_014722.2	NP_055537.2	Q9Y4F9	FA65B_HUMAN	family with sequence similarity 65, member B	519					cell differentiation|muscle organ development	cytoskeleton|filopodium|mitochondrion	binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	25						ACTGTCGGCGGCAAGCCTCAG	0.587													A	24843453	G	A	24843453	2	1	341	1	0	0	0	0	0	0	0	1	5650	1195	42	2		2	FAM65B	6	24843453	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	24270922	24843453	146271614	20	22360											
PIM1	5292	broad.mit.edu	37	chr6	37138975	37138975	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtttctccggcgtcattagGctcctggactggttcgagag	5	12	14	10	3	2	1	1	0	1	1	5	3	3	2	2	5	0	3	2	5	1	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr6:37138975G>C	ENST00000373509.5	+	4	688	c.315G>C	c.(313-315)agG>agC	p.R105S		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	196					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	GCGTCATTAGGCTCCTGGACT	0.617			T	BCL6	NHL								C	37138975	G	C	37138975	3	2	341	1	0	0	0	0	1	0	0	0	12004	1194	42	4	329	4	PIM1	6	37138975	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	12295522	37138975	133976092	21	22361											
TBRG4	9238	broad.mit.edu	37	chr7	45148519	45148519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagacagcaagtgagagagCcggataagtaccattgctgc	13	7	12	9	1	1	3	1	1	0	2	1	5	1	4	2	1	5	3	2	1	3	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:45148519C>T	ENST00000258770.3	-	2	439	c.318G>A	c.(316-318)cgG>cgA	p.R106R	TBRG4_ENST00000395655.4_Silent_p.R106R|TBRG4_ENST00000494076.1_Silent_p.R106R|TBRG4_ENST00000471142.1_5'UTR|TBRG4_ENST00000361278.3_Silent_p.R106R	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	106					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						AGTGAGAGAGCCGGATAAGTA	0.517													T	45148519	C	T	45148519	2	4	341	1	0	0	0	0	0	0	0	1	15749	726	26	2		2	TBRG4	7	45148519	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08		45148519	113990144	22	22362											
RBM33	155435	broad.mit.edu	37	chr7	155530752	155530752	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgttgtgttacctttcAgtttcaggtgaaccaagatt	10	16	9	6	0	2	3	2	2	0	1	2	3	2	3	2	1	2	3	2	1	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr7:155530752A>G	ENST00000401878.3	+	11	1591		c.e11-1			NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33								nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		GTTACCTTTCAGTTTCAGGTG	0.468													G	155530752	A	G	155530752	5	3	341	1	0	0	0	0	0	0	1	0	13218	202	7	3	1434	3	RBM33	7	155530752	Splice_Site	SNP	A	TCGA-DH-5143-01A-01D-1468-08	110382233	155530752	3607911	23	22363											
DPYS	1807	broad.mit.edu	37	chr8	105459569	105459569	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgcaattaagtctcCattttccgcatggacctggg	8	13	8	12	1	2	0	0	0	2	0	4	1	3	1	4	2	2	2	4	2	3	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:105459569C>A	ENST00000351513.2	-	3	718	c.586G>T	c.(586-588)Gga>Tga	p.G196*		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	196					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTAAGTCTCCATTTTCCGCA	0.458													A	105459569	C	A	105459569	4	1	341	1	0	0	0	0	0	1	0	0	4785	603	21	4	1001	4	DPYS	8	105459569	Nonsense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		105459569	40904453	24	22364											
ZFAT	57623	broad.mit.edu	37	chr8	135614421	135614421	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaccagctgtagctggTcccccagagcttcttgctgg	5	11	10	15	0	1	1	0	0	1	1	3	1	3	1	4	2	4	5	4	2	1	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr8:135614421T>C	ENST00000520727.1	-	7	1804	c.1505A>G	c.(1504-1506)gAc>gGc	p.D502G	ZFAT_ENST00000520214.1_Missense_Mutation_p.D502G|ZFAT_ENST00000429442.2_Missense_Mutation_p.D502G|ZFAT_ENST00000523399.1_Missense_Mutation_p.D452G|ZFAT_ENST00000520356.1_Missense_Mutation_p.D502G|ZFAT_ENST00000377838.3_Missense_Mutation_p.D514G	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	514					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			CTGTAGCTGGTCCCCCAGAGC	0.617													C	135614421	T	C	135614421	3	2	341	1	0	0	0	0	1	0	0	0	17733	1667	58	3	2234	3	ZFAT	8	135614421	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	30154852	135614421	10749601	25	22365											
KIF24	347240	broad.mit.edu	37	chr9	34256411	34256411	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctccgagggaggaGacccttcgttgtctgggttc	5	10	14	12	2	1	1	0	0	1	1	4	4	2	2	3	3	2	4	3	3	0	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr9:34256411G>T	ENST00000379166.2	-	11	3313	c.3194C>A	c.(3193-3195)tCt>tAt	p.S1065Y	KIF24_ENST00000402558.2_Missense_Mutation_p.S1065Y|KIF24_ENST00000379174.3_Missense_Mutation_p.S931Y|KIF24_ENST00000345050.2_Missense_Mutation_p.S931Y	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1065					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CGAGGGAGGAGACCCTTCGTT	0.592													T	34256411	G	T	34256411	3	4	341	1	0	0	0	0	1	0	0	0	8350	942	33	4	924	4	KIF24	9	34256411	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		34256411	106957020	26	22366											
ODF3	113746	broad.mit.edu	37	chr11	200001	200001	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggcatcaaacactctgatTacatgactcccctgctggtt	9	12	7	13	1	2	2	1	2	1	0	4	2	3	2	2	2	3	3	2	2	2	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:200001T>G	ENST00000325113.4	+	7	1050	c.733T>G	c.(733-735)Tac>Gac	p.Y245D	BET1L_ENST00000410108.1_Intron|ODF3_ENST00000525282.1_Missense_Mutation_p.Y198D	NM_053280.3	NP_444510.2	Q96PU9	ODF3A_HUMAN	outer dense fiber of sperm tails 3	245					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm				biliary_tract(1)|breast(1)|kidney(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)	9		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.95e-27)|Epithelial(43;2.66e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.55e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACACTCTGATTACATGACTCC	0.607													G	200001	T	G	200001	3	3	341	1	0	0	0	0	1	0	0	0	10905	1754	61	5	755	5	ODF3	11	200001	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		200001	134806515	27	22367											
NAT10	55226	broad.mit.edu	37	chr11	34152413	34152413	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaattcagcagctccgtcAacagagcgcccagagccagg	11	5	11	14	2	2	2	2	0	0	2	3	2	3	2	3	1	5	3	3	1	2	2	rs147641652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:34152413A>C	ENST00000257829.3	+	13	1504	c.1298A>C	c.(1297-1299)cAa>cCa	p.Q433P	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Missense_Mutation_p.Q361P	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	433						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				CAGCTCCGTCAACAGAGCGCC	0.567													C	34152413	A	C	34152413	3	2	341	1	0	0	0	0	1	0	0	0	10250	130	5	5	1344	5	NAT10	11	34152413	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	33952412	34152413	100854103	28	22368											
OR5A1	219982	broad.mit.edu	37	chr11	59211549	59211549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacaaagagatcaaggatgCcctgtggaaggtgttggaaa	15	7	14	5	0	1	1	1	0	0	1	1	6	1	4	1	4	2	1	1	4	5	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:59211549C>T	ENST00000302030.2	+	1	933	c.908C>T	c.(907-909)gCc>gTc	p.A303V		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						ATCAAGGATGCCCTGTGGAAG	0.428													T	59211549	C	T	59211549	3	4	341	1	0	0	0	0	1	0	0	0	11215	739	26	2	910	2	OR5A1	11	59211549	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	25059136	59211549	75794967	29	22369											
ARAP1	116985	broad.mit.edu	37	chr11	72410502	72410502	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaggcacacaatctCgctggcccgaatctctccat	9	8	7	17	2	2	0	0	0	2	0	5	1	3	0	3	2	1	2	3	2	2	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr11:72410502C>A	ENST00000359373.5	-	17	3249	c.2398G>T	c.(2398-2400)Gag>Tag	p.E800*	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393605.3_Nonsense_Mutation_p.E560*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.E555*|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.E800*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.E800*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.E494*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.E555*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	800	PH 3.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CACACAATCTCGCTGGCCCGA	0.592													A	72410502	C	A	72410502	4	1	341	1	0	0	0	0	0	1	0	0	841	893	31	4	2030	4	ARAP1	11	72410502	Nonsense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	13198953	72410502	62596014	30	22370											
FOXJ2	55810	broad.mit.edu	37	chr12	8200512	8200512	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggggacatcccaccctcGaacaactactacatgtatca	12	8	7	14	1	1	0	1	0	0	0	3	2	2	1	2	2	4	1	2	2	5	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:8200512G>A	ENST00000162391.3	+	7	1997	c.852G>A	c.(850-852)tcG>tcA	p.S284S	FOXJ2_ENST00000428177.2_Silent_p.S284S	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	284					embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		TCCCACCCTCGAACAACTACT	0.567													A	8200512	G	A	8200512	2	1	341	1	0	0	0	0	0	0	0	1	6063	1045	37	1		1	FOXJ2	12	8200512	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08		8200512	125651383	31	22371											
A2M	2	broad.mit.edu	37	chr12	9243977	9243977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccctgccttccactcGgtgatggtgtcagggactgt	6	10	13	12	1	1	1	1	1	0	0	3	2	2	2	4	4	1	0	4	4	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9243977G>A	ENST00000318602.7	-	19	2596	c.2289C>T	c.(2287-2289)acC>acT	p.T763T		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	763					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CCTTCCACTCGGTGATGGTGT	0.522													A	9243977	G	A	9243977	2	1	341	1	0	0	0	0	0	0	0	1	4	1103	39	1		1	A2M	12	9243977	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	1043465	9243977	124607918	32	22372											
PZP	5858	broad.mit.edu	37	chr12	9317915	9317915	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcccctgccttccactcGgtgatggtgtcagggactgt	6	10	13	12	1	1	1	1	1	0	0	3	2	2	2	4	4	1	0	4	4	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:9317915G>A	ENST00000261336.2	-	19	2335	c.2307C>T	c.(2305-2307)acC>acT	p.T769T	PZP_ENST00000539983.1_5'UTR|PZP_ENST00000381997.2_Silent_p.T638T	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CCTTCCACTCGGTGATGGTGT	0.537													A	9317915	G	A	9317915	2	1	341	1	0	0	0	0	0	0	0	1	12957	1103	39	1		1	PZP	12	9317915	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08	73938	9317915	124533980	33	22373											
MANSC1	54682	broad.mit.edu	37	chr12	12483294	12483294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttggagatttctgtaaaCggtatggtttctaagctgcc	9	14	12	6	1	2	1	0	0	2	1	2	2	2	1	1	4	3	5	1	4	4	6	rs146158847	byFrequency	TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr12:12483294C>T	ENST00000535902.1	-	4	1526	c.963G>A	c.(961-963)ccG>ccA	p.P321P	MANSC1_ENST00000545735.1_Silent_p.P240P|MANSC1_ENST00000396349.3_Silent_p.P287P			Q9H8J5	MANS1_HUMAN	MANSC domain containing 1	321	Thr-rich.					integral to membrane				breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|skin(1)|stomach(4)	23		Prostate(47;0.0865)		BRCA - Breast invasive adenocarcinoma(232;0.185)		TTTCTGTAAACGGTATGGTTT	0.458													T	12483294	C	T	12483294	2	4	341	1	0	0	0	0	0	0	0	1	9299	523	19	1		1	MANSC1	12	12483294	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	3165379	12483294	121368601	34	22374											
COCH	1690	broad.mit.edu	37	chr14	31348670	31348670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacaggacaagcagtgTccacagcacatccaccaaca	15	3	8	15	0	0	0	0	0	0	0	2	1	2	1	4	2	3	2	4	2	2	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31348670T>C	ENST00000460581.2	+	4	625	c.79T>C	c.(79-81)Tcc>Ccc	p.S27P	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000475087.1_Missense_Mutation_p.S139P|COCH_ENST00000396618.3_Missense_Mutation_p.S139P|COCH_ENST00000216361.4_Missense_Mutation_p.S139P			O43405	COCH_HUMAN	cochlin	139					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		ACAAGCAGTGTCCACAGCACA	0.393													C	31348670	T	C	31348670	3	2	341	1	0	0	0	0	1	0	0	0	3687	1667	58	3	433	3	COCH	14	31348670	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		31348670	76000870	35	22375											
STRN3	29966	broad.mit.edu	37	chr14	31380280	31380280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatctacactgggactcgGcatattccaccactggatgg	9	10	11	11	1	1	0	0	0	1	0	3	3	2	3	2	5	1	1	2	5	2	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:31380280G>A	ENST00000355683.5	-	11	1650	c.1435C>T	c.(1435-1437)Ccg>Tcg	p.P479S	STRN3_ENST00000357479.5_Missense_Mutation_p.P563S	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	563					negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	p.P479T(1)		NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		CTGGGACTCGGCATATTCCAC	0.368													A	31380280	G	A	31380280	3	1	341	1	0	0	0	0	1	0	0	0	15426	1203	42	2	730	2	STRN3	14	31380280	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	31610	31380280	75969260	36	22376											
YLPM1	56252	broad.mit.edu	37	chr14	75248158	75248159	+	Frame_Shift_Del	DEL	AT	AT	-																															acaactccattcctatcctcAtaaagatcagcttcaggagt																										TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:75248158_75248159delAT	ENST00000325680.7	+	4	1536_1537	c.1412_1413delAT	c.(1411-1413)catfs	p.H471fs	YLPM1_ENST00000552421.1_Frame_Shift_Del_p.H471fs|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		TCCTATCCTCATAAAGATCAGC	0.446													-	75248159	AT	-	75248158	7	5	341	1	0	1	0	1	0	0	0	0	17588	217	8	0	1426	0	YLPM1	14	75248158	Frame_Shift_Del	DEL	AT	TCGA-DH-5143-01A-01D-1468-08	43867878	75248158	32101382	37	22377											
GPR132	29933	broad.mit.edu	37	chr14	105518221	105518221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtacagcagctcgcagagtgCcaggcagagcaggtagacgg	11	4	16	10	2	0	3	0	0	0	3	1	3	0	3	1	3	5	7	1	3	2	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105518221C>T	ENST00000329797.3	-	4	1164	c.253G>A	c.(253-255)Gca>Aca	p.A85T	GPR132_ENST00000392585.2_Missense_Mutation_p.A76T|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000539291.2_Missense_Mutation_p.A85T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	85					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A85T(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		TCGCAGAGTGCCAGGCAGAGC	0.657													T	105518221	C	T	105518221	3	4	341	1	0	0	0	0	1	0	0	0	6696	739	26	2	893	2	GPR132	14	105518221	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	30270063	105518221	1831319	38	22378											
BRF1	2972	broad.mit.edu	37	chr14	105752650	105752650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccattctgcagggtctgcGctctcgactccttccccaga	6	11	8	16	2	3	1	0	0	3	1	6	2	5	1	4	1	3	2	4	1	1	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr14:105752650G>A	ENST00000546474.1	-	2	15207	c.248C>T	c.(247-249)gCg>gTg	p.A83V	BRF1_ENST00000379937.2_Intron|BRF1_ENST00000327359.3_5'UTR|BRF1_ENST00000548421.1_Missense_Mutation_p.A83V|BRF1_ENST00000440513.3_5'UTR	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	83					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		CAGGGTCTGCGCTCTCGACTC	0.587													A	105752650	G	A	105752650	3	1	341	1	0	0	0	0	1	0	0	0	1519	1087	38	1	1853	1	BRF1	14	105752650	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	234429	105752650	1596890	39	22379											
RYR3	6263	broad.mit.edu	37	chr15	34130251	34130251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcagaaagtgtgctaaatTacttcgaaccctacctagga	14	9	8	10	1	0	1	0	0	0	1	1	3	0	2	2	1	5	2	2	1	7	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:34130251T>C	ENST00000389232.4	+	89	12140	c.12070T>C	c.(12070-12072)Tac>Cac	p.Y4024H	RYR3_ENST00000415757.3_Missense_Mutation_p.Y4019H	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4024					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TGTGCTAAATTACTTCGAACC	0.468													C	34130251	T	C	34130251	3	2	341	1	0	0	0	0	1	0	0	0	13861	1754	61	3	12424	3	RYR3	15	34130251	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		34130251	68401141	40	22380											
HDC	3067	broad.mit.edu	37	chr15	50555560	50555560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgtcacacgtctctcccGcacagtgctcaggtactggc	6	9	11	15	3	3	0	2	0	1	0	5	0	4	0	1	3	2	3	1	3	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:50555560G>A	ENST00000267845.3	-	2	478	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	HDC_ENST00000543581.1_Missense_Mutation_p.R26W	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	26					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	CGTCTCTCCCGCACAGTGCTC	0.577													A	50555560	G	A	50555560	3	1	341	1	0	0	0	0	1	0	0	0	7070	1086	38	1	1956	1	HDC	15	50555560	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	16425309	50555560	51975832	41	22381											
HEXA	3073	broad.mit.edu	37	chr15	72668152	72668152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactgagcagccgggctgCgcggccgagctgacatcgta	8	5	16	12	5	0	2	0	2	0	0	1	4	0	3	2	3	4	4	2	3	1	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr15:72668152C>T	ENST00000268097.5	-	1	665	c.162G>A	c.(160-162)gcG>gcA	p.A54A	RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000567159.1_Silent_p.A54A|HEXA_ENST00000567213.1_5'UTR|HEXA_ENST00000566304.1_Silent_p.A54A|HEXA_ENST00000429918.2_5'UTR|HEXA_ENST00000457859.2_5'UTR	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	54					cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						AGCCGGGCTGCGCGGCCGAGC	0.617													T	72668152	C	T	72668152	2	4	341	1	0	0	0	0	0	0	0	1	7128	755	27	1		1	HEXA	15	72668152	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	22112592	72668152	29863240	42	22382											
CHD9	80205	broad.mit.edu	37	chr16	53338156	53338156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaatctgagcctgtaagtCcaaagaatggtgttttacca	14	12	8	7	0	1	2	0	1	1	1	2	2	2	2	3	1	2	2	3	1	6	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:53338156C>A	ENST00000566029.1	+	31	6447	c.6238C>A	c.(6238-6240)Cca>Aca	p.P2080T	CHD9_ENST00000564845.1_Missense_Mutation_p.P2080T|CHD9_ENST00000398510.3_Missense_Mutation_p.P2080T|CHD9_ENST00000447540.1_Missense_Mutation_p.P2080T			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2080					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GCCTGTAAGTCCAAAGAATGG	0.428													A	53338156	C	A	53338156	3	1	341	1	0	0	0	0	1	0	0	0	3362	855	30	4	6356	4	CHD9	16	53338156	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		53338156	37016597	43	22383											
KIFC3	3801	broad.mit.edu	37	chr16	57805333	57805333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgggacagcttgtcaCggagctgggcgctctcctgc	5	8	15	13	2	2	0	1	0	1	0	3	2	2	2	1	3	4	5	1	3	0	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr16:57805333C>T	ENST00000379655.4	-	6	799	c.542G>A	c.(541-543)cGt>cAt	p.R181H	KIFC3_ENST00000540079.2_Missense_Mutation_p.R79H|KIFC3_ENST00000421376.2_Missense_Mutation_p.R42H|KIFC3_ENST00000539578.1_Missense_Mutation_p.R123H|KIFC3_ENST00000541240.1_Missense_Mutation_p.R203H|KIFC3_ENST00000543930.1_Missense_Mutation_p.R42H|KIFC3_ENST00000445690.2_Missense_Mutation_p.R181H|KIFC3_ENST00000465878.2_Missense_Mutation_p.R42H|KIFC3_ENST00000562903.1_Missense_Mutation_p.R42H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	181					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CAGCTTGTCACGGAGCTGGGC	0.627													T	57805333	C	T	57805333	3	4	341	1	0	0	0	0	1	0	0	0	8372	536	19	1	2024	1	KIFC3	16	57805333	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	4467177	57805333	32549420	44	22384											
TP53	7157	broad.mit.edu	37	chr17	7577144	7577144	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgttccgtcccAgtagattaccactactcagg	10	10	7	14	1	2	1	2	0	0	1	4	1	4	1	4	1	3	3	4	1	4	4			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577144A>C	ENST00000420246.2	-	8	926	c.794T>G	c.(793-795)cTg>cGg	p.L265R	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.L265R|TP53_ENST00000455263.2_Missense_Mutation_p.L265R|TP53_ENST00000445888.2_Missense_Mutation_p.L265R|TP53_ENST00000269305.4_Missense_Mutation_p.L265R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)		GTTCCGTCCCAGTAGATTACC	0.522		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)			C	7577144	A	C	7577144	3	2	341	1	0	0	0	0	1	0	0	0	16482	188	7	5	492	5	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08		7577144	73618066	45	22385											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	341	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	394	7577538	73617672	46	22386											
ACACA	31	broad.mit.edu	37	chr17	35600456	35600456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgagggttttcatcaatCgctctacccagtcttttacc	7	15	6	13	1	5	1	2	1	3	0	6	1	5	1	2	1	2	2	2	1	3	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:35600456C>T	ENST00000353139.5	-	22	3243	c.2762G>A	c.(2761-2763)cGa>cAa	p.R921Q	ACACA_ENST00000335166.5_Missense_Mutation_p.R806Q|ACACA_ENST00000394406.2_Missense_Mutation_p.R884Q|ACACA_ENST00000360679.3_Missense_Mutation_p.R826Q	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	884					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TTTCATCAATCGCTCTACCCA	0.423													T	35600456	C	T	35600456	3	4	341	1	0	0	0	0	1	0	0	0	106	884	31	1	4529	1	ACACA	17	35600456	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	28022918	35600456	45594754	47	22387											
RGS9	8787	broad.mit.edu	37	chr17	63200387	63200387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgctatgtgctggacgccGcacaaacccacatttacatg	11	8	8	14	3	0	0	0	0	0	0	0	1	0	1	3	1	3	3	3	1	3	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:63200387G>A	ENST00000449996.3	+	15	1234	c.1162G>A	c.(1162-1164)Gca>Aca	p.A388T	RGS9_ENST00000262406.9_Missense_Mutation_p.A391T|RGS9_ENST00000443584.3_Missense_Mutation_p.A388T	NM_001081955.2	NP_001075424.1	O75916	RGS9_HUMAN	regulator of G-protein signaling 9	391	RGS.				intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway|visual perception	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(8)|liver(2)|lung(12)|ovary(2)|prostate(3)|skin(3)	41						GCTGGACGCCGCACAAACCCA	0.562													A	63200387	G	A	63200387	3	1	341	1	0	0	0	0	1	0	0	0	13402	1087	38	1	1229	1	RGS9	17	63200387	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	27599931	63200387	17994823	48	22388											
FOXK2	3607	broad.mit.edu	37	chr17	80544072	80544072	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatggagaccacagggaagtCaaaggtaggcggaggggaaa	16	3	17	5	1	1	1	1	0	0	1	1	5	1	4	1	7	0	1	1	7	5	1	rs111240743		TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr17:80544072C>G	ENST00000335255.5	+	7	1746	c.1572C>G	c.(1570-1572)gtC>gtG	p.V524V		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	524					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			ACAGGGAAGTCAAAGGTAGGC	0.632													G	80544072	C	G	80544072	2	3	341	1	0	0	0	0	0	0	0	1	6066	813	29	4		4	FOXK2	17	80544072	Silent	SNP	C	TCGA-DH-5143-01A-01D-1468-08	17343685	80544072	651138	49	22389											
CETN1	1068	broad.mit.edu	37	chr18	580651	580651	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggacagggaaggcacGgggaagatcagcttcaatga	13	5	17	6	1	2	2	2	1	0	1	2	6	2	5	0	6	1	2	0	6	3	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:580651G>T	ENST00000327228.3	+	1	285	c.243G>T	c.(241-243)acG>acT	p.T81T		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	81	EF-hand 2.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GGGAAGGCACGGGGAAGATCA	0.537													T	580651	G	T	580651	2	4	341	1	0	0	0	0	0	0	0	1	3304	1103	39	4		4	CETN1	18	580651	Silent	SNP	G	TCGA-DH-5143-01A-01D-1468-08		580651	77496597	50	22390											
NDUFV2	4729	broad.mit.edu	37	chr18	9134225	9134241	+	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	CTTTGACTGAACCACCC	-																															gccagctggaggtcttacctCtttgactgaaccacccaagg																										TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:9134225_9134241delCTTTGACTGAACCACCC	ENST00000400033.1	+	9	824_840	c.707_723delCTTTGACTGAACCACCC	c.(706-723)tctttgactgaaccacccfs	p.SLTEPP236fs	RP11-143J12.2_ENST00000582375.1_RNA|NDUFV2_ENST00000318388.6_Frame_Shift_Del_p.SLTEPP233fs|RP11-21J18.1_ENST00000579126.1_RNA|NDUFV2_ENST00000465096.1_3'UTR			P19404	NDUV2_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa	233					cardiac muscle tissue development|mitochondrial electron transport, NADH to ubiquinone|nervous system development|transport	mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|lung(4)|ovary(1)|stomach(1)	7					NADH(DB00157)	GGTCTTACCTCTTTGACTGAACCACCCAAGGGACCTG	0.346													-	9134241	CTTTGACTGAACCACCC	-	9134225	7	5	341	1	0	1	0	1	0	0	0	0	10376	913	32	0	728	0	NDUFV2	18	9134225	Frame_Shift_Del	DEL	CTTTGACTGAACCACCC	TCGA-DH-5143-01A-01D-1468-08	8553574	9134225	68943023	51	22391											
SPIRE1	56907	broad.mit.edu	37	chr18	12493109	12493109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctctggtgatacaggcCgcagctttctttctgcttta	5	16	8	12	1	4	1	0	1	4	0	5	1	4	1	2	2	3	3	2	2	2	5			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr18:12493109C>T	ENST00000409402.4	-	8	1418	c.1151G>A	c.(1150-1152)cGg>cAg	p.R384Q	SPIRE1_ENST00000383356.2_Missense_Mutation_p.R225Q|SPIRE1_ENST00000410092.3_Missense_Mutation_p.R384Q|SPIRE1_ENST00000453447.2_Missense_Mutation_p.R264Q|SPIRE1_ENST00000464481.1_5'UTR|SPIRE1_ENST00000309836.5_Missense_Mutation_p.R187Q	NM_001128626.1	NP_001122098.1	Q08AE8	SPIR1_HUMAN	spire-type actin nucleation factor 1	384	WH2 2.					cytoskeleton|perinuclear region of cytoplasm	actin binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)	28						TGATACAGGCCGCAGCTTTCT	0.458													T	12493109	C	T	12493109	3	4	341	1	0	0	0	0	1	0	0	0	15167	652	23	1	1159	1	SPIRE1	18	12493109	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08	3358884	12493109	65584139	52	22392											
CALR	811	broad.mit.edu	37	chr19	13050007	13050007	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagattttggcaaattcgttCtcagttccggcaagttctac	9	14	8	10	2	2	1	1	0	2	1	5	1	3	1	1	2	1	5	1	2	3	7			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:13050007C>G	ENST00000316448.5	+	2	224	c.151C>G	c.(151-153)Ctc>Gtc	p.L51V		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	51	N-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAAATTCGTTCTCAGTTCCGG	0.527											OREG0025278	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	13050007	C	G	13050007	3	3	341	1	0	0	0	0	1	0	0	0	2618	913	32	4	157	4	CALR	19	13050007	Missense_Mutation	SNP	C	TCGA-DH-5143-01A-01D-1468-08		13050007	46078976	53	22393											
ZNF675	171392	broad.mit.edu	37	chr19	23837026	23837026	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtttgagaattggttaaAagttctgtcacattcttgac	12	15	9	5	0	3	2	1	2	2	1	3	3	3	2	0	2	0	3	0	2	4	6			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:23837026A>C	ENST00000359788.4	-	4	877	c.709T>G	c.(709-711)Ttt>Gtt	p.F237V	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	237					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AATTGGTTAAAAGTTCTGTCA	0.323													C	23837026	A	C	23837026	3	2	341	1	0	0	0	0	1	0	0	0	18183	14	1	5	1001	5	ZNF675	19	23837026	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08	10787019	23837026	35291957	54	22394											
HNRNPL	3191	broad.mit.edu	37	chr19	39334685	39334685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagtgcaacagccagaaTagatatcagccccattgaga	15	7	9	10	0	2	4	2	1	0	4	2	5	2	4	3	0	4	1	3	0	4	3			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr19:39334685T>C	ENST00000221419.5	-	5	1136	c.770A>G	c.(769-771)tAt>tGt	p.Y257C	HNRNPL_ENST00000600873.1_Missense_Mutation_p.Y124C	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	257	RRM 2.				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			ACAGCCAGAATAGATATCAGC	0.517													C	39334685	T	C	39334685	3	2	341	1	0	0	0	0	1	0	0	0	7325	1406	49	3	1035	3	HNRNPL	19	39334685	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08	15497659	39334685	19794298	55	22395											
ADAMTS5	11096	broad.mit.edu	37	chr21	28327096	28327096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggctgcgtggaggccaTcgtcttcaatcacagcacag	10	8	12	11	2	3	1	2	1	1	0	4	2	3	2	1	3	2	2	1	3	2	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr21:28327096T>C	ENST00000284987.5	-	2	1320	c.1199A>G	c.(1198-1200)gAt>gGt	p.D400G		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	400	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GTGGAGGCCATCGTCTTCAAT	0.517													C	28327096	T	C	28327096	3	2	341	1	0	0	0	0	1	0	0	0	269	1435	50	3	1621	3	ADAMTS5	21	28327096	Missense_Mutation	SNP	T	TCGA-DH-5143-01A-01D-1468-08		28327096	19802799	56	22396											
TRABD	80305	broad.mit.edu	37	chr22	50636413	50636413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcctcgagctgcctcGggcctctgacggtgacggcc	3	6	16	16	6	1	2	0	2	1	0	3	3	1	2	4	4	2	1	4	4	0	0			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chr22:50636413G>A	ENST00000303434.4	+	8	952	c.833G>A	c.(832-834)cGg>cAg	p.R278Q	TRABD_ENST00000395829.1_Missense_Mutation_p.R278Q|TRABD_ENST00000395827.1_Missense_Mutation_p.R278Q|TRABD_ENST00000380909.4_Missense_Mutation_p.R278Q	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	278										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		GAGCTGCCTCGGGCCTCTGAC	0.697													A	50636413	G	A	50636413	3	1	341	1	0	0	0	0	1	0	0	0	16536	1116	39	1	859	1	TRABD	22	50636413	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08		50636413	668153	57	22397											
DIAPH2	1730	broad.mit.edu	37	chrX	96639008	96639008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaaaagttagaacgccAgaagaaaaagaaacaactca	24	3	7	7	1	1	5	1	0	0	5	1	5	1	5	1	0	3	1	1	0	10	1			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:96639008A>T	ENST00000324765.8	+	25	3457	c.3110A>T	c.(3109-3111)cAg>cTg	p.Q1037L	DIAPH2_ENST00000373061.3_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373054.4_Missense_Mutation_p.Q1033L|DIAPH2_ENST00000355827.4_Missense_Mutation_p.Q1037L|DIAPH2_ENST00000373049.4_Missense_Mutation_p.Q1037L			O60879	DIAP2_HUMAN	diaphanous-related formin 2	1037					cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						TTAGAACGCCAGAAGAAAAAG	0.313													T	96639008	A	T	96639008	3	4	341	1	0	0	0	0	1	0	0	0	4558	188	7	5	3208	5	DIAPH2	23	96639008	Missense_Mutation	SNP	A	TCGA-DH-5143-01A-01D-1468-08		96639008	58631552	58	22398											
MID2	11043	broad.mit.edu	37	chrX	107084365	107084365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaaaacatgcatcacctGtgaggtctcctactgtgacc	12	10	8	11	0	2	2	1	2	1	0	3	2	2	2	3	1	3	2	3	1	4	2			TCGA-DH-5143-01A-01D-1468-08	TCGA-DH-5143-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4bbefd2-808c-4646-8bee-3ab3b040b48b	ce04e1e1-0343-4378-b34e-203f88ead2a8	g.chrX:107084365G>A	ENST00000262843.6	+	2	1018	c.470G>A	c.(469-471)tGt>tAt	p.C157Y	MID2_ENST00000443968.2_Missense_Mutation_p.C157Y	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	157						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGCATCACCTGTGAGGTCTCC	0.562													A	107084365	G	A	107084365	3	1	341	1	0	0	0	0	1	0	0	0	9653	1377	48	2	476	2	MID2	23	107084365	Missense_Mutation	SNP	G	TCGA-DH-5143-01A-01D-1468-08	10445357	107084365	48186195	59	22399											
HIVEP3	59269	broad.mit.edu	37	chr1	42048832	42048832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgctgatagtgcaggcgGcagaaggcattgagtggctt	8	9	18	6	1	0	3	0	2	0	1	0	3	0	3	0	5	2	5	0	5	2	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:42048832G>A	ENST00000372584.1	-	3	2651	c.1637C>T	c.(1636-1638)gCc>gTc	p.A546V	HIVEP3_ENST00000247584.5_Missense_Mutation_p.A546V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A546V|HIVEP3_ENST00000429157.2_Missense_Mutation_p.A546V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	546	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				AGTGCAGGCGGCAGAAGGCAT	0.602													A	42048832	G	A	42048832	3	1	342	1	0	0	0	0	1	0	0	0	7243	1203	42	2	5607	2	HIVEP3	1	42048832	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		42048832	207201789	1	22400											
FUBP1	8880	broad.mit.edu	37	chr1	78429848	78429848	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgggtgttgtcccatcatCttcaaaacaaagaaacaaaa	16	10	6	9	1	3	1	2	0	1	1	5	1	4	1	1	1	2	1	1	1	6	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr1:78429848C>T	ENST00000370767.1	-	12	1028		c.e12-1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCATCATCTTCAAAACAA	0.363			"F, N"		oligodendroglioma								T	78429848	C	T	78429848	5	4	342	1	0	0	0	0	0	0	1	0	6144	927	32	2	1030	2	FUBP1	1	78429848	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	36381016	78429848	170820773	2	22401											
PREB	10113	broad.mit.edu	37	chr2	27355105	27355105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgtctcacacctgacatCgaggcaggagacgacttcat	12	8	9	12	2	2	2	2	1	1	1	4	5	2	2	1	2	0	1	1	2	1	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:27355105C>T	ENST00000260643.2	-	6	1172	c.919G>A	c.(919-921)Gat>Aat	p.D307N	PREB_ENST00000406567.3_Intron	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	307					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACCTGACATCGAGGCAGGAG	0.617													T	27355105	C	T	27355105	3	4	342	1	0	0	0	0	1	0	0	0	12556	884	31	1	350	1	PREB	2	27355105	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		27355105	215844268	3	22402											
TMEM131	23505	broad.mit.edu	37	chr2	98426153	98426153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgtattaatggtcttactgGaaaggaaggtggaagaacca	14	10	13	4	0	1	1	0	0	1	1	1	4	1	4	1	5	2	1	1	5	7	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:98426153G>A	ENST00000186436.5	-	19	2281	c.2053C>T	c.(2053-2055)Cca>Tca	p.P685S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	685						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGTCTTACTGGAAAGGAAGGT	0.423													A	98426153	G	A	98426153	3	1	342	1	0	0	0	0	1	0	0	0	16144	1174	41	2	3690	2	TMEM131	2	98426153	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	71071048	98426153	144773220	4	22403											
RIF1	55183	broad.mit.edu	37	chr2	152320343	152320343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagccaagataaggaaaatAgtcatcaaaaaaaggaacga	24	4	8	5	1	2	1	2	0	0	1	2	4	2	3	1	2	2	0	1	2	10	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:152320343A>G	ENST00000243326.5	+	29	4792	c.4309A>G	c.(4309-4311)Agt>Ggt	p.S1437G	RIF1_ENST00000444746.2_Missense_Mutation_p.S1437G|RIF1_ENST00000453091.2_Missense_Mutation_p.S1437G|RIF1_ENST00000428287.2_Missense_Mutation_p.S1437G|RIF1_ENST00000430328.2_Missense_Mutation_p.S1437G			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TAAGGAAAATAGTCATCAAAA	0.383													G	152320343	A	G	152320343	3	3	342	1	0	0	0	0	1	0	0	0	13448	420	15	3	4423	3	RIF1	2	152320343	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	53894190	152320343	90879030	5	22404											
ZSWIM2	151112	broad.mit.edu	37	chr2	187712478	187712478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacaaagttcccctcctttCggaaatgtggaacagttaca	12	12	7	10	1	0	0	0	0	0	0	3	2	2	2	3	2	3	2	3	2	5	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:187712478C>T	ENST00000295131.2	-	2	249	c.210G>A	c.(208-210)ccG>ccA	p.P70P		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	70					apoptosis		zinc ion binding	p.P70Q(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCCCTCCTTTCGGAAATGTGG	0.353													T	187712478	C	T	187712478	2	4	342	1	0	0	0	0	0	0	0	1	18338	871	31	1		1	ZSWIM2	2	187712478	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08	35392135	187712478	55486895	6	22405											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	342	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	21400634	209113112	34086261	7	22406											
C2orf57	165100	broad.mit.edu	37	chr2	232458005	232458005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacaggcaggttcaagacGcaaggacaagtcagagtcta	14	5	14	8	1	3	2	2	0	1	2	3	4	3	4	0	4	0	3	0	4	4	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr2:232458005G>A	ENST00000313965.2	+	1	431	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	115										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		GGTTCAAGACGCAAGGACAAG	0.517													A	232458005	G	A	232458005	3	1	342	1	0	0	0	0	1	0	0	0	2199	1087	38	1	345	1	C2orf57	2	232458005	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	23344893	232458005	10741368	8	22407											
MKRN2	23609	broad.mit.edu	37	chr3	12613687	12613687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctggatgccatcaggAgtggccttgatgacgtggag	8	9	14	10	1	1	2	1	2	0	0	1	5	1	5	4	4	2	0	4	4	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:12613687A>G	ENST00000170447.7	+	4	594	c.457A>G	c.(457-459)Agt>Ggt	p.S153G	MKRN2_ENST00000448482.1_Missense_Mutation_p.S151G|MKRN2_ENST00000411987.1_Missense_Mutation_p.S110G	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	153						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TGCCATCAGGAGTGGCCTTGA	0.627													G	12613687	A	G	12613687	3	3	342	1	0	0	0	0	1	0	0	0	9682	304	11	3	471	3	MKRN2	3	12613687	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08		12613687	185408743	9	22408											
TTC21A	199223	broad.mit.edu	37	chr3	39170636	39170636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagagaaccgcatcaccaTtgccaacgtggacttggtcc	12	7	10	12	2	1	2	1	0	0	2	2	4	2	3	4	2	3	1	4	2	3	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:39170636T>C	ENST00000301819.6	+	15	2171	c.1994T>C	c.(1993-1995)aTt>aCt	p.I665T	TTC21A_ENST00000440121.1_Missense_Mutation_p.I616T|TTC21A_ENST00000431162.2_Missense_Mutation_p.I664T	NM_145755.2	NP_665698.2	Q8NDW8	TT21A_HUMAN	tetratricopeptide repeat domain 21A	664							binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(23)|ovary(1)|prostate(1)|skin(3)	50				KIRC - Kidney renal clear cell carcinoma(284;0.0588)|Kidney(284;0.0738)		CGCATCACCATTGCCAACGTG	0.522													C	39170636	T	C	39170636	3	2	342	1	0	0	0	0	1	0	0	0	16789	1493	52	3	2052	3	TTC21A	3	39170636	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	26556949	39170636	158851794	10	22409											
NBEAL2	23218	broad.mit.edu	37	chr3	47041457	47041457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcaagatgtgctgaccCggctatatgtcctggaggct	7	10	14	10	1	0	2	0	1	0	1	1	3	1	3	2	4	1	5	2	4	3	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr3:47041457C>T	ENST00000450053.3	+	27	4047	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1290							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTGCTGACCCGGCTATATGT	0.637													T	47041457	C	T	47041457	3	4	342	1	0	0	0	0	1	0	0	0	10265	643	23	1	3974	1	NBEAL2	3	47041457	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7870821	47041457	150980973	11	22410											
PI4K2B	55300	broad.mit.edu	37	chr4	25258211	25258211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactataatgcgattgaccGtgcaaaatcaagaggcaaaa	18	8	8	7	2	1	2	1	1	0	1	1	3	1	2	1	1	3	2	1	1	8	4	rs115874249	by1000genomes	TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:25258211G>A	ENST00000264864.6	+	4	860	c.671G>A	c.(670-672)cGt>cAt	p.R224H	PI4K2B_ENST00000512921.1_Missense_Mutation_p.R128H	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	224	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				GCGATTGACCGTGCAAAATCA	0.358													A	25258211	G	A	25258211	3	1	342	1	0	0	0	0	1	0	0	0	11949	1145	40	1	685	1	PI4K2B	4	25258211	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		25258211	165896065	12	22411											
ALPK1	80216	broad.mit.edu	37	chr4	113356325	113356326	+	Frame_Shift_Ins	INS	-	-	A																															gctcttttgttaaaatattcINSaaaaaaatctgaactgtgga																										TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:113356325_113356326insA	ENST00000458497.1	+	12	3335_3336	c.3056_3057insA	c.(3055-3060)tcaaaafs	p.SK1019fs	ALPK1_ENST00000504176.2_Frame_Shift_Ins_p.SK941fs|ALPK1_ENST00000177648.9_Frame_Shift_Ins_p.SK1019fs	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	1019	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		TTAAAATATTCAAAAAAATCTG	0.356													A	113356326	-	A	113356325	7	5	342	1	0	1	1	0	0	0	0	0	544	838	29	0	3094	0	ALPK1	4	113356325	Frame_Shift_Ins	INS	-	TCGA-DH-5144-01A-01D-1468-08	88098114	113356325	77797951	13	22412											
BBS7	55212	broad.mit.edu	37	chr4	122776708	122776708	+	Frame_Shift_Del	DEL	A	A	-																															acttcaactgcatacatcacAtcagatccctgaaggagaag																										TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr4:122776708delA	ENST00000264499.4	-	6	720	c.537delT	c.(535-537)gatfs	p.D179fs	BBS7_ENST00000506636.1_Frame_Shift_Del_p.D179fs	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	179					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						CATACATCACATCAGATCCCT	0.348									Bardet-Biedl syndrome				-	122776708	A	-	122776708	7	5	342	1	0	1	0	1	0	0	0	0	1346	214	8	0	1671	0	BBS7	4	122776708	Frame_Shift_Del	DEL	A	TCGA-DH-5144-01A-01D-1468-08	9420383	122776708	68377568	14	22413											
FBXL7	23194	broad.mit.edu	37	chr5	15937211	15937211	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctgaatgtccaggactgCgaggtctccgtggaggccct	7	8	14	12	3	1	1	0	1	1	0	3	4	2	3	3	4	1	1	3	4	1	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:15937211C>T	ENST00000504595.1	+	4	1873	c.1392C>T	c.(1390-1392)tgC>tgT	p.C464C	FBXL7_ENST00000510662.1_Silent_p.C417C|FBXL7_ENST00000329673.7_Silent_p.C452C	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	464					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						TCCAGGACTGCGAGGTCTCCG	0.607													T	15937211	C	T	15937211	2	4	342	1	0	0	0	0	0	0	0	1	5773	776	27	1		1	FBXL7	5	15937211	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		15937211	164978049	15	22414											
MTX3	345778	broad.mit.edu	37	chr5	79282781	79282781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagcttacctccaagaCtaagcctaaaataactgctc	14	8	6	13	0	0	1	0	0	0	1	2	2	1	1	4	0	6	2	4	0	6	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr5:79282781C>T	ENST00000512560.1	-	6	667	c.548G>A	c.(547-549)aGt>aAt	p.S183N	MTX3_ENST00000509852.1_Missense_Mutation_p.S244N|MTX3_ENST00000512528.1_Missense_Mutation_p.S244N	NM_001167741.1	NP_001161213.1	Q5HYI7	MTX3_HUMAN	metaxin 3	244					protein targeting to mitochondrion	mitochondrial outer membrane				endometrium(1)|large_intestine(3)|lung(2)|urinary_tract(1)	7		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.63e-45)|Epithelial(54;2.9e-40)|all cancers(79;4.68e-35)		ACCTCCAAGACTAAGCCTAAA	0.363													T	79282781	C	T	79282781	3	4	342	1	0	0	0	0	1	0	0	0	10045	565	20	2	219	2	MTX3	5	79282781	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	63345570	79282781	101632479	16	22415											
VPS52	6293	broad.mit.edu	37	chr6	33235064	33235064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcctagggtgaaaatggtGttcctgctgcggagcgatgg	7	11	16	7	2	0	1	0	1	0	0	2	3	2	2	2	4	3	3	2	4	3	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:33235064G>A	ENST00000445902.2	-	11	1244	c.1026C>T	c.(1024-1026)aaC>aaT	p.N342N	VPS52_ENST00000482399.1_3'UTR|VPS52_ENST00000478934.1_Intron|VPS52_ENST00000436044.2_Silent_p.N217N	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	342					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAAAATGGTGTTCCTGCTGC	0.562													A	33235064	G	A	33235064	2	1	342	1	0	0	0	0	0	0	0	1	17316	1368	48	2		2	VPS52	6	33235064	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08		33235064	137880003	17	22416											
TEAD3	7005	broad.mit.edu	37	chr6	35446212	35446212	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgggacccatgtaccCgcgaggaagtggagaagacg	10	5	14	12	3	0	2	0	0	0	2	1	6	1	4	4	3	1	1	4	3	3	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:35446212C>T	ENST00000338863.7	-	6	706	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	TEAD3_ENST00000402886.3_Splice_Site_p.R100Q	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	160	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						CCCATGTACCCGCGAGGAAGT	0.617													T	35446212	C	T	35446212	5	4	342	1	0	0	0	0	0	0	1	0	15840	666	23	1	860	1	TEAD3	6	35446212	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	2211148	35446212	135668855	18	22417											
MRPL2	51069	broad.mit.edu	37	chr6	43023893	43023893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctgtggcgatgatccagCgtttccggctgcccccagca	5	11	11	14	3	1	1	0	1	1	0	3	2	3	1	4	2	3	3	4	2	0	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43023893C>T	ENST00000388752.3	-	4	870	c.446G>A	c.(445-447)cGc>cAc	p.R149H	MRPL2_ENST00000489623.1_Intron|MRPL2_ENST00000230413.5_Missense_Mutation_p.R149H	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	149					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GATGATCCAGCGTTTCCGGCT	0.537													T	43023893	C	T	43023893	3	4	342	1	0	0	0	0	1	0	0	0	9861	768	27	1	487	1	MRPL2	6	43023893	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7577681	43023893	128091174	19	22418											
ABCC10	89845	broad.mit.edu	37	chr6	43413455	43413455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcctcctggccaacgCggcaggcctgctggggctcc	6	6	12	17	2	0	0	0	0	0	0	3	0	3	0	5	5	3	3	5	5	2	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:43413455C>T	ENST00000244533.3	+	13	3424	c.3065C>T	c.(3064-3066)gCg>gTg	p.A1022V	ABCC10_ENST00000372530.4_Missense_Mutation_p.A1050V	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1050	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGCCAACGCGGCAGGCCTG	0.642													T	43413455	C	T	43413455	3	4	342	1	0	0	0	0	1	0	0	0	50	768	27	1	3115	1	ABCC10	6	43413455	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	389562	43413455	127701612	20	22419											
ZBTB24	9841	broad.mit.edu	37	chr6	109802897	109802897	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttttaagaactgagcagtAgccaggatttgttctgtact	11	14	9	7	0	1	2	0	1	1	1	1	3	1	3	1	1	4	4	1	1	4	6			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr6:109802897A>T	ENST00000230122.3	-	2	500	c.333T>A	c.(331-333)gcT>gcA	p.A111A		NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	111	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		ACTGAGCAGTAGCCAGGATTT	0.438													T	109802897	A	T	109802897	2	4	342	1	0	0	0	0	0	0	0	1	17632	407	15	5		5	ZBTB24	6	109802897	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08	66389442	109802897	61312170	21	22420											
ZNF425	155054	broad.mit.edu	37	chr7	148801188	148801188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgagctgagactgatgcGtgtaggtcttgtcacactca	8	11	13	9	2	3	3	2	3	1	1	3	4	3	3	0	2	2	2	0	2	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr7:148801188G>A	ENST00000378061.2	-	4	1907	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	592					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			AGACTGATGCGTGTAGGTCTT	0.577													A	148801188	G	A	148801188	3	1	342	1	0	0	0	0	1	0	0	0	18000	1145	40	1	487	1	ZNF425	7	148801188	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		148801188	10337475	22	22421											
DPYSL2	1808	broad.mit.edu	37	chr8	26484191	26484191	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcttccagctaacggattgCcaggtaagaaagtcggcttt	10	10	11	10	3	0	1	0	0	0	1	2	2	1	2	2	3	3	4	2	3	3	5			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr8:26484191C>T	ENST00000311151.5	+	5	949	c.537C>T	c.(535-537)tgC>tgT	p.C179C	DPYSL2_ENST00000521913.1_Silent_p.C143C|DPYSL2_ENST00000523027.1_Silent_p.C143C	NM_001386.5	NP_001377.1	Q16555	DPYL2_HUMAN	dihydropyrimidinase-like 2	179					axon guidance|pyrimidine base catabolic process|signal transduction	cytosol	dihydropyrimidinase activity|protein binding			breast(1)|endometrium(5)|large_intestine(8)|lung(3)|prostate(1)|skin(1)|stomach(1)	20		all_cancers(63;0.121)|Ovarian(32;2.68e-05)|all_epithelial(46;0.116)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;3.33e-10)|Colorectal(74;0.183)		TAACGGATTGCCAGGTAAGAA	0.463													T	26484191	C	T	26484191	2	4	342	1	0	0	0	0	0	0	0	1	4786	747	26	2		2	DPYSL2	8	26484191	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		26484191	119879831	23	22422											
NOTCH1	4851	broad.mit.edu	37	chr9	139418369	139418369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgtcccggcgttcttgCagggggtgctgaggcacggg	4	8	19	10	3	1	1	0	1	1	0	2	1	2	1	1	6	2	5	1	6	0	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr9:139418369C>T	ENST00000277541.6	-	3	278	c.203G>A	c.(202-204)tGc>tAc	p.C68Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	68	EGF-like 2.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCGTTCTTGCAGGGGGTGCT	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139418369	C	T	139418369	3	4	342	1	0	0	0	0	1	0	0	0	10623	710	25	2	7592	2	NOTCH1	9	139418369	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		139418369	1795062	24	22423											
ZMYND11	10771	broad.mit.edu	37	chr10	285431	285431	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttcaaagctgatgcccaAttgcttctccacaataccgt	11	11	7	12	1	2	1	1	1	1	0	3	2	2	1	3	0	4	3	3	0	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:285431A>G	ENST00000397962.3	+	7	1091	c.663A>G	c.(661-663)caA>caG	p.Q221Q	ZMYND11_ENST00000381584.1_Silent_p.Q204Q|ZMYND11_ENST00000381591.1_Silent_p.Q221Q|ZMYND11_ENST00000402736.1_Silent_p.Q190Q|ZMYND11_ENST00000545619.1_Silent_p.Q127Q|ZMYND11_ENST00000403354.1_Silent_p.Q167Q|ZMYND11_ENST00000509513.2_Silent_p.Q221Q|ZMYND11_ENST00000381607.4_Silent_p.Q127Q|ZMYND11_ENST00000535374.1_Intron|ZMYND11_ENST00000381604.4_Silent_p.Q181Q|ZMYND11_ENST00000558098.2_Silent_p.Q221Q|ZMYND11_ENST00000381602.4_Silent_p.Q181Q|ZMYND11_ENST00000397959.3_Silent_p.Q136Q|ZMYND11_ENST00000309776.4_Silent_p.Q181Q|ZMYND11_ENST00000602682.1_Silent_p.Q136Q			Q15326	ZMY11_HUMAN	zinc finger, MYND-type containing 11	181					cell cycle|cell proliferation|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	24		all_cancers(4;1.32e-05)|all_lung(4;3.67e-05)|Lung NSC(4;0.000301)|all_epithelial(10;0.000416)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.132)	Epithelial(11;0.00289)|all cancers(11;0.0108)|Lung(33;0.0689)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CTGATGCCCAATTGCTTCTCC	0.348													G	285431	A	G	285431	2	3	342	1	0	0	0	0	0	0	0	1	17807	98	4	3		3	ZMYND11	10	285431	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08		285431	135249316	25	22424											
MRPL43	84545	broad.mit.edu	37	chr10	102741298	102741298	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatcggatgactgaactgaTatctgaagaaagaacaaaag	19	7	10	5	1	1	7	0	4	1	3	2	8	1	8	0	1	2	0	0	1	7	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr10:102741298T>A	ENST00000342071.1	-	6	729	c.658A>T	c.(658-660)Atc>Ttc	p.I220F	SEMA4G_ENST00000370250.4_Intron|MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000318325.2_Intron|MRPL43_ENST00000299179.5_Silent_p.I177I|SEMA4G_ENST00000517724.1_Intron	NM_176794.1	NP_789764.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	0					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		ACTGAACTGATATCTGAAGAA	0.398													A	102741298	T	A	102741298	3	1	342	1	0	0	0	0	1	0	0	0	9883	1406	49	5	205	5	MRPL43	10	102741298	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	102455867	102741298	32793449	26	22425											
LRRC4C	57689	broad.mit.edu	37	chr11	40136683	40136683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactgttccatttggagtaAtccaagatacagatgtcagg	12	12	10	7	0	1	3	1	1	0	2	3	4	3	4	2	2	1	2	2	2	3	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:40136683A>G	ENST00000278198.2	-	2	3123	c.1160T>C	c.(1159-1161)aTt>aCt	p.I387T	LRRC4C_ENST00000527150.1_Missense_Mutation_p.I387T|LRRC4C_ENST00000528697.1_Missense_Mutation_p.I387T|LRRC4C_ENST00000530763.1_Missense_Mutation_p.I387T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	387	Ig-like C2-type.				regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				ATTTGGAGTAATCCAAGATAC	0.493													G	40136683	A	G	40136683	3	3	342	1	0	0	0	0	1	0	0	0	9078	101	4	3	766	3	LRRC4C	11	40136683	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08		40136683	94869833	27	22426											
OR5D18	219438	broad.mit.edu	37	chr11	55587721	55587721	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctattctttcttgccaccTttaatgaaatcagcacacta	11	15	4	11	0	3	1	1	1	2	0	3	1	3	1	2	0	3	2	2	0	4	7			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:55587721T>C	ENST00000333976.4	+	1	636	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	206					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCTTGCCACCTTTAATGAAAT	0.443													C	55587721	T	C	55587721	3	2	342	1	0	0	0	0	1	0	0	0	11233	1609	56	3	618	3	OR5D18	11	55587721	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	15451038	55587721	79418795	28	22427											
CFL1	1072	broad.mit.edu	37	chr11	65623202	65623202	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcgcagactcgggggccCtggacagaaacacgcgtcag	9	3	17	12	4	1	2	1	0	0	2	2	3	1	3	1	5	1	1	1	5	1	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:65623202C>T	ENST00000525451.2	-	4	1027		c.e4-1		CFL1_ENST00000531407.1_Splice_Site|CFL1_ENST00000524553.1_Splice_Site|CFL1_ENST00000308162.5_Splice_Site|CFL1_ENST00000534769.1_Splice_Site|CFL1_ENST00000527344.1_Splice_Site|CFL1_ENST00000531413.1_Splice_Site			P23528	COF1_HUMAN	cofilin 1 (non-muscle)						actin cytoskeleton organization|anti-apoptosis|axon guidance|platelet activation|platelet degranulation|response to virus|Rho protein signal transduction	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)	6				READ - Rectum adenocarcinoma(159;0.169)		CTCGGGGGCCCTGGACAGAAA	0.542													T	65623202	C	T	65623202	5	4	342	1	0	0	0	0	0	0	1	0	3320	695	24	2	197	2	CFL1	11	65623202	Splice_Site	SNP	C	TCGA-DH-5144-01A-01D-1468-08	10035481	65623202	69383314	29	22428											
NLRX1	79671	broad.mit.edu	37	chr11	119045448	119045448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctattgctggctcgtttgtgCcaccttgcacttcctgcatg	4	15	9	13	1	0	0	0	0	0	0	2	0	1	0	3	1	4	5	3	1	1	5			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr11:119045448C>T	ENST00000409109.1	+	6	1723	c.1136C>T	c.(1135-1137)gCc>gTc	p.A379V	NLRX1_ENST00000525863.1_Missense_Mutation_p.A379V|NLRX1_ENST00000292199.2_Missense_Mutation_p.A379V|NLRX1_ENST00000409991.1_Missense_Mutation_p.A379V|NLRX1_ENST00000409265.4_Missense_Mutation_p.A379V	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	379	NACHT.|Required for interaction with MAVS.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTCGTTTGTGCCACCTTGCAC	0.617													T	119045448	C	T	119045448	3	4	342	1	0	0	0	0	1	0	0	0	10561	739	26	2	1154	2	NLRX1	11	119045448	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	53422246	119045448	15961068	30	22429											
ARNTL2	56938	broad.mit.edu	37	chr12	27542188	27542188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtaaaggaacaactttcttCttttgatatttcaccaagag	14	14	6	7	0	3	2	1	1	2	1	3	3	3	3	1	1	2	1	1	1	6	7			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:27542188C>T	ENST00000544915.1	+	7	851	c.632C>T	c.(631-633)tCt>tTt	p.S211F	ARNTL2_ENST00000261178.5_Missense_Mutation_p.S197F|ARNTL2_ENST00000546179.1_Missense_Mutation_p.S208F|ARNTL2_ENST00000266503.5_Missense_Mutation_p.S245F|ARNTL2_ENST00000311001.5_Missense_Mutation_p.S231F|ARNTL2_ENST00000395901.2_Missense_Mutation_p.S208F|ARNTL2_ENST00000542388.1_Missense_Mutation_p.S160F	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	245	PAS 1.				circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CAACTTTCTTCTTTTGATATT	0.323													T	27542188	C	T	27542188	3	4	342	1	0	0	0	0	1	0	0	0	973	913	32	2	764	2	ARNTL2	12	27542188	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		27542188	106309707	31	22430											
KRT86	3892	broad.mit.edu	37	chr12	52698737	52698737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggactgcgcctacctcCgcaaatcagacctggaggcc	9	7	11	14	2	1	1	1	0	0	1	2	3	2	3	5	3	2	1	5	3	2	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:52698737C>T	ENST00000293525.5	+	4	713	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	KRT86_ENST00000544024.1_Missense_Mutation_p.R221C|KRT86_ENST00000423955.2_Missense_Mutation_p.R221C	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	221	Coil 1B.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGCCTACCTCCGCAAATCAGA	0.597													T	52698737	C	T	52698737	3	4	342	1	0	0	0	0	1	0	0	0	8558	652	23	1	675	1	KRT86	12	52698737	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	25156549	52698737	81153158	32	22431											
ESPL1	9700	broad.mit.edu	37	chr12	53680351	53680351	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgggccctcacaaaactAggtggcctcagctgctgtac	9	10	10	12	0	2	0	2	0	0	0	2	0	2	0	2	3	4	3	2	3	4	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:53680351A>G	ENST00000257934.4	+	18	3922	c.3831A>G	c.(3829-3831)ctA>ctG	p.L1277L	ESPL1_ENST00000552462.1_Silent_p.L1277L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1277					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCACAAAACTAGGTGGCCTCA	0.542													G	53680351	A	G	53680351	2	3	342	1	0	0	0	0	0	0	0	1	5294	407	15	3		3	ESPL1	12	53680351	Silent	SNP	A	TCGA-DH-5144-01A-01D-1468-08	981614	53680351	80171544	33	22432											
SETD8	387893	broad.mit.edu	37	chr12	123875277	123875277	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaactcagttacacAtcacgaagtcaaatgccagg	16	6	10	9	1	3	1	3	0	0	1	3	4	3	2	1	2	3	1	1	2	5	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr12:123875277A>G	ENST00000402868.3	+	3	659	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SETD8_ENST00000330479.4_Missense_Mutation_p.H78R|SETD8_ENST00000478781.2_3'UTR			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	119					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		TCAGTTACACATCACGAAGTC	0.483													G	123875277	A	G	123875277	3	3	342	1	0	0	0	0	1	0	0	0	14230	217	8	3	243	3	SETD8	12	123875277	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	70194926	123875277	9976618	34	22433											
CTSG	1511	broad.mit.edu	37	chr14	25043477	25043477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccttccgttcccgccGgtcccccacacaaatctgcc	6	7	8	20	3	1	0	0	0	1	0	4	0	4	0	7	2	2	2	7	2	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:25043477G>A	ENST00000216336.2	-	4	604	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	190	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CGTTCCCGCCGGTCCCCCACA	0.617													A	25043477	G	A	25043477	3	1	342	1	0	0	0	0	1	0	0	0	4068	1115	39	1	207	1	CTSG	14	25043477	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		25043477	82306063	35	22434											
NID2	22795	broad.mit.edu	37	chr14	52477708	52477708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatccaggacactgtccGtccagtacattgttctgcgg	7	13	9	12	2	2	0	0	0	2	0	5	1	5	1	3	2	2	2	3	2	2	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:52477708G>A	ENST00000216286.5	-	18	3607	c.3608C>T	c.(3607-3609)aCg>aTg	p.T1203M	NID2_ENST00000541773.1_Missense_Mutation_p.T1102M	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	1203						basement membrane	calcium ion binding|collagen binding	p.T1203M(1)		NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GACACTGTCCGTCCAGTACAT	0.517													A	52477708	G	A	52477708	3	1	342	1	0	0	0	0	1	0	0	0	10491	1145	40	1	539	1	NID2	14	52477708	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	27434231	52477708	54871832	36	22435											
EXOC5	10640	broad.mit.edu	37	chr14	57684716	57684716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgcctatcaatgccagtatCcaatttcatctccatttgtt	9	17	4	11	0	3	0	2	0	1	0	5	0	4	0	4	0	2	2	4	0	4	6			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:57684716C>T	ENST00000413566.2	-	15	1956	c.1597G>A	c.(1597-1599)Gat>Aat	p.D533N	EXOC5_ENST00000340918.7_Missense_Mutation_p.D468N	NM_006544.3	NP_006535.1	O00471	EXOC5_HUMAN	exocyst complex component 5	533					exocytosis|post-Golgi vesicle-mediated transport|protein transport|vesicle docking	cytoplasm				breast(3)|endometrium(1)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCCAGTATCCAATTTCATC	0.294													T	57684716	C	T	57684716	3	4	342	1	0	0	0	0	1	0	0	0	5348	855	30	2	545	2	EXOC5	14	57684716	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	5207008	57684716	49664824	37	22436											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	6	13	14	8	1	1	0	0	0	1	0	1	2	1	2	2	4	1	1	2	4	3	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													T	65544747	C	T	65544747	3	4	342	1	0	0	0	0	1	0	0	0	9414	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	7860031	65544747	41804793	38	22437											
ADAM20	8748	broad.mit.edu	37	chr14	70989595	70989595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgacagatgaaccataCtggcacacttcttacggatg	11	11	9	10	1	1	3	0	2	1	1	1	4	1	4	1	2	3	1	1	2	3	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr14:70989595C>T	ENST00000256389.3	-	2	2274	c.2030G>A	c.(2029-2031)aGt>aAt	p.S677N	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	627					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ATGAACCATACTGGCACACTT	0.463													T	70989595	C	T	70989595	3	4	342	1	0	0	0	0	1	0	0	0	242	565	20	2	304	2	ADAM20	14	70989595	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	5444848	70989595	36359945	39	22438											
DYX1C1	161582	broad.mit.edu	37	chr15	55731774	55731774	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgcctcagcttgtttgtgTagccactagaatgagaaaga	11	11	11	8	1	1	3	1	1	0	3	1	4	1	3	2	0	3	3	2	0	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:55731774T>C	ENST00000321149.3	-	7	1156	c.789A>G	c.(787-789)ctA>ctG	p.L263L	DYX1C1_ENST00000348518.3_Silent_p.L263L|DYX1C1_ENST00000457155.2_Silent_p.L263L|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000380679.1_Silent_p.L263L|DYX1C1_ENST00000448430.2_Silent_p.L263L	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	263					neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		CTTGTTTGTGTAGCCACTAGA	0.343													C	55731774	T	C	55731774	2	2	342	1	0	0	0	0	0	0	0	1	4901	1625	57	3		3	DYX1C1	15	55731774	Silent	SNP	T	TCGA-DH-5144-01A-01D-1468-08		55731774	46799618	40	22439											
TEX9	374618	broad.mit.edu	37	chr15	56686922	56686922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagattttatgagacagCagcgaacaattaatatgcaa	19	9	8	5	1	0	3	0	1	0	3	0	5	0	3	0	0	4	2	0	0	8	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr15:56686922C>G	ENST00000558083.2	+	8	823	c.493C>G	c.(493-495)Cag>Gag	p.Q165E	TEX9_ENST00000537232.1_Missense_Mutation_p.Q165E|TEX9_ENST00000561221.2_Missense_Mutation_p.Q240E|RP11-48G14.2_ENST00000564401.1_lincRNA|TEX9_ENST00000352903.2_Missense_Mutation_p.Q240E|TEX9_ENST00000560582.1_5'UTR			Q8N6V9	TEX9_HUMAN	testis expressed 9	240										cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		TATGAGACAGCAGCGAACAAT	0.284													G	56686922	C	G	56686922	3	3	342	1	0	0	0	0	1	0	0	0	15884	711	25	4	752	4	TEX9	15	56686922	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	955148	56686922	45844470	41	22440											
CNOT1	23019	broad.mit.edu	37	chr16	58622799	58622799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtctgcctcaggaccgtgCcgattcacaatctaaaatga	11	10	8	12	2	4	1	2	1	2	0	4	3	4	2	3	1	2	0	3	1	3	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr16:58622799C>T	ENST00000317147.5	-	3	446	c.114G>A	c.(112-114)cgG>cgA	p.R38R	CNOT1_ENST00000569240.1_Silent_p.R38R|CNOT1_ENST00000441024.2_Silent_p.R38R	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	38					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.R38R(2)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CAGGACCGTGCCGATTCACAA	0.373													T	58622799	C	T	58622799	2	4	342	1	0	0	0	0	0	0	0	1	3648	726	26	2		2	CNOT1	16	58622799	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08		58622799	31731954	42	22441											
KRT14	3861	broad.mit.edu	37	chr17	39739491	39739491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccaagactcactgggCgtcctcgccctccagcaggc	7	5	13	16	2	1	1	1	0	0	1	4	2	3	1	4	3	1	1	4	3	1	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:39739491C>T	ENST00000167586.6	-	6	1356	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T		NM_000526.4	NP_000517	P02533	K1C14_HUMAN	keratin 14	424	Tail.				epidermis development|hemidesmosome assembly|intermediate filament bundle assembly	cytosol|keratin filament|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(3)|lung(7)|ovary(1)|prostate(5)|skin(1)|stomach(1)	25		Breast(137;0.000307)				ACTCACTGGGCGTCCTCGCCC	0.607													T	39739491	C	T	39739491	3	4	342	1	0	0	0	0	1	0	0	0	8509	768	27	1	160	1	KRT14	17	39739491	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		39739491	41455719	43	22442											
HEATR6	63897	broad.mit.edu	37	chr17	58133572	58133572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggcttgagtcattgaaaaGtagccccttgccagaagagt	12	10	11	8	0	1	4	1	2	0	2	1	4	1	4	3	1	2	2	3	1	5	5			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr17:58133572G>A	ENST00000184956.6	-	13	2122	c.2106C>T	c.(2104-2106)taC>taT	p.Y702Y	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	702							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TCATTGAAAAGTAGCCCCTTG	0.453													A	58133572	G	A	58133572	2	1	342	1	0	0	0	0	0	0	0	1	7088	1024	36	2		2	HEATR6	17	58133572	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	18394081	58133572	23061638	44	22443											
AZU1	566	broad.mit.edu	37	chr19	831737	831737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgggggcacccccctcGtctgcgagggcctggcccac	4	4	16	17	3	1	0	0	0	1	0	2	2	1	1	5	5	1	1	5	5	0	0			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:831737G>A	ENST00000233997.2	+	5	637	c.616G>A	c.(616-618)Gtc>Atc	p.V206I		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	206	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CACCCCCCTCGTCTGCGAGGG	0.706													A	831737	G	A	831737	3	1	342	1	0	0	0	0	1	0	0	0	1248	1145	40	1	634	1	AZU1	19	831737	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08		831737	58297246	45	22444											
CLEC4M	10332	broad.mit.edu	37	chr19	7830088	7830088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgtcttggccatggcGccctggtgctgcaactcctc	4	10	13	14	1	1	0	0	0	1	0	3	0	2	0	3	4	3	2	3	4	1	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:7830088G>A	ENST00000327325.5	+	3	266	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	CLEC4M_ENST00000596707.1_Intron|CLEC4M_ENST00000359059.5_Intron|CLEC4M_ENST00000248228.4_Missense_Mutation_p.A50T|CLEC4M_ENST00000394122.2_Missense_Mutation_p.A42T|CLEC4M_ENST00000596363.1_Missense_Mutation_p.A22T|CLEC4M_ENST00000334806.5_Missense_Mutation_p.A22T|CLEC4M_ENST00000595496.1_Intron|CLEC4M_ENST00000357361.2_Missense_Mutation_p.A50T|CLEC4M_ENST00000597522.1_Missense_Mutation_p.A50T	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	50					cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding	p.A50P(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						TGGCCATGGCGCCCTGGTGCT	0.632													A	7830088	G	A	7830088	3	1	342	1	0	0	0	0	1	0	0	0	3549	1087	38	1	158	1	CLEC4M	19	7830088	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	6998351	7830088	51298895	46	22445											
ZNF506	440515	broad.mit.edu	37	chr19	19906098	19906098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acattcttcacatttatagcGtttctctccagcatcaattt	10	17	3	11	1	4	0	2	0	2	0	6	0	5	0	1	0	2	2	1	0	3	7			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:19906098G>A	ENST00000443905.2	-	4	745	c.598C>T	c.(598-600)Cgc>Tgc	p.R200C	ZNF506_ENST00000450683.2_Missense_Mutation_p.R168C|CTC-559E9.6_ENST00000589657.1_RNA|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000540806.2_Missense_Mutation_p.R200C|CTC-559E9.6_ENST00000591884.1_RNA|ZNF506_ENST00000587461.1_Intron			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						CATTTATAGCGTTTCTCTCCA	0.338													A	19906098	G	A	19906098	3	1	342	1	0	0	0	0	1	0	0	0	18053	1145	40	1	740	1	ZNF506	19	19906098	Missense_Mutation	SNP	G	TCGA-DH-5144-01A-01D-1468-08	12076010	19906098	39222885	47	22446											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								T	42799059	C	T	42799059	3	4	342	1	0	0	0	0	1	0	0	0	3454	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	22892961	42799059	16329924	48	22447											
KIF16B	55614	broad.mit.edu	37	chr20	16360615	16360615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctctcctcttcaaattTttccttctccgcaagtaaat	9	15	3	14	1	4	0	1	0	3	0	7	0	5	0	4	0	1	2	4	0	4	5			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr20:16360615T>C	ENST00000354981.2	-	19	2189	c.2032A>G	c.(2032-2034)Aaa>Gaa	p.K678E	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.K678E|KIF16B_ENST00000408042.1_Missense_Mutation_p.K678E	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	678	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCTTCAAATTTTTCCTTCTCC	0.498													C	16360615	T	C	16360615	3	2	342	1	0	0	0	0	1	0	0	0	8336	1850	64	3	1953	3	KIF16B	20	16360615	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08		16360615	46664905	49	22448											
SMC1B	27127	broad.mit.edu	37	chr22	45768073	45768073	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcttcttcttaatcatctCtagttcattttgtgaatatt	8	21	5	7	0	5	1	2	1	3	0	6	1	5	1	0	0	1	2	0	0	4	9			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chr22:45768073C>A	ENST00000357450.4	-	13	2157	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	SMC1B_ENST00000404354.3_Nonsense_Mutation_p.E720*	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	720					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTAATCATCTCTAGTTCATTT	0.348													A	45768073	C	A	45768073	4	1	342	1	0	0	0	0	0	1	0	0	14876	922	32	4	1601	4	SMC1B	22	45768073	Nonsense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08		45768073	5536493	50	22449											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	38079978	GCA	-	38079976	7	5	342	1	0	1	0	1	0	0	0	0	15260	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-DH-5144-01A-01D-1468-08		38079976	117190584	51	22450											
DLG3	1741	broad.mit.edu	37	chrX	69670626	69670626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtacgctccccctgactaCgccagcagtacgtactcatc	9	9	7	16	3	1	1	1	1	0	0	3	1	2	1	3	0	5	5	3	0	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:69670626C>T	ENST00000194900.4	+	7	1373	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	DLG3_ENST00000374360.3_Silent_p.Y326Y			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	326					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.Y326Y(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					CCCCTGACTACGCCAGCAGTA	0.532													T	69670626	C	T	69670626	2	4	342	1	0	0	0	0	0	0	0	1	4595	547	19	1		1	DLG3	23	69670626	Silent	SNP	C	TCGA-DH-5144-01A-01D-1468-08	31590650	69670626	85599934	52	22451											
ATRX	546	broad.mit.edu	37	chrX	76949414	76949414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcactggctctggctgtAcaatcactgtacctagaatg	10	11	9	11	0	3	1	2	0	1	1	3	1	3	1	1	2	3	5	1	2	5	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:76949414A>G	ENST00000373344.5	-	6	597	c.383T>C	c.(382-384)gTa>gCa	p.V128A	ATRX_ENST00000373341.1_Missense_Mutation_p.V89A|ATRX_ENST00000395603.3_Intron|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	128					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)	CTCTGGCTGTACAATCACTGT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76949414	A	G	76949414	3	3	342	1	0	0	0	0	1	0	0	0	1213	391	14	3	7215	3	ATRX	23	76949414	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	7278788	76949414	78321146	53	22452											
COL4A5	1287	broad.mit.edu	37	chrX	107930900	107930900	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgtatgtacaaggaaatAaaagagcccacggtcaagac	16	7	9	9	1	1	2	1	0	0	2	2	3	2	3	2	2	2	2	2	2	7	3			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:107930900A>G	ENST00000328300.6	+	49	4748	c.4504A>G	c.(4504-4506)Aaa>Gaa	p.K1502E	COL4A5_ENST00000361603.2_Missense_Mutation_p.K1496E	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1496	Collagen IV NC1.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACAAGGAAATAAAAGAGCCCA	0.433									Alport syndrome with Diffuse Leiomyomatosis				G	107930900	A	G	107930900	3	3	342	1	0	0	0	0	1	0	0	0	3725	363	13	3	4683	3	COL4A5	23	107930900	Missense_Mutation	SNP	A	TCGA-DH-5144-01A-01D-1468-08	30981486	107930900	47339660	54	22453											
AMMECR1	9949	broad.mit.edu	37	chrX	109444269	109444269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtctatggtctgtataTggtcccatcctgtagagaga	10	12	12	7	0	2	2	0	0	2	2	4	4	4	3	2	3	0	2	2	3	4	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:109444269T>C	ENST00000262844.5	-	5	967	c.800A>G	c.(799-801)cAt>cGt	p.H267R	AMMECR1_ENST00000372059.2_Missense_Mutation_p.H230R|AMMECR1_ENST00000372057.1_Missense_Mutation_p.H144R	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	267	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGTCTGTATATGGTCCCATCC	0.373													C	109444269	T	C	109444269	3	2	342	1	0	0	0	0	1	0	0	0	578	1464	51	3	209	3	AMMECR1	23	109444269	Missense_Mutation	SNP	T	TCGA-DH-5144-01A-01D-1468-08	1513369	109444269	45826291	55	22454											
GPC3	2719	broad.mit.edu	37	chrX	132887716	132887716	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccacattgcagtaaccGccacagggtttaaccatcat	13	9	7	12	1	1	1	1	1	0	0	1	1	1	1	4	1	3	3	4	1	2	4			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:132887716G>A	ENST00000370818.3	-	3	1270	c.825C>T	c.(823-825)ggC>ggT	p.G275G	GPC3_ENST00000394299.2_Silent_p.G275G|GPC3_ENST00000543339.1_Silent_p.G221G	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	275						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TGCAGTAACCGCCACAGGGTT	0.483			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				A	132887716	G	A	132887716	2	1	342	1	0	0	0	0	0	0	0	1	6653	1074	38	1		1	GPC3	23	132887716	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	23443447	132887716	22382844	56	22455											
GPR50	9248	broad.mit.edu	37	chrX	150349210	150349210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgaccgtgcctctggccaCcctaagccccattccagatc	7	7	7	20	2	1	1	0	0	1	1	3	2	2	1	8	1	2	0	8	1	1	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:150349210C>A	ENST00000218316.3	+	2	1224	c.1155C>A	c.(1153-1155)caC>caA	p.H385Q		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	385	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCTGGCCACCCTAAGCCCC	0.582													A	150349210	C	A	150349210	3	1	342	1	0	0	0	0	1	0	0	0	6751	506	18	4	1161	4	GPR50	23	150349210	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	17461494	150349210	4921350	57	22456											
ARHGAP4	393	broad.mit.edu	37	chrX	153175536	153175536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctctccagctgggcGtccctgaggttcagggcaga	6	7	14	14	1	2	2	1	1	1	1	4	2	3	2	3	4	1	4	3	4	0	1			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153175536G>A	ENST00000370028.3	-	19	2337	c.2280C>T	c.(2278-2280)gaC>gaT	p.D760D	ARHGAP4_ENST00000393721.1_Silent_p.D542D|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000370016.1_Silent_p.D699D|ARHGAP4_ENST00000350060.5_Silent_p.D720D|ARHGAP4_ENST00000537206.1_Silent_p.D697D	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	720	SH3.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGGGCGTCCCTGAGGT	0.682													A	153175536	G	A	153175536	2	1	342	1	0	0	0	0	0	0	0	1	888	1136	40	1		1	ARHGAP4	23	153175536	Silent	SNP	G	TCGA-DH-5144-01A-01D-1468-08	2826326	153175536	2095024	58	22457											
GDI1	2664	broad.mit.edu	37	chrX	153668416	153668416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatgcgtgacgtctacCggaagtttgatctgggccag	8	9	13	11	3	2	2	0	2	2	0	2	3	2	3	3	2	3	2	3	2	2	2			TCGA-DH-5144-01A-01D-1468-08	TCGA-DH-5144-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b8626578-2105-4176-ad8c-5a2327743fa0	19e3a81b-ecb5-47d7-8d22-e1c55b6a25b7	g.chrX:153668416C>T	ENST00000447750.2	+	5	852	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	173					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding	p.R173R(1)		autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGACGTCTACCGGAAGTTTGA	0.577													T	153668416	C	T	153668416	3	4	342	1	0	0	0	0	1	0	0	0	6376	643	23	1	535	1	GDI1	23	153668416	Missense_Mutation	SNP	C	TCGA-DH-5144-01A-01D-1468-08	492880	153668416	1602144	59	22458											
CROCC	9696	broad.mit.edu	37	chr1	17250900	17250900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggagctgtcccgcGtggaggacctgctggcccag	6	6	16	13	2	0	0	0	0	0	0	1	3	1	3	3	4	4	4	3	4	0	0	rs140882535		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:17250900G>A	ENST00000375541.5	+	3	346	c.277G>A	c.(277-279)Gtg>Atg	p.V93M	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	93					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GCTGTCCCGCGTGGAGGACCT	0.657													A	17250900	G	A	17250900	3	1	343	1	0	0	0	0	1	0	0	0	3924	1145	40	1	287	1	CROCC	1	17250900	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		17250900	231999721	1	22459											
NTRK1	4914	broad.mit.edu	37	chr1	156846352	156846352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcggcacggggacctcaAccgcttcctccggtaccagc	7	7	11	16	4	1	0	1	0	0	0	3	1	3	1	5	4	4	3	5	4	3	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:156846352A>G	ENST00000368196.3	+	13	1895	c.1775A>G	c.(1774-1776)aAc>aGc	p.N592S	NTRK1_ENST00000392302.2_Missense_Mutation_p.N562S|NTRK1_ENST00000524377.1_Missense_Mutation_p.N598S|NTRK1_ENST00000358660.3_Missense_Mutation_p.N595S	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	598	Protein kinase.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	GGGGACCTCAACCGCTTCCTC	0.642			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			G	156846352	A	G	156846352	3	3	343	1	0	0	0	0	1	0	0	0	10782	43	2	3	1977	3	NTRK1	1	156846352	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08	139595452	156846352	92404269	2	22460											
KIRREL	55243	broad.mit.edu	37	chr1	158061183	158061183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagaacttcttggaggtgggGaccctggaacgctatacagt	10	9	14	8	1	1	1	0	0	1	1	1	5	1	4	1	5	3	1	1	5	4	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:158061183G>A	ENST00000368172.1	+	7	762	c.750G>A	c.(748-750)ggG>ggA	p.G250G	KIRREL_ENST00000416935.2_Silent_p.G336G|KIRREL_ENST00000360089.4_Silent_p.G272G|KIRREL_ENST00000368173.3_Silent_p.G452G|KIRREL_ENST00000359209.6_Silent_p.G436G|KIRREL_ENST00000392272.2_Silent_p.G333G			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	436	Ig-like C2-type 3.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TGGAGGTGGGGACCCTGGAAC	0.572													A	158061183	G	A	158061183	2	1	343	1	0	0	0	0	0	0	0	1	8382	1161	41	2		2	KIRREL	1	158061183	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	1214831	158061183	91189438	3	22461											
OR10K1	391109	broad.mit.edu	37	chr1	158435787	158435787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtgtgtatgggactaatgGctgctgcctgtgcctgtggc	4	12	17	8	0	0	0	0	0	0	0	0	1	0	1	2	4	3	3	2	4	2	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:158435787G>A	ENST00000289451.2	+	1	516	c.436G>A	c.(436-438)Gct>Act	p.A146T		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					GGGACTAATGGCTGCTGCCTG	0.552													A	158435787	G	A	158435787	3	1	343	1	0	0	0	0	1	0	0	0	10989	1203	42	2	438	2	OR10K1	1	158435787	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	374604	158435787	90814834	4	22462											
C1orf65	164127	broad.mit.edu	37	chr1	223568629	223568629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagcgcctcccaacagctcCcttgatcagatggtactaga	11	8	9	13	1	1	4	1	1	0	3	3	4	3	4	3	1	4	2	3	1	3	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr1:223568629C>T	ENST00000366875.3	+	1	1915	c.1812C>T	c.(1810-1812)tcC>tcT	p.S604S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	604										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		CCAACAGCTCCCTTGATCAGA	0.582													T	223568629	C	T	223568629	2	4	343	1	0	0	0	0	0	0	0	1	2076	610	22	2		2	C1orf65	1	223568629	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	65132842	223568629	25681992	5	22463											
RGPD3	653489	broad.mit.edu	37	chr2	107032445	107032445	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcataccataatggaggcTctgcaacatgttgttccaag	12	10	9	10	0	1	0	0	0	1	0	2	1	2	1	2	2	4	5	2	2	4	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:107032445T>C	ENST00000409886.3	-	21	5012	c.4925A>G	c.(4924-4926)gAg>gGg	p.E1642G	RGPD3_ENST00000304514.7_Splice_Site_p.E1642G	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1642					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TAATGGAGGCTCTGCAACATG	0.328													C	107032445	T	C	107032445	5	2	343	1	0	0	0	0	0	0	1	0	13375	1565	54	3	363	3	RGPD3	2	107032445	Splice_Site	SNP	T	TCGA-DH-A669-01A-12D-A31L-08		107032445	136166928	6	22464											
LYPD6B	130576	broad.mit.edu	37	chr2	150064872	150064872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgctttacttgtgaaaacGcaggggataattataactgc	13	12	10	6	1	0	1	0	1	0	0	0	2	0	2	0	2	5	2	0	2	6	6			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:150064872G>A	ENST00000409642.3	+	5	675	c.274G>A	c.(274-276)Gca>Aca	p.A92T	LYPD6B_ENST00000280115.7_Missense_Mutation_p.A92T|LYPD6B_ENST00000498249.1_3'UTR|LYPD6B_ENST00000409029.1_Missense_Mutation_p.A68T|LYPD6B_ENST00000409876.1_Missense_Mutation_p.A68T	NM_177964.3	NP_808879.2	Q8NI32	LPD6B_HUMAN	LY6/PLAUR domain containing 6B	68	UPAR/Ly6.					anchored to membrane|plasma membrane				endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11						TTGTGAAAACGCAGGGGATAA	0.373													A	150064872	G	A	150064872	3	1	343	1	0	0	0	0	1	0	0	0	9186	1087	38	1	288	1	LYPD6B	2	150064872	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	43032427	150064872	93134501	7	22465											
DYNC1I2	1781	broad.mit.edu	37	chr2	172549335	172549335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtgcaagaagaatcagatCttgaaaaaaaaaggagagaa	21	6	10	4	0	2	5	1	1	1	4	2	7	2	6	0	1	1	1	0	1	8	1			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:172549335C>T	ENST00000534253.2	+	3	325	c.157C>T	c.(157-159)Ctt>Ttt	p.L53F	DYNC1I2_ENST00000410079.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409197.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409317.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000397119.3_Missense_Mutation_p.L53F|DYNC1I2_ENST00000263811.4_Missense_Mutation_p.L53F|DYNC1I2_ENST00000508530.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000358002.6_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409773.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000409453.1_Missense_Mutation_p.L53F|DYNC1I2_ENST00000340296.4_Missense_Mutation_p.L53F			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	53					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			AGAATCAGATCTTGAAAAAAA	0.353													T	172549335	C	T	172549335	3	4	343	1	0	0	0	0	1	0	0	0	4882	913	32	2	163	2	DYNC1I2	2	172549335	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	22484463	172549335	70650038	8	22466											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	343	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	36563777	209113112	34086261	9	22467											
UGT1A1	54658	broad.mit.edu	37	chr2	234526858	234526858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccctctgtggtcttcGccaggggaatagcttgccac	5	10	10	16	1	2	0	0	0	2	0	4	1	3	1	5	3	2	1	5	3	2	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr2:234526858G>A	ENST00000373450.4	+	1	568	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGTGGTCTTCGCCAGGGGAAT	0.468													A	234526858	G	A	234526858	3	1	343	1	0	0	0	0	1	0	0	0	17046	1087	38	1		1	UGT1A1	2	234526858	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	25413746	234526858	8672515	10	22468											
SETD2	29072	broad.mit.edu	37	chr3	47088034	47088035	+	Frame_Shift_Ins	INS	-	-	TGTA																															tagtcactgctgcggctggcINStgtaccaccactccttgtgg																										TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:47088034_47088035insTGTA	ENST00000409792.3	-	16	7082_7083	c.7040_7041insTACA	c.(7039-7041)cagfs	p.Q2347fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2347	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CTGCGGCTGGCTGTACCACCAC	0.455			"N, F, S, Mis"		clear cell renal carcinoma								TGTA	47088035	-	TGTA	47088034	7	5	343	1	0	1	1	0	0	0	0	0	14224	796	28	0	677	0	SETD2	3	47088034	Frame_Shift_Ins	INS	-	TCGA-DH-A669-01A-12D-A31L-08		47088034	150934396	11	22469											
SETD2	29072	broad.mit.edu	37	chr3	47147518	47147518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccatgaaatagtaaTggatgtttttgtttcgtgca	10	15	11	5	1	1	1	1	1	0	0	2	2	1	2	1	2	1	4	1	2	3	5			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:47147518T>C	ENST00000409792.3	-	6	4850	c.4808A>G	c.(4807-4809)cAt>cGt	p.H1603R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1603	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GAAATAGTAATGGATGTTTTT	0.398			"N, F, S, Mis"		clear cell renal carcinoma								C	47147518	T	C	47147518	3	2	343	1	0	0	0	0	1	0	0	0	14224	1464	51	3	2950	3	SETD2	3	47147518	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	59484	47147518	150874912	12	22470											
LAMB2	3913	broad.mit.edu	37	chr3	49161202	49161202	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagctgtgcagtggaggcGgctgaggtgttgcgggcacc	7	7	18	9	2	0	1	0	1	0	0	0	2	0	2	1	5	3	5	1	5	1	1			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:49161202G>A	ENST00000418109.1	-	25	3920	c.3756C>T	c.(3754-3756)gcC>gcT	p.A1252A	LAMB2_ENST00000305544.4_Silent_p.A1252A	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1252	Domain II.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CAGTGGAGGCGGCTGAGGTGT	0.622													A	49161202	G	A	49161202	2	1	343	1	0	0	0	0	0	0	0	1	8670	1103	39	1		1	LAMB2	3	49161202	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	2013684	49161202	148861228	13	22471											
HYAL1	3373	broad.mit.edu	37	chr3	50338477	50338477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagctgccccctgggccGcactctcccccaggctgtgc	3	7	10	21	1	1	0	0	0	1	0	3	0	2	0	6	2	3	3	6	2	0	0			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:50338477G>A	ENST00000266031.4	-	2	1547	c.932C>T	c.(931-933)gCg>gTg	p.A311V	HYAL1_ENST00000395144.2_Missense_Mutation_p.A311V|HYAL1_ENST00000320295.8_Missense_Mutation_p.A311V|HYAL1_ENST00000395143.2_Intron|HYAL1_ENST00000447605.2_Missense_Mutation_p.A52V|HYAL1_ENST00000457214.2_Missense_Mutation_p.A129V			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	311						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	CCCCTGGGCCGCACTCTCCCC	0.627													A	50338477	G	A	50338477	3	1	343	1	0	0	0	0	1	0	0	0	7521	1087	38	1	383	1	HYAL1	3	50338477	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	1177275	50338477	147683953	14	22472											
GRM2	2912	broad.mit.edu	37	chr3	51751835	51751835	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccagccttggccaaggTcagtgtcctaagcagccctc	8	8	10	15	0	1	0	1	0	0	0	4	0	3	0	5	2	4	2	5	2	2	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:51751835T>A	ENST00000395052.3	+	5	2779		c.e5+2		GRM2_ENST00000475478.1_Splice_Site|GRM2_ENST00000442933.2_Splice_Site	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2						synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	TTGGCCAAGGTCAGTGTCCTA	0.622													A	51751835	T	A	51751835	5	1	343	1	0	0	0	0	0	0	1	0	6852	1681	58	5	2561	5	GRM2	3	51751835	Splice_Site	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	1413358	51751835	146270595	15	22473											
PBRM1	55193	broad.mit.edu	37	chr3	52643673	52643673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtagatcaaagactcCggctcattgtatgtacaggc	10	13	9	9	1	3	2	2	0	1	2	4	2	4	2	1	2	1	4	1	2	4	5			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:52643673C>T	ENST00000356770.4	-	15	2129	c.2127G>A	c.(2125-2127)ccG>ccA	p.P709P	PBRM1_ENST00000409057.1_Silent_p.P741P|PBRM1_ENST00000409767.1_Silent_p.P756P|PBRM1_ENST00000410007.1_Silent_p.P741P|PBRM1_ENST00000296302.7_Silent_p.P741P|PBRM1_ENST00000409114.3_Silent_p.P756P|PBRM1_ENST00000394830.3_Silent_p.P741P|PBRM1_ENST00000337303.4_Silent_p.P741P			Q86U86	PB1_HUMAN	polybromo 1	741	Bromo 5.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCAAAGACTCCGGCTCATTGT	0.423			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								T	52643673	C	T	52643673	2	4	343	1	0	0	0	0	0	0	0	1	11567	639	23	1		1	PBRM1	3	52643673	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	891838	52643673	145378757	16	22474											
ZIC4	84107	broad.mit.edu	37	chr3	147108875	147108875	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgtgcaccttcatgtgctTacgcagcgagctggggtgcg	5	9	14	13	4	1	0	1	0	0	0	1	1	1	0	2	2	6	4	2	2	1	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr3:147108875T>C	ENST00000383075.3	-	4	1359	c.847A>G	c.(847-849)Aag>Gag	p.K283E	ZIC4_ENST00000491672.1_Missense_Mutation_p.K77E|ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000425731.3_Missense_Mutation_p.K321E|ZIC4_ENST00000473123.1_Missense_Mutation_p.K283E|ZIC4_ENST00000525172.2_Missense_Mutation_p.K333E|ZIC4_ENST00000484399.1_Missense_Mutation_p.K283E	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	283						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						TTCATGTGCTTACGCAGCGAG	0.642													C	147108875	T	C	147108875	3	2	343	1	0	0	0	0	1	0	0	0	17782	1763	61	3	165	3	ZIC4	3	147108875	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	94465202	147108875	50913555	17	22475											
RBM46	166863	broad.mit.edu	37	chr4	155720132	155720132	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaaagaaacttagagattAtgcttttgttcactttttca	12	17	7	5	0	2	2	2	0	0	2	2	3	2	2	0	1	2	3	0	1	5	8			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:155720132A>G	ENST00000510397.1	+	4	997	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	RBM46_ENST00000281722.3_Missense_Mutation_p.Y273C|RBM46_ENST00000514866.1_Missense_Mutation_p.Y273C	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	273	RRM 3.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				CTTAGAGATTATGCTTTTGTT	0.363													G	155720132	A	G	155720132	3	3	343	1	0	0	0	0	1	0	0	0	13228	449	16	3	828	3	RBM46	4	155720132	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08		155720132	35434144	18	22476											
TRIML2	205860	broad.mit.edu	37	chr4	189026001	189026001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgacctgaatcatcGccattctttcttgctcatca	9	14	4	14	1	6	2	4	2	2	0	7	2	6	2	2	0	1	1	2	0	1	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr4:189026001G>A	ENST00000512729.1	-	2	499	c.125C>T	c.(124-126)gCg>gTg	p.A42V	TRIML2_ENST00000326754.3_Missense_Mutation_p.A42V|TRIML2_ENST00000536972.1_Missense_Mutation_p.A92V	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	42							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTGAATCATCGCCATTCTTTC	0.363													A	189026001	G	A	189026001	3	1	343	1	0	0	0	0	1	0	0	0	16652	1087	38	1	1062	1	TRIML2	4	189026001	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	33305869	189026001	2128275	19	22477											
CDH12	1010	broad.mit.edu	37	chr5	21817119	21817119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtcaaacaaatttccccCatctcctggaacaatattgt	13	12	5	11	0	2	0	1	0	1	0	4	2	3	1	3	1	2	0	3	1	5	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr5:21817119C>A	ENST00000382254.1	-	9	2023	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000522262.1_Missense_Mutation_p.G273W|CDH12_ENST00000504376.2_Missense_Mutation_p.G313W	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	313	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AAATTTCCCCCATCTCCTGGA	0.383										HNSCC(59;0.17)			A	21817119	C	A	21817119	3	1	343	1	0	0	0	0	1	0	0	0	3128	594	21	4	1475	4	CDH12	5	21817119	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		21817119	159098141	20	22478											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156726	26156726	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaagcgcaaagcgtcTgggcccccggtgtccgagct	6	5	15	15	5	1	0	0	0	1	0	2	1	2	0	4	3	3	2	4	3	2	0	rs148044098		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:26156726T>A	ENST00000304218.3	+	1	168	c.108T>A	c.(106-108)tcT>tcA	p.S36S		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	36	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						GCAAAGCGTCTGGGCCCCCGG	0.662													A	26156726	T	A	26156726	2	1	343	1	0	0	0	0	0	0	0	1	7181	1567	55	5		5	HIST1H1E	6	26156726	Silent	SNP	T	TCGA-DH-A669-01A-12D-A31L-08		26156726	144958341	21	22479											
DHX16	8449	broad.mit.edu	37	chr6	30638670	30638670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctgaaggcgttcaCgctctgtccgttcccactca	6	10	9	16	3	3	1	2	1	1	0	6	1	6	1	4	2	0	3	4	2	1	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:30638670C>T	ENST00000376442.3	-	3	701	c.506G>A	c.(505-507)cGt>cAt	p.R169H		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	169					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						AAGGCGTTCACGCTCTGTCCG	0.557													T	30638670	C	T	30638670	3	4	343	1	0	0	0	0	1	0	0	0	4541	536	19	1	2691	1	DHX16	6	30638670	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	4481944	30638670	140476397	22	22480											
ITPR3	3710	broad.mit.edu	37	chr6	33638268	33638268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgctgcacgtgcacGtggaccgtgacccccaggag	8	6	13	14	3	0	2	0	2	0	0	0	4	0	4	4	2	3	3	4	2	0	0			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:33638268G>A	ENST00000374316.5	+	20	3416	c.2356G>A	c.(2356-2358)Gtg>Atg	p.V786M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V786M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	786					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCACGTGCACGTGGACCGTGA	0.622													A	33638268	G	A	33638268	3	1	343	1	0	0	0	0	1	0	0	0	7980	1145	40	1	2430	1	ITPR3	6	33638268	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	2999598	33638268	137476799	23	22481											
TDRD6	221400	broad.mit.edu	37	chr6	46660106	46660106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaatattgccggggtTgtgcattcattgctccttgc	7	15	10	9	1	1	0	1	0	0	0	2	0	2	0	2	2	5	4	2	2	3	7			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:46660106T>C	ENST00000544460.1	+	1	4495	c.4241T>C	c.(4240-4242)tTg>tCg	p.L1414S	TDRD6_ENST00000316081.6_Missense_Mutation_p.L1414S	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1414					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TTGCCGGGGTTGTGCATTCAT	0.408													C	46660106	T	C	46660106	3	2	343	1	0	0	0	0	1	0	0	0	15834	1821	63	3	4243	3	TDRD6	6	46660106	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	13021838	46660106	124454961	24	22482											
EEF1A1	1915	broad.mit.edu	37	chr6	74229701	74229701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtggtggacttgcccgaatCtacgtgtccaatgacgacaa	11	9	11	10	3	1	1	0	1	1	0	2	4	2	2	2	2	2	0	2	2	4	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:74229701C>T	ENST00000316292.9	-	1	1040	c.49G>A	c.(49-51)Gat>Aat	p.D17N	EEF1A1_ENST00000331523.2_Missense_Mutation_p.D17N|EEF1A1_ENST00000309268.6_Missense_Mutation_p.D17N	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	17						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TTGCCCGAATCTACGTGTCCA	0.423													T	74229701	C	T	74229701	3	4	343	1	0	0	0	0	1	0	0	0	4962	913	32	2	1367	2	EEF1A1	6	74229701	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	27569595	74229701	96885366	25	22483											
TAAR2	9287	broad.mit.edu	37	chr6	132939136	132939136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtgtgaagctgcttgaagTaggaaatggaaattatcatg	13	12	13	3	0	1	2	1	2	0	0	1	4	1	4	0	2	2	3	0	2	6	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:132939136T>C	ENST00000275191.2	-	1	181	c.74A>G	c.(73-75)tAc>tGc	p.Y25C	TAAR2_ENST00000537809.1_Missense_Mutation_p.Y25C|TAAR2_ENST00000367931.1_Missense_Mutation_p.Y70C	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	70						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CTGCTTGAAGTAGGAAATGGA	0.428													C	132939136	T	C	132939136	3	2	343	1	0	0	0	0	1	0	0	0	15587	1638	57	3	850	3	TAAR2	6	132939136	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	58709435	132939136	38175931	26	22484											
ZDHHC14	79683	broad.mit.edu	37	chr6	158068387	158068387	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgtgttgccctgtgtgggCccatctcaccaaggtaagac	7	10	12	12	0	1	1	1	0	1	1	2	1	1	1	3	2	1	3	3	2	2	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr6:158068387C>A	ENST00000359775.5	+	7	1841	c.952C>A	c.(952-954)Ccc>Acc	p.P318T	ZDHHC14_ENST00000414563.2_Missense_Mutation_p.P318T|ZDHHC14_ENST00000341375.8_3'UTR			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	318						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTGTGTGGGCCCATCTCACC	0.498													A	158068387	C	A	158068387	3	1	343	1	0	0	0	0	1	0	0	0	17705	739	26	4	978	4	ZDHHC14	6	158068387	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	25129251	158068387	13046680	27	22485											
SEMA3E	9723	broad.mit.edu	37	chr7	83119432	83119432	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgatatttctatacctCtttatagccgtcactgattc	9	18	5	9	1	3	2	1	2	2	0	4	2	3	2	2	0	2	1	2	0	5	9			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:83119432C>G	ENST00000307792.3	-	2	741	c.274G>C	c.(274-276)Gag>Cag	p.E92Q	SEMA3E_ENST00000427262.1_Missense_Mutation_p.E32Q	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	92	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TTCTATACCTCTTTATAGCCG	0.388													G	83119432	C	G	83119432	3	3	343	1	0	0	0	0	1	0	0	0	14121	922	32	4	2117	4	SEMA3E	7	83119432	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		83119432	76019231	28	22486											
PARP12	64761	broad.mit.edu	37	chr7	139734050	139734050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccaggtttgcatggtcGtcacatcctggggagacacg	8	9	12	12	2	1	1	1	0	0	1	3	2	2	1	3	4	2	2	3	4	1	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:139734050G>A	ENST00000263549.3	-	8	2279	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	469						nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					TTGCATGGTCGTCACATCCTG	0.493													A	139734050	G	A	139734050	3	1	343	1	0	0	0	0	1	0	0	0	11533	1145	40	1	719	1	PARP12	7	139734050	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	56614618	139734050	19404613	29	22487											
GIMAP7	168537	broad.mit.edu	37	chr7	150217736	150217736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgaggaaaatctacaCtgaccaattaaatgaagaaa	18	10	8	5	0	1	4	0	3	1	1	1	5	1	5	1	2	1	1	1	2	8	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr7:150217736C>T	ENST00000313543.4	+	2	831	c.674C>T	c.(673-675)aCt>aTt	p.T225I		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	225							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAAATCTACACTGACCAATTA	0.343													T	150217736	C	T	150217736	3	4	343	1	0	0	0	0	1	0	0	0	6440	565	20	2	676	2	GIMAP7	7	150217736	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	10483686	150217736	8920927	30	22488											
MRPL15	29088	broad.mit.edu	37	chr8	55060054	55060054	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgcaaagaaccgtgggtaCctggcggatcctgccaaatt	11	8	12	10	2	0	1	0	0	0	1	1	3	1	2	4	3	4	2	4	3	4	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:55060054C>G	ENST00000260102.4	+	5	740	c.666C>G	c.(664-666)taC>taG	p.Y222*		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	222					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACCGTGGGTACCTGGCGGATC	0.433													G	55060054	C	G	55060054	4	3	343	1	0	0	0	0	0	1	0	0	9856	518	18	4	684	4	MRPL15	8	55060054	Nonsense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		55060054	91303968	31	22489											
DPY19L4	286148	broad.mit.edu	37	chr8	95768289	95768289	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaacaagaattgaatacTccattcctttaagagaaaac	19	10	4	8	0	0	3	0	1	0	2	2	4	2	3	2	0	4	0	2	0	9	6			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:95768289T>G	ENST00000414645.2	+	7	736	c.637T>G	c.(637-639)Tcc>Gcc	p.S213A		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	213						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					AATTGAATACTCCATTCCTTT	0.313													G	95768289	T	G	95768289	3	3	343	1	0	0	0	0	1	0	0	0	4782	1551	54	5	663	5	DPY19L4	8	95768289	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	40708235	95768289	50595733	32	22490											
TG	7038	broad.mit.edu	37	chr8	134128882	134128882	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcatctgccctataatcgAcatggccagtgcctgggcaa	10	10	9	12	1	2	0	1	0	1	0	3	1	2	0	3	2	2	1	3	2	4	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr8:134128882A>G	ENST00000220616.4	+	45	7824	c.7784A>G	c.(7783-7785)gAc>gGc	p.D2595G	TG_ENST00000377869.1_Missense_Mutation_p.D2538G|TG_ENST00000542445.1_Missense_Mutation_p.D965G|TG_ENST00000519543.1_Missense_Mutation_p.D728G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2595					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCTATAATCGACATGGCCAGT	0.537													G	134128882	A	G	134128882	3	3	343	1	0	0	0	0	1	0	0	0	15913	275	10	3	7962	3	TG	8	134128882	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08	38360593	134128882	12235140	33	22491											
NOL6	65083	broad.mit.edu	37	chr9	33463111	33463111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctggtcatagaagaaaaGggccagatccccaaaggcct	14	6	11	10	0	1	3	1	0	0	3	2	3	2	3	4	3	1	1	4	3	5	1			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr9:33463111G>A	ENST00000455041.2	-	24	3114	c.3055C>T	c.(3055-3057)Ctt>Ttt	p.L1019F	NOL6_ENST00000379471.2_Intron|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	1071					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		TAGAAGAAAAGGGCCAGATCC	0.552													A	33463111	G	A	33463111	3	1	343	1	0	0	0	0	1	0	0	0	10601	1000	35	2	237	2	NOL6	9	33463111	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		33463111	107750320	34	22492											
OR51B5	282763	broad.mit.edu	37	chr11	5364389	5364389	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagagggttgcagatggcAataaaacggtcataggccat	14	8	12	7	1	1	2	1	0	0	2	1	2	1	2	1	4	2	3	1	4	5	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr11:5364389A>T	ENST00000300773.2	-	1	420	c.366T>A	c.(364-366)atT>atA	p.I122I	HBE1_ENST00000380237.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCAGATGGCAATAAAACGGT	0.463													T	5364389	A	T	5364389	2	4	343	1	0	0	0	0	0	0	0	1	11167	126	5	5		5	OR51B5	11	5364389	Silent	SNP	A	TCGA-DH-A669-01A-12D-A31L-08		5364389	129642127	35	22493											
CMAS	55907	broad.mit.edu	37	chr12	22199458	22199458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggtcccgctcattggctGggtcctgcgtgcggccctgg	1	9	18	13	3	1	0	1	0	0	0	3	0	3	0	3	6	2	2	3	6	0	1			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:22199458G>C	ENST00000229329.2	+	1	351	c.221G>C	c.(220-222)tGg>tCg	p.W74S		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	74					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTCATTGGCTGGGTCCTGCGT	0.692													C	22199458	G	C	22199458	3	2	343	1	0	0	0	0	1	0	0	0	3606	1357	47	4	223	4	CMAS	12	22199458	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		22199458	111652437	36	22494											
LRP1	4035	broad.mit.edu	37	chr12	57572242	57572242	+	Frame_Shift_Del	DEL	G	G	-																															cgtttgcagtgacgctgtacGggggggaggtctactggact																								rs139915490		TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:57572242delG	ENST00000243077.3	+	27	4928	c.4462delG	c.(4462-4464)gggfs	p.G1489fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1489					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GACGCTGTACGGGGGGGAGGT	0.587													-	57572242	G	-	57572242	7	5	343	1	0	1	0	1	0	0	0	0	9021	1116	39	0	4568	0	LRP1	12	57572242	Frame_Shift_Del	DEL	G	TCGA-DH-A669-01A-12D-A31L-08	35372784	57572242	76279653	37	22495											
LGR5	8549	broad.mit.edu	37	chr12	71974137	71974137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagatttctaatcaatggAataaaggtgacaacagcagt	18	10	8	5	0	2	2	1	1	1	1	2	3	2	3	0	2	2	1	0	2	7	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:71974137A>G	ENST00000266674.5	+	16	1797	c.1486A>G	c.(1486-1488)Aat>Gat	p.N496D	LGR5_ENST00000540815.2_Missense_Mutation_p.N472D|LGR5_ENST00000536515.1_Missense_Mutation_p.N424D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	496						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TAATCAATGGAATAAAGGTGA	0.393													G	71974137	A	G	71974137	3	3	343	1	0	0	0	0	1	0	0	0	8817	246	9	3	1548	3	LGR5	12	71974137	Missense_Mutation	SNP	A	TCGA-DH-A669-01A-12D-A31L-08	14401895	71974137	61877758	38	22496											
COQ5	84274	broad.mit.edu	37	chr12	120966794	120966794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaaacccaaagtgcgtttCcgctgcccgcttctcttggg	6	11	9	15	3	2	0	1	0	1	0	4	0	3	0	3	1	3	3	3	1	2	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:120966794C>T	ENST00000288532.6	-	1	191	c.151G>A	c.(151-153)Gaa>Aaa	p.E51K	COQ5_ENST00000445328.2_Missense_Mutation_p.E51K	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	51					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AAGTGCGTTTCCGCTGCCCGC	0.632													T	120966794	C	T	120966794	3	4	343	1	0	0	0	0	1	0	0	0	3779	864	30	2	860	2	COQ5	12	120966794	Missense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	48992657	120966794	12885101	39	22497											
RNF34	80196	broad.mit.edu	37	chr12	121867855	121867855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcttcttgtaaaggccGccttagaaatggtccagaaa	13	11	9	8	1	2	2	0	0	2	2	3	2	3	2	3	2	0	1	3	2	6	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr12:121867855G>A	ENST00000392464.2	+	7	1151	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	KDM2B_ENST00000542973.1_3'UTR|KDM2B_ENST00000377069.4_3'UTR|KDM2B_ENST00000536437.1_3'UTR|KDM2B_ENST00000377071.4_3'UTR			Q969K3	RNF34_HUMAN	ring finger protein 34, E3 ubiquitin protein ligase	15					apoptosis	endomembrane system|membrane|nuclear speck	ligase activity|zinc ion binding			breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		TGTAAAGGCCGCCTTAGAAAT	0.483													A	121867855	G	A	121867855	3	1	343	1	0	0	0	0	1	0	0	0	13580	1102	38	1		1	RNF34	12	121867855	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	901061	121867855	11984040	40	22498											
RB1	5925	broad.mit.edu	37	chr13	48936948	48936966	+	Splice_Site	DEL	CAGAAACAGCTGTTATACC	CAGAAACAGCTGTTATACC	-																															tatctaatttaccacttttaCagaaacagctgttataccca																								rs147754935	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr13:48936948_48936966delCAGAAACAGCTGTTATACC	ENST00000267163.4	+	8	856_872	c.718_734delCAGAAACAGCTGTTATACC	c.(718-735)cagaaacagctgttatac>c	p.QKQLLY240fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	240					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.K240_A242>T(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ACCACTTTTACAGAAACAGCTGTTATACCCATTAATGGT	0.338		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48936966	CAGAAACAGCTGTTATACC	-	48936948	8	5	343	1	0	1	0	1	0	0	1	0	13186	493	17	0		0	RB1	13	48936948	Splice_Site	DEL	CAGAAACAGCTGTTATACC	TCGA-DH-A669-01A-12D-A31L-08		48936948	66232930	41	22499											
FLRT2	23768	broad.mit.edu	37	chr14	86088048	86088048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgcctcttgggatcccggagGgcgtaactgtactctacctc	6	11	11	13	2	2	0	0	0	2	0	4	2	3	2	3	3	4	2	3	3	3	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr14:86088048G>A	ENST00000330753.4	+	2	957	c.190G>A	c.(190-192)Ggc>Agc	p.G64S	FLRT2_ENST00000554746.1_Missense_Mutation_p.G64S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	64					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GATCCCGGAGGGCGTAACTGT	0.517													A	86088048	G	A	86088048	3	1	343	1	0	0	0	0	1	0	0	0	5988	1232	43	2	192	2	FLRT2	14	86088048	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		86088048	21261492	42	22500											
RAB27A	5873	broad.mit.edu	37	chr15	55497845	55497845	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattatcaggtccagaagcaTctcaattgcttggcttatgt	10	14	8	9	0	2	1	2	0	1	1	4	1	3	1	1	2	2	3	1	2	4	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr15:55497845T>A	ENST00000396307.2	-	6	777	c.526A>T	c.(526-528)Atg>Ttg	p.M176L	RAB27A_ENST00000564609.1_Missense_Mutation_p.M176L|RAB27A_ENST00000336787.1_Missense_Mutation_p.M176L|RAB27A_ENST00000569493.1_Missense_Mutation_p.M176L	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	176					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		TCCAGAAGCATCTCAATTGCT	0.473													A	55497845	T	A	55497845	3	1	343	1	0	0	0	0	1	0	0	0	13002	1435	50	5	143	5	RAB27A	15	55497845	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08		55497845	47033547	43	22501											
RHBDF1	64285	broad.mit.edu	37	chr16	109807	109807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttggtgtggttcccagcGctgtttttggtgcagatctg	3	16	15	7	1	1	1	0	0	1	1	2	1	2	1	1	4	2	5	1	4	0	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:109807G>A	ENST00000262316.6	-	14	1882	c.1740C>T	c.(1738-1740)agC>agT	p.S580S		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	580					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity	p.S580S(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GGTTCCCAGCGCTGTTTTTGG	0.592													A	109807	G	A	109807	2	1	343	1	0	0	0	0	0	0	0	1	13408	1078	38	1		1	RHBDF1	16	109807	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		109807	90244946	44	22502											
ERN2	10595	broad.mit.edu	37	chr16	23716446	23716446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagcagcaggcccatcccGcaggacgccaggtggctcat	8	5	14	14	2	1	1	1	1	0	0	2	2	2	2	3	4	2	4	3	4	0	0			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:23716446G>A	ENST00000256797.4	-	8	924	c.756C>T	c.(754-756)tgC>tgT	p.C252C	ERN2_ENST00000457008.2_Silent_p.C204C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	204					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		GGCCCATCCCGCAGGACGCCA	0.647													A	23716446	G	A	23716446	2	1	343	1	0	0	0	0	0	0	0	1	5279	1079	38	1		1	ERN2	16	23716446	Silent	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	23606639	23716446	66638307	45	22503											
ABCC11	85320	broad.mit.edu	37	chr16	48210912	48210912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgaagcacggtgggtGtgttgtctctgtatttcatg	5	15	14	7	2	2	1	1	1	1	0	3	1	2	1	1	2	2	3	1	2	2	3			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:48210912G>T	ENST00000394747.1	-	24	3810	c.3461C>A	c.(3460-3462)aCa>aAa	p.T1154K	ABCC11_ENST00000394748.1_Missense_Mutation_p.T1154K|ABCC11_ENST00000356608.2_Missense_Mutation_p.T1154K|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Missense_Mutation_p.T1154K	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1154	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CACGGTGGGTGTGTTGTCTCT	0.557													T	48210912	G	T	48210912	3	4	343	1	0	0	0	0	1	0	0	0	51	1377	48	4	711	4	ABCC11	16	48210912	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	24494466	48210912	42143841	46	22504											
DDX19A	55308	broad.mit.edu	37	chr16	70400656	70400656	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgaggaagagaccctggaTaccatcaagcagtactatgt	13	8	11	9	1	1	2	1	1	0	1	1	5	1	4	2	2	3	2	2	2	5	3	rs142443034	byFrequency	TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr16:70400656T>C	ENST00000302243.7	+	9	1075	c.912T>C	c.(910-912)gaT>gaC	p.D304D	DDX19A_ENST00000417604.2_Silent_p.D273D|DDX19A_ENST00000443119.2_Silent_p.D214D	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGACCCTGGATACCATCAAGC	0.502													C	70400656	T	C	70400656	2	2	343	1	0	0	0	0	0	0	0	1	4380	1403	49	3		3	DDX19A	16	70400656	Silent	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	22189744	70400656	19954097	47	22505											
SYNRG	11276	broad.mit.edu	37	chr17	35902074	35902074	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttggaagctactcacCttgaacagaaaggtcaaagg	14	8	9	10	0	2	2	2	1	0	1	2	3	2	3	2	3	4	1	2	3	6	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:35902074C>T	ENST00000339208.6	-	15	3342	c.3202G>A	c.(3202-3204)Gga>Aga	p.G1068R	SYNRG_ENST00000345615.4_Splice_Site_p.G990R|SYNRG_ENST00000585472.1_Splice_Site_p.G989R|SYNRG_ENST00000346661.4_Splice_Site_p.G1068R|SYNRG_ENST00000591288.1_Splice_Site_p.G862R|SYNRG_ENST00000502449.2_Splice_Site_p.G945R|SYNRG_ENST00000394378.2_Splice_Site_p.G990R	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1068					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGCTACTCACCTTGAACAGAA	0.373													T	35902074	C	T	35902074	5	4	343	1	0	0	0	0	0	0	1	0	15557	695	24	2	847	2	SYNRG	17	35902074	Splice_Site	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		35902074	45293136	48	22506											
CD300LF	146722	broad.mit.edu	37	chr17	72700686	72700686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaattccacaccagtaagTgtcagcatcagttttcatga	12	12	6	11	0	4	1	4	1	0	0	5	1	5	1	2	0	1	3	2	0	2	4			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr17:72700686T>C	ENST00000469092.1	-	3	598	c.322A>G	c.(322-324)Act>Gct	p.T108A	CD300LF_ENST00000581500.1_Missense_Mutation_p.T108A|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000326165.6_Missense_Mutation_p.T105A|CD300LF_ENST00000301573.9_Missense_Mutation_p.T105A|CD300LF_ENST00000361254.4_Missense_Mutation_p.T108A|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000464910.1_Missense_Mutation_p.T108A|CD300LF_ENST00000583937.1_Missense_Mutation_p.T105A|CD300LF_ENST00000343125.4_Missense_Mutation_p.T108A			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	105	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CACCAGTAAGTGTCAGCATCA	0.478													C	72700686	T	C	72700686	3	2	343	1	0	0	0	0	1	0	0	0	3031	1696	59	3	583	3	CD300LF	17	72700686	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	36798612	72700686	8494524	49	22507											
L3MBTL4	91133	broad.mit.edu	37	chr18	6241395	6241395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatttctttggagcattttGcaatttgcaggccttcaagt	9	17	8	7	0	2	0	1	0	1	0	2	1	2	1	1	2	3	3	1	2	3	7			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:6241395G>T	ENST00000400104.3	-	8	714	c.514C>A	c.(514-516)Caa>Aaa	p.Q172K	L3MBTL4_ENST00000535782.1_5'UTR|L3MBTL4_ENST00000284898.6_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000400105.2_Missense_Mutation_p.Q172K|L3MBTL4_ENST00000317931.7_Missense_Mutation_p.Q172K			Q8NA19	LMBL4_HUMAN	l(3)mbt-like 4 (Drosophila)	172					chromatin modification	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		Colorectal(10;0.0249)				GGAGCATTTTGCAATTTGCAG	0.308													T	6241395	G	T	6241395	3	4	343	1	0	0	0	0	1	0	0	0	8653	1328	46	4	1409	4	L3MBTL4	18	6241395	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		6241395	71835853	50	22508											
HAUS1	115106	broad.mit.edu	37	chr18	43685266	43685266	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagaacgcaacagggTccgggacagggatgtctacc	10	7	12	12	2	2	1	1	0	1	1	3	3	3	3	3	3	3	1	3	3	3	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr18:43685266T>G	ENST00000282058.6	+	2	217	c.137T>G	c.(136-138)gTc>gGc	p.V46G	HAUS1_ENST00000585518.1_Missense_Mutation_p.V46G	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	46					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						CGCAACAGGGTCCGGGACAGG	0.438													G	43685266	T	G	43685266	3	3	343	1	0	0	0	0	1	0	0	0	7020	1667	58	5	143	5	HAUS1	18	43685266	Missense_Mutation	SNP	T	TCGA-DH-A669-01A-12D-A31L-08	37443871	43685266	34391982	51	22509											
ABCA7	10347	broad.mit.edu	37	chr19	1056090	1056090	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcttctcgctggggggcCgagacccaggcctgccctcg	4	6	16	15	3	1	1	0	0	1	1	3	3	1	1	4	5	1	2	4	5	0	1			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:1056090C>T	ENST00000263094.6	+	32	4495	c.4264C>T	c.(4264-4266)Cga>Tga	p.R1422*	ABCA7_ENST00000433129.1_Nonsense_Mutation_p.R1422*|ABCA7_ENST00000435683.2_Nonsense_Mutation_p.R1284*	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1422					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCTGGGGGGCCGAGACCCAGG	0.726													T	1056090	C	T	1056090	4	4	343	1	0	0	0	0	0	1	0	0	37	644	23	1	4386	1	ABCA7	19	1056090	Nonsense_Mutation	SNP	C	TCGA-DH-A669-01A-12D-A31L-08		1056090	58072893	52	22510											
YIPF2	78992	broad.mit.edu	37	chr19	11038362	11038364	+	In_Frame_Del	DEL	GCT	GCT	-																															gctgaaggtccagaatcccgGctgctgctgctgctgctgct																										TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:11038362_11038364delGCT	ENST00000586748.1	-	4	393_395	c.221_223delAGC	c.(220-225)cagccg>ccg	p.Q74del	YIPF2_ENST00000590329.1_In_Frame_Del_p.Q74del|YIPF2_ENST00000253031.2_In_Frame_Del_p.Q74del			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	74						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CAGAATCCCGgctgctgctgctg	0.621													-	11038364	GCT	-	11038362	7	5	343	1	0	1	0	1	0	0	0	0	17580	1203	42	0	751	0	YIPF2	19	11038362	In_Frame_Del	DEL	GCT	TCGA-DH-A669-01A-12D-A31L-08	9982272	11038362	48090621	53	22511											
ZNF780B	163131	broad.mit.edu	37	chr19	40541052	40541052	+	Frame_Shift_Del	DEL	G	G	-																															aatacttcgatgttgattaaGatttgaaccacgacgaaaga																										TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:40541052delG	ENST00000434248.1	-	5	1779	c.1714delC	c.(1714-1716)cttfs	p.L572fs	ZNF780B_ENST00000221355.6_Frame_Shift_Del_p.L424fs	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	572					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TGTTGATTAAGATTTGAACCA	0.383													-	40541052	G	-	40541052	7	5	343	1	0	1	0	1	0	0	0	0	18252	942	33	0	791	0	ZNF780B	19	40541052	Frame_Shift_Del	DEL	G	TCGA-DH-A669-01A-12D-A31L-08	29502690	40541052	18587931	54	22512											
LILRB1	10859	broad.mit.edu	37	chr19	55143565	55143565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccgtgggtcgtcccgcGccatcttctccgtgggcccc	2	9	12	18	5	2	0	0	0	2	0	5	0	3	0	6	2	1	0	6	2	0	1			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr19:55143565G>A	ENST00000396331.1	+	6	895	c.538G>A	c.(538-540)Gcc>Acc	p.A180T	LILRB1_ENST00000324602.7_Missense_Mutation_p.A180T|LILRB1_ENST00000396321.2_Missense_Mutation_p.A180T|LILRB1_ENST00000396315.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396317.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396327.3_Missense_Mutation_p.A180T|LILRB1_ENST00000427581.2_Missense_Mutation_p.A216T|LILRB1_ENST00000434867.2_Missense_Mutation_p.A180T|LILRB1_ENST00000448689.1_Missense_Mutation_p.A180T|LILRB1_ENST00000396332.4_Missense_Mutation_p.A180T|LILRB1_ENST00000418536.2_Missense_Mutation_p.A180T	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	180	Ig-like C2-type 2.				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		GTCGTCCCGCGCCATCTTCTC	0.577										HNSCC(37;0.09)			A	55143565	G	A	55143565	3	1	343	1	0	0	0	0	1	0	0	0	8850	1087	38	1	552	1	LILRB1	19	55143565	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08	14602513	55143565	3985418	55	22513											
C20orf112	140688	broad.mit.edu	37	chr20	31035488	31035488	+	Missense_Mutation	SNP	G	G	A																															gtagcccgcgatgagctgccGcacggcgctgatctccgtgg																										TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035488G>A	ENST00000359676.5	-	8	1364	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W		NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	408										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						ATGAGCTGCCGCACGGCGCTG	0.667													A	31035488	G	A	31035488	3	1	343	1	0	0	0	0	1	0	0	0	2102	1086	38	1	92	1	C20orf112	20	31035488	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		31035488	31990032	56	22514	35	2									
C20orf112	140688	broad.mit.edu	37	chr20	31035489	31035489	+	Silent	SNP	C	C	T																															tagcccgcgatgagctgccgCacggcgctgatctccgtggg																										TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:31035489C>T	ENST00000359676.5	-	8	1363	c.1221G>A	c.(1219-1221)gtG>gtA	p.V407V		NM_001256798.1|NM_080616.4	NP_001243727.1|NP_542183.2	Q96MY1	CT112_HUMAN	chromosome 20 open reading frame 112	407										endometrium(3)|kidney(2)|large_intestine(5)|lung(5)	15						TGAGCTGCCGCACGGCGCTGA	0.672													T	31035489	C	T	31035489	2	4	343	1	0	0	0	0	0	0	0	1	2102	697	25	2		2	C20orf112	20	31035489	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	1	31035489	31990031	57	22515	35	2									
SLC2A4RG	56731	broad.mit.edu	37	chr20	62372750	62372750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaaaagcccggctggaCgaggtcatggctgccgctgc	8	5	15	13	3	1	0	1	0	0	0	1	3	1	2	3	5	3	3	3	5	2	0			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr20:62372750C>T	ENST00000266077.2	+	3	361	c.309C>T	c.(307-309)gaC>gaT	p.D103D	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	103						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					CCCGGCTGGACGAGGTCATGG	0.677													T	62372750	C	T	62372750	2	4	343	1	0	0	0	0	0	0	0	1	14641	535	19	1		1	SLC2A4RG	20	62372750	Silent	SNP	C	TCGA-DH-A669-01A-12D-A31L-08	31337261	62372750	652770	58	22516											
DYRK1A	1859	broad.mit.edu	37	chr21	38884668	38884668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtctactccaatccccGccaagagactggcatagctg	10	7	9	15	2	1	1	0	0	1	1	3	3	3	1	5	1	2	2	5	1	4	2			TCGA-DH-A669-01A-12D-A31L-08	TCGA-DH-A669-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	425bf16e-aeb2-453a-932b-b3f59016b041	e849abef-b55e-4124-b760-09101a7c4390	g.chr21:38884668G>A	ENST00000339659.4	+	11	3569	c.2099G>A	c.(2098-2100)cGc>cAc	p.R700H	DYRK1A_ENST00000455387.2_Missense_Mutation_p.R481H|DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.R709H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAATCCCCGCCAAGAGACT	0.488													A	38884668	G	A	38884668	3	1	343	1	0	0	0	0	1	0	0	0	4893	1087	38	1	2252	1	DYRK1A	21	38884668	Missense_Mutation	SNP	G	TCGA-DH-A669-01A-12D-A31L-08		38884668	9245227	59	22517											
EIF4G3	8672	broad.mit.edu	37	chr1	21183987	21183987	+	Frame_Shift_Del	DEL	A	A	-																															caccttcgtccactctctggAcacctgcagggagaacagag																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:21183987delA	ENST00000602326.1	-	23	3681	c.3098delT	c.(3097-3099)gtcfs	p.V1033fs	EIF4G3_ENST00000264211.8_Frame_Shift_Del_p.V1027fs|EIF4G3_ENST00000374935.3_Frame_Shift_Del_p.V747fs|EIF4G3_ENST00000537738.1_Frame_Shift_Del_p.V517fs|EIF4G3_ENST00000536266.1_Frame_Shift_Del_p.V631fs|EIF4G3_ENST00000374937.3_Frame_Shift_Del_p.V1033fs|EIF4G3_ENST00000400422.1_Frame_Shift_Del_p.V1027fs	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1027					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CACTCTCTGGACACCTGCAGG	0.463													-	21183987	A	-	21183987	7	5	344	1	0	1	0	1	0	0	0	0	5079	275	10	0	1729	0	EIF4G3	1	21183987	Frame_Shift_Del	DEL	A	TCGA-DH-A66B-01A-11D-A29Q-08		21183987	228066634	1	22518											
ZNF644	84146	broad.mit.edu	37	chr1	91405999	91405999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatcactaaagcaatcctcGgtataacgagttatcttgct	13	12	7	9	2	2	0	1	0	1	0	4	2	3	0	1	1	3	4	1	1	7	5	rs144274015	byFrequency	TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:91405999G>T	ENST00000370440.1	-	3	1129	c.912C>A	c.(910-912)acC>acA	p.T304T	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Silent_p.T304T			Q9H582	ZN644_HUMAN	zinc finger protein 644	304					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		AGCAATCCTCGGTATAACGAG	0.343													T	91405999	G	T	91405999	2	4	344	1	0	0	0	0	0	0	0	1	18161	1103	39	4		4	ZNF644	1	91405999	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	70222012	91405999	157844622	2	22519											
INSRR	3645	broad.mit.edu	37	chr1	156815851	156815851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtcggtggcttccagCgcaccaggaggtgggaggag	6	6	20	9	2	0	0	0	0	0	0	2	3	1	3	2	7	1	3	2	7	0	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:156815851C>T	ENST00000368195.3	-	9	2267	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	624	Fibronectin type-III 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TGGCTTCCAGCGCACCAGGAG	0.622													T	156815851	C	T	156815851	3	4	344	1	0	0	0	0	1	0	0	0	7832	768	27	1	2077	1	INSRR	1	156815851	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	65409852	156815851	92434770	3	22520											
FCRL2	79368	broad.mit.edu	37	chr1	157738222	157738222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acttctcacagggatattcaCcaccttgctctggataggca	10	11	8	12	0	3	0	2	0	2	0	4	2	3	2	2	3	1	2	2	3	2	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:157738222C>T	ENST00000361516.3	-	5	913	c.865G>A	c.(865-867)Gtg>Atg	p.V289M	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Missense_Mutation_p.V289M	NM_030764.3	NP_110391.2	Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	289	Ig-like C2-type 3.				cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGGATATTCACCACCTTGCTC	0.478													T	157738222	C	T	157738222	3	4	344	1	0	0	0	0	1	0	0	0	5844	507	18	2	693	2	FCRL2	1	157738222	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	922371	157738222	91512399	4	22521											
ABL2	27	broad.mit.edu	37	chr1	179084144	179084144	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccataggtagcaattTcccacaacaataccccaaaa	17	8	3	13	0	0	0	0	0	0	0	2	0	2	0	4	1	3	2	4	1	8	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:179084144T>A	ENST00000502732.1	-	9	1633	c.1430A>T	c.(1429-1431)gAa>gTa	p.E477V	ABL2_ENST00000344730.3_Missense_Mutation_p.E462V|ABL2_ENST00000408940.3_Missense_Mutation_p.E441V|ABL2_ENST00000504405.1_Missense_Mutation_p.E441V|ABL2_ENST00000507173.1_Missense_Mutation_p.E456V|ABL2_ENST00000512653.1_Missense_Mutation_p.E462V|ABL2_ENST00000392043.3_Missense_Mutation_p.E456V|ABL2_ENST00000511413.1_Missense_Mutation_p.E477V|ABL2_ENST00000367623.4_Missense_Mutation_p.E456V	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	477	Protein kinase.				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	GGTAGCAATTTCCCACAACAA	0.378			T	ETV6	AML								A	179084144	T	A	179084144	3	1	344	1	0	0	0	0	1	0	0	0	93	1783	62	5	2179	5	ABL2	1	179084144	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	21345922	179084144	70166477	5	22522											
SLC26A9	115019	broad.mit.edu	37	chr1	205896383	205896383	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggaccagcatggtgaTcatcaccaccagagacacac	13	4	8	16	0	2	2	2	1	0	1	2	4	2	3	5	2	1	1	5	2	0	0			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:205896383T>G	ENST00000367135.3	-	11	1362	c.1249A>C	c.(1249-1251)Atc>Ctc	p.I417L	SLC26A9_ENST00000340781.4_Missense_Mutation_p.I417L|SLC26A9_ENST00000367134.2_Missense_Mutation_p.I417L	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	417						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			AGCATGGTGATCATCACCACC	0.483													G	205896383	T	G	205896383	3	3	344	1	0	0	0	0	1	0	0	0	14618	1435	50	5	1466	5	SLC26A9	1	205896383	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	26812239	205896383	43354238	6	22523											
RD3	343035	broad.mit.edu	37	chr1	211652456	211652456	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccgctccacgtcctcGgagatggtcctgatgtcgct	4	11	12	14	4	0	2	0	1	0	1	6	3	4	2	4	2	0	2	4	2	0	0			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:211652456G>A	ENST00000367002.4	-	3	1673	c.510C>T	c.(508-510)tcC>tcT	p.S170S	RD3_ENST00000484910.1_5'UTR	NM_001164688.1|NM_183059.2	NP_001158160.1|NP_898882.1	Q7Z3Z2	RD3_HUMAN	retinal degeneration 3	170					response to stimulus|visual perception					central_nervous_system(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	10				OV - Ovarian serous cystadenocarcinoma(81;0.00284)|all cancers(67;0.0279)|Epithelial(68;0.0689)		CCACGTCCTCGGAGATGGTCC	0.716													A	211652456	G	A	211652456	2	1	344	1	0	0	0	0	0	0	0	1	13275	1103	39	1		1	RD3	1	211652456	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	5756073	211652456	37598165	7	22524											
CHRM3	1131	broad.mit.edu	37	chr1	240071128	240071128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttcaatgaatctgtttaCgacctacatcatcatgaatc	13	14	4	10	1	4	2	3	2	1	0	5	3	4	2	1	0	2	1	1	0	5	4			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr1:240071128C>T	ENST00000255380.4	+	5	1156	c.377C>T	c.(376-378)aCg>aTg	p.T126M		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	126					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.T126M(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	AATCTGTTTACGACCTACATC	0.468													T	240071128	C	T	240071128	3	4	344	1	0	0	0	0	1	0	0	0	3408	536	19	1	379	1	CHRM3	1	240071128	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	28418672	240071128	9179493	8	22525											
NLRC4	58484	broad.mit.edu	37	chr2	32449596	32449596	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgagatcatcatcatcAaattgccacccaacaagcct	15	8	4	14	0	4	1	4	1	0	1	4	2	4	1	3	0	3	0	3	0	3	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:32449596A>G	ENST00000404025.2	-	10	3509	c.3021T>C	c.(3019-3021)ttT>ttC	p.F1007F	NLRC4_ENST00000360906.5_Silent_p.F1007F|NLRC4_ENST00000402280.1_Silent_p.F1007F|NLRC4_ENST00000342905.6_Silent_p.F342F			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	1007					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CATCATCATCAAATTGCCACC	0.378													G	32449596	A	G	32449596	2	3	344	1	0	0	0	0	0	0	0	1	10545	127	5	3		3	NLRC4	2	32449596	Silent	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		32449596	210749777	9	22526											
IFIH1	64135	broad.mit.edu	37	chr2	163133214	163133214	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctgtgtcatgggtttgaActcactgctgtgtccagctc	6	14	10	11	0	2	1	2	1	0	0	4	1	3	1	2	1	4	3	2	1	2	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:163133214A>C	ENST00000263642.2	-	11	2682	c.2287T>G	c.(2287-2289)Ttc>Gtc	p.F763V		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	763	Helicase C-terminal.				detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATGGGTTTGAACTCACTGCTG	0.398													C	163133214	A	C	163133214	3	2	344	1	0	0	0	0	1	0	0	0	7578	43	2	5	814	5	IFIH1	2	163133214	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08	130683618	163133214	80066159	10	22527											
ATF2	1386	broad.mit.edu	37	chr2	175957831	175957833	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcaagtcttcagctttcttCtctaaagactgaacccagac																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:175957831_175957833delCTC	ENST00000264110.2	-	12	1439_1441	c.1141_1143delGAG	c.(1141-1143)gagdel	p.E381del	ATF2_ENST00000409437.1_In_Frame_Del_p.E265del|ATF2_ENST00000345739.5_In_Frame_Del_p.E323del|ATF2_ENST00000538946.1_In_Frame_Del_p.E363del|ATF2_ENST00000426833.3_In_Frame_Del_p.E363del|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_3'UTR|ATF2_ENST00000392544.1_In_Frame_Del_p.E381del|ATF2_ENST00000409635.1_In_Frame_Del_p.E323del|ATF2_ENST00000392543.2_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2	381	Leucine-zipper.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			CAGCTTTCTTCTCTAAAGACTGA	0.35													-	175957833	CTC	-	175957831	7	5	344	1	0	1	0	1	0	0	0	0	1085	912	32	0	386	0	ATF2	2	175957831	In_Frame_Del	DEL	CTC	TCGA-DH-A66B-01A-11D-A29Q-08	12824617	175957831	67241542	11	22528											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	344	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	33155281	209113112	34086261	12	22529											
CCDC13	152206	broad.mit.edu	37	chr3	42750573	42750573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcctcctcctttccccGcagggcactgcccagggcag	6	7	11	17	1	0	0	0	0	0	0	4	1	4	0	6	2	1	3	6	2	1	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:42750573G>A	ENST00000310232.6	-	16	2130	c.2047C>T	c.(2047-2049)Cgg>Tgg	p.R683W		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	683										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						TCCTTTCCCCGCAGGGCACTG	0.592													A	42750573	G	A	42750573	3	1	344	1	0	0	0	0	1	0	0	0	2791	1086	38	1	104	1	CCDC13	3	42750573	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		42750573	155271857	13	22530											
TRAIP	10293	broad.mit.edu	37	chr3	49867117	49867117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcctaggatggcattcCggacaaaaatagggaaggca	13	7	13	8	1	1	0	0	0	1	0	2	3	2	3	2	6	0	2	2	6	5	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr3:49867117C>T	ENST00000331456.2	-	13	1282	c.1169G>A	c.(1168-1170)cGg>cAg	p.R390Q	TRAIP_ENST00000469027.1_Missense_Mutation_p.R235Q	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	390	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GATGGCATTCCGGACAAAAAT	0.587													T	49867117	C	T	49867117	3	4	344	1	0	0	0	0	1	0	0	0	16549	652	23	1	252	1	TRAIP	3	49867117	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	7116544	49867117	148155313	14	22531											
WDR17	116966	broad.mit.edu	37	chr4	177032847	177032847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgaccctggctatctataTttatcaggtaaaataataat	14	14	6	7	1	2	0	1	0	1	0	2	1	2	0	1	2	1	2	1	2	8	8			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr4:177032847T>C	ENST00000393643.2	+	2	368	c.116T>C	c.(115-117)aTt>aCt	p.I39T	WDR17_ENST00000280190.4_Missense_Mutation_p.I63T|WDR17_ENST00000508596.1_Missense_Mutation_p.I39T|WDR17_ENST00000507824.2_Missense_Mutation_p.I63T	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	63										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		GCTATCTATATTTATCAGGTA	0.343													C	177032847	T	C	177032847	3	2	344	1	0	0	0	0	1	0	0	0	17379	1493	52	3	194	3	WDR17	4	177032847	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08		177032847	14121429	15	22532											
PCDHB4	56131	broad.mit.edu	37	chr5	140502918	140502918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctccgacgtcaatgacaaCgcccccgccttcacccaaac	10	6	6	19	4	3	1	2	1	1	0	4	2	3	1	5	0	2	0	5	0	3	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr5:140502918C>T	ENST00000194152.1	+	1	1338	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		446	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAATGACAACGCCCCCGCCT	0.602													T	140502918	C	T	140502918	2	4	344	1	0	0	0	0	0	0	0	1	11620	535	19	1		1	PCDHB4	5	140502918	Silent	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		140502918	40412342	16	22533											
RGL2	5863	broad.mit.edu	37	chr6	33261741	33261741	+	Frame_Shift_Del	DEL	G	G	-																															gccaaaactcagggacccctGacttttccccctccccttcc																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33261741delG	ENST00000444031.2	-	11	1354	c.1210delC	c.(1210-1212)cagfs	p.Q404fs	RGL2_ENST00000497454.1_Intron|PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_Intron			O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	462	Ras-GEF.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						AGGGACCCCTGACTTTTCCCC	0.542													-	33261741	G	-	33261741	7	5	344	1	0	1	0	1	0	0	0	0	13365	1305	45	0		0	RGL2	6	33261741	Frame_Shift_Del	DEL	G	TCGA-DH-A66B-01A-11D-A29Q-08		33261741	137853326	17	22534											
ITPR3	3710	broad.mit.edu	37	chr6	33632727	33632727	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccattgacatcgaggaggAgcggcccatccggctcatgg	8	6	14	13	3	1	1	1	1	0	0	3	4	2	3	3	5	1	1	3	5	0	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:33632727A>G	ENST00000374316.5	+	13	2289	c.1229A>G	c.(1228-1230)gAg>gGg	p.E410G	ITPR3_ENST00000605930.1_Missense_Mutation_p.E410G			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	410	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ATCGAGGAGGAGCGGCCCATC	0.667													G	33632727	A	G	33632727	3	3	344	1	0	0	0	0	1	0	0	0	7980	304	11	3	1275	3	ITPR3	6	33632727	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08	370986	33632727	137482340	18	22535											
PKHD1	5314	broad.mit.edu	37	chr6	51768522	51768522	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatttccatgtcctgacCagtctaatgtttcaacaaat	12	16	4	9	0	2	1	1	1	1	0	4	1	4	1	3	0	1	1	3	0	5	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr6:51768522C>G	ENST00000371117.3	-	43	7144	c.6869G>C	c.(6868-6870)tGg>tCg	p.W2290S	PKHD1_ENST00000340994.4_Missense_Mutation_p.W2290S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2290					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ATGTCCTGACCAGTCTAATGT	0.393													G	51768522	C	G	51768522	3	3	344	1	0	0	0	0	1	0	0	0	12048	595	21	4	5494	4	PKHD1	6	51768522	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	18135795	51768522	119346545	19	22536											
DNAH11	8701	broad.mit.edu	37	chr7	21824082	21824082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaagtgttccagaaacagaGagaatgtgaagctgacttac	15	9	11	6	0	0	6	0	3	0	3	1	7	1	6	1	0	3	2	1	0	5	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:21824082G>C	ENST00000328843.6	+	59	9573	c.9542G>C	c.(9541-9543)aGa>aCa	p.R3181T	DNAH11_ENST00000409508.3_Missense_Mutation_p.R3174T			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3181	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CAGAAACAGAGAGAATGTGAA	0.413									Kartagener syndrome				C	21824082	G	C	21824082	3	2	344	1	0	0	0	0	1	0	0	0	4638	942	33	4	9773	4	DNAH11	7	21824082	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		21824082	137314581	20	22537											
TNS3	64759	broad.mit.edu	37	chr7	47407972	47407972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcaccttgccgcccGgtggccctgctggggccctc	2	7	12	20	2	1	0	1	0	0	0	2	0	1	0	6	4	3	2	6	4	0	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:47407972G>A	ENST00000398879.1	-	17	2637	c.2271C>T	c.(2269-2271)acC>acT	p.T757T	TNS3_ENST00000311160.9_Silent_p.T757T|TNS3_ENST00000355730.3_Silent_p.T517T			Q68CZ2	TENS3_HUMAN	tensin 3	757						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						CTTGCCGCCCGGTGGCCCTGC	0.632													A	47407972	G	A	47407972	2	1	344	1	0	0	0	0	0	0	0	1	16444	1103	39	1		1	TNS3	7	47407972	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	25583890	47407972	111730691	21	22538											
COBL	23242	broad.mit.edu	37	chr7	51093066	51093066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcctcagaagcagaggatgCcacctggcaatgagatgatt	12	8	11	10	0	1	4	1	2	0	3	2	6	2	5	3	2	2	2	3	2	2	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:51093066C>T	ENST00000395542.2	-	14	3938	c.3754G>A	c.(3754-3756)Gca>Aca	p.A1252T	COBL_ENST00000265136.7_Missense_Mutation_p.A1170T			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1170	WH2 3.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCAGAGGATGCCACCTGGCAA	0.517													T	51093066	C	T	51093066	3	4	344	1	0	0	0	0	1	0	0	0	3684	739	26	2	285	2	COBL	7	51093066	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	3685094	51093066	108045597	22	22539											
CYP3A4	1576	broad.mit.edu	37	chr7	99364768	99364768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttaccttttgtgtatcttCgaggcgactttctttcatcc	5	20	6	10	2	3	0	1	0	2	0	5	2	4	0	2	1	1	1	2	1	2	8			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:99364768C>T	ENST00000354593.2	-	3	437	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	CYP3A4_ENST00000336411.2_Missense_Mutation_p.E262K			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	262					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TGTGTATCTTCGAGGCGACTT	0.308													T	99364768	C	T	99364768	3	4	344	1	0	0	0	0	1	0	0	0	4211	893	31	1	751	1	CYP3A4	7	99364768	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	48271702	99364768	59773895	23	22540											
PTPRZ1	5803	broad.mit.edu	37	chr7	121693973	121693973	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgtagggctattacCagagcaatgaattcatcatt	11	15	9	6	0	2	2	2	1	0	1	2	2	2	2	1	2	2	4	1	2	5	7			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr7:121693973C>T	ENST00000393386.2	+	26	6673	c.6262C>T	c.(6262-6264)Cag>Tag	p.Q2088*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.Q1221*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2088	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GGGCTATTACCAGAGCAATGA	0.403													T	121693973	C	T	121693973	4	4	344	1	0	0	0	0	0	1	0	0	12902	595	21	2	6364	2	PTPRZ1	7	121693973	Nonsense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	22329205	121693973	37444690	24	22541											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	6673270	A	-	6673270	6	5	344	0	1	1	0	1	0	0	0	0	17536	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-DH-A66B-01A-11D-A29Q-08		6673270	139690752	25	22542											
ADAM28	10863	broad.mit.edu	37	chr8	24181517	24181517	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattgctcagttaatcacGtatgtacagattttctccca	11	15	6	9	1	3	1	2	0	1	1	4	2	3	1	1	0	2	4	1	0	4	7	rs138768775		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:24181517G>A	ENST00000265769.4	+	9	1000		c.e9+1		ADAM28_ENST00000540823.1_Splice_Site|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_Splice_Site|ADAM28_ENST00000397649.3_Splice_Site|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Splice_Site	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28						proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AGTTAATCACGTATGTACAGA	0.423													A	24181517	G	A	24181517	5	1	344	1	0	0	0	0	0	0	1	0	246	1159	40	1	925	1	ADAM28	8	24181517	Splice_Site	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	17508247	24181517	122182505	26	22543											
CRISPLD1	83690	broad.mit.edu	37	chr8	75932115	75932115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttcagcaaatatcagTctgctaattccttcacagtc	11	14	4	12	0	4	0	3	0	1	0	6	0	5	0	2	0	3	2	2	0	4	6			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:75932115T>C	ENST00000262207.4	+	11	1606	c.1138T>C	c.(1138-1140)Tct>Cct	p.S380P	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.S194P|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.S192P	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	380	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			CAAATATCAGTCTGCTAATTC	0.333													C	75932115	T	C	75932115	3	2	344	1	0	0	0	0	1	0	0	0	3913	1667	58	3	1176	3	CRISPLD1	8	75932115	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	51750598	75932115	70431907	27	22544											
SCRIB	23513	broad.mit.edu	37	chr8	144886879	144886882	+	Frame_Shift_Del	DEL	GGGA	GGGA	-																															gaggaatgtggcagagggctGggaggaagagggcccccagc																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr8:144886879_144886882delGGGA	ENST00000356994.2	-	21	2871_2874	c.2865_2868delTCCC	c.(2863-2868)cctcccfs	p.PP955fs	SCRIB_ENST00000377533.3_Frame_Shift_Del_p.PP874fs|SCRIB_ENST00000320476.3_Frame_Shift_Del_p.PP955fs	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	955	Interaction with ARHGEF7.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GCAGAGGGCTGGGAGGAAGAGGGC	0.696													-	144886882	GGGA	-	144886879	7	5	344	1	0	1	0	1	0	0	0	0	14030	1335	47	0	2167	0	SCRIB	8	144886879	Frame_Shift_Del	DEL	GGGA	TCGA-DH-A66B-01A-11D-A29Q-08	68954764	144886879	1477143	28	22545											
RGS3	5998	broad.mit.edu	37	chr9	116224037	116224037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttctggatctcaccGtcctgagtgttgtacctgca	5	17	8	11	1	3	1	1	1	3	0	5	2	4	2	3	1	2	3	3	1	1	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116224037G>A	ENST00000374140.2	+	3	340	c.131G>A	c.(130-132)cGt>cAt	p.R44H	RGS3_ENST00000350696.5_Missense_Mutation_p.R44H	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	44					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGATCTCACCGTCCTGAGTGT	0.537													A	116224037	G	A	116224037	3	1	344	1	0	0	0	0	1	0	0	0	13395	1145	40	1	137	1	RGS3	9	116224037	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		116224037	24989394	29	22546											
RGS3	5998	broad.mit.edu	37	chr9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-																															gacccggctttccacgagcaCttcttcttgtaagagtctgg																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													-	116246506	CTT	-	116246504	7	5	344	1	0	1	0	1	0	0	0	0	13395	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-DH-A66B-01A-11D-A29Q-08	22467	116246504	24966927	30	22547											
NOTCH1	4851	broad.mit.edu	37	chr9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgacgtcgatctcgcatCgggggcccgtgtagccctgc	4	9	14	14	6	1	1	0	1	1	0	4	2	1	1	2	2	2	3	2	2	1	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr9:139412302C>A	ENST00000277541.6	-	8	1418	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	448	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139412302	C	A	139412302	3	1	344	1	0	0	0	0	1	0	0	0	10623	884	31	4	6432	4	NOTCH1	9	139412302	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	23165798	139412302	1801129	31	22548											
PCDH15	65217	broad.mit.edu	37	chr10	55581631	55581631	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcaacattacagtgaagtaGattgactgtgagattgtttt	13	14	10	4	0	0	4	0	3	0	2	0	5	0	4	0	0	3	3	0	0	4	6			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr10:55581631G>C	ENST00000361849.3	-	34	6255	c.5861C>G	c.(5860-5862)tCt>tGt	p.S1954C	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.S1912C|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.S1929C|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Missense_Mutation_p.S806C|PCDH15_ENST00000437009.1_Missense_Mutation_p.S1883C|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.S1952C|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.S1949C|PCDH15_ENST00000395446.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1952					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAGTGAAGTAGATTGACTGTG	0.363										HNSCC(58;0.16)			C	55581631	G	C	55581631	3	2	344	1	0	0	0	0	1	0	0	0	11587	942	33	4	1622	4	PCDH15	10	55581631	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		55581631	79953116	32	22549											
OR52M1	119772	broad.mit.edu	37	chr11	4567331	4567331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaccaagcagatccgagAgagccttctccaaataccaa	14	6	7	14	2	1	2	0	0	1	2	4	4	2	2	5	0	3	2	5	0	4	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:4567331A>G	ENST00000360213.1	+	1	911	c.911A>G	c.(910-912)gAg>gGg	p.E304G		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGATCCGAGAGAGCCTTCTC	0.438													G	4567331	A	G	4567331	3	3	344	1	0	0	0	0	1	0	0	0	11202	304	11	3	913	3	OR52M1	11	4567331	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		4567331	130439185	33	22550											
APIP	51074	broad.mit.edu	37	chr11	34909891	34909891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttatcatctcttgaTgtgtaattttaaactcccgt	8	20	4	9	1	2	1	1	1	1	0	5	1	4	1	2	0	1	1	2	0	4	7			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:34909891T>C	ENST00000395787.3	-	5	624	c.410A>G	c.(409-411)cAt>cGt	p.H137R	APIP_ENST00000278359.5_Missense_Mutation_p.H154R|APIP_ENST00000527830.1_5'UTR	NM_015957.2	NP_057041.2	Q96GX9	MTNB_HUMAN	APAF1 interacting protein	137					apoptosis|L-methionine salvage	cytoplasm	identical protein binding|metal ion binding|methylthioribulose 1-phosphate dehydratase activity			kidney(2)|lung(1)|skin(1)	4	all_epithelial(35;0.161)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.000425)			CATCTCTTGATGTGTAATTTT	0.373													C	34909891	T	C	34909891	3	2	344	1	0	0	0	0	1	0	0	0	776	1464	51	3	330	3	APIP	11	34909891	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	30342560	34909891	100096625	34	22551											
OR6Q1	219952	broad.mit.edu	37	chr11	57798711	57798711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggatggtggcaagaataTctcttatgctgattgcctat	9	14	12	6	0	1	2	0	1	1	1	2	3	1	3	1	4	2	2	1	4	5	4			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr11:57798711T>C	ENST00000302622.3	+	1	310	c.287T>C	c.(286-288)aTc>aCc	p.I96T	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				GGCAAGAATATCTCTTATGCT	0.483													C	57798711	T	C	57798711	3	2	344	1	0	0	0	0	1	0	0	0	11284	1435	50	3	289	3	OR6Q1	11	57798711	Missense_Mutation	SNP	T	TCGA-DH-A66B-01A-11D-A29Q-08	22888820	57798711	77207805	35	22552											
COQ5	84274	broad.mit.edu	37	chr12	120947837	120947837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatcaatgtgtgtgaCattccggatcccaaaggcaa	12	10	9	10	1	1	2	1	2	0	0	3	3	3	3	3	2	1	1	3	2	4	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr12:120947837C>T	ENST00000288532.6	-	4	704	c.664G>A	c.(664-666)Gtc>Atc	p.V222I	COQ5_ENST00000445328.2_Missense_Mutation_p.V148I	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	222					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATGTGTGTGACATTCCGGATC	0.433													T	120947837	C	T	120947837	3	4	344	1	0	0	0	0	1	0	0	0	3779	478	17	2	335	2	COQ5	12	120947837	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		120947837	12904058	36	22553											
RXFP2	122042	broad.mit.edu	37	chr13	32371470	32371471	+	Frame_Shift_Del	DEL	TC	TC	-																															ggtggctgttgcaaatcgttTcttttttatagtgttctctg																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:32371470_32371471delTC	ENST00000298386.2	+	17	1990_1991	c.1919_1920delTC	c.(1918-1920)ttcfs	p.F642fs	RXFP2_ENST00000380314.1_Frame_Shift_Del_p.F618fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	642						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GCAAATCGTTTCTTTTTTATAG	0.396													-	32371471	TC	-	32371470	7	5	344	1	0	1	0	1	0	0	0	0	13851	1783	62	0	1985	0	RXFP2	13	32371470	Frame_Shift_Del	DEL	TC	TCGA-DH-A66B-01A-11D-A29Q-08		32371470	82798408	37	22554											
SPRY2	10253	broad.mit.edu	37	chr13	80911693	80911693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtactcattggtgtttcGgatggctctgatctgatcca	6	16	11	8	1	3	2	1	2	2	0	5	3	4	3	1	3	1	3	1	3	1	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr13:80911693G>A	ENST00000377102.1	-	2	1125	c.148C>T	c.(148-150)Cga>Tga	p.R50*	SPRY2_ENST00000540649.1_Nonsense_Mutation_p.R50*|SPRY2_ENST00000377104.3_Nonsense_Mutation_p.R50*			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	50					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		TTGGTGTTTCGGATGGCTCTG	0.612													A	80911693	G	A	80911693	4	1	344	1	0	0	0	0	0	1	0	0	15202	1124	39	1	803	1	SPRY2	13	80911693	Nonsense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	48540223	80911693	34258185	38	22555											
CEBPE	1053	broad.mit.edu	37	chr14	23588124	23588124	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggcgctggcttcacGgcaaagagatcggagagaag	11	5	15	10	3	2	2	2	0	0	2	3	5	2	3	1	4	0	3	1	4	2	1	rs141320203		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:23588124G>A	ENST00000206513.5	-	1	701	c.177C>T	c.(175-177)gcC>gcT	p.A59A		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	59						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		CTGGCTTCACGGCAAAGAGAT	0.647													A	23588124	G	A	23588124	2	1	344	1	0	0	0	0	0	0	0	1	3232	1103	39	1		1	CEBPE	14	23588124	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		23588124	83761416	39	22556											
OTX2	5015	broad.mit.edu	37	chr14	57268721	57268721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggggtcaaatatgatccaCagtccatgcccccaaagtag	13	8	9	11	0	1	1	1	1	0	0	3	1	3	1	4	2	1	1	4	2	5	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr14:57268721C>A	ENST00000339475.5	-	5	902	c.626G>T	c.(625-627)tGt>tTt	p.C209F	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000555006.1_Missense_Mutation_p.C201F|OTX2_ENST00000408990.3_Missense_Mutation_p.C201F	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	201					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ATATGATCCACAGTCCATGCC	0.522													A	57268721	C	A	57268721	3	1	344	1	0	0	0	0	1	0	0	0	11397	478	17	4	271	4	OTX2	14	57268721	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	33680597	57268721	50080819	40	22557											
MAP2K5	5607	broad.mit.edu	37	chr15	67878228	67878228	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttagtcaattactgtttcagCctgcaagcctcctggggaac	9	12	9	11	0	2	0	2	0	0	0	3	1	3	1	3	2	5	2	3	2	5	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:67878228C>T	ENST00000178640.5	+	5	950	c.323C>T	c.(322-324)gCc>gTc	p.A108V	MAP2K5_ENST00000395476.2_Splice_Site_p.A108V|MAP2K5_ENST00000560591.1_3'UTR|MAP2K5_ENST00000354498.5_Splice_Site_p.A72V	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	108					nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						ACTGTTTCAGCCTGCAAGCCT	0.373													T	67878228	C	T	67878228	5	4	344	1	0	0	0	0	0	0	1	0	9315	753	26	2	341	2	MAP2K5	15	67878228	Splice_Site	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08		67878228	34653164	41	22558											
PLIN1	5346	broad.mit.edu	37	chr15	90212791	90212791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctccagggcccgggcCatggtctgcacggtgtatcg	4	8	14	15	3	1	0	0	0	1	0	3	0	2	0	4	4	2	3	4	4	1	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr15:90212791C>T	ENST00000300055.5	-	6	876	c.711G>A	c.(709-711)atG>atA	p.M237I	PLIN1_ENST00000430628.2_Missense_Mutation_p.M237I	NM_002666.4	NP_002657.3	O60240	PLIN1_HUMAN	perilipin 1	237					triglyceride catabolic process	lipid particle	lipid binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(2)	13						GGGCCCGGGCCATGGTCTGCA	0.642													T	90212791	C	T	90212791	3	4	344	1	0	0	0	0	1	0	0	0	12166	594	21	2	873	2	PLIN1	15	90212791	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	22334563	90212791	12318601	42	22559											
WDR24	84219	broad.mit.edu	37	chr16	739166	739166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctgtggcctcacccgagaAggtgctgacagagtcctttc	7	10	11	13	1	2	3	1	1	1	2	4	4	3	3	3	2	1	1	3	2	1	1			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:739166A>T	ENST00000293883.4	-	1	1234	c.475T>A	c.(475-477)Ttc>Atc	p.F159I	WDR24_ENST00000248142.6_Missense_Mutation_p.F221I	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	221										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				TCACCCGAGAAGGTGCTGACA	0.632													T	739166	A	T	739166	3	4	344	1	0	0	0	0	1	0	0	0	17383	72	3	5	1933	5	WDR24	16	739166	Missense_Mutation	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		739166	89615587	43	22560											
ADCY9	115	broad.mit.edu	37	chr16	4165289	4165291	+	In_Frame_Del	DEL	GAG	GAG	-																															ccccagagctgctgcagctaGaggagatgctgtatttgcag																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4165289_4165291delGAG	ENST00000294016.3	-	2	691_693	c.153_155delCTC	c.(151-156)tcctct>tct	p.51_52SS>S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	51					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding	p.S52C(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGCAGCTAGAGGAGATGCTGT	0.665													-	4165291	GAG	-	4165289	7	5	344	1	0	1	0	1	0	0	0	0	301	942	33	0	3946	0	ADCY9	16	4165289	In_Frame_Del	DEL	GAG	TCGA-DH-A66B-01A-11D-A29Q-08	3426123	4165289	86189464	44	22561											
PPL	5493	broad.mit.edu	37	chr16	4935140	4935142	+	In_Frame_Del	DEL	CTC	CTC	-																															cgcacgatctcccgcaccttCtcctgcaccaccactttggc																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:4935140_4935142delCTC	ENST00000345988.2	-	22	3603_3605	c.3514_3516delGAG	c.(3514-3516)gagdel	p.E1172del	PPL_ENST00000590782.2_In_Frame_Del_p.E1170del	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1172					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCCGCACCTTCTCCTGCACCACC	0.635													-	4935142	CTC	-	4935140	7	5	344	1	0	1	0	1	0	0	0	0	12416	912	32	0	1758	0	PPL	16	4935140	In_Frame_Del	DEL	CTC	TCGA-DH-A66B-01A-11D-A29Q-08	769851	4935140	85419613	45	22562											
MYH11	4629	broad.mit.edu	37	chr16	15835445	15835445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcttggccgccagccGcacccgcatctcctcagcct	4	9	8	20	3	3	0	1	0	2	0	4	0	3	0	6	1	3	3	6	1	0	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:15835445G>A	ENST00000452625.2	-	23	2842	c.2755C>T	c.(2755-2757)Cgg>Tgg	p.R919W	AF001548.6_ENST00000577048.1_RNA|MYH11_ENST00000576790.2_Missense_Mutation_p.R912W|MYH11_ENST00000300036.5_Missense_Mutation_p.R912W|MYH11_ENST00000396324.3_Missense_Mutation_p.R919W	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	912					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCGCCAGCCGCACCCGCATC	0.622			T	CBFB	AML								A	15835445	G	A	15835445	3	1	344	1	0	0	0	0	1	0	0	0	10107	1086	38	1	3299	1	MYH11	16	15835445	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	10900305	15835445	74519308	46	22563											
DNAJA2	10294	broad.mit.edu	37	chr16	46991039	46991040	+	Frame_Shift_Del	DEL	CT	CT	-																															cctctgaccacctcctgagcCtcgagtgctatcaaattcct																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr16:46991039_46991040delCT	ENST00000317089.5	-	9	1355_1356	c.1140_1141delAG	c.(1138-1143)cgaggcfs	p.G381fs		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	381					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding	p.R380R(1)		endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				CCTCCTGAGCCTCGAGTGCTAT	0.465													-	46991040	CT	-	46991039	7	5	344	1	0	1	0	1	0	0	0	0	4651	681	24	0	101	0	DNAJA2	16	46991039	Frame_Shift_Del	DEL	CT	TCGA-DH-A66B-01A-11D-A29Q-08	31155594	46991039	43363714	47	22564											
TP53	7157	broad.mit.edu	37	chr17	7576886	7576887	+	Frame_Shift_Ins	INS	-	-	T																															attctccatccagtggtttcINSttctttggctggggagagga																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:7576886_7576887insT	ENST00000420246.2	-	9	1091_1092	c.959_960insA	c.(958-960)aagfs	p.K320fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.K320fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.K320fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	320	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.		K -> N (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.0?(8)|p.K320N(3)|p.K320fs*26(2)|p.P318fs*15(2)|p.P318fs*21(1)|p.S315fs*22(1)|p.?(1)|p.K320fs*25(1)|p.L308fs*15(1)|p.K320K(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)		CCAGTGGTTTCTTCTTTGGCTG	0.46		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)			T	7576887	-	T	7576886	7	5	344	1	0	1	1	0	0	0	0	0	16482	912	32	0	322	0	TP53	17	7576886	Frame_Shift_Ins	INS	-	TCGA-DH-A66B-01A-11D-A29Q-08		7576886	73618324	48	22565											
RHOT1	55288	broad.mit.edu	37	chr17	30520157	30520157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttatgttttttgctagagGatttgtttcaacactccatt	8	21	6	6	0	1	1	1	0	0	1	2	2	2	2	1	1	2	3	1	1	3	9			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:30520157G>T	ENST00000358365.3	+	10	869	c.642G>T	c.(640-642)agG>agT	p.R214S	RHOT1_ENST00000581094.1_Missense_Mutation_p.R214S|RHOT1_ENST00000354266.3_Missense_Mutation_p.R193S|RHOT1_ENST00000394692.2_Missense_Mutation_p.R214S|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000545287.2_Missense_Mutation_p.R214S|RHOT1_ENST00000333942.6_Missense_Mutation_p.R214S|RHOT1_ENST00000583994.1_Missense_Mutation_p.R87S	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	214	EF-hand 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TTTGCTAGAGGATTTGTTTCA	0.333													T	30520157	G	T	30520157	3	4	344	1	0	0	0	0	1	0	0	0	13432	1165	41	4	680	4	RHOT1	17	30520157	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	22943271	30520157	50675053	49	22566											
KIF2B	84643	broad.mit.edu	37	chr17	51902246	51902246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagggaagggatctagcCaatggctggaaaacatccag	13	8	12	8	0	2	0	1	0	1	0	3	3	3	3	2	4	2	1	2	4	5	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr17:51902246C>A	ENST00000268919.4	+	1	2008	c.1852C>A	c.(1852-1854)Caa>Aaa	p.Q618K		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	618					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GGGATCTAGCCAATGGCTGGA	0.443													A	51902246	C	A	51902246	3	1	344	1	0	0	0	0	1	0	0	0	8356	595	21	4	1854	4	KIF2B	17	51902246	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	21382089	51902246	29292964	50	22567											
CACNA1A	773	broad.mit.edu	37	chr19	13318673	13318678	+	In_Frame_Del	DEL	CTGCTG	CTGCTG	-																															cggcccggcctggccaccgcCtgctgctgctgctgctgctg																								rs36208091		TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:13318673_13318678delCTGCTG	ENST00000360228.5	-	47	6969_6974	c.6970_6975delCAGCAG	c.(6970-6975)cagcagdel	p.QQ2324del	CACNA1A_ENST00000573710.2_3'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	2323	Poly-Gln.				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	TGGCCACCGCctgctgctgctgctgc	0.767													-	13318678	CTGCTG	-	13318673	7	5	344	1	0	1	0	1	0	0	0	0	2564	680	24	0	549	0	CACNA1A	19	13318673	In_Frame_Del	DEL	CTGCTG	TCGA-DH-A66B-01A-11D-A29Q-08		13318673	45810310	51	22568											
CYP4F12	66002	broad.mit.edu	37	chr19	15807863	15807863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagggcgggctttggctgCgggtggagcccctgaatgta	5	8	18	10	3	0	1	0	1	0	0	0	3	0	2	3	5	2	3	3	5	2	2			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:15807863C>T	ENST00000550308.1	+	13	1923	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R515W	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					GCTTTGGCTGCGGGTGGAGCC	0.567													T	15807863	C	T	15807863	3	4	344	1	0	0	0	0	1	0	0	0	4220	759	27	1	1589	1	CYP4F12	19	15807863	Missense_Mutation	SNP	C	TCGA-DH-A66B-01A-11D-A29Q-08	2489190	15807863	43321120	52	22569											
ZNF676	163223	broad.mit.edu	37	chr19	22363763	22363763	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattcttcacatttgtaGggtttctctccagtatgaat	9	16	6	10	0	3	1	1	1	2	0	5	1	4	1	2	1	0	3	2	1	3	6			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:22363763G>A	ENST00000397121.2	-	3	1073	c.756C>T	c.(754-756)ccC>ccT	p.P252P		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CACATTTGTAGGGTTTCTCTC	0.373													A	22363763	G	A	22363763	2	1	344	1	0	0	0	0	0	0	0	1	18184	987	35	2		2	ZNF676	19	22363763	Silent	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08	6555900	22363763	36765220	53	22570											
LMTK3	114783	broad.mit.edu	37	chr19	49003052	49003052	+	Frame_Shift_Del	DEL	G	G	-																															ggaagggaccgtctcggggtGggggtggcggcggtgggggc																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr19:49003052delG	ENST00000600059.1	-	11	1501	c.1274delC	c.(1273-1275)ccafs	p.P426fs	LMTK3_ENST00000270238.3_Frame_Shift_Del_p.P455fs					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		GTCTCGGGGTGGGGGTGGCGG	0.716													-	49003052	G	-	49003052	7	5	344	1	0	1	0	1	0	0	0	0	8921	1348	47	0	3128	0	LMTK3	19	49003052	Frame_Shift_Del	DEL	G	TCGA-DH-A66B-01A-11D-A29Q-08	26639289	49003052	10125931	54	22571											
CHAF1B	8208	broad.mit.edu	37	chr21	37775114	37775114	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctttcttccgtagactgaGtttcactcccgacggatctt	6	15	8	12	3	4	2	1	1	3	1	6	4	6	3	2	1	0	2	2	1	1	5			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr21:37775114G>C	ENST00000314103.5	+	8	873	c.722G>C	c.(721-723)aGt>aCt	p.S241T		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						CGTAGACTGAGTTTCACTCCC	0.443													C	37775114	G	C	37775114	3	2	344	1	0	0	0	0	1	0	0	0	3342	1029	36	4	748	4	CHAF1B	21	37775114	Missense_Mutation	SNP	G	TCGA-DH-A66B-01A-11D-A29Q-08		37775114	10354781	55	22572											
MORC2	22880	broad.mit.edu	37	chr22	31330834	31330834	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgactttgggagaaggAacctcccgagggctcttgga	9	10	14	8	1	1	3	0	2	1	1	2	7	2	5	2	4	1	1	2	4	2	3			TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chr22:31330834A>C	ENST00000397641.3	-	19	2535	c.2127T>G	c.(2125-2127)gtT>gtG	p.V709V	MORC2_ENST00000215862.4_Silent_p.V647V			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGGGAGAAGGAACCTCCCGAG	0.552													C	31330834	A	C	31330834	2	2	344	1	0	0	0	0	0	0	0	1	9778	233	9	5		5	MORC2	22	31330834	Silent	SNP	A	TCGA-DH-A66B-01A-11D-A29Q-08		31330834	19973732	56	22573											
ATRX	546	broad.mit.edu	37	chrX	76938097	76938100	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ctgaagagaaagtctctctcTcttgttttctttcagcatca																										TCGA-DH-A66B-01A-11D-A29Q-08	TCGA-DH-A66B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d02d1ca6-f972-4084-be98-3b722f923bc3	622c34d2-eb7d-4cf0-b262-4ce463976d18	g.chrX:76938097_76938100delTCTT	ENST00000373344.5	-	9	2862_2865	c.2648_2651delAAGA	c.(2647-2652)caagagfs	p.QE883fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.QE845fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	883					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)	AGTCTCTCTCTCTTGTTTTCTTTC	0.407			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938100	TCTT	-	76938097	7	5	344	1	0	1	0	1	0	0	0	0	1213	1551	54	0	4935	0	ATRX	23	76938097	Frame_Shift_Del	DEL	TCTT	TCGA-DH-A66B-01A-11D-A29Q-08		76938097	78332463	57	22574											
OR14A16	284532	broad.mit.edu	37	chr1	247978935	247978935	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccatcagggcacacaaatAaatcaacaagaagagaatcg	19	4	7	11	1	2	2	2	0	0	2	3	3	2	2	2	1	1	1	2	1	7	1			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr1:247978935A>G	ENST00000357627.1	-	1	96	c.97T>C	c.(97-99)Tat>Cat	p.Y33H		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	33					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						GCACACAAATAAATCAACAAG	0.368													G	247978935	A	G	247978935	3	3	345	1	0	0	0	0	1	0	0	0	11021	362	13	3	836	3	OR14A16	1	247978935	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08		247978935	1271686	1	22575											
RNASEH1	246243	broad.mit.edu	37	chr2	3599793	3599793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccacgctcggcttcatgTgctttgcatacggctctgcg	4	12	11	14	4	2	0	1	0	1	0	4	0	3	0	1	2	4	6	1	2	1	3			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:3599793T>C	ENST00000315212.3	-	3	705	c.350A>G	c.(349-351)cAc>cGc	p.H117R		NM_002936.3	NP_002927.2	O60930	RNH1_HUMAN	ribonuclease H1	117					RNA catabolic process	cytoplasm	magnesium ion binding|ribonuclease H activity|RNA binding			endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(2)|skin(1)	13	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0713)|Epithelial(75;0.167)|all cancers(51;0.22)		CGGCTTCATGTGCTTTGCATA	0.512													C	3599793	T	C	3599793	3	2	345	1	0	0	0	0	1	0	0	0	13502	1696	59	3	534	3	RNASEH1	2	3599793	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08		3599793	239599580	2	22576											
AFTPH	54812	broad.mit.edu	37	chr2	64778694	64778694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgatgatgatgatgaatttgGggaatttggtgggttttcag	9	16	15	1	0	1	5	1	5	0	0	1	6	1	6	0	4	0	1	0	4	2	4			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:64778694G>A	ENST00000422803.1	+	2	400	c.86G>A	c.(85-87)gGg>gAg	p.G29E	AFTPH_ENST00000409933.1_Missense_Mutation_p.G29E|AFTPH_ENST00000238856.4_Missense_Mutation_p.G29E|AFTPH_ENST00000238855.7_Missense_Mutation_p.G29E			Q6ULP2	AFTIN_HUMAN	aftiphilin	29					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GATGAATTTGGGGAATTTGGT	0.433													A	64778694	G	A	64778694	3	1	345	1	0	0	0	0	1	0	0	0	364	1232	43	2	88	2	AFTPH	2	64778694	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	61178901	64778694	178420679	3	22577											
ALMS1	7840	broad.mit.edu	37	chr2	73677010	73677010	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagtcatctgcctaaagAggctctgaaaatttcagtag	14	10	10	7	0	4	3	2	1	2	2	4	4	4	3	1	1	1	2	1	1	5	3			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:73677010A>C	ENST00000264448.6	+	8	3464	c.3353A>C	c.(3352-3354)gAg>gCg	p.E1118A	ALMS1_ENST00000377715.1_Missense_Mutation_p.E1118A|ALMS1_ENST00000409009.1_Missense_Mutation_p.E1076A	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1118	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CTGCCTAAAGAGGCTCTGAAA	0.468													C	73677010	A	C	73677010	3	2	345	1	0	0	0	0	1	0	0	0	535	304	11	5	3383	5	ALMS1	2	73677010	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	8898316	73677010	169522363	4	22578											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631771	128631771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaacagcctgctgccaacTtgggctcgagtggaggaaca	11	6	12	12	1	0	0	0	0	0	0	1	3	0	2	2	3	6	2	2	3	3	1			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:128631771T>C	ENST00000272647.5	-	3	298	c.38A>G	c.(37-39)aAg>aGg	p.K13R	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.K13R	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	13										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		TGCTGCCAACTTGGGCTCGAG	0.502													C	128631771	T	C	128631771	3	2	345	1	0	0	0	0	1	0	0	0	579	1609	56	3	918	3	AMMECR1L	2	128631771	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	54954761	128631771	114567602	5	22579											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	345	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	80481341	209113112	34086261	6	22580											
ROBO1	6091	broad.mit.edu	37	chr3	78685148	78685148	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctattgaaggttttcaTctcattgattttgttactaa	9	19	8	5	0	2	2	2	2	1	0	3	2	2	2	0	2	1	3	0	2	4	9			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:78685148T>G	ENST00000436010.2	-	21	4028	c.3031A>C	c.(3031-3033)Atg>Ctg	p.M1011L	ROBO1_ENST00000464233.1_Missense_Mutation_p.M1050L|ROBO1_ENST00000495273.1_Missense_Mutation_p.M1005L|ROBO1_ENST00000467549.1_Intron			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1050					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		AAGGTTTTCATCTCATTGATT	0.423													G	78685148	T	G	78685148	3	3	345	1	0	0	0	0	1	0	0	0	13604	1435	50	5	1843	5	ROBO1	3	78685148	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08		78685148	119337282	7	22581											
CEP97	79598	broad.mit.edu	37	chr3	101477057	101477057	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcaagcaacttcagagaAacttcccatgattttaaccc	14	11	4	12	0	2	2	2	1	1	1	4	3	3	2	2	0	4	1	2	0	4	4			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:101477057A>T	ENST00000341893.3	+	9	2359	c.1607A>T	c.(1606-1608)aAa>aTa	p.K536I	CEP97_ENST00000327230.4_Missense_Mutation_p.K536I|CEP97_ENST00000494050.1_Missense_Mutation_p.K477I			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	536	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ACTTCAGAGAAACTTCCCATG	0.393													T	101477057	A	T	101477057	3	4	345	1	0	0	0	0	1	0	0	0	3293	14	1	5	1641	5	CEP97	3	101477057	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	22791909	101477057	96545373	8	22582											
CASR	846	broad.mit.edu	37	chr3	122002556	122002556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccagtgcctgtaacaagtgCccagatgacttctggtccaa	10	9	10	12	0	1	2	0	1	1	1	2	2	2	2	4	1	3	1	4	1	3	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:122002556C>T	ENST00000498619.1	+	7	2223	c.1785C>T	c.(1783-1785)tgC>tgT	p.C595C	CASR_ENST00000296154.5_Silent_p.C585C|CASR_ENST00000490131.1_Silent_p.C585C	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	585					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GTAACAAGTGCCCAGATGACT	0.502													T	122002556	C	T	122002556	2	4	345	1	0	0	0	0	0	0	0	1	2708	747	26	2		2	CASR	3	122002556	Silent	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	20525499	122002556	76019874	9	22583											
ABCF3	55324	broad.mit.edu	37	chr3	183908941	183908941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgagaagttctcgccGccaattctgcagctagatga	9	11	12	9	2	2	3	0	2	2	2	3	4	2	3	2	1	2	4	2	1	3	4			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr3:183908941G>A	ENST00000429586.2	+	16	1652	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	EIF2B5_ENST00000444495.1_Intron|ABCF3_ENST00000292808.5_Silent_p.P483P	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	489							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTTCTCGCCGCCAATTCTGC	0.567													A	183908941	G	A	183908941	2	1	345	1	0	0	0	0	0	0	0	1	67	1074	38	1		1	ABCF3	3	183908941	Silent	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	61906385	183908941	14113489	10	22584											
SRD5A3	79644	broad.mit.edu	37	chr4	56236091	56236091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcagagctgatgatctacGtttccatggccgtcaccttt	8	13	9	11	2	2	3	1	2	1	1	3	3	3	3	3	1	3	3	3	1	2	4			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:56236091G>A	ENST00000264228.4	+	5	1018	c.790G>A	c.(790-792)Gtt>Att	p.V264I	SRD5A3-AS1_ENST00000608086.1_RNA|SRD5A3-AS1_ENST00000595734.1_RNA|SRD5A3-AS1_ENST00000598906.1_RNA|SRD5A3-AS1_ENST00000608265.1_RNA|SRD5A3-AS1_ENST00000609580.1_RNA|SRD5A3-AS1_ENST00000596312.1_RNA|SRD5A3-AS1_ENST00000609051.1_RNA|SRD5A3-AS1_ENST00000609573.1_RNA|SRD5A3-AS1_ENST00000433175.2_RNA|SRD5A3-AS1_ENST00000596289.1_RNA|SRD5A3_ENST00000514398.1_3'UTR|SRD5A3-AS1_ENST00000609500.1_RNA|SRD5A3-AS1_ENST00000595103.1_RNA|SRD5A3-AS1_ENST00000609487.1_RNA|SRD5A3-AS1_ENST00000609700.1_RNA|SRD5A3-AS1_ENST00000510637.1_RNA|SRD5A3-AS1_ENST00000608558.1_RNA	NM_024592.4	NP_078868.1	Q9H8P0	PORED_HUMAN	steroid 5 alpha-reductase 3	264					androgen biosynthetic process|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|polyprenol catabolic process	endoplasmic reticulum membrane|integral to membrane	3-oxo-5-alpha-steroid 4-dehydrogenase activity|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			cervix(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_cancers(7;0.0308)|all_lung(4;0.00195)|Lung NSC(11;0.00431)|all_epithelial(27;0.0425)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.0179)			GATGATCTACGTTTCCATGGC	0.468													A	56236091	G	A	56236091	3	1	345	1	0	0	0	0	1	0	0	0	15236	1145	40	1	808	1	SRD5A3	4	56236091	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		56236091	134918185	11	22585											
SLC10A7	84068	broad.mit.edu	37	chr4	147431125	147431125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaagaaaaagccatattGttgctgggaagaatgcaaga	16	8	12	5	0	0	4	0	1	0	3	0	5	0	5	1	1	3	4	1	1	7	3			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:147431125G>A	ENST00000432059.2	-	3	506	c.260C>T	c.(259-261)aCa>aTa	p.T87I	SLC10A7_ENST00000507030.1_Missense_Mutation_p.T87I|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000264986.3_Intron|SLC10A7_ENST00000335472.7_Missense_Mutation_p.T87I|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000394062.3_Missense_Mutation_p.T87I|SLC10A7_ENST00000394059.4_Missense_Mutation_p.T87I			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	87						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAGCCATATTGTTGCTGGGAA	0.358													A	147431125	G	A	147431125	3	1	345	1	0	0	0	0	1	0	0	0	14473	1377	48	2	847	2	SLC10A7	4	147431125	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	91195034	147431125	43723151	12	22586											
GLRA3	8001	broad.mit.edu	37	chr4	175565136	175565136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttggggccctttggaGtcatgccatcctttgcttgt	3	15	14	9	0	1	0	1	0	0	0	2	1	2	1	3	5	2	2	3	5	0	4			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr4:175565136G>A	ENST00000274093.3	-	10	1698	c.1196C>T	c.(1195-1197)aCt>aTt	p.T399I	GLRA3_ENST00000340217.5_Missense_Mutation_p.T384I	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	399					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GCCCTTTGGAGTCATGCCATC	0.478													A	175565136	G	A	175565136	3	1	345	1	0	0	0	0	1	0	0	0	6512	1029	36	2	202	2	GLRA3	4	175565136	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	28134011	175565136	15589140	13	22587											
SPEF2	79925	broad.mit.edu	37	chr5	35700785	35700785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatacctcttccctctcctGcatttgattttgtcatatta	9	18	3	11	0	3	1	1	1	2	0	5	1	4	1	3	0	2	1	3	0	4	7			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:35700785G>A	ENST00000440995.2	+	16	2314	c.2314G>A	c.(2314-2316)Gca>Aca	p.A772T	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.A772T|SPEF2_ENST00000356031.3_Missense_Mutation_p.A777T			Q9C093	SPEF2_HUMAN	sperm flagellar 2	777					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)			TCCCTCTCCTGCATTTGATTT	0.368													A	35700785	G	A	35700785	3	1	345	1	0	0	0	0	1	0	0	0	15131	1319	46	2	2412	2	SPEF2	5	35700785	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		35700785	145214475	14	22588											
ARSI	340075	broad.mit.edu	37	chr5	149677330	149677330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgttgtgcaggatctccGtgcgtggtgaggcccggccc	5	9	15	12	3	1	1	0	1	1	0	2	2	1	2	3	4	2	2	3	4	1	1			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:149677330G>A	ENST00000328668.7	-	2	1736	c.1157C>T	c.(1156-1158)aCg>aTg	p.T386M		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	386						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGATCTCCGTGCGTGGTGA	0.647													A	149677330	G	A	149677330	3	1	345	1	0	0	0	0	1	0	0	0	999	1145	40	1	556	1	ARSI	5	149677330	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	113976545	149677330	31237930	15	22589											
RNF44	22838	broad.mit.edu	37	chr5	175956358	175956358	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactcggagcagctgccgCgcctcgaagtcactgaagca	10	5	13	13	4	1	1	1	1	0	0	3	4	1	3	2	2	4	3	2	2	2	0	rs145628075		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr5:175956358C>T	ENST00000274811.4	-	10	1691	c.1167G>A	c.(1165-1167)gcG>gcA	p.A389A	RNF44_ENST00000537487.1_Silent_p.A308A	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	389							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCAGCTGCCGCGCCTCGAAGT	0.607													T	175956358	C	T	175956358	2	4	345	1	0	0	0	0	0	0	0	1	13587	755	27	1		1	RNF44	5	175956358	Silent	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	26279028	175956358	4958902	16	22590											
IMPG1	3617	broad.mit.edu	37	chr6	76640749	76640749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctggttccagaccgtccaGgctcccctggctgtcatatc	5	10	10	16	1	1	1	1	0	0	1	5	1	4	1	6	3	0	3	6	3	1	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:76640749G>T	ENST00000369950.3	-	15	2353	c.2164C>A	c.(2164-2166)Ctg>Atg	p.L722M	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	722					visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AGACCGTCCAGGCTCCCCTGG	0.582													T	76640749	G	T	76640749	3	4	345	1	0	0	0	0	1	0	0	0	7786	991	35	4	241	4	IMPG1	6	76640749	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		76640749	94474318	17	22591											
VGLL2	245806	broad.mit.edu	37	chr6	117589627	117589627	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagctgtaccagcagcaaaGcaccaaggagctctgggccc	11	5	11	14	0	1	0	0	0	1	0	1	1	1	1	3	2	6	6	3	2	4	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:117589627G>C	ENST00000326274.5	+	2	554	c.364G>C	c.(364-366)Gca>Cca	p.A122P	VGLL2_ENST00000352536.3_Missense_Mutation_p.A122P	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	122					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CAGCAGCAAAGCACCAAGGAG	0.592													C	117589627	G	C	117589627	3	2	345	1	0	0	0	0	1	0	0	0	17261	971	34	4	370	4	VGLL2	6	117589627	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	40948878	117589627	53525440	18	22592											
SERAC1	84947	broad.mit.edu	37	chr6	158541488	158541488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggggatgcagcacatataCgccatcctgatatttttctt	9	15	8	9	1	1	1	0	1	1	0	2	2	2	2	2	2	3	2	2	2	3	7			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr6:158541488C>T	ENST00000367102.2	-	11	1276	c.1135G>A	c.(1135-1137)Gta>Ata	p.V379I	SERAC1_ENST00000367104.3_Missense_Mutation_p.V379I|SERAC1_ENST00000367101.1_Missense_Mutation_p.V379I			Q96JX3	SRAC1_HUMAN	serine active site containing 1	379					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGCACATATACGCCATCCTGA	0.443													T	158541488	C	T	158541488	3	4	345	1	0	0	0	0	1	0	0	0	14167	536	19	1	857	1	SERAC1	6	158541488	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	40951861	158541488	12573579	19	22593											
CARD11	84433	broad.mit.edu	37	chr7	2968246	2968246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacctgcgatggggcgcGtcctccttgtagcgtctgac	5	9	12	15	4	1	1	0	1	1	0	3	2	3	1	4	2	2	1	4	2	1	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:2968246G>A	ENST00000396946.4	-	13	2143	c.1740C>T	c.(1738-1740)gaC>gaT	p.D580D		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	580					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		GATGGGGCGCGTCCTCCTTGT	0.657			Mis		DLBCL								A	2968246	G	A	2968246	2	1	345	1	0	0	0	0	0	0	0	1	2671	1136	40	1		1	CARD11	7	2968246	Silent	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		2968246	156170417	20	22594											
ING3	54556	broad.mit.edu	37	chr7	120604816	120604816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagatcgacacttgagaaaGctggatcaggaactggctaa	14	8	12	7	1	1	2	1	1	0	2	2	6	1	4	0	3	2	3	0	3	4	3			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr7:120604816G>C	ENST00000315870.5	+	5	436	c.288G>C	c.(286-288)aaG>aaC	p.K96N	ING3_ENST00000431467.1_Missense_Mutation_p.K81N	NM_019071.2	NP_061944.2	Q9NXR8	ING3_HUMAN	inhibitor of growth family, member 3	96					histone H2A acetylation|histone H4 acetylation|positive regulation of apoptosis|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|Piccolo NuA4 histone acetyltransferase complex	zinc ion binding			NS(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	12	all_neural(327;0.117)					ACTTGAGAAAGCTGGATCAGG	0.363													C	120604816	G	C	120604816	3	2	345	1	0	0	0	0	1	0	0	0	7795	962	34	4	322	4	ING3	7	120604816	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	117636570	120604816	38533847	21	22595											
DOCK5	80005	broad.mit.edu	37	chr8	25232090	25232090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgccagatatctgtacAagcttcgagatttgcaccga	10	13	8	10	2	2	2	0	0	2	2	3	4	2	2	2	0	4	3	2	0	3	6			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:25232090A>G	ENST00000276440.7	+	37	3780	c.3736A>G	c.(3736-3738)Aag>Gag	p.K1246E		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1246	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ATATCTGTACAAGCTTCGAGA	0.463													G	25232090	A	G	25232090	3	3	345	1	0	0	0	0	1	0	0	0	4729	131	5	3	3882	3	DOCK5	8	25232090	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08		25232090	121131932	22	22596											
PLAT	5327	broad.mit.edu	37	chr8	42044968	42044968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgtctggcctccgccCgctgtagggcttctgggcca	3	9	15	14	3	2	0	0	0	2	0	3	1	3	0	4	4	0	3	4	4	1	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:42044968C>T	ENST00000220809.4	-	6	743	c.487G>A	c.(487-489)Ggg>Agg	p.G163R	PLAT_ENST00000519510.1_Intron|PLAT_ENST00000429089.2_Missense_Mutation_p.G163R|PLAT_ENST00000270189.6_Missense_Mutation_p.G163R|PLAT_ENST00000524009.1_Intron|PLAT_ENST00000429710.2_Intron|PLAT_ENST00000352041.3_Missense_Mutation_p.G117R	NM_000930.3	NP_000921.1	P00750	TPA_HUMAN	plasminogen activator, tissue	163	Kringle 1.				blood coagulation|fibrinolysis|negative regulation of proteolysis|protein modification process|proteolysis	cell surface|cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.G163R(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|skin(1)|soft_tissue(1)|urinary_tract(1)	27	all_cancers(6;3.84e-26)|all_epithelial(6;9.61e-28)|all_lung(13;7.2e-13)|Lung NSC(13;1.18e-11)|Ovarian(28;0.00438)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000378)|Lung NSC(58;0.00145)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;5.23e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00135)|Colorectal(10;0.00165)|Lung(22;0.00467)|COAD - Colon adenocarcinoma(11;0.0171)|LUSC - Lung squamous cell carcinoma(45;0.024)		Alteplase(DB00009)|Aminocaproic Acid(DB00513)|Anistreplase(DB00029)|Iloprost(DB01088)|Reteplase(DB00015)|Tenecteplase(DB00031)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GGCCTCCGCCCGCTGTAGGGC	0.652													T	42044968	C	T	42044968	3	4	345	1	0	0	0	0	1	0	0	0	12098	652	23	1	1237	1	PLAT	8	42044968	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	16812878	42044968	104319054	23	22597											
TRIM55	84675	broad.mit.edu	37	chr8	67047371	67047372	+	Frame_Shift_Del	DEL	AT	AT	-																															ccaggtggctcccctcactcAtgtgttccagagacagaagg																								rs144861717		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr8:67047371_67047372delAT	ENST00000315962.4	+	3	861_862	c.488_489delAT	c.(487-489)catfs	p.H163fs	TRIM55_ENST00000276573.7_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000353317.5_Frame_Shift_Del_p.H163fs|TRIM55_ENST00000350034.4_Frame_Shift_Del_p.H163fs	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	163						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			CCCCTCACTCATGTGTTCCAGA	0.584													-	67047372	AT	-	67047371	7	5	345	1	0	1	0	1	0	0	0	0	16630	217	8	0	498	0	TRIM55	8	67047371	Frame_Shift_Del	DEL	AT	TCGA-DH-A66D-01A-11D-A31L-08	25002403	67047371	79316651	24	22598											
LINGO2	158038	broad.mit.edu	37	chr9	27949442	27949443	+	Frame_Shift_Ins	INS	-	-	T																															ttcttttcacggattttgggINSttttttgcaggtaaagtaaa																										TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr9:27949442_27949443insT	ENST00000379992.2	-	6	1676_1677	c.1227_1228insA	c.(1225-1230)aaacccfs	p.P410fs	LINGO2_ENST00000308675.3_Frame_Shift_Ins_p.P410fs	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	410	Ig-like C2-type.					integral to membrane		p.P410T(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CGGATTTTGGGTTTTTTGCAGG	0.49													T	27949443	-	T	27949442	7	5	345	1	0	1	1	0	0	0	0	0	8876	1261	44	0	596	0	LINGO2	9	27949442	Frame_Shift_Ins	INS	-	TCGA-DH-A66D-01A-11D-A31L-08		27949442	113263989	25	22599											
FZD8	8325	broad.mit.edu	37	chr10	35929433	35929433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagataatgggccgctccgGgtacttgaagcgctccatgt	9	9	13	10	3	0	2	0	1	0	1	2	3	2	2	3	2	2	3	3	2	4	3			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:35929433G>T	ENST00000374694.1	-	1	929	c.925C>A	c.(925-927)Ccg>Acg	p.P309T		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	309					axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						GGCCGCTCCGGGTACTTGAAG	0.627													T	35929433	G	T	35929433	3	4	345	1	0	0	0	0	1	0	0	0	6188	1232	43	4	1163	4	FZD8	10	35929433	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		35929433	99605314	26	22600											
SORCS1	114815	broad.mit.edu	37	chr10	108489868	108489868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttatttgaccccatcaCagacctaaaaaatggagaaa	16	11	5	9	0	2	3	1	1	1	2	2	4	2	3	3	1	0	0	3	1	5	5			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr10:108489868C>T	ENST00000263054.6	-	6	971	c.964G>A	c.(964-966)Gtg>Atg	p.V322M	SORCS1_ENST00000344440.6_Missense_Mutation_p.V322M	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	322						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		GACCCCATCACAGACCTAAAA	0.403													T	108489868	C	T	108489868	3	4	345	1	0	0	0	0	1	0	0	0	15024	478	17	2	2860	2	SORCS1	10	108489868	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	72560435	108489868	27044879	27	22601											
ACTN3	89	broad.mit.edu	37	chr11	66321928	66321928	+	RNA	DEL	A	A	-																															acatagcaagaccctgtctcAaaaaaaaaaaaaaaagaagt																								rs141435934		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:66321928delA	ENST00000513398.1	+	0	566				ACTN3_ENST00000502692.1_RNA	NM_001104.2	NP_001095.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						accctgtctcaaaaaaaaaaa	0.537													-	66321928	A	-	66321928	6	5	345	0	1	1	0	1	0	0	0	0	206	145	5	0		0	ACTN3	11	66321928	RNA	DEL	A	TCGA-DH-A66D-01A-11D-A31L-08		66321928	68684588	28	22602											
RNF121	55298	broad.mit.edu	37	chr11	71705781	71705781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagttctacagcgagtcggGcatgcctaccaaacatcttt	10	11	8	12	2	3	0	1	0	2	0	4	1	3	0	2	1	5	2	2	1	3	4			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:71705781G>A	ENST00000361756.3	+	7	1005	c.644G>A	c.(643-645)gGc>gAc	p.G215D	RNF121_ENST00000545854.1_Missense_Mutation_p.G134D|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000533380.1_Missense_Mutation_p.G55D|RNF121_ENST00000530137.1_Missense_Mutation_p.G183D|RNF121_ENST00000393713.3_Intron	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	215						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						AGCGAGTCGGGCATGCCTACC	0.493													A	71705781	G	A	71705781	3	1	345	1	0	0	0	0	1	0	0	0	13522	1203	42	2	670	2	RNF121	11	71705781	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	5383853	71705781	63300735	29	22603											
EXPH5	23086	broad.mit.edu	37	chr11	108382992	108382992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctgaaaggactttggaaCattcattcgctgactcagga	12	11	10	8	1	3	2	2	2	1	0	4	5	3	5	0	3	1	1	0	3	2	3			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:108382992C>T	ENST00000265843.4	-	6	3352	c.3242G>A	c.(3241-3243)tGt>tAt	p.C1081Y	EXPH5_ENST00000428840.1_Missense_Mutation_p.C1005Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1074Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C893Y	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1081					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GACTTTGGAACATTCATTCGC	0.433													T	108382992	C	T	108382992	3	4	345	1	0	0	0	0	1	0	0	0	5364	478	17	2	2731	2	EXPH5	11	108382992	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	36677211	108382992	26623524	30	22604											
UBE4A	9354	broad.mit.edu	37	chr11	118235895	118235895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtttgcggcaatccaaaaaGagcagctgaagcaacaatct	16	7	9	9	1	1	2	0	1	1	1	2	2	2	2	1	1	5	5	1	1	6	1			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr11:118235895G>C	ENST00000252108.3	+	2	231	c.100G>C	c.(100-102)Gag>Cag	p.E34Q	UBE4A_ENST00000431736.2_Missense_Mutation_p.E34Q	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	34					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		AATCCAAAAAGAGCAGCTGAA	0.438													C	118235895	G	C	118235895	3	2	345	1	0	0	0	0	1	0	0	0	16984	943	33	4	102	4	UBE4A	11	118235895	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	9852903	118235895	16770621	31	22605											
MRPL51	51258	broad.mit.edu	37	chr12	6601513	6601513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggttgtgcaggtcatcaGcgaacattctacttccaacc	11	11	8	11	1	3	0	2	0	1	0	4	1	4	0	2	2	5	2	2	2	4	5			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:6601513G>A	ENST00000229238.3	-	3	772	c.311C>T	c.(310-312)gCt>gTt	p.A104V	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_Missense_Mutation_p.A8V	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	104					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						CAGGTCATCAGCGAACATTCT	0.438													A	6601513	G	A	6601513	3	1	345	1	0	0	0	0	1	0	0	0	9891	971	34	2	79	2	MRPL51	12	6601513	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		6601513	127250382	32	22606											
ATP2A2	488	broad.mit.edu	37	chr12	110760805	110760805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctaattagttggtgacAaagttcctgctgatataagg	11	14	9	7	0	1	2	0	2	1	0	3	2	2	2	2	2	1	3	2	2	5	6			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr12:110760805A>G	ENST00000308664.6	+	6	1146	c.472A>G	c.(472-474)Aaa>Gaa	p.K158E	ATP2A2_ENST00000539276.2_Missense_Mutation_p.K158E|ATP2A2_ENST00000550248.2_3'UTR|ATP2A2_ENST00000395494.2_Intron	NM_001681.3|NM_170665.3	NP_001672.1|NP_733765.1	P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	158					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AGTTGGTGACAAAGTTCCTGC	0.313													G	110760805	A	G	110760805	3	3	345	1	0	0	0	0	1	0	0	0	1142	131	5	3	494	3	ATP2A2	12	110760805	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	104159292	110760805	23091090	33	22607											
PCDH20	64881	broad.mit.edu	37	chr13	61987149	61987149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttagatgcttgtggaactttCtgactgtaagaataagtaat	13	15	9	4	0	1	3	0	1	1	2	1	4	1	4	0	1	2	3	0	1	6	6			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr13:61987149C>G	ENST00000409186.1	-	5	3188	c.1083G>C	c.(1081-1083)caG>caC	p.Q361H	PCDH20_ENST00000409204.4_Missense_Mutation_p.Q361H			Q8N6Y1	PCD20_HUMAN	protocadherin 20	334	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GTGGAACTTTCTGACTGTAAG	0.433													G	61987149	C	G	61987149	3	3	345	1	0	0	0	0	1	0	0	0	11591	912	32	4	1776	4	PCDH20	13	61987149	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08		61987149	53182729	34	22608											
NEO1	4756	broad.mit.edu	37	chr15	73418883	73418883	+	Frame_Shift_Del	DEL	A	A	-																															ctccaaccattaaatggatgAaaaatgaggaggcacttgac																										TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr15:73418883delA	ENST00000339362.5	+	5	1297	c.850delA	c.(850-852)aaafs	p.K284fs	NEO1_ENST00000261908.6_Frame_Shift_Del_p.K284fs|NEO1_ENST00000558964.1_Frame_Shift_Del_p.K284fs|NEO1_ENST00000560262.1_Frame_Shift_Del_p.K284fs			Q92859	NEO1_HUMAN	neogenin 1	284	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TAAATGGATGAAAAATGAGGA	0.423													-	73418883	A	-	73418883	7	5	345	1	0	1	0	1	0	0	0	0	10412	247	9	0	864	0	NEO1	15	73418883	Frame_Shift_Del	DEL	A	TCGA-DH-A66D-01A-11D-A31L-08		73418883	29112509	35	22609											
TBL3	10607	broad.mit.edu	37	chr16	2024560	2024560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctggtgacagccagtcggGcattgctgctggctcagtgg	5	10	16	10	1	1	1	1	1	0	0	2	1	1	1	1	4	4	5	1	4	0	1			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:2024560G>C	ENST00000568546.1	+	5	387	c.259G>C	c.(259-261)Gca>Cca	p.A87P		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	87					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						AGCCAGTCGGGCATTGCTGCT	0.657													C	2024560	G	C	2024560	3	2	345	1	0	0	0	0	1	0	0	0	15743	1203	42	4	277	4	TBL3	16	2024560	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		2024560	88330193	36	22610											
WFDC1	58189	broad.mit.edu	37	chr16	84328689	84328689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagaatatctggaaacggGcattgcctgcgaggctggcc	10	7	13	11	2	1	1	0	0	1	1	1	3	1	2	3	4	3	2	3	4	4	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:84328689G>A	ENST00000219454.5	+	1	438	c.112G>A	c.(112-114)Gca>Aca	p.A38T	WFDC1_ENST00000568638.1_Missense_Mutation_p.A38T	NM_001282466.1|NM_001282467.1	NP_001269395.1|NP_001269396.1	Q9HC57	WFDC1_HUMAN	WAP four-disulfide core domain 1	38					negative regulation of cell growth	extracellular space	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)	9						CTGGAAACGGGCATTGCCTGC	0.642													A	84328689	G	A	84328689	3	1	345	1	0	0	0	0	1	0	0	0	17448	1203	42	2	114	2	WFDC1	16	84328689	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	82304129	84328689	6026064	37	22611											
SLC7A5	8140	broad.mit.edu	37	chr16	87870115	87870115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggctcaccttgatgggccGctcaagctcaggctttctgt	5	11	12	13	2	4	1	3	1	1	0	4	1	4	1	2	3	1	4	2	3	1	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr16:87870115G>A	ENST00000261622.4	-	8	1344	c.1279C>T	c.(1279-1281)Cgg>Tgg	p.R427W	SLC7A5_ENST00000565644.1_Missense_Mutation_p.R161W	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	427					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		TTGATGGGCCGCTCAAGCTCA	0.622													A	87870115	G	A	87870115	3	1	345	1	0	0	0	0	1	0	0	0	14794	1086	38	1	256	1	SLC7A5	16	87870115	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	3541426	87870115	2484638	38	22612											
TP53	7157	broad.mit.edu	37	chr17	7578407	7578407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcatggtgggggcagcGcctcacaacctccgtcatgt	6	8	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	2	2	3	3	1	0	rs138729528		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:7578407G>C	ENST00000420246.2	-	5	655	c.523C>G	c.(523-525)Cgc>Ggc	p.R175G	TP53_ENST00000455263.2_Missense_Mutation_p.R175G|TP53_ENST00000269305.4_Missense_Mutation_p.R175G|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175G|TP53_ENST00000445888.2_Missense_Mutation_p.R175G|TP53_ENST00000413465.2_Missense_Mutation_p.R175G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(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)		TGGGGGCAGCGCCTCACAACC	0.657		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)			C	7578407	G	C	7578407	3	2	345	1	0	0	0	0	1	0	0	0	16482	1087	38	4	775	4	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		7578407	73616803	39	22613											
IGF2BP1	10642	broad.mit.edu	37	chr17	47126779	47126779	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcatcagaagggacagagTaaccaggcccaggcacggag	14	2	14	11	1	1	2	1	0	0	2	1	4	1	4	2	4	2	3	2	4	2	1			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:47126779T>C	ENST00000290341.3	+	15	2041	c.1707T>C	c.(1705-1707)agT>agC	p.S569S	IGF2BP1_ENST00000431824.2_Silent_p.S430S	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	569	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						AGGGACAGAGTAACCAGGCCC	0.592													C	47126779	T	C	47126779	2	2	345	1	0	0	0	0	0	0	0	1	7631	1635	57	3		3	IGF2BP1	17	47126779	Silent	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	39548372	47126779	34068431	40	22614											
FTSJ3	117246	broad.mit.edu	37	chr17	61901235	61901235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctccccctcgtctgcaatgGaaaccccaggcagatccatc	9	8	7	17	1	2	1	0	0	2	1	6	2	3	2	5	2	2	2	5	2	2	0			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr17:61901235G>T	ENST00000427159.2	-	13	1877	c.1232C>A	c.(1231-1233)tCc>tAc	p.S411Y		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	411					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GTCTGCAATGGAAACCCCAGG	0.572													T	61901235	G	T	61901235	3	4	345	1	0	0	0	0	1	0	0	0	6141	1174	41	4	1347	4	FTSJ3	17	61901235	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	14774456	61901235	19293975	41	22615											
LRRC30	339291	broad.mit.edu	37	chr18	7231999	7231999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggtggaggggggccTggagatgctcttcggctacc	5	8	19	9	1	1	1	0	0	1	1	2	4	1	3	2	8	3	3	2	8	1	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:7231999T>C	ENST00000383467.2	+	1	877	c.863T>C	c.(862-864)cTg>cCg	p.L288P		NM_001105581.1	NP_001099051.1	A6NM36	LRC30_HUMAN	leucine rich repeat containing 30	288										central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GAGGGGGGCCTGGAGATGCTC	0.587													C	7231999	T	C	7231999	3	2	345	1	0	0	0	0	1	0	0	0	9055	1580	55	3	865	3	LRRC30	18	7231999	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08		7231999	70845249	42	22616											
TWSG1	57045	broad.mit.edu	37	chr18	9337233	9337234	+	Frame_Shift_Ins	INS	-	-	T																															ttctttgaagaaacatgaagINSttacactatgttgctgtgct																										TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr18:9337233_9337234insT	ENST00000262120.5	+	2	197_198	c.6_7insT	c.(7-9)ttafs	p.L3fs	TWSG1_ENST00000581641.1_Frame_Shift_Ins_p.L3fs	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	3										breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						GAAACATGAAGTTACACTATGT	0.391													T	9337234	-	T	9337233	7	5	345	1	0	1	1	0	0	0	0	0	16887	1020	36	0	8	0	TWSG1	18	9337233	Frame_Shift_Ins	INS	-	TCGA-DH-A66D-01A-11D-A31L-08	2105234	9337233	68740015	43	22617											
B3GNT3	10331	broad.mit.edu	37	chr19	17918750	17918750	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaccggcgatccccgAggccctggcctggcccactc	5	4	12	20	3	0	0	0	0	0	0	2	2	1	0	7	4	1	1	7	4	0	0			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:17918750A>T	ENST00000318683.6	+	2	281	c.134A>T	c.(133-135)gAg>gTg	p.E45V	B3GNT3_ENST00000595387.1_Missense_Mutation_p.E45V	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	45					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GCGATCCCCGAGGCCCTGGCC	0.682													T	17918750	A	T	17918750	3	4	345	1	0	0	0	0	1	0	0	0	1263	304	11	5	136	5	B3GNT3	19	17918750	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08		17918750	41210233	44	22618											
ZNF761	388561	broad.mit.edu	37	chr19	53946133	53946133	+	RNA	DEL	A	A	-																															tctttaaaaatcatgttgtgAaaaaaaaaatacataatcac																								rs35108555		TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr19:53946133delA	ENST00000454407.1	+	0	55				TPM3P9_ENST00000424846.3_RNA			Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TCATGTTGTGAAAAAAAAAAT	0.348													-	53946133	A	-	53946133	6	5	345	0	1	1	0	1	0	0	0	0	18236	261	9	0		0	ZNF761	19	53946133	RNA	DEL	A	TCGA-DH-A66D-01A-11D-A31L-08	36027383	53946133	5182850	45	22619											
NKX2-2	4821	broad.mit.edu	37	chr20	21492938	21492938	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgacaggtaccgctgctGccgaaagcgccgctccagct	7	5	12	17	6	0	0	0	0	0	0	1	2	1	0	5	1	5	5	5	1	2	1			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr20:21492938G>A	ENST00000377142.4	-	2	801	c.445C>T	c.(445-447)Cag>Tag	p.Q149*	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	149					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TACCGCTGCTGCCGAAAGCGC	0.672													A	21492938	G	A	21492938	4	1	345	1	0	0	0	0	0	1	0	0	10526	1328	46	2	380	2	NKX2-2	20	21492938	Nonsense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		21492938	41532582	46	22620											
MX2	4600	broad.mit.edu	37	chr21	42749758	42749758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagtacgagcagaaggtgCgcccctgcattgacctcatc	9	7	11	14	2	1	2	1	1	0	1	2	3	1	2	4	1	4	3	4	1	2	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:42749758C>T	ENST00000330714.3	+	3	476	c.292C>T	c.(292-294)Cgc>Tgc	p.R98C	MX2_ENST00000543692.1_Missense_Mutation_p.R98C	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	98					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GCAGAAGGTGCGCCCCTGCAT	0.632													T	42749758	C	T	42749758	3	4	345	1	0	0	0	0	1	0	0	0	10074	768	27	1	298	1	MX2	21	42749758	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08		42749758	5380137	47	22621											
MCM3AP	8888	broad.mit.edu	37	chr21	47660773	47660773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctcgacaaacactgcGccaagagctcctcagcagaa	13	5	9	14	2	1	2	1	0	0	2	3	4	2	2	2	0	5	3	2	0	3	0			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chr21:47660773G>A	ENST00000397708.1	-	27	5839	c.5585C>T	c.(5584-5586)gCg>gTg	p.A1862V	MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.A1862V|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1862					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					CAAACACTGCGCCAAGAGCTC	0.512													A	47660773	G	A	47660773	3	1	345	1	0	0	0	0	1	0	0	0	9463	1087	38	1	369	1	MCM3AP	21	47660773	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	4911015	47660773	469122	48	22622											
ARHGAP6	395	broad.mit.edu	37	chrX	11157494	11157494	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggccctgccctccgtcgcgGgggctgcggcctgagtcctc	1	7	16	17	4	0	1	0	1	0	0	4	1	2	1	5	4	2	1	5	4	0	0			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:11157494G>C	ENST00000337414.4	-	13	3286	c.2414C>G	c.(2413-2415)cCc>cGc	p.P805R	ARHGAP6_ENST00000303025.6_Missense_Mutation_p.P602R|ARHGAP6_ENST00000534860.1_Intron|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.P602R	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	805					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTCCGTCGCGGGGGCTGCGGC	0.731													C	11157494	G	C	11157494	3	2	345	1	0	0	0	0	1	0	0	0	890	1232	43	4	514	4	ARHGAP6	23	11157494	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08		11157494	144113066	49	22623											
MBTPS2	51360	broad.mit.edu	37	chrX	21886592	21886592	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctctttccaggtatctgGcataattttgtccttgcact	6	17	6	12	0	2	0	0	0	2	0	5	0	4	0	3	2	1	3	3	2	2	6			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:21886592G>A	ENST00000365779.2	+	6	759	c.678G>A	c.(676-678)tgG>tgA	p.W226*	MBTPS2_ENST00000379484.5_Nonsense_Mutation_p.W226*			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	226			W -> L (in IFAPS; does not affect subcellular localization; impairs activity).		cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CAGGTATCTGGCATAATTTTG	0.433													A	21886592	G	A	21886592	4	1	345	1	0	0	0	0	0	1	0	0	9437	1212	42	2	700	2	MBTPS2	23	21886592	Nonsense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	10729098	21886592	133383968	50	22624											
MED12	9968	broad.mit.edu	37	chrX	70357061	70357061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgtgtggacccataccGtcctgtgcgcttaccaatgc	6	10	9	16	3	0	0	0	0	0	0	2	1	1	1	5	1	4	1	5	1	3	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70357061G>A	ENST00000333646.6	+	39	5775	c.5576G>A	c.(5575-5577)cGt>cAt	p.R1859H	MED12_ENST00000374080.3_Missense_Mutation_p.R1859H|MED12_ENST00000374102.1_Missense_Mutation_p.R1859H	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1859	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GACCCATACCGTCCTGTGCGC	0.567			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70357061	G	A	70357061	3	1	345	1	0	0	0	0	1	0	0	0	9503	1145	40	1	5730	1	MED12	23	70357061	Missense_Mutation	SNP	G	TCGA-DH-A66D-01A-11D-A31L-08	48470469	70357061	84913499	51	22625											
ACRC	93953	broad.mit.edu	37	chrX	70823728	70823728	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattcatccgacgacaacAgtgatgattcatccgacgac	13	9	8	11	4	2	3	2	3	0	0	4	7	4	3	2	0	1	0	2	0	1	2			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:70823728A>T	ENST00000373695.1	+	7	1138	c.601A>T	c.(601-603)Agt>Tgt	p.S201C	ACRC_ENST00000373696.3_Missense_Mutation_p.S201C			Q96QF7	ACRC_HUMAN	acidic repeat containing	201	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CGACGACAACAGTGATGATTC	0.498													T	70823728	A	T	70823728	3	4	345	1	0	0	0	0	1	0	0	0	171	188	7	5	627	5	ACRC	23	70823728	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	466667	70823728	84446832	52	22626											
ATRX	546	broad.mit.edu	37	chrX	76939841	76939841	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatactttattactcttttCactgtcaacttttatcttct	9	22	1	9	0	5	0	2	0	3	0	5	0	5	0	0	0	3	0	0	0	6	10			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:76939841C>A	ENST00000373344.5	-	9	1121	c.907G>T	c.(907-909)Gaa>Taa	p.E303*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.E265*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	303					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)	TTACTCTTTTCACTGTCAACT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939841	C	A	76939841	4	1	345	1	0	0	0	0	0	1	0	0	1213	835	29	4	6679	4	ATRX	23	76939841	Nonsense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	6116113	76939841	78330719	53	22627											
CYLC1	1538	broad.mit.edu	37	chrX	83129568	83129568	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgagccttctctaccaTcaccaaaggtcagacgtctt	9	12	7	13	1	4	2	2	1	2	1	5	2	4	2	3	1	2	0	3	1	2	4			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:83129568T>G	ENST00000329312.4	+	4	1889	c.1852T>G	c.(1852-1854)Tca>Gca	p.S618A		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	618	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCTCTACCATCACCAAAGGT	0.428													G	83129568	T	G	83129568	3	3	345	1	0	0	0	0	1	0	0	0	4174	1435	50	5	1866	5	CYLC1	23	83129568	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	6189727	83129568	72140992	54	22628											
CXorf57	55086	broad.mit.edu	37	chrX	105882865	105882865	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gataattactgctataaagtAtatcccccatagcagtgcga	14	11	7	9	1	0	0	0	0	0	0	1	2	1	0	2	0	4	3	2	0	8	7			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:105882865A>T	ENST00000372548.4	+	9	1791	c.1682A>T	c.(1681-1683)tAt>tTt	p.Y561F	CXorf57_ENST00000372544.2_Intron	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	561										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						GCTATAAAGTATATCCCCCAT	0.418													T	105882865	A	T	105882865	3	4	345	1	0	0	0	0	1	0	0	0	4146	449	16	5	1716	5	CXorf57	23	105882865	Missense_Mutation	SNP	A	TCGA-DH-A66D-01A-11D-A31L-08	22753297	105882865	49387695	55	22629											
CHRDL1	91851	broad.mit.edu	37	chrX	109924807	109924807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctccatgaatacagaCtcatacacaggcatcgtttc	12	10	5	14	1	1	2	1	1	0	1	5	2	3	2	3	1	2	2	3	1	3	3			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:109924807C>G	ENST00000218054.4	-	10	1249	c.1053G>C	c.(1051-1053)gaG>gaC	p.E351D	CHRDL1_ENST00000394797.4_Missense_Mutation_p.E351D|CHRDL1_ENST00000372045.1_Missense_Mutation_p.E345D|CHRDL1_ENST00000434224.1_Missense_Mutation_p.E272D|CHRDL1_ENST00000482160.1_Missense_Mutation_p.E273D|CHRDL1_ENST00000444321.2_Missense_Mutation_p.E352D|CHRDL1_ENST00000372042.1_Missense_Mutation_p.E353D	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	345					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						TGAATACAGACTCATACACAG	0.468													G	109924807	C	G	109924807	3	3	345	1	0	0	0	0	1	0	0	0	3403	564	20	4	329	4	CHRDL1	23	109924807	Missense_Mutation	SNP	C	TCGA-DH-A66D-01A-11D-A31L-08	4041942	109924807	45345753	56	22630											
THOC2	57187	broad.mit.edu	37	chrX	122755191	122755191	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattctgcgttggggacagTggtcttaaatttctcatctt	7	17	10	7	1	4	1	1	1	4	0	5	2	4	2	0	3	1	1	0	3	2	5			TCGA-DH-A66D-01A-11D-A31L-08	TCGA-DH-A66D-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6bbff72-b258-4993-b56f-efcc0402d758	eaa534a9-962f-4807-b35a-a42a5aa30665	g.chrX:122755191T>C	ENST00000245838.8	-	31	4064	c.4033A>G	c.(4033-4035)Act>Gct	p.T1345A	THOC2_ENST00000491737.1_Missense_Mutation_p.T1230A|THOC2_ENST00000355725.4_Missense_Mutation_p.T1345A	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1345	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TTGGGGACAGTGGTCTTAAAT	0.378													C	122755191	T	C	122755191	3	2	345	1	0	0	0	0	1	0	0	0	15965	1696	59	3	780	3	THOC2	23	122755191	Missense_Mutation	SNP	T	TCGA-DH-A66D-01A-11D-A31L-08	12830384	122755191	32515369	57	22631											
PRG4	10216	broad.mit.edu	37	chr1	186277366	186277366	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagcctgcacccactaccCccaagaagcctgctccaact	11	5	7	18	0	0	1	0	0	0	1	1	2	1	2	6	1	6	2	6	1	4	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr1:186277366C>G	ENST00000445192.2	+	7	2560	c.2515C>G	c.(2515-2517)Ccc>Gcc	p.P839A	PRG4_ENST00000367485.4_Missense_Mutation_p.P746A|PRG4_ENST00000367483.4_Missense_Mutation_p.P798A|PRG4_ENST00000367486.3_Missense_Mutation_p.P796A|PRG4_ENST00000367484.3_Missense_Mutation_p.P368A	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	839	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			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						ACCCACTACCCCCAAGAAGCC	0.562													G	186277366	C	G	186277366	3	3	346	1	0	0	0	0	1	0	0	0	12567	623	22	4	2537	4	PRG4	1	186277366	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		186277366	62973255	1	22632											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	346	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		209113112	34086261	2	22633											
ITIH3	3699	broad.mit.edu	37	chr3	52840399	52840399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggcacagtgctgcGccttattcaggatgcagtca	9	8	11	13	1	2	0	2	0	0	0	2	1	2	1	3	2	4	3	3	2	1	2			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr3:52840399G>A	ENST00000449956.2	+	18	2039	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	678					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	p.R678H(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACAGTGCTGCGCCTTATTCAG	0.612													A	52840399	G	A	52840399	3	1	346	1	0	0	0	0	1	0	0	0	7963	1087	38	1	2103	1	ITIH3	3	52840399	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		52840399	145182031	3	22634											
SLC23A1	9963	broad.mit.edu	37	chr5	138713162	138713162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtcagcagcacaatcAgaatctgatccacttcaaga	13	8	8	12	1	4	3	3	1	1	2	5	3	5	3	2	1	2	2	2	1	3	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:138713162A>G	ENST00000353963.3	-	13	1528	c.1490T>C	c.(1489-1491)cTg>cCg	p.L497P	SLC23A1_ENST00000348729.3_Missense_Mutation_p.L493P	NM_152685.3	NP_689898	Q9UHI7	S23A1_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 1	493					brain development|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|response to toxin|transepithelial L-ascorbic acid transport|water-soluble vitamin metabolic process	apical plasma membrane|cytoplasm|integral to plasma membrane|intracellular organelle|membrane fraction	dehydroascorbic acid transporter activity|L-ascorbate:sodium symporter activity|nucleobase transmembrane transporter activity|protein binding|sodium-dependent L-ascorbate transmembrane transporter activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(5)|ovary(1)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		Vitamin C(DB00126)	CAGCACAATCAGAATCTGATC	0.527													G	138713162	A	G	138713162	3	3	346	1	0	0	0	0	1	0	0	0	14556	188	7	3	326	3	SLC23A1	5	138713162	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08		138713162	42202098	4	22635											
LARS	51520	broad.mit.edu	37	chr5	145512473	145512473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattacctggcaaaaactCtatcattgaaagtgctggca	14	10	8	9	0	2	2	1	1	1	1	2	2	2	2	1	2	3	3	1	2	5	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:145512473C>T	ENST00000394434.2	-	23	2550	c.2384G>A	c.(2383-2385)aGa>aAa	p.R795K	LARS_ENST00000545646.1_Missense_Mutation_p.R749K|LARS_ENST00000510191.1_Missense_Mutation_p.R741K|LARS_ENST00000274562.9_Missense_Mutation_p.R768K	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	795					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	GGCAAAAACTCTATCATTGAA	0.403													T	145512473	C	T	145512473	3	4	346	1	0	0	0	0	1	0	0	0	8693	913	32	2	1186	2	LARS	5	145512473	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	6799311	145512473	35402787	5	22636											
GRIA1	2890	broad.mit.edu	37	chr5	153190685	153190685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcggcggcagtggagAgaatggtcgggtggtcagcc	8	5	19	9	3	1	1	1	0	0	1	2	3	1	2	1	6	3	2	1	6	1	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr5:153190685A>G	ENST00000285900.5	+	16	2964	c.2621A>G	c.(2620-2622)gAg>gGg	p.E874G	GRIA1_ENST00000521843.2_Missense_Mutation_p.E805G|GRIA1_ENST00000518783.1_Missense_Mutation_p.E884G|GRIA1_ENST00000518142.1_Missense_Mutation_p.E794G|GRIA1_ENST00000340592.5_Missense_Mutation_p.E874G|GRIA1_ENST00000448073.4_Missense_Mutation_p.E884G	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	874					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCAGTGGAGAGAATGGTCGG	0.577													G	153190685	A	G	153190685	3	3	346	1	0	0	0	0	1	0	0	0	6822	304	11	3	2802	3	GRIA1	5	153190685	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08	7678212	153190685	27724575	6	22637											
ARID1B	57492	broad.mit.edu	37	chr6	157495231	157495231	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagaagaaggcactccaCagcccgagagcaagtcaaag	17	2	11	11	1	1	3	1	0	0	3	2	4	2	3	2	1	2	3	2	1	5	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:157495231C>T	ENST00000346085.5	+	11	3116	c.3115C>T	c.(3115-3117)Cag>Tag	p.Q1039*	ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Q1026*|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Q968*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1026					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGGCACTCCACAGCCCGAGAG	0.522													T	157495231	C	T	157495231	4	4	346	1	0	0	0	0	0	1	0	0	917	479	17	2	3157	2	ARID1B	6	157495231	Nonsense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		157495231	13619836	7	22638											
FNDC1	84624	broad.mit.edu	37	chr6	159653415	159653415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctcctgcccaccacgCgtccacccagggcacctctc	5	6	8	22	2	2	0	0	0	2	0	5	0	3	0	7	2	1	1	7	2	0	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr6:159653415C>T	ENST00000297267.9	+	11	2071	c.1871C>T	c.(1870-1872)gCg>gTg	p.A624V	FNDC1_ENST00000340366.6_Missense_Mutation_p.A561V	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	624						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCCCACCACGCGTCCACCCAG	0.667													T	159653415	C	T	159653415	3	4	346	1	0	0	0	0	1	0	0	0	6017	768	27	1	1913	1	FNDC1	6	159653415	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	2158184	159653415	11461652	8	22639											
LRRC4	64101	broad.mit.edu	37	chr7	127670472	127670472	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggtaccgggtgttcgaGggaataccctgcgggacctc	7	9	15	10	3	0	1	0	1	0	0	2	4	0	3	3	4	3	2	3	4	3	4			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr7:127670472G>A	ENST00000249363.3	-	2	479	c.222C>T	c.(220-222)ccC>ccT	p.P74P	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	74	LRRNT.					cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		GGGTGTTCGAGGGAATACCCT	0.637													A	127670472	G	A	127670472	2	1	346	1	0	0	0	0	0	0	0	1	9067	987	35	2		2	LRRC4	7	127670472	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		127670472	31468191	9	22640											
COL15A1	1306	broad.mit.edu	37	chr9	101832036	101832036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagcatggcgaaccgcGgacacagcggtcacgggact	10	5	15	11	5	1	1	1	1	0	0	1	4	1	3	1	4	3	1	1	4	2	0			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr9:101832036G>A	ENST00000375001.3	+	42	4458	c.4035G>A	c.(4033-4035)gcG>gcA	p.A1345A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	1345	Nonhelical region 10 (NC10).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				GGCGAACCGCGGACACAGCGG	0.537													A	101832036	G	A	101832036	2	1	346	1	0	0	0	0	0	0	0	1	3703	1103	39	1		1	COL15A1	9	101832036	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		101832036	39381395	10	22641											
YME1L1	10730	broad.mit.edu	37	chr10	27420861	27420861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaagccctgttgttgtcCggaagcggactaaagggaag	12	8	13	8	2	1	0	1	0	0	0	2	3	2	3	2	3	2	2	2	3	6	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:27420861C>T	ENST00000326799.3	-	9	1104	c.956G>A	c.(955-957)cGg>cAg	p.R319Q	YME1L1_ENST00000376016.3_Missense_Mutation_p.R262Q|YME1L1_ENST00000375972.3_Missense_Mutation_p.R229Q|YME1L1_ENST00000463270.1_5'UTR	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	319					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R319L(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TGTTGTTGTCCGGAAGCGGAC	0.373													T	27420861	C	T	27420861	3	4	346	1	0	0	0	0	1	0	0	0	17589	652	23	1	1413	1	YME1L1	10	27420861	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		27420861	108113886	11	22642											
ASCC1	51008	broad.mit.edu	37	chr10	73970535	73970535	+	Frame_Shift_Del	DEL	G	G	-																															aagtagaccggaatccttgtGgggtctgctccacctcgtag																										TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:73970535delG	ENST00000342444.4	-	3	268	c.167delC	c.(166-168)ccafs	p.P56fs	ASCC1_ENST00000545550.1_Frame_Shift_Del_p.P78fs|ASCC1_ENST00000492502.2_5'UTR|ASCC1_ENST00000394919.1_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317168.6_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000394915.3_Frame_Shift_Del_p.P56fs|ASCC1_ENST00000317126.4_Frame_Shift_Del_p.P56fs	NM_001198799.2	NP_001185728.1	Q8N9N2	ASCC1_HUMAN	activating signal cointegrator 1 complex subunit 1	56					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	RNA binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	7						GAATCCTTGTGGGGTCTGCTC	0.527													-	73970535	G	-	73970535	7	5	346	1	0	1	0	1	0	0	0	0	1036	1348	47	0	938	0	ASCC1	10	73970535	Frame_Shift_Del	DEL	G	TCGA-DH-A66F-01A-11D-A29Q-08	46549674	73970535	61564212	12	22643											
DNMBP	23268	broad.mit.edu	37	chr10	101731881	101731881	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccactgagccagcctccaTgttttataacctggaaagat	13	10	7	11	0	0	2	0	1	0	1	1	3	1	3	5	1	4	1	5	1	4	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr10:101731881T>C	ENST00000342239.3	-	2	92	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	DNMBP_ENST00000324109.4_Start_Codon_SNP_p.M1V			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		CCAGCCTCCATGTTTTATAAC	0.388													C	101731881	T	C	101731881	1	2	346	1	0	0	0	0	0	0	0	0	4713	1464	51	3		3	DNMBP	10	101731881	Translation_Start_Site	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	27761346	101731881	33802866	13	22644											
HPS5	11234	broad.mit.edu	37	chr11	18339305	18339305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaaattcacctttagaCgactggagtccagccgcagg	12	8	10	11	2	2	2	2	0	0	2	3	4	3	3	3	2	1	1	3	2	3	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr11:18339305C>T	ENST00000349215.3	-	2	378	c.101G>A	c.(100-102)cGt>cAt	p.R34H	HPS5_ENST00000396253.3_Intron|HPS5_ENST00000438420.2_Intron|HPS5_ENST00000531848.1_Intron	NM_181507.1	NP_852608.1	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	34						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CACCTTTAGACGACTGGAGTC	0.463									Hermansky-Pudlak syndrome				T	18339305	C	T	18339305	3	4	346	1	0	0	0	0	1	0	0	0	7397	536	19	1	3376	1	HPS5	11	18339305	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08		18339305	116667211	14	22645											
PLEKHG6	55200	broad.mit.edu	37	chr12	6422805	6422805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccaggatcccagtcGccgacgcctccagcagtatg	7	7	9	18	3	1	0	0	0	1	0	5	2	3	1	6	1	1	2	6	1	1	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr12:6422805G>A	ENST00000449001.2	+	2	547	c.53G>A	c.(52-54)cGc>cAc	p.R18H	PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R50H|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R50H|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.R50H	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	50					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GATCCCAGTCGCCGACGCCTC	0.637													A	6422805	G	A	6422805	3	1	346	1	0	0	0	0	1	0	0	0	12151	1087	38	1	201	1	PLEKHG6	12	6422805	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		6422805	127429090	15	22646											
CREBBP	1387	broad.mit.edu	37	chr16	3832889	3832889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgtgccaacagaaccaaTtgtgttttgaattccactag	11	12	7	11	0	0	2	0	1	0	1	1	2	1	2	4	0	3	1	4	0	5	5			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:3832889T>C	ENST00000262367.5	-	6	2178	c.1369A>G	c.(1369-1371)Att>Gtt	p.I457V	CREBBP_ENST00000382070.3_Missense_Mutation_p.I419V	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	457					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		ACAGAACCAATTGTGTTTTGA	0.488			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						C	3832889	T	C	3832889	3	2	346	1	0	0	0	0	1	0	0	0	3892	1493	52	3	6063	3	CREBBP	16	3832889	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08		3832889	86521864	16	22647											
SLC6A2	6530	broad.mit.edu	37	chr16	55735794	55735794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactggcctatggcatcaCgccagagaacgagcaccacc	12	4	11	14	2	1	2	1	0	0	2	1	5	1	2	4	2	2	2	4	2	2	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr16:55735794C>T	ENST00000379906.2	+	13	2033	c.1778C>T	c.(1777-1779)aCg>aTg	p.T593M	SLC6A2_ENST00000567238.1_Missense_Mutation_p.T488M|SLC6A2_ENST00000561820.1_Intron|SLC6A2_ENST00000568943.1_Missense_Mutation_p.T593M|SLC6A2_ENST00000219833.8_Missense_Mutation_p.T593M|SLC6A2_ENST00000566163.1_Missense_Mutation_p.T548M|SLC6A2_ENST00000414754.3_Missense_Mutation_p.T537M	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	593					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TATGGCATCACGCCAGAGAAC	0.622											OREG0023807	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	55735794	C	T	55735794	3	4	346	1	0	0	0	0	1	0	0	0	14777	536	19	1	1919	1	SLC6A2	16	55735794	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	51902905	55735794	34618959	17	22648											
FXR2	9513	broad.mit.edu	37	chr17	7517826	7517826	+	Frame_Shift_Del	DEL	C	C	-																															gggcagtcccggctccacatCccccccagaggccaggccgc																										TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:7517826delC	ENST00000250113.7	-	1	359	c.25delG	c.(25-27)gatfs	p.D9fs	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576728.1_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	9						cytosolic large ribosomal subunit	protein binding|RNA binding	p.D9fs*27(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GGCTCCACATCCCCCCCAGAG	0.766													-	7517826	C	-	7517826	7	5	346	1	0	1	0	1	0	0	0	0	6168	855	30	0	1964	0	FXR2	17	7517826	Frame_Shift_Del	DEL	C	TCGA-DH-A66F-01A-11D-A29Q-08		7517826	73677384	18	22649											
TRPV2	51393	broad.mit.edu	37	chr17	16321163	16321163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagtcaacctcaactacCgaaagggaacaggtgccagg	15	5	11	10	1	2	1	2	0	0	1	2	3	2	2	3	3	5	0	3	3	6	2			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:16321163C>T	ENST00000338560.7	+	2	580	c.181C>T	c.(181-183)Cga>Tga	p.R61*	TRPV2_ENST00000577397.1_5'UTR	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	61	Required for interaction with SLC50A1 (By similarity).				sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTCAACTACCGAAAGGGAAC	0.597													T	16321163	C	T	16321163	4	4	346	1	0	0	0	0	0	1	0	0	16697	644	23	1	183	1	TRPV2	17	16321163	Nonsense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	8803337	16321163	64874047	19	22650											
UNC13D	201294	broad.mit.edu	37	chr17	73832286	73832286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccagcccctcacctgcaCcatgggttgatggtgctgct	5	10	11	15	0	1	1	1	1	0	0	1	1	1	1	5	2	5	4	5	2	0	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr17:73832286C>T	ENST00000207549.4	-	16	1820	c.1441G>A	c.(1441-1443)Gtg>Atg	p.V481M	UNC13D_ENST00000412096.2_Missense_Mutation_p.V481M	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	481	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCACCTGCACCATGGGTTGA	0.667									Familial Hemophagocytic Lymphohistiocytosis				T	73832286	C	T	73832286	3	4	346	1	0	0	0	0	1	0	0	0	17089	507	18	2	1899	2	UNC13D	17	73832286	Missense_Mutation	SNP	C	TCGA-DH-A66F-01A-11D-A29Q-08	57511123	73832286	7362924	20	22651											
UNC13A	23025	broad.mit.edu	37	chr19	17752214	17752214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtctcacgtcatggcttggTagatggactcgacgccgtag	8	10	13	10	4	2	1	2	0	1	1	4	3	2	2	1	3	0	3	1	3	2	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:17752214T>C	ENST00000428389.2	-	22	2887	c.2888A>G	c.(2887-2889)tAc>tGc	p.Y963C	UNC13A_ENST00000550896.1_Missense_Mutation_p.Y873C|UNC13A_ENST00000252773.7_Missense_Mutation_p.Y875C|UNC13A_ENST00000519716.2_Missense_Mutation_p.Y875C|UNC13A_ENST00000552293.1_Missense_Mutation_p.Y875C|UNC13A_ENST00000551649.1_Missense_Mutation_p.Y875C			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	875					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CATGGCTTGGTAGATGGACTC	0.592													C	17752214	T	C	17752214	3	2	346	1	0	0	0	0	1	0	0	0	17086	1638	57	3	2579	3	UNC13A	19	17752214	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08		17752214	41376769	21	22652											
CIC	23152	broad.mit.edu	37	chr19	42792001	42792001	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccacccagattggaagTggtgcaacaaggaccgaaag	14	4	13	10	1	0	1	0	0	0	1	0	4	0	3	3	4	2	1	3	4	4	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:42792001T>C	ENST00000572681.2	+	7	3600	c.3532T>C	c.(3532-3534)Tgg>Cgg	p.W1178R	CIC_ENST00000575354.2_Missense_Mutation_p.W269R|CIC_ENST00000160740.3_Missense_Mutation_p.W269R			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGATTGGAAGTGGTGCAACAA	0.632			"Mis, F, S"		oligodendroglioma								C	42792001	T	C	42792001	3	2	346	1	0	0	0	0	1	0	0	0	3454	1696	59	3	827	3	CIC	19	42792001	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	25039787	42792001	16336982	22	22653											
KIR2DL1	3802	broad.mit.edu	37	chr19	55285048	55285048	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactccccctatcaggtgTcagctcccagtgaccctctg	6	10	7	18	0	4	1	3	1	1	0	6	1	6	1	4	1	1	1	4	1	1	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr19:55285048T>A	ENST00000336077.6	+	3	374	c.334T>A	c.(334-336)Tca>Aca	p.S112T	KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.S112T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR2DL3_ENST00000434419.2_Intron|KIR3DL1_ENST00000538269.1_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	112					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTATCAGGTGTCAGCTCCCAG	0.522													A	55285048	T	A	55285048	3	1	346	1	0	0	0	0	1	0	0	0	8374	1667	58	5	344	5	KIR2DL1	19	55285048	Missense_Mutation	SNP	T	TCGA-DH-A66F-01A-11D-A29Q-08	12493047	55285048	3843935	23	22654											
FOXS1	2307	broad.mit.edu	37	chr20	30432674	30432674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaaactctcagcctctgaGaagccggcaggaaagccaaa	15	6	9	11	1	2	1	1	1	2	1	3	3	2	2	3	2	4	1	3	2	5	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:30432674G>A	ENST00000375978.3	-	1	746	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	224					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CAGCCTCTGAGAAGCCGGCAG	0.587													A	30432674	G	A	30432674	2	1	346	1	0	0	0	0	0	0	0	1	6086	933	33	2		2	FOXS1	20	30432674	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		30432674	32592846	24	22655											
ZNF335	63925	broad.mit.edu	37	chr20	44578967	44578967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcctcccatcaggactGtgcagccgctggatgtggaa	8	9	12	12	1	1	0	1	0	0	0	3	4	3	3	3	3	2	2	3	3	1	1			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr20:44578967G>C	ENST00000322927.2	-	22	3478	c.3378C>G	c.(3376-3378)caC>caG	p.H1126Q	ZNF335_ENST00000426788.1_Missense_Mutation_p.H971Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CATCAGGACTGTGCAGCCGCT	0.582													C	44578967	G	C	44578967	3	2	346	1	0	0	0	0	1	0	0	0	17953	1368	48	4	678	4	ZNF335	20	44578967	Missense_Mutation	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08	14146293	44578967	18446553	25	22656											
SYNJ1	8867	broad.mit.edu	37	chr21	34038343	34038343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcaaagtggctacagacGaagcaaaggctggttgtatg	13	7	14	7	1	0	1	0	0	0	1	0	2	0	1	0	3	3	7	0	3	5	3			TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chr21:34038343G>A	ENST00000382499.2	-	17	2171	c.2172C>T	c.(2170-2172)ttC>ttT	p.F724F	SYNJ1_ENST00000382491.3_Silent_p.F680F|SYNJ1_ENST00000433931.2_Silent_p.F724F|SYNJ1_ENST00000322229.7_Silent_p.F685F|SYNJ1_ENST00000357345.3_Silent_p.F685F	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	685	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GGCTACAGACGAAGCAAAGGC	0.423													A	34038343	G	A	34038343	2	1	346	1	0	0	0	0	0	0	0	1	15549	1049	37	1		1	SYNJ1	21	34038343	Silent	SNP	G	TCGA-DH-A66F-01A-11D-A29Q-08		34038343	14091552	26	22657											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-DH-A66F-01A-11D-A29Q-08	TCGA-DH-A66F-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56c484b6-1c09-4042-aee7-e4daa419fafe	15eb007e-8c8c-473a-b55e-cfa4b7786432	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	346	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-DH-A66F-01A-11D-A29Q-08		37028425	118242135	27	22658											
RERE	473	broad.mit.edu	37	chr1	8424286	8424286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgcaaagcaggatgttctCccggcctccgtggtgccaat	7	9	13	12	2	1	0	0	0	1	0	3	1	2	1	4	4	3	3	4	4	2	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:8424286C>T	ENST00000337907.3	-	16	2204	c.1570G>A	c.(1570-1572)Gag>Aag	p.E524K	RERE_ENST00000476556.1_5'UTR|RERE_ENST00000377464.1_Missense_Mutation_p.E256K|RERE_ENST00000400908.2_Missense_Mutation_p.E524K|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	524					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AGGATGTTCTCCCGGCCTCCG	0.592													T	8424286	C	T	8424286	3	4	347	1	0	0	0	0	1	0	0	0	13319	864	30	2	3166	2	RERE	1	8424286	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		8424286	240826335	1	22659											
NBPF3	84224	broad.mit.edu	37	chr1	21795209	21795209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacctcttctgccacaaaCgtcagcatggtggtatctgc	8	10	8	15	1	4	0	1	0	3	0	4	0	4	0	3	2	4	2	3	2	2	2			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:21795209C>T	ENST00000318249.5	+	3	512	c.162C>T	c.(160-162)aaC>aaT	p.N54N	NBPF3_ENST00000454000.2_Intron|NBPF3_ENST00000342104.5_Silent_p.N54N|NBPF3_ENST00000318220.6_5'UTR	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	54						cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTGCCACAAACGTCAGCATGG	0.512											OREG0013205	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	21795209	C	T	21795209	2	4	347	1	0	0	0	0	0	0	0	1	10273	535	19	1		1	NBPF3	1	21795209	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	13370923	21795209	227455412	2	22660											
YTHDF2	51441	broad.mit.edu	37	chr1	29069475	29069475	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgcctccagccaccatTgctcctccaaaaccagcatc	10	9	5	17	0	0	0	0	0	0	0	4	0	3	0	7	0	5	3	7	0	2	2			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:29069475T>G	ENST00000373812.3	+	4	1055	c.693T>G	c.(691-693)atT>atG	p.I231M	YTHDF2_ENST00000478283.1_3'UTR|YTHDF2_ENST00000541996.1_Missense_Mutation_p.I181M|YTHDF2_ENST00000542507.1_Missense_Mutation_p.I231M	NM_016258.2	NP_057342.2	Q9Y5A9	YTHD2_HUMAN	YTH domain family, member 2	231					humoral immune response					NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Lung NSC(340;0.000601)|all_lung(284;0.000771)|Breast(348;0.00502)|Renal(390;0.00758)|all_neural(195;0.0227)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;5.46e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0221)|KIRC - Kidney renal clear cell carcinoma(1967;0.0296)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCCACCATTGCTCCTCCAA	0.468													G	29069475	T	G	29069475	3	3	347	1	0	0	0	0	1	0	0	0	17601	1800	63	5	707	5	YTHDF2	1	29069475	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	7274266	29069475	220181146	3	22661											
FLVCR1	28982	broad.mit.edu	37	chr1	213032327	213032327	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgcggctcaccgcccTgctgggctccggcctcaact	4	7	12	18	3	2	0	2	0	0	0	3	0	3	0	5	4	3	3	5	4	1	0			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr1:213032327T>A	ENST00000366971.4	+	1	731	c.533T>A	c.(532-534)cTg>cAg	p.L178Q		NM_014053.3	NP_054772.1	Q9Y5Y0	FLVC1_HUMAN	feline leukemia virus subgroup C cellular receptor 1	178					cell death|cellular iron ion homeostasis|heme export|transmembrane transport	integral to plasma membrane	heme transporter activity|protein binding|receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(2)	12				OV - Ovarian serous cystadenocarcinoma(81;0.00733)|all cancers(67;0.013)|GBM - Glioblastoma multiforme(131;0.0845)|Epithelial(68;0.11)		CTCACCGCCCTGCTGGGCTCC	0.642													A	213032327	T	A	213032327	3	1	347	1	0	0	0	0	1	0	0	0	5994	1580	55	5	535	5	FLVCR1	1	213032327	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	183962852	213032327	36218294	4	22662											
WDR92	116143	broad.mit.edu	37	chr2	68371826	68371826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttacagaatatactggCatctctggagcttctaaatt	11	14	6	10	0	2	1	0	0	2	1	3	2	2	2	1	2	3	2	1	2	6	7			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:68371826C>T	ENST00000295121.6	-	3	422	c.306G>A	c.(304-306)atG>atA	p.M102I	WDR92_ENST00000406245.2_Start_Codon_SNP_p.M1I|WDR92_ENST00000492039.2_5'UTR|RP11-474G23.1_ENST00000406334.3_3'UTR|WDR92_ENST00000409164.1_Missense_Mutation_p.M102I	NM_138458.3	NP_612467.1	Q96MX6	WDR92_HUMAN	WD repeat domain 92	102					apoptosis|histone lysine methylation		methylated histone residue binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(3)|stomach(1)	12						AATATACTGGCATCTCTGGAG	0.363													T	68371826	C	T	68371826	3	4	347	1	0	0	0	0	1	0	0	0	17441	710	25	2	791	2	WDR92	2	68371826	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		68371826	174827547	5	22663											
IL1RL2	8808	broad.mit.edu	37	chr2	102805635	102805635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataacatctggggaagtcaGtgtaacatggtataaaaatt	16	11	9	5	0	2	0	1	0	1	0	2	1	2	1	0	3	2	2	0	3	7	5			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:102805635G>A	ENST00000264257.2	+	3	284	c.158G>A	c.(157-159)aGt>aAt	p.S53N	IL1RL2_ENST00000539491.1_Missense_Mutation_p.S53N|IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	53	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						GGGGAAGTCAGTGTAACATGG	0.388													A	102805635	G	A	102805635	3	1	347	1	0	0	0	0	1	0	0	0	7722	1029	36	2	164	2	IL1RL2	2	102805635	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	34433809	102805635	140393738	6	22664											
SCN2A	6326	broad.mit.edu	37	chr2	166166923	166166923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttctgtctaagcgtgtttgCgctaataggattgcagttgt	7	16	12	6	2	2	0	0	0	2	0	2	1	2	1	0	1	3	5	0	1	3	7			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr2:166166923C>T	ENST00000357398.3	+	7	1078	c.788C>T	c.(787-789)gCg>gTg	p.A263V	SCN2A_ENST00000375427.2_Missense_Mutation_p.A263V|SCN2A_ENST00000375437.2_Missense_Mutation_p.A263V|SCN2A_ENST00000283256.6_Missense_Mutation_p.A263V			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	263			A -> V (in EIEE11).		myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	AGCGTGTTTGCGCTAATAGGA	0.418													T	166166923	C	T	166166923	3	4	347	1	0	0	0	0	1	0	0	0	14009	768	27	1	906	1	SCN2A	2	166166923	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	63361288	166166923	77032450	7	22665											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	347	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	42946189	209113112	34086261	8	22666											
PIK3CB	5291	broad.mit.edu	37	chr3	138474713	138474713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagagtcttcgtgtttcatCttcaagctcctcatatacag	10	14	6	11	1	5	1	3	0	2	1	7	1	6	1	1	0	2	2	1	0	3	5			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr3:138474713C>G	ENST00000477593.1	-	3	353	c.280G>C	c.(280-282)Gat>Cat	p.D94H	PIK3CB_ENST00000289153.2_Missense_Mutation_p.D94H			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	94	PI3K-ABD.				activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CGTGTTTCATCTTCAAGCTCC	0.393													G	138474713	C	G	138474713	3	3	347	1	0	0	0	0	1	0	0	0	11991	913	32	4	3014	4	PIK3CB	3	138474713	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		138474713	59547717	9	22667											
ABCG2	9429	broad.mit.edu	37	chr4	89060981	89060981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctttctcaactggttttCgacaaggtagaaagccactc	10	14	7	10	1	2	1	1	0	2	1	5	2	2	1	1	2	2	2	1	2	4	5			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:89060981C>T	ENST00000237612.3	-	2	712	c.167G>A	c.(166-168)cGa>cAa	p.R56Q	ABCG2_ENST00000515655.1_Missense_Mutation_p.R56Q	NM_004827.2	NP_004818.2	Q9UNQ0	ABCG2_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 2	56	ABC transporter.				cellular iron ion homeostasis|urate metabolic process	integral to membrane|plasma membrane	ATP binding|heme transporter activity|protein homodimerization activity|xenobiotic-transporting ATPase activity			breast(5)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(13)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.02e-05)	Imatinib(DB00619)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nitrendipine(DB01054)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Topotecan(DB01030)	AACTGGTTTTCGACAAGGTAG	0.358													T	89060981	C	T	89060981	3	4	347	1	0	0	0	0	1	0	0	0	69	884	31	1	1860	1	ABCG2	4	89060981	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		89060981	102093295	10	22668											
ZNF827	152485	broad.mit.edu	37	chr4	146823889	146823889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgttcctgcttctcGgccaacttcctggccagaac	6	13	7	15	1	3	1	1	0	2	1	6	1	5	1	4	2	3	2	4	2	2	4			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr4:146823889G>A	ENST00000508784.1	-	2	749	c.522C>T	c.(520-522)gcC>gcT	p.A174A	ZNF827_ENST00000513320.1_Intron|ZNF827_ENST00000379448.4_Silent_p.A174A			Q17R98	ZN827_HUMAN	zinc finger protein 827	174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CCTGCTTCTCGGCCAACTTCC	0.532													A	146823889	G	A	146823889	2	1	347	1	0	0	0	0	0	0	0	1	18279	1103	39	1		1	ZNF827	4	146823889	Silent	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	57762908	146823889	44330387	11	22669											
PAPD7	11044	broad.mit.edu	37	chr5	6738842	6738842	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtctttatcttccaactaGgtgagtaccagactgcatgg	10	12	10	9	0	2	2	0	1	2	1	3	2	3	2	2	3	3	2	2	3	4	5			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:6738842G>A	ENST00000230859.6	+	3	266	c.137G>A	c.(136-138)aGc>aAc	p.S46N		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	46					cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTTCCAACTAGGTGAGTACCA	0.433													A	6738842	G	A	6738842	5	1	347	1	0	0	0	0	0	0	1	0	11502	1014	35	2	143	2	PAPD7	5	6738842	Splice_Site	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08		6738842	174176418	12	22670											
PLK2	10769	broad.mit.edu	37	chr5	57751226	57751226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcattggccaagctctgcGtaatagtgaactgttctata	11	12	10	8	1	2	1	0	1	2	0	2	2	2	1	1	1	4	4	1	1	6	6			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:57751226G>A	ENST00000274289.3	-	12	1941	c.1641C>T	c.(1639-1641)taC>taT	p.Y547Y	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	547	POLO box 1.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGCTCTGCGTAATAGTGAA	0.378													A	57751226	G	A	57751226	2	1	347	1	0	0	0	0	0	0	0	1	12173	1140	40	1		1	PLK2	5	57751226	Silent	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	51012384	57751226	123164034	13	22671											
SLCO6A1	133482	broad.mit.edu	37	chr5	101834424	101834424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgttttttcccgggcttcGaggacttcggggttcccttg	2	15	14	10	3	0	0	0	0	0	0	4	2	2	1	2	5	0	3	2	5	0	7			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:101834424G>A	ENST00000506729.1	-	1	296	c.125C>T	c.(124-126)tCg>tTg	p.S42L	SLCO6A1_ENST00000513675.1_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.S42L|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.S42L			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	42						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCGGGCTTCGAGGACTTCGG	0.577													A	101834424	G	A	101834424	3	1	347	1	0	0	0	0	1	0	0	0	14826	1059	37	1	2086	1	SLCO6A1	5	101834424	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	44083198	101834424	79080836	14	22672											
TRIM41	90933	broad.mit.edu	37	chr5	180651273	180651273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgcgggatgaagactacGagggtgacatggaggaggag	12	5	18	6	2	0	3	0	2	0	1	0	8	0	7	1	5	2	0	1	5	2	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr5:180651273G>A	ENST00000315073.5	+	1	984	c.274G>A	c.(274-276)Gag>Aag	p.E92K	TRIM41_ENST00000351937.5_Missense_Mutation_p.E92K	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	92	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGAAGACTACGAGGGTGACAT	0.617													A	180651273	G	A	180651273	3	1	347	1	0	0	0	0	1	0	0	0	16617	1059	37	1	276	1	TRIM41	5	180651273	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	78816849	180651273	263987	15	22673											
DST	667	broad.mit.edu	37	chr6	56323949	56323949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccacatctgagcacaCggactggatttctgaaatgt	11	12	9	9	1	2	2	0	2	2	0	3	4	3	4	1	2	1	2	1	2	1	2			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:56323949C>G	ENST00000370754.5	-	102	23106	c.23107G>C	c.(23107-23109)Gtg>Ctg	p.V7703L	DST_ENST00000370788.2_Missense_Mutation_p.V5328L|DST_ENST00000361203.3_Missense_Mutation_p.V7414L|DST_ENST00000370769.4_Missense_Mutation_p.V7525L|DST_ENST00000244364.6_Missense_Mutation_p.V5124L|DST_ENST00000446842.2_Missense_Mutation_p.V7199L|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.V5410L			Q03001	DYST_HUMAN	dystonin	7523					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTGAGCACACGGACTGGATT	0.582													G	56323949	C	G	56323949	3	3	347	1	0	0	0	0	1	0	0	0	4822	536	19	4	149	4	DST	6	56323949	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		56323949	114791118	16	22674											
COL19A1	1310	broad.mit.edu	37	chr6	70866564	70866564	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtattgtctttttagggAagcaaaggagagcggggcta	12	11	14	4	1	1	1	0	0	1	1	1	3	1	2	0	4	2	3	0	4	6	6			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr6:70866564A>G	ENST00000322773.4	+	34	2343	c.2241A>G	c.(2239-2241)ggA>ggG	p.G747G	COL19A1_ENST00000393344.1_Silent_p.G369G	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	747	Triple-helical region 4 (COL4).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTTTTTAGGGAAGCAAAGGAG	0.378													G	70866564	A	G	70866564	2	3	347	1	0	0	0	0	0	0	0	1	3707	233	9	3		3	COL19A1	6	70866564	Silent	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08	14542615	70866564	100248503	17	22675											
PDGFRL	5157	broad.mit.edu	37	chr8	17486008	17486008	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagagaaaggagaacTctttgtaccttctcccagct	10	12	8	11	0	2	2	0	0	2	2	3	4	2	2	2	1	4	3	2	1	3	4			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:17486008T>A	ENST00000541323.1	+	5	963	c.518T>A	c.(517-519)cTc>cAc	p.L173H	PDGFRL_ENST00000251630.6_Missense_Mutation_p.L173H|PDGFRL_ENST00000398074.3_Missense_Mutation_p.L173H	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	173						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		AAAGGAGAACTCTTTGTACCT	0.498													A	17486008	T	A	17486008	3	1	347	1	0	0	0	0	1	0	0	0	11739	1551	54	5	532	5	PDGFRL	8	17486008	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08		17486008	128878014	18	22676											
DOCK5	80005	broad.mit.edu	37	chr8	25132947	25132947	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttgaaagaggcaactgtgGaagacctggggtaagttcca	13	9	13	6	0	0	3	0	1	0	2	1	4	1	4	2	4	1	3	2	4	4	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:25132947G>C	ENST00000276440.7	+	4	258	c.214G>C	c.(214-216)Gaa>Caa	p.E72Q	DOCK5_ENST00000481100.1_Missense_Mutation_p.E72Q	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	72						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGCAACTGTGGAAGACCTGGG	0.348													C	25132947	G	C	25132947	3	2	347	1	0	0	0	0	1	0	0	0	4729	1175	41	4	228	4	DOCK5	8	25132947	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	7646939	25132947	121231075	19	22677											
SHARPIN	81858	broad.mit.edu	37	chr8	145154909	145154909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagtgtggaggcttccgggGgactgggcagggagacaggg	7	6	22	6	1	0	2	0	1	0	1	1	5	1	4	1	7	0	2	1	7	0	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr8:145154909G>A	ENST00000398712.2	-	3	876	c.440C>T	c.(439-441)cCc>cTc	p.P147L	SHARPIN_ENST00000533948.1_5'UTR	NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	147	Self-association (By similarity).				negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCTTCCGGGGGACTGGGCAG	0.617													A	145154909	G	A	145154909	3	1	347	1	0	0	0	0	1	0	0	0	14361	1232	43	2	747	2	SHARPIN	8	145154909	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	120021962	145154909	1209113	20	22678											
IFNA14	3448	broad.mit.edu	37	chr9	21239548	21239548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcaggggagtctcttcCaccccaacctcctgtatcac	8	11	6	16	0	4	0	3	0	1	0	7	1	6	1	5	2	1	1	5	2	2	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:21239548C>T	ENST00000380222.2	-	1	430	c.387G>A	c.(385-387)gtG>gtA	p.V129V		NM_002172.2	NP_002163.2	P01570	IFN14_HUMAN	interferon, alpha 14	129					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)	11				Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GAGTCTCTTCCACCCCAACCT	0.453													T	21239548	C	T	21239548	2	4	347	1	0	0	0	0	0	0	0	1	7592	581	21	2		2	IFNA14	9	21239548	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		21239548	119973883	21	22679											
EDF1	8721	broad.mit.edu	37	chr9	139757897	139757897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttgttctggccagcaGcccctggagtcggtgtgagg	4	12	16	9	1	1	1	0	1	1	0	2	2	1	2	3	4	2	4	3	4	0	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr9:139757897G>T	ENST00000371648.4	-	3	141	c.134C>A	c.(133-135)gCt>gAt	p.A45D	EDF1_ENST00000371649.1_Missense_Mutation_p.A45D|EDF1_ENST00000224073.1_Missense_Mutation_p.A45D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	45	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CTGGCCAGCAGCCCCTGGAGT	0.542													T	139757897	G	T	139757897	3	4	347	1	0	0	0	0	1	0	0	0	4953	971	34	4	359	4	EDF1	9	139757897	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	118518349	139757897	1455534	22	22680											
CUBN	8029	broad.mit.edu	37	chr10	16982104	16982104	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgacccacagggtatgTccaacgatggaagaataatt	15	9	9	8	1	1	2	0	1	1	1	2	4	2	3	2	2	1	1	2	2	6	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:16982104T>C	ENST00000377833.4	-	37	5540	c.5475A>G	c.(5473-5475)ggA>ggG	p.G1825G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1825	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACAGGGTATGTCCAACGATGG	0.473													C	16982104	T	C	16982104	2	2	347	1	0	0	0	0	0	0	0	1	4084	1654	58	3		3	CUBN	10	16982104	Silent	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08		16982104	118552643	23	22681											
LCOR	84458	broad.mit.edu	37	chr10	98715304	98715304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgttagatgctggaccCgattcttggggctcagatgc	8	11	13	9	1	2	2	1	0	1	2	2	4	2	3	1	3	3	4	1	3	1	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr10:98715304C>T	ENST00000540664.1	+	8	1470	c.927C>T	c.(925-927)ccC>ccT	p.P309P	LCOR_ENST00000371097.4_Silent_p.P309P|LCOR_ENST00000356016.3_Silent_p.P309P|LCOR_ENST00000498444.1_Intron|LCOR_ENST00000371103.3_Silent_p.P309P	NM_001170765.1|NM_001170766.1	NP_001164236.1|NP_001164237.1			ligand dependent nuclear receptor corepressor											endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|urinary_tract(1)	13		Colorectal(252;0.162)		Epithelial(162;4.43e-09)|all cancers(201;2.96e-07)		ATGCTGGACCCGATTCTTGGG	0.478													T	98715304	C	T	98715304	2	4	347	1	0	0	0	0	0	0	0	1	8748	639	23	1		1	LCOR	10	98715304	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	81733200	98715304	36819443	24	22682											
OR52N1	79473	broad.mit.edu	37	chr11	5809859	5809859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaagggcaaggaagAcatacataggtctgtgtaag	17	6	14	4	0	1	2	0	0	1	2	1	4	1	4	0	4	1	2	0	4	7	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:5809859A>T	ENST00000317078.1	-	1	187	c.188T>A	c.(187-189)gTc>gAc	p.V63D	TRIM5_ENST00000380027.1_Intron	NM_001001913.1	NP_001001913.1	Q8NH53	O52N1_HUMAN	olfactory receptor, family 52, subfamily N, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(15)|prostate(2)|skin(3)	31		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		GGCAAGGAAGACATACATAGG	0.448													T	5809859	A	T	5809859	3	4	347	1	0	0	0	0	1	0	0	0	11203	275	10	5	777	5	OR52N1	11	5809859	Missense_Mutation	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08		5809859	129196657	25	22683											
OR4C15	81309	broad.mit.edu	37	chr11	55322005	55322005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactttcacagaatccaaatGttcaggaaatagtatttgtt	14	14	7	6	0	2	1	2	0	0	1	3	3	3	2	1	1	0	3	1	1	5	6			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:55322005G>A	ENST00000314644.2	+	1	223	c.223G>A	c.(223-225)Gtt>Att	p.V75I		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GAATCCAAATGTTCAGGAAAT	0.408										HNSCC(20;0.049)			A	55322005	G	A	55322005	3	1	347	1	0	0	0	0	1	0	0	0	11124	1377	48	2	225	2	OR4C15	11	55322005	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	49512146	55322005	79684511	26	22684											
LRRC55	219527	broad.mit.edu	37	chr11	56950115	56950115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcaccatggaacccCtgctgaagtggctgcgaaac	9	7	13	12	1	0	1	0	1	0	0	0	3	0	2	3	3	5	4	3	3	3	0			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:56950115C>A	ENST00000497933.1	+	1	895	c.748C>A	c.(748-750)Ctg>Atg	p.L250M		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	220	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						CATGGAACCCCTGCTGAAGTG	0.622													A	56950115	C	A	56950115	3	1	347	1	0	0	0	0	1	0	0	0	9081	680	24	4	750	4	LRRC55	11	56950115	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	1628110	56950115	78056401	27	22685											
TCIRG1	10312	broad.mit.edu	37	chr11	67816592	67816592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggagacgctgccggAgctcaccttcctgctgggac	5	8	14	14	2	1	1	1	0	0	1	2	4	2	3	3	3	4	5	3	3	0	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr11:67816592A>G	ENST00000265686.3	+	15	1826	c.1718A>G	c.(1717-1719)gAg>gGg	p.E573G	TCIRG1_ENST00000532635.1_Missense_Mutation_p.E357G	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	573					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						ACGCTGCCGGAGCTCACCTTC	0.662													G	67816592	A	G	67816592	3	3	347	1	0	0	0	0	1	0	0	0	15803	304	11	3	1772	3	TCIRG1	11	67816592	Missense_Mutation	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08	10866477	67816592	67189924	28	22686											
PDE3A	5139	broad.mit.edu	37	chr12	20801759	20801759	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcatttccgtttccttgtCattgaagcaattttggccac	9	15	7	10	1	1	1	1	1	0	0	3	1	3	1	3	1	2	3	3	1	3	6			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:20801759C>T	ENST00000359062.3	+	13	2743	c.2703C>T	c.(2701-2703)gtC>gtT	p.V901V	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	901	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GTTTCCTTGTCATTGAAGCAA	0.398													T	20801759	C	T	20801759	2	4	347	1	0	0	0	0	0	0	0	1	11713	813	29	2		2	PDE3A	12	20801759	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		20801759	113050136	29	22687											
SLCO1B3	28234	broad.mit.edu	37	chr12	21054391	21054391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtaggatatataattccGtattttttgggtaagttgtc	9	19	9	4	1	0	0	0	0	0	0	2	1	1	1	1	2	0	4	1	2	6	12			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:21054391G>A	ENST00000381545.3	+	15	2074	c.1855G>A	c.(1855-1857)Gta>Ata	p.V619I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.V619I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.V619I|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.V619I|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	619					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					ATATAATTCCGTATTTTTTGG	0.338													A	21054391	G	A	21054391	3	1	347	1	0	0	0	0	1	0	0	0	14818	1145	40	1	1905	1	SLCO1B3	12	21054391	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	252632	21054391	112797504	30	22688											
NCKAP1L	3071	broad.mit.edu	37	chr12	54925286	54925286	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactacagaagctggtggtGgaaaacatggacatacttgt	13	9	13	6	0	0	1	0	0	0	1	0	4	0	4	0	5	4	1	0	5	5	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:54925286G>T	ENST00000293373.6	+	24	2695	c.2616G>T	c.(2614-2616)gtG>gtT	p.V872V	NCKAP1L_ENST00000545638.2_Silent_p.V822V	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	872					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						AGCTGGTGGTGGAAAACATGG	0.498													T	54925286	G	T	54925286	2	4	347	1	0	0	0	0	0	0	0	1	10298	1335	47	4		4	NCKAP1L	12	54925286	Silent	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	33870895	54925286	78926609	31	22689											
KIF5A	3798	broad.mit.edu	37	chr12	57960998	57960998	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatgtggctgtcaccagTgagtgaggatacaaggggat	10	9	15	7	1	2	2	2	2	0	0	2	4	2	4	1	4	1	1	1	4	2	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr12:57960998T>C	ENST00000455537.2	+	7	863		c.e7+2		KIF5A_ENST00000286452.5_Splice_Site	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A						blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CTGTCACCAGTGAGTGAGGAT	0.522													C	57960998	T	C	57960998	5	2	347	1	0	0	0	0	0	0	1	0	8363	1710	59	3	617	3	KIF5A	12	57960998	Splice_Site	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	3035712	57960998	75890897	32	22690											
OR10G3	26533	broad.mit.edu	37	chr14	22038354	22038354	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagaagaagtaatccacCtgattgggcccacagtaggg	13	7	11	10	0	1	3	1	1	0	2	2	3	2	3	3	2	0	2	3	2	4	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:22038354C>A	ENST00000303532.1	-	1	521	c.522G>T	c.(520-522)caG>caT	p.Q174H		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		AGTAATCCACCTGATTGGGCC	0.572													A	22038354	C	A	22038354	3	1	347	1	0	0	0	0	1	0	0	0	10976	680	24	4	422	4	OR10G3	14	22038354	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		22038354	85311186	33	22691											
AKAP6	9472	broad.mit.edu	37	chr14	33291625	33291625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcaagtgcatctcatgaaAtggatcgcatttcatataaa	14	12	8	7	1	2	1	2	1	1	0	4	2	2	2	0	2	1	3	0	2	5	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr14:33291625A>G	ENST00000280979.4	+	13	4776	c.4606A>G	c.(4606-4608)Atg>Gtg	p.M1536V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1536					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		ATCTCATGAAATGGATCGCAT	0.358													G	33291625	A	G	33291625	3	3	347	1	0	0	0	0	1	0	0	0	455	101	4	3	4652	3	AKAP6	14	33291625	Missense_Mutation	SNP	A	TCGA-DH-A66G-01A-21D-A31L-08	11253271	33291625	74057915	34	22692											
PDILT	204474	broad.mit.edu	37	chr16	20396116	20396116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcctttgcccatgatcTccacagctttgcccagctct	5	14	6	16	0	3	1	0	1	3	0	4	1	3	1	4	0	5	2	4	0	0	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:20396116T>C	ENST00000302451.4	-	3	508	c.260A>G	c.(259-261)gAg>gGg	p.E87G		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	87					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCCATGATCTCCACAGCTTT	0.502													C	20396116	T	C	20396116	3	2	347	1	0	0	0	0	1	0	0	0	11750	1551	54	3	1534	3	PDILT	16	20396116	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08		20396116	69958637	35	22693											
SLC12A3	6559	broad.mit.edu	37	chr16	56913501	56913501	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgatcacggctggcatCttcggggccaccctctcctc	4	9	9	19	2	3	1	1	1	2	0	6	1	3	1	5	4	0	2	5	4	0	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:56913501C>A	ENST00000438926.2	+	11	1412	c.1383C>A	c.(1381-1383)atC>atA	p.I461I	SLC12A3_ENST00000262502.5_Silent_p.I460I|SLC12A3_ENST00000563236.1_Silent_p.I461I|SLC12A3_ENST00000566786.1_Silent_p.I460I	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	461					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	CGGCTGGCATCTTCGGGGCCA	0.657													A	56913501	C	A	56913501	2	1	347	1	0	0	0	0	0	0	0	1	14478	903	32	4		4	SLC12A3	16	56913501	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	36517385	56913501	33441252	36	22694											
CDH16	1014	broad.mit.edu	37	chr16	66943887	66943887	+	Splice_Site	DEL	A	A	-																															ctgcacccaagcccaatctcAcctcgaaccaggagctgcca																										TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:66943887delA	ENST00000299752.4	-	16	2469		c.e16+1		CDH16_ENST00000568632.1_Splice_Site|CDH16_ENST00000394055.3_Splice_Site|CDH16_ENST00000570262.1_Splice_Site|CDH16_ENST00000565796.1_Splice_Site	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin						homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		GCCCAATCTCACCTCGAACCA	0.597													-	66943887	A	-	66943887	8	5	347	1	0	1	0	1	0	0	1	0	3131	173	6	0	224	0	CDH16	16	66943887	Splice_Site	DEL	A	TCGA-DH-A66G-01A-21D-A31L-08	10030386	66943887	23410866	37	22695											
AGRP	181	broad.mit.edu	37	chr16	67517001	67517001	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcttcagtggggccCgcaggcccaggcctggggca	4	9	15	13	1	3	0	1	0	2	0	3	0	3	0	3	6	0	2	3	6	0	3			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:67517001C>A	ENST00000290953.2	-	3	442	c.143G>T	c.(142-144)cGg>cTg	p.R48L	RP11-297D21.4_ENST00000602596.1_RNA	NM_001138.1	NP_001129.1	O00253	AGRP_HUMAN	agouti related protein homolog (mouse)	48					hormone-mediated signaling pathway|neuropeptide signaling pathway|regulation of feeding behavior	extracellular space|Golgi lumen	neuropeptide hormone activity			endometrium(1)	1		Acute lymphoblastic leukemia(13;0.00263)|all_hematologic(13;0.0274)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0717)|Epithelial(162;0.16)		CAGTGGGGCCCGCAGGCCCAG	0.592													A	67517001	C	A	67517001	3	1	347	1	0	0	0	0	1	0	0	0	398	652	23	4	263	4	AGRP	16	67517001	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	573114	67517001	22837752	38	22696											
PLA2G15	23659	broad.mit.edu	37	chr16	68288858	68288858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccagggccacccagttTcctgatggtgtggatgtacg	8	10	12	11	1	0	1	0	1	0	0	2	2	2	2	4	3	1	2	4	3	1	2			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr16:68288858T>C	ENST00000413021.2	+	2	287	c.164T>C	c.(163-165)tTc>tCc	p.F55S	PLA2G15_ENST00000219345.5_Silent_p.F107F|PLA2G15_ENST00000566188.1_Silent_p.F107F|PLA2G15_ENST00000444212.2_Intron			Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	0					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CCACCCAGTTTCCTGATGGTG	0.542													C	68288858	T	C	68288858	3	2	347	1	0	0	0	0	1	0	0	0	12069	1780	62	3	331	3	PLA2G15	16	68288858	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	771857	68288858	22065895	39	22697											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179D|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			C	7578395	G	C	7578395	3	2	347	1	0	0	0	0	1	0	0	0	16482	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08		7578395	73616815	40	22698											
CSHL1	1444	broad.mit.edu	37	chr17	61988150	61988150	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtaggtgtcaatggccaGctggtgtgcgcgatgggctt	5	11	17	8	2	1	0	1	0	0	0	1	1	1	0	1	5	2	3	1	5	2	2			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr17:61988150G>C	ENST00000392824.4	-	2	206	c.145C>G	c.(145-147)Ctg>Gtg	p.L49V	CSHL1_ENST00000309894.5_Missense_Mutation_p.L49V|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000561003.1_Intron|CSHL1_ENST00000450719.3_Intron|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000558099.1_5'UTR			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	49						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCAATGGCCAGCTGGTGTGCG	0.572													C	61988150	G	C	61988150	3	2	347	1	0	0	0	0	1	0	0	0	3975	962	34	4	539	4	CSHL1	17	61988150	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	54409755	61988150	19207060	41	22699											
NLRP11	204801	broad.mit.edu	37	chr19	56303709	56303709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaacagcaagggaaacGtcacatgcaacactccgtaa	16	6	9	10	2	1	0	1	0	0	0	2	2	2	2	1	2	5	3	1	2	5	2			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr19:56303709G>A	ENST00000443188.1	-	9	3181	c.2471C>T	c.(2470-2472)aCg>aTg	p.T824M	NLRP11_ENST00000589093.1_Missense_Mutation_p.T824M|NLRP11_ENST00000592953.1_Missense_Mutation_p.T725M|NLRP11_ENST00000360133.3_Missense_Mutation_p.T770M|NLRP11_ENST00000589824.2_Missense_Mutation_p.T770M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	824							ATP binding	p.T824M(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CAAGGGAAACGTCACATGCAA	0.488													A	56303709	G	A	56303709	3	1	347	1	0	0	0	0	1	0	0	0	10549	1145	40	1	646	1	NLRP11	19	56303709	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08		56303709	2825274	42	22700											
SLC12A5	57468	broad.mit.edu	37	chr20	44650446	44650447	+	Frame_Shift_Ins	INS	-	-	C																															cctcgctgccccccgcagggINScccgccagaagccctgaccc																										TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr20:44650446_44650447insC	ENST00000454036.2	+	1	91_92	c.42_43insC	c.(43-45)cccfs	p.P15fs	RP11-465L10.10_ENST00000535913.1_RNA	NM_001134771.1	NP_001128243.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5						potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CCCCCGCAGGGCCCGCCAGAAG	0.723													C	44650447	-	C	44650446	7	5	347	1	0	1	1	0	0	0	0	0	14480	1190	42	0	44	0	SLC12A5	20	44650446	Frame_Shift_Ins	INS	-	TCGA-DH-A66G-01A-21D-A31L-08		44650446	18375074	43	22701											
AP1B1	162	broad.mit.edu	37	chr22	29727519	29727519	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgatgttgttcttcacggCcacctaggcacaagggggtc	8	10	12	11	2	2	0	1	0	1	0	4	1	2	0	2	4	0	3	2	4	2	4			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chr22:29727519C>G	ENST00000357586.2	-	19	2629	c.2443G>C	c.(2443-2445)Gcc>Ccc	p.A815P	AP1B1_ENST00000415447.1_Missense_Mutation_p.A808P|AP1B1_ENST00000405198.1_Missense_Mutation_p.A815P|AP1B1_ENST00000402502.1_Missense_Mutation_p.A808P|AP1B1_ENST00000472057.1_5'UTR|AP1B1_ENST00000432560.2_Missense_Mutation_p.A808P|AP1B1_ENST00000356015.2_Missense_Mutation_p.A808P|AP1B1_ENST00000317368.7_Missense_Mutation_p.A788P	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	815					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TTCTTCACGGCCACCTAGGCA	0.577													G	29727519	C	G	29727519	3	3	347	1	0	0	0	0	1	0	0	0	733	739	26	4	426	4	AP1B1	22	29727519	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08		29727519	21577047	44	22702											
ZFX	7543	broad.mit.edu	37	chrX	24228669	24228669	+	Frame_Shift_Del	DEL	G	G	-																															aatacgagacagctgaacaaGggttattgaatcgccacctc																										TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:24228669delG	ENST00000379177.1	+	11	2021	c.1594delG	c.(1594-1596)gggfs	p.G532fs	ZFX_ENST00000304543.5_Frame_Shift_Del_p.G532fs|ZFX_ENST00000540034.1_Frame_Shift_Del_p.G571fs|ZFX_ENST00000539115.1_Frame_Shift_Del_p.G303fs|ZFX_ENST00000338565.3_Frame_Shift_Del_p.G482fs|ZFX_ENST00000379188.3_Frame_Shift_Del_p.G532fs	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGCTGAACAAGGGTTATTGAA	0.438													-	24228669	G	-	24228669	7	5	347	1	0	1	0	1	0	0	0	0	17762	1000	35	0	1679	0	ZFX	23	24228669	Frame_Shift_Del	DEL	G	TCGA-DH-A66G-01A-21D-A31L-08		24228669	131041891	45	22703											
FAM47C	442444	broad.mit.edu	37	chrX	37029041	37029041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacatcgagaaaactccGtgacttcaagtgggctggag	13	7	11	10	2	1	2	1	1	0	1	3	4	2	3	1	2	1	1	1	2	3	1			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:37029041G>A	ENST00000358047.3	+	1	2610	c.2558G>A	c.(2557-2559)cGt>cAt	p.R853H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	853										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AGAAAACTCCGTGACTTCAAG	0.458													A	37029041	G	A	37029041	3	1	347	1	0	0	0	0	1	0	0	0	5622	1145	40	1	2560	1	FAM47C	23	37029041	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	12800372	37029041	118241519	46	22704											
BCOR	54880	broad.mit.edu	37	chrX	39933903	39933903	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcagactggagaatacagCggctgggccaagctgtagga	11	6	16	8	1	0	2	0	0	0	2	0	4	0	3	1	4	4	4	1	4	4	2			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:39933903C>A	ENST00000342274.4	-	4	1058	c.696G>T	c.(694-696)ccG>ccT	p.P232P	BCOR_ENST00000378444.4_Silent_p.P232P|BCOR_ENST00000378455.4_Silent_p.P232P|BCOR_ENST00000397354.3_Silent_p.P232P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	232					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAATACAGCGGCTGGGCCA	0.562			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39933903	C	A	39933903	2	1	347	1	0	0	0	0	0	0	0	1	1391	755	27	4		4	BCOR	23	39933903	Silent	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	2904862	39933903	115336657	47	22705											
ATRX	546	broad.mit.edu	37	chrX	76875862	76875865	+	Splice_Site	DEL	CACT	CACT	-																															taatcagagatattaactcaCactcaattaggttattttga																								rs141240580		TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:76875862_76875865delCACT	ENST00000373344.5	-	20	5484_5487	c.5270_5273delAGTG	c.(5269-5274)gagtgt>gt	p.EC1757fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.EC1719fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1757	Helicase ATP-binding.				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.?(2)		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)	TATTAACTCACACTCAATTAGGTT	0.309			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76875865	CACT	-	76875862	8	5	347	1	0	1	0	1	0	0	1	0	1213	492	17	0	2269	0	ATRX	23	76875862	Splice_Site	DEL	CACT	TCGA-DH-A66G-01A-21D-A31L-08	36941959	76875862	78394698	48	22706											
DOCK11	139818	broad.mit.edu	37	chrX	117700016	117700016	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcaagatgttagataaaTatagccattatctggctgct	14	13	7	7	0	2	2	1	0	1	2	2	2	2	2	1	1	3	3	1	1	8	5			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:117700016T>A	ENST00000276204.6	+	8	816	c.742T>A	c.(742-744)Tat>Aat	p.Y248N	DOCK11_ENST00000276202.7_Missense_Mutation_p.Y248N			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	248	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						GTTAGATAAATATAGCCATTA	0.378													A	117700016	T	A	117700016	3	1	347	1	0	0	0	0	1	0	0	0	4725	1406	49	5	772	5	DOCK11	23	117700016	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	40824154	117700016	37570544	49	22707											
USP26	83844	broad.mit.edu	37	chrX	132160726	132160726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtagcctactgaatgagTgcactccaacggaagtcttg	11	10	11	9	1	1	2	0	2	1	0	2	3	2	3	2	2	4	2	2	2	6	4			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:132160726T>C	ENST00000511190.1	-	6	1992	c.1523A>G	c.(1522-1524)cAc>cGc	p.H508R	USP26_ENST00000406273.1_Missense_Mutation_p.H508R|USP26_ENST00000370832.1_Missense_Mutation_p.H508R	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	508					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ACTGAATGAGTGCACTCCAAC	0.383													C	132160726	T	C	132160726	3	2	347	1	0	0	0	0	1	0	0	0	17159	1696	59	3	1221	3	USP26	23	132160726	Missense_Mutation	SNP	T	TCGA-DH-A66G-01A-21D-A31L-08	14460710	132160726	23109834	50	22708											
ARHGEF6	9459	broad.mit.edu	37	chrX	135750295	135750295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccttcttgatttcagttCttcttccaggcattgcttca	5	18	6	12	0	5	1	2	1	3	0	7	1	7	1	2	1	1	3	2	1	0	8			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:135750295C>T	ENST00000250617.6	-	22	3429	c.2224G>A	c.(2224-2226)Gaa>Aaa	p.E742K	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E588K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E588K|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E615K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	742					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GATTTCAGTTCTTCTTCCAGG	0.458													T	135750295	C	T	135750295	3	4	347	1	0	0	0	0	1	0	0	0	913	922	32	2	110	2	ARHGEF6	23	135750295	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	3589569	135750295	19520265	51	22709											
SLITRK2	84631	broad.mit.edu	37	chrX	144905825	144905825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taattctgggattgcttgttGttttcatcttatctgtctgt	5	22	8	6	0	5	0	1	0	4	0	5	1	5	1	0	1	1	3	0	1	2	8			TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:144905825G>T	ENST00000370490.1	+	1	6137	c.1882G>T	c.(1882-1884)Gtt>Ttt	p.V628F	SLITRK2_ENST00000434188.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000447897.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000428560.2_Missense_Mutation_p.V628F|SLITRK2_ENST00000413937.2_Missense_Mutation_p.V628F			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	628						integral to membrane		p.V628L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					ATTGCTTGTTGTTTTCATCTT	0.453													T	144905825	G	T	144905825	3	4	347	1	0	0	0	0	1	0	0	0	14837	1377	48	4	1884	4	SLITRK2	23	144905825	Missense_Mutation	SNP	G	TCGA-DH-A66G-01A-21D-A31L-08	9155530	144905825	10364735	52	22710											
F8	2157	broad.mit.edu	37	chrX	154132780	154132780	+	Missense_Mutation	SNP	C	C	A																															ccagaaggggtccaatcaggCctgagtgcacatctttttcc																										TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132780C>A	ENST00000360256.4	-	17	5806	c.5606G>T	c.(5605-5607)gGc>gTc	p.G1869V		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCAATCAGGCCTGAGTGCAC	0.448													A	154132780	C	A	154132780	3	1	347	1	0	0	0	0	1	0	0	0	5392	739	26	4	1517	4	F8	23	154132780	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	9226955	154132780	1137780	53	22711	36	2									
F8	2157	broad.mit.edu	37	chrX	154132781	154132781	+	Missense_Mutation	SNP	C	C	A																															cagaaggggtccaatcaggcCtgagtgcacatctttttcct																										TCGA-DH-A66G-01A-21D-A31L-08	TCGA-DH-A66G-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a04b1e34-63a2-4af2-9dcf-75c053559bb4	8f36933c-d6f1-4061-a9f8-85fcd0fb88fe	g.chrX:154132781C>A	ENST00000360256.4	-	17	5805	c.5605G>T	c.(5605-5607)Ggc>Tgc	p.G1869C		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1869	F5/8 type A 3.|Plastocyanin-like 5.		G -> D (in HEMA; severe).|G -> V (in HEMA; severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CCAATCAGGCCTGAGTGCACA	0.453													A	154132781	C	A	154132781	3	1	347	1	0	0	0	0	1	0	0	0	5392	681	24	4	1518	4	F8	23	154132781	Missense_Mutation	SNP	C	TCGA-DH-A66G-01A-21D-A31L-08	1	154132781	1137779	54	22712	36	2									
PARK7	11315	broad.mit.edu	37	chr1	8037767	8037767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagtaaagttacaacacaCcctcttgctaaagacaaaat	18	8	6	9	0	1	1	0	0	1	1	1	2	1	2	1	1	3	3	1	1	9	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:8037767C>T	ENST00000493678.1	+	6	445	c.378C>T	c.(376-378)caC>caT	p.H126H	PARK7_ENST00000377493.5_Silent_p.H106H|PARK7_ENST00000377491.1_Silent_p.H126H|PARK7_ENST00000377488.1_Silent_p.H126H|PARK7_ENST00000338639.5_Silent_p.H126H			Q99497	PARK7_HUMAN	parkinson protein 7	126					autophagy|cell death|cellular response to hydrogen peroxide|inflammatory response|mitochondrion organization|negative regulation of cell death|negative regulation of protein binding|neuroprotection|protein stabilization|regulation of androgen receptor signaling pathway|regulation of inflammatory response|single fertilization	mitochondrion|nucleus	mRNA binding|peptidase activity|peroxidase activity|protein homodimerization activity			large_intestine(1)	1	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;1.28e-70)|GBM - Glioblastoma multiforme(8;3.05e-36)|Colorectal(212;6.83e-08)|COAD - Colon adenocarcinoma(227;7.51e-06)|Kidney(185;5.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000414)|KIRC - Kidney renal clear cell carcinoma(229;0.000967)|STAD - Stomach adenocarcinoma(132;0.00102)|READ - Rectum adenocarcinoma(331;0.0649)		TTACAACACACCCTCTTGCTA	0.373													T	8037767	C	T	8037767	2	4	348	1	0	0	0	0	0	0	0	1	11526	506	18	2		2	PARK7	1	8037767	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		8037767	241212854	1	22713											
TNFRSF8	943	broad.mit.edu	37	chr1	12144582	12144582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctactatgacaaggctgtcaGgaggtgctgttaccgctgcc	8	10	12	11	1	1	1	1	1	0	0	1	2	1	2	2	3	4	4	2	3	4	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:12144582G>A	ENST00000263932.2	+	2	347	c.125G>A	c.(124-126)aGg>aAg	p.R42K	TNFRSF8_ENST00000417814.2_Intron	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	42					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		AAGGCTGTCAGGAGGTGCTGT	0.582													A	12144582	G	A	12144582	3	1	348	1	0	0	0	0	1	0	0	0	16399	1000	35	2	131	2	TNFRSF8	1	12144582	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	4106815	12144582	237106039	2	22714											
NBPF1	55672	broad.mit.edu	37	chr1	16891370	16891372	+	In_Frame_Del	DEL	TCT	TCT	-																															ctccttcttttcttcgttgaTcttcttccccttcttttctt																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:16891370_16891372delTCT	ENST00000430580.2	-	28	3993_3995	c.3106_3108delAGA	c.(3106-3108)agadel	p.R1036del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1026	NBPF 6.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		tcttcgttgatcttcttcccctt	0.414													-	16891372	TCT	-	16891370	7	5	348	1	0	1	0	1	0	0	0	0	10268	1432	50	0	319	0	NBPF1	1	16891370	In_Frame_Del	DEL	TCT	TCGA-DH-A7UR-01A-11D-A33T-08	4746788	16891370	232359251	3	22715											
FUBP1	8880	broad.mit.edu	37	chr1	78430644	78430644	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcataaccattttaactcCagcccgttcctgttacaatc	12	13	3	13	1	1	0	1	0	0	0	4	0	3	0	4	0	4	2	4	0	5	5			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:78430644C>A	ENST00000370767.1	-	9	733	c.646G>T	c.(646-648)Gga>Tga	p.G216*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.G216*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.G237*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATTTTAACTCCAGCCCGTTCC	0.363			"F, N"		oligodendroglioma								A	78430644	C	A	78430644	4	1	348	1	0	0	0	0	0	1	0	0	6144	603	21	4	1336	4	FUBP1	1	78430644	Nonsense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	61539274	78430644	170819977	4	22716											
ZNF326	284695	broad.mit.edu	37	chr1	90482967	90482967	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcttcacatcaggaaacaTtagatcatatacagaaacaa	18	10	5	8	0	4	2	3	0	1	2	4	3	4	3	0	1	3	1	0	1	6	5			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:90482967T>G	ENST00000370447.3	+	8	872	c.751T>G	c.(751-753)Tta>Gta	p.L251V	ZNF326_ENST00000340281.4_Missense_Mutation_p.L340V|ZNF326_ENST00000455342.2_Missense_Mutation_p.L134V			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding	p.L340V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		TCAGGAAACATTAGATCATAT	0.299													G	90482967	T	G	90482967	3	3	348	1	0	0	0	0	1	0	0	0	17947	1490	52	5	1052	5	ZNF326	1	90482967	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	12052323	90482967	158767654	5	22717											
RPTN	126638	broad.mit.edu	37	chr1	152129200	152129200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttctgcctttcttcctcGtgcctctgtctgtgttgtct	1	19	9	12	1	5	0	0	0	5	0	7	1	6	0	3	0	2	2	3	0	0	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:152129200G>A	ENST00000316073.3	-	3	439	c.375C>T	c.(373-375)caC>caT	p.H125H		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	125	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						TTTCTTCCTCGTGCCTCTGTC	0.542													A	152129200	G	A	152129200	2	1	348	1	0	0	0	0	0	0	0	1	13755	1136	40	1		1	RPTN	1	152129200	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	61646233	152129200	97121421	6	22718											
FCRL4	83417	broad.mit.edu	37	chr1	157545510	157545510	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatcctctagaagtgtcctGgaggtattagctgtggacag	9	13	12	7	0	1	1	0	0	1	1	3	3	3	3	2	3	1	2	2	3	5	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:157545510G>A	ENST00000271532.1	-	11	1575	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	480						integral to membrane|plasma membrane	receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				GAAGTGTCCTGGAGGTATTAG	0.463													A	157545510	G	A	157545510	2	1	348	1	0	0	0	0	0	0	0	1	5846	1335	47	2		2	FCRL4	1	157545510	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	5416310	157545510	91705111	7	22719											
KIFAP3	22920	broad.mit.edu	37	chr1	170003518	170003520	+	In_Frame_Del	DEL	TTC	TTC	-																															actctaaaaggatatcagctTtcttcttctttgagagttct																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:170003518_170003520delTTC	ENST00000367765.1	-	7	2116_2118	c.615_617delGAA	c.(613-618)aagaaa>aaa	p.205_206KK>K	KIFAP3_ENST00000538366.1_In_Frame_Del_p.167_168KK>K|KIFAP3_ENST00000367767.1_In_Frame_Del_p.201_202KK>K|KIFAP3_ENST00000361580.2_In_Frame_Del_p.245_246KK>K	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	245					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GATATCAGCTTTCTTCTTCTTTG	0.33													-	170003520	TTC	-	170003518	7	5	348	1	0	1	0	1	0	0	0	0	8369	1841	64	0	1697	0	KIFAP3	1	170003518	In_Frame_Del	DEL	TTC	TCGA-DH-A7UR-01A-11D-A33T-08	12458008	170003518	79247103	8	22720											
TNR	7143	broad.mit.edu	37	chr1	175355252	175355252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtatcgggagccaggccGcagggcctgcactgagtatt	7	8	14	12	3	0	1	0	1	0	0	2	2	0	2	3	3	2	4	3	3	2	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:175355252G>A	ENST00000367674.2	-	8	2401	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	TNR_ENST00000263525.2_Missense_Mutation_p.R565W			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 3.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GAGCCAGGCCGCAGGGCCTGC	0.607													A	175355252	G	A	175355252	3	1	348	1	0	0	0	0	1	0	0	0	16438	1086	38	1	2447	1	TNR	1	175355252	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	5351734	175355252	73895369	9	22721											
PDC	5132	broad.mit.edu	37	chr1	186413580	186413580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacactgtctacggtatttaCgaaggcagttttcatcctct	9	15	7	10	2	3	0	1	0	2	0	4	1	4	0	1	2	3	3	1	2	5	7			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:186413580C>T	ENST00000391997.2	-	4	359	c.272G>A	c.(271-273)cGt>cAt	p.R91H	PDC_ENST00000340129.5_Missense_Mutation_p.R91H|PDC_ENST00000456239.2_Missense_Mutation_p.R39H|PDC_ENST00000497198.1_Missense_Mutation_p.R39H	NM_002597.4	NP_002588.3	P20941	PHOS_HUMAN	phosducin	91					G-protein coupled receptor protein signaling pathway|phototransduction|visual perception	actin cytoskeleton|cytosol|nucleus|photoreceptor inner segment|photoreceptor outer segment	phospholipase inhibitor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7		Breast(1374;1.53e-05)		KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.0129)		ACGGTATTTACGAAGGCAGTT	0.368													T	186413580	C	T	186413580	3	4	348	1	0	0	0	0	1	0	0	0	11690	536	19	1	472	1	PDC	1	186413580	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	11058328	186413580	62837041	10	22722											
OR14C36	127066	broad.mit.edu	37	chr1	248512274	248512274	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcctcaggaatctgtctatCttggatgcctgctacatttc	7	16	7	11	0	4	0	1	0	3	0	6	2	5	2	2	2	3	1	2	2	3	5			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr1:248512274C>G	ENST00000317861.1	+	1	198	c.198C>G	c.(196-198)atC>atG	p.I66M		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATCTGTCTATCTTGGATGCCT	0.478													G	248512274	C	G	248512274	3	3	348	1	0	0	0	0	1	0	0	0	11022	903	32	4	200	4	OR14C36	1	248512274	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	62098694	248512274	738347	11	22723											
NCOA1	8648	broad.mit.edu	37	chr2	24952522	24952522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctttccaaggcatggtcagGcaaaaaccttcactggggac	11	8	10	12	0	2	0	2	0	0	0	3	1	3	1	3	5	1	2	3	5	3	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:24952522G>A	ENST00000405141.1	+	18	3750	c.3039G>A	c.(3037-3039)agG>agA	p.R1013R	NCOA1_ENST00000407230.1_Silent_p.R862R|NCOA1_ENST00000395856.3_Silent_p.R1013R|NCOA1_ENST00000538539.1_Silent_p.R1013R|NCOA1_ENST00000406961.1_Silent_p.R1013R|NCOA1_ENST00000348332.3_Silent_p.R1013R|NCOA1_ENST00000288599.5_Silent_p.R1013R			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1013									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCATGGTCAGGCAAAAACCTT	0.512			T	PAX3	alveolar rhadomyosarcoma								A	24952522	G	A	24952522	2	1	348	1	0	0	0	0	0	0	0	1	10304	1194	42	2		2	NCOA1	2	24952522	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		24952522	218246851	12	22724											
TTC7A	57217	broad.mit.edu	37	chr2	47221500	47221500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctctctgccagatggCggccaagcacctggcggggg	5	7	14	15	2	1	1	0	0	1	1	3	1	2	1	4	5	2	1	4	5	1	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:47221500C>T	ENST00000319190.5	+	7	1216	c.848C>T	c.(847-849)gCg>gTg	p.A283V	TTC7A_ENST00000263737.6_Intron|TTC7A_ENST00000394850.2_Missense_Mutation_p.A283V|TTC7A_ENST00000409245.1_Missense_Mutation_p.A249V|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	283							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGCCAGATGGCGGCCAAGCAC	0.632													T	47221500	C	T	47221500	3	4	348	1	0	0	0	0	1	0	0	0	16814	768	27	1	874	1	TTC7A	2	47221500	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	22268978	47221500	195977873	13	22725											
EHBP1	23301	broad.mit.edu	37	chr2	63272232	63272232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaggcccagaagcgacgCgaacagcttctgctagatga	12	5	12	12	4	1	3	0	1	1	2	1	6	1	3	2	1	4	2	2	1	3	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:63272232C>T	ENST00000263991.5	+	24	4004	c.3522C>T	c.(3520-3522)cgC>cgT	p.R1174R	EHBP1_ENST00000354487.3_Silent_p.R1139R|EHBP1_ENST00000405289.1_Silent_p.R1139R|EHBP1_ENST00000431489.1_Silent_p.R1103R|EHBP1_ENST00000496857.1_3'UTR|AC009501.4_ENST00000437346.1_RNA|EHBP1_ENST00000405015.3_Silent_p.R1103R|AC009501.4_ENST00000429952.1_RNA	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	1174						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			AGAAGCGACGCGAACAGCTTC	0.662													T	63272232	C	T	63272232	2	4	348	1	0	0	0	0	0	0	0	1	5014	755	27	1		1	EHBP1	2	63272232	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	16050732	63272232	179927141	14	22726											
PSD4	23550	broad.mit.edu	37	chr2	113940279	113940279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgggtccatcaggaCgggctggagccttgccagga	7	6	18	10	1	1	0	1	0	0	0	2	4	2	4	3	6	3	2	3	6	0	1	rs147089589		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:113940279C>T	ENST00000441564.3	+	2	415	c.246C>T	c.(244-246)gaC>gaT	p.D82D	PSD4_ENST00000465917.1_3'UTR|PSD4_ENST00000245796.6_Silent_p.D82D			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCATCAGGACGGGCTGGAGC	0.622													T	113940279	C	T	113940279	2	4	348	1	0	0	0	0	0	0	0	1	12734	535	19	1		1	PSD4	2	113940279	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	50668047	113940279	129259094	15	22727											
PSD4	23550	broad.mit.edu	37	chr2	113958749	113958749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagaaaacccgctacgaGacctacgtgcagctgctggt	10	8	11	12	3	0	2	0	0	0	2	0	3	0	2	2	1	7	5	2	1	4	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:113958749G>A	ENST00000441564.3	+	17	3010	c.2841G>A	c.(2839-2841)gaG>gaA	p.E947E	PSD4_ENST00000245796.6_Silent_p.E976E			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4						regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCCGCTACGAGACCTACGTGC	0.632													A	113958749	G	A	113958749	2	1	348	1	0	0	0	0	0	0	0	1	12734	933	33	2		2	PSD4	2	113958749	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	18470	113958749	129240624	16	22728											
CLASP1	23332	broad.mit.edu	37	chr2	122125380	122125380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccccggccctcagtggcagGggaggcagcgcccccatcgc	5	3	14	19	3	1	0	1	0	0	0	2	1	1	1	5	5	1	2	5	5	0	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:122125380G>A	ENST00000263710.4	-	35	4059	c.3670C>T	c.(3670-3672)Cct>Tct	p.P1224S	CLASP1_ENST00000545861.1_Missense_Mutation_p.P931S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P1164S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P1163S|CLASP1_ENST00000455322.2_Missense_Mutation_p.P1180S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P1157S|CLASP1_ENST00000541859.1_Missense_Mutation_p.P941S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1224					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					TCAGTGGCAGGGGAGGCAGCG	0.582													A	122125380	G	A	122125380	3	1	348	1	0	0	0	0	1	0	0	0	3485	1232	43	2	970	2	CLASP1	2	122125380	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	8166631	122125380	121073993	17	22729											
USP40	55230	broad.mit.edu	37	chr2	234465531	234465534	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctaacgttcttacattctttAcaaacaatctggttaacaat																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr2:234465531_234465534delACAA	ENST00000251722.6	-	5	630_633	c.513_516delTTGT	c.(511-516)gtttgtfs	p.VC171fs	USP40_ENST00000427112.2_Frame_Shift_Del_p.VC171fs|USP40_ENST00000450966.1_Frame_Shift_Del_p.VC183fs			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	171					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		TACATTCTTTACAAACAATCTGGT	0.363													-	234465534	ACAA	-	234465531	7	5	348	1	0	1	0	1	0	0	0	0	17174	389	14	0	3303	0	USP40	2	234465531	Frame_Shift_Del	DEL	ACAA	TCGA-DH-A7UR-01A-11D-A33T-08	112340151	234465531	8733842	18	22730											
NIT2	56954	broad.mit.edu	37	chr3	100065063	100065063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcatctgctacgacatgCggtttgcagagcttgcacaa	9	10	12	10	2	1	1	0	0	1	1	1	2	1	1	0	2	6	6	0	2	2	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:100065063C>T	ENST00000394140.4	+	6	560	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTACGACATGCGGTTTGCAGA	0.493													T	100065063	C	T	100065063	3	4	348	1	0	0	0	0	1	0	0	0	10510	759	27	1	491	1	NIT2	3	100065063	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		100065063	97957367	19	22731											
PRKCI	5584	broad.mit.edu	37	chr3	169998192	169998192	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcttgttaatgatgatgagGtaagcactgcatattttatt	12	16	9	4	0	0	3	0	3	0	0	0	3	0	3	0	1	3	5	0	1	4	7			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:169998192G>A	ENST00000295797.4	+	9	1187		c.e9+1			NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota						anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TGATGATGAGGTAAGCACTGC	0.348													A	169998192	G	A	169998192	5	1	348	1	0	0	0	0	0	0	1	0	12600	1275	44	2	917	2	PRKCI	3	169998192	Splice_Site	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	69933129	169998192	28024238	20	22732											
PSMD2	5708	broad.mit.edu	37	chr3	184022109	184022109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggctaggcttggcttatgCtggctcaaatcgtgaagatg	9	11	13	8	1	1	2	1	1	0	1	2	2	1	2	0	4	1	5	0	4	4	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:184022109C>T	ENST00000310118.4	+	12	2027	c.1469C>T	c.(1468-1470)gCt>gTt	p.A490V	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.A360V|PSMD2_ENST00000435761.1_Missense_Mutation_p.A331V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	490					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TTGGCTTATGCTGGCTCAAAT	0.478													T	184022109	C	T	184022109	3	4	348	1	0	0	0	0	1	0	0	0	12783	797	28	2	1515	2	PSMD2	3	184022109	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	14023917	184022109	14000321	21	22733											
RFC4	5984	broad.mit.edu	37	chr3	186509619	186509620	+	Frame_Shift_Del	DEL	TT	TT	-																															cttaagtctccttctgacacTttaacaagataagctattcc																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr3:186509619_186509620delTT	ENST00000392481.2	-	8	976_977	c.695_696delAA	c.(694-696)aaafs	p.K232fs	RFC4_ENST00000433496.1_Frame_Shift_Del_p.K232fs|RFC4_ENST00000296273.2_Frame_Shift_Del_p.K232fs	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	232					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		CTTCTGACACTTTAACAAGATA	0.322													-	186509620	TT	-	186509619	7	5	348	1	0	1	0	1	0	0	0	0	13335	1606	56	0	411	0	RFC4	3	186509619	Frame_Shift_Del	DEL	TT	TCGA-DH-A7UR-01A-11D-A33T-08	2487510	186509619	11512811	22	22734											
EVC2	132884	broad.mit.edu	37	chr4	5642373	5642375	+	In_Frame_Del	DEL	CTC	CTC	-																															gccaccatcttccgatcgtaCtcctcttgtatttcattttc																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:5642373_5642375delCTC	ENST00000310917.2	-	10	1827_1829	c.1096_1098delGAG	c.(1096-1098)gagdel	p.E366del	EVC2_ENST00000344408.5_In_Frame_Del_p.E446del|EVC2_ENST00000344938.1_In_Frame_Del_p.E446del	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	446						integral to membrane		p.E446G(1)		NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCGATCGTACTCCTCTTGTATT	0.438													-	5642375	CTC	-	5642373	7	5	348	1	0	1	0	1	0	0	0	0	5327	564	20	0	2640	0	EVC2	4	5642373	In_Frame_Del	DEL	CTC	TCGA-DH-A7UR-01A-11D-A33T-08		5642373	185511903	23	22735											
RBPJ	3516	broad.mit.edu	37	chr4	26426292	26426293	+	Frame_Shift_Del	DEL	GA	GA	-																															aggagaagaattcacagtccGagatggctacatccattatg																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:26426292_26426293delGA	ENST00000342320.4	+	7	847_848	c.671_672delGA	c.(670-672)cgafs	p.R224fs	RBPJ_ENST00000361572.6_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.R238fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.R225fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.R224fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.R223fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.R203fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	238					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				TTCACAGTCCGAGATGGCTACA	0.376													-	26426293	GA	-	26426292	7	5	348	1	0	1	0	1	0	0	0	0	13249	1058	37	0	802	0	RBPJ	4	26426292	Frame_Shift_Del	DEL	GA	TCGA-DH-A7UR-01A-11D-A33T-08	20783919	26426292	164727984	24	22736											
WDR19	57728	broad.mit.edu	37	chr4	39276459	39276462	+	Frame_Shift_Del	DEL	TGAG	TGAG	-																															atcctgacgtcaactgtgatTgagtgtcacagggcaggcct																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:39276459_39276462delTGAG	ENST00000399820.3	+	33	3751_3754	c.3597_3600delTGAG	c.(3595-3600)attgagfs	p.IE1199fs	WDR19_ENST00000288634.7_Frame_Shift_Del_p.IE1039fs	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1199					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						CAACTGTGATTGAGTGTCACAGGG	0.49													-	39276462	TGAG	-	39276459	7	5	348	1	0	1	0	1	0	0	0	0	17381	1800	63	0	3727	0	WDR19	4	39276459	Frame_Shift_Del	DEL	TGAG	TCGA-DH-A7UR-01A-11D-A33T-08	12850167	39276459	151877817	25	22737											
AASDH	132949	broad.mit.edu	37	chr4	57204654	57204658	+	Frame_Shift_Del	DEL	GAGAA	GAGAA	-																															cattgattccaggaccacagGagaagagaagacttctccag																								rs112962387		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:57204654_57204658delGAGAA	ENST00000205214.6	-	15	3387_3391	c.3207_3211delTTCTC	c.(3205-3213)tcttctcctfs	p.SP1070fs	AASDH_ENST00000434343.2_Frame_Shift_Del_p.SP585fs|AASDH_ENST00000513376.1_Frame_Shift_Del_p.SP970fs|AASDH_ENST00000451613.1_3'UTR	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	1070					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AGGACCACAGGAGAAGAGAAGACTT	0.4													-	57204658	GAGAA	-	57204654	7	5	348	1	0	1	0	1	0	0	0	0	22	1174	41	0	89	0	AASDH	4	57204654	Frame_Shift_Del	DEL	GAGAA	TCGA-DH-A7UR-01A-11D-A33T-08	17928195	57204654	133949622	26	22738											
WDFY3	23001	broad.mit.edu	37	chr4	85634366	85634366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacagattctgaactgtccGttagagatggcactacagcc	12	10	9	10	1	1	3	0	1	1	2	2	4	2	3	2	1	4	2	2	1	4	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:85634366G>A	ENST00000322366.6	-	50	8344	c.7937C>T	c.(7936-7938)aCg>aTg	p.T2646M	WDFY3_ENST00000295888.4_Missense_Mutation_p.T2663M			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2663						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGAACTGTCCGTTAGAGATGG	0.423													A	85634366	G	A	85634366	3	1	348	1	0	0	0	0	1	0	0	0	17372	1145	40	1	2664	1	WDFY3	4	85634366	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	28429712	85634366	105519910	27	22739											
FAT4	79633	broad.mit.edu	37	chr4	126373108	126373108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatccagatgtgttagacaGcttccactgctcccttactt	8	13	8	12	0	0	2	0	0	0	2	3	3	3	3	3	1	3	3	3	1	2	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:126373108G>A	ENST00000394329.3	+	9	10950	c.10937G>A	c.(10936-10938)aGc>aAc	p.S3646N	FAT4_ENST00000335110.5_Missense_Mutation_p.S1944N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3646					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GTGTTAGACAGCTTCCACTGC	0.478													A	126373108	G	A	126373108	3	1	348	1	0	0	0	0	1	0	0	0	5741	971	34	2	10971	2	FAT4	4	126373108	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	40738742	126373108	64781168	28	22740											
SMARCA5	8467	broad.mit.edu	37	chr4	144468620	144468622	+	In_Frame_Del	DEL	AAG	AAG	-																															aggggagaggcgagaattcaAagaagaataagcatcaagaa																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr4:144468620_144468622delAAG	ENST00000283131.3	+	21	3198_3200	c.2736_2738delAAG	c.(2734-2739)caaaga>caa	p.R914del		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	914					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding	p.Q912Q(1)	EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					CGAGAATTCAAAGAAGAATAAGC	0.389													-	144468622	AAG	-	144468620	7	5	348	1	0	1	0	1	0	0	0	0	14865	11	1	0	2818	0	SMARCA5	4	144468620	In_Frame_Del	DEL	AAG	TCGA-DH-A7UR-01A-11D-A33T-08	18095512	144468620	46685656	29	22741											
LRRC14B	389257	broad.mit.edu	37	chr5	195061	195061	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagacagccacgttggcatgCtgatcctgggcctgagcccc	7	8	12	14	1	0	3	0	2	0	1	1	3	1	3	5	2	3	3	5	2	1	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:195061C>G	ENST00000328278.3	+	2	1166	c.1138C>G	c.(1138-1140)Ctg>Gtg	p.L380V		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	380										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CGTTGGCATGCTGATCCTGGG	0.667													G	195061	C	G	195061	3	3	348	1	0	0	0	0	1	0	0	0	9039	796	28	4	1144	4	LRRC14B	5	195061	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		195061	180720199	30	22742											
ADAMTS12	81792	broad.mit.edu	37	chr5	33588803	33588803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctggcagtctgtgggCgggagagcctgctcgtcaga	6	8	18	9	2	2	2	1	0	1	2	3	3	2	2	1	4	3	3	1	4	0	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:33588803C>T	ENST00000504830.1	-	18	3101	c.2766G>A	c.(2764-2766)ccG>ccA	p.P922P	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Silent_p.P837P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	922	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.P922P(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AGTCTGTGGGCGGGAGAGCCT	0.632										HNSCC(64;0.19)			T	33588803	C	T	33588803	2	4	348	1	0	0	0	0	0	0	0	1	257	755	27	1		1	ADAMTS12	5	33588803	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	33393742	33588803	147326457	31	22743											
SV2C	22987	broad.mit.edu	37	chr5	75505623	75505623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcctggcccgggaaaagcGgggcgaacacttgagctggc	9	5	16	11	3	0	1	0	1	0	0	1	3	1	2	2	5	3	1	2	5	3	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:75505623G>A	ENST00000502798.2	+	4	1266	c.824G>A	c.(823-825)cGg>cAg	p.R275Q	SV2C_ENST00000322285.7_Missense_Mutation_p.R275Q	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	275					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CGGGAAAAGCGGGGCGAACAC	0.557													A	75505623	G	A	75505623	3	1	348	1	0	0	0	0	1	0	0	0	15515	1116	39	1	834	1	SV2C	5	75505623	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	41916820	75505623	105409637	32	22744											
ANKRD32	84250	broad.mit.edu	37	chr5	94014527	94014527	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttaggtcttcaaacatgaActagcttacttattggctgg	10	15	9	7	0	2	1	1	1	1	0	2	1	2	1	0	3	4	3	0	3	6	6			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:94014527A>G	ENST00000265140.5	+	15	2261	c.1842A>G	c.(1840-1842)gaA>gaG	p.E614E		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	614										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		TCAAACATGAACTAGCTTACT	0.313													G	94014527	A	G	94014527	2	3	348	1	0	0	0	0	0	0	0	1	660	40	2	3		3	ANKRD32	5	94014527	Silent	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	18508904	94014527	86900733	33	22745											
ACSL6	23305	broad.mit.edu	37	chr5	131321132	131321132	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaaacacacaatggagAggtcatcaggctgcgggggc	11	7	15	8	1	2	2	2	1	0	1	2	3	2	2	0	5	2	1	0	5	2	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr5:131321132A>C	ENST00000379264.2	-	9	992	c.884T>G	c.(883-885)cTc>cGc	p.L295R	ACSL6_ENST00000544770.1_Missense_Mutation_p.L179R|ACSL6_ENST00000357096.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379255.1_Missense_Mutation_p.L235R|ACSL6_ENST00000379244.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379272.2_Missense_Mutation_p.L285R|ACSL6_ENST00000543479.1_Missense_Mutation_p.L270R|ACSL6_ENST00000379249.3_Missense_Mutation_p.L270R|ACSL6_ENST00000379240.1_Missense_Mutation_p.L270R|ACSL6_ENST00000431707.1_Missense_Mutation_p.L250R|ACSL6_ENST00000379246.1_Missense_Mutation_p.L281R|ACSL6_ENST00000296869.4_Missense_Mutation_p.L295R	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	270					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACAATGGAGAGGTCATCAGG	0.627													C	131321132	A	C	131321132	3	2	348	1	0	0	0	0	1	0	0	0	181	304	11	5	1418	5	ACSL6	5	131321132	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	37306605	131321132	49594128	34	22746											
DST	667	broad.mit.edu	37	chr6	56382032	56382032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcttcactgcatgcggtCatgattttatgcccagattt	7	16	7	11	1	3	2	2	1	1	1	4	2	4	2	2	1	3	1	2	1	1	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr6:56382032C>T	ENST00000370754.5	-	71	18227	c.18228G>A	c.(18226-18228)atG>atA	p.M6076I	DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Missense_Mutation_p.M5572I|DST_ENST00000421834.2_Missense_Mutation_p.M3810I|DST_ENST00000340834.4_5'UTR|DST_ENST00000361203.3_Missense_Mutation_p.M5787I|DST_ENST00000244364.6_Missense_Mutation_p.M3484I|DST_ENST00000370769.4_Missense_Mutation_p.M5898I|DST_ENST00000370788.2_Missense_Mutation_p.M3701I			Q03001	DYST_HUMAN	dystonin	5896					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCATGCGGTCATGATTTTAT	0.378													T	56382032	C	T	56382032	3	4	348	1	0	0	0	0	1	0	0	0	4822	826	29	2	5195	2	DST	6	56382032	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		56382032	114733035	35	22747											
RADIL	55698	broad.mit.edu	37	chr7	4874838	4874838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccgctggcccaccgtgtgCcggtcccggttgagcacata	5	8	13	15	4	0	1	0	1	0	0	2	1	2	1	5	3	2	3	5	3	1	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:4874838C>T	ENST00000399583.3	-	4	1003	c.816G>A	c.(814-816)cgG>cgA	p.R272R	RADIL_ENST00000538469.1_Silent_p.R32R|RADIL_ENST00000536091.1_Silent_p.R272R	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	272					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CCACCGTGTGCCGGTCCCGGT	0.652													T	4874838	C	T	4874838	2	4	348	1	0	0	0	0	0	0	0	1	13085	726	26	2		2	RADIL	7	4874838	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		4874838	154263825	36	22748											
HOXA1	3198	broad.mit.edu	37	chr7	27134078	27134078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgggaggtagtcagaGtgtctgaggtagaagacccc	10	8	15	8	0	3	4	2	1	1	3	3	5	3	5	2	3	0	2	2	3	3	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:27134078G>A	ENST00000343060.4	-	2	1050	c.989C>T	c.(988-990)aCt>aTt	p.T330I	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	330						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GGTAGTCAGAGTGTCTGAGGT	0.597													A	27134078	G	A	27134078	3	1	348	1	0	0	0	0	1	0	0	0	7343	1029	36	2	22	2	HOXA1	7	27134078	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	22259240	27134078	132004585	37	22749											
PCLO	27445	broad.mit.edu	37	chr7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctacctttggtactgtaCgcaaatcaattacatcacca	12	13	4	12	1	3	0	2	0	1	0	3	0	3	0	2	1	4	3	2	1	6	6			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:82582077C>T	ENST00000333891.9	-	5	8529	c.8192G>A	c.(8191-8193)cGt>cAt	p.R2731H	PCLO_ENST00000423517.2_Missense_Mutation_p.R2731H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTACTGTACGCAAATCAAT	0.353													T	82582077	C	T	82582077	3	4	348	1	0	0	0	0	1	0	0	0	11659	536	19	1	7337	1	PCLO	7	82582077	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	55447999	82582077	76556586	38	22750											
ZAN	7455	broad.mit.edu	37	chr7	100350298	100350298	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccatctccacagaaaaacCcaccatccccacagaaaaac	18	3	2	18	0	1	2	0	0	1	2	3	2	2	2	6	0	2	0	6	0	4	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:100350298C>T	ENST00000542585.1	+	0	2718				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACAGAAAAACCCACCATCCCC	0.498													T	100350298	C	T	100350298	1	4	348	0	1	0	0	0	0	0	0	0	17615	623	22	2		2	ZAN	7	100350298	RNA	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	17768221	100350298	58788365	39	22751											
MUC17	140453	broad.mit.edu	37	chr7	100681328	100681328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctgaaggtaccagcatgCcaacctcaactcctagtgaa	12	9	7	13	0	2	2	1	2	1	0	3	2	3	2	4	1	5	2	4	1	6	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:100681328C>T	ENST00000306151.4	+	3	6695	c.6631C>T	c.(6631-6633)Cca>Tca	p.P2211S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2211	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)					TACCAGCATGCCAACCTCAAC	0.498													T	100681328	C	T	100681328	3	4	348	1	0	0	0	0	1	0	0	0	10050	739	26	2	6641	2	MUC17	7	100681328	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	331030	100681328	58457335	40	22752											
OR2A5	393046	broad.mit.edu	37	chr7	143748408	143748408	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgccctgaaaagagtgtTgtggaaacagagatcaaagt	14	8	14	5	0	1	3	1	1	0	2	1	5	1	4	1	2	2	1	1	2	4	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:143748408T>G	ENST00000408906.2	+	1	948	c.914T>G	c.(913-915)tTg>tGg	p.L305W		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					AAAAGAGTGTTGTGGAAACAG	0.473													G	143748408	T	G	143748408	3	3	348	1	0	0	0	0	1	0	0	0	11057	1821	63	5	916	5	OR2A5	7	143748408	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	43067080	143748408	15390255	41	22753											
ZNF212	7988	broad.mit.edu	37	chr7	148947380	148947382	+	In_Frame_Del	DEL	AGA	AGA	-																															ggccgctattcaggctgtggAgaagaagatggagtcccagg																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr7:148947380_148947382delAGA	ENST00000335870.2	+	2	283_285	c.155_157delAGA	c.(154-159)gagaag>gag	p.K54del		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	54					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			CAGGCTGTGGAGAAGAAGATGGA	0.567													-	148947382	AGA	-	148947380	7	5	348	1	0	1	0	1	0	0	0	0	17869	304	11	0	161	0	ZNF212	7	148947380	In_Frame_Del	DEL	AGA	TCGA-DH-A7UR-01A-11D-A33T-08	5198972	148947380	10191283	42	22754											
BAI1	575	broad.mit.edu	37	chr8	143604041	143604041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccatttctgtgggattcaCcaaggccaaagggtacagca	11	8	12	10	0	2	0	1	0	1	0	2	1	2	1	3	4	2	2	3	4	3	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr8:143604041C>T	ENST00000517894.1	+	22	4109	c.3215C>T	c.(3214-3216)aCc>aTc	p.T1072I	BAI1_ENST00000323289.5_Missense_Mutation_p.T1072I			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1072					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTGGGATTCACCAAGGCCAAA	0.627													T	143604041	C	T	143604041	3	4	348	1	0	0	0	0	1	0	0	0	1303	507	18	2	3297	2	BAI1	8	143604041	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		143604041	2759981	43	22755											
TLE4	7091	broad.mit.edu	37	chr9	82323125	82323125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaactctactcccggattGaggcctgtacctggaaaacc	11	9	9	12	1	1	1	0	1	1	0	2	3	2	3	4	3	4	2	4	3	5	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:82323125G>T	ENST00000376520.4	+	13	1953	c.1125G>T	c.(1123-1125)ttG>ttT	p.L375F	TLE4_ENST00000376552.2_Missense_Mutation_p.L343F|TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000265284.6_Missense_Mutation_p.L318F|TLE4_ENST00000376544.3_Missense_Mutation_p.L274F|TLE4_ENST00000376537.4_Missense_Mutation_p.L375F	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0								p.L375L(1)|p.L343L(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTCCCGGATTGAGGCCTGTAC	0.418													T	82323125	G	T	82323125	3	4	348	1	0	0	0	0	1	0	0	0	16041	1281	45	4	1075	4	TLE4	9	82323125	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		82323125	58890306	44	22756											
ABCA2	20	broad.mit.edu	37	chr9	139905168	139905168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcatcctccacaggCttggtagacacaggcatgcg	10	8	9	14	1	1	1	1	0	0	1	4	1	4	1	3	3	1	3	3	3	1	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr9:139905168C>T	ENST00000265662.5	-	40	6225	c.6078G>A	c.(6076-6078)aaG>aaA	p.K2026K	ABCA2_ENST00000341511.6_Silent_p.K2026K|ABCA2_ENST00000371605.3_Silent_p.K2025K			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	2025					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CCTCCACAGGCTTGGTAGACA	0.637													T	139905168	C	T	139905168	2	4	348	1	0	0	0	0	0	0	0	1	32	796	28	2		2	ABCA2	9	139905168	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	57582043	139905168	1308263	45	22757											
TUBB8	347688	broad.mit.edu	37	chr10	93373	93373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacctccctcatgggcatgCgacccctgaaaatggcagcc	9	6	9	17	1	1	1	1	1	0	0	2	2	2	1	6	2	2	2	6	2	2	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:93373C>T	ENST00000447903.2	-	4	1058	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TUBB8_ENST00000309812.4_Missense_Mutation_p.R320H			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	320					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		CATGGGCATGCGACCCCTGAA	0.522													T	93373	C	T	93373	3	4	348	1	0	0	0	0	1	0	0	0	16863	768	27	1	379	1	TUBB8	10	93373	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		93373	135441374	46	22758											
MAP3K8	1326	broad.mit.edu	37	chr10	30739449	30739452	+	Splice_Site	DEL	GTAA	GTAA	-																															gatccatcatgatattaaacGtaagtatctttggacatata																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:30739449_30739452delGTAA	ENST00000263056.1	+	5	1462		c.e5+1		MAP3K8_ENST00000542547.1_Splice_Site|MAP3K8_ENST00000375321.1_Splice_Site	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8						cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				GATATTAAACGTAAGTATCTTTGG	0.387													-	30739452	GTAA	-	30739449	8	5	348	1	0	1	0	1	0	0	1	0	9331	1159	40	0	777	0	MAP3K8	10	30739449	Splice_Site	DEL	GTAA	TCGA-DH-A7UR-01A-11D-A33T-08	30646076	30739449	104795298	47	22759											
ZEB1	6935	broad.mit.edu	37	chr10	31784731	31784731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaagggcaagaaatcctgGggcctgaagctcaggcagat	13	5	15	8	0	1	3	1	1	0	2	2	4	2	4	2	5	1	3	2	5	4	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:31784731G>C	ENST00000446923.2	+	3	626	c.235G>C	c.(235-237)Ggg>Cgg	p.G79R	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000542815.3_Missense_Mutation_p.G28R|ZEB1_ENST00000560721.2_Intron|ZEB1_ENST00000361642.5_Missense_Mutation_p.G96R|ZEB1_ENST00000320985.10_Missense_Mutation_p.G95R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	95					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGAAATCCTGGGGCCTGAAGC	0.383													C	31784731	G	C	31784731	3	2	348	1	0	0	0	0	1	0	0	0	17724	1232	43	4	307	4	ZEB1	10	31784731	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	1045282	31784731	103750016	48	22760											
KIF5B	3799	broad.mit.edu	37	chr10	32320036	32320036	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatcactaagcaattcatAttccttagttttgtcttcaa	11	18	3	9	0	5	0	4	0	1	0	6	0	6	0	1	0	1	2	1	0	5	9			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:32320036A>T	ENST00000302418.4	-	14	2003	c.1546T>A	c.(1546-1548)Tat>Aat	p.Y516N		NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	516					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				AGCAATTCATATTCCTTAGTT	0.318			T	"RET, ALK"	NSCLC								T	32320036	A	T	32320036	3	4	348	1	0	0	0	0	1	0	0	0	8364	449	16	5	1393	5	KIF5B	10	32320036	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	535305	32320036	103214711	49	22761											
FAM13C	220965	broad.mit.edu	37	chr10	61012753	61012753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatcagagtcctcttcCtcctgcttatcacaggcaga	8	13	6	14	0	5	2	3	0	2	2	8	2	8	2	3	1	1	2	3	1	1	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:61012753C>T	ENST00000373867.3	-	13	1551	c.1086G>A	c.(1084-1086)gaG>gaA	p.E362E	FAM13C_ENST00000277705.6_Silent_p.E466E|FAM13C_ENST00000435852.2_Silent_p.E446E|FAM13C_ENST00000442566.3_Silent_p.E467E|FAM13C_ENST00000419214.2_Silent_p.E348E|FAM13C_ENST00000373868.2_Silent_p.E446E|FAM13C_ENST00000468840.2_Silent_p.E363E	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	446										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						AGTCCTCTTCCTCCTGCTTAT	0.463													T	61012753	C	T	61012753	2	4	348	1	0	0	0	0	0	0	0	1	5499	680	24	2		2	FAM13C	10	61012753	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	28692717	61012753	74521994	50	22762											
KIF20B	9585	broad.mit.edu	37	chr10	91465121	91465121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttagtgctgacccaattgcaAggccttcagaaataaatttc	13	12	7	9	0	1	2	1	1	0	1	2	2	1	2	2	1	2	2	2	1	6	5			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:91465121A>G	ENST00000416354.1	+	2	142	c.70A>G	c.(70-72)Agg>Ggg	p.R24G	KIF20B_ENST00000260753.4_Missense_Mutation_p.R24G|KIF20B_ENST00000371728.3_Missense_Mutation_p.R24G|KIF20B_ENST00000394289.2_Missense_Mutation_p.R24G			Q96Q89	KI20B_HUMAN	kinesin family member 20B	24					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						CCCAATTGCAAGGCCTTCAGA	0.358													G	91465121	A	G	91465121	3	3	348	1	0	0	0	0	1	0	0	0	8345	63	3	3	72	3	KIF20B	10	91465121	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	30452368	91465121	44069626	51	22763											
HECTD2	143279	broad.mit.edu	37	chr10	93247529	93247529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcaacagatgataaacatCgcaagggtaagtcagctata	17	7	10	7	1	1	2	1	1	0	1	2	3	1	2	0	1	4	4	0	1	7	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:93247529C>T	ENST00000446394.1	+	12	1297	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	HECTD2_ENST00000298068.5_Silent_p.I395I|HECTD2_ENST00000371667.1_Silent_p.I45I|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_Intron	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	395					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	p.I395I(1)		breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TGATAAACATCGCAAGGGTAA	0.313													T	93247529	C	T	93247529	2	4	348	1	0	0	0	0	0	0	0	1	7095	874	31	1		1	HECTD2	10	93247529	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	1782408	93247529	42287218	52	22764											
C10orf76	79591	broad.mit.edu	37	chr10	103783291	103783291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgacagcatcatacccatgCtccctacgacttgggggatg	10	8	10	13	2	1	0	1	0	0	0	2	3	2	1	2	2	4	2	2	2	2	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:103783291C>G	ENST00000370033.4	-	8	731	c.612G>C	c.(610-612)gaG>gaC	p.E204D		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	204						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		CATACCCATGCTCCCTACGAC	0.438													G	103783291	C	G	103783291	3	3	348	1	0	0	0	0	1	0	0	0	1627	796	28	4	1533	4	C10orf76	10	103783291	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	10535762	103783291	31751456	53	22765											
TCF7L2	6934	broad.mit.edu	37	chr10	114905777	114905780	+	Frame_Shift_Del	DEL	CAAC	CAAC	-																															cccttctttgtaggcaaggtCaaccagtgtacccaatcacg																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr10:114905777_114905780delCAAC	ENST00000355995.4	+	8	1303_1306	c.796_799delCAAC	c.(796-801)caaccafs	p.QP266fs	TCF7L2_ENST00000369397.4_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000536810.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000349937.2_Frame_Shift_Del_p.QP262fs|TCF7L2_ENST00000538897.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000534894.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000355717.4_Frame_Shift_Del_p.QP290fs|TCF7L2_ENST00000545257.1_Frame_Shift_Del_p.QP266fs|TCF7L2_ENST00000369389.1_5'UTR|TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000369395.1_Frame_Shift_Del_p.QP291fs|TCF7L2_ENST00000352065.5_Frame_Shift_Del_p.QP243fs|TCF7L2_ENST00000543371.1_Frame_Shift_Del_p.QP266fs			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	266	Mediates interaction with MAD2L2.|Pro-rich.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		TAGGCAAGGTCAACCAGTGTACCC	0.505			T	VTI1A	colorectal								-	114905780	CAAC	-	114905777	7	5	348	1	0	1	0	1	0	0	0	0	15798	827	29	0	971	0	TCF7L2	10	114905777	Frame_Shift_Del	DEL	CAAC	TCGA-DH-A7UR-01A-11D-A33T-08	11122486	114905777	20628970	54	22766											
ANO9	338440	broad.mit.edu	37	chr11	418476	418476	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagcctctgccttccatgCcacatcttctcacgcagcct	6	10	5	20	1	3	0	1	0	3	0	5	0	4	0	6	0	4	1	6	0	0	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:418476C>T	ENST00000332826.6	-	23	2328	c.2244G>A	c.(2242-2244)tgG>tgA	p.W748*		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	748						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						GCCTTCCATGCCACATCTTCT	0.622													T	418476	C	T	418476	4	4	348	1	0	0	0	0	0	1	0	0	704	740	26	2	108	2	ANO9	11	418476	Nonsense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		418476	134588040	55	22767											
SERGEF	26297	broad.mit.edu	37	chr11	17981080	17981080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcggtggtcttgaacagggGagaaatgaatcttgcttttc	9	14	12	6	1	2	3	0	2	2	1	4	4	2	3	0	4	2	1	0	4	3	5			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:17981080G>A	ENST00000265965.5	-	9	1099	c.948C>T	c.(946-948)ctC>ctT	p.L316L	SERGEF_ENST00000532265.1_Intron|SERGEF_ENST00000528200.1_Intron	NM_012139.2	NP_036271.1	Q9UGK8	SRGEF_HUMAN	secretion regulating guanine nucleotide exchange factor	316					negative regulation of protein secretion|signal transduction	cytoplasm|nucleus	protein binding|Ran guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|central_nervous_system(1)|large_intestine(5)|lung(5)	12						TTGAACAGGGGAGAAATGAAT	0.488													A	17981080	G	A	17981080	2	1	348	1	0	0	0	0	0	0	0	1	14170	1161	41	2		2	SERGEF	11	17981080	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	17562604	17981080	117025436	56	22768											
OR4C3	256144	broad.mit.edu	37	chr11	48346856	48346856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatctcttatgagtgcTgcatggctcagctctttgga	8	13	10	10	0	3	1	1	1	2	0	4	3	3	2	1	2	4	4	1	2	2	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:48346856T>C	ENST00000319856.4	+	1	385	c.364T>C	c.(364-366)Tgc>Cgc	p.C122R		NM_001004702.1	NP_001004702.1	Q8NH37	OR4C3_HUMAN	olfactory receptor, family 4, subfamily C, member 3	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	32						TTATGAGTGCTGCATGGCTCA	0.458													C	48346856	T	C	48346856	3	2	348	1	0	0	0	0	1	0	0	0	11126	1580	55	3	366	3	OR4C3	11	48346856	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	30365776	48346856	86659660	57	22769											
OR4S2	219431	broad.mit.edu	37	chr11	55418641	55418641	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacctgttagcaaaggacAaaaccatctcctatgtgggg	12	10	10	9	0	1	1	0	1	1	0	2	2	1	2	3	3	2	2	3	3	5	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:55418641A>C	ENST00000312422.2	+	1	262	c.262A>C	c.(262-264)Aaa>Caa	p.K88Q		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AGCAAAGGACAAAACCATCTC	0.418													C	55418641	A	C	55418641	3	2	348	1	0	0	0	0	1	0	0	0	11159	131	5	5	264	5	OR4S2	11	55418641	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	7071785	55418641	79587875	58	22770											
TIGD3	220359	broad.mit.edu	37	chr11	65124210	65124210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcccattaccgacacCggctgttgggcaaactggct	9	9	11	12	2	0	0	0	0	0	0	0	1	0	0	3	4	2	4	3	4	3	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:65124210C>T	ENST00000309880.5	+	2	1138	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_145719.2	NP_663771.1	Q6B0B8	TIGD3_HUMAN	tigger transposable element derived 3	311	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(3)|large_intestine(1)|lung(9)|prostate(2)|skin(2)	17						TTACCGACACCGGCTGTTGGG	0.667													T	65124210	C	T	65124210	3	4	348	1	0	0	0	0	1	0	0	0	15997	643	23	1	933	1	TIGD3	11	65124210	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	9705569	65124210	69882306	59	22771											
MRGPRD	116512	broad.mit.edu	37	chr11	68747839	68747839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgctgggagctcctcCgcacccagacaaagagggtc	9	5	12	15	1	0	2	0	0	0	2	3	3	2	3	4	2	2	3	4	2	1	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr11:68747839C>T	ENST00000309106.3	-	1	616	c.617G>A	c.(616-618)cGg>cAg	p.R206Q		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	206						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R206Q(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GGAGCTCCTCCGCACCCAGAC	0.627													T	68747839	C	T	68747839	3	4	348	1	0	0	0	0	1	0	0	0	9839	652	23	1	351	1	MRGPRD	11	68747839	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	3623629	68747839	66258677	60	22772											
PKP2	5318	broad.mit.edu	37	chr12	33031009	33031009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagcggcctgacctgccCgacagtgagccctgccgtca	7	5	11	18	3	1	2	1	2	0	0	1	3	1	2	6	1	4	0	6	1	0	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:33031009C>T	ENST00000340811.4	-	3	913	c.805G>A	c.(805-807)Ggg>Agg	p.G269R	PKP2_ENST00000070846.6_Missense_Mutation_p.G269R	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	269					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGACCTGCCCGACAGTGAGC	0.662													T	33031009	C	T	33031009	3	4	348	1	0	0	0	0	1	0	0	0	12062	652	23	1	1888	1	PKP2	12	33031009	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		33031009	100820886	61	22773											
ARID2	196528	broad.mit.edu	37	chr12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-																															ggtctctacaccagagtcacTactttaggcggattcgcgaa																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actactttafs	p.TL56fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	56	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"N, S, F"		hepatocellular carcinoma								-	46123903	TACTT	-	46123899	7	5	348	1	0	1	0	1	0	0	0	0	918	1509	53	0	171	0	ARID2	12	46123899	Frame_Shift_Del	DEL	TACTT	TCGA-DH-A7UR-01A-11D-A33T-08	13092890	46123899	87727996	62	22774											
FMNL3	91010	broad.mit.edu	37	chr12	50045824	50045824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggtccaggtcggagggtgGcatgccctcactcagctctg	7	8	14	12	1	3	0	2	0	1	0	5	1	4	1	2	5	2	2	2	5	1	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:50045824G>A	ENST00000335154.5	-	14	1728	c.1495C>T	c.(1495-1497)Cca>Tca	p.P499S	FMNL3_ENST00000352151.5_Missense_Mutation_p.P448S|FMNL3_ENST00000550488.1_Missense_Mutation_p.P499S|FMNL3_ENST00000293590.5_Missense_Mutation_p.P499S	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	499	Pro-rich.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TCGGAGGGTGGCATGCCCTCA	0.662													A	50045824	G	A	50045824	3	1	348	1	0	0	0	0	1	0	0	0	6002	1203	42	2	1640	2	FMNL3	12	50045824	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	3921925	50045824	83806071	63	22775											
MFSD5	84975	broad.mit.edu	37	chr12	53647528	53647528	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtaccgtatcgccacCtccaagaggtaccaccttca	9	9	6	17	2	1	1	1	0	0	1	4	1	3	1	7	1	2	3	7	1	4	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:53647528C>T	ENST00000534842.1	+	2	1377	c.1230C>T	c.(1228-1230)acC>acT	p.T410T	MFSD5_ENST00000329548.4_Silent_p.T303T	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	303					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GTATCGCCACCTCCAAGAGGT	0.587													T	53647528	C	T	53647528	2	4	348	1	0	0	0	0	0	0	0	1	9609	668	24	2		2	MFSD5	12	53647528	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	3601704	53647528	80204367	64	22776											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917307	54917307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagtcaccggaagaacCgcagcattgtcaccaagtga	13	6	11	11	2	2	3	2	2	0	2	2	5	2	4	3	1	2	2	3	1	3	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:54917307C>T	ENST00000293373.6	+	19	2087	c.2008C>T	c.(2008-2010)Cgc>Tgc	p.R670C	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R620C	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	670					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CCGGAAGAACCGCAGCATTGT	0.542													T	54917307	C	T	54917307	3	4	348	1	0	0	0	0	1	0	0	0	10298	652	23	1	2082	1	NCKAP1L	12	54917307	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	1269779	54917307	78934588	65	22777											
NAV3	89795	broad.mit.edu	37	chr12	78515813	78515815	+	In_Frame_Del	DEL	ATT	ATT	-																															atgcccagccctagtaccacAttagcgcggcaaggcagtct																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:78515813_78515815delATT	ENST00000397909.2	+	16	4016_4018	c.3843_3845delATT	c.(3841-3846)acatta>aca	p.L1282del	NAV3_ENST00000266692.7_Intron|NAV3_ENST00000536525.2_In_Frame_Del_p.L1282del|NAV3_ENST00000228327.6_In_Frame_Del_p.L1282del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1282	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAGTACCACATTAGCGCGGCAA	0.562										HNSCC(70;0.22)			-	78515815	ATT	-	78515813	7	5	348	1	0	1	0	1	0	0	0	0	10261	204	8	0	3905	0	NAV3	12	78515813	In_Frame_Del	DEL	ATT	TCGA-DH-A7UR-01A-11D-A33T-08	23598506	78515813	55336082	66	22778											
NOS1	4842	broad.mit.edu	37	chr12	117691483	117691483	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactctcaaagttgtctcTgaggtcgggcccatcgcctg	7	10	11	13	2	2	1	1	1	2	0	6	1	2	1	2	2	1	2	2	2	1	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:117691483T>C	ENST00000317775.6	-	17	3293	c.2608A>G	c.(2608-2610)Aga>Gga	p.R870G	NOS1_ENST00000338101.4_Missense_Mutation_p.R904G|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	870	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AAGTTGTCTCTGAGGTCGGGC	0.557													C	117691483	T	C	117691483	3	2	348	1	0	0	0	0	1	0	0	0	10617	1588	55	3	1748	3	NOS1	12	117691483	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	39175670	117691483	16160412	67	22779											
PITPNM2	57605	broad.mit.edu	37	chr12	123481449	123481449	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccttcgtcatggctgtagGggctgaggctggggagaggg	6	8	20	7	1	1	2	1	1	0	1	2	3	1	2	1	7	1	4	1	7	1	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr12:123481449G>T	ENST00000280562.5	-	11	1686	c.1481C>A	c.(1480-1482)cCc>cAc	p.P494H	PITPNM2_ENST00000542749.1_Missense_Mutation_p.P494H|PITPNM2_ENST00000392428.1_Missense_Mutation_p.P215H|PITPNM2_ENST00000320201.4_Missense_Mutation_p.P494H			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	494					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		ATGGCTGTAGGGGCTGAGGCT	0.662													T	123481449	G	T	123481449	3	4	348	1	0	0	0	0	1	0	0	0	12028	1232	43	4	2628	4	PITPNM2	12	123481449	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	5789966	123481449	10370446	68	22780											
LATS2	26524	broad.mit.edu	37	chr13	21549235	21549235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttggtgctaccttcgctgGcatcgttccaagggctttct	4	14	10	13	2	1	0	0	0	1	0	4	0	2	0	3	3	2	5	3	3	2	5	rs45523141	byFrequency	TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:21549235G>A	ENST00000382592.4	-	8	3446	c.3041C>T	c.(3040-3042)gCc>gTc	p.A1014V	LATS2_ENST00000542899.1_Missense_Mutation_p.A1014V	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1014	AGC-kinase C-terminal.		A -> G (in dbSNP:rs45523141).		cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		ACCTTCGCTGGCATCGTTCCA	0.547													A	21549235	G	A	21549235	3	1	348	1	0	0	0	0	1	0	0	0	8706	1203	42	2	229	2	LATS2	13	21549235	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		21549235	93620643	69	22781											
N4BP2L2	10443	broad.mit.edu	37	chr13	33111032	33111032	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagttttctcttggattcTgtgaaaatcagcattactat	10	17	6	8	0	3	1	1	1	2	0	5	2	4	2	1	1	2	2	1	1	4	6			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:33111032T>A	ENST00000267068.3	-	2	297	c.133A>T	c.(133-135)Aga>Tga	p.R45*	N4BP2L2_ENST00000399396.3_Intron|N4BP2L2_ENST00000357505.6_Intron|N4BP2L2_ENST00000504114.1_Intron|N4BP2L2_ENST00000446957.2_Nonsense_Mutation_p.R45*	NM_014887.2	NP_055702.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	45										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		TCTTGGATTCTGTGAAAATCA	0.388													A	33111032	T	A	33111032	4	1	348	1	0	0	0	0	0	1	0	0	10188	1588	55	5	3499	5	N4BP2L2	13	33111032	Nonsense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	11561797	33111032	82058846	70	22782											
ELF1	1997	broad.mit.edu	37	chr13	41556170	41556170	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattcaaatactaggtcgttCtgttggacaacagcagccat	13	11	8	9	1	2	0	1	0	1	0	3	1	2	1	1	2	4	3	1	2	5	5			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr13:41556170C>G	ENST00000239882.3	-	2	335	c.21G>C	c.(19-21)caG>caC	p.Q7H	ELF1_ENST00000442101.1_Missense_Mutation_p.Q7H|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	7					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CTAGGTCGTTCTGTTGGACAA	0.363													G	41556170	C	G	41556170	3	3	348	1	0	0	0	0	1	0	0	0	5094	912	32	4	1870	4	ELF1	13	41556170	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	8445138	41556170	73613708	71	22783											
FSCB	84075	broad.mit.edu	37	chr14	44973903	44973903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaattcctgccacctgcGgtgactgaaattctgtagac	9	11	10	11	1	1	3	0	2	1	1	2	4	2	4	3	2	2	1	3	2	3	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr14:44973903G>A	ENST00000340446.4	-	1	2579	c.2288C>T	c.(2287-2289)cCg>cTg	p.P763L		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	763						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TGCCACCTGCGGTGACTGAAA	0.433													A	44973903	G	A	44973903	3	1	348	1	0	0	0	0	1	0	0	0	6118	1116	39	1	193	1	FSCB	14	44973903	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		44973903	62375637	72	22784											
AHNAK2	113146	broad.mit.edu	37	chr14	105408233	105408233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagcctggacctccaggtCggcggaaggggcctgaatgc	7	5	16	13	2	0	1	0	1	0	0	2	3	1	3	5	6	2	0	5	6	2	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr14:105408233C>T	ENST00000333244.5	-	7	13674	c.13555G>A	c.(13555-13557)Gac>Aac	p.D4519N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4519						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTCCAGGTCGGCGGAAGGG	0.627													T	105408233	C	T	105408233	3	4	348	1	0	0	0	0	1	0	0	0	415	884	31	1	3836	1	AHNAK2	14	105408233	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	60434330	105408233	1941307	73	22785											
MYO9A	4649	broad.mit.edu	37	chr15	72231199	72231199	+	Frame_Shift_Del	DEL	T	T	-																															ccaaacacacttactgttggTttttttcatttagagcattc																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:72231199delT	ENST00000356056.5	-	16	2844	c.2372delA	c.(2371-2373)aacfs	p.N791fs	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Frame_Shift_Del_p.N772fs|MYO9A_ENST00000424560.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000564571.1_Frame_Shift_Del_p.N791fs|MYO9A_ENST00000566885.1_Frame_Shift_Del_p.N411fs	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	791					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTACTGTTGGTTTTTTTCATT	0.303													-	72231199	T	-	72231199	7	5	348	1	0	1	0	1	0	0	0	0	10160	1725	60	0	5382	0	MYO9A	15	72231199	Frame_Shift_Del	DEL	T	TCGA-DH-A7UR-01A-11D-A33T-08		72231199	30300193	74	22786											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	4	10	17	10	2	0	1	0	1	0	0	1	1	0	1	3	5	2	1	3	5	1	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:90631839T>C	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G|IDH2_ENST00000540499.2_Missense_Mutation_p.R120G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								C	90631839	T	C	90631839	3	2	348	1	0	0	0	0	1	0	0	0	7553	1579	55	3	876	3	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	18400640	90631839	11899553	75	22787											
FES	2242	broad.mit.edu	37	chr15	91428384	91428384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaagtggatggcccagCgggtcaagagtgacagggag	12	5	18	6	1	1	3	1	2	0	2	1	6	1	5	1	4	1	0	1	4	2	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr15:91428384C>T	ENST00000328850.3	+	2	251	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	FES_ENST00000394302.1_Missense_Mutation_p.R37W|FES_ENST00000450438.2_Missense_Mutation_p.R37W|FES_ENST00000414248.2_Missense_Mutation_p.R37W|FES_ENST00000444422.2_Missense_Mutation_p.R37W|FES_ENST00000394300.3_Missense_Mutation_p.R37W	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	37	FCH.|Important for interaction with membranes containing phosphoinositides.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GATGGCCCAGCGGGTCAAGAG	0.637													T	91428384	C	T	91428384	3	4	348	1	0	0	0	0	1	0	0	0	5869	759	27	1	111	1	FES	15	91428384	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	796545	91428384	11103008	76	22788											
TRAF7	84231	broad.mit.edu	37	chr16	2225554	2225554	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaggagctcacaggcctCaaccactgggtgcgggccct	10	5	13	13	1	2	1	2	0	0	1	2	2	2	2	3	4	3	1	3	4	3	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr16:2225554C>T	ENST00000326181.6	+	17	1689	c.1557C>T	c.(1555-1557)ctC>ctT	p.L519L		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	519					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						TCACAGGCCTCAACCACTGGG	0.637													T	2225554	C	T	2225554	2	4	348	1	0	0	0	0	0	0	0	1	16547	813	29	2		2	TRAF7	16	2225554	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		2225554	88129199	77	22789											
CENPBD1	92806	broad.mit.edu	37	chr16	90038172	90038172	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctcgaatggtcgccacTgtagagatagcaagatctaa	13	10	9	9	2	2	2	0	0	2	2	4	4	2	2	1	1	1	2	1	1	6	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr16:90038172T>C	ENST00000314994.3	-	1	770	c.159A>G	c.(157-159)acA>acG	p.T53T	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	53	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						TGGTCGCCACTGTAGAGATAG	0.463													C	90038172	T	C	90038172	2	2	348	1	0	0	0	0	0	0	0	1	3258	1567	55	3		3	CENPBD1	16	90038172	Silent	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	87812618	90038172	316581	78	22790											
MYH3	4621	broad.mit.edu	37	chr17	10547674	10547674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taagtaacacaaacctcaaaGatttcaaagcctgcaatgtc	17	9	5	10	0	2	1	2	0	0	1	3	1	2	1	2	0	4	2	2	0	6	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:10547674G>A	ENST00000583535.1	-	14	1491	c.1404C>T	c.(1402-1404)atC>atT	p.I468I	MYH3_ENST00000226209.7_Silent_p.I468I	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	468	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						AAACCTCAAAGATTTCAAAGC	0.403													A	10547674	G	A	10547674	2	1	348	1	0	0	0	0	0	0	0	1	10112	932	33	2		2	MYH3	17	10547674	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		10547674	70647536	79	22791											
CRYBA1	1411	broad.mit.edu	37	chr17	27581333	27581333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggctctcatgcccagacttCgcagatccaatcgattcgcc	8	9	9	15	3	1	2	1	0	1	2	6	3	2	2	3	1	1	2	3	1	1	2	rs147836280		TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:27581333C>T	ENST00000225387.3	+	6	615	c.614C>T	c.(613-615)tCg>tTg	p.S205L		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	205	Beta/gamma crystallin 'Greek key' 4.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			GCCCAGACTTCGCAGATCCAA	0.443													T	27581333	C	T	27581333	3	4	348	1	0	0	0	0	1	0	0	0	3938	893	31	1	636	1	CRYBA1	17	27581333	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	17033659	27581333	53613877	80	22792											
MLX	6945	broad.mit.edu	37	chr17	40722112	40722113	+	Frame_Shift_Del	DEL	CA	CA	-																															gcatcatggattccctgttcCagtccttcaatgcctccatc																										TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:40722112_40722113delCA	ENST00000246912.4	+	7	804_805	c.751_752delCA	c.(751-753)cagfs	p.Q251fs	MLX_ENST00000346833.4_Frame_Shift_Del_p.Q167fs|MLX_ENST00000435881.2_Frame_Shift_Del_p.Q197fs	NM_170607.2	NP_733752.1	Q9UH92	MLX_HUMAN	MLX, MAX dimerization protein	251					energy reserve metabolic process|negative regulation of transcription, DNA-dependent|positive regulation of cellular metabolic process	cytoplasm|nucleus	DNA binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			kidney(3)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	10		all_cancers(22;4.26e-05)|Breast(137;0.000153)|all_epithelial(22;0.00148)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTCCCTGTTCCAGTCCTTCAAT	0.55													-	40722113	CA	-	40722112	7	5	348	1	0	1	0	1	0	0	0	0	9710	595	21	0	777	0	MLX	17	40722112	Frame_Shift_Del	DEL	CA	TCGA-DH-A7UR-01A-11D-A33T-08	13140779	40722112	40473098	81	22793											
QRICH2	84074	broad.mit.edu	37	chr17	74277003	74277003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccctgcacctgcaggatgGcactctgcacacggcccagc	8	5	10	18	1	1	0	0	0	1	0	1	1	1	1	3	3	4	4	3	3	0	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr17:74277003G>A	ENST00000262765.5	-	9	3976	c.3797C>T	c.(3796-3798)gCc>gTc	p.A1266V		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1266							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CTGCAGGATGGCACTCTGCAC	0.617													A	74277003	G	A	74277003	3	1	348	1	0	0	0	0	1	0	0	0	12968	1203	42	2	1238	2	QRICH2	17	74277003	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	33554891	74277003	6918207	82	22794											
SEMA6B	10501	broad.mit.edu	37	chr19	4544495	4544495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgttaccagcaggttcacCgacaccagccccgcgcggtc	8	5	11	17	5	1	0	1	0	0	0	2	2	1	0	5	2	3	3	5	2	1	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:4544495C>T	ENST00000586582.1	-	17	2095	c.1785G>A	c.(1783-1785)tcG>tcA	p.S595S	SEMA6B_ENST00000301293.3_Silent_p.S595S|SEMA6B_ENST00000586965.1_Silent_p.S595S	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	595					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTTCACCGACACCAGCC	0.736													T	4544495	C	T	4544495	2	4	348	1	0	0	0	0	0	0	0	1	14133	639	23	1		1	SEMA6B	19	4544495	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08		4544495	54584488	83	22795											
FBN3	84467	broad.mit.edu	37	chr19	8161785	8161785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacacaagccccgcctggcGacagtttgtaccctcgggtg	7	7	11	16	3	0	0	0	0	0	0	1	1	0	0	5	2	2	2	5	2	2	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:8161785G>A	ENST00000600128.1	-	43	5807	c.5393C>T	c.(5392-5394)tCg>tTg	p.S1798L	FBN3_ENST00000270509.2_Missense_Mutation_p.S1798L|FBN3_ENST00000601739.1_Missense_Mutation_p.S1798L			Q75N90	FBN3_HUMAN	fibrillin 3	1798	EGF-like 27; 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						CCCGCCTGGCGACAGTTTGTA	0.617													A	8161785	G	A	8161785	3	1	348	1	0	0	0	0	1	0	0	0	5753	1059	37	1	3124	1	FBN3	19	8161785	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	3617290	8161785	50967198	84	22796											
CCNE1	898	broad.mit.edu	37	chr19	30313174	30313174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctctgtgtcctggatgttGactgccttgaatttccttat	6	18	8	9	0	1	2	0	2	1	0	4	3	3	3	3	1	1	1	3	1	2	4			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:30313174G>A	ENST00000262643.3	+	10	1147	c.868G>A	c.(868-870)Gac>Aac	p.D290N	CCNE1_ENST00000357943.5_Missense_Mutation_p.D247N|CCNE1_ENST00000444983.2_Missense_Mutation_p.D275N	NM_001238.2	NP_001229.1	P24864	CCNE1_HUMAN	cyclin E1	290					androgen receptor signaling pathway|cell division|positive regulation of transcription, DNA-dependent|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm	androgen receptor binding|protein kinase binding|transcription coactivator activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|skin(1)	20	all_cancers(1;2.19e-31)|all_epithelial(1;1.49e-30)|all_lung(1;1.37e-11)|Lung NSC(1;2.35e-11)|Ovarian(5;0.000902)|Breast(6;0.0203)|Esophageal squamous(110;0.195)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|Epithelial(1;6.85e-98)|all cancers(1;1.38e-94)|OV - Ovarian serous cystadenocarcinoma(1;1.38e-90)|STAD - Stomach adenocarcinoma(5;5.8e-07)|GBM - Glioblastoma multiforme(4;0.0394)|Lung(7;0.092)|LUAD - Lung adenocarcinoma(5;0.115)|BRCA - Breast invasive adenocarcinoma(6;0.183)|COAD - Colon adenocarcinoma(1;0.188)|Colorectal(1;0.202)			CCTGGATGTTGACTGCCTTGA	0.463			A		serous ovarian								A	30313174	G	A	30313174	3	1	348	1	0	0	0	0	1	0	0	0	2950	1290	45	2	902	2	CCNE1	19	30313174	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	22151389	30313174	28815809	85	22797											
CIC	23152	broad.mit.edu	37	chr19	42797278	42797278	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggagcctggcccagtcCgagagccaactgccccagag	8	5	12	16	1	1	2	0	0	1	2	2	4	2	3	6	2	4	0	6	2	1	0			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:42797278C>T	ENST00000572681.2	+	16	6429	c.6361C>T	c.(6361-6363)Cga>Tga	p.R2121*	CIC_ENST00000575354.2_Nonsense_Mutation_p.R1214*|CIC_ENST00000160740.3_Nonsense_Mutation_p.R1212*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGCCCAGTCCGAGAGCCAAC	0.706			"Mis, F, S"		oligodendroglioma								T	42797278	C	T	42797278	4	4	348	1	0	0	0	0	0	1	0	0	3454	644	23	1	3698	1	CIC	19	42797278	Nonsense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	12484104	42797278	16331705	86	22798											
ZNF845	91664	broad.mit.edu	37	chr19	53856007	53856007	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagagaaaccttacaagtgTaatgagtgtggcaagacctt	14	9	12	6	0	0	3	0	1	0	2	0	5	0	4	2	2	2	2	2	2	5	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chr19:53856007T>G	ENST00000458035.1	+	4	2196	c.2079T>G	c.(2077-2079)tgT>tgG	p.C693W	ZNF845_ENST00000595091.1_Missense_Mutation_p.C693W	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	693				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CTTACAAGTGTAATGAGTGTG	0.423													G	53856007	T	G	53856007	3	3	348	1	0	0	0	0	1	0	0	0	18290	1644	57	5	2089	5	ZNF845	19	53856007	Missense_Mutation	SNP	T	TCGA-DH-A7UR-01A-11D-A33T-08	11058729	53856007	5272976	87	22799											
PTCHD1	139411	broad.mit.edu	37	chrX	23398283	23398283	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattggtgaccataagcctGgccactctcactgcagccgg	8	8	12	13	1	1	1	1	1	1	0	2	2	1	2	4	4	3	1	4	4	1	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:23398283G>A	ENST00000379361.4	+	2	1787	c.927G>A	c.(925-927)ctG>ctA	p.L309L		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	309	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CCATAAGCCTGGCCACTCTCA	0.517													A	23398283	G	A	23398283	2	1	348	1	0	0	0	0	0	0	0	1	12817	1335	47	2		2	PTCHD1	23	23398283	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08		23398283	131872277	88	22800											
CXorf58	254158	broad.mit.edu	37	chrX	23953455	23953455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggagtgatctcaaaccGtctacgaaatgaaatgaagt	14	10	10	7	2	3	3	1	3	3	0	4	5	3	4	1	1	2	0	1	1	5	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:23953455G>A	ENST00000379211.3	+	7	1247	c.698G>A	c.(697-699)cGt>cAt	p.R233H		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	233										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						ATCTCAAACCGTCTACGAAAT	0.373													A	23953455	G	A	23953455	3	1	348	1	0	0	0	0	1	0	0	0	4147	1145	40	1	720	1	CXorf58	23	23953455	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	555172	23953455	131317105	89	22801											
NUDT11	55190	broad.mit.edu	37	chrX	51239216	51239216	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacctcgtcctcgcgttcGctccggaagcacaggcacgc	7	6	12	16	6	0	0	0	0	0	0	5	2	2	2	3	3	1	4	3	3	1	1			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:51239216G>A	ENST00000375992.3	-	1	232	c.81C>T	c.(79-81)agC>agT	p.S27S		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	27	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					CCTCGCGTTCGCTCCGGAAGC	0.682										HNSCC(48;0.14)			A	51239216	G	A	51239216	2	1	348	1	0	0	0	0	0	0	0	1	10803	1078	38	1		1	NUDT11	23	51239216	Silent	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	27285761	51239216	104031344	90	22802											
FAM120C	54954	broad.mit.edu	37	chrX	54161406	54161406	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagacagcccaattggcaaAggggctgttctgcagcatgg	10	7	15	9	0	1	1	0	0	1	1	1	2	1	1	1	5	3	5	1	5	2	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:54161406A>C	ENST00000375180.2	-	7	1530	c.1474T>G	c.(1474-1476)Ttt>Gtt	p.F492V	FAM120C_ENST00000328235.4_Missense_Mutation_p.F492V	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	492										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CAATTGGCAAAGGGGCTGTTC	0.522													C	54161406	A	C	54161406	3	2	348	1	0	0	0	0	1	0	0	0	5463	72	3	5	1856	5	FAM120C	23	54161406	Missense_Mutation	SNP	A	TCGA-DH-A7UR-01A-11D-A33T-08	2922190	54161406	101109154	91	22803											
NAP1L2	4674	broad.mit.edu	37	chrX	72433893	72433893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgtcttttttccagtaaggGttggtacatttcagcaaact	10	15	8	8	1	2	0	1	0	1	0	3	0	3	0	1	2	3	4	1	2	3	7			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:72433893G>A	ENST00000373517.3	-	1	791	c.436C>T	c.(436-438)Ccc>Tcc	p.P146S	NAP1L2_ENST00000536638.1_Missense_Mutation_p.P4S	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	146					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TCCAGTAAGGGTTGGTACATT	0.383													A	72433893	G	A	72433893	3	1	348	1	0	0	0	0	1	0	0	0	10233	1261	44	2	950	2	NAP1L2	23	72433893	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	18272487	72433893	82836667	92	22804											
LPAR4	2846	broad.mit.edu	37	chrX	78011462	78011462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataatggtggtgaattaatgCtagaatccaccttttaggta	13	14	9	5	0	0	2	0	1	0	1	1	2	1	2	2	3	1	2	2	3	7	6			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:78011462C>T	ENST00000435339.3	+	2	1482	c.1096C>T	c.(1096-1098)Cta>Tta	p.L366L		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGAATTAATGCTAGAATCCAC	0.363													T	78011462	C	T	78011462	2	4	348	1	0	0	0	0	0	0	0	1	8977	796	28	2		2	LPAR4	23	78011462	Silent	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	5577569	78011462	77259098	93	22805											
GRIA3	2892	broad.mit.edu	37	chrX	122536950	122536950	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagtggctctcgaaaaGtaagtaaccaaaacagacat	18	7	8	8	1	2	1	1	0	1	1	3	2	2	1	1	1	2	3	1	1	7	2			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:122536950G>T	ENST00000264357.5	+	8	1477		c.e8+1		GRIA3_ENST00000371256.5_Splice_Site|GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000541091.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity	p.?(3)		breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CTCTCGAAAAGTAAGTAACCA	0.318													T	122536950	G	T	122536950	5	4	348	1	0	0	0	0	0	0	1	0	6824	1043	36	4	1216	4	GRIA3	23	122536950	Splice_Site	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	44525488	122536950	32733610	94	22806											
CCDC160	347475	broad.mit.edu	37	chrX	133379730	133379730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaataacagagccttggaGttgcttagaaaatactatgc	16	10	9	6	0	0	3	0	0	0	3	0	4	0	4	1	1	5	2	1	1	7	6			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:133379730G>T	ENST00000517294.1	+	3	1283	c.900G>T	c.(898-900)gaG>gaT	p.E300D	CCDC160_ENST00000370809.4_Missense_Mutation_p.E300D			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	300										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GAGCCTTGGAGTTGCTTAGAA	0.373													T	133379730	G	T	133379730	3	4	348	1	0	0	0	0	1	0	0	0	2819	1020	36	4	902	4	CCDC160	23	133379730	Missense_Mutation	SNP	G	TCGA-DH-A7UR-01A-11D-A33T-08	10842780	133379730	21890830	95	22807											
L1CAM	3897	broad.mit.edu	37	chrX	153135292	153135292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgattctccaggtgacCtctggttggggcctgccctg	3	12	13	13	1	2	2	0	2	2	0	3	2	2	2	5	4	1	2	5	4	0	3			TCGA-DH-A7UR-01A-11D-A33T-08	TCGA-DH-A7UR-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04342d6-2f32-40ec-a731-3e7bd18ffffe	bfcd7244-5a98-40a6-9328-e7fe970754e9	g.chrX:153135292C>A	ENST00000370060.1	-	10	1278	c.1089G>T	c.(1087-1089)gaG>gaT	p.E363D	L1CAM_ENST00000370055.1_Missense_Mutation_p.E358D|L1CAM_ENST00000538883.1_Missense_Mutation_p.E365D|L1CAM_ENST00000361699.4_Missense_Mutation_p.E363D|L1CAM_ENST00000370057.3_Missense_Mutation_p.E363D|L1CAM_ENST00000361981.3_Missense_Mutation_p.E358D|L1CAM_ENST00000543994.1_Missense_Mutation_p.E365D	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	363	Ig-like C2-type 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGGTGACCTCTGGTTGGG	0.657													A	153135292	C	A	153135292	3	1	348	1	0	0	0	0	1	0	0	0	8647	680	24	4	2764	4	L1CAM	23	153135292	Missense_Mutation	SNP	C	TCGA-DH-A7UR-01A-11D-A33T-08	19755562	153135292	2135268	96	22808											
CLCA4	22802	broad.mit.edu	37	chr1	87043729	87043729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccactgaatagagccgCgtacataccaggctgggtag	10	7	12	12	2	0	2	0	1	0	1	1	2	1	2	4	2	3	3	4	2	5	4			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr1:87043729C>T	ENST00000370563.3	+	12	2138	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	RP4-651E10.4_ENST00000456587.1_RNA	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	699						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATAGAGCCGCGTACATACCA	0.403													T	87043729	C	T	87043729	3	4	349	1	0	0	0	0	1	0	0	0	3490	768	27	1	2142	1	CLCA4	1	87043729	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		87043729	162206892	1	22809											
SMC6	79677	broad.mit.edu	37	chr2	17847757	17847757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccatcttcagtatcaagtCcatggcaattctcctattaa	11	14	5	11	0	4	0	2	0	2	0	6	0	5	0	3	1	1	2	3	1	5	5			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:17847757C>A	ENST00000448223.2	-	27	3360	c.3091G>T	c.(3091-3093)Gac>Tac	p.D1031Y	SMC6_ENST00000381272.4_Missense_Mutation_p.D1057Y|SMC6_ENST00000351948.4_Missense_Mutation_p.D1031Y|SMC6_ENST00000402989.1_Missense_Mutation_p.D1031Y	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	1031					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AGTATCAAGTCCATGGCAATT	0.373													A	17847757	C	A	17847757	3	1	349	1	0	0	0	0	1	0	0	0	14881	855	30	4	192	4	SMC6	2	17847757	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		17847757	225351616	2	22810											
LTBP1	4052	broad.mit.edu	37	chr2	33518314	33518314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catgtgttcatgccacaaagGctatacccggactccggacc	10	8	9	14	2	1	0	1	0	0	0	2	2	2	2	4	3	2	2	4	3	3	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:33518314G>A	ENST00000404816.2	+	20	3553	c.3200G>A	c.(3199-3201)gGc>gAc	p.G1067D	LTBP1_ENST00000418533.2_Missense_Mutation_p.G741D|LTBP1_ENST00000354476.3_Missense_Mutation_p.G1068D|LTBP1_ENST00000407925.1_Missense_Mutation_p.G741D|LTBP1_ENST00000272273.5_Missense_Mutation_p.G7D|LTBP1_ENST00000402934.1_Missense_Mutation_p.G688D|LTBP1_ENST00000404525.1_Missense_Mutation_p.G688D|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000390003.4_Missense_Mutation_p.G742D			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1067	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCCACAAAGGCTATACCCGG	0.413													A	33518314	G	A	33518314	3	1	349	1	0	0	0	0	1	0	0	0	9143	1203	42	2	3333	2	LTBP1	2	33518314	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	15670557	33518314	209681059	3	22811											
LRP1B	53353	broad.mit.edu	37	chr2	141264436	141264436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaaattgcttgggaatgCatactttattatggcacatg	14	13	8	6	0	0	0	0	0	0	0	0	1	0	1	0	2	4	3	0	2	6	6			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:141264436C>T	ENST00000389484.3	-	53	9421	c.8450G>A	c.(8449-8451)tGc>tAc	p.C2817Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2817	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTGGGAATGCATACTTTATT	0.383										TSP Lung(27;0.18)			T	141264436	C	T	141264436	3	4	349	1	0	0	0	0	1	0	0	0	9025	710	25	2	5505	2	LRP1B	2	141264436	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	107746122	141264436	101934937	4	22812											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	349	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	67848676	209113112	34086261	5	22813											
SPEG	10290	broad.mit.edu	37	chr2	220299766	220299766	+	Frame_Shift_Del	DEL	C	C	-																															caccccccagccccggagtgCccccgaaaagggccaaggtg																										TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr2:220299766delC	ENST00000312358.7	+	1	199	c.67delC	c.(67-69)cccfs	p.P24fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	24					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CCCCGGAGTGCCCCCGAAAAG	0.756													-	220299766	C	-	220299766	7	5	349	1	0	1	0	1	0	0	0	0	15132	739	26	0	69	0	SPEG	2	220299766	Frame_Shift_Del	DEL	C	TCGA-DH-A7US-01A-11D-A33T-08	11186654	220299766	22899607	6	22814											
STAB1	23166	broad.mit.edu	37	chr3	52546660	52546660	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttctaccaatggcttaagGtaggacagggcagaatgctg	11	10	12	8	0	2	1	0	0	2	1	2	2	2	2	1	4	2	4	1	4	5	4			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:52546660G>A	ENST00000321725.6	+	28	3103		c.e28+1			NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1						cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ATGGCTTAAGGTAGGACAGGG	0.562													A	52546660	G	A	52546660	5	1	349	1	0	0	0	0	0	0	1	0	15333	1275	44	2	3138	2	STAB1	3	52546660	Splice_Site	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		52546660	145475770	7	22815											
DNASE1L3	1776	broad.mit.edu	37	chr3	58191243	58191243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtgtttcttccaagcCgagagctaatcacatagttg	11	14	8	8	1	2	1	1	0	1	1	3	2	3	1	2	0	2	3	2	0	5	7			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:58191243C>T	ENST00000483681.1	-	5	856	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.R92Q|DNASE1L3_ENST00000486455.1_Intron|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.R92Q			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	92					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		TCTTCCAAGCCGAGAGCTAAT	0.378													T	58191243	C	T	58191243	3	4	349	1	0	0	0	0	1	0	0	0	4702	652	23	1	666	1	DNASE1L3	3	58191243	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	5644583	58191243	139831187	8	22816											
OR5H14	403273	broad.mit.edu	37	chr3	97868352	97868352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatctcatcaccatcatgggGaatcttggtctgattgctgt	8	15	9	9	0	5	1	3	1	3	0	6	2	5	2	1	3	1	1	1	3	2	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:97868352G>A	ENST00000437310.1	+	1	183	c.123G>A	c.(121-123)ggG>ggA	p.G41G		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCATCATGGGGAATCTTGGTC	0.403													A	97868352	G	A	97868352	2	1	349	1	0	0	0	0	0	0	0	1	11236	1161	41	2		2	OR5H14	3	97868352	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	39677109	97868352	100154078	9	22817											
ZBTB20	26137	broad.mit.edu	37	chr3	114058118	114058118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctctccccggtggaggcGcatgtgcacgttgagggagc	5	9	15	12	3	1	1	0	1	1	0	3	3	2	3	2	4	2	3	2	4	0	2			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:114058118G>A	ENST00000462705.1	-	12	2562	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	ZBTB20_ENST00000464560.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.R581C|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R581C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R581C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R654C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CGGTGGAGGCGCATGTGCACG	0.552													A	114058118	G	A	114058118	3	1	349	1	0	0	0	0	1	0	0	0	17630	1087	38	1	269	1	ZBTB20	3	114058118	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	16189766	114058118	83964312	10	22818											
ZBTB20	26137	broad.mit.edu	37	chr3	114070191	114070191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcacgcgtagagtgccGagtagatcctgtccacgctg	8	8	14	11	4	0	2	0	0	0	2	2	4	2	3	3	1	2	4	3	1	2	2			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr3:114070191G>A	ENST00000462705.1	-	11	1336	c.515C>T	c.(514-516)tCg>tTg	p.S172L	ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172L|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172L|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172L|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245L	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672													A	114070191	G	A	114070191	3	1	349	1	0	0	0	0	1	0	0	0	17630	1059	37	1	1499	1	ZBTB20	3	114070191	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	12073	114070191	83952239	11	22819											
GRK4	2868	broad.mit.edu	37	chr4	3015524	3015524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggctctaaatgagaaaaGaattctggagaaagtgcaaa	18	9	10	4	0	2	3	0	1	2	3	2	5	2	3	0	2	1	2	0	2	8	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:3015524G>T	ENST00000398052.4	+	8	1053	c.710G>T	c.(709-711)aGa>aTa	p.R237I	GRK4_ENST00000398051.4_Missense_Mutation_p.R205I|GRK4_ENST00000504933.1_Missense_Mutation_p.R237I|GRK4_ENST00000345167.6_Missense_Mutation_p.R205I	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	237	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AATGAGAAAAGAATTCTGGAG	0.398													T	3015524	G	T	3015524	3	4	349	1	0	0	0	0	1	0	0	0	6846	942	33	4	740	4	GRK4	4	3015524	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		3015524	188138752	12	22820											
FRAS1	80144	broad.mit.edu	37	chr4	79328944	79328944	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatcaatgaaggcatcgtAtggtacaggcactcaggagc	13	7	12	9	1	2	1	2	1	0	0	3	3	2	2	0	4	2	4	0	4	4	2	rs115193980	by1000genomes	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:79328944A>G	ENST00000264895.6	+	31	4697	c.4257A>G	c.(4255-4257)gtA>gtG	p.V1419V	FRAS1_ENST00000325942.6_Silent_p.V1419V	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1418					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AAGGCATCGTATGGTACAGGC	0.567													G	79328944	A	G	79328944	2	3	349	1	0	0	0	0	0	0	0	1	6093	436	16	3		3	FRAS1	4	79328944	Silent	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08	76313420	79328944	111825332	13	22821											
TNIP3	79931	broad.mit.edu	37	chr4	122085268	122085268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctagatgtgccctgtaCaaaatgtgccatggaagctg	11	11	10	9	0	1	1	0	0	1	1	1	2	1	2	2	1	4	2	2	1	5	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr4:122085268C>T	ENST00000454328.1	-	3	240	c.13G>A	c.(13-15)Gta>Ata	p.V5I	TNIP3_ENST00000057513.3_Missense_Mutation_p.V5I|TNIP3_ENST00000507879.1_Missense_Mutation_p.V75I|TNIP3_ENST00000509841.1_Missense_Mutation_p.V82I			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	5										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						GTGCCCTGTACAAAATGTGCC	0.398													T	122085268	C	T	122085268	3	4	349	1	0	0	0	0	1	0	0	0	16416	478	17	2	1008	2	TNIP3	4	122085268	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	42756324	122085268	69069008	14	22822											
CDH10	1008	broad.mit.edu	37	chr5	24492973	24492973	+	Frame_Shift_Del	DEL	A	A	-																															gattgacagcagctaaactgAaaaaaaatttctgtccacct																										TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:24492973delA	ENST00000264463.4	-	10	2084	c.1577delT	c.(1576-1578)ttcfs	p.F526fs	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	526	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		AGCTAAACTGAAAAAAAATTT	0.313										HNSCC(23;0.051)			-	24492973	A	-	24492973	7	5	349	1	0	1	0	1	0	0	0	0	3126	246	9	0	801	0	CDH10	5	24492973	Frame_Shift_Del	DEL	A	TCGA-DH-A7US-01A-11D-A33T-08		24492973	156422287	15	22823											
SLC26A2	1836	broad.mit.edu	37	chr5	149359993	149359993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgggctcaaccttcctcgGactaatggtgtgggctcact	6	12	11	12	1	2	0	2	0	0	0	4	1	3	1	2	4	1	2	2	4	2	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:149359993G>A	ENST00000286298.4	+	3	1105	c.837G>A	c.(835-837)cgG>cgA	p.R279R		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	279			R -> W (in AO2).			integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCTTCCTCGGACTAATGGTG	0.463													A	149359993	G	A	149359993	2	1	349	1	0	0	0	0	0	0	0	1	14611	1161	41	2		2	SLC26A2	5	149359993	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	124867020	149359993	31555267	16	22824											
ARSI	340075	broad.mit.edu	37	chr5	149677437	149677437	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacccaccagggtcgggtaCcagtcagtgatgtgcatcag	10	7	13	11	1	2	2	2	1	0	1	3	2	2	2	3	2	2	2	3	2	1	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:149677437C>T	ENST00000328668.7	-	2	1629	c.1050G>A	c.(1048-1050)tgG>tgA	p.W350*		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	350						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCGGGTACCAGTCAGTGA	0.637													T	149677437	C	T	149677437	4	4	349	1	0	0	0	0	0	1	0	0	999	508	18	2	663	2	ARSI	5	149677437	Nonsense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	317444	149677437	31237823	17	22825											
CDHR2	54825	broad.mit.edu	37	chr5	176016160	176016160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacctcctccgaggcCgacgtgttcgctgggagcat	6	10	11	14	4	2	0	1	0	1	0	5	3	4	1	4	2	1	3	4	2	0	2			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr5:176016160C>T	ENST00000510636.1	+	22	3259	c.2985C>T	c.(2983-2985)gcC>gcT	p.A995A	CDHR2_ENST00000261944.5_Silent_p.A995A|CDHR2_ENST00000506348.1_Silent_p.A995A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	995	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						CCTCCGAGGCCGACGTGTTCG	0.622													T	176016160	C	T	176016160	2	4	349	1	0	0	0	0	0	0	0	1	3149	639	23	1		1	CDHR2	5	176016160	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	26338723	176016160	4899100	18	22826											
ZNF184	7738	broad.mit.edu	37	chr6	27420810	27420810	+	Frame_Shift_Del	DEL	T	T	-																															aattcattatttacagggccTttttcccaactgggtattgt																										TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:27420810delT	ENST00000211936.6	-	6	812	c.528delA	c.(526-528)aaafs	p.K176fs	ZNF184_ENST00000377419.1_Frame_Shift_Del_p.K176fs	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	176					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTACAGGGCCTTTTTCCCAAC	0.408													-	27420810	T	-	27420810	7	5	349	1	0	1	0	1	0	0	0	0	17852	1606	56	0	1731	0	ZNF184	6	27420810	Frame_Shift_Del	DEL	T	TCGA-DH-A7US-01A-11D-A33T-08		27420810	143694257	19	22827											
LACE1	246269	broad.mit.edu	37	chr6	108841010	108841010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggatgatttggggctgagCcaggtaggcgatattaacat	11	11	14	5	1	0	2	0	2	0	0	0	4	0	3	1	5	2	2	1	5	3	4			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr6:108841010C>T	ENST00000368977.4	+	12	1500	c.1314C>T	c.(1312-1314)agC>agT	p.S438S		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	438							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGGGGCTGAGCCAGGTAGGCG	0.368													T	108841010	C	T	108841010	2	4	349	1	0	0	0	0	0	0	0	1	8654	738	26	2		2	LACE1	6	108841010	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	81420200	108841010	62274057	20	22828											
EPHB4	2050	broad.mit.edu	37	chr7	100417218	100417218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacaggctcaaatgggaCgggccccgtggctaaggagg	10	6	16	9	2	1	1	1	1	0	0	1	3	1	3	2	6	0	2	2	6	2	2	rs61735975	byFrequency	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr7:100417218C>T	ENST00000358173.3	-	6	1726	c.1258G>A	c.(1258-1260)Gtc>Atc	p.V420I	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.V420I	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	420	Fibronectin type-III 1.				cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.V420I(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					TCAAATGGGACGGGCCCCGTG	0.612													T	100417218	C	T	100417218	3	4	349	1	0	0	0	0	1	0	0	0	5218	536	19	1	1753	1	EPHB4	7	100417218	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		100417218	58721445	21	22829											
IFNW1	3467	broad.mit.edu	37	chr9	21141038	21141038	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcttgcatgtttgttgAtaagaacaaggatttcatga	11	17	8	5	0	3	3	1	2	2	1	3	4	3	4	0	1	2	3	0	1	3	6			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr9:21141038A>C	ENST00000380229.2	-	1	1106	c.532T>G	c.(532-534)Tca>Gca	p.S178A		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	178					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		ATGTTTGTTGATAAGAACAAG	0.398													C	21141038	A	C	21141038	3	2	349	1	0	0	0	0	1	0	0	0	7610	333	12	5	59	5	IFNW1	9	21141038	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08		21141038	120072393	22	22830											
DAB2IP	153090	broad.mit.edu	37	chr9	124528875	124528875	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctcatcagcgcctccctCttcctgcgcttcctctgccc	2	11	7	21	3	4	0	2	0	2	0	7	0	7	0	5	1	3	2	5	1	0	2			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr9:124528875C>G	ENST00000408936.3	+	9	1745	c.1563C>G	c.(1561-1563)ctC>ctG	p.L521L	DAB2IP_ENST00000309989.1_Silent_p.L397L|DAB2IP_ENST00000259371.2_Silent_p.L493L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	521	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GCGCCTCCCTCTTCCTGCGCT	0.632													G	124528875	C	G	124528875	2	3	349	1	0	0	0	0	0	0	0	1	4253	900	32	4		4	DAB2IP	9	124528875	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	103387837	124528875	16684556	23	22831											
DLG5	9231	broad.mit.edu	37	chr10	79555866	79555866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacagtggtcacatcgaaatGgccgcttctccgcttatagt	9	11	9	12	3	2	0	1	0	1	0	4	1	2	0	2	2	0	2	2	2	3	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr10:79555866G>T	ENST00000372391.2	-	29	5394	c.5389C>A	c.(5389-5391)Cat>Aat	p.H1797N	DLG5_ENST00000372388.2_Missense_Mutation_p.H1457N|DLG5_ENST00000459739.1_5'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	1797	Guanylate kinase-like.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ACATCGAAATGGCCGCTTCTC	0.522													T	79555866	G	T	79555866	3	4	349	1	0	0	0	0	1	0	0	0	4597	1348	47	4	386	4	DLG5	10	79555866	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		79555866	55978881	24	22832											
ELP4	26610	broad.mit.edu	37	chr11	31561248	31561248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactcacctttgctcttcaAgtatttcctggcagaaggaa	10	14	7	10	0	3	1	2	0	1	1	4	2	4	2	2	2	2	3	2	2	5	5			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:31561248A>G	ENST00000395934.2	+	3	306	c.299A>G	c.(298-300)aAg>aGg	p.K100R	ELP4_ENST00000379163.5_Missense_Mutation_p.K100R|ELP4_ENST00000350638.5_Missense_Mutation_p.K100R			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	100					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TTGCTCTTCAAGTATTTCCTG	0.348													G	31561248	A	G	31561248	3	3	349	1	0	0	0	0	1	0	0	0	5123	72	3	3	309	3	ELP4	11	31561248	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08		31561248	103445268	25	22833											
OR1S2	219958	broad.mit.edu	37	chr11	57971193	57971193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgactgtgagcaaagtgCcgaacctggcccgcatgaaa	13	6	12	10	2	0	4	0	3	0	1	0	5	0	4	3	1	3	2	3	1	3	0			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:57971193C>T	ENST00000302592.6	-	1	460	c.461G>A	c.(460-462)gGc>gAc	p.G154D		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				GAGCAAAGTGCCGAACCTGGC	0.488													T	57971193	C	T	57971193	3	4	349	1	0	0	0	0	1	0	0	0	11049	739	26	2	519	2	OR1S2	11	57971193	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	26409945	57971193	77035323	26	22834											
ZBTB16	7704	broad.mit.edu	37	chr11	114112981	114112981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggtccacgcgggcgtgCgcagctacatctgcagtgag	7	7	16	11	4	1	1	0	1	1	0	2	2	2	2	1	3	4	3	1	3	1	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:114112981C>T	ENST00000335953.4	+	5	1926	c.1546C>T	c.(1546-1548)Cgc>Tgc	p.R516C	ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA|ZBTB16_ENST00000392996.2_Missense_Mutation_p.R516C	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	516					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CGCGGGCGTGCGCAGCTACAT	0.627													T	114112981	C	T	114112981	3	4	349	1	0	0	0	0	1	0	0	0	17627	768	27	1	1560	1	ZBTB16	11	114112981	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	56141788	114112981	20893535	27	22835											
GRIK4	2900	broad.mit.edu	37	chr11	120776054	120776054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagatggaaggcaatgaccGctacgagggcttctgtgtgg	9	8	17	7	2	1	2	0	1	1	1	1	5	1	3	1	5	1	3	1	5	3	2			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:120776054G>A	ENST00000527524.2	+	13	1615	c.1328G>A	c.(1327-1329)cGc>cAc	p.R443H	GRIK4_ENST00000438375.2_Missense_Mutation_p.R443H	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	443					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	p.R443H(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GGCAATGACCGCTACGAGGGC	0.547													A	120776054	G	A	120776054	3	1	349	1	0	0	0	0	1	0	0	0	6831	1087	38	1	1370	1	GRIK4	11	120776054	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	6663073	120776054	14230462	28	22836											
OR8D1	283159	broad.mit.edu	37	chr11	124180055	124180055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaaggtgttaaaccccGcaatgataaaaagtagaagc	17	6	9	9	1	0	2	0	1	0	1	0	2	0	2	3	1	2	4	3	1	9	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:124180055G>A	ENST00000357821.2	-	1	678	c.608C>T	c.(607-609)gCg>gTg	p.A203V		NM_001002917.1	NP_001002917.1	Q8WZ84	OR8D1_HUMAN	olfactory receptor, family 8, subfamily D, member 1	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A203V(1)		kidney(1)|large_intestine(1)|lung(7)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0528)		GTTAAACCCCGCAATGATAAA	0.488													A	124180055	G	A	124180055	3	1	349	1	0	0	0	0	1	0	0	0	11307	1087	38	1	321	1	OR8D1	11	124180055	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	3404001	124180055	10826461	29	22837											
NFRKB	4798	broad.mit.edu	37	chr11	129739660	129739660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctgcacgatgcggatcGtggcagctggttttgcttct	4	13	13	11	3	1	0	0	0	1	0	3	2	2	1	1	3	4	5	1	3	0	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr11:129739660G>A	ENST00000446488.3	-	23	3363	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M	NFRKB_ENST00000524794.1_Missense_Mutation_p.T1112M|NFRKB_ENST00000524746.1_Missense_Mutation_p.T1087M|NFRKB_ENST00000304521.5_Missense_Mutation_p.T1087M	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1087					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GATGCGGATCGTGGCAGCTGG	0.592													A	129739660	G	A	129739660	3	1	349	1	0	0	0	0	1	0	0	0	10460	1145	40	1	655	1	NFRKB	11	129739660	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	5559605	129739660	5266856	30	22838											
RFX4	5992	broad.mit.edu	37	chr12	107144431	107144431	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgtgcttgatgcattttAgatacacgggaagctataac	13	12	9	7	1	0	2	0	1	0	1	0	3	0	3	0	1	5	3	0	1	6	6			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:107144431A>G	ENST00000392842.1	+	17	2210		c.e17-1		RFX4_ENST00000229387.5_Splice_Site|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Splice_Site	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)						transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GATGCATTTTAGATACACGGG	0.423													G	107144431	A	G	107144431	5	3	349	1	0	0	0	0	0	0	1	0	13353	434	15	3	2066	3	RFX4	12	107144431	Splice_Site	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08		107144431	26707464	31	22839											
SDS	10993	broad.mit.edu	37	chr12	113836598	113836598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggcaccacgatggtggCggggacgccgagttgcctgg	5	6	19	11	4	0	0	0	0	0	0	0	3	0	1	3	6	1	3	3	6	0	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr12:113836598C>T	ENST00000257549.4	-	4	369	c.247G>A	c.(247-249)Gcc>Acc	p.A83T		NM_006843.2	NP_006834.2	P20132	SDHL_HUMAN	serine dehydratase	83					gluconeogenesis|L-serine catabolic process|pyruvate biosynthetic process	cytoplasm	L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|protein homodimerization activity|pyridoxal phosphate binding			large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(1)	11					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACGATGGTGGCGGGGACGCCG	0.662													T	113836598	C	T	113836598	3	4	349	1	0	0	0	0	1	0	0	0	14068	768	27	1	759	1	SDS	12	113836598	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6692167	113836598	20015297	32	22840											
ATP7B	540	broad.mit.edu	37	chr13	52516581	52516581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccggtgcactcaaagggCgctcactgtgggccaggatg	7	7	16	11	2	2	0	2	0	0	0	2	1	2	1	2	5	1	2	2	5	1	0			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr13:52516581C>T	ENST00000242839.4	-	15	3509	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	ATP7B_ENST00000418097.2_Missense_Mutation_p.R1053H|ATP7B_ENST00000400366.3_Missense_Mutation_p.R1007H|ATP7B_ENST00000344297.5_Missense_Mutation_p.R911H|ATP7B_ENST00000448424.2_Missense_Mutation_p.R1040H|ATP7B_ENST00000417240.2_Missense_Mutation_p.R329H|ATP7B_ENST00000400370.3_Missense_Mutation_p.R688H|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	1118					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		ACTCAAAGGGCGCTCACTGTG	0.557									Wilson disease				T	52516581	C	T	52516581	3	4	349	1	0	0	0	0	1	0	0	0	1196	768	27	1	1072	1	ATP7B	13	52516581	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		52516581	62653297	33	22841											
CFL2	1073	broad.mit.edu	37	chr14	35182753	35182754	+	Frame_Shift_Del	DEL	TG	TG	-																															ttgatgacttcatcattcacTgtaactccagaagcctgaaa																										TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr14:35182753_35182754delTG	ENST00000341223.3	-	2	168_169	c.17_18delCA	c.(16-18)acafs	p.T6fs	CFL2_ENST00000555765.1_5'UTR|CFL2_ENST00000556161.1_5'UTR|CFL2_ENST00000298159.6_Frame_Shift_Del_p.T6fs	NM_001243645.1|NM_021914.7	NP_001230574.1|NP_068733.1	Q9Y281	COF2_HUMAN	cofilin 2 (muscle)	6	ADF-H.					cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(3)|endometrium(2)|lung(3)	8	Breast(36;0.0361)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;6.07e-06)|Lung(238;2.23e-05)|Epithelial(34;0.0387)|all cancers(34;0.0814)	GBM - Glioblastoma multiforme(112;0.0424)		CATCATTCACTGTAACTCCAGA	0.332													-	35182754	TG	-	35182753	7	5	349	1	0	1	0	1	0	0	0	0	3321	1567	55	0	494	0	CFL2	14	35182753	Frame_Shift_Del	DEL	TG	TCGA-DH-A7US-01A-11D-A33T-08		35182753	72166787	34	22842											
SERPINA3	12	broad.mit.edu	37	chr14	95085747	95085747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagacaagatggaggaaGtggaagccatgctgctccca	14	6	12	9	0	1	2	1	0	0	2	2	5	2	5	2	3	3	2	2	3	4	0			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr14:95085747G>A	ENST00000467132.1	+	3	2007	c.859G>A	c.(859-861)Gtg>Atg	p.V287M	SERPINA3_ENST00000482740.1_Missense_Mutation_p.V69M|SERPINA3_ENST00000393078.3_Missense_Mutation_p.V287M|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.V287M			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	287					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GATGGAGGAAGTGGAAGCCAT	0.577													A	95085747	G	A	95085747	3	1	349	1	0	0	0	0	1	0	0	0	14183	1029	36	2	865	2	SERPINA3	14	95085747	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	59902994	95085747	12263793	35	22843											
GANC	2595	broad.mit.edu	37	chr15	42614214	42614214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcaggagcaaaaagcGtaaggtaaaataagccaaca	18	5	10	8	1	1	0	1	0	0	0	1	1	1	1	1	2	5	5	1	2	7	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:42614214G>A	ENST00000318010.8	+	11	1529	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	430					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AGCAAAAAGCGTAAGGTAAAA	0.423													A	42614214	G	A	42614214	3	1	349	1	0	0	0	0	1	0	0	0	6288	1145	40	1	1331	1	GANC	15	42614214	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		42614214	59917178	36	22844											
IGDCC4	57722	broad.mit.edu	37	chr15	65682659	65682659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctggaggcaggggtggtcCcctctggataggcatgtctg	5	9	18	9	0	2	0	0	0	2	0	3	2	3	2	2	8	0	3	2	8	1	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:65682659C>T	ENST00000352385.2	-	13	2451	c.2242G>A	c.(2242-2244)Gga>Aga	p.G748R		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	748						integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						AGGGGTGGTCCCCTCTGGATA	0.498													T	65682659	C	T	65682659	3	4	349	1	0	0	0	0	1	0	0	0	7627	632	22	2	1542	2	IGDCC4	15	65682659	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	23068445	65682659	36848733	37	22845											
GRAMD2	196996	broad.mit.edu	37	chr15	72460091	72460091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactaccttgatatccttgcCaaagaggctggcatggaagc	11	10	10	10	0	0	2	0	1	0	1	1	3	1	3	3	3	4	2	3	3	5	5			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:72460091C>T	ENST00000309731.7	-	5	371	c.358G>A	c.(358-360)Ggc>Agc	p.G120S		NM_001012642.2	NP_001012660.1	Q8IUY3	GRAM2_HUMAN	GRAM domain containing 2	120	GRAM.					integral to membrane				cervix(2)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	13						ATATCCTTGCCAAAGAGGCTG	0.587													T	72460091	C	T	72460091	3	4	349	1	0	0	0	0	1	0	0	0	6805	594	21	2	738	2	GRAMD2	15	72460091	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6777432	72460091	30071301	38	22846											
RASGRF1	5923	broad.mit.edu	37	chr15	79296448	79296448	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttgcgggtggcgcgCggggacttggggggttcacc	5	7	20	9	4	1	1	1	0	0	1	1	3	1	2	1	7	2	1	1	7	1	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:79296448C>T	ENST00000419573.3	-	16	2467	c.2193G>A	c.(2191-2193)ccG>ccA	p.P731P	RASGRF1_ENST00000394745.3_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P715P|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	731	N-terminal Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTGGCGCGCGGGGACTTGG	0.622													T	79296448	C	T	79296448	2	4	349	1	0	0	0	0	0	0	0	1	13160	755	27	1		1	RASGRF1	15	79296448	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6836357	79296448	23234944	39	22847											
FAM169B	283777	broad.mit.edu	37	chr15	98982908	98982908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctgccctgccagcccGgcatcctcctcttccactcc	3	9	9	20	1	1	0	0	0	1	0	5	0	5	0	7	3	3	2	7	3	0	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr15:98982908G>A	ENST00000558256.1	-	7	780	c.531C>T	c.(529-531)gcC>gcT	p.A177A	FAM169B_ENST00000332908.4_Silent_p.A177A	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	177										large_intestine(3)|lung(3)|urinary_tract(1)	7						CTGCCAGCCCGGCATCCTCCT	0.582													A	98982908	G	A	98982908	2	1	349	1	0	0	0	0	0	0	0	1	5533	1103	39	1		1	FAM169B	15	98982908	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	19686460	98982908	3548484	40	22848											
EIF4A1	1973	broad.mit.edu	37	chr17	7480734	7480734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttcatgagggaccccattCggattcttgtcaagaaggaa	12	10	11	8	1	3	2	2	1	1	1	4	5	3	5	2	3	0	1	2	3	3	4			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr17:7480734C>T	ENST00000293831.8	+	7	713	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Missense_Mutation_p.R233W|EIF4A1_ENST00000577269.1_Missense_Mutation_p.R233W	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	233	Helicase ATP-binding.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GGACCCCATTCGGATTCTTGT	0.532													T	7480734	C	T	7480734	3	4	349	1	0	0	0	0	1	0	0	0	5065	875	31	1	723	1	EIF4A1	17	7480734	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		7480734	73714476	41	22849											
C18orf25	147339	broad.mit.edu	37	chr18	43833711	43833711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaaaacatctggcaatgCgccactcaatgaagaaatta	17	8	7	9	1	2	3	1	2	1	1	2	3	2	3	1	1	2	1	1	1	7	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr18:43833711C>T	ENST00000282059.6	+	4	1321	c.947C>T	c.(946-948)gCg>gTg	p.A316V	C18orf25_ENST00000321319.6_Missense_Mutation_p.A255V	NM_145055.3	NP_659492	Q96B23	CR025_HUMAN	chromosome 18 open reading frame 25	316								p.A316V(1)		central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	11						TCTGGCAATGCGCCACTCAAT	0.408													T	43833711	C	T	43833711	3	4	349	1	0	0	0	0	1	0	0	0	1917	768	27	1	957	1	C18orf25	18	43833711	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		43833711	34243537	42	22850											
MATK	4145	broad.mit.edu	37	chr19	3784192	3784192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccccagctgccagcagccCctcctgtccactggtgtggt	4	8	11	18	1	0	0	0	0	0	0	2	0	2	0	7	2	4	2	7	2	0	0			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:3784192C>T	ENST00000310132.6	-	5	690	c.292G>A	c.(292-294)Ggg>Agg	p.G98R	MATK_ENST00000585778.1_Missense_Mutation_p.G98R|MATK_ENST00000395045.2_Missense_Mutation_p.G99R|MATK_ENST00000395040.2_Missense_Mutation_p.G57R	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	98	SH3.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCAGCAGCCCCTCCTGTCCA	0.687													T	3784192	C	T	3784192	3	4	349	1	0	0	0	0	1	0	0	0	9407	623	22	2	1271	2	MATK	19	3784192	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		3784192	55344791	43	22851											
SMARCA4	6597	broad.mit.edu	37	chr19	11141553	11141553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatcatttttgacagcgActggaatcctcaccaggtaa	11	12	9	9	1	2	2	2	2	0	0	3	4	3	3	2	2	1	1	2	2	2	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:11141553A>G	ENST00000358026.2	+	25	3814	c.3530A>G	c.(3529-3531)gAc>gGc	p.D1177G	SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1177G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1177G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1177G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1177G|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1177G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1177	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TTTGACAGCGACTGGAATCCT	0.627			"F, N, Mis"		NSCLC								G	11141553	A	G	11141553	3	3	349	1	0	0	0	0	1	0	0	0	14864	275	10	3	3624	3	SMARCA4	19	11141553	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08	7357361	11141553	47987430	44	22852											
ZNF799	90576	broad.mit.edu	37	chr19	12502322	12502322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgagttgtttcgtgtcttCgaagggaagtggaagcactg	8	13	15	5	2	1	1	0	1	1	0	3	4	1	3	0	2	1	3	0	2	3	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:12502322C>T	ENST00000419318.1	-	4	1543	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	ZNF799_ENST00000430385.3_Missense_Mutation_p.R297Q|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R297Q(1)|p.R84Q(1)		breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						TTCGTGTCTTCGAAGGGAAGT	0.423													T	12502322	C	T	12502322	3	4	349	1	0	0	0	0	1	0	0	0	18265	884	31	1	1045	1	ZNF799	19	12502322	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	1360769	12502322	46626661	45	22853											
CIC	23152	broad.mit.edu	37	chr19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagatcctgggcgagtggtgGtatgccctggggcccaagga	8	7	17	9	1	0	1	0	0	0	1	1	3	1	2	3	6	1	1	3	6	3	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:42791828G>A	ENST00000572681.2	+	6	3509	c.3441G>A	c.(3439-3441)tgG>tgA	p.W1147*	CIC_ENST00000575354.2_Nonsense_Mutation_p.W238*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCGAGTGGTGGTATGCCCTGG	0.617			"Mis, F, S"		oligodendroglioma								A	42791828	G	A	42791828	4	1	349	1	0	0	0	0	0	1	0	0	3454	1270	44	2	732	2	CIC	19	42791828	Nonsense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	30289506	42791828	16337155	46	22854											
PNMAL2	57469	broad.mit.edu	37	chr19	46998531	46998531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacaaactccaccagggcGgcctgggccttctcgttcat	7	9	9	16	2	2	0	1	0	1	0	5	0	4	0	5	3	1	1	5	3	1	2			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:46998531G>A	ENST00000599531.1	-	1	1224	c.192C>T	c.(190-192)gcC>gcT	p.A64A	PNMAL2_ENST00000377655.2_Silent_p.A64A|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_3'UTR	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	64										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		ccaccagggcggcctgggcct	0.627													A	46998531	G	A	46998531	2	1	349	1	0	0	0	0	0	0	0	1	12235	1103	39	1		1	PNMAL2	19	46998531	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	4206703	46998531	12130452	47	22855											
STRN4	29888	broad.mit.edu	37	chr19	47228631	47228631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggttccacatctagcgccGcattcctgtgggatgacaga	9	10	11	11	2	1	2	0	1	1	1	3	3	3	3	3	2	1	2	3	2	2	4			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr19:47228631G>A	ENST00000391910.3	-	11	1901	c.1451C>T	c.(1450-1452)gCg>gTg	p.A484V	STRN4_ENST00000539396.1_Missense_Mutation_p.A358V|STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.A477V			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	477						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		ATCTAGCGCCGCATTCCTGTG	0.597													A	47228631	G	A	47228631	3	1	349	1	0	0	0	0	1	0	0	0	15427	1087	38	1	859	1	STRN4	19	47228631	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	230100	47228631	11900352	48	22856											
SEC23B	10483	broad.mit.edu	37	chr20	18529342	18529342	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagacatcattttgcccgGcaggacctgacccagtccct	9	9	8	15	1	1	2	1	1	0	1	2	3	2	3	4	2	2	1	4	2	1	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:18529342G>A	ENST00000336714.3	+	16	2265	c.1833G>A	c.(1831-1833)cgG>cgA	p.R611R	SEC23B_ENST00000377475.3_Silent_p.R611R|SEC23B_ENST00000377465.1_Silent_p.R611R|SEC23B_ENST00000262544.2_Silent_p.R611R	NM_006363.4|NM_032985.4|NM_032986.3	NP_006354.2|NP_116780.1|NP_116781.1	Q15437	SC23B_HUMAN	Sec23 homolog B (S. cerevisiae)	611					ER to Golgi vesicle-mediated transport|intracellular protein transport	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	32						ATTTTGCCCGGCAGGACCTGA	0.463													A	18529342	G	A	18529342	2	1	349	1	0	0	0	0	0	0	0	1	14085	1190	42	2		2	SEC23B	20	18529342	Silent	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		18529342	44496178	49	22857											
ACSS2	55902	broad.mit.edu	37	chr20	33501271	33501271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtggccatgctggcatgtgCccgcattggggctttgcact	4	11	15	11	1	0	0	0	0	0	0	0	0	0	0	2	5	3	5	2	5	0	2	rs112012777	byFrequency	TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:33501271C>T	ENST00000360596.2	+	4	753	c.542C>T	c.(541-543)gCc>gTc	p.A181V	ACSS2_ENST00000336325.4_Missense_Mutation_p.A131V|ACSS2_ENST00000253382.5_Missense_Mutation_p.A181V|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	181					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGGCATGTGCCCGCATTGGG	0.572													T	33501271	C	T	33501271	3	4	349	1	0	0	0	0	1	0	0	0	189	739	26	2	556	2	ACSS2	20	33501271	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	14971929	33501271	29524249	50	22858											
DLGAP4	22839	broad.mit.edu	37	chr20	35060261	35060261	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcgaggcccgcttcccCgggcagaacaccctgccagg	6	3	13	19	4	0	1	0	0	0	1	1	2	1	1	6	3	2	2	6	3	1	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:35060261C>A	ENST00000373913.3	+	3	621	c.141C>A	c.(139-141)ccC>ccA	p.P47P	DLGAP4_ENST00000401952.2_Silent_p.P47P|DLGAP4_ENST00000373907.2_Silent_p.P47P|DLGAP4_ENST00000339266.5_Silent_p.P47P			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	47					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCGCTTCCCCGGGCAGAACA	0.672													A	35060261	C	A	35060261	2	1	349	1	0	0	0	0	0	0	0	1	4601	639	23	4		4	DLGAP4	20	35060261	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	1558990	35060261	27965259	51	22859											
ZSWIM3	140831	broad.mit.edu	37	chr20	44505808	44505808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcacctggaccggctcaGcttccagagcagtaagatga	11	6	11	13	1	1	3	1	1	0	2	2	4	2	4	4	2	3	5	4	2	1	2			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:44505808G>T	ENST00000255152.2	+	2	820	c.611G>T	c.(610-612)aGc>aTc	p.S204I	ZSWIM3_ENST00000454862.2_Missense_Mutation_p.S198I	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	204							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				GACCGGCTCAGCTTCCAGAGC	0.527													T	44505808	G	T	44505808	3	4	349	1	0	0	0	0	1	0	0	0	18339	971	34	4	617	4	ZSWIM3	20	44505808	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08	9445547	44505808	18519712	52	22860											
ZNF831	128611	broad.mit.edu	37	chr20	57782005	57782005	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgttcagctgagagccagTagacttcgcacaccaacctg	10	9	10	12	1	1	2	1	1	0	2	2	3	1	2	3	0	3	4	3	0	2	3			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:57782005T>C	ENST00000371030.2	+	3	3921	c.3921T>C	c.(3919-3921)agT>agC	p.S1307S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1307						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGAGAGCCAGTAGACTTCGCA	0.552													C	57782005	T	C	57782005	2	2	349	1	0	0	0	0	0	0	0	1	18284	1635	57	3		3	ZNF831	20	57782005	Silent	SNP	T	TCGA-DH-A7US-01A-11D-A33T-08	13276197	57782005	5243515	53	22861											
CDH26	60437	broad.mit.edu	37	chr20	58571755	58571755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatggatgctctgtatccaAtgatgaaggccaccaaacac	13	8	9	11	0	1	2	0	2	1	0	2	3	2	3	3	2	2	3	3	2	4	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr20:58571755A>G	ENST00000348616.4	+	13	2258	c.1958A>G	c.(1957-1959)aAt>aGt	p.N653S	CDH26_ENST00000350849.6_Intron|CDH26_ENST00000497614.1_3'UTR|CDH26_ENST00000244047.5_Missense_Mutation_p.N653S|CDH26_ENST00000244049.3_Intron	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	653					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			TCTGTATCCAATGATGAAGGC	0.438													G	58571755	A	G	58571755	3	3	349	1	0	0	0	0	1	0	0	0	3140	101	4	3	2030	3	CDH26	20	58571755	Missense_Mutation	SNP	A	TCGA-DH-A7US-01A-11D-A33T-08	789750	58571755	4453765	54	22862											
MTMR3	8897	broad.mit.edu	37	chr22	30414015	30414015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtggacgacagctgtgcaCcatacccagccccaggcacc	9	5	10	17	1	0	0	0	0	0	0	0	2	0	1	5	2	4	3	5	2	1	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chr22:30414015C>G	ENST00000333027.3	+	16	2102	c.1774C>G	c.(1774-1776)Cca>Gca	p.P592A	MTMR3_ENST00000351488.3_Missense_Mutation_p.P592A|MTMR3_ENST00000323630.5_Missense_Mutation_p.P456A|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000406629.1_Missense_Mutation_p.P592A|MTMR3_ENST00000401950.2_Missense_Mutation_p.P592A	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	592					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			CAGCTGTGCACCATACCCAGC	0.632													G	30414015	C	G	30414015	3	3	349	1	0	0	0	0	1	0	0	0	10021	507	18	4	1828	4	MTMR3	22	30414015	Missense_Mutation	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08		30414015	20890551	55	22863											
ASMT	438	broad.mit.edu	37	chrX	1743284	1743284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggccacctggcagacGccgtgaggtgggggctgccc	4	5	19	13	2	0	2	0	1	0	1	0	2	0	2	4	6	1	3	4	6	0	0			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:1743284G>A	ENST00000381241.3	+	3	566	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ASMT_ENST00000381229.4_Missense_Mutation_p.A123T|ASMT_ENST00000381233.3_Missense_Mutation_p.A123T	NM_001171038.1|NM_004043.2	NP_001164509.1|NP_004034.2	P46597	HIOM_HUMAN	acetylserotonin O-methyltransferase	123					melatonin biosynthetic process|translation	cytosol	acetylserotonin O-methyltransferase activity|S-methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	16		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCTGGCAGACGCCGTGAGGTG	0.677													A	1743284	G	A	1743284	3	1	349	1	0	0	0	0	1	0	0	0	1050	1087	38	1	377	1	ASMT	23	1743284	Missense_Mutation	SNP	G	TCGA-DH-A7US-01A-11D-A33T-08		1743284	153527276	56	22864											
KAL1	3730	broad.mit.edu	37	chrX	8502385	8502385	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagagggtgggagctcCggcgtccggaacgtcttgat	7	8	17	9	4	1	3	0	2	1	1	3	5	3	5	2	4	2	2	2	4	2	1			TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:8502385C>A	ENST00000262648.3	-	13	2108	c.1959G>T	c.(1957-1959)ccG>ccT	p.P653P		NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	653					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						GTGGGAGCTCCGGCGTCCGGA	0.562													A	8502385	C	A	8502385	2	1	349	1	0	0	0	0	0	0	0	1	8032	639	23	4		4	KAL1	23	8502385	Silent	SNP	C	TCGA-DH-A7US-01A-11D-A33T-08	6759101	8502385	146768175	57	22865											
LONRF3	79836	broad.mit.edu	37	chrX	118108965	118108965	+	Frame_Shift_Del	DEL	A	A	-																															aaagtcctgctcacgcaggcAgacgccttggcgtcccgggg																										TCGA-DH-A7US-01A-11D-A33T-08	TCGA-DH-A7US-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4a94ac1-015a-4f95-be04-1ae1bc582df1	785b4ba0-ae5f-464b-a257-06ff197f176f	g.chrX:118108965delA	ENST00000304778.7	+	1	385	c.222delA	c.(220-222)gcafs	p.A74fs	LONRF3_ENST00000371628.3_Frame_Shift_Del_p.A74fs	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	74					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						TCACGCAGGCAGACGCCTTGG	0.672													-	118108965	A	-	118108965	7	5	349	1	0	1	0	1	0	0	0	0	8966	175	7	0	224	0	LONRF3	23	118108965	Frame_Shift_Del	DEL	A	TCGA-DH-A7US-01A-11D-A33T-08	109606580	118108965	37161595	58	22866											
RYR2	6262	broad.mit.edu	37	chr1	237889610	237889611	+	Splice_Site	INS	-	-	A																															cggagacattactgtctgggINSaagtacagtgctcaatggcc																										TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr1:237889610_237889611insA	ENST00000366574.2	+	75	11042		c.e75+2		RYR2_ENST00000542537.1_Splice_Site|RYR2_ENST00000360064.6_Splice_Site|RYR2_ENST00000609119.1_Splice_Site	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)						cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TACTGTCTGGGAAGTACAGTGC	0.312													A	237889611	-	A	237889610	8	5	350	1	0	1	1	0	0	0	1	0	13860	1188	41	0	11025	0	RYR2	1	237889610	Splice_Site	INS	-	TCGA-DH-A7UT-01A-12D-A34A-08		237889610	11361011	1	22867											
KRTCAP3	200634	broad.mit.edu	37	chr2	27665758	27665758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtccaggaaccttcttcGccctccactggtgagaggga	7	8	13	13	2	1	1	0	1	1	1	4	4	3	3	4	4	1	0	4	4	1	2			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:27665758G>A	ENST00000543753.1	+	3	310	c.263G>A	c.(262-264)cGc>cAc	p.R88H	KRTCAP3_ENST00000288873.3_Missense_Mutation_p.R88H|KRTCAP3_ENST00000407293.1_Missense_Mutation_p.R70H	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	88						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					AACCTTCTTCGCCCTCCACTG	0.587													A	27665758	G	A	27665758	3	1	350	1	0	0	0	0	1	0	0	0	8638	1087	38	1	273	1	KRTCAP3	2	27665758	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		27665758	215533615	2	22868											
SNRNP200	23020	broad.mit.edu	37	chr2	96970602	96970602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcttggagcacaagattcGagttctgaaaagatcaaaac	16	8	9	8	1	2	3	1	1	1	2	3	5	2	4	0	1	3	3	0	1	5	3			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:96970602G>A	ENST00000323853.5	-	2	127	c.50C>T	c.(49-51)tCg>tTg	p.S17L	SNRNP200_ENST00000349783.5_Missense_Mutation_p.S17L	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	17						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CACAAGATTCGAGTTCTGAAA	0.488													A	96970602	G	A	96970602	3	1	350	1	0	0	0	0	1	0	0	0	14946	1059	37	1	6536	1	SNRNP200	2	96970602	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08	69304844	96970602	146228771	3	22869											
ITGAV	3685	broad.mit.edu	37	chr2	187503008	187503008	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtttgtttcagacttTgtttcaggagttccaagagc	7	18	10	6	0	2	2	2	0	0	2	3	3	3	3	1	1	1	5	1	1	1	6			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:187503008T>C	ENST00000261023.3	+	9	1081	c.807T>C	c.(805-807)ttT>ttC	p.F269F	ITGAV_ENST00000433736.2_Silent_p.F223F|ITGAV_ENST00000374907.3_Silent_p.F233F	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	269					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTCAGACTTTGTTTCAGGAG	0.333													C	187503008	T	C	187503008	2	2	350	1	0	0	0	0	0	0	0	1	7946	1809	63	3		3	ITGAV	2	187503008	Silent	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08	90532406	187503008	55696365	4	22870											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	350	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	21610104	209113112	34086261	5	22871											
UGT1A1	54658	broad.mit.edu	37	chr2	234669406	234669406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctttccttccttgcagccCcatcgtggcccagtacctgt	4	12	7	18	1	0	0	0	0	0	0	3	0	2	0	7	1	3	2	7	1	1	4			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr2:234669406C>G	ENST00000360418.3	+	1	473	c.473C>G	c.(472-474)cCc>cGc	p.P158R	UGT1A10_ENST00000373445.1_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608383.1_Missense_Mutation_p.P158R|UGT1A4_ENST00000373409.3_Intron|UGT1A8_ENST00000305208.5_Missense_Mutation_p.P158R|UGT1A1_ENST00000609767.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A3_ENST00000482026.1_Intron|UGT1A9_ENST00000354728.4_Intron			P22309	UD11_HUMAN		158					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CCTTGCAGCCCCATCGTGGCC	0.557													G	234669406	C	G	234669406	3	3	350	1	0	0	0	0	1	0	0	0	17046	623	22	4	475	4	UGT1A1	2	234669406	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	25556294	234669406	8529967	6	22872											
NIPBL	25836	broad.mit.edu	37	chr5	37044506	37044506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatcctagagctagttgtaCcactgatggagcatccaagt	13	10	9	9	0	0	2	0	1	0	1	2	3	2	3	3	1	3	4	3	1	5	4			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr5:37044506C>G	ENST00000282516.8	+	35	6665	c.6166C>G	c.(6166-6168)Cca>Gca	p.P2056A	NIPBL_ENST00000448238.2_Missense_Mutation_p.P2056A	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2056					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GCTAGTTGTACCACTGATGGA	0.353													G	37044506	C	G	37044506	3	3	350	1	0	0	0	0	1	0	0	0	10504	507	18	4	6300	4	NIPBL	5	37044506	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		37044506	143870754	7	22873											
NIPBL	25836	broad.mit.edu	37	chr5	37046250	37046250	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttgaactattgatgtatTttacaaaacactcagatgaa	16	14	5	6	0	1	4	1	3	0	1	1	4	1	4	0	0	4	1	0	0	8	7			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr5:37046250T>G	ENST00000282516.8	+	38	7037	c.6538T>G	c.(6538-6540)Ttt>Gtt	p.F2180V	NIPBL_ENST00000448238.2_Missense_Mutation_p.F2180V	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2180					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATTGATGTATTTTACAAAACA	0.299													G	37046250	T	G	37046250	3	3	350	1	0	0	0	0	1	0	0	0	10504	1841	64	5	6684	5	NIPBL	5	37046250	Missense_Mutation	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08	1744	37046250	143869010	8	22874											
UNC5CL	222643	broad.mit.edu	37	chr6	41002719	41002719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccttctagggcagtgccatCgaaggcattgggccagaagg	9	7	15	10	1	1	1	0	0	1	1	2	2	1	1	3	4	1	2	3	4	3	3			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:41002719C>T	ENST00000244565.3	-	2	183	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	UNC5CL_ENST00000373164.1_Missense_Mutation_p.R32Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	32					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAGTGCCATCGAAGGCATTG	0.587													T	41002719	C	T	41002719	3	4	350	1	0	0	0	0	1	0	0	0	17096	884	31	1	1493	1	UNC5CL	6	41002719	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		41002719	130112348	9	22875											
KIAA0408	9729	broad.mit.edu	37	chr6	127771348	127771348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcagaccatctttgtgattCgtccttataaattcactttg	9	17	5	10	1	3	2	2	1	1	1	5	2	4	2	2	0	0	0	2	0	3	6			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:127771348C>T	ENST00000483725.3	-	3	621	c.285G>A	c.(283-285)acG>acA	p.T95T	SOGA3_ENST00000368268.2_3'UTR|SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	95							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		CTTTGTGATTCGTCCTTATAA	0.353													T	127771348	C	T	127771348	2	4	350	1	0	0	0	0	0	0	0	1	8232	871	31	1		1	KIAA0408	6	127771348	Silent	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	86768629	127771348	43343719	10	22876											
NMBR	4829	broad.mit.edu	37	chr6	142399907	142399907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attatccaagctactgatgcGagccacttctgaaaacaccg	13	9	7	12	2	1	2	0	2	1	0	2	3	2	2	3	0	5	1	3	0	5	3			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr6:142399907G>A	ENST00000258042.1	-	2	696	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CTACTGATGCGAGCCACTTCT	0.498													A	142399907	G	A	142399907	3	1	350	1	0	0	0	0	1	0	0	0	10563	1058	37	1	624	1	NMBR	6	142399907	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08	14628559	142399907	28715160	11	22877											
ZAN	7455	broad.mit.edu	37	chr7	100365618	100365618	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcctcctatggcggccaGctctgtgggctgtgtggtga	3	11	14	13	1	1	1	0	1	1	0	3	1	3	1	4	4	1	2	4	4	1	1			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr7:100365618G>A	ENST00000542585.1	+	0	5173				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ATGGCGGCCAGCTCTGTGGGC	0.602													A	100365618	G	A	100365618	1	1	350	0	1	0	0	0	0	0	0	0	17615	962	34	2		2	ZAN	7	100365618	RNA	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		100365618	58773045	12	22878											
RNF133	168433	broad.mit.edu	37	chr7	122338322	122338322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgccatctccggttctgaatCcttgctaaacaaagtctatg	10	13	7	11	1	3	1	0	1	3	0	5	1	4	1	3	1	3	2	3	1	5	4			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr7:122338322C>G	ENST00000340112.2	-	1	888	c.651G>C	c.(649-651)agG>agC	p.R217S	CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	217						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GGTTCTGAATCCTTGCTAAAC	0.378													G	122338322	C	G	122338322	3	3	350	1	0	0	0	0	1	0	0	0	13530	854	30	4	483	4	RNF133	7	122338322	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	21972704	122338322	36800341	13	22879											
ISCA1	81689	broad.mit.edu	37	chr9	88897352	88897352	+	Frame_Shift_Del	DEL	C	C	-																															gctcacagcccggacagttgCccggactaaggaagccgaca																										TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr9:88897352delC	ENST00000375991.4	-	1	92	c.22delG	c.(22-24)gcafs	p.A8fs	ISCA1_ENST00000452279.2_Frame_Shift_Del_p.A55fs|ISCA1_ENST00000326094.4_Frame_Shift_Del_p.A8fs	NM_030940.3	NP_112202.2	Q9BUE6	ISCA1_HUMAN	iron-sulfur cluster assembly 1	8					iron-sulfur cluster assembly	mitochondrion	iron-sulfur cluster binding|metal ion binding|structural molecule activity			endometrium(2)|large_intestine(1)|lung(4)|pancreas(1)	8				OV - Ovarian serous cystadenocarcinoma(323;5.4e-34)|Lung(182;0.0375)		CGGACAGTTGCCCGGACTAAG	0.711													-	88897352	C	-	88897352	7	5	350	1	0	1	0	1	0	0	0	0	7907	739	26	0	383	0	ISCA1	9	88897352	Frame_Shift_Del	DEL	C	TCGA-DH-A7UT-01A-12D-A34A-08		88897352	52316079	14	22880											
ZDHHC24	254359	broad.mit.edu	37	chr11	66311297	66311297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtggagcaggacgccggcgGcatgaagcagcaggcacagg	10	2	18	11	4	0	1	0	1	0	0	0	3	0	3	1	6	3	5	1	6	1	0			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr11:66311297G>A	ENST00000310442.3	-	2	671	c.437C>T	c.(436-438)gCc>gTc	p.A146V	ZDHHC24_ENST00000525925.1_5'UTR|ZDHHC24_ENST00000526986.1_Missense_Mutation_p.A146V	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24	146	Leu-rich.					integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						GACGCCGGCGGCATGAAGCAG	0.701											OREG0021110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66311297	G	A	66311297	3	1	350	1	0	0	0	0	1	0	0	0	17716	1203	42	2	425	2	ZDHHC24	11	66311297	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		66311297	68695219	15	22881											
ZNF384	171017	broad.mit.edu	37	chr12	6776964	6776964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgctccgccgtcttataCggggtcaggtcaaaggaaca	10	9	12	10	3	3	1	2	1	1	0	4	2	4	2	2	4	3	1	2	4	4	2	rs139957806		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr12:6776964C>T	ENST00000396795.1	-	9	1964	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	ZNF384_ENST00000396801.3_Silent_p.P550P|ZNF384_ENST00000319770.3_Silent_p.P473P|RP4-761J14.8_ENST00000589924.1_RNA|ZNF384_ENST00000361959.3_Silent_p.P550P|ZNF384_ENST00000355772.4_Silent_p.P434P|ZNF384_ENST00000396799.2_Silent_p.P489P			Q8TF68	ZN384_HUMAN	zinc finger protein 384	550	Ala-rich.|Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/ZNF384(4)	breast(3)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	18						CCGTCTTATACGGGGTCAGGT	0.617			T	"EWSR1, TAF15 "	ALL								T	6776964	C	T	6776964	2	4	350	1	0	0	0	0	0	0	0	1	17976	523	19	1		1	ZNF384	12	6776964	Silent	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		6776964	127074931	16	22882											
COQ6	51004	broad.mit.edu	37	chr14	74427895	74427895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagtgatgctgaccacaCggacttcatcgacacagctg	10	8	12	11	2	1	2	1	2	0	0	2	5	1	4	1	2	2	2	1	2	0	1	rs138207028		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr14:74427895C>T	ENST00000334571.2	+	9	951	c.911C>T	c.(910-912)aCg>aTg	p.T304M	COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.T229M|COQ6_ENST00000394026.4_Missense_Mutation_p.T279M|ENTPD5_ENST00000557325.1_Intron	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	304					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		GCTGACCACACGGACTTCATC	0.512													T	74427895	C	T	74427895	3	4	350	1	0	0	0	0	1	0	0	0	3780	536	19	1	945	1	COQ6	14	74427895	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		74427895	32921645	17	22883											
ACSM1	116285	broad.mit.edu	37	chr16	20696518	20696518	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcttgcatcactgacctgTtcgcatgcagcccacagcca	8	9	7	17	1	2	1	1	1	1	0	3	1	2	1	4	0	4	4	4	0	0	2			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr16:20696518T>A	ENST00000307493.4	-	2	467	c.400A>T	c.(400-402)Aca>Tca	p.T134S	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.T134S	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	134					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						CACTGACCTGTTCGCATGCAG	0.582													A	20696518	T	A	20696518	3	1	350	1	0	0	0	0	1	0	0	0	182	1725	60	5	1381	5	ACSM1	16	20696518	Missense_Mutation	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08		20696518	69658235	18	22884											
TP53	7157	broad.mit.edu	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggccagttggcaaaacatCttgttgagggcaggggagta	10	10	15	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	5	1	5	3	5			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	0.562		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)			G	7578534	C	G	7578534	3	3	350	1	0	0	0	0	1	0	0	0	16482	912	32	4	902	4	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		7578534	73616676	19	22885											
WIPF2	147179	broad.mit.edu	37	chr17	38420949	38420949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacgggcatgaagcacagctCctctgcccctcccccaccac	8	6	7	20	1	1	1	0	1	1	0	3	1	3	1	6	1	4	3	6	1	2	1			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr17:38420949C>G	ENST00000323571.4	+	5	761	c.521C>G	c.(520-522)tCc>tGc	p.S174C	WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000585043.1_Missense_Mutation_p.S174C|WIPF2_ENST00000583130.1_Missense_Mutation_p.S174C|WIPF2_ENST00000494757.1_3'UTR	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	174						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AAGCACAGCTCCTCTGCCCCT	0.642										HNSCC(43;0.11)			G	38420949	C	G	38420949	3	3	350	1	0	0	0	0	1	0	0	0	17470	855	30	4	535	4	WIPF2	17	38420949	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	30842415	38420949	42774261	20	22886											
ZNF208	7757	broad.mit.edu	37	chr19	22154888	22154888	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtaaggattgagaatgtaCtaaagcctttgccacattct	13	13	8	7	0	1	1	0	1	1	1	1	3	1	2	2	1	3	2	2	1	6	7			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:22154888C>G	ENST00000397126.4	-	4	3096	c.2948G>C	c.(2947-2949)aGt>aCt	p.S983T	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				TGAGAATGTACTAAAGCCTTT	0.358													G	22154888	C	G	22154888	3	3	350	1	0	0	0	0	1	0	0	0	17867	565	20	4	898	4	ZNF208	19	22154888	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08		22154888	36974095	21	22887											
LAIR2	3904	broad.mit.edu	37	chr19	55019288	55019288	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatctgagtcagaggccAgattccacattgactcagta	11	10	9	11	0	3	4	2	2	1	2	5	4	5	4	3	1	0	1	3	1	1	3			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:55019288A>C	ENST00000301202.2	+	3	375	c.253A>C	c.(253-255)Aga>Cga	p.R85R	LAIR2_ENST00000351841.2_Silent_p.R85R	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	85	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GTCAGAGGCCAGATTCCACAT	0.498													C	55019288	A	C	55019288	2	2	350	1	0	0	0	0	0	0	0	1	8662	180	7	5		5	LAIR2	19	55019288	Silent	SNP	A	TCGA-DH-A7UT-01A-12D-A34A-08	32864400	55019288	4109695	22	22888											
ZNF551	90233	broad.mit.edu	37	chr19	58199603	58199603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgggaaatcctttagcCgcaaatctaacctcattcga	13	11	7	10	2	2	0	1	0	1	0	4	2	3	1	3	1	2	1	3	1	5	4	rs139249482	by1000genomes	TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr19:58199603C>T	ENST00000282296.5	+	3	2145	c.1960C>T	c.(1960-1962)Cgc>Tgc	p.R654C	ZNF551_ENST00000356715.4_Missense_Mutation_p.R638C|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	654					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		ATCCTTTAGCCGCAAATCTAA	0.418													T	58199603	C	T	58199603	3	4	350	1	0	0	0	0	1	0	0	0	18084	652	23	1	1922	1	ZNF551	19	58199603	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	3180315	58199603	929380	23	22889											
PROKR2	128674	broad.mit.edu	37	chr20	5294667	5294667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctcccaggagagctgccGtaccacgtagtagtccatct	9	9	10	13	2	1	1	0	0	1	1	3	2	3	1	4	1	4	5	4	1	3	3	rs142008002		TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:5294667G>A	ENST00000546004.1	-	2	595	c.349C>T	c.(349-351)Cgg>Tgg	p.R117W	PROKR2_ENST00000217270.3_Missense_Mutation_p.R117W			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	117						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						GAGAGCTGCCGTACCACGTAG	0.597										HNSCC(71;0.22)			A	5294667	G	A	5294667	3	1	350	1	0	0	0	0	1	0	0	0	12639	1144	40	1	812	1	PROKR2	20	5294667	Missense_Mutation	SNP	G	TCGA-DH-A7UT-01A-12D-A34A-08		5294667	57730853	24	22890											
SLC32A1	140679	broad.mit.edu	37	chr20	37356207	37356207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcaagatcctcatcgCgtgcctgtacgaggagaatg	10	7	12	12	4	1	2	1	0	0	2	3	4	2	2	3	2	2	2	3	2	3	1			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr20:37356207C>G	ENST00000217420.1	+	2	766	c.503C>G	c.(502-504)gCg>gGg	p.A168G		NM_080552.2	NP_542119.1	Q9H598	VIAAT_HUMAN	solute carrier family 32 (GABA vesicular transporter), member 1	168					neurotransmitter secretion	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|integral to membrane|plasma membrane|synaptic vesicle membrane	vesicular hydrogen:amino acid antiporter activity			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|urinary_tract(1)	38		Myeloproliferative disorder(115;0.00878)			Glycine(DB00145)	ATCCTCATCGCGTGCCTGTAC	0.642													G	37356207	C	G	37356207	3	3	350	1	0	0	0	0	1	0	0	0	14659	768	27	4	509	4	SLC32A1	20	37356207	Missense_Mutation	SNP	C	TCGA-DH-A7UT-01A-12D-A34A-08	32061540	37356207	25669313	25	22891											
NCF4	4689	broad.mit.edu	37	chr22	37268425	37268425	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatttcaaagctggagaTgtgatcttcctcctcagtcg	9	13	9	10	1	3	3	2	2	1	1	6	4	5	3	2	1	1	1	2	1	2	2			TCGA-DH-A7UT-01A-12D-A34A-08	TCGA-DH-A7UT-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f9300e8-f1e0-46d6-bb2b-4233112d5787	58237222-ac10-45c2-b564-57672b993059	g.chr22:37268425T>A	ENST00000397147.4	+	7	769	c.585T>A	c.(583-585)gaT>gaA	p.D195E	NCF4_ENST00000248899.6_Missense_Mutation_p.D195E	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	195	SH3.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						AAGCTGGAGATGTGATCTTCC	0.478													A	37268425	T	A	37268425	3	1	350	1	0	0	0	0	1	0	0	0	10294	1461	51	5	611	5	NCF4	22	37268425	Missense_Mutation	SNP	T	TCGA-DH-A7UT-01A-12D-A34A-08		37268425	14036141	26	22892											
GBP4	115361	broad.mit.edu	37	chr1	89659075	89659075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccagggcaaagatccaCgagtcattcttagggttact	12	9	10	10	1	2	1	1	0	1	1	3	2	3	1	2	2	2	2	2	2	3	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:89659075C>T	ENST00000355754.6	-	4	481	c.384G>A	c.(382-384)tcG>tcA	p.S128S		NM_052941.4	NP_443173.2	Q96PP9	GBP4_HUMAN	guanylate binding protein 4	128						cytoplasm	GTP binding|GTPase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(19)|skin(1)|stomach(2)|urinary_tract(1)	33				all cancers(265;0.00723)|Epithelial(280;0.0291)		CAAAGATCCACGAGTCATTCT	0.433													T	89659075	C	T	89659075	2	4	351	1	0	0	0	0	0	0	0	1	6330	523	19	1		1	GBP4	1	89659075	Silent	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		89659075	159591546	1	22893											
KPRP	448834	broad.mit.edu	37	chr1	152732432	152732432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcctacgtgcagtgcgAagcgtcacaacctgttcaga	9	9	12	11	3	2	1	2	0	0	1	3	2	3	1	2	1	5	2	2	1	3	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:152732432A>G	ENST00000368773.1	+	2	426	c.368A>G	c.(367-369)gAa>gGa	p.E123G	KPRP_ENST00000606109.1_Missense_Mutation_p.E123G	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	123	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTGCAGTGCGAAGCGTCACAA	0.493													G	152732432	A	G	152732432	3	3	351	1	0	0	0	0	1	0	0	0	8494	246	9	3	370	3	KPRP	1	152732432	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	63073357	152732432	96518189	2	22894											
HMCN1	83872	broad.mit.edu	37	chr1	186057368	186057368	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatgccactgggatcccAcctcccacgatagcatggtt	8	10	10	13	1	0	1	0	1	0	0	2	3	2	2	4	2	2	2	4	2	1	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr1:186057368A>C	ENST00000271588.4	+	62	9766	c.9537A>C	c.(9535-9537)ccA>ccC	p.P3179P	HMCN1_ENST00000367492.2_Silent_p.P3179P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3179	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATCCCACCTCCCACGA	0.438													C	186057368	A	C	186057368	2	2	351	1	0	0	0	0	0	0	0	1	7275	146	6	5		5	HMCN1	1	186057368	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	33324936	186057368	63193253	3	22895											
CAD	790	broad.mit.edu	37	chr2	27446568	27446568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctctcttcaccaacgccaAtgatggttccaatgaaggca	11	10	7	13	1	2	2	1	2	1	0	5	2	4	2	4	2	1	2	4	2	4	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:27446568A>G	ENST00000264705.4	+	7	1109	c.947A>G	c.(946-948)aAt>aGt	p.N316S	CAD_ENST00000403525.1_Missense_Mutation_p.N316S	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	316	GATase (Glutamine amidotransferase).|Glutamine amidotransferase type-1.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACCAACGCCAATGATGGTTCC	0.537													G	27446568	A	G	27446568	3	3	351	1	0	0	0	0	1	0	0	0	2591	101	4	3	973	3	CAD	2	27446568	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08		27446568	215752805	4	22896											
GLI2	2736	broad.mit.edu	37	chr2	121747054	121747054	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtacccgggctacagtccGcaaggcctacaggctagccc	9	5	11	16	2	0	0	0	0	0	0	1	0	1	0	4	3	4	4	4	3	5	4	rs140392004		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:121747054G>T	ENST00000452319.1	+	14	3624	c.3564G>T	c.(3562-3564)ccG>ccT	p.P1188P	GLI2_ENST00000361492.4_Silent_p.P1188P|GLI2_ENST00000314490.11_Intron			P10070	GLI2_HUMAN	GLI family zinc finger 2	1188					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				GCTACAGTCCGCAAGGCCTAC	0.677													T	121747054	G	T	121747054	2	4	351	1	0	0	0	0	0	0	0	1	6494	1074	38	4		4	GLI2	2	121747054	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	94300486	121747054	121452319	5	22897											
B3GALT1	8708	broad.mit.edu	37	chr2	168725946	168725946	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaatcagatggtggagcaaGagagccaaatcttccatgat	14	9	10	8	0	3	3	2	1	1	2	4	5	4	4	2	2	2	1	2	2	3	1			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:168725946G>C	ENST00000392690.3	+	1	489	c.397G>C	c.(397-399)Gag>Cag	p.E133Q	AC016723.4_ENST00000436982.2_RNA|B3GALT1_ENST00000305861.1_Missense_Mutation_p.E133Q|AC016723.4_ENST00000430546.1_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GGTGGAGCAAGAGAGCCAAAT	0.473													C	168725946	G	C	168725946	3	2	351	1	0	0	0	0	1	0	0	0	1252	943	33	4	399	4	B3GALT1	2	168725946	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	46978892	168725946	74473427	6	22898											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	351	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	40387166	209113112	34086261	7	22899											
IMPG2	50939	broad.mit.edu	37	chr3	100961732	100961732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctggaaccccgtgagatttGactggagatagggaaccagc	11	8	13	9	1	1	3	0	2	1	2	1	7	1	5	3	3	3	0	3	3	3	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:100961732G>A	ENST00000193391.7	-	14	3009	c.2822C>T	c.(2821-2823)tCa>tTa	p.S941L		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	941	SEA 2.				visual perception	integral to membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|hyaluronic acid binding|receptor activity			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CGTGAGATTTGACTGGAGATA	0.393													A	100961732	G	A	100961732	3	1	351	1	0	0	0	0	1	0	0	0	7787	1294	45	2	927	2	IMPG2	3	100961732	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		100961732	97060698	8	22900											
CPB1	1360	broad.mit.edu	37	chr3	148545614	148545614	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacctggtcagacacaatgTtggcactcttggttctggtg	8	12	12	9	0	3	2	1	0	2	2	3	2	3	2	1	4	0	3	1	4	1	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr3:148545614T>A	ENST00000491148.1	+	2	338	c.4T>A	c.(4-6)Ttg>Atg	p.L2M	CPB1_ENST00000282957.4_Missense_Mutation_p.L2M			P15086	CBPB1_HUMAN	carboxypeptidase B1 (tissue)	2					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	38			LUSC - Lung squamous cell carcinoma(72;0.0934)|Lung(72;0.115)			AGACACAATGTTGGCACTCTT	0.458													A	148545614	T	A	148545614	3	1	351	1	0	0	0	0	1	0	0	0	3827	1722	60	5	6	5	CPB1	3	148545614	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	47583882	148545614	49476816	9	22901											
AFP	174	broad.mit.edu	37	chr4	74306410	74306410	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaaagtgaagagggaaGacataactgttttcttgcac	14	9	10	8	0	1	3	0	1	1	2	1	4	1	4	1	1	3	2	1	1	4	4			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74306410G>T	ENST00000395792.2	+	4	462	c.362G>T	c.(361-363)aGa>aTa	p.R121I	AFP_ENST00000226359.2_Missense_Mutation_p.R121I	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	121	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAGAGGGAAGACATAACTGT	0.438									Alpha-Fetoprotein, Hereditary Persistence of				T	74306410	G	T	74306410	3	4	351	1	0	0	0	0	1	0	0	0	363	942	33	4	376	4	AFP	4	74306410	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		74306410	116847866	10	22902											
AFP	174	broad.mit.edu	37	chr4	74313361	74313361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatagagattttaaccaattTtcttcaggggaaaaaaatat	17	13	7	4	0	2	1	1	0	1	1	2	4	2	2	1	2	1	0	1	2	7	7			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:74313361T>A	ENST00000395792.2	+	8	1126	c.1026T>A	c.(1024-1026)ttT>ttA	p.F342L	AFP_ENST00000226359.2_Missense_Mutation_p.F342L	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	342	Albumin 2.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTAACCAATTTTCTTCAGGGG	0.343									Alpha-Fetoprotein, Hereditary Persistence of				A	74313361	T	A	74313361	3	1	351	1	0	0	0	0	1	0	0	0	363	1838	64	5	1056	5	AFP	4	74313361	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	6951	74313361	116840915	11	22903											
FRAS1	80144	broad.mit.edu	37	chr4	79443927	79443927	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagacttttgattctccAcatcaactctggagagccac	10	11	7	13	0	4	3	2	1	2	2	5	4	4	3	2	1	2	1	2	1	1	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:79443927A>G	ENST00000264895.6	+	69	11213	c.10773A>G	c.(10771-10773)ccA>ccG	p.P3591P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3586					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TTGATTCTCCACATCAACTCT	0.443													G	79443927	A	G	79443927	2	3	351	1	0	0	0	0	0	0	0	1	6093	146	6	3		3	FRAS1	4	79443927	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	5130566	79443927	111710349	12	22904											
ABCE1	6059	broad.mit.edu	37	chr4	146032140	146032140	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttaacccacctaaaagaaCgaaatgttgaagatctttca	17	11	5	8	1	2	3	1	1	1	2	2	4	2	3	2	0	2	1	2	0	6	5			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:146032140C>T	ENST00000296577.4	+	8	1149	c.634C>T	c.(634-636)Cga>Tga	p.R212*	OTUD4_ENST00000455611.2_5'UTR|ABCE1_ENST00000502803.1_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	212	ABC transporter 1.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CCTAAAAGAACGAAATGTTGA	0.363													T	146032140	C	T	146032140	4	4	351	1	0	0	0	0	0	1	0	0	64	528	19	1	660	1	ABCE1	4	146032140	Nonsense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	66588213	146032140	45122136	13	22905											
FAT1	2195	broad.mit.edu	37	chr4	187630588	187630588	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaccctgacctttgttcGcgcctccacattagtatttt	6	15	6	14	2	0	1	0	1	0	0	2	1	1	1	4	0	1	3	4	0	2	6			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr4:187630588G>T	ENST00000441802.2	-	2	603	c.394C>A	c.(394-396)Cga>Aga	p.R132R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	132	Cadherin 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	p.R132*(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACCTTTGTTCGCGCCTCCACA	0.413										HNSCC(5;0.00058)			T	187630588	G	T	187630588	2	4	351	1	0	0	0	0	0	0	0	1	5738	1095	38	4		4	FAT1	4	187630588	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	41598448	187630588	3523688	14	22906											
RHOBTB3	22836	broad.mit.edu	37	chr5	95091155	95091155	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataactctgacttaaataaCttgctgttctgctgccagtg	10	15	7	9	0	2	1	0	1	2	0	2	1	2	1	1	0	5	3	1	0	5	6	rs141124421		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr5:95091155C>G	ENST00000379982.3	+	6	1246	c.738C>G	c.(736-738)aaC>aaG	p.N246K	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	246					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		ACTTAAATAACTTGCTGTTCT	0.378													G	95091155	C	G	95091155	3	3	351	1	0	0	0	0	1	0	0	0	13424	564	20	4	760	4	RHOBTB3	5	95091155	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		95091155	85824105	15	22907											
TXNDC5	81567	broad.mit.edu	37	chr6	7888998	7888998	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gagggcgtgacggtctccgtCgctccagtctctgtgcgctg	3	10	15	13	5	2	1	0	1	2	0	6	2	3	1	2	2	1	2	2	2	0	0	rs142347872		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:7888998C>G	ENST00000539054.1	-	7	686	c.687G>C	c.(685-687)gcG>gcC	p.A229A	TXNDC5_ENST00000379757.4_Silent_p.A301A|TXNDC5_ENST00000473453.1_Silent_p.A193A|BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					CGGTCTCCGTCGCTCCAGTCT	0.647													G	7888998	C	G	7888998	2	3	351	1	0	0	0	0	0	0	0	1	16901	871	31	4		4	TXNDC5	6	7888998	Silent	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		7888998	163226069	16	22908											
HIVEP1	3096	broad.mit.edu	37	chr6	12121547	12121547	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgatgagagacagcatGacctgggcgccatggagctg	10	6	14	11	1	0	4	0	3	0	1	0	6	0	5	3	2	2	2	3	2	0	0			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:12121547G>C	ENST00000379388.2	+	4	1851	c.1519G>C	c.(1519-1521)Gac>Cac	p.D507H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	507					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGACAGCATGACCTGGGCGC	0.493													C	12121547	G	C	12121547	3	2	351	1	0	0	0	0	1	0	0	0	7241	1290	45	4	1529	4	HIVEP1	6	12121547	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	4232549	12121547	158993520	17	22909											
PRL	5617	broad.mit.edu	37	chr6	22287738	22287738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggttataataagcagaaaGgcgagactcttcatcagcca	15	8	9	9	1	3	2	2	0	1	2	3	3	3	2	1	2	2	2	1	2	4	4			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:22287738G>T	ENST00000306482.1	-	5	1095	c.577C>A	c.(577-579)Ctt>Att	p.L193I	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	193					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					TAAGCAGAAAGGCGAGACTCT	0.443													T	22287738	G	T	22287738	3	4	351	1	0	0	0	0	1	0	0	0	12614	1000	35	4	110	4	PRL	6	22287738	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	10166191	22287738	148827329	18	22910											
CLIC5	53405	broad.mit.edu	37	chr6	45917025	45917025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctcctccaggaactcCtcgatcttattgacgtctgt	8	13	8	12	2	3	1	0	1	3	0	7	3	5	2	3	2	1	0	3	2	3	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr6:45917025C>A	ENST00000185206.6	-	3	896	c.744G>T	c.(742-744)gaG>gaT	p.E248D	CLIC5_ENST00000544153.1_Missense_Mutation_p.E89D|CLIC5_ENST00000339561.6_Missense_Mutation_p.E89D	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	248					female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						CCAGGAACTCCTCGATCTTAT	0.532													A	45917025	C	A	45917025	3	1	351	1	0	0	0	0	1	0	0	0	3560	680	24	4	504	4	CLIC5	6	45917025	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	23629287	45917025	125198042	19	22911											
CCDC132	55610	broad.mit.edu	37	chr7	92926525	92926526	+	Frame_Shift_Del	DEL	AA	AA	-																															acaggaatctattagaaaacAaagtgtcaattatttcaaga																										TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:92926525_92926526delAA	ENST00000544910.1	+	17	1461_1462	c.1241_1242delAA	c.(1240-1242)caafs	p.Q414fs	CCDC132_ENST00000305866.5_Frame_Shift_Del_p.Q444fs|CCDC132_ENST00000541136.1_Frame_Shift_Del_p.Q255fs|CCDC132_ENST00000535481.1_Frame_Shift_Del_p.Q164fs|CCDC132_ENST00000317751.6_Frame_Shift_Del_p.Q175fs	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	444										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			ATTAGAAAACAAAGTGTCAATT	0.292													-	92926526	AA	-	92926525	7	5	351	1	0	1	0	1	0	0	0	0	2793	130	5	0	1435	0	CCDC132	7	92926525	Frame_Shift_Del	DEL	AA	TCGA-DH-A7UU-01A-12D-A34A-08		92926525	66212138	20	22912											
TRIM56	81844	broad.mit.edu	37	chr7	100732732	100732732	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaggggtccctccttggAgacttcctgacagcctacca	8	8	10	15	1	0	2	0	1	0	1	3	4	3	2	6	3	2	0	6	3	2	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:100732732A>G	ENST00000306085.6	+	3	2436	c.2139A>G	c.(2137-2139)ggA>ggG	p.G713G		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	713					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					CCCTCCTTGGAGACTTCCTGA	0.582													G	100732732	A	G	100732732	2	3	351	1	0	0	0	0	0	0	0	1	16631	291	11	3		3	TRIM56	7	100732732	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	7806207	100732732	58405931	21	22913											
AKR1B10	57016	broad.mit.edu	37	chr7	134221422	134221422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggaggagctggtggaTgaggggctggtgaaagccct	8	7	19	7	0	0	2	0	2	0	0	0	5	0	5	2	7	2	2	2	7	1	0			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:134221422T>A	ENST00000359579.4	+	5	770	c.450T>A	c.(448-450)gaT>gaA	p.D150E	AKR1B10_ENST00000475559.1_Intron	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	150					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						AGCTGGTGGATGAGGGGCTGG	0.522													A	134221422	T	A	134221422	3	1	351	1	0	0	0	0	1	0	0	0	467	1461	51	5	468	5	AKR1B10	7	134221422	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	33488690	134221422	24917241	22	22914											
NOS3	4846	broad.mit.edu	37	chr7	150690908	150690908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatgggcaacttgaagaGcgtggcccaggagcctgggc	10	6	15	10	1	0	2	0	1	0	1	0	3	0	3	2	4	4	1	2	4	3	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr7:150690908G>C	ENST00000297494.3	+	2	374	c.17G>C	c.(16-18)aGc>aCc	p.S6T	NOS3_ENST00000484524.1_Missense_Mutation_p.S6T|NOS3_ENST00000467517.1_Missense_Mutation_p.S6T|NOS3_ENST00000461406.1_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	6					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AACTTGAAGAGCGTGGCCCAG	0.697													C	150690908	G	C	150690908	3	2	351	1	0	0	0	0	1	0	0	0	10620	971	34	4	19	4	NOS3	7	150690908	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	16469486	150690908	8447755	23	22915											
HMBOX1	79618	broad.mit.edu	37	chr8	28837639	28837639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagcctttcttgccaatcgGaggatttcccaagcagttgt	10	12	9	10	1	1	0	0	0	1	0	3	2	2	2	3	2	3	2	3	2	3	4			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:28837639G>A	ENST00000397358.3	+	5	1256	c.552G>A	c.(550-552)cgG>cgA	p.R184R	HMBOX1_ENST00000403668.2_Silent_p.R184R|HMBOX1_ENST00000444075.1_Silent_p.R184R|HMBOX1_ENST00000558662.1_Silent_p.R184R|HMBOX1_ENST00000355231.5_Silent_p.R184R|HMBOX1_ENST00000519047.1_Silent_p.R184R|HMBOX1_ENST00000287701.10_Silent_p.R184R|HMBOX1_ENST00000524238.1_Silent_p.R184R|HMBOX1_ENST00000523613.1_Silent_p.R184R	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	184					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TTGCCAATCGGAGGATTTCCC	0.433													A	28837639	G	A	28837639	2	1	351	1	0	0	0	0	0	0	0	1	7273	1161	41	2		2	HMBOX1	8	28837639	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		28837639	117526383	24	22916											
KCNU1	157855	broad.mit.edu	37	chr8	36671774	36671774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtagaaattcacagaataTatcatattttgagtcaattt	16	15	6	4	0	3	3	3	1	0	2	3	3	3	3	0	1	0	1	0	1	7	8			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:36671774T>C	ENST00000399881.3	+	8	819	c.782T>C	c.(781-783)aTa>aCa	p.I261T		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	261						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCACAGAATATATCATATTTT	0.423													C	36671774	T	C	36671774	3	2	351	1	0	0	0	0	1	0	0	0	8151	1406	49	3	812	3	KCNU1	8	36671774	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	7834135	36671774	109692248	25	22917											
AGPAT6	137964	broad.mit.edu	37	chr8	41456786	41456786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtctcctttggtatccGcaaactctacatgaaaagtc	11	12	8	10	1	2	1	0	1	2	0	5	2	3	2	2	2	2	2	2	2	5	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:41456786G>A	ENST00000396987.3	+	2	1055	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_178819.3	NP_848934.1	Q86UL3	GPAT4_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 6	43					acyl-CoA metabolic process|lactation|phosphatidylcholine biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	glycerol-3-phosphate O-acyltransferase activity	p.R43H(2)		endometrium(3)|kidney(2)|large_intestine(3)|lung(6)	14	Ovarian(28;0.00769)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.0131)|Lung NSC(58;0.0363)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	OV - Ovarian serous cystadenocarcinoma(14;0.00126)|Colorectal(10;0.0014)|Lung(22;0.00177)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0147)			TTTGGTATCCGCAAACTCTAC	0.433													A	41456786	G	A	41456786	3	1	351	1	0	0	0	0	1	0	0	0	391	1087	38	1	130	1	AGPAT6	8	41456786	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	4785012	41456786	104907236	26	22918											
TRPA1	8989	broad.mit.edu	37	chr8	72948521	72948521	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaataattcaagcttgttttAcctttgaagatacaataaga	17	14	5	5	0	1	3	1	1	0	2	1	3	1	3	1	0	3	2	1	0	8	8	rs111533281		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:72948521A>G	ENST00000262209.4	-	21	2763		c.e21+1		RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_Splice_Site|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1							integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AGCTTGTTTTACCTTTGAAGA	0.333													G	72948521	A	G	72948521	5	3	351	1	0	0	0	0	0	0	1	0	16678	405	14	3	830	3	TRPA1	8	72948521	Splice_Site	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	31491735	72948521	73415501	27	22919											
ADCY8	114	broad.mit.edu	37	chr8	131812796	131812796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatcaccccaacagcaTcataggattgagaatacagc	17	6	6	12	0	2	1	2	1	0	1	2	3	2	2	2	1	5	1	2	1	5	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr8:131812796T>C	ENST00000286355.5	-	15	5028	c.2936A>G	c.(2935-2937)gAt>gGt	p.D979G	ADCY8_ENST00000377928.3_Missense_Mutation_p.D848G	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	979					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			CCCAACAGCATCATAGGATTG	0.498										HNSCC(32;0.087)			C	131812796	T	C	131812796	3	2	351	1	0	0	0	0	1	0	0	0	300	1435	50	3	835	3	ADCY8	8	131812796	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	58864275	131812796	14551226	28	22920											
TMEM2	23670	broad.mit.edu	37	chr9	74347285	74347285	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accataatgtgtcccccaaaGgtatcataatcaaaaaattg	17	10	5	9	0	2	0	2	0	0	0	3	0	3	0	3	1	0	1	3	1	7	4			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:74347285G>T	ENST00000377044.4	-	7	2084	c.1545C>A	c.(1543-1545)acC>acA	p.T515T	TMEM2_ENST00000377066.5_Silent_p.T452T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	515						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GTCCCCCAAAGGTATCATAAT	0.383													T	74347285	G	T	74347285	2	4	351	1	0	0	0	0	0	0	0	1	16221	987	35	4		4	TMEM2	9	74347285	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		74347285	66866146	29	22921											
PCSK5	5125	broad.mit.edu	37	chr9	78943022	78943022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggagctgcatggccaaCgagaagtgctcaccctccga	9	6	13	13	3	1	1	1	0	0	1	2	4	2	2	3	2	4	3	3	2	2	0			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:78943022C>T	ENST00000545128.1	+	32	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592													T	78943022	C	T	78943022	2	4	351	1	0	0	0	0	0	0	0	1	11679	551	19	1		1	PCSK5	9	78943022	Silent	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	4595737	78943022	62270409	30	22922											
ROR2	4920	broad.mit.edu	37	chr9	94493426	94493426	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccatgcctgagccgttatAgcactgatggtctgaacaag	11	10	10	10	1	1	3	0	3	1	0	2	3	2	3	3	1	4	2	3	1	4	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr9:94493426A>T	ENST00000375708.3	-	7	1147	c.949T>A	c.(949-951)Tat>Aat	p.Y317N	ROR2_ENST00000375715.1_Missense_Mutation_p.Y177N|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	317	Kringle.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GAGCCGTTATAGCACTGATGG	0.532													T	94493426	A	T	94493426	3	4	351	1	0	0	0	0	1	0	0	0	13618	420	15	5	1894	5	ROR2	9	94493426	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	15550404	94493426	46720005	31	22923											
PLXDC2	84898	broad.mit.edu	37	chr10	20453451	20453451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatccagtgaaagtcggaCtgtccgatgcatttgtcgtt	9	13	10	9	3	1	1	1	1	0	0	5	3	3	2	2	1	1	2	2	1	1	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:20453451C>A	ENST00000377252.4	+	7	1679	c.838C>A	c.(838-840)Ctg>Atg	p.L280M	PLXDC2_ENST00000377238.2_3'UTR|PLXDC2_ENST00000377242.3_Missense_Mutation_p.L231M	NM_001282736.1|NM_032812.7	NP_001269665.1|NP_116201.7	Q6UX71	PXDC2_HUMAN	plexin domain containing 2							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(9)|ovary(2)|skin(3)|stomach(1)	34						GAAAGTCGGACTGTCCGATGC	0.423													A	20453451	C	A	20453451	3	1	351	1	0	0	0	0	1	0	0	0	12195	564	20	4	864	4	PLXDC2	10	20453451	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		20453451	115081296	32	22924											
YME1L1	10730	broad.mit.edu	37	chr10	27400913	27400913	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagagagttatcatctcActtccaactttttcccctca	11	14	3	13	0	4	1	4	0	1	1	7	2	6	1	3	0	1	1	3	0	3	4			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:27400913A>C	ENST00000326799.3	-	20	2463	c.2315T>G	c.(2314-2316)gTg>gGg	p.V772G	YME1L1_ENST00000375972.3_Missense_Mutation_p.V682G|YME1L1_ENST00000376016.3_Missense_Mutation_p.V715G	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	772					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TTATCATCTCACTTCCAACTT	0.388													C	27400913	A	C	27400913	3	2	351	1	0	0	0	0	1	0	0	0	17589	159	6	5	10	5	YME1L1	10	27400913	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	6947462	27400913	108133834	33	22925											
OGDHL	55753	broad.mit.edu	37	chr10	50944446	50944446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcctccaggtcctggCtgctccgctccttcaccagg	3	12	8	18	1	2	0	1	0	1	0	7	0	6	0	6	3	1	3	6	3	0	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:50944446C>A	ENST00000374103.4	-	21	2796	c.2711G>T	c.(2710-2712)aGc>aTc	p.S904I	OGDHL_ENST00000419399.1_Missense_Mutation_p.S847I|OGDHL_ENST00000490844.1_5'UTR|OGDHL_ENST00000432695.1_Missense_Mutation_p.S695I	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	904					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CAGGTCCTGGCTGCTCCGCTC	0.622													A	50944446	C	A	50944446	3	1	351	1	0	0	0	0	1	0	0	0	10916	797	28	4	333	4	OGDHL	10	50944446	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	23543533	50944446	84590301	34	22926											
PTEN	5728	broad.mit.edu	37	chr10	89711890	89711890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggagtaactattcccAgtcagaggcgctatgtgtat	11	10	11	9	1	1	1	1	0	0	1	2	2	2	2	2	2	1	3	2	2	4	5			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr10:89711890A>G	ENST00000371953.3	+	6	1865	c.508A>G	c.(508-510)Agt>Ggt	p.S170G		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	170	Phosphatase tensin-type.		S -> N (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).|S -> R (in BZS; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(4)|p.V166fs*17(3)|p.G165fs*9(3)|p.Y27fs*1(2)|p.V166fs*10(1)|p.G165_*404del(1)|p.S170fs*13(1)|p.S170G(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACTATTCCCAGTCAGAGGCG	0.353		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89711890	A	G	89711890	3	3	351	1	0	0	0	0	1	0	0	0	12823	188	7	3	530	3	PTEN	10	89711890	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	38767444	89711890	45822857	35	22927											
OR51T1	401665	broad.mit.edu	37	chr11	4903910	4903910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccactgatcagcctcTctttggcacaccgcctcttc	6	12	7	16	1	3	1	1	1	2	0	5	1	3	1	4	1	2	1	4	1	0	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:4903910T>C	ENST00000380378.1	+	1	862	c.862T>C	c.(862-864)Tct>Cct	p.S288P	OR51T1_ENST00000322049.1_Missense_Mutation_p.S261P|MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GATCAGCCTCTCTTTGGCACA	0.488													C	4903910	T	C	4903910	3	2	351	1	0	0	0	0	1	0	0	0	11182	1551	54	3	864	3	OR51T1	11	4903910	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08		4903910	130102606	36	22928											
NUP160	23279	broad.mit.edu	37	chr11	47825055	47825055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacaggaaccaacattgaCttgacaccagggatgtagca	14	7	10	10	1	0	2	0	2	0	0	1	5	0	4	2	2	3	2	2	2	3	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:47825055C>G	ENST00000378460.2	-	22	2756	c.2710G>C	c.(2710-2712)Gtc>Ctc	p.V904L	NUP160_ENST00000530326.1_Missense_Mutation_p.V790L|NUP160_ENST00000528071.1_Missense_Mutation_p.V790L	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	904					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CCAACATTGACTTGACACCAG	0.358													G	47825055	C	G	47825055	3	3	351	1	0	0	0	0	1	0	0	0	10833	565	20	4	1660	4	NUP160	11	47825055	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	42921145	47825055	87181461	37	22929											
OR8K5	219453	broad.mit.edu	37	chr11	55927617	55927617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtctgatagaaaagtaCataggtgtatgtaagtggga	16	11	12	2	0	1	2	0	1	1	1	1	3	1	3	0	2	1	3	0	2	8	5			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr11:55927617C>T	ENST00000313447.1	-	1	176	c.177G>A	c.(175-177)atG>atA	p.M59I		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	59					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				TAGAAAAGTACATAGGTGTAT	0.398													T	55927617	C	T	55927617	3	4	351	1	0	0	0	0	1	0	0	0	11321	478	17	2	749	2	OR8K5	11	55927617	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	8102562	55927617	79078899	38	22930											
OVCH1	341350	broad.mit.edu	37	chr12	29639273	29639273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgagaggggttggccccGatccaaacctgtaaaaggta	11	10	12	8	1	0	1	0	1	0	1	1	3	1	1	4	4	1	3	4	4	4	5			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:29639273G>A	ENST00000318184.5	-	8	900	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	301	CUB 1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GGTTGGCCCCGATCCAAACCT	0.388													A	29639273	G	A	29639273	3	1	351	1	0	0	0	0	1	0	0	0	11399	1057	37	1	2587	1	OVCH1	12	29639273	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		29639273	104212622	39	22931											
INHBE	83729	broad.mit.edu	37	chr12	57850626	57850626	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggaggcctgtggctgcAgctagcaagaggacctgggg	7	7	19	8	0	0	1	0	0	0	1	0	3	0	3	2	7	3	4	2	7	2	1			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:57850626A>T	ENST00000266646.2	+	2	1264	c.1048A>T	c.(1048-1050)Agc>Tgc	p.S350C	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	350					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						CTGTGGCTGCAGCTAGCAAGA	0.557											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	57850626	A	T	57850626	3	4	351	1	0	0	0	0	1	0	0	0	7802	188	7	5	1054	5	INHBE	12	57850626	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	28211353	57850626	76001269	40	22932											
MON2	23041	broad.mit.edu	37	chr12	62918870	62918870	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattattttacaggtcattTtgtcagtcctatgatatgaa	13	17	6	5	0	2	2	2	2	0	0	3	2	3	2	1	1	1	0	1	1	6	7			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr12:62918870T>G	ENST00000393630.3	+	10	1507	c.1116T>G	c.(1114-1116)ttT>ttG	p.F372L	MON2_ENST00000546600.1_Missense_Mutation_p.F372L|MON2_ENST00000280379.6_Missense_Mutation_p.F372L|MON2_ENST00000393632.2_Missense_Mutation_p.F372L|MON2_ENST00000552738.1_Missense_Mutation_p.F372L|MON2_ENST00000393629.2_Missense_Mutation_p.F372L|MON2_ENST00000552115.1_Missense_Mutation_p.F372L	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	372					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		ACAGGTCATTTTGTCAGTCCT	0.303													G	62918870	T	G	62918870	3	3	351	1	0	0	0	0	1	0	0	0	9776	1838	64	5	1154	5	MON2	12	62918870	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	5068244	62918870	70933025	41	22933											
ATP12A	479	broad.mit.edu	37	chr13	25264609	25264609	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcttctcaggggtgtcGggtaagcggcaaggggtatc	6	10	17	8	2	2	0	1	0	2	0	5	0	2	0	0	6	1	4	0	6	3	3	rs12866274		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr13:25264609G>C	ENST00000218548.6	+	6	1013	c.680G>C	c.(679-681)cGg>cCg	p.R227P	ATP12A_ENST00000381946.3_Splice_Site_p.R227P	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	227				Missing (in Ref. 7; CAA49477).	ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CAGGGGTGTCGGGTAAGCGGC	0.572													C	25264609	G	C	25264609	5	2	351	1	0	0	0	0	0	0	1	0	1127	1130	39	4	702	4	ATP12A	13	25264609	Splice_Site	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		25264609	89905269	42	22934											
MLH3	27030	broad.mit.edu	37	chr14	75516298	75516298	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacacattggcccaaggAgcttatggccaaaccagaac	14	6	8	13	0	1	1	1	0	0	1	1	2	1	2	3	3	4	1	3	3	5	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr14:75516298A>C	ENST00000355774.2	-	2	276	c.61T>G	c.(61-63)Tcc>Gcc	p.S21A	MLH3_ENST00000238662.7_Missense_Mutation_p.S21A|MLH3_ENST00000556740.1_Missense_Mutation_p.S21A|MLH3_ENST00000556257.1_Missense_Mutation_p.S21A|MLH3_ENST00000380968.2_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	21					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		TGGCCCAAGGAGCTTATGGCC	0.458								Mismatch excision repair (MMR)					C	75516298	A	C	75516298	3	2	351	1	0	0	0	0	1	0	0	0	9693	304	11	5	4348	5	MLH3	14	75516298	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08		75516298	31833242	43	22935											
PLCB2	5330	broad.mit.edu	37	chr15	40587217	40587217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagttggaggagtccatgCgggttcccttggggtaaatg	7	12	16	6	1	0	0	0	0	0	0	2	2	2	2	2	5	1	4	2	5	3	5			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:40587217C>T	ENST00000260402.3	-	18	2075	c.1826G>A	c.(1825-1827)cGc>cAc	p.R609H	PLCB2_ENST00000557821.1_Missense_Mutation_p.R605H|PLCB2_ENST00000456256.2_Missense_Mutation_p.R609H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	609	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGAGTCCATGCGGGTTCCCTT	0.567													T	40587217	C	T	40587217	3	4	351	1	0	0	0	0	1	0	0	0	12105	768	27	1	1791	1	PLCB2	15	40587217	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		40587217	61944175	44	22936											
ALDH1A3	220	broad.mit.edu	37	chr15	101432734	101432734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccctggagacgatggataCagggaagccatttcttcatg	10	9	13	9	1	2	1	1	0	1	1	2	5	2	3	2	4	2	0	2	4	2	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr15:101432734C>A	ENST00000329841.5	+	4	897	c.365C>A	c.(364-366)aCa>aAa	p.T122K	ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	122					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ACGATGGATACAGGGAAGCCA	0.468													A	101432734	C	A	101432734	3	1	351	1	0	0	0	0	1	0	0	0	492	478	17	4	379	4	ALDH1A3	15	101432734	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08	60845517	101432734	1098658	45	22937											
ZP2	7783	broad.mit.edu	37	chr16	21212761	21212761	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcccagcagtcatctaaGaccagcttgatgttggggtc	8	10	12	11	1	2	2	1	1	1	1	4	2	2	2	2	2	2	3	2	2	1	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:21212761G>T	ENST00000574002.1	-	15	2105	c.1623C>A	c.(1621-1623)gtC>gtA	p.V541V	ZP2_ENST00000574091.1_Silent_p.V532V|ZP2_ENST00000219593.4_Silent_p.V541V|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	541	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGTCATCTAAGACCAGCTTGA	0.512													T	21212761	G	T	21212761	2	4	351	1	0	0	0	0	0	0	0	1	18315	929	33	4		4	ZP2	16	21212761	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		21212761	69141992	46	22938											
RBL2	5934	broad.mit.edu	37	chr16	53495680	53495680	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagagatccaacccaggcTattgctaacagactgaaaga	15	7	8	11	0	0	4	0	1	0	3	2	5	2	4	3	1	3	2	3	1	4	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:53495680T>C	ENST00000262133.6	+	10	1511	c.1374T>C	c.(1372-1374)gcT>gcC	p.A458A	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Silent_p.A242A	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	458	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CAACCCAGGCTATTGCTAACA	0.343													C	53495680	T	C	53495680	2	2	351	1	0	0	0	0	0	0	0	1	13198	1509	53	3		3	RBL2	16	53495680	Silent	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08	32282919	53495680	36859073	47	22939											
SLC6A2	6530	broad.mit.edu	37	chr16	55719086	55719086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccttcacgagagcagcGggattcatgacatcggcctg	9	8	12	12	3	2	2	2	1	0	1	3	4	2	3	2	2	3	2	2	2	0	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:55719086G>A	ENST00000379906.2	+	4	931	c.676G>A	c.(676-678)Ggg>Agg	p.G226R	SLC6A2_ENST00000219833.8_Missense_Mutation_p.G226R|SLC6A2_ENST00000414754.3_Missense_Mutation_p.G226R|SLC6A2_ENST00000561820.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000568943.1_Missense_Mutation_p.G226R|SLC6A2_ENST00000567238.1_Missense_Mutation_p.G121R|SLC6A2_ENST00000566163.1_Missense_Mutation_p.G226R	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	226					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CGAGAGCAGCGGGATTCATGA	0.587													A	55719086	G	A	55719086	3	1	351	1	0	0	0	0	1	0	0	0	14777	1116	39	1	781	1	SLC6A2	16	55719086	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	2223406	55719086	34635667	48	22940											
KIFC3	3801	broad.mit.edu	37	chr16	57803769	57803769	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccacctgggctctggcaaaGgcctcctcaatggcccggtt	6	9	11	15	1	2	0	1	0	1	0	4	0	4	0	5	5	0	3	5	5	2	1			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:57803769G>T	ENST00000379655.4	-	8	1295	c.1038C>A	c.(1036-1038)gcC>gcA	p.A346A	KIFC3_ENST00000421376.2_Silent_p.A207A|KIFC3_ENST00000540079.2_Silent_p.A244A|KIFC3_ENST00000539578.1_Silent_p.A288A|KIFC3_ENST00000543930.1_Silent_p.A207A|KIFC3_ENST00000465878.2_Silent_p.A207A|KIFC3_ENST00000445690.2_Silent_p.A346A|KIFC3_ENST00000541240.1_Silent_p.A368A|KIFC3_ENST00000562903.1_Silent_p.A207A	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	346					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				CTCTGGCAAAGGCCTCCTCAA	0.627													T	57803769	G	T	57803769	2	4	351	1	0	0	0	0	0	0	0	1	8372	987	35	4		4	KIFC3	16	57803769	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	2084683	57803769	32550984	49	22941											
ACSF3	197322	broad.mit.edu	37	chr16	89167609	89167609	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgctcacaccagccAtctacactggagcagtagag	10	7	10	14	1	2	1	1	0	1	1	2	2	2	2	3	1	5	4	3	1	2	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr16:89167609A>G	ENST00000317447.4	+	3	897	c.520A>G	c.(520-522)Atc>Gtc	p.I174V	ACSF3_ENST00000406948.3_Missense_Mutation_p.I174V|ACSF3_ENST00000378345.4_Intron	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	174					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		CACACCAGCCATCTACACTGG	0.642													G	89167609	A	G	89167609	3	3	351	1	0	0	0	0	1	0	0	0	176	217	8	3	522	3	ACSF3	16	89167609	Missense_Mutation	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	31363840	89167609	1187144	50	22942											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577120	C	A	7577120	3	1	351	1	0	0	0	0	1	0	0	0	16482	536	19	4	468	4	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DH-A7UU-01A-12D-A34A-08		7577120	73618090	51	22943											
B4GALNT2	124872	broad.mit.edu	37	chr17	47233957	47233957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggacccgatgcccccGtctatgaggtgagtccttct	7	11	11	12	2	2	3	0	3	2	0	3	5	3	4	4	2	1	0	4	2	2	3	rs149941656		TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr17:47233957G>A	ENST00000300404.2	+	5	729	c.670G>A	c.(670-672)Gtc>Atc	p.V224I	B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V138I|B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V164I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	224					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.V224I(2)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CGATGCCCCCGTCTATGAGGT	0.572													A	47233957	G	A	47233957	3	1	351	1	0	0	0	0	1	0	0	0	1272	1145	40	1	706	1	B4GALNT2	17	47233957	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	39656837	47233957	33961253	52	22944											
FAM83D	81610	broad.mit.edu	37	chr20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-																															agaggccgggagaggagggcGcggcggcggcggcggcggcc																										TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719													-	37555325	GCG	-	37555323	7	5	351	1	0	1	0	1	0	0	0	0	5686	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-DH-A7UU-01A-12D-A34A-08		37555323	25470197	53	22945											
MOCS3	27304	broad.mit.edu	37	chr20	49575490	49575490	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcttttggctgagcaggaAccgcagccagaacggctggt	8	8	14	11	2	1	2	0	1	1	1	1	3	1	3	2	4	4	5	2	4	2	2			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr20:49575490A>G	ENST00000244051.1	+	1	128	c.111A>G	c.(109-111)gaA>gaG	p.E37E		NM_014484.3	NP_055299.1	O95396	MOCS3_HUMAN	molybdenum cofactor synthesis 3	37					enzyme active site formation via L-cysteine persulfide|Mo-molybdopterin cofactor biosynthetic process|tRNA thio-modification|tRNA wobble uridine modification|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|nucleotidyltransferase activity|protein binding|thiosulfate sulfurtransferase activity|URM1 activating enzyme activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	24						CTGAGCAGGAACCGCAGCCAG	0.612													G	49575490	A	G	49575490	2	3	351	1	0	0	0	0	0	0	0	1	9768	40	2	3		3	MOCS3	20	49575490	Silent	SNP	A	TCGA-DH-A7UU-01A-12D-A34A-08	12020167	49575490	13450030	54	22946											
MYO18B	84700	broad.mit.edu	37	chr22	26222385	26222385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcccagggctcaagaTgacaggagtggactgtgtgg	8	10	14	9	0	2	2	1	1	1	1	3	4	3	4	1	4	0	1	1	4	1	1			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chr22:26222385T>C	ENST00000335473.7	+	14	2955	c.2705T>C	c.(2704-2706)aTg>aCg	p.M902T	MYO18B_ENST00000536101.1_Missense_Mutation_p.M902T|MYO18B_ENST00000407587.2_Missense_Mutation_p.M902T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	902	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGGCTCAAGATGACAGGAGTG	0.542													C	26222385	T	C	26222385	3	2	351	1	0	0	0	0	1	0	0	0	10142	1464	51	3	2755	3	MYO18B	22	26222385	Missense_Mutation	SNP	T	TCGA-DH-A7UU-01A-12D-A34A-08		26222385	25082181	55	22947											
ZNF81	347344	broad.mit.edu	37	chrX	47774902	47774902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagatcttcacccagaGgtcacatttctttgctcctc	8	13	8	12	0	4	2	2	0	2	2	6	3	5	3	2	2	1	1	2	2	1	3			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:47774902G>A	ENST00000376954.1	+	6	1225	c.857G>A	c.(856-858)aGg>aAg	p.R286K	ZNF81_ENST00000338637.7_Missense_Mutation_p.R286K			P51508	ZNF81_HUMAN	zinc finger protein 81	286						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				TTCACCCAGAGGTCACATTTC	0.383													A	47774902	G	A	47774902	3	1	351	1	0	0	0	0	1	0	0	0	18273	1000	35	2	871	2	ZNF81	23	47774902	Missense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08		47774902	107495658	56	22948											
ACSL4	2182	broad.mit.edu	37	chrX	108887278	108887278	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatttgcccccatacattcGttcaatgtctttgaggtaat	9	17	6	9	1	2	1	1	1	1	0	3	1	2	1	2	1	2	2	2	1	4	7			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:108887278G>A	ENST00000340800.2	-	17	2620	c.2116C>T	c.(2116-2118)Cga>Tga	p.R706*	ACSL4_ENST00000469796.2_Nonsense_Mutation_p.R706*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.R665*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	706					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCATACATTCGTTCAATGTCT	0.423													A	108887278	G	A	108887278	4	1	351	1	0	0	0	0	0	1	0	0	179	1153	40	1	23	1	ACSL4	23	108887278	Nonsense_Mutation	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	61112376	108887278	46383282	57	22949											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-DH-A7UU-01A-12D-A34A-08	TCGA-DH-A7UU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	34f4d3f4-cda0-48b2-9604-6211eb0c9b98	0fd6f503-a571-4c65-813c-7e2908dd7b21	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	351	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-DH-A7UU-01A-12D-A34A-08	41269082	150156360	5114200	58	22950											
KANK4	163782	broad.mit.edu	37	chr1	62739953	62739953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagccaggggtgaacaacaCctctgcttctctggcattgt	8	10	12	11	0	2	1	0	1	2	0	3	2	2	2	2	4	4	2	2	4	2	2			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:62739953C>T	ENST00000371153.4	-	3	1201	c.823G>A	c.(823-825)Gtg>Atg	p.V275M	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	275	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GTGAACAACACCTCTGCTTCT	0.537													T	62739953	C	T	62739953	3	4	352	1	0	0	0	0	1	0	0	0	8037	507	18	2	2196	2	KANK4	1	62739953	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		62739953	186510668	1	22951											
NOTCH2	4853	broad.mit.edu	37	chr1	120491682	120491683	+	Frame_Shift_Del	DEL	TT	TT	-																															ctctcaaaatttggtgactcTttgcaaacagcagcattctc																										TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:120491682_120491683delTT	ENST00000256646.2	-	16	2765_2766	c.2546_2547delAA	c.(2545-2547)aaafs	p.K849fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	849	EGF-like 22.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTGGTGACTCTTTGCAAACAGC	0.426			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	120491683	TT	-	120491682	7	5	352	1	0	1	0	1	0	0	0	0	10624	1606	56	0	4944	0	NOTCH2	1	120491682	Frame_Shift_Del	DEL	TT	TCGA-DH-A7UV-01A-12D-A34A-08	57751729	120491682	128758939	2	22952											
CGN	57530	broad.mit.edu	37	chr1	151499471	151499473	+	In_Frame_Del	DEL	AGA	AGA	-																															actcctgcagctgcgaatggAgaaggaggagatggaagagg																										TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:151499471_151499473delAGA	ENST00000271636.7	+	10	1917_1919	c.1784_1786delAGA	c.(1783-1788)gagaag>gag	p.K596del		NM_020770.2	NP_065821.1	Q9P2M7	CING_HUMAN	cingulin	590	Glu-rich.					myosin complex|tight junction	actin binding|motor activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	Ovarian(49;0.0273)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGCGAATGGAGAAGGAGGAGAT	0.527													-	151499473	AGA	-	151499471	7	5	352	1	0	1	0	1	0	0	0	0	3333	304	11	0	1818	0	CGN	1	151499471	In_Frame_Del	DEL	AGA	TCGA-DH-A7UV-01A-12D-A34A-08	31007789	151499471	97751150	3	22953											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198509705	198509705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagacttactcttctTggcttcctctagcttgtcct	5	16	8	12	0	3	1	0	1	3	1	5	2	5	1	2	2	2	2	2	2	2	6			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr1:198509705T>C	ENST00000309309.7	-	2	181	c.76A>G	c.(76-78)Aag>Gag	p.K26E	ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000367381.1_Missense_Mutation_p.K26E|ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.K26E	NM_133326.1	NP_579872.1	Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	26					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						TTACTCTTCTTGGCTTCCTCT	0.493													C	198509705	T	C	198509705	3	2	352	1	0	0	0	0	1	0	0	0	1193	1821	63	3	342	3	ATP6V1G3	1	198509705	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	47010234	198509705	50740916	4	22954											
SCN9A	6335	broad.mit.edu	37	chr2	167162338	167162338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaatccagccagttccacGggtcacgaagaaaagtgaat	16	6	9	10	2	1	2	1	1	0	1	3	3	3	2	3	1	1	1	3	1	6	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr2:167162338G>A	ENST00000303354.6	-	5	903	c.563C>T	c.(562-564)cCg>cTg	p.P188L	SCN9A_ENST00000375387.4_Missense_Mutation_p.P188L|SCN9A_ENST00000409672.1_Missense_Mutation_p.P187L|SCN9A_ENST00000409435.1_Missense_Mutation_p.P187L			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	187						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGTTCCACGGGTCACGAAG	0.383													A	167162338	G	A	167162338	3	1	352	1	0	0	0	0	1	0	0	0	14018	1116	39	1	5465	1	SCN9A	2	167162338	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		167162338	76037035	5	22955											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	352	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	41950775	209113113	34086260	6	22956											
CNTN4	152330	broad.mit.edu	37	chr3	3078916	3078916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaccgtggtgggtttgaacCcttgggttgaatatgaattc	8	13	13	7	2	0	3	0	3	0	0	1	4	0	3	2	3	1	2	2	3	4	5			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:3078916C>A	ENST00000397461.1	+	17	2380	c.1996C>A	c.(1996-1998)Cct>Act	p.P666T	CNTN4_ENST00000448906.2_Missense_Mutation_p.P338T|CNTN4_ENST00000397459.2_Missense_Mutation_p.P338T|CNTN4_ENST00000358480.3_Missense_Mutation_p.P447T|CNTN4_ENST00000418658.1_Missense_Mutation_p.P666T|CNTN4_ENST00000427331.1_Missense_Mutation_p.P666T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	666	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGGTTTGAACCCTTGGGTTGA	0.507													A	3078916	C	A	3078916	3	1	352	1	0	0	0	0	1	0	0	0	3674	623	22	4	2054	4	CNTN4	3	3078916	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		3078916	194943514	7	22957											
ZDHHC3	51304	broad.mit.edu	37	chr3	44974664	44974664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcccaccatgatgagggCgtgcaaggaaatgagagcta	14	6	13	8	1	0	3	0	3	0	1	1	6	1	4	2	2	2	2	2	2	4	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:44974664C>T	ENST00000296127.3	-	5	829	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	ZDHHC3_ENST00000342790.4_Missense_Mutation_p.A220T|ZDHHC3_ENST00000424952.2_Missense_Mutation_p.A186T	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	186						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		ATGATGAGGGCGTGCAAGGAA	0.527													T	44974664	C	T	44974664	3	4	352	1	0	0	0	0	1	0	0	0	17717	768	27	1	696	1	ZDHHC3	3	44974664	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	41895748	44974664	153047766	8	22958											
SLC33A1	9197	broad.mit.edu	37	chr3	155546108	155546108	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caatgaaaacacaaataatgGactccacataataaccatcc	20	7	3	11	0	0	1	0	1	0	0	2	2	2	2	3	1	2	0	3	1	7	3			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:155546108G>C	ENST00000392845.3	-	6	1921	c.1541C>G	c.(1540-1542)tCc>tGc	p.S514C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.S514C			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			ACAAATAATGGACTCCACATA	0.348													C	155546108	G	C	155546108	3	2	352	1	0	0	0	0	1	0	0	0	14660	1174	41	4	112	4	SLC33A1	3	155546108	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	110571444	155546108	42476322	9	22959											
CLDN16	10686	broad.mit.edu	37	chr3	190126225	190126225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggttggtcctgttggctcGgaatggctgggtctctgggt	2	15	17	7	1	1	0	0	0	1	0	4	1	2	1	1	7	0	4	1	7	1	3	rs104893721		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr3:190126225G>A	ENST00000264734.2	+	4	963	c.715G>A	c.(715-717)Gga>Aga	p.G239R	CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	239			G -> R (in HOMG3).		calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGTTGGCTCGGAATGGCTGG	0.383													A	190126225	G	A	190126225	3	1	352	1	0	0	0	0	1	0	0	0	3508	1117	39	1	729	1	CLDN16	3	190126225	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	34580117	190126225	7896205	10	22960											
FAM193A	8603	broad.mit.edu	37	chr4	2691417	2691417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcctggcactttcttgcCagatacaatttctggtaagg	10	13	9	9	0	2	1	0	0	2	1	3	2	3	1	2	3	2	2	2	3	4	5			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr4:2691417C>T	ENST00000324666.5	+	12	1994	c.1643C>T	c.(1642-1644)cCa>cTa	p.P548L	FAM193A_ENST00000545951.1_Missense_Mutation_p.P548L|FAM193A_ENST00000505311.1_Missense_Mutation_p.P548L|FAM193A_ENST00000382839.3_Missense_Mutation_p.P548L|FAM193A_ENST00000502458.1_Missense_Mutation_p.P570L	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	548										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						ACTTTCTTGCCAGATACAATT	0.383													T	2691417	C	T	2691417	3	4	352	1	0	0	0	0	1	0	0	0	5571	594	21	2	1681	2	FAM193A	4	2691417	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		2691417	188462859	11	22961											
SH3D19	152503	broad.mit.edu	37	chr4	152053505	152053506	+	Frame_Shift_Del	DEL	TC	TC	-																															gagagtttgagccagaatctTcttttttggttttcagtggt																										TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr4:152053505_152053506delTC	ENST00000409598.4	-	17	3046_3047	c.1879_1880delGA	c.(1879-1881)gaafs	p.E627fs	SH3D19_ENST00000455740.1_Frame_Shift_Del_p.E627fs|SH3D19_ENST00000304527.4_Frame_Shift_Del_p.E650fs|SH3D19_ENST00000427414.2_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000514152.1_Frame_Shift_Del_p.E627fs|SH3D19_ENST00000424281.1_Frame_Shift_Del_p.E591fs|SH3D19_ENST00000409252.2_Frame_Shift_Del_p.E650fs			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	650	SH3 3.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GCCAGAATCTTCTTTTTTGGTT	0.366													-	152053506	TC	-	152053505	7	5	352	1	0	1	0	1	0	0	0	0	14342	1783	62	0	439	0	SH3D19	4	152053505	Frame_Shift_Del	DEL	TC	TCGA-DH-A7UV-01A-12D-A34A-08	149362088	152053505	39100771	12	22962											
ROS1	6098	broad.mit.edu	37	chr6	117717388	117717388	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatactagattctgcttcTggaccctcaccaacttcatt	10	14	5	12	0	4	1	2	0	2	1	4	2	4	2	2	1	3	2	2	1	4	7			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr6:117717388T>C	ENST00000368508.3	-	8	1017	c.819A>G	c.(817-819)ccA>ccG	p.P273P	ROS1_ENST00000368507.3_Silent_p.P282P|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	273	Fibronectin type-III 2.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATTCTGCTTCTGGACCCTCAC	0.438			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								C	117717388	T	C	117717388	2	2	352	1	0	0	0	0	0	0	0	1	13622	1567	55	3		3	ROS1	6	117717388	Silent	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		117717388	53397679	13	22963											
TAGAP	117289	broad.mit.edu	37	chr6	159457333	159457333	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatccaccgagagggcGtggggtctcaggcagaagcc	10	5	14	12	2	2	2	2	0	1	2	4	3	3	2	3	4	1	1	3	4	1	0			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr6:159457333G>A	ENST00000367066.3	-	10	2053	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TAGAP_ENST00000326965.6_Silent_p.H396H|RP1-111C20.4_ENST00000607796.1_RNA|RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	574					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CCGAGAGGGCGTGGGGTCTCA	0.612													A	159457333	G	A	159457333	2	1	352	1	0	0	0	0	0	0	0	1	15634	1136	40	1		1	TAGAP	6	159457333	Silent	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	41739945	159457333	11657734	14	22964											
CD36	948	broad.mit.edu	37	chr7	80302135	80302135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctgcaggtcaacctatTggtcaagccatcagaaaaaa	15	7	9	10	1	3	1	3	0	0	1	3	1	3	1	2	3	3	2	2	3	6	2			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr7:80302135T>C	ENST00000435819.1	+	15	1859	c.1175T>C	c.(1174-1176)tTg>tCg	p.L392S	CD36_ENST00000394788.3_Missense_Mutation_p.L392S|CD36_ENST00000544133.1_3'UTR|CD36_ENST00000309881.7_Missense_Mutation_p.L392S|CD36_ENST00000538969.1_Missense_Mutation_p.L332S|CD36_ENST00000433696.2_Missense_Mutation_p.L353S|CD36_ENST00000447544.2_Missense_Mutation_p.L392S|CD36_ENST00000432207.1_Missense_Mutation_p.L392S|CD36_ENST00000534394.1_Missense_Mutation_p.L316S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	392					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						GTCAACCTATTGGTCAAGCCA	0.303													C	80302135	T	C	80302135	3	2	352	1	0	0	0	0	1	0	0	0	3037	1821	63	3	1213	3	CD36	7	80302135	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		80302135	78836528	15	22965											
FSCN3	29999	broad.mit.edu	37	chr7	127235774	127235774	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgttgcatttccgagaTggatgctaccacctggagac	8	12	10	11	1	0	2	0	0	0	2	2	5	2	3	4	2	3	3	4	2	1	4			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr7:127235774T>C	ENST00000265825.5	+	2	777	c.558T>C	c.(556-558)gaT>gaC	p.D186D	FSCN3_ENST00000420086.2_Silent_p.D52D	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	186						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						ATTTCCGAGATGGATGCTACC	0.577													C	127235774	T	C	127235774	2	2	352	1	0	0	0	0	0	0	0	1	6121	1461	51	3		3	FSCN3	7	127235774	Silent	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	46933639	127235774	31902889	16	22966											
FREM1	158326	broad.mit.edu	37	chr9	14797510	14797510	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttacttgctcagcattggTttttcatcattaactgggat	8	17	8	8	0	3	0	3	0	0	0	3	1	3	1	0	2	4	4	0	2	2	6			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr9:14797510T>G	ENST00000380881.4	-	22	4643	c.3828A>C	c.(3826-3828)aaA>aaC	p.K1276N	FREM1_ENST00000380880.3_Missense_Mutation_p.K1275N|FREM1_ENST00000422223.2_Missense_Mutation_p.K1275N			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1275					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCAGCATTGGTTTTTCATCAT	0.378													G	14797510	T	G	14797510	3	3	352	1	0	0	0	0	1	0	0	0	6096	1722	60	5	2832	5	FREM1	9	14797510	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		14797510	126415921	17	22967											
PCDH15	65217	broad.mit.edu	37	chr10	55581623	55581623	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaaagcaacattacaGtgaagtagattgactgtgag	18	9	10	4	0	0	5	0	3	0	2	0	5	0	5	0	0	3	2	0	0	7	4			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr10:55581623G>C	ENST00000361849.3	-	34	6263	c.5869C>G	c.(5869-5871)Ctg>Gtg	p.L1957V	PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.L1915V|PCDH15_ENST00000373957.3_Missense_Mutation_p.L809V|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.L1932V|PCDH15_ENST00000437009.1_Missense_Mutation_p.L1886V|PCDH15_ENST00000395430.1_Missense_Mutation_p.L1952V|PCDH15_ENST00000320301.6_Missense_Mutation_p.L1955V|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000463095.1_5'UTR	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1955					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CAACATTACAGTGAAGTAGAT	0.338										HNSCC(58;0.16)			C	55581623	G	C	55581623	3	2	352	1	0	0	0	0	1	0	0	0	11587	1020	36	4	1614	4	PCDH15	10	55581623	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		55581623	79953124	18	22968											
PTEN	5728	broad.mit.edu	37	chr10	89725053	89725053	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttctctaggtgaagctgTacttcacaaaaacagtagag	13	12	8	8	0	3	2	1	1	2	1	4	2	3	2	0	1	3	3	0	1	6	5			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr10:89725053T>C	ENST00000371953.3	+	9	2393	c.1036T>C	c.(1036-1038)Tac>Cac	p.Y346H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	346	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGTGAAGCTGTACTTCACAAA	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89725053	T	C	89725053	3	2	352	1	0	0	0	0	1	0	0	0	12823	1638	57	3	1070	3	PTEN	10	89725053	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	34143430	89725053	45809694	19	22969											
GIF	2694	broad.mit.edu	37	chr11	59604797	59604797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgcagttccattccttttTagatggctcaggtgttacag	7	16	9	9	0	1	1	1	0	0	1	3	1	3	1	2	2	2	4	2	2	2	7			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:59604797T>C	ENST00000541311.1	-	6	880	c.646A>G	c.(646-648)Aaa>Gaa	p.K216E	GIF_ENST00000257248.2_Missense_Mutation_p.K241E			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	241					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CATTCCTTTTTAGATGGCTCA	0.438													C	59604797	T	C	59604797	3	2	352	1	0	0	0	0	1	0	0	0	6432	1763	61	3	548	3	GIF	11	59604797	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		59604797	75401719	20	22970											
ZNF202	7753	broad.mit.edu	37	chr11	123598184	123598184	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtttttgtcattcctcacCtgtgtaggtaaaactcagga	9	14	8	10	1	3	0	3	0	0	0	4	1	4	1	3	2	1	3	3	2	3	5			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:123598184C>G	ENST00000336139.4	-	7	1314	c.952G>C	c.(952-954)Gga>Cga	p.G318R	ZNF202_ENST00000530393.1_Splice_Site_p.G318R|ZNF202_ENST00000529691.1_Splice_Site_p.G318R			O95125	ZN202_HUMAN	zinc finger protein 202	318					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		CATTCCTCACCTGTGTAGGTA	0.512													G	123598184	C	G	123598184	5	3	352	1	0	0	0	0	0	0	1	0	17864	695	24	4	1002	4	ZNF202	11	123598184	Splice_Site	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	63993387	123598184	11408332	21	22971											
ST14	6768	broad.mit.edu	37	chr11	130058057	130058057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctgccagtcaacaacGtcaagaaggtggaaaagcat	15	7	10	9	1	2	1	2	0	0	1	3	2	3	2	2	2	4	2	2	2	6	1	rs142893442		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr11:130058057G>A	ENST00000278742.5	+	2	548	c.130G>A	c.(130-132)Gtc>Atc	p.V44I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	44					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGTCAACAACGTCAAGAAGGT	0.622													A	130058057	G	A	130058057	3	1	352	1	0	0	0	0	1	0	0	0	15307	1145	40	1	136	1	ST14	11	130058057	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	6459873	130058057	4948459	22	22972											
SCNN1A	6337	broad.mit.edu	37	chr12	6483848	6483848	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgctggggcgccgcaggTtcggggcccagcccctgctc	2	6	17	16	3	0	0	0	0	0	0	2	0	0	0	4	6	3	5	4	6	0	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr12:6483848T>C	ENST00000358945.3	-	1	542	c.102A>G	c.(100-102)gaA>gaG	p.E34E	SCNN1A_ENST00000360168.3_Silent_p.E93E|SCNN1A_ENST00000538979.1_Intron|SCNN1A_ENST00000396966.2_Silent_p.E34E|SCNN1A_ENST00000543768.1_Silent_p.E57E|SCNN1A_ENST00000228916.2_Silent_p.E34E			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	34					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	GCGCCGCAGGTTCGGGGCCCA	0.642													C	6483848	T	C	6483848	2	2	352	1	0	0	0	0	0	0	0	1	14020	1722	60	3		3	SCNN1A	12	6483848	Silent	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		6483848	127368047	23	22973											
CLEC12B	387837	broad.mit.edu	37	chr12	10165410	10165410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccatctcccatttggCgtcatgctgctctgggtctg	4	13	10	14	1	4	0	1	0	3	0	6	0	5	0	2	2	3	3	2	2	0	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr12:10165410C>G	ENST00000396502.1	+	2	246	c.118C>G	c.(118-120)Cgt>Ggt	p.R40G	CLEC12B_ENST00000338896.5_Missense_Mutation_p.R40G|CLEC1B_ENST00000428126.2_Intron	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	40						integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						TCCCATTTGGCGTCATGCTGC	0.463													G	10165410	C	G	10165410	3	3	352	1	0	0	0	0	1	0	0	0	3529	768	27	4	124	4	CLEC12B	12	10165410	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	3681562	10165410	123686485	24	22974											
RNF17	56163	broad.mit.edu	37	chr13	25451163	25451163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattccttctcatcttatgCggtatccagctcgagccata	10	13	6	12	2	2	0	1	0	2	0	6	1	4	0	3	1	3	2	3	1	4	5			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr13:25451163C>T	ENST00000255324.5	+	34	4664	c.4612C>T	c.(4612-4614)Cgg>Tgg	p.R1538W	RNF17_ENST00000339524.3_Missense_Mutation_p.R548W|RNF17_ENST00000381921.1_Missense_Mutation_p.R1496W	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1538	Tudor 4.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCATCTTATGCGGTATCCAGC	0.403													T	25451163	C	T	25451163	3	4	352	1	0	0	0	0	1	0	0	0	13552	759	27	1	4746	1	RNF17	13	25451163	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		25451163	89718715	25	22975											
PSMC1	5700	broad.mit.edu	37	chr14	90722942	90722942	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagtggccaaggcaagAtggtgagtgactaagggttt	11	9	15	6	0	1	3	1	2	0	1	1	3	1	3	1	4	0	3	1	4	4	2			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr14:90722942A>G	ENST00000261303.8	+	1	104	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	PSMC1_ENST00000543772.2_5'UTR	NM_002802.2	NP_002793.2	P62191	PRS4_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 1	1					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			endometrium(2)|kidney(2)|upper_aerodigestive_tract(2)	6		all_cancers(154;0.142)		COAD - Colon adenocarcinoma(157;0.21)		CCAAGGCAAGATGGTGAGTGA	0.622													G	90722942	A	G	90722942	1	3	352	1	0	0	0	0	0	0	0	0	12770	333	12	3		3	PSMC1	14	90722942	Translation_Start_Site	SNP	A	TCGA-DH-A7UV-01A-12D-A34A-08		90722942	16626598	26	22976											
VPS18	57617	broad.mit.edu	37	chr15	41191832	41191832	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctacagtgagttggccttCtacacccccaagctgcgctc	7	9	10	15	1	1	1	0	1	1	0	2	1	1	1	3	2	4	4	3	2	3	4			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:41191832C>G	ENST00000220509.5	+	4	1155	c.816C>G	c.(814-816)ttC>ttG	p.F272L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	272					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGTTGGCCTTCTACACCCCCA	0.622													G	41191832	C	G	41191832	3	3	352	1	0	0	0	0	1	0	0	0	17296	912	32	4	830	4	VPS18	15	41191832	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		41191832	61339560	27	22977											
USP3	9960	broad.mit.edu	37	chr15	63855173	63855173	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttagcccagagtccttaTtttatgttgtttggaagatt	9	18	8	6	0	0	2	0	0	0	2	1	3	1	3	2	1	1	2	2	1	4	8			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:63855173T>G	ENST00000539772.1	+	0	255				USP3_ENST00000268049.7_Missense_Mutation_p.F221V|USP3_ENST00000559711.1_Missense_Mutation_p.F154V|USP3_ENST00000540797.1_Missense_Mutation_p.F199V|USP3_ENST00000380324.3_Missense_Mutation_p.F243V|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.F226V			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3						DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAGTCCTTATTTTATGTTGT	0.343													G	63855173	T	G	63855173	1	3	352	1	0	0	0	0	0	0	0	0	17162	1493	52	5		5	USP3	15	63855173	Translation_Start_Site	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08	22663341	63855173	38676219	28	22978											
C15orf27	123591	broad.mit.edu	37	chr15	76449044	76449044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctggtagcctgtgtaatAttggtggtgattctcctgac	6	16	11	8	0	1	2	0	2	1	0	3	2	2	2	3	3	1	2	3	3	3	6			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr15:76449044A>G	ENST00000388942.3	+	4	603	c.327A>G	c.(325-327)atA>atG	p.I109M		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	109						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCTGTGTAATATTGGTGGTGA	0.448													G	76449044	A	G	76449044	3	3	352	1	0	0	0	0	1	0	0	0	1801	439	16	3	337	3	C15orf27	15	76449044	Missense_Mutation	SNP	A	TCGA-DH-A7UV-01A-12D-A34A-08	12593871	76449044	26082348	29	22979											
PSMB10	5699	broad.mit.edu	37	chr16	67968568	67968568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaggcacaaagtggtagcgGccagacctgggagggaggag	11	3	18	9	1	0	1	0	0	0	1	0	4	0	4	3	6	1	2	3	6	2	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr16:67968568G>A	ENST00000358514.4	-	8	1054	c.717C>T	c.(715-717)ggC>ggT	p.G239G	CTC-479C5.12_ENST00000573493.1_3'UTR	NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	239					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	p.G239G(2)		NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		AGTGGTAGCGGCCAGACCTGG	0.597													A	67968568	G	A	67968568	2	1	352	1	0	0	0	0	0	0	0	1	12760	1190	42	2		2	PSMB10	16	67968568	Silent	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		67968568	22386185	30	22980											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	352	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		7577121	73618089	31	22981											
SLC6A4	6532	broad.mit.edu	37	chr17	28537613	28537613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggcgcttggcccagaCgtgtgggaactcatccagca	7	7	12	15	3	1	1	1	0	0	1	3	2	3	2	3	3	2	2	3	3	1	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:28537613C>T	ENST00000401766.2	-	10	1881	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	457					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.V457I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TTGGCCCAGACGTGTGGGAAC	0.597													T	28537613	C	T	28537613	3	4	352	1	0	0	0	0	1	0	0	0	14780	536	19	1	543	1	SLC6A4	17	28537613	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08	20960492	28537613	52657597	32	22982											
CCT6B	10693	broad.mit.edu	37	chr17	33258005	33258005	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaagttgttttgactcGacatgctcagcctgaacttt	9	13	7	12	1	1	2	1	2	0	0	2	3	1	2	2	0	3	3	2	0	2	4			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr17:33258005G>T	ENST00000314144.5	-	12	1528	c.1413C>A	c.(1411-1413)gtC>gtA	p.V471V	CCT6B_ENST00000436961.3_Silent_p.V426V|CCT6B_ENST00000421975.3_Silent_p.V434V	NM_006584.3	NP_006575.2	Q92526	TCPW_HUMAN	chaperonin containing TCP1, subunit 6B (zeta 2)	471					chaperone-mediated protein complex assembly|protein folding|spermatogenesis	cytoplasm	ATP binding|protein transporter activity|unfolded protein binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)	20		Ovarian(249;0.17)				GTTTTGACTCGACATGCTCAG	0.333													T	33258005	G	T	33258005	2	4	352	1	0	0	0	0	0	0	0	1	2988	1045	37	4		4	CCT6B	17	33258005	Silent	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08	4720392	33258005	47937205	33	22983											
MAPK4	5596	broad.mit.edu	37	chr18	48252529	48252529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagccagctgtccaactggGacacgtgcagttccaggtgc	9	7	13	12	1	0	1	0	0	0	1	2	2	2	2	3	2	5	3	3	2	1	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr18:48252529G>A	ENST00000400384.2	+	5	2087	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	MAPK4_ENST00000540640.1_Missense_Mutation_p.D140N|MAPK4_ENST00000592595.1_Intron	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	351					cell cycle		ATP binding|MAP kinase activity			lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		GTCCAACTGGGACACGTGCAG	0.587													A	48252529	G	A	48252529	3	1	352	1	0	0	0	0	1	0	0	0	9355	1174	41	2	1065	2	MAPK4	18	48252529	Missense_Mutation	SNP	G	TCGA-DH-A7UV-01A-12D-A34A-08		48252529	29824719	34	22984											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-																															gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg																										TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								-	11106928	AGA	-	11106926	7	5	352	1	0	1	0	1	0	0	0	0	14864	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-DH-A7UV-01A-12D-A34A-08		11106926	48022057	35	22985											
KRTAP12-4	386684	broad.mit.edu	37	chr21	46074320	46074320	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcagctcacaggcacaCagcaggccacctggcagggg	9	4	14	14	0	1	0	1	0	0	0	1	0	1	0	2	5	3	6	2	5	0	1			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chr21:46074320C>G	ENST00000391618.1	-	1	256	c.212G>C	c.(211-213)tGt>tCt	p.C71S	TSPEAR_ENST00000323084.4_Intron	NM_198698.1	NP_941971.1	P60329	KR124_HUMAN	keratin associated protein 12-4	71	15 X 5 AA approximate repeats.					keratin filament				lung(4)|ovary(1)|prostate(1)	6						CACAGGCACACAGCAGGCCAC	0.647													G	46074320	C	G	46074320	3	3	352	1	0	0	0	0	1	0	0	0	8579	478	17	4	130	4	KRTAP12-4	21	46074320	Missense_Mutation	SNP	C	TCGA-DH-A7UV-01A-12D-A34A-08		46074320	2055575	36	22986											
BCOR	54880	broad.mit.edu	37	chrX	39913577	39913577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgcgaccctggaggtcaTttaaataatctggagggaga	12	10	12	7	1	2	1	1	0	1	1	2	5	2	3	1	4	1	0	1	4	3	4			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:39913577T>C	ENST00000342274.4	-	13	5011	c.4649A>G	c.(4648-4650)aAt>aGt	p.N1550S	BCOR_ENST00000397354.3_Missense_Mutation_p.N1550S|BCOR_ENST00000378455.4_Missense_Mutation_p.N1532S|BCOR_ENST00000378444.4_Missense_Mutation_p.N1584S|BCOR_ENST00000378463.1_Missense_Mutation_p.N427S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1584					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CTGGAGGTCATTTAAATAATC	0.423			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						C	39913577	T	C	39913577	3	2	352	1	0	0	0	0	1	0	0	0	1391	1493	52	3	528	3	BCOR	23	39913577	Missense_Mutation	SNP	T	TCGA-DH-A7UV-01A-12D-A34A-08		39913577	115356983	37	22987											
CCNB3	85417	broad.mit.edu	37	chrX	50085216	50085216	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtgtcctttgagatgAcccatgagaccctgtacttg	8	12	10	11	0	0	3	0	3	0	2	2	5	2	3	4	1	1	1	4	1	1	3			TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:50085216A>C	ENST00000376042.1	+	9	3830	c.3532A>C	c.(3532-3534)Acc>Ccc	p.T1178P	CCNB3_ENST00000276014.7_Missense_Mutation_p.T1178P|CCNB3_ENST00000376038.1_Missense_Mutation_p.T74P|CCNB3_ENST00000348603.2_Missense_Mutation_p.T74P			Q8WWL7	CCNB3_HUMAN	cyclin B3	1178					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTGAGATGACCCATGAGAC	0.493													C	50085216	A	C	50085216	3	2	352	1	0	0	0	0	1	0	0	0	2944	275	10	5	3558	5	CCNB3	23	50085216	Missense_Mutation	SNP	A	TCGA-DH-A7UV-01A-12D-A34A-08	10171639	50085216	105185344	38	22988											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-																															ttgctgcttcttaggaagtcGatctcttaattccatgatgg																										TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938029	G	-	76938029	7	5	352	1	0	1	0	1	0	0	0	0	1213	1066	37	0	4867	0	ATRX	23	76938029	Frame_Shift_Del	DEL	G	TCGA-DH-A7UV-01A-12D-A34A-08	26852813	76938029	78332531	39	22989											
ATRX	546	broad.mit.edu	37	chrX	76939607	76939607	+	Frame_Shift_Del	DEL	A	A	-																															tgtagcagaactgatttctgAattatctgttgcctgcttta																										TCGA-DH-A7UV-01A-12D-A34A-08	TCGA-DH-A7UV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f6d5d9d-1d5b-47c6-b4ca-276a6655f808	f6cf33cc-61be-4409-bf15-16edfe3e19bc	g.chrX:76939607delA	ENST00000373344.5	-	9	1355	c.1141delT	c.(1141-1143)tcafs	p.S381fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S343fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	381					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)	CTGATTTCTGAATTATCTGTT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939607	A	-	76939607	7	5	352	1	0	1	0	1	0	0	0	0	1213	246	9	0	6445	0	ATRX	23	76939607	Frame_Shift_Del	DEL	A	TCGA-DH-A7UV-01A-12D-A34A-08	1578	76939607	78330953	40	22990											
FLG	2312	broad.mit.edu	37	chr1	152278733	152278733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggacccctctgattGtccctggactgcctgtgagt	4	13	10	14	0	2	2	0	2	2	0	4	4	3	4	5	2	1	0	5	2	0	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152278733G>T	ENST00000368799.1	-	3	8664	c.8629C>A	c.(8629-8631)Caa>Aaa	p.Q2877K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2877	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTCTGATTGTCCCTGGACT	0.577									Ichthyosis				T	152278733	G	T	152278733	3	4	353	1	0	0	0	0	1	0	0	0	5971	1386	48	4	3560	4	FLG	1	152278733	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08		152278733	96971888	1	22991											
CRNN	49860	broad.mit.edu	37	chr1	152382287	152382287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccttctgtcacacagCgccttgggtgagtgctgctc	4	11	11	15	1	2	1	1	1	1	0	3	1	2	1	3	1	4	2	3	1	0	2	rs150002541	by1000genomes	TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:152382287C>T	ENST00000271835.3	-	3	1333	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	RP1-91G5.3_ENST00000411804.1_RNA	NM_016190.2	NP_057274.1	Q9UBG3	CRNN_HUMAN	cornulin	424					cell-cell adhesion|response to heat	cytoplasm|membrane	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCACACAGCGCCTTGGGTG	0.602													T	152382287	C	T	152382287	3	4	353	1	0	0	0	0	1	0	0	0	3923	768	27	1	220	1	CRNN	1	152382287	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	103554	152382287	96868334	2	22992											
C4BPB	725	broad.mit.edu	37	chr1	207265091	207265091	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgcaatgaccactacaTcctcaagggcagcaatcgga	13	8	9	11	1	1	1	1	1	0	0	3	2	2	2	2	2	3	3	2	2	5	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:207265091T>A	ENST00000243611.5	+	3	629	c.335T>A	c.(334-336)aTc>aAc	p.I112N	C4BPB_ENST00000367078.3_Missense_Mutation_p.I112N|C4BPB_ENST00000451804.2_Missense_Mutation_p.I102N|C4BPB_ENST00000367076.3_Missense_Mutation_p.I111N|C4BPB_ENST00000391923.1_Missense_Mutation_p.I112N	NM_000716.3	NP_000707.1	P20851	C4BPB_HUMAN	complement component 4 binding protein, beta	112	Sushi 2.				blood coagulation|complement activation, classical pathway|innate immune response	extracellular region				breast(2)|lung(1)|ovary(1)	4						GACCACTACATCCTCAAGGGC	0.493													A	207265091	T	A	207265091	3	1	353	1	0	0	0	0	1	0	0	0	2272	1435	50	5	345	5	C4BPB	1	207265091	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08	54882804	207265091	41985530	3	22993											
PARP1	142	broad.mit.edu	37	chr1	226553737	226553737	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgatctcggcttcttcaGaatctctgtcaaccacctgg	8	13	8	12	1	5	3	2	2	3	1	7	3	5	3	2	2	1	1	2	2	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:226553737G>C	ENST00000366794.5	-	18	2566	c.2423C>G	c.(2422-2424)tCt>tGt	p.S808C	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	808	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GGCTTCTTCAGAATCTCTGTC	0.448								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					C	226553737	G	C	226553737	3	2	353	1	0	0	0	0	1	0	0	0	11530	942	33	4	645	4	PARP1	1	226553737	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	19288646	226553737	22696884	4	22994											
OBSCN	84033	broad.mit.edu	37	chr1	228486408	228486408	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaggacctcggccacgctCactgtcaggggtaaagtcca	10	6	13	12	2	2	1	2	0	0	1	4	3	3	2	3	4	0	2	3	4	2	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr1:228486408C>T	ENST00000570156.2	+	49	13274	c.13200C>T	c.(13198-13200)ctC>ctT	p.L4400L	RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366707.4_Silent_p.L1090L|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000366709.4_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3443	Ig-like 45.|Poly-Leu.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CGGCCACGCTCACTGTCAGGG	0.547													T	228486408	C	T	228486408	2	4	353	1	0	0	0	0	0	0	0	1	10888	841	29	2		2	OBSCN	1	228486408	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	1932671	228486408	20764213	5	22995											
APOB	338	broad.mit.edu	37	chr2	21226162	21226162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcatcagattcccggacCctcaactcagttttgaatat	10	13	5	13	1	4	2	4	1	0	1	6	3	6	3	3	1	1	1	3	1	3	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:21226162C>T	ENST00000233242.1	-	29	12259	c.12132G>A	c.(12130-12132)agG>agA	p.R4044R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4044					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATTCCCGGACCCTCAACTCAG	0.393													T	21226162	C	T	21226162	2	4	353	1	0	0	0	0	0	0	0	1	788	622	22	2		2	APOB	2	21226162	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		21226162	221973211	6	22996											
GPR75	10936	broad.mit.edu	37	chr2	54081969	54081969	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagctcacagatgagcAatatgtgacaaaagaggccc	14	6	10	11	0	2	4	2	2	0	2	2	4	2	4	2	1	2	2	2	1	4	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:54081969A>C	ENST00000394705.2	-	0	195				ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75							integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			ACAGATGAGCAATATGTGACA	0.438													C	54081969	A	C	54081969	1	2	353	1	0	0	0	0	0	0	0	0	6762	145	5	5		5	GPR75	2	54081969	Translation_Start_Site	SNP	A	TCGA-DU-5847-01A-11D-1705-08	32855807	54081969	189117404	7	22997											
POTEF	728378	broad.mit.edu	37	chr2	130832726	130832726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagttggtgatgatgccGtgttccatggggtacttcag	6	13	13	9	1	1	2	1	2	0	0	3	2	3	2	3	3	2	3	3	3	1	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:130832726G>A	ENST00000357462.5	-	15	2412	c.2319C>T	c.(2317-2319)caC>caT	p.H773H	POTEF_ENST00000409914.2_Silent_p.H773H			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	773	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TGATGATGCCGTGTTCCATGG	0.582													A	130832726	G	A	130832726	2	1	353	1	0	0	0	0	0	0	0	1	12342	1136	40	1		1	POTEF	2	130832726	Silent	SNP	G	TCGA-DU-5847-01A-11D-1705-08	76750757	130832726	112366647	8	22998											
MFSD6	54842	broad.mit.edu	37	chr2	191301884	191301884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcttcatcgtcttcggcGttctcatgaccatggccttg	4	15	9	13	4	4	1	2	1	3	0	8	1	4	1	2	2	0	1	2	2	0	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr2:191301884G>A	ENST00000392328.1	+	3	1453	c.1129G>A	c.(1129-1131)Gtt>Att	p.V377I	MFSD6_ENST00000281416.7_Missense_Mutation_p.V377I	NM_017694.3	NP_060164.3	Q6ZSS7	MFSD6_HUMAN	major facilitator superfamily domain containing 6	377					transmembrane transport	integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(3)|stomach(1)	23						CGTCTTCGGCGTTCTCATGAC	0.512													A	191301884	G	A	191301884	3	1	353	1	0	0	0	0	1	0	0	0	9610	1145	40	1	1131	1	MFSD6	2	191301884	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	60469158	191301884	51897489	9	22999											
SLC25A38	54977	broad.mit.edu	37	chr3	39431997	39431997	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggaaagggatgtcccCtgtaagctgccatctgggtc	7	11	12	11	0	1	0	0	0	1	0	3	2	2	2	4	3	2	2	4	3	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr3:39431997C>T	ENST00000273158.4	+	3	652	c.275C>T	c.(274-276)cCt>cTt	p.P92L		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	92					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GGGATGTCCCCTGTAAGCTGC	0.478													T	39431997	C	T	39431997	5	4	353	1	0	0	0	0	0	0	1	0	14596	695	24	2	285	2	SLC25A38	3	39431997	Splice_Site	SNP	C	TCGA-DU-5847-01A-11D-1705-08		39431997	158590433	10	23000											
KDR	3791	broad.mit.edu	37	chr4	55956204	55956204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaaccacgttcttctcCgataagaggatatttcgtgc	10	15	7	9	3	2	1	0	0	2	1	4	3	2	2	2	1	2	1	2	1	3	7	rs147630437		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:55956204C>T	ENST00000263923.4	-	23	3406	c.3111G>A	c.(3109-3111)tcG>tcA	p.S1037S	RP11-530I17.1_ENST00000511222.1_RNA	NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	1037	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CGTTCTTCTCCGATAAGAGGA	0.428			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55956204	C	T	55956204	2	4	353	1	0	0	0	0	0	0	0	1	8197	639	23	1		1	KDR	4	55956204	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		55956204	135198072	11	23001											
SEC31A	22872	broad.mit.edu	37	chr4	83763471	83763471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaggtaggtgaagaggcctgGtgctgtgctgcgtacagctg	7	9	18	7	1	0	2	0	1	0	1	0	3	0	2	1	4	5	5	1	4	3	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:83763471G>C	ENST00000432794.1	-	22	2953	c.2790C>G	c.(2788-2790)caC>caG	p.H930Q	SEC31A_ENST00000448323.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000264405.5_Missense_Mutation_p.H694Q|SEC31A_ENST00000508502.1_Missense_Mutation_p.H930Q|SEC31A_ENST00000513858.1_Intron|SEC31A_ENST00000326950.5_Missense_Mutation_p.H891Q|SEC31A_ENST00000509142.1_Intron|SEC31A_ENST00000505984.1_Missense_Mutation_p.H891Q|SEC31A_ENST00000348405.4_Missense_Mutation_p.H891Q|SEC31A_ENST00000395310.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000443462.2_Missense_Mutation_p.H925Q|SEC31A_ENST00000311785.7_Intron|SEC31A_ENST00000355196.2_Missense_Mutation_p.H930Q|SEC31A_ENST00000505472.1_Missense_Mutation_p.H961Q|SEC31A_ENST00000500777.2_Intron			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	930	Interaction with PDCD6.|Pro-rich.				COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				AAGAGGCCTGGTGCTGTGCTG	0.552													C	83763471	G	C	83763471	3	2	353	1	0	0	0	0	1	0	0	0	14091	1252	44	4	896	4	SEC31A	4	83763471	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08	27807267	83763471	107390805	12	23002											
RXFP1	59350	broad.mit.edu	37	chr4	159526262	159526262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaagcttcctcctgattgCttcaagaattatcatgatct	12	14	6	9	0	3	4	2	2	1	2	5	4	5	4	2	0	2	2	2	0	4	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:159526262C>T	ENST00000307765.5	+	5	686	c.435C>T	c.(433-435)tgC>tgT	p.C145C	RXFP1_ENST00000448688.2_Silent_p.C64C|RXFP1_ENST00000343542.5_Silent_p.C145C|RXFP1_ENST00000423548.1_Silent_p.C145C|RXFP1_ENST00000470033.1_Silent_p.C112C|RXFP1_ENST00000460056.2_Silent_p.C64C	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	145						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CTCCTGATTGCTTCAAGAATT	0.299													T	159526262	C	T	159526262	2	4	353	1	0	0	0	0	0	0	0	1	13850	805	28	2		2	RXFP1	4	159526262	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	75762791	159526262	31628014	13	23003											
ZFP42	132625	broad.mit.edu	37	chr4	188924355	188924355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaggggtaaagaaagagcttCcacaaaagatagttggagag	18	6	13	4	0	0	4	0	0	0	4	1	5	1	4	1	3	1	3	1	3	7	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr4:188924355C>T	ENST00000326866.4	+	4	802	c.394C>T	c.(394-396)Cca>Tca	p.P132S	ZFP42_ENST00000509524.1_Missense_Mutation_p.P132S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	132					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAAAGAGCTTCCACAAAAGAT	0.418													T	188924355	C	T	188924355	3	4	353	1	0	0	0	0	1	0	0	0	17751	855	30	2	396	2	ZFP42	4	188924355	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	29398093	188924355	2229921	14	23004											
PCDHB13	56123	broad.mit.edu	37	chr5	140594885	140594885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttcctcctgaaatccgCggaaaacttttacaccctac	11	10	4	16	2	0	1	0	1	0	0	3	2	3	2	5	1	3	0	5	1	5	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:140594885C>T	ENST00000341948.4	+	1	1377	c.1190C>T	c.(1189-1191)gCg>gTg	p.A397V		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		397	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTGAAATCCGCGGAAAACTTT	0.453													T	140594885	C	T	140594885	3	4	353	1	0	0	0	0	1	0	0	0	11614	768	27	1	1192	1	PCDHB13	5	140594885	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		140594885	40320375	15	23005											
GRM6	2916	broad.mit.edu	37	chr5	178418950	178418950	+	Missense_Mutation	SNP	C	C	A																															gccagcgtggacacatagttCcatcccagtgccctcacgat																										TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418950C>A	ENST00000231188.5	-	2	817	c.639G>T	c.(637-639)tgG>tgT	p.W213C	GRM6_ENST00000517717.1_Missense_Mutation_p.W213C	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		ACACATAGTTCCATCCCAGTG	0.622													A	178418950	C	A	178418950	3	1	353	1	0	0	0	0	1	0	0	0	6856	856	30	4	2030	4	GRM6	5	178418950	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	37824065	178418950	2496310	16	23006	37	2									
GRM6	2916	broad.mit.edu	37	chr5	178418951	178418951	+	Nonsense_Mutation	SNP	C	C	T																															ccagcgtggacacatagttcCatcccagtgccctcacgatg																										TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr5:178418951C>T	ENST00000231188.5	-	2	816	c.638G>A	c.(637-639)tGg>tAg	p.W213*	GRM6_ENST00000517717.1_Nonsense_Mutation_p.W213*	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	213					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		CACATAGTTCCATCCCAGTGC	0.627													T	178418951	C	T	178418951	4	4	353	1	0	0	0	0	0	1	0	0	6856	595	21	2	2031	2	GRM6	5	178418951	Nonsense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	1	178418951	2496309	17	23007	37	2									
HIVEP1	3096	broad.mit.edu	37	chr6	12122495	12122495	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgaaaaatcaaagcaaGtgtttcttctgtctgtacct	12	14	6	9	0	4	1	1	1	3	0	4	1	4	1	1	0	3	3	1	0	6	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:12122495G>C	ENST00000379388.2	+	4	2799	c.2467G>C	c.(2467-2469)Gtg>Ctg	p.V823L		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	823					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATCAAAGCAAGTGTTTCTTCT	0.403													C	12122495	G	C	12122495	3	2	353	1	0	0	0	0	1	0	0	0	7241	1029	36	4	2477	4	HIVEP1	6	12122495	Missense_Mutation	SNP	G	TCGA-DU-5847-01A-11D-1705-08		12122495	158992572	18	23008											
PRDM13	59336	broad.mit.edu	37	chr6	100062566	100062566	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagagcgacgacagtgaCgtggacgtctgcttcacaga	11	6	12	12	4	2	3	1	1	1	2	2	6	2	4	1	1	2	1	1	1	1	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr6:100062566C>G	ENST00000369215.4	+	4	2360	c.2055C>G	c.(2053-2055)gaC>gaG	p.D685E		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	685					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		ACGACAGTGACGTGGACGTCT	0.701													G	100062566	C	G	100062566	3	3	353	1	0	0	0	0	1	0	0	0	12540	535	19	4	2069	4	PRDM13	6	100062566	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	87940071	100062566	71052501	19	23009											
COG5	10466	broad.mit.edu	37	chr7	107167729	107167729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgttatctctctacttcccCcttgcagttgtccttggagt	4	18	7	12	0	2	0	0	0	2	0	5	1	4	1	3	1	2	3	3	1	2	7			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr7:107167729C>T	ENST00000393603.2	-	6	855	c.584G>A	c.(583-585)gGg>gAg	p.G195E	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Missense_Mutation_p.G195E|COG5_ENST00000347053.3_Missense_Mutation_p.G195E	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	195					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TCTACTTCCCCCTTGCAGTTG	0.338													T	107167729	C	T	107167729	3	4	353	1	0	0	0	0	1	0	0	0	3692	623	22	2	2070	2	COG5	7	107167729	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		107167729	51970934	20	23010											
PTEN	5728	broad.mit.edu	37	chr10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A																															acaaggaatatctagtacttINSactttaacaaaaaatgatct																								rs146650273		TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720804	-	A	89720803	7	5	353	1	0	1	1	0	0	0	0	0	12823	1741	61	0	984	0	PTEN	10	89720803	Frame_Shift_Ins	INS	-	TCGA-DU-5847-01A-11D-1705-08		89720803	45813944	21	23011											
ANO9	338440	broad.mit.edu	37	chr11	418583	418583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgagcttgatgcacaaggCcacgtgctagcggcagcaca	11	6	13	11	2	0	2	0	2	0	0	0	3	0	2	1	2	5	5	1	2	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:418583C>T	ENST00000332826.6	-	23	2221	c.2137G>A	c.(2137-2139)Gcc>Acc	p.A713T		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	713						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						ATGCACAAGGCCACGTGCTAG	0.627													T	418583	C	T	418583	3	4	353	1	0	0	0	0	1	0	0	0	704	739	26	2	215	2	ANO9	11	418583	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		418583	134587933	22	23012											
OR2D2	120776	broad.mit.edu	37	chr11	6913294	6913294	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccactggtccatgatccTgttgccagctggacacacac	9	9	9	14	0	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	0	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr11:6913294T>C	ENST00000299459.2	-	1	536	c.438A>G	c.(436-438)acA>acG	p.T146T		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	146					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCATGATCCTGTTGCCAGCT	0.493													C	6913294	T	C	6913294	2	2	353	1	0	0	0	0	0	0	0	1	11070	1567	55	3		3	OR2D2	11	6913294	Silent	SNP	T	TCGA-DU-5847-01A-11D-1705-08	6494711	6913294	128093222	23	23013											
NCKAP1L	3071	broad.mit.edu	37	chr12	54902315	54902315	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagatgctgcatgggcatgGgtgagttaaggcgagagtat	10	10	17	4	1	0	3	0	2	0	2	0	5	0	3	0	3	2	5	0	3	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr12:54902315G>A	ENST00000293373.6	+	5	585	c.506G>A	c.(505-507)gGt>gAt	p.G169D	NCKAP1L_ENST00000545638.2_Splice_Site_p.G119D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	169					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CATGGGCATGGGTGAGTTAAG	0.423													A	54902315	G	A	54902315	5	1	353	1	0	0	0	0	0	0	1	0	10298	1246	43	2	524	2	NCKAP1L	12	54902315	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08		54902315	78949580	24	23014											
RB1	5925	broad.mit.edu	37	chr13	48953728	48953728	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctttttgtttgtttgtAgcgatacaaacttggagttc	7	21	8	5	1	1	0	0	0	1	0	2	2	1	1	0	1	3	4	0	1	3	10			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr13:48953728A>G	ENST00000267163.4	+	14	1470		c.e14-1			NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1						androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(10)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGTTTGTAGCGATACAAA	0.333		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			G	48953728	A	G	48953728	5	3	353	1	0	0	0	0	0	0	1	0	13186	434	15	3	1385	3	RB1	13	48953728	Splice_Site	SNP	A	TCGA-DU-5847-01A-11D-1705-08		48953728	66216150	25	23015											
GMPR2	51292	broad.mit.edu	37	chr14	24707610	24707610	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggcgtggctgagtacAggtatgtgtggaggcccagg	6	8	20	7	1	0	1	0	1	0	0	0	2	0	2	1	7	1	3	1	7	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr14:24707610A>T	ENST00000557854.1	+	8	1187	c.910A>T	c.(910-912)Agg>Tgg	p.R304W	GMPR2_ENST00000399440.2_Splice_Site_p.R286*|GMPR2_ENST00000420554.2_Splice_Site_p.R304*|GMPR2_ENST00000559104.1_Splice_Site_p.R271*|GMPR2_ENST00000348719.7_Missense_Mutation_p.R286W|GMPR2_ENST00000559836.1_Splice_Site_p.R286*|GMPR2_ENST00000355299.4_Splice_Site_p.R286*|GMPR2_ENST00000559910.1_Splice_Site_p.R253*|GMPR2_ENST00000456667.3_Splice_Site_p.R258*	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	286					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GGCTGAGTACAGGTATGTGTG	0.512													T	24707610	A	T	24707610	3	4	353	1	0	0	0	0	1	0	0	0	6553	202	7	5	940	5	GMPR2	14	24707610	Missense_Mutation	SNP	A	TCGA-DU-5847-01A-11D-1705-08		24707610	82641930	26	23016											
MAGEL2	54551	broad.mit.edu	37	chr15	23889301	23889301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggccaaaaacctcaggaCaagcatcttgctggtttcca	11	10	8	12	0	2	0	1	0	1	0	3	1	3	1	3	3	3	3	3	3	3	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:23889301C>T	ENST00000532292.1	-	1	1874	c.1780G>A	c.(1780-1782)Gtc>Atc	p.V594I		NM_019066.4	NP_061939.3			MAGE-like 2											breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		AACCTCAGGACAAGCATCTTG	0.522													T	23889301	C	T	23889301	3	4	353	1	0	0	0	0	1	0	0	0	9264	478	17	2	164	2	MAGEL2	15	23889301	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		23889301	78642091	27	23017											
MYO5A	4644	broad.mit.edu	37	chr15	52622645	52622645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgggaatgttgactggtCggatgggttcatcaatgatc	8	13	13	7	1	2	2	2	2	0	0	5	4	3	4	1	4	0	2	1	4	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr15:52622645C>T	ENST00000399231.3	-	34	4628	c.4385G>A	c.(4384-4386)cGa>cAa	p.R1462Q	MYO5A_ENST00000553916.1_Missense_Mutation_p.R1460Q|MYO5A_ENST00000358212.6_Missense_Mutation_p.R1487Q|MYO5A_ENST00000399233.2_Missense_Mutation_p.R1459Q|MYO5A_ENST00000356338.6_Missense_Mutation_p.R1435Q	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1462					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTTGACTGGTCGGATGGGTTC	0.418													T	52622645	C	T	52622645	3	4	353	1	0	0	0	0	1	0	0	0	10154	884	31	1	1214	1	MYO5A	15	52622645	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	28733344	52622645	49908747	28	23018											
OR3A2	4995	broad.mit.edu	37	chr17	3181629	3181629	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctcattgagttgggTgctggagcaggagagctgga	9	8	17	7	0	1	2	1	1	0	1	1	5	1	4	0	4	5	6	0	4	0	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:3181629T>A	ENST00000408891.2	-	1	639	c.601A>T	c.(601-603)Acc>Tcc	p.T201S		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	201					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TTGAGTTGGGTGCTGGAGCAG	0.552													A	3181629	T	A	3181629	3	1	353	1	0	0	0	0	1	0	0	0	11114	1696	59	5	368	5	OR3A2	17	3181629	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08		3181629	78013581	29	23019											
LGALS9C	654346	broad.mit.edu	37	chr17	18396173	18396173	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgaggccagagcttctcGgtaaggcgccgcagcctgga	7	6	15	13	4	1	1	0	0	1	1	3	3	2	2	4	4	2	3	4	4	1	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:18396173G>A	ENST00000328114.6	+	10	1005	c.924G>A	c.(922-924)tcG>tcA	p.S308S	LGALS9C_ENST00000581545.1_Intron|LGALS9C_ENST00000412421.2_Splice_Site_p.S220S|LGALS9C_ENST00000583322.1_Splice_Site_p.S275S|LGALS9C_ENST00000584941.1_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	308	Galectin 2.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						AGAGCTTCTCGGTAAGGCGCC	0.592													A	18396173	G	A	18396173	5	1	353	1	0	0	0	0	0	0	1	0	8810	1130	39	1	962	1	LGALS9C	17	18396173	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	15214544	18396173	62799037	30	23020											
NF1	4763	broad.mit.edu	37	chr17	29497016	29497016	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attaaaacgactcctgaaggGtaagtttaaatgtataatat	17	13	7	4	1	0	1	0	1	0	0	1	2	1	1	1	1	1	3	1	1	9	7			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29497016G>A	ENST00000358273.4	+	5	969		c.e5+1		NF1_ENST00000431387.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTCCTGAAGGGTAAGTTTAAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29497016	G	A	29497016	5	1	353	1	0	0	0	0	0	0	1	0	10432	1275	44	2	605	2	NF1	17	29497016	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	11100843	29497016	51698194	31	23021											
NF1	4763	broad.mit.edu	37	chr17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacagtgtctgaagaagttCgaagtcgctgcagcctaaaa	13	10	10	8	2	1	2	0	1	1	1	3	3	1	2	1	0	3	3	1	0	6	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29677227	C	T	29677227	4	4	353	1	0	0	0	0	0	1	0	0	10432	876	31	1	7607	1	NF1	17	29677227	Nonsense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	180211	29677227	51517983	32	23022											
SLC16A5	9121	broad.mit.edu	37	chr17	73096729	73096729	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaacctggtgtgtgcggCatcaggtgacttctgggtgc	6	11	14	10	1	2	1	1	1	1	0	2	1	2	1	1	4	3	1	1	4	1	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr17:73096729C>G	ENST00000450736.2	+	4	1386	c.971C>G	c.(970-972)gCa>gGa	p.A324G	SLC16A5_ENST00000538213.2_Missense_Mutation_p.A364G|SLC16A5_ENST00000329783.4_Missense_Mutation_p.A324G|SLC16A5_ENST00000580123.1_Missense_Mutation_p.A324G			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	324					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTGTGTGCGGCATCAGGTGAC	0.617													G	73096729	C	G	73096729	3	3	353	1	0	0	0	0	1	0	0	0	14505	710	25	4	981	4	SLC16A5	17	73096729	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	43419502	73096729	8098481	33	23023											
DSG2	1829	broad.mit.edu	37	chr18	29099849	29099849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcctggatcaccgccccCgtggctcttcgggagggaga	5	6	15	15	5	2	1	1	0	1	1	3	4	2	3	4	4	0	1	4	4	0	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr18:29099849C>T	ENST00000261590.8	+	3	374	c.165C>T	c.(163-165)ccC>ccT	p.P55P	DSG2_ENST00000585206.1_Silent_p.P55P	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	55	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TCACCGCCCCCGTGGCTCTTC	0.443													T	29099849	C	T	29099849	2	4	353	1	0	0	0	0	0	0	0	1	4816	639	23	1		1	DSG2	18	29099849	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08		29099849	48977399	34	23024											
CCDC159	126075	broad.mit.edu	37	chr19	11462650	11462650	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctatcagaagctccGtgagttcctggagcccacag	9	10	9	13	1	3	2	2	1	1	1	5	3	5	3	3	1	2	2	3	1	2	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:11462650G>A	ENST00000588790.1	+	8	937		c.e8+1		CCDC159_ENST00000458408.1_Splice_Site			P0C7I6	CC159_HUMAN	coiled-coil domain containing 159											endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	5						CAGAAGCTCCGTGAGTTCCTG	0.612													A	11462650	G	A	11462650	5	1	353	1	0	0	0	0	0	0	1	0	2818	1159	40	1	513	1	CCDC159	19	11462650	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08		11462650	47666333	35	23025											
ZNF429	353088	broad.mit.edu	37	chr19	21720518	21720518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcctcaagacttactcaaCataagaaaattcatactgga	16	10	6	9	0	3	2	3	0	0	2	4	3	4	3	1	2	3	0	1	2	7	4			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:21720518C>A	ENST00000358491.4	+	4	1871	c.1663C>A	c.(1663-1665)Cat>Aat	p.H555N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ACTTACTCAACATAAGAAAAT	0.353													A	21720518	C	A	21720518	3	1	353	1	0	0	0	0	1	0	0	0	18003	478	17	4	1677	4	ZNF429	19	21720518	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	10257868	21720518	37408465	36	23026											
ZNF536	9745	broad.mit.edu	37	chr19	30935048	30935048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggcgtgggcgtgtgcgCgaggagaaccgcctgctgca	7	5	19	10	5	0	1	0	0	0	1	0	3	0	1	2	4	4	2	2	4	2	0			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:30935048C>T	ENST00000355537.3	+	2	726	c.579C>T	c.(577-579)cgC>cgT	p.R193R		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	193					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCGTGTGCGCGAGGAGAACC	0.692													T	30935048	C	T	30935048	2	4	353	1	0	0	0	0	0	0	0	1	18075	755	27	1		1	ZNF536	19	30935048	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	9214530	30935048	28193935	37	23027											
SPTBN4	57731	broad.mit.edu	37	chr19	40998962	40998962	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcagatgaagacagctggGtaagcacccccaccaccttc	11	7	9	14	0	1	3	1	1	0	2	2	3	1	3	4	1	2	3	4	1	2	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr19:40998962G>A	ENST00000352632.3	+	5	673		c.e5+1		SPTBN4_ENST00000598249.1_Splice_Site|SPTBN4_ENST00000338932.3_Splice_Site|SPTBN4_ENST00000595535.1_Splice_Site|SPTBN4_ENST00000344104.3_Splice_Site			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4						actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGACAGCTGGGTAAGCACCCC	0.522													A	40998962	G	A	40998962	5	1	353	1	0	0	0	0	0	0	1	0	15217	1275	44	2	602	2	SPTBN4	19	40998962	Splice_Site	SNP	G	TCGA-DU-5847-01A-11D-1705-08	10063914	40998962	18130021	38	23028											
UCKL1	54963	broad.mit.edu	37	chr20	62577859	62577859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcattgtaccagggcggcCgcccggcggtgtagatggta	6	9	16	10	4	1	1	1	0	0	1	1	1	1	1	3	5	1	4	3	5	3	5			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chr20:62577859C>T	ENST00000369908.5	-	2	505	c.206G>A	c.(205-207)cGg>cAg	p.R69Q	UCKL1_ENST00000358711.3_Missense_Mutation_p.R84Q|UCKL1_ENST00000354216.6_Missense_Mutation_p.R84Q|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000369892.3_Missense_Mutation_p.R84Q	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	84					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAGGGCGGCCGCCCGGCGGT	0.677													T	62577859	C	T	62577859	3	4	353	1	0	0	0	0	1	0	0	0	17027	652	23	1	1451	1	UCKL1	20	62577859	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		62577859	447661	39	23029											
CXorf22	170063	broad.mit.edu	37	chrX	35985795	35985795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaaagacttggcaaaaCgcaagaattatgcacctgta	15	9	9	8	1	1	2	1	0	0	2	1	2	1	2	1	2	2	4	1	2	7	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:35985795C>T	ENST00000297866.5	+	10	1726	c.1660C>T	c.(1660-1662)Cgc>Tgc	p.R554C		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	554										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						CTTGGCAAAACGCAAGAATTA	0.393													T	35985795	C	T	35985795	3	4	353	1	0	0	0	0	1	0	0	0	4135	536	19	1	1698	1	CXorf22	23	35985795	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08		35985795	119284765	40	23030											
APEX2	27301	broad.mit.edu	37	chrX	55033526	55033526	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcccctagctgtccccaAgcctctcctgacatagagct	7	9	6	19	0	1	2	0	1	1	1	4	2	3	2	7	0	3	2	7	0	3	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:55033526A>T	ENST00000374987.3	+	6	1281	c.1215A>T	c.(1213-1215)caA>caT	p.Q405H		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	405					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GCTGTCCCCAAGCCTCTCCTG	0.587								Other BER factors					T	55033526	A	T	55033526	3	4	353	1	0	0	0	0	1	0	0	0	772	69	3	5	1237	5	APEX2	23	55033526	Missense_Mutation	SNP	A	TCGA-DU-5847-01A-11D-1705-08	19047731	55033526	100237034	41	23031											
OPHN1	4983	broad.mit.edu	37	chrX	67283790	67283790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcatgggtccattggtGgcctttggggtgatcttggt	3	14	16	8	0	1	1	0	1	1	0	2	1	2	1	3	7	0	1	3	7	0	3			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:67283790G>T	ENST00000355520.5	-	21	2705	c.2064C>A	c.(2062-2064)gcC>gcA	p.A688A	OPHN1_ENST00000484842.1_5'UTR|OPHN1_ENST00000540071.1_Intron	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	688	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GTCCATTGGTGGCCTTTGGGG	0.607													T	67283790	G	T	67283790	2	4	353	1	0	0	0	0	0	0	0	1	10951	1335	47	4		4	OPHN1	23	67283790	Silent	SNP	G	TCGA-DU-5847-01A-11D-1705-08	12250264	67283790	87986770	42	23032											
ACSL4	2182	broad.mit.edu	37	chrX	108921235	108921235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggtcagagagtgtaagCggagaagaatatccaatcct	14	8	11	8	1	1	3	1	0	0	3	3	5	3	3	3	2	1	1	3	2	5	2			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:108921235C>T	ENST00000340800.2	-	9	1539	c.1035G>A	c.(1033-1035)ccG>ccA	p.P345P	ACSL4_ENST00000348502.6_Silent_p.P304P|ACSL4_ENST00000469796.2_Silent_p.P345P	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	345					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	p.P345P(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	AGAGTGTAAGCGGAGAAGAAT	0.428													T	108921235	C	T	108921235	2	4	353	1	0	0	0	0	0	0	0	1	179	755	27	1		1	ACSL4	23	108921235	Silent	SNP	C	TCGA-DU-5847-01A-11D-1705-08	41637445	108921235	46349325	43	23033											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685930	125685930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacttgtccgggtccatcCgccacagcgccacagtgccg	7	6	11	17	5	0	0	0	0	0	0	3	1	3	0	6	1	3	0	6	1	1	1			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:125685930C>T	ENST00000371126.1	-	1	904	c.662G>A	c.(661-663)cGg>cAg	p.R221Q		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	221										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGGGTCCATCCGCCACAGCGC	0.657													T	125685930	C	T	125685930	3	4	353	1	0	0	0	0	1	0	0	0	4298	652	23	1	733	1	DCAF12L1	23	125685930	Missense_Mutation	SNP	C	TCGA-DU-5847-01A-11D-1705-08	16764695	125685930	29584630	44	23034											
CXorf40B	541578	broad.mit.edu	37	chrX	149100914	149100914	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggtcagtgcagcttgatTttctagttccacaacctcat	8	15	8	10	0	3	1	2	1	1	0	4	1	4	1	2	1	3	4	2	1	2	6			TCGA-DU-5847-01A-11D-1705-08	TCGA-DU-5847-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c5a5c729-4bff-4787-a56b-f541ec22c7e9	c448c220-5f1b-423f-8d89-098662d2fed1	g.chrX:149100914T>A	ENST00000370406.3	-	5	1153	c.325A>T	c.(325-327)Aat>Tat	p.N109Y	CXorf40B_ENST00000462691.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000370404.1_Missense_Mutation_p.N109Y|CXorf40B_ENST00000355203.2_Missense_Mutation_p.N109Y			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	109										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTTGATTTTCTAGTTCC	0.473													A	149100914	T	A	149100914	3	1	353	1	0	0	0	0	1	0	0	0	4142	1841	64	5	155	5	CXorf40B	23	149100914	Missense_Mutation	SNP	T	TCGA-DU-5847-01A-11D-1705-08	23414984	149100914	6169646	45	23035											
FUBP1	8880	broad.mit.edu	37	chr1	78444686	78444686	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgttgaatagtctgcCatggttgcactataagagcc	10	11	11	9	0	1	2	0	1	1	1	1	2	1	2	2	2	3	4	2	2	4	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:78444686C>A	ENST00000370767.1	-	1	90	c.3G>T	c.(1-3)atG>atT	p.M1I	FUBP1_ENST00000436586.2_Start_Codon_SNP_p.M1I|FUBP1_ENST00000370768.2_Start_Codon_SNP_p.M1I			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	1					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATAGTCTGCCATGGTTGCAC	0.542			"F, N"		oligodendroglioma								A	78444686	C	A	78444686	1	1	354	1	0	0	0	0	0	0	0	0	6144	594	21	4		4	FUBP1	1	78444686	Translation_Start_Site	SNP	C	TCGA-DU-5849-01A-11D-1705-08		78444686	170805935	1	23036											
COPA	1314	broad.mit.edu	37	chr1	160268752	160268752	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaataatagactggccaacTagtttggcattcctcaccat	12	11	7	11	0	1	1	1	0	0	1	2	1	2	1	3	2	1	3	3	2	5	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr1:160268752T>C	ENST00000241704.7	-	19	2089	c.1860A>G	c.(1858-1860)ctA>ctG	p.L620L	COPA_ENST00000368069.3_Silent_p.L629L	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	620					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGGCCAACTAGTTTGGCAT	0.443													C	160268752	T	C	160268752	2	2	354	1	0	0	0	0	0	0	0	1	3758	1509	53	3		3	COPA	1	160268752	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08	81824066	160268752	88981869	2	23037											
VRK2	7444	broad.mit.edu	37	chr2	58311264	58311264	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaaagatgcaagacatgtAgtaaaagtggtaagtgttgc	16	9	13	3	0	0	3	0	0	0	3	0	4	0	3	0	1	2	5	0	1	6	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:58311264A>G	ENST00000435505.2	+	6	922	c.177A>G	c.(175-177)gtA>gtG	p.V59V	VRK2_ENST00000440705.2_Silent_p.V36V|VRK2_ENST00000417641.2_Silent_p.V59V|VRK2_ENST00000412104.2_Silent_p.V59V|VRK2_ENST00000340157.4_Silent_p.V59V			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	59	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						CAAGACATGTAGTAAAAGTGG	0.308													G	58311264	A	G	58311264	2	3	354	1	0	0	0	0	0	0	0	1	17322	407	15	3		3	VRK2	2	58311264	Silent	SNP	A	TCGA-DU-5849-01A-11D-1705-08		58311264	184888109	3	23038											
SLC20A1	6574	broad.mit.edu	37	chr2	113416617	113416617	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagctccagagagagagAggcttcccagcgtggacttg	11	6	15	9	1	0	3	0	0	0	3	2	7	2	5	2	3	2	2	2	3	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:113416617A>G	ENST00000272542.3	+	7	1533	c.994A>G	c.(994-996)Agg>Ggg	p.R332G	SLC20A1_ENST00000480984.1_3'UTR	NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	332					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						AGAGAGAGAGAGGCTTCCCAG	0.517													G	113416617	A	G	113416617	3	3	354	1	0	0	0	0	1	0	0	0	14532	295	11	3	1016	3	SLC20A1	2	113416617	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08	55105353	113416617	129782756	4	23039											
GLI2	2736	broad.mit.edu	37	chr2	121684944	121684944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccctctgcagtgccgcaGcatctcttgccaccattcca	6	10	6	19	1	2	0	0	0	2	0	5	0	4	0	6	0	4	3	6	0	0	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr2:121684944G>A	ENST00000452319.1	+	3	216	c.156G>A	c.(154-156)caG>caA	p.Q52Q	GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.Q52Q|GLI2_ENST00000435313.2_3'UTR			P10070	GLI2_HUMAN	GLI family zinc finger 2	52					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				CAGTGCCGCAGCATCTCTTGC	0.502													A	121684944	G	A	121684944	2	1	354	1	0	0	0	0	0	0	0	1	6494	962	34	2		2	GLI2	2	121684944	Silent	SNP	G	TCGA-DU-5849-01A-11D-1705-08	8268327	121684944	121514429	5	23040											
PBRM1	55193	broad.mit.edu	37	chr3	52643532	52643532	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctgatgactcatgacTgacacaaaaagattgtggat	14	11	8	8	0	2	5	2	4	0	1	3	6	3	6	1	1	0	0	1	1	2	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:52643532T>A	ENST00000356770.4	-	15	2270	c.2268A>T	c.(2266-2268)tcA>tcT	p.S756S	PBRM1_ENST00000296302.7_Silent_p.S788S|PBRM1_ENST00000394830.3_Silent_p.S788S|PBRM1_ENST00000409114.3_Silent_p.S803S|PBRM1_ENST00000409057.1_Silent_p.S788S|PBRM1_ENST00000409767.1_Silent_p.S803S|PBRM1_ENST00000410007.1_Silent_p.S788S|PBRM1_ENST00000337303.4_Silent_p.S788S			Q86U86	PB1_HUMAN	polybromo 1	788					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GACTCATGACTGACACAAAAA	0.453			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52643532	T	A	52643532	2	1	354	1	0	0	0	0	0	0	0	1	11567	1567	55	5		5	PBRM1	3	52643532	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08		52643532	145378898	6	23041											
ZBTB20	26137	broad.mit.edu	37	chr3	114070194	114070194	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcacgcgtagagtgccgagTagatcctgtccacgctgtgc	8	8	13	12	4	0	2	0	0	0	2	2	3	2	2	3	0	3	4	3	0	2	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:114070194T>C	ENST00000462705.1	-	11	1333	c.512A>G	c.(511-513)tAc>tGc	p.Y171C	ZBTB20_ENST00000471418.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000481632.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000464560.1_Missense_Mutation_p.Y171C|ZBTB20_ENST00000474710.1_Missense_Mutation_p.Y244C|ZBTB20_ENST00000357258.3_Missense_Mutation_p.Y171C|ZBTB20_ENST00000393785.2_Missense_Mutation_p.Y171C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCGAGTAGATCCTGTC	0.667													C	114070194	T	C	114070194	3	2	354	1	0	0	0	0	1	0	0	0	17630	1638	57	3	1502	3	ZBTB20	3	114070194	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08	61426662	114070194	83952236	7	23042											
KY	339855	broad.mit.edu	37	chr3	134369693	134369693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgcagcagcgagctcGggttcgcctgctggtctgag	4	8	16	13	5	1	1	0	1	1	0	3	2	1	1	1	2	5	6	1	2	0	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:134369693G>A	ENST00000508956.1	-	1	167	c.110C>T	c.(109-111)cCg>cTg	p.P37L	KY_ENST00000423778.2_Missense_Mutation_p.P37L|KY_ENST00000503669.1_Missense_Mutation_p.P37L			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	37						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						CAGCGAGCTCGGGTTCGCCTG	0.682													A	134369693	G	A	134369693	3	1	354	1	0	0	0	0	1	0	0	0	8645	1116	39	1	1919	1	KY	3	134369693	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	20299499	134369693	63652737	8	23043											
SERPINI1	5274	broad.mit.edu	37	chr3	167508323	167508323	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatgcagcagtaaatcaTgtggacttcagtcaaaatgt	14	13	8	6	0	3	0	3	0	0	0	3	1	3	1	0	1	2	3	0	1	5	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr3:167508323T>C	ENST00000295777.5	+	3	845	c.414T>C	c.(412-414)caT>caC	p.H138H	SERPINI1_ENST00000446050.2_Silent_p.H138H	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	138					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAGTAAATCATGTGGACTTCA	0.363													C	167508323	T	C	167508323	2	2	354	1	0	0	0	0	0	0	0	1	14211	1461	51	3		3	SERPINI1	3	167508323	Silent	SNP	T	TCGA-DU-5849-01A-11D-1705-08	33138630	167508323	30514107	9	23044											
FAM193A	8603	broad.mit.edu	37	chr4	2702268	2702268	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacagagtcaacaattcaAttggtaaatacagaatagcg	18	8	9	6	1	2	3	2	0	0	3	2	4	2	3	0	1	3	1	0	1	8	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:2702268A>G	ENST00000324666.5	+	17	3847	c.3496A>G	c.(3496-3498)Att>Gtt	p.I1166V	FAM193A_ENST00000505311.1_Missense_Mutation_p.I1166V|FAM193A_ENST00000545951.1_Missense_Mutation_p.I1166V|FAM193A_ENST00000382839.3_Missense_Mutation_p.I1166V|FAM193A_ENST00000502458.1_Missense_Mutation_p.I1188V	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	1166										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						CAACAATTCAATTGGTAAATA	0.458													G	2702268	A	G	2702268	3	3	354	1	0	0	0	0	1	0	0	0	5571	101	4	3	3554	3	FAM193A	4	2702268	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08		2702268	188452008	10	23045											
LPHN3	23284	broad.mit.edu	37	chr4	62453140	62453140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttatctgccagatgcctAtaagattatgtctcaaaggt	12	14	8	7	0	2	2	1	0	2	2	3	2	2	2	2	1	2	1	2	1	5	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:62453140A>G	ENST00000512091.2	+	4	998	c.251A>G	c.(250-252)tAt>tGt	p.Y84C	LPHN3_ENST00000514591.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000507164.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514157.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000511324.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000508693.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000504896.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506700.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000508946.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506720.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000507625.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000545650.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000509896.1_Missense_Mutation_p.Y152C|LPHN3_ENST00000514996.1_Missense_Mutation_p.Y84C|LPHN3_ENST00000506746.1_Missense_Mutation_p.Y152C			Q9HAR2	LPHN3_HUMAN	latrophilin 3		SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGATGCCTATAAGATTATG	0.363													G	62453140	A	G	62453140	3	3	354	1	0	0	0	0	1	0	0	0	8987	449	16	3	257	3	LPHN3	4	62453140	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08	59750872	62453140	128701136	11	23046											
ART3	419	broad.mit.edu	37	chr4	77018807	77018807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttcaggactaaaaacCgaaaactgtattgagaacct	15	11	8	7	1	1	1	1	1	0	1	1	4	1	2	2	1	3	2	2	1	7	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:77018807C>T	ENST00000355810.4	+	4	911	c.792C>T	c.(790-792)acC>acT	p.T264T	ART3_ENST00000349321.3_Silent_p.T264T|ART3_ENST00000341029.5_Silent_p.T264T|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	264					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GACTAAAAACCGAAAACTGTA	0.328													T	77018807	C	T	77018807	2	4	354	1	0	0	0	0	0	0	0	1	1003	639	23	1		1	ART3	4	77018807	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	14565667	77018807	114135469	12	23047											
MTNR1A	4543	broad.mit.edu	37	chr4	187455100	187455100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctaggcaccatgctggCggggtcagaggccacggcca	8	5	15	13	2	1	1	1	0	0	1	2	2	2	1	4	6	1	2	4	6	1	1	rs148793802		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr4:187455100C>T	ENST00000307161.5	-	2	997	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	266					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	ACCATGCTGGCGGGGTCAGAG	0.507													T	187455100	C	T	187455100	3	4	354	1	0	0	0	0	1	0	0	0	10027	768	27	1	260	1	MTNR1A	4	187455100	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	110436293	187455100	3699176	13	23048											
DNAH5	1767	broad.mit.edu	37	chr5	13736040	13736040	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctgccccgcgtagcCactggaagacaaagagcaag	13	4	13	11	2	0	2	0	0	0	2	0	4	0	4	3	2	4	3	3	2	4	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:13736040C>G	ENST00000265104.4	-	67	11561	c.11457G>C	c.(11455-11457)gtG>gtC	p.V3819V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3819					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CCCGCGTAGCCACTGGAAGAC	0.443									Kartagener syndrome				G	13736040	C	G	13736040	5	3	354	1	0	0	0	0	0	0	1	0	4643	608	21	4	2469	4	DNAH5	5	13736040	Splice_Site	SNP	C	TCGA-DU-5849-01A-11D-1705-08		13736040	167179220	14	23049											
PCDHB2	56133	broad.mit.edu	37	chr5	140474488	140474488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggcactattcagtggcCgaggaaacggagagtggctc	10	7	14	10	2	1	1	1	0	0	1	2	4	1	2	2	5	1	2	2	5	3	3	rs142513918	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:140474488C>T	ENST00000194155.4	+	1	262	c.114C>T	c.(112-114)gcC>gcT	p.A38A		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		38	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCAGTGGCCGAGGAAACGG	0.532													T	140474488	C	T	140474488	2	4	354	1	0	0	0	0	0	0	0	1	11618	639	23	1		1	PCDHB2	5	140474488	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	126738448	140474488	40440772	15	23050											
RELL2	285613	broad.mit.edu	37	chr5	141019513	141019513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgacacacattgagaagcGctatggactgcacgaacacc	13	6	11	11	2	0	2	0	2	0	1	0	5	0	3	1	2	3	2	1	2	3	2	rs143590565	byFrequency	TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr5:141019513G>C	ENST00000297164.3	+	5	1730	c.530G>C	c.(529-531)cGc>cCc	p.R177P	RELL2_ENST00000521367.1_Missense_Mutation_p.R111P|FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000435817.2_3'UTR|RELL2_ENST00000518856.1_Missense_Mutation_p.R111P|RELL2_ENST00000444782.1_Missense_Mutation_p.R177P|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	177						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGAGAAGCGCTATGGACTG	0.647													C	141019513	G	C	141019513	3	2	354	1	0	0	0	0	1	0	0	0	13307	1087	38	4	548	4	RELL2	5	141019513	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	545025	141019513	39895747	16	23051											
TNXB	7148	broad.mit.edu	37	chr6	32030161	32030161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgagggagtcaggggtcGcatctgtcacggtcagctcc	6	8	16	11	2	4	1	3	1	1	0	6	2	5	2	1	5	1	3	1	5	0	0			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:32030161G>A	ENST00000375244.3	-	20	7142	c.6941C>T	c.(6940-6942)gCg>gTg	p.A2314V	TNXB_ENST00000375247.2_Missense_Mutation_p.A2314V			P22105	TENX_HUMAN	tenascin XB	2376	Fibronectin type-III 15.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GTCAGGGGTCGCATCTGTCAC	0.612													A	32030161	G	A	32030161	3	1	354	1	0	0	0	0	1	0	0	0	16446	1087	38	1	7872	1	TNXB	6	32030161	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		32030161	139084906	17	23052											
IMPG1	3617	broad.mit.edu	37	chr6	76657112	76657112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaatcctccaagacccCgtgcacagccttggtgaggt	11	7	10	13	2	0	2	0	1	0	1	2	3	2	2	5	2	2	1	5	2	3	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr6:76657112C>T	ENST00000369950.3	-	14	2152	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	655	SEA 2.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCCAAGACCCCGTGCACAGCC	0.448													T	76657112	C	T	76657112	3	4	354	1	0	0	0	0	1	0	0	0	7786	652	23	1	446	1	IMPG1	6	76657112	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	44626951	76657112	94457955	18	23053											
GIMAP5	55340	broad.mit.edu	37	chr7	150439615	150439615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactgctcaggacacagtgGccatcaggaaggtgaaagag	13	6	13	9	0	3	2	3	1	0	1	3	4	3	4	1	4	1	1	1	4	2	0			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr7:150439615G>A	ENST00000358647.3	+	3	755	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACACAGTGGCCATCAGGAA	0.592													A	150439615	G	A	150439615	3	1	354	1	0	0	0	0	1	0	0	0	6438	1203	42	2	394	2	GIMAP5	7	150439615	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		150439615	8699048	19	23054											
PRKDC	5591	broad.mit.edu	37	chr8	48744441	48744441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttctcctggtccctCataaaccgtctgcgcagtcg	6	11	9	15	3	3	1	1	1	2	0	6	1	4	1	3	1	3	2	3	1	2	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:48744441C>A	ENST00000314191.2	-	61	8252	c.8196G>T	c.(8194-8196)atG>atT	p.M2732I	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.M2732I	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2733	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CCTGGTCCCTCATAAACCGTC	0.542								Non-homologous end-joining					A	48744441	C	A	48744441	3	1	354	1	0	0	0	0	1	0	0	0	12607	826	29	4	4295	4	PRKDC	8	48744441	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		48744441	97619581	20	23055											
EPPK1	83481	broad.mit.edu	37	chr8	144945366	144945366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtagccagtgacagcgcGctcagccgacagcagcttcg	9	6	13	13	4	1	1	1	1	0	0	2	2	1	1	2	0	5	4	2	0	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr8:144945366G>A	ENST00000525985.1	-	2	2127	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C				P58107	EPIPL_HUMAN	epiplakin 1	686						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GTGACAGCGCGCTCAGCCGAC	0.617													A	144945366	G	A	144945366	3	1	354	1	0	0	0	0	1	0	0	0	5231	1087	38	1	5210	1	EPPK1	8	144945366	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	96200925	144945366	1418656	21	23056											
SMC2	10592	broad.mit.edu	37	chr9	106860785	106860785	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtcaatgccaacaacaccaGagtacaggatctcttctgtt	13	10	7	11	0	3	1	1	0	2	1	4	2	3	2	2	1	4	2	2	1	4	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr9:106860785G>C	ENST00000286398.7	+	4	665	c.377G>C	c.(376-378)aGa>aCa	p.R126T	SMC2_ENST00000303219.8_Missense_Mutation_p.R126T|SMC2_ENST00000374793.3_Missense_Mutation_p.R126T|SMC2_ENST00000374787.3_Missense_Mutation_p.R126T	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	126					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						AACAACACCAGAGTACAGGAT	0.338													C	106860785	G	C	106860785	3	2	354	1	0	0	0	0	1	0	0	0	14877	942	33	4	387	4	SMC2	9	106860785	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		106860785	34352646	22	23057											
CUBN	8029	broad.mit.edu	37	chr10	16877063	16877063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgatgccaagtgaatGaaaaaagagggaaatggtgt	15	9	13	4	1	1	3	0	2	1	1	2	5	1	4	1	2	1	1	1	2	6	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:16877063G>T	ENST00000377833.4	-	64	10377	c.10312C>A	c.(10312-10314)Cat>Aat	p.H3438N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3438	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CCAAGTGAATGAAAAAAGAGG	0.428													T	16877063	G	T	16877063	3	4	354	1	0	0	0	0	1	0	0	0	4084	1290	45	4	575	4	CUBN	10	16877063	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		16877063	118657684	23	23058											
PCDH15	65217	broad.mit.edu	37	chr10	55569195	55569195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattctggctctcttccatgTtgtgtatgtaggctcagctg	5	17	10	9	0	3	0	1	0	2	0	5	0	4	0	1	2	1	6	1	2	3	6			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr10:55569195T>C	ENST00000395445.1	-	36	5009	c.4615A>G	c.(4615-4617)Aca>Gca	p.T1539A	PCDH15_ENST00000395442.1_Missense_Mutation_p.T404A|PCDH15_ENST00000395440.1_Missense_Mutation_p.T473A|PCDH15_ENST00000409834.1_3'UTR|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron|PCDH15_ENST00000395438.1_3'UTR|PCDH15_ENST00000395446.1_Missense_Mutation_p.T735A	NM_001142769.1	NP_001136241.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	0					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				CTCTTCCATGTTGTGTATGTA	0.403										HNSCC(58;0.16)			C	55569195	T	C	55569195	3	2	354	1	0	0	0	0	1	0	0	0	11587	1725	60	3	1301	3	PCDH15	10	55569195	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08	38692132	55569195	79965552	24	23059											
LETMD1	25875	broad.mit.edu	37	chr12	51450230	51450230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgtgattcaccaactggAcaaggctttggcaaagctgg	12	9	11	9	0	1	1	1	1	0	0	1	2	1	2	1	4	3	3	1	4	4	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:51450230A>G	ENST00000418425.2	+	7	918	c.899A>G	c.(898-900)gAc>gGc	p.D300G	LETMD1_ENST00000548516.1_3'UTR|LETMD1_ENST00000550929.1_Missense_Mutation_p.D231G|LETMD1_ENST00000552739.1_Missense_Mutation_p.D170G|LETMD1_ENST00000262055.4_Missense_Mutation_p.D287G|LETMD1_ENST00000380123.2_3'UTR|LETMD1_ENST00000547008.1_Missense_Mutation_p.D163G	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	287	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						CACCAACTGGACAAGGCTTTG	0.498													G	51450230	A	G	51450230	3	3	354	1	0	0	0	0	1	0	0	0	8795	275	10	3	886	3	LETMD1	12	51450230	Missense_Mutation	SNP	A	TCGA-DU-5849-01A-11D-1705-08		51450230	82401665	25	23060											
LEMD3	23592	broad.mit.edu	37	chr12	65639990	65639990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actagatagataccaccatcGctttccccaggctctcactt	10	11	5	15	1	1	2	1	0	1	2	4	2	2	2	4	1	1	2	4	1	3	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:65639990G>A	ENST00000308330.2	+	13	2647	c.2621G>A	c.(2620-2622)cGc>cAc	p.R874H		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	874	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACCACCATCGCTTTCCCCAG	0.358													A	65639990	G	A	65639990	3	1	354	1	0	0	0	0	1	0	0	0	8780	1087	38	1	2671	1	LEMD3	12	65639990	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	14189760	65639990	68211905	26	23061											
HAL	3034	broad.mit.edu	37	chr12	96389484	96389484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctagggccacctcgagccGgtcctcgttgtccagcaggc	5	8	12	16	3	1	0	0	0	1	0	5	1	3	0	5	3	2	2	5	3	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr12:96389484G>A	ENST00000261208.3	-	2	573	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	HAL_ENST00000538703.1_Missense_Mutation_p.R69W|HAL_ENST00000541929.1_5'UTR	NM_002108.3	NP_002099.1	P42357	HUTH_HUMAN	histidine ammonia-lyase	69					biosynthetic process|histidine catabolic process	cytosol	histidine ammonia-lyase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	34					L-Histidine(DB00117)	ACCTCGAGCCGGTCCTCGTTG	0.612													A	96389484	G	A	96389484	3	1	354	1	0	0	0	0	1	0	0	0	7002	1115	39	1	1848	1	HAL	12	96389484	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	30749494	96389484	37462411	27	23062											
TPM1	7168	broad.mit.edu	37	chr15	63354774	63354774	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcaaataaatcattacaGgctgagactcgggctgagtt	14	10	9	8	1	2	2	2	2	0	1	3	3	2	2	0	2	2	3	0	2	5	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:63354774G>A	ENST00000357980.4	+	9	907		c.e9-1		TPM1_ENST00000560445.1_Intron|TPM1_ENST00000317516.7_Splice_Site|TPM1_ENST00000559397.1_Splice_Site|TPM1_ENST00000404484.4_Splice_Site|TPM1_ENST00000334895.5_Splice_Site|TPM1_ENST00000403994.3_Splice_Site|TPM1_ENST00000358278.3_Splice_Site|TPM1_ENST00000267996.7_Splice_Site|TPM1_ENST00000560959.1_Splice_Site|TPM1_ENST00000288398.6_Splice_Site|TPM1_ENST00000559556.1_Splice_Site|TPM1_ENST00000559281.1_Splice_Site			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)						cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AATCATTACAGGCTGAGACTC	0.358													A	63354774	G	A	63354774	5	1	354	1	0	0	0	0	0	0	1	0	16506	1014	35	2	1078	2	TPM1	15	63354774	Splice_Site	SNP	G	TCGA-DU-5849-01A-11D-1705-08		63354774	39176618	28	23063											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	354	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	27277064	90631838	11899554	29	23064											
CACNG3	10368	broad.mit.edu	37	chr16	24372780	24372780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggttggtccttttatttcGgagccttctctttcatcatc	5	19	7	10	1	3	0	2	0	1	0	7	1	4	1	2	3	1	1	2	3	1	6			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:24372780G>A	ENST00000005284.3	+	4	1746	c.544G>A	c.(544-546)Gga>Aga	p.G182R		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	182					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)		CTTTTATTTCGGAGCCTTCTC	0.453													A	24372780	G	A	24372780	3	1	354	1	0	0	0	0	1	0	0	0	2584	1117	39	1	558	1	CACNG3	16	24372780	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		24372780	65981973	30	23065											
CNOT1	23019	broad.mit.edu	37	chr16	58565875	58565875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccacaccttctgctgtggcGtatgtgccagcattcttgca	6	12	10	13	1	2	0	0	0	2	0	2	0	2	0	3	1	4	4	3	1	1	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr16:58565875G>A	ENST00000317147.5	-	42	6496	c.6164C>T	c.(6163-6165)aCg>aTg	p.T2055M	CNOT1_ENST00000569240.1_Missense_Mutation_p.T2050M|CNOT1_ENST00000245138.4_Missense_Mutation_p.T906M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2055					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGCTGTGGCGTATGTGCCAG	0.423													A	58565875	G	A	58565875	3	1	354	1	0	0	0	0	1	0	0	0	3648	1145	40	1	998	1	CNOT1	16	58565875	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	34193095	58565875	31788878	31	23066											
PER1	5187	broad.mit.edu	37	chr17	8054005	8054005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcccctcccccatcagccCcttctagggggccactcatg	5	8	9	19	0	3	0	2	0	1	0	5	0	5	0	7	3	1	0	7	3	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:8054005C>T	ENST00000317276.4	-	2	257	c.20G>A	c.(19-21)gGg>gAg	p.G7E	PER1_ENST00000354903.5_Intron|PER1_ENST00000581082.1_Missense_Mutation_p.G7E	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	7					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCATCAGCCCCTTCTAGGGG	0.677			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					T	8054005	C	T	8054005	3	4	354	1	0	0	0	0	1	0	0	0	11805	623	22	2	3940	2	PER1	17	8054005	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		8054005	73141205	32	23067											
TRPV2	51393	broad.mit.edu	37	chr17	16336965	16336965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggtgtgatgctgacCgttggcactaagccagatgg	8	8	16	9	2	0	3	0	2	0	1	0	3	0	3	2	4	2	4	2	4	1	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr17:16336965C>T	ENST00000338560.7	+	13	2466	c.2067C>T	c.(2065-2067)acC>acT	p.T689T	TRPV2_ENST00000577397.1_Silent_p.T259T	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	689					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TGATGCTGACCGTTGGCACTA	0.587													T	16336965	C	T	16336965	2	4	354	1	0	0	0	0	0	0	0	1	16697	639	23	1		1	TRPV2	17	16336965	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	8282960	16336965	64858245	33	23068											
HDHD2	84064	broad.mit.edu	37	chr18	44656634	44656634	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggaatgcttgattcagaaTttgataatgaaaatgttctg	13	14	9	5	1	2	4	1	3	1	1	2	5	2	5	1	1	1	2	1	1	5	5			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr18:44656634T>G	ENST00000300605.6	-	4	528	c.376A>C	c.(376-378)Att>Ctt	p.I126L	HDHD2_ENST00000587841.1_Intron	NM_032124.4	NP_115500.1	Q9H0R4	HDHD2_HUMAN	haloacid dehalogenase-like hydrolase domain containing 2	126							hydrolase activity			kidney(2)|large_intestine(2)|lung(1)|skin(1)	6						TGATTCAGAATTTGATAATGA	0.353													G	44656634	T	G	44656634	3	3	354	1	0	0	0	0	1	0	0	0	7078	1493	52	5	419	5	HDHD2	18	44656634	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08		44656634	33420614	34	23069											
TICAM1	148022	broad.mit.edu	37	chr19	4817206	4817206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggaggatcacaaagttaTagaatttctgttccgatgat	12	13	10	6	2	2	2	1	1	1	1	3	5	3	4	1	2	0	2	1	2	4	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:4817206T>C	ENST00000248244.5	-	2	1413	c.1184A>G	c.(1183-1185)tAt>tGt	p.Y395C		NM_182919.3	NP_891549.1	Q8IUC6	TCAM1_HUMAN	toll-like receptor adaptor molecule 1	395	TIR.				apoptosis|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|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|endosome membrane|plasma membrane	protein kinase binding|signal transducer activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CACAAAGTTATAGAATTTCTG	0.592													C	4817206	T	C	4817206	3	2	354	1	0	0	0	0	1	0	0	0	15992	1406	49	3	958	3	TICAM1	19	4817206	Missense_Mutation	SNP	T	TCGA-DU-5849-01A-11D-1705-08		4817206	54311777	35	23070											
OR10H5	284433	broad.mit.edu	37	chr19	15905003	15905003	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcatcatggccactGtctggagcgagcgcagcctc	7	8	11	15	2	3	0	2	0	1	0	4	2	3	1	3	2	4	2	3	2	0	0			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:15905003G>C	ENST00000308940.8	+	1	243	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATGGCCACTGTCTGGAGCGA	0.597													C	15905003	G	C	15905003	3	2	354	1	0	0	0	0	1	0	0	0	10985	1377	48	4	147	4	OR10H5	19	15905003	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08	11087797	15905003	43223980	36	23071											
DDA1	79016	broad.mit.edu	37	chr19	17425150	17425150	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaaccctcctgcagaacCgacggccctcagtctacctg	8	8	7	18	2	3	1	2	0	2	1	5	2	4	1	5	1	4	1	5	1	3	1			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:17425150C>T	ENST00000359866.4	+	3	212	c.88C>T	c.(88-90)Cga>Tga	p.R30*		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	30										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGCAGAACCGACGGCCCTC	0.607													T	17425150	C	T	17425150	4	4	354	1	0	0	0	0	0	1	0	0	4354	644	23	1	98	1	DDA1	19	17425150	Nonsense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	1520147	17425150	41703833	37	23072											
IL12RB1	3594	broad.mit.edu	37	chr19	18191676	18191676	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtcacctcaggagaCttctctgtctggttcctggc	5	12	12	12	0	4	1	2	0	2	1	6	2	5	1	2	4	1	2	2	4	0	2			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr19:18191676C>T	ENST00000600835.2	-	5	673	c.375G>A	c.(373-375)aaG>aaA	p.K125K	IL12RB1_ENST00000593993.2_Silent_p.K125K|IL12RB1_ENST00000322153.7_Silent_p.K125K			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 1.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCTCAGGAGACTTCTCTGTCT	0.587													T	18191676	C	T	18191676	2	4	354	1	0	0	0	0	0	0	0	1	7684	564	20	2		2	IL12RB1	19	18191676	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08	766526	18191676	40937307	38	23073											
RALGAPA2	57186	broad.mit.edu	37	chr20	20616214	20616214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgtaaatgttctcattgtCtcgagtggtagtaatgtaca	11	15	9	6	1	2	0	1	0	2	0	4	1	2	0	0	1	1	5	0	1	5	6			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:20616214C>T	ENST00000202677.7	-	9	860	c.853G>A	c.(853-855)Gac>Aac	p.D285N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTCTCATTGTCTCGAGTGGTA	0.343													T	20616214	C	T	20616214	3	4	354	1	0	0	0	0	1	0	0	0	13102	913	32	2	4892	2	RALGAPA2	20	20616214	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08		20616214	42409306	39	23074											
GNAS	2778	broad.mit.edu	37	chr20	57415453	57415453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaccttgagctgtccctcCccgagtgcctagagtacgag	8	8	11	14	2	0	3	0	1	0	2	2	5	2	3	5	0	3	2	5	0	2	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr20:57415453C>A	ENST00000313949.7	+	1	681	c.292C>A	c.(292-294)Ccc>Acc	p.P98T	GNAS-AS1_ENST00000598163.1_RNA|GNAS_ENST00000371098.2_Missense_Mutation_p.P98T|GNAS-AS1_ENST00000424094.2_RNA|GNAS-AS1_ENST00000443966.1_RNA|GNAS_ENST00000371075.3_Missense_Mutation_p.P98T			P63092	GNAS2_HUMAN	GNAS complex locus	100					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCTGTCCCTCCCCGAGTGCCT	0.617			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			A	57415453	C	A	57415453	3	1	354	1	0	0	0	0	1	0	0	0	6566	623	22	4	294	4	GNAS	20	57415453	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	36799239	57415453	5610067	40	23075											
DONSON	29980	broad.mit.edu	37	chr21	34958408	34958408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtgaaaaggagtcgcGttttaatactccagtccaca	14	9	10	8	2	0	2	0	1	0	1	3	3	2	3	2	2	1	1	2	2	5	3			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:34958408G>A	ENST00000453626.1	-	3	486	c.482C>T	c.(481-483)aCg>aTg	p.T161M	DONSON_ENST00000303071.5_Missense_Mutation_p.T161M|DONSON_ENST00000303113.6_Missense_Mutation_p.T161M|AP000304.12_ENST00000429238.1_Silent_p.N122N|DONSON_ENST00000432378.1_Missense_Mutation_p.T161M			Q9NYP3	DONS_HUMAN	downstream neighbor of SON	161					multicellular organismal development	nucleus				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|ovary(1)	11						AAGGAGTCGCGTTTTAATACT	0.433											OREG0003565	type=REGULATORY REGION|Gene=DONSON|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	34958408	G	A	34958408	3	1	354	1	0	0	0	0	1	0	0	0	4745	1145	40	1	1250	1	DONSON	21	34958408	Missense_Mutation	SNP	G	TCGA-DU-5849-01A-11D-1705-08		34958408	13171487	41	23076											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117735	46117735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgtgtgcagacccgccCgccgcgtgcccgtcccctcc	2	6	11	22	5	0	1	0	0	0	1	2	1	2	1	8	0	2	1	8	0	0	0			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr21:46117735C>T	ENST00000400365.3	+	1	649	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	207	19 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(8)	9						CAGACCCGCCCGCCGCGTGCC	0.716													T	46117735	C	T	46117735	3	4	354	1	0	0	0	0	1	0	0	0	8566	652	23	1	621	1	KRTAP10-12	21	46117735	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	11159327	46117735	2012160	42	23077											
DNAJB7	150353	broad.mit.edu	37	chr22	41257198	41257198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacccaagatatacctccCtcatcattgtccacgaaagt	13	10	5	13	1	2	1	2	0	0	1	4	2	4	1	4	0	2	1	4	0	5	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chr22:41257198C>T	ENST00000307221.4	-	1	932	c.801G>A	c.(799-801)gaG>gaA	p.E267E	XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron|XPNPEP3_ENST00000357137.4_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	267					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						ATATACCTCCCTCATCATTGT	0.423													T	41257198	C	T	41257198	2	4	354	1	0	0	0	0	0	0	0	1	4664	680	24	2		2	DNAJB7	22	41257198	Silent	SNP	C	TCGA-DU-5849-01A-11D-1705-08		41257198	10047368	43	23078											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													TAT	49208296	-	TAT	49208295	7	5	354	1	0	1	1	0	0	0	0	0	6246	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-DU-5849-01A-11D-1705-08		49208295	106062265	44	23079											
NXF3	56000	broad.mit.edu	37	chrX	102338548	102338548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttacctcaactgggaCgaagggtacactgcattcat	10	12	8	11	1	3	0	2	0	1	0	3	2	3	1	1	2	4	2	1	2	4	4			TCGA-DU-5849-01A-11D-1705-08	TCGA-DU-5849-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bcde1486-c728-4841-ab69-c8cb16706fc2	189c09ae-f5aa-4b68-89d8-65eb6bc57683	g.chrX:102338548C>T	ENST00000395065.3	-	4	525	c.424G>A	c.(424-426)Gtc>Atc	p.V142I	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.V53I	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	142	RRM.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						TCAACTGGGACGAAGGGTACA	0.458													T	102338548	C	T	102338548	3	4	354	1	0	0	0	0	1	0	0	0	10861	536	19	1	1235	1	NXF3	23	102338548	Missense_Mutation	SNP	C	TCGA-DU-5849-01A-11D-1705-08	53130253	102338548	52932012	45	23080											
ADC	113451	broad.mit.edu	37	chr1	33560160	33560160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttcccagttttcacattgGcagtggctgtcctgaccctc	5	14	8	14	0	2	1	1	1	1	0	5	1	4	1	3	2	0	3	3	2	0	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:33560160G>C	ENST00000294517.6	+	8	1186	c.599G>C	c.(598-600)gGc>gCc	p.G200A	ADC_ENST00000358680.3_Intron|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.G200A|ADC_ENST00000373440.1_Intron|ADC_ENST00000373443.3_Missense_Mutation_p.G200A|ADC_ENST00000373441.1_Missense_Mutation_p.G200A	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	200					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTCACATTGGCAGTGGCTGT	0.587													C	33560160	G	C	33560160	3	2	355	1	0	0	0	0	1	0	0	0	287	1203	42	4	617	4	ADC	1	33560160	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		33560160	215690461	1	23081											
COL24A1	255631	broad.mit.edu	37	chr1	86590808	86590808	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcttgagattagtaattGtatcttgtttaatttgtgga	9	20	8	4	0	2	1	0	1	2	1	2	3	2	2	1	1	0	3	1	1	4	10			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:86590808G>T	ENST00000370571.2	-	3	1577	c.1211C>A	c.(1210-1212)aCa>aAa	p.T404K	COL24A1_ENST00000436319.1_Missense_Mutation_p.T404K	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	404					cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		ATTAGTAATTGTATCTTGTTT	0.348													T	86590808	G	T	86590808	3	4	355	1	0	0	0	0	1	0	0	0	3714	1377	48	4	4165	4	COL24A1	1	86590808	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	53030648	86590808	162659813	2	23082											
FCGR1A	2209	broad.mit.edu	37	chr1	149755784	149755784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtctctcagggcgaaGtgaccccatacagctggaaa	12	6	13	10	1	2	2	1	1	1	1	3	5	2	3	2	3	2	1	2	3	3	1			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:149755784G>A	ENST00000369168.4	+	3	332	c.278G>A	c.(277-279)aGt>aAt	p.S93N	RP11-196G18.21_ENST00000420462.1_RNA|HIST2H2BF_ENST00000545683.1_Intron	NM_000566.3	NP_000557.1	P12314	FCGR1_HUMAN	Fc fragment of IgG, high affinity Ia, receptor (CD64)	93	Ig-like C2-type 1.				interferon-gamma-mediated signaling pathway|phagocytosis, engulfment	integral to membrane|plasma membrane	IgG binding|receptor activity|receptor signaling protein activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	10	Breast(34;0.0124)|all_hematologic(923;0.127)				Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Methyl aminolevulinate(DB00992)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Porfimer(DB00707)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCAGGGCGAAGTGACCCCATA	0.547													A	149755784	G	A	149755784	3	1	355	1	0	0	0	0	1	0	0	0	5828	1029	36	2	288	2	FCGR1A	1	149755784	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	63164976	149755784	99494837	3	23083											
LY9	4063	broad.mit.edu	37	chr1	160783602	160783602	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccattcttaccgtctccCgaacaccatgtgacccagac	9	9	6	17	2	2	2	0	1	2	1	4	3	3	2	5	0	2	1	5	0	2	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:160783602C>T	ENST00000368037.5	+	3	745	c.631C>T	c.(631-633)Cga>Tga	p.R211*	LY9_ENST00000368040.1_5'UTR|LY9_ENST00000263285.6_Nonsense_Mutation_p.R211*|LY9_ENST00000471816.1_3'UTR|LY9_ENST00000341032.4_Nonsense_Mutation_p.R211*|LY9_ENST00000392203.4_Nonsense_Mutation_p.R211*|LY9_ENST00000368041.2_Nonsense_Mutation_p.R171*	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TACCGTCTCCCGAACACCATG	0.572													T	160783602	C	T	160783602	4	4	355	1	0	0	0	0	0	1	0	0	9172	644	23	1	773	1	LY9	1	160783602	Nonsense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	11027818	160783602	88467019	4	23084											
C1orf65	164127	broad.mit.edu	37	chr1	223568185	223568185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtccctggaacaaagtttCcagcggtcccaggagataca	11	8	10	12	1	0	1	0	0	0	1	3	3	3	2	3	3	3	1	3	3	3	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr1:223568185C>A	ENST00000366875.3	+	1	1471	c.1368C>A	c.(1366-1368)ttC>ttA	p.F456L		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	456										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AACAAAGTTTCCAGCGGTCCC	0.607													A	223568185	C	A	223568185	3	1	355	1	0	0	0	0	1	0	0	0	2076	854	30	4	1370	4	C1orf65	1	223568185	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	62784583	223568185	25682436	5	23085											
GFPT1	2673	broad.mit.edu	37	chr2	69554110	69554110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggatcacgctgagaatgCcctgcaagcagtccactgag	12	6	12	11	1	1	2	1	2	0	1	2	4	2	3	2	1	3	3	2	1	3	0			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:69554110C>T	ENST00000357308.4	-	19	2169	c.1991G>A	c.(1990-1992)gGc>gAc	p.G664D	GFPT1_ENST00000361060.5_Missense_Mutation_p.G646D	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	664	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GCTGAGAATGCCCTGCAAGCA	0.488													T	69554110	C	T	69554110	3	4	355	1	0	0	0	0	1	0	0	0	6401	739	26	2	116	2	GFPT1	2	69554110	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08		69554110	173645263	6	23086											
FASTKD1	79675	broad.mit.edu	37	chr2	170428527	170428527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgactctaggaaaacagGtgtttttttcatttatatca	13	16	6	6	0	3	1	2	1	1	0	3	2	3	2	0	2	1	1	0	2	6	7			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:170428527G>C	ENST00000453153.2	-	2	359	c.13C>G	c.(13-15)Cct>Gct	p.P5A	FASTKD1_ENST00000453929.2_Missense_Mutation_p.P5A	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	5					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AGGAAAACAGGTGTTTTTTTC	0.373													C	170428527	G	C	170428527	3	2	355	1	0	0	0	0	1	0	0	0	5734	1261	44	4	2586	4	FASTKD1	2	170428527	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	100874417	170428527	72770846	7	23087											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	355	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	38684585	209113112	34086261	8	23088											
IGSF10	285313	broad.mit.edu	37	chr3	151163027	151163027	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttttcagcaatttctGagtatggtttgtgccaaaat	9	17	8	7	0	2	1	1	1	1	0	2	1	2	1	2	1	3	3	2	1	4	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:151163027G>T	ENST00000282466.3	-	4	4741	c.4742C>A	c.(4741-4743)tCa>tAa	p.S1581*		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1581					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAATTTCTGAGTATGGTTT	0.438													T	151163027	G	T	151163027	4	4	355	1	0	0	0	0	0	1	0	0	7655	1294	45	4	3189	4	IGSF10	3	151163027	Nonsense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		151163027	46859403	9	23089											
NLGN1	22871	broad.mit.edu	37	chr3	173997002	173997002	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatagtagatagcgatgAtggtatatcagctagtgatt	15	13	10	3	1	1	3	1	2	0	1	1	4	1	3	0	1	2	3	0	1	8	8			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr3:173997002A>T	ENST00000457714.1	+	6	1640	c.1211A>T	c.(1210-1212)gAt>gTt	p.D404V	NLGN1_ENST00000545397.1_Missense_Mutation_p.D404V|NLGN1_ENST00000401917.3_Missense_Mutation_p.D444V|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000361589.4_Missense_Mutation_p.D404V	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	421					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			GATAGCGATGATGGTATATCA	0.328													T	173997002	A	T	173997002	3	4	355	1	0	0	0	0	1	0	0	0	10537	333	12	5	1225	5	NLGN1	3	173997002	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08	22833975	173997002	24025428	10	23090											
SLC4A4	8671	broad.mit.edu	37	chr4	72121038	72121038	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaaggaaaaggagAgaatctctgagaactactct	20	6	10	5	0	2	4	0	1	2	4	3	8	2	6	0	2	2	0	0	2	9	1			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr4:72121038A>C	ENST00000425175.1	+	3	292	c.175A>C	c.(175-177)Aga>Cga	p.R59R	SLC4A4_ENST00000351898.6_Silent_p.R59R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000264485.5_Silent_p.R59R	NM_001134742.1	NP_001128214.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	59						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GGAAAAGGAGAGAATCTCTGA	0.448													C	72121038	A	C	72121038	2	2	355	1	0	0	0	0	0	0	0	1	14750	296	11	5		5	SLC4A4	4	72121038	Silent	SNP	A	TCGA-DU-5851-01A-13D-1893-08		72121038	119033238	11	23091											
CDH12	1010	broad.mit.edu	37	chr5	21752212	21752212	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcagagccccgatgtcGaaagcctgggtatcttcctc	7	12	9	13	2	2	1	1	0	2	1	6	3	3	1	4	1	2	1	4	1	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:21752212G>A	ENST00000382254.1	-	15	3105	c.2019C>T	c.(2017-2019)ttC>ttT	p.F673F	RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000504376.2_Silent_p.F673F|CDH12_ENST00000522262.1_Silent_p.F633F|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	673					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						CCCCGATGTCGAAAGCCTGGG	0.463										HNSCC(59;0.17)			A	21752212	G	A	21752212	2	1	355	1	0	0	0	0	0	0	0	1	3128	1049	37	1		1	CDH12	5	21752212	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		21752212	159163048	12	23092											
PLCXD3	345557	broad.mit.edu	37	chr5	41381990	41381990	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accacagtgctagctttgggGgtcagcaccacctgagatat	10	9	11	11	0	1	1	1	1	0	1	1	2	1	1	3	2	3	3	3	2	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:41381990G>T	ENST00000377801.3	-	2	824	c.750C>A	c.(748-750)acC>acA	p.T250T	PLCXD3_ENST00000328457.3_Silent_p.T250T			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	250					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						TAGCTTTGGGGGTCAGCACCA	0.463													T	41381990	G	T	41381990	2	4	355	1	0	0	0	0	0	0	0	1	12120	1219	43	4		4	PLCXD3	5	41381990	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	19629778	41381990	139533270	13	23093											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349867	65349867	+	Frame_Shift_Del	DEL	A	A	-																															atcacatctgctgttgatggAaaaaatatagtcaggagcaa																										TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:65349867delA	ENST00000284037.5	+	21	3110	c.2721delA	c.(2719-2721)ggafs	p.G907fs	ERBB2IP_ENST00000506030.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380935.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000508515.1_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000380938.2_Frame_Shift_Del_p.G907fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Del_p.G903fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	907					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CTGTTGATGGAAAAAATATAG	0.378													-	65349867	A	-	65349867	7	5	355	1	0	1	0	1	0	0	0	0	5248	233	9	0	2795	0	ERBB2IP	5	65349867	Frame_Shift_Del	DEL	A	TCGA-DU-5851-01A-13D-1893-08	23967877	65349867	115565393	14	23094											
WWC1	23286	broad.mit.edu	37	chr5	167858267	167858267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctctaggaatatccgcGtggctgtccttccttgctct	4	14	8	15	2	2	0	0	0	2	0	6	1	6	1	4	2	1	2	4	2	3	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:167858267G>A	ENST00000265293.4	+	15	2600	c.2098G>A	c.(2098-2100)Gtg>Atg	p.V700M	WWC1_ENST00000521089.1_Missense_Mutation_p.V700M	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	700	C2.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAATATCCGCGTGGCTGTCCT	0.532													A	167858267	G	A	167858267	3	1	355	1	0	0	0	0	1	0	0	0	17513	1145	40	1	2156	1	WWC1	5	167858267	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	102508400	167858267	13056993	15	23095											
BTNL8	79908	broad.mit.edu	37	chr5	180338425	180338425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcgggctggttccccCggcccacagcgaagtggaaa	8	6	13	14	3	0	0	0	0	0	0	3	2	2	1	4	4	1	2	4	4	2	1			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr5:180338425C>T	ENST00000231229.4	+	3	718	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	BTNL8_ENST00000511704.1_Missense_Mutation_p.R46W|BTNL8_ENST00000400707.3_Missense_Mutation_p.R37W|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.R162W|BTNL8_ENST00000508408.1_Missense_Mutation_p.R162W|BTNL8_ENST00000533815.2_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	162	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTGGTTCCCCCGGCCCACAGC	0.527													T	180338425	C	T	180338425	3	4	355	1	0	0	0	0	1	0	0	0	1577	643	23	1	520	1	BTNL8	5	180338425	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	12480158	180338425	576835	16	23096											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056346	26056346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttcttgttgagtttaaagGagccagaagcaccggtgcct	9	11	11	10	1	1	2	0	1	1	1	1	3	1	3	4	2	3	3	4	2	3	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr6:26056346G>A	ENST00000343677.2	-	1	353	c.311C>T	c.(310-312)tCc>tTc	p.S104F		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	104	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GAGTTTAAAGGAGCCAGAAGC	0.527													A	26056346	G	A	26056346	3	1	355	1	0	0	0	0	1	0	0	0	7179	1174	41	2	334	2	HIST1H1C	6	26056346	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		26056346	145058721	17	23097											
SDK1	221935	broad.mit.edu	37	chr7	4259754	4259754	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggggtgagcaaggtGgtgaccgtggaagtgagagg	9	6	21	5	1	0	3	0	3	0	1	0	5	0	4	1	6	2	3	1	6	2	0			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4259754G>T	ENST00000404826.2	+	39	5692	c.5553G>T	c.(5551-5553)gtG>gtT	p.V1851V	SDK1_ENST00000389531.3_Silent_p.V1831V	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1851	Fibronectin type-III 12.				cell adhesion	integral to membrane		p.V1851V(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TGAGCAAGGTGGTGACCGTGG	0.567													T	4259754	G	T	4259754	2	4	355	1	0	0	0	0	0	0	0	1	14061	1335	47	4		4	SDK1	7	4259754	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		4259754	154878909	18	23098											
RADIL	55698	broad.mit.edu	37	chr7	4855893	4855893	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttgagaagcagtgtcccGgagaagaagaagaggtaggc	13	6	17	5	1	0	5	0	1	0	5	1	7	1	5	1	4	1	3	1	4	5	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:4855893G>A	ENST00000399583.3	-	8	2119	c.1932C>T	c.(1930-1932)tcC>tcT	p.S644S	RADIL_ENST00000538469.1_Silent_p.S404S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	644	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		GCAGTGTCCCGGAGAAGAAGA	0.657													A	4855893	G	A	4855893	2	1	355	1	0	0	0	0	0	0	0	1	13085	1103	39	1		1	RADIL	7	4855893	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	596139	4855893	154282770	19	23099											
NRCAM	4897	broad.mit.edu	37	chr7	107791186	107791186	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaggatgcagaagaaacAaatgaaaacagcctaagaag	23	4	9	5	0	0	4	0	1	0	3	0	5	0	5	1	1	4	1	1	1	9	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr7:107791186A>C	ENST00000379022.4	-	34	4160	c.3690T>G	c.(3688-3690)ttT>ttG	p.F1230L	NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000522550.2_5'UTR|NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000425651.2_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000379028.3_Intron			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	0					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CAGAAGAAACAAATGAAAACA	0.289													C	107791186	A	C	107791186	3	2	355	1	0	0	0	0	1	0	0	0	10720	145	5	5		5	NRCAM	7	107791186	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08	102935293	107791186	51347477	20	23100											
CNGB3	54714	broad.mit.edu	37	chr8	87683282	87683282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgtgtagctgggcatcgGcatactcatttataacagga	10	12	12	7	1	1	0	1	0	0	0	2	1	1	1	0	4	3	5	0	4	4	6			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr8:87683282G>A	ENST00000320005.5	-	4	430	c.383C>T	c.(382-384)gCc>gTc	p.A128V		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	128					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTGGGCATCGGCATACTCATT	0.453													A	87683282	G	A	87683282	3	1	355	1	0	0	0	0	1	0	0	0	3632	1203	42	2	2106	2	CNGB3	8	87683282	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		87683282	58680740	21	23101											
GLIS3	169792	broad.mit.edu	37	chr9	3828287	3828287	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcttttagccttcggtgtaGacagaggagagctggctagg	9	10	15	7	1	0	3	0	0	0	3	1	4	0	3	1	4	3	4	1	4	3	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr9:3828287G>C	ENST00000324333.10	-	10	2506	c.2313C>G	c.(2311-2313)gtC>gtG	p.V771V	GLIS3_ENST00000381971.3_Silent_p.V926V|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	771					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTTCGGTGTAGACAGAGGAGA	0.562													C	3828287	G	C	3828287	2	2	355	1	0	0	0	0	0	0	0	1	6503	929	33	4		4	GLIS3	9	3828287	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08		3828287	137385144	22	23102											
PPIF	10105	broad.mit.edu	37	chr10	81113478	81113478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggttggatggcaagcaTgttgtgttcggtcacgtcaa	9	11	13	8	2	2	0	2	0	0	0	3	1	2	1	0	4	1	5	0	4	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr10:81113478T>C	ENST00000394579.3	+	5	506	c.428T>C	c.(427-429)aTg>aCg	p.M143T	PPIF_ENST00000225174.3_Silent_p.H168H			P30405	PPIF_HUMAN	peptidylprolyl isomerase F	0	PPIase cyclophilin-type.				protein folding	membrane fraction|mitochondrial matrix	peptidyl-prolyl cis-trans isomerase activity			endometrium(2)|lung(2)|skin(2)	6	all_cancers(46;0.0893)|Breast(12;8.52e-05)|all_epithelial(25;0.00449)|Prostate(51;0.00985)		Epithelial(14;0.00242)|all cancers(16;0.0069)|Colorectal(32;0.229)		Dimethyl sulfoxide(DB01093)|L-Proline(DB00172)	ATGGCAAGCATGTTGTGTTCG	0.502													C	81113478	T	C	81113478	3	2	355	1	0	0	0	0	1	0	0	0	12405	1461	51	3	526	3	PPIF	10	81113478	Missense_Mutation	SNP	T	TCGA-DU-5851-01A-13D-1893-08		81113478	54421269	23	23103											
CTR9	9646	broad.mit.edu	37	chr11	10783517	10783517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattccattaaaaatggtgtCcagcttctttccagagccta	11	13	7	10	0	1	1	0	0	1	1	4	2	4	1	4	1	2	1	4	1	4	5			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:10783517C>T	ENST00000361367.2	+	7	1191	c.765C>T	c.(763-765)gtC>gtT	p.V255V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	255					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AAAATGGTGTCCAGCTTCTTT	0.343													T	10783517	C	T	10783517	2	4	355	1	0	0	0	0	0	0	0	1	4057	842	30	2		2	CTR9	11	10783517	Silent	SNP	C	TCGA-DU-5851-01A-13D-1893-08		10783517	124222999	24	23104											
SYTL2	54843	broad.mit.edu	37	chr11	85436182	85436182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatttagggggctacataCtggctgtactgcttcaggaa	10	11	13	7	0	1	0	1	0	0	0	1	2	1	2	0	5	4	4	0	5	5	6			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr11:85436182C>T	ENST00000359152.5	-	1	2889	c.2890G>A	c.(2890-2892)Gta>Ata	p.V964I	SYTL2_ENST00000525423.1_Missense_Mutation_p.V440I|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000316356.4_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000354566.3_Missense_Mutation_p.V440I	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	0					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GGGCTACATACTGGCTGTACT	0.463													T	85436182	C	T	85436182	3	4	355	1	0	0	0	0	1	0	0	0	15580	565	20	2	2552	2	SYTL2	11	85436182	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	74652665	85436182	49570334	25	23105											
PYGL	5836	broad.mit.edu	37	chr14	51378916	51378916	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacagttcaagagctgtcGcttgtactcatgtatcctct	9	13	8	11	1	3	2	2	0	1	2	5	2	4	2	1	0	2	5	1	0	3	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:51378916G>A	ENST00000216392.7	-	14	2058	c.1726C>T	c.(1726-1728)Cga>Tga	p.R576*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.R576*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.R542*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	576					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AAGAGCTGTCGCTTGTACTCA	0.493													A	51378916	G	A	51378916	4	1	355	1	0	0	0	0	0	1	0	0	12949	1095	38	1	845	1	PYGL	14	51378916	Nonsense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		51378916	55970624	26	23106											
SYNJ2BP	55333	broad.mit.edu	37	chr14	70842422	70842422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactctcagagacacagcatAgcctgcattacgaaagaggt	14	7	9	11	1	1	2	1	0	1	2	2	4	1	2	1	1	4	2	1	1	3	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:70842422A>G	ENST00000256366.4	-	3	349	c.268T>C	c.(268-270)Tat>Cat	p.Y90H	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		GACACAGCATAGCCTGCATTA	0.473													G	70842422	A	G	70842422	3	3	355	1	0	0	0	0	1	0	0	0	15551	420	15	3	177	3	SYNJ2BP	14	70842422	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08	19463506	70842422	36507118	27	23107											
AHNAK2	113146	broad.mit.edu	37	chr14	105413659	105413659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagtttcacatccacctggCcagcctggacctccagttgg	7	9	11	14	0	1	0	1	0	0	0	3	2	3	2	6	4	1	2	6	4	0	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr14:105413659C>T	ENST00000333244.5	-	7	8248	c.8129G>A	c.(8128-8130)gGc>gAc	p.G2710D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2710						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ATCCACCTGGCCAGCCTGGAC	0.607													T	105413659	C	T	105413659	3	4	355	1	0	0	0	0	1	0	0	0	415	739	26	2	9262	2	AHNAK2	14	105413659	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	34571237	105413659	1935881	28	23108											
GPR176	11245	broad.mit.edu	37	chr15	40093791	40093791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagctggctacccgagcGtatgctgggttccaggctgg	6	8	16	11	2	0	0	0	0	0	0	1	2	1	1	2	5	4	6	2	5	2	3			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr15:40093791G>A	ENST00000299092.3	-	4	1285	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	GPR176_ENST00000561100.1_Missense_Mutation_p.R364C|GPR176_ENST00000543580.1_Missense_Mutation_p.R319C	NM_001271854.1|NM_001271855.1	NP_001258783.1|NP_001258784.1	Q14439	GP176_HUMAN	G protein-coupled receptor 176	364					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)	23		all_cancers(109;4.05e-15)|all_epithelial(112;2.96e-13)|Lung NSC(122;8.53e-11)|all_lung(180;2.71e-09)|Melanoma(134;0.091)|Colorectal(260;0.198)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;4.4e-06)|BRCA - Breast invasive adenocarcinoma(123;0.123)		CTACCCGAGCGTATGCTGGGT	0.567													A	40093791	G	A	40093791	3	1	355	1	0	0	0	0	1	0	0	0	6727	1145	40	1	461	1	GPR176	15	40093791	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		40093791	62437601	29	23109											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	355	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08		7577121	73618089	30	23110											
SERPINB12	89777	broad.mit.edu	37	chr18	61225658	61225658	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaaaagcaacaaacaaaAagtgctggctgacagctctc	16	7	8	10	0	2	2	0	2	2	0	3	2	2	2	0	1	5	4	0	1	6	0			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chr18:61225658A>T	ENST00000382768.1	+	2	242	c.242A>T	c.(241-243)aAa>aTa	p.K81I	SERPINB12_ENST00000269491.1_Splice_Site_p.K81I			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						AACAAACAAAAAGTGCTGGCT	0.463													T	61225658	A	T	61225658	3	4	355	1	0	0	0	0	1	0	0	0	14192	28	1	5	248	5	SERPINB12	18	61225658	Missense_Mutation	SNP	A	TCGA-DU-5851-01A-13D-1893-08		61225658	16851590	31	23111											
MXRA5	25878	broad.mit.edu	37	chrX	3240116	3240116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtgttatccacccaagCtgtaggaaccagagaactct	13	9	8	11	0	1	1	0	0	1	1	2	3	2	2	3	1	4	3	3	1	6	2			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:3240116C>T	ENST00000217939.6	-	5	3764	c.3610G>A	c.(3610-3612)Gct>Act	p.A1204T		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1204						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCCACCCAAGCTGTAGGAACC	0.458													T	3240116	C	T	3240116	3	4	355	1	0	0	0	0	1	0	0	0	10079	797	28	2	4888	2	MXRA5	23	3240116	Missense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08		3240116	152030444	32	23112											
ZC3H12B	340554	broad.mit.edu	37	chrX	64719804	64719804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggacgccacggcccaaGccttgaaaatttcttaagaa	14	9	8	10	2	1	2	0	1	1	1	1	3	1	3	3	2	1	0	3	2	6	4			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:64719804G>T	ENST00000338957.4	+	4	1092	c.1025G>T	c.(1024-1026)aGc>aTc	p.S342I	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.S331I	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	331							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						CACGGCCCAAGCCTTGAAAAT	0.443													T	64719804	G	T	64719804	3	4	355	1	0	0	0	0	1	0	0	0	17663	971	34	4	1039	4	ZC3H12B	23	64719804	Missense_Mutation	SNP	G	TCGA-DU-5851-01A-13D-1893-08	61479688	64719804	90550756	33	23113											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	11	14	8	8	0	3	2	1	1	2	1	3	2	3	2	1	1	4	1	1	1	4	3	rs61754468	by1000genomes	TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													C	73811938	G	C	73811938	2	2	355	1	0	0	0	0	0	0	0	1	13481	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-DU-5851-01A-13D-1893-08	9092134	73811938	81458622	34	23114											
ATRX	546	broad.mit.edu	37	chrX	76939056	76939060	+	Frame_Shift_Del	DEL	ATTTA	ATTTA	-																															ctgttgtcttttgaagaaatAtttaattttacagatgaact																										TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:76939056_76939060delATTTA	ENST00000373344.5	-	9	1902_1906	c.1688_1692delTAAAT	c.(1687-1692)ttaaatfs	p.LN563fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.LN525fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	563					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)	TTGAAGAAATATTTAATTTTACAGA	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939060	ATTTA	-	76939056	7	5	355	1	0	1	0	1	0	0	0	0	1213	446	16	0	5894	0	ATRX	23	76939056	Frame_Shift_Del	DEL	ATTTA	TCGA-DU-5851-01A-13D-1893-08	3127118	76939056	78331504	35	23115											
COL4A5	1287	broad.mit.edu	37	chrX	107840717	107840717	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagagttgggttccccTggagctccagggcttcctgg	7	9	15	10	0	0	1	0	0	0	1	3	3	3	2	4	5	1	4	4	5	1	3	rs143442986		TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:107840717T>C	ENST00000328300.6	+	24	1942	c.1698T>C	c.(1696-1698)ccT>ccC	p.P566P	COL4A5_ENST00000361603.2_Silent_p.P566P	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	566	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						TGGGTTCCCCTGGAGCTCCAG	0.537									Alport syndrome with Diffuse Leiomyomatosis				C	107840717	T	C	107840717	2	2	355	1	0	0	0	0	0	0	0	1	3725	1567	55	3		3	COL4A5	23	107840717	Silent	SNP	T	TCGA-DU-5851-01A-13D-1893-08	30901661	107840717	47429843	36	23116											
SAGE1	55511	broad.mit.edu	37	chrX	134988650	134988650	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataacgtgttgttgactcttCgaccacggcgtattaatatg	10	14	9	8	4	1	1	0	1	1	0	2	2	1	1	1	1	1	3	1	1	4	7			TCGA-DU-5851-01A-13D-1893-08	TCGA-DU-5851-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c01a846-2703-42fc-86d0-4bf042d39576	3a33d274-022d-4113-bbe9-559ebc898229	g.chrX:134988650C>T	ENST00000535938.1	+	7	843	c.676C>T	c.(676-678)Cga>Tga	p.R226*	SAGE1_ENST00000370709.3_Nonsense_Mutation_p.R226*|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.R226*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	226										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					GTTGACTCTTCGACCACGGCG	0.428													T	134988650	C	T	134988650	4	4	355	1	0	0	0	0	0	1	0	0	13900	876	31	1	698	1	SAGE1	23	134988650	Nonsense_Mutation	SNP	C	TCGA-DU-5851-01A-13D-1893-08	27147933	134988650	20281910	37	23117											
NRD1	4898	broad.mit.edu	37	chr1	52301821	52301821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgtgctccaaaaagtgtgCcagccccggcaggtcatctg	9	8	11	13	1	2	0	1	0	1	0	3	0	3	0	4	2	3	2	4	2	2	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:52301821C>T	ENST00000354831.7	-	5	1087	c.898G>A	c.(898-900)Gca>Aca	p.A300T	NRD1_ENST00000544028.1_Missense_Mutation_p.A100T|NRD1_ENST00000539524.1_Missense_Mutation_p.A168T|NRD1_ENST00000352171.7_Missense_Mutation_p.A232T|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	231					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AAAAAGTGTGCCAGCCCCGGC	0.418													T	52301821	C	T	52301821	3	4	356	1	0	0	0	0	1	0	0	0	10721	739	26	2	2877	2	NRD1	1	52301821	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		52301821	196948800	1	23118											
ABCA4	24	broad.mit.edu	37	chr1	94486867	94486867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtgattccatactcctcGgggctcctgtccttaggcag	6	11	11	13	2	0	1	0	1	0	0	5	1	4	1	4	4	1	2	4	4	2	3	rs61750159		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:94486867G>A	ENST00000370225.3	-	35	5033	c.4947C>T	c.(4945-4947)ccC>ccT	p.P1649P		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1649					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CATACTCCTCGGGGCTCCTGT	0.557													A	94486867	G	A	94486867	2	1	356	1	0	0	0	0	0	0	0	1	34	1103	39	1		1	ABCA4	1	94486867	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	42185046	94486867	154763754	2	23119											
PPM1J	333926	broad.mit.edu	37	chr1	113252867	113252867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgttgttggggagaCgccagccacggtctcggggg	5	8	17	11	3	1	1	0	0	1	1	2	2	1	1	3	5	2	3	3	5	0	3	rs113935705	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:113252867C>T	ENST00000464951.1	-	11	2226	c.818G>A	c.(817-819)cGt>cAt	p.R273H	PPM1J_ENST00000309276.6_Missense_Mutation_p.R479H|RP11-426L16.10_ENST00000606505.1_Intron|RP11-426L16.10_ENST00000471038.2_Intron|PPM1J_ENST00000359994.4_Missense_Mutation_p.R273H			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	479	PP2C-like.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGGGAGACGCCAGCCACG	0.622													T	113252867	C	T	113252867	3	4	356	1	0	0	0	0	1	0	0	0	12424	536	19	1	85	1	PPM1J	1	113252867	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	18766000	113252867	135997754	3	23120											
AIM2	9447	broad.mit.edu	37	chr1	159032502	159032504	+	In_Frame_Del	DEL	TAA	TAA	-																															ctatgttttttttttggcctTaataacctggatggagaaaa																										TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:159032502_159032504delTAA	ENST00000368130.4	-	6	1298_1300	c.1010_1012delTTA	c.(1009-1014)attaag>aag	p.I337del		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	337	HIN-200.				cellular response to drug|immune response|interleukin-1 beta secretion	mitochondrion|nucleus				breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					TTTTTGGCCTTAATAACCTGGAT	0.399													-	159032504	TAA	-	159032502	7	5	356	1	0	1	0	1	0	0	0	0	432	1763	61	0	23	0	AIM2	1	159032502	In_Frame_Del	DEL	TAA	TCGA-DU-5852-01A-11D-1705-08	45779635	159032502	90218119	4	23121											
SLAMF7	57823	broad.mit.edu	37	chr1	160719612	160719612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttccttcctctcacagaGcacctgtcaaagcctaaagt	10	12	6	13	0	2	1	2	0	1	1	5	1	4	1	4	0	2	2	4	0	3	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:160719612G>A	ENST00000368043.3	+	3	415	c.378G>A	c.(376-378)gaG>gaA	p.E126E	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000458602.2_Splice_Site_p.E19E|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000458104.2_Splice_Site_p.E19E|SLAMF7_ENST00000359331.4_Splice_Site_p.E126E|SLAMF7_ENST00000368042.3_Splice_Site_p.E19E	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	126					cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTCTCACAGAGCACCTGTCAA	0.493													A	160719612	G	A	160719612	5	1	356	1	0	0	0	0	0	0	1	0	14463	985	34	2	388	2	SLAMF7	1	160719612	Splice_Site	SNP	G	TCGA-DU-5852-01A-11D-1705-08	1687110	160719612	88531009	5	23122											
F5	2153	broad.mit.edu	37	chr1	169512193	169512193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcatcttcaggttctaaaCgatcatgcattttccgtgta	9	16	6	10	2	5	0	3	0	2	0	6	1	6	0	1	1	2	3	1	1	3	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:169512193C>T	ENST00000367796.3	-	13	2351	c.2150G>A	c.(2149-2151)cGt>cAt	p.R717H	F5_ENST00000367797.3_Missense_Mutation_p.R712H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	712	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AGGTTCTAAACGATCATGCAT	0.403													T	169512193	C	T	169512193	3	4	356	1	0	0	0	0	1	0	0	0	5390	536	19	1	4591	1	F5	1	169512193	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	8792581	169512193	79738428	6	23123											
SLC35F3	148641	broad.mit.edu	37	chr1	234041367	234041367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttggtggtggacgaggCgattaaggaggatctgaaat	11	10	16	4	2	1	1	0	1	1	0	1	6	1	4	0	6	1	1	0	6	3	3	rs146928346		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:234041367C>T	ENST00000366618.3	+	2	291	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTGGACGAGGCGATTAAGGAG	0.647													T	234041367	C	T	234041367	3	4	356	1	0	0	0	0	1	0	0	0	14684	768	27	1	152	1	SLC35F3	1	234041367	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	64529174	234041367	15209254	7	23124											
OR14C36	127066	broad.mit.edu	37	chr1	248512354	248512354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccaccatttctaaggCgggatgtgtagctcaggtct	9	10	11	11	1	3	0	1	0	2	0	3	1	3	1	2	3	2	3	2	3	2	3	rs145207343		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr1:248512354C>T	ENST00000317861.1	+	1	278	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_001001918.1	NP_001001918.1	Q8NHC7	O14CZ_HUMAN	olfactory receptor, family 14, subfamily C, member 36	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A93E(1)		central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(2)|lung(20)|ovary(2)|prostate(3)|skin(7)|upper_aerodigestive_tract(2)	43						ATTTCTAAGGCGGGATGTGTA	0.473													T	248512354	C	T	248512354	3	4	356	1	0	0	0	0	1	0	0	0	11022	768	27	1	280	1	OR14C36	1	248512354	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	14470987	248512354	738267	8	23125											
USP34	9736	broad.mit.edu	37	chr2	61468710	61468710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatacctctagtaactctgaCgaaacatcaaatttgtattc	14	14	4	9	1	3	1	1	1	2	0	4	2	3	1	1	0	3	2	1	0	7	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:61468710C>T	ENST00000398571.2	-	53	6838	c.6762G>A	c.(6760-6762)tcG>tcA	p.S2254S		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2254					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			GTAACTCTGACGAAACATCAA	0.328													T	61468710	C	T	61468710	2	4	356	1	0	0	0	0	0	0	0	1	17167	523	19	1		1	USP34	2	61468710	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		61468710	181730663	9	23126											
PAX8	7849	broad.mit.edu	37	chr2	114002201	114002201	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgctgccagtctcgtagtaCctactccaatagagaatccc	11	10	7	13	1	1	1	0	0	1	1	4	2	3	1	4	0	4	3	4	0	6	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr2:114002201C>A	ENST00000429538.3	-	4	386	c.192G>T	c.(190-192)agG>agT	p.R64S	AC016683.6_ENST00000553869.2_RNA|PAX8_ENST00000348715.5_Splice_Site_p.R64S|AC016683.6_ENST00000445745.1_RNA|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000556070.1_RNA|PAX8_ENST00000263334.5_Splice_Site_p.R64S|AC016683.6_ENST00000422956.2_RNA|PAX8_ENST00000397647.3_Splice_Site_p.R64S|AC016683.6_ENST00000436293.2_RNA|PAX8_ENST00000263335.7_Splice_Site_p.R64S|AC016683.6_ENST00000333145.5_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	64	Paired.				branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TCTCGTAGTACCTACTCCAAT	0.552			T	PPARG	follicular thyroid		Thyroid dysgenesis						A	114002201	C	A	114002201	5	1	356	1	0	0	0	0	0	0	1	0	11561	521	18	4	1071	4	PAX8	2	114002201	Splice_Site	SNP	C	TCGA-DU-5852-01A-11D-1705-08	52533491	114002201	129197172	10	23127											
HRH1	3269	broad.mit.edu	37	chr3	11301013	11301013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagtggtcactgggccGtcctctctgcctcttttggc	3	13	11	14	1	3	0	1	0	2	0	6	0	5	0	4	3	1	0	4	3	1	2	rs139664451	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:11301013G>A	ENST00000397056.1	+	3	481	c.290G>A	c.(289-291)cGt>cAt	p.R97H	HRH1_ENST00000438284.2_Missense_Mutation_p.R97H|HRH1_ENST00000431010.2_Missense_Mutation_p.R97H	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	TCACTGGGCCGTCCTCTCTGC	0.552													A	11301013	G	A	11301013	3	1	356	1	0	0	0	0	1	0	0	0	7410	1145	40	1	292	1	HRH1	3	11301013	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		11301013	186721417	11	23128											
PBRM1	55193	broad.mit.edu	37	chr3	52651430	52651430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgattttataataatcagGatagtcctttttggatggtt	11	18	9	3	0	1	1	1	1	0	0	2	4	2	3	1	3	0	1	1	3	4	8			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr3:52651430G>A	ENST00000356770.4	-	13	1572	c.1570C>T	c.(1570-1572)Cct>Tct	p.P524S	PBRM1_ENST00000409767.1_Missense_Mutation_p.P571S|PBRM1_ENST00000409114.3_Missense_Mutation_p.P571S|PBRM1_ENST00000410007.1_Missense_Mutation_p.P556S|PBRM1_ENST00000394830.3_Missense_Mutation_p.P556S|PBRM1_ENST00000296302.7_Missense_Mutation_p.P556S|PBRM1_ENST00000409057.1_Missense_Mutation_p.P556S|PBRM1_ENST00000337303.4_Missense_Mutation_p.P556S			Q86U86	PB1_HUMAN	polybromo 1	556					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TAATAATCAGGATAGTCCTTT	0.363			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52651430	G	A	52651430	3	1	356	1	0	0	0	0	1	0	0	0	11567	1174	41	2	3302	2	PBRM1	3	52651430	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	41350417	52651430	145371000	12	23129											
BRD2	6046	broad.mit.edu	37	chr6	32947789	32947789	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaagccagggagccctctTtacgtgattcaaacccagaa	12	8	8	13	1	2	2	1	1	1	1	3	3	3	3	4	1	4	0	4	1	4	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:32947789T>A	ENST00000395289.2	+	12	3732	c.2131T>A	c.(2131-2133)Tta>Ata	p.L711I	BRD2_ENST00000374831.4_Missense_Mutation_p.L676I|BRD2_ENST00000443797.2_Missense_Mutation_p.L556I|BRD2_ENST00000374825.4_Missense_Mutation_p.L676I|BRD2_ENST00000449085.2_Missense_Mutation_p.L629I|BRD2_ENST00000395287.1_Missense_Mutation_p.L711I			P25440	BRD2_HUMAN	bromodomain containing 2	676	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						GGAGCCCTCTTTACGTGATTC	0.483													A	32947789	T	A	32947789	3	1	356	1	0	0	0	0	1	0	0	0	1511	1838	64	5	2064	5	BRD2	6	32947789	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08		32947789	138167278	13	23130											
PACSIN1	29993	broad.mit.edu	37	chr6	34498365	34498365	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggctggggaccgcggcagGtgagtgcctcctgtggagct	5	7	18	11	2	0	1	0	1	0	0	1	3	1	3	3	6	2	3	3	6	0	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:34498365G>A	ENST00000538621.1	+	8	1282		c.e8+1		PACSIN1_ENST00000244458.2_Splice_Site|PACSIN1_ENST00000374043.2_Splice_Site	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1						endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						ACCGCGGCAGGTGAGTGCCTC	0.582													A	34498365	G	A	34498365	5	1	356	1	0	0	0	0	0	0	1	0	11450	1275	44	2	1064	2	PACSIN1	6	34498365	Splice_Site	SNP	G	TCGA-DU-5852-01A-11D-1705-08	1550576	34498365	136616702	14	23131											
GPR115	221393	broad.mit.edu	37	chr6	47680159	47680159	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcatattctagactttCgagctccagagaccattgag	10	12	8	11	1	2	3	0	1	2	2	4	5	3	3	2	0	2	2	2	0	2	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:47680159C>T	ENST00000283303.2	+	5	625	c.367C>T	c.(367-369)Cga>Tga	p.R123*	GPR115_ENST00000327753.3_Nonsense_Mutation_p.R123*|GPR115_ENST00000371220.1_Nonsense_Mutation_p.R180*	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	123					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R123*(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						TCTAGACTTTCGAGCTCCAGA	0.423													T	47680159	C	T	47680159	4	4	356	1	0	0	0	0	0	1	0	0	6686	876	31	1	381	1	GPR115	6	47680159	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	13181794	47680159	123434908	15	23132											
FILIP1	27145	broad.mit.edu	37	chr6	76024624	76024624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatgctcttgagaaaacctCgaagccttgtgttcaaagtc	11	12	8	10	1	3	1	2	1	1	1	5	3	3	1	2	0	3	2	2	0	4	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:76024624C>T	ENST00000393004.2	-	5	1145	c.924G>A	c.(922-924)tcG>tcA	p.S308S	FILIP1_ENST00000370020.1_Silent_p.S209S|FILIP1_ENST00000237172.7_Silent_p.S308S|FILIP1_ENST00000498523.1_5'UTR			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	308										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GAGAAAACCTCGAAGCCTTGT	0.418													T	76024624	C	T	76024624	2	4	356	1	0	0	0	0	0	0	0	1	5943	871	31	1		1	FILIP1	6	76024624	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	28344465	76024624	95090443	16	23133											
HACE1	57531	broad.mit.edu	37	chr6	105232863	105232863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaaaactttcttaccccGgaggcatctgacaagaacag	14	7	8	12	1	2	2	0	1	2	1	2	3	2	3	3	2	4	1	3	2	5	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:105232863G>A	ENST00000262903.4	-	12	1682	c.1406C>T	c.(1405-1407)cCg>cTg	p.P469L	HACE1_ENST00000369125.2_Missense_Mutation_p.P469L	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	469					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTCTTACCCCGGAGGCATCTG	0.348													A	105232863	G	A	105232863	3	1	356	1	0	0	0	0	1	0	0	0	6995	1116	39	1	1375	1	HACE1	6	105232863	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	29208239	105232863	65882204	17	23134											
SLC35F1	222553	broad.mit.edu	37	chr6	118635328	118635328	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggacctgttgtggacttAccgaccacagctcaggtgga	9	9	12	11	1	2	0	2	0	0	0	2	4	2	3	3	4	2	2	3	4	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr6:118635328A>C	ENST00000360388.4	+	8	1341	c.1140A>C	c.(1138-1140)ttA>ttC	p.L380F		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	380					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTGTGGACTTACCGACCACAG	0.597													C	118635328	A	C	118635328	3	2	356	1	0	0	0	0	1	0	0	0	14682	388	14	5	1170	5	SLC35F1	6	118635328	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	13402465	118635328	52479739	18	23135											
COBL	23242	broad.mit.edu	37	chr7	51287614	51287614	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcctttccaggaggTgggggagcacgagccttcat	7	8	16	10	1	1	0	1	0	0	0	2	3	2	2	3	5	3	2	3	5	0	2	rs145775268	by1000genomes	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000265136.7_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													G	51287614	T	G	51287614	2	3	356	1	0	0	0	0	0	0	0	1	3684	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-5852-01A-11D-1705-08		51287614	107851049	19	23136											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221710	C	T	55221710	3	4	356	1	0	0	0	0	1	0	0	0	5006	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	3934096	55221710	103916953	20	23137											
EGFR	1956	broad.mit.edu	37	chr7	55268101	55268101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccagcgctaccttgtcAttcaggtacaaattgcagtc	10	10	7	14	1	2	0	2	0	0	0	3	0	2	0	3	1	4	3	3	1	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:55268101A>T	ENST00000275493.2	+	24	3118	c.2941A>T	c.(2941-2943)Att>Ttt	p.I981F	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.I928F|EGFR_ENST00000455089.1_Missense_Mutation_p.I936F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	981					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTACCTTGTCATTCAGGTACA	0.517		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55268101	A	T	55268101	3	4	356	1	0	0	0	0	1	0	0	0	5006	217	8	5	3299	5	EGFR	7	55268101	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	46391	55268101	103870562	21	23138											
AUTS2	26053	broad.mit.edu	37	chr7	70231260	70231260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgcaccagcacaccttCacgccgttcccccacgccat	9	5	5	22	4	1	0	1	0	0	0	2	0	2	0	6	0	1	3	6	0	0	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:70231260C>A	ENST00000342771.4	+	9	1950	c.1629C>A	c.(1627-1629)ttC>ttA	p.F543L	AUTS2_ENST00000406775.2_Missense_Mutation_p.F543L	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	543	His-rich.									breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		agcacacCTTCACGCCGTTCC	0.657													A	70231260	C	A	70231260	3	1	356	1	0	0	0	0	1	0	0	0	1230	825	29	4	1808	4	AUTS2	7	70231260	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	14963159	70231260	88907403	22	23139											
STAG3	10734	broad.mit.edu	37	chr7	99795727	99795727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaccggatggtttccatGgtcatggacagagagtatga	11	9	14	7	1	1	2	1	1	0	1	2	6	2	5	2	5	0	2	2	5	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:99795727G>A	ENST00000426455.1	+	12	1589	c.1182G>A	c.(1180-1182)atG>atA	p.M394I	STAG3_ENST00000394018.2_Missense_Mutation_p.M336I|STAG3_ENST00000317296.5_Missense_Mutation_p.M394I|STAG3_ENST00000440830.1_3'UTR	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	394	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTTCCATGGTCATGGACA	0.463													A	99795727	G	A	99795727	3	1	356	1	0	0	0	0	1	0	0	0	15340	1348	47	2	1224	2	STAG3	7	99795727	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	29564467	99795727	59342936	23	23140											
CUL1	8454	broad.mit.edu	37	chr7	148451085	148451085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcatgtttataactactGtactagtgttcaccagtcaa	13	14	6	8	0	3	0	3	0	0	0	3	0	3	0	1	0	3	3	1	0	7	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr7:148451085G>A	ENST00000325222.4	+	3	437	c.158G>A	c.(157-159)tGt>tAt	p.C53Y	CUL1_ENST00000602748.1_Missense_Mutation_p.C53Y|CUL1_ENST00000409469.1_Missense_Mutation_p.C53Y	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein ubiquitination|S phase of mitotic cell cycle|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytosol|nucleoplasm|SCF ubiquitin ligase complex	ubiquitin protein ligase binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			TATAACTACTGTACTAGTGTT	0.403													A	148451085	G	A	148451085	3	1	356	1	0	0	0	0	1	0	0	0	4087	1377	48	2	164	2	CUL1	7	148451085	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	48655358	148451085	10687578	24	23141											
LETM2	137994	broad.mit.edu	37	chr8	38250441	38250441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctacttactttggattgaCgccaaagttgctgccagaat	10	14	8	9	1	1	2	0	1	1	1	1	3	1	3	2	1	4	2	2	1	4	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:38250441C>T	ENST00000519476.2	+	3	729	c.429C>T	c.(427-429)gaC>gaT	p.D143D	LETM2_ENST00000523983.2_Silent_p.D96D|LETM2_ENST00000297720.5_Silent_p.D96D|LETM2_ENST00000379957.4_Silent_p.D143D|LETM2_ENST00000524874.1_Silent_p.D143D			Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	143	LETM1.					integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			TTTGGATTGACGCCAAAGTTG	0.393													T	38250441	C	T	38250441	2	4	356	1	0	0	0	0	0	0	0	1	8794	535	19	1		1	LETM2	8	38250441	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		38250441	108113581	25	23142											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885200	88885200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattctcgtgtagcagtcctGgcccacggccgccacgactc	6	8	11	16	4	1	0	0	0	1	0	4	2	2	0	4	2	1	2	4	2	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:88885200G>C	ENST00000319675.3	-	1	1096	c.1000C>G	c.(1000-1002)Cag>Gag	p.Q334E		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	334										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TAGCAGTCCTGGCCCACGGCC	0.572													C	88885200	G	C	88885200	3	2	356	1	0	0	0	0	1	0	0	0	4306	1357	47	4	191	4	DCAF4L2	8	88885200	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	50634759	88885200	57478822	26	23143											
SLC45A4	57210	broad.mit.edu	37	chr8	142228890	142228890	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccgactgtacctcgtctggGaaggcagggacgccgtgcgg	6	7	16	12	5	1	0	0	0	1	0	3	3	2	2	3	4	2	2	3	4	2	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr8:142228890G>A	ENST00000519067.1	-	4	999	c.696C>T	c.(694-696)ttC>ttT	p.F232F	SLC45A4_ENST00000024061.3_Silent_p.F232F|SLC45A4_ENST00000517878.1_Silent_p.F283F|SLC45A4_ENST00000433583.2_Silent_p.F225F			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	283					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			CCTCGTCTGGGAAGGCAGGGA	0.677													A	142228890	G	A	142228890	2	1	356	1	0	0	0	0	0	0	0	1	14737	1165	41	2		2	SLC45A4	8	142228890	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	53343690	142228890	4135132	27	23144											
SECISBP2	79048	broad.mit.edu	37	chr9	91954798	91954798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgccgaggaatttcccaAcctggcagttgcatctgaaa	11	9	11	10	1	1	1	0	1	1	0	2	4	2	3	3	3	3	3	3	3	3	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr9:91954798A>G	ENST00000375807.3	+	9	1303	c.1232A>G	c.(1231-1233)aAc>aGc	p.N411S	SECISBP2_ENST00000534113.2_Missense_Mutation_p.N343S|SECISBP2_ENST00000339901.4_Missense_Mutation_p.N338S	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	411					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						GAATTTCCCAACCTGGCAGTT	0.398													G	91954798	A	G	91954798	3	3	356	1	0	0	0	0	1	0	0	0	14099	43	2	3	1266	3	SECISBP2	9	91954798	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08		91954798	49258633	28	23145											
YME1L1	10730	broad.mit.edu	37	chr10	27411836	27411836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcattggagattcaattCtcttcccaccaacagaatct	12	12	6	11	0	3	2	1	0	2	2	5	4	4	2	2	1	2	1	2	1	3	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:27411836C>A	ENST00000326799.3	-	12	1488	c.1340G>T	c.(1339-1341)aGa>aTa	p.R447I	YME1L1_ENST00000375972.3_Missense_Mutation_p.R357I|YME1L1_ENST00000376016.3_Missense_Mutation_p.R390I	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	447					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity	p.R447I(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						AGATTCAATTCTCTTCCCACC	0.348													A	27411836	C	A	27411836	3	1	356	1	0	0	0	0	1	0	0	0	17589	913	32	4	1017	4	YME1L1	10	27411836	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		27411836	108122911	29	23146											
RET	5979	broad.mit.edu	37	chr10	43595972	43595972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtggaccaggcagccGgcacgcccttgctgtacgtc	6	9	13	13	3	0	0	0	0	0	0	1	1	0	1	3	3	3	5	3	3	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:43595972G>A	ENST00000355710.3	+	2	371	c.139G>A	c.(139-141)Ggc>Agc	p.G47S	RET_ENST00000340058.5_Missense_Mutation_p.G47S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	47					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CCAGGCAGCCGGCACGCCCTT	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				A	43595972	G	A	43595972	3	1	356	1	0	0	0	0	1	0	0	0	13323	1116	39	1	145	1	RET	10	43595972	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	16184136	43595972	91938775	30	23147											
C10orf71	118461	broad.mit.edu	37	chr10	50531225	50531225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagaacagctaccagcCaggcaggaagcacggagaac	15	2	11	13	1	1	2	1	0	0	2	1	4	1	3	3	3	6	3	3	3	4	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:50531225C>T	ENST00000374144.3	+	3	923	c.635C>T	c.(634-636)cCa>cTa	p.P212L	C10orf71_ENST00000323868.4_Missense_Mutation_p.P212L			Q711Q0	CJ071_HUMAN	chromosome 10 open reading frame 71	212										endometrium(1)	1						AGCTACCAGCCAGGCAGGAAG	0.547													T	50531225	C	T	50531225	3	4	356	1	0	0	0	0	1	0	0	0	1625	594	21	2	637	2	C10orf71	10	50531225	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	6935253	50531225	85003522	31	23148											
COL17A1	1308	broad.mit.edu	37	chr10	105803313	105803313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggtcctggggggcCtgggacagtgagcatcgatg	7	7	18	9	1	0	1	0	1	0	0	3	4	2	3	3	6	1	1	3	6	0	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr10:105803313C>T	ENST00000353479.5	-	35	2751	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	COL17A1_ENST00000369733.3_Missense_Mutation_p.G821S	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	821	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		CCTGGGGGGCCTGGGACAGTG	0.572													T	105803313	C	T	105803313	3	4	356	1	0	0	0	0	1	0	0	0	3705	681	24	2	2120	2	COL17A1	10	105803313	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	55272088	105803313	29731434	32	23149											
MUC5B	727897	broad.mit.edu	37	chr11	1268697	1268697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttctccagggacgaccacCccgggccacaccaggggcac	8	3	11	19	2	1	0	0	0	1	0	2	2	1	1	7	4	0	1	7	4	0	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:1268697C>T	ENST00000447027.1	+	31	10654	c.10596C>T	c.(10594-10596)acC>acT	p.T3532T	MUC5B_ENST00000529681.1_Silent_p.T3529T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3529	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GGACGACCACCCCGGGCCACA	0.687													T	1268697	C	T	1268697	2	4	356	1	0	0	0	0	0	0	0	1	10055	610	22	2		2	MUC5B	11	1268697	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		1268697	133737819	33	23150											
OR51A4	401666	broad.mit.edu	37	chr11	4967723	4967723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccataaggcagagtgctccaAaaaagccatagataacatca	18	6	7	10	0	1	2	1	0	0	2	2	2	2	2	3	1	3	2	3	1	6	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:4967723A>G	ENST00000380373.2	-	1	633	c.608T>C	c.(607-609)tTt>tCt	p.F203S	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAGTGCTCCAAAAAAGCCATA	0.418													G	4967723	A	G	4967723	3	3	356	1	0	0	0	0	1	0	0	0	11163	14	1	3	335	3	OR51A4	11	4967723	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	3699026	4967723	130038793	34	23151											
POLR2G	5436	broad.mit.edu	37	chr11	62530370	62530370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taattgctgtcaccaccattGacaatattggtgctggtgtg	9	14	10	8	0	1	1	1	1	0	0	1	1	1	1	2	2	2	2	2	2	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:62530370G>A	ENST00000301788.7	+	3	259	c.154G>A	c.(154-156)Gac>Aac	p.D52N		NM_002696.2	NP_002687.1	P62487	RPB7_HUMAN	polymerase (RNA) II (DNA directed) polypeptide G	52					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA-directed RNA polymerase activity|protein binding|RNA binding			lung(3)	3						CACCACCATTGACAATATTGG	0.468													A	62530370	G	A	62530370	3	1	356	1	0	0	0	0	1	0	0	0	12297	1290	45	2	164	2	POLR2G	11	62530370	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	57562647	62530370	72476146	35	23152											
SLC22A10	387775	broad.mit.edu	37	chr11	63064782	63064782	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgtttctcaggtttgggCgaagatttattctcagatgg	7	15	12	7	2	2	2	2	0	2	2	4	3	2	2	0	3	0	3	0	3	2	5	rs111381363		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:63064782C>T	ENST00000544661.1	+	4	477	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC22A10_ENST00000332793.6_Nonsense_Mutation_p.R172*|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	172						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CAGGTTTGGGCGAAGATTTAT	0.398													T	63064782	C	T	63064782	4	4	356	1	0	0	0	0	0	1	0	0	14535	760	27	1	524	1	SLC22A10	11	63064782	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	534412	63064782	71941734	36	23153											
DPP3	10072	broad.mit.edu	37	chr11	66276620	66276620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgatccttctctgagcgtttCccagaggatggacccgagtt	7	11	11	12	3	1	2	0	1	1	1	4	6	3	4	3	2	1	2	3	2	0	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:66276620C>T	ENST00000532677.1	+	18	2570	c.2169C>T	c.(2167-2169)ttC>ttT	p.F723F	DPP3_ENST00000530165.1_Silent_p.F674F|DPP3_ENST00000541961.1_Silent_p.F704F|DPP3_ENST00000531863.1_Silent_p.F724F|DPP3_ENST00000453114.1_Silent_p.F704F|CTD-3074O7.11_ENST00000419755.3_5'UTR|DPP3_ENST00000360510.2_Silent_p.F704F	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	704					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CTGAGCGTTTCCCAGAGGATG	0.602													T	66276620	C	T	66276620	2	4	356	1	0	0	0	0	0	0	0	1	4767	854	30	2		2	DPP3	11	66276620	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	3211838	66276620	68729896	37	23154											
GAB2	9846	broad.mit.edu	37	chr11	77931439	77931439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgccggtgctcttcttagGggcaggactgttcgtgccac	4	11	14	12	2	2	0	0	0	2	0	3	1	2	1	2	4	3	4	2	4	1	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:77931439G>A	ENST00000361507.4	-	9	1898	c.1813C>T	c.(1813-1815)Cct>Tct	p.P605S	GAB2_ENST00000340149.2_Missense_Mutation_p.P567S	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	605					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			CTCTTCTTAGGGGCAGGACTG	0.577													A	77931439	G	A	77931439	3	1	356	1	0	0	0	0	1	0	0	0	6201	1232	43	2	225	2	GAB2	11	77931439	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	11654819	77931439	57075077	38	23155											
HTR3A	3359	broad.mit.edu	37	chr11	113860240	113860240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggacttcgagaagagcCcgagggacagatgtagccct	11	5	13	12	2	0	3	0	0	0	3	1	7	0	5	3	2	2	1	3	2	2	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:113860240C>T	ENST00000504030.2	+	9	1637	c.1192C>T	c.(1192-1194)Ccg>Tcg	p.P398S	HTR3A_ENST00000506841.2_Missense_Mutation_p.P430S|HTR3A_ENST00000299961.5_Missense_Mutation_p.P383S|HTR3A_ENST00000355556.2_Missense_Mutation_p.P436S|HTR3A_ENST00000375498.2_Missense_Mutation_p.P404S|HTR3A_ENST00000535865.1_Missense_Mutation_p.P142S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	398					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CGAGAAGAGCCCGAGGGACAG	0.637													T	113860240	C	T	113860240	3	4	356	1	0	0	0	0	1	0	0	0	7502	623	22	2	1362	2	HTR3A	11	113860240	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	35928801	113860240	21146276	39	23156											
OR6M1	390261	broad.mit.edu	37	chr11	123676254	123676254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggacagcggccaccttGtcataatccagtgaggagtt	11	9	12	9	1	1	2	1	2	0	0	2	4	2	4	3	3	1	1	3	3	1	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr11:123676254G>C	ENST00000309154.2	-	1	841	c.804C>G	c.(802-804)gaC>gaG	p.D268E		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CGGCCACCTTGTCATAATCCA	0.488													C	123676254	G	C	123676254	3	2	356	1	0	0	0	0	1	0	0	0	11281	1368	48	4	140	4	OR6M1	11	123676254	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	9816014	123676254	11330262	40	23157											
GDF3	9573	broad.mit.edu	37	chr12	7843233	7843233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttctttgatggcagacagGttaaagtagaggagcttctg	10	13	12	6	0	2	3	0	1	2	2	2	4	2	4	0	3	1	4	0	3	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7843233G>A	ENST00000329913.3	-	2	383	c.336C>T	c.(334-336)aaC>aaT	p.N112N		NM_020634.1	NP_065685.1	Q9NR23	GDF3_HUMAN	growth differentiation factor 3	112					eye development|growth|skeletal system development	extracellular space	cytokine activity|growth factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGGCAGACAGGTTAAAGTAGA	0.478													A	7843233	G	A	7843233	2	1	356	1	0	0	0	0	0	0	0	1	6371	1252	44	2		2	GDF3	12	7843233	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08		7843233	126008662	41	23158											
DPPA3	359787	broad.mit.edu	37	chr12	7867929	7867929	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaatcgaagatgagtGgctttacagcaggagaggag	14	6	16	5	1	0	3	0	1	0	2	1	7	0	5	0	4	2	2	0	4	3	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:7867929G>A	ENST00000345088.2	+	2	350	c.233G>A	c.(232-234)tGg>tAg	p.W78*		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	78						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		GAAGATGAGTGGCTTTACAGC	0.478													A	7867929	G	A	7867929	4	1	356	1	0	0	0	0	0	1	0	0	4774	1357	47	2	239	2	DPPA3	12	7867929	Nonsense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	24696	7867929	125983966	42	23159											
STAT6	6778	broad.mit.edu	37	chr12	57501513	57501513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggcgtcggagcCgaccaggaactccctgcagg	10	3	15	13	3	0	1	0	0	0	1	2	4	1	3	3	4	4	3	3	4	2	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr12:57501513C>T	ENST00000300134.3	-	3	455	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	STAT6_ENST00000556155.1_Missense_Mutation_p.G44S|STAT6_ENST00000538913.2_Intron|STAT6_ENST00000454075.3_Missense_Mutation_p.G44S|STAT6_ENST00000543873.2_Missense_Mutation_p.G44S|STAT6_ENST00000537215.2_5'UTR	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	44					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	p.G44S(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GCGTCGGAGCCGACCAGGAAC	0.602													T	57501513	C	T	57501513	3	4	356	1	0	0	0	0	1	0	0	0	15366	652	23	1	2493	1	STAT6	12	57501513	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	49633584	57501513	76350382	43	23160											
YLPM1	56252	broad.mit.edu	37	chr14	75230628	75230628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaatggagctggaatccCcccctgaatctccccctgtg	7	10	8	16	0	1	1	0	1	1	0	4	3	3	3	6	2	1	1	6	2	3	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr14:75230628C>A	ENST00000325680.7	+	1	560	c.436C>A	c.(436-438)Ccc>Acc	p.P146T	YLPM1_ENST00000238571.3_Missense_Mutation_p.P146T|YLPM1_ENST00000552421.1_Missense_Mutation_p.P146T	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	146	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTGGAATCCCCCCCTGAATC	0.612													A	75230628	C	A	75230628	3	1	356	1	0	0	0	0	1	0	0	0	17588	623	22	4	438	4	YLPM1	14	75230628	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08		75230628	32118912	44	23161											
UBL7	84993	broad.mit.edu	37	chr15	74751068	74751068	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcctggagtttgccagcAataagctgcttcagaaatga	12	10	10	9	0	1	2	1	1	0	1	2	4	2	3	2	1	4	4	2	1	3	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:74751068A>G	ENST00000567435.1	-	2	604	c.141T>C	c.(139-141)atT>atC	p.I47I	UBL7_ENST00000564488.1_Silent_p.I47I|UBL7_ENST00000565335.1_Silent_p.I47I|UBL7_ENST00000361351.4_Silent_p.I47I|UBL7_ENST00000395081.2_Silent_p.I47I			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	47	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						GTTTGCCAGCAATAAGCTGCT	0.502													G	74751068	A	G	74751068	2	3	356	1	0	0	0	0	0	0	0	1	16992	126	5	3		3	UBL7	15	74751068	Silent	SNP	A	TCGA-DU-5852-01A-11D-1705-08		74751068	27780324	45	23162											
KIAA1199	57214	broad.mit.edu	37	chr15	81181824	81181824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctagacgtggagtggaCggagtggttcgatcatgata	9	10	15	7	3	1	2	1	1	0	1	2	6	1	5	1	4	1	1	1	4	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:81181824C>T	ENST00000394685.3	+	10	1396	c.977C>T	c.(976-978)aCg>aTg	p.T326M	KIAA1199_ENST00000220244.3_Missense_Mutation_p.T326M|KIAA1199_ENST00000356249.5_Missense_Mutation_p.T326M			Q8WUJ3	K1199_HUMAN	KIAA1199	326								p.T326M(1)		breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GTGGAGTGGACGGAGTGGTTC	0.483													T	81181824	C	T	81181824	3	4	356	1	0	0	0	0	1	0	0	0	8271	536	19	1	1007	1	KIAA1199	15	81181824	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	6430756	81181824	21349568	46	23163											
SLCO3A1	28232	broad.mit.edu	37	chr15	92706193	92706193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgaggaaaaactataaacGctacatcaaaaaccacgagg	19	5	7	10	2	1	1	1	1	0	0	1	3	1	2	2	2	4	1	2	2	8	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr15:92706193G>A	ENST00000318445.6	+	10	2175	c.1961G>A	c.(1960-1962)cGc>cAc	p.R654H	SLCO3A1_ENST00000555549.1_3'UTR|RP11-24J19.1_ENST00000557683.1_RNA|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.R654H|RP11-152L20.3_ENST00000561674.1_RNA	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	654					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity	p.R654H(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			AACTATAAACGCTACATCAAA	0.547													A	92706193	G	A	92706193	3	1	356	1	0	0	0	0	1	0	0	0	14822	1087	38	1	1999	1	SLCO3A1	15	92706193	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	11524369	92706193	9825199	47	23164											
SLC12A3	6559	broad.mit.edu	37	chr16	56928468	56928468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctcctcattccctatctCcttggccgcaagaggaggtg	7	10	9	15	1	2	1	1	0	1	1	5	2	4	2	5	3	0	1	5	3	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:56928468C>T	ENST00000438926.2	+	22	2603	c.2574C>T	c.(2572-2574)ctC>ctT	p.L858L	SLC12A3_ENST00000262502.5_Silent_p.L848L|SLC12A3_ENST00000566786.1_Silent_p.L857L|SLC12A3_ENST00000563236.1_Silent_p.L849L	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	849					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TTCCCTATCTCCTTGGCCGCA	0.557													T	56928468	C	T	56928468	2	4	356	1	0	0	0	0	0	0	0	1	14478	842	30	2		2	SLC12A3	16	56928468	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08		56928468	33426285	48	23165											
NUDT7	283927	broad.mit.edu	37	chr16	77775636	77775636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcacacgtcttggtcaccGttttattaatcatatctttg	8	17	6	10	3	5	0	3	0	2	0	5	0	5	0	1	1	0	1	1	1	3	6	rs35294368		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:77775636G>A	ENST00000268533.5	+	4	575	c.506G>A	c.(505-507)cGt>cAt	p.R169H	NUDT7_ENST00000563839.1_3'UTR|RP11-264M12.2_ENST00000563690.1_RNA|NUDT7_ENST00000564031.1_3'UTR|NUDT7_ENST00000564085.1_3'UTR|NUDT7_ENST00000437314.3_Missense_Mutation_p.R116H	NM_001105663.2	NP_001099133.1	P0C024	NUDT7_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 7	169	Nudix hydrolase.				nucleoside diphosphate metabolic process	peroxisome	hydrolase activity, acting on acid anhydrides, in phosphorus-containing anhydrides|magnesium ion binding|manganese ion binding			breast(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|skin(1)	18						CTTGGTCACCGTTTTATTAAT	0.473													A	77775636	G	A	77775636	3	1	356	1	0	0	0	0	1	0	0	0	10820	1145	40	1	520	1	NUDT7	16	77775636	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	20847168	77775636	12579117	49	23166											
CDH13	1012	broad.mit.edu	37	chr16	83250986	83250986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaaaggtccaagttcCggctcactggaaagggagtg	11	6	15	9	1	1	1	1	0	0	1	3	3	3	3	3	5	0	2	3	5	3	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr16:83250986C>T	ENST00000566620.1	+	5	810	c.520C>T	c.(520-522)Cgg>Tgg	p.R174W	CDH13_ENST00000428848.3_Missense_Mutation_p.R135W|CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000268613.10_Missense_Mutation_p.R221W	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	174	Cadherin 1.				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)		GTCCAAGTTCCGGCTCACTGG	0.463													T	83250986	C	T	83250986	3	4	356	1	0	0	0	0	1	0	0	0	3129	643	23	1	538	1	CDH13	16	83250986	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	5475350	83250986	7103767	50	23167											
OVCA2	124641	broad.mit.edu	37	chr17	1946242	1946242	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttcgctccatgtttttggGgacactgacaaagtcatccc	8	12	8	13	1	1	1	1	1	0	0	4	2	3	2	3	2	0	2	3	2	1	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:1946242G>A	ENST00000572195.1	+	2	543	c.528G>A	c.(526-528)ggG>ggA	p.G176G	DPH1_ENST00000570477.1_3'UTR|RP11-667K14.4_ENST00000572404.1_RNA|DPH1_ENST00000263083.6_3'UTR	NM_080822.2	NP_543012.1	Q8WZ82	OVCA2_HUMAN	ovarian tumor suppressor candidate 2	176					response to retinoic acid	cytoplasm	hydrolase activity										ATGTTTTTGGGGACACTGACA	0.547											OREG0024078	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1946242	G	A	1946242	2	1	356	1	0	0	0	0	0	0	0	1	11398	1219	43	2		2	OVCA2	17	1946242	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08		1946242	79248968	51	23168											
RANGRF	29098	broad.mit.edu	37	chr17	8192897	8192897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatctcttgcttaccttcaAtcagcccccgtaaggaggaa	10	11	8	12	1	3	1	2	1	1	0	4	3	3	3	3	2	3	2	3	2	4	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:8192897A>G	ENST00000407006.4	+	4	563	c.428A>G	c.(427-429)aAt>aGt	p.N143S	RANGRF_ENST00000226105.6_Missense_Mutation_p.N143S|SLC25A35_ENST00000396278.1_3'UTR|RANGRF_ENST00000439238.3_3'UTR|SLC25A35_ENST00000579192.1_3'UTR|SLC25A35_ENST00000380067.2_3'UTR|RANGRF_ENST00000580434.1_Intron|SLC25A35_ENST00000580340.1_3'UTR	NM_001177801.1|NM_001177802.1	NP_001171272.1|NP_001171273.1	Q9HD47	MOG1_HUMAN	RAN guanine nucleotide release factor	143					protein transport	cytoplasm|nucleus	guanyl-nucleotide exchange factor activity			endometrium(1)	1						CTTACCTTCAATCAGCCCCCG	0.567													G	8192897	A	G	8192897	3	3	356	1	0	0	0	0	1	0	0	0	13122	101	4	3	526	3	RANGRF	17	8192897	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08	6246655	8192897	73002313	52	23169											
MYOCD	93649	broad.mit.edu	37	chr17	12656007	12656007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctctgacctgtcagtcGctgggtccctgccggacacc	4	9	10	18	2	2	1	1	1	1	0	5	2	4	2	6	2	1	1	6	2	0	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:12656007G>A	ENST00000425538.1	+	10	1602	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.A468T|AC005358.1_ENST00000609971.1_Missense_Mutation_p.A372T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	468	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.A468T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCTGTCAGTCGCTGGGTCCCT	0.627													A	12656007	G	A	12656007	3	1	356	1	0	0	0	0	1	0	0	0	10163	1087	38	1	1440	1	MYOCD	17	12656007	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	4463110	12656007	68539203	53	23170											
SREBF1	6720	broad.mit.edu	37	chr17	17721591	17721591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcttttgtggacagcaGtgcgcagacttaggttctcc	7	12	11	11	1	1	1	0	0	1	1	2	2	1	2	1	2	3	4	1	2	1	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:17721591G>A	ENST00000355815.4	-	7	1425	c.1256C>T	c.(1255-1257)aCt>aTt	p.T419I	SREBF1_ENST00000338854.5_Missense_Mutation_p.T389I|SREBF1_ENST00000395757.1_Missense_Mutation_p.T135I|SREBF1_ENST00000261646.5_Missense_Mutation_p.T389I|SREBF1_ENST00000435530.2_Missense_Mutation_p.T389I	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	389	Interaction with LMNA (By similarity).				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GTGGACAGCAGTGCGCAGACT	0.547													A	17721591	G	A	17721591	3	1	356	1	0	0	0	0	1	0	0	0	15237	1029	36	2	2333	2	SREBF1	17	17721591	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	5065584	17721591	63473619	54	23171											
FAM83G	644815	broad.mit.edu	37	chr17	18881610	18881610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccacagctggtgctgggCgctggcctgggaggtgtcac	4	9	16	12	1	1	0	1	0	0	0	2	1	2	1	2	5	2	3	2	5	0	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr17:18881610C>T	ENST00000388995.6	-	5	1592	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A457T|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A457T|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	457										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGTGCTGGGCGCTGGCCTGG	0.642													T	18881610	C	T	18881610	3	4	356	1	0	0	0	0	1	0	0	0	5689	768	27	1	1110	1	FAM83G	17	18881610	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1160019	18881610	62313600	55	23172											
LAMA3	3909	broad.mit.edu	37	chr18	21402283	21402283	+	Missense_Mutation	SNP	A	A	T																															gtttcgtgttattctgagatAcgttaaccctggaactgaag																										TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402283A>T	ENST00000313654.9	+	20	2613	c.2372A>T	c.(2371-2373)tAc>tTc	p.Y791F	LAMA3_ENST00000399516.3_Missense_Mutation_p.Y791F	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCTGAGATACGTTAACCCT	0.383													T	21402283	A	T	21402283	3	4	356	1	0	0	0	0	1	0	0	0	8666	391	14	5	2450	5	LAMA3	18	21402283	Missense_Mutation	SNP	A	TCGA-DU-5852-01A-11D-1705-08		21402283	56674965	56	23173	38	2									
LAMA3	3909	broad.mit.edu	37	chr18	21402284	21402284	+	Silent	SNP	C	C	T																															tttcgtgttattctgagataCgttaaccctggaactgaagc																										TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr18:21402284C>T	ENST00000313654.9	+	20	2614	c.2373C>T	c.(2371-2373)taC>taT	p.Y791Y	LAMA3_ENST00000399516.3_Silent_p.Y791Y	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	791					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTGAGATACGTTAACCCTG	0.383													T	21402284	C	T	21402284	2	4	356	1	0	0	0	0	0	0	0	1	8666	547	19	1		1	LAMA3	18	21402284	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1	21402284	56674964	57	23174	38	2									
USE1	55850	broad.mit.edu	37	chr19	17327047	17327047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtgccaaccacagccagaGagcgagtgcccgccacaaag	12	3	12	14	2	0	1	0	0	0	1	0	3	0	1	5	0	5	0	5	0	2	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:17327047G>A	ENST00000595101.1	+	4	319	c.301G>A	c.(301-303)Gag>Aag	p.E101K	USE1_ENST00000379776.4_Missense_Mutation_p.E101K|USE1_ENST00000263897.5_Missense_Mutation_p.E101K|USE1_ENST00000445667.2_Missense_Mutation_p.E101K|USE1_ENST00000596136.1_Missense_Mutation_p.E101K			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	101					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CACAGCCAGAGAGCGAGTGCC	0.607													A	17327047	G	A	17327047	3	1	356	1	0	0	0	0	1	0	0	0	17133	943	33	2	315	2	USE1	19	17327047	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		17327047	41801936	58	23175											
LRRC4B	94030	broad.mit.edu	37	chr19	51020955	51020955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttgctgctgtagtgcGccttgaaggcggcagccacg	5	9	17	10	3	0	1	0	1	0	0	0	1	0	1	2	4	4	5	2	4	2	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51020955G>A	ENST00000599957.1	-	3	2212	c.2015C>T	c.(2014-2016)gCg>gTg	p.A672V	LRRC4B_ENST00000389201.3_Missense_Mutation_p.A672V			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	672						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCTGTAGTGCGCCTTGAAGGC	0.692													A	51020955	G	A	51020955	3	1	356	1	0	0	0	0	1	0	0	0	9077	1087	38	1	130	1	LRRC4B	19	51020955	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	33693908	51020955	8108028	59	23176											
KLK1	3816	broad.mit.edu	37	chr19	51323240	51323240	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcttttttgcactcaTcattaggcaggattttgagg	7	15	12	7	1	2	1	2	1	0	0	2	2	2	2	0	4	1	3	0	4	1	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51323240T>G	ENST00000448701.2	-	5	1566	c.242A>C	c.(241-243)gAt>gCt	p.D81A	KLK1_ENST00000301420.2_Missense_Mutation_p.D183A			P06870	KLK1_HUMAN	kallikrein 1	183	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGCACTCATCATTAGGCAG	0.547													G	51323240	T	G	51323240	3	3	356	1	0	0	0	0	1	0	0	0	8455	1435	50	5	248	5	KLK1	19	51323240	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	302285	51323240	7805743	60	23177											
KLK15	55554	broad.mit.edu	37	chr19	51330300	51330300	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcgcagcaacatgatgtcGttgcggtggctgcgcgcttc	6	9	15	11	5	0	1	0	1	0	0	2	1	0	1	0	3	4	5	0	3	1	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:51330300G>A	ENST00000326856.4	-	4	441	c.312C>T	c.(310-312)aaC>aaT	p.N104N	KLK15_ENST00000598239.1_Silent_p.N105N|KLK15_ENST00000301421.2_Silent_p.N105N|KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000416184.1_Silent_p.N105N	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687													A	51330300	G	A	51330300	2	1	356	1	0	0	0	0	0	0	0	1	8461	1136	40	1		1	KLK15	19	51330300	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	7060	51330300	7798683	61	23178											
LILRA2	11027	broad.mit.edu	37	chr19	55086781	55086781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatggtggcccccggggaGagcctgaccctccagtgtgt	5	8	14	14	1	0	2	0	1	0	1	1	3	1	2	6	4	1	0	6	4	1	1	rs144206436		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55086781G>A	ENST00000251377.3	+	6	847	c.714G>A	c.(712-714)gaG>gaA	p.E238E	LILRB1_ENST00000418536.2_Intron|LILRA2_ENST00000391738.3_Silent_p.E238E|LILRA2_ENST00000391737.1_Silent_p.E226E|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000251376.3_Silent_p.E238E|LILRB1_ENST00000396321.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2											breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CCCCCGGGGAGAGCCTGACCC	0.577													A	55086781	G	A	55086781	2	1	356	1	0	0	0	0	0	0	0	1	8845	933	33	2		2	LILRA2	19	55086781	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	3756481	55086781	4042202	62	23179											
PTPRH	5794	broad.mit.edu	37	chr19	55713502	55713502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaacacatacaaacaccCgggttcaagtctatccacgg	15	6	8	12	2	2	0	1	0	1	0	3	1	3	1	2	3	3	1	2	3	6	3	rs147691392	byFrequency	TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr19:55713502C>T	ENST00000376350.3	-	6	1097	c.1075G>A	c.(1075-1077)Ggg>Agg	p.G359R	PTPRH_ENST00000263434.5_Missense_Mutation_p.G181R|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	359	Fibronectin type-III 4.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		TACAAACACCCGGGTTCAAGT	0.542													T	55713502	C	T	55713502	3	4	356	1	0	0	0	0	1	0	0	0	12891	652	23	1	2332	1	PTPRH	19	55713502	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	626721	55713502	3415481	63	23180											
PROKR2	128674	broad.mit.edu	37	chr20	5283062	5283062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcttgcgaatctgctccGtctggaacccagggactgcc	6	8	12	15	3	2	0	0	0	2	0	3	3	3	2	4	2	4	2	4	2	2	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:5283062G>A	ENST00000546004.1	-	3	1025	c.779C>T	c.(778-780)aCg>aTg	p.T260M	PROKR2_ENST00000217270.3_Missense_Mutation_p.T260M			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	260						integral to membrane|plasma membrane	neuropeptide Y receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						AATCTGCTCCGTCTGGAACCC	0.607										HNSCC(71;0.22)			A	5283062	G	A	5283062	3	1	356	1	0	0	0	0	1	0	0	0	12639	1145	40	1	378	1	PROKR2	20	5283062	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08		5283062	57742458	64	23181											
SLC24A3	57419	broad.mit.edu	37	chr20	19701644	19701644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctgcaggtgttcggcGtccacctgaacaagtggcag	7	8	14	12	2	0	1	0	1	0	0	2	1	1	1	3	3	3	3	3	3	2	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:19701644G>A	ENST00000328041.6	+	17	1992	c.1795G>A	c.(1795-1797)Gtc>Atc	p.V599I		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	599						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGTGTTCGGCGTCCACCTGAA	0.607													A	19701644	G	A	19701644	3	1	356	1	0	0	0	0	1	0	0	0	14561	1145	40	1	1861	1	SLC24A3	20	19701644	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	14418582	19701644	43323876	65	23182											
ITCH	83737	broad.mit.edu	37	chr20	33068913	33068913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaaatgtacttctcCgttgacaaagaaattctagg	13	13	9	6	1	2	2	0	1	2	1	3	4	2	3	1	2	1	2	1	2	5	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:33068913C>T	ENST00000374864.4	+	20	2208	c.1995C>T	c.(1993-1995)tcC>tcT	p.S665S	ITCH_ENST00000535650.1_Silent_p.S555S|ITCH_ENST00000483727.1_3'UTR|ITCH_ENST00000262650.6_Silent_p.S706S	NM_001257137.1|NM_001257138.1|NM_031483.5	NP_001244066.1|NP_001244067.1|NP_113671.3	Q96J02	ITCH_HUMAN	itchy E3 ubiquitin protein ligase	706	HECT.				apoptosis|entry of virus into host cell|inflammatory response|innate immune response|negative regulation of apoptosis|negative regulation of defense response to virus|negative regulation of JNK cascade|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cell growth|regulation of protein deubiquitination|response to virus	cytosol|nucleus|plasma membrane	CXCR chemokine receptor binding|ribonucleoprotein binding|ubiquitin-protein ligase activity			NS(1)|breast(9)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(13)|skin(1)|upper_aerodigestive_tract(1)	36						TGTACTTCTCCGTTGACAAAG	0.313													T	33068913	C	T	33068913	2	4	356	1	0	0	0	0	0	0	0	1	7926	639	23	1		1	ITCH	20	33068913	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	13367269	33068913	29956607	66	23183											
PLCG1	5335	broad.mit.edu	37	chr20	39802384	39802384	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcgcttcgtggtgtatGaggaagacatgtttagtgac	8	14	13	6	2	1	3	0	2	1	1	2	4	1	4	0	2	1	3	0	2	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr20:39802384G>A	ENST00000373272.2	+	29	3892	c.3487G>A	c.(3487-3489)Gag>Aag	p.E1163K	PLCG1_ENST00000244007.3_Missense_Mutation_p.E1163K|PLCG1_ENST00000608689.1_3'UTR|PLCG1_ENST00000373271.1_Missense_Mutation_p.E1163K	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	1163	C2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CGTGGTGTATGAGGAAGACAT	0.517											OREG0025953	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39802384	G	A	39802384	3	1	356	1	0	0	0	0	1	0	0	0	12112	1291	45	2	3601	2	PLCG1	20	39802384	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	6733471	39802384	23223136	67	23184											
BAGE2	85319	broad.mit.edu	37	chr21	11039030	11039030	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcacacaaccctcaattGtaggagtcatttcagagtcc	11	12	6	12	0	4	1	4	0	0	1	5	2	5	2	2	1	1	1	2	1	3	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:11039030G>T	ENST00000470054.1	-	0	1173									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACCCTCAATTGTAGGAGTCAT	0.383													T	11039030	G	T	11039030	1	4	356	0	1	0	0	0	0	0	0	0	1297	1392	48	4		4	BAGE2	21	11039030	RNA	SNP	G	TCGA-DU-5852-01A-11D-1705-08		11039030	37090865	68	23185											
TTC3	7267	broad.mit.edu	37	chr21	38536430	38536430	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaagaattcgaagctcTctatgaccaacacagtaacg	15	9	8	9	2	1	3	0	1	1	2	3	4	1	3	1	0	3	3	1	0	7	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chr21:38536430T>G	ENST00000399017.2	+	32	5995	c.3248T>G	c.(3247-3249)cTc>cGc	p.L1083R	TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000355666.1_Missense_Mutation_p.L1083R|TTC3_ENST00000354749.2_Missense_Mutation_p.L1083R	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1083					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TTCGAAGCTCTCTATGACCAA	0.398													G	38536430	T	G	38536430	3	3	356	1	0	0	0	0	1	0	0	0	16799	1551	54	5	3370	5	TTC3	21	38536430	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	27497400	38536430	9593465	69	23186											
ACE2	59272	broad.mit.edu	37	chrX	15580079	15580079	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcctggattattttcTcctttgctaatatcgatgga	9	17	8	7	1	1	0	0	0	1	0	4	4	2	3	2	3	1	1	2	3	4	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:15580079T>C	ENST00000427411.1	-	19	2583	c.2367A>G	c.(2365-2367)ggA>ggG	p.G789G	ACE2_ENST00000471548.1_5'UTR|ACE2_ENST00000252519.3_Silent_p.G789G	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	789					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	GATTATTTTCTCCTTTGCTAA	0.323													C	15580079	T	C	15580079	2	2	356	1	0	0	0	0	0	0	0	1	137	1538	54	3		3	ACE2	23	15580079	Silent	SNP	T	TCGA-DU-5852-01A-11D-1705-08		15580079	139690481	70	23187											
FAM47C	442444	broad.mit.edu	37	chrX	37027911	37027911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgtcccatctctgcccGgagcctccagagaaggacgt	8	7	13	13	2	1	1	0	0	1	1	4	5	3	4	4	3	2	0	4	3	1	0			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:37027911G>A	ENST00000358047.3	+	1	1480	c.1428G>A	c.(1426-1428)ccG>ccA	p.P476P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	476										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAGCCTCCAG	0.622													A	37027911	G	A	37027911	2	1	356	1	0	0	0	0	0	0	0	1	5622	1103	39	1		1	FAM47C	23	37027911	Silent	SNP	G	TCGA-DU-5852-01A-11D-1705-08	21447832	37027911	118242649	71	23188											
CACNA1F	778	broad.mit.edu	37	chrX	49088176	49088176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcaggaccgtcgcagaGgattggccagggtgaggcag	9	6	18	8	2	0	3	0	2	0	1	1	5	0	5	2	5	1	3	2	5	0	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:49088176G>A	ENST00000376265.2	-	2	300	c.239C>T	c.(238-240)cCt>cTt	p.P80L	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Missense_Mutation_p.P80L	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	80					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCGTCGCAGAGGATTGGCCAG	0.602													A	49088176	G	A	49088176	3	1	356	1	0	0	0	0	1	0	0	0	2569	1000	35	2	5882	2	CACNA1F	23	49088176	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	12060265	49088176	106182384	72	23189											
NLGN3	54413	broad.mit.edu	37	chrX	70389237	70389237	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggctgaaaccaagggtcCgagatcattaccgggccact	10	7	12	12	3	1	2	1	1	0	1	3	3	2	2	4	3	2	1	4	3	3	1			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:70389237C>T	ENST00000374051.3	+	7	2099	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000536169.1_Nonsense_Mutation_p.R573*|NLGN3_ENST00000358741.3_Nonsense_Mutation_p.R613*	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	613					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACCAAGGGTCCGAGATCATTA	0.527													T	70389237	C	T	70389237	4	4	356	1	0	0	0	0	0	1	0	0	10539	644	23	1	1863	1	NLGN3	23	70389237	Nonsense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	21301061	70389237	84881323	73	23190											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177201	89177201	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcgagaaataacgcagaTacaggcagagttcttgcctt	13	10	10	8	2	1	3	0	0	1	3	2	4	1	3	1	1	3	3	1	1	3	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:89177201T>A	ENST00000561129.2	+	1	247	c.117T>A	c.(115-117)gaT>gaA	p.D39E	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.D39E			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	39						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						ATAACGCAGATACAGGCAGAG	0.547													A	89177201	T	A	89177201	3	1	356	1	0	0	0	0	1	0	0	0	15927	1403	49	5	119	5	TGIF2LX	23	89177201	Missense_Mutation	SNP	T	TCGA-DU-5852-01A-11D-1705-08	18787964	89177201	66093359	74	23191											
PCDH11X	27328	broad.mit.edu	37	chrX	91090535	91090535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgggacgtacattttcgCggtcctgctagcatgcgtgg	5	11	14	11	5	0	0	0	0	0	0	3	1	2	1	2	3	4	3	2	3	2	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91090535C>T	ENST00000373094.1	+	1	877	c.32C>T	c.(31-33)gCg>gTg	p.A11V	PCDH11X_ENST00000373097.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000504220.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000373088.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000395337.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000361724.1_Missense_Mutation_p.A11V|PCDH11X_ENST00000361655.2_Missense_Mutation_p.A11V|PCDH11X_ENST00000298274.8_Missense_Mutation_p.A11V|PCDH11X_ENST00000406881.1_Missense_Mutation_p.A11V	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	11					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TACATTTTCGCGGTCCTGCTA	0.493													T	91090535	C	T	91090535	3	4	356	1	0	0	0	0	1	0	0	0	11584	768	27	1	34	1	PCDH11X	23	91090535	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	1913334	91090535	64180025	75	23192											
PCDH11X	27328	broad.mit.edu	37	chrX	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggcaccataactgtcGttgtagttattttcatcact	8	17	7	9	1	2	0	2	0	0	0	3	0	2	0	1	1	2	5	1	1	3	7			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463													A	91133712	G	A	91133712	3	1	356	1	0	0	0	0	1	0	0	0	11584	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	43177	91133712	64136848	76	23193											
BTK	695	broad.mit.edu	37	chrX	100613413	100613413	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaacataatgacgtatcacCccttgagggtccctgaagaa	14	8	8	11	1	1	4	1	3	0	1	2	4	2	4	3	1	1	1	3	1	5	3			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:100613413C>A	ENST00000308731.7	-	12	1150	c.987G>T	c.(985-987)ggG>ggT	p.G329G	BTK_ENST00000372880.1_Silent_p.G329G	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	329	SH2.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GACGTATCACCCCTTGAGGGT	0.473									Agammaglobulinemia, X-linked				A	100613413	C	A	100613413	2	1	356	1	0	0	0	0	0	0	0	1	1567	610	22	4		4	BTK	23	100613413	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	9479701	100613413	54657147	77	23194											
GPRASP1	9737	broad.mit.edu	37	chrX	101909474	101909474	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagatgaggtcactgcAaaatttcatcctgggaatag	13	10	12	6	0	2	2	2	1	0	1	3	4	3	3	1	3	1	1	1	3	4	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:101909474A>G	ENST00000537097.1	+	6	1446	c.633A>G	c.(631-633)gcA>gcG	p.A211A	GPRASP1_ENST00000361600.5_Silent_p.A211A|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Silent_p.A211A|GPRASP1_ENST00000444152.1_Silent_p.A211A	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	211						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGTCACTGCAAAATTTCATC	0.443													G	101909474	A	G	101909474	2	3	356	1	0	0	0	0	0	0	0	1	6777	117	5	3		3	GPRASP1	23	101909474	Silent	SNP	A	TCGA-DU-5852-01A-11D-1705-08	1296061	101909474	53361086	78	23195											
OCRL	4952	broad.mit.edu	37	chrX	128692669	128692669	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaagaaaataaattcaCaaaatcagcctactgggatt	18	9	7	7	0	2	1	2	0	0	1	2	3	2	3	1	2	2	0	1	2	8	4			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:128692669C>A	ENST00000371113.4	+	7	664	c.499C>A	c.(499-501)Caa>Aaa	p.Q167K	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.Q167K	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	167					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						AATAAATTCACAAAATCAGCC	0.393													A	128692669	C	A	128692669	3	1	356	1	0	0	0	0	1	0	0	0	10899	479	17	4	525	4	OCRL	23	128692669	Missense_Mutation	SNP	C	TCGA-DU-5852-01A-11D-1705-08	26783195	128692669	26577891	79	23196											
SLC9A6	10479	broad.mit.edu	37	chrX	135112296	135112296	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctttctcctttagggttgGtgttgattcagaccaagaac	8	15	10	8	0	3	3	1	1	2	2	4	3	3	3	2	2	1	2	2	2	3	6			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135112296G>C	ENST00000370695.4	+	13	1657	c.1622G>C	c.(1621-1623)gGt>gCt	p.G541A	SLC9A6_ENST00000370698.3_Missense_Mutation_p.G509A|SLC9A6_ENST00000370701.1_Missense_Mutation_p.G489A	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	509					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TTTAGGGTTGGTGTTGATTCA	0.358													C	135112296	G	C	135112296	3	2	356	1	0	0	0	0	1	0	0	0	14812	1261	44	4	1672	4	SLC9A6	23	135112296	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	6419627	135112296	20158264	80	23197											
GPR112	139378	broad.mit.edu	37	chrX	135405491	135405491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggaaatatagttagttggGaagaagacgtctggcttgtc	12	12	13	4	1	1	2	0	0	1	2	2	4	1	4	0	3	0	3	0	3	6	5			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:135405491G>A	ENST00000394143.1	+	5	916	c.625G>A	c.(625-627)Gaa>Aaa	p.E209K	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.E209K|GPR112_ENST00000287534.4_Missense_Mutation_p.E146K|GPR112_ENST00000394141.1_Intron	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	209					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AGTTAGTTGGGAAGAAGACGT	0.438													A	135405491	G	A	135405491	3	1	356	1	0	0	0	0	1	0	0	0	6683	1175	41	2	631	2	GPR112	23	135405491	Missense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	293195	135405491	19865069	81	23198											
SPANXN1	494118	broad.mit.edu	37	chrX	144337223	144337223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacagggacttagccccCgaaccgagtttgaaaaagat	15	6	9	11	2	0	2	0	1	0	1	0	5	0	3	4	1	3	1	4	1	5	2			TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:144337223C>T	ENST00000370493.3	+	2	867	c.108C>T	c.(106-108)ccC>ccT	p.P36P		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	36										endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ACTTAGCCCCCGAACCGAGTT	0.403													T	144337223	C	T	144337223	2	4	356	1	0	0	0	0	0	0	0	1	15086	639	23	1		1	SPANXN1	23	144337223	Silent	SNP	C	TCGA-DU-5852-01A-11D-1705-08	8931732	144337223	10933337	82	23199											
F8	2157	broad.mit.edu	37	chrX	154065952	154065952	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaactctgggggtgaattcGaaggtagcgagtcagtaacg	11	8	14	8	3	2	1	1	1	1	0	3	3	2	1	1	3	3	2	1	3	5	3	rs137852354		TCGA-DU-5852-01A-11D-1705-08	TCGA-DU-5852-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c81bf20-05e8-4fae-8585-c192e8084231	f1c56802-8ab9-48c7-856a-af4aac8aebe7	g.chrX:154065952G>A	ENST00000360256.4	-	26	7176	c.6976C>T	c.(6976-6978)Cga>Tga	p.R2326*	F8_ENST00000330287.6_Nonsense_Mutation_p.R191*	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2326	F5/8 type C 2.		R -> G (in HEMA).|R -> L (in HEMA; severe/moderate; may cause reduced phospholipid binding).|R -> P (in HEMA; severe sporadic).|R -> Q (in HEMA; moderate/mild; may cause reduced phospholipid binding).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GGGTGAATTCGAAGGTAGCGA	0.527													A	154065952	G	A	154065952	4	1	356	1	0	0	0	0	0	1	0	0	5392	1066	37	1	83	1	F8	23	154065952	Nonsense_Mutation	SNP	G	TCGA-DU-5852-01A-11D-1705-08	9728729	154065952	1204608	83	23200											
PGM1	5236	broad.mit.edu	37	chr1	64100510	64100510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatatagttgtgggaccGtatgtaaagaagatcctctg	11	13	11	6	1	1	2	0	0	1	2	2	3	2	3	2	1	0	4	2	1	7	6			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:64100510G>A	ENST00000371083.4	+	5	1115	c.747G>A	c.(745-747)ccG>ccA	p.P249P	PGM1_ENST00000540265.1_Silent_p.P34P|PGM1_ENST00000371084.3_Silent_p.P231P	NM_001172818.1	NP_001166289.1	P36871	PGM1_HUMAN	phosphoglucomutase 1	231					cellular calcium ion homeostasis|galactose catabolic process|glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TTGTGGGACCGTATGTAAAGA	0.473													A	64100510	G	A	64100510	2	1	357	1	0	0	0	0	0	0	0	1	11874	1132	40	1		1	PGM1	1	64100510	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		64100510	185150111	1	23201											
DCST1	149095	broad.mit.edu	37	chr1	155013046	155013046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagatcaacaacacccgCgcagcttggcgcatctccac	10	6	8	17	3	2	1	1	0	1	1	3	1	2	1	2	1	4	4	2	1	2	1	rs141235792		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr1:155013046C>T	ENST00000295542.1	+	6	573	c.477C>T	c.(475-477)cgC>cgT	p.R159R	DCST1_ENST00000423025.2_Silent_p.R134R|DCST1_ENST00000392480.1_Silent_p.R159R|DCST1_ENST00000368419.2_Silent_p.R159R	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	159						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			ACAACACCCGCGCAGCTTGGC	0.617													T	155013046	C	T	155013046	2	4	357	1	0	0	0	0	0	0	0	1	4336	755	27	1		1	DCST1	1	155013046	Silent	SNP	C	TCGA-DU-5853-01A-11D-1893-08	90912536	155013046	94237575	2	23202											
SEMA4F	10505	broad.mit.edu	37	chr2	74901749	74901749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggatgttgctgtgcttcGacctgagcttggggcaggga	6	10	17	8	1	0	1	0	1	0	0	1	4	0	3	1	4	3	6	1	4	0	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:74901749G>A	ENST00000357877.2	+	8	1096	c.947G>A	c.(946-948)cGa>cAa	p.R316Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R161Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	316	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						GCTGTGCTTCGACCTGAGCTT	0.562													A	74901749	G	A	74901749	3	1	357	1	0	0	0	0	1	0	0	0	14128	1058	37	1	977	1	SEMA4F	2	74901749	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		74901749	168297624	3	23203											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	357	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08	134211363	209113112	34086261	4	23204											
GIGYF2	26058	broad.mit.edu	37	chr2	233655736	233655736	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaagtacagaaagagcctAttccagaagagcaggagatg	18	5	12	6	0	0	6	0	0	0	6	1	7	1	6	2	1	3	2	2	1	5	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr2:233655736A>G	ENST00000373566.3	+	12	1212	c.1015A>G	c.(1015-1017)Att>Gtt	p.I339V	GIGYF2_ENST00000409480.1_Missense_Mutation_p.I339V|GIGYF2_ENST00000409451.3_Missense_Mutation_p.I339V|GIGYF2_ENST00000409547.1_Missense_Mutation_p.I317V|GIGYF2_ENST00000452341.2_Missense_Mutation_p.I148V|GIGYF2_ENST00000373563.4_Missense_Mutation_p.I317V|GIGYF2_ENST00000409196.3_Missense_Mutation_p.I311V			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	317					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAAGAGCCTATTCCAGAAGA	0.443													G	233655736	A	G	233655736	3	3	357	1	0	0	0	0	1	0	0	0	6434	449	16	3	1053	3	GIGYF2	2	233655736	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08	24542624	233655736	9543637	5	23205											
SCN10A	6336	broad.mit.edu	37	chr3	38793869	38793869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagcagagagccccgatgGctttcgtggtctccaggaaa	10	7	13	11	2	1	1	0	0	1	1	3	4	1	2	3	3	3	3	3	3	1	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:38793869G>T	ENST00000449082.2	-	11	1595	c.1596C>A	c.(1594-1596)agC>agA	p.S532R		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	532					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGCCCCGATGGCTTTCGTGGT	0.602													T	38793869	G	T	38793869	3	4	357	1	0	0	0	0	1	0	0	0	14005	1194	42	4	4342	4	SCN10A	3	38793869	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		38793869	159228561	6	23206											
CD200	4345	broad.mit.edu	37	chr3	112064083	112064083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtgttacatgtgtctcttCaatacctttggttttgggaa	7	17	11	6	0	2	0	1	0	1	0	3	1	2	1	1	3	2	2	1	3	4	6			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr3:112064083C>T	ENST00000315711.8	+	3	426	c.369C>T	c.(367-369)ttC>ttT	p.F123F	CD200_ENST00000383681.3_Silent_p.F49F|CD200_ENST00000473539.1_Silent_p.F148F	NM_005944.5	NP_005935.4	P41217	OX2G_HUMAN	CD200 molecule	123	Ig-like V-type.				regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				TGTGTCTCTTCAATACCTTTG	0.443													T	112064083	C	T	112064083	2	4	357	1	0	0	0	0	0	0	0	1	3010	825	29	2		2	CD200	3	112064083	Silent	SNP	C	TCGA-DU-5853-01A-11D-1893-08	73270214	112064083	85958347	7	23207											
KIT	3815	broad.mit.edu	37	chr4	55561801	55561801	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcactgatccgggctttgTcaaatggacttttgagatcc	9	13	10	9	1	1	2	1	2	0	1	3	4	3	3	2	2	1	2	2	2	1	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr4:55561801T>G	ENST00000288135.5	+	2	288	c.191T>G	c.(190-192)gTc>gGc	p.V64G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	64	Ig-like C2-type 1.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CCGGGCTTTGTCAAATGGACT	0.493		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G	55561801	T	G	55561801	3	3	357	1	0	0	0	0	1	0	0	0	8387	1667	58	5	197	5	KIT	4	55561801	Missense_Mutation	SNP	T	TCGA-DU-5853-01A-11D-1893-08		55561801	135592475	8	23208											
PCDHGB1	56104	broad.mit.edu	37	chr5	140730818	140730818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctcactgtaatgttcaaAtagaaattgttgacgagaat	15	12	8	6	1	2	3	2	1	0	2	2	4	2	3	0	0	1	4	0	0	5	5			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr5:140730818A>G	ENST00000523390.1	+	1	991	c.991A>G	c.(991-993)Ata>Gta	p.I331V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018922.2|NM_032095.1	NP_061745.1|NP_115266.1														central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAATGTTCAAATAGAAATTGT	0.428													G	140730818	A	G	140730818	3	3	357	1	0	0	0	0	1	0	0	0	11638	101	4	3	993	3	PCDHGB1	5	140730818	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08		140730818	40184442	9	23209											
GPR31	2853	broad.mit.edu	37	chr6	167570606	167570606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaggactctggccaggaaGcagggcagaaagcacagagc	14	3	14	10	0	2	2	1	0	1	2	2	4	2	4	1	4	3	3	1	4	2	0			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167570606G>A	ENST00000366834.1	-	1	1211	c.714C>T	c.(712-714)tgC>tgT	p.C238C		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	238						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		TGGCCAGGAAGCAGGGCAGAA	0.592													A	167570606	G	A	167570606	2	1	357	1	0	0	0	0	0	0	0	1	6741	963	34	2		2	GPR31	6	167570606	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		167570606	3544461	10	23210											
UNC93A	54346	broad.mit.edu	37	chr6	167717405	167717405	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttgctatgtcctttcAgggagtggtgtcctggctgt	4	15	13	9	0	1	0	1	0	0	0	3	1	3	1	3	3	2	2	3	3	1	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr6:167717405A>G	ENST00000230256.3	+	5	800		c.e5-1		UNC93A_ENST00000366829.2_Splice_Site	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)							integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ATGTCCTTTCAGGGAGTGGTG	0.537													G	167717405	A	G	167717405	5	3	357	1	0	0	0	0	0	0	1	0	17098	202	7	3	642	3	UNC93A	6	167717405	Splice_Site	SNP	A	TCGA-DU-5853-01A-11D-1893-08	146799	167717405	3397662	11	23211											
NOS3	4846	broad.mit.edu	37	chr7	150693876	150693876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcccaggcccacgaacagCggcttcaagaggtggaagcc	10	4	13	14	2	1	1	1	0	0	1	2	3	2	2	3	4	3	2	3	4	3	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr7:150693876C>T	ENST00000297494.3	+	5	802	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	NOS3_ENST00000467517.1_Missense_Mutation_p.R149W|NOS3_ENST00000484524.1_Missense_Mutation_p.R149W|NOS3_ENST00000461406.1_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	149	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	p.R149R(1)		NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CCACGAACAGCGGCTTCAAGA	0.657													T	150693876	C	T	150693876	3	4	357	1	0	0	0	0	1	0	0	0	10620	759	27	1	459	1	NOS3	7	150693876	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		150693876	8444787	12	23212											
KIAA1429	25962	broad.mit.edu	37	chr8	95523837	95523837	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccccatgttgacatggAgcctccaaggctgagtcaga	10	9	11	11	0	1	3	1	2	0	1	3	4	3	4	4	2	1	2	4	2	2	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr8:95523837A>G	ENST00000297591.5	-	13	3041	c.2966T>C	c.(2965-2967)cTc>cCc	p.L989P	KIAA1429_ENST00000437199.1_Missense_Mutation_p.L989P|KIAA1429_ENST00000421249.2_Missense_Mutation_p.L989P	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	989					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GTTGACATGGAGCCTCCAAGG	0.428													G	95523837	A	G	95523837	3	3	357	1	0	0	0	0	1	0	0	0	8289	304	11	3	2574	3	KIAA1429	8	95523837	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08		95523837	50840185	13	23213											
FAM178A	55719	broad.mit.edu	37	chr10	102683830	102683830	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatgataccaaaagcaagaGagtccttccttgagaagcgt	14	9	9	9	1	0	3	0	2	0	2	2	5	2	3	3	0	3	1	3	0	6	4			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr10:102683830G>C	ENST00000238961.4	+	5	1614	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	FAM178A_ENST00000370271.3_Missense_Mutation_p.E358Q|FAM178A_ENST00000370269.3_Missense_Mutation_p.E358Q	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		AAAAGCAAGAGAGTCCTTCCT	0.398													C	102683830	G	C	102683830	3	2	357	1	0	0	0	0	1	0	0	0	5548	943	33	4	1090	4	FAM178A	10	102683830	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		102683830	32850917	14	23214											
UCP3	7352	broad.mit.edu	37	chr11	73714925	73714925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatctttatcatacagtcGagggggctgaagtactggcc	10	10	11	10	1	2	1	1	1	1	0	3	2	2	1	2	3	2	2	2	3	4	4			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr11:73714925G>A	ENST00000314032.4	-	6	1323	c.771C>T	c.(769-771)ctC>ctT	p.L257L	UCP3_ENST00000426995.2_Silent_p.L257L|UCP3_ENST00000348534.4_Silent_p.L155L	NM_003356.3	NP_003347.1	P55916	UCP3_HUMAN	uncoupling protein 3 (mitochondrial, proton carrier)	257					mitochondrial transport|respiratory electron transport chain|respiratory gaseous exchange	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12	Breast(11;2.08e-05)					TCATACAGTCGAGGGGGCTGA	0.617													A	73714925	G	A	73714925	2	1	357	1	0	0	0	0	0	0	0	1	17034	1045	37	1		1	UCP3	11	73714925	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08		73714925	61291591	15	23215											
KRT8	3856	broad.mit.edu	37	chr12	53293635	53293635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagatctcagtctttgtgCgccgcaggtcatccccgtgc	6	10	11	14	3	3	1	2	0	2	1	5	2	4	1	3	1	2	1	3	1	0	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:53293635C>T	ENST00000552551.1	-	6	1337	c.905G>A	c.(904-906)cGc>cAc	p.R302H	KRT8_ENST00000546897.1_Missense_Mutation_p.R302H|KRT8_ENST00000552150.1_Missense_Mutation_p.R330H|KRT8_ENST00000293308.6_Missense_Mutation_p.R302H			P05787	K2C8_HUMAN	keratin 8	302	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGTCTTTGTGCGCCGCAGGTC	0.602													T	53293635	C	T	53293635	3	4	357	1	0	0	0	0	1	0	0	0	8551	768	27	1	562	1	KRT8	12	53293635	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		53293635	80558260	16	23216											
ATP5B	506	broad.mit.edu	37	chr12	57036472	57036472	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttacctctgaaccagcctgGgtgaagcgaaagatgttatc	11	10	10	10	1	1	3	0	2	1	1	2	4	1	3	3	1	4	1	3	1	5	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:57036472G>C	ENST00000262030.3	-	6	986	c.936C>G	c.(934-936)acC>acG	p.T312T	ATP5B_ENST00000550162.1_5'UTR|ATP5B_ENST00000552919.1_Intron	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	312					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AACCAGCCTGGGTGAAGCGAA	0.483													C	57036472	G	C	57036472	2	2	357	1	0	0	0	0	0	0	0	1	1153	1219	43	4		4	ATP5B	12	57036472	Silent	SNP	G	TCGA-DU-5853-01A-11D-1893-08	3742837	57036472	76815423	17	23217											
SLC5A8	160728	broad.mit.edu	37	chr12	101577979	101577979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggataatcttgcagaatgtCcagtaccaaataaggcatga	15	10	9	7	0	1	2	0	1	1	1	2	3	2	3	2	2	2	3	2	2	5	4			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr12:101577979C>A	ENST00000536262.2	-	8	1543	c.985G>T	c.(985-987)Gac>Tac	p.D329Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	329					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	p.D329N(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGCAGAATGTCCAGTACCAAA	0.348													A	101577979	C	A	101577979	3	1	357	1	0	0	0	0	1	0	0	0	14765	855	30	4	879	4	SLC5A8	12	101577979	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08	44541507	101577979	32273916	18	23218											
SERPINA9	327657	broad.mit.edu	37	chr14	94929626	94929626	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatccagcacagccttgTgggttgcctgccaagggaaa	10	8	12	11	0	0	1	0	1	0	0	1	2	1	2	4	2	4	2	4	2	2	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr14:94929626T>A	ENST00000337425.5	-	5	1186	c.1112A>T	c.(1111-1113)cAc>cTc	p.H371L	SERPINA9_ENST00000298845.7_Missense_Mutation_p.H271L|SERPINA9_ENST00000448305.2_Missense_Mutation_p.H273L|SERPINA9_ENST00000380365.3_Missense_Mutation_p.H353L|RP11-349I1.2_ENST00000536735.1_RNA|SERPINA9_ENST00000424550.2_Missense_Mutation_p.H222L	NM_175739.3	NP_783866.2	Q86WD7	SPA9_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 9	353				T -> A (in Ref. 1; AAO65242).	regulation of proteolysis	cytoplasm|extracellular region|membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(17)	21		all_cancers(154;0.0691)|all_epithelial(191;0.233)		Epithelial(152;0.144)|COAD - Colon adenocarcinoma(157;0.224)|all cancers(159;0.24)		CACAGCCTTGTGGGTTGCCTG	0.502													A	94929626	T	A	94929626	3	1	357	1	0	0	0	0	1	0	0	0	14188	1696	59	5	199	5	SERPINA9	14	94929626	Missense_Mutation	SNP	T	TCGA-DU-5853-01A-11D-1893-08		94929626	12419914	19	23219											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	357	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08		7577121	73618089	20	23220											
CHAD	1101	broad.mit.edu	37	chr17	48543081	48543081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccgccgaaggccccGgagctggcaggtacacttcc	7	8	11	15	3	1	0	0	0	1	0	2	2	2	1	5	4	3	3	5	4	3	4	rs138200891		TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:48543081G>A	ENST00000508540.1	-	2	1077	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	ACSF2_ENST00000502667.1_Intron|ACSF2_ENST00000504392.1_Intron|CHAD_ENST00000258969.4_Missense_Mutation_p.R309W|ACSF2_ENST00000541920.1_Intron|ACSF2_ENST00000300441.4_Intron|ACSF2_ENST00000427954.2_Intron	NM_001267.2	NP_001258.2	O15335	CHAD_HUMAN	chondroadherin	309	LRRCT.				regulation of cell growth	proteinaceous extracellular matrix	extracellular matrix structural constituent			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(2)|ovary(2)	15	Breast(11;1.93e-18)		BRCA - Breast invasive adenocarcinoma(22;1.55e-09)			CGAAGGCCCCGGAGCTGGCAG	0.562													A	48543081	G	A	48543081	3	1	357	1	0	0	0	0	1	0	0	0	3340	1115	39	1	162	1	CHAD	17	48543081	Missense_Mutation	SNP	G	TCGA-DU-5853-01A-11D-1893-08	40965960	48543081	32652129	21	23221											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								-	62500102	ACAG	-	62500099	8	5	357	1	0	1	0	1	0	0	1	0	4401	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-DU-5853-01A-11D-1893-08	13957018	62500099	18695111	22	23222											
MUC16	94025	broad.mit.edu	37	chr19	9046747	9046747	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgaggtcactaccccTggtatactgggtgggatggt	7	11	14	9	0	1	1	1	1	0	0	1	2	1	2	3	5	2	1	3	5	3	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:9046747T>A	ENST00000397910.4	-	5	35087	c.34884A>T	c.(34882-34884)ccA>ccT	p.P11628P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11630	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						TCACTACCCCTGGTATACTGG	0.512													A	9046747	T	A	9046747	2	1	357	1	0	0	0	0	0	0	0	1	10049	1567	55	5		5	MUC16	19	9046747	Silent	SNP	T	TCGA-DU-5853-01A-11D-1893-08		9046747	50082236	23	23223											
PSG7	5676	broad.mit.edu	37	chr19	43439742	43439742	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgaccgtctactatatAtgatgtaacataatggtaga	14	15	7	5	1	1	3	0	2	1	1	1	3	1	3	1	1	2	2	1	1	8	9			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:43439742A>G	ENST00000406070.2	-	0	340				PSG7_ENST00000446844.3_RNA	NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TCTACTATATATGATGTAACA	0.418													G	43439742	A	G	43439742	1	3	357	0	1	0	0	0	0	0	0	0	12745	449	16	3		3	PSG7	19	43439742	RNA	SNP	A	TCGA-DU-5853-01A-11D-1893-08	34392995	43439742	15689241	24	23224											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628865	51628865	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaccagccttgacccacAggcccaacatcctcatccca	10	7	4	20	0	2	1	2	1	0	0	4	1	4	1	6	1	2	0	6	1	1	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr19:51628865A>T	ENST00000440804.3	+	2	500	c.433A>T	c.(433-435)Agg>Tgg	p.R145W	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R145W	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	145					cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		CTTGACCCACAGGCCCAACAT	0.642													T	51628865	A	T	51628865	3	4	357	1	0	0	0	0	1	0	0	0	14409	179	7	5	439	5	SIGLEC9	19	51628865	Missense_Mutation	SNP	A	TCGA-DU-5853-01A-11D-1893-08	8189123	51628865	7500118	25	23225											
NKX2-2	4821	broad.mit.edu	37	chr20	21492966	21492966	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccgctccagctcgtaggtCtgcgccttggagaaaagcac	8	7	12	14	4	1	1	0	0	1	1	3	2	2	1	3	2	3	4	3	2	3	2			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr20:21492966C>G	ENST00000377142.4	-	2	773	c.417G>C	c.(415-417)caG>caC	p.Q139H		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	139					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTCGTAGGTCTGCGCCTTGG	0.692													G	21492966	C	G	21492966	3	3	357	1	0	0	0	0	1	0	0	0	10526	912	32	4	408	4	NKX2-2	20	21492966	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		21492966	41532554	26	23226											
COL6A1	1291	broad.mit.edu	37	chr21	47409674	47409674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggtgtgtagggagaaaaAgggagccgtggggagaaggt	11	6	21	3	1	0	2	0	0	0	2	0	5	0	3	1	6	1	1	1	6	4	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637													G	47409674	A	G	47409674	2	3	357	1	0	0	0	0	0	0	0	1	3730	69	3	3		3	COL6A1	21	47409674	Silent	SNP	A	TCGA-DU-5853-01A-11D-1893-08		47409674	720221	27	23227											
PATZ1	23598	broad.mit.edu	37	chr22	31740738	31740738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgcctccctcaggcccCctggggacccaaacattgag	7	7	10	17	0	1	1	1	1	0	0	2	2	2	2	6	3	3	0	6	3	1	1			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chr22:31740738C>T	ENST00000266269.5	-	1	1480	c.851G>A	c.(850-852)gGg>gAg	p.G284E	PATZ1_ENST00000405309.3_Missense_Mutation_p.G284E|PATZ1_ENST00000351933.4_Missense_Mutation_p.G284E|PATZ1_ENST00000215919.3_Missense_Mutation_p.G284E	NM_014323.2	NP_055138.2	Q9HBE1	PATZ1_HUMAN	POZ (BTB) and AT hook containing zinc finger 1	284					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		EWSR1/PATZ1(2)	NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	12						CCTCAGGCCCCCTGGGGACCC	0.652													T	31740738	C	T	31740738	3	4	357	1	0	0	0	0	1	0	0	0	11552	623	22	2	1515	2	PATZ1	22	31740738	Missense_Mutation	SNP	C	TCGA-DU-5853-01A-11D-1893-08		31740738	19563828	28	23228											
ATRX	546	broad.mit.edu	37	chrX	76845411	76845411	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactggctgaaaacaaggCtaaaaaaacagattagtgtt	17	8	11	5	0	0	2	0	1	0	1	0	3	0	3	0	3	2	3	0	3	8	3			TCGA-DU-5853-01A-11D-1893-08	TCGA-DU-5853-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0750c06c-d62b-42d9-804a-a9b9d76b90ed	fb0e600b-10e0-43fb-b877-0981c762da9b	g.chrX:76845411C>T	ENST00000373344.5	-	27	6325		c.e27-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	GAAAACAAGGCTAAAAAAACA	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76845411	C	T	76845411	5	4	357	1	0	0	0	0	0	0	1	0	1213	811	28	2	1404	2	ATRX	23	76845411	Splice_Site	SNP	C	TCGA-DU-5853-01A-11D-1893-08		76845411	78425149	29	23229											
C1orf158	93190	broad.mit.edu	37	chr1	12820859	12820859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccggtccctccccatcGcctgcatcctttcccacact	4	10	6	21	2	0	0	0	0	0	0	6	0	5	0	7	2	1	1	7	2	0	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:12820859G>A	ENST00000288048.5	+	4	776	c.560G>A	c.(559-561)cGc>cAc	p.R187H	C1orf158_ENST00000376210.3_Missense_Mutation_p.R149H	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	187								p.R187P(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCCATCGCCTGCATCCT	0.577													A	12820859	G	A	12820859	3	1	358	1	0	0	0	0	1	0	0	0	2027	1087	38	1	574	1	C1orf158	1	12820859	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		12820859	236429762	1	23230											
EDN2	1907	broad.mit.edu	37	chr1	41948222	41948222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggagcggcgccggcGtcttggcgggtttcccaggc	3	7	19	12	5	1	0	0	0	1	0	2	1	2	1	2	7	1	2	2	7	0	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:41948222G>A	ENST00000372587.4	-	3	328	c.259C>T	c.(259-261)Cgc>Tgc	p.R87C	EDN2_ENST00000490783.1_5'UTR	NM_001956.3	NP_001947.1	P20800	EDN2_HUMAN	endothelin 2	87					artery smooth muscle contraction|calcium-mediated signaling|cytokine-mediated signaling pathway|elevation of cytosolic calcium ion concentration|hormonal regulation of the force of heart contraction|inositol phosphate-mediated signaling|macrophage activation|macrophage chemotaxis|neutrophil chemotaxis|positive regulation of cell proliferation|positive regulation of heart rate|positive regulation of leukocyte chemotaxis|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of the force of heart contraction by chemical signal|prostaglandin biosynthetic process|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	extracellular space	endothelin B receptor binding|hormone activity			endometrium(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCGCCGGCGTCTTGGCGGG	0.642													A	41948222	G	A	41948222	3	1	358	1	0	0	0	0	1	0	0	0	4956	1145	40	1	289	1	EDN2	1	41948222	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	29127363	41948222	207302399	2	23231											
SNX7	51375	broad.mit.edu	37	chr1	99157205	99157205	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accgaattgctgatcatccaActttaacatttaatgaagac	15	12	5	9	1	1	3	1	2	0	1	2	4	2	3	2	0	3	1	2	0	5	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:99157205A>G	ENST00000370189.5	+	5	761	c.397A>G	c.(397-399)Act>Gct	p.T133A	SNX7_ENST00000306121.3_Missense_Mutation_p.T197A|SNX7_ENST00000529992.1_Intron			Q9UNH6	SNX7_HUMAN	sorting nexin 7	133	PX.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		TGATCATCCAACTTTAACATT	0.328													G	99157205	A	G	99157205	3	3	358	1	0	0	0	0	1	0	0	0	15001	43	2	3	603	3	SNX7	1	99157205	Missense_Mutation	SNP	A	TCGA-DU-5854-01A-11D-1705-08	57208983	99157205	150093416	3	23232											
OR10J3	441911	broad.mit.edu	37	chr1	159283478	159283478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattagtacatatttataaaCgcaaaggaaaagccttcaca	19	10	5	7	1	1	0	1	0	0	0	1	1	1	1	1	1	3	2	1	1	10	7			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:159283478C>T	ENST00000332217.5	-	1	971	c.972G>A	c.(970-972)gcG>gcA	p.A324A		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A324A(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TATTTATAAACGCAAAGGAAA	0.398													T	159283478	C	T	159283478	2	4	358	1	0	0	0	0	0	0	0	1	10987	523	19	1		1	OR10J3	1	159283478	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	60126273	159283478	89967143	4	23233											
SLC45A3	85414	broad.mit.edu	37	chr1	205628648	205628648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagaggccccgcagagcGcgggtggaggtgggagcagg	8	2	22	9	3	0	2	0	0	0	2	0	4	0	4	2	7	2	3	2	7	0	0	rs140263007	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:205628648G>A	ENST00000367145.3	-	5	1671	c.1376C>T	c.(1375-1377)gCg>gTg	p.A459V	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCGCAGAGCGCGGGTGGAGG	0.677			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	205628648	G	A	205628648	3	1	358	1	0	0	0	0	1	0	0	0	14736	1087	38	1	289	1	SLC45A3	1	205628648	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	46345170	205628648	43621973	5	23234											
HEATR1	55127	broad.mit.edu	37	chr1	236766587	236766587	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tttggtctgaacacttcgctCcaaggtttttgctagctgac	7	15	9	10	1	1	2	0	2	1	0	3	2	2	2	1	2	3	4	1	2	3	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:236766587C>G	ENST00000366582.3	-	3	346	c.232G>C	c.(232-234)Gag>Cag	p.E78Q	HEATR1_ENST00000366581.2_Missense_Mutation_p.E78Q|HEATR1_ENST00000366579.1_Missense_Mutation_p.E78Q	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	78					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			ACACTTCGCTCCAAGGTTTTT	0.418													G	236766587	C	G	236766587	3	3	358	1	0	0	0	0	1	0	0	0	7082	864	30	4	6374	4	HEATR1	1	236766587	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	31137939	236766587	12484034	6	23235											
OR2L8	391190	broad.mit.edu	37	chr1	248112581	248112581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcaaaagagtgtgtgTgctgatgataacagggtctt	12	11	13	5	0	1	4	0	3	1	1	1	4	1	4	0	1	3	2	0	1	3	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr1:248112581T>A	ENST00000357191.3	+	1	422	c.422T>A	c.(421-423)gTg>gAg	p.V141E	OR2L13_ENST00000366478.2_Intron	NM_001001963.1	NP_001001963.1	Q8NGY9	OR2L8_HUMAN	olfactory receptor, family 2, subfamily L, member 8 (gene/pseudogene)	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(30)|ovary(1)|prostate(1)|skin(3)	42	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0152)			AGAGTGTGTGTGCTGATGATA	0.448													A	248112581	T	A	248112581	3	1	358	1	0	0	0	0	1	0	0	0	11085	1696	59	5	424	5	OR2L8	1	248112581	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	11345994	248112581	1138040	7	23236											
CCDC108	255101	broad.mit.edu	37	chr2	219868992	219868992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtctgtcttccttcGgctgcttgcccttcccatcc	1	15	8	17	1	3	0	0	0	3	0	7	0	6	0	4	2	2	3	4	2	0	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr2:219868992G>A	ENST00000341552.5	-	33	5320	c.5237C>T	c.(5236-5238)cCg>cTg	p.P1746L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1746L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1746L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1746						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCTTCCTTCGGCTGCTTGCC	0.532													A	219868992	G	A	219868992	3	1	358	1	0	0	0	0	1	0	0	0	2769	1116	39	1	552	1	CCDC108	2	219868992	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		219868992	23330381	8	23237											
STT3B	201595	broad.mit.edu	37	chr3	31641930	31641931	+	Frame_Shift_Ins	INS	-	-	A																															gttgttactgatgcagagatINSacagcaaaagagtctacata																										TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:31641930_31641931insA	ENST00000295770.2	+	5	1065_1066	c.856_857insA	c.(856-858)tacfs	p.Y286fs	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	286					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						GATGCAGAGATACAGCAAAAGA	0.322													A	31641931	-	A	31641930	7	5	358	1	0	1	1	0	0	0	0	0	15430	1406	49	0	874	0	STT3B	3	31641930	Frame_Shift_Ins	INS	-	TCGA-DU-5854-01A-11D-1705-08		31641930	166380500	9	23238											
OR5H14	403273	broad.mit.edu	37	chr3	97868995	97868995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatactatgggcccctcGccttcatgtatatgggctct	6	15	8	12	1	2	0	1	0	1	0	3	0	2	0	3	2	1	2	3	2	5	7	rs148799830		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:97868995G>A	ENST00000437310.1	+	1	826	c.766G>A	c.(766-768)Gcc>Acc	p.A256T		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGGGCCCCTCGCCTTCATGTA	0.413													A	97868995	G	A	97868995	3	1	358	1	0	0	0	0	1	0	0	0	11236	1087	38	1	768	1	OR5H14	3	97868995	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	66227065	97868995	100153435	10	23239											
KALRN	8997	broad.mit.edu	37	chr3	124393414	124393414	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggcagcatcctggcGcccctcaccaaagccacagc	9	4	9	19	1	1	0	1	0	0	0	3	0	3	0	6	2	3	2	6	2	1	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:124393414G>A	ENST00000291478.5	+	16	2218	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	KALRN_ENST00000360013.3_Silent_p.A2382A|KALRN_ENST00000428018.2_Silent_p.A653A|KALRN_ENST00000459915.1_Silent_p.A473A|KALRN_ENST00000393496.1_Silent_p.A722A	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase		Poly-Gln.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATCCTGGCGCCCCTCACCA	0.592													A	124393414	G	A	124393414	2	1	358	1	0	0	0	0	0	0	0	1	8033	1074	38	1		1	KALRN	3	124393414	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	26524419	124393414	73629016	11	23240											
MECOM	2122	broad.mit.edu	37	chr3	168833251	168833251	+	Frame_Shift_Del	DEL	G	G	-																															gcaggtcttgattcgacgttGcttcctttttttcccccaaa																								rs141957464	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr3:168833251delG	ENST00000464456.1	-	7	3045	c.1845delC	c.(1843-1845)agcfs	p.S615fs	MECOM_ENST00000494292.1_Frame_Shift_Del_p.S803fs|MECOM_ENST00000433243.2_Frame_Shift_Del_p.S616fs|MECOM_ENST00000264674.3_Frame_Shift_Del_p.S680fs|MECOM_ENST00000468789.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000460814.1_Frame_Shift_Del_p.S615fs|MECOM_ENST00000392736.3_Frame_Shift_Del_p.S615fs|MECOM_ENST00000472280.1_Frame_Shift_Del_p.S616fs	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	24							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATTCGACGTTGCTTCCTTTTT	0.488													-	168833251	G	-	168833251	7	5	358	1	0	1	0	1	0	0	0	0	9497	1310	46	0	1350	0	MECOM	3	168833251	Frame_Shift_Del	DEL	G	TCGA-DU-5854-01A-11D-1705-08	44439837	168833251	29189179	12	23241											
ZNF518B	85460	broad.mit.edu	37	chr4	10445887	10445887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgccctacagagcgaCgatgtgcactatttgaagcc	10	9	10	12	2	0	2	0	1	0	1	0	4	0	2	3	0	6	1	3	0	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:10445887C>T	ENST00000326756.3	-	3	2504	c.2066G>A	c.(2065-2067)cGt>cAt	p.R689H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACAGAGCGACGATGTGCACT	0.448													T	10445887	C	T	10445887	3	4	358	1	0	0	0	0	1	0	0	0	18064	536	19	1	1162	1	ZNF518B	4	10445887	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		10445887	180708389	13	23242											
PDGFRA	5156	broad.mit.edu	37	chr4	55139758	55139758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaatgtctcaaacatcatCacggagatccactcccgaga	15	7	6	13	2	3	2	3	0	1	2	6	4	5	2	2	1	2	0	2	1	3	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:55139758C>T	ENST00000257290.5	+	10	1750	c.1419C>T	c.(1417-1419)atC>atT	p.I473I	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	473	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CAAACATCATCACGGAGATCC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55139758	C	T	55139758	2	4	358	1	0	0	0	0	0	0	0	1	11737	816	29	2		2	PDGFRA	4	55139758	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	44693871	55139758	136014518	14	23243											
AGA	175	broad.mit.edu	37	chr4	178361475	178361475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccaagttcatcaggaCttcctccaaagcctacagag	11	11	6	13	0	3	1	2	0	1	1	6	2	5	2	4	1	2	1	4	1	3	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr4:178361475C>T	ENST00000264595.2	-	2	360	c.233G>A	c.(232-234)aGt>aAt	p.S78N	AGA_ENST00000506853.1_5'UTR	NM_000027.3|NM_001171988.1	NP_000018.2|NP_001165459.1	P20933	ASPG_HUMAN	aspartylglucosaminidase	78					asparagine catabolic process via L-aspartate|protein deglycosylation|protein maturation	endoplasmic reticulum|intermediate filament cytoskeleton|lysosome|microtubule cytoskeleton	N4-(beta-N-acetylglucosaminyl)-L-asparaginase activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|skin(2)	16		all_lung(41;1.27e-09)|Lung NSC(41;1.1e-08)|Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Hepatocellular(41;0.148)|all_neural(102;0.164)|Colorectal(36;0.245)		all cancers(43;1.37e-22)|Epithelial(43;3.86e-20)|OV - Ovarian serous cystadenocarcinoma(60;3.8e-11)|Colorectal(24;6.98e-05)|GBM - Glioblastoma multiforme(59;0.000362)|COAD - Colon adenocarcinoma(29;0.000462)|STAD - Stomach adenocarcinoma(60;0.0029)|LUSC - Lung squamous cell carcinoma(193;0.0328)|READ - Rectum adenocarcinoma(43;0.163)		TTCATCAGGACTTCCTCCAAA	0.493													T	178361475	C	T	178361475	3	4	358	1	0	0	0	0	1	0	0	0	365	565	20	2	839	2	AGA	4	178361475	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	123221717	178361475	12792801	15	23244											
GABRA1	2554	broad.mit.edu	37	chr5	161324340	161324340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcaagaatagccttccCgctgctatttggaatcttta	10	14	7	10	1	2	1	1	0	1	1	3	2	3	2	2	1	2	2	2	1	6	6			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:161324340C>T	ENST00000428797.2	+	11	1638	c.1283C>T	c.(1282-1284)cCg>cTg	p.P428L	GABRA1_ENST00000420560.1_Missense_Mutation_p.P428L|GABRA1_ENST00000023897.6_Missense_Mutation_p.P428L|GABRA1_ENST00000393943.4_Missense_Mutation_p.P428L|GABRA1_ENST00000437025.2_Missense_Mutation_p.P428L|GABRA1_ENST00000444819.1_Missense_Mutation_p.P428L	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	428					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	ATAGCCTTCCCGCTGCTATTT	0.423													T	161324340	C	T	161324340	3	4	358	1	0	0	0	0	1	0	0	0	6212	652	23	1	1317	1	GABRA1	5	161324340	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		161324340	19590920	16	23245											
RNF130	55819	broad.mit.edu	37	chr5	179393883	179393883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtgagatccccgaagttCgaagtggctcaaggccaagg	11	6	15	9	2	1	1	1	1	0	1	3	5	2	1	3	4	0	2	3	4	4	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr5:179393883C>T	ENST00000522208.2	-	7	1091	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	RNF130_ENST00000261947.4_Missense_Mutation_p.R358Q|RNF130_ENST00000521389.1_Missense_Mutation_p.R358Q			Q86XS8	GOLI_HUMAN	ring finger protein 130	358					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCCGAAGTTCGAAGTGGCTC	0.562													T	179393883	C	T	179393883	3	4	358	1	0	0	0	0	1	0	0	0	13529	884	31	1	198	1	RNF130	5	179393883	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	18069543	179393883	1521377	17	23246											
FANCE	2178	broad.mit.edu	37	chr6	35427183	35427183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtgccaaatatacatacCctgtctgcagcgccctcctt	8	12	6	15	1	2	0	0	0	2	0	3	0	3	0	4	0	5	1	4	0	4	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:35427183C>A	ENST00000229769.2	+	6	1374	c.1189C>A	c.(1189-1191)Cct>Act	p.P397T		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	397					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						ATATACATACCCTGTCTGCAG	0.567			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	35427183	C	A	35427183	3	1	358	1	0	0	0	0	1	0	0	0	5715	623	22	4	1211	4	FANCE	6	35427183	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		35427183	135687884	18	23247											
FAM83B	222584	broad.mit.edu	37	chr6	54735366	54735366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaatcttgacttaggcTggccatatgtgatgcccgga	9	11	10	11	1	1	2	0	2	1	0	2	3	2	3	3	3	1	1	3	3	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:54735366T>C	ENST00000306858.7	+	2	438	c.322T>C	c.(322-324)Tgg>Cgg	p.W108R		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	108										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TGACTTAGGCTGGCCATATGT	0.458													C	54735366	T	C	54735366	3	2	358	1	0	0	0	0	1	0	0	0	5684	1580	55	3	324	3	FAM83B	6	54735366	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	19308183	54735366	116379701	19	23248											
RFX6	222546	broad.mit.edu	37	chr6	117248565	117248565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatataactcccggccacCgtctagctatggcccatccc	8	9	6	18	2	1	0	0	0	1	0	4	0	4	0	6	2	2	1	6	2	4	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:117248565C>T	ENST00000332958.2	+	17	2277	c.2261C>T	c.(2260-2262)cCg>cTg	p.P754L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	754					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TCCCGGCCACCGTCTAGCTAT	0.517													T	117248565	C	T	117248565	3	4	358	1	0	0	0	0	1	0	0	0	13355	652	23	1	2327	1	RFX6	6	117248565	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	62513199	117248565	53866502	20	23249											
LPA	4018	broad.mit.edu	37	chr6	161006128	161006128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaatgtggtgtcatagaCgaccaagactgacatgttct	11	11	10	9	1	2	3	1	1	1	2	2	4	2	3	2	1	1	1	2	1	3	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr6:161006128C>T	ENST00000447678.1	-	27	4359	c.4239G>A	c.(4237-4239)tcG>tcA	p.S1413S	LPA_ENST00000316300.5_Silent_p.S1413S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3921	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity	p.S1413S(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GTGTCATAGACGACCAAGACT	0.448													T	161006128	C	T	161006128	2	4	358	1	0	0	0	0	0	0	0	1	8973	523	19	1		1	LPA	6	161006128	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	43757563	161006128	10108939	21	23250											
ZNF804B	219578	broad.mit.edu	37	chr7	88965634	88965634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataaatcatgtagagggaaAtataaactcttactatgaca	18	12	6	5	0	2	2	1	1	1	1	2	3	2	3	0	1	2	1	0	1	10	7			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:88965634A>G	ENST00000333190.4	+	4	3947	c.3338A>G	c.(3337-3339)aAt>aGt	p.N1113S		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1113						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			GTAGAGGGAAATATAAACTCT	0.353										HNSCC(36;0.09)			G	88965634	A	G	88965634	3	3	358	1	0	0	0	0	1	0	0	0	18270	101	4	3	3352	3	ZNF804B	7	88965634	Missense_Mutation	SNP	A	TCGA-DU-5854-01A-11D-1705-08		88965634	70173029	22	23251											
COL1A2	1278	broad.mit.edu	37	chr7	94038721	94038721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaggcctctccggccccGttggacctcctgtaagtagc	5	10	10	16	2	1	0	0	0	1	0	4	1	3	1	7	3	1	3	7	3	2	4	rs145693444	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:94038721G>A	ENST00000297268.6	+	17	1351	c.880G>A	c.(880-882)Gtt>Att	p.V294I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	294					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTCCGGCCCCGTTGGACCTCC	0.502										HNSCC(75;0.22)			A	94038721	G	A	94038721	3	1	358	1	0	0	0	0	1	0	0	0	3709	1145	40	1	946	1	COL1A2	7	94038721	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	5073087	94038721	65099942	23	23252											
PLXNA4	91584	broad.mit.edu	37	chr7	131859587	131859587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcctgggaacagcacccGcatggtgtaagttctatagt	11	11	10	9	1	1	0	0	0	1	0	2	1	2	1	2	2	2	4	2	2	5	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:131859587G>A	ENST00000359827.3	-	21	4929	c.3967C>T	c.(3967-3969)Cgg>Tgg	p.R1323W	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1323W			Q9HCM2	PLXA4_HUMAN	plexin A4	1323						integral to membrane|intracellular|plasma membrane		p.R1323W(3)		NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AACAGCACCCGCATGGTGTAA	0.582													A	131859587	G	A	131859587	3	1	358	1	0	0	0	0	1	0	0	0	12199	1086	38	1	1765	1	PLXNA4	7	131859587	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	37820866	131859587	27279076	24	23253											
TRPV6	55503	broad.mit.edu	37	chr7	142573227	142573227	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaagggtgtcacctgaagTagcttctgctgtaagagggt	10	11	13	7	0	2	2	1	1	1	1	2	2	2	2	1	2	3	4	1	2	5	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:142573227T>C	ENST00000359396.3	-	8	1361	c.1116A>G	c.(1114-1116)ctA>ctG	p.L372L		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	372					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TCACCTGAAGTAGCTTCTGCT	0.572													C	142573227	T	C	142573227	2	2	358	1	0	0	0	0	0	0	0	1	16701	1625	57	3		3	TRPV6	7	142573227	Silent	SNP	T	TCGA-DU-5854-01A-11D-1705-08	10713640	142573227	16565436	25	23254											
ZNF282	8427	broad.mit.edu	37	chr7	148910879	148910879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccacgcgactcaatggacGgagagcttggattagactct	11	8	12	10	3	2	2	1	0	1	2	2	7	2	4	1	3	1	1	1	3	2	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:148910879G>A	ENST00000262085.3	+	7	1258	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R	ZNF282_ENST00000479907.1_Missense_Mutation_p.G385R	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	385					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		CTCAATGGACGGAGAGCTTGG	0.542													A	148910879	G	A	148910879	3	1	358	1	0	0	0	0	1	0	0	0	17920	1117	39	1	1179	1	ZNF282	7	148910879	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	6337652	148910879	10227784	26	23255											
RNF32	140545	broad.mit.edu	37	chr7	156437272	156437272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttacatgatcttcaacttcGaaatctttcagttgcagatc	11	16	5	9	1	4	2	2	1	2	1	6	3	4	2	0	0	3	2	0	0	3	6			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr7:156437272G>A	ENST00000392741.2	+	2	183	c.95G>A	c.(94-96)cGa>cAa	p.R32Q	RNF32_ENST00000311822.8_Missense_Mutation_p.R32Q|RNF32_ENST00000317955.5_Missense_Mutation_p.R32Q|RNF32_ENST00000432459.2_Missense_Mutation_p.R32Q|RNF32_ENST00000392743.2_Missense_Mutation_p.R32Q|RNF32_ENST00000343665.4_Missense_Mutation_p.R32Q|RNF32_ENST00000392740.1_Missense_Mutation_p.R32Q|RNF32_ENST00000405335.1_Missense_Mutation_p.R32Q			Q9H0A6	RNF32_HUMAN	ring finger protein 32	32						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CTTCAACTTCGAAATCTTTCA	0.328													A	156437272	G	A	156437272	3	1	358	1	0	0	0	0	1	0	0	0	13579	1058	37	1	101	1	RNF32	7	156437272	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	7526393	156437272	2701391	27	23256											
NRG1	3084	broad.mit.edu	37	chr8	32621577	32621577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggatgaggagtatgaaaCgacccaagagtacgagccag	15	4	15	7	2	0	3	0	2	0	1	0	8	0	6	2	3	3	2	2	3	4	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:32621577C>T	ENST00000338921.4	+	13	2121	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	NRG1_ENST00000287842.3_Missense_Mutation_p.T524M|NRG1_ENST00000356819.4_Missense_Mutation_p.T532M|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287845.5_Missense_Mutation_p.T498M|NRG1_ENST00000519301.1_Missense_Mutation_p.T477M|NRG1_ENST00000539990.1_Missense_Mutation_p.T370M|NRG1_ENST00000405005.3_Missense_Mutation_p.T527M			Q02297	NRG1_HUMAN	neuregulin 1	527				Q -> R (in Ref. 2; AAA19951).	activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		GAGTATGAAACGACCCAAGAG	0.552													T	32621577	C	T	32621577	3	4	358	1	0	0	0	0	1	0	0	0	10723	536	19	1	3351	1	NRG1	8	32621577	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		32621577	113742445	28	23257											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729072	37729072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccaggaggcgggcttGgactcccatttcccatcggt	6	10	13	12	2	0	0	0	0	0	0	3	2	2	2	3	5	1	1	3	5	0	2	rs146365728		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:37729072G>T	ENST00000330843.4	-	4	3260	c.3248C>A	c.(3247-3249)cCa>cAa	p.P1083Q	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1083					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AGGCGGGCTTGGACTCCCATT	0.542											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	37729072	G	T	37729072	3	4	358	1	0	0	0	0	1	0	0	0	12981	1348	47	4	615	4	RAB11FIP1	8	37729072	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	5107495	37729072	108634950	29	23258											
RPL7	6129	broad.mit.edu	37	chr8	74205020	74205022	+	In_Frame_Del	DEL	CTT	CTT	-																															tctggcacagcaggaacctcCttcttcttctctctaacgtt																								rs151181576		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:74205020_74205022delCTT	ENST00000352983.2	-	2	310_312	c.25_27delAAG	c.(25-27)aagdel	p.K9del	RPL7_ENST00000396466.1_5'UTR|RPL7_ENST00000396467.1_5'UTR|RPL7_ENST00000396465.1_5'UTR			P18124	RL7_HUMAN	ribosomal protein L7	9	4 X 12 AA tandem repeats.				endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			CAGGAACCTCCTTCTTCTTCTCT	0.414													-	74205022	CTT	-	74205020	7	5	358	1	0	1	0	1	0	0	0	0	13690	680	24	0	739	0	RPL7	8	74205020	In_Frame_Del	DEL	CTT	TCGA-DU-5854-01A-11D-1705-08	36475948	74205020	72159002	30	23259											
JRK	8629	broad.mit.edu	37	chr8	143746154	143746154	+	RNA	DEL	C	C	-																															ttctgcctcccttcccgctaCcccccagctggcggcctggc																										TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr8:143746154delC	ENST00000507178.2	-	0	1656									jerky homolog (mouse)													all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				cttcccgctaccccccagctg	0.637													-	143746154	C	-	143746154	6	5	358	0	1	1	0	1	0	0	0	0	8022	507	18	0		0	JRK	8	143746154	RNA	DEL	C	TCGA-DU-5854-01A-11D-1705-08	69541134	143746154	2617868	31	23260											
RECK	8434	broad.mit.edu	37	chr9	36102223	36102223	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtatacctttggatacataCctcagtaagtacttttttgt	10	18	6	7	0	1	0	1	0	0	0	1	1	1	1	2	1	4	3	2	1	6	10			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:36102223C>A	ENST00000377966.3	+	12	1997	c.1431C>A	c.(1429-1431)taC>taA	p.Y477*		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	477						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			TGGATACATACCTCAGTAAGT	0.343													A	36102223	C	A	36102223	4	1	358	1	0	0	0	0	0	1	0	0	13288	518	18	4	1477	4	RECK	9	36102223	Nonsense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08		36102223	105111208	32	23261											
LMX1B	4010	broad.mit.edu	37	chr9	129453250	129453250	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagctacgcaagggcgaCgaattcgtgctcaaggaggg	10	5	16	10	5	1	0	1	0	0	0	2	3	1	1	0	4	3	4	0	4	4	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr9:129453250C>T	ENST00000355497.5	+	3	469	c.462C>T	c.(460-462)gaC>gaT	p.D154D	LMX1B_ENST00000561065.1_Silent_p.D131D|LMX1B_ENST00000373474.4_Silent_p.D154D|LMX1B_ENST00000526117.1_Silent_p.D154D|LMX1B_ENST00000425646.2_Silent_p.D131D	NM_001174146.1	NP_001167617.1	O60663	LMX1B_HUMAN	LIM homeobox transcription factor 1, beta	131					dorsal/ventral pattern formation|in utero embryonic development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	15						GCAAGGGCGACGAATTCGTGC	0.637									Nail-Patella Syndrome				T	129453250	C	T	129453250	2	4	358	1	0	0	0	0	0	0	0	1	8923	535	19	1		1	LMX1B	9	129453250	Silent	SNP	C	TCGA-DU-5854-01A-11D-1705-08	93351027	129453250	11760181	33	23262											
RRAS2	22800	broad.mit.edu	37	chr11	14303174	14303174	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccggacaagttcatggaaAgcttgatctacattcatcct	12	11	7	11	1	3	1	2	1	1	0	4	3	4	3	2	2	2	2	2	2	3	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:14303174A>C	ENST00000545643.1	-	5	832	c.519T>G	c.(517-519)gcT>gcG	p.A173A	RRAS2_ENST00000534746.1_Silent_p.A90A|RRAS2_ENST00000414023.2_Silent_p.A90A|RRAS2_ENST00000532814.1_Silent_p.A90A|RRAS2_ENST00000537760.1_Silent_p.A132A|RRAS2_ENST00000526063.1_Silent_p.A90A|RRAS2_ENST00000256196.4_Silent_p.A167A|RRAS2_ENST00000529237.1_Silent_p.A90A	NM_012250.5	NP_036382.2	P62070	RRAS2_HUMAN	related RAS viral (r-ras) oncogene homolog 2	167						endoplasmic reticulum|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|endometrium(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	12				Epithelial(150;0.203)		GTTCATGGAAAGCTTGATCTA	0.348													C	14303174	A	C	14303174	2	2	358	1	0	0	0	0	0	0	0	1	13768	59	3	5		5	RRAS2	11	14303174	Silent	SNP	A	TCGA-DU-5854-01A-11D-1705-08		14303174	120703342	34	23263											
OR4C6	219432	broad.mit.edu	37	chr11	55433000	55433000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtgatggcctatgacCgctacgtggccatctgtaag	8	11	11	11	2	2	2	1	2	1	0	2	2	2	2	3	2	1	2	3	2	3	3	rs146965889	byFrequency	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:55433000C>T	ENST00000314259.3	+	1	387	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GGCCTATGACCGCTACGTGGC	0.552													T	55433000	C	T	55433000	3	4	358	1	0	0	0	0	1	0	0	0	11128	652	23	1	360	1	OR4C6	11	55433000	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	41129826	55433000	79573516	35	23264											
DPAGT1	1798	broad.mit.edu	37	chr11	118967807	118967807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggactggagtaagaatcacGcagaaagggagacacggagg	15	4	16	6	2	1	3	1	0	0	3	1	7	1	6	0	5	0	2	0	5	3	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr11:118967807G>A	ENST00000432443.2	-	7	1307	c.885C>T	c.(883-885)tgC>tgT	p.C295C	DPAGT1_ENST00000354202.4_Intron|DPAGT1_ENST00000409993.2_Intron			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	385					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TAAGAATCACGCAGAAAGGGA	0.502													A	118967807	G	A	118967807	2	1	358	1	0	0	0	0	0	0	0	1	4749	1102	38	1		1	DPAGT1	11	118967807	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	63534807	118967807	16038709	36	23265											
A2ML1	144568	broad.mit.edu	37	chr12	9004550	9004550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttactcagtagtccGtggggaatcctttcgtctta	6	15	8	12	2	3	0	1	0	2	0	7	1	5	1	3	2	1	1	3	2	4	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:9004550G>A	ENST00000299698.7	+	19	2585	c.2405G>A	c.(2404-2406)cGt>cAt	p.R802H	A2ML1_ENST00000539547.1_Missense_Mutation_p.R311H	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	646						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						TCAGTAGTCCGTGGGGAATCC	0.502													A	9004550	G	A	9004550	3	1	358	1	0	0	0	0	1	0	0	0	5	1145	40	1	2479	1	A2ML1	12	9004550	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		9004550	124847345	37	23266											
C12orf39	80763	broad.mit.edu	37	chr12	21684077	21684077	+	Frame_Shift_Del	DEL	A	A	-																															tttttttcttacagatgaagAaaaaaactttgatcaaacca																										TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:21684077delA	ENST00000256969.2	+	6	465	c.299delA	c.(298-300)gaafs	p.E100fs	C12orf39_ENST00000543800.1_3'UTR	NM_030572.2	NP_085049.1	Q9BT56	SPXN_HUMAN	chromosome 12 open reading frame 39	100						extracellular region|nucleus|transport vesicle				endometrium(3)|large_intestine(1)|lung(2)|urinary_tract(1)	7						ACAGATGAAGAAAAAAACTTT	0.284													-	21684077	A	-	21684077	7	5	358	1	0	1	0	1	0	0	0	0	1697	246	9	0	321	0	C12orf39	12	21684077	Frame_Shift_Del	DEL	A	TCGA-DU-5854-01A-11D-1705-08	12679527	21684077	112167818	38	23267											
KRT3	3850	broad.mit.edu	37	chr12	53187985	53187985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttgtccaggtagctcCgcaggtagttgatgtgattc	7	13	14	7	1	0	2	0	2	0	0	3	3	2	3	2	3	1	6	2	3	2	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:53187985C>T	ENST00000417996.2	-	2	850	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	KRT3_ENST00000309505.3_Missense_Mutation_p.R259Q	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	259	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CAGGTAGCTCCGCAGGTAGTT	0.532													T	53187985	C	T	53187985	3	4	358	1	0	0	0	0	1	0	0	0	8524	652	23	1	1142	1	KRT3	12	53187985	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	31503908	53187985	80663910	39	23268											
MORN3	283385	broad.mit.edu	37	chr12	122091088	122091088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccttcaaacagctggcCgtggtccagatggaagaaac	13	6	12	10	1	1	2	1	0	0	2	2	4	2	3	3	3	4	1	3	3	4	1			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:122091088C>T	ENST00000355329.3	-	4	711	c.541G>A	c.(541-543)Ggc>Agc	p.G181S		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	181										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		AACAGCTGGCCGTGGTCCAGA	0.607													T	122091088	C	T	122091088	3	4	358	1	0	0	0	0	1	0	0	0	9785	652	23	1	189	1	MORN3	12	122091088	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	68903103	122091088	11760807	40	23269											
TMEM132B	114795	broad.mit.edu	37	chr12	126139203	126139203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgccaagatatggggctgGgggattcacaggactttaga	10	10	14	7	0	2	2	1	0	1	2	2	4	2	4	1	5	1	1	1	5	3	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr12:126139203G>A	ENST00000299308.3	+	9	3192	c.3184G>A	c.(3184-3186)Ggg>Agg	p.G1062R	TMEM132B_ENST00000535886.1_Missense_Mutation_p.G574R	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1062						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TATGGGGCTGGGGGATTCACA	0.463													A	126139203	G	A	126139203	3	1	358	1	0	0	0	0	1	0	0	0	16146	1232	43	2	3218	2	TMEM132B	12	126139203	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	4048115	126139203	7712692	41	23270											
LIG4	3981	broad.mit.edu	37	chr13	108863573	108863573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacacaaatctgcaaaaGgaacgtgagatgcaacagtt	17	8	9	7	1	1	2	0	2	1	1	1	4	1	3	0	1	5	3	0	1	6	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr13:108863573G>C	ENST00000356922.4	-	2	316	c.44C>G	c.(43-45)cCt>cGt	p.P15R	LIG4_ENST00000405925.1_Missense_Mutation_p.P15R|LIG4_ENST00000442234.1_Missense_Mutation_p.P15R	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	15					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					ATCTGCAAAAGGAACGTGAGA	0.358								Non-homologous end-joining					C	108863573	G	C	108863573	3	2	358	1	0	0	0	0	1	0	0	0	8843	1000	35	4	2695	4	LIG4	13	108863573	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		108863573	6306305	42	23271											
GABRB3	2562	broad.mit.edu	37	chr15	27184436	27184436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaatgggaggtctcctcGtgcctcccacacagccaggc	9	7	11	14	1	1	1	0	1	1	0	4	2	2	2	4	3	2	0	4	3	2	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:27184436G>A	ENST00000541819.2	-	1	250	c.148C>T	c.(148-150)Cga>Tga	p.R50*	GABRA5_ENST00000335625.5_Intron|GABRA5_ENST00000400081.3_Intron|GABRA5_ENST00000355395.5_Intron			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	0					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AGGTCTCCTCGTGCCTCCCAC	0.582													A	27184436	G	A	27184436	4	1	358	1	0	0	0	0	0	1	0	0	6220	1160	40	1		1	GABRB3	15	27184436	Nonsense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		27184436	75346956	43	23272											
TRIM69	140691	broad.mit.edu	37	chr15	45050860	45050860	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatgtgtccatggagttTctaaagctgcatcagttcct	10	13	8	10	0	2	0	1	0	1	0	4	1	4	1	2	1	3	4	2	1	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr15:45050860T>C	ENST00000558173.1	+	2	4754	c.9T>C	c.(7-9)ttT>ttC	p.F3F	TRIM69_ENST00000338264.4_Silent_p.F48F|TRIM69_ENST00000559390.1_Silent_p.F207F|TRIM69_ENST00000560442.1_Silent_p.F3F|TRIM69_ENST00000329464.4_Silent_p.F207F|TRIM69_ENST00000558329.1_Silent_p.F3F|TRIM69_ENST00000561043.1_Intron			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	207	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		CCATGGAGTTTCTAAAGCTGC	0.463													C	45050860	T	C	45050860	2	2	358	1	0	0	0	0	0	0	0	1	16643	1780	62	3		3	TRIM69	15	45050860	Silent	SNP	T	TCGA-DU-5854-01A-11D-1705-08	17866424	45050860	57480532	44	23273											
NCOR1	9611	broad.mit.edu	37	chr17	16029417	16029417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagtcttctttttcatctTtttcctcttcatctttcttt	3	25	3	10	0	8	0	2	0	6	0	9	1	9	1	1	1	0	0	1	1	0	8			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr17:16029417T>C	ENST00000268712.3	-	15	1870	c.1613A>G	c.(1612-1614)aAa>aGa	p.K538R	NCOR1_ENST00000395848.1_Missense_Mutation_p.K429R|NCOR1_ENST00000395851.1_Missense_Mutation_p.K538R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	538					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		tttttcatctttttcctcttc	0.264													C	16029417	T	C	16029417	3	2	358	1	0	0	0	0	1	0	0	0	10311	1841	64	3	5837	3	NCOR1	17	16029417	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08		16029417	65165793	45	23274											
MUC16	94025	broad.mit.edu	37	chr19	9046352	9046352	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaggagaatgagtcaaaGttggaacagttgtactggtt	13	11	12	5	0	1	2	1	1	0	1	1	4	1	3	1	3	3	4	1	3	5	5			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9046352G>T	ENST00000397910.4	-	5	35482	c.35279C>A	c.(35278-35280)aCt>aAt	p.T11760N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11762	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						ATGAGTCAAAGTTGGAACAGT	0.478													T	9046352	G	T	9046352	3	4	358	1	0	0	0	0	1	0	0	0	10049	1029	36	4	8564	4	MUC16	19	9046352	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		9046352	50082631	46	23275											
MUC16	94025	broad.mit.edu	37	chr19	9090675	9090675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaagtcttggctatGtgggtgctgggtatatccat	9	12	13	7	0	1	0	0	0	1	0	2	1	2	0	2	3	2	3	2	3	5	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr19:9090675G>T	ENST00000397910.4	-	1	1343	c.1140C>A	c.(1138-1140)caC>caA	p.H380Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	380	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						TCTTGGCTATGTGGGTGCTGG	0.507													T	9090675	G	T	9090675	3	4	358	1	0	0	0	0	1	0	0	0	10049	1368	48	4	42719	4	MUC16	19	9090675	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	44323	9090675	50038308	47	23276											
SNPH	9751	broad.mit.edu	37	chr20	1286246	1286246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggacagaccctgagtcaGgggacaggtgcccagagctg	9	5	17	10	0	1	3	1	1	0	2	1	5	1	5	2	4	2	1	2	4	0	0	rs140720029		TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr20:1286246G>T	ENST00000381867.1	+	7	1807	c.1165G>T	c.(1165-1167)Ggg>Tgg	p.G389W	SNPH_ENST00000381873.3_Missense_Mutation_p.G345W			O15079	SNPH_HUMAN	syntaphilin	345					synaptic vesicle docking involved in exocytosis	cell junction|integral to membrane|synapse|synaptosome	syntaxin-1 binding			endometrium(2)|large_intestine(4)|lung(10)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCTGAGTCAGGGGACAGGTG	0.622													T	1286246	G	T	1286246	3	4	358	1	0	0	0	0	1	0	0	0	14944	1000	35	4	1047	4	SNPH	20	1286246	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		1286246	61739274	48	23277											
BAGE2	85319	broad.mit.edu	37	chr21	11038841	11038841	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcatgatgtttccagcaGaggaactaagagctgaaggg	12	9	14	6	0	0	4	0	2	0	2	1	5	1	5	1	3	3	4	1	3	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:11038841G>C	ENST00000470054.1	-	0	1362									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTTTCCAGCAGAGGAACTAAG	0.453													C	11038841	G	C	11038841	1	2	358	0	1	0	0	0	0	0	0	0	1297	957	33	4		4	BAGE2	21	11038841	RNA	SNP	G	TCGA-DU-5854-01A-11D-1705-08		11038841	37091054	49	23278											
RIPK4	54101	broad.mit.edu	37	chr21	43161994	43161994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagcagcagccacttggcGcactcctcttgcccggcctc	5	9	10	17	2	1	1	0	1	1	0	3	1	2	1	4	2	4	3	4	2	0	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chr21:43161994G>A	ENST00000352483.2	-	9	1567	c.1503C>T	c.(1501-1503)tgC>tgT	p.C501C	RIPK4_ENST00000544709.1_Silent_p.C390C|RIPK4_ENST00000332512.3_Silent_p.C453C|RIPK4_ENST00000542057.1_Silent_p.C390C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	453						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity	p.C453C(1)		NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCCACTTGGCGCACTCCTCTT	0.657													A	43161994	G	A	43161994	2	1	358	1	0	0	0	0	0	0	0	1	13474	1079	38	1		1	RIPK4	21	43161994	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	32123153	43161994	4967901	50	23279											
MXRA5	25878	broad.mit.edu	37	chrX	3228242	3228242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagcgtccaggagaaacGtccctgcccagccccgggag	8	3	16	14	3	0	1	0	0	0	1	2	4	2	3	5	4	4	0	5	4	1	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:3228242G>A	ENST00000217939.6	-	7	8156	c.8002C>T	c.(8002-8004)Cgt>Tgt	p.R2668C		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2668	Ig-like C2-type 11.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAGGAGAAACGTCCCTGCCCA	0.592													A	3228242	G	A	3228242	3	1	358	1	0	0	0	0	1	0	0	0	10079	1145	40	1	488	1	MXRA5	23	3228242	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08		3228242	152042318	51	23280											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	8	6	12	15	1	1	1	1	0	0	1	2	2	1	2	5	4	1	1	5	4	1	0			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:19369427G>A	ENST00000379806.5	+	5	579	c.434G>A	c.(433-435)gGc>gAc	p.G145D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													A	19369427	G	A	19369427	3	1	358	1	0	0	0	0	1	0	0	0	11740	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-DU-5854-01A-11D-1705-08	16141185	19369427	135901133	52	23281											
HDX	139324	broad.mit.edu	37	chrX	83724443	83724443	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattggcagatgtccaagaAgactgctggcttgagggtcg	9	11	14	7	1	0	4	0	1	0	3	2	4	1	4	1	3	1	3	1	3	3	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:83724443A>C	ENST00000297977.5	-	3	399	c.288T>G	c.(286-288)tcT>tcG	p.S96S	HDX_ENST00000373177.2_Silent_p.S96S|HDX_ENST00000506585.2_Silent_p.S38S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	96						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGTCCAAGAAGACTGCTGGC	0.428													C	83724443	A	C	83724443	2	2	358	1	0	0	0	0	0	0	0	1	7081	59	3	5		5	HDX	23	83724443	Silent	SNP	A	TCGA-DU-5854-01A-11D-1705-08	64355016	83724443	71546117	53	23282											
CXorf57	55086	broad.mit.edu	37	chrX	105855370	105855370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgcagggctagattggccGaaccctgagaggaatcgggc	10	6	15	10	2	0	2	0	1	0	2	1	5	0	3	2	4	2	2	2	4	3	2			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:105855370G>A	ENST00000372548.4	+	1	169	c.60G>A	c.(58-60)ccG>ccA	p.P20P	CXorf57_ENST00000372544.2_Silent_p.P20P	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	20								p.P20P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						TAGATTGGCCGAACCCTGAGA	0.572													A	105855370	G	A	105855370	2	1	358	1	0	0	0	0	0	0	0	1	4146	1045	37	1		1	CXorf57	23	105855370	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	22130927	105855370	49415190	54	23283											
SAGE1	55511	broad.mit.edu	37	chrX	134994995	134994995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcagcaactcgagaaggCgcttaaagaaatagattccc	16	8	8	9	2	1	3	1	0	0	3	3	4	2	3	1	1	2	2	1	1	7	4	rs139129211	by1000genomes	TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:134994995C>T	ENST00000535938.1	+	20	2821	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	SAGE1_ENST00000537770.1_Missense_Mutation_p.A509V|SAGE1_ENST00000370709.3_Missense_Mutation_p.A885V|SAGE1_ENST00000324447.3_Missense_Mutation_p.A885V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	885										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCGAGAAGGCGCTTAAAGAA	0.368													T	134994995	C	T	134994995	3	4	358	1	0	0	0	0	1	0	0	0	13900	768	27	1	2728	1	SAGE1	23	134994995	Missense_Mutation	SNP	C	TCGA-DU-5854-01A-11D-1705-08	29139625	134994995	20275565	55	23284											
PNMA5	114824	broad.mit.edu	37	chrX	152159963	152159963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagactgccttggcattGtcttccctcctgaacattct	8	14	7	12	0	2	3	0	2	2	1	4	3	4	3	3	1	2	1	3	1	2	4			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:152159963G>A	ENST00000439251.1	-	2	618	c.180C>T	c.(178-180)gaC>gaT	p.D60D	PNMA5_ENST00000361887.5_Silent_p.D60D|PNMA5_ENST00000535214.1_Silent_p.D60D|PNMA5_ENST00000452693.1_Silent_p.D60D	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	60					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ccttggcattgtcttccctcc	0.522													A	152159963	G	A	152159963	2	1	358	1	0	0	0	0	0	0	0	1	12233	1368	48	2		2	PNMA5	23	152159963	Silent	SNP	G	TCGA-DU-5854-01A-11D-1705-08	17164968	152159963	3110597	56	23285											
MTCP1	4515	broad.mit.edu	37	chrX	154293907	154293907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtaccattaaatgatgcTgtatctgccacaagcgagag	12	11	10	8	1	1	2	0	1	1	1	1	3	1	2	2	0	4	3	2	0	5	3			TCGA-DU-5854-01A-11D-1705-08	TCGA-DU-5854-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2defa773-3cbd-4c3c-9437-5f6db860284e	fb3c685f-0ff5-4ea1-b28f-1b037edc40db	g.chrX:154293907T>C	ENST00000369476.3	-	3	842	c.263A>G	c.(262-264)cAg>cGg	p.Q88R	MTCP1_ENST00000482244.1_5'UTR|CMC4_ENST00000369484.3_Intron|MTCP1_ENST00000362018.2_Missense_Mutation_p.Q88R	NM_001018025.3	NP_001018025.1	P56278	MTCP1_HUMAN	mature T-cell proliferation 1	88					cell proliferation					large_intestine(1)|lung(2)|prostate(1)|urinary_tract(1)	5	all_cancers(53;3.51e-17)|all_epithelial(53;5.13e-11)|all_lung(58;3.84e-07)|Lung NSC(58;1.2e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TAAATGATGCTGTATCTGCCA	0.453			T	TRA@	T cell prolymphocytic leukemia								C	154293907	T	C	154293907	3	2	358	1	0	0	0	0	1	0	0	0	9991	1580	55	3	68	3	MTCP1	23	154293907	Missense_Mutation	SNP	T	TCGA-DU-5854-01A-11D-1705-08	2133944	154293907	976653	57	23286											
SCMH1	22955	broad.mit.edu	37	chr1	41579187	41579187	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagttgtgggaaggCgatggtggctcctagatgag	10	10	17	4	1	0	4	0	2	0	2	1	6	1	5	1	4	0	2	1	4	4	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:41579187C>T	ENST00000402904.2	-	8	851	c.483G>A	c.(481-483)tcG>tcA	p.S161S	SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000372595.1_Silent_p.S100S|SCMH1_ENST00000361705.3_Silent_p.S114S|SCMH1_ENST00000337495.5_Silent_p.S171S|SCMH1_ENST00000397174.2_Silent_p.S141S|SCMH1_ENST00000372597.1_Silent_p.S114S|SCMH1_ENST00000326197.7_Silent_p.S161S|SCMH1_ENST00000361191.5_Silent_p.S100S|SCMH1_ENST00000372596.1_Silent_p.S100S|SCMH1_ENST00000397171.2_Silent_p.S100S	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	161					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				TGTGGGAAGGCGATGGTGGCT	0.443													T	41579187	C	T	41579187	2	4	359	1	0	0	0	0	0	0	0	1	14001	755	27	1		1	SCMH1	1	41579187	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		41579187	207671434	1	23287											
PTPRF	5792	broad.mit.edu	37	chr1	44079328	44079328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccatcaccgacctggCggacaacatcgagcgcctca	10	5	8	18	4	2	0	2	0	0	0	4	3	3	1	5	2	2	0	5	2	1	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:44079328C>T	ENST00000359947.4	+	23	4353	c.4013C>T	c.(4012-4014)gCg>gTg	p.A1338V	PTPRF_ENST00000438120.1_Missense_Mutation_p.A1329V|PTPRF_ENST00000422171.2_Missense_Mutation_p.A697V|PTPRF_ENST00000372413.3_Missense_Mutation_p.A1329V|PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.A1338V	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	1338					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ACCGACCTGGCGGACAACATC	0.597													T	44079328	C	T	44079328	3	4	359	1	0	0	0	0	1	0	0	0	12889	768	27	1	4095	1	PTPRF	1	44079328	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	2500141	44079328	205171293	2	23288											
HRNR	388697	broad.mit.edu	37	chr1	152188371	152188371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagctagatccgtgttGttcacccctagatgactgtc	8	12	9	12	1	1	4	1	2	0	2	3	4	2	4	4	0	1	3	4	0	2	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:152188371G>T	ENST00000368801.2	-	3	5809	c.5734C>A	c.(5734-5736)Caa>Aaa	p.Q1912K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1912					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTTGTTCACCCCTA	0.557													T	152188371	G	T	152188371	3	4	359	1	0	0	0	0	1	0	0	0	7414	1386	48	4	2822	4	HRNR	1	152188371	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	108109043	152188371	97062250	3	23289											
CFHR5	81494	broad.mit.edu	37	chr1	196973949	196973949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacatgcagaaataaacagTggtcagaaccaccaagatgc	18	6	8	9	0	1	3	1	0	0	3	1	3	1	3	2	1	5	1	2	1	6	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:196973949T>C	ENST00000367414.5	+	9	1617	c.1561T>C	c.(1561-1563)Tgg>Cgg	p.W521R	CFHR5_ENST00000256785.4_Missense_Mutation_p.W497R	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	497	Sushi 9.		L -> I (in dbSNP:rs35957013).		complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						AAATAAACAGTGGTCAGAACC	0.378													C	196973949	T	C	196973949	3	2	359	1	0	0	0	0	1	0	0	0	3318	1696	59	3	1523	3	CFHR5	1	196973949	Missense_Mutation	SNP	T	TCGA-DU-5855-01A-11D-1705-08	44785578	196973949	52276672	4	23290											
TMEM9	252839	broad.mit.edu	37	chr1	201112999	201112999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtatatgcatccggctttcgGatcagagggtccaccagcat	9	10	11	11	2	1	1	1	0	0	1	4	2	3	2	3	3	2	4	3	3	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:201112999G>C	ENST00000367330.1	-	4	864	c.348C>G	c.(346-348)atC>atG	p.I116M	TMEM9_ENST00000485839.2_Missense_Mutation_p.I116M|TMEM9_ENST00000472411.1_5'UTR|TMEM9_ENST00000367334.5_Missense_Mutation_p.I116M|TMEM9_ENST00000367332.1_Missense_Mutation_p.I119M|TMEM9_ENST00000367333.2_Missense_Mutation_p.I116M			Q9P0T7	TMEM9_HUMAN	transmembrane protein 9	116					transport	integral to membrane|late endosome membrane|lysosomal membrane				liver(1)|lung(1)|stomach(1)	3		Breast(1374;0.000301)				CCGGCTTTCGGATCAGAGGGT	0.572													C	201112999	G	C	201112999	3	2	359	1	0	0	0	0	1	0	0	0	16317	1164	41	4	211	4	TMEM9	1	201112999	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	4139050	201112999	48137622	5	23291											
MDM4	4194	broad.mit.edu	37	chr1	204518349	204518349	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagattgttcaaagttaAcccattctctctccacgtct	10	15	4	12	1	5	1	2	0	3	1	7	1	5	1	2	0	1	2	2	0	2	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:204518349A>C	ENST00000367182.3	+	11	1174	c.1012A>C	c.(1012-1014)Acc>Ccc	p.T338P	MDM4_ENST00000391947.2_3'UTR|MDM4_ENST00000367183.3_Intron|MDM4_ENST00000463049.1_3'UTR|MDM4_ENST00000507825.2_Intron|MDM4_ENST00000454264.2_Missense_Mutation_p.T288P	NM_001204171.1|NM_001278516.1|NM_001278517.1|NM_001278518.1|NM_001278519.1|NM_002393.4	NP_001191100.1|NP_001265445.1|NP_001265446.1|NP_001265447.1|NP_001265448.1|NP_002384.2	O15151	MDM4_HUMAN	Mdm4 p53 binding protein homolog (mouse)	338					apoptosis|cell proliferation|cellular response to hypoxia|G0 to G1 transition|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of protein catabolic process|negative regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization	nucleus	enzyme binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00146)|all_neural(3;0.0218)|Glioma(3;0.0382)|Breast(84;0.112)|all_epithelial(62;0.118)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;3.15e-47)|all cancers(3;3.56e-32)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|Epithelial(59;0.143)|BRCA - Breast invasive adenocarcinoma(75;0.143)			TTCAAAGTTAACCCATTCTCT	0.428			A		"GBM, bladder, retinoblastoma"								C	204518349	A	C	204518349	3	2	359	1	0	0	0	0	1	0	0	0	9489	43	2	5	1050	5	MDM4	1	204518349	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	3405350	204518349	44732272	6	23292											
HHIPL2	79802	broad.mit.edu	37	chr1	222717481	222717481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggagattccggagaggCgtctgggtgttttcggcgtc	4	10	17	10	5	1	2	0	0	1	2	4	4	2	2	2	5	0	1	2	5	0	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr1:222717481C>T	ENST00000343410.6	-	2	430	c.372G>A	c.(370-372)acG>acA	p.T124T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	124					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCGGAGAGGCGTCTGGGTGT	0.597													T	222717481	C	T	222717481	2	4	359	1	0	0	0	0	0	0	0	1	7149	755	27	1		1	HHIPL2	1	222717481	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	18199132	222717481	26533140	7	23293											
IFIH1	64135	broad.mit.edu	37	chr2	163134056	163134056	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcatcttctatgactgcaAacttcttatctttctcttca	9	19	2	11	0	7	1	2	1	5	0	8	1	7	1	0	0	2	1	0	0	4	7			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:163134056A>C	ENST00000263642.2	-	10	2308	c.1913T>G	c.(1912-1914)tTt>tGt	p.F638C		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	638					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						TATGACTGCAAACTTCTTATC	0.353													C	163134056	A	C	163134056	3	2	359	1	0	0	0	0	1	0	0	0	7578	14	1	5	1192	5	IFIH1	2	163134056	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		163134056	80065317	8	23294											
TTN	7273	broad.mit.edu	37	chr2	179470362	179470362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggactgccaccattactgCggggctctttccagtcaagt	7	11	11	12	1	2	0	1	0	1	0	3	1	3	1	3	3	3	1	3	3	2	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr2:179470362C>T	ENST00000589042.1	-	279	53884	c.53660G>A	c.(53659-53661)cGc>cAc	p.R17887H	TTN_ENST00000342175.6_Missense_Mutation_p.R9014H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R8947H|TTN_ENST00000460472.2_Missense_Mutation_p.R8822H|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16246H|TTN_ENST00000342992.6_Missense_Mutation_p.R15319H|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16246	Fibronectin type-III 29.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCATTACTGCGGGGCTCTTT	0.473													T	179470362	C	T	179470362	3	4	359	1	0	0	0	0	1	0	0	0	16837	768	27	1	54369	1	TTN	2	179470362	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	16336306	179470362	63729011	9	23295											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	359	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	29642750	209113112	34086261	10	23296											
FLNB	2317	broad.mit.edu	37	chr3	58094210	58094210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatacgggccaggtttggAgaaatctggatgcattgtca	11	10	13	7	1	2	1	1	0	1	1	2	3	2	2	1	4	3	3	1	4	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:58094210A>G	ENST00000357272.4	+	13	2132	c.1967A>G	c.(1966-1968)gAg>gGg	p.E656G	FLNB_ENST00000358537.3_Missense_Mutation_p.E656G|FLNB_ENST00000295956.4_Missense_Mutation_p.E656G|FLNB_ENST00000348383.5_Missense_Mutation_p.E656G|FLNB_ENST00000493452.1_Missense_Mutation_p.E487G|FLNB_ENST00000429972.2_Missense_Mutation_p.E656G|FLNB_ENST00000419752.2_Missense_Mutation_p.E487G|FLNB_ENST00000490882.1_Missense_Mutation_p.E656G			O75369	FLNB_HUMAN	filamin B, beta	656					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGGTTTGGAGAAATCTGGA	0.448													G	58094210	A	G	58094210	3	3	359	1	0	0	0	0	1	0	0	0	5983	304	11	3	2017	3	FLNB	3	58094210	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		58094210	139928220	11	23297											
LEKR1	389170	broad.mit.edu	37	chr3	156763496	156763496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaatgagactagacAgagactggctgccattctta	13	10	9	9	0	2	3	1	1	1	3	2	5	2	3	1	1	2	2	1	1	3	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:156763496A>G	ENST00000470811.1	+	14	2459	c.1124A>G	c.(1123-1125)cAg>cGg	p.Q375R	LEKR1_ENST00000356539.4_Missense_Mutation_p.Q679R			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			GAGACTAGACAGAGACTGGCT	0.547													G	156763496	A	G	156763496	3	3	359	1	0	0	0	0	1	0	0	0	8776	188	7	3	2082	3	LEKR1	3	156763496	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	98669286	156763496	41258934	12	23298											
IGF2BP2	10644	broad.mit.edu	37	chr3	185393095	185393095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacttacgttaacagccaGcatatcattttcaaaggcct	12	11	8	10	1	2	0	2	0	0	0	2	1	2	1	2	2	4	2	2	2	4	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr3:185393095G>A	ENST00000382199.2	-	9	1155	c.1060C>T	c.(1060-1062)Ctg>Ttg	p.L354L	IGF2BP2_ENST00000494906.1_5'UTR|IGF2BP2_ENST00000457616.2_Silent_p.L360L|IGF2BP2_ENST00000421047.2_Silent_p.L297L|IGF2BP2_ENST00000346192.3_Silent_p.L354L	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	354					anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TTAACAGCCAGCATATCATTT	0.463													A	185393095	G	A	185393095	2	1	359	1	0	0	0	0	0	0	0	1	7632	962	34	2		2	IGF2BP2	3	185393095	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	28629599	185393095	12629335	13	23299											
ANK2	287	broad.mit.edu	37	chr4	114280346	114280346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgccacctgttgagacCgagcactcagttcctgagga	10	9	10	12	1	2	2	1	2	1	1	3	5	3	3	4	1	2	3	4	1	1	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:114280346C>T	ENST00000357077.4	+	38	10625	c.10572C>T	c.(10570-10572)acC>acT	p.T3524T	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Silent_p.T3491T|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3491					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CTGTTGAGACCGAGCACTCAG	0.473													T	114280346	C	T	114280346	2	4	359	1	0	0	0	0	0	0	0	1	621	639	23	1		1	ANK2	4	114280346	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		114280346	76873930	14	23300											
SEC24D	9871	broad.mit.edu	37	chr4	119649799	119649799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtttcccacttcaggcaGcaatgtcttagatttaagaa	11	13	9	8	0	2	2	1	0	1	2	3	2	3	2	1	2	1	3	1	2	4	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr4:119649799G>A	ENST00000379735.5	-	22	3149	c.2878C>T	c.(2878-2880)Ctg>Ttg	p.L960L	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000280551.6_Silent_p.L959L|SEC24D_ENST00000429811.2_3'UTR|SEC24D_ENST00000511481.1_Silent_p.L590L	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	959					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						ACTTCAGGCAGCAATGTCTTA	0.303													A	119649799	G	A	119649799	2	1	359	1	0	0	0	0	0	0	0	1	14090	962	34	2		2	SEC24D	4	119649799	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	5369453	119649799	71504477	15	23301											
GFM2	84340	broad.mit.edu	37	chr5	74034187	74034187	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttaccagcagtcaatgAagggatttctacatgttggt	12	13	10	6	0	2	1	1	1	1	0	2	2	2	2	1	2	3	3	1	2	5	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:74034187A>C	ENST00000296805.3	-	14	1733	c.1276T>G	c.(1276-1278)Tca>Gca	p.S426A	GFM2_ENST00000509430.1_Missense_Mutation_p.S426A|GFM2_ENST00000345239.2_Missense_Mutation_p.S379A|GFM2_ENST00000427854.2_Missense_Mutation_p.S426A	NM_032380.3	NP_115756.2	Q969S9	RRF2M_HUMAN	G elongation factor, mitochondrial 2	426					mitochondrial translation|ribosome disassembly	mitochondrion	GTP binding|GTPase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(5)|prostate(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.86e-56)		GCAGTCAATGAAGGGATTTCT	0.333													C	74034187	A	C	74034187	3	2	359	1	0	0	0	0	1	0	0	0	6398	246	9	5	1127	5	GFM2	5	74034187	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		74034187	106881073	16	23302											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308171	140308171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccagaaatggttctgTcccagtggaaattgtgcccc	8	11	10	12	0	1	1	0	0	1	1	2	2	2	2	4	2	2	1	4	2	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:140308171T>C	ENST00000253807.2	+	1	1694	c.1694T>C	c.(1693-1695)gTc>gCc	p.V565A	PCDHA10_ENST00000506939.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.V565A|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGGTTCTGTCCCAGTGGAA	0.473													C	140308171	T	C	140308171	3	2	359	1	0	0	0	0	1	0	0	0	11608	1667	58	3	1696	3	PCDHAC1	5	140308171	Missense_Mutation	SNP	T	TCGA-DU-5855-01A-11D-1705-08	66273984	140308171	40607089	17	23303											
PCDH12	51294	broad.mit.edu	37	chr5	141335138	141335138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcctcttgggctgctggCggtaggtggactcggcctcc	2	9	18	12	2	1	0	0	0	1	0	3	1	2	1	3	8	1	3	3	8	1	2	rs139572685		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:141335138C>T	ENST00000231484.3	-	1	3489	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	760					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTGCTGGCGGTAGGTGGA	0.587													T	141335138	C	T	141335138	3	4	359	1	0	0	0	0	1	0	0	0	11586	768	27	1	1291	1	PCDH12	5	141335138	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	1026967	141335138	39580122	18	23304											
STK10	6793	broad.mit.edu	37	chr5	171520604	171520604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacccaaggtctccagggCgctgctgttgggccggctct	4	8	13	16	2	2	0	0	0	2	0	3	0	2	0	4	4	1	4	4	4	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr5:171520604C>T	ENST00000176763.5	-	9	1709	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T		NM_005990.3	NP_005981.3	O94804	STK10_HUMAN	serine/threonine kinase 10	456							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(6)|pancreas(1)|prostate(1)|testis(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47	Renal(175;0.000159)|Lung NSC(126;0.0056)|all_lung(126;0.0094)	Medulloblastoma(196;0.00868)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCTCCAGGGCGCTGCTGTTG	0.647													T	171520604	C	T	171520604	3	4	359	1	0	0	0	0	1	0	0	0	15382	768	27	1	1584	1	STK10	5	171520604	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	30185466	171520604	9394656	19	23305											
CLDN4	1364	broad.mit.edu	37	chr7	73245693	73245693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggcctatggatgaactgCgtggtgcagagcaccggcca	9	6	16	10	2	0	2	0	1	0	1	0	4	0	3	3	4	4	2	3	4	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:73245693C>T	ENST00000435050.1	+	2	2842	c.162C>T	c.(160-162)tgC>tgT	p.C54C	CLDN4_ENST00000431918.1_Silent_p.C54C|CLDN4_ENST00000340958.2_Silent_p.C54C			O14493	CLD4_HUMAN	claudin 4	54					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				GGATGAACTGCGTGGTGCAGA	0.642													T	73245693	C	T	73245693	2	4	359	1	0	0	0	0	0	0	0	1	3518	776	27	1		1	CLDN4	7	73245693	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		73245693	85892970	20	23306											
PCLO	27445	broad.mit.edu	37	chr7	82579784	82579784	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatcagactgaacggtgtAccatccttggctttgtggta	9	12	10	10	1	1	2	1	1	0	1	2	2	2	2	3	3	2	3	3	3	3	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:82579784A>G	ENST00000333891.9	-	6	10457	c.10120T>C	c.(10120-10122)Tac>Cac	p.Y3374H	PCLO_ENST00000437081.1_Missense_Mutation_p.Y94H|PCLO_ENST00000423517.2_Missense_Mutation_p.Y3374H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGAACGGTGTACCATCCTTGG	0.463													G	82579784	A	G	82579784	3	3	359	1	0	0	0	0	1	0	0	0	11659	391	14	3	5405	3	PCLO	7	82579784	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	9334091	82579784	76558879	21	23307											
LMTK2	22853	broad.mit.edu	37	chr7	97823142	97823142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggtctgaggaggtcccggGaacctccccatccgccttgg	7	7	13	14	2	1	1	0	1	1	0	4	3	4	3	6	5	1	0	6	5	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:97823142G>A	ENST00000297293.5	+	11	3658	c.3365G>A	c.(3364-3366)gGa>gAa	p.G1122E		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1122					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					GAGGTCCCGGGAACCTCCCCA	0.607													A	97823142	G	A	97823142	3	1	359	1	0	0	0	0	1	0	0	0	8920	1174	41	2	3407	2	LMTK2	7	97823142	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	15243358	97823142	61315521	22	23308											
TAF6	6878	broad.mit.edu	37	chr7	99711904	99711904	+	Frame_Shift_Del	DEL	C	C	-																															cggagaccctggcagaggaaCggggcaggcagaagaaaaag																										TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:99711904delC	ENST00000472509.1	-	1	277	c.100delG	c.(100-102)gttfs	p.V34fs	TAF6_ENST00000497233.1_Intron|TAF6_ENST00000452041.1_Intron|TAF6_ENST00000418432.2_Intron|TAF6_ENST00000437822.2_Intron|TAF6_ENST00000453269.2_Intron|TAF6_ENST00000344095.4_Intron			P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	655					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GGCAGAGGAACGGGGCAGGCA	0.567													-	99711904	C	-	99711904	7	5	359	1	0	1	0	1	0	0	0	0	15627	551	19	0		0	TAF6	7	99711904	Frame_Shift_Del	DEL	C	TCGA-DU-5855-01A-11D-1705-08	1888762	99711904	59426759	23	23309											
COG5	10466	broad.mit.edu	37	chr7	107204267	107204267	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccgtcctgcagaagttcccgGactgtagctgcagccgctcc	6	8	11	16	3	0	1	0	0	0	1	3	2	3	2	5	1	4	6	5	1	2	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:107204267G>C	ENST00000393603.2	-	1	439	c.168C>G	c.(166-168)gtC>gtG	p.V56V	COG5_ENST00000347053.3_Silent_p.V56V|COG5_ENST00000297135.3_Silent_p.V56V|DUS4L_ENST00000498786.1_Intron	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	56					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						GAAGTTCCCGGACTGTAGCTG	0.667													C	107204267	G	C	107204267	2	2	359	1	0	0	0	0	0	0	0	1	3692	1161	41	4		4	COG5	7	107204267	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	7492363	107204267	51934396	24	23310											
PLXNA4	91584	broad.mit.edu	37	chr7	131848964	131848964	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggagtagcgggcctcGcccgtgatggcgtcaatggg	7	7	16	11	4	2	1	2	1	0	0	3	2	2	2	2	4	1	1	2	4	3	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:131848964G>A	ENST00000359827.3	-	24	5399	c.4437C>T	c.(4435-4437)ggC>ggT	p.G1479G	PLXNA4_ENST00000321063.4_Silent_p.G1479G			Q9HCM2	PLXA4_HUMAN	plexin A4	1479						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						AGCGGGCCTCGCCCGTGATGG	0.592													A	131848964	G	A	131848964	2	1	359	1	0	0	0	0	0	0	0	1	12199	1074	38	1		1	PLXNA4	7	131848964	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	24644697	131848964	27289699	25	23311											
SHH	6469	broad.mit.edu	37	chr7	155599004	155599004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttacctgctttcaccgagCagtggatatgtgccttggac	7	12	11	11	1	1	0	1	0	0	0	1	3	1	2	3	2	4	3	3	2	2	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr7:155599004C>T	ENST00000297261.2	-	2	698	c.548G>A	c.(547-549)tGc>tAc	p.C183Y		NM_000193.2	NP_000184.1	Q15465	SHH_HUMAN	sonic hedgehog	183			C -> F (in HPE3).|C -> R (in HPE3).|C -> Y (in HPE3).		androgen metabolic process|axon guidance|branching involved in ureteric bud morphogenesis|CD4-positive or CD8-positive, alpha-beta T cell lineage commitment|embryonic digit morphogenesis|hindbrain development|intein-mediated protein splicing|lymphoid progenitor cell differentiation|metanephric mesenchymal cell proliferation involved in metanephros development|midbrain development|negative regulation of cell migration|negative regulation of kidney smooth muscle cell differentiation|negative regulation of ureter smooth muscle cell differentiation|negative thymic T cell selection|neural crest cell migration|neuroblast proliferation|patterning of blood vessels|positive regulation of alpha-beta T cell differentiation|positive regulation of immature T cell proliferation in thymus|positive regulation of kidney smooth muscle cell differentiation|positive regulation of mesenchymal cell proliferation involved in ureter development|positive regulation of T cell differentiation in thymus|positive regulation of ureter smooth muscle cell differentiation|positive thymic T cell selection|proteolysis|sclerotome development|stem cell development|thymus development|vasculogenesis|ventral midline development	cell surface|extracellular space|membrane raft|plasma membrane	calcium ion binding|laminin-1 binding|peptidase activity|signal transducer activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00882)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTCACCGAGCAGTGGATATG	0.622													T	155599004	C	T	155599004	3	4	359	1	0	0	0	0	1	0	0	0	14373	710	25	2	848	2	SHH	7	155599004	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	23750040	155599004	3539659	26	23312											
VPS13B	157680	broad.mit.edu	37	chr8	100396486	100396486	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagcagttaatattgacccaAtcttatatacgtggctcatc	12	14	6	9	1	2	1	1	1	1	0	3	1	2	1	1	1	2	3	1	1	7	7			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:100396486A>C	ENST00000395996.1	+	20	2986	c.2875A>C	c.(2875-2877)Atc>Ctc	p.I959L	VPS13B_ENST00000358544.2_Missense_Mutation_p.I959L|VPS13B_ENST00000357162.2_Missense_Mutation_p.I959L			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	959					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATTGACCCAATCTTATATAC	0.308													C	100396486	A	C	100396486	3	2	359	1	0	0	0	0	1	0	0	0	17292	101	4	5	3072	5	VPS13B	8	100396486	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		100396486	45967536	27	23313											
EPPK1	83481	broad.mit.edu	37	chr8	144942235	144942235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctcgtgcgtgttggggtcGaagaagcccttggtgtcgtc	4	13	15	9	4	1	1	0	0	1	1	5	2	1	1	1	3	2	1	1	3	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr8:144942235G>A	ENST00000525985.1	-	2	5258	c.5187C>T	c.(5185-5187)ttC>ttT	p.F1729F				P58107	EPIPL_HUMAN	epiplakin 1	1729						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.622													A	144942235	G	A	144942235	2	1	359	1	0	0	0	0	0	0	0	1	5231	1049	37	1		1	EPPK1	8	144942235	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	44545749	144942235	1421787	28	23314											
SVEP1	79987	broad.mit.edu	37	chr9	113139596	113139596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctctggacaggaacaagCatttgggcgttggcagatgc	9	8	14	10	1	1	1	0	0	1	1	1	3	1	3	1	4	3	3	1	4	2	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr9:113139596C>A	ENST00000401783.2	-	45	10795	c.10459G>T	c.(10459-10461)Gct>Tct	p.A3487S	SVEP1_ENST00000374469.1_Missense_Mutation_p.A3464S|SVEP1_ENST00000297826.5_Missense_Mutation_p.A1413S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3487					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CAGGAACAAGCATTTGGGCGT	0.507													A	113139596	C	A	113139596	3	1	359	1	0	0	0	0	1	0	0	0	15516	710	25	4	272	4	SVEP1	9	113139596	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		113139596	28073835	29	23315											
ITIH2	3698	broad.mit.edu	37	chr10	7780699	7780699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggtgctagagtccacGccacccccacatgtgatgag	9	8	10	14	1	1	3	1	2	1	1	3	3	2	3	4	1	1	1	4	1	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr10:7780699G>A	ENST00000358415.4	+	16	2239	c.2073G>A	c.(2071-2073)acG>acA	p.T691T	ITIH2_ENST00000379587.4_Silent_p.T680T	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	691					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGAGTCCACGCCACCCCCAC	0.562													A	7780699	G	A	7780699	2	1	359	1	0	0	0	0	0	0	0	1	7962	1074	38	1		1	ITIH2	10	7780699	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08		7780699	127754048	30	23316											
RAG1	5896	broad.mit.edu	37	chr11	36596675	36596675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtgatggaatgggagaCgtgagtgagaagcatgggag	11	9	18	3	1	1	4	0	3	1	2	1	8	1	6	0	3	1	1	0	3	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:36596675C>T	ENST00000299440.5	+	2	1933	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	607					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GAATGGGAGACGTGAGTGAGA	0.468									Familial Hemophagocytic Lymphohistiocytosis				T	36596675	C	T	36596675	2	4	359	1	0	0	0	0	0	0	0	1	13091	535	19	1		1	RAG1	11	36596675	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		36596675	98409841	31	23317											
ACTN3	89	broad.mit.edu	37	chr11	66326855	66326855	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgcgctggcccaggagctCaagtaggcggggcctcgcgg	5	4	18	14	5	1	0	1	0	0	0	2	1	1	1	3	6	1	3	3	6	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:66326855C>T	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							CCCAGGAGCTCAAGTAggcgg	0.731													T	66326855	C	T	66326855	1	4	359	0	1	0	0	0	0	0	0	0	206	813	29	2		2	ACTN3	11	66326855	RNA	SNP	C	TCGA-DU-5855-01A-11D-1705-08	29730180	66326855	68679661	32	23318											
TRAPPC4	51399	broad.mit.edu	37	chr11	118890880	118890880	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctttgccatcggctcccAgctgtctcctgaacagggaa	7	10	10	14	1	2	1	0	1	2	0	5	2	3	2	3	2	3	3	3	2	2	1	rs78676902		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:118890880A>C	ENST00000533632.1	+	3	735	c.371A>C	c.(370-372)cAg>cCg	p.Q124P	TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Q124P|TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Q81P|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000434101.2_Intron|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Q124P	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	124					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		ATCGGCTCCCAGCTGTCTCCT	0.498													C	118890880	A	C	118890880	3	2	359	1	0	0	0	0	1	0	0	0	16562	188	7	5	381	5	TRAPPC4	11	118890880	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	52564025	118890880	16115636	33	23319											
SORL1	6653	broad.mit.edu	37	chr11	121421301	121421301	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggtgacagctaccggAagatttctggggacacttgt	8	10	16	7	1	1	2	0	1	1	1	1	4	1	4	1	6	2	1	1	6	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr11:121421301A>G	ENST00000260197.7	+	16	2317	c.2188A>G	c.(2188-2190)Aag>Gag	p.K730E		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	730					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CAGCTACCGGAAGATTTCTGG	0.557													G	121421301	A	G	121421301	3	3	359	1	0	0	0	0	1	0	0	0	15028	247	9	3	2250	3	SORL1	11	121421301	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	2530421	121421301	13585215	34	23320											
WNK1	65125	broad.mit.edu	37	chr12	989896	989896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgtcacagggcttcccaCctcgactgccaccacagtac	8	9	7	17	1	2	0	1	0	1	0	4	1	3	0	4	1	2	2	4	1	1	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:989896C>T	ENST00000537687.1	+	12	4265	c.3622C>T	c.(3622-3624)Cct>Tct	p.P1208S	WNK1_ENST00000315939.6_Missense_Mutation_p.P948S|WNK1_ENST00000530271.2_Missense_Mutation_p.P1446S|WNK1_ENST00000535572.1_Intron|WNK1_ENST00000340908.4_Missense_Mutation_p.P541S	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	948					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGGCTTCCCACCTCGACTGCC	0.468													T	989896	C	T	989896	3	4	359	1	0	0	0	0	1	0	0	0	17479	507	18	2	4390	2	WNK1	12	989896	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		989896	132861999	35	23321											
ETV6	2120	broad.mit.edu	37	chr12	12022865	12022865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatggtctctgtctcccCgcctgaagagcacgccatgc	7	9	9	16	2	3	2	1	1	2	1	5	2	3	2	4	1	2	1	4	1	1	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:12022865C>A	ENST00000396373.4	+	5	1245	c.971C>A	c.(970-972)cCg>cAg	p.P324Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	324						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				TCTGTCTCCCCGCCTGAAGAG	0.587			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								A	12022865	C	A	12022865	3	1	359	1	0	0	0	0	1	0	0	0	5324	652	23	4	989	4	ETV6	12	12022865	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	11032969	12022865	121829030	36	23322											
ARID2	196528	broad.mit.edu	37	chr12	46245951	46245960	+	Frame_Shift_Del	DEL	ATCAAAAGTG	ATCAAAAGTG	-																															aacaaatagacatgcaagatAtcaaaagtgatttgagaaaa																										TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:46245951_46245960delATCAAAAGTG	ENST00000334344.6	+	15	4217_4226	c.4045_4054delATCAAAAGTG	c.(4045-4056)atcaaaagtgatfs	p.IKSD1349fs	ARID2_ENST00000444670.1_Frame_Shift_Del_p.IKSD959fs|ARID2_ENST00000422737.1_Frame_Shift_Del_p.IKSD1200fs|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1349					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGCAAGATATCAAAAGTGATTTGAGAAA	0.357			"N, S, F"		hepatocellular carcinoma								-	46245960	ATCAAAAGTG	-	46245951	7	5	359	1	0	1	0	1	0	0	0	0	918	449	16	0	4103	0	ARID2	12	46245951	Frame_Shift_Del	DEL	ATCAAAAGTG	TCGA-DU-5855-01A-11D-1705-08	34223086	46245951	87605944	37	23323											
KRT73	319101	broad.mit.edu	37	chr12	53008406	53008406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttgatttctccatccaggGcatccaccttggcctgcagc	7	11	8	15	0	1	1	0	1	1	0	4	1	3	1	5	2	2	2	5	2	0	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:53008406G>A	ENST00000305748.3	-	4	810	c.776C>T	c.(775-777)gCc>gTc	p.A259V	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	259	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCATCCAGGGCATCCACCTT	0.542													A	53008406	G	A	53008406	3	1	359	1	0	0	0	0	1	0	0	0	8544	1203	42	2	870	2	KRT73	12	53008406	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	6762455	53008406	80843489	38	23324											
KCNMB4	27345	broad.mit.edu	37	chr12	70824288	70824288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgatgtgcttctgcatcGcactcatgatgagattgtcc	9	13	10	9	1	2	4	1	3	1	2	4	5	3	4	1	0	2	3	1	0	0	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:70824288G>A	ENST00000258111.4	+	3	947	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	163					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			CTTCTGCATCGCACTCATGAT	0.488													A	70824288	G	A	70824288	3	1	359	1	0	0	0	0	1	0	0	0	8135	1087	38	1	498	1	KCNMB4	12	70824288	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	17815882	70824288	63027607	39	23325											
FGD6	55785	broad.mit.edu	37	chr12	95535225	95535225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgagctcatacagctgagGcaagtagtataggatctgat	12	11	12	6	0	2	3	1	3	1	0	2	4	2	4	0	2	3	6	0	2	5	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr12:95535225G>A	ENST00000343958.4	-	6	2999	c.2776C>T	c.(2776-2778)Cct>Tct	p.P926S	FGD6_ENST00000549499.1_Missense_Mutation_p.P926S|FGD6_ENST00000546711.1_Missense_Mutation_p.P926S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	926	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TACAGCTGAGGCAAGTAGTAT	0.448													A	95535225	G	A	95535225	3	1	359	1	0	0	0	0	1	0	0	0	5886	1203	42	2	1580	2	FGD6	12	95535225	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	24710937	95535225	38316670	40	23326											
SOHLH2	54937	broad.mit.edu	37	chr13	36776075	36776075	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaggcaccttcaagagAaccatgttgaatatgcaatc	16	8	9	8	0	1	3	1	1	0	2	2	5	1	3	2	1	2	3	2	1	7	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr13:36776075A>G	ENST00000379881.3	-	2	292	c.204T>C	c.(202-204)gtT>gtC	p.V68V	SOHLH2_ENST00000554962.1_Silent_p.V145V|SOHLH2_ENST00000317764.6_Silent_p.V68V|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.V145V	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		CCTTCAAGAGAACCATGTTGA	0.423													G	36776075	A	G	36776075	2	3	359	1	0	0	0	0	0	0	0	1	15018	233	9	3		3	SOHLH2	13	36776075	Silent	SNP	A	TCGA-DU-5855-01A-11D-1705-08		36776075	78393803	41	23327											
FNDC3A	22862	broad.mit.edu	37	chr13	49710555	49710555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaaaaattgaaggatcGccaaggaacacagaaagata	21	4	10	6	1	0	4	0	1	0	3	1	6	0	6	1	2	1	1	1	2	8	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr13:49710555G>A	ENST00000492622.2	+	6	883	c.578G>A	c.(577-579)cGc>cAc	p.R193H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.R193H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.R137H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	193						Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TTGAAGGATCGCCAAGGAACA	0.388													A	49710555	G	A	49710555	3	1	359	1	0	0	0	0	1	0	0	0	6018	1087	38	1	607	1	FNDC3A	13	49710555	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	12934480	49710555	65459323	42	23328											
NGDN	25983	broad.mit.edu	37	chr14	23940135	23940135	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgatggctgtaactgcacaAgtgaaatcactgacacaaaa	16	8	9	8	0	1	3	1	3	0	0	1	3	1	3	0	1	2	3	0	1	5	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:23940135A>G	ENST00000397154.3	+	3	106	c.93A>G	c.(91-93)caA>caG	p.Q31Q	NGDN_ENST00000408901.3_Silent_p.Q31Q			Q8NEJ9	NGDN_HUMAN	neuroguidin, EIF4E binding protein	31					regulation of translation	axon|cytoplasm|dendrite|filopodium|nucleus				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	12	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		TAACTGCACAAGTGAAATCAC	0.368													G	23940135	A	G	23940135	2	3	359	1	0	0	0	0	0	0	0	1	10469	69	3	3		3	NGDN	14	23940135	Silent	SNP	A	TCGA-DU-5855-01A-11D-1705-08		23940135	83409405	43	23329											
CTAGE5	4253	broad.mit.edu	37	chr14	39784908	39784908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatttcccatgagaaaaaaGcacatgataattgggtaagt	16	12	8	5	0	0	2	0	2	0	1	1	3	1	2	1	1	1	2	1	1	6	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:39784908G>A	ENST00000553728.1	+	20	3196	c.2983G>A	c.(2983-2985)Gca>Aca	p.A995T	CTAGE5_ENST00000341502.5_Missense_Mutation_p.A460T|RP11-407N17.3_ENST00000603904.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000341749.3_Missense_Mutation_p.A448T|CTAGE5_ENST00000396165.4_Missense_Mutation_p.A431T|CTAGE5_ENST00000396158.2_Missense_Mutation_p.A465T|CTAGE5_ENST00000557038.1_Missense_Mutation_p.A380T|CTAGE5_ENST00000553352.1_Missense_Mutation_p.A431T|CTAGE5_ENST00000556148.1_Missense_Mutation_p.A385T|CTAGE5_ENST00000348007.3_Missense_Mutation_p.A460T|CTAGE5_ENST00000280083.3_Missense_Mutation_p.A460T																							TGAGAAAAAAGCACATGATAA	0.254													A	39784908	G	A	39784908	3	1	359	1	0	0	0	0	1	0	0	0	4027	971	34	2	1471	2	CTAGE5	14	39784908	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	15844773	39784908	67564632	44	23330											
CCDC88C	440193	broad.mit.edu	37	chr14	91755473	91755473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacagacccgttgtgggCgtcgcgctcttctgcacagt	5	9	11	16	4	2	1	0	0	2	1	3	1	2	1	3	1	1	3	3	1	0	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr14:91755473C>T	ENST00000389857.6	-	25	4503	c.4417G>A	c.(4417-4419)Gcc>Acc	p.A1473T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1473					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCGTTGTGGGCGTCGCGCTCT	0.701													T	91755473	C	T	91755473	3	4	359	1	0	0	0	0	1	0	0	0	2893	768	27	1	1693	1	CCDC88C	14	91755473	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	51970565	91755473	15594067	45	23331											
EIF2AK4	440275	broad.mit.edu	37	chr15	40241413	40241413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaaatgctggaaaggCgggctcaggaggagcagcag	14	4	17	6	1	1	2	1	1	0	1	1	5	1	5	0	5	3	4	0	5	3	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40241413C>T	ENST00000263791.5	+	4	500	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.R153W|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.R153W	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	153					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GCTGGAAAGGCGGGCTCAGGA	0.537													T	40241413	C	T	40241413	3	4	359	1	0	0	0	0	1	0	0	0	5038	759	27	1	471	1	EIF2AK4	15	40241413	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08		40241413	62289979	46	23332											
BUB1B	701	broad.mit.edu	37	chr15	40509802	40509802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggatgtttttaccctcagCggctttcggactgtacagat	7	14	10	10	2	1	1	1	0	0	1	2	3	1	3	1	3	3	3	1	3	2	5	rs139066741	by1000genomes	TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr15:40509802C>T	ENST00000287598.6	+	21	2979	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	RP11-133K1.2_ENST00000558658.1_Silent_p.S5S|BUB1B_ENST00000412359.3_Silent_p.S942S|PAK6_ENST00000441369.1_5'UTR|PAK6_ENST00000453867.1_5'UTR	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	928	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TTACCCTCAGCGGCTTTCGGA	0.443			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				T	40509802	C	T	40509802	2	4	359	1	0	0	0	0	0	0	0	1	1581	767	27	1		1	BUB1B	15	40509802	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	268389	40509802	62021590	47	23333											
NLRP1	22861	broad.mit.edu	37	chr17	5437261	5437261	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggatgtgctattactcAtctctcccgtatccaggccc	7	12	9	13	1	2	1	1	1	1	0	5	2	4	2	3	2	2	2	3	2	3	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:5437261A>T	ENST00000345221.3	-	9	3562	c.3008T>A	c.(3007-3009)aTg>aAg	p.M1003K	NLRP1_ENST00000577119.1_Missense_Mutation_p.M973K|NLRP1_ENST00000262467.5_Missense_Mutation_p.M1003K|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.M973K|NLRP1_ENST00000269280.4_Missense_Mutation_p.M1003K|NLRP1_ENST00000572272.1_Missense_Mutation_p.M1003K	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1003					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GCTATTACTCATCTCTCCCGT	0.537													T	5437261	A	T	5437261	3	4	359	1	0	0	0	0	1	0	0	0	10547	217	8	5	1524	5	NLRP1	17	5437261	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08		5437261	75757949	48	23334											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	359	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	2139860	7577121	73618089	49	23335											
PIGS	94005	broad.mit.edu	37	chr17	26890906	26890906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgataggccttctggaaacgGcatttgattttcattttgtc	8	16	9	8	2	2	1	1	1	1	0	3	3	2	2	1	3	1	1	1	3	2	7			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:26890906G>A	ENST00000308360.7	-	4	681	c.306C>T	c.(304-306)tgC>tgT	p.C102C	PIGS_ENST00000395346.2_Silent_p.C94C|PIGS_ENST00000543734.1_Silent_p.C41C	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	102					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCTGGAAACGGCATTTGATTT	0.512													A	26890906	G	A	26890906	2	1	359	1	0	0	0	0	0	0	0	1	11975	1195	42	2		2	PIGS	17	26890906	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	19313785	26890906	54304304	50	23336											
AATF	26574	broad.mit.edu	37	chr17	35345964	35345964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacagtctacaggaaccGcacacttcagaaatggcacg	13	8	8	12	2	2	1	1	0	1	1	2	2	2	2	1	2	3	2	1	2	4	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:35345964G>A	ENST00000225402.5	+	6	1345	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	365	RB1 binding.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TACAGGAACCGCACACTTCAG	0.507													A	35345964	G	A	35345964	3	1	359	1	0	0	0	0	1	0	0	0	25	1087	38	1	1116	1	AATF	17	35345964	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	8455058	35345964	45849246	51	23337											
PSMD3	5709	broad.mit.edu	37	chr17	38151212	38151212	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactctgtccaggtgcaCaagcttctcatcgtggtgga	7	12	11	11	1	3	0	2	0	2	0	6	1	4	1	1	3	2	2	1	3	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38151212C>G	ENST00000264639.4	+	7	1161	c.987C>G	c.(985-987)caC>caG	p.H329Q	PSMD3_ENST00000541736.1_Missense_Mutation_p.H191Q	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	329					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					TCCAGGTGCACAAGCTTCTCA	0.572													G	38151212	C	G	38151212	3	3	359	1	0	0	0	0	1	0	0	0	12784	477	17	4	1013	4	PSMD3	17	38151212	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	2805248	38151212	43043998	52	23338											
CCR7	1236	broad.mit.edu	37	chr17	38711759	38711759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttgcaaaagtggacaccGaagacccaggacttggccgc	12	5	12	12	2	0	1	0	0	0	1	0	4	0	3	3	3	2	2	3	3	3	2			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:38711759G>A	ENST00000246657.2	-	3	434	c.372C>T	c.(370-372)ttC>ttT	p.F124F	CCR7_ENST00000579344.1_Silent_p.F118F	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	124					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				AGTGGACACCGAAGACCCAGG	0.552													A	38711759	G	A	38711759	2	1	359	1	0	0	0	0	0	0	0	1	2976	1049	37	1		1	CCR7	17	38711759	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	560547	38711759	42483451	53	23339											
HDAC5	10014	broad.mit.edu	37	chr17	42169818	42169818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aataacagtcccatccttgcGacgcaggaggggactgcttc	10	8	11	12	2	0	0	0	0	0	0	3	3	2	2	2	3	3	2	2	3	2	3	rs138137922		TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr17:42169818G>A	ENST00000225983.6	-	8	1176	c.853C>T	c.(853-855)Cgc>Tgc	p.R285C	HDAC5_ENST00000393622.2_Missense_Mutation_p.R284C|HDAC5_ENST00000586802.1_Missense_Mutation_p.R284C|HDAC5_ENST00000336057.5_Missense_Mutation_p.R284C			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	284					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding	p.R284S(1)		central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		CCATCCTTGCGACGCAGGAGG	0.537													A	42169818	G	A	42169818	3	1	359	1	0	0	0	0	1	0	0	0	7065	1058	37	1	2598	1	HDAC5	17	42169818	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	3458059	42169818	39025392	54	23340											
KLHL14	57565	broad.mit.edu	37	chr18	30349844	30349844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacggacatctggaagagCgccagctccgactccacggg	10	4	13	14	4	1	1	0	0	1	1	3	4	3	3	3	3	3	2	3	3	1	0			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr18:30349844C>T	ENST00000359358.4	-	2	1149	c.711G>A	c.(709-711)gcG>gcA	p.A237A	KLHL14_ENST00000358095.4_Silent_p.A237A|AC012123.1_ENST00000426194.1_Silent_p.S24S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	237	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTGGAAGAGCGCCAGCTCCG	0.657													T	30349844	C	T	30349844	2	4	359	1	0	0	0	0	0	0	0	1	8428	755	27	1		1	KLHL14	18	30349844	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		30349844	47727404	55	23341											
MBP	4155	broad.mit.edu	37	chr18	74729068	74729068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgttgtcctccctccccgggGcatctcgggaaaagaggcgg	6	8	14	13	3	1	1	0	0	1	1	5	2	4	2	4	5	0	2	4	5	2	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr18:74729068G>A	ENST00000397860.3	-	4	510	c.296C>T	c.(295-297)gCc>gTc	p.A99V	MBP_ENST00000354542.4_5'UTR|MBP_ENST00000580402.1_Missense_Mutation_p.A99V|MBP_ENST00000397863.1_Missense_Mutation_p.A99V|MBP_ENST00000579129.1_Missense_Mutation_p.A99V|MBP_ENST00000487778.1_5'UTR|MBP_ENST00000355994.2_Missense_Mutation_p.A99V	NM_001025100.1	NP_001020271.1	P02686	MBP_HUMAN	myelin basic protein	99					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CCTCCCCGGGGCATCTCGGGA	0.632													A	74729068	G	A	74729068	3	1	359	1	0	0	0	0	1	0	0	0	9434	1203	42	2	742	2	MBP	18	74729068	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	44379224	74729068	3348180	56	23342											
EEF2	1938	broad.mit.edu	37	chr19	3977234	3977234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggactcgttgacgggcaGataggccttgaccacaaaca	14	6	11	10	2	0	3	0	2	0	1	1	4	0	4	2	3	1	2	2	3	3	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:3977234G>A	ENST00000309311.6	-	14	2450	c.2362C>T	c.(2362-2364)Ctg>Ttg	p.L788L		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	788						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGACGGGCAGATAGGCCTTG	0.617													A	3977234	G	A	3977234	2	1	359	1	0	0	0	0	0	0	0	1	4968	933	33	2		2	EEF2	19	3977234	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08		3977234	55151749	57	23343											
FCGBP	8857	broad.mit.edu	37	chr19	40408740	40408740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagtacacaaggtcgtaggCcacacgcaggccgaagtcgg	12	5	13	11	4	0	0	0	0	0	0	2	1	0	0	2	4	1	3	2	4	5	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:40408740C>T	ENST00000221347.6	-	8	4106	c.4099G>A	c.(4099-4101)Gcc>Acc	p.A1367T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1367	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AGGTCGTAGGCCACACGCAGG	0.587													T	40408740	C	T	40408740	3	4	359	1	0	0	0	0	1	0	0	0	5827	739	26	2	12234	2	FCGBP	19	40408740	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	36431506	40408740	18720243	58	23344											
FOSB	2354	broad.mit.edu	37	chr19	45974181	45974181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcccagcccgagccCggcctaggagaccccgagag	7	2	13	19	4	0	2	0	0	0	2	0	5	0	2	7	2	3	0	7	2	1	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:45974181C>T	ENST00000353609.3	+	2	1013	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	FOSB_ENST00000590335.1_Missense_Mutation_p.R141W|FOSB_ENST00000417353.2_Missense_Mutation_p.R141W|FOSB_ENST00000585836.1_Missense_Mutation_p.R102W|FOSB_ENST00000443841.2_Intron|FOSB_ENST00000586615.1_Missense_Mutation_p.R92W|FOSB_ENST00000592811.1_Missense_Mutation_p.R92W|FOSB_ENST00000592436.1_Missense_Mutation_p.R141W|FOSB_ENST00000591858.1_Missense_Mutation_p.R102W|ERCC1_ENST00000423698.2_Intron	NM_006732.2	NP_006723.2	P53539	FOSB_HUMAN	FBJ murine osteosarcoma viral oncogene homolog B	141					behavior|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	13		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00814)|Epithelial(262;0.18)|GBM - Glioblastoma multiforme(486;0.242)		AGCCCGAGCCCGGCCTAGGAG	0.632													T	45974181	C	T	45974181	3	4	359	1	0	0	0	0	1	0	0	0	6035	643	23	1	427	1	FOSB	19	45974181	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	5565441	45974181	13154802	59	23345											
ZNF814	730051	broad.mit.edu	37	chr19	58385268	58385268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgactgaaagatttcccaCattctccacactgataaggt	12	13	6	10	0	1	4	0	3	1	1	3	4	2	4	2	1	0	0	2	1	2	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr19:58385268C>T	ENST00000435989.2	-	3	1724	c.1490G>A	c.(1489-1491)tGt>tAt	p.C497Y	ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	497					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						AGATTTCCCACATTCTCCACA	0.448													T	58385268	C	T	58385268	3	4	359	1	0	0	0	0	1	0	0	0	18275	478	17	2	1081	2	ZNF814	19	58385268	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	12411087	58385268	743715	60	23346											
PRND	23627	broad.mit.edu	37	chr20	4705632	4705632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgctccctcaagcattgCgagttttggttggagagggg	6	12	14	9	1	2	1	1	0	1	1	3	3	3	1	1	4	3	4	1	4	1	4			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:4705632C>T	ENST00000305817.2	+	2	506	c.435C>T	c.(433-435)tgC>tgT	p.C145C		NM_012409.2	NP_036541.2	Q9UKY0	PRND_HUMAN	prion protein 2 (dublet)	145	Globular.				protein homooligomerization	anchored to membrane|plasma membrane				breast(3)|endometrium(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	13						TCAAGCATTGCGAGTTTTGGT	0.602													T	4705632	C	T	4705632	2	4	359	1	0	0	0	0	0	0	0	1	12629	776	27	1		1	PRND	20	4705632	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08		4705632	58319888	61	23347											
PLCG1	5335	broad.mit.edu	37	chr20	39795459	39795459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcaagatgaagctgcgctAtcccatcaacgaggaggcac	12	5	11	13	3	1	2	1	1	0	1	2	4	2	3	2	2	3	4	2	2	4	1			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chr20:39795459A>G	ENST00000373272.2	+	19	2666	c.2261A>G	c.(2260-2262)tAt>tGt	p.Y754C	PLCG1_ENST00000244007.3_Missense_Mutation_p.Y754C|PLCG1_ENST00000373271.1_Missense_Mutation_p.Y754C	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	754	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				AAGCTGCGCTATCCCATCAAC	0.562													G	39795459	A	G	39795459	3	3	359	1	0	0	0	0	1	0	0	0	12112	449	16	3	2335	3	PLCG1	20	39795459	Missense_Mutation	SNP	A	TCGA-DU-5855-01A-11D-1705-08	35089827	39795459	23230061	62	23348											
ASB9	140462	broad.mit.edu	37	chrX	15272893	15272893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaataaaatcttcacacaaGagagatgacctccaagacag	18	8	6	9	0	2	4	1	1	1	3	3	5	3	4	2	0	0	0	2	0	5	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:15272893G>A	ENST00000546332.1	-	4	731	c.248C>T	c.(247-249)tCt>tTt	p.S83F	ASB9_ENST00000380485.3_Missense_Mutation_p.S83F|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.S83F|ASB9_ENST00000380483.3_Missense_Mutation_p.S83F	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	83					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTCACACAAGAGAGATGACC	0.443													A	15272893	G	A	15272893	3	1	359	1	0	0	0	0	1	0	0	0	1035	942	33	2	685	2	ASB9	23	15272893	Missense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08		15272893	139997667	63	23349											
MAGEB10	139422	broad.mit.edu	37	chrX	27840125	27840125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacgatggggttatatgaCggaattgagcacttcatgtt	12	12	11	6	2	1	2	1	2	0	0	1	4	1	3	0	3	2	3	0	3	4	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:27840125C>T	ENST00000356790.2	+	3	947	c.702C>T	c.(700-702)gaC>gaT	p.D234D		NM_182506.3	NP_872312.2	Q96LZ2	MAGBA_HUMAN	melanoma antigen family B, 10	234	MAGE.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						GGTTATATGACGGAATTGAGC	0.468													T	27840125	C	T	27840125	2	4	359	1	0	0	0	0	0	0	0	1	9248	535	19	1		1	MAGEB10	23	27840125	Silent	SNP	C	TCGA-DU-5855-01A-11D-1705-08	12567232	27840125	127430435	64	23350											
ATRX	546	broad.mit.edu	37	chrX	76764102	76764102	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattcgctgaacacagctGattaactatagagaaaaaat	18	10	7	6	1	0	3	0	2	0	1	1	4	0	3	0	0	3	3	0	0	8	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76764102G>T	ENST00000373344.5	-	35	7420	c.7206C>A	c.(7204-7206)atC>atA	p.I2402I	ATRX_ENST00000395603.3_Silent_p.I2364I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2402					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			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)	GAACACAGCTGATTAACTATA	0.403			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76764102	G	T	76764102	2	4	359	1	0	0	0	0	0	0	0	1	1213	1280	45	4		4	ATRX	23	76764102	Silent	SNP	G	TCGA-DU-5855-01A-11D-1705-08	48923977	76764102	78506458	65	23351											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909629	G	A	76909629	4	1	359	1	0	0	0	0	0	1	0	0	1213	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-5855-01A-11D-1705-08	145527	76909629	78360931	66	23352											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825810	135825810	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcccatttaatgtgccttCccaccagcctccttcttcaa	7	14	3	17	0	3	0	1	0	2	0	6	0	5	0	6	0	2	0	6	0	2	5			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:135825810C>A	ENST00000250617.6	-	5	1800	c.595G>T	c.(595-597)Gaa>Taa	p.E199*	ARHGEF6_ENST00000370622.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000370620.1_Nonsense_Mutation_p.E45*|ARHGEF6_ENST00000535227.1_Nonsense_Mutation_p.E45*	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	199	SH3.			E -> G (in Ref. 2; CAD97632).	apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AATGTGCCTTCCCACCAGCCT	0.408													A	135825810	C	A	135825810	4	1	359	1	0	0	0	0	0	1	0	0	913	864	30	4	1807	4	ARHGEF6	23	135825810	Nonsense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	58916181	135825810	19444750	67	23353											
MAGEC3	139081	broad.mit.edu	37	chrX	140969496	140969496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatgccccagaaccgcCtcctgattcttattctgagt	8	11	9	13	1	2	3	0	2	2	1	3	3	3	3	5	1	2	1	5	1	2	3			TCGA-DU-5855-01A-11D-1705-08	TCGA-DU-5855-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d77baeae-05d1-4edc-ba95-7292fcc375fb	603f649f-20bf-409c-88f4-ba1b89933074	g.chrX:140969496C>A	ENST00000298296.1	+	4	823	c.823C>A	c.(823-825)Ctc>Atc	p.L275I	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	275	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGAACCGCCTCCTGATTCT	0.502													A	140969496	C	A	140969496	3	1	359	1	0	0	0	0	1	0	0	0	9257	681	24	4	837	4	MAGEC3	23	140969496	Missense_Mutation	SNP	C	TCGA-DU-5855-01A-11D-1705-08	5143686	140969496	14301064	68	23354											
ACTL8	81569	broad.mit.edu	37	chr1	18149709	18149709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctaccccatcgagcGgggccgcatcctcaactggg	7	8	11	15	3	1	0	1	0	0	0	3	1	2	0	4	3	4	2	4	3	3	3			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:18149709G>A	ENST00000375406.1	+	2	422	c.206G>A	c.(205-207)cGg>cAg	p.R69Q		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	69						cytoplasm|cytoskeleton		p.R69Q(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		CCCATCGAGCGGGGCCGCATC	0.597													A	18149709	G	A	18149709	3	1	360	1	0	0	0	0	1	0	0	0	202	1116	39	1	208	1	ACTL8	1	18149709	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		18149709	231100912	1	23355											
RAB3B	5865	broad.mit.edu	37	chr1	52442779	52442779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagttttaccatctgtcActgaagccatctgcaagaga	11	11	7	12	0	3	2	1	1	2	1	4	3	4	2	3	0	3	2	3	0	3	2			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:52442779A>G	ENST00000371655.3	-	2	223	c.11T>C	c.(10-12)gTg>gCg	p.V4A		NM_002867.3	NP_002858.2	P20337	RAB3B_HUMAN	RAB3B, member RAS oncogene family	4					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9						ACCATCTGTCACTGAAGCCAT	0.473													G	52442779	A	G	52442779	3	3	360	1	0	0	0	0	1	0	0	0	13020	159	6	3	664	3	RAB3B	1	52442779	Missense_Mutation	SNP	A	TCGA-DU-5870-01A-11D-1705-08	34293070	52442779	196807842	2	23356											
TNR	7143	broad.mit.edu	37	chr1	175336428	175336428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccatactcagtgccaggtaCcagatctatcagtggatgga	11	10	10	10	0	3	1	2	0	1	1	4	3	4	3	3	3	3	1	3	3	3	3			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:175336428C>T	ENST00000367674.2	-	10	2677	c.1969G>A	c.(1969-1971)Gta>Ata	p.V657I	TNR_ENST00000263525.2_Missense_Mutation_p.V657I			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 4.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GTGCCAGGTACCAGATCTATC	0.478													T	175336428	C	T	175336428	3	4	360	1	0	0	0	0	1	0	0	0	16438	507	18	2	2163	2	TNR	1	175336428	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08	122893649	175336428	73914193	3	23357											
SRGAP2	23380	broad.mit.edu	37	chr1	206566948	206566948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaggccatcaaagcccGgaatgagtacttgctggctt	10	9	12	10	1	1	2	1	2	0	0	1	3	1	3	2	3	3	4	2	3	4	3	rs2987928		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr1:206566948G>A	ENST00000414007.1	+	3	329	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	250					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					ATCAAAGCCCGGAATGAGTAC	0.428													A	206566948	G	A	206566948	3	1	360	1	0	0	0	0	1	0	0	0	15242	1116	39	1	503	1	SRGAP2	1	206566948	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08	31230520	206566948	42683673	4	23358											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	360	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		209113112	34086261	5	23359											
GPR125	166647	broad.mit.edu	37	chr4	22390382	22390382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagacattgaatcctgatgaTttatttcgccattttcattg	11	17	6	7	1	1	4	1	3	0	1	3	4	2	4	2	0	0	0	2	0	3	7			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr4:22390382T>C	ENST00000334304.5	-	19	3181	c.2912A>G	c.(2911-2913)aAt>aGt	p.N971S	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	971					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCCTGATGATTTATTTCGCC	0.433													C	22390382	T	C	22390382	3	2	360	1	0	0	0	0	1	0	0	0	6693	1493	52	3	1057	3	GPR125	4	22390382	Missense_Mutation	SNP	T	TCGA-DU-5870-01A-11D-1705-08		22390382	168763894	6	23360											
IRX2	153572	broad.mit.edu	37	chr5	2749842	2749842	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgggtaggccgcgctgccGtacgggtggtagctgatggc	5	8	18	10	5	0	1	0	1	0	0	0	1	0	1	2	5	4	5	2	5	4	4			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:2749842G>A	ENST00000382611.6	-	2	557	c.309C>T	c.(307-309)taC>taT	p.Y103Y	IRX2_ENST00000502957.1_5'UTR|IRX2_ENST00000302057.5_Silent_p.Y103Y	NM_001134222.1	NP_001127694.1	Q9BZI1	IRX2_HUMAN	iroquois homeobox 2	103						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)	26				GBM - Glioblastoma multiforme(108;0.204)		CCGCGCTGCCGTACGGGTGGT	0.672													A	2749842	G	A	2749842	2	1	360	1	0	0	0	0	0	0	0	1	7902	1140	40	1		1	IRX2	5	2749842	Silent	SNP	G	TCGA-DU-5870-01A-11D-1705-08		2749842	178165418	7	23361											
PIK3R1	5295	broad.mit.edu	37	chr5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgacaaacgtatgAacagcattaaaccagacctt	18	8	7	8	1	0	4	0	2	0	2	0	5	0	4	2	0	4	2	2	0	6	4			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591097	A	G	67591097	3	3	360	1	0	0	0	0	1	0	0	0	11995	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-DU-5870-01A-11D-1705-08	64841255	67591097	113324163	8	23362											
ZNF366	167465	broad.mit.edu	37	chr5	71739768	71739768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggccgccctctgcccCaaggtcacccttgctcctct	3	10	7	21	1	3	0	1	0	2	0	5	0	5	0	7	2	2	1	7	2	1	1			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:71739768C>A	ENST00000318442.5	-	5	2540	c.2050G>T	c.(2050-2052)Ggg>Tgg	p.G684W		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	684					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		CCCTCTGCCCCAAGGTCACCC	0.602													A	71739768	C	A	71739768	3	1	360	1	0	0	0	0	1	0	0	0	17971	594	21	4	188	4	ZNF366	5	71739768	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08	4148671	71739768	109175492	9	23363											
SPZ1	84654	broad.mit.edu	37	chr5	79616416	79616416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgttatcaacaaacctgCctgttagtttagccccagag	13	11	7	10	0	1	1	1	0	0	1	1	1	1	1	4	0	4	3	4	0	6	4			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:79616416C>T	ENST00000296739.4	+	1	627	c.382C>T	c.(382-384)Cct>Tct	p.P128S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AACAAACCTGCCTGTTAGTTT	0.363													T	79616416	C	T	79616416	3	4	360	1	0	0	0	0	1	0	0	0	15223	739	26	2	384	2	SPZ1	5	79616416	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08	7876648	79616416	101298844	10	23364											
PCDHA11	56138	broad.mit.edu	37	chr5	140249978	140249978	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgactgcgcgggatgggggTtcgccttctctgtgggccac	3	10	17	11	3	1	1	0	1	1	0	3	2	1	2	2	4	1	1	2	4	0	2			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr5:140249978T>C	ENST00000398640.2	+	1	1290	c.1290T>C	c.(1288-1290)ggT>ggC	p.G430G	PCDHA1_ENST00000394633.3_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGATGGGGGTTCGCCTTCTC	0.617													C	140249978	T	C	140249978	2	2	360	1	0	0	0	0	0	0	0	1	11597	1712	60	3		3	PCDHA11	5	140249978	Silent	SNP	T	TCGA-DU-5870-01A-11D-1705-08	60633562	140249978	40665282	11	23365											
FOXK1	221937	broad.mit.edu	37	chr7	4796757	4796757	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtggaacaggcattcCggaaacggaggcagaggggt	11	5	17	8	3	0	1	0	0	0	1	2	4	1	4	1	7	3	3	1	7	2	1			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr7:4796757C>G	ENST00000328914.4	+	5	1183	c.1183C>G	c.(1183-1185)Cgg>Ggg	p.R395G	FOXK1_ENST00000446823.1_Missense_Mutation_p.R232G	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	395					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		ACAGGCATTCCGGAAACGGAG	0.577													G	4796757	C	G	4796757	3	3	360	1	0	0	0	0	1	0	0	0	6065	643	23	4	1201	4	FOXK1	7	4796757	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		4796757	154341906	12	23366											
TMEM132B	114795	broad.mit.edu	37	chr12	125834002	125834003	+	Frame_Shift_Del	DEL	AG	AG	-																															ttcctttcttgtgcagtgacAgagagtcgagggattgtgga																										TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr12:125834002_125834003delAG	ENST00000299308.3	+	2	65_66	c.57_58delAG	c.(55-60)acagagfs	p.E20fs	TMEM132B_ENST00000418253.2_3'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	20						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTGCAGTGACAGAGAGTCGAGG	0.485													-	125834003	AG	-	125834002	7	5	360	1	0	1	0	1	0	0	0	0	16146	175	7	0	63	0	TMEM132B	12	125834002	Frame_Shift_Del	DEL	AG	TCGA-DU-5870-01A-11D-1705-08		125834002	8017893	13	23367											
THBS1	7057	broad.mit.edu	37	chr15	39882077	39882077	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgccaagtgcaactacctGggccactatagcgaccccat	12	6	8	15	2	0	0	0	0	0	0	0	1	0	0	5	1	5	1	5	1	6	3			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr15:39882077G>A	ENST00000260356.5	+	13	2163	c.1998G>A	c.(1996-1998)ctG>ctA	p.L666L		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	666	EGF-like 3.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GCAACTACCTGGGCCACTATA	0.602													A	39882077	G	A	39882077	2	1	360	1	0	0	0	0	0	0	0	1	15953	1335	47	2		2	THBS1	15	39882077	Silent	SNP	G	TCGA-DU-5870-01A-11D-1705-08		39882077	62649315	14	23368											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	360	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-DU-5870-01A-11D-1705-08		42791757	16337226	15	23369											
NLRP4	147945	broad.mit.edu	37	chr19	56369920	56369920	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacctgagggtgccgagggCccgactccgcaaacccagca	10	3	12	16	3	0	1	0	1	0	0	1	3	1	1	5	2	3	2	5	2	1	0			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr19:56369920C>T	ENST00000301295.6	+	3	1583	c.1161C>T	c.(1159-1161)ggC>ggT	p.G387G	NLRP4_ENST00000587891.1_Silent_p.G312G|NLRP4_ENST00000346986.5_Silent_p.G387G	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	387	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		GTGCCGAGGGCCCGACTCCGC	0.562													T	56369920	C	T	56369920	2	4	360	1	0	0	0	0	0	0	0	1	10555	726	26	2		2	NLRP4	19	56369920	Silent	SNP	C	TCGA-DU-5870-01A-11D-1705-08	13578163	56369920	2759063	16	23370											
FBLN1	2192	broad.mit.edu	37	chr22	45996261	45996261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgaactatgtggtcGggggcgtggtctcccaccga	7	9	16	9	3	1	2	0	1	1	1	3	4	1	2	2	5	1	0	2	5	2	1			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chr22:45996261G>A	ENST00000348697.2	+	20	2194	c.2047G>A	c.(2047-2049)Ggg>Agg	p.G683R	FBLN1_ENST00000327858.6_Missense_Mutation_p.G683R			P23142	FBLN1_HUMAN	fibulin 1	683					interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CTATGTGGTCGGGGGCGTGGT	0.612													A	45996261	G	A	45996261	3	1	360	1	0	0	0	0	1	0	0	0	5747	1116	39	1	2593	1	FBLN1	22	45996261	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		45996261	5308305	17	23371											
CD40LG	959	broad.mit.edu	37	chrX	135741431	135741431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaatacccacagttccGccaaaccttgcgggcaacaa	13	6	7	15	2	0	0	0	0	0	0	1	0	1	0	4	1	5	3	4	1	5	3			TCGA-DU-5870-01A-11D-1705-08	TCGA-DU-5870-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71d8a2ac-861c-4348-a5f7-b03e1a6ee007	8ecfbf90-3948-4e91-9eae-d052e56fdb4f	g.chrX:135741431G>A	ENST00000370629.2	+	5	699	c.643G>A	c.(643-645)Gcc>Acc	p.A215T	CD40LG_ENST00000370628.2_Missense_Mutation_p.A194T	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	215					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	CCACAGTTCCGCCAAACCTTG	0.493									Immune Deficiency with Hyper-IgM				A	135741431	G	A	135741431	3	1	360	1	0	0	0	0	1	0	0	0	3046	1087	38	1	661	1	CD40LG	23	135741431	Missense_Mutation	SNP	G	TCGA-DU-5870-01A-11D-1705-08		135741431	19529129	18	23372											
IL23R	149233	broad.mit.edu	37	chr1	67672664	67672664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaagaccataatttatTgggatagtcaaacaacaatt	16	11	6	8	0	1	1	1	0	0	1	1	2	1	2	2	1	3	0	2	1	7	6			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:67672664T>C	ENST00000347310.5	+	6	895	c.724T>C	c.(724-726)Tgg>Cgg	p.W242R	IL23R_ENST00000371002.1_Missense_Mutation_p.W242R|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	242	Fibronectin type-III 2.				inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CATAATTTATTGGGATAGTCA	0.353													C	67672664	T	C	67672664	3	2	361	1	0	0	0	0	1	0	0	0	7734	1812	63	3	742	3	IL23R	1	67672664	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08		67672664	181577957	1	23373											
EPHX4	253152	broad.mit.edu	37	chr1	92495797	92495797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgcagaccttccggcggcCcgcccgggagcaccctcccg	4	3	14	20	6	0	1	0	0	0	1	2	2	2	2	6	4	1	2	6	4	0	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:92495797C>T	ENST00000370383.4	+	1	259	c.161C>T	c.(160-162)cCc>cTc	p.P54L		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	54						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						TTCCGGCGGCCCGCCCGGGAG	0.706													T	92495797	C	T	92495797	3	4	361	1	0	0	0	0	1	0	0	0	5223	623	22	2	163	2	EPHX4	1	92495797	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	24823133	92495797	156754824	2	23374											
HMCN1	83872	broad.mit.edu	37	chr1	186105940	186105940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctatttcctgggatgacCgggttaacgtgttgtccaac	8	13	10	10	2	1	1	0	1	1	0	3	2	3	2	3	2	2	2	3	2	3	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr1:186105940C>T	ENST00000271588.4	+	87	13682	c.13453C>T	c.(13453-13455)Cgg>Tgg	p.R4485W	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485W	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGGGATGACCGGGTTAACGT	0.428													T	186105940	C	T	186105940	3	4	361	1	0	0	0	0	1	0	0	0	7275	643	23	1	13799	1	HMCN1	1	186105940	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	93610143	186105940	63144681	3	23375											
DQX1	165545	broad.mit.edu	37	chr2	74747092	74747092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaactgtggtcaccatccGtgtgttccagggcccgacgc	7	8	13	13	3	1	1	1	0	0	1	3	3	3	1	4	2	1	1	4	2	1	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:74747092G>A	ENST00000404568.3	-	9	1784	c.1565C>T	c.(1564-1566)aCg>aTg	p.T522M	DQX1_ENST00000393951.2_Missense_Mutation_p.T522M	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	522						nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						GTCACCATCCGTGTGTTCCAG	0.512													A	74747092	G	A	74747092	3	1	361	1	0	0	0	0	1	0	0	0	4790	1145	40	1	604	1	DQX1	2	74747092	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		74747092	168452281	4	23376											
ITGA6	3655	broad.mit.edu	37	chr2	173366539	173366539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaaagatcattatgatGccacatatcacaaggctgag	17	9	8	7	0	2	4	2	2	0	2	2	4	2	4	1	1	1	1	1	1	5	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:173366539G>A	ENST00000375221.2	+	26	3474	c.3271G>A	c.(3271-3273)Gcc>Acc	p.A1091T	ITGA6_ENST00000264106.6_Intron|ITGA6_ENST00000264107.7_Missense_Mutation_p.A1052T|ITGA6_ENST00000343713.4_Missense_Mutation_p.A1047T|ITGA6_ENST00000409532.1_Missense_Mutation_p.A933T|ITGA6_ENST00000409080.1_Intron|AC093818.1_ENST00000442417.1_RNA			P23229	ITA6_HUMAN	integrin, alpha 6	1091					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			TCATTATGATGCCACATATCA	0.363													A	173366539	G	A	173366539	3	1	361	1	0	0	0	0	1	0	0	0	7938	1319	46	2	3252	2	ITGA6	2	173366539	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	98619447	173366539	69832834	5	23377											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	361	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	35746574	209113113	34086260	6	23378											
TUBA4A	7277	broad.mit.edu	37	chr2	220115527	220115527	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttaccatctggttggcAggctcaaagcaggcattggt	9	11	11	10	0	2	0	1	0	1	0	2	0	2	0	1	5	2	5	1	5	2	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr2:220115527A>G	ENST00000392088.2	-	4	1404	c.849T>C	c.(847-849)ccT>ccC	p.P283P	TUBA4A_ENST00000248437.4_Silent_p.P298P|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	298					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTGGTTGGCAGGCTCAAAGC	0.577													G	220115527	A	G	220115527	2	3	361	1	0	0	0	0	0	0	0	1	16851	175	7	3		3	TUBA4A	2	220115527	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08	11002414	220115527	23083846	7	23379											
GPRIN3	285513	broad.mit.edu	37	chr4	90169964	90169964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcccatcttctttacacGtatgctgggcattactggag	8	13	8	12	1	2	0	0	0	2	0	3	1	3	1	2	2	3	3	2	2	3	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:90169964G>A	ENST00000609438.1	-	2	1816	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	GPRIN3_ENST00000333209.4_Missense_Mutation_p.T433M	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TTCTTTACACGTATGCTGGGC	0.468													A	90169964	G	A	90169964	3	1	361	1	0	0	0	0	1	0	0	0	6786	1145	40	1	1036	1	GPRIN3	4	90169964	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		90169964	100984312	8	23380											
RXFP1	59350	broad.mit.edu	37	chr4	159533494	159533494	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccaacattttatggActaaattctcttattctctt	10	17	2	12	0	2	0	0	0	2	0	5	1	3	1	3	1	1	0	3	1	5	7			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr4:159533494A>C	ENST00000307765.5	+	8	911	c.660A>C	c.(658-660)ggA>ggC	p.G220G	RXFP1_ENST00000470033.1_Silent_p.G187G|RXFP1_ENST00000460056.2_Silent_p.G139G|RXFP1_ENST00000343542.5_Silent_p.G220G|RXFP1_ENST00000448688.2_Silent_p.G139G	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	220						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CATTTTATGGACTAAATTCTC	0.274													C	159533494	A	C	159533494	2	2	361	1	0	0	0	0	0	0	0	1	13850	262	10	5		5	RXFP1	4	159533494	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08	69363530	159533494	31620782	9	23381											
SLCO4C1	353189	broad.mit.edu	37	chr5	101585438	101585438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggataataatatgatcgCgaacagttacaattggcatt	16	11	8	6	2	0	1	0	1	0	0	1	3	0	2	0	2	2	2	0	2	6	6			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:101585438C>T	ENST00000310954.6	-	9	1810	c.1524G>A	c.(1522-1524)tcG>tcA	p.S508S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	508	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AATATGATCGCGAACAGTTAC	0.408													T	101585438	C	T	101585438	2	4	361	1	0	0	0	0	0	0	0	1	14824	755	27	1		1	SLCO4C1	5	101585438	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08		101585438	79329822	10	23382											
ADRB2	154	broad.mit.edu	37	chr5	148207421	148207421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggagcttctgtgcctgCgcaggtcttctttgaaggcc	5	12	12	12	1	3	1	0	1	3	0	4	2	4	2	3	3	3	2	3	3	1	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:148207421C>T	ENST00000305988.4	+	1	1266	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C		NM_000024.5	NP_000015	P07550	ADRB2_HUMAN	adrenoceptor beta 2, surface	343					activation of transmembrane receptor protein tyrosine kinase activity|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|endosome to lysosome transport|positive regulation of MAPKKK cascade|receptor-mediated endocytosis	endosome|integral to plasma membrane|lysosome|receptor complex	beta2-adrenergic receptor activity|norepinephrine binding|potassium channel regulator activity|protein homodimerization activity			endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(3)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Alprenolol(DB00866)|Arformoterol(DB01274)|Bambuterol(DB01408)|Bisoprolol(DB00612)|Bitolterol(DB00901)|Bretylium(DB01158)|Carteolol(DB00521)|Carvedilol(DB01136)|Clenbuterol(DB01407)|Desipramine(DB01151)|Epinephrine(DB00668)|Fenoterol(DB01288)|Formoterol(DB00983)|Isoproterenol(DB01064)|Labetalol(DB00598)|Levobunolol(DB01210)|Metipranolol(DB01214)|Nadolol(DB01203)|Norepinephrine(DB00368)|Orciprenaline(DB00816)|Oxprenolol(DB01580)|Penbutolol(DB01359)|Pindolol(DB00960)|Pirbuterol(DB01291)|Procaterol(DB01366)|Propranolol(DB00571)|Pseudoephedrine(DB00852)|Ritodrine(DB00867)|Salbutamol(DB01001)|Salmeterol(DB00938)|Terbutaline(DB00871)|Timolol(DB00373)	TCTGTGCCTGCGCAGGTCTTC	0.493													T	148207421	C	T	148207421	3	4	361	1	0	0	0	0	1	0	0	0	341	768	27	1	1029	1	ADRB2	5	148207421	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	46621983	148207421	32707839	11	23383											
FLT4	2324	broad.mit.edu	37	chr5	180046671	180046671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgaccccacacctttcaGcattttcacggccacggtgt	7	10	8	16	3	2	1	2	1	0	0	2	1	2	1	4	2	1	2	4	2	0	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr5:180046671G>A	ENST00000261937.6	-	18	2719	c.2641C>T	c.(2641-2643)Ctg>Ttg	p.L881L	FLT4_ENST00000502649.1_Silent_p.L881L|FLT4_ENST00000393347.3_Silent_p.L881L	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	881	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	ACACCTTTCAGCATTTTCACG	0.657													A	180046671	G	A	180046671	2	1	361	1	0	0	0	0	0	0	0	1	5993	962	34	2		2	FLT4	5	180046671	Silent	SNP	G	TCGA-DU-5871-01A-12D-1705-08	31839250	180046671	868589	12	23384											
TSC22D4	81628	broad.mit.edu	37	chr7	100064708	100064708	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgctccagcgcagcgttCcgctccgccaattcccggat	5	9	9	18	5	0	0	0	0	0	0	5	1	5	1	6	1	3	4	6	1	1	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr7:100064708C>A	ENST00000300181.2	-	5	1816	c.1062G>T	c.(1060-1062)cgG>cgT	p.R354R	TSC22D4_ENST00000393991.1_Silent_p.R115R|TSC22D4_ENST00000496728.1_Intron	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	354	Leucine-zipper.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCGCAGCGTTCCGCTCCGCCA	0.697													A	100064708	C	A	100064708	2	1	361	1	0	0	0	0	0	0	0	1	16711	842	30	4		4	TSC22D4	7	100064708	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08		100064708	59073955	13	23385											
PCM1	5108	broad.mit.edu	37	chr8	17796415	17796415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgattggatcagcacAgtgtaaagagttgtttgctt	13	12	11	5	1	1	2	1	0	0	2	1	4	1	3	0	1	3	5	0	1	3	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:17796415A>G	ENST00000325083.8	+	5	948	c.509A>G	c.(508-510)cAg>cGg	p.Q170R	PCM1_ENST00000518537.1_Missense_Mutation_p.Q170R|PCM1_ENST00000519253.1_Missense_Mutation_p.Q170R|PCM1_ENST00000524226.1_Missense_Mutation_p.Q170R	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	170					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GGATCAGCACAGTGTAAAGAG	0.438			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								G	17796415	A	G	17796415	3	3	361	1	0	0	0	0	1	0	0	0	11660	188	7	3	519	3	PCM1	8	17796415	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08		17796415	128567607	14	23386											
PIWIL2	55124	broad.mit.edu	37	chr8	22173813	22173813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccccagtagaggcatgcGctccgtggttggcttcgtgg	5	10	15	11	3	0	2	0	1	0	1	2	2	1	2	3	4	1	5	3	4	1	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr8:22173813G>A	ENST00000356766.6	+	19	2412	c.2264G>A	c.(2263-2265)cGc>cAc	p.R755H	PIWIL2_ENST00000521356.1_Missense_Mutation_p.R755H|PIWIL2_ENST00000454009.2_Missense_Mutation_p.R755H	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	755	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AGAGGCATGCGCTCCGTGGTT	0.413													A	22173813	G	A	22173813	3	1	361	1	0	0	0	0	1	0	0	0	12035	1087	38	1	2334	1	PIWIL2	8	22173813	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	4377398	22173813	124190209	15	23387											
IFNB1	3456	broad.mit.edu	37	chr9	21077516	21077516	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaggactgtcttcagaTggtttatctgatgatagaca	10	14	9	8	0	3	4	1	2	2	2	4	5	4	5	1	2	0	1	1	2	2	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:21077516T>C	ENST00000380232.2	-	1	427	c.353A>G	c.(352-354)cAt>cGt	p.H118R		NM_002176.2	NP_002167.1	P01574	IFNB_HUMAN	interferon, beta 1, fibroblast	118					activation of caspase activity|B cell proliferation|blood coagulation|cellular response to exogenous dsRNA|defense response to virus|induction of apoptosis|natural killer cell activation|negative regulation of cell proliferation|negative regulation of T cell differentiation|negative regulation of T-helper 2 cell cytokine production|negative regulation of viral genome replication|negative regulation of viral transcription|negative regulation of virion penetration into host cell|positive regulation of innate immune response|positive regulation of transcription from RNA polymerase II promoter|regulation of MHC class I biosynthetic process|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding|transcription corepressor activity			breast(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)	12				GBM - Glioblastoma multiforme(5;7.45e-142)|Lung(24;2.42e-17)|LUSC - Lung squamous cell carcinoma(38;7.17e-11)	Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)	TGTCTTCAGATGGTTTATCTG	0.413													C	21077516	T	C	21077516	3	2	361	1	0	0	0	0	1	0	0	0	7604	1464	51	3	214	3	IFNB1	9	21077516	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08		21077516	120135915	16	23388											
CNTFR	1271	broad.mit.edu	37	chr9	34556300	34556300	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtagcgcagaaagaactTgagaggaaaagactcagggt	15	6	14	6	2	1	4	1	1	0	4	2	6	1	5	0	3	2	2	0	3	5	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr9:34556300T>C	ENST00000378980.3	-	7	1014	c.721A>G	c.(721-723)Aag>Gag	p.K241E	CNTFR_ENST00000351266.4_Missense_Mutation_p.K241E	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	241	Fibronectin type-III 2.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		AGAAAGAACTTGAGAGGAAAA	0.607													C	34556300	T	C	34556300	3	2	361	1	0	0	0	0	1	0	0	0	3669	1821	63	3	413	3	CNTFR	9	34556300	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	13478784	34556300	106657131	17	23389											
RHOBTB1	9886	broad.mit.edu	37	chr10	62648196	62648196	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactggagcagggtccgaaaAgggcctggctggactgaagc	11	5	16	9	1	0	1	0	1	0	0	1	4	1	3	2	5	3	2	2	5	4	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:62648196A>G	ENST00000337910.5	-	6	1567	c.1230T>C	c.(1228-1230)ccT>ccC	p.P410P	RHOBTB1_ENST00000357917.4_Silent_p.P410P	NM_001242359.1|NM_014836.4	NP_001229288.1|NP_055651.1	O94844	RHBT1_HUMAN	Rho-related BTB domain containing 1	410	BTB 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding			endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	Prostate(12;0.0112)					GGGTCCGAAAAGGGCCTGGCT	0.537													G	62648196	A	G	62648196	2	3	361	1	0	0	0	0	0	0	0	1	13422	59	3	3		3	RHOBTB1	10	62648196	Silent	SNP	A	TCGA-DU-5871-01A-12D-1705-08		62648196	72886551	18	23390											
SLC16A12	387700	broad.mit.edu	37	chr10	91192821	91192821	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctcaaggcctttggTcatgtgaggctgtagccagg	6	10	16	9	0	2	1	2	1	0	0	2	1	2	1	2	6	1	3	2	6	2	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr10:91192821T>C	ENST00000341233.4	-	8	1851	c.1461A>G	c.(1459-1461)tgA>tgG	p.*487W	SLC16A12_ENST00000371790.4_Nonstop_Mutation_p.*517W	NM_213606.3	NP_998771.3	Q6ZSM3	MOT12_HUMAN	solute carrier family 16, member 12	0						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|skin(1)|stomach(1)	14						AGGCCTTTGGTCATGTGAGGC	0.478													C	91192821	T	C	91192821	4	2	361	1	0	0	0	0	0	0	0	0	14499	1680	58	3	3	3	SLC16A12	10	91192821	Nonstop_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	28544625	91192821	44341926	19	23391											
OR5M10	390167	broad.mit.edu	37	chr11	56345128	56345128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccccaaacaggatcttctCtagcactgggtcgtctgtca	9	10	8	14	1	4	0	1	0	3	0	6	1	4	1	2	2	2	1	2	2	2	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:56345128C>G	ENST00000526812.2	-	1	135	c.70G>C	c.(70-72)Gag>Cag	p.E24Q		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						AGGATCTTCTCTAGCACTGGG	0.463													G	56345128	C	G	56345128	3	3	361	1	0	0	0	0	1	0	0	0	11249	922	32	4	881	4	OR5M10	11	56345128	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		56345128	78661388	20	23392											
GANAB	23193	broad.mit.edu	37	chr11	62396710	62396710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccaagctgagacacataGgaatagagatcttcaaatgg	15	7	10	9	0	2	2	1	1	1	2	2	5	2	3	2	2	1	1	2	2	5	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:62396710G>C	ENST00000346178.4	-	17	1973	c.1958C>G	c.(1957-1959)cCt>cGt	p.P653R	GANAB_ENST00000540933.1_Missense_Mutation_p.P534R|GANAB_ENST00000356638.3_Missense_Mutation_p.P631R|GANAB_ENST00000534779.1_Missense_Mutation_p.P539R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	631					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						GAGACACATAGGAATAGAGAT	0.537													C	62396710	G	C	62396710	3	2	361	1	0	0	0	0	1	0	0	0	6287	1000	35	4	978	4	GANAB	11	62396710	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	6051582	62396710	72609806	21	23393											
SNX15	29907	broad.mit.edu	37	chr11	64803113	64803113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accgaggctgagcttgccctCttcgaccccttctccaagga	7	9	9	16	2	2	1	0	1	2	0	4	4	2	2	5	2	2	2	5	2	1	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr11:64803113C>T	ENST00000377244.3	+	6	772	c.642C>T	c.(640-642)ctC>ctT	p.L214L	RP11-399J13.3_ENST00000301886.3_3'UTR|SNX15_ENST00000352068.5_Silent_p.L214L	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	214					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTTGCCCTCTTCGACCCCT	0.647													T	64803113	C	T	64803113	2	4	361	1	0	0	0	0	0	0	0	1	14980	900	32	2		2	SNX15	11	64803113	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08	2406403	64803113	70203403	22	23394											
MSI1	4440	broad.mit.edu	37	chr12	120784021	120784021	+	Frame_Shift_Del	DEL	C	C	-																															ccccgagtcctggttggccgCcccgtagagctcggccatgg																										TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr12:120784021delC	ENST00000257552.2	-	13	1052	c.964delG	c.(964-966)gcgfs	p.A323fs		NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	323					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGTTGGCCGCCCCGTAGAGC	0.706													-	120784021	C	-	120784021	7	5	361	1	0	1	0	1	0	0	0	0	9951	739	26	0	132	0	MSI1	12	120784021	Frame_Shift_Del	DEL	C	TCGA-DU-5871-01A-12D-1705-08		120784021	13067874	23	23395											
TPTE2	93492	broad.mit.edu	37	chr13	20039401	20039401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagtgtcacaaacctgtaaCgtaagtgaggtctaggtcaa	14	10	10	7	1	3	1	2	1	1	0	3	1	3	1	1	2	2	2	1	2	6	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr13:20039401C>T	ENST00000400230.2	-	9	714	c.670G>A	c.(670-672)Gtt>Att	p.V224I	TPTE2_ENST00000382977.4_Missense_Mutation_p.V224I|TPTE2_ENST00000457266.2_Missense_Mutation_p.V113I|TPTE2_ENST00000390680.2_Missense_Mutation_p.V147I|TPTE2_ENST00000382978.1_Missense_Mutation_p.V184I|TPTE2_ENST00000255310.6_Missense_Mutation_p.V147I|TPTE2_ENST00000400103.2_Missense_Mutation_p.V113I|TPTE2_ENST00000382975.4_Missense_Mutation_p.V184I			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	224	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AAACCTGTAACGTAAGTGAGG	0.323													T	20039401	C	T	20039401	3	4	361	1	0	0	0	0	1	0	0	0	16532	536	19	1	946	1	TPTE2	13	20039401	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		20039401	95130477	24	23396											
NRXN3	9369	broad.mit.edu	37	chr14	79933737	79933737	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacttggtgacttcctccagCttcacatagtgagtacaggg	9	11	11	10	0	1	2	1	2	0	0	3	3	3	2	2	2	2	2	2	2	2	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:79933737C>G	ENST00000281127.7	+	2	1300	c.421C>G	c.(421-423)Ctt>Gtt	p.L141V	NRXN3_ENST00000428277.2_Missense_Mutation_p.L141V|NRXN3_ENST00000335750.5_Missense_Mutation_p.L773V|NRXN3_ENST00000557594.1_Missense_Mutation_p.L141V|NRXN3_ENST00000554719.1_Missense_Mutation_p.L773V|NRXN3_ENST00000556003.1_3'UTR	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	141	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CTTCCTCCAGCTTCACATAGT	0.522													G	79933737	C	G	79933737	3	3	361	1	0	0	0	0	1	0	0	0	10743	797	28	4	2610	4	NRXN3	14	79933737	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		79933737	27415803	25	23397											
RIN3	79890	broad.mit.edu	37	chr14	93118181	93118181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgccctgcacgccctttgCcgcccacctctgatgccacc	5	9	7	20	2	1	1	0	1	1	0	1	1	1	1	7	0	4	1	7	0	0	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr14:93118181C>T	ENST00000216487.7	+	6	946	c.787C>T	c.(787-789)Ccg>Tcg	p.P263S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				ACGCCCTTTGCCGCCCACCTC	0.667													T	93118181	C	T	93118181	3	4	361	1	0	0	0	0	1	0	0	0	13464	739	26	2	809	2	RIN3	14	93118181	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	13184444	93118181	14231359	26	23398											
XYLT1	64131	broad.mit.edu	37	chr16	17228396	17228396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagacccaggcgggcaaagGagtggtacaaggtgagtgtc	12	5	17	7	1	0	2	0	1	0	1	1	4	0	3	1	5	1	2	1	5	4	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr16:17228396G>A	ENST00000261381.6	-	9	2045	c.1961C>T	c.(1960-1962)tCc>tTc	p.S654F	CTD-2576D5.4_ENST00000567344.1_RNA	NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	654					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCGGGCAAAGGAGTGGTACAA	0.627													A	17228396	G	A	17228396	3	1	361	1	0	0	0	0	1	0	0	0	17565	1174	41	2	934	2	XYLT1	16	17228396	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		17228396	73126357	27	23399											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	361	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		7577121	73618089	28	23400											
SLC6A4	6532	broad.mit.edu	37	chr17	28534827	28534827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgagcatttccttcaCgtccctgcagaactgagtga	10	9	10	12	2	1	3	1	2	0	1	3	5	3	3	3	0	4	2	3	0	2	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:28534827C>T	ENST00000401766.2	-	12	2085	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V525M			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	525					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATTTCCTTCACGTCCCTGCAG	0.582													T	28534827	C	T	28534827	3	4	361	1	0	0	0	0	1	0	0	0	14780	536	19	1	331	1	SLC6A4	17	28534827	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	20957706	28534827	52660383	29	23401											
FASN	2194	broad.mit.edu	37	chr17	80043423	80043423	+	Frame_Shift_Del	DEL	G	G	-																															gaaggccacgatgtccccgaGggggtgcccccggagcagtg																										TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr17:80043423delG	ENST00000306749.2	-	23	4275	c.4057delC	c.(4057-4059)ctcfs	p.L1353fs		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1353				LGDI -> SGH (in Ref. 2; AAA73576).	energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATGTCCCCGAGGGGGTGCCCC	0.706													-	80043423	G	-	80043423	7	5	361	1	0	1	0	1	0	0	0	0	5732	1000	35	0	3562	0	FASN	17	80043423	Frame_Shift_Del	DEL	G	TCGA-DU-5871-01A-12D-1705-08	51508596	80043423	1151787	30	23402											
BSG	682	broad.mit.edu	37	chr19	578038	578038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttacgagtgccgggccaGcaacgacccggatcgcaacc	10	4	11	16	5	0	0	0	0	0	0	1	3	0	1	4	2	5	2	4	2	3	1			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:578038G>A	ENST00000333511.3	+	2	402	c.332G>A	c.(331-333)aGc>aAc	p.S111N	BSG_ENST00000545507.2_Intron|BSG_ENST00000353555.4_Intron|BSG_ENST00000346916.4_Intron|BSG_ENST00000574970.1_3'UTR	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	111					blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|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)		TGCCGGGCCAGCAACGACCCG	0.682													A	578038	G	A	578038	3	1	361	1	0	0	0	0	1	0	0	0	1538	971	34	2	374	2	BSG	19	578038	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08		578038	58550945	31	23403											
ZNF77	58492	broad.mit.edu	37	chr19	2933527	2933527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatgtgcttgaagcgatGcgagatacctgaaggttttc	10	12	11	8	2	1	3	1	2	0	1	2	5	1	3	1	1	4	2	1	1	3	4			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:2933527G>A	ENST00000314531.4	-	4	1690	c.1598C>T	c.(1597-1599)gCa>gTa	p.A533V		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGAAGCGATGCGAGATACCT	0.493													A	2933527	G	A	2933527	3	1	361	1	0	0	0	0	1	0	0	0	18242	1319	46	2	43	2	ZNF77	19	2933527	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	2355489	2933527	56195456	32	23404											
GIPC3	126326	broad.mit.edu	37	chr19	3589856	3589856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttgaggaggaggcatctCggaaggttgatgacctgctg	9	10	16	6	1	1	3	0	3	1	0	2	6	1	6	1	5	1	4	1	5	1	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:3589856C>T	ENST00000322315.5	+	5	778	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	245										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAGGCATCTCGGAAGGTTGA	0.657													T	3589856	C	T	3589856	3	4	361	1	0	0	0	0	1	0	0	0	6450	875	31	1	751	1	GIPC3	19	3589856	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	656329	3589856	55539127	33	23405											
NOTCH3	4854	broad.mit.edu	37	chr19	15276774	15276774	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtcagtccgtgccccaaGctgagccccctggcagatca	8	6	11	16	2	2	2	2	1	0	1	3	2	3	2	5	2	3	2	5	2	1	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:15276774G>C	ENST00000263388.2	-	30	5566	c.5491C>G	c.(5491-5493)Ctt>Gtt	p.L1831V		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1831					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CGTGCCCCAAGCTGAGCCCCC	0.612													C	15276774	G	C	15276774	3	2	361	1	0	0	0	0	1	0	0	0	10626	971	34	4	1490	4	NOTCH3	19	15276774	Missense_Mutation	SNP	G	TCGA-DU-5871-01A-12D-1705-08	11686918	15276774	43852209	34	23406											
LILRB4	11006	broad.mit.edu	37	chr19	55178179	55178179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacacacagcctgaggaCggggtggaaatggacactcg	14	4	14	9	2	0	2	0	1	0	1	1	5	0	5	1	5	2	0	1	5	3	0	rs149652762	byFrequency	TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr19:55178179C>T	ENST00000391736.1	+	12	1335	c.1020C>T	c.(1018-1020)gaC>gaT	p.D340D	LILRB4_ENST00000270452.2_Silent_p.D340D|LILRB4_ENST00000391734.3_Silent_p.D340D|LILRB4_ENST00000430952.2_Silent_p.D340D|LILRB4_ENST00000391733.3_Silent_p.D341D	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	340						integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		AGCCTGAGGACGGGGTGGAAA	0.607													T	55178179	C	T	55178179	2	4	361	1	0	0	0	0	0	0	0	1	8853	535	19	1		1	LILRB4	19	55178179	Silent	SNP	C	TCGA-DU-5871-01A-12D-1705-08	39901405	55178179	3950804	35	23407											
LRRN4	164312	broad.mit.edu	37	chr20	6033166	6033166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctccaggtggccgagctCggaagtgctcagggcgcgca	6	6	16	13	4	1	0	1	0	0	0	3	2	2	1	2	4	3	4	2	4	1	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:6033166C>T	ENST00000378858.4	-	2	504	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	94						integral to membrane		p.E94K(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGGCCGAGCTCGGAAGTGCTC	0.741													T	6033166	C	T	6033166	3	4	361	1	0	0	0	0	1	0	0	0	9107	893	31	1	1958	1	LRRN4	20	6033166	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08		6033166	56992354	36	23408											
RPRD1B	58490	broad.mit.edu	37	chr20	36694642	36694642	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagatgttttgtcggagaAggagaaaaaactagaggtga	17	8	14	2	1	0	5	0	1	0	4	1	8	0	5	0	3	1	1	0	3	6	3			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:36694642A>C	ENST00000373433.4	+	6	1217	c.815A>C	c.(814-816)aAg>aCg	p.K272T		NM_021215.3	NP_067038.1	Q9NQG5	RPR1B_HUMAN	regulation of nuclear pre-mRNA domain containing 1B	272										endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)	12						TTGTCGGAGAAGGAGAAAAAA	0.488													C	36694642	A	C	36694642	3	2	361	1	0	0	0	0	1	0	0	0	13707	72	3	5	837	5	RPRD1B	20	36694642	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08	30661476	36694642	26330878	37	23409											
LAMA5	3911	broad.mit.edu	37	chr20	60897105	60897105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgtggcccacaggccCgcctggaacaggcacctgat	8	6	13	14	1	0	1	0	1	0	0	0	3	0	2	4	4	2	2	4	4	1	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr20:60897105C>T	ENST00000252999.3	-	48	6532	c.6466G>A	c.(6466-6468)Ggg>Agg	p.G2156R		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2156	Laminin EGF-like 22.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCACAGGCCCGCCTGGAACA	0.657													T	60897105	C	T	60897105	3	4	361	1	0	0	0	0	1	0	0	0	8668	652	23	1	4753	1	LAMA5	20	60897105	Missense_Mutation	SNP	C	TCGA-DU-5871-01A-12D-1705-08	24202463	60897105	2128415	38	23410											
CBR3	874	broad.mit.edu	37	chr21	37518618	37518618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccaggcgtctggatgaGaagaggaaagctgacaggat	12	6	16	7	1	1	3	0	2	1	2	1	7	1	6	1	5	1	1	1	5	2	0			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chr21:37518618G>A	ENST00000290354.5	+	3	923	c.642G>A	c.(640-642)gaG>gaA	p.E214E	CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608622.1_RNA|CBR3-AS1_ENST00000427491.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000413862.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	214						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						GTCTGGATGAGAAGAGGAAAG	0.567													A	37518618	G	A	37518618	2	1	361	1	0	0	0	0	0	0	0	1	2735	933	33	2		2	CBR3	21	37518618	Silent	SNP	G	TCGA-DU-5871-01A-12D-1705-08		37518618	10611277	39	23411											
ZRSR2	8233	broad.mit.edu	37	chrX	15827371	15827371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaccacccgtggatttcAgagtaatggagaaggatcga	14	7	12	8	2	1	3	1	0	0	3	2	7	1	5	2	3	1	1	2	3	3	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:15827371A>G	ENST00000307771.7	+	7	511	c.487A>G	c.(487-489)Aga>Gga	p.R163G		NM_005089.3	NP_005080.1	Q15696	U2AFM_HUMAN	zinc finger (CCCH type), RNA-binding motif and serine/arginine rich 2	163					spliceosome assembly	U12-type spliceosomal complex	nucleotide binding|pre-mRNA 3'-splice site binding|protein binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(38)|kidney(1)|large_intestine(2)|ovary(2)	48	Hepatocellular(33;0.183)					CGTGGATTTCAGAGTAATGGA	0.398			"F, S, Mis"		"MDS, CLL"								G	15827371	A	G	15827371	3	3	361	1	0	0	0	0	1	0	0	0	18324	180	7	3	513	3	ZRSR2	23	15827371	Missense_Mutation	SNP	A	TCGA-DU-5871-01A-12D-1705-08		15827371	139443189	40	23412											
ATRX	546	broad.mit.edu	37	chrX	76940443	76940447	+	Frame_Shift_Del	DEL	TCCAT	TCCAT	-																															ttacctacctacattgttcaTccattccatctgagtcacgg																								rs45572441		TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:76940443_76940447delTCCAT	ENST00000373344.5	-	8	860_864	c.646_650delATGGA	c.(646-651)atggatfs	p.MD216fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.MD178fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	216	ADD.				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)	ACATTGTTCATCCATTCCATCTGAG	0.317			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76940447	TCCAT	-	76940443	7	5	361	1	0	1	0	1	0	0	0	0	1213	1435	50	0	6940	0	ATRX	23	76940443	Frame_Shift_Del	DEL	TCCAT	TCGA-DU-5871-01A-12D-1705-08	61113072	76940443	78330117	41	23413											
ATP11C	286410	broad.mit.edu	37	chrX	138850563	138850563	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtggagccatctatgatTaatccatattcctgatgttc	11	15	7	8	0	1	2	0	2	1	0	4	3	3	3	3	1	1	1	3	1	4	5			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:138850563T>A	ENST00000370557.1	-	20	3274	c.2247A>T	c.(2245-2247)ttA>ttT	p.L749F	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000327569.3_Missense_Mutation_p.L752F|ATP11C_ENST00000370543.1_Missense_Mutation_p.L752F|ATP11C_ENST00000361648.2_Missense_Mutation_p.L752F|ATP11C_ENST00000359686.2_Missense_Mutation_p.L752F			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	752					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					CATCTATGATTAATCCATATT	0.313													A	138850563	T	A	138850563	3	1	361	1	0	0	0	0	1	0	0	0	1126	1751	61	5	1249	5	ATP11C	23	138850563	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	61910120	138850563	16419997	42	23414											
FAM58A	92002	broad.mit.edu	37	chrX	152853848	152853848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatctctgtgtccatggtaTaaatctgaatgagatcagac	12	12	10	7	0	3	3	1	2	2	2	5	5	4	4	1	2	0	1	1	2	4	2			TCGA-DU-5871-01A-12D-1705-08	TCGA-DU-5871-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	284eb475-87a9-4787-8fb6-acbd64a5e192	ffbf073f-cbe7-420a-954f-b6b9c39a9bd8	g.chrX:152853848T>A	ENST00000406277.2	-	7	818	c.716A>T	c.(715-717)tAt>tTt	p.Y239F	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	241					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCATGGTATAAATCTGAAT	0.483													A	152853848	T	A	152853848	3	1	361	1	0	0	0	0	1	0	0	0	5640	1406	49	5	28	5	FAM58A	23	152853848	Missense_Mutation	SNP	T	TCGA-DU-5871-01A-12D-1705-08	14003285	152853848	2416712	43	23415											
RERE	473	broad.mit.edu	37	chr1	8421423	8421423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcctgggggctggggAtgctcggggacgtgctgcga	4	9	19	9	3	0	0	0	0	0	0	2	3	1	2	1	6	3	3	1	6	0	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:8421423A>G	ENST00000337907.3	-	19	2778	c.2144T>C	c.(2143-2145)aTc>aCc	p.I715T	RERE_ENST00000400908.2_Missense_Mutation_p.I715T|RERE_ENST00000377464.1_Missense_Mutation_p.I447T|RERE_ENST00000476556.1_Missense_Mutation_p.I161T|RERE_ENST00000400907.2_Intron	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	715					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GGGGCTGGGGATGCTCGGGGA	0.627													G	8421423	A	G	8421423	3	3	362	1	0	0	0	0	1	0	0	0	13319	333	12	3	2580	3	RERE	1	8421423	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08		8421423	240829198	1	23416											
TAS1R2	80834	broad.mit.edu	37	chr1	19166820	19166820	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatggggcccccagccGagcgaactatgggtgtctgg	8	6	15	12	2	1	0	0	0	1	0	1	2	1	0	3	4	4	1	3	4	2	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:19166820G>T	ENST00000375371.3	-	6	1814	c.1793C>A	c.(1792-1794)tCg>tAg	p.S598*		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	598					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GCCCCCAGCCGAGCGAACTAT	0.647													T	19166820	G	T	19166820	4	4	362	1	0	0	0	0	0	1	0	0	15660	1059	37	4	730	4	TAS1R2	1	19166820	Nonsense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08	10745397	19166820	230083801	2	23417											
COL11A1	1301	broad.mit.edu	37	chr1	103380351	103380351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcttcccctttctctcctCtttctcctttgggaccctaa	4	16	4	17	0	3	0	0	0	3	0	7	1	5	1	5	1	1	1	5	1	1	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:103380351C>T	ENST00000358392.2	-	51	4186	c.3869G>A	c.(3868-3870)aGa>aAa	p.R1290K	COL11A1_ENST00000370096.3_Missense_Mutation_p.R1278K|COL11A1_ENST00000512756.1_Missense_Mutation_p.R1162K|COL11A1_ENST00000353414.4_Missense_Mutation_p.R1239K	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1278	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	p.R1278T(1)|p.R1290T(1)		NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTCTCTCCTCTTTCTCCTTT	0.453													T	103380351	C	T	103380351	3	4	362	1	0	0	0	0	1	0	0	0	3698	913	32	2	1655	2	COL11A1	1	103380351	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	84213531	103380351	145870270	3	23418											
PIAS3	10401	broad.mit.edu	37	chr1	145585437	145585437	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtaccgagggaccccttctCactttctgggcccactggcc	6	9	10	16	1	2	0	1	0	2	0	3	2	2	1	5	3	1	1	5	3	1	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr1:145585437C>G	ENST00000393045.2	+	14	1792	c.1702C>G	c.(1702-1704)Cac>Gac	p.H568D	PIAS3_ENST00000369298.1_Missense_Mutation_p.H533D	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	568					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GACCCCTTCTCACTTTCTGGG	0.637													G	145585437	C	G	145585437	3	3	362	1	0	0	0	0	1	0	0	0	11954	826	29	4	1756	4	PIAS3	1	145585437	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	42205086	145585437	103665184	4	23419											
FAM161A	84140	broad.mit.edu	37	chr2	62067511	62067511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctttacagcgaatataatCctcaacacaaaagtctgtcc	15	11	4	11	1	3	0	1	0	2	0	5	1	5	0	2	0	3	0	2	0	7	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:62067511C>A	ENST00000404929.1	-	3	639	c.628G>T	c.(628-630)Gat>Tat	p.D210Y	FAM161A_ENST00000405894.3_Missense_Mutation_p.D210Y	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	210					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAATATAATCCTCAACACAA	0.408													A	62067511	C	A	62067511	3	1	362	1	0	0	0	0	1	0	0	0	5517	855	30	4	1370	4	FAM161A	2	62067511	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08		62067511	181131862	5	23420											
BUB1	699	broad.mit.edu	37	chr2	111423902	111423902	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccacctgatgcaactTcttatgaagttcatccattt	10	14	4	13	0	2	2	1	2	1	0	4	2	4	2	4	0	2	2	4	0	3	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:111423902T>C	ENST00000535254.1	-	8	902	c.835A>G	c.(835-837)Aag>Gag	p.K279E	BUB1_ENST00000409311.1_Missense_Mutation_p.K299E|BUB1_ENST00000302759.6_Missense_Mutation_p.K299E	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	299				MKRK -> IRHE (in Ref. 7; AAC39546).	apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGATGCAACTTCTTATGAAGT	0.428													C	111423902	T	C	111423902	3	2	362	1	0	0	0	0	1	0	0	0	1580	1792	62	3	2430	3	BUB1	2	111423902	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	49356391	111423902	131775471	6	23421											
WDR33	55339	broad.mit.edu	37	chr2	128522748	128522748	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggtgattatcattacCtgtaatattgtttcaaaatt	12	18	5	6	0	3	1	2	1	1	0	3	1	3	1	1	1	1	2	1	1	6	7			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:128522748C>G	ENST00000322313.4	-	5	632	c.474G>C	c.(472-474)caG>caC	p.Q158H	WDR33_ENST00000393006.1_Splice_Site_p.Q158H|WDR33_ENST00000409658.3_Splice_Site_p.Q158H	NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	158					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)		TTATCATTACCTGTAATATTG	0.398													G	128522748	C	G	128522748	5	3	362	1	0	0	0	0	0	0	1	0	17389	695	24	4	4017	4	WDR33	2	128522748	Splice_Site	SNP	C	TCGA-DU-5872-01A-11D-1705-08	17098846	128522748	114676625	7	23422											
CPO	130749	broad.mit.edu	37	chr2	207814342	207814342	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttccctttgcagaTccttagcccaacacagacaa	11	12	4	14	0	1	2	0	0	1	2	3	2	3	2	3	0	4	1	3	0	4	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:207814342T>C	ENST00000272852.3	+	2	116	c.70T>C	c.(70-72)Tcc>Ccc	p.S24P		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	24					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCTTTGCAGATCCTTAGCCCA	0.473													C	207814342	T	C	207814342	5	2	362	1	0	0	0	0	0	0	1	0	3851	1449	50	3	76	3	CPO	2	207814342	Splice_Site	SNP	T	TCGA-DU-5872-01A-11D-1705-08	79291594	207814342	35385031	8	23423											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	362	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	1298770	209113112	34086261	9	23424											
SPP2	6694	broad.mit.edu	37	chr2	234969077	234969077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgcagggcgtgcatgctcGctgcagctggtcctcctcca	4	9	14	14	2	0	0	0	0	0	0	4	0	3	0	3	3	5	6	3	3	0	0			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:234969077G>A	ENST00000168148.3	+	4	486	c.398G>A	c.(397-399)cGc>cAc	p.R133H	SPP2_ENST00000373368.1_Missense_Mutation_p.R133H	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	133					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GTGCATGCTCGCTGCAGCTGG	0.577													A	234969077	G	A	234969077	3	1	362	1	0	0	0	0	1	0	0	0	15183	1087	38	1	412	1	SPP2	2	234969077	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08	25855965	234969077	8230296	10	23425											
HDAC4	9759	broad.mit.edu	37	chr2	239976491	239976491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacggacagcgtttgcattGggtctttgctgtaaaacctt	9	13	11	8	2	1	0	0	0	1	0	1	2	1	1	1	2	5	4	1	2	3	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr2:239976491G>A	ENST00000345617.3	-	25	3818	c.3027C>T	c.(3025-3027)ccC>ccT	p.P1009P	HDAC4_ENST00000543185.1_Silent_p.P593P	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1009	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CGTTTGCATTGGGTCTTTGCT	0.507													A	239976491	G	A	239976491	2	1	362	1	0	0	0	0	0	0	0	1	7064	1335	47	2		2	HDAC4	2	239976491	Silent	SNP	G	TCGA-DU-5872-01A-11D-1705-08	5007414	239976491	3222882	11	23426											
PROS1	5627	broad.mit.edu	37	chr3	93624931	93624931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaagcttttccatcttTgcagctcatatatccatctt	12	15	4	10	0	3	1	1	0	2	1	5	1	5	1	2	0	3	3	2	0	5	6			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:93624931T>C	ENST00000394236.3	-	5	719	c.403A>G	c.(403-405)Aaa>Gaa	p.K135E	PROS1_ENST00000407433.1_Missense_Mutation_p.K4E	NM_000313.3	NP_000304.2	P07225	PROS_HUMAN	protein S (alpha)	135	EGF-like 1.				leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|post-translational protein modification|proteolysis	endoplasmic reticulum membrane|extracellular region|Golgi lumen|Golgi membrane|platelet alpha granule lumen	calcium ion binding|endopeptidase inhibitor activity			endometrium(3)|kidney(5)|large_intestine(8)|lung(26)|ovary(1)|skin(2)|urinary_tract(1)	46					Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)	TTTCCATCTTTGCAGCTCATA	0.408													C	93624931	T	C	93624931	3	2	362	1	0	0	0	0	1	0	0	0	12644	1821	63	3	1671	3	PROS1	3	93624931	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08		93624931	104397499	12	23427											
PLCH1	23007	broad.mit.edu	37	chr3	155200741	155200741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggctggtatctttgtggAgcagagcactggaggaggat	8	11	16	6	0	1	1	0	0	1	1	1	5	1	5	0	6	2	4	0	6	1	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:155200741A>G	ENST00000460012.1	-	23	3341	c.2984T>C	c.(2983-2985)cTc>cCc	p.L995P	PLCH1_ENST00000414191.1_Missense_Mutation_p.L995P|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.L1033P|PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.L995P			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1033					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)			ATCTTTGTGGAGCAGAGCACT	0.453													G	155200741	A	G	155200741	3	3	362	1	0	0	0	0	1	0	0	0	12114	304	11	3	1987	3	PLCH1	3	155200741	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08	61575810	155200741	42821689	13	23428											
SPATA16	83893	broad.mit.edu	37	chr3	172631478	172631478	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatattccacacacgttcAttattgtttcttcttccttc	8	19	2	12	1	4	0	2	0	2	0	7	0	6	0	2	0	0	2	2	0	2	9			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr3:172631478A>G	ENST00000351008.3	-	10	1743	c.1560T>C	c.(1558-1560)aaT>aaC	p.N520N		NM_031955.5	NP_114161.3	Q9BXB7	SPT16_HUMAN	spermatogenesis associated 16	520					cell differentiation|multicellular organismal development|spermatogenesis	Golgi apparatus	binding			breast(2)|cervix(1)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	43	Ovarian(172;0.00319)|Breast(254;0.197)		LUSC - Lung squamous cell carcinoma(14;1.48e-14)|Lung(28;6.63e-14)			ACACACGTTCATTATTGTTTC	0.373													G	172631478	A	G	172631478	2	3	362	1	0	0	0	0	0	0	0	1	15097	214	8	3		3	SPATA16	3	172631478	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08	17430737	172631478	25390952	14	23429											
SLC12A7	10723	broad.mit.edu	37	chr5	1088447	1088447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacaccgttggtagcgatcGcactcatggaaatggcggtc	9	8	12	12	4	1	0	1	0	0	0	3	2	1	1	2	4	1	3	2	4	2	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr5:1088447G>A	ENST00000264930.5	-	5	561	c.518C>T	c.(517-519)gCg>gTg	p.A173V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	173					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)	GGTAGCGATCGCACTCATGGA	0.592													A	1088447	G	A	1088447	3	1	362	1	0	0	0	0	1	0	0	0	14482	1087	38	1	2813	1	SLC12A7	5	1088447	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		1088447	179826813	15	23430											
ZNF451	26036	broad.mit.edu	37	chr6	57012701	57012701	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttctccgaggggtaaatgGcaatgccggatttgtgaaga	11	10	14	6	2	1	2	0	1	1	1	2	4	1	3	2	4	1	3	2	4	4	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr6:57012701G>A	ENST00000370706.4	+	10	2062	c.1818G>A	c.(1816-1818)tgG>tgA	p.W606*	RP11-203B9.4_ENST00000589549.1_RNA|RP11-203B9.4_ENST00000592038.1_RNA|RP11-203B9.4_ENST00000591553.1_RNA|RP11-203B9.4_ENST00000592500.1_RNA|RP11-203B9.4_ENST00000586432.1_RNA|RP11-203B9.4_ENST00000587815.1_RNA|ZNF451_ENST00000357489.3_Nonsense_Mutation_p.W606*|RP11-203B9.4_ENST00000586668.1_RNA|RP11-203B9.4_ENST00000585792.1_RNA|ZNF451_ENST00000491832.2_Nonsense_Mutation_p.W606*|RP11-203B9.4_ENST00000416069.2_RNA|RP11-203B9.4_ENST00000586053.1_RNA|RP11-203B9.4_ENST00000588811.1_RNA	NM_001031623.2	NP_001026794.1	Q9Y4E5	ZN451_HUMAN	zinc finger protein 451	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32	Lung NSC(77;0.145)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGGGTAAATGGCAATGCCGGA	0.418													A	57012701	G	A	57012701	4	1	362	1	0	0	0	0	0	1	0	0	18023	1212	42	2	1856	2	ZNF451	6	57012701	Nonsense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		57012701	114102366	16	23431											
ZNRF2	223082	broad.mit.edu	37	chr7	30325442	30325442	+	Splice_Site	DEL	G	G	-																															tctcgccgcacatgtttggaGgtacggacccctctccgcgc																										TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:30325442delG	ENST00000323037.4	+	1	1520	c.469delG	c.(469-471)gga>ga	p.G157fs	ZNRF2_ENST00000459998.1_3'UTR	NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	157						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						CATGTTTGGAGGTACGGACCC	0.726													-	30325442	G	-	30325442	8	5	362	1	0	1	0	1	0	0	1	0	18311	1014	35	0	471	0	ZNRF2	7	30325442	Splice_Site	DEL	G	TCGA-DU-5872-01A-11D-1705-08		30325442	128813221	17	23432											
COL1A2	1278	broad.mit.edu	37	chr7	94057712	94057712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcccaacctgaaaacatcCcagccaagaactggtatagg	14	5	10	12	0	0	2	0	1	0	1	1	2	1	2	4	3	4	1	4	3	7	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:94057712C>T	ENST00000297268.6	+	50	4105	c.3634C>T	c.(3634-3636)Cca>Tca	p.P1212S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1212	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGAAAACATCCCAGCCAAGAA	0.488										HNSCC(75;0.22)			T	94057712	C	T	94057712	3	4	362	1	0	0	0	0	1	0	0	0	3709	623	22	2	3832	2	COL1A2	7	94057712	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	63732270	94057712	65080951	18	23433											
TRRAP	8295	broad.mit.edu	37	chr7	98545941	98545941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagaggttgtcatgaaaaCggagcgggcgatgctgatcg	10	8	16	7	4	1	3	1	2	0	1	2	5	1	4	0	3	3	3	0	3	3	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:98545941C>T	ENST00000359863.4	+	33	4834	c.4625C>T	c.(4624-4626)aCg>aTg	p.T1542M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T1523M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1524M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1542					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GTCATGAAAACGGAGCGGGCG	0.498													T	98545941	C	T	98545941	3	4	362	1	0	0	0	0	1	0	0	0	16702	536	19	1	4693	1	TRRAP	7	98545941	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	4488229	98545941	60592722	19	23434											
CRYGN	155051	broad.mit.edu	37	chr7	151135095	151135095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccattcctacaggcCgacaggagcccatgtggtca	10	7	9	15	1	2	0	2	0	0	0	3	2	3	1	4	3	2	0	4	3	1	2	rs148445096		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr7:151135095C>T	ENST00000337323.2	-	2	383	c.257G>A	c.(256-258)cGg>cAg	p.R86Q	RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR|CRYGN_ENST00000491928.1_Missense_Mutation_p.R86Q	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	86	Beta/gamma crystallin 'Greek key' 2.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCCTACAGGCCGACAGGAGCC	0.627													T	151135095	C	T	151135095	3	4	362	1	0	0	0	0	1	0	0	0	3949	652	23	1	303	1	CRYGN	7	151135095	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	52589154	151135095	8003568	20	23435											
RORB	6096	broad.mit.edu	37	chr9	77257427	77257427	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggaacagcggcagcagcaGagtggggaggcagaagccct	12	2	17	10	1	0	2	0	0	0	2	0	4	0	4	1	5	5	4	1	5	2	0			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:77257427G>C	ENST00000376896.3	+	4	945	c.333G>C	c.(331-333)caG>caC	p.Q111H	RORB_ENST00000396204.2_Missense_Mutation_p.Q122H	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ggcagcagcagAGTGGGGAGG	0.592													C	77257427	G	C	77257427	3	2	362	1	0	0	0	0	1	0	0	0	13620	933	33	4	347	4	RORB	9	77257427	Missense_Mutation	SNP	G	TCGA-DU-5872-01A-11D-1705-08		77257427	63956004	21	23436											
SETX	23064	broad.mit.edu	37	chr9	135205145	135205145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attataagatgcaggagagaTtttacatgcagaagtcagat	16	11	10	4	0	1	4	1	0	0	4	1	6	1	5	0	1	3	2	0	1	4	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr9:135205145T>C	ENST00000372169.2	-	10	2022	c.1840A>G	c.(1840-1842)Atc>Gtc	p.I614V	SETX_ENST00000393220.1_Missense_Mutation_p.I614V|SETX_ENST00000224140.5_Missense_Mutation_p.I614V			Q7Z333	SETX_HUMAN	senataxin	614					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGGAGAGATTTTACATGCA	0.353													C	135205145	T	C	135205145	3	2	362	1	0	0	0	0	1	0	0	0	14234	1493	52	3	6261	3	SETX	9	135205145	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	57947718	135205145	6008286	22	23437											
SLC22A11	55867	broad.mit.edu	37	chr11	64323648	64323648	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctggacaatggctctgcGgtttccacaaacatgacccc	10	9	9	13	1	1	1	0	1	1	0	2	2	2	2	3	3	3	3	3	3	2	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr11:64323648G>A	ENST00000301891.4	+	1	551	c.177G>A	c.(175-177)gcG>gcA	p.A59A	SLC22A11_ENST00000377585.3_Silent_p.A59A|SLC22A11_ENST00000490834.1_3'UTR|SLC22A11_ENST00000377581.3_Silent_p.A59A	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	59					urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Probenecid(DB01032)	ATGGCTCTGCGGTTTCCACAA	0.627											OREG0004031	type=REGULATORY REGION|Gene=SLC22A11|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64323648	G	A	64323648	2	1	362	1	0	0	0	0	0	0	0	1	14536	1103	39	1		1	SLC22A11	11	64323648	Silent	SNP	G	TCGA-DU-5872-01A-11D-1705-08		64323648	70682868	23	23438											
PRICKLE1	144165	broad.mit.edu	37	chr12	42858963	42858963	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtttgggaaggaagggAcatcccaacaaagaggcttt	12	8	12	9	0	0	1	0	0	0	1	1	4	1	4	2	4	1	2	2	4	4	2			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr12:42858963A>G	ENST00000455697.1	-	7	1158	c.873T>C	c.(871-873)tgT>tgC	p.C291C	PRICKLE1_ENST00000445766.2_Silent_p.C291C|PRICKLE1_ENST00000548696.1_Silent_p.C291C|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Silent_p.C291C|PRICKLE1_ENST00000552240.1_Silent_p.C291C	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	291	LIM zinc-binding 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding	p.C291C(1)		NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GAAGGAAGGGACATCCCAACA	0.522													G	42858963	A	G	42858963	2	3	362	1	0	0	0	0	0	0	0	1	12572	273	10	3		3	PRICKLE1	12	42858963	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08		42858963	90992932	24	23439											
TUBA3C	7278	broad.mit.edu	37	chr13	19751332	19751332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccagggggaagtggatgCgggggtacggcactaggttg	7	7	21	6	2	0	0	0	0	0	0	0	2	0	2	1	8	2	3	1	8	3	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr13:19751332C>T	ENST00000400113.3	-	4	895	c.791G>A	c.(790-792)cGc>cAc	p.R264H		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	264					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.R264H(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		GAAGTGGATGCGGGGGTACGG	0.612													T	19751332	C	T	19751332	3	4	362	1	0	0	0	0	1	0	0	0	16848	768	27	1	569	1	TUBA3C	13	19751332	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08		19751332	95418546	25	23440											
HERC2	8924	broad.mit.edu	37	chr15	28483803	28483803	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcctttatatcatacacCttcccgtcaatcacagtcca	12	12	3	14	1	3	0	3	0	0	0	6	0	6	0	4	0	1	0	4	0	5	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr15:28483803C>T	ENST00000261609.7	-	24	3801	c.3693G>A	c.(3691-3693)aaG>aaA	p.K1231K		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1231	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TATCATACACCTTCCCGTCAA	0.373													T	28483803	C	T	28483803	2	4	362	1	0	0	0	0	0	0	0	1	7113	680	24	2		2	HERC2	15	28483803	Silent	SNP	C	TCGA-DU-5872-01A-11D-1705-08		28483803	74047589	26	23441											
BAIAP3	8938	broad.mit.edu	37	chr16	1391143	1391143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccacaggcccccacgtatgCcctgaaagtctctgtcatgc	8	9	8	16	1	2	1	1	1	1	0	4	1	3	1	4	1	2	1	4	1	2	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr16:1391143C>T	ENST00000324385.5	+	7	745	c.587C>T	c.(586-588)gCc>gTc	p.A196V	BAIAP3_ENST00000568887.1_Missense_Mutation_p.A133V|BAIAP3_ENST00000562208.1_Missense_Mutation_p.A138V|BAIAP3_ENST00000397488.2_Missense_Mutation_p.A178V|BAIAP3_ENST00000426824.3_Missense_Mutation_p.A161V|BAIAP3_ENST00000421665.2_Missense_Mutation_p.A161V|BAIAP3_ENST00000397489.1_Missense_Mutation_p.A178V	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	196	C2 1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CCCACGTATGCCCTGAAAGTC	0.672													T	1391143	C	T	1391143	3	4	362	1	0	0	0	0	1	0	0	0	1309	739	26	2	613	2	BAIAP3	16	1391143	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08		1391143	88963610	27	23442											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	362	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08		7578394	73616816	28	23443											
MYH1	4619	broad.mit.edu	37	chr17	10419569	10419569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgtacagcacagcaggctCgtgtagatgagtcatcatgg	10	10	13	8	1	2	2	2	1	0	1	3	2	2	2	0	2	3	6	0	2	2	3			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:10419569C>T	ENST00000226207.5	-	4	389	c.295G>A	c.(295-297)Gag>Aag	p.E99K	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	99	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						ACAGCAGGCTCGTGTAGATGA	0.473													T	10419569	C	T	10419569	3	4	362	1	0	0	0	0	1	0	0	0	10105	893	31	1	5672	1	MYH1	17	10419569	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	2841175	10419569	70775641	29	23444											
PSMD12	5718	broad.mit.edu	37	chr17	65341917	65341917	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattcggtgaaccaaatcTgactgttcattgtcaaaagg	12	13	8	8	1	3	2	2	2	1	0	4	2	3	2	1	2	1	1	1	2	5	4			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr17:65341917T>A	ENST00000356126.3	-	8	959	c.852A>T	c.(850-852)tcA>tcT	p.S284S	PSMD12_ENST00000357146.4_Silent_p.S264S	NM_002816.3	NP_002807.1	O00232	PSD12_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 12	284	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	protein binding			breast(1)|large_intestine(4)|lung(6)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;2.38e-11)|all_epithelial(3;8.27e-13)					GAACCAAATCTGACTGTTCAT	0.358													A	65341917	T	A	65341917	2	1	362	1	0	0	0	0	0	0	0	1	12780	1567	55	5		5	PSMD12	17	65341917	Silent	SNP	T	TCGA-DU-5872-01A-11D-1705-08	54922348	65341917	15853293	30	23445											
LAMA3	3909	broad.mit.edu	37	chr18	21425086	21425086	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaaacagcttttacctTgagtgagtatcactttgtgg	12	13	10	6	0	1	2	1	2	0	0	1	3	1	3	1	2	3	2	1	2	5	5			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chr18:21425086T>G	ENST00000313654.9	+	30	3958	c.3717T>G	c.(3715-3717)ctT>ctG	p.L1239L	LAMA3_ENST00000399516.3_Silent_p.L1239L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1239	Domain IV 1 (domain IV B).				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCTTTTACCTTGAGTGAGTAT	0.493													G	21425086	T	G	21425086	2	3	362	1	0	0	0	0	0	0	0	1	8666	1799	63	5		5	LAMA3	18	21425086	Silent	SNP	T	TCGA-DU-5872-01A-11D-1705-08		21425086	56652162	31	23446											
AKAP4	8852	broad.mit.edu	37	chrX	49957597	49957597	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctttggcactttggccAcctccacacttttcatattg	7	15	7	12	0	1	0	1	0	0	0	2	0	2	0	3	2	1	2	3	2	1	6			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:49957597A>G	ENST00000376056.2	-	5	1890	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	AKAP4_ENST00000376064.3_Silent_p.G580G|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Silent_p.G206G|AKAP4_ENST00000358526.2_Silent_p.G589G			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	589					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACTTTGGCCACCTCCACACT	0.488													G	49957597	A	G	49957597	2	3	362	1	0	0	0	0	0	0	0	1	453	146	6	3		3	AKAP4	23	49957597	Silent	SNP	A	TCGA-DU-5872-01A-11D-1705-08		49957597	105312963	32	23447											
ATRX	546	broad.mit.edu	37	chrX	76813106	76813106	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatcataaatcttatctTccatggttccctttgtaaaa	11	15	5	10	1	3	0	1	0	2	0	5	1	5	0	3	1	0	2	3	1	5	6			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:76813106T>G	ENST00000373344.5	-	30	6729	c.6515A>C	c.(6514-6516)gAa>gCa	p.E2172A	ATRX_ENST00000395603.3_Missense_Mutation_p.E2134A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2172	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)	AATCTTATCTTCCATGGTTCC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76813106	T	G	76813106	3	3	362	1	0	0	0	0	1	0	0	0	1213	1783	62	5	987	5	ATRX	23	76813106	Missense_Mutation	SNP	T	TCGA-DU-5872-01A-11D-1705-08	26855509	76813106	78457454	33	23448											
CCDC160	347475	broad.mit.edu	37	chrX	133379653	133379653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattagaaatggcaaagatcCgcggagagctcagtgtcatc	14	8	11	8	2	2	3	2	0	0	3	4	4	3	3	1	2	1	2	1	2	4	1			TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:133379653C>T	ENST00000517294.1	+	3	1206	c.823C>T	c.(823-825)Cgc>Tgc	p.R275C	CCDC160_ENST00000370809.4_Missense_Mutation_p.R275C			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	275										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GGCAAAGATCCGCGGAGAGCT	0.383													T	133379653	C	T	133379653	3	4	362	1	0	0	0	0	1	0	0	0	2819	652	23	1	825	1	CCDC160	23	133379653	Missense_Mutation	SNP	C	TCGA-DU-5872-01A-11D-1705-08	56566547	133379653	21890907	34	23449											
PLXNA3	55558	broad.mit.edu	37	chrX	153688767	153688767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgctacccgccccccAgcatgcgcgtgtgtgcccac	4	7	10	20	4	0	0	0	0	0	0	1	0	0	0	5	0	5	3	5	0	1	1	rs142949704		TCGA-DU-5872-01A-11D-1705-08	TCGA-DU-5872-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d597128b-776d-4925-908d-e5e1e4b18f8b	ded34f93-720b-42b6-8a5c-680d6beab0e7	g.chrX:153688767A>G	ENST00000369682.3	+	2	419	c.244A>G	c.(244-246)Agc>Ggc	p.S82G		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	82	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCGCCCCCCAGCATGCGCGT	0.672													G	153688767	A	G	153688767	3	3	362	1	0	0	0	0	1	0	0	0	12198	188	7	3	246	3	PLXNA3	23	153688767	Missense_Mutation	SNP	A	TCGA-DU-5872-01A-11D-1705-08	20309114	153688767	1581793	35	23450											
ZMYM6	9204	broad.mit.edu	37	chr1	35496240	35496240	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatccaaaggttctttcaTtctaattttttacctcaaag	12	16	3	10	0	4	0	2	0	2	0	5	0	5	0	3	1	1	1	3	1	4	7			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:35496240T>C	ENST00000357182.4	-	2	228	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	ZMYM6_ENST00000373333.1_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000373340.2_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000487874.1_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000317538.5_Start_Codon_SNP_p.M1V|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	1					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GGTTCTTTCATTCTAATTTTT	0.388													C	35496240	T	C	35496240	1	2	363	1	0	0	0	0	0	0	0	0	17805	1493	52	3		3	ZMYM6	1	35496240	Translation_Start_Site	SNP	T	TCGA-DU-5874-01A-11D-1705-08		35496240	213754381	1	23451											
SH2D2A	9047	broad.mit.edu	37	chr1	156785835	156785835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcagctcctgcgggtcAtgtctgtgatctggaaggtg	5	12	15	9	1	4	1	1	1	3	0	5	2	5	2	1	4	2	2	1	4	1	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:156785835A>G	ENST00000392306.2	-	2	225	c.86T>C	c.(85-87)aTg>aCg	p.M29T	SH2D2A_ENST00000368198.3_Missense_Mutation_p.M11T|SH2D2A_ENST00000368199.3_Missense_Mutation_p.M29T|NTRK1_ENST00000392302.2_Intron|SH2D2A_ENST00000495306.1_5'UTR	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	29					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CCTGCGGGTCATGTCTGTGAT	0.612													G	156785835	A	G	156785835	3	3	363	1	0	0	0	0	1	0	0	0	14325	217	8	3	1141	3	SH2D2A	1	156785835	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08	121289595	156785835	92464786	2	23452											
C1orf106	55765	broad.mit.edu	37	chr1	200880752	200880752	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtggctctgacgtctcCagcatctcccaccccacttc	7	9	7	18	1	3	1	0	1	3	0	6	2	3	1	4	1	1	2	4	1	0	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:200880752C>T	ENST00000367342.4	+	9	1586	c.1386C>T	c.(1384-1386)tcC>tcT	p.S462S	C1orf106_ENST00000413687.2_Silent_p.S377S	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	462										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CTGACGTCTCCAGCATCTCCC	0.667													T	200880752	C	T	200880752	2	4	363	1	0	0	0	0	0	0	0	1	2000	581	21	2		2	C1orf106	1	200880752	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08	44094917	200880752	48369869	3	23453											
SIPA1L2	57568	broad.mit.edu	37	chr1	232626742	232626742	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgagaggtagtcctcGtgcggtaccatgcctagcag	7	12	12	10	2	1	1	0	1	1	1	3	2	2	1	3	2	4	3	3	2	3	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:232626742G>A	ENST00000366630.1	-	4	2042	c.1684C>T	c.(1684-1686)Cga>Tga	p.R562*	SIPA1L2_ENST00000486472.1_5'UTR|SIPA1L2_ENST00000262861.4_Nonsense_Mutation_p.R562*			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	562					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				GGTAGTCCTCGTGCGGTACCA	0.458													A	232626742	G	A	232626742	4	1	363	1	0	0	0	0	0	1	0	0	14424	1153	40	1	3560	1	SIPA1L2	1	232626742	Nonsense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	31745990	232626742	16623879	4	23454											
OR1C1	26188	broad.mit.edu	37	chr1	247921335	247921335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaaggggtggcaaatcGccacatatctatcatacgcc	13	9	9	10	2	2	0	1	0	1	0	3	0	2	0	2	3	1	2	2	3	6	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr1:247921335G>A	ENST00000408896.2	-	1	647	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A125V(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GTGGCAAATCGCCACATATCT	0.502													A	247921335	G	A	247921335	3	1	363	1	0	0	0	0	1	0	0	0	11028	1087	38	1	572	1	OR1C1	1	247921335	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	15294593	247921335	1329286	5	23455											
CYP26B1	56603	broad.mit.edu	37	chr2	72360210	72360210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaaatgggcgtgaacaggCgcatgacctccttgatgacg	10	7	14	10	4	0	4	0	4	0	0	1	5	1	5	2	3	1	1	2	3	2	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr2:72360210C>T	ENST00000001146.2	-	5	1291	c.1088G>A	c.(1087-1089)cGc>cAc	p.R363H	CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288H|CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172H	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	363					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CGTGAACAGGCGCATGACCTC	0.677													T	72360210	C	T	72360210	3	4	363	1	0	0	0	0	1	0	0	0	4189	768	27	1	458	1	CYP26B1	2	72360210	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		72360210	170839163	6	23456											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	363	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	136752902	209113112	34086261	7	23457											
SLC6A6	6533	broad.mit.edu	37	chr3	14508027	14508027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcgcccttgcaggtcGtctacttcacagccactttt	5	13	6	17	2	3	0	1	0	2	0	5	0	3	0	3	1	3	1	3	1	1	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:14508027G>A	ENST00000454876.2	+	7	1065	c.736G>A	c.(736-738)Gtc>Atc	p.V246I	SLC6A6_ENST00000360861.3_Missense_Mutation_p.V246I			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	246					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CTTGCAGGTCGTCTACTTCAC	0.602													A	14508027	G	A	14508027	3	1	363	1	0	0	0	0	1	0	0	0	14782	1145	40	1	758	1	SLC6A6	3	14508027	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		14508027	183514403	8	23458											
ZNF197	10168	broad.mit.edu	37	chr3	44683423	44683423	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaccgagaatgaggaggtGacatcaaagccaagtagttc	15	7	12	7	1	1	4	1	3	0	1	2	6	1	5	2	2	1	2	2	2	4	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:44683423G>A	ENST00000396058.1	+	5	968	c.801G>A	c.(799-801)gtG>gtA	p.V267V	ZNF197_ENST00000383745.2_Intron|ZNF197_ENST00000383744.4_Intron|RP11-944L7.4_ENST00000457331.1_RNA|ZNF197_ENST00000344387.4_Silent_p.V267V			O14709	ZN197_HUMAN	zinc finger protein 197	267	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)	25				KIRC - Kidney renal clear cell carcinoma(197;0.0478)|Kidney(197;0.0598)		ATGAGGAGGTGACATCAAAGC	0.413													A	44683423	G	A	44683423	2	1	363	1	0	0	0	0	0	0	0	1	17860	1277	45	2		2	ZNF197	3	44683423	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	30175396	44683423	153339007	9	23459											
KIAA1257	57501	broad.mit.edu	37	chr3	128706646	128706646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacgacacccaggctttGtcaccttcgtgccacggctt	6	10	8	17	3	1	0	1	0	0	0	3	1	2	0	4	2	1	2	4	2	0	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr3:128706646G>T	ENST00000265068.5	-	4	647	c.480C>A	c.(478-480)gaC>gaA	p.D160E	KIAA1257_ENST00000511438.1_Missense_Mutation_p.D160E|KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D48E	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	160										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						CCCAGGCTTTGTCACCTTCGT	0.453													T	128706646	G	T	128706646	3	4	363	1	0	0	0	0	1	0	0	0	8276	1368	48	4	769	4	KIAA1257	3	128706646	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	84023223	128706646	69315784	10	23460											
ATP10D	57205	broad.mit.edu	37	chr4	47556756	47556756	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcaggaaacagacgtggTaccagacaccaggcttttag	12	9	10	10	1	2	2	1	0	1	2	2	3	2	3	2	3	2	2	2	3	3	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr4:47556756T>C	ENST00000273859.3	+	11	1918	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	550					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ACAGACGTGGTACCAGACACC	0.363													C	47556756	T	C	47556756	3	2	363	1	0	0	0	0	1	0	0	0	1123	1638	57	3	1687	3	ATP10D	4	47556756	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08		47556756	143597520	11	23461											
SLC6A19	340024	broad.mit.edu	37	chr5	1216915	1216915	+	Frame_Shift_Del	DEL	C	C	-																															gacccgcaggaacatcctgaCcctcatcaacgggttcgacc																										TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:1216915delC	ENST00000304460.10	+	8	1084	c.1028delC	c.(1027-1029)accfs	p.T343fs		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	343					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.T343I(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			AACATCCTGACCCTCATCAAC	0.657													-	1216915	C	-	1216915	7	5	363	1	0	1	0	1	0	0	0	0	14776	507	18	0	1058	0	SLC6A19	5	1216915	Frame_Shift_Del	DEL	C	TCGA-DU-5874-01A-11D-1705-08		1216915	179698345	12	23462											
CHD1	1105	broad.mit.edu	37	chr5	98207864	98207864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttctttgccccagtctAtatcaaaatgagctgccttt	9	15	5	12	0	4	1	1	1	3	0	4	1	4	1	3	0	3	1	3	0	4	5	rs150956514	by1000genomes	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:98207864A>G	ENST00000284049.3	-	27	3901	c.3752T>C	c.(3751-3753)aTa>aCa	p.I1251T		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1251					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	GCCCCAGTCTATATCAAAATG	0.348													G	98207864	A	G	98207864	3	3	363	1	0	0	0	0	1	0	0	0	3353	449	16	3	1416	3	CHD1	5	98207864	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08	96990949	98207864	82707396	13	23463											
PITX1	5307	broad.mit.edu	37	chr5	134364859	134364859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggcgccaggctcttggcGgcccagttgttgtaggagta	5	10	16	10	2	1	0	0	0	1	0	1	1	1	1	2	5	0	6	2	5	2	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr5:134364859G>A	ENST00000265340.7	-	3	971	c.555C>T	c.(553-555)gcC>gcT	p.A185A	PITX1_ENST00000506438.1_Silent_p.A185A	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	185	Interacts with PIT-1 (By similarity).					nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GGCTCTTGGCGGCCCAGTTGT	0.632													A	134364859	G	A	134364859	2	1	363	1	0	0	0	0	0	0	0	1	12031	1103	39	1		1	PITX1	5	134364859	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	36156995	134364859	46550401	14	23464											
CUL7	9820	broad.mit.edu	37	chr6	43010826	43010826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctgcttctccaccaCggcccgccaacagcgcgtca	7	5	8	21	4	2	0	1	0	1	0	3	0	2	0	6	1	3	1	6	1	1	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:43010826C>T	ENST00000535468.1	-	18	3786	c.3700G>A	c.(3700-3702)Gtg>Atg	p.V1234M	CUL7_ENST00000265348.3_Missense_Mutation_p.V1150M	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1150					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCTCCACCACGGCCCGCCAA	0.602													T	43010826	C	T	43010826	3	4	363	1	0	0	0	0	1	0	0	0	4093	536	19	1	1684	1	CUL7	6	43010826	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		43010826	128104241	15	23465											
SYNE1	23345	broad.mit.edu	37	chr6	152469200	152469200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgataagccaacagctcccCggaggtagaaatctttgtca	12	9	9	11	1	2	2	1	1	1	1	3	3	3	3	3	2	3	2	3	2	4	3	rs148008634	byFrequency	TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr6:152469200C>T	ENST00000367255.5	-	137	25557	c.24956G>A	c.(24955-24957)cGg>cAg	p.R8319Q	SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000354674.4_Missense_Mutation_p.R474Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7931Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8319Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.R8248Q|SYNE1_ENST00000539504.1_Missense_Mutation_p.R474Q|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2843Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8319					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)		AACAGCTCCCCGGAGGTAGAA	0.493										HNSCC(10;0.0054)			T	152469200	C	T	152469200	3	4	363	1	0	0	0	0	1	0	0	0	15542	652	23	1	1550	1	SYNE1	6	152469200	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	109458374	152469200	18645867	16	23466											
WIPI2	26100	broad.mit.edu	37	chr7	5256279	5256279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgatcagggagacgcctcCaaaccctgcaggtgagctaa	12	6	11	12	2	1	2	1	1	0	1	2	4	2	2	3	2	4	2	3	2	3	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:5256279C>T	ENST00000288828.4	+	5	699	c.467C>T	c.(466-468)cCa>cTa	p.P156L	WIPI2_ENST00000404704.3_Missense_Mutation_p.P156L|WIPI2_ENST00000382384.2_Missense_Mutation_p.P138L|WIPI2_ENST00000401525.3_Missense_Mutation_p.P138L|WIPI2_ENST00000484262.1_Missense_Mutation_p.P97L	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	156					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GAGACGCCTCCAAACCCTGCA	0.463													T	5256279	C	T	5256279	3	4	363	1	0	0	0	0	1	0	0	0	17473	594	21	2	519	2	WIPI2	7	5256279	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		5256279	153882384	17	23467											
NPVF	64111	broad.mit.edu	37	chr7	25266332	25266332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tggcacatggtgaatgcatgGatccttgacacaaatcactc	12	10	9	10	0	1	2	1	2	0	0	3	3	2	3	1	3	1	2	1	3	2	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:25266332G>C	ENST00000222674.2	-	2	498	c.452C>G	c.(451-453)tCc>tGc	p.S151C		NM_022150.3	NP_071433	Q9HCQ7	RFRP_HUMAN	neuropeptide VF precursor	151					neuropeptide signaling pathway	extracellular region|membrane	G-protein coupled receptor activity			cervix(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|urinary_tract(1)	15						TGAATGCATGGATCCTTGACA	0.468													C	25266332	G	C	25266332	3	2	363	1	0	0	0	0	1	0	0	0	10681	1174	41	4	146	4	NPVF	7	25266332	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	20010053	25266332	133872331	18	23468											
HEPACAM2	253012	broad.mit.edu	37	chr7	92825189	92825189	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacaaattcatatattccGaagtcatccagagcatcttc	14	11	5	11	1	3	1	2	0	1	1	6	2	5	1	2	0	2	2	2	0	5	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr7:92825189G>T	ENST00000440868.1	-	6	1216	c.1166C>A	c.(1165-1167)tCg>tAg	p.S389*	HEPACAM2_ENST00000341723.4_Missense_Mutation_p.F397L|HEPACAM2_ENST00000492616.1_5'UTR|HEPACAM2_ENST00000394468.2_Missense_Mutation_p.F409L|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.F432L			A8MVW5	HECA2_HUMAN	HEPACAM family member 2	0						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						CATATATTCCGAAGTCATCCA	0.383													T	92825189	G	T	92825189	4	4	363	1	0	0	0	0	0	1	0	0	7108	1049	37	4	173	4	HEPACAM2	7	92825189	Nonsense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	67558857	92825189	66313474	19	23469											
OSR2	116039	broad.mit.edu	37	chr8	99962883	99962883	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccttatattgattttcaGatacatccattccaaagaaa	17	13	3	8	0	1	3	1	1	0	2	3	3	3	3	3	0	2	0	3	0	6	7			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr8:99962883G>A	ENST00000297565.4	+	3	1152		c.e3-1		OSR2_ENST00000522510.1_Splice_Site|OSR2_ENST00000435298.2_Splice_Site|OSR2_ENST00000457907.2_Splice_Site|OSR2_ENST00000523368.1_Splice_Site	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2						bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding	p.?(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			TTGATTTTCAGATACATCCAT	0.358													A	99962883	G	A	99962883	5	1	363	1	0	0	0	0	0	0	1	0	11370	956	33	2	662	2	OSR2	8	99962883	Splice_Site	SNP	G	TCGA-DU-5874-01A-11D-1705-08		99962883	46401139	20	23470											
KIAA0020	9933	broad.mit.edu	37	chr9	2829886	2829886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgatgcttccgcatgcCgcagcatcttcctcacgtgg	5	11	11	14	3	2	1	1	1	1	0	4	1	4	1	3	2	3	5	3	2	0	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:2829886C>T	ENST00000397885.2	-	8	946	c.740G>A	c.(739-741)cGg>cAg	p.R247Q	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	247	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		TTCCGCATGCCGCAGCATCTT	0.433													T	2829886	C	T	2829886	3	4	363	1	0	0	0	0	1	0	0	0	8210	652	23	1	1250	1	KIAA0020	9	2829886	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		2829886	138383545	21	23471											
GLIS3	169792	broad.mit.edu	37	chr9	4286155	4286155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcggcttcccattggtgaGcatttgtctcctggggctta	4	14	12	11	2	1	1	0	1	1	0	4	1	2	1	2	4	1	3	2	4	1	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:4286155G>A	ENST00000381971.3	-	2	864	c.271C>T	c.(271-273)Ctc>Ttc	p.L91F		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	325	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CCATTGGTGAGCATTTGTCTC	0.562													A	4286155	G	A	4286155	3	1	363	1	0	0	0	0	1	0	0	0	6503	971	34	2	2561	2	GLIS3	9	4286155	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	1456269	4286155	136927276	22	23472											
PTGES2	80142	broad.mit.edu	37	chr9	130885212	130885212	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggatgtgcacacacacttgCctgctcttgagtcgcttgct	6	12	10	13	2	1	1	0	1	1	0	2	2	1	2	1	1	4	4	1	1	0	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr9:130885212C>T	ENST00000338961.6	-	5	1632		c.e5+1		PTGES2_ENST00000277462.5_Splice_Site	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2						cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CACACACTTGCCTGCTCTTGA	0.642													T	130885212	C	T	130885212	5	4	363	1	0	0	0	0	0	0	1	0	12833	753	26	2	257	2	PTGES2	9	130885212	Splice_Site	SNP	C	TCGA-DU-5874-01A-11D-1705-08	126599057	130885212	10328219	23	23473											
AIFM2	84883	broad.mit.edu	37	chr10	71880314	71880314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccatctccactccagcCgagcctcctcccaccaccac	7	6	5	23	1	1	0	0	0	1	0	5	1	4	0	9	0	3	1	9	0	0	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:71880314C>T	ENST00000307864.1	-	5	669	c.456G>A	c.(454-456)tcG>tcA	p.S152S	AIFM2_ENST00000373248.1_Silent_p.S152S	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	152					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						CCACTCCAGCCGAGCCTCCTC	0.522													T	71880314	C	T	71880314	2	4	363	1	0	0	0	0	0	0	0	1	427	639	23	1		1	AIFM2	10	71880314	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		71880314	63654433	24	23474											
GPR123	84435	broad.mit.edu	37	chr10	134898495	134898495	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcaatgtaaacaggaacgTatcctccgcctctgcatctc	11	11	6	13	2	3	0	1	0	2	0	6	1	5	1	3	1	3	3	3	1	6	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr10:134898495T>C	ENST00000607359.1	+	8	1557	c.1557T>C	c.(1555-1557)cgT>cgC	p.R519R				Q86SQ6	GP123_HUMAN	G protein-coupled receptor 123	0						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(3)	14		all_cancers(35;1.8e-10)|all_epithelial(44;8.95e-09)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Colorectal(31;0.0585)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;9.16e-06)|Epithelial(32;1.21e-05)|all cancers(32;1.63e-05)		AACAGGAACGTATCCTCCGCC	0.532													C	134898495	T	C	134898495	2	2	363	1	0	0	0	0	0	0	0	1	6691	1653	57	3		3	GPR123	10	134898495	Silent	SNP	T	TCGA-DU-5874-01A-11D-1705-08	63018181	134898495	636252	25	23475											
TTC17	55761	broad.mit.edu	37	chr11	43465682	43465683	+	In_Frame_Ins	INS	-	-	ACA																															gggaaaaaagtagaaacaggINStcagatagaaaatggacatc																										TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr11:43465682_43465683insACA	ENST00000039989.4	+	18	2602_2603	c.2588_2589insACA	c.(2587-2592)ggtcag>ggACAtcag	p.863_864GQ>GHQ	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_In_Frame_Ins_p.920_921GQ>GHQ	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	863							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTAGAAACAGGTCAGATAGAAA	0.421													ACA	43465683	-	ACA	43465682	7	5	363	1	0	1	1	0	0	0	0	0	16786	1261	44	0	2658	0	TTC17	11	43465682	In_Frame_Ins	INS	-	TCGA-DU-5874-01A-11D-1705-08		43465682	91540834	26	23476											
NTF3	4908	broad.mit.edu	37	chr12	5603654	5603654	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattgcaatggacaccgaaCtgctgcgacaacagagacgc	13	6	11	11	3	0	2	0	1	0	1	0	6	0	3	1	1	5	2	1	1	3	1			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:5603654C>T	ENST00000423158.3	+	2	525	c.313C>T	c.(313-315)Ctg>Ttg	p.L105L	NTF3_ENST00000331010.6_Silent_p.L92L|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	92					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGACACCGAACTGCTGCGACA	0.632													T	5603654	C	T	5603654	2	4	363	1	0	0	0	0	0	0	0	1	10772	564	20	2		2	NTF3	12	5603654	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		5603654	128248241	27	23477											
PA2G4	5036	broad.mit.edu	37	chr12	56504240	56504240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatatgctgtggatgttctCgtcagctcaggagagggcaa	9	11	14	7	1	3	1	2	0	1	1	4	3	3	2	0	3	2	5	0	3	3	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr12:56504240C>T	ENST00000303305.6	+	8	1106	c.687C>T	c.(685-687)ctC>ctT	p.L229L	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.L229L	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	229					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TGGATGTTCTCGTCAGCTCAG	0.403													T	56504240	C	T	56504240	2	4	363	1	0	0	0	0	0	0	0	1	11437	871	31	1		1	PA2G4	12	56504240	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08	50900586	56504240	77347655	28	23478											
FGF14	2259	broad.mit.edu	37	chr13	103053948	103053948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatccagcagcttagacacCctgagaaagaagagatcctt	15	7	8	11	0	0	4	0	1	0	4	2	6	2	4	3	0	2	2	3	0	4	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr13:103053948C>T	ENST00000376131.4	-	1	176	c.81G>A	c.(79-81)agG>agA	p.R27R	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTTAGACACCCTGAGAAAGA	0.413													T	103053948	C	T	103053948	2	4	363	1	0	0	0	0	0	0	0	1	5892	622	22	2		2	FGF14	13	103053948	Silent	SNP	C	TCGA-DU-5874-01A-11D-1705-08		103053948	12115930	29	23479											
OR11G2	390439	broad.mit.edu	37	chr14	20666311	20666311	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttcagcagctgggagaAgaaaggctttctccacctgt	9	10	10	12	0	2	2	1	0	1	2	4	3	3	2	3	2	2	3	3	2	2	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:20666311A>T	ENST00000357366.3	+	1	817	c.817A>T	c.(817-819)Aga>Tga	p.R273*		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		AGCTGGGAGAAGAAAGGCTTT	0.517													T	20666311	A	T	20666311	4	4	363	1	0	0	0	0	0	1	0	0	11001	64	3	5	819	5	OR11G2	14	20666311	Nonsense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08		20666311	86683229	30	23480											
MYH6	4624	broad.mit.edu	37	chr14	23855703	23855703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcgagtccaccacccGctggtggttgcgcttggcct	4	9	13	15	3	0	0	0	0	0	0	1	1	1	0	4	3	3	4	4	3	0	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23855703G>A	ENST00000405093.3	-	33	4850	c.4780C>T	c.(4780-4782)Cgg>Tgg	p.R1594W	MYH6_ENST00000356287.3_Missense_Mutation_p.R1594W	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1594					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	p.R1594R(1)		breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCCACCACCCGCTGGTGGTTG	0.592													A	23855703	G	A	23855703	3	1	363	1	0	0	0	0	1	0	0	0	10114	1086	38	1	1067	1	MYH6	14	23855703	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	3189392	23855703	83493837	31	23481											
MYH7	4625	broad.mit.edu	37	chr14	23887505	23887505	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctccgagttggccttggaAaggacgcgctgcagctcggc	7	7	14	13	4	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	1	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													C	23887505	A	C	23887505	2	2	363	1	0	0	0	0	0	0	0	1	10115	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-DU-5874-01A-11D-1705-08	31802	23887505	83462035	32	23482											
SEC23A	10484	broad.mit.edu	37	chr14	39502455	39502455	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagcacttcaagcagcactGgacacagcaagtttcttcaa	13	10	7	11	0	3	0	2	0	1	0	3	1	3	1	0	1	4	5	0	1	4	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:39502455G>A	ENST00000537403.1	-	16	2882	c.1680C>T	c.(1678-1680)tcC>tcT	p.S560S	SEC23A_ENST00000307712.6_Silent_p.S762S|SEC23A_ENST00000536508.1_Silent_p.S660S|SEC23A_ENST00000545328.2_Silent_p.S733S			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	762					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		AAGCAGCACTGGACACAGCAA	0.328													A	39502455	G	A	39502455	2	1	363	1	0	0	0	0	0	0	0	1	14084	1335	47	2		2	SEC23A	14	39502455	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08	15614950	39502455	67847085	33	23483											
PTPN21	11099	broad.mit.edu	37	chr14	88938593	88938593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcgttcctctcaccttaaTatgtgatgcgttgatgtaac	9	14	9	9	2	1	2	1	2	1	0	3	2	2	2	2	1	2	3	2	1	3	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:88938593T>C	ENST00000556564.1	-	15	3150	c.2866A>G	c.(2866-2868)Att>Gtt	p.I956V	PTPN21_ENST00000328736.3_Missense_Mutation_p.I956V	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	956	Tyrosine-protein phosphatase.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCACCTTAATATGTGATGCG	0.373													C	88938593	T	C	88938593	3	2	363	1	0	0	0	0	1	0	0	0	12874	1406	49	3	678	3	PTPN21	14	88938593	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08	49436138	88938593	18410947	34	23484											
PPP1R13B	23368	broad.mit.edu	37	chr14	104220415	104220415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaggcacgtacacagattgCcgttcatgattttgctgtag	9	12	11	9	2	1	2	1	1	0	1	1	2	1	2	1	1	3	6	1	1	2	6			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr14:104220415C>T	ENST00000202556.9	-	6	905	c.623G>A	c.(622-624)gGc>gAc	p.G208D		NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	208	Gln-rich.				apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				ACACAGATTGCCGTTCATGAT	0.463													T	104220415	C	T	104220415	3	4	363	1	0	0	0	0	1	0	0	0	12439	739	26	2	2697	2	PPP1R13B	14	104220415	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	15281822	104220415	3129125	35	23485											
MYO9A	4649	broad.mit.edu	37	chr15	72122614	72122614	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactacaacaggagacgaTggacctggatagtttcctcg	12	8	11	10	3	0	1	0	0	0	1	2	6	1	3	2	3	3	1	2	3	4	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:72122614T>C	ENST00000356056.5	-	40	7348	c.6876A>G	c.(6874-6876)ccA>ccG	p.P2292P	MYO9A_ENST00000444904.1_Silent_p.P2273P|MYO9A_ENST00000564571.1_Silent_p.P2292P|MYO9A_ENST00000424560.1_Silent_p.P2363P	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	2292	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGGAGACGATGGACCTGGAT	0.468													C	72122614	T	C	72122614	2	2	363	1	0	0	0	0	0	0	0	1	10160	1451	51	3		3	MYO9A	15	72122614	Silent	SNP	T	TCGA-DU-5874-01A-11D-1705-08		72122614	30408778	36	23486											
LRRK1	79705	broad.mit.edu	37	chr15	101555560	101555560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggactgaaaacgaagcgtaTtgcctttttcaccaccagag	12	10	9	10	2	1	2	1	1	0	1	1	4	1	3	3	1	3	1	3	1	4	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr15:101555560T>G	ENST00000284395.5	+	13	1953	c.1553T>G	c.(1552-1554)aTt>aGt	p.I518S	LRRK1_ENST00000388948.3_Missense_Mutation_p.I521S			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	521					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGAAGCGTATTGCCTTTTTC	0.517											OREG0023522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	101555560	T	G	101555560	3	3	363	1	0	0	0	0	1	0	0	0	9102	1493	52	5	1604	5	LRRK1	15	101555560	Missense_Mutation	SNP	T	TCGA-DU-5874-01A-11D-1705-08	29432946	101555560	975832	37	23487											
PKD1	5310	broad.mit.edu	37	chr16	2161835	2161835	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgctgcgtcaggttctcGaaggcattagatgccagcac	9	9	11	12	2	2	1	1	0	1	1	3	2	2	1	2	2	4	4	2	2	2	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:2161835G>A	ENST00000262304.4	-	15	3541	c.3333C>T	c.(3331-3333)ttC>ttT	p.F1111F	PKD1_ENST00000423118.1_Silent_p.F1111F	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1111	PKD 5.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCAGGTTCTCGAAGGCATTAG	0.706													A	2161835	G	A	2161835	2	1	363	1	0	0	0	0	0	0	0	1	12040	1049	37	1		1	PKD1	16	2161835	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		2161835	88192918	38	23488											
FOXF1	2294	broad.mit.edu	37	chr16	86546529	86546529	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgtcgcctcgccttgcAggcatcccgcggtatcactc	4	10	9	18	4	1	0	1	0	0	0	6	0	3	0	4	2	1	3	4	2	1	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr16:86546529A>G	ENST00000262426.4	+	2	1022		c.e2-1			NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1						branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						CTCGCCTTGCAGGCATCCCGC	0.627													G	86546529	A	G	86546529	5	3	363	1	0	0	0	0	0	0	1	0	6056	202	7	3	984	3	FOXF1	16	86546529	Splice_Site	SNP	A	TCGA-DU-5874-01A-11D-1705-08	84384694	86546529	3808224	39	23489											
SCPEP1	59342	broad.mit.edu	37	chr17	55072877	55072877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcattccagtctcttctcGaagacaaaggtctggcagag	10	11	10	10	1	3	2	0	0	3	2	6	3	4	2	1	2	1	2	1	2	2	3	rs138036655		TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:55072877G>A	ENST00000262288.3	+	8	722	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	223					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTCTCTTCTCGAAGACAAAGG	0.502													A	55072877	G	A	55072877	3	1	363	1	0	0	0	0	1	0	0	0	14028	1059	37	1	697	1	SCPEP1	17	55072877	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		55072877	26122333	40	23490											
USH1G	124590	broad.mit.edu	37	chr17	72916252	72916252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgaaggtgccttcgcCgccctgcttgcgccgctcca	4	9	11	17	4	0	1	0	1	0	0	2	2	1	1	6	1	3	2	6	1	1	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr17:72916252C>T	ENST00000319642.1	-	2	861	c.679G>A	c.(679-681)Ggc>Agc	p.G227S		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	227					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GTGCCTTCGCCGCCCTGCTTG	0.692													T	72916252	C	T	72916252	3	4	363	1	0	0	0	0	1	0	0	0	17137	652	23	1	714	1	USH1G	17	72916252	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	17843375	72916252	8278958	41	23491											
PPP4R1	9989	broad.mit.edu	37	chr18	9549244	9549244	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcaagcagcactcgcacGttaggaaccctgtcatttgc	9	11	9	12	2	1	0	1	0	0	0	2	1	1	1	1	1	5	5	1	1	3	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:9549244G>A	ENST00000400556.3	-	19	2713	c.2640C>T	c.(2638-2640)aaC>aaT	p.N880N	PPP4R1_ENST00000400555.3_Silent_p.N863N	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	880					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						GCACTCGCACGTTAGGAACCC	0.478													A	9549244	G	A	9549244	2	1	363	1	0	0	0	0	0	0	0	1	12485	1136	40	1		1	PPP4R1	18	9549244	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		9549244	68528004	42	23492											
KCNG2	26251	broad.mit.edu	37	chr18	77623899	77623899	+	Frame_Shift_Del	DEL	T	T	-																															tcgaccgcagcccgtgcgccTtccgcgccatcgtggcgctt																										TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr18:77623899delT	ENST00000316249.3	+	1	232	c.232delT	c.(232-234)ttcfs	p.F78fs		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	78					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		CCCGTGCGCCTTCCGCGCCAT	0.716													-	77623899	T	-	77623899	7	5	363	1	0	1	0	1	0	0	0	0	8086	1609	56	0	234	0	KCNG2	18	77623899	Frame_Shift_Del	DEL	T	TCGA-DU-5874-01A-11D-1705-08	68074655	77623899	453349	43	23493											
FSTL3	10272	broad.mit.edu	37	chr19	681421	681421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggtgtgtcgagcggcGccctgccctgtgccctccag	2	9	15	15	4	0	0	0	0	0	0	2	1	1	0	4	2	4	0	4	2	0	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr19:681421G>A	ENST00000166139.4	+	4	626	c.594G>A	c.(592-594)gcG>gcA	p.A198A	FSTL3_ENST00000592947.1_3'UTR	NM_005860.2	NP_005851.1	O95633	FSTL3_HUMAN	follistatin-like 3 (secreted glycoprotein)	198	Kazal-like 2.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of osteoclast differentiation|ossification|positive regulation of cell-cell adhesion|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	extracellular space|nucleus	activin binding|fibronectin binding						all_epithelial(18;2.19e-21)|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)		GTCGAGCGGCGCCCTGCCCTG	0.692			T	CCND1	B-CLL								A	681421	G	A	681421	2	1	363	1	0	0	0	0	0	0	0	1	6130	1074	38	1		1	FSTL3	19	681421	Silent	SNP	G	TCGA-DU-5874-01A-11D-1705-08		681421	58447562	44	23494											
CD93	22918	broad.mit.edu	37	chr20	23065004	23065004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccctcttcgctctcCgcttgcgatagaccagtagc	5	12	7	17	3	3	1	0	0	3	1	7	2	4	1	4	0	2	3	4	0	2	4			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:23065004C>T	ENST00000246006.4	-	1	1973	c.1826G>A	c.(1825-1827)cGg>cAg	p.R609Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	609					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTTCGCTCTCCGCTTGCGATA	0.577													T	23065004	C	T	23065004	3	4	363	1	0	0	0	0	1	0	0	0	3077	652	23	1	140	1	CD93	20	23065004	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		23065004	39960516	45	23495											
CHMP4B	128866	broad.mit.edu	37	chr20	32439895	32439895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttactaggatgagctcatgGcggaattagaagaactagaa	15	10	11	5	1	1	4	1	1	0	3	1	6	1	6	0	3	3	1	0	3	8	5			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr20:32439895G>A	ENST00000217402.2	+	4	661	c.496G>A	c.(496-498)Gcg>Acg	p.A166T		NM_176812.4	NP_789782.1	Q9H444	CHM4B_HUMAN	charged multivesicular body protein 4B	166					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13						TGAGCTCATGGCGGAATTAGA	0.493													A	32439895	G	A	32439895	3	1	363	1	0	0	0	0	1	0	0	0	3387	1203	42	2	510	2	CHMP4B	20	32439895	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08	9374891	32439895	30585625	46	23496											
SON	6651	broad.mit.edu	37	chr21	34921914	34921914	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaagaagaaagaaaaggAaaaaaaatataaaagacagc	29	2	8	2	0	0	4	0	0	0	4	0	6	0	5	0	1	1	0	0	1	13	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr21:34921914A>G	ENST00000356577.4	+	3	852	c.377A>G	c.(376-378)gAa>gGa	p.E126G	SON_ENST00000381692.2_Intron|SON_ENST00000300278.4_Missense_Mutation_p.E126G|SON_ENST00000290239.6_Missense_Mutation_p.E126G|SON_ENST00000381679.4_Missense_Mutation_p.E126G	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	126				E -> K (in Ref. 7; BAB14985).	anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						aaagaaaaggaaaaaaaaTAT	0.303											OREG0003562	type=REGULATORY REGION|Gene=AK091233|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	34921914	A	G	34921914	3	3	363	1	0	0	0	0	1	0	0	0	15020	246	9	3	387	3	SON	21	34921914	Missense_Mutation	SNP	A	TCGA-DU-5874-01A-11D-1705-08		34921914	13207981	47	23497											
LZTR1	8216	broad.mit.edu	37	chr22	21348256	21348256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtagccattgtcacagcgcGgagccgctggcttcgcagga	7	7	14	13	5	1	0	1	0	0	0	2	2	1	2	2	3	3	4	2	3	1	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:21348256G>A	ENST00000215739.8	+	13	1756	c.1397G>A	c.(1396-1398)cGg>cAg	p.R466Q	LZTR1_ENST00000389355.3_Missense_Mutation_p.R447Q|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	466	BTB 1.				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			GTCACAGCGCGGAGCCGCTGG	0.647													A	21348256	G	A	21348256	3	1	363	1	0	0	0	0	1	0	0	0	9208	1116	39	1	1447	1	LZTR1	22	21348256	Missense_Mutation	SNP	G	TCGA-DU-5874-01A-11D-1705-08		21348256	29956310	48	23498											
FBLN1	2192	broad.mit.edu	37	chr22	45931164	45931164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggatccttccgctgccgacCcaagctacagtgcaagagtg	9	7	12	13	2	0	1	0	0	0	1	2	3	2	2	4	1	4	3	4	1	3	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chr22:45931164C>A	ENST00000348697.2	+	8	1016	c.869C>A	c.(868-870)cCc>cAc	p.P290H	FBLN1_ENST00000442170.2_Missense_Mutation_p.P290H|FBLN1_ENST00000402984.3_Missense_Mutation_p.P328H|FBLN1_ENST00000262722.7_Missense_Mutation_p.P290H|FBLN1_ENST00000340923.5_Missense_Mutation_p.P290H|FBLN1_ENST00000327858.6_Missense_Mutation_p.P290H			P23142	FBLN1_HUMAN	fibulin 1	290	EGF-like 3; calcium-binding (Potential).				interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CGCTGCCGACCCAAGCTACAG	0.483													A	45931164	C	A	45931164	3	1	363	1	0	0	0	0	1	0	0	0	5747	623	22	4	899	4	FBLN1	22	45931164	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	24582908	45931164	5373402	49	23499											
HCCS	3052	broad.mit.edu	37	chrX	11133053	11133053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctatgagtacgtggagtgtCccattaggggcactgcggct	7	10	14	10	2	0	1	0	1	0	0	1	2	1	2	2	4	2	3	2	4	3	3			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:11133053C>A	ENST00000321143.4	+	3	401	c.199C>A	c.(199-201)Ccc>Acc	p.P67T	HCCS_ENST00000380763.3_Missense_Mutation_p.P67T|HCCS_ENST00000380762.4_Missense_Mutation_p.P67T	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	67					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						CGTGGAGTGTCCCATTAGGGG	0.498													A	11133053	C	A	11133053	3	1	363	1	0	0	0	0	1	0	0	0	7045	855	30	4	205	4	HCCS	23	11133053	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08		11133053	144137507	50	23500											
GABRE	2564	broad.mit.edu	37	chrX	151123361	151123361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgcaccactcacagcaggCcagcttggagcagaggctgc	9	6	12	14	0	1	1	1	0	0	1	1	2	1	2	2	3	5	5	2	3	0	2			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:151123361C>T	ENST00000370328.3	-	9	1386	c.1333G>A	c.(1333-1335)Gcc>Acc	p.A445T	GABRE_ENST00000483564.1_5'UTR|GABRE_ENST00000370325.1_3'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	445					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TCACAGCAGGCCAGCTTGGAG	0.617													T	151123361	C	T	151123361	3	4	363	1	0	0	0	0	1	0	0	0	6222	739	26	2	191	2	GABRE	23	151123361	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	139990308	151123361	4147199	51	23501											
ATP2B3	492	broad.mit.edu	37	chrX	152845601	152845601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtggacgagaacgaggagCgcctccgggcccccccgccc	7	2	14	18	6	0	1	0	0	0	1	1	5	1	3	6	3	2	0	6	3	1	0			TCGA-DU-5874-01A-11D-1705-08	TCGA-DU-5874-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	85d915b8-0184-4ec7-93ad-e9ffa2f5743b	0b75be09-bdd0-435e-84ad-0624c781a430	g.chrX:152845601C>T	ENST00000263519.4	+	20	3634	c.3508C>T	c.(3508-3510)Cgc>Tgc	p.R1170C	ATP2B3_ENST00000370186.1_3'UTR|ATP2B3_ENST00000349466.2_Missense_Mutation_p.R1170C|ATP2B3_ENST00000370181.2_3'UTR|ATP2B3_ENST00000359149.3_3'UTR	NM_001001344.2	NP_001001344.1	Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1170					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.R1170C(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAACGAGGAGCGCCTCCGGGC	0.592													T	152845601	C	T	152845601	3	4	363	1	0	0	0	0	1	0	0	0	1146	768	27	1	3744	1	ATP2B3	23	152845601	Missense_Mutation	SNP	C	TCGA-DU-5874-01A-11D-1705-08	1722240	152845601	2424959	52	23502											
NOC2L	26155	broad.mit.edu	37	chr1	892506	892506	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatctggcagggagtggaaCggcccctcttcctcctcaga	8	8	11	14	1	3	1	1	0	2	1	5	3	5	3	4	4	1	1	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:892506C>T	ENST00000327044.6	-	3	376	c.327G>A	c.(325-327)ccG>ccA	p.P109P	NOC2L_ENST00000487214.1_5'UTR	NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	109						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GGGAGTGGAACGGCCCCTCTT	0.577													T	892506	C	T	892506	2	4	364	1	0	0	0	0	0	0	0	1	10589	523	19	1		1	NOC2L	1	892506	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		892506	248358115	1	23503											
KLHL17	339451	broad.mit.edu	37	chr1	898614	898614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggctgcggtggggaacCggctctatgctgtgggcggg	4	8	21	8	3	1	0	0	0	1	0	1	2	1	1	1	7	3	3	1	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:898614C>T	ENST00000338591.3	+	7	1275	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	390	Interaction with F-actin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGTGGGGAACCGGCTCTATGC	0.687													T	898614	C	T	898614	3	4	364	1	0	0	0	0	1	0	0	0	8430	643	23	1	1194	1	KLHL17	1	898614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6108	898614	248352007	2	23504											
ISG15	9636	broad.mit.edu	37	chr1	949506	949506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtctggctgtccaccCgagcggtgtggcgctgcagg	4	7	17	13	4	1	0	0	0	1	0	2	1	2	0	2	4	3	4	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:949506C>T	ENST00000379389.4	+	2	297	c.146C>T	c.(145-147)cCg>cTg	p.P49L		NM_005101.3	NP_005092.1	P05161	ISG15_HUMAN	ISG15 ubiquitin-like modifier	49	Ubiquitin-like 1.				cell-cell signaling|interspecies interaction between organisms|ISG15-protein conjugation|negative regulation of type I interferon production|response to virus|type I interferon-mediated signaling pathway	cytosol|extracellular space	protein binding			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.05e-38)|OV - Ovarian serous cystadenocarcinoma(86;4.54e-23)|Colorectal(212;5.37e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00238)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GCTGTCCACCCGAGCGGTGTG	0.667													T	949506	C	T	949506	3	4	364	1	0	0	0	0	1	0	0	0	7911	652	23	1	152	1	ISG15	1	949506	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50892	949506	248301115	3	23505											
AGRN	375790	broad.mit.edu	37	chr1	986164	986164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactggagcgaaacggcCgcaagggtgccctgcgtgtg	7	7	15	12	4	1	0	1	0	1	0	2	2	1	1	2	3	4	1	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:986164C>T	ENST00000379370.2	+	30	5250	c.5200C>T	c.(5200-5202)Cgc>Tgc	p.R1734C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	1734	Laminin G-like 2.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton	p.R1734C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GCGAAACGGCCGCAAGGGTGC	0.706													T	986164	C	T	986164	3	4	364	1	0	0	0	0	1	0	0	0	397	652	23	1	5318	1	AGRN	1	986164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36658	986164	248264457	4	23506											
TNFRSF4	7293	broad.mit.edu	37	chr1	1148385	1148385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcaccaactccaggcttGtagctgtccaggggctgggt	7	9	13	12	0	1	0	1	0	0	0	3	0	3	0	3	4	3	5	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1148385G>A	ENST00000379236.3	-	3	361	c.357C>T	c.(355-357)taC>taT	p.Y119Y	TNFRSF4_ENST00000453580.1_5'UTR	NM_003327.3	NP_003318.1	P43489	TNR4_HUMAN	tumor necrosis factor receptor superfamily, member 4	119					immune response|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of B cell proliferation|positive regulation of immunoglobulin secretion|T cell proliferation	integral to plasma membrane	tumor necrosis factor receptor activity			large_intestine(1)|lung(2)|urinary_tract(1)	4	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;3.73e-36)|OV - Ovarian serous cystadenocarcinoma(86;1.01e-21)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTCCAGGCTTGTAGCTGTCCA	0.697													A	1148385	G	A	1148385	2	1	364	1	0	0	0	0	0	0	0	1	16397	1372	48	2		2	TNFRSF4	1	1148385	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162221	1148385	248102236	5	23507											
UBE2J2	118424	broad.mit.edu	37	chr1	1192381	1192381	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaacttaccgtgaagtcCgacgtctctatactgcccag	11	10	7	13	3	1	1	0	1	1	0	3	2	2	1	3	0	4	0	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1192381C>T	ENST00000347370.2	-	5	722	c.249G>A	c.(247-249)tcG>tcA	p.S83S	UBE2J2_ENST00000349431.6_Silent_p.S135S|UBE2J2_ENST00000339385.6_Silent_p.S100S|UBE2J2_ENST00000491779.1_5'UTR|UBE2J2_ENST00000400929.2_Silent_p.S83S|UBE2J2_ENST00000360466.2_Silent_p.S135S|UBE2J2_ENST00000348298.7_Silent_p.S83S|UBE2J2_ENST00000400930.4_Silent_p.S151S	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2	135					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		CCGTGAAGTCCGACGTCTCTA	0.577													T	1192381	C	T	1192381	2	4	364	1	0	0	0	0	0	0	0	1	16963	639	23	1		1	UBE2J2	1	1192381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43996	1192381	248058240	6	23508											
UBE2J2	118424	broad.mit.edu	37	chr1	1203186	1203186	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccagcaggggccggcaGaggcctgcgtggcagcgaca	7	3	17	14	4	0	1	0	0	0	1	1	2	0	1	3	5	3	3	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1203186G>T	ENST00000347370.2	-	0	375				UBE2J2_ENST00000349431.6_Intron|UBE2J2_ENST00000491779.1_Intron|UBE2J2_ENST00000400929.2_Intron|UBE2J2_ENST00000360466.2_Intron|UBE2J2_ENST00000348298.7_Intron|UBE2J2_ENST00000400930.4_Intron	NM_194458.1	NP_919440.1	Q8N2K1	UB2J2_HUMAN	ubiquitin-conjugating enzyme E2, J2						response to unfolded protein	endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			cervix(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.66e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.53e-21)|Colorectal(212;0.00019)|COAD - Colon adenocarcinoma(227;0.000215)|Kidney(185;0.00255)|BRCA - Breast invasive adenocarcinoma(365;0.00266)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0371)|Lung(427;0.205)		GGGGCCGGCAGAGGCCTGCGT	0.682													T	1203186	G	T	1203186	1	4	364	1	0	0	0	0	0	0	0	0	16963	957	33	4		4	UBE2J2	1	1203186	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10805	1203186	248047435	7	23509											
ACAP3	116983	broad.mit.edu	37	chr1	1231407	1231407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacctcaccgggagctgctgGctgtgggtttcctgctgcct	3	11	13	14	1	1	0	1	0	0	0	2	1	2	1	4	3	4	5	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1231407G>A	ENST00000354700.5	-	17	1692	c.1490C>T	c.(1489-1491)gCc>gTc	p.A497V	ACAP3_ENST00000353662.3_Missense_Mutation_p.A455V	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	497	Arf-GAP.				filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						GGAGCTGCTGGCTGTGGGTTT	0.622													A	1231407	G	A	1231407	3	1	364	1	0	0	0	0	1	0	0	0	120	1203	42	2	1046	2	ACAP3	1	1231407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28221	1231407	248019214	8	23510											
ACAP3	116983	broad.mit.edu	37	chr1	1234013	1234013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctccatcaccaccccactgGgcgcgtccacgtcaaactcc	8	6	6	21	3	2	0	2	0	0	0	5	0	5	0	7	1	1	0	7	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1234013G>T	ENST00000354700.5	-	11	999	c.797C>A	c.(796-798)cCc>cAc	p.P266H	ACAP3_ENST00000353662.3_Missense_Mutation_p.P224H	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	266					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						CACCCCACTGGGCGCGTCCAC	0.637													T	1234013	G	T	1234013	3	4	364	1	0	0	0	0	1	0	0	0	120	1232	43	4	1763	4	ACAP3	1	1234013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2606	1234013	248016608	9	23511											
ACAP3	116983	broad.mit.edu	37	chr1	1235548	1235548	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcactcacagagtccaggAtctcaaacttcttcttggcc	10	10	7	14	1	4	1	2	0	3	1	6	2	5	2	2	2	1	1	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1235548A>G	ENST00000354700.5	-	7	759	c.557T>C	c.(556-558)aTc>aCc	p.I186T	ACAP3_ENST00000353662.3_Missense_Mutation_p.I144T	NM_030649.2	NP_085152.2	Q96P50	ACAP3_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 3	186					filopodium assembly|regulation of ARF GTPase activity|signal transduction		ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			endometrium(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	14						AGAGTCCAGGATCTCAAACTT	0.652													G	1235548	A	G	1235548	3	3	364	1	0	0	0	0	1	0	0	0	120	333	12	3	2019	3	ACAP3	1	1235548	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1535	1235548	248015073	10	23512											
MXRA8	54587	broad.mit.edu	37	chr1	1289437	1289437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcctcactcctgtaaaGcatctggtcccctgcagcca	8	10	8	15	0	2	0	1	0	1	0	5	1	5	0	5	1	3	3	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1289437G>A	ENST00000477278.2	-	8	1681	c.1168C>T	c.(1168-1170)Ctt>Ttt	p.L390F	MXRA8_ENST00000445648.2_Missense_Mutation_p.L399F|MXRA8_ENST00000309212.6_Missense_Mutation_p.L399F|MXRA8_ENST00000342753.4_Missense_Mutation_p.L298F	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8							integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTCCTGTAAAGCATCTGGTCC	0.642													A	1289437	G	A	1289437	3	1	364	1	0	0	0	0	1	0	0	0	10081	971	34	2	145	2	MXRA8	1	1289437	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53889	1289437	247961184	11	23513											
MXRA8	54587	broad.mit.edu	37	chr1	1290239	1290239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctccagcggctcgatacGcagtgagaagtcaccgcgct	9	6	12	14	5	1	1	1	1	0	1	3	4	2	1	3	1	2	3	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1290239G>A	ENST00000477278.2	-	5	1258	c.745C>T	c.(745-747)Cgt>Tgt	p.R249C	MXRA8_ENST00000445648.2_Missense_Mutation_p.R258C|MXRA8_ENST00000309212.6_Missense_Mutation_p.R258C|MXRA8_ENST00000342753.4_Missense_Mutation_p.R157C	NM_001282583.1	NP_001269512.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8		Ig-like V-type 2.					integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCTCGATACGCAGTGAGAAG	0.677													A	1290239	G	A	1290239	3	1	364	1	0	0	0	0	1	0	0	0	10081	1087	38	1	580	1	MXRA8	1	1290239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	802	1290239	247960382	12	23514											
CCNL2	81669	broad.mit.edu	37	chr1	1323366	1323366	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccgccttggctttcttGgcgccctccagcctcctctt	1	14	8	18	2	2	0	0	0	2	0	5	0	5	0	6	2	1	1	6	2	0	4	rs148355846		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1323366G>T	ENST00000400809.3	-	9	1091	c.1086C>A	c.(1084-1086)gcC>gcA	p.A362A	CCNL2_ENST00000408952.5_Silent_p.A140A|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	362					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		TGGCTTTCTTGGCGCCCTCCA	0.577													T	1323366	G	T	1323366	2	4	364	1	0	0	0	0	0	0	0	1	2962	1335	47	4		4	CCNL2	1	1323366	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33127	1323366	247927255	13	23515											
CCNL2	81669	broad.mit.edu	37	chr1	1325839	1325839	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaaaatgccgaagaacCtttttccgagcataaagctg	16	9	8	8	2	0	2	0	1	0	1	1	4	1	2	3	0	4	2	3	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1325839C>A	ENST00000400809.3	-	7	869	c.864G>T	c.(862-864)aaG>aaT	p.K288N	CCNL2_ENST00000408952.5_Splice_Site_p.K66N|CCNL2_ENST00000505849.1_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	288					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GCCGAAGAACCTTTTTCCGAG	0.433													A	1325839	C	A	1325839	5	1	364	1	0	0	0	0	0	0	1	0	2962	695	24	4	718	4	CCNL2	1	1325839	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2473	1325839	247924782	14	23516											
CCNL2	81669	broad.mit.edu	37	chr1	1328833	1328833	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaacacctgaaggtacataAcgattatctggaagatacgg	15	9	9	8	2	1	2	0	1	1	1	1	4	1	3	1	3	4	1	1	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1328833A>T	ENST00000400809.3	-	5	607	c.602T>A	c.(601-603)gTt>gAt	p.V201D	CCNL2_ENST00000408918.4_Missense_Mutation_p.V201D|CCNL2_ENST00000408952.5_5'UTR	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	201	Cyclin-like 2.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		AAGGTACATAACGATTATCTG	0.473													T	1328833	A	T	1328833	3	4	364	1	0	0	0	0	1	0	0	0	2962	43	2	5	1014	5	CCNL2	1	1328833	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2994	1328833	247921788	15	23517											
CCNL2	81669	broad.mit.edu	37	chr1	1334048	1334048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctgcccggtagccatggCcacctagagtagaagaaagt	12	6	11	12	1	0	3	0	0	0	3	0	3	0	3	5	2	2	2	5	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1334048C>T	ENST00000400809.3	-	2	297	c.292G>A	c.(292-294)Gcc>Acc	p.A98T	CCNL2_ENST00000408918.4_Missense_Mutation_p.A98T	NM_030937.4	NP_112199.2	Q96S94	CCNL2_HUMAN	cyclin L2	98	Cyclin-like 1.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(2)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;2.03e-36)|OV - Ovarian serous cystadenocarcinoma(86;4.17e-22)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.0023)|BRCA - Breast invasive adenocarcinoma(365;0.00465)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.146)		GTAGCCATGGCCACCTAGAGT	0.517													T	1334048	C	T	1334048	3	4	364	1	0	0	0	0	1	0	0	0	2962	739	26	2	1336	2	CCNL2	1	1334048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5215	1334048	247916573	16	23518											
VWA1	64856	broad.mit.edu	37	chr1	1372468	1372468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgccagtctggtgcacgtgGgcagtcggccatacaccgag	7	7	15	12	3	1	0	0	0	1	0	2	1	1	0	3	3	3	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1372468G>A	ENST00000476993.1	+	2	313	c.235G>A	c.(235-237)Ggc>Agc	p.G79S	VWA1_ENST00000404702.3_Intron|VWA1_ENST00000338660.5_Intron	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	79	VWFA.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGTGCACGTGGGCAGTCGGCC	0.677													A	1372468	G	A	1372468	3	1	364	1	0	0	0	0	1	0	0	0	17340	1232	43	2	241	2	VWA1	1	1372468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38420	1372468	247878153	17	23519											
ATAD3C	219293	broad.mit.edu	37	chr1	1387813	1387813	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggacaaagtgacagccaCggtaaacatactcataaaac	17	5	8	11	2	1	1	1	1	0	0	1	2	1	2	2	2	4	1	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1387813C>T	ENST00000378785.2	+	3	1216	c.221C>T	c.(220-222)aCg>aTg	p.T74M		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	74							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GTGACAGCCACGGTAAACATA	0.602													T	1387813	C	T	1387813	5	4	364	1	0	0	0	0	0	0	1	0	1080	550	19	1	231	1	ATAD3C	1	1387813	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15345	1387813	247862808	18	23520											
ATAD3B	83858	broad.mit.edu	37	chr1	1421506	1421506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccagcctggaagcacGggtgcgcgacatcgccatag	9	4	14	14	4	0	0	0	0	0	0	1	2	0	1	3	2	4	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421506G>A	ENST00000308647.7	+	10	1096	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	327							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTGGAAGCACGGGTGCGCGAC	0.662													A	1421506	G	A	1421506	3	1	364	1	0	0	0	0	1	0	0	0	1079	1116	39	1	1018	1	ATAD3B	1	1421506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33693	1421506	247829115	19	23521											
ATAD3B	83858	broad.mit.edu	37	chr1	1421519	1421519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcacgggtgcgcgacatCgccatagcaaccaggaacac	13	3	12	13	4	0	0	0	0	0	0	1	3	0	1	2	2	5	2	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1421519C>T	ENST00000308647.7	+	10	1109	c.993C>T	c.(991-993)atC>atT	p.I331I		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	331							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGCGCGACATCGCCATAGCAA	0.647													T	1421519	C	T	1421519	2	4	364	1	0	0	0	0	0	0	0	1	1079	874	31	1		1	ATAD3B	1	1421519	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	1421519	247829102	20	23522											
ATAD3B	83858	broad.mit.edu	37	chr1	1424620	1424620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcagagccacactgaacGccttcctgtaccacatgggc	10	7	8	16	1	1	2	1	1	0	1	2	2	2	2	5	1	3	1	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1424620G>A	ENST00000308647.7	+	13	1419	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	435							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CACACTGAACGCCTTCCTGTA	0.597													A	1424620	G	A	1424620	3	1	364	1	0	0	0	0	1	0	0	0	1079	1087	38	1	1353	1	ATAD3B	1	1424620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3101	1424620	247826001	21	23523											
MIB2	142678	broad.mit.edu	37	chr1	1558852	1558852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggacccagacccccaggCgggcgtgcaggtgggcatgc	7	4	16	14	2	0	1	0	0	0	1	0	2	0	2	3	5	2	2	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1558852C>T	ENST00000357210.4	+	3	410	c.194C>T	c.(193-195)gCg>gTg	p.A65V	MIB2_ENST00000512004.1_3'UTR|MIB2_ENST00000360522.4_Missense_Mutation_p.A65V|MIB2_ENST00000378710.3_Missense_Mutation_p.A65V|MIB2_ENST00000504599.1_Missense_Mutation_p.A21V|MIB2_ENST00000520777.1_Missense_Mutation_p.A122V|MIB2_ENST00000518681.1_Missense_Mutation_p.A122V|MIB2_ENST00000378712.1_Missense_Mutation_p.A7V|MIB2_ENST00000378708.1_Missense_Mutation_p.A7V|MIB2_ENST00000355826.5_Missense_Mutation_p.A108V|MIB2_ENST00000505820.2_Missense_Mutation_p.A122V	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	65	MIB/HERC2 1.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GACCCCCAGGCGGGCGTGCAG	0.736													T	1558852	C	T	1558852	3	4	364	1	0	0	0	0	1	0	0	0	9642	768	27	1	375	1	MIB2	1	1558852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134232	1558852	247691769	22	23524											
MIB2	142678	broad.mit.edu	37	chr1	1560486	1560486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accaatgtgtaccgtgtgggCcacaagggcaaggtggacct	10	7	14	10	1	0	0	0	0	0	0	0	1	0	1	4	4	1	2	4	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1560486C>T	ENST00000357210.4	+	6	1032	c.816C>T	c.(814-816)ggC>ggT	p.G272G	MIB2_ENST00000360522.4_Silent_p.G272G|MIB2_ENST00000378710.3_Silent_p.G272G|MIB2_ENST00000504599.1_Silent_p.G228G|MIB2_ENST00000520777.1_Silent_p.G329G|MIB2_ENST00000518681.1_Intron|MIB2_ENST00000378712.1_Intron|MIB2_ENST00000378708.1_Silent_p.G214G|MIB2_ENST00000355826.5_Silent_p.G315G|MIB2_ENST00000505820.2_Silent_p.G329G	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	272	MIB/HERC2 2.				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		ACCGTGTGGGCCACAAGGGCA	0.632													T	1560486	C	T	1560486	2	4	364	1	0	0	0	0	0	0	0	1	9642	726	26	2		2	MIB2	1	1560486	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1634	1560486	247690135	23	23525											
MIB2	142678	broad.mit.edu	37	chr1	1563491	1563491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacggaggtgccaaacatCgatgttaccgccaccaacag	12	6	9	14	3	1	0	1	0	0	0	2	2	1	1	4	2	4	1	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1563491C>T	ENST00000357210.4	+	14	2163	c.1947C>T	c.(1945-1947)atC>atT	p.I649I	MIB2_ENST00000360522.4_Silent_p.I614I|MIB2_ENST00000378710.3_Silent_p.I613I|MIB2_ENST00000504599.1_Silent_p.I605I|MIB2_ENST00000520777.1_Silent_p.I702I|MIB2_ENST00000518681.1_Silent_p.I641I|MIB2_ENST00000378712.1_Silent_p.I526I|MIB2_ENST00000378708.1_Silent_p.I555I|MIB2_ENST00000355826.5_Silent_p.I692I|MIB2_ENST00000505820.2_Silent_p.I706I	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	649					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGCCAAACATCGATGTTACCG	0.662													T	1563491	C	T	1563491	2	4	364	1	0	0	0	0	0	0	0	1	9642	874	31	1		1	MIB2	1	1563491	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3005	1563491	247687130	24	23526											
CDK11B	984	broad.mit.edu	37	chr1	1575652	1575652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgacctgcagggccggcaGgtacttgggcagctcctgct	5	8	14	14	1	0	1	0	1	0	0	1	1	1	1	4	4	4	6	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1575652G>T	ENST00000407249.3	-	12	1245	c.1246C>A	c.(1246-1248)Ctg>Atg	p.L416M	CDK11B_ENST00000340677.5_Missense_Mutation_p.L403M|CDK11B_ENST00000317673.7_Missense_Mutation_p.L414M|CDK11B_ENST00000341832.6_Missense_Mutation_p.L369M			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	426					apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						AGGGCCGGCAGGTACTTGGGC	0.682													T	1575652	G	T	1575652	3	4	364	1	0	0	0	0	1	0	0	0	3157	991	35	4	1151	4	CDK11B	1	1575652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12161	1575652	247674969	25	23527											
NADK	65220	broad.mit.edu	37	chr1	1685602	1685602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatggaggccccggccGcggccgcatacgccgtgctg	5	5	16	15	6	1	0	1	0	0	0	1	2	1	2	5	5	2	2	5	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1685602G>A	ENST00000344463.4	-	12	1645	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	NADK_ENST00000341426.5_Missense_Mutation_p.A330V|NADK_ENST00000341991.3_Missense_Mutation_p.A330V|NADK_ENST00000378625.1_Missense_Mutation_p.A475V|NADK_ENST00000342348.5_Missense_Mutation_p.A298V			O95544	NADK_HUMAN	NAD kinase	330					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGCCCCGGCCGCGGCCGCATA	0.716													A	1685602	G	A	1685602	3	1	364	1	0	0	0	0	1	0	0	0	10213	1087	38	1	363	1	NADK	1	1685602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109950	1685602	247565019	26	23528											
GNB1	2782	broad.mit.edu	37	chr1	1722020	1722020	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtctgctggccggtctcGatgtcccacagggcactgga	5	9	14	13	3	2	0	0	0	2	0	5	2	3	1	2	4	1	2	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1722020G>A	ENST00000378609.4	-	9	844	c.513C>T	c.(511-513)atC>atT	p.I171I		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	171					cellular response to glucagon stimulus|energy reserve metabolic process|muscarinic acetylcholine receptor signaling pathway|platelet activation|Ras protein signal transduction|synaptic transmission	heterotrimeric G-protein complex	GTPase activity|GTPase binding|signal transducer activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		GGCCGGTCTCGATGTCCCACA	0.542													A	1722020	G	A	1722020	2	1	364	1	0	0	0	0	0	0	0	1	6571	1048	37	1		1	GNB1	1	1722020	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36418	1722020	247528601	27	23529											
TMEM52	339456	broad.mit.edu	37	chr1	1849365	1849365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtagttgagtattggggcCcgactcctggggcactggag	6	10	17	8	1	0	1	0	1	0	0	1	3	1	2	2	6	0	4	2	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1849365C>A	ENST00000378602.3	-	2	781	c.541G>T	c.(541-543)Ggc>Tgc	p.G181C	TMEM52_ENST00000310991.3_Missense_Mutation_p.G196C			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	196						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GTATTGGGGCCCGACTCCTGG	0.612													A	1849365	C	A	1849365	3	1	364	1	0	0	0	0	1	0	0	0	16278	623	22	4	47	4	TMEM52	1	1849365	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127345	1849365	247401256	28	23530											
GABRD	2563	broad.mit.edu	37	chr1	1957156	1957156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catccggctgcagcccgacgGcgtgatcctgtacagcatcc	7	7	11	16	4	0	1	0	1	0	0	3	2	3	1	4	2	4	4	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1957156G>A	ENST00000378585.4	+	4	532	c.449G>A	c.(448-450)gGc>gAc	p.G150D		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	150						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCCGACGGCGTGATCCTG	0.677													A	1957156	G	A	1957156	3	1	364	1	0	0	0	0	1	0	0	0	6221	1203	42	2	463	2	GABRD	1	1957156	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107791	1957156	247293465	29	23531											
GABRD	2563	broad.mit.edu	37	chr1	1961455	1961455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccattgtcctcttctccCtctctgctgccggcgtcacg	3	12	8	18	4	4	0	1	0	3	0	7	0	5	0	4	1	2	1	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:1961455C>A	ENST00000378585.4	+	9	1176	c.1093C>A	c.(1093-1095)Ctc>Atc	p.L365I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	365						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CCTCTTCTCCCTCTCTGCTGC	0.692													A	1961455	C	A	1961455	3	1	364	1	0	0	0	0	1	0	0	0	6221	681	24	4	1127	4	GABRD	1	1961455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4299	1961455	247289166	30	23532											
C1orf86	199990	broad.mit.edu	37	chr1	2125253	2125253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagcagccggtaggaacGgcccgggccccacaggtccg	8	3	16	14	4	0	1	0	1	0	0	1	2	1	2	5	5	3	2	5	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2125253G>A	ENST00000378545.3	-	4	603	c.604C>T	c.(604-606)Cgt>Tgt	p.R202C	C1orf86_ENST00000400919.3_5'UTR|C1orf86_ENST00000487186.1_5'UTR|C1orf86_ENST00000378546.4_Missense_Mutation_p.R99C	NM_001282670.1	NP_001269599.1	Q6NZ36	CA086_HUMAN	chromosome 1 open reading frame 86	99										central_nervous_system(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	all_cancers(77;0.000134)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;1.14e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.09e-37)|OV - Ovarian serous cystadenocarcinoma(86;1.5e-23)|GBM - Glioblastoma multiforme(42;1.61e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.0134)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		CGGTAGGAACGGCCCGGGCCC	0.706													A	2125253	G	A	2125253	3	1	364	1	0	0	0	0	1	0	0	0	2084	1116	39	1	495	1	C1orf86	1	2125253	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163798	2125253	247125368	31	23533											
MORN1	79906	broad.mit.edu	37	chr1	2288928	2288928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccaaatgcagctccaGgtctcccctgggcaggggca	8	5	13	15	0	1	0	0	0	1	0	3	0	2	0	4	5	2	5	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2288928G>T	ENST00000378531.3	-	10	1152	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Missense_Mutation_p.L327M	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	327										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		TGCAGCTCCAGGTCTCCCCTG	0.672													T	2288928	G	T	2288928	3	4	364	1	0	0	0	0	1	0	0	0	9784	991	35	4	534	4	MORN1	1	2288928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163675	2288928	246961693	32	23534											
MORN1	79906	broad.mit.edu	37	chr1	2318951	2318951	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctcccagaacaaactGtccagagaaggtgtctcctg	11	8	10	12	0	2	2	0	0	2	2	5	3	3	2	3	2	2	1	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2318951G>A	ENST00000378531.3	-	4	438	c.265C>T	c.(265-267)Cag>Tag	p.Q89*	MORN1_ENST00000606372.1_5'UTR|MORN1_ENST00000378529.3_Nonsense_Mutation_p.Q89*	NM_024848.1	NP_079124.1	Q5T089	MORN1_HUMAN	MORN repeat containing 1	89										breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(1)|ovary(2)	9	all_cancers(77;0.000194)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.3e-15)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;2.21e-37)|OV - Ovarian serous cystadenocarcinoma(86;5.01e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.00137)|BRCA - Breast invasive adenocarcinoma(365;0.00488)|STAD - Stomach adenocarcinoma(132;0.00665)|KIRC - Kidney renal clear cell carcinoma(229;0.0203)|Lung(427;0.212)		AGAACAAACTGTCCAGAGAAG	0.612													A	2318951	G	A	2318951	4	1	364	1	0	0	0	0	0	1	0	0	9784	1386	48	2	1272	2	MORN1	1	2318951	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30023	2318951	246931670	33	23535											
RER1	11079	broad.mit.edu	37	chr1	2328570	2328570	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagatttatcagtcctggCtagacaagtccacaccctac	11	11	6	13	0	2	2	1	0	1	2	4	2	4	2	3	1	1	1	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2328570C>T	ENST00000605895.1	+	3	230	c.97C>T	c.(97-99)Cta>Tta	p.L33L	RER1_ENST00000488353.1_Silent_p.L33L|RER1_ENST00000378518.1_Silent_p.L33L|RER1_ENST00000378512.1_Silent_p.L33L|RER1_ENST00000378513.3_Silent_p.L33L	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	33					retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		TCAGTCCTGGCTAGACAAGTC	0.502													T	2328570	C	T	2328570	2	4	364	1	0	0	0	0	0	0	0	1	13318	796	28	2		2	RER1	1	2328570	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9619	2328570	246922051	34	23536											
PEX10	5192	broad.mit.edu	37	chr1	2340118	2340118	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctcccctgcaagggtcGcccactgtcggggtcagcct	5	7	13	16	2	1	0	1	0	0	0	4	0	2	0	4	4	2	2	4	4	1	0	rs61750434		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2340118G>A	ENST00000288774.3	-	3	400	c.373C>T	c.(373-375)Cga>Tga	p.R125*	PEX10_ENST00000447513.2_Nonsense_Mutation_p.R125*|PEX10_ENST00000507596.1_Nonsense_Mutation_p.R125*|PEX10_ENST00000515760.1_5'UTR	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	125					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		TGCAAGGGTCGCCCACTGTCG	0.706													A	2340118	G	A	2340118	4	1	364	1	0	0	0	0	0	1	0	0	11813	1095	38	1	683	1	PEX10	1	2340118	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11548	2340118	246910503	35	23537											
PLCH2	9651	broad.mit.edu	37	chr1	2411398	2411398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggacagcctggctcgccGccagcgcaccagggaccaat	9	3	13	16	4	0	0	0	0	0	0	1	3	0	2	5	3	2	2	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2411398G>A	ENST00000449969.1	+	3	577	c.416G>A	c.(415-417)cGc>cAc	p.R139H	PLCH2_ENST00000378488.3_Missense_Mutation_p.R166H|PLCH2_ENST00000419816.2_Missense_Mutation_p.R166H|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.R166H			O75038	PLCH2_HUMAN	phospholipase C, eta 2	166	Necessary for plasma membrane localization (By similarity).|PH.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		CTGGCTCGCCGCCAGCGCACC	0.687													A	2411398	G	A	2411398	3	1	364	1	0	0	0	0	1	0	0	0	12115	1087	38	1	507	1	PLCH2	1	2411398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71280	2411398	246839223	36	23538											
PLCH2	9651	broad.mit.edu	37	chr1	2418794	2418794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtatgcttgggtcctgcagGctggctgccgctgcgtggag	3	11	17	10	2	0	0	0	0	0	0	1	1	1	1	2	4	4	6	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2418794G>A	ENST00000449969.1	+	7	1173	c.1012G>A	c.(1012-1014)Gct>Act	p.A338T	PLCH2_ENST00000378488.3_Missense_Mutation_p.A365T|PLCH2_ENST00000419816.2_Missense_Mutation_p.A365T|PLCH2_ENST00000288766.5_Intron|PLCH2_ENST00000378486.3_Missense_Mutation_p.A365T			O75038	PLCH2_HUMAN	phospholipase C, eta 2	365	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGTCCTGCAGGCTGGCTGCCG	0.647													A	2418794	G	A	2418794	3	1	364	1	0	0	0	0	1	0	0	0	12115	1203	42	2	1119	2	PLCH2	1	2418794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7396	2418794	246831827	37	23539											
PANK4	55229	broad.mit.edu	37	chr1	2452612	2452612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggtcgcctggatgaccttgGtctctgtgttgacgagatgg	5	12	15	9	3	1	3	0	2	1	1	3	5	1	4	2	4	0	1	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2452612G>T	ENST00000378466.3	-	3	362	c.350C>A	c.(349-351)aCc>aAc	p.T117N	PANK4_ENST00000435556.3_Missense_Mutation_p.T117N	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	117					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		GATGACCTTGGTCTCTGTGTT	0.522													T	2452612	G	T	2452612	3	4	364	1	0	0	0	0	1	0	0	0	11495	1261	44	4	2039	4	PANK4	1	2452612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33818	2452612	246798009	38	23540											
MMEL1	79258	broad.mit.edu	37	chr1	2522446	2522446	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctaccacacgcggcatcGctccttggggtgcatggggg	5	8	16	12	3	0	0	0	0	0	0	2	0	1	0	2	6	2	4	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2522446G>A	ENST00000288709.6	-	24	2536	c.2296C>T	c.(2296-2298)Cga>Tga	p.R766*	FAM213B_ENST00000484099.1_3'UTR|FAM213B_ENST00000378425.5_3'UTR|MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R775*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R618*|FAM213B_ENST00000419916.2_3'UTR|FAM213B_ENST00000444521.2_3'UTR|FAM213B_ENST00000378424.4_3'UTR	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	775					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		ACGCGGCATCGCTCCTTGGGG	0.701													A	2522446	G	A	2522446	4	1	364	1	0	0	0	0	0	1	0	0	9721	1095	38	1	20	1	MMEL1	1	2522446	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69834	2522446	246728175	39	23541											
ACTRT2	140625	broad.mit.edu	37	chr1	2938559	2938559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctaggcgtgaaacccagCgaccagcccctgcttgcaac	10	5	11	15	2	0	1	0	1	0	0	0	3	0	1	4	1	7	3	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938559C>T	ENST00000378404.2	+	1	514	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	103						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		TGAAACCCAGCGACCAGCCCC	0.597													T	2938559	C	T	2938559	2	4	364	1	0	0	0	0	0	0	0	1	219	767	27	1		1	ACTRT2	1	2938559	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	416113	2938559	246312062	40	23542											
ACTRT2	140625	broad.mit.edu	37	chr1	2938692	2938692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggtgctggctctctacGcctctgcctgtgtcacgggc	3	10	14	14	3	3	0	1	0	2	0	4	0	3	0	2	4	3	2	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:2938692G>A	ENST00000378404.2	+	1	647	c.442G>A	c.(442-444)Gcc>Acc	p.A148T		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	148						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		GGCTCTCTACGCCTCTGCCTG	0.617													A	2938692	G	A	2938692	3	1	364	1	0	0	0	0	1	0	0	0	219	1087	38	1	444	1	ACTRT2	1	2938692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	2938692	246311929	41	23543											
PRDM16	63976	broad.mit.edu	37	chr1	3102694	3102694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttgtctcctttaggtgacGgtgacgttgtaaataatatg	9	15	11	6	3	1	2	0	2	1	0	2	2	1	2	1	2	0	3	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3102694G>A	ENST00000378398.3	+	2	125	c.43G>A	c.(43-45)Ggt>Agt	p.G15S	PRDM16_ENST00000270722.5_Missense_Mutation_p.G15S|PRDM16_ENST00000511072.1_Missense_Mutation_p.G15S|PRDM16_ENST00000442529.2_Missense_Mutation_p.G15S|PRDM16_ENST00000514189.1_Missense_Mutation_p.G15S|PRDM16_ENST00000441472.2_Missense_Mutation_p.G15S|PRDM16_ENST00000378391.2_Missense_Mutation_p.G15S			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	15					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		TTTAGGTGACGGTGACGTTGT	0.622			T	EVI1	"MDS, AML"								A	3102694	G	A	3102694	3	1	364	1	0	0	0	0	1	0	0	0	12543	1116	39	1	49	1	PRDM16	1	3102694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164002	3102694	246147927	42	23544											
PRDM16	63976	broad.mit.edu	37	chr1	3322124	3322124	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgggcgctcgggcccaCgcctgccccgactgcgggaa	5	4	15	17	6	0	0	0	0	0	0	1	2	0	1	4	3	2	1	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3322124C>T	ENST00000378398.3	+	9	1183	c.1101C>T	c.(1099-1101)caC>caT	p.H367H	PRDM16_ENST00000270722.5_Silent_p.H366H|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Silent_p.H367H|PRDM16_ENST00000442529.2_Silent_p.H366H|PRDM16_ENST00000514189.1_Silent_p.H367H|PRDM16_ENST00000441472.2_Silent_p.H366H|PRDM16_ENST00000378391.2_Silent_p.H366H			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	366					brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CTCGGGCCCACGCCTGCCCCG	0.662			T	EVI1	"MDS, AML"								T	3322124	C	T	3322124	2	4	364	1	0	0	0	0	0	0	0	1	12543	535	19	1		1	PRDM16	1	3322124	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219430	3322124	245928497	43	23545											
ARHGEF16	27237	broad.mit.edu	37	chr1	3395175	3395175	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctctcctcggactccGcgtaagtgggctcccgggag	4	9	13	15	4	1	0	0	0	1	0	6	2	4	2	4	3	1	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3395175G>A	ENST00000378378.4	+	12	2218	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	ARHGEF16_ENST00000378371.2_Splice_Site_p.A317T|ARHGEF16_ENST00000413250.2_Splice_Site_p.A309T|ARHGEF16_ENST00000378373.1_Splice_Site_p.A317T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	605	PH.				activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTCGGACTCCGCGTAAGTGGG	0.682													A	3395175	G	A	3395175	5	1	364	1	0	0	0	0	0	0	1	0	902	1101	38	1	1855	1	ARHGEF16	1	3395175	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73051	3395175	245855446	44	23546											
MEGF6	1953	broad.mit.edu	37	chr1	3428618	3428618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatagcccgcgtgacacaCgcacttgaaggacccctggg	9	6	11	15	3	1	2	1	2	0	0	1	3	1	3	3	2	1	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3428618C>T	ENST00000356575.4	-	8	1154	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	MEGF6_ENST00000294599.4_Missense_Mutation_p.V205M	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	310	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCGTGACACACGCACTTGAAG	0.667													T	3428618	C	T	3428618	3	4	364	1	0	0	0	0	1	0	0	0	9537	536	19	1	3817	1	MEGF6	1	3428618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33443	3428618	245822003	45	23547											
TPRG1L	127262	broad.mit.edu	37	chr1	3545130	3545130	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaacaacgaggcgaaacTgggctactccatgaccaggg	13	6	11	11	2	0	1	0	1	0	0	1	3	1	1	2	3	4	1	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3545130T>C	ENST00000378344.2	+	5	853	c.782T>C	c.(781-783)cTg>cCg	p.L261P	TPRG1L_ENST00000344579.5_Missense_Mutation_p.L202P	NM_182752.3	NP_877429.2	Q5T0D9	TPRGL_HUMAN	tumor protein p63 regulated 1-like	261						cell junction|synaptic vesicle				endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(1)	8	all_cancers(77;0.0119)|all_epithelial(69;0.00481)|Ovarian(185;0.0634)|Lung NSC(156;0.162)|all_lung(157;0.172)	all_epithelial(116;7.37e-22)|all_lung(118;8.23e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.41e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.83e-22)|GBM - Glioblastoma multiforme(42;4.77e-14)|Colorectal(212;1.12e-05)|COAD - Colon adenocarcinoma(227;5.61e-05)|Kidney(185;0.000351)|BRCA - Breast invasive adenocarcinoma(365;0.000688)|KIRC - Kidney renal clear cell carcinoma(229;0.00553)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.201)		GAGGCGAAACTGGGCTACTCC	0.602													C	3545130	T	C	3545130	3	2	364	1	0	0	0	0	1	0	0	0	16520	1580	55	3	800	3	TPRG1L	1	3545130	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116512	3545130	245705491	46	23548											
LRRC47	57470	broad.mit.edu	37	chr1	3703680	3703680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctccgagccctcggcacgGcccttgcccttcccgccacc	3	8	8	22	4	1	0	0	0	1	0	4	1	2	0	7	2	2	1	7	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703680G>A	ENST00000378251.1	-	2	837	c.810C>T	c.(808-810)ggC>ggT	p.G270G		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	270					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CCTCGGCACGGCCCTTGCCCT	0.657													A	3703680	G	A	3703680	2	1	364	1	0	0	0	0	0	0	0	1	9074	1190	42	2		2	LRRC47	1	3703680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158550	3703680	245546941	47	23549											
LRRC47	57470	broad.mit.edu	37	chr1	3703769	3703769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaccatcttctccaggcGcttgtccctcagcttgttcc	4	13	8	16	1	3	1	1	1	2	0	6	1	5	1	4	1	1	4	4	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3703769G>A	ENST00000378251.1	-	2	748	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C		NM_020710.2	NP_065761.1	Q8N1G4	LRC47_HUMAN	leucine rich repeat containing 47	241					translation		phenylalanine-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	17	all_cancers(77;0.0375)|Ovarian(185;0.0634)|all_lung(157;0.208)|Lung NSC(156;0.21)	all_epithelial(116;1.34e-16)|all_lung(118;2.53e-06)|Lung NSC(185;0.00028)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;5.49e-39)|OV - Ovarian serous cystadenocarcinoma(86;1.43e-22)|GBM - Glioblastoma multiforme(42;3.69e-16)|Colorectal(212;1.21e-05)|COAD - Colon adenocarcinoma(227;5.87e-05)|Kidney(185;0.000367)|BRCA - Breast invasive adenocarcinoma(365;0.000704)|KIRC - Kidney renal clear cell carcinoma(229;0.00567)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		TTCTCCAGGCGCTTGTCCCTC	0.632													A	3703769	G	A	3703769	3	1	364	1	0	0	0	0	1	0	0	0	9074	1087	38	1	1054	1	LRRC47	1	3703769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89	3703769	245546852	48	23550											
DFFB	1677	broad.mit.edu	37	chr1	3782428	3782428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcacgagccacaggtgggGctcatccaggccgcccagca	8	6	12	15	2	2	0	2	0	0	0	3	1	3	0	4	4	2	2	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:3782428G>A	ENST00000378209.3	+	3	617	c.294G>A	c.(292-294)ggG>ggA	p.G98G	DFFB_ENST00000338895.3_Silent_p.G98G	NM_004402.2	NP_004393.1	O76075	DFFB_HUMAN	DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase)	98					apoptotic chromosome condensation|DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction	cytosol|nucleoplasm	deoxyribonuclease activity|enzyme binding			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;2.05e-30)|all_epithelial(116;6.22e-21)|all_lung(118;2.65e-08)|Lung NSC(185;6.25e-06)|Breast(487;0.000659)|Renal(390;0.00121)|all_neural(13;0.0019)|Hepatocellular(190;0.00705)|Colorectal(325;0.0113)|all_hematologic(16;0.0194)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0548)|Medulloblastoma(700;0.211)		Epithelial(90;1.18e-39)|OV - Ovarian serous cystadenocarcinoma(86;7.28e-23)|GBM - Glioblastoma multiforme(42;2.95e-17)|Colorectal(212;1.23e-05)|COAD - Colon adenocarcinoma(227;5.94e-05)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00038)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.124)		CACAGGTGGGGCTCATCCAGG	0.607													A	3782428	G	A	3782428	2	1	364	1	0	0	0	0	0	0	0	1	4492	1190	42	2		2	DFFB	1	3782428	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78659	3782428	245468193	49	23551											
NPHP4	261734	broad.mit.edu	37	chr1	5965469	5965469	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcctcggctggctgtttaTtggcatccagaatctcggga	7	11	12	11	2	1	1	0	0	1	1	4	2	2	2	2	4	1	4	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:5965469T>G	ENST00000378156.4	-	15	2103	c.1838A>C	c.(1837-1839)aAt>aCt	p.N613T	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	613					actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity			NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCTGTTTATTGGCATCCAG	0.547													G	5965469	T	G	5965469	3	3	364	1	0	0	0	0	1	0	0	0	10657	1493	52	5	2506	5	NPHP4	1	5965469	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2183041	5965469	243285152	50	23552											
KCNAB2	8514	broad.mit.edu	37	chr1	6154464	6154464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctctcacgacagagacCgtccgcgccatgacccacgt	8	8	8	17	5	2	2	1	1	1	1	4	4	3	2	4	0	0	0	4	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6154464C>T	ENST00000164247.1	+	11	1071	c.507C>T	c.(505-507)acC>acT	p.T169T	KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000352527.1_Silent_p.T155T|KCNAB2_ENST00000341524.1_Silent_p.T169T|KCNAB2_ENST00000378097.1_Silent_p.T169T|KCNAB2_ENST00000602612.1_Silent_p.T169T|KCNAB2_ENST00000378083.3_Silent_p.T217T|KCNAB2_ENST00000458166.2_Silent_p.T102T|KCNAB2_ENST00000378092.1_Silent_p.T155T|KCNAB2_ENST00000378111.1_Intron	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	169						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CGACAGAGACCGTCCGCGCCA	0.637													T	6154464	C	T	6154464	2	4	364	1	0	0	0	0	0	0	0	1	8068	639	23	1		1	KCNAB2	1	6154464	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188995	6154464	243096157	51	23553											
CHD5	26038	broad.mit.edu	37	chr1	6171834	6171834	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccggcctggccaaggataCgtcacgatgcccgccagcag	8	4	13	16	4	1	0	1	0	0	0	1	2	1	1	5	3	3	1	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6171834C>T	ENST00000262450.3	-	36	5349		c.e36+1		CHD5_ENST00000378021.1_Splice_Site	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5						chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GCCAAGGATACGTCACGATGC	0.647													T	6171834	C	T	6171834	5	4	364	1	0	0	0	0	0	0	1	0	3358	550	19	1	638	1	CHD5	1	6171834	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17370	6171834	243078787	52	23554											
CHD5	26038	broad.mit.edu	37	chr1	6173015	6173015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgtggatcaagctcagCtccagcttgtccaggatctt	7	12	10	12	0	3	0	2	0	1	0	5	2	5	2	2	2	4	4	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6173015C>A	ENST00000262450.3	-	34	5055	c.4956G>T	c.(4954-4956)gaG>gaT	p.E1652D	CHD5_ENST00000378021.1_Missense_Mutation_p.E509D	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	1652					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCAAGCTCAGCTCCAGCTTGT	0.577													A	6173015	C	A	6173015	3	1	364	1	0	0	0	0	1	0	0	0	3358	796	28	4	940	4	CHD5	1	6173015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1181	6173015	243077606	53	23555											
ESPN	83715	broad.mit.edu	37	chr1	6520200	6520200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagggggacatcgctaaGtactagaggccgcagactcc	13	5	13	10	2	0	3	0	0	0	3	2	4	1	4	2	3	1	3	2	3	5	3	rs141783157	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6520200G>T	ENST00000377828.1	+	13	2727	c.2559G>T	c.(2557-2559)aaG>aaT	p.K853N	ESPN_ENST00000461727.1_Missense_Mutation_p.K287N|ESPN_ENST00000416731.1_Missense_Mutation_p.K287N	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	853					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACATCGCTAAGTACTAGAGGC	0.662													T	6520200	G	T	6520200	3	4	364	1	0	0	0	0	1	0	0	0	5295	1020	36	4	2609	4	ESPN	1	6520200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347185	6520200	242730421	54	23556											
PLEKHG5	57449	broad.mit.edu	37	chr1	6532586	6532586	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgcagcccctactcaCgttgatgatcacccgcagtt	9	8	8	16	3	2	2	2	2	0	0	2	2	2	2	4	0	3	4	4	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6532586C>T	ENST00000377748.1	-	11	1809		c.e11+1		PLEKHG5_ENST00000537245.1_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCCCTACTCACGTTGATGATC	0.642													T	6532586	C	T	6532586	5	4	364	1	0	0	0	0	0	0	1	0	12150	550	19	1	1987	1	PLEKHG5	1	6532586	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12386	6532586	242718035	55	23557											
KLHL21	9903	broad.mit.edu	37	chr1	6653596	6653596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggagccgccccaccacGctccacgcgcgagtctctgg	5	6	12	18	5	2	0	0	0	2	0	4	2	3	1	5	2	1	1	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6653596G>A	ENST00000377658.4	-	4	1674	c.1623C>T	c.(1621-1623)agC>agT	p.S541S	KLHL21_ENST00000377663.3_3'UTR|KLHL21_ENST00000467612.1_Silent_p.S174S	NM_014851.2	NP_055666.2	Q9UJP4	KLH21_HUMAN	kelch-like family member 21	541					anaphase|cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|polar microtubule				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(3)|prostate(2)	8	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.4e-05)|Kidney(185;4.95e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000528)|KIRC - Kidney renal clear cell carcinoma(229;0.000927)|STAD - Stomach adenocarcinoma(132;0.0172)|READ - Rectum adenocarcinoma(331;0.0644)		GCCCCACCACGCTCCACGCGC	0.612													A	6653596	G	A	6653596	2	1	364	1	0	0	0	0	0	0	0	1	8434	1078	38	1		1	KLHL21	1	6653596	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121010	6653596	242597025	56	23558											
PHF13	148479	broad.mit.edu	37	chr1	6680296	6680297	+	Frame_Shift_Ins	INS	-	-	A																															cctgatcaggtcaaagaaatINSaaaaactgaaggcaaacgga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6680296_6680297insA	ENST00000377648.4	+	3	957_958	c.575_576insA	c.(574-579)ataaaafs	p.IK192fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	192					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GTCAAAGAAATAAAAACTGAAG	0.554													A	6680297	-	A	6680296	7	5	364	1	0	1	1	0	0	0	0	0	11901	1406	49	0	585	0	PHF13	1	6680296	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	26700	6680296	242570325	57	23559											
PHF13	148479	broad.mit.edu	37	chr1	6681484	6681484	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttccagatgacgattcctgGgacctcgtgacctgcttctg	6	12	10	13	2	1	3	0	2	1	1	4	5	3	4	4	1	1	1	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6681484G>A	ENST00000377648.4	+	4	1072	c.690G>A	c.(688-690)tgG>tgA	p.W230*	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	230					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		ACGATTCCTGGGACCTCGTGA	0.517													A	6681484	G	A	6681484	4	1	364	1	0	0	0	0	0	1	0	0	11901	1241	43	2	704	2	PHF13	1	6681484	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1188	6681484	242569137	58	23560											
DNAJC11	55735	broad.mit.edu	37	chr1	6700036	6700036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaccactagaggccccacGgtggcatagaacatggcgct	11	6	12	12	2	0	3	0	0	0	3	0	3	0	3	3	4	1	2	3	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:6700036G>A	ENST00000377577.5	-	11	1302	c.1179C>T	c.(1177-1179)acC>acT	p.T393T	DNAJC11_ENST00000294401.7_Intron|DNAJC11_ENST00000377573.5_Silent_p.T303T|DNAJC11_ENST00000542246.1_Silent_p.T355T|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	393					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCCCACGGTGGCATAGA	0.512													A	6700036	G	A	6700036	2	1	364	1	0	0	0	0	0	0	0	1	4669	1103	39	1		1	DNAJC11	1	6700036	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18552	6700036	242550585	59	23561											
CAMTA1	23261	broad.mit.edu	37	chr1	7700541	7700541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcggccccatcctctgcTccatcaacaccgacaagaag	10	7	7	17	2	2	1	1	0	1	1	4	2	4	1	5	1	3	1	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7700541T>C	ENST00000303635.7	+	7	799	c.592T>C	c.(592-594)Tcc>Ccc	p.S198P	CAMTA1_ENST00000439411.2_Missense_Mutation_p.S198P	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CATCCTCTGCTCCATCAACAC	0.622			T	WWTR1	epitheliod hemangioendothelioma								C	7700541	T	C	7700541	3	2	364	1	0	0	0	0	1	0	0	0	2639	1551	54	3	618	3	CAMTA1	1	7700541	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1000505	7700541	241550080	60	23562											
CAMTA1	23261	broad.mit.edu	37	chr1	7725163	7725163	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacgtcgccgaggtggtCtcggccgcctcggcccaggg	4	6	16	15	6	1	0	0	0	1	0	4	1	1	0	4	5	1	1	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7725163C>A	ENST00000303635.7	+	9	2763	c.2556C>A	c.(2554-2556)gtC>gtA	p.V852V	CAMTA1_ENST00000439411.2_Silent_p.V852V	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CCGAGGTGGTCTCGGCCGCCT	0.667			T	WWTR1	epitheliod hemangioendothelioma								A	7725163	C	A	7725163	2	1	364	1	0	0	0	0	0	0	0	1	2639	900	32	4		4	CAMTA1	1	7725163	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24622	7725163	241525458	61	23563											
CAMTA1	23261	broad.mit.edu	37	chr1	7811353	7811353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaattccagcagagccgacGggctgctgtgctcatccaaa	12	7	10	12	2	1	1	1	0	0	1	3	2	3	1	3	1	4	4	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7811353G>A	ENST00000303635.7	+	20	4991	c.4784G>A	c.(4783-4785)cGg>cAg	p.R1595Q	CAMTA1_ENST00000439411.2_Missense_Mutation_p.R1581Q|CAMTA1_ENST00000476864.1_Missense_Mutation_p.R159Q	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	1595	IQ 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		CAGAGCCGACGGGCTGCTGTG	0.463			T	WWTR1	epitheliod hemangioendothelioma								A	7811353	G	A	7811353	3	1	364	1	0	0	0	0	1	0	0	0	2639	1116	39	1	4862	1	CAMTA1	1	7811353	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86190	7811353	241439268	62	23564											
PER3	8863	broad.mit.edu	37	chr1	7886619	7886619	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcggaagaatttaaacaCgtggggctcacagcggctgt	11	8	12	10	3	1	1	1	0	0	1	2	2	1	2	1	4	2	2	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7886619C>T	ENST00000377532.3	+	16	2261	c.2037C>T	c.(2035-2037)caC>caT	p.H679H	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.H671H			P56645	PER3_HUMAN	period circadian clock 3	671	CSNK1E binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		AATTTAAACACGTGGGGCTCA	0.512													T	7886619	C	T	7886619	2	4	364	1	0	0	0	0	0	0	0	1	11807	535	19	1		1	PER3	1	7886619	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75266	7886619	241364002	63	23565											
PER3	8863	broad.mit.edu	37	chr1	7887365	7887365	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacacctcgagcccgacCttcccacctgccgccatggt	6	6	8	21	4	0	0	0	0	0	0	2	2	1	0	8	1	2	1	8	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887365C>A	ENST00000377532.3	+	17	2600	c.2376C>A	c.(2374-2376)acC>acA	p.T792T	RP3-467L1.4_ENST00000451646.1_RNA|PER3_ENST00000361923.2_Silent_p.T784T			P56645	PER3_HUMAN	period circadian clock 3	784	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		CGAGCCCGACCTTCCCACCTG	0.701													A	7887365	C	A	7887365	2	1	364	1	0	0	0	0	0	0	0	1	11807	668	24	4		4	PER3	1	7887365	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	746	7887365	241363256	64	23566											
PER3	8863	broad.mit.edu	37	chr1	7887550	7887550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttttccttacttggataCttttatgaccgttttcctgc	5	19	5	12	1	0	1	0	1	0	0	2	2	2	2	4	1	3	1	4	1	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7887550C>A	ENST00000377532.3	+	17	2785	c.2561C>A	c.(2560-2562)aCt>aAt	p.T854N	PER3_ENST00000361923.2_Missense_Mutation_p.T846N			P56645	PER3_HUMAN	period circadian clock 3	846	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TACTTGGATACTTTTATGACC	0.567													A	7887550	C	A	7887550	3	1	364	1	0	0	0	0	1	0	0	0	11807	565	20	4	2603	4	PER3	1	7887550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	7887550	241363071	65	23567											
PER3	8863	broad.mit.edu	37	chr1	7902734	7902734	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttcttttttggaggcCtgtgtcacttgtgaaaatga	7	18	10	6	0	2	2	1	2	1	0	2	3	2	3	1	2	0	1	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:7902734C>A	ENST00000377532.3	+	21	3776	c.3552C>A	c.(3550-3552)gcC>gcA	p.A1184A	PER3_ENST00000361923.2_Silent_p.A1175A			P56645	PER3_HUMAN	period circadian clock 3	1175	CRY binding domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	39	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|all cancers(8;8.58e-70)|GBM - Glioblastoma multiforme(8;1.81e-35)|Colorectal(212;2.06e-07)|COAD - Colon adenocarcinoma(227;1.92e-05)|Kidney(185;7.18e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000472)|STAD - Stomach adenocarcinoma(132;0.00118)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|READ - Rectum adenocarcinoma(331;0.0649)		TTTTGGAGGCCTGTGTCACTT	0.443													A	7902734	C	A	7902734	2	1	364	1	0	0	0	0	0	0	0	1	11807	668	24	4		4	PER3	1	7902734	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15184	7902734	241347887	66	23568											
ERRFI1	54206	broad.mit.edu	37	chr1	8073377	8073377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatataccgcagtcagCaggtaatggctggatttggg	11	10	14	6	1	1	2	1	1	0	1	1	3	1	3	1	4	2	4	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8073377C>T	ENST00000377482.5	-	4	1505	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	ERRFI1_ENST00000474874.1_Intron	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	428					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity	p.A428S(1)		breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CCGCAGTCAGCAGGTAATGGC	0.433													T	8073377	C	T	8073377	3	4	364	1	0	0	0	0	1	0	0	0	5285	710	25	2	110	2	ERRFI1	1	8073377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170643	8073377	241177244	67	23569											
ERRFI1	54206	broad.mit.edu	37	chr1	8074335	8074335	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacatacaacttgatcCtcttcatgtggtcccaagtt	12	12	5	12	0	2	1	1	1	1	0	4	1	4	1	3	1	3	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8074335C>A	ENST00000377482.5	-	4	547	c.324G>T	c.(322-324)gaG>gaT	p.E108D	ERRFI1_ENST00000474874.1_Intron|ERRFI1_ENST00000467067.1_3'UTR|ERRFI1_ENST00000469499.1_3'UTR	NM_018948.3	NP_061821.1	Q9UJM3	ERRFI_HUMAN	ERBB receptor feedback inhibitor 1	108					lung alveolus development|lung epithelium development|lung vasculature development|negative regulation of epidermal growth factor receptor activity|negative regulation of protein autophosphorylation|regulation of keratinocyte differentiation|response to stress|skin morphogenesis	cytoplasm|extrinsic to internal side of plasma membrane|nucleus	protein kinase binding|Rho GTPase activator activity			breast(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(3)|ovary(1)|prostate(1)|skin(2)	16	Ovarian(185;0.06)|all_lung(157;0.151)	all_epithelial(116;1.76e-16)|all_lung(118;3.66e-05)|Lung NSC(185;0.000163)|Renal(390;0.000469)|Colorectal(325;0.0033)|Breast(348;0.0044)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.33e-70)|GBM - Glioblastoma multiforme(8;8.05e-37)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;6.9e-06)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		CAACTTGATCCTCTTCATGTG	0.473													A	8074335	C	A	8074335	3	1	364	1	0	0	0	0	1	0	0	0	5285	680	24	4	1068	4	ERRFI1	1	8074335	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	958	8074335	241176286	68	23570											
SLC45A1	50651	broad.mit.edu	37	chr1	8386014	8386014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggactttagcgccgactcGgcggacaaccccagccacgc	9	5	11	16	5	0	0	0	0	0	0	1	3	0	2	4	3	3	0	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8386014G>A	ENST00000471889.1	+	4	1012	c.627G>A	c.(625-627)tcG>tcA	p.S209S	SLC45A1_ENST00000377479.2_Silent_p.S243S|SLC45A1_ENST00000289877.8_Silent_p.S209S			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	209					carbohydrate transport	integral to membrane	symporter activity	p.S209S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCGCCGACTCGGCGGACAACC	0.657													A	8386014	G	A	8386014	2	1	364	1	0	0	0	0	0	0	0	1	14734	1103	39	1		1	SLC45A1	1	8386014	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311679	8386014	240864607	69	23571											
SLC45A1	50651	broad.mit.edu	37	chr1	8390529	8390529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggccctggcgacagcCtcccgtcgcacacggccacc	8	3	12	18	4	0	0	0	0	0	0	2	2	1	1	5	4	1	1	5	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8390529C>A	ENST00000471889.1	+	5	1361	c.976C>A	c.(976-978)Ctc>Atc	p.L326I	SLC45A1_ENST00000377479.2_Missense_Mutation_p.L360I|SLC45A1_ENST00000289877.8_Missense_Mutation_p.L326I|SLC45A1_ENST00000481265.1_3'UTR			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	326					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGACAGCCTCCCGTCGCA	0.706													A	8390529	C	A	8390529	3	1	364	1	0	0	0	0	1	0	0	0	14734	681	24	4	990	4	SLC45A1	1	8390529	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4515	8390529	240860092	70	23572											
RERE	473	broad.mit.edu	37	chr1	8418647	8418647	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctctcccgcagctcccgCtctcggatctcccgctctcg	3	10	7	21	5	4	0	0	0	4	0	10	1	6	1	4	1	1	4	4	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8418647C>T	ENST00000337907.3	-	21	4582	c.3948G>A	c.(3946-3948)gaG>gaA	p.E1316E	RERE_ENST00000476556.1_Silent_p.E762E|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.E1316E|RERE_ENST00000377464.1_Silent_p.E1048E	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1316	Arg/Glu-rich (mixed charge).				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		GCAGCTCCCGCTCTCGGATCT	0.692													T	8418647	C	T	8418647	2	4	364	1	0	0	0	0	0	0	0	1	13319	796	28	2		2	RERE	1	8418647	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28118	8418647	240831974	71	23573											
RERE	473	broad.mit.edu	37	chr1	8617539	8617539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggaacctcagattgaCggtagtaccatttgacgttc	11	12	9	9	2	2	3	1	2	1	1	3	4	2	4	2	2	2	3	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617539C>T	ENST00000337907.3	-	6	1200	c.566G>A	c.(565-567)cGt>cAt	p.R189H	RERE_ENST00000400907.2_Missense_Mutation_p.R189H|RERE_ENST00000400908.2_Missense_Mutation_p.R189H	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	189	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		CTCAGATTGACGGTAGTACCA	0.403													T	8617539	C	T	8617539	3	4	364	1	0	0	0	0	1	0	0	0	13319	536	19	1	4210	1	RERE	1	8617539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198892	8617539	240633082	72	23574											
RERE	473	broad.mit.edu	37	chr1	8617555	8617555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacggtagtaccatttgaCgttcatgaggagatggtccc	9	12	12	8	2	1	4	1	3	0	1	2	5	2	4	2	3	1	3	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8617555C>T	ENST00000337907.3	-	6	1184	c.550G>A	c.(550-552)Gtc>Atc	p.V184I	RERE_ENST00000400907.2_Missense_Mutation_p.V184I|RERE_ENST00000400908.2_Missense_Mutation_p.V184I	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	184	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TACCATTTGACGTTCATGAGG	0.418													T	8617555	C	T	8617555	3	4	364	1	0	0	0	0	1	0	0	0	13319	536	19	1	4226	1	RERE	1	8617555	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16	8617555	240633066	73	23575											
ENO1	2023	broad.mit.edu	37	chr1	8928048	8928048	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccacctcaggccactcacaTttattttctgttccatccat	8	14	4	15	0	3	0	2	0	1	0	5	0	5	0	5	1	0	1	5	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8928048T>A	ENST00000234590.4	-	5	428	c.309A>T	c.(307-309)aaA>aaT	p.K103N		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	103	Required for repression of c-myc promoter activity.				gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GCCACTCACATTTATTTTCTG	0.458													A	8928048	T	A	8928048	5	1	364	1	0	0	0	0	0	0	1	0	5162	1507	52	5	1027	5	ENO1	1	8928048	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	310493	8928048	240322573	74	23576											
ENO1	2023	broad.mit.edu	37	chr1	8930530	8930530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttgctaaccagggcaggcGcaatagttttattgatgtgc	9	12	11	9	1	0	1	0	1	0	0	0	1	0	1	2	2	3	4	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:8930530G>A	ENST00000234590.4	-	4	340	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001428.3	NP_001419.1	P06733	ENOA_HUMAN	enolase 1, (alpha)	74					gluconeogenesis|glycolysis|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|response to virus	phosphopyruvate hydratase complex|plasma membrane|sarcomere	DNA binding|magnesium ion binding|phosphopyruvate hydratase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	10	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;2.54e-20)|all_lung(118;2.99e-06)|Lung NSC(185;6.25e-06)|Renal(390;0.000147)|Breast(348;0.00086)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.42e-07)|COAD - Colon adenocarcinoma(227;2.78e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CAGGGCAGGCGCAATAGTTTT	0.458													A	8930530	G	A	8930530	3	1	364	1	0	0	0	0	1	0	0	0	5162	1087	38	1	1119	1	ENO1	1	8930530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2482	8930530	240320091	75	23577											
CA6	765	broad.mit.edu	37	chr1	9011536	9011536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccttgtggagaaggggCgaagcacaaaggccaaaggc	12	5	14	10	1	1	1	0	0	1	1	2	3	1	1	2	5	1	1	2	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9011536C>T	ENST00000480186.3	+	3	319	c.314C>T	c.(313-315)gCg>gTg	p.A105V	CA6_ENST00000377442.2_Intron|CA6_ENST00000476083.1_Intron|CA6_ENST00000377436.3_Intron|CA6_ENST00000377443.2_Intron			P23280	CAH6_HUMAN	carbonic anhydrase VI						one-carbon metabolic process	extracellular region	carbonate dehydratase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|skin(5)	16	Ovarian(185;0.112)|all_lung(157;0.143)	all_epithelial(116;1.02e-19)|all_lung(118;3.6e-06)|Lung NSC(185;7.94e-06)|Renal(390;0.000147)|Breast(348;0.00123)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.9e-07)|COAD - Colon adenocarcinoma(227;8.28e-05)|Kidney(185;0.000268)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|STAD - Stomach adenocarcinoma(132;0.00184)|BRCA - Breast invasive adenocarcinoma(304;0.00192)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGAAGGGGCGAAGCACAAA	0.527													T	9011536	C	T	9011536	3	4	364	1	0	0	0	0	1	0	0	0	2547	783	27	1		1	CA6	1	9011536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81006	9011536	240239085	76	23578											
SLC2A7	155184	broad.mit.edu	37	chr1	9083027	9083027	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgaccccaacaggccGcccagaggaaacatggagac	15	2	11	13	1	0	3	0	1	0	2	0	5	0	4	4	3	3	1	4	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9083027G>A	ENST00000400906.1	-	3	260	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	87						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.G87G(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		CCAACAGGCCGCCCAGAGGAA	0.517													A	9083027	G	A	9083027	2	1	364	1	0	0	0	0	0	0	0	1	14644	1074	38	1		1	SLC2A7	1	9083027	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71491	9083027	240167594	77	23579											
H6PD	9563	broad.mit.edu	37	chr1	9305383	9305383	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaggcacagctccagcaCgcaggcctccgggaggctgg	8	4	15	14	3	0	0	0	0	0	0	3	2	2	1	3	5	2	5	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9305383C>T	ENST00000377403.2	+	2	692	c.390C>T	c.(388-390)caC>caT	p.H130H	H6PD_ENST00000602477.1_Silent_p.H141H	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	130	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	AGCTCCAGCACGCAGGCCTCC	0.597													T	9305383	C	T	9305383	2	4	364	1	0	0	0	0	0	0	0	1	6991	535	19	1		1	H6PD	1	9305383	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222356	9305383	239945238	78	23580											
H6PD	9563	broad.mit.edu	37	chr1	9322333	9322333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcttacagtgagcaggtgCgcagagagctgcagaagcca	12	6	14	9	1	1	3	0	1	1	2	1	4	1	3	1	1	6	4	1	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9322333C>T	ENST00000377403.2	+	4	1263	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C	H6PD_ENST00000602477.1_Missense_Mutation_p.R332C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	321	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	TGAGCAGGTGCGCAGAGAGCT	0.677													T	9322333	C	T	9322333	3	4	364	1	0	0	0	0	1	0	0	0	6991	768	27	1	971	1	H6PD	1	9322333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16950	9322333	239928288	79	23581											
H6PD	9563	broad.mit.edu	37	chr1	9323955	9323955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttatcccatatcttccatgGccggaagaatttcttcatca	10	14	5	12	1	4	1	2	0	2	1	6	2	6	2	3	2	0	0	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9323955G>A	ENST00000377403.2	+	5	1705	c.1403G>A	c.(1402-1404)gGc>gAc	p.G468D	H6PD_ENST00000602477.1_Missense_Mutation_p.G479D	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	468	Glucose 1-dehydrogenase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	ATCTTCCATGGCCGGAAGAAT	0.602													A	9323955	G	A	9323955	3	1	364	1	0	0	0	0	1	0	0	0	6991	1203	42	2	1417	2	H6PD	1	9323955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1622	9323955	239926666	80	23582											
H6PD	9563	broad.mit.edu	37	chr1	9324806	9324806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcatgggcaggatgaagCgtgagatcaccacgctggtg	9	8	16	8	2	2	2	2	2	0	1	2	4	2	3	1	4	1	2	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9324806C>T	ENST00000377403.2	+	5	2556	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	H6PD_ENST00000602477.1_Missense_Mutation_p.R763C	NM_001282587.1|NM_004285.3	NP_001269516.1|NP_004276.2	O95479	G6PE_HUMAN	hexose-6-phosphate dehydrogenase (glucose 1-dehydrogenase)	752	6-phosphogluconolactonase.					endoplasmic reticulum lumen	6-phosphogluconolactonase activity|glucose 1-dehydrogenase|glucose-6-phosphate dehydrogenase activity|NADP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23	all_lung(157;0.23)	all_epithelial(116;1.28e-19)|all_lung(118;5.22e-06)|Lung NSC(185;1.98e-05)|Renal(390;0.000147)|Breast(348;0.00109)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.88e-07)|COAD - Colon adenocarcinoma(227;7.47e-05)|Kidney(185;0.000244)|KIRC - Kidney renal clear cell carcinoma(229;0.000905)|STAD - Stomach adenocarcinoma(132;0.00176)|BRCA - Breast invasive adenocarcinoma(304;0.00183)|READ - Rectum adenocarcinoma(331;0.0419)	NADH(DB00157)	CAGGATGAAGCGTGAGATCAC	0.647													T	9324806	C	T	9324806	3	4	364	1	0	0	0	0	1	0	0	0	6991	768	27	1	2268	1	H6PD	1	9324806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	851	9324806	239925815	81	23583											
SLC25A33	84275	broad.mit.edu	37	chr1	9627405	9627405	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtccaaatttggttggAgttgcaccatcaaggtaagc	10	12	12	7	0	1	0	1	0	0	0	2	1	2	1	2	4	2	4	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9627405A>G	ENST00000302692.6	+	3	510	c.300A>G	c.(298-300)ggA>ggG	p.G100G		NM_032315.2	NP_115691.1	Q9BSK2	S2533_HUMAN	solute carrier family 25 (pyrimidine nucleotide carrier), member 33	100					transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|kidney(1)|lung(4)|prostate(1)|skin(1)	9	all_lung(157;0.246)	all_epithelial(116;1.16e-18)|all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Breast(348;0.00191)|Colorectal(325;0.00205)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.44e-05)|Kidney(185;0.000262)|KIRC - Kidney renal clear cell carcinoma(229;0.000957)|BRCA - Breast invasive adenocarcinoma(304;0.0019)|STAD - Stomach adenocarcinoma(132;0.00355)|READ - Rectum adenocarcinoma(331;0.0419)		ATTTGGTTGGAGTTGCACCAT	0.423													G	9627405	A	G	9627405	2	3	364	1	0	0	0	0	0	0	0	1	14591	291	11	3		3	SLC25A33	1	9627405	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	302599	9627405	239623216	82	23584											
PIK3CD	5293	broad.mit.edu	37	chr1	9776516	9776516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggagagcttcaccttccagGtgtccaccaaggacgtgccg	9	7	12	13	2	1	1	1	0	0	1	3	3	3	2	5	3	2	1	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9776516G>T	ENST00000536656.1	+	6	827	c.619G>T	c.(619-621)Gtg>Ttg	p.V207L	PIK3CD_ENST00000377346.4_Missense_Mutation_p.V207L|PIK3CD_ENST00000361110.2_Missense_Mutation_p.V207L			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	207					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CACCTTCCAGGTGTCCACCAA	0.667													T	9776516	G	T	9776516	3	4	364	1	0	0	0	0	1	0	0	0	11992	1261	44	4	633	4	PIK3CD	1	9776516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149111	9776516	239474105	83	23585											
PIK3CD	5293	broad.mit.edu	37	chr1	9783240	9783240	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggcctcattgaggtggtActccgttcagacaccatcgc	9	9	10	13	2	2	2	2	1	0	1	4	2	3	2	3	3	1	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9783240A>G	ENST00000536656.1	+	20	2764	c.2556A>G	c.(2554-2556)gtA>gtG	p.V852V	PIK3CD_ENST00000377346.4_Silent_p.V828V|PIK3CD_ENST00000361110.2_Silent_p.V852V			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	828	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		TTGAGGTGGTACTCCGTTCAG	0.592													G	9783240	A	G	9783240	2	3	364	1	0	0	0	0	0	0	0	1	11992	378	14	3		3	PIK3CD	1	9783240	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6724	9783240	239467381	84	23586											
CLSTN1	22883	broad.mit.edu	37	chr1	9795563	9795563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtctgcgaattccgggCgtggggaactgccgggagtt	6	10	17	8	4	1	1	0	1	1	0	2	4	2	3	2	4	3	1	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9795563C>T	ENST00000377298.4	-	13	2637	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	CLSTN1_ENST00000377288.3_Silent_p.T596T|CLSTN1_ENST00000361311.4_Silent_p.T605T	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	615					homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GAATTCCGGGCGTGGGGAACT	0.502													T	9795563	C	T	9795563	2	4	364	1	0	0	0	0	0	0	0	1	3592	755	27	1		1	CLSTN1	1	9795563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12323	9795563	239455058	85	23587											
CLSTN1	22883	broad.mit.edu	37	chr1	9815238	9815238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataggcctggatggtgaatGaatagtctttctgcagctca	10	12	11	8	0	3	2	1	2	2	0	3	3	3	3	1	3	2	2	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:9815238G>A	ENST00000377298.4	-	4	1166	c.374C>T	c.(373-375)tCa>tTa	p.S125L	CLSTN1_ENST00000377288.3_Missense_Mutation_p.S125L|CLSTN1_ENST00000361311.4_Missense_Mutation_p.S115L	NM_001009566.1	NP_001009566.1	O94985	CSTN1_HUMAN	calsyntenin 1	125	Cadherin 1.				homophilic cell adhesion	cell junction|cell projection|endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus|postsynaptic membrane	calcium ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(9)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	36	all_lung(157;0.222)	all_lung(284;4.03e-05)|Lung NSC(185;6.93e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;8.36e-08)|COAD - Colon adenocarcinoma(227;1.93e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00122)|STAD - Stomach adenocarcinoma(132;0.00644)|READ - Rectum adenocarcinoma(331;0.0419)		GATGGTGAATGAATAGTCTTT	0.463													A	9815238	G	A	9815238	3	1	364	1	0	0	0	0	1	0	0	0	3592	1294	45	2	2635	2	CLSTN1	1	9815238	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19675	9815238	239435383	86	23588											
UBE4B	10277	broad.mit.edu	37	chr1	10195195	10195195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttcccaatgatgagacGcgtgtgaatgcaacgatgga	12	9	11	9	3	1	3	0	3	1	1	2	6	2	4	1	1	2	1	1	1	3	1	rs146689339		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10195195G>A	ENST00000377157.3	+	15	2501	c.1440G>A	c.(1438-1440)acG>acA	p.T480T	UBE4B_ENST00000343090.6_Silent_p.T725T|UBE4B_ENST00000253251.8_Silent_p.T596T	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	725					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		ATGATGAGACGCGTGTGAATG	0.443													A	10195195	G	A	10195195	2	1	364	1	0	0	0	0	0	0	0	1	16985	1074	38	1		1	UBE4B	1	10195195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	379957	10195195	239055426	87	23589											
KIF1B	23095	broad.mit.edu	37	chr1	10364195	10364195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatcataacagaagatgaGgttatagagcttaggattcc	15	11	9	6	0	2	4	2	1	0	3	3	5	3	5	1	2	2	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10364195G>T	ENST00000377093.4	+	21	3105	c.2952G>T	c.(2950-2952)gaG>gaT	p.E984D	KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.E984D|KIF1B_ENST00000377086.1_Intron|KIF1B_ENST00000263934.6_Intron	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN	kinesin family member 1B	0					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		CAGAAGATGAGGTTATAGAGC	0.458													T	10364195	G	T	10364195	3	4	364	1	0	0	0	0	1	0	0	0	8342	991	35	4	3030	4	KIF1B	1	10364195	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169000	10364195	238886426	88	23590											
CORT	1325	broad.mit.edu	37	chr1	10510198	10510198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctccaaagaagagacccAagtccccaaaacattgattt	17	7	6	11	0	0	3	0	1	0	2	2	4	2	3	4	0	2	1	4	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10510198A>G	ENST00000320498.4	+	1	228	c.68A>G	c.(67-69)cAa>cGa	p.Q23R	APITD1-CORT_ENST00000470413.2_Intron|APITD1_ENST00000602296.1_Intron|APITD1-CORT_ENST00000465026.1_Intron|APITD1_ENST00000602787.1_Intron|APITD1-CORT_ENST00000400900.2_Intron|CORT_ENST00000377049.3_5'UTR					cortistatin											breast(1)|endometrium(1)|stomach(1)	3	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.12e-07)|COAD - Colon adenocarcinoma(227;7.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0487)		GAAGAGACCCAAGTCCCCAAA	0.527													G	10510198	A	G	10510198	3	3	364	1	0	0	0	0	1	0	0	0	3791	130	5	3	70	3	CORT	1	10510198	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	146003	10510198	238740423	89	23591											
DFFA	1676	broad.mit.edu	37	chr1	10521672	10521672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcgcagggcgagctcccGctcacaggcctcctgaacag	8	4	13	16	3	1	1	1	1	0	0	3	2	3	1	3	3	2	3	3	3	1	0	rs17856222		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10521672G>A	ENST00000377038.3	-	6	938	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	291				R -> W (in Ref. 7; AAH07721).	DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCGAGCTCCCGCTCACAGGCC	0.562													A	10521672	G	A	10521672	3	1	364	1	0	0	0	0	1	0	0	0	4491	1086	38	1	128	1	DFFA	1	10521672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11474	10521672	238728949	90	23592											
CASZ1	54897	broad.mit.edu	37	chr1	10699521	10699521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcttgtgcgagtccatctgCgacatgcccaccaccgtgtg	6	9	11	15	4	1	0	0	0	1	0	2	2	2	0	4	0	3	1	4	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10699521C>T	ENST00000377022.3	-	21	5075	c.4758G>A	c.(4756-4758)tcG>tcA	p.S1586S	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1586					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGTCCATCTGCGACATGCCCA	0.701													T	10699521	C	T	10699521	2	4	364	1	0	0	0	0	0	0	0	1	2711	755	27	1		1	CASZ1	1	10699521	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177849	10699521	238551100	91	23593											
CASZ1	54897	broad.mit.edu	37	chr1	10706199	10706199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctggttgggacagaGacactgcagagagtagtatg	11	8	15	7	0	0	3	0	1	0	2	0	6	0	4	1	2	1	5	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10706199G>T	ENST00000377022.3	-	17	3999	c.3682C>A	c.(3682-3684)Ctc>Atc	p.L1228I	RP4-734G22.3_ENST00000606802.1_RNA	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	1228					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		TTGGGACAGAGACACTGCAGA	0.602													T	10706199	G	T	10706199	3	4	364	1	0	0	0	0	1	0	0	0	2711	942	33	4	1617	4	CASZ1	1	10706199	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6678	10706199	238544422	92	23594											
CASZ1	54897	broad.mit.edu	37	chr1	10714227	10714227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgtggtagctcttgtgCttctcgatgtcacacttgtt	5	18	10	8	1	3	1	1	1	2	0	4	2	3	1	0	1	2	4	0	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10714227C>A	ENST00000377022.3	-	11	2204	c.1887G>T	c.(1885-1887)aaG>aaT	p.K629N	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Missense_Mutation_p.K629N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		AGCTCTTGTGCTTCTCGATGT	0.557													A	10714227	C	A	10714227	3	1	364	1	0	0	0	0	1	0	0	0	2711	796	28	4	3440	4	CASZ1	1	10714227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8028	10714227	238536394	93	23595											
CASZ1	54897	broad.mit.edu	37	chr1	10715763	10715763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagccgtggtagtagacGctgcagtcgtccagcgggct	6	8	16	11	4	0	1	0	0	0	1	2	1	1	1	2	3	3	6	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10715763G>A	ENST00000377022.3	-	9	1925	c.1608C>T	c.(1606-1608)agC>agT	p.S536S	CASZ1_ENST00000344008.5_Silent_p.S536S	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	p.S536S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGTAGTAGACGCTGCAGTCGT	0.622													A	10715763	G	A	10715763	2	1	364	1	0	0	0	0	0	0	0	1	2711	1078	38	1		1	CASZ1	1	10715763	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1536	10715763	238534858	94	23596											
CASZ1	54897	broad.mit.edu	37	chr1	10720038	10720038	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccatgtcggggctgcccTccccgggtttgaagaggtgc	4	8	15	14	3	0	2	0	1	0	1	2	2	1	2	4	4	2	2	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:10720038T>C	ENST00000377022.3	-	6	1378	c.1061A>G	c.(1060-1062)gAg>gGg	p.E354G	CASZ1_ENST00000344008.5_Missense_Mutation_p.E354G	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		GGGGCTGCCCTCCCCGGGTTT	0.642													C	10720038	T	C	10720038	3	2	364	1	0	0	0	0	1	0	0	0	2711	1551	54	3	4286	3	CASZ1	1	10720038	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4275	10720038	238530583	95	23597											
C1orf127	148345	broad.mit.edu	37	chr1	11018798	11018798	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgtccctccacaggggcagGggccgggagacctgcagaga	8	5	16	12	1	0	2	0	0	0	2	2	4	2	2	4	5	1	2	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11018798G>T	ENST00000377004.4	-	6	527	c.528C>A	c.(526-528)ccC>ccA	p.P176P	C1orf127_ENST00000377008.4_Silent_p.P27P	NM_001170754.1	NP_001164225.1	B7ZLG7	B7ZLG7_HUMAN	chromosome 1 open reading frame 127	27										NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(5)	32	Ovarian(185;0.249)	Lung NSC(185;0.000226)|all_lung(284;0.000302)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.71e-07)|COAD - Colon adenocarcinoma(227;7.79e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000305)|Kidney(185;0.000785)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|READ - Rectum adenocarcinoma(331;0.0509)		ACAGGGGCAGGGGCCGGGAGA	0.572													T	11018798	G	T	11018798	2	4	364	1	0	0	0	0	0	0	0	1	2014	1219	43	4		4	C1orf127	1	11018798	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	298760	11018798	238231823	96	23598											
SRM	6723	broad.mit.edu	37	chr1	11119373	11119373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcactggatgacaccgTccaacaccagcacgttgcca	10	6	9	16	3	0	1	0	1	0	0	1	2	1	2	5	1	4	3	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11119373T>A	ENST00000376957.2	-	2	277	c.197A>T	c.(196-198)gAc>gTc	p.D66V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	66					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	GATGACACCGTCCAACACCAG	0.622													A	11119373	T	A	11119373	3	1	364	1	0	0	0	0	1	0	0	0	15247	1667	58	5	739	5	SRM	1	11119373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100575	11119373	238131248	97	23599											
MTOR	2475	broad.mit.edu	37	chr1	11182139	11182139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggaacccagccaatgAggcccgagttggtcgataaa	12	6	14	9	2	0	1	0	1	0	0	1	4	0	2	3	4	2	1	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11182139A>T	ENST00000361445.4	-	48	6783	c.6707T>A	c.(6706-6708)cTc>cAc	p.L2236H	MTOR_ENST00000376838.1_Missense_Mutation_p.L441H	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2236	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CCAGCCAATGAGGCCCGAGTT	0.532													T	11182139	A	T	11182139	3	4	364	1	0	0	0	0	1	0	0	0	10030	304	11	5	986	5	MTOR	1	11182139	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62766	11182139	238068482	98	23600											
MTOR	2475	broad.mit.edu	37	chr1	11205086	11205086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagcatccagcaggtccCtggccttgtcaatgcactag	9	10	9	13	0	2	0	2	0	0	0	4	0	4	0	3	2	3	3	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11205086C>A	ENST00000361445.4	-	33	4779	c.4703G>T	c.(4702-4704)aGg>aTg	p.R1568M	MTOR-AS1_ENST00000445982.1_RNA|MTOR-AS1_ENST00000420480.1_RNA	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	1568	FAT.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAGCAGGTCCCTGGCCTTGTC	0.488													A	11205086	C	A	11205086	3	1	364	1	0	0	0	0	1	0	0	0	10030	681	24	4	3050	4	MTOR	1	11205086	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22947	11205086	238045535	99	23601											
ANGPTL7	10218	broad.mit.edu	37	chr1	11249979	11249979	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattgacatcatgcagctgCaggcagcacagacggtcact	13	7	10	11	1	2	2	2	1	0	1	2	2	2	2	0	2	4	5	0	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11249979C>T	ENST00000376819.3	+	1	582	c.343C>T	c.(343-345)Cag>Tag	p.Q115*	MTOR_ENST00000361445.4_Intron	NM_021146.2	NP_066969.1	O43827	ANGL7_HUMAN	angiopoietin-like 7	115					response to oxidative stress|signal transduction	extracellular region	receptor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.39e-06)|COAD - Colon adenocarcinoma(227;0.000244)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0487)		CATGCAGCTGCAGGCAGCACA	0.562													T	11249979	C	T	11249979	4	4	364	1	0	0	0	0	0	1	0	0	619	711	25	2	345	2	ANGPTL7	1	11249979	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44893	11249979	238000642	100	23602											
UBIAD1	29914	broad.mit.edu	37	chr1	11333834	11333834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacggtgtcctggatcccagGctcttggtgggttgtgccgt	3	12	15	11	2	1	0	0	0	1	0	3	1	3	1	3	5	1	2	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11333834G>A	ENST00000376810.5	+	1	572	c.246G>A	c.(244-246)agG>agA	p.R82R	UBIAD1_ENST00000376804.2_Silent_p.R82R	NM_013319.2	NP_037451.1	Q9Y5Z9	UBIA1_HUMAN	UbiA prenyltransferase domain containing 1	82					menaquinone biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrion|nucleus	prenyltransferase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(3)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000818)|all_lung(284;0.00105)|Colorectal(325;0.0062)|Breast(348;0.012)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;1.52e-06)|COAD - Colon adenocarcinoma(227;0.000254)|BRCA - Breast invasive adenocarcinoma(304;0.000299)|Kidney(185;0.000754)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0487)		TGGATCCCAGGCTCTTGGTGG	0.587													A	11333834	G	A	11333834	2	1	364	1	0	0	0	0	0	0	0	1	16987	1194	42	2		2	UBIAD1	1	11333834	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83855	11333834	237916787	101	23603											
PTCHD2	57540	broad.mit.edu	37	chr1	11575545	11575545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatggggtggccgccttcGtgatcgtgggcattggtgag	5	11	18	7	3	0	3	0	3	0	0	2	3	0	3	2	5	0	1	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11575545G>A	ENST00000294484.6	+	5	1711	c.1573G>A	c.(1573-1575)Gtg>Atg	p.V525M	PTCHD2_ENST00000389575.3_Missense_Mutation_p.V525M	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	525	SSD.				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-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)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		GGCCGCCTTCGTGATCGTGGG	0.587													A	11575545	G	A	11575545	3	1	364	1	0	0	0	0	1	0	0	0	12818	1145	40	1	1587	1	PTCHD2	1	11575545	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241711	11575545	237675076	102	23604											
FBXO44	93611	broad.mit.edu	37	chr1	11715984	11715984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgctgctgaactgccGcctggtctgcagcctctggc	4	9	12	16	1	2	1	0	1	2	0	2	1	2	1	4	2	7	4	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11715984G>A	ENST00000376770.1	+	3	590	c.92G>A	c.(91-93)cGc>cAc	p.R31H	FBXO44_ENST00000376760.1_Missense_Mutation_p.R31H|FBXO44_ENST00000376762.4_Missense_Mutation_p.R31H|FBXO44_ENST00000251547.5_Missense_Mutation_p.R31H|FBXO44_ENST00000376768.1_Missense_Mutation_p.R31H|FBXO44_ENST00000251546.4_Missense_Mutation_p.R31H	NM_001014765.1	NP_001014765.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	31	F-box.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-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)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAACTGCCGCCTGGTCTGC	0.642													A	11715984	G	A	11715984	3	1	364	1	0	0	0	0	1	0	0	0	5802	1087	38	1	94	1	FBXO44	1	11715984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140439	11715984	237534637	103	23605											
FBXO44	93611	broad.mit.edu	37	chr1	11718910	11718910	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaccatccagcagaagagCgatgccaagtggagggaggt	12	4	16	9	2	0	2	0	0	0	2	1	6	1	4	3	3	3	1	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11718910C>T	ENST00000251546.4	+	4	718	c.481C>T	c.(481-483)Cga>Tga	p.R161*	FBXO44_ENST00000376760.1_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376762.4_Nonsense_Mutation_p.R161*|FBXO44_ENST00000376770.1_Silent_p.S202S|FBXO44_ENST00000251547.5_Silent_p.S202S|FBXO44_ENST00000376768.1_Nonsense_Mutation_p.R193*	NM_183412.2	NP_904319.1	Q9H4M3	FBX44_HUMAN	F-box protein 44	0	FBA.				protein catabolic process	SCF ubiquitin ligase complex	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	8	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-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)|Colorectal(212;5.41e-06)|COAD - Colon adenocarcinoma(227;0.000255)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000758)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGAAGAGCGATGCCAAGT	0.657													T	11718910	C	T	11718910	4	4	364	1	0	0	0	0	0	1	0	0	5802	769	27	1	620	1	FBXO44	1	11718910	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2926	11718910	237531711	104	23606											
FBXO6	26270	broad.mit.edu	37	chr1	11733671	11733671	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccttcctcccaacaGgtctcctacaccttctcaga	7	11	3	20	0	3	1	1	0	3	1	8	1	5	1	6	1	2	0	6	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733671G>T	ENST00000376753.4	+	6	780		c.e6-1			NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6						DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-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)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCTCCCAACAGGTCTCCTACA	0.642													T	11733671	G	T	11733671	5	4	364	1	0	0	0	0	0	0	1	0	5808	1014	35	4	663	4	FBXO6	1	11733671	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14761	11733671	237516950	105	23607											
FBXO6	26270	broad.mit.edu	37	chr1	11733805	11733805	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcattgtcgtcagccccaAgatgaccaggaaccaggcct	11	6	10	14	1	1	2	1	1	0	1	2	3	1	3	5	2	3	1	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11733805A>C	ENST00000376753.4	+	6	914	c.779A>C	c.(778-780)aAg>aCg	p.K260T		NM_018438.5	NP_060908.1	Q9NRD1	FBX6_HUMAN	F-box protein 6	260					DNA damage checkpoint|DNA repair|ER-associated protein catabolic process|response to unfolded protein|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	glycoprotein binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	6	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-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)|Colorectal(212;5.25e-06)|COAD - Colon adenocarcinoma(227;0.000251)|BRCA - Breast invasive adenocarcinoma(304;0.000297)|Kidney(185;0.000747)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		GTCAGCCCCAAGATGACCAGG	0.617													C	11733805	A	C	11733805	3	2	364	1	0	0	0	0	1	0	0	0	5808	72	3	5	797	5	FBXO6	1	11733805	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	134	11733805	237516816	106	23608											
MTHFR	4524	broad.mit.edu	37	chr1	11850928	11850928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatacagctttccccaccGctcaatccacagggcaaagg	11	7	7	16	1	2	0	2	0	0	0	4	0	4	0	4	2	2	3	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11850928G>A	ENST00000376592.1	-	11	1908	c.1780C>T	c.(1780-1782)Cgg>Tgg	p.R594W	MTHFR_ENST00000376585.1_Missense_Mutation_p.R635W|MTHFR_ENST00000376583.3_Missense_Mutation_p.R635W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R594W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	594			R -> Q (in dbSNP:rs2274976).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TTTCCCCACCGCTCAATCCAC	0.557													A	11850928	G	A	11850928	3	1	364	1	0	0	0	0	1	0	0	0	10007	1086	38	1	194	1	MTHFR	1	11850928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117123	11850928	237399693	107	23609											
MTHFR	4524	broad.mit.edu	37	chr1	11854129	11854129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgccaggggctcatcgttCcagggcaggcaagtcacctg	7	6	14	14	2	2	0	2	0	0	0	4	0	3	0	4	4	0	4	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854129C>A	ENST00000376592.1	-	8	1493	c.1365G>T	c.(1363-1365)tgG>tgT	p.W455C	MTHFR_ENST00000376585.1_Missense_Mutation_p.W496C|MTHFR_ENST00000376583.3_Missense_Mutation_p.W496C|MTHFR_ENST00000376590.3_Missense_Mutation_p.W455C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	455					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCTCATCGTTCCAGGGCAGGC	0.637													A	11854129	C	A	11854129	3	1	364	1	0	0	0	0	1	0	0	0	10007	856	30	4	621	4	MTHFR	1	11854129	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3201	11854129	237396492	108	23610											
MTHFR	4524	broad.mit.edu	37	chr1	11854429	11854429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcactttgtgaccattccGgtttggttctcccgagaggt	6	14	10	11	2	2	2	1	1	1	1	4	3	3	2	3	3	0	2	3	3	0	4	rs138469955		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11854429G>A	ENST00000376592.1	-	7	1461	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W	MTHFR_ENST00000376585.1_Missense_Mutation_p.R486W|MTHFR_ENST00000376583.3_Missense_Mutation_p.R486W|MTHFR_ENST00000376590.3_Missense_Mutation_p.R445W			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	445					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	TGACCATTCCGGTTTGGTTCT	0.587													A	11854429	G	A	11854429	3	1	364	1	0	0	0	0	1	0	0	0	10007	1115	39	1	657	1	MTHFR	1	11854429	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	11854429	237396192	109	23611											
MTHFR	4524	broad.mit.edu	37	chr1	11856453	11856453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcggggtggcctttggggTaacctgccaatagggatgac	7	10	15	9	1	0	1	0	1	0	0	1	2	0	2	3	6	2	1	3	6	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11856453T>C	ENST00000376592.1	-	4	718	c.590A>G	c.(589-591)tAc>tGc	p.Y197C	MTHFR_ENST00000376585.1_Missense_Mutation_p.Y238C|MTHFR_ENST00000376583.3_Missense_Mutation_p.Y238C|MTHFR_ENST00000376590.3_Missense_Mutation_p.Y197C			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	197					blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GCCTTTGGGGTAACCTGCCAA	0.572													C	11856453	T	C	11856453	3	2	364	1	0	0	0	0	1	0	0	0	10007	1638	57	3	1412	3	MTHFR	1	11856453	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2024	11856453	237394168	110	23612											
MTHFR	4524	broad.mit.edu	37	chr1	11863020	11863020	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcaccagattccaatcGccgcctcatcttctcccgga	7	11	6	17	3	4	1	2	0	2	1	7	2	5	2	5	1	0	0	5	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11863020G>A	ENST00000376592.1	-	1	282	c.154C>T	c.(154-156)Cga>Tga	p.R52*	MTHFR_ENST00000376585.1_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376583.3_Nonsense_Mutation_p.R93*|MTHFR_ENST00000376590.3_Nonsense_Mutation_p.R52*			P42898	MTHR_HUMAN	methylenetetrahydrofolate reductase (NAD(P)H)	52			R -> Q (in MTHFRD).		blood circulation|folic acid metabolic process	cytosol	methylenetetrahydrofolate reductase (NADPH) activity|protein binding			NS(4)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)	Benazepril(DB00542)|Cyanocobalamin(DB00115)|Folic Acid(DB00158)|L-Methionine(DB00134)|Menadione(DB00170)|Methotrexate(DB00563)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|Raltitrexed(DB00293)|Riboflavin(DB00140)|S-Adenosylmethionine(DB00118)|Tetrahydrofolic acid(DB00116)	GATTCCAATCGCCGCCTCATC	0.552													A	11863020	G	A	11863020	4	1	364	1	0	0	0	0	0	1	0	0	10007	1095	38	1	1860	1	MTHFR	1	11863020	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6567	11863020	237387601	111	23613											
CLCN6	1185	broad.mit.edu	37	chr1	11888655	11888655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagtaccgtatgcgaaaCgtgcacccgaaacctaagct	14	6	9	12	4	0	0	0	0	0	0	0	2	0	0	3	0	6	5	3	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11888655C>T	ENST00000346436.6	+	12	1147	c.1095C>T	c.(1093-1095)aaC>aaT	p.N365N	CLCN6_ENST00000312413.6_Intron|CLCN6_ENST00000376492.3_Intron|CLCN6_ENST00000376487.3_Silent_p.N343N|CLCN6_ENST00000376496.3_Silent_p.N365N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	365					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		GTATGCGAAACGTGCACCCGA	0.597													T	11888655	C	T	11888655	2	4	364	1	0	0	0	0	0	0	0	1	3498	535	19	1		1	CLCN6	1	11888655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25635	11888655	237361966	112	23614											
CLCN6	1185	broad.mit.edu	37	chr1	11898641	11898641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcaccgtctcgcccaacaCccacgtctcccaagtcttca	8	10	4	19	3	5	0	2	0	3	0	7	0	5	0	4	0	1	0	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11898641C>A	ENST00000346436.6	+	22	2505	c.2453C>A	c.(2452-2454)aCc>aAc	p.T818N	CLCN6_ENST00000312413.6_3'UTR|CLCN6_ENST00000376487.3_Missense_Mutation_p.T796N|CLCN6_ENST00000376496.3_Missense_Mutation_p.T818N	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	818	CBS 2.				cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TCGCCCAACACCCACGTCTCC	0.617											OREG0013104	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	11898641	C	A	11898641	3	1	364	1	0	0	0	0	1	0	0	0	3498	507	18	4	2549	4	CLCN6	1	11898641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9986	11898641	237351980	113	23615											
KIAA2013	90231	broad.mit.edu	37	chr1	11983089	11983089	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccctcggcatccgccagCacggccaggttgatatggtc	6	9	12	14	3	0	1	0	1	0	0	3	1	1	1	4	4	2	3	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983089C>T	ENST00000376572.3	-	2	1676	c.1491G>A	c.(1489-1491)gtG>gtA	p.V497V	KIAA2013_ENST00000376576.3_Silent_p.V497V	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	497						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CATCCGCCAGCACGGCCAGGT	0.612													T	11983089	C	T	11983089	2	4	364	1	0	0	0	0	0	0	0	1	8325	697	25	2		2	KIAA2013	1	11983089	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84448	11983089	237267532	114	23616											
KIAA2013	90231	broad.mit.edu	37	chr1	11983416	11983416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgagcgtcgactccatctgGtctcgctccctgtggctcag	4	12	11	14	3	3	1	1	1	2	0	7	2	5	1	2	2	1	2	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:11983416G>T	ENST00000376572.3	-	2	1349	c.1164C>A	c.(1162-1164)gaC>gaA	p.D388E	KIAA2013_ENST00000376576.3_Missense_Mutation_p.D388E	NM_138346.2	NP_612355.1	Q8IYS2	K2013_HUMAN	KIAA2013	388						integral to membrane				endometrium(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00149)|all_lung(284;0.00189)|Breast(348;0.00586)|Colorectal(325;0.0062)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0556)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.88e-06)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|Kidney(185;0.000722)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCCATCTGGTCTCGCTCCC	0.642													T	11983416	G	T	11983416	3	4	364	1	0	0	0	0	1	0	0	0	8325	1252	44	4	748	4	KIAA2013	1	11983416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	11983416	237267205	115	23617											
PLOD1	5351	broad.mit.edu	37	chr1	12017043	12017043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctatgacaccctcccggTcctgatccatggcaacgggc	7	7	11	16	2	0	2	0	2	0	0	3	2	3	2	5	4	1	1	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12017043T>C	ENST00000196061.4	+	7	740	c.713T>C	c.(712-714)gTc>gCc	p.V238A	PLOD1_ENST00000485046.1_3'UTR|PLOD1_ENST00000376369.3_Missense_Mutation_p.V285A	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	238					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCTCCCGGTCCTGATCCAT	0.607													C	12017043	T	C	12017043	3	2	364	1	0	0	0	0	1	0	0	0	12178	1667	58	3	739	3	PLOD1	1	12017043	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33627	12017043	237233578	116	23618											
PLOD1	5351	broad.mit.edu	37	chr1	12025566	12025566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcctgaccaaccggcaCacccttggccatctgctctc	7	10	7	17	1	2	1	0	1	2	0	4	1	3	1	5	2	2	3	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12025566C>T	ENST00000196061.4	+	14	1527	c.1500C>T	c.(1498-1500)caC>caT	p.H500H	PLOD1_ENST00000376369.3_Silent_p.H547H	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	500					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCAACCGGCACACCCTTGGCC	0.667													T	12025566	C	T	12025566	2	4	364	1	0	0	0	0	0	0	0	1	12178	477	17	2		2	PLOD1	1	12025566	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8523	12025566	237225055	117	23619											
PLOD1	5351	broad.mit.edu	37	chr1	12034842	12034842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggcacccgctacatcGcagtctccttcgtcgatccc	6	8	9	18	4	1	0	0	0	1	0	6	1	2	0	4	2	1	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12034842G>A	ENST00000196061.4	+	19	2188	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	PLOD1_ENST00000376369.3_Missense_Mutation_p.A768T	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	721	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGCTACATCGCAGTCTCCTT	0.622													A	12034842	G	A	12034842	3	1	364	1	0	0	0	0	1	0	0	0	12178	1087	38	1	2235	1	PLOD1	1	12034842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9276	12034842	237215779	118	23620											
MFN2	9927	broad.mit.edu	37	chr1	12056244	12056244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagcaccgtgatcaatGccatgctctgggacaaagtt	12	8	12	9	1	2	2	1	1	1	1	2	4	2	4	2	2	3	3	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12056244G>A	ENST00000235329.5	+	5	665	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	MFN2_ENST00000444836.1_Missense_Mutation_p.A115T	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	115					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		CGTGATCAATGCCATGCTCTG	0.517													A	12056244	G	A	12056244	3	1	364	1	0	0	0	0	1	0	0	0	9599	1319	46	2	353	2	MFN2	1	12056244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21402	12056244	237194377	119	23621											
TNFRSF8	943	broad.mit.edu	37	chr1	12170199	12170199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgcccaggaagctgCttctaaactgacgagggctc	8	7	11	15	3	1	1	0	1	1	0	3	3	1	2	3	2	3	3	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12170199C>T	ENST00000263932.2	+	6	836	c.614C>T	c.(613-615)gCt>gTt	p.A205V	TNFRSF8_ENST00000417814.2_Missense_Mutation_p.A94V	NM_001243.3|NM_001281430.1	NP_001234.2|NP_001268359.1	P28908	TNR8_HUMAN	tumor necrosis factor receptor superfamily, member 8	205					cellular response to mechanical stimulus|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of TRAIL biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;8.71e-05)|all_lung(284;9.89e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.66e-06)|COAD - Colon adenocarcinoma(227;0.000261)|BRCA - Breast invasive adenocarcinoma(304;0.000304)|Kidney(185;0.000777)|KIRC - Kidney renal clear cell carcinoma(229;0.00261)|STAD - Stomach adenocarcinoma(313;0.0073)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGAAGCTGCTTCTAAACTG	0.637													T	12170199	C	T	12170199	3	4	364	1	0	0	0	0	1	0	0	0	16399	797	28	2	636	2	TNFRSF8	1	12170199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113955	12170199	237080422	120	23622											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12248851	12248851	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttcccttcttccttccAggtggcatttacaccctacg	6	14	6	15	1	2	0	0	0	2	0	5	0	5	0	4	2	2	1	4	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12248851A>G	ENST00000376259.3	+	2	167		c.e2-1		TNFRSF1B_ENST00000536782.1_Splice_Site|TNFRSF1B_ENST00000492361.1_Intron	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B						apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	TCTTCCTTCCAGGTGGCATTT	0.617													G	12248851	A	G	12248851	5	3	364	1	0	0	0	0	0	0	1	0	16394	202	7	3	83	3	TNFRSF1B	1	12248851	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	78652	12248851	237001770	121	23623											
TNFRSF1B	7133	broad.mit.edu	37	chr1	12262066	12262066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggggtacacagggccccGagcagcagcacctgctgatc	8	4	13	16	2	0	1	0	1	0	0	1	2	0	1	4	3	5	5	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12262066G>A	ENST00000376259.3	+	9	1032	c.943G>A	c.(943-945)Gag>Aag	p.E315K	TNFRSF1B_ENST00000492361.1_3'UTR	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	315					apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)|Infliximab(DB00065)	ACAGGGCCCCGAGCAGCAGCA	0.667													A	12262066	G	A	12262066	3	1	364	1	0	0	0	0	1	0	0	0	16394	1059	37	1	977	1	TNFRSF1B	1	12262066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13215	12262066	236988555	122	23624											
VPS13D	55187	broad.mit.edu	37	chr1	12343686	12343686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccactgcagacaaccacGcaatgaggctgcctcctgag	10	6	10	15	1	0	3	0	2	0	1	2	3	2	3	4	1	3	4	4	1	2	0	rs149109225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12343686G>A	ENST00000358136.3	+	21	5657	c.5527G>A	c.(5527-5529)Gca>Aca	p.A1843T	VPS13D_ENST00000356315.4_Missense_Mutation_p.A1843T	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	1843					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGACAACCACGCAATGAGGCT	0.483													A	12343686	G	A	12343686	3	1	364	1	0	0	0	0	1	0	0	0	17294	1087	38	1	5605	1	VPS13D	1	12343686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81620	12343686	236906935	123	23625											
VPS13D	55187	broad.mit.edu	37	chr1	12353762	12353762	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctattgaggggcagacgGtaggtagcctgggccctcca	7	8	15	11	1	0	2	0	1	0	1	1	2	1	2	3	5	2	4	3	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12353762G>A	ENST00000358136.3	+	24	6163		c.e24+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GGGGCAGACGGTAGGTAGCCT	0.512													A	12353762	G	A	12353762	5	1	364	1	0	0	0	0	0	0	1	0	17294	1275	44	2	6124	2	VPS13D	1	12353762	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10076	12353762	236896859	124	23626											
VPS13D	55187	broad.mit.edu	37	chr1	12359362	12359362	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagatcaaataatctgattgTagcaaatttggggaagttga	15	12	10	4	0	2	3	1	2	1	1	2	4	2	4	0	2	1	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12359362T>C	ENST00000358136.3	+	25	6267	c.6137T>C	c.(6136-6138)gTa>gCa	p.V2046A	VPS13D_ENST00000356315.4_Missense_Mutation_p.V2046A	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2046					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AATCTGATTGTAGCAAATTTG	0.433													C	12359362	T	C	12359362	3	2	364	1	0	0	0	0	1	0	0	0	17294	1638	57	3	6231	3	VPS13D	1	12359362	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5600	12359362	236891259	125	23627											
VPS13D	55187	broad.mit.edu	37	chr1	12368699	12368699	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaaggaatttggacaaGtgagtgtttttttttttttt	9	20	11	1	0	0	1	0	1	0	0	0	4	0	4	0	3	0	1	0	3	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12368699G>A	ENST00000358136.3	+	27	6780		c.e27+1		VPS13D_ENST00000356315.4_Splice_Site	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)						protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ATTTGGACAAGTGAGTGtttt	0.488													A	12368699	G	A	12368699	5	1	364	1	0	0	0	0	0	0	1	0	17294	1043	36	2	6753	2	VPS13D	1	12368699	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9337	12368699	236881922	126	23628											
VPS13D	55187	broad.mit.edu	37	chr1	12418629	12418629	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagtcatccagcaaggAaaccgcccagggctgatcta	13	7	10	11	1	2	2	1	2	1	0	3	3	3	3	3	2	2	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12418629A>G	ENST00000358136.3	+	50	10243	c.10113A>G	c.(10111-10113)ggA>ggG	p.G3371G	VPS13D_ENST00000356315.4_Silent_p.G3346G	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3370					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TCCAGCAAGGAAACCGCCCAG	0.552													G	12418629	A	G	12418629	2	3	364	1	0	0	0	0	0	0	0	1	17294	233	9	3		3	VPS13D	1	12418629	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49930	12418629	236831992	127	23629											
DHRS3	9249	broad.mit.edu	37	chr1	12638855	12638855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcaggctctccatgaaggCgaaggctgacgctttggatg	8	9	15	9	2	2	2	1	2	1	0	3	4	2	3	1	5	0	3	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12638855C>T	ENST00000376223.2	-	4	972	c.589G>A	c.(589-591)Gcc>Acc	p.A197T		NM_004753.4	NP_004744.2	O75911	DHRS3_HUMAN	dehydrogenase/reductase (SDR family) member 3	197					retinol metabolic process|visual perception	integral to membrane	electron carrier activity|NADP-retinol dehydrogenase activity|nucleotide binding			cervix(1)|large_intestine(4)|lung(2)|prostate(1)|skin(1)	9	Ovarian(185;0.249)	Lung NSC(185;4.11e-05)|all_lung(284;4.58e-05)|Renal(390;0.000147)|Colorectal(325;0.000585)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|Colorectal(212;9.25e-07)|COAD - Colon adenocarcinoma(227;0.000326)|BRCA - Breast invasive adenocarcinoma(304;0.000344)|Kidney(185;0.00235)|KIRC - Kidney renal clear cell carcinoma(229;0.00656)|STAD - Stomach adenocarcinoma(313;0.00798)|READ - Rectum adenocarcinoma(331;0.0419)	Vitamin A(DB00162)	TCCATGAAGGCGAAGGCTGAC	0.622													T	12638855	C	T	12638855	3	4	364	1	0	0	0	0	1	0	0	0	4530	768	27	1	331	1	DHRS3	1	12638855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	220226	12638855	236611766	128	23630											
AADACL4	343066	broad.mit.edu	37	chr1	12711226	12711226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgtgagaattaaaaaggacCctgaacttgtggtgaccgac	13	8	12	8	2	0	3	0	3	0	1	0	6	0	4	2	2	1	0	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12711226C>T	ENST00000376221.1	+	2	253	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	85						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TAAAAAGGACCCTGAACTTGT	0.483													T	12711226	C	T	12711226	3	4	364	1	0	0	0	0	1	0	0	0	13	623	22	2	259	2	AADACL4	1	12711226	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72371	12711226	236539395	129	23631											
C1orf158	93190	broad.mit.edu	37	chr1	12806454	12806454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaagtattcaacgaaaGtgctcactggaaattggatg	15	9	10	7	1	2	1	2	0	0	1	2	4	2	3	1	2	2	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12806454G>A	ENST00000288048.5	+	1	292	c.76G>A	c.(76-78)Gtg>Atg	p.V26M	C1orf158_ENST00000474179.1_3'UTR|C1orf158_ENST00000376210.3_Missense_Mutation_p.V26M	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	26										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		TTCAACGAAAGTGCTCACTGG	0.488													A	12806454	G	A	12806454	3	1	364	1	0	0	0	0	1	0	0	0	2027	1029	36	2	78	2	C1orf158	1	12806454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95228	12806454	236444167	130	23632											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837158	12837158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttctctcccaggtgtCtccaggcccccttggagaca	5	12	9	15	0	3	1	0	0	3	1	6	2	4	1	4	3	0	1	4	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12837158C>A	ENST00000357726.4	+	3	895	c.868C>A	c.(868-870)Ctc>Atc	p.L290I		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	290										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCAGGTGTCTCCAGGCCCC	0.527													A	12837158	C	A	12837158	3	1	364	1	0	0	0	0	1	0	0	0	12510	913	32	4	878	4	PRAMEF12	1	12837158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30704	12837158	236413463	131	23633											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854399	12854399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatacctgaatagtattcAagagctggaaattcgcaaca	17	10	7	7	1	1	2	1	1	0	1	2	3	1	3	1	1	3	3	1	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12854399A>G	ENST00000332296.7	+	3	726	c.623A>G	c.(622-624)cAa>cGa	p.Q208R		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	208										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGTATTCAAGAGCTGGAA	0.398													G	12854399	A	G	12854399	3	3	364	1	0	0	0	0	1	0	0	0	12507	130	5	3	629	3	PRAMEF1	1	12854399	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17241	12854399	236396222	132	23634											
PRAMEF1	65121	broad.mit.edu	37	chr1	12856088	12856088	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcattggccccaccccCtgcccttcctgtggctcatc	4	12	6	19	0	3	0	2	0	1	0	5	0	4	0	6	2	1	1	6	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12856088C>A	ENST00000332296.7	+	4	1471	c.1368C>A	c.(1366-1368)ccC>ccA	p.P456P	PRAMEF1_ENST00000400814.3_Silent_p.P211P	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	456										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCCCCACCCCCTGCCCTTCCT	0.557													A	12856088	C	A	12856088	2	1	364	1	0	0	0	0	0	0	0	1	12507	668	24	4		4	PRAMEF1	1	12856088	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1689	12856088	236394533	133	23635											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887407	12887407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgatattgcggaagggCattcccaaaattttcagctt	10	14	8	9	1	2	1	1	1	1	0	3	2	3	2	1	2	2	2	1	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887407C>T	ENST00000535591.1	-	3	645	c.450G>A	c.(448-450)atG>atA	p.M150I		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	150										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TGCGGAAGGGCATTCCCAAAA	0.468													T	12887407	C	T	12887407	3	4	364	1	0	0	0	0	1	0	0	0	12509	710	25	2	868	2	PRAMEF11	1	12887407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31319	12887407	236363214	134	23636											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887615	12887615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattgaggaagcacccatggGccatagcttcagaccaaacc	13	6	9	13	0	1	2	1	1	0	1	1	3	1	3	4	2	3	2	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12887615G>A	ENST00000535591.1	-	3	437	c.242C>T	c.(241-243)gCc>gTc	p.A81V		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	81										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						GCACCCATGGGCCATAGCTTC	0.483													A	12887615	G	A	12887615	3	1	364	1	0	0	0	0	1	0	0	0	12509	1203	42	2	1076	2	PRAMEF11	1	12887615	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208	12887615	236363006	135	23637											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907884	12907884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctcggttcacttttggctCtgcagccaggttaatatcta	7	15	8	11	1	3	0	1	0	2	0	5	0	4	0	2	3	2	4	2	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:12907884C>T	ENST00000317869.6	-	2	484	c.259G>A	c.(259-261)Gag>Aag	p.E87K		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						ACTTTTGGCTCTGCAGCCAGG	0.478													T	12907884	C	T	12907884	3	4	364	1	0	0	0	0	1	0	0	0	7318	922	32	2	624	2	HNRNPCL1	1	12907884	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20269	12907884	236342737	136	23638											
PRDM2	7799	broad.mit.edu	37	chr1	14105542	14105542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatgaagcagggttaaagCggaaacccagccaaacacta	16	4	10	11	1	0	1	0	1	0	0	0	2	0	2	3	2	5	2	3	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14105542C>T	ENST00000235372.7	+	8	2108	c.1252C>T	c.(1252-1254)Cgg>Tgg	p.R418W	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.R418W|PRDM2_ENST00000343137.4_Missense_Mutation_p.R217W|PRDM2_ENST00000413440.1_Missense_Mutation_p.R217W|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	418						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGGGTTAAAGCGGAAACCCAG	0.512													T	14105542	C	T	14105542	3	4	364	1	0	0	0	0	1	0	0	0	12544	759	27	1	1278	1	PRDM2	1	14105542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1197658	14105542	235145079	137	23639											
PRDM2	7799	broad.mit.edu	37	chr1	14106983	14106983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttctcaatgaatataatgGcatcgatttacctgtagaaa	14	14	6	7	1	2	2	1	1	2	1	4	3	2	2	1	1	1	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14106983G>A	ENST00000235372.7	+	8	3549	c.2693G>A	c.(2692-2694)gGc>gAc	p.G898D	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.G898D|PRDM2_ENST00000343137.4_Missense_Mutation_p.G697D|PRDM2_ENST00000413440.1_Missense_Mutation_p.G697D|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	898						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GAATATAATGGCATCGATTTA	0.478													A	14106983	G	A	14106983	3	1	364	1	0	0	0	0	1	0	0	0	12544	1203	42	2	2719	2	PRDM2	1	14106983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1441	14106983	235143638	138	23640											
PRDM2	7799	broad.mit.edu	37	chr1	14107097	14107097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctggtttccctgcccCtactgttgagtccacacctg	4	12	10	15	0	1	1	0	1	1	0	3	1	3	1	5	2	2	3	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:14107097C>A	ENST00000235372.7	+	8	3663	c.2807C>A	c.(2806-2808)cCt>cAt	p.P936H	PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.P936H|PRDM2_ENST00000343137.4_Missense_Mutation_p.P735H|PRDM2_ENST00000413440.1_Missense_Mutation_p.P735H|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	936	Pro-rich.					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TTCCCTGCCCCTACTGTTGAG	0.562													A	14107097	C	A	14107097	3	1	364	1	0	0	0	0	1	0	0	0	12544	681	24	4	2833	4	PRDM2	1	14107097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	14107097	235143524	139	23641											
TMEM51	55092	broad.mit.edu	37	chr1	15546060	15546060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaggcagaactctaagttgGccaaacgactgaaaccgctg	14	6	10	11	2	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	4	2	rs149266693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15546060G>A	ENST00000428417.1	+	3	1029	c.583G>A	c.(583-585)Gcc>Acc	p.A195T	TMEM51_ENST00000434578.2_3'UTR|TMEM51_ENST00000376008.2_Missense_Mutation_p.A195T|TMEM51_ENST00000376014.3_Missense_Mutation_p.A195T|TMEM51_ENST00000400796.3_Missense_Mutation_p.A195T	NM_001136217.1	NP_001129689.1	Q9NW97	TMM51_HUMAN	transmembrane protein 51	195						integral to membrane				breast(1)|central_nervous_system(1)|cervix(3)|large_intestine(2)|lung(5)|prostate(2)	14		Renal(390;0.00145)|Breast(348;0.00186)|Colorectal(325;0.00215)|all_lung(284;0.00459)|Lung NSC(340;0.0104)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;2.07e-06)|COAD - Colon adenocarcinoma(227;7.14e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000175)|KIRC - Kidney renal clear cell carcinoma(229;0.00141)|STAD - Stomach adenocarcinoma(313;0.00644)|READ - Rectum adenocarcinoma(331;0.0751)		CTCTAAGTTGGCCAAACGACT	0.547													A	15546060	G	A	15546060	3	1	364	1	0	0	0	0	1	0	0	0	16277	1203	42	2	589	2	TMEM51	1	15546060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1438963	15546060	233704561	140	23642											
CELA2A	63036	broad.mit.edu	37	chr1	15789268	15789268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgggccggcacaacCtctacgttgcggagtccggc	5	7	16	13	4	1	0	0	0	1	0	2	1	2	1	3	6	3	3	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15789268C>A	ENST00000359621.4	+	4	293	c.268C>A	c.(268-270)Ctc>Atc	p.L90I		NM_033440.2	NP_254275.1	P08217	CEL2A_HUMAN	chymotrypsin-like elastase family, member 2A	90	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(2)|prostate(1)	16						CCGGCACAACCTCTACGTTGC	0.592													A	15789268	C	A	15789268	3	1	364	1	0	0	0	0	1	0	0	0	3241	681	24	4	282	4	CELA2A	1	15789268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243208	15789268	233461353	141	23643											
CELA2B	51032	broad.mit.edu	37	chr1	15802621	15802621	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactcccacggacacaccAtgattaggaccctgctgctg	11	7	9	14	1	0	2	0	1	0	1	1	4	1	4	3	2	3	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802621A>G	ENST00000375910.3	+	1	26	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	1					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						CGGACACACCATGATTAGGAC	0.547													G	15802621	A	G	15802621	1	3	364	1	0	0	0	0	0	0	0	0	3242	217	8	3		3	CELA2B	1	15802621	Translation_Start_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13353	15802621	233448000	142	23644											
CELA2B	51032	broad.mit.edu	37	chr1	15802639	15802639	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgattaggaccctgctgCtgtccactttggtggctgga	6	12	12	11	0	0	1	0	1	0	0	1	3	1	3	3	4	2	3	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15802639C>T	ENST00000375910.3	+	1	44	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CELA2B_ENST00000494280.1_Intron	NM_015849.2	NP_056933	P08218	CEL2B_HUMAN	chymotrypsin-like elastase family, member 2B	7					proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						GACCCTGCTGCTGTCCACTTT	0.547													T	15802639	C	T	15802639	2	4	364	1	0	0	0	0	0	0	0	1	3242	796	28	2		2	CELA2B	1	15802639	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	15802639	233447982	143	23645											
DDI2	84301	broad.mit.edu	37	chr1	15964861	15964861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaggctccggaaagttttgGccaagtagtgatgctttata	11	12	12	6	1	0	2	0	1	0	1	1	3	1	3	2	3	1	4	2	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15964861G>T	ENST00000480945.1	+	5	863	c.692G>T	c.(691-693)gGc>gTc	p.G231V		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	231					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		GAAAGTTTTGGCCAAGTAGTG	0.418													T	15964861	G	T	15964861	3	4	364	1	0	0	0	0	1	0	0	0	4363	1203	42	4	710	4	DDI2	1	15964861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162222	15964861	233285760	144	23646											
RSC1A1	6248	broad.mit.edu	37	chr1	15987550	15987550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccagtattaaagacctttCtgaaagatggacccaaaatg	17	9	7	8	0	1	3	0	1	1	2	1	4	1	4	3	1	1	1	3	1	7	3	rs144434741		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:15987550C>T	ENST00000345034.1	+	1	1187	c.1187C>T	c.(1186-1188)tCt>tTt	p.S396F	DDI2_ENST00000480945.1_3'UTR	NM_006511.1	NP_006502.1	Q92681	RSCA1_HUMAN	regulatory solute carrier protein, family 1, member 1	396					negative regulation of transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	cell junction|Golgi apparatus|nucleus	ion channel inhibitor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)	11		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00276)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAAGACCTTTCTGAAAGATGG	0.398													T	15987550	C	T	15987550	3	4	364	1	0	0	0	0	1	0	0	0	13789	913	32	2	1189	2	RSC1A1	1	15987550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22689	15987550	233263071	145	23647											
PLEKHM2	23207	broad.mit.edu	37	chr1	16059187	16059187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaactggaccgattgctGtctgcactgaactctgggtg	7	12	12	10	1	3	2	0	2	3	0	3	4	3	3	1	2	4	2	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16059187G>A	ENST00000375799.3	+	19	3113	c.2886G>A	c.(2884-2886)ctG>ctA	p.L962L	PLEKHM2_ENST00000375793.2_Silent_p.L942L|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	962					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		ACCGATTGCTGTCTGCACTGA	0.617													A	16059187	G	A	16059187	2	1	364	1	0	0	0	0	0	0	0	1	12158	1364	48	2		2	PLEKHM2	1	16059187	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71637	16059187	233191434	146	23648											
PLEKHM2	23207	broad.mit.edu	37	chr1	16060322	16060322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacacggcgatccaggaaGcctccaacaagaagaaattc	15	4	8	14	2	0	2	0	0	0	2	3	4	2	3	4	2	2	0	4	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16060322G>A	ENST00000375799.3	+	20	3180	c.2953G>A	c.(2953-2955)Gcc>Acc	p.A985T	PLEKHM2_ENST00000375793.2_Missense_Mutation_p.A965T|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	985					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATCCAGGAAGCCTCCAACAA	0.637													A	16060322	G	A	16060322	3	1	364	1	0	0	0	0	1	0	0	0	12158	971	34	2	3031	2	PLEKHM2	1	16060322	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1135	16060322	233190299	147	23649											
TMEM82	388595	broad.mit.edu	37	chr1	16070707	16070707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacctgctgtgccagtactCgctgggctgcgggctgacct	4	10	13	14	2	0	1	0	1	0	0	1	1	0	1	3	2	5	5	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16070707C>T	ENST00000375782.1	+	4	527	c.389C>T	c.(388-390)tCg>tTg	p.S130L	TMEM82_ENST00000465575.1_3'UTR|RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	130	Leu-rich.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCAGTACTCGCTGGGCTGC	0.706													T	16070707	C	T	16070707	3	4	364	1	0	0	0	0	1	0	0	0	16306	893	31	1	403	1	TMEM82	1	16070707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10385	16070707	233179914	148	23650											
SPEN	23013	broad.mit.edu	37	chr1	16235929	16235929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggaaaaagatgagccccGtaaaagttttggcatcaagg	14	9	11	7	1	2	2	1	1	1	1	2	3	2	3	2	3	1	3	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16235929G>A	ENST00000375759.3	+	4	1199	c.995G>A	c.(994-996)cGt>cAt	p.R332H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	332					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GATGAGCCCCGTAAAAGTTTT	0.458													A	16235929	G	A	16235929	3	1	364	1	0	0	0	0	1	0	0	0	15134	1145	40	1	1009	1	SPEN	1	16235929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165222	16235929	233014692	149	23651											
SPEN	23013	broad.mit.edu	37	chr1	16245447	16245447	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattaagaaagtaaatggAgttcctcagtatgcgtttct	13	13	9	6	1	2	1	1	0	1	1	3	3	3	2	1	1	1	4	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16245447A>T	ENST00000375759.3	+	7	1626	c.1422A>T	c.(1420-1422)ggA>ggT	p.G474G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	474	RRM 3.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGTAAATGGAGTTCCTCAGT	0.353													T	16245447	A	T	16245447	2	4	364	1	0	0	0	0	0	0	0	1	15134	291	11	5		5	SPEN	1	16245447	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9518	16245447	233005174	150	23652											
SPEN	23013	broad.mit.edu	37	chr1	16254739	16254739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacttaccaaggagactaCtatgaatcacgatactacga	17	8	7	9	2	1	2	1	1	0	1	1	6	1	2	1	1	5	0	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16254739C>T	ENST00000375759.3	+	11	2208	c.2004C>T	c.(2002-2004)taC>taT	p.Y668Y		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	668	Arg-rich.|Tyr-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		AAGGAGACTACTATGAATCAC	0.443													T	16254739	C	T	16254739	2	4	364	1	0	0	0	0	0	0	0	1	15134	576	20	2		2	SPEN	1	16254739	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9292	16254739	232995882	151	23653											
SPEN	23013	broad.mit.edu	37	chr1	16260357	16260357	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggaagattctcatggaccCcaagtatgtgtctgccacaa	12	9	10	10	0	2	1	1	0	2	1	3	4	2	3	3	2	1	1	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260357C>A	ENST00000375759.3	+	11	7826	c.7622C>A	c.(7621-7623)cCc>cAc	p.P2541H		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2541	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CTCATGGACCCCAAGTATGTG	0.582													A	16260357	C	A	16260357	3	1	364	1	0	0	0	0	1	0	0	0	15134	623	22	4	7664	4	SPEN	1	16260357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5618	16260357	232990264	152	23654											
SPEN	23013	broad.mit.edu	37	chr1	16260841	16260841	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgtgaatgttcttacgggGccagtgaatgttctcaccac	8	12	10	11	1	2	2	1	2	2	0	3	2	2	2	3	2	1	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16260841G>A	ENST00000375759.3	+	11	8310	c.8106G>A	c.(8104-8106)ggG>ggA	p.G2702G		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2702	RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TTCTTACGGGGCCAGTGAATG	0.592													A	16260841	G	A	16260841	2	1	364	1	0	0	0	0	0	0	0	1	15134	1190	42	2		2	SPEN	1	16260841	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	484	16260841	232989780	153	23655											
ZBTB17	7709	broad.mit.edu	37	chr1	16272784	16272784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcctctttggctctcttgtCccctcctggagatggaacag	5	13	9	14	0	2	1	0	0	2	1	6	3	5	2	4	3	1	1	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16272784C>T	ENST00000375733.2	-	5	638	c.400G>A	c.(400-402)Gac>Aac	p.D134N	ZBTB17_ENST00000537142.1_Missense_Mutation_p.D52N|ZBTB17_ENST00000479282.1_5'UTR|ZBTB17_ENST00000448462.2_Missense_Mutation_p.D71N|ZBTB17_ENST00000375743.4_Missense_Mutation_p.D134N			Q13105	ZBT17_HUMAN	zinc finger and BTB domain containing 17	134					negative regulation of cell cycle	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)	15		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|Colorectal(212;4.12e-07)|COAD - Colon adenocarcinoma(227;2.43e-05)|BRCA - Breast invasive adenocarcinoma(304;9.97e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GCTCTCTTGTCCCCTCCTGGA	0.622													T	16272784	C	T	16272784	3	4	364	1	0	0	0	0	1	0	0	0	17628	855	30	2	2059	2	ZBTB17	1	16272784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11943	16272784	232977837	154	23656											
HSPB7	27129	broad.mit.edu	37	chr1	16343580	16343580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctcaccttctcagcccGcacctcgatgtggttgttgg	4	11	13	13	2	2	0	2	0	1	0	4	1	2	0	3	4	1	4	3	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16343580G>A	ENST00000311890.9	-	2	1148	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	HSPB7_ENST00000411503.1_Intron|HSPB7_ENST00000487046.1_Missense_Mutation_p.R113W|HSPB7_ENST00000375718.4_Missense_Mutation_p.R183W|HSPB7_ENST00000406363.2_Missense_Mutation_p.R112W	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	108					regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCAGCCCGCACCTCGATG	0.572													A	16343580	G	A	16343580	3	1	364	1	0	0	0	0	1	0	0	0	7480	1086	38	1	198	1	HSPB7	1	16343580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70796	16343580	232907041	155	23657											
CLCNKA	1187	broad.mit.edu	37	chr1	16353030	16353030	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccacccttccctctgcaGggccctttcgtgcacctgtc	3	10	9	19	1	1	0	0	0	1	0	4	0	2	0	5	2	2	2	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353030G>T	ENST00000375692.1	+	7	626		c.e7-1		CLCNKA_ENST00000420078.1_Splice_Site|CLCNKA_ENST00000464764.1_Splice_Site|CLCNKA_ENST00000331433.4_Splice_Site|CLCNKA_ENST00000439316.2_Splice_Site			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka						excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCTCTGCAGGGCCCTTTCG	0.662													T	16353030	G	T	16353030	5	4	364	1	0	0	0	0	0	0	1	0	3500	1014	35	4	516	4	CLCNKA	1	16353030	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9450	16353030	232897591	156	23658											
CLCNKA	1187	broad.mit.edu	37	chr1	16353844	16353844	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgtcttcccacttctCtgtccgggattactggaggg	5	13	12	11	1	3	0	1	0	2	0	6	2	5	2	2	4	1	0	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16353844C>A	ENST00000375692.1	+	9	823	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CLCNKA_ENST00000420078.1_Missense_Mutation_p.S232Y|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Missense_Mutation_p.S232Y|CLCNKA_ENST00000439316.2_Missense_Mutation_p.S189Y			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	232					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	TCCCACTTCTCTGTCCGGGAT	0.647													A	16353844	C	A	16353844	3	1	364	1	0	0	0	0	1	0	0	0	3500	913	32	4	721	4	CLCNKA	1	16353844	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	814	16353844	232896777	157	23659											
CLCNKA	1187	broad.mit.edu	37	chr1	16359021	16359021	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagagaccaccttgcaccaGgtaacaagtattggggagtg	12	8	12	9	0	1	1	1	0	0	1	1	3	1	2	3	3	2	3	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16359021G>T	ENST00000375692.1	+	19	2054	c.1926G>T	c.(1924-1926)caG>caT	p.Q642H	CLCNKA_ENST00000420078.1_Splice_Site_p.Q642H|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000331433.4_Splice_Site_p.Q643H|CLCNKA_ENST00000439316.2_Splice_Site_p.Q600H			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	643	CBS 2.				excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CCTTGCACCAGGTAACAAGTA	0.642											OREG0013132	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	16359021	G	T	16359021	5	4	364	1	0	0	0	0	0	0	1	0	3500	1014	35	4	1995	4	CLCNKA	1	16359021	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5177	16359021	232891600	158	23660											
CLCNKB	1188	broad.mit.edu	37	chr1	16374411	16374411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgccaaggttctggaatcCcggaggtgaagaccatgttg	9	8	13	11	2	1	2	0	1	1	1	2	4	2	4	4	4	0	2	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374411C>A	ENST00000375679.4	+	5	481	c.370C>A	c.(370-372)Ccg>Acg	p.P124T		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTGGAATCCCGGAGGTGAA	0.547													A	16374411	C	A	16374411	3	1	364	1	0	0	0	0	1	0	0	0	3501	623	22	4	384	4	CLCNKB	1	16374411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15390	16374411	232876210	159	23661											
CLCNKB	1188	broad.mit.edu	37	chr1	16374441	16374441	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaccatgttggcgggtgtgGtcttggaggactacctggat	7	11	16	7	1	1	1	0	0	1	1	1	4	1	4	2	6	1	1	2	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16374441G>A	ENST00000375679.4	+	5	511	c.400G>A	c.(400-402)Gtc>Atc	p.V134I		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGCGGGTGTGGTCTTGGAGGA	0.582													A	16374441	G	A	16374441	3	1	364	1	0	0	0	0	1	0	0	0	3501	1261	44	2	414	2	CLCNKB	1	16374441	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	16374441	232876180	160	23662											
CLCNKB	1188	broad.mit.edu	37	chr1	16376349	16376349	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcgcttacctcttctgTcagcgaatcttctttggctt	5	15	9	12	2	5	0	1	0	4	0	5	1	5	0	1	2	3	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16376349T>C	ENST00000375679.4	+	10	1017	c.906T>C	c.(904-906)tgT>tgC	p.C302C	CLCNKB_ENST00000375667.3_Silent_p.C133C	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		ACCTCTTCTGTCAGCGAATCT	0.612													C	16376349	T	C	16376349	2	2	364	1	0	0	0	0	0	0	0	1	3501	1673	58	3		3	CLCNKB	1	16376349	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1908	16376349	232874272	161	23663											
CLCNKB	1188	broad.mit.edu	37	chr1	16377038	16377038	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactccgctctggccacCttggttctcgcctccatcac	4	12	8	17	2	3	0	1	0	2	0	6	0	5	0	5	2	1	3	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16377038C>A	ENST00000375679.4	+	11	1107	c.996C>A	c.(994-996)acC>acA	p.T332T	CLCNKB_ENST00000375667.3_Silent_p.T163T	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGGCCACCTTGGTTCTCG	0.647													A	16377038	C	A	16377038	2	1	364	1	0	0	0	0	0	0	0	1	3501	668	24	4		4	CLCNKB	1	16377038	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	689	16377038	232873583	162	23664											
EPHA2	1969	broad.mit.edu	37	chr1	16456915	16456915	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgatggctttcatcacCtggcggggcacgaaggtcag	8	10	13	10	2	4	1	4	1	0	0	4	2	4	1	1	5	0	2	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16456915C>A	ENST00000358432.5	-	15	2630		c.e15-1			NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2						activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	CTTTCATCACCTGGCGGGGCA	0.632													A	16456915	C	A	16456915	5	1	364	1	0	0	0	0	0	0	1	0	5208	695	24	4	467	4	EPHA2	1	16456915	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79877	16456915	232793706	163	23665											
EPHA2	1969	broad.mit.edu	37	chr1	16461639	16461639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggtcgtccagggtcaCggagaaaccctcggtgcggc	7	5	16	13	4	1	1	1	0	0	1	4	2	2	1	3	6	2	0	3	6	1	0	rs141123184		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16461639C>T	ENST00000358432.5	-	7	1628	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M		NM_004431.3	NP_004422.2	P29317	EPHA2_HUMAN	EPH receptor A2	492	Fibronectin type-III 2.				activation of Rac GTPase activity|angiogenesis|apoptosis|cell chemotaxis|negative regulation of protein kinase B signaling cascade|positive regulation of establishment of protein localization in plasma membrane|protein kinase B signaling cascade|regulation of blood vessel endothelial cell migration|regulation of cell adhesion mediated by integrin|regulation of lamellipodium assembly|response to growth factor stimulus	focal adhesion|integral to plasma membrane|lamellipodium membrane|ruffle membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|Colorectal(212;3.63e-07)|COAD - Colon adenocarcinoma(227;2.25e-05)|BRCA - Breast invasive adenocarcinoma(304;9.58e-05)|Kidney(64;0.000175)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(313;0.00669)|READ - Rectum adenocarcinoma(331;0.0649)	Dasatinib(DB01254)	TCCAGGGTCACGGAGAAACCC	0.682													T	16461639	C	T	16461639	3	4	364	1	0	0	0	0	1	0	0	0	5208	536	19	1	1500	1	EPHA2	1	16461639	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4724	16461639	232788982	164	23666											
ARHGEF19	128272	broad.mit.edu	37	chr1	16535349	16535349	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaggggcaggggtcccCagggaccagcggctgccagg	7	3	20	11	1	0	1	0	0	0	1	1	3	1	2	4	8	2	2	4	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535349C>A	ENST00000270747.3	-	2	337	c.201G>T	c.(199-201)ctG>ctT	p.L67L		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	67					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGGGTCCCCAGGGACCAGC	0.662													A	16535349	C	A	16535349	2	1	364	1	0	0	0	0	0	0	0	1	905	581	21	4		4	ARHGEF19	1	16535349	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73710	16535349	232715272	165	23667											
ARHGEF19	128272	broad.mit.edu	37	chr1	16535421	16535421	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccagacacactgggctCgggggcttcagggcgggcag	7	5	18	11	2	1	1	1	0	0	1	3	1	2	1	1	6	0	3	1	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535421C>A	ENST00000270747.3	-	2	265	c.129G>T	c.(127-129)ccG>ccT	p.P43P		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	43					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		ACACTGGGCTCGGGGGCTTCA	0.672													A	16535421	C	A	16535421	2	1	364	1	0	0	0	0	0	0	0	1	905	871	31	4		4	ARHGEF19	1	16535421	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72	16535421	232715200	166	23668											
ARHGEF19	128272	broad.mit.edu	37	chr1	16535435	16535435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcgggggcttcagggCgggcagctctgcaaaggaca	7	6	18	10	2	2	0	1	0	1	0	3	1	2	1	0	6	2	5	0	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16535435C>T	ENST00000270747.3	-	2	251	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	39					regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGCTTCAGGGCGGGCAGCTCT	0.677													T	16535435	C	T	16535435	3	4	364	1	0	0	0	0	1	0	0	0	905	768	27	1	2353	1	ARHGEF19	1	16535435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	16535435	232715186	167	23669											
FBXO42	54455	broad.mit.edu	37	chr1	16641705	16641705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgcagacaagggccgcaGttttgtgttcctgatacggt	7	13	13	8	2	0	2	0	1	0	1	1	2	1	2	2	2	2	5	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16641705G>A	ENST00000375592.3	-	2	425	c.209C>T	c.(208-210)aCt>aTt	p.T70I	FBXO42_ENST00000478089.1_5'UTR	NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	70	F-box.									autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		AAGGGCCGCAGTTTTGTGTTC	0.413													A	16641705	G	A	16641705	3	1	364	1	0	0	0	0	1	0	0	0	5800	1029	36	2	1980	2	FBXO42	1	16641705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106270	16641705	232608916	168	23670											
SPATA21	374955	broad.mit.edu	37	chr1	16731549	16731549	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatattcttcaggctctGtgcatccacctcaccaggac	9	10	8	14	0	4	0	2	0	2	0	5	2	5	2	3	3	1	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16731549G>A	ENST00000335496.1	-	8	1206	c.724C>T	c.(724-726)Cag>Tag	p.Q242*	SPATA21_ENST00000466212.1_5'UTR|SPATA21_ENST00000540400.1_Nonsense_Mutation_p.Q219*	NM_198546.1	NP_940948.1	Q7Z572	SPT21_HUMAN	spermatogenesis associated 21	242							calcium ion binding			breast(1)|endometrium(2)|lung(8)|ovary(2)|pancreas(3)|stomach(1)|urinary_tract(2)	19		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;4.2e-05)|Kidney(64;0.000183)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(313;0.0122)|READ - Rectum adenocarcinoma(331;0.0651)		TTCAGGCTCTGTGCATCCACC	0.552													A	16731549	G	A	16731549	4	1	364	1	0	0	0	0	0	1	0	0	15103	1386	48	2	709	2	SPATA21	1	16731549	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89844	16731549	232519072	169	23671											
NECAP2	55707	broad.mit.edu	37	chr1	16770223	16770223	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagctggaggacaggacGtcaggtaaccggaagggagg	13	4	17	7	2	2	0	2	0	0	0	2	5	2	5	1	7	2	2	1	7	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16770223G>A	ENST00000337132.5	+	2	279	c.189G>A	c.(187-189)acG>acA	p.T63T	NECAP2_ENST00000504551.2_Intron|NECAP2_ENST00000457722.2_Silent_p.T37T|NECAP2_ENST00000443980.2_Silent_p.T63T|NECAP2_ENST00000406746.1_Silent_p.T63T	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	63					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		AGGACAGGACGTCAGGTAACC	0.617													A	16770223	G	A	16770223	2	1	364	1	0	0	0	0	0	0	0	1	10384	1132	40	1		1	NECAP2	1	16770223	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38674	16770223	232480398	170	23672											
NECAP2	55707	broad.mit.edu	37	chr1	16782322	16782322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcaataggaggtgctcCtgtaccctggccacagccca	11	7	9	14	0	1	0	1	0	0	0	2	1	2	1	4	3	4	2	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782322C>A	ENST00000337132.5	+	7	767	c.677C>A	c.(676-678)cCt>cAt	p.P226H	NECAP2_ENST00000457722.2_Missense_Mutation_p.P200H|NECAP2_ENST00000406746.1_Missense_Mutation_p.P226H|NECAP2_ENST00000504551.2_Missense_Mutation_p.P165H|NECAP2_ENST00000443980.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	226					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGTGCTCCTGTACCCTGG	0.542													A	16782322	C	A	16782322	3	1	364	1	0	0	0	0	1	0	0	0	10384	681	24	4	703	4	NECAP2	1	16782322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12099	16782322	232468299	171	23673											
NECAP2	55707	broad.mit.edu	37	chr1	16782362	16782362	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgccactgctgacatCtggggagactttaccaaatc	11	10	8	12	0	1	2	0	1	1	1	3	3	2	2	3	2	3	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16782362C>A	ENST00000337132.5	+	7	807	c.717C>A	c.(715-717)atC>atA	p.I239I	NECAP2_ENST00000457722.2_Silent_p.I213I|NECAP2_ENST00000406746.1_Silent_p.I239I|NECAP2_ENST00000504551.2_Silent_p.I178I|NECAP2_ENST00000443980.2_Intron	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	239					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCTGACATCTGGGGAGACT	0.567													A	16782362	C	A	16782362	2	1	364	1	0	0	0	0	0	0	0	1	10384	903	32	4		4	NECAP2	1	16782362	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40	16782362	232468259	172	23674											
NBPF1	55672	broad.mit.edu	37	chr1	16901153	16901153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acattcctccagtgagtcctCagggacttccttttcttcag	7	14	7	13	0	3	1	2	1	1	0	7	2	7	2	4	1	0	0	4	1	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901153C>T	ENST00000430580.2	-	21	3114	c.2227G>A	c.(2227-2229)Gag>Aag	p.E743K	NBPF1_ENST00000287968.8_Missense_Mutation_p.E108K|NBPF1_ENST00000432949.1_Missense_Mutation_p.E201K	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	743	NBPF 3.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTGAGTCCTCAGGGACTTCC	0.493													T	16901153	C	T	16901153	3	4	364	1	0	0	0	0	1	0	0	0	10268	835	29	2	1233	2	NBPF1	1	16901153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118791	16901153	232349468	173	23675											
NBPF1	55672	broad.mit.edu	37	chr1	16901708	16901708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacttgaacatcttcatcGtcatcgttgtcattttctgt	8	18	5	10	2	6	1	4	1	2	0	8	1	6	1	0	0	2	1	0	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16901708G>A	ENST00000430580.2	-	20	3023	c.2136C>T	c.(2134-2136)gaC>gaT	p.D712D	NBPF1_ENST00000287968.8_Silent_p.D77D|NBPF1_ENST00000432949.1_Silent_p.D170D	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	712	NBPF 3.		H -> D (in dbSNP:rs3901680).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CATCTTCATCGTCATCGTTGT	0.433													A	16901708	G	A	16901708	2	1	364	1	0	0	0	0	0	0	0	1	10268	1136	40	1		1	NBPF1	1	16901708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	555	16901708	232348913	174	23676											
NBPF1	55672	broad.mit.edu	37	chr1	16921465	16921465	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcttagcagtacgattcGttttcttgtaaggtgagcag	10	15	10	6	2	2	1	0	1	2	0	3	2	2	1	0	1	3	5	0	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:16921465G>A	ENST00000430580.2	-	0	461					NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		AGTACGATTCGTTTTCTTGTA	0.363													A	16921465	G	A	16921465	1	1	364	1	0	0	0	0	0	0	0	0	10268	1160	40	1		1	NBPF1	1	16921465	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19757	16921465	232329156	175	23677											
CROCC	9696	broad.mit.edu	37	chr1	17266488	17266488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgggccctagaggaacagCtgcagcgcctgcgggacaag	9	3	17	12	3	0	1	0	0	0	1	0	3	0	3	2	4	5	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17266488C>A	ENST00000375541.5	+	13	1777	c.1708C>A	c.(1708-1710)Ctg>Atg	p.L570M	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	570					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		AGAGGAACAGCTGCAGCGCCT	0.697													A	17266488	C	A	17266488	3	1	364	1	0	0	0	0	1	0	0	0	3924	796	28	4	1758	4	CROCC	1	17266488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345023	17266488	231984133	176	23678											
CROCC	9696	broad.mit.edu	37	chr1	17292335	17292335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacccggaggcagtgcGcggggccctccgggaattcc	5	5	16	15	4	0	0	0	0	0	0	2	3	2	3	5	6	1	1	5	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17292335G>A	ENST00000375541.5	+	28	4592	c.4523G>A	c.(4522-4524)cGc>cAc	p.R1508H		NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	1508					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAGGCAGTGCGCGGGGCCCTC	0.667													A	17292335	G	A	17292335	3	1	364	1	0	0	0	0	1	0	0	0	3924	1087	38	1	4633	1	CROCC	1	17292335	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25847	17292335	231958286	177	23679											
MFAP2	4237	broad.mit.edu	37	chr1	17303034	17303034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgggctccagctctgcatttCctggttctggtgtggagaca	5	13	13	10	0	2	1	0	0	2	1	4	2	4	1	2	4	2	4	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303034C>T	ENST00000375535.3	-	6	537	c.248G>A	c.(247-249)gGa>gAa	p.G83E	MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Missense_Mutation_p.G82E|MFAP2_ENST00000375534.3_Missense_Mutation_p.G82E			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2	83						microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		CTCTGCATTTCCTGGTTCTGG	0.607													T	17303034	C	T	17303034	3	4	364	1	0	0	0	0	1	0	0	0	9589	855	30	2	319	2	MFAP2	1	17303034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10699	17303034	231947587	178	23680											
MFAP2	4237	broad.mit.edu	37	chr1	17303391	17303391	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcctacccctagcccgttaCcttgataatcatagtagtct	10	13	5	13	1	2	1	1	1	1	0	3	1	3	1	5	0	3	2	5	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17303391C>A	ENST00000375535.3	-	4	444		c.e4+1		MFAP2_ENST00000490075.1_5'UTR|MFAP2_ENST00000438542.1_Splice_Site|MFAP2_ENST00000375534.3_Splice_Site			P55001	MFAP2_HUMAN	microfibrillar-associated protein 2							microfibril				kidney(1)|lung(1)	2		Colorectal(325;3.46e-05)|Breast(348;0.000118)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000538)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|COAD - Colon adenocarcinoma(227;1.07e-05)|BRCA - Breast invasive adenocarcinoma(304;3.04e-05)|Kidney(64;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00544)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TAGCCCGTTACCTTGATAATC	0.582													A	17303391	C	A	17303391	5	1	364	1	0	0	0	0	0	0	1	0	9589	521	18	4	420	4	MFAP2	1	17303391	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	357	17303391	231947230	179	23681											
ATP13A2	23400	broad.mit.edu	37	chr1	17313646	17313646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgctgagcagcgcccccGgtggccgcacccgtcccagg	5	3	14	19	5	0	1	0	1	0	0	1	1	1	1	5	3	2	4	5	3	0	0	rs146559160		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17313646G>A	ENST00000452699.1	-	26	3152	c.2963C>T	c.(2962-2964)cCg>cTg	p.P988L	ATP13A2_ENST00000341676.5_Missense_Mutation_p.P949L|ATP13A2_ENST00000326735.8_Missense_Mutation_p.P993L|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	993					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		CAGCGCCCCCGGTGGCCGCAC	0.692													A	17313646	G	A	17313646	3	1	364	1	0	0	0	0	1	0	0	0	1129	1116	39	1	816	1	ATP13A2	1	17313646	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10255	17313646	231936975	180	23682											
ATP13A2	23400	broad.mit.edu	37	chr1	17322537	17322537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggtggatgcagaaaatGccctgtctccgcagtcggct	8	9	14	10	2	1	1	0	0	1	1	3	2	1	2	2	3	2	3	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17322537G>A	ENST00000452699.1	-	15	1650	c.1461C>T	c.(1459-1461)ggC>ggT	p.G487G	ATP13A2_ENST00000341676.5_Silent_p.G487G|ATP13A2_ENST00000502860.1_5'UTR|ATP13A2_ENST00000326735.8_Silent_p.G492G|RP1-37C10.3_ENST00000446261.1_RNA	NM_001141973.1|NM_022089.2	NP_001135445.1|NP_071372.1	Q9NQ11	AT132_HUMAN	ATPase type 13A2	492					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Colorectal(325;0.000147)|Breast(348;0.00104)|Renal(390;0.00145)|Lung NSC(340;0.00566)|all_lung(284;0.00797)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|COAD - Colon adenocarcinoma(227;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;1.99e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)		TGCAGAAAATGCCCTGTCTCC	0.657													A	17322537	G	A	17322537	2	1	364	1	0	0	0	0	0	0	0	1	1129	1306	46	2		2	ATP13A2	1	17322537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8891	17322537	231928084	181	23683											
PADI2	11240	broad.mit.edu	37	chr1	17413088	17413088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctcgtcggggaaacagagGccttccacgaagaacagcag	12	4	12	13	3	0	2	0	0	0	2	3	4	1	3	3	3	3	1	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17413088G>A	ENST00000444885.2	-	5	599	c.518C>T	c.(517-519)gCc>gTc	p.A173V	PADI2_ENST00000375481.1_Silent_p.G254G|PADI2_ENST00000375486.4_Silent_p.G254G			Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	0					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	GGAAACAGAGGCCTTCCACGA	0.622													A	17413088	G	A	17413088	3	1	364	1	0	0	0	0	1	0	0	0	11454	1190	42	2	1275	2	PADI2	1	17413088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90551	17413088	231837533	182	23684											
PADI1	29943	broad.mit.edu	37	chr1	17552316	17552316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgccacagaaaacctggcGctggggccctgagggctatg	8	8	14	11	1	0	2	0	1	0	1	0	2	0	2	3	4	2	2	3	4	3	2	rs144288276		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17552316G>A	ENST00000375471.4	+	5	511	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	140					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	AAAACCTGGCGCTGGGGCCCT	0.587													A	17552316	G	A	17552316	3	1	364	1	0	0	0	0	1	0	0	0	11453	1087	38	1	437	1	PADI1	1	17552316	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139228	17552316	231698305	183	23685											
PADI3	51702	broad.mit.edu	37	chr1	17575639	17575639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaacaccagcatgtcgCtgcagagaatcgtgcgtgtg	10	8	12	11	3	0	1	0	0	0	1	3	2	1	1	2	0	4	3	2	0	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17575639C>A	ENST00000375460.3	+	1	47	c.7C>A	c.(7-9)Ctg>Atg	p.L3M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	3					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CAGCATGTCGCTGCAGAGAAT	0.612													A	17575639	C	A	17575639	3	1	364	1	0	0	0	0	1	0	0	0	11455	796	28	4	9	4	PADI3	1	17575639	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23323	17575639	231674982	184	23686											
PADI3	51702	broad.mit.edu	37	chr1	17593293	17593293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatccgagctgtgatgTccaggacaattgtgaccagc	10	10	12	9	1	0	4	0	4	0	0	2	6	2	5	3	1	2	1	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17593293T>C	ENST00000375460.3	+	5	528	c.488T>C	c.(487-489)gTc>gCc	p.V163A		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	163					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGCTGTGATGTCCAGGACAAT	0.602													C	17593293	T	C	17593293	3	2	364	1	0	0	0	0	1	0	0	0	11455	1667	58	3	506	3	PADI3	1	17593293	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17654	17593293	231657328	185	23687											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17934328	17934328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgctctacgaggatgcGcaccgggctggggcccctcg	6	6	14	15	4	1	0	0	0	1	0	2	2	1	1	4	4	4	3	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17934328G>A	ENST00000361221.3	+	7	624	c.465G>A	c.(463-465)gcG>gcA	p.A155A	ARHGEF10L_ENST00000452522.1_Silent_p.A155A|ARHGEF10L_ENST00000434513.1_Silent_p.A155A|ARHGEF10L_ENST00000375415.1_Silent_p.A155A|ARHGEF10L_ENST00000375420.3_5'UTR	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	155					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ACGAGGATGCGCACCGGGCTG	0.687													A	17934328	G	A	17934328	2	1	364	1	0	0	0	0	0	0	0	1	898	1074	38	1		1	ARHGEF10L	1	17934328	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	341035	17934328	231316293	186	23688											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17942691	17942691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctgcacaggaaggacGtcctcggtgaggcgctgccc	6	7	13	15	3	0	1	0	1	0	0	3	3	2	3	4	4	2	2	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17942691G>A	ENST00000361221.3	+	9	988	c.829G>A	c.(829-831)Gtc>Atc	p.V277I	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V277I|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V238I|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V35I	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	277					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAGGAAGGACGTCCTCGGTGA	0.637													A	17942691	G	A	17942691	3	1	364	1	0	0	0	0	1	0	0	0	898	1145	40	1	859	1	ARHGEF10L	1	17942691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8363	17942691	231307930	187	23689											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17949529	17949529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagatggagcccaaggcGctgagcgcccgcaagtgcca	10	4	15	12	3	0	2	0	1	0	1	0	4	0	3	3	3	3	2	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17949529G>A	ENST00000361221.3	+	12	1218	c.1059G>A	c.(1057-1059)gcG>gcA	p.A353A	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Silent_p.A131A|ARHGEF10L_ENST00000452522.1_Silent_p.A314A|ARHGEF10L_ENST00000434513.1_Silent_p.A353A|ARHGEF10L_ENST00000375408.3_Silent_p.A131A|ARHGEF10L_ENST00000375415.1_Silent_p.A314A|ARHGEF10L_ENST00000375420.3_Silent_p.A111A	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	353	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		AGCCCAAGGCGCTGAGCGCCC	0.677													A	17949529	G	A	17949529	2	1	364	1	0	0	0	0	0	0	0	1	898	1074	38	1		1	ARHGEF10L	1	17949529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6838	17949529	231301092	188	23690											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17961055	17961055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccaggcctgccaaccaCaggtacgtggttcagggggc	7	8	13	13	1	1	0	1	0	0	0	2	0	2	0	4	5	3	2	4	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17961055C>T	ENST00000361221.3	+	17	1902	c.1743C>T	c.(1741-1743)caC>caT	p.H581H	ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000167825.4_Intron|ARHGEF10L_ENST00000452522.1_Silent_p.H542H|ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375408.3_Intron|ARHGEF10L_ENST00000375415.1_Silent_p.H542H|ARHGEF10L_ENST00000375420.3_Silent_p.H339H	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	581					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTGCCAACCACAGGTACGTGG	0.617													T	17961055	C	T	17961055	2	4	364	1	0	0	0	0	0	0	0	1	898	477	17	2		2	ARHGEF10L	1	17961055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11526	17961055	231289566	189	23691											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17983182	17983182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcaggatgggacccttGctgcttaccctcggaccagc	6	8	12	15	1	0	0	0	0	0	0	1	3	0	3	4	3	5	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:17983182G>A	ENST00000361221.3	+	25	2998	c.2839G>A	c.(2839-2841)Gct>Act	p.A947T	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.A650T|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.A908T|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.A942T|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.A720T|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.A908T	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	947					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGGGACCCTTGCTGCTTACCC	0.647													A	17983182	G	A	17983182	3	1	364	1	0	0	0	0	1	0	0	0	898	1319	46	2	2933	2	ARHGEF10L	1	17983182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22127	17983182	231267439	190	23692											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18021739	18021739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggtgtcatcgtcctgctgCccgtgcctcggctggaaggc	4	9	15	13	3	1	0	1	0	0	0	4	1	2	1	3	4	3	2	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18021739C>T	ENST00000361221.3	+	28	3430	c.3271C>T	c.(3271-3273)Ccc>Tcc	p.P1091S	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.P794S|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.P1052S|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.P864S|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.P1052S	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1091					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CGTCCTGCTGCCCGTGCCTCG	0.627													T	18021739	C	T	18021739	3	4	364	1	0	0	0	0	1	0	0	0	898	739	26	2	3377	2	ARHGEF10L	1	18021739	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38557	18021739	231228882	191	23693											
ARHGEF10L	55160	broad.mit.edu	37	chr1	18023646	18023646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcagctttggagcacaGcgaggaggacggctccattt	8	8	15	10	3	0	0	0	0	0	0	1	4	1	3	1	5	3	4	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18023646G>A	ENST00000361221.3	+	29	3770	c.3611G>A	c.(3610-3612)aGc>aAc	p.S1204N	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.S907N|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.S1165N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.S977N|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.S1165N	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	1204					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TTGGAGCACAGCGAGGAGGAC	0.687													A	18023646	G	A	18023646	3	1	364	1	0	0	0	0	1	0	0	0	898	971	34	2	3721	2	ARHGEF10L	1	18023646	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1907	18023646	231226975	192	23694											
ACTL8	81569	broad.mit.edu	37	chr1	18149677	18149677	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctgggcatcgacatttgCcatcctgacacctttagcta	9	11	8	13	1	0	1	0	1	0	0	2	2	1	1	4	1	3	2	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18149677C>T	ENST00000375406.1	+	2	390	c.174C>T	c.(172-174)tgC>tgT	p.C58C		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	58						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		TCGACATTTGCCATCCTGACA	0.582													T	18149677	C	T	18149677	2	4	364	1	0	0	0	0	0	0	0	1	202	747	26	2		2	ACTL8	1	18149677	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126031	18149677	231100944	193	23695											
IGSF21	84966	broad.mit.edu	37	chr1	18692015	18692015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccccgctgggtccacaGcgccgagcccacctacttcc	5	8	9	19	3	0	0	0	0	0	0	3	1	3	0	7	1	3	2	7	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18692015G>A	ENST00000251296.1	+	6	1222	c.839G>A	c.(838-840)aGc>aAc	p.S280N		NM_032880.4	NP_116269.3	Q96ID5	IGS21_HUMAN	immunoglobin superfamily, member 21	280						extracellular region				endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	40		Colorectal(325;0.000147)|Renal(390;0.00145)|all_lung(284;0.00366)|Lung NSC(340;0.00376)|Breast(348;0.00387)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0121)|BRCA - Breast invasive adenocarcinoma(304;5.52e-05)|Kidney(64;0.00103)|KIRC - Kidney renal clear cell carcinoma(64;0.0102)|STAD - Stomach adenocarcinoma(196;0.0118)|READ - Rectum adenocarcinoma(331;0.157)		TGGGTCCACAGCGCCGAGCCC	0.637													A	18692015	G	A	18692015	3	1	364	1	0	0	0	0	1	0	0	0	7657	971	34	2	861	2	IGSF21	1	18692015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	542338	18692015	230558606	194	23696											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809726	18809726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtttgtgcccaaggagctgCggagtttcccggccccgcag	5	8	15	13	3	0	0	0	0	0	0	1	2	1	2	4	4	3	4	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:18809726C>T	ENST00000400664.1	+	1	2303	c.2251C>T	c.(2251-2253)Cgg>Tgg	p.R751W		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	751						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGGAGCTGCGGAGTTTCCC	0.647													T	18809726	C	T	18809726	3	4	364	1	0	0	0	0	1	0	0	0	8418	759	27	1	2253	1	KLHDC7A	1	18809726	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117711	18809726	230440895	195	23697											
PAX7	5081	broad.mit.edu	37	chr1	19029660	19029660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagggcgggctggctgcagCggctgcagccgccgacacca	6	3	16	16	4	0	0	0	0	0	0	0	1	0	0	4	4	4	5	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19029660C>T	ENST00000420770.2	+	7	1108	c.1025C>T	c.(1024-1026)gCg>gTg	p.A342V	PAX7_ENST00000375375.3_Missense_Mutation_p.A342V|PAX7_ENST00000400661.3_Missense_Mutation_p.A340V	NM_001135254.1	NP_001128726.1	P23759	PAX7_HUMAN	paired box 7	342	Poly-Ala.				anti-apoptosis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX7/FOXO1(197)	breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)	31		Colorectal(325;3.46e-05)|all_lung(284;0.000439)|Renal(390;0.000518)|Lung NSC(340;0.000543)|Breast(348;0.00093)|Ovarian(437;0.00768)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00609)|BRCA - Breast invasive adenocarcinoma(304;4.71e-05)|Kidney(64;0.000279)|KIRC - Kidney renal clear cell carcinoma(64;0.00371)|STAD - Stomach adenocarcinoma(196;0.00658)|READ - Rectum adenocarcinoma(331;0.0576)		CTGGCTGCAGCGGCTGCAGCC	0.657			T	FOXO1A	alveolar rhabdomyosarcoma								T	19029660	C	T	19029660	3	4	364	1	0	0	0	0	1	0	0	0	11560	768	27	1	1051	1	PAX7	1	19029660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219934	19029660	230220961	196	23698											
TAS1R2	80834	broad.mit.edu	37	chr1	19166109	19166109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcactagtccctcctcatgGtgtagccctggatcatgctg	6	11	11	13	0	2	0	2	0	0	0	4	1	4	1	3	3	2	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19166109G>A	ENST00000375371.3	-	6	2525	c.2504C>T	c.(2503-2505)aCc>aTc	p.T835I		NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	835					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	CCTCCTCATGGTGTAGCCCTG	0.622													A	19166109	G	A	19166109	3	1	364	1	0	0	0	0	1	0	0	0	15660	1261	44	2	19	2	TAS1R2	1	19166109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136449	19166109	230084512	197	23699											
ALDH4A1	8659	broad.mit.edu	37	chr1	19202874	19202874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccacaaagtagcccaCggagtcatcacacttgcccc	10	6	9	16	1	2	0	2	0	0	0	3	1	3	1	4	2	2	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19202874C>T	ENST00000375341.3	-	12	1530	c.1273G>A	c.(1273-1275)Gtg>Atg	p.V425M	RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000538309.1_Missense_Mutation_p.V365M|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.V425M|ALDH4A1_ENST00000538839.1_Intron	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	425					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	AAGTAGCCCACGGAGTCATCA	0.637													T	19202874	C	T	19202874	3	4	364	1	0	0	0	0	1	0	0	0	501	536	19	1	434	1	ALDH4A1	1	19202874	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36765	19202874	230047747	198	23700											
UBR4	23352	broad.mit.edu	37	chr1	19403375	19403375	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaggaccagcctccctCtgtgttactggtaggcacct	8	9	11	13	0	1	1	0	0	1	1	2	2	2	2	4	3	3	4	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19403375C>A	ENST00000375267.2	-	106	15412	c.15409G>T	c.(15409-15411)Gag>Tag	p.E5137*	UBR4_ENST00000375254.3_Nonsense_Mutation_p.E5116*|UBR4_ENST00000375226.2_Nonsense_Mutation_p.E5092*|UBR4_ENST00000375224.1_Nonsense_Mutation_p.E823*|UBR4_ENST00000543981.1_Nonsense_Mutation_p.E780*|UBR4_ENST00000429347.2_Nonsense_Mutation_p.E639*|UBR4_ENST00000375217.2_Nonsense_Mutation_p.E5109*|UBR4_ENST00000375225.3_Nonsense_Mutation_p.E191*			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	5116					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCTCCCTCTGTGTTACTG	0.542													A	19403375	C	A	19403375	4	1	364	1	0	0	0	0	0	1	0	0	17006	922	32	4	213	4	UBR4	1	19403375	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200501	19403375	229847246	199	23701											
UBR4	23352	broad.mit.edu	37	chr1	19415397	19415397	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaggttctctgccaaGgtcccaatgccctcatcact	8	10	7	16	0	3	0	2	0	1	0	6	0	5	0	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19415397G>T	ENST00000375267.2	-	98	14289	c.14286C>A	c.(14284-14286)acC>acA	p.T4762T	UBR4_ENST00000375254.3_Silent_p.T4762T|UBR4_ENST00000375226.2_Silent_p.T4738T|UBR4_ENST00000375224.1_Silent_p.T469T|UBR4_ENST00000543981.1_Silent_p.T426T|UBR4_ENST00000429347.2_Silent_p.T285T|UBR4_ENST00000375217.2_Silent_p.T4755T			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	4762					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCTCTGCCAAGGTCCCAATGC	0.567													T	19415397	G	T	19415397	2	4	364	1	0	0	0	0	0	0	0	1	17006	987	35	4		4	UBR4	1	19415397	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12022	19415397	229835224	200	23702											
UBR4	23352	broad.mit.edu	37	chr1	19441364	19441364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagcaaggcttggcatagaGcatgaagtcgaagcgggcat	13	6	14	8	2	0	2	0	1	0	1	1	3	0	2	0	3	3	5	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19441364G>T	ENST00000375267.2	-	75	11146	c.11143C>A	c.(11143-11145)Ctc>Atc	p.L3715I	UBR4_ENST00000375254.3_Missense_Mutation_p.L3715I|UBR4_ENST00000375226.2_Missense_Mutation_p.L3691I|UBR4_ENST00000375217.2_Missense_Mutation_p.L3708I|UBR4_ENST00000375218.3_Missense_Mutation_p.L130I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3715					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTGGCATAGAGCATGAAGTCG	0.507													T	19441364	G	T	19441364	3	4	364	1	0	0	0	0	1	0	0	0	17006	971	34	4	4536	4	UBR4	1	19441364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25967	19441364	229809257	201	23703											
UBR4	23352	broad.mit.edu	37	chr1	19443764	19443764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttcggttgttataatacaGgttgatggtccgcaccatct	8	14	11	8	2	1	1	0	1	1	0	3	1	2	1	2	4	1	5	2	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19443764G>T	ENST00000375267.2	-	73	10777	c.10774C>A	c.(10774-10776)Ctg>Atg	p.L3592M	UBR4_ENST00000375254.3_Missense_Mutation_p.L3592M|UBR4_ENST00000375226.2_Missense_Mutation_p.L3568M|UBR4_ENST00000375217.2_Missense_Mutation_p.L3585M|UBR4_ENST00000375218.3_Missense_Mutation_p.L7M			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3592					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TTATAATACAGGTTGATGGTC	0.517													T	19443764	G	T	19443764	3	4	364	1	0	0	0	0	1	0	0	0	17006	991	35	4	4913	4	UBR4	1	19443764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2400	19443764	229806857	202	23704											
UBR4	23352	broad.mit.edu	37	chr1	19446192	19446192	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgttgagatttgctggaAtttctgtggatatatgacag	9	16	11	5	0	1	2	0	2	1	1	2	5	2	4	1	2	1	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19446192A>C	ENST00000375267.2	-	70	10317	c.10314T>G	c.(10312-10314)aaT>aaG	p.N3438K	UBR4_ENST00000375254.3_Missense_Mutation_p.N3438K|UBR4_ENST00000375226.2_Missense_Mutation_p.N3414K|UBR4_ENST00000375217.2_Missense_Mutation_p.N3431K			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3438					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ATTTGCTGGAATTTCTGTGGA	0.488													C	19446192	A	C	19446192	3	2	364	1	0	0	0	0	1	0	0	0	17006	98	4	5	5385	5	UBR4	1	19446192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2428	19446192	229804429	203	23705											
UBR4	23352	broad.mit.edu	37	chr1	19464554	19464554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccttctccctcggaGccatctccctcctggtgccc	2	12	6	21	1	3	0	0	0	3	0	8	1	4	1	7	2	2	0	7	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19464554G>A	ENST00000375267.2	-	60	8856	c.8853C>T	c.(8851-8853)ggC>ggT	p.G2951G	UBR4_ENST00000375254.3_Silent_p.G2951G|UBR4_ENST00000375226.2_Silent_p.G2927G|UBR4_ENST00000375217.2_Silent_p.G2944G			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2951					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ctccctcGGAGCCATCTCCCT	0.557													A	19464554	G	A	19464554	2	1	364	1	0	0	0	0	0	0	0	1	17006	958	34	2		2	UBR4	1	19464554	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18362	19464554	229786067	204	23706											
UBR4	23352	broad.mit.edu	37	chr1	19493516	19493516	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttctccatcaggctcacCtgttaggatctgcatgattg	7	14	9	11	0	4	1	2	1	2	0	5	2	4	2	2	2	1	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19493516C>A	ENST00000375267.2	-	29	4112	c.4109G>T	c.(4108-4110)aGt>aTt	p.S1370I	UBR4_ENST00000375254.3_Splice_Site_p.S1370I|UBR4_ENST00000375226.2_Splice_Site_p.S1370I|UBR4_ENST00000375217.2_Splice_Site_p.S1370I			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	1370					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TCAGGCTCACCTGTTAGGATC	0.443													A	19493516	C	A	19493516	5	1	364	1	0	0	0	0	0	0	1	0	17006	695	24	4	11754	4	UBR4	1	19493516	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28962	19493516	229757105	205	23707											
UBR4	23352	broad.mit.edu	37	chr1	19503154	19503154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagagaggagtggttgccCggcggctgttgctgtcctgg	5	10	18	8	2	0	1	0	0	0	1	1	4	1	2	2	5	2	4	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19503154C>T	ENST00000375267.2	-	20	2708	c.2705G>A	c.(2704-2706)cGg>cAg	p.R902Q	UBR4_ENST00000375254.3_Missense_Mutation_p.R902Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R902Q|UBR4_ENST00000375217.2_Missense_Mutation_p.R902Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	902					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGTGGTTGCCCGGCGGCTGTT	0.428													T	19503154	C	T	19503154	3	4	364	1	0	0	0	0	1	0	0	0	17006	652	23	1	13194	1	UBR4	1	19503154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9638	19503154	229747467	206	23708											
AKR7A3	22977	broad.mit.edu	37	chr1	19609371	19609371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatgcccaggatgaccgCgtccccgtgggcaccctgca	7	5	13	16	3	0	1	0	1	0	0	1	3	1	3	5	3	2	2	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19609371C>T	ENST00000361640.4	-	7	1390	c.850G>A	c.(850-852)Gcg>Acg	p.A284T		NM_012067.2	NP_036199.2	O95154	ARK73_HUMAN	aldo-keto reductase family 7, member A3 (aflatoxin aldehyde reductase)	284					cellular aldehyde metabolic process	cytosol	aldo-keto reductase (NADP) activity|electron carrier activity			NS(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)	13		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;1.78e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|GBM - Glioblastoma multiforme(114;0.00276)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGGATGACCGCGTCCCCGTGG	0.642													T	19609371	C	T	19609371	3	4	364	1	0	0	0	0	1	0	0	0	476	768	27	1	149	1	AKR7A3	1	19609371	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106217	19609371	229641250	207	23709											
AKR7A2	8574	broad.mit.edu	37	chr1	19635124	19635124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcccaagggttggccttgGtggcaattttcacttggaga	8	12	12	9	0	1	1	1	0	0	1	2	2	2	1	2	5	0	2	2	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19635124G>A	ENST00000235835.3	-	2	332	c.311C>T	c.(310-312)aCc>aTc	p.T104I		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	104					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTTGGCCTTGGTGGCAATTTT	0.478													A	19635124	G	A	19635124	3	1	364	1	0	0	0	0	1	0	0	0	475	1261	44	2	792	2	AKR7A2	1	19635124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25753	19635124	229615497	208	23710											
CAPZB	832	broad.mit.edu	37	chr1	19712004	19712004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatgagctcacctataGgagtccccatctctgttgta	8	11	11	11	0	2	1	1	1	1	0	4	2	3	2	3	3	1	4	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:19712004G>A	ENST00000264203.3	-	4	781	c.288C>T	c.(286-288)tcC>tcT	p.S96S	CAPZB_ENST00000482808.1_5'UTR|CAPZB_ENST00000375144.1_Silent_p.S58S|CAPZB_ENST00000375142.1_Silent_p.S70S|CAPZB_ENST00000401084.2_Silent_p.S70S|CAPZB_ENST00000433834.1_Silent_p.S99S|CAPZB_ENST00000264202.6_Silent_p.S70S	NM_001206541.2	NP_001193470.1	P47756	CAPZB_HUMAN	capping protein (actin filament) muscle Z-line, beta	70					actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement	cytosol|F-actin capping protein complex|WASH complex	actin binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Colorectal(325;3.93e-05)|Renal(390;0.000147)|all_lung(284;0.000169)|Lung NSC(340;0.000202)|Breast(348;0.000496)|Ovarian(437;0.00428)|Myeloproliferative disorder(586;0.0262)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Kidney(64;8.63e-06)|BRCA - Breast invasive adenocarcinoma(304;4.06e-05)|KIRC - Kidney renal clear cell carcinoma(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000525)|STAD - Stomach adenocarcinoma(196;0.00779)|READ - Rectum adenocarcinoma(331;0.103)|Lung(427;0.173)		CTCACCTATAGGAGTCCCCAT	0.567													A	19712004	G	A	19712004	2	1	364	1	0	0	0	0	0	0	0	1	2669	987	35	2		2	CAPZB	1	19712004	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76880	19712004	229538617	209	23711											
TMCO4	255104	broad.mit.edu	37	chr1	20097881	20097881	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatctgctccttcacctcCcaggccgctcgcaaaagcag	9	7	7	18	2	2	0	1	0	1	0	5	0	4	0	4	1	2	4	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20097881C>A	ENST00000294543.6	-	5	515	c.274G>T	c.(274-276)Gga>Tga	p.G92*	TMCO4_ENST00000375122.2_Nonsense_Mutation_p.G92*|TMCO4_ENST00000375127.1_Nonsense_Mutation_p.G92*	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	92						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CCTTCACCTCCCAGGCCGCTC	0.537													A	20097881	C	A	20097881	4	1	364	1	0	0	0	0	0	1	0	0	16098	632	22	4	1678	4	TMCO4	1	20097881	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	385877	20097881	229152740	210	23712											
OTUD3	23252	broad.mit.edu	37	chr1	20224082	20224082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagttacacatcgcatatcGgtatggagagcactacgaca	13	8	11	9	3	0	1	0	0	0	1	2	4	0	2	0	3	3	4	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20224082G>A	ENST00000375120.3	+	4	534	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	OTUD3_ENST00000466697.1_3'UTR	NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	178	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ATCGCATATCGGTATGGAGAG	0.507													A	20224082	G	A	20224082	3	1	364	1	0	0	0	0	1	0	0	0	11389	1116	39	1	547	1	OTUD3	1	20224082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126201	20224082	229026539	211	23713											
OTUD3	23252	broad.mit.edu	37	chr1	20231450	20231450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatctgcaataattgccGtgcttcggatgaaccaaggg	11	11	11	8	2	1	2	0	2	1	0	2	3	1	3	2	2	4	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20231450G>A	ENST00000375120.3	+	6	806	c.805G>A	c.(805-807)Gtg>Atg	p.V269M		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	269										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATTGCCGTGCTTCGGAT	0.299													A	20231450	G	A	20231450	3	1	364	1	0	0	0	0	1	0	0	0	11389	1145	40	1	827	1	OTUD3	1	20231450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7368	20231450	229019171	212	23714											
OTUD3	23252	broad.mit.edu	37	chr1	20234222	20234222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttggtgaagaccttcGccgctctcaacatctgactc	8	11	7	15	2	3	3	2	2	2	1	6	3	3	3	3	1	1	1	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20234222G>A	ENST00000375120.3	+	8	1181	c.1180G>A	c.(1180-1182)Gcc>Acc	p.A394T		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	394										breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAAGACCTTCGCCGCTCTCAA	0.542													A	20234222	G	A	20234222	3	1	364	1	0	0	0	0	1	0	0	0	11389	1087	38	1	1210	1	OTUD3	1	20234222	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2772	20234222	229016399	213	23715											
PLA2G5	5322	broad.mit.edu	37	chr1	20412576	20412576	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacatgggctatcttccagGtgtgcctgctgtgcaaggag	7	10	15	9	0	1	0	0	0	1	0	2	2	2	2	2	4	3	3	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20412576G>A	ENST00000375108.3	+	3	309	c.41G>A	c.(40-42)aGt>aAt	p.S14N	PLA2G5_ENST00000486277.1_3'UTR	NM_000929.2	NP_000920.1	P39877	PA2G5_HUMAN	phospholipase A2, group V	14					lipid catabolic process	extracellular region	calcium ion binding|calcium-dependent phospholipase A2 activity			NS(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000249)|Lung NSC(340;0.000287)|Breast(348;0.000812)|Ovarian(437;0.00328)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;8.15e-05)|Kidney(64;0.000184)|GBM - Glioblastoma multiforme(114;0.00089)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0652)		TATCTTCCAGGTGTGCCTGCT	0.572													A	20412576	G	A	20412576	5	1	364	1	0	0	0	0	0	0	1	0	12084	1275	44	2	47	2	PLA2G5	1	20412576	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	178354	20412576	228838045	214	23716											
UBXN10	127733	broad.mit.edu	37	chr1	20517755	20517755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccgaacagaaaaacaaaaCctcctaccgacactgcagca	17	3	7	14	2	0	1	0	0	0	1	1	3	1	1	4	1	6	2	4	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20517755C>T	ENST00000375099.3	+	2	785	c.701C>T	c.(700-702)aCc>aTc	p.T234I		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	234	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						AAAAACAAAACCTCCTACCGA	0.488													T	20517755	C	T	20517755	3	4	364	1	0	0	0	0	1	0	0	0	17014	507	18	2	703	2	UBXN10	1	20517755	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105179	20517755	228732866	215	23717											
PINK1	65018	broad.mit.edu	37	chr1	20964524	20964524	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagcaccgggttgcttccaGggagaggcccaggtaccagt	9	6	15	11	1	0	2	0	0	0	2	1	3	1	2	4	4	3	4	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:20964524G>T	ENST00000321556.4	+	2	671	c.577G>T	c.(577-579)Ggg>Tgg	p.G193W		NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	193	Protein kinase.				cell death|intracellular protein kinase cascade|mitochondrion degradation|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of release of cytochrome c from mitochondria|regulation of protein complex assembly|regulation of protein ubiquitination|response to stress	cytosol|integral to membrane|mitochondrial outer membrane	ATP binding|C3HC4-type RING finger domain binding|calcium-dependent protein kinase activity|magnesium ion binding|protein serine/threonine kinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GTTGCTTCCAGGGAGAGGCCC	0.602													T	20964524	G	T	20964524	3	4	364	1	0	0	0	0	1	0	0	0	12009	1000	35	4	583	4	PINK1	1	20964524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	446769	20964524	228286097	216	23718											
KIF17	57576	broad.mit.edu	37	chr1	21016709	21016709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccgcaggttctcctccagCgtggacagcctgacgtcata	7	10	10	14	3	2	1	1	1	1	0	5	2	4	2	4	2	2	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21016709C>T	ENST00000247986.2	-	7	1663	c.1353G>A	c.(1351-1353)acG>acA	p.T451T	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000400463.3_Silent_p.T451T|KIF17_ENST00000375044.1_Silent_p.T351T			Q9P2E2	KIF17_HUMAN	kinesin family member 17	451					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.T451T(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTCCTCCAGCGTGGACAGCC	0.627													T	21016709	C	T	21016709	2	4	364	1	0	0	0	0	0	0	0	1	8337	755	27	1		1	KIF17	1	21016709	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52185	21016709	228233912	217	23719											
KIF17	57576	broad.mit.edu	37	chr1	21031096	21031096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtagcgcagcgtgctgaGtgtctcatcgtagttgttgt	5	13	15	8	4	1	1	1	1	1	0	3	1	1	1	0	1	3	6	0	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031096G>T	ENST00000247986.2	-	5	1277	c.967C>A	c.(967-969)Ctc>Atc	p.L323I	KIF17_ENST00000400463.3_Missense_Mutation_p.L323I|KIF17_ENST00000375044.1_Missense_Mutation_p.L223I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	323					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		AGCGTGCTGAGTGTCTCATCG	0.617													T	21031096	G	T	21031096	3	4	364	1	0	0	0	0	1	0	0	0	8337	1029	36	4	2166	4	KIF17	1	21031096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14387	21031096	228219525	218	23720											
KIF17	57576	broad.mit.edu	37	chr1	21031210	21031210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgagtcacggtaggggaCgtgcttacagcgcccgtcca	7	8	13	13	5	1	0	1	0	0	0	3	2	2	1	2	3	3	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21031210C>T	ENST00000247986.2	-	5	1163	c.853G>A	c.(853-855)Gtc>Atc	p.V285I	KIF17_ENST00000400463.3_Missense_Mutation_p.V285I|KIF17_ENST00000375044.1_Missense_Mutation_p.V185I			Q9P2E2	KIF17_HUMAN	kinesin family member 17	285					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	p.V285I(1)		NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		CGGTAGGGGACGTGCTTACAG	0.652													T	21031210	C	T	21031210	3	4	364	1	0	0	0	0	1	0	0	0	8337	536	19	1	2280	1	KIF17	1	21031210	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	21031210	228219411	219	23721											
EIF4G3	8672	broad.mit.edu	37	chr1	21137325	21137325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaggtacttgagtaagatCggcactctctgcttgataac	10	13	9	9	1	2	3	0	2	2	1	4	3	2	3	0	2	3	4	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21137325C>T	ENST00000602326.1	-	34	5083	c.4500G>A	c.(4498-4500)ccG>ccA	p.P1500P	EIF4G3_ENST00000400422.1_Silent_p.P1494P|EIF4G3_ENST00000537738.1_Silent_p.P984P|EIF4G3_ENST00000536266.1_Silent_p.P1098P|EIF4G3_ENST00000264211.8_Silent_p.P1494P|EIF4G3_ENST00000374935.3_Silent_p.P1214P|EIF4G3_ENST00000374937.3_Silent_p.P1500P	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1494	EIF4A-binding (By similarity).|W2.				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		TGAGTAAGATCGGCACTCTCT	0.413													T	21137325	C	T	21137325	2	4	364	1	0	0	0	0	0	0	0	1	5079	871	31	1		1	EIF4G3	1	21137325	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106115	21137325	228113296	220	23722											
EIF4G3	8672	broad.mit.edu	37	chr1	21191064	21191064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggttctttagcagcttcaCcacacagtcatgcatgatgg	10	12	9	10	0	3	1	2	1	1	0	3	1	3	1	1	2	3	4	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21191064C>T	ENST00000602326.1	-	20	3344	c.2761G>A	c.(2761-2763)Gtg>Atg	p.V921M	EIF4G3_ENST00000400422.1_Missense_Mutation_p.V915M|EIF4G3_ENST00000537738.1_Missense_Mutation_p.V405M|EIF4G3_ENST00000536266.1_Missense_Mutation_p.V519M|EIF4G3_ENST00000264211.8_Missense_Mutation_p.V915M|EIF4G3_ENST00000374935.3_Missense_Mutation_p.V635M|EIF4G3_ENST00000374937.3_Missense_Mutation_p.V921M	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	915	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		AGCAGCTTCACCACACAGTCA	0.458													T	21191064	C	T	21191064	3	4	364	1	0	0	0	0	1	0	0	0	5079	507	18	2	2078	2	EIF4G3	1	21191064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53739	21191064	228059557	221	23723											
ECE1	1889	broad.mit.edu	37	chr1	21551875	21551875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtctgacgcttgaaggcCtccacggatgagttcttcca	7	11	11	12	3	2	3	0	3	2	0	5	4	4	4	3	3	0	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21551875C>A	ENST00000415912.2	-	17	1985	c.1860G>T	c.(1858-1860)gaG>gaT	p.E620D	ECE1_ENST00000357071.4_Missense_Mutation_p.E624D|ECE1_ENST00000374893.6_Missense_Mutation_p.E636D|ECE1_ENST00000264205.6_Missense_Mutation_p.E633D|ECE1_ENST00000436918.2_Missense_Mutation_p.E636D	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	636					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		GCTTGAAGGCCTCCACGGATG	0.622													A	21551875	C	A	21551875	3	1	364	1	0	0	0	0	1	0	0	0	4928	680	24	4	416	4	ECE1	1	21551875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	360811	21551875	227698746	222	23724											
ECE1	1889	broad.mit.edu	37	chr1	21585273	21585273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtagtgggcggtgaccacCtgcagggtgtcctggaagtt	6	9	17	9	2	0	1	0	1	0	0	1	2	1	2	3	5	1	3	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21585273C>A	ENST00000415912.2	-	6	752	c.627G>T	c.(625-627)caG>caT	p.Q209H	ECE1_ENST00000357071.4_Missense_Mutation_p.Q213H|ECE1_ENST00000374893.6_Missense_Mutation_p.Q225H|ECE1_ENST00000264205.6_Missense_Mutation_p.Q222H|ECE1_ENST00000436918.2_Missense_Mutation_p.Q225H	NM_001113348.1	NP_001106819.1	P42892	ECE1_HUMAN	endothelin converting enzyme 1	225					bradykinin catabolic process|calcitonin catabolic process|ear development|embryonic digit morphogenesis|endothelin maturation|heart development|positive regulation of receptor recycling|substance P catabolic process	early endosome|external side of plasma membrane|integral to membrane|intrinsic to endosome membrane|membrane fraction|perinuclear region of cytoplasm|plasma membrane|Weibel-Palade body	metal ion binding|metalloendopeptidase activity|protein homodimerization activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	25		Lung NSC(340;1.14e-05)|all_lung(284;1.23e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00147)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0183)|OV - Ovarian serous cystadenocarcinoma(117;4.83e-27)|COAD - Colon adenocarcinoma(152;1.36e-06)|GBM - Glioblastoma multiforme(114;1.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000162)|STAD - Stomach adenocarcinoma(196;0.00326)|KIRC - Kidney renal clear cell carcinoma(1967;0.00755)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.206)		CGGTGACCACCTGCAGGGTGT	0.602													A	21585273	C	A	21585273	3	1	364	1	0	0	0	0	1	0	0	0	4928	680	24	4	1693	4	ECE1	1	21585273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33398	21585273	227665348	223	23725											
NBPF3	84224	broad.mit.edu	37	chr1	21800061	21800061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgatgaatggttggatgCtgtatgcattatcccaggta	10	14	11	6	0	1	2	1	2	0	0	2	3	2	3	1	3	2	5	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21800061C>T	ENST00000318220.6	+	10	1803	c.755C>T	c.(754-756)gCt>gTt	p.A252V	NBPF3_ENST00000342104.5_Missense_Mutation_p.A308V|NBPF3_ENST00000454000.2_Missense_Mutation_p.A238V|NBPF3_ENST00000318249.5_Missense_Mutation_p.A308V			Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	308	NBPF 1.					cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGGTTGGATGCTGTATGCATT	0.443													T	21800061	C	T	21800061	3	4	364	1	0	0	0	0	1	0	0	0	10273	797	28	2	945	2	NBPF3	1	21800061	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214788	21800061	227450560	224	23726											
RAP1GAP	5909	broad.mit.edu	37	chr1	21930309	21930309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagcctccagagccggCggccccgcggacgacaacct	8	2	13	18	5	0	1	0	0	0	1	1	3	1	2	6	4	3	1	6	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21930309C>T	ENST00000374763.2	-	16	1533	c.1525G>A	c.(1525-1527)Gcc>Acc	p.A509T	RAP1GAP_ENST00000374765.4_Intron|RAP1GAP_ENST00000290101.4_Intron|RAP1GAP_ENST00000542643.2_Intron|RAP1GAP_ENST00000374761.2_Intron			P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	515					regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCAGAGCCGGCGGCCCCGCGG	0.647													T	21930309	C	T	21930309	3	4	364	1	0	0	0	0	1	0	0	0	13125	783	27	1		1	RAP1GAP	1	21930309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130248	21930309	227320312	225	23727											
RAP1GAP	5909	broad.mit.edu	37	chr1	21937987	21937987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggcagcttggtggacacGtgaaacatgatctccttgtt	9	13	11	8	1	1	2	0	2	1	0	2	3	1	3	1	3	2	3	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21937987G>A	ENST00000542643.2	-	14	1103	c.801C>T	c.(799-801)caC>caT	p.H267H	RAP1GAP_ENST00000374765.4_Silent_p.H267H|RAP1GAP_ENST00000290101.4_Silent_p.H331H|RAP1GAP_ENST00000374761.2_Silent_p.H298H|RAP1GAP_ENST00000374763.2_Silent_p.H267H	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	267	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		TGGTGGACACGTGAAACATGA	0.642													A	21937987	G	A	21937987	2	1	364	1	0	0	0	0	0	0	0	1	13125	1136	40	1		1	RAP1GAP	1	21937987	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7678	21937987	227312634	226	23728											
RAP1GAP	5909	broad.mit.edu	37	chr1	21938056	21938056	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtctgcccgtgggtcacGtccaggcctcctcggaacct	4	8	11	18	4	2	0	1	0	1	0	5	1	4	1	6	3	2	0	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21938056G>A	ENST00000542643.2	-	14	1034	c.732C>T	c.(730-732)gaC>gaT	p.D244D	RAP1GAP_ENST00000374765.4_Silent_p.D244D|RAP1GAP_ENST00000290101.4_Silent_p.D308D|RAP1GAP_ENST00000374761.2_Silent_p.D275D|RAP1GAP_ENST00000374763.2_Silent_p.D244D	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	244	Rap-GAP.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CGTGGGTCACGTCCAGGCCTC	0.662													A	21938056	G	A	21938056	2	1	364	1	0	0	0	0	0	0	0	1	13125	1136	40	1		1	RAP1GAP	1	21938056	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	21938056	227312565	227	23729											
RAP1GAP	5909	broad.mit.edu	37	chr1	21946512	21946512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagccatcctcacctgcAtcttctcaatcatctcaaat	12	11	3	15	0	5	1	4	0	3	1	8	1	6	1	3	0	2	1	3	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:21946512A>G	ENST00000542643.2	-	5	316	c.14T>C	c.(13-15)aTg>aCg	p.M5T	RAP1GAP_ENST00000374765.4_Missense_Mutation_p.M5T|RAP1GAP_ENST00000290101.4_Missense_Mutation_p.M69T|RAP1GAP_ENST00000374761.2_Missense_Mutation_p.M36T|RAP1GAP_ENST00000374763.2_Missense_Mutation_p.M5T|RAP1GAP_ENST00000374757.3_5'UTR	NM_001145657.1	NP_001139129.1	P47736	RPGP1_HUMAN	RAP1 GTPase activating protein	5	GoLoco.				regulation of Ras GTPase activity|signal transduction	cytosol|Golgi membrane|membrane fraction	GTPase activator activity|GTPase activity|protein homodimerization activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	17		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000861)|all_lung(284;0.000901)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;2.3e-26)|COAD - Colon adenocarcinoma(152;1.59e-05)|GBM - Glioblastoma multiforme(114;2.7e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000354)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00862)|READ - Rectum adenocarcinoma(331;0.0625)|Lung(427;0.146)		CCTCACCTGCATCTTCTCAAT	0.617													G	21946512	A	G	21946512	3	3	364	1	0	0	0	0	1	0	0	0	13125	217	8	3	2143	3	RAP1GAP	1	21946512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8456	21946512	227304109	228	23730											
USP48	84196	broad.mit.edu	37	chr1	22047590	22047590	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcatcaccatcttgctcAtccagctgttcaagagctag	9	12	7	13	0	5	1	3	0	2	1	6	1	6	1	2	0	4	5	2	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22047590A>G	ENST00000308271.9	-	14	2481	c.1833T>C	c.(1831-1833)gaT>gaC	p.D611D	USP48_ENST00000529637.1_Silent_p.D610D|USP48_ENST00000400301.1_Silent_p.D611D|USP48_ENST00000374732.3_Silent_p.D149D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	611	DUSP 2.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		CATCTTGCTCATCCAGCTGTT	0.438													G	22047590	A	G	22047590	2	3	364	1	0	0	0	0	0	0	0	1	17181	214	8	3		3	USP48	1	22047590	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	101078	22047590	227203031	229	23731											
LDLRAD2	401944	broad.mit.edu	37	chr1	22141118	22141118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcctccccggccccggccGacccgtgcgcccccggctcc	1	4	10	26	6	0	0	0	0	0	0	3	1	3	0	11	3	1	1	11	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22141118G>A	ENST00000344642.2	+	2	500	c.313G>A	c.(313-315)Gac>Aac	p.D105N	LDLRAD2_ENST00000543870.1_Missense_Mutation_p.D105N	NM_001013693.2	NP_001013715.2	Q5SZI1	LRAD2_HUMAN	low density lipoprotein receptor class A domain containing 2	105						integral to membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)	6		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.00166)|all_lung(284;0.00172)|Breast(348;0.012)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;5.2e-26)|COAD - Colon adenocarcinoma(152;1.13e-05)|GBM - Glioblastoma multiforme(114;1.36e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00598)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)		GGCCCCGGCCGACCCGTGCGC	0.756													A	22141118	G	A	22141118	3	1	364	1	0	0	0	0	1	0	0	0	8765	1058	37	1	319	1	LDLRAD2	1	22141118	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93528	22141118	227109503	230	23732											
HSPG2	3339	broad.mit.edu	37	chr1	22155933	22155933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccatcgccagggacacgaAgtcctccacaggcccgctct	9	5	9	18	3	1	0	0	0	1	0	4	2	3	1	5	2	0	1	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22155933A>G	ENST00000374695.3	-	87	12014	c.11935T>C	c.(11935-11937)Ttc>Ctc	p.F3979L	HSPG2_ENST00000486901.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3979	Laminin G-like 2.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGGGACACGAAGTCCTCCACA	0.642													G	22155933	A	G	22155933	3	3	364	1	0	0	0	0	1	0	0	0	7488	72	3	3	1284	3	HSPG2	1	22155933	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14815	22155933	227094688	231	23733											
HSPG2	3339	broad.mit.edu	37	chr1	22162127	22162127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagctctggtccaagttctgGattctataaagaaaaaataa	16	11	7	7	0	3	1	0	0	3	1	4	2	4	2	1	2	1	2	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22162127G>A	ENST00000374695.3	-	76	10438	c.10359C>T	c.(10357-10359)atC>atT	p.I3453I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3453	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CCAAGTTCTGGATTCTATAAA	0.502													A	22162127	G	A	22162127	2	1	364	1	0	0	0	0	0	0	0	1	7488	1164	41	2		2	HSPG2	1	22162127	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6194	22162127	227088494	232	23734											
HSPG2	3339	broad.mit.edu	37	chr1	22168809	22168809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggccgctggctgcaCgacacacatactcgcctgag	7	6	13	15	3	0	1	0	1	0	0	1	2	0	1	3	3	2	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22168809C>T	ENST00000374695.3	-	68	9054	c.8975G>A	c.(8974-8976)cGt>cAt	p.R2992H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2992	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGGCTGCACGACACACATA	0.632													T	22168809	C	T	22168809	3	4	364	1	0	0	0	0	1	0	0	0	7488	536	19	1	4320	1	HSPG2	1	22168809	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6682	22168809	227081812	233	23735											
HSPG2	3339	broad.mit.edu	37	chr1	22181199	22181199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaggtcgagtgtttgccCttctgtcacagaaggcgatg	7	12	14	8	2	2	2	1	1	1	1	3	4	2	2	1	2	1	2	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181199C>A	ENST00000374695.3	-	49	6272	c.6193G>T	c.(6193-6195)Ggg>Tgg	p.G2065W	HSPG2_ENST00000430507.1_Missense_Mutation_p.G15W	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2065	Ig-like C2-type 6.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGTGTTTGCCCTTCTGTCACA	0.642													A	22181199	C	A	22181199	3	1	364	1	0	0	0	0	1	0	0	0	7488	681	24	4	7178	4	HSPG2	1	22181199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12390	22181199	227069422	234	23736											
HSPG2	3339	broad.mit.edu	37	chr1	22181426	22181426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaagccggcgtcagcagtCgtgatggctgggatgagcag	9	7	17	8	3	1	3	1	2	0	1	2	4	1	4	1	3	3	3	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22181426C>T	ENST00000374695.3	-	48	6127	c.6048G>A	c.(6046-6048)acG>acA	p.T2016T	HSPG2_ENST00000430507.1_5'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2016	Ig-like C2-type 5.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CGTCAGCAGTCGTGATGGCTG	0.652													T	22181426	C	T	22181426	2	4	364	1	0	0	0	0	0	0	0	1	7488	871	31	1		1	HSPG2	1	22181426	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	227	22181426	227069195	235	23737											
HSPG2	3339	broad.mit.edu	37	chr1	22188562	22188562	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcatctccgtagtagccaGgggcacaaagctcgcagaac	11	6	12	12	2	1	1	0	0	1	1	3	1	1	1	2	3	3	6	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22188562G>T	ENST00000374695.3	-	38	4866	c.4787C>A	c.(4786-4788)cCt>cAt	p.P1596H		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1596	Laminin EGF-like 10.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTAGTAGCCAGGGGCACAAAG	0.612													T	22188562	G	T	22188562	3	4	364	1	0	0	0	0	1	0	0	0	7488	1000	35	4	8628	4	HSPG2	1	22188562	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7136	22188562	227062059	236	23738											
HSPG2	3339	broad.mit.edu	37	chr1	22200957	22200957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcctgtggtgtcccccGctgggcgtccccgtagtatc	3	10	13	15	3	0	0	0	0	0	0	4	0	3	0	5	2	0	4	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22200957G>A	ENST00000374695.3	-	28	3677	c.3598C>T	c.(3598-3600)Cgg>Tgg	p.R1200W		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1200	Laminin EGF-like 6.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGTGTCCCCCGCTGGGCGTCC	0.667													A	22200957	G	A	22200957	3	1	364	1	0	0	0	0	1	0	0	0	7488	1086	38	1	9857	1	HSPG2	1	22200957	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12395	22200957	227049664	237	23739											
CELA3A	10136	broad.mit.edu	37	chr1	22333432	22333432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagatgccgtccagctcGcctcactccctcccgctggt	4	9	11	17	3	1	1	1	0	0	1	5	2	4	1	5	2	2	2	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22333432G>A	ENST00000290122.3	+	5	443	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CGTCCAGCTCGCCTCACTCCC	0.622													A	22333432	G	A	22333432	3	1	364	1	0	0	0	0	1	0	0	0	3243	1087	38	1	442	1	CELA3A	1	22333432	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132475	22333432	226917189	238	23740											
ZBTB40	9923	broad.mit.edu	37	chr1	22828087	22828087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcaaactgttgtgtccCtgttgaggctgtaccaatat	9	15	9	8	0	1	1	1	1	0	0	2	1	2	1	2	1	2	5	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22828087C>A	ENST00000404138.1	+	5	1445	c.934C>A	c.(934-936)Ctg>Atg	p.L312M	ZBTB40_ENST00000375647.4_Missense_Mutation_p.L312M|ZBTB40_ENST00000374651.4_Intron	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	312					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TGTTGTGTCCCTGTTGAGGCT	0.443													A	22828087	C	A	22828087	3	1	364	1	0	0	0	0	1	0	0	0	17643	680	24	4	944	4	ZBTB40	1	22828087	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494655	22828087	226422534	239	23741											
ZBTB40	9923	broad.mit.edu	37	chr1	22848034	22848034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgaacccaccaccctgacGtatttgctgctcagaaccac	11	8	6	16	2	1	2	1	1	0	1	2	3	1	2	4	0	4	3	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22848034G>A	ENST00000404138.1	+	16	3605	c.3094G>A	c.(3094-3096)Gta>Ata	p.V1032I	ZBTB40_ENST00000375647.4_Missense_Mutation_p.V1032I|ZBTB40_ENST00000374651.4_Missense_Mutation_p.V920I	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1032					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		CCACCCTGACGTATTTGCTGC	0.488													A	22848034	G	A	22848034	3	1	364	1	0	0	0	0	1	0	0	0	17643	1145	40	1	3148	1	ZBTB40	1	22848034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19947	22848034	226402587	240	23742											
EPHA8	2046	broad.mit.edu	37	chr1	22902764	22902764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccatccacacgtaccagGtttgcaacgtcatgagcccc	10	7	8	16	2	1	1	1	1	0	0	2	1	2	1	5	1	5	3	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22902764G>A	ENST00000166244.3	+	3	286	c.214G>A	c.(214-216)Gtt>Att	p.V72I	EPHA8_ENST00000538803.1_Missense_Mutation_p.V72I|EPHA8_ENST00000374644.4_Missense_Mutation_p.V72I	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	72						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGTACCAGGTTTGCAACGT	0.602													A	22902764	G	A	22902764	3	1	364	1	0	0	0	0	1	0	0	0	5214	1261	44	2	224	2	EPHA8	1	22902764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54730	22902764	226347857	241	23743											
EPHA8	2046	broad.mit.edu	37	chr1	22903303	22903303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtactgcagcgcggagggCgagtggctcgtgcccatcgg	6	7	17	11	5	0	0	0	0	0	0	2	2	0	1	1	4	4	3	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22903303C>T	ENST00000166244.3	+	3	825	c.753C>T	c.(751-753)ggC>ggT	p.G251G	EPHA8_ENST00000538803.1_Silent_p.G251G|EPHA8_ENST00000374644.4_Silent_p.G251G	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	251	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GCGCGGAGGGCGAGTGGCTCG	0.682													T	22903303	C	T	22903303	2	4	364	1	0	0	0	0	0	0	0	1	5214	755	27	1		1	EPHA8	1	22903303	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	539	22903303	226347318	242	23744											
EPHA8	2046	broad.mit.edu	37	chr1	22927938	22927938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgggcggatactcctctCtgggcatggtgctacgcatg	5	10	14	12	3	1	0	0	0	1	0	3	1	2	1	1	4	4	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22927938C>A	ENST00000166244.3	+	16	2947	c.2875C>A	c.(2875-2877)Ctg>Atg	p.L959M		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	959	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		ATACTCCTCTCTGGGCATGGT	0.711													A	22927938	C	A	22927938	3	1	364	1	0	0	0	0	1	0	0	0	5214	912	32	4	3110	4	EPHA8	1	22927938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24635	22927938	226322683	243	23745											
C1QA	712	broad.mit.edu	37	chr1	22965517	22965517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgaggccagccttctccGccattcggcggaacccccca	7	5	10	19	4	1	0	0	0	1	0	3	2	1	1	8	3	3	0	8	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965517G>A	ENST00000374642.3	+	3	559	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	C1QA_ENST00000402322.1_Missense_Mutation_p.A119T	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	119	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGCCTTCTCCGCCATTCGGCG	0.637													A	22965517	G	A	22965517	3	1	364	1	0	0	0	0	1	0	0	0	1974	1087	38	1	361	1	C1QA	1	22965517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37579	22965517	226285104	244	23746											
C1QA	712	broad.mit.edu	37	chr1	22965859	22965859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaccagggctctgaggccGacagcgtcttcagcggcttc	6	10	12	13	3	3	1	1	1	2	0	4	2	3	1	2	3	3	2	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22965859G>A	ENST00000374642.3	+	3	901	c.697G>A	c.(697-699)Gac>Aac	p.D233N	C1QA_ENST00000402322.1_Missense_Mutation_p.D233N	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	233	C1q.				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CTCTGAGGCCGACAGCGTCTT	0.597													A	22965859	G	A	22965859	3	1	364	1	0	0	0	0	1	0	0	0	1974	1058	37	1	703	1	C1QA	1	22965859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	342	22965859	226284762	245	23747											
C1QB	713	broad.mit.edu	37	chr1	22986052	22986052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcagctgcaccgggcccCcagccatccctggcatcccg	6	5	10	20	2	1	0	1	0	0	0	3	0	3	0	6	2	4	4	6	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22986052C>T	ENST00000509305.1	+	2	443	c.97C>T	c.(97-99)Cca>Tca	p.P33S	C1QB_ENST00000314933.6_Missense_Mutation_p.P35S			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	35					complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CACCGGGCCCCCAGCCATCCC	0.602													T	22986052	C	T	22986052	3	4	364	1	0	0	0	0	1	0	0	0	1975	623	22	2	105	2	C1QB	1	22986052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20193	22986052	226264569	246	23748											
C1QB	713	broad.mit.edu	37	chr1	22987483	22987483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaaggccacccagaaaatCgccttctctgccacaagaac	14	6	6	15	1	1	2	0	0	1	2	3	2	1	2	4	1	3	0	4	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:22987483C>T	ENST00000509305.1	+	3	706	c.360C>T	c.(358-360)atC>atT	p.I120I	C1QB_ENST00000314933.6_Silent_p.I122I			P02746	C1QB_HUMAN	complement component 1, q subcomponent, B chain	122	C1q.				complement activation, classical pathway|innate immune response	collagen|complement component C1 complex				breast(1)|endometrium(2)|large_intestine(1)|lung(9)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.06e-27)|Colorectal(126;1.58e-07)|GBM - Glioblastoma multiforme(114;6.72e-06)|COAD - Colon adenocarcinoma(152;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000551)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.198)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CCCAGAAAATCGCCTTCTCTG	0.617													T	22987483	C	T	22987483	2	4	364	1	0	0	0	0	0	0	0	1	1975	874	31	1		1	C1QB	1	22987483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1431	22987483	226263138	247	23749											
EPHB2	2048	broad.mit.edu	37	chr1	23111440	23111440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccggggcagctgcatcGccaatgcggaagaggtggat	8	6	16	11	3	0	1	0	0	0	1	1	3	0	3	2	5	4	3	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111440G>A	ENST00000400191.3	+	3	700	c.682G>A	c.(682-684)Gcc>Acc	p.A228T	EPHB2_ENST00000374627.1_Missense_Mutation_p.A222T|EPHB2_ENST00000374632.3_Missense_Mutation_p.A228T|EPHB2_ENST00000544305.1_Missense_Mutation_p.A228T|EPHB2_ENST00000374630.3_Missense_Mutation_p.A228T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	228	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		CAGCTGCATCGCCAATGCGGA	0.632													A	23111440	G	A	23111440	3	1	364	1	0	0	0	0	1	0	0	0	5216	1087	38	1	692	1	EPHB2	1	23111440	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123957	23111440	226139181	248	23750											
EPHB2	2048	broad.mit.edu	37	chr1	23111559	23111559	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgttgagaatggcacCgtctgccgaggtaagggcca	9	6	16	10	3	1	1	0	1	1	1	1	4	1	1	4	4	1	3	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23111559C>T	ENST00000400191.3	+	3	819	c.801C>T	c.(799-801)acC>acT	p.T267T	EPHB2_ENST00000374627.1_Silent_p.T261T|EPHB2_ENST00000374632.3_Silent_p.T267T|EPHB2_ENST00000544305.1_Silent_p.T267T|EPHB2_ENST00000374630.3_Silent_p.T267T	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	267	Cys-rich.				axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		AGAATGGCACCGTCTGCCGAG	0.622													T	23111559	C	T	23111559	2	4	364	1	0	0	0	0	0	0	0	1	5216	639	23	1		1	EPHB2	1	23111559	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	23111559	226139062	249	23751											
KDM1A	23028	broad.mit.edu	37	chr1	23381585	23381585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactgtgcttgtccaccgaGttcacagttatttagagcgt	9	14	9	9	2	1	1	1	0	0	1	2	2	2	1	2	0	3	3	2	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23381585G>T	ENST00000400181.4	+	6	918	c.814G>T	c.(814-816)Gtt>Ttt	p.V272F	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.V252F|KDM1A_ENST00000542151.1_Missense_Mutation_p.V272F	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	252	SWIRM.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGTCCACCGAGTTCACAGTTA	0.378													T	23381585	G	T	23381585	3	4	364	1	0	0	0	0	1	0	0	0	8180	1029	36	4	836	4	KDM1A	1	23381585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270026	23381585	225869036	250	23752											
KDM1A	23028	broad.mit.edu	37	chr1	23385652	23385652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccactttatgaagccaacGgacaagctgtaagtcgagga	13	7	11	10	2	0	1	0	1	0	0	1	4	0	3	2	2	3	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23385652G>A	ENST00000400181.4	+	9	1263	c.1159G>A	c.(1159-1161)Gga>Aga	p.G387R	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000356634.3_Missense_Mutation_p.G367R|KDM1A_ENST00000542151.1_Missense_Mutation_p.G387R	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	367	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGAAGCCAACGGACAAGCTGT	0.383													A	23385652	G	A	23385652	3	1	364	1	0	0	0	0	1	0	0	0	8180	1117	39	1	1193	1	KDM1A	1	23385652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4067	23385652	225864969	251	23753											
LUZP1	7798	broad.mit.edu	37	chr1	23418567	23418567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaccattggtatctgggaGctccatggtattggtggagg	8	11	15	7	0	1	0	0	0	1	0	2	2	2	2	2	6	2	4	2	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23418567G>A	ENST00000302291.4	-	4	2989	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	LUZP1_ENST00000418342.1_Missense_Mutation_p.L730F|LUZP1_ENST00000314174.5_Missense_Mutation_p.L730F|LUZP1_ENST00000374623.3_Missense_Mutation_p.L730F			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	730						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		GTATCTGGGAGCTCCATGGTA	0.483													A	23418567	G	A	23418567	3	1	364	1	0	0	0	0	1	0	0	0	9156	971	34	2	1050	2	LUZP1	1	23418567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32915	23418567	225832054	252	23754											
LUZP1	7798	broad.mit.edu	37	chr1	23419182	23419182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagccttgtcagctctacCcaatgggtcactgggaacag	11	8	11	11	0	3	1	2	0	1	1	3	2	3	2	2	2	4	1	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23419182C>T	ENST00000302291.4	-	4	2374	c.1573G>A	c.(1573-1575)Ggt>Agt	p.G525S	LUZP1_ENST00000418342.1_Missense_Mutation_p.G525S|LUZP1_ENST00000314174.5_Missense_Mutation_p.G525S|LUZP1_ENST00000374623.3_Missense_Mutation_p.G525S			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	525						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		TCAGCTCTACCCAATGGGTCA	0.532													T	23419182	C	T	23419182	3	4	364	1	0	0	0	0	1	0	0	0	9156	623	22	2	1665	2	LUZP1	1	23419182	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	615	23419182	225831439	253	23755											
LUZP1	7798	broad.mit.edu	37	chr1	23420599	23420599	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgctaccttctgcctgAatcaccttgtcctggagatc	7	13	9	12	0	2	2	1	1	1	1	4	4	3	2	4	1	3	2	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23420599A>G	ENST00000302291.4	-	4	957	c.156T>C	c.(154-156)atT>atC	p.I52I	LUZP1_ENST00000418342.1_Silent_p.I52I|LUZP1_ENST00000314174.5_Silent_p.I52I|LUZP1_ENST00000374623.3_Silent_p.I52I			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	52						nucleus				NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		CTTCTGCCTGAATCACCTTGT	0.517													G	23420599	A	G	23420599	2	3	364	1	0	0	0	0	0	0	0	1	9156	242	9	3		3	LUZP1	1	23420599	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1417	23420599	225830022	254	23756											
HTR1D	3352	broad.mit.edu	37	chr1	23520460	23520460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccaagatggaaaccaagaGgtcggtggtggccagggagc	12	5	16	8	1	0	2	0	0	0	2	1	4	0	4	3	6	3	0	3	6	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23520460G>T	ENST00000374619.1	-	1	762	c.253C>A	c.(253-255)Ctc>Atc	p.L85I	HTR1D_ENST00000314113.3_Missense_Mutation_p.L85I	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	85					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	GAAACCAAGAGGTCGGTGGTG	0.532													T	23520460	G	T	23520460	3	4	364	1	0	0	0	0	1	0	0	0	7496	1000	35	4	884	4	HTR1D	1	23520460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99861	23520460	225730161	255	23757											
HNRNPR	10236	broad.mit.edu	37	chr1	23650213	23650213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaatcccttggtatttTgcctacaaatacctgaaata	15	14	4	8	0	0	1	0	1	0	0	1	1	1	1	3	1	3	1	3	1	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23650213T>C	ENST00000478691.1	-	5	479	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	HNRNPR_ENST00000374612.1_Missense_Mutation_p.K171E|HNRNPR_ENST00000302271.6_Missense_Mutation_p.K171E|HNRNPR_ENST00000374616.3_Missense_Mutation_p.K171E|HNRNPR_ENST00000426846.2_Intron|HNRNPR_ENST00000606561.1_Missense_Mutation_p.K32E|HNRNPR_ENST00000427764.2_Missense_Mutation_p.K133E	NM_001102397.1|NM_001102399.1	NP_001095867.1|NP_001095869.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	171	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		CTTGGTATTTTGCCTACAAAT	0.408													C	23650213	T	C	23650213	3	2	364	1	0	0	0	0	1	0	0	0	7327	1821	63	3	1423	3	HNRNPR	1	23650213	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	129753	23650213	225600408	256	23758											
ID3	3399	broad.mit.edu	37	chr1	23885873	23885873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgcgttccgacaggcaGcacaccgcctcgtagcagcc	9	5	11	16	4	0	1	0	0	0	1	2	2	1	1	4	1	4	5	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:23885873G>A	ENST00000374561.5	-	1	412	c.45C>T	c.(43-45)tgC>tgT	p.C15C	ID3_ENST00000486541.1_5'UTR	NM_002167.4	NP_002158.3	Q02535	ID3_HUMAN	inhibitor of DNA binding 3, dominant negative helix-loop-helix protein	15					negative regulation of sequence-specific DNA binding transcription factor activity		transcription corepressor activity			central_nervous_system(1)|lung(3)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00314)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;8.83e-25)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;6.5e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		CCGACAGGCAGCACACCGCCT	0.642													A	23885873	G	A	23885873	2	1	364	1	0	0	0	0	0	0	0	1	7549	963	34	2		2	ID3	1	23885873	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235660	23885873	225364748	257	23759											
TCEB3	6924	broad.mit.edu	37	chr1	24078310	24078310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcgagcagccaaccatGtcttttgaatcctacctcag	11	11	7	12	1	2	1	1	1	1	0	4	3	3	1	4	0	4	1	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24078310G>A	ENST00000418390.2	+	4	1564	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TCEB3_ENST00000609199.1_Missense_Mutation_p.M405I	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	431					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		AGCCAACCATGTCTTTTGAAT	0.428											OREG0013232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24078310	G	A	24078310	3	1	364	1	0	0	0	0	1	0	0	0	15781	1377	48	2	1307	2	TCEB3	1	24078310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192437	24078310	225172311	258	23760											
CNR2	1269	broad.mit.edu	37	chr1	24201569	24201569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagtgggaaaagctcaGagcagggcctgggacagcaa	13	4	16	8	0	2	1	2	0	0	1	2	4	2	4	1	4	3	3	1	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201569G>T	ENST00000536471.1	-	3	797	c.539C>A	c.(538-540)tCt>tAt	p.S180Y	CNR2_ENST00000374472.4_Missense_Mutation_p.S180Y			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	180					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	GAAAAGCTCAGAGCAGGGCCT	0.567													T	24201569	G	T	24201569	3	4	364	1	0	0	0	0	1	0	0	0	3663	942	33	4	547	4	CNR2	1	24201569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123259	24201569	225049052	259	23761											
CNR2	1269	broad.mit.edu	37	chr1	24201629	24201629	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaggagactagtgctgagAggacccacatgatgcccagg	11	6	15	9	0	0	3	0	2	0	2	0	6	0	4	2	4	2	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24201629A>C	ENST00000536471.1	-	3	737	c.479T>G	c.(478-480)cTc>cGc	p.L160R	CNR2_ENST00000374472.4_Missense_Mutation_p.L160R			P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	160					behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Nabilone(DB00486)	TAGTGCTGAGAGGACCCACAT	0.587													C	24201629	A	C	24201629	3	2	364	1	0	0	0	0	1	0	0	0	3663	304	11	5	607	5	CNR2	1	24201629	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60	24201629	225048992	260	23762											
IL22RA1	58985	broad.mit.edu	37	chr1	24454689	24454689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttggcccaggtgggaacGcaaatcatgatggtgccaag	10	8	13	10	1	1	1	1	1	0	0	2	2	2	2	3	4	2	1	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24454689G>A	ENST00000270800.1	-	5	650	c.612C>T	c.(610-612)tgC>tgT	p.C204C		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	204	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		AGGTGGGAACGCAAATCATGA	0.557													A	24454689	G	A	24454689	2	1	364	1	0	0	0	0	0	0	0	1	7731	1079	38	1		1	IL22RA1	1	24454689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253060	24454689	224795932	261	23763											
GRHL3	57822	broad.mit.edu	37	chr1	24657946	24657946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgcggctgctaaagaacgaCccagtcaacttgcagaaatt	13	8	10	10	2	1	2	1	0	0	2	1	3	1	2	1	1	5	3	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24657946C>T	ENST00000361548.4	+	2	278	c.48C>T	c.(46-48)gaC>gaT	p.D16D	GRHL3_ENST00000350501.5_Silent_p.D16D|GRHL3_ENST00000342072.4_5'UTR|GRHL3_ENST00000356046.2_5'UTR|GRHL3_ENST00000530984.1_3'UTR|GRHL3_ENST00000236255.4_Silent_p.D21D	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	16					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TAAAGAACGACCCAGTCAACT	0.507													T	24657946	C	T	24657946	2	4	364	1	0	0	0	0	0	0	0	1	6820	506	18	2		2	GRHL3	1	24657946	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203257	24657946	224592675	262	23764											
GRHL3	57822	broad.mit.edu	37	chr1	24664190	24664190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcaggcgagtcacccatgGcctacctcaacaaaggccag	12	5	10	14	1	3	0	3	0	0	0	3	1	3	0	4	3	2	0	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24664190G>T	ENST00000361548.4	+	6	981	c.751G>T	c.(751-753)Gcc>Tcc	p.A251S	GRHL3_ENST00000350501.5_Missense_Mutation_p.A251S|GRHL3_ENST00000342072.4_Missense_Mutation_p.A158S|GRHL3_ENST00000356046.2_Missense_Mutation_p.A205S|GRHL3_ENST00000236255.4_Missense_Mutation_p.A256S	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	251					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTCACCCATGGCCTACCTCAA	0.597													T	24664190	G	T	24664190	3	4	364	1	0	0	0	0	1	0	0	0	6820	1203	42	4	809	4	GRHL3	1	24664190	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6244	24664190	224586431	263	23765											
GRHL3	57822	broad.mit.edu	37	chr1	24673118	24673118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagcaggccaaggaaggCgaccttcagagaggtgacct	12	5	13	11	1	1	2	1	1	0	1	2	5	2	3	4	4	1	1	4	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24673118C>T	ENST00000361548.4	+	13	1760	c.1530C>T	c.(1528-1530)ggC>ggT	p.G510G	GRHL3_ENST00000350501.5_Silent_p.G510G|GRHL3_ENST00000342072.4_Silent_p.G417G|GRHL3_ENST00000356046.2_Silent_p.G464G|GRHL3_ENST00000236255.4_Silent_p.G515G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	510					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		CCAAGGAAGGCGACCTTCAGA	0.632													T	24673118	C	T	24673118	2	4	364	1	0	0	0	0	0	0	0	1	6820	755	27	1		1	GRHL3	1	24673118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8928	24673118	224577503	264	23766											
RCAN3	11123	broad.mit.edu	37	chr1	24840983	24840983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgatttggatgagatgatgGatttaagtgatctgcctacc	11	14	11	5	0	1	4	0	4	1	1	1	7	1	6	2	2	2	0	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24840983G>A	ENST00000374395.4	+	2	434	c.121G>A	c.(121-123)Gat>Aat	p.D41N	RCAN3_ENST00000374393.2_Missense_Mutation_p.D41N|RCAN3_ENST00000436717.2_Missense_Mutation_p.D41N|RCAN3_ENST00000412742.2_Missense_Mutation_p.D41N|RCAN3_ENST00000538532.1_Missense_Mutation_p.D41N	NM_001251978.1|NM_001251979.1|NM_001251984.1	NP_001238907.1|NP_001238908.1|NP_001238913.1	Q9UKA8	RCAN3_HUMAN	RCAN family member 3	41					anatomical structure morphogenesis|calcium-mediated signaling		nucleotide binding|RNA binding|troponin I binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)	7		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00473)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0427)|OV - Ovarian serous cystadenocarcinoma(117;1.13e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;0.000923)|BRCA - Breast invasive adenocarcinoma(304;0.0018)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.00493)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.14)		TGAGATGATGGATTTAAGTGA	0.438													A	24840983	G	A	24840983	3	1	364	1	0	0	0	0	1	0	0	0	13258	1174	41	2	123	2	RCAN3	1	24840983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167865	24840983	224409638	265	23767											
SRRM1	10250	broad.mit.edu	37	chr1	24978975	24978975	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataccagagcctaaagaacCttctccggaaaaaaattcca	17	8	5	11	1	1	2	0	0	1	2	3	3	2	3	5	1	3	0	5	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:24978975C>A	ENST00000323848.9	+	7	1091	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SRRM1_ENST00000537199.1_Missense_Mutation_p.P128H|SRRM1_ENST00000374389.4_Missense_Mutation_p.P259H|SRRM1_ENST00000447431.2_Missense_Mutation_p.P259H|SRRM1_ENST00000479034.1_3'UTR	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	259	Arg-rich.|Pro-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		CCTAAAGAACCTTCTCCGGAA	0.448													A	24978975	C	A	24978975	3	1	364	1	0	0	0	0	1	0	0	0	15264	681	24	4	802	4	SRRM1	1	24978975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137992	24978975	224271646	266	23768											
SYF2	25949	broad.mit.edu	37	chr1	25549895	25549895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcatcattataaggacgtctCcggctatatttgtctcgttt	8	17	7	9	3	4	0	2	0	2	0	6	1	4	1	1	2	0	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25549895C>T	ENST00000236273.4	-	7	619	c.594G>A	c.(592-594)cgG>cgA	p.R198R	SYF2_ENST00000354361.3_Silent_p.R156R	NM_015484.4	NP_056299.1	O95926	SYF2_HUMAN	SYF2 pre-mRNA-splicing factor	198						catalytic step 2 spliceosome				kidney(1)|large_intestine(1)|lung(4)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-26)|Colorectal(126;2.54e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000455)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00145)|GBM - Glioblastoma multiforme(114;0.00443)|READ - Rectum adenocarcinoma(331;0.0936)|Lung(427;0.201)		AAGGACGTCTCCGGCTATATT	0.343													T	25549895	C	T	25549895	2	4	364	1	0	0	0	0	0	0	0	1	15534	842	30	2		2	SYF2	1	25549895	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	570920	25549895	223700726	267	23769											
C1orf63	57035	broad.mit.edu	37	chr1	25569197	25569197	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggctttgctacagaattCtgtaaaagaacaaattcagt	15	13	7	6	0	2	2	1	0	1	2	2	2	2	2	0	1	3	3	0	1	6	6	rs149585550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25569197C>A	ENST00000243189.7	-	5	1033		c.e5-1		C1orf63_ENST00000417642.2_Splice_Site	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63											breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CTACAGAATTCTGTAAAAGAA	0.338													A	25569197	C	A	25569197	5	1	364	1	0	0	0	0	0	0	1	0	2074	927	32	4	120	4	C1orf63	1	25569197	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19302	25569197	223681424	268	23770											
C1orf63	57035	broad.mit.edu	37	chr1	25573046	25573046	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagccgtagtagcgctGtccccgcgcgatcgcgtacg	8	6	12	15	8	0	0	0	0	0	0	2	1	1	0	4	0	3	4	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573046G>A	ENST00000243189.7	-	2	685	c.409C>T	c.(409-411)Cag>Tag	p.Q137*	C1orf63_ENST00000431849.2_Nonsense_Mutation_p.Q137*|C1orf63_ENST00000417642.2_Nonsense_Mutation_p.Q130*	NM_020317.3	NP_064713.3	Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63	137	Arg-rich.									breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TAGTAGCGCTGTCCCCGCGCG	0.647													A	25573046	G	A	25573046	4	1	364	1	0	0	0	0	0	1	0	0	2074	1386	48	2	479	2	C1orf63	1	25573046	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3849	25573046	223677575	269	23771											
C1orf63	57035	broad.mit.edu	37	chr1	25573443	25573443	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggccacatgtcgttcacGtagttggacatcttcacctg	7	11	9	14	3	3	0	2	0	1	0	4	1	3	1	3	2	0	3	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25573443G>A	ENST00000417642.2	-	0	223				C1orf63_ENST00000243189.7_Silent_p.Y4Y|C1orf63_ENST00000431849.2_Silent_p.Y4Y			Q9BUV0	CA063_HUMAN	chromosome 1 open reading frame 63											breast(1)|large_intestine(1)|lung(4)|pancreas(1)	7		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.9e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000333)|BRCA - Breast invasive adenocarcinoma(304;0.000443)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000932)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGTCGTTCACGTAGTTGGACA	0.597													A	25573443	G	A	25573443	1	1	364	1	0	0	0	0	0	0	0	0	2074	1140	40	1		1	C1orf63	1	25573443	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	397	25573443	223677178	270	23772											
RHD	6007	broad.mit.edu	37	chr1	25611236	25611236	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccttctgggaaggtggtCatcacactgttcaggtattg	7	14	11	9	0	4	0	3	0	1	0	5	1	5	1	1	4	0	2	1	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:25611236C>A	ENST00000328664.4	+	2	476	c.321C>A	c.(319-321)gtC>gtA	p.V107V	RHD_ENST00000423253.1_3'UTR|RHD_ENST00000423810.2_Silent_p.V107V|RHD_ENST00000357542.4_Silent_p.V107V|RHD_ENST00000568195.1_Silent_p.V107V|RHD_ENST00000342055.5_Silent_p.V107V|RHD_ENST00000454452.2_Silent_p.V107V|RHD_ENST00000417538.2_Silent_p.V107V	NM_001282867.1|NM_016124.3	NP_001269796.1|NP_057208	Q02161	RHD_HUMAN	Rh blood group, D antigen	107						integral to plasma membrane				breast(2)|large_intestine(4)|lung(7)|prostate(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;7.39e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;6.43e-07)|STAD - Stomach adenocarcinoma(196;0.000332)|BRCA - Breast invasive adenocarcinoma(304;0.000438)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|GBM - Glioblastoma multiforme(114;0.000908)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GGAAGGTGGTCATCACACTGT	0.557													A	25611236	C	A	25611236	2	1	364	1	0	0	0	0	0	0	0	1	13416	813	29	4		4	RHD	1	25611236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37793	25611236	223639385	271	23773											
MAN1C1	57134	broad.mit.edu	37	chr1	26109097	26109097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggagaaatactgtcggAcagaagccggtttctctggg	9	10	13	9	2	1	2	0	0	1	2	3	4	1	3	2	4	2	1	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26109097A>G	ENST00000374332.4	+	11	2002	c.1672A>G	c.(1672-1674)Aca>Gca	p.T558A	MAN1C1_ENST00000263979.3_Missense_Mutation_p.T378A|MAN1C1_ENST00000374329.1_Missense_Mutation_p.T329A	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	558					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		ATACTGTCGGACAGAAGCCGG	0.542													G	26109097	A	G	26109097	3	3	364	1	0	0	0	0	1	0	0	0	9288	275	10	3	1714	3	MAN1C1	1	26109097	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	497861	26109097	223141524	272	23774											
PAQR7	164091	broad.mit.edu	37	chr1	26189404	26189404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaagttgtgaggccagtgCgtgtgcagaggctcatagat	11	9	15	6	1	1	3	1	1	0	2	1	4	1	3	1	2	2	3	1	2	3	2	rs146789461	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189404C>T	ENST00000374296.3	-	2	1593	c.927G>A	c.(925-927)acG>acA	p.T309T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	309					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGCCAGTGCGTGTGCAGAG	0.577													T	26189404	C	T	26189404	2	4	364	1	0	0	0	0	0	0	0	1	11516	755	27	1		1	PAQR7	1	26189404	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80307	26189404	223061217	273	23775											
PAQR7	164091	broad.mit.edu	37	chr1	26189632	26189632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagaagagctggatcatcCgtggtggggtcggaggacac	10	7	17	7	2	1	2	1	0	0	2	3	6	2	5	1	6	1	1	1	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26189632C>T	ENST00000374296.3	-	2	1365	c.699G>A	c.(697-699)acG>acA	p.T233T	RP1-125I3.2_ENST00000455431.1_RNA	NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	233					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGATCATCCGTGGTGGGGT	0.597													T	26189632	C	T	26189632	2	4	364	1	0	0	0	0	0	0	0	1	11516	639	23	1		1	PAQR7	1	26189632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	26189632	223060989	274	23776											
PAQR7	164091	broad.mit.edu	37	chr1	26190160	26190160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggaaatagaagcgccaGgtctgatgcagcggccggta	10	6	16	9	4	1	2	0	1	1	1	1	3	1	3	2	4	4	2	2	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26190160G>A	ENST00000374296.3	-	2	837	c.171C>T	c.(169-171)acC>acT	p.T57T		NM_178422.5	NP_848509.1	Q86WK9	MPRA_HUMAN	progestin and adipoQ receptor family member VII	57					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			breast(3)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.16e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000724)|BRCA - Breast invasive adenocarcinoma(304;0.000965)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0136)|READ - Rectum adenocarcinoma(331;0.0649)		AGAAGCGCCAGGTCTGATGCA	0.642													A	26190160	G	A	26190160	2	1	364	1	0	0	0	0	0	0	0	1	11516	987	35	2		2	PAQR7	1	26190160	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	528	26190160	223060461	275	23777											
STMN1	3925	broad.mit.edu	37	chr1	26227579	26227579	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttcaatgtgcttatcCtgtaaaggaagggtaaggtg	11	13	11	6	0	2	0	1	0	1	0	3	1	3	1	1	3	1	3	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26227579C>A	ENST00000399728.1	-	5	742		c.e5-1		STMN1_ENST00000374291.1_Splice_Site|STMN1_ENST00000465604.1_Splice_Site|STMN1_ENST00000455785.2_Splice_Site|STMN1_ENST00000357865.2_Splice_Site|STMN1_ENST00000426559.2_Intron	NM_203401.1	NP_981946.1	P16949	STMN1_HUMAN	stathmin 1						cell differentiation|intracellular signal transduction|microtubule depolymerization|mitotic spindle organization|nervous system development|response to virus	cytoplasm|microtubule	signal transducer activity|tubulin binding			breast(2)|large_intestine(2)|skin(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000163)|all_lung(284;0.000234)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-25)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.013)|READ - Rectum adenocarcinoma(331;0.0649)		TGTGCTTATCCTGTAAAGGAA	0.443													A	26227579	C	A	26227579	5	1	364	1	0	0	0	0	0	0	1	0	15404	695	24	4	226	4	STMN1	1	26227579	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37419	26227579	223023042	276	23778											
PAFAH2	5051	broad.mit.edu	37	chr1	26310982	26310982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcaaccacaaagccacGtgaggccagctccatgcaga	14	3	9	15	1	0	2	0	1	0	1	1	2	1	2	4	1	5	3	4	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26310982G>A	ENST00000374282.3	-	5	558	c.379C>T	c.(379-381)Cgt>Tgt	p.R127C	PAFAH2_ENST00000374284.1_Missense_Mutation_p.R127C|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	127					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		ACAAAGCCACGTGAGGCCAGC	0.517													A	26310982	G	A	26310982	3	1	364	1	0	0	0	0	1	0	0	0	11463	1145	40	1	827	1	PAFAH2	1	26310982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83403	26310982	222939639	277	23779											
EXTL1	2134	broad.mit.edu	37	chr1	26349472	26349472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccatctctgagactcatcGcaggatcctggcttccattg	9	11	8	13	1	2	1	1	1	1	1	6	3	4	2	3	2	1	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26349472G>A	ENST00000374280.3	+	1	1202	c.335G>A	c.(334-336)cGc>cAc	p.R112H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	112					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		GAGACTCATCGCAGGATCCTG	0.572													A	26349472	G	A	26349472	3	1	364	1	0	0	0	0	1	0	0	0	5367	1087	38	1	337	1	EXTL1	1	26349472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38490	26349472	222901149	278	23780											
EXTL1	2134	broad.mit.edu	37	chr1	26357053	26357053	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgggatgcctacttctcCtcagtggagaaggtcatcca	9	11	10	11	0	3	1	2	0	1	1	5	3	4	2	3	3	2	0	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26357053C>A	ENST00000374280.3	+	4	1935	c.1068C>A	c.(1066-1068)tcC>tcA	p.S356S	EXTL1_ENST00000484339.1_3'UTR	NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	356					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		CCTACTTCTCCTCAGTGGAGA	0.597													A	26357053	C	A	26357053	2	1	364	1	0	0	0	0	0	0	0	1	5367	668	24	4		4	EXTL1	1	26357053	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7581	26357053	222893568	279	23781											
TRIM63	84676	broad.mit.edu	37	chr1	26383727	26383727	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggctctcagggcgtctgCtatgtgctctaaatccaaag	10	11	10	10	1	3	0	1	0	3	0	5	0	4	0	1	2	2	3	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26383727C>A	ENST00000374272.3	-	7	1084	c.946G>T	c.(946-948)Gca>Tca	p.A316S		NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	316	COS.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		AGGGCGTCTGCTATGTGCTCT	0.532													A	26383727	C	A	26383727	3	1	364	1	0	0	0	0	1	0	0	0	16639	797	28	4	127	4	TRIM63	1	26383727	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26674	26383727	222866894	280	23782											
CNKSR1	10256	broad.mit.edu	37	chr1	26515348	26515348	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagccacagcccctgacCcaggaacagtggcggagctc	9	3	13	16	1	0	1	0	1	0	0	1	3	0	3	5	4	4	1	5	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26515348C>A	ENST00000531191.1	+	19	2009	c.1002C>A	c.(1000-1002)acC>acA	p.T334T	CNKSR1_ENST00000374253.5_Silent_p.T599T|CNKSR1_ENST00000361530.6_Silent_p.T592T			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	599	Pro-rich.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		AGCCCCTGACCCAGGAACAGT	0.627													A	26515348	C	A	26515348	2	1	364	1	0	0	0	0	0	0	0	1	3637	610	22	4		4	CNKSR1	1	26515348	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131621	26515348	222735273	281	23783											
UBXN11	91544	broad.mit.edu	37	chr1	26611954	26611954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttgaggagcagcttatcaCcttaaaggggaccccattgg	10	10	12	9	0	1	1	1	1	0	0	1	3	1	3	3	4	2	3	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26611954C>T	ENST00000436301.2	-	8	727	c.628G>A	c.(628-630)Gtg>Atg	p.V210M	UBXN11_ENST00000374217.2_Splice_Site|UBXN11_ENST00000357089.4_Splice_Site|UBXN11_ENST00000374221.3_Splice_Site|UBXN11_ENST00000314675.7_Splice_Site|UBXN11_ENST00000374223.1_Splice_Site|UBXN11_ENST00000535108.1_Missense_Mutation_p.V127M|UBXN11_ENST00000374222.1_Splice_Site			Q5T124	UBX11_HUMAN	UBX domain protein 11	285						cytoplasm|cytoskeleton				endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						CAGCTTATCACCTTAAAGGGG	0.557											OREG0013265	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26611954	C	T	26611954	3	4	364	1	0	0	0	0	1	0	0	0	17015	521	18	2	733	2	UBXN11	1	26611954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96606	26611954	222638667	282	23784											
AIM1L	55057	broad.mit.edu	37	chr1	26663841	26663841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagatactggtggcccCggaagccctccttctcgtag	7	8	11	15	2	1	1	0	0	1	1	3	2	2	2	5	3	3	2	5	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26663841C>T	ENST00000527815.1	-	9	1101	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	AIM1L_ENST00000308182.5_Missense_Mutation_p.R180Q|AIM1L_ENST00000522993.1_5'UTR	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	180	Beta/gamma crystallin 'Greek key' 8.						sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CTGGTGGCCCCGGAAGCCCTC	0.602													T	26663841	C	T	26663841	3	4	364	1	0	0	0	0	1	0	0	0	431	652	23	1	1355	1	AIM1L	1	26663841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51887	26663841	222586780	283	23785											
LIN28A	79727	broad.mit.edu	37	chr1	26751871	26751871	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctttaagaagtcagccaaGggtctggaatccatccgtgt	11	10	10	10	1	2	1	1	0	1	1	4	2	4	2	4	2	1	0	4	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26751871G>T	ENST00000326279.6	+	3	420	c.306G>T	c.(304-306)aaG>aaT	p.K102N	LIN28A_ENST00000254231.4_Missense_Mutation_p.K102N	NM_024674.4	NP_078950.1	Q9H9Z2	LN28A_HUMAN	lin-28 homolog A (C. elegans)	102	CSD.				miRNA catabolic process|pre-miRNA processing|regulation of transcription, DNA-dependent|RNA 3'-end processing|stem cell maintenance	cytoplasmic mRNA processing body|nucleolus|stress granule	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AGTCAGCCAAGGGTCTGGAAT	0.517													T	26751871	G	T	26751871	3	4	364	1	0	0	0	0	1	0	0	0	8866	991	35	4	316	4	LIN28A	1	26751871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88030	26751871	222498750	284	23786											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888068	26888068	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctgctggacaagatcCtgcggcagaagttcttctca	9	9	13	10	1	2	2	1	0	2	2	4	4	3	4	1	3	3	4	1	3	2	2	rs138370781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26888068C>A	ENST00000374168.2	+	17	1658	c.1504C>A	c.(1504-1506)Ctg>Atg	p.L502M	RPS6KA1_ENST00000531382.1_Missense_Mutation_p.L511M|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.L486M|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.L410M|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.L410M|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.L491M	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	502	Protein kinase 2.				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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GGACAAGATCCTGCGGCAGAA	0.557													A	26888068	C	A	26888068	3	1	364	1	0	0	0	0	1	0	0	0	13741	680	24	4	1709	4	RPS6KA1	1	26888068	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136197	26888068	222362553	285	23787											
RPS6KA1	6195	broad.mit.edu	37	chr1	26900689	26900689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgccatccaccaccctGtgaggcaccagggcattcgg	9	7	11	14	1	0	1	0	1	0	0	2	1	1	1	5	3	1	3	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:26900689G>A	ENST00000374168.2	+	22	2359	c.2205G>A	c.(2203-2205)ctG>ctA	p.L735L	RPS6KA1_ENST00000531382.1_Silent_p.L744L|RPS6KA1_ENST00000530003.1_Silent_p.L719L|RPS6KA1_ENST00000374162.2_Silent_p.L643L|RPS6KA1_ENST00000526792.1_Silent_p.L643L|RPS6KA1_ENST00000374166.4_Silent_p.L724L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	735					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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		CCACCACCCTGTGAGGCACCA	0.642													A	26900689	G	A	26900689	2	1	364	1	0	0	0	0	0	0	0	1	13741	1364	48	2		2	RPS6KA1	1	26900689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12621	26900689	222349932	286	23788											
ARID1A	8289	broad.mit.edu	37	chr1	27056262	27056262	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacatgggtacccagggCagccatacgggtcccagacc	11	4	13	13	1	0	1	0	0	0	1	1	2	1	2	4	4	3	2	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27056262C>T	ENST00000324856.7	+	2	1629	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q37*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q420*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	420					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTACCCAGGGCAGCCATACGG	0.627			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27056262	C	T	27056262	4	4	364	1	0	0	0	0	0	1	0	0	916	711	25	2	1264	2	ARID1A	1	27056262	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155573	27056262	222194359	287	23789											
ARID1A	8289	broad.mit.edu	37	chr1	27059251	27059251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcaagaagatatgaacCtgagccttcagtcaagaccc	14	6	11	10	0	2	5	2	2	0	3	2	6	2	5	3	1	2	1	3	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27059251C>A	ENST00000324856.7	+	4	2259	c.1888C>A	c.(1888-1890)Ctg>Atg	p.L630M	ARID1A_ENST00000374152.2_Missense_Mutation_p.L247M|ARID1A_ENST00000457599.2_Missense_Mutation_p.L630M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	630					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGATATGAACCTGAGCCTTCA	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								A	27059251	C	A	27059251	3	1	364	1	0	0	0	0	1	0	0	0	916	680	24	4	1902	4	ARID1A	1	27059251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2989	27059251	222191370	288	23790											
ARID1A	8289	broad.mit.edu	37	chr1	27088761	27088761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgggctcctaccagcaGaactccatggggagctatgg	9	7	14	11	0	0	1	0	0	0	1	2	2	2	2	3	5	4	4	3	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27088761G>T	ENST00000324856.7	+	7	2741	c.2370G>T	c.(2368-2370)caG>caT	p.Q790H	ARID1A_ENST00000374152.2_Missense_Mutation_p.Q407H|ARID1A_ENST00000457599.2_Missense_Mutation_p.Q790H	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	790					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTACCAGCAGAACTCCATGG	0.582			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27088761	G	T	27088761	3	4	364	1	0	0	0	0	1	0	0	0	916	933	33	4	2396	4	ARID1A	1	27088761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29510	27088761	222161860	289	23791											
ARID1A	8289	broad.mit.edu	37	chr1	27105658	27105658	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcaaggtgtctagtccaGctcccatggagggtggggaa	9	8	15	9	0	2	0	1	0	1	0	4	2	4	2	2	5	2	2	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27105658G>T	ENST00000324856.7	+	20	5640	c.5269G>T	c.(5269-5271)Gct>Tct	p.A1757S	ARID1A_ENST00000374152.2_Missense_Mutation_p.A1374S|ARID1A_ENST00000540690.1_Missense_Mutation_p.A85S|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1540S	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1757					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTCTAGTCCAGCTCCCATGGA	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27105658	G	T	27105658	3	4	364	1	0	0	0	0	1	0	0	0	916	971	34	4	5347	4	ARID1A	1	27105658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16897	27105658	222144963	290	23792											
ARID1A	8289	broad.mit.edu	37	chr1	27106327	27106327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggattctcttgccaagCgctgcgtctgtgtgtccaat	6	12	12	11	2	2	0	0	0	2	0	4	1	3	1	2	2	3	2	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106327C>T	ENST00000324856.7	+	20	6309	c.5938C>T	c.(5938-5940)Cgc>Tgc	p.R1980C	ARID1A_ENST00000374152.2_Missense_Mutation_p.R1597C|ARID1A_ENST00000540690.1_Missense_Mutation_p.R308C|ARID1A_ENST00000457599.2_Missense_Mutation_p.R1763C	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1980					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTTGCCAAGCGCTGCGTCTG	0.537			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27106327	C	T	27106327	3	4	364	1	0	0	0	0	1	0	0	0	916	768	27	1	6016	1	ARID1A	1	27106327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	669	27106327	222144294	291	23793											
ARID1A	8289	broad.mit.edu	37	chr1	27106360	27106360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaataccattcgaagcCtgtcatttgtgccaggcaat	10	12	8	11	1	1	0	1	0	0	0	3	1	2	0	4	1	3	1	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27106360C>A	ENST00000324856.7	+	20	6342	c.5971C>A	c.(5971-5973)Ctg>Atg	p.L1991M	ARID1A_ENST00000374152.2_Missense_Mutation_p.L1608M|ARID1A_ENST00000540690.1_Missense_Mutation_p.L319M|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1774M	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1991					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CATTCGAAGCCTGTCATTTGT	0.552			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								A	27106360	C	A	27106360	3	1	364	1	0	0	0	0	1	0	0	0	916	680	24	4	6049	4	ARID1A	1	27106360	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	27106360	222144261	292	23794											
ZDHHC18	84243	broad.mit.edu	37	chr1	27177723	27177723	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgactactaatgaagacGtgagtaaacctggagccacc	14	7	9	11	1	0	4	0	3	0	1	0	5	0	5	4	1	3	1	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27177723G>A	ENST00000374142.4	+	6	1031		c.e6+1		ZDHHC18_ENST00000478902.1_Splice_Site	NM_032283.2	NP_115659.1	Q9NUE0	ZDH18_HUMAN	zinc finger, DHHC-type containing 18							integral to membrane	zinc ion binding			endometrium(1)|large_intestine(2)	3		all_cancers(24;5.82e-22)|all_epithelial(13;9.91e-20)|Colorectal(325;0.000147)|Breast(348;0.000706)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;5.71e-53)|Epithelial(14;4.73e-52)|OV - Ovarian serous cystadenocarcinoma(117;1.53e-29)|Colorectal(126;1.9e-09)|COAD - Colon adenocarcinoma(152;4.2e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000548)|STAD - Stomach adenocarcinoma(196;0.00065)|KIRC - Kidney renal clear cell carcinoma(1967;0.000779)|GBM - Glioblastoma multiforme(114;0.0265)|READ - Rectum adenocarcinoma(331;0.0455)|Lung(427;0.163)|LUSC - Lung squamous cell carcinoma(448;0.237)		TAATGAAGACGTGAGTAAACC	0.587													A	27177723	G	A	27177723	5	1	364	1	0	0	0	0	0	0	1	0	17709	1159	40	1	959	1	ZDHHC18	1	27177723	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71363	27177723	222072898	293	23795											
SFN	2810	broad.mit.edu	37	chr1	27189909	27189909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagtattgagcagaaaaGcaacgaggagggctcggagg	13	5	16	7	2	0	2	0	1	0	1	2	5	1	4	1	4	3	4	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27189909G>A	ENST00000339276.4	+	1	277	c.206G>A	c.(205-207)aGc>aAc	p.S69N		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	69					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		GAGCAGAAAAGCAACGAGGAG	0.627													A	27189909	G	A	27189909	3	1	364	1	0	0	0	0	1	0	0	0	14252	971	34	2	208	2	SFN	1	27189909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12186	27189909	222060712	294	23796											
SFN	2810	broad.mit.edu	37	chr1	27190385	27190385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgcgagacaacctgAcactgtggacggccgacaac	11	5	12	13	3	0	2	0	1	0	1	0	5	0	3	2	2	5	2	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27190385A>G	ENST00000339276.4	+	1	753	c.682A>G	c.(682-684)Aca>Gca	p.T228A		NM_006142.3	NP_006133.1	P31947	1433S_HUMAN	stratifin	228					DNA damage response, signal transduction resulting in induction of apoptosis|negative regulation of caspase activity|release of cytochrome c from mitochondria	cytoplasm|extracellular space|nucleus	protein domain specific binding|protein kinase C inhibitor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	9		all_cancers(24;1.23e-26)|all_epithelial(13;1.19e-23)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Breast(348;0.00017)|Renal(390;0.0007)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.1e-52)|Epithelial(14;2.31e-52)|OV - Ovarian serous cystadenocarcinoma(117;8.22e-30)|Colorectal(126;1.31e-09)|COAD - Colon adenocarcinoma(152;3.45e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)|GBM - Glioblastoma multiforme(114;0.0767)|Lung(427;0.215)		AGACAACCTGACACTGTGGAC	0.657													G	27190385	A	G	27190385	3	3	364	1	0	0	0	0	1	0	0	0	14252	275	10	3	684	3	SFN	1	27190385	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	476	27190385	222060236	295	23797											
GPN2	54707	broad.mit.edu	37	chr1	27206198	27206198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcttcctgctccactgaCtggttcgagggtgccaggta	6	11	13	11	1	0	1	0	1	0	0	3	2	2	1	3	4	2	4	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27206198C>A	ENST00000374135.4	-	5	1103	c.903G>T	c.(901-903)caG>caT	p.Q301H	GPN2_ENST00000374133.3_Missense_Mutation_p.Q122H	NM_018066.3	NP_060536.3	Q9H9Y4	GPN2_HUMAN	GPN-loop GTPase 2	301							GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9						GCTCCACTGACTGGTTCGAGG	0.587													A	27206198	C	A	27206198	3	1	364	1	0	0	0	0	1	0	0	0	6672	564	20	4	33	4	GPN2	1	27206198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15813	27206198	222044423	296	23798											
GPATCH3	63906	broad.mit.edu	37	chr1	27217689	27217689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggcctcttcagttgccCaaatggctgtagcttctctc	6	12	10	13	1	3	0	1	0	2	0	5	0	3	0	2	3	2	4	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27217689C>A	ENST00000361720.5	-	7	1413	c.1390G>T	c.(1390-1392)Ggg>Tgg	p.G464W		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	464						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		TTCAGTTGCCCAAATGGCTGT	0.557													A	27217689	C	A	27217689	3	1	364	1	0	0	0	0	1	0	0	0	6646	594	21	4	191	4	GPATCH3	1	27217689	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11491	27217689	222032932	297	23799											
GPATCH3	63906	broad.mit.edu	37	chr1	27223972	27223972	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcaaaaggcacattgccGtagcgccgggaggaacctgt	11	7	12	11	3	1	0	1	0	0	0	1	2	1	2	3	3	4	2	3	3	5	3	rs149060380		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27223972G>A	ENST00000361720.5	-	2	719	c.696C>T	c.(694-696)taC>taT	p.Y232Y		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	232						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		GCACATTGCCGTAGCGCCGGG	0.567													A	27223972	G	A	27223972	2	1	364	1	0	0	0	0	0	0	0	1	6646	1140	40	1		1	GPATCH3	1	27223972	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6283	27223972	222026649	298	23800											
NUDC	10726	broad.mit.edu	37	chr1	27269155	27269155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgattgtaagcaggataCtgaggaagatgaggaggaag	14	7	15	5	0	0	4	0	3	0	1	0	8	0	8	1	4	2	2	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269155C>T	ENST00000321265.5	+	5	557	c.434C>T	c.(433-435)aCt>aTt	p.T145I		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	145					cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		AAGCAGGATACTGAGGAAGAT	0.532													T	27269155	C	T	27269155	3	4	364	1	0	0	0	0	1	0	0	0	10797	565	20	2	452	2	NUDC	1	27269155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45183	27269155	221981466	299	23801											
NUDC	10726	broad.mit.edu	37	chr1	27269425	27269425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatggtggtggacatccagCggcggcacctccgggtgggg	6	6	18	11	3	0	0	0	0	0	0	2	1	2	1	3	8	1	1	3	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27269425C>T	ENST00000321265.5	+	6	733	c.610C>T	c.(610-612)Cgg>Tgg	p.R204W		NM_006600.3	NP_006591.1	Q9Y266	NUDC_HUMAN	nudC nuclear distribution protein	204	CS.				cell proliferation|cytokinesis|mitotic prometaphase|multicellular organismal development	cytosol|microtubule|nucleoplasm	protein binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;6.1e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.87e-29)|Colorectal(126;5.74e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000281)|STAD - Stomach adenocarcinoma(196;0.000604)|KIRC - Kidney renal clear cell carcinoma(1967;0.000739)|READ - Rectum adenocarcinoma(331;0.0421)		GGACATCCAGCGGCGGCACCT	0.592													T	27269425	C	T	27269425	3	4	364	1	0	0	0	0	1	0	0	0	10797	759	27	1	632	1	NUDC	1	27269425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270	27269425	221981196	300	23802											
FAM46B	115572	broad.mit.edu	37	chr1	27333309	27333309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggaaggatgcctcactgCgcaggtccacccggaacacc	9	5	12	15	2	1	0	1	0	0	0	2	3	2	3	4	4	3	2	4	4	2	0	rs142455633		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27333309C>T	ENST00000289166.5	-	2	569	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_052943.3	NP_443175.2	Q96A09	FA46B_HUMAN	family with sequence similarity 46, member B	135										breast(1)|central_nervous_system(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;7.71e-51)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|STAD - Stomach adenocarcinoma(196;0.00114)|READ - Rectum adenocarcinoma(331;0.0419)		TGCCTCACTGCGCAGGTCCAC	0.637													T	27333309	C	T	27333309	3	4	364	1	0	0	0	0	1	0	0	0	5617	768	27	1	877	1	FAM46B	1	27333309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63884	27333309	221917312	301	23803											
SLC9A1	6548	broad.mit.edu	37	chr1	27426801	27426801	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgctggccctggtgttaCtgccccttggggaagaacgg	5	9	15	12	1	0	1	0	0	0	1	0	2	0	2	4	5	4	2	4	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426801C>T	ENST00000263980.3	-	12	3020	c.2445G>A	c.(2443-2445)caG>caA	p.Q815Q	SLC9A1_ENST00000545949.1_Silent_p.Q476Q	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	815					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CCTGGTGTTACTGCCCCTTGG	0.667													T	27426801	C	T	27426801	2	4	364	1	0	0	0	0	0	0	0	1	14803	564	20	2		2	SLC9A1	1	27426801	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93492	27426801	221823820	302	23804											
SLC9A1	6548	broad.mit.edu	37	chr1	27426981	27426981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccccatcgtcgtcctcGtcctcctcagccacctttgc	4	11	6	20	3	1	0	1	0	0	0	7	0	4	0	7	0	3	0	7	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27426981G>A	ENST00000263980.3	-	12	2840	c.2265C>T	c.(2263-2265)gaC>gaT	p.D755D	SLC9A1_ENST00000545949.1_Silent_p.D416D	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	755					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	CGTCGTCCTCGTCCTCCTCAG	0.617													A	27426981	G	A	27426981	2	1	364	1	0	0	0	0	0	0	0	1	14803	1136	40	1		1	SLC9A1	1	27426981	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180	27426981	221823640	303	23805											
WDTC1	23038	broad.mit.edu	37	chr1	27589652	27589652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcccctaggagcggggtGccctgagctttgagcggcgc	4	8	16	13	3	0	2	0	2	0	0	1	3	1	3	3	4	4	1	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27589652G>A	ENST00000319394.3	+	3	593	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	WDTC1_ENST00000361771.3_Missense_Mutation_p.A20T	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	20							protein binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		GGAGCGGGGTGCCCTGAGCTT	0.483													A	27589652	G	A	27589652	3	1	364	1	0	0	0	0	1	0	0	0	17444	1319	46	2	64	2	WDTC1	1	27589652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162671	27589652	221660969	304	23806											
SYTL1	84958	broad.mit.edu	37	chr1	27674031	27674031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctctgaccttgtccgagCgtctatgcgcaggaagaaga	9	8	13	11	4	2	3	0	1	2	2	3	5	3	4	2	2	2	2	2	2	3	2	rs150662670		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27674031C>T	ENST00000543823.1	+	2	773	c.311C>T	c.(310-312)gCg>gTg	p.A104V	SYTL1_ENST00000318074.5_Missense_Mutation_p.A104V			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	104					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTTGTCCGAGCGTCTATGCGC	0.632													T	27674031	C	T	27674031	3	4	364	1	0	0	0	0	1	0	0	0	15579	768	27	1	317	1	SYTL1	1	27674031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84379	27674031	221576590	305	23807											
SYTL1	84958	broad.mit.edu	37	chr1	27675609	27675609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttctgtccccctaaaggcTtcagatcctgaggaggcgtc	7	10	10	14	1	2	2	1	1	1	1	5	3	4	3	4	3	0	1	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27675609T>C	ENST00000543823.1	+	5	960	c.498T>C	c.(496-498)gcT>gcC	p.A166A	SYTL1_ENST00000318074.5_Silent_p.A154A|SYTL1_ENST00000490170.1_3'UTR			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	166					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CCCTAAAGGCTTCAGATCCTG	0.607													C	27675609	T	C	27675609	2	2	364	1	0	0	0	0	0	0	0	1	15579	1596	56	3		3	SYTL1	1	27675609	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1578	27675609	221575012	306	23808											
AHDC1	27245	broad.mit.edu	37	chr1	27875328	27875328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcccccgcaaactgcCgacagttctcgggcgagggc	9	4	14	14	4	1	1	0	0	1	1	2	4	1	1	3	2	3	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27875328C>T	ENST00000374011.2	-	6	4267	c.3299G>A	c.(3298-3300)cGg>cAg	p.R1100Q	AHDC1_ENST00000247087.5_Missense_Mutation_p.R1100Q	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1100							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CGCAAACTGCCGACAGTTCTC	0.627													T	27875328	C	T	27875328	3	4	364	1	0	0	0	0	1	0	0	0	412	652	23	1	1516	1	AHDC1	1	27875328	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199719	27875328	221375293	307	23809											
AHDC1	27245	broad.mit.edu	37	chr1	27876321	27876321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccaccacccttatccccgGcccactcagcacctgcctcc	7	6	5	23	1	1	0	1	0	0	0	3	0	3	0	9	1	3	1	9	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876321G>A	ENST00000374011.2	-	6	3274	c.2306C>T	c.(2305-2307)gCc>gTc	p.A769V	AHDC1_ENST00000247087.5_Missense_Mutation_p.A769V	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	769	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTTATCCCCGGCCCACTCAGC	0.667													A	27876321	G	A	27876321	3	1	364	1	0	0	0	0	1	0	0	0	412	1203	42	2	2509	2	AHDC1	1	27876321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	993	27876321	221374300	308	23810											
AHDC1	27245	broad.mit.edu	37	chr1	27876628	27876628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctttgcccccacgccGccggaagccctgcacacgat	6	6	10	19	4	0	0	0	0	0	0	0	2	0	1	6	1	4	2	6	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:27876628G>A	ENST00000374011.2	-	6	2967	c.1999C>T	c.(1999-2001)Cgg>Tgg	p.R667W	AHDC1_ENST00000247087.5_Missense_Mutation_p.R667W	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	667	Gly-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CCCCCACGCCGCCGGAAGCCC	0.672													A	27876628	G	A	27876628	3	1	364	1	0	0	0	0	1	0	0	0	412	1086	38	1	2816	1	AHDC1	1	27876628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307	27876628	221373993	309	23811											
XKR8	55113	broad.mit.edu	37	chr1	28290024	28290024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtgcgtgcaggagctgCggcaggggctgctggtgtgg	4	8	21	8	2	0	0	0	0	0	0	0	1	0	1	0	7	5	5	0	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28290024C>T	ENST00000373884.5	+	2	918	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W		NM_018053.2	NP_060523.2	Q9H6D3	XKR8_HUMAN	XK, Kell blood group complex subunit-related family, member 8	104						integral to membrane				endometrium(1)|large_intestine(2)|lung(1)	4		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00588)|all_lung(284;0.00645)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;4.72e-24)|Colorectal(126;1.52e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00572)|READ - Rectum adenocarcinoma(331;0.0526)		GCAGGAGCTGCGGCAGGGGCT	0.607													T	28290024	C	T	28290024	3	4	364	1	0	0	0	0	1	0	0	0	17539	759	27	1	316	1	XKR8	1	28290024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413396	28290024	220960597	310	23812											
ATPIF1	93974	broad.mit.edu	37	chr1	28564459	28564459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaattgagcgccataagcaGaagatcaaaatgctaaaaca	20	6	8	7	1	1	3	1	1	0	2	1	4	1	3	1	0	4	2	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28564459G>A	ENST00000335514.5	+	3	342	c.291G>A	c.(289-291)caG>caA	p.Q97Q	ATPIF1_ENST00000468425.2_Intron|ATPIF1_ENST00000465645.1_3'UTR|ATPIF1_ENST00000497986.1_3'UTR	NM_016311.4	NP_057395.1	Q9UII2	ATIF1_HUMAN	ATPase inhibitory factor 1	97					angiogenesis|generation of precursor metabolites and energy|negative regulation of endothelial cell proliferation|negative regulation of hydrolase activity|negative regulation of nucleotide metabolic process|protein homotetramerization	cell surface|mitochondrion	angiostatin binding|ATPase binding|ATPase inhibitor activity|calmodulin binding|protein homodimerization activity			lung(4)	4		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|BRCA - Breast invasive adenocarcinoma(304;0.00574)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		GCCATAAGCAGAAGATCAAAA	0.413													A	28564459	G	A	28564459	2	1	364	1	0	0	0	0	0	0	0	1	1208	933	33	2		2	ATPIF1	1	28564459	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	274435	28564459	220686162	311	23813											
SESN2	83667	broad.mit.edu	37	chr1	28599172	28599172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcacccactgccactcGctctcctccttcgtgtttgg	3	13	7	18	2	2	0	1	0	1	0	6	0	3	0	4	1	2	3	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28599172G>A	ENST00000253063.3	+	5	939	c.618G>A	c.(616-618)tcG>tcA	p.S206S		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	206					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		ACTGCCACTCGCTCTCCTCCT	0.642													A	28599172	G	A	28599172	2	1	364	1	0	0	0	0	0	0	0	1	14218	1074	38	1		1	SESN2	1	28599172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34713	28599172	220651449	312	23814											
MED18	54797	broad.mit.edu	37	chr1	28660946	28660946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagtgttttagatcacaGtttggaaagcctcatccacc	12	11	9	9	0	2	1	2	0	0	1	3	3	3	3	3	2	1	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28660946G>T	ENST00000373842.4	+	3	301	c.92G>T	c.(91-93)aGt>aTt	p.S31I	MED18_ENST00000398997.2_Missense_Mutation_p.S31I|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	31					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		TTAGATCACAGTTTGGAAAGC	0.418													T	28660946	G	T	28660946	3	4	364	1	0	0	0	0	1	0	0	0	9511	1029	36	4	98	4	MED18	1	28660946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61774	28660946	220589675	313	23815											
PHACTR4	65979	broad.mit.edu	37	chr1	28793148	28793148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcaccccttccccagcacCcaggactctgcctgctgctc	5	9	7	20	0	2	0	1	0	1	0	4	1	3	1	6	1	4	3	6	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28793148C>T	ENST00000373839.3	+	6	953	c.692C>T	c.(691-693)cCc>cTc	p.P231L	PHACTR4_ENST00000373836.3_Missense_Mutation_p.P241L|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	231	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCCAGCACCCAGGACTCTG	0.577													T	28793148	C	T	28793148	3	4	364	1	0	0	0	0	1	0	0	0	11889	623	22	2	760	2	PHACTR4	1	28793148	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132202	28793148	220457473	314	23816											
PHACTR4	65979	broad.mit.edu	37	chr1	28818246	28818246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaggtaacagatgctcaaGattatgaccggcgagccgac	13	7	12	9	3	1	4	1	1	0	3	1	6	1	4	2	2	3	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:28818246G>A	ENST00000373839.3	+	12	2224	c.1963G>A	c.(1963-1965)Gat>Aat	p.D655N	PHACTR4_ENST00000373836.3_Missense_Mutation_p.D665N|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	655							actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		AGATGCTCAAGATTATGACCG	0.468													A	28818246	G	A	28818246	3	1	364	1	0	0	0	0	1	0	0	0	11889	942	33	2	2055	2	PHACTR4	1	28818246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25098	28818246	220432375	315	23817											
OPRD1	4985	broad.mit.edu	37	chr1	29185541	29185541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcgctggccaccagcacGctgcctttccagagtgccaa	8	7	11	15	2	0	1	0	0	0	1	1	2	1	1	5	1	4	3	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29185541G>A	ENST00000234961.2	+	2	545	c.303G>A	c.(301-303)acG>acA	p.T101T		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	101					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	CCACCAGCACGCTGCCTTTCC	0.517													A	29185541	G	A	29185541	2	1	364	1	0	0	0	0	0	0	0	1	10960	1074	38	1		1	OPRD1	1	29185541	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367295	29185541	220065080	316	23818											
EPB41	2035	broad.mit.edu	37	chr1	29344862	29344862	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagactacgacccagaactCcatggcgtggattatgttag	11	9	12	9	2	0	2	0	0	0	2	1	5	1	3	2	3	2	1	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29344862C>A	ENST00000343067.4	+	7	1159	c.1032C>A	c.(1030-1032)ctC>ctA	p.L344L	EPB41_ENST00000373800.3_Silent_p.L135L|EPB41_ENST00000347529.3_Silent_p.L309L|EPB41_ENST00000373798.1_Silent_p.L344L|EPB41_ENST00000398863.2_Silent_p.L344L|EPB41_ENST00000356093.2_Silent_p.L344L|EPB41_ENST00000349460.4_Silent_p.L135L|EPB41_ENST00000373797.1_Silent_p.L344L	NM_001166005.1	NP_001159477.1	P11171	41_HUMAN	erythrocyte membrane protein band 4.1 (elliptocytosis 1, RH-linked)	344	FERM.				blood circulation|cortical actin cytoskeleton organization|positive regulation of protein binding	extrinsic to membrane|Golgi apparatus|nucleus|plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	1-phosphatidylinositol binding|actin binding|spectrin binding|structural constituent of cytoskeleton			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|urinary_tract(1)	14		Colorectal(325;3.46e-05)|Prostate(1639;0.000244)|Lung NSC(340;0.00328)|all_lung(284;0.00412)|Breast(348;0.00765)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.12e-07)|COAD - Colon adenocarcinoma(152;1.21e-05)|STAD - Stomach adenocarcinoma(196;0.00395)|KIRC - Kidney renal clear cell carcinoma(1967;0.0249)|BRCA - Breast invasive adenocarcinoma(304;0.0289)|READ - Rectum adenocarcinoma(331;0.0757)		ACCCAGAACTCCATGGCGTGG	0.453													A	29344862	C	A	29344862	2	1	364	1	0	0	0	0	0	0	0	1	5192	842	30	4		4	EPB41	1	29344862	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159321	29344862	219905759	317	23819											
MECR	51102	broad.mit.edu	37	chr1	29528491	29528491	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcgggccttcttagctcCtcttctgtgatgacatgctc	5	16	8	12	1	3	2	0	2	3	0	6	2	4	2	2	1	2	2	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29528491C>A	ENST00000373791.3	-	6	864	c.492G>T	c.(490-492)gaG>gaT	p.E164D	MECR_ENST00000263702.6_Missense_Mutation_p.E240D	NM_001024732.1|NM_016011.2	NP_001019903|NP_057095.3	Q9BV79	MECR_HUMAN	mitochondrial trans-2-enoyl-CoA reductase	240					fatty acid biosynthetic process	mitochondrion	trans-2-enoyl-CoA reductase (NADPH) activity|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)	11		Colorectal(325;0.000389)|Breast(348;0.00765)|Lung NSC(340;0.0081)|all_lung(284;0.00914)|all_neural(195;0.0199)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)|Medulloblastoma(700;0.123)		Colorectal(126;3.39e-07)|COAD - Colon adenocarcinoma(152;2.04e-05)|STAD - Stomach adenocarcinoma(196;0.0195)|BRCA - Breast invasive adenocarcinoma(304;0.053)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.137)		TTCTTAGCTCCTCTTCTGTGA	0.493													A	29528491	C	A	29528491	3	1	364	1	0	0	0	0	1	0	0	0	9499	680	24	4	421	4	MECR	1	29528491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183629	29528491	219722130	318	23820											
PTPRU	10076	broad.mit.edu	37	chr1	29585240	29585240	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatcccacggccgtcagtgGcaccaggctgagctggctgt	6	7	15	13	2	1	1	1	1	0	0	2	2	2	2	3	5	1	4	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29585240G>A	ENST00000356870.3	+	3	539	c.429G>A	c.(427-429)tgG>tgA	p.W143*	PTPRU_ENST00000428026.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.W143*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.W143*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.W143*|PTPRU_ENST00000345512.3_Nonsense_Mutation_p.W143*	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	143	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GCCGTCAGTGGCACCAGGCTG	0.642													A	29585240	G	A	29585240	4	1	364	1	0	0	0	0	0	1	0	0	12901	1212	42	2	439	2	PTPRU	1	29585240	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56749	29585240	219665381	319	23821											
PTPRU	10076	broad.mit.edu	37	chr1	29606579	29606579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgattatgccgacatgccGtcacccctgggcgagtctga	7	11	11	12	3	2	2	1	2	1	0	2	4	2	2	4	1	2	0	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29606579G>A	ENST00000356870.3	+	11	1904	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PTPRU_ENST00000428026.2_Silent_p.P598P|PTPRU_ENST00000460170.2_Silent_p.P598P|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000323874.8_Silent_p.P598P|PTPRU_ENST00000373779.3_Silent_p.P598P|PTPRU_ENST00000345512.3_Silent_p.P598P	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	598	Fibronectin type-III 4.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCGACATGCCGTCACCCCTGG	0.647													A	29606579	G	A	29606579	2	1	364	1	0	0	0	0	0	0	0	1	12901	1132	40	1		1	PTPRU	1	29606579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21339	29606579	219644042	320	23822											
PTPRU	10076	broad.mit.edu	37	chr1	29644280	29644280	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctgaactcggtcaccccGccgctggacgtggaggagtg	7	6	15	13	5	1	1	1	1	0	0	2	4	1	4	3	4	1	2	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:29644280G>A	ENST00000356870.3	+	26	3662	c.3552G>A	c.(3550-3552)ccG>ccA	p.P1184P	PTPRU_ENST00000428026.2_Silent_p.P1175P|PTPRU_ENST00000460170.2_Silent_p.P1184P|PTPRU_ENST00000323874.8_Silent_p.P1184P|PTPRU_ENST00000373779.3_Silent_p.P1178P|PTPRU_ENST00000345512.3_Silent_p.P1188P	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1188	Tyrosine-protein phosphatase 2.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CGGTCACCCCGCCGCTGGACG	0.672													A	29644280	G	A	29644280	2	1	364	1	0	0	0	0	0	0	0	1	12901	1074	38	1		1	PTPRU	1	29644280	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37701	29644280	219606341	321	23823											
SDC3	9672	broad.mit.edu	37	chr1	31349520	31349520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggccgggaggtagctgtgCtgaccagcctgggtgttggg	4	10	19	8	1	0	1	0	1	0	0	0	2	0	2	3	5	3	4	3	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31349520C>T	ENST00000336798.7	-	1	2067	c.575G>A	c.(574-576)aGc>aAc	p.S192N	SDC3_ENST00000339394.6_Missense_Mutation_p.S250N			O75056	SDC3_HUMAN	syndecan 3	250	Ser/Thr-rich (mucin-like).					integral to membrane	cytoskeletal protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0393)|Colorectal(325;0.0466)|all_neural(195;0.0966)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)		STAD - Stomach adenocarcinoma(196;0.0197)|READ - Rectum adenocarcinoma(331;0.0649)		GGTAGCTGTGCTGACCAGCCT	0.711													T	31349520	C	T	31349520	3	4	364	1	0	0	0	0	1	0	0	0	14046	797	28	2	591	2	SDC3	1	31349520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1705240	31349520	217901101	322	23824											
PUM1	9698	broad.mit.edu	37	chr1	31454233	31454233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaactgctggacagcaagcGcattaggtctttggaacagc	11	9	11	10	1	2	0	1	0	1	0	2	2	2	2	0	3	6	3	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31454233G>A	ENST00000373747.3	-	8	1277	c.1178C>T	c.(1177-1179)gCg>gTg	p.A393V	PUM1_ENST00000373742.2_Missense_Mutation_p.A333V|PUM1_ENST00000426105.2_Missense_Mutation_p.A393V|PUM1_ENST00000373741.4_Missense_Mutation_p.A429V|PUM1_ENST00000423018.2_Missense_Mutation_p.A297V|PUM1_ENST00000440538.2_Missense_Mutation_p.A393V|PUM1_ENST00000257075.5_Missense_Mutation_p.A393V|PUM1_ENST00000424085.2_Missense_Mutation_p.A151V	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	393	Ala-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		GACAGCAAGCGCATTAGGTCT	0.463													A	31454233	G	A	31454233	3	1	364	1	0	0	0	0	1	0	0	0	12913	1087	38	1	2448	1	PUM1	1	31454233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104713	31454233	217796388	323	23825											
PUM1	9698	broad.mit.edu	37	chr1	31467908	31467908	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacatacaaacctaaaatCtttgacgtctgcatcaatcc	17	10	3	11	1	3	1	1	1	2	0	4	1	4	1	2	0	4	1	2	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31467908C>A	ENST00000373747.3	-	6	979	c.880G>T	c.(880-882)Gat>Tat	p.D294Y	PUM1_ENST00000373742.2_Missense_Mutation_p.D234Y|PUM1_ENST00000426105.2_Missense_Mutation_p.D294Y|PUM1_ENST00000373741.4_Missense_Mutation_p.D330Y|PUM1_ENST00000423018.2_Missense_Mutation_p.D198Y|PUM1_ENST00000440538.2_Missense_Mutation_p.D294Y|PUM1_ENST00000257075.5_Missense_Mutation_p.D294Y|PUM1_ENST00000424085.2_Intron	NM_001020658.1	NP_001018494.1	Q14671	PUM1_HUMAN	pumilio RNA-binding family member 1	294					cellular membrane organization|post-Golgi vesicle-mediated transport|regulation of translation	cytosol	RNA binding			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(17)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48		Colorectal(325;0.0211)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0381)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0232)|READ - Rectum adenocarcinoma(331;0.0681)		AACCTAAAATCTTTGACGTCT	0.373													A	31467908	C	A	31467908	3	1	364	1	0	0	0	0	1	0	0	0	12913	913	32	4	2754	4	PUM1	1	31467908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13675	31467908	217782713	324	23826											
SERINC2	347735	broad.mit.edu	37	chr1	31899543	31899543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctacttgctgtcgatcgCggccgtggcgctgatgttca	4	13	12	12	5	2	1	1	1	1	0	4	2	2	1	1	2	2	3	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:31899543C>T	ENST00000373710.1	+	7	953	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SERINC2_ENST00000536859.1_Missense_Mutation_p.A222V|SERINC2_ENST00000373709.3_Missense_Mutation_p.A218V|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536384.1_Missense_Mutation_p.A222V	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	218						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CTGTCGATCGCGGCCGTGGCG	0.597													T	31899543	C	T	31899543	3	4	364	1	0	0	0	0	1	0	0	0	14173	768	27	1	675	1	SERINC2	1	31899543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	431635	31899543	217351078	325	23827											
TINAGL1	64129	broad.mit.edu	37	chr1	32050780	32050780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccactgctaccccttcTcgggccgtgaacgagacgag	8	7	11	15	4	1	3	0	2	1	1	2	5	1	3	4	1	3	1	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32050780T>C	ENST00000271064.7	+	8	962	c.886T>C	c.(886-888)Tcg>Ccg	p.S296P	TINAGL1_ENST00000481165.1_3'UTR|TINAGL1_ENST00000457433.2_Missense_Mutation_p.S265P	NM_001204415.1|NM_022164.2	NP_001191344.1|NP_071447.1	Q9GZM7	TINAL_HUMAN	tubulointerstitial nephritis antigen-like 1	296					endosome transport|immune response|proteolysis	extracellular region	cysteine-type endopeptidase activity|extracellular matrix structural constituent|polysaccharide binding|scavenger receptor activity			breast(2)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(4)|prostate(1)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		STAD - Stomach adenocarcinoma(196;0.0526)|READ - Rectum adenocarcinoma(331;0.145)		CTACCCCTTCTCGGGCCGTGA	0.652													C	32050780	T	C	32050780	3	2	364	1	0	0	0	0	1	0	0	0	16022	1551	54	3	912	3	TINAGL1	1	32050780	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151237	32050780	217199841	326	23828											
COL16A1	1307	broad.mit.edu	37	chr1	32119490	32119490	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttactcctggcaagccctgCcgtccttctctgccaatctg	5	12	7	17	1	2	0	0	0	2	0	5	0	4	0	5	1	4	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32119490C>T	ENST00000373672.3	-	69	5028	c.4512G>A	c.(4510-4512)cgG>cgA	p.R1504R	RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|COL16A1_ENST00000271069.6_Silent_p.R1504R|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1504	Triple-helical region 1 (COL1) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		GCAAGCCCTGCCGTCCTTCTC	0.602													T	32119490	C	T	32119490	2	4	364	1	0	0	0	0	0	0	0	1	3704	726	26	2		2	COL16A1	1	32119490	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68710	32119490	217131131	327	23829											
COL16A1	1307	broad.mit.edu	37	chr1	32127979	32127979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatccaaaccatccagacCggcggggccctggaaacagg	11	3	11	16	2	0	1	0	0	0	1	2	2	2	2	6	5	2	0	6	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32127979C>T	ENST00000373672.3	-	58	4153	c.3637G>A	c.(3637-3639)Ggt>Agt	p.G1213S	COL16A1_ENST00000271069.6_Missense_Mutation_p.G1213S	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1213	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCATCCAGACCGGCGGGGCCC	0.622													T	32127979	C	T	32127979	3	4	364	1	0	0	0	0	1	0	0	0	3704	652	23	1	1233	1	COL16A1	1	32127979	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8489	32127979	217122642	328	23830											
COL16A1	1307	broad.mit.edu	37	chr1	32157670	32157670	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcgcctttctggcccTggggaaggaagaagcagagt	8	9	13	11	1	2	2	0	0	2	2	3	4	2	4	3	4	1	1	3	4	3	2	rs2228554		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32157670T>C	ENST00000373672.3	-	17	1711		c.e17-2		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TTTCTGGCCCTGGGGAAGGAA	0.642													C	32157670	T	C	32157670	5	2	364	1	0	0	0	0	0	0	1	0	3704	1594	55	3	3841	3	COL16A1	1	32157670	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29691	32157670	217092951	329	23831											
BAI2	576	broad.mit.edu	37	chr1	32203081	32203081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaggatgttggatgccaaGatggacaggcagaagttcag	13	8	14	6	0	2	2	2	0	0	2	2	5	2	5	1	4	1	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32203081G>A	ENST00000373658.3	-	20	3269	c.2928C>T	c.(2926-2928)atC>atT	p.I976I	BAI2_ENST00000257070.4_Silent_p.I976I|BAI2_ENST00000398547.1_Silent_p.I909I|BAI2_ENST00000527361.1_Silent_p.I976I|BAI2_ENST00000440175.2_Silent_p.I618I|BAI2_ENST00000398542.1_Silent_p.I909I|BAI2_ENST00000373655.2_Silent_p.I976I|BAI2_ENST00000398538.1_Silent_p.I964I|BAI2_ENST00000398556.3_Silent_p.I924I	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	976					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGGATGCCAAGATGGACAGGC	0.617													A	32203081	G	A	32203081	2	1	364	1	0	0	0	0	0	0	0	1	1304	932	33	2		2	BAI2	1	32203081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45411	32203081	217047540	330	23832											
SPOCD1	90853	broad.mit.edu	37	chr1	32259438	32259438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagggctttctggaagataTtgtccccgcagctcttggcg	6	13	12	10	2	2	1	0	0	2	1	3	2	3	2	2	3	1	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32259438T>C	ENST00000360482.2	-	12	2573	c.2444A>G	c.(2443-2445)aAt>aGt	p.N815S	SPOCD1_ENST00000533231.1_Missense_Mutation_p.N815S|SPOCD1_ENST00000257100.3_Missense_Mutation_p.N308S|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	815					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGAAGATATTGTCCCCGCA	0.572													C	32259438	T	C	32259438	3	2	364	1	0	0	0	0	1	0	0	0	15174	1493	52	3	1226	3	SPOCD1	1	32259438	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56357	32259438	216991183	331	23833											
SPOCD1	90853	broad.mit.edu	37	chr1	32279930	32279930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctgctctgcagaggcCtgtgctgacgcccccaggca	5	9	12	15	1	2	2	0	1	2	1	2	2	2	2	3	2	4	5	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32279930C>A	ENST00000360482.2	-	2	1134	c.1005G>T	c.(1003-1005)caG>caT	p.Q335H	SPOCD1_ENST00000533231.1_Missense_Mutation_p.Q335H|SPOCD1_ENST00000257100.3_Intron|SPOCD1_ENST00000373648.2_Missense_Mutation_p.Q335H	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	335					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGCAGAGGCCTGTGCTGACG	0.657													A	32279930	C	A	32279930	3	1	364	1	0	0	0	0	1	0	0	0	15174	680	24	4	2705	4	SPOCD1	1	32279930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20492	32279930	216970691	332	23834											
EIF3I	8668	broad.mit.edu	37	chr1	32688215	32688215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggagacctcctctttaCtgtggccaaggaccctgtga	9	9	11	12	1	1	2	0	1	1	1	2	5	2	3	4	3	1	0	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32688215C>T	ENST00000373586.1	+	2	152	c.80C>T	c.(79-81)aCt>aTt	p.T27I	EIF3I_ENST00000471486.1_3'UTR	NM_003757.2	NP_003748.1	Q13347	EIF3I_HUMAN	eukaryotic translation initiation factor 3, subunit I	27						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)				CTCCTCTTTACTGTGGCCAAG	0.587													T	32688215	C	T	32688215	3	4	364	1	0	0	0	0	1	0	0	0	5060	565	20	2	86	2	EIF3I	1	32688215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	408285	32688215	216562406	333	23835											
FAM167B	84734	broad.mit.edu	37	chr1	32713256	32713256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcgactcaatggactcCgcccttgagtggctccgacg	6	10	12	13	4	1	1	1	1	0	0	4	4	3	2	3	3	0	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32713256C>T	ENST00000373582.3	+	1	423	c.234C>T	c.(232-234)tcC>tcT	p.S78S		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	78										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAATGGACTCCGCCCTTGAGT	0.652													T	32713256	C	T	32713256	2	4	364	1	0	0	0	0	0	0	0	1	5529	639	23	1		1	FAM167B	1	32713256	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25041	32713256	216537365	334	23836											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800436	32800436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtgggtgaggaggcaGaagaatcacccccaccctcc	9	6	11	15	0	2	3	1	1	1	2	3	4	3	4	5	3	0	1	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32800436G>T	ENST00000329421.7	-	2	695	c.350C>A	c.(349-351)tCt>tAt	p.S117Y		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	117						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TGAGGAGGCAGAAGAATCACC	0.572													T	32800436	G	T	32800436	3	4	364	1	0	0	0	0	1	0	0	0	9385	942	33	4	241	4	MARCKSL1	1	32800436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87180	32800436	216450185	335	23837											
BSDC1	55108	broad.mit.edu	37	chr1	32841937	32841937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacccgtaagtctgtgggcGcctcctccctcagagtctct	6	10	9	16	2	3	1	1	0	2	1	6	1	5	1	4	1	0	1	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:32841937G>A	ENST00000341071.7	-	9	1144	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	BSDC1_ENST00000455895.2_Missense_Mutation_p.A361V|BSDC1_ENST00000446293.2_Missense_Mutation_p.A378V|BSDC1_ENST00000449308.1_Missense_Mutation_p.A361V|BSDC1_ENST00000413080.1_Missense_Mutation_p.A300V|BSDC1_ENST00000526031.1_Missense_Mutation_p.A266V|BSDC1_ENST00000419121.2_Missense_Mutation_p.A305V			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	361							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GTCTGTGGGCGCCTCCTCCCT	0.602													A	32841937	G	A	32841937	3	1	364	1	0	0	0	0	1	0	0	0	1537	1087	38	1	222	1	BSDC1	1	32841937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41501	32841937	216408684	336	23838											
RBBP4	5928	broad.mit.edu	37	chr1	33133834	33133834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttattcacagaatttggaGgttttggttcagttagtgga	10	17	11	3	0	2	1	2	0	0	1	2	3	2	3	0	4	0	3	0	4	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33133834G>T	ENST00000373493.5	+	4	478	c.319G>T	c.(319-321)Ggt>Tgt	p.G107C	RBBP4_ENST00000524393.1_Intron|RBBP4_ENST00000458695.2_Missense_Mutation_p.G72C|RBBP4_ENST00000373485.1_Missense_Mutation_p.G107C|RBBP4_ENST00000414241.3_Missense_Mutation_p.G106C|RBBP4_ENST00000544435.1_Intron	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	107					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AGAATTTGGAGGTTTTGGTTC	0.368													T	33133834	G	T	33133834	3	4	364	1	0	0	0	0	1	0	0	0	13189	1000	35	4	333	4	RBBP4	1	33133834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291897	33133834	216116787	337	23839											
RBBP4	5928	broad.mit.edu	37	chr1	33145306	33145306	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaaggacaagggtcctaGatatgtctttacttgttgtg	10	13	11	7	0	1	2	0	0	1	2	2	3	2	3	2	2	1	1	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33145306G>T	ENST00000373493.5	+	12	1437	c.1278G>T	c.(1276-1278)taG>taT	p.*426Y	RBBP4_ENST00000458695.2_Nonstop_Mutation_p.*391Y|RBBP4_ENST00000373485.1_Intron|RBBP4_ENST00000414241.3_Nonstop_Mutation_p.*425Y|RBBP4_ENST00000544435.1_Nonstop_Mutation_p.*174Y	NM_001135255.1|NM_005610.2	NP_001128727.1|NP_005601.1	Q09028	RBBP4_HUMAN	retinoblastoma binding protein 4	0					cell cycle|CenH3-containing nucleosome assembly at centromere|DNA replication|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|ESC/E(Z) complex|NuRD complex|NURF complex|Sin3 complex	histone binding|histone deacetylase binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				AAGGGTCCTAGATATGTCTTT	0.388													T	33145306	G	T	33145306	4	4	364	1	0	0	0	0	0	0	0	0	13189	937	33	4	1324	4	RBBP4	1	33145306	Nonstop_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11472	33145306	216105315	338	23840											
KIAA1522	57648	broad.mit.edu	37	chr1	33235702	33235702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgacacctttgttggcCggtccacgggtacccgggcc	5	8	15	13	3	0	1	0	1	0	0	1	2	1	2	5	5	1	2	5	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33235702C>T	ENST00000401073.2	+	6	992	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	KIAA1522_ENST00000373480.1_Missense_Mutation_p.R249W|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R260W|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	249										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTTTGTTGGCCGGTCCACGGG	0.687													T	33235702	C	T	33235702	3	4	364	1	0	0	0	0	1	0	0	0	8296	643	23	1	944	1	KIAA1522	1	33235702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90396	33235702	216014919	339	23841											
KIAA1522	57648	broad.mit.edu	37	chr1	33236827	33236827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccaggagccctaacccaGctgcccctgctctagccgcc	7	5	9	20	1	1	0	0	0	1	0	1	1	1	1	7	1	7	2	7	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33236827G>T	ENST00000401073.2	+	6	2117	c.2047G>T	c.(2047-2049)Gct>Tct	p.A683S	KIAA1522_ENST00000373480.1_Missense_Mutation_p.A624S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.A635S|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	624	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCTAACCCAGCTGCCCCTGC	0.632													T	33236827	G	T	33236827	3	4	364	1	0	0	0	0	1	0	0	0	8296	971	34	4	2069	4	KIAA1522	1	33236827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1125	33236827	216013794	340	23842											
KIAA1522	57648	broad.mit.edu	37	chr1	33237550	33237550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagggcgggccagcccagtgCctgccccctcctcagggctc	4	5	13	19	1	1	0	1	0	0	0	3	0	2	0	6	3	3	1	6	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33237550C>T	ENST00000401073.2	+	6	2840	c.2770C>T	c.(2770-2772)Cct>Tct	p.P924S	KIAA1522_ENST00000373480.1_Missense_Mutation_p.P865S|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P876S|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	865	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CAGCCCAGTGCCTGCCCCCTC	0.706													T	33237550	C	T	33237550	3	4	364	1	0	0	0	0	1	0	0	0	8296	739	26	2	2792	2	KIAA1522	1	33237550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723	33237550	216013071	341	23843											
YARS	8565	broad.mit.edu	37	chr1	33246731	33246731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctgaattcttggcagggCctttggccattggctctggg	4	14	14	9	0	3	1	0	1	3	0	3	1	3	1	2	5	0	3	2	5	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33246731C>T	ENST00000373477.4	-	10	1966	c.1058G>A	c.(1057-1059)gGc>gAc	p.G353D	YARS_ENST00000469100.1_5'UTR	NM_003680.3	NP_003671.1	P54577	SYYC_HUMAN	tyrosyl-tRNA synthetase	353					apoptosis|tyrosyl-tRNA aminoacylation	cytosol|extracellular space|nucleus|soluble fraction	ATP binding|interleukin-8 receptor binding|signal transducer activity|tRNA binding|tyrosine-tRNA ligase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)			L-Tyrosine(DB00135)	CTTGGCAGGGCCTTTGGCCAT	0.512													T	33246731	C	T	33246731	3	4	364	1	0	0	0	0	1	0	0	0	17569	739	26	2	544	2	YARS	1	33246731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9181	33246731	216003890	342	23844											
S100PBP	64766	broad.mit.edu	37	chr1	33292324	33292324	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaataactctgcctggaaTgggccccagctctcttcttc	7	11	7	16	0	3	0	0	0	3	0	5	1	3	1	4	2	3	1	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33292324T>C	ENST00000373475.5	+	3	878	c.624T>C	c.(622-624)aaT>aaC	p.N208N	S100PBP_ENST00000373476.1_Silent_p.N208N|S100PBP_ENST00000398243.3_Silent_p.N208N|S100PBP_ENST00000356689.3_3'UTR	NM_022753.3	NP_073590.2	Q96BU1	S1PBP_HUMAN	S100P binding protein	208						nucleus	calcium-dependent protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|stomach(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGCCTGGAATGGGCCCCAGC	0.443													C	33292324	T	C	33292324	2	2	364	1	0	0	0	0	0	0	0	1	13882	1461	51	3		3	S100PBP	1	33292324	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45593	33292324	215958297	343	23845											
FNDC5	252995	broad.mit.edu	37	chr1	33333375	33333375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacatgaacaggaccaCgacgatgatcagcacctcgc	12	5	9	15	3	1	2	1	2	0	0	2	5	1	3	3	1	3	1	3	1	1	0	rs138930492	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33333375C>T	ENST00000373471.3	-	4	544	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	FNDC5_ENST00000609187.1_Missense_Mutation_p.V85M|FNDC5_ENST00000496770.1_Missense_Mutation_p.V85M	NM_001171940.1|NM_153756.2	NP_001165411.2|NP_715637.2	Q8NAU1	FNDC5_HUMAN	fibronectin type III domain containing 5	0						integral to membrane|peroxisomal membrane				breast(1)|large_intestine(1)|lung(2)|ovary(1)	5		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				AACAGGACCACGACGATGATC	0.552													T	33333375	C	T	33333375	3	4	364	1	0	0	0	0	1	0	0	0	6021	536	19	1	245	1	FNDC5	1	33333375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41051	33333375	215917246	344	23846											
HPCA	3208	broad.mit.edu	37	chr1	33354871	33354871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggaggagatgctggagatCgtgcaggtgggcccctgggc	6	6	20	9	2	0	2	0	0	0	2	1	5	0	3	2	6	2	2	2	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33354871C>T	ENST00000373467.3	+	2	474	c.372C>T	c.(370-372)atC>atT	p.I124I	HPCA_ENST00000480118.1_3'UTR	NM_002143.2	NP_002134.2	P84074	HPCA_HUMAN	hippocalcin	124	EF-hand 3.						actin binding|calcium ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)				TGCTGGAGATCGTGCAGGTGG	0.642													T	33354871	C	T	33354871	2	4	364	1	0	0	0	0	0	0	0	1	7384	874	31	1		1	HPCA	1	33354871	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21496	33354871	215895750	345	23847											
TMEM54	113452	broad.mit.edu	37	chr1	33360916	33360916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacttaccatgtggtggCtgcttttcccccaccagggc	6	10	12	13	0	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33360916C>T	ENST00000373463.3	-	5	703	c.584G>A	c.(583-585)aGc>aAc	p.S195N	TMEM54_ENST00000329151.5_Missense_Mutation_p.S142N|TMEM54_ENST00000475208.1_5'UTR	NM_033504.2	NP_277039.1	Q969K7	TMM54_HUMAN	transmembrane protein 54	195						integral to membrane				endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CATGTGGTGGCTGCTTTTCCC	0.627													T	33360916	C	T	33360916	3	4	364	1	0	0	0	0	1	0	0	0	16280	797	28	2	92	2	TMEM54	1	33360916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6045	33360916	215889705	346	23848											
ADC	113451	broad.mit.edu	37	chr1	33549655	33549655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccggcccttttatgctgTcaagtgcaacagcagcccag	9	9	10	13	1	1	0	1	0	0	0	2	0	2	0	3	1	5	3	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33549655T>C	ENST00000294517.6	+	5	793	c.206T>C	c.(205-207)gTc>gCc	p.V69A	ADC_ENST00000373440.1_Missense_Mutation_p.V69A|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Missense_Mutation_p.V69A|ADC_ENST00000373441.1_Missense_Mutation_p.V69A|ADC_ENST00000373443.3_Missense_Mutation_p.V69A|ADC_ENST00000358680.3_Missense_Mutation_p.V69A	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	69					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TTTTATGCTGTCAAGTGCAAC	0.592													C	33549655	T	C	33549655	3	2	364	1	0	0	0	0	1	0	0	0	287	1667	58	3	212	3	ADC	1	33549655	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	188739	33549655	215700966	347	23849											
TRIM62	55223	broad.mit.edu	37	chr1	33612935	33612935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaagatgagcaagcctTggtcatagtccaggaagaca	14	8	12	7	0	1	4	1	1	0	3	2	5	2	5	2	2	2	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33612935T>C	ENST00000291416.5	-	5	1504	c.1271A>G	c.(1270-1272)cAa>cGa	p.Q424R	TRIM62_ENST00000543586.1_Missense_Mutation_p.Q303R	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	424	B30.2/SPRY.					intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GAGCAAGCCTTGGTCATAGTC	0.567													C	33612935	T	C	33612935	3	2	364	1	0	0	0	0	1	0	0	0	16638	1812	63	3	160	3	TRIM62	1	33612935	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63280	33612935	215637686	348	23850											
TRIM62	55223	broad.mit.edu	37	chr1	33646764	33646764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcgcctggcagggtcgCgcggcgcggcgcgcgttgag	2	6	20	13	10	0	1	0	1	0	0	2	1	0	1	1	4	1	2	1	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33646764C>T	ENST00000291416.5	-	1	503	c.270G>A	c.(268-270)gcG>gcA	p.A90A	TRIM62_ENST00000485148.1_5'UTR	NM_018207.2	NP_060677.2	Q9BVG3	TRI62_HUMAN	tripartite motif containing 62	90						intracellular	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)				GGCAGGGTCGCGCGGCGCGGC	0.687													T	33646764	C	T	33646764	2	4	364	1	0	0	0	0	0	0	0	1	16638	755	27	1		1	TRIM62	1	33646764	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33829	33646764	215603857	349	23851											
PHC2	1912	broad.mit.edu	37	chr1	33799704	33799704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtaccgggaaaggctccGccccctcctggatcacaaac	9	6	9	17	3	1	0	1	0	0	0	4	2	4	2	6	3	2	2	6	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33799704G>A	ENST00000257118.5	-	9	1798	c.1745C>T	c.(1744-1746)gCg>gTg	p.A582V	PHC2_ENST00000373416.1_Missense_Mutation_p.A47V|PHC2_ENST00000373418.3_Missense_Mutation_p.A47V|PHC2_ENST00000373422.3_Missense_Mutation_p.A188V|PHC2_ENST00000431992.1_Missense_Mutation_p.A553V|PHC2_ENST00000419414.2_Missense_Mutation_p.A583V|PHC2_ENST00000485928.1_Intron	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	582					multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAAAGGCTCCGCCCCCTCCTG	0.438													A	33799704	G	A	33799704	3	1	364	1	0	0	0	0	1	0	0	0	11894	1087	38	1	855	1	PHC2	1	33799704	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152940	33799704	215450917	350	23852											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960018	33960018	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagaaagttcttctgaaGaggacttagaaaaacttatt	16	11	9	5	0	2	4	0	1	2	3	2	5	2	5	0	2	1	2	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960018G>T	ENST00000361328.3	+	8	2227	c.2074G>T	c.(2074-2076)Gag>Tag	p.E692*		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	692					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TTCTTCTGAAGAGGACTTAGA	0.463													T	33960018	G	T	33960018	4	4	364	1	0	0	0	0	0	1	0	0	18330	943	33	4	2100	4	ZSCAN20	1	33960018	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160314	33960018	215290603	351	23853											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960239	33960239	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacactggagagaagccCtataaatgccttgaatgtgg	13	9	10	9	0	0	2	0	1	0	1	1	4	1	3	3	2	2	0	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:33960239C>A	ENST00000361328.3	+	8	2448	c.2295C>A	c.(2293-2295)ccC>ccA	p.P765P		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	765					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GAGAGAAGCCCTATAAATGCC	0.433													A	33960239	C	A	33960239	2	1	364	1	0	0	0	0	0	0	0	1	18330	668	24	4		4	ZSCAN20	1	33960239	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221	33960239	215290382	352	23854											
CSMD2	114784	broad.mit.edu	37	chr1	34042963	34042963	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgggtacagatggccatGctgtgtcccaccaggcggta	7	8	14	12	2	0	1	0	0	0	1	1	1	1	1	4	4	3	3	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34042963G>A	ENST00000373381.4	-	49	7685	c.7509C>T	c.(7507-7509)agC>agT	p.S2503S		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2505	Sushi 14.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGATGGCCATGCTGTGTCCCA	0.637													A	34042963	G	A	34042963	2	1	364	1	0	0	0	0	0	0	0	1	3978	1310	46	2		2	CSMD2	1	34042963	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82724	34042963	215207658	353	23855											
CSMD2	114784	broad.mit.edu	37	chr1	34052140	34052140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtccttcaaactgcaggtAggttccaagtttgcaggtca	9	12	11	9	0	2	0	2	0	0	0	4	0	4	0	2	4	3	5	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052140A>G	ENST00000373381.4	-	46	7191	c.7015T>C	c.(7015-7017)Tac>Cac	p.Y2339H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2341	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AACTGCAGGTAGGTTCCAAGT	0.478													G	34052140	A	G	34052140	3	3	364	1	0	0	0	0	1	0	0	0	3978	420	15	3	3534	3	CSMD2	1	34052140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9177	34052140	215198481	354	23856											
CSMD2	114784	broad.mit.edu	37	chr1	34052210	34052210	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaggcatctgtagcgtacGatgtcacctgtcaaagaaag	12	8	13	8	2	3	1	2	0	1	1	3	3	3	2	1	2	2	3	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34052210G>A	ENST00000373381.4	-	46	7121	c.6945C>T	c.(6943-6945)atC>atT	p.I2315I		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	2317	Sushi 13.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TGTAGCGTACGATGTCACCTG	0.483													A	34052210	G	A	34052210	2	1	364	1	0	0	0	0	0	0	0	1	3978	1048	37	1		1	CSMD2	1	34052210	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70	34052210	215198411	355	23857											
CSMD2	114784	broad.mit.edu	37	chr1	34083159	34083159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattcaccaagtagcgctcGccagtcttcaccccgttact	8	11	6	16	3	4	0	3	0	1	0	5	0	4	0	4	0	2	3	4	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34083159G>A	ENST00000373381.4	-	38	6062	c.5886C>T	c.(5884-5886)ggC>ggT	p.G1962G	CSMD2_ENST00000373380.1_Silent_p.G835G|CSMD2_ENST00000373377.1_Silent_p.G61G|CSMD2_ENST00000373388.2_Silent_p.G61G	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1922	Sushi 11.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AGTAGCGCTCGCCAGTCTTCA	0.572													A	34083159	G	A	34083159	2	1	364	1	0	0	0	0	0	0	0	1	3978	1074	38	1		1	CSMD2	1	34083159	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30949	34083159	215167462	356	23858											
CSMD2	114784	broad.mit.edu	37	chr1	34090742	34090742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccctgcagggcatagccGgagttgcattcgaagcggac	9	6	14	12	3	0	0	0	0	0	0	1	4	0	2	3	3	4	4	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34090742G>A	ENST00000373381.4	-	34	5585	c.5409C>T	c.(5407-5409)tcC>tcT	p.S1803S	CSMD2_ENST00000373380.1_Silent_p.S676S|CSMD2_ENST00000373377.1_5'UTR|CSMD2_ENST00000373388.2_5'UTR	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1763	CUB 11.					integral to membrane|plasma membrane	protein binding	p.S1763S(1)		NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GGGCATAGCCGGAGTTGCATT	0.647													A	34090742	G	A	34090742	2	1	364	1	0	0	0	0	0	0	0	1	3978	1103	39	1		1	CSMD2	1	34090742	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7583	34090742	215159879	357	23859											
CSMD2	114784	broad.mit.edu	37	chr1	34180325	34180325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaactgcaagcccttccGgatgctgtaggctgggacct	8	8	12	13	1	0	0	0	0	0	0	1	2	1	2	4	3	4	4	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34180325G>A	ENST00000373381.4	-	21	3444	c.3268C>T	c.(3268-3270)Cgg>Tgg	p.R1090W		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1050	Sushi 6.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				AAGCCCTTCCGGATGCTGTAG	0.642													A	34180325	G	A	34180325	3	1	364	1	0	0	0	0	1	0	0	0	3978	1115	39	1	7511	1	CSMD2	1	34180325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89583	34180325	215070296	358	23860											
CSMD2	114784	broad.mit.edu	37	chr1	34209090	34209090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgaaggccaggtggatgCggctctcaggcctggccagg	6	7	17	11	2	1	1	1	1	1	0	2	2	1	2	3	7	1	2	3	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34209090C>T	ENST00000373381.4	-	14	2140	c.1964G>A	c.(1963-1965)cGc>cAc	p.R655H		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	615	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CAGGTGGATGCGGCTCTCAGG	0.612													T	34209090	C	T	34209090	3	4	364	1	0	0	0	0	1	0	0	0	3978	768	27	1	8843	1	CSMD2	1	34209090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28765	34209090	215041531	359	23861											
CSMD2	114784	broad.mit.edu	37	chr1	34238175	34238175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgctcacttacacacgCagcctggcttcttagccgac	7	10	7	17	2	2	0	1	0	1	0	3	1	3	0	3	1	4	3	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34238175C>T	ENST00000373381.4	-	13	2017	c.1841G>A	c.(1840-1842)tGc>tAc	p.C614Y	CSMD2_ENST00000338325.1_Missense_Mutation_p.C222Y	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	574	CUB 4.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				CTTACACACGCAGCCTGGCTT	0.582													T	34238175	C	T	34238175	3	4	364	1	0	0	0	0	1	0	0	0	3978	710	25	2	8970	2	CSMD2	1	34238175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29085	34238175	215012446	360	23862											
HMGB4	127540	broad.mit.edu	37	chr1	34330140	34330140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgaagagggagaacccGaactggtcggtggtgcaggt	10	6	17	8	2	0	3	0	1	0	2	1	5	0	3	1	5	4	2	1	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34330140G>A	ENST00000522796.1	+	4	2253	c.348G>A	c.(346-348)ccG>ccA	p.P116P	CSMD2_ENST00000373381.4_Intron|HMGB4_ENST00000425537.1_3'UTR|HMGB4_ENST00000519684.1_Silent_p.P116P			B2R4X7	B2R4X7_HUMAN	high mobility group box 4	116						nucleus	DNA binding	p.P116P(1)		NS(1)|breast(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGGAGAACCCGAACTGGTCGG	0.567													A	34330140	G	A	34330140	2	1	364	1	0	0	0	0	0	0	0	1	7283	1045	37	1		1	HMGB4	1	34330140	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91965	34330140	214920481	361	23863											
C1orf94	84970	broad.mit.edu	37	chr1	34663184	34663184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggacagaggacaggggcCgcatcctaggtgactccaac	11	4	15	11	1	0	2	0	1	0	1	2	4	2	4	3	6	1	1	3	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34663184C>T	ENST00000488417.1	+	2	799	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	C1orf94_ENST00000373374.3_Missense_Mutation_p.R37C	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	37							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				GGACAGGGGCCGCATCCTAGG	0.542													T	34663184	C	T	34663184	3	4	364	1	0	0	0	0	1	0	0	0	2092	652	23	1	685	1	C1orf94	1	34663184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	333044	34663184	214587437	362	23864											
C1orf94	84970	broad.mit.edu	37	chr1	34684349	34684349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttcttccagtgggaatgGcataaacttttagatctcct	9	17	7	8	0	2	1	0	0	2	1	4	2	3	2	2	2	1	1	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:34684349G>A	ENST00000488417.1	+	7	1904	c.1784G>A	c.(1783-1785)gGc>gAc	p.G595D	C1orf94_ENST00000373374.3_Missense_Mutation_p.G405D	NM_001134734.1	NP_001128206.1	Q6P1W5	CA094_HUMAN	chromosome 1 open reading frame 94	405							protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(15)|skin(4)|upper_aerodigestive_tract(2)	32		Myeloproliferative disorder(586;0.0393)				AGTGGGAATGGCATAAACTTT	0.507													A	34684349	G	A	34684349	3	1	364	1	0	0	0	0	1	0	0	0	2092	1203	42	2	1810	2	C1orf94	1	34684349	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21165	34684349	214566272	363	23865											
GJA4	2701	broad.mit.edu	37	chr1	35260154	35260154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaaggagggggagctgCgggcactgccggccaaggac	9	2	20	10	2	0	1	0	0	0	1	0	4	0	4	2	7	3	3	2	7	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35260154C>T	ENST00000342280.4	+	2	428	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W		NM_002060.2	NP_002051.2	P35212	CXA4_HUMAN	gap junction protein, alpha 4, 37kDa	114					cell-cell junction assembly	integral to plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(4)|stomach(1)	14		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				GGGGGAGCTGCGGGCACTGCC	0.652													T	35260154	C	T	35260154	3	4	364	1	0	0	0	0	1	0	0	0	6459	759	27	1	342	1	GJA4	1	35260154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	575805	35260154	213990467	364	23866											
DLGAP3	58512	broad.mit.edu	37	chr1	35370053	35370053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtgcaggcaaggcagCggccttccgacccgcccgag	7	4	14	16	4	0	0	0	0	0	0	1	2	1	0	5	3	3	3	5	3	1	1	rs141061512	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35370053C>T	ENST00000373347.1	-	3	1200	c.932G>A	c.(931-933)cGc>cAc	p.R311H	DLGAP3_ENST00000235180.4_Missense_Mutation_p.R311H			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	311					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GGCAAGGCAGCGGCCTTCCGA	0.647													T	35370053	C	T	35370053	3	4	364	1	0	0	0	0	1	0	0	0	4600	768	27	1	2047	1	DLGAP3	1	35370053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109899	35370053	213880568	365	23867											
ZMYM6	9204	broad.mit.edu	37	chr1	35457900	35457900	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttggtctgtgtgacgggtTtgcatgatatgcctttgttc	4	17	12	8	1	1	2	0	2	1	0	2	2	1	2	2	2	2	3	2	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457900T>C	ENST00000357182.4	-	15	2308	c.2081A>G	c.(2080-2082)aAa>aGa	p.K694R	ZMYM6_ENST00000487874.1_Missense_Mutation_p.K694R|ZMYM6_ENST00000373340.2_Missense_Mutation_p.K694R|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	694					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TGTGACGGGTTTGCATGATAT	0.433													C	35457900	T	C	35457900	3	2	364	1	0	0	0	0	1	0	0	0	17805	1841	64	3	1904	3	ZMYM6	1	35457900	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87847	35457900	213792721	366	23868											
ZMYM6	9204	broad.mit.edu	37	chr1	35457973	35457973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggaaatttcatagcatCttcctgtgtactttcctagt	10	16	7	8	0	2	1	1	0	1	1	4	2	4	2	2	1	2	2	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35457973C>A	ENST00000357182.4	-	15	2235	c.2008G>T	c.(2008-2010)Gat>Tat	p.D670Y	ZMYM6_ENST00000487874.1_Missense_Mutation_p.D670Y|ZMYM6_ENST00000373340.2_Missense_Mutation_p.D670Y|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	670					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				TTCATAGCATCTTCCTGTGTA	0.373													A	35457973	C	A	35457973	3	1	364	1	0	0	0	0	1	0	0	0	17805	913	32	4	1977	4	ZMYM6	1	35457973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73	35457973	213792648	367	23869											
SFPQ	6421	broad.mit.edu	37	chr1	35650064	35650064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaaatatcacatctaaaatCggggttttttgtttgggcct	10	16	8	7	1	2	0	1	0	1	0	3	0	2	0	1	3	0	2	1	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35650064C>T	ENST00000357214.5	-	10	2215	c.2117G>A	c.(2116-2118)cGa>cAa	p.R706Q		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	706					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CATCTAAAATCGGGGTTTTTT	0.413			T	TFE3	papillary renal cell								T	35650064	C	T	35650064	3	4	364	1	0	0	0	0	1	0	0	0	14253	884	31	1	10	1	SFPQ	1	35650064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192091	35650064	213600557	368	23870											
SFPQ	6421	broad.mit.edu	37	chr1	35654958	35654958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaacgtgccatgctgggCaaaacgaggaggggtttctc	10	8	13	10	2	2	0	1	0	1	0	3	2	2	1	1	4	4	3	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35654958C>T	ENST00000357214.5	-	5	1539	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T		NM_005066.2	NP_005057.1	P23246	SFPQ_HUMAN	splicing factor proline/glutamine-rich	481					alternative nuclear mRNA splicing, via spliceosome|DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|nucleotide binding|protein binding|RNA binding		SFPQ/TFE3(6)	NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.196)				CCATGCTGGGCAAAACGAGGA	0.393			T	TFE3	papillary renal cell								T	35654958	C	T	35654958	3	4	364	1	0	0	0	0	1	0	0	0	14253	710	25	2	706	2	SFPQ	1	35654958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4894	35654958	213595663	369	23871											
ZMYM4	9202	broad.mit.edu	37	chr1	35847203	35847203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactttgcagtgatgcctgCttctctaagtttcgttctgc	7	16	8	10	1	2	1	0	1	2	0	4	1	2	1	1	0	5	4	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35847203C>T	ENST00000314607.6	+	9	1493	c.1413C>T	c.(1411-1413)tgC>tgT	p.C471C	ZMYM4_ENST00000373297.2_Silent_p.C471C	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	471					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GTGATGCCTGCTTCTCTAAGT	0.428													T	35847203	C	T	35847203	2	4	364	1	0	0	0	0	0	0	0	1	17803	805	28	2		2	ZMYM4	1	35847203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192245	35847203	213403418	370	23872											
ZMYM4	9202	broad.mit.edu	37	chr1	35857931	35857931	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctcagcctacagtGaattctaacagtgtcttaca	10	12	7	12	0	3	1	1	1	2	0	3	1	3	1	2	0	6	2	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35857931G>T	ENST00000314607.6	+	16	2786	c.2706G>T	c.(2704-2706)gtG>gtT	p.V902V	ZMYM4_ENST00000373297.2_Silent_p.V813V	NM_005095.2	NP_005086.2	Q5VZL5	ZMYM4_HUMAN	zinc finger, MYM-type 4	902					multicellular organismal development		DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(16)|ovary(2)|prostate(3)|skin(2)	54		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				AGCCTACAGTGAATTCTAACA	0.453													T	35857931	G	T	35857931	2	4	364	1	0	0	0	0	0	0	0	1	17803	1277	45	4		4	ZMYM4	1	35857931	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10728	35857931	213392690	371	23873											
KIAA0319L	79932	broad.mit.edu	37	chr1	35921616	35921616	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaccattccctcctacctGcatctccaccactttccctt	7	12	3	19	0	1	0	0	0	1	0	5	1	4	1	7	1	3	1	7	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35921616G>A	ENST00000325722.3	-	10	1888	c.1654C>T	c.(1654-1656)Cag>Tag	p.Q552*	KIAA0319L_ENST00000485551.1_5'UTR	NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	552	PKD 3.					cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CCTCCTACCTGCATCTCCACC	0.483													A	35921616	G	A	35921616	4	1	364	1	0	0	0	0	0	1	0	0	8227	1328	46	2	1543	2	KIAA0319L	1	35921616	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63685	35921616	213329005	372	23874											
KIAA0319L	79932	broad.mit.edu	37	chr1	35972362	35972362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtcactggaagatacagCaggtctgagtgcagctctgg	9	9	14	9	0	3	2	1	1	2	1	3	3	3	3	0	4	4	3	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:35972362C>T	ENST00000325722.3	-	3	751	c.517G>A	c.(517-519)Gct>Act	p.A173T		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	173						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GAAGATACAGCAGGTCTGAGT	0.498													T	35972362	C	T	35972362	3	4	364	1	0	0	0	0	1	0	0	0	8227	710	25	2	2708	2	KIAA0319L	1	35972362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50746	35972362	213278259	373	23875											
NCDN	23154	broad.mit.edu	37	chr1	36026482	36026482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttgagctctgccagctgCtgcccctctttttgcccccg	3	13	9	16	1	2	1	0	1	2	0	2	1	2	1	5	0	6	4	5	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36026482C>A	ENST00000373243.2	+	3	1113	c.730C>A	c.(730-732)Ctg>Atg	p.L244M	NCDN_ENST00000373253.3_Missense_Mutation_p.L227M|NCDN_ENST00000356090.4_Missense_Mutation_p.L244M	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	244					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCAGCTGCTGCCCCTCTT	0.637													A	36026482	C	A	36026482	3	1	364	1	0	0	0	0	1	0	0	0	10290	796	28	4	740	4	NCDN	1	36026482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54120	36026482	213224139	374	23876											
NCDN	23154	broad.mit.edu	37	chr1	36028080	36028080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggagacctcatccttgCgtaaggaggtgtgccagctg	8	8	14	11	2	1	1	1	0	0	1	2	4	2	2	4	3	3	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028080C>T	ENST00000373243.2	+	4	1614	c.1231C>T	c.(1231-1233)Cgt>Tgt	p.R411C	NCDN_ENST00000373253.3_Missense_Mutation_p.R394C|NCDN_ENST00000356090.4_Missense_Mutation_p.R411C	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	411					neuron projection development	cytosol|dendrite|neuronal cell body		p.R394C(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTCATCCTTGCGTAAGGAGGT	0.622													T	36028080	C	T	36028080	3	4	364	1	0	0	0	0	1	0	0	0	10290	768	27	1	1245	1	NCDN	1	36028080	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1598	36028080	213222541	375	23877											
NCDN	23154	broad.mit.edu	37	chr1	36028226	36028226	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccacctggccaggagaCgctctccggtgagtctgtag	6	7	15	13	2	2	2	0	1	2	1	3	3	2	2	4	4	0	2	4	4	1	1	rs146734510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36028226C>T	ENST00000373243.2	+	4	1760	c.1377C>T	c.(1375-1377)gaC>gaT	p.D459D	NCDN_ENST00000373253.3_Silent_p.D442D|NCDN_ENST00000356090.4_Silent_p.D459D	NM_014284.2	NP_055099.1	Q9UBB6	NCDN_HUMAN	neurochondrin	459					neuron projection development	cytosol|dendrite|neuronal cell body				breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|pancreas(1)|skin(2)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				GGCCAGGAGACGCTCTCCGGT	0.597													T	36028226	C	T	36028226	2	4	364	1	0	0	0	0	0	0	0	1	10290	535	19	1		1	NCDN	1	36028226	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146	36028226	213222395	376	23878											
PSMB2	5690	broad.mit.edu	37	chr1	36102014	36102014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatatcttttcactcatCttaaacatcttgtcatgatc	12	17	3	9	0	6	1	3	1	3	0	7	1	6	1	0	0	1	1	0	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36102014C>A	ENST00000373237.3	-	2	522	c.111G>T	c.(109-111)aaG>aaT	p.K37N		NM_002794.4	NP_002785.1	P49721	PSB2_HUMAN	proteasome (prosome, macropain) subunit, beta type, 2	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|large_intestine(2)	3		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)			Bortezomib(DB00188)	TTTCACTCATCTTAAACATCT	0.358													A	36102014	C	A	36102014	3	1	364	1	0	0	0	0	1	0	0	0	12762	912	32	4	514	4	PSMB2	1	36102014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73788	36102014	213148607	377	23879											
CLSPN	63967	broad.mit.edu	37	chr1	36205109	36205109	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacacctctgcctcatcCtccaggtatttcctcaacct	7	12	4	18	0	3	1	2	1	1	0	6	1	6	1	7	1	2	1	7	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36205109C>A	ENST00000251195.5	-	19	3261	c.3165G>T	c.(3163-3165)gaG>gaT	p.E1055D	CLSPN_ENST00000520551.1_Missense_Mutation_p.E1002D|RP11-435D7.3_ENST00000373226.2_RNA|CLSPN_ENST00000373220.3_Missense_Mutation_p.E991D|CLSPN_ENST00000318121.3_Missense_Mutation_p.E1055D			Q9HAW4	CLSPN_HUMAN	claspin	1055					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				CTGCCTCATCCTCCAGGTATT	0.398													A	36205109	C	A	36205109	3	1	364	1	0	0	0	0	1	0	0	0	3591	680	24	4	882	4	CLSPN	1	36205109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103095	36205109	213045512	378	23880											
CLSPN	63967	broad.mit.edu	37	chr1	36214109	36214109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccacggcctgtttgtctgTtgcaaggctgataggatgga	7	12	13	9	1	1	1	0	1	1	0	2	3	2	3	2	4	1	4	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36214109T>C	ENST00000251195.5	-	13	2465	c.2369A>G	c.(2368-2370)aAc>aGc	p.N790S	CLSPN_ENST00000520551.1_Missense_Mutation_p.N737S|CLSPN_ENST00000373220.3_Missense_Mutation_p.N726S|CLSPN_ENST00000318121.3_Missense_Mutation_p.N790S			Q9HAW4	CLSPN_HUMAN	claspin	790					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGTTTGTCTGTTGCAAGGCTG	0.488													C	36214109	T	C	36214109	3	2	364	1	0	0	0	0	1	0	0	0	3591	1725	60	3	1702	3	CLSPN	1	36214109	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9000	36214109	213036512	379	23881											
ADPRHL2	54936	broad.mit.edu	37	chr1	36558763	36558763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcttcctacgctgcatggagCcagaccctgagatcccttct	7	10	9	15	1	1	2	0	1	1	2	3	4	3	3	4	1	3	3	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36558763C>A	ENST00000373178.4	+	6	898	c.868C>A	c.(868-870)Cca>Aca	p.P290T		NM_017825.2	NP_060295.1	Q9NX46	ARHL2_HUMAN	ADP-ribosylhydrolase like 2	290						cytoplasm|nucleus	metal ion binding|poly(ADP-ribose) glycohydrolase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|pancreas(1)	8		Myeloproliferative disorder(586;0.0393)				CTGCATGGAGCCAGACCCTGA	0.552													A	36558763	C	A	36558763	3	1	364	1	0	0	0	0	1	0	0	0	333	739	26	4	890	4	ADPRHL2	1	36558763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	344654	36558763	212691858	380	23882											
COL8A2	1296	broad.mit.edu	37	chr1	36564678	36564678	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attatcccccttgaggcctcGatcacctgggggcccaggct	6	9	11	15	1	1	1	1	1	0	0	3	2	2	1	5	4	0	1	5	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36564678G>A	ENST00000397799.1	-	4	828	c.604C>T	c.(604-606)Cga>Tga	p.R202*	COL8A2_ENST00000303143.4_Nonsense_Mutation_p.R202*|COL8A2_ENST00000481785.1_Nonsense_Mutation_p.R137*			P25067	CO8A2_HUMAN	collagen, type VIII, alpha 2	202	Triple-helical region.				angiogenesis|cell-cell adhesion|extracellular matrix organization	basement membrane|collagen	extracellular matrix structural constituent|protein binding, bridging			NS(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TTGAGGCCTCGATCACCTGGG	0.726													A	36564678	G	A	36564678	4	1	364	1	0	0	0	0	0	1	0	0	3737	1066	37	1	1511	1	COL8A2	1	36564678	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5915	36564678	212685943	381	23883											
THRAP3	9967	broad.mit.edu	37	chr1	36752440	36752440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggagatgaggccaaggaGcagacattctctggaggcac	12	5	15	9	0	1	3	0	1	1	2	2	6	1	5	1	5	1	2	1	5	1	1	rs142896902		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752440G>A	ENST00000354618.5	+	4	833	c.609G>A	c.(607-609)gaG>gaA	p.E203E	THRAP3_ENST00000469141.2_Silent_p.E203E	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	203	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AGGCCAAGGAGCAGACATTCT	0.537			T	USP6	aneurysmal bone cysts								A	36752440	G	A	36752440	2	1	364	1	0	0	0	0	0	0	0	1	15974	962	34	2		2	THRAP3	1	36752440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187762	36752440	212498181	382	23884											
THRAP3	9967	broad.mit.edu	37	chr1	36752451	36752451	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaggagcagacattctCtggaggcacctctcaagata	12	7	11	11	0	2	2	1	0	2	2	4	4	2	4	2	4	1	2	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36752451C>A	ENST00000354618.5	+	4	844	c.620C>A	c.(619-621)tCt>tAt	p.S207Y	THRAP3_ENST00000469141.2_Missense_Mutation_p.S207Y	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	207	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				CAGACATTCTCTGGAGGCACC	0.547			T	USP6	aneurysmal bone cysts								A	36752451	C	A	36752451	3	1	364	1	0	0	0	0	1	0	0	0	15974	913	32	4	626	4	THRAP3	1	36752451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	36752451	212498170	383	23885											
THRAP3	9967	broad.mit.edu	37	chr1	36762305	36762305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcagtggattcccgagactCcagtcactcaagggaaaggt	12	8	11	10	1	3	1	3	0	0	1	5	4	5	3	2	3	0	0	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36762305C>T	ENST00000354618.5	+	9	2461	c.2237C>T	c.(2236-2238)tCc>tTc	p.S746F	THRAP3_ENST00000469141.2_Missense_Mutation_p.S746F	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	746					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCCCGAGACTCCAGTCACTCA	0.428			T	USP6	aneurysmal bone cysts								T	36762305	C	T	36762305	3	4	364	1	0	0	0	0	1	0	0	0	15974	855	30	2	2263	2	THRAP3	1	36762305	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9854	36762305	212488316	384	23886											
THRAP3	9967	broad.mit.edu	37	chr1	36769414	36769414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgatgaccgtgaaggCgaaggcagtgacaagtgggt	12	6	16	7	2	0	4	0	4	0	0	0	5	0	4	1	3	1	2	1	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36769414C>T	ENST00000354618.5	+	12	2888	c.2664C>T	c.(2662-2664)ggC>ggT	p.G888G	THRAP3_ENST00000469141.2_Silent_p.G888G	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	888					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				ACCGTGAAGGCGAAGGCAGTG	0.587			T	USP6	aneurysmal bone cysts								T	36769414	C	T	36769414	2	4	364	1	0	0	0	0	0	0	0	1	15974	755	27	1		1	THRAP3	1	36769414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7109	36769414	212481207	385	23887											
STK40	83931	broad.mit.edu	37	chr1	36814358	36814358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctctggtccttcagcaggtCcccctcgctcaccagatgct	5	11	8	17	1	3	1	2	0	1	1	7	1	5	1	4	2	2	3	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36814358C>T	ENST00000359297.2	-	6	689	c.682G>A	c.(682-684)Gac>Aac	p.D228N	STK40_ENST00000373129.3_Missense_Mutation_p.D228N|STK40_ENST00000373132.3_Missense_Mutation_p.D228N|STK40_ENST00000373130.3_Missense_Mutation_p.D233N			Q8N2I9	STK40_HUMAN	serine/threonine kinase 40	228	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)	13		Myeloproliferative disorder(586;0.0393)				TTCAGCAGGTCCCCCTCGCTC	0.557													T	36814358	C	T	36814358	3	4	364	1	0	0	0	0	1	0	0	0	15403	855	30	2	645	2	STK40	1	36814358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44944	36814358	212436263	386	23888											
CSF3R	1441	broad.mit.edu	37	chr1	36932899	36932899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgggacacttggccagaGgggattcttcctgctggaga	7	10	15	9	0	2	2	0	0	2	2	3	5	3	4	2	5	1	1	2	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:36932899G>T	ENST00000373103.1	-	16	2519	c.1972C>A	c.(1972-1974)Ctc>Atc	p.L658I	CSF3R_ENST00000373104.1_Missense_Mutation_p.L658I|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000338937.5_Silent_p.P626P|CSF3R_ENST00000418048.2_Missense_Mutation_p.L658I|CSF3R_ENST00000373106.1_Missense_Mutation_p.L658I|CSF3R_ENST00000361632.4_Missense_Mutation_p.L658I|CSF3R_ENST00000440588.2_Missense_Mutation_p.L658I|CSF3R_ENST00000331941.5_Missense_Mutation_p.L658I	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	658					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CTTGGCCAGAGGGGATTCTTC	0.587													T	36932899	G	T	36932899	3	4	364	1	0	0	0	0	1	0	0	0	3970	1000	35	4	736	4	CSF3R	1	36932899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118541	36932899	212317722	387	23889											
GRIK3	2899	broad.mit.edu	37	chr1	37271833	37271833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcgtagtcggccgtcaggGccctctggatgccctcctcg	3	8	14	16	5	2	0	1	0	1	0	5	1	3	1	4	3	1	1	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37271833G>A	ENST00000373091.3	-	14	2202	c.2186C>T	c.(2185-2187)gCc>gTc	p.A729V	GRIK3_ENST00000373093.4_Missense_Mutation_p.A729V	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	729					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GGCCGTCAGGGCCCTCTGGAT	0.597													A	37271833	G	A	37271833	3	1	364	1	0	0	0	0	1	0	0	0	6830	1203	42	2	585	2	GRIK3	1	37271833	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	338934	37271833	211978788	388	23890											
GRIK3	2899	broad.mit.edu	37	chr1	37315910	37315910	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaggggctgcaggctcttAccagcactgtggtgacaatg	8	9	14	10	0	1	1	0	1	1	0	1	1	1	1	1	4	4	5	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37315910A>G	ENST00000373091.3	-	9	1343		c.e9+1		GRIK3_ENST00000462621.1_Splice_Site|GRIK3_ENST00000373093.4_Splice_Site	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3						negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GCAGGCTCTTACCAGCACTGT	0.612													G	37315910	A	G	37315910	5	3	364	1	0	0	0	0	0	0	1	0	6830	405	14	3	1463	3	GRIK3	1	37315910	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44077	37315910	211934711	389	23891											
GRIK3	2899	broad.mit.edu	37	chr1	37356573	37356573	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcctctgtatgtcataGgtcaaggttgtgttgggcag	8	14	13	6	0	3	1	2	1	1	0	4	1	4	1	1	3	0	4	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37356573G>T	ENST00000373091.3	-	2	256	c.240C>A	c.(238-240)acC>acA	p.T80T	GRIK3_ENST00000373093.4_Silent_p.T80T	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	80					negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity			breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)			L-Glutamic Acid(DB00142)	GTATGTCATAGGTCAAGGTTG	0.547													T	37356573	G	T	37356573	2	4	364	1	0	0	0	0	0	0	0	1	6830	987	35	4		4	GRIK3	1	37356573	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40663	37356573	211894048	390	23892											
ZC3H12A	80149	broad.mit.edu	37	chr1	37941142	37941143	+	Frame_Shift_Ins	INS	-	-	A																															ctgtcctggaagccagccccINSaccatgagtctgtgggaatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:37941142_37941143insA	ENST00000373087.6	+	2	161_162	c.45_46insA	c.(46-48)accfs	p.T16fs		NM_025079.2	NP_079355.2	Q5D1E8	ZC12A_HUMAN	zinc finger CCCH-type containing 12A	16					angiogenesis|apoptosis|cell differentiation	cytoplasm|nucleus|plasma membrane	endonuclease activity|metal ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				AAGCCAGCCCCACCATGAGTCT	0.634													A	37941143	-	A	37941142	7	5	364	1	0	1	1	0	0	0	0	0	17662	581	21	0	47	0	ZC3H12A	1	37941142	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	584569	37941142	211309479	391	23893											
GNL2	29889	broad.mit.edu	37	chr1	38048423	38048423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgttaagtacaaaaaTgaggtgtttccaaggttttt	13	16	8	4	0	0	1	0	1	0	0	1	1	1	1	1	2	1	4	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38048423T>C	ENST00000373062.3	-	7	849	c.751A>G	c.(751-753)Att>Gtt	p.I251V		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	251					ribosome biogenesis	nucleolus	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				AGTACAAAAATGAGGTGTTTC	0.383													C	38048423	T	C	38048423	3	2	364	1	0	0	0	0	1	0	0	0	6592	1464	51	3	1484	3	GNL2	1	38048423	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107281	38048423	211202198	392	23894											
RSPO1	284654	broad.mit.edu	37	chr1	38082240	38082240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgcccacctggcggatgtCgttcctctccagcaggatga	7	8	12	14	3	1	1	0	1	1	0	4	4	2	3	4	3	1	2	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38082240C>T	ENST00000356545.2	-	5	989	c.202G>A	c.(202-204)Gac>Aac	p.D68N	RSPO1_ENST00000373059.1_Missense_Mutation_p.D41N|RSPO1_ENST00000401070.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401069.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401068.1_Missense_Mutation_p.D68N|RSPO1_ENST00000401071.2_Missense_Mutation_p.D68N	NM_001038633.3	NP_001033722.1	Q2MKA7	RSPO1_HUMAN	R-spondin 1	68					positive regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization		heparin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)	12		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TGGCGGATGTCGTTCCTCTCC	0.617													T	38082240	C	T	38082240	3	4	364	1	0	0	0	0	1	0	0	0	13800	884	31	1	605	1	RSPO1	1	38082240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33817	38082240	211168381	393	23895											
EPHA10	284656	broad.mit.edu	37	chr1	38184381	38184381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccatagccagcagccGcgaagctgtccttgtagcgg	7	7	13	14	3	0	0	0	0	0	0	2	1	2	0	4	2	5	4	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38184381G>A	ENST00000373048.4	-	16	2863	c.2864C>T	c.(2863-2865)gCg>gTg	p.A955V	EPHA10_ENST00000427468.2_Missense_Mutation_p.A955V|EPHA10_ENST00000330210.7_Missense_Mutation_p.A450V|EPHA10_ENST00000540011.1_3'UTR|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	955	SAM.					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GCCAGCAGCCGCGAAGCTGTC	0.672													A	38184381	G	A	38184381	3	1	364	1	0	0	0	0	1	0	0	0	5207	1087	38	1	170	1	EPHA10	1	38184381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102141	38184381	211066240	394	23896											
MANEAL	149175	broad.mit.edu	37	chr1	38265634	38265634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccacaatacgcgcaacaGggtcaatggcaagtactatg	15	6	9	11	2	1	0	1	0	0	0	1	0	1	0	1	2	4	3	1	2	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38265634G>T	ENST00000373045.6	+	4	1514	c.1133G>T	c.(1132-1134)aGg>aTg	p.R378M	MANEAL_ENST00000329006.5_Missense_Mutation_p.R156M|MANEAL_ENST00000525897.1_Missense_Mutation_p.R184M|RP11-109P14.9_ENST00000433474.1_RNA|MANEAL_ENST00000397631.3_3'UTR	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	378						Golgi membrane|integral to membrane	hydrolase activity			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				ACGCGCAACAGGGTCAATGGC	0.557													T	38265634	G	T	38265634	3	4	364	1	0	0	0	0	1	0	0	0	9297	1000	35	4	1147	4	MANEAL	1	38265634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81253	38265634	210984987	395	23897											
YRDC	79693	broad.mit.edu	37	chr1	38272585	38272585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcactagtgagagcaagcgGaccctcaaacatctgagcca	13	5	11	12	1	2	2	1	2	1	1	2	4	2	3	2	2	4	2	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38272585G>A	ENST00000373044.2	-	3	572	c.568C>T	c.(568-570)Ccg>Tcg	p.P190S		NM_024640.3	NP_078916.3	Q86U90	YRDC_HUMAN	yrdC N(6)-threonylcarbamoyltransferase domain containing	190	YrdC-like.				negative regulation of transport	membrane|mitochondrion				lung(2)|upper_aerodigestive_tract(1)	3	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGAGCAAGCGGACCCTCAAAC	0.512													A	38272585	G	A	38272585	3	1	364	1	0	0	0	0	1	0	0	0	17596	1174	41	2	283	2	YRDC	1	38272585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6951	38272585	210978036	396	23898											
INPP5B	3633	broad.mit.edu	37	chr1	38343867	38343867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccacctaccccgatgTcaaacactgagctgacaggc	11	6	9	15	1	1	2	1	2	0	0	1	3	1	2	4	1	5	2	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38343867T>C	ENST00000373023.2	-	16	2003	c.1910A>G	c.(1909-1911)gAc>gGc	p.D637G	INPP5B_ENST00000373026.1_Missense_Mutation_p.D637G|INPP5B_ENST00000373027.1_Missense_Mutation_p.D393G|INPP5B_ENST00000373024.3_Missense_Mutation_p.D557G|INPP5B_ENST00000458109.2_3'UTR	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	637					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TACCCCGATGTCAAACACTGA	0.493													C	38343867	T	C	38343867	3	2	364	1	0	0	0	0	1	0	0	0	7813	1667	58	3	1107	3	INPP5B	1	38343867	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	71282	38343867	210906754	397	23899											
INPP5B	3633	broad.mit.edu	37	chr1	38355275	38355275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctttctgtagtagatGtgatttcacaattgtatctc	8	19	6	8	0	5	2	1	1	4	1	6	2	5	2	0	0	0	3	0	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:38355275G>A	ENST00000373023.2	-	9	1084	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	INPP5B_ENST00000373026.1_Missense_Mutation_p.H331Y|INPP5B_ENST00000373027.1_Missense_Mutation_p.H87Y|INPP5B_ENST00000373024.3_Missense_Mutation_p.H251Y|INPP5B_ENST00000458109.2_Missense_Mutation_p.H14Y	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	331					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TGTAGTAGATGTGATTTCACA	0.413													A	38355275	G	A	38355275	3	1	364	1	0	0	0	0	1	0	0	0	7813	1377	48	2	2054	2	INPP5B	1	38355275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11408	38355275	210895346	398	23900											
RRAGC	64121	broad.mit.edu	37	chr1	39321445	39321445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctttgatgaatgtccctCtgtgtttctattttgtgatc	5	19	8	9	0	2	3	0	3	2	0	4	3	3	3	2	0	0	1	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39321445C>A	ENST00000373001.3	-	3	752	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_022157.2	NP_071440.1	Q9HB90	RRAGC_HUMAN	Ras-related GTP binding C	192					apoptosis|cell growth|cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|RNA splicing|small GTPase mediated signal transduction|transcription, DNA-dependent	lysosome|nucleus	GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)	10	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)				GAATGTCCCTCTGTGTTTCTA	0.383													A	39321445	C	A	39321445	3	1	364	1	0	0	0	0	1	0	0	0	13765	912	32	4	643	4	RRAGC	1	39321445	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	966170	39321445	209929176	399	23901											
GJA9	81025	broad.mit.edu	37	chr1	39340514	39340514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtagctctaagccaccgCggtttccaatcgcagttagc	9	10	9	13	3	1	0	0	0	1	0	3	0	2	0	3	1	3	5	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39340514C>T	ENST00000454994.2	-	2	1533	c.1257G>A	c.(1255-1257)ccG>ccA	p.P419P	RP5-864K19.4_ENST00000433671.2_RNA|RP5-864K19.4_ENST00000443161.1_RNA|GJA9_ENST00000360786.3_Silent_p.P419P|RP5-864K19.4_ENST00000456813.1_RNA|GJA9_ENST00000357771.3_Silent_p.P419P|MYCBP_ENST00000489803.1_5'UTR			P57773	CXA9_HUMAN	gap junction protein, alpha 9, 59kDa	419					cell communication	connexon complex|integral to membrane				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;8.23e-17)			TAAGCCACCGCGGTTTCCAAT	0.507													T	39340514	C	T	39340514	2	4	364	1	0	0	0	0	0	0	0	1	6462	755	27	1		1	GJA9	1	39340514	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19069	39340514	209910107	400	23902											
MACF1	23499	broad.mit.edu	37	chr1	39763312	39763312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcttcagtgatgcacgagaGctggagtcattcttgaggaa	10	12	12	7	1	4	3	2	2	2	1	4	6	4	5	0	2	2	2	0	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763312G>A	ENST00000564288.1	+	21	3153	c.2376G>A	c.(2374-2376)gaG>gaA	p.E792E	MACF1_ENST00000372915.3_Silent_p.E797E|MACF1_ENST00000361689.2_Silent_p.E797E|MACF1_ENST00000539005.1_Silent_p.E797E|MACF1_ENST00000545844.1_Silent_p.E797E|MACF1_ENST00000317713.7_Silent_p.E797E|MACF1_ENST00000567887.1_Silent_p.E829E			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	797					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATGCACGAGAGCTGGAGTCAT	0.418													A	39763312	G	A	39763312	2	1	364	1	0	0	0	0	0	0	0	1	9215	962	34	2		2	MACF1	1	39763312	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	422798	39763312	209487309	401	23903											
MACF1	23499	broad.mit.edu	37	chr1	39763358	39763358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagattccattaaacgaaaaTattcctgtgaccacaacacc	17	9	4	11	1	0	2	0	1	0	1	2	3	2	2	4	0	2	0	4	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39763358T>C	ENST00000564288.1	+	21	3199	c.2422T>C	c.(2422-2424)Tat>Cat	p.Y808H	MACF1_ENST00000372915.3_Missense_Mutation_p.Y813H|MACF1_ENST00000361689.2_Missense_Mutation_p.Y813H|MACF1_ENST00000539005.1_Missense_Mutation_p.Y813H|MACF1_ENST00000545844.1_Missense_Mutation_p.Y813H|MACF1_ENST00000317713.7_Missense_Mutation_p.Y813H|MACF1_ENST00000567887.1_Missense_Mutation_p.Y845H			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	813					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TAAACGAAAATATTCCTGTGA	0.473													C	39763358	T	C	39763358	3	2	364	1	0	0	0	0	1	0	0	0	9215	1406	49	3	2515	3	MACF1	1	39763358	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46	39763358	209487263	402	23904											
MACF1	23499	broad.mit.edu	37	chr1	39797948	39797948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctaccagcaaccacagaGattttgtcctggaagaaagc	13	10	8	10	0	1	2	0	0	1	2	2	4	2	3	3	1	4	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39797948G>T	ENST00000564288.1	+	37	6465	c.5688G>T	c.(5686-5688)gaG>gaT	p.E1896D	MACF1_ENST00000289893.4_Missense_Mutation_p.E336D|MACF1_ENST00000476350.1_Intron|MACF1_ENST00000372915.3_Missense_Mutation_p.E1901D|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Missense_Mutation_p.E1933D			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	1901					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CAACCACAGAGATTTTGTCCT	0.408													T	39797948	G	T	39797948	3	4	364	1	0	0	0	0	1	0	0	0	9215	933	33	4	5779	4	MACF1	1	39797948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34590	39797948	209452673	403	23905											
MACF1	23499	broad.mit.edu	37	chr1	39835840	39835840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgctaaagagttagaaaaGcagattgaacacctgaaggt	17	8	11	5	0	0	5	0	2	0	3	0	5	0	5	1	1	3	3	1	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39835840G>A	ENST00000564288.1	+	51	13854	c.13077G>A	c.(13075-13077)aaG>aaA	p.K4359K	MACF1_ENST00000289893.4_Silent_p.K2799K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000372915.3_Silent_p.K4364K|MACF1_ENST00000361689.2_Silent_p.K2297K|MACF1_ENST00000539005.1_Silent_p.K2297K|MACF1_ENST00000545844.1_Silent_p.K2297K|MACF1_ENST00000317713.7_Silent_p.K2297K|MACF1_ENST00000567887.1_Silent_p.K4396K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4364					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGTTAGAAAAGCAGATTGAAC	0.453													A	39835840	G	A	39835840	2	1	364	1	0	0	0	0	0	0	0	1	9215	962	34	2		2	MACF1	1	39835840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37892	39835840	209414781	404	23906											
MACF1	23499	broad.mit.edu	37	chr1	39851175	39851175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggcagctcagggcatcCtaacaggccctggagatgtc	10	7	13	11	0	1	2	1	1	0	1	3	3	2	2	2	4	2	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39851175C>A	ENST00000564288.1	+	57	14695	c.13918C>A	c.(13918-13920)Cta>Ata	p.L4640I	MACF1_ENST00000289893.4_Missense_Mutation_p.L3080I|MACF1_ENST00000372915.3_Missense_Mutation_p.L4645I|MACF1_ENST00000361689.2_Missense_Mutation_p.L2578I|MACF1_ENST00000539005.1_Missense_Mutation_p.L2557I|MACF1_ENST00000545844.1_Missense_Mutation_p.L2578I|MACF1_ENST00000317713.7_Missense_Mutation_p.L2578I|MACF1_ENST00000567887.1_Missense_Mutation_p.L4677I			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4645					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGGCATCCTAACAGGCCC	0.458													A	39851175	C	A	39851175	3	1	364	1	0	0	0	0	1	0	0	0	9215	680	24	4	14089	4	MACF1	1	39851175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15335	39851175	209399446	405	23907											
KIAA0754	643314	broad.mit.edu	37	chr1	39877589	39877589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctcaggtgcctaatgCtgtggaacttattgcccacg	7	14	9	11	1	2	0	1	0	2	0	3	1	2	1	2	2	4	1	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39877589C>A	ENST00000530275.1	+	1	1439	c.1244C>A	c.(1243-1245)gCt>gAt	p.A415D	MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	415										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GTGCCTAATGCTGTGGAACTT	0.408													A	39877589	C	A	39877589	3	1	364	1	0	0	0	0	1	0	0	0	8250	797	28	4	1654	4	KIAA0754	1	39877589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26414	39877589	209373032	406	23908											
MACF1	23499	broad.mit.edu	37	chr1	39893657	39893657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaagacatagaaaacCatgcaacagatgtgcaccag	18	5	10	8	0	0	4	0	0	0	4	0	5	0	5	2	1	4	2	2	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39893657C>A	ENST00000564288.1	+	63	17278	c.16501C>A	c.(16501-16503)Cat>Aat	p.H5501N	MACF1_ENST00000289893.4_Missense_Mutation_p.H3941N|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Missense_Mutation_p.H3439N|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Missense_Mutation_p.H3439N|MACF1_ENST00000317713.7_Missense_Mutation_p.H3439N|MACF1_ENST00000567887.1_Missense_Mutation_p.H5538N			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5506					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CATAGAAAACCATGCAACAGA	0.398													A	39893657	C	A	39893657	3	1	364	1	0	0	0	0	1	0	0	0	9215	594	21	4	16696	4	MACF1	1	39893657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16068	39893657	209356964	407	23909											
MACF1	23499	broad.mit.edu	37	chr1	39895603	39895603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaactttagagcaagccCggcagctggccaccaagttc	11	7	10	13	1	1	2	1	0	0	2	2	2	1	2	3	2	4	4	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:39895603C>T	ENST00000564288.1	+	65	17770	c.16993C>T	c.(16993-16995)Cgg>Tgg	p.R5665W	MACF1_ENST00000289893.4_Missense_Mutation_p.R4105W|MACF1_ENST00000372915.3_Missense_Mutation_p.R5561W|MACF1_ENST00000361689.2_Missense_Mutation_p.R3603W|MACF1_ENST00000539005.1_Missense_Mutation_p.R3473W|MACF1_ENST00000545844.1_Missense_Mutation_p.R3603W|MACF1_ENST00000317713.7_Missense_Mutation_p.R3603W|MACF1_ENST00000567887.1_Missense_Mutation_p.R5702W			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5670					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGCAAGCCCGGCAGCTGGC	0.532													T	39895603	C	T	39895603	3	4	364	1	0	0	0	0	1	0	0	0	9215	643	23	1	17196	1	MACF1	1	39895603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1946	39895603	209355018	408	23910											
PABPC4	8761	broad.mit.edu	37	chr1	40035600	40035600	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccaaagtttttgatataaAcattggtgaattccttggct	11	15	7	8	0	0	2	0	2	0	0	1	2	1	2	3	2	1	2	3	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40035600A>G	ENST00000372857.3	-	4	1370	c.578T>C	c.(577-579)gTt>gCt	p.V193A	PABPC4_ENST00000372858.3_Missense_Mutation_p.V193A|RP11-69E11.8_ENST00000415255.1_RNA|PABPC4_ENST00000529216.1_5'UTR|PABPC4_ENST00000372862.3_Missense_Mutation_p.V193A|PABPC4_ENST00000372856.3_Missense_Mutation_p.V193A	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	193	RRM 3.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGATATAAACATTGGTGAA	0.428													G	40035600	A	G	40035600	3	3	364	1	0	0	0	0	1	0	0	0	11442	43	2	3	1452	3	PABPC4	1	40035600	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	139997	40035600	209215021	409	23911											
TRIT1	54802	broad.mit.edu	37	chr1	40309783	40309783	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactctacctgcccattcGcgatccccaatgatgattcg	9	11	6	15	3	1	2	0	2	1	0	4	3	2	2	4	0	3	0	4	0	3	4	rs142932194		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40309783G>A	ENST00000316891.5	-	10	1238	c.1224C>T	c.(1222-1224)cgC>cgT	p.R408R	TRIT1_ENST00000491865.1_5'UTR|TRIT1_ENST00000441669.2_Silent_p.R326R|TRIT1_ENST00000541099.1_Silent_p.R26R|TRIT1_ENST00000537223.1_Silent_p.R104R|TRIT1_ENST00000537440.1_Silent_p.R104R|TRIT1_ENST00000545233.1_Silent_p.R162R|TRIT1_ENST00000372818.1_Silent_p.R382R	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	408					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CTGCCCATTCGCGATCCCCAA	0.453													A	40309783	G	A	40309783	2	1	364	1	0	0	0	0	0	0	0	1	16661	1074	38	1		1	TRIT1	1	40309783	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	274183	40309783	208940838	410	23912											
MFSD2A	84879	broad.mit.edu	37	chr1	40422876	40422876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttccttcagatctacCtattggatgtggctcaggtg	6	16	10	9	0	4	1	2	0	2	1	5	2	5	2	2	3	1	2	2	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40422876C>A	ENST00000372809.5	+	2	354	c.211C>A	c.(211-213)Cta>Ata	p.L71I	MFSD2A_ENST00000420632.2_Intron|MFSD2A_ENST00000372811.5_Missense_Mutation_p.L71I	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	71					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCAGATCTACCTATTGGATGT	0.537													A	40422876	C	A	40422876	3	1	364	1	0	0	0	0	1	0	0	0	9605	680	24	4	217	4	MFSD2A	1	40422876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113093	40422876	208827745	411	23913											
MFSD2A	84879	broad.mit.edu	37	chr1	40432323	40432323	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtctgtatctatataatCtgtgctgtcatcctgatcct	8	18	6	9	0	4	1	1	1	3	0	6	1	6	1	2	0	1	2	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40432323C>A	ENST00000372809.5	+	7	947	c.804C>A	c.(802-804)atC>atA	p.I268I	MFSD2A_ENST00000420632.2_Silent_p.I99I|MFSD2A_ENST00000372811.5_Silent_p.I255I|MFSD2A_ENST00000480630.1_3'UTR	NM_001136493.1	NP_001129965.1	Q8NA29	MFS2A_HUMAN	major facilitator superfamily domain containing 2A	268					transmembrane transport	endoplasmic reticulum membrane|integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTATATAATCTGTGCTGTCA	0.542													A	40432323	C	A	40432323	2	1	364	1	0	0	0	0	0	0	0	1	9605	903	32	4		4	MFSD2A	1	40432323	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9447	40432323	208818298	412	23914											
COL9A2	1298	broad.mit.edu	37	chr1	40777351	40777351	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggtttcccagggggtcCtgggggccccgatggtccat	5	9	15	12	1	0	0	0	0	0	0	3	1	3	0	5	6	1	1	5	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40777351C>A	ENST00000372748.3	-	9	550	c.454G>T	c.(454-456)Gga>Tga	p.G152*		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	152	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CCAGGGGGTCCTGGGGGCCCC	0.607													A	40777351	C	A	40777351	4	1	364	1	0	0	0	0	0	1	0	0	3739	690	24	4	1711	4	COL9A2	1	40777351	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345028	40777351	208473270	413	23915											
SMAP2	64744	broad.mit.edu	37	chr1	40874359	40874359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaatggaaaggcaaaccGactttatgaagcctatcttc	14	9	10	8	1	1	1	0	1	1	0	2	4	1	3	2	3	2	1	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40874359G>A	ENST00000539317.1	+	3	225	c.32G>A	c.(31-33)cGa>cAa	p.R11Q		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	91					regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding			central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			AAGGCAAACCGACTTTATGAA	0.438													A	40874359	G	A	40874359	3	1	364	1	0	0	0	0	1	0	0	0	14861	1058	37	1	282	1	SMAP2	1	40874359	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97008	40874359	208376262	414	23916											
SMAP2	64744	broad.mit.edu	37	chr1	40881994	40881994	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtatggatcccagacGcctcaaatgcctactcaagg	11	9	8	13	1	3	1	3	0	0	1	4	2	4	2	3	2	2	1	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:40881994G>A	ENST00000539317.1	+	8	781	c.588G>A	c.(586-588)acG>acA	p.T196T		NM_001198980.1	NP_001185909.1	Q8WU79	SMAP2_HUMAN	small ArfGAP2	276	Interaction with clathrin heavy chains (By similarity).				regulation of ARF GTPase activity	cytoplasm|nucleus	ARF GTPase activator activity|zinc ion binding	p.T276T(1)		central_nervous_system(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24	Lung NSC(20;1.56e-05)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.04e-17)			GATCCCAGACGCCTCAAATGC	0.458													A	40881994	G	A	40881994	2	1	364	1	0	0	0	0	0	0	0	1	14861	1074	38	1		1	SMAP2	1	40881994	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7635	40881994	208368627	415	23917											
KCNQ4	9132	broad.mit.edu	37	chr1	41288056	41288056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtactactatgacaGtatcctcccatccttcaggt	9	12	6	14	0	1	1	1	1	0	0	4	1	4	1	4	2	2	2	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41288056G>T	ENST00000347132.5	+	8	1194	c.1112G>T	c.(1111-1113)aGt>aTt	p.S371I	KCNQ4_ENST00000509682.2_Missense_Mutation_p.S371I|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	371					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TACTATGACAGTATCCTCCCA	0.627													T	41288056	G	T	41288056	3	4	364	1	0	0	0	0	1	0	0	0	8143	1029	36	4	1142	4	KCNQ4	1	41288056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	406062	41288056	207962565	416	23918											
KCNQ4	9132	broad.mit.edu	37	chr1	41303411	41303411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacaaggggccctccgacgCggaggtggtggatgaaatca	10	5	16	10	4	1	1	1	1	0	0	2	5	2	3	2	6	0	0	2	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41303411C>T	ENST00000347132.5	+	13	1902	c.1820C>T	c.(1819-1821)gCg>gTg	p.A607V	KCNQ4_ENST00000509682.2_Missense_Mutation_p.A553V|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	607	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex		p.A607V(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			CCCTCCGACGCGGAGGTGGTG	0.627													T	41303411	C	T	41303411	3	4	364	1	0	0	0	0	1	0	0	0	8143	768	27	1	1870	1	KCNQ4	1	41303411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15355	41303411	207947210	417	23919											
SCMH1	22955	broad.mit.edu	37	chr1	41512229	41512229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtaggtgatgctgttgaCtgctgggaggttgagggtat	7	12	18	4	1	0	3	0	3	0	0	0	5	0	4	0	4	2	6	0	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41512229C>T	ENST00000402904.2	-	12	1686	c.1318G>A	c.(1318-1320)Gtc>Atc	p.V440I	SCMH1_ENST00000397171.2_Missense_Mutation_p.V379I|SCMH1_ENST00000372597.1_Missense_Mutation_p.V393I|SCMH1_ENST00000372596.1_Missense_Mutation_p.V379I|SCMH1_ENST00000456518.2_Missense_Mutation_p.V282I|SCMH1_ENST00000361705.3_Missense_Mutation_p.V393I|SCMH1_ENST00000372595.1_Missense_Mutation_p.V379I|SCMH1_ENST00000326197.7_Missense_Mutation_p.V440I|SCMH1_ENST00000397174.2_Missense_Mutation_p.V420I|SCMH1_ENST00000337495.5_Missense_Mutation_p.V450I|SCMH1_ENST00000361191.5_Missense_Mutation_p.V379I	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	440					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				ATGCTGTTGACTGCTGGGAGG	0.542													T	41512229	C	T	41512229	3	4	364	1	0	0	0	0	1	0	0	0	14001	565	20	2	684	2	SCMH1	1	41512229	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208818	41512229	207738392	418	23920											
SCMH1	22955	broad.mit.edu	37	chr1	41579057	41579057	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagtcaaaggcccctcGccacccatcaaaagtgacaa	14	5	7	15	1	2	1	2	1	0	0	3	1	2	1	5	1	0	1	5	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41579057G>A	ENST00000402904.2	-	8	981	c.613C>T	c.(613-615)Cga>Tga	p.R205*	SCMH1_ENST00000372596.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000372597.1_Nonsense_Mutation_p.R158*|SCMH1_ENST00000456518.2_Intron|SCMH1_ENST00000397171.2_Nonsense_Mutation_p.R144*|SCMH1_ENST00000397174.2_Nonsense_Mutation_p.R185*|SCMH1_ENST00000326197.7_Nonsense_Mutation_p.R205*|SCMH1_ENST00000372595.1_Nonsense_Mutation_p.R144*|SCMH1_ENST00000361705.3_Nonsense_Mutation_p.R158*|SCMH1_ENST00000337495.5_Nonsense_Mutation_p.R215*|SCMH1_ENST00000361191.5_Nonsense_Mutation_p.R144*	NM_001031694.2	NP_001026864.1	Q96GD3	SCMH1_HUMAN	sex comb on midleg homolog 1 (Drosophila)	205					anatomical structure morphogenesis|gene silencing|multicellular organismal development|negative regulation of transcription, DNA-dependent		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(2)|pancreas(2)|upper_aerodigestive_tract(1)	15	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)|Breast(333;0.162)	Myeloproliferative disorder(586;0.0393)				AAGGCCCCTCGCCACCCATCA	0.567													A	41579057	G	A	41579057	4	1	364	1	0	0	0	0	0	1	0	0	14001	1095	38	1	1405	1	SCMH1	1	41579057	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66828	41579057	207671564	419	23921											
HIVEP3	59269	broad.mit.edu	37	chr1	41976860	41976860	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgtggccgtggaagtcatgGagggcggagaagggtcggga	9	6	21	5	3	1	1	1	0	0	1	2	5	1	4	1	7	0	0	1	7	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:41976860G>T	ENST00000372584.1	-	8	7494	c.6480C>A	c.(6478-6480)ctC>ctA	p.L2160L	HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000429157.2_Silent_p.L2160L|HIVEP3_ENST00000247584.5_Silent_p.L2161L|HIVEP3_ENST00000372583.1_Silent_p.L2161L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2161					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)				GGAAGTCATGGAGGGCGGAGA	0.622													T	41976860	G	T	41976860	2	4	364	1	0	0	0	0	0	0	0	1	7243	1161	41	4		4	HIVEP3	1	41976860	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	397803	41976860	207273761	420	23922											
HIVEP3	59269	broad.mit.edu	37	chr1	42045648	42045648	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttaatgtagtttaaataGcaccaactgacattagtggt	13	13	9	6	0	0	1	0	1	0	0	0	1	0	1	1	2	2	4	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42045648G>T	ENST00000372584.1	-	3	5835	c.4821C>A	c.(4819-4821)tgC>tgA	p.C1607*	HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.C1607*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.C1607*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1607					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)				AGTTTAAATAGCACCAACTGA	0.483													T	42045648	G	T	42045648	4	4	364	1	0	0	0	0	0	1	0	0	7243	963	34	4	2423	4	HIVEP3	1	42045648	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68788	42045648	207204973	421	23923											
HIVEP3	59269	broad.mit.edu	37	chr1	42047197	42047197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaccatgtgaggtggccGcagaggaaatctgggacaat	11	7	14	9	1	1	2	0	1	1	1	2	4	2	4	3	4	0	1	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42047197G>A	ENST00000372584.1	-	3	4286	c.3272C>T	c.(3271-3273)gCg>gTg	p.A1091V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.A1091V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.A1091V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.A1091V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1091					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)				TGAGGTGGCCGCAGAGGAAAT	0.607													A	42047197	G	A	42047197	3	1	364	1	0	0	0	0	1	0	0	0	7243	1087	38	1	3972	1	HIVEP3	1	42047197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1549	42047197	207203424	422	23924											
HIVEP3	59269	broad.mit.edu	37	chr1	42049277	42049277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctgctgctctgcactctCggagcgagagaaatacccag	10	7	11	13	2	2	1	0	0	2	1	3	5	2	2	2	1	5	3	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42049277C>T	ENST00000372584.1	-	3	2206	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	HIVEP3_ENST00000429157.2_Missense_Mutation_p.E398K|HIVEP3_ENST00000247584.5_Missense_Mutation_p.E398K|HIVEP3_ENST00000372583.1_Missense_Mutation_p.E398K	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	398	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).|Ser-rich.				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)				TCTGCACTCTCGGAGCGAGAG	0.577													T	42049277	C	T	42049277	3	4	364	1	0	0	0	0	1	0	0	0	7243	893	31	1	6052	1	HIVEP3	1	42049277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2080	42049277	207201344	423	23925											
RIMKLA	284716	broad.mit.edu	37	chr1	42875795	42875795	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggtggtggtagggggcCaggtcataggctctatgctt	5	11	19	6	0	2	0	1	0	1	0	2	0	2	0	1	8	1	3	1	8	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:42875795C>T	ENST00000431473.3	+	4	751	c.622C>T	c.(622-624)Cag>Tag	p.Q208*		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	208	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GGTAGGGGGCCAGGTCATAGG	0.527													T	42875795	C	T	42875795	4	4	364	1	0	0	0	0	0	1	0	0	13456	595	21	2	636	2	RIMKLA	1	42875795	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	826518	42875795	206374826	424	23926											
CCDC30	728621	broad.mit.edu	37	chr1	43076716	43076716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagagaaggaagctctacGtgaagaatatttgcgattat	15	10	11	5	2	1	3	0	1	1	2	1	6	1	4	0	1	3	2	0	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43076716G>A	ENST00000428554.2	+	17	2594	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	CCDC30_ENST00000390640.4_Missense_Mutation_p.R273H|CCDC30_ENST00000342022.4_Missense_Mutation_p.R484H|CCDC30_ENST00000507855.1_Missense_Mutation_p.R273H|CCDC30_ENST00000340612.4_Missense_Mutation_p.R484H			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	484										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						GAAGCTCTACGTGAAGAATAT	0.358													A	43076716	G	A	43076716	3	1	364	1	0	0	0	0	1	0	0	0	2832	1145	40	1	1485	1	CCDC30	1	43076716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200921	43076716	206173905	425	23927											
CLDN19	149461	broad.mit.edu	37	chr1	43204139	43204139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgatggcaacacggcccttgGcaatggggttgctgtctccc	6	9	13	13	2	1	0	0	0	1	0	2	1	1	0	2	5	2	4	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43204139G>A	ENST00000539749.1	-	2	531	c.341C>T	c.(340-342)gCc>gTc	p.A114V	CLDN19_ENST00000296387.1_Missense_Mutation_p.A114V|CLDN19_ENST00000372539.3_Missense_Mutation_p.A114V	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	114					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACGGCCCTTGGCAATGGGGTT	0.652													A	43204139	G	A	43204139	3	1	364	1	0	0	0	0	1	0	0	0	3511	1203	42	2	465	2	CLDN19	1	43204139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127423	43204139	206046482	426	23928											
LEPRE1	64175	broad.mit.edu	37	chr1	43220608	43220608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacaagggtctcgatttccTtcataaggttcccaatctcc	9	12	6	14	1	3	0	1	0	2	0	7	1	5	0	4	2	0	1	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43220608T>C	ENST00000236040.4	-	8	1317	c.1277A>G	c.(1276-1278)aAg>aGg	p.K426R	LEPRE1_ENST00000397054.3_Missense_Mutation_p.K426R|LEPRE1_ENST00000296388.5_Missense_Mutation_p.K426R	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	426					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CTCGATTTCCTTCATAAGGTT	0.557													C	43220608	T	C	43220608	3	2	364	1	0	0	0	0	1	0	0	0	8788	1609	56	3	984	3	LEPRE1	1	43220608	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16469	43220608	206030013	427	23929											
LEPRE1	64175	broad.mit.edu	37	chr1	43224620	43224620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaagctccgtgacacaGttctgcttacagttgaggac	11	9	11	10	1	1	2	0	2	1	0	2	4	2	3	1	1	4	5	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224620G>T	ENST00000236040.4	-	4	883	c.843C>A	c.(841-843)aaC>aaA	p.N281K	LEPRE1_ENST00000397054.3_Missense_Mutation_p.N281K|LEPRE1_ENST00000296388.5_Missense_Mutation_p.N281K	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	281					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	CCGTGACACAGTTCTGCTTAC	0.418													T	43224620	G	T	43224620	3	4	364	1	0	0	0	0	1	0	0	0	8788	1020	36	4	1434	4	LEPRE1	1	43224620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4012	43224620	206026001	428	23930											
LEPRE1	64175	broad.mit.edu	37	chr1	43224949	43224949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catagggcccttcgcagaggGcacggcactcctcataggcc	8	6	12	15	2	1	1	1	0	0	1	3	1	2	1	3	4	0	3	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43224949G>T	ENST00000236040.4	-	3	771	c.731C>A	c.(730-732)gCc>gAc	p.A244D	LEPRE1_ENST00000397054.3_Missense_Mutation_p.A244D|LEPRE1_ENST00000296388.5_Missense_Mutation_p.A244D	NM_001243246.1	NP_001230175.1	Q32P28	P3H1_HUMAN	leucine proline-enriched proteoglycan (leprecan) 1	244					negative regulation of cell proliferation	endoplasmic reticulum|proteinaceous extracellular matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity			large_intestine(2)|lung(15)|ovary(5)|prostate(1)|urinary_tract(3)	26	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)			L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	TTCGCAGAGGGCACGGCACTC	0.577													T	43224949	G	T	43224949	3	4	364	1	0	0	0	0	1	0	0	0	8788	1203	42	4	1550	4	LEPRE1	1	43224949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329	43224949	206025672	429	23931											
SLC2A1	6513	broad.mit.edu	37	chr1	43396878	43396878	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaactcctcgatcacCtgcagggggagatgcagcct	9	9	12	11	1	1	2	1	0	0	2	3	4	2	2	3	2	4	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43396878C>A	ENST00000426263.3	-	3	293		c.e3-1		SLC2A1_ENST00000372500.3_Splice_Site|SLC2A1_ENST00000415851.2_Splice_Site	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1						carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CCTCGATCACCTGCAGGGGGA	0.622											OREG0013425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43396878	C	A	43396878	5	1	364	1	0	0	0	0	0	0	1	0	14632	695	24	4	1396	4	SLC2A1	1	43396878	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171929	43396878	205853743	430	23932											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43630358	43630358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaggcctctgccatgagCtgtcttggcccggaagctag	6	10	13	12	1	2	2	0	2	2	0	2	3	2	3	3	3	3	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43630358C>T	ENST00000431635.2	-	9	1139	c.991G>A	c.(991-993)Gct>Act	p.A331T	EBNA1BP2_ENST00000236051.2_Missense_Mutation_p.A276T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	276					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGCCATGAGCTGTCTTGGCC	0.537													T	43630358	C	T	43630358	3	4	364	1	0	0	0	0	1	0	0	0	4924	797	28	2	102	2	EBNA1BP2	1	43630358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233480	43630358	205620263	431	23933											
EBNA1BP2	10969	broad.mit.edu	37	chr1	43636428	43636428	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaacttctatttcttaccTtctgcatctgcagatcagat	11	15	5	10	0	5	2	1	0	4	2	5	3	5	2	1	0	4	2	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43636428T>G	ENST00000431635.2	-	5	759	c.611A>C	c.(610-612)aAg>aCg	p.K204T	EBNA1BP2_ENST00000236051.2_Splice_Site_p.K149T	NM_001159936.1	NP_001153408.1	Q99848	EBP2_HUMAN	EBNA1 binding protein 2	149					ribosome biogenesis	membrane fraction|nucleolus	protein binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)	16	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ATTTCTTACCTTCTGCATCTG	0.453													G	43636428	T	G	43636428	5	3	364	1	0	0	0	0	0	0	1	0	4924	1623	56	5	498	5	EBNA1BP2	1	43636428	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6070	43636428	205614193	432	23934											
WDR65	149465	broad.mit.edu	37	chr1	43675487	43675487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattctggacgcatgatgtTtgtgggcacctcggtgggaa	7	11	15	8	2	1	1	0	1	1	0	2	3	1	3	1	4	0	4	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43675487T>C	ENST00000372492.4	+	11	2153	c.1829T>C	c.(1828-1830)tTt>tCt	p.F610S	WDR65_ENST00000528956.1_Missense_Mutation_p.F610S	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	610										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCATGATGTTTGTGGGCACC	0.537													C	43675487	T	C	43675487	3	2	364	1	0	0	0	0	1	0	0	0	17418	1841	64	3	1867	3	WDR65	1	43675487	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39059	43675487	205575134	433	23935											
TMEM125	128218	broad.mit.edu	37	chr1	43738592	43738592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgctcaggtgaatggCggctagcaacgggcactgtg	8	6	16	11	3	1	1	1	1	0	0	1	1	1	1	1	4	3	5	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43738592C>T	ENST00000432792.2	+	4	769	c.199C>T	c.(199-201)Cgg>Tgg	p.R67W	TMEM125_ENST00000439858.1_Missense_Mutation_p.R67W			Q96AQ2	TM125_HUMAN	transmembrane protein 125	67						integral to membrane				breast(1)|large_intestine(1)|lung(1)	3	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGGTGAATGGCGGCTAGCAAC	0.652													T	43738592	C	T	43738592	3	4	364	1	0	0	0	0	1	0	0	0	16137	759	27	1	201	1	TMEM125	1	43738592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63105	43738592	205512029	434	23936											
C1orf210	149466	broad.mit.edu	37	chr1	43748742	43748742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctgggccaggggccacaGcagacgctgtggggagctcc	6	5	17	13	1	0	1	0	0	0	1	1	2	1	2	4	5	3	3	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43748742G>A	ENST00000523677.1	-	3	289	c.56C>T	c.(55-57)gCt>gTt	p.A19V	C1orf210_ENST00000423420.1_Missense_Mutation_p.A19V	NM_001164829.1|NM_182517.2	NP_001158301.1|NP_872323.1	Q8IVY1	CA210_HUMAN	chromosome 1 open reading frame 210	19						integral to membrane				breast(1)	1	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGGGGCCACAGCAGACGCTGT	0.637													A	43748742	G	A	43748742	3	1	364	1	0	0	0	0	1	0	0	0	2050	971	34	2	289	2	C1orf210	1	43748742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10150	43748742	205501879	435	23937											
TIE1	7075	broad.mit.edu	37	chr1	43770805	43770805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggggcgcggcgcacGcgcgtcatctacgtgcacaa	6	6	16	13	7	2	0	1	0	1	0	2	0	2	0	0	4	3	3	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770805G>A	ENST00000372476.3	+	2	421	c.342G>A	c.(340-342)acG>acA	p.T114T	TIE1_ENST00000538015.1_Silent_p.T114T|TIE1_ENST00000441333.2_Silent_p.T114T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	114					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGCGGCGCACGCGCGTCATCT	0.701													A	43770805	G	A	43770805	2	1	364	1	0	0	0	0	0	0	0	1	15993	1074	38	1		1	TIE1	1	43770805	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22063	43770805	205479816	436	23938											
TIE1	7075	broad.mit.edu	37	chr1	43770818	43770818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcacgcgcgtcatctacGtgcacaacagccctggaggt	8	6	13	14	5	2	0	1	0	1	0	2	1	2	1	1	3	4	2	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43770818G>A	ENST00000372476.3	+	2	434	c.355G>A	c.(355-357)Gtg>Atg	p.V119M	TIE1_ENST00000538015.1_Missense_Mutation_p.V119M|TIE1_ENST00000441333.2_Missense_Mutation_p.V119M	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	119					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTCATCTACGTGCACAACAG	0.697													A	43770818	G	A	43770818	3	1	364	1	0	0	0	0	1	0	0	0	15993	1145	40	1	361	1	TIE1	1	43770818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	43770818	205479803	437	23939											
TIE1	7075	broad.mit.edu	37	chr1	43777687	43777687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccccagtgagaacgtgacGttaatgaacctgaggccaaa	14	6	11	10	2	0	4	0	4	0	1	0	6	0	4	4	1	2	1	4	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43777687G>A	ENST00000372476.3	+	11	1594	c.1515G>A	c.(1513-1515)acG>acA	p.T505T	TIE1_ENST00000433781.2_Silent_p.T150T	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	505	Fibronectin type-III 1.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGAACGTGACGTTAATGAACC	0.602													A	43777687	G	A	43777687	2	1	364	1	0	0	0	0	0	0	0	1	15993	1132	40	1		1	TIE1	1	43777687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6869	43777687	205472934	438	23940											
TIE1	7075	broad.mit.edu	37	chr1	43784988	43784988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacttcggcctttctcGgggagaggaggtttatgtga	7	12	15	7	2	1	3	0	1	1	2	3	5	1	4	1	5	1	2	1	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43784988G>A	ENST00000372476.3	+	18	3084	c.3005G>A	c.(3004-3006)cGg>cAg	p.R1002Q	TIE1_ENST00000433781.2_Missense_Mutation_p.R647Q|TIE1_ENST00000473014.1_3'UTR	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	1002	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGCCTTTCTCGGGGAGAGGAG	0.572													A	43784988	G	A	43784988	3	1	364	1	0	0	0	0	1	0	0	0	15993	1116	39	1	3075	1	TIE1	1	43784988	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7301	43784988	205465633	439	23941											
MPL	4352	broad.mit.edu	37	chr1	43804212	43804212	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcttctatgccaacaGggagaagccccgtgcttgcc	8	8	11	14	1	2	1	0	0	2	1	2	3	2	2	5	2	5	1	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804212G>T	ENST00000372470.3	+	3	254		c.e3-1		MPL_ENST00000413998.2_Splice_Site	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene						cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TATGCCAACAGGGAGAAGCCC	0.587			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						T	43804212	G	T	43804212	5	4	364	1	0	0	0	0	0	0	1	0	9806	1014	35	4	222	4	MPL	1	43804212	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19224	43804212	205446409	440	23942											
MPL	4352	broad.mit.edu	37	chr1	43804304	43804304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccagaccaggaggaagtgCgtctcttctttccgctgcac	7	11	10	13	2	2	1	0	0	2	1	5	3	4	3	3	2	2	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43804304C>T	ENST00000372470.3	+	3	346	c.304C>T	c.(304-306)Cgt>Tgt	p.R102C	MPL_ENST00000413998.2_Missense_Mutation_p.R102C	NM_005373.2	NP_005364.1	P40238	TPOR_HUMAN	myeloproliferative leukemia virus oncogene	102					cell proliferation|platelet activation	integral to plasma membrane	cytokine receptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(551)|large_intestine(3)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	567	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAGGAAGTGCGTCTCTTCTT	0.562			Mis		MPD	MPD	congenital amegakaryocytic thrombocytopenia						T	43804304	C	T	43804304	3	4	364	1	0	0	0	0	1	0	0	0	9806	768	27	1	314	1	MPL	1	43804304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92	43804304	205446317	441	23943											
CDC20	991	broad.mit.edu	37	chr1	43824890	43824890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccctgcgggcgctcccatgGcacagttcgcgttcgagagt	5	8	13	15	5	0	1	0	0	0	1	3	2	1	1	3	2	1	4	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43824890G>A	ENST00000372462.1	+	1	207	c.4G>A	c.(4-6)Gca>Aca	p.A2T	CDC20_ENST00000310955.6_Missense_Mutation_p.A2T			Q12834	CDC20_HUMAN	cell division cycle 20	2					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CGCTCCCATGGCACAGTTCGC	0.652													A	43824890	G	A	43824890	3	1	364	1	0	0	0	0	1	0	0	0	3089	1203	42	2	6	2	CDC20	1	43824890	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20586	43824890	205425731	442	23944											
CDC20	991	broad.mit.edu	37	chr1	43825273	43825273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttcctcctgagcaaggaGaaccagcctgaaaacagcca	14	5	9	13	0	0	3	0	2	0	1	2	4	2	3	5	1	6	2	5	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43825273G>A	ENST00000372462.1	+	2	497	c.294G>A	c.(292-294)gaG>gaA	p.E98E	CDC20_ENST00000310955.6_Silent_p.E98E			Q12834	CDC20_HUMAN	cell division cycle 20	98					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TGAGCAAGGAGAACCAGCCTG	0.562													A	43825273	G	A	43825273	2	1	364	1	0	0	0	0	0	0	0	1	3089	933	33	2		2	CDC20	1	43825273	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	383	43825273	205425348	443	23945											
HYI	81888	broad.mit.edu	37	chr1	43917949	43917949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcagccttgactgctattCgatcagctccctggggtact	6	13	9	13	1	2	1	2	1	1	0	5	2	3	1	2	2	4	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:43917949C>T	ENST00000372425.4	-	3	548	c.353G>A	c.(352-354)cGa>cAa	p.R118Q	HYI_ENST00000372426.1_Missense_Mutation_p.R70Q|HYI_ENST00000486909.1_Missense_Mutation_p.R118Q|HYI_ENST00000583037.1_Missense_Mutation_p.R45Q|HYI_ENST00000372432.1_Missense_Mutation_p.R118Q|SZT2_ENST00000562955.1_3'UTR|HYI_ENST00000372434.1_Missense_Mutation_p.R143Q|SZT2_ENST00000372442.1_3'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	118							hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GACTGCTATTCGATCAGCTCC	0.572													T	43917949	C	T	43917949	3	4	364	1	0	0	0	0	1	0	0	0	7526	884	31	1	504	1	HYI	1	43917949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92676	43917949	205332672	444	23946											
PTPRF	5792	broad.mit.edu	37	chr1	44056724	44056724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctgggactctgggaactCggagcctgtaacctactatg	9	9	11	12	1	1	0	0	0	1	0	2	3	1	3	3	3	4	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44056724C>T	ENST00000359947.4	+	9	1371	c.1031C>T	c.(1030-1032)tCg>tTg	p.S344L	PTPRF_ENST00000438120.1_Missense_Mutation_p.S344L|PTPRF_ENST00000372414.3_Missense_Mutation_p.S344L|PTPRF_ENST00000372413.3_Missense_Mutation_p.S344L	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	344	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				TCTGGGAACTCGGAGCCTGTA	0.592													T	44056724	C	T	44056724	3	4	364	1	0	0	0	0	1	0	0	0	12889	893	31	1	1057	1	PTPRF	1	44056724	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138775	44056724	205193897	445	23947											
KDM4A	9682	broad.mit.edu	37	chr1	44121425	44121425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgagagttccgcaagatagCcaatagcgataagtgagtgg	13	8	13	7	3	0	3	0	1	0	2	2	5	1	3	2	1	2	2	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44121425C>A	ENST00000372396.3	+	3	436	c.302C>A	c.(301-303)gCc>gAc	p.A101D	KDM4A_ENST00000463151.1_3'UTR	NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	101					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						CGCAAGATAGCCAATAGCGAT	0.517													A	44121425	C	A	44121425	3	1	364	1	0	0	0	0	1	0	0	0	8186	739	26	4	308	4	KDM4A	1	44121425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64701	44121425	205129196	446	23948											
KDM4A	9682	broad.mit.edu	37	chr1	44149371	44149371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttgcagatgaatacaTgttttccctagaagagaata	14	11	9	7	0	0	4	0	1	0	3	1	5	1	4	2	1	2	3	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44149371T>C	ENST00000372396.3	+	12	1885	c.1751T>C	c.(1750-1752)aTg>aCg	p.M584T		NM_014663.2	NP_055478.2	O75164	KDM4A_HUMAN	lysine (K)-specific demethylase 4A	584					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleolus	histone demethylase activity (H3-K36 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(13)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	37						GATGAATACATGTTTTCCCTA	0.468													C	44149371	T	C	44149371	3	2	364	1	0	0	0	0	1	0	0	0	8186	1464	51	3	1793	3	KDM4A	1	44149371	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27946	44149371	205101250	447	23949											
ST3GAL3	6487	broad.mit.edu	37	chr1	44290430	44290430	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggactctctgcacggtggtTtttggccttgactgcatatt	6	15	11	9	1	1	1	0	1	1	0	2	2	1	2	1	4	2	3	1	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44290430T>G	ENST00000262915.3	+	5	459	c.282T>G	c.(280-282)gtT>gtG	p.V94V	ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372374.2_Intron|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000351035.3_Silent_p.V63V|ST3GAL3_ENST00000335430.6_Intron|ST3GAL3_ENST00000372366.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000361746.4_Silent_p.V94V|ST3GAL3_ENST00000372372.2_Silent_p.V63V|ST3GAL3_ENST00000332628.6_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372368.2_Silent_p.V79V|ST3GAL3_ENST00000361400.4_Intron|ST3GAL3_ENST00000372369.1_Intron|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000353126.3_Intron|ST3GAL3_ENST00000528371.1_Intron|ST3GAL3_ENST00000531993.1_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372367.1_Intron|ST3GAL3_ENST00000347631.2_Intron|ST3GAL3_ENST00000372365.1_Intron|ST3GAL3_ENST00000533933.1_Intron|ST3GAL3_ENST00000372375.2_Silent_p.V79V|ST3GAL3_ENST00000461375.1_Intron|ST3GAL3_ENST00000361392.4_Intron	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	76				L -> S (in Ref. 3; AAO38810).	protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				GCAcggtggtttttggccttg	0.458													G	44290430	T	G	44290430	2	3	364	1	0	0	0	0	0	0	0	1	15312	1828	64	5		5	ST3GAL3	1	44290430	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141059	44290430	204960191	448	23950											
IPO13	9670	broad.mit.edu	37	chr1	44415727	44415727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgcaggactgtgaggcGctcattcaggctgcctttgc	5	10	13	13	2	2	1	2	1	0	0	2	2	2	2	2	3	3	4	2	3	0	2	rs144725438	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44415727G>A	ENST00000372343.3	+	2	1385	c.723G>A	c.(721-723)gcG>gcA	p.A241A		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	241					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACTGTGAGGCGCTCATTCAGG	0.597													A	44415727	G	A	44415727	2	1	364	1	0	0	0	0	0	0	0	1	7852	1074	38	1		1	IPO13	1	44415727	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125297	44415727	204834894	449	23951											
IPO13	9670	broad.mit.edu	37	chr1	44422631	44422631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcctcagacgagaaggaGcagttccgaatttacaggtg	11	9	13	8	2	1	2	1	0	0	2	3	5	3	3	2	3	2	2	2	3	3	3	rs149546323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44422631G>A	ENST00000372343.3	+	5	1916	c.1254G>A	c.(1252-1254)gaG>gaA	p.E418E	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	418					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				ACGAGAAGGAGCAGTTCCGAA	0.512													A	44422631	G	A	44422631	2	1	364	1	0	0	0	0	0	0	0	1	7852	962	34	2		2	IPO13	1	44422631	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6904	44422631	204827990	450	23952											
IPO13	9670	broad.mit.edu	37	chr1	44423124	44423124	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgcagagaccattgaCgtcaactattctgatgtggt	10	12	9	10	2	2	3	1	2	1	1	4	4	3	3	2	1	1	1	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44423124C>T	ENST00000372343.3	+	7	2105	c.1443C>T	c.(1441-1443)gaC>gaT	p.D481D	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	481					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				AGACCATTGACGTCAACTATT	0.567													T	44423124	C	T	44423124	2	4	364	1	0	0	0	0	0	0	0	1	7852	535	19	1		1	IPO13	1	44423124	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	493	44423124	204827497	451	23953											
DPH2	1802	broad.mit.edu	37	chr1	44437630	44437630	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagccccccagctttctggTagcttcttccagcctatact	6	13	6	16	0	2	0	0	0	2	0	3	0	3	0	5	1	5	3	5	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44437630T>C	ENST00000255108.3	+	4	1228	c.1056T>C	c.(1054-1056)ggT>ggC	p.G352G	DPH2_ENST00000396758.2_Intron|DPH2_ENST00000412950.2_Silent_p.G217G	NM_001384.4	NP_001375.2	Q9BQC3	DPH2_HUMAN	DPH2 homolog (S. cerevisiae)	352					peptidyl-diphthamide biosynthetic process from peptidyl-histidine	cytoplasm				autonomic_ganglia(1)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(2)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)				AGCTTTCTGGTAGCTTCTTCC	0.607													C	44437630	T	C	44437630	2	2	364	1	0	0	0	0	0	0	0	1	4759	1625	57	3		3	DPH2	1	44437630	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14506	44437630	204812991	452	23954											
CCDC24	149473	broad.mit.edu	37	chr1	44458013	44458013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttgcgccaggagctcCggcagttgctccagggtctc	5	9	12	15	2	2	0	0	0	2	0	5	1	4	1	4	3	3	4	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44458013C>T	ENST00000372318.3	+	3	427	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC6A9_ENST00000372307.3_Intron|CCDC24_ENST00000479055.1_Intron|SLC6A9_ENST00000372306.3_Intron	NM_152499.1	NP_689712.1	Q8N4L8	CCD24_HUMAN	coiled-coil domain containing 24	86										endometrium(3)|large_intestine(2)|lung(3)|stomach(1)	9	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CCAGGAGCTCCGGCAGTTGCT	0.647													T	44458013	C	T	44458013	3	4	364	1	0	0	0	0	1	0	0	0	2826	643	23	1	262	1	CCDC24	1	44458013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20383	44458013	204792608	453	23955											
SLC6A9	6536	broad.mit.edu	37	chr1	44468188	44468188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttccctcacttcccaccttgGcctccaggatcttgtcccac	5	12	5	19	0	2	0	1	0	1	0	6	1	6	1	6	2	0	0	6	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44468188G>A	ENST00000372310.3	-	7	1019	c.854C>T	c.(853-855)gCc>gTc	p.A285V	SLC6A9_ENST00000372307.3_Missense_Mutation_p.A220V|SLC6A9_ENST00000372306.3_Missense_Mutation_p.A285V|SLC6A9_ENST00000475075.2_Missense_Mutation_p.A174V|SLC6A9_ENST00000537678.1_Missense_Mutation_p.A220V|SLC6A9_ENST00000357730.2_Missense_Mutation_p.A304V|SLC6A9_ENST00000360584.2_Missense_Mutation_p.A358V	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	358						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	TCCCACCTTGGCCTCCAGGAT	0.637													A	44468188	G	A	44468188	3	1	364	1	0	0	0	0	1	0	0	0	14785	1203	42	2	1079	2	SLC6A9	1	44468188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10175	44468188	204782433	454	23956											
SLC6A9	6536	broad.mit.edu	37	chr1	44476507	44476507	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttgccccagttgccccgTttgaggttctggtccctctt	2	15	11	13	1	2	1	0	1	2	0	3	1	3	1	5	3	2	4	5	3	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44476507T>C	ENST00000372310.3	-	3	243	c.78A>G	c.(76-78)aaA>aaG	p.K26K	SLC6A9_ENST00000372307.3_5'UTR|SLC6A9_ENST00000372306.3_Silent_p.K26K|SLC6A9_ENST00000475075.2_Intron|SLC6A9_ENST00000492434.2_5'UTR|SLC6A9_ENST00000537678.1_Intron|SLC6A9_ENST00000357730.2_Silent_p.K45K|SLC6A9_ENST00000360584.2_Silent_p.K99K	NM_001024845.2	NP_001020016.1	P48067	SC6A9_HUMAN	solute carrier family 6 (neurotransmitter transporter, glycine), member 9	99						integral to plasma membrane|membrane fraction	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			endometrium(3)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(2)	22	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0511)			Glycine(DB00145)	AGTTGCCCCGTTTGAGGTTCT	0.587													C	44476507	T	C	44476507	2	2	364	1	0	0	0	0	0	0	0	1	14785	1722	60	3		3	SLC6A9	1	44476507	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8319	44476507	204774114	455	23957											
ERI3	79033	broad.mit.edu	37	chr1	44687263	44687263	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtctgcttgaagatgaaGcctcgataggcgagtgtctt	9	12	13	7	2	2	3	0	2	2	1	3	6	2	3	1	1	2	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44687263G>T	ENST00000372257.2	-	9	1162	c.981C>A	c.(979-981)ggC>ggA	p.G327G	ERI3_ENST00000537474.1_Silent_p.G150G|ERI3_ENST00000372259.5_Silent_p.G212G	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	327						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TGAAGATGAAGCCTCGATAGG	0.527													T	44687263	G	T	44687263	2	4	364	1	0	0	0	0	0	0	0	1	5270	958	34	4		4	ERI3	1	44687263	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210756	44687263	204563358	456	23958											
ERI3	79033	broad.mit.edu	37	chr1	44774067	44774067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttcgccatccattcatCgaccctctgaaaagtacaca	11	11	4	15	2	2	1	1	1	1	0	6	2	4	1	4	0	1	1	4	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44774067C>T	ENST00000372257.2	-	6	854	c.673G>A	c.(673-675)Gat>Aat	p.D225N	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Missense_Mutation_p.D48N|ERI3_ENST00000372259.5_Missense_Mutation_p.D110N	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	225	Exonuclease.					intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ATCCATTCATCGACCCTCTGA	0.423													T	44774067	C	T	44774067	3	4	364	1	0	0	0	0	1	0	0	0	5270	884	31	1	356	1	ERI3	1	44774067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86804	44774067	204476554	457	23959											
ERI3	79033	broad.mit.edu	37	chr1	44804807	44804807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggaaggacaccattgcCgccatggatgcgccaaagcc	11	4	14	12	2	0	0	0	0	0	0	0	4	0	4	5	4	3	0	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:44804807C>T	ENST00000372257.2	-	3	580	c.399G>A	c.(397-399)gcG>gcA	p.A133A	ERI3_ENST00000495828.1_5'UTR|ERI3_ENST00000537474.1_Intron	NM_024066.1	NP_076971.1	O43414	ERI3_HUMAN	ERI1 exoribonuclease family member 3	133						intracellular	exonuclease activity|metal ion binding|nucleic acid binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						ACACCATTGCCGCCATGGATG	0.547													T	44804807	C	T	44804807	2	4	364	1	0	0	0	0	0	0	0	1	5270	639	23	1		1	ERI3	1	44804807	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30740	44804807	204445814	458	23960											
TMEM53	79639	broad.mit.edu	37	chr1	45120599	45120599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatggctgccagggcccGcagagcccctaccaggttgc	7	5	14	15	1	0	1	0	0	0	1	0	2	0	2	5	4	4	3	5	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45120599G>A	ENST00000372237.3	-	3	629	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	TMEM53_ENST00000372244.3_Intron|TMEM53_ENST00000372243.3_Intron|TMEM53_ENST00000372235.3_Missense_Mutation_p.R126W|TMEM53_ENST00000372242.3_Intron|TMEM53_ENST00000476724.1_5'UTR	NM_024587.2	NP_078863.2	Q6P2H8	TMM53_HUMAN	transmembrane protein 53	156						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(3)|ovary(2)|urinary_tract(1)	10	Acute lymphoblastic leukemia(166;0.155)					GCCAGGGCCCGCAGAGCCCCT	0.677													A	45120599	G	A	45120599	3	1	364	1	0	0	0	0	1	0	0	0	16279	1086	38	1	371	1	TMEM53	1	45120599	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315792	45120599	204130022	459	23961											
KIF2C	11004	broad.mit.edu	37	chr1	45227592	45227592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacccctcttttgcagattgCcacgatctcaccaggcataa	10	10	6	15	1	2	1	1	0	2	1	3	2	2	1	4	1	2	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45227592C>T	ENST00000372217.1	+	16	1877	c.1526C>T	c.(1525-1527)gCc>gTc	p.A509V	KIF2C_ENST00000372218.4_Missense_Mutation_p.A522V|RP11-269F19.2_ENST00000428791.1_RNA|RP11-269F19.2_ENST00000440985.1_RNA|KIF2C_ENST00000372222.3_Missense_Mutation_p.A450V|KIF2C_ENST00000372224.4_Missense_Mutation_p.A563V			Q99661	KIF2C_HUMAN	kinesin family member 2C	563	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TTGCAGATTGCCACGATCTCA	0.507													T	45227592	C	T	45227592	3	4	364	1	0	0	0	0	1	0	0	0	8357	739	26	2	1754	2	KIF2C	1	45227592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106993	45227592	204023029	460	23962											
PLK3	1263	broad.mit.edu	37	chr1	45270140	45270140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctgtgctcttcaacgAtggcacacatatggccctgt	7	12	11	11	1	2	0	1	0	1	0	2	1	2	0	1	3	2	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45270140A>G	ENST00000372201.4	+	12	1711	c.1472A>G	c.(1471-1473)gAt>gGt	p.D491G	PLK3_ENST00000465443.1_3'UTR	NM_004073.2	NP_004064.2	Q9H4B4	PLK3_HUMAN	polo-like kinase 3	491	POLO box 1.		D -> N (in dbSNP:rs17855444).			membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					CTCTTCAACGATGGCACACAT	0.557													G	45270140	A	G	45270140	3	3	364	1	0	0	0	0	1	0	0	0	12174	333	12	3	1518	3	PLK3	1	45270140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42548	45270140	203980481	461	23963											
HECTD3	79654	broad.mit.edu	37	chr1	45475919	45475919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctctgccggctgaggtcTcgatcccaggcgatgtgagt	5	10	14	12	3	2	2	0	2	2	0	4	4	3	2	3	3	2	1	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45475919T>C	ENST00000372172.4	-	3	648	c.577A>G	c.(577-579)Aga>Gga	p.R193G		NM_024602.5	NP_078878.3	Q5T447	HECD3_HUMAN	HECT domain containing E3 ubiquitin protein ligase 3	193					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|stomach(1)	28	Acute lymphoblastic leukemia(166;0.155)					GGCTGAGGTCTCGATCCCAGG	0.597													C	45475919	T	C	45475919	3	2	364	1	0	0	0	0	1	0	0	0	7096	1559	54	3	2084	3	HECTD3	1	45475919	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205779	45475919	203774702	462	23964											
ZSWIM5	57643	broad.mit.edu	37	chr1	45501950	45501950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtacatgctggtacacaGggggtctgctttcattcata	9	12	11	9	0	3	0	2	0	1	0	3	0	3	0	0	4	4	4	0	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45501950G>T	ENST00000359600.5	-	9	2121	c.1916C>A	c.(1915-1917)cCt>cAt	p.P639H		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	639							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					CTGGTACACAGGGGGTCTGCT	0.478													T	45501950	G	T	45501950	3	4	364	1	0	0	0	0	1	0	0	0	18341	1000	35	4	1665	4	ZSWIM5	1	45501950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26031	45501950	203748671	463	23965											
TOE1	114034	broad.mit.edu	37	chr1	45807687	45807687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcatggaggagtatgtcataGaaccaaagtctgtgcagttc	12	10	12	7	0	2	1	1	0	1	1	3	3	2	3	1	2	2	4	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45807687G>A	ENST00000372090.5	+	5	983	c.400G>A	c.(400-402)Gaa>Aaa	p.E134K	TOE1_ENST00000495703.1_3'UTR|TOE1_ENST00000539779.1_Missense_Mutation_p.E54K	NM_025077.3	NP_079353.3	Q96GM8	TOE1_HUMAN	target of EGR1, member 1 (nuclear)	134						nuclear speck|nucleolus	nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	11	Acute lymphoblastic leukemia(166;0.155)					GTATGTCATAGAACCAAAGTC	0.468													A	45807687	G	A	45807687	3	1	364	1	0	0	0	0	1	0	0	0	16449	943	33	2	418	2	TOE1	1	45807687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305737	45807687	203442934	464	23966											
PRDX1	5052	broad.mit.edu	37	chr1	45977087	45977087	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccagccagctgggcacaCtgcaagagaaaggcaccact	12	6	10	13	0	0	1	0	0	0	1	1	2	1	1	3	2	3	4	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45977087C>T	ENST00000262746.1	-	6	854		c.e6-1		PRDX1_ENST00000372079.1_Splice_Site|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					GCTGGGCACACTGCAAGAGAA	0.468													T	45977087	C	T	45977087	5	4	364	1	0	0	0	0	0	0	1	0	12550	579	20	2	89	2	PRDX1	1	45977087	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169400	45977087	203273534	465	23967											
PRDX1	5052	broad.mit.edu	37	chr1	45981480	45981480	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacacaacatattttcCtggggggaaaatcggagtca	15	8	11	7	1	1	1	1	0	0	1	3	4	2	3	1	4	2	0	1	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:45981480C>T	ENST00000262746.1	-	3	446		c.e3-1		PRDX1_ENST00000483583.1_Splice_Site|PRDX1_ENST00000372079.1_Intron|PRDX1_ENST00000319248.8_Splice_Site	NM_002574.3|NM_181696.2	NP_002565.1|NP_859047.1	Q06830	PRDX1_HUMAN	peroxiredoxin 1						cell proliferation|cell redox homeostasis|hydrogen peroxide catabolic process|skeletal system development	melanosome|mitochondrion|nucleus	protein binding|thioredoxin peroxidase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	12	Acute lymphoblastic leukemia(166;0.155)					ACATATTTTCCTGGGGGGAAA	0.403													T	45981480	C	T	45981480	5	4	364	1	0	0	0	0	0	0	1	0	12550	695	24	2	509	2	PRDX1	1	45981480	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4393	45981480	203269141	466	23968											
AKR1A1	10327	broad.mit.edu	37	chr1	46032281	46032281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttagcgtaggctaccGccacattgattgtgctgcta	7	12	10	12	2	0	1	0	1	0	0	0	1	0	1	3	1	5	4	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46032281G>A	ENST00000372070.3	+	4	872	c.125G>A	c.(124-126)cGc>cAc	p.R42H	AKR1A1_ENST00000351829.4_Missense_Mutation_p.R42H|AKR1A1_ENST00000471651.1_Missense_Mutation_p.R42H	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	42					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GTAGGCTACCGCCACATTGAT	0.517													A	46032281	G	A	46032281	3	1	364	1	0	0	0	0	1	0	0	0	465	1087	38	1	131	1	AKR1A1	1	46032281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50801	46032281	203218340	467	23969											
AKR1A1	10327	broad.mit.edu	37	chr1	46034284	46034284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgatcctgatgagcctgTcctgctggaggaaccagtag	8	9	14	10	1	0	3	0	3	0	0	2	5	2	5	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46034284T>C	ENST00000372070.3	+	7	1427	c.680T>C	c.(679-681)gTc>gCc	p.V227A	AKR1A1_ENST00000351829.4_Missense_Mutation_p.V227A|AKR1A1_ENST00000473038.1_Intron	NM_001202413.1|NM_001202414.1|NM_006066.3	NP_001189342.1|NP_001189343.1|NP_006057.1	P14550	AK1A1_HUMAN	aldo-keto reductase family 1, member A1 (aldehyde reductase)	227					glucose metabolic process		alditol:NADP+ 1-oxidoreductase activity|electron carrier activity|protein binding			lung(3)|prostate(1)|urinary_tract(1)	5	Acute lymphoblastic leukemia(166;0.155)					GATGAGCCTGTCCTGCTGGAG	0.557													C	46034284	T	C	46034284	3	2	364	1	0	0	0	0	1	0	0	0	465	1667	58	3	698	3	AKR1A1	1	46034284	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2003	46034284	203216337	468	23970											
GPBP1L1	60313	broad.mit.edu	37	chr1	46099286	46099286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtcagacgagaggagcTgatctcaattggaggggtgg	9	9	17	6	1	2	3	2	1	1	2	3	6	2	5	0	6	1	1	0	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099286T>C	ENST00000355105.3	-	10	2279	c.919A>G	c.(919-921)Agc>Ggc	p.S307G	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S307G	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CGAGAGGAGCTGATCTCAATT	0.517													C	46099286	T	C	46099286	3	2	364	1	0	0	0	0	1	0	0	0	6650	1580	55	3	521	3	GPBP1L1	1	46099286	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	65002	46099286	203151335	469	23971											
GPBP1L1	60313	broad.mit.edu	37	chr1	46099832	46099832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtaacagagattggaCtggtaaaagcagactcccgg	12	9	13	7	1	0	2	0	0	0	2	1	4	1	3	1	4	2	4	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46099832C>T	ENST00000355105.3	-	9	2181	c.821G>A	c.(820-822)aGt>aAt	p.S274N	GPBP1L1_ENST00000479235.1_5'UTR|GPBP1L1_ENST00000290795.3_Missense_Mutation_p.S274N	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					AGAGATTGGACTGGTAAAAGC	0.483													T	46099832	C	T	46099832	3	4	364	1	0	0	0	0	1	0	0	0	6650	565	20	2	623	2	GPBP1L1	1	46099832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	546	46099832	203150789	470	23972											
MAST2	23139	broad.mit.edu	37	chr1	46295224	46295224	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaccagtcccttggaCagtctgcaccttctcttact	9	12	7	13	0	2	1	0	1	2	1	4	3	3	2	3	1	3	1	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46295224C>T	ENST00000361297.2	+	3	722	c.439C>T	c.(439-441)Cag>Tag	p.Q147*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.Q147*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	147					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					GTCCCTTGGACAGTCTGCACC	0.458													T	46295224	C	T	46295224	4	4	364	1	0	0	0	0	0	1	0	0	9400	479	17	2	449	2	MAST2	1	46295224	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195392	46295224	202955397	471	23973											
RAD54L	8438	broad.mit.edu	37	chr1	46738396	46738396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtttctgagacaagccaaaCcggcagaagaattgcttgag	13	8	12	8	1	1	4	0	2	1	3	1	5	1	4	2	2	3	3	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46738396C>T	ENST00000371975.4	+	12	1971	c.1297C>T	c.(1297-1299)Ccg>Tcg	p.P433S	RAD54L_ENST00000442598.1_Missense_Mutation_p.P433S|RAD54L_ENST00000473251.1_3'UTR	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	433					meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		ACAAGCCAAACCGGCAGAAGA	0.493								Direct reversal of damage;Homologous recombination					T	46738396	C	T	46738396	3	4	364	1	0	0	0	0	1	0	0	0	13081	507	18	2	1343	2	RAD54L	1	46738396	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	443172	46738396	202512225	472	23974											
RAD54L	8438	broad.mit.edu	37	chr1	46740290	46740290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctaaccggctggtcatGtttgaccctgactggaaccc	7	9	13	12	1	1	2	1	2	0	0	1	3	1	3	3	5	2	3	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46740290G>A	ENST00000371975.4	+	16	2444	c.1770G>A	c.(1768-1770)atG>atA	p.M590I	RAD54L_ENST00000442598.1_Missense_Mutation_p.M590I	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	590	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		GGCTGGTCATGTTTGACCCTG	0.537								Direct reversal of damage;Homologous recombination					A	46740290	G	A	46740290	3	1	364	1	0	0	0	0	1	0	0	0	13081	1377	48	2	1832	2	RAD54L	1	46740290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1894	46740290	202510331	473	23975											
LRRC41	10489	broad.mit.edu	37	chr1	46745251	46745251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcagaaattgggctgggcGcttctcaaacagacggcaga	12	6	14	9	2	1	3	1	0	1	3	2	3	1	3	0	4	1	4	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46745251G>A	ENST00000343304.6	-	8	2341	c.2056C>T	c.(2056-2058)Cgc>Tgc	p.R686C	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	686										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					TGGGCTGGGCGCTTCTCAAAC	0.557													A	46745251	G	A	46745251	3	1	364	1	0	0	0	0	1	0	0	0	9069	1087	38	1	394	1	LRRC41	1	46745251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4961	46745251	202505370	474	23976											
LRRC41	10489	broad.mit.edu	37	chr1	46751289	46751289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaataaaaacgaagtcatAcaggtcttcagactctgcac	16	8	6	11	1	4	1	2	0	2	1	4	2	4	1	0	1	3	1	0	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751289A>G	ENST00000343304.6	-	4	1525	c.1240T>C	c.(1240-1242)Tat>Cat	p.Y414H	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	414										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ACGAAGTCATACAGGTCTTCA	0.562													G	46751289	A	G	46751289	3	3	364	1	0	0	0	0	1	0	0	0	9069	391	14	3	1226	3	LRRC41	1	46751289	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6038	46751289	202499332	475	23977											
LRRC41	10489	broad.mit.edu	37	chr1	46751494	46751495	+	Frame_Shift_Ins	INS	-	-	G																															gagcctcatgggaggtggctINSggggggtgcagctccctctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46751494_46751495insG	ENST00000343304.6	-	4	1319_1320	c.1034_1035insC	c.(1033-1035)ccafs	p.P345fs	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	345										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGAGGTGGCTGGGGGGTGCAG	0.619													G	46751495	-	G	46751494	7	5	364	1	0	1	1	0	0	0	0	0	9069	1567	55	0	1431	0	LRRC41	1	46751494	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	205	46751494	202499127	476	23978											
LRRC41	10489	broad.mit.edu	37	chr1	46764040	46764040	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtattgggcctgggaGggctacaaaaatcaaaacaa	16	8	11	6	0	1	1	1	1	0	0	1	2	1	2	1	3	2	2	1	3	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46764040G>T	ENST00000343304.6	-	2	487	c.202C>A	c.(202-204)Ctc>Atc	p.L68I	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	68										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGGCCTGGGAGGGCTACAAAA	0.423													T	46764040	G	T	46764040	3	4	364	1	0	0	0	0	1	0	0	0	9069	1000	35	4	2272	4	LRRC41	1	46764040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12546	46764040	202486581	477	23979											
UQCRH	7388	broad.mit.edu	37	chr1	46774775	46774775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgttttccttttgtaggaGgaagaggaagaggaggaatt	11	14	14	2	0	0	2	0	0	0	2	1	7	1	7	1	5	0	2	1	5	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46774775G>T	ENST00000311672.5	+	2	193	c.57G>T	c.(55-57)gaG>gaT	p.E19D	UQCRH_ENST00000486951.1_3'UTR	NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	19	Poly-Glu.				aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTTTGTAGGAGGAAGAGGAAG	0.358													T	46774775	G	T	46774775	3	4	364	1	0	0	0	0	1	0	0	0	17124	991	35	4	63	4	UQCRH	1	46774775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10735	46774775	202475846	478	23980											
FAAH	2166	broad.mit.edu	37	chr1	46871725	46871725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaagagtggcctgaaGggctgtgtctatggacagga	10	8	15	8	0	1	2	0	1	1	1	2	4	2	4	2	4	1	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:46871725G>T	ENST00000243167.8	+	6	885	c.801G>T	c.(799-801)aaG>aaT	p.K267N	FAAH_ENST00000493735.1_3'UTR	NM_001441.2	NP_001432.2	O00519	FAAH1_HUMAN	fatty acid amide hydrolase	267					fatty acid catabolic process	cytoplasm|cytoskeleton|endomembrane system|integral to membrane|organelle membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|fatty acid amide hydrolase activity			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	22	Acute lymphoblastic leukemia(166;0.155)				Propofol(DB00818)|Thiopental(DB00599)	GTGGCCTGAAGGGCTGTGTCT	0.612											OREG0013458	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46871725	G	T	46871725	3	4	364	1	0	0	0	0	1	0	0	0	5398	991	35	4	823	4	FAAH	1	46871725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96950	46871725	202378896	479	23981											
KNCN	148930	broad.mit.edu	37	chr1	47016788	47016788	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcagctgcagccttggAtacggagatgccgataatga	11	8	13	9	2	0	2	0	1	0	1	0	5	0	3	2	3	5	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47016788A>G	ENST00000481882.2	-	1	411	c.100T>C	c.(100-102)Tcc>Ccc	p.S34P	KNCN_ENST00000396314.3_Missense_Mutation_p.S34P|MKNK1-AS1_ENST00000602433.1_RNA			A6PVL3	KNCN_HUMAN	kinocilin	34						integral to membrane				central_nervous_system(1)|endometrium(1)|lung(1)|ovary(1)	4	Acute lymphoblastic leukemia(166;0.155)					GCAGCCTTGGATACGGAGATG	0.627													G	47016788	A	G	47016788	3	3	364	1	0	0	0	0	1	0	0	0	8483	333	12	3	217	3	KNCN	1	47016788	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	145063	47016788	202233833	480	23982											
MKNK1	8569	broad.mit.edu	37	chr1	47030791	47030791	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaagtcaaagtcacaGattttcactggagacacctg	12	9	8	12	0	3	2	3	0	0	2	3	3	3	2	2	1	1	0	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47030791G>T	ENST00000371946.4	-	10	853	c.690C>A	c.(688-690)atC>atA	p.I230I	MKNK1_ENST00000371945.4_Silent_p.I189I|MKNK1_ENST00000341183.5_Silent_p.I189I|MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000428112.2_Silent_p.I189I|MKNK1_ENST00000371944.4_Silent_p.I94I	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	230	Protein kinase.				intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CAAAGTCACAGATTTTCACTG	0.512													T	47030791	G	T	47030791	2	4	364	1	0	0	0	0	0	0	0	1	9679	932	33	4		4	MKNK1	1	47030791	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14003	47030791	202219830	481	23983											
ATPAF1	64756	broad.mit.edu	37	chr1	47101574	47101574	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctccactaacccgtaGgtctctttccgatcagtagc	9	11	8	13	2	3	0	1	0	2	0	6	1	4	0	3	2	2	2	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47101574G>T	ENST00000576409.1	-	9	992	c.930C>A	c.(928-930)acC>acA	p.T310T	ATPAF1_ENST00000532925.1_Silent_p.T199T|ATPAF1_ENST00000542495.1_Silent_p.T136T|ATPAF1_ENST00000329231.4_Silent_p.T242T|ATPAF1_ENST00000371937.4_Silent_p.T287T|ATPAF1_ENST00000574428.1_Silent_p.T219T			Q5TC12	ATPF1_HUMAN	ATP synthase mitochondrial F1 complex assembly factor 1	287					protein complex assembly	mitochondrion	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Acute lymphoblastic leukemia(166;0.155)					CTAACCCGTAGGTCTCTTTCC	0.443													T	47101574	G	T	47101574	2	4	364	1	0	0	0	0	0	0	0	1	1205	987	35	4		4	ATPAF1	1	47101574	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70783	47101574	202149047	482	23984											
CYP4B1	1580	broad.mit.edu	37	chr1	47279658	47279658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtgtccttccagtaccAtaatgacttcatctactggc	8	14	6	13	0	2	1	1	1	1	0	4	1	4	1	4	1	2	1	4	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47279658A>G	ENST00000271153.4	+	6	731	c.695A>G	c.(694-696)cAt>cGt	p.H232R	CYP4B1_ENST00000371923.4_Missense_Mutation_p.H233R|CYP4B1_ENST00000371919.4_Missense_Mutation_p.H218R|CYP4B1_ENST00000452782.2_Missense_Mutation_p.H70R			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	232					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					TTCCAGTACCATAATGACTTC	0.587													G	47279658	A	G	47279658	3	3	364	1	0	0	0	0	1	0	0	0	4218	217	8	3	720	3	CYP4B1	1	47279658	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	178084	47279658	201970963	483	23985											
CYP4B1	1580	broad.mit.edu	37	chr1	47283692	47283692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacagtgctgtatggccCgaccctgaggtaccctttcc	8	9	11	13	1	0	1	0	1	0	0	1	3	1	2	4	3	3	3	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47283692C>T	ENST00000271153.4	+	10	1296	c.1260C>T	c.(1258-1260)ccC>ccT	p.P420P	CYP4B1_ENST00000371923.4_Silent_p.P421P|CYP4B1_ENST00000371919.4_Silent_p.P406P|CYP4B1_ENST00000452782.2_Silent_p.P258P			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	420					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	p.P420P(1)		NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					CTGTATGGCCCGACCCTGAGG	0.582													T	47283692	C	T	47283692	2	4	364	1	0	0	0	0	0	0	0	1	4218	639	23	1		1	CYP4B1	1	47283692	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4034	47283692	201966929	484	23986											
CYP4X1	260293	broad.mit.edu	37	chr1	47501531	47501531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagcgtggaggtctatgaGcacatcaactcgatgtctct	11	10	10	10	2	3	1	1	1	2	0	5	3	3	2	0	2	3	1	0	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501531G>T	ENST00000371901.3	+	5	796	c.546G>T	c.(544-546)gaG>gaT	p.E182D	CYP4X1_ENST00000538609.1_Missense_Mutation_p.E181D	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	182						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						AGGTCTATGAGCACATCAACT	0.483													T	47501531	G	T	47501531	3	4	364	1	0	0	0	0	1	0	0	0	4226	962	34	4	564	4	CYP4X1	1	47501531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217839	47501531	201749090	485	23987											
CYP4X1	260293	broad.mit.edu	37	chr1	47501745	47501745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaatcatatttcaccGcttgtacagtttgttgtatc	11	15	6	9	1	2	0	2	0	0	0	3	0	2	0	1	0	2	6	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47501745G>A	ENST00000371901.3	+	6	927	c.677G>A	c.(676-678)cGc>cAc	p.R226H	CYP4X1_ENST00000538609.1_Missense_Mutation_p.R225H	NM_178033.1	NP_828847.1	Q8N118	CP4X1_HUMAN	cytochrome P450, family 4, subfamily X, polypeptide 1	226						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	17						ATATTTCACCGCTTGTACAGT	0.393													A	47501745	G	A	47501745	3	1	364	1	0	0	0	0	1	0	0	0	4226	1087	38	1	699	1	CYP4X1	1	47501745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214	47501745	201748876	486	23988											
CYP4Z1	199974	broad.mit.edu	37	chr1	47548008	47548008	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctctcatttcataaggtCgaggacttgtgaccctggat	8	12	9	12	1	2	1	2	1	1	0	4	4	2	3	3	3	0	0	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47548008C>T	ENST00000334194.3	+	4	370	c.367C>T	c.(367-369)Cga>Tga	p.R123*		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	123						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						TTCATAAGGTCGAGGACTTGT	0.448													T	47548008	C	T	47548008	4	4	364	1	0	0	0	0	0	1	0	0	4227	876	31	1	381	1	CYP4Z1	1	47548008	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46263	47548008	201702613	487	23989											
CYP4A22	284541	broad.mit.edu	37	chr1	47603166	47603166	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgcaccatgagtgtCtctgtcctgagccccagcag	7	9	12	13	0	1	2	0	2	1	0	3	2	2	2	4	1	4	3	4	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47603166C>A	ENST00000371891.3	+	1	40	c.9C>A	c.(7-9)gtC>gtA	p.V3V	CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000371890.3_Silent_p.V3V|CYP4A22_ENST00000294337.3_Silent_p.V3V|CYP4A22_ENST00000485117.1_3'UTR	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	3						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCATGAGTGTCTCTGTCCTGA	0.602													A	47603166	C	A	47603166	2	1	364	1	0	0	0	0	0	0	0	1	4217	900	32	4		4	CYP4A22	1	47603166	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55158	47603166	201647455	488	23990											
TAL1	6886	broad.mit.edu	37	chr1	47689770	47689770	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggctccccaaagaacccGctgtgggagggaacgggcag	9	4	15	13	3	0	1	0	0	0	1	2	3	2	3	4	4	2	3	4	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47689770G>A	ENST00000294339.3	-	3	1023	c.447C>T	c.(445-447)agC>agT	p.S149S	TAL1_ENST00000371884.2_Splice_Site_p.S149S|TAL1_ENST00000371883.3_Silent_p.S151S	NM_003189.2	NP_003180.1	P17542	TAL1_HUMAN	T-cell acute lymphocytic leukemia 1	149					basophil differentiation|cell fate commitment|cell proliferation|embryonic hemopoiesis|erythrocyte differentiation|megakaryocyte differentiation|positive regulation of cell division|positive regulation of chromatin assembly or disassembly|positive regulation of erythrocyte differentiation|positive regulation of mitotic cell cycle|positive regulation of protein complex assembly|positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	E-box binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity			haematopoietic_and_lymphoid_tissue(1)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	15						CAAAGAACCCGCTGTGGGAGG	0.557			T	"TRD@, SIL"	lymphoblastic leukemia/biphasic								A	47689770	G	A	47689770	5	1	364	1	0	0	0	0	0	0	1	0	15638	1101	38	1	556	1	TAL1	1	47689770	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86604	47689770	201560851	489	23991											
STIL	6491	broad.mit.edu	37	chr1	47725975	47725975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttacctggcgtgatccacGttatgtgcatttttcttcac	7	16	8	10	2	2	1	1	1	1	0	3	1	3	1	2	1	2	3	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47725975G>T	ENST00000360380.3	-	17	3426	c.3063C>A	c.(3061-3063)aaC>aaA	p.N1021K	STIL_ENST00000371877.3_Missense_Mutation_p.N1022K|STIL_ENST00000396221.2_Missense_Mutation_p.N1004K|STIL_ENST00000243182.6_Missense_Mutation_p.N1021K|STIL_ENST00000337817.5_Missense_Mutation_p.N1021K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	1021					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				CGTGATCCACGTTATGTGCAT	0.308													T	47725975	G	T	47725975	3	4	364	1	0	0	0	0	1	0	0	0	15378	1136	40	4	808	4	STIL	1	47725975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36205	47725975	201524646	490	23992											
STIL	6491	broad.mit.edu	37	chr1	47767270	47767270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcatctacactgtgaactAtcatttctcttgaacaaagt	13	14	5	9	0	4	2	2	2	2	0	5	2	4	2	0	0	3	0	0	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47767270A>G	ENST00000360380.3	-	6	779	c.416T>C	c.(415-417)aTa>aCa	p.I139T	STIL_ENST00000371877.3_Missense_Mutation_p.I139T|STIL_ENST00000396221.2_Missense_Mutation_p.I139T|STIL_ENST00000243182.6_Missense_Mutation_p.I139T|STIL_ENST00000337817.5_Missense_Mutation_p.I139T	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	139					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				ACTGTGAACTATCATTTCTCT	0.368													G	47767270	A	G	47767270	3	3	364	1	0	0	0	0	1	0	0	0	15378	449	16	3	3502	3	STIL	1	47767270	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	41295	47767270	201483351	491	23993											
CMPK1	51727	broad.mit.edu	37	chr1	47834233	47834233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgaacttattgaaaagtaCattaaagaaggaaagattgt	18	11	10	2	0	0	4	0	2	0	2	0	5	0	5	0	2	2	1	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47834233C>T	ENST00000371873.5	+	2	413	c.264C>T	c.(262-264)taC>taT	p.Y88Y	CMPK1_ENST00000450808.2_Intron	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	56					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	TTGAAAAGTACATTAAAGAAG	0.403													T	47834233	C	T	47834233	2	4	364	1	0	0	0	0	0	0	0	1	3611	489	17	2		2	CMPK1	1	47834233	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66963	47834233	201416388	492	23994											
CMPK1	51727	broad.mit.edu	37	chr1	47842396	47842396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgatgaagttgtgcaGatttttgacaaggaaggcta	11	15	12	3	0	0	4	0	3	0	1	0	5	0	5	0	2	1	4	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:47842396G>T	ENST00000371873.5	+	6	815	c.666G>T	c.(664-666)caG>caT	p.Q222H	CMPK1_ENST00000450808.2_Missense_Mutation_p.Q173H	NM_001136140.1|NM_016308.2	NP_001129612.1|NP_057392.1	P30085	KCY_HUMAN	cytidine monophosphate (UMP-CMP) kinase 1, cytosolic	190					nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleus	ATP binding|cytidylate kinase activity|nucleoside phosphate kinase activity|uridine kinase activity			endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(2)	8					Gemcitabine(DB00441)	AAGTTGTGCAGATTTTTGACA	0.318													T	47842396	G	T	47842396	3	4	364	1	0	0	0	0	1	0	0	0	3611	933	33	4	688	4	CMPK1	1	47842396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8163	47842396	201408225	493	23995											
SLC5A9	200010	broad.mit.edu	37	chr1	48697656	48697656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtacccaggcctggagcagCggtacaggcaggccatccct	8	5	14	14	1	0	0	0	0	0	0	1	1	1	1	4	6	4	4	4	6	2	2	rs149962239	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:48697656C>T	ENST00000236495.5	+	8	855	c.805C>T	c.(805-807)Cgg>Tgg	p.R269W	SLC5A9_ENST00000420136.2_Intron|SLC5A9_ENST00000438567.2_Missense_Mutation_p.R244W|SLC5A9_ENST00000533824.1_Missense_Mutation_p.R265W	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	244			I -> M (in dbSNP:rs212991).			integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CCTGGAGCAGCGGTACAGGCA	0.612													T	48697656	C	T	48697656	3	4	364	1	0	0	0	0	1	0	0	0	14766	759	27	1	835	1	SLC5A9	1	48697656	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	855260	48697656	200552965	494	23996											
BEND5	79656	broad.mit.edu	37	chr1	49224836	49224836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctggcgaggcctccaCgaagacctcttccggacacg	7	7	12	15	4	1	1	0	0	1	1	3	4	3	2	5	3	1	0	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:49224836C>T	ENST00000371833.3	-	3	567	c.481G>A	c.(481-483)Gtg>Atg	p.V161M	AGBL4_ENST00000371838.1_Intron|BEND5_ENST00000476096.1_5'UTR|AGBL4_ENST00000371839.1_Intron	NM_024603.2	NP_078879.2	Q7L4P6	BEND5_HUMAN	BEN domain containing 5	161										large_intestine(5)|lung(2)|skin(1)	8						GAGGCCTCCACGAAGACCTCT	0.612													T	49224836	C	T	49224836	3	4	364	1	0	0	0	0	1	0	0	0	1406	536	19	1	800	1	BEND5	1	49224836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	527180	49224836	200025785	495	23997											
ELAVL4	1996	broad.mit.edu	37	chr1	50642804	50642804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttaactatattgatccaaaGgatgcagagaaagccatcaa	17	9	8	7	0	1	2	1	1	0	1	2	4	2	3	2	1	3	2	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:50642804G>T	ENST00000371824.1	+	3	551	c.294G>T	c.(292-294)aaG>aaT	p.K98N	ELAVL4_ENST00000371819.1_Missense_Mutation_p.K103N|ELAVL4_ENST00000371827.1_Missense_Mutation_p.K98N|ELAVL4_ENST00000371821.1_Missense_Mutation_p.K103N|ELAVL4_ENST00000492299.1_3'UTR|ELAVL4_ENST00000371823.4_Missense_Mutation_p.K98N|ELAVL4_ENST00000357083.4_Missense_Mutation_p.K115N|ELAVL4_ENST00000448907.2_Missense_Mutation_p.K101N			P26378	ELAV4_HUMAN	ELAV like neuron-specific RNA binding protein 4	98	RRM 1.				mRNA processing		AU-rich element binding|mRNA 3'-UTR binding|nucleotide binding			NS(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	32						TTGATCCAAAGGATGCAGAGA	0.423													T	50642804	G	T	50642804	3	4	364	1	0	0	0	0	1	0	0	0	5093	991	35	4	403	4	ELAVL4	1	50642804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1417968	50642804	198607817	496	23998											
FAF1	11124	broad.mit.edu	37	chr1	51061795	51061795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctggcaaacaggcttacttCttccgactgttcccgggtct	6	12	10	13	2	2	0	0	0	2	0	4	1	4	0	2	3	2	4	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51061795C>T	ENST00000396153.2	-	9	1289	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FAF1_ENST00000545823.1_Missense_Mutation_p.E38K|FAF1_ENST00000472808.1_5'UTR|FAF1_ENST00000371778.4_Missense_Mutation_p.E280K	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	280					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(1)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AGGCTTACTTCTTCCGACTGT	0.488													T	51061795	C	T	51061795	3	4	364	1	0	0	0	0	1	0	0	0	5414	922	32	2	1158	2	FAF1	1	51061795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418991	51061795	198188826	497	23999											
FAF1	11124	broad.mit.edu	37	chr1	51210375	51210375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcttccacatctcccGtcttccagccttttaacagc	7	13	4	17	1	3	0	0	0	3	0	6	0	5	0	4	0	3	0	4	0	1	4	rs149117642		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51210375G>A	ENST00000396153.2	-	5	891	c.440C>T	c.(439-441)aCg>aTg	p.T147M	FAF1_ENST00000371778.4_Missense_Mutation_p.T147M	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	147					apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity	p.0?(2)		breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		CACATCTCCCGTCTTCCAGCC	0.299													A	51210375	G	A	51210375	3	1	364	1	0	0	0	0	1	0	0	0	5414	1145	40	1	1572	1	FAF1	1	51210375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148580	51210375	198040246	498	24000											
TTC39A	22996	broad.mit.edu	37	chr1	51787393	51787393	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccggggcttgagcctcacCtgggcttgaggtagctgagt	7	9	15	10	1	1	3	1	3	0	0	1	3	1	3	3	4	3	4	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51787393C>A	ENST00000262676.5	-	2	297	c.137G>T	c.(136-138)aGa>aTa	p.R46I	TTC39A_ENST00000262675.7_Splice_Site_p.R22I|TTC39A_ENST00000413473.2_Splice_Site_p.R53I|TTC39A_ENST00000451380.1_Splice_Site_p.R49I|TTC39A_ENST00000447632.2_Splice_Site_p.R50I|TTC39A_ENST00000371747.3_Splice_Site_p.R49I|TTC39A_ENST00000371750.5_Splice_Site_p.R50I			Q5SRH9	TT39A_HUMAN	tetratricopeptide repeat domain 39A	50							binding	p.0?(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(2)|prostate(2)|skin(3)|urinary_tract(1)	17						TGAGCCTCACCTGGGCTTGAG	0.582													A	51787393	C	A	51787393	5	1	364	1	0	0	0	0	0	0	1	0	16809	695	24	4	1655	4	TTC39A	1	51787393	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577018	51787393	197463228	499	24001											
EPS15	2060	broad.mit.edu	37	chr1	51875340	51875340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagtttttgcagattagtaTtctccctttgaacttcatct	8	19	6	8	0	3	2	1	1	2	1	4	2	3	2	1	0	2	4	1	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:51875340T>C	ENST00000371733.3	-	14	1238	c.1142A>G	c.(1141-1143)aAt>aGt	p.N381S	EPS15_ENST00000493793.1_5'UTR|EPS15_ENST00000371730.2_Missense_Mutation_p.N381S|EPS15_ENST00000396122.4_Missense_Mutation_p.N58S	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	381					cell proliferation|clathrin coat assembly|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|protein transport	cytosol|early endosome membrane	calcium ion binding|SH3 domain binding	p.0?(2)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGATTAGTATTCTCCCTTTG	0.398			T	MLL	ALL								C	51875340	T	C	51875340	3	2	364	1	0	0	0	0	1	0	0	0	5233	1493	52	3	1596	3	EPS15	1	51875340	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87947	51875340	197375281	500	24002											
NRD1	4898	broad.mit.edu	37	chr1	52289367	52289367	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactaaagtcatgtaatgAgaagagtagtaacgcatcca	17	8	8	8	1	1	2	1	1	0	2	2	3	2	2	2	0	1	4	2	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52289367A>C	ENST00000354831.7	-	9	1521	c.1332T>G	c.(1330-1332)tcT>tcG	p.S444S	NRD1_ENST00000352171.7_Silent_p.S376S|NRD1_ENST00000544028.1_Silent_p.S244S|NRD1_ENST00000539524.1_Silent_p.S312S|NRD1_ENST00000485608.1_5'UTR	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	375					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TCATGTAATGAGAAGAGTAGT	0.368													C	52289367	A	C	52289367	2	2	364	1	0	0	0	0	0	0	0	1	10721	291	11	5		5	NRD1	1	52289367	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	414027	52289367	196961254	501	24003											
NRD1	4898	broad.mit.edu	37	chr1	52343976	52343976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggggtcgctgggagacttGacgatctcagggtccccagc	6	9	15	11	2	1	2	1	1	1	1	4	4	2	2	2	4	1	1	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52343976G>A	ENST00000354831.7	-	1	501	c.312C>T	c.(310-312)gtC>gtT	p.V104V	NRD1_ENST00000352171.7_Silent_p.V104V|NRD1_ENST00000544028.1_Intron	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	104					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TGGGAGACTTGACGATCTCAG	0.612													A	52343976	G	A	52343976	2	1	364	1	0	0	0	0	0	0	0	1	10721	1277	45	2		2	NRD1	1	52343976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54609	52343976	196906645	502	24004											
CC2D1B	200014	broad.mit.edu	37	chr1	52825168	52825168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcactcagatccacgggCtgccccttctccagggcctc	6	8	10	17	1	2	1	1	0	1	1	5	1	3	1	5	3	1	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52825168C>A	ENST00000371586.2	-	9	1119	c.981G>T	c.(979-981)caG>caT	p.Q327H	CC2D1B_ENST00000460261.1_5'UTR|CC2D1B_ENST00000438831.1_5'UTR|CC2D1B_ENST00000284376.3_Missense_Mutation_p.Q327H	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	327										breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GATCCACGGGCTGCCCCTTCT	0.627													A	52825168	C	A	52825168	3	1	364	1	0	0	0	0	1	0	0	0	2753	796	28	4	1659	4	CC2D1B	1	52825168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481192	52825168	196425453	503	24005											
ZCCHC11	23318	broad.mit.edu	37	chr1	52903911	52903911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttttccttttagggcagtCtttcatgtagtggcctattt	5	19	8	9	0	2	0	1	0	1	0	3	0	3	0	3	2	0	2	3	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52903911C>T	ENST00000371544.3	-	25	4181	c.3919G>A	c.(3919-3921)Gac>Aac	p.D1307N	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.D1307N	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1307					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TTAGGGCAGTCTTTCATGTAG	0.368													T	52903911	C	T	52903911	3	4	364	1	0	0	0	0	1	0	0	0	17681	913	32	2	1042	2	ZCCHC11	1	52903911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78743	52903911	196346710	504	24006											
ZCCHC11	23318	broad.mit.edu	37	chr1	52924096	52924096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catatgaagataaacttcccCtggaagcatccccaatgtca	14	9	6	12	0	1	2	1	1	0	1	3	3	3	3	4	1	2	1	4	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52924096C>A	ENST00000371544.3	-	20	3609	c.3347G>T	c.(3346-3348)aGg>aTg	p.R1116M	ZCCHC11_ENST00000257177.4_Missense_Mutation_p.R1116M	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1116					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TAAACTTCCCCTGGAAGCATC	0.393													A	52924096	C	A	52924096	3	1	364	1	0	0	0	0	1	0	0	0	17681	681	24	4	1634	4	ZCCHC11	1	52924096	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20185	52924096	196326525	505	24007											
ZCCHC11	23318	broad.mit.edu	37	chr1	52981602	52981602	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatctctttctaagcgttcTtctgcttgtttcaaccccag	6	17	6	12	1	5	1	1	1	4	0	6	1	5	1	2	0	3	3	2	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:52981602T>G	ENST00000371544.3	-	3	1105	c.843A>C	c.(841-843)gaA>gaC	p.E281D	ZCCHC11_ENST00000371541.1_5'UTR|ZCCHC11_ENST00000257177.4_Missense_Mutation_p.E281D|ZCCHC11_ENST00000355809.4_Missense_Mutation_p.E281D	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	281					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						CTAAGCGTTCTTCTGCTTGTT	0.378													G	52981602	T	G	52981602	3	3	364	1	0	0	0	0	1	0	0	0	17681	1606	56	5	4206	5	ZCCHC11	1	52981602	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57506	52981602	196269019	506	24008											
FAM159A	348378	broad.mit.edu	37	chr1	53122674	53122674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagccctgaggaagccTctgtacccaaccctgaccta	10	6	9	16	0	1	2	0	2	1	0	1	3	1	3	5	2	4	2	5	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53122674T>C	ENST00000517870.1	+	3	685	c.535T>C	c.(535-537)Tct>Cct	p.S179P	FAM159A_ENST00000401050.3_Intron	NM_001042693.1	NP_001036158.1	Q6UWV7	F159A_HUMAN	family with sequence similarity 159, member A	179						integral to membrane				endometrium(3)|lung(6)|upper_aerodigestive_tract(1)	10						TGAGGAAGCCTCTGTACCCAA	0.527													C	53122674	T	C	53122674	3	2	364	1	0	0	0	0	1	0	0	0	5513	1551	54	3	545	3	FAM159A	1	53122674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141072	53122674	196127947	507	24009											
SCP2	6342	broad.mit.edu	37	chr1	53416537	53416537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctactgctttgtttatgGcccgccagctgattcagggt	5	15	11	10	1	2	1	1	1	1	0	2	1	2	1	2	2	3	4	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53416537G>A	ENST00000371514.3	+	4	478	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	SCP2_ENST00000371513.5_Intron|SCP2_ENST00000407246.2_Missense_Mutation_p.A80T|SCP2_ENST00000371509.4_Intron|SCP2_ENST00000528311.1_Missense_Mutation_p.A23T	NM_002979.4	NP_002970.2	P22307	NLTP_HUMAN	sterol carrier protein 2	104					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|lipid transport	mitochondrion|nucleus|peroxisomal matrix	propanoyl-CoA C-acyltransferase activity|propionyl-CoA C2-trimethyltridecanoyltransferase activity|protein binding|sterol binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	15						TTTGTTTATGGCCCGCCAGCT	0.413													A	53416537	G	A	53416537	3	1	364	1	0	0	0	0	1	0	0	0	14027	1203	42	2	324	2	SCP2	1	53416537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293863	53416537	195834084	508	24010											
PODN	127435	broad.mit.edu	37	chr1	53542887	53542887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtacctgcacaacaacaagCtggcagacgccgggctgccg	10	5	12	14	3	0	1	0	0	0	1	0	1	0	1	3	2	6	5	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542887C>A	ENST00000371500.3	+	8	1035	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Missense_Mutation_p.L251M	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	203					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAACAACAAGCTGGCAGACGC	0.627													A	53542887	C	A	53542887	3	1	364	1	0	0	0	0	1	0	0	0	12255	796	28	4	773	4	PODN	1	53542887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126350	53542887	195707734	509	24011											
PODN	127435	broad.mit.edu	37	chr1	53542952	53542952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcgaggtcctcatcctGtccagcaacttcctgcgcca	8	9	8	16	3	1	0	1	0	0	0	6	1	5	0	5	1	4	1	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53542952G>A	ENST00000371500.3	+	8	1100	c.759G>A	c.(757-759)ctG>ctA	p.L253L	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Intron|PODN_ENST00000312553.5_Silent_p.L272L	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	224					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TCCTCATCCTGTCCAGCAACT	0.632													A	53542952	G	A	53542952	2	1	364	1	0	0	0	0	0	0	0	1	12255	1364	48	2		2	PODN	1	53542952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65	53542952	195707669	510	24012											
PODN	127435	broad.mit.edu	37	chr1	53544532	53544532	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctgccacctgggctgccTcgaaatgtccatgtgctgaa	8	9	11	13	2	0	1	0	1	0	0	2	2	1	1	4	1	3	3	4	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53544532T>C	ENST00000371500.3	+	10	1778	c.1437T>C	c.(1435-1437)ccT>ccC	p.P479P	RP11-334A14.5_ENST00000447867.1_RNA|PODN_ENST00000395871.2_Silent_p.P356P|PODN_ENST00000312553.5_Silent_p.P498P	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	450					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTGGGCTGCCTCGAAATGTCC	0.672													C	53544532	T	C	53544532	2	2	364	1	0	0	0	0	0	0	0	1	12255	1538	54	3		3	PODN	1	53544532	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1580	53544532	195706089	511	24013											
SLC1A7	6512	broad.mit.edu	37	chr1	53580505	53580505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtctccttctgggccGcgctgcctgggtggatgatg	2	11	16	12	3	2	1	0	1	2	0	3	2	2	2	4	4	1	1	4	4	0	1	rs141274422	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53580505G>A	ENST00000371494.4	-	3	483	c.356C>T	c.(355-357)gCg>gTg	p.A119V	SLC1A7_ENST00000371491.4_Missense_Mutation_p.A119V|RP11-334A14.8_ENST00000439621.1_RNA	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	119						integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)	L-Glutamic Acid(DB00142)	CTTCTGGGCCGCGCTGCCTGG	0.622													A	53580505	G	A	53580505	3	1	364	1	0	0	0	0	1	0	0	0	14531	1087	38	1	1362	1	SLC1A7	1	53580505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35973	53580505	195670116	512	24014											
CPT2	1376	broad.mit.edu	37	chr1	53679163	53679163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactggataggctgcaatGtctcttcctacccaggccgc	9	9	9	14	1	1	0	0	0	1	0	3	1	2	1	3	3	3	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53679163G>A	ENST00000371486.3	+	5	2388	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	RP5-1024G6.2_ENST00000452466.1_RNA	NM_000098.2	NP_000089.1	P23786	CPT2_HUMAN	carnitine palmitoyltransferase 2	625					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	mitochondrial inner membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	15					L-Carnitine(DB00583)|Perhexiline(DB01074)	AGGCTGCAATGTCTCTTCCTA	0.517													A	53679163	G	A	53679163	3	1	364	1	0	0	0	0	1	0	0	0	3865	1377	48	2	1891	2	CPT2	1	53679163	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98658	53679163	195571458	513	24015											
GLIS1	148979	broad.mit.edu	37	chr1	53980441	53980441	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttatggggggtgatggaGccaggatacacacctgcagg	9	7	16	9	1	0	1	0	1	0	0	0	3	0	3	3	6	3	2	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:53980441G>A	ENST00000312233.2	-	7	1781	c.1215C>T	c.(1213-1215)ggC>ggT	p.G405G		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	405					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GGGTGATGGAGCCAGGATACA	0.607													A	53980441	G	A	53980441	2	1	364	1	0	0	0	0	0	0	0	1	6501	958	34	2		2	GLIS1	1	53980441	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301278	53980441	195270180	514	24016											
GLIS1	148979	broad.mit.edu	37	chr1	54060032	54060032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccaggcccagccccaGgcctccaaggcttgggccag	6	4	13	18	0	0	0	0	0	0	0	1	0	1	0	8	4	2	1	8	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54060032G>T	ENST00000312233.2	-	3	1110	c.544C>A	c.(544-546)Ctg>Atg	p.L182M		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	182					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						CCCAGCCCCAGGCCTCCAAGG	0.697													T	54060032	G	T	54060032	3	4	364	1	0	0	0	0	1	0	0	0	6501	991	35	4	1350	4	GLIS1	1	54060032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79591	54060032	195190589	515	24017											
YIPF1	54432	broad.mit.edu	37	chr1	54348857	54348857	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagcctcttggggatcCtggctgatgttttggggttt	3	16	14	8	0	1	2	0	2	1	0	3	3	3	3	3	5	1	3	3	5	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54348857C>A	ENST00000072644.1	-	4	460	c.124G>T	c.(124-126)Gga>Tga	p.G42*	YIPF1_ENST00000539954.1_Nonsense_Mutation_p.G67*|YIPF1_ENST00000371399.1_De_novo_Start_OutOfFrame|YIPF1_ENST00000469457.1_Intron	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	42						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						CTTGGGGATCCTGGCTGATGT	0.433													A	54348857	C	A	54348857	4	1	364	1	0	0	0	0	0	1	0	0	17579	690	24	4	824	4	YIPF1	1	54348857	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	288825	54348857	194901764	516	24018											
HSPB11	51668	broad.mit.edu	37	chr1	54395798	54395798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggaaacattcctgtggtgGtccaaaacgtttctggattc	9	12	12	8	1	1	0	0	0	1	0	4	2	3	2	2	5	2	1	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54395798G>A	ENST00000194214.5	-	3	508	c.119C>T	c.(118-120)aCc>aTc	p.T40I	HSPB11_ENST00000371376.1_Missense_Mutation_p.T40I|HSPB11_ENST00000371378.2_Missense_Mutation_p.T40I|HSPB11_ENST00000371377.3_Missense_Mutation_p.T40I	NM_016126.2	NP_057210.2	Q9Y547	HSB11_HUMAN	heat shock protein family B (small), member 11	40					cell adhesion|response to stress					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	9						TCCTGTGGTGGTCCAAAACGT	0.294													A	54395798	G	A	54395798	3	1	364	1	0	0	0	0	1	0	0	0	7476	1261	44	2	331	2	HSPB11	1	54395798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46941	54395798	194854823	517	24019											
TMEM59	9528	broad.mit.edu	37	chr1	54518691	54518691	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accttagggtaggtgtgcaaGgggtaggtcaactgacaggc	10	8	16	7	0	1	1	1	1	0	0	1	1	1	1	1	6	2	3	1	6	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54518691G>T	ENST00000234831.5	-	1	420	c.171C>A	c.(169-171)ccC>ccA	p.P57P	TMEM59_ENST00000371337.3_Silent_p.P57P|TMEM59_ENST00000371341.1_Intron	NM_004872.3	NP_004863.2	Q9BXS4	TMM59_HUMAN	transmembrane protein 59	57						Golgi membrane|integral to membrane				kidney(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7						AGGTGTGCAAGGGGTAGGTCA	0.637													T	54518691	G	T	54518691	2	4	364	1	0	0	0	0	0	0	0	1	16285	987	35	4		4	TMEM59	1	54518691	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122893	54518691	194731930	518	24020											
CDCP2	200008	broad.mit.edu	37	chr1	54605592	54605592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatcgaaggccgccagatgGtcaaagtcacaggtcttggt	10	8	12	11	2	3	1	2	0	1	1	4	2	3	1	3	4	0	0	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54605592G>A	ENST00000371330.1	-	4	1798	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	317	CUB 3.					extracellular region				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						CCGCCAGATGGTCAAAGTCAC	0.637													A	54605592	G	A	54605592	2	1	364	1	0	0	0	0	0	0	0	1	3124	1252	44	2		2	CDCP2	1	54605592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86901	54605592	194645029	519	24021											
MRPL37	51253	broad.mit.edu	37	chr1	54678284	54678284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcgggccaagatgatcCtgtttgcttttggcagtgcc	6	12	13	10	1	0	2	0	1	0	1	1	2	1	2	3	2	4	4	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54678284C>A	ENST00000605337.1	+	5	991	c.943C>A	c.(943-945)Ctg>Atg	p.L315M	MRPL37_ENST00000336230.6_Missense_Mutation_p.L184M|MRPL37_ENST00000360840.5_Missense_Mutation_p.L315M			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	315					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						CAAGATGATCCTGTTTGCTTT	0.542													A	54678284	C	A	54678284	3	1	364	1	0	0	0	0	1	0	0	0	9876	680	24	4	961	4	MRPL37	1	54678284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72692	54678284	194572337	520	24022											
MRPL37	51253	broad.mit.edu	37	chr1	54681864	54681864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcagagcgtgggcacGgatggacgtgtcttccattt	6	11	16	8	3	1	1	0	0	1	1	2	3	2	3	1	4	2	2	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:54681864G>A	ENST00000605337.1	+	6	1089	c.1041G>A	c.(1039-1041)acG>acA	p.T347T	MRPL37_ENST00000336230.6_Silent_p.T216T|MRPL37_ENST00000360840.5_Silent_p.T347T			Q9BZE1	RM37_HUMAN	mitochondrial ribosomal protein L37	347					translation	mitochondrial ribosome	structural constituent of ribosome			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(4)|skin(2)	19						GCGTGGGCACGGATGGACGTG	0.517													A	54681864	G	A	54681864	2	1	364	1	0	0	0	0	0	0	0	1	9876	1103	39	1		1	MRPL37	1	54681864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3580	54681864	194568757	521	24023											
ACOT11	26027	broad.mit.edu	37	chr1	55065012	55065012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctgaaggccattgaaatgTtccacttccgaggcccgtcc	8	9	10	14	3	0	2	0	2	0	0	3	3	3	2	5	2	0	2	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55065012T>C	ENST00000371316.3	+	8	890	c.808T>C	c.(808-810)Ttc>Ctc	p.F270L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.F270L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	270	Acyl coenzyme A hydrolase 2.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CATTGAAATGTTCCACTTCCG	0.612													C	55065012	T	C	55065012	3	2	364	1	0	0	0	0	1	0	0	0	149	1725	60	3	838	3	ACOT11	1	55065012	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383148	55065012	194185609	522	24024											
ACOT11	26027	broad.mit.edu	37	chr1	55069583	55069583	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagacagaggtgcccctCtccgtcccctgggaccctag	8	6	11	16	1	1	2	0	0	1	2	3	3	2	3	6	2	2	1	6	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55069583C>A	ENST00000371316.3	+	11	1207	c.1125C>A	c.(1123-1125)ctC>ctA	p.L375L	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Silent_p.L375L	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	375	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						AGGTGCCCCTCTCCGTCCCCT	0.587													A	55069583	C	A	55069583	2	1	364	1	0	0	0	0	0	0	0	1	149	900	32	4		4	ACOT11	1	55069583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4571	55069583	194181038	523	24025											
TTC4	7268	broad.mit.edu	37	chr1	55188406	55188406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgaactggtgtgatgaGggactgcaaatagatgccaa	12	8	14	7	1	0	4	0	3	0	1	0	5	0	5	2	2	3	1	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55188406G>T	ENST00000371281.3	+	5	615	c.528G>T	c.(526-528)gaG>gaT	p.E176D	MROH7-TTC4_ENST00000414150.2_3'UTR|TTC4_ENST00000371284.5_3'UTR	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	176							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GGTGTGATGAGGGACTGCAAA	0.468													T	55188406	G	T	55188406	3	4	364	1	0	0	0	0	1	0	0	0	16812	991	35	4	546	4	TTC4	1	55188406	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118823	55188406	194062215	524	24026											
PARS2	25973	broad.mit.edu	37	chr1	55224353	55224353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcaattaaggccgtaatgGcttcctcgtgagttggtcct	8	12	12	9	2	0	1	0	1	0	0	3	1	2	1	3	4	0	4	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55224353G>A	ENST00000371279.3	-	2	564	c.482C>T	c.(481-483)gCc>gTc	p.A161V		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	161					prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	GGCCGTAATGGCTTCCTCGTG	0.532													A	55224353	G	A	55224353	3	1	364	1	0	0	0	0	1	0	0	0	11543	1203	42	2	949	2	PARS2	1	55224353	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35947	55224353	194026268	525	24027											
DHCR24	1718	broad.mit.edu	37	chr1	55319198	55319198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccccatatgctccaatgtCgatgtagagctctgcctcat	8	12	7	14	1	2	1	1	0	1	1	5	2	4	1	4	0	3	3	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319198C>T	ENST00000371269.3	-	8	1404	c.1306G>A	c.(1306-1308)Gac>Aac	p.D436N	DHCR24_ENST00000535035.1_Missense_Mutation_p.D395N|DHCR24_ENST00000537443.1_Missense_Mutation_p.D220N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	436					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTCCAATGTCGATGTAGAGC	0.582													T	55319198	C	T	55319198	3	4	364	1	0	0	0	0	1	0	0	0	4515	884	31	1	252	1	DHCR24	1	55319198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94845	55319198	193931423	526	24028											
DHCR24	1718	broad.mit.edu	37	chr1	55319719	55319719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccactcacgtggatgtcGttttggaaggtgtgcagggc	6	10	15	10	2	1	0	1	0	0	0	2	2	1	2	2	4	1	2	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55319719G>A	ENST00000371269.3	-	7	1307	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	DHCR24_ENST00000535035.1_Silent_p.N362N|DHCR24_ENST00000537443.1_Silent_p.N187N	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	403					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CGTGGATGTCGTTTTGGAAGG	0.627													A	55319719	G	A	55319719	2	1	364	1	0	0	0	0	0	0	0	1	4515	1136	40	1		1	DHCR24	1	55319719	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	521	55319719	193930902	527	24029											
DHCR24	1718	broad.mit.edu	37	chr1	55337188	55337188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgaaacgcagcttgacGtacttcttggcagggatgat	9	10	13	9	3	1	2	0	2	1	0	2	4	1	3	0	3	3	5	0	3	2	4	rs145971053	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55337188G>A	ENST00000371269.3	-	5	809	c.711C>T	c.(709-711)taC>taT	p.Y237Y	DHCR24_ENST00000535035.1_Silent_p.Y196Y|DHCR24_ENST00000537443.1_Silent_p.Y69Y	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	237					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCAGCTTGACGTACTTCTTGG	0.602													A	55337188	G	A	55337188	2	1	364	1	0	0	0	0	0	0	0	1	4515	1140	40	1		1	DHCR24	1	55337188	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17469	55337188	193913433	528	24030											
DHCR24	1718	broad.mit.edu	37	chr1	55340771	55340771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgaactcaccggagTgcatcgcacaaagctgccat	11	8	9	13	2	1	1	1	1	0	0	2	2	1	2	2	1	5	4	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55340771T>C	ENST00000371269.3	-	4	705	c.607A>G	c.(607-609)Act>Gct	p.T203A	DHCR24_ENST00000535035.1_Missense_Mutation_p.T162A|DHCR24_ENST00000537443.1_Missense_Mutation_p.T35A	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	203	FAD-binding PCMH-type.				anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						CTCACCGGAGTGCATCGCACA	0.567													C	55340771	T	C	55340771	3	2	364	1	0	0	0	0	1	0	0	0	4515	1696	59	3	967	3	DHCR24	1	55340771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3583	55340771	193909850	529	24031											
TMEM61	199964	broad.mit.edu	37	chr1	55452039	55452039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaaggccagcatcccaggGccacctcgatgggaccccta	9	5	11	16	1	1	0	1	0	0	0	3	2	2	1	6	3	1	1	6	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55452039G>A	ENST00000371268.3	+	2	559	c.285G>A	c.(283-285)ggG>ggA	p.G95G	RP11-12C17.2_ENST00000436960.1_RNA	NM_182532.1	NP_872338.1	Q8N0U2	TMM61_HUMAN	transmembrane protein 61	95						integral to membrane				endometrium(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	4						GCATCCCAGGGCCACCTCGAT	0.642													A	55452039	G	A	55452039	2	1	364	1	0	0	0	0	0	0	0	1	16288	1190	42	2		2	TMEM61	1	55452039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111268	55452039	193798582	530	24032											
USP24	23358	broad.mit.edu	37	chr1	55560968	55560968	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccgtacaacgctgactcGacttttctttggtaatactg	8	14	8	11	3	1	1	0	1	1	0	2	2	1	1	1	1	4	3	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:55560968G>A	ENST00000294383.6	-	51	6162	c.6163C>T	c.(6163-6165)Cga>Tga	p.R2055*	USP24_ENST00000407756.1_Nonsense_Mutation_p.R1895*	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2055					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						ACGCTGACTCGACTTTTCTTT	0.448													A	55560968	G	A	55560968	4	1	364	1	0	0	0	0	0	1	0	0	17157	1066	37	1	1771	1	USP24	1	55560968	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108929	55560968	193689653	531	24033											
PRKAA2	5563	broad.mit.edu	37	chr1	57161814	57161814	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgacccactgaaacgagCaactatcaaagacataaggt	16	7	9	9	1	1	3	1	2	0	1	1	4	1	3	1	2	3	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57161814C>A	ENST00000371244.4	+	6	836	c.770C>A	c.(769-771)gCa>gAa	p.A257E		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	257	Protein kinase.				carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						CTGAAACGAGCAACTATCAAA	0.378													A	57161814	C	A	57161814	3	1	364	1	0	0	0	0	1	0	0	0	12580	710	25	4	792	4	PRKAA2	1	57161814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1600846	57161814	192088807	532	24034											
PRKAA2	5563	broad.mit.edu	37	chr1	57170134	57170134	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgagctatgaagcagctgGattttgaatggaaggtagga	13	9	14	5	1	0	2	0	2	0	0	0	6	0	5	1	4	3	4	1	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57170134G>T	ENST00000371244.4	+	7	1345	c.1279G>T	c.(1279-1281)Gat>Tat	p.D427Y		NM_006252.3	NP_006243.2	P54646	AAPK2_HUMAN	protein kinase, AMP-activated, alpha 2 catalytic subunit	427					carnitine shuttle|cell cycle arrest|cholesterol biosynthetic process|energy reserve metabolic process|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleoplasm	ATP binding|metal ion binding			breast(6)|endometrium(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|stomach(1)	23						GAAGCAGCTGGATTTTGAATG	0.373													T	57170134	G	T	57170134	3	4	364	1	0	0	0	0	1	0	0	0	12580	1174	41	4	1305	4	PRKAA2	1	57170134	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8320	57170134	192080487	533	24035											
C1orf168	199920	broad.mit.edu	37	chr1	57233502	57233502	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattggcttagcagacttacGatcagcaatttcttttgcag	11	14	8	8	1	2	1	1	0	1	1	2	2	2	1	0	1	4	4	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57233502G>A	ENST00000343433.6	-	5	1143	c.1063C>T	c.(1063-1065)Cca>Tca	p.P355S	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	355										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GCAGACTTACGATCAGCAATT	0.363													A	57233502	G	A	57233502	5	1	364	1	0	0	0	0	0	0	1	0	2032	1072	37	1	1187	1	C1orf168	1	57233502	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63368	57233502	192017119	534	24036											
C8B	732	broad.mit.edu	37	chr1	57395139	57395139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctacccccattttgaggagGtggattgttacactgccttt	7	14	10	10	0	0	1	0	1	0	0	0	3	0	3	3	3	3	2	3	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57395139G>A	ENST00000543257.1	-	13	2124	c.1558C>T	c.(1558-1560)Cct>Tct	p.P520S	C8B_ENST00000535057.1_Missense_Mutation_p.P510S|C8B_ENST00000371237.4_Missense_Mutation_p.P572S	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	572	EGF-like.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TTTTGAGGAGGTGGATTGTTA	0.483													A	57395139	G	A	57395139	3	1	364	1	0	0	0	0	1	0	0	0	2441	1261	44	2	65	2	C8B	1	57395139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161637	57395139	191855482	535	24037											
C8B	732	broad.mit.edu	37	chr1	57415267	57415267	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcctaatatagtgtttGcctcgatcactttgactact	8	17	6	10	1	2	1	1	1	1	0	4	2	2	1	2	0	2	2	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57415267G>A	ENST00000543257.1	-	7	1235	c.669C>T	c.(667-669)ggC>ggT	p.G223G	C8B_ENST00000535057.1_Silent_p.G213G|C8B_ENST00000371237.4_Silent_p.G275G	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	275	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						TATAGTGTTTGCCTCGATCAC	0.368													A	57415267	G	A	57415267	2	1	364	1	0	0	0	0	0	0	0	1	2441	1306	46	2		2	C8B	1	57415267	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20128	57415267	191835354	536	24038											
C8B	732	broad.mit.edu	37	chr1	57422504	57422504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatggtctgttggtaacaCagtcttcgacttccttgtca	7	14	9	11	2	3	0	1	0	2	0	5	1	4	0	1	2	1	3	1	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57422504C>T	ENST00000543257.1	-	4	739	c.173G>A	c.(172-174)tGt>tAt	p.C58Y	C8B_ENST00000535057.1_Missense_Mutation_p.C48Y|C8B_ENST00000371237.4_Missense_Mutation_p.C110Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	110					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GTTGGTAACACAGTCTTCGAC	0.502													T	57422504	C	T	57422504	3	4	364	1	0	0	0	0	1	0	0	0	2441	478	17	2	1486	2	C8B	1	57422504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7237	57422504	191828117	537	24039											
C8B	732	broad.mit.edu	37	chr1	57425741	57425741	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagaggaccaactagaCagctcacaatcaatgggcat	15	6	9	11	0	2	2	2	0	0	2	3	3	3	3	2	2	2	2	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:57425741C>T	ENST00000543257.1	-	3	611	c.45G>A	c.(43-45)ctG>ctA	p.L15L	C8B_ENST00000494324.1_5'UTR|C8B_ENST00000535057.1_5'UTR|C8B_ENST00000371237.4_Silent_p.L67L	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	67					complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACCAACTAGACAGCTCACAAT	0.517													T	57425741	C	T	57425741	2	4	364	1	0	0	0	0	0	0	0	1	2441	465	17	2		2	C8B	1	57425741	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3237	57425741	191824880	538	24040											
OMA1	115209	broad.mit.edu	37	chr1	59004856	59004856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacttgtacttgatgacaGccccgtgaggtggatgctaa	10	12	11	8	1	0	3	0	3	0	0	0	4	0	4	2	2	4	2	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59004856G>A	ENST00000371226.3	-	2	224	c.111C>T	c.(109-111)ggC>ggT	p.G37G	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000358603.2_Silent_p.G37G|OMA1_ENST00000467063.1_Intron	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	37					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					CTTGATGACAGCCCCGTGAGG	0.403													A	59004856	G	A	59004856	2	1	364	1	0	0	0	0	0	0	0	1	10940	958	34	2		2	OMA1	1	59004856	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1579115	59004856	190245765	539	24041											
MYSM1	114803	broad.mit.edu	37	chr1	59147880	59147880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttttcattttgaagaCagcccctggaagacttagaa	11	13	8	9	0	1	4	1	1	0	3	1	5	1	5	2	1	2	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:59147880C>T	ENST00000472487.1	-	8	875	c.836G>A	c.(835-837)tGt>tAt	p.C279Y	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	279					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					ATTTTGAAGACAGCCCCTGGA	0.358													T	59147880	C	T	59147880	3	4	364	1	0	0	0	0	1	0	0	0	10177	478	17	2	1702	2	MYSM1	1	59147880	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143024	59147880	190102741	540	24042											
HOOK1	51361	broad.mit.edu	37	chr1	60314120	60314120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtatatgcataatacaGtcagcttagaagaagaatta	17	12	8	4	0	1	4	1	1	0	3	1	4	1	4	0	0	3	3	0	0	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60314120G>A	ENST00000371208.3	+	11	1320	c.1063G>A	c.(1063-1065)Gtc>Atc	p.V355I	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Missense_Mutation_p.V313I	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	355	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					GCATAATACAGTCAGCTTAGA	0.328													A	60314120	G	A	60314120	3	1	364	1	0	0	0	0	1	0	0	0	7337	1029	36	2	1105	2	HOOK1	1	60314120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1166240	60314120	188936501	541	24043											
HOOK1	51361	broad.mit.edu	37	chr1	60324163	60324163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcgatgttcacaagtaCaacaggaccacctaaaccaa	16	7	6	12	1	1	0	1	0	0	0	2	2	1	1	3	1	4	3	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:60324163C>T	ENST00000371208.3	+	13	1563	c.1306C>T	c.(1306-1308)Caa>Taa	p.Q436*	HOOK1_ENST00000465876.1_3'UTR|HOOK1_ENST00000395561.2_Nonsense_Mutation_p.Q394*	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	436	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					TTCACAAGTACAACAGGACCA	0.343													T	60324163	C	T	60324163	4	4	364	1	0	0	0	0	0	1	0	0	7337	479	17	2	1356	2	HOOK1	1	60324163	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10043	60324163	188926458	542	24044											
NFIA	4774	broad.mit.edu	37	chr1	61848933	61848933	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccatctccaaccacactgaAgaagtcggagaagtctggtt	12	8	10	11	1	2	3	0	1	2	2	4	4	2	3	3	2	1	1	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:61848933A>C	ENST00000403491.3	+	7	1455	c.971A>C	c.(970-972)aAg>aCg	p.K324T	NFIA_ENST00000407417.3_Missense_Mutation_p.K316T|NFIA_ENST00000371191.1_Missense_Mutation_p.K347T|NFIA_ENST00000479364.1_3'UTR|NFIA_ENST00000371189.4_Missense_Mutation_p.K369T|NFIA_ENST00000371187.3_Missense_Mutation_p.K324T|NFIA_ENST00000371185.2_Missense_Mutation_p.K302T|NFIA_ENST00000371184.2_Missense_Mutation_p.K195T|NFIA_ENST00000485903.2_Intron	NM_001134673.3|NM_005595.4	NP_001128145.1|NP_005586.1	Q12857	NFIA_HUMAN	nuclear factor I/A	324					DNA replication|viral genome replication	cell junction|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding		NFIA/EHF(2)	endometrium(1)|kidney(2)|large_intestine(8)|lung(20)|pancreas(1)|prostate(1)|skin(1)	34						ACCACACTGAAGAAGTCGGAG	0.483													C	61848933	A	C	61848933	3	2	364	1	0	0	0	0	1	0	0	0	10446	72	3	5	1143	5	NFIA	1	61848933	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1524770	61848933	187401688	543	24045											
TM2D1	83941	broad.mit.edu	37	chr1	62190778	62190778	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagcagacggaccagacggCcaggcggccgccatcttgga	9	3	16	13	4	1	2	0	0	1	2	1	5	1	5	4	6	1	1	4	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62190778C>T	ENST00000371177.2	-	1	27	c.15G>A	c.(13-15)tgG>tgA	p.W5*	TM2D1_ENST00000371180.2_Nonsense_Mutation_p.W67*|TM2D1_ENST00000606498.1_Nonsense_Mutation_p.W5*|TM2D1_ENST00000294613.5_Nonsense_Mutation_p.W5*			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1	5					apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						GACCAGACGGCCAGGCGGCCG	0.652													T	62190778	C	T	62190778	4	4	364	1	0	0	0	0	0	1	0	0	16063	740	26	2	632	2	TM2D1	1	62190778	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341845	62190778	187059843	544	24046											
INADL	10207	broad.mit.edu	37	chr1	62262978	62262978	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgatggcgtgaacattcAgggttttgccaaccatgatg	9	11	13	8	2	1	2	1	2	0	0	2	3	1	2	2	3	3	1	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62262978A>G	ENST00000371158.2	+	11	1394	c.1280A>G	c.(1279-1281)cAg>cGg	p.Q427R	INADL_ENST00000316485.6_Missense_Mutation_p.Q427R	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	427	PDZ 3.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTGAACATTCAGGGTTTTGCC	0.408													G	62262978	A	G	62262978	3	3	364	1	0	0	0	0	1	0	0	0	7789	188	7	3	1318	3	INADL	1	62262978	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	72200	62262978	186987643	545	24047											
INADL	10207	broad.mit.edu	37	chr1	62293185	62293185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttactttggtttgctgtcGgaggttgtttgatgatgaag	6	19	13	3	1	0	3	0	3	0	0	1	4	0	4	0	3	2	4	0	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62293185G>A	ENST00000371158.2	+	16	2024	c.1910G>A	c.(1909-1911)cGg>cAg	p.R637Q	INADL_ENST00000316485.6_Missense_Mutation_p.R637Q	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	637	PDZ 4.				intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GTTTGCTGTCGGAGGTTGTTT	0.443													A	62293185	G	A	62293185	3	1	364	1	0	0	0	0	1	0	0	0	7789	1116	39	1	1968	1	INADL	1	62293185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30207	62293185	186957436	546	24048											
INADL	10207	broad.mit.edu	37	chr1	62330279	62330279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctattcccaggaggcacagCcgtatggctattgccctgaa	9	10	10	12	1	1	1	0	1	1	0	2	2	2	2	3	3	2	3	3	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62330279C>T	ENST00000371158.2	+	20	2923	c.2809C>T	c.(2809-2811)Ccg>Tcg	p.P937S	INADL_ENST00000316485.6_Missense_Mutation_p.P937S	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	937					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						GGAGGCACAGCCGTATGGCTA	0.483													T	62330279	C	T	62330279	3	4	364	1	0	0	0	0	1	0	0	0	7789	739	26	2	2883	2	INADL	1	62330279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37094	62330279	186920342	547	24049											
KANK4	163782	broad.mit.edu	37	chr1	62740589	62740589	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagtgctaaatttggcctGcttggcccttctgtggatag	7	13	12	9	0	1	1	0	0	1	1	1	2	1	2	2	3	2	2	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62740589G>A	ENST00000371153.4	-	3	565	c.187C>T	c.(187-189)Cag>Tag	p.Q63*	KANK4_ENST00000354381.3_Intron	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	63										NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						AATTTGGCCTGCTTGGCCCTT	0.542													A	62740589	G	A	62740589	4	1	364	1	0	0	0	0	0	1	0	0	8037	1328	46	2	2832	2	KANK4	1	62740589	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410310	62740589	186510032	548	24050											
DOCK7	85440	broad.mit.edu	37	chr1	62941476	62941477	+	Frame_Shift_Ins	INS	-	-	A																															aattgttcatgaagttccccINSatgggcacggccatctaaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62941476_62941477insA	ENST00000251157.5	-	45	5862_5863	c.5829_5830insT	c.(5827-5832)catgggfs	p.G1944fs	DOCK7_ENST00000340370.5_Frame_Shift_Ins_p.G1924fs|DOCK7_ENST00000489185.1_5'UTR	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1955	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						TGAAGTTCCCCATGGGCACGGC	0.391													A	62941477	-	A	62941476	7	5	364	1	0	1	1	0	0	0	0	0	4731	594	21	0	579	0	DOCK7	1	62941476	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	200887	62941476	186309145	549	24051											
DOCK7	85440	broad.mit.edu	37	chr1	62979117	62979117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgaagaaattctcaccaGgaggagaagctattgtgtac	15	10	10	6	0	1	3	1	1	1	2	2	5	1	4	1	2	2	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:62979117G>T	ENST00000340370.5	-	32	4204	c.4187C>A	c.(4186-4188)cCt>cAt	p.P1396H	DOCK7_ENST00000251157.5_Intron	NM_033407.2	NP_212132.2	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1427					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTCTCACCAGGAGGAGAAGC	0.413													T	62979117	G	T	62979117	3	4	364	1	0	0	0	0	1	0	0	0	4731	1000	35	4	2214	4	DOCK7	1	62979117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37641	62979117	186271504	550	24052											
DOCK7	85440	broad.mit.edu	37	chr1	63005469	63005469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcaatcgtgctgacaagaGctgcaatgtcatccatgaaa	14	9	9	9	1	1	3	1	2	0	1	3	3	2	3	1	0	4	4	1	0	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63005469G>T	ENST00000251157.5	-	26	3173	c.3140C>A	c.(3139-3141)gCt>gAt	p.A1047D	DOCK7_ENST00000340370.5_Missense_Mutation_p.A1016D	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1047					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCTGACAAGAGCTGCAATGTC	0.383													T	63005469	G	T	63005469	3	4	364	1	0	0	0	0	1	0	0	0	4731	971	34	4	3382	4	DOCK7	1	63005469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26352	63005469	186245152	551	24053											
DOCK7	85440	broad.mit.edu	37	chr1	63113847	63113847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttggtcatcattctgaCggtctatttcttcatttgga	6	19	7	9	1	6	1	3	1	3	0	7	2	7	2	1	3	0	0	1	3	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113847C>T	ENST00000251157.5	-	6	695	c.662G>A	c.(661-663)cGt>cAt	p.R221H	DOCK7_ENST00000340370.5_Missense_Mutation_p.R221H|DOCK7_ENST00000404627.2_Missense_Mutation_p.R221H	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	221					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATCATTCTGACGGTCTATTTC	0.388													T	63113847	C	T	63113847	3	4	364	1	0	0	0	0	1	0	0	0	4731	536	19	1	5843	1	DOCK7	1	63113847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108378	63113847	186136774	552	24054											
DOCK7	85440	broad.mit.edu	37	chr1	63113871	63113871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatttcttcatttggagttCgatcaagtaaattgggaagc	11	15	9	6	1	3	0	2	0	1	0	4	3	3	2	0	2	1	2	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63113871C>T	ENST00000251157.5	-	6	671	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	DOCK7_ENST00000340370.5_Missense_Mutation_p.R213Q|DOCK7_ENST00000404627.2_Missense_Mutation_p.R213Q	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	213					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						ATTTGGAGTTCGATCAAGTAA	0.403													T	63113871	C	T	63113871	3	4	364	1	0	0	0	0	1	0	0	0	4731	884	31	1	5867	1	DOCK7	1	63113871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24	63113871	186136750	553	24055											
DOCK7	85440	broad.mit.edu	37	chr1	63119776	63119776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaatccacagccaaaggatGagtaatgaggtaatcttcca	16	8	9	8	0	1	3	0	2	1	1	3	4	3	4	3	2	1	2	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63119776G>A	ENST00000251157.5	-	3	232	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	DOCK7_ENST00000340370.5_Missense_Mutation_p.H67Y|DOCK7_ENST00000404627.2_Missense_Mutation_p.H67Y	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	67					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						GCCAAAGGATGAGTAATGAGG	0.428													A	63119776	G	A	63119776	3	1	364	1	0	0	0	0	1	0	0	0	4731	1290	45	2	6318	2	DOCK7	1	63119776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5905	63119776	186130845	554	24056											
DOCK7	85440	broad.mit.edu	37	chr1	63128776	63128776	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actatattgtccggagatctGcttcctaacttcggctgcca	8	13	8	12	2	1	1	0	0	1	1	4	2	3	1	3	2	3	2	3	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63128776G>A	ENST00000251157.5	-	2	97	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	DOCK7_ENST00000340370.5_Nonsense_Mutation_p.Q22*|DOCK7_ENST00000404627.2_Nonsense_Mutation_p.Q22*	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	22					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CCGGAGATCTGCTTCCTAACT	0.368													A	63128776	G	A	63128776	4	1	364	1	0	0	0	0	0	1	0	0	4731	1328	46	2	6457	2	DOCK7	1	63128776	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9000	63128776	186121845	555	24057											
ALG6	29929	broad.mit.edu	37	chr1	63870168	63870168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgctctccatacatcacGtggatatgagagtcaggcac	11	10	10	10	1	3	1	2	1	1	1	4	4	3	2	1	2	2	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63870168G>A	ENST00000371108.4	+	5	607	c.302G>A	c.(301-303)cGt>cAt	p.R101H	ALG6_ENST00000263440.4_Missense_Mutation_p.R101H	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	101					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						CATACATCACGTGGATATGAG	0.348													A	63870168	G	A	63870168	3	1	364	1	0	0	0	0	1	0	0	0	522	1145	40	1	316	1	ALG6	1	63870168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	741392	63870168	185380453	556	24058											
ALG6	29929	broad.mit.edu	37	chr1	63872050	63872050	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtactgttgttgcttaaaaGaaatctcaactaagaaaaag	17	12	7	5	0	1	2	1	0	1	2	2	2	1	2	0	0	3	4	0	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:63872050G>T	ENST00000371108.4	+	6	714	c.409G>T	c.(409-411)Gaa>Taa	p.E137*	ALG6_ENST00000263440.4_Nonsense_Mutation_p.E137*	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	137					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TTGCTTAAAAGAAATCTCAAC	0.328													T	63872050	G	T	63872050	4	4	364	1	0	0	0	0	0	1	0	0	522	943	33	4	427	4	ALG6	1	63872050	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1882	63872050	185378571	557	24059											
EFCAB7	84455	broad.mit.edu	37	chr1	64011660	64011660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcattagtcatcagtacaGgatgcaaatagctcagaggt	15	10	9	7	0	4	1	4	0	0	1	4	2	4	2	0	2	3	3	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64011660G>T	ENST00000371088.4	+	7	1124	c.878G>T	c.(877-879)aGg>aTg	p.R293M		NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	293							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						CATCAGTACAGGATGCAAATA	0.328													T	64011660	G	T	64011660	3	4	364	1	0	0	0	0	1	0	0	0	4979	1000	35	4	900	4	EFCAB7	1	64011660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139610	64011660	185238961	558	24060											
EFCAB7	84455	broad.mit.edu	37	chr1	64027519	64027519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctacaataaagctctggaGttgacagaggtaaagtattc	14	10	11	6	0	1	2	0	1	1	1	2	3	1	3	0	3	2	5	0	3	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64027519G>T	ENST00000371088.4	+	11	1734	c.1488G>T	c.(1486-1488)gaG>gaT	p.E496D	EFCAB7_ENST00000461039.1_3'UTR	NM_032437.2	NP_115813.2	A8K855	EFCB7_HUMAN	EF-hand calcium binding domain 7	496							calcium ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19						AAGCTCTGGAGTTGACAGAGG	0.348													T	64027519	G	T	64027519	3	4	364	1	0	0	0	0	1	0	0	0	4979	1020	36	4	1526	4	EFCAB7	1	64027519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15859	64027519	185223102	559	24061											
ROR1	4919	broad.mit.edu	37	chr1	64605866	64605866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccattccttccctgtgcCactatgccttcccgtactgc	4	13	6	18	2	0	0	0	0	0	0	4	0	3	0	6	0	4	1	6	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64605866C>T	ENST00000371079.1	+	6	1060	c.685C>T	c.(685-687)Cac>Tac	p.H229Y	ROR1_ENST00000371080.1_Missense_Mutation_p.H229Y|ROR1_ENST00000482426.1_3'UTR|RP11-24J23.2_ENST00000424995.1_RNA|ROR1_ENST00000545203.1_5'UTR	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	229	FZ.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TTCCCTGTGCCACTATGCCTT	0.463													T	64605866	C	T	64605866	3	4	364	1	0	0	0	0	1	0	0	0	13617	594	21	2	707	2	ROR1	1	64605866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	578347	64605866	184644755	560	24062											
ROR1	4919	broad.mit.edu	37	chr1	64643957	64643957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttaaagatattcacgtcCggcttcggtcctgggaggga	9	11	13	8	3	1	1	1	0	0	1	4	4	3	3	2	4	0	1	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64643957C>T	ENST00000371079.1	+	9	2608	c.2233C>T	c.(2233-2235)Cgg>Tgg	p.R745W	ROR1_ENST00000545203.1_Missense_Mutation_p.R196W	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	745	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						TATTCACGTCCGGCTTCGGTC	0.522													T	64643957	C	T	64643957	3	4	364	1	0	0	0	0	1	0	0	0	13617	643	23	1	2275	1	ROR1	1	64643957	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38091	64643957	184606664	561	24063											
UBE2U	148581	broad.mit.edu	37	chr1	64671402	64671402	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaattcagtttggcaGggtttgtattttcaaaacca	12	14	8	7	0	2	1	2	0	0	1	2	1	2	1	1	2	2	4	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:64671402G>T	ENST00000371076.3	+	2	391	c.147G>T	c.(145-147)caG>caT	p.Q49H		NM_152489.1	NP_689702.1	Q5VVX9	UBE2U_HUMAN	ubiquitin-conjugating enzyme E2U (putative)	49							ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(3)|lung(2)|skin(1)	6						CAGTTTGGCAGGGTTTGTATT	0.313													T	64671402	G	T	64671402	5	4	364	1	0	0	0	0	0	0	1	0	16976	1014	35	4	153	4	UBE2U	1	64671402	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27445	64671402	184579219	562	24064											
CACHD1	57685	broad.mit.edu	37	chr1	65141176	65141176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtttgttggcattgtcaaCgaaacctgcgactctcttgc	7	13	10	11	3	2	0	1	0	1	0	3	2	2	0	1	1	4	3	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65141176C>T	ENST00000371073.2	+	20	2820	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	CACHD1_ENST00000495994.1_3'UTR|CACHD1_ENST00000290039.5_Silent_p.N889N			Q5VU97	CAHD1_HUMAN	cache domain containing 1	940					calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						GCATTGTCAACGAAACCTGCG	0.493											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65141176	C	T	65141176	2	4	364	1	0	0	0	0	0	0	0	1	2563	535	19	1		1	CACHD1	1	65141176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	469774	65141176	184109445	563	24065											
RAVER2	55225	broad.mit.edu	37	chr1	65234399	65234399	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttatgtggacagaaataaaCgaacaggtaagatttctatt	16	12	9	4	1	1	2	0	0	1	2	1	4	1	3	0	2	2	2	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65234399C>T	ENST00000294428.3	+	2	388	c.310C>T	c.(310-312)Cga>Tga	p.R104*	RAVER2_ENST00000371072.4_Nonsense_Mutation_p.R104*			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	104	RRM 1.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CAGAAATAAACGAACAGGTAA	0.299													T	65234399	C	T	65234399	4	4	364	1	0	0	0	0	0	1	0	0	13183	528	19	1	316	1	RAVER2	1	65234399	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93223	65234399	184016222	564	24066											
RAVER2	55225	broad.mit.edu	37	chr1	65296646	65296647	+	Frame_Shift_Ins	INS	-	-	A																															tattacatggaaacttacttINSaaaaaagaagcgagtatact																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65296646_65296647insA	ENST00000294428.3	+	12	2132_2133	c.2054_2055insA	c.(2053-2058)ttaaaafs	p.LK685fs	RAVER2_ENST00000371072.4_Frame_Shift_Ins_p.LK672fs|RAVER2_ENST00000430964.2_Frame_Shift_Ins_p.LK224fs			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	685						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						GAAACTTACTTAAAAAAGAAGC	0.446													A	65296647	-	A	65296646	7	5	364	1	0	1	1	0	0	0	0	0	13183	1764	61	0	2061	0	RAVER2	1	65296646	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	62247	65296646	183953975	565	24067											
JAK1	3716	broad.mit.edu	37	chr1	65305303	65305303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccgtcttctgtgcagattCctttgtacttcacaatgttc	7	17	6	11	1	3	1	1	0	2	1	5	1	4	1	2	0	3	3	2	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65305303C>A	ENST00000342505.4	-	20	3073	c.2825G>T	c.(2824-2826)gGa>gTa	p.G942V		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	942	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGTGCAGATTCCTTTGTACTT	0.453			Mis		ALL								A	65305303	C	A	65305303	3	1	364	1	0	0	0	0	1	0	0	0	7995	855	30	4	663	4	JAK1	1	65305303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8657	65305303	183945318	566	24068											
DNAJC6	9829	broad.mit.edu	37	chr1	65845091	65845091	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcccttaggtctcaGaatgcagttggcccattagg	7	12	11	11	0	1	1	1	0	1	1	3	1	2	1	2	3	2	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65845091G>T	ENST00000395325.3	+	5	536	c.379G>T	c.(379-381)Gaa>Taa	p.E127*	DNAJC6_ENST00000371069.4_Nonsense_Mutation_p.E184*|DNAJC6_ENST00000263441.7_Nonsense_Mutation_p.E114*	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	127	Phosphatase tensin-type.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						TTAGGTCTCAGAATGCAGTTG	0.453													T	65845091	G	T	65845091	4	4	364	1	0	0	0	0	0	1	0	0	4692	943	33	4	397	4	DNAJC6	1	65845091	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	539788	65845091	183405530	567	24069											
DNAJC6	9829	broad.mit.edu	37	chr1	65855119	65855119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccaggaacatcaagatacGctggccttaggaggtatgag	13	7	12	9	1	1	2	1	1	0	1	1	4	1	4	2	4	2	2	2	4	5	3	rs148673423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:65855119G>A	ENST00000395325.3	+	10	1360	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	DNAJC6_ENST00000371069.4_Silent_p.T458T|DNAJC6_ENST00000263441.7_Silent_p.T388T	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	401					cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding	p.T401T(1)		NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						ATCAAGATACGCTGGCCTTAG	0.413													A	65855119	G	A	65855119	2	1	364	1	0	0	0	0	0	0	0	1	4692	1074	38	1		1	DNAJC6	1	65855119	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10028	65855119	183395502	568	24070											
LEPR	3953	broad.mit.edu	37	chr1	66067541	66067541	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagatgtcaatatcaataTctcatgtgaaactgatgggt	15	13	8	5	0	3	3	3	2	1	1	4	3	3	3	0	1	1	0	0	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66067541T>G	ENST00000349533.6	+	10	1486	c.1301T>G	c.(1300-1302)aTc>aGc	p.I434S	LEPR_ENST00000406510.3_Intron|LEPR_ENST00000462765.1_3'UTR|LEPR_ENST00000371058.1_Missense_Mutation_p.I434S|LEPR_ENST00000344610.8_Missense_Mutation_p.I434S|LEPR_ENST00000371060.3_Missense_Mutation_p.I434S|LEPR_ENST00000371059.3_Missense_Mutation_p.I434S	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	434					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		AATATCAATATCTCATGTGAA	0.294													G	66067541	T	G	66067541	3	3	364	1	0	0	0	0	1	0	0	0	8787	1435	50	5	1331	5	LEPR	1	66067541	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	212422	66067541	183183080	569	24071											
PDE4B	5142	broad.mit.edu	37	chr1	66831427	66831427	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatcatcctggagtctcCaatcagtttctcatcaacac	10	13	6	12	0	5	1	4	1	2	0	8	2	6	2	2	1	1	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:66831427C>T	ENST00000423207.2	+	11	1802	c.1317C>T	c.(1315-1317)tcC>tcT	p.S439S	PDE4B_ENST00000371049.3_Silent_p.S454S|PDE4B_ENST00000480109.2_Silent_p.S221S|PDE4B_ENST00000371045.5_Silent_p.S282S|PDE4B_ENST00000329654.4_Silent_p.S454S	NM_001037340.1	NP_001032417.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	454					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CTGGAGTCTCCAATCAGTTTC	0.413													T	66831427	C	T	66831427	2	4	364	1	0	0	0	0	0	0	0	1	11716	581	21	2		2	PDE4B	1	66831427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	763886	66831427	182419194	570	24072											
SGIP1	84251	broad.mit.edu	37	chr1	67137651	67137651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagtggcaagacccaggcGttccacaccaactccagaac	14	4	9	14	1	0	3	0	0	0	3	2	3	2	3	4	2	2	2	4	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67137651G>A	ENST00000371037.4	+	11	610	c.533G>A	c.(532-534)cGt>cAt	p.R178H	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.R182H|AL139147.1_ENST00000502413.2_Intron|SGIP1_ENST00000371039.1_Missense_Mutation_p.R146H|SGIP1_ENST00000371036.3_Missense_Mutation_p.R145H|SGIP1_ENST00000371035.3_Missense_Mutation_p.R135H	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	178	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGACCCAGGCGTTCCACACCA	0.378													A	67137651	G	A	67137651	3	1	364	1	0	0	0	0	1	0	0	0	14299	1145	40	1	575	1	SGIP1	1	67137651	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	306224	67137651	182112970	571	24073											
SGIP1	84251	broad.mit.edu	37	chr1	67185056	67185056	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagcatttacagaaacagtCaatgcctatttcaaaggagc	15	9	8	9	0	2	1	2	0	0	1	2	2	2	2	1	1	5	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67185056C>T	ENST00000371037.4	+	19	1787	c.1710C>T	c.(1708-1710)gtC>gtT	p.V570V	SGIP1_ENST00000237247.6_Silent_p.V601V|SGIP1_ENST00000371039.1_Silent_p.V373V|SGIP1_ENST00000435165.2_Silent_p.V75V|SGIP1_ENST00000371036.3_Silent_p.V372V|SGIP1_ENST00000371035.3_Silent_p.V360V	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	570					positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						CAGAAACAGTCAATGCCTATT	0.458													T	67185056	C	T	67185056	2	4	364	1	0	0	0	0	0	0	0	1	14299	813	29	2		2	SGIP1	1	67185056	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47405	67185056	182065565	572	24074											
TCTEX1D1	200132	broad.mit.edu	37	chr1	67243109	67243109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctctcttcgctcttgCaaatgtctatgcagtttacc	6	18	5	12	1	5	0	0	0	5	0	7	0	5	0	1	0	3	4	1	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67243109C>T	ENST00000282670.2	+	5	640	c.512C>T	c.(511-513)gCa>gTa	p.A171V		NM_152665.2	NP_689878.2	Q8N7M0	TC1D1_HUMAN	Tctex1 domain containing 1	171										large_intestine(2)|lung(10)|skin(1)	13						TTCGCTCTTGCAAATGTCTAT	0.368													T	67243109	C	T	67243109	3	4	364	1	0	0	0	0	1	0	0	0	15819	710	25	2	526	2	TCTEX1D1	1	67243109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58053	67243109	182007512	573	24075											
WDR78	79819	broad.mit.edu	37	chr1	67299299	67299299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaaacacattccaggaGcctgtcgagatatcaaagct	16	7	8	10	1	1	1	1	0	0	1	3	3	2	2	2	1	4	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67299299G>T	ENST00000371026.3	-	13	2037	c.1982C>A	c.(1981-1983)gCt>gAt	p.A661D	WDR78_ENST00000431318.1_Missense_Mutation_p.A407D	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	661										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCCAGGAGCCTGTCGAGA	0.343													T	67299299	G	T	67299299	3	4	364	1	0	0	0	0	1	0	0	0	17430	971	34	4	584	4	WDR78	1	67299299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56190	67299299	181951322	574	24076											
WDR78	79819	broad.mit.edu	37	chr1	67340464	67340464	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaactgaaccatacatacGttactttctcagcttcttca	12	13	4	12	1	3	1	2	1	2	0	4	2	3	1	1	0	6	2	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67340464G>A	ENST00000371026.3	-	5	855	c.800C>T	c.(799-801)aCt>aTt	p.T267I	WDR78_ENST00000371023.3_Splice_Site_p.T267I|WDR78_ENST00000371022.3_Splice_Site_p.T267I|WDR78_ENST00000431318.1_Splice_Site_p.T13I	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	267										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CCATACATACGTTACTTTCTC	0.403													A	67340464	G	A	67340464	5	1	364	1	0	0	0	0	0	0	1	0	17430	1159	40	1	1855	1	WDR78	1	67340464	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41165	67340464	181910157	575	24077											
WDR78	79819	broad.mit.edu	37	chr1	67356837	67356837	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagtatattttcattacCtgtgaaactagtcaatcttt	14	16	4	7	0	3	1	2	1	1	0	3	1	3	1	1	0	3	1	1	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67356837C>A	ENST00000371026.3	-	4	698	c.643G>T	c.(643-645)Gat>Tat	p.D215Y	WDR78_ENST00000371023.3_Splice_Site_p.D215Y|WDR78_ENST00000371022.3_Splice_Site_p.D215Y|WDR78_ENST00000431318.1_5'UTR	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	215										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						TTTTCATTACCTGTGAAACTA	0.328													A	67356837	C	A	67356837	5	1	364	1	0	0	0	0	0	0	1	0	17430	695	24	4	2016	4	WDR78	1	67356837	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16373	67356837	181893784	576	24078											
MIER1	57708	broad.mit.edu	37	chr1	67411875	67411875	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgaatttgatccatcagCtgacatgctggttcatgatt	10	14	8	9	0	2	4	2	4	0	0	3	4	3	4	2	1	2	3	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67411875C>A	ENST00000357692.2	+	5	385	c.128C>A	c.(127-129)gCt>gAt	p.A43D	MIER1_ENST00000371014.1_Missense_Mutation_p.A79D|MIER1_ENST00000371012.2_Missense_Mutation_p.A43D|MIER1_ENST00000401042.3_Missense_Mutation_p.A26D|MIER1_ENST00000479067.1_3'UTR|MIER1_ENST00000355356.3_Missense_Mutation_p.A26D|MIER1_ENST00000355977.6_Intron|MIER1_ENST00000371018.3_Missense_Mutation_p.A43D|MIER1_ENST00000401041.1_Missense_Mutation_p.A79D|MIER1_ENST00000371016.1_Missense_Mutation_p.A43D	NM_001146110.1	NP_001139582.1	Q8N108	MIER1_HUMAN	mesoderm induction early response 1, transcriptional regulator	50					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(3)	15						GATCCATCAGCTGACATGCTG	0.353													A	67411875	C	A	67411875	3	1	364	1	0	0	0	0	1	0	0	0	9655	797	28	4	327	4	MIER1	1	67411875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55038	67411875	181838746	577	24079											
SLC35D1	23169	broad.mit.edu	37	chr1	67470071	67470071	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgttattagcctctgaCtgtttgctcagctgctcttc	5	17	8	11	0	3	1	1	1	2	0	4	1	3	1	1	0	5	6	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67470071C>T	ENST00000235345.5	-	12	1105	c.1020G>A	c.(1018-1020)caG>caA	p.Q340Q		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	340					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGCCTCTGACTGTTTGCTCA	0.448													T	67470071	C	T	67470071	2	4	364	1	0	0	0	0	0	0	0	1	14675	564	20	2		2	SLC35D1	1	67470071	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58196	67470071	181780550	578	24080											
SLC35D1	23169	broad.mit.edu	37	chr1	67474798	67474798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaatgaagtttgtccacGtgaaaatataatctccacca	16	10	5	10	1	1	2	0	2	1	0	3	2	2	2	4	0	1	1	4	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67474798G>A	ENST00000235345.5	-	11	1014	c.929C>T	c.(928-930)aCg>aTg	p.T310M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T231M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	310					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	GTTTGTCCACGTGAAAATATA	0.249													A	67474798	G	A	67474798	3	1	364	1	0	0	0	0	1	0	0	0	14675	1145	40	1	146	1	SLC35D1	1	67474798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4727	67474798	181775823	579	24081											
SLC35D1	23169	broad.mit.edu	37	chr1	67486098	67486098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagcagaattatactgcGtgcagagtactgtggcgtac	12	10	12	7	2	0	3	0	0	0	3	0	3	0	3	0	1	6	4	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67486098G>A	ENST00000235345.5	-	10	915	c.830C>T	c.(829-831)aCg>aTg	p.T277M	SLC35D1_ENST00000506472.2_Missense_Mutation_p.T198M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	277					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	ATTATACTGCGTGCAGAGTAC	0.333													A	67486098	G	A	67486098	3	1	364	1	0	0	0	0	1	0	0	0	14675	1145	40	1	249	1	SLC35D1	1	67486098	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11300	67486098	181764523	580	24082											
SLC35D1	23169	broad.mit.edu	37	chr1	67513002	67513002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgctgctgttaggacatcGtttatcagaataaaagcata	13	14	8	6	1	1	1	1	0	0	1	2	2	1	2	0	1	3	5	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67513002G>A	ENST00000235345.5	-	7	667	c.582C>T	c.(580-582)aaC>aaT	p.N194N	SLC35D1_ENST00000506472.2_Silent_p.N115N	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	194					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TTAGGACATCGTTTATCAGAA	0.338													A	67513002	G	A	67513002	2	1	364	1	0	0	0	0	0	0	0	1	14675	1136	40	1		1	SLC35D1	1	67513002	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26904	67513002	181737619	581	24083											
SLC35D1	23169	broad.mit.edu	37	chr1	67519552	67519552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaaggagctcacgccgtAaaagccggcggccagcagct	11	3	14	13	4	1	0	1	0	0	0	1	2	1	2	3	4	4	4	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67519552A>G	ENST00000235345.5	-	1	230	c.145T>C	c.(145-147)Tac>Cac	p.Y49H		NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	49					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	CTCACGCCGTAAAAGCCGGCG	0.647													G	67519552	A	G	67519552	3	3	364	1	0	0	0	0	1	0	0	0	14675	362	13	3	970	3	SLC35D1	1	67519552	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6550	67519552	181731069	582	24084											
IL23R	149233	broad.mit.edu	37	chr1	67633832	67633832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcactattcaatgggatgCagtaatagccctttacatac	12	12	8	9	0	2	0	2	0	0	0	2	1	2	1	1	2	4	2	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67633832C>T	ENST00000347310.5	+	2	200	c.29C>T	c.(28-30)gCa>gTa	p.A10V	IL23R_ENST00000371002.1_Missense_Mutation_p.A10V|C1orf141_ENST00000371007.2_Intron	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	10					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						CAATGGGATGCAGTAATAGCC	0.343													T	67633832	C	T	67633832	3	4	364	1	0	0	0	0	1	0	0	0	7734	710	25	2	31	2	IL23R	1	67633832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114280	67633832	181616789	583	24085											
IL23R	149233	broad.mit.edu	37	chr1	67724231	67724231	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatcccatgattacagagaTaaaagaaatcttcatcccag	16	10	6	9	0	2	4	1	2	1	2	4	5	4	4	2	0	1	0	2	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724231T>A	ENST00000347310.5	+	11	1481	c.1310T>A	c.(1309-1311)aTa>aAa	p.I437K	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.I182K	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	437					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						ATTACAGAGATAAAAGAAATC	0.388													A	67724231	T	A	67724231	3	1	364	1	0	0	0	0	1	0	0	0	7734	1406	49	5	1348	5	IL23R	1	67724231	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	90399	67724231	181526390	584	24086											
IL23R	149233	broad.mit.edu	37	chr1	67724629	67724629	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacaaaactcagtagaggagGaaaccaccatgcttttggaa	16	8	9	8	0	1	1	1	0	0	1	1	4	1	4	2	3	4	2	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724629G>T	ENST00000347310.5	+	11	1879	c.1708G>T	c.(1708-1710)Gaa>Taa	p.E570*	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Nonsense_Mutation_p.E315*	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	570					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						AGTAGAGGAGGAAACCACCAT	0.398													T	67724629	G	T	67724629	4	4	364	1	0	0	0	0	0	1	0	0	7734	1175	41	4	1746	4	IL23R	1	67724629	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	398	67724629	181525992	585	24087											
IL23R	149233	broad.mit.edu	37	chr1	67724722	67724722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctcctgtttggggatcGtgaatgaggagttgccatct	6	15	13	7	1	2	2	0	2	2	0	4	4	2	4	2	3	1	2	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67724722G>A	ENST00000347310.5	+	11	1972	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	IL23R_ENST00000473881.1_3'UTR|IL23R_ENST00000371002.1_3'UTR|IL23R_ENST00000395227.1_Missense_Mutation_p.V346M	NM_144701.2	NP_653302.2	Q5VWK5	IL23R_HUMAN	interleukin 23 receptor	601					inflammatory response|negative regulation of interleukin-10 production|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of interleukin-12 production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|response to interferon-gamma|response to lipopolysaccharide	interleukin-23 receptor complex	receptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	21						TTTGGGGATCGTGAATGAGGA	0.403													A	67724722	G	A	67724722	3	1	364	1	0	0	0	0	1	0	0	0	7734	1145	40	1	1839	1	IL23R	1	67724722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93	67724722	181525899	586	24088											
IL12RB2	3595	broad.mit.edu	37	chr1	67786068	67786068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgatggcacatacttttaGaggatgctcattggcattta	10	15	10	6	0	1	2	1	1	0	1	1	3	1	3	0	3	2	4	0	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:67786068G>A	ENST00000262345.1	+	2	657	c.17G>A	c.(16-18)aGa>aAa	p.R6K	IL12RB2_ENST00000541374.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000371000.1_Missense_Mutation_p.R6K|IL12RB2_ENST00000544434.1_Missense_Mutation_p.R6K	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	6					positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						CATACTTTTAGAGGATGCTCA	0.328													A	67786068	G	A	67786068	3	1	364	1	0	0	0	0	1	0	0	0	7685	942	33	2	19	2	IL12RB2	1	67786068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61346	67786068	181464553	587	24089											
DEPDC1	55635	broad.mit.edu	37	chr1	68943596	68943596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactcctgagcactaatCtgcttacagtatgagtaagt	13	12	7	9	0	2	2	1	2	1	0	3	2	3	2	1	0	4	4	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68943596C>A	ENST00000456315.2	-	11	2286	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.Q440H	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	724					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		GAGCACTAATCTGCTTACAGT	0.348													A	68943596	C	A	68943596	3	1	364	1	0	0	0	0	1	0	0	0	4478	912	32	4	271	4	DEPDC1	1	68943596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1157528	68943596	180307025	588	24090											
DEPDC1	55635	broad.mit.edu	37	chr1	68948463	68948463	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagactgagaagaaggcacTcagttgatttgaaggaattc	14	9	12	6	0	1	5	1	3	0	3	2	7	1	6	0	2	0	3	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:68948463T>C	ENST00000456315.2	-	8	1142	c.1028A>G	c.(1027-1029)gAg>gGg	p.E343G	DEPDC1_ENST00000370966.5_Intron|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	343					intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGAAGGCACTCAGTTGATTT	0.348													C	68948463	T	C	68948463	3	2	364	1	0	0	0	0	1	0	0	0	4478	1551	54	3	1427	3	DEPDC1	1	68948463	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4867	68948463	180302158	589	24091											
LRRC7	57554	broad.mit.edu	37	chr1	70555435	70555435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagaatagaaaagaatcCtggccttggatttagtatca	14	12	10	5	0	1	3	1	1	0	3	2	5	2	4	2	2	0	1	2	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70555435C>A	ENST00000310961.5	+	25	4656	c.4238C>A	c.(4237-4239)cCt>cAt	p.P1413H	LRRC7_ENST00000415775.2_Missense_Mutation_p.P739H|LRRC7_ENST00000035383.5_Missense_Mutation_p.P1455H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1455						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						GAAAAGAATCCTGGCCTTGGA	0.294													A	70555435	C	A	70555435	3	1	364	1	0	0	0	0	1	0	0	0	9090	681	24	4	4454	4	LRRC7	1	70555435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1606972	70555435	178695186	590	24092											
LRRC40	55631	broad.mit.edu	37	chr1	70614326	70614326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttcaagtgtgaagataCgatatagaacttcaggtagc	13	13	10	5	1	2	3	2	1	0	2	2	4	2	3	0	1	3	2	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70614326C>T	ENST00000370952.3	-	14	1626	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	516								p.R516H(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TGTGAAGATACGATATAGAAC	0.338													T	70614326	C	T	70614326	3	4	364	1	0	0	0	0	1	0	0	0	9068	536	19	1	269	1	LRRC40	1	70614326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58891	70614326	178636295	591	24093											
ANKRD13C	81573	broad.mit.edu	37	chr1	70736577	70736577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggaggaagcttcatctgaAcaaattctctaagcttgtta	12	13	8	8	0	3	1	1	1	2	0	4	3	3	3	0	2	3	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70736577A>G	ENST00000370944.4	-	12	1770	c.1457T>C	c.(1456-1458)gTt>gCt	p.V486A	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.V451A|ANKRD13C_ENST00000464236.1_5'UTR	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	486					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						CTTCATCTGAACAAATTCTCT	0.308													G	70736577	A	G	70736577	3	3	364	1	0	0	0	0	1	0	0	0	643	43	2	3	176	3	ANKRD13C	1	70736577	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	122251	70736577	178514044	592	24094											
ANKRD13C	81573	broad.mit.edu	37	chr1	70758150	70758150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgaagaatatcctcttcaCtgagatgttctcttcttttc	8	18	5	10	1	4	2	1	1	3	2	8	4	5	2	1	0	0	1	1	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70758150C>A	ENST00000370944.4	-	9	1449	c.1136G>T	c.(1135-1137)aGt>aTt	p.S379I	ANKRD13C_ENST00000262346.6_Missense_Mutation_p.S344I	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	379					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						ATCCTCTTCACTGAGATGTTC	0.333													A	70758150	C	A	70758150	3	1	364	1	0	0	0	0	1	0	0	0	643	565	20	4	509	4	ANKRD13C	1	70758150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21573	70758150	178492471	593	24095											
CTH	1491	broad.mit.edu	37	chr1	70883695	70883695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaggagaccaaattatttGtatggatgatgtgtatggag	13	12	13	3	0	0	2	0	1	0	1	0	5	0	4	1	3	1	3	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:70883695G>A	ENST00000370938.3	+	3	470	c.326G>A	c.(325-327)tGt>tAt	p.C109Y	CTH_ENST00000346806.2_Missense_Mutation_p.C109Y|CTH_ENST00000464926.1_Intron|CTH_ENST00000411986.2_Intron	NM_001902.5	NP_001893.2	P32929	CGL_HUMAN	cystathionase (cystathionine gamma-lyase)	109					cysteine biosynthetic process|hydrogen sulfide biosynthetic process|protein homotetramerization|protein-pyridoxal-5-phosphate linkage via peptidyl-N6-pyridoxal phosphate-L-lysine	cytoplasm|nucleus	cystathionine gamma-lyase activity|L-cysteine desulfhydrase activity|pyridoxal phosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	18					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CAAATTATTTGTATGGATGAT	0.333													A	70883695	G	A	70883695	3	1	364	1	0	0	0	0	1	0	0	0	4042	1377	48	2	336	2	CTH	1	70883695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125545	70883695	178366926	594	24096											
PTGER3	5733	broad.mit.edu	37	chr1	71512530	71512530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttgcaggaaaaggtgActgtcagcgccaagagcccc	11	5	13	12	1	1	2	1	1	0	1	1	3	1	3	4	3	3	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512530A>G	ENST00000370924.4	-	1	961	c.731T>C	c.(730-732)gTc>gCc	p.V244A	PTGER3_ENST00000370931.3_Missense_Mutation_p.V244A|PTGER3_ENST00000306666.5_Missense_Mutation_p.V244A|PTGER3_ENST00000356595.4_Missense_Mutation_p.V244A|PTGER3_ENST00000351052.5_Missense_Mutation_p.V244A|PTGER3_ENST00000370932.2_Missense_Mutation_p.V244A|PTGER3_ENST00000354608.5_Missense_Mutation_p.V244A|PTGER3_ENST00000414819.1_Missense_Mutation_p.V244A|PTGER3_ENST00000460330.1_Missense_Mutation_p.V244A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	244					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	GGAAAAGGTGACTGTCAGCGC	0.637													G	71512530	A	G	71512530	3	3	364	1	0	0	0	0	1	0	0	0	12830	275	10	3	760	3	PTGER3	1	71512530	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	628835	71512530	177738091	595	24097											
PTGER3	5733	broad.mit.edu	37	chr1	71512568	71512568	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaaggcaaaggcagaGgcgaagaaaaggttgcccca	15	2	14	10	1	0	2	0	0	0	2	0	4	0	3	3	5	1	3	3	5	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71512568G>T	ENST00000370924.4	-	1	923	c.693C>A	c.(691-693)gcC>gcA	p.A231A	PTGER3_ENST00000370931.3_Silent_p.A231A|PTGER3_ENST00000306666.5_Silent_p.A231A|PTGER3_ENST00000356595.4_Silent_p.A231A|PTGER3_ENST00000351052.5_Silent_p.A231A|PTGER3_ENST00000370932.2_Silent_p.A231A|PTGER3_ENST00000354608.5_Silent_p.A231A|PTGER3_ENST00000414819.1_Silent_p.A231A|PTGER3_ENST00000460330.1_Silent_p.A231A	NM_198715.2	NP_942008.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	231					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	CAAAGGCAGAGGCGAAGAAAA	0.627													T	71512568	G	T	71512568	2	4	364	1	0	0	0	0	0	0	0	1	12830	987	35	4		4	PTGER3	1	71512568	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38	71512568	177738053	596	24098											
ZRANB2	9406	broad.mit.edu	37	chr1	71534977	71534977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgatttcgacccacgaGatctcgaacgttctctggaa	10	11	8	12	4	2	2	0	1	2	1	5	6	2	3	2	1	1	1	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:71534977G>T	ENST00000370920.3	-	8	1053	c.752C>A	c.(751-753)tCt>tAt	p.S251Y	ZRANB2_ENST00000254821.6_Missense_Mutation_p.S251Y	NM_203350.2	NP_976225.1	O95218	ZRAB2_HUMAN	zinc finger, RAN-binding domain containing 2	251	Arg/Ser-rich.|Required for nuclear targeting.				mRNA processing|RNA splicing	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S251C(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|stomach(1)	15						CGACCCACGAGATCTCGAACG	0.433													T	71534977	G	T	71534977	3	4	364	1	0	0	0	0	1	0	0	0	18322	942	33	4	290	4	ZRANB2	1	71534977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22409	71534977	177715644	597	24099											
NEGR1	257194	broad.mit.edu	37	chr1	72241855	72241855	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgcattcctactttacCtgatggggagatgtgtcgcc	8	13	10	10	1	0	2	0	1	0	1	2	3	1	2	3	2	3	1	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:72241855C>A	ENST00000357731.5	-	3	774	c.535G>T	c.(535-537)Gca>Tca	p.A179S	NEGR1_ENST00000467479.1_5'UTR|NEGR1_ENST00000306821.3_Splice_Site_p.A51S|NEGR1_ENST00000434200.1_Splice_Site_p.V177F	NM_173808.2	NP_776169.2	Q7Z3B1	NEGR1_HUMAN	neuronal growth regulator 1		Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane				endometrium(1)|kidney(4)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(4;1.26e-06)|Renal(4;1.32e-08)|all_epithelial(4;5.39e-07)|Hepatocellular(141;0.117)		KIRC - Kidney renal clear cell carcinoma(4;0.00529)|Kidney(4;0.00609)|all cancers(265;0.022)|GBM - Glioblastoma multiforme(62;0.0382)|Epithelial(280;0.242)		CCTACTTTACCTGATGGGGAG	0.408													A	72241855	C	A	72241855	5	1	364	1	0	0	0	0	0	0	1	0	10393	695	24	4	549	4	NEGR1	1	72241855	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706878	72241855	177008766	598	24100											
TNNI3K	51086	broad.mit.edu	37	chr1	74957842	74957842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcttcttcttctgattGcctggtgaaccggggaggac	6	13	11	11	1	4	2	0	2	4	0	4	4	4	4	3	4	2	0	3	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:74957842G>A	ENST00000370891.2	+	25	2562	c.2546G>A	c.(2545-2547)tGc>tAc	p.C849Y	TNNI3K_ENST00000326637.3_Missense_Mutation_p.C748Y|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.C862Y|LRRC53_ENST00000294635.4_Intron	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						TCTTCTGATTGCCTGGTGAAC	0.478													A	74957842	G	A	74957842	3	1	364	1	0	0	0	0	1	0	0	0	16429	1319	46	2	2688	2	TNNI3K	1	74957842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2715987	74957842	174292779	599	24101											
C1orf173	127254	broad.mit.edu	37	chr1	75039011	75039011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcttctccccacagtgctgCctccccttttccctgtacta	4	14	5	18	0	1	0	0	0	1	0	4	0	3	0	6	0	4	3	6	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039011C>T	ENST00000326665.5	-	14	2601	c.2383G>A	c.(2383-2385)Gca>Aca	p.A795T	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	795	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CACAGTGCTGCCTCCCCTTTT	0.507													T	75039011	C	T	75039011	3	4	364	1	0	0	0	0	1	0	0	0	2034	739	26	2	2213	2	C1orf173	1	75039011	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81169	75039011	174211610	600	24102											
C1orf173	127254	broad.mit.edu	37	chr1	75039105	75039105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagtgtatacgttttttgCaccaattgctgggattcctt	7	17	8	9	1	0	0	0	0	0	0	2	1	2	1	3	1	3	4	3	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75039105C>T	ENST00000326665.5	-	14	2507	c.2289G>A	c.(2287-2289)gtG>gtA	p.V763V	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	763	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ACGTTTTTTGCACCAATTGCT	0.423													T	75039105	C	T	75039105	2	4	364	1	0	0	0	0	0	0	0	1	2034	697	25	2		2	C1orf173	1	75039105	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94	75039105	174211516	601	24103											
TYW3	127253	broad.mit.edu	37	chr1	75229674	75229675	+	Frame_Shift_Ins	INS	-	-	A																															actcatcatatattcataagINSaaaaaaagaaacccagaaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75229674_75229675insA	ENST00000370867.3	+	6	746_747	c.657_658insA	c.(658-660)aaafs	p.K220fs	TYW3_ENST00000421739.2_Frame_Shift_Ins_p.K136fs|TYW3_ENST00000457880.2_Frame_Shift_Ins_p.K187fs|TYW3_ENST00000479111.1_Frame_Shift_Ins_p.K100fs|TYW3_ENST00000467646.1_3'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	220					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						ATATTCATAAGAAAAAAAGAAA	0.342													A	75229675	-	A	75229674	7	5	364	1	0	1	1	0	0	0	0	0	16922	933	33	0	679	0	TYW3	1	75229674	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	190569	75229674	174020947	602	24104											
LHX8	431707	broad.mit.edu	37	chr1	75622580	75622580	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttctccctgctcaggtGtggtttcagaattgtagagc	6	15	11	9	0	3	2	2	0	1	2	4	2	3	2	1	2	2	4	1	2	2	5	rs79714503	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75622580G>A	ENST00000294638.5	+	9	1477	c.813G>A	c.(811-813)gtG>gtA	p.V271V	LHX8_ENST00000356261.3_Silent_p.V261V	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	271						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CTGCTCAGGTGTGGTTTCAGA	0.483													A	75622580	G	A	75622580	2	1	364	1	0	0	0	0	0	0	0	1	8836	1364	48	2		2	LHX8	1	75622580	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	392906	75622580	173628041	603	24105											
SLC44A5	204962	broad.mit.edu	37	chr1	75699770	75699770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccaactaaggaccatggCaatcgtcaggccactagaaa	15	7	8	11	1	1	1	1	0	0	1	3	2	2	2	3	3	1	1	3	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:75699770C>T	ENST00000370855.5	-	12	867	c.754G>A	c.(754-756)Gcc>Acc	p.A252T	SLC44A5_ENST00000535611.1_Missense_Mutation_p.A122T|SLC44A5_ENST00000370859.3_Missense_Mutation_p.A252T	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	252						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						AGGACCATGGCAATCGTCAGG	0.388													T	75699770	C	T	75699770	3	4	364	1	0	0	0	0	1	0	0	0	14733	710	25	2	1568	2	SLC44A5	1	75699770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77190	75699770	173550851	604	24106											
ACADM	34	broad.mit.edu	37	chr1	76205769	76205769	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attaatggtcagaagatgtgGataaccaacggaggaaaagc	17	7	12	5	1	1	2	1	0	0	2	1	5	1	5	1	4	3	0	1	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76205769G>A	ENST00000370841.4	+	7	1010	c.573G>A	c.(571-573)tgG>tgA	p.W191*	ACADM_ENST00000543667.1_Nonsense_Mutation_p.W2*|ACADM_ENST00000420607.2_Nonsense_Mutation_p.W195*|ACADM_ENST00000370834.5_Nonsense_Mutation_p.W224*|ACADM_ENST00000541113.1_Nonsense_Mutation_p.W155*	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	191					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						AGAAGATGTGGATAACCAACG	0.333													A	76205769	G	A	76205769	4	1	364	1	0	0	0	0	0	1	0	0	113	1183	41	2	611	2	ACADM	1	76205769	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505999	76205769	173044852	605	24107											
ACADM	34	broad.mit.edu	37	chr1	76211522	76211522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcacgttctgatccagatCctaaagctcctgctaataaa	12	11	7	11	1	1	2	0	1	1	1	4	2	4	2	3	1	2	4	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76211522C>T	ENST00000370841.4	+	8	1068	c.631C>T	c.(631-633)Cct>Tct	p.P211S	ACADM_ENST00000543667.1_Missense_Mutation_p.P22S|ACADM_ENST00000420607.2_Missense_Mutation_p.P215S|ACADM_ENST00000370834.5_Missense_Mutation_p.P244S|ACADM_ENST00000541113.1_Missense_Mutation_p.P175S	NM_000016.4|NM_001127328.1	NP_000007.1|NP_001120800.1	P11310	ACADM_HUMAN	acyl-CoA dehydrogenase, C-4 to C-12 straight chain	211					carnitine biosynthetic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|medium-chain fatty acid catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|identical protein binding|medium-chain-acyl-CoA dehydrogenase activity			breast(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	18						TGATCCAGATCCTAAAGCTCC	0.378													T	76211522	C	T	76211522	3	4	364	1	0	0	0	0	1	0	0	0	113	855	30	2	673	2	ACADM	1	76211522	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5753	76211522	173039099	606	24108											
MSH4	4438	broad.mit.edu	37	chr1	76280818	76280818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtcctaatggaggttcagtCcaagtaagttatatatttat	12	16	8	5	0	1	0	1	0	0	0	3	1	3	1	2	2	0	3	2	2	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76280818C>T	ENST00000263187.3	+	5	916	c.812C>T	c.(811-813)tCc>tTc	p.S271F		NM_002440.3	NP_002431.2	O15457	MSH4_HUMAN	mutS homolog 4	271					chiasma assembly|homologous chromosome segregation|mismatch repair|reciprocal meiotic recombination	synaptonemal complex	ATP binding|DNA-dependent ATPase activity|mismatched DNA binding			breast(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(26)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	47						GAGGTTCAGTCCAAGTAAGtt	0.313								Mismatch excision repair (MMR)					T	76280818	C	T	76280818	3	4	364	1	0	0	0	0	1	0	0	0	9948	855	30	2	830	2	MSH4	1	76280818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69296	76280818	172969803	607	24109											
ASB17	127247	broad.mit.edu	37	chr1	76397592	76397592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacctccatatcagtgccaGgttacaacttctgtcttgaa	10	14	6	11	0	3	1	1	1	2	0	4	1	4	1	3	1	4	1	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76397592G>A	ENST00000284142.6	-	1	524	c.385C>T	c.(385-387)Ctg>Ttg	p.L129L		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	129					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						ATCAGTGCCAGGTTACAACTT	0.338													A	76397592	G	A	76397592	2	1	364	1	0	0	0	0	0	0	0	1	1026	991	35	2		2	ASB17	1	76397592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116774	76397592	172853029	608	24110											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	76877904	76877905	+	Frame_Shift_Ins	INS	-	-	T																															ttgctaaaaaaccctgattaINSttttttcaaggaagcgaata																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:76877904_76877905insT	ENST00000328299.3	+	3	573_574	c.425_426insT	c.(424-429)tattttfs	p.YF142fs	ST6GALNAC3_ENST00000464140.1_3'UTR	NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	142					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						AACCCTGATTATTTTTTCAAGG	0.411													T	76877905	-	T	76877904	7	5	364	1	0	1	1	0	0	0	0	0	15321	449	16	0	435	0	ST6GALNAC3	1	76877904	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	480312	76877904	172372717	609	24111											
AK5	26289	broad.mit.edu	37	chr1	77759556	77759556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattctccatagaaagtgAcacggatctctctgagactg	12	11	8	10	1	4	3	1	2	3	2	6	5	4	4	1	1	0	0	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77759556A>G	ENST00000344720.5	+	3	1274	c.248A>G	c.(247-249)gAc>gGc	p.D83G	AK5_ENST00000354567.2_Missense_Mutation_p.D109G|AK5_ENST00000317704.4_3'UTR	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	109					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						ATAGAAAGTGACACGGATCTC	0.423													G	77759556	A	G	77759556	3	3	364	1	0	0	0	0	1	0	0	0	443	275	10	3	336	3	AK5	1	77759556	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	881652	77759556	171491065	610	24112											
AK5	26289	broad.mit.edu	37	chr1	77984313	77984313	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatatggatttacacaTctctcaactggcgagctcct	13	11	7	10	1	2	0	1	0	1	0	4	3	3	1	1	2	3	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:77984313T>G	ENST00000344720.5	+	11	2160	c.1134T>G	c.(1132-1134)caT>caG	p.H378Q	AK5_ENST00000354567.2_Missense_Mutation_p.H404Q	NM_012093.3	NP_036225.2	Q9Y6K8	KAD5_HUMAN	adenylate kinase 5	404					ADP biosynthetic process|ATP metabolic process|dADP biosynthetic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine ribonucleotide biosynthetic process|signal transduction	centrosome|cytosol	adenylate kinase activity|ATP binding|cAMP-dependent protein kinase regulator activity|nucleoside kinase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|prostate(1)|skin(2)|stomach(1)	40						GATTTACACATCTCTCAACTG	0.473													G	77984313	T	G	77984313	3	3	364	1	0	0	0	0	1	0	0	0	443	1432	50	5	1254	5	AK5	1	77984313	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	224757	77984313	171266308	611	24113											
ZZZ3	26009	broad.mit.edu	37	chr1	78041867	78041867	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggaaggcttaaagagAtgcttattaagagggtgctg	14	10	14	3	0	0	2	0	0	0	2	0	4	0	3	0	3	2	3	0	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78041867A>G	ENST00000370801.3	-	12	2692	c.2217T>C	c.(2215-2217)caT>caC	p.H739H	ZZZ3_ENST00000370798.1_Silent_p.H245H|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						GCTTAAAGAGATGCTTATTAA	0.363													G	78041867	A	G	78041867	2	3	364	1	0	0	0	0	0	0	0	1	18353	330	12	3		3	ZZZ3	1	78041867	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57554	78041867	171208754	612	24114											
ZZZ3	26009	broad.mit.edu	37	chr1	78045282	78045282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattctacttcttcaggaGggtatttgatgagtagctgt	9	15	12	5	0	3	3	1	2	2	1	3	5	3	4	0	2	2	3	0	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78045282G>T	ENST00000370801.3	-	10	2487	c.2012C>A	c.(2011-2013)cCt>cAt	p.P671H	ZZZ3_ENST00000370798.1_Missense_Mutation_p.P177H|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	671	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAGGAGGGTATTTGAT	0.373													T	78045282	G	T	78045282	3	4	364	1	0	0	0	0	1	0	0	0	18353	1000	35	4	723	4	ZZZ3	1	78045282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3415	78045282	171205339	613	24115											
ZZZ3	26009	broad.mit.edu	37	chr1	78046696	78046696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattacctgttcttcaacaGtccacaactggttaaatgtt	11	16	5	9	0	2	0	1	0	1	0	3	0	3	0	2	1	3	3	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78046696G>A	ENST00000370801.3	-	9	2442	c.1967C>T	c.(1966-1968)aCt>aTt	p.T656I	ZZZ3_ENST00000370798.1_Missense_Mutation_p.T162I|ZZZ3_ENST00000476275.1_5'UTR	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	656	HTH myb-type.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TTCTTCAACAGTCCACAACTG	0.373													A	78046696	G	A	78046696	3	1	364	1	0	0	0	0	1	0	0	0	18353	1029	36	2	772	2	ZZZ3	1	78046696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1414	78046696	171203925	614	24116											
ZZZ3	26009	broad.mit.edu	37	chr1	78098585	78098585	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaaatctgcatcattgTccactactgtactcctctgt	9	15	5	12	0	3	1	1	1	2	0	5	1	5	1	2	0	3	2	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78098585T>A	ENST00000370801.3	-	5	930	c.455A>T	c.(454-456)gAc>gTc	p.D152V	ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						TGCATCATTGTCCACTACTGT	0.388													A	78098585	T	A	78098585	3	1	364	1	0	0	0	0	1	0	0	0	18353	1667	58	5	2300	5	ZZZ3	1	78098585	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51889	78098585	171152036	615	24117											
USP33	23032	broad.mit.edu	37	chr1	78180376	78180376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaatttattaagccactgtCgagaaatataaaactgaagg	18	11	7	5	1	0	2	0	1	0	1	1	3	0	2	1	1	2	0	1	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78180376C>T	ENST00000370793.1	-	20	2577	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	USP33_ENST00000370794.3_Missense_Mutation_p.R713Q|USP33_ENST00000370792.3_Missense_Mutation_p.R736Q|USP33_ENST00000357428.1_Missense_Mutation_p.R744Q	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	744	DUSP 1.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						AAGCCACTGTCGAGAAATATA	0.373													T	78180376	C	T	78180376	3	4	364	1	0	0	0	0	1	0	0	0	17166	884	31	1	633	1	USP33	1	78180376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81791	78180376	171070245	616	24118											
USP33	23032	broad.mit.edu	37	chr1	78183609	78183609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatatgtcacaatttgagCtggactatccttagcaagaa	14	12	7	8	0	2	2	2	1	0	1	3	3	3	3	1	1	2	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78183609C>A	ENST00000370793.1	-	18	2300	c.1954G>T	c.(1954-1956)Gct>Tct	p.A652S	USP33_ENST00000370794.3_Missense_Mutation_p.A621S|USP33_ENST00000370792.3_Missense_Mutation_p.A644S|USP33_ENST00000357428.1_Missense_Mutation_p.A652S	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	652					axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						ACAATTTGAGCTGGACTATCC	0.363													A	78183609	C	A	78183609	3	1	364	1	0	0	0	0	1	0	0	0	17166	797	28	4	918	4	USP33	1	78183609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3233	78183609	171067012	617	24119											
FAM73A	374986	broad.mit.edu	37	chr1	78272689	78272689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaattcttgtcatagctgCgcttgtggcaattctaattc	8	16	8	9	1	4	0	2	0	2	0	5	0	4	0	0	1	2	3	0	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78272689C>T	ENST00000370791.3	+	5	572	c.540C>T	c.(538-540)tgC>tgT	p.C180C	FAM73A_ENST00000443751.2_Silent_p.C142C	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	180						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		GTCATAGCTGCGCTTGTGGCA	0.348													T	78272689	C	T	78272689	2	4	364	1	0	0	0	0	0	0	0	1	5667	776	27	1		1	FAM73A	1	78272689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89080	78272689	170977932	618	24120											
FAM73A	374986	broad.mit.edu	37	chr1	78309003	78309003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttaagataaagatacaGatatcaccatgaagggtaat	18	11	7	5	0	1	4	1	1	0	3	1	4	1	4	1	1	1	1	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78309003G>T	ENST00000370791.3	+	8	939	c.907G>T	c.(907-909)Gat>Tat	p.D303Y	FAM73A_ENST00000443751.2_Missense_Mutation_p.D265Y	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	303						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		TAAAGATACAGATATCACCAT	0.403													T	78309003	G	T	78309003	3	4	364	1	0	0	0	0	1	0	0	0	5667	942	33	4	937	4	FAM73A	1	78309003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36314	78309003	170941618	619	24121											
FAM73A	374986	broad.mit.edu	37	chr1	78324657	78324657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtacggcatacctacaGcctggagtccctttgtcact	10	10	9	12	1	1	1	1	0	0	1	2	2	2	2	3	2	4	2	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78324657G>T	ENST00000370791.3	+	9	1063	c.1031G>T	c.(1030-1032)aGc>aTc	p.S344I	FAM73A_ENST00000443751.2_Missense_Mutation_p.S306I	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	344						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		CATACCTACAGCCTGGAGTCC	0.458													T	78324657	G	T	78324657	3	4	364	1	0	0	0	0	1	0	0	0	5667	971	34	4	1065	4	FAM73A	1	78324657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15654	78324657	170925964	620	24122											
NEXN	91624	broad.mit.edu	37	chr1	78383379	78383379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcaaaggagatctagagaCgaaaaacaaagaagaaaaga	25	3	9	4	1	2	5	1	0	1	5	2	8	2	5	0	1	1	0	0	1	9	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78383379C>T	ENST00000334785.7	+	3	340	c.156C>T	c.(154-156)gaC>gaT	p.D52D	NEXN_ENST00000330010.8_Intron|NEXN_ENST00000294624.8_Silent_p.D52D|NEXN_ENST00000457030.1_Silent_p.D52D	NM_144573.3	NP_653174.3	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)	52	Glu-rich.				regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		GATCTAGAGACGAAAAACAAA	0.353													T	78383379	C	T	78383379	2	4	364	1	0	0	0	0	0	0	0	1	10431	535	19	1		1	NEXN	1	78383379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58722	78383379	170867242	621	24123											
NEXN	91624	broad.mit.edu	37	chr1	78392297	78392297	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtgtctttcattagttatgGtaaatttttgtttgtttgtt	7	24	8	2	0	2	0	1	0	1	0	2	0	2	0	0	1	0	5	0	1	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78392297G>A	ENST00000330010.8	+	6	792		c.e6+1		NEXN_ENST00000334785.7_Splice_Site|NEXN_ENST00000457030.1_Splice_Site	NM_001172309.1	NP_001165780.1	Q0ZGT2	NEXN_HUMAN	nexilin (F actin binding protein)						regulation of cell migration|regulation of cytoskeleton organization	cytoskeleton|Z disc	actin filament binding|structural constituent of muscle			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				Colorectal(170;0.114)		ATTAGTTATGGTAAATTTTTG	0.323													A	78392297	G	A	78392297	5	1	364	1	0	0	0	0	0	0	1	0	10431	1275	44	2	710	2	NEXN	1	78392297	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8918	78392297	170858324	622	24124											
FUBP1	8880	broad.mit.edu	37	chr1	78430754	78430754	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaaaaataacaataccTgaagctgtttaatagtttct	16	14	4	7	0	2	1	1	1	1	0	2	1	2	1	1	0	3	3	1	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78430754T>G	ENST00000370767.1	-	8	722	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	FUBP1_ENST00000436586.2_Splice_Site_p.Q233P|FUBP1_ENST00000370768.2_Splice_Site_p.Q212P			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	212	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACAATACCTGAAGCTGTTT	0.363			"F, N"		oligodendroglioma								G	78430754	T	G	78430754	5	3	364	1	0	0	0	0	0	0	1	0	6144	1594	55	5	1351	5	FUBP1	1	78430754	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38457	78430754	170819867	623	24125											
FUBP1	8880	broad.mit.edu	37	chr1	78433850	78433850	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaaaaggaatacttacaGtcattttgaggagcaacttt	14	14	8	5	0	1	1	1	1	0	0	1	3	1	3	0	2	4	2	0	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78433850G>A	ENST00000370767.1	-	3	336	c.249C>T	c.(247-249)gaC>gaT	p.D83D	FUBP1_ENST00000436586.2_Splice_Site_p.D104D|FUBP1_ENST00000370768.2_Splice_Site_p.D83D			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATACTTACAGTCATTTTGAG	0.318			"F, N"		oligodendroglioma								A	78433850	G	A	78433850	5	1	364	1	0	0	0	0	0	0	1	0	6144	1043	36	2	1757	2	FUBP1	1	78433850	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3096	78433850	170816771	624	24126											
PTGFR	5737	broad.mit.edu	37	chr1	78958518	78958519	+	Frame_Shift_Ins	INS	-	-	T																															cggaaaaccggctttccgtaINStttttttcagtaatcttcat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958518_78958519insT	ENST00000370756.3	+	2	327_328	c.90_91insT	c.(91-93)tttfs	p.F31fs	PTGFR_ENST00000370758.1_Frame_Shift_Ins_p.F31fs|PTGFR_ENST00000370757.3_Frame_Shift_Ins_p.F31fs	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	31					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGCTTTCCGTATTTTTTTCAGT	0.45													T	78958519	-	T	78958518	7	5	364	1	0	1	1	0	0	0	0	0	12835	436	16	0	92	0	PTGFR	1	78958518	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	524668	78958518	170292103	625	24127											
PTGFR	5737	broad.mit.edu	37	chr1	78958573	78958573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaacagccttgccatcGccattctcatgaaggcatat	11	11	7	12	1	2	1	2	1	1	0	4	1	2	1	3	1	3	1	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958573G>A	ENST00000370756.3	+	2	382	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	PTGFR_ENST00000370757.3_Missense_Mutation_p.A49T|PTGFR_ENST00000370758.1_Missense_Mutation_p.A49T	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	49					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CCTTGCCATCGCCATTCTCAT	0.448													A	78958573	G	A	78958573	3	1	364	1	0	0	0	0	1	0	0	0	12835	1087	38	1	147	1	PTGFR	1	78958573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55	78958573	170292048	626	24128											
PTGFR	5737	broad.mit.edu	37	chr1	78958942	78958942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagctttgctgcccatcCttggacatcgagactataaa	11	12	7	11	1	1	1	1	0	0	1	3	3	2	2	2	1	3	2	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:78958942C>A	ENST00000370756.3	+	2	751	c.514C>A	c.(514-516)Ctt>Att	p.L172I	PTGFR_ENST00000370757.3_Missense_Mutation_p.L172I|PTGFR_ENST00000370758.1_Missense_Mutation_p.L172I	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	172					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GCTGCCCATCCTTGGACATCG	0.373													A	78958942	C	A	78958942	3	1	364	1	0	0	0	0	1	0	0	0	12835	681	24	4	516	4	PTGFR	1	78958942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	369	78958942	170291679	627	24129											
PTGFR	5737	broad.mit.edu	37	chr1	79002278	79002278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggagtgcatgtcatcaGcttacatatttgggagctta	9	14	11	7	0	2	0	2	0	0	0	2	2	2	2	0	2	4	3	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002278G>T	ENST00000370757.3	+	3	1223	c.986G>T	c.(985-987)aGc>aTc	p.S329I	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.S329I	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	329					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	CATGTCATCAGCTTACATATT	0.388													T	79002278	G	T	79002278	3	4	364	1	0	0	0	0	1	0	0	0	12835	971	34	4	1067	4	PTGFR	1	79002278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43336	79002278	170248343	628	24130											
PTGFR	5737	broad.mit.edu	37	chr1	79002308	79002308	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgggagcttagttccattaAaaattccttaaaggttgctg	11	15	9	6	0	0	0	0	0	0	0	2	1	2	1	2	2	2	4	2	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79002308A>C	ENST00000370757.3	+	3	1253	c.1016A>C	c.(1015-1017)aAa>aCa	p.K339T	PTGFR_ENST00000370756.3_3'UTR|PTGFR_ENST00000370758.1_Missense_Mutation_p.K339T	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	339					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	AGTTCCATTAAAAATTCCTTA	0.418													C	79002308	A	C	79002308	3	2	364	1	0	0	0	0	1	0	0	0	12835	14	1	5	1097	5	PTGFR	1	79002308	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30	79002308	170248313	629	24131											
IFI44	10561	broad.mit.edu	37	chr1	79116271	79116272	+	Frame_Shift_Ins	INS	-	-	A																															tatggacttaaagacaatggINSaaaatcttggacttgctcaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79116271_79116272insA	ENST00000370747.4	+	2	476_477	c.391_392insA	c.(391-393)gaafs	p.E131fs	IFI44_ENST00000545124.1_Intron|IFI44_ENST00000495254.1_Intron	NM_006417.4	NP_006408.3	Q8TCB0	IFI44_HUMAN	interferon-induced protein 44	131					response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						AAAGACAATGGAAAATCTTGGA	0.327													A	79116272	-	A	79116271	7	5	364	1	0	1	1	0	0	0	0	0	7575	1175	41	0	393	0	IFI44	1	79116271	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	113963	79116271	170134350	630	24132											
IFI44	10561	broad.mit.edu	37	chr1	79121166	79121166	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatgacatattctatatCttgaacggtaacattcgtga	13	13	9	6	2	2	3	0	3	2	0	3	4	2	4	0	2	2	1	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:79121166C>A	ENST00000545124.1	+	0	427				IFI44_ENST00000495254.1_3'UTR|IFI44_ENST00000370747.4_Silent_p.I270I			Q8TCB0	IFI44_HUMAN	interferon-induced protein 44						response to virus	cytoplasm				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21						TATTCTATATCTTGAACGGTA	0.388													A	79121166	C	A	79121166	1	1	364	1	0	0	0	0	0	0	0	0	7575	903	32	4		4	IFI44	1	79121166	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4895	79121166	170129455	631	24133											
LPHN2	23266	broad.mit.edu	37	chr1	82417649	82417649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttttttcagatcagaagCggagaaaatgctgctagtct	11	14	10	6	1	3	3	2	0	1	3	3	4	3	3	0	1	3	3	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82417649C>T	ENST00000370728.1	+	11	2250	c.1605C>T	c.(1603-1605)agC>agT	p.S535S	LPHN2_ENST00000370725.1_Silent_p.S535S|LPHN2_ENST00000370717.2_Silent_p.S535S|LPHN2_ENST00000370723.1_Silent_p.S535S|LPHN2_ENST00000394879.1_Silent_p.S535S|LPHN2_ENST00000359929.3_Silent_p.S535S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.S535S|LPHN2_ENST00000271029.4_Silent_p.S535S|LPHN2_ENST00000319517.6_Silent_p.S535S|LPHN2_ENST00000370727.1_Silent_p.S535S|LPHN2_ENST00000370730.1_Silent_p.S535S|LPHN2_ENST00000370713.1_Silent_p.S535S|LPHN2_ENST00000335786.5_Silent_p.S535S|LPHN2_ENST00000370721.1_Silent_p.S473S			O95490	LPHN2_HUMAN	latrophilin 2	535					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGATCAGAAGCGGAGAAAATG	0.363													T	82417649	C	T	82417649	2	4	364	1	0	0	0	0	0	0	0	1	8986	767	27	1		1	LPHN2	1	82417649	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3296483	82417649	166832972	632	24134											
LPHN2	23266	broad.mit.edu	37	chr1	82421735	82421735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagggtctcaatgcccacaGaaaatattggtaagtgaatc	15	9	9	8	0	1	2	1	1	1	1	3	2	1	2	1	2	1	1	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82421735G>A	ENST00000370728.1	+	13	2641	c.1996G>A	c.(1996-1998)Gaa>Aaa	p.E666K	LPHN2_ENST00000370725.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370717.2_Missense_Mutation_p.E666K|LPHN2_ENST00000370723.1_Missense_Mutation_p.E653K|LPHN2_ENST00000394879.1_Missense_Mutation_p.E653K|LPHN2_ENST00000359929.3_Missense_Mutation_p.E653K|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.E653K|LPHN2_ENST00000271029.4_Missense_Mutation_p.E666K|LPHN2_ENST00000319517.6_Missense_Mutation_p.E653K|LPHN2_ENST00000370727.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370730.1_Missense_Mutation_p.E666K|LPHN2_ENST00000370713.1_Missense_Mutation_p.E653K|LPHN2_ENST00000335786.5_Missense_Mutation_p.E666K|LPHN2_ENST00000370721.1_Missense_Mutation_p.E591K			O95490	LPHN2_HUMAN	latrophilin 2	666					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AATGCCCACAGAAAATATTGG	0.358													A	82421735	G	A	82421735	3	1	364	1	0	0	0	0	1	0	0	0	8986	943	33	2	1987	2	LPHN2	1	82421735	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4086	82421735	166828886	633	24135											
LPHN2	23266	broad.mit.edu	37	chr1	82432123	82432123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatcatttaccggagcCtgggacagttccttagtaca	9	13	9	10	1	2	0	2	0	0	0	3	2	3	2	3	2	3	3	3	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82432123C>A	ENST00000370728.1	+	15	2812	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	LPHN2_ENST00000370725.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370717.2_Missense_Mutation_p.L723M|LPHN2_ENST00000370723.1_Missense_Mutation_p.L710M|LPHN2_ENST00000394879.1_Missense_Mutation_p.L710M|LPHN2_ENST00000359929.3_Missense_Mutation_p.L710M|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.L710M|LPHN2_ENST00000271029.4_Missense_Mutation_p.L723M|LPHN2_ENST00000319517.6_Missense_Mutation_p.L710M|LPHN2_ENST00000370727.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370730.1_Missense_Mutation_p.L723M|LPHN2_ENST00000370713.1_Missense_Mutation_p.L710M|LPHN2_ENST00000335786.5_Missense_Mutation_p.L723M|LPHN2_ENST00000370721.1_Missense_Mutation_p.L648M			O95490	LPHN2_HUMAN	latrophilin 2	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TTACCGGAGCCTGGGACAGTT	0.378													A	82432123	C	A	82432123	3	1	364	1	0	0	0	0	1	0	0	0	8986	680	24	4	2166	4	LPHN2	1	82432123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10388	82432123	166818498	634	24136											
LPHN2	23266	broad.mit.edu	37	chr1	82436143	82436143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaaaatattactatgttgCtggttacttgtttcctgcca	11	16	7	7	0	0	0	0	0	0	0	1	1	1	0	2	1	4	4	2	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82436143C>T	ENST00000370728.1	+	18	3512	c.2867C>T	c.(2866-2868)gCt>gTt	p.A956V	LPHN2_ENST00000370725.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370717.2_Missense_Mutation_p.A956V|LPHN2_ENST00000370723.1_Missense_Mutation_p.A943V|LPHN2_ENST00000394879.1_Missense_Mutation_p.A943V|LPHN2_ENST00000359929.3_Missense_Mutation_p.A943V|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Missense_Mutation_p.A943V|LPHN2_ENST00000271029.4_Missense_Mutation_p.A956V|LPHN2_ENST00000319517.6_Missense_Mutation_p.A943V|LPHN2_ENST00000370727.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370730.1_Missense_Mutation_p.A956V|LPHN2_ENST00000370713.1_Missense_Mutation_p.A943V|LPHN2_ENST00000335786.5_Missense_Mutation_p.A956V|LPHN2_ENST00000370721.1_Missense_Mutation_p.A881V			O95490	LPHN2_HUMAN	latrophilin 2	956					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TACTATGTTGCTGGTTACTTG	0.398													T	82436143	C	T	82436143	3	4	364	1	0	0	0	0	1	0	0	0	8986	797	28	2	2878	2	LPHN2	1	82436143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4020	82436143	166814478	635	24137											
LPHN2	23266	broad.mit.edu	37	chr1	82451005	82451005	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatcttcttttatctcAggtgacatcaatagcacttc	11	15	5	10	0	5	2	3	1	3	1	7	2	5	2	0	1	1	1	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82451005A>G	ENST00000370728.1	+	23	4107	c.3462A>G	c.(3460-3462)tcA>tcG	p.S1154S	LPHN2_ENST00000370725.1_Silent_p.S1169S|LPHN2_ENST00000370717.2_Silent_p.S1169S|LPHN2_ENST00000370723.1_Silent_p.S1156S|LPHN2_ENST00000394879.1_Silent_p.S1156S|LPHN2_ENST00000359929.3_Silent_p.S1141S|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Silent_p.S1141S|LPHN2_ENST00000271029.4_Silent_p.S1169S|LPHN2_ENST00000319517.6_Silent_p.S1141S|LPHN2_ENST00000370727.1_Silent_p.S1169S|LPHN2_ENST00000370730.1_Silent_p.S1154S|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Silent_p.S1154S|LPHN2_ENST00000370721.1_Silent_p.S1079S			O95490	LPHN2_HUMAN	latrophilin 2	1154					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CTTTTATCTCAGGTGACATCA	0.294													G	82451005	A	G	82451005	2	3	364	1	0	0	0	0	0	0	0	1	8986	175	7	3		3	LPHN2	1	82451005	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14862	82451005	166799616	636	24138											
LPHN2	23266	broad.mit.edu	37	chr1	82452652	82452652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactaacaacccctataaCacattgctcgctgaaacagt	14	8	6	13	1	0	1	0	1	0	0	1	1	0	1	2	1	5	3	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:82452652C>T	ENST00000370728.1	+	24	4209	c.3564C>T	c.(3562-3564)aaC>aaT	p.N1188N	LPHN2_ENST00000370725.1_Silent_p.N1203N|LPHN2_ENST00000370717.2_Silent_p.N1203N|LPHN2_ENST00000370723.1_Silent_p.N1190N|LPHN2_ENST00000394879.1_Silent_p.N1190N|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000271029.4_Intron|LPHN2_ENST00000319517.6_Intron|LPHN2_ENST00000370727.1_Intron|LPHN2_ENST00000370730.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000335786.5_Intron|LPHN2_ENST00000370721.1_Silent_p.N1113N			O95490	LPHN2_HUMAN	latrophilin 2	1188					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACCCCTATAACACATTGCTCG	0.388													T	82452652	C	T	82452652	2	4	364	1	0	0	0	0	0	0	0	1	8986	493	17	2		2	LPHN2	1	82452652	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1647	82452652	166797969	637	24139											
TTLL7	79739	broad.mit.edu	37	chr1	84356049	84356049	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttggccacgactccagAgtaagcgattaaaaacccgg	12	6	10	13	3	0	1	0	0	0	1	1	3	1	1	4	2	2	1	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84356049A>G	ENST00000260505.8	-	19	2701	c.2324T>C	c.(2323-2325)cTc>cCc	p.L775P	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	775					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		ACGACTCCAGAGTAAGCGATT	0.373													G	84356049	A	G	84356049	3	3	364	1	0	0	0	0	1	0	0	0	16834	304	11	3	351	3	TTLL7	1	84356049	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1903397	84356049	164894572	638	24140											
TTLL7	79739	broad.mit.edu	37	chr1	84417649	84417649	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatccaggggagagggTccctgaataactttaaaaaa	16	9	9	7	0	1	2	1	1	0	1	3	3	3	2	2	3	1	0	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84417649T>C	ENST00000260505.8	-	3	413	c.36A>G	c.(34-36)ggA>ggG	p.G12G	TTLL7_ENST00000477524.1_5'UTR	NM_024686.4	NP_078962.4	Q6ZT98	TTLL7_HUMAN	tubulin tyrosine ligase-like family, member 7	12					cell differentiation|nervous system development|protein modification process	cilium|dendrite|microtubule basal body|perikaryon	tubulin-tyrosine ligase activity			kidney(1)|large_intestine(8)|lung(15)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29				all cancers(265;0.0126)|Epithelial(280;0.0372)|OV - Ovarian serous cystadenocarcinoma(397;0.16)		GGGGAGAGGGTCCCTGAATAA	0.363													C	84417649	T	C	84417649	2	2	364	1	0	0	0	0	0	0	0	1	16834	1654	58	3		3	TTLL7	1	84417649	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61600	84417649	164832972	639	24141											
PRKACB	5567	broad.mit.edu	37	chr1	84668410	84668410	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcattaggagtgctaatCtatgaaatggcagctggcta	11	11	13	6	0	1	1	0	1	1	0	1	2	1	2	0	4	2	5	0	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:84668410C>A	ENST00000370689.2	+	8	951	c.687C>A	c.(685-687)atC>atA	p.I229I	PRKACB_ENST00000394839.2_Silent_p.I199I|PRKACB_ENST00000370688.3_Silent_p.I229I|PRKACB_ENST00000370682.3_Silent_p.I233I|PRKACB_ENST00000370685.3_Silent_p.I276I|PRKACB_ENST00000394838.2_Silent_p.I236I|PRKACB_ENST00000370680.1_Silent_p.I235I	NM_001242862.1|NM_002731.2	NP_001229791.1|NP_002722.1	P22694	KAPCB_HUMAN	protein kinase, cAMP-dependent, catalytic, beta	229	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|gluconeogenesis|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|regulation of insulin secretion|synaptic transmission|transmembrane transport|triglyceride catabolic process|water transport	cAMP-dependent protein kinase complex|centrosome|cytosol|nucleoplasm|plasma membrane	ATP binding|cAMP-dependent protein kinase activity|magnesium ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|lung(11)|ovary(1)	16				all cancers(265;0.00536)|Epithelial(280;0.0161)|OV - Ovarian serous cystadenocarcinoma(397;0.141)		GAGTGCTAATCTATGAAATGG	0.368													A	84668410	C	A	84668410	2	1	364	1	0	0	0	0	0	0	0	1	12584	903	32	4		4	PRKACB	1	84668410	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250761	84668410	164582211	640	24142											
SSX2IP	117178	broad.mit.edu	37	chr1	85135531	85135531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctttgtctctttacCtttggattcttcatataatg	6	21	4	10	0	5	0	1	0	4	0	7	1	5	1	1	1	1	0	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85135531C>A	ENST00000437941.2	-	3	530	c.178G>T	c.(178-180)Ggt>Tgt	p.G60C	SSX2IP_ENST00000605755.1_Missense_Mutation_p.G60C|SSX2IP_ENST00000370612.4_Missense_Mutation_p.G87C|SSX2IP_ENST00000342203.3_Missense_Mutation_p.G87C|SSX2IP_ENST00000603677.1_Intron	NM_001166295.1|NM_001166417.1	NP_001159767.1|NP_001159889.1	Q9Y2D8	ADIP_HUMAN	synovial sarcoma, X breakpoint 2 interacting protein	87					cell adhesion	nucleus|protein complex				endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|urinary_tract(1)	19				all cancers(265;0.0053)|Epithelial(280;0.0214)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GTCTCTTTACCTTTGGATTCT	0.363													A	85135531	C	A	85135531	3	1	364	1	0	0	0	0	1	0	0	0	15300	681	24	4	1629	4	SSX2IP	1	85135531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	467121	85135531	164115090	641	24143											
LPAR3	23566	broad.mit.edu	37	chr1	85331180	85331180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcttgacgtacacgtagatCcgcaggtacaccacaaccat	12	8	7	14	3	1	2	0	1	1	1	2	2	2	2	3	1	3	4	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85331180C>T	ENST00000440886.1	-	1	662	c.624G>A	c.(622-624)cgG>cgA	p.R208R	LPAR3_ENST00000370611.3_Silent_p.R208R|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	208					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						ACACGTAGATCCGCAGGTACA	0.532													T	85331180	C	T	85331180	2	4	364	1	0	0	0	0	0	0	0	1	8976	842	30	2		2	LPAR3	1	85331180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195649	85331180	163919441	642	24144											
MCOLN2	255231	broad.mit.edu	37	chr1	85405352	85405352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggtgtcacacacaggccGcttgtacttctccaggaaga	9	9	11	12	2	2	1	1	0	1	1	4	2	2	2	2	3	1	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85405352G>A	ENST00000370608.3	-	9	1061	c.994C>T	c.(994-996)Cgg>Tgg	p.R332W	MCOLN2_ENST00000284027.5_Missense_Mutation_p.R304W|MCOLN2_ENST00000531325.1_5'UTR	NM_153259.2	NP_694991.2	Q8IZK6	MCLN2_HUMAN	mucolipin 2	332						integral to membrane	ion channel activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	18				all cancers(265;0.0111)|Epithelial(280;0.0263)|OV - Ovarian serous cystadenocarcinoma(397;0.217)		CACACAGGCCGCTTGTACTTC	0.438													A	85405352	G	A	85405352	3	1	364	1	0	0	0	0	1	0	0	0	9471	1086	38	1	730	1	MCOLN2	1	85405352	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74172	85405352	163845269	643	24145											
WDR63	126820	broad.mit.edu	37	chr1	85547045	85547045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagacatttttgaggacCtgcgcaacagagctgcagta	14	8	11	8	1	0	4	0	1	0	3	0	5	0	5	1	1	4	4	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85547045C>A	ENST00000294664.6	+	4	412	c.232C>A	c.(232-234)Ctg>Atg	p.L78M	WDR63_ENST00000326813.8_Missense_Mutation_p.L78M|WDR63_ENST00000370596.1_Missense_Mutation_p.L78M	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	78										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTTGAGGACCTGCGCAACAG	0.383													A	85547045	C	A	85547045	3	1	364	1	0	0	0	0	1	0	0	0	17416	680	24	4	242	4	WDR63	1	85547045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141693	85547045	163703576	644	24146											
WDR63	126820	broad.mit.edu	37	chr1	85559185	85559185	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaatcatgaacacatttaTtgatgactggaaatacctcg	15	12	7	7	1	1	4	1	4	0	0	2	5	1	5	1	1	2	0	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85559185T>G	ENST00000294664.6	+	9	1082	c.902T>G	c.(901-903)aTt>aGt	p.I301S	WDR63_ENST00000326813.8_Missense_Mutation_p.I262S|WDR63_ENST00000370596.1_Missense_Mutation_p.I262S	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	301										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACACATTTATTGATGACTGG	0.373													G	85559185	T	G	85559185	3	3	364	1	0	0	0	0	1	0	0	0	17416	1493	52	5	932	5	WDR63	1	85559185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12140	85559185	163691436	645	24147											
WDR63	126820	broad.mit.edu	37	chr1	85589885	85589885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctttctacaacgacattaTtctcacggttggaggttgga	10	13	9	9	2	2	0	1	0	2	0	3	3	2	2	1	4	2	2	1	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85589885T>C	ENST00000294664.6	+	19	2243	c.2063T>C	c.(2062-2064)aTt>aCt	p.I688T	WDR63_ENST00000326813.8_Missense_Mutation_p.I649T|WDR63_ENST00000370596.1_Missense_Mutation_p.I649T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	688										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AACGACATTATTCTCACGGTT	0.443													C	85589885	T	C	85589885	3	2	364	1	0	0	0	0	1	0	0	0	17416	1493	52	3	2133	3	WDR63	1	85589885	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30700	85589885	163660736	646	24148											
WDR63	126820	broad.mit.edu	37	chr1	85592238	85592238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaccaaaaaggtacacCtcaggccactggtccctgac	11	7	9	14	0	1	1	1	1	0	0	2	1	2	1	4	3	2	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85592238C>A	ENST00000294664.6	+	20	2337	c.2157C>A	c.(2155-2157)acC>acA	p.T719T	WDR63_ENST00000326813.8_Silent_p.T680T|WDR63_ENST00000370596.1_Silent_p.T680T	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	719										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		AAAGGTACACCTCAGGCCACT	0.443													A	85592238	C	A	85592238	2	1	364	1	0	0	0	0	0	0	0	1	17416	668	24	4		4	WDR63	1	85592238	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2353	85592238	163658383	647	24149											
SYDE2	84144	broad.mit.edu	37	chr1	85648578	85648578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tataacattcctcttagcagCggtggttgtgttcccagagg	8	13	11	9	1	1	1	0	0	1	1	3	1	3	1	2	3	3	3	2	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85648578C>T	ENST00000341460.5	-	3	1796	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	583					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		CTCTTAGCAGCGGTGGTTGTG	0.403													T	85648578	C	T	85648578	3	4	364	1	0	0	0	0	1	0	0	0	15533	768	27	1	1857	1	SYDE2	1	85648578	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56340	85648578	163602043	648	24150											
C1orf52	148423	broad.mit.edu	37	chr1	85724362	85724362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgtaggtctcaggaGgtggtacataatttgacttc	9	13	13	6	0	1	1	1	1	1	0	3	2	1	2	0	5	1	2	0	5	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85724362G>A	ENST00000471115.1	-	2	328	c.320C>T	c.(319-321)cCt>cTt	p.P107L	C1orf52_ENST00000344356.5_Missense_Mutation_p.P107L|C1orf52_ENST00000294661.4_5'UTR	NM_198077.3	NP_932343.1	Q8N6N3	CA052_HUMAN	chromosome 1 open reading frame 52	107										endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)	10				all cancers(265;0.0105)|Epithelial(280;0.0293)		GGTCTCAGGAGGTGGTACATA	0.453													A	85724362	G	A	85724362	3	1	364	1	0	0	0	0	1	0	0	0	2065	1000	35	2	236	2	C1orf52	1	85724362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75784	85724362	163526259	649	24151											
DDAH1	23576	broad.mit.edu	37	chr1	85790441	85790441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctttgcactttctggataCtcttccggggttcggtgcag	5	14	11	11	2	2	0	0	0	2	0	4	1	3	1	2	4	3	3	2	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85790441C>A	ENST00000284031.8	-	5	817	c.723G>T	c.(721-723)gaG>gaT	p.E241D	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.E138D|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Missense_Mutation_p.E141D|DDAH1_ENST00000426972.3_Missense_Mutation_p.E148D|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.E241D	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	241					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	TTTCTGGATACTCTTCCGGGG	0.473													A	85790441	C	A	85790441	3	1	364	1	0	0	0	0	1	0	0	0	4355	564	20	4	142	4	DDAH1	1	85790441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66079	85790441	163460180	650	24152											
DDAH1	23576	broad.mit.edu	37	chr1	85816136	85816136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattcactagacccaattgCgatcaggttaggcccagcca	12	8	9	12	1	2	2	2	0	0	2	2	3	2	2	3	2	2	1	3	2	3	4	rs147415500	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:85816136C>T	ENST00000284031.8	-	4	653	c.559G>A	c.(559-561)Gca>Aca	p.A187T	RP11-131L23.1_ENST00000427819.1_RNA|DDAH1_ENST00000535924.2_Missense_Mutation_p.A84T|DDAH1_ENST00000483110.1_5'UTR|DDAH1_ENST00000542148.1_Missense_Mutation_p.A87T|DDAH1_ENST00000426972.3_Missense_Mutation_p.A94T|RP11-131L23.1_ENST00000426125.1_RNA|DDAH1_ENST00000539042.1_Missense_Mutation_p.A187T	NM_012137.3	NP_036269.1	O94760	DDAH1_HUMAN	dimethylarginine dimethylaminohydrolase 1	187					arginine catabolic process|citrulline metabolic process|nitric oxide mediated signal transduction		dimethylargininase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|skin(1)	5				all cancers(265;0.0318)|Epithelial(280;0.0657)	L-Citrulline(DB00155)	GACCCAATTGCGATCAGGTTA	0.483													T	85816136	C	T	85816136	3	4	364	1	0	0	0	0	1	0	0	0	4355	768	27	1	310	1	DDAH1	1	85816136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25695	85816136	163434485	651	24153											
ZNHIT6	54680	broad.mit.edu	37	chr1	86172138	86172138	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatacctgcaggaatatcGcatacaacgtggacatctgt	12	11	9	9	2	1	0	0	0	1	0	2	2	1	2	1	2	4	3	1	2	6	4	rs140637481		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86172138G>A	ENST00000431532.2	-	3	740	c.592C>T	c.(592-594)Cga>Tga	p.R198*	ZNHIT6_ENST00000370574.3_Nonsense_Mutation_p.R237*	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	237	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						CAGGAATATCGCATACAACGT	0.348													A	86172138	G	A	86172138	4	1	364	1	0	0	0	0	0	1	0	0	18308	1095	38	1	739	1	ZNHIT6	1	86172138	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	356002	86172138	163078483	652	24154											
ZNHIT6	54680	broad.mit.edu	37	chr1	86173468	86173468	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttatgcattgaccaacaAacttctcctcctgttttatc	9	17	3	12	0	1	1	0	1	1	0	4	1	2	1	3	0	3	2	3	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173468A>G	ENST00000431532.2	-	2	531	c.383T>C	c.(382-384)tTt>tCt	p.F128S	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.F167S	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	167	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						TTGACCAACAAACTTCTCCTC	0.398													G	86173468	A	G	86173468	3	3	364	1	0	0	0	0	1	0	0	0	18308	14	1	3	952	3	ZNHIT6	1	86173468	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1330	86173468	163077153	653	24155											
ZNHIT6	54680	broad.mit.edu	37	chr1	86173606	86173606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccactaaactactatccGtctcctgcttcacctccaat	10	13	2	16	1	2	0	1	0	1	0	5	0	4	0	5	0	4	1	5	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86173606G>A	ENST00000431532.2	-	2	393	c.245C>T	c.(244-246)aCg>aTg	p.T82M	ZNHIT6_ENST00000370574.3_Missense_Mutation_p.T121M	NM_001170670.1|NM_017953.3	NP_001164141.1|NP_060423.3	Q9NWK9	BCD1_HUMAN	zinc finger, HIT-type containing 6	121	Glu-rich.				box C/D snoRNP assembly|ribosome biogenesis	pre-snoRNP complex	identical protein binding|metal ion binding			autonomic_ganglia(1)|breast(2)|cervix(2)|large_intestine(10)|lung(1)|urinary_tract(1)	17						ACTACTATCCGTCTCCTGCTT	0.507													A	86173606	G	A	86173606	3	1	364	1	0	0	0	0	1	0	0	0	18308	1145	40	1	1090	1	ZNHIT6	1	86173606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138	86173606	163077015	654	24156											
COL24A1	255631	broad.mit.edu	37	chr1	86200457	86200457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcatctgaaagcactttaGgttcaagtagagtgtttact	12	14	9	6	0	3	2	2	1	1	1	3	2	3	2	0	1	2	4	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86200457G>T	ENST00000370571.2	-	59	5339	c.4973C>A	c.(4972-4974)cCt>cAt	p.P1658H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1637H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1658	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AAGCACTTTAGGTTCAAGTAG	0.363													T	86200457	G	T	86200457	3	4	364	1	0	0	0	0	1	0	0	0	3714	1000	35	4	179	4	COL24A1	1	86200457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26851	86200457	163050164	655	24157											
COL24A1	255631	broad.mit.edu	37	chr1	86210352	86210352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaccaagaacttaccatCtgatactttttgttcacagt	12	14	6	9	0	2	2	1	1	1	1	2	2	2	2	2	1	4	2	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86210352C>A	ENST00000370571.2	-	57	5035	c.4669G>T	c.(4669-4671)Gat>Tat	p.D1557Y	COL24A1_ENST00000436319.1_Missense_Mutation_p.D1536Y	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1557	Fibrillar collagen NC1.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		AACTTACCATCTGATACTTTT	0.363													A	86210352	C	A	86210352	3	1	364	1	0	0	0	0	1	0	0	0	3714	913	32	4	491	4	COL24A1	1	86210352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9895	86210352	163040269	656	24158											
COL24A1	255631	broad.mit.edu	37	chr1	86304298	86304298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctccaggctctcctctCtctccttggtcccccactgg	2	13	7	19	0	4	0	0	0	4	0	9	0	6	0	5	3	1	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86304298C>T	ENST00000370571.2	-	43	4017	c.3651G>A	c.(3649-3651)gaG>gaA	p.E1217E	COL24A1_ENST00000436319.1_Silent_p.E1217E	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1217	Collagen-like 13.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		GCTCTCCTCTCTCTCCTTGGT	0.418													T	86304298	C	T	86304298	2	4	364	1	0	0	0	0	0	0	0	1	3714	912	32	2		2	COL24A1	1	86304298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93946	86304298	162946323	657	24159											
COL24A1	255631	broad.mit.edu	37	chr1	86313406	86313406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccaatttttccaggaGgacctctgcttccaacttct	7	16	5	13	0	2	0	0	0	2	0	5	2	5	2	4	2	2	1	4	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86313406G>T	ENST00000370571.2	-	39	3770	c.3404C>A	c.(3403-3405)cCt>cAt	p.P1135H	COL24A1_ENST00000436319.1_Missense_Mutation_p.P1135H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	1135	Collagen-like 11.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTTCCAGGAGGACCTCTGCT	0.428													T	86313406	G	T	86313406	3	4	364	1	0	0	0	0	1	0	0	0	3714	1000	35	4	1828	4	COL24A1	1	86313406	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9108	86313406	162937215	658	24160											
COL24A1	255631	broad.mit.edu	37	chr1	86355288	86355288	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacttccaggcaatccCtgtaaaccctggacaaataa	13	9	6	13	0	0	0	0	0	0	0	2	1	2	1	4	2	2	3	4	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86355288C>A	ENST00000370571.2	-	32	3297	c.2931G>T	c.(2929-2931)caG>caT	p.Q977H	COL24A1_ENST00000436319.1_Missense_Mutation_p.Q977H	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	977	Collagen-like 8.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		CAGGCAATCCCTGTAAACCCT	0.383													A	86355288	C	A	86355288	3	1	364	1	0	0	0	0	1	0	0	0	3714	680	24	4	2329	4	COL24A1	1	86355288	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41882	86355288	162895333	659	24161											
CLCA2	9635	broad.mit.edu	37	chr1	86900358	86900358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttccacctcctcccaCattctcgcttgtacaggctg	6	12	7	16	1	1	1	0	1	1	0	5	1	4	1	4	1	2	4	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86900358C>T	ENST00000370565.4	+	6	1064	c.902C>T	c.(901-903)aCa>aTa	p.T301I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	301					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		CCTCCTCCCACATTCTCGCTT	0.478													T	86900358	C	T	86900358	3	4	364	1	0	0	0	0	1	0	0	0	3489	478	17	2	924	2	CLCA2	1	86900358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	545070	86900358	162350263	660	24162											
CLCA2	9635	broad.mit.edu	37	chr1	86905903	86905903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggagatgataagcttCttggcaattgcttacccact	10	11	9	11	1	1	2	0	1	1	1	1	3	1	2	2	2	4	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86905903C>A	ENST00000370565.4	+	8	1438	c.1276C>A	c.(1276-1278)Ctt>Att	p.L426I		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	426	VWFA.				cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGATAAGCTTCTTGGCAATTG	0.443													A	86905903	C	A	86905903	3	1	364	1	0	0	0	0	1	0	0	0	3489	913	32	4	1306	4	CLCA2	1	86905903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5545	86905903	162344718	661	24163											
CLCA2	9635	broad.mit.edu	37	chr1	86909576	86909576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttctagttacgtggcaggCcagtggtcctcctgagatta	7	13	12	9	1	1	1	0	1	1	1	3	2	3	1	3	3	1	3	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86909576C>A	ENST00000370565.4	+	10	1757	c.1595C>A	c.(1594-1596)gCc>gAc	p.A532D		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	532					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		ACGTGGCAGGCCAGTGGTCCT	0.393													A	86909576	C	A	86909576	3	1	364	1	0	0	0	0	1	0	0	0	3489	739	26	4	1633	4	CLCA2	1	86909576	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3673	86909576	162341045	662	24164											
CLCA1	1179	broad.mit.edu	37	chr1	86939129	86939129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccaggcatctctgtatctGcttgaagctacaggaaagcg	11	9	10	11	1	2	1	0	1	2	0	3	2	2	2	1	2	4	4	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86939129G>A	ENST00000234701.3	+	3	543	c.192G>A	c.(190-192)ctG>ctA	p.L64L	CLCA1_ENST00000394711.1_Silent_p.L64L			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	64					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCTGTATCTGCTTGAAGCTA	0.358													A	86939129	G	A	86939129	2	1	364	1	0	0	0	0	0	0	0	1	3488	1306	46	2		2	CLCA1	1	86939129	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29553	86939129	162311492	663	24165											
CLCA1	1179	broad.mit.edu	37	chr1	86954716	86954716	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaactgatggatctgaaaTtgtgctgctgacggatgggg	9	11	14	7	1	1	3	0	3	1	0	2	5	2	5	1	4	3	2	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86954716T>G	ENST00000234701.3	+	9	1571	c.1220T>G	c.(1219-1221)aTt>aGt	p.I407S	CLCA1_ENST00000394711.1_Missense_Mutation_p.I407S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	407	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GGATCTGAAATTGTGCTGCTG	0.448													G	86954716	T	G	86954716	3	3	364	1	0	0	0	0	1	0	0	0	3488	1493	52	5	1250	5	CLCA1	1	86954716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15587	86954716	162295905	664	24166											
CLCA1	1179	broad.mit.edu	37	chr1	86965612	86965612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccgccagagacacctagtCctgatgaaacgtctgctcct	9	9	8	15	2	1	3	0	2	1	1	4	4	4	3	5	0	2	1	5	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:86965612C>T	ENST00000234701.3	+	15	2980	c.2629C>T	c.(2629-2631)Cct>Tct	p.P877S	CLCA1_ENST00000394711.1_Missense_Mutation_p.P877S			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	877					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GACACCTAGTCCTGATGAAAC	0.408													T	86965612	C	T	86965612	3	4	364	1	0	0	0	0	1	0	0	0	3488	855	30	2	2683	2	CLCA1	1	86965612	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10896	86965612	162285009	665	24167											
SH3GLB1	51100	broad.mit.edu	37	chr1	87188228	87188228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcctttgcaggtaatGcccttattaaatgtggagaa	11	16	8	6	0	0	1	0	0	0	1	1	2	1	1	2	2	2	2	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87188228G>A	ENST00000370558.4	+	4	673	c.349G>A	c.(349-351)Gcc>Acc	p.A117T	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A17T|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A117T	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	117	BAR.				anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TGCAGGTAATGCCCTTATTAA	0.308													A	87188228	G	A	87188228	3	1	364	1	0	0	0	0	1	0	0	0	14347	1319	46	2	363	2	SH3GLB1	1	87188228	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222616	87188228	162062393	666	24168											
SH3GLB1	51100	broad.mit.edu	37	chr1	87207962	87207962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatcagttttaccaaatgCgattggttcttctgccatgg	9	14	8	10	1	3	0	1	0	2	0	3	1	3	0	3	2	3	2	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87207962C>T	ENST00000370558.4	+	8	1157	c.833C>T	c.(832-834)gCg>gTg	p.A278V	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.A178V|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.A299V	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	278					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		TTACCAAATGCGATTGGTTCT	0.428													T	87207962	C	T	87207962	3	4	364	1	0	0	0	0	1	0	0	0	14347	768	27	1	863	1	SH3GLB1	1	87207962	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19734	87207962	162042659	667	24169											
SH3GLB1	51100	broad.mit.edu	37	chr1	87208030	87208030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttccaacctcagtgacCttaaggagtgtagtggcagc	9	10	10	12	0	1	1	1	1	0	0	3	2	3	2	4	2	2	2	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:87208030C>A	ENST00000370558.4	+	8	1225	c.901C>A	c.(901-903)Ctt>Att	p.L301I	SH3GLB1_ENST00000535010.1_Missense_Mutation_p.L201I|SH3GLB1_ENST00000482504.1_Missense_Mutation_p.L322I	NM_001206651.1|NM_001206653.1|NM_016009.4	NP_001193580.1|NP_001193582.1|NP_057093.1	Q9Y371	SHLB1_HUMAN	SH3-domain GRB2-like endophilin B1	301					anti-apoptosis|filopodium assembly|signal transduction	Golgi membrane|mitochondrial outer membrane	cytoskeletal adaptor activity|protein homodimerization activity|SH3 domain binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|stomach(1)	11		Lung NSC(277;0.209)		all cancers(265;0.0136)|Epithelial(280;0.0414)		CCTCAGTGACCTTAAGGAGTG	0.453													A	87208030	C	A	87208030	3	1	364	1	0	0	0	0	1	0	0	0	14347	681	24	4	931	4	SH3GLB1	1	87208030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68	87208030	162042591	668	24170											
PKN2	5586	broad.mit.edu	37	chr1	89251812	89251812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgtgctgttttgaagctCgataatactgtggttggcca	7	15	12	7	1	1	1	0	1	1	0	2	2	1	1	1	2	3	4	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89251812C>T	ENST00000370521.3	+	8	1556	c.1197C>T	c.(1195-1197)ctC>ctT	p.L399L	PKN2_ENST00000370505.3_Silent_p.L242L|PKN2_ENST00000370513.5_Silent_p.L399L|PKN2_ENST00000544045.1_Silent_p.L73L|PKN2_ENST00000316005.7_Silent_p.L399L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	399	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		TTTTGAAGCTCGATAATACTG	0.368													T	89251812	C	T	89251812	2	4	364	1	0	0	0	0	0	0	0	1	12057	871	31	1		1	PKN2	1	89251812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2043782	89251812	159998809	669	24171											
PKN2	5586	broad.mit.edu	37	chr1	89270077	89270077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaattatcctagtcaCgtgaactggaaatttcagtt	11	18	6	6	1	2	1	2	1	0	0	3	2	3	2	1	1	1	1	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89270077C>T	ENST00000370521.3	+	9	1644	c.1285C>T	c.(1285-1287)Cgt>Tgt	p.R429C	PKN2_ENST00000370505.3_Missense_Mutation_p.R272C|PKN2_ENST00000370513.5_Intron|PKN2_ENST00000544045.1_Missense_Mutation_p.R103C|PKN2_ENST00000316005.7_Missense_Mutation_p.R429C	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	429	C2.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		atCCTAGTCACGTGAACTGGA	0.318													T	89270077	C	T	89270077	3	4	364	1	0	0	0	0	1	0	0	0	12057	536	19	1	1319	1	PKN2	1	89270077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18265	89270077	159980544	670	24172											
PKN2	5586	broad.mit.edu	37	chr1	89271345	89271345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcatccctcaactagcacCtccagctaggtatgtgtctg	9	10	8	14	1	2	0	1	0	1	0	4	0	4	0	3	1	3	4	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89271345C>T	ENST00000370521.3	+	11	2026	c.1667C>T	c.(1666-1668)cCt>cTt	p.P556L	PKN2_ENST00000370505.3_Missense_Mutation_p.P399L|PKN2_ENST00000370513.5_Missense_Mutation_p.P508L|PKN2_ENST00000544045.1_Missense_Mutation_p.P230L|PKN2_ENST00000316005.7_Missense_Mutation_p.P556L	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	556					signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		CAACTAGCACCTCCAGCTAGG	0.438													T	89271345	C	T	89271345	3	4	364	1	0	0	0	0	1	0	0	0	12057	681	24	2	1709	2	PKN2	1	89271345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1268	89271345	159979276	671	24173											
PKN2	5586	broad.mit.edu	37	chr1	89294209	89294209	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattttgtggcactcctgAatttcttgccccagaagtat	9	14	7	11	0	1	2	0	1	1	1	2	2	2	2	3	1	1	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89294209A>G	ENST00000370521.3	+	19	2824	c.2465A>G	c.(2464-2466)gAa>gGa	p.E822G	PKN2_ENST00000370505.3_Missense_Mutation_p.E665G|PKN2_ENST00000370513.5_Missense_Mutation_p.E774G|PKN2_ENST00000544045.1_Missense_Mutation_p.E496G	NM_006256.2	NP_006247.1	Q16513	PKN2_HUMAN	protein kinase N2	822	Protein kinase.				signal transduction	cytoplasm	ATP binding|histone deacetylase binding|protein kinase C activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(1)	33		Lung NSC(277;0.123)		all cancers(265;0.0136)|Epithelial(280;0.0301)		GGCACTCCTGAATTTCTTGCC	0.378													G	89294209	A	G	89294209	3	3	364	1	0	0	0	0	1	0	0	0	12057	246	9	3	2539	3	PKN2	1	89294209	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22864	89294209	159956412	672	24174											
RBMXL1	494115	broad.mit.edu	37	chr1	89448746	89448746	+	Missense_Mutation	SNP	T	T	C																															cgccatagcctcttgatggaTagtcatcacgtgaactggaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448746T>C	ENST00000399794.2	-	3	1479	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.Y255C|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	255							nucleotide binding|RNA binding										TCTTGATGGATAGTCATCACG	0.428													C	89448746	T	C	89448746	3	2	364	1	0	0	0	0	1	0	0	0	13241	1406	49	3	412	3	RBMXL1	1	89448746	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	154537	89448746	159801875	673	24175	39	2									
RBMXL1	494115	broad.mit.edu	37	chr1	89448756	89448756	+	Missense_Mutation	SNP	G	G	A																															tcttgatggatagtcatcacGtgaactggaatgaccataat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448756G>A	ENST00000399794.2	-	3	1469	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R252C|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	252							nucleotide binding|RNA binding										TAGTCATCACGTGAACTGGAA	0.433													A	89448756	G	A	89448756	3	1	364	1	0	0	0	0	1	0	0	0	13241	1145	40	1	422	1	RBMXL1	1	89448756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	89448756	159801865	674	24176	39	2									
RBMXL1	494115	broad.mit.edu	37	chr1	89448840	89448840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgagaacttgggtaatCtctgcttgaatagctgtctt	10	14	9	8	1	3	2	1	1	2	1	4	3	3	2	0	1	3	3	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448840C>A	ENST00000399794.2	-	3	1385	c.670G>T	c.(670-672)Gat>Tat	p.D224Y	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.D224Y|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	224							nucleotide binding|RNA binding										CTTGGGTAATCTCTGCTTGAA	0.453													A	89448840	C	A	89448840	3	1	364	1	0	0	0	0	1	0	0	0	13241	913	32	4	506	4	RBMXL1	1	89448840	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84	89448840	159801781	675	24177											
RBMXL1	494115	broad.mit.edu	37	chr1	89448867	89448867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagctgtctttagtagAatacccatcatctcttgggg	10	14	9	8	0	3	2	1	1	2	1	4	2	3	2	1	2	2	2	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89448867A>G	ENST00000399794.2	-	3	1358	c.643T>C	c.(643-645)Tct>Cct	p.S215P	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.S215P|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	215							nucleotide binding|RNA binding										TCTTTAGTAGAATACCCATCA	0.448													G	89448867	A	G	89448867	3	3	364	1	0	0	0	0	1	0	0	0	13241	246	9	3	533	3	RBMXL1	1	89448867	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27	89448867	159801754	676	24178											
RBMXL1	494115	broad.mit.edu	37	chr1	89449270	89449270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggtggcttgttccacCttgatggcttttccatctaa	5	17	10	9	0	1	1	0	1	1	0	3	1	3	1	3	4	0	4	3	4	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89449270C>A	ENST00000399794.2	-	3	955	c.240G>T	c.(238-240)aaG>aaT	p.K80N	RBMXL1_ENST00000413769.1_5'UTR|CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.K80N|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	80	RRM.						nucleotide binding|RNA binding										CTTGTTCCACCTTGATGGCTT	0.478											OREG0013593	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	89449270	C	A	89449270	3	1	364	1	0	0	0	0	1	0	0	0	13241	680	24	4	936	4	RBMXL1	1	89449270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	403	89449270	159801351	677	24179											
GBP7	388646	broad.mit.edu	37	chr1	89616141	89616141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcgtacttcttcaacaTggagtaagagttttttgtca	9	17	7	8	1	4	1	2	0	2	1	5	2	4	2	0	1	2	3	0	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89616141T>C	ENST00000294671.2	-	6	881	c.743A>G	c.(742-744)cAt>cGt	p.H248R		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	248						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		TTCTTCAACATGGAGTAAGAG	0.398													C	89616141	T	C	89616141	3	2	364	1	0	0	0	0	1	0	0	0	6333	1464	51	3	1197	3	GBP7	1	89616141	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	166871	89616141	159634480	678	24180											
GBP5	115362	broad.mit.edu	37	chr1	89729442	89729442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattcctttccgaggctcccGatagtactttgccttcagtt	6	16	7	12	2	1	0	1	0	0	0	4	2	4	0	4	1	2	3	4	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89729442G>A	ENST00000343435.5	-	9	1875	c.1339C>T	c.(1339-1341)Cgg>Tgg	p.R447W	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.R447W	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	447						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		CGAGGCTCCCGATAGTACTTT	0.438													A	89729442	G	A	89729442	3	1	364	1	0	0	0	0	1	0	0	0	6331	1057	37	1	437	1	GBP5	1	89729442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113301	89729442	159521179	679	24181											
GBP6	163351	broad.mit.edu	37	chr1	89848258	89848258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagggggatttcttgctGcagaatgaagagtcatctgt	12	11	13	5	0	3	4	1	1	2	3	3	5	3	5	0	2	2	2	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:89848258G>A	ENST00000370456.4	+	8	1281	c.1188G>A	c.(1186-1188)ctG>ctA	p.L396L	GBP6_ENST00000535065.1_Silent_p.L266L	NM_198460.2	NP_940862.2	Q6ZN66	GBP6_HUMAN	guanylate binding protein family, member 6	396							GTP binding|GTPase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42		Lung NSC(277;0.0908)		all cancers(265;0.0108)|Epithelial(280;0.0398)		ATTTCTTGCTGCAGAATGAAG	0.418													A	89848258	G	A	89848258	2	1	364	1	0	0	0	0	0	0	0	1	6332	1306	46	2		2	GBP6	1	89848258	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118816	89848258	159402363	680	24182											
LRRC8C	84230	broad.mit.edu	37	chr1	90178373	90178373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgccagtaccactccactgCctccacctaaaccatctcct	9	10	3	19	0	1	0	0	0	1	0	4	0	3	0	8	0	4	1	8	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90178373C>T	ENST00000370454.4	+	3	499	c.244C>T	c.(244-246)Cct>Tct	p.P82S	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	82						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		CACTCCACTGCCTCCACCTAA	0.478													T	90178373	C	T	90178373	3	4	364	1	0	0	0	0	1	0	0	0	9093	739	26	2	250	2	LRRC8C	1	90178373	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330115	90178373	159072248	681	24183											
LRRC8C	84230	broad.mit.edu	37	chr1	90179921	90179921	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagagctggagctggtcCactgtgacctggagcgtatt	8	10	14	9	1	0	3	0	2	0	1	1	5	1	5	2	3	3	3	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90179921C>A	ENST00000370454.4	+	3	2047	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	RP11-302M6.4_ENST00000370453.5_Intron|LRRC8C_ENST00000479252.1_Intron	NM_032270.4	NP_115646	Q8TDW0	LRC8C_HUMAN	leucine rich repeat containing 8 family, member C	598						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	28		all_lung(203;0.126)		all cancers(265;0.00756)|Epithelial(280;0.0313)		GGAGCTGGTCCACTGTGACCT	0.463													A	90179921	C	A	90179921	3	1	364	1	0	0	0	0	1	0	0	0	9093	594	21	4	1798	4	LRRC8C	1	90179921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1548	90179921	159070700	682	24184											
ZNF326	284695	broad.mit.edu	37	chr1	90473240	90473240	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacgcctgcttatcctgaAagtacgtttggaagcagaaa	13	9	11	8	2	0	2	0	1	0	1	1	4	1	4	2	2	4	4	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:90473240A>C	ENST00000370447.3	+	5	400	c.279A>C	c.(277-279)gaA>gaC	p.E93D	ZNF326_ENST00000455342.2_Intron|ZNF326_ENST00000340281.4_Missense_Mutation_p.E182D			Q5BKZ1	ZN326_HUMAN	zinc finger protein 326		Gly-rich.|Mediates transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix	DNA binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(7)|ovary(1)	25		all_lung(203;0.0116)|Lung NSC(277;0.0417)		all cancers(265;0.00728)|Epithelial(280;0.0265)		CTTATCCTGAAAGTACGTTTG	0.478													C	90473240	A	C	90473240	3	2	364	1	0	0	0	0	1	0	0	0	17947	11	1	5	568	5	ZNF326	1	90473240	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	293319	90473240	158777381	683	24185											
BARHL2	343472	broad.mit.edu	37	chr1	91182144	91182144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccgtggcatttgatgtcGctctgggaatcctcccgctt	5	13	10	13	3	2	1	1	1	1	0	5	2	4	2	3	2	0	3	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91182144G>A	ENST00000370445.4	-	1	650	c.609C>T	c.(607-609)agC>agT	p.S203S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	203						nucleus	sequence-specific DNA binding			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		ATTTGATGTCGCTCTGGGAAT	0.607													A	91182144	G	A	91182144	2	1	364	1	0	0	0	0	0	0	0	1	1319	1078	38	1		1	BARHL2	1	91182144	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	708904	91182144	158068477	684	24186											
ZNF644	84146	broad.mit.edu	37	chr1	91406643	91406643	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaatagactagactggcCtccacttaaggcgttttcag	12	12	8	9	1	1	2	1	0	0	2	2	2	2	2	2	2	0	1	2	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91406643C>A	ENST00000370440.1	-	3	485	c.268G>T	c.(268-270)Ggc>Tgc	p.G90C	ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.G90C|ZNF644_ENST00000361321.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	90					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CTAGACTGGCCTCCACTTAAG	0.393													A	91406643	C	A	91406643	3	1	364	1	0	0	0	0	1	0	0	0	18161	681	24	4	3731	4	ZNF644	1	91406643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224499	91406643	157843978	685	24187											
HFM1	164045	broad.mit.edu	37	chr1	91731665	91731665	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaaagtgtttccaaatcCtatgtgaagagataacattt	15	13	6	7	0	1	2	1	1	0	1	3	3	3	2	2	0	1	1	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91731665C>A	ENST00000370425.3	-	36	3982		c.e36-1		HFM1_ENST00000370424.3_Splice_Site|HFM1_ENST00000462405.1_Intron|HFM1_ENST00000294696.5_Intron	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)								ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCCAAATCCTATGTGAAGA	0.373													A	91731665	C	A	91731665	5	1	364	1	0	0	0	0	0	0	1	0	7138	695	24	4	440	4	HFM1	1	91731665	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325022	91731665	157518956	686	24188											
HFM1	164045	broad.mit.edu	37	chr1	91841220	91841220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgaagtttcactggtCtatggctctcatccattttc	6	18	6	11	0	4	1	2	1	3	0	7	1	5	1	1	2	0	2	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:91841220C>A	ENST00000370425.3	-	12	1558	c.1460G>T	c.(1459-1461)aGa>aTa	p.R487I	HFM1_ENST00000370424.3_Missense_Mutation_p.R166I|HFM1_ENST00000294696.5_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	487							ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TTTCACTGGTCTATGGCTCTC	0.378													A	91841220	C	A	91841220	3	1	364	1	0	0	0	0	1	0	0	0	7138	913	32	4	2959	4	HFM1	1	91841220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109555	91841220	157409401	687	24189											
BRDT	676	broad.mit.edu	37	chr1	92442855	92442855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagaaacatttttcatatGcatggcccttttataatcct	13	15	4	9	0	1	1	1	0	0	1	2	1	2	1	2	1	2	1	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92442855G>A	ENST00000370389.2	+	6	1579	c.655G>A	c.(655-657)Gca>Aca	p.A219T	BRDT_ENST00000362005.3_Missense_Mutation_p.A292T|BRDT_ENST00000484781.1_3'UTR|BRDT_ENST00000399546.2_Missense_Mutation_p.A292T|BRDT_ENST00000394530.3_Missense_Mutation_p.A246T|BRDT_ENST00000402388.1_Missense_Mutation_p.A292T	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		TTTTTCATATGCATGGCCCTT	0.343													A	92442855	G	A	92442855	3	1	364	1	0	0	0	0	1	0	0	0	1517	1319	46	2	892	2	BRDT	1	92442855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	601635	92442855	156807766	688	24190											
BRDT	676	broad.mit.edu	37	chr1	92446488	92446488	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcattggtctaaaatcTgaagatgaagataatgctaa	16	12	8	5	0	3	4	1	2	2	2	3	4	3	4	0	1	1	2	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92446488T>C	ENST00000370389.2	+	10	2208	c.1284T>C	c.(1282-1284)tcT>tcC	p.S428S	BRDT_ENST00000362005.3_Silent_p.S501S|BRDT_ENST00000399546.2_Silent_p.S501S|BRDT_ENST00000394530.3_Silent_p.S455S|BRDT_ENST00000402388.1_Silent_p.S501S	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		GTCTAAAATCTGAAGATGAAG	0.333													C	92446488	T	C	92446488	2	2	364	1	0	0	0	0	0	0	0	1	1517	1567	55	3		3	BRDT	1	92446488	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3633	92446488	156804133	689	24191											
BRDT	676	broad.mit.edu	37	chr1	92459650	92459650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttaacagataggatattGtgtgcaagacacaacctctg	13	12	9	7	0	1	2	0	0	1	2	1	3	1	3	1	1	3	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92459650G>A	ENST00000370389.2	+	15	2831	c.1907G>A	c.(1906-1908)tGt>tAt	p.C636Y	BRDT_ENST00000362005.3_Missense_Mutation_p.C709Y|BRDT_ENST00000399546.2_Missense_Mutation_p.C709Y|BRDT_ENST00000394530.3_Missense_Mutation_p.C663Y|BRDT_ENST00000402388.1_Missense_Mutation_p.C709Y	NM_001242810.1	NP_001229739	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	709	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ATAGGATATTGTGTGCAAGAC	0.343													A	92459650	G	A	92459650	3	1	364	1	0	0	0	0	1	0	0	0	1517	1377	48	2	2180	2	BRDT	1	92459650	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13162	92459650	156790971	690	24192											
BTBD8	284697	broad.mit.edu	37	chr1	92612769	92612769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattgacgtctatactagaAtgcctgattattgctcattc	11	15	6	9	1	2	3	1	2	1	1	3	3	2	3	1	0	3	1	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92612769A>G	ENST00000342818.3	+	8	1199	c.963A>G	c.(961-963)gaA>gaG	p.E321E	BTBD8_ENST00000540648.1_3'UTR	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	321						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		CTATACTAGAATGCCTGATTA	0.328													G	92612769	A	G	92612769	2	3	364	1	0	0	0	0	0	0	0	1	1557	98	4	3		3	BTBD8	1	92612769	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	153119	92612769	156637852	691	24193											
GLMN	11146	broad.mit.edu	37	chr1	92729282	92729282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtaaaccatttgttgttaCgtgttctctgaaaagcaaac	12	14	7	8	1	1	1	0	1	1	0	2	1	1	1	1	0	4	5	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92729282C>T	ENST00000370360.3	-	15	1388	c.1307G>A	c.(1306-1308)cGt>cAt	p.R436H	GLMN_ENST00000534881.1_Missense_Mutation_p.R422H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	436					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTGTTGTTACGTGTTCTCTG	0.343									Multiple Glomus Tumors (of the Skin), Familial				T	92729282	C	T	92729282	3	4	364	1	0	0	0	0	1	0	0	0	6504	536	19	1	497	1	GLMN	1	92729282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116513	92729282	156521339	692	24194											
GLMN	11146	broad.mit.edu	37	chr1	92733470	92733470	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatacatattttatttacCtgaggtacagtaagaaaact	17	13	6	5	0	0	3	0	1	0	2	0	3	0	3	1	1	4	2	1	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92733470C>A	ENST00000370360.3	-	11	1179	c.1098G>T	c.(1096-1098)caG>caT	p.Q366H	GLMN_ENST00000534881.1_Splice_Site_p.Q366H	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	366					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		TTTTATTTACCTGAGGTACAG	0.333									Multiple Glomus Tumors (of the Skin), Familial				A	92733470	C	A	92733470	5	1	364	1	0	0	0	0	0	0	1	0	6504	695	24	4	722	4	GLMN	1	92733470	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4188	92733470	156517151	693	24195											
GLMN	11146	broad.mit.edu	37	chr1	92754541	92754541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatcaatgacttcttccaCaaaaggcttagtgaactcta	13	13	6	9	0	3	2	1	2	2	0	4	2	4	2	1	1	1	2	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92754541C>T	ENST00000370360.3	-	6	643	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	GLMN_ENST00000534881.1_Missense_Mutation_p.V188M	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	188					muscle cell differentiation|negative regulation of T cell proliferation|positive regulation of cytokine secretion|positive regulation of interleukin-2 biosynthetic process|positive regulation of phosphorylation|regulation of gene expression, epigenetic|vasculogenesis	intracellular	hepatocyte growth factor receptor binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ACTTCTTCCACAAAAGGCTTA	0.333									Multiple Glomus Tumors (of the Skin), Familial				T	92754541	C	T	92754541	3	4	364	1	0	0	0	0	1	0	0	0	6504	478	17	2	1278	2	GLMN	1	92754541	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21071	92754541	156496080	694	24196											
RPAP2	79871	broad.mit.edu	37	chr1	92767053	92767053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctgaactagaagcagCtgtgagaaagaagattgaat	18	7	12	4	0	0	6	0	3	0	4	0	8	0	6	0	0	4	3	0	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92767053C>T	ENST00000610020.1	+	3	249	c.140C>T	c.(139-141)gCt>gTt	p.A47V	RPAP2_ENST00000484158.1_Intron	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CTAGAAGCAGCTGTGAGAAAG	0.323													T	92767053	C	T	92767053	3	4	364	1	0	0	0	0	1	0	0	0	13633	797	28	2	150	2	RPAP2	1	92767053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12512	92767053	156483568	695	24197											
RPAP2	79871	broad.mit.edu	37	chr1	92769570	92769570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcactacagtgatgtcGtggatgaacgttctattgtc	8	14	10	9	2	2	2	1	2	1	0	4	3	2	3	0	1	3	2	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92769570G>A	ENST00000610020.1	+	4	380	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		CAGTGATGTCGTGGATGAACG	0.348													A	92769570	G	A	92769570	3	1	364	1	0	0	0	0	1	0	0	0	13633	1145	40	1	285	1	RPAP2	1	92769570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2517	92769570	156481051	696	24198											
RPAP2	79871	broad.mit.edu	37	chr1	92789215	92789215	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagctgcaccaaaaaagCataatgaaaaagaaagctgg	20	4	8	9	0	0	2	0	1	0	1	0	2	0	2	2	1	4	4	2	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:92789215C>T	ENST00000610020.1	+	8	847	c.738C>T	c.(736-738)agC>agT	p.S246S	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2							integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		ACCAAAAAAGCATAATGAAAA	0.393													T	92789215	C	T	92789215	2	4	364	1	0	0	0	0	0	0	0	1	13633	709	25	2		2	RPAP2	1	92789215	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19645	92789215	156461406	697	24199											
EVI5	7813	broad.mit.edu	37	chr1	93159366	93159366	+	Frame_Shift_Del	DEL	T	T	-																															ataaaatacttactttttcaTtttttttgaattgtatttga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93159366delT	ENST00000370331.1	-	9	1231	c.1222delA	c.(1222-1224)atgfs	p.M408fs	EVI5_ENST00000540033.1_Frame_Shift_Del_p.M408fs|EVI5_ENST00000543509.1_Frame_Shift_Del_p.M408fs	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	408	Dimerization.|Interaction with alpha-tubulin, gamma- tubulin, BIRC5 and FBXO5.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		TACTTTTTCATTTTTTTTGAA	0.318													-	93159366	T	-	93159366	7	5	364	1	0	1	0	1	0	0	0	0	5330	1493	52	0	1250	0	EVI5	1	93159366	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	370151	93159366	156091255	698	24200											
RPL5	6125	broad.mit.edu	37	chr1	93301914	93301914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttttggtgccctgaaGggagctgtggatggaggctt	8	12	16	5	0	0	1	0	1	0	0	0	4	0	4	1	5	2	3	1	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93301914G>T	ENST00000370321.3	+	5	582	c.492G>T	c.(490-492)aaG>aaT	p.K164N		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	164					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		GTGCCCTGAAGGGAGCTGTGG	0.483													T	93301914	G	T	93301914	3	4	364	1	0	0	0	0	1	0	0	0	13688	991	35	4	510	4	RPL5	1	93301914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142548	93301914	155948707	699	24201											
FAM69A	388650	broad.mit.edu	37	chr1	93341945	93341945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacaaaaaccactaaccAggaaaagaaaagatatttca	22	6	4	9	0	1	2	1	0	0	2	2	3	2	3	3	1	3	0	3	1	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93341945A>C	ENST00000370310.4	-	2	167	c.97T>G	c.(97-99)Tgg>Ggg	p.W33G		NM_001006605.4|NM_001252269.1|NM_001252271.1	NP_001006606.2|NP_001239198.1|NP_001239200.1	Q5T7M9	FA69A_HUMAN	family with sequence similarity 69, member A	33						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4		all_lung(203;0.00265)|Lung NSC(277;0.00562)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000563)|all cancers(265;0.000751)|Epithelial(280;0.127)		ACCACTAACCAGGAAAAGAAA	0.348													C	93341945	A	C	93341945	3	2	364	1	0	0	0	0	1	0	0	0	5652	188	7	5	1205	5	FAM69A	1	93341945	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40031	93341945	155908676	700	24202											
MTF2	22823	broad.mit.edu	37	chr1	93594929	93594929	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtggctttcaaagcaGagaaagaacctgaaggaaca	18	6	10	7	0	1	3	1	1	0	2	1	5	1	4	1	2	3	2	1	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93594929G>T	ENST00000370298.4	+	11	1373	c.1084G>T	c.(1084-1086)Gag>Tag	p.E362*	MTF2_ENST00000370303.4_Intron|MTF2_ENST00000540243.1_Nonsense_Mutation_p.E260*|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Nonsense_Mutation_p.E260*	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	362						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		TTTCAAAGCAGAGAAAGAACC	0.378													T	93594929	G	T	93594929	4	4	364	1	0	0	0	0	0	1	0	0	9999	943	33	4	1126	4	MTF2	1	93594929	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252984	93594929	155655692	701	24203											
MTF2	22823	broad.mit.edu	37	chr1	93602428	93602428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataacttagcagatcaggaGttacaactcaatcatctaaa	18	10	5	8	0	4	1	3	0	1	1	4	2	4	2	0	1	4	2	0	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93602428G>A	ENST00000370298.4	+	15	1915	c.1626G>A	c.(1624-1626)gaG>gaA	p.E542E	MTF2_ENST00000370303.4_Silent_p.E485E|MTF2_ENST00000540243.1_Silent_p.E440E|MTF2_ENST00000471953.1_3'UTR|MTF2_ENST00000545708.1_Silent_p.E440E	NM_001164392.1|NM_007358.3	NP_001157864.1|NP_031384	Q9Y483	MTF2_HUMAN	metal response element binding transcription factor 2	542						nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(203;0.00196)|Lung NSC(277;0.00902)|Melanoma(281;0.099)|Ovarian(761;0.109)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00076)|GBM - Glioblastoma multiforme(16;0.00157)|Epithelial(280;0.0886)		CAGATCAGGAGTTACAACTCA	0.388													A	93602428	G	A	93602428	2	1	364	1	0	0	0	0	0	0	0	1	9999	1020	36	2		2	MTF2	1	93602428	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7499	93602428	155648193	702	24204											
TMED5	50999	broad.mit.edu	37	chr1	93621972	93621972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattaattcaaagaaaatcAccttctcagaaatggtgctg	15	11	8	7	0	3	2	3	0	1	2	4	3	3	3	1	2	1	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93621972A>G	ENST00000370282.3	-	3	841	c.356T>C	c.(355-357)gTg>gCg	p.V119A	TMED5_ENST00000479918.1_Missense_Mutation_p.V119A|TMED5_ENST00000370280.1_Missense_Mutation_p.V119A|TMED5_ENST00000483033.1_5'UTR	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	119	GOLD.				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		AAAGAAAATCACCTTCTCAGA	0.328													G	93621972	A	G	93621972	3	3	364	1	0	0	0	0	1	0	0	0	16107	159	6	3	394	3	TMED5	1	93621972	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19544	93621972	155628649	703	24205											
CCDC18	343099	broad.mit.edu	37	chr1	93646192	93646192	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcgccgaccacgatccccgGcaagccccgcgccttcggcg	5	4	11	21	8	0	0	0	0	0	0	3	2	1	0	7	2	1	1	7	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:93646192G>A	ENST00000557479.1	+	1	273	c.105G>A	c.(103-105)cgG>cgA	p.R35R	CCDC18_ENST00000401026.3_5'UTR|CCDC18_ENST00000343253.7_Intron|TMED5_ENST00000370282.3_5'UTR|CCDC18_ENST00000338949.4_5'UTR|CCDC18_ENST00000334652.5_5'UTR	NM_206886.3	NP_996769.3	Q5T9S5	CCD18_HUMAN	coiled-coil domain containing 18	0										breast(5)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		all_lung(203;0.00196)|Lung NSC(277;0.00903)|Melanoma(281;0.099)|all_neural(321;0.185)|Glioma(108;0.203)		all cancers(265;0.00166)|GBM - Glioblastoma multiforme(16;0.00551)|Epithelial(280;0.0967)		ACGATCCCCGGCAAGCCCCGC	0.711													A	93646192	G	A	93646192	2	1	364	1	0	0	0	0	0	0	0	1	2821	1190	42	2		2	CCDC18	1	93646192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24220	93646192	155604429	704	24206											
FNBP1L	54874	broad.mit.edu	37	chr1	94016649	94016649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatagatgtaactctagaGaaaaacagtaaaggtgcagt	18	9	9	5	0	1	2	0	0	1	2	1	3	1	2	0	1	4	3	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94016649G>T	ENST00000260506.8	+	14	1774	c.1623G>T	c.(1621-1623)gaG>gaT	p.E541D	FNBP1L_ENST00000370256.4_Missense_Mutation_p.E594D|FNBP1L_ENST00000370253.2_Missense_Mutation_p.E541D|FNBP1L_ENST00000604705.1_Missense_Mutation_p.E599D|FNBP1L_ENST00000271234.7_Missense_Mutation_p.E599D	NM_001024948.2|NM_017737.4	NP_001020119.1|NP_060207.2	Q5T0N5	FBP1L_HUMAN	formin binding protein 1-like	599	Interaction with DAAM1, DIAPH1 and DIAPH2.|Interaction with DNM1.|Interaction with DNM2 and WASL.|SH3.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	lipid binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|urinary_tract(1)	11		all_lung(203;0.00206)|Lung NSC(277;0.00902)|Melanoma(281;0.155)		all cancers(265;0.00666)|GBM - Glioblastoma multiforme(16;0.0378)|Epithelial(280;0.111)		TAACTCTAGAGAAAAACAGTA	0.413													T	94016649	G	T	94016649	3	4	364	1	0	0	0	0	1	0	0	0	6015	933	33	4	1859	4	FNBP1L	1	94016649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	370457	94016649	155233972	705	24207											
BCAR3	8412	broad.mit.edu	37	chr1	94048337	94048337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttgcagggcttaggcggggGcttagggcacagttgactgt	6	10	17	8	1	0	1	0	1	0	0	0	1	0	1	0	5	1	5	0	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048337G>T	ENST00000370244.1	-	9	1495	c.1207C>A	c.(1207-1209)Ccc>Acc	p.P403T	BCAR3_ENST00000260502.6_Missense_Mutation_p.P403T|BCAR3_ENST00000370243.1_Missense_Mutation_p.P403T|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_Missense_Mutation_p.P79T|BCAR3_ENST00000370247.3_Missense_Mutation_p.P312T	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	403					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		TTAGGCGGGGGCTTAGGGCAC	0.627													T	94048337	G	T	94048337	3	4	364	1	0	0	0	0	1	0	0	0	1354	1203	42	4	1294	4	BCAR3	1	94048337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31688	94048337	155202284	706	24208											
BCAR3	8412	broad.mit.edu	37	chr1	94048358	94048358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagggcacagttgactgtCtgatcccctcagcgcctccc	6	10	9	16	1	2	2	1	2	1	0	4	2	4	2	4	1	1	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94048358C>A	ENST00000370244.1	-	9	1474	c.1186G>T	c.(1186-1188)Gac>Tac	p.D396Y	BCAR3_ENST00000260502.6_Missense_Mutation_p.D396Y|BCAR3_ENST00000370243.1_Missense_Mutation_p.D396Y|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_Missense_Mutation_p.D72Y|BCAR3_ENST00000370247.3_Missense_Mutation_p.D305Y	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	396					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGTTGACTGTCTGATCCCCTC	0.637													A	94048358	C	A	94048358	3	1	364	1	0	0	0	0	1	0	0	0	1354	913	32	4	1315	4	BCAR3	1	94048358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	94048358	155202263	707	24209											
BCAR3	8412	broad.mit.edu	37	chr1	94049657	94049657	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatccaggcaggcgggctgGctaccactcttttctttgtt	5	14	11	11	1	2	1	0	1	2	0	3	1	3	1	2	4	1	4	2	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94049657G>A	ENST00000370244.1	-	8	1239	c.951C>T	c.(949-951)agC>agT	p.S317S	BCAR3_ENST00000260502.6_Silent_p.S317S|BCAR3_ENST00000370243.1_Silent_p.S317S|BCAR3_ENST00000466632.1_5'UTR|BCAR3_ENST00000539242.1_5'UTR|BCAR3_ENST00000370247.3_Silent_p.S226S	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	317					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGCGGGCTGGCTACCACTCT	0.453													A	94049657	G	A	94049657	2	1	364	1	0	0	0	0	0	0	0	1	1354	1194	42	2		2	BCAR3	1	94049657	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1299	94049657	155200964	708	24210											
BCAR3	8412	broad.mit.edu	37	chr1	94054696	94054696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcaccgcagaggcaccGtcctgttgatgggctggaag	8	6	15	12	2	0	2	0	1	0	1	1	3	1	3	4	4	0	5	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94054696G>A	ENST00000370244.1	-	7	1055	c.767C>T	c.(766-768)aCg>aTg	p.T256M	BCAR3_ENST00000260502.6_Missense_Mutation_p.T256M|BCAR3_ENST00000370243.1_Missense_Mutation_p.T256M|BCAR3_ENST00000370247.3_Missense_Mutation_p.T165M	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	256					response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		CAGAGGCACCGTCCTGTTGAT	0.672													A	94054696	G	A	94054696	3	1	364	1	0	0	0	0	1	0	0	0	1354	1145	40	1	1742	1	BCAR3	1	94054696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5039	94054696	155195925	709	24211											
BCAR3	8412	broad.mit.edu	37	chr1	94057826	94057826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacaagaccaggtacctgtCgggggatgcggccgtggtac	8	6	17	10	3	0	1	0	0	0	1	1	3	0	3	3	6	3	2	3	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94057826C>T	ENST00000370244.1	-	6	770	c.482G>A	c.(481-483)cGa>cAa	p.R161Q	RP5-1033H22.2_ENST00000427243.1_RNA|BCAR3_ENST00000260502.6_Missense_Mutation_p.R161Q|RP5-1033H22.2_ENST00000417401.1_RNA|RP5-1033H22.2_ENST00000431770.1_RNA|BCAR3_ENST00000370243.1_Missense_Mutation_p.R161Q|BCAR3_ENST00000370247.3_Missense_Mutation_p.R70Q	NM_001261408.1	NP_001248337.1	O75815	BCAR3_HUMAN	breast cancer anti-estrogen resistance 3	161	SH2.				response to drug|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	25		all_lung(203;0.00145)|Lung NSC(277;0.00662)		all cancers(265;0.0126)|GBM - Glioblastoma multiforme(16;0.0467)|Epithelial(280;0.166)		AGGTACCTGTCGGGGGATGCG	0.627													T	94057826	C	T	94057826	3	4	364	1	0	0	0	0	1	0	0	0	1354	884	31	1	2031	1	BCAR3	1	94057826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3130	94057826	155192795	710	24212											
ABCA4	24	broad.mit.edu	37	chr1	94467503	94467503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacgtgccagccaggcagtCggcgtagacagtcaggccca	9	5	14	13	3	1	1	1	0	0	1	2	1	1	1	3	3	3	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94467503C>T	ENST00000370225.3	-	45	6279	c.6193G>A	c.(6193-6195)Gac>Aac	p.D2065N	ABCA4_ENST00000535881.1_Missense_Mutation_p.D184N|ABCA4_ENST00000536513.1_Missense_Mutation_p.D335N|ABCA4_ENST00000465352.1_5'UTR	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2065	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCCAGGCAGTCGGCGTAGACA	0.562													T	94467503	C	T	94467503	3	4	364	1	0	0	0	0	1	0	0	0	34	884	31	1	652	1	ABCA4	1	94467503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	409677	94467503	154783118	711	24213											
ABCA4	24	broad.mit.edu	37	chr1	94496601	94496601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggggtgaagggtcaaagCggggtattcgccaaaaggag	12	5	17	7	2	1	1	1	1	0	0	2	2	1	2	2	6	1	1	2	6	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94496601C>T	ENST00000370225.3	-	28	4290	c.4204G>A	c.(4204-4206)Gct>Act	p.A1402T		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1402					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGGTCAAAGCGGGGTATTCG	0.532													T	94496601	C	T	94496601	3	4	364	1	0	0	0	0	1	0	0	0	34	768	27	1	2709	1	ABCA4	1	94496601	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29098	94496601	154754020	712	24214											
ARHGAP29	9411	broad.mit.edu	37	chr1	94640257	94640257	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggttttaccatcttctatcTtttgggatgctgattcagcc	6	17	9	9	0	4	1	1	1	3	0	4	2	4	2	2	2	3	2	2	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94640257T>G	ENST00000260526.6	-	23	3136	c.2954A>C	c.(2953-2955)aAg>aCg	p.K985T		NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	985					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATCTTCTATCTTTTGGGATGC	0.398													G	94640257	T	G	94640257	3	3	364	1	0	0	0	0	1	0	0	0	881	1609	56	5	835	5	ARHGAP29	1	94640257	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	143656	94640257	154610364	713	24215											
ARHGAP29	9411	broad.mit.edu	37	chr1	94685814	94685814	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactatatcttccttacCtttcacttttgcagtgagca	8	19	4	10	0	2	1	1	1	1	0	3	1	3	1	2	0	4	2	2	0	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94685814C>T	ENST00000260526.6	-	3	522	c.340G>A	c.(340-342)Gct>Act	p.A114T	ARHGAP29_ENST00000370217.3_Splice_Site_p.A114T	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	114					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TCTTCCTTACCTTTCACTTTT	0.368													T	94685814	C	T	94685814	5	4	364	1	0	0	0	0	0	0	1	0	881	695	24	2	3529	2	ARHGAP29	1	94685814	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45557	94685814	154564807	714	24216											
F3	2152	broad.mit.edu	37	chr1	94998763	94998763	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtccgttcatcttctacGgtcacattcacttttgttcc	8	16	5	12	2	5	0	3	0	2	0	7	0	7	0	2	1	1	2	2	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:94998763G>A	ENST00000334047.7	-	4	637	c.474C>T	c.(472-474)acC>acT	p.T158T	F3_ENST00000480356.1_5'UTR|F3_ENST00000370207.4_Silent_p.T158T	NM_001993.4	NP_001984.1	P13726	TF_HUMAN	coagulation factor III (thromboplastin, tissue factor)	158					activation of caspase activity|activation of plasma proteins involved in acute inflammatory response|anti-apoptosis|blood coagulation, extrinsic pathway|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of protein kinase B signaling cascade	extracellular matrix|extracellular space|integral to membrane	cell surface binding|phospholipid binding|protease binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)	14		all_lung(203;0.00106)|Lung NSC(277;0.00475)		all cancers(265;0.0232)|Epithelial(280;0.121)	Coagulation factor VIIa(DB00036)	CATCTTCTACGGTCACATTCA	0.398													A	94998763	G	A	94998763	2	1	364	1	0	0	0	0	0	0	0	1	5389	1103	39	1		1	F3	1	94998763	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	312949	94998763	154251858	715	24217											
SLC44A3	126969	broad.mit.edu	37	chr1	95357892	95357892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggcttttaactacaatcGggcattccaggtgtgggcag	9	11	12	9	1	0	0	0	0	0	0	2	0	1	0	1	4	2	3	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95357892G>A	ENST00000271227.6	+	14	1778	c.1676G>A	c.(1675-1677)cGg>cAg	p.R559Q	SLC44A3_ENST00000529450.1_Missense_Mutation_p.R526Q|SLC44A3_ENST00000532427.1_Missense_Mutation_p.R479Q|SLC44A3_ENST00000527077.1_Missense_Mutation_p.R491Q|SLC44A3_ENST00000446120.2_Missense_Mutation_p.R523Q|SLC44A3_ENST00000467909.1_Missense_Mutation_p.R511Q	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	559						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	AACTACAATCGGGCATTCCAG	0.408													A	95357892	G	A	95357892	3	1	364	1	0	0	0	0	1	0	0	0	14731	1116	39	1	1730	1	SLC44A3	1	95357892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	359129	95357892	153892729	716	24218											
CNN3	1266	broad.mit.edu	37	chr1	95367782	95367782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcataccataagcctgAatagctttaataaagttgcc	13	12	7	9	0	1	1	1	1	0	0	1	1	1	1	3	1	4	3	3	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95367782A>G	ENST00000370206.4	-	4	662	c.279T>C	c.(277-279)atT>atC	p.I93I	CNN3_ENST00000545882.1_Silent_p.I52I|CNN3_ENST00000394202.4_Intron|CNN3_ENST00000487539.1_5'UTR|CNN3_ENST00000538964.1_Silent_p.I93I	NM_001839.3	NP_001830.1	Q15417	CNN3_HUMAN	calponin 3, acidic	93	CH.				actomyosin structure organization|smooth muscle contraction		actin binding|calmodulin binding|tropomyosin binding|troponin C binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(1)|stomach(1)|urinary_tract(2)	18		all_lung(203;0.00206)|Lung NSC(277;0.00948)		all cancers(265;0.0325)|Epithelial(280;0.0861)		CATAAGCCTGAATAGCTTTAA	0.348													G	95367782	A	G	95367782	2	3	364	1	0	0	0	0	0	0	0	1	3642	242	9	3		3	CNN3	1	95367782	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9890	95367782	153882839	717	24219											
TMEM56	148534	broad.mit.edu	37	chr1	95609489	95609489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaaaactgctcatcagtgTtacctgtatcagctttttca	11	14	5	11	0	4	0	4	0	0	0	4	0	4	0	1	0	4	4	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:95609489T>C	ENST00000370203.4	+	2	323	c.32T>C	c.(31-33)gTt>gCt	p.V11A	TMEM56_ENST00000463375.1_3'UTR|RP11-57H12.6_ENST00000604534.1_Missense_Mutation_p.V11A	NM_001199679.1|NM_152487.2	NP_001186608.1|NP_689700.1	Q96MV1	TMM56_HUMAN	transmembrane protein 56	11						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	12		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.133)		CTCATCAGTGTTACCTGTATC	0.333													C	95609489	T	C	95609489	3	2	364	1	0	0	0	0	1	0	0	0	16283	1725	60	3	34	3	TMEM56	1	95609489	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	241707	95609489	153641132	718	24220											
DPYD	1806	broad.mit.edu	37	chr1	97771825	97771825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacagcttgcctaacccagCggcagatgttccgcaccagc	10	6	10	15	2	0	1	0	0	0	1	1	2	1	1	4	1	6	4	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:97771825C>T	ENST00000370192.3	-	17	2187	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	DPYD-AS1_ENST00000422980.1_RNA	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	696					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CCTAACCCAGCGGCAGATGTT	0.428													T	97771825	C	T	97771825	3	4	364	1	0	0	0	0	1	0	0	0	4784	768	27	1	1018	1	DPYD	1	97771825	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2162336	97771825	151478796	719	24221											
DPYD	1806	broad.mit.edu	37	chr1	98165066	98165066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctgggggaggcagcgaaGgatttctgatctgtgggata	8	12	16	5	1	3	1	0	1	3	0	3	5	3	4	0	5	1	1	0	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98165066G>T	ENST00000370192.3	-	6	621	c.521C>A	c.(520-522)cCt>cAt	p.P174H	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_3'UTR	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	174					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGGCAGCGAAGGATTTCTGAT	0.403													T	98165066	G	T	98165066	3	4	364	1	0	0	0	0	1	0	0	0	4784	1000	35	4	2628	4	DPYD	1	98165066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	393241	98165066	151085555	720	24222											
DPYD	1806	broad.mit.edu	37	chr1	98186449	98186449	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagaatcaaagtctttacaAatgattcattaaagagaaag	20	10	7	4	0	3	3	2	1	1	2	3	5	3	3	0	0	1	0	0	0	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98186449A>G	ENST00000306031.5	-	6	643	c.517T>C	c.(517-519)Ttg>Ctg	p.L173L	DPYD_ENST00000474241.1_5'UTR|DPYD_ENST00000423006.2_Intron|DPYD_ENST00000370192.3_Intron	NM_001160301.1	NP_001153773	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	0					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	AGTCTTTACAAATGATTCATT	0.338													G	98186449	A	G	98186449	2	3	364	1	0	0	0	0	0	0	0	1	4784	11	1	3		3	DPYD	1	98186449	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21383	98186449	151064172	721	24223											
DPYD	1806	broad.mit.edu	37	chr1	98187214	98187214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaatatcatcttagcaGctccataatagttctgcaaa	16	11	5	9	0	3	1	1	0	2	1	4	1	4	1	1	0	3	4	1	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:98187214G>T	ENST00000370192.3	-	5	435	c.335C>A	c.(334-336)gCt>gAt	p.A112D	DPYD_ENST00000423006.2_Missense_Mutation_p.A75D|DPYD_ENST00000306031.5_Missense_Mutation_p.A112D	NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	112					'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	CATCTTAGCAGCTCCATAATA	0.323													T	98187214	G	T	98187214	3	4	364	1	0	0	0	0	1	0	0	0	4784	971	34	4	2861	4	DPYD	1	98187214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	765	98187214	151063407	722	24224											
SNX7	51375	broad.mit.edu	37	chr1	99161245	99161245	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatttgatagataaaataTctcagagaatttataaggaa	20	13	6	2	0	1	3	1	1	1	2	2	5	1	4	0	1	0	0	0	1	10	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:99161245T>G	ENST00000370189.5	+	6	983	c.619T>G	c.(619-621)Tct>Gct	p.S207A	SNX7_ENST00000306121.3_Missense_Mutation_p.S271A|SNX7_ENST00000529992.1_Missense_Mutation_p.S216A			Q9UNH6	SNX7_HUMAN	sorting nexin 7	207					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		AGATAAAATATCTCAGAGAAT	0.318													G	99161245	T	G	99161245	3	3	364	1	0	0	0	0	1	0	0	0	15001	1435	50	5	829	5	SNX7	1	99161245	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	974031	99161245	150089376	723	24225											
PALMD	54873	broad.mit.edu	37	chr1	100127886	100127886	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatttcaggataaaagaaaAatacaggaagaaatctcaca	21	9	6	5	0	2	2	2	0	1	2	3	4	2	4	0	2	1	0	0	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100127886A>C	ENST00000263174.4	+	2	432	c.57A>C	c.(55-57)aaA>aaC	p.K19N	PALMD_ENST00000605497.1_Missense_Mutation_p.K19N	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	19					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		ATAAAAGAAAAATACAGGAAG	0.313													C	100127886	A	C	100127886	3	2	364	1	0	0	0	0	1	0	0	0	11487	11	1	5	63	5	PALMD	1	100127886	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	966641	100127886	149122735	724	24226											
PALMD	54873	broad.mit.edu	37	chr1	100155449	100155449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaataaaaatgacaaggcaTgccactgctgttcagtcatg	14	10	9	8	0	2	1	2	1	0	0	2	1	2	1	1	1	2	4	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100155449T>C	ENST00000605497.1	+	7	1758	c.1633T>C	c.(1633-1635)Tgc>Cgc	p.C545R	PALMD_ENST00000263174.4_Intron			Q9NP74	PALMD_HUMAN	palmdelphin	0					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		TGACAAGGCATGCCACTGCTG	0.463													C	100155449	T	C	100155449	3	2	364	1	0	0	0	0	1	0	0	0	11487	1479	51	3		3	PALMD	1	100155449	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27563	100155449	149095172	725	24227											
FRRS1	391059	broad.mit.edu	37	chr1	100174574	100174574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcctgcaaaagccaaggtCtttgcttgctcatagatggt	9	12	11	9	0	2	1	1	0	1	1	2	1	2	1	2	3	4	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100174574C>T	ENST00000287474.5	-	17	2362	c.1761G>A	c.(1759-1761)aaG>aaA	p.K587K	FRRS1_ENST00000414213.1_3'UTR	NM_001013660.2	NP_001013682.2	Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	0					electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		AAGCCAAGGTCTTTGCTTGCT	0.383													T	100174574	C	T	100174574	2	4	364	1	0	0	0	0	0	0	0	1	6112	912	32	2		2	FRRS1	1	100174574	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19125	100174574	149076047	726	24228											
AGL	178	broad.mit.edu	37	chr1	100353658	100353658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccttaaatatgcaggtCttcaaggtaagcaaatggaa	15	9	9	8	0	2	0	1	0	1	0	2	1	2	1	1	3	3	3	1	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100353658C>A	ENST00000294724.4	+	21	3284	c.2806C>A	c.(2806-2808)Ctt>Att	p.L936I	AGL_ENST00000370161.2_Missense_Mutation_p.L920I|AGL_ENST00000370165.3_Missense_Mutation_p.L936I|AGL_ENST00000361522.4_Missense_Mutation_p.L919I|AGL_ENST00000361915.3_Missense_Mutation_p.L936I|AGL_ENST00000361302.3_Missense_Mutation_p.L920I|AGL_ENST00000370163.3_Missense_Mutation_p.L936I	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	936					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		ATATGCAGGTCTTCAAGGTAA	0.418													A	100353658	C	A	100353658	3	1	364	1	0	0	0	0	1	0	0	0	384	913	32	4	2953	4	AGL	1	100353658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179084	100353658	148896963	727	24229											
HIAT1	64645	broad.mit.edu	37	chr1	100525513	100525513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatccttcttgctgctaaCggtgtttttcacatgtgccc	8	15	7	11	1	2	0	1	0	1	0	3	0	3	0	2	1	4	3	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100525513C>T	ENST00000370152.3	+	4	459	c.323C>T	c.(322-324)aCg>aTg	p.T108M	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	108					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTGCTGCTAACGGTGTTTTTC	0.378													T	100525513	C	T	100525513	3	4	364	1	0	0	0	0	1	0	0	0	7152	536	19	1	337	1	HIAT1	1	100525513	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171855	100525513	148725108	728	24230											
LRRC39	127495	broad.mit.edu	37	chr1	100620647	100620647	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcatactggaatatcttGcagtttattgttgctgagaa	11	15	9	6	0	1	1	0	1	1	1	1	3	1	2	0	1	4	5	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100620647G>A	ENST00000370138.1	-	8	970	c.772C>T	c.(772-774)Caa>Taa	p.Q258*	LRRC39_ENST00000342895.3_Nonsense_Mutation_p.Q258*|LRRC39_ENST00000370137.1_Nonsense_Mutation_p.Q258*	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	258										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		GGAATATCTTGCAGTTTATTG	0.368													A	100620647	G	A	100620647	4	1	364	1	0	0	0	0	0	1	0	0	9065	1328	46	2	247	2	LRRC39	1	100620647	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95134	100620647	148629974	729	24231											
LRRC39	127495	broad.mit.edu	37	chr1	100633981	100633981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgttgaaattccttctctCgcttcaggtcttcattgagt	6	18	8	9	1	4	2	2	2	2	0	7	2	5	2	1	1	0	2	1	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100633981C>T	ENST00000370138.1	-	3	290	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	LRRC39_ENST00000342895.3_Missense_Mutation_p.R31Q|LRRC39_ENST00000370137.1_Missense_Mutation_p.R31Q	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	31										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TTCCTTCTCTCGCTTCAGGTC	0.323													T	100633981	C	T	100633981	3	4	364	1	0	0	0	0	1	0	0	0	9065	884	31	1	947	1	LRRC39	1	100633981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13334	100633981	148616640	730	24232											
CDC14A	8556	broad.mit.edu	37	chr1	100889837	100889837	+	Frame_Shift_Del	DEL	C	C	-																															gcactcctgtctggctcaaaCcccccctatcttccattcag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100889837delC	ENST00000370125.2	+	5	857	c.369delC	c.(367-369)aacfs	p.N123fs	CDC14A_ENST00000469387.1_3'UTR|CDC14A_ENST00000361544.6_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000370124.3_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000542213.1_Frame_Shift_Del_p.N65fs|CDC14A_ENST00000544534.1_Frame_Shift_Del_p.N123fs|CDC14A_ENST00000336454.3_Frame_Shift_Del_p.N123fs			Q9UNH5	CC14A_HUMAN	cell division cycle 14A	123	A.				cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		CTGGCTCAAACCCCCCCTATC	0.403													-	100889837	C	-	100889837	7	5	364	1	0	1	0	1	0	0	0	0	3086	506	18	0	387	0	CDC14A	1	100889837	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	255856	100889837	148360784	731	24233											
CDC14A	8556	broad.mit.edu	37	chr1	100908489	100908489	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattcaaattctgcttttaGggattacaacatggattttt	12	18	6	5	0	2	0	1	0	1	0	2	2	2	2	0	2	3	1	0	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100908489G>T	ENST00000370125.2	+	7	944		c.e7-1		CDC14A_ENST00000469387.1_Splice_Site|CDC14A_ENST00000361544.6_Splice_Site|CDC14A_ENST00000542213.1_Splice_Site|CDC14A_ENST00000544534.1_Splice_Site|CDC14A_ENST00000336454.3_Splice_Site|CDC14A_ENST00000370124.3_Splice_Site			Q9UNH5	CC14A_HUMAN	cell division cycle 14A						cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCTGCTTTTAGGGATTACAAC	0.289													T	100908489	G	T	100908489	5	4	364	1	0	0	0	0	0	0	1	0	3086	1014	35	4	482	4	CDC14A	1	100908489	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18652	100908489	148342132	732	24234											
CDC14A	8556	broad.mit.edu	37	chr1	100963754	100963754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtcttcgggtgccaCtgtaagaaggtaatttttct	7	18	9	7	1	3	1	0	0	3	1	4	1	3	1	1	2	1	2	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:100963754C>T	ENST00000336454.3	+	14	1767	c.1412C>T	c.(1411-1413)aCt>aTt	p.T471I	CDC14A_ENST00000361544.6_Missense_Mutation_p.T471I|CDC14A_ENST00000542213.1_Missense_Mutation_p.T413I|CDC14A_ENST00000544534.1_Missense_Mutation_p.T471I|CDC14A_ENST00000370125.2_3'UTR	NM_003672.3	NP_003663.2	Q9UNH5	CC14A_HUMAN	cell division cycle 14A	471					cell cycle|cell division|cell proliferation	centrosome|nucleus|spindle	protein binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(6)|large_intestine(6)|lung(10)|skin(2)|urinary_tract(1)	31		all_epithelial(167;3.71e-06)|all_lung(203;0.00097)|Lung NSC(277;0.001)		Epithelial(280;0.0676)|all cancers(265;0.127)|COAD - Colon adenocarcinoma(174;0.201)|Lung(183;0.227)|Colorectal(144;0.241)		TCGGGTGCCACTGTAAGAAGG	0.468													T	100963754	C	T	100963754	3	4	364	1	0	0	0	0	1	0	0	0	3086	565	20	2	1481	2	CDC14A	1	100963754	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55265	100963754	148286867	733	24235											
GPR88	54112	broad.mit.edu	37	chr1	101005515	101005515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctgcgccctgtccgcgctCaatccgctgctctacacgtg	4	10	10	17	5	2	0	1	0	1	0	4	0	4	0	3	0	4	4	3	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101005515C>T	ENST00000315033.4	+	2	1432	c.993C>T	c.(991-993)ctC>ctT	p.L331L		NM_022049.2	NP_071332.2	Q9GZN0	GPR88_HUMAN	G protein-coupled receptor 88	331						integral to membrane|plasma membrane	G-protein coupled receptor activity			large_intestine(2)|skin(1)	3		all_epithelial(167;1.19e-05)|all_lung(203;0.00159)|Lung NSC(277;0.00171)		Epithelial(280;0.0372)|all cancers(265;0.0558)|COAD - Colon adenocarcinoma(174;0.141)|Colorectal(144;0.156)|Lung(183;0.189)		TGTCCGCGCTCAATCCGCTGC	0.726													T	101005515	C	T	101005515	2	4	364	1	0	0	0	0	0	0	0	1	6771	813	29	2		2	GPR88	1	101005515	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41761	101005515	148245106	734	24236											
VCAM1	7412	broad.mit.edu	37	chr1	101186146	101186146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccccatttttctcttggaGaacccagatagatagtccac	10	12	7	12	0	1	3	0	0	1	3	4	4	3	3	4	1	1	0	4	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101186146G>A	ENST00000294728.2	+	2	280	c.179G>A	c.(178-180)aGa>aAa	p.R60K	VCAM1_ENST00000347652.2_Missense_Mutation_p.R60K|VCAM1_ENST00000370119.4_Intron|VCAM1_ENST00000370115.1_Missense_Mutation_p.R60K	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	60	Ig-like C2-type 1.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding	p.R60K(1)		central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TTCTCTTGGAGAACCCAGATA	0.478													A	101186146	G	A	101186146	3	1	364	1	0	0	0	0	1	0	0	0	17239	942	33	2	185	2	VCAM1	1	101186146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180631	101186146	148064475	735	24237											
DPH5	51611	broad.mit.edu	37	chr1	101458213	101458213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttcttctcctcgtattCtttgattttgaacaatctcc	6	19	5	11	1	4	2	0	2	4	0	7	2	4	2	2	1	1	2	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:101458213C>A	ENST00000370109.3	-	7	726	c.614G>T	c.(613-615)aGa>aTa	p.R205I	DPH5_ENST00000427040.2_Intron|DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000342173.7_Missense_Mutation_p.R205I|DPH5_ENST00000488176.1_Missense_Mutation_p.R205I	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	205					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		TCCTCGTATTCTTTGATTTTG	0.398													A	101458213	C	A	101458213	3	1	364	1	0	0	0	0	1	0	0	0	4762	913	32	4	251	4	DPH5	1	101458213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272067	101458213	147792408	736	24238											
OLFM3	118427	broad.mit.edu	37	chr1	102270305	102270305	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatttgatgatgatattaCtctgatacttgttaaaatag	13	18	7	3	0	1	4	0	4	1	0	1	4	1	4	0	0	2	2	0	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102270305C>A	ENST00000370103.4	-	6	1079	c.866G>T	c.(865-867)aGt>aTt	p.S289I	OLFM3_ENST00000338858.5_Missense_Mutation_p.S309I|OLFM3_ENST00000536598.1_3'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	309	Olfactomedin-like.					extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		GATGATATTACTCTGATACTT	0.433													A	102270305	C	A	102270305	3	1	364	1	0	0	0	0	1	0	0	0	10930	565	20	4	514	4	OLFM3	1	102270305	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	812092	102270305	146980316	737	24239											
OLFM3	118427	broad.mit.edu	37	chr1	102302451	102302451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttttccagtagttggCgaagttgcctgcttttggca	6	15	10	10	1	0	0	0	0	0	0	1	1	1	0	3	2	3	5	3	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:102302451C>T	ENST00000370103.4	-	2	413	c.200G>A	c.(199-201)cGc>cAc	p.R67H	OLFM3_ENST00000359814.3_Missense_Mutation_p.R87H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R87H|OLFM3_ENST00000536598.1_5'UTR|OLFM3_ENST00000462354.1_5'UTR	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	87						extracellular region		p.R67L(1)|p.R87L(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CAGTAGTTGGCGAAGTTGCCT	0.458													T	102302451	C	T	102302451	3	4	364	1	0	0	0	0	1	0	0	0	10930	768	27	1	1196	1	OLFM3	1	102302451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32146	102302451	146948170	738	24240											
COL11A1	1301	broad.mit.edu	37	chr1	103412484	103412484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaccaattgggccagctgtaCctgctgacccacgttctcct	8	10	8	15	1	1	1	0	1	1	0	2	1	1	1	5	1	4	4	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103412484C>T	ENST00000358392.2	-	42	3550	c.3233G>A	c.(3232-3234)gGt>gAt	p.G1078D	COL11A1_ENST00000370096.3_Missense_Mutation_p.G1066D|COL11A1_ENST00000353414.4_Missense_Mutation_p.G1027D|COL11A1_ENST00000512756.1_Missense_Mutation_p.G950D	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1066	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCAGCTGTACCTGCTGACCC	0.463													T	103412484	C	T	103412484	3	4	364	1	0	0	0	0	1	0	0	0	3698	507	18	2	2327	2	COL11A1	1	103412484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110033	103412484	145838137	739	24241											
COL11A1	1301	broad.mit.edu	37	chr1	103431043	103431043	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaagcaaaggaacatacCtgtggtccaaccactccccc	15	6	6	14	0	0	0	0	0	0	0	2	1	2	1	5	2	4	1	5	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103431043C>A	ENST00000358392.2	-	38	3269	c.2952G>T	c.(2950-2952)caG>caT	p.Q984H	COL11A1_ENST00000370096.3_Splice_Site_p.Q972H|COL11A1_ENST00000353414.4_Splice_Site_p.Q933H|COL11A1_ENST00000512756.1_Splice_Site_p.Q856H	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	972	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		AGGAACATACCTGTGGTCCAA	0.378													A	103431043	C	A	103431043	5	1	364	1	0	0	0	0	0	0	1	0	3698	695	24	4	2624	4	COL11A1	1	103431043	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18559	103431043	145819578	740	24242											
COL11A1	1301	broad.mit.edu	37	chr1	103471830	103471830	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccataccctttttccaggTtttcccgttggaccaggggg	6	12	11	12	1	0	0	0	0	0	0	2	1	2	1	5	4	2	2	5	4	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103471830T>A	ENST00000358392.2	-	16	2078	c.1761A>T	c.(1759-1761)aaA>aaT	p.K587N	COL11A1_ENST00000370096.3_Missense_Mutation_p.K575N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K536N|COL11A1_ENST00000461720.1_5'UTR|COL11A1_ENST00000512756.1_Missense_Mutation_p.K459N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	575	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TTTTTCCAGGTTTTCCCGTTG	0.338													A	103471830	T	A	103471830	3	1	364	1	0	0	0	0	1	0	0	0	3698	1722	60	5	3903	5	COL11A1	1	103471830	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40787	103471830	145778791	741	24243											
COL11A1	1301	broad.mit.edu	37	chr1	103548440	103548440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgagcctttagaattCtttctgtttgtgcaaaatcc	9	17	7	8	0	3	2	0	1	3	1	4	2	4	2	2	0	2	3	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:103548440C>A	ENST00000358392.2	-	2	512	c.195G>T	c.(193-195)aaG>aaT	p.K65N	COL11A1_ENST00000370096.3_Missense_Mutation_p.K65N|COL11A1_ENST00000353414.4_Missense_Mutation_p.K65N|COL11A1_ENST00000512756.1_Missense_Mutation_p.K65N	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTTTAGAATTCTTTCTGTTTG	0.358													A	103548440	C	A	103548440	3	1	364	1	0	0	0	0	1	0	0	0	3698	912	32	4	5646	4	COL11A1	1	103548440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76610	103548440	145702181	742	24244											
AMY2B	280	broad.mit.edu	37	chr1	104115752	104115752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagtgcaggaacaagcaGtacctgtggaagttacttca	12	10	12	7	0	1	1	1	1	0	0	1	3	1	3	1	2	5	4	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:104115752G>T	ENST00000361355.4	+	5	999	c.383G>T	c.(382-384)aGt>aTt	p.S128I	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	128					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		GGAACAAGCAGTACCTGTGGA	0.403													T	104115752	G	T	104115752	3	4	364	1	0	0	0	0	1	0	0	0	595	1029	36	4	393	4	AMY2B	1	104115752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	567312	104115752	145134869	743	24245											
PRMT6	55170	broad.mit.edu	37	chr1	107599821	107599821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggatgggctacggactcCtgcacgagtccatgctgagc	8	8	14	11	2	0	1	0	1	0	0	2	4	2	3	2	3	4	3	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:107599821C>A	ENST00000361318.5	+	1	555	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	PRMT6_ENST00000370078.1_Missense_Mutation_p.L162M	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	162					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		CTACGGACTCCTGCACGAGTC	0.652													A	107599821	C	A	107599821	3	1	364	1	0	0	0	0	1	0	0	0	12626	680	24	4	486	4	PRMT6	1	107599821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3484069	107599821	141650800	744	24246											
VAV3	10451	broad.mit.edu	37	chr1	108116774	108116774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcatatctcttgcacaGaagtcataccgagcgatggc	10	11	8	12	2	4	1	2	0	2	1	6	3	4	1	1	1	3	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108116774G>T	ENST00000370056.4	-	26	2671	c.2397C>A	c.(2395-2397)ttC>ttA	p.F799L	VAV3_ENST00000544443.1_Missense_Mutation_p.F203L|VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000415432.2_Missense_Mutation_p.F239L|VAV3_ENST00000527011.1_Missense_Mutation_p.F827L	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	799	SH3 2.				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		CTCTTGCACAGAAGTCATACC	0.428													T	108116774	G	T	108116774	3	4	364	1	0	0	0	0	1	0	0	0	17235	933	33	4	154	4	VAV3	1	108116774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	516953	108116774	141133847	745	24247											
VAV3	10451	broad.mit.edu	37	chr1	108319905	108319905	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcattaatgctttcttCtgttgggaagggcctaggaa	9	15	10	7	0	4	0	2	0	2	0	4	2	4	2	1	3	1	2	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108319905C>A	ENST00000370056.4	-	4	668	c.394G>T	c.(394-396)Gaa>Taa	p.E132*	VAV3_ENST00000343258.4_5'UTR|VAV3_ENST00000371846.4_Nonsense_Mutation_p.E67*|VAV3_ENST00000527011.1_Nonsense_Mutation_p.E132*	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor	132					angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		ATGCTTTCTTCTGTTGGGAAG	0.378													A	108319905	C	A	108319905	4	1	364	1	0	0	0	0	0	1	0	0	17235	922	32	4	2270	4	VAV3	1	108319905	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203131	108319905	140930716	746	24248											
SLC25A24	29957	broad.mit.edu	37	chr1	108700209	108700209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcttccgtgaattcatCtggaatagttaagctatccc	9	15	7	10	2	3	1	1	1	2	0	6	2	5	2	2	1	1	2	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:108700209C>A	ENST00000565488.1	-	5	763	c.544G>T	c.(544-546)Gat>Tat	p.D182Y	SLC25A24_ENST00000370041.4_Missense_Mutation_p.D163Y	NM_013386.4	NP_037518.3	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24	182					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GTGAATTCATCTGGAATAGTT	0.428													A	108700209	C	A	108700209	3	1	364	1	0	0	0	0	1	0	0	0	14581	913	32	4	913	4	SLC25A24	1	108700209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	380304	108700209	140550412	747	24249											
PRPF38B	55119	broad.mit.edu	37	chr1	109241947	109241947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagggagaaagaacggCgaagatcccgaagtattgac	18	4	13	6	3	0	5	0	1	0	4	1	8	1	5	1	2	1	1	1	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109241947C>T	ENST00000370021.1	+	7	1250	c.613C>T	c.(613-615)Cga>Tga	p.R205*	PRPF38B_ENST00000370025.4_Nonsense_Mutation_p.R316*			Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	316					mRNA processing|RNA splicing	spliceosomal complex				NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		GAAAGAACGGCGAAGATCCCG	0.512													T	109241947	C	T	109241947	4	4	364	1	0	0	0	0	0	1	0	0	12654	760	27	1	968	1	PRPF38B	1	109241947	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541738	109241947	140008674	748	24250											
STXBP3	6814	broad.mit.edu	37	chr1	109351454	109351454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttggatgatataaagatGctgaataaacccaaggataa	17	10	9	5	0	0	3	0	2	0	1	0	5	0	5	1	2	2	2	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109351454G>A	ENST00000370008.3	+	19	1784	c.1734G>A	c.(1732-1734)atG>atA	p.M578I		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	578					negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		ATATAAAGATGCTGAATAAAC	0.323													A	109351454	G	A	109351454	3	1	364	1	0	0	0	0	1	0	0	0	15450	1319	46	2	1808	2	STXBP3	1	109351454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109507	109351454	139899167	749	24251											
AKNAD1	254268	broad.mit.edu	37	chr1	109359770	109359770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtgttgcagggtctgagCtgtaggtcatgaaagcctga	9	10	16	6	0	2	3	1	3	1	0	2	3	2	3	1	3	3	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109359770C>A	ENST00000370001.3	-	15	2547	c.2279G>T	c.(2278-2280)aGc>aTc	p.S760I	AKNAD1_ENST00000477908.1_5'UTR	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	760										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGGGTCTGAGCTGTAGGTCAT	0.453													A	109359770	C	A	109359770	3	1	364	1	0	0	0	0	1	0	0	0	464	797	28	4	239	4	AKNAD1	1	109359770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8316	109359770	139890851	750	24252											
AKNAD1	254268	broad.mit.edu	37	chr1	109366029	109366029	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatctaaagaatggggCtggacaaaggcacctctttt	11	12	9	9	0	3	1	1	0	2	1	3	2	3	2	1	4	0	2	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109366029C>T	ENST00000370001.3	-	13	2398	c.2130G>A	c.(2128-2130)caG>caA	p.Q710Q	AKNAD1_ENST00000357393.4_Silent_p.Q417Q|AKNAD1_ENST00000369995.3_Silent_p.Q710Q|AKNAD1_ENST00000369994.1_Silent_p.Q680Q	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	710										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AAGAATGGGGCTGGACAAAGG	0.383													T	109366029	C	T	109366029	2	4	364	1	0	0	0	0	0	0	0	1	464	796	28	2		2	AKNAD1	1	109366029	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6259	109366029	139884592	751	24253											
AKNAD1	254268	broad.mit.edu	37	chr1	109392171	109392171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attagtacctgtgagaagttCttggtggatatgtactatgg	10	15	12	4	0	1	1	0	1	1	1	1	3	1	2	1	3	2	3	1	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109392171C>T	ENST00000370001.3	-	3	1289	c.1021G>A	c.(1021-1023)Gaa>Aaa	p.E341K	AKNAD1_ENST00000357393.4_Missense_Mutation_p.E48K|AKNAD1_ENST00000369995.3_Missense_Mutation_p.E341K|AKNAD1_ENST00000369994.1_Missense_Mutation_p.E341K	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	341										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GTGAGAAGTTCTTGGTGGATA	0.383													T	109392171	C	T	109392171	3	4	364	1	0	0	0	0	1	0	0	0	464	922	32	2	1545	2	AKNAD1	1	109392171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26142	109392171	139858450	752	24254											
AKNAD1	254268	broad.mit.edu	37	chr1	109394328	109394328	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggttcagtgattttccctTtctgctcttgatgttgtttt	5	21	8	7	0	3	2	1	2	2	0	4	2	4	2	1	1	1	4	1	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394328T>C	ENST00000370001.3	-	2	1227	c.959A>G	c.(958-960)aAa>aGa	p.K320R	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.K320R|AKNAD1_ENST00000369994.1_Missense_Mutation_p.K320R	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	320										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						GATTTTCCCTTTCTGCTCTTG	0.408													C	109394328	T	C	109394328	3	2	364	1	0	0	0	0	1	0	0	0	464	1841	64	3	1611	3	AKNAD1	1	109394328	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2157	109394328	139856293	753	24255											
AKNAD1	254268	broad.mit.edu	37	chr1	109394579	109394579	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatttgctttttcagtctgCtgtttctggggtgactgccc	4	17	11	9	0	3	1	1	1	2	0	3	2	3	1	1	2	3	3	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109394579C>A	ENST00000370001.3	-	2	976	c.708G>T	c.(706-708)caG>caT	p.Q236H	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.Q236H|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Q236H	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	236										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTCAGTCTGCTGTTTCTGGG	0.418													A	109394579	C	A	109394579	3	1	364	1	0	0	0	0	1	0	0	0	464	796	28	4	1862	4	AKNAD1	1	109394579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251	109394579	139856042	754	24256											
AKNAD1	254268	broad.mit.edu	37	chr1	109395048	109395048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgtcttttttgttggcaGcattttcagtaattttaccc	6	20	6	9	1	3	0	1	0	2	0	4	0	3	0	1	1	2	4	1	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109395048G>T	ENST00000370001.3	-	2	507	c.239C>A	c.(238-240)gCt>gAt	p.A80D	AKNAD1_ENST00000357393.4_Intron|AKNAD1_ENST00000369995.3_Missense_Mutation_p.A80D|AKNAD1_ENST00000369994.1_Missense_Mutation_p.A80D	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	80										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						TTTGTTGGCAGCATTTTCAGT	0.393													T	109395048	G	T	109395048	3	4	364	1	0	0	0	0	1	0	0	0	464	971	34	4	2331	4	AKNAD1	1	109395048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	109395048	139855573	755	24257											
GPSM2	29899	broad.mit.edu	37	chr1	109445823	109445823	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcatgatcaagcaatgcaTtttgctgaaaagcacttgga	15	11	8	7	0	2	2	2	2	0	0	2	3	2	3	0	1	4	4	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109445823T>A	ENST00000406462.2	+	10	1802	c.1029T>A	c.(1027-1029)caT>caA	p.H343Q	AKNAD1_ENST00000357393.4_Intron|GPSM2_ENST00000264126.3_Missense_Mutation_p.H343Q			P81274	GPSM2_HUMAN	G-protein signaling modulator 2						G-protein coupled receptor protein signaling pathway	cell cortex|nucleus	GTPase activator activity|identical protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)	14		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0353)|Lung(183;0.0984)|COAD - Colon adenocarcinoma(174;0.129)|Epithelial(280;0.175)|all cancers(265;0.209)		AAGCAATGCATTTTGCTGAAA	0.373													A	109445823	T	A	109445823	3	1	364	1	0	0	0	0	1	0	0	0	6790	1490	52	5	1059	5	GPSM2	1	109445823	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50775	109445823	139804798	756	24258											
WDR47	22911	broad.mit.edu	37	chr1	109538268	109538268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccaggattacgaggaGtgcttgtatgaatatttgaa	12	14	11	4	1	0	3	0	3	0	0	1	6	1	5	1	2	2	2	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109538268G>T	ENST00000357672.3	-	7	1916	c.1541C>A	c.(1540-1542)aCt>aAt	p.T514N	WDR47_ENST00000369962.3_Missense_Mutation_p.T542N|WDR47_ENST00000369965.4_Missense_Mutation_p.T543N|WDR47_ENST00000361054.3_Missense_Mutation_p.T514N|WDR47_ENST00000400794.3_Missense_Mutation_p.T550N			O94967	WDR47_HUMAN	WD repeat domain 47	542										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		ATTACGAGGAGTGCTTGTATG	0.388													T	109538268	G	T	109538268	3	4	364	1	0	0	0	0	1	0	0	0	17402	1029	36	4	1166	4	WDR47	1	109538268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92445	109538268	139712353	757	24259											
WDR47	22911	broad.mit.edu	37	chr1	109554001	109554001	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgccaagaagcacttcgcTttctgtaatttcttctccag	9	14	7	11	1	3	1	0	0	3	1	5	2	3	1	2	0	2	3	2	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109554001T>A	ENST00000357672.3	-	4	958	c.583A>T	c.(583-585)Agc>Tgc	p.S195C	WDR47_ENST00000369962.3_Missense_Mutation_p.S223C|WDR47_ENST00000369965.4_Missense_Mutation_p.S223C|WDR47_ENST00000361054.3_Missense_Mutation_p.S195C|WDR47_ENST00000400794.3_Missense_Mutation_p.S230C			O94967	WDR47_HUMAN	WD repeat domain 47	223										breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		AGCACTTCGCTTTCTGTAATT	0.383													A	109554001	T	A	109554001	3	1	364	1	0	0	0	0	1	0	0	0	17402	1609	56	5	2139	5	WDR47	1	109554001	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15733	109554001	139696620	758	24260											
KIAA1324	57535	broad.mit.edu	37	chr1	109707189	109707189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagccatgcgctgagggcCgctactccctcggcacaggc	7	6	13	15	3	0	1	0	1	0	0	2	1	1	1	3	3	3	4	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707189C>T	ENST00000369939.3	+	3	526	c.343C>T	c.(343-345)Cgc>Tgc	p.R115C	KIAA1324_ENST00000529753.1_Missense_Mutation_p.R115C	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	115					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGCTGAGGGCCGCTACTCCCT	0.587													T	109707189	C	T	109707189	3	4	364	1	0	0	0	0	1	0	0	0	8281	652	23	1	353	1	KIAA1324	1	109707189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153188	109707189	139543432	759	24261											
KIAA1324	57535	broad.mit.edu	37	chr1	109707210	109707210	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactccctcggcacaggcAttcggtttgatgagtgggat	7	11	13	10	2	0	2	0	2	0	0	3	3	1	3	1	4	1	4	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109707210A>G	ENST00000369939.3	+	3	547	c.364A>G	c.(364-366)Att>Gtt	p.I122V	KIAA1324_ENST00000529753.1_Missense_Mutation_p.I122V	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	122					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		CGGCACAGGCATTCGGTTTGA	0.577													G	109707210	A	G	109707210	3	3	364	1	0	0	0	0	1	0	0	0	8281	217	8	3	374	3	KIAA1324	1	109707210	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21	109707210	139543411	760	24262											
KIAA1324	57535	broad.mit.edu	37	chr1	109714636	109714636	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcatctttgagtttttcGtaagcccctggccaaggtgg	7	13	11	10	1	2	1	1	1	1	0	3	1	2	1	3	3	1	3	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109714636G>A	ENST00000369939.3	+	4	798		c.e4+1		KIAA1324_ENST00000529753.1_Splice_Site	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324						macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TGAGTTTTTCGTAAGCCCCTG	0.507													A	109714636	G	A	109714636	5	1	364	1	0	0	0	0	0	0	1	0	8281	1159	40	1	630	1	KIAA1324	1	109714636	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7426	109714636	139535985	761	24263											
KIAA1324	57535	broad.mit.edu	37	chr1	109740233	109740233	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgacaggctacaaggcCggggtttcctcacagcctgt	8	8	14	11	1	1	1	1	1	0	0	2	2	2	1	3	5	2	2	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109740233C>A	ENST00000369939.3	+	16	2442	c.2259C>A	c.(2257-2259)gcC>gcA	p.A753A	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Silent_p.A666A	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	753					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		GCTACAAGGCCGGGGTTTCCT	0.552													A	109740233	C	A	109740233	2	1	364	1	0	0	0	0	0	0	0	1	8281	639	23	4		4	KIAA1324	1	109740233	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25597	109740233	139510388	762	24264											
SARS	6301	broad.mit.edu	37	chr1	109778673	109778673	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagatgattaccaccgcAgaggagttctaccagtccct	12	8	10	11	1	1	3	0	1	1	2	2	6	2	4	4	1	2	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109778673A>T	ENST00000369923.4	+	8	1055	c.1044A>T	c.(1042-1044)gcA>gcT	p.A348A	SARS_ENST00000234677.2_Silent_p.A348A			P49591	SYSC_HUMAN	seryl-tRNA synthetase	348					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TTACCACCGCAGAGGAGTTCT	0.493													T	109778673	A	T	109778673	2	4	364	1	0	0	0	0	0	0	0	1	13936	175	7	5		5	SARS	1	109778673	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38440	109778673	139471948	763	24265											
CELSR2	1952	broad.mit.edu	37	chr1	109793483	109793483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcttcagggtcacggCgcaggaccacggcatgcccc	7	5	12	17	4	3	0	2	0	1	0	3	1	3	1	4	4	1	2	4	4	0	1	rs41279702		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109793483C>T	ENST00000271332.3	+	1	843	c.782C>T	c.(781-783)gCg>gTg	p.A261V		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	261	Cadherin 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		AGGGTCACGGCGCAGGACCAC	0.587													T	109793483	C	T	109793483	3	4	364	1	0	0	0	0	1	0	0	0	3252	768	27	1	784	1	CELSR2	1	109793483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14810	109793483	139457138	764	24266											
CELSR2	1952	broad.mit.edu	37	chr1	109794054	109794054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacagttttatctggatgcCcagactggagctctggatgt	8	12	13	8	0	2	1	0	0	2	1	2	5	2	5	1	4	2	2	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794054C>T	ENST00000271332.3	+	1	1414	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	451	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		ATCTGGATGCCCAGACTGGAG	0.572													T	109794054	C	T	109794054	2	4	364	1	0	0	0	0	0	0	0	1	3252	610	22	2		2	CELSR2	1	109794054	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571	109794054	139456567	765	24267											
CELSR2	1952	broad.mit.edu	37	chr1	109794125	109794125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtacaccctacgggtgcGagcacaggatggtggccgtc	8	6	16	11	3	0	0	0	0	0	0	1	3	0	2	2	5	4	2	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109794125G>A	ENST00000271332.3	+	1	1485	c.1424G>A	c.(1423-1425)cGa>cAa	p.R475Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	475	Cadherin 3.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CTACGGGTGCGAGCACAGGAT	0.557													A	109794125	G	A	109794125	3	1	364	1	0	0	0	0	1	0	0	0	3252	1058	37	1	1426	1	CELSR2	1	109794125	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71	109794125	139456496	766	24268											
CELSR2	1952	broad.mit.edu	37	chr1	109795063	109795063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaccctggccattactgctCgggacaatggcattccccag	9	8	9	15	1	0	0	0	0	0	0	2	1	1	1	4	3	2	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795063C>T	ENST00000271332.3	+	1	2423	c.2362C>T	c.(2362-2364)Cgg>Tgg	p.R788W		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	788	Cadherin 6.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CATTACTGCTCGGGACAATGG	0.572													T	109795063	C	T	109795063	3	4	364	1	0	0	0	0	1	0	0	0	3252	875	31	1	2364	1	CELSR2	1	109795063	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	938	109795063	139455558	767	24269											
CELSR2	1952	broad.mit.edu	37	chr1	109795318	109795318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtccacgtcaggcatcGtgcgaacgctacggaggctg	8	8	14	11	5	1	1	1	1	0	0	3	3	2	2	1	3	3	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795318G>A	ENST00000271332.3	+	1	2678	c.2617G>A	c.(2617-2619)Gtg>Atg	p.V873M		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	873	Cadherin 7.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCAGGCATCGTGCGAACGCT	0.562													A	109795318	G	A	109795318	3	1	364	1	0	0	0	0	1	0	0	0	3252	1145	40	1	2619	1	CELSR2	1	109795318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255	109795318	139455303	768	24270											
CELSR2	1952	broad.mit.edu	37	chr1	109795676	109795676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacgaggaccggcctgagtAcgtcctggtcatccaggcca	8	7	12	14	3	1	1	1	1	0	0	3	3	3	2	5	4	2	1	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795676A>G	ENST00000271332.3	+	1	3036	c.2975A>G	c.(2974-2976)tAc>tGc	p.Y992C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	992	Cadherin 8.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCCTGAGTACGTCCTGGTC	0.602													G	109795676	A	G	109795676	3	3	364	1	0	0	0	0	1	0	0	0	3252	391	14	3	2977	3	CELSR2	1	109795676	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	358	109795676	139454945	769	24271											
CELSR2	1952	broad.mit.edu	37	chr1	109795908	109795908	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctttgagcggggaaatgaActcagcctggtcctgctcaa	10	9	12	10	1	2	2	2	2	0	0	3	3	3	3	2	3	5	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109795908A>G	ENST00000271332.3	+	1	3268	c.3207A>G	c.(3205-3207)gaA>gaG	p.E1069E		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1069	Cadherin 9.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGGGAAATGAACTCAGCCTGG	0.577													G	109795908	A	G	109795908	2	3	364	1	0	0	0	0	0	0	0	1	3252	40	2	3		3	CELSR2	1	109795908	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	232	109795908	139454713	770	24272											
CELSR2	1952	broad.mit.edu	37	chr1	109803708	109803708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcaggccgttgcaccccgGgtgtctgcaagaatgggggc	6	7	16	12	2	2	1	1	0	1	1	2	1	2	1	3	4	2	4	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109803708G>T	ENST00000271332.3	+	3	4064	c.4003G>T	c.(4003-4005)Ggt>Tgt	p.G1335C		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1335	EGF-like 3; calcium-binding.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCACCCCGGGTGTCTGCAA	0.592													T	109803708	G	T	109803708	3	4	364	1	0	0	0	0	1	0	0	0	3252	1232	43	4	4013	4	CELSR2	1	109803708	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7800	109803708	139446913	771	24273											
CELSR2	1952	broad.mit.edu	37	chr1	109804139	109804139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaactcctgttcaggtttGccacaaaggagcgcgacggg	9	7	12	13	3	1	0	1	0	0	0	2	2	2	1	3	3	3	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109804139G>A	ENST00000271332.3	+	4	4247	c.4186G>A	c.(4186-4188)Gcc>Acc	p.A1396T		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1396	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTTCAGGTTTGCCACAAAGGA	0.602													A	109804139	G	A	109804139	3	1	364	1	0	0	0	0	1	0	0	0	3252	1319	46	2	4200	2	CELSR2	1	109804139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	431	109804139	139446482	772	24274											
CELSR2	1952	broad.mit.edu	37	chr1	109812366	109812366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctgtgaagtcgtcttccGcaatgagagccacgtcagct	9	9	12	11	3	2	2	1	2	1	1	4	3	3	2	2	1	2	3	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109812366G>A	ENST00000271332.3	+	22	7092	c.7031G>A	c.(7030-7032)cGc>cAc	p.R2344H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2344	GPS.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GTCGTCTTCCGCAATGAGAGC	0.632													A	109812366	G	A	109812366	3	1	364	1	0	0	0	0	1	0	0	0	3252	1087	38	1	7117	1	CELSR2	1	109812366	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8227	109812366	139438255	773	24275											
PSRC1	84722	broad.mit.edu	37	chr1	109823528	109823528	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggctggtgagtggcattcGgctggcaggcctggggatgg	4	8	20	9	2	0	1	0	1	0	0	1	2	0	2	2	9	0	4	2	9	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109823528G>A	ENST00000438534.2	-	5	1003	c.865C>T	c.(865-867)Cga>Tga	p.R289*	PSRC1_ENST00000369909.2_Nonsense_Mutation_p.R259*|PSRC1_ENST00000409138.2_Nonsense_Mutation_p.R289*|PSRC1_ENST00000409267.1_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369904.3_Missense_Mutation_p.P225L|PSRC1_ENST00000369907.3_Nonsense_Mutation_p.R259*|PSRC1_ENST00000369903.2_Nonsense_Mutation_p.R259*	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	289	Pro/Ser-rich.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		AGTGGCATTCGGCTGGCAGGC	0.612													A	109823528	G	A	109823528	4	1	364	1	0	0	0	0	0	1	0	0	12804	1125	39	1	270	1	PSRC1	1	109823528	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11162	109823528	139427093	774	24276											
PSRC1	84722	broad.mit.edu	37	chr1	109824315	109824315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcctatcattactccGgagtcgaggcgtcaggctgc	6	10	10	15	3	2	0	2	0	0	0	5	2	4	1	4	3	2	1	4	3	2	3	rs116061288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109824315G>A	ENST00000438534.2	-	4	583	c.445C>T	c.(445-447)Cgg>Tgg	p.R149W	PSRC1_ENST00000369909.2_Missense_Mutation_p.R149W|PSRC1_ENST00000409138.2_Missense_Mutation_p.R149W|PSRC1_ENST00000409267.1_Missense_Mutation_p.R149W|PSRC1_ENST00000369904.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369907.3_Missense_Mutation_p.R149W|PSRC1_ENST00000369903.2_Missense_Mutation_p.R149W	NM_001005290.3	NP_001005290.1	Q6PGN9	PSRC1_HUMAN	proline/serine-rich coiled-coil 1	149	4 X 4 AA repeats of P-X-X-P.				cell division|microtubule bundle formation|mitotic metaphase plate congression|negative regulation of cell growth|positive regulation of microtubule polymerization|positive regulation of transcription, DNA-dependent|regulation of mitotic spindle organization	cytosol|midbody|spindle pole	microtubule binding			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	7		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0286)|Lung(183;0.0658)|COAD - Colon adenocarcinoma(174;0.112)|Epithelial(280;0.188)|all cancers(265;0.213)		TCATTACTCCGGAGTCGAGGC	0.577													A	109824315	G	A	109824315	3	1	364	1	0	0	0	0	1	0	0	0	12804	1115	39	1	637	1	PSRC1	1	109824315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	787	109824315	139426306	775	24277											
MYBPHL	343263	broad.mit.edu	37	chr1	109838869	109838869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacccggggagaggcgCggacacagcagaagagctgg	11	2	16	12	3	1	3	1	0	0	3	1	5	1	4	1	5	2	2	1	5	1	0	rs143483325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109838869C>T	ENST00000357155.1	-	6	903	c.854G>A	c.(853-855)cGc>cAc	p.R285H	MYBPHL_ENST00000477962.1_Intron	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	285	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		GGGAGAGGCGCGGACACAGCA	0.577													T	109838869	C	T	109838869	3	4	364	1	0	0	0	0	1	0	0	0	10091	768	27	1	222	1	MYBPHL	1	109838869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14554	109838869	139411752	776	24278											
SORT1	6272	broad.mit.edu	37	chr1	109870142	109870142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagcaatgacaatgcctaCggcattcggctctgagagtg	11	9	12	9	2	1	3	0	3	1	1	2	4	1	3	1	2	3	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:109870142C>T	ENST00000256637.6	-	12	1511	c.1453G>A	c.(1453-1455)Gta>Ata	p.V485I	SORT1_ENST00000538502.1_Missense_Mutation_p.V348I	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	485					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTACGGCATTCGGC	0.498													T	109870142	C	T	109870142	3	4	364	1	0	0	0	0	1	0	0	0	15029	536	19	1	1078	1	SORT1	1	109870142	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31273	109870142	139380479	777	24279											
SYPL2	284612	broad.mit.edu	37	chr1	110019486	110019486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggacttctctgcacccGccgagttcttcgtgaccctt	4	12	11	14	3	2	1	0	1	2	0	4	3	2	2	3	2	1	2	3	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110019486G>A	ENST00000369872.3	+	4	559	c.343G>A	c.(343-345)Gcc>Acc	p.A115T	SYPL2_ENST00000401021.3_Missense_Mutation_p.A115T	NM_001040709.1	NP_001035799.1	Q5VXT5	SYPL2_HUMAN	synaptophysin-like 2	115	MARVEL.					integral to membrane|synaptic vesicle	transporter activity			breast(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0436)|READ - Rectum adenocarcinoma(129;0.0698)|Epithelial(280;0.0808)|all cancers(265;0.0869)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTCTGCACCCGCCGAGTTCTT	0.537													A	110019486	G	A	110019486	3	1	364	1	0	0	0	0	1	0	0	0	15560	1087	38	1	357	1	SYPL2	1	110019486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149344	110019486	139231135	778	24280											
ATXN7L2	127002	broad.mit.edu	37	chr1	110032686	110032686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagtgaggaggaggggaCatctgacgacctccacccac	12	4	14	11	1	1	3	0	2	1	1	2	8	2	6	3	4	0	0	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032686C>T	ENST00000369870.3	+	8	1187	c.1172C>T	c.(1171-1173)aCa>aTa	p.T391I		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	391										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		GAGGAGGGGACATCTGACGAC	0.672													T	110032686	C	T	110032686	3	4	364	1	0	0	0	0	1	0	0	0	1222	478	17	2	1202	2	ATXN7L2	1	110032686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13200	110032686	139217935	779	24281											
ATXN7L2	127002	broad.mit.edu	37	chr1	110032730	110032730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgccattatgcaaccCggcccccacggccacaggcg	8	5	10	18	3	0	1	0	1	0	0	0	1	0	1	5	3	3	1	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110032730C>T	ENST00000369870.3	+	8	1231	c.1216C>T	c.(1216-1218)Cgg>Tgg	p.R406W		NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	406										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		TTATGCAACCCGGCCCCCACG	0.667													T	110032730	C	T	110032730	3	4	364	1	0	0	0	0	1	0	0	0	1222	643	23	1	1246	1	ATXN7L2	1	110032730	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44	110032730	139217891	780	24282											
AMIGO1	57463	broad.mit.edu	37	chr1	110050173	110050173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctggcttgagcttgccGttttgaccctgcccaggtcc	3	13	11	14	1	0	2	0	2	0	0	1	2	1	2	5	2	4	3	5	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050173G>A	ENST00000369864.4	-	2	1711	c.1362C>T	c.(1360-1362)aaC>aaT	p.N454N	AMIGO1_ENST00000369862.1_Silent_p.N454N			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	454				N -> S (in Ref. 4; AAH40879).	axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGCTTGCCGTTTTGACCCT	0.592													A	110050173	G	A	110050173	2	1	364	1	0	0	0	0	0	0	0	1	575	1136	40	1		1	AMIGO1	1	110050173	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17443	110050173	139200448	781	24283											
AMIGO1	57463	broad.mit.edu	37	chr1	110050380	110050380	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tataggtatatgaggaccagGaccacactaaggatacagcc	15	7	10	9	0	0	1	0	1	0	0	0	4	0	4	3	4	2	1	3	4	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050380G>A	ENST00000369864.4	-	2	1504	c.1155C>T	c.(1153-1155)gtC>gtT	p.V385V	AMIGO1_ENST00000369862.1_Silent_p.V385V			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	385					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		TGAGGACCAGGACCACACTAA	0.537													A	110050380	G	A	110050380	2	1	364	1	0	0	0	0	0	0	0	1	575	1161	41	2		2	AMIGO1	1	110050380	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207	110050380	139200241	782	24284											
AMIGO1	57463	broad.mit.edu	37	chr1	110050768	110050768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agacattgtgcagcttcttgGagttcatgcagtacagatcc	10	12	10	9	0	2	2	1	0	1	2	3	3	3	3	1	1	4	5	1	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110050768G>T	ENST00000369864.4	-	2	1116	c.767C>A	c.(766-768)tCc>tAc	p.S256Y	AMIGO1_ENST00000369862.1_Missense_Mutation_p.S256Y			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	256	LRRCT.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CAGCTTCTTGGAGTTCATGCA	0.527													T	110050768	G	T	110050768	3	4	364	1	0	0	0	0	1	0	0	0	575	1174	41	4	718	4	AMIGO1	1	110050768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	388	110050768	139199853	783	24285											
GPR61	83873	broad.mit.edu	37	chr1	110086628	110086628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggagagtgtggtcacctgGattggctacttttgcttcac	6	14	13	8	0	2	1	2	0	0	1	2	3	2	2	1	4	2	2	1	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086628G>T	ENST00000527748.1	+	2	1667	c.984G>T	c.(982-984)tgG>tgT	p.W328C		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	328						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TGGTCACCTGGATTGGCTACT	0.522													T	110086628	G	T	110086628	3	4	364	1	0	0	0	0	1	0	0	0	6756	1183	41	4	986	4	GPR61	1	110086628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35860	110086628	139163993	784	24286											
GPR61	83873	broad.mit.edu	37	chr1	110086836	110086836	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgagtcctgggtttccCgacccctacccagccccaag	6	9	8	18	1	1	1	0	1	1	0	3	2	3	1	7	1	2	1	7	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110086836C>T	ENST00000527748.1	+	2	1875	c.1192C>T	c.(1192-1194)Cga>Tga	p.R398*		NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	398						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTGGGTTTCCCGACCCCTACC	0.597													T	110086836	C	T	110086836	4	4	364	1	0	0	0	0	0	1	0	0	6756	644	23	1	1194	1	GPR61	1	110086836	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208	110086836	139163785	785	24287											
AMPD2	271	broad.mit.edu	37	chr1	110169414	110169414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgctcttcatccgggagaagTacatggccctgtccctgcag	7	9	11	14	2	2	1	1	0	1	1	4	2	4	1	3	2	2	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110169414T>C	ENST00000256578.3	+	6	1120	c.760T>C	c.(760-762)Tac>Cac	p.Y254H	AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000358729.4_Missense_Mutation_p.Y179H|AMPD2_ENST00000342115.4_Missense_Mutation_p.Y173H|AMPD2_ENST00000528454.1_Missense_Mutation_p.Y136H|AMPD2_ENST00000393688.3_Missense_Mutation_p.Y135H|AMPD2_ENST00000528667.1_Missense_Mutation_p.Y254H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	254					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCGGGAGAAGTACATGGCCCT	0.612													C	110169414	T	C	110169414	3	2	364	1	0	0	0	0	1	0	0	0	586	1638	57	3	823	3	AMPD2	1	110169414	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82578	110169414	139081207	786	24288											
GSTM5	2949	broad.mit.edu	37	chr1	110260004	110260004	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtccagccaattcctcCgaggtcttttgtttggaaag	9	13	10	9	1	1	1	0	1	1	0	4	3	4	2	4	2	1	1	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110260004C>T	ENST00000369812.5	+	8	741	c.670C>T	c.(670-672)Cga>Tga	p.R224*	GSTM5_ENST00000256593.3_Nonsense_Mutation_p.R205*|GSTM5_ENST00000369813.1_3'UTR|GSTM5_ENST00000492718.1_3'UTR			P46439	GSTM5_HUMAN	glutathione S-transferase mu 5	205					xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			NS(1)|central_nervous_system(6)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	21		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Colorectal(144;0.0131)|all cancers(265;0.0252)|Epithelial(280;0.0265)|Lung(183;0.0425)|COAD - Colon adenocarcinoma(174;0.0474)|LUSC - Lung squamous cell carcinoma(189;0.228)	Glutathione(DB00143)	CCAATTCCTCCGAGGTCTTTT	0.547													T	110260004	C	T	110260004	4	4	364	1	0	0	0	0	0	1	0	0	6896	644	23	1	643	1	GSTM5	1	110260004	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90590	110260004	138990617	787	24289											
EPS8L3	79574	broad.mit.edu	37	chr1	110293362	110293362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagcatctgtagctccccagGtcttatgcgaagtagctggc	8	11	11	11	1	2	0	0	0	2	0	3	1	3	0	2	2	4	5	2	2	5	4	rs78041550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110293362G>A	ENST00000369805.3	-	18	1922	c.1693C>T	c.(1693-1695)Cct>Tct	p.P565S	EPS8L3_ENST00000361852.4_Missense_Mutation_p.P534S|EPS8L3_ENST00000361965.4_Missense_Mutation_p.P564S|RP4-735C1.4_ENST00000431955.1_RNA	NM_139053.2	NP_620641.1	Q8TE67	ES8L3_HUMAN	EPS8-like 3	564						cytoplasm	protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		AGCTCCCCAGGTCTTATGCGA	0.607													A	110293362	G	A	110293362	3	1	364	1	0	0	0	0	1	0	0	0	5238	1261	44	2	99	2	EPS8L3	1	110293362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33358	110293362	138957259	788	24290											
ALX3	257	broad.mit.edu	37	chr1	110607237	110607237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcctcagtcaggtctgtgCgcagggccagctgctcccgg	4	7	16	14	2	3	0	2	0	1	0	4	0	4	0	3	4	3	3	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110607237C>T	ENST00000369792.4	-	2	653	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_006492.2	NP_006483.2	O95076	ALX3_HUMAN	ALX homeobox 3	189						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(81;2.35e-05)|all_epithelial(167;7.69e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.015)|all cancers(265;0.0706)|Epithelial(280;0.0758)|Colorectal(144;0.113)|LUSC - Lung squamous cell carcinoma(189;0.135)		CAGGTCTGTGCGCAGGGCCAG	0.592													T	110607237	C	T	110607237	3	4	364	1	0	0	0	0	1	0	0	0	557	768	27	1	477	1	ALX3	1	110607237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	313875	110607237	138643384	789	24291											
UBL4B	164153	broad.mit.edu	37	chr1	110655424	110655424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagccgcagacccagcccCtgtggcaccagctgggactg	8	4	12	17	1	0	1	0	0	0	1	0	2	0	2	6	2	3	3	6	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110655424C>A	ENST00000334179.3	+	1	363	c.268C>A	c.(268-270)Ctg>Atg	p.L90M		NM_203412.1	NP_981957.1	Q8N7F7	UBL4B_HUMAN	ubiquitin-like 4B	90						cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	7		all_cancers(81;1.14e-05)|all_epithelial(167;3.23e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0236)|all cancers(265;0.0823)|Epithelial(280;0.0917)|Colorectal(144;0.109)|LUSC - Lung squamous cell carcinoma(189;0.134)		GACCCAGCCCCTGTGGCACCA	0.592													A	110655424	C	A	110655424	3	1	364	1	0	0	0	0	1	0	0	0	16990	680	24	4	270	4	UBL4B	1	110655424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48187	110655424	138595197	790	24292											
SLC6A17	388662	broad.mit.edu	37	chr1	110717534	110717534	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgtgcctcctcgtggcctgGagcatcgtggggatggctgt	3	11	16	11	2	0	0	0	0	0	0	3	2	1	2	3	5	2	2	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110717534G>A	ENST00000331565.4	+	5	1190	c.705G>A	c.(703-705)tgG>tgA	p.W235*		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	235					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		TCGTGGCCTGGAGCATCGTGG	0.602													A	110717534	G	A	110717534	4	1	364	1	0	0	0	0	0	1	0	0	14774	1183	41	2	719	2	SLC6A17	1	110717534	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62110	110717534	138533087	791	24293											
RBM15	64783	broad.mit.edu	37	chr1	110883957	110883957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcctaggaagcgaaggCtgcctgaggagagtggagga	12	4	17	8	1	0	2	0	1	0	1	0	7	0	5	3	5	3	1	3	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110883957C>A	ENST00000369784.3	+	1	2830	c.1930C>A	c.(1930-1932)Ctg>Atg	p.L644M	RBM15_ENST00000487146.2_Missense_Mutation_p.L644M|RBM15_ENST00000602849.1_Missense_Mutation_p.L644M	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	644	Arg-rich.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GAAGCGAAGGCTGCCTGAGGA	0.587			T	MKL1	acute megakaryocytic leukemia								A	110883957	C	A	110883957	3	1	364	1	0	0	0	0	1	0	0	0	13204	796	28	4	1932	4	RBM15	1	110883957	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166423	110883957	138366664	792	24294											
RBM15	64783	broad.mit.edu	37	chr1	110884569	110884569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggatgaagtaactcgaCgcatcaaagtagcagggccc	13	7	12	9	2	1	1	1	1	0	0	2	3	1	2	1	2	2	5	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110884569C>T	ENST00000369784.3	+	1	3442	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	RBM15_ENST00000487146.2_Missense_Mutation_p.R848C|RBM15_ENST00000602849.1_Missense_Mutation_p.R848C	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	848	SPOC.				interspecies interaction between organisms	nucleus	nucleotide binding|protein binding|RNA binding			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		AGTAACTCGACGCATCAAAGT	0.532			T	MKL1	acute megakaryocytic leukemia								T	110884569	C	T	110884569	3	4	364	1	0	0	0	0	1	0	0	0	13204	536	19	1	2544	1	RBM15	1	110884569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	612	110884569	138366052	793	24295											
SLC16A4	9122	broad.mit.edu	37	chr1	110919640	110919640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatggtgtaggtcataaGtagtggaaatgtggtggcta	11	11	16	3	0	1	1	1	0	0	1	1	2	1	2	0	5	0	4	0	5	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110919640G>T	ENST00000369779.4	-	7	1423	c.1174C>A	c.(1174-1176)Ctt>Att	p.L392I	SLC16A4_ENST00000472422.2_Missense_Mutation_p.L344I|SLC16A4_ENST00000437429.2_Missense_Mutation_p.L282I|SLC16A4_ENST00000541986.1_Missense_Mutation_p.L330I|SLC16A4_ENST00000369781.4_Missense_Mutation_p.L224I	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	392						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	TAGGTCATAAGTAGTGGAAAT	0.433													T	110919640	G	T	110919640	3	4	364	1	0	0	0	0	1	0	0	0	14504	1029	36	4	301	4	SLC16A4	1	110919640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35071	110919640	138330981	794	24296											
SLC16A4	9122	broad.mit.edu	37	chr1	110921953	110921953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggcaccaaattcaatgcGatagctccaaataatataag	18	8	7	8	1	1	0	1	0	0	0	2	2	2	0	2	1	2	2	2	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:110921953G>A	ENST00000369779.4	-	6	801	c.552C>T	c.(550-552)atC>atT	p.I184I	SLC16A4_ENST00000497687.1_5'UTR|SLC16A4_ENST00000472422.2_Silent_p.I136I|SLC16A4_ENST00000437429.2_Silent_p.I74I|SLC16A4_ENST00000541986.1_Silent_p.I122I|SLC16A4_ENST00000369781.4_Intron	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	184						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	AATTCAATGCGATAGCTCCAA	0.378													A	110921953	G	A	110921953	2	1	364	1	0	0	0	0	0	0	0	1	14504	1048	37	1		1	SLC16A4	1	110921953	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2313	110921953	138328668	795	24297											
KCNA10	3744	broad.mit.edu	37	chr1	111060438	111060438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcactcggctctgtctcctgGactagctctgtgatgagagt	6	12	12	11	1	3	2	0	2	3	1	5	4	3	3	1	2	1	3	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060438G>A	ENST00000369771.2	-	1	1359	c.972C>T	c.(970-972)gtC>gtT	p.V324V		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	324						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		CTGTCTCCTGGACTAGCTCTG	0.527													A	111060438	G	A	111060438	2	1	364	1	0	0	0	0	0	0	0	1	8060	1161	41	2		2	KCNA10	1	111060438	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138485	111060438	138190183	796	24298											
KCNA10	3744	broad.mit.edu	37	chr1	111060704	111060704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccggaactctggcagtgtctCcaggcagaagatggtgatgg	9	8	15	9	1	2	3	0	1	2	2	3	4	2	4	2	5	1	2	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111060704C>T	ENST00000369771.2	-	1	1093	c.706G>A	c.(706-708)Gag>Aag	p.E236K		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	236						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GGCAGTGTCTCCAGGCAGAAG	0.562													T	111060704	C	T	111060704	3	4	364	1	0	0	0	0	1	0	0	0	8060	864	30	2	833	2	KCNA10	1	111060704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266	111060704	138189917	797	24299											
KCNA3	3738	broad.mit.edu	37	chr1	111216892	111216892	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagaagcggatctcctcggaGaaaatgtcgatgggcacgtt	11	9	13	8	4	1	2	0	0	1	2	4	5	1	3	1	3	1	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111216892G>A	ENST00000369769.2	-	1	763	c.540C>T	c.(538-540)ttC>ttT	p.F180F		NM_002232.3	NP_002223.3	P22001	KCNA3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 3	180						voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(7)|ovary(4)|pancreas(1)|prostate(3)|skin(1)	38		all_cancers(81;3.92e-06)|all_epithelial(167;1.28e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Lung(183;0.0235)|Colorectal(144;0.0306)|all cancers(265;0.0752)|Epithelial(280;0.0821)|COAD - Colon adenocarcinoma(174;0.132)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCTCCTCGGAGAAAATGTCGA	0.657													A	111216892	G	A	111216892	2	1	364	1	0	0	0	0	0	0	0	1	8062	933	33	2		2	KCNA3	1	111216892	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156188	111216892	138033729	798	24300											
CEPT1	10390	broad.mit.edu	37	chr1	111726101	111726101	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggttgcacacatgacgaaAagtgaaatgcatttgcatga	15	10	10	6	1	0	3	0	3	0	0	0	4	0	3	0	1	3	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111726101A>G	ENST00000545121.1	+	8	1231	c.1023A>G	c.(1021-1023)aaA>aaG	p.K341K	CEPT1_ENST00000357172.4_Silent_p.K341K|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	341						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	ACATGACGAAAAGTGAAATGC	0.348													G	111726101	A	G	111726101	2	3	364	1	0	0	0	0	0	0	0	1	3294	11	1	3		3	CEPT1	1	111726101	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	509209	111726101	137524520	799	24301											
OVGP1	5016	broad.mit.edu	37	chr1	111957148	111957148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttagagaaagaggacttgTttgaggggttactgagttga	11	14	14	2	0	0	5	0	3	0	2	0	7	0	6	0	3	1	3	0	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111957148T>C	ENST00000369732.3	-	11	2030	c.1975A>G	c.(1975-1977)Aca>Gca	p.T659A		NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	659					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		AGAGGACTTGTTTGAGGGGTT	0.473													C	111957148	T	C	111957148	3	2	364	1	0	0	0	0	1	0	0	0	11401	1725	60	3	65	3	OVGP1	1	111957148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	231047	111957148	137293473	800	24302											
WDR77	79084	broad.mit.edu	37	chr1	111989719	111989719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgaaagaatactcacctCggtatgaactcagtaccacc	16	8	6	11	1	2	3	2	2	0	1	3	3	2	3	3	1	3	2	3	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:111989719C>T	ENST00000235090.5	-	4	697	c.491G>A	c.(490-492)cGa>cAa	p.R164Q	WDR77_ENST00000411751.2_Intron|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	164					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		ATACTCACCTCGGTATGAACT	0.398													T	111989719	C	T	111989719	3	4	364	1	0	0	0	0	1	0	0	0	17429	884	31	1	565	1	WDR77	1	111989719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32571	111989719	137260902	801	24303											
C1orf162	128346	broad.mit.edu	37	chr1	112019956	112019957	+	Splice_Site	INS	-	-	A																															cctttctttgccaaaacagcINSaaaaaacatttaatccttgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112019956_112019957insA	ENST00000343534.5	+	4	358_359	c.108_109insA	c.(109-111)aaa>Aaaa	p.K37fs	C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Splice_Site_p.K37fs	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162	37						integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCCAAAACAGCAAAAAACATTT	0.431													A	112019957	-	A	112019956	8	5	364	1	0	1	1	0	0	0	1	0	2030	724	25	0	118	0	C1orf162	1	112019956	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	30237	112019956	137230665	802	24304											
C1orf162	128346	broad.mit.edu	37	chr1	112020051	112020051	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaagagctacagaaaatGtaagtggtctccaagggata	17	8	10	6	0	1	2	0	0	1	2	2	3	1	3	1	2	2	2	1	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112020051G>A	ENST00000343534.5	+	4	452		c.e4+1		C1orf162_ENST00000464591.1_Intron|C1orf162_ENST00000369718.3_Splice_Site	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162							integral to membrane				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		TACAGAAAATGTAAGTGGTCT	0.448													A	112020051	G	A	112020051	5	1	364	1	0	0	0	0	0	0	1	0	2030	1391	48	2	213	2	C1orf162	1	112020051	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	112020051	137230570	803	24305											
ADORA3	140	broad.mit.edu	37	chr1	112045664	112045664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcaagtatcggtccacagCgatggccagcaaggacatga	12	5	12	12	3	0	1	0	1	0	0	2	3	1	2	3	3	2	3	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045664C>T	ENST00000241356.4	-	1	718	c.313G>A	c.(313-315)Gct>Act	p.A105T	ADORA3_ENST00000369716.4_Missense_Mutation_p.A105T|ADORA3_ENST00000369717.4_Intron|ADORA3_ENST00000486342.1_5'UTR	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	105			A -> T (in a colorectal cancer sample; somatic mutation).		activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled	p.A105T(1)		NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CGGTCCACAGCGATGGCCAGC	0.552													T	112045664	C	T	112045664	3	4	364	1	0	0	0	0	1	0	0	0	329	768	27	1	1365	1	ADORA3	1	112045664	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25613	112045664	137204957	804	24306											
ADORA3	140	broad.mit.edu	37	chr1	112045919	112045919	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcgcagagtccaatgaaaaTttccatggtgatgtaggtaa	13	10	12	6	1	0	3	0	2	0	1	2	3	2	3	2	3	0	3	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112045919T>G	ENST00000241356.4	-	1	463	c.58A>C	c.(58-60)Att>Ctt	p.I20L	ADORA3_ENST00000369716.4_Missense_Mutation_p.I20L|ADORA3_ENST00000369717.4_Intron	NM_000677.3	NP_000668.1	P33765	AA3R_HUMAN	adenosine A3 receptor	20					activation of adenylate cyclase activity|inflammatory response|regulation of heart contraction	integral to plasma membrane	adenosine receptor activity, G-protein coupled			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|skin(1)	12		all_cancers(81;1.63e-06)|all_epithelial(167;5.01e-06)|all_lung(203;8.02e-05)|Lung NSC(277;0.000156)		all cancers(265;0.0185)|Colorectal(144;0.0186)|Lung(183;0.0238)|COAD - Colon adenocarcinoma(174;0.0644)|Epithelial(280;0.0872)|LUSC - Lung squamous cell carcinoma(189;0.134)	Adenosine(DB00640)|Aminophylline(DB01223)	CCAATGAAAATTTCCATGGTG	0.537													G	112045919	T	G	112045919	3	3	364	1	0	0	0	0	1	0	0	0	329	1493	52	5	1620	5	ADORA3	1	112045919	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	255	112045919	137204702	805	24307											
KCND3	3752	broad.mit.edu	37	chr1	112329661	112329661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggcaatgaccaggaCgccactcaaggagcagatgg	12	4	15	10	1	1	2	1	1	0	1	1	4	1	4	2	5	1	3	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112329661C>T	ENST00000369697.1	-	2	1243	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	KCND3_ENST00000302127.4_Missense_Mutation_p.V392I|KCND3_ENST00000315987.2_Missense_Mutation_p.V392I			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	392						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		ATGACCAGGACGCCACTCAAG	0.517													T	112329661	C	T	112329661	3	4	364	1	0	0	0	0	1	0	0	0	8078	536	19	1	817	1	KCND3	1	112329661	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	283742	112329661	136920960	806	24308											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112998752	112998752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggagaaggagaagagccGggtgagtaaactggaagaag	16	5	17	3	1	0	5	0	1	0	4	0	8	0	6	1	4	2	1	1	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112998752G>A	ENST00000271277.6	+	6	863	c.638G>A	c.(637-639)cGg>cAg	p.R213Q		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	213						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGAAGAGCCGGGTGAGTAAA	0.517													A	112998752	G	A	112998752	3	1	364	1	0	0	0	0	1	0	0	0	4079	1116	39	1	652	1	CTTNBP2NL	1	112998752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	669091	112998752	136251869	807	24309											
CTTNBP2NL	55917	broad.mit.edu	37	chr1	112999761	112999761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgacacaagccattcAcctactccagggaaagtgtc	13	7	10	11	0	1	2	1	1	0	1	3	3	2	3	3	2	2	0	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:112999761A>G	ENST00000271277.6	+	6	1872	c.1647A>G	c.(1645-1647)tcA>tcG	p.S549S	CTTNBP2NL_ENST00000607039.1_3'UTR	NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	549						actin cytoskeleton	protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAAGCCATTCACCTACTCCAG	0.552													G	112999761	A	G	112999761	2	3	364	1	0	0	0	0	0	0	0	1	4079	146	6	3		3	CTTNBP2NL	1	112999761	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1009	112999761	136250860	808	24310											
WNT2B	7482	broad.mit.edu	37	chr1	113063007	113063007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacaactcgagtcacccGtgttacccagtgtgagtgca	10	8	10	13	3	1	1	1	1	0	0	2	3	1	1	2	0	3	2	2	0	2	1	rs144189370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113063007G>A	ENST00000369686.5	+	6	1099	c.995G>A	c.(994-996)cGt>cAt	p.R332H	WNT2B_ENST00000369684.4_Missense_Mutation_p.R351H|WNT2B_ENST00000256640.5_Missense_Mutation_p.R259H	NM_004185.3	NP_004176.2	Q93097	WNT2B_HUMAN	wingless-type MMTV integration site family, member 2B						chondrocyte differentiation|cornea development in camera-type eye|dorsal/ventral axis specification|forebrain regionalization|hemopoietic stem cell proliferation|iris morphogenesis|lens development in camera-type eye|lung induction|male gonad development|neuron differentiation|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|stomach(1)	18	Lung SC(450;0.246)	all_cancers(81;7.31e-07)|all_epithelial(167;4.59e-06)|all_lung(203;2.56e-05)|Lung NSC(69;4.38e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAGTCACCCGTGTTACCCAG	0.527													A	113063007	G	A	113063007	3	1	364	1	0	0	0	0	1	0	0	0	17489	1145	40	1	1203	1	WNT2B	1	113063007	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63246	113063007	136187614	809	24311											
RHOC	389	broad.mit.edu	37	chr1	113244177	113244177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctcagagaatgggacaGcccctccgacgcttgttctt	8	10	11	12	2	2	1	1	0	2	1	4	5	3	3	3	2	1	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113244177G>A	ENST00000369636.2	-	5	555	c.506C>T	c.(505-507)gCt>gTt	p.A169V	RHOC_ENST00000369632.2_Silent_p.G189G|RHOC_ENST00000285735.2_Silent_p.G189G|RHOC_ENST00000369633.2_Silent_p.G189G|RHOC_ENST00000369637.1_Silent_p.G189G|RHOC_ENST00000339083.7_Silent_p.G189G|RHOC_ENST00000369638.2_Silent_p.G189G|RHOC_ENST00000369642.3_Silent_p.G189G			P08134	RHOC_HUMAN	ras homolog family member C	0					axon guidance|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAATGGGACAGCCCCTCCGAC	0.602													A	113244177	G	A	113244177	3	1	364	1	0	0	0	0	1	0	0	0	13425	958	34	2	18	2	RHOC	1	113244177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181170	113244177	136006444	810	24312											
PPM1J	333926	broad.mit.edu	37	chr1	113254974	113254974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcccccatacctgctatCgcctgcattggccacgtaca	7	9	6	19	2	0	0	0	0	0	0	2	0	1	0	6	1	4	3	6	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113254974C>T	ENST00000464951.1	-	5	1625	c.217G>A	c.(217-219)Gat>Aat	p.D73N	PPM1J_ENST00000309276.6_Missense_Mutation_p.D279N|PPM1J_ENST00000359994.4_Missense_Mutation_p.D73N			Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	279										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACCTGCTATCGCCTGCATTG	0.607													T	113254974	C	T	113254974	3	4	364	1	0	0	0	0	1	0	0	0	12424	884	31	1	710	1	PPM1J	1	113254974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10797	113254974	135995647	811	24313											
FAM19A3	284467	broad.mit.edu	37	chr1	113266618	113266618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctagagctgcactccGcctcctgctcccacagcctc	7	7	7	20	1	0	2	0	0	0	2	4	2	3	2	6	0	4	3	6	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113266618G>A	ENST00000369630.3	+	4	534	c.317G>A	c.(316-318)cGc>cAc	p.R106H	FAM19A3_ENST00000361886.3_Intron			Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	0						extracellular region				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCTGCACTCCGCCTCCTGCTC	0.632													A	113266618	G	A	113266618	3	1	364	1	0	0	0	0	1	0	0	0	5580	1087	38	1	327	1	FAM19A3	1	113266618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11644	113266618	135984003	812	24314											
SLC16A1	6566	broad.mit.edu	37	chr1	113460590	113460590	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatggccagtccgttGgccaatggtcgcctcttgta	5	11	11	14	2	1	0	0	0	1	0	3	0	2	0	6	3	1	2	6	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113460590G>T	ENST00000538576.1	-	4	1269	c.438C>A	c.(436-438)gcC>gcA	p.A146A	SLC16A1_ENST00000369626.3_Silent_p.A146A|SLC16A1_ENST00000433570.4_Silent_p.A146A	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	146					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	CCAGTCCGTTGGCCAATGGTC	0.478													T	113460590	G	T	113460590	2	4	364	1	0	0	0	0	0	0	0	1	14496	1335	47	4		4	SLC16A1	1	113460590	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193972	113460590	135790031	813	24315											
LRIG2	9860	broad.mit.edu	37	chr1	113666508	113666508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctcagaaacattgcagCggcccgtgtggaacataaac	13	8	9	11	2	1	1	1	0	1	1	2	2	1	2	1	2	5	1	1	2	4	3	rs151009293		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:113666508C>T	ENST00000361127.5	+	18	3181	c.2983C>T	c.(2983-2985)Cgg>Tgg	p.R995W	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		AACATTGCAGCGGCCCGTGTG	0.418													T	113666508	C	T	113666508	3	4	364	1	0	0	0	0	1	0	0	0	9015	759	27	1	3053	1	LRIG2	1	113666508	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205918	113666508	135584113	814	24316											
MAGI3	260425	broad.mit.edu	37	chr1	114128135	114128135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacgaacgacatctgtcaGcaagatggaaagaatggata	19	6	10	6	2	2	2	1	0	1	2	2	6	2	4	0	2	3	1	0	2	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114128135G>A	ENST00000369615.1	+	4	742	c.680G>A	c.(679-681)aGc>aAc	p.S227N	MAGI3_ENST00000369611.4_Missense_Mutation_p.S227N|MAGI3_ENST00000307546.9_Missense_Mutation_p.S227N|MAGI3_ENST00000369617.4_Missense_Mutation_p.S227N	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	227	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACATCTGTCAGCAAGATGGAA	0.428													A	114128135	G	A	114128135	3	1	364	1	0	0	0	0	1	0	0	0	9267	971	34	2	694	2	MAGI3	1	114128135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	461627	114128135	135122486	815	24317											
MAGI3	260425	broad.mit.edu	37	chr1	114133192	114133192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagctccatggactttagaAattatatgatgagagatgag	15	12	10	4	0	0	5	0	3	0	2	1	7	1	6	1	1	1	1	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114133192A>G	ENST00000369615.1	+	5	912	c.850A>G	c.(850-852)Aat>Gat	p.N284D	MAGI3_ENST00000369611.4_Missense_Mutation_p.N284D|MAGI3_ENST00000307546.9_Missense_Mutation_p.N284D|MAGI3_ENST00000369617.4_Missense_Mutation_p.N284D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	284	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGACTTTAGAAATTATATGAT	0.413													G	114133192	A	G	114133192	3	3	364	1	0	0	0	0	1	0	0	0	9267	14	1	3	868	3	MAGI3	1	114133192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5057	114133192	135117429	816	24318											
MAGI3	260425	broad.mit.edu	37	chr1	114196468	114196468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaaacaacccgaggaCgacagctctcaggccttcat	15	5	8	13	2	2	1	2	0	1	1	3	4	2	2	2	2	3	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114196468C>T	ENST00000369615.1	+	15	2519	c.2457C>T	c.(2455-2457)gaC>gaT	p.D819D	MAGI3_ENST00000369611.4_Silent_p.D819D|MAGI3_ENST00000307546.9_Silent_p.D819D|MAGI3_ENST00000369617.4_Silent_p.D844D	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	844	Interaction with BAI1.|PDZ 4.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AACCCGAGGACGACAGCTCTC	0.478													T	114196468	C	T	114196468	2	4	364	1	0	0	0	0	0	0	0	1	9267	535	19	1		1	MAGI3	1	114196468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63276	114196468	135054153	817	24319											
MAGI3	260425	broad.mit.edu	37	chr1	114226160	114226160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctatacgggcagtaatGctgagcagatcccagatggg	11	7	14	9	1	0	3	0	1	0	2	1	3	1	3	1	3	3	5	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114226160G>A	ENST00000307546.9	+	21	4045	c.3970G>A	c.(3970-3972)Gct>Act	p.A1324T	MAGI3_ENST00000369615.1_3'UTR	NM_001142782.1	NP_001136254.1	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1349					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCAGTAATGCTGAGCAGAT	0.423													A	114226160	G	A	114226160	3	1	364	1	0	0	0	0	1	0	0	0	9267	1319	46	2	4106	2	MAGI3	1	114226160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29692	114226160	135024461	818	24320											
PHTF1	10745	broad.mit.edu	37	chr1	114246748	114246748	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtgtcagtaggaaaacCgaggatacaaccacatcaac	18	5	9	9	1	2	0	2	0	0	0	2	4	2	2	2	2	4	1	2	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114246748C>A	ENST00000369604.1	-	15	2328	c.1845G>T	c.(1843-1845)tcG>tcT	p.S615S	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.S562S|PHTF1_ENST00000369598.1_Silent_p.S570S|PHTF1_ENST00000369596.2_Silent_p.S562S|PHTF1_ENST00000357783.2_Silent_p.S615S|PHTF1_ENST00000393357.2_Silent_p.S615S			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	615						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTAGGAAAACCGAGGATACAA	0.423													A	114246748	C	A	114246748	2	1	364	1	0	0	0	0	0	0	0	1	11939	639	23	4		4	PHTF1	1	114246748	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20588	114246748	135003873	819	24321											
PHTF1	10745	broad.mit.edu	37	chr1	114248605	114248605	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaattatcgacaaaacaatAataggtgtaacaggtggtgc	16	11	9	5	1	0	0	0	0	0	0	1	1	0	0	0	3	3	1	0	3	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114248605A>G	ENST00000369604.1	-	13	2061	c.1578T>C	c.(1576-1578)atT>atC	p.I526I	PHTF1_ENST00000474926.1_5'UTR|PHTF1_ENST00000369600.1_Silent_p.I473I|PHTF1_ENST00000369598.1_Silent_p.I481I|PHTF1_ENST00000369596.2_Silent_p.I473I|PHTF1_ENST00000357783.2_Silent_p.I526I|PHTF1_ENST00000393357.2_Silent_p.I526I			Q9UMS5	PHTF1_HUMAN	putative homeodomain transcription factor 1	526						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAACAATAATAGGTGTAA	0.383													G	114248605	A	G	114248605	2	3	364	1	0	0	0	0	0	0	0	1	11939	358	13	3		3	PHTF1	1	114248605	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1857	114248605	135002016	820	24322											
RSBN1	54665	broad.mit.edu	37	chr1	114308942	114308942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctaagctgcacaccgccGaaactgttttgaactgatga	12	9	10	10	2	0	3	0	3	0	0	0	4	0	3	2	1	4	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114308942G>A	ENST00000261441.5	-	7	2132	c.2069C>T	c.(2068-2070)tCg>tTg	p.S690L	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	690						nucleus				breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCGCCGAAACTGTTTT	0.438													A	114308942	G	A	114308942	3	1	364	1	0	0	0	0	1	0	0	0	13787	1059	37	1	343	1	RSBN1	1	114308942	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60337	114308942	134941679	821	24323											
DCLRE1B	64858	broad.mit.edu	37	chr1	114448282	114448282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgggctggcaccgcacGtctcttcttcttgtctcaca	4	11	10	16	4	4	0	1	0	4	0	6	0	4	0	2	2	0	3	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114448282G>A	ENST00000369563.3	+	1	520	c.74G>A	c.(73-75)cGt>cAt	p.R25H	DCLRE1B_ENST00000466480.1_3'UTR	NM_022836.3	NP_073747.1	Q9H816	DCR1B_HUMAN	DNA cross-link repair 1B	25					cell cycle checkpoint|DNA repair|protection from non-homologous end joining at telomere|telomeric 3' overhang formation|telomeric loop formation	centrosome|chromosome, telomeric region|nucleus	5'-3' exonuclease activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(6)|stomach(1)	18	Lung SC(450;0.184)	all_cancers(81;1.46e-05)|all_epithelial(167;2.42e-05)|all_lung(203;0.000353)|Lung NSC(69;0.000518)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGCACCGCACGTCTCTTCTTC	0.627								Other identified genes with known or suspected DNA repair function					A	114448282	G	A	114448282	3	1	364	1	0	0	0	0	1	0	0	0	4329	1145	40	1	76	1	DCLRE1B	1	114448282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139340	114448282	134802339	822	24324											
HIPK1	204851	broad.mit.edu	37	chr1	114483046	114483046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttttcgcccccatcagtgtCgtcgagtgccttctgcagtg	4	13	11	13	3	2	0	1	0	1	0	5	1	2	0	3	0	2	2	3	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114483046C>T	ENST00000369558.1	+	2	273	c.41C>T	c.(40-42)tCg>tTg	p.S14L	HIPK1_ENST00000369561.4_Missense_Mutation_p.S14L|HIPK1_ENST00000426820.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369555.2_Missense_Mutation_p.S14L|HIPK1_ENST00000369559.4_Missense_Mutation_p.S14L|HIPK1_ENST00000369554.2_Missense_Mutation_p.S14L			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	14					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCATCAGTGTCGTCGAGTGCC	0.443													T	114483046	C	T	114483046	3	4	364	1	0	0	0	0	1	0	0	0	7171	893	31	1	43	1	HIPK1	1	114483046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34764	114483046	134767575	823	24325											
HIPK1	204851	broad.mit.edu	37	chr1	114512727	114512727	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttttggaggggcctggcaGagttgtggcagatggcactg	6	10	18	7	1	0	2	0	0	0	2	0	3	0	3	1	6	0	5	1	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114512727G>T	ENST00000369558.1	+	14	3153	c.2921G>T	c.(2920-2922)aGa>aTa	p.R974I	HIPK1_ENST00000369553.1_Missense_Mutation_p.R580I|HIPK1_ENST00000406344.1_Missense_Mutation_p.R580I|HIPK1_ENST00000369561.4_Missense_Mutation_p.R940I|HIPK1_ENST00000426820.2_Missense_Mutation_p.R974I|HIPK1_ENST00000369555.2_Missense_Mutation_p.R929I|HIPK1_ENST00000340480.4_Missense_Mutation_p.R600I|HIPK1_ENST00000369559.4_Missense_Mutation_p.R974I|HIPK1_ENST00000369554.2_Missense_Mutation_p.R929I			Q86Z02	HIPK1_HUMAN	homeodomain interacting protein kinase 1	974	Interaction with TP53.|Required for localization to nuclear speckles (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|prostate(2)	39	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.09e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGGCCTGGCAGAGTTGTGGCA	0.542													T	114512727	G	T	114512727	3	4	364	1	0	0	0	0	1	0	0	0	7171	942	33	4	2989	4	HIPK1	1	114512727	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29681	114512727	134737894	824	24326											
SYT6	148281	broad.mit.edu	37	chr1	114640391	114640391	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaaggagtgccagtgTgcgatgggcttccgggggta	7	8	16	10	2	0	0	0	0	0	0	2	2	2	1	4	4	2	2	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114640391T>C	ENST00000393296.1	-	6	1550	c.1473A>G	c.(1471-1473)gcA>gcG	p.A491A	SYT6_ENST00000610222.1_Silent_p.A491A|SYT6_ENST00000609117.1_Silent_p.A406A|SYT6_ENST00000369547.1_Silent_p.A406A|SYT6_ENST00000607941.1_Silent_p.A406A			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	491	Necessary for cell membrane association (isoform 2) (By similarity).				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTGCCAGTGTGCGATGGGCT	0.567													C	114640391	T	C	114640391	2	2	364	1	0	0	0	0	0	0	0	1	15575	1683	59	3		3	SYT6	1	114640391	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	127664	114640391	134610230	825	24327											
SYT6	148281	broad.mit.edu	37	chr1	114680281	114680281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcagccagctcctcataggGcacagggaagtggaagttct	10	8	13	10	0	3	0	2	0	1	0	4	2	4	2	2	3	2	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680281G>A	ENST00000393296.1	-	3	984	c.907C>T	c.(907-909)Ccc>Tcc	p.P303S	SYT6_ENST00000610222.1_Missense_Mutation_p.P303S|SYT6_ENST00000609117.1_Missense_Mutation_p.P218S|SYT6_ENST00000369547.1_Missense_Mutation_p.P218S|SYT6_ENST00000607941.1_Missense_Mutation_p.P218S			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	303	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTCATAGGGCACAGGGAAG	0.567													A	114680281	G	A	114680281	3	1	364	1	0	0	0	0	1	0	0	0	15575	1203	42	2	645	2	SYT6	1	114680281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39890	114680281	134570340	826	24328											
SYT6	148281	broad.mit.edu	37	chr1	114680430	114680430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcagggaggtcaaaaGccttcaggatacgcacaatc	12	7	11	11	1	2	0	2	0	0	0	3	2	2	2	2	4	2	2	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680430G>A	ENST00000393296.1	-	3	835	c.758C>T	c.(757-759)gCt>gTt	p.A253V	SYT6_ENST00000610222.1_Missense_Mutation_p.A253V|SYT6_ENST00000609117.1_Missense_Mutation_p.A168V|SYT6_ENST00000369547.1_Missense_Mutation_p.A168V|SYT6_ENST00000607941.1_Missense_Mutation_p.A168V			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	253	C2 1.				acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAGGTCAAAAGCCTTCAGGAT	0.547													A	114680430	G	A	114680430	3	1	364	1	0	0	0	0	1	0	0	0	15575	971	34	2	794	2	SYT6	1	114680430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149	114680430	134570191	827	24329											
SYT6	148281	broad.mit.edu	37	chr1	114680571	114680571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagagctcaggcttgatgCggccaatgctggtgggctgc	6	10	16	9	1	1	2	1	1	0	1	1	2	1	2	1	4	4	5	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114680571C>T	ENST00000393296.1	-	3	694	c.617G>A	c.(616-618)cGc>cAc	p.R206H	SYT6_ENST00000610222.1_Missense_Mutation_p.R206H|SYT6_ENST00000609117.1_Missense_Mutation_p.R121H|SYT6_ENST00000369547.1_Missense_Mutation_p.R121H|SYT6_ENST00000607941.1_Missense_Mutation_p.R121H			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	206					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGCTTGATGCGGCCAATGCT	0.572													T	114680571	C	T	114680571	3	4	364	1	0	0	0	0	1	0	0	0	15575	768	27	1	935	1	SYT6	1	114680571	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141	114680571	134570050	828	24330											
SYT6	148281	broad.mit.edu	37	chr1	114682286	114682286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctgcagccgggtgtgacGcatgatgtgctccttgaccg	5	9	14	13	4	0	3	0	3	0	0	1	3	1	3	4	1	3	4	4	1	0	1	rs144510124	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:114682286G>A	ENST00000393296.1	-	2	540	c.463C>T	c.(463-465)Cgt>Tgt	p.R155C	SYT6_ENST00000610222.1_Missense_Mutation_p.R155C|SYT6_ENST00000609117.1_Missense_Mutation_p.R70C|SYT6_ENST00000369547.1_Missense_Mutation_p.R70C|SYT6_ENST00000607941.1_Missense_Mutation_p.R70C			Q5T7P8	SYT6_HUMAN	synaptotagmin VI	155					acrosomal vesicle exocytosis	cell junction|cytosol|integral to membrane|perinuclear endoplasmic reticulum|peripheral to membrane of membrane fraction|synaptic vesicle membrane	clathrin binding|metal ion binding|protein homodimerization activity|syntaxin binding|transporter activity			central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37	Lung SC(450;0.184)	all_cancers(81;4.41e-08)|all_epithelial(167;5.18e-08)|all_lung(203;1.58e-05)|Lung NSC(69;2.82e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGGTGTGACGCATGATGTGC	0.627													A	114682286	G	A	114682286	3	1	364	1	0	0	0	0	1	0	0	0	15575	1087	38	1	1093	1	SYT6	1	114682286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1715	114682286	134568335	829	24331											
BCAS2	10286	broad.mit.edu	37	chr1	115118260	115118260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtgacattagttccaGattctcaattctaactgctt	10	16	6	9	0	2	2	1	1	2	1	4	2	3	2	1	0	3	3	1	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115118260G>T	ENST00000369541.3	-	4	417	c.370C>A	c.(370-372)Ctg>Atg	p.L124M	BCAS2_ENST00000485021.1_5'UTR	NM_005872.2	NP_005863.1	O75934	SPF27_HUMAN	breast carcinoma amplified sequence 2	124					mRNA processing|RNA splicing, via transesterification reactions	nucleolus|spliceosomal complex	protein binding			biliary_tract(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)	13	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATTAGTTCCAGATTCTCAATT	0.368													T	115118260	G	T	115118260	3	4	364	1	0	0	0	0	1	0	0	0	1356	933	33	4	323	4	BCAS2	1	115118260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	435974	115118260	134132361	830	24332											
DENND2C	163259	broad.mit.edu	37	chr1	115130424	115130424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatccaggaagtggcgtaCacttcgggaggtgtgggact	9	8	17	7	2	0	1	0	0	0	1	2	5	1	4	1	5	1	1	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115130424C>T	ENST00000393274.1	-	19	3206	c.2581G>A	c.(2581-2583)Gta>Ata	p.V861I	DENND2C_ENST00000393277.1_Missense_Mutation_p.V749I|DENND2C_ENST00000393276.3_Missense_Mutation_p.V804I|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	861	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAGTGGCGTACACTTCGGGAG	0.478													T	115130424	C	T	115130424	3	4	364	1	0	0	0	0	1	0	0	0	4469	478	17	2	217	2	DENND2C	1	115130424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12164	115130424	134120197	831	24333											
DENND2C	163259	broad.mit.edu	37	chr1	115151396	115151396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacaaaaagttcaaacaGctgctgctcctgtaattcaa	15	9	5	12	0	2	0	2	0	0	0	3	0	3	0	2	0	4	5	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115151396G>T	ENST00000393274.1	-	10	2093	c.1468C>A	c.(1468-1470)Ctg>Atg	p.L490M	DENND2C_ENST00000393277.1_Missense_Mutation_p.L490M|DENND2C_ENST00000393276.3_Missense_Mutation_p.L433M|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	490										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTTCAAACAGCTGCTGCTCC	0.463													T	115151396	G	T	115151396	3	4	364	1	0	0	0	0	1	0	0	0	4469	962	34	4	1366	4	DENND2C	1	115151396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20972	115151396	134099225	832	24334											
DENND2C	163259	broad.mit.edu	37	chr1	115153703	115153703	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcactcactctttggcaGatactcggcatcactttcgt	8	13	7	13	2	4	1	3	0	1	1	6	2	4	1	0	2	1	2	0	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115153703G>A	ENST00000393274.1	-	9	1985	c.1360C>T	c.(1360-1362)Ctg>Ttg	p.L454L	DENND2C_ENST00000393277.1_Silent_p.L454L|DENND2C_ENST00000393276.3_Silent_p.L397L|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	454										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTCTTTGGCAGATACTCGGCA	0.463													A	115153703	G	A	115153703	2	1	364	1	0	0	0	0	0	0	0	1	4469	933	33	2		2	DENND2C	1	115153703	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2307	115153703	134096918	833	24335											
DENND2C	163259	broad.mit.edu	37	chr1	115166215	115166215	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcttcacgaatcgtctGtgagttccgatttcgaaagt	10	14	9	8	4	3	1	1	1	2	0	6	4	4	1	1	0	0	2	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115166215G>A	ENST00000393274.1	-	5	1481	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	DENND2C_ENST00000393277.1_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000393276.3_Nonsense_Mutation_p.Q286*|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	286										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGAATCGTCTGTGAGTTCCGA	0.333													A	115166215	G	A	115166215	4	1	364	1	0	0	0	0	0	1	0	0	4469	1386	48	2	1823	2	DENND2C	1	115166215	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12512	115166215	134084406	834	24336											
AMPD1	270	broad.mit.edu	37	chr1	115218604	115218604	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaaaatgtggaaggaaaTtcttggaacggaacacatca	16	9	9	7	1	2	0	1	0	1	0	3	4	3	4	1	4	2	0	1	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115218604T>G	ENST00000369538.3	-	10	1543	c.1496A>C	c.(1495-1497)aAt>aCt	p.N499T	AMPD1_ENST00000353928.6_Missense_Mutation_p.N470T|AMPD1_ENST00000520113.2_Missense_Mutation_p.N503T	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	470					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TGGAAGGAAATTCTTGGAACG	0.433													G	115218604	T	G	115218604	3	3	364	1	0	0	0	0	1	0	0	0	585	1493	52	5	858	5	AMPD1	1	115218604	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52389	115218604	134032017	835	24337											
AMPD1	270	broad.mit.edu	37	chr1	115222982	115222982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcatctttgctgactgctGcttcattaggatagacgtaa	9	14	9	9	1	3	2	2	1	1	1	3	3	3	3	0	1	3	5	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115222982G>A	ENST00000369538.3	-	5	799	c.752C>T	c.(751-753)gCa>gTa	p.A251V	AMPD1_ENST00000353928.6_Missense_Mutation_p.A222V|AMPD1_ENST00000520113.2_Missense_Mutation_p.A255V	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	222					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	GCTGACTGCTGCTTCATTAGG	0.443													A	115222982	G	A	115222982	3	1	364	1	0	0	0	0	1	0	0	0	585	1319	46	2	1622	2	AMPD1	1	115222982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4378	115222982	134027639	836	24338											
CSDE1	7812	broad.mit.edu	37	chr1	115267900	115267900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctttgcctttggacaaGctatactcgaccatgtcccc	7	13	7	14	1	0	0	0	0	0	0	2	2	1	1	5	1	4	1	5	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267900G>A	ENST00000438362.2	-	15	2211	c.1833C>T	c.(1831-1833)agC>agT	p.S611S	CSDE1_ENST00000530886.1_Silent_p.S435S|CSDE1_ENST00000534699.1_Silent_p.S565S|CSDE1_ENST00000369530.1_Silent_p.S580S|CSDE1_ENST00000261443.5_Silent_p.S534S|CSDE1_ENST00000339438.6_Silent_p.S534S|CSDE1_ENST00000358528.4_Silent_p.S565S	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	565	CSD 8.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTTGGACAAGCTATACTCGA	0.393													A	115267900	G	A	115267900	2	1	364	1	0	0	0	0	0	0	0	1	3962	962	34	2		2	CSDE1	1	115267900	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44918	115267900	133982721	837	24339											
CSDE1	7812	broad.mit.edu	37	chr1	115267955	115267955	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatcaccagagaactcaCtaaggagaaaggaaatgaca	20	4	8	9	0	2	3	2	1	0	2	2	6	2	4	1	2	2	0	1	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115267955C>T	ENST00000438362.2	-	15	2157		c.e15-1		CSDE1_ENST00000530886.1_Splice_Site|CSDE1_ENST00000534699.1_Splice_Site|CSDE1_ENST00000369530.1_Splice_Site|CSDE1_ENST00000261443.5_Splice_Site|CSDE1_ENST00000339438.6_Splice_Site|CSDE1_ENST00000358528.4_Splice_Site	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding						male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGAACTCACTAAGGAGAAA	0.408													T	115267955	C	T	115267955	5	4	364	1	0	0	0	0	0	0	1	0	3962	579	20	2	780	2	CSDE1	1	115267955	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55	115267955	133982666	838	24340											
CSDE1	7812	broad.mit.edu	37	chr1	115273208	115273208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgaagtggaagaacataCgaacatcacgatccacacac	17	5	7	12	2	1	2	1	1	0	1	2	5	2	3	1	1	3	0	1	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115273208C>T	ENST00000438362.2	-	11	1628	c.1250G>A	c.(1249-1251)cGt>cAt	p.R417H	CSDE1_ENST00000530886.1_Missense_Mutation_p.R241H|CSDE1_ENST00000534699.1_Missense_Mutation_p.R371H|CSDE1_ENST00000369530.1_Missense_Mutation_p.R386H|CSDE1_ENST00000261443.5_Missense_Mutation_p.R340H|CSDE1_ENST00000339438.6_Missense_Mutation_p.R340H|CSDE1_ENST00000358528.4_Missense_Mutation_p.R371H	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	371					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GAAGAACATACGAACATCACG	0.418													T	115273208	C	T	115273208	3	4	364	1	0	0	0	0	1	0	0	0	3962	536	19	1	1324	1	CSDE1	1	115273208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5253	115273208	133977413	839	24341											
CSDE1	7812	broad.mit.edu	37	chr1	115276643	115276643	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaattccacatcatcGccaggctgtaaggtttctaa	11	13	8	9	1	2	1	1	1	1	0	4	1	3	1	2	2	0	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115276643G>A	ENST00000438362.2	-	8	1194	c.816C>T	c.(814-816)ggC>ggT	p.G272G	CSDE1_ENST00000530886.1_Silent_p.G96G|CSDE1_ENST00000534699.1_Silent_p.G226G|CSDE1_ENST00000369530.1_Silent_p.G241G|CSDE1_ENST00000261443.5_Silent_p.G195G|CSDE1_ENST00000339438.6_Silent_p.G195G|CSDE1_ENST00000358528.4_Silent_p.G226G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	226					male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACATCATCGCCAGGCTGTA	0.358													A	115276643	G	A	115276643	2	1	364	1	0	0	0	0	0	0	0	1	3962	1074	38	1		1	CSDE1	1	115276643	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3435	115276643	133973978	840	24342											
SIKE1	80143	broad.mit.edu	37	chr1	115321893	115321893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcctggtgttcctccaagGaaatccatagctctgtcaaa	11	11	7	12	0	2	0	1	0	1	0	6	1	6	1	4	2	1	2	4	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115321893G>A	ENST00000369528.5	-	3	367	c.290C>T	c.(289-291)tCc>tTc	p.S97F	SIKE1_ENST00000060969.5_Missense_Mutation_p.S93F|SIKE1_ENST00000506320.1_5'UTR	NM_001102396.1|NM_025073.2	NP_001095866.1|NP_079349.2	Q9BRV8	SIKE1_HUMAN	suppressor of IKBKE 1	93						cytosol	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TTCCTCCAAGGAAATCCATAG	0.388													A	115321893	G	A	115321893	3	1	364	1	0	0	0	0	1	0	0	0	14414	1174	41	2	357	2	SIKE1	1	115321893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45250	115321893	133928728	841	24343											
SYCP1	6847	broad.mit.edu	37	chr1	115428851	115428851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaatctaataaagctagaGctgctcattcgtttgtggtt	12	14	9	6	1	2	2	1	0	1	2	3	2	2	2	0	1	3	5	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:115428851G>A	ENST00000369522.3	+	14	1351	c.1111G>A	c.(1111-1113)Gct>Act	p.A371T	SYCP1_ENST00000369518.1_Missense_Mutation_p.A371T	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	371					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAAAGCTAGAGCTGCTCATTC	0.318													A	115428851	G	A	115428851	3	1	364	1	0	0	0	0	1	0	0	0	15528	971	34	2	1161	2	SYCP1	1	115428851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106958	115428851	133821770	842	24344											
VANGL1	81839	broad.mit.edu	37	chr1	116227955	116227955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcatccacattcagcGtctccaggctgaggagcagc	8	8	11	14	1	3	1	2	1	1	0	5	2	4	2	3	3	3	2	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116227955G>A	ENST00000355485.2	+	7	1392	c.1121G>A	c.(1120-1122)cGt>cAt	p.R374H	VANGL1_ENST00000369510.4_Missense_Mutation_p.R372H|VANGL1_ENST00000310260.3_Missense_Mutation_p.R374H|VANGL1_ENST00000369509.1_Missense_Mutation_p.R374H	NM_001172411.1|NM_138959.2	NP_001165882.1|NP_620409.1	Q8TAA9	VANG1_HUMAN	VANGL planar cell polarity protein 1	374					multicellular organismal development	integral to membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(13)|urinary_tract(1)	27	Lung SC(450;0.211)	all_cancers(81;1.24e-06)|all_epithelial(167;1.02e-06)|all_lung(203;7.95e-06)|Lung NSC(69;4.97e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CACATTCAGCGTCTCCAGGCT	0.587													A	116227955	G	A	116227955	3	1	364	1	0	0	0	0	1	0	0	0	17221	1145	40	1	1143	1	VANGL1	1	116227955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	799104	116227955	133022666	843	24345											
CASQ2	845	broad.mit.edu	37	chr1	116269612	116269612	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacatgccatctcaggcaCctttggtgttccttcacaaa	9	11	6	15	0	2	0	2	0	1	0	4	0	3	0	4	2	1	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116269612C>A	ENST00000261448.5	-	6	977		c.e6+1		CASQ2_ENST00000456138.2_Splice_Site	NM_001232.3	NP_001223.2	O14958	CASQ2_HUMAN	calsequestrin 2 (cardiac muscle)						heart development|striated muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	18	Lung SC(450;0.211)	all_cancers(81;1.25e-06)|all_epithelial(167;1.02e-06)|all_lung(203;8.03e-06)|Lung NSC(69;5.01e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ATCTCAGGCACCTTTGGTGTT	0.532													A	116269612	C	A	116269612	5	1	364	1	0	0	0	0	0	0	1	0	2707	521	18	4	485	4	CASQ2	1	116269612	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41657	116269612	132981009	844	24346											
NHLH2	4808	broad.mit.edu	37	chr1	116380610	116380610	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtccaggacgtggttgagAtaggagatgtagcagatggc	11	8	16	6	2	0	3	0	1	0	3	1	6	1	4	1	4	1	3	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116380610A>T	ENST00000369506.1	-	1	5928	c.384T>A	c.(382-384)taT>taA	p.Y128*	NHLH2_ENST00000320238.3_Nonsense_Mutation_p.Y128*			Q02577	HEN2_HUMAN	nescient helix loop helix 2	128	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			prostate(1)	1	Lung SC(450;0.184)	all_cancers(81;1.75e-06)|all_epithelial(167;1.16e-06)|all_lung(203;9.55e-06)|Lung NSC(69;5.83e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CGTGGTTGAGATAGGAGATGT	0.682													T	116380610	A	T	116380610	4	4	364	1	0	0	0	0	0	1	0	0	10480	340	12	5	27	5	NHLH2	1	116380610	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110998	116380610	132870011	845	24347											
SLC22A15	55356	broad.mit.edu	37	chr1	116563484	116563484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttaatgaatgtgtgggCaccgcctactgggcacttgc	7	12	12	10	1	0	1	0	1	0	0	0	1	0	1	2	2	3	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116563484C>T	ENST00000369503.4	+	4	706	c.576C>T	c.(574-576)ggC>ggT	p.G192G	SLC22A15_ENST00000369502.1_Silent_p.G192G	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	192					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		AATGTGTGGGCACCGCCTACT	0.498											OREG0013699	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	116563484	C	T	116563484	2	4	364	1	0	0	0	0	0	0	0	1	14540	697	25	2		2	SLC22A15	1	116563484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182874	116563484	132687137	846	24348											
SLC22A15	55356	broad.mit.edu	37	chr1	116569603	116569603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggaccctagccattCtggttaacctgcagggaacg	9	8	12	12	1	1	0	0	0	1	0	1	3	1	3	4	4	4	2	4	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116569603C>A	ENST00000369503.4	+	5	818	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	SLC22A15_ENST00000369502.1_Missense_Mutation_p.L230M	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	230					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		CCTAGCCATTCTGGTTAACCT	0.443													A	116569603	C	A	116569603	3	1	364	1	0	0	0	0	1	0	0	0	14540	912	32	4	706	4	SLC22A15	1	116569603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6119	116569603	132681018	847	24349											
ATP1A1	476	broad.mit.edu	37	chr1	116929920	116929920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctcagggattaacatCtgctcgtgcagctgagatcc	8	12	10	11	1	2	1	1	1	2	1	5	3	3	2	1	1	5	4	1	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929920C>A	ENST00000537345.1	+	4	557	c.194C>A	c.(193-195)tCt>tAt	p.S65Y	ATP1A1_ENST00000369496.4_Missense_Mutation_p.S34Y|ATP1A1_ENST00000295598.5_Missense_Mutation_p.S65Y	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	65					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	GGATTAACATCTGCTCGTGCA	0.507													A	116929920	C	A	116929920	3	1	364	1	0	0	0	0	1	0	0	0	1133	913	32	4	224	4	ATP1A1	1	116929920	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	360317	116929920	132320701	848	24350											
ATP1A1	476	broad.mit.edu	37	chr1	116929940	116929940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcgtgcagctgagatcCtggcgcgagatggtcccaac	7	8	13	13	3	0	2	0	1	0	2	3	4	2	2	2	2	4	3	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116929940C>A	ENST00000537345.1	+	4	577	c.214C>A	c.(214-216)Ctg>Atg	p.L72M	ATP1A1_ENST00000369496.4_Missense_Mutation_p.L41M|ATP1A1_ENST00000295598.5_Missense_Mutation_p.L72M	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	72					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCTGAGATCCTGGCGCGAGA	0.502													A	116929940	C	A	116929940	3	1	364	1	0	0	0	0	1	0	0	0	1133	680	24	4	244	4	ATP1A1	1	116929940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	116929940	132320681	849	24351											
ATP1A1	476	broad.mit.edu	37	chr1	116931303	116931303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaaatgagcataaatgCggaggaagttgtggttgggg	13	9	17	2	1	0	2	0	2	0	1	0	5	0	4	0	5	2	3	0	5	5	3	rs139745455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:116931303C>T	ENST00000537345.1	+	6	908	c.545C>T	c.(544-546)gCg>gTg	p.A182V	ATP1A1_ENST00000369496.4_Missense_Mutation_p.A151V|ATP1A1_ENST00000295598.5_Missense_Mutation_p.A182V	NM_001160233.1	NP_001153705.1	P05023	AT1A1_HUMAN	ATPase, Na+/K+ transporting, alpha 1 polypeptide	182					ATP biosynthetic process	melanosome|sodium:potassium-exchanging ATPase complex	ATP binding|metal ion binding|protein binding|sodium:potassium-exchanging ATPase activity			NS(2)|breast(2)|cervix(3)|endometrium(2)|kidney(5)|large_intestine(9)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47	Lung SC(450;0.225)	all_cancers(81;1.28e-06)|all_epithelial(167;3.48e-07)|all_lung(203;2.64e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0164)|LUSC - Lung squamous cell carcinoma(189;0.0548)|Colorectal(144;0.0825)|COAD - Colon adenocarcinoma(174;0.127)|all cancers(265;0.24)	Acetyldigitoxin(DB00511)|Almitrine(DB01430)|Aluminium(DB01370)|Bepridil(DB01244)|Bretylium(DB01158)|Captopril(DB01197)|Deslanoside(DB01078)|Diazoxide(DB01119)|Digitoxin(DB01396)|Digoxin(DB00390)|Esomeprazole(DB00736)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Ouabain(DB01092)|Pantoprazole(DB00213)|Trichlormethiazide(DB01021)	AGCATAAATGCGGAGGAAGTT	0.438													T	116931303	C	T	116931303	3	4	364	1	0	0	0	0	1	0	0	0	1133	768	27	1	583	1	ATP1A1	1	116931303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1363	116931303	132319318	850	24352											
IGSF3	3321	broad.mit.edu	37	chr1	117150586	117150586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggggaggactatgatgggGatgttcttgggacgcttgct	7	11	18	5	1	1	1	0	1	1	0	1	5	1	5	0	6	1	3	0	6	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117150586G>A	ENST00000369486.3	-	5	1965	c.1200C>T	c.(1198-1200)atC>atT	p.I400I	IGSF3_ENST00000318837.6_Silent_p.I400I|IGSF3_ENST00000369483.1_Silent_p.I400I	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	400						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CTATGATGGGGATGTTCTTGG	0.512													A	117150586	G	A	117150586	2	1	364	1	0	0	0	0	0	0	0	1	7659	1164	41	2		2	IGSF3	1	117150586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	219283	117150586	132100035	851	24353											
IGSF3	3321	broad.mit.edu	37	chr1	117156618	117156618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagtgaagcatgaaatCtcggctcagggagatgacct	11	8	14	8	1	2	4	1	3	1	1	3	6	2	5	1	3	1	3	1	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117156618C>A	ENST00000369486.3	-	4	1366	c.601G>T	c.(601-603)Gat>Tat	p.D201Y	IGSF3_ENST00000318837.6_Missense_Mutation_p.D201Y|IGSF3_ENST00000369483.1_Missense_Mutation_p.D201Y	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	201	Ig-like C2-type 2.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGCATGAAATCTCGGCTCAGG	0.612													A	117156618	C	A	117156618	3	1	364	1	0	0	0	0	1	0	0	0	7659	913	32	4	3079	4	IGSF3	1	117156618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6032	117156618	132094003	852	24354											
PTGFRN	5738	broad.mit.edu	37	chr1	117492100	117492100	+	Silent	SNP	C	C	T																															aactctggctactattactgCcacgtgtccctgtgggcacc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492100C>T	ENST00000393203.2	+	4	1266	c.1119C>T	c.(1117-1119)tgC>tgT	p.C373C		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	373	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTATTACTGCCACGTGTCCC	0.552													T	117492100	C	T	117492100	2	4	364	1	0	0	0	0	0	0	0	1	12836	747	26	2		2	PTGFRN	1	117492100	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335482	117492100	131758521	853	24355	40	2									
PTGFRN	5738	broad.mit.edu	37	chr1	117492104	117492104	+	Missense_Mutation	SNP	G	G	A																															ctggctactattactgccacGtgtccctgtgggcacccgga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117492104G>A	ENST00000393203.2	+	4	1270	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	375	Ig-like C2-type 3.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TTACTGCCACGTGTCCCTGTG	0.552													A	117492104	G	A	117492104	3	1	364	1	0	0	0	0	1	0	0	0	12836	1145	40	1	1137	1	PTGFRN	1	117492104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4	117492104	131758517	854	24356	40	2									
PTGFRN	5738	broad.mit.edu	37	chr1	117509809	117509809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcaggaggatgagttccGctatcgaatgtaccagactc	11	9	12	9	2	0	2	0	1	0	1	3	5	1	4	2	2	2	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509809G>A	ENST00000393203.2	+	6	2063	c.1916G>A	c.(1915-1917)cGc>cAc	p.R639H	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	639	Ig-like C2-type 5.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GATGAGTTCCGCTATCGAATG	0.542													A	117509809	G	A	117509809	3	1	364	1	0	0	0	0	1	0	0	0	12836	1087	38	1	1938	1	PTGFRN	1	117509809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17705	117509809	131740812	855	24357											
PTGFRN	5738	broad.mit.edu	37	chr1	117509948	117509948	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagatagacttccaaacCtcaggtgagcagtgagccct	12	9	10	10	0	1	4	1	3	0	2	2	5	2	4	3	1	3	1	3	1	2	3	rs151131304		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117509948C>A	ENST00000393203.2	+	6	2202	c.2055C>A	c.(2053-2055)acC>acA	p.T685T	PTGFRN_ENST00000496699.1_3'UTR	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	685						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		ACTTCCAAACCTCAGGTGAGC	0.488													A	117509948	C	A	117509948	2	1	364	1	0	0	0	0	0	0	0	1	12836	668	24	4		4	PTGFRN	1	117509948	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139	117509948	131740673	856	24358											
PTGFRN	5738	broad.mit.edu	37	chr1	117529445	117529445	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaacgccttcaagtatccCttgctgatcggcgtcggtct	6	12	10	13	4	2	2	1	2	1	0	5	2	3	2	2	2	2	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529445C>A	ENST00000393203.2	+	9	2643	c.2496C>A	c.(2494-2496)ccC>ccA	p.P832P		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	832						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCAAGTATCCCTTGCTGATCG	0.607													A	117529445	C	A	117529445	2	1	364	1	0	0	0	0	0	0	0	1	12836	668	24	4		4	PTGFRN	1	117529445	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19497	117529445	131721176	857	24359											
PTGFRN	5738	broad.mit.edu	37	chr1	117529477	117529477	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggtctgtccacggtcaTcgggctcctgtcctgtctca	3	12	11	15	4	3	0	2	0	2	0	9	0	6	0	3	3	0	1	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117529477T>C	ENST00000393203.2	+	9	2675	c.2528T>C	c.(2527-2529)aTc>aCc	p.I843T		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	843						endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		TCCACGGTCATCGGGCTCCTG	0.602													C	117529477	T	C	117529477	3	2	364	1	0	0	0	0	1	0	0	0	12836	1435	50	3	2562	3	PTGFRN	1	117529477	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32	117529477	131721144	858	24360											
CD101	9398	broad.mit.edu	37	chr1	117561089	117561089	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagtgtatcagtgtgaaGtagaagtttatgacagaaat	15	11	12	3	0	1	4	1	2	0	2	1	5	1	5	0	1	0	3	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117561089G>A	ENST00000256652.4	+	6	1982	c.1924G>A	c.(1924-1926)Gta>Ata	p.V642I	CD101_ENST00000369470.1_Missense_Mutation_p.V642I	NM_001256106.1|NM_001256109.1|NM_001256111.1|NM_004258.4	NP_001243035.1|NP_001243038.1|NP_001243040.1|NP_004249.2	Q93033	IGSF2_HUMAN	CD101 molecule	642	Ig-like C2-type 5.				cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(14)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TCAGTGTGAAGTAGAAGTTTA	0.483													A	117561089	G	A	117561089	3	1	364	1	0	0	0	0	1	0	0	0	2992	1029	36	2	1946	2	CD101	1	117561089	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31612	117561089	131689532	859	24361											
TTF2	8458	broad.mit.edu	37	chr1	117626696	117626696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctgcctccctgatcCatcattggaaaaatgaggtg	9	12	9	11	0	2	2	1	2	1	0	5	3	5	3	4	2	1	0	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117626696C>T	ENST00000369466.4	+	11	2004	c.1960C>T	c.(1960-1962)Cat>Tat	p.H654Y		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II		Helicase ATP-binding.				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CTCCCTGATCCATCATTGGAA	0.443													T	117626696	C	T	117626696	3	4	364	1	0	0	0	0	1	0	0	0	16821	594	21	2	2002	2	TTF2	1	117626696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65607	117626696	131623925	860	24362											
TRIM45	80263	broad.mit.edu	37	chr1	117663672	117663672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagctgctccagacacGtggtgcaaactgtatgcaaa	11	8	10	12	1	0	1	0	0	0	1	2	1	2	1	2	1	5	6	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117663672G>A	ENST00000256649.4	-	1	678	c.152C>T	c.(151-153)aCg>aTg	p.T51M	TRIM45_ENST00000369461.3_Intron|TRIM45_ENST00000369464.3_Missense_Mutation_p.T51M	NM_025188.3	NP_079464.2	Q9H8W5	TRI45_HUMAN	tripartite motif containing 45	51						cytoplasm|nucleus	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|prostate(1)	23	Lung SC(450;0.225)	all_cancers(81;0.000979)|all_lung(203;7.65e-05)|all_epithelial(167;0.000134)|Lung NSC(69;0.000389)		Lung(183;0.0537)|Colorectal(144;0.172)|LUSC - Lung squamous cell carcinoma(189;0.187)		CTCCAGACACGTGGTGCAAAC	0.562													A	117663672	G	A	117663672	3	1	364	1	0	0	0	0	1	0	0	0	16621	1145	40	1	1614	1	TRIM45	1	117663672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36976	117663672	131586949	861	24363											
MAN1A2	10905	broad.mit.edu	37	chr1	117945001	117945001	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctattcccaaccttgtaGgaatacgtggtggagaccca	10	10	9	12	1	0	1	0	0	0	1	2	3	2	2	4	3	2	1	4	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:117945001G>T	ENST00000356554.3	+	2	1231	c.496G>T	c.(496-498)Gga>Tga	p.G166*	MAN1A2_ENST00000482811.1_Intron	NM_006699.3	NP_006690.1	O60476	MA1A2_HUMAN	mannosidase, alpha, class 1A, member 2	166					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	27	Lung SC(450;0.225)	all_cancers(81;7.9e-06)|all_epithelial(167;7.39e-07)|all_lung(203;2.84e-06)|Lung NSC(69;1.99e-05)		Lung(183;0.0688)|Kidney(133;0.114)|LUSC - Lung squamous cell carcinoma(189;0.223)|KIRC - Kidney renal clear cell carcinoma(1967;0.237)|Colorectal(144;0.243)		CAACCTTGTAGGAATACGTGG	0.383													T	117945001	G	T	117945001	4	4	364	1	0	0	0	0	0	1	0	0	9286	1001	35	4	502	4	MAN1A2	1	117945001	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281329	117945001	131305620	862	24364											
WDR3	10885	broad.mit.edu	37	chr1	118488742	118488742	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcgcacaatgacctgTgaatatgcactttgctcatt	10	15	7	9	1	1	2	1	2	0	0	2	2	1	2	1	0	2	4	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118488742T>C	ENST00000349139.5	+	12	1409	c.1362T>C	c.(1360-1362)tgT>tgC	p.C454C		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		CAATGACCTGTGAATATGCAC	0.383													C	118488742	T	C	118488742	2	2	364	1	0	0	0	0	0	0	0	1	17387	1702	59	3		3	WDR3	1	118488742	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	543741	118488742	130761879	863	24365											
WDR3	10885	broad.mit.edu	37	chr1	118501575	118501575	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatcaaatgcttgtgccAgtgatagaaaaattaaggga	17	9	10	5	0	1	2	1	1	0	1	1	3	1	3	1	1	3	2	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118501575A>G	ENST00000349139.5	+	26	2672	c.2625A>G	c.(2623-2625)ccA>ccG	p.P875P	SPAG17_ENST00000336338.5_Intron	NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3							nuclear membrane|nucleolus				breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		TGCTTGTGCCAGTGATAGAAA	0.388													G	118501575	A	G	118501575	2	3	364	1	0	0	0	0	0	0	0	1	17387	175	7	3		3	WDR3	1	118501575	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12833	118501575	130749046	864	24366											
SPAG17	200162	broad.mit.edu	37	chr1	118514577	118514577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgactgatgatgggaGaagatggaacccaaaaaggg	17	6	13	5	0	0	5	0	3	0	2	0	7	0	6	1	3	2	0	1	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118514577G>T	ENST00000336338.5	-	45	6300	c.6235C>A	c.(6235-6237)Ctc>Atc	p.L2079I	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2079						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGATGGGAGAAGATGGAAC	0.448													T	118514577	G	T	118514577	3	4	364	1	0	0	0	0	1	0	0	0	15075	942	33	4	452	4	SPAG17	1	118514577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13002	118514577	130736044	865	24367											
SPAG17	200162	broad.mit.edu	37	chr1	118558601	118558601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcataccgttccattgacaGgatctgtggcctgaaaggat	10	11	11	9	1	2	2	1	2	1	0	3	4	3	4	3	3	1	1	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118558601G>T	ENST00000336338.5	-	29	4339	c.4274C>A	c.(4273-4275)cCt>cAt	p.P1425H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1425						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TCCATTGACAGGATCTGTGGC	0.393													T	118558601	G	T	118558601	3	4	364	1	0	0	0	0	1	0	0	0	15075	1000	35	4	2477	4	SPAG17	1	118558601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44024	118558601	130692020	866	24368											
SPAG17	200162	broad.mit.edu	37	chr1	118584517	118584517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagatttctccttgtaaGgtgattttttcttcaaagac	9	19	6	7	0	3	3	1	1	2	2	4	3	3	3	1	1	0	1	1	1	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118584517G>T	ENST00000336338.5	-	21	3028	c.2963C>A	c.(2962-2964)cCt>cAt	p.P988H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	988						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTCCTTGTAAGGTGATTTTTT	0.403													T	118584517	G	T	118584517	3	4	364	1	0	0	0	0	1	0	0	0	15075	1000	35	4	3820	4	SPAG17	1	118584517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25916	118584517	130666104	867	24369											
SPAG17	200162	broad.mit.edu	37	chr1	118634246	118634246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgttccagcatacaatGcagtatcaggggcacagaaa	14	7	9	11	0	1	1	1	0	0	1	2	1	2	1	2	2	3	5	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634246G>A	ENST00000336338.5	-	10	1407	c.1342C>T	c.(1342-1344)Cat>Tat	p.H448Y		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	448						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCATACAATGCAGTATCAGG	0.383													A	118634246	G	A	118634246	3	1	364	1	0	0	0	0	1	0	0	0	15075	1319	46	2	5485	2	SPAG17	1	118634246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49729	118634246	130616375	868	24370											
SPAG17	200162	broad.mit.edu	37	chr1	118634612	118634612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttccaggagctggtacaGcaggttgtggagcctagaaa	10	10	13	8	0	1	1	0	0	1	1	2	3	2	3	2	4	4	4	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118634612G>A	ENST00000336338.5	-	9	1252	c.1187C>T	c.(1186-1188)gCt>gTt	p.A396V		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	396						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AGCTGGTACAGCAGGTTGTGG	0.463													A	118634612	G	A	118634612	3	1	364	1	0	0	0	0	1	0	0	0	15075	971	34	2	5644	2	SPAG17	1	118634612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366	118634612	130616009	869	24371											
SPAG17	200162	broad.mit.edu	37	chr1	118640381	118640381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagagatttgtttcaGgtttctcattattcaggact	11	16	7	7	0	4	1	4	0	1	1	5	3	4	2	0	2	0	2	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118640381G>T	ENST00000336338.5	-	7	988	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	308						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		ATTTGTTTCAGGTTTCTCATT	0.373													T	118640381	G	T	118640381	3	4	364	1	0	0	0	0	1	0	0	0	15075	1000	35	4	5916	4	SPAG17	1	118640381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5769	118640381	130610240	870	24372											
SPAG17	200162	broad.mit.edu	37	chr1	118642422	118642422	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatcatctggctcatcGtctgttcaaaataccataaa	13	11	5	12	1	5	0	3	0	2	0	6	0	5	0	2	1	1	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:118642422G>A	ENST00000336338.5	-	6	701	c.636C>T	c.(634-636)gaC>gaT	p.D212D		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	212						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTGGCTCATCGTCTGTTCAAA	0.398													A	118642422	G	A	118642422	5	1	364	1	0	0	0	0	0	0	1	0	15075	1159	40	1	6207	1	SPAG17	1	118642422	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2041	118642422	130608199	871	24373											
TBX15	6913	broad.mit.edu	37	chr1	119466177	119466177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcactgctgaagtctttgCgaatcacatgaactcgaggc	10	10	11	10	2	3	2	2	2	1	0	4	4	3	2	0	2	3	1	0	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119466177C>T	ENST00000369429.3	-	5	752	c.743G>A	c.(742-744)cGc>cAc	p.R248H	TBX15_ENST00000207157.3_Missense_Mutation_p.R142H			Q96SF7	TBX15_HUMAN	T-box 15	248						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.R142H(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(19)|ovary(1)|pancreas(1)|skin(5)	37	all_neural(166;0.117)	all_cancers(81;0.000692)|all_lung(203;3.05e-06)|Lung NSC(69;2.13e-05)|all_epithelial(167;0.000237)		Lung(183;0.044)|LUSC - Lung squamous cell carcinoma(189;0.141)		GAAGTCTTTGCGAATCACATG	0.453													T	119466177	C	T	119466177	3	4	364	1	0	0	0	0	1	0	0	0	15752	768	27	1	1081	1	TBX15	1	119466177	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	823755	119466177	129784444	872	24374											
WARS2	10352	broad.mit.edu	37	chr1	119618995	119618996	+	Frame_Shift_Ins	INS	-	-	T																															agattgttggaaaaggatgcINSttttttccgggtttatgcca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:119618995_119618996insT	ENST00000369426.5	-	2	328_329	c.325_326insA	c.(325-327)agcfs	p.S109fs	WARS2_ENST00000235521.4_Frame_Shift_Ins_p.S109fs|WARS2_ENST00000537870.1_Frame_Shift_Ins_p.S15fs			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	109					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	GAAAAGGATGCTTTTTTCCGGG	0.446													T	119618996	-	T	119618995	7	5	364	1	0	1	1	0	0	0	0	0	17352	797	28	0	805	0	WARS2	1	119618995	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	152818	119618995	129631626	873	24375											
HSD3B1	3283	broad.mit.edu	37	chr1	120056731	120056731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatatctatggggaaggaagCcgattcctttctgctagtat	10	14	10	7	1	2	0	0	0	2	0	3	3	3	2	2	3	2	2	2	3	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120056731C>T	ENST00000235547.6	+	4	730	c.591C>T	c.(589-591)agC>agT	p.S197S	HSD3B1_ENST00000369413.3_Silent_p.S195S|HSD3B1_ENST00000528909.1_Silent_p.S195S	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	195					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	GGGAAGGAAGCCGATTCCTTT	0.493													T	120056731	C	T	120056731	2	4	364	1	0	0	0	0	0	0	0	1	7445	738	26	2		2	HSD3B1	1	120056731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	437736	120056731	129193890	874	24376											
PHGDH	26227	broad.mit.edu	37	chr1	120263907	120263907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtggacaatgtggatCtggaggccgcaacaaggaag	12	6	16	7	1	1	0	0	0	1	0	1	4	1	4	1	6	1	1	1	6	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120263907C>A	ENST00000369407.3	+	1	1658	c.151C>A	c.(151-153)Ctg>Atg	p.L51M	PHGDH_ENST00000369409.4_Missense_Mutation_p.L85M			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	85					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CAATGTGGATCTGGAGGCCGC	0.582													A	120263907	C	A	120263907	3	1	364	1	0	0	0	0	1	0	0	0	11918	912	32	4	259	4	PHGDH	1	120263907	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207176	120263907	128986714	875	24377											
HMGCS2	3158	broad.mit.edu	37	chr1	120301770	120301770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgattctggatttttttaCggtatgatgtgtaacatcga	10	17	9	5	2	1	2	0	2	1	0	2	4	1	3	0	2	2	2	0	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120301770C>T	ENST00000369406.3	-	4	870	c.821G>A	c.(820-822)cGt>cAt	p.R274H	HMGCS2_ENST00000544913.2_Missense_Mutation_p.R232H|HMGCS2_ENST00000476640.1_Intron	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	274					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity	p.R274H(1)		NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		GATTTTTTTACGGTATGATGT	0.468													T	120301770	C	T	120301770	3	4	364	1	0	0	0	0	1	0	0	0	7288	536	19	1	729	1	HMGCS2	1	120301770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37863	120301770	128948851	876	24378											
HMGCS2	3158	broad.mit.edu	37	chr1	120306897	120306897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcaatatcagtattgcCtgaatcctggaagagttcca	11	11	8	11	0	2	2	2	1	0	1	4	3	4	3	4	1	1	2	4	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120306897C>A	ENST00000369406.3	-	2	506	c.457G>T	c.(457-459)Ggc>Tgc	p.G153C	HMGCS2_ENST00000544913.2_Missense_Mutation_p.G153C|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	153					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TCAGTATTGCCTGAATCCTGG	0.517													A	120306897	C	A	120306897	3	1	364	1	0	0	0	0	1	0	0	0	7288	681	24	4	1101	4	HMGCS2	1	120306897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5127	120306897	128943724	877	24379											
REG4	83998	broad.mit.edu	37	chr1	120337242	120337242	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaatcttgattcttgctcTatggtcggtacttgcacagg	8	14	10	9	1	3	2	0	1	3	1	4	2	3	2	0	3	3	3	0	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120337242T>C	ENST00000354219.1	-	7	915	c.476A>G	c.(475-477)tAg>tGg	p.*159W	REG4_ENST00000530654.1_3'UTR|REG4_ENST00000256585.5_Nonstop_Mutation_p.*159W	NM_001159352.1	NP_001152824.1	Q9BYZ8	REG4_HUMAN	regenerating islet-derived family, member 4	0						extracellular region	sugar binding			central_nervous_system(1)|large_intestine(1)|lung(8)|ovary(2)|prostate(1)|skin(2)	15	all_cancers(5;4.81e-10)|all_epithelial(5;7.98e-11)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;8.1e-07)|Lung NSC(69;5.89e-06)|all_epithelial(167;0.000959)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0588)		ATTCTTGCTCTATGGTCGGTA	0.438													C	120337242	T	C	120337242	4	2	364	1	0	0	0	0	0	0	0	0	13302	1535	53	3	4	3	REG4	1	120337242	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30345	120337242	128913379	878	24380											
ADAM30	11085	broad.mit.edu	37	chr1	120437333	120437333	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actttcacactttttaaaatTtcgaattcctgtaatctcac	12	17	2	10	1	2	0	2	0	1	0	5	1	3	0	1	0	0	1	1	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120437333T>C	ENST00000369400.1	-	1	1785	c.1627A>G	c.(1627-1629)Aat>Gat	p.N543D		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	543	Cys-rich.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTTTAAAATTTCGAATTCCT	0.378													C	120437333	T	C	120437333	3	2	364	1	0	0	0	0	1	0	0	0	248	1841	64	3	749	3	ADAM30	1	120437333	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100091	120437333	128813288	879	24381											
ADAM30	11085	broad.mit.edu	37	chr1	120438116	120438116	+	Frame_Shift_Del	DEL	T	T	-																															caggcgagcatttaatacacTttttttatatattacaaatc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438116delT	ENST00000369400.1	-	1	1002	c.844delA	c.(844-846)agtfs	p.S282fs		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	282	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		TTTAATACACTTTTTTTATAT	0.343													-	120438116	T	-	120438116	7	5	364	1	0	1	0	1	0	0	0	0	248	1609	56	0	1532	0	ADAM30	1	120438116	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	783	120438116	128812505	880	24382											
ADAM30	11085	broad.mit.edu	37	chr1	120438761	120438761	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcttgccttttaactGcagtaggtaggacacgggac	8	12	12	9	1	1	0	0	0	1	0	1	2	1	2	1	3	4	4	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120438761G>A	ENST00000369400.1	-	1	357	c.199C>T	c.(199-201)Cag>Tag	p.Q67*		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	67					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		CCTTTTAACTGCAGTAGGTAG	0.542													A	120438761	G	A	120438761	4	1	364	1	0	0	0	0	0	1	0	0	248	1328	46	2	2177	2	ADAM30	1	120438761	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	645	120438761	128811860	881	24383											
NOTCH2	4853	broad.mit.edu	37	chr1	120458048	120458048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatctgaccagtcagaagCagagtggggtgatgaacttg	12	8	13	8	0	2	5	1	3	1	2	2	5	2	5	1	2	2	1	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120458048C>T	ENST00000256646.2	-	34	7516	c.7297G>A	c.(7297-7299)Gct>Act	p.A2433T		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	2433					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CAGTCAGAAGCAGAGTGGGGT	0.597			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120458048	C	T	120458048	3	4	364	1	0	0	0	0	1	0	0	0	10624	710	25	2	122	2	NOTCH2	1	120458048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19287	120458048	128792573	882	24384											
NOTCH2	4853	broad.mit.edu	37	chr1	120464876	120464876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcagccccacagcatcCtgtcccactggctcacgacg	8	8	7	18	2	2	0	2	0	0	0	4	1	4	0	4	1	3	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120464876C>A	ENST00000256646.2	-	28	5415	c.5196G>T	c.(5194-5196)caG>caT	p.Q1732H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1732					anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCACAGCATCCTGTCCCACTG	0.468			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				A	120464876	C	A	120464876	3	1	364	1	0	0	0	0	1	0	0	0	10624	680	24	4	2247	4	NOTCH2	1	120464876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6828	120464876	128785745	883	24385											
NOTCH2	4853	broad.mit.edu	37	chr1	120466300	120466300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccaggaagggatctgcGtgtcatcctctgtttcttca	7	14	9	11	1	6	0	3	0	3	0	7	2	7	2	2	2	1	1	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120466300G>A	ENST00000256646.2	-	26	5038	c.4819C>T	c.(4819-4821)Cgc>Tgc	p.R1607C	NOTCH2_ENST00000493703.1_5'UTR	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1607	Negative regulatory region (NRR).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGATCTGCGTGTCATCCTC	0.488			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				A	120466300	G	A	120466300	3	1	364	1	0	0	0	0	1	0	0	0	10624	1145	40	1	2632	1	NOTCH2	1	120466300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1424	120466300	128784321	884	24386											
NOTCH2	4853	broad.mit.edu	37	chr1	120491630	120491630	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacacccatgttcttacCttgccagccaggagcacaca	10	8	6	17	0	1	0	0	0	1	0	2	1	2	1	5	1	4	2	5	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:120491630C>A	ENST00000256646.2	-	16	2818	c.2599G>T	c.(2599-2601)Ggt>Tgt	p.G867C		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	867	EGF-like 22.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGTTCTTACCTTGCCAGCCA	0.458			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	120491630	C	A	120491630	5	1	364	1	0	0	0	0	0	0	1	0	10624	695	24	4	4892	4	NOTCH2	1	120491630	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25330	120491630	128758991	885	24387											
PDE4DIP	9659	broad.mit.edu	37	chr1	144865846	144865846	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttgagcctgaagtcttcGattgtcttccctgaggactc	7	13	10	11	1	2	3	0	3	2	0	5	5	3	4	2	1	1	1	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144865846G>A	ENST00000369359.4	-	38	6180	c.6142C>T	c.(6142-6144)Cga>Tga	p.R2048*	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R1806*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R1912*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R1997*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1912					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGAAGTCTTCGATTGTCTTCC	0.478			T	PDGFRB	MPD								A	144865846	G	A	144865846	4	1	364	1	0	0	0	0	0	1	0	0	11719	1066	37	1	1346	1	PDE4DIP	1	144865846	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24374216	144865846	104384775	886	24388											
PDE4DIP	9659	broad.mit.edu	37	chr1	144871767	144871767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaccactggtgtctcaCagcagccaaggaggagaggg	12	4	16	9	0	1	2	1	0	1	2	2	5	1	3	2	5	2	1	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871767C>T	ENST00000369359.4	-	35	5641	c.5603G>A	c.(5602-5604)tGt>tAt	p.C1868Y	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.C1732Y|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.C1732Y|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.C1817Y			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1732					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TGGTGTCTCACAGCAGCCAAG	0.577			T	PDGFRB	MPD								T	144871767	C	T	144871767	3	4	364	1	0	0	0	0	1	0	0	0	11719	478	17	2	1897	2	PDE4DIP	1	144871767	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5921	144871767	104378854	887	24389											
PDE4DIP	9659	broad.mit.edu	37	chr1	144871856	144871856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaggaaggctagccagCttgggtatggagtgaaaatg	11	8	16	6	0	0	2	0	2	0	0	0	4	0	4	2	4	2	3	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144871856C>A	ENST00000369359.4	-	35	5552	c.5514G>T	c.(5512-5514)aaG>aaT	p.K1838N	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.K1702N|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.K1702N|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.K1787N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1702					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGCTAGCCAGCTTGGGTATGG	0.488			T	PDGFRB	MPD								A	144871856	C	A	144871856	3	1	364	1	0	0	0	0	1	0	0	0	11719	796	28	4	1986	4	PDE4DIP	1	144871856	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89	144871856	104378765	888	24390											
PDE4DIP	9659	broad.mit.edu	37	chr1	144904624	144904624	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaaacagcctctctcttaCctctctggatgggcatggaa	12	10	8	11	0	3	0	0	0	3	0	5	2	3	2	2	3	3	1	2	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144904624C>A	ENST00000529945.1	-	16	3616		c.e16+1		PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Splice_Site|PDE4DIP_ENST00000369356.4_Splice_Site|PDE4DIP_ENST00000313382.9_Splice_Site|PDE4DIP_ENST00000479408.2_Splice_Site|PDE4DIP_ENST00000369349.3_Splice_Site|PDE4DIP_ENST00000369354.3_Splice_Site|PDE4DIP_ENST00000530740.1_Splice_Site|PDE4DIP_ENST00000369351.3_Splice_Site|PDE4DIP_ENST00000369359.4_Splice_Site			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein						cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCTCTCTTACCTCTCTGGAT	0.373			T	PDGFRB	MPD								A	144904624	C	A	144904624	5	1	364	1	0	0	0	0	0	0	1	0	11719	521	18	4	4462	4	PDE4DIP	1	144904624	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32768	144904624	104345997	889	24391											
PDE4DIP	9659	broad.mit.edu	37	chr1	144906421	144906421	+	Splice_Site	SNP	C	C	A																															tttaaaaagttttgaaagacCtttatgagatcttctttaat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906421C>A	ENST00000529945.1	-	14	3364	c.2925G>T	c.(2923-2925)aaG>aaT	p.K975N	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Splice_Site_p.K975N|PDE4DIP_ENST00000369356.4_Splice_Site_p.K812N|PDE4DIP_ENST00000313382.9_Splice_Site_p.K878N|PDE4DIP_ENST00000479408.2_Splice_Site_p.K599N|PDE4DIP_ENST00000369349.3_Splice_Site_p.K812N|PDE4DIP_ENST00000369354.3_Splice_Site_p.K812N|PDE4DIP_ENST00000530740.1_Splice_Site_p.K949N|PDE4DIP_ENST00000369351.3_Splice_Site_p.K812N|PDE4DIP_ENST00000369359.4_Splice_Site_p.K949N			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	812					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TTTGAAAGACCTTTATGAGAT	0.443			T	PDGFRB	MPD								A	144906421	C	A	144906421	5	1	364	1	0	0	0	0	0	0	1	0	11719	695	24	4	4722	4	PDE4DIP	1	144906421	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1797	144906421	104344200	890	24392	41	2									
PDE4DIP	9659	broad.mit.edu	37	chr1	144906428	144906428	+	Missense_Mutation	SNP	A	A	T																															agttttgaaagacctttatgAgatcttctttaatctgtatg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144906428A>T	ENST00000529945.1	-	14	3357	c.2918T>A	c.(2917-2919)cTc>cAc	p.L973H	PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.L973H|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.L810H|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.L876H|PDE4DIP_ENST00000479408.2_Missense_Mutation_p.L597H|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369354.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.L947H|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.L810H|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.L947H			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	810					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GACCTTTATGAGATCTTCTTT	0.443			T	PDGFRB	MPD								T	144906428	A	T	144906428	3	4	364	1	0	0	0	0	1	0	0	0	11719	304	11	5	4729	5	PDE4DIP	1	144906428	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7	144906428	104344193	891	24393	41	2									
PDE4DIP	9659	broad.mit.edu	37	chr1	144918898	144918898	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgttttgttcctgggttcGaatctcattgtatttttcag	6	20	9	6	1	2	0	2	0	1	0	5	2	3	0	1	1	0	4	1	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144918898G>A	ENST00000529945.1	-	6	2216	c.1777C>T	c.(1777-1779)Cga>Tga	p.R593*	PDE4DIP_ENST00000313431.9_Nonsense_Mutation_p.R593*|PDE4DIP_ENST00000369356.4_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000313382.9_Nonsense_Mutation_p.R496*|PDE4DIP_ENST00000479408.2_Nonsense_Mutation_p.R217*|PDE4DIP_ENST00000369349.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369354.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000530740.1_Nonsense_Mutation_p.R567*|PDE4DIP_ENST00000369351.3_Nonsense_Mutation_p.R430*|PDE4DIP_ENST00000369359.4_Nonsense_Mutation_p.R567*			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	430					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		TCCTGGGTTCGAATCTCATTG	0.438			T	PDGFRB	MPD								A	144918898	G	A	144918898	4	1	364	1	0	0	0	0	0	1	0	0	11719	1066	37	1	5902	1	PDE4DIP	1	144918898	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12470	144918898	104331723	892	24394											
PDE4DIP	9659	broad.mit.edu	37	chr1	144930903	144930903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaacaacagtcacactttCcaagttcctttgcacttctc	10	13	4	14	0	2	1	1	1	1	0	5	1	4	1	2	0	3	2	2	0	3	4	rs139265814		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144930903C>T	ENST00000529945.1	-	1	1245	c.806G>A	c.(805-807)gGa>gAa	p.G269E	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.G269E|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	1472					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GTCACACTTTCCAAGTTCCTT	0.478			T	PDGFRB	MPD								T	144930903	C	T	144930903	3	4	364	1	0	0	0	0	1	0	0	0	11719	855	30	2	6893	2	PDE4DIP	1	144930903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12005	144930903	104319718	893	24395											
PDE4DIP	9659	broad.mit.edu	37	chr1	144931569	144931569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttgctgcaagcgaactcgGctttgccatcgcgggggaca	8	8	13	12	4	0	0	0	0	0	0	2	2	0	1	1	3	5	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:144931569G>A	ENST00000529945.1	-	1	579	c.140C>T	c.(139-141)gCc>gTc	p.A47V	PDE4DIP_ENST00000313431.9_Missense_Mutation_p.A47V|PDE4DIP_ENST00000369356.4_Intron|PDE4DIP_ENST00000313382.9_Intron|PDE4DIP_ENST00000479408.2_Intron|PDE4DIP_ENST00000369349.3_Intron|PDE4DIP_ENST00000369354.3_Intron|PDE4DIP_ENST00000530740.1_Intron|PDE4DIP_ENST00000369351.3_Intron|PDE4DIP_ENST00000369359.4_Intron			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	0					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		AGCGAACTCGGCTTTGCCATC	0.537			T	PDGFRB	MPD								A	144931569	G	A	144931569	3	1	364	1	0	0	0	0	1	0	0	0	11719	1203	42	2	7559	2	PDE4DIP	1	144931569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	666	144931569	104319052	894	24396											
SEC22B	9554	broad.mit.edu	37	chr1	145115738	145115738	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcctctttgacagcatTggattcaaaggctaacaatt	11	16	6	8	0	2	1	1	1	1	0	3	2	3	2	1	2	2	2	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145115738T>C	ENST00000453618.1	+	0	824							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TTGACAGCATTGGATTCAAAG	0.388													C	145115738	T	C	145115738	1	2	364	0	1	0	0	0	0	0	0	0	14082	1821	63	3		3	SEC22B	1	145115738	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	184169	145115738	104134883	895	24397											
TXNIP	10628	broad.mit.edu	37	chr1	145440773	145440773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgggtagatctgaacatcCctgataccccagaaggtgag	11	9	12	9	0	1	5	0	3	1	2	2	5	2	5	3	2	2	2	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145440773C>A	ENST00000369317.4	+	6	1307	c.973C>A	c.(973-975)Cct>Act	p.P325T	TXNIP_ENST00000475171.1_Intron	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	325					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TCTGAACATCCCTGATACCCC	0.498													A	145440773	C	A	145440773	3	1	364	1	0	0	0	0	1	0	0	0	16905	623	22	4	995	4	TXNIP	1	145440773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325035	145440773	103809848	896	24398											
TXNIP	10628	broad.mit.edu	37	chr1	145441193	145441193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttaggtggatccctGcatcctcaacaacaatgtgc	9	13	7	12	0	2	0	1	0	1	0	4	1	4	1	2	2	4	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145441193G>A	ENST00000369317.4	+	8	1485	c.1151G>A	c.(1150-1152)tGc>tAc	p.C384Y	TXNIP_ENST00000475171.1_3'UTR	NM_006472.3	NP_006463.3	Q9H3M7	TXNIP_HUMAN	thioredoxin interacting protein	384					cell cycle|keratinocyte differentiation|transcription, DNA-dependent		ubiquitin protein ligase binding			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	21	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTGGATCCCTGCATCCTCAAC	0.383													A	145441193	G	A	145441193	3	1	364	1	0	0	0	0	1	0	0	0	16905	1319	46	2	1181	2	TXNIP	1	145441193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420	145441193	103809428	897	24399											
ITGA10	8515	broad.mit.edu	37	chr1	145527702	145527702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggatacagtgtcttacaaCatgttgggggtggacagcga	10	11	14	6	1	1	0	0	0	1	0	1	3	1	2	0	4	4	1	0	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145527702C>T	ENST00000369304.3	+	2	317	c.142C>T	c.(142-144)Cat>Tat	p.H48Y	ITGA10_ENST00000538811.1_Silent_p.N22N|ITGA10_ENST00000539363.1_Intron	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	48					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGTCTTACAACATGTTGGGGG	0.537													T	145527702	C	T	145527702	3	4	364	1	0	0	0	0	1	0	0	0	7931	478	17	2	148	2	ITGA10	1	145527702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86509	145527702	103722919	898	24400											
ITGA10	8515	broad.mit.edu	37	chr1	145533899	145533899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgttcctgggaccccaGaacaaggaaacaggacgtgt	12	6	11	12	1	0	1	0	0	0	1	1	4	1	4	4	3	2	1	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145533899G>T	ENST00000369304.3	+	13	1720	c.1545G>T	c.(1543-1545)caG>caT	p.Q515H	ITGA10_ENST00000538811.1_Missense_Mutation_p.Q384H|ITGA10_ENST00000539363.1_Missense_Mutation_p.Q372H	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	515					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TGGGACCCCAGAACAAGGAAA	0.532													T	145533899	G	T	145533899	3	4	364	1	0	0	0	0	1	0	0	0	7931	933	33	4	1595	4	ITGA10	1	145533899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6197	145533899	103716722	899	24401											
POLR3C	10623	broad.mit.edu	37	chr1	145595181	145595181	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcacagtatataaatagaAggtcctggatggggcatggt	12	11	13	5	0	1	1	1	0	0	1	2	2	2	2	1	5	0	3	1	5	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145595181A>C	ENST00000334163.3	-	12	1421	c.1261T>G	c.(1261-1263)Ttc>Gtc	p.F421V	POLR3C_ENST00000369294.1_Intron	NM_006468.6	NP_006459.3	Q9BUI4	RPC3_HUMAN	polymerase (RNA) III (DNA directed) polypeptide C (62kD)	421					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|regulation of transcription from RNA polymerase III promoter|response to virus	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)		Epithelial(2;7.55e-13)			TATAAATAGAAGGTCCTGGAT	0.423													C	145595181	A	C	145595181	3	2	364	1	0	0	0	0	1	0	0	0	12307	72	3	5	359	5	POLR3C	1	145595181	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	61282	145595181	103655440	900	24402											
GPR89A	653519	broad.mit.edu	37	chr1	145765405	145765405	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacaatgacattggaGgacttactgctagagatggc	13	8	13	7	0	0	2	0	1	0	1	0	6	0	5	0	4	3	2	0	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:145765405G>T	ENST00000313835.9	-	13	1268	c.1125C>A	c.(1123-1125)tcC>tcA	p.S375S	GPR89A_ENST00000462900.2_Silent_p.S350S|GPR89A_ENST00000534502.1_Silent_p.S350S|GPR89A_ENST00000454423.3_Silent_p.S255S			B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89A	375					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			breast(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			TGACATTGGAGGACTTACTGC	0.348													T	145765405	G	T	145765405	2	4	364	1	0	0	0	0	0	0	0	1	6772	987	35	4		4	GPR89A	1	145765405	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170224	145765405	103485216	901	24403											
CHD1L	9557	broad.mit.edu	37	chr1	146736231	146736231	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccaggatattgagaaaGaatctgagtcaggcaagttc	14	9	11	7	0	2	3	1	2	1	2	3	5	2	4	1	2	1	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146736231G>T	ENST00000369258.4	+	7	747	c.727G>T	c.(727-729)Gaa>Taa	p.E243*	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Nonsense_Mutation_p.E243*|CHD1L_ENST00000361293.5_Intron|CHD1L_ENST00000369259.3_Intron	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	243					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					TATTGAGAAAGAATCTGAGTC	0.453													T	146736231	G	T	146736231	4	4	364	1	0	0	0	0	0	1	0	0	3354	943	33	4	753	4	CHD1L	1	146736231	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	970826	146736231	102514390	902	24404											
CHD1L	9557	broad.mit.edu	37	chr1	146739147	146739147	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattttgtcccagcttcgaAagtgtgtggatcacccatat	10	13	8	10	1	1	0	1	0	0	0	3	2	2	1	2	1	1	1	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:146739147A>C	ENST00000369258.4	+	9	978	c.958A>C	c.(958-960)Aag>Cag	p.K320Q	CHD1L_ENST00000467213.1_3'UTR|CHD1L_ENST00000431239.1_Missense_Mutation_p.K320Q|CHD1L_ENST00000361293.5_Missense_Mutation_p.K39Q|CHD1L_ENST00000369259.3_Missense_Mutation_p.K116Q	NM_001256336.1|NM_004284.4|NM_024568.2	NP_001243265.1|NP_004275.4|NP_078844.2	Q86WJ1	CHD1L_HUMAN	chromodomain helicase DNA binding protein 1-like	320					chromatin remodeling|DNA repair	cytoplasm|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(923;0.0487)					CCAGCTTCGAAAGTGTGTGGA	0.373													C	146739147	A	C	146739147	3	2	364	1	0	0	0	0	1	0	0	0	3354	15	1	5	992	5	CHD1L	1	146739147	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2916	146739147	102511474	903	24405											
BCL9	607	broad.mit.edu	37	chr1	147090775	147090775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcctgccgcacccccaCgtcccctggaccgggagagt	7	4	11	19	3	0	1	0	0	0	1	1	3	1	2	8	2	2	1	8	2	1	0	rs143556015	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147090775C>T	ENST00000234739.3	+	8	1554	c.814C>T	c.(814-816)Cgt>Tgt	p.R272C		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	272	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CGCACCCCCACGTCCCCTGGA	0.612			T	"IGH@, IGL@"	B-ALL								T	147090775	C	T	147090775	3	4	364	1	0	0	0	0	1	0	0	0	1386	536	19	1	832	1	BCL9	1	147090775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351628	147090775	102159846	904	24406											
GJA8	2703	broad.mit.edu	37	chr1	147380253	147380253	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttcgtgtgcaacacccaGcagcctggctgcgagaacgt	9	7	12	13	3	0	1	0	0	0	1	1	3	0	1	2	1	6	3	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380253G>A	ENST00000240986.4	+	2	224	c.171G>A	c.(169-171)caG>caA	p.Q57Q	GJA8_ENST00000369235.1_Silent_p.Q57Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	57					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GCAACACCCAGCAGCCTGGCT	0.597													A	147380253	G	A	147380253	2	1	364	1	0	0	0	0	0	0	0	1	6461	962	34	2		2	GJA8	1	147380253	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	289478	147380253	101870368	905	24407											
GJA8	2703	broad.mit.edu	37	chr1	147380559	147380559	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccacatcatcttcaagacCctctttgaagtgggcttcat	9	13	7	12	0	5	2	3	1	2	1	5	2	5	2	2	1	1	1	2	1	2	3	rs144568061		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147380559C>T	ENST00000240986.4	+	2	530	c.477C>T	c.(475-477)acC>acT	p.T159T	GJA8_ENST00000369235.1_Silent_p.T159T	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	159					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					TCTTCAAGACCCTCTTTGAAG	0.597													T	147380559	C	T	147380559	2	4	364	1	0	0	0	0	0	0	0	1	6461	610	22	2		2	GJA8	1	147380559	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	306	147380559	101870062	906	24408											
GPR89B	51463	broad.mit.edu	37	chr1	147408777	147408777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgggtggcttttcttcatgCgccaattgtttaaagactat	8	17	9	7	1	2	1	1	0	1	1	2	1	2	1	1	2	1	2	1	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:147408777C>T	ENST00000314163.7	+	2	223	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C		NM_016334.3	NP_057418.1	B7ZAQ6	GPHRA_HUMAN	G protein-coupled receptor 89B	27					intracellular pH reduction|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein transport	Golgi cisterna membrane|Golgi-associated vesicle membrane|integral to membrane	signal transducer activity|voltage-gated anion channel activity			large_intestine(1)	1	all_hematologic(923;0.0276)					TTTCTTCATGCGCCAATTGTT	0.299													T	147408777	C	T	147408777	3	4	364	1	0	0	0	0	1	0	0	0	6773	768	27	1	85	1	GPR89B	1	147408777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28218	147408777	101841844	907	24409											
NBPF14	25832	broad.mit.edu	37	chr1	148025802	148025802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctctgcaagcttctcCtccttgaactgtcgctcatt	6	14	7	14	1	3	1	1	1	2	0	6	1	4	1	2	0	5	5	2	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148025802C>A	ENST00000369219.1	-	1	46	c.30G>T	c.(28-30)gaG>gaT	p.E10D				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	10						cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CAAGCTTCTCCTCCTTGAACT	0.522													A	148025802	C	A	148025802	3	1	364	1	0	0	0	0	1	0	0	0	10270	680	24	4	2823	4	NBPF14	1	148025802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	617025	148025802	101224819	908	24410											
NBPF15	284565	broad.mit.edu	37	chr1	148594505	148594505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaacctgactcattccaGcactacagaagtgtgtttta	13	11	7	10	0	1	2	1	1	0	1	2	3	2	2	2	0	4	2	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:148594505G>T	ENST00000442702.2	+	21	2945	c.1878G>T	c.(1876-1878)caG>caT	p.Q626H	NBPF15_ENST00000369187.3_Missense_Mutation_p.Q626H	NM_001170755.1	NP_001164226.1	Q8N660	NBPFF_HUMAN	neuroblastoma breakpoint family, member 15	626	NBPF 6.					cytoplasm				NS(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12	all_hematologic(923;0.032)					ACTCATTCCAGCACTACAGAA	0.448													T	148594505	G	T	148594505	3	4	364	1	0	0	0	0	1	0	0	0	10271	962	34	4	1936	4	NBPF15	1	148594505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	568703	148594505	100656116	909	24411											
SV2A	9900	broad.mit.edu	37	chr1	149877520	149877520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaaaaggcagagcagagCgatcatggccgactcactgt	13	5	12	11	2	2	2	2	0	0	2	2	4	2	2	2	2	2	2	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149877520C>T	ENST00000369146.3	-	12	2447	c.1957G>A	c.(1957-1959)Gct>Act	p.A653T	SV2A_ENST00000369145.1_Missense_Mutation_p.A653T	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	653					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	CAGAGCAGAGCGATCATGGCC	0.547													T	149877520	C	T	149877520	3	4	364	1	0	0	0	0	1	0	0	0	15513	768	27	1	279	1	SV2A	1	149877520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1283015	149877520	99373101	910	24412											
SV2A	9900	broad.mit.edu	37	chr1	149880744	149880744	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacccatctcctcacCtgaatgacatggtgaaccac	11	7	6	17	0	2	3	1	3	1	0	3	3	2	3	5	1	2	0	5	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149880744C>A	ENST00000369146.3	-	8	1869	c.1379G>T	c.(1378-1380)aGc>aTc	p.S460I	SV2A_ENST00000369145.1_Splice_Site_p.S460I	NM_001278719.1|NM_014849.3	NP_001265648.1|NP_055664.3	Q7L0J3	SV2A_HUMAN	synaptic vesicle glycoprotein 2A	460					neurotransmitter transport	cell junction|endoplasmic reticulum|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(6)|pancreas(1)|prostate(8)|skin(2)|urinary_tract(2)	55	Breast(34;0.00769)|all_hematologic(923;0.127)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		Levetiracetam(DB01202)	ATCTCCTCACCTGAATGACAT	0.557													A	149880744	C	A	149880744	5	1	364	1	0	0	0	0	0	0	1	0	15513	695	24	4	873	4	SV2A	1	149880744	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3224	149880744	99369877	911	24413											
MTMR11	10903	broad.mit.edu	37	chr1	149903850	149903850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccttgaagtattacaGaacgaaccctggatgtcact	13	10	7	11	1	2	2	2	1	0	1	2	4	2	3	2	1	3	1	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149903850G>T	ENST00000439741.2	-	12	1359	c.1109C>A	c.(1108-1110)tCt>tAt	p.S370Y	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.S342Y|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.S298Y	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	370	Myotubularin phosphatase.						phosphatase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			AAGTATTACAGAACGAACCCT	0.478													T	149903850	G	T	149903850	3	4	364	1	0	0	0	0	1	0	0	0	10016	942	33	4	1083	4	MTMR11	1	149903850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23106	149903850	99346771	912	24414											
MTMR11	10903	broad.mit.edu	37	chr1	149905806	149905806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctcactgtccagaattCggttagggacccagaagtaa	12	9	10	10	1	1	3	1	1	0	2	3	4	2	4	3	2	0	2	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:149905806C>T	ENST00000439741.2	-	8	963	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000406732.3_Missense_Mutation_p.R210Q|MTMR11_ENST00000361405.6_Intron|MTMR11_ENST00000369140.3_Missense_Mutation_p.R166Q	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	238	Myotubularin phosphatase.						phosphatase activity	p.R238Q(2)|p.R166Q(2)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			GTCCAGAATTCGGTTAGGGAC	0.483													T	149905806	C	T	149905806	3	4	364	1	0	0	0	0	1	0	0	0	10016	884	31	1	1495	1	MTMR11	1	149905806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1956	149905806	99344815	913	24415											
VPS45	11311	broad.mit.edu	37	chr1	150040755	150040755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgtacctctttgaacgCattgattctcaaaatcgaga	13	12	8	8	2	2	3	1	2	2	1	4	5	2	3	1	0	2	2	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150040755C>T	ENST00000369130.3	+	2	708	c.162C>T	c.(160-162)cgC>cgT	p.R54R	VPS45_ENST00000535106.1_Silent_p.R54R|VPS45_ENST00000369128.5_Silent_p.R18R	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	54					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCTTTGAACGCATTGATTCTC	0.398													T	150040755	C	T	150040755	2	4	364	1	0	0	0	0	0	0	0	1	17313	697	25	2		2	VPS45	1	150040755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134949	150040755	99209866	914	24416											
VPS45	11311	broad.mit.edu	37	chr1	150048339	150048339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgatcagcaagagtgaCgtgaagtcattggctgaagc	13	9	13	6	1	2	5	2	4	0	1	2	5	2	5	0	1	2	2	0	1	4	1	rs150076399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150048339C>T	ENST00000369130.3	+	4	864	c.318C>T	c.(316-318)gaC>gaT	p.D106D	VPS45_ENST00000535106.1_Silent_p.D106D|VPS45_ENST00000369128.5_Silent_p.D70D	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	106					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCAAGAGTGACGTGAAGTCAT	0.413													T	150048339	C	T	150048339	2	4	364	1	0	0	0	0	0	0	0	1	17313	535	19	1		1	VPS45	1	150048339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7584	150048339	99202282	915	24417											
VPS45	11311	broad.mit.edu	37	chr1	150082692	150082692	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataacctgaaccgcaccacTcctggagtgaggattgtcct	10	10	9	12	1	0	2	0	2	0	0	2	4	2	4	5	2	2	1	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150082692T>C	ENST00000369130.3	+	14	2121	c.1575T>C	c.(1573-1575)acT>acC	p.T525T	VPS45_ENST00000484306.1_3'UTR|VPS45_ENST00000369128.5_Silent_p.T420T|VPS45_ENST00000535106.1_3'UTR	NM_001279354.1|NM_007259.3	NP_001266283.1|NP_009190.2	Q9NRW7	VPS45_HUMAN	vacuolar protein sorting 45 homolog (S. cerevisiae)	525					blood coagulation|intracellular protein transport|vesicle docking involved in exocytosis	endosome membrane|Golgi membrane|integral to membrane of membrane fraction				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	21	Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			ACCGCACCACTCCTGGAGTGA	0.443													C	150082692	T	C	150082692	2	2	364	1	0	0	0	0	0	0	0	1	17313	1538	54	3		3	VPS45	1	150082692	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34353	150082692	99167929	916	24418											
PLEKHO1	51177	broad.mit.edu	37	chr1	150128391	150128391	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccactccaaacagccCggtaacacggtatgtttctc	9	10	7	15	2	1	0	0	0	1	0	3	0	2	0	3	2	4	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150128391C>T	ENST00000369124.4	+	3	587	c.309C>T	c.(307-309)ccC>ccT	p.P103P	PLEKHO1_ENST00000369126.1_5'UTR|PLEKHO1_ENST00000025469.6_Silent_p.P103P|PLEKHO1_ENST00000479194.1_3'UTR	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	103	PH.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCAAACAGCCCGGTAACACGG	0.527													T	150128391	C	T	150128391	2	4	364	1	0	0	0	0	0	0	0	1	12161	639	23	1		1	PLEKHO1	1	150128391	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45699	150128391	99122230	917	24419											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131488	150131488	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggactgggagatgggaagCgaaaggccaaggacccccct	12	3	16	10	1	0	1	0	0	0	1	0	6	0	4	4	5	1	0	4	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150131488C>T	ENST00000369124.4	+	6	1278	c.1000C>T	c.(1000-1002)Cga>Tga	p.R334*	PLEKHO1_ENST00000369126.1_Nonsense_Mutation_p.R151*|PLEKHO1_ENST00000025469.6_Nonsense_Mutation_p.R300*	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	334	Negative regulator of AP-1 activity.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGATGGGAAGCGAAAGGCCAA	0.617													T	150131488	C	T	150131488	4	4	364	1	0	0	0	0	0	1	0	0	12161	760	27	1	1022	1	PLEKHO1	1	150131488	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3097	150131488	99119133	918	24420											
RPRD2	23248	broad.mit.edu	37	chr1	150337373	150337373	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtactatcgtctatcaTtggatgaagtggctccggag	10	11	11	9	2	2	1	1	1	1	0	4	3	3	3	1	3	1	2	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150337373T>G	ENST00000401000.4	+	1	248	c.183T>G	c.(181-183)caT>caG	p.H61Q	RPRD2_ENST00000369068.4_Missense_Mutation_p.H61Q|RPRD2_ENST00000539519.1_Missense_Mutation_p.H61Q|RPRD2_ENST00000369067.3_Missense_Mutation_p.H61Q|RPRD2_ENST00000492220.1_Intron			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	61	CID.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						TCGTCTATCATTGGATGAAGT	0.483													G	150337373	T	G	150337373	3	3	364	1	0	0	0	0	1	0	0	0	13708	1490	52	5	185	5	RPRD2	1	150337373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205885	150337373	98913248	919	24421											
RPRD2	23248	broad.mit.edu	37	chr1	150443996	150443996	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccagccaaatctatcCtgaaatcaagcaagctgtct	16	8	6	11	0	3	2	1	1	2	1	4	2	4	2	3	0	4	2	3	0	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150443996C>A	ENST00000401000.4	+	10	2559	c.2494C>A	c.(2494-2496)Ctg>Atg	p.L832M	RPRD2_ENST00000369068.4_Missense_Mutation_p.L858M|RPRD2_ENST00000539519.1_Missense_Mutation_p.L832M|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	858	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						CAAATCTATCCTGAAATCAAG	0.468													A	150443996	C	A	150443996	3	1	364	1	0	0	0	0	1	0	0	0	13708	680	24	4	2614	4	RPRD2	1	150443996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106623	150443996	98806625	920	24422											
RPRD2	23248	broad.mit.edu	37	chr1	150444346	150444346	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtcccacatcgttccctTttctctccgcagaacaccct	7	11	4	19	2	1	1	0	0	1	1	6	1	4	1	5	0	1	2	5	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150444346T>G	ENST00000401000.4	+	10	2909	c.2844T>G	c.(2842-2844)ctT>ctG	p.L948L	RPRD2_ENST00000369068.4_Silent_p.L974L|RPRD2_ENST00000539519.1_Intron|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	974	Ser-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATCGTTCCCTTTTCTCTCCGC	0.567													G	150444346	T	G	150444346	2	3	364	1	0	0	0	0	0	0	0	1	13708	1828	64	5		5	RPRD2	1	150444346	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	350	150444346	98806275	921	24423											
RPRD2	23248	broad.mit.edu	37	chr1	150445293	150445293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagtggtgtccccttttCtactccaccccctcctccac	4	12	7	18	0	1	0	0	0	1	0	5	1	5	1	7	2	1	0	7	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445293C>T	ENST00000401000.4	+	10	3856	c.3791C>T	c.(3790-3792)tCt>tTt	p.S1264F	RPRD2_ENST00000369068.4_Missense_Mutation_p.S1290F|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1290	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						GTCCCCTTTTCTACTCCACCC	0.622													T	150445293	C	T	150445293	3	4	364	1	0	0	0	0	1	0	0	0	13708	913	32	2	3911	2	RPRD2	1	150445293	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	947	150445293	98805328	922	24424											
RPRD2	23248	broad.mit.edu	37	chr1	150445743	150445743	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacagtttaaagagacccaGgccaccttttgctaggggcc	10	9	10	12	0	1	1	1	0	0	1	1	2	1	1	4	3	1	2	4	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150445743G>T	ENST00000401000.4	+	10	4306	c.4241G>T	c.(4240-4242)aGg>aTg	p.R1414M	RPRD2_ENST00000369068.4_Missense_Mutation_p.R1440M|RPRD2_ENST00000492220.1_3'UTR			Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	1440	Pro-rich.						protein binding			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AAGAGACCCAGGCCACCTTTT	0.517													T	150445743	G	T	150445743	3	4	364	1	0	0	0	0	1	0	0	0	13708	1000	35	4	4361	4	RPRD2	1	150445743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450	150445743	98804878	923	24425											
TARS2	80222	broad.mit.edu	37	chr1	150469060	150469060	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagggtctgggaagcaTggagggaggaagcagaattg	11	7	19	4	0	1	2	0	1	1	1	1	6	1	6	0	5	3	3	0	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150469060T>C	ENST00000369064.3	+	8	911	c.877T>C	c.(877-879)Tgg>Cgg	p.W293R	TARS2_ENST00000369054.2_Intron|TARS2_ENST00000606933.1_Intron|TARS2_ENST00000463555.1_Intron|TARS2_ENST00000438568.2_3'UTR	NM_025150.3	NP_079426.2	Q9BW92	SYTM_HUMAN	threonyl-tRNA synthetase 2, mitochondrial (putative)	293					threonyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|threonine-tRNA ligase activity			cervix(1)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	35	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.51e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)		L-Threonine(DB00156)	CTGGGAAGCATGGAGGGAGGA	0.542													C	150469060	T	C	150469060	3	2	364	1	0	0	0	0	1	0	0	0	15657	1464	51	3	907	3	TARS2	1	150469060	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23317	150469060	98781561	924	24426											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525644	150525644	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccccttgtacaggacaCagtctcggggaaggggtggc	7	7	14	13	1	1	0	0	0	1	0	3	2	2	2	3	6	1	1	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525644C>T	ENST00000271643.4	+	5	585	c.349C>T	c.(349-351)Cag>Tag	p.Q117*	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369039.5_Nonsense_Mutation_p.Q117*|ADAMTSL4_ENST00000369038.2_Nonsense_Mutation_p.Q117*	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	117					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GTACAGGACACAGTCTCGGGG	0.667													T	150525644	C	T	150525644	4	4	364	1	0	0	0	0	0	1	0	0	277	479	17	2	359	2	ADAMTSL4	1	150525644	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56584	150525644	98724977	925	24427											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150525680	150525680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcccacttcgaggtcccGcttcccacctagggagagag	7	7	13	14	2	0	1	0	0	0	1	3	4	2	2	4	3	0	1	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150525680G>A	ENST00000271643.4	+	5	621	c.385G>A	c.(385-387)Gct>Act	p.A129T	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A129T|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A129T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	129					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCGAGGTCCCGCTTCCCACCT	0.662													A	150525680	G	A	150525680	3	1	364	1	0	0	0	0	1	0	0	0	277	1087	38	1	395	1	ADAMTSL4	1	150525680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36	150525680	98724941	926	24428											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150526083	150526083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagagcagagccattctccGcaaacggcagcccccaaact	13	4	8	16	2	1	2	0	0	1	2	2	2	1	2	4	1	5	3	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150526083G>A	ENST00000271643.4	+	6	852	c.616G>A	c.(616-618)Gca>Aca	p.A206T	RP11-54A4.2_ENST00000442435.2_RNA|ADAMTSL4_ENST00000369041.5_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.A206T|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.A206T	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	206					apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCATTCTCCGCAAACGGCAG	0.587													A	150526083	G	A	150526083	3	1	364	1	0	0	0	0	1	0	0	0	277	1087	38	1	630	1	ADAMTSL4	1	150526083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403	150526083	98724538	927	24429											
ENSA	2029	broad.mit.edu	37	chr1	150599945	150599945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactatgccccatacccCtttctggagtctcttcatga	9	12	7	13	0	3	2	1	1	2	1	4	4	3	3	4	1	2	0	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150599945C>A	ENST00000271690.8	-	2	287	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W	ENSA_ENST00000362052.7_Missense_Mutation_p.G61W|ENSA_ENST00000361631.5_Missense_Mutation_p.G57W|ENSA_ENST00000339643.5_Missense_Mutation_p.G61W|ENSA_ENST00000513281.1_Missense_Mutation_p.G57W|ENSA_ENST00000369014.5_Missense_Mutation_p.G61W|ENSA_ENST00000361532.5_Missense_Mutation_p.G57W|ENSA_ENST00000503241.1_Missense_Mutation_p.G61W|ENSA_ENST00000354702.3_5'UTR|ENSA_ENST00000369009.3_Missense_Mutation_p.G61W|ENSA_ENST00000503345.1_Missense_Mutation_p.G61W|ENSA_ENST00000356527.5_Missense_Mutation_p.G61W|ENSA_ENST00000369016.4_Missense_Mutation_p.G61W	NM_207044.1	NP_996927.1	O43768	ENSA_HUMAN	endosulfine alpha	61					cell division|G2/M transition of mitotic cell cycle|mitosis|response to nutrient|transport	cytoplasm	ion channel inhibitor activity|protein phosphatase 2A binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)	4	all_cancers(9;3.09e-52)|all_epithelial(9;4.47e-43)|all_lung(15;1.09e-34)|Lung NSC(24;4.04e-31)|Breast(34;0.000615)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;9.85e-23)|all cancers(9;5.06e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.67e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000701)|LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCATACCCCTTTCTGGAGT	0.483													A	150599945	C	A	150599945	3	1	364	1	0	0	0	0	1	0	0	0	5177	681	24	4	387	4	ENSA	1	150599945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73862	150599945	98650676	928	24430											
HORMAD1	84072	broad.mit.edu	37	chr1	150679047	150679047	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacttgtataatgctcctgTtcatcttctacatctttgtc	8	18	4	11	0	4	0	1	0	3	0	6	0	5	0	1	0	2	3	1	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150679047T>C	ENST00000368993.2	-	10	891	c.786A>G	c.(784-786)gaA>gaG	p.E262E	HORMAD1_ENST00000361824.2_Silent_p.E262E|HORMAD1_ENST00000322343.7_Silent_p.E255E|HORMAD1_ENST00000368995.4_Silent_p.E182E			Q86X24	HORM1_HUMAN	HORMA domain containing 1	262					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			AATGCTCCTGTTCATCTTCTA	0.303													C	150679047	T	C	150679047	2	2	364	1	0	0	0	0	0	0	0	1	7341	1722	60	3		3	HORMAD1	1	150679047	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79102	150679047	98571574	929	24431											
SETDB1	9869	broad.mit.edu	37	chr1	150935182	150935182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactcatggcttctgctcAgtccaaccctgatgtaagtc	10	11	8	12	0	3	2	2	1	1	1	5	2	4	2	2	1	2	3	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150935182A>G	ENST00000271640.5	+	18	3468	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	SETDB1_ENST00000368969.4_Missense_Mutation_p.Q1093R	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1093	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			GCTTCTGCTCAGTCCAACCCT	0.443													G	150935182	A	G	150935182	3	3	364	1	0	0	0	0	1	0	0	0	14231	188	7	3	3344	3	SETDB1	1	150935182	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	256135	150935182	98315439	930	24432											
SETDB1	9869	broad.mit.edu	37	chr1	150936218	150936218	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggccgctacctcaacGtgagacccctctccccacct	7	7	7	20	2	2	1	1	1	1	1	3	2	2	1	8	1	2	1	8	1	2	1	rs111660370		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:150936218G>A	ENST00000271640.5	+	20	3859		c.e20+1		CERS2_ENST00000561294.1_3'UTR|SETDB1_ENST00000368969.4_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTACCTCAACGTGAGACCCCT	0.468													A	150936218	G	A	150936218	5	1	364	1	0	0	0	0	0	0	1	0	14231	1159	40	1	3744	1	SETDB1	1	150936218	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1036	150936218	98314403	931	24433											
BNIPL	149428	broad.mit.edu	37	chr1	151011359	151011359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttgcggctgagtctgaCtaaggggcctggaaatgatg	10	9	16	6	1	1	4	0	3	1	1	1	5	1	5	1	4	1	2	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151011359C>T	ENST00000295294.7	+	4	653	c.44C>T	c.(43-45)aCt>aTt	p.T15I	BNIPL_ENST00000368931.3_Missense_Mutation_p.T97I	NM_001159642.1	NP_001153114.1	Q7Z465	BNIPL_HUMAN	BCL2/adenovirus E1B 19kD interacting protein like	97					apoptosis|induction of apoptosis|negative regulation of cell proliferation|regulation of growth rate	cytosol|nucleus	identical protein binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(1)|lung(4)|skin(1)	10	Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGAGTCTGACTAAGGGGCCT	0.582													T	151011359	C	T	151011359	3	4	364	1	0	0	0	0	1	0	0	0	1486	565	20	2	304	2	BNIPL	1	151011359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75141	151011359	98239262	932	24434											
SEMA6C	10500	broad.mit.edu	37	chr1	151105842	151105842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagtctcgatgtccttGccccgacgtcggtgggcgcg	3	8	15	15	7	1	0	0	0	1	0	4	3	2	1	4	3	1	0	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151105842G>A	ENST00000341697.3	-	19	3602	c.1911C>T	c.(1909-1911)ggC>ggT	p.G637G				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	637						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CGATGTCCTTGCCCCGACGTC	0.721													A	151105842	G	A	151105842	2	1	364	1	0	0	0	0	0	0	0	1	14134	1306	46	2		2	SEMA6C	1	151105842	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94483	151105842	98144779	933	24435											
SEMA6C	10500	broad.mit.edu	37	chr1	151108924	151108924	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaactccatcctgggtacCtgggtgagggaactctgtcc	9	9	11	12	0	1	1	0	1	1	0	4	2	4	2	4	3	4	1	4	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151108924C>A	ENST00000341697.3	-	12	2797	c.1106G>T	c.(1105-1107)aGg>aTg	p.R369M				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	369	Sema.					integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			TCCTGGGTACCTGGGTGAGGG	0.562													A	151108924	C	A	151108924	5	1	364	1	0	0	0	0	0	0	1	0	14134	695	24	4	1818	4	SEMA6C	1	151108924	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3082	151108924	98141697	934	24436											
TNFAIP8L2	79626	broad.mit.edu	37	chr1	151131470	151131470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctgcggcagggtgccatGacggcacttagctttggtga	8	9	15	9	2	0	2	0	2	0	0	0	2	0	2	1	4	4	4	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151131470G>A	ENST00000368910.3	+	2	423	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	99					innate immune response					lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGGGTGCCATGACGGCACTTA	0.617													A	151131470	G	A	151131470	3	1	364	1	0	0	0	0	1	0	0	0	16378	1290	45	2	299	2	TNFAIP8L2	1	151131470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22546	151131470	98119151	935	24437											
LYSMD1	388695	broad.mit.edu	37	chr1	151134363	151134363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacttcaccattggcacGtcctgctcctgtctcttgtt	5	14	9	13	1	2	0	1	0	1	0	5	2	4	1	3	2	1	3	3	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151134363G>A	ENST00000368908.5	-	2	1054	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	LYSMD1_ENST00000440902.2_Missense_Mutation_p.R84C	NM_212551.4	NP_997716.1	Q96S90	LYSM1_HUMAN	LysM, putative peptidoglycan-binding, domain containing 1	132					cell wall macromolecule catabolic process					endometrium(2)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCATTGGCACGTCCTGCTCCT	0.502													A	151134363	G	A	151134363	3	1	364	1	0	0	0	0	1	0	0	0	9195	1145	40	1	297	1	LYSMD1	1	151134363	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2893	151134363	98116258	936	24438											
VPS72	6944	broad.mit.edu	37	chr1	151149423	151149423	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcactaaaagtgatgaaGgtacgtgagcagcgagcagg	14	7	13	7	2	2	3	2	3	0	0	2	4	2	3	0	2	4	3	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151149423G>T	ENST00000354473.4	-	6	861	c.825C>A	c.(823-825)acC>acA	p.T275T	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	264					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AAGTGATGAAGGTACGTGAGC	0.557													T	151149423	G	T	151149423	2	4	364	1	0	0	0	0	0	0	0	1	17319	987	35	4		4	VPS72	1	151149423	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15060	151149423	98101198	937	24439											
PIP5K1A	8394	broad.mit.edu	37	chr1	151196880	151196880	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacaggattcttacatctcaTtggtaggctagaaattatgc	12	13	9	7	0	2	1	1	0	2	1	3	3	2	2	0	3	2	2	0	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151196880T>C	ENST00000368888.4	+	3	576	c.154T>C	c.(154-156)Ttg>Ctg	p.L52L	PIP5K1A_ENST00000441902.2_Intron|PIP5K1A_ENST00000409426.1_Intron|PIP5K1A_ENST00000368890.4_Intron	NM_001135638.1	NP_001129110.1	Q99755	PI51A_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, alpha	52					phospholipid biosynthetic process|signal transduction	endomembrane system|Golgi stack|lamellipodium|nuclear speck	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|kinase binding			breast(1)|central_nervous_system(1)|ovary(1)|skin(1)|stomach(1)	5	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.181)			TTACATCTCATTGGTAGGCTA	0.289													C	151196880	T	C	151196880	2	2	364	1	0	0	0	0	0	0	0	1	12016	1490	52	3		3	PIP5K1A	1	151196880	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47457	151196880	98053741	938	24440											
ZNF687	57592	broad.mit.edu	37	chr1	151261878	151261878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctacaagtgcgccatgtgCgacacagtcttcactcacaa	12	9	7	13	2	4	0	2	0	2	0	4	1	4	0	1	0	3	0	1	0	3	2	rs146722973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151261878C>T	ENST00000368879.2	+	5	2594	c.2496C>T	c.(2494-2496)tgC>tgT	p.C832C		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	832					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GCGCCATGTGCGACACAGTCT	0.602													T	151261878	C	T	151261878	2	4	364	1	0	0	0	0	0	0	0	1	18193	776	27	1		1	ZNF687	1	151261878	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64998	151261878	97988743	939	24441											
PI4KB	5298	broad.mit.edu	37	chr1	151288718	151288718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctcactgtccacaccatcCccattgaccaactccagtgg	10	9	5	17	0	1	1	1	1	1	0	5	1	4	1	6	1	1	0	6	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151288718C>A	ENST00000368875.2	-	3	856	c.276G>T	c.(274-276)ggG>ggT	p.G92G	PI4KB_ENST00000368874.4_Silent_p.G80G|PI4KB_ENST00000529142.1_Intron|PI4KB_ENST00000271657.5_Silent_p.G92G|PI4KB_ENST00000368873.1_Silent_p.G80G|PI4KB_ENST00000368872.1_Silent_p.G80G	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	80					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CCACACCATCCCCATTGACCA	0.592													A	151288718	C	A	151288718	2	1	364	1	0	0	0	0	0	0	0	1	11951	610	22	4		4	PI4KB	1	151288718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26840	151288718	97961903	940	24442											
RFX5	5993	broad.mit.edu	37	chr1	151315446	151315446	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactttcagggcacctgaaGaaagcctgggggccagaata	12	6	12	11	0	1	3	1	1	0	2	1	3	1	3	4	3	1	1	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151315446G>T	ENST00000290524.4	-	11	1245	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	RFX5_ENST00000368870.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452671.2_Missense_Mutation_p.S356Y|RFX5_ENST00000452513.2_Missense_Mutation_p.S316Y	NM_000449.3|NM_001025603.1	NP_000440.1|NP_001020774.1	P48382	RFX5_HUMAN	regulatory factor X, 5 (influences HLA class II expression)	356						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	20	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GGCACCTGAAGAAAGCCTGGG	0.587													T	151315446	G	T	151315446	3	4	364	1	0	0	0	0	1	0	0	0	13354	942	33	4	787	4	RFX5	1	151315446	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26728	151315446	97935175	941	24443											
PSMB4	5692	broad.mit.edu	37	chr1	151372573	151372573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtttccgcaacatctctcGcattatgcgagtcaacaaca	11	11	6	13	4	2	0	1	0	1	0	6	1	3	0	1	0	4	3	1	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151372573G>A	ENST00000290541.6	+	2	311	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	86					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	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)			AACATCTCTCGCATTATGCGA	0.547													A	151372573	G	A	151372573	3	1	364	1	0	0	0	0	1	0	0	0	12764	1087	38	1	263	1	PSMB4	1	151372573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57127	151372573	97878048	942	24444											
POGZ	23126	broad.mit.edu	37	chr1	151400673	151400673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagtgaggttggctgtGtggcagtgggagtggtagaa	7	9	19	6	0	0	2	0	1	0	1	0	3	0	3	2	5	0	4	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151400673G>A	ENST00000271715.2	-	6	1099	c.785C>T	c.(784-786)aCa>aTa	p.T262I	POGZ_ENST00000392723.1_Missense_Mutation_p.T209I|POGZ_ENST00000361398.3_Missense_Mutation_p.T209I|POGZ_ENST00000531094.1_Missense_Mutation_p.T209I|POGZ_ENST00000491586.1_Missense_Mutation_p.T209I|POGZ_ENST00000409503.1_Missense_Mutation_p.T262I|POGZ_ENST00000368863.2_Missense_Mutation_p.T167I|POGZ_ENST00000540984.1_Intron	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	262					cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GGTTGGCTGTGTGGCAGTGGG	0.577													A	151400673	G	A	151400673	3	1	364	1	0	0	0	0	1	0	0	0	12263	1377	48	2	3517	2	POGZ	1	151400673	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28100	151400673	97849948	943	24445											
SNX27	81609	broad.mit.edu	37	chr1	151630870	151630870	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaacaattagatgccCgacgtcggggattggaagaa	15	6	12	8	3	0	3	0	0	0	3	1	6	0	5	1	3	3	0	1	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151630870C>T	ENST00000368843.3	+	3	823	c.703C>T	c.(703-705)Cga>Tga	p.R235*	SNX27_ENST00000368838.1_Nonsense_Mutation_p.R142*|SNX27_ENST00000458013.2_Nonsense_Mutation_p.R235*	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	235	PX.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			ATTAGATGCCCGACGTCGGGG	0.403													T	151630870	C	T	151630870	4	4	364	1	0	0	0	0	0	1	0	0	14991	644	23	1	713	1	SNX27	1	151630870	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230197	151630870	97619751	944	24446											
SNX27	81609	broad.mit.edu	37	chr1	151664940	151664940	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaaggacttgtgagggCtacaatgaaatcatctttcc	12	12	9	8	0	2	2	1	2	1	0	3	3	3	3	1	2	2	2	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151664940C>A	ENST00000368843.3	+	9	1389	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G	SNX27_ENST00000368838.1_Silent_p.G330G|SNX27_ENST00000458013.2_Silent_p.G423G	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	423					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTTGTGAGGGCTACAATGAAA	0.413													A	151664940	C	A	151664940	2	1	364	1	0	0	0	0	0	0	0	1	14991	784	28	4		4	SNX27	1	151664940	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34070	151664940	97585681	945	24447											
TDRKH	11022	broad.mit.edu	37	chr1	151752494	151752494	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggggtattctctgtcagGatctgatggattgctgcttt	6	16	12	7	0	3	1	1	1	2	0	4	3	3	3	0	4	2	3	0	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:151752494G>A	ENST00000368822.1	-	4	987	c.354C>T	c.(352-354)atC>atT	p.I118I	TDRKH_ENST00000368823.1_Silent_p.I114I|TDRKH_ENST00000458431.2_Silent_p.I118I|TDRKH_ENST00000440583.2_Intron|TDRKH_ENST00000484421.1_Intron|TDRKH_ENST00000368824.3_Silent_p.I118I|TDRKH_ENST00000368827.6_Silent_p.I118I|TDRKH_ENST00000368825.3_Intron			Q9Y2W6	TDRKH_HUMAN	tudor and KH domain containing	118							RNA binding			breast(5)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCTCTGTCAGGATCTGATGGA	0.498													A	151752494	G	A	151752494	2	1	364	1	0	0	0	0	0	0	0	1	15837	1164	41	2		2	TDRKH	1	151752494	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87554	151752494	97498127	946	24448											
TCHHL1	126637	broad.mit.edu	37	chr1	152058011	152058011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctaacagagtattctggGcctctgttgctcttcctttc	5	18	7	11	0	4	1	0	0	4	1	6	1	5	1	2	1	2	3	2	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152058011G>A	ENST00000368806.1	-	3	2211	c.2147C>T	c.(2146-2148)gCc>gTc	p.A716V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	716							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGTATTCTGGGCCTCTGTTGC	0.443													A	152058011	G	A	152058011	3	1	364	1	0	0	0	0	1	0	0	0	15801	1203	42	2	571	2	TCHHL1	1	152058011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305517	152058011	97192610	947	24449											
TCHHL1	126637	broad.mit.edu	37	chr1	152059177	152059177	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgagtgtcaaacattctacaGacatccttggaatcagttga	13	12	8	8	0	3	3	2	2	1	1	4	4	4	4	1	1	2	1	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152059177G>A	ENST00000368806.1	-	3	1045	c.981C>T	c.(979-981)gtC>gtT	p.V327V		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	327							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACATTCTACAGACATCCTTGG	0.463													A	152059177	G	A	152059177	2	1	364	1	0	0	0	0	0	0	0	1	15801	929	33	2		2	TCHHL1	1	152059177	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1166	152059177	97191444	948	24450											
TCHH	7062	broad.mit.edu	37	chr1	152080388	152080388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcggaattttctgtcgcGctcctggcggcgcagctgct	3	11	13	14	6	1	0	0	0	1	0	4	1	2	1	1	3	2	4	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080388G>A	ENST00000368804.1	-	2	5304	c.5305C>T	c.(5305-5307)Cgc>Tgc	p.R1769C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1769	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTCTGTCGCGCTCCTGGCGG	0.592													A	152080388	G	A	152080388	3	1	364	1	0	0	0	0	1	0	0	0	15800	1087	38	1	530	1	TCHH	1	152080388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21211	152080388	97170233	949	24451											
TCHH	7062	broad.mit.edu	37	chr1	152080722	152080722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgacgcagctgttgttcGcgctcctggcggcgcagctg	3	10	15	13	6	0	1	0	1	0	0	3	1	1	1	1	2	2	7	1	2	0	2	rs71585886		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152080722G>A	ENST00000368804.1	-	2	4970	c.4971C>T	c.(4969-4971)cgC>cgT	p.R1657R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1657	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTGTTGTTCGCGCTCCTGGC	0.602													A	152080722	G	A	152080722	2	1	364	1	0	0	0	0	0	0	0	1	15800	1074	38	1		1	TCHH	1	152080722	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	152080722	97169899	950	24452											
TCHH	7062	broad.mit.edu	37	chr1	152082035	152082035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatttcagatcactgcGctgatcctcatcccggtatc	7	12	7	15	2	3	2	3	1	0	1	6	2	5	2	3	1	2	2	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082035G>A	ENST00000368804.1	-	2	3657	c.3658C>T	c.(3658-3660)Cgc>Tgc	p.R1220C		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1220					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCACTGCGCTGATCCTCA	0.517													A	152082035	G	A	152082035	3	1	364	1	0	0	0	0	1	0	0	0	15800	1087	38	1	2177	1	TCHH	1	152082035	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1313	152082035	97168586	951	24453											
TCHH	7062	broad.mit.edu	37	chr1	152082671	152082671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcgccttctcttctcccGttcctctctcagcagctgct	2	14	7	18	2	4	0	1	0	3	0	8	0	5	0	3	1	3	4	3	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082671G>A	ENST00000368804.1	-	2	3021	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1008	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ctcttctcccgttcctctctc	0.577													A	152082671	G	A	152082671	3	1	364	1	0	0	0	0	1	0	0	0	15800	1144	40	1	2813	1	TCHH	1	152082671	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	636	152082671	97167950	952	24454											
TCHH	7062	broad.mit.edu	37	chr1	152082939	152082939	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcgccttctcttctcGcgctcctctctctgtagctc	1	16	7	17	3	5	0	0	0	5	0	10	0	6	0	2	1	1	3	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152082939G>A	ENST00000368804.1	-	2	2753	c.2754C>T	c.(2752-2754)cgC>cgT	p.R918R		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	918	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCTCTTCTCGCGCTCCTCTC	0.592													A	152082939	G	A	152082939	2	1	364	1	0	0	0	0	0	0	0	1	15800	1074	38	1		1	TCHH	1	152082939	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268	152082939	97167682	953	24455											
TCHH	7062	broad.mit.edu	37	chr1	152085221	152085221	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctgttcaagtcgctcttGtttctcactttgctcctctc	3	17	7	14	2	4	0	2	0	3	0	8	0	5	0	1	0	1	5	1	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152085221G>A	ENST00000368804.1	-	2	471	c.472C>T	c.(472-474)Caa>Taa	p.Q158*		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	158					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTCGCTCTTGTTTCTCACTT	0.597													A	152085221	G	A	152085221	4	1	364	1	0	0	0	0	0	1	0	0	15800	1386	48	2	5363	2	TCHH	1	152085221	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2282	152085221	97165400	954	24456											
RPTN	126638	broad.mit.edu	37	chr1	152127497	152127497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcaccatgactctgcctgGtctgggcctgtctgtggccc	3	11	11	16	0	4	1	1	1	3	0	4	1	4	1	5	3	1	0	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152127497G>A	ENST00000316073.3	-	3	2142	c.2078C>T	c.(2077-2079)aCc>aTc	p.T693I		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	693	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGCCTGGTCTGGGCCTG	0.532													A	152127497	G	A	152127497	3	1	364	1	0	0	0	0	1	0	0	0	13755	1261	44	2	280	2	RPTN	1	152127497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42276	152127497	97123124	955	24457											
RPTN	126638	broad.mit.edu	37	chr1	152128585	152128585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtctggctgactgtaGtgggaactctggccttgtct	4	15	13	9	0	4	1	0	1	4	0	4	2	4	2	1	3	1	2	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152128585G>T	ENST00000316073.3	-	3	1054	c.990C>A	c.(988-990)caC>caA	p.H330Q		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	330	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTGACTGTAGTGGGAACTCT	0.488													T	152128585	G	T	152128585	3	4	364	1	0	0	0	0	1	0	0	0	13755	1020	36	4	1368	4	RPTN	1	152128585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1088	152128585	97122036	956	24458											
RPTN	126638	broad.mit.edu	37	chr1	152129036	152129036	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagactgattgtggtgaGaatctctgtcttgtctctca	7	16	9	9	0	5	3	2	2	4	2	8	4	5	3	0	1	0	0	0	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152129036G>T	ENST00000316073.3	-	3	603	c.539C>A	c.(538-540)tCt>tAt	p.S180Y		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	180	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATTGTGGTGAGAATCTCTGTC	0.463													T	152129036	G	T	152129036	3	4	364	1	0	0	0	0	1	0	0	0	13755	942	33	4	1819	4	RPTN	1	152129036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	451	152129036	97121585	957	24459											
HRNR	388697	broad.mit.edu	37	chr1	152187633	152187633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacccatgctgaccatagcGggaagacgaacctgagctag	13	5	12	11	2	0	4	0	2	0	2	0	6	0	5	3	1	4	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152187633G>A	ENST00000368801.2	-	3	6547	c.6472C>T	c.(6472-6474)Cgc>Tgc	p.R2158C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2158					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGACCATAGCGGGAAGACGAA	0.617													A	152187633	G	A	152187633	3	1	364	1	0	0	0	0	1	0	0	0	7414	1116	39	1	2084	1	HRNR	1	152187633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58597	152187633	97062988	958	24460											
HRNR	388697	broad.mit.edu	37	chr1	152191231	152191231	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgacctagagccgtgttgTtcgtagctggaggagtgacc	7	10	14	10	2	0	3	0	2	0	1	1	5	0	5	4	2	2	4	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152191231T>C	ENST00000368801.2	-	3	2949	c.2874A>G	c.(2872-2874)gaA>gaG	p.E958E	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	958					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCGTGTTGTTCGTAGCTGG	0.552													C	152191231	T	C	152191231	2	2	364	1	0	0	0	0	0	0	0	1	7414	1722	60	3		3	HRNR	1	152191231	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3598	152191231	97059390	959	24461											
HRNR	388697	broad.mit.edu	37	chr1	152193229	152193229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggccgtggcccaaagaCtgacgggaaccagacccatg	10	5	13	13	3	0	3	0	1	0	2	1	4	0	4	4	3	1	0	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152193229C>T	ENST00000368801.2	-	3	951	c.876G>A	c.(874-876)caG>caA	p.Q292Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	292					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCAAAGACTGACGGGAAC	0.602													T	152193229	C	T	152193229	2	4	364	1	0	0	0	0	0	0	0	1	7414	564	20	2		2	HRNR	1	152193229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1998	152193229	97057392	960	24462											
FLG	2312	broad.mit.edu	37	chr1	152275432	152275432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctgcactaccatagctgCcatgtctccaaactaaacct	13	10	4	14	0	2	0	0	0	2	0	3	0	2	0	4	0	6	2	4	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152275432C>T	ENST00000368799.1	-	3	11965	c.11930G>A	c.(11929-11931)gGc>gAc	p.G3977D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3977					keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCATAGCTGCCATGTCTCCA	0.418									Ichthyosis				T	152275432	C	T	152275432	3	4	364	1	0	0	0	0	1	0	0	0	5971	739	26	2	259	2	FLG	1	152275432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82203	152275432	96975189	961	24463											
FLG	2312	broad.mit.edu	37	chr1	152279721	152279721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattgtccctggcccacctgCgagtgtccagagctgtcggc	5	9	13	14	2	0	1	0	0	0	1	3	3	2	1	4	2	2	1	4	2	0	1	rs12081090	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152279721C>T	ENST00000368799.1	-	3	7676	c.7641G>A	c.(7639-7641)tcG>tcA	p.S2547S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2547	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCCACCTGCGAGTGTCCAG	0.582									Ichthyosis				T	152279721	C	T	152279721	2	4	364	1	0	0	0	0	0	0	0	1	5971	755	27	1		1	FLG	1	152279721	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4289	152279721	96970900	962	24464											
FLG	2312	broad.mit.edu	37	chr1	152281063	152281063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtccatgggtggactcaGactgttcatgagtgctcacc	8	11	11	11	0	3	2	3	1	0	1	4	3	4	3	2	2	1	2	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152281063G>T	ENST00000368799.1	-	3	6334	c.6299C>A	c.(6298-6300)tCt>tAt	p.S2100Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2100	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGTGGACTCAGACTGTTCATG	0.567									Ichthyosis				T	152281063	G	T	152281063	3	4	364	1	0	0	0	0	1	0	0	0	5971	942	33	4	5890	4	FLG	1	152281063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	152281063	96969558	963	24465											
FLG	2312	broad.mit.edu	37	chr1	152282658	152282658	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagtgtctagagctgccGgcccgagtggaaggttcatg	7	10	16	8	2	2	2	1	1	1	1	2	4	2	3	2	3	2	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152282658G>A	ENST00000368799.1	-	3	4739	c.4704C>T	c.(4702-4704)gcC>gcT	p.A1568A	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1568	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGCTGCCGGCCCGAGTGG	0.587									Ichthyosis				A	152282658	G	A	152282658	2	1	364	1	0	0	0	0	0	0	0	1	5971	1103	39	1		1	FLG	1	152282658	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1595	152282658	96967963	964	24466											
FLG	2312	broad.mit.edu	37	chr1	152284256	152284256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctgactgctggtggcGggatccgtgtctttctcctg	2	14	14	11	2	3	1	0	1	3	0	5	2	4	2	2	3	2	2	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152284256G>A	ENST00000368799.1	-	3	3141	c.3106C>T	c.(3106-3108)Cgc>Tgc	p.R1036C	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1036	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCTGGTGGCGGGATCCGTGT	0.567									Ichthyosis				A	152284256	G	A	152284256	3	1	364	1	0	0	0	0	1	0	0	0	5971	1116	39	1	9083	1	FLG	1	152284256	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1598	152284256	96966365	965	24467											
FLG2	388698	broad.mit.edu	37	chr1	152325257	152325257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgagtgtgtcctgtatGtgtgtgtgagacccctgagt	7	13	13	8	0	0	3	0	3	0	1	1	4	1	3	4	0	0	1	4	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325257G>A	ENST00000388718.5	-	3	5077	c.5005C>T	c.(5005-5007)Cat>Tat	p.H1669Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1669							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTGTATGTGTGTGTGAG	0.502													A	152325257	G	A	152325257	3	1	364	1	0	0	0	0	1	0	0	0	5972	1377	48	2	2174	2	FLG2	1	152325257	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41001	152325257	96925364	966	24468											
FLG2	388698	broad.mit.edu	37	chr1	152325372	152325372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccatgaccagagtgggaAtgtccagtggtatctcctat	9	12	11	9	0	1	2	0	1	1	1	4	3	3	3	4	2	0	1	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152325372A>C	ENST00000388718.5	-	3	4962	c.4890T>G	c.(4888-4890)caT>caG	p.H1630Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1630							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGAGTGGGAATGTCCAGTGG	0.507													C	152325372	A	C	152325372	3	2	364	1	0	0	0	0	1	0	0	0	5972	98	4	5	2289	5	FLG2	1	152325372	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	115	152325372	96925249	967	24469											
FLG2	388698	broad.mit.edu	37	chr1	152327756	152327756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtgatctagactcatGctgtccaaagccagaggatt	11	11	10	9	0	2	4	1	2	1	2	3	5	3	5	2	1	2	1	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152327756G>A	ENST00000388718.5	-	3	2578	c.2506C>T	c.(2506-2508)Cat>Tat	p.H836Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	836	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGCTGTCCAAAG	0.512													A	152327756	G	A	152327756	3	1	364	1	0	0	0	0	1	0	0	0	5972	1319	46	2	4673	2	FLG2	1	152327756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2384	152327756	96922865	968	24470											
FLG2	388698	broad.mit.edu	37	chr1	152328811	152328811	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggactgacctgagccaGacccatgttgtccaaagcca	12	6	10	13	0	0	4	0	2	0	2	1	5	1	5	5	1	2	1	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152328811G>T	ENST00000388718.5	-	3	1523	c.1451C>A	c.(1450-1452)tCt>tAt	p.S484Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	484	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ACCTGAGCCAGACCCATGTTG	0.527													T	152328811	G	T	152328811	3	4	364	1	0	0	0	0	1	0	0	0	5972	942	33	4	5728	4	FLG2	1	152328811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1055	152328811	96921810	969	24471											
FLG2	388698	broad.mit.edu	37	chr1	152329824	152329824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcacagttccccttgaGtgcccagaactatatccatg	10	12	6	13	0	1	2	1	1	0	1	3	2	3	2	4	0	2	1	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152329824G>T	ENST00000388718.5	-	3	510	c.438C>A	c.(436-438)caC>caA	p.H146Q	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	146	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTCCCCTTGAGTGCCCAGAAC	0.463													T	152329824	G	T	152329824	3	4	364	1	0	0	0	0	1	0	0	0	5972	1020	36	4	6741	4	FLG2	1	152329824	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1013	152329824	96920797	970	24472											
KPRP	448834	broad.mit.edu	37	chr1	152733255	152733255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagagtcaccactgcaGcgatgtccacctcctgctcc	7	9	8	17	1	1	1	1	0	0	1	5	2	5	1	6	0	3	2	6	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152733255G>T	ENST00000368773.1	+	2	1249	c.1191G>T	c.(1189-1191)caG>caT	p.Q397H	KPRP_ENST00000606109.1_Missense_Mutation_p.Q397H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	397	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCACTGCAGCGATGTCCAC	0.602													T	152733255	G	T	152733255	3	4	364	1	0	0	0	0	1	0	0	0	8494	962	34	4	1193	4	KPRP	1	152733255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403431	152733255	96517366	971	24473											
IVL	3713	broad.mit.edu	37	chr1	152883903	152883903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagctggagcagcctGtgtttgccccagctccaggc	6	7	15	13	0	0	0	0	0	0	0	1	1	1	1	4	4	5	5	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:152883903G>A	ENST00000368764.3	+	2	1694	c.1630G>A	c.(1630-1632)Gtg>Atg	p.V544M	IVL_ENST00000392667.2_Missense_Mutation_p.V398M			P07476	INVO_HUMAN	involucrin	544					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ggagcagcCTGTGTTTGCCCC	0.587													A	152883903	G	A	152883903	3	1	364	1	0	0	0	0	1	0	0	0	7987	1377	48	2	1632	2	IVL	1	152883903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150648	152883903	96366718	972	24474											
PGLYRP4	57115	broad.mit.edu	37	chr1	153312884	153312884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtcgcatgacttgagcCtgtctatgtagaaagactgg	11	11	11	8	1	1	4	0	2	1	2	2	4	1	4	1	1	1	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153312884C>A	ENST00000368739.3	-	7	1143	c.785G>T	c.(784-786)aGg>aTg	p.R262M	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.R266M			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	266					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGACTTGAGCCTGTCTATGTA	0.517													A	153312884	C	A	153312884	3	1	364	1	0	0	0	0	1	0	0	0	11873	681	24	4	336	4	PGLYRP4	1	153312884	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	428981	153312884	95937737	973	24475											
S100A9	6280	broad.mit.edu	37	chr1	153330827	153330827	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaccttccaccaatactCtgtgaagctggggcacccag	11	7	8	15	0	1	1	0	1	1	0	2	1	2	1	4	2	3	2	4	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153330827C>A	ENST00000368738.3	+	2	111	c.68C>A	c.(67-69)tCt>tAt	p.S23Y		NM_002965.3	NP_002956.1	P06702	S10A9_HUMAN	S100 calcium binding protein A9	23	EF-hand 1.				cell-cell signaling	cytoplasm|cytoskeleton|nucleus|plasma membrane	calcium ion binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(2)	4	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACCAATACTCTGTGAAGCTG	0.493													A	153330827	C	A	153330827	3	1	364	1	0	0	0	0	1	0	0	0	13878	913	32	4	70	4	S100A9	1	153330827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17943	153330827	95919794	974	24476											
S100A7	6278	broad.mit.edu	37	chr1	153430402	153430403	+	Frame_Shift_Ins	INS	-	-	T																															tcttatcctcattcttgtccINStttttctcaaagacatcggc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153430402_153430403insT	ENST00000368723.3	-	3	295_296	c.185_186insA	c.(184-186)aagfs	p.K62fs	S100A7_ENST00000368722.1_Frame_Shift_Ins_p.K62fs	NM_002963.3	NP_002954.2	P31151	S10A7_HUMAN	S100 calcium binding protein A7	62	EF-hand 2.				angiogenesis|defense response to Gram-negative bacterium|innate immune response|keratinocyte differentiation|positive regulation of ERK1 and ERK2 cascade|positive regulation of granulocyte chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|response to lipopolysaccharide|response to reactive oxygen species|sequestering of metal ion	cytosol|endoplasmic reticulum|extracellular region|focal adhesion|nucleus	calcium ion binding|RAGE receptor binding|zinc ion binding			breast(1)|large_intestine(2)|lung(5)|skin(2)	10	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			CATTCTTGTCCTTTTTCTCAAA	0.416													T	153430403	-	T	153430402	7	5	364	1	0	1	1	0	0	0	0	0	13874	680	24	0	123	0	S100A7	1	153430402	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	99575	153430402	95820219	975	24477											
S100A4	6275	broad.mit.edu	37	chr1	153516392	153516392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaagcagcttcatctGtccttttctggagggagaag	9	12	12	8	0	4	1	1	0	3	1	5	4	5	3	1	3	2	2	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153516392G>A	ENST00000368716.4	-	3	296	c.149C>T	c.(148-150)aCa>aTa	p.T50I	S100A4_ENST00000368715.1_Missense_Mutation_p.T50I|S100A4_ENST00000481009.1_5'UTR|S100A4_ENST00000354332.4_Missense_Mutation_p.T50I|S100A4_ENST00000368714.1_Missense_Mutation_p.T50I	NM_002961.2	NP_002952.1	P26447	S10A4_HUMAN	S100 calcium binding protein A4	50	EF-hand 2.				epithelial to mesenchymal transition|positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus|perinuclear region of cytoplasm	calcium ion binding|RAGE receptor binding			large_intestine(2)|lung(1)|prostate(1)	4	all_lung(78;5.98e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGCTTCATCTGTCCTTTTCTG	0.532													A	153516392	G	A	153516392	3	1	364	1	0	0	0	0	1	0	0	0	13871	1377	48	2	160	2	S100A4	1	153516392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85990	153516392	95734229	976	24478											
S100A13	6284	broad.mit.edu	37	chr1	153598926	153598926	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaatggactcctctagcTctgtcagtggttctgctgcc	5	14	9	13	0	5	0	2	0	4	0	7	1	6	1	2	2	3	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153598926T>G	ENST00000368699.1	-	4	526	c.23A>C	c.(22-24)gAg>gCg	p.E8A	S100A13_ENST00000392622.1_Missense_Mutation_p.E8A|S100A13_ENST00000339556.4_Missense_Mutation_p.E8A|S100A13_ENST00000392623.1_Missense_Mutation_p.E8A|S100A13_ENST00000440685.2_Missense_Mutation_p.E8A|RP1-178F15.5_ENST00000497086.1_RNA|S100A13_ENST00000491177.1_5'UTR	NM_001024210.1	NP_001019381.1	Q99584	S10AD_HUMAN	S100 calcium binding protein A13	8					interleukin-1 alpha secretion|mast cell degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|extracellular space|nucleus|perinuclear region of cytoplasm	calcium ion binding|copper ion binding|fibroblast growth factor 1 binding|lipid binding|protein homodimerization activity|RAGE receptor binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(4)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)		Amlexanox(DB01025)	CTCCTCTAGCTCTGTCAGTGG	0.557													G	153598926	T	G	153598926	3	3	364	1	0	0	0	0	1	0	0	0	13866	1551	54	5	281	5	S100A13	1	153598926	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82534	153598926	95651695	977	24479											
ILF2	3608	broad.mit.edu	37	chr1	153637767	153637767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatcttcactgtagcatcaGaagaactgatttcaaagcca	15	10	7	9	0	4	3	3	1	1	2	4	4	4	3	1	0	3	2	1	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153637767G>A	ENST00000361891.4	-	8	631	c.506C>T	c.(505-507)tCt>tTt	p.S169F		NM_001267809.1|NM_004515.3	NP_001254738.1|NP_004506.2	Q12905	ILF2_HUMAN	interleukin enhancer binding factor 2	169	DZF.				immune response|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|ribonucleoprotein complex	ATP binding|DNA binding|double-stranded RNA binding|protein binding|transferase activity			cervix(1)|kidney(1)|lung(4)|skin(1)	7	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTAGCATCAGAAGAACTGAT	0.353													A	153637767	G	A	153637767	3	1	364	1	0	0	0	0	1	0	0	0	7769	942	33	2	694	2	ILF2	1	153637767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38841	153637767	95612854	978	24480											
INTS3	65123	broad.mit.edu	37	chr1	153719517	153719517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacttatggagaagtacCtgaagctgcaggatacctgc	13	9	11	8	0	0	3	0	1	0	2	0	5	0	4	2	2	6	3	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153719517C>A	ENST00000318967.2	+	4	971	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	RP11-216N14.8_ENST00000453778.1_RNA|INTS3_ENST00000435409.2_Missense_Mutation_p.L135M|INTS3_ENST00000456435.1_5'UTR	NM_023015.3	NP_075391.3	Q68E01	INT3_HUMAN	integrator complex subunit 3	135					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGAGAAGTACCTGAAGCTGCA	0.458													A	153719517	C	A	153719517	3	1	364	1	0	0	0	0	1	0	0	0	7837	680	24	4	417	4	INTS3	1	153719517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81750	153719517	95531104	979	24481											
INTS3	65123	broad.mit.edu	37	chr1	153730127	153730127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagatagtcagtctctgcGctgtgacctcattcgctaca	8	12	8	13	2	3	2	2	1	1	1	6	2	4	2	2	0	2	2	2	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153730127G>A	ENST00000456435.1	+	10	1605	c.419G>A	c.(418-420)cGc>cAc	p.R140H	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R346H|INTS3_ENST00000318967.2_Missense_Mutation_p.R346H|INTS3_ENST00000512605.1_Missense_Mutation_p.R140H			Q68E01	INT3_HUMAN	integrator complex subunit 3	347					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding	p.R346H(1)		breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGTCTCTGCGCTGTGACCTC	0.517													A	153730127	G	A	153730127	3	1	364	1	0	0	0	0	1	0	0	0	7837	1087	38	1	1075	1	INTS3	1	153730127	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10610	153730127	95520494	980	24482											
INTS3	65123	broad.mit.edu	37	chr1	153733342	153733342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccattggagggccacgtgCggcagggtgtcttttcctcc	5	10	13	13	2	1	0	0	0	1	0	3	1	3	1	4	4	1	1	4	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153733342C>T	ENST00000456435.1	+	13	1925	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.R453W|INTS3_ENST00000318967.2_Missense_Mutation_p.R453W|INTS3_ENST00000512605.1_Missense_Mutation_p.R247W			Q68E01	INT3_HUMAN	integrator complex subunit 3	454					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGCCACGTGCGGCAGGGTGT	0.512													T	153733342	C	T	153733342	3	4	364	1	0	0	0	0	1	0	0	0	7837	759	27	1	1407	1	INTS3	1	153733342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3215	153733342	95517279	981	24483											
GATAD2B	57459	broad.mit.edu	37	chr1	153800488	153800488	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagctgaactgagccataCctccgtctagcactcatatc	10	9	8	14	1	2	2	1	2	1	0	4	2	3	2	3	1	5	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153800488C>T	ENST00000368655.4	-	2	579		c.e2+1			NM_020699.2	NP_065750.1	Q8WXI9	P66B_HUMAN	GATA zinc finger domain containing 2B							nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	38	all_lung(78;1.34e-32)|Lung NSC(65;1.04e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CTGAGCCATACCTCCGTCTAG	0.478													T	153800488	C	T	153800488	5	4	364	1	0	0	0	0	0	0	1	0	6315	521	18	2	1485	2	GATAD2B	1	153800488	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67146	153800488	95450133	982	24484											
DENND4B	9909	broad.mit.edu	37	chr1	153909042	153909042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggagcaccaccttgccGctctccatctggcgcagcac	7	7	10	17	2	3	0	1	0	2	0	4	1	3	1	4	2	3	4	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153909042G>A	ENST00000361217.4	-	16	2833	c.2415C>T	c.(2413-2415)agC>agT	p.S805S		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	805										NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCACCTTGCCGCTCTCCATCT	0.607													A	153909042	G	A	153909042	2	1	364	1	0	0	0	0	0	0	0	1	4473	1078	38	1		1	DENND4B	1	153909042	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108554	153909042	95341579	983	24485											
CRTC2	200186	broad.mit.edu	37	chr1	153920936	153920936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccacccccattcacctGtgaggatgatgttaggccct	8	9	8	16	0	1	2	1	2	0	0	1	3	1	3	6	2	0	1	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:153920936G>A	ENST00000368633.1	-	13	1986	c.1859C>T	c.(1858-1860)aCa>aTa	p.T620I	CRTC2_ENST00000368630.3_Missense_Mutation_p.T300I	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	620					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCATTCACCTGTGAGGATGAT	0.542													A	153920936	G	A	153920936	3	1	364	1	0	0	0	0	1	0	0	0	3931	1377	48	2	230	2	CRTC2	1	153920936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11894	153920936	95329685	984	24486											
NUP210L	91181	broad.mit.edu	37	chr1	154029414	154029414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagagtattcgtcctgttgCtccattggtctgcaaaaacc	9	13	8	11	1	2	1	1	0	1	1	5	1	4	1	3	1	3	4	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154029414C>A	ENST00000368559.3	-	23	3188	c.3117G>T	c.(3115-3117)gaG>gaT	p.E1039D	NUP210L_ENST00000271854.3_Missense_Mutation_p.E1039D	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1039						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CGTCCTGTTGCTCCATTGGTC	0.433													A	154029414	C	A	154029414	3	1	364	1	0	0	0	0	1	0	0	0	10837	796	28	4	2621	4	NUP210L	1	154029414	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108478	154029414	95221207	985	24487											
NUP210L	91181	broad.mit.edu	37	chr1	154125288	154125288	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagtacagctttttgggaAcacaaggtgccattttcata	12	13	9	7	0	1	1	1	1	0	0	1	2	1	2	1	2	4	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154125288A>G	ENST00000368559.3	-	2	335	c.264T>C	c.(262-264)tgT>tgC	p.C88C	NUP210L_ENST00000271854.3_Silent_p.C88C	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	88						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTTTTTGGGAACACAAGGTGC	0.413													G	154125288	A	G	154125288	2	3	364	1	0	0	0	0	0	0	0	1	10837	41	2	3		3	NUP210L	1	154125288	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	95874	154125288	95125333	986	24488											
NUP210L	91181	broad.mit.edu	37	chr1	154127368	154127368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcacccggcctggCtctcggccgaagggtagcaa	10	4	15	12	3	1	0	0	0	1	0	2	2	1	1	3	6	1	4	3	6	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154127368C>T	ENST00000368559.3	-	1	224	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NUP210L_ENST00000271854.3_Silent_p.E51E	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	51						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CCCGGCCTGGCTCTCGGCCGA	0.587													T	154127368	C	T	154127368	2	4	364	1	0	0	0	0	0	0	0	1	10837	796	28	2		2	NUP210L	1	154127368	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2080	154127368	95123253	987	24489											
TPM3	7170	broad.mit.edu	37	chr1	154163714	154163714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgggcatccttcaaaGcttcagaatacttgtccagc	9	12	7	13	0	3	1	2	0	1	1	6	1	5	1	3	1	3	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154163714G>T	ENST00000368530.2	-	2	383	c.191C>A	c.(190-192)gCt>gAt	p.A64D	TPM3_ENST00000271850.7_Missense_Mutation_p.A64D	NM_152263.2	NP_689476.2	P06753	TPM3_HUMAN	tropomyosin 3	63					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					ATCCTTCAAAGCTTCAGAATA	0.488			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								T	154163714	G	T	154163714	3	4	364	1	0	0	0	0	1	0	0	0	16508	971	34	4	1089	4	TPM3	1	154163714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36346	154163714	95086907	988	24490											
C1orf43	25912	broad.mit.edu	37	chr1	154184972	154184972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtttcatagccatccaaaaGggtatcaatgagtgctttgc	11	13	9	8	0	2	1	2	1	0	0	3	1	3	1	2	1	3	3	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154184972G>T	ENST00000368521.5	-	5	667	c.469C>A	c.(469-471)Ctt>Att	p.L157I	C1orf43_ENST00000368518.1_Missense_Mutation_p.L157I|C1orf43_ENST00000362076.4_Missense_Mutation_p.L105I|C1orf43_ENST00000368519.1_Missense_Mutation_p.L139I|C1orf43_ENST00000350592.3_Missense_Mutation_p.L123I|C1orf43_ENST00000368516.1_Missense_Mutation_p.L123I	NM_001098616.1	NP_001092086.1	Q9BWL3	CA043_HUMAN	chromosome 1 open reading frame 43	157						integral to membrane	coenzyme binding|oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	10	all_lung(78;1.98e-30)|Lung NSC(65;2.87e-28)|Hepatocellular(266;0.0877)					CCATCCAAAAGGGTATCAATG	0.498													T	154184972	G	T	154184972	3	4	364	1	0	0	0	0	1	0	0	0	2061	1000	35	4	304	4	C1orf43	1	154184972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21258	154184972	95065649	989	24491											
HAX1	10456	broad.mit.edu	37	chr1	154245846	154245846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttggagggatgactcgaGatgaagatgatgatgaggaa	13	11	15	2	1	0	7	0	5	0	2	1	11	0	10	0	3	0	0	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154245846G>T	ENST00000328703.7	+	2	301	c.88G>T	c.(88-90)Gat>Tat	p.D30Y	HAX1_ENST00000483970.2_Missense_Mutation_p.D30Y|HAX1_ENST00000532105.1_Intron|HAX1_ENST00000457918.2_Intron	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	30	Asp/Glu-rich (highly acidic).|Required for localization in mitochondria (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GATGACTCGAGATGAAGATGA	0.493									Kostmann syndrome				T	154245846	G	T	154245846	3	4	364	1	0	0	0	0	1	0	0	0	7030	942	33	4	94	4	HAX1	1	154245846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60874	154245846	95004775	990	24492											
HAX1	10456	broad.mit.edu	37	chr1	154247708	154247708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcctatttcaagagcatctCtgtgaccaagatcactaaac	14	11	5	11	0	3	3	2	1	1	2	5	3	4	3	2	0	2	1	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154247708C>T	ENST00000328703.7	+	5	848	c.635C>T	c.(634-636)tCt>tTt	p.S212F	HAX1_ENST00000483970.2_Missense_Mutation_p.S220F|HAX1_ENST00000532105.1_Missense_Mutation_p.S84F|HAX1_ENST00000457918.2_Missense_Mutation_p.S164F	NM_006118.3	NP_006109.2	O00165	HAX1_HUMAN	HCLS1 associated protein X-1	212	Involved in ATP2A2 binding.|Involved in GNA13 binding.|Involved in HCLS1 binding.|Involved in PKD2 binding.|Involved in PLN binding.|Required for localization in sarcoplasmic reticulum (By similarity).					actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGAGCATCTCTGTGACCAAG	0.488									Kostmann syndrome				T	154247708	C	T	154247708	3	4	364	1	0	0	0	0	1	0	0	0	7030	913	32	2	653	2	HAX1	1	154247708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1862	154247708	95002913	991	24493											
ATP8B2	57198	broad.mit.edu	37	chr1	154303299	154303299	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctactgccatagagtaactgCatcaagacctccaagtacaa	15	8	6	12	0	1	2	1	0	0	2	2	2	2	2	3	0	5	3	3	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154303299C>T	ENST00000368489.3	+	4	198	c.198C>T	c.(196-198)tgC>tgT	p.C66C	ATP8B2_ENST00000426445.1_3'UTR|ATP8B2_ENST00000341822.2_Silent_p.C52C|ATP8B2_ENST00000368487.3_Silent_p.C33C	NM_020452.3	NP_065185.1	P98198	AT8B2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 2	52					ATP biosynthetic process	plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity		IL6R/ATP8B2(2)	breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			AGAGTAACTGCATCAAGACCT	0.488													T	154303299	C	T	154303299	2	4	364	1	0	0	0	0	0	0	0	1	1200	718	25	2		2	ATP8B2	1	154303299	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55591	154303299	94947322	992	24494											
SHE	126669	broad.mit.edu	37	chr1	154459139	154459139	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccctgaaggaaggtcGctcagctccttcaaactgga	9	9	9	14	1	2	1	2	1	0	0	6	3	5	3	3	3	2	2	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154459139G>A	ENST00000304760.2	-	4	1131	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*		NM_001010846.2	NP_001010846.1	Q5VZ18	SHE_HUMAN	Src homology 2 domain containing E	349										breast(4)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)	14	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			AAGGAAGGTCGCTCAGCTCCT	0.547													A	154459139	G	A	154459139	4	1	364	1	0	0	0	0	0	1	0	0	14370	1095	38	1	454	1	SHE	1	154459139	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155840	154459139	94791482	993	24495											
TDRD10	126668	broad.mit.edu	37	chr1	154493951	154493951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagcagcctcgggcccCgctggtatgtcttctggcct	4	10	12	15	2	2	0	0	0	2	0	4	1	3	0	5	3	2	3	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154493951C>T	ENST00000368482.4	+	6	1203	c.365C>T	c.(364-366)cCg>cTg	p.P122L	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368480.3_Missense_Mutation_p.P122L	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	122							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCGGGCCCCGCTGGTATGT	0.527													T	154493951	C	T	154493951	3	4	364	1	0	0	0	0	1	0	0	0	15831	652	23	1	383	1	TDRD10	1	154493951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34812	154493951	94756670	994	24496											
UBE2Q1	55585	broad.mit.edu	37	chr1	154524631	154524631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttgaggatctggagatCgttgtgcaaagcgctgtcct	7	13	12	9	2	2	2	0	1	2	1	4	4	3	3	1	2	2	3	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154524631C>T	ENST00000292211.4	-	8	983	c.904G>A	c.(904-906)Gat>Aat	p.D302N		NM_017582.6	NP_060052.3	Q7Z7E8	UB2Q1_HUMAN	ubiquitin-conjugating enzyme E2Q family member 1	302							ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	16	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCTGGAGATCGTTGTGCAAA	0.493													T	154524631	C	T	154524631	3	4	364	1	0	0	0	0	1	0	0	0	16971	884	31	1	388	1	UBE2Q1	1	154524631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30680	154524631	94725990	995	24497											
ADAR	103	broad.mit.edu	37	chr1	154562663	154562663	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtagacgtcttaactgtCtttggctgtgcttctgggga	8	14	12	7	1	3	1	0	0	3	1	3	2	3	2	0	3	2	3	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154562663C>T	ENST00000368474.4	-	7	2692	c.2493G>A	c.(2491-2493)aaG>aaA	p.K831K	ADAR_ENST00000368471.3_Silent_p.K536K|ADAR_ENST00000292205.5_Silent_p.K874K	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	831					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTTAACTGTCTTTGGCTGTG	0.537													T	154562663	C	T	154562663	2	4	364	1	0	0	0	0	0	0	0	1	281	912	32	2		2	ADAR	1	154562663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38032	154562663	94687958	996	24498											
ADAR	103	broad.mit.edu	37	chr1	154574233	154574233	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccttgatctcggccatGtctaaaaactcaagaggatc	11	12	7	11	1	4	2	1	1	3	1	7	3	4	3	2	2	1	0	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154574233G>A	ENST00000368474.4	-	2	1084	c.885C>T	c.(883-885)gaC>gaT	p.D295D	ADAR_ENST00000368471.3_5'UTR|ADAR_ENST00000292205.5_Silent_p.D338D	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	295					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		TCTCGGCCATGTCTAAAAACT	0.478													A	154574233	G	A	154574233	2	1	364	1	0	0	0	0	0	0	0	1	281	1368	48	2		2	ADAR	1	154574233	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11570	154574233	94676388	997	24499											
PMVK	10654	broad.mit.edu	37	chr1	154898882	154898882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctccaacgctacaacGcggaccgtctgcgtcacggc	7	7	10	17	6	3	0	1	0	2	0	4	1	4	1	2	2	5	2	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154898882G>A	ENST00000368467.3	-	4	695	c.390C>T	c.(388-390)cgC>cgT	p.R130R		NM_006556.3	NP_006547.1	Q15126	PMVK_HUMAN	phosphomevalonate kinase	130					cholesterol biosynthetic process|protein phosphorylation	cytosol|peroxisome	ATP binding|phosphomevalonate kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.142)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACGCTACAACGCGGACCGTCT	0.627													A	154898882	G	A	154898882	2	1	364	1	0	0	0	0	0	0	0	1	12221	1074	38	1		1	PMVK	1	154898882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324649	154898882	94351739	998	24500											
PYGO2	90780	broad.mit.edu	37	chr1	154933454	154933454	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccaaccaccattcaccTgagtatttgacttccttcgc	10	11	4	16	1	1	2	1	2	0	0	3	2	2	2	6	0	1	1	6	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154933454T>C	ENST00000368457.2	-	2	323	c.152A>G	c.(151-153)cAg>cGg	p.Q51R	PYGO2_ENST00000483463.1_5'UTR|PYGO2_ENST00000368456.1_Splice_Site_p.Q14R	NM_138300.3	NP_612157.1	Q9BRQ0	PYGO2_HUMAN	pygopus family PHD finger 2	51	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)|skin(2)|urinary_tract(1)	10	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACCATTCACCTGAGTATTTGA	0.502													C	154933454	T	C	154933454	5	2	364	1	0	0	0	0	0	0	1	0	12952	1594	55	3	1076	3	PYGO2	1	154933454	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34572	154933454	94317167	999	24501											
FLAD1	80308	broad.mit.edu	37	chr1	154962879	154962879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggtgaactgcaggcaCggcacccccagctggaggct	7	5	14	15	1	0	1	0	1	0	0	0	2	0	2	3	5	3	5	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154962879C>T	ENST00000292180.3	+	5	1751	c.1429C>T	c.(1429-1431)Cgg>Tgg	p.R477W	FLAD1_ENST00000315144.10_Missense_Mutation_p.R380W|FLAD1_ENST00000368428.1_Missense_Mutation_p.R18W|FLAD1_ENST00000368432.1_Missense_Mutation_p.R380W|FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368433.1_3'UTR|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	477	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACTGCAGGCACGGCACCCCCA	0.627													T	154962879	C	T	154962879	3	4	364	1	0	0	0	0	1	0	0	0	5969	527	19	1	1587	1	FLAD1	1	154962879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29425	154962879	94287742	1000	24502											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988695	154988695	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcacccctgcctgtgccaGgaacgacaagctgaagatcc	10	6	9	16	1	1	2	1	1	0	1	2	4	2	3	6	1	4	1	6	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154988695G>T	ENST00000368426.3	+	4	1291		c.e4-1		ZBTB7B_ENST00000535420.1_Splice_Site|ZBTB7B_ENST00000292176.2_Splice_Site|ZBTB7B_ENST00000417934.2_Splice_Site	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B						cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GCCTGTGCCAGGAACGACAAG	0.637													T	154988695	G	T	154988695	5	4	364	1	0	0	0	0	0	0	1	0	17655	1014	35	4	1160	4	ZBTB7B	1	154988695	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25816	154988695	94261926	1001	24503											
DCST2	127579	broad.mit.edu	37	chr1	154997063	154997063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagaagtacattgtacaGgtaggagatcctctcctggt	10	11	11	9	0	2	2	1	0	1	2	4	3	3	2	2	3	2	4	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:154997063G>T	ENST00000368424.3	-	11	1685	c.1627C>A	c.(1627-1629)Ctg>Atg	p.L543M	DCST2_ENST00000295536.5_Missense_Mutation_p.L543M	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	543						integral to membrane		p.L543M(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			ACATTGTACAGGTAGGAGATC	0.592													T	154997063	G	T	154997063	3	4	364	1	0	0	0	0	1	0	0	0	4337	991	35	4	714	4	DCST2	1	154997063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8368	154997063	94253558	1002	24504											
DCST2	127579	broad.mit.edu	37	chr1	155003095	155003095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaactcaaactcctgacGcacccggttgagcaactgaa	12	8	9	12	2	1	4	1	4	0	0	2	4	2	4	2	1	4	4	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155003095G>A	ENST00000368424.3	-	6	890	c.832C>T	c.(832-834)Cgt>Tgt	p.R278C	DCST2_ENST00000295536.5_Missense_Mutation_p.R278C	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	278						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AACTCCTGACGCACCCGGTTG	0.617													A	155003095	G	A	155003095	3	1	364	1	0	0	0	0	1	0	0	0	4337	1087	38	1	1529	1	DCST2	1	155003095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6032	155003095	94247526	1003	24505											
DCST2	127579	broad.mit.edu	37	chr1	155005152	155005152	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgcttacctatgtgttTcacaccatccatgattgacc	10	14	6	11	0	1	2	1	2	0	0	2	2	2	2	4	0	2	2	4	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155005152T>A	ENST00000368424.3	-	3	590	c.532A>T	c.(532-534)Aaa>Taa	p.K178*	DCST2_ENST00000295536.5_Nonsense_Mutation_p.K178*	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	178						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTATGTGTTTCACACCATCC	0.532													A	155005152	T	A	155005152	4	1	364	1	0	0	0	0	0	1	0	0	4337	1792	62	5	1841	5	DCST2	1	155005152	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2057	155005152	94245469	1004	24506											
ADAM15	8751	broad.mit.edu	37	chr1	155029698	155029698	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcagcaactgcagcCgacgggccctggagaaagcc	11	5	12	13	2	1	2	1	1	0	1	1	4	1	2	3	2	6	2	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155029698C>T	ENST00000356955.2	+	12	1284	c.1183C>T	c.(1183-1185)Cga>Tga	p.R395*	ADAM15_ENST00000271836.6_Nonsense_Mutation_p.R395*|ADAM15_ENST00000360674.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368410.2_Nonsense_Mutation_p.R101*|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000447332.3_Nonsense_Mutation_p.R379*|ADAM15_ENST00000449910.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000359280.4_Nonsense_Mutation_p.R395*|ADAM15_ENST00000531455.1_Nonsense_Mutation_p.R405*|ADAM15_ENST00000355956.2_Nonsense_Mutation_p.R395*|ADAM15_ENST00000368413.1_Nonsense_Mutation_p.R101*|ADAM15_ENST00000368412.3_Nonsense_Mutation_p.R395*	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	395	Peptidase M12B.				angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CAACTGCAGCCGACGGGCCCT	0.632													T	155029698	C	T	155029698	4	4	364	1	0	0	0	0	0	1	0	0	237	644	23	1	1229	1	ADAM15	1	155029698	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24546	155029698	94220923	1005	24507											
EFNA4	1945	broad.mit.edu	37	chr1	155039407	155039407	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccctgccctttggccaTgttcaattctcagagaagat	8	13	8	12	0	2	2	2	0	1	2	4	3	3	2	3	1	2	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155039407T>C	ENST00000368409.3	+	2	408	c.315T>C	c.(313-315)caT>caC	p.H105H	EFNA4_ENST00000359751.4_Silent_p.H105H|EFNA4_ENST00000427683.2_Silent_p.H105H|EFNA3_ENST00000556931.1_Intron|EFNA3_ENST00000505139.1_Intron	NM_005227.2	NP_005218.1			ephrin-A4											breast(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CCTTTGGCCATGTTCAATTCT	0.562													C	155039407	T	C	155039407	2	2	364	1	0	0	0	0	0	0	0	1	4992	1461	51	3		3	EFNA4	1	155039407	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9709	155039407	94211214	1006	24508											
EFNA3	1944	broad.mit.edu	37	chr1	155058919	155058919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagagaaccctcaggtgcCcaagcttgagaagagcatca	13	5	13	10	0	2	3	2	1	0	3	2	6	2	4	2	2	4	2	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155058919C>T	ENST00000368408.3	+	5	687	c.617C>T	c.(616-618)cCc>cTc	p.P206L	EFNA3_ENST00000418360.2_Missense_Mutation_p.P180L|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000556931.1_Missense_Mutation_p.P201L|EFNA3_ENST00000505139.1_Missense_Mutation_p.P201L	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	206					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCAGGTGCCCAAGCTTGAG	0.627											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	155058919	C	T	155058919	3	4	364	1	0	0	0	0	1	0	0	0	4991	623	22	2	635	2	EFNA3	1	155058919	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19512	155058919	94191702	1007	24509											
EFNA1	1942	broad.mit.edu	37	chr1	155103872	155103872	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgactacgtggacatcatCtgtccgcactatgaagatca	13	10	8	10	2	3	3	2	2	1	1	4	4	4	4	1	1	1	1	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155103872C>T	ENST00000368407.3	+	2	668	c.150C>T	c.(148-150)atC>atT	p.I50I	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Silent_p.I50I	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	50					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGACATCATCTGTCCGCACT	0.537													T	155103872	C	T	155103872	2	4	364	1	0	0	0	0	0	0	0	1	4989	903	32	2		2	EFNA1	1	155103872	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44953	155103872	94146749	1008	24510											
EFNA1	1942	broad.mit.edu	37	chr1	155105979	155105979	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgtgggcttatcttgcagCcaaacccatccaccagcatg	9	9	8	15	0	1	0	0	0	1	0	2	0	2	0	5	1	4	3	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155105979C>T	ENST00000368407.3	+	3	907	c.389C>T	c.(388-390)tCc>tTc	p.S130F	EFNA1_ENST00000469878.1_3'UTR|EFNA1_ENST00000368406.2_Intron	NM_004428.2	NP_004419.2	P20827	EFNA1_HUMAN	ephrin-A1	130					angiogenesis|aortic valve morphogenesis|cell migration|cell-cell signaling|endocardial cushion to mesenchymal transition involved in heart valve formation|ephrin receptor signaling pathway|mitral valve morphogenesis|negative regulation of epithelial to mesenchymal transition|negative regulation of transcription from RNA polymerase II promoter|positive regulation of peptidyl-tyrosine phosphorylation|regulation of cell adhesion mediated by integrin|substrate adhesion-dependent cell spreading	extracellular region|integral to plasma membrane	ephrin receptor binding			breast(1)|endometrium(1)|kidney(1)|lung(1)|skin(1)	5	all_epithelial(22;4.71e-30)|all_lung(78;3.15e-27)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;2.28e-10)|all cancers(21;6.16e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000395)|LUSC - Lung squamous cell carcinoma(543;0.193)			TATCTTGCAGCCAAACCCATC	0.507													T	155105979	C	T	155105979	5	4	364	1	0	0	0	0	0	0	1	0	4989	753	26	2	399	2	EFNA1	1	155105979	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2107	155105979	94144642	1009	24511											
TRIM46	80128	broad.mit.edu	37	chr1	155152225	155152225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctataccgttgagttccggcGcacggatgtgcctgctcagc	6	10	12	13	4	1	1	1	1	0	0	2	2	2	2	3	2	4	4	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155152225G>A	ENST00000392451.2	+	9	1524	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	TRIM46_ENST00000543729.1_Missense_Mutation_p.A488T|TRIM46_ENST00000468878.1_3'UTR|TRIM46_ENST00000334634.4_Missense_Mutation_p.R468H|TRIM46_ENST00000545012.1_Missense_Mutation_p.R342H|TRIM46_ENST00000368382.1_Missense_Mutation_p.R445H|TRIM46_ENST00000368385.4_Missense_Mutation_p.R468H|RP11-201K10.3_ENST00000473363.2_Intron|TRIM46_ENST00000368383.3_Missense_Mutation_p.R468H			Q7Z4K8	TRI46_HUMAN	tripartite motif containing 46	169	Fibronectin type-III.					intracellular	zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	29	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;6.62e-10)|all cancers(21;2.68e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGTTCCGGCGCACGGATGTG	0.652													A	155152225	G	A	155152225	3	1	364	1	0	0	0	0	1	0	0	0	16622	1087	38	1	1433	1	TRIM46	1	155152225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46246	155152225	94098396	1010	24512											
MUC1	4582	broad.mit.edu	37	chr1	155161934	155161934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggaggagcctgaacCggggctgtggctggagagta	8	7	20	6	1	0	2	0	1	0	1	0	5	0	4	2	7	2	3	2	7	2	1	rs149173724	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155161934C>T	ENST00000368395.1	-	2	270	c.199G>A	c.(199-201)Ggt>Agt	p.G67S	MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000342482.4_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	849						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAGCCTGAACCGGGGCTGTGG	0.587			T	IGH@	B-NHL								T	155161934	C	T	155161934	3	4	364	1	0	0	0	0	1	0	0	0	10046	667	23	1		1	MUC1	1	155161934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9709	155161934	94088687	1011	24513											
THBS3	7059	broad.mit.edu	37	chr1	155169847	155169847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaccccgtcctcatccCtgtctgtctgtagtgggttg	3	13	9	16	1	3	0	1	0	2	0	6	0	6	0	5	1	0	2	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155169847C>A	ENST00000368378.3	-	15	1786	c.1766G>T	c.(1765-1767)aGg>aTg	p.R589M	RP11-263K19.4_ENST00000447623.1_RNA|RP11-263K19.4_ENST00000436772.1_RNA|RP11-263K19.4_ENST00000454348.1_RNA|THBS3_ENST00000541990.1_Missense_Mutation_p.R118M|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R469M|THBS3_ENST00000541576.1_De_novo_Start_InFrame	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	589					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCCTCATCCCTGTCTGTCTG	0.532													A	155169847	C	A	155169847	3	1	364	1	0	0	0	0	1	0	0	0	15955	681	24	4	1140	4	THBS3	1	155169847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7913	155169847	94080774	1012	24514											
THBS3	7059	broad.mit.edu	37	chr1	155174654	155174654	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtgttacctgcactgTggatggactcgtccccttgg	4	14	11	12	1	1	0	0	0	1	0	4	2	2	2	3	3	2	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155174654T>G	ENST00000368378.3	-	4	658	c.638A>C	c.(637-639)cAc>cCc	p.H213P	THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA|THBS3_ENST00000541990.1_Intron|RP11-263K19.4_ENST00000453136.1_RNA|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000457183.2_Intron	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	213					cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			ACCTGCACTGTGGATGGACTC	0.532													G	155174654	T	G	155174654	3	3	364	1	0	0	0	0	1	0	0	0	15955	1696	59	5	2312	5	THBS3	1	155174654	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4807	155174654	94075967	1013	24515											
MTX1	4580	broad.mit.edu	37	chr1	155178807	155178807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggcgcgccgggccgacagCgctgtcccgctacgtgggcc	4	4	17	16	7	0	0	0	0	0	0	1	2	1	0	4	3	2	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155178807C>T	ENST00000368376.3	+	1	318	c.212C>T	c.(211-213)gCg>gTg	p.A71V	THBS3_ENST00000486260.1_5'UTR|MTX1_ENST00000316721.4_Missense_Mutation_p.A71V	NM_002455.3	NP_002446.2	Q13505	MTX1_HUMAN	metaxin 1	71					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	7	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGGCCGACAGCGCTGTCCCGC	0.751													T	155178807	C	T	155178807	3	4	364	1	0	0	0	0	1	0	0	0	10043	768	27	1	214	1	MTX1	1	155178807	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4153	155178807	94071814	1014	24516											
FAM189B	10712	broad.mit.edu	37	chr1	155217722	155217722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggaggctctctcggccagGccggccccacaggctccggg	4	5	16	16	3	1	0	0	0	1	0	4	1	2	1	5	7	0	2	5	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155217722G>T	ENST00000361361.2	-	12	2367	c.1858C>A	c.(1858-1860)Cct>Act	p.P620T	FAM189B_ENST00000368368.3_Missense_Mutation_p.P602T|FAM189B_ENST00000350210.2_Missense_Mutation_p.P524T	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	620						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTCGGCCAGGCCGGCCCCAC	0.617													T	155217722	G	T	155217722	3	4	364	1	0	0	0	0	1	0	0	0	5564	1203	42	4	152	4	FAM189B	1	155217722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38915	155217722	94032899	1015	24517											
FAM189B	10712	broad.mit.edu	37	chr1	155218211	155218211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctgtatctgcagaggAaacagaagcagcttcttcct	11	10	9	11	0	2	3	0	1	2	2	3	4	3	4	2	1	4	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155218211A>G	ENST00000361361.2	-	10	2073	c.1564T>C	c.(1564-1566)Tcc>Ccc	p.S522P	FAM189B_ENST00000368368.3_Missense_Mutation_p.S504P|FAM189B_ENST00000350210.2_Missense_Mutation_p.S426P	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	522						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						TCTGCAGAGGAAACAGAAGCA	0.532													G	155218211	A	G	155218211	3	3	364	1	0	0	0	0	1	0	0	0	5564	246	9	3	454	3	FAM189B	1	155218211	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	489	155218211	94032410	1016	24518											
FAM189B	10712	broad.mit.edu	37	chr1	155220472	155220472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtagccggcacggctgcGctggatggagcgaaagagaa	11	4	17	9	4	0	1	0	0	0	1	0	5	0	3	1	4	3	5	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155220472G>A	ENST00000361361.2	-	9	1614	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	FAM189B_ENST00000368368.3_Missense_Mutation_p.R351C|FAM189B_ENST00000350210.2_Missense_Mutation_p.R273C	NM_006589.2	NP_006580.2	P81408	F189B_HUMAN	family with sequence similarity 189, member B	369						integral to membrane	WW domain binding			breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23						GCACGGCTGCGCTGGATGGAG	0.706											OREG0013858	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	155220472	G	A	155220472	3	1	364	1	0	0	0	0	1	0	0	0	5564	1087	38	1	917	1	FAM189B	1	155220472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2261	155220472	94030149	1017	24519											
CLK2	1196	broad.mit.edu	37	chr1	155233072	155233072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcagcccgaaggcgggcGaagaaaggatgctgaagggc	11	3	18	9	3	1	2	1	1	0	1	1	5	1	3	1	5	2	2	1	5	4	0	rs146354358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155233072G>A	ENST00000368361.4	-	13	1752	c.1437C>T	c.(1435-1437)ttC>ttT	p.F479F	CLK2_ENST00000361168.5_Silent_p.F478F|CLK2_ENST00000355560.4_Silent_p.F477F|CLK2_ENST00000497188.1_5'UTR|CLK2_ENST00000536801.1_Silent_p.F479F			P49760	CLK2_HUMAN	CDC-like kinase 2	479	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGGCGGGCGAAGAAAGGAT	0.562								Other conserved DNA damage response genes					A	155233072	G	A	155233072	2	1	364	1	0	0	0	0	0	0	0	1	3568	1049	37	1		1	CLK2	1	155233072	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12600	155233072	94017549	1018	24520											
HCN3	57657	broad.mit.edu	37	chr1	155254415	155254415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctatgggcagcaggcacCtgtaggcatgcccgacgtct	7	8	14	12	2	1	0	0	0	1	0	1	1	1	0	2	4	2	6	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155254415C>A	ENST00000368358.3	+	4	964	c.956C>A	c.(955-957)cCt>cAt	p.P319H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	319						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CAGCAGGCACCTGTAGGCATG	0.597													A	155254415	C	A	155254415	3	1	364	1	0	0	0	0	1	0	0	0	7053	681	24	4	970	4	HCN3	1	155254415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21343	155254415	93996206	1019	24521											
HCN3	57657	broad.mit.edu	37	chr1	155258082	155258082	+	Missense_Mutation	SNP	C	C	A																															actctcagcctcccaaccctCtctgcctcagcgggcaacag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258082C>A	ENST00000368358.3	+	8	2161	c.2153C>A	c.(2152-2154)tCt>tAt	p.S718Y	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TCCCAACCCTCTCTGCCTCAG	0.692													A	155258082	C	A	155258082	3	1	364	1	0	0	0	0	1	0	0	0	7053	913	32	4	2183	4	HCN3	1	155258082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3667	155258082	93992539	1020	24522	42	2									
HCN3	57657	broad.mit.edu	37	chr1	155258092	155258092	+	Missense_Mutation	SNP	G	G	T																															tcccaaccctctctgcctcaGcgggcaacaggcgatggctc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155258092G>T	ENST00000368358.3	+	8	2171	c.2163G>T	c.(2161-2163)caG>caT	p.Q721H	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	721	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTCTGCCTCAGCGGGCAACAG	0.692													T	155258092	G	T	155258092	3	4	364	1	0	0	0	0	1	0	0	0	7053	962	34	4	2193	4	HCN3	1	155258092	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	155258092	93992529	1021	24523	42	2									
ASH1L	55870	broad.mit.edu	37	chr1	155311800	155311800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttggtgcagacaggatagCggttccggtggatcttgtaa	8	12	15	6	2	1	1	0	0	1	1	2	3	2	3	1	5	2	4	1	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155311800C>T	ENST00000368346.3	-	25	9041	c.8402G>A	c.(8401-8403)cGc>cAc	p.R2801H	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2796H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2801					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			GACAGGATAGCGGTTCCGGTG	0.463													T	155311800	C	T	155311800	3	4	364	1	0	0	0	0	1	0	0	0	1046	768	27	1	523	1	ASH1L	1	155311800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53708	155311800	93938821	1022	24524											
ASH1L	55870	broad.mit.edu	37	chr1	155317611	155317611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatctcatcaatctgggCtgatgcctcatgccgggcat	9	10	9	13	1	4	1	3	1	2	0	5	1	4	1	2	2	2	2	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155317611C>T	ENST00000368346.3	-	20	8293	c.7654G>A	c.(7654-7656)Gcc>Acc	p.A2552T	ASH1L_ENST00000392403.3_Missense_Mutation_p.A2547T			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2552					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TCAATCTGGGCTGATGCCTCA	0.488													T	155317611	C	T	155317611	3	4	364	1	0	0	0	0	1	0	0	0	1046	797	28	2	1291	2	ASH1L	1	155317611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5811	155317611	93933010	1023	24525											
ASH1L	55870	broad.mit.edu	37	chr1	155349914	155349915	+	Frame_Shift_Ins	INS	-	-	A																															cttagatactttcctgaaacINSaaaaaacactattaatttca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155349914_155349915insA	ENST00000368346.3	-	8	6750_6751	c.6111_6112insT	c.(6109-6114)tttgttfs	p.V2038fs	ASH1L_ENST00000392403.3_Intron			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2038					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TTTCCTGAAACAAAAAACACTA	0.322													A	155349915	-	A	155349914	7	5	364	1	0	1	1	0	0	0	0	0	1046	493	17	0		0	ASH1L	1	155349914	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	32303	155349914	93900707	1024	24526											
ASH1L	55870	broad.mit.edu	37	chr1	155447933	155447933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactttctgaacagtcaatCtgtaaaggtgtctgcaatcc	12	12	8	9	0	4	1	1	1	3	0	5	2	5	1	1	1	3	2	1	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155447933C>A	ENST00000368346.3	-	3	5367	c.4728G>T	c.(4726-4728)caG>caT	p.Q1576H	ASH1L_ENST00000392403.3_Missense_Mutation_p.Q1576H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1576					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			AACAGTCAATCTGTAAAGGTG	0.458													A	155447933	C	A	155447933	3	1	364	1	0	0	0	0	1	0	0	0	1046	912	32	4	4270	4	ASH1L	1	155447933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98019	155447933	93802688	1025	24527											
ASH1L	55870	broad.mit.edu	37	chr1	155449532	155449532	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcctatataaatggtTcctttcttgctgacatttat	8	20	4	9	0	2	1	0	1	2	0	4	1	4	1	2	1	1	2	2	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155449532T>C	ENST00000368346.3	-	3	3768	c.3129A>G	c.(3127-3129)ggA>ggG	p.G1043G	ASH1L_ENST00000392403.3_Silent_p.G1043G			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1043					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			TATAAATGGTTCCTTTCTTGC	0.398													C	155449532	T	C	155449532	2	2	364	1	0	0	0	0	0	0	0	1	1046	1770	62	3		3	ASH1L	1	155449532	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1599	155449532	93801089	1026	24528											
YY1AP1	55249	broad.mit.edu	37	chr1	155642405	155642405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgctgacatgtgtgctgaAgtcttcaatcagctgcatag	11	12	10	8	0	3	2	2	2	1	0	3	2	3	2	0	0	4	4	0	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155642405A>C	ENST00000368340.5	-	6	1051	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	YY1AP1_ENST00000359205.5_Missense_Mutation_p.F166V|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000311573.5_Missense_Mutation_p.F166V|YY1AP1_ENST00000407221.1_Missense_Mutation_p.F166V|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Missense_Mutation_p.F315V|YY1AP1_ENST00000404643.1_Missense_Mutation_p.F177V|YY1AP1_ENST00000535662.1_Missense_Mutation_p.F43V|YY1AP1_ENST00000347088.5_Missense_Mutation_p.F177V|YY1AP1_ENST00000355499.4_Missense_Mutation_p.F177V|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Missense_Mutation_p.F315V|YY1AP1_ENST00000295566.4_Missense_Mutation_p.F243V|YY1AP1_ENST00000368330.2_Missense_Mutation_p.F177V|YY1AP1_ENST00000361831.5_Missense_Mutation_p.F166V	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TGTGTGCTGAAGTCTTCAATC	0.473													C	155642405	A	C	155642405	3	2	364	1	0	0	0	0	1	0	0	0	17610	72	3	5	1743	5	YY1AP1	1	155642405	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	192873	155642405	93608216	1027	24529											
YY1AP1	55249	broad.mit.edu	37	chr1	155649201	155649201	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcttcaactagcctaccGtagagcttgaggggtgttaa	10	11	12	8	1	2	2	1	1	1	1	2	2	2	2	2	3	4	3	2	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649201G>A	ENST00000368340.5	-	3	646	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	YY1AP1_ENST00000359205.5_Splice_Site_p.R31W|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Splice_Site_p.R42W|YY1AP1_ENST00000311573.5_Splice_Site_p.R31W|YY1AP1_ENST00000407221.1_Splice_Site_p.R31W|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Splice_Site_p.R180W|YY1AP1_ENST00000404643.1_Splice_Site_p.R42W|YY1AP1_ENST00000347088.5_Splice_Site_p.R42W|YY1AP1_ENST00000355499.4_Splice_Site_p.R42W|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Splice_Site_p.R180W|YY1AP1_ENST00000295566.4_Splice_Site_p.R108W|YY1AP1_ENST00000368330.2_Splice_Site_p.R42W|YY1AP1_ENST00000361831.5_Splice_Site_p.R31W	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					CTAGCCTACCGTAGAGCTTGA	0.453													A	155649201	G	A	155649201	5	1	364	1	0	0	0	0	0	0	1	0	17610	1159	40	1	2160	1	YY1AP1	1	155649201	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6796	155649201	93601420	1028	24530											
YY1AP1	55249	broad.mit.edu	37	chr1	155649258	155649258	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacacgctcctcctcttCtgggccatcatcttccatgt	6	12	6	17	1	4	0	1	0	3	0	7	0	7	0	5	1	1	1	5	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155649258C>A	ENST00000368340.5	-	3	589	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	YY1AP1_ENST00000359205.5_Nonsense_Mutation_p.E12*|MSTO1_ENST00000538143.1_Intron|YY1AP1_ENST00000438245.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000311573.5_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000407221.1_Nonsense_Mutation_p.E12*|YY1AP1_ENST00000476093.1_5'UTR|YY1AP1_ENST00000405763.3_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000404643.1_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000347088.5_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000355499.4_Nonsense_Mutation_p.E23*|MSTO1_ENST00000452804.2_Intron|YY1AP1_ENST00000368339.5_Nonsense_Mutation_p.E161*|YY1AP1_ENST00000295566.4_Nonsense_Mutation_p.E89*|YY1AP1_ENST00000368330.2_Nonsense_Mutation_p.E23*|YY1AP1_ENST00000361831.5_Nonsense_Mutation_p.E12*	NM_001198904.1	NP_001185833.1			YY1 associated protein 1											central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(7)|ovary(2)|skin(2)|urinary_tract(2)	31	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					TCCTCCTCTTCTGGGCCATCA	0.493													A	155649258	C	A	155649258	4	1	364	1	0	0	0	0	0	1	0	0	17610	922	32	4	2217	4	YY1AP1	1	155649258	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57	155649258	93601363	1029	24531											
DAP3	7818	broad.mit.edu	37	chr1	155695804	155695804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actggctgatactacatattCcagatggtaagaacttcctg	12	12	8	9	0	0	3	0	1	0	2	2	3	2	3	2	2	3	2	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155695804C>A	ENST00000368336.5	+	6	590	c.466C>A	c.(466-468)Cca>Aca	p.P156T	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000535183.1_Missense_Mutation_p.P115T|DAP3_ENST00000343043.3_Missense_Mutation_p.P156T|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000421487.2_Missense_Mutation_p.P122T|DAP3_ENST00000496863.1_Intron|DAP3_ENST00000471642.2_Missense_Mutation_p.P115T	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	156					induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ACTACATATTCCAGATGGTAA	0.368													A	155695804	C	A	155695804	3	1	364	1	0	0	0	0	1	0	0	0	4268	855	30	4	484	4	DAP3	1	155695804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46546	155695804	93554817	1030	24532											
MSTO1	55154	broad.mit.edu	37	chr1	155717733	155717733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcgaatcccattgggagaGtggcttaatgcaaactggtt	11	12	11	7	1	0	1	0	0	0	1	2	3	1	1	1	3	2	3	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155717733G>T	ENST00000452804.2	+	7	1001	c.940G>T	c.(940-942)Gtg>Ttg	p.V314L				Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	0					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					CATTGGGAGAGTGGCTTAATG	0.488													T	155717733	G	T	155717733	3	4	364	1	0	0	0	0	1	0	0	0	9970	1044	36	4		4	MSTO1	1	155717733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21929	155717733	93532888	1031	24533											
GON4L	54856	broad.mit.edu	37	chr1	155735951	155735951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaacttagaaggggcaaGggagggcagcattaccttgg	12	7	15	7	1	0	1	0	0	0	1	1	3	0	2	1	5	3	3	1	5	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155735951G>T	ENST00000437809.1	-	21	3435	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.L1105I|GON4L_ENST00000368331.1_Missense_Mutation_p.L1105I|GON4L_ENST00000271883.5_Missense_Mutation_p.L1105I	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	1105					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GAAGGGGCAAGGGAGGGCAGC	0.557													T	155735951	G	T	155735951	3	4	364	1	0	0	0	0	1	0	0	0	6625	1000	35	4	3574	4	GON4L	1	155735951	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18218	155735951	93514670	1032	24534											
GON4L	54856	broad.mit.edu	37	chr1	155740923	155740923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactgtcagttggtgggCagttttgcaggttagaaggt	7	14	14	6	0	2	1	2	0	1	1	3	1	2	1	0	4	1	5	0	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155740923C>T	ENST00000437809.1	-	19	2703	c.2581G>A	c.(2581-2583)Gcc>Acc	p.A861T	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.A861T|GON4L_ENST00000368331.1_Missense_Mutation_p.A861T|GON4L_ENST00000271883.5_Missense_Mutation_p.A861T	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	861					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					AGTTGGTGGGCAGTTTTGCAG	0.443													T	155740923	C	T	155740923	3	4	364	1	0	0	0	0	1	0	0	0	6625	710	25	2	4314	2	GON4L	1	155740923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4972	155740923	93509698	1033	24535											
GON4L	54856	broad.mit.edu	37	chr1	155774865	155774865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctctgcctctaattggCccaggggaacatctttcagg	8	10	12	11	0	4	0	1	0	3	0	4	2	4	2	2	5	3	1	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155774865C>T	ENST00000437809.1	-	11	1642	c.1520G>A	c.(1519-1521)gGc>gAc	p.G507D	GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.G507D|GON4L_ENST00000368331.1_Missense_Mutation_p.G507D|GON4L_ENST00000271883.5_Missense_Mutation_p.G507D	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	507					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CTCTAATTGGCCCAGGGGAAC	0.502													T	155774865	C	T	155774865	3	4	364	1	0	0	0	0	1	0	0	0	6625	739	26	2	5407	2	GON4L	1	155774865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33942	155774865	93475756	1034	24536											
KIAA0907	22889	broad.mit.edu	37	chr1	155884087	155884087	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccaaatcccttctctgtaGttttcatcttcttggctgga	7	16	7	11	0	4	0	1	0	3	0	6	1	5	1	2	2	1	3	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155884087G>T	ENST00000368321.3	-	14	1693	c.1670C>A	c.(1669-1671)aCt>aAt	p.T557N	KIAA0907_ENST00000368320.3_3'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	557										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CTTCTCTGTAGTTTTCATCTT	0.403													T	155884087	G	T	155884087	3	4	364	1	0	0	0	0	1	0	0	0	8257	1029	36	4	178	4	KIAA0907	1	155884087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109222	155884087	93366534	1035	24537											
KIAA0907	22889	broad.mit.edu	37	chr1	155899590	155899590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctaccaccaggtcatcCttgcttttattgctagttag	8	15	7	11	0	2	0	2	0	0	0	3	0	3	0	3	1	4	4	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155899590C>A	ENST00000368320.3	-	3	322	c.297G>T	c.(295-297)aaG>aaT	p.K99N	KIAA0907_ENST00000482337.1_5'UTR|KIAA0907_ENST00000368321.3_Missense_Mutation_p.K99N|KIAA0907_ENST00000368319.3_Missense_Mutation_p.K99N			Q7Z7F0	K0907_HUMAN	KIAA0907	99										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CCAGGTCATCCTTGCTTTTAT	0.393													A	155899590	C	A	155899590	3	1	364	1	0	0	0	0	1	0	0	0	8257	680	24	4	1595	4	KIAA0907	1	155899590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15503	155899590	93351031	1036	24538											
RXFP4	339403	broad.mit.edu	37	chr1	155912066	155912066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggtgtgtggtgtgcGcctttgcctgctgcgtttcc	1	14	17	9	2	0	1	0	1	0	0	1	1	1	1	3	3	4	2	3	3	0	2	rs145457936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155912066G>A	ENST00000368318.3	+	1	587	c.566G>A	c.(565-567)cGc>cAc	p.R189H		NM_181885.2	NP_871001.1	Q8TDU9	RL3R2_HUMAN	relaxin/insulin-like family peptide receptor 4	189						integral to membrane|plasma membrane	angiotensin type II receptor activity			endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	13	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGTGGTGTGCGCCTTTGCCTG	0.662													A	155912066	G	A	155912066	3	1	364	1	0	0	0	0	1	0	0	0	13853	1087	38	1	568	1	RXFP4	1	155912066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12476	155912066	93338555	1037	24539											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932403	155932403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggatgaattgctggaagCgtttgtctcgggcgtacagc	7	10	14	10	4	1	1	0	1	1	0	2	3	1	3	1	3	4	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932403C>T	ENST00000462460.2	-	13	1471	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R333H|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R362H|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R333H|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R361H|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R360H			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding	p.R333H(1)		breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGCTGGAAGCGTTTGTCTCG	0.577													T	155932403	C	T	155932403	3	4	364	1	0	0	0	0	1	0	0	0	906	768	27	1	1934	1	ARHGEF2	1	155932403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20337	155932403	93318218	1038	24540											
ARHGEF2	9181	broad.mit.edu	37	chr1	155932767	155932767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggatgacaaagttcCgggtgctgccagggcacagg	10	6	16	9	2	0	1	0	1	0	0	1	3	1	2	2	4	3	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:155932767C>T	ENST00000462460.2	-	12	1321	c.1067G>A	c.(1066-1068)cGg>cAg	p.R356Q	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R312Q|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R283Q|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R311Q|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R310Q			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		DH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GACAAAGTTCCGGGTGCTGCC	0.597													T	155932767	C	T	155932767	3	4	364	1	0	0	0	0	1	0	0	0	906	652	23	1	2088	1	ARHGEF2	1	155932767	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	364	155932767	93317854	1039	24541											
RAB25	57111	broad.mit.edu	37	chr1	156038068	156038068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattcccacccaggtactatCgtggtgcagtgggggccctc	6	9	12	14	1	0	0	0	0	0	0	3	0	1	0	3	4	2	2	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156038068C>T	ENST00000361084.5	+	3	488	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	RAB25_ENST00000487325.1_3'UTR	NM_020387.2	NP_065120.2	P57735	RAB25_HUMAN	RAB25, member RAS oncogene family	83					positive regulation of cell proliferation|protein transport|pseudopodium organization|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|pseudopodium membrane	GTP binding|identical protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	Hepatocellular(266;0.158)|all_neural(408;0.195)					CAGGTACTATCGTGGTGCAGT	0.562													T	156038068	C	T	156038068	3	4	364	1	0	0	0	0	1	0	0	0	13000	884	31	1	257	1	RAB25	1	156038068	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105301	156038068	93212553	1040	24542											
MEX3A	92312	broad.mit.edu	37	chr1	156046973	156046973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtgcacccgccaggcgtCggagtagcggctatcgattg	6	8	15	12	5	0	0	0	0	0	0	2	2	0	1	2	4	2	3	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156046973C>T	ENST00000532414.2	-	2	954	c.955G>A	c.(955-957)Gac>Aac	p.D319N	MEX3A_ENST00000442784.1_5'UTR	NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	319						cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CGCCAGGCGTCGGAGTAGCGG	0.642													T	156046973	C	T	156046973	3	4	364	1	0	0	0	0	1	0	0	0	9584	884	31	1	611	1	MEX3A	1	156046973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8905	156046973	93203648	1041	24543											
LMNA	4000	broad.mit.edu	37	chr1	156104987	156104987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctccagctggacaatGccaggcagtctgctgagagg	8	7	12	14	0	1	1	0	1	1	1	3	3	3	2	4	3	3	3	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156104987G>A	ENST00000368300.4	+	5	1032	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	LMNA_ENST00000368297.1_Missense_Mutation_p.A193T|LMNA_ENST00000448611.2_Missense_Mutation_p.A162T|LMNA_ENST00000361308.4_Missense_Mutation_p.A274T|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000392353.3_Missense_Mutation_p.A193T|LMNA_ENST00000368301.2_Missense_Mutation_p.A274T|LMNA_ENST00000368299.3_Missense_Mutation_p.A274T|LMNA_ENST00000347559.2_Missense_Mutation_p.A274T|LMNA_ENST00000473598.2_Missense_Mutation_p.A175T	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	274	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					GCTGGACAATGCCAGGCAGTC	0.637									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				A	156104987	G	A	156104987	3	1	364	1	0	0	0	0	1	0	0	0	8909	1319	46	2	838	2	LMNA	1	156104987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58014	156104987	93145634	1042	24544											
PMF1	11243	broad.mit.edu	37	chr1	156202117	156202117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcccgccagctaccaGagattcactgactgctataa	10	10	6	15	1	1	2	1	1	0	1	3	3	3	2	4	0	3	2	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156202117G>T	ENST00000368277.3	+	2	177	c.168G>T	c.(166-168)caG>caT	p.Q56H	PMF1_ENST00000565805.1_Missense_Mutation_p.Q56H|PMF1_ENST00000567140.1_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000368276.4_Missense_Mutation_p.Q56H|PMF1-BGLAP_ENST00000320139.5_Missense_Mutation_p.Q56H|PMF1_ENST00000368273.4_Intron|PMF1-BGLAP_ENST00000490491.1_Missense_Mutation_p.Q56H|PMF1_ENST00000368279.3_Missense_Mutation_p.Q56H	NM_007221.3	NP_009152.2			polyamine-modulated factor 1											kidney(1)|large_intestine(2)|lung(3)	6	Hepatocellular(266;0.158)					CCAGCTACCAGAGATTCACTG	0.537													T	156202117	G	T	156202117	3	4	364	1	0	0	0	0	1	0	0	0	12210	933	33	4	174	4	PMF1	1	156202117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97130	156202117	93048504	1043	24545											
PAQR6	79957	broad.mit.edu	37	chr1	156214110	156214110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggccagccaggctctgCgtgatcccatatcagccagc	7	8	12	14	1	2	1	1	1	1	0	3	1	3	1	4	2	4	1	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156214110C>T	ENST00000335852.1	-	7	1213	c.598G>A	c.(598-600)Gca>Aca	p.A200T	PAQR6_ENST00000368270.1_Missense_Mutation_p.R258H|PAQR6_ENST00000356983.2_Missense_Mutation_p.A200T|PAQR6_ENST00000540423.1_Missense_Mutation_p.R279H|PAQR6_ENST00000292291.5_Missense_Mutation_p.R282H|PAQR6_ENST00000492619.1_5'UTR	NM_024897.3	NP_079173.2	Q6TCH4	PAQR6_HUMAN	progestin and adipoQ receptor family member VI	56						integral to membrane	receptor activity			lung(4)|ovary(1)	5	Hepatocellular(266;0.158)					CCAGGCTCTGCGTGATCCCAT	0.607													T	156214110	C	T	156214110	3	4	364	1	0	0	0	0	1	0	0	0	11515	768	27	1	461	1	PAQR6	1	156214110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11993	156214110	93036511	1044	24546											
SMG5	23381	broad.mit.edu	37	chr1	156228930	156228930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaatgaccaaagctgcGgatgcagcagatgcgcacca	14	5	12	10	2	0	3	0	2	0	1	0	5	0	4	2	1	5	4	2	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156228930G>A	ENST00000361813.5	-	16	2452	c.2308C>T	c.(2308-2310)Cgc>Tgc	p.R770C	SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	770					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|nucleus	protein phosphatase 2A binding			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CCAAAGCTGCGGATGCAGCAG	0.612													A	156228930	G	A	156228930	3	1	364	1	0	0	0	0	1	0	0	0	14890	1116	39	1	770	1	SMG5	1	156228930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14820	156228930	93021691	1045	24547											
VHLL	391104	broad.mit.edu	37	chr1	156268735	156268735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtccctgccgggcagcagCgtcaggtagggcagcagctt	8	6	15	12	2	1	0	1	0	0	0	2	0	2	0	2	3	5	6	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156268735C>T	ENST00000339922.3	-	1	693	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_001004319.2	NP_001004319.1	Q6RSH7	VHLL_HUMAN	von Hippel-Lindau tumor suppressor-like	82	Beta-domain.				protein ubiquitination	nucleus				endometrium(1)|lung(2)|ovary(1)	4	Hepatocellular(266;0.158)					CGGGCAGCAGCGTCAGGTAGG	0.557													T	156268735	C	T	156268735	2	4	364	1	0	0	0	0	0	0	0	1	17265	755	27	1		1	VHLL	1	156268735	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39805	156268735	92981886	1046	24548											
CCT3	7203	broad.mit.edu	37	chr1	156287301	156287301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctccatctggagaattCgggtgaagtcctcctctcgt	6	13	9	13	2	2	2	0	1	2	1	8	3	6	2	4	2	0	0	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156287301C>T	ENST00000295688.3	-	9	1077	c.797G>A	c.(796-798)cGa>cAa	p.R266Q	CCT3_ENST00000368259.2_Missense_Mutation_p.R228Q|CCT3_ENST00000472765.2_Missense_Mutation_p.R221Q|CCT3_ENST00000368261.3_Missense_Mutation_p.R221Q	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	266					'de novo' posttranslational protein folding	cytoskeleton|cytosol|plasma membrane	ATP binding|unfolded protein binding			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					CTGGAGAATTCGGGTGAAGTC	0.473													T	156287301	C	T	156287301	3	4	364	1	0	0	0	0	1	0	0	0	2984	884	31	1	864	1	CCT3	1	156287301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18566	156287301	92963320	1047	24549											
RHBG	57127	broad.mit.edu	37	chr1	156347153	156347153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatggtcttcctgcaGcgttacggcttcagcagcgt	5	13	10	13	3	3	0	2	0	1	0	5	0	5	0	2	2	5	4	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156347153G>T	ENST00000400992.2	+	3	410	c.42G>T	c.(40-42)caG>caT	p.Q14H	RHBG_ENST00000368246.2_Missense_Mutation_p.Q83H|RHBG_ENST00000255013.3_Missense_Mutation_p.Q14H|RHBG_ENST00000451864.2_Missense_Mutation_p.Q14H|RHBG_ENST00000537040.1_Intron|RHBG_ENST00000368249.1_Missense_Mutation_p.Q83H			Q9H310	RHBG_HUMAN	Rh family, B glycoprotein (gene/pseudogene)	83					transepithelial ammonium transport	anchored to plasma membrane|basolateral plasma membrane|cytoplasmic vesicle membrane|integral to plasma membrane|spectrin-associated cytoskeleton	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					TCTTCCTGCAGCGTTACGGCT	0.642													T	156347153	G	T	156347153	3	4	364	1	0	0	0	0	1	0	0	0	13413	962	34	4	255	4	RHBG	1	156347153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59852	156347153	92903468	1048	24550											
IQGAP3	128239	broad.mit.edu	37	chr1	156536333	156536333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttcaggcaggcctccAtccagctatgaacatgagaa	11	8	8	14	0	1	2	1	2	0	1	4	3	4	2	5	2	2	2	5	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156536333A>G	ENST00000361170.2	-	3	141	c.131T>C	c.(130-132)aTg>aCg	p.M44T		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	44	CH.				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)					GCAGGCCTCCATCCAGCTATG	0.547													G	156536333	A	G	156536333	3	3	364	1	0	0	0	0	1	0	0	0	7874	217	8	3	4908	3	IQGAP3	1	156536333	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189180	156536333	92714288	1049	24551											
APOA1BP	128240	broad.mit.edu	37	chr1	156562167	156562167	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgccttcaggcatatccccCcacgtccatgtccaggagcc	7	8	8	18	1	1	0	1	0	0	0	4	1	4	1	7	2	2	1	7	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156562167C>A	ENST00000368235.3	+	3	345	c.302C>A	c.(301-303)cCc>cAc	p.P101H	APOA1BP_ENST00000368234.3_Missense_Mutation_p.P101H|APOA1BP_ENST00000368233.3_Missense_Mutation_p.P101H|APOA1BP_ENST00000467374.1_3'UTR	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	101	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GCATATCCCCCCACGTCCATG	0.577													A	156562167	C	A	156562167	3	1	364	1	0	0	0	0	1	0	0	0	784	623	22	4	312	4	APOA1BP	1	156562167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25834	156562167	92688454	1050	24552											
HAPLN2	60484	broad.mit.edu	37	chr1	156593868	156593868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggtcatcgcgggcgtgCgcctggaggacgagggccgg	4	5	19	13	6	1	0	1	0	0	0	2	3	1	2	3	6	1	0	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156593868C>T	ENST00000255039.1	+	4	762	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	HAPLN2_ENST00000494218.1_3'UTR	NM_021817.2	NP_068589.1	Q9GZV7	HPLN2_HUMAN	hyaluronan and proteoglycan link protein 2	119	Ig-like V-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	7	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CGCGGGCGTGCGCCTGGAGGA	0.701													T	156593868	C	T	156593868	3	4	364	1	0	0	0	0	1	0	0	0	7010	768	27	1	361	1	HAPLN2	1	156593868	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31701	156593868	92656753	1051	24553											
BCAN	63827	broad.mit.edu	37	chr1	156617885	156617885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctatgatgtgtactgttAtgctgaagacctaaatggtg	10	14	10	7	0	1	3	0	2	1	1	1	3	1	3	2	1	2	3	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156617885A>G	ENST00000329117.5	+	5	1088	c.752A>G	c.(751-753)tAt>tGt	p.Y251C	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.Y251C	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		Link 1.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTGTACTGTTATGCTGAAGAC	0.567													G	156617885	A	G	156617885	3	3	364	1	0	0	0	0	1	0	0	0	1350	449	16	3	766	3	BCAN	1	156617885	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24017	156617885	92632736	1052	24554											
BCAN	63827	broad.mit.edu	37	chr1	156622669	156622669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgaggtggagtggccGtggtccccgcatcaggtaat	7	7	15	12	3	1	0	1	0	0	0	2	2	2	1	5	5	1	2	5	5	1	1	rs148943492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156622669G>A	ENST00000329117.5	+	8	2263	c.1927G>A	c.(1927-1929)Gtg>Atg	p.V643M	RP11-284F21.7_ENST00000448869.1_RNA|BCAN_ENST00000361588.5_Missense_Mutation_p.V643M	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TGGAGTGGCCGTGGTCCCCGC	0.602													A	156622669	G	A	156622669	3	1	364	1	0	0	0	0	1	0	0	0	1350	1145	40	1	1953	1	BCAN	1	156622669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4784	156622669	92627952	1053	24555											
NES	10763	broad.mit.edu	37	chr1	156642898	156642898	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtctcaagggtagcaGgcaagggtgaggggagggaa	11	5	20	5	0	1	1	1	1	1	0	2	3	1	3	0	7	1	3	0	7	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156642898G>T	ENST00000368223.3	-	4	1214	c.1082C>A	c.(1081-1083)cCt>cAt	p.P361H		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	361	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGGGTAGCAGGCAAGGGTGA	0.612													T	156642898	G	T	156642898	3	4	364	1	0	0	0	0	1	0	0	0	10413	1000	35	4	3787	4	NES	1	156642898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20229	156642898	92607723	1054	24556											
CRABP2	1382	broad.mit.edu	37	chr1	156670687	156670687	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagggcctcccatccacAgtctgctcctcaaactcctc	8	10	5	18	0	2	0	1	0	1	0	7	0	6	0	5	1	3	1	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156670687A>C	ENST00000368222.3	-	2	382	c.228T>G	c.(226-228)acT>acG	p.T76T	CRABP2_ENST00000368221.1_Silent_p.T76T	NM_001199723.1|NM_001878.3	NP_001186652.1|NP_001869.1	P29373	RABP2_HUMAN	cellular retinoic acid binding protein 2	76					epidermis development|regulation of transcription, DNA-dependent|signal transduction	cytoplasm|nucleus	retinal binding|retinol binding|transporter activity			endometrium(2)|lung(3)|upper_aerodigestive_tract(1)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)				Alitretinoin(DB00523)	TCCCATCCACAGTCTGCTCCT	0.537													C	156670687	A	C	156670687	2	2	364	1	0	0	0	0	0	0	0	1	3875	175	7	5		5	CRABP2	1	156670687	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27789	156670687	92579934	1055	24557											
MRPL24	79590	broad.mit.edu	37	chr1	156708198	156708198	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgaaccactttgccctgCttcccggcatccttgccttc	5	13	6	17	1	0	1	0	1	0	0	3	1	2	1	5	1	4	2	5	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156708198C>T	ENST00000368211.4	-	3	354	c.216G>A	c.(214-216)aaG>aaA	p.K72K	MRPL24_ENST00000361531.2_Silent_p.K72K	NM_024540.3|NM_145729.2	NP_078816.2|NP_663781.1	Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	72	KOW.				translation	mitochondrion|ribosome	structural constituent of ribosome			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTTGCCCTGCTTCCCGGCAT	0.577													T	156708198	C	T	156708198	2	4	364	1	0	0	0	0	0	0	0	1	9866	796	28	2		2	MRPL24	1	156708198	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37511	156708198	92542423	1056	24558											
INSRR	3645	broad.mit.edu	37	chr1	156819161	156819161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgcgggttgaaggcgaagtAgatcttgcccacgggaatgg	9	7	17	8	4	1	2	0	1	1	1	1	4	1	3	1	4	1	2	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156819161A>G	ENST00000368195.3	-	6	1717	c.1321T>C	c.(1321-1323)Tac>Cac	p.Y441H	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	441					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGGCGAAGTAGATCTTGCCC	0.607													G	156819161	A	G	156819161	3	3	364	1	0	0	0	0	1	0	0	0	7832	420	15	3	2639	3	INSRR	1	156819161	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110963	156819161	92431460	1057	24559											
PEAR1	375033	broad.mit.edu	37	chr1	156880106	156880106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgcaagaatgggggcAcctgtctccctgagaatggc	9	7	13	12	0	1	2	0	1	1	2	2	3	1	2	3	3	1	3	3	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156880106A>G	ENST00000338302.3	+	15	1984	c.1759A>G	c.(1759-1761)Acc>Gcc	p.T587A	PEAR1_ENST00000292357.7_Missense_Mutation_p.T587A			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	587	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GAATGGGGGCACCTGTCTCCC	0.637											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	156880106	A	G	156880106	3	3	364	1	0	0	0	0	1	0	0	0	11788	159	6	3	1809	3	PEAR1	1	156880106	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60945	156880106	92370515	1058	24560											
ARHGEF11	9826	broad.mit.edu	37	chr1	156914914	156914914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctgtttgttttaccGcttcattcacatacttgaga	7	18	7	9	1	3	1	2	1	1	1	4	2	3	1	1	1	2	4	1	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:156914914G>A	ENST00000368194.3	-	30	3927	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	ARHGEF11_ENST00000315174.8_Missense_Mutation_p.A339V|ARHGEF11_ENST00000487682.1_5'UTR|ARHGEF11_ENST00000361409.2_Missense_Mutation_p.A923V	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11	923					actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TTGTTTTACCGCTTCATTCAC	0.577													A	156914914	G	A	156914914	3	1	364	1	0	0	0	0	1	0	0	0	899	1087	38	1	1848	1	ARHGEF11	1	156914914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34808	156914914	92335707	1059	24561											
ARHGEF11	9826	broad.mit.edu	37	chr1	157014177	157014177	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctttggtgtcttgatcaGgattgaatcgcttgcaattt	8	17	10	6	1	2	2	1	2	1	0	3	3	2	3	0	2	2	3	0	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157014177G>T	ENST00000368194.3	-	0	985				ARHGEF11_ENST00000361409.2_De_novo_Start_OutOfFrame	NM_198236.2	NP_937879.1	O15085	ARHGB_HUMAN	Rho guanine nucleotide exchange factor (GEF) 11						actin cytoskeleton organization|apoptosis|axon guidance|cellular component movement|cytokinesis|establishment of cell polarity|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cell growth|regulation of Rho protein signal transduction|Rho protein signal transduction|striated muscle contraction	cytosol|Golgi apparatus|plasma membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(27)|ovary(4)|pancreas(2)|pleura(1)|prostate(4)|skin(7)|stomach(1)|urinary_tract(2)	81	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GTCTTGATCAGGATTGAATCG	0.473													T	157014177	G	T	157014177	1	4	364	1	0	0	0	0	0	0	0	0	899	1015	35	4		4	ARHGEF11	1	157014177	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99263	157014177	92236444	1060	24562											
FCRL5	83416	broad.mit.edu	37	chr1	157494299	157494299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggtcccccaccacaGcctgggccctgggagccctg	6	4	12	19	0	0	0	0	0	0	0	1	1	1	1	7	3	3	1	7	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157494299G>T	ENST00000361835.3	-	10	2166	c.2009C>A	c.(2008-2010)gCt>gAt	p.A670D	FCRL5_ENST00000356953.4_Missense_Mutation_p.A670D|FCRL5_ENST00000368190.3_Missense_Mutation_p.A670D|FCRL5_ENST00000368191.3_Missense_Mutation_p.A585D	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	670	Ig-like C2-type 7.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CCCCACCACAGCCTGGGCCCT	0.527													T	157494299	G	T	157494299	3	4	364	1	0	0	0	0	1	0	0	0	5847	971	34	4	956	4	FCRL5	1	157494299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480122	157494299	91756322	1061	24563											
CD5L	922	broad.mit.edu	37	chr1	157805642	157805642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactctcacacgatgccccaGcatcttcatcatgtgaacaa	12	9	5	15	1	4	1	3	1	2	0	5	2	4	1	2	0	3	1	2	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:157805642G>T	ENST00000368174.4	-	3	455	c.359C>A	c.(358-360)gCt>gAt	p.A120D		NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	120	SRCR 1.				apoptosis|cellular defense response	extracellular space|membrane	scavenger receptor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CGATGCCCCAGCATCTTCATC	0.498													T	157805642	G	T	157805642	3	4	364	1	0	0	0	0	1	0	0	0	3057	971	34	4	700	4	CD5L	1	157805642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311343	157805642	91444979	1062	24564											
KIRREL	55243	broad.mit.edu	37	chr1	158064462	158064462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggctactacaacgtgcGtgcccatgaagaccgcccgt	10	7	10	14	4	0	2	0	1	0	1	0	2	0	2	3	1	5	1	3	1	5	2	rs147886424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158064462G>A	ENST00000368172.1	+	11	1280	c.1268G>A	c.(1267-1269)cGt>cAt	p.R423H	KIRREL_ENST00000359209.6_Missense_Mutation_p.R609H|KIRREL_ENST00000368173.3_Missense_Mutation_p.R625H|KIRREL_ENST00000392272.2_Missense_Mutation_p.R506H|KIRREL_ENST00000360089.4_Missense_Mutation_p.R445H|KIRREL_ENST00000416935.2_Missense_Mutation_p.R509H			Q96J84	KIRR1_HUMAN	kin of IRRE like (Drosophila)	609	Ig-like C2-type 5.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(5)|skin(3)|stomach(1)	38	all_hematologic(112;0.0378)					TACAACGTGCGTGCCCATGAA	0.622													A	158064462	G	A	158064462	3	1	364	1	0	0	0	0	1	0	0	0	8382	1145	40	1	1884	1	KIRREL	1	158064462	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258820	158064462	91186159	1063	24565											
CD1A	909	broad.mit.edu	37	chr1	158224912	158224912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttccatgtcacctggatcGcatccttttacaaccattcc	8	13	4	16	1	1	0	1	0	0	0	5	1	4	1	6	1	2	1	6	1	2	4	rs140904380	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158224912G>A	ENST00000289429.5	+	2	630	c.97G>A	c.(97-99)Gca>Aca	p.A33T		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	33					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.A33T(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CACCTGGATCGCATCCTTTTA	0.468													A	158224912	G	A	158224912	3	1	364	1	0	0	0	0	1	0	0	0	3004	1087	38	1	103	1	CD1A	1	158224912	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160450	158224912	91025709	1064	24566											
CD1A	909	broad.mit.edu	37	chr1	158225851	158225851	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactctggaaaggtctcagGaagcttcttgcagttagctt	9	12	11	9	0	3	0	1	0	3	0	4	2	3	2	0	3	3	5	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158225851G>T	ENST00000289429.5	+	3	916	c.383G>T	c.(382-384)gGa>gTa	p.G128V		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	128					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	AAGGTCTCAGGAAGCTTCTTG	0.438													T	158225851	G	T	158225851	3	4	364	1	0	0	0	0	1	0	0	0	3004	1174	41	4	393	4	CD1A	1	158225851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	939	158225851	91024770	1065	24567											
CD1A	909	broad.mit.edu	37	chr1	158227281	158227281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttctgataggtcttgcGctttggttcaggaaacgctg	6	15	11	9	2	4	1	1	1	3	0	4	2	4	2	0	3	2	3	0	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158227281G>A	ENST00000289429.5	+	5	1487	c.954G>A	c.(952-954)gcG>gcA	p.A318A		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	318					antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex		p.A318A(1)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	TAGGTCTTGCGCTTTGGTTCA	0.458													A	158227281	G	A	158227281	2	1	364	1	0	0	0	0	0	0	0	1	3004	1074	38	1		1	CD1A	1	158227281	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1430	158227281	91023340	1066	24568											
CD1B	910	broad.mit.edu	37	chr1	158298712	158298712	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccacccacaactcaccGgcgcctcatataccataatg	14	6	4	17	2	2	0	2	0	0	0	2	0	2	0	5	1	3	0	5	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158298712G>A	ENST00000368168.3	-	5	1086	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAACTCACCGGCGCCTCATA	0.383													A	158298712	G	A	158298712	5	1	364	1	0	0	0	0	0	0	1	0	3005	1130	39	1	30	1	CD1B	1	158298712	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71431	158298712	90951909	1067	24569											
CD1B	910	broad.mit.edu	37	chr1	158299264	158299264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggttgctcggagatacCatgtccagttagcattgggc	8	10	13	10	1	0	1	0	0	0	1	2	2	1	1	3	3	3	4	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158299264C>A	ENST00000368168.3	-	4	889	c.782G>T	c.(781-783)tGg>tTg	p.W261L		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	261	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TCGGAGATACCATGTCCAGTT	0.597													A	158299264	C	A	158299264	3	1	364	1	0	0	0	0	1	0	0	0	3005	595	21	4	231	4	CD1B	1	158299264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	552	158299264	90951357	1068	24570											
CD1E	913	broad.mit.edu	37	chr1	158326667	158326667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaagaagtggaagacacGcctaaaccaactctggtgac	15	7	10	9	1	1	4	0	2	1	2	1	5	1	5	2	2	2	0	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158326667G>A	ENST00000444681.2	+	5	1144	c.851G>A	c.(850-852)cGc>cAc	p.R284H	CD1E_ENST00000452291.2_Missense_Mutation_p.R194H|CD1E_ENST00000368154.1_Missense_Mutation_p.R139H|CD1E_ENST00000368167.3_Missense_Mutation_p.R383H|CD1E_ENST00000368166.3_Missense_Mutation_p.R182H|CD1E_ENST00000368155.3_Missense_Mutation_p.R226H|CD1E_ENST00000368160.3_Missense_Mutation_p.R371H|CD1E_ENST00000368157.1_Missense_Mutation_p.R127H|CD1E_ENST00000368164.3_3'UTR|CD1E_ENST00000368156.1_Missense_Mutation_p.R281H|CD1E_ENST00000368161.3_3'UTR|CD1E_ENST00000368163.3_Missense_Mutation_p.R316H|CD1E_ENST00000368165.3_Missense_Mutation_p.R293H	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	383	Ig-like.				antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGGAAGACACGCCTAAACCAA	0.423													A	158326667	G	A	158326667	3	1	364	1	0	0	0	0	1	0	0	0	3008	1087	38	1	1170	1	CD1E	1	158326667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27403	158326667	90923954	1069	24571											
SPTA1	6708	broad.mit.edu	37	chr1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcattgccatcacaagCgctacactcaatcagggagt	11	10	7	13	1	5	0	4	0	1	0	5	1	5	1	1	1	3	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612230C>T	ENST00000368147.4	-	33	4888	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)					Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453													T	158612230	C	T	158612230	3	4	364	1	0	0	0	0	1	0	0	0	15212	768	27	1	2631	1	SPTA1	1	158612230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285563	158612230	90638391	1070	24572											
SPTA1	6708	broad.mit.edu	37	chr1	158612619	158612619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctgaatgttagtggcGtctttgtaggattcatcaca	8	15	10	8	1	3	1	2	1	1	0	3	2	3	2	1	2	1	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158612619G>A	ENST00000368147.4	-	32	4770	c.4590C>T	c.(4588-4590)gaC>gaT	p.D1530D		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					TGTTAGTGGCGTCTTTGTAGG	0.433													A	158612619	G	A	158612619	2	1	364	1	0	0	0	0	0	0	0	1	15212	1136	40	1		1	SPTA1	1	158612619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	389	158612619	90638002	1071	24573											
SPTA1	6708	broad.mit.edu	37	chr1	158614141	158614141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctcagggaattctcacGtgccaccatccagctctcaa	10	9	7	15	1	3	1	3	1	2	0	6	2	4	2	4	1	2	1	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158614141G>A	ENST00000368147.4	-	30	4420	c.4240C>T	c.(4240-4242)Cgt>Tgt	p.R1414C		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAATTCTCACGTGCCACCATC	0.473													A	158614141	G	A	158614141	3	1	364	1	0	0	0	0	1	0	0	0	15212	1145	40	1	3111	1	SPTA1	1	158614141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1522	158614141	90636480	1072	24574											
SPTA1	6708	broad.mit.edu	37	chr1	158637679	158637679	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagcctccagcaactcctcCcagaggctggcaacttcact	9	8	8	16	0	1	1	1	0	0	1	4	1	4	1	4	2	4	4	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158637679C>T	ENST00000368147.4	-	15	2187	c.2007G>A	c.(2005-2007)tgG>tgA	p.W669*		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCAACTCCTCCCAGAGGCTGG	0.433													T	158637679	C	T	158637679	4	4	364	1	0	0	0	0	0	1	0	0	15212	624	22	2	5404	2	SPTA1	1	158637679	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23538	158637679	90612942	1073	24575											
SPTA1	6708	broad.mit.edu	37	chr1	158641244	158641244	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgttttccaggaaggcCtgtagaagacagaaagacac	13	8	10	10	1	0	4	0	0	0	4	3	5	2	5	3	2	0	2	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158641244C>A	ENST00000368147.4	-	12	1669		c.e12-1			NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCAGGAAGGCCTGTAGAAGAC	0.498													A	158641244	C	A	158641244	5	1	364	1	0	0	0	0	0	0	1	0	15212	695	24	4	5935	4	SPTA1	1	158641244	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3565	158641244	90609377	1074	24576											
OR6K3	391114	broad.mit.edu	37	chr1	158687330	158687330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaatcagaatcatggaCgtgtctgtacaggccaggct	10	10	10	11	1	4	1	3	0	1	1	5	2	5	2	2	3	1	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158687330C>T	ENST00000368146.1	-	1	623	c.624G>A	c.(622-624)acG>acA	p.T208T	OR6K3_ENST00000368145.1_Silent_p.T192T			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					GAATCATGGACGTGTCTGTAC	0.448													T	158687330	C	T	158687330	2	4	364	1	0	0	0	0	0	0	0	1	11279	523	19	1		1	OR6K3	1	158687330	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46086	158687330	90563291	1075	24577											
OR6N1	128372	broad.mit.edu	37	chr1	158735969	158735969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgcgattggggccacaGaatgggaggcgtgaaatcaa	13	7	15	6	2	1	3	1	2	0	1	1	5	1	4	1	4	1	0	1	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158735969G>T	ENST00000335094.2	-	1	523	c.504C>A	c.(502-504)ttC>ttA	p.F168L		NM_001005185.1	NP_001005185.1	Q8NGY5	OR6N1_HUMAN	olfactory receptor, family 6, subfamily N, member 1	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_hematologic(112;0.0378)					TGGGGCCACAGAATGGGAGGC	0.478													T	158735969	G	T	158735969	3	4	364	1	0	0	0	0	1	0	0	0	11282	933	33	4	437	4	OR6N1	1	158735969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48639	158735969	90514652	1076	24578											
OR6N2	81442	broad.mit.edu	37	chr1	158747053	158747053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggaggggccgacaaatggCcaggtatctatcataggcca	11	7	14	9	1	2	0	1	0	1	0	2	2	2	1	3	6	0	1	3	6	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747053C>T	ENST00000339258.1	-	1	372	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					CGACAAATGGCCAGGTATCTA	0.502													T	158747053	C	T	158747053	3	4	364	1	0	0	0	0	1	0	0	0	11283	739	26	2	583	2	OR6N2	1	158747053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11084	158747053	90503568	1077	24579											
OR6N2	81442	broad.mit.edu	37	chr1	158747166	158747166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatggttttcttctcaCtgagaatattagacaacatc	15	13	6	7	0	2	3	1	1	2	3	4	4	2	3	0	1	1	1	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158747166C>A	ENST00000339258.1	-	1	259	c.260G>T	c.(259-261)aGt>aTt	p.S87I		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	87					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					TTTCTTCTCACTGAGAATATT	0.448													A	158747166	C	A	158747166	3	1	364	1	0	0	0	0	1	0	0	0	11283	565	20	4	696	4	OR6N2	1	158747166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113	158747166	90503455	1078	24580											
PYHIN1	149628	broad.mit.edu	37	chr1	158943460	158943460	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaacccacccaggagcAcagtcatcgcctgcaaactt	13	6	8	14	1	1	1	1	1	0	0	2	3	1	2	3	1	4	2	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158943460A>G	ENST00000368140.1	+	8	1628	c.1383A>G	c.(1381-1383)gcA>gcG	p.A461A	PYHIN1_ENST00000392254.2_Intron|PYHIN1_ENST00000392252.3_Intron|PYHIN1_ENST00000368138.3_Silent_p.A452A	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	461					cell cycle	nuclear speck				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					ACCCAGGAGCACAGTCATCGC	0.428													G	158943460	A	G	158943460	2	3	364	1	0	0	0	0	0	0	0	1	12953	146	6	3		3	PYHIN1	1	158943460	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	196294	158943460	90307161	1079	24581											
IFI16	3428	broad.mit.edu	37	chr1	158984476	158984476	+	Frame_Shift_Del	DEL	A	A	-																															cttatgtctgtaaagatgggAaaaaaatacaagaacattgt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:158984476delA	ENST00000295809.7	+	2	261	c.6delA	c.(4-6)ggafs	p.G2fs	IFI16_ENST00000368132.3_Frame_Shift_Del_p.G2fs|IFI16_ENST00000448393.2_Frame_Shift_Del_p.G2fs|IFI16_ENST00000430894.2_Frame_Shift_Del_p.G6fs|IFI16_ENST00000340979.6_Frame_Shift_Del_p.G2fs|IFI16_ENST00000368131.4_Frame_Shift_Del_p.G2fs|IFI16_ENST00000359709.3_Frame_Shift_Del_p.G2fs			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	2	DAPIN.|Lys-rich.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TAAAGATGGGAAAAAAATACA	0.313													-	158984476	A	-	158984476	7	5	364	1	0	1	0	1	0	0	0	0	7569	233	9	0	8	0	IFI16	1	158984476	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	41016	158984476	90266145	1080	24582											
OR10J3	441911	broad.mit.edu	37	chr1	159284307	159284307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatggtccaggcgaataatgGtcatgataatcacattgcca	13	10	10	8	1	2	1	2	1	0	0	3	3	3	1	2	3	1	0	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284307G>A	ENST00000332217.5	-	1	142	c.143C>T	c.(142-144)aCc>aTc	p.T48I		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GCGAATAATGGTCATGATAAT	0.478													A	159284307	G	A	159284307	3	1	364	1	0	0	0	0	1	0	0	0	10987	1261	44	2	848	2	OR10J3	1	159284307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	299831	159284307	89966314	1081	24583											
OR10J3	441911	broad.mit.edu	37	chr1	159284386	159284386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacaagtttgtgctgccGcctgaagctggagaaacctt	11	9	12	9	1	0	3	0	1	0	2	0	5	0	3	3	1	4	3	3	1	4	2	rs150299321		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159284386G>A	ENST00000332217.5	-	1	63	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTGTGCTGCCGCCTGAAGCTG	0.453													A	159284386	G	A	159284386	3	1	364	1	0	0	0	0	1	0	0	0	10987	1086	38	1	927	1	OR10J3	1	159284386	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79	159284386	89966235	1082	24584											
CRP	1401	broad.mit.edu	37	chr1	159683348	159683348	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtttggtgaacacttcGccttgcacttcatacttcag	7	14	10	10	1	2	1	2	1	0	0	3	1	2	1	1	3	3	2	1	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159683348G>A	ENST00000255030.5	-	2	745	c.642C>T	c.(640-642)ggC>ggT	p.G214G	CRP_ENST00000343919.2_Silent_p.G92G|CRP_ENST00000368111.1_Silent_p.G92G|CRP_ENST00000368110.1_Silent_p.G92G|CRP_ENST00000368112.1_Silent_p.G81G|CRP_ENST00000437342.1_Silent_p.G36G|CRP_ENST00000473196.1_5'UTR	NM_000567.2	NP_000558.2	P02741	CRP_HUMAN	C-reactive protein, pentraxin-related	214	Pentaxin.				acute-phase response|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|opsonization		choline binding|Gram-positive bacterial cell surface binding|low-density lipoprotein particle binding|metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(15)|ovary(1)|skin(1)	22	all_hematologic(112;0.0429)				Atorvastatin(DB01076)|Bezafibrate(DB01393)	TGAACACTTCGCCTTGCACTT	0.552													A	159683348	G	A	159683348	2	1	364	1	0	0	0	0	0	0	0	1	3926	1074	38	1		1	CRP	1	159683348	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	398962	159683348	89567273	1083	24585											
IGSF9	57549	broad.mit.edu	37	chr1	159897171	159897171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcggggtgggggactggCtgtcgataggctggtagccg	4	10	20	7	3	0	0	0	0	0	0	2	2	0	1	1	7	1	4	1	7	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159897171C>T	ENST00000368094.1	-	21	3701	c.3504G>A	c.(3502-3504)caG>caA	p.Q1168Q	IGSF9_ENST00000361509.3_Silent_p.Q1152Q|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	1168						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GGGGGACTGGCTGTCGATAGG	0.622													T	159897171	C	T	159897171	2	4	364	1	0	0	0	0	0	0	0	1	7663	796	28	2		2	IGSF9	1	159897171	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	213823	159897171	89353450	1084	24586											
IGSF9	57549	broad.mit.edu	37	chr1	159900180	159900180	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggaggggacaggggaggCggtatctctgttgggggaag	7	6	22	6	3	1	0	0	0	1	0	2	4	1	4	0	9	0	2	0	9	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159900180C>T	ENST00000368094.1	-	15	2060	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	IGSF9_ENST00000361509.3_Silent_p.P605P|IGSF9_ENST00000493195.1_5'UTR	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	621						cell junction|integral to membrane|synapse				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			ACAGGGGAGGCGGTATCTCTG	0.662													T	159900180	C	T	159900180	2	4	364	1	0	0	0	0	0	0	0	1	7663	755	27	1		1	IGSF9	1	159900180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3009	159900180	89350441	1085	24587											
SLAMF9	89886	broad.mit.edu	37	chr1	159921585	159921585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggccagaattaccaagaGcaagaagatgagcaatccct	16	6	9	10	0	0	5	0	1	0	4	1	5	1	5	3	1	3	2	3	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:159921585G>A	ENST00000368093.3	-	4	852	c.736C>T	c.(736-738)Ctc>Ttc	p.L246F	SLAMF9_ENST00000466773.1_5'UTR|SLAMF9_ENST00000368092.3_Missense_Mutation_p.L155F	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	246						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTACCAAGAGCAAGAAGATG	0.483													A	159921585	G	A	159921585	3	1	364	1	0	0	0	0	1	0	0	0	14465	972	34	2	137	2	SLAMF9	1	159921585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21405	159921585	89329036	1086	24588											
KCNJ10	3766	broad.mit.edu	37	chr1	160012180	160012180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccttgaggtagaggaagCgcttgtcggcaatgtgctcc	7	10	15	9	2	0	2	0	1	0	1	3	3	2	3	2	4	2	4	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160012180C>T	ENST00000368089.3	-	2	369	c.143G>A	c.(142-144)cGc>cAc	p.R48H		NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	48						integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GTAGAGGAAGCGCTTGTCGGC	0.557													T	160012180	C	T	160012180	3	4	364	1	0	0	0	0	1	0	0	0	8102	768	27	1	1000	1	KCNJ10	1	160012180	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90595	160012180	89238441	1087	24589											
IGSF8	93185	broad.mit.edu	37	chr1	160064677	160064677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcagctccaccttgcCgctgtagctgcccaggtagc	6	9	9	17	1	1	0	1	0	1	0	3	0	2	0	5	1	5	5	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160064677C>T	ENST00000368086.1	-	2	640	c.424G>A	c.(424-426)Ggc>Agc	p.G142S	IGSF8_ENST00000314485.7_Missense_Mutation_p.G142S|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	142	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.G142S(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCCACCTTGCCGCTGTAGCTG	0.617													T	160064677	C	T	160064677	3	4	364	1	0	0	0	0	1	0	0	0	7662	652	23	1	1437	1	IGSF8	1	160064677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52497	160064677	89185944	1088	24590											
ATP1A2	477	broad.mit.edu	37	chr1	160097377	160097377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgattgccacaggagacCggacggtgatgggccgcata	9	8	15	9	3	0	3	0	2	0	1	0	5	0	4	3	4	1	1	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160097377C>T	ENST00000361216.3	+	8	873	c.784C>T	c.(784-786)Cgg>Tgg	p.R262W	ATP1A2_ENST00000392233.3_Missense_Mutation_p.R262W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	262					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CACAGGAGACCGGACGGTGAT	0.592													T	160097377	C	T	160097377	3	4	364	1	0	0	0	0	1	0	0	0	1134	643	23	1	814	1	ATP1A2	1	160097377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32700	160097377	89153244	1089	24591											
CASQ1	844	broad.mit.edu	37	chr1	160162604	160162604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagttagcagcccaaGtcctagaagacaagggtgtt	11	8	10	12	0	0	2	0	0	0	2	2	2	2	2	4	1	2	3	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160162604G>A	ENST00000368079.3	+	2	549	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	CASQ1_ENST00000368078.3_Missense_Mutation_p.V98I	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	98						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			AGCAGCCCAAGTCCTAGAAGA	0.498											OREG0013927	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	160162604	G	A	160162604	3	1	364	1	0	0	0	0	1	0	0	0	2706	1029	36	2	298	2	CASQ1	1	160162604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65227	160162604	89088017	1090	24592											
CASQ1	844	broad.mit.edu	37	chr1	160165307	160165307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctacatccccttcttcGccaccttcgacagcaaggtt	8	11	5	17	2	1	0	0	0	1	0	5	1	3	0	5	1	2	2	5	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160165307G>A	ENST00000368079.3	+	5	891	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	CASQ1_ENST00000368078.3_Missense_Mutation_p.A212T	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	212						mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCCCTTCTTCGCCACCTTCGA	0.552													A	160165307	G	A	160165307	3	1	364	1	0	0	0	0	1	0	0	0	2706	1087	38	1	652	1	CASQ1	1	160165307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2703	160165307	89085314	1091	24593											
DCAF8	50717	broad.mit.edu	37	chr1	160188212	160188212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctatcttcatcccgctcccGcttgttcttcttaatcacct	5	16	4	16	2	5	0	2	0	3	0	7	0	7	0	3	0	0	4	3	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160188212G>A	ENST00000368073.3	-	13	2013	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	DCAF8_ENST00000368074.1_Missense_Mutation_p.R527W|DCAF8_ENST00000326837.2_Missense_Mutation_p.R527W|DCAF8_ENST00000608310.1_Missense_Mutation_p.R681W|DCAF8_ENST00000556710.1_Missense_Mutation_p.R681W			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	527						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						TCCCGCTCCCGCTTGTTCTTC	0.517													A	160188212	G	A	160188212	3	1	364	1	0	0	0	0	1	0	0	0	4310	1086	38	1	222	1	DCAF8	1	160188212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22905	160188212	89062409	1092	24594											
COPA	1314	broad.mit.edu	37	chr1	160261620	160261620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcttacctcacagatgcGcttctgctgttctagagtct	8	14	8	11	1	5	3	1	0	4	3	5	3	5	3	1	0	3	3	1	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160261620G>A	ENST00000241704.7	-	30	3476	c.3247C>T	c.(3247-3249)Cgc>Tgc	p.R1083C	COPA_ENST00000368069.3_Missense_Mutation_p.R1092C	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	1083					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCACAGATGCGCTTCTGCTGT	0.483											OREG0013929	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	160261620	G	A	160261620	3	1	364	1	0	0	0	0	1	0	0	0	3758	1087	38	1	443	1	COPA	1	160261620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73408	160261620	88989001	1093	24595											
COPA	1314	broad.mit.edu	37	chr1	160275249	160275249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgacagcatatttgatgtgGttgcttgtggtatagataaa	11	15	12	3	0	0	3	0	2	0	1	0	3	0	3	0	2	2	4	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160275249G>A	ENST00000241704.7	-	17	1870	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N	COPA_ENST00000368069.3_Silent_p.N556N	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	547					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ATTTGATGTGGTTGCTTGTGG	0.428													A	160275249	G	A	160275249	2	1	364	1	0	0	0	0	0	0	0	1	3758	1252	44	2		2	COPA	1	160275249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13629	160275249	88975372	1094	24596											
COPA	1314	broad.mit.edu	37	chr1	160283846	160283846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggatcaactcttggcgaGggtggaagacggcacaagat	12	7	15	7	2	2	3	1	1	1	2	2	6	2	5	0	5	1	1	0	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160283846G>T	ENST00000241704.7	-	9	1005	c.776C>A	c.(775-777)cCt>cAt	p.P259H	COPA_ENST00000368069.3_Missense_Mutation_p.P259H	NM_001098398.1|NM_004371.3	NP_001091868.1|NP_004362.2	P53621	COPA_HUMAN	coatomer protein complex, subunit alpha	259					COPI coating of Golgi vesicle|intracellular protein transport|pancreatic juice secretion|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|extracellular space|microsome|soluble fraction	hormone activity|structural molecule activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	46	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTCTTGGCGAGGGTGGAAGAC	0.463													T	160283846	G	T	160283846	3	4	364	1	0	0	0	0	1	0	0	0	3758	1000	35	4	3025	4	COPA	1	160283846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8597	160283846	88966775	1095	24597											
NCSTN	23385	broad.mit.edu	37	chr1	160318821	160318821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacacaggggttatccacGtagtagagaaagaggaggac	15	5	15	6	1	0	3	0	0	0	3	1	7	1	5	1	4	0	3	1	4	4	3	rs12045198	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160318821G>A	ENST00000368063.1	+	4	443	c.163G>A	c.(163-165)Gta>Ata	p.V55I	NCSTN_ENST00000535857.1_Missense_Mutation_p.V75I|NCSTN_ENST00000392212.4_Missense_Mutation_p.V55I|NCSTN_ENST00000294785.5_Missense_Mutation_p.V75I			Q92542	NICA_HUMAN	nicastrin	75					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GGTTATCCACGTAGTAGAGAA	0.463													A	160318821	G	A	160318821	3	1	364	1	0	0	0	0	1	0	0	0	10317	1145	40	1	233	1	NCSTN	1	160318821	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34975	160318821	88931800	1096	24598											
NCSTN	23385	broad.mit.edu	37	chr1	160321854	160321854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtacctagctggatagtcGttcctttttctggaatgtgg	6	17	11	7	1	1	0	0	0	1	0	3	2	2	2	2	3	2	3	2	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160321854G>A	ENST00000368063.1	+	9	1074	c.794G>A	c.(793-795)cGt>cAt	p.R265H	NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368065.4_Missense_Mutation_p.R27H|NCSTN_ENST00000392212.4_Missense_Mutation_p.R265H|NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000294785.5_Missense_Mutation_p.R285H			Q92542	NICA_HUMAN	nicastrin	285					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGGATAGTCGTTCCTTTTTC	0.488													A	160321854	G	A	160321854	3	1	364	1	0	0	0	0	1	0	0	0	10317	1145	40	1	884	1	NCSTN	1	160321854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3033	160321854	88928767	1097	24599											
NCSTN	23385	broad.mit.edu	37	chr1	160326407	160326407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtgacgggcctcttcaaCattacatcgctgtctccagc	8	10	9	14	2	3	1	1	1	2	0	5	1	3	1	2	2	3	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160326407C>T	ENST00000368063.1	+	16	1877	c.1597C>T	c.(1597-1599)Cat>Tat	p.H533Y	NCSTN_ENST00000535857.1_Missense_Mutation_p.H415Y|NCSTN_ENST00000368065.4_Missense_Mutation_p.H295Y|NCSTN_ENST00000392212.4_Missense_Mutation_p.H533Y|NCSTN_ENST00000294785.5_Missense_Mutation_p.H553Y			Q92542	NICA_HUMAN	nicastrin	553					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCCTCTTCAACATTACATCGC	0.527													T	160326407	C	T	160326407	3	4	364	1	0	0	0	0	1	0	0	0	10317	478	17	2	1715	2	NCSTN	1	160326407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4553	160326407	88924214	1098	24600											
NHLH1	4807	broad.mit.edu	37	chr1	160340879	160340879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agattgagattctgcgcctgGccatctgctatatctcctac	8	13	8	12	1	3	2	0	1	3	2	4	3	3	2	3	1	3	1	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160340879G>A	ENST00000302101.5	+	2	804	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_005598.3	NP_005589.1	Q02575	HEN1_HUMAN	nescient helix loop helix 1	120	Helix-loop-helix motif.				cell differentiation|central nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7	all_cancers(52;7.11e-19)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			TCTGCGCCTGGCCATCTGCTA	0.622													A	160340879	G	A	160340879	3	1	364	1	0	0	0	0	1	0	0	0	10479	1203	42	2	360	2	NHLH1	1	160340879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14472	160340879	88909742	1099	24601											
SLAMF6	114836	broad.mit.edu	37	chr1	160460977	160460977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacagcattctctgctatgCaggtgtagtcctgttcactg	7	14	10	10	0	2	1	1	1	1	0	4	1	3	1	1	1	3	5	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160460977C>T	ENST00000368059.3	-	3	653	c.584G>A	c.(583-585)tGc>tAc	p.C195Y	SLAMF6_ENST00000368057.3_Missense_Mutation_p.C195Y|SLAMF6_ENST00000368055.1_Missense_Mutation_p.C84Y	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	195	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			CTCTGCTATGCAGGTGTAGTC	0.512													T	160460977	C	T	160460977	3	4	364	1	0	0	0	0	1	0	0	0	14462	710	25	2	438	2	SLAMF6	1	160460977	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120098	160460977	88789644	1100	24602											
SLAMF6	114836	broad.mit.edu	37	chr1	160461053	160461053	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgacttgaaagtgtgtttcCcaaggcctcccatctgaatg	9	12	9	11	0	1	3	0	3	1	0	3	3	3	3	3	1	0	1	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160461053C>A	ENST00000368059.3	-	3	577	c.508G>T	c.(508-510)Gga>Tga	p.G170*	SLAMF6_ENST00000368057.3_Nonsense_Mutation_p.G170*|SLAMF6_ENST00000368055.1_Nonsense_Mutation_p.G59*	NM_001184714.1|NM_001184715.1|NM_001184716.1|NM_052931.4	NP_001171643.1|NP_001171644.1|NP_001171645.1|NP_443163.1	Q96DU3	SLAF6_HUMAN	SLAM family member 6	170	Ig-like.					integral to membrane|plasma membrane	receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(4)	22	all_cancers(52;1.05e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0923)			AGTGTGTTTCCCAAGGCCTCC	0.483													A	160461053	C	A	160461053	4	1	364	1	0	0	0	0	0	1	0	0	14462	632	22	4	514	4	SLAMF6	1	160461053	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76	160461053	88789568	1101	24603											
SLAMF1	6504	broad.mit.edu	37	chr1	160604616	160604616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccttctccactgtgcagcCcagtatcaaggtgcaggtcc	7	9	9	16	0	2	0	1	0	1	0	4	0	3	0	5	2	3	3	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160604616C>A	ENST00000302035.6	-	3	836	c.487G>T	c.(487-489)Ggc>Tgc	p.G163C	SLAMF1_ENST00000235739.5_Missense_Mutation_p.G163C|SLAMF1_ENST00000355199.3_Missense_Mutation_p.G163C|SLAMF1_ENST00000538290.1_Missense_Mutation_p.G163C	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	163	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			ACTGTGCAGCCCAGTATCAAG	0.567													A	160604616	C	A	160604616	3	1	364	1	0	0	0	0	1	0	0	0	14461	623	22	4	540	4	SLAMF1	1	160604616	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143563	160604616	88646005	1102	24604											
LY9	4063	broad.mit.edu	37	chr1	160771667	160771667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcctggagtccatcatcaGcaccctggctgagccacgtg	7	7	12	15	2	2	1	2	1	0	0	3	2	3	2	4	3	2	2	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160771667G>A	ENST00000368039.2	+	3	543	c.542G>A	c.(541-543)aGc>aAc	p.S181N	LY9_ENST00000263285.6_Intron|LY9_ENST00000368037.5_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000471816.1_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Intron|LY9_ENST00000392203.4_Intron	NM_001033667.2	NP_001028839.1	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9	0	Ig-like C2-type 1.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCCATCATCAGCACCCTGGCT	0.642													A	160771667	G	A	160771667	3	1	364	1	0	0	0	0	1	0	0	0	9172	971	34	2	552	2	LY9	1	160771667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167051	160771667	88478954	1103	24605											
LY9	4063	broad.mit.edu	37	chr1	160786519	160786519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccccgctgcagaaggaagCtgttgtgtcccaaggggaat	10	7	14	10	1	0	1	0	0	0	1	1	4	1	3	3	3	2	4	3	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160786519C>T	ENST00000368037.5	+	5	1322	c.1208C>T	c.(1207-1209)gCt>gTt	p.A403V	LY9_ENST00000263285.6_Missense_Mutation_p.A403V|LY9_ENST00000341032.4_Intron|LY9_ENST00000368041.2_Intron|LY9_ENST00000368040.1_Missense_Mutation_p.A55V|LY9_ENST00000392203.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGAAGGAAGCTGTTGTGTCC	0.557													T	160786519	C	T	160786519	3	4	364	1	0	0	0	0	1	0	0	0	9172	797	28	2	1358	2	LY9	1	160786519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14852	160786519	88464102	1104	24606											
ITLN1	55600	broad.mit.edu	37	chr1	160854649	160854649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgctatgagaaacagcaGgaagctgagttggttcattg	11	10	14	6	1	1	2	1	2	0	1	2	4	1	3	0	3	3	5	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160854649G>T	ENST00000326245.3	-	2	134	c.19C>A	c.(19-21)Ctg>Atg	p.L7M		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	7					positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			AGAAACAGCAGGAAGCTGAGT	0.507													T	160854649	G	T	160854649	3	4	364	1	0	0	0	0	1	0	0	0	7968	991	35	4	950	4	ITLN1	1	160854649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68130	160854649	88395972	1105	24607											
F11R	50848	broad.mit.edu	37	chr1	160969502	160969502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagaatcagggttacaaGgacggctgccacgatgaccc	12	5	13	11	2	1	2	1	1	0	1	1	5	1	3	2	4	2	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:160969502G>T	ENST00000368026.6	-	7	1004	c.730C>A	c.(730-732)Ctt>Att	p.L244I	F11R_ENST00000537746.1_Missense_Mutation_p.L195I|F11R_ENST00000289779.3_3'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	244					blood coagulation|inflammatory response|interspecies interaction between organisms|leukocyte migration|tight junction assembly	integral to membrane|tight junction				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			AGGGTTACAAGGACGGCTGCC	0.532													T	160969502	G	T	160969502	3	4	364	1	0	0	0	0	1	0	0	0	5380	1000	35	4	185	4	F11R	1	160969502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114853	160969502	88281119	1106	24608											
USF1	7391	broad.mit.edu	37	chr1	161011486	161011486	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgcctctgagccctGggtagtaacaacagcagctg	10	7	12	12	0	1	1	0	1	1	0	1	1	1	1	2	1	7	5	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161011486G>A	ENST00000368021.3	-	6	631	c.427C>T	c.(427-429)Cag>Tag	p.Q143*	USF1_ENST00000368019.1_Intron|USF1_ENST00000435396.1_Nonsense_Mutation_p.Q84*|USF1_ENST00000368020.1_Nonsense_Mutation_p.Q143*	NM_007122.3	NP_009053.1	P22415	USF1_HUMAN	upstream transcription factor 1	143					cellular response to insulin stimulus|glucose homeostasis|late viral mRNA transcription|lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter by glucose|response to hypoxia|response to UV	transcription factor complex	bHLH transcription factor binding|histone deacetylase binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(52;6.73e-18)|Breast(13;0.012)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TCTGAGCCCTGGGTAGTAACA	0.587											OREG0013936	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	161011486	G	A	161011486	4	1	364	1	0	0	0	0	0	1	0	0	17134	1357	47	2	529	2	USF1	1	161011486	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41984	161011486	88239135	1107	24609											
ARHGAP30	257106	broad.mit.edu	37	chr1	161018566	161018567	+	Frame_Shift_Ins	INS	-	-	T																															tcctcttctctctcaatttcINStttttccttctcatctgtat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161018566_161018567insT	ENST00000368013.3	-	12	2564_2565	c.2244_2245insA	c.(2242-2247)aaagaafs	p.E749fs	ARHGAP30_ENST00000368016.3_Intron|ARHGAP30_ENST00000368015.1_Frame_Shift_Ins_p.E572fs	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	749	Glu-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			CTCTCAATTTCTTTTTCCTTCT	0.485													T	161018567	-	T	161018566	7	5	364	1	0	1	1	0	0	0	0	0	882	922	32	0	1064	0	ARHGAP30	1	161018566	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	7080	161018566	88232055	1108	24610											
PVRL4	81607	broad.mit.edu	37	chr1	161044518	161044518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaagtgtccccatccaCtcgtaccccactgggcagag	9	6	9	17	1	0	1	0	0	0	1	3	1	2	1	6	1	1	2	6	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161044518C>A	ENST00000368012.3	-	5	1185	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	PVRL4_ENST00000453926.2_Missense_Mutation_p.V29L	NM_030916.2	NP_112178.2	Q96NY8	PVRL4_HUMAN	poliovirus receptor-related 4	295	Ig-like C2-type 2.				adherens junction organization|cell adhesion|cell junction assembly	adherens junction|extracellular region|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|urinary_tract(1)	20	all_cancers(52;8.9e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			TCCCCATCCACTCGTACCCCA	0.602													A	161044518	C	A	161044518	3	1	364	1	0	0	0	0	1	0	0	0	12930	565	20	4	669	4	PVRL4	1	161044518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25952	161044518	88206103	1109	24611											
USP21	27005	broad.mit.edu	37	chr1	161130759	161130759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcggaccaacttagcccGttccaagtctgtgagcagtg	9	10	10	12	2	2	1	0	1	2	0	4	2	3	2	3	1	3	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161130759G>A	ENST00000368002.3	+	3	706	c.329G>A	c.(328-330)cGt>cAt	p.R110H	USP21_ENST00000368001.1_Missense_Mutation_p.R110H|USP21_ENST00000289865.8_Missense_Mutation_p.R110H	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	110					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			AACTTAGCCCGTTCCAAGTCT	0.642													A	161130759	G	A	161130759	3	1	364	1	0	0	0	0	1	0	0	0	17155	1145	40	1	331	1	USP21	1	161130759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86241	161130759	88119862	1110	24612											
USP21	27005	broad.mit.edu	37	chr1	161134625	161134625	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttaaccagggcttagAtctgaatcgattttctgcct	8	14	8	11	1	2	2	0	1	2	1	4	3	3	2	3	1	2	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161134625A>T	ENST00000368002.3	+	12	1762	c.1385A>T	c.(1384-1386)cAt>cTt	p.H462L	USP21_ENST00000493054.1_3'UTR|USP21_ENST00000368001.1_Splice_Site_p.H462L|USP21_ENST00000289865.8_Splice_Site_p.H462L	NM_001014443.2	NP_001014443.1	Q9UK80	UBP21_HUMAN	ubiquitin specific peptidase 21	462					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding|NEDD8-specific protease activity|protein binding|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|prostate(3)	29	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CAGGGCTTAGATCTGAATCGA	0.532													T	161134625	A	T	161134625	5	4	364	1	0	0	0	0	0	0	1	0	17155	347	12	5	1423	5	USP21	1	161134625	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3866	161134625	88115996	1111	24613											
NDUFS2	4720	broad.mit.edu	37	chr1	161179310	161179310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacgtttgttgaaccacatCatggctgtgaccacacatgc	11	10	8	12	1	1	2	1	2	0	0	1	2	1	2	2	1	2	3	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161179310C>T	ENST00000392179.4	+	5	791	c.552C>T	c.(550-552)atC>atT	p.I184I	NDUFS2_ENST00000367993.3_Silent_p.I184I|NDUFS2_ENST00000476409.2_Silent_p.I86I	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	184					mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		NADH(DB00157)	TGAACCACATCATGGCTGTGA	0.512											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	161179310	C	T	161179310	2	4	364	1	0	0	0	0	0	0	0	1	10368	816	29	2		2	NDUFS2	1	161179310	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44685	161179310	88071311	1112	24614											
MPZ	4359	broad.mit.edu	37	chr1	161275672	161275672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccgctaaccgctatttCttatccttgcgagactcccc	6	11	7	17	4	1	1	0	0	1	1	3	2	3	1	5	1	2	2	5	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161275672C>A	ENST00000533357.1	-	6	807	c.741G>T	c.(739-741)aaG>aaT	p.K247N	MPZ_ENST00000491222.2_Missense_Mutation_p.K51N|MPZ_ENST00000360451.6_Missense_Mutation_p.K257N|MPZ_ENST00000336559.4_Missense_Mutation_p.R247I|MPZ_ENST00000526189.1_5'UTR	NM_000530.6	NP_000521.2	P25189	MYP0_HUMAN	myelin protein zero	247					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592													A	161275672	C	A	161275672	3	1	364	1	0	0	0	0	1	0	0	0	9824	912	32	4	9	4	MPZ	1	161275672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96362	161275672	87974949	1113	24615											
SDHC	6391	broad.mit.edu	37	chr1	161326568	161326568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggccagcactgatccacAcagctaagtttgcacttgtc	9	10	10	12	0	0	1	0	1	0	0	2	1	1	1	2	2	3	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161326568A>G	ENST00000367975.2	+	5	492	c.343A>G	c.(343-345)Aca>Gca	p.T115A	SDHC_ENST00000513009.1_Intron|SDHC_ENST00000342751.4_Intron|SDHC_ENST00000432287.2_Missense_Mutation_p.T81A|SDHC_ENST00000392169.2_Missense_Mutation_p.T62A|SDHC_ENST00000470743.3_3'UTR	NM_003001.3	NP_002992.1	Q99643	C560_HUMAN	succinate dehydrogenase complex, subunit C, integral membrane protein, 15kDa	115					respiratory electron transport chain|transport|tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain complex II|plasma membrane succinate dehydrogenase complex	electron carrier activity|heme binding|succinate dehydrogenase activity			urinary_tract(1)	1	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Succinic acid(DB00139)	ACTGATCCACACAGCTAAGTT	0.473			"Mis, N, F"			"paraganglioma, pheochromocytoma"			Familial Paragangliomas;Carney-Stratakis syndrome				G	161326568	A	G	161326568	3	3	364	1	0	0	0	0	1	0	0	0	14059	159	6	3	361	3	SDHC	1	161326568	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	50896	161326568	87924053	1114	24616											
FCGR2A	2212	broad.mit.edu	37	chr1	161483700	161483700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccaattccactgatcCtgtgaaggctgcccaatttg	10	10	8	13	0	0	2	0	2	0	0	2	2	2	2	4	1	2	1	4	1	3	2	rs149146966		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161483700C>T	ENST00000271450.6	+	6	796	c.758C>T	c.(757-759)cCt>cTt	p.P253L	FCGR2A_ENST00000367972.4_Missense_Mutation_p.P252L|RP11-25K21.6_ENST00000537821.2_RNA	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	253						integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TCCACTGATCCTGTGAAGGCT	0.488													T	161483700	C	T	161483700	3	4	364	1	0	0	0	0	1	0	0	0	5830	681	24	2	780	2	FCGR2A	1	161483700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157132	161483700	87766921	1115	24617											
HSPA6	3310	broad.mit.edu	37	chr1	161495419	161495419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccggtggagaaggccctgcGggatgccaagctggacaagg	9	4	18	10	2	0	1	0	0	0	1	0	4	0	3	3	6	3	1	3	6	3	0	rs144281379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161495419G>A	ENST00000309758.4	+	1	1384	c.971G>A	c.(970-972)cGg>cAg	p.R324Q	RP11-25K21.6_ENST00000537821.2_RNA	NM_002155.3	NP_002146.2	P17066	HSP76_HUMAN	heat shock 70kDa protein 6 (HSP70B')	324					response to unfolded protein		ATP binding			endometrium(3)|large_intestine(5)|lung(9)|prostate(2)|skin(2)	21	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			AAGGCCCTGCGGGATGCCAAG	0.612													A	161495419	G	A	161495419	3	1	364	1	0	0	0	0	1	0	0	0	7472	1116	39	1	973	1	HSPA6	1	161495419	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11719	161495419	87755202	1116	24618											
FCGR3A	2214	broad.mit.edu	37	chr1	161518450	161518450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaggctccaggaacaccAcagcctttgggagatcttct	10	10	10	11	0	2	2	0	1	2	1	3	4	3	3	3	3	2	1	3	3	1	3	rs11804152		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161518450A>G	ENST00000367969.3	-	3	371	c.188T>C	c.(187-189)gTg>gCg	p.V63A	FCGR3A_ENST00000436743.1_Missense_Mutation_p.V27A|FCGR3A_ENST00000443193.1_Missense_Mutation_p.V62A|FCGR3A_ENST00000476031.1_5'UTR|RP11-25K21.6_ENST00000537821.2_RNA|FCGR3A_ENST00000540048.1_Missense_Mutation_p.V27A	NM_000569.6	NP_000560.5	P08637	FCG3A_HUMAN	Fc fragment of IgG, low affinity IIIa, receptor (CD16a)	27	Ig-like C2-type 1.				immune response|regulation of immune response	extracellular region|integral to membrane|plasma membrane	IgG binding|receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.567													G	161518450	A	G	161518450	3	3	364	1	0	0	0	0	1	0	0	0	5833	159	6	3	696	3	FCGR3A	1	161518450	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23031	161518450	87732171	1117	24619											
FCGR3B	2215	broad.mit.edu	37	chr1	161599807	161599807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaggctccaggaacaccAcagcctttgggagatcttct	10	10	10	11	0	2	2	0	1	2	1	3	4	3	3	3	3	2	1	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161599807A>G	ENST00000294800.3	-	3	353	c.80T>C	c.(79-81)gTg>gCg	p.V27A	FCGR2B_ENST00000367962.4_Intron|FCGR3B_ENST00000531221.1_Missense_Mutation_p.V63A|FCGR3B_ENST00000367964.2_Missense_Mutation_p.V27A|FCGR2B_ENST00000367960.5_Intron|FCGR3A_ENST00000540048.1_Intron|FCGR2B_ENST00000428605.2_Intron|FCGR2B_ENST00000403078.3_Intron	NM_001244753.1|NM_001271035.1	NP_001231682.1|NP_001257964.1	O75015	FCG3B_HUMAN	Fc fragment of IgG, low affinity IIIb, receptor (CD16b)	27					immune response	anchored to membrane|extracellular region|plasma membrane	IgG binding|receptor activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	18	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	CAGGAACACCACAGCCTTTGG	0.562													G	161599807	A	G	161599807	3	3	364	1	0	0	0	0	1	0	0	0	5834	159	6	3	633	3	FCGR3B	1	161599807	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81357	161599807	87650814	1118	24620											
FCRLA	84824	broad.mit.edu	37	chr1	161681736	161681736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcccagaactgtttccagCgccaattctcagagctgtac	9	12	7	13	1	1	2	1	0	1	2	4	2	3	2	3	0	4	3	3	0	3	4	rs140395904		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161681736C>T	ENST00000540926.1	+	5	823	c.530C>T	c.(529-531)gCg>gTg	p.A177V	FCRLA_ENST00000294796.4_Missense_Mutation_p.A37V|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000546024.1_Missense_Mutation_p.A99V|FCRLA_ENST00000367953.3_Missense_Mutation_p.A177V|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540521.1_Missense_Mutation_p.A54V|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000236938.6_Missense_Mutation_p.A188V|FCRLA_ENST00000367959.2_Missense_Mutation_p.A194V|FCRLA_ENST00000367957.2_Missense_Mutation_p.A48V|FCRLA_ENST00000309691.6_Missense_Mutation_p.A82V			Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			CTGTTTCCAGCGCCAATTCTC	0.522													T	161681736	C	T	161681736	3	4	364	1	0	0	0	0	1	0	0	0	5849	768	27	1	599	1	FCRLA	1	161681736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81929	161681736	87568885	1119	24621											
DUSP12	11266	broad.mit.edu	37	chr1	161723043	161723043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctttgttgggagtgatgGatggacaggtgagaacacat	10	11	15	5	0	0	2	0	2	0	1	0	6	0	5	0	4	2	2	0	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161723043G>T	ENST00000367943.4	+	5	885	c.853G>T	c.(853-855)Gat>Tat	p.D285Y		NM_007240.1	NP_009171.1	Q9UNI6	DUS12_HUMAN	dual specificity phosphatase 12	285					positive regulation of glucokinase activity	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|lung(1)	5	all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00634)			GGGAGTGATGGATGGACAGGT	0.358													T	161723043	G	T	161723043	3	4	364	1	0	0	0	0	1	0	0	0	4851	1174	41	4	871	4	DUSP12	1	161723043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41307	161723043	87527578	1120	24622											
ATF6	22926	broad.mit.edu	37	chr1	161753881	161753881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttattcttcaactcagcatGttcctgtgagtagccagtct	8	15	7	11	0	4	1	2	1	2	0	5	1	5	1	2	0	3	3	2	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161753881G>A	ENST00000367942.3	+	4	416	c.349G>A	c.(349-351)Gtt>Att	p.V117I		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	117	Transcription activation.				positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			AACTCAGCATGTTCCTGTGAG	0.388													A	161753881	G	A	161753881	3	1	364	1	0	0	0	0	1	0	0	0	1089	1377	48	2	363	2	ATF6	1	161753881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30838	161753881	87496740	1121	24623											
ATF6	22926	broad.mit.edu	37	chr1	161789436	161789436	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctagattgctgtgctaaGgagacagcaacgtatgataa	13	12	10	6	1	1	3	0	1	1	2	1	4	1	3	0	1	4	4	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161789436G>T	ENST00000367942.3	+	8	990	c.923G>T	c.(922-924)aGg>aTg	p.R308M		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	308					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			GCTGTGCTAAGGAGACAGCAA	0.343													T	161789436	G	T	161789436	3	4	364	1	0	0	0	0	1	0	0	0	1089	1000	35	4	953	4	ATF6	1	161789436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35555	161789436	87461185	1122	24624											
ATF6	22926	broad.mit.edu	37	chr1	161790922	161790922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgatgatagtattggcAtttataatactgaactatgg	12	16	10	3	0	0	3	0	3	0	0	0	3	0	3	0	2	2	2	0	2	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161790922A>G	ENST00000367942.3	+	9	1225	c.1158A>G	c.(1156-1158)gcA>gcG	p.A386A		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	386					positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			TAGTATTGGCATTTATAATAC	0.318													G	161790922	A	G	161790922	2	3	364	1	0	0	0	0	0	0	0	1	1089	204	8	3		3	ATF6	1	161790922	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1486	161790922	87459699	1123	24625											
OLFML2B	25903	broad.mit.edu	37	chr1	161967893	161967893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgggatctggagacaccGaggttgtttggagtgttggt	6	14	17	4	1	1	1	0	0	1	1	1	5	1	3	1	5	0	3	1	5	0	4	rs140535952	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:161967893G>A	ENST00000294794.3	-	6	1619	c.1196C>T	c.(1195-1197)tCg>tTg	p.S399L	OLFML2B_ENST00000367940.2_Missense_Mutation_p.S400L	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	399										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			TGGAGACACCGAGGTTGTTTG	0.627													A	161967893	G	A	161967893	3	1	364	1	0	0	0	0	1	0	0	0	10934	1059	37	1	1068	1	OLFML2B	1	161967893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176971	161967893	87282728	1124	24626											
NOS1AP	9722	broad.mit.edu	37	chr1	162270451	162270451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcagaaaaaggaatggaCgtgggatgagagcaagatgc	16	6	15	4	1	0	3	0	1	0	3	0	7	0	6	0	3	3	2	0	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162270451C>T	ENST00000361897.5	+	4	701	c.299C>T	c.(298-300)aCg>aTg	p.T100M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T95M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	100	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AAGGAATGGACGTGGGATGAG	0.498													T	162270451	C	T	162270451	3	4	364	1	0	0	0	0	1	0	0	0	10618	536	19	1	313	1	NOS1AP	1	162270451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	302558	162270451	86980170	1125	24627											
NOS1AP	9722	broad.mit.edu	37	chr1	162326911	162326911	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagacacaAgtggctgtggcccaggttct	10	6	13	12	0	1	1	0	0	1	1	1	1	1	1	1	3	4	6	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162326911A>G	ENST00000361897.5	+	8	1326	c.924A>G	c.(922-924)caA>caG	p.Q308Q	NOS1AP_ENST00000530878.1_Silent_p.Q303Q	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	308	Poly-Gln.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			AGCAGACACAAGTGGCTGTGG	0.632													G	162326911	A	G	162326911	2	3	364	1	0	0	0	0	0	0	0	1	10618	69	3	3		3	NOS1AP	1	162326911	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56460	162326911	86923710	1126	24628											
NOS1AP	9722	broad.mit.edu	37	chr1	162337149	162337149	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtacgagtccaacacggaCgagagcgaggagcgcgactc	12	3	15	11	6	0	1	0	0	0	1	2	8	1	3	1	2	4	1	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162337149C>T	ENST00000493151.1	+	2	2895	c.528C>T	c.(526-528)gaC>gaT	p.D176D	NOS1AP_ENST00000454693.1_3'UTR|NOS1AP_ENST00000361897.5_Silent_p.D471D|RP11-565P22.6_ENST00000431696.1_Intron|NOS1AP_ENST00000530878.1_Silent_p.D466D	NM_001126060.1	NP_001119532.2	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	471	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAACACGGACGAGAGCGAGG	0.667													T	162337149	C	T	162337149	2	4	364	1	0	0	0	0	0	0	0	1	10618	535	19	1		1	NOS1AP	1	162337149	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10238	162337149	86913472	1127	24629											
UHMK1	127933	broad.mit.edu	37	chr1	162470727	162470727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtatattcagacagacGggtatcgggctccagaagca	14	8	11	8	2	1	3	1	0	0	3	3	3	2	3	1	2	1	4	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162470727G>A	ENST00000489294.1	+	3	744	c.586G>A	c.(586-588)Ggg>Agg	p.G196R	UHMK1_ENST00000545294.1_Missense_Mutation_p.G122R|UHMK1_ENST00000282169.8_3'UTR|UHMK1_ENST00000538489.1_Missense_Mutation_p.G196R	NM_175866.4	NP_787062.1	Q8TAS1	UHMK1_HUMAN	U2AF homology motif (UHM) kinase 1	196	Protein kinase.				cell cycle arrest|neuron projection development|peptidyl-serine phosphorylation|positive regulation of translational initiation|protein autophosphorylation|regulation of protein export from nucleus	axon|dendrite cytoplasm|neuronal RNA granule|nucleus	protein binding|protein serine/threonine kinase activity|ribonucleoprotein binding|RNA binding			endometrium(1)|large_intestine(2)|lung(6)|prostate(2)	11	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCAGACAGACGGGTATCGGGC	0.423													A	162470727	G	A	162470727	3	1	364	1	0	0	0	0	1	0	0	0	17068	1116	39	1	646	1	UHMK1	1	162470727	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133578	162470727	86779894	1128	24630											
UAP1	6675	broad.mit.edu	37	chr1	162567644	162567644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcttatctcctatgctgGagaagtaagtctgctttact	8	16	7	10	0	3	1	0	0	3	1	5	2	4	1	2	1	3	3	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:162567644G>T	ENST00000271469.3	+	10	1774	c.1472G>T	c.(1471-1473)gGa>gTa	p.G491V	UAP1_ENST00000367924.1_Missense_Mutation_p.G490V|UAP1_ENST00000367925.1_Missense_Mutation_p.G491V|UAP1_ENST00000367926.4_Missense_Mutation_p.G474V			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	491					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TCCTATGCTGGAGAAGTAAGT	0.313													T	162567644	G	T	162567644	3	4	364	1	0	0	0	0	1	0	0	0	16927	1174	41	4	1451	4	UAP1	1	162567644	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96917	162567644	86682977	1129	24631											
NUF2	83540	broad.mit.edu	37	chr1	163310177	163310177	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctgcaagagggaaattcCcaaaagaagtcaaatatttc	16	9	9	7	0	1	2	1	0	0	2	3	3	2	3	1	1	2	2	1	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163310177C>A	ENST00000271452.3	+	9	909	c.630C>A	c.(628-630)tcC>tcA	p.S210S	NUF2_ENST00000367900.3_Silent_p.S210S|NUF2_ENST00000524800.1_Silent_p.S210S	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	210	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AGGGAAATTCCCAAAAGAAGT	0.323													A	163310177	C	A	163310177	2	1	364	1	0	0	0	0	0	0	0	1	10823	610	22	4		4	NUF2	1	163310177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	742533	163310177	85940444	1130	24632											
NUF2	83540	broad.mit.edu	37	chr1	163315595	163315595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatagggaaaaattagccaGtatcttaaaggaggtttgta	16	12	10	3	0	1	0	0	0	1	0	1	2	1	2	1	3	1	3	1	3	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163315595G>T	ENST00000271452.3	+	11	1214	c.935G>T	c.(934-936)aGt>aTt	p.S312I	NUF2_ENST00000367900.3_Missense_Mutation_p.S312I|NUF2_ENST00000524800.1_Intron	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	312	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					AAATTAGCCAGTATCTTAAAG	0.328													T	163315595	G	T	163315595	3	4	364	1	0	0	0	0	1	0	0	0	10823	1029	36	4	973	4	NUF2	1	163315595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5418	163315595	85935026	1131	24633											
NUF2	83540	broad.mit.edu	37	chr1	163317594	163317594	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgagagtgatgagtcagaActgaagaaattgaagactga	17	9	12	3	0	1	9	1	6	0	4	1	10	1	9	0	0	1	0	0	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:163317594A>C	ENST00000271452.3	+	12	1269	c.990A>C	c.(988-990)gaA>gaC	p.E330D	NUF2_ENST00000367900.3_Missense_Mutation_p.E330D|NUF2_ENST00000524800.1_Missense_Mutation_p.E283D	NM_145697.2	NP_663735.2	Q9BZD4	NUF2_HUMAN	NUF2, NDC80 kinetochore complex component	330	Interaction with the N-terminus of NDC80.				cell division|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(15)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	all_hematologic(923;0.101)					ATGAGTCAGAACTGAAGAAAT	0.318													C	163317594	A	C	163317594	3	2	364	1	0	0	0	0	1	0	0	0	10823	40	2	5	1032	5	NUF2	1	163317594	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1999	163317594	85933027	1132	24634											
ALDH9A1	223	broad.mit.edu	37	chr1	165638676	165638676	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaaatactcttgtgccAttacagcaaacctaaaggac	15	9	6	11	0	1	0	0	0	1	0	1	1	1	1	2	1	6	2	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:165638676A>G	ENST00000354775.4	-	7	1246	c.942T>C	c.(940-942)aaT>aaC	p.N314N	ALDH9A1_ENST00000538148.1_Silent_p.N220N	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1	290					carnitine biosynthetic process|cellular aldehyde metabolic process|hormone metabolic process|neurotransmitter biosynthetic process	cytosol|plasma membrane	3-chloroallyl aldehyde dehydrogenase activity|4-trimethylammoniobutyraldehyde dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|aminobutyraldehyde dehydrogenase activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				NADH(DB00157)	CTCTTGTGCCATTACAGCAAA	0.348													G	165638676	A	G	165638676	2	3	364	1	0	0	0	0	0	0	0	1	506	214	8	3		3	ALDH9A1	1	165638676	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2321082	165638676	83611945	1133	24635											
MAEL	84944	broad.mit.edu	37	chr1	166958631	166958631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaatgcttactatttcttCgtgcaggagaagatccccga	10	11	10	10	3	1	2	0	0	1	2	3	5	2	3	2	2	3	2	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:166958631C>T	ENST00000367872.4	+	1	286	c.42C>T	c.(40-42)ttC>ttT	p.F14F	MAEL_ENST00000367870.2_Silent_p.F14F	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	14					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						ACTATTTCTTCGTGCAGGAGA	0.617													T	166958631	C	T	166958631	2	4	364	1	0	0	0	0	0	0	0	1	9225	883	31	1		1	MAEL	1	166958631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1319955	166958631	82291990	1134	24636											
POU2F1	5451	broad.mit.edu	37	chr1	167365661	167365661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagaagtggctaaatgatGcaggtaagtgactgtataag	15	10	13	3	0	0	3	0	2	0	1	0	4	0	3	0	2	1	4	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167365661G>A	ENST00000367862.5	+	10	1328	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	POU2F1_ENST00000420254.3_Missense_Mutation_p.A353T|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.A313T|POU2F1_ENST00000367866.2_Missense_Mutation_p.A376T|POU2F1_ENST00000541643.3_Missense_Mutation_p.A353T	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	353					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						GCTAAATGATGCAGGTAAGTG	0.353													A	167365661	G	A	167365661	3	1	364	1	0	0	0	0	1	0	0	0	12348	1319	46	2	1091	2	POU2F1	1	167365661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	407030	167365661	81884960	1135	24637											
RCSD1	92241	broad.mit.edu	37	chr1	167666427	167666427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttggagatttcagggCggtggagtcatctcagcaga	11	9	14	7	1	3	3	3	0	1	3	4	5	3	4	0	4	2	1	0	4	1	2	rs148941543		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167666427C>T	ENST00000367854.3	+	6	897	c.566C>T	c.(565-567)gCg>gTg	p.A189V	RCSD1_ENST00000537350.1_Missense_Mutation_p.A159V	NM_052862.3	NP_443094.3	Q6JBY9	CPZIP_HUMAN	RCSD domain containing 1	189										NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	24	all_hematologic(923;0.215)					GATTTCAGGGCGGTGGAGTCA	0.557													T	167666427	C	T	167666427	3	4	364	1	0	0	0	0	1	0	0	0	13273	768	27	1	588	1	RCSD1	1	167666427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300766	167666427	81584194	1136	24638											
MPZL1	9019	broad.mit.edu	37	chr1	167757089	167757089	+	Silent	SNP	C	C	T																															tatgcacagttagaccactcCggcggacatcacagtgacaa																								rs139028868	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757089C>T	ENST00000359523.2	+	6	943	c.741C>T	c.(739-741)tcC>tcT	p.S247S	MPZL1_ENST00000392121.3_Silent_p.S97S|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	247					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					TAGACCACTCCGGCGGACATC	0.463													T	167757089	C	T	167757089	2	4	364	1	0	0	0	0	0	0	0	1	9825	639	23	1		1	MPZL1	1	167757089	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90662	167757089	81493532	1137	24639	43	2									
MPZL1	9019	broad.mit.edu	37	chr1	167757092	167757092	+	Silent	SNP	C	C	T																															gcacagttagaccactccggCggacatcacagtgacaagat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167757092C>T	ENST00000359523.2	+	6	946	c.744C>T	c.(742-744)ggC>ggT	p.G248G	MPZL1_ENST00000392121.3_Silent_p.G98G|MPZL1_ENST00000403379.3_3'UTR	NM_003953.5|NM_024569.4	NP_003944.1|NP_078845.3	O95297	MPZL1_HUMAN	myelin protein zero-like 1	248					cell-cell signaling|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	protein binding|structural molecule activity	p.G248G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(2)	15	all_hematologic(923;0.215)					ACCACTCCGGCGGACATCACA	0.463													T	167757092	C	T	167757092	2	4	364	1	0	0	0	0	0	0	0	1	9825	755	27	1		1	MPZL1	1	167757092	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	167757092	81493529	1138	24640	43	2									
ADCY10	55811	broad.mit.edu	37	chr1	167778997	167778997	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttaccctgcctgctacaAttttttcccatgatgggaga	8	15	8	10	0	0	2	0	1	0	1	1	3	1	2	3	1	4	2	3	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167778997A>C	ENST00000367848.1	-	33	4972	c.4475T>G	c.(4474-4476)aTt>aGt	p.I1492S	ADCY10_ENST00000367851.4_Missense_Mutation_p.I1584S|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1431S			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1584					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GCCTGCTACAATTTTTTCCCA	0.388													C	167778997	A	C	167778997	3	2	364	1	0	0	0	0	1	0	0	0	293	101	4	5	85	5	ADCY10	1	167778997	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21905	167778997	81471624	1139	24641											
ADCY10	55811	broad.mit.edu	37	chr1	167825527	167825527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctttattacggccctggCagctgcacagggaatgttaa	9	12	11	9	1	1	0	0	0	1	0	1	1	1	1	1	3	3	5	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167825527C>T	ENST00000367848.1	-	17	2268	c.1771G>A	c.(1771-1773)Gcc>Acc	p.A591T	ADCY10_ENST00000367851.4_Missense_Mutation_p.A683T|ADCY10_ENST00000545172.1_Missense_Mutation_p.A530T			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	683					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACGGCCCTGGCAGCTGCACAG	0.473													T	167825527	C	T	167825527	3	4	364	1	0	0	0	0	1	0	0	0	293	710	25	2	2853	2	ADCY10	1	167825527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46530	167825527	81425094	1140	24642											
ADCY10	55811	broad.mit.edu	37	chr1	167830117	167830117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagctagttacctgaacatGgaaaatgtcattaagaagac	16	10	8	7	0	1	3	1	1	0	2	1	4	1	4	1	1	3	2	1	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167830117G>T	ENST00000367848.1	-	15	2022	c.1525C>A	c.(1525-1527)Cat>Aat	p.H509N	ADCY10_ENST00000367851.4_Missense_Mutation_p.H601N|ADCY10_ENST00000545172.1_Missense_Mutation_p.H448N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	601					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTGAACATGGAAAATGTCA	0.398													T	167830117	G	T	167830117	3	4	364	1	0	0	0	0	1	0	0	0	293	1348	47	4	3107	4	ADCY10	1	167830117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4590	167830117	81420504	1141	24643											
ADCY10	55811	broad.mit.edu	37	chr1	167847744	167847744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgcaacacctttcataActttctttggaagctcttta	11	16	4	10	0	4	0	1	0	3	0	4	1	4	1	1	1	4	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167847744A>C	ENST00000367848.1	-	12	1567	c.1070T>G	c.(1069-1071)gTt>gGt	p.V357G	ADCY10_ENST00000367851.4_Missense_Mutation_p.V449G|ADCY10_ENST00000545172.1_Missense_Mutation_p.V296G			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	449	Guanylate cyclase 2.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ACCTTTCATAACTTTCTTTGG	0.408													C	167847744	A	C	167847744	3	2	364	1	0	0	0	0	1	0	0	0	293	43	2	5	3574	5	ADCY10	1	167847744	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17627	167847744	81402877	1142	24644											
ADCY10	55811	broad.mit.edu	37	chr1	167865875	167865875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgcatgaaggtcgtacActttgtgaaaaattcatcaa	16	12	7	6	1	2	2	2	2	0	0	3	2	2	2	0	1	2	2	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167865875A>G	ENST00000367848.1	-	7	918	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R	ADCY10_ENST00000367851.4_Missense_Mutation_p.C233R|ADCY10_ENST00000545172.1_Missense_Mutation_p.C80R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	233	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGTCGTACACTTTGTGAAA	0.363													G	167865875	A	G	167865875	3	3	364	1	0	0	0	0	1	0	0	0	293	159	6	3	4243	3	ADCY10	1	167865875	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18131	167865875	81384746	1143	24645											
DCAF6	55827	broad.mit.edu	37	chr1	167962634	167962634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgacccgaaagatgatacaGcacgagaacttaaaactcct	16	8	7	10	2	0	4	0	2	0	2	1	6	1	4	2	0	4	1	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:167962634G>A	ENST00000367840.3	+	7	953	c.859G>A	c.(859-861)Gca>Aca	p.A287T	DCAF6_ENST00000367843.3_Missense_Mutation_p.A287T|DCAF6_ENST00000312263.6_Missense_Mutation_p.A287T|DCAF6_ENST00000432587.2_Missense_Mutation_p.A256T	NM_001198956.1	NP_001185885.1	Q58WW2	DCAF6_HUMAN	DDB1 and CUL4 associated factor 6	287					positive regulation of transcription from RNA polymerase II promoter	CUL4 RING ubiquitin ligase complex|nucleus	ligand-dependent nuclear receptor transcription coactivator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	36						AGATGATACAGCACGAGAACT	0.448													A	167962634	G	A	167962634	3	1	364	1	0	0	0	0	1	0	0	0	4308	971	34	2	885	2	DCAF6	1	167962634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96759	167962634	81287987	1144	24646											
GPR161	23432	broad.mit.edu	37	chr1	168054973	168054973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttggccaagcttgctgcGtaactgtccaaggacttgtg	7	12	12	10	1	0	0	0	0	0	0	1	1	1	1	2	2	4	4	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168054973G>A	ENST00000367838.1	-	8	1699	c.1386C>T	c.(1384-1386)taC>taT	p.Y462Y	GPR161_ENST00000367836.1_Silent_p.Y330Y|GPR161_ENST00000271357.5_Silent_p.Y462Y|GPR161_ENST00000537209.1_Silent_p.Y482Y|GPR161_ENST00000361697.2_Silent_p.Y462Y|GPR161_ENST00000539777.1_Silent_p.Y384Y|GPR161_ENST00000546300.1_Silent_p.Y348Y|GPR161_ENST00000367835.1_Silent_p.Y462Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	462					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					AGCTTGCTGCGTAACTGTCCA	0.512													A	168054973	G	A	168054973	2	1	364	1	0	0	0	0	0	0	0	1	6719	1140	40	1		1	GPR161	1	168054973	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92339	168054973	81195648	1145	24647											
GPR161	23432	broad.mit.edu	37	chr1	168065970	168065970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccccagagggcctcaGaggcgatgacaaccatgtag	10	8	11	12	1	1	3	1	1	0	2	2	4	2	3	4	2	1	1	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168065970G>T	ENST00000367838.1	-	5	1188	c.875C>A	c.(874-876)tCt>tAt	p.S292Y	GPR161_ENST00000367836.1_Missense_Mutation_p.S160Y|GPR161_ENST00000271357.5_Missense_Mutation_p.S292Y|GPR161_ENST00000537209.1_Missense_Mutation_p.S312Y|GPR161_ENST00000361697.2_Missense_Mutation_p.S292Y|GPR161_ENST00000539777.1_Missense_Mutation_p.S214Y|GPR161_ENST00000546300.1_Missense_Mutation_p.S178Y|GPR161_ENST00000367835.1_Missense_Mutation_p.S292Y	NM_001267611.1|NM_153832.2	NP_001254540.1|NP_722561.1	Q8N6U8	GP161_HUMAN	G protein-coupled receptor 161	292					multicellular organismal development	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	all_hematologic(923;0.215)					GAGGGCCTCAGAGGCGATGAC	0.617													T	168065970	G	T	168065970	3	4	364	1	0	0	0	0	1	0	0	0	6719	942	33	4	730	4	GPR161	1	168065970	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10997	168065970	81184651	1146	24648											
TIPRL	261726	broad.mit.edu	37	chr1	168160619	168160619	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttcaggttgtacctacaAcagatcatatagatacagaa	15	12	6	8	0	3	3	2	0	1	3	3	3	3	3	1	1	4	2	1	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:168160619A>C	ENST00000367833.2	+	4	542	c.397A>C	c.(397-399)Aca>Cca	p.T133P	TIPRL_ENST00000367830.3_Missense_Mutation_p.T133P	NM_152902.3	NP_690866.1	O75663	TIPRL_HUMAN	TIP41, TOR signaling pathway regulator-like (S. cerevisiae)	133					DNA damage checkpoint|negative regulation of protein phosphatase type 2A activity	cytoplasm	protein binding			breast(1)|kidney(1)|large_intestine(1)|ovary(2)|skin(1)	6	all_hematologic(923;0.215)					TGTACCTACAACAGATCATAT	0.328													C	168160619	A	C	168160619	3	2	364	1	0	0	0	0	1	0	0	0	16026	43	2	5	411	5	TIPRL	1	168160619	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94649	168160619	81090002	1147	24649											
SLC19A2	10560	broad.mit.edu	37	chr1	169439274	169439274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcatcactttctcccAcaggccctgtgtgtagttca	9	11	9	12	0	3	1	2	0	1	1	4	1	3	1	2	2	0	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169439274A>G	ENST00000236137.5	-	3	1194	c.958T>C	c.(958-960)Tgg>Cgg	p.W320R	SLC19A2_ENST00000367804.4_Missense_Mutation_p.W119R	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	320					thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)					ACTTTCTCCCACAGGCCCTGT	0.522													G	169439274	A	G	169439274	3	3	364	1	0	0	0	0	1	0	0	0	14523	159	6	3	551	3	SLC19A2	1	169439274	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1278655	169439274	79811347	1148	24650											
F5	2153	broad.mit.edu	37	chr1	169495202	169495202	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttctccaacctctgtgtTtaggagccaccagccaggtt	7	13	9	12	0	2	0	0	0	2	0	3	1	2	1	5	2	3	3	5	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169495202T>G	ENST00000367796.3	-	18	5869	c.5668A>C	c.(5668-5670)Aac>Cac	p.N1890H	F5_ENST00000367797.3_Missense_Mutation_p.N1885H			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	1885	F5/8 type A 3.|Plastocyanin-like 6.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	ACCTCTGTGTTTAGGAGCCAC	0.383													G	169495202	T	G	169495202	3	3	364	1	0	0	0	0	1	0	0	0	5390	1841	64	5	1053	5	F5	1	169495202	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55928	169495202	79755419	1149	24651											
F5	2153	broad.mit.edu	37	chr1	169512306	169512306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgaatttcagcctcagCtttttgcttcttggactaga	7	16	7	11	0	3	2	2	1	1	1	4	3	4	3	2	1	3	2	2	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169512306C>A	ENST00000367796.3	-	13	2238	c.2037G>T	c.(2035-2037)aaG>aaT	p.K679N	F5_ENST00000367797.3_Missense_Mutation_p.K674N			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	674	F5/8 type A 2.|Plastocyanin-like 4.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TCAGCCTCAGCTTTTTGCTTC	0.408													A	169512306	C	A	169512306	3	1	364	1	0	0	0	0	1	0	0	0	5390	796	28	4	4704	4	F5	1	169512306	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17104	169512306	79738315	1150	24652											
SELP	6403	broad.mit.edu	37	chr1	169565263	169565263	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgttgcagccaaagtaacaAgtggtattaaaaccaaaggt	16	8	10	7	1	0	0	0	0	0	0	0	0	0	0	2	2	4	4	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169565263A>C	ENST00000263686.6	-	12	2038	c.2001T>G	c.(1999-2001)acT>acG	p.T667T	SELP_ENST00000367791.2_Silent_p.T481T|SELP_ENST00000458599.2_Silent_p.T483T|SELP_ENST00000367792.2_Silent_p.T483T|SELP_ENST00000367786.2_Silent_p.T605T|SELP_ENST00000367793.2_Silent_p.T605T|SELP_ENST00000367788.2_Silent_p.T605T|SELP_ENST00000367794.2_Silent_p.T605T	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	667	Sushi 8.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	CAAAGTAACAAGTGGTATTAA	0.522													C	169565263	A	C	169565263	2	2	364	1	0	0	0	0	0	0	0	1	14112	59	3	5		5	SELP	1	169565263	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52957	169565263	79685358	1151	24653											
SELP	6403	broad.mit.edu	37	chr1	169582345	169582345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagctcaagttctccacaCtctctcactgcaggagacaa	11	8	9	13	0	4	1	2	0	2	1	6	3	4	2	1	2	2	3	1	2	2	1	rs145985654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169582345C>A	ENST00000263686.6	-	5	634	c.597G>T	c.(595-597)gaG>gaT	p.E199D	SELP_ENST00000367791.2_Missense_Mutation_p.E199D|SELP_ENST00000458599.2_Missense_Mutation_p.E199D|SELP_ENST00000367792.2_Missense_Mutation_p.E199D|SELP_ENST00000367786.2_Missense_Mutation_p.E199D|SELP_ENST00000367793.2_Missense_Mutation_p.E199D|SELP_ENST00000367788.2_Missense_Mutation_p.E199D|SELP_ENST00000367794.2_Missense_Mutation_p.E199D	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	199	Sushi 1.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	GTTCTCCACACTCTCTCACTG	0.443													A	169582345	C	A	169582345	3	1	364	1	0	0	0	0	1	0	0	0	14112	564	20	4	1943	4	SELP	1	169582345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17082	169582345	79668276	1152	24654											
SELE	6401	broad.mit.edu	37	chr1	169698503	169698503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaggctggcggacggccCtgcatgtcacagctgtaaca	8	8	13	12	2	2	1	1	1	1	0	2	2	2	2	1	4	3	4	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169698503C>T	ENST00000333360.7	-	7	1053	c.914G>A	c.(913-915)aGg>aAg	p.R305K	SELE_ENST00000367777.1_Missense_Mutation_p.R305K|SELE_ENST00000367775.1_Missense_Mutation_p.R243K|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.R243K|SELE_ENST00000367774.1_Missense_Mutation_p.R305K|SELE_ENST00000367779.4_Missense_Mutation_p.R305K|SELE_ENST00000367776.1_Missense_Mutation_p.R305K|SELE_ENST00000367782.4_Missense_Mutation_p.R305K|SELE_ENST00000367781.4_Missense_Mutation_p.R305K	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	305	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					GCGGACGGCCCTGCATGTCAC	0.498													T	169698503	C	T	169698503	3	4	364	1	0	0	0	0	1	0	0	0	14106	681	24	2	946	2	SELE	1	169698503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116158	169698503	79552118	1153	24655											
C1orf112	55732	broad.mit.edu	37	chr1	169773305	169773305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctattctcttcaaaagcaGttaatggaactgctggacat	12	12	8	9	0	2	0	1	0	1	0	3	2	2	2	1	2	3	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169773305G>A	ENST00000286031.6	+	6	1102	c.402G>A	c.(400-402)caG>caA	p.Q134Q	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Silent_p.Q134Q|C1orf112_ENST00000413811.2_Silent_p.Q105Q|C1orf112_ENST00000456684.1_Silent_p.Q192Q	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	134										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TTCAAAAGCAGTTAATGGAAC	0.393													A	169773305	G	A	169773305	2	1	364	1	0	0	0	0	0	0	0	1	2005	1020	36	2		2	C1orf112	1	169773305	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74802	169773305	79477316	1154	24656											
C1orf112	55732	broad.mit.edu	37	chr1	169777011	169777011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcttgtgtgaagacattCttttctccttccattcttgt	6	19	6	10	0	3	2	0	1	3	1	5	2	4	2	2	0	1	1	2	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169777011C>A	ENST00000286031.6	+	8	1343	c.643C>A	c.(643-645)Ctt>Att	p.L215I	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.L215I|C1orf112_ENST00000413811.2_Missense_Mutation_p.L186I|C1orf112_ENST00000456684.1_Missense_Mutation_p.L273I	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	215										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGAAGACATTCTTTTCTCCTT	0.353													A	169777011	C	A	169777011	3	1	364	1	0	0	0	0	1	0	0	0	2005	913	32	4	665	4	C1orf112	1	169777011	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3706	169777011	79473610	1155	24657											
C1orf112	55732	broad.mit.edu	37	chr1	169806110	169806110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaaagaagcagaaaatCtgcctctgtggcaacatatt	15	8	7	11	0	2	2	0	0	2	2	2	2	2	2	3	1	3	2	3	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169806110C>A	ENST00000286031.6	+	17	2282	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	C1orf112_ENST00000498289.1_3'UTR|C1orf112_ENST00000359326.4_Missense_Mutation_p.L528M	NM_018186.2	NP_060656.2	Q9NSG2	CA112_HUMAN	chromosome 1 open reading frame 112	528										breast(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|stomach(1)	34	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGCAGAAAATCTGCCTCTGTG	0.428													A	169806110	C	A	169806110	3	1	364	1	0	0	0	0	1	0	0	0	2005	912	32	4	1640	4	C1orf112	1	169806110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29099	169806110	79444511	1156	24658											
SCYL3	57147	broad.mit.edu	37	chr1	169831808	169831808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtgctccacgtaggcCtcgatgtgagacagcagcac	10	7	13	11	2	0	2	0	2	0	1	2	4	1	2	2	1	3	4	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:169831808C>A	ENST00000367771.6	-	10	1300	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	SCYL3_ENST00000367770.1_Missense_Mutation_p.E362D|SCYL3_ENST00000367772.4_Missense_Mutation_p.E362D|SCYL3_ENST00000470238.1_5'UTR	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CCACGTAGGCCTCGATGTGAG	0.542													A	169831808	C	A	169831808	3	1	364	1	0	0	0	0	1	0	0	0	14042	680	24	4	1162	4	SCYL3	1	169831808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25698	169831808	79418813	1157	24659											
GORAB	92344	broad.mit.edu	37	chr1	170511715	170511715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtaaaaaagctcttttggCtaaagctattgcagaaaggt	15	11	9	6	1	1	1	0	0	1	1	1	1	1	1	0	2	3	5	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170511715C>A	ENST00000367763.3	+	3	598	c.578C>A	c.(577-579)gCt>gAt	p.A193D	GORAB_ENST00000367762.1_Missense_Mutation_p.A193D	NM_152281.2	NP_689494.2	Q5T7V8	GORAB_HUMAN	golgin, RAB6-interacting	193						Golgi apparatus|nucleus				endometrium(2)|large_intestine(3)|liver(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	17						GCTCTTTTGGCTAAAGCTATT	0.413													A	170511715	C	A	170511715	3	1	364	1	0	0	0	0	1	0	0	0	6627	797	28	4	588	4	GORAB	1	170511715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	679907	170511715	78738906	1158	24660											
PRRX1	5396	broad.mit.edu	37	chr1	170695481	170695481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgtggagcagcccatcGtacctcgtcctgctccgaga	6	9	11	15	3	0	1	0	0	0	1	4	3	2	2	4	1	5	4	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:170695481G>A	ENST00000239461.6	+	3	851	c.538G>A	c.(538-540)Gta>Ata	p.V180I	PRRX1_ENST00000476867.2_3'UTR|PRRX1_ENST00000367760.3_Missense_Mutation_p.V180I|PRRX1_ENST00000497230.2_Missense_Mutation_p.V180I	NM_022716.2	NP_073207.1	P54821	PRRX1_HUMAN	paired related homeobox 1	180						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.V180I(1)		large_intestine(2)|ovary(1)	3	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GCAGCCCATCGTACCTCGTCC	0.562													A	170695481	G	A	170695481	3	1	364	1	0	0	0	0	1	0	0	0	12697	1145	40	1	548	1	PRRX1	1	170695481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183766	170695481	78555140	1159	24661											
FMO3	2328	broad.mit.edu	37	chr1	171080085	171080085	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgactggttgtacgtgaaGcagatgaatgcaagattcaa	13	11	11	6	1	2	5	1	3	1	2	2	5	2	5	0	1	3	4	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171080085G>T	ENST00000367755.4	+	6	885	c.774G>T	c.(772-774)aaG>aaT	p.K258N	FMO3_ENST00000538429.1_Missense_Mutation_p.K195N|FMO3_ENST00000542847.1_Missense_Mutation_p.K238N|FMO3_ENST00000392085.2_Missense_Mutation_p.K258N	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	258					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TGTACGTGAAGCAGATGAATG	0.448													T	171080085	G	T	171080085	3	4	364	1	0	0	0	0	1	0	0	0	6005	962	34	4	792	4	FMO3	1	171080085	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	384604	171080085	78170536	1160	24662											
FMO3	2328	broad.mit.edu	37	chr1	171086349	171086349	+	Missense_Mutation	SNP	A	A	G																															ggctgtttctcacagatcccAaattggccatggaagtttat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086349A>G	ENST00000367755.4	+	9	1477	c.1366A>G	c.(1366-1368)Aaa>Gaa	p.K456E	FMO3_ENST00000538429.1_Missense_Mutation_p.K393E|FMO3_ENST00000542847.1_Missense_Mutation_p.K436E|FMO3_ENST00000392085.2_Missense_Mutation_p.K456E	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CACAGATCCCAAATTGGCCAT	0.498													G	171086349	A	G	171086349	3	3	364	1	0	0	0	0	1	0	0	0	6005	131	5	3	1396	3	FMO3	1	171086349	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6264	171086349	78164272	1161	24663	44	2									
FMO3	2328	broad.mit.edu	37	chr1	171086350	171086350	+	Missense_Mutation	SNP	A	A	C																															gctgtttctcacagatcccaAattggccatggaagtttatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171086350A>C	ENST00000367755.4	+	9	1478	c.1367A>C	c.(1366-1368)aAa>aCa	p.K456T	FMO3_ENST00000538429.1_Missense_Mutation_p.K393T|FMO3_ENST00000542847.1_Missense_Mutation_p.K436T|FMO3_ENST00000392085.2_Missense_Mutation_p.K456T	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	456					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ACAGATCCCAAATTGGCCATG	0.502													C	171086350	A	C	171086350	3	2	364	1	0	0	0	0	1	0	0	0	6005	14	1	5	1397	5	FMO3	1	171086350	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1	171086350	78164271	1162	24664	44	2									
FMO2	2327	broad.mit.edu	37	chr1	171173168	171173168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacagatgaatcggtggttCaaccatgaaaattatggcct	14	10	9	8	1	1	3	1	2	0	1	2	3	1	3	2	3	2	1	2	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171173168C>T	ENST00000441535.1	+	6	909	c.792C>T	c.(790-792)ttC>ttT	p.F264F	RP1-127D3.4_ENST00000445290.1_RNA|FMO2_ENST00000209929.7_Silent_p.F264F|RP1-127D3.4_ENST00000445909.1_RNA|FMO2_ENST00000529935.1_3'UTR|RP1-127D3.4_ENST00000422841.1_RNA	NM_001460.2	NP_001451.1	Q99518	FMO2_HUMAN	flavin containing monooxygenase 2 (non-functional)	264					drug metabolic process|NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|host cell microsome|integral to membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	22	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCGGTGGTTCAACCATGAAA	0.433													T	171173168	C	T	171173168	2	4	364	1	0	0	0	0	0	0	0	1	6004	825	29	2		2	FMO2	1	171173168	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86818	171173168	78077453	1163	24665											
FMO1	2326	broad.mit.edu	37	chr1	171251226	171251226	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaggaaaactctgtcataTttaacaatacttcaaaggaa	19	11	5	6	0	3	0	2	0	1	0	3	2	3	2	0	2	3	0	0	2	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251226T>G	ENST00000354841.4	+	6	1068	c.937T>G	c.(937-939)Ttt>Gtt	p.F313V	FMO1_ENST00000367750.3_Missense_Mutation_p.F313V|FMO1_ENST00000402921.2_Missense_Mutation_p.F250V|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	313					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTCTGTCATATTTAACAATAC	0.408													G	171251226	T	G	171251226	3	3	364	1	0	0	0	0	1	0	0	0	6003	1493	52	5	959	5	FMO1	1	171251226	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	78058	171251226	77999395	1164	24666											
FMO1	2326	broad.mit.edu	37	chr1	171251411	171251411	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attattggcctcatcaaaccCttgggctccatgatacctac	10	12	6	13	0	2	1	2	1	0	0	3	1	3	1	4	2	3	1	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171251411C>T	ENST00000354841.4	+	6	1253	c.1122C>T	c.(1120-1122)ccC>ccT	p.P374P	FMO1_ENST00000367750.3_Silent_p.P374P|FMO1_ENST00000402921.2_Silent_p.P311P|FMO1_ENST00000469112.1_3'UTR	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	374					NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TCATCAAACCCTTGGGCTCCA	0.478													T	171251411	C	T	171251411	2	4	364	1	0	0	0	0	0	0	0	1	6003	668	24	2		2	FMO1	1	171251411	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	171251411	77999210	1165	24667											
FMO4	2329	broad.mit.edu	37	chr1	171303741	171303741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccattttttgaagaacCtcttaaaagcctctgtacaa	12	16	4	9	0	2	2	0	1	2	1	3	2	3	2	3	0	3	1	3	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171303741C>A	ENST00000367749.3	+	8	1349	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	340					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TTTGAAGAACCTCTTAAAAGC	0.388													A	171303741	C	A	171303741	3	1	364	1	0	0	0	0	1	0	0	0	6006	681	24	4	1041	4	FMO4	1	171303741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52330	171303741	77946880	1166	24668											
FMO4	2329	broad.mit.edu	37	chr1	171310771	171310771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatgccatcctgacccagtgGgacagaacattgaaaccttt	13	9	8	11	0	0	3	0	2	0	1	1	4	1	4	4	1	3	0	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171310771G>T	ENST00000367749.3	+	10	1800	c.1470G>T	c.(1468-1470)tgG>tgT	p.W490C		NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	490					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGACCCAGTGGGACAGAACAT	0.488													T	171310771	G	T	171310771	3	4	364	1	0	0	0	0	1	0	0	0	6006	1241	43	4	1500	4	FMO4	1	171310771	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7030	171310771	77939850	1167	24669											
MYOC	4653	broad.mit.edu	37	chr1	171605812	171605812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtttctgctgttctcagCgtgagaggctctcctaccca	6	14	9	12	1	3	1	1	1	3	1	5	2	3	1	2	1	3	4	2	1	1	4	rs142461632	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171605812C>T	ENST00000037502.6	-	3	839	c.768G>A	c.(766-768)acG>acA	p.T256T		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGTTCTCAGCGTGAGAGGCT	0.478													T	171605812	C	T	171605812	2	4	364	1	0	0	0	0	0	0	0	1	10162	755	27	1		1	MYOC	1	171605812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	295041	171605812	77644809	1168	24670											
VAMP4	8674	broad.mit.edu	37	chr1	171707535	171707535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcatcattgaggtggCgcttaaacttgggaggcata	11	11	11	8	1	3	1	3	1	0	0	3	2	3	2	0	4	1	2	0	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:171707535C>T	ENST00000236192.7	-	2	406	c.20G>A	c.(19-21)cGc>cAc	p.R7H	VAMP4_ENST00000415773.1_Missense_Mutation_p.R7H|VAMP4_ENST00000482519.1_5'UTR|VAMP4_ENST00000367740.2_Missense_Mutation_p.R7H	NM_001185127.1|NM_003762.4	NP_001172056.1|NP_003753.2	O75379	VAMP4_HUMAN	vesicle-associated membrane protein 4	7					vesicle-mediated transport	endosome|Golgi membrane|integral to membrane|lysosome				large_intestine(4)	4	all_cancers(6;1.42e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					ATTGAGGTGGCGCTTAAACTT	0.333													T	171707535	C	T	171707535	3	4	364	1	0	0	0	0	1	0	0	0	17217	768	27	1	433	1	VAMP4	1	171707535	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101723	171707535	77543086	1169	24671											
DNM3	26052	broad.mit.edu	37	chr1	172348281	172348281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaacaaatgtatccgaGatctaattccaaaaacaata	19	11	3	8	1	2	1	1	0	1	1	4	2	4	1	2	0	2	1	2	0	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172348281G>T	ENST00000358155.4	+	18	2193	c.2017G>T	c.(2017-2019)Gat>Tat	p.D673Y	DNM3_ENST00000355305.5_Missense_Mutation_p.D679Y|DNM3_ENST00000367731.1_Missense_Mutation_p.D669Y	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN	dynamin 3	679	GED.				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						ATGTATCCGAGATCTAATTCC	0.398													T	172348281	G	T	172348281	3	4	364	1	0	0	0	0	1	0	0	0	4712	942	33	4	2087	4	DNM3	1	172348281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	640746	172348281	76902340	1170	24672											
PIGC	5279	broad.mit.edu	37	chr1	172411395	172411395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaagtaatgaagactaggGcactcttcaggtcagcccac	13	8	10	10	0	3	3	2	2	1	1	3	3	3	3	1	2	1	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:172411395G>A	ENST00000367728.1	-	1	1831	c.368C>T	c.(367-369)gCc>gTc	p.A123V	C1orf105_ENST00000367727.4_Intron|PIGC_ENST00000344529.4_Missense_Mutation_p.A123V|PIGC_ENST00000258324.1_Missense_Mutation_p.A123V|PIGC_ENST00000484368.1_Intron			Q92535	PIGC_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class C	123					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			breast(1)|endometrium(1)|kidney(1)|lung(1)	4						GAAGACTAGGGCACTCTTCAG	0.488													A	172411395	G	A	172411395	3	1	364	1	0	0	0	0	1	0	0	0	11963	1203	42	2	529	2	PIGC	1	172411395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63114	172411395	76839226	1171	24673											
KLHL20	27252	broad.mit.edu	37	chr1	173721016	173721016	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcaatgcagtgatggcCtgggtcaaatacagtattca	11	12	11	7	0	3	1	3	1	0	0	3	1	3	1	1	2	2	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173721016C>A	ENST00000209884.4	+	4	847	c.711C>A	c.(709-711)gcC>gcA	p.A237A	KLHL20_ENST00000546011.1_Silent_p.A48A	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	237	BACK.				cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CAGTGATGGCCTGGGTCAAAT	0.428													A	173721016	C	A	173721016	2	1	364	1	0	0	0	0	0	0	0	1	8433	668	24	4		4	KLHL20	1	173721016	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1309621	173721016	75529605	1172	24674											
KLHL20	27252	broad.mit.edu	37	chr1	173725148	173725148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggacgagaccacggaaacCtatccgatgtggggaagtac	14	5	13	9	3	0	1	0	0	0	1	1	6	1	4	3	4	2	1	3	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173725148C>A	ENST00000209884.4	+	6	1074	c.938C>A	c.(937-939)cCt>cAt	p.P313H	KLHL20_ENST00000546011.1_Missense_Mutation_p.P124H	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	313					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						CCACGGAAACCTATCCGATGT	0.408													A	173725148	C	A	173725148	3	1	364	1	0	0	0	0	1	0	0	0	8433	681	24	4	956	4	KLHL20	1	173725148	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4132	173725148	75525473	1173	24675											
KLHL20	27252	broad.mit.edu	37	chr1	173744789	173744789	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggaacgttacaatccTcaggaaaacagatggcacac	16	6	9	10	1	1	1	1	0	0	1	2	3	2	3	1	3	3	2	1	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173744789T>A	ENST00000209884.4	+	10	1582	c.1446T>A	c.(1444-1446)ccT>ccA	p.P482P	KLHL20_ENST00000546011.1_Silent_p.P293P	NM_014458.3	NP_055273.2	Q9Y2M5	KLH20_HUMAN	kelch-like family member 20	482					cytoskeleton organization|negative regulation of apoptosis|proteasomal ubiquitin-dependent protein catabolic process|response to interferon-alpha	actin cytoskeleton|cell surface|Cul3-RING ubiquitin ligase complex|Golgi apparatus|perinuclear region of cytoplasm|PML body	actin binding|interferon-gamma binding|ubiquitin-protein ligase activity			breast(3)|endometrium(6)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|upper_aerodigestive_tract(1)	34						GTTACAATCCTCAGGAAAACA	0.453													A	173744789	T	A	173744789	2	1	364	1	0	0	0	0	0	0	0	1	8433	1538	54	5		5	KLHL20	1	173744789	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19641	173744789	75505832	1174	24676											
CENPL	91687	broad.mit.edu	37	chr1	173780371	173780371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcagaggagtggcacCtataaagtaatcttcaggtc	11	12	10	8	0	3	1	1	0	2	1	4	2	3	2	1	3	1	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173780371C>T	ENST00000356198.2	-	3	352	c.67G>A	c.(67-69)Ggt>Agt	p.G23S	CENPL_ENST00000345664.6_Missense_Mutation_p.G23S|CENPL_ENST00000367710.3_Missense_Mutation_p.G23S	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	23					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						GGAGTGGCACCTATAAAGTAA	0.448													T	173780371	C	T	173780371	3	4	364	1	0	0	0	0	1	0	0	0	3266	681	24	2	1125	2	CENPL	1	173780371	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35582	173780371	75470250	1175	24677											
DARS2	55157	broad.mit.edu	37	chr1	173799819	173799819	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcctctgtgaagaagAttttatgtgaagcccctgtg	9	11	12	9	1	1	4	0	2	1	2	1	4	1	4	3	1	2	1	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:173799819A>G	ENST00000361951.4	+	4	1043	c.316A>G	c.(316-318)Att>Gtt	p.I106V	DARS2_ENST00000239457.5_5'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	106					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	TGTGAAGAAGATTTTATGTGA	0.423													G	173799819	A	G	173799819	3	3	364	1	0	0	0	0	1	0	0	0	4276	333	12	3	330	3	DARS2	1	173799819	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19448	173799819	75450802	1176	24678											
RABGAP1L	9910	broad.mit.edu	37	chr1	174210653	174210653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccagcaatgtggagatagCatcttttccaatctataagg	13	12	8	8	0	2	1	0	0	2	1	4	2	4	1	2	2	2	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174210653C>T	ENST00000251507.4	+	5	749	c.575C>T	c.(574-576)gCa>gTa	p.A192V	RABGAP1L_ENST00000357444.6_Missense_Mutation_p.A155V|RABGAP1L_ENST00000367689.3_5'UTR	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	192	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GTGGAGATAGCATCTTTTCCA	0.363													T	174210653	C	T	174210653	3	4	364	1	0	0	0	0	1	0	0	0	13053	710	25	2	589	2	RABGAP1L	1	174210653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	410834	174210653	75039968	1177	24679											
RABGAP1L	9910	broad.mit.edu	37	chr1	174671315	174671315	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagctcatatgtatgcatCccagtggtttctcactcttt	8	15	8	10	0	3	0	2	0	2	0	5	1	4	1	1	2	2	4	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:174671315C>A	ENST00000251507.4	+	17	2264	c.2090C>A	c.(2089-2091)tCc>tAc	p.S697Y	RABGAP1L_ENST00000367687.1_Missense_Mutation_p.S23Y|RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.S24Y|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.S4Y	NM_014857.4	NP_055672.3	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	697	Rab-GAP TBC.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGTATGCATCCCAGTGGTTT	0.438													A	174671315	C	A	174671315	3	1	364	1	0	0	0	0	1	0	0	0	13053	855	30	4	2152	4	RABGAP1L	1	174671315	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	460662	174671315	74579306	1178	24680											
TNN	63923	broad.mit.edu	37	chr1	175049406	175049406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctcagctactaccccCtggggaaggagctctctggg	7	8	11	15	0	2	0	1	0	1	0	4	2	3	2	4	4	4	2	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175049406C>A	ENST00000239462.4	+	4	1005	c.892C>A	c.(892-894)Ctg>Atg	p.L298M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	298	Fibronectin type-III 1.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CTACTACCCCCTGGGGAAGGA	0.577													A	175049406	C	A	175049406	3	1	364	1	0	0	0	0	1	0	0	0	16423	680	24	4	902	4	TNN	1	175049406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	378091	175049406	74201215	1179	24681											
TNN	63923	broad.mit.edu	37	chr1	175087717	175087717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgacagcccccaaaacCtggtcactgactgggtgaca	12	7	9	13	0	1	3	1	3	0	0	1	3	1	3	3	2	2	0	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175087717C>A	ENST00000239462.4	+	11	2520	c.2407C>A	c.(2407-2409)Ctg>Atg	p.L803M		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	803	Fibronectin type-III 7.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CCCCCAAAACCTGGTCACTGA	0.522													A	175087717	C	A	175087717	3	1	364	1	0	0	0	0	1	0	0	0	16423	680	24	4	2445	4	TNN	1	175087717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38311	175087717	74162904	1180	24682											
TNN	63923	broad.mit.edu	37	chr1	175116130	175116130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacgtggagttgaaaatcCgccctcatggctacagcagg	10	9	11	11	2	1	1	1	1	0	0	2	2	2	2	2	3	3	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175116130C>T	ENST00000239462.4	+	19	3936	c.3823C>T	c.(3823-3825)Cgc>Tgc	p.R1275C		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1275	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGAAAATCCGCCCTCATGG	0.527											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	175116130	C	T	175116130	3	4	364	1	0	0	0	0	1	0	0	0	16423	652	23	1	3893	1	TNN	1	175116130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28413	175116130	74134491	1181	24683											
TNR	7143	broad.mit.edu	37	chr1	175299312	175299312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggcctcttggccatcccGcatgtccacgcgcagctcat	5	8	11	17	4	2	0	1	0	1	0	4	0	4	0	4	3	1	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175299312G>A	ENST00000367674.2	-	21	4399	c.3691C>T	c.(3691-3693)Cgg>Tgg	p.R1231W	TNR_ENST00000263525.2_Missense_Mutation_p.R1231W|RP3-518E13.2_ENST00000569593.1_RNA			Q92752	TENR_HUMAN	tenascin R		Fibrinogen C-terminal.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					TGGCCATCCCGCATGTCCACG	0.577													A	175299312	G	A	175299312	3	1	364	1	0	0	0	0	1	0	0	0	16438	1086	38	1	397	1	TNR	1	175299312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183182	175299312	73951309	1182	24684											
TNR	7143	broad.mit.edu	37	chr1	175324739	175324739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttgtctggtgacttcaCtggctgtcaggtttgccgga	5	14	12	10	1	3	1	2	1	1	0	3	2	3	2	1	4	1	2	1	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175324739C>T	ENST00000367674.2	-	17	3857	c.3149G>A	c.(3148-3150)aGt>aAt	p.S1050N	TNR_ENST00000263525.2_Missense_Mutation_p.S1050N			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 9.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S1050I(1)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					GGTGACTTCACTGGCTGTCAG	0.552													T	175324739	C	T	175324739	3	4	364	1	0	0	0	0	1	0	0	0	16438	565	20	2	955	2	TNR	1	175324739	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25427	175324739	73925882	1183	24685											
TNR	7143	broad.mit.edu	37	chr1	175360539	175360539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggttaaaggacgtaacatcGctggggacctgagcaatcac	12	8	12	9	2	1	1	1	1	0	0	2	3	1	3	1	4	2	4	1	4	4	2	rs148973031		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175360539G>A	ENST00000367674.2	-	7	2100	c.1392C>T	c.(1390-1392)agC>agT	p.S464S	TNR_ENST00000263525.2_Silent_p.S464S			Q92752	TENR_HUMAN	tenascin R		Fibronectin type-III 2.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix		p.S464S(3)		NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					ACGTAACATCGCTGGGGACCT	0.522													A	175360539	G	A	175360539	2	1	364	1	0	0	0	0	0	0	0	1	16438	1078	38	1		1	TNR	1	175360539	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35800	175360539	73890082	1184	24686											
TNR	7143	broad.mit.edu	37	chr1	175372720	175372720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaagctaaagttgccgtGgccactgcagtgagggatat	11	9	12	9	1	1	1	1	1	0	0	1	2	1	2	2	2	3	3	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:175372720G>T	ENST00000367674.2	-	4	1240	c.532C>A	c.(532-534)Cac>Aac	p.H178N	TNR_ENST00000263525.2_Missense_Mutation_p.H178N			Q92752	TENR_HUMAN	tenascin R		Cys-rich.				axon guidance|cell adhesion|signal transduction	proteinaceous extracellular matrix				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AAGTTGCCGTGGCCACTGCAG	0.562													T	175372720	G	T	175372720	3	4	364	1	0	0	0	0	1	0	0	0	16438	1348	47	4	3624	4	TNR	1	175372720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12181	175372720	73877901	1185	24687											
RFWD2	64326	broad.mit.edu	37	chr1	176105629	176105629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgattccttacttccaCtctcttaatatcctcttcca	7	19	1	14	0	3	1	0	1	3	0	8	1	7	1	4	0	1	0	4	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176105629C>T	ENST00000367669.3	-	7	1400	c.886G>A	c.(886-888)Gtg>Atg	p.V296M	RFWD2_ENST00000308769.8_Intron	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	296					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CTTACTTCCACTCTCTTAATA	0.343													T	176105629	C	T	176105629	3	4	364	1	0	0	0	0	1	0	0	0	13348	565	20	2	1365	2	RFWD2	1	176105629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	732909	176105629	73144992	1186	24688											
PAPPA2	60676	broad.mit.edu	37	chr1	176525904	176525904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatgatgacgcttatctcgGcaatcaaagatccaaggagt	14	9	10	8	2	2	4	1	2	1	2	4	5	3	5	1	2	0	2	1	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176525904G>A	ENST00000367662.3	+	2	1610	c.446G>A	c.(445-447)gGc>gAc	p.G149D	PAPPA2_ENST00000367661.3_Missense_Mutation_p.G149D	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	149					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						GCTTATCTCGGCAATCAAAGA	0.552													A	176525904	G	A	176525904	3	1	364	1	0	0	0	0	1	0	0	0	11509	1203	42	2	448	2	PAPPA2	1	176525904	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420275	176525904	72724717	1187	24689											
PAPPA2	60676	broad.mit.edu	37	chr1	176679142	176679142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaagcctttgctacatgTatgagggagatggcatatgt	11	11	12	7	0	0	2	0	1	0	1	0	3	0	2	2	2	4	3	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176679142T>C	ENST00000367662.3	+	11	4645	c.3481T>C	c.(3481-3483)Tat>Cat	p.Y1161H		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1161					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						TTGCTACATGTATGAGGGAGA	0.418													C	176679142	T	C	176679142	3	2	364	1	0	0	0	0	1	0	0	0	11509	1638	57	3	3572	3	PAPPA2	1	176679142	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	153238	176679142	72571479	1188	24690											
PAPPA2	60676	broad.mit.edu	37	chr1	176708801	176708802	+	Frame_Shift_Ins	INS	-	-	T																															agaggccagagcaatttttaINStttttttgacaactgatggc																								rs75317943		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176708801_176708802insT	ENST00000367662.3	+	13	5002_5003	c.3838_3839insT	c.(3838-3840)attfs	p.I1280fs		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1280					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						AGCAATTTTTATTTTTTTGACA	0.446													T	176708802	-	T	176708801	7	5	364	1	0	1	1	0	0	0	0	0	11509	449	16	0	3937	0	PAPPA2	1	176708801	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	29659	176708801	72541820	1189	24691											
PAPPA2	60676	broad.mit.edu	37	chr1	176762783	176762783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgacactctggagcactGgatggaacctgtcaaagtcc	10	9	11	11	0	2	1	1	1	1	0	3	4	3	4	2	3	3	2	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176762783G>T	ENST00000367662.3	+	20	6272	c.5108G>T	c.(5107-5109)tGg>tTg	p.W1703L		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1703	Sushi 5.				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						CTGGAGCACTGGATGGAACCT	0.478													T	176762783	G	T	176762783	3	4	364	1	0	0	0	0	1	0	0	0	11509	1357	47	4	5235	4	PAPPA2	1	176762783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53982	176762783	72487838	1190	24692											
ASTN1	460	broad.mit.edu	37	chr1	176833575	176833575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacttgagtgagctgcgccGcaagcttatcttgggttcct	6	13	12	10	2	1	2	0	2	1	0	2	2	2	2	2	1	4	5	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176833575G>A	ENST00000367654.3	-	23	3965	c.3754C>T	c.(3754-3756)Cgg>Tgg	p.R1252W	ASTN1_ENST00000361833.2_Missense_Mutation_p.R1244W|ASTN1_ENST00000367657.3_Intron	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane		p.R1244W(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAGCTGCGCCGCAAGCTTATC	0.567													A	176833575	G	A	176833575	3	1	364	1	0	0	0	0	1	0	0	0	1069	1086	38	1	158	1	ASTN1	1	176833575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70792	176833575	72417046	1191	24693											
ASTN1	460	broad.mit.edu	37	chr1	176853555	176853555	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacaatctgcaccccgattGgtggctctgagtgttcccac	7	11	9	14	1	2	1	0	1	2	0	3	2	3	1	3	2	2	3	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176853555G>T	ENST00000367654.3	-	19	3381	c.3170C>A	c.(3169-3171)cCa>cAa	p.P1057Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.P1049Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.P1049Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1		Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CACCCCGATTGGTGGCTCTGA	0.532													T	176853555	G	T	176853555	3	4	364	1	0	0	0	0	1	0	0	0	1069	1348	47	4	762	4	ASTN1	1	176853555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19980	176853555	72397066	1192	24694											
ASTN1	460	broad.mit.edu	37	chr1	176913103	176913103	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggggcacagtggccacCacaagaccatctggcagttg	10	6	12	13	0	1	1	0	0	1	1	2	1	2	1	4	4	0	3	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:176913103C>T	ENST00000367654.3	-	14	2536	c.2325G>A	c.(2323-2325)gtG>gtA	p.V775V	ASTN1_ENST00000361833.2_Silent_p.V767V|ASTN1_ENST00000424564.2_Silent_p.V767V|ASTN1_ENST00000367657.3_Silent_p.V767V|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						CAGTGGCCACCACAAGACCAT	0.517													T	176913103	C	T	176913103	2	4	364	1	0	0	0	0	0	0	0	1	1069	581	21	2		2	ASTN1	1	176913103	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59548	176913103	72337518	1193	24695											
SEC16B	89866	broad.mit.edu	37	chr1	177899015	177899015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatggctgggtgggatagCgacgctgagctaggcgattt	8	9	17	7	3	0	1	0	1	0	0	0	4	0	2	0	4	3	4	0	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177899015C>T	ENST00000308284.6	-	26	3250	c.3161G>A	c.(3160-3162)cGc>cAc	p.R1054H	SEC16B_ENST00000495165.1_5'UTR|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	1054					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGTGGGATAGCGACGCTGAGC	0.512													T	177899015	C	T	177899015	3	4	364	1	0	0	0	0	1	0	0	0	14080	768	27	1	25	1	SEC16B	1	177899015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	985912	177899015	71351606	1194	24696											
SEC16B	89866	broad.mit.edu	37	chr1	177911069	177911069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaatagcacagggtgactgCtctctccctggctcaagaca	10	9	9	13	0	2	2	1	1	1	1	4	2	3	2	1	2	2	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:177911069C>A	ENST00000308284.6	-	16	2077	c.1988G>T	c.(1987-1989)aGc>aTc	p.S663I	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	663					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						AGGGTGACTGCTCTCTCCCTG	0.498													A	177911069	C	A	177911069	3	1	364	1	0	0	0	0	1	0	0	0	14080	797	28	4	1238	4	SEC16B	1	177911069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12054	177911069	71339552	1195	24697											
RASAL2	9462	broad.mit.edu	37	chr1	178408655	178408655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttggtagaggggaacCtgtatcagtgaaaccacttc	11	10	12	8	0	2	2	1	1	1	1	3	4	2	4	2	4	2	2	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178408655C>A	ENST00000448150.3	+	6	1537	c.719C>A	c.(718-720)cCt>cAt	p.P240H	RASAL2_ENST00000367649.3_Missense_Mutation_p.P258H|RASAL2_ENST00000462775.1_Missense_Mutation_p.P110H	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	110	C2.|Poly-Lys.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGAGGGGAACCTGTATCAGTG	0.433													A	178408655	C	A	178408655	3	1	364	1	0	0	0	0	1	0	0	0	13152	681	24	4	812	4	RASAL2	1	178408655	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	497586	178408655	70841966	1196	24698											
RASAL2	9462	broad.mit.edu	37	chr1	178421775	178421775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtcattcagaacctggCcaactttgccaagtaggtga	12	9	10	10	0	2	2	2	1	0	1	2	2	2	2	3	3	3	1	3	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178421775C>T	ENST00000448150.3	+	11	2761	c.1943C>T	c.(1942-1944)gCc>gTc	p.A648V	RASAL2_ENST00000367649.3_Missense_Mutation_p.A666V|RASAL2_ENST00000462775.1_Missense_Mutation_p.A518V	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	518					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CAGAACCTGGCCAACTTTGCC	0.428													T	178421775	C	T	178421775	3	4	364	1	0	0	0	0	1	0	0	0	13152	739	26	2	2056	2	RASAL2	1	178421775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13120	178421775	70828846	1197	24699											
RASAL2	9462	broad.mit.edu	37	chr1	178433521	178433521	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagaaactgagcaaaatCtagatgaagccaagcatgct	17	7	10	7	0	1	4	0	2	1	2	1	5	1	5	1	1	5	3	1	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178433521C>T	ENST00000448150.3	+	15	4146	c.3328C>T	c.(3328-3330)Cta>Tta	p.L1110L	RASAL2_ENST00000367649.3_Silent_p.L1121L|RASAL2_ENST00000462775.1_Silent_p.L980L	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	980					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						TGAGCAAAATCTAGATGAAGC	0.458													T	178433521	C	T	178433521	2	4	364	1	0	0	0	0	0	0	0	1	13152	912	32	2		2	RASAL2	1	178433521	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11746	178433521	70817100	1198	24700											
ANGPTL1	9068	broad.mit.edu	37	chr1	178822899	178822899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaatgcccagcttcttttgCttgctgacagtctttgaatg	7	15	9	10	1	2	2	0	2	2	0	2	3	2	2	1	0	4	3	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178822899C>T	ENST00000234816.2	-	4	1294	c.847G>A	c.(847-849)Gca>Aca	p.A283T	RALGPS2_ENST00000367635.3_Intron|RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.A283T	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	283	Fibrinogen C-terminal.					extracellular space	receptor binding			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						GCTTCTTTTGCTTGCTGACAG	0.343													T	178822899	C	T	178822899	3	4	364	1	0	0	0	0	1	0	0	0	613	797	28	2	640	2	ANGPTL1	1	178822899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389378	178822899	70427722	1199	24701											
RALGPS2	55103	broad.mit.edu	37	chr1	178875981	178875981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaagcatttgagtgcagcCtgccaaagtaacaaacaaca	16	9	7	9	0	0	1	0	1	0	0	0	1	0	1	2	0	7	3	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:178875981C>T	ENST00000367635.3	+	19	2039	c.1701C>T	c.(1699-1701)gcC>gcT	p.A567A	RALGPS2_ENST00000367634.2_Silent_p.A541A	NM_152663.3	NP_689876.2	Q86X27	RGPS2_HUMAN	Ral GEF with PH domain and SH3 binding motif 2	567	PH.|Required for stimulation of nucleotide exchange by RALA (By similarity).				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TGAGTGCAGCCTGCCAAAGTA	0.348													T	178875981	C	T	178875981	2	4	364	1	0	0	0	0	0	0	0	1	13106	668	24	2		2	RALGPS2	1	178875981	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53082	178875981	70374640	1200	24702											
FAM20B	9917	broad.mit.edu	37	chr1	179013184	179013184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctccctgggagattgcaGcccagtgggtggttccccgg	5	9	15	12	1	1	1	0	0	1	1	3	2	2	1	4	4	2	2	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179013184G>A	ENST00000263733.4	+	2	538	c.202G>A	c.(202-204)Gcc>Acc	p.A68T		NM_014864.3	NP_055679.1	O75063	XYLK_HUMAN	family with sequence similarity 20, member B	68						Golgi membrane|integral to membrane	ATP binding|kinase activity|phosphotransferase activity, alcohol group as acceptor			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(3)	14						GGAGATTGCAGCCCAGTGGGT	0.582													A	179013184	G	A	179013184	3	1	364	1	0	0	0	0	1	0	0	0	5585	971	34	2	204	2	FAM20B	1	179013184	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137203	179013184	70237437	1201	24703											
TOR3A	64222	broad.mit.edu	37	chr1	179057219	179057219	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggactatctttctgttTctcaggtgggttctggggaa	6	15	12	8	0	4	0	1	0	4	0	5	2	4	2	1	5	0	2	1	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179057219T>C	ENST00000367627.3	+	4	1565	c.813T>C	c.(811-813)ttT>ttC	p.F271F	TOR3A_ENST00000352445.6_Silent_p.F271F|TOR3A_ENST00000495145.1_3'UTR	NM_022371.3	NP_071766.2	Q9H497	TOR3A_HUMAN	torsin family 3, member A	271					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum	ATP binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|urinary_tract(1)	13						TCTTTCTGTTTCTCAGGTGGG	0.597													C	179057219	T	C	179057219	2	2	364	1	0	0	0	0	0	0	0	1	16477	1780	62	3		3	TOR3A	1	179057219	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44035	179057219	70193402	1202	24704											
TDRD5	163589	broad.mit.edu	37	chr1	179562841	179562841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaggcatttgccaaaaGatttggacgatcattccaat	15	11	8	7	1	1	2	1	1	0	1	2	4	2	3	2	2	1	1	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179562841G>T	ENST00000444136.1	+	3	729	c.479G>T	c.(478-480)aGa>aTa	p.R160I	TDRD5_ENST00000294848.8_Missense_Mutation_p.R160I|TDRD5_ENST00000367614.1_Missense_Mutation_p.R160I	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	160	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						TTTGCCAAAAGATTTGGACGA	0.418													T	179562841	G	T	179562841	3	4	364	1	0	0	0	0	1	0	0	0	15833	942	33	4	485	4	TDRD5	1	179562841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505622	179562841	69687780	1203	24705											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815811	179815811	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgccacaggaaggaacTctggcctggaaatttatctt	10	12	9	10	0	3	0	0	0	3	0	4	3	3	3	2	4	2	0	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179815811T>A	ENST00000367612.3	-	6	1195	c.808A>T	c.(808-810)Agt>Tgt	p.S270C	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.S270C	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	270						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						AGGAAGGAACTCTGGCCTGGA	0.507													A	179815811	T	A	179815811	3	1	364	1	0	0	0	0	1	0	0	0	16474	1551	54	5	608	5	TOR1AIP2	1	179815811	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	252970	179815811	69434810	1204	24706											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179834104	179834104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctggggagcccactcaaGtgggaaagaccaaggaagaa	15	5	13	8	0	2	2	1	0	1	2	2	5	2	5	2	4	1	0	2	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179834104G>A	ENST00000553856.1	-	1	207	c.208C>T	c.(208-210)Ctt>Ttt	p.L70F	TOR1AIP2_ENST00000609928.1_Intron|TOR1AIP2_ENST00000482587.1_5'UTR|TOR1AIP2_ENST00000367612.3_Intron	NM_022347.3	NP_071742.1																					GCCCACTCAAGTGGGAAAGAC	0.443													A	179834104	G	A	179834104	3	1	364	1	0	0	0	0	1	0	0	0	16474	1029	36	2	1620	2	TOR1AIP2	1	179834104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18293	179834104	69416517	1205	24707											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179887080	179887080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttgagtcatttcccgcAggctctactttgatcttcta	6	16	7	12	2	4	2	1	2	3	0	5	2	5	2	1	1	1	3	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887080A>G	ENST00000606911.2	+	10	1649	c.1458A>G	c.(1456-1458)gcA>gcG	p.A486A	TOR1AIP1_ENST00000435319.4_Silent_p.A365A|TOR1AIP1_ENST00000528443.2_Silent_p.A487A|TOR1AIP1_ENST00000271583.3_Silent_p.A502A			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						CATTTCCCGCAGGCTCTACTT	0.443													G	179887080	A	G	179887080	2	3	364	1	0	0	0	0	0	0	0	1	16473	175	7	3		3	TOR1AIP1	1	179887080	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52976	179887080	69363541	1206	24708											
TOR1AIP1	26092	broad.mit.edu	37	chr1	179887200	179887200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagtctaggcctaaaGgaagttgaagaaaaagtaag	19	6	12	4	0	1	2	0	1	1	1	1	4	1	4	1	3	1	2	1	3	10	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179887200G>T	ENST00000606911.2	+	10	1769	c.1578G>T	c.(1576-1578)aaG>aaT	p.K526N	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.K405N|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.K527N|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.K542N			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1							integral to membrane|nuclear inner membrane				breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TAGGCCTAAAGGAAGTTGAAG	0.408													T	179887200	G	T	179887200	3	4	364	1	0	0	0	0	1	0	0	0	16473	991	35	4	1616	4	TOR1AIP1	1	179887200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120	179887200	69363421	1207	24709											
CEP350	9857	broad.mit.edu	37	chr1	179983260	179983260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagaaccagaagtcatcaGcaccagtacatgctcctagg	14	7	8	12	0	2	2	2	0	0	2	3	2	3	2	3	1	5	3	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179983260G>A	ENST00000367607.3	+	10	2090	c.1672G>A	c.(1672-1674)Gca>Aca	p.A558T		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	558						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GAAGTCATCAGCACCAGTACA	0.433													A	179983260	G	A	179983260	3	1	364	1	0	0	0	0	1	0	0	0	3284	971	34	2	1706	2	CEP350	1	179983260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96060	179983260	69267361	1208	24710											
CEP350	9857	broad.mit.edu	37	chr1	179989222	179989222	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagagcatgtaggaattttGcataaggattttgaatctat	13	16	9	3	0	1	2	0	1	1	1	1	4	1	4	0	2	2	3	0	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:179989222G>A	ENST00000367607.3	+	12	2731	c.2313G>A	c.(2311-2313)ttG>ttA	p.L771L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	771						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TAGGAATTTTGCATAAGGATT	0.413													A	179989222	G	A	179989222	2	1	364	1	0	0	0	0	0	0	0	1	3284	1310	46	2		2	CEP350	1	179989222	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5962	179989222	69261399	1209	24711											
CEP350	9857	broad.mit.edu	37	chr1	180012259	180012259	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctccccttgcaatactGtatgaccaccaacggcagca	11	7	9	14	1	0	1	0	1	0	0	1	2	1	2	4	2	5	5	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180012259G>A	ENST00000367607.3	+	20	4849	c.4431G>A	c.(4429-4431)ctG>ctA	p.L1477L		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1477						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGCAATACTGTATGACCACC	0.428													A	180012259	G	A	180012259	2	1	364	1	0	0	0	0	0	0	0	1	3284	1364	48	2		2	CEP350	1	180012259	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23037	180012259	69238362	1210	24712											
CEP350	9857	broad.mit.edu	37	chr1	180044227	180044227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagctcctagagtggaagCgacgtttagatgcagaagaa	14	7	14	6	2	0	4	0	0	0	4	1	7	1	6	1	2	3	3	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180044227C>T	ENST00000367607.3	+	28	6056	c.5638C>T	c.(5638-5640)Cga>Tga	p.R1880*		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1880						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AGAGTGGAAGCGACGTTTAGA	0.428													T	180044227	C	T	180044227	4	4	364	1	0	0	0	0	0	1	0	0	3284	760	27	1	5744	1	CEP350	1	180044227	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31968	180044227	69206394	1211	24713											
CEP350	9857	broad.mit.edu	37	chr1	180056829	180056829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctgaaaaacccaagatCaaacccctcacaccactaca	16	6	3	16	0	3	2	2	1	1	1	3	2	3	2	4	0	3	1	4	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180056829C>T	ENST00000367607.3	+	32	6820	c.6402C>T	c.(6400-6402)atC>atT	p.I2134I	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2134						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AACCCAAGATCAAACCCCTCA	0.393													T	180056829	C	T	180056829	2	4	364	1	0	0	0	0	0	0	0	1	3284	816	29	2		2	CEP350	1	180056829	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12602	180056829	69193792	1212	24714											
CEP350	9857	broad.mit.edu	37	chr1	180063428	180063428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacaagagaaaaaaaccaaCtggaagcccagctgaagtca	20	4	8	9	0	1	2	1	1	0	1	1	4	1	3	2	1	5	1	2	1	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180063428C>A	ENST00000367607.3	+	34	8606	c.8188C>A	c.(8188-8190)Ctg>Atg	p.L2730M	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2730						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						AAAAAACCAACTGGAAGCCCA	0.373													A	180063428	C	A	180063428	3	1	364	1	0	0	0	0	1	0	0	0	3284	564	20	4	8318	4	CEP350	1	180063428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6599	180063428	69187193	1213	24715											
CEP350	9857	broad.mit.edu	37	chr1	180064777	180064777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagactggtttgatgaagaCtttggtttgagctcttctca	9	15	10	7	0	2	5	1	3	2	2	3	5	2	5	0	2	1	3	0	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180064777C>T	ENST00000367607.3	+	35	9049	c.8631C>T	c.(8629-8631)gaC>gaT	p.D2877D	CEP350_ENST00000490141.1_3'UTR	NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	2877						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TTGATGAAGACTTTGGTTTGA	0.448													T	180064777	C	T	180064777	2	4	364	1	0	0	0	0	0	0	0	1	3284	564	20	2		2	CEP350	1	180064777	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1349	180064777	69185844	1214	24716											
LHX4	89884	broad.mit.edu	37	chr1	180217458	180217458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcaaccagcacatcctgGacaagttcatcctgaaggtc	11	8	9	13	0	1	1	1	1	0	0	4	2	3	2	3	2	3	4	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180217458G>A	ENST00000263726.2	+	2	359	c.115G>A	c.(115-117)Gac>Aac	p.D39N		NM_033343.3	NP_203129.1	Q969G2	LHX4_HUMAN	LIM homeobox 4	39	LIM zinc-binding 1.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)	16						GCACATCCTGGACAAGTTCAT	0.597													A	180217458	G	A	180217458	3	1	364	1	0	0	0	0	1	0	0	0	8833	1174	41	2	121	2	LHX4	1	180217458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152681	180217458	69033163	1215	24717											
XPR1	9213	broad.mit.edu	37	chr1	180780624	180780624	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattacccttgtgcttgccGgtaagtagtttaaattttga	10	17	8	6	1	0	1	0	1	0	0	0	1	0	1	2	1	3	4	2	1	6	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180780624G>A	ENST00000367590.4	+	7	961	c.763G>A	c.(763-765)Gct>Act	p.A255T	XPR1_ENST00000367589.3_Splice_Site_p.A255T	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	255						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						TGTGCTTGCCGGTAAGTAGTT	0.373													A	180780624	G	A	180780624	5	1	364	1	0	0	0	0	0	0	1	0	17553	1130	39	1	789	1	XPR1	1	180780624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	563166	180780624	68469997	1216	24718											
XPR1	9213	broad.mit.edu	37	chr1	180804025	180804025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagtttcgagtatttacaGcccccttccataaggtaggc	9	13	8	11	1	1	0	1	0	0	0	3	1	2	0	3	2	2	3	3	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180804025G>T	ENST00000367590.4	+	10	1348	c.1150G>T	c.(1150-1152)Gcc>Tcc	p.A384S	XPR1_ENST00000367589.3_Missense_Mutation_p.A384S	NM_004736.3	NP_004727.2	Q9UBH6	XPR1_HUMAN	xenotropic and polytropic retrovirus receptor 1	384						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	35						AGTATTTACAGCCCCCTTCCA	0.403													T	180804025	G	T	180804025	3	4	364	1	0	0	0	0	1	0	0	0	17553	971	34	4	1188	4	XPR1	1	180804025	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23401	180804025	68446596	1217	24719											
KIAA1614	57710	broad.mit.edu	37	chr1	180907788	180907788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtcagagtccagcaaGgaatcagagggaagcctgca	14	4	15	8	0	2	2	2	0	0	2	3	6	3	5	2	3	3	2	2	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180907788G>T	ENST00000367588.4	+	6	2914	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	KIAA1614_ENST00000367587.1_Missense_Mutation_p.K574N	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	953	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						AGTCCAGCAAGGAATCAGAGG	0.572													T	180907788	G	T	180907788	3	4	364	1	0	0	0	0	1	0	0	0	8306	991	35	4	2881	4	KIAA1614	1	180907788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103763	180907788	68342833	1218	24720											
KIAA1614	57710	broad.mit.edu	37	chr1	180910420	180910420	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgttacaatccctgcaccCggtgagtccaggggccccag	8	7	11	15	2	0	1	0	1	0	0	3	1	2	1	5	3	2	2	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:180910420C>T	ENST00000367588.4	+	7	3213	c.3158C>T	c.(3157-3159)cCg>cTg	p.P1053L	KIAA1614_ENST00000367587.1_Splice_Site_p.P674L|KIAA1614_ENST00000461346.1_3'UTR	NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	1053	Ser-rich.									NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TCCCTGCACCCGGTGAGTCCA	0.622													T	180910420	C	T	180910420	5	4	364	1	0	0	0	0	0	0	1	0	8306	666	23	1	3184	1	KIAA1614	1	180910420	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2632	180910420	68340201	1219	24721											
MR1	3140	broad.mit.edu	37	chr1	181018422	181018422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaaggtggaactgaagcGcctacagaggcactacaatc	13	7	11	10	1	1	2	1	1	0	1	2	3	1	3	1	3	4	2	1	3	6	3	rs145064363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181018422G>A	ENST00000367580.5	+	2	307	c.302G>A	c.(301-303)cGc>cAc	p.R101H	MR1_ENST00000282990.6_Missense_Mutation_p.R101H|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Missense_Mutation_p.R101H|MR1_ENST00000434571.2_Missense_Mutation_p.R101H	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	101	Alpha-1.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						GAACTGAAGCGCCTACAGAGG	0.617													A	181018422	G	A	181018422	3	1	364	1	0	0	0	0	1	0	0	0	9828	1087	38	1	308	1	MR1	1	181018422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108002	181018422	68232199	1220	24722											
MR1	3140	broad.mit.edu	37	chr1	181019222	181019222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaggatttctgcagtatgCatatgacgggcaggatttcc	10	11	11	9	1	1	1	0	1	1	0	2	3	2	3	1	3	2	4	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181019222C>T	ENST00000367580.5	+	3	409	c.404C>T	c.(403-405)gCa>gTa	p.A135V	MR1_ENST00000282990.6_Missense_Mutation_p.A135V|MR1_ENST00000438435.2_3'UTR|MR1_ENST00000367579.3_Intron|MR1_ENST00000434571.2_Missense_Mutation_p.A135V	NM_001531.2	NP_001522.1	Q95460	HMR1_HUMAN	major histocompatibility complex, class I-related	135	Alpha-2.|Ligand-binding.				antigen processing and presentation of peptide antigen via MHC class I|immune response	endoplasmic reticulum|extracellular region|integral to membrane|MHC class I protein complex	MHC class I receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	18						CTGCAGTATGCATATGACGGG	0.512													T	181019222	C	T	181019222	3	4	364	1	0	0	0	0	1	0	0	0	9828	710	25	2	414	2	MR1	1	181019222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	800	181019222	68231399	1221	24723											
CACNA1E	777	broad.mit.edu	37	chr1	181705510	181705510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagaagaaggagaagcGtgagacaggcaaagccatgg	17	2	16	6	1	0	4	0	1	0	4	0	7	0	4	1	3	3	2	1	3	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:181705510G>A	ENST00000526775.1	+	21	3470	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	CACNA1E_ENST00000367573.2_Missense_Mutation_p.R1121H|CACNA1E_ENST00000357570.5_Missense_Mutation_p.R1072H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R728H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R1102H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1053H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R1121H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1121					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						aaggagaagCGTGAGACAGGC	0.547													A	181705510	G	A	181705510	3	1	364	1	0	0	0	0	1	0	0	0	2568	1145	40	1	3448	1	CACNA1E	1	181705510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	686288	181705510	67545111	1222	24724											
GLUL	2752	broad.mit.edu	37	chr1	182353692	182353692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaacagtccggggaatgcGtatgctggcgctacgattgg	8	8	15	10	4	0	0	0	0	0	0	1	2	1	1	2	4	4	3	2	4	4	3	rs80358214		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182353692G>A	ENST00000311223.5	-	8	1866	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	GLUL_ENST00000331872.6_Missense_Mutation_p.R324C|GLUL_ENST00000339526.4_Missense_Mutation_p.R324C|GLUL_ENST00000417584.2_Missense_Mutation_p.R324C|GLUL_ENST00000491322.1_5'UTR	NM_002065.5	NP_002056.2	P15104	GLNA_HUMAN	glutamate-ammonia ligase	324			R -> C (in CSGD; reduced glutamine synthetase activity).		cell proliferation|glutamine biosynthetic process|neurotransmitter uptake	cytosol|Golgi apparatus|mitochondrion	ATP binding|glutamate decarboxylase activity|glutamate-ammonia ligase activity|identical protein binding			endometrium(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(1)	16					Asparaginase(DB00023)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)|L-Methionine(DB00134)	CGGGGAATGCGTATGCTGGCG	0.552													A	182353692	G	A	182353692	3	1	364	1	0	0	0	0	1	0	0	0	6534	1145	40	1	155	1	GLUL	1	182353692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648182	182353692	66896929	1223	24725											
TEDDM1	127670	broad.mit.edu	37	chr1	182369445	182369445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacatgaaccttgatggcActtgcttcctcatgagcacc	9	11	9	12	0	1	3	1	3	0	0	2	3	2	3	3	2	4	4	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182369445A>G	ENST00000367565.1	-	1	306	c.176T>C	c.(175-177)gTg>gCg	p.V59A		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	59						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						CCTTGATGGCACTTGCTTCCT	0.473													G	182369445	A	G	182369445	3	3	364	1	0	0	0	0	1	0	0	0	15849	159	6	3	649	3	TEDDM1	1	182369445	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15753	182369445	66881176	1224	24726											
DHX9	1660	broad.mit.edu	37	chr1	182827295	182827295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcacagtcctgtgccCtgtcacttgtcagacaactg	8	10	10	13	0	2	1	2	0	0	1	3	1	3	1	2	1	3	2	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182827295C>A	ENST00000367549.3	+	8	840	c.730C>A	c.(730-732)Ctg>Atg	p.L244M		NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	244	DRBM 2.|Interaction with BRCA1.|Interaction with CREBBP.				CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						GTCCTGTGCCCTGTCACTTGT	0.408													A	182827295	C	A	182827295	3	1	364	1	0	0	0	0	1	0	0	0	4555	680	24	4	756	4	DHX9	1	182827295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	457850	182827295	66423326	1225	24727											
DHX9	1660	broad.mit.edu	37	chr1	182853875	182853875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttggaccccgtaaatgaaCgtatgctgaacatgatccgt	12	10	10	9	3	0	3	0	3	0	0	1	4	1	4	3	1	3	4	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:182853875C>T	ENST00000367549.3	+	27	3498	c.3388C>T	c.(3388-3390)Cgt>Tgt	p.R1130C	DHX9_ENST00000485081.1_3'UTR	NM_001357.4	NP_001348.2	Q08211	DHX9_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 9	1130					CRD-mediated mRNA stabilization|nuclear mRNA splicing, via spliceosome	centrosome|CRD-mediated mRNA stability complex|nucleolus|nucleoplasm|ribonucleoprotein complex	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|double-stranded RNA binding|protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(10)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	49						CGTAAATGAACGTATGCTGAA	0.478													T	182853875	C	T	182853875	3	4	364	1	0	0	0	0	1	0	0	0	4555	536	19	1	3490	1	DHX9	1	182853875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26580	182853875	66396746	1226	24728											
LAMC1	3915	broad.mit.edu	37	chr1	183072602	183072602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcctgtgagaacacctaCtccaaggcaaaccgcggctt	10	8	10	13	2	0	1	0	1	0	1	2	2	2	1	4	3	3	3	4	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183072602C>T	ENST00000258341.4	+	2	815	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	186	Laminin N-terminal.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGAACACCTACTCCAAGGCAA	0.567													T	183072602	C	T	183072602	2	4	364	1	0	0	0	0	0	0	0	1	8673	576	20	2		2	LAMC1	1	183072602	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218727	183072602	66178019	1227	24729											
LAMC1	3915	broad.mit.edu	37	chr1	183087260	183087260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgacctctatcaagataCgtgggacatacagtgagaga	14	9	10	8	1	2	4	1	2	1	2	2	6	2	5	1	1	2	0	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183087260C>T	ENST00000258341.4	+	11	2226	c.1969C>T	c.(1969-1971)Cgt>Tgt	p.R657C		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	657	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATCAAGATACGTGGGACATA	0.383													T	183087260	C	T	183087260	3	4	364	1	0	0	0	0	1	0	0	0	8673	536	19	1	2011	1	LAMC1	1	183087260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14658	183087260	66163361	1228	24730											
LAMC1	3915	broad.mit.edu	37	chr1	183096535	183096535	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttaccggctggtaaaggAtaaggtaagctgtcaatagt	12	12	12	5	1	1	0	1	0	0	0	1	1	1	1	1	4	2	5	1	4	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183096535A>G	ENST00000258341.4	+	17	3376	c.3119A>G	c.(3118-3120)gAt>gGt	p.D1040G	LAMC1_ENST00000466964.1_3'UTR	NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	1040	Domain II and I.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTGGTAAAGGATAAGGTAAGC	0.443													G	183096535	A	G	183096535	3	3	364	1	0	0	0	0	1	0	0	0	8673	333	12	3	3185	3	LAMC1	1	183096535	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9275	183096535	66154086	1229	24731											
LAMC2	3918	broad.mit.edu	37	chr1	183204709	183204709	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtttttaatcctttcaGccacgttgagtcagccagta	8	17	7	9	1	2	1	2	1	0	0	3	1	3	1	3	0	2	3	3	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183204709G>A	ENST00000264144.4	+	16	2365		c.e16-1		LAMC2_ENST00000493293.1_Splice_Site	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2						cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						AATCCTTTCAGCCACGTTGAG	0.473											OREG0014042	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	183204709	G	A	183204709	5	1	364	1	0	0	0	0	0	0	1	0	8674	985	34	2	2362	2	LAMC2	1	183204709	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108174	183204709	66045912	1230	24732											
LAMC2	3918	broad.mit.edu	37	chr1	183206503	183206503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggtggaagaagcaaagaGgatcaaacaaaaagcggatt	20	5	12	4	1	1	2	1	0	0	2	1	5	1	5	0	4	3	1	0	4	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183206503G>T	ENST00000264144.4	+	18	2683	c.2618G>T	c.(2617-2619)aGg>aTg	p.R873M	LAMC2_ENST00000493293.1_Missense_Mutation_p.R873M	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	873	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GAAGCAAAGAGGATCAAACAA	0.468													T	183206503	G	T	183206503	3	4	364	1	0	0	0	0	1	0	0	0	8674	1000	35	4	2688	4	LAMC2	1	183206503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1794	183206503	66044118	1231	24733											
NMNAT2	23057	broad.mit.edu	37	chr1	183273936	183273936	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccatcagagagtaacaCaaagtggtgcagctgctccc	11	7	11	12	0	1	1	1	0	0	1	2	2	2	1	2	2	4	4	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183273936C>T	ENST00000294868.4	-	0	73				NMNAT2_ENST00000287713.6_Intron	NM_170706.3	NP_733820.1	Q9BZQ4	NMNA2_HUMAN	nicotinamide nucleotide adenylyltransferase 2						water-soluble vitamin metabolic process	Golgi membrane|nucleus	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(7)|skin(2)	18						GAGAGTAACACAAAGTGGTGC	0.488													T	183273936	C	T	183273936	1	4	364	1	0	0	0	0	0	0	0	0	10575	493	17	2		2	NMNAT2	1	183273936	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67433	183273936	65976685	1232	24734											
NCF2	4688	broad.mit.edu	37	chr1	183536117	183536117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtagttgcagggaacaaGccccttctgcagtgcagcac	11	7	12	11	0	1	0	0	0	1	0	1	1	1	1	2	2	6	6	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183536117G>A	ENST00000413720.1	-	8	1001	c.727C>T	c.(727-729)Ctt>Ttt	p.L243F	NCF2_ENST00000418089.1_Missense_Mutation_p.L207F|NCF2_ENST00000367535.3_Missense_Mutation_p.L288F|NCF2_ENST00000367536.1_Missense_Mutation_p.L288F	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	288	SH3 1.				cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						CAGGGAACAAGCCCCTTCTGC	0.537													A	183536117	G	A	183536117	3	1	364	1	0	0	0	0	1	0	0	0	10293	971	34	2	746	2	NCF2	1	183536117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262181	183536117	65714504	1233	24735											
NCF2	4688	broad.mit.edu	37	chr1	183538285	183538285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctaacttacctgaagatCtctggggttttcggtctggg	8	14	11	8	1	3	2	0	1	3	1	5	2	3	2	1	4	2	1	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:183538285C>A	ENST00000413720.1	-	6	844	c.570G>T	c.(568-570)gaG>gaT	p.E190D	NCF2_ENST00000418089.1_Missense_Mutation_p.E154D|NCF2_ENST00000367535.3_Missense_Mutation_p.E235D|NCF2_ENST00000367536.1_Missense_Mutation_p.E235D	NM_001190794.1	NP_001177723.1	P19878	NCF2_HUMAN	neutrophil cytosolic factor 2	235					cellular defense response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex|nucleolus	electron carrier activity|protein C-terminus binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30						ACCTGAAGATCTCTGGGGTTT	0.478													A	183538285	C	A	183538285	3	1	364	1	0	0	0	0	1	0	0	0	10293	912	32	4	911	4	NCF2	1	183538285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2168	183538285	65712336	1234	24736											
EDEM3	80267	broad.mit.edu	37	chr1	184663407	184663407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttctgtgggattagaagtCtgttcagaaggggaaatgct	10	14	13	4	0	3	2	1	0	2	2	3	4	3	4	0	3	1	2	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184663407C>T	ENST00000318130.8	-	20	2855	c.2589G>A	c.(2587-2589)caG>caA	p.Q863Q	EDEM3_ENST00000367512.3_Silent_p.Q836Q	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	863					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GATTAGAAGTCTGTTCAGAAG	0.373													T	184663407	C	T	184663407	2	4	364	1	0	0	0	0	0	0	0	1	4952	912	32	2		2	EDEM3	1	184663407	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1125122	184663407	64587214	1235	24737											
EDEM3	80267	broad.mit.edu	37	chr1	184688655	184688655	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtggatatgcacatcAagtagaagaggtggctggct	10	11	15	5	0	1	2	1	0	0	2	1	3	1	3	0	5	1	5	0	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184688655A>G	ENST00000318130.8	-	10	1265	c.999T>C	c.(997-999)ctT>ctC	p.L333L	EDEM3_ENST00000367512.3_Silent_p.L290L	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	333					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TATGCACATCAAGTAGAAGAG	0.408													G	184688655	A	G	184688655	2	3	364	1	0	0	0	0	0	0	0	1	4952	117	5	3		3	EDEM3	1	184688655	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25248	184688655	64561966	1236	24738											
EDEM3	80267	broad.mit.edu	37	chr1	184723757	184723757	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaaccggggacccacaGccccggccgccggcttcgct	5	4	15	17	5	0	0	0	0	0	0	1	2	0	2	6	6	2	2	6	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184723757G>T	ENST00000318130.8	-	1	290	c.24C>A	c.(22-24)ggC>ggA	p.G8G		NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	8					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGGACCCACAGCCCCGGCCGC	0.751													T	184723757	G	T	184723757	2	4	364	1	0	0	0	0	0	0	0	1	4952	958	34	4		4	EDEM3	1	184723757	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35102	184723757	64526864	1237	24739											
FAM129A	116496	broad.mit.edu	37	chr1	184764288	184764288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccgtggcctgggccgcGctgctttgccctcccatctc	1	10	12	18	3	1	0	0	0	1	0	3	0	2	0	5	3	2	2	5	3	0	1	rs150744246		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184764288G>A	ENST00000367511.3	-	14	2803	c.2610C>T	c.(2608-2610)agC>agT	p.S870S	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	870					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CCTGGGCCGCGCTGCTTTGCC	0.577													A	184764288	G	A	184764288	2	1	364	1	0	0	0	0	0	0	0	1	5481	1078	38	1		1	FAM129A	1	184764288	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40531	184764288	64486333	1238	24740											
FAM129A	116496	broad.mit.edu	37	chr1	184772785	184772785	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaactagtgcctcttgAaatatcttctttcggatggt	9	17	8	7	1	3	2	0	2	3	0	4	3	3	3	1	2	2	0	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:184772785A>G	ENST00000367511.3	-	12	1681	c.1488T>C	c.(1486-1488)ttT>ttC	p.F496F	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	496					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GTGCCTCTTGAAATATCTTCT	0.398													G	184772785	A	G	184772785	2	3	364	1	0	0	0	0	0	0	0	1	5481	243	9	3		3	FAM129A	1	184772785	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8497	184772785	64477836	1239	24741											
RNF2	6045	broad.mit.edu	37	chr1	185067296	185067296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaatgcatccacacataGcaatcaggaagcaggcccta	15	6	8	12	0	1	0	1	0	0	0	2	1	2	1	2	2	3	4	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067296G>T	ENST00000367510.3	+	5	845	c.557G>T	c.(556-558)aGc>aTc	p.S186I	RNF2_ENST00000367509.4_Missense_Mutation_p.S114I	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	186					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TCCACACATAGCAATCAGGAA	0.433													T	185067296	G	T	185067296	3	4	364	1	0	0	0	0	1	0	0	0	13563	971	34	4	571	4	RNF2	1	185067296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294511	185067296	64183325	1240	24742											
RNF2	6045	broad.mit.edu	37	chr1	185067376	185067376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttgataataacaatgcaGcaatggcaattgatccagta	16	10	8	7	0	0	2	0	2	0	0	1	2	1	2	1	1	4	5	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185067376G>T	ENST00000367510.3	+	5	925	c.637G>T	c.(637-639)Gca>Tca	p.A213S	RNF2_ENST00000367509.4_Missense_Mutation_p.A141S	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	213					histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TAACAATGCAGCAATGGCAAT	0.428													T	185067376	G	T	185067376	3	4	364	1	0	0	0	0	1	0	0	0	13563	971	34	4	651	4	RNF2	1	185067376	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	185067376	64183245	1241	24743											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185267195	185267195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatctttgtataggggCtccattcatttgactcaagg	11	13	10	7	0	3	1	2	1	1	0	4	2	4	2	1	4	0	2	1	4	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185267195C>A	ENST00000367498.3	-	15	2523	c.1901G>T	c.(1900-1902)aGc>aTc	p.S634I	IVNS1ABP_ENST00000392007.3_Missense_Mutation_p.S416I|IVNS1ABP_ENST00000459929.1_5'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein	634					interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TGTATAGGGGCTCCATTCATT	0.378													A	185267195	C	A	185267195	3	1	364	1	0	0	0	0	1	0	0	0	7988	797	28	4	31	4	IVNS1ABP	1	185267195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199819	185267195	63983426	1242	24744											
IVNS1ABP	10625	broad.mit.edu	37	chr1	185277969	185277969	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagcttttttgctgcaGaataaacatcttttaccaat	11	17	4	9	0	3	1	1	0	2	1	3	1	3	1	1	0	5	3	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185277969G>T	ENST00000392007.3	-	0	550				IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000367497.1_Missense_Mutation_p.S107Y|IVNS1ABP_ENST00000367498.3_Missense_Mutation_p.S107Y			Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						interspecies interaction between organisms|response to virus|RNA splicing|transcription from RNA polymerase III promoter	cytoplasm|cytoskeleton|spliceosomal complex|transcription factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						TTTTGCTGCAGAATAAACATC	0.294													T	185277969	G	T	185277969	1	4	364	1	0	0	0	0	0	0	0	0	7988	942	33	4		4	IVNS1ABP	1	185277969	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10774	185277969	63972652	1243	24745											
HMCN1	83872	broad.mit.edu	37	chr1	185959455	185959455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgtcccaggataagcCtgttgagatctccgtccttg	8	11	11	11	1	1	1	0	1	1	1	4	4	3	3	4	2	1	1	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:185959455C>A	ENST00000271588.4	+	22	3486	c.3257C>A	c.(3256-3258)cCt>cAt	p.P1086H	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.P1086H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1086	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGGATAAGCCTGTTGAGATC	0.453													A	185959455	C	A	185959455	3	1	364	1	0	0	0	0	1	0	0	0	7275	681	24	4	3343	4	HMCN1	1	185959455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	681486	185959455	63291166	1244	24746											
HMCN1	83872	broad.mit.edu	37	chr1	186031667	186031667	+	Frame_Shift_Del	DEL	A	A	-																															accacctcatattgtgggtgAaaatacattggaagatgtga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186031667delA	ENST00000271588.4	+	48	7677	c.7448delA	c.(7447-7449)gaafs	p.E2483fs	HMCN1_ENST00000367492.2_Frame_Shift_Del_p.E2483fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2483	Ig-like C2-type 23.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATTGTGGGTGAAAATACATTG	0.378													-	186031667	A	-	186031667	7	5	364	1	0	1	0	1	0	0	0	0	7275	246	9	0	7638	0	HMCN1	1	186031667	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	72212	186031667	63218954	1245	24747											
HMCN1	83872	broad.mit.edu	37	chr1	186045576	186045576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagttcctccaagttttcaGaaactctgggaaataggaaa	15	11	8	7	0	2	1	1	0	1	1	4	3	4	3	2	2	1	2	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186045576G>T	ENST00000271588.4	+	54	8536	c.8307G>T	c.(8305-8307)caG>caT	p.Q2769H	HMCN1_ENST00000367492.2_Missense_Mutation_p.Q2769H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2769	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAAGTTTTCAGAAACTCTGGG	0.383													T	186045576	G	T	186045576	3	4	364	1	0	0	0	0	1	0	0	0	7275	933	33	4	8521	4	HMCN1	1	186045576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13909	186045576	63205045	1246	24748											
HMCN1	83872	broad.mit.edu	37	chr1	186072761	186072761	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacggatcaagtgcaaacTctaggaggaggagaggttct	13	7	14	7	1	3	2	1	0	2	2	3	6	3	5	0	5	2	2	0	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186072761T>G	ENST00000271588.4	+	69	10960	c.10731T>G	c.(10729-10731)acT>acG	p.T3577T	HMCN1_ENST00000367492.2_Silent_p.T3577T	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3577	Ig-like C2-type 34.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAGTGCAAACTCTAGGAGGAG	0.443													G	186072761	T	G	186072761	2	3	364	1	0	0	0	0	0	0	0	1	7275	1538	54	5		5	HMCN1	1	186072761	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27185	186072761	63177860	1247	24749											
HMCN1	83872	broad.mit.edu	37	chr1	186114999	186114999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccagttaaaggtggccGtccctgtcccggagacacta	8	9	12	12	2	0	1	0	0	0	1	2	2	2	1	4	3	1	1	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186114999G>A	ENST00000271588.4	+	93	14781	c.14552G>A	c.(14551-14553)cGt>cAt	p.R4851H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4851H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4851	TSP type-1 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAAGGTGGCCGTCCCTGTCCC	0.537													A	186114999	G	A	186114999	3	1	364	1	0	0	0	0	1	0	0	0	7275	1145	40	1	14922	1	HMCN1	1	186114999	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42238	186114999	63135622	1248	24750											
HMCN1	83872	broad.mit.edu	37	chr1	186147631	186147631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttcaagtgtatctgtccaCcaggacaacatttattaggg	11	12	9	9	0	2	0	1	0	1	0	3	1	3	1	2	2	1	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186147631C>A	ENST00000271588.4	+	104	16256	c.16027C>A	c.(16027-16029)Cca>Aca	p.P5343T	HMCN1_ENST00000367492.2_Intron	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5343	EGF-like 6; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TATCTGTCCACCAGGACAACA	0.478													A	186147631	C	A	186147631	3	1	364	1	0	0	0	0	1	0	0	0	7275	507	18	4	16441	4	HMCN1	1	186147631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32632	186147631	63102990	1249	24751											
TPR	7175	broad.mit.edu	37	chr1	186286670	186286670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggagatctgactcatcaGatgcttgaaccggctcttct	9	11	11	10	1	5	4	2	2	3	2	5	5	5	4	1	3	2	2	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186286670G>A	ENST00000367478.4	-	49	7180	c.6884C>T	c.(6883-6885)tCt>tTt	p.S2295F		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGACTCATCAGATGCTTGAAC	0.438			T	NTRK1	papillary thyroid								A	186286670	G	A	186286670	3	1	364	1	0	0	0	0	1	0	0	0	16517	942	33	2	219	2	TPR	1	186286670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139039	186286670	62963951	1250	24752											
TPR	7175	broad.mit.edu	37	chr1	186292915	186292915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgactgaggtgctcgagggGcctgtctttcagatgctgat	6	12	15	8	1	2	4	1	3	1	1	3	5	2	4	1	3	2	2	1	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186292915G>A	ENST00000367478.4	-	43	6496	c.6200C>T	c.(6199-6201)gCc>gTc	p.A2067V		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGCTCGAGGGGCCTGTCTTTC	0.517			T	NTRK1	papillary thyroid								A	186292915	G	A	186292915	3	1	364	1	0	0	0	0	1	0	0	0	16517	1203	42	2	927	2	TPR	1	186292915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6245	186292915	62957706	1251	24753											
TPR	7175	broad.mit.edu	37	chr1	186329083	186329083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcttttgttctctagttTctccaaaagcaactgatcct	10	17	4	10	0	3	1	0	1	3	0	6	1	4	1	2	0	2	3	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329083T>C	ENST00000367478.4	-	12	1533	c.1237A>G	c.(1237-1239)Aaa>Gaa	p.K413E	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TTCTCTAGTTTCTCCAAAAGC	0.363			T	NTRK1	papillary thyroid								C	186329083	T	C	186329083	3	2	364	1	0	0	0	0	1	0	0	0	16517	1792	62	3	6014	3	TPR	1	186329083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36168	186329083	62921538	1252	24754											
TPR	7175	broad.mit.edu	37	chr1	186329453	186329453	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttagctacagctgctgcAgtaggagacatggcggcaag	11	8	13	9	1	1	1	0	0	1	1	1	2	1	1	0	3	5	6	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186329453A>G	ENST00000367478.4	-	11	1439	c.1143T>C	c.(1141-1143)acT>acC	p.T381T	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		CAGCTGCTGCAGTAGGAGACA	0.368			T	NTRK1	papillary thyroid								G	186329453	A	G	186329453	2	3	364	1	0	0	0	0	0	0	0	1	16517	175	7	3		3	TPR	1	186329453	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	370	186329453	62921168	1253	24755											
TPR	7175	broad.mit.edu	37	chr1	186330775	186330775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccagcttctttcaaaaGtttgtgtagttcctctactg	8	17	6	10	0	4	0	2	0	2	0	5	0	5	0	2	0	2	4	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186330775G>T	ENST00000367478.4	-	9	1233	c.937C>A	c.(937-939)Ctt>Att	p.L313I	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TCTTTCAAAAGTTTGTGTAGT	0.348			T	NTRK1	papillary thyroid								T	186330775	G	T	186330775	3	4	364	1	0	0	0	0	1	0	0	0	16517	1029	36	4	6326	4	TPR	1	186330775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1322	186330775	62919846	1254	24756											
TPR	7175	broad.mit.edu	37	chr1	186332042	186332042	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctcttccaagagccagaAgttcatcagttttggttttc	8	17	7	9	0	3	2	2	0	1	2	6	2	4	2	2	1	1	3	2	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186332042A>C	ENST00000367478.4	-	6	919	c.623T>G	c.(622-624)cTt>cGt	p.L208R	TPR_ENST00000474852.1_5'UTR	NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		AAGAGCCAGAAGTTCATCAGT	0.328			T	NTRK1	papillary thyroid								C	186332042	A	C	186332042	3	2	364	1	0	0	0	0	1	0	0	0	16517	72	3	5	6652	5	TPR	1	186332042	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1267	186332042	62918579	1255	24757											
C1orf27	54953	broad.mit.edu	37	chr1	186358749	186358749	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacttatgatatccatgAtccaaaggtaagaaatttac	16	12	6	7	1	0	3	0	2	0	1	3	4	2	3	2	1	2	1	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186358749A>G	ENST00000367470.3	+	6	703	c.467A>G	c.(466-468)gAt>gGt	p.D156G	C1orf27_ENST00000419367.3_Missense_Mutation_p.D124G|C1orf27_ENST00000432021.3_Missense_Mutation_p.D156G|C1orf27_ENST00000287859.6_Missense_Mutation_p.D156G	NM_001164245.1	NP_001157717.1	Q5SWX8	ODR4_HUMAN	chromosome 1 open reading frame 27	156						integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)	9						GATATCCATGATCCAAAGGTA	0.254													G	186358749	A	G	186358749	3	3	364	1	0	0	0	0	1	0	0	0	2057	333	12	3	485	3	C1orf27	1	186358749	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26707	186358749	62891872	1256	24758											
PTGS2	5743	broad.mit.edu	37	chr1	186645975	186645976	+	Frame_Shift_Ins	INS	-	-	T																															gaagcatacctgatatttcaINStttttccatccttgaaaagg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:186645975_186645976insT	ENST00000367468.5	-	6	848_849	c.712_713insA	c.(712-714)atgfs	p.M238fs	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	238					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	CTGATATTTCATTTTTCCATCC	0.312													T	186645976	-	T	186645975	7	5	364	1	0	1	1	0	0	0	0	0	12842	217	8	0	1121	0	PTGS2	1	186645975	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	287226	186645975	62604646	1257	24759											
RGS18	64407	broad.mit.edu	37	chr1	192127873	192127873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaagaagaaacaagcaaaGaagccaaaatcaggtaaaat	25	3	8	5	0	1	3	1	0	0	3	1	4	1	3	1	1	3	2	1	1	11	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192127873G>A	ENST00000367460.3	+	1	287	c.106G>A	c.(106-108)Gaa>Aaa	p.E36K	RGS18_ENST00000481707.1_3'UTR	NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	36					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AACAAGCAAAGAAGCCAAAAT	0.274													A	192127873	G	A	192127873	3	1	364	1	0	0	0	0	1	0	0	0	13389	943	33	2	108	2	RGS18	1	192127873	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5481898	192127873	57122748	1258	24760											
RGS18	64407	broad.mit.edu	37	chr1	192150425	192150425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttattttcttgatagatgGactagaggcttttaccagat	11	17	8	5	0	1	4	0	1	1	3	1	5	1	5	1	2	1	1	1	2	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:192150425G>A	ENST00000367460.3	+	4	468	c.287G>A	c.(286-288)gGa>gAa	p.G96E		NM_130782.2	NP_570138.1	Q9NS28	RGS18_HUMAN	regulator of G-protein signaling 18	96	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity			kidney(1)|large_intestine(2)|lung(15)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGATAGATGGACTAGAGGCT	0.269													A	192150425	G	A	192150425	3	1	364	1	0	0	0	0	1	0	0	0	13389	1174	41	2	301	2	RGS18	1	192150425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22552	192150425	57100196	1259	24761											
B3GALT2	8707	broad.mit.edu	37	chr1	193149591	193149591	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcgaataagagactcGccagtgattgaacacaaact	16	7	8	10	2	0	3	0	2	0	1	2	5	0	3	1	0	3	1	1	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193149591G>A	ENST00000367434.4	-	2	1857	c.1102C>T	c.(1102-1104)Cga>Tga	p.R368*	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	368					protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						TAAGAGACTCGCCAGTGATTG	0.423													A	193149591	G	A	193149591	4	1	364	1	0	0	0	0	0	1	0	0	1253	1095	38	1	170	1	B3GALT2	1	193149591	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	999166	193149591	56101030	1260	24762											
CDC73	79577	broad.mit.edu	37	chr1	193181591	193181591	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcttaatgcaaaagacCttctacaggacctgaagtaa	15	9	7	10	0	1	2	0	1	1	1	1	3	1	3	3	1	3	3	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:193181591C>A	ENST00000367435.3	+	13	1322	c.1138C>A	c.(1138-1140)Ctt>Att	p.L380I		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	380					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						TGCAAAAGACCTTCTACAGGA	0.328													A	193181591	C	A	193181591	3	1	364	1	0	0	0	0	1	0	0	0	3115	681	24	4	1188	4	CDC73	1	193181591	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32000	193181591	56069030	1261	24763											
KCNT2	343450	broad.mit.edu	37	chr1	196274387	196274387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttccagttttgaaagagcaaGagagtaacagtctttggctc	12	12	10	7	0	1	3	0	1	1	2	3	4	2	3	1	1	2	4	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196274387G>A	ENST00000367433.5	-	21	2601	c.2500C>T	c.(2500-2502)Ctt>Ttt	p.L834F	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.L784F|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000294725.9_Missense_Mutation_p.L858F|KCNT2_ENST00000609185.1_Missense_Mutation_p.L784F	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	858						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GAAAGAGCAAGAGAGTAACAG	0.338													A	196274387	G	A	196274387	3	1	364	1	0	0	0	0	1	0	0	0	8150	942	33	2	863	2	KCNT2	1	196274387	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3092796	196274387	52976234	1262	24764											
KCNT2	343450	broad.mit.edu	37	chr1	196288613	196288613	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaaagattttgtcacctaCttgtcaatagagcccaccat	12	11	6	12	0	2	2	2	0	0	2	2	2	2	2	4	0	2	0	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196288613C>T	ENST00000294725.9	-	20	3264		c.e20+1		KCNT2_ENST00000498426.1_Intron|KCNT2_ENST00000367433.5_Intron|KCNT2_ENST00000367431.4_Intron|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000609185.1_Intron			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTGTCACCTACTTGTCAATAG	0.418													T	196288613	C	T	196288613	5	4	364	1	0	0	0	0	0	0	1	0	8150	579	20	2	1094	2	KCNT2	1	196288613	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14226	196288613	52962008	1263	24765											
KCNT2	343450	broad.mit.edu	37	chr1	196300299	196300299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttaccttgtctaatcttAagcagcaaaatggtactttt	12	16	5	8	0	2	0	0	0	2	0	2	0	2	0	1	1	5	3	1	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196300299A>G	ENST00000367433.5	-	18	2191	c.2090T>C	c.(2089-2091)tTa>tCa	p.L697S	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.L647S|KCNT2_ENST00000451324.2_Missense_Mutation_p.L308S|KCNT2_ENST00000294725.9_Missense_Mutation_p.L697S|KCNT2_ENST00000609185.1_Missense_Mutation_p.L647S	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	697						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTCTAATCTTAAGCAGCAAAA	0.294													G	196300299	A	G	196300299	3	3	364	1	0	0	0	0	1	0	0	0	8150	372	13	3	1361	3	KCNT2	1	196300299	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11686	196300299	52950322	1264	24766											
KCNT2	343450	broad.mit.edu	37	chr1	196367748	196367748	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatctggacatacaaaggAcaatttggagcaaaatcttt	17	11	7	6	0	2	0	0	0	2	0	2	3	2	3	0	3	2	1	0	3	7	4	rs12738104		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196367748A>G	ENST00000367433.5	-	13	1340	c.1239T>C	c.(1237-1239)tgT>tgC	p.C413C	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Silent_p.C413C|KCNT2_ENST00000451324.2_Silent_p.C24C|KCNT2_ENST00000294725.9_Silent_p.C413C|KCNT2_ENST00000609185.1_Silent_p.C413C	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	413			C -> W (in dbSNP:rs12738104).			voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CATACAAAGGACAATTTGGAG	0.323													G	196367748	A	G	196367748	2	3	364	1	0	0	0	0	0	0	0	1	8150	273	10	3		3	KCNT2	1	196367748	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67449	196367748	52882873	1265	24767											
KCNT2	343450	broad.mit.edu	37	chr1	196451510	196451510	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccaaaagatatgagacCtataaaaagaataataataa	23	8	4	6	0	1	3	1	1	0	3	1	4	1	3	2	0	0	0	2	0	11	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196451510C>A	ENST00000367433.5	-	4	377		c.e4-1		KCNT2_ENST00000367431.4_Splice_Site|KCNT2_ENST00000451324.2_Splice_Site|KCNT2_ENST00000294725.9_Splice_Site|KCNT2_ENST00000609185.1_Splice_Site	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2							voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GATATGAGACCTATAAAAAGA	0.269													A	196451510	C	A	196451510	5	1	364	1	0	0	0	0	0	0	1	0	8150	695	24	4	3232	4	KCNT2	1	196451510	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83762	196451510	52799111	1266	24768											
CFH	3075	broad.mit.edu	37	chr1	196654269	196654269	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacacagaactggagatgAaatcacgtaccagtgtagaa	18	7	9	7	1	1	4	1	1	0	3	1	5	1	4	1	1	3	2	1	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196654269A>C	ENST00000367429.4	+	7	1106	c.866A>C	c.(865-867)gAa>gCa	p.E289A	CFH_ENST00000439155.2_Missense_Mutation_p.E289A|CFH_ENST00000359637.2_Missense_Mutation_p.E225A	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	289	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACTGGAGATGAAATCACGTAC	0.388													C	196654269	A	C	196654269	3	2	364	1	0	0	0	0	1	0	0	0	3313	246	9	5	892	5	CFH	1	196654269	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	202759	196654269	52596352	1267	24769											
CFH	3075	broad.mit.edu	37	chr1	196659244	196659244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataatcaaaatcatggaaGaaagtttgtacagggtaaat	19	11	8	3	0	2	1	2	0	0	1	2	2	2	2	0	2	1	3	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659244G>T	ENST00000367429.4	+	9	1451	c.1211G>T	c.(1210-1212)aGa>aTa	p.R404I	CFH_ENST00000439155.2_Missense_Mutation_p.R404I|CFH_ENST00000359637.2_Missense_Mutation_p.R340I	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	404	Sushi 7.				complement activation, alternative pathway	extracellular space		p.R404I(1)		NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AATCATGGAAGAAAGTTTGTA	0.353													T	196659244	G	T	196659244	3	4	364	1	0	0	0	0	1	0	0	0	3313	942	33	4	1245	4	CFH	1	196659244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4975	196659244	52591377	1268	24770											
CFH	3075	broad.mit.edu	37	chr1	196659281	196659281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatctatagacgttgcctgCcatcctggctacgctcttcc	8	12	7	14	2	2	1	0	0	2	1	4	1	4	1	4	1	3	3	4	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196659281C>T	ENST00000367429.4	+	9	1488	c.1248C>T	c.(1246-1248)tgC>tgT	p.C416C	CFH_ENST00000439155.2_Silent_p.C416C|CFH_ENST00000359637.2_Silent_p.C352C	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	416	Sushi 7.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						ACGTTGCCTGCCATCCTGGCT	0.413													T	196659281	C	T	196659281	2	4	364	1	0	0	0	0	0	0	0	1	3313	747	26	2		2	CFH	1	196659281	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	196659281	52591340	1269	24771											
CFHR4	10877	broad.mit.edu	37	chr1	196884207	196884207	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtcctactatgaactTcagggttctaattatgtaac	11	14	7	9	0	2	1	1	1	1	0	3	1	3	1	2	1	4	2	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196884207T>A	ENST00000367416.2	+	9	1613	c.1476T>A	c.(1474-1476)ctT>ctA	p.L492L	CFHR4_ENST00000367418.2_Silent_p.L246L|CFHR4_ENST00000251424.4_Silent_p.L246L|CFHR4_ENST00000608469.1_Silent_p.L116L|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ACTATGAACTTCAGGGTTCTA	0.413													A	196884207	T	A	196884207	2	1	364	1	0	0	0	0	0	0	0	1	3317	1770	62	5		5	CFHR4	1	196884207	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	224926	196884207	52366414	1270	24772											
CFHR4	10877	broad.mit.edu	37	chr1	196887380	196887380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacatgaataaaaataaCatacagttaaaaggaaaaag	26	6	6	3	0	0	1	0	1	0	0	0	3	0	2	0	1	3	1	0	1	12	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196887380C>A	ENST00000367416.2	+	10	1715	c.1578C>A	c.(1576-1578)aaC>aaA	p.N526K	CFHR4_ENST00000367418.2_Missense_Mutation_p.N280K|CFHR4_ENST00000251424.4_Missense_Mutation_p.N280K|CFHR4_ENST00000608469.1_Missense_Mutation_p.N150K|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						ATAAAAATAACATACAGTTAA	0.274													A	196887380	C	A	196887380	3	1	364	1	0	0	0	0	1	0	0	0	3317	477	17	4	862	4	CFHR4	1	196887380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3173	196887380	52363241	1271	24773											
CFHR5	81494	broad.mit.edu	37	chr1	196952198	196952198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggatggtcaccaacacCgaagtgtctcagtgagtaaa	15	7	11	8	1	2	2	2	1	1	1	3	4	2	3	2	2	1	1	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:196952198C>T	ENST00000367414.5	+	2	370	c.314C>T	c.(313-315)cCg>cTg	p.P105L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P81L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	81	Sushi 2.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TCACCAACACCGAAGTGTCTC	0.403													T	196952198	C	T	196952198	3	4	364	1	0	0	0	0	1	0	0	0	3318	652	23	1	248	1	CFHR5	1	196952198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64818	196952198	52298423	1272	24774											
F13B	2165	broad.mit.edu	37	chr1	197021959	197021959	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaatccacattaacagtacAtggttctgtaaaacaaaatg	17	11	6	7	0	1	0	0	0	1	0	2	0	2	0	1	1	3	4	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197021959A>G	ENST00000367412.1	-	9	1403	c.1360T>C	c.(1360-1362)Tgt>Cgt	p.C454R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	454	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TTAACAGTACATGGTTCTGTA	0.259													G	197021959	A	G	197021959	3	3	364	1	0	0	0	0	1	0	0	0	5383	217	8	3	641	3	F13B	1	197021959	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69761	197021959	52228662	1273	24775											
ASPM	259266	broad.mit.edu	37	chr1	197059134	197059134	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatactgcgattacaacttcGgatcaaaacaaatattttag	17	12	5	7	2	1	0	1	0	0	0	2	2	1	1	0	1	5	0	0	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197059134G>A	ENST00000367409.4	-	25	10166	c.9910C>T	c.(9910-9912)Cga>Tga	p.R3304*	ASPM_ENST00000294732.7_Nonsense_Mutation_p.R1719*|ASPM_ENST00000367408.1_Nonsense_Mutation_p.R969*	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3304					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTACAACTTCGGATCAAAACA	0.343													A	197059134	G	A	197059134	4	1	364	1	0	0	0	0	0	1	0	0	1061	1124	39	1	539	1	ASPM	1	197059134	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37175	197059134	52191487	1274	24776											
ASPM	259266	broad.mit.edu	37	chr1	197071586	197071586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctctgaatgagagttgcGgctatatgcatcatttttaa	10	15	8	8	1	2	2	1	2	1	1	3	3	3	2	1	1	2	3	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197071586G>A	ENST00000367409.4	-	18	7051	c.6795C>T	c.(6793-6795)gcC>gcT	p.A2265A	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2265	IQ 20.|IQ 21.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAGAGTTGCGGCTATATGCA	0.348													A	197071586	G	A	197071586	2	1	364	1	0	0	0	0	0	0	0	1	1061	1103	39	1		1	ASPM	1	197071586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12452	197071586	52179035	1275	24777											
ASPM	259266	broad.mit.edu	37	chr1	197072572	197072572	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatacattgcttccttcCtgcagtccatgctctgaaat	8	14	5	14	0	1	1	0	1	1	0	5	1	5	1	4	0	4	3	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197072572C>A	ENST00000367409.4	-	18	6065	c.5809G>T	c.(5809-5811)Gga>Tga	p.G1937*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1937					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGCTTCCTTCCTGCAGTCCAT	0.428													A	197072572	C	A	197072572	4	1	364	1	0	0	0	0	0	1	0	0	1061	690	24	4	4668	4	ASPM	1	197072572	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	986	197072572	52178049	1276	24778											
ASPM	259266	broad.mit.edu	37	chr1	197073511	197073511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaagatgctagaacttTcatggcaaaaatataagctc	15	11	8	7	0	1	2	1	0	0	2	2	2	1	2	0	2	3	4	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197073511T>C	ENST00000367409.4	-	18	5126	c.4870A>G	c.(4870-4872)Aaa>Gaa	p.K1624E	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1624					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						GCTAGAACTTTCATGGCAAAA	0.393													C	197073511	T	C	197073511	3	2	364	1	0	0	0	0	1	0	0	0	1061	1792	62	3	5607	3	ASPM	1	197073511	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	939	197073511	52177110	1277	24779											
ASPM	259266	broad.mit.edu	37	chr1	197074288	197074288	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaatttcagaaatctttGtctagtggaatatcttctcc	10	18	5	8	0	6	1	2	0	4	1	7	2	6	2	1	1	0	0	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197074288G>A	ENST00000367409.4	-	18	4349	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1365	IQ 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGAAATCTTTGTCTAGTGGAA	0.303													A	197074288	G	A	197074288	4	1	364	1	0	0	0	0	0	1	0	0	1061	1386	48	2	6384	2	ASPM	1	197074288	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	777	197074288	52176333	1278	24780											
ASPM	259266	broad.mit.edu	37	chr1	197094253	197094253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtgcatcttttgaagaCgacttattgccggaatcctg	9	14	9	9	2	1	2	0	1	1	1	2	4	2	3	2	1	2	1	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197094253C>T	ENST00000367409.4	-	11	3261	c.3005G>A	c.(3004-3006)cGt>cAt	p.R1002H	ASPM_ENST00000294732.7_Missense_Mutation_p.R1002H|ASPM_ENST00000367408.1_Missense_Mutation_p.R252H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1002	CH 1.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CTTTTGAAGACGACTTATTGC	0.378													T	197094253	C	T	197094253	3	4	364	1	0	0	0	0	1	0	0	0	1061	536	19	1	7500	1	ASPM	1	197094253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19965	197094253	52156368	1279	24781											
ASPM	259266	broad.mit.edu	37	chr1	197112714	197112714	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgaaagcagggctaataGgtgatatgggtattttattt	12	15	11	3	0	0	2	0	2	0	0	0	2	0	2	0	3	1	3	0	3	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197112714G>T	ENST00000367409.4	-	3	924	c.668C>A	c.(667-669)cCt>cAt	p.P223H	ASPM_ENST00000294732.7_Missense_Mutation_p.P223H	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	223					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AGGGCTAATAGGTGATATGGG	0.413													T	197112714	G	T	197112714	3	4	364	1	0	0	0	0	1	0	0	0	1061	1000	35	4	9869	4	ASPM	1	197112714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18461	197112714	52137907	1280	24782											
ZBTB41	360023	broad.mit.edu	37	chr1	197157461	197157461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctttaaccgagcaaaccGtgatttaaaatgttcttcac	13	13	6	9	2	2	1	1	1	1	0	2	2	2	1	2	0	4	3	2	0	4	6	rs146939360	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197157461G>A	ENST00000367405.4	-	4	1575	c.1507C>T	c.(1507-1509)Cgg>Tgg	p.R503W	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	503					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						CGAGCAAACCGTGATTTAAAA	0.348													A	197157461	G	A	197157461	3	1	364	1	0	0	0	0	1	0	0	0	17644	1144	40	1	1250	1	ZBTB41	1	197157461	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44747	197157461	52093160	1281	24783											
ZBTB41	360023	broad.mit.edu	37	chr1	197169499	197169499	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcagaatgagtataGgtcacttggtcacactccac	10	11	8	12	0	2	2	2	1	0	1	4	2	4	2	2	2	1	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197169499G>T	ENST00000367405.4	-	1	173	c.105C>A	c.(103-105)acC>acA	p.T35T	ZBTB41_ENST00000467322.1_5'UTR	NM_194314.2	NP_919290.2	Q5SVQ8	ZBT41_HUMAN	zinc finger and BTB domain containing 41	35					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(11)|lung(11)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	40						AATGAGTATAGGTCACTTGGT	0.423													T	197169499	G	T	197169499	2	4	364	1	0	0	0	0	0	0	0	1	17644	987	35	4		4	ZBTB41	1	197169499	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12038	197169499	52081122	1282	24784											
CRB1	23418	broad.mit.edu	37	chr1	197325986	197325986	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggtgcccagtgtgagatCgacctcaatgaatgcaatag	13	8	11	9	1	1	2	1	2	0	1	2	4	1	2	2	1	2	1	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197325986C>T	ENST00000367400.3	+	5	1149	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	CRB1_ENST00000535699.1_Silent_p.I269I|CRB1_ENST00000538660.1_Silent_p.I338I|CRB1_ENST00000543483.1_Silent_p.I37I|CRB1_ENST00000367399.2_Silent_p.I226I	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	338					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AGTGTGAGATCGACCTCAATG	0.458													T	197325986	C	T	197325986	2	4	364	1	0	0	0	0	0	0	0	1	3879	874	31	1		1	CRB1	1	197325986	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156487	197325986	51924635	1283	24785											
CRB1	23418	broad.mit.edu	37	chr1	197326118	197326118	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagcctcaggttatgtCtgtatctgtcagcctggatt	8	14	10	9	0	4	1	2	1	2	0	4	2	4	2	2	2	2	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197326118C>A	ENST00000367400.3	+	5	1281	c.1146C>A	c.(1144-1146)gtC>gtA	p.V382V	CRB1_ENST00000535699.1_Silent_p.V313V|CRB1_ENST00000538660.1_Silent_p.V382V|CRB1_ENST00000543483.1_Silent_p.V81V|CRB1_ENST00000367399.2_Silent_p.V270V	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	382	EGF-like 9.				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						CAGGTTATGTCTGTATCTGTC	0.468													A	197326118	C	A	197326118	2	1	364	1	0	0	0	0	0	0	0	1	3879	900	32	4		4	CRB1	1	197326118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132	197326118	51924503	1284	24786											
CRB1	23418	broad.mit.edu	37	chr1	197404300	197404300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctaagtacaatagaaatcGgaggcatttatctctcttac	13	13	7	8	1	3	1	0	0	3	1	5	2	3	2	0	2	2	2	0	2	7	6	rs62636275		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:197404300G>A	ENST00000367397.1	+	5	2308	c.1450G>A	c.(1450-1452)Gga>Aga	p.G484R	CRB1_ENST00000535699.1_Missense_Mutation_p.G1079R|CRB1_ENST00000538660.1_Intron|CRB1_ENST00000544212.1_Missense_Mutation_p.G584R|CRB1_ENST00000367400.3_Missense_Mutation_p.G1103R|CRB1_ENST00000367399.2_Missense_Mutation_p.G991R			P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	1103					cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	p.G1103R(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						AATAGAAATCGGAGGCATTTA	0.368													A	197404300	G	A	197404300	3	1	364	1	0	0	0	0	1	0	0	0	3879	1117	39	1	3341	1	CRB1	1	197404300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78182	197404300	51846321	1285	24787											
PTPRC	5788	broad.mit.edu	37	chr1	198676000	198676000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgaggtgcataaccttacaGaatgtaaaaatgcgtctgtt	14	12	9	6	1	1	2	0	1	1	1	1	2	1	2	1	1	4	3	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:198676000G>A	ENST00000367376.2	+	9	988	c.817G>A	c.(817-819)Gaa>Aaa	p.E273K	PTPRC_ENST00000348564.6_Missense_Mutation_p.E114K|PTPRC_ENST00000594404.1_Missense_Mutation_p.E112K|PTPRC_ENST00000352140.3_Missense_Mutation_p.E225K|PTPRC_ENST00000442510.2_Missense_Mutation_p.E275K	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	p.E273*(1)		breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						TAACCTTACAGAATGTAAAAA	0.318													A	198676000	G	A	198676000	3	1	364	1	0	0	0	0	1	0	0	0	12885	943	33	2	858	2	PTPRC	1	198676000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1271700	198676000	50574621	1286	24788											
ZNF281	23528	broad.mit.edu	37	chr1	200376235	200376235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttgtataccctgagaaatCtgacactgaagtccttactc	12	13	6	10	0	1	3	0	3	1	1	3	4	2	3	2	0	2	1	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376235C>T	ENST00000294740.3	-	2	2723	c.2599G>A	c.(2599-2601)Gat>Aat	p.D867N	ZNF281_ENST00000367352.3_Missense_Mutation_p.D831N|ZNF281_ENST00000367353.1_Missense_Mutation_p.D867N	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CCTGAGAAATCTGACACTGAA	0.443													T	200376235	C	T	200376235	3	4	364	1	0	0	0	0	1	0	0	0	17919	913	32	2	92	2	ZNF281	1	200376235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1700235	200376235	48874386	1287	24789											
ZNF281	23528	broad.mit.edu	37	chr1	200376255	200376255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacactgaagtccttactCtatggtccacttctccatta	9	14	5	13	0	2	2	0	2	2	0	5	2	4	2	3	1	1	0	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200376255C>A	ENST00000294740.3	-	2	2703	c.2579G>T	c.(2578-2580)aGa>aTa	p.R860I	ZNF281_ENST00000367352.3_Missense_Mutation_p.R824I|ZNF281_ENST00000367353.1_Missense_Mutation_p.R860I	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGTCCTTACTCTATGGTCCAC	0.438													A	200376255	C	A	200376255	3	1	364	1	0	0	0	0	1	0	0	0	17919	913	32	4	112	4	ZNF281	1	200376255	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	200376255	48874366	1288	24790											
ZNF281	23528	broad.mit.edu	37	chr1	200377356	200377356	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggttttccagacaaggatTtctgtcctactatgtctggt	7	17	9	8	0	2	1	0	0	2	1	4	2	4	2	2	3	1	1	2	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377356T>G	ENST00000294740.3	-	2	1602	c.1478A>C	c.(1477-1479)aAa>aCa	p.K493T	ZNF281_ENST00000367352.3_Missense_Mutation_p.K457T|ZNF281_ENST00000367353.1_Missense_Mutation_p.K493T	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						AGACAAGGATTTCTGTCCTAC	0.393													G	200377356	T	G	200377356	3	3	364	1	0	0	0	0	1	0	0	0	17919	1841	64	5	1213	5	ZNF281	1	200377356	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1101	200377356	48873265	1289	24791											
ZNF281	23528	broad.mit.edu	37	chr1	200377831	200377831	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactatgtgtcctcttgtGtctctccatatggtacttct	5	18	6	12	0	3	0	0	0	3	0	7	0	6	0	3	1	1	1	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200377831G>C	ENST00000294740.3	-	2	1127	c.1003C>G	c.(1003-1005)Cac>Gac	p.H335D	ZNF281_ENST00000367352.3_Missense_Mutation_p.H299D|ZNF281_ENST00000367353.1_Missense_Mutation_p.H335D	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GTCCTCTTGTGTCTCTCCATA	0.408													C	200377831	G	C	200377831	3	2	364	1	0	0	0	0	1	0	0	0	17919	1377	48	4	1688	4	ZNF281	1	200377831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475	200377831	48872790	1290	24792											
C1orf106	55765	broad.mit.edu	37	chr1	200869240	200869240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcctccccaggagctgacGggcaccttgccagcggagta	7	7	12	15	2	0	1	0	1	0	0	2	3	2	3	5	3	3	3	5	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200869240G>A	ENST00000367342.4	+	4	644	c.444G>A	c.(442-444)acG>acA	p.T148T	C1orf106_ENST00000413687.2_Silent_p.T63T	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	148										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AGGAGCTGACGGGCACCTTGC	0.622													A	200869240	G	A	200869240	2	1	364	1	0	0	0	0	0	0	0	1	2000	1103	39	1		1	C1orf106	1	200869240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491409	200869240	48381381	1291	24793											
C1orf106	55765	broad.mit.edu	37	chr1	200877871	200877871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagaggaatcccaagtGccaaaacctcctccagagtc	12	6	8	15	0	0	2	0	0	0	2	4	3	3	3	6	1	3	1	6	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200877871G>A	ENST00000367342.4	+	7	1043	c.843G>A	c.(841-843)gtG>gtA	p.V281V	C1orf106_ENST00000413687.2_Silent_p.V196V	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	281										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						AATCCCAAGTGCCAAAACCTC	0.607													A	200877871	G	A	200877871	2	1	364	1	0	0	0	0	0	0	0	1	2000	1306	46	2		2	C1orf106	1	200877871	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8631	200877871	48372750	1292	24794											
KIF21B	23046	broad.mit.edu	37	chr1	200943316	200943316	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taattccacaactttacccgGcagtcactgtgtggggagag	10	10	11	10	1	1	1	1	0	0	1	2	2	2	1	2	3	2	1	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200943316G>A	ENST00000332129.2	-	34	5098	c.4782C>T	c.(4780-4782)tgC>tgT	p.C1594C	KIF21B_ENST00000422435.2_Silent_p.C1607C|KIF21B_ENST00000360529.5_Intron|KIF21B_ENST00000461742.2_Intron	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1607					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						ACTTTACCCGGCAGTCACTGT	0.612													A	200943316	G	A	200943316	2	1	364	1	0	0	0	0	0	0	0	1	8347	1195	42	2		2	KIF21B	1	200943316	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65445	200943316	48307305	1293	24795											
KIF21B	23046	broad.mit.edu	37	chr1	200948844	200948844	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacatcttgcagcttcggtCtgtgagagatgggaggaagc	9	9	14	9	1	2	2	0	1	2	1	3	5	2	4	1	3	3	2	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200948844C>T	ENST00000332129.2	-	29	4257		c.e29-1		KIF21B_ENST00000422435.2_Splice_Site|KIF21B_ENST00000360529.5_Splice_Site|KIF21B_ENST00000461742.2_Splice_Site	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B						microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						CAGCTTCGGTCTGTGAGAGAT	0.597											OREG0014066	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	200948844	C	T	200948844	5	4	364	1	0	0	0	0	0	0	1	0	8347	927	32	2	958	2	KIF21B	1	200948844	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5528	200948844	48301777	1294	24796											
KIF21B	23046	broad.mit.edu	37	chr1	200956013	200956013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggacttccttctcgtcagCggggacgtctctgtggctcg	4	12	13	12	4	3	0	1	0	2	0	7	2	4	2	1	4	1	1	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:200956013C>T	ENST00000332129.2	-	26	3964	c.3648G>A	c.(3646-3648)ccG>ccA	p.P1216P	KIF21B_ENST00000422435.2_Silent_p.P1216P|KIF21B_ENST00000360529.5_Silent_p.P1216P|KIF21B_ENST00000461742.2_Silent_p.P1216P	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	1216					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCTCGTCAGCGGGGACGTCT	0.547													T	200956013	C	T	200956013	2	4	364	1	0	0	0	0	0	0	0	1	8347	755	27	1		1	KIF21B	1	200956013	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7169	200956013	48294608	1295	24797											
CACNA1S	779	broad.mit.edu	37	chr1	201018173	201018173	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacttcccaaagcccagAgggggctgaatccttctcag	11	7	10	13	0	1	3	1	1	1	2	4	3	3	3	3	2	2	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201018173A>T	ENST00000362061.3	-	35	4522	c.4296T>A	c.(4294-4296)ccT>ccA	p.P1432P	CACNA1S_ENST00000367338.3_Silent_p.P1413P	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1432					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	p.P1432P(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CAAAGCCCAGAGGGGGCTGAA	0.597													T	201018173	A	T	201018173	2	4	364	1	0	0	0	0	0	0	0	1	2573	291	11	5		5	CACNA1S	1	201018173	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62160	201018173	48232448	1296	24798											
CACNA1S	779	broad.mit.edu	37	chr1	201029852	201029852	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtattcaaagtaggaggaGgtgacaatgtaccacacctg	14	8	12	7	0	1	1	1	1	0	0	1	3	1	3	2	4	1	3	2	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201029852G>T	ENST00000362061.3	-	26	3574	c.3348C>A	c.(3346-3348)acC>acA	p.T1116T	CACNA1S_ENST00000367338.3_Silent_p.T1116T	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1116					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTAGGAGGAGGTGACAATGT	0.517													T	201029852	G	T	201029852	2	4	364	1	0	0	0	0	0	0	0	1	2573	987	35	4		4	CACNA1S	1	201029852	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11679	201029852	48220769	1297	24799											
CACNA1S	779	broad.mit.edu	37	chr1	201052448	201052448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttccactgcctccaatgtCggctgagggaggggacagag	8	7	16	10	1	0	2	0	1	0	1	3	4	2	4	3	5	1	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201052448C>T	ENST00000362061.3	-	10	1461	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q	CACNA1S_ENST00000367338.3_Missense_Mutation_p.R412Q	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	412					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CCTCCAATGTCGGCTGAGGGA	0.547													T	201052448	C	T	201052448	3	4	364	1	0	0	0	0	1	0	0	0	2573	884	31	1	4526	1	CACNA1S	1	201052448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22596	201052448	48198173	1298	24800											
IGFN1	91156	broad.mit.edu	37	chr1	201183408	201183408	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacctgggacctggcacCtggtttaaggatggcgtcaa	9	9	14	9	1	1	1	1	1	0	0	1	3	1	3	3	5	0	2	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201183408C>A	ENST00000335211.4	+	13	8962	c.8832C>A	c.(8830-8832)acC>acA	p.T2944T	IGFN1_ENST00000295591.8_Silent_p.T104T|IGFN1_ENST00000451870.2_Silent_p.T487T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GACCTGGCACCTGGTTTAAGG	0.612													A	201183408	C	A	201183408	2	1	364	1	0	0	0	0	0	0	0	1	7648	668	24	4		4	IGFN1	1	201183408	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130960	201183408	48067213	1299	24801											
IGFN1	91156	broad.mit.edu	37	chr1	201187676	201187676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaggaggtggacggtggCggacgtgcggcagggctgtc	7	5	22	7	4	0	1	0	0	0	1	1	5	0	4	0	8	1	2	0	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201187676C>T	ENST00000335211.4	+	18	9918	c.9788C>T	c.(9787-9789)gCg>gTg	p.A3263V	IGFN1_ENST00000295591.8_Missense_Mutation_p.A423V	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGACGGTGGCGGACGTGCGG	0.622													T	201187676	C	T	201187676	3	4	364	1	0	0	0	0	1	0	0	0	7648	768	27	1	9854	1	IGFN1	1	201187676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4268	201187676	48062945	1300	24802											
IGFN1	91156	broad.mit.edu	37	chr1	201193940	201193940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacagtggtctctacaCtgtggtgctgaggaccctgc	7	10	12	12	0	2	2	1	1	1	1	3	3	2	3	1	3	3	1	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201193940C>T	ENST00000335211.4	+	21	10554	c.10424C>T	c.(10423-10425)aCt>aTt	p.T3475I	IGFN1_ENST00000295591.8_Intron	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GGTCTCTACACTGTGGTGCTG	0.597													T	201193940	C	T	201193940	3	4	364	1	0	0	0	0	1	0	0	0	7648	565	20	2	10502	2	IGFN1	1	201193940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6264	201193940	48056681	1301	24803											
IGFN1	91156	broad.mit.edu	37	chr1	201196086	201196086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggttcctggtgggcctgcgGtcccacctgctgccccaggg	2	8	15	16	2	0	0	0	0	0	0	2	0	2	0	6	5	3	2	6	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201196086G>A	ENST00000335211.4	+	23	10993	c.10863G>A	c.(10861-10863)cgG>cgA	p.R3621R	IGFN1_ENST00000295591.8_3'UTR	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TGGGCCTGCGGTCCCACCTGC	0.677													A	201196086	G	A	201196086	2	1	364	1	0	0	0	0	0	0	0	1	7648	1248	44	2		2	IGFN1	1	201196086	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2146	201196086	48054535	1302	24804											
PKP1	5317	broad.mit.edu	37	chr1	201292216	201292216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttgtaccattcagatGccatccgcacctacctgaac	9	10	8	14	1	1	2	1	1	0	1	2	2	2	2	5	1	4	4	5	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201292216G>A	ENST00000263946.3	+	10	1893	c.1642G>A	c.(1642-1644)Gcc>Acc	p.A548T	PKP1_ENST00000352845.3_Missense_Mutation_p.A548T|PKP1_ENST00000367324.3_Missense_Mutation_p.A527T	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	548					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						CCATTCAGATGCCATCCGCAC	0.582													A	201292216	G	A	201292216	3	1	364	1	0	0	0	0	1	0	0	0	12061	1319	46	2	1680	2	PKP1	1	201292216	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96130	201292216	47958405	1303	24805											
LAD1	3898	broad.mit.edu	37	chr1	201352498	201352498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccaacttcactgtgttgtCtgggagcttcatgctggcac	6	13	10	12	0	3	0	2	0	1	0	4	1	4	1	1	2	3	4	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201352498C>T	ENST00000391967.2	-	6	1496	c.1195G>A	c.(1195-1197)Gac>Aac	p.D399N	LAD1_ENST00000367313.3_Missense_Mutation_p.D413N|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	399						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						ACTGTGTTGTCTGGGAGCTTC	0.617													T	201352498	C	T	201352498	3	4	364	1	0	0	0	0	1	0	0	0	8658	913	32	2	378	2	LAD1	1	201352498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60282	201352498	47898123	1304	24806											
IPO9	55705	broad.mit.edu	37	chr1	201821264	201821264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagtaacagacacacagatgCcacttgttgctcctgtcatt	12	11	7	11	0	1	2	1	0	0	2	2	2	2	2	2	0	3	3	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201821264C>T	ENST00000361565.4	+	5	616	c.547C>T	c.(547-549)Cca>Tca	p.P183S	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	183					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CACACAGATGCCACTTGTTGC	0.363													T	201821264	C	T	201821264	3	4	364	1	0	0	0	0	1	0	0	0	7857	739	26	2	565	2	IPO9	1	201821264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	468766	201821264	47429357	1305	24807											
IPO9	55705	broad.mit.edu	37	chr1	201828116	201828116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccttgcagacctcaacCtctcaggtatgtttcagcac	9	12	6	14	0	4	1	4	0	1	1	6	1	5	1	3	1	3	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201828116C>A	ENST00000361565.4	+	13	1531	c.1462C>A	c.(1462-1464)Ctc>Atc	p.L488I		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	488					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGACCTCAACCTCTCAGGTAT	0.468													A	201828116	C	A	201828116	3	1	364	1	0	0	0	0	1	0	0	0	7857	681	24	4	1512	4	IPO9	1	201828116	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6852	201828116	47422505	1306	24808											
IPO9	55705	broad.mit.edu	37	chr1	201838754	201838754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacaacagtagtacgaaatAcaaagcctcccctttcccag	14	8	6	13	1	0	1	0	1	0	0	2	2	2	1	4	0	4	2	4	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201838754A>G	ENST00000361565.4	+	17	2110	c.2041A>G	c.(2041-2043)Aca>Gca	p.T681A		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	681					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						AGTACGAAATACAAAGCCTCC	0.483													G	201838754	A	G	201838754	3	3	364	1	0	0	0	0	1	0	0	0	7857	391	14	3	2107	3	IPO9	1	201838754	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10638	201838754	47411867	1307	24809											
RNPEP	6051	broad.mit.edu	37	chr1	201970880	201970880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttaagaaaaagagaGtggatatcattccaggtaag	16	9	11	5	0	1	3	1	1	0	2	2	5	2	4	1	2	1	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:201970880G>T	ENST00000295640.4	+	8	1454	c.1411G>T	c.(1411-1413)Gtg>Ttg	p.V471L	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Missense_Mutation_p.V432L	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	471					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		GAAAAAGAGAGTGGATATCAT	0.433													T	201970880	G	T	201970880	3	4	364	1	0	0	0	0	1	0	0	0	13600	1029	36	4	1441	4	RNPEP	1	201970880	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132126	201970880	47279741	1308	24810											
PTPN7	5778	broad.mit.edu	37	chr1	202128442	202128442	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacatgcttcttggctggcGttttttcaggcggaggctgg	4	13	15	9	2	2	0	1	0	1	0	2	1	2	1	0	6	1	5	0	6	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202128442G>A	ENST00000543735.1	-	0	211				PTPN7_ENST00000308986.5_Missense_Mutation_p.T30M|PTPN7_ENST00000367279.4_Missense_Mutation_p.T69M|PTPN7_ENST00000544762.1_De_novo_Start_OutOfFrame|PTPN7_ENST00000309017.3_Missense_Mutation_p.T135M			P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTTGGCTGGCGTTTTTTCAGG	0.637													A	202128442	G	A	202128442	1	1	364	1	0	0	0	0	0	0	0	0	12881	1145	40	1		1	PTPN7	1	202128442	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157562	202128442	47122179	1309	24811											
LGR6	59352	broad.mit.edu	37	chr1	202245467	202245467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctcatctccctggtcccGgagaggagctttgaggggct	7	9	13	12	1	2	2	1	1	1	1	4	4	3	3	3	5	2	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202245467G>A	ENST00000367278.3	+	5	551	c.462G>A	c.(460-462)ccG>ccA	p.P154P	LGR6_ENST00000308543.3_3'UTR|LGR6_ENST00000255432.7_Silent_p.P102P|LGR6_ENST00000439764.2_Intron	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	154						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						CCCTGGTCCCGGAGAGGAGCT	0.617													A	202245467	G	A	202245467	2	1	364	1	0	0	0	0	0	0	0	1	8818	1103	39	1		1	LGR6	1	202245467	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117025	202245467	47005154	1310	24812											
KDM5B	10765	broad.mit.edu	37	chr1	202718086	202718086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttaccaatttacggacaGtttctcttaaagctttctca	10	15	5	11	1	2	0	1	0	2	0	4	1	2	1	2	1	3	2	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202718086G>T	ENST00000367265.3	-	14	3167	c.2003C>A	c.(2002-2004)aCt>aAt	p.T668N	KDM5B_ENST00000367264.2_Missense_Mutation_p.T704N	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	668					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						TTTACGGACAGTTTCTCTTAA	0.358													T	202718086	G	T	202718086	3	4	364	1	0	0	0	0	1	0	0	0	8192	1029	36	4	2687	4	KDM5B	1	202718086	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	472619	202718086	46532535	1311	24813											
KDM5B	10765	broad.mit.edu	37	chr1	202724582	202724583	+	Splice_Site	INS	-	-	A																															gccactatcaagatactcctINSaaaaataagaagacaaaaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202724582_202724583insA	ENST00000367265.3	-	11	2521		c.e11-2		KDM5B_ENST00000367264.2_Splice_Site|KDM5B_ENST00000456180.1_Splice_Site	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B						negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						AAGATACTCCTAAAAATAAGAA	0.347													A	202724583	-	A	202724582	8	5	364	1	0	1	1	0	0	0	1	0	8192	1536	53	0	3347	0	KDM5B	1	202724582	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	6496	202724582	46526039	1312	24814											
KDM5B	10765	broad.mit.edu	37	chr1	202727577	202727577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccatttccccaaaagtaCggagggtatagtccctggct	9	10	10	12	1	0	0	0	0	0	0	2	1	2	1	4	3	2	3	4	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202727577C>T	ENST00000367265.3	-	9	2303	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	KDM5B_ENST00000456180.1_5'UTR|KDM5B_ENST00000367264.2_Missense_Mutation_p.R416H	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	380					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CCCAAAAGTACGGAGGGTATA	0.383													T	202727577	C	T	202727577	3	4	364	1	0	0	0	0	1	0	0	0	8192	536	19	1	3571	1	KDM5B	1	202727577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2995	202727577	46523044	1313	24815											
KLHL12	59349	broad.mit.edu	37	chr1	202866077	202866077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaaccaccaaaagcaCttcattggctcctgaagaca	13	6	6	16	0	1	2	1	1	0	1	2	2	2	2	5	1	2	2	5	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202866077C>T	ENST00000367261.3	-	7	1062	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	KLHL12_ENST00000367259.1_Missense_Mutation_p.V15M|KLHL12_ENST00000435533.3_Missense_Mutation_p.V320M	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	282					Wnt receptor signaling pathway		protein binding			NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			ACCAAAAGCACTTCATTGGCT	0.468													T	202866077	C	T	202866077	3	4	364	1	0	0	0	0	1	0	0	0	8426	565	20	2	886	2	KLHL12	1	202866077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138500	202866077	46384544	1314	24816											
ADIPOR1	51094	broad.mit.edu	37	chr1	202917539	202917539	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactgggcatgtttgctCttcttcagcctatgggggaa	6	12	14	9	0	3	0	1	0	2	0	3	1	3	1	1	4	2	4	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:202917539C>A	ENST00000340990.5	-	3	449	c.151G>T	c.(151-153)Gag>Tag	p.E51*	ADIPOR1_ENST00000367254.3_Nonsense_Mutation_p.E51*|ADIPOR1_ENST00000436244.1_Nonsense_Mutation_p.E51*	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	51					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			CATGTTTGCTCTTCTTCAGCC	0.502													A	202917539	C	A	202917539	4	1	364	1	0	0	0	0	0	1	0	0	318	922	32	4	1000	4	ADIPOR1	1	202917539	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51462	202917539	46333082	1315	24817											
PPFIA4	8497	broad.mit.edu	37	chr1	203029425	203029425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatgtccgctctgtcGgacacagagatccagcggga	9	7	12	13	3	2	1	1	0	1	1	5	4	4	3	3	2	1	1	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203029425G>A	ENST00000367240.2	+	21	3128	c.2601G>A	c.(2599-2601)tcG>tcA	p.S867S	PPFIA4_ENST00000414050.2_Silent_p.S595S|PPFIA4_ENST00000447715.2_Silent_p.S866S|PPFIA4_ENST00000295706.4_Silent_p.S382S|PPFIA4_ENST00000599966.1_Silent_p.S382S|PPFIA4_ENST00000272198.6_Silent_p.S382S			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	382					cell communication	cell surface|cytoplasm	protein binding	p.S1021S(1)		NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						CCGCTCTGTCGGACACAGAGA	0.632													A	203029425	G	A	203029425	2	1	364	1	0	0	0	0	0	0	0	1	12389	1103	39	1		1	PPFIA4	1	203029425	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111886	203029425	46221196	1316	24818											
PPFIA4	8497	broad.mit.edu	37	chr1	203045491	203045491	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccactatctctacggAcacatgctctccgccttccg	7	10	5	19	3	2	0	0	0	2	0	6	1	4	1	4	1	2	1	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203045491A>G	ENST00000367240.2	+	29	4061	c.3534A>G	c.(3532-3534)ggA>ggG	p.G1178G	PPFIA4_ENST00000414050.2_Silent_p.G906G|PPFIA4_ENST00000447715.2_Silent_p.G1177G|PPFIA4_ENST00000295706.4_Silent_p.G684G|PPFIA4_ENST00000599966.1_Silent_p.G684G|PPFIA4_ENST00000272198.6_Silent_p.G693G|PPFIA4_ENST00000594572.1_Intron			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	693					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						ATCTCTACGGACACATGCTCT	0.602													G	203045491	A	G	203045491	2	3	364	1	0	0	0	0	0	0	0	1	12389	262	10	3		3	PPFIA4	1	203045491	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16066	203045491	46205130	1317	24819											
ADORA1	134	broad.mit.edu	37	chr1	203098113	203098113	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgccaccttctgcttcatCgtgtcgctggcggtggctga	4	12	13	12	3	2	1	1	1	1	0	4	2	2	1	2	3	2	3	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203098113C>T	ENST00000367236.4	+	2	1065	c.144C>T	c.(142-144)atC>atT	p.I48I	ADORA1_ENST00000337894.4_Silent_p.I48I|ADORA1_ENST00000367235.1_Silent_p.I48I|ADORA1_ENST00000309502.3_Silent_p.I48I	NM_001048230.1	NP_001041695.1	P30542	AA1R_HUMAN	adenosine A1 receptor	48					induction of apoptosis by extracellular signals|inflammatory response|nervous system development|phagocytosis	integral to plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(9)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25					Aminophylline(DB01223)|Caffeine(DB00201)|Defibrotide(DB04932)|Gabapentin(DB00996)|Imipramine(DB00458)|Pegademase bovine(DB00061)|Theophylline(DB00277)	TCTGCTTCATCGTGTCGCTGG	0.632													T	203098113	C	T	203098113	2	4	364	1	0	0	0	0	0	0	0	1	326	874	31	1		1	ADORA1	1	203098113	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52622	203098113	46152508	1318	24820											
CHIT1	1118	broad.mit.edu	37	chr1	203188359	203188359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccttggttttgaagctCtccacatcatcaaagcccac	10	11	5	15	0	4	1	3	1	1	0	5	1	4	1	3	1	2	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203188359C>T	ENST00000367229.1	-	9	1048	c.1014G>A	c.(1012-1014)gaG>gaA	p.E338E	CHIT1_ENST00000535569.1_Silent_p.E329E|CHIT1_ENST00000484834.1_5'UTR|CHIT1_ENST00000255427.3_Silent_p.E319E	NM_001270509.1|NM_003465.2	NP_001257438.1|NP_003456.1	Q13231	CHIT1_HUMAN	chitinase 1 (chitotriosidase)	338					chitin catabolic process|immune response|response to bacterium	extracellular space|lysosome	cation binding|chitin binding|endochitinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|stomach(2)	27						TTTTGAAGCTCTCCACATCAT	0.547													T	203188359	C	T	203188359	2	4	364	1	0	0	0	0	0	0	0	1	3376	912	32	2		2	CHIT1	1	203188359	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90246	203188359	46062262	1319	24821											
OPTC	26254	broad.mit.edu	37	chr1	203472684	203472684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcttcccagaataacCtgatagagaccatgcagaga	13	10	9	9	0	1	4	0	1	1	3	2	6	2	4	3	0	2	2	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203472684C>T	ENST00000367222.2	+	7	951	c.835C>T	c.(835-837)Ctg>Ttg	p.L279L		NM_014359.3	NP_055174.1	Q9UBM4	OPT_HUMAN	opticin	279						proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			breast(1)|cervix(1)|kidney(5)|large_intestine(3)|lung(8)|pancreas(1)|stomach(1)	20			BRCA - Breast invasive adenocarcinoma(75;0.109)			CCAGAATAACCTGATAGAGAC	0.562													T	203472684	C	T	203472684	2	4	364	1	0	0	0	0	0	0	0	1	10964	680	24	2		2	OPTC	1	203472684	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	284325	203472684	45777937	1320	24822											
ZC3H11A	9877	broad.mit.edu	37	chr1	203798692	203798692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcccctcagctgcggagcGttatgaaagtagaaagttcc	10	10	10	11	2	1	2	1	1	0	1	3	3	3	3	3	1	3	4	3	1	4	4	rs142418357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203798692G>A	ENST00000545588.1	+	5	4239	c.412G>A	c.(412-414)Gtt>Att	p.V138I	ZC3H11A_ENST00000367212.3_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367210.1_Missense_Mutation_p.V138I|ZC3H11A_ENST00000332127.4_Missense_Mutation_p.V138I|ZC3H11A_ENST00000367214.1_Missense_Mutation_p.V138I	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	138							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTGCGGAGCGTTATGAAAGT	0.463													A	203798692	G	A	203798692	3	1	364	1	0	0	0	0	1	0	0	0	17661	1145	40	1	426	1	ZC3H11A	1	203798692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326008	203798692	45451929	1321	24823											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819706	203819707	+	Frame_Shift_Ins	INS	-	-	A																															tcatcccccaaattggccccINSaaaacgtaaggcagtggaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819706_203819707insA	ENST00000545588.1	+	15	5830_5831	c.2003_2004insA	c.(2002-2007)ccaaaafs	p.PK668fs	ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.PK668fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.PK668fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	668							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			AAATTGGCCCCAAAACGTAAGG	0.505													A	203819707	-	A	203819706	7	5	364	1	0	1	1	0	0	0	0	0	17661	594	21	0	2057	0	ZC3H11A	1	203819706	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	21014	203819706	45430915	1322	24824											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819731	203819731	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaaggcagtggagatgcaCgctgctgtcattgccgctgt	7	10	14	10	3	1	1	1	0	0	1	1	2	1	1	1	2	3	6	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:203819731C>T	ENST00000545588.1	+	15	5855	c.2028C>T	c.(2026-2028)caC>caT	p.H676H	ZC3H11A_ENST00000367212.3_Silent_p.H676H|ZC3H11A_ENST00000367210.1_Silent_p.H676H|ZC3H11A_ENST00000332127.4_Silent_p.H676H|ZC3H11A_ENST00000367214.1_Silent_p.H676H	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	676							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			TGGAGATGCACGCTGCTGTCA	0.502													T	203819731	C	T	203819731	2	4	364	1	0	0	0	0	0	0	0	1	17661	535	19	1		1	ZC3H11A	1	203819731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25	203819731	45430890	1323	24825											
SOX13	9580	broad.mit.edu	37	chr1	204082138	204082138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagaggagaagaaagagcCttgccacgaggccccccagg	12	3	14	12	1	1	4	1	0	0	4	1	6	1	4	5	3	2	0	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082138C>A	ENST00000367204.1	+	2	204	c.95C>A	c.(94-96)cCt>cAt	p.P32H	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	32					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			AAGAAAGAGCCTTGCCACGAG	0.647													A	204082138	C	A	204082138	3	1	364	1	0	0	0	0	1	0	0	0	15038	681	24	4	97	4	SOX13	1	204082138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262407	204082138	45168483	1324	24826											
SOX13	9580	broad.mit.edu	37	chr1	204082240	204082241	+	Frame_Shift_Ins	INS	-	-	T																															gacccccaagctccagcccaINSggggaatttcaggggctcct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204082240_204082241insT	ENST00000367204.1	+	2	306_307	c.197_198insT	c.(196-201)caggggfs	p.Q66fs	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	66					anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GCTCCAGCCCAGGGGAATTTCA	0.688													T	204082241	-	T	204082240	7	5	364	1	0	1	1	0	0	0	0	0	15038	188	7	0	199	0	SOX13	1	204082240	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	102	204082240	45168381	1325	24827											
ETNK2	55224	broad.mit.edu	37	chr1	204103686	204103686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtactggttctggatgaGggcccagagagcccagaaga	11	6	16	8	0	1	4	0	1	1	3	1	7	1	6	2	4	2	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204103686G>T	ENST00000367199.2	-	6	1248	c.838C>A	c.(838-840)Ctc>Atc	p.L280I	ETNK2_ENST00000367202.4_Missense_Mutation_p.L349I|ETNK2_ENST00000367197.1_Missense_Mutation_p.L31I|ETNK2_ENST00000367201.3_Missense_Mutation_p.P384H|ETNK2_ENST00000367198.2_Missense_Mutation_p.L171I			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	349							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			TTCTGGATGAGGGCCCAGAGA	0.567													T	204103686	G	T	204103686	3	4	364	1	0	0	0	0	1	0	0	0	5315	1000	35	4	123	4	ETNK2	1	204103686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21446	204103686	45146935	1326	24828											
ETNK2	55224	broad.mit.edu	37	chr1	204109171	204109171	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctctcacctgcaaacTcattgaaatggttgccaatg	10	11	7	13	0	2	1	2	1	1	0	3	1	2	1	4	1	4	2	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204109171T>C	ENST00000367199.2	-	4	1063	c.653A>G	c.(652-654)gAg>gGg	p.E218G	ETNK2_ENST00000367202.4_Missense_Mutation_p.E287G|ETNK2_ENST00000367197.1_5'UTR|ETNK2_ENST00000367201.3_Missense_Mutation_p.E287G|ETNK2_ENST00000367198.2_Missense_Mutation_p.E109G|ETNK2_ENST00000477125.1_5'UTR			Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	287							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			ACCTGCAAACTCATTGAAATG	0.443													C	204109171	T	C	204109171	3	2	364	1	0	0	0	0	1	0	0	0	5315	1551	54	3	316	3	ETNK2	1	204109171	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5485	204109171	45141450	1327	24829											
ETNK2	55224	broad.mit.edu	37	chr1	204115784	204115784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtacctggggttgatctcGttcttcacaagcgtgaaata	9	14	10	8	2	3	2	1	2	2	0	4	2	3	2	1	2	2	3	1	2	4	6	rs143999368	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204115784G>A	ENST00000367202.4	-	3	777	c.627C>T	c.(625-627)aaC>aaT	p.N209N	ETNK2_ENST00000367199.2_Intron|ETNK2_ENST00000367201.3_Silent_p.N209N|ETNK2_ENST00000367198.2_Silent_p.N31N	NM_018208.2	NP_060678.2	Q9NVF9	EKI2_HUMAN	ethanolamine kinase 2	209							ATP binding|choline kinase activity|ethanolamine kinase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|ovary(1)	7	all_cancers(21;0.032)|Breast(84;0.116)|all_epithelial(62;0.196)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			GGTTGATCTCGTTCTTCACAA	0.517													A	204115784	G	A	204115784	2	1	364	1	0	0	0	0	0	0	0	1	5315	1136	40	1		1	ETNK2	1	204115784	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6613	204115784	45134837	1328	24830											
LRRN2	10446	broad.mit.edu	37	chr1	204587428	204587428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggccccctggccccGgagggaggaggcactggacc	6	4	17	14	1	0	0	0	0	0	0	0	4	0	4	5	7	1	2	5	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587428G>A	ENST00000367175.1	-	1	3905	c.1693C>T	c.(1693-1695)Cgg>Tgg	p.R565W	LRRN2_ENST00000367177.3_Missense_Mutation_p.R565W|LRRN2_ENST00000367176.3_Missense_Mutation_p.R565W			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	565					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			CCCTGGCCCCGGAGGGAGGAG	0.657													A	204587428	G	A	204587428	3	1	364	1	0	0	0	0	1	0	0	0	9105	1115	39	1	452	1	LRRN2	1	204587428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	471644	204587428	44663193	1329	24831											
LRRN2	10446	broad.mit.edu	37	chr1	204587656	204587656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatagccctgcctcttctgCtgtcaccctccgcagctcca	5	11	7	18	1	3	0	1	0	2	0	5	0	5	0	5	0	4	4	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204587656C>T	ENST00000367175.1	-	1	3677	c.1465G>A	c.(1465-1467)Gca>Aca	p.A489T	LRRN2_ENST00000367177.3_Missense_Mutation_p.A489T|LRRN2_ENST00000367176.3_Missense_Mutation_p.A489T			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	489	Ig-like C2-type.				cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			GCCTCTTCTGCTGTCACCCTC	0.637													T	204587656	C	T	204587656	3	4	364	1	0	0	0	0	1	0	0	0	9105	797	28	2	680	2	LRRN2	1	204587656	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	204587656	44662965	1330	24832											
NFASC	23114	broad.mit.edu	37	chr1	204913447	204913447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agggccaggtgccgaggatgGccaggcagccaccgccgccc	7	2	16	16	3	0	0	0	0	0	0	0	2	0	1	7	5	2	1	7	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204913447G>A	ENST00000367172.4	+	3	332	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	NFASC_ENST00000338586.6_Missense_Mutation_p.A2T|NFASC_ENST00000539706.1_Missense_Mutation_p.A2T|NFASC_ENST00000403080.1_Missense_Mutation_p.A2T|NFASC_ENST00000339876.6_Missense_Mutation_p.A2T|NFASC_ENST00000404076.1_Missense_Mutation_p.A2T|NFASC_ENST00000513543.1_Missense_Mutation_p.A2T|NFASC_ENST00000367169.4_Missense_Mutation_p.A2T|NFASC_ENST00000360049.4_Missense_Mutation_p.A2T|NFASC_ENST00000338515.6_Missense_Mutation_p.A2T|NFASC_ENST00000367171.4_Missense_Mutation_p.A2T|NFASC_ENST00000404907.1_Missense_Mutation_p.A2T|NFASC_ENST00000367170.4_Missense_Mutation_p.A2T|NFASC_ENST00000401399.1_Missense_Mutation_p.A2T			O94856	NFASC_HUMAN	neurofascin	2					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCCGAGGATGGCCAGGCAGCC	0.647													A	204913447	G	A	204913447	3	1	364	1	0	0	0	0	1	0	0	0	10435	1203	42	2	6	2	NFASC	1	204913447	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325791	204913447	44337174	1331	24833											
NFASC	23114	broad.mit.edu	37	chr1	204943842	204943842	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactaccatgtttatgagaaCggcagtctggaaattaagat	15	11	9	6	1	1	2	0	1	1	2	1	4	1	3	1	2	3	2	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:204943842C>T	ENST00000367172.4	+	14	1777	c.1449C>T	c.(1447-1449)aaC>aaT	p.N483N	NFASC_ENST00000338586.6_Silent_p.N483N|NFASC_ENST00000539706.1_Silent_p.N494N|NFASC_ENST00000403080.1_Silent_p.N483N|NFASC_ENST00000339876.6_Silent_p.N483N|NFASC_ENST00000404076.1_Silent_p.N477N|NFASC_ENST00000513543.1_Silent_p.N494N|NFASC_ENST00000367169.4_Silent_p.N483N|NFASC_ENST00000360049.4_Silent_p.N494N|NFASC_ENST00000338515.6_Silent_p.N483N|NFASC_ENST00000367171.4_Silent_p.N483N|NFASC_ENST00000404907.1_Silent_p.N494N|NFASC_ENST00000367170.4_Silent_p.N483N|NFASC_ENST00000401399.1_Silent_p.N483N			O94856	NFASC_HUMAN	neurofascin	483	Ig-like C2-type 5.				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TTTATGAGAACGGCAGTCTGG	0.512													T	204943842	C	T	204943842	2	4	364	1	0	0	0	0	0	0	0	1	10435	535	19	1		1	NFASC	1	204943842	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30395	204943842	44306779	1332	24834											
TMEM81	388730	broad.mit.edu	37	chr1	205053118	205053118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaagcttcctgtccaaactCcaagatgtctgaactcagac	13	9	7	12	0	2	3	1	1	1	2	5	4	5	3	3	0	3	1	3	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205053118C>T	ENST00000367167.3	-	1	527	c.331G>A	c.(331-333)Gag>Aag	p.E111K		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	111	Ig-like.					integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TGTCCAAACTCCAAGATGTCT	0.488													T	205053118	C	T	205053118	3	4	364	1	0	0	0	0	1	0	0	0	16305	864	30	2	440	2	TMEM81	1	205053118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109276	205053118	44197503	1333	24835											
TMCC2	9911	broad.mit.edu	37	chr1	205238741	205238741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccacactcgtctccagcCccaagtatggcagcgatgat	9	8	10	14	2	1	1	0	1	1	0	3	2	1	1	4	1	3	2	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205238741C>A	ENST00000358024.3	+	3	1800	c.1411C>A	c.(1411-1413)Ccc>Acc	p.P471T	TMCC2_ENST00000329800.7_Missense_Mutation_p.P231T|TMCC2_ENST00000545499.1_Missense_Mutation_p.P393T|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Missense_Mutation_p.P246T	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	471						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CGTCTCCAGCCCCAAGTATGG	0.692													A	205238741	C	A	205238741	3	1	364	1	0	0	0	0	1	0	0	0	16093	623	22	4	1421	4	TMCC2	1	205238741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185623	205238741	44011880	1334	24836											
TMCC2	9911	broad.mit.edu	37	chr1	205240997	205240997	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagctgcagcagcaacaGcagcaggtggtacagctgga	11	5	15	10	0	0	0	0	0	0	0	0	2	0	2	0	4	9	8	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205240997G>A	ENST00000358024.3	+	5	2264	c.1875G>A	c.(1873-1875)caG>caA	p.Q625Q	TMCC2_ENST00000329800.7_Silent_p.Q385Q|TMCC2_ENST00000545499.1_Silent_p.Q547Q|TMCC2_ENST00000495538.1_3'UTR|TMCC2_ENST00000330675.7_Silent_p.Q400Q	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	625						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			AGCAGCAACAGCAGCAGGTGG	0.662													A	205240997	G	A	205240997	2	1	364	1	0	0	0	0	0	0	0	1	16093	962	34	2		2	TMCC2	1	205240997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2256	205240997	44009624	1335	24837											
KLHDC8A	55220	broad.mit.edu	37	chr1	205306572	205306572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgcgtcactcagaccCtggttgacacctcccacggc	7	8	8	18	2	2	2	2	1	0	1	4	2	4	2	4	2	1	1	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205306572C>A	ENST00000367156.3	-	9	1824	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	KLHDC8A_ENST00000539253.1_Missense_Mutation_p.Q336H|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.Q202H|KLHDC8A_ENST00000367155.3_Missense_Mutation_p.Q336H|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.Q223H	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	336										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CACTCAGACCCTGGTTGACAC	0.572													A	205306572	C	A	205306572	3	1	364	1	0	0	0	0	1	0	0	0	8420	680	24	4	48	4	KLHDC8A	1	205306572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65575	205306572	43944049	1336	24838											
SLC45A3	85414	broad.mit.edu	37	chr1	205628524	205628524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggggccacctgggacagCaggaaggcactatccaggat	11	5	15	10	0	0	0	0	0	0	0	1	4	1	3	3	6	1	2	3	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628524C>T	ENST00000367145.3	-	5	1795	c.1500G>A	c.(1498-1500)ctG>ctA	p.L500L	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	500					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCTGGGACAGCAGGAAGGCAC	0.637			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	205628524	C	T	205628524	2	4	364	1	0	0	0	0	0	0	0	1	14736	697	25	2		2	SLC45A3	1	205628524	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	321952	205628524	43622097	1337	24839											
SLC45A3	85414	broad.mit.edu	37	chr1	205628647	205628647	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcagaggccccgcagagCgcgggtggaggtgggagcag	8	2	21	10	3	0	2	0	0	0	2	0	4	0	4	2	6	2	3	2	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205628647C>T	ENST00000367145.3	-	5	1672	c.1377G>A	c.(1375-1377)gcG>gcA	p.A459A	SLC45A3_ENST00000460934.1_5'UTR	NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	459					transmembrane transport	integral to membrane		p.A459A(1)	SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CCCCGCAGAGCGCGGGTGGAG	0.682			T	"ETV1, ETV5, ELK4, ERG"	prostate						OREG0014161	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	205628647	C	T	205628647	2	4	364	1	0	0	0	0	0	0	0	1	14736	755	27	1		1	SLC45A3	1	205628647	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123	205628647	43621974	1338	24840											
SLC45A3	85414	broad.mit.edu	37	chr1	205633685	205633685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcacataggtgatgcctgCggccaaacacacctccaggc	10	5	11	15	2	0	1	0	1	0	0	1	1	1	1	4	4	3	1	4	4	2	1	rs149769508	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205633685C>T	ENST00000367145.3	-	2	395	c.100G>A	c.(100-102)Gca>Aca	p.A34T		NM_033102.2	NP_149093.1	Q96JT2	S45A3_HUMAN	solute carrier family 45, member 3	34					transmembrane transport	integral to membrane			SLC45A3/BRAF(2)|SLC45A3/ELK4(18)|SLC45A3/ETV1(3)|SLC45A3/ETV5_ENST00000306376(2)|SLC45A3/ERG(50)	cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(7)|ovary(3)|prostate(5)	21	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			GTGATGCCTGCGGCCAAACAC	0.592			T	"ETV1, ETV5, ELK4, ERG"	prostate								T	205633685	C	T	205633685	3	4	364	1	0	0	0	0	1	0	0	0	14736	768	27	1	1577	1	SLC45A3	1	205633685	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5038	205633685	43616936	1339	24841											
SLC41A1	254428	broad.mit.edu	37	chr1	205767837	205767837	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgatgcctgagagcagCgccaaggtgatgaggtcgcc	9	6	15	11	2	0	4	0	4	0	1	1	5	0	4	3	2	4	2	3	2	1	0	rs143860467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205767837C>T	ENST00000367137.3	-	6	1818	c.804G>A	c.(802-804)gcG>gcA	p.A268A	SLC41A1_ENST00000468057.1_5'UTR	NM_173854.4	NP_776253.3	Q8IVJ1	S41A1_HUMAN	solute carrier family 41 (magnesium transporter), member 1	268						integral to membrane|plasma membrane	magnesium ion transmembrane transporter activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	17	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CTGAGAGCAGCGCCAAGGTGA	0.567													T	205767837	C	T	205767837	2	4	364	1	0	0	0	0	0	0	0	1	14723	755	27	1		1	SLC41A1	1	205767837	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134152	205767837	43482784	1340	24842											
PM20D1	148811	broad.mit.edu	37	chr1	205819191	205819191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcacgcaaacgcaccGctgagccatgcttctctcga	9	6	10	16	4	1	1	0	1	1	0	3	2	1	1	3	1	4	5	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205819191G>A	ENST00000367136.4	-	1	54	c.10C>T	c.(10-12)Cgg>Tgg	p.R4W	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	4						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			CAAACGCACCGCTGAGCCATG	0.592													A	205819191	G	A	205819191	3	1	364	1	0	0	0	0	1	0	0	0	12205	1086	38	1	1550	1	PM20D1	1	205819191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51354	205819191	43431430	1341	24843											
SLC26A9	115019	broad.mit.edu	37	chr1	205904889	205904889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttctcaaactcatcgtcGaagagggtaagggagtatgc	11	11	11	8	2	3	1	2	0	2	1	6	3	3	2	0	2	2	2	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:205904889G>A	ENST00000367135.3	-	2	173	c.60C>T	c.(58-60)ttC>ttT	p.F20F	SLC26A9_ENST00000340781.4_Silent_p.F20F|SLC26A9_ENST00000367134.2_Silent_p.F20F|RP4-681L3.2_ENST00000421166.1_RNA	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	20						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			ACTCATCGTCGAAGAGGGTAA	0.557													A	205904889	G	A	205904889	2	1	364	1	0	0	0	0	0	0	0	1	14618	1049	37	1		1	SLC26A9	1	205904889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85698	205904889	43345732	1342	24844											
AVPR1B	553	broad.mit.edu	37	chr1	206225082	206225082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgttctgccggtgaccatGctcacggcctgctacagcct	5	11	10	15	3	2	1	1	1	1	0	3	1	2	1	4	2	5	3	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206225082G>A	ENST00000367126.4	+	1	1107	c.642G>A	c.(640-642)atG>atA	p.M214I		NM_000707.3	NP_000698.1	P47901	V1BR_HUMAN	arginine vasopressin receptor 1B	214					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)|skin(2)	20			BRCA - Breast invasive adenocarcinoma(75;0.0312)		Desmopressin(DB00035)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGGTGACCATGCTCACGGCCT	0.617													A	206225082	G	A	206225082	3	1	364	1	0	0	0	0	1	0	0	0	1237	1319	46	2	644	2	AVPR1B	1	206225082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320193	206225082	43025539	1343	24845											
C1orf186	440712	broad.mit.edu	37	chr1	206243553	206243553	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcactttcaggaaccaccCtggcacctcgtctctcagta	9	9	8	15	1	3	0	2	0	1	0	5	1	3	1	3	3	1	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206243553C>A	ENST00000331555.5	-	0	588					NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186							integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			AGGAACCACCCTGGCACCTCG	0.557													A	206243553	C	A	206243553	1	1	364	1	0	0	0	0	0	0	0	0	2040	696	24	4		4	C1orf186	1	206243553	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18471	206243553	43007068	1344	24846											
SRGAP2	23380	broad.mit.edu	37	chr1	206619487	206619487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatctgcttcgggccctcGctaatgtcagtgccagaggg	6	9	13	13	2	2	1	1	0	1	1	4	1	2	1	3	2	2	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206619487G>A	ENST00000414007.1	+	14	1521	c.1521G>A	c.(1519-1521)tcG>tcA	p.S507S	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_5'UTR			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	647	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCGGGCCCTCGCTAATGTCAG	0.532													A	206619487	G	A	206619487	2	1	364	1	0	0	0	0	0	0	0	1	15242	1074	38	1		1	SRGAP2	1	206619487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	375934	206619487	42631134	1345	24847											
SRGAP2	23380	broad.mit.edu	37	chr1	206626618	206626618	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgagagctgtcctttaagaAgggagcatccctgctgcttt	8	11	11	11	1	0	2	0	0	0	2	2	4	2	3	3	1	4	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206626618A>C	ENST00000414007.1	+	16	1832	c.1832A>C	c.(1831-1833)aAg>aCg	p.K611T	SRGAP2_ENST00000471256.1_3'UTR|SRGAP2_ENST00000419187.2_Missense_Mutation_p.K56T			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	751	Rho-GAP.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCTTTAAGAAGGGAGCATCC	0.567													C	206626618	A	C	206626618	3	2	364	1	0	0	0	0	1	0	0	0	15242	72	3	5	2058	5	SRGAP2	1	206626618	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7131	206626618	42624003	1346	24848											
SRGAP2	23380	broad.mit.edu	37	chr1	206632041	206632041	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccatgggctgagcagttcCctgactgactcctcctcccc	6	9	9	17	0	0	3	0	3	0	0	4	3	4	3	6	1	2	3	6	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632041C>T	ENST00000414007.1	+	18	2160	c.2160C>T	c.(2158-2160)tcC>tcT	p.S720S	SRGAP2_ENST00000419187.2_Silent_p.S178S			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	860					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TGAGCAGTTCCCTGACTGACT	0.572													T	206632041	C	T	206632041	2	4	364	1	0	0	0	0	0	0	0	1	15242	610	22	2		2	SRGAP2	1	206632041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5423	206632041	42618580	1347	24849											
SRGAP2	23380	broad.mit.edu	37	chr1	206632219	206632219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggatagtccacagatcCggaagactgccacagcggga	11	5	14	11	2	0	2	0	0	0	2	2	5	2	5	3	4	2	1	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206632219C>T	ENST00000414007.1	+	18	2338	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	SRGAP2_ENST00000419187.2_Missense_Mutation_p.R238W			O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	920	SH3.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					TCCACAGATCCGGAAGACTGC	0.552													T	206632219	C	T	206632219	3	4	364	1	0	0	0	0	1	0	0	0	15242	643	23	1	2576	1	SRGAP2	1	206632219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178	206632219	42618402	1348	24850											
SRGAP2	23380	broad.mit.edu	37	chr1	206634618	206634618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacatcgcctgcgccttccgGcctgtcaagtctgtcaagat	7	10	10	14	3	3	1	2	0	1	1	5	2	4	1	4	1	1	0	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206634618G>A	ENST00000414007.1	+	19	2649	c.2649G>A	c.(2647-2649)cgG>cgA	p.R883R				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	1023	Ser-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GCGCCTTCCGGCCTGTCAAGT	0.642													A	206634618	G	A	206634618	2	1	364	1	0	0	0	0	0	0	0	1	15242	1190	42	2		2	SRGAP2	1	206634618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2399	206634618	42616003	1349	24851											
IKBKE	9641	broad.mit.edu	37	chr1	206647680	206647680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccaatggcagaaatccGgagagctggttgctgtgaag	10	8	13	10	1	0	3	0	1	0	2	2	4	2	3	3	3	2	4	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206647680G>A	ENST00000367120.3	+	4	467	c.94G>A	c.(94-96)Gga>Aga	p.G32R	IKBKE_ENST00000463979.1_3'UTR|IKBKE_ENST00000537984.1_5'UTR	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	32	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GCAGAAATCCGGAGAGCTGGT	0.602													A	206647680	G	A	206647680	3	1	364	1	0	0	0	0	1	0	0	0	7670	1117	39	1	100	1	IKBKE	1	206647680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13062	206647680	42602941	1350	24852											
IKBKE	9641	broad.mit.edu	37	chr1	206651588	206651588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttcgaccagttctttGcggagaccagtgacatcctg	7	10	13	11	2	1	2	0	1	1	1	3	4	2	2	3	3	1	2	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206651588G>A	ENST00000367120.3	+	9	1271	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	IKBKE_ENST00000537984.1_Missense_Mutation_p.A215T	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	300	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCAGTTCTTTGCGGAGACCAG	0.602													A	206651588	G	A	206651588	3	1	364	1	0	0	0	0	1	0	0	0	7670	1319	46	2	924	2	IKBKE	1	206651588	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3908	206651588	42599033	1351	24853											
RASSF5	83593	broad.mit.edu	37	chr1	206760238	206760238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacaaaatccaacaagtGcaaaagaagtatgacaagtt	20	6	8	7	0	0	2	0	1	0	1	1	3	1	3	1	1	2	3	1	1	9	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206760238G>A	ENST00000304534.8	+	5	1135	c.726G>A	c.(724-726)gtG>gtA	p.V242V	RASSF5_ENST00000491368.1_3'UTR|RASSF5_ENST00000367117.3_3'UTR|EIF2D_ENST00000472709.2_Intron|RASSF5_ENST00000355294.4_Silent_p.V395V	NM_182665.2	NP_872606.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	395					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			TCCAACAAGTGCAAAAGAAGT	0.502													A	206760238	G	A	206760238	2	1	364	1	0	0	0	0	0	0	0	1	13177	1306	46	2		2	RASSF5	1	206760238	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108650	206760238	42490383	1352	24854											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206902780	206902780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcggtgaggccatccAgtatctgcattcaatcaaca	12	9	9	11	1	3	1	2	1	1	0	5	2	4	1	2	2	3	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206902780A>G	ENST00000367103.3	+	4	717	c.524A>G	c.(523-525)cAg>cGg	p.Q175R	MAPKAPK2_ENST00000294981.4_Missense_Mutation_p.Q175R	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	175	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|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|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			GAGGCCATCCAGTATCTGCAT	0.522													G	206902780	A	G	206902780	3	3	364	1	0	0	0	0	1	0	0	0	9364	188	7	3	538	3	MAPKAPK2	1	206902780	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142542	206902780	42347841	1353	24855											
IL10	3586	broad.mit.edu	37	chr1	206944381	206944381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaactggatcatctcagaCaaggcttggcaacccaggta	14	8	9	10	0	2	1	2	0	1	1	3	2	2	2	1	4	2	3	1	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:206944381C>T	ENST00000423557.1	-	3	307	c.249G>A	c.(247-249)ttG>ttA	p.L83L	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	83					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TCATCTCAGACAAGGCTTGGC	0.562													T	206944381	C	T	206944381	2	4	364	1	0	0	0	0	0	0	0	1	7677	477	17	2		2	IL10	1	206944381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41601	206944381	42306240	1354	24856											
FAIM3	9214	broad.mit.edu	37	chr1	207078478	207078478	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagatggggcatggagccaGggagattcagacacctgggg	11	5	18	7	0	1	3	1	0	0	3	1	6	1	4	2	6	1	1	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207078478G>T	ENST00000367091.3	-	8	1202	c.1059C>A	c.(1057-1059)ccC>ccA	p.P353P	FAIM3_ENST00000528654.1_5'UTR|FAIM3_ENST00000442471.2_Silent_p.P241P|FAIM3_ENST00000420007.2_3'UTR	NM_005449.4	NP_005440.1	O60667	FAIM3_HUMAN	Fas apoptotic inhibitory molecule 3	353					anti-apoptosis|cellular defense response	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(84;0.201)					CATGGAGCCAGGGAGATTCAG	0.512													T	207078478	G	T	207078478	2	4	364	1	0	0	0	0	0	0	0	1	5422	987	35	4		4	FAIM3	1	207078478	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134097	207078478	42172143	1355	24857											
FCAMR	83953	broad.mit.edu	37	chr1	207131913	207131913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggccccagcaggaagaGagtcatcctggagcatcttt	9	8	13	11	0	2	1	1	0	1	1	3	4	3	3	3	4	2	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207131913G>T	ENST00000324852.4	-	8	2156	c.1682C>A	c.(1681-1683)tCt>tAt	p.S561Y	FCAMR_ENST00000450945.2_3'UTR|FCAMR_ENST00000400962.3_3'UTR|FCAMR_ENST00000486178.1_5'UTR	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	516						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						AGCAGGAAGAGAGTCATCCTG	0.527													T	207131913	G	T	207131913	3	4	364	1	0	0	0	0	1	0	0	0	5821	942	33	4	55	4	FCAMR	1	207131913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53435	207131913	42118708	1356	24858											
FCAMR	83953	broad.mit.edu	37	chr1	207140951	207140951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgtggtaaagtgccagCaatgagcctggagtagtcca	12	9	13	7	0	0	2	0	1	0	1	1	3	1	3	3	2	3	3	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207140951C>T	ENST00000324852.4	-	2	559	c.85G>A	c.(85-87)Gct>Act	p.A29T	FCAMR_ENST00000450945.2_Missense_Mutation_p.A29T|FCAMR_ENST00000400962.3_Missense_Mutation_p.A29T	NM_001170631.1	NP_001164102.1	Q8WWV6	FCAMR_HUMAN	Fc receptor, IgA, IgM, high affinity	328						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|stomach(1)	11						aaagtgccagcaatgagcctg	0.443													T	207140951	C	T	207140951	3	4	364	1	0	0	0	0	1	0	0	0	5821	710	25	2	1676	2	FCAMR	1	207140951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9038	207140951	42109670	1357	24859											
C1orf116	79098	broad.mit.edu	37	chr1	207200840	207200840	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagagtattacgtacaGatccagagcgggtggaggtg	11	7	18	5	2	0	3	0	0	0	3	1	6	1	4	1	4	3	2	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207200840G>T	ENST00000359470.5	-	2	353	c.104C>A	c.(103-105)tCt>tAt	p.S35Y	C1orf116_ENST00000461135.2_Intron	NM_023938.5	NP_076427.2	Q9BW04	SARG_HUMAN	chromosome 1 open reading frame 116	35						cytoplasm|plasma membrane	receptor activity	p.S35F(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(4)|stomach(1)	29	Prostate(682;0.19)					ATTACGTACAGATCCAGAGCG	0.637													T	207200840	G	T	207200840	5	4	364	1	0	0	0	0	0	0	1	0	2009	956	33	4	1713	4	C1orf116	1	207200840	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59889	207200840	42049781	1358	24860											
PFKFB2	5208	broad.mit.edu	37	chr1	207240872	207240872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatcaaggtgataaacGtgggccagcgatttttagtc	10	13	10	8	2	2	1	2	1	0	0	3	2	2	1	1	2	2	0	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207240872G>A	ENST00000367080.3	+	9	785	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	PFKFB2_ENST00000367079.2_Missense_Mutation_p.V221M|PFKFB2_ENST00000545806.1_Missense_Mutation_p.V188M|PFKFB2_ENST00000411990.2_Missense_Mutation_p.V123M|PFKFB2_ENST00000541914.1_Missense_Mutation_p.V35M	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	221	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					GGTGATAAACGTGGGCCAGCG	0.428													A	207240872	G	A	207240872	3	1	364	1	0	0	0	0	1	0	0	0	11838	1145	40	1	691	1	PFKFB2	1	207240872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40032	207240872	42009749	1359	24861											
C4BPA	722	broad.mit.edu	37	chr1	207297591	207297591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaatttctacgcatacGgcttttctgtcacctacagc	12	12	6	11	2	3	1	1	0	2	1	3	1	3	1	1	1	4	2	1	1	6	6	rs143323893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207297591G>A	ENST00000367070.3	+	6	780	c.586G>A	c.(586-588)Ggc>Agc	p.G196S		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	196	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						CTACGCATACGGCTTTTCTGT	0.478													A	207297591	G	A	207297591	3	1	364	1	0	0	0	0	1	0	0	0	2271	1116	39	1	604	1	C4BPA	1	207297591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56719	207297591	41953030	1360	24862											
CD55	1604	broad.mit.edu	37	chr1	207499017	207499017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaatggtcagattgatgtaCcaggtggcatattatttggt	11	14	12	4	0	1	2	1	1	0	1	1	3	1	2	1	4	1	2	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207499017C>T	ENST00000367064.3	+	4	787	c.529C>T	c.(529-531)Cca>Tca	p.P177S	CD55_ENST00000367063.2_Missense_Mutation_p.P177S|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367062.4_Missense_Mutation_p.P177S|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367065.5_Missense_Mutation_p.P177S|CD55_ENST00000391921.4_Missense_Mutation_p.P113S|CD55_ENST00000391920.4_Missense_Mutation_p.P177S|CD55_ENST00000314754.8_Missense_Mutation_p.P177S	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	177	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GATTGATGTACCAGGTGGCAT	0.343													T	207499017	C	T	207499017	3	4	364	1	0	0	0	0	1	0	0	0	3054	507	18	2	543	2	CD55	1	207499017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201426	207499017	41751604	1361	24863											
CR2	1380	broad.mit.edu	37	chr1	207643049	207643049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcccctagaaattttttGcccatcacctccccctattc	9	14	2	16	0	1	1	1	0	0	1	4	1	3	1	6	0	1	0	6	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207643049G>A	ENST00000367057.3	+	6	1016	c.827G>A	c.(826-828)tGc>tAc	p.C276Y	CR2_ENST00000485707.1_3'UTR|CR2_ENST00000458541.2_Missense_Mutation_p.C276Y|CR2_ENST00000367058.3_Missense_Mutation_p.C276Y|CR2_ENST00000367059.3_Missense_Mutation_p.C276Y	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	276	Sushi 5.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GAAATTTTTTGCCCATCACCT	0.428													A	207643049	G	A	207643049	3	1	364	1	0	0	0	0	1	0	0	0	3873	1319	46	2	849	2	CR2	1	207643049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144032	207643049	41607572	1362	24864											
CR1	1378	broad.mit.edu	37	chr1	207753865	207753865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctagtgaaatcctGtgatgacttcttgggtcaac	8	16	8	9	0	5	3	1	3	4	0	6	3	6	3	1	1	1	0	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753865G>C	ENST00000367049.4	+	31	5123	c.5123G>C	c.(5122-5124)tGt>tCt	p.C1708S	CR1_ENST00000367053.1_Missense_Mutation_p.C1258S|CR1_ENST00000367052.1_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.C1258S|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Missense_Mutation_p.C1258S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1258	Sushi 26.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GTGAAATCCTGTGATGACTTC	0.433													C	207753865	G	C	207753865	3	2	364	1	0	0	0	0	1	0	0	0	3871	1377	48	4	5245	4	CR1	1	207753865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110816	207753865	41496756	1363	24865											
CR1	1378	broad.mit.edu	37	chr1	207753903	207753903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactccctcatggccgtgtgCtatttccacttaatctccag	8	13	6	14	1	2	0	1	0	1	0	5	0	4	0	4	1	2	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207753903C>T	ENST00000367049.4	+	31	5161	c.5161C>T	c.(5161-5163)Cta>Tta	p.L1721L	CR1_ENST00000367053.1_Silent_p.L1271L|CR1_ENST00000367052.1_Silent_p.L1271L|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367051.1_Silent_p.L1271L|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000400960.2_Silent_p.L1271L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1271	Sushi 27.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TGGCCGTGTGCTATTTCCACT	0.438													T	207753903	C	T	207753903	2	4	364	1	0	0	0	0	0	0	0	1	3871	796	28	2		2	CR1	1	207753903	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38	207753903	41496718	1364	24866											
CD46	4179	broad.mit.edu	37	chr1	207940505	207940505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattgtctgtgacagtaacaGtacttgggatcccccagttc	10	12	9	10	0	1	1	0	1	1	0	3	2	2	2	2	1	2	3	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:207940505G>T	ENST00000358170.2	+	6	977	c.821G>T	c.(820-822)aGt>aTt	p.S274I	CD46_ENST00000480003.1_Missense_Mutation_p.S274I|CD46_ENST00000354848.1_Missense_Mutation_p.S274I|CD46_ENST00000367041.1_Missense_Mutation_p.S274I|CD46_ENST00000361067.1_Missense_Mutation_p.S274I|CD46_ENST00000360212.2_Missense_Mutation_p.S274I|CD46_ENST00000441839.2_Missense_Mutation_p.S274I|CD46_ENST00000322875.4_Missense_Mutation_p.S274I|CD46_ENST00000367047.1_Missense_Mutation_p.S211I|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000367042.1_Missense_Mutation_p.S274I|CD46_ENST00000322918.5_Missense_Mutation_p.S274I|CD46_ENST00000357714.1_Missense_Mutation_p.S274I	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	274	Sushi 4.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GACAGTAACAGTACTTGGGAT	0.363													T	207940505	G	T	207940505	3	4	364	1	0	0	0	0	1	0	0	0	3048	1029	36	4	843	4	CD46	1	207940505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186602	207940505	41310116	1365	24867											
CD34	947	broad.mit.edu	37	chr1	208063122	208063122	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaaaaaactgctaactGtatatgtgcaacaacacaat	22	8	4	7	0	0	0	0	0	0	0	0	0	0	0	0	0	6	3	0	0	11	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208063122G>A	ENST00000367036.3	-	1	715	c.61C>T	c.(61-63)Cag>Tag	p.Q21*	CD34_ENST00000485761.1_Intron|CD34_ENST00000356522.4_Intron|CD34_ENST00000537704.1_Intron|CD34_ENST00000310833.7_Intron			P28906	CD34_HUMAN	CD34 molecule	0					cell-cell adhesion|leukocyte migration|regulation of immune response	integral to membrane	carbohydrate binding			kidney(2)|large_intestine(2)|lung(8)|ovary(1)	13						ACTGCTAACTGTATATGTGCA	0.348													A	208063122	G	A	208063122	4	1	364	1	0	0	0	0	0	1	0	0	3036	1392	48	2		2	CD34	1	208063122	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122617	208063122	41187499	1366	24868											
PLXNA2	5362	broad.mit.edu	37	chr1	208201469	208201469	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattcatgtcctggtcaCtgatggctgggagcttggcg	6	11	15	9	1	2	1	2	1	0	0	3	2	3	2	1	5	1	3	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208201469C>A	ENST00000367033.3	-	31	6231	c.5474G>T	c.(5473-5475)aGt>aTt	p.S1825I	PLXNA2_ENST00000483048.1_5'UTR	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1825					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GTCCTGGTCACTGATGGCTGG	0.567													A	208201469	C	A	208201469	3	1	364	1	0	0	0	0	1	0	0	0	12197	565	20	4	218	4	PLXNA2	1	208201469	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138347	208201469	41049152	1367	24869											
PLXNA2	5362	broad.mit.edu	37	chr1	208206762	208206762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggttcttcaccagatGccacaccttgaccccacttt	8	12	6	15	0	3	2	2	1	1	1	3	2	3	2	5	1	1	1	5	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208206762G>A	ENST00000367033.3	-	28	5714	c.4957C>T	c.(4957-4959)Cat>Tat	p.H1653Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1653					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TTCACCAGATGCCACACCTTG	0.622													A	208206762	G	A	208206762	3	1	364	1	0	0	0	0	1	0	0	0	12197	1319	46	2	747	2	PLXNA2	1	208206762	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5293	208206762	41043859	1368	24870											
PLXNA2	5362	broad.mit.edu	37	chr1	208215490	208215490	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgttctccaggttcttatcGatgaggtcagagagcagctg	8	13	12	8	1	3	2	1	1	2	1	5	4	3	2	1	2	2	4	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215490G>A	ENST00000367033.3	-	22	4996	c.4239C>T	c.(4237-4239)atC>atT	p.I1413I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1413					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGTTCTTATCGATGAGGTCAG	0.612													A	208215490	G	A	208215490	2	1	364	1	0	0	0	0	0	0	0	1	12197	1048	37	1		1	PLXNA2	1	208215490	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8728	208215490	41035131	1369	24871											
PLXNA2	5362	broad.mit.edu	37	chr1	208215502	208215502	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatcgatgaggtcagaGagcagctgcttgaggacatc	10	11	12	8	1	2	3	1	2	1	1	4	6	2	4	0	2	3	3	0	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208215502G>T	ENST00000367033.3	-	22	4984	c.4227C>A	c.(4225-4227)ctC>ctA	p.L1409L		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1409					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		TGAGGTCAGAGAGCAGCTGCT	0.607													T	208215502	G	T	208215502	2	4	364	1	0	0	0	0	0	0	0	1	12197	929	33	4		4	PLXNA2	1	208215502	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	208215502	41035119	1370	24872											
PLXNA2	5362	broad.mit.edu	37	chr1	208217962	208217962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttgtaggcaatgaggacGatgatgacgatgatgaggag	12	8	16	5	3	0	5	0	5	0	0	0	9	0	7	0	3	0	3	0	3	2	2	rs139061737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208217962G>A	ENST00000367033.3	-	20	4522	c.3765C>T	c.(3763-3765)atC>atT	p.I1255I		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1255					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAATGAGGACGATGATGACGA	0.582													A	208217962	G	A	208217962	2	1	364	1	0	0	0	0	0	0	0	1	12197	1048	37	1		1	PLXNA2	1	208217962	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2460	208217962	41032659	1371	24873											
PLXNA2	5362	broad.mit.edu	37	chr1	208219374	208219374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatccaaactcatctgggCgttccacagtgtccaggcca	11	8	8	14	1	2	0	1	0	1	0	5	0	5	0	4	2	1	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208219374C>T	ENST00000367033.3	-	18	4101	c.3344G>A	c.(3343-3345)cGc>cAc	p.R1115H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	1115	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CTCATCTGGGCGTTCCACAGT	0.493													T	208219374	C	T	208219374	3	4	364	1	0	0	0	0	1	0	0	0	12197	768	27	1	2400	1	PLXNA2	1	208219374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1412	208219374	41031247	1372	24874											
PLXNA2	5362	broad.mit.edu	37	chr1	208252614	208252614	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaggacttacctcggtgatTtgagggttggagcacttgac	8	11	14	8	1	0	3	0	3	0	0	1	5	0	5	1	4	2	3	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208252614T>G	ENST00000367033.3	-	12	3334	c.2577A>C	c.(2575-2577)caA>caC	p.Q859H		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	859	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCTCGGTGATTTGAGGGTTGG	0.597													G	208252614	T	G	208252614	3	3	364	1	0	0	0	0	1	0	0	0	12197	1838	64	5	3191	5	PLXNA2	1	208252614	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33240	208252614	40998007	1373	24875											
PLXNA2	5362	broad.mit.edu	37	chr1	208315692	208315692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtctctcagacatgacGtacaggtagcgctgatcaat	11	10	9	11	2	3	3	2	2	1	1	4	3	3	3	1	1	2	3	1	1	3	2	rs149871348	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:208315692G>A	ENST00000367033.3	-	4	2245	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	496	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CAGACATGACGTACAGGTAGC	0.512													A	208315692	G	A	208315692	2	1	364	1	0	0	0	0	0	0	0	1	12197	1140	40	1		1	PLXNA2	1	208315692	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63078	208315692	40934929	1374	24876											
CAMK1G	57172	broad.mit.edu	37	chr1	209778919	209778919	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaccggatcctggagcGgggtgtctacacagagaagg	9	8	15	9	2	1	2	0	1	1	1	2	5	2	4	2	5	2	0	2	5	2	2	rs144255822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209778919G>A	ENST00000009105.1	+	5	580	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	CAMK1G_ENST00000361322.2_Missense_Mutation_p.R112Q			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	112	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		ATCCTGGAGCGGGGTGTCTAC	0.493													A	209778919	G	A	209778919	3	1	364	1	0	0	0	0	1	0	0	0	2624	1116	39	1	349	1	CAMK1G	1	209778919	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1463227	209778919	39471702	1375	24877											
CAMK1G	57172	broad.mit.edu	37	chr1	209779784	209779784	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgtgggaccccaggctaCgtgggtaagtctgggagcag	7	7	17	10	1	1	0	0	0	1	0	1	2	1	2	3	4	2	3	3	4	2	2	rs148684307	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209779784C>T	ENST00000009105.1	+	6	800	c.555C>T	c.(553-555)taC>taT	p.Y185Y	CAMK1G_ENST00000361322.2_Silent_p.Y185Y			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	185	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		CCCCAGGCTACGTGGGTAAGT	0.488													T	209779784	C	T	209779784	2	4	364	1	0	0	0	0	0	0	0	1	2624	547	19	1		1	CAMK1G	1	209779784	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	865	209779784	39470837	1376	24878											
CAMK1G	57172	broad.mit.edu	37	chr1	209781261	209781261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggattgctggtccatcggCgtcatcacctacatattgtg	7	13	11	10	2	2	0	2	0	0	0	4	1	3	1	2	3	2	1	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209781261C>T	ENST00000009105.1	+	7	863	c.618C>T	c.(616-618)ggC>ggT	p.G206G	CAMK1G_ENST00000494990.1_3'UTR|CAMK1G_ENST00000361322.2_Silent_p.G206G			Q96NX5	KCC1G_HUMAN	calcium/calmodulin-dependent protein kinase IG	206	Protein kinase.					Golgi membrane|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|large_intestine(8)|lung(8)|stomach(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.0475)		GGTCCATCGGCGTCATCACCT	0.582													T	209781261	C	T	209781261	2	4	364	1	0	0	0	0	0	0	0	1	2624	755	27	1		1	CAMK1G	1	209781261	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1477	209781261	39469360	1377	24879											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209950737	209950737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagatgaaccaggccctgcGatttttggaaaatgagcacc	13	8	10	10	1	0	3	0	2	0	1	0	5	0	4	3	2	3	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209950737G>A	ENST00000367024.1	+	12	1610	c.1094G>A	c.(1093-1095)cGa>cAa	p.R365Q	TRAF3IP3_ENST00000367025.3_Missense_Mutation_p.R365Q|TRAF3IP3_ENST00000477431.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367023.1_Missense_Mutation_p.R101Q|TRAF3IP3_ENST00000367026.3_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000010338.4_Missense_Mutation_p.R345Q|TRAF3IP3_ENST00000400959.3_Missense_Mutation_p.R345Q			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	365						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		CAGGCCCTGCGATTTTTGGAA	0.537													A	209950737	G	A	209950737	3	1	364	1	0	0	0	0	1	0	0	0	16543	1058	37	1	1132	1	TRAF3IP3	1	209950737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169476	209950737	39299884	1378	24880											
IRF6	3664	broad.mit.edu	37	chr1	209963041	209963041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgagtttcctttccaatgGtttcccatctggccattctt	6	17	7	11	0	2	1	0	1	2	0	5	2	5	1	4	2	0	2	4	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:209963041G>A	ENST00000367021.3	-	8	1322	c.1150C>T	c.(1150-1152)Cca>Tca	p.P384S	IRF6_ENST00000542854.1_Missense_Mutation_p.P289S	NM_006147.3	NP_006138.1	O14896	IRF6_HUMAN	interferon regulatory factor 6	384					cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CTTTCCAATGGTTTCCCATCT	0.463										HNSCC(57;0.16)			A	209963041	G	A	209963041	3	1	364	1	0	0	0	0	1	0	0	0	7892	1261	44	2	261	2	IRF6	1	209963041	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12304	209963041	39287580	1379	24881											
SYT14	255928	broad.mit.edu	37	chr1	210273780	210273780	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatgtcattgcctgtgAtattggaaccttcttacaat	12	14	8	7	0	2	1	1	1	1	0	2	3	2	3	2	2	3	0	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210273780A>G	ENST00000537238.1	+	7	1415	c.1024A>G	c.(1024-1026)Ata>Gta	p.I342V	SYT14_ENST00000534859.1_Missense_Mutation_p.I380V|SYT14_ENST00000271745.7_Intron|SYT14_ENST00000367015.1_Missense_Mutation_p.I342V|SYT14_ENST00000422431.1_Missense_Mutation_p.I425V|SYT14_ENST00000399639.2_Missense_Mutation_p.I380V|SYT14_ENST00000472886.1_Missense_Mutation_p.I380V|SYT14_ENST00000367019.1_Missense_Mutation_p.I380V	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	380	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATTGCCTGTGATATTGGAACC	0.313													G	210273780	A	G	210273780	3	3	364	1	0	0	0	0	1	0	0	0	15567	333	12	3	1299	3	SYT14	1	210273780	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	310739	210273780	38976841	1380	24882											
SYT14	255928	broad.mit.edu	37	chr1	210329132	210329132	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcctcatgtcagtctCttgaacatggctcagttcca	9	13	7	12	0	4	1	3	1	1	0	7	1	6	1	2	1	2	3	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210329132C>A	ENST00000537238.1	+	8	1508	c.1117C>A	c.(1117-1119)Ctt>Att	p.L373I	SYT14_ENST00000534859.1_Missense_Mutation_p.L411I|SYT14_ENST00000271745.7_3'UTR|SYT14_ENST00000367015.1_Missense_Mutation_p.L373I|SYT14_ENST00000422431.1_Missense_Mutation_p.L456I|SYT14_ENST00000399639.2_Missense_Mutation_p.L411I|SYT14_ENST00000472886.1_Missense_Mutation_p.L411I|SYT14_ENST00000367019.1_Missense_Mutation_p.L411I	NM_001256006.1|NM_153262.3	NP_001242935.1|NP_694994.2	Q8NB59	SYT14_HUMAN	synaptotagmin XIV	411	C2 1.					integral to membrane				endometrium(4)|large_intestine(11)|lung(17)|ovary(1)|prostate(1)|skin(3)	37				OV - Ovarian serous cystadenocarcinoma(81;0.085)		ATGTCAGTCTCTTGAACATGG	0.388													A	210329132	C	A	210329132	3	1	364	1	0	0	0	0	1	0	0	0	15567	913	32	4	1396	4	SYT14	1	210329132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55352	210329132	38921489	1381	24883											
HHAT	55733	broad.mit.edu	37	chr1	210796895	210796895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttctccccacaagctcGccgtcgattccacgctgccc	7	9	6	19	4	1	0	0	0	1	0	5	1	2	0	5	0	3	2	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:210796895G>A	ENST00000367010.1	+	11	1498	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	HHAT_ENST00000545154.1_Missense_Mutation_p.R425H|HHAT_ENST00000541565.1_Missense_Mutation_p.R287H|HHAT_ENST00000308852.6_Missense_Mutation_p.R379H|HHAT_ENST00000413764.2_Missense_Mutation_p.R424H|HHAT_ENST00000367009.1_Missense_Mutation_p.R114H|HHAT_ENST00000391905.3_Missense_Mutation_p.R424H|HHAT_ENST00000261458.3_Missense_Mutation_p.R424H|HHAT_ENST00000545781.1_Missense_Mutation_p.R361H|HHAT_ENST00000537898.1_Missense_Mutation_p.R359H	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	424					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CCACAAGCTCGCCGTCGATTC	0.512													A	210796895	G	A	210796895	3	1	364	1	0	0	0	0	1	0	0	0	7144	1087	38	1	1407	1	HHAT	1	210796895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	467763	210796895	38453726	1382	24884											
KCNH1	3756	broad.mit.edu	37	chr1	211093189	211093189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcgctagttggtacaGccagctgttgttgcggattg	6	13	13	9	2	0	0	0	0	0	0	2	1	1	1	2	2	4	6	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211093189G>T	ENST00000367007.4	-	7	1343	c.1174C>A	c.(1174-1176)Ctg>Atg	p.L392M	KCNH1_ENST00000271751.4_Missense_Mutation_p.L419M	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	419					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		AGTTGGTACAGCCAGCTGTTG	0.527													T	211093189	G	T	211093189	3	4	364	1	0	0	0	0	1	0	0	0	8089	962	34	4	1734	4	KCNH1	1	211093189	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296294	211093189	38157432	1383	24885											
RCOR3	55758	broad.mit.edu	37	chr1	211444642	211444642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatatcacagtatcccaGatgccaaatgtaagttttct	12	13	5	11	0	2	1	1	0	1	1	4	1	4	1	3	0	1	3	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211444642G>T	ENST00000367005.4	+	2	259	c.118G>T	c.(118-120)Gat>Tat	p.D40Y	RCOR3_ENST00000367006.4_Missense_Mutation_p.D98Y|RCOR3_ENST00000452621.2_Missense_Mutation_p.D98Y|RCOR3_ENST00000419091.2_Missense_Mutation_p.D98Y	NM_018254.3	NP_060724.1	Q9P2K3	RCOR3_HUMAN	REST corepressor 3	40	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.00961)|all cancers(67;0.0999)|Epithelial(68;0.171)		CAGTATCCCAGATGCCAAATG	0.358													T	211444642	G	T	211444642	3	4	364	1	0	0	0	0	1	0	0	0	13272	942	33	4	302	4	RCOR3	1	211444642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	351453	211444642	37805979	1384	24886											
TRAF5	7188	broad.mit.edu	37	chr1	211533282	211533282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtgcttatttcaacCtgtgcagtgttctaatgaga	10	14	9	8	0	3	1	2	1	1	1	3	2	3	1	1	0	4	4	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211533282C>T	ENST00000261464.5	+	5	461	c.407C>T	c.(406-408)cCt>cTt	p.P136L	TRAF5_ENST00000427925.2_Intron|TRAF5_ENST00000367004.3_Missense_Mutation_p.P136L|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000336184.2_Missense_Mutation_p.P136L	NM_001033910.2	NP_001029082.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	136					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TTATTTCAACCTGTGCAGTGT	0.498													T	211533282	C	T	211533282	3	4	364	1	0	0	0	0	1	0	0	0	16545	681	24	2	421	2	TRAF5	1	211533282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88640	211533282	37717339	1385	24887											
SLC30A1	7779	broad.mit.edu	37	chr1	211749578	211749578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtcaggttctctgacaaGatttccattcacttgtactt	9	16	7	9	0	3	2	2	1	1	1	5	2	4	2	1	2	1	2	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:211749578G>T	ENST00000367001.4	-	2	805	c.676C>A	c.(676-678)Ctt>Att	p.L226I		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	226					cadmium ion transmembrane transport|cellular calcium ion homeostasis|cellular zinc ion homeostasis|negative regulation of calcium ion import|negative regulation of neurotransmitter secretion|negative regulation of zinc ion import	integral to membrane|T-tubule	calcium channel inhibitor activity|zinc ion transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		TCTCTGACAAGATTTCCATTC	0.388													T	211749578	G	T	211749578	3	4	364	1	0	0	0	0	1	0	0	0	14647	942	33	4	851	4	SLC30A1	1	211749578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216296	211749578	37501043	1386	24888											
INTS7	25896	broad.mit.edu	37	chr1	212141864	212141864	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagacatgcctgattggaGatgcgaccacacctctggag	11	9	11	10	1	1	3	0	1	1	2	1	6	1	4	3	2	2	0	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212141864G>T	ENST00000366994.3	-	14	2105	c.2001C>A	c.(1999-2001)atC>atA	p.I667I	INTS7_ENST00000366993.3_Silent_p.I667I|INTS7_ENST00000440600.2_Silent_p.I618I|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Silent_p.I667I	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	667					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		CCTGATTGGAGATGCGACCAC	0.383													T	212141864	G	T	212141864	2	4	364	1	0	0	0	0	0	0	0	1	7841	932	33	4		4	INTS7	1	212141864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	392286	212141864	37108757	1387	24889											
DTL	51514	broad.mit.edu	37	chr1	212254006	212254006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatctggcgcttgaataGaggcttagaggagaaaccag	16	7	12	6	1	1	4	0	1	1	3	1	5	1	4	1	3	1	2	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212254006G>T	ENST00000366991.4	+	13	1489	c.1175G>T	c.(1174-1176)aGa>aTa	p.R392I	DTL_ENST00000542077.1_Missense_Mutation_p.R350I|DTL_ENST00000475419.1_3'UTR	NM_016448.2	NP_057532.2	Q9NZJ0	DTL_HUMAN	denticleless E3 ubiquitin protein ligase homolog (Drosophila)	392					DNA replication|G2/M transition DNA damage checkpoint|protein monoubiquitination|protein polyubiquitination|response to UV|translesion synthesis|ubiquitin-dependent protein catabolic process	centrosome|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|nuclear membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(81;0.00796)|all cancers(67;0.0385)|Epithelial(68;0.102)		CGCTTGAATAGAGGCTTAGAG	0.413													T	212254006	G	T	212254006	3	4	364	1	0	0	0	0	1	0	0	0	4826	942	33	4	1225	4	DTL	1	212254006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112142	212254006	36996615	1388	24890											
NENF	29937	broad.mit.edu	37	chr1	212619202	212619202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaaggaactggaggccCtggatgaggtcttcaccaaa	11	6	13	11	1	2	1	1	1	1	0	2	4	2	4	3	6	1	0	3	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212619202C>A	ENST00000366988.3	+	4	430	c.373C>A	c.(373-375)Ctg>Atg	p.L125M	NENF_ENST00000473900.1_3'UTR	NM_013349.4	NP_037481.1	Q9UMX5	NENF_HUMAN	neudesin neurotrophic factor	125	Cytochrome b5 heme-binding.					extracellular space	heme binding			endometrium(1)|kidney(1)|large_intestine(2)	4				all cancers(67;0.00967)|OV - Ovarian serous cystadenocarcinoma(81;0.0108)|GBM - Glioblastoma multiforme(131;0.0325)|Epithelial(68;0.132)		ACTGGAGGCCCTGGATGAGGT	0.532													A	212619202	C	A	212619202	3	1	364	1	0	0	0	0	1	0	0	0	10411	680	24	4	387	4	NENF	1	212619202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	365196	212619202	36631419	1389	24891											
NSL1	25936	broad.mit.edu	37	chr1	212964948	212964948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttgcacgaagcggccgCacagttgtagcatttcggtc	7	11	12	11	4	0	0	0	0	0	0	2	1	0	0	1	2	3	6	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:212964948C>T	ENST00000366977.3	-	1	176	c.158G>A	c.(157-159)tGc>tAc	p.C53Y	NSL1_ENST00000422588.2_Missense_Mutation_p.C53Y|NSL1_ENST00000366975.6_Missense_Mutation_p.C53Y|NSL1_ENST00000366976.1_Missense_Mutation_p.C53Y|NSL1_ENST00000473995.1_5'UTR	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	53					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		GAAGCGGCCGCACAGTTGTAG	0.637													T	212964948	C	T	212964948	3	4	364	1	0	0	0	0	1	0	0	0	10749	710	25	2	800	2	NSL1	1	212964948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345746	212964948	36285673	1390	24892											
C1orf227	149643	broad.mit.edu	37	chr1	213009370	213009370	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaactctcagtaagctgActtgattgcttcgttccacc	8	15	7	11	1	1	3	1	3	1	0	4	3	2	3	2	0	3	4	2	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213009370A>G	ENST00000332912.3	-	2	229	c.122T>C	c.(121-123)gTc>gCc	p.V41A		NM_001024601.2	NP_001019772.1	Q537H7	CA227_HUMAN	chromosome 1 open reading frame 227	41										kidney(1)|large_intestine(1)|lung(1)	3						CAGTAAGCTGACTTGATTGCT	0.443													G	213009370	A	G	213009370	3	3	364	1	0	0	0	0	1	0	0	0	2054	275	10	3	182	3	C1orf227	1	213009370	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44422	213009370	36241251	1391	24893											
RPS6KC1	26750	broad.mit.edu	37	chr1	213277798	213277798	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttatttaattgtagggCgatttgatgaaactgttatc	11	18	8	4	1	1	2	0	2	1	0	2	3	1	2	0	1	1	2	0	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213277798C>T	ENST00000366960.3	+	4	415	c.265C>T	c.(265-267)Cga>Tga	p.R89*	RPS6KC1_ENST00000543354.1_5'UTR|RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.R77*|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_5'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	89	PX.				cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		AATTGTAGGGCGATTTGATGA	0.393													T	213277798	C	T	213277798	4	4	364	1	0	0	0	0	0	1	0	0	13749	760	27	1	279	1	RPS6KC1	1	213277798	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268428	213277798	35972823	1392	24894											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414375	213414375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaacattatgcaatgaatAtgggcaagaaaagattgaac	18	11	8	4	0	0	4	0	2	0	2	0	4	0	4	0	1	3	2	0	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:213414375A>G	ENST00000366960.3	+	11	1706	c.1556A>G	c.(1555-1557)tAt>tGt	p.Y519C	RPS6KC1_ENST00000543354.1_Missense_Mutation_p.Y222C|RPS6KC1_ENST00000366959.3_Missense_Mutation_p.Y507C|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Missense_Mutation_p.Y307C	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	519					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGCAATGAATATGGGCAAGAA	0.403													G	213414375	A	G	213414375	3	3	364	1	0	0	0	0	1	0	0	0	13749	449	16	3	1598	3	RPS6KC1	1	213414375	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	136577	213414375	35836246	1393	24895											
PROX1	5629	broad.mit.edu	37	chr1	214171247	214171247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctgcctccggccctgccGctggcggccaccaccagccc	4	5	11	21	3	1	0	0	0	1	0	2	0	2	0	8	3	3	1	8	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171247G>A	ENST00000366958.4	+	2	1977	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	PROX1_ENST00000498508.2_Missense_Mutation_p.A457T|PROX1_ENST00000435016.1_Missense_Mutation_p.A457T|PROX1_ENST00000261454.4_Missense_Mutation_p.A457T	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	457				PAA -> LV (in Ref. 1; AAC50656).	aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CGGCCCTGCCGCTGGCGGCCA	0.642													A	214171247	G	A	214171247	3	1	364	1	0	0	0	0	1	0	0	0	12646	1087	38	1	1371	1	PROX1	1	214171247	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	756872	214171247	35079374	1394	24896											
PROX1	5629	broad.mit.edu	37	chr1	214171370	214171370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccatttcagagcccattaGgtgctccctccggctccttc	6	12	7	16	1	1	1	1	0	0	1	6	1	5	1	5	2	2	2	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214171370G>T	ENST00000366958.4	+	2	2100	c.1492G>T	c.(1492-1494)Ggt>Tgt	p.G498C	PROX1_ENST00000498508.2_Missense_Mutation_p.G498C|PROX1_ENST00000435016.1_Missense_Mutation_p.G498C|PROX1_ENST00000261454.4_Missense_Mutation_p.G498C	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	498					aorta smooth muscle tissue morphogenesis|atrial cardiac muscle tissue morphogenesis|brain development|dorsal spinal cord development|embryonic retina morphogenesis in camera-type eye|endocardium formation|hepatocyte differentiation|kidney development|lens fiber cell morphogenesis|lung development|lymphangiogenesis|negative regulation of bile acid biosynthetic process|negative regulation of cell proliferation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of viral genome replication|neural tube development|olfactory placode formation|optic placode formation involved in camera-type eye formation|otic placode formation|pancreas development|positive regulation of cyclin-dependent protein kinase activity|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of heart growth|positive regulation of S phase of mitotic cell cycle|positive regulation of sarcomere organization|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment|skeletal muscle thin filament assembly|venous blood vessel morphogenesis|ventricular cardiac muscle tissue morphogenesis|ventricular cardiac myofibril development|ventricular septum morphogenesis	cytoplasm|nucleus	DBD domain binding|LBD domain binding|ligand-dependent nuclear receptor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		GAGCCCATTAGGTGCTCCCTC	0.562													T	214171370	G	T	214171370	3	4	364	1	0	0	0	0	1	0	0	0	12646	1000	35	4	1494	4	PROX1	1	214171370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123	214171370	35079251	1395	24897											
PTPN14	5784	broad.mit.edu	37	chr1	214546151	214546151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggggcccctgggtggctAtgtagtgccattctgccccg	4	9	15	13	1	1	0	0	0	1	0	1	0	1	0	5	4	2	3	5	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214546151A>G	ENST00000366956.5	-	16	3133	c.2939T>C	c.(2938-2940)aTa>aCa	p.I980T	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	980	Tyrosine-protein phosphatase.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGGGTGGCTATGTAGTGCCA	0.542													G	214546151	A	G	214546151	3	3	364	1	0	0	0	0	1	0	0	0	12869	449	16	3	640	3	PTPN14	1	214546151	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	374781	214546151	34704470	1396	24898											
PTPN14	5784	broad.mit.edu	37	chr1	214556744	214556744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctcttttttgacccgCtccttcacactagtcaggtc	7	13	7	14	1	3	1	2	1	1	0	5	1	4	1	2	2	0	2	2	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214556744C>A	ENST00000366956.5	-	13	2648	c.2454G>T	c.(2452-2454)gaG>gaT	p.E818D	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	818					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TTTTGACCCGCTCCTTCACAC	0.552													A	214556744	C	A	214556744	3	1	364	1	0	0	0	0	1	0	0	0	12869	796	28	4	1137	4	PTPN14	1	214556744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10593	214556744	34693877	1397	24899											
PTPN14	5784	broad.mit.edu	37	chr1	214557133	214557133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtggtgatactgagggaGctgggggacctcgtggctgc	5	10	18	8	1	0	2	0	2	0	0	1	4	0	4	1	5	3	2	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214557133G>A	ENST00000366956.5	-	13	2259	c.2065C>T	c.(2065-2067)Ctc>Ttc	p.L689F	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	689					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TACTGAGGGAGCTGGGGGACC	0.632													A	214557133	G	A	214557133	3	1	364	1	0	0	0	0	1	0	0	0	12869	971	34	2	1526	2	PTPN14	1	214557133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	389	214557133	34693488	1398	24900											
PTPN14	5784	broad.mit.edu	37	chr1	214576228	214576228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctctgcctgccttacctGtgggctttgtgttcttgggc	2	15	11	13	0	2	0	0	0	2	0	2	0	2	0	4	2	3	2	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214576228G>A	ENST00000366956.5	-	6	773	c.579C>T	c.(577-579)caC>caT	p.H193H	PTPN14_ENST00000543945.1_Silent_p.H193H	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	193	FERM.				lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TGCCTTACCTGTGGGCTTTGT	0.532													A	214576228	G	A	214576228	2	1	364	1	0	0	0	0	0	0	0	1	12869	1368	48	2		2	PTPN14	1	214576228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19095	214576228	34674393	1399	24901											
CENPF	1063	broad.mit.edu	37	chr1	214791928	214791928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctaacaggtgtaaatctgaGcttgaaagaagccaacaagc	16	8	9	8	0	2	3	0	2	2	1	2	3	2	3	1	1	5	2	1	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214791928G>T	ENST00000366955.3	+	4	540	c.372G>T	c.(370-372)gaG>gaT	p.E124D		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	124	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GTAAATCTGAGCTTGAAAGAA	0.403													T	214791928	G	T	214791928	3	4	364	1	0	0	0	0	1	0	0	0	3261	962	34	4	382	4	CENPF	1	214791928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215700	214791928	34458693	1400	24902											
CENPF	1063	broad.mit.edu	37	chr1	214794038	214794038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagccaccatgaatcaccGcgacattgcccggcatcagg	12	5	9	15	3	2	1	2	1	0	0	2	2	2	1	4	2	2	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214794038G>A	ENST00000366955.3	+	6	782	c.614G>A	c.(613-615)cGc>cAc	p.R205H		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	205	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		ATGAATCACCGCGACATTGCC	0.428													A	214794038	G	A	214794038	3	1	364	1	0	0	0	0	1	0	0	0	3261	1087	38	1	632	1	CENPF	1	214794038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2110	214794038	34456583	1401	24903											
CENPF	1063	broad.mit.edu	37	chr1	214811346	214811346	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcagaagaaatgaaaggTaagtaaacttagtattttag	17	13	9	2	0	0	3	0	1	0	2	0	3	0	3	0	1	2	4	0	1	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:214811346T>C	ENST00000366955.3	+	11	1750		c.e11+2			NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa						cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AAATGAAAGGTAAGTAAACTT	0.388													C	214811346	T	C	214811346	5	2	364	1	0	0	0	0	0	0	1	0	3261	1652	57	3	1622	3	CENPF	1	214811346	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17308	214811346	34439275	1402	24904											
KCTD3	51133	broad.mit.edu	37	chr1	215793456	215793456	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctacttacggttccatgagGccttacagagaaagtccttt	10	12	9	10	1	0	2	0	1	0	1	2	3	2	2	3	2	3	2	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215793456G>A	ENST00000259154.4	+	18	2238	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	648						voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		GTTCCATGAGGCCTTACAGAG	0.403													A	215793456	G	A	215793456	2	1	364	1	0	0	0	0	0	0	0	1	8168	1194	42	2		2	KCTD3	1	215793456	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	982110	215793456	33457165	1403	24905											
USH2A	7399	broad.mit.edu	37	chr1	215802181	215802181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgttgtggcccatgatgGcttcccacagtgagttgtcc	6	12	11	12	0	0	2	0	2	0	0	2	2	2	2	3	2	0	3	3	2	0	3	rs146892520	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215802181G>A	ENST00000366943.2	-	72	15952	c.15566C>T	c.(15565-15567)gCc>gTc	p.A5189V	USH2A_ENST00000307340.3_Missense_Mutation_p.A5165V			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5165					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)		GCCCATGATGGCTTCCCACAG	0.493										HNSCC(13;0.011)			A	215802181	G	A	215802181	3	1	364	1	0	0	0	0	1	0	0	0	17138	1203	42	2	122	2	USH2A	1	215802181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8725	215802181	33448440	1404	24906											
USH2A	7399	broad.mit.edu	37	chr1	215844346	215844346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgtgaaaggcaatagttCggaatctataaaagatgttg	14	12	10	5	1	2	2	0	1	2	1	3	3	2	3	0	2	0	3	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215844346C>T	ENST00000366943.2	-	64	14487	c.14101G>A	c.(14101-14103)Gaa>Aaa	p.E4701K	USH2A_ENST00000307340.3_Missense_Mutation_p.E4701K			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4701	Fibronectin type-III 32.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.E4701K(1)		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)		GGCAATAGTTCGGAATCTATA	0.363										HNSCC(13;0.011)			T	215844346	C	T	215844346	3	4	364	1	0	0	0	0	1	0	0	0	17138	893	31	1	1543	1	USH2A	1	215844346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42165	215844346	33406275	1405	24907											
USH2A	7399	broad.mit.edu	37	chr1	215847889	215847889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctattgattctgagcctGtgacttgcaatgttggagag	8	16	11	6	0	2	4	0	3	2	1	2	5	2	4	1	1	2	2	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215847889G>A	ENST00000366943.2	-	63	13750	c.13364C>T	c.(13363-13365)aCa>aTa	p.T4455I	USH2A_ENST00000307340.3_Missense_Mutation_p.T4455I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4455	Fibronectin type-III 30.				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)		TTCTGAGCCTGTGACTTGCAA	0.468										HNSCC(13;0.011)			A	215847889	G	A	215847889	3	1	364	1	0	0	0	0	1	0	0	0	17138	1377	48	2	2284	2	USH2A	1	215847889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3543	215847889	33402732	1406	24908											
USH2A	7399	broad.mit.edu	37	chr1	215956253	215956253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatcctgtactcatatGtcatgtagggcttgaggttc	10	13	10	8	0	2	2	2	1	0	1	4	2	3	2	1	2	1	4	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:215956253G>A	ENST00000366943.2	-	53	10798	c.10412C>T	c.(10411-10413)aCa>aTa	p.T3471I	USH2A_ENST00000307340.3_Missense_Mutation_p.T3471I			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3471	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)		GTACTCATATGTCATGTAGGG	0.408										HNSCC(13;0.011)			A	215956253	G	A	215956253	3	1	364	1	0	0	0	0	1	0	0	0	17138	1377	48	2	5276	2	USH2A	1	215956253	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108364	215956253	33294368	1407	24909											
USH2A	7399	broad.mit.edu	37	chr1	216052354	216052354	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaacactgcggaagtcacAttggttaaagtgatgtgagg	12	11	12	6	1	1	2	1	2	0	0	1	3	1	3	0	3	2	1	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216052354A>G	ENST00000366943.2	-	42	8696	c.8310T>C	c.(8308-8310)aaT>aaC	p.N2770N	USH2A_ENST00000307340.3_Silent_p.N2770N			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2770	Fibronectin type-III 14.				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)		CGGAAGTCACATTGGTTAAAG	0.428										HNSCC(13;0.011)			G	216052354	A	G	216052354	2	3	364	1	0	0	0	0	0	0	0	1	17138	214	8	3		3	USH2A	1	216052354	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96101	216052354	33198267	1408	24910											
USH2A	7399	broad.mit.edu	37	chr1	216061838	216061838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggtcgtgagggtcttgtgGtaacttctacccaagcactg	8	11	12	10	1	2	1	0	1	2	0	3	1	2	1	1	3	3	2	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216061838G>A	ENST00000366943.2	-	41	8539	c.8153C>T	c.(8152-8154)aCc>aTc	p.T2718I	USH2A_ENST00000307340.3_Missense_Mutation_p.T2718I|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2718	Fibronectin type-III 13.				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)		GGGTCTTGTGGTAACTTCTAC	0.507										HNSCC(13;0.011)			A	216061838	G	A	216061838	3	1	364	1	0	0	0	0	1	0	0	0	17138	1261	44	2	7583	2	USH2A	1	216061838	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9484	216061838	33188783	1409	24911											
USH2A	7399	broad.mit.edu	37	chr1	216108117	216108117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacttttgtgacattcaGaagggtgtagttattaccta	11	15	9	6	0	1	3	1	2	0	1	1	3	1	3	1	1	1	2	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216108117G>T	ENST00000366943.2	-	38	7527	c.7141C>A	c.(7141-7143)Ctg>Atg	p.L2381M	USH2A_ENST00000307340.3_Missense_Mutation_p.L2381M			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2381	Fibronectin type-III 10.				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)		GTGACATTCAGAAGGGTGTAG	0.323										HNSCC(13;0.011)			T	216108117	G	T	216108117	3	4	364	1	0	0	0	0	1	0	0	0	17138	933	33	4	8607	4	USH2A	1	216108117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46279	216108117	33142504	1410	24912											
USH2A	7399	broad.mit.edu	37	chr1	216166438	216166438	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctttgggggctggcacGccttcgggtatgtcctcgtc	2	12	16	11	3	0	0	0	0	0	0	4	0	1	0	2	5	0	4	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216166438G>A	ENST00000366943.2	-	35	7115	c.6729C>T	c.(6727-6729)ggC>ggT	p.G2243G	USH2A_ENST00000307340.3_Silent_p.G2243G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2243	Fibronectin type-III 9.				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	p.G2243G(1)		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)		GGGCTGGCACGCCTTCGGGTA	0.507										HNSCC(13;0.011)	OREG0014251	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	216166438	G	A	216166438	2	1	364	1	0	0	0	0	0	0	0	1	17138	1074	38	1		1	USH2A	1	216166438	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58321	216166438	33084183	1411	24913											
USH2A	7399	broad.mit.edu	37	chr1	216419934	216419934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctttcttacctggttgAcactgattacaccttcttcc	7	18	4	12	0	3	2	0	2	3	0	4	2	4	2	3	1	2	1	3	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216419934A>G	ENST00000366943.2	-	13	3188	c.2802T>C	c.(2800-2802)tgT>tgC	p.C934C	USH2A_ENST00000366942.3_Silent_p.C934C|USH2A_ENST00000307340.3_Silent_p.C934C			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	934	Laminin EGF-like 8.				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)		TACCTGGTTGACACTGATTAC	0.433										HNSCC(13;0.011)			G	216419934	A	G	216419934	2	3	364	1	0	0	0	0	0	0	0	1	17138	273	10	3		3	USH2A	1	216419934	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	253496	216419934	32830687	1412	24914											
USH2A	7399	broad.mit.edu	37	chr1	216496819	216496819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaattcataataatacctcCcactaatggtgatttcgtcc	14	13	4	10	1	1	1	1	1	0	0	4	1	3	1	3	1	1	0	3	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216496819C>T	ENST00000366943.2	-	8	1933	c.1547G>A	c.(1546-1548)gGg>gAg	p.G516E	USH2A_ENST00000366942.3_Missense_Mutation_p.G516E|USH2A_ENST00000307340.3_Missense_Mutation_p.G516E			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	516	Laminin N-terminal.		G -> V (in USH2A; uncertain pathogenicity).		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)		ATAATACCTCCCACTAATGGT	0.368										HNSCC(13;0.011)			T	216496819	C	T	216496819	3	4	364	1	0	0	0	0	1	0	0	0	17138	623	22	2	14335	2	USH2A	1	216496819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76885	216496819	32753802	1413	24915											
ESRRG	2104	broad.mit.edu	37	chr1	216692559	216692559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccagcttcatgctcttgTatttctttaccagctgcagg	6	17	7	11	0	3	0	1	0	2	0	4	0	4	0	2	1	5	5	2	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216692559T>C	ENST00000391890.3	-	8	1536	c.1019A>G	c.(1018-1020)tAc>tGc	p.Y340C	ESRRG_ENST00000361525.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000366937.1_Missense_Mutation_p.Y368C|ESRRG_ENST00000361395.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000360012.3_Missense_Mutation_p.Y333C|ESRRG_ENST00000487276.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000463665.1_Missense_Mutation_p.Y294C|ESRRG_ENST00000408911.3_Missense_Mutation_p.Y356C|ESRRG_ENST00000366938.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000493603.1_Missense_Mutation_p.Y333C|ESRRG_ENST00000366940.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000359162.2_Missense_Mutation_p.Y333C|ESRRG_ENST00000493748.1_Missense_Mutation_p.Y333C	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	356					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CATGCTCTTGTATTTCTTTAC	0.378													C	216692559	T	C	216692559	3	2	364	1	0	0	0	0	1	0	0	0	5303	1638	57	3	317	3	ESRRG	1	216692559	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	195740	216692559	32558062	1414	24916											
ESRRG	2104	broad.mit.edu	37	chr1	216824353	216824353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttaaacacttcatgaagCggcaagcctggcaggattta	12	11	9	9	1	1	1	1	1	0	0	1	2	1	2	1	3	3	2	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:216824353C>T	ENST00000391890.3	-	5	999	c.482G>A	c.(481-483)cGc>cAc	p.R161H	ESRRG_ENST00000361525.3_Missense_Mutation_p.R161H|ESRRG_ENST00000366937.1_Missense_Mutation_p.R189H|ESRRG_ENST00000361395.2_Missense_Mutation_p.R161H|ESRRG_ENST00000360012.3_Missense_Mutation_p.R161H|ESRRG_ENST00000487276.1_Missense_Mutation_p.R161H|ESRRG_ENST00000463665.1_Intron|ESRRG_ENST00000408911.3_Missense_Mutation_p.R184H|ESRRG_ENST00000366938.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493603.1_Missense_Mutation_p.R161H|ESRRG_ENST00000366940.2_Missense_Mutation_p.R161H|ESRRG_ENST00000359162.2_Missense_Mutation_p.R161H|ESRRG_ENST00000493748.1_Missense_Mutation_p.R161H	NM_001243515.1|NM_001243519.1	NP_001230444.1|NP_001230448.1	P62508	ERR3_HUMAN	estrogen-related receptor gamma	184					positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	AF-2 domain binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(29)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(81;0.0358)|all cancers(67;0.0693)|GBM - Glioblastoma multiforme(131;0.0713)	Diethylstilbestrol(DB00255)	CTTCATGAAGCGGCAAGCCTG	0.448													T	216824353	C	T	216824353	3	4	364	1	0	0	0	0	1	0	0	0	5303	768	27	1	845	1	ESRRG	1	216824353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131794	216824353	32426268	1415	24917											
GPATCH2	55105	broad.mit.edu	37	chr1	217793349	217793349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctacaaccctcaggtggCtgggtcattgtccgtttgtt	5	15	10	11	1	3	0	2	0	1	0	5	0	4	0	2	3	2	3	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217793349C>T	ENST00000366935.3	-	2	659	c.549G>A	c.(547-549)caG>caA	p.Q183Q	GPATCH2_ENST00000366934.3_Silent_p.Q183Q	NM_018040.2	NP_060510.1	Q9NW75	GPTC2_HUMAN	G patch domain containing 2	183						intracellular	nucleic acid binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)|stomach(1)	35				OV - Ovarian serous cystadenocarcinoma(81;0.0397)|all cancers(67;0.0744)|GBM - Glioblastoma multiforme(131;0.0872)		CCTCAGGTGGCTGGGTCATTG	0.433													T	217793349	C	T	217793349	2	4	364	1	0	0	0	0	0	0	0	1	6645	796	28	2		2	GPATCH2	1	217793349	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968996	217793349	31457272	1416	24918											
SPATA17	128153	broad.mit.edu	37	chr1	217975157	217975157	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacaaagaacaattcCgaagtgaaaatcctaagaaa	19	10	5	7	1	1	3	0	1	1	2	3	4	3	3	2	0	2	0	2	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:217975157C>T	ENST00000366933.4	+	9	1025	c.970C>T	c.(970-972)Cga>Tga	p.R324*	SPATA17_ENST00000471021.1_3'UTR	NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	324						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGAACAATTCCGAAGTGAAAA	0.294													T	217975157	C	T	217975157	4	4	364	1	0	0	0	0	0	1	0	0	15098	644	23	1	1004	1	SPATA17	1	217975157	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181808	217975157	31275464	1417	24919											
TGFB2	7042	broad.mit.edu	37	chr1	218609474	218609474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaagcgtgctttggatgCggcctattgctttaggtaaa	10	12	13	6	2	0	1	0	0	0	1	0	3	0	2	1	3	4	3	1	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:218609474C>T	ENST00000366929.4	+	6	1468	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	TGFB2_ENST00000366930.4_Missense_Mutation_p.A306V|TGFB2_ENST00000479322.1_3'UTR	NM_001135599.2	NP_001129071.1	P61812	TGFB2_HUMAN	transforming growth factor, beta 2	306					activation of protein kinase activity|angiogenesis|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cardioblast differentiation|catagen|cell cycle arrest|cell death|cell growth|cell-cell junction organization|cell-cell signaling|collagen fibril organization|dopamine biosynthetic process|embryonic digestive tract development|eye development|glial cell migration|hair follicle morphogenesis|hemopoiesis|menstrual cycle phase|negative regulation of alkaline phosphatase activity|negative regulation of cell growth|negative regulation of epithelial cell proliferation|negative regulation of immune response|negative regulation of macrophage cytokine production|neuron development|neutrophil chemotaxis|odontogenesis|pathway-restricted SMAD protein phosphorylation|platelet activation|platelet degranulation|positive regulation of cardioblast differentiation|positive regulation of catagen|positive regulation of cell adhesion mediated by integrin|positive regulation of cell cycle|positive regulation of cell division|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of epithelial cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of heart contraction|positive regulation of immune response|positive regulation of integrin biosynthetic process|positive regulation of neuron apoptosis|positive regulation of ossification|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein secretion|positive regulation of stress-activated MAPK cascade|regulation of transforming growth factor-beta2 production|response to hypoxia|response to progesterone stimulus|salivary gland morphogenesis|SMAD protein import into nucleus|somatic stem cell division|transforming growth factor beta receptor signaling pathway	axon|extracellular matrix|extracellular space|neuronal cell body|platelet alpha granule lumen	beta-amyloid binding|cytokine activity|growth factor activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling protein serine/threonine kinase activity|type II transforming growth factor beta receptor binding			breast(1)|endometrium(1)|large_intestine(11)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(1)	31				all cancers(67;0.0459)|OV - Ovarian serous cystadenocarcinoma(81;0.049)|GBM - Glioblastoma multiforme(131;0.0776)		GCTTTGGATGCGGCCTATTGC	0.438													T	218609474	C	T	218609474	3	4	364	1	0	0	0	0	1	0	0	0	15918	768	27	1	1023	1	TGFB2	1	218609474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	634317	218609474	30641147	1418	24920											
EPRS	2058	broad.mit.edu	37	chr1	220179606	220179606	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttttcttgtagtctttgtTttccaaattcaactttgcat	7	21	6	7	0	3	0	1	0	2	0	4	0	4	0	1	1	2	4	1	1	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220179606T>G	ENST00000366923.3	-	15	2061	c.1792A>C	c.(1792-1794)Aac>Cac	p.N598H		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	598	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TAGTCTTTGTTTTCCAAATTC	0.353													G	220179606	T	G	220179606	3	3	364	1	0	0	0	0	1	0	0	0	5232	1841	64	5	2818	5	EPRS	1	220179606	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1570132	220179606	29071015	1419	24921											
EPRS	2058	broad.mit.edu	37	chr1	220206995	220206995	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgaactccaaccagtgAtcaatctgtcaacataaaag	16	8	6	11	0	3	2	2	2	1	0	4	2	4	2	2	0	3	1	2	0	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220206995A>G	ENST00000366923.3	-	4	506	c.237T>C	c.(235-237)gaT>gaC	p.D79D		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	79					glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	CCAACCAGTGATCAATCTGTC	0.318													G	220206995	A	G	220206995	2	3	364	1	0	0	0	0	0	0	0	1	5232	330	12	3		3	EPRS	1	220206995	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27389	220206995	29043626	1420	24922											
BPNT1	10380	broad.mit.edu	37	chr1	220246296	220246296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccacttcctcagaaggcaGatcctaaagcagagataacc	15	7	7	12	0	1	3	1	0	0	3	4	4	4	3	4	1	2	2	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220246296G>T	ENST00000469520.2	-	5	678	c.229C>A	c.(229-231)Ctg>Atg	p.L77M	BPNT1_ENST00000414869.2_Intron|BPNT1_ENST00000544404.1_Missense_Mutation_p.L22M|BPNT1_ENST00000354807.3_Missense_Mutation_p.L77M|BPNT1_ENST00000482136.1_Intron|BPNT1_ENST00000322067.7_Missense_Mutation_p.L77M			O95861	BPNT1_HUMAN	3'(2'), 5'-bisphosphate nucleotidase 1	77					3'-phosphoadenosine 5'-phosphosulfate metabolic process|nervous system development|xenobiotic metabolic process	cytosol	3'(2'),5'-bisphosphate nucleotidase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(1)|skin(1)	14				GBM - Glioblastoma multiforme(131;0.0558)		TCAGAAGGCAGATCCTAAAGC	0.413													T	220246296	G	T	220246296	3	4	364	1	0	0	0	0	1	0	0	0	1503	933	33	4	721	4	BPNT1	1	220246296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39301	220246296	29004325	1421	24923											
IARS2	55699	broad.mit.edu	37	chr1	220320874	220320874	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctataaagtaattgTcatgccgactacgaaagaaa	15	11	7	8	2	2	1	1	0	1	1	3	3	3	1	2	0	2	1	2	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220320874T>G	ENST00000366922.1	+	23	3051	c.2720T>G	c.(2719-2721)gTc>gGc	p.V907G	IARS2_ENST00000302637.5_Missense_Mutation_p.V979G			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	979				I -> T (in Ref. 6; BAB14164).	isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AAAGTAATTGTCATGCCGACT	0.388													G	220320874	T	G	220320874	3	3	364	1	0	0	0	0	1	0	0	0	7532	1667	58	5	3026	5	IARS2	1	220320874	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74578	220320874	28929747	1422	24924											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220356155	220356155	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtttttacaggcaacacaCcatctttatcatcagaaaat	15	13	4	9	0	3	1	2	0	1	1	3	1	3	1	1	1	2	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220356155C>A	ENST00000358951.2	-	20	2233	c.2117G>T	c.(2116-2118)gGt>gTt	p.G706V		NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)	706					intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		AGGCAACACACCATCTTTATC	0.353													A	220356155	C	A	220356155	3	1	364	1	0	0	0	0	1	0	0	0	13024	507	18	4	2128	4	RAB3GAP2	1	220356155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35281	220356155	28894466	1423	24925											
MARK1	4139	broad.mit.edu	37	chr1	220804430	220804430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagaggaagaactaaaGccatatactgagcctgatcc	16	7	9	9	0	0	5	0	3	0	2	1	6	1	6	3	1	4	0	3	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:220804430G>A	ENST00000402574.1	+	10	1560	c.558G>A	c.(556-558)aaG>aaA	p.K186K	MARK1_ENST00000366917.4_Silent_p.K321K|MARK1_ENST00000366918.4_Silent_p.K299K	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	321	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		AAGAACTAAAGCCATATACTG	0.378													A	220804430	G	A	220804430	2	1	364	1	0	0	0	0	0	0	0	1	9387	962	34	2		2	MARK1	1	220804430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	448275	220804430	28446191	1424	24926											
HLX	3142	broad.mit.edu	37	chr1	221057895	221057895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagtttcagcttcagcagcgCcagcagtcttagtagcagca	10	10	10	11	1	3	0	2	0	1	0	3	0	3	0	1	0	6	7	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221057895C>T	ENST00000366903.6	+	4	2817	c.1316C>T	c.(1315-1317)gCc>gTc	p.A439V	HLX_ENST00000549319.1_Missense_Mutation_p.A225V	NM_021958.3	NP_068777.1	Q14774	HLX_HUMAN	H2.0-like homeobox	439	Ser-rich.				cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(9)|lung(11)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(131;0.00914)		ttcagcagcgccagcagtctt	0.662													T	221057895	C	T	221057895	3	4	364	1	0	0	0	0	1	0	0	0	7271	739	26	2	1330	2	HLX	1	221057895	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	253465	221057895	28192726	1425	24927											
DUSP10	11221	broad.mit.edu	37	chr1	221879454	221879454	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaatgaactcaaaagccTcttcaaagtactgccgcagg	14	8	7	12	1	3	1	2	1	1	0	3	1	3	1	3	1	5	2	3	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:221879454T>A	ENST00000366899.3	-	3	1404	c.1166A>T	c.(1165-1167)gAg>gTg	p.E389V	DUSP10_ENST00000323825.3_Missense_Mutation_p.E47V|DUSP10_ENST00000544095.1_Missense_Mutation_p.E47V|DUSP10_ENST00000468085.1_5'UTR	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	389	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of JUN kinase activity|negative regulation of stress-activated MAPK cascade	Golgi apparatus|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CTCAAAAGCCTCTTCAAAGTA	0.468													A	221879454	T	A	221879454	3	1	364	1	0	0	0	0	1	0	0	0	4849	1551	54	5	290	5	DUSP10	1	221879454	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	821559	221879454	27371167	1426	24928											
HHIPL2	79802	broad.mit.edu	37	chr1	222713568	222713568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccataggcatagatggCggggtgggcccctggctcag	7	7	16	11	1	1	1	1	0	0	1	2	2	2	1	3	6	0	2	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222713568C>T	ENST00000343410.6	-	4	1292	c.1234G>A	c.(1234-1236)Gcc>Acc	p.A412T		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	412					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		GCATAGATGGCGGGGTGGGCC	0.587													T	222713568	C	T	222713568	3	4	364	1	0	0	0	0	1	0	0	0	7149	768	27	1	964	1	HHIPL2	1	222713568	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	834114	222713568	26537053	1427	24929											
TAF1A	9015	broad.mit.edu	37	chr1	222753158	222753158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaaaagtattgaaactCtccatgttgcttttgggatg	11	15	9	6	0	1	1	0	1	1	0	2	2	1	2	1	1	3	4	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222753158C>A	ENST00000350027.4	-	4	501	c.348G>T	c.(346-348)gaG>gaT	p.E116D	TAF1A_ENST00000391882.1_Missense_Mutation_p.E2D|TAF1A_ENST00000366890.1_Missense_Mutation_p.E2D|TAF1A_ENST00000352967.4_Missense_Mutation_p.E116D|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.E116D	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	116					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		TATTGAAACTCTCCATGTTGC	0.328													A	222753158	C	A	222753158	3	1	364	1	0	0	0	0	1	0	0	0	15616	912	32	4	1036	4	TAF1A	1	222753158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39590	222753158	26497463	1428	24930											
TAF1A	9015	broad.mit.edu	37	chr1	222757525	222757525	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaaggtctgaaaataaCtgtacatgtattctgcagct	12	13	7	9	0	2	1	0	1	2	0	3	1	3	1	1	1	4	4	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222757525C>A	ENST00000350027.4	-	3	389	c.236G>T	c.(235-237)aGt>aTt	p.S79I	TAF1A_ENST00000391882.1_Intron|TAF1A_ENST00000366890.1_Intron|TAF1A_ENST00000352967.4_Missense_Mutation_p.S79I|TAF1A_ENST00000465263.1_5'UTR|TAF1A_ENST00000543857.1_Missense_Mutation_p.S79I	NM_001201536.1	NP_001188465.1	Q15573	TAF1A_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, A, 48kDa	79					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	RNA polymerase I transcription factor complex	DNA binding			kidney(3)|large_intestine(3)|lung(11)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(131;0.0186)		CTGAAAATAACTGTACATGTA	0.408													A	222757525	C	A	222757525	3	1	364	1	0	0	0	0	1	0	0	0	15616	565	20	4	1152	4	TAF1A	1	222757525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4367	222757525	26493096	1429	24931											
MIA3	375056	broad.mit.edu	37	chr1	222801943	222801943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacaaagaagtaaacgcaGaacatcacattaaaggaaaa	23	5	7	6	1	1	3	1	1	0	2	1	4	1	4	0	1	2	2	0	1	9	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222801943G>A	ENST00000344922.5	+	4	1406	c.1381G>A	c.(1381-1383)Gaa>Aaa	p.E461K	MIA3_ENST00000344441.6_Missense_Mutation_p.E461K|MIA3_ENST00000344507.1_Missense_Mutation_p.E461K|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	461					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGTAAACGCAGAACATCACAT	0.393													A	222801943	G	A	222801943	3	1	364	1	0	0	0	0	1	0	0	0	9640	943	33	2	1395	2	MIA3	1	222801943	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44418	222801943	26448678	1430	24932											
MIA3	375056	broad.mit.edu	37	chr1	222802500	222802500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccagagaactggaagaCgaggttcccattctgggaag	11	8	13	9	1	1	2	0	0	1	2	2	6	2	4	2	3	2	1	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222802500C>T	ENST00000344922.5	+	4	1963	c.1938C>T	c.(1936-1938)gaC>gaT	p.D646D	MIA3_ENST00000344441.6_Silent_p.D646D|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	646					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AACTGGAAGACGAGGTTCCCA	0.443													T	222802500	C	T	222802500	2	4	364	1	0	0	0	0	0	0	0	1	9640	535	19	1		1	MIA3	1	222802500	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	557	222802500	26448121	1431	24933											
MIA3	375056	broad.mit.edu	37	chr1	222805573	222805573	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttaatgtgcaggttcCtgaagaacccacccacttgg	12	9	9	11	0	0	3	0	1	0	2	1	3	1	3	3	2	3	2	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222805573C>A	ENST00000344922.5	+	5	3261	c.3236C>A	c.(3235-3237)cCt>cAt	p.P1079H	MIA3_ENST00000344441.6_Missense_Mutation_p.P1079H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000470521.1_3'UTR	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1079					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GTGCAGGTTCCTGAAGAACCC	0.483													A	222805573	C	A	222805573	3	1	364	1	0	0	0	0	1	0	0	0	9640	681	24	4	3254	4	MIA3	1	222805573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3073	222805573	26445048	1432	24934											
MIA3	375056	broad.mit.edu	37	chr1	222838834	222838834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attaccacccccaacccatgGtccccaggaatacccaccac	12	5	4	20	0	0	0	0	0	0	0	1	1	1	1	8	2	3	0	8	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838834G>A	ENST00000344922.5	+	28	5622	c.5597G>A	c.(5596-5598)gGt>gAt	p.G1866D	MIA3_ENST00000340535.7_Missense_Mutation_p.G744D|MIA3_ENST00000344441.6_Missense_Mutation_p.G1866D|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1866	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCAACCCATGGTCCCCAGGAA	0.537													A	222838834	G	A	222838834	3	1	364	1	0	0	0	0	1	0	0	0	9640	1261	44	2	5707	2	MIA3	1	222838834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33261	222838834	26411787	1433	24935											
MIA3	375056	broad.mit.edu	37	chr1	222838933	222838933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagcactagccaggactGttcacaggctttaaaacaga	14	8	9	10	0	2	2	2	0	0	2	2	3	2	3	1	2	3	3	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:222838933G>A	ENST00000344922.5	+	28	5721	c.5696G>A	c.(5695-5697)tGt>tAt	p.C1899Y	MIA3_ENST00000340535.7_Missense_Mutation_p.C777Y|MIA3_ENST00000344441.6_Missense_Mutation_p.C1899Y|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1899					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCAGGACTGTTCACAGGCT	0.473													A	222838933	G	A	222838933	3	1	364	1	0	0	0	0	1	0	0	0	9640	1377	48	2	5806	2	MIA3	1	222838933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	222838933	26411688	1434	24936											
DISP1	84976	broad.mit.edu	37	chr1	223175814	223175814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactgggaaactacatcGccattctgaacaatagatcg	14	8	9	10	2	1	2	0	1	1	1	3	4	1	4	1	2	3	0	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223175814G>A	ENST00000284476.6	+	8	1239	c.1075G>A	c.(1075-1077)Gcc>Acc	p.A359T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	359					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		AAACTACATCGCCATTCTGAA	0.498											OREG0014268|OREG0026708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	223175814	G	A	223175814	3	1	364	1	0	0	0	0	1	0	0	0	4578	1087	38	1	1101	1	DISP1	1	223175814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	336881	223175814	26074807	1435	24937											
DISP1	84976	broad.mit.edu	37	chr1	223176061	223176061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactttatgaccccaaagaCggctgactatgccacgccag	12	7	9	13	2	0	4	0	2	0	2	0	4	0	4	4	1	1	1	4	1	3	3	rs114523965	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223176061C>T	ENST00000284476.6	+	8	1486	c.1322C>T	c.(1321-1323)aCg>aTg	p.T441M		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	441					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCAAAGACGGCTGACTAT	0.458													T	223176061	C	T	223176061	3	4	364	1	0	0	0	0	1	0	0	0	4578	536	19	1	1348	1	DISP1	1	223176061	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	247	223176061	26074560	1436	24938											
SUSD4	55061	broad.mit.edu	37	chr1	223402633	223402633	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaggctgtagccaggatcGcagtaaaactccaccacagt	12	7	11	11	1	0	1	0	1	0	0	2	2	1	2	3	2	2	4	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223402633G>A	ENST00000343846.3	-	5	1455	c.822C>T	c.(820-822)tgC>tgT	p.C274C	SUSD4_ENST00000454695.2_Silent_p.C114C|SUSD4_ENST00000366878.4_Silent_p.C274C|SUSD4_ENST00000484758.2_Silent_p.C205C|SUSD4_ENST00000478605.1_Intron|SUSD4_ENST00000494793.2_Silent_p.C274C			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	274	Sushi 4.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCCAGGATCGCAGTAAAACT	0.512													A	223402633	G	A	223402633	2	1	364	1	0	0	0	0	0	0	0	1	15506	1079	38	1		1	SUSD4	1	223402633	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	226572	223402633	25847988	1437	24939											
SUSD4	55061	broad.mit.edu	37	chr1	223441962	223441962	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgattagcttctctccAtgtctatatgtcttgttatg	7	19	8	7	0	3	2	0	2	3	0	5	2	4	2	1	0	1	2	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:223441962A>G	ENST00000343846.3	-	3	1050	c.417T>C	c.(415-417)caT>caC	p.H139H	SUSD4_ENST00000454695.2_5'UTR|SUSD4_ENST00000344029.6_Silent_p.H139H|SUSD4_ENST00000366878.4_Silent_p.H139H|SUSD4_ENST00000484758.2_Silent_p.H68H|SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000494793.2_Silent_p.H139H			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	139	Sushi 2.					integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		GCTTCTCTCCATGTCTATATG	0.378													G	223441962	A	G	223441962	2	3	364	1	0	0	0	0	0	0	0	1	15506	214	8	3		3	SUSD4	1	223441962	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39329	223441962	25808659	1438	24940											
FBXO28	23219	broad.mit.edu	37	chr1	224340896	224340896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaattctaccagagcccCtcaacgagctcatgaagtac	12	9	7	13	1	4	2	3	1	1	1	4	3	4	2	3	0	5	2	3	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224340896C>A	ENST00000366862.5	+	4	612	c.569C>A	c.(568-570)cCt>cAt	p.P190H	FBXO28_ENST00000424254.2_Intron	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	190										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ACCAGAGCCCCTCAACGAGCT	0.318													A	224340896	C	A	224340896	3	1	364	1	0	0	0	0	1	0	0	0	5787	681	24	4	583	4	FBXO28	1	224340896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	898934	224340896	24909725	1439	24941											
FBXO28	23219	broad.mit.edu	37	chr1	224345333	224345333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgagaagtaatggaaagtgCtgtaggaaattcctcagggt	14	9	13	5	1	1	1	1	0	0	1	2	4	2	3	1	3	1	3	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224345333C>A	ENST00000366862.5	+	5	1035	c.992C>A	c.(991-993)gCt>gAt	p.A331D	FBXO28_ENST00000424254.2_3'UTR	NM_015176.3	NP_055991.1	Q9NVF7	FBX28_HUMAN	F-box protein 28	331										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(2)|skin(1)	10	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.0363)		ATGGAAAGTGCTGTAGGAAAT	0.483													A	224345333	C	A	224345333	3	1	364	1	0	0	0	0	1	0	0	0	5787	797	28	4	1010	4	FBXO28	1	224345333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4437	224345333	24905288	1440	24942											
DEGS1	8560	broad.mit.edu	37	chr1	224380147	224380147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctactcaagaatgaaGaggcaccaaaaaggagagat	18	5	10	8	0	1	4	1	1	0	3	2	6	2	5	2	2	1	1	2	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224380147G>T	ENST00000323699.4	+	3	1105	c.939G>T	c.(937-939)aaG>aaT	p.K313N	DEGS1_ENST00000391877.3_Missense_Mutation_p.K313N	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	313					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		CAAGAATGAAGAGGCACCAAA	0.363													T	224380147	G	T	224380147	3	4	364	1	0	0	0	0	1	0	0	0	4461	933	33	4	949	4	DEGS1	1	224380147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34814	224380147	24870474	1441	24943											
NVL	4931	broad.mit.edu	37	chr1	224477369	224477369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacaaagcctggagttagGtgtgctaagtgacagaaatc	14	8	11	8	0	0	2	0	1	0	1	1	3	0	3	2	2	3	2	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224477369G>A	ENST00000281701.6	-	13	1651	c.1392C>T	c.(1390-1392)caC>caT	p.H464H	NVL_ENST00000482491.1_Silent_p.H188H|NVL_ENST00000340871.4_Silent_p.H275H|NVL_ENST00000391875.2_Silent_p.H358H|NVL_ENST00000361463.3_Silent_p.H358H|NVL_ENST00000469075.1_Silent_p.H373H	NM_002533.3	NP_002524.2	O15381	NVL_HUMAN	nuclear VCP-like	464						aggresome|cytoplasm|nucleolus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(13)|ovary(1)|prostate(1)|skin(4)|soft_tissue(1)|urinary_tract(1)	42				GBM - Glioblastoma multiforme(131;0.00501)		CTGGAGTTAGGTGTGCTAAGT	0.433													A	224477369	G	A	224477369	2	1	364	1	0	0	0	0	0	0	0	1	10856	1252	44	2		2	NVL	1	224477369	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97222	224477369	24773252	1442	24944											
CNIH4	29097	broad.mit.edu	37	chr1	224553644	224553644	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgctcatgtcattgcacTggttcatcttccttctcaac	7	16	5	13	0	5	0	4	0	2	0	7	0	6	0	1	1	4	3	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224553644T>C	ENST00000465271.1	+	3	277	c.202T>C	c.(202-204)Tgg>Cgg	p.W68R	CNIH4_ENST00000366856.3_Missense_Mutation_p.W68R|CNIH4_ENST00000468318.1_3'UTR|CNIH4_ENST00000366858.3_Missense_Mutation_p.W68R|CNIH4_ENST00000366857.5_Missense_Mutation_p.W68R	NM_014184.3	NP_054903.1	Q9P003	CNIH4_HUMAN	cornichon family AMPA receptor auxiliary protein 4	68					intracellular signal transduction	endoplasmic reticulum|integral to membrane	protein binding			kidney(3)|lung(2)|ovary(2)	7				GBM - Glioblastoma multiforme(131;0.00341)		GTCATTGCACTGGTTCATCTT	0.368													C	224553644	T	C	224553644	3	2	364	1	0	0	0	0	1	0	0	0	3636	1580	55	3	212	3	CNIH4	1	224553644	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	76275	224553644	24696977	1443	24945											
CNIH3	149111	broad.mit.edu	37	chr1	224872497	224872497	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttcttgtgcatcctgataGagggaacggttgaggaacat	10	12	12	7	1	1	3	0	2	1	1	2	5	2	5	1	3	3	2	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:224872497G>A	ENST00000272133.3	+	3	1032		c.e3-1			NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3						intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane				large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CATCCTGATAGAGGGAACGGT	0.542													A	224872497	G	A	224872497	5	1	364	1	0	0	0	0	0	0	1	0	3635	956	33	2	160	2	CNIH3	1	224872497	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318853	224872497	24378124	1444	24946											
EPHX1	2052	broad.mit.edu	37	chr1	226026412	226026412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccgcaggccatacccCgaagcccttgctgatggtgc	6	7	12	16	2	0	1	0	1	0	0	0	2	0	1	5	2	5	3	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026412C>T	ENST00000366837.4	+	4	618	c.422C>T	c.(421-423)cCg>cTg	p.P141L	EPHX1_ENST00000272167.5_Missense_Mutation_p.P141L	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	141					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GGCCATACCCCGAAGCCCTTG	0.602													T	226026412	C	T	226026412	3	4	364	1	0	0	0	0	1	0	0	0	5220	652	23	1	432	1	EPHX1	1	226026412	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1153915	226026412	23224209	1445	24947											
EPHX1	2052	broad.mit.edu	37	chr1	226026435	226026435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccttgctgatggtgcacGgctggcccggctctttctac	4	11	12	14	2	2	1	0	1	2	0	2	1	2	1	2	4	4	4	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226026435G>A	ENST00000366837.4	+	4	641	c.445G>A	c.(445-447)Ggc>Agc	p.G149S	EPHX1_ENST00000272167.5_Missense_Mutation_p.G149S	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	149					aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					GATGGTGCACGGCTGGCCCGG	0.582													A	226026435	G	A	226026435	3	1	364	1	0	0	0	0	1	0	0	0	5220	1116	39	1	455	1	EPHX1	1	226026435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23	226026435	23224186	1446	24948											
TMEM63A	9725	broad.mit.edu	37	chr1	226043589	226043589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatactcactccaacctgaTggaggcctccgaggaagttt	11	9	9	12	1	1	1	1	1	0	0	3	4	3	3	4	3	2	1	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226043589T>C	ENST00000366835.3	-	18	1894	c.1624A>G	c.(1624-1626)Atc>Gtc	p.I542V		NM_014698.2	NP_055513.2	O94886	TM63A_HUMAN	transmembrane protein 63A	542						integral to membrane|lysosomal membrane	nucleotide binding			breast(2)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24	Breast(184;0.197)					TCCAACCTGATGGAGGCCTCC	0.522													C	226043589	T	C	226043589	3	2	364	1	0	0	0	0	1	0	0	0	16290	1464	51	3	827	3	TMEM63A	1	226043589	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17154	226043589	23207032	1447	24949											
LEFTY2	7044	broad.mit.edu	37	chr1	226125267	226125267	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgatgctgacgatcatGggcagcgaggcagtctccga	8	9	13	11	3	2	2	1	2	1	0	4	5	3	2	2	2	2	3	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226125267G>T	ENST00000366820.5	-	4	1323	c.975C>A	c.(973-975)ccC>ccA	p.P325P	LEFTY2_ENST00000420304.2_Silent_p.P291P	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	325					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					TGACGATCATGGGCAGCGAGG	0.657													T	226125267	G	T	226125267	2	4	364	1	0	0	0	0	0	0	0	1	8775	1335	47	4		4	LEFTY2	1	226125267	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81678	226125267	23125354	1448	24950											
H3F3A	3020	broad.mit.edu	37	chr1	226259158	226259158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacatccagctagcacgccGcatacgtggagaacgtgctt	11	7	11	12	4	0	2	0	0	0	2	1	3	1	2	2	1	5	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226259158G>A	ENST00000366813.1	+	3	764	c.389G>A	c.(388-390)cGc>cAc	p.R130H	H3F3A_ENST00000366816.1_Missense_Mutation_p.R130H|H3F3A_ENST00000366815.3_Missense_Mutation_p.R130H					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTAGCACGCCGCATACGTGGA	0.403			Mis		glioma								A	226259158	G	A	226259158	3	1	364	1	0	0	0	0	1	0	0	0	6988	1087	38	1	399	1	H3F3A	1	226259158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133891	226259158	22991463	1449	24951											
LIN9	286826	broad.mit.edu	37	chr1	226453982	226453982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaaaaatcgagaaggccGctgtttttgtccaaaggcag	14	9	10	8	2	0	1	0	0	0	1	2	2	1	1	2	2	0	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226453982G>A	ENST00000328205.5	-	9	1461	c.916C>T	c.(916-918)Cgg>Tgg	p.R306W	LIN9_ENST00000481685.1_Missense_Mutation_p.R271W|LIN9_ENST00000366801.1_Missense_Mutation_p.R255W	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	290					cell cycle|DNA replication	nucleoplasm		p.R306W(4)		breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		CGAGAAGGCCGCTGTTTTTGT	0.338													A	226453982	G	A	226453982	3	1	364	1	0	0	0	0	1	0	0	0	8874	1086	38	1	788	1	LIN9	1	226453982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194824	226453982	22796639	1450	24952											
LIN9	286826	broad.mit.edu	37	chr1	226474112	226474112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttttcaaattaggaaaaGattcctttagacatacacag	15	14	6	6	0	1	2	1	0	0	2	2	3	2	3	1	1	1	1	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226474112G>T	ENST00000328205.5	-	6	1039	c.494C>A	c.(493-495)tCt>tAt	p.S165Y	LIN9_ENST00000481685.1_Missense_Mutation_p.S130Y|LIN9_ENST00000366801.1_Missense_Mutation_p.S114Y	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 homolog (C. elegans)	149	Sufficient for interaction with RB1.				cell cycle|DNA replication	nucleoplasm				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		ATTAGGAAAAGATTCCTTTAG	0.313													T	226474112	G	T	226474112	3	4	364	1	0	0	0	0	1	0	0	0	8874	942	33	4	1222	4	LIN9	1	226474112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20130	226474112	22776509	1451	24953											
PARP1	142	broad.mit.edu	37	chr1	226552832	226552832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtaacgctggcattcGccttcacgctctatcttaaa	8	13	8	12	3	3	0	1	0	2	0	4	0	3	0	1	2	1	5	1	2	4	6	rs148631906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226552832G>A	ENST00000366794.5	-	19	2672	c.2529C>T	c.(2527-2529)ggC>ggT	p.G843G	PARP1_ENST00000490921.1_5'UTR	NM_001618.3	NP_001609.2	P09874	PARP1_HUMAN	poly (ADP-ribose) polymerase 1	843	PARP catalytic.				cellular response to insulin stimulus|protein ADP-ribosylation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nuclear envelope|nucleolus|transcription factor complex	DNA binding|identical protein binding|NAD+ ADP-ribosyltransferase activity|protein N-terminus binding|transcription factor binding|zinc ion binding			breast(2)|endometrium(4)|kidney(4)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	44	Breast(184;0.133)			GBM - Glioblastoma multiforme(131;0.0531)		GCTGGCATTCGCCTTCACGCT	0.488								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					A	226552832	G	A	226552832	2	1	364	1	0	0	0	0	0	0	0	1	11530	1074	38	1		1	PARP1	1	226552832	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78720	226552832	22697789	1452	24954											
ITPKB	3707	broad.mit.edu	37	chr1	226822474	226822474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccctcctgccaggggacGtcatgctgcagggtctggcc	4	9	13	15	1	2	0	1	0	1	0	4	1	4	1	5	4	3	2	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226822474G>A	ENST00000429204.1	-	8	3066	c.2739C>T	c.(2737-2739)gaC>gaT	p.D913D	ITPKB_ENST00000272117.3_Silent_p.D913D	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	913							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				GCCAGGGGACGTCATGCTGCA	0.607													A	226822474	G	A	226822474	2	1	364	1	0	0	0	0	0	0	0	1	7976	1136	40	1		1	ITPKB	1	226822474	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269642	226822474	22428147	1453	24955											
ITPKB	3707	broad.mit.edu	37	chr1	226829634	226829634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcaccttgattccctcGatcctgaaccccagggtggc	6	9	10	16	1	1	2	1	2	0	0	4	3	3	2	6	3	1	0	6	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:226829634G>A	ENST00000429204.1	-	5	2766	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	ITPKB_ENST00000272117.3_Silent_p.I813I	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	813							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				TGATTCCCTCGATCCTGAACC	0.657													A	226829634	G	A	226829634	2	1	364	1	0	0	0	0	0	0	0	1	7976	1048	37	1		1	ITPKB	1	226829634	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7160	226829634	22420987	1454	24956											
PSEN2	5664	broad.mit.edu	37	chr1	227071420	227071420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagagaagccaggagaaCgaggaggacggtgaggagga	15	1	18	7	2	0	3	0	1	0	2	0	10	0	7	2	6	2	0	2	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227071420C>T	ENST00000366782.1	+	5	755	c.255C>T	c.(253-255)aaC>aaT	p.N85N	PSEN2_ENST00000340188.4_Silent_p.N52N|PSEN2_ENST00000422240.2_Silent_p.N52N|PSEN2_ENST00000391872.2_Silent_p.N85N|PSEN2_ENST00000366783.3_Silent_p.N52N			P49810	PSN2_HUMAN	presenilin 2 (Alzheimer disease 4)	52					amyloid precursor protein catabolic process|anti-apoptosis|apoptosis|beta-amyloid metabolic process|calcium ion transport|induction of apoptosis by extracellular signals|intracellular signal transduction|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity	apical plasma membrane|axon|cell cortex|cell surface|centrosome|ciliary rootlet|dendritic shaft|endoplasmic reticulum membrane|Golgi membrane|growth cone|integral to plasma membrane|kinetochore|lysosomal membrane|membrane raft|mitochondrial inner membrane|neuromuscular junction|neuronal cell body|nuclear inner membrane|perinuclear region of cytoplasm|Z disc	aspartic-type endopeptidase activity|protein binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|urinary_tract(1)	20		Prostate(94;0.0771)				GCCAGGAGAACGAGGAGGACG	0.592													T	227071420	C	T	227071420	2	4	364	1	0	0	0	0	0	0	0	1	12736	535	19	1		1	PSEN2	1	227071420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	241786	227071420	22179201	1455	24957											
CDC42BPA	8476	broad.mit.edu	37	chr1	227223260	227223260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcaggaggaactggacaaGtggttggagctttgtttaca	10	12	14	5	0	1	0	1	0	0	0	1	4	1	4	0	5	3	4	0	5	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227223260G>T	ENST00000366769.3	-	24	4434	c.3143C>A	c.(3142-3144)aCt>aAt	p.T1048N	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.T1048N|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.T1061N|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.T1028N|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.T1083N|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.T1020N|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.T967N	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1061					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				AACTGGACAAGTGGTTGGAGC	0.378													T	227223260	G	T	227223260	3	4	364	1	0	0	0	0	1	0	0	0	3102	1029	36	4	2068	4	CDC42BPA	1	227223260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151840	227223260	22027361	1456	24958											
CDC42BPA	8476	broad.mit.edu	37	chr1	227300398	227300398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggctctttctgttctgcGcagttcttgccttaagcttt	3	20	8	10	1	4	0	0	0	4	0	4	0	4	0	1	1	3	5	1	1	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227300398G>A	ENST00000366769.3	-	13	3155	c.1864C>T	c.(1864-1866)Cgc>Tgc	p.R622C	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R622C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R622C|CDC42BPA_ENST00000366767.3_Intron	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	622					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				TCTGTTCTGCGCAGTTCTTGC	0.413													A	227300398	G	A	227300398	3	1	364	1	0	0	0	0	1	0	0	0	3102	1087	38	1	3391	1	CDC42BPA	1	227300398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77138	227300398	21950223	1457	24959											
CDC42BPA	8476	broad.mit.edu	37	chr1	227335230	227335230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaggagagatataatCtggagttcctacagccactg	12	11	10	8	0	2	1	1	0	1	1	3	5	3	3	2	2	2	1	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227335230C>A	ENST00000366769.3	-	7	2015	c.724G>T	c.(724-726)Gat>Tat	p.D242Y	CDC42BPA_ENST00000334218.5_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.D242Y|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.D242Y	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	242	Protein kinase.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GAGATATAATCTGGAGTTCCT	0.348													A	227335230	C	A	227335230	3	1	364	1	0	0	0	0	1	0	0	0	3102	913	32	4	4555	4	CDC42BPA	1	227335230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34832	227335230	21915391	1458	24960											
ZNF678	339500	broad.mit.edu	37	chr1	227842667	227842667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagagaaaccctacaaatGcaaagaatgttgcaaagcct	17	7	9	8	0	0	2	0	0	0	2	0	4	0	3	2	1	5	3	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:227842667G>A	ENST00000343776.5	+	4	1061	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	ZNF678_ENST00000608949.1_Intron|ZNF678_ENST00000397097.3_Missense_Mutation_p.C294Y	NM_178549.3	NP_848644.2	F5GXA7	F5GXA7_HUMAN	zinc finger protein 678						regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.C239F(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(7)|pancreas(1)|prostate(1)	24		Prostate(94;0.0885)				CCCTACAAATGCAAAGAATGT	0.388													A	227842667	G	A	227842667	3	1	364	1	0	0	0	0	1	0	0	0	18186	1319	46	2	895	2	ZNF678	1	227842667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507437	227842667	21407954	1459	24961											
PRSS38	339501	broad.mit.edu	37	chr1	228003901	228003901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcctccacgtctgcggcGgctccatcctcaatgagtac	7	8	10	16	3	2	1	1	1	1	0	5	1	5	1	4	3	2	2	4	3	2	1	rs140039939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228003901G>A	ENST00000366757.3	+	2	283	c.259G>A	c.(259-261)Ggc>Agc	p.G87S		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	87	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						CGTCTGCGGCGGCTCCATCCT	0.672													A	228003901	G	A	228003901	3	1	364	1	0	0	0	0	1	0	0	0	12712	1116	39	1	265	1	PRSS38	1	228003901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161234	228003901	21246720	1460	24962											
PRSS38	339501	broad.mit.edu	37	chr1	228004916	228004916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacccccacagggacaaGaatatcaaaatctatgacat	16	8	5	12	0	3	2	2	1	2	1	4	3	3	3	2	1	0	0	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228004916G>T	ENST00000366757.3	+	3	342	c.318G>T	c.(316-318)aaG>aaT	p.K106N		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	106	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						ACAGGGACAAGAATATCAAAA	0.582													T	228004916	G	T	228004916	3	4	364	1	0	0	0	0	1	0	0	0	12712	933	33	4	328	4	PRSS38	1	228004916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1015	228004916	21245705	1461	24963											
PRSS38	339501	broad.mit.edu	37	chr1	228033778	228033778	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtatgccagtgtttcctatTtctcaaaatggatatgtgat	10	17	8	6	0	1	1	1	1	1	0	3	2	2	2	2	1	1	2	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228033778T>G	ENST00000366757.3	+	5	874	c.850T>G	c.(850-852)Ttc>Gtc	p.F284V		NM_183062.2	NP_898885.1	A1L453	PRS38_HUMAN	protease, serine, 38	284	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23						TGTTTCCTATTTCTCAAAATG	0.532													G	228033778	T	G	228033778	3	3	364	1	0	0	0	0	1	0	0	0	12712	1841	64	5	868	5	PRSS38	1	228033778	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28862	228033778	21216843	1462	24964											
WNT3A	89780	broad.mit.edu	37	chr1	228210547	228210547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccagttccgcggccGccggtggaactgcaccaccg	7	4	12	18	5	0	0	0	0	0	0	1	1	1	1	7	3	3	3	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228210547G>A	ENST00000284523.1	+	2	329	c.251G>A	c.(250-252)cGc>cAc	p.R84H	WNT3A_ENST00000366753.2_Missense_Mutation_p.R84H	NM_033131.3	NP_149122.1	P56704	WNT3A_HUMAN	wingless-type MMTV integration site family, member 3A	84					axis specification|cell proliferation in forebrain|cell-cell signaling|cellular response to retinoic acid|convergent extension|dermatome development|dorsal/ventral neural tube patterning|embryonic pattern specification|extracellular matrix organization|hemopoietic stem cell proliferation|hippocampus development|inner ear morphogenesis|mammary gland development|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of neuron projection development|notochord development|palate development|paraxial mesodermal cell fate commitment|positive regulation of catenin import into nucleus|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of receptor internalization|positive regulation of transcription from RNA polymerase II promoter|signalosome assembly|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuroblast division|Wnt receptor signaling pathway, calcium modulating pathway	cell surface|early endosome|extracellular space|late endosome|membrane raft|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|frizzled-2 binding|receptor agonist activity|signal transducer activity|transcription coactivator activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		Prostate(94;0.0405)				TTCCGCGGCCGCCGGTGGAAC	0.637													A	228210547	G	A	228210547	3	1	364	1	0	0	0	0	1	0	0	0	17491	1087	38	1	257	1	WNT3A	1	228210547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176769	228210547	21040074	1463	24965											
ARF1	375	broad.mit.edu	37	chr1	228284846	228284846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttcgccaacctcttcaagGgcctttttggcaaaaaagaa	12	11	7	11	1	3	1	1	0	2	1	4	1	3	1	3	2	1	1	3	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228284846G>A	ENST00000541182.1	+	2	293	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Missense_Mutation_p.G11S|ARF1_ENST00000272102.5_Missense_Mutation_p.G11S	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	11					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTCTTCAAGGGCCTTTTTGG	0.542													A	228284846	G	A	228284846	3	1	364	1	0	0	0	0	1	0	0	0	847	1232	43	2	33	2	ARF1	1	228284846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74299	228284846	20965775	1464	24966											
ARF1	375	broad.mit.edu	37	chr1	228285651	228285651	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaggccacctgcgccacCagcggcgacgggctctatga	8	6	12	15	4	2	1	1	1	1	0	2	2	2	1	4	3	2	1	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228285651C>G	ENST00000541182.1	+	5	745	c.483C>G	c.(481-483)acC>acG	p.T161T	ARF1_ENST00000478424.1_3'UTR|ARF1_ENST00000540651.1_Silent_p.T161T|ARF1_ENST00000272102.5_Silent_p.T161T	NM_001024227.1|NM_001024228.1	NP_001019398.1|NP_001019399.1	P84077	ARF1_HUMAN	ADP-ribosylation factor 1	161					cellular copper ion homeostasis|COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|protein transport|regulation of defense response to virus by virus|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction|viral reproduction	cytosol|Golgi membrane|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity|protein binding|receptor signaling protein activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	10		Prostate(94;0.0405)				CCTGCGCCACCAGCGGCGACG	0.617													G	228285651	C	G	228285651	2	3	364	1	0	0	0	0	0	0	0	1	847	581	21	4		4	ARF1	1	228285651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	805	228285651	20964970	1465	24967											
C1orf35	79169	broad.mit.edu	37	chr1	228288868	228288868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatgccacctgcgagaCgggctcctcctgtccccact	5	9	9	18	2	1	1	1	0	0	1	4	2	4	1	6	1	2	1	6	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228288868C>T	ENST00000272139.4	-	8	990	c.756G>A	c.(754-756)ccG>ccA	p.P252P	C1orf35_ENST00000472617.1_5'UTR	NM_024319.2	NP_077295.1	Q9BU76	MMTA2_HUMAN	chromosome 1 open reading frame 35	252										large_intestine(1)|lung(1)|skin(1)	3		Prostate(94;0.0488)				ACCTGCGAGACGGGCTCCTCC	0.632													T	228288868	C	T	228288868	2	4	364	1	0	0	0	0	0	0	0	1	2059	523	19	1		1	C1orf35	1	228288868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3217	228288868	20961753	1466	24968											
MRPL55	128308	broad.mit.edu	37	chr1	228294577	228294577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacgcttccgcagcctggCccggcgctcctcaggagaca	6	6	11	18	4	2	1	2	0	0	1	4	2	4	1	4	3	1	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228294577C>T	ENST00000366731.5	-	6	1172	c.379G>A	c.(379-381)Gcc>Acc	p.A127T	MRPL55_ENST00000366738.1_Missense_Mutation_p.A127T|MRPL55_ENST00000366732.1_Missense_Mutation_p.A88T|MRPL55_ENST00000366741.1_Missense_Mutation_p.A91T|MRPL55_ENST00000411464.2_Missense_Mutation_p.A91T|MRPL55_ENST00000348259.5_Missense_Mutation_p.A91T|MRPL55_ENST00000366740.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366739.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366747.3_Missense_Mutation_p.A91T|MRPL55_ENST00000295008.4_Missense_Mutation_p.A91T|MRPL55_ENST00000366735.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366736.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366742.1_Missense_Mutation_p.A91T|MRPL55_ENST00000336520.3_Missense_Mutation_p.A91T|MRPL55_ENST00000366744.1_Missense_Mutation_p.A91T|MRPL55_ENST00000366733.1_Missense_Mutation_p.A91T|MRPL55_ENST00000465397.1_5'UTR|MRPL55_ENST00000366734.1_Missense_Mutation_p.A91T|MRPL55_ENST00000391867.3_Missense_Mutation_p.A91T|MRPL55_ENST00000336300.5_Missense_Mutation_p.A91T|MRPL55_ENST00000366746.3_Missense_Mutation_p.A91T|MRPL55_ENST00000430433.1_Missense_Mutation_p.A127T			Q7Z7F7	RM55_HUMAN	mitochondrial ribosomal protein L55	91					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			central_nervous_system(1)|lung(4)	5		Prostate(94;0.0405)				CGCAGCCTGGCCCGGCGCTCC	0.597													T	228294577	C	T	228294577	3	4	364	1	0	0	0	0	1	0	0	0	9895	739	26	2	119	2	MRPL55	1	228294577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5709	228294577	20956044	1467	24969											
OBSCN	84033	broad.mit.edu	37	chr1	228399636	228399636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaccagcagccggtggCggccggcgcgcgcttccgtc	5	4	17	15	7	0	0	0	0	0	0	2	2	1	1	4	5	2	2	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228399636C>T	ENST00000570156.2	+	2	226	c.152C>T	c.(151-153)gCg>gTg	p.A51V	C1orf145_ENST00000295012.5_Intron|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.A51V|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.A51V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	51	Ig-like 1.		A -> T (in dbSNP:rs1771487).		apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGCCGGTGGCGGCCGGCGCG	0.692													T	228399636	C	T	228399636	3	4	364	1	0	0	0	0	1	0	0	0	10888	768	27	1	154	1	OBSCN	1	228399636	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105059	228399636	20850985	1468	24970											
OBSCN	84033	broad.mit.edu	37	chr1	228402554	228402554	+	Missense_Mutation	SNP	C	C	A																															aaaggccaggatggagagttCcgtgattctcagctggtccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402554C>A	ENST00000570156.2	+	5	1657	c.1583C>A	c.(1582-1584)tCc>tAc	p.S528Y	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.S528Y|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.S528Y	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ATGGAGAGTTCCGTGATTCTC	0.597													A	228402554	C	A	228402554	3	1	364	1	0	0	0	0	1	0	0	0	10888	855	30	4	1597	4	OBSCN	1	228402554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2918	228402554	20848067	1469	24971	45	2									
OBSCN	84033	broad.mit.edu	37	chr1	228402555	228402555	+	Silent	SNP	C	C	T																															aaggccaggatggagagttcCgtgattctcagctggtcccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228402555C>T	ENST00000570156.2	+	5	1658	c.1584C>T	c.(1582-1584)tcC>tcT	p.S528S	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.S528S|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Silent_p.S528S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	528	Fibronectin type-III 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGGAGAGTTCCGTGATTCTCA	0.592													T	228402555	C	T	228402555	2	4	364	1	0	0	0	0	0	0	0	1	10888	639	23	1		1	OBSCN	1	228402555	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	228402555	20848066	1470	24972	45	2									
OBSCN	84033	broad.mit.edu	37	chr1	228475655	228475655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttctgccaccctcacaGtgactggtaagtgtctctgt	7	13	8	13	0	3	1	1	1	2	0	4	1	3	1	2	1	2	1	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228475655G>T	ENST00000570156.2	+	41	11166	c.11092G>T	c.(11092-11094)Gtg>Ttg	p.V3698L	OBSCN_ENST00000284548.11_Missense_Mutation_p.V3269L|OBSCN_ENST00000422127.1_Missense_Mutation_p.V3269L|OBSCN_ENST00000366709.4_Missense_Mutation_p.V388L|OBSCN_ENST00000366707.4_Missense_Mutation_p.V388L|OBSCN_ENST00000359599.6_Missense_Mutation_p.V2116L	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2731	Ig-like 37.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CACCCTCACAGTGACTGGTAA	0.602													T	228475655	G	T	228475655	3	4	364	1	0	0	0	0	1	0	0	0	10888	1029	36	4	9943	4	OBSCN	1	228475655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73100	228475655	20774966	1471	24973											
OBSCN	84033	broad.mit.edu	37	chr1	228487104	228487104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatggggacaaatacaGcctgagacaagacggggctg	14	4	15	8	1	0	3	0	1	0	3	0	6	0	4	1	4	2	1	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487104G>A	ENST00000570156.2	+	50	13429	c.13355G>A	c.(13354-13356)aGc>aAc	p.S4452N	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.S1142N|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3495	Ig-like 46.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAAATACAGCCTGAGACAA	0.572													A	228487104	G	A	228487104	3	1	364	1	0	0	0	0	1	0	0	0	10888	986	34	2		2	OBSCN	1	228487104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11449	228487104	20763517	1472	24974											
OBSCN	84033	broad.mit.edu	37	chr1	228487783	228487783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtggcctggtcatagcaGatgctggagaatactcgtgc	8	11	13	9	2	1	2	1	0	0	2	3	3	1	2	1	3	4	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228487783G>T	ENST00000570156.2	+	51	13749	c.13675G>T	c.(13675-13677)Gat>Tat	p.D4559Y	OBSCN_ENST00000284548.11_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.D1249Y|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3602	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGTCATAGCAGATGCTGGAGA	0.557													T	228487783	G	T	228487783	3	4	364	1	0	0	0	0	1	0	0	0	10888	957	33	4		4	OBSCN	1	228487783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	679	228487783	20762838	1473	24975											
OBSCN	84033	broad.mit.edu	37	chr1	228491436	228491436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccacagaaggggccacagCtgtgctgcagtgtgagctga	9	6	16	10	0	0	3	0	2	0	1	0	3	0	3	2	3	4	4	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228491436C>T	ENST00000570156.2	+	52	13873	c.13799C>T	c.(13798-13800)gCt>gTt	p.A4600V	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1290V|OBSCN_ENST00000359599.6_3'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3643	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGCCACAGCTGTGCTGCAG	0.587													T	228491436	C	T	228491436	3	4	364	1	0	0	0	0	1	0	0	0	10888	812	28	2		2	OBSCN	1	228491436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3653	228491436	20759185	1474	24976											
OBSCN	84033	broad.mit.edu	37	chr1	228503696	228503696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacctcggagaacgccgaGgtggtcttcttcgagaacgg	9	7	13	12	5	2	2	0	0	2	2	4	5	2	2	2	4	2	0	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228503696G>T	ENST00000570156.2	+	61	16106	c.16032G>T	c.(16030-16032)gaG>gaT	p.E5344D	OBSCN_ENST00000284548.11_Missense_Mutation_p.E4387D|OBSCN_ENST00000422127.1_Missense_Mutation_p.E4387D|OBSCN_ENST00000366709.4_Missense_Mutation_p.E1506D|OBSCN_ENST00000366707.4_Missense_Mutation_p.E2021D	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4387	Ig-like 50.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGAACGCCGAGGTGGTCTTCT	0.657													T	228503696	G	T	228503696	3	4	364	1	0	0	0	0	1	0	0	0	10888	991	35	4	13355	4	OBSCN	1	228503696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12260	228503696	20746925	1475	24977											
OBSCN	84033	broad.mit.edu	37	chr1	228506846	228506846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggcccgcactggagatgCtgacctctcacacaccagct	8	7	10	16	1	1	2	1	1	1	1	2	3	1	2	3	2	2	4	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228506846C>T	ENST00000570156.2	+	65	17338	c.17264C>T	c.(17263-17265)gCt>gTt	p.A5755V	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4798V|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4798V|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1917V|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2432V	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4798	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGAGATGCTGACCTCTCA	0.647													T	228506846	C	T	228506846	3	4	364	1	0	0	0	0	1	0	0	0	10888	797	28	2	14603	2	OBSCN	1	228506846	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3150	228506846	20743775	1476	24978											
OBSCN	84033	broad.mit.edu	37	chr1	228509327	228509327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggcagatgtgcgaGcccgctggctgaaggatggt	9	6	16	10	2	0	2	0	1	0	1	0	4	0	3	2	4	3	4	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509327G>A	ENST00000570156.2	+	66	17730	c.17656G>A	c.(17656-17658)Gcc>Acc	p.A5886T	OBSCN_ENST00000284548.11_Missense_Mutation_p.A4929T|OBSCN_ENST00000422127.1_Missense_Mutation_p.A4929T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A2048T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2563T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4929					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGTGCGAGCCCGCTGGCT	0.637													A	228509327	G	A	228509327	3	1	364	1	0	0	0	0	1	0	0	0	10888	971	34	2	14999	2	OBSCN	1	228509327	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2481	228509327	20741294	1477	24979											
OBSCN	84033	broad.mit.edu	37	chr1	228509366	228509366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggagctgaccgatgggCggcaccatcacatcgaccag	9	6	14	12	3	1	1	1	1	0	0	2	4	1	2	3	3	1	2	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228509366C>T	ENST00000570156.2	+	66	17769	c.17695C>T	c.(17695-17697)Cgg>Tgg	p.R5899W	OBSCN_ENST00000284548.11_Missense_Mutation_p.R4942W|OBSCN_ENST00000422127.1_Missense_Mutation_p.R4942W|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2061W|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2576W	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4942	PH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACCGATGGGCGGCACCATCA	0.637													T	228509366	C	T	228509366	3	4	364	1	0	0	0	0	1	0	0	0	10888	759	27	1	15038	1	OBSCN	1	228509366	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	228509366	20741255	1478	24980											
OBSCN	84033	broad.mit.edu	37	chr1	228524811	228524811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcactgagatggtatcGgccaagatcacgcagggtga	12	7	13	9	2	2	4	2	2	0	3	3	5	2	4	1	3	0	2	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228524811G>A	ENST00000570156.2	+	76	19589	c.19515G>A	c.(19513-19515)tcG>tcA	p.S6505S	OBSCN_ENST00000284548.11_Silent_p.S5548S|OBSCN_ENST00000422127.1_Silent_p.S5548S|OBSCN_ENST00000366709.4_Silent_p.S2667S|OBSCN_ENST00000366707.4_Silent_p.S3182S	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5548	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGATGGTATCGGCCAAGATCA	0.642													A	228524811	G	A	228524811	2	1	364	1	0	0	0	0	0	0	0	1	10888	1103	39	1		1	OBSCN	1	228524811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15445	228524811	20725810	1479	24981											
OBSCN	84033	broad.mit.edu	37	chr1	228528510	228528510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtctgccctgccacagcGcgctgagaacaagctgcacg	8	6	13	14	3	1	1	0	1	1	1	1	2	1	1	2	1	6	3	2	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228528510G>A	ENST00000570156.2	+	83	20563	c.20489G>A	c.(20488-20490)cGc>cAc	p.R6830H	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5873H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5873H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R2992H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3507H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5873					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGCCACAGCGCGCTGAGAAC	0.687													A	228528510	G	A	228528510	3	1	364	1	0	0	0	0	1	0	0	0	10888	1087	38	1	17900	1	OBSCN	1	228528510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3699	228528510	20722111	1480	24982											
OBSCN	84033	broad.mit.edu	37	chr1	228543886	228543886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaagtccccaagaaaacCgtcatcatgtaagtgcaggc	15	7	8	11	1	2	1	2	0	0	1	3	1	3	1	3	1	2	2	3	1	6	2	rs146933748	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228543886C>T	ENST00000284548.11	+	80	18770	c.18696C>T	c.(18694-18696)acC>acT	p.T6232T	OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000366709.4_Silent_p.T3351T|OBSCN_ENST00000366707.4_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6232					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCAAGAAAACCGTCATCATGT	0.537													T	228543886	C	T	228543886	2	4	364	1	0	0	0	0	0	0	0	1	10888	639	23	1		1	OBSCN	1	228543886	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15376	228543886	20706735	1481	24983											
TRIM17	51127	broad.mit.edu	37	chr1	228598777	228598777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtctcctcttcttccGtctccagagcctggaggagc	5	11	11	14	1	4	1	0	0	4	1	7	3	5	3	4	3	2	1	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228598777G>A	ENST00000366697.2	-	3	1582	c.626C>T	c.(625-627)aCg>aTg	p.T209M	TRIM17_ENST00000366698.2_Missense_Mutation_p.T209M|TRIM17_ENST00000456946.2_Missense_Mutation_p.T209M|TRIM17_ENST00000295033.3_Missense_Mutation_p.T209M			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	209					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				CTCTTCTTCCGTCTCCAGAGC	0.617													A	228598777	G	A	228598777	3	1	364	1	0	0	0	0	1	0	0	0	16594	1145	40	1	972	1	TRIM17	1	228598777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54891	228598777	20651844	1482	24984											
TRIM17	51127	broad.mit.edu	37	chr1	228602720	228602720	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaagtaatccagacaGatggagcacgtagcttcctc	11	10	10	10	1	1	3	0	1	1	2	4	4	3	4	2	1	2	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:228602720G>T	ENST00000366697.2	-	1	1010	c.54C>A	c.(52-54)atC>atA	p.I18I	TRIM17_ENST00000366698.2_Silent_p.I18I|TRIM17_ENST00000456946.2_Silent_p.I18I|TRIM17_ENST00000295033.3_Silent_p.I18I			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	18					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				AATCCAGACAGATGGAGCACG	0.587													T	228602720	G	T	228602720	2	4	364	1	0	0	0	0	0	0	0	1	16594	932	33	4		4	TRIM17	1	228602720	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3943	228602720	20647901	1483	24985											
NUP133	55746	broad.mit.edu	37	chr1	229588289	229588289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaccaatgagttgtggtgCagtcaatactggcatcgcac	11	10	10	10	1	1	1	1	1	0	0	2	1	1	1	1	2	3	4	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229588289C>T	ENST00000261396.3	-	22	3173	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	NUP133_ENST00000537506.1_Missense_Mutation_p.A1012T	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	1028					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				AGTTGTGGTGCAGTCAATACT	0.448													T	229588289	C	T	229588289	3	4	364	1	0	0	0	0	1	0	0	0	10830	710	25	2	408	2	NUP133	1	229588289	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	985569	229588289	19662332	1484	24986											
NUP133	55746	broad.mit.edu	37	chr1	229596379	229596379	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctaattcttggctattAatttcatgtaaccagctgag	10	18	6	7	0	3	1	1	1	2	0	3	1	3	1	1	1	2	3	1	1	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229596379A>G	ENST00000261396.3	-	20	2914	c.2823T>C	c.(2821-2823)atT>atC	p.I941I	NUP133_ENST00000537506.1_Silent_p.I925I	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	941					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTTGGCTATTAATTTCATGTA	0.328													G	229596379	A	G	229596379	2	3	364	1	0	0	0	0	0	0	0	1	10830	358	13	3		3	NUP133	1	229596379	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8090	229596379	19654242	1485	24987											
NUP133	55746	broad.mit.edu	37	chr1	229623232	229623232	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtgcattaaagacaatTttctcctggggaagagaaaa	14	11	9	7	0	1	2	0	0	1	2	2	4	1	3	2	2	1	1	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229623232T>C	ENST00000261396.3	-	10	1414	c.1323A>G	c.(1321-1323)aaA>aaG	p.K441K	NUP133_ENST00000537506.1_Silent_p.K425K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	441					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TAAAGACAATTTTCTCCTGGG	0.413													C	229623232	T	C	229623232	2	2	364	1	0	0	0	0	0	0	0	1	10830	1838	64	3		3	NUP133	1	229623232	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26853	229623232	19627389	1486	24988											
TAF5L	27097	broad.mit.edu	37	chr1	229738320	229738320	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcttggcaggctgcacGtcaagatgaatatgtaaggt	10	12	12	7	1	2	2	1	1	1	1	3	2	2	2	0	3	1	5	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738320G>A	ENST00000366675.3	-	4	682	c.594C>T	c.(592-594)gaC>gaT	p.D198D	TAF5L_ENST00000366676.1_Silent_p.D198D|TAF5L_ENST00000258281.2_Silent_p.D198D	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	198					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGGCTGCACGTCAAGATGAA	0.527													A	229738320	G	A	229738320	2	1	364	1	0	0	0	0	0	0	0	1	15626	1136	40	1		1	TAF5L	1	229738320	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	115088	229738320	19512301	1487	24989											
TAF5L	27097	broad.mit.edu	37	chr1	229738582	229738582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccactgtgctcttcggaCtgttttggaccaggttgaga	6	15	11	9	1	1	1	0	1	1	1	3	4	2	3	2	3	1	3	2	3	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229738582C>T	ENST00000366675.3	-	4	420	c.332G>A	c.(331-333)aGt>aAt	p.S111N	TAF5L_ENST00000366676.1_Missense_Mutation_p.S111N|TAF5L_ENST00000258281.2_Missense_Mutation_p.S111N	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	111					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				GCTCTTCGGACTGTTTTGGAC	0.453													T	229738582	C	T	229738582	3	4	364	1	0	0	0	0	1	0	0	0	15626	565	20	2	1451	2	TAF5L	1	229738582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262	229738582	19512039	1488	24990											
TAF5L	27097	broad.mit.edu	37	chr1	229745874	229745874	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagaaaattccgcagtcGtccaaactgtacttcatatt	13	12	7	9	2	1	1	1	1	0	1	4	2	3	1	2	0	2	2	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229745874G>A	ENST00000366675.3	-	3	314	c.226C>T	c.(226-228)Cga>Tga	p.R76*	TAF5L_ENST00000477957.1_5'UTR|TAF5L_ENST00000366676.1_Nonsense_Mutation_p.R76*|TAF5L_ENST00000258281.2_Nonsense_Mutation_p.R76*	NM_001025247.1	NP_001020418.1	O75529	TAF5L_HUMAN	TAF5-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	76					histone H3 acetylation|transcription from RNA polymerase II promoter	STAGA complex|transcription factor TFTC complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)	11	Breast(184;0.193)|Ovarian(103;0.249)	Prostate(94;0.167)				TTCCGCAGTCGTCCAAACTGT	0.443													A	229745874	G	A	229745874	4	1	364	1	0	0	0	0	0	1	0	0	15626	1153	40	1	1561	1	TAF5L	1	229745874	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7292	229745874	19504747	1489	24991											
URB2	9816	broad.mit.edu	37	chr1	229763385	229763385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagataaagcctagccatggCtgctgtttattctggcattt	9	15	9	8	0	1	1	0	0	1	1	1	1	1	1	2	2	3	4	2	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229763385C>T	ENST00000258243.2	+	2	141	c.5C>T	c.(4-6)gCt>gTt	p.A2V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	2						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTAGCCATGGCTGCTGTTTAT	0.378													T	229763385	C	T	229763385	3	4	364	1	0	0	0	0	1	0	0	0	17127	797	28	2	7	2	URB2	1	229763385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17511	229763385	19487236	1490	24992											
URB2	9816	broad.mit.edu	37	chr1	229773414	229773414	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatccaaatgaagctgagCttggtgctcaattttagaaa	13	12	8	8	0	2	3	2	2	0	1	3	3	3	3	1	1	3	3	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229773414C>A	ENST00000258243.2	+	4	3190	c.3054C>A	c.(3052-3054)agC>agA	p.S1018R		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1018						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGAAGCTGAGCTTGGTGCTCA	0.453													A	229773414	C	A	229773414	3	1	364	1	0	0	0	0	1	0	0	0	17127	796	28	4	3064	4	URB2	1	229773414	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10029	229773414	19477207	1491	24993											
URB2	9816	broad.mit.edu	37	chr1	229779332	229779332	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagcctcatttgggagcCttgttcacccaaatgttaga	10	13	9	9	0	2	2	2	1	0	1	2	3	2	3	3	1	2	2	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229779332C>A	ENST00000258243.2	+	5	3823	c.3687C>A	c.(3685-3687)gcC>gcA	p.A1229A		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1229						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ATTTGGGAGCCTTGTTCACCC	0.453													A	229779332	C	A	229779332	2	1	364	1	0	0	0	0	0	0	0	1	17127	668	24	4		4	URB2	1	229779332	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5918	229779332	19471289	1492	24994											
URB2	9816	broad.mit.edu	37	chr1	229794945	229794945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagttcctgcgggcctcGctgcagccgggaatgagaga	7	7	15	12	3	0	2	0	1	0	1	3	4	2	3	4	2	3	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794945G>A	ENST00000258243.2	+	10	4612	c.4476G>A	c.(4474-4476)tcG>tcA	p.S1492S		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1492						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TGCGGGCCTCGCTGCAGCCGG	0.502													A	229794945	G	A	229794945	2	1	364	1	0	0	0	0	0	0	0	1	17127	1074	38	1		1	URB2	1	229794945	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15613	229794945	19455676	1493	24995											
URB2	9816	broad.mit.edu	37	chr1	229794981	229794981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagacatctttaaggagctCtataatgactatctcaagta	15	12	7	7	0	3	2	1	1	3	1	4	4	3	3	0	1	1	2	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:229794981C>T	ENST00000258243.2	+	10	4648	c.4512C>T	c.(4510-4512)ctC>ctT	p.L1504L		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1504						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTAAGGAGCTCTATAATGACT	0.522													T	229794981	C	T	229794981	2	4	364	1	0	0	0	0	0	0	0	1	17127	900	32	2		2	URB2	1	229794981	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36	229794981	19455640	1494	24996											
GALNT2	2590	broad.mit.edu	37	chr1	230372444	230372444	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaaattgagaaagtgCgagttcttagaaatgatcga	15	10	13	3	2	1	3	0	2	1	2	2	7	1	4	0	2	1	1	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230372444C>T	ENST00000366672.4	+	6	652	c.580C>T	c.(580-582)Cga>Tga	p.R194*	GALNT2_ENST00000543760.1_Nonsense_Mutation_p.R156*|GALNT2_ENST00000541865.1_Nonsense_Mutation_p.R104*	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	194	Catalytic subdomain A.				immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				TGAGAAAGTGCGAGTTCTTAG	0.403													T	230372444	C	T	230372444	4	4	364	1	0	0	0	0	0	1	0	0	6267	760	27	1	602	1	GALNT2	1	230372444	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577463	230372444	18878177	1495	24997											
GALNT2	2590	broad.mit.edu	37	chr1	230398703	230398703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcttaggaagaaactcaGctgcaagcctttcaaatggt	13	9	11	8	0	2	1	2	0	0	1	2	3	2	3	1	3	5	3	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230398703G>A	ENST00000366672.4	+	13	1337	c.1265G>A	c.(1264-1266)aGc>aAc	p.S422N	GALNT2_ENST00000543760.1_Missense_Mutation_p.S384N|GALNT2_ENST00000485438.1_3'UTR|GALNT2_ENST00000541865.1_3'UTR|RP5-956O18.2_ENST00000440729.1_RNA	NM_004481.3	NP_004472.1	Q10471	GALT2_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 2 (GalNAc-T2)	422					immunoglobulin biosynthetic process|protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(5)|skin(2)	32	Breast(184;0.193)|Ovarian(103;0.249)	all_cancers(173;0.156)|Prostate(94;0.179)				AAGAAACTCAGCTGCAAGCCT	0.403													A	230398703	G	A	230398703	3	1	364	1	0	0	0	0	1	0	0	0	6267	971	34	2	1315	2	GALNT2	1	230398703	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26259	230398703	18851918	1496	24998											
PGBD5	79605	broad.mit.edu	37	chr1	230492774	230492774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtacttgaggatcttctCgaagcgggcctggctcatga	9	10	13	9	2	3	2	1	2	2	0	4	5	3	3	1	3	2	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230492774C>T	ENST00000321327.2	-	4	714	c.715G>A	c.(715-717)Gag>Aag	p.E239K	PGBD5_ENST00000525115.1_Missense_Mutation_p.E140K|PGBD5_ENST00000391860.1_Missense_Mutation_p.E94K			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	140						integral to membrane				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		AGGATCTTCTCGAAGCGGGCC	0.627													T	230492774	C	T	230492774	3	4	364	1	0	0	0	0	1	0	0	0	11861	893	31	1	973	1	PGBD5	1	230492774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94071	230492774	18757847	1497	24999											
COG2	22796	broad.mit.edu	37	chr1	230822730	230822730	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaggagatcaagaaacCtttggtaactggtagcaaag	15	8	10	8	0	1	2	1	0	0	2	2	3	2	2	2	3	3	3	2	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230822730C>A	ENST00000534989.1	+	13	1588	c.1253C>A	c.(1252-1254)cCt>cAt	p.P418H	COG2_ENST00000366668.3_Missense_Mutation_p.P477H|COG2_ENST00000546013.1_Missense_Mutation_p.P166H|COG2_ENST00000535166.1_Missense_Mutation_p.P361H|COG2_ENST00000366669.4_Missense_Mutation_p.P477H			Q14746	COG2_HUMAN	component of oligomeric golgi complex 2	477					Golgi organization|intra-Golgi vesicle-mediated transport|intracellular protein transport|oligosaccharide biosynthetic process|protein glycosylation	Golgi membrane|Golgi stack|Golgi transport complex	protein binding|protein transporter activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|urinary_tract(3)	27	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCAAGAAACCTTTGGTAACT	0.433													A	230822730	C	A	230822730	3	1	364	1	0	0	0	0	1	0	0	0	3689	681	24	4	1480	4	COG2	1	230822730	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329956	230822730	18427891	1498	25000											
AGT	183	broad.mit.edu	37	chr1	230841942	230841942	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggagaagcccttcatCttccctgaaatccagacagg	12	7	10	12	0	2	3	1	1	1	2	4	4	4	3	3	2	2	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230841942C>A	ENST00000366667.4	-	3	1075	c.861G>T	c.(859-861)aaG>aaT	p.K287N		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	287					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	AGCCCTTCATCTTCCCTGAAA	0.607													A	230841942	C	A	230841942	3	1	364	1	0	0	0	0	1	0	0	0	399	912	32	4	608	4	AGT	1	230841942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19212	230841942	18408679	1499	25001											
AGT	183	broad.mit.edu	37	chr1	230846149	230846149	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctgtgtggtccaaggCtcccagatagagagaggcca	10	7	14	10	0	1	3	1	0	0	3	3	4	3	3	3	3	1	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230846149C>A	ENST00000366667.4	-	2	662	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	150					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	TGGTCCAAGGCTCCCAGATAG	0.592													A	230846149	C	A	230846149	3	1	364	1	0	0	0	0	1	0	0	0	399	797	28	4	1025	4	AGT	1	230846149	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4207	230846149	18404472	1500	25002											
CAPN9	10753	broad.mit.edu	37	chr1	230891088	230891088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcattcctccaggaaatCgtgaaaaacccagaattcat	14	10	5	12	1	2	2	2	1	1	1	6	3	4	3	3	1	1	0	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230891088C>T	ENST00000354537.1	+	2	301	c.219C>T	c.(217-219)atC>atT	p.I73I	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Silent_p.I73I|CAPN9_ENST00000366666.2_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	73	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				TCCAGGAAATCGTGAAAAACC	0.537													T	230891088	C	T	230891088	2	4	364	1	0	0	0	0	0	0	0	1	2658	874	31	1		1	CAPN9	1	230891088	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44939	230891088	18359533	1501	25003											
CAPN9	10753	broad.mit.edu	37	chr1	230895265	230895265	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccattttgcaggagactgCtggctattagccgccatcgc	7	12	10	12	2	0	1	0	0	0	1	2	2	1	1	3	2	3	3	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230895265C>A	ENST00000354537.1	+	3	373	c.291C>A	c.(289-291)tgC>tgA	p.C97*	RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Nonsense_Mutation_p.C97*|CAPN9_ENST00000366666.2_Intron	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	97	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				CAGGAGACTGCTGGCTATTAG	0.478													A	230895265	C	A	230895265	4	1	364	1	0	0	0	0	0	1	0	0	2658	805	28	4	301	4	CAPN9	1	230895265	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4177	230895265	18355356	1502	25004											
CAPN9	10753	broad.mit.edu	37	chr1	230928214	230928214	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttgatgaattcaaagtgTtctgggacaagctgaagcag	13	11	12	5	0	2	3	1	3	1	0	2	4	2	4	0	1	2	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230928214T>G	ENST00000354537.1	+	15	1769	c.1687T>G	c.(1687-1689)Ttc>Gtc	p.F563V	RP11-99J16__A.2_ENST00000452640.1_RNA|CAPN9_ENST00000480004.1_3'UTR|RP11-99J16__A.2_ENST00000428480.1_RNA|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.F589V|CAPN9_ENST00000366666.2_Missense_Mutation_p.F526V	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	589	Domain IV.|EF-hand 2.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				ATTCAAAGTGTTCTGGGACAA	0.527													G	230928214	T	G	230928214	3	3	364	1	0	0	0	0	1	0	0	0	2658	1725	60	5	1827	5	CAPN9	1	230928214	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32949	230928214	18322407	1503	25005											
C1orf198	84886	broad.mit.edu	37	chr1	230991457	230991457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagagtgctcatcttgccaaGttagatcctgaaataaaaaa	16	10	7	8	0	2	3	1	1	1	2	3	3	3	3	2	0	2	2	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:230991457G>A	ENST00000366663.5	-	2	481	c.341C>T	c.(340-342)aCt>aTt	p.T114I	C1orf198_ENST00000523410.1_5'UTR|C1orf198_ENST00000470540.1_Missense_Mutation_p.T76I|C1orf198_ENST00000427697.2_Intron	NM_032800.2	NP_116189.1	Q9H425	CA198_HUMAN	chromosome 1 open reading frame 198	114										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	17	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				ATCTTGCCAAGTTAGATCCTG	0.388													A	230991457	G	A	230991457	3	1	364	1	0	0	0	0	1	0	0	0	2046	1029	36	2	654	2	C1orf198	1	230991457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63243	230991457	18259164	1504	25006											
TTC13	79573	broad.mit.edu	37	chr1	231067615	231067615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtggctgcttcaaaattgCccagttctctaggtatttaa	10	14	8	9	0	2	0	1	0	1	0	3	0	2	0	1	2	2	4	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231067615C>T	ENST00000366661.4	-	10	999	c.992G>A	c.(991-993)gGc>gAc	p.G331D	TTC13_ENST00000414259.1_Missense_Mutation_p.G278D|TTC13_ENST00000366662.4_Missense_Mutation_p.G278D	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	331							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		TTCAAAATTGCCCAGTTCTCT	0.398													T	231067615	C	T	231067615	3	4	364	1	0	0	0	0	1	0	0	0	16782	739	26	2	1646	2	TTC13	1	231067615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76158	231067615	18183006	1505	25007											
ARV1	64801	broad.mit.edu	37	chr1	231125862	231125862	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgactatcagatccatGgaaaactctgcatattttgt	11	16	6	8	0	3	2	1	1	2	1	4	3	4	3	1	1	2	1	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231125862G>T	ENST00000310256.2	+	3	358	c.301G>T	c.(301-303)Gga>Tga	p.G101*	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Nonsense_Mutation_p.G61*	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	101			G -> E (in dbSNP:rs35764859).		sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		TCAGATCCATGGAAAACTCTG	0.428													T	231125862	G	T	231125862	4	4	364	1	0	0	0	0	0	1	0	0	1007	1349	47	4	311	4	ARV1	1	231125862	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58247	231125862	18124759	1506	25008											
FAM89A	375061	broad.mit.edu	37	chr1	231155731	231155731	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggaaatattcctcctCttcatcgaagaagccgttct	9	13	6	13	2	3	1	1	0	2	1	7	3	6	2	4	1	1	1	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231155731C>A	ENST00000366654.4	-	2	467	c.433G>T	c.(433-435)Gag>Tag	p.E145*	FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	145										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TATTCCTCCTCTTCATCGAAG	0.592													A	231155731	C	A	231155731	4	1	364	1	0	0	0	0	0	1	0	0	5696	922	32	4	125	4	FAM89A	1	231155731	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29869	231155731	18094890	1507	25009											
TRIM67	440730	broad.mit.edu	37	chr1	231344960	231344960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtatgtggacaacaaccGcagctggttcatgcactgca	11	9	10	11	1	1	0	1	0	0	0	1	1	1	1	1	2	5	6	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231344960G>A	ENST00000444294.3	+	8	2939	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	TRIM67_ENST00000366652.2_Missense_Mutation_p.R696H|TRIM67_ENST00000366653.5_Missense_Mutation_p.R696H|TRIM67_ENST00000449018.3_Missense_Mutation_p.R634H	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	696	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GACAACAACCGCAGCTGGTTC	0.607													A	231344960	G	A	231344960	3	1	364	1	0	0	0	0	1	0	0	0	16641	1087	38	1	2117	1	TRIM67	1	231344960	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189229	231344960	17905661	1508	25010											
TRIM67	440730	broad.mit.edu	37	chr1	231349664	231349664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcagcagggccccacaGccttcagccacgtggacggg	8	3	15	15	2	1	0	1	0	0	0	1	1	1	1	4	4	4	3	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231349664G>A	ENST00000444294.3	+	9	3079	c.2221G>A	c.(2221-2223)Gcc>Acc	p.A741T	TRIM67_ENST00000366652.2_Missense_Mutation_p.A743T|TRIM67_ENST00000366653.5_Missense_Mutation_p.A743T|TRIM67_ENST00000449018.3_Missense_Mutation_p.A681T	NM_001004342.3	NP_001004342.3	Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	743	B30.2/SPRY.					cytoplasm|cytoskeleton	zinc ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				GGGCCCCACAGCCTTCAGCCA	0.652													A	231349664	G	A	231349664	3	1	364	1	0	0	0	0	1	0	0	0	16641	971	34	2	2261	2	TRIM67	1	231349664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4704	231349664	17900957	1509	25011											
C1orf131	128061	broad.mit.edu	37	chr1	231362753	231362753	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggcacgttcctgttccAggattctctcctttcctttt	5	18	6	12	1	1	0	0	0	1	0	6	1	5	1	4	2	0	3	4	2	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231362753A>G	ENST00000318906.2	-	4	600	c.572T>C	c.(571-573)cTg>cCg	p.L191P	C1orf131_ENST00000366649.2_Missense_Mutation_p.L191P|C1orf131_ENST00000366651.3_Missense_Mutation_p.L190P			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	191										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCCTGTTCCAGGATTCTCTC	0.483													G	231362753	A	G	231362753	3	3	364	1	0	0	0	0	1	0	0	0	2018	188	7	3	325	3	C1orf131	1	231362753	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13089	231362753	17887868	1510	25012											
EXOC8	149371	broad.mit.edu	37	chr1	231472057	231472057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagccgctgtcagtgcctgCaaaatcgatctcaaattctc	10	10	8	13	2	3	0	2	0	2	0	6	1	3	0	2	0	3	3	2	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472057C>T	ENST00000366645.1	-	1	1541	c.1423G>A	c.(1423-1425)Gca>Aca	p.A475T	EXOC8_ENST00000360394.2_Missense_Mutation_p.A479T			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	479					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				TCAGTGCCTGCAAAATCGATC	0.478													T	231472057	C	T	231472057	3	4	364	1	0	0	0	0	1	0	0	0	5352	710	25	2	746	2	EXOC8	1	231472057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109304	231472057	17778564	1511	25013											
EXOC8	149371	broad.mit.edu	37	chr1	231472244	231472244	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccagccggatcagttgCgaaactgctctgcgagtagc	8	8	13	12	3	2	0	1	0	1	0	2	3	2	1	2	2	6	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472244C>T	ENST00000366645.1	-	1	1354	c.1236G>A	c.(1234-1236)tcG>tcA	p.S412S	EXOC8_ENST00000360394.2_Silent_p.S416S			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	416					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				GGATCAGTTGCGAAACTGCTC	0.552													T	231472244	C	T	231472244	2	4	364	1	0	0	0	0	0	0	0	1	5352	755	27	1		1	EXOC8	1	231472244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	231472244	17778377	1512	25014											
EXOC8	149371	broad.mit.edu	37	chr1	231472501	231472501	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatccattccatggagaggtCcaccttctcttcctctacct	7	13	6	15	0	2	1	0	0	2	1	7	3	6	1	6	2	1	0	6	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231472501C>A	ENST00000366645.1	-	1	1097	c.979G>T	c.(979-981)Gac>Tac	p.D327Y	EXOC8_ENST00000360394.2_Missense_Mutation_p.D331Y			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	331					exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				ATGGAGAGGTCCACCTTCTCT	0.522													A	231472501	C	A	231472501	3	1	364	1	0	0	0	0	1	0	0	0	5352	855	30	4	1190	4	EXOC8	1	231472501	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257	231472501	17778120	1513	25015											
DISC1	27185	broad.mit.edu	37	chr1	231829962	231829962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagccatggatagttCtgagaccctggacgccagct	8	10	12	11	1	1	1	0	1	1	1	1	4	1	3	3	2	3	4	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231829962C>A	ENST00000439617.2	+	2	511	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	DISC1_ENST00000366633.3_Missense_Mutation_p.S153Y|DISC1_ENST00000602281.1_Missense_Mutation_p.S153Y|DISC1_ENST00000317586.4_Missense_Mutation_p.S153Y|DISC1_ENST00000537876.1_Missense_Mutation_p.S153Y|DISC1_ENST00000366637.3_5'UTR|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.S153Y|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.S153Y|DISC1_ENST00000539444.1_Missense_Mutation_p.S153Y	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	153	Interaction with MAP1A.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				ATGGATAGTTCTGAGACCCTG	0.612													A	231829962	C	A	231829962	3	1	364	1	0	0	0	0	1	0	0	0	4577	913	32	4	464	4	DISC1	1	231829962	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	357461	231829962	17420659	1514	25016											
DISC1	27185	broad.mit.edu	37	chr1	231837741	231837741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcagaaacttcaggaagAtgcagttgagaatgatgatt	15	11	10	5	0	2	5	2	3	0	3	2	7	2	6	0	1	2	2	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:231837741A>G	ENST00000439617.2	+	3	1141	c.1088A>G	c.(1087-1089)gAt>gGt	p.D363G	DISC1_ENST00000366633.3_Missense_Mutation_p.D363G|DISC1_ENST00000602281.1_Missense_Mutation_p.D363G|DISC1_ENST00000317586.4_Intron|DISC1_ENST00000537876.1_Missense_Mutation_p.D363G|DISC1_ENST00000366637.3_5'UTR|TSNAX-DISC1_ENST00000602962.1_3'UTR|DISC1_ENST00000535983.1_Missense_Mutation_p.D363G|DISC1_ENST00000602873.1_Intron|DISC1_ENST00000366636.4_Missense_Mutation_p.D363G|DISC1_ENST00000539444.1_Missense_Mutation_p.D363G	NM_001164537.1|NM_001164540.1|NM_018662.2	NP_001158009.1|NP_001158012.1|NP_061132.2	Q9NRI5	DISC1_HUMAN	disrupted in schizophrenia 1	363	Interaction with TRAF3IP1.				microtubule cytoskeleton organization|neuron migration|positive regulation of neuroblast proliferation|positive regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	centrosome|microtubule	protein binding			breast(1)|cervix(1)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(173;0.0208)|Prostate(94;0.0975)				CTTCAGGAAGATGCAGTTGAG	0.274													G	231837741	A	G	231837741	3	3	364	1	0	0	0	0	1	0	0	0	4577	333	12	3	1098	3	DISC1	1	231837741	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7779	231837741	17412880	1515	25017											
SIPA1L2	57568	broad.mit.edu	37	chr1	232551265	232551265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgcccgtgcagcatccacGaggtgggtccaatctaaccc	10	7	10	14	2	1	0	0	0	1	0	3	1	3	0	4	2	4	2	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232551265G>A	ENST00000366630.1	-	18	5095	c.4737C>T	c.(4735-4737)ctC>ctT	p.L1579L	SIPA1L2_ENST00000308942.4_Silent_p.L653L|SIPA1L2_ENST00000262861.4_Silent_p.L1579L			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1579					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity	p.L1579L(2)		NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CAGCATCCACGAGGTGGGTCC	0.582													A	232551265	G	A	232551265	2	1	364	1	0	0	0	0	0	0	0	1	14424	1045	37	1		1	SIPA1L2	1	232551265	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	713524	232551265	16699356	1516	25018											
SIPA1L2	57568	broad.mit.edu	37	chr1	232649691	232649691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttctccctgtgaataggCtggttttctctgggcacttc	5	16	9	11	0	2	1	0	1	2	0	5	1	2	1	1	3	0	3	1	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232649691C>T	ENST00000366630.1	-	2	1753	c.1395G>A	c.(1393-1395)caG>caA	p.Q465Q	SIPA1L2_ENST00000262861.4_Silent_p.Q465Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	465					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TGTGAATAGGCTGGTTTTCTC	0.478													T	232649691	C	T	232649691	2	4	364	1	0	0	0	0	0	0	0	1	14424	796	28	2		2	SIPA1L2	1	232649691	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98426	232649691	16600930	1517	25019											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650749	232650749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgcccattctgcaggaCagaagtgatgctttcataac	11	11	8	11	0	3	2	1	1	2	1	3	3	3	3	1	1	4	2	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:232650749C>T	ENST00000366630.1	-	2	695	c.337G>A	c.(337-339)Gtc>Atc	p.V113I	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.V113I			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	113					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCTGCAGGACAGAAGTGATG	0.502													T	232650749	C	T	232650749	3	4	364	1	0	0	0	0	1	0	0	0	14424	478	17	2	4915	2	SIPA1L2	1	232650749	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1058	232650749	16599872	1518	25020											
PCNXL2	80003	broad.mit.edu	37	chr1	233134179	233134179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggcattgcaatccttcCgcatcctgtgggagggagaa	8	8	15	10	2	0	1	0	0	0	1	3	3	3	2	3	4	1	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233134179C>T	ENST00000258229.9	-	32	5843	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R522Q	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCAATCCTTCCGCATCCTGTG	0.582													T	233134179	C	T	233134179	3	4	364	1	0	0	0	0	1	0	0	0	11668	652	23	1	816	1	PCNXL2	1	233134179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	483430	233134179	16116442	1519	25021											
PCNXL2	80003	broad.mit.edu	37	chr1	233314861	233314861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagatggtaagaaagggCgaccaagaggccacagaagg	15	3	15	8	1	1	4	1	0	0	4	1	5	1	4	2	4	0	2	2	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233314861C>T	ENST00000258229.9	-	16	3361	c.3127G>A	c.(3127-3129)Gcc>Acc	p.A1043T	PCNXL2_ENST00000488780.2_Missense_Mutation_p.A176T	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGAAAGGGCGACCAAGAGG	0.527													T	233314861	C	T	233314861	3	4	364	1	0	0	0	0	1	0	0	0	11668	768	27	1	3362	1	PCNXL2	1	233314861	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180682	233314861	15935760	1520	25022											
PCNXL2	80003	broad.mit.edu	37	chr1	233344278	233344278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacctattaagtagtccCtagctgattgtagaaacact	13	12	6	10	0	1	2	1	1	0	1	2	2	2	2	2	0	2	3	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233344278C>A	ENST00000258229.9	-	13	3083	c.2849G>T	c.(2848-2850)aGg>aTg	p.R950M	PCNXL2_ENST00000488780.2_Missense_Mutation_p.R83M|PCNXL2_ENST00000430153.1_Missense_Mutation_p.R249M	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane		p.R950M(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TAAGTAGTCCCTAGCTGATTG	0.463													A	233344278	C	A	233344278	3	1	364	1	0	0	0	0	1	0	0	0	11668	681	24	4	3652	4	PCNXL2	1	233344278	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29417	233344278	15906343	1521	25023											
PCNXL2	80003	broad.mit.edu	37	chr1	233353846	233353846	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacatatctttgcaaaaGccttggctcaaggtcagaaa	14	9	7	11	0	3	1	2	0	1	1	3	1	3	1	2	2	2	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233353846G>T	ENST00000258229.9	-	11	2823	c.2589C>A	c.(2587-2589)ggC>ggA	p.G863G	PCNXL2_ENST00000430153.1_Silent_p.G162G	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTGCAAAAGCCTTGGCTCA	0.463													T	233353846	G	T	233353846	2	4	364	1	0	0	0	0	0	0	0	1	11668	958	34	4		4	PCNXL2	1	233353846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9568	233353846	15896775	1522	25024											
PCNXL2	80003	broad.mit.edu	37	chr1	233394057	233394057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggctggacttacaagaCgatgggtcaaggttagtctg	10	11	13	7	1	3	1	2	0	1	1	3	3	3	2	0	4	1	2	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394057C>T	ENST00000258229.9	-	5	1785	c.1551G>A	c.(1549-1551)tcG>tcA	p.S517S	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				ACTTACAAGACGATGGGTCAA	0.522													T	233394057	C	T	233394057	2	4	364	1	0	0	0	0	0	0	0	1	11668	523	19	1		1	PCNXL2	1	233394057	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40211	233394057	15856564	1523	25025											
PCNXL2	80003	broad.mit.edu	37	chr1	233394358	233394358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcatttggagaaccggccGcccctgggttagtgggctca	6	8	15	12	3	1	1	1	0	0	1	1	2	1	1	4	5	1	3	4	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233394358G>A	ENST00000258229.9	-	5	1484	c.1250C>T	c.(1249-1251)gCg>gTg	p.A417V	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGAACCGGCCGCCCCTGGGTT	0.572													A	233394358	G	A	233394358	3	1	364	1	0	0	0	0	1	0	0	0	11668	1087	38	1	5283	1	PCNXL2	1	233394358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301	233394358	15856263	1524	25026											
KIAA1804	84451	broad.mit.edu	37	chr1	233518142	233518142	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgccaagggaggtctcAcccaagaagcacagcactgt	12	6	10	13	0	2	1	1	0	2	1	3	2	2	2	2	2	3	2	2	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233518142A>G	ENST00000366624.3	+	10	3057	c.2796A>G	c.(2794-2796)tcA>tcG	p.S932S	MLK4_ENST00000366622.1_Silent_p.S378S	NM_032435.2	NP_115811.2																					GGGAGGTCTCACCCAAGAAGC	0.592													G	233518142	A	G	233518142	2	3	364	1	0	0	0	0	0	0	0	1	8317	146	6	3		3	KIAA1804	1	233518142	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	123784	233518142	15732479	1525	25027											
KCNK1	3775	broad.mit.edu	37	chr1	233802625	233802625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggatgactggaacttcctgGaatccttttatttttgtttt	8	19	8	6	0	0	1	0	1	0	0	2	4	2	4	2	3	1	1	2	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:233802625G>A	ENST00000366621.3	+	2	808	c.640G>A	c.(640-642)Gaa>Aaa	p.E214K	KCNK1_ENST00000366620.1_Missense_Mutation_p.E98K|KCNK1_ENST00000472190.1_3'UTR	NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	214						voltage-gated potassium channel complex	inward rectifier potassium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine(DB00908)	GAACTTCCTGGAATCCTTTTA	0.483													A	233802625	G	A	233802625	3	1	364	1	0	0	0	0	1	0	0	0	8116	1175	41	2	646	2	KCNK1	1	233802625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284483	233802625	15447996	1526	25028											
TARBP1	6894	broad.mit.edu	37	chr1	234556471	234556471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaagtctagggaaaagtaCcagcagagtctgccacactc	13	7	10	11	0	3	1	1	0	2	1	4	2	3	2	2	1	3	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:234556471C>A	ENST00000040877.1	-	21	3531	c.3532G>T	c.(3532-3534)Gta>Tta	p.V1178L		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1178					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GGGAAAAGTACCAGCAGAGTC	0.368													A	234556471	C	A	234556471	3	1	364	1	0	0	0	0	1	0	0	0	15652	507	18	4	1373	4	TARBP1	1	234556471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	753846	234556471	14694150	1527	25029											
ARID4B	51742	broad.mit.edu	37	chr1	235377287	235377287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcttcttcctcctcCtcctcctcttctgcttcttc	0	21	1	19	0	7	0	0	0	7	0	13	0	12	0	5	0	1	1	5	0	0	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235377287C>T	ENST00000264183.3	-	17	2135	c.1638G>A	c.(1636-1638)gaG>gaA	p.E546E	ARID4B_ENST00000349213.3_Intron|ARID4B_ENST00000366603.2_Silent_p.E546E	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	546	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			cttcctcctcctcctcctctt	0.393													T	235377287	C	T	235377287	2	4	364	1	0	0	0	0	0	0	0	1	923	680	24	2		2	ARID4B	1	235377287	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820816	235377287	13873334	1528	25030											
ARID4B	51742	broad.mit.edu	37	chr1	235383757	235383757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaacttttatttcttttaCattttcacactccttacatt	9	22	0	10	0	2	0	1	0	1	0	3	0	3	0	1	0	3	0	1	0	4	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235383757C>T	ENST00000264183.3	-	15	1764	c.1267G>A	c.(1267-1269)Gta>Ata	p.V423I	ARID4B_ENST00000349213.3_Missense_Mutation_p.V423I|ARID4B_ENST00000366603.2_Missense_Mutation_p.V423I	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	423	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			ATTTCTTTTACATTTTCACAC	0.343													T	235383757	C	T	235383757	3	4	364	1	0	0	0	0	1	0	0	0	923	478	17	2	2711	2	ARID4B	1	235383757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6470	235383757	13866864	1529	25031											
B3GALNT2	148789	broad.mit.edu	37	chr1	235647671	235647671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgataaagtttgacagtgatGttcctctggaaacccacatc	12	12	8	9	0	1	3	0	3	1	0	3	4	2	4	2	1	1	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235647671G>A	ENST00000366600.3	-	4	750	c.522C>T	c.(520-522)aaC>aaT	p.N174N	B3GALNT2_ENST00000494378.1_5'UTR|B3GALNT2_ENST00000313984.3_Silent_p.N215N	NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	174					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			TGACAGTGATGTTCCTCTGGA	0.423													A	235647671	G	A	235647671	2	1	364	1	0	0	0	0	0	0	0	1	1251	1368	48	2		2	B3GALNT2	1	235647671	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	263914	235647671	13602950	1530	25032											
LYST	1130	broad.mit.edu	37	chr1	235827839	235827839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggttggagaaagccacGgaacagatgatctccctgca	11	7	13	10	1	1	3	0	1	1	2	2	5	1	4	2	4	3	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235827839G>A	ENST00000389794.3	-	51	11295	c.11121C>T	c.(11119-11121)tcC>tcT	p.S3707S	LYST_ENST00000389793.2_Silent_p.S3707S|LYST_ENST00000473037.1_5'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	3707					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AGAAAGCCACGGAACAGATGA	0.478													A	235827839	G	A	235827839	2	1	364	1	0	0	0	0	0	0	0	1	9199	1103	39	1		1	LYST	1	235827839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180168	235827839	13422782	1531	25033											
LYST	1130	broad.mit.edu	37	chr1	235922652	235922652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtttttgcagactcacaGctactgatgaatgcgtcctc	10	12	8	11	1	1	3	1	2	0	1	3	3	2	3	1	0	4	3	1	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922652G>T	ENST00000389794.3	-	23	6675	c.6501C>A	c.(6499-6501)agC>agA	p.S2167R	LYST_ENST00000389793.2_Missense_Mutation_p.S2167R|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2167					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CAGACTCACAGCTACTGATGA	0.453													T	235922652	G	T	235922652	3	4	364	1	0	0	0	0	1	0	0	0	9199	962	34	4	5028	4	LYST	1	235922652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94813	235922652	13327969	1532	25034											
LYST	1130	broad.mit.edu	37	chr1	235922740	235922740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgattgggtggcaacataaGtatctgcaatattttgtaac	12	15	9	5	0	1	1	0	1	1	0	1	1	1	1	0	2	3	4	0	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235922740G>T	ENST00000389794.3	-	23	6587	c.6413C>A	c.(6412-6414)aCt>aAt	p.T2138N	LYST_ENST00000389793.2_Missense_Mutation_p.T2138N|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2138					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGCAACATAAGTATCTGCAAT	0.418													T	235922740	G	T	235922740	3	4	364	1	0	0	0	0	1	0	0	0	9199	1029	36	4	5116	4	LYST	1	235922740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88	235922740	13327881	1533	25035											
LYST	1130	broad.mit.edu	37	chr1	235926125	235926125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaggtacatgattgaccGcactttctcctgaaagatct	10	12	7	12	1	3	4	1	3	2	1	4	4	3	4	3	1	1	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235926125G>A	ENST00000389794.3	-	22	6322	c.6148C>T	c.(6148-6150)Cgg>Tgg	p.R2050W	LYST_ENST00000389793.2_Missense_Mutation_p.R2050W|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2050					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R2050W(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			ATGATTGACCGCACTTTCTCC	0.373													A	235926125	G	A	235926125	3	1	364	1	0	0	0	0	1	0	0	0	9199	1086	38	1	5385	1	LYST	1	235926125	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3385	235926125	13324496	1534	25036											
LYST	1130	broad.mit.edu	37	chr1	235929518	235929518	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaggacttctgctataatTttcacaaatgatctacaaac	15	12	4	10	0	3	1	1	1	2	0	3	2	3	2	1	1	3	1	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235929518T>C	ENST00000389794.3	-	21	6156	c.5982A>G	c.(5980-5982)aaA>aaG	p.K1994K	LYST_ENST00000389793.2_Silent_p.K1994K|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1994					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CTGCTATAATTTTCACAAATG	0.353													C	235929518	T	C	235929518	2	2	364	1	0	0	0	0	0	0	0	1	9199	1838	64	3		3	LYST	1	235929518	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3393	235929518	13321103	1535	25037											
LYST	1130	broad.mit.edu	37	chr1	235969400	235969400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacacttgtatctccctcCttttttccttgctcctcttt	3	22	2	14	0	2	0	0	0	2	0	6	0	5	0	4	0	2	2	4	0	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969400C>A	ENST00000389794.3	-	6	3210	c.3036G>T	c.(3034-3036)aaG>aaT	p.K1012N	LYST_ENST00000389793.2_Missense_Mutation_p.K1012N|LYST_ENST00000536965.1_Missense_Mutation_p.K1012N			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1012					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			TATCTCCCTCCTTTTTTCCTT	0.333													A	235969400	C	A	235969400	3	1	364	1	0	0	0	0	1	0	0	0	9199	680	24	4	8561	4	LYST	1	235969400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39882	235969400	13281221	1536	25038											
LYST	1130	broad.mit.edu	37	chr1	235969487	235969487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catactcggaaaccaccaagCctataaaactgtttctggaa	15	9	6	11	1	1	0	0	0	1	0	2	2	1	2	3	2	4	1	3	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235969487C>T	ENST00000389794.3	-	6	3123	c.2949G>A	c.(2947-2949)agG>agA	p.R983R	LYST_ENST00000389793.2_Silent_p.R983R|LYST_ENST00000536965.1_Silent_p.R983R			Q99698	LYST_HUMAN	lysosomal trafficking regulator	983					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACCACCAAGCCTATAAAACT	0.398													T	235969487	C	T	235969487	2	4	364	1	0	0	0	0	0	0	0	1	9199	738	26	2		2	LYST	1	235969487	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87	235969487	13281134	1537	25039											
LYST	1130	broad.mit.edu	37	chr1	235972444	235972444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctgctgtagtaagcgCaagcactgatgggcacacac	12	6	12	11	1	0	1	0	1	0	0	0	2	0	1	1	1	4	6	1	1	4	2	rs149520131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235972444C>T	ENST00000389794.3	-	5	1848	c.1674G>A	c.(1672-1674)ttG>ttA	p.L558L	LYST_ENST00000389793.2_Silent_p.L558L|LYST_ENST00000536965.1_Silent_p.L558L			Q99698	LYST_HUMAN	lysosomal trafficking regulator	558					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GTAGTAAGCGCAAGCACTGAT	0.453													T	235972444	C	T	235972444	2	4	364	1	0	0	0	0	0	0	0	1	9199	709	25	2		2	LYST	1	235972444	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2957	235972444	13278177	1538	25040											
LYST	1130	broad.mit.edu	37	chr1	235973133	235973133	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaagatgcaacactgttcGaaagagcatcctttgaatca	15	9	8	9	1	1	4	1	1	0	3	3	5	2	4	1	0	3	3	1	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:235973133G>A	ENST00000389794.3	-	5	1159	c.985C>T	c.(985-987)Cga>Tga	p.R329*	LYST_ENST00000389793.2_Nonsense_Mutation_p.R329*|LYST_ENST00000536965.1_Nonsense_Mutation_p.R329*			Q99698	LYST_HUMAN	lysosomal trafficking regulator	329					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding	p.R329R(1)|p.R329*(1)		NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AACACTGTTCGAAAGAGCATC	0.438													A	235973133	G	A	235973133	4	1	364	1	0	0	0	0	0	1	0	0	9199	1066	37	1	10616	1	LYST	1	235973133	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	689	235973133	13277488	1539	25041											
NID1	4811	broad.mit.edu	37	chr1	236143157	236143157	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatacagattcttcccgtaGctcgtcacagcaaaaggata	15	9	7	10	2	2	1	1	0	1	1	4	2	3	2	1	1	3	3	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236143157G>A	ENST00000264187.6	-	18	3556	c.3474C>T	c.(3472-3474)agC>agT	p.S1158S	NID1_ENST00000366595.3_Silent_p.S1025S	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1158					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCTTCCCGTAGCTCGTCACAG	0.597													A	236143157	G	A	236143157	2	1	364	1	0	0	0	0	0	0	0	1	10490	962	34	2		2	NID1	1	236143157	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170024	236143157	13107464	1540	25042											
NID1	4811	broad.mit.edu	37	chr1	236175274	236175274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaggtttgcactggcacGtgaaagagcctggagtgttg	10	9	14	8	1	0	2	0	1	0	1	0	3	0	3	2	3	3	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236175274G>A	ENST00000264187.6	-	12	2556	c.2474C>T	c.(2473-2475)aCg>aTg	p.T825M	NID1_ENST00000366595.3_Intron	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	825	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GCACTGGCACGTGAAAGAGCC	0.567													A	236175274	G	A	236175274	3	1	364	1	0	0	0	0	1	0	0	0	10490	1145	40	1	1305	1	NID1	1	236175274	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32117	236175274	13075347	1541	25043											
NID1	4811	broad.mit.edu	37	chr1	236205240	236205240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaacttcatccacatCtatgacctgagggtgctgct	8	13	7	13	0	3	2	2	2	1	0	5	2	5	2	3	1	3	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236205240C>A	ENST00000264187.6	-	4	1187	c.1105G>T	c.(1105-1107)Gat>Tat	p.D369Y	NID1_ENST00000366595.3_Missense_Mutation_p.D369Y	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	369					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	TCATCCACATCTATGACCTGA	0.532													A	236205240	C	A	236205240	3	1	364	1	0	0	0	0	1	0	0	0	10490	913	32	4	2706	4	NID1	1	236205240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29966	236205240	13045381	1542	25044											
ERO1LB	56605	broad.mit.edu	37	chr1	236389961	236389961	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaccttccaaaagataaTttgcgcatagatgtaaattg	15	13	7	6	1	0	2	0	0	0	2	1	3	1	2	2	0	2	2	2	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236389961T>G	ENST00000354619.5	-	11	992	c.791A>C	c.(790-792)aAt>aCt	p.N264T		NM_019891.3	NP_063944.3	Q86YB8	ERO1B_HUMAN	ERO1-like beta (S. cerevisiae)	264					electron transport chain|protein thiol-disulfide exchange|transport	endoplasmic reticulum membrane	flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor|unfolded protein binding			NS(1)|endometrium(3)|large_intestine(8)|lung(8)|skin(2)|urinary_tract(1)	23	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.123)|Acute lymphoblastic leukemia(190;0.205)|Prostate(94;0.219)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)			CAAAAGATAATTTGCGCATAG	0.299													G	236389961	T	G	236389961	3	3	364	1	0	0	0	0	1	0	0	0	5281	1493	52	5	636	5	ERO1LB	1	236389961	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	184721	236389961	12860660	1543	25045											
LGALS8	3964	broad.mit.edu	37	chr1	236702282	236702282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggctgcattgtttgcaatActttgataaatgaaaaatgg	13	13	9	6	1	0	2	0	2	0	0	0	2	0	2	1	2	3	4	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702282A>G	ENST00000526589.1	+	7	758	c.238A>G	c.(238-240)Act>Gct	p.T80A	LGALS8_ENST00000450372.2_Missense_Mutation_p.T80A|LGALS8_ENST00000352231.2_Missense_Mutation_p.T80A|LGALS8_ENST00000525042.1_Missense_Mutation_p.T80A|LGALS8_ENST00000366584.4_Missense_Mutation_p.T80A|LGALS8_ENST00000416919.2_Missense_Mutation_p.T80A|LGALS8_ENST00000323938.6_Missense_Mutation_p.T53A|LGALS8_ENST00000526634.1_Missense_Mutation_p.T80A|LGALS8_ENST00000341872.6_Missense_Mutation_p.T80A|LGALS8_ENST00000527974.1_Missense_Mutation_p.T80A			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	80	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGTTTGCAATACTTTGATAAA	0.453													G	236702282	A	G	236702282	3	3	364	1	0	0	0	0	1	0	0	0	8807	391	14	3	248	3	LGALS8	1	236702282	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	312321	236702282	12548339	1544	25046											
LGALS8	3964	broad.mit.edu	37	chr1	236702296	236702296	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaatactttgataaatgaAaaatggggacgggaagagat	17	9	12	3	1	0	3	0	2	0	1	0	6	0	5	0	3	2	1	0	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236702296A>G	ENST00000526589.1	+	7	772	c.252A>G	c.(250-252)gaA>gaG	p.E84E	LGALS8_ENST00000450372.2_Silent_p.E84E|LGALS8_ENST00000352231.2_Silent_p.E84E|LGALS8_ENST00000525042.1_Silent_p.E84E|LGALS8_ENST00000366584.4_Silent_p.E84E|LGALS8_ENST00000416919.2_Silent_p.E84E|LGALS8_ENST00000323938.6_Silent_p.E57E|LGALS8_ENST00000526634.1_Silent_p.E84E|LGALS8_ENST00000341872.6_Silent_p.E84E|LGALS8_ENST00000527974.1_Silent_p.E84E			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	84	Galectin 1.					cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			TGATAAATGAAAAATGGGGAC	0.438													G	236702296	A	G	236702296	2	3	364	1	0	0	0	0	0	0	0	1	8807	11	1	3		3	LGALS8	1	236702296	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14	236702296	12548325	1545	25047											
HEATR1	55127	broad.mit.edu	37	chr1	236722336	236722336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgctgcagcttgttatTcaaaaggtccagcgctttgc	8	15	9	9	1	1	0	1	0	0	0	2	0	2	0	1	1	5	5	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236722336T>C	ENST00000366582.3	-	35	4984	c.4870A>G	c.(4870-4872)Aat>Gat	p.N1624D	HEATR1_ENST00000366581.2_Missense_Mutation_p.N1543D	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1624					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGCTTGTTATTCAAAAGGTCC	0.483													C	236722336	T	C	236722336	3	2	364	1	0	0	0	0	1	0	0	0	7082	1783	62	3	1608	3	HEATR1	1	236722336	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20040	236722336	12528285	1546	25048											
HEATR1	55127	broad.mit.edu	37	chr1	236738000	236738000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatggttggcattcccgcGtaaagttcctttgttgtgtg	6	16	12	7	2	0	1	0	1	0	0	2	1	2	1	2	2	0	5	2	2	3	6	rs145524497		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236738000G>A	ENST00000366582.3	-	23	3402	c.3288C>T	c.(3286-3288)taC>taT	p.Y1096Y	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1096					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GCATTCCCGCGTAAAGTTCCT	0.383													A	236738000	G	A	236738000	2	1	364	1	0	0	0	0	0	0	0	1	7082	1140	40	1		1	HEATR1	1	236738000	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15664	236738000	12512621	1547	25049											
ACTN2	88	broad.mit.edu	37	chr1	236881218	236881218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacccagattgagaacatcGaggaagacttcaggaatggc	14	6	12	9	1	1	3	1	1	0	3	2	7	1	5	1	3	1	1	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236881218G>A	ENST00000366578.4	+	2	353	c.187G>A	c.(187-189)Gag>Aag	p.E63K	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.E63K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	63	Actin-binding.|CH 1.				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			TGAGAACATCGAGGAAGACTT	0.468													A	236881218	G	A	236881218	3	1	364	1	0	0	0	0	1	0	0	0	205	1059	37	1	193	1	ACTN2	1	236881218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143218	236881218	12369403	1548	25050											
ACTN2	88	broad.mit.edu	37	chr1	236902708	236902708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttccgggattaccgccGgaagcacaagccacccaagg	11	4	12	14	3	0	0	0	0	0	0	1	3	1	3	5	4	3	1	5	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236902708G>A	ENST00000366578.4	+	10	1149	c.983G>A	c.(982-984)cGg>cAg	p.R328Q	ACTN2_ENST00000492634.1_3'UTR|ACTN2_ENST00000542672.1_Missense_Mutation_p.R328Q|ACTN2_ENST00000546208.1_Intron	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	328					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GATTACCGCCGGAAGCACAAG	0.577													A	236902708	G	A	236902708	3	1	364	1	0	0	0	0	1	0	0	0	205	1116	39	1	1021	1	ACTN2	1	236902708	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21490	236902708	12347913	1549	25051											
ACTN2	88	broad.mit.edu	37	chr1	236912466	236912466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccattgatcagcttcacctgGagtttgccaagagggctgct	8	11	11	11	0	2	2	2	1	0	1	2	3	2	3	3	2	3	4	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236912466G>A	ENST00000366578.4	+	14	1724	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	ACTN2_ENST00000542672.1_Missense_Mutation_p.E520K|ACTN2_ENST00000546208.1_Missense_Mutation_p.E14K	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	520					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GCTTCACCTGGAGTTTGCCAA	0.408													A	236912466	G	A	236912466	3	1	364	1	0	0	0	0	1	0	0	0	205	1175	41	2	1612	2	ACTN2	1	236912466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9758	236912466	12338155	1550	25052											
ACTN2	88	broad.mit.edu	37	chr1	236914862	236914862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatccagaacgaggtggaGaaggtgattcagagctacaa	14	6	13	8	1	1	4	1	1	0	3	2	6	2	4	2	3	3	1	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236914862G>T	ENST00000366578.4	+	15	1915	c.1749G>T	c.(1747-1749)gaG>gaT	p.E583D	ACTN2_ENST00000542672.1_Missense_Mutation_p.E583D|ACTN2_ENST00000546208.1_Missense_Mutation_p.E77D	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	583					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ACGAGGTGGAGAAGGTGATTC	0.577													T	236914862	G	T	236914862	3	4	364	1	0	0	0	0	1	0	0	0	205	933	33	4	1807	4	ACTN2	1	236914862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2396	236914862	12335759	1551	25053											
ACTN2	88	broad.mit.edu	37	chr1	236917269	236917269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaactcgtgcccatccGcgatcaatccctgcaggagg	10	6	11	14	3	1	0	1	0	0	0	4	3	3	1	3	2	4	2	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236917269G>A	ENST00000366578.4	+	16	2028	c.1862G>A	c.(1861-1863)cGc>cAc	p.R621H	ACTN2_ENST00000542672.1_Missense_Mutation_p.R621H|ACTN2_ENST00000546208.1_Missense_Mutation_p.R115H	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	621					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			GTGCCCATCCGCGATCAATCC	0.587													A	236917269	G	A	236917269	3	1	364	1	0	0	0	0	1	0	0	0	205	1087	38	1	1924	1	ACTN2	1	236917269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2407	236917269	12333352	1552	25054											
ACTN2	88	broad.mit.edu	37	chr1	236924466	236924466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttccggatcctggcttCtgataaggtctgcattgaca	7	13	9	12	1	2	2	0	2	2	0	5	3	5	3	3	3	1	2	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236924466C>T	ENST00000366578.4	+	20	2685	c.2519C>T	c.(2518-2520)tCt>tTt	p.S840F	ACTN2_ENST00000542672.1_Missense_Mutation_p.S840F|ACTN2_ENST00000546208.1_Missense_Mutation_p.S334F	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	840					focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding			endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			ATCCTGGCTTCTGATAAGGTC	0.473													T	236924466	C	T	236924466	3	4	364	1	0	0	0	0	1	0	0	0	205	913	32	2	2597	2	ACTN2	1	236924466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7197	236924466	12326155	1553	25055											
MTR	4548	broad.mit.edu	37	chr1	236966835	236966835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagcgggagaagctaaacGaagaacacttccgaggtcag	14	5	12	10	3	1	2	1	0	0	2	3	5	3	2	2	2	4	1	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:236966835G>A	ENST00000366577.5	+	2	536	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	MTR_ENST00000418145.2_Intron|MTR_ENST00000535889.1_Missense_Mutation_p.E48K	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	48	Hcy-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	GAAGCTAAACGAAGAACACTT	0.463													A	236966835	G	A	236966835	3	1	364	1	0	0	0	0	1	0	0	0	10034	1059	37	1	148	1	MTR	1	236966835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42369	236966835	12283786	1554	25056											
MTR	4548	broad.mit.edu	37	chr1	237001797	237001797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagtgcattgtcaatagCattagtctgaaggaaggaga	14	9	14	4	0	2	2	1	1	1	1	2	5	2	4	0	3	2	2	0	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237001797C>T	ENST00000366577.5	+	15	1807	c.1413C>T	c.(1411-1413)agC>agT	p.S471S	MTR_ENST00000535889.1_Silent_p.S471S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	471	Pterin-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TTGTCAATAGCATTAGTCTGA	0.458													T	237001797	C	T	237001797	2	4	364	1	0	0	0	0	0	0	0	1	10034	709	25	2		2	MTR	1	237001797	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34962	237001797	12248824	1555	25057											
MTR	4548	broad.mit.edu	37	chr1	237023145	237023145	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattcagactcaaggcacaGgagggaagaaagtcattcag	16	6	11	8	0	4	2	4	0	0	2	4	4	4	4	0	3	0	1	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237023145G>T	ENST00000366577.5	+	19	2360	c.1966G>T	c.(1966-1968)Gga>Tga	p.G656*	MTR_ENST00000535889.1_Nonsense_Mutation_p.G656*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	656					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	p.G656*(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	TCAAGGCACAGGAGGGAAGAA	0.423													T	237023145	G	T	237023145	4	4	364	1	0	0	0	0	0	1	0	0	10034	1001	35	4	2040	4	MTR	1	237023145	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21348	237023145	12227476	1556	25058											
MTR	4548	broad.mit.edu	37	chr1	237025635	237025635	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcttaacggcacagtaGaagaagaggcaagtcatttt	14	9	12	6	1	1	3	1	0	0	3	1	4	1	3	0	2	2	4	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237025635G>T	ENST00000366577.5	+	21	2690	c.2296G>T	c.(2296-2298)Gaa>Taa	p.E766*	MTR_ENST00000535889.1_Nonsense_Mutation_p.E715*	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	766					nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	CGGCACAGTAGAAGAAGAGGC	0.493													T	237025635	G	T	237025635	4	4	364	1	0	0	0	0	0	1	0	0	10034	943	33	4	2378	4	MTR	1	237025635	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2490	237025635	12224986	1557	25059											
MTR	4548	broad.mit.edu	37	chr1	237044082	237044082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagcagttaaaatagctccGagatacagtgcacctgtaat	15	9	8	9	1	0	1	0	0	0	1	1	2	1	1	2	0	4	5	2	0	5	4	rs141919148	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237044082G>A	ENST00000366577.5	+	25	3016	c.2622G>A	c.(2620-2622)ccG>ccA	p.P874P	MTR_ENST00000535889.1_Silent_p.P823P	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	874	B12-binding.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAATAGCTCCGAGATACAGTG	0.443													A	237044082	G	A	237044082	2	1	364	1	0	0	0	0	0	0	0	1	10034	1045	37	1		1	MTR	1	237044082	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18447	237044082	12206539	1558	25060											
MTR	4548	broad.mit.edu	37	chr1	237057785	237057785	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggggtagaagagctgagCaaggcctatgaggatgatgg	11	9	17	4	0	0	5	0	3	0	2	0	6	0	6	1	5	2	3	1	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237057785C>T	ENST00000366577.5	+	30	3727	c.3333C>T	c.(3331-3333)agC>agT	p.S1111S	MTR_ENST00000470570.1_3'UTR|MTR_ENST00000535889.1_Silent_p.S1060S	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	1111	AdoMet activation.				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AAGAGCTGAGCAAGGCCTATG	0.587													T	237057785	C	T	237057785	2	4	364	1	0	0	0	0	0	0	0	1	10034	709	25	2		2	MTR	1	237057785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13703	237057785	12192836	1559	25061											
RYR2	6262	broad.mit.edu	37	chr1	237619941	237619941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcatagaccgtttgcaCgtctacagcagtgcagcaca	11	8	11	11	2	1	1	0	0	1	1	1	2	1	1	1	0	6	6	1	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237619941C>T	ENST00000366574.2	+	16	1835	c.1518C>T	c.(1516-1518)caC>caT	p.H506H	RYR2_ENST00000542537.1_Silent_p.H490H|RYR2_ENST00000360064.6_Silent_p.H504H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	506					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H504Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCGTTTGCACGTCTACAGCA	0.433													T	237619941	C	T	237619941	2	4	364	1	0	0	0	0	0	0	0	1	13860	535	19	1		1	RYR2	1	237619941	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	562156	237619941	11630680	1560	25062											
RYR2	6262	broad.mit.edu	37	chr1	237632393	237632393	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatttcttcttttgcagcGgctctaattagaggaaatcg	9	16	8	8	2	4	1	0	0	4	1	5	2	4	2	0	2	2	2	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237632393G>A	ENST00000366574.2	+	17	1931	c.1614G>A	c.(1612-1614)gcG>gcA	p.A538A	RYR2_ENST00000542537.1_Splice_Site_p.A522A|RYR2_ENST00000360064.6_Splice_Site_p.A536A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	538					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTTTTGCAGCGGCTCTAATTA	0.378													A	237632393	G	A	237632393	5	1	364	1	0	0	0	0	0	0	1	0	13860	1130	39	1	1680	1	RYR2	1	237632393	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12452	237632393	11618228	1561	25063											
RYR2	6262	broad.mit.edu	37	chr1	237732539	237732539	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatgaacgaacacaccaTgatgttcacactgaatggtg	14	9	9	9	1	1	4	1	4	0	0	1	5	1	4	1	1	2	1	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237732539T>C	ENST00000366574.2	+	29	3835	c.3518T>C	c.(3517-3519)aTg>aCg	p.M1173T	RYR2_ENST00000542537.1_Missense_Mutation_p.M1157T|RYR2_ENST00000360064.6_Missense_Mutation_p.M1171T	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1173	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GAACACACCATGATGTTCACA	0.483													C	237732539	T	C	237732539	3	2	364	1	0	0	0	0	1	0	0	0	13860	1464	51	3	3632	3	RYR2	1	237732539	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100146	237732539	11518082	1562	25064											
RYR2	6262	broad.mit.edu	37	chr1	237777567	237777567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacatccacctgagctcCtatgccactgccaggctcat	9	10	7	15	0	1	2	1	2	0	0	3	2	3	2	5	1	3	2	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237777567C>A	ENST00000366574.2	+	37	5456	c.5139C>A	c.(5137-5139)tcC>tcA	p.S1713S	RYR2_ENST00000542537.1_Silent_p.S1697S|RYR2_ENST00000360064.6_Silent_p.S1711S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1713	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACCTGAGCTCCTATGCCACTG	0.507													A	237777567	C	A	237777567	2	1	364	1	0	0	0	0	0	0	0	1	13860	668	24	4		4	RYR2	1	237777567	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45028	237777567	11473054	1563	25065											
RYR2	6262	broad.mit.edu	37	chr1	237872343	237872343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tagatgagttcaccacactgGccagagatctctatgccttc	10	11	8	12	0	2	3	1	1	1	2	4	4	2	3	3	1	1	1	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237872343G>A	ENST00000366574.2	+	69	10404	c.10087G>A	c.(10087-10089)Gcc>Acc	p.A3363T	RYR2_ENST00000542537.1_Missense_Mutation_p.A3347T|RYR2_ENST00000360064.6_Missense_Mutation_p.A3361T|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3363					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CACCACACTGGCCAGAGATCT	0.473													A	237872343	G	A	237872343	3	1	364	1	0	0	0	0	1	0	0	0	13860	1203	42	2	10361	2	RYR2	1	237872343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94776	237872343	11378278	1564	25066											
RYR2	6262	broad.mit.edu	37	chr1	237942006	237942006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagtttggcacacagcaGgctgtgggatgctgtggtcg	8	9	16	8	1	0	1	0	0	0	1	1	2	0	2	0	4	2	5	0	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237942006G>A	ENST00000366574.2	+	88	12133	c.11816G>A	c.(11815-11817)aGg>aAg	p.R3939K	RYR2_ENST00000542537.1_Missense_Mutation_p.R3923K|RYR2_ENST00000360064.6_Missense_Mutation_p.R3945K|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3939					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GCACACAGCAGGCTGTGGGAT	0.448													A	237942006	G	A	237942006	3	1	364	1	0	0	0	0	1	0	0	0	13860	1000	35	2	12166	2	RYR2	1	237942006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69663	237942006	11308615	1565	25067											
RYR2	6262	broad.mit.edu	37	chr1	237955587	237955587	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctattctgcacacggtcatTtctttcttctgcatcattgg	6	17	7	11	1	6	0	2	0	4	0	6	0	6	0	0	2	2	3	0	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:237955587T>G	ENST00000366574.2	+	94	14063	c.13746T>G	c.(13744-13746)atT>atG	p.I4582M	RYR2_ENST00000542537.1_Missense_Mutation_p.I4566M|RYR2_ENST00000360064.6_Missense_Mutation_p.I4588M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4582					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACACGGTCATTTCTTTCTTCT	0.478													G	237955587	T	G	237955587	3	3	364	1	0	0	0	0	1	0	0	0	13860	1829	64	5	14120	5	RYR2	1	237955587	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13581	237955587	11295034	1566	25068											
ZP4	57829	broad.mit.edu	37	chr1	238050822	238050822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcacgttccgagacacaGcaatagagaaatggccctct	13	7	10	11	2	2	2	1	0	1	2	3	4	3	2	2	2	1	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:238050822G>T	ENST00000366570.4	-	5	751	c.593C>A	c.(592-594)gCt>gAt	p.A198D	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	198	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCGAGACACAGCAATAGAGAA	0.537													T	238050822	G	T	238050822	3	4	364	1	0	0	0	0	1	0	0	0	18317	971	34	4	1061	4	ZP4	1	238050822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95235	238050822	11199799	1567	25069											
FMN2	56776	broad.mit.edu	37	chr1	240370352	240370352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgaaatcgatacagacttCccccacggaagagggcgggg	11	4	15	11	4	0	2	0	0	0	2	2	5	1	3	2	5	1	0	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240370352C>A	ENST00000319653.9	+	5	2470	c.2240C>A	c.(2239-2241)tCc>tAc	p.S747Y		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	747					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			ATACAGACTTCCCCCACGGAA	0.572													A	240370352	C	A	240370352	3	1	364	1	0	0	0	0	1	0	0	0	5999	855	30	4	2258	4	FMN2	1	240370352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2319530	240370352	8880269	1568	25070											
RGS7	6000	broad.mit.edu	37	chr1	240966253	240966253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcactggatcttataaaaCgtgggtatgaatcacttttc	12	13	9	7	1	2	1	1	1	1	0	3	2	2	2	0	3	1	2	0	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240966253C>T	ENST00000366565.1	-	16	1691	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	RGS7_ENST00000331110.7_Missense_Mutation_p.R411H|RGS7_ENST00000446183.2_Missense_Mutation_p.R353H|RGS7_ENST00000366563.1_Missense_Mutation_p.R437H|RGS7_ENST00000366564.1_Missense_Mutation_p.R437H|RGS7_ENST00000348120.2_Missense_Mutation_p.R384H|RGS7_ENST00000407727.1_Missense_Mutation_p.R437H|RGS7_ENST00000366562.4_Missense_Mutation_p.R437H|RGS7_ENST00000401882.1_Missense_Mutation_p.R384H	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	437	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TCTTATAAAACGTGGGTATGA	0.343													T	240966253	C	T	240966253	3	4	364	1	0	0	0	0	1	0	0	0	13399	536	19	1	165	1	RGS7	1	240966253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	595901	240966253	8284368	1569	25071											
RGS7	6000	broad.mit.edu	37	chr1	240979635	240979635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctgttgttgtaactcatcTtctgttggaggtttagtttc	6	19	9	7	0	3	0	1	0	2	0	4	1	3	1	1	2	1	6	1	2	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:240979635T>A	ENST00000366565.1	-	11	1146	c.765A>T	c.(763-765)gaA>gaT	p.E255D	RGS7_ENST00000331110.7_Missense_Mutation_p.E229D|RGS7_ENST00000446183.2_Missense_Mutation_p.E171D|RGS7_ENST00000366563.1_Missense_Mutation_p.E255D|RGS7_ENST00000366564.1_Missense_Mutation_p.E255D|RGS7_ENST00000348120.2_Missense_Mutation_p.E202D|RGS7_ENST00000407727.1_Missense_Mutation_p.E255D|RGS7_ENST00000366562.4_Missense_Mutation_p.E255D|RGS7_ENST00000401882.1_Missense_Mutation_p.E202D	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	255	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			GTAACTCATCTTCTGTTGGAG	0.363													A	240979635	T	A	240979635	3	1	364	1	0	0	0	0	1	0	0	0	13399	1606	56	5	730	5	RGS7	1	240979635	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13382	240979635	8270986	1570	25072											
RGS7	6000	broad.mit.edu	37	chr1	241262035	241262035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaattccatttttttcatCttgcatccgtgctatgacgt	8	17	7	9	2	2	1	1	1	1	0	4	2	4	2	2	1	2	2	2	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241262035C>A	ENST00000366565.1	-	3	487	c.106G>T	c.(106-108)Gat>Tat	p.D36Y	RGS7_ENST00000331110.7_Missense_Mutation_p.D10Y|RGS7_ENST00000446183.2_5'UTR|RGS7_ENST00000366563.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366564.1_Missense_Mutation_p.D36Y|RGS7_ENST00000348120.2_Missense_Mutation_p.D36Y|RGS7_ENST00000407727.1_Missense_Mutation_p.D36Y|RGS7_ENST00000366562.4_Missense_Mutation_p.D36Y|RGS7_ENST00000401882.1_Missense_Mutation_p.D36Y	NM_002924.4	NP_002915.3	P49802	RGS7_HUMAN	regulator of G-protein signaling 7	36					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|protein binding|signal transducer activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(51)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76		all_cancers(173;0.0131)	OV - Ovarian serous cystadenocarcinoma(106;0.027)			TTTTTTTCATCTTGCATCCGT	0.343													A	241262035	C	A	241262035	3	1	364	1	0	0	0	0	1	0	0	0	13399	913	32	4	1421	4	RGS7	1	241262035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	282400	241262035	7988586	1571	25073											
FH	2271	broad.mit.edu	37	chr1	241667422	241667422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaccagaacccaaaaatCgaatatcatttgctatcttc	15	10	6	10	1	2	1	1	0	1	1	4	4	2	2	2	1	2	1	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241667422C>T	ENST00000366560.3	-	7	1066	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q		NM_000143.3	NP_000134.2	P07954	FUMH_HUMAN	fumarate hydratase	343					fumarate metabolic process|tricarboxylic acid cycle	cell junction|mitochondrial matrix|tricarboxylic acid cycle enzyme complex	fumarate hydratase activity			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(2)	26	Ovarian(103;0.103)	all_cancers(173;2.37e-314)|all_epithelial(177;5.17e-286)|Breast(1374;1.06e-10)|Acute lymphoblastic leukemia(190;4.93e-10)|all_neural(198;0.00118)	OV - Ovarian serous cystadenocarcinoma(106;0.0214)	Colorectal(1306;2.33e-53)|COAD - Colon adenocarcinoma(196;1.05e-44)|KIRC - Kidney renal clear cell carcinoma(1967;0.000109)		ACCCAAAAATCGAATATCATT	0.448			"Mis, N, F"			"lieomyomatosis, renal"			Hereditary Leiomyomatosis and Renal Cell Cancer				T	241667422	C	T	241667422	3	4	364	1	0	0	0	0	1	0	0	0	5924	884	31	1	520	1	FH	1	241667422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	405387	241667422	7583199	1572	25074											
KMO	8564	broad.mit.edu	37	chr1	241718931	241718931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatattctttctgtaagcaGagaaaatctaaacaaggatc	16	12	7	6	0	3	1	0	0	3	1	4	3	3	2	0	1	2	3	0	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241718931G>T	ENST00000366559.4	+	5	643	c.332G>T	c.(331-333)aGa>aTa	p.R111I	KMO_ENST00000366558.3_Missense_Mutation_p.R111I|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R111I	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	111					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TCTGTAAGCAGAGAAAATCTA	0.308													T	241718931	G	T	241718931	3	4	364	1	0	0	0	0	1	0	0	0	8482	942	33	4	350	4	KMO	1	241718931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51509	241718931	7531690	1573	25075											
KMO	8564	broad.mit.edu	37	chr1	241725562	241725562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacctgatgaagaaacctcGctttgattacagtcagcagt	12	11	8	10	1	2	4	2	3	0	1	3	4	2	4	2	0	3	2	2	0	3	2	rs147782357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241725562G>A	ENST00000366559.4	+	7	856	c.545G>A	c.(544-546)cGc>cAc	p.R182H	KMO_ENST00000366558.3_Missense_Mutation_p.R182H|KMO_ENST00000484628.1_3'UTR|KMO_ENST00000366557.4_Missense_Mutation_p.R182H	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	182					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			AAGAAACCTCGCTTTGATTAC	0.443													A	241725562	G	A	241725562	3	1	364	1	0	0	0	0	1	0	0	0	8482	1087	38	1	571	1	KMO	1	241725562	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6631	241725562	7525059	1574	25076											
CHML	1122	broad.mit.edu	37	chr1	241797251	241797251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttggaggtggagggcaGaattcttcagttggaaagat	11	11	16	3	0	2	2	1	0	1	2	2	6	2	6	0	6	0	2	0	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241797251G>T	ENST00000366553.1	-	1	1981	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	606					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTGGAGGGCAGAATTCTTCAG	0.453													T	241797251	G	T	241797251	3	4	364	1	0	0	0	0	1	0	0	0	3381	933	33	4	156	4	CHML	1	241797251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71689	241797251	7453370	1575	25077											
CHML	1122	broad.mit.edu	37	chr1	241798768	241798768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgactggcgtagcaaaaagCttctgtgtgttgaatagttt	10	14	11	6	1	1	2	0	2	1	0	1	2	1	2	0	1	2	5	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241798768C>T	ENST00000366553.1	-	1	464	c.301G>A	c.(301-303)Gct>Act	p.A101T	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	101					intracellular protein transport|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			TAGCAAAAAGCTTCTGTGTGT	0.443													T	241798768	C	T	241798768	3	4	364	1	0	0	0	0	1	0	0	0	3381	797	28	2	1673	2	CHML	1	241798768	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1517	241798768	7451853	1576	25078											
WDR64	128025	broad.mit.edu	37	chr1	241904950	241904950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtactcactatctgctCtgaatccataattagggtaa	13	13	6	9	0	4	1	2	1	2	0	5	1	5	1	1	1	2	3	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:241904950C>A	ENST00000366552.2	+	11	1631	c.1424C>A	c.(1423-1425)tCt>tAt	p.S475Y	WDR64_ENST00000437684.2_Missense_Mutation_p.S475Y	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	475										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			ACTATCTGCTCTGAATCCATA	0.318													A	241904950	C	A	241904950	3	1	364	1	0	0	0	0	1	0	0	0	17417	913	32	4	1466	4	WDR64	1	241904950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106182	241904950	7345671	1577	25079											
EXO1	9156	broad.mit.edu	37	chr1	242024777	242024777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaatacttttgaacagatCgatgactacaatccagacac	17	10	5	9	1	0	4	0	2	0	2	2	5	1	4	1	0	3	0	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:242024777C>T	ENST00000366548.3	+	10	1607	c.1014C>T	c.(1012-1014)atC>atT	p.I338I	EXO1_ENST00000518483.1_Silent_p.I338I|EXO1_ENST00000348581.5_Silent_p.I338I	NM_130398.3	NP_569082.2	Q9UQ84	EXO1_HUMAN	exonuclease 1	338	Interaction with MSH3.				meiosis|mismatch repair	nucleus	double-stranded DNA specific 5'-3' exodeoxyribonuclease activity|flap endonuclease activity|metal ion binding|protein binding|ribonuclease H activity|single-stranded DNA specific 5'-3' exodeoxyribonuclease activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(3)|lung(29)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	45	Ovarian(103;0.103)	all_cancers(173;0.0555)	OV - Ovarian serous cystadenocarcinoma(106;0.0107)			TTGAACAGATCGATGACTACA	0.343								Editing and processing nucleases					T	242024777	C	T	242024777	2	4	364	1	0	0	0	0	0	0	0	1	5341	874	31	1		1	EXO1	1	242024777	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119827	242024777	7225844	1578	25080											
CEP170	9859	broad.mit.edu	37	chr1	243303270	243303270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggttctccgccttgtaAttgttaagtgatcgggaggc	7	13	12	9	2	1	1	0	1	1	0	4	2	2	2	3	3	0	3	3	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243303270A>C	ENST00000366542.1	-	16	4250	c.4199T>G	c.(4198-4200)aTt>aGt	p.I1400S	CEP170_ENST00000490813.1_Missense_Mutation_p.I109S|CEP170_ENST00000481987.1_Missense_Mutation_p.I136S|RP11-261C10.5_ENST00000439562.1_RNA|CEP170_ENST00000366543.1_Missense_Mutation_p.I1276S|CEP170_ENST00000468254.1_5'UTR|CEP170_ENST00000366544.1_Missense_Mutation_p.I1302S	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1400	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			CCGCCTTGTAATTGTTAAGTG	0.428													C	243303270	A	C	243303270	3	2	364	1	0	0	0	0	1	0	0	0	3280	101	4	5	575	5	CEP170	1	243303270	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1278493	243303270	5947351	1579	25081											
CEP170	9859	broad.mit.edu	37	chr1	243327874	243327874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatgtagaacttgttgTggatacttcagaagcaacag	12	14	10	5	0	1	3	1	1	0	2	1	4	1	4	0	1	4	3	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327874T>C	ENST00000366542.1	-	13	3439	c.3388A>G	c.(3388-3390)Aca>Gca	p.T1130A	CEP170_ENST00000366543.1_Missense_Mutation_p.T1032A|CEP170_ENST00000366544.1_Missense_Mutation_p.T1032A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1130	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			GAACTTGTTGTGGATACTTCA	0.488													C	243327874	T	C	243327874	3	2	364	1	0	0	0	0	1	0	0	0	3280	1696	59	3	1428	3	CEP170	1	243327874	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24604	243327874	5922747	1580	25082											
CEP170	9859	broad.mit.edu	37	chr1	243327909	243327909	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacagatgctttgtcagcaTcagcaagttcactgtctgaa	12	11	8	10	0	4	2	3	1	1	1	4	2	4	2	0	0	4	4	0	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243327909T>G	ENST00000366542.1	-	13	3404	c.3353A>C	c.(3352-3354)gAt>gCt	p.D1118A	CEP170_ENST00000366543.1_Missense_Mutation_p.D1020A|CEP170_ENST00000366544.1_Missense_Mutation_p.D1020A	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1118	Targeting to centrosomes.|Targeting to microtubules.					centriole|microtubule|spindle				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTGTCAGCATCAGCAAGTTC	0.473													G	243327909	T	G	243327909	3	3	364	1	0	0	0	0	1	0	0	0	3280	1435	50	5	1463	5	CEP170	1	243327909	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35	243327909	5922712	1581	25083											
SDCCAG8	10806	broad.mit.edu	37	chr1	243504455	243504455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcaaagccagctggcttctCgggaaatggatgtcacaaag	12	9	11	9	1	3	0	2	0	1	0	4	2	3	2	1	3	2	2	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:243504455C>T	ENST00000366541.3	+	11	1454	c.1336C>T	c.(1336-1338)Cgg>Tgg	p.R446W	SDCCAG8_ENST00000355875.4_Missense_Mutation_p.R403W|SDCCAG8_ENST00000343783.6_Missense_Mutation_p.R301W	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	446	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		GCTGGCTTCTCGGGAAATGGA	0.373													T	243504455	C	T	243504455	3	4	364	1	0	0	0	0	1	0	0	0	14052	875	31	1	1378	1	SDCCAG8	1	243504455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176546	243504455	5746166	1582	25084											
C1orf101	257044	broad.mit.edu	37	chr1	244756882	244756882	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaacctgtggttcaactgTaagtatattctcatcaacat	12	15	5	9	0	4	0	4	0	1	0	5	0	4	0	1	1	3	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:244756882T>C	ENST00000366534.4	+	17	2357		c.e17+2		C1orf101_ENST00000366533.4_Splice_Site|C1orf101_ENST00000366531.3_Splice_Site|C1orf101_ENST00000473875.1_Splice_Site	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101							integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			GGTTCAACTGTAAGTATATTC	0.348													C	244756882	T	C	244756882	5	2	364	1	0	0	0	0	0	0	1	0	1996	1652	57	3	2371	3	C1orf101	1	244756882	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1252427	244756882	4493739	1583	25085											
HNRNPU	3192	broad.mit.edu	37	chr1	245018277	245018277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acataagaaattacttacacCctgctgccactggttgtagc	12	11	7	11	0	0	1	0	0	0	1	0	1	0	1	2	1	5	3	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245018277C>A	ENST00000444376.2	-	13	2599	c.2365G>T	c.(2365-2367)Ggt>Tgt	p.G789C	HNRNPU_ENST00000283179.9_Missense_Mutation_p.G808C|HNRNPU-AS1_ENST00000475997.1_RNA	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	808	Gly-rich.				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TTACTTACACCCTGCTGCCAC	0.368													A	245018277	C	A	245018277	3	1	364	1	0	0	0	0	1	0	0	0	7328	623	22	4	63	4	HNRNPU	1	245018277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261395	245018277	4232344	1584	25086											
HNRNPU	3192	broad.mit.edu	37	chr1	245027151	245027151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgtgcccgttctcgtcGcccgcgccttcctcttcgtc	0	12	8	21	7	2	0	0	0	2	0	8	0	4	0	6	0	1	1	6	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245027151G>A	ENST00000444376.2	-	1	693	c.459C>T	c.(457-459)ggC>ggT	p.G153G	HNRNPU_ENST00000283179.9_Silent_p.G153G	NM_004501.3|NM_031844.2	NP_004492.2|NP_114032.2	Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	153	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization	catalytic step 2 spliceosome|cell surface|CRD-mediated mRNA stability complex|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	ATP binding|DNA binding|protein binding|RNA binding	p.G153G(2)		NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			CGTTCTCGTCGCCCGCGCCTT	0.692													A	245027151	G	A	245027151	2	1	364	1	0	0	0	0	0	0	0	1	7328	1074	38	1		1	HNRNPU	1	245027151	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8874	245027151	4223470	1585	25087											
KIF26B	55083	broad.mit.edu	37	chr1	245847663	245847663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccaccatccagattgcatCgagagtcttgaggatgaaga	12	9	11	9	1	1	5	0	2	1	3	4	7	3	6	3	1	1	1	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:245847663C>T	ENST00000366518.4	+	8	1348	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	KIF26B_ENST00000407071.2_Missense_Mutation_p.S796L			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	796					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CAGATTGCATCGAGAGTCTTG	0.597													T	245847663	C	T	245847663	3	4	364	1	0	0	0	0	1	0	0	0	8353	893	31	1	2429	1	KIF26B	1	245847663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820512	245847663	3402958	1586	25088											
TFB2M	64216	broad.mit.edu	37	chr1	246729428	246729428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgaggaagcccgaccaCtgggatccacatgtccttgt	8	7	11	15	3	0	0	0	0	0	0	2	4	2	2	6	2	1	0	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246729428C>A	ENST00000366514.4	-	1	198	c.13G>T	c.(13-15)Gtg>Ttg	p.V5L	TFB2M_ENST00000544618.1_Missense_Mutation_p.V5L	NM_022366.2	NP_071761.1	Q9H5Q4	TFB2M_HUMAN	transcription factor B2, mitochondrial	5					positive regulation of transcription, DNA-dependent|transcription initiation from mitochondrial promoter	mitochondrial nucleoid	protein binding|rRNA (adenine-N6,N6-)-dimethyltransferase activity|transcription cofactor activity			breast(1)|endometrium(1)|kidney(12)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(71;4.25e-05)|all_epithelial(71;4.92e-06)|Ovarian(71;0.0254)|all_lung(81;0.0272)|Breast(184;0.0318)|Lung NSC(105;0.0376)		OV - Ovarian serous cystadenocarcinoma(106;0.00358)			AGCCCGACCACTGGGATCCAC	0.597													A	246729428	C	A	246729428	3	1	364	1	0	0	0	0	1	0	0	0	15894	565	20	4	1209	4	TFB2M	1	246729428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	881765	246729428	2521193	1587	25089											
CNST	163882	broad.mit.edu	37	chr1	246805289	246805289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaaatgctccacgcagtTactagtgtctgaagatccaa	14	9	9	9	1	1	2	0	1	1	1	3	3	3	3	2	1	2	3	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246805289T>C	ENST00000366513.4	+	8	1156	c.887T>C	c.(886-888)tTa>tCa	p.L296S	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.L296S	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	296					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCCACGCAGTTACTAGTGTCT	0.408													C	246805289	T	C	246805289	3	2	364	1	0	0	0	0	1	0	0	0	3665	1764	61	3	913	3	CNST	1	246805289	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75861	246805289	2445332	1588	25090											
CNST	163882	broad.mit.edu	37	chr1	246829045	246829045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttgctggtcttgctgtgCatagcaacggttttcctcag	6	16	10	9	1	2	0	1	0	1	0	3	0	3	0	1	2	5	5	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246829045C>T	ENST00000366513.4	+	11	2285	c.2016C>T	c.(2014-2016)tgC>tgT	p.C672C		NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	672					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TCTTGCTGTGCATAGCAACGG	0.448													T	246829045	C	T	246829045	2	4	364	1	0	0	0	0	0	0	0	1	3665	718	25	2		2	CNST	1	246829045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23756	246829045	2421576	1589	25091											
SCCPDH	51097	broad.mit.edu	37	chr1	246923291	246923291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatgtaactgtgggaggCatcacctctgttattaagct	9	13	11	8	1	2	0	1	0	1	0	2	1	2	1	1	2	2	5	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:246923291C>T	ENST00000366510.3	+	8	1222	c.846C>T	c.(844-846)ggC>ggT	p.G282G		NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	saccharopine dehydrogenase (putative)	282						midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		CTGTGGGAGGCATCACCTCTG	0.373													T	246923291	C	T	246923291	2	4	364	1	0	0	0	0	0	0	0	1	13977	697	25	2		2	SCCPDH	1	246923291	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94246	246923291	2327330	1590	25092											
AHCTF1	25909	broad.mit.edu	37	chr1	247013360	247013360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttagatcctacatcttcaGatggattgatttttcttggt	8	18	7	8	0	3	3	1	1	2	2	4	4	4	4	2	2	1	0	2	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247013360G>T	ENST00000366508.1	-	33	6189	c.6053C>A	c.(6052-6054)tCt>tAt	p.S2018Y	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1992Y|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1983Y			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1983	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TACATCTTCAGATGGATTGAT	0.418													T	247013360	G	T	247013360	3	4	364	1	0	0	0	0	1	0	0	0	408	942	33	4	868	4	AHCTF1	1	247013360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90069	247013360	2237261	1591	25093											
AHCTF1	25909	broad.mit.edu	37	chr1	247030630	247030630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcgaatacactataGgagatggttcttctatttta	11	14	10	6	1	2	1	0	0	2	1	2	4	2	2	0	3	2	1	0	3	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247030630G>T	ENST00000366508.1	-	26	3504	c.3368C>A	c.(3367-3369)cCt>cAt	p.P1123H	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.P1097H|AHCTF1_ENST00000391829.2_Missense_Mutation_p.P1088H			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1088					cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATACACTATAGGAGATGGTTC	0.363													T	247030630	G	T	247030630	3	4	364	1	0	0	0	0	1	0	0	0	408	1000	35	4	3581	4	AHCTF1	1	247030630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17270	247030630	2219991	1592	25094											
AHCTF1	25909	broad.mit.edu	37	chr1	247053278	247053278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttactataccttgataaacGctcaaacttctgtcgacgac	12	13	5	11	3	2	1	1	1	1	0	3	3	2	1	1	0	4	1	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247053278G>A	ENST00000366508.1	-	17	2375	c.2239C>T	c.(2239-2241)Cgt>Tgt	p.R747C	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000326225.3_Missense_Mutation_p.R721C|AHCTF1_ENST00000391829.2_Missense_Mutation_p.R712C			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	712	Necessary for cytoplasmic localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			CTTGATAAACGCTCAAACTTC	0.338													A	247053278	G	A	247053278	3	1	364	1	0	0	0	0	1	0	0	0	408	1087	38	1	4746	1	AHCTF1	1	247053278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22648	247053278	2197343	1593	25095											
ZNF695	57116	broad.mit.edu	37	chr1	247151450	247151450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcccagtcattccttaagcGtaatttctcaagacaacatc	12	13	4	12	1	2	1	2	0	1	1	6	1	4	1	2	0	2	1	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247151450G>A	ENST00000339986.7	-	4	514	c.367C>T	c.(367-369)Cgc>Tgc	p.R123C	ZNF695_ENST00000498046.2_5'UTR|ZNF695_ENST00000487338.2_Missense_Mutation_p.R123C	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	123					regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTAAGCGTAATTTCTCA	0.403													A	247151450	G	A	247151450	3	1	364	1	0	0	0	0	1	0	0	0	18199	1145	40	1	1184	1	ZNF695	1	247151450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98172	247151450	2099171	1594	25096											
ZNF695	57116	broad.mit.edu	37	chr1	247163244	247163244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaattgcatattgaagctatCctcaccaagggagatcaggt	13	10	10	8	0	2	2	2	1	0	1	3	4	3	2	2	2	2	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247163244C>T	ENST00000339986.7	-	2	283	c.136G>A	c.(136-138)Gat>Aat	p.D46N	ZNF695_ENST00000498046.2_Intron|ZNF695_ENST00000487338.2_Missense_Mutation_p.D46N	NM_020394.4	NP_065127	Q8IW36	ZN695_HUMAN	zinc finger protein 695	46	KRAB.				regulation of transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	13	all_cancers(71;4.01e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTGAAGCTATCCTCACCAAGG	0.418													T	247163244	C	T	247163244	3	4	364	1	0	0	0	0	1	0	0	0	18199	855	30	2	1423	2	ZNF695	1	247163244	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11794	247163244	2087377	1595	25097											
ZNF669	79862	broad.mit.edu	37	chr1	247263863	247263863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtggaggtgaagggaaCtgaggcgactgaaggcttga	10	9	17	5	2	0	4	0	4	0	0	1	7	0	6	0	5	1	1	0	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247263863C>T	ENST00000343381.6	-	4	1380	c.1208G>A	c.(1207-1209)aGt>aAt	p.S403N	ZNF669_ENST00000358785.4_3'UTR|ZNF669_ENST00000448299.2_Missense_Mutation_p.S317N	NM_024804.2	NP_079080.2	Q96BR6	ZN669_HUMAN	zinc finger protein 669	403					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(2)|lung(6)	17	all_cancers(71;4.09e-05)|all_epithelial(71;6.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0283)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00427)			GTGAAGGGAACTGAGGCGACT	0.438													T	247263863	C	T	247263863	3	4	364	1	0	0	0	0	1	0	0	0	18177	565	20	2	190	2	ZNF669	1	247263863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100619	247263863	1986758	1596	25098											
ZNF124	7678	broad.mit.edu	37	chr1	247320254	247320254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgtgagttctttcatGgtaatgaaggcaattggagt	10	14	12	5	0	2	2	1	2	1	0	3	3	3	3	1	3	0	3	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247320254G>A	ENST00000340684.6	-	4	622	c.484C>T	c.(484-486)Cat>Tat	p.H162Y	ZNF124_ENST00000491356.1_Intron|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000472531.1_Intron|ZNF124_ENST00000543802.2_Missense_Mutation_p.H224Y	NM_003431.2	NP_003422.2	Q15973	ZN124_HUMAN	zinc finger protein 124	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			GTTCTTTCATGGTAATGAAGG	0.443													A	247320254	G	A	247320254	3	1	364	1	0	0	0	0	1	0	0	0	17821	1348	47	2	389	2	ZNF124	1	247320254	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56391	247320254	1930367	1597	25099											
ZNF496	84838	broad.mit.edu	37	chr1	247463865	247463865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggcgcttcatgtgcaGgcgctcgtggcggaggaggt	6	7	19	9	5	1	0	1	0	0	0	2	3	1	3	0	7	2	3	0	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247463865G>T	ENST00000294753.4	-	9	2184	c.1720C>A	c.(1720-1722)Ctg>Atg	p.L574M	ZNF496_ENST00000366498.2_Missense_Mutation_p.L610M|ZNF496_ENST00000462139.1_5'UTR	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	574					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			TTCATGTGCAGGCGCTCGTGG	0.637													T	247463865	G	T	247463865	3	4	364	1	0	0	0	0	1	0	0	0	18046	991	35	4	47	4	ZNF496	1	247463865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143611	247463865	1786756	1598	25100											
ZNF496	84838	broad.mit.edu	37	chr1	247492096	247492096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcgctgtggggctctaccgGcagctgctcctgctcctggt	2	11	14	14	2	1	0	0	0	1	0	4	0	3	0	3	4	4	6	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492096G>T	ENST00000294753.4	-	4	927	c.463C>A	c.(463-465)Ccg>Acg	p.P155T	ZNF496_ENST00000366498.2_Missense_Mutation_p.P155T	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	155					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGCTCTACCGGCAGCTGCTCC	0.602													T	247492096	G	T	247492096	3	4	364	1	0	0	0	0	1	0	0	0	18046	1203	42	4	1324	4	ZNF496	1	247492096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28231	247492096	1758525	1599	25101											
ZNF496	84838	broad.mit.edu	37	chr1	247492713	247492713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcgctgcagggcctcccgGgggcccgccgcctcctggta	3	5	16	17	4	0	0	0	0	0	0	2	0	2	0	6	5	1	3	6	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492713G>A	ENST00000294753.4	-	3	632	c.168C>T	c.(166-168)ccC>ccT	p.P56P	ZNF496_ENST00000366498.2_Silent_p.P56P	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	56	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			GGGCCTCCCGGGGGCCCGCCG	0.706													A	247492713	G	A	247492713	2	1	364	1	0	0	0	0	0	0	0	1	18046	1219	43	2		2	ZNF496	1	247492713	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	617	247492713	1757908	1600	25102											
ZNF496	84838	broad.mit.edu	37	chr1	247492846	247492846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcctcactttccttcGgagccaagactcgggggcac	6	9	12	14	2	1	1	1	0	0	1	5	2	3	2	3	4	1	2	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247492846G>A	ENST00000294753.4	-	3	499	c.35C>T	c.(34-36)cCg>cTg	p.P12L	ZNF496_ENST00000366498.2_Missense_Mutation_p.P12L	NM_032752.1	NP_116141.1	Q96IT1	ZN496_HUMAN	zinc finger protein 496	12					positive regulation of transcription, DNA-dependent|viral reproduction		DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	36	all_cancers(71;0.000136)|all_epithelial(71;2.62e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0607)|Lung NSC(105;0.0661)		OV - Ovarian serous cystadenocarcinoma(106;0.00703)			ACTTTCCTTCGGAGCCAAGAC	0.592													A	247492846	G	A	247492846	3	1	364	1	0	0	0	0	1	0	0	0	18046	1116	39	1	1756	1	ZNF496	1	247492846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	247492846	1757775	1601	25103											
OR2B11	127623	broad.mit.edu	37	chr1	247614479	247614479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccctgctcttgggagtagCtggaagggggctgcagatac	7	9	16	9	0	1	1	0	0	1	1	1	3	1	3	1	4	5	5	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247614479C>T	ENST00000318749.6	-	1	829	c.806G>A	c.(805-807)aGc>aAc	p.S269N		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TTGGGAGTAGCTGGAAGGGGG	0.483													T	247614479	C	T	247614479	3	4	364	1	0	0	0	0	1	0	0	0	11064	797	28	2	150	2	OR2B11	1	247614479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121633	247614479	1636142	1602	25104											
OR2C3	81472	broad.mit.edu	37	chr1	247695568	247695568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtccccagaggttagccagGagctgtgggacaatgctcgt	8	8	15	10	1	0	1	0	0	0	1	2	3	1	3	3	4	3	3	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247695568G>A	ENST00000366487.3	-	2	607	c.246C>T	c.(244-246)ctC>ctT	p.L82L	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527541.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			GGTTAGCCAGGAGCTGTGGGA	0.537													A	247695568	G	A	247695568	2	1	364	1	0	0	0	0	0	0	0	1	11069	1161	41	2		2	OR2C3	1	247695568	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81089	247695568	1555053	1603	25105											
OR2G2	81470	broad.mit.edu	37	chr1	247751701	247751701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgagagcaacctagcaGgtttcatccttttagggttt	10	13	9	9	0	1	1	1	1	0	1	2	2	2	1	3	2	3	4	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751701G>T	ENST00000320065.1	+	1	40	c.40G>T	c.(40-42)Ggt>Tgt	p.G14C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CAACCTAGCAGGTTTCATCCT	0.403													T	247751701	G	T	247751701	3	4	364	1	0	0	0	0	1	0	0	0	11074	1000	35	4	42	4	OR2G2	1	247751701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56133	247751701	1498920	1604	25106											
OR2G2	81470	broad.mit.edu	37	chr1	247751882	247751882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctctccttcctgtaccGctgcttcaccagcagtgtta	6	14	6	15	1	3	0	2	0	1	0	6	0	5	0	4	0	3	5	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247751882G>A	ENST00000320065.1	+	1	221	c.221G>A	c.(220-222)cGc>cAc	p.R74H	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R74H(1)		endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TTCCTGTACCGCTGCTTCACC	0.473													A	247751882	G	A	247751882	3	1	364	1	0	0	0	0	1	0	0	0	11074	1087	38	1	223	1	OR2G2	1	247751882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181	247751882	1498739	1605	25107											
OR2G2	81470	broad.mit.edu	37	chr1	247752103	247752103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatctctgcatggccttgGcatctatggcatggctcagt	6	13	10	12	0	3	0	1	0	2	0	5	0	4	0	2	4	1	4	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247752103G>A	ENST00000320065.1	+	1	442	c.442G>A	c.(442-444)Gca>Aca	p.A148T	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CATGGCCTTGGCATCTATGGC	0.557													A	247752103	G	A	247752103	3	1	364	1	0	0	0	0	1	0	0	0	11074	1203	42	2	444	2	OR2G2	1	247752103	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221	247752103	1498518	1606	25108											
OR13G1	441933	broad.mit.edu	37	chr1	247836050	247836050	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaccatgtgaacaagaaGagctgggacatgcagcctgc	14	5	13	9	0	0	4	0	1	0	3	0	6	0	5	2	1	5	2	2	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836050G>T	ENST00000359688.2	-	1	315	c.294C>A	c.(292-294)ctC>ctA	p.L98L	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGAACAAGAAGAGCTGGGACA	0.468													T	247836050	G	T	247836050	2	4	364	1	0	0	0	0	0	0	0	1	11018	929	33	4		4	OR13G1	1	247836050	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83947	247836050	1414571	1607	25109											
OR13G1	441933	broad.mit.edu	37	chr1	247836181	247836181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaaggaaaacatacatggGcgtatgcaaggtgttgttat	14	10	12	5	1	0	1	0	0	0	1	0	2	0	2	0	3	3	4	0	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247836181G>A	ENST00000359688.2	-	1	184	c.163C>T	c.(163-165)Ccc>Tcc	p.P55S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ACATACATGGGCGTATGCAAG	0.423													A	247836181	G	A	247836181	3	1	364	1	0	0	0	0	1	0	0	0	11018	1203	42	2	764	2	OR13G1	1	247836181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131	247836181	1414440	1608	25110											
OR6F1	343169	broad.mit.edu	37	chr1	247875949	247875949	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacattaccactaactgtgaGgatgtacatcaccagaaaaa	17	8	6	10	0	1	2	1	1	0	1	1	3	1	3	2	1	3	1	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247875949G>T	ENST00000302084.2	-	1	156	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTAACTGTGAGGATGTACATC	0.468													T	247875949	G	T	247875949	3	4	364	1	0	0	0	0	1	0	0	0	11277	1000	35	4	821	4	OR6F1	1	247875949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39768	247875949	1374672	1609	25111											
OR14A16	284532	broad.mit.edu	37	chr1	247978154	247978154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccagagccacctttatgGccttgtttctcaaactgtat	8	14	6	13	0	1	1	1	0	1	1	3	1	2	1	5	1	2	2	5	1	3	5	rs111974834		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:247978154G>A	ENST00000357627.1	-	1	877	c.878C>T	c.(877-879)gCc>gTc	p.A293V		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						CACCTTTATGGCCTTGTTTCT	0.378													A	247978154	G	A	247978154	3	1	364	1	0	0	0	0	1	0	0	0	11021	1203	42	2	55	2	OR14A16	1	247978154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102205	247978154	1272467	1610	25112											
OR2W3	343171	broad.mit.edu	37	chr1	248059271	248059271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccggtgtgtggctatctgcaAgcccctgcactacatggtga	7	10	12	12	1	1	1	0	1	1	0	1	1	1	1	3	3	4	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059271A>T	ENST00000537741.1	+	3	640	c.383A>T	c.(382-384)aAg>aTg	p.K128M	OR2W3_ENST00000360358.3_Missense_Mutation_p.K128M			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	128					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCTATCTGCAAGCCCCTGCAC	0.607													T	248059271	A	T	248059271	3	4	364	1	0	0	0	0	1	0	0	0	11109	72	3	5	385	5	OR2W3	1	248059271	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81117	248059271	1191350	1611	25113											
OR2W3	343171	broad.mit.edu	37	chr1	248059544	248059544	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttatcctgctctcttacaGctacattgtgagggctgtgt	6	16	10	9	0	1	1	0	1	1	0	3	1	2	1	1	1	4	4	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248059544G>T	ENST00000537741.1	+	3	913	c.656G>T	c.(655-657)aGc>aTc	p.S219I	OR2W3_ENST00000360358.3_Missense_Mutation_p.S219I			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTCTCTTACAGCTACATTGTG	0.562													T	248059544	G	T	248059544	3	4	364	1	0	0	0	0	1	0	0	0	11109	971	34	4	658	4	OR2W3	1	248059544	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273	248059544	1191077	1612	25114											
OR2L2	26246	broad.mit.edu	37	chr1	248202053	248202053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgctcacacagtatatGcactctgtatcccatattgc	9	14	6	12	0	2	0	1	0	1	0	3	0	3	0	1	0	3	4	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248202053G>A	ENST00000366479.2	+	1	580	c.484G>A	c.(484-486)Gca>Aca	p.A162T	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CACAGTATATGCACTCTGTAT	0.428													A	248202053	G	A	248202053	3	1	364	1	0	0	0	0	1	0	0	0	11083	1319	46	2	486	2	OR2L2	1	248202053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142509	248202053	1048568	1613	25115											
OR2M5	127059	broad.mit.edu	37	chr1	248308611	248308611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctacctggacacccaGctccacacccccatgtactt	9	9	4	19	0	2	0	1	0	1	0	3	1	3	1	5	1	3	2	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308611G>T	ENST00000366476.1	+	1	162	c.162G>T	c.(160-162)caG>caT	p.Q54H		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TGGACACCCAGCTCCACACCC	0.532													T	248308611	G	T	248308611	3	4	364	1	0	0	0	0	1	0	0	0	11089	962	34	4	164	4	OR2M5	1	248308611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106558	248308611	942010	1614	25116											
OR2M5	127059	broad.mit.edu	37	chr1	248308747	248308747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggctggttgtgccacaCaaattttcttctatgtatca	9	16	7	9	0	3	0	1	0	2	0	3	0	3	0	1	2	1	3	1	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248308747C>T	ENST00000366476.1	+	1	298	c.298C>T	c.(298-300)Caa>Taa	p.Q100*		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTGTGCCACACAAATTTTCTT	0.463													T	248308747	C	T	248308747	4	4	364	1	0	0	0	0	0	1	0	0	11089	479	17	2	300	2	OR2M5	1	248308747	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136	248308747	941874	1615	25117											
OR2M3	127062	broad.mit.edu	37	chr1	248366786	248366786	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaatctcatgagccctaaAatttgtggacttatgactgc	12	12	7	10	0	1	2	1	2	1	0	2	3	1	3	2	1	2	0	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248366786A>C	ENST00000456743.1	+	1	455	c.417A>C	c.(415-417)aaA>aaC	p.K139N		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TGAGCCCTAAAATTTGTGGAC	0.468													C	248366786	A	C	248366786	3	2	364	1	0	0	0	0	1	0	0	0	11087	11	1	5	419	5	OR2M3	1	248366786	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58039	248366786	883835	1616	25118											
OR2M7	391196	broad.mit.edu	37	chr1	248487549	248487549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaagcattcggagccaaGcaatgatatatagaagaaaa	20	6	9	6	1	0	4	0	1	0	3	1	5	0	5	1	1	3	2	1	1	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248487549G>A	ENST00000317965.2	-	1	350	c.322C>T	c.(322-324)Ctt>Ttt	p.L108F		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCGGAGCCAAGCAATGATATA	0.453													A	248487549	G	A	248487549	3	1	364	1	0	0	0	0	1	0	0	0	11090	971	34	2	619	2	OR2M7	1	248487549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120763	248487549	763072	1617	25119											
OR2G6	391211	broad.mit.edu	37	chr1	248685655	248685655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgcgggccgccaaaaGgcctttgggacctgttcgtc	6	9	13	13	3	1	0	1	0	0	0	3	1	1	1	4	3	2	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685655G>T	ENST00000343414.4	+	1	740	c.708G>T	c.(706-708)aaG>aaT	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458													T	248685655	G	T	248685655	3	4	364	1	0	0	0	0	1	0	0	0	11076	991	35	4	710	4	OR2G6	1	248685655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198106	248685655	564966	1618	25120											
OR2G6	391211	broad.mit.edu	37	chr1	248685842	248685842	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaacaaagatgtgaaaGgggccttgaggaccctgata	15	7	13	6	0	0	5	0	4	0	2	0	7	0	6	2	3	1	0	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248685842G>T	ENST00000343414.4	+	1	927	c.895G>T	c.(895-897)Ggg>Tgg	p.G299W		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGATGTGAAAGGGGCCTTGAG	0.448													T	248685842	G	T	248685842	3	4	364	1	0	0	0	0	1	0	0	0	11076	1000	35	4	897	4	OR2G6	1	248685842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187	248685842	564779	1619	25121											
OR2T10	127069	broad.mit.edu	37	chr1	248756344	248756344	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaccactgtaatgtgggaGgagcaggtggtgaaggcctt	9	9	16	7	0	0	2	0	2	0	0	0	4	0	4	2	5	1	2	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756344G>T	ENST00000330500.2	-	1	756	c.726C>A	c.(724-726)tcC>tcA	p.S242S		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAATGTGGGAGGAGCAGGTGG	0.463													T	248756344	G	T	248756344	2	4	364	1	0	0	0	0	0	0	0	1	11093	987	35	4		4	OR2T10	1	248756344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70502	248756344	494277	1620	25122											
OR2T10	127069	broad.mit.edu	37	chr1	248756983	248756983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatatactgaagataagCaagcagaggcggccagggtg	17	5	13	6	1	0	3	0	1	0	2	0	3	0	3	1	3	3	2	1	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248756983C>T	ENST00000330500.2	-	1	117	c.87G>A	c.(85-87)ttG>ttA	p.L29L		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGAAGATAAGCAAGCAGAGGC	0.473													T	248756983	C	T	248756983	2	4	364	1	0	0	0	0	0	0	0	1	11093	709	25	2		2	OR2T10	1	248756983	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	639	248756983	493638	1621	25123											
OR2T11	127077	broad.mit.edu	37	chr1	248789612	248789612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcgtgacaatggtatagaagGctgacactactttgtcctgc	10	11	11	9	1	0	3	0	2	0	1	1	3	1	3	1	2	2	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789612G>A	ENST00000330803.2	-	1	879	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGTATAGAAGGCTGACACTAC	0.488													A	248789612	G	A	248789612	3	1	364	1	0	0	0	0	1	0	0	0	11094	1203	42	2	136	2	OR2T11	1	248789612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32629	248789612	461009	1622	25124											
OR2T11	127077	broad.mit.edu	37	chr1	248789891	248789891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggccagtttcagaactGctgggatctcacagaaaaaa	15	7	9	10	0	2	2	2	0	1	2	3	3	2	3	1	2	2	2	1	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789891G>A	ENST00000330803.2	-	1	600	c.539C>T	c.(538-540)gCa>gTa	p.A180V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTTCAGAACTGCTGGGATCTC	0.493													A	248789891	G	A	248789891	3	1	364	1	0	0	0	0	1	0	0	0	11094	1319	46	2	415	2	OR2T11	1	248789891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	279	248789891	460730	1623	25125											
OR2T11	127077	broad.mit.edu	37	chr1	248789941	248789941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcgggagccacagtaaggGacattcatggtgatgggagt	10	9	15	7	1	1	1	1	1	0	0	2	4	1	4	1	4	1	1	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248789941G>A	ENST00000330803.2	-	1	550	c.489C>T	c.(487-489)gtC>gtT	p.V163V		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CACAGTAAGGGACATTCATGG	0.512													A	248789941	G	A	248789941	2	1	364	1	0	0	0	0	0	0	0	1	11094	1161	41	2		2	OR2T11	1	248789941	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	248789941	460680	1624	25126											
OR14I1	401994	broad.mit.edu	37	chr1	248845564	248845564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcccagataccagaaaaCtccatcagcaggaattctgt	14	8	7	12	0	2	2	1	0	1	2	4	3	4	3	3	1	4	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:248845564C>T	ENST00000342623.3	-	1	65	c.42G>A	c.(40-42)gaG>gaA	p.E14E		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TACCAGAAAACTCCATCAGCA	0.448													T	248845564	C	T	248845564	2	4	364	1	0	0	0	0	0	0	0	1	11023	564	20	2		2	OR14I1	1	248845564	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55623	248845564	405057	1625	25127											
ZNF692	55657	broad.mit.edu	37	chr1	249151477	249151477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggaacaccaacttctcCgagtagtatgtggaagggag	11	8	12	10	2	1	0	0	0	1	0	3	4	1	3	3	3	2	2	3	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249151477C>T	ENST00000451251.1	-	4	791	c.446G>A	c.(445-447)cGg>cAg	p.R149Q	ZNF692_ENST00000366469.5_Missense_Mutation_p.R144Q|ZNF692_ENST00000366471.3_Missense_Mutation_p.R144Q|ZNF692_ENST00000306601.4_Missense_Mutation_p.R144Q|ZNF692_ENST00000468455.1_5'UTR|ZNF692_ENST00000427146.1_Missense_Mutation_p.R144Q	NM_001136036.2	NP_001129508.1	Q9BU19	ZN692_HUMAN	zinc finger protein 692	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)	17	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CCAACTTCTCCGAGTAGTATG	0.547													T	249151477	C	T	249151477	3	4	364	1	0	0	0	0	1	0	0	0	18198	652	23	1	1164	1	ZNF692	1	249151477	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	305913	249151477	99144	1626	25128											
PGBD2	267002	broad.mit.edu	37	chr1	249211110	249211110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagttgtgaaacctcaGcgcatttggaccaaaagaga	16	7	10	8	1	1	2	1	1	0	1	1	4	1	3	2	1	3	3	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211110G>T	ENST00000539153.1	+	4	573	c.318G>T	c.(316-318)caG>caT	p.Q106H	PGBD2_ENST00000355360.4_Intron|PGBD2_ENST00000462488.1_Intron|PGBD2_ENST00000329291.5_Missense_Mutation_p.Q109H			Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	109										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TGAAACCTCAGCGCATTTGGA	0.517													T	249211110	G	T	249211110	3	4	364	1	0	0	0	0	1	0	0	0	11858	962	34	4	333	4	PGBD2	1	249211110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59633	249211110	39511	1627	25129											
PGBD2	267002	broad.mit.edu	37	chr1	249211828	249211828	+	Frame_Shift_Del	DEL	T	T	-																															gttttctgccatatcacataTtttttgacaaggttttcaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249211828delT	ENST00000355360.4	+	3	562	c.292delT	c.(292-294)tttfs	p.F99fs	PGBD2_ENST00000329291.5_Frame_Shift_Del_p.F350fs|PGBD2_ENST00000539153.1_Frame_Shift_Del_p.F347fs	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	350										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			ATATCACATATTTTTTGACAA	0.438													-	249211828	T	-	249211828	7	5	364	1	0	1	0	1	0	0	0	0	11858	1493	52	0	1051	0	PGBD2	1	249211828	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	718	249211828	38793	1628	25130											
PGBD2	267002	broad.mit.edu	37	chr1	249212402	249212402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagggaggcgaagcaggcGgttggagactgagagccgct	10	5	18	8	3	1	2	1	1	0	2	1	6	1	3	1	5	2	3	1	5	2	1	rs139567720		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr1:249212402G>A	ENST00000355360.4	+	3	1136	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	PGBD2_ENST00000539153.1_Missense_Mutation_p.R537Q|PGBD2_ENST00000329291.5_Missense_Mutation_p.R540Q	NM_001017434.1	NP_001017434.1	Q6P3X8	PGBD2_HUMAN	piggyBac transposable element derived 2	540										NS(1)|endometrium(3)|lung(6)|ovary(1)|skin(3)	14	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.012)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CGAAGCAGGCGGTTGGAGACT	0.562													A	249212402	G	A	249212402	3	1	364	1	0	0	0	0	1	0	0	0	11858	1116	39	1	1625	1	PGBD2	1	249212402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	574	249212402	38219	1629	25131											
SNTG2	54221	broad.mit.edu	37	chr2	1241667	1241667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctccccaggtggaatGcgttcgaggtgctcgccctg	4	10	12	15	3	1	0	0	0	1	0	5	2	2	1	4	3	2	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1241667G>A	ENST00000308624.5	+	10	856	c.727G>A	c.(727-729)Gcg>Acg	p.A243T	SNTG2_ENST00000407292.1_Missense_Mutation_p.A116T	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	243					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CAGGTGGAATGCGTTCGAGGT	0.657													A	1241667	G	A	1241667	3	1	364	1	0	0	0	0	1	0	0	0	14969	1319	46	2	765	2	SNTG2	2	1241667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		1241667	241957706	1630	25132											
TPO	7173	broad.mit.edu	37	chr2	1418251	1418251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccttcttccccttcatctCgagagggaaagaactccttt	9	12	7	13	1	3	2	1	0	2	2	6	4	5	3	4	1	2	0	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1418251C>T	ENST00000345913.4	+	2	162	c.71C>T	c.(70-72)tCg>tTg	p.S24L	TPO_ENST00000497517.2_Intron|TPO_ENST00000539820.1_Missense_Mutation_p.S24L|TPO_ENST00000382198.1_Missense_Mutation_p.S24L|TPO_ENST00000329066.4_Missense_Mutation_p.S24L|TPO_ENST00000346956.3_Missense_Mutation_p.S24L|TPO_ENST00000382269.3_Missense_Mutation_p.S24L|TPO_ENST00000382201.3_Missense_Mutation_p.S24L|TPO_ENST00000349624.3_Missense_Mutation_p.S24L|TPO_ENST00000337415.3_Missense_Mutation_p.S24L	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	24					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	CCCTTCATCTCGAGAGGGAAA	0.453													T	1418251	C	T	1418251	3	4	364	1	0	0	0	0	1	0	0	0	16511	893	31	1	73	1	TPO	2	1418251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176584	1418251	241781122	1631	25133											
TPO	7173	broad.mit.edu	37	chr2	1491744	1491744	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatcaacctgcagaggggCcgggaccacgggctgccagg	8	4	15	14	2	1	1	1	0	0	1	2	2	2	2	5	5	3	2	5	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1491744C>T	ENST00000345913.4	+	10	1840	c.1749C>T	c.(1747-1749)ggC>ggT	p.G583G	TPO_ENST00000349624.3_Silent_p.G410G|TPO_ENST00000346956.3_Silent_p.G583G|TPO_ENST00000382198.1_Silent_p.G410G|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Silent_p.G583G|TPO_ENST00000329066.4_Silent_p.G583G	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	583					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCAGAGGGGCCGGGACCACG	0.592													T	1491744	C	T	1491744	2	4	364	1	0	0	0	0	0	0	0	1	16511	726	26	2		2	TPO	2	1491744	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73493	1491744	241707629	1632	25134											
TPO	7173	broad.mit.edu	37	chr2	1499859	1499859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgacaacactggcctcaCcagggtgcccatggatgcct	8	8	11	14	0	1	1	1	1	0	0	1	2	1	2	4	3	3	0	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1499859C>T	ENST00000345913.4	+	12	2196	c.2105C>T	c.(2104-2106)aCc>aTc	p.T702I	TPO_ENST00000349624.3_Missense_Mutation_p.T529I|TPO_ENST00000346956.3_Missense_Mutation_p.T702I|TPO_ENST00000382198.1_Missense_Mutation_p.T529I|TPO_ENST00000382201.3_Missense_Mutation_p.T645I|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.T702I|TPO_ENST00000329066.4_Missense_Mutation_p.T702I	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	702					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	ACTGGCCTCACCAGGGTGCCC	0.567													T	1499859	C	T	1499859	3	4	364	1	0	0	0	0	1	0	0	0	16511	507	18	2	2147	2	TPO	2	1499859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8115	1499859	241699514	1633	25135											
PXDN	7837	broad.mit.edu	37	chr2	1642691	1642691	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatttgtcccagatgcaTctgagcgtgtgctgaaggct	8	12	12	9	1	2	3	1	2	1	1	3	3	3	3	1	1	3	3	1	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1642691T>G	ENST00000252804.4	-	21	4183	c.4133A>C	c.(4132-4134)gAt>gCt	p.D1378A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1378					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCAGATGCATCTGAGCGTGT	0.537													G	1642691	T	G	1642691	3	3	364	1	0	0	0	0	1	0	0	0	12935	1435	50	5	318	5	PXDN	2	1642691	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	142832	1642691	241556682	1634	25136											
PXDN	7837	broad.mit.edu	37	chr2	1677432	1677432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggagacccgaagtacCtgagggtcacctcttgcgtc	8	9	11	13	2	2	2	1	1	1	1	3	4	2	2	4	2	3	1	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1677432C>A	ENST00000252804.4	-	9	1051	c.1001G>T	c.(1000-1002)aGg>aTg	p.R334M	PXDN_ENST00000483018.1_5'UTR	NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	334					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CCCGAAGTACCTGAGGGTCAC	0.552													A	1677432	C	A	1677432	3	1	364	1	0	0	0	0	1	0	0	0	12935	681	24	4	3498	4	PXDN	2	1677432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34741	1677432	241521941	1635	25137											
MYT1L	23040	broad.mit.edu	37	chr2	1795747	1795747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttccgtcaaagtagtcacGtaagcatcaaaattttgttc	13	14	6	8	2	3	0	3	0	0	0	5	0	4	0	1	0	1	4	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1795747G>A	ENST00000399161.2	-	25	4200	c.3453C>T	c.(3451-3453)taC>taT	p.Y1151Y	MYT1L_ENST00000428368.2_Silent_p.Y1149Y|MYT1L_ENST00000407844.1_Silent_p.Y149Y	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	1151					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		AAGTAGTCACGTAAGCATCAA	0.308													A	1795747	G	A	1795747	2	1	364	1	0	0	0	0	0	0	0	1	10183	1140	40	1		1	MYT1L	2	1795747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118315	1795747	241403626	1636	25138											
MYT1L	23040	broad.mit.edu	37	chr2	1855461	1855461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgtccagaaccatcacagCcaggcgtggggcacctacaa	12	6	10	13	1	1	1	1	0	0	1	2	1	2	1	4	3	3	1	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1855461C>T	ENST00000399161.2	-	19	3473	c.2726G>A	c.(2725-2727)gGc>gAc	p.G909D	MYT1L_ENST00000428368.2_Missense_Mutation_p.G907D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	909					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCATCACAGCCAGGCGTGGG	0.383													T	1855461	C	T	1855461	3	4	364	1	0	0	0	0	1	0	0	0	10183	739	26	2	862	2	MYT1L	2	1855461	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59714	1855461	241343912	1637	25139											
MYT1L	23040	broad.mit.edu	37	chr2	1891356	1891356	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtctttcttctagagccTcctggaatgggtccaagtct	7	13	9	12	1	4	1	0	0	4	1	6	2	6	2	4	2	1	0	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1891356T>A	ENST00000399161.2	-	17	3293	c.2546A>T	c.(2545-2547)gAg>gTg	p.E849V	MYT1L_ENST00000428368.2_Missense_Mutation_p.E847V	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	849					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTCTAGAGCCTCCTGGAATGG	0.527													A	1891356	T	A	1891356	3	1	364	1	0	0	0	0	1	0	0	0	10183	1551	54	5	1050	5	MYT1L	2	1891356	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35895	1891356	241308017	1638	25140											
MYT1L	23040	broad.mit.edu	37	chr2	1914072	1914072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctctggtgcttttccTgtgccttggccagtttctct	2	16	10	13	1	2	0	0	0	2	0	4	0	3	0	3	2	3	4	3	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1914072T>C	ENST00000399161.2	-	13	2504	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R	MYT1L_ENST00000428368.2_Missense_Mutation_p.Q584R	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	586					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTGCTTTTCCTGTGCCTTGGC	0.592													C	1914072	T	C	1914072	3	2	364	1	0	0	0	0	1	0	0	0	10183	1580	55	3	1855	3	MYT1L	2	1914072	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22716	1914072	241285301	1639	25141											
MYT1L	23040	broad.mit.edu	37	chr2	1982978	1982978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgacatgaccactgccGtcacagccaggggtgggaca	10	5	12	14	1	1	2	1	2	0	0	1	3	1	3	4	3	2	0	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:1982978G>A	ENST00000399161.2	-	8	858	c.111C>T	c.(109-111)gaC>gaT	p.D37D	MYT1L_ENST00000428368.2_Silent_p.D37D	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	37					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GACCACTGCCGTCACAGCCAG	0.517													A	1982978	G	A	1982978	2	1	364	1	0	0	0	0	0	0	0	1	10183	1136	40	1		1	MYT1L	2	1982978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68906	1982978	241216395	1640	25142											
ADI1	55256	broad.mit.edu	37	chr2	3504690	3504690	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctccttgtccctcacatcGaagtacccactgccatccag	8	10	5	18	1	1	0	1	0	0	0	6	1	5	0	6	0	2	1	6	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3504690G>A	ENST00000382093.5	-	3	3134	c.297C>T	c.(295-297)ttC>ttT	p.F99F	ADI1_ENST00000327435.6_Silent_p.F105F			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	105					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCCTCACATCGAAGTACCCAC	0.537													A	3504690	G	A	3504690	2	1	364	1	0	0	0	0	0	0	0	1	315	1049	37	1		1	ADI1	2	3504690	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1521712	3504690	239694683	1641	25143											
ALLC	55821	broad.mit.edu	37	chr2	3743461	3743461	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcacccaaacaatataatAggtaagatgatattcttgga	16	10	9	6	0	1	2	0	1	1	1	1	3	1	3	1	3	1	2	1	3	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3743461A>G	ENST00000252505.3	+	8	828	c.666A>G	c.(664-666)atA>atG	p.I222M	ALLC_ENST00000471711.1_3'UTR	NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	241							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		ACAATATAATAGGTAAGATGA	0.433										HNSCC(21;0.051)			G	3743461	A	G	3743461	5	3	364	1	0	0	0	0	0	0	1	0	534	434	15	3	692	3	ALLC	2	3743461	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	238771	3743461	239455912	1642	25144											
ALLC	55821	broad.mit.edu	37	chr2	3750056	3750056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacgggggagtgagccGccttcggctccggggcttcc	3	6	16	16	5	0	1	0	1	0	0	3	3	2	2	6	5	1	2	6	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:3750056G>A	ENST00000252505.3	+	12	1241	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H		NM_018436.3	NP_060906.3	Q8N6M5	ALLC_HUMAN	allantoicase	379							allantoicase activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	30	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.088)	all_cancers(51;0.24)		OV - Ovarian serous cystadenocarcinoma(76;0.088)|all cancers(51;0.151)|Epithelial(75;0.206)		GGAGTGAGCCGCCTTCGGCTC	0.592										HNSCC(21;0.051)			A	3750056	G	A	3750056	3	1	364	1	0	0	0	0	1	0	0	0	534	1087	38	1	1121	1	ALLC	2	3750056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6595	3750056	239449317	1643	25145											
RSAD2	91543	broad.mit.edu	37	chr2	7018121	7018121	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaccaaagaggaggaaGaggaccctcctctgcccacc	13	4	11	13	0	1	3	0	1	1	3	2	7	2	6	5	3	1	0	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7018121G>T	ENST00000382040.3	+	1	326	c.190G>T	c.(190-192)Gag>Tag	p.E64*		NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	64					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		AGAGGAGGAAGAGGACCCTCC	0.557													T	7018121	G	T	7018121	4	4	364	1	0	0	0	0	0	1	0	0	13786	943	33	4	192	4	RSAD2	2	7018121	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3268065	7018121	236181252	1644	25146											
RNF144A	9781	broad.mit.edu	37	chr2	7170284	7170284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttctgatacactacgatAagggaccctgccggaacaag	12	8	9	12	2	1	1	0	1	1	0	2	4	2	3	3	2	4	0	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:7170284A>G	ENST00000320892.6	+	8	1127	c.685A>G	c.(685-687)Aag>Gag	p.K229E	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	229						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		ACACTACGATAAGGGACCCTG	0.542													G	7170284	A	G	7170284	3	3	364	1	0	0	0	0	1	0	0	0	13536	363	13	3	707	3	RNF144A	2	7170284	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	152163	7170284	236029089	1645	25147											
KIDINS220	57498	broad.mit.edu	37	chr2	8938388	8938388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatctctcaccattgttgCatttcctttctcaacagccc	8	15	4	14	0	3	0	2	0	2	0	6	1	4	0	3	0	3	2	3	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8938388C>A	ENST00000256707.3	-	10	1124	c.943G>T	c.(943-945)Gca>Tca	p.A315S	KIDINS220_ENST00000427284.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000473731.1_Missense_Mutation_p.A315S|KIDINS220_ENST00000319688.5_Missense_Mutation_p.A316S|KIDINS220_ENST00000418530.1_Missense_Mutation_p.A273S	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	315					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCATTGTTGCATTTCCTTTC	0.328													A	8938388	C	A	8938388	3	1	364	1	0	0	0	0	1	0	0	0	8329	710	25	4	4456	4	KIDINS220	2	8938388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1768104	8938388	234260985	1646	25148											
KIDINS220	57498	broad.mit.edu	37	chr2	8957802	8957802	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtagttcctctacgatgtgCacatgcccttctttcgatgc	7	14	8	12	2	2	0	0	0	2	0	4	2	3	0	2	0	4	3	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8957802C>T	ENST00000256707.3	-	4	433	c.252G>A	c.(250-252)gtG>gtA	p.V84V	KIDINS220_ENST00000427284.1_Silent_p.V84V|KIDINS220_ENST00000473731.1_Silent_p.V84V|KIDINS220_ENST00000319688.5_Silent_p.V84V|KIDINS220_ENST00000418530.1_Silent_p.V42V	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	84					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTACGATGTGCACATGCCCTT	0.333													T	8957802	C	T	8957802	2	4	364	1	0	0	0	0	0	0	0	1	8329	697	25	2		2	KIDINS220	2	8957802	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19414	8957802	234241571	1647	25149											
MBOAT2	129642	broad.mit.edu	37	chr2	8998833	8998833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctttagtgatgaatgtctCgaggctatttcttgattctg	7	18	10	6	1	3	3	0	3	3	0	4	4	3	3	0	1	1	2	0	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:8998833C>T	ENST00000305997.3	-	13	1737	c.1539G>A	c.(1537-1539)tcG>tcA	p.S513S		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	513					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ATGAATGTCTCGAGGCTATTT	0.373													T	8998833	C	T	8998833	2	4	364	1	0	0	0	0	0	0	0	1	9432	871	31	1		1	MBOAT2	2	8998833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41031	8998833	234200540	1648	25150											
ASAP2	8853	broad.mit.edu	37	chr2	9475264	9475264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagaaggcagttgatacagCttcgagatattttgaaatcc	15	11	9	6	1	0	4	0	2	0	2	2	5	1	4	1	1	2	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9475264C>T	ENST00000281419.3	+	9	1145	c.805C>T	c.(805-807)Ctt>Ttt	p.L269F	ASAP2_ENST00000315273.4_Missense_Mutation_p.L269F	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	269					regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GTTGATACAGCTTCGAGATAT	0.403													T	9475264	C	T	9475264	3	4	364	1	0	0	0	0	1	0	0	0	1016	797	28	2	839	2	ASAP2	2	9475264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	476431	9475264	233724109	1649	25151											
ASAP2	8853	broad.mit.edu	37	chr2	9496443	9496443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcagaggatgacgggCaatgacgtctgctgtgactg	10	8	16	7	2	1	4	0	3	1	1	1	6	1	5	0	2	2	3	0	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9496443C>T	ENST00000281419.3	+	14	1636	c.1296C>T	c.(1294-1296)ggC>ggT	p.G432G	ASAP2_ENST00000315273.4_Silent_p.G432G	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	432	Arf-GAP.				regulation of ARF GTPase activity	Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|protein binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						GGATGACGGGCAATGACGTCT	0.502													T	9496443	C	T	9496443	2	4	364	1	0	0	0	0	0	0	0	1	1016	697	25	2		2	ASAP2	2	9496443	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21179	9496443	233702930	1650	25152											
ITGB1BP1	9270	broad.mit.edu	37	chr2	9558819	9558819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtcgttttttgcccttgCgaaacatttttcaccaccat	7	17	6	11	2	1	0	1	0	0	0	2	1	1	0	3	0	3	1	3	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9558819C>T	ENST00000360635.3	-	3	904	c.8G>A	c.(7-9)cGc>cAc	p.R3H	ITGB1BP1_ENST00000456913.2_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000490426.1_Intron|ITGB1BP1_ENST00000488451.1_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000355346.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000238091.4_Missense_Mutation_p.R3H|ITGB1BP1_ENST00000359712.3_Missense_Mutation_p.R3H			O14713	ITBP1_HUMAN	integrin beta 1 binding protein 1	3					cell migration|cell-matrix adhesion|intracellular protein kinase cascade	cytosol|lamellipodium|membrane|ruffle	protein binding			kidney(2)|large_intestine(2)|lung(2)|prostate(2)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.23)		TTTGCCCTTGCGAAACATTTT	0.373													T	9558819	C	T	9558819	3	4	364	1	0	0	0	0	1	0	0	0	7949	768	27	1	618	1	ITGB1BP1	2	9558819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62376	9558819	233640554	1651	25153											
CPSF3	51692	broad.mit.edu	37	chr2	9571002	9571002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctttctgattatgtcAaagttaggtaaattacttta	11	18	7	5	0	3	1	1	1	2	0	3	1	3	1	0	2	1	3	0	2	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9571002A>G	ENST00000460593.1	+	4	1361	c.223A>G	c.(223-225)Aaa>Gaa	p.K75E	CPSF3_ENST00000238112.3_Missense_Mutation_p.K112E			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	112					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TGATTATGTCAAAGTTAGGTA	0.348													G	9571002	A	G	9571002	3	3	364	1	0	0	0	0	1	0	0	0	3857	131	5	3	348	3	CPSF3	2	9571002	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12183	9571002	233628371	1652	25154											
YWHAQ	10971	broad.mit.edu	37	chr2	9770415	9770415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaccctccaggcggacCtgcggcccccgaccacgttc	7	5	11	18	4	0	2	0	1	0	1	2	4	1	3	6	3	1	1	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:9770415C>A	ENST00000381844.4	-	1	330	c.167G>T	c.(166-168)aGg>aTg	p.R56M	YWHAQ_ENST00000238081.3_Missense_Mutation_p.R56M			P27348	1433T_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, theta polypeptide	56		Interaction with phosphoserine on interacting protein.			negative regulation of transcription, DNA-dependent	centrosome|nucleus	protein N-terminus binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	6	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.241)		CCAGGCGGACCTGCGGCCCCC	0.612													A	9770415	C	A	9770415	3	1	364	1	0	0	0	0	1	0	0	0	17607	681	24	4	590	4	YWHAQ	2	9770415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199413	9770415	233428958	1653	25155											
TAF1B	9014	broad.mit.edu	37	chr2	10045094	10045094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactgctatcttcatcccaAcatactgtgtatgaaatact	13	13	5	10	0	2	2	1	1	1	1	3	2	3	2	1	0	4	2	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10045094A>G	ENST00000263663.5	+	9	1102	c.914A>G	c.(913-915)aAc>aGc	p.N305S	TAF1B_ENST00000396242.3_Missense_Mutation_p.N50S	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	305					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CTTCATCCCAACATACTGTGT	0.383													G	10045094	A	G	10045094	3	3	364	1	0	0	0	0	1	0	0	0	15617	43	2	3	948	3	TAF1B	2	10045094	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	274679	10045094	233154279	1654	25156											
HPCAL1	3241	broad.mit.edu	37	chr2	10566879	10566879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttggaagaattcatcagaGgtgccaagagcgacccctcc	11	7	10	13	1	2	3	2	0	0	3	3	5	3	4	5	2	2	0	5	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10566879G>T	ENST00000381765.3	+	6	1040	c.514G>T	c.(514-516)Ggt>Tgt	p.G172C	HPCAL1_ENST00000307845.3_Missense_Mutation_p.G172C	NM_134421.2	NP_602293.1	P37235	HPCL1_HUMAN	hippocalcin-like 1	172	EF-hand 4.						calcium ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.214)		ATTCATCAGAGGTGCCAAGAG	0.572													T	10566879	G	T	10566879	3	4	364	1	0	0	0	0	1	0	0	0	7385	1000	35	4	524	4	HPCAL1	2	10566879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	521785	10566879	232632494	1655	25157											
ODC1	4953	broad.mit.edu	37	chr2	10580867	10580867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatctacacattaatactagCcgaagcacaggctgctctgt	12	11	7	11	1	2	0	0	0	2	0	2	1	2	0	1	1	5	3	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10580867C>T	ENST00000234111.4	-	12	1879	c.1369G>A	c.(1369-1371)Gct>Act	p.A457T	ODC1_ENST00000405333.1_Missense_Mutation_p.A457T	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	457					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	TTAATACTAGCCGAAGCACAG	0.493													T	10580867	C	T	10580867	3	4	364	1	0	0	0	0	1	0	0	0	10901	739	26	2	20	2	ODC1	2	10580867	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13988	10580867	232618506	1656	25158											
ODC1	4953	broad.mit.edu	37	chr2	10582301	10582301	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgattacgccggtgatCtaagagagtgaaacagaaaa	15	8	13	5	2	1	5	0	3	1	2	1	6	1	5	1	2	2	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10582301C>A	ENST00000234111.4	-	9	1261		c.e9-1		ODC1_ENST00000405333.1_Splice_Site	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	CGCCGGTGATCTAAGAGAGTG	0.473													A	10582301	C	A	10582301	5	1	364	1	0	0	0	0	0	0	1	0	10901	927	32	4	651	4	ODC1	2	10582301	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1434	10582301	232617072	1657	25159											
NOL10	79954	broad.mit.edu	37	chr2	10712240	10712240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgtcttgacttcaggtgtCcggccgaacgacggagtctt	6	12	13	10	4	3	1	1	1	2	0	4	4	4	2	2	3	1	0	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:10712240C>A	ENST00000345985.3	-	20	1984	c.1874G>T	c.(1873-1875)gGa>gTa	p.G625V	NOL10_ENST00000538384.1_Missense_Mutation_p.G649V|NOL10_ENST00000381685.5_Missense_Mutation_p.G675V|NOL10_ENST00000542668.1_Missense_Mutation_p.G625V	NM_001261394.1	NP_001248323.1	Q9BSC4	NOL10_HUMAN	nucleolar protein 10	675						nucleolus						Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.172)|OV - Ovarian serous cystadenocarcinoma(76;0.207)		CTTCAGGTGTCCGGCCGAACG	0.473													A	10712240	C	A	10712240	3	1	364	1	0	0	0	0	1	0	0	0	10596	855	30	4	46	4	NOL10	2	10712240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129939	10712240	232487133	1658	25160											
KCNF1	3754	broad.mit.edu	37	chr2	11053082	11053082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcctggagaagcccgagtCgtcgtgcccggcgcgggtgg	4	7	18	12	6	0	1	0	0	0	1	3	3	1	1	3	4	2	1	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053082C>T	ENST00000295082.1	+	1	1020	c.530C>T	c.(529-531)tCg>tTg	p.S177L		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	177						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		AAGCCCGAGTCGTCGTGCCCG	0.687													T	11053082	C	T	11053082	3	4	364	1	0	0	0	0	1	0	0	0	8084	893	31	1	532	1	KCNF1	2	11053082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340842	11053082	232146291	1659	25161											
KCNF1	3754	broad.mit.edu	37	chr2	11053347	11053347	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgctggccatcctcccCttctacgtgagcctcacgct	5	10	9	17	3	2	1	1	1	1	0	4	2	4	1	5	1	3	2	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053347C>A	ENST00000295082.1	+	1	1285	c.795C>A	c.(793-795)ccC>ccA	p.P265P		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCATCCTCCCCTTCTACGTGA	0.627													A	11053347	C	A	11053347	2	1	364	1	0	0	0	0	0	0	0	1	8084	668	24	4		4	KCNF1	2	11053347	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265	11053347	232146026	1660	25162											
KCNF1	3754	broad.mit.edu	37	chr2	11053694	11053694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacatctaccccaagaccaCgctgggcaagctcaacgcgg	11	4	10	16	4	2	1	1	0	1	1	2	2	2	1	3	2	3	3	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11053694C>T	ENST00000295082.1	+	1	1632	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_002236.4	NP_002227.2	Q9H3M0	KCNF1_HUMAN	potassium voltage-gated channel, subfamily F, member 1	381						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(2)|skin(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.128)		CCCAAGACCACGCTGGGCAAG	0.572													T	11053694	C	T	11053694	3	4	364	1	0	0	0	0	1	0	0	0	8084	536	19	1	1144	1	KCNF1	2	11053694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	347	11053694	232145679	1661	25163											
ROCK2	9475	broad.mit.edu	37	chr2	11348503	11348503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatagagaacatcttttCtcagcttctagcaataggtt	12	15	6	8	0	4	1	1	0	4	1	5	2	4	1	0	1	3	3	0	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11348503C>A	ENST00000315872.6	-	19	2722	c.2274G>T	c.(2272-2274)gaG>gaT	p.E758D	ROCK2_ENST00000401753.1_Missense_Mutation_p.E515D	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	758	Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		AACATCTTTTCTCAGCTTCTA	0.343													A	11348503	C	A	11348503	3	1	364	1	0	0	0	0	1	0	0	0	13609	912	32	4	1952	4	ROCK2	2	11348503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294809	11348503	231850870	1662	25164											
ROCK2	9475	broad.mit.edu	37	chr2	11361333	11361333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccacatacaaattttctCtatagtaggtaaatccgatg	16	12	5	8	1	1	0	0	0	1	0	3	1	2	0	2	1	2	2	2	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11361333C>A	ENST00000315872.6	-	9	1698	c.1250G>T	c.(1249-1251)aGa>aTa	p.R417I	ROCK2_ENST00000401753.1_Missense_Mutation_p.R174I	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	417	AGC-kinase C-terminal.|Interaction with NPM1.|Interaction with PPP1R12A.				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		CAAATTTTCTCTATAGTAGGT	0.308													A	11361333	C	A	11361333	3	1	364	1	0	0	0	0	1	0	0	0	13609	913	32	4	3016	4	ROCK2	2	11361333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12830	11361333	231838040	1663	25165											
GREB1	9687	broad.mit.edu	37	chr2	11716623	11716623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccgtaatgcacaagggaCtctaaccaaaggacctttaa	14	8	9	10	1	1	0	0	0	1	0	2	2	2	2	3	3	2	2	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11716623C>A	ENST00000381486.2	+	5	899	c.599C>A	c.(598-600)aCt>aAt	p.T200N	GREB1_ENST00000381483.2_Missense_Mutation_p.T200N|GREB1_ENST00000234142.5_Missense_Mutation_p.T200N|GREB1_ENST00000263834.5_Missense_Mutation_p.T200N|GREB1_ENST00000389825.3_Missense_Mutation_p.T90N	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	200						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GCACAAGGGACTCTAACCAAA	0.498													A	11716623	C	A	11716623	3	1	364	1	0	0	0	0	1	0	0	0	6815	565	20	4	613	4	GREB1	2	11716623	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	355290	11716623	231482750	1664	25166											
GREB1	9687	broad.mit.edu	37	chr2	11735422	11735422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagagccttctcactcctgCggagtaccagaaggaagtca	11	7	11	12	2	2	2	2	0	1	2	4	5	3	4	3	2	3	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11735422C>T	ENST00000381486.2	+	12	2042	c.1742C>T	c.(1741-1743)gCg>gTg	p.A581V	GREB1_ENST00000234142.5_Missense_Mutation_p.A581V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	581						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCACTCCTGCGGAGTACCAG	0.522													T	11735422	C	T	11735422	3	4	364	1	0	0	0	0	1	0	0	0	6815	768	27	1	1892	1	GREB1	2	11735422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18799	11735422	231463951	1665	25167											
GREB1	9687	broad.mit.edu	37	chr2	11750821	11750821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccttgcaggttccccCgcctgcacagcgcggtgatc	4	10	12	15	3	0	1	0	1	0	0	3	1	2	1	4	2	3	4	4	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:11750821C>T	ENST00000381486.2	+	18	2974	c.2674C>T	c.(2674-2676)Cgc>Tgc	p.R892C	GREB1_ENST00000234142.5_Missense_Mutation_p.R892C	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	892						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAGGTTCCCCCGCCTGCACAG	0.627													T	11750821	C	T	11750821	3	4	364	1	0	0	0	0	1	0	0	0	6815	652	23	1	2848	1	GREB1	2	11750821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15399	11750821	231448552	1666	25168											
NBAS	51594	broad.mit.edu	37	chr2	15359051	15359051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatcagcacagaaaggcCgcagccactccagcaggtcc	11	4	10	16	2	2	1	2	0	0	1	4	1	4	1	4	2	3	3	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15359051C>T	ENST00000281513.5	-	48	6303	c.6278G>A	c.(6277-6279)cGg>cAg	p.R2093Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R1973Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	2093										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						ACAGAAAGGCCGCAGCCACTC	0.557													T	15359051	C	T	15359051	3	4	364	1	0	0	0	0	1	0	0	0	10262	652	23	1	857	1	NBAS	2	15359051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3608230	15359051	227840322	1667	25169											
NBAS	51594	broad.mit.edu	37	chr2	15378705	15378705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtaactttagaatccttagCttcttgagcttcgtcttctg	7	17	8	9	1	3	2	0	1	3	1	5	2	4	2	1	1	3	3	1	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15378705C>T	ENST00000281513.5	-	45	5855	c.5830G>A	c.(5830-5832)Gct>Act	p.A1944T	NBAS_ENST00000441750.1_Missense_Mutation_p.A1824T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1944								p.A1944T(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GAATCCTTAGCTTCTTGAGCT	0.413													T	15378705	C	T	15378705	3	4	364	1	0	0	0	0	1	0	0	0	10262	797	28	2	1317	2	NBAS	2	15378705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19654	15378705	227820668	1668	25170											
NBAS	51594	broad.mit.edu	37	chr2	15607493	15607493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagtaggttaataacttcCgtctacaacggcaaagttcc	13	11	7	10	2	1	0	0	0	1	0	3	0	3	0	2	2	3	4	2	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:15607493C>T	ENST00000281513.5	-	19	2082	c.2057G>A	c.(2056-2058)cGg>cAg	p.R686Q	NBAS_ENST00000441750.1_Missense_Mutation_p.R686Q	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	686										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						TAATAACTTCCGTCTACAACG	0.318													T	15607493	C	T	15607493	3	4	364	1	0	0	0	0	1	0	0	0	10262	652	23	1	5194	1	NBAS	2	15607493	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228788	15607493	227591880	1669	25171											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698269	17698269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacagtcgttattaaagCtgtctgactacctaatattt	13	14	5	9	1	1	1	0	1	1	0	2	1	1	1	2	0	3	2	2	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17698269C>T	ENST00000399080.2	-	1	1437	c.1414G>A	c.(1414-1416)Gct>Act	p.A472T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	472										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTTATTAAAGCTGTCTGACTA	0.348													T	17698269	C	T	17698269	3	4	364	1	0	0	0	0	1	0	0	0	13075	797	28	2	2077	2	RAD51AP2	2	17698269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2090776	17698269	225501104	1670	25172											
SMC6	79677	broad.mit.edu	37	chr2	17888593	17888593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcagtaaaagcttctctAcaatttttgggtggcttttg	9	16	9	7	0	2	0	1	0	1	0	3	0	2	0	0	2	3	4	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17888593A>G	ENST00000448223.2	-	18	2168	c.1899T>C	c.(1897-1899)tgT>tgC	p.C633C	SMC6_ENST00000351948.4_Silent_p.C633C|SMC6_ENST00000381272.4_Silent_p.C659C|SMC6_ENST00000402989.1_Silent_p.C633C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	633	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AAGCTTCTCTACAATTTTTGG	0.343													G	17888593	A	G	17888593	2	3	364	1	0	0	0	0	0	0	0	1	14881	389	14	3		3	SMC6	2	17888593	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	190324	17888593	225310780	1671	25173											
SMC6	79677	broad.mit.edu	37	chr2	17889964	17889964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggctatttgccacaaccGcattatctatttctaaagct	11	15	5	10	1	2	0	0	0	2	0	2	0	2	0	2	1	3	3	2	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17889964G>A	ENST00000448223.2	-	17	2056	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SMC6_ENST00000351948.4_Missense_Mutation_p.A596V|SMC6_ENST00000381272.4_Missense_Mutation_p.A622V|SMC6_ENST00000402989.1_Missense_Mutation_p.A596V	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	596	Flexible hinge.				DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGCCACAACCGCATTATCTAT	0.358													A	17889964	G	A	17889964	3	1	364	1	0	0	0	0	1	0	0	0	14881	1087	38	1	1536	1	SMC6	2	17889964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1371	17889964	225309409	1672	25174											
SMC6	79677	broad.mit.edu	37	chr2	17902486	17902486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagcaatactttgaaaacGttcctctttctctacacact	12	13	3	13	1	2	1	0	1	2	0	4	1	3	1	2	0	4	2	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17902486G>A	ENST00000448223.2	-	10	1038	c.769C>T	c.(769-771)Cgt>Tgt	p.R257C	SMC6_ENST00000351948.4_Missense_Mutation_p.R257C|SMC6_ENST00000381272.4_Missense_Mutation_p.R283C|SMC6_ENST00000402989.1_Missense_Mutation_p.R257C	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	257					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CTTTGAAAACGTTCCTCTTTC	0.333													A	17902486	G	A	17902486	3	1	364	1	0	0	0	0	1	0	0	0	14881	1145	40	1	2582	1	SMC6	2	17902486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12522	17902486	225296887	1673	25175											
GEN1	348654	broad.mit.edu	37	chr2	17946245	17946245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtgtgcttatctcaatGctggtggtcatgtcgatggc	6	14	12	9	1	2	0	2	0	1	0	4	1	2	0	1	3	2	2	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946245G>A	ENST00000381254.2	+	4	644	c.430G>A	c.(430-432)Gct>Act	p.A144T	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.A144T	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	144	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TTATCTCAATGCTGGTGGTCA	0.473								Homologous recombination					A	17946245	G	A	17946245	3	1	364	1	0	0	0	0	1	0	0	0	6391	1319	46	2	440	2	GEN1	2	17946245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43759	17946245	225253128	1674	25176											
GEN1	348654	broad.mit.edu	37	chr2	17946267	17946267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtcatgtcgatggctGcctcaccaatgatggagata	9	11	13	8	1	2	2	2	1	0	1	3	4	2	2	2	4	1	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:17946267G>A	ENST00000381254.2	+	4	666	c.452G>A	c.(451-453)tGc>tAc	p.C151Y	SMC6_ENST00000402989.1_Intron|GEN1_ENST00000317402.7_Missense_Mutation_p.C151Y	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	151	I-domain.				DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GTCGATGGCTGCCTCACCAAT	0.458								Homologous recombination					A	17946267	G	A	17946267	3	1	364	1	0	0	0	0	1	0	0	0	6391	1319	46	2	462	2	GEN1	2	17946267	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	17946267	225253106	1675	25177											
KCNS3	3790	broad.mit.edu	37	chr2	18112667	18112667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggaggaaaaccacgagaAggactgggaccagaaaagcc	18	1	13	9	1	0	2	0	0	0	2	0	7	0	6	3	4	2	0	3	4	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18112667A>G	ENST00000403915.1	+	3	843	c.392A>G	c.(391-393)aAg>aGg	p.K131R	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.K131R	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	131					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACCACGAGAAGGACTGGGAC	0.493													G	18112667	A	G	18112667	3	3	364	1	0	0	0	0	1	0	0	0	8148	72	3	3	394	3	KCNS3	2	18112667	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	166400	18112667	225086706	1676	25178											
KCNS3	3790	broad.mit.edu	37	chr2	18113005	18113005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgtccggctggctgccGctccttgtcaaaagaaattc	7	11	10	13	3	1	1	1	0	0	1	4	1	3	1	4	2	2	3	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18113005G>A	ENST00000403915.1	+	3	1181	c.730G>A	c.(730-732)Gct>Act	p.A244T	KCNS3_ENST00000465292.1_Intron|KCNS3_ENST00000304101.4_Missense_Mutation_p.A244T	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	244					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCTGGCTGCCGCTCCTTGTCA	0.522													A	18113005	G	A	18113005	3	1	364	1	0	0	0	0	1	0	0	0	8148	1087	38	1	732	1	KCNS3	2	18113005	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	338	18113005	225086368	1677	25179											
NT5C1B	93034	broad.mit.edu	37	chr2	18745165	18745165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaagatgtggggccggAtcttcaccaagatgggactt	12	8	13	8	1	2	3	1	0	1	3	2	5	2	5	2	4	0	0	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18745165A>G	ENST00000304081.4	-	9	1650	c.1550T>C	c.(1549-1551)aTc>aCc	p.I517T	NT5C1B_ENST00000359846.2_Missense_Mutation_p.I577T|NT5C1B_ENST00000600945.1_Missense_Mutation_p.I577T|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.I577T	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				GTGGGGCCGGATCTTCACCAA	0.502													G	18745165	A	G	18745165	3	3	364	1	0	0	0	0	1	0	0	0	10762	333	12	3	106	3	NT5C1B	2	18745165	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	632160	18745165	224454208	1678	25180											
NT5C1B	93034	broad.mit.edu	37	chr2	18764135	18764135	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtatttattttacttaccGtagtgattgacgctgtttat	8	20	8	5	2	0	2	0	2	0	0	0	2	0	2	1	1	2	4	1	1	6	10	rs148193506	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18764135G>A	ENST00000304081.4	-	6	1120	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	NT5C1B_ENST00000359846.2_Splice_Site_p.Y400Y|NT5C1B_ENST00000600945.1_Splice_Site_p.Y400Y|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.Y400Y	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TTTACTTACCGTAGTGATTGA	0.408													A	18764135	G	A	18764135	5	1	364	1	0	0	0	0	0	0	1	0	10762	1159	40	1	648	1	NT5C1B	2	18764135	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18970	18764135	224435238	1679	25181											
NT5C1B	93034	broad.mit.edu	37	chr2	18766032	18766032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttcccgcacgatgccttgGgcccaggcctccggattctc	5	10	10	16	3	1	0	0	0	1	0	4	2	3	1	5	3	1	1	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:18766032G>T	ENST00000304081.4	-	4	571	c.471C>A	c.(469-471)gcC>gcA	p.A157A	NT5C1B_ENST00000359846.2_Silent_p.A217A|NT5C1B_ENST00000600945.1_Silent_p.A217A|NT5C1B-RDH14_ENST00000532967.1_Silent_p.A217A	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				CGATGCCTTGGGCCCAGGCCT	0.692													T	18766032	G	T	18766032	2	4	364	1	0	0	0	0	0	0	0	1	10762	1219	43	4		4	NT5C1B	2	18766032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1897	18766032	224433341	1680	25182											
OSR1	130497	broad.mit.edu	37	chr2	19553015	19553015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggttgtaggacttggtGaagtggcggccacagaactt	10	10	15	6	1	0	2	0	1	0	1	0	3	0	3	1	5	1	3	1	5	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:19553015G>T	ENST00000536433.1	-	1	3662	c.552C>A	c.(550-552)ttC>ttA	p.F184L	OSR1_ENST00000272223.2_Missense_Mutation_p.F184L			Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	184					chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|heart development|mesangial cell development|mesonephric duct morphogenesis|metanephric cap mesenchymal cell proliferation involved in metanephros development|metanephric glomerulus vasculature development|metanephric interstitial cell development|metanephric mesenchymal cell differentiation|metanephric nephron tubule development|metanephric smooth muscle tissue development|middle ear morphogenesis|negative regulation of apoptosis|negative regulation of nephron tubule epithelial cell differentiation|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|pattern specification involved in metanephros development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of gastrulation|positive regulation of transcription from RNA polymerase II promoter|pronephros development|renal vesicle progenitor cell differentiation|specification of anterior mesonephric tubule identity|specification of posterior mesonephric tubule identity|stem cell differentiation|transcription, DNA-dependent|ureter urothelium development|ureteric bud development	nucleolus	nucleic acid binding|zinc ion binding			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AGGACTTGGTGAAGTGGCGGC	0.562													T	19553015	G	T	19553015	3	4	364	1	0	0	0	0	1	0	0	0	11369	1281	45	4	256	4	OSR1	2	19553015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	786983	19553015	223646358	1681	25183											
WDR35	57539	broad.mit.edu	37	chr2	20130200	20130200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccctcatagagctgcctCtgtgcaagtataaagaagtg	12	10	9	10	0	2	2	1	0	1	2	3	2	3	2	2	0	3	3	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20130200C>T	ENST00000345530.3	-	26	3226	c.3111G>A	c.(3109-3111)caG>caA	p.Q1037Q	WDR35_ENST00000281405.4_Silent_p.Q1026Q|WDR35_ENST00000416055.2_Silent_p.Q510Q	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	1037										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGCTGCCTCTGTGCAAGTA	0.438													T	20130200	C	T	20130200	2	4	364	1	0	0	0	0	0	0	0	1	17391	912	32	2		2	WDR35	2	20130200	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577185	20130200	223069173	1682	25184											
WDR35	57539	broad.mit.edu	37	chr2	20137546	20137546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcagcctcttcaaacCtgccgaagtagccaacaact	11	11	5	14	1	4	0	2	0	2	0	4	1	4	0	4	0	6	1	4	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20137546C>A	ENST00000345530.3	-	20	2373	c.2258G>T	c.(2257-2259)aGg>aTg	p.R753M	WDR35_ENST00000281405.4_Missense_Mutation_p.R742M|WDR35_ENST00000416055.2_Missense_Mutation_p.R318M	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35	753										breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTTCAAACCTGCCGAAGTA	0.448													A	20137546	C	A	20137546	3	1	364	1	0	0	0	0	1	0	0	0	17391	681	24	4	1323	4	WDR35	2	20137546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7346	20137546	223061827	1683	25185											
WDR35	57539	broad.mit.edu	37	chr2	20160376	20160376	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacaaagaactagtacaaaCtgtgaacaaataaaacaaaa	24	7	4	6	0	0	2	0	1	0	1	0	2	0	2	0	0	6	1	0	0	12	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:20160376C>A	ENST00000345530.3	-	12	1343		c.e12-1		WDR35_ENST00000281405.4_Splice_Site|WDR35_ENST00000416055.2_Intron	NM_001006657.1	NP_001006658.1	Q9P2L0	WDR35_HUMAN	WD repeat domain 35											breast(1)|endometrium(5)|kidney(8)|large_intestine(8)|lung(16)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTAGTACAAACTGTGAACAAA	0.289													A	20160376	C	A	20160376	5	1	364	1	0	0	0	0	0	0	1	0	17391	579	20	4	2386	4	WDR35	2	20160376	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22830	20160376	223038997	1684	25186											
APOB	338	broad.mit.edu	37	chr2	21231046	21231046	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctgactagagaagtcCagtttggggatgttcaattt	10	13	11	7	0	2	2	2	1	0	1	3	4	3	3	2	2	1	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21231046C>T	ENST00000233242.1	-	26	8821	c.8694G>A	c.(8692-8694)ctG>ctA	p.L2898L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2898					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAGAGAAGTCCAGTTTGGGGA	0.443													T	21231046	C	T	21231046	2	4	364	1	0	0	0	0	0	0	0	1	788	581	21	2		2	APOB	2	21231046	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1070670	21231046	221968327	1685	25187											
APOB	338	broad.mit.edu	37	chr2	21236129	21236129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtgttgccaccactGtaggaggcggaccagttgta	7	10	15	9	1	0	0	0	0	0	0	0	2	0	2	3	4	2	5	3	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21236129G>A	ENST00000233242.1	-	25	4246	c.4119C>T	c.(4117-4119)taC>taT	p.Y1373Y		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1373					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCCACCACTGTAGGAGGCGG	0.512													A	21236129	G	A	21236129	2	1	364	1	0	0	0	0	0	0	0	1	788	1372	48	2		2	APOB	2	21236129	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5083	21236129	221963244	1686	25188											
APOB	338	broad.mit.edu	37	chr2	21238060	21238060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataatcggagagatccacaGggaaattggaagtcattttt	14	11	11	5	1	1	1	1	0	0	1	3	6	2	4	1	3	0	0	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21238060G>T	ENST00000233242.1	-	23	3708	c.3581C>A	c.(3580-3582)cCt>cAt	p.P1194H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1194					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAGATCCACAGGGAAATTGGA	0.408													T	21238060	G	T	21238060	3	4	364	1	0	0	0	0	1	0	0	0	788	1000	35	4	10138	4	APOB	2	21238060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1931	21238060	221961313	1687	25189											
APOB	338	broad.mit.edu	37	chr2	21255269	21255269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacaaggtggctcggctgcGctgatccctcgccatgttga	7	10	12	12	3	0	2	0	2	0	0	3	2	1	2	2	3	2	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:21255269G>A	ENST00000233242.1	-	10	1436	c.1309C>T	c.(1309-1311)Cgc>Tgc	p.R437C	APOB_ENST00000399256.4_Missense_Mutation_p.R437C	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	437	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTCGGCTGCGCTGATCCCTC	0.572													A	21255269	G	A	21255269	3	1	364	1	0	0	0	0	1	0	0	0	788	1087	38	1	12462	1	APOB	2	21255269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17209	21255269	221944104	1688	25190											
MFSD2B	388931	broad.mit.edu	37	chr2	24239760	24239760	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggcctacttcttcctGtggttcctgccccccttcac	2	13	7	19	0	2	0	1	0	1	0	4	0	4	0	7	2	2	1	7	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24239760G>A	ENST00000338315.4	+	4	393	c.393G>A	c.(391-393)ctG>ctA	p.L131L	MFSD2B_ENST00000406420.3_Silent_p.L131L			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	131					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						ACTTCTTCCTGTGGTTCCTGC	0.662													A	24239760	G	A	24239760	2	1	364	1	0	0	0	0	0	0	0	1	9606	1364	48	2		2	MFSD2B	2	24239760	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2984491	24239760	218959613	1689	25191											
MFSD2B	388931	broad.mit.edu	37	chr2	24247137	24247137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccagccggctgagccttCggaggtaagccccgcacgcc	6	5	12	18	4	0	1	0	1	0	0	2	2	1	2	7	3	3	3	7	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24247137C>T	ENST00000338315.4	+	13	1486	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	MFSD2B_ENST00000406420.3_Missense_Mutation_p.R496W			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	496					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						GCTGAGCCTTCGGAGGTAAGC	0.652													T	24247137	C	T	24247137	3	4	364	1	0	0	0	0	1	0	0	0	9606	875	31	1	1536	1	MFSD2B	2	24247137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7377	24247137	218952236	1690	25192											
C2orf44	80304	broad.mit.edu	37	chr2	24262192	24262192	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaacccacagacacatTcaaactgtccaatgactttg	15	8	6	12	0	1	2	1	1	0	1	2	3	2	3	2	1	2	0	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24262192T>A	ENST00000295148.4	-	2	230	c.173A>T	c.(172-174)gAa>gTa	p.E58V	C2orf44_ENST00000406895.3_Missense_Mutation_p.E58V	NM_025203.2	NP_079479.1	Q9H6R7	CB044_HUMAN	chromosome 2 open reading frame 44	58							protein binding		C2orf44/ALK(2)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACAGACACATTCAAACTGTCC	0.522			T	ALK	NSCLC								A	24262192	T	A	24262192	3	1	364	1	0	0	0	0	1	0	0	0	2189	1783	62	5	2004	5	C2orf44	2	24262192	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15055	24262192	218937181	1691	25193											
ITSN2	50618	broad.mit.edu	37	chr2	24494740	24494740	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttttcttcctggagtcGcttttgtttttcttcttcct	1	25	6	9	1	3	0	0	0	3	0	6	1	5	1	2	1	0	3	2	1	0	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:24494740G>A	ENST00000355123.4	-	19	2595	c.2152C>T	c.(2152-2154)Cga>Tga	p.R718*	ITSN2_ENST00000361999.3_Nonsense_Mutation_p.R691*|ITSN2_ENST00000406921.3_Nonsense_Mutation_p.R718*	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	718					endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					tcctggagtcgcttttgtttt	0.338													A	24494740	G	A	24494740	4	1	364	1	0	0	0	0	0	1	0	0	7985	1095	38	1	3080	1	ITSN2	2	24494740	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232548	24494740	218704633	1692	25194											
CENPO	79172	broad.mit.edu	37	chr2	25038367	25038367	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttcttgtttgcctcaggCctcagtggtaaactgaccag	7	13	10	11	0	4	1	2	1	2	0	4	1	4	1	3	2	2	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25038367C>A	ENST00000380834.2	+	5	761	c.336C>A	c.(334-336)ggC>ggA	p.G112G	CENPO_ENST00000473706.1_Splice_Site_p.G106G|CENPO_ENST00000260662.1_Splice_Site_p.G112G			Q9BU64	CENPO_HUMAN	centromere protein O	112					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			breast(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					TTGCCTCAGGCCTCAGTGGTA	0.473													A	25038367	C	A	25038367	5	1	364	1	0	0	0	0	0	0	1	0	3269	753	26	4	350	4	CENPO	2	25038367	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	543627	25038367	218161006	1693	25195											
ADCY3	109	broad.mit.edu	37	chr2	25050827	25050827	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacgggacgccaggcataGaggttgatggtggccacggc	10	5	17	9	3	0	3	0	1	0	2	0	4	0	4	2	6	0	2	2	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25050827G>T	ENST00000260600.5	-	13	3227	c.2376C>A	c.(2374-2376)ctC>ctA	p.L792L	ADCY3_ENST00000405392.1_Silent_p.L379L|ADCY3_ENST00000450524.1_5'UTR	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	792					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GCCAGGCATAGAGGTTGATGG	0.572											OREG0014498	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	25050827	G	T	25050827	2	4	364	1	0	0	0	0	0	0	0	1	295	929	33	4		4	ADCY3	2	25050827	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12460	25050827	218148546	1694	25196											
ADCY3	109	broad.mit.edu	37	chr2	25057802	25057802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggggaatgaggggttgtCggcctgtgagccagggaggc	6	8	21	6	1	0	2	0	2	0	0	1	4	0	4	2	7	1	2	2	7	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25057802C>T	ENST00000260600.5	-	9	2517	c.1666G>A	c.(1666-1668)Gac>Aac	p.D556N	ADCY3_ENST00000405392.1_Missense_Mutation_p.D189N	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	556					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					GAGGGGTTGTCGGCCTGTGAG	0.617													T	25057802	C	T	25057802	3	4	364	1	0	0	0	0	1	0	0	0	295	884	31	1	1820	1	ADCY3	2	25057802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6975	25057802	218141571	1695	25197											
DNMT3A	1788	broad.mit.edu	37	chr2	25467441	25467441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttccgcacatgagcacCtcacggcccccacagcagat	9	8	8	16	2	1	2	1	1	0	1	2	2	2	2	4	1	2	4	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25467441C>A	ENST00000264709.3	-	14	1972	c.1635G>T	c.(1633-1635)gaG>gaT	p.E545D	DNMT3A_ENST00000321117.5_Missense_Mutation_p.E545D|DNMT3A_ENST00000380746.4_Missense_Mutation_p.E356D|DNMT3A_ENST00000402667.1_Missense_Mutation_p.E322D	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	545	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACATGAGCACCTCACGGCCCC	0.632			"Mis, F, N, S"		AML								A	25467441	C	A	25467441	3	1	364	1	0	0	0	0	1	0	0	0	4715	680	24	4	1143	4	DNMT3A	2	25467441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	409639	25467441	217731932	1696	25198											
DNMT3A	1788	broad.mit.edu	37	chr2	25497902	25497902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagcctcggcatgggccGctgacggaggctggactccc	5	6	17	13	3	0	2	0	2	0	0	2	4	1	4	3	6	1	3	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25497902G>A	ENST00000264709.3	-	6	884	c.547C>T	c.(547-549)Cgg>Tgg	p.R183W	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R183W	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	183					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCATGGGCCGCTGACGGAGG	0.672			"Mis, F, N, S"		AML								A	25497902	G	A	25497902	3	1	364	1	0	0	0	0	1	0	0	0	4715	1086	38	1	2343	1	DNMT3A	2	25497902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30461	25497902	217701471	1697	25199											
ASXL2	55252	broad.mit.edu	37	chr2	25967097	25967097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtctgcccttcaccaccCtctcctggaccttgtccacc	5	10	6	20	0	3	0	1	0	2	0	5	1	4	1	7	1	1	1	7	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:25967097C>A	ENST00000435504.4	-	13	2402	c.2109G>T	c.(2107-2109)gaG>gaT	p.E703D	ASXL2_ENST00000272341.4_Missense_Mutation_p.E443D|ASXL2_ENST00000336112.4_Missense_Mutation_p.E675D|ASXL2_ENST00000404843.1_Missense_Mutation_p.E443D			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	703	Gly-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTTCACCACCCTCTCCTGGAC	0.637													A	25967097	C	A	25967097	3	1	364	1	0	0	0	0	1	0	0	0	1072	680	24	4	2202	4	ASXL2	2	25967097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	469195	25967097	217232276	1698	25200											
HADHA	3030	broad.mit.edu	37	chr2	26424180	26424180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctttcttcttcactttGtcattcaatctagaaaaaac	13	15	4	9	0	6	2	3	0	3	2	6	2	6	2	0	0	2	1	0	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26424180G>A	ENST00000380649.3	-	13	1359	c.1230C>T	c.(1228-1230)gaC>gaT	p.D410D		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	410					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TCTTCACTTTGTCATTCAATC	0.403													A	26424180	G	A	26424180	2	1	364	1	0	0	0	0	0	0	0	1	6998	1368	48	2		2	HADHA	2	26424180	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	457083	26424180	216775193	1699	25201											
GPR113	165082	broad.mit.edu	37	chr2	26532842	26532842	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcccatgtcctctgaGgagggccatggaatgccttc	6	10	13	12	0	1	1	0	1	1	0	3	3	2	3	4	3	2	1	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26532842G>T	ENST00000311519.1	-	13	3209	c.3210C>A	c.(3208-3210)tcC>tcA	p.S1070S	GPR113_ENST00000333478.6_Intron|GPR113_ENST00000459892.1_Intron|GPR113_ENST00000421160.2_Intron|GPR113_ENST00000541401.1_Intron	NM_001145168.1	NP_001138640.1	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	1070					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTCCTCTGAGGAGGGCCATG	0.552													T	26532842	G	T	26532842	2	4	364	1	0	0	0	0	0	0	0	1	6684	987	35	4		4	GPR113	2	26532842	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108662	26532842	216666531	1700	25202											
GPR113	165082	broad.mit.edu	37	chr2	26534792	26534792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattgggtaagctgaaggCgaaggggtggtcctgtgggc	8	8	18	7	1	0	1	0	1	0	0	1	2	1	1	1	6	1	2	1	6	3	2	rs147071305		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26534792C>T	ENST00000333478.6	-	8	1789	c.1207G>A	c.(1207-1209)Gcc>Acc	p.A403T	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.A602T|GPR113_ENST00000421160.2_Missense_Mutation_p.A533T|GPR113_ENST00000541401.1_Missense_Mutation_p.A205T	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	602					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGCTGAAGGCGAAGGGGTGG	0.642													T	26534792	C	T	26534792	3	4	364	1	0	0	0	0	1	0	0	0	6684	768	27	1	1536	1	GPR113	2	26534792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1950	26534792	216664581	1701	25203											
GPR113	165082	broad.mit.edu	37	chr2	26536733	26536733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggcagcgctgaacagccaGcacaaagcactgagagcctg	12	3	13	13	2	0	2	0	2	0	1	0	3	0	2	2	1	6	4	2	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26536733G>T	ENST00000333478.6	-	5	1156	c.574C>A	c.(574-576)Ctg>Atg	p.L192M	GPR113_ENST00000459892.1_5'UTR|GPR113_ENST00000311519.1_Missense_Mutation_p.L391M|GPR113_ENST00000421160.2_Missense_Mutation_p.L322M|GPR113_ENST00000541401.1_De_novo_Start_InFrame	NM_153835.3	NP_722577.2	Q8IZF5	GP113_HUMAN	G protein-coupled receptor 113	391					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGAACAGCCAGCACAAAGCAC	0.592													T	26536733	G	T	26536733	3	4	364	1	0	0	0	0	1	0	0	0	6684	962	34	4	2181	4	GPR113	2	26536733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1941	26536733	216662640	1702	25204											
OTOF	9381	broad.mit.edu	37	chr2	26688593	26688593	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggtgcttgctgtagaagcgGttctccaggtcgatcttggt	5	13	14	9	3	2	1	0	0	2	1	4	2	2	1	1	4	3	4	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26688593G>A	ENST00000272371.2	-	38	4872	c.4746C>T	c.(4744-4746)aaC>aaT	p.N1582N	OTOF_ENST00000403946.3_Silent_p.N1582N|OTOF_ENST00000338581.6_Silent_p.N815N|OTOF_ENST00000402415.3_Silent_p.N892N|OTOF_ENST00000339598.3_Silent_p.N815N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1582					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTAGAAGCGGTTCTCCAGGT	0.617													A	26688593	G	A	26688593	2	1	364	1	0	0	0	0	0	0	0	1	11379	1252	44	2		2	OTOF	2	26688593	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151860	26688593	216510780	1703	25205											
OTOF	9381	broad.mit.edu	37	chr2	26739295	26739295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcctgttacctccggaagCtcttctctcctgggggccgg	3	11	12	15	2	2	0	0	0	2	0	5	1	4	1	5	4	3	2	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:26739295C>A	ENST00000272371.2	-	5	626	c.500G>T	c.(499-501)aGc>aTc	p.S167I	OTOF_ENST00000403946.3_Missense_Mutation_p.S167I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	167					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCCGGAAGCTCTTCTCTCC	0.637													A	26739295	C	A	26739295	3	1	364	1	0	0	0	0	1	0	0	0	11379	797	28	4	5990	4	OTOF	2	26739295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50702	26739295	216460078	1704	25206											
AGBL5	60509	broad.mit.edu	37	chr2	27275942	27275942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggggtaggaggtggggCgtcagccctgaccagtggca	8	5	20	8	1	1	1	1	1	0	0	1	3	1	3	2	8	1	2	2	8	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27275942C>T	ENST00000360131.4	+	2	275	c.116C>T	c.(115-117)gCg>gTg	p.A39V	AGBL5_ENST00000323064.8_Missense_Mutation_p.A39V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	39				GAS -> CLL (in Ref. 5; AAI31499).	protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGAGGTGGGGCGTCAGCCCTG	0.542													T	27275942	C	T	27275942	3	4	364	1	0	0	0	0	1	0	0	0	378	768	27	1	118	1	AGBL5	2	27275942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	536647	27275942	215923431	1705	25207											
AGBL5	60509	broad.mit.edu	37	chr2	27277665	27277665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgaccattccgtttcgCaggcaagagggtgagtggaa	9	8	13	11	3	0	2	0	1	0	1	3	4	1	3	3	3	0	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27277665C>T	ENST00000360131.4	+	5	878	c.719C>T	c.(718-720)gCa>gTa	p.A240V	AGBL5_ENST00000323064.8_Missense_Mutation_p.A240V	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	240					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTCCGTTTCGCAGGCAAGAGG	0.488													T	27277665	C	T	27277665	3	4	364	1	0	0	0	0	1	0	0	0	378	710	25	2	733	2	AGBL5	2	27277665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1723	27277665	215921708	1706	25208											
AGBL5	60509	broad.mit.edu	37	chr2	27293046	27293046	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctgactccccatcctggaAttgttacagcaggggtccct	8	11	9	13	0	1	1	0	1	1	0	4	2	4	2	4	3	2	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27293046A>C	ENST00000360131.4	+	15	2735	c.2576A>C	c.(2575-2577)aAt>aCt	p.N859T		NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	859					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCATCCTGGAATTGTTACAGC	0.547													C	27293046	A	C	27293046	3	2	364	1	0	0	0	0	1	0	0	0	378	101	4	5	2695	5	AGBL5	2	27293046	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15381	27293046	215906327	1707	25209											
EMILIN1	11117	broad.mit.edu	37	chr2	27306234	27306234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggccgccttcgggatggtGtggagcgctgctcctgcccc	3	9	15	14	3	0	0	0	0	0	0	2	2	1	2	5	4	3	2	5	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27306234G>A	ENST00000380320.4	+	4	2294	c.1795G>A	c.(1795-1797)Gtg>Atg	p.V599M		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	599					cell adhesion	collagen				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCGGGATGGTGTGGAGCGCTG	0.697													A	27306234	G	A	27306234	3	1	364	1	0	0	0	0	1	0	0	0	5134	1377	48	2	1809	2	EMILIN1	2	27306234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13188	27306234	215893139	1708	25210											
CGREF1	10669	broad.mit.edu	37	chr2	27327221	27327221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggattaacactgtcatcGtcaaaggtaacatccttcct	12	11	7	11	1	2	0	2	0	0	0	5	1	4	1	2	2	2	2	2	2	3	3	rs112618911	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27327221G>A	ENST00000402394.1	-	2	282	c.14C>T	c.(13-15)aCg>aTg	p.T5M	CGREF1_ENST00000260595.5_Missense_Mutation_p.T5M|CGREF1_ENST00000404694.3_Missense_Mutation_p.T127M|CGREF1_ENST00000402550.1_Missense_Mutation_p.T5M|CGREF1_ENST00000405600.1_Missense_Mutation_p.T5M|CGREF1_ENST00000312734.4_Missense_Mutation_p.T5M|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	5					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CACTGTCATCGTCAAAGGTAA	0.567													A	27327221	G	A	27327221	3	1	364	1	0	0	0	0	1	0	0	0	3335	1145	40	1	1154	1	CGREF1	2	27327221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20987	27327221	215872152	1709	25211											
ABHD1	84696	broad.mit.edu	37	chr2	27351333	27351333	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggctggtggctgggccgCagtttctggccttcctggag	2	11	16	12	2	1	0	0	0	1	0	3	1	2	1	3	6	0	4	3	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27351333C>T	ENST00000316470.4	+	2	253	c.139C>T	c.(139-141)Cag>Tag	p.Q47*		NM_032604.3	NP_115993	Q96SE0	ABHD1_HUMAN	abhydrolase domain containing 1	47						integral to membrane	carboxylesterase activity			endometrium(1)|kidney(1)|lung(3)	5	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCTGGGCCGCAGTTTCTGGC	0.567													T	27351333	C	T	27351333	4	4	364	1	0	0	0	0	0	1	0	0	73	711	25	2	145	2	ABHD1	2	27351333	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24112	27351333	215848040	1710	25212											
PREB	10113	broad.mit.edu	37	chr2	27355486	27355486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacctgcaggcctggtagCggtaaggtgtgctggaaaag	10	7	15	9	1	0	0	0	0	0	0	0	1	0	1	2	5	3	4	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27355486C>T	ENST00000260643.2	-	5	990	c.737G>A	c.(736-738)cGc>cAc	p.R246H	PREB_ENST00000406567.3_Missense_Mutation_p.R246H	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	246					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTGGTAGCGGTAAGGTGT	0.587													T	27355486	C	T	27355486	3	4	364	1	0	0	0	0	1	0	0	0	12556	768	27	1	536	1	PREB	2	27355486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4153	27355486	215843887	1711	25213											
CAD	790	broad.mit.edu	37	chr2	27454415	27454415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgagaactgtgtgggCtttgatcacacagtgaaacc	11	10	13	7	0	1	3	1	3	0	1	1	5	1	4	1	2	2	1	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27454415C>T	ENST00000264705.4	+	16	2529	c.2367C>T	c.(2365-2367)ggC>ggT	p.G789G	CAD_ENST00000403525.1_Silent_p.G726G|CAD_ENST00000464159.1_3'UTR	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	789	CPSase (Carbamoyl-phosphate synthase).|CPSase A.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	ACTGTGTGGGCTTTGATCACA	0.532													T	27454415	C	T	27454415	2	4	364	1	0	0	0	0	0	0	0	1	2591	784	28	2		2	CAD	2	27454415	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98929	27454415	215744958	1712	25214											
CAD	790	broad.mit.edu	37	chr2	27456617	27456617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagcgcttcctgagcagcGcagcagccgtctccaaagag	9	6	13	13	3	1	2	0	1	1	1	3	3	2	3	3	1	5	4	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27456617G>A	ENST00000264705.4	+	21	3502	c.3340G>A	c.(3340-3342)Gca>Aca	p.A1114T	CAD_ENST00000403525.1_Missense_Mutation_p.A1051T	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1114	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CCTGAGCAGCGCAGCAGCCGT	0.607													A	27456617	G	A	27456617	3	1	364	1	0	0	0	0	1	0	0	0	2591	1087	38	1	3422	1	CAD	2	27456617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2202	27456617	215742756	1713	25215											
CAD	790	broad.mit.edu	37	chr2	27461971	27461971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggttcccagggttagaGaccatgctgccactactcct	7	10	10	14	0	0	1	0	0	0	1	2	2	2	1	5	2	3	3	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27461971G>T	ENST00000264705.4	+	32	5286	c.5124G>T	c.(5122-5124)gaG>gaT	p.E1708D	CAD_ENST00000403525.1_Missense_Mutation_p.E1645D	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1708	DHOase (dihydroorotase).				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CAGGGTTAGAGACCATGCTGC	0.602													T	27461971	G	T	27461971	3	4	364	1	0	0	0	0	1	0	0	0	2591	933	33	4	5250	4	CAD	2	27461971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5354	27461971	215737402	1714	25216											
MPV17	4358	broad.mit.edu	37	chr2	27545327	27545327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acactcaccagctgtcaggaCctgtactttccacgggtgag	9	9	10	13	1	2	1	2	1	0	0	3	2	3	2	3	2	2	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27545327C>T	ENST00000380044.1	-	2	113	c.58G>A	c.(58-60)Gtc>Atc	p.V20I	MPV17_ENST00000402310.1_Missense_Mutation_p.V20I|MPV17_ENST00000405076.1_Missense_Mutation_p.V20I|MPV17_ENST00000403262.2_Missense_Mutation_p.V20I|MPV17_ENST00000233545.2_Missense_Mutation_p.V20I|MPV17_ENST00000357186.6_Intron|MPV17_ENST00000405983.1_Missense_Mutation_p.V20I|MPV17_ENST00000402722.1_Missense_Mutation_p.V20I|MPV17_ENST00000399052.4_Missense_Mutation_p.V20I	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	20					cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCTGTCAGGACCTGTACTTTC	0.627													T	27545327	C	T	27545327	3	4	364	1	0	0	0	0	1	0	0	0	9821	507	18	2	500	2	MPV17	2	27545327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83356	27545327	215654046	1715	25217											
SNX17	9784	broad.mit.edu	37	chr2	27597589	27597589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctatgatgacgatgtcatGgagaaccgggttggcctgaa	10	9	14	8	2	1	4	1	3	0	1	1	6	1	4	3	3	1	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27597589G>T	ENST00000233575.2	+	8	867	c.645G>T	c.(643-645)atG>atT	p.M215I	SNX17_ENST00000537606.1_Missense_Mutation_p.M190I|SNX17_ENST00000542478.1_Start_Codon_SNP_p.M1I|SNX17_ENST00000543024.1_Start_Codon_SNP_p.M1I	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	215					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGATGTCATGGAGAACCGGG	0.522													T	27597589	G	T	27597589	3	4	364	1	0	0	0	0	1	0	0	0	14982	1348	47	4	675	4	SNX17	2	27597589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52262	27597589	215601784	1716	25218											
SNX17	9784	broad.mit.edu	37	chr2	27599026	27599026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgaactgatggtgaaGaaatctggcggcagtatcag	12	10	14	5	1	2	5	1	4	1	1	2	5	2	5	0	3	1	3	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27599026G>T	ENST00000233575.2	+	12	1380	c.1158G>T	c.(1156-1158)aaG>aaT	p.K386N	SNX17_ENST00000537606.1_Missense_Mutation_p.K361N|SNX17_ENST00000542478.1_Missense_Mutation_p.K172N|SNX17_ENST00000543024.1_Missense_Mutation_p.K172N	NM_001267059.1|NM_001267061.1|NM_014748.3	NP_001253988.1|NP_001253990.1|NP_055563.1	Q15036	SNX17_HUMAN	sorting nexin 17	386					cell communication|endosome transport|intracellular protein transport|regulation of endocytosis|signal transduction	cytoplasmic vesicle membrane|cytosol|early endosome|Golgi apparatus	low-density lipoprotein particle receptor binding|phosphatidylinositol binding|protein C-terminus binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGGTGAAGAAATCTGGCG	0.512													T	27599026	G	T	27599026	3	4	364	1	0	0	0	0	1	0	0	0	14982	933	33	4	1204	4	SNX17	2	27599026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1437	27599026	215600347	1717	25219											
NRBP1	29959	broad.mit.edu	37	chr2	27663750	27663750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggaggtgacatcacctgtCgtgcccccctctgtcaagac	8	8	11	14	1	3	2	2	1	1	1	4	4	3	3	4	2	1	0	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27663750C>T	ENST00000233557.3	+	15	2104	c.1272C>T	c.(1270-1272)gtC>gtT	p.V424V	NRBP1_ENST00000379852.3_Silent_p.V424V|NRBP1_ENST00000379863.3_Silent_p.V432V			Q9UHY1	NRBP_HUMAN	nuclear receptor binding protein 1	424					ER to Golgi vesicle-mediated transport|gene expression|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cell cortex|endomembrane system|lamellipodium|membrane|nucleoplasm	ATP binding|protein homodimerization activity|protein kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Acute lymphoblastic leukemia(172;0.155)					CATCACCTGTCGTGCCCCCCT	0.602													T	27663750	C	T	27663750	2	4	364	1	0	0	0	0	0	0	0	1	10718	871	31	1		1	NRBP1	2	27663750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64724	27663750	215535623	1718	25220											
KRTCAP3	200634	broad.mit.edu	37	chr2	27666108	27666108	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaccactggatgaggggccGggacatactgactgcccctt	8	8	13	12	1	0	2	0	2	0	0	0	4	0	4	4	4	3	1	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27666108G>A	ENST00000543753.1	+	4	488	c.441G>A	c.(439-441)ccG>ccA	p.P147P	KRTCAP3_ENST00000288873.3_Silent_p.P147P|KRTCAP3_ENST00000407293.1_Silent_p.P129P	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	147						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					ATGAGGGGCCGGGACATACTG	0.542													A	27666108	G	A	27666108	2	1	364	1	0	0	0	0	0	0	0	1	8638	1103	39	1		1	KRTCAP3	2	27666108	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2358	27666108	215533265	1719	25221											
IFT172	26160	broad.mit.edu	37	chr2	27676877	27676877	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgagggccaggcctggtCtctgggcccggagcagcagc	7	6	16	12	1	1	1	0	1	1	0	2	2	1	2	3	5	3	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27676877C>A	ENST00000260570.3	-	33	3786	c.3683G>T	c.(3682-3684)aGa>aTa	p.R1228I		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	1228					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					CAGGCCTGGTCTCTGGGCCCG	0.617													A	27676877	C	A	27676877	3	1	364	1	0	0	0	0	1	0	0	0	7615	913	32	4	1630	4	IFT172	2	27676877	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10769	27676877	215522496	1720	25222											
C2orf16	84226	broad.mit.edu	37	chr2	27799629	27799629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacaggatgtgaaatctttgGagtttactgtagagccaaag	14	11	11	5	0	1	2	0	1	1	1	1	4	1	4	1	2	3	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799629G>A	ENST00000408964.2	+	1	241	c.190G>A	c.(190-192)Gag>Aag	p.E64K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	64										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAAATCTTTGGAGTTTACTGT	0.413													A	27799629	G	A	27799629	3	1	364	1	0	0	0	0	1	0	0	0	2178	1175	41	2	192	2	C2orf16	2	27799629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122752	27799629	215399744	1721	25223											
C2orf16	84226	broad.mit.edu	37	chr2	27799956	27799956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattggcatataaaggcataGatactgtagagaaatctgtg	15	11	11	4	0	1	2	0	0	1	2	1	4	1	2	0	2	1	3	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27799956G>A	ENST00000408964.2	+	1	568	c.517G>A	c.(517-519)Gat>Aat	p.D173N		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	173										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAGGCATAGATACTGTAGA	0.403													A	27799956	G	A	27799956	3	1	364	1	0	0	0	0	1	0	0	0	2178	942	33	2	519	2	C2orf16	2	27799956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	27799956	215399417	1722	25224											
C2orf16	84226	broad.mit.edu	37	chr2	27801251	27801251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaatcgtaaaatctgaGgagttagcaccaggaccaat	15	9	8	9	1	2	1	1	1	1	0	3	3	2	3	2	2	1	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801251G>T	ENST00000408964.2	+	1	1863	c.1812G>T	c.(1810-1812)gaG>gaT	p.E604D		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	604										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					TAAAATCTGAGGAGTTAGCAC	0.413													T	27801251	G	T	27801251	3	4	364	1	0	0	0	0	1	0	0	0	2178	991	35	4	1814	4	C2orf16	2	27801251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1295	27801251	215398122	1723	25225											
C2orf16	84226	broad.mit.edu	37	chr2	27801488	27801488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcataaacaagggcttcaGgctgtgaaatctacagtgat	14	10	9	8	0	3	2	2	2	1	0	3	2	3	2	0	2	2	2	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27801488G>T	ENST00000408964.2	+	1	2100	c.2049G>T	c.(2047-2049)caG>caT	p.Q683H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	683										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AAGGGCTTCAGGCTGTGAAAT	0.413													T	27801488	G	T	27801488	3	4	364	1	0	0	0	0	1	0	0	0	2178	991	35	4	2051	4	C2orf16	2	27801488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	237	27801488	215397885	1724	25226											
C2orf16	84226	broad.mit.edu	37	chr2	27802252	27802252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctgaactgatggaacCttcccagagcctgccagaga	11	7	10	13	0	0	4	0	2	0	2	2	6	2	5	5	1	5	1	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27802252C>A	ENST00000408964.2	+	1	2864	c.2813C>A	c.(2812-2814)cCt>cAt	p.P938H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	938										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CTGATGGAACCTTCCCAGAGC	0.403													A	27802252	C	A	27802252	3	1	364	1	0	0	0	0	1	0	0	0	2178	681	24	4	2815	4	C2orf16	2	27802252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	764	27802252	215397121	1725	25227											
C2orf16	84226	broad.mit.edu	37	chr2	27804294	27804294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatcactgcagtccccccGagaggagctgtcacagtctc	10	7	10	14	1	3	1	2	0	1	1	5	4	4	2	3	1	2	2	3	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27804294G>A	ENST00000408964.2	+	1	4906	c.4855G>A	c.(4855-4857)Gag>Aag	p.E1619K		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1619	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAGTCCCCCCGAGAGGAGCTG	0.567													A	27804294	G	A	27804294	3	1	364	1	0	0	0	0	1	0	0	0	2178	1059	37	1	4857	1	C2orf16	2	27804294	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2042	27804294	215395079	1726	25228											
ZNF512	84450	broad.mit.edu	37	chr2	27844111	27844111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagaaaagcggaggcAgcagcacaggagcagaaggt	18	1	16	6	1	0	4	0	0	0	4	0	6	0	6	0	4	4	4	0	4	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27844111A>G	ENST00000355467.4	+	14	1570	c.1487A>G	c.(1486-1488)cAg>cGg	p.Q496R	ZNF512_ENST00000556601.1_Missense_Mutation_p.Q365R|ZNF512_ENST00000416005.2_Missense_Mutation_p.Q467R|ZNF512_ENST00000413371.2_Missense_Mutation_p.Q419R|ZNF512_ENST00000379717.1_Missense_Mutation_p.Q495R|RP11-158I13.2_ENST00000505973.1_RNA	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AAGCGGAGGCAGCAGCACAGG	0.512													G	27844111	A	G	27844111	3	3	364	1	0	0	0	0	1	0	0	0	18057	188	7	3	1541	3	ZNF512	2	27844111	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39817	27844111	215355262	1727	25229											
GPN1	11321	broad.mit.edu	37	chr2	27861839	27861839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcaagagactacatacGtcagtaacctgactcgttca	14	10	7	10	2	3	3	3	2	0	1	4	4	3	3	1	0	3	2	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861839G>A	ENST00000264718.3	+	9	721	c.700G>A	c.(700-702)Gtc>Atc	p.V234I	GPN1_ENST00000610189.1_Missense_Mutation_p.V220I|GPN1_ENST00000503738.1_Missense_Mutation_p.V125I|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.V141I|GPN1_ENST00000424214.1_Missense_Mutation_p.V141I|GPN1_ENST00000458167.2_Missense_Mutation_p.V125I|GPN1_ENST00000407583.3_Missense_Mutation_p.V208I			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	220						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						GACTACATACGTCAGTAACCT	0.458													A	27861839	G	A	27861839	3	1	364	1	0	0	0	0	1	0	0	0	6671	1145	40	1	817	1	GPN1	2	27861839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17728	27861839	215337534	1728	25230											
GPN1	11321	broad.mit.edu	37	chr2	27861864	27861864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctgactcgttcaatgaGcctggtgttagatgagtttt	9	15	10	7	1	1	4	1	3	0	1	2	4	1	4	2	1	2	3	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27861864G>A	ENST00000264718.3	+	9	746	c.725G>A	c.(724-726)aGc>aAc	p.S242N	GPN1_ENST00000610189.1_Missense_Mutation_p.S228N|GPN1_ENST00000503738.1_Missense_Mutation_p.S133N|GPN1_ENST00000461249.1_3'UTR|GPN1_ENST00000515877.1_Missense_Mutation_p.S149N|GPN1_ENST00000424214.1_Missense_Mutation_p.S149N|GPN1_ENST00000458167.2_Missense_Mutation_p.S133N|GPN1_ENST00000407583.3_Missense_Mutation_p.S216N			Q9HCN4	GPN1_HUMAN	GPN-loop GTPase 1	228						cytoplasm	GTP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|large_intestine(1)|lung(12)	14						CGTTCAATGAGCCTGGTGTTA	0.453													A	27861864	G	A	27861864	3	1	364	1	0	0	0	0	1	0	0	0	6671	971	34	2	842	2	GPN1	2	27861864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25	27861864	215337509	1729	25231											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27887225	27887225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcgacgtgtgcctggaGcacccttcggtgtctcggta	4	10	15	12	4	1	0	0	0	1	0	3	2	1	1	2	4	3	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887225G>A	ENST00000326019.6	+	1	888	c.606G>A	c.(604-606)gaG>gaA	p.E202E		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	202	FHA.					cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TGTGCCTGGAGCACCCTTCGG	0.622													A	27887225	G	A	27887225	2	1	364	1	0	0	0	0	0	0	0	1	14747	962	34	2		2	SLC4A1AP	2	27887225	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25361	27887225	215312148	1730	25232											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27887975	27887975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggttcatcagggaccagaGgaagaccgagaggcagaatc	13	6	14	8	1	2	4	2	0	0	4	3	7	2	6	2	4	0	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:27887975G>T	ENST00000326019.6	+	2	1116	c.834G>T	c.(832-834)gaG>gaT	p.E278D		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	278						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					AGGGACCAGAGGAAGACCGAG	0.453													T	27887975	G	T	27887975	3	4	364	1	0	0	0	0	1	0	0	0	14747	991	35	4	840	4	SLC4A1AP	2	27887975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	750	27887975	215311398	1731	25233											
RBKS	64080	broad.mit.edu	37	chr2	28050435	28050435	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaattttaaaacttaccGtggtatccacagccttgact	12	14	5	10	1	0	1	0	1	0	0	1	1	1	1	3	1	3	1	3	1	6	6	rs143709910		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28050435G>A	ENST00000302188.3	-	7	1546	c.794C>T	c.(793-795)aCg>aTg	p.T265M	RBKS_ENST00000444339.2_Splice_Site_p.T265M	NM_022128.1	NP_071411.1	Q9H477	RBSK_HUMAN	ribokinase	265					D-ribose metabolic process		ATP binding|ribokinase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(172;0.155)					AAAACTTACCGTGGTATCCAC	0.383													A	28050435	G	A	28050435	5	1	364	1	0	0	0	0	0	0	1	0	13196	1159	40	1	182	1	RBKS	2	28050435	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162460	28050435	215148938	1732	25234											
PLB1	151056	broad.mit.edu	37	chr2	28762004	28762004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctggtggacctctctgaGgttgcagaggtctctcgtca	7	11	12	11	1	3	2	1	1	2	1	6	3	3	3	2	4	2	2	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28762004G>T	ENST00000422425.2	+	11	734	c.690G>T	c.(688-690)gaG>gaT	p.E230D	PLB1_ENST00000327757.5_Missense_Mutation_p.E219D	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	219	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					ACCTCTCTGAGGTTGCAGAGG	0.562													T	28762004	G	T	28762004	3	4	364	1	0	0	0	0	1	0	0	0	12101	991	35	4	732	4	PLB1	2	28762004	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	711569	28762004	214437369	1733	25235											
PLB1	151056	broad.mit.edu	37	chr2	28785917	28785917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattcttagttcataggcTgaagccggctgacatcaacg	11	12	9	9	2	3	2	2	2	1	0	3	2	3	2	1	2	2	3	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28785917T>C	ENST00000422425.2	+	18	1234	c.1190T>C	c.(1189-1191)cTg>cCg	p.L397P	PLB1_ENST00000329020.6_Missense_Mutation_p.L74P|PLB1_ENST00000327757.5_Missense_Mutation_p.L386P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	386	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					GTTCATAGGCTGAAGCCGGCT	0.483													C	28785917	T	C	28785917	3	2	364	1	0	0	0	0	1	0	0	0	12101	1580	55	3	1260	3	PLB1	2	28785917	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23913	28785917	214413456	1734	25236											
PLB1	151056	broad.mit.edu	37	chr2	28847958	28847958	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctgggacctggtagagCgaatgaaaaacagccccgtg	12	5	14	10	2	0	2	0	1	0	1	0	4	0	3	4	3	3	1	4	3	4	1	rs145118329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:28847958C>T	ENST00000422425.2	+	49	3573	c.3529C>T	c.(3529-3531)Cga>Tga	p.R1177*	PLB1_ENST00000541605.1_Nonsense_Mutation_p.R153*|PLB1_ENST00000327757.5_Nonsense_Mutation_p.R1188*	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	1188	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CCTGGTAGAGCGAATGAAAAA	0.637													T	28847958	C	T	28847958	4	4	364	1	0	0	0	0	0	1	0	0	12101	760	27	1	3793	1	PLB1	2	28847958	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62041	28847958	214351415	1735	25237											
TRMT61B	55006	broad.mit.edu	37	chr2	29084149	29084149	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcttttcgtacctcaaaActtatgactcgtccttgtga	8	16	7	10	2	2	2	1	2	1	0	5	2	3	2	2	1	2	1	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29084149A>G	ENST00000306108.5	-	3	851	c.828T>C	c.(826-828)agT>agC	p.S276S	TRMT61B_ENST00000484060.1_5'UTR	NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	276							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GTACCTCAAAACTTATGACTC	0.318													G	29084149	A	G	29084149	2	3	364	1	0	0	0	0	0	0	0	1	16671	40	2	3		3	TRMT61B	2	29084149	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	236191	29084149	214115224	1736	25238											
C2orf71	388939	broad.mit.edu	37	chr2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttgctggggctgcGcctctggctgggatttgtcc	1	13	13	14	1	2	0	0	0	2	0	4	1	4	1	4	4	2	3	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29287763G>A	ENST00000331664.5	-	2	3838	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1280					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657													A	29287763	G	A	29287763	3	1	364	1	0	0	0	0	1	0	0	0	2212	1087	38	1	31	1	C2orf71	2	29287763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203614	29287763	213911610	1737	25239											
C2orf71	388939	broad.mit.edu	37	chr2	29293713	29293713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggggtcagtgggtgggctgTtgagagtggcggtttagctt	4	13	20	4	1	1	1	1	1	0	1	1	2	1	1	0	6	1	4	0	6	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29293713T>C	ENST00000331664.5	-	1	3414	c.3415A>G	c.(3415-3417)Aca>Gca	p.T1139A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1139					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGTGGGCTGTTGAGAGTGGC	0.577													C	29293713	T	C	29293713	3	2	364	1	0	0	0	0	1	0	0	0	2212	1725	60	3	459	3	C2orf71	2	29293713	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5950	29293713	213905660	1738	25240											
C2orf71	388939	broad.mit.edu	37	chr2	29294474	29294474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtccagggggctcacaGaggccctcagctttggggaa	9	6	15	11	0	2	1	2	0	0	1	3	2	3	2	2	5	1	3	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29294474G>T	ENST00000331664.5	-	1	2653	c.2654C>A	c.(2653-2655)tCt>tAt	p.S885Y		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	885					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						GGGGCTCACAGAGGCCCTCAG	0.662													T	29294474	G	T	29294474	3	4	364	1	0	0	0	0	1	0	0	0	2212	942	33	4	1220	4	C2orf71	2	29294474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	761	29294474	213904899	1739	25241											
C2orf71	388939	broad.mit.edu	37	chr2	29296260	29296260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccctccaggaagctgcCggtgagcgaggccactgtgc	7	5	16	13	2	0	1	0	1	0	0	1	4	1	3	4	4	5	1	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29296260C>T	ENST00000331664.5	-	1	867	c.868G>A	c.(868-870)Ggc>Agc	p.G290S		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	290					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						AGGAAGCTGCCGGTGAGCGAG	0.557													T	29296260	C	T	29296260	3	4	364	1	0	0	0	0	1	0	0	0	2212	652	23	1	3006	1	C2orf71	2	29296260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1786	29296260	213903113	1740	25242											
CLIP4	79745	broad.mit.edu	37	chr2	29383270	29383270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccgcctcggagagagaGtgttagtggtaggacagaga	12	7	15	7	2	0	3	0	0	0	3	2	7	1	4	2	3	1	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29383270G>T	ENST00000320081.5	+	12	1726	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	CLIP4_ENST00000401617.2_Missense_Mutation_p.V384L|CLIP4_ENST00000401605.1_Missense_Mutation_p.V491L|CLIP4_ENST00000404424.1_Missense_Mutation_p.V491L	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	491										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					CGGAGAGAGAGTGTTAGTGGT	0.468													T	29383270	G	T	29383270	3	4	364	1	0	0	0	0	1	0	0	0	3566	1029	36	4	1513	4	CLIP4	2	29383270	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87010	29383270	213816103	1741	25243											
CLIP4	79745	broad.mit.edu	37	chr2	29386732	29386732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagagcttgaaaaaccccatGgcaagaatgatggttcagtt	14	10	10	7	0	1	4	1	2	0	2	1	4	1	4	2	2	2	4	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29386732G>T	ENST00000320081.5	+	13	1825	c.1570G>T	c.(1570-1572)Ggc>Tgc	p.G524C	CLIP4_ENST00000401617.2_Missense_Mutation_p.G417C|CLIP4_ENST00000401605.1_Missense_Mutation_p.G524C|CLIP4_ENST00000404424.1_Missense_Mutation_p.G524C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	524	CAP-Gly 2.									endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					AAAACCCCATGGCAAGAATGA	0.393													T	29386732	G	T	29386732	3	4	364	1	0	0	0	0	1	0	0	0	3566	1348	47	4	1616	4	CLIP4	2	29386732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3462	29386732	213812641	1742	25244											
ALK	238	broad.mit.edu	37	chr2	29519866	29519866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccggttttgttctccaCtagcaccaaggacacgtttc	7	13	7	14	2	1	0	0	0	1	0	4	1	2	1	3	2	1	4	3	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29519866C>T	ENST00000389048.3	-	9	2611	c.1705G>A	c.(1705-1707)Gtg>Atg	p.V569M	ALK_ENST00000498037.1_5'UTR|ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	569	MAM 2.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	TTGTTCTCCACTAGCACCAAG	0.557			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	29519866	C	T	29519866	3	4	364	1	0	0	0	0	1	0	0	0	525	565	20	2	3241	2	ALK	2	29519866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133134	29519866	213679507	1743	25245											
ALK	238	broad.mit.edu	37	chr2	29754876	29754876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttccagagggctgcaggtgCctgtgcaccgagacggccag	7	6	15	13	2	0	2	0	0	0	2	1	3	1	2	4	3	3	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:29754876C>T	ENST00000389048.3	-	4	1965	c.1059G>A	c.(1057-1059)agG>agA	p.R353R	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	353	MAM 1.				protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)	GCTGCAGGTGCCTGTGCACCG	0.592			"T, Mis, A"	"NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"	"ALCL, NSCLC, Neuroblastoma"	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	29754876	C	T	29754876	2	4	364	1	0	0	0	0	0	0	0	1	525	738	26	2		2	ALK	2	29754876	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235010	29754876	213444497	1744	25246											
YPEL5	51646	broad.mit.edu	37	chr2	30379582	30379582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgcaaactgtgataCgatcctgaccaaccgctcag	10	11	8	12	2	2	2	1	2	1	0	3	3	3	2	3	0	4	2	3	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30379582C>T	ENST00000379520.3	+	4	569	c.65C>T	c.(64-66)aCg>aTg	p.T22M	YPEL5_ENST00000261353.4_Missense_Mutation_p.T22M|YPEL5_ENST00000402003.3_Missense_Mutation_p.T22M|YPEL5_ENST00000402708.1_Missense_Mutation_p.T22M|YPEL5_ENST00000379519.3_Missense_Mutation_p.T22M|YPEL5_ENST00000495673.1_3'UTR	NM_001127401.1	NP_001120873.1	P62699	YPEL5_HUMAN	yippee-like 5 (Drosophila)	22							peptide-methionine-(S)-S-oxide reductase activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|prostate(1)	7	Acute lymphoblastic leukemia(172;0.155)					AACTGTGATACGATCCTGACC	0.428													T	30379582	C	T	30379582	3	4	364	1	0	0	0	0	1	0	0	0	17595	536	19	1	67	1	YPEL5	2	30379582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	624706	30379582	212819791	1745	25247											
LCLAT1	253558	broad.mit.edu	37	chr2	30863415	30863415	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatatttggtggactggAgatcatagaacttgcatgtt	12	13	12	4	0	1	3	1	0	0	3	1	6	1	4	0	3	2	2	0	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30863415A>T	ENST00000309052.4	+	7	1384	c.1175A>T	c.(1174-1176)gAg>gTg	p.E392V	LCLAT1_ENST00000540623.1_Missense_Mutation_p.E354V|LCLAT1_ENST00000379509.3_Missense_Mutation_p.E354V|LCLAT1_ENST00000491680.2_3'UTR	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	392					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GGTGGACTGGAGATCATAGAA	0.343													T	30863415	A	T	30863415	3	4	364	1	0	0	0	0	1	0	0	0	8736	304	11	5	1197	5	LCLAT1	2	30863415	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	483833	30863415	212335958	1746	25248											
CAPN13	92291	broad.mit.edu	37	chr2	30959398	30959398	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaggcgcttccacagtcGcgcaaactcctcttggtcta	10	9	8	14	3	2	0	0	0	2	0	5	0	4	0	2	2	2	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30959398G>A	ENST00000295055.8	-	18	1869	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	CAPN13_ENST00000534090.2_Nonsense_Mutation_p.R565*	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	565	EF-hand 1.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTCCACAGTCGCGCAAACTCC	0.537													A	30959398	G	A	30959398	4	1	364	1	0	0	0	0	0	1	0	0	2652	1095	38	1	336	1	CAPN13	2	30959398	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95983	30959398	212239975	1747	25249											
CAPN13	92291	broad.mit.edu	37	chr2	30980986	30980986	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagataatttcttcccaGccccttcggtattgaatctg	9	13	9	10	1	2	2	0	1	2	1	4	3	3	2	3	2	1	1	3	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30980986G>A	ENST00000295055.8	-	8	968	c.792C>T	c.(790-792)ggC>ggT	p.G264G	CAPN13_ENST00000534090.2_Silent_p.G264G|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	264	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTTCTTCCCAGCCCCTTCGGT	0.512													A	30980986	G	A	30980986	2	1	364	1	0	0	0	0	0	0	0	1	2652	958	34	2		2	CAPN13	2	30980986	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21588	30980986	212218387	1748	25250											
CAPN13	92291	broad.mit.edu	37	chr2	30993237	30993237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggttttggtggcgaggacGcacaaagaggcatttatctc	9	12	13	7	2	1	1	0	0	1	1	2	3	1	2	0	5	0	3	0	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:30993237G>A	ENST00000295055.8	-	5	642	c.466C>T	c.(466-468)Cgt>Tgt	p.R156C	CAPN13_ENST00000534090.2_Missense_Mutation_p.R156C|CAPN13_ENST00000465960.2_5'UTR	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	156	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGGCGAGGACGCACAAAGAGG	0.552													A	30993237	G	A	30993237	3	1	364	1	0	0	0	0	1	0	0	0	2652	1087	38	1	1615	1	CAPN13	2	30993237	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12251	30993237	212206136	1749	25251											
CAPN13	92291	broad.mit.edu	37	chr2	31010224	31010224	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttccgaggtcctttcCtgttggtgagaaaaagggat	11	11	12	7	1	0	2	0	1	0	2	3	5	3	3	3	3	0	1	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31010224C>A	ENST00000295055.8	-	2	145		c.e2-1		CAPN13_ENST00000534090.2_Splice_Site|CAPN13_ENST00000465960.2_Splice_Site	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13						proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					AGGTCCTTTCCTGTTGGTGAG	0.478													A	31010224	C	A	31010224	5	1	364	1	0	0	0	0	0	0	1	0	2652	695	24	4		4	CAPN13	2	31010224	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16987	31010224	212189149	1750	25252											
GALNT14	79623	broad.mit.edu	37	chr2	31133788	31133788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagctcaccatgtcccaGtgctggctcatgagtgagga	10	8	12	11	0	2	3	2	2	0	1	3	4	3	4	2	2	2	3	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31133788G>A	ENST00000349752.5	-	15	2277	c.1638C>T	c.(1636-1638)caC>caT	p.H546H	GALNT14_ENST00000420311.2_Silent_p.H511H|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Silent_p.H526H|GALNT14_ENST00000356174.3_Silent_p.H513H|GALNT14_ENST00000324589.5_Silent_p.H551H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	546	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCATGTCCCAGTGCTGGCTCA	0.572													A	31133788	G	A	31133788	2	1	364	1	0	0	0	0	0	0	0	1	6266	1020	36	2		2	GALNT14	2	31133788	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123564	31133788	212065585	1751	25253											
GALNT14	79623	broad.mit.edu	37	chr2	31135138	31135138	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaaccactggggcgccaGggaacaaggtgatgactgac	13	4	14	10	1	0	4	0	3	0	1	0	5	0	5	2	4	2	0	2	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31135138G>T	ENST00000349752.5	-	14	2090	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	GALNT14_ENST00000420311.2_Missense_Mutation_p.P449H|GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000406653.1_Missense_Mutation_p.P464H|GALNT14_ENST00000356174.3_Missense_Mutation_p.P451H|GALNT14_ENST00000324589.5_Missense_Mutation_p.P489H	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	484	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGCGCCAGGGAACAAGGT	0.552													T	31135138	G	T	31135138	3	4	364	1	0	0	0	0	1	0	0	0	6266	1000	35	4	215	4	GALNT14	2	31135138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1350	31135138	212064235	1752	25254											
GALNT14	79623	broad.mit.edu	37	chr2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccccgaatccgggacCggaccagacctgcagtcagg	9	3	13	16	4	1	1	1	0	0	1	2	4	2	3	6	3	2	1	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602													T	31178596	C	T	31178596	3	4	364	1	0	0	0	0	1	0	0	0	6266	652	23	1	1156	1	GALNT14	2	31178596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43458	31178596	212020777	1753	25255											
EHD3	30845	broad.mit.edu	37	chr2	31467293	31467293	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcaggaaactcaacgcCtttggcaacgccttcttgaa	10	10	7	14	2	3	1	2	1	1	0	3	2	3	2	3	2	3	1	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31467293C>A	ENST00000322054.5	+	2	666	c.381C>A	c.(379-381)gcC>gcA	p.A127A	EHD3_ENST00000541626.1_Silent_p.A127A	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	127					blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					AACTCAACGCCTTTGGCAACG	0.532													A	31467293	C	A	31467293	2	1	364	1	0	0	0	0	0	0	0	1	5018	668	24	4		4	EHD3	2	31467293	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	288697	31467293	211732080	1754	25256											
EHD3	30845	broad.mit.edu	37	chr2	31489453	31489453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaggatggcatgctggaCgacgacgagtttgcactggc	10	7	15	9	3	0	0	0	0	0	0	0	6	0	2	0	4	2	4	0	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31489453C>T	ENST00000322054.5	+	6	1776	c.1491C>T	c.(1489-1491)gaC>gaT	p.D497D	EHD3_ENST00000541626.1_3'UTR	NM_014600.2	NP_055415.1	Q9NZN3	EHD3_HUMAN	EH-domain containing 3	497	EF-hand.|EH.				blood coagulation|endocytic recycling|protein homooligomerization	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding|protein binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|skin(3)	33	Acute lymphoblastic leukemia(172;0.155)					GCATGCTGGACGACGACGAGT	0.602													T	31489453	C	T	31489453	2	4	364	1	0	0	0	0	0	0	0	1	5018	535	19	1		1	EHD3	2	31489453	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22160	31489453	211709920	1755	25257											
XDH	7498	broad.mit.edu	37	chr2	31565075	31565075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atctcctgttaggcagtcgaTttctacttcagagcaagcca	10	12	8	11	1	3	1	1	0	2	1	5	2	3	1	2	1	3	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31565075T>G	ENST00000379416.3	-	32	3541	c.3493A>C	c.(3493-3495)Atc>Ctc	p.I1165L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1165					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGGCAGTCGATTTCTACTTCA	0.448													G	31565075	T	G	31565075	3	3	364	1	0	0	0	0	1	0	0	0	17528	1493	52	5	528	5	XDH	2	31565075	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75622	31565075	211634298	1756	25258											
XDH	7498	broad.mit.edu	37	chr2	31591469	31591469	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccttgggcagctctctGtgtgtgttccggggtgtcag	3	12	14	12	1	2	0	1	0	1	0	4	0	3	0	3	3	1	3	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591469G>C	ENST00000379416.3	-	19	2086	c.2038C>G	c.(2038-2040)Cag>Gag	p.Q680E		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	680					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GCAGCTCTCTGTGTGTGTTCC	0.488													C	31591469	G	C	31591469	3	2	364	1	0	0	0	0	1	0	0	0	17528	1386	48	4	2035	4	XDH	2	31591469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26394	31591469	211607904	1757	25259											
XDH	7498	broad.mit.edu	37	chr2	31591522	31591522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgatatgcccaacacaaGtaacctagtagcagagacag	17	6	8	10	0	0	2	0	1	0	1	0	3	0	2	2	0	4	3	2	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31591522G>A	ENST00000379416.3	-	19	2033	c.1985C>T	c.(1984-1986)aCt>aTt	p.T662I		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	662					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CCCAACACAAGTAACCTAGTA	0.468													A	31591522	G	A	31591522	3	1	364	1	0	0	0	0	1	0	0	0	17528	1029	36	2	2088	2	XDH	2	31591522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53	31591522	211607851	1758	25260											
XDH	7498	broad.mit.edu	37	chr2	31602786	31602786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctcctccgggctcagcaGggtctttctgtagccaggga	6	11	12	12	1	4	0	1	0	3	0	6	1	5	1	3	3	2	3	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31602786G>T	ENST00000379416.3	-	13	1237	c.1189C>A	c.(1189-1191)Ctg>Atg	p.L397M		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	397	FAD-binding PCMH-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GGGCTCAGCAGGGTCTTTCTG	0.527													T	31602786	G	T	31602786	3	4	364	1	0	0	0	0	1	0	0	0	17528	991	35	4	2908	4	XDH	2	31602786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11264	31602786	211596587	1759	25261											
XDH	7498	broad.mit.edu	37	chr2	31637509	31637509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttctgccattcacaaaGaaaaccaatttgtctgctgt	12	13	5	11	0	3	1	1	0	2	1	3	1	3	1	3	0	3	1	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:31637509G>T	ENST00000379416.3	-	1	72	c.24C>A	c.(22-24)ttC>ttA	p.F8L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	8	2Fe-2S ferredoxin-type.				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	CATTCACAAAGAAAACCAATT	0.498													T	31637509	G	T	31637509	3	4	364	1	0	0	0	0	1	0	0	0	17528	933	33	4	4121	4	XDH	2	31637509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34723	31637509	211561864	1760	25262											
NLRC4	58484	broad.mit.edu	37	chr2	32449721	32449721	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcaaaaaacactaattGcttaagattctcaaatacac	20	10	3	8	0	2	1	2	0	1	1	3	1	2	1	0	0	3	1	0	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32449721G>A	ENST00000404025.2	-	10	3384	c.2896C>T	c.(2896-2898)Caa>Taa	p.Q966*	NLRC4_ENST00000402280.1_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000360906.5_Nonsense_Mutation_p.Q966*|NLRC4_ENST00000342905.6_Nonsense_Mutation_p.Q301*			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	966					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					AACACTAATTGCTTAAGATTC	0.383													A	32449721	G	A	32449721	4	1	364	1	0	0	0	0	0	1	0	0	10545	1328	46	2	182	2	NLRC4	2	32449721	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	812212	32449721	210749652	1761	25263											
NLRC4	58484	broad.mit.edu	37	chr2	32474692	32474692	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacccggcagccgttgattCtgtaggtcatgaatactcaa	11	11	9	10	2	3	2	2	2	1	0	3	2	3	2	2	2	3	3	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32474692C>T	ENST00000404025.2	-	5	2729	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	NLRC4_ENST00000402280.1_Silent_p.Q747Q|NLRC4_ENST00000360906.5_Silent_p.Q747Q|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	747					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GCCGTTGATTCTGTAGGTCAT	0.393													T	32474692	C	T	32474692	2	4	364	1	0	0	0	0	0	0	0	1	10545	912	32	2		2	NLRC4	2	32474692	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24971	32474692	210724681	1762	25264											
NLRC4	58484	broad.mit.edu	37	chr2	32475470	32475470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgtaccggagcaggctgCtataagtggatgtaatgtcc	10	10	14	7	1	0	0	0	0	0	0	1	2	1	2	2	4	3	5	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32475470C>T	ENST00000404025.2	-	5	1951	c.1463G>A	c.(1462-1464)aGc>aAc	p.S488N	NLRC4_ENST00000402280.1_Missense_Mutation_p.S488N|NLRC4_ENST00000360906.5_Missense_Mutation_p.S488N|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	488					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GAGCAGGCTGCTATAAGTGGA	0.512													T	32475470	C	T	32475470	3	4	364	1	0	0	0	0	1	0	0	0	10545	797	28	2	1635	2	NLRC4	2	32475470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	778	32475470	210723903	1763	25265											
YIPF4	84272	broad.mit.edu	37	chr2	32526473	32526473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcatatggccaagtccttgGagttataggatattcattac	11	14	9	7	0	1	0	1	0	0	0	2	2	2	2	2	3	2	2	2	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32526473G>A	ENST00000238831.4	+	5	752	c.506G>A	c.(505-507)gGa>gAa	p.G169E		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					CAAGTCCTTGGAGTTATAGGA	0.308													A	32526473	G	A	32526473	3	1	364	1	0	0	0	0	1	0	0	0	17582	1174	41	2	524	2	YIPF4	2	32526473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51003	32526473	210672900	1764	25266											
YIPF4	84272	broad.mit.edu	37	chr2	32530576	32530576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgtttggtgtgttttggGctgcctacagtgctgcttca	4	16	13	8	0	1	0	1	0	0	0	1	0	1	0	1	2	5	6	1	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32530576G>A	ENST00000238831.4	+	6	862	c.616G>A	c.(616-618)Gct>Act	p.A206T		NM_032312.3	NP_115688.1	Q9BSR8	YIPF4_HUMAN	Yip1 domain family, member 4							endoplasmic reticulum|integral to membrane	protein binding			kidney(2)|lung(3)|prostate(3)|skin(1)	9	Acute lymphoblastic leukemia(172;0.155)					TGTGTTTTGGGCTGCCTACAG	0.328													A	32530576	G	A	32530576	3	1	364	1	0	0	0	0	1	0	0	0	17582	1203	42	2	638	2	YIPF4	2	32530576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4103	32530576	210668797	1765	25267											
BIRC6	57448	broad.mit.edu	37	chr2	32613827	32613827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttcagtgggccacaGttacatttcatcttcctcat	7	18	5	11	0	5	0	3	0	2	0	6	0	6	0	2	1	1	1	2	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32613827G>T	ENST00000421745.2	+	4	789	c.655G>T	c.(655-657)Gtt>Ttt	p.V219F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	219					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GTGGGCCACAGTTACATTTCA	0.358													T	32613827	G	T	32613827	3	4	364	1	0	0	0	0	1	0	0	0	1444	1029	36	4	669	4	BIRC6	2	32613827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83251	32613827	210585546	1766	25268											
BIRC6	57448	broad.mit.edu	37	chr2	32688447	32688447	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttttgaagcttcagcaaCaggttggagactatttggct	10	13	11	7	0	1	2	1	1	0	1	1	3	1	2	0	3	4	5	0	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32688447C>T	ENST00000421745.2	+	24	5073	c.4939C>T	c.(4939-4941)Cag>Tag	p.Q1647*		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1647					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					GCTTCAGCAACAGGTTGGAGA	0.423													T	32688447	C	T	32688447	4	4	364	1	0	0	0	0	0	1	0	0	1444	479	17	2	5033	2	BIRC6	2	32688447	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74620	32688447	210510926	1767	25269											
BIRC6	57448	broad.mit.edu	37	chr2	32702460	32702460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaggatttaattcgtttaCgtcggacagcagaatggtcc	11	13	10	7	3	0	1	0	0	0	1	3	3	1	3	1	3	2	2	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32702460C>T	ENST00000421745.2	+	35	7011	c.6877C>T	c.(6877-6879)Cgt>Tgt	p.R2293C		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2293					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					AATTCGTTTACGTCGGACAGC	0.338													T	32702460	C	T	32702460	3	4	364	1	0	0	0	0	1	0	0	0	1444	536	19	1	7015	1	BIRC6	2	32702460	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14013	32702460	210496913	1768	25270											
BIRC6	57448	broad.mit.edu	37	chr2	32735686	32735686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaacaactcaggatcCtggtacaaaagacaggtacg	14	7	11	9	1	1	1	1	0	0	1	2	3	2	3	1	4	4	3	1	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32735686C>A	ENST00000421745.2	+	53	10465	c.10331C>A	c.(10330-10332)cCt>cAt	p.P3444H		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3444					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACTCAGGATCCTGGTACAAAA	0.338													A	32735686	C	A	32735686	3	1	364	1	0	0	0	0	1	0	0	0	1444	681	24	4	10541	4	BIRC6	2	32735686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33226	32735686	210463687	1769	25271											
BIRC6	57448	broad.mit.edu	37	chr2	32740275	32740275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatctttaacagatgactCtaaaaatgcacaagcacctc	15	11	4	11	0	3	2	1	1	2	1	4	2	3	2	1	0	3	2	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:32740275C>T	ENST00000421745.2	+	55	10921	c.10787C>T	c.(10786-10788)tCt>tTt	p.S3596F		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	3596					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ACAGATGACTCTAAAAATGCA	0.408													T	32740275	C	T	32740275	3	4	364	1	0	0	0	0	1	0	0	0	1444	913	32	2	11005	2	BIRC6	2	32740275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4589	32740275	210459098	1770	25272											
TTC27	55622	broad.mit.edu	37	chr2	33012102	33012102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagtgtaactatgaacaCtggcagatttgggaaaacta	15	10	9	7	0	1	2	1	1	0	1	1	3	1	3	0	2	3	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33012102C>T	ENST00000317907.4	+	16	2115	c.1884C>T	c.(1882-1884)caC>caT	p.H628H		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	628							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						ACTATGAACACTGGCAGATTT	0.368													T	33012102	C	T	33012102	2	4	364	1	0	0	0	0	0	0	0	1	16797	564	20	2		2	TTC27	2	33012102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271827	33012102	210187271	1771	25273											
LTBP1	4052	broad.mit.edu	37	chr2	33468843	33468843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccggatcctaccttttcaaGttgtgttcgtaagtaataat	10	15	8	8	2	1	0	1	0	0	0	3	1	2	1	3	1	1	4	3	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33468843G>T	ENST00000404816.2	+	10	2344	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I	LTBP1_ENST00000407925.1_Missense_Mutation_p.S338I|LTBP1_ENST00000404525.1_Missense_Mutation_p.S338I|LTBP1_ENST00000390003.4_Missense_Mutation_p.S338I|LTBP1_ENST00000418533.2_Missense_Mutation_p.S338I|LTBP1_ENST00000402934.1_Missense_Mutation_p.S338I|LTBP1_ENST00000354476.3_Missense_Mutation_p.S664I			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	664					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCTTTTCAAGTTGTGTTCGT	0.408													T	33468843	G	T	33468843	3	4	364	1	0	0	0	0	1	0	0	0	9143	1029	36	4	2084	4	LTBP1	2	33468843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	456741	33468843	209730530	1772	25274											
LTBP1	4052	broad.mit.edu	37	chr2	33518329	33518329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggctatacccggactcCggaccacaagcactgtagag	13	5	10	13	2	0	1	0	0	0	1	1	3	1	3	3	3	2	3	3	3	5	3	rs150123521		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33518329C>T	ENST00000404816.2	+	20	3568	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	LTBP1_ENST00000407925.1_Missense_Mutation_p.P746L|LTBP1_ENST00000404525.1_Missense_Mutation_p.P693L|LTBP1_ENST00000390003.4_Missense_Mutation_p.P747L|LTBP1_ENST00000418533.2_Missense_Mutation_p.P746L|LTBP1_ENST00000402934.1_Missense_Mutation_p.P693L|LTBP1_ENST00000272273.5_Missense_Mutation_p.P12L|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000354476.3_Missense_Mutation_p.P1073L			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1072	EGF-like 8; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				ACCCGGACTCCGGACCACAAG	0.428													T	33518329	C	T	33518329	3	4	364	1	0	0	0	0	1	0	0	0	9143	652	23	1	3348	1	LTBP1	2	33518329	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49486	33518329	209681044	1773	25275											
LTBP1	4052	broad.mit.edu	37	chr2	33568012	33568012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agggctttcaagccccacagGatgggcaagggtgtgtgggt	8	8	17	8	0	1	0	1	0	0	0	1	1	1	1	2	5	1	2	2	5	2	1	rs140281612	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33568012G>A	ENST00000404816.2	+	25	4191	c.3838G>A	c.(3838-3840)Gat>Aat	p.D1280N	LTBP1_ENST00000407925.1_Missense_Mutation_p.D954N|LTBP1_ENST00000404525.1_Missense_Mutation_p.D901N|LTBP1_ENST00000390003.4_Missense_Mutation_p.D955N|LTBP1_ENST00000418533.2_Intron|LTBP1_ENST00000402934.1_Missense_Mutation_p.D901N|LTBP1_ENST00000272273.5_Intron|LTBP1_ENST00000354476.3_Missense_Mutation_p.D1281N			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1280	EGF-like 13; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AGCCCCACAGGATGGGCAAGG	0.463													A	33568012	G	A	33568012	3	1	364	1	0	0	0	0	1	0	0	0	9143	1174	41	2	3991	2	LTBP1	2	33568012	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49683	33568012	209631361	1774	25276											
LTBP1	4052	broad.mit.edu	37	chr2	33590519	33590519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactgagtgctgctgtctgTatggagaggcctggggcatg	7	10	16	8	0	1	2	0	1	1	1	1	3	1	2	1	4	2	4	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33590519T>C	ENST00000404816.2	+	31	5013	c.4660T>C	c.(4660-4662)Tat>Cat	p.Y1554H	LTBP1_ENST00000407925.1_Missense_Mutation_p.Y1228H|LTBP1_ENST00000404525.1_Missense_Mutation_p.Y1175H|LTBP1_ENST00000390003.4_Missense_Mutation_p.Y1229H|LTBP1_ENST00000418533.2_Missense_Mutation_p.Y1186H|LTBP1_ENST00000402934.1_Missense_Mutation_p.Y1173H|LTBP1_ENST00000272273.5_Missense_Mutation_p.Y452H|LTBP1_ENST00000354476.3_Missense_Mutation_p.Y1555H			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1554	TB 4.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CTGCTGTCTGTATGGAGAGGC	0.542													C	33590519	T	C	33590519	3	2	364	1	0	0	0	0	1	0	0	0	9143	1638	57	3	4837	3	LTBP1	2	33590519	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22507	33590519	209608854	1775	25277											
LTBP1	4052	broad.mit.edu	37	chr2	33623537	33623537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtctgccaggctacgtGccttctgacaagccaaacta	9	11	9	12	1	2	1	0	1	2	0	2	1	2	1	3	1	5	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33623537G>A	ENST00000404816.2	+	34	5444	c.5091G>A	c.(5089-5091)gtG>gtA	p.V1697V	LTBP1_ENST00000407925.1_Silent_p.V1371V|LTBP1_ENST00000404525.1_Silent_p.V1318V|LTBP1_ENST00000390003.4_Silent_p.V1372V|LTBP1_ENST00000418533.2_Silent_p.V1329V|LTBP1_ENST00000402934.1_Silent_p.V1316V|LTBP1_ENST00000272273.5_Silent_p.V595V|LTBP1_ENST00000354476.3_Silent_p.V1698V			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1697	EGF-like 18; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				CAGGCTACGTGCCTTCTGACA	0.463													A	33623537	G	A	33623537	2	1	364	1	0	0	0	0	0	0	0	1	9143	1306	46	2		2	LTBP1	2	33623537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33018	33623537	209575836	1776	25278											
RASGRP3	25780	broad.mit.edu	37	chr2	33747045	33747045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctatgactggatgagaaGagtcacacagaggaaaaaag	17	7	11	6	0	1	4	1	2	0	3	2	7	2	6	1	2	0	0	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33747045G>T	ENST00000403687.3	+	7	1132	c.392G>T	c.(391-393)aGa>aTa	p.R131I	RASGRP3_ENST00000402538.3_Missense_Mutation_p.R131I|RASGRP3_ENST00000407811.1_Missense_Mutation_p.R131I	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	131					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity	p.R131K(1)		large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGGATGAGAAGAGTCACACAG	0.438													T	33747045	G	T	33747045	3	4	364	1	0	0	0	0	1	0	0	0	13164	942	33	4	410	4	RASGRP3	2	33747045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123508	33747045	209452328	1777	25279											
FAM98A	25940	broad.mit.edu	37	chr2	33810031	33810031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccacgaccaccaccacGatcaccatggtgcccgccat	10	4	6	21	3	1	0	1	0	0	0	1	2	1	0	8	1	1	0	8	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33810031G>A	ENST00000238823.8	-	8	1509	c.1369C>T	c.(1369-1371)Cgt>Tgt	p.R457C	FAM98A_ENST00000403368.1_3'UTR|FAM98A_ENST00000441530.2_Missense_Mutation_p.R262C			Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	458	Gly-rich.									NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ccaccaccacgatcaccaTGG	0.582													A	33810031	G	A	33810031	3	1	364	1	0	0	0	0	1	0	0	0	5705	1058	37	1	191	1	FAM98A	2	33810031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62986	33810031	209389342	1778	25280											
FAM98A	25940	broad.mit.edu	37	chr2	33813498	33813498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcctttcaactcttgaaaGacctcactaccgcctccttc	9	12	4	16	1	3	2	2	1	1	1	5	2	4	2	5	0	3	0	5	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:33813498G>A	ENST00000403368.1	-	4	495	c.426C>T	c.(424-426)gtC>gtT	p.V142V	FAM98A_ENST00000238823.8_Silent_p.V142V|FAM98A_ENST00000498340.1_Intron|FAM98A_ENST00000441530.2_Intron	NM_015475.3	NP_056290.3	Q8NCA5	FA98A_HUMAN	family with sequence similarity 98, member A	142										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(1)	24	all_hematologic(175;0.115)					ACTCTTGAAAGACCTCACTAC	0.413													A	33813498	G	A	33813498	2	1	364	1	0	0	0	0	0	0	0	1	5705	929	33	2		2	FAM98A	2	33813498	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3467	33813498	209385875	1779	25281											
CRIM1	51232	broad.mit.edu	37	chr2	36749446	36749446	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaggccagtgttgtccCtactgcataggtaagaccaa	14	8	10	9	0	0	2	0	0	0	2	1	2	1	2	3	2	2	3	3	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36749446C>A	ENST00000280527.2	+	13	2785	c.2418C>A	c.(2416-2418)ccC>ccA	p.P806P		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	806	VWFC 5.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				AGTGTTGTCCCTACTGCATAG	0.413													A	36749446	C	A	36749446	2	1	364	1	0	0	0	0	0	0	0	1	3904	668	24	4		4	CRIM1	2	36749446	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2935948	36749446	206449927	1780	25282											
VIT	5212	broad.mit.edu	37	chr2	36986260	36986260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacgtgttttgggagatagCggagaaattaacatcttaac	13	11	11	6	3	1	2	0	0	1	2	1	5	1	2	0	2	3	1	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:36986260C>T	ENST00000457137.2	+	6	786	c.558C>T	c.(556-558)agC>agT	p.S186S	VIT_ENST00000401530.1_Intron|VIT_ENST00000404084.1_Intron|VIT_ENST00000379241.3_Intron|VIT_ENST00000379242.3_Intron|VIT_ENST00000497382.1_Intron|VIT_ENST00000389975.3_Intron	NM_001177972.1	NP_001171443.1	Q6UXI7	VITRN_HUMAN	vitrin	0						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGGGAGATAGCGGAGAAATTA	0.468													T	36986260	C	T	36986260	2	4	364	1	0	0	0	0	0	0	0	1	17273	767	27	1		1	VIT	2	36986260	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236814	36986260	206213113	1781	25283											
VIT	5212	broad.mit.edu	37	chr2	37035650	37035650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacggcttctactcgctccaCgtgcagagctggtttggcct	6	11	11	13	3	1	1	0	0	1	1	3	1	2	1	2	3	4	5	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37035650C>T	ENST00000379242.3	+	15	1727	c.1425C>T	c.(1423-1425)caC>caT	p.H475H	VIT_ENST00000401530.1_Silent_p.H439H|VIT_ENST00000404084.1_Silent_p.H412H|VIT_ENST00000379241.3_Silent_p.H438H|VIT_ENST00000497382.1_Silent_p.H129H|VIT_ENST00000389975.3_Silent_p.H460H	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	460	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				ACTCGCTCCACGTGCAGAGCT	0.607													T	37035650	C	T	37035650	2	4	364	1	0	0	0	0	0	0	0	1	17273	535	19	1		1	VIT	2	37035650	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49390	37035650	206163723	1782	25284											
VIT	5212	broad.mit.edu	37	chr2	37041325	37041325	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctaacctttgtccccacaGgagtgatcacctatgcgata	11	11	7	12	1	2	1	1	1	1	0	3	3	3	2	4	1	2	0	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37041325G>T	ENST00000379242.3	+	16	2205		c.e16-1		VIT_ENST00000401530.1_Splice_Site|VIT_ENST00000404084.1_Splice_Site|VIT_ENST00000379241.3_Splice_Site|VIT_ENST00000497382.1_Splice_Site|VIT_ENST00000389975.3_Splice_Site	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin							proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGTCCCCACAGGAGTGATCAC	0.512													T	37041325	G	T	37041325	5	4	364	1	0	0	0	0	0	0	1	0	17273	1014	35	4	2086	4	VIT	2	37041325	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5675	37041325	206158048	1783	25285											
STRN	6801	broad.mit.edu	37	chr2	37152312	37152312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagatccttcttcaaattttCttggcccttcctttctccct	6	18	3	14	0	4	1	1	0	3	1	7	1	6	1	4	1	0	0	4	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37152312C>T	ENST00000263918.4	-	2	282	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	STRN_ENST00000379213.2_Missense_Mutation_p.E80K	NM_003162.3	NP_003153.2	O43815	STRN_HUMAN	striatin, calmodulin binding protein	92					dendrite development|locomotory behavior|negative regulation of cell proliferation|tight junction assembly|Wnt receptor signaling pathway	cytoplasm|dendritic spine|neuronal cell body|postsynaptic density|postsynaptic membrane|tight junction	armadillo repeat domain binding|calmodulin binding|estrogen receptor binding|protein complex binding|protein phosphatase 2A binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33		Ovarian(717;0.0129)|all_hematologic(82;0.21)				TTCAAATTTTCTTGGCCCTTC	0.373													T	37152312	C	T	37152312	3	4	364	1	0	0	0	0	1	0	0	0	15425	922	32	2	2136	2	STRN	2	37152312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110987	37152312	206047061	1784	25286											
HEATR5B	54497	broad.mit.edu	37	chr2	37285656	37285656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttaaacggaccattgcaGcactagctttcagatgagct	11	11	9	10	1	2	2	1	1	1	1	2	3	2	3	1	1	5	4	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37285656G>T	ENST00000233099.5	-	14	2092	c.1997C>A	c.(1996-1998)gCt>gAt	p.A666D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A666D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	666							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GACCATTGCAGCACTAGCTTT	0.323													T	37285656	G	T	37285656	3	4	364	1	0	0	0	0	1	0	0	0	7087	971	34	4	4310	4	HEATR5B	2	37285656	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133344	37285656	205913717	1785	25287											
HEATR5B	54497	broad.mit.edu	37	chr2	37297432	37297432	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacttttaacatttctcCaccgctctttaagaaacctg	11	14	3	13	1	2	1	0	0	2	1	4	1	3	1	4	0	3	1	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297432C>A	ENST00000233099.5	-	7	963	c.868G>T	c.(868-870)Gga>Tga	p.G290*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G290*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	290							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACATTTCTCCACCGCTCTTT	0.453													A	37297432	C	A	37297432	4	1	364	1	0	0	0	0	0	1	0	0	7087	603	21	4	5467	4	HEATR5B	2	37297432	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11776	37297432	205901941	1786	25288											
HEATR5B	54497	broad.mit.edu	37	chr2	37297471	37297471	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctccacgcagaaatcCtgtggccatgagttctaaga	11	9	9	12	1	1	4	0	2	1	2	3	4	3	4	4	1	0	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37297471C>A	ENST00000233099.5	-	7	924	c.829G>T	c.(829-831)Gga>Tga	p.G277*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.G277*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	277							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CGCAGAAATCCTGTGGCCATG	0.403													A	37297471	C	A	37297471	4	1	364	1	0	0	0	0	0	1	0	0	7087	690	24	4	5506	4	HEATR5B	2	37297471	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	37297471	205901902	1787	25289											
HEATR5B	54497	broad.mit.edu	37	chr2	37302635	37302635	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgagtactaaccttggccActgcacatcgaacagccatt	11	9	8	13	2	0	0	0	0	0	0	2	2	0	0	3	1	5	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37302635A>G	ENST00000233099.5	-	5	685	c.590T>C	c.(589-591)gTg>gCg	p.V197A	HEATR5B_ENST00000354531.2_Missense_Mutation_p.V197A	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	197							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AACCTTGGCCACTGCACATCG	0.398													G	37302635	A	G	37302635	3	3	364	1	0	0	0	0	1	0	0	0	7087	159	6	3	5753	3	HEATR5B	2	37302635	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5164	37302635	205896738	1788	25290											
SULT6B1	391365	broad.mit.edu	37	chr2	37414560	37414560	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatatttatactttttttTagaaacagcatatattaatt	14	20	4	3	0	0	1	0	0	0	1	0	2	0	2	0	1	3	1	0	1	8	12			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37414560T>A	ENST00000535679.1	-	2	249	c.250A>T	c.(250-252)Aaa>Taa	p.K84*	SULT6B1_ENST00000379149.2_Nonsense_Mutation_p.K84*|SULT6B1_ENST00000407963.1_Nonsense_Mutation_p.K46*|SULT6B1_ENST00000260637.3_Nonsense_Mutation_p.K46*			Q6IMI4	ST6B1_HUMAN	sulfotransferase family, cytosolic, 6B, member 1	84						cytoplasm	sulfotransferase activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(1)	12		all_hematologic(82;0.248)				TACTTTTTTTTAGAAACAGCA	0.323													A	37414560	T	A	37414560	4	1	364	1	0	0	0	0	0	1	0	0	15480	1763	61	5	685	5	SULT6B1	2	37414560	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	111925	37414560	205784813	1789	25291											
CEBPZ	10153	broad.mit.edu	37	chr2	37450453	37450453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaaagccttcacccggcGcaacacaatgtcagctttca	13	7	6	15	2	3	0	3	0	0	0	3	0	3	0	2	1	3	2	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37450453G>A	ENST00000234170.5	-	3	1886	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	581					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TTCACCCGGCGCAACACAATG	0.418													A	37450453	G	A	37450453	3	1	364	1	0	0	0	0	1	0	0	0	3234	1087	38	1	1479	1	CEBPZ	2	37450453	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35893	37450453	205748920	1790	25292											
CEBPZ	10153	broad.mit.edu	37	chr2	37454686	37454686	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attggaagggtatgttcttaCctgtataatgctgtgtaata	11	16	10	4	0	1	0	0	0	1	0	1	1	1	1	1	2	2	5	1	2	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37454686C>T	ENST00000234170.5	-	2	1795		c.e2+1			NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta						regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TATGTTCTTACCTGTATAATG	0.363													T	37454686	C	T	37454686	5	4	364	1	0	0	0	0	0	0	1	0	3234	521	18	2	1574	2	CEBPZ	2	37454686	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4233	37454686	205744687	1791	25293											
QPCT	25797	broad.mit.edu	37	chr2	37586802	37586802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgagtcagacaccctatgGgtaccggtctttctcaaata	10	12	8	11	1	3	2	2	1	2	1	4	2	3	2	2	2	1	1	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37586802G>T	ENST00000338415.3	+	3	505	c.347G>T	c.(346-348)gGg>gTg	p.G116V	QPCT_ENST00000537448.1_Missense_Mutation_p.G67V	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	116					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				ACACCCTATGGGTACCGGTCT	0.463													T	37586802	G	T	37586802	3	4	364	1	0	0	0	0	1	0	0	0	12962	1232	43	4	357	4	QPCT	2	37586802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132116	37586802	205612571	1792	25294											
QPCT	25797	broad.mit.edu	37	chr2	37594504	37594504	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcaaagatggcatcgAccccgcacccacctggagcg	10	5	11	15	3	0	1	0	0	0	1	1	3	0	2	4	2	3	4	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:37594504A>G	ENST00000338415.3	+	4	834	c.676A>G	c.(676-678)Acc>Gcc	p.T226A	QPCT_ENST00000537448.1_Missense_Mutation_p.T177A	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	226					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				GATGGCATCGACCCCGCACCC	0.532													G	37594504	A	G	37594504	3	3	364	1	0	0	0	0	1	0	0	0	12962	275	10	3	690	3	QPCT	2	37594504	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7702	37594504	205604869	1793	25295											
CYP1B1	1545	broad.mit.edu	37	chr2	38301921	38301921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaacacacggcactcatgAcgttggccacggccacgacg	11	4	11	15	6	1	1	1	1	0	0	1	3	1	1	2	3	1	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38301921A>G	ENST00000260630.3	-	2	1012	c.611T>C	c.(610-612)gTc>gCc	p.V204A	CYP1B1_ENST00000494864.1_Intron|CYP1B1_ENST00000407341.1_Missense_Mutation_p.V204A	NM_000104.3	NP_000095	Q16678	CP1B1_HUMAN	cytochrome P450, family 1, subfamily B, polypeptide 1	204					visual perception|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	13		all_hematologic(82;0.21)			Estrone(DB00655)	GGCACTCATGACGTTGGCCAC	0.711													G	38301921	A	G	38301921	3	3	364	1	0	0	0	0	1	0	0	0	4184	275	10	3	1028	3	CYP1B1	2	38301921	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	707417	38301921	204897452	1794	25296											
GALM	130589	broad.mit.edu	37	chr2	38960630	38960630	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgttgtttccccttcacagCcccgcttccctcctgtgctg	2	14	8	17	1	1	0	1	0	0	0	4	0	4	0	6	0	2	4	6	0	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:38960630C>T	ENST00000272252.5	+	7	1204	c.952C>T	c.(952-954)Ccc>Tcc	p.P318S	GALM_ENST00000410063.1_Splice_Site_p.P170S	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	318					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCCTTCACAGCCCCGCTTCCC	0.532													T	38960630	C	T	38960630	5	4	364	1	0	0	0	0	0	0	1	0	6259	753	26	2	978	2	GALM	2	38960630	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	658709	38960630	204238743	1795	25297											
DHX57	90957	broad.mit.edu	37	chr2	39053084	39053084	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctagtgaataaatggaaGcagaccccagatgcaacacg	15	6	11	9	1	0	3	0	1	0	2	0	4	0	4	2	2	3	3	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39053084G>A	ENST00000295373.6	-	16	3045	c.2919C>T	c.(2917-2919)tgC>tgT	p.C973C		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	973	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				ATAAATGGAAGCAGACCCCAG	0.458													A	39053084	G	A	39053084	2	1	364	1	0	0	0	0	0	0	0	1	4552	963	34	2		2	DHX57	2	39053084	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92454	39053084	204146289	1796	25298											
SOS1	6654	broad.mit.edu	37	chr2	39224152	39224152	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccttctccatgctatttcCcatcggattcaagttttcaa	8	17	4	12	1	3	0	2	0	1	0	7	1	5	1	3	1	1	2	3	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39224152C>A	ENST00000426016.1	-	20	3078	c.2992G>T	c.(2992-2994)Gga>Tga	p.G998*	SOS1_ENST00000395038.2_Nonsense_Mutation_p.G998*|SOS1_ENST00000402219.2_Nonsense_Mutation_p.G998*			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	998	Ras-GEF.				apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ATGCTATTTCCCATCGGATTC	0.299									Noonan syndrome				A	39224152	C	A	39224152	4	1	364	1	0	0	0	0	0	1	0	0	15030	632	22	4	1029	4	SOS1	2	39224152	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171068	39224152	203975221	1797	25299											
SOS1	6654	broad.mit.edu	37	chr2	39239384	39239384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgccactcaactgtgggaGgtgaactctgaaatgtaata	13	11	10	7	0	2	2	1	2	1	0	2	3	2	3	1	2	3	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39239384G>T	ENST00000426016.1	-	15	2359	c.2273C>A	c.(2272-2274)cCt>cAt	p.P758H	SOS1_ENST00000395038.2_Missense_Mutation_p.P758H|SOS1_ENST00000402219.2_Missense_Mutation_p.P758H			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	758					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				AACTGTGGGAGGTGAACTCTG	0.393									Noonan syndrome				T	39239384	G	T	39239384	3	4	364	1	0	0	0	0	1	0	0	0	15030	1000	35	4	1768	4	SOS1	2	39239384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15232	39239384	203959989	1798	25300											
CDKL4	344387	broad.mit.edu	37	chr2	39406359	39406359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgtttcttccttcattaCgtgcttttcttttaatttgg	4	24	5	8	1	4	0	1	0	3	0	5	0	5	0	1	1	2	2	1	1	2	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39406359C>T	ENST00000378803.1	-	8	895	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CDKL4_ENST00000395035.3_Missense_Mutation_p.R299H	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	299						cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TCCTTCATTACGTGCTTTTCT	0.378													T	39406359	C	T	39406359	3	4	364	1	0	0	0	0	1	0	0	0	3186	536	19	1	55	1	CDKL4	2	39406359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166975	39406359	203793014	1799	25301											
CDKL4	344387	broad.mit.edu	37	chr2	39440541	39440541	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattagaaaatgttacttacGttatgtatatgacagaaatt	16	15	6	4	1	0	3	0	1	0	2	0	3	0	3	0	0	2	3	0	0	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440541G>A	ENST00000378803.1	-	3	362	c.363C>T	c.(361-363)aaC>aaT	p.N121N	CDKL4_ENST00000395035.3_Splice_Site_p.N121N	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	121	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				TGTTACTTACGTTATGTATAT	0.328													A	39440541	G	A	39440541	5	1	364	1	0	0	0	0	0	0	1	0	3186	1159	40	1	608	1	CDKL4	2	39440541	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34182	39440541	203758832	1800	25302											
CDKL4	344387	broad.mit.edu	37	chr2	39440589	39440589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtgtttgccataatacGcttttgatcactccatcagc	10	14	7	10	1	2	2	2	2	0	0	3	2	3	2	2	0	3	2	2	0	3	5	rs140286102		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39440589G>A	ENST00000378803.1	-	3	314	c.315C>T	c.(313-315)agC>agT	p.S105S	CDKL4_ENST00000395035.3_Silent_p.S105S	NM_001009565.1	NP_001009565.1	Q5MAI5	CDKL4_HUMAN	cyclin-dependent kinase-like 4	105	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|large_intestine(2)|liver(1)|lung(7)|ovary(1)	12		all_hematologic(82;0.248)				GCCATAATACGCTTTTGATCA	0.343													A	39440589	G	A	39440589	2	1	364	1	0	0	0	0	0	0	0	1	3186	1078	38	1		1	CDKL4	2	39440589	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48	39440589	203758784	1801	25303											
MAP4K3	8491	broad.mit.edu	37	chr2	39477781	39477781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaactgttttcatgacccGccaggatgtacaaattgcta	12	12	8	9	1	1	1	1	1	0	0	1	2	1	2	2	1	3	4	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39477781G>A	ENST00000263881.3	-	34	2987	c.2663C>T	c.(2662-2664)gCg>gTg	p.A888V	MAP4K3_ENST00000341681.5_Missense_Mutation_p.A867V|MAP4K3_ENST00000536018.1_Missense_Mutation_p.A441V|MAP4K3_ENST00000437545.1_Missense_Mutation_p.A804V	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	888					JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				TTCATGACCCGCCAGGATGTA	0.378													A	39477781	G	A	39477781	3	1	364	1	0	0	0	0	1	0	0	0	9336	1087	38	1	25	1	MAP4K3	2	39477781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37192	39477781	203721592	1802	25304											
MAP4K3	8491	broad.mit.edu	37	chr2	39499678	39499678	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccatgtacaccttcgaggGaatagctgattaaaaaaagg	17	8	9	7	1	0	1	0	1	0	0	1	3	0	2	2	2	3	2	2	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:39499678G>A	ENST00000263881.3	-	25	2124	c.1800C>T	c.(1798-1800)ttC>ttT	p.F600F	MAP4K3_ENST00000341681.5_Silent_p.F579F|MAP4K3_ENST00000536018.1_Silent_p.F153F|MAP4K3_ENST00000437545.1_Silent_p.F516F	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	600	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				ACCTTCGAGGGAATAGCTGAT	0.303													A	39499678	G	A	39499678	2	1	364	1	0	0	0	0	0	0	0	1	9336	1165	41	2		2	MAP4K3	2	39499678	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21897	39499678	203699695	1803	25305											
SLC8A1	6546	broad.mit.edu	37	chr2	40342396	40342396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatatctgatagttcctttaGaagccttttatgtggcagta	10	17	8	6	0	1	2	0	1	1	1	2	2	2	2	2	1	1	3	2	1	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40342396G>A	ENST00000406785.2	-	8	3000	c.2811C>T	c.(2809-2811)ttC>ttT	p.F937F	SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1_ENST00000542024.1_Silent_p.F937F|SLC8A1_ENST00000332839.4_Silent_p.F973F|SLC8A1_ENST00000406391.2_Silent_p.F937F|SLC8A1_ENST00000402441.1_Silent_p.F937F|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000403092.1_Silent_p.F973F|SLC8A1_ENST00000405269.1_Silent_p.F937F|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000405901.3_Silent_p.F968F|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000542756.1_Silent_p.F968F|SLC8A1_ENST00000408028.2_Silent_p.F965F			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	AGTTCCTTTAGAAGCCTTTTA	0.383													A	40342396	G	A	40342396	2	1	364	1	0	0	0	0	0	0	0	1	14800	933	33	2		2	SLC8A1	2	40342396	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	842718	40342396	202856977	1804	25306											
SLC8A1	6546	broad.mit.edu	37	chr2	40656468	40656468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctagcttcttcatcaTcttggtccctctcatccacc	5	14	4	18	1	5	0	3	0	3	0	9	0	7	0	4	1	1	1	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:40656468T>C	ENST00000406785.2	-	2	1142	c.953A>G	c.(952-954)gAt>gGt	p.D318G	SLC8A1_ENST00000542024.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000332839.4_Missense_Mutation_p.D318G|SLC8A1_ENST00000406391.2_Missense_Mutation_p.D318G|SLC8A1_ENST00000402441.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000403092.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000405269.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000405901.3_Missense_Mutation_p.D318G|SLC8A1_ENST00000542756.1_Missense_Mutation_p.D318G|SLC8A1_ENST00000408028.2_Missense_Mutation_p.D318G			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTCTTCATCATCTTGGTCCCT	0.398													C	40656468	T	C	40656468	3	2	364	1	0	0	0	0	1	0	0	0	14800	1435	50	3	2116	3	SLC8A1	2	40656468	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	314072	40656468	202542905	1805	25307											
MTA3	57504	broad.mit.edu	37	chr2	42871382	42871382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccagaaatgctgttagAaggtacgtttttctgcgtgt	9	15	10	7	2	1	2	0	0	1	2	2	2	2	2	1	1	3	4	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42871382A>G	ENST00000405592.1	+	7	999	c.329A>G	c.(328-330)gAa>gGa	p.E110G	MTA3_ENST00000406652.1_Missense_Mutation_p.E110G|MTA3_ENST00000406911.1_Missense_Mutation_p.E166G|MTA3_ENST00000405094.1_Missense_Mutation_p.E166G|MTA3_ENST00000407270.3_Missense_Mutation_p.E166G	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	166	BAH.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						ATGCTGTTAGAAGGTACGTTT	0.388													G	42871382	A	G	42871382	3	3	364	1	0	0	0	0	1	0	0	0	9986	246	9	3	519	3	MTA3	2	42871382	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2214914	42871382	200327991	1806	25308											
MTA3	57504	broad.mit.edu	37	chr2	42936207	42936207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagacggccgtttgttgCtattaattatgctgccatta	10	14	9	8	2	0	1	0	0	0	1	0	1	0	1	2	1	4	5	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42936207C>A	ENST00000405592.1	+	15	1995	c.1325C>A	c.(1324-1326)gCt>gAt	p.A442D	MTA3_ENST00000406652.1_Missense_Mutation_p.A442D|MTA3_ENST00000406911.1_Missense_Mutation_p.A498D|MTA3_ENST00000472767.1_3'UTR|MTA3_ENST00000405094.1_Missense_Mutation_p.A499D|MTA3_ENST00000407270.3_Missense_Mutation_p.A499D	NM_001282755.1	NP_001269684.1	Q9BTC8	MTA3_HUMAN	metastasis associated 1 family, member 3	499						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(9)|ovary(2)|stomach(1)	15						CCGTTTGTTGCTATTAATTAT	0.408													A	42936207	C	A	42936207	3	1	364	1	0	0	0	0	1	0	0	0	9986	797	28	4	1550	4	MTA3	2	42936207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64825	42936207	200263166	1807	25309											
OXER1	165140	broad.mit.edu	37	chr2	42991053	42991053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggaaggcagacaccagCgaggaagaggtggggtggca	12	2	19	8	1	0	2	0	0	0	2	0	5	0	4	2	7	1	2	2	7	2	0	rs143056921	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:42991053C>T	ENST00000378661.2	-	1	348	c.267G>A	c.(265-267)tcG>tcA	p.S89S		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	89	Ser-rich.				regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						CAGACACCAGCGAGGAAGAGG	0.632													T	42991053	C	T	42991053	2	4	364	1	0	0	0	0	0	0	0	1	11407	755	27	1		1	OXER1	2	42991053	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54846	42991053	200208320	1808	25310											
THADA	63892	broad.mit.edu	37	chr2	43458140	43458140	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctcgattctgcataagAgtcccaaacactgagaacta	13	9	7	12	1	1	2	0	1	1	2	3	4	2	2	2	0	4	1	2	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43458140A>C	ENST00000405006.4	-	38	6160	c.5809T>G	c.(5809-5811)Tct>Gct	p.S1937A	AC010883.5_ENST00000423354.1_RNA|THADA_ENST00000405975.2_Missense_Mutation_p.S1937A|THADA_ENST00000330266.7_Intron|THADA_ENST00000415080.2_Missense_Mutation_p.S1618A	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1937							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				TCTGCATAAGAGTCCCAAACA	0.483													C	43458140	A	C	43458140	3	2	364	1	0	0	0	0	1	0	0	0	15940	304	11	5	56	5	THADA	2	43458140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	467087	43458140	199741233	1809	25311											
THADA	63892	broad.mit.edu	37	chr2	43800057	43800057	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgagctctagctattcGcagacatgccatcaaagctc	11	10	7	13	1	2	2	1	1	1	1	5	2	3	2	2	0	4	4	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43800057G>A	ENST00000403856.1	-	13	1951	c.1804C>T	c.(1804-1806)Cga>Tga	p.R602*	THADA_ENST00000404790.1_Nonsense_Mutation_p.R602*|THADA_ENST00000405006.4_Nonsense_Mutation_p.R602*|THADA_ENST00000405975.2_Nonsense_Mutation_p.R602*|THADA_ENST00000330266.7_Nonsense_Mutation_p.R312*|THADA_ENST00000415080.2_Nonsense_Mutation_p.R312*|THADA_ENST00000402360.2_Nonsense_Mutation_p.R602*			Q6YHU6	THADA_HUMAN	thyroid adenoma associated	602							binding			breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				CTAGCTATTCGCAGACATGCC	0.458													A	43800057	G	A	43800057	4	1	364	1	0	0	0	0	0	1	0	0	15940	1095	38	1	4165	1	THADA	2	43800057	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	341917	43800057	199399316	1810	25312											
PLEKHH2	130271	broad.mit.edu	37	chr2	43927114	43927114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctatatttgaggaagaGacttttggcataaagagacc	14	11	10	6	0	1	3	0	1	1	2	1	6	1	4	1	2	1	2	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43927114G>A	ENST00000282406.4	+	8	1127	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	339						cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TTGAGGAAGAGACTTTTGGCA	0.453													A	43927114	G	A	43927114	2	1	364	1	0	0	0	0	0	0	0	1	12154	933	33	2		2	PLEKHH2	2	43927114	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127057	43927114	199272259	1811	25313											
PLEKHH2	130271	broad.mit.edu	37	chr2	43980863	43980863	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggactttttcctctgaacaaAgatctggcattagaaatggc	12	12	9	8	0	2	3	0	1	2	2	3	4	3	4	1	3	1	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:43980863A>C	ENST00000282406.4	+	25	3869	c.3759A>C	c.(3757-3759)aaA>aaC	p.K1253N		NM_172069.3	NP_742066.2	Q8IVE3	PKHH2_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 2	1253	FERM.					cytoplasm|cytoskeleton|integral to membrane	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(24)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	56		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				CTCTGAACAAAGATCTGGCAT	0.328													C	43980863	A	C	43980863	3	2	364	1	0	0	0	0	1	0	0	0	12154	69	3	5	3853	5	PLEKHH2	2	43980863	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53749	43980863	199218510	1812	25314											
ABCG5	64240	broad.mit.edu	37	chr2	44051083	44051083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgttcagcatgcctgtgtaCggggtggcgcccacaaactg	7	8	14	12	3	1	0	1	0	0	0	1	0	1	0	2	3	4	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051083C>T	ENST00000543989.1	-	5	1813	c.108G>A	c.(106-108)ccG>ccA	p.P36P	ABCG5_ENST00000260645.1_Silent_p.P431P|ABCG5_ENST00000405322.1_Silent_p.P260P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	431					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.P431P(1)		breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TGCCTGTGTACGGGGTGGCGC	0.537													T	44051083	C	T	44051083	2	4	364	1	0	0	0	0	0	0	0	1	71	523	19	1		1	ABCG5	2	44051083	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70220	44051083	199148290	1813	25315											
ABCG5	64240	broad.mit.edu	37	chr2	44051213	44051213	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagattctgaaggagacgcGtaatcactgccagcttattt	11	12	9	9	2	3	3	2	1	1	2	3	4	3	3	1	1	2	2	1	1	3	4	rs149418765		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44051213G>A	ENST00000543989.1	-	0	1683				ABCG5_ENST00000260645.1_Missense_Mutation_p.T388M|ABCG5_ENST00000405322.1_Missense_Mutation_p.T217M			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5						cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGGAGACGCGTAATCACTGC	0.458													A	44051213	G	A	44051213	1	1	364	1	0	0	0	0	0	0	0	0	71	1145	40	1		1	ABCG5	2	44051213	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130	44051213	199148160	1814	25316											
ABCG5	64240	broad.mit.edu	37	chr2	44053537	44053537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgaaaaagctcagaaCggggctggtgaatggtgaga	13	8	14	6	1	1	4	1	3	0	2	1	5	1	4	1	4	3	2	1	4	5	1	rs148186696		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44053537C>T	ENST00000260645.1	-	6	897	c.758G>A	c.(757-759)cGt>cAt	p.R253H	ABCG5_ENST00000543989.1_Intron|ABCG5_ENST00000405322.1_Intron	NM_022436.2	NP_071881.1	Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	253	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AAGCTCAGAACGGGGCTGGTG	0.537													T	44053537	C	T	44053537	3	4	364	1	0	0	0	0	1	0	0	0	71	536	19	1	1229	1	ABCG5	2	44053537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2324	44053537	199145836	1815	25317											
ABCG8	64241	broad.mit.edu	37	chr2	44071654	44071654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcccacagggcctccaGgatagattgttctcctctga	7	12	9	13	0	3	2	0	1	3	1	6	3	4	3	4	2	0	1	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44071654G>T	ENST00000272286.2	+	2	162	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	24					cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGGGCCTCCAGGATAGATTGT	0.522													T	44071654	G	T	44071654	3	4	364	1	0	0	0	0	1	0	0	0	72	991	35	4	78	4	ABCG8	2	44071654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18117	44071654	199127719	1816	25318											
ABCG8	64241	broad.mit.edu	37	chr2	44078951	44078951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttctcccaggcccagcGtgacaaaagggtaactaact	13	7	8	13	1	1	1	0	1	1	0	2	1	1	1	3	2	4	1	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44078951G>A	ENST00000272286.2	+	4	641	c.551G>A	c.(550-552)cGt>cAt	p.R184H		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	184	ABC transporter.		R -> H (in STSL).		cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity	p.R184H(1)|p.R184L(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CAGGCCCAGCGTGACAAAAGG	0.622													A	44078951	G	A	44078951	3	1	364	1	0	0	0	0	1	0	0	0	72	1145	40	1	565	1	ABCG8	2	44078951	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7297	44078951	199120422	1817	25319											
ABCG8	64241	broad.mit.edu	37	chr2	44104939	44104939	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcatggagctggacTcgtaccctctctacgccatc	7	11	9	14	2	3	0	2	0	1	0	6	2	3	2	2	2	3	2	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44104939T>C	ENST00000272286.2	+	13	1999	c.1909T>C	c.(1909-1911)Tcg>Ccg	p.S637P		NM_022437.2	NP_071882.1	Q9H221	ABCG8_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 8	637	ABC transmembrane type-2.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(21)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	45		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				GGAGCTGGACTCGTACCCTCT	0.522											OREG0014582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	44104939	T	C	44104939	3	2	364	1	0	0	0	0	1	0	0	0	72	1551	54	3	1959	3	ABCG8	2	44104939	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25988	44104939	199094434	1818	25320											
LRPPRC	10128	broad.mit.edu	37	chr2	44173377	44173377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaattcaagggctttttgCatattctaaaatacagcata	14	15	5	7	0	3	0	2	0	1	0	3	0	3	0	0	1	3	3	0	1	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44173377C>T	ENST00000260665.7	-	21	2142	c.2085G>A	c.(2083-2085)atG>atA	p.M695I		NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	695					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GGGCTTTTTGCATATTCTAAA	0.318													T	44173377	C	T	44173377	3	4	364	1	0	0	0	0	1	0	0	0	9035	710	25	2	2171	2	LRPPRC	2	44173377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68438	44173377	199025996	1819	25321											
LRPPRC	10128	broad.mit.edu	37	chr2	44209388	44209388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgaaatacctgagcggcagGtatcattaaaaactttttgt	13	14	8	6	1	1	2	1	2	0	0	1	2	1	2	1	2	3	2	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44209388G>A	ENST00000260665.7	-	2	392	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRPPRC_ENST00000409946.1_Missense_Mutation_p.T112I|LRPPRC_ENST00000409659.1_Missense_Mutation_p.T112I	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	112					mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGAGCGGCAGGTATCATTAAA	0.428													A	44209388	G	A	44209388	3	1	364	1	0	0	0	0	1	0	0	0	9035	1261	44	2	3997	2	LRPPRC	2	44209388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36011	44209388	198989985	1820	25322											
SLC3A1	6519	broad.mit.edu	37	chr2	44528205	44528205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacgcaggtgggaatgcacGacattgtccgcagcttccgg	8	7	13	13	4	0	0	0	0	0	0	2	2	2	1	3	3	2	4	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:44528205G>A	ENST00000260649.6	+	6	1151	c.1075G>A	c.(1075-1077)Gac>Aac	p.D359N	SLC3A1_ENST00000410056.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409380.1_Missense_Mutation_p.D81N|SLC3A1_ENST00000409229.3_Missense_Mutation_p.D359N|SLC3A1_ENST00000409294.1_Intron|SLC3A1_ENST00000409387.1_Missense_Mutation_p.D359N|SLC3A1_ENST00000409741.1_Missense_Mutation_p.D359N	NM_000341.3	NP_000332.2	Q07837	SLC31_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 1	359					carbohydrate metabolic process|cellular amino acid metabolic process|ion transport	integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity|catalytic activity|cation binding|L-cystine transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|prostate(1)|skin(3)	26		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)			L-Cystine(DB00138)	GGGAATGCACGACATTGTCCG	0.532													A	44528205	G	A	44528205	3	1	364	1	0	0	0	0	1	0	0	0	14720	1058	37	1	1097	1	SLC3A1	2	44528205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318817	44528205	198671168	1821	25323											
SRBD1	55133	broad.mit.edu	37	chr2	45780832	45780832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaattatataagatctTcattaactctggccttgcaa	13	14	6	8	0	3	2	1	1	2	1	3	2	3	2	1	1	2	1	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45780832T>G	ENST00000263736.4	-	11	1509	c.1447A>C	c.(1447-1449)Aag>Cag	p.K483Q	SRBD1_ENST00000535761.1_Missense_Mutation_p.K2Q	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	483					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			TATAAGATCTTCATTAACTCT	0.358													G	45780832	T	G	45780832	3	3	364	1	0	0	0	0	1	0	0	0	15229	1792	62	5	1584	5	SRBD1	2	45780832	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1252627	45780832	197418541	1822	25324											
SRBD1	55133	broad.mit.edu	37	chr2	45800362	45800362	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacctgatgatggtgaatgTttcttatgttgcaggaaaaa	12	15	10	4	0	1	3	0	3	1	0	1	4	1	4	1	2	2	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:45800362T>G	ENST00000263736.4	-	9	1351	c.1289A>C	c.(1288-1290)aAc>aCc	p.N430T		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	430					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATGGTGAATGTTTCTTATGTT	0.333													G	45800362	T	G	45800362	3	3	364	1	0	0	0	0	1	0	0	0	15229	1725	60	5	1750	5	SRBD1	2	45800362	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19530	45800362	197399011	1823	25325											
PRKCE	5581	broad.mit.edu	37	chr2	46386777	46386777	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccccacaagcgcctgggCtgtgtggcatcgcagaatgg	9	7	13	12	2	0	1	0	0	0	1	2	1	1	1	3	3	1	3	3	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46386777C>T	ENST00000306156.3	+	14	2280	c.1953C>T	c.(1951-1953)ggC>ggT	p.G651G		NM_005400.2	NP_005391.1	Q02156	KPCE_HUMAN	protein kinase C, epsilon	651	Protein kinase.				activation of phospholipase C activity|induction of apoptosis|intracellular signal transduction|nerve growth factor receptor signaling pathway|platelet activation	cytosol|endoplasmic reticulum|plasma membrane	ATP binding|enzyme activator activity|metal ion binding|signal transducer activity		MBOAT2/PRKCE(2)	breast(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(13)|ovary(3)|upper_aerodigestive_tract(2)	34		all_hematologic(82;0.155)|Acute lymphoblastic leukemia(82;0.209)	LUSC - Lung squamous cell carcinoma(58;0.171)			AGCGCCTGGGCTGTGTGGCAT	0.547													T	46386777	C	T	46386777	2	4	364	1	0	0	0	0	0	0	0	1	12597	784	28	2		2	PRKCE	2	46386777	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	586415	46386777	196812596	1824	25326											
EPAS1	2034	broad.mit.edu	37	chr2	46603893	46603893	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcatctctctggatttcgGtgggtgcttcttagctaagc	6	15	10	10	1	4	0	1	0	3	0	6	1	4	1	0	3	3	2	0	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46603893G>A	ENST00000263734.3	+	9	1759		c.e9+1			NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1						angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding	p.?(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			CTGGATTTCGGTGGGTGCTTC	0.562													A	46603893	G	A	46603893	5	1	364	1	0	0	0	0	0	0	1	0	5191	1275	44	2	1284	2	EPAS1	2	46603893	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217116	46603893	196595480	1825	25327											
ATP6V1E2	90423	broad.mit.edu	37	chr2	46739186	46739186	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttatataaagaactttCtgttggtgttagcaccaaac	13	13	8	7	0	1	1	0	0	1	1	1	1	1	1	1	2	3	4	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739186C>A	ENST00000306448.4	-	2	1778	c.665G>T	c.(664-666)aGa>aTa	p.R222I	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.R222I	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	222					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			AAAGAACTTTCTGTTGGTGTT	0.393													A	46739186	C	A	46739186	3	1	364	1	0	0	0	0	1	0	0	0	1189	913	32	4	19	4	ATP6V1E2	2	46739186	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135293	46739186	196460187	1826	25328											
ATP6V1E2	90423	broad.mit.edu	37	chr2	46739757	46739757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcttcctcagccttggCatcgatttcctctgctttct	6	16	5	14	1	4	0	1	0	3	0	7	1	6	0	3	1	3	2	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46739757C>T	ENST00000306448.4	-	2	1207	c.94G>A	c.(94-96)Gcc>Acc	p.A32T	ATP6V1E2_ENST00000522587.1_Missense_Mutation_p.A32T	NM_080653.3	NP_542384.1	Q96A05	VATE2_HUMAN	ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E2	32					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain	proton-transporting ATPase activity, rotational mechanism			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.151)			TCAGCCTTGGCATCGATTTCC	0.448													T	46739757	C	T	46739757	3	4	364	1	0	0	0	0	1	0	0	0	1189	710	25	2	590	2	ATP6V1E2	2	46739757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571	46739757	196459616	1827	25329											
CRIPT	9419	broad.mit.edu	37	chr2	46850956	46850956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtagaatttgtaaaagttCtgtgcaccaaccaggttctc	11	14	8	8	0	2	1	0	0	2	1	3	1	2	1	2	1	2	5	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46850956C>T	ENST00000238892.3	+	4	323	c.191C>T	c.(190-192)tCt>tTt	p.S64F	CRIPT_ENST00000486447.1_3'UTR	NM_014171.4	NP_054890.1	Q9P021	CRIPT_HUMAN	cysteine-rich PDZ-binding protein	64						cell junction|cytoplasm|dendritic spine				kidney(1)|large_intestine(1)|lung(2)	4		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			TGTAAAAGTTCTGTGCACCAA	0.328													T	46850956	C	T	46850956	3	4	364	1	0	0	0	0	1	0	0	0	3909	913	32	2	205	2	CRIPT	2	46850956	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111199	46850956	196348417	1828	25330											
SOCS5	9655	broad.mit.edu	37	chr2	46986948	46986948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgctacaacagatccctgCatgcccgaattgagcagtgg	10	7	11	13	2	0	2	0	1	0	1	1	3	1	2	3	1	5	3	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:46986948C>T	ENST00000306503.5	+	2	1451	c.1279C>T	c.(1279-1281)Cat>Tat	p.H427Y	SOCS5_ENST00000394861.2_Missense_Mutation_p.H427Y	NM_014011.4	NP_054730.1	O75159	SOCS5_HUMAN	suppressor of cytokine signaling 5	427	SH2.				cell growth|cytokine-mediated signaling pathway|intracellular signal transduction|negative regulation of signal transduction|negative regulation of T-helper 2 cell differentiation|positive regulation of T-helper 1 cell differentiation|regulation of growth					breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(9)|ovary(2)	22		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	LUSC - Lung squamous cell carcinoma(58;0.114)			CAGATCCCTGCATGCCCGAAT	0.498													T	46986948	C	T	46986948	3	4	364	1	0	0	0	0	1	0	0	0	15011	710	25	2	1281	2	SOCS5	2	46986948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135992	46986948	196212425	1829	25331											
TTC7A	57217	broad.mit.edu	37	chr2	47184094	47184094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attgatgacatgtccatggaGaacaagcccctgtatcagat	13	10	9	9	0	1	4	1	2	0	2	2	5	2	4	3	1	2	1	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47184094G>A	ENST00000319190.5	+	3	833	c.465G>A	c.(463-465)gaG>gaA	p.E155E	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000394850.2_Silent_p.E155E|TTC7A_ENST00000461601.1_3'UTR|TTC7A_ENST00000409245.1_Silent_p.E121E	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	155							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			TGTCCATGGAGAACAAGCCCC	0.577													A	47184094	G	A	47184094	2	1	364	1	0	0	0	0	0	0	0	1	16814	933	33	2		2	TTC7A	2	47184094	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197146	47184094	196015279	1830	25332											
MSH2	4436	broad.mit.edu	37	chr2	47643491	47643492	+	Frame_Shift_Ins	INS	-	-	A																															ctgccttgctgaataagtgtINSaaaacccctcaaggacaaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:47643491_47643492insA	ENST00000406134.1	+	6	1061_1062	c.999_1000insA	c.(1000-1002)aaafs	p.K334fs	MSH2_ENST00000543555.1_Frame_Shift_Ins_p.K268fs|MSH2_ENST00000233146.2_Frame_Shift_Ins_p.K334fs			P43246	MSH2_HUMAN	mutS homolog 2	334					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGAATAAGTGTAAAACCCCTCA	0.391			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	47643492	-	A	47643491	7	5	364	1	0	1	1	0	0	0	0	0	9946	1644	57	0	1021	0	MSH2	2	47643491	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	459397	47643491	195555882	1831	25333											
MSH6	2956	broad.mit.edu	37	chr2	48010413	48010413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacagcttcttccccaagtCtccggcgctgagtgatgcca	7	10	10	14	2	2	2	0	2	2	0	4	2	3	2	4	1	3	3	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48010413C>A	ENST00000234420.5	+	1	193	c.41C>A	c.(40-42)tCt>tAt	p.S14Y	MSH6_ENST00000540021.1_Missense_Mutation_p.S14Y	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TTCCCCAAGTCTCCGGCGCTG	0.672			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	48010413	C	A	48010413	3	1	364	1	0	0	0	0	1	0	0	0	9950	913	32	4	43	4	MSH6	2	48010413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	366922	48010413	195188960	1832	25334											
MSH6	2956	broad.mit.edu	37	chr2	48026290	48026290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggaggcctgatcaccccGattttgatgcatctacactc	9	10	10	12	1	2	2	1	2	1	0	3	5	2	4	3	3	2	1	3	3	1	3	rs147737737		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48026290G>A	ENST00000234420.5	+	4	1320	c.1168G>A	c.(1168-1170)Gat>Aat	p.D390N	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.D88N|MSH6_ENST00000540021.1_Missense_Mutation_p.D260N	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)|p.D390N(1)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATCACCCCGATTTTGATGC	0.448			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	48026290	G	A	48026290	3	1	364	1	0	0	0	0	1	0	0	0	9950	1058	37	1	1182	1	MSH6	2	48026290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15877	48026290	195173083	1833	25335											
MSH6	2956	broad.mit.edu	37	chr2	48027090	48027090	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcattggggtgatgttaccCcaggtgcttaaaggtatgac	9	11	14	7	0	0	2	0	2	0	0	0	2	0	2	2	5	2	4	2	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48027090C>A	ENST00000234420.5	+	4	2120	c.1968C>A	c.(1966-1968)ccC>ccA	p.P656P	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Silent_p.P354P|MSH6_ENST00000540021.1_Silent_p.P526P	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			TGATGTTACCCCAGGTGCTTA	0.463			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	48027090	C	A	48027090	2	1	364	1	0	0	0	0	0	0	0	1	9950	610	22	4		4	MSH6	2	48027090	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	800	48027090	195172283	1834	25336											
MSH6	2956	broad.mit.edu	37	chr2	48030802	48030802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tactggaccaaatatgggggGcaagtctacgcttatgagac	12	9	12	8	1	1	1	0	1	1	1	1	3	1	2	1	4	2	2	1	4	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48030802G>A	ENST00000234420.5	+	5	3568	c.3416G>A	c.(3415-3417)gGc>gAc	p.G1139D	FBXO11_ENST00000405808.1_Intron|MSH6_ENST00000538136.1_Missense_Mutation_p.G837D|MSH6_ENST00000540021.1_Missense_Mutation_p.G1009D	NM_000179.2	NP_000170.1	P52701	MSH6_HUMAN	mutS homolog 6						determination of adult lifespan|DNA damage response, signal transduction resulting in induction of apoptosis|isotype switching|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|response to UV|somatic hypermutation of immunoglobulin genes	MutSalpha complex	ATP binding|DNA-dependent ATPase activity|protein binding	p.0?(2)		breast(8)|central_nervous_system(29)|cervix(1)|endometrium(32)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(75)|lung(25)|ovary(3)|prostate(3)|skin(10)|stomach(22)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	229		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			AATATGGGGGGCAAGTCTACG	0.378			"Mis, N, F, S"		colorectal	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	48030802	G	A	48030802	3	1	364	1	0	0	0	0	1	0	0	0	9950	1203	42	2	3434	2	MSH6	2	48030802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3712	48030802	195168571	1835	25337											
FOXN2	3344	broad.mit.edu	37	chr2	48573609	48573609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaattgttagtccattgTatgacatagagggagatgat	12	14	10	5	0	0	4	0	2	0	2	2	5	2	4	2	1	0	2	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48573609T>C	ENST00000340553.3	+	3	517	c.256T>C	c.(256-258)Tat>Cat	p.Y86H		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	86					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			TAGTCCATTGTATGACATAGA	0.433													C	48573609	T	C	48573609	3	2	364	1	0	0	0	0	1	0	0	0	6071	1638	57	3	258	3	FOXN2	2	48573609	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	542807	48573609	194625764	1836	25338											
FOXN2	3344	broad.mit.edu	37	chr2	48602108	48602108	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaaaaagaggagttaCggcaatgcatttcatcatcc	15	10	8	8	1	2	1	2	0	0	1	3	2	3	2	1	2	3	4	1	2	5	3	rs144420824	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602108C>T	ENST00000340553.3	+	7	1083	c.822C>T	c.(820-822)taC>taT	p.Y274Y		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	274					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			AGAGGAGTTACGGCAATGCAT	0.388													T	48602108	C	T	48602108	2	4	364	1	0	0	0	0	0	0	0	1	6071	547	19	1		1	FOXN2	2	48602108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28499	48602108	194597265	1837	25339											
FOXN2	3344	broad.mit.edu	37	chr2	48602548	48602548	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttccctaataagtactgCaaagacacaaaatcaaaagc	19	7	6	9	0	1	1	1	0	0	1	2	1	2	1	1	1	3	3	1	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48602548C>A	ENST00000340553.3	+	7	1523	c.1262C>A	c.(1261-1263)gCa>gAa	p.A421E		NM_002158.3	NP_002149.2	P32314	FOXN2_HUMAN	forkhead box N2	421					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.0272)|LUSC - Lung squamous cell carcinoma(58;0.036)			ATAAGTACTGCAAAGACACAA	0.383													A	48602548	C	A	48602548	3	1	364	1	0	0	0	0	1	0	0	0	6071	710	25	4	1280	4	FOXN2	2	48602548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	440	48602548	194596825	1838	25340											
STON1	11037	broad.mit.edu	37	chr2	48808411	48808411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctcatcaagaaacaaggaGatgcctattgaccaaaaaag	18	8	7	8	0	2	3	2	1	1	2	3	4	2	3	2	1	2	0	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48808411G>A	ENST00000309835.3	+	1	649	c.639G>A	c.(637-639)gaG>gaA	p.E213E	STON1-GTF2A1L_ENST00000405008.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000402114.2_Silent_p.E213E|STON1-GTF2A1L_ENST00000309827.2_Silent_p.E213E|STON1-GTF2A1L_ENST00000394751.3_Silent_p.E213E|STON1_ENST00000404752.1_Silent_p.E213E|STON1-GTF2A1L_ENST00000394754.1_Silent_p.E213E|STON1_ENST00000406226.1_Silent_p.E213E					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GAAACAAGGAGATGCCTATTG	0.408													A	48808411	G	A	48808411	2	1	364	1	0	0	0	0	0	0	0	1	15412	933	33	2		2	STON1	2	48808411	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205863	48808411	194390962	1839	25341											
STON1	11037	broad.mit.edu	37	chr2	48809188	48809188	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatgaatcctattatgaGaaggactcagaaaaaaaggg	18	7	11	5	1	1	4	1	2	0	3	2	7	2	5	1	2	0	0	1	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48809188G>T	ENST00000309835.3	+	1	1426	c.1416G>T	c.(1414-1416)gaG>gaT	p.E472D	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.E472D|STON1_ENST00000404752.1_Missense_Mutation_p.E472D|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.E472D|STON1_ENST00000406226.1_Missense_Mutation_p.E472D					stonin 1											NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCTATTATGAGAAGGACTCAG	0.358													T	48809188	G	T	48809188	3	4	364	1	0	0	0	0	1	0	0	0	15412	933	33	4	1418	4	STON1	2	48809188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	777	48809188	194390185	1840	25342											
STON1-GTF2A1L	286749	broad.mit.edu	37	chr2	48872236	48872236	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcatgtaccagcaggtgTgacactacagactgtatctg	11	11	9	10	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48872236T>C	ENST00000394754.1	+	7	2594	c.2480T>C	c.(2479-2481)gTg>gCg	p.V827A	STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.V827A|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.V827A|LHCGR_ENST00000420913.3_Intron|STON1-GTF2A1L_ENST00000394751.3_Intron|GTF2A1L_ENST00000468326.1_3'UTR|GTF2A1L_ENST00000430487.2_Missense_Mutation_p.V89A|GTF2A1L_ENST00000403751.3_Missense_Mutation_p.V123A	NM_172311.2	NP_758515.1	B7ZL16	B7ZL16_HUMAN		786					endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex				NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(22)|liver(2)|lung(49)|ovary(3)|pancreas(1)|prostate(4)|skin(4)	91		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			CCAGCAGGTGTGACACTACAG	0.323													C	48872236	T	C	48872236	3	2	364	1	0	0	0	0	1	0	0	0	15413	1696	59	3	2502	3	STON1-GTF2A1L	2	48872236	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63048	48872236	194327137	1841	25343											
LHCGR	3973	broad.mit.edu	37	chr2	48936113	48936113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcggccctgtggccccacgGaaggctccattgtgcatctt	5	11	11	14	2	1	0	0	0	1	0	3	1	2	1	4	4	1	2	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:48936113G>A	ENST00000294954.7	-	8	675	c.654C>T	c.(652-654)ttC>ttT	p.F218F	STON1-GTF2A1L_ENST00000402114.2_Intron|LHCGR_ENST00000344775.3_Silent_p.F218F|LHCGR_ENST00000405626.1_Silent_p.F218F|LHCGR_ENST00000401907.1_Silent_p.F218F|LHCGR_ENST00000403273.1_Silent_p.F218F	NM_000233.3	NP_000224.2	P22888	LSHR_HUMAN	luteinizing hormone/choriogonadotropin receptor	218					male genitalia development|male gonad development	endosome|integral to plasma membrane	luteinizing hormone receptor activity			NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(3)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	56		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Cetrorelix(DB00050)|Choriogonadotropin alfa(DB00097)|Goserelin(DB00014)|Lutropin alfa(DB00044)|Menotropins(DB00032)	TGGCCCCACGGAAGGCTCCAT	0.537													A	48936113	G	A	48936113	2	1	364	1	0	0	0	0	0	0	0	1	8822	1165	41	2		2	LHCGR	2	48936113	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63877	48936113	194263260	1842	25344											
FSHR	2492	broad.mit.edu	37	chr2	49190103	49190103	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaggaaggggttggcacaGgagttgatggggtgaaacag	12	7	19	3	0	0	3	0	2	0	1	0	5	0	5	0	7	1	3	0	7	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190103G>T	ENST00000406846.2	-	10	1976	c.1857C>A	c.(1855-1857)tcC>tcA	p.S619S	FSHR_ENST00000304421.4_Silent_p.S593S|FSHR_ENST00000346173.3_Silent_p.S557S|FSHR_ENST00000541117.1_Silent_p.S355S	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	619					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	GGTTGGCACAGGAGTTGATGG	0.473									Gonadal Dysgenesis, 46 XX				T	49190103	G	T	49190103	2	4	364	1	0	0	0	0	0	0	0	1	6125	987	35	4		4	FSHR	2	49190103	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253990	49190103	194009270	1843	25345											
FSHR	2492	broad.mit.edu	37	chr2	49190357	49190357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggacattgagcacaaGgagggacatgacatacagct	14	5	13	9	0	0	2	0	2	0	0	0	5	0	5	1	4	3	2	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49190357G>T	ENST00000406846.2	-	10	1722	c.1603C>A	c.(1603-1605)Ctt>Att	p.L535I	FSHR_ENST00000304421.4_Missense_Mutation_p.L509I|FSHR_ENST00000346173.3_Missense_Mutation_p.L473I|FSHR_ENST00000541117.1_Missense_Mutation_p.L271I	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	535					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TTGAGCACAAGGAGGGACATG	0.517									Gonadal Dysgenesis, 46 XX				T	49190357	G	T	49190357	3	4	364	1	0	0	0	0	1	0	0	0	6125	1000	35	4	488	4	FSHR	2	49190357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254	49190357	194009016	1844	25346											
FSHR	2492	broad.mit.edu	37	chr2	49195866	49195866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtttgcaaaggcacaGcaatggctgggataggtgag	11	8	14	8	0	0	1	0	1	0	0	1	2	1	2	1	4	2	5	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:49195866G>A	ENST00000406846.2	-	9	944	c.825C>T	c.(823-825)tgC>tgT	p.C275C	FSHR_ENST00000304421.4_Silent_p.C249C|FSHR_ENST00000346173.3_Intron|FSHR_ENST00000541117.1_Silent_p.C11C	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	275					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	CAAAGGCACAGCAATGGCTGG	0.493									Gonadal Dysgenesis, 46 XX				A	49195866	G	A	49195866	2	1	364	1	0	0	0	0	0	0	0	1	6125	963	34	2		2	FSHR	2	49195866	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5509	49195866	194003507	1845	25347											
NRXN1	9378	broad.mit.edu	37	chr2	50149183	50149183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccattggactgtgctgAgttactgatgtagtttcgac	8	13	11	9	1	0	2	0	2	0	0	1	4	0	3	2	1	3	4	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50149183A>G	ENST00000404971.1	-	24	5882	c.4543T>C	c.(4543-4545)Tca>Cca	p.S1515P	NRXN1_ENST00000401669.2_Missense_Mutation_p.S1475P|NRXN1_ENST00000342183.5_Missense_Mutation_p.S410P|NRXN1_ENST00000406859.3_Missense_Mutation_p.S1445P|NRXN1_ENST00000401710.1_Missense_Mutation_p.S463P|NRXN1_ENST00000402717.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000405472.3_Missense_Mutation_p.S1467P|NRXN1_ENST00000406316.2_Missense_Mutation_p.S1445P	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	1445					adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GACTGTGCTGAGTTACTGATG	0.448													G	50149183	A	G	50149183	3	3	364	1	0	0	0	0	1	0	0	0	10741	304	11	3	104	3	NRXN1	2	50149183	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	953317	50149183	193050190	1846	25348											
NRXN1	9378	broad.mit.edu	37	chr2	50850457	50850457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcgctgttacctgacGcagattcctggtgactttca	7	12	9	13	2	1	3	1	2	0	1	2	3	2	3	3	1	2	3	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:50850457G>A	ENST00000404971.1	-	7	2567	c.1228C>T	c.(1228-1230)Cgt>Tgt	p.R410C	NRXN1_ENST00000401669.2_Missense_Mutation_p.R377C|NRXN1_ENST00000406859.3_Missense_Mutation_p.R377C|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000402717.3_Missense_Mutation_p.R377C|NRXN1_ENST00000405472.3_Missense_Mutation_p.R377C|NRXN1_ENST00000406316.2_Missense_Mutation_p.R377C	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	377	Laminin G-like 2.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GTTACCTGACGCAGATTCCTG	0.443													A	50850457	G	A	50850457	3	1	364	1	0	0	0	0	1	0	0	0	10741	1087	38	1	3750	1	NRXN1	2	50850457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701274	50850457	192348916	1847	25349											
NRXN1	9378	broad.mit.edu	37	chr2	51254898	51254898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccgctccctcaccgaggCcagggtgagcttgagcgccg	5	6	13	17	4	1	2	1	2	0	0	3	3	3	2	5	2	2	2	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254898C>T	ENST00000404971.1	-	2	1853	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	NRXN1_ENST00000405581.1_Missense_Mutation_p.A172T|NRXN1_ENST00000401669.2_Missense_Mutation_p.A172T|NRXN1_ENST00000406859.3_Missense_Mutation_p.A172T|NRXN1_ENST00000402717.3_Missense_Mutation_p.A172T|NRXN1_ENST00000405472.3_Missense_Mutation_p.A172T|NRXN1_ENST00000406316.2_Missense_Mutation_p.A172T	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	172	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CTCACCGAGGCCAGGGTGAGC	0.677													T	51254898	C	T	51254898	3	4	364	1	0	0	0	0	1	0	0	0	10741	739	26	2	4484	2	NRXN1	2	51254898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404441	51254898	191944475	1848	25350											
NRXN1	9378	broad.mit.edu	37	chr2	51254960	51254960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccgacgaaaaggccgCtgaacaccgtcatgtccctg	9	5	10	17	4	1	1	1	1	0	0	2	3	2	1	6	1	1	1	6	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:51254960C>A	ENST00000404971.1	-	2	1791	c.452G>T	c.(451-453)aGc>aTc	p.S151I	NRXN1_ENST00000405581.1_Missense_Mutation_p.S151I|NRXN1_ENST00000401669.2_Missense_Mutation_p.S151I|NRXN1_ENST00000406859.3_Missense_Mutation_p.S151I|NRXN1_ENST00000402717.3_Missense_Mutation_p.S151I|NRXN1_ENST00000405472.3_Missense_Mutation_p.S151I|NRXN1_ENST00000406316.2_Missense_Mutation_p.S151I	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	151	Laminin G-like 1.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			GAAAAGGCCGCTGAACACCGT	0.672													A	51254960	C	A	51254960	3	1	364	1	0	0	0	0	1	0	0	0	10741	797	28	4	4546	4	NRXN1	2	51254960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62	51254960	191944413	1849	25351											
ERLEC1	27248	broad.mit.edu	37	chr2	54021567	54021567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atataaatgcatacttccccTtgtgacaagtggggatgagg	12	11	11	7	0	0	2	0	2	0	0	1	3	1	3	2	3	2	1	2	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54021567T>C	ENST00000185150.4	+	2	379	c.248T>C	c.(247-249)cTt>cCt	p.L83P	ERLEC1_ENST00000405123.3_Missense_Mutation_p.L83P|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L83P|GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	83					ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						ATACTTCCCCTTGTGACAAGT	0.294													C	54021567	T	C	54021567	3	2	364	1	0	0	0	0	1	0	0	0	5272	1609	56	3	254	3	ERLEC1	2	54021567	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2766607	54021567	189177806	1850	25352											
GPR75	10936	broad.mit.edu	37	chr2	54081849	54081849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagtgaggcacatggagCgaggtggcattgggggcatc	8	8	19	6	1	0	2	0	2	0	0	1	4	0	3	0	6	1	3	0	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54081849C>T	ENST00000394705.2	-	2	315	c.45G>A	c.(43-45)tcG>tcA	p.S15S	GPR75-ASB3_ENST00000352846.3_Intron|ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	15						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			GCACATGGAGCGAGGTGGCAT	0.522													T	54081849	C	T	54081849	2	4	364	1	0	0	0	0	0	0	0	1	6762	755	27	1		1	GPR75	2	54081849	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60282	54081849	189117524	1851	25353											
PSME4	23198	broad.mit.edu	37	chr2	54163276	54163276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatattatctgtagccaatCgagcaaagagatttactagt	14	13	7	7	1	1	1	0	0	1	1	2	3	1	1	1	0	3	2	1	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54163276C>T	ENST00000404125.1	-	7	837	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	261					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TGTAGCCAATCGAGCAAAGAG	0.358													T	54163276	C	T	54163276	3	4	364	1	0	0	0	0	1	0	0	0	12794	884	31	1	4909	1	PSME4	2	54163276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81427	54163276	189036097	1852	25354											
SPTBN1	6711	broad.mit.edu	37	chr2	54845255	54845255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaactaaagaaatctaacGcacactacaacctgcagaat	20	6	4	11	1	1	2	0	0	1	2	1	2	1	2	1	0	5	2	1	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54845255G>A	ENST00000333896.5	+	6	1034	c.649G>A	c.(649-651)Gca>Aca	p.A217T	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A230T	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	230	Actin-binding.|CH 2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GAAATCTAACGCACACTACAA	0.438													A	54845255	G	A	54845255	3	1	364	1	0	0	0	0	1	0	0	0	15215	1087	38	1	823	1	SPTBN1	2	54845255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	681979	54845255	188354118	1853	25355											
SPTBN1	6711	broad.mit.edu	37	chr2	54849603	54849603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcattcaacacttaccGcactgtggagaaaccaccca	13	7	7	14	1	2	1	2	0	0	1	2	2	2	1	3	2	3	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54849603G>A	ENST00000333896.5	+	8	1389	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R348H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	348					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AACACTTACCGCACTGTGGAG	0.423													A	54849603	G	A	54849603	3	1	364	1	0	0	0	0	1	0	0	0	15215	1087	38	1	1186	1	SPTBN1	2	54849603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4348	54849603	188349770	1854	25356											
SPTBN1	6711	broad.mit.edu	37	chr2	54858298	54858298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcctgtctcggctggcCgagatcagcgacgtgtggga	6	8	15	12	4	2	1	1	0	1	1	4	4	3	2	3	3	1	1	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54858298C>T	ENST00000333896.5	+	15	3460	c.3075C>T	c.(3073-3075)gcC>gcT	p.A1025A	SPTBN1_ENST00000356805.4_Silent_p.A1038A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1038					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CTCGGCTGGCCGAGATCAGCG	0.627													T	54858298	C	T	54858298	2	4	364	1	0	0	0	0	0	0	0	1	15215	639	23	1		1	SPTBN1	2	54858298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8695	54858298	188341075	1855	25357											
SPTBN1	6711	broad.mit.edu	37	chr2	54874343	54874343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggactatgcagagaccGtgcatcagctctccaagacc	11	7	11	12	1	2	2	1	0	1	2	3	5	2	4	3	2	3	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54874343G>A	ENST00000333896.5	+	23	5288	c.4903G>A	c.(4903-4905)Gtg>Atg	p.V1635M	SPTBN1_ENST00000356805.4_Missense_Mutation_p.V1648M	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1648	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TGCAGAGACCGTGCATCAGCT	0.547													A	54874343	G	A	54874343	3	1	364	1	0	0	0	0	1	0	0	0	15215	1145	40	1	5145	1	SPTBN1	2	54874343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16045	54874343	188325030	1856	25358											
SPTBN1	6711	broad.mit.edu	37	chr2	54876139	54876139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgagcgcattagcatgCggcagtccaaagtggataaa	13	8	12	8	2	1	1	1	1	0	0	2	2	2	2	1	2	3	3	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54876139C>T	ENST00000333896.5	+	24	5360	c.4975C>T	c.(4975-4977)Cgg>Tgg	p.R1659W	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1672W	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1672	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CATTAGCATGCGGCAGTCCAA	0.448													T	54876139	C	T	54876139	3	4	364	1	0	0	0	0	1	0	0	0	15215	759	27	1	5221	1	SPTBN1	2	54876139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1796	54876139	188323234	1857	25359											
SPTBN1	6711	broad.mit.edu	37	chr2	54885015	54885015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcagttctcaagagaCgccagtgtggccgaggcctg	8	8	13	12	2	2	1	2	0	1	1	4	3	3	1	4	2	0	1	4	2	1	1	rs144327595	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54885015C>T	ENST00000333896.5	+	29	6421	c.6036C>T	c.(6034-6036)gaC>gaT	p.D2012D	SPTBN1_ENST00000356805.4_Silent_p.D2025D	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2025	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			TCTCAAGAGACGCCAGTGTGG	0.587											OREG0014619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	54885015	C	T	54885015	2	4	364	1	0	0	0	0	0	0	0	1	15215	535	19	1		1	SPTBN1	2	54885015	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8876	54885015	188314358	1858	25360											
SPTBN1	6711	broad.mit.edu	37	chr2	54886386	54886386	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaggtttcagaggaagcCgagtcccagcagcagtggtg	11	6	15	9	2	1	1	1	0	0	1	2	4	2	2	2	3	3	3	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:54886386C>T	ENST00000333896.5	+	30	6685	c.6300C>T	c.(6298-6300)gcC>gcT	p.A2100A	SPTBN1_ENST00000356805.4_Silent_p.A2113A	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2113					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CAGAGGAAGCCGAGTCCCAGC	0.582													T	54886386	C	T	54886386	2	4	364	1	0	0	0	0	0	0	0	1	15215	639	23	1		1	SPTBN1	2	54886386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1371	54886386	188312987	1859	25361											
CCDC88A	55704	broad.mit.edu	37	chr2	55523586	55523586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccactgctggaccaagcCtcatggtcatgaagcaggct	10	8	10	13	0	2	1	2	1	0	0	2	2	2	2	3	3	4	3	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55523586C>A	ENST00000436346.1	-	30	5740	c.4899G>T	c.(4897-4899)gaG>gaT	p.E1633D	CCDC88A_ENST00000263630.8_Missense_Mutation_p.E1605D|CCDC88A_ENST00000422883.2_Missense_Mutation_p.E134D|CCDC88A_ENST00000413716.2_Missense_Mutation_p.E1632D|CCDC88A_ENST00000336838.6_Missense_Mutation_p.E1632D	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1633					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TGGACCAAGCCTCATGGTCAT	0.478													A	55523586	C	A	55523586	3	1	364	1	0	0	0	0	1	0	0	0	2891	680	24	4	728	4	CCDC88A	2	55523586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	637200	55523586	187675787	1860	25362											
CCDC88A	55704	broad.mit.edu	37	chr2	55544839	55544839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatctttgatcagagAatcatagagagattttaggt	13	15	9	4	0	4	5	3	2	1	3	4	7	4	5	0	1	0	0	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55544839A>G	ENST00000436346.1	-	20	4304	c.3463T>C	c.(3463-3465)Tct>Cct	p.S1155P	CCDC88A_ENST00000263630.8_Missense_Mutation_p.S1155P|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S1154P|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S1154P|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1155					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTGATCAGAGAATCATAGAGA	0.393													G	55544839	A	G	55544839	3	3	364	1	0	0	0	0	1	0	0	0	2891	246	9	3	2204	3	CCDC88A	2	55544839	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21253	55544839	187654534	1861	25363											
CCDC88A	55704	broad.mit.edu	37	chr2	55566748	55566748	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataatctacttgatgtcAactcattcacctcatggccc	11	13	4	13	0	6	1	5	1	1	0	6	1	6	1	2	1	2	0	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55566748A>G	ENST00000436346.1	-	13	2211	c.1370T>C	c.(1369-1371)tTg>tCg	p.L457S	CCDC88A_ENST00000263630.8_Missense_Mutation_p.L457S|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000413716.2_Missense_Mutation_p.L457S|CCDC88A_ENST00000336838.6_Missense_Mutation_p.L457S|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	457					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						ACTTGATGTCAACTCATTCAC	0.363													G	55566748	A	G	55566748	3	3	364	1	0	0	0	0	1	0	0	0	2891	131	5	3	4325	3	CCDC88A	2	55566748	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21909	55566748	187632625	1862	25364											
CCDC88A	55704	broad.mit.edu	37	chr2	55571571	55571571	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctaattcatgtaatttatcaGaacgagcacgagttccctct	12	13	6	10	2	3	1	2	0	1	1	4	3	4	1	1	0	2	3	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55571571G>A	ENST00000436346.1	-	11	1962	c.1121C>T	c.(1120-1122)tCt>tTt	p.S374F	CCDC88A_ENST00000263630.8_Missense_Mutation_p.S374F|CCDC88A_ENST00000413716.2_Missense_Mutation_p.S374F|CCDC88A_ENST00000336838.6_Missense_Mutation_p.S374F|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	374					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TAATTTATCAGAACGAGCACG	0.318													A	55571571	G	A	55571571	3	1	364	1	0	0	0	0	1	0	0	0	2891	942	33	2	4582	2	CCDC88A	2	55571571	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4823	55571571	187627802	1863	25365											
SMEK2	57223	broad.mit.edu	37	chr2	55825811	55825811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaggcatcccacgacaTccatgatacactcatcagaa	15	8	5	13	1	3	2	3	1	0	1	5	3	5	2	2	1	1	1	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:55825811T>C	ENST00000272313.5	-	4	989	c.662A>G	c.(661-663)gAt>gGt	p.D221G	SMEK2_ENST00000345102.5_Missense_Mutation_p.D221G|SMEK2_ENST00000407823.3_Missense_Mutation_p.D221G	NM_020463.2	NP_065196.1	Q5MIZ7	P4R3B_HUMAN	SMEK homolog 2, suppressor of mek1 (Dictyostelium)	221						microtubule organizing center|nucleus	protein binding			kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	16			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			TCCCACGACATCCATGATACA	0.368													C	55825811	T	C	55825811	3	2	364	1	0	0	0	0	1	0	0	0	14888	1435	50	3	1943	3	SMEK2	2	55825811	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	254240	55825811	187373562	1864	25366											
EFEMP1	2202	broad.mit.edu	37	chr2	56144875	56144875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagggttggagggaatgcGctgagggtcagctgggttcc	7	8	20	6	1	1	1	1	1	0	0	2	4	2	4	1	6	2	4	1	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56144875G>A	ENST00000394555.2	-	4	877	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R148C|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R90C|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R148C	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	148					negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAGGGAATGCGCTGAGGGTCA	0.552													A	56144875	G	A	56144875	3	1	364	1	0	0	0	0	1	0	0	0	4980	1087	38	1	1071	1	EFEMP1	2	56144875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	319064	56144875	187054498	1865	25367											
CCDC85A	114800	broad.mit.edu	37	chr2	56419887	56419887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctgcgcaggcagccgCtgctccatcgacagccaggc	7	4	14	16	3	0	0	0	0	0	0	2	1	1	0	3	3	4	6	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56419887C>T	ENST00000407595.2	+	2	1054	c.552C>T	c.(550-552)cgC>cgT	p.R184R	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	184										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CAGGCAGCCGCTGCTCCATCG	0.622													T	56419887	C	T	56419887	2	4	364	1	0	0	0	0	0	0	0	1	2887	784	28	2		2	CCDC85A	2	56419887	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275012	56419887	186779486	1866	25368											
CCDC85A	114800	broad.mit.edu	37	chr2	56420564	56420564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcaccggaatgtctacaGtggcatgaacggtgggtcag	10	8	13	10	2	3	1	2	1	1	0	3	2	3	2	2	4	2	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56420564G>T	ENST00000407595.2	+	2	1731	c.1229G>T	c.(1228-1230)aGt>aTt	p.S410I	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	410										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AATGTCTACAGTGGCATGAAC	0.592													T	56420564	G	T	56420564	3	4	364	1	0	0	0	0	1	0	0	0	2887	1029	36	4	1235	4	CCDC85A	2	56420564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	677	56420564	186778809	1867	25369											
CCDC85A	114800	broad.mit.edu	37	chr2	56602991	56602991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggggctgatgggagtaacaGttcacccaactctgcagcta	11	8	12	10	0	2	1	1	1	1	0	2	2	2	2	1	3	4	5	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56602991G>A	ENST00000407595.2	+	5	1995	c.1493G>A	c.(1492-1494)aGt>aAt	p.S498N	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	498										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GGGAGTAACAGTTCACCCAAC	0.428													A	56602991	G	A	56602991	3	1	364	1	0	0	0	0	1	0	0	0	2887	1029	36	2	1511	2	CCDC85A	2	56602991	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182427	56602991	186596382	1868	25370											
CCDC85A	114800	broad.mit.edu	37	chr2	56611422	56611422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtggaggaaacttggaGatgctgcaggttcgtgtcct	7	13	15	6	1	0	1	0	0	0	1	2	4	1	3	1	4	3	3	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:56611422G>T	ENST00000407595.2	+	6	2096	c.1594G>T	c.(1594-1596)Gat>Tat	p.D532Y	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	532										breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GAAACTTGGAGATGCTGCAGG	0.393													T	56611422	G	T	56611422	3	4	364	1	0	0	0	0	1	0	0	0	2887	942	33	4	1616	4	CCDC85A	2	56611422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8431	56611422	186587951	1869	25371											
VRK2	7444	broad.mit.edu	37	chr2	58386604	58386604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttatgagcctcatcaaGattttaccagtccagatata	13	14	5	9	0	2	3	2	1	0	2	3	3	3	3	3	0	2	0	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:58386604G>T	ENST00000435505.2	+	16	2048	c.1303G>T	c.(1303-1305)Gat>Tat	p.D435Y	FANCL_ENST00000402135.3_3'UTR|VRK2_ENST00000440705.2_Missense_Mutation_p.D412Y|VRK2_ENST00000412104.2_3'UTR|VRK2_ENST00000340157.4_Missense_Mutation_p.D435Y|FANCL_ENST00000233741.4_3'UTR|VRK2_ENST00000417641.2_3'UTR|FANCL_ENST00000403295.3_3'UTR			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	435						integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						GCCTCATCAAGATTTTACCAG	0.368													T	58386604	G	T	58386604	3	4	364	1	0	0	0	0	1	0	0	0	17322	942	33	4	1362	4	VRK2	2	58386604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1775182	58386604	184812769	1870	25372											
BCL11A	53335	broad.mit.edu	37	chr2	60688784	60688784	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgcgtcttcatgtggcgCttcagcttgctggcctgggt	3	14	14	10	2	3	0	2	0	1	0	3	0	3	0	1	3	3	3	1	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60688784C>A	ENST00000335712.6	-	4	1490	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	BCL11A_ENST00000358510.4_Missense_Mutation_p.K387N|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.K421N|BCL11A_ENST00000537768.1_Missense_Mutation_p.K90N|BCL11A_ENST00000538214.1_Missense_Mutation_p.K387N	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	421					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			TCATGTGGCGCTTCAGCTTGC	0.642			T	IGH@	B-CLL								A	60688784	C	A	60688784	3	1	364	1	0	0	0	0	1	0	0	0	1368	796	28	4	1354	4	BCL11A	2	60688784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2302180	60688784	182510589	1871	25373											
BCL11A	53335	broad.mit.edu	37	chr2	60689104	60689104	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctctaagtctcctagagaAatccatggcgggaggctcca	10	9	10	12	1	2	1	0	0	2	1	6	3	4	2	3	3	0	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60689104A>C	ENST00000335712.6	-	4	1170	c.943T>G	c.(943-945)Ttc>Gtc	p.F315V	BCL11A_ENST00000358510.4_Missense_Mutation_p.F281V|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000356842.4_Missense_Mutation_p.F315V|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.F281V	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	315	Pro-rich.				negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			CTCCTAGAGAAATCCATGGCG	0.612			T	IGH@	B-CLL								C	60689104	A	C	60689104	3	2	364	1	0	0	0	0	1	0	0	0	1368	14	1	5	1674	5	BCL11A	2	60689104	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	320	60689104	182510269	1872	25374											
PAPOLG	64895	broad.mit.edu	37	chr2	60995624	60995624	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctcccaccttctgttgTggctactgttggtggtaaaa	8	13	10	10	0	1	0	0	0	1	0	2	1	2	0	3	3	2	4	3	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:60995624T>A	ENST00000238714.3	+	4	515	c.266T>A	c.(265-267)gTg>gAg	p.V89E		NM_022894.3	NP_075045.2	Q9BWT3	PAPOG_HUMAN	poly(A) polymerase gamma	89					mRNA processing|RNA polyadenylation|transcription, DNA-dependent	nucleus	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(6)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	35	all_hematologic(2;0.0797)		LUSC - Lung squamous cell carcinoma(5;1.19e-07)|Lung(5;2.86e-06)|Epithelial(17;0.0768)			CCTTCTGTTGTGGCTACTGTT	0.378													A	60995624	T	A	60995624	3	1	364	1	0	0	0	0	1	0	0	0	11507	1696	59	5	280	5	PAPOLG	2	60995624	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	306520	60995624	182203749	1873	25375											
PUS10	150962	broad.mit.edu	37	chr2	61198657	61198657	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccctacctaaattacttaCcccatttcctgttttaccag	9	16	2	14	0	0	0	0	0	0	0	2	0	2	0	6	0	4	1	6	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61198657C>T	ENST00000316752.6	-	5	765		c.e5+1		PUS10_ENST00000407787.1_Splice_Site	NM_144709.2	NP_653310.2	Q3MIT2	PUS10_HUMAN	pseudouridylate synthase 10						pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)	22			LUSC - Lung squamous cell carcinoma(5;1.56e-06)|Lung(5;2.48e-05)|Epithelial(17;0.113)			AAATTACTTACCCCATTTCCT	0.368													T	61198657	C	T	61198657	5	4	364	1	0	0	0	0	0	0	1	0	12919	521	18	2	1141	2	PUS10	2	61198657	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203033	61198657	182000716	1874	25376											
PEX13	5194	broad.mit.edu	37	chr2	61258831	61258831	+	Nonsense_Mutation	SNP	G	G	T																															gatttgttcagcaagctgaaGaaagcagcaggggtgcattt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258831G>T	ENST00000295030.5	+	2	408	c.370G>T	c.(370-372)Gaa>Taa	p.E124*	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13						cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCAAGCTGAAGAAAGCAGCAG	0.448													T	61258831	G	T	61258831	4	4	364	1	0	0	0	0	0	1	0	0	11818	943	33	4	376	4	PEX13	2	61258831	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60174	61258831	181940542	1875	25377	46	2									
PEX13	5194	broad.mit.edu	37	chr2	61258835	61258835	+	Missense_Mutation	SNP	G	G	A																															tgttcagcaagctgaagaaaGcagcaggggtgcatttcagt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61258835G>A	ENST00000295030.5	+	2	412	c.374G>A	c.(373-375)aGc>aAc	p.S125N	PEX13_ENST00000472678.1_3'UTR	NM_002618.3	NP_002609.1	Q92968	PEX13_HUMAN	peroxisomal biogenesis factor 13						cerebral cortex cell migration|fatty acid alpha-oxidation|locomotory behavior|microtubule-based peroxisome localization|neuron migration|protein import into peroxisome matrix, docking|suckling behavior	integral to peroxisomal membrane|membrane fraction	protein binding			endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			LUSC - Lung squamous cell carcinoma(5;2.05e-06)|Lung(5;3.13e-05)|Epithelial(17;0.114)			GCTGAAGAAAGCAGCAGGGGT	0.443													A	61258835	G	A	61258835	3	1	364	1	0	0	0	0	1	0	0	0	11818	971	34	2	380	2	PEX13	2	61258835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4	61258835	181940538	1876	25378	46	2									
KIAA1841	84542	broad.mit.edu	37	chr2	61310368	61310368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacatgaactgtattaatgCaaatcttctcacacgtatag	15	12	5	9	1	2	1	1	1	2	0	3	1	2	1	0	0	3	3	0	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61310368C>T	ENST00000402291.1	+	8	1050	c.809C>T	c.(808-810)gCa>gTa	p.A270V	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000453873.1_Missense_Mutation_p.A270V|KIAA1841_ENST00000295031.5_Missense_Mutation_p.A270V|KIAA1841_ENST00000356719.2_Missense_Mutation_p.A270V	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	270										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			TGTATTAATGCAAATCTTCTC	0.299													T	61310368	C	T	61310368	3	4	364	1	0	0	0	0	1	0	0	0	8319	710	25	2	831	2	KIAA1841	2	61310368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51533	61310368	181889005	1877	25379											
USP34	9736	broad.mit.edu	37	chr2	61433181	61433181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctaagttctggaggaCtataggaattaagaagagtt	14	13	10	4	0	2	2	0	0	2	2	2	5	2	5	0	3	0	2	0	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61433181C>A	ENST00000398571.2	-	72	9201	c.9125G>T	c.(9124-9126)aGt>aTt	p.S3042I		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	3042					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TTCTGGAGGACTATAGGAATT	0.363													A	61433181	C	A	61433181	3	1	364	1	0	0	0	0	1	0	0	0	17167	565	20	4	1551	4	USP34	2	61433181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122813	61433181	181766192	1878	25380											
USP34	9736	broad.mit.edu	37	chr2	61441453	61441453	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctggacagtcagcacaGacattgtaccaaaatgaaag	15	9	8	9	0	2	2	1	1	1	1	3	3	2	3	1	1	2	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441453G>T	ENST00000398571.2	-	68	8500	c.8424C>A	c.(8422-8424)gtC>gtA	p.V2808V	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2808					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			AGTCAGCACAGACATTGTACC	0.413													T	61441453	G	T	61441453	2	4	364	1	0	0	0	0	0	0	0	1	17167	929	33	4		4	USP34	2	61441453	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8272	61441453	181757920	1879	25381											
USP34	9736	broad.mit.edu	37	chr2	61441712	61441712	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtagacctgatgtaggactActgttgtgtctggactgagt	8	14	13	6	0	1	3	0	2	1	1	1	5	1	5	1	2	1	3	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61441712A>G	ENST00000398571.2	-	68	8241	c.8165T>C	c.(8164-8166)gTa>gCa	p.V2722A	USP34_ENST00000472689.1_Intron	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	2722					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ATGTAGGACTACTGTTGTGTC	0.478													G	61441712	A	G	61441712	3	3	364	1	0	0	0	0	1	0	0	0	17167	391	14	3	2527	3	USP34	2	61441712	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	259	61441712	181757661	1880	25382											
USP34	9736	broad.mit.edu	37	chr2	61508367	61508367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccactgcatgattcatgaCgaactgcagtctagatgaaa	14	9	9	9	1	2	4	1	3	1	1	2	6	2	4	1	0	3	2	1	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:61508367C>T	ENST00000398571.2	-	38	5085	c.5009G>A	c.(5008-5010)cGt>cAt	p.R1670H		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	1670					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			TGATTCATGACGAACTGCAGT	0.368													T	61508367	C	T	61508367	3	4	364	1	0	0	0	0	1	0	0	0	17167	536	19	1	5803	1	USP34	2	61508367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66655	61508367	181691006	1881	25383											
FAM161A	84140	broad.mit.edu	37	chr2	62067501	62067501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagccagtatctttacagCgaatataatcctcaacacaa	16	9	6	10	1	2	0	1	0	1	0	3	2	3	1	2	1	4	1	2	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62067501C>T	ENST00000404929.1	-	3	649	c.638G>A	c.(637-639)cGc>cAc	p.R213H	FAM161A_ENST00000405894.3_Missense_Mutation_p.R213H	NM_001201543.1	NP_001188472.1	Q3B820	F161A_HUMAN	family with sequence similarity 161, member A	213					response to stimulus|visual perception	centrosome				breast(1)|endometrium(5)|large_intestine(8)|lung(4)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATCTTTACAGCGAATATAATC	0.388													T	62067501	C	T	62067501	3	4	364	1	0	0	0	0	1	0	0	0	5517	768	27	1	1360	1	FAM161A	2	62067501	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559134	62067501	181131872	1882	25384											
CCT4	10575	broad.mit.edu	37	chr2	62100196	62100196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctaactcagcagaacccaGcatgtcagcagtaaattggt	14	8	9	10	0	2	1	2	0	0	1	2	1	2	1	1	1	6	5	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62100196G>T	ENST00000394440.3	-	10	1362	c.1066C>A	c.(1066-1068)Ctg>Atg	p.L356M	CCT4_ENST00000544185.1_Missense_Mutation_p.L206M|CCT4_ENST00000461540.2_Intron|CCT4_ENST00000538252.1_Missense_Mutation_p.L300M|AC107081.5_ENST00000425779.1_RNA|CCT4_ENST00000544079.1_Missense_Mutation_p.L326M	NM_006430.3	NP_006421.2	P50991	TCPD_HUMAN	chaperonin containing TCP1, subunit 4 (delta)	356					'de novo' posttranslational protein folding	melanosome|microtubule organizing center|nucleus	ATP binding|unfolded protein binding			breast(1)|large_intestine(2)|lung(6)|ovary(2)	11	Lung NSC(7;0.035)|all_lung(7;0.0691)		LUSC - Lung squamous cell carcinoma(7;6.5e-06)|Epithelial(17;0.0647)|all cancers(80;0.221)			GCAGAACCCAGCATGTCAGCA	0.363													T	62100196	G	T	62100196	3	4	364	1	0	0	0	0	1	0	0	0	2985	962	34	4	573	4	CCT4	2	62100196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32695	62100196	181099177	1883	25385											
B3GNT2	10678	broad.mit.edu	37	chr2	62450246	62450246	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccagaagttgtttactcTggcctctacccaccctatgc	8	12	6	15	0	2	1	0	0	2	1	3	1	3	1	4	1	3	2	4	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:62450246T>C	ENST00000301998.4	+	2	1143	c.891T>C	c.(889-891)tcT>tcC	p.S297S	B3GNT2_ENST00000405767.1_Silent_p.S297S	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	297						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			TTGTTTACTCTGGCCTCTACC	0.532													C	62450246	T	C	62450246	2	2	364	1	0	0	0	0	0	0	0	1	1262	1567	55	3		3	B3GNT2	2	62450246	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	350050	62450246	180749127	1884	25386											
UGP2	7360	broad.mit.edu	37	chr2	64114548	64114548	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttacagactttggatggaGgcctgaatgtcattcaatta	11	14	9	7	0	3	2	2	1	1	1	3	4	3	4	1	3	1	0	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64114548G>T	ENST00000337130.5	+	8	1560	c.1084G>T	c.(1084-1086)Ggc>Tgc	p.G362C	UGP2_ENST00000467648.2_Missense_Mutation_p.G351C|UGP2_ENST00000445915.2_Missense_Mutation_p.G371C|UGP2_ENST00000394417.2_Missense_Mutation_p.G351C	NM_006759.3	NP_006750.3	Q16851	UGPA_HUMAN	UDP-glucose pyrophosphorylase 2	362					glycogen biosynthetic process|phosphorylation|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	metal ion binding|protein binding|UTP:glucose-1-phosphate uridylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)	18						TTTGGATGGAGGCCTGAATGT	0.413													T	64114548	G	T	64114548	3	4	364	1	0	0	0	0	1	0	0	0	17045	1000	35	4	1114	4	UGP2	2	64114548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1664302	64114548	179084825	1885	25387											
VPS54	51542	broad.mit.edu	37	chr2	64148459	64148459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcagttaatttcatatCttcactgaccctgaaaataa	14	14	5	8	0	4	3	3	3	1	0	4	3	4	3	1	0	0	1	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64148459C>A	ENST00000409558.4	-	13	1868	c.1714G>T	c.(1714-1716)Gat>Tat	p.D572Y	VPS54_ENST00000272322.4_Missense_Mutation_p.D584Y|VPS54_ENST00000354504.3_Missense_Mutation_p.D431Y	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AATTTCATATCTTCACTGACC	0.343													A	64148459	C	A	64148459	3	1	364	1	0	0	0	0	1	0	0	0	17318	913	32	4	1227	4	VPS54	2	64148459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33911	64148459	179050914	1886	25388											
AFTPH	54812	broad.mit.edu	37	chr2	64779246	64779246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagggacggaagcctcttaGcactcatagcactgagtata	14	8	10	9	1	2	1	1	1	1	0	2	3	2	3	1	2	3	3	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779246G>T	ENST00000422803.1	+	2	952	c.638G>T	c.(637-639)aGc>aTc	p.S213I	AFTPH_ENST00000238856.4_Missense_Mutation_p.S213I|AFTPH_ENST00000238855.7_Missense_Mutation_p.S213I|AFTPH_ENST00000409933.1_Missense_Mutation_p.S213I			Q6ULP2	AFTIN_HUMAN	aftiphilin	213					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						AAGCCTCTTAGCACTCATAGC	0.403													T	64779246	G	T	64779246	3	4	364	1	0	0	0	0	1	0	0	0	364	971	34	4	640	4	AFTPH	2	64779246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	630787	64779246	178420127	1887	25389											
AFTPH	54812	broad.mit.edu	37	chr2	64779664	64779664	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccattaggagagaacaatgTaaaactgaagaaaaacttga	20	7	9	5	0	0	4	0	2	0	2	0	6	0	5	1	1	3	1	1	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64779664T>C	ENST00000422803.1	+	2	1370	c.1056T>C	c.(1054-1056)tgT>tgC	p.C352C	AFTPH_ENST00000238856.4_Silent_p.C352C|AFTPH_ENST00000238855.7_Silent_p.C352C|AFTPH_ENST00000409933.1_Silent_p.C352C|AFTPH_ENST00000409183.1_5'UTR			Q6ULP2	AFTIN_HUMAN	aftiphilin	352					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						GAGAACAATGTAAAACTGAAG	0.383													C	64779664	T	C	64779664	2	2	364	1	0	0	0	0	0	0	0	1	364	1644	57	3		3	AFTPH	2	64779664	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	418	64779664	178419709	1888	25390											
SERTAD2	9792	broad.mit.edu	37	chr2	64863790	64863790	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgtttgagttcctcctgGatccgcctcaacatgttgtt	5	16	8	12	1	1	1	1	1	0	0	5	2	5	2	5	1	1	4	5	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:64863790G>T	ENST00000313349.3	-	2	513	c.216C>A	c.(214-216)atC>atA	p.I72I	SERTAD2_ENST00000476805.2_5'UTR	NM_014755.2	NP_055570.1	Q14140	SRTD2_HUMAN	SERTA domain containing 2	72	SERTA.				negative regulation of cell growth|transcription, DNA-dependent	cytoplasm|nucleus				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|skin(1)	12						GTTCCTCCTGGATCCGCCTCA	0.557													T	64863790	G	T	64863790	2	4	364	1	0	0	0	0	0	0	0	1	14214	1164	41	4		4	SERTAD2	2	64863790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84126	64863790	178335583	1889	25391											
SLC1A4	6509	broad.mit.edu	37	chr2	65228624	65228624	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggttgcagctttccgtacGgtaaggcttgatactttgct	6	15	12	8	2	0	1	0	1	0	0	1	1	1	1	1	3	5	7	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65228624G>A	ENST00000234256.3	+	2	813	c.570G>A	c.(568-570)acG>acA	p.T190T	SLC1A4_ENST00000531327.1_5'UTR|SLC1A4_ENST00000493121.1_3'UTR	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	190					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.T190T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CTTTCCGTACGGTAAGGCTTG	0.373													A	65228624	G	A	65228624	5	1	364	1	0	0	0	0	0	0	1	0	14528	1130	39	1	576	1	SLC1A4	2	65228624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364834	65228624	177970749	1890	25392											
CEP68	23177	broad.mit.edu	37	chr2	65309818	65309818	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccatggcggcaatggaGcacccatgtgaaggggttta	11	7	14	9	1	0	1	0	1	0	0	0	2	0	2	2	5	2	3	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65309818G>T	ENST00000377990.2	+	6	2456	c.2253G>T	c.(2251-2253)gaG>gaT	p.E751D	RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Missense_Mutation_p.E614D	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	751					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CGGCAATGGAGCACCCATGTG	0.512													T	65309818	G	T	65309818	3	4	364	1	0	0	0	0	1	0	0	0	3288	962	34	4	2271	4	CEP68	2	65309818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81194	65309818	177889555	1891	25393											
ACTR2	10097	broad.mit.edu	37	chr2	65473760	65473760	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggatgacatgaaacacCtgtgggactacacatttgga	13	10	11	7	0	0	2	0	2	0	0	0	5	0	5	1	3	2	0	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65473760C>A	ENST00000260641.5	+	3	419	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	ACTR2_ENST00000542850.1_Missense_Mutation_p.L33M|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Missense_Mutation_p.L93M	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	88					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						CATGAAACACCTGTGGGACTA	0.378													A	65473760	C	A	65473760	3	1	364	1	0	0	0	0	1	0	0	0	211	680	24	4	291	4	ACTR2	2	65473760	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163942	65473760	177725613	1892	25394											
SPRED2	200734	broad.mit.edu	37	chr2	65540818	65540818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggtctgtatagtctccCtcggggtccgacatacagtg	8	10	12	11	2	2	0	0	0	2	0	5	1	3	0	2	3	1	1	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540818C>A	ENST00000356388.4	-	6	1263	c.1074G>T	c.(1072-1074)gaG>gaT	p.E358D	SPRED2_ENST00000443619.2_Missense_Mutation_p.E355D	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	358	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						TATAGTCTCCCTCGGGGTCCG	0.582													A	65540818	C	A	65540818	3	1	364	1	0	0	0	0	1	0	0	0	15189	680	24	4	186	4	SPRED2	2	65540818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67058	65540818	177658555	1893	25395											
SPRED2	200734	broad.mit.edu	37	chr2	65540885	65540885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagctcacccggcggatgCaagttctcacggagtcgggc	7	7	14	13	4	2	0	2	0	1	0	4	2	2	2	1	4	3	4	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:65540885C>T	ENST00000356388.4	-	6	1196	c.1007G>A	c.(1006-1008)tGc>tAc	p.C336Y	SPRED2_ENST00000443619.2_Missense_Mutation_p.C333Y	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	336	SPR.				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						CCGGCGGATGCAAGTTCTCAC	0.627													T	65540885	C	T	65540885	3	4	364	1	0	0	0	0	1	0	0	0	15189	710	25	2	253	2	SPRED2	2	65540885	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67	65540885	177658488	1894	25396											
MEIS1	4211	broad.mit.edu	37	chr2	66664997	66664997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgggcctcctctgcactcGcatcagtacccgcacacagc	8	6	8	19	3	2	0	1	0	1	0	4	0	3	0	3	1	3	4	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:66664997G>A	ENST00000488550.1	+	2	440	c.141G>A	c.(139-141)tcG>tcA	p.S47S	MEIS1_ENST00000444274.2_Silent_p.S15S|MEIS1_ENST00000560281.2_Silent_p.S47S|MEIS1_ENST00000407092.2_Silent_p.S47S|MEIS1_ENST00000272369.9_Silent_p.S47S|MEIS1_ENST00000398506.2_Silent_p.S45S			O00470	MEIS1_HUMAN	Meis homeobox 1	47							sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTCTGCACTCGCATCAGTACC	0.577													A	66664997	G	A	66664997	2	1	364	1	0	0	0	0	0	0	0	1	9542	1074	38	1		1	MEIS1	2	66664997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1124112	66664997	176534376	1895	25397											
ETAA1	54465	broad.mit.edu	37	chr2	67630708	67630708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatgtagcggacagttaagCcaagaactgccagaggcttt	14	8	11	8	1	0	2	0	0	0	2	0	3	0	3	2	2	4	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67630708C>T	ENST00000272342.5	+	5	1024	c.894C>T	c.(892-894)agC>agT	p.S298S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	298						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTTAAGCCAAGAACTGC	0.378													T	67630708	C	T	67630708	2	4	364	1	0	0	0	0	0	0	0	1	5308	738	26	2		2	ETAA1	2	67630708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	965711	67630708	175568665	1896	25398											
ETAA1	54465	broad.mit.edu	37	chr2	67632257	67632257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagagcaaccttaacacaAcagttggattttcaaagttt	14	12	6	9	0	2	1	2	0	0	1	2	2	2	2	1	1	4	3	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:67632257A>G	ENST00000272342.5	+	5	2573	c.2443A>G	c.(2443-2445)Aca>Gca	p.T815A	ETAA1_ENST00000462772.1_3'UTR	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	815						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						CCTTAACACAACAGTTGGATT	0.313													G	67632257	A	G	67632257	3	3	364	1	0	0	0	0	1	0	0	0	5308	43	2	3	2461	3	ETAA1	2	67632257	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1549	67632257	175567116	1897	25399											
PLEK	5341	broad.mit.edu	37	chr2	68609737	68609737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgaatctagagaaggaCaagaagatttttaatcactg	17	10	9	5	0	2	4	1	1	1	3	2	7	2	5	0	1	1	0	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68609737C>T	ENST00000234313.7	+	4	623	c.444C>T	c.(442-444)gaC>gaT	p.D148D		NM_002664.2	NP_002655.2	P08567	PLEK_HUMAN	pleckstrin	148	DEP.				actin cytoskeleton reorganization|cortical actin cytoskeleton organization|hemopoietic progenitor cell differentiation|inhibition of phospholipase C activity involved in G-protein coupled receptor signaling pathway|integrin-mediated signaling pathway|negative regulation of calcium-mediated signaling|negative regulation of inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|platelet aggregation|positive regulation of actin filament bundle assembly|positive regulation of actin filament depolymerization|positive regulation of inositol-polyphosphate 5-phosphatase activity|positive regulation of integrin activation|positive regulation of platelet activation|protein kinase C signaling cascade|protein secretion by platelet|regulation of cell diameter|ruffle organization|thrombin receptor signaling pathway|vesicle docking involved in exocytosis	cytosol|extracellular region|membrane fraction|ruffle membrane|soluble fraction	phosphatidylinositol-3,4-bisphosphate binding|protein homodimerization activity|protein kinase C binding			autonomic_ganglia(1)|endometrium(3)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	24		Ovarian(717;0.0129)		STAD - Stomach adenocarcinoma(1183;0.00159)|READ - Rectum adenocarcinoma(193;0.0419)		TAGAGAAGGACAAGAAGATTT	0.413													T	68609737	C	T	68609737	2	4	364	1	0	0	0	0	0	0	0	1	12130	477	17	2		2	PLEK	2	68609737	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	977480	68609737	174589636	1898	25400											
PROKR1	10887	broad.mit.edu	37	chr2	68882376	68882376	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgcaggaagacggtcCtggtgctcatgtgcatcctc	6	9	13	13	2	1	1	1	0	0	1	4	2	3	2	3	3	3	4	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:68882376C>A	ENST00000303786.3	+	3	1270	c.850C>A	c.(850-852)Ctg>Atg	p.L284M	PROKR1_ENST00000394342.2_Missense_Mutation_p.L284M			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	284						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GAAGACGGTCCTGGTGCTCAT	0.612													A	68882376	C	A	68882376	3	1	364	1	0	0	0	0	1	0	0	0	12638	680	24	4	856	4	PROKR1	2	68882376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272639	68882376	174316997	1899	25401											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046261	69046261	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtctttcagggactcCtcagatccaaagagtgatga	10	12	9	10	0	4	4	2	2	2	2	6	5	6	5	2	1	0	0	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69046261C>A	ENST00000295381.3	+	9	1426	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.P330H|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.P329H|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.P337H|ARHGAP25_ENST00000479844.1_Missense_Mutation_p.P30H|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.P297H	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	336	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TCAGGGACTCCTCAGATCCAA	0.493													A	69046261	C	A	69046261	3	1	364	1	0	0	0	0	1	0	0	0	877	681	24	4	1084	4	ARHGAP25	2	69046261	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163885	69046261	174153112	1900	25402											
BMP10	27302	broad.mit.edu	37	chr2	69093135	69093135	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagatgatgtttgatctcatCtgcaacaaagcctcttcccc	10	13	6	12	0	3	3	1	2	3	1	5	3	4	3	3	0	3	2	3	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093135C>T	ENST00000295379.1	-	2	1061	c.903G>A	c.(901-903)caG>caA	p.Q301Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	301					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TTGATCTCATCTGCAACAAAG	0.483													T	69093135	C	T	69093135	2	4	364	1	0	0	0	0	0	0	0	1	1463	912	32	2		2	BMP10	2	69093135	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46874	69093135	174106238	1901	25403											
BMP10	27302	broad.mit.edu	37	chr2	69093325	69093325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggtatctatttctagcCgtccactgctggcatcctca	7	13	7	14	1	3	0	1	0	2	0	5	0	5	0	3	2	2	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69093325C>T	ENST00000295379.1	-	2	871	c.713G>A	c.(712-714)cGg>cAg	p.R238Q		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	238					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						TATTTCTAGCCGTCCACTGCT	0.498													T	69093325	C	T	69093325	3	4	364	1	0	0	0	0	1	0	0	0	1463	652	23	1	565	1	BMP10	2	69093325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190	69093325	174106048	1902	25404											
GKN2	200504	broad.mit.edu	37	chr2	69177295	69177295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtggtagaagagcatgatCctgcatggatgttaatgatg	11	13	13	4	0	0	4	0	2	0	2	1	5	1	5	1	2	2	4	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69177295C>T	ENST00000481498.1	-	3	185	c.167G>A	c.(166-168)gGa>gAa	p.G56E	GKN2_ENST00000328895.4_Missense_Mutation_p.G56E			Q86XP6	GKN2_HUMAN	gastrokine 2	56	BRICHOS.					extracellular region				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(1)	15						AGAGCATGATCCTGCATGGAT	0.368													T	69177295	C	T	69177295	3	4	364	1	0	0	0	0	1	0	0	0	6481	855	30	2	403	2	GKN2	2	69177295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83970	69177295	174022078	1903	25405											
GFPT1	2673	broad.mit.edu	37	chr2	69597161	69597161	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcatccagtgccttaacTtttcctttcttcttaataag	8	19	3	11	0	4	0	1	0	3	0	6	0	6	0	3	0	2	0	3	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:69597161T>G	ENST00000357308.4	-	3	373	c.195A>C	c.(193-195)aaA>aaC	p.K65N	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.K65N	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	65	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGCCTTAACTTTTCCTTTCT	0.408													G	69597161	T	G	69597161	3	3	364	1	0	0	0	0	1	0	0	0	6401	1606	56	5	1918	5	GFPT1	2	69597161	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	419866	69597161	173602212	1904	25406											
ANXA4	307	broad.mit.edu	37	chr2	70031690	70031690	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaagacgccattattagCgtccttgcctaccgcaacac	11	9	8	13	3	0	2	0	1	0	1	1	3	1	2	4	0	4	1	4	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70031690C>T	ENST00000394295.4	+	4	371	c.123C>T	c.(121-123)agC>agT	p.S41S	ANXA4_ENST00000536030.1_5'UTR|ANXA4_ENST00000409920.1_Silent_p.S41S	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	39					anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						CCATTATTAGCGTCCTTGCCT	0.557													T	70031690	C	T	70031690	2	4	364	1	0	0	0	0	0	0	0	1	720	767	27	1		1	ANXA4	2	70031690	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	434529	70031690	173167683	1905	25407											
GMCL1	64395	broad.mit.edu	37	chr2	70098941	70098941	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtagaacaactggctatcaaAtacttacacttgaaaaggat	17	10	7	7	0	1	2	1	1	0	1	1	3	1	3	0	2	4	2	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70098941A>C	ENST00000282570.3	+	13	1680	c.1429A>C	c.(1429-1431)Ata>Cta	p.I477L		NM_178439.3	NP_848526.1	Q96IK5	GMCL1_HUMAN	germ cell-less, spermatogenesis associated 1	477					cell differentiation|multicellular organismal development|spermatogenesis	nuclear matrix				endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	15						TGGCTATCAAATACTTACACT	0.279													C	70098941	A	C	70098941	3	2	364	1	0	0	0	0	1	0	0	0	6541	101	4	5	1479	5	GMCL1	2	70098941	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67251	70098941	173100432	1906	25408											
C2orf42	54980	broad.mit.edu	37	chr2	70408334	70408334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagtctgagaattcctgagCcagtgtctcatcactggcaa	11	10	10	10	0	3	2	2	2	2	1	5	4	4	2	2	1	1	1	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70408334C>T	ENST00000264434.2	-	3	1163	c.784G>A	c.(784-786)Gct>Act	p.A262T	C2orf42_ENST00000420306.1_Missense_Mutation_p.A262T	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	262										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						AATTCCTGAGCCAGTGTCTCA	0.428													T	70408334	C	T	70408334	3	4	364	1	0	0	0	0	1	0	0	0	2187	739	26	2	972	2	C2orf42	2	70408334	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	309393	70408334	172791039	1907	25409											
TIA1	7072	broad.mit.edu	37	chr2	70454956	70454956	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaagacatggaaatgatcTtataaggggaaggaagggga	18	6	14	3	0	1	2	0	1	1	1	1	6	1	6	0	6	0	0	0	6	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70454956T>G	ENST00000433529.2	-	6	521		c.e6-2		TIA1_ENST00000445587.1_Splice_Site|TIA1_ENST00000415783.2_Splice_Site|C2orf42_ENST00000470096.1_Intron|TIA1_ENST00000416149.2_Splice_Site|TIA1_ENST00000282574.4_Splice_Site	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein						apoptosis|induction of apoptosis|regulation of nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|poly(A) RNA binding|protein binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						GGAAATGATCTTATAAGGGGA	0.318													G	70454956	T	G	70454956	5	3	364	1	0	0	0	0	0	0	1	0	15987	1623	56	5	883	5	TIA1	2	70454956	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46622	70454956	172744417	1908	25410											
PCYOX1	51449	broad.mit.edu	37	chr2	70486557	70486557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggcagaaatttgggaaaGatgtgaagatagacctgttt	13	11	13	4	1	0	5	0	1	0	4	0	6	0	6	1	2	1	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70486557G>T	ENST00000433351.2	+	2	206	c.178G>T	c.(178-180)Gat>Tat	p.D60Y	PCYOX1_ENST00000505044.2_5'UTR|PCYOX1_ENST00000264441.5_Missense_Mutation_p.D60Y|PCYOX1_ENST00000545138.1_5'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	60					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						ATTTGGGAAAGATGTGAAGAT	0.488													T	70486557	G	T	70486557	3	4	364	1	0	0	0	0	1	0	0	0	11684	942	33	4	184	4	PCYOX1	2	70486557	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31601	70486557	172712816	1909	25411											
ADD2	119	broad.mit.edu	37	chr2	70890837	70890837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcgggctctgtggtggcgGctttgcttgtttctgtcttc	0	19	13	9	2	3	0	0	0	3	0	5	0	3	0	0	4	1	4	0	4	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70890837G>A	ENST00000264436.4	-	16	2345	c.1901C>T	c.(1900-1902)gCc>gTc	p.A634V	ADD2_ENST00000407644.2_Missense_Mutation_p.A634V|ADD2_ENST00000355733.3_3'UTR	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGTGGTGGCGGCTTTGCTTGT	0.522													A	70890837	G	A	70890837	3	1	364	1	0	0	0	0	1	0	0	0	305	1203	42	2	283	2	ADD2	2	70890837	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404280	70890837	172308536	1910	25412											
ADD2	119	broad.mit.edu	37	chr2	70919548	70919548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcaccgctgctgtggccGgtgtgtgcaggtggatgatg	5	10	16	10	2	1	1	1	1	0	0	1	2	1	2	2	4	2	3	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70919548G>A	ENST00000264436.4	-	7	1136	c.692C>T	c.(691-693)cCg>cTg	p.P231L	ADD2_ENST00000413157.2_Missense_Mutation_p.P231L|ADD2_ENST00000407644.2_Missense_Mutation_p.P231L|ADD2_ENST00000430656.1_Missense_Mutation_p.P247L|ADD2_ENST00000355733.3_Missense_Mutation_p.P231L	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						TGCTGTGGCCGGTGTGTGCAG	0.587													A	70919548	G	A	70919548	3	1	364	1	0	0	0	0	1	0	0	0	305	1116	39	1	1705	1	ADD2	2	70919548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28711	70919548	172279825	1911	25413											
ADD2	119	broad.mit.edu	37	chr2	70931553	70931553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttgttccccttcttcatCtgctcctggatgaggccttc	4	15	9	13	0	3	1	1	1	2	0	6	3	5	2	4	2	1	3	4	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:70931553C>A	ENST00000264436.4	-	4	666	c.222G>T	c.(220-222)caG>caT	p.Q74H	ADD2_ENST00000413157.2_Missense_Mutation_p.Q74H|ADD2_ENST00000407644.2_Missense_Mutation_p.Q74H|ADD2_ENST00000430656.1_Missense_Mutation_p.Q90H|ADD2_ENST00000355733.3_Missense_Mutation_p.Q74H	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CCTTCTTCATCTGCTCCTGGA	0.592													A	70931553	C	A	70931553	3	1	364	1	0	0	0	0	1	0	0	0	305	912	32	4	2191	4	ADD2	2	70931553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12005	70931553	172267820	1912	25414											
CLEC4F	165530	broad.mit.edu	37	chr2	71043260	71043260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctctggatctcggcaCtggccttctgcagattgctg	6	13	10	12	1	3	1	0	0	3	1	4	2	3	2	2	3	3	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71043260C>A	ENST00000272367.2	-	4	1329	c.1253G>T	c.(1252-1254)aGt>aTt	p.S418I	CLEC4F_ENST00000426626.1_Missense_Mutation_p.S418I	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	418					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						GATCTCGGCACTGGCCTTCTG	0.498													A	71043260	C	A	71043260	3	1	364	1	0	0	0	0	1	0	0	0	3547	565	20	4	532	4	CLEC4F	2	71043260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111707	71043260	172156113	1913	25415											
ATP6V1B1	525	broad.mit.edu	37	chr2	71170823	71170823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcgtgaacgggcccctgGtggtgctggaccgggtcaag	6	6	18	11	3	1	1	1	1	0	0	1	2	1	2	3	5	3	2	3	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71170823G>A	ENST00000234396.4	+	2	227	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	AC007040.7_ENST00000422761.1_RNA|ATP6V1B1_ENST00000412314.1_Missense_Mutation_p.V52M|AC007040.11_ENST00000606025.1_Intron|AC007040.7_ENST00000447639.1_RNA	NM_001692.3	NP_001683.2	P15313	VATB1_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B1	52					ATP hydrolysis coupled proton transport|calcium ion homeostasis|cellular iron ion homeostasis|excretion|inner ear morphogenesis|insulin receptor signaling pathway|ossification|pH reduction|sensory perception of sound|transferrin transport	apical plasma membrane|basolateral plasma membrane|cytosol|endomembrane system|lateral plasma membrane|microvillus|proton-transporting V-type ATPase, V1 domain|vacuolar proton-transporting V-type ATPase complex	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|prostate(1)|skin(1)	19						CGGGCCCCTGGTGGTGCTGGA	0.627													A	71170823	G	A	71170823	3	1	364	1	0	0	0	0	1	0	0	0	1183	1261	44	2	160	2	ATP6V1B1	2	71170823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127563	71170823	172028550	1914	25416											
ZNF638	27332	broad.mit.edu	37	chr2	71577212	71577212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagaattaccagtcacaGgctgacattcccattcggtc	14	9	7	11	1	1	2	1	1	0	1	4	2	2	2	2	2	1	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71577212G>T	ENST00000409544.1	+	2	1758	c.1128G>T	c.(1126-1128)caG>caT	p.Q376H	ZNF638_ENST00000264447.4_Missense_Mutation_p.Q376H|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000355812.3_Missense_Mutation_p.Q376H|ZNF638_ENST00000377802.2_Missense_Mutation_p.Q376H	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	376					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						ACCAGTCACAGGCTGACATTC	0.443													T	71577212	G	T	71577212	3	4	364	1	0	0	0	0	1	0	0	0	18156	991	35	4	1130	4	ZNF638	2	71577212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	406389	71577212	171622161	1915	25417											
ZNF638	27332	broad.mit.edu	37	chr2	71626719	71626719	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggaaagaagtctctagaagCcaaaaagactgggaatgtca	17	7	11	6	0	2	3	1	0	1	3	3	5	2	5	1	2	1	0	1	2	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71626719C>A	ENST00000409544.1	+	13	3161	c.2531C>A	c.(2530-2532)gCc>gAc	p.A844D	ZNF638_ENST00000264447.4_Missense_Mutation_p.A844D|ZNF638_ENST00000355812.3_Missense_Mutation_p.A844D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	844					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTCTAGAAGCCAAAAAGACT	0.353													A	71626719	C	A	71626719	3	1	364	1	0	0	0	0	1	0	0	0	18156	739	26	4	2577	4	ZNF638	2	71626719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49507	71626719	171572654	1916	25418											
ZNF638	27332	broad.mit.edu	37	chr2	71660295	71660295	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctcttcttatcctctagAattagactttcttgtaccta	8	19	4	10	0	4	2	0	0	4	2	6	2	5	2	2	0	1	1	2	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71660295A>C	ENST00000409544.1	+	27	6383	c.5753A>C	c.(5752-5754)gAa>gCa	p.E1918A	ZNF638_ENST00000409407.1_Splice_Site_p.E858A|ZNF638_ENST00000264447.4_Splice_Site_p.E1918A|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1918					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TATCCTCTAGAATTAGACTTT	0.363													C	71660295	A	C	71660295	5	2	364	1	0	0	0	0	0	0	1	0	18156	260	9	5	5855	5	ZNF638	2	71660295	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33576	71660295	171539078	1917	25419											
DYSF	8291	broad.mit.edu	37	chr2	71776489	71776489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacgcttcagaggagcctgCaggtgctgtcaagccttcga	8	10	12	11	2	2	1	2	0	0	1	3	3	2	2	2	2	5	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71776489C>T	ENST00000258104.3	+	17	1767	c.1490C>T	c.(1489-1491)gCa>gTa	p.A497V	DYSF_ENST00000409366.1_Missense_Mutation_p.A498V|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000413539.2_Missense_Mutation_p.A528V|DYSF_ENST00000429174.2_Missense_Mutation_p.A497V|DYSF_ENST00000394120.2_Missense_Mutation_p.A498V|DYSF_ENST00000409744.1_Intron|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000409651.1_Missense_Mutation_p.A529V|DYSF_ENST00000410041.1_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	497						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAGGAGCCTGCAGGTGCTGTC	0.577													T	71776489	C	T	71776489	3	4	364	1	0	0	0	0	1	0	0	0	4898	710	25	2	1748	2	DYSF	2	71776489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116194	71776489	171422884	1918	25420											
DYSF	8291	broad.mit.edu	37	chr2	71795164	71795164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctctcagtggatgagaaGgagttcaaccagtttgctga	10	10	14	7	0	2	2	2	2	1	1	3	5	2	4	1	3	2	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71795164G>T	ENST00000258104.3	+	25	2872	c.2595G>T	c.(2593-2595)aaG>aaT	p.K865N	DYSF_ENST00000409366.1_Missense_Mutation_p.K866N|DYSF_ENST00000409582.3_Missense_Mutation_p.K882N|DYSF_ENST00000413539.2_Missense_Mutation_p.K896N|DYSF_ENST00000429174.2_Missense_Mutation_p.K865N|DYSF_ENST00000394120.2_Missense_Mutation_p.K866N|DYSF_ENST00000409744.1_Missense_Mutation_p.K852N|DYSF_ENST00000409762.1_Missense_Mutation_p.K882N|DYSF_ENST00000410020.3_Missense_Mutation_p.K883N|DYSF_ENST00000409651.1_Missense_Mutation_p.K897N|DYSF_ENST00000410041.1_Missense_Mutation_p.K883N	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	865						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TGGATGAGAAGGAGTTCAACC	0.582													T	71795164	G	T	71795164	3	4	364	1	0	0	0	0	1	0	0	0	4898	991	35	4	2885	4	DYSF	2	71795164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18675	71795164	171404209	1919	25421											
DYSF	8291	broad.mit.edu	37	chr2	71801428	71801428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagatgccttccgccgccGccgctggcgccgtcgcatgg	4	6	14	17	7	0	1	0	0	0	1	2	2	1	1	6	2	1	2	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71801428G>A	ENST00000258104.3	+	30	3552	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	DYSF_ENST00000409366.1_Missense_Mutation_p.R1093H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1109H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1123H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1092H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1093H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1079H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1109H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1110H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1124H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1110H	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1092	Arg-rich.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						TTCCGCCGCCGCCGCTGGCGC	0.662													A	71801428	G	A	71801428	3	1	364	1	0	0	0	0	1	0	0	0	4898	1087	38	1	3585	1	DYSF	2	71801428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6264	71801428	171397945	1920	25422											
DYSF	8291	broad.mit.edu	37	chr2	71838445	71838445	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatggttcctcagaacaTcaagccagcgctccagcgta	11	8	8	14	2	2	1	2	0	0	1	4	1	4	1	3	1	5	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71838445T>A	ENST00000258104.3	+	37	4251	c.3974T>A	c.(3973-3975)aTc>aAc	p.I1325N	DYSF_ENST00000409366.1_Missense_Mutation_p.I1326N|DYSF_ENST00000409582.3_Missense_Mutation_p.I1342N|DYSF_ENST00000413539.2_Missense_Mutation_p.I1356N|DYSF_ENST00000429174.2_Missense_Mutation_p.I1325N|DYSF_ENST00000394120.2_Missense_Mutation_p.I1326N|DYSF_ENST00000409744.1_Missense_Mutation_p.I1312N|DYSF_ENST00000409762.1_Missense_Mutation_p.I1342N|DYSF_ENST00000410020.3_Missense_Mutation_p.I1343N|DYSF_ENST00000409651.1_Missense_Mutation_p.I1357N|DYSF_ENST00000410041.1_Missense_Mutation_p.I1343N|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1325			I -> M (in a breast cancer sample; somatic mutation).|I -> V.			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCTCAGAACATCAAGCCAGCG	0.637													A	71838445	T	A	71838445	3	1	364	1	0	0	0	0	1	0	0	0	4898	1435	50	5	4312	5	DYSF	2	71838445	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37017	71838445	171360928	1921	25423											
DYSF	8291	broad.mit.edu	37	chr2	71906211	71906211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcagctcgatctcaaccGcatgcccaagccagccaaga	11	5	8	17	2	1	1	1	0	1	1	3	2	1	1	5	0	6	3	5	0	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71906211G>A	ENST00000258104.3	+	52	6069	c.5792G>A	c.(5791-5793)cGc>cAc	p.R1931H	DYSF_ENST00000409366.1_Missense_Mutation_p.R1953H|DYSF_ENST00000409582.3_Missense_Mutation_p.R1969H|DYSF_ENST00000413539.2_Missense_Mutation_p.R1962H|DYSF_ENST00000429174.2_Missense_Mutation_p.R1952H|DYSF_ENST00000394120.2_Missense_Mutation_p.R1932H|DYSF_ENST00000409744.1_Missense_Mutation_p.R1939H|DYSF_ENST00000409762.1_Missense_Mutation_p.R1948H|DYSF_ENST00000410020.3_Missense_Mutation_p.R1970H|DYSF_ENST00000409651.1_Missense_Mutation_p.R1963H|DYSF_ENST00000410041.1_Missense_Mutation_p.R1949H|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1931						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GATCTCAACCGCATGCCCAAG	0.547													A	71906211	G	A	71906211	3	1	364	1	0	0	0	0	1	0	0	0	4898	1087	38	1	6257	1	DYSF	2	71906211	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67766	71906211	171293162	1922	25424											
DYSF	8291	broad.mit.edu	37	chr2	71908241	71908241	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctaagcttgaggacccaagGtcagtgcccagcccctgagc	9	6	11	15	0	1	2	1	2	0	0	1	3	1	3	5	2	4	1	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:71908241G>A	ENST00000258104.3	+	53	6333		c.e53+1		DYSF_ENST00000409366.1_Splice_Site|DYSF_ENST00000409582.3_Splice_Site|DYSF_ENST00000413539.2_Splice_Site|DYSF_ENST00000429174.2_Splice_Site|DYSF_ENST00000394120.2_Splice_Site|DYSF_ENST00000409744.1_Splice_Site|DYSF_ENST00000409762.1_Splice_Site|DYSF_ENST00000410020.3_Splice_Site|DYSF_ENST00000409651.1_Splice_Site|DYSF_ENST00000410041.1_Splice_Site|DYSF_ENST00000479049.2_Splice_Site	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin							cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						AGGACCCAAGGTCAGTGCCCA	0.587													A	71908241	G	A	71908241	5	1	364	1	0	0	0	0	0	0	1	0	4898	1275	44	2	6526	2	DYSF	2	71908241	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2030	71908241	171291132	1923	25425											
CYP26B1	56603	broad.mit.edu	37	chr2	72359652	72359652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcgcctggctgaagcgatCggggtcgaacacgttcacgt	7	7	14	13	7	1	1	1	1	0	0	3	3	1	1	2	3	2	2	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72359652C>T	ENST00000001146.2	-	6	1446	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N	CYP26B1_ENST00000412253.1_Missense_Mutation_p.D224N|CYP26B1_ENST00000546307.1_Missense_Mutation_p.D340N	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	415					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTGAAGCGATCGGGGTCGAAC	0.617													T	72359652	C	T	72359652	3	4	364	1	0	0	0	0	1	0	0	0	4189	884	31	1	299	1	CYP26B1	2	72359652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451411	72359652	170839721	1924	25426											
CYP26B1	56603	broad.mit.edu	37	chr2	72360211	72360211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgggcgtgaacaggcGcatgacctccttgatgacgc	10	7	14	10	3	0	4	0	4	0	0	1	5	1	5	2	3	1	1	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360211G>A	ENST00000001146.2	-	5	1290	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CYP26B1_ENST00000412253.1_Missense_Mutation_p.R172C|CYP26B1_ENST00000546307.1_Missense_Mutation_p.R288C	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	363					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTGAACAGGCGCATGACCTCC	0.672													A	72360211	G	A	72360211	3	1	364	1	0	0	0	0	1	0	0	0	4189	1087	38	1	459	1	CYP26B1	2	72360211	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	559	72360211	170839162	1925	25427											
CYP26B1	56603	broad.mit.edu	37	chr2	72360435	72360435	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagctccagggtcccgTcctgcagggcacagaggaga	10	5	14	12	1	1	3	1	0	0	3	4	4	4	3	3	3	2	3	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:72360435T>C	ENST00000001146.2	-	5	1066	c.863A>G	c.(862-864)gAc>gGc	p.D288G	CYP26B1_ENST00000412253.1_Splice_Site_p.D97G|CYP26B1_ENST00000546307.1_Splice_Site_p.D213G	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	288					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CAGGGTCCCGTCCTGCAGGGC	0.637													C	72360435	T	C	72360435	5	2	364	1	0	0	0	0	0	0	1	0	4189	1681	58	3	683	3	CYP26B1	2	72360435	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	224	72360435	170838938	1926	25428											
SFXN5	94097	broad.mit.edu	37	chr2	73172191	73172191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccactgtccggctgctcgtgGcctgggctatctccggctct	2	11	12	16	3	2	0	0	0	2	0	5	0	3	0	4	4	1	4	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73172191G>A	ENST00000272433.2	-	14	1113	c.983C>T	c.(982-984)gCc>gTc	p.A328V	SFXN5_ENST00000410065.1_3'UTR|SFXN5_ENST00000474528.1_5'UTR	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	328					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						GCTGCTCGTGGCCTGGGCTAT	0.612													A	73172191	G	A	73172191	3	1	364	1	0	0	0	0	1	0	0	0	14291	1203	42	2	43	2	SFXN5	2	73172191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	811756	73172191	170027182	1927	25429											
SFXN5	94097	broad.mit.edu	37	chr2	73249650	73249650	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagggccccaggagcttaCctgacattctaaatggcatg	12	8	11	10	0	1	2	0	1	1	1	1	3	1	3	3	3	2	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73249650C>A	ENST00000272433.2	-	5	462		c.e5+1		SFXN5_ENST00000410065.1_Splice_Site|SFXN5_ENST00000474528.1_Splice_Site	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5						iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CAGGAGCTTACCTGACATTCT	0.547													A	73249650	C	A	73249650	5	1	364	1	0	0	0	0	0	0	1	0	14291	521	18	4	730	4	SFXN5	2	73249650	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77459	73249650	169949723	1928	25430											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316022	73316022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacccccttcagtggacaGccagctgctacggcttggtg	6	9	11	15	1	2	0	2	0	0	0	2	1	2	1	3	3	4	3	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316022G>A	ENST00000258098.6	-	2	1093	c.853C>T	c.(853-855)Ctg>Ttg	p.L285L	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	285					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TCAGTGGACAGCCAGCTGCTA	0.687													A	73316022	G	A	73316022	2	1	364	1	0	0	0	0	0	0	0	1	12985	962	34	2		2	RAB11FIP5	2	73316022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66372	73316022	169883351	1929	25431											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73316066	73316066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgaggagttcggcgccaGgtccctggtaggccaagctc	6	7	17	11	2	0	1	0	1	0	0	3	2	1	2	3	6	1	3	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73316066G>T	ENST00000258098.6	-	2	1049	c.809C>A	c.(808-810)cCt>cAt	p.P270H	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	270					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						TTCGGCGCCAGGTCCCTGGTA	0.682													T	73316066	G	T	73316066	3	4	364	1	0	0	0	0	1	0	0	0	12985	1000	35	4	1168	4	RAB11FIP5	2	73316066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	73316066	169883307	1930	25432											
SMYD5	10322	broad.mit.edu	37	chr2	73446052	73446052	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcgtagaacggcccCtggtggctgcacagtttctc	6	11	10	14	2	2	1	0	0	2	1	4	1	2	1	3	3	2	4	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73446052C>T	ENST00000389501.4	+	2	205	c.160C>T	c.(160-162)Ctg>Ttg	p.L54L	SMYD5_ENST00000474652.1_3'UTR	NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	54							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						AGAACGGCCCCTGGTGGCTGC	0.542													T	73446052	C	T	73446052	2	4	364	1	0	0	0	0	0	0	0	1	14919	680	24	2		2	SMYD5	2	73446052	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129986	73446052	169753321	1931	25433											
CCT7	10574	broad.mit.edu	37	chr2	73470241	73470241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcatcattcgagctttccGcacagccacccagctggtat	9	10	8	14	2	2	0	2	0	0	0	4	2	3	0	3	1	3	4	3	1	1	3	rs11544996		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73470241G>A	ENST00000539919.1	+	5	616	c.245G>A	c.(244-246)cGc>cAc	p.R82H	CCT7_ENST00000258091.5_Missense_Mutation_p.R126H|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000540468.1_Missense_Mutation_p.R39H|CCT7_ENST00000473786.1_3'UTR|CCT7_ENST00000538797.1_Missense_Mutation_p.A16T|CCT7_ENST00000537131.1_Missense_Mutation_p.R26H	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	126					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						CGAGCTTTCCGCACAGCCACC	0.512													A	73470241	G	A	73470241	3	1	364	1	0	0	0	0	1	0	0	0	2989	1087	38	1	391	1	CCT7	2	73470241	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24189	73470241	169729132	1932	25434											
ALMS1	7840	broad.mit.edu	37	chr2	73675915	73675915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagctgaccagaagaCtgagataccagcagtacagt	14	6	11	10	0	0	4	0	2	0	3	0	6	0	5	3	1	4	3	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73675915C>A	ENST00000264448.6	+	8	2369	c.2258C>A	c.(2257-2259)aCt>aAt	p.T753N	ALMS1_ENST00000409009.1_Missense_Mutation_p.T711N|ALMS1_ENST00000377715.1_Missense_Mutation_p.T753N	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	753	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GACCAGAAGACTGAGATACCA	0.438													A	73675915	C	A	73675915	3	1	364	1	0	0	0	0	1	0	0	0	535	565	20	4	2288	4	ALMS1	2	73675915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205674	73675915	169523458	1933	25435											
ALMS1	7840	broad.mit.edu	37	chr2	73677079	73677079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaccaactgtaacctcaaCttcctactcacaacatagag	15	8	3	15	0	2	1	2	0	0	1	3	1	3	1	3	0	5	1	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677079C>T	ENST00000264448.6	+	8	3533	c.3422C>T	c.(3421-3423)aCt>aTt	p.T1141I	ALMS1_ENST00000409009.1_Missense_Mutation_p.T1099I|ALMS1_ENST00000377715.1_Missense_Mutation_p.T1141I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1141	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						GTAACCTCAACTTCCTACTCA	0.478													T	73677079	C	T	73677079	3	4	364	1	0	0	0	0	1	0	0	0	535	565	20	2	3452	2	ALMS1	2	73677079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1164	73677079	169522294	1934	25436											
ALMS1	7840	broad.mit.edu	37	chr2	73677140	73677140	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggccttgccaggtacTcatatacctgaagaggctca	11	8	10	12	0	2	2	2	1	0	1	2	2	2	2	3	3	4	3	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73677140T>A	ENST00000264448.6	+	8	3594	c.3483T>A	c.(3481-3483)acT>acA	p.T1161T	ALMS1_ENST00000409009.1_Silent_p.T1119T|ALMS1_ENST00000377715.1_Silent_p.T1161T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	1161	34 X 47 AA approximate tandem repeat.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGCCAGGTACTCATATACCTG	0.463													A	73677140	T	A	73677140	2	1	364	1	0	0	0	0	0	0	0	1	535	1538	54	5		5	ALMS1	2	73677140	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61	73677140	169522233	1935	25437											
ALMS1	7840	broad.mit.edu	37	chr2	73717414	73717414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccttcatcatttaaaatGcatagtaattcacaagataa	16	13	3	9	0	3	1	3	0	0	1	4	1	4	1	2	0	1	2	2	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717414G>A	ENST00000264448.6	+	10	8436	c.8325G>A	c.(8323-8325)atG>atA	p.M2775I	ALMS1_ENST00000409009.1_Missense_Mutation_p.M2733I	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2775					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATTTAAAATGCATAGTAATT	0.358													A	73717414	G	A	73717414	3	1	364	1	0	0	0	0	1	0	0	0	535	1319	46	2	8363	2	ALMS1	2	73717414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40274	73717414	169481959	1936	25438											
ALMS1	7840	broad.mit.edu	37	chr2	73717916	73717916	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtagatcatcaaatgagaGaaaaccattctccccttcct	14	11	5	11	0	3	3	2	1	1	2	5	4	4	3	4	0	1	1	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717916G>T	ENST00000264448.6	+	10	8938	c.8827G>T	c.(8827-8829)Gaa>Taa	p.E2943*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.E2901*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2943					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAAATGAGAGAAAACCATTC	0.438													T	73717916	G	T	73717916	4	4	364	1	0	0	0	0	0	1	0	0	535	943	33	4	8865	4	ALMS1	2	73717916	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	502	73717916	169481457	1937	25439											
ALMS1	7840	broad.mit.edu	37	chr2	73717968	73717968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatagcttcagaccttcCgtctcccatttctcttgaac	7	16	4	14	1	4	2	1	1	3	1	7	2	5	2	3	0	2	1	3	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73717968C>T	ENST00000264448.6	+	10	8990	c.8879C>T	c.(8878-8880)cCg>cTg	p.P2960L	ALMS1_ENST00000409009.1_Missense_Mutation_p.P2918L	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2960					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCAGACCTTCCGTCTCCCATT	0.438													T	73717968	C	T	73717968	3	4	364	1	0	0	0	0	1	0	0	0	535	652	23	1	8917	1	ALMS1	2	73717968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	73717968	169481405	1938	25440											
ALMS1	7840	broad.mit.edu	37	chr2	73829483	73829483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagaatcgcatgtgcccgCtgcccaagagaggtacgccc	10	5	11	15	3	0	2	0	0	0	2	1	3	0	2	4	1	3	3	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73829483C>T	ENST00000264448.6	+	20	12394	c.12283C>T	c.(12283-12285)Ctg>Ttg	p.L4095L	ALMS1_ENST00000409009.1_Silent_p.L4053L|ALMS1_ENST00000464408.2_3'UTR	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4095					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CATGTGCCCGCTGCCCAAGAG	0.582													T	73829483	C	T	73829483	2	4	364	1	0	0	0	0	0	0	0	1	535	796	28	2		2	ALMS1	2	73829483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111515	73829483	169369890	1939	25441											
TPRKB	51002	broad.mit.edu	37	chr2	73957782	73957783	+	Frame_Shift_Ins	INS	-	-	T																															aggtattcttgatttatttgINStttttctccctcttcaatgt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:73957782_73957783insT	ENST00000318190.7	-	5	582_583	c.462_463insA	c.(460-465)aaacaafs	p.Q155fs	TPRKB_ENST00000485758.1_5'UTR|TPRKB_ENST00000272424.5_Frame_Shift_Ins_p.Q116fs|TPRKB_ENST00000409716.2_Frame_Shift_Ins_p.Q155fs			Q9Y3C4	TPRKB_HUMAN	TP53RK binding protein	116					protein catabolic process	cytosol|nucleus	protein kinase binding			lung(2)|ovary(1)|skin(1)	4						TGATTTATTTGTTTTTCTCCCT	0.292													T	73957783	-	T	73957782	7	5	364	1	0	1	1	0	0	0	0	0	16521	1386	48	0	189	0	TPRKB	2	73957782	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	128299	73957782	169241591	1940	25442											
C2orf78	388960	broad.mit.edu	37	chr2	74041293	74041293	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtcctaccaccagtcTctacttctgggatgtattac	10	13	6	12	0	2	0	0	0	2	0	4	1	3	1	3	1	3	1	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74041293T>A	ENST00000409561.1	+	2	908	c.787T>A	c.(787-789)Tct>Act	p.S263T		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	263										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ACCACCAGTCTCTACTTCTGG	0.463													A	74041293	T	A	74041293	3	1	364	1	0	0	0	0	1	0	0	0	2216	1551	54	5	793	5	C2orf78	2	74041293	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83511	74041293	169158080	1941	25443											
C2orf78	388960	broad.mit.edu	37	chr2	74042505	74042505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaataggaaatcaagatccTccactacttcctgtagaaat	15	11	5	10	0	1	2	1	0	0	2	4	3	4	3	3	1	1	1	3	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74042505T>A	ENST00000409561.1	+	3	1276	c.1155T>A	c.(1153-1155)ccT>ccA	p.P385P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	385										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						ATCAAGATCCTCCACTACTTC	0.438													A	74042505	T	A	74042505	2	1	364	1	0	0	0	0	0	0	0	1	2216	1538	54	5		5	C2orf78	2	74042505	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1212	74042505	169156868	1942	25444											
TET3	200424	broad.mit.edu	37	chr2	74274574	74274574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtacttcagagggaGgctcccacgccatcctcgga	7	8	10	16	2	1	1	1	0	0	1	5	3	4	3	5	3	1	2	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274574G>T	ENST00000409262.3	+	1	1125	c.1125G>T	c.(1123-1125)gaG>gaT	p.E375D		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	375							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTCAGAGGGAGGCTCCCACGC	0.662													T	74274574	G	T	74274574	3	4	364	1	0	0	0	0	1	0	0	0	15871	991	35	4	1127	4	TET3	2	74274574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232069	74274574	168924799	1943	25445											
TET3	200424	broad.mit.edu	37	chr2	74274917	74274917	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcttcccacctgtcCgacagattgtcctggaaggg	7	9	10	15	1	1	1	0	0	1	1	4	3	4	2	6	2	1	0	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74274917C>T	ENST00000409262.3	+	1	1468	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	490							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCACCTGTCCGACAGATTGT	0.627													T	74274917	C	T	74274917	4	4	364	1	0	0	0	0	0	1	0	0	15871	644	23	1	1470	1	TET3	2	74274917	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343	74274917	168924456	1944	25446											
TET3	200424	broad.mit.edu	37	chr2	74275219	74275219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatagctttgggcttccCggccccccttctgtgcccat	4	11	11	15	1	1	1	0	0	1	1	2	2	2	1	5	3	2	2	5	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74275219C>T	ENST00000409262.3	+	1	1770	c.1770C>T	c.(1768-1770)ccC>ccT	p.P590P		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	590							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TTGGGCTTCCCGGCCCCCCTT	0.592													T	74275219	C	T	74275219	2	4	364	1	0	0	0	0	0	0	0	1	15871	639	23	1		1	TET3	2	74275219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	302	74275219	168924154	1945	25447											
MTHFD2	10797	broad.mit.edu	37	chr2	74432916	74432916	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagaagagtgggtggcCtcaggcaacaaacggccaca	13	4	15	9	1	1	2	1	0	0	2	1	3	1	2	2	5	2	2	2	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74432916C>A	ENST00000394053.2	+	2	266	c.186C>A	c.(184-186)gcC>gcA	p.A62A	MTHFD2_ENST00000264090.4_Intron|MTHFD2_ENST00000409804.1_Silent_p.A62A|MTHFD2_ENST00000477455.1_3'UTR|MTHFD2_ENST00000409601.1_Silent_p.A62A|MTHFD2_ENST00000394050.3_Intron	NM_006636.3	NP_006627.2	P13995	MTDC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase	62					folic acid-containing compound biosynthetic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	magnesium ion binding|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase (NAD+) activity|methylenetetrahydrofolate dehydrogenase (NADP+) activity|phosphate binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6					NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGTGGGTGGCCTCAGGCAACA	0.537													A	74432916	C	A	74432916	2	1	364	1	0	0	0	0	0	0	0	1	10005	668	24	4		4	MTHFD2	2	74432916	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157697	74432916	168766457	1946	25448											
SLC4A5	57835	broad.mit.edu	37	chr2	74452104	74452104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatccagaagccttcgaaCgatgatgaggcccaggatct	13	7	11	10	2	1	3	0	2	1	1	3	7	2	4	3	2	2	0	3	2	3	1	rs144930405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74452104C>T	ENST00000394019.2	-	28	3506	c.3109G>A	c.(3109-3111)Gtt>Att	p.V1037I	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R977H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.V956I|SLC4A5_ENST00000357822.5_Missense_Mutation_p.V1053I|SLC4A5_ENST00000359484.4_Missense_Mutation_p.V935I|SLC4A5_ENST00000377634.4_Missense_Mutation_p.V1053I|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.V956I|SLC4A5_ENST00000358683.4_Missense_Mutation_p.V935I|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	1053						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGCCTTCGAACGATGATGAGG	0.453													T	74452104	C	T	74452104	3	4	364	1	0	0	0	0	1	0	0	0	14751	536	19	1	268	1	SLC4A5	2	74452104	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19188	74452104	168747269	1947	25449											
SLC4A5	57835	broad.mit.edu	37	chr2	74466478	74466478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccttggtaggaaaatagCggctgaatttgaacttcttc	11	14	9	7	1	1	2	0	2	1	0	2	3	1	3	1	3	3	2	1	3	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74466478C>T	ENST00000394019.2	-	21	2700	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	SLC4A5_ENST00000423644.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000346834.4_Missense_Mutation_p.R768H|SLC4A5_ENST00000357822.5_Missense_Mutation_p.R768H|SLC4A5_ENST00000359484.4_Missense_Mutation_p.R704H|SLC4A5_ENST00000377634.4_Missense_Mutation_p.R768H|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.R768H|SLC4A5_ENST00000358683.4_Missense_Mutation_p.R704H|SLC4A5_ENST00000483195.1_5'UTR	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	768						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						AGGAAAATAGCGGCTGAATTT	0.522													T	74466478	C	T	74466478	3	4	364	1	0	0	0	0	1	0	0	0	14751	768	27	1	1154	1	SLC4A5	2	74466478	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14374	74466478	168732895	1948	25450											
INO80B	83444	broad.mit.edu	37	chr2	74683276	74683276	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcgggacctatcaggAgggttagggggtcaggagga	9	7	17	8	1	2	0	2	0	0	0	3	4	2	4	2	7	0	1	2	7	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74683276A>C	ENST00000233331.7	+	4	511	c.417A>C	c.(415-417)ggA>ggC	p.G139G	INO80B_ENST00000409917.1_Silent_p.G139G|INO80B_ENST00000469849.1_3'UTR	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	139					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						ACCTATCAGGAGGGTTAGGGG	0.517													C	74683276	A	C	74683276	2	2	364	1	0	0	0	0	0	0	0	1	7805	291	11	5		5	INO80B	2	74683276	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	216798	74683276	168516097	1949	25451											
MOGS	7841	broad.mit.edu	37	chr2	74688581	74688581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgtggagtttggcagcccGagcctggtgaggaccctcca	7	7	14	13	2	0	1	0	1	0	0	1	4	1	3	5	4	2	2	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74688581G>A	ENST00000233616.4	-	4	2497	c.2335C>T	c.(2335-2337)Cgg>Tgg	p.R779W	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R673W	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	779					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTGGCAGCCCGAGCCTGGTGA	0.597													A	74688581	G	A	74688581	3	1	364	1	0	0	0	0	1	0	0	0	9773	1057	37	1	182	1	MOGS	2	74688581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5305	74688581	168510792	1950	25452											
MOGS	7841	broad.mit.edu	37	chr2	74689080	74689080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagatgctctgccagccgCgtcagcacacgggcacccag	8	4	11	18	3	2	1	1	0	1	1	2	1	2	1	4	1	4	3	4	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689080C>T	ENST00000233616.4	-	4	1998	c.1836G>A	c.(1834-1836)acG>acA	p.T612T	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Silent_p.T506T	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	612					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CTGCCAGCCGCGTCAGCACAC	0.657													T	74689080	C	T	74689080	2	4	364	1	0	0	0	0	0	0	0	1	9773	755	27	1		1	MOGS	2	74689080	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	499	74689080	168510293	1951	25453											
MOGS	7841	broad.mit.edu	37	chr2	74689222	74689222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggtaaggcagggtccCgtccccgccagcggtaagat	8	7	15	11	3	0	1	0	0	0	1	2	1	2	1	4	5	1	4	4	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689222C>T	ENST00000233616.4	-	4	1856	c.1694G>A	c.(1693-1695)cGg>cAg	p.R565Q	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.R459Q	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	565					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						GGCAGGGTCCCGTCCCCGCCA	0.627													T	74689222	C	T	74689222	3	4	364	1	0	0	0	0	1	0	0	0	9773	652	23	1	823	1	MOGS	2	74689222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142	74689222	168510151	1952	25454											
MOGS	7841	broad.mit.edu	37	chr2	74689915	74689915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgcctgattcaaacacaAactctatggaaatgggaatt	15	10	7	9	0	2	1	1	1	1	0	2	3	2	3	1	2	3	0	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74689915A>G	ENST00000233616.4	-	4	1163	c.1001T>C	c.(1000-1002)tTt>tCt	p.F334S	MOGS_ENST00000462443.1_5'UTR|MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.F228S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	334					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TTCAAACACAAACTCTATGGA	0.562													G	74689915	A	G	74689915	3	3	364	1	0	0	0	0	1	0	0	0	9773	14	1	3	1516	3	MOGS	2	74689915	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	693	74689915	168509458	1953	25455											
CCDC142	84865	broad.mit.edu	37	chr2	74709259	74709259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccccgtcaagaggcggaGcacacgggacgtggggaaag	10	3	16	12	4	1	1	1	0	0	1	2	4	2	4	2	5	1	1	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74709259G>T	ENST00000393965.3	-	1	1102	c.706C>A	c.(706-708)Ctc>Atc	p.L236I	CCDC142_ENST00000471713.1_5'UTR|CCDC142_ENST00000290418.4_Missense_Mutation_p.L236I	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	236										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						AAGAGGCGGAGCACACGGGAC	0.667													T	74709259	G	T	74709259	3	4	364	1	0	0	0	0	1	0	0	0	2802	971	34	4	1561	4	CCDC142	2	74709259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19344	74709259	168490114	1954	25456											
DOK1	1796	broad.mit.edu	37	chr2	74783985	74783985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctcgggtgaaggaggaggGctatgagctcccctacaacc	10	6	14	11	1	0	2	0	2	0	0	2	4	1	4	3	4	4	3	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74783985G>A	ENST00000233668.5	+	5	1859	c.1190G>A	c.(1189-1191)gGc>gAc	p.G397D	DOK1_ENST00000480318.1_3'UTR|DOK1_ENST00000340004.6_3'UTR|DOK1_ENST00000409429.1_Missense_Mutation_p.G258D	NM_001381.3	NP_001372.1	Q99704	DOK1_HUMAN	docking protein 1, 62kDa (downstream of tyrosine kinase 1)	397	Pro-rich.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	cytosol|perinuclear region of cytoplasm	insulin receptor binding			endometrium(3)|large_intestine(2)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAGGAGGAGGGCTATGAGCTC	0.647													A	74783985	G	A	74783985	3	1	364	1	0	0	0	0	1	0	0	0	4735	1203	42	2	1208	2	DOK1	2	74783985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74726	74783985	168415388	1955	25457											
SEMA4F	10505	broad.mit.edu	37	chr2	74902971	74902971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtgcatcctggcccaGgacccagtctgtgcctggag	7	8	13	13	0	2	1	1	0	1	1	3	3	3	3	4	3	2	1	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:74902971G>T	ENST00000357877.2	+	12	1727	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	SEMA4F_ENST00000473350.1_3'UTR|SEMA4F_ENST00000339773.5_Missense_Mutation_p.Q371H	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	526	PSI.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						TCCTGGCCCAGGACCCAGTCT	0.587													T	74902971	G	T	74902971	3	4	364	1	0	0	0	0	1	0	0	0	14128	991	35	4	1624	4	SEMA4F	2	74902971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118986	74902971	168296402	1956	25458											
HK2	3099	broad.mit.edu	37	chr2	75107511	75107511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacagcagtggcttaccGgctggccgatcaacaccgtg	8	7	14	12	3	1	1	1	1	0	0	1	2	1	1	3	4	3	3	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75107511G>A	ENST00000290573.2	+	10	1985	c.1385G>A	c.(1384-1386)cGg>cAg	p.R462Q	HK2_ENST00000409174.1_Missense_Mutation_p.R434Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	462	Regulatory.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GTGGCTTACCGGCTGGCCGAT	0.612													A	75107511	G	A	75107511	3	1	364	1	0	0	0	0	1	0	0	0	7246	1116	39	1	1423	1	HK2	2	75107511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204540	75107511	168091862	1957	25459											
HK2	3099	broad.mit.edu	37	chr2	75113686	75113686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaaggagaagaggggcGgatgtgtgtgaacatggaat	12	7	20	2	1	0	3	0	1	0	2	0	7	0	6	0	7	1	0	0	7	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75113686G>A	ENST00000290573.2	+	15	2705	c.2105G>A	c.(2104-2106)cGg>cAg	p.R702Q	HK2_ENST00000409174.1_Missense_Mutation_p.R674Q	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	702	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity	p.R702L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						GAAGAGGGGCGGATGTGTGTG	0.557													A	75113686	G	A	75113686	3	1	364	1	0	0	0	0	1	0	0	0	7246	1116	39	1	2163	1	HK2	2	75113686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6175	75113686	168085687	1958	25460											
MRPL19	9801	broad.mit.edu	37	chr2	75879388	75879388	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccagagttctatgttggTcagtaagagctgtatgtttt	9	17	10	5	0	2	2	1	0	1	2	3	2	3	2	1	1	1	6	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879388T>C	ENST00000393909.2	+	3	365		c.e3+2		MRPL19_ENST00000358788.6_Splice_Site|MRPL19_ENST00000409374.1_Splice_Site	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19						translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						TCTATGTTGGTCAGTAAGAGC	0.323													C	75879388	T	C	75879388	5	2	364	1	0	0	0	0	0	0	1	0	9860	1681	58	3	352	3	MRPL19	2	75879388	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	765702	75879388	167319985	1959	25461											
MRPL19	9801	broad.mit.edu	37	chr2	75879745	75879745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagatcaggaagaggacttgGagctactttcatccttagga	12	10	12	7	0	2	2	2	0	0	2	3	7	3	6	1	4	2	1	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:75879745G>A	ENST00000393909.2	+	4	462	c.437G>A	c.(436-438)gGa>gAa	p.G146E	MRPL19_ENST00000358788.6_Missense_Mutation_p.G146E|MRPL19_ENST00000409374.1_Missense_Mutation_p.G146E	NM_014763.3	NP_055578.2	P49406	RM19_HUMAN	mitochondrial ribosomal protein L19	146					translation	mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(6)	8						AGAGGACTTGGAGCTACTTTC	0.383													A	75879745	G	A	75879745	3	1	364	1	0	0	0	0	1	0	0	0	9860	1174	41	2	451	2	MRPL19	2	75879745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	357	75879745	167319628	1960	25462											
LRRTM4	80059	broad.mit.edu	37	chr2	77745830	77745830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacgtcaggtttgaagaTggtaggtctagggataatca	11	11	15	4	1	3	3	2	2	1	1	3	4	3	4	0	5	0	2	0	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:77745830T>C	ENST00000409088.3	-	3	1579	c.1165A>G	c.(1165-1167)Atc>Gtc	p.I389V	LRRTM4_ENST00000409884.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409282.1_Missense_Mutation_p.I390V|LRRTM4_ENST00000409093.1_Missense_Mutation_p.I389V|LRRTM4_ENST00000409911.1_Missense_Mutation_p.I390V	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	389						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		GGTTTGAAGATGGTAGGTCTA	0.473													C	77745830	T	C	77745830	3	2	364	1	0	0	0	0	1	0	0	0	9112	1464	51	3	621	3	LRRTM4	2	77745830	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1866085	77745830	165453543	1961	25463											
CTNNA2	1496	broad.mit.edu	37	chr2	80874864	80874864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcttggaagatgaaggCtccagagaagaagccccttg	11	9	13	8	0	1	4	0	1	1	3	2	6	2	5	3	2	1	1	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:80874864C>T	ENST00000466387.1	+	22	3309	c.2585C>T	c.(2584-2586)gCt>gTt	p.A862V	CTNNA2_ENST00000402739.4_Missense_Mutation_p.A910V|CTNNA2_ENST00000343114.3_Missense_Mutation_p.A541V|CTNNA2_ENST00000540488.1_Missense_Mutation_p.A817V|CTNNA2_ENST00000496558.1_Missense_Mutation_p.A862V|CTNNA2_ENST00000361291.4_Missense_Mutation_p.A896V|CTNNA2_ENST00000541047.1_Missense_Mutation_p.A862V			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	910					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						AAGATGAAGGCTCCAGAGAAG	0.493													T	80874864	C	T	80874864	3	4	364	1	0	0	0	0	1	0	0	0	4046	797	28	2	2443	2	CTNNA2	2	80874864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3129034	80874864	162324509	1962	25464											
DNAH6	1768	broad.mit.edu	37	chr2	84804521	84804521	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattaattccatcacctttgCgatgcttagaggtaactata	13	14	6	8	1	1	1	1	0	0	1	2	2	2	1	2	1	3	2	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:84804521C>T	ENST00000389394.3	+	13	2202	c.2065C>T	c.(2065-2067)Cga>Tga	p.R689*	DNAH6_ENST00000237449.6_Nonsense_Mutation_p.R689*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.R689*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	689	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						ATCACCTTTGCGATGCTTAGA	0.333													T	84804521	C	T	84804521	4	4	364	1	0	0	0	0	0	1	0	0	4644	760	27	1	2111	1	DNAH6	2	84804521	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3929657	84804521	158394852	1963	25465											
KCMF1	56888	broad.mit.edu	37	chr2	85262220	85262220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggaaaaatgggctataCggagacatctcttcaagaac	14	10	10	7	1	2	2	1	0	1	2	3	4	2	3	0	3	2	1	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85262220C>T	ENST00000409785.4	+	3	625	c.266C>T	c.(265-267)aCg>aTg	p.T89M		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1							intracellular	ligase activity|zinc ion binding			ovary(3)	3						ATGGGCTATACGGAGACATCT	0.378													T	85262220	C	T	85262220	3	4	364	1	0	0	0	0	1	0	0	0	8058	536	19	1	276	1	KCMF1	2	85262220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	457699	85262220	157937153	1964	25466											
KCMF1	56888	broad.mit.edu	37	chr2	85280333	85280333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaagcgagcgtgcagaccGcagcctgtttgtccaagagc	10	6	14	11	3	0	2	0	0	0	2	1	4	1	3	3	1	5	3	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85280333G>A	ENST00000409785.4	+	7	1306	c.947G>A	c.(946-948)cGc>cAc	p.R316H		NM_020122.4	NP_064507.3	Q9P0J7	KCMF1_HUMAN	potassium channel modulatory factor 1							intracellular	ligase activity|zinc ion binding			ovary(3)	3						CGTGCAGACCGCAGCCTGTTT	0.468													A	85280333	G	A	85280333	3	1	364	1	0	0	0	0	1	0	0	0	8058	1087	38	1	973	1	KCMF1	2	85280333	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18113	85280333	157919040	1965	25467											
RETSAT	54884	broad.mit.edu	37	chr2	85570391	85570391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcttctgtgcccggaTcctagaatcaagattcttaa	9	16	6	10	1	4	2	1	0	3	2	5	3	5	3	2	1	1	0	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85570391T>C	ENST00000295802.4	-	11	1919	c.1807A>G	c.(1807-1809)Atc>Gtc	p.I603V	RETSAT_ENST00000263854.6_3'UTR|RETSAT_ENST00000457495.2_Missense_Mutation_p.I542V	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	603					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGTGCCCGGATCCTAGAATCA	0.522													C	85570391	T	C	85570391	3	2	364	1	0	0	0	0	1	0	0	0	13326	1435	50	3	29	3	RETSAT	2	85570391	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	290058	85570391	157628982	1966	25468											
RETSAT	54884	broad.mit.edu	37	chr2	85571786	85571786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgcaggtcttccttggtgCctcgcaggcagatgaaaaca	10	9	12	10	1	1	2	0	1	1	1	3	3	2	2	2	3	3	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85571786C>T	ENST00000295802.4	-	7	1299	c.1187G>A	c.(1186-1188)gGc>gAc	p.G396D	RETSAT_ENST00000263854.6_Missense_Mutation_p.G396D|RETSAT_ENST00000457495.2_Missense_Mutation_p.G335D|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	396					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TTCCTTGGTGCCTCGCAGGCA	0.577													T	85571786	C	T	85571786	3	4	364	1	0	0	0	0	1	0	0	0	13326	739	26	2	665	2	RETSAT	2	85571786	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1395	85571786	157627587	1967	25469											
RETSAT	54884	broad.mit.edu	37	chr2	85573132	85573132	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgttccccggcagtaggtgTtcataggtgttgaacagtcc	7	11	13	10	2	1	1	1	1	0	0	3	1	3	1	3	3	1	5	3	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573132T>C	ENST00000295802.4	-	6	1195	c.1083A>G	c.(1081-1083)gaA>gaG	p.E361E	RETSAT_ENST00000263854.6_Silent_p.E361E|RETSAT_ENST00000457495.2_Silent_p.E300E|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	361					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	GCAGTAGGTGTTCATAGGTGT	0.582													C	85573132	T	C	85573132	2	2	364	1	0	0	0	0	0	0	0	1	13326	1722	60	3		3	RETSAT	2	85573132	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1346	85573132	157626241	1968	25470											
RETSAT	54884	broad.mit.edu	37	chr2	85573180	85573180	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccacgatggggcaataGatgttcaccagctcatgccc	11	7	11	12	1	2	2	2	0	0	2	2	4	2	2	3	2	2	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85573180G>T	ENST00000295802.4	-	6	1147	c.1035C>A	c.(1033-1035)atC>atA	p.I345I	RETSAT_ENST00000263854.6_Silent_p.I345I|RETSAT_ENST00000457495.2_Silent_p.I284I|RETSAT_ENST00000475624.2_5'UTR	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	345					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGGGGCAATAGATGTTCACCA	0.582													T	85573180	G	T	85573180	2	4	364	1	0	0	0	0	0	0	0	1	13326	932	33	4		4	RETSAT	2	85573180	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48	85573180	157626193	1969	25471											
RETSAT	54884	broad.mit.edu	37	chr2	85577194	85577194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgtagctgagtactgcCtggagctcagaggaggcccc	10	7	14	10	0	1	3	1	1	0	2	1	5	1	5	3	3	4	4	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85577194C>A	ENST00000295802.4	-	4	880	c.768G>T	c.(766-768)caG>caT	p.Q256H	RETSAT_ENST00000263854.6_Missense_Mutation_p.Q256H|RETSAT_ENST00000457495.2_Missense_Mutation_p.Q195H	NM_017750.3	NP_060220.3	Q6NUM9	RETST_HUMAN	retinol saturase (all-trans-retinol 13,14-reductase)	256					retinol metabolic process	endoplasmic reticulum membrane|nuclear outer membrane	all-trans-retinol 13,14-reductase activity|electron carrier activity			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	30					Vitamin A(DB00162)	TGAGTACTGCCTGGAGCTCAG	0.597													A	85577194	C	A	85577194	3	1	364	1	0	0	0	0	1	0	0	0	13326	680	24	4	1096	4	RETSAT	2	85577194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4014	85577194	157622179	1970	25472											
ELMOD3	84173	broad.mit.edu	37	chr2	85617291	85617291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcagaaggtcatcccCgtggtgaacagcttctatgc	9	8	12	12	2	2	2	1	1	1	1	3	2	3	2	2	3	4	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617291C>T	ENST00000315658.7	+	11	1105	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000393852.4_Silent_p.P282P|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567													T	85617291	C	T	85617291	2	4	364	1	0	0	0	0	0	0	0	1	5111	639	23	1		1	ELMOD3	2	85617291	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40097	85617291	157582082	1971	25473											
ELMOD3	84173	broad.mit.edu	37	chr2	85617352	85617352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatgtctggaggacacagCggaagaccatctcagactcg	12	6	11	12	2	2	2	1	0	2	2	4	5	2	5	1	3	1	0	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85617352C>T	ENST00000315658.7	+	11	1166	c.907C>T	c.(907-909)Cgg>Tgg	p.R303W	ELMOD3_ENST00000409344.3_Missense_Mutation_p.R303W|ELMOD3_ENST00000393852.4_Missense_Mutation_p.R303W|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000409890.2_Missense_Mutation_p.R303W|ELMOD3_ENST00000409013.3_Missense_Mutation_p.R303W	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	303	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						GAGGACACAGCGGAAGACCAT	0.562													T	85617352	C	T	85617352	3	4	364	1	0	0	0	0	1	0	0	0	5111	759	27	1	945	1	ELMOD3	2	85617352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	85617352	157582021	1972	25474											
CAPG	822	broad.mit.edu	37	chr2	85628938	85628938	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatgggaaacctcttCtgggccattgtgcagcacta	9	10	12	10	0	2	1	0	0	2	1	2	2	2	2	2	2	4	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85628938C>A	ENST00000263867.4	-	3	415	c.166G>T	c.(166-168)Gaa>Taa	p.E56*	CAPG_ENST00000409724.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409921.1_Nonsense_Mutation_p.E56*|CAPG_ENST00000409670.1_Nonsense_Mutation_p.E56*	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	56					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						GAAACCTCTTCTGGGCCATTG	0.607													A	85628938	C	A	85628938	4	1	364	1	0	0	0	0	0	1	0	0	2647	922	32	4	912	4	CAPG	2	85628938	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11586	85628938	157570435	1973	25475											
MAT2A	4144	broad.mit.edu	37	chr2	85769031	85769031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttggcacacaagctaaatgCcaaactggcagaactacgcc	14	6	8	13	1	0	1	0	0	0	1	0	1	0	1	2	2	5	3	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85769031C>T	ENST00000306434.3	+	5	608	c.485C>T	c.(484-486)gCc>gTc	p.A162V	MAT2A_ENST00000490878.1_3'UTR|MAT2A_ENST00000409017.1_Missense_Mutation_p.A99V	NM_005911.5	NP_005902.1	P31153	METK2_HUMAN	methionine adenosyltransferase II, alpha	162					methylation|xenobiotic metabolic process	cytosol	ATP binding|metal ion binding|methionine adenosyltransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	9					L-Methionine(DB00134)|S-Adenosylmethionine(DB00118)	AAGCTAAATGCCAAACTGGCA	0.418													T	85769031	C	T	85769031	3	4	364	1	0	0	0	0	1	0	0	0	9405	739	26	2	503	2	MAT2A	2	85769031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140093	85769031	157430342	1974	25476											
VAMP8	8673	broad.mit.edu	37	chr2	85808760	85808760	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctggtggaagaacgtgaAgatgattgtccttatctgcg	10	13	12	6	2	2	4	0	2	2	2	3	5	3	5	1	2	2	0	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85808760A>C	ENST00000263864.5	+	3	380	c.224A>C	c.(223-225)aAg>aCg	p.K75T	VAMP8_ENST00000409760.1_3'UTR|VAMP8_ENST00000432071.1_Missense_Mutation_p.K49T	NM_003761.4	NP_003752.2	Q9BV40	VAMP8_HUMAN	vesicle-associated membrane protein 8	75					post-Golgi vesicle-mediated transport	early endosome|integral to membrane|membrane fraction|plasma membrane|secretory granule membrane		p.K75M(1)		breast(1)|endometrium(2)|large_intestine(1)|stomach(2)	6						AAGAACGTGAAGATGATTGTC	0.483													C	85808760	A	C	85808760	3	2	364	1	0	0	0	0	1	0	0	0	17220	72	3	5	234	5	VAMP8	2	85808760	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39729	85808760	157390613	1975	25477											
USP39	10713	broad.mit.edu	37	chr2	85848692	85848692	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgtctggtgtgtggcaaGtactttcaaggtaaataagt	10	13	12	6	0	2	0	1	0	1	0	2	0	2	0	1	3	1	3	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85848692G>A	ENST00000323701.6	+	3	433	c.423G>A	c.(421-423)aaG>aaA	p.K141K	USP39_ENST00000450066.2_Intron|USP39_ENST00000409470.1_Silent_p.K141K|USP39_ENST00000409025.1_Silent_p.K141K|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Silent_p.K141K	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	141					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						TGTGTGGCAAGTACTTTCAAG	0.388													A	85848692	G	A	85848692	2	1	364	1	0	0	0	0	0	0	0	1	17172	1020	36	2		2	USP39	2	85848692	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39932	85848692	157350681	1976	25478											
USP39	10713	broad.mit.edu	37	chr2	85868167	85868167	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgcctccatatctaatCttttgtatcaagagattcac	12	15	5	9	0	4	1	2	0	2	1	5	2	5	1	2	0	1	2	2	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:85868167C>A	ENST00000323701.6	+	10	1363	c.1353C>A	c.(1351-1353)atC>atA	p.I451I	USP39_ENST00000450066.2_Silent_p.I348I|USP39_ENST00000409470.1_Silent_p.I451I|USP39_ENST00000409025.1_Silent_p.I451I|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409766.3_Silent_p.I451I	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	451					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CATATCTAATCTTTTGTATCA	0.353													A	85868167	C	A	85868167	2	1	364	1	0	0	0	0	0	0	0	1	17172	903	32	4		4	USP39	2	85868167	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19475	85868167	157331206	1977	25479											
POLR1A	25885	broad.mit.edu	37	chr2	86254575	86254575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgcttgagctcgaacaGgcctgtcccgcccctgacga	7	7	12	15	3	0	2	0	2	0	0	2	4	1	2	4	2	3	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86254575G>T	ENST00000263857.6	-	34	5512	c.5134C>A	c.(5134-5136)Ctg>Atg	p.L1712M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L1651M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1712					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						AGCTCGAACAGGCCTGTCCCG	0.612													T	86254575	G	T	86254575	3	4	364	1	0	0	0	0	1	0	0	0	12286	991	35	4	32	4	POLR1A	2	86254575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386408	86254575	156944798	1978	25480											
POLR1A	25885	broad.mit.edu	37	chr2	86258711	86258711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgcatgtcttcatcgtcGttctcctcgccctccctctc	2	15	5	19	3	4	0	1	0	3	0	11	0	6	0	4	0	1	2	4	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86258711G>A	ENST00000263857.6	-	30	4698	c.4320C>T	c.(4318-4320)aaC>aaT	p.N1440N	POLR1A_ENST00000409681.1_Silent_p.N1440N			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1440					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						cttcatcgtcgttctcctcgc	0.557													A	86258711	G	A	86258711	2	1	364	1	0	0	0	0	0	0	0	1	12286	1136	40	1		1	POLR1A	2	86258711	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4136	86258711	156940662	1979	25481											
POLR1A	25885	broad.mit.edu	37	chr2	86272844	86272844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttgccagacgccatcaGcgggggtctccgaccttcca	7	8	11	15	3	2	2	1	1	1	1	4	3	3	2	5	2	2	0	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86272844G>T	ENST00000263857.6	-	20	3160	c.2782C>A	c.(2782-2784)Ctg>Atg	p.L928M	POLR1A_ENST00000409681.1_Missense_Mutation_p.L928M			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	928					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GACGCCATCAGCGGGGGTCTC	0.557													T	86272844	G	T	86272844	3	4	364	1	0	0	0	0	1	0	0	0	12286	962	34	4	2440	4	POLR1A	2	86272844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14133	86272844	156926529	1980	25482											
POLR1A	25885	broad.mit.edu	37	chr2	86276317	86276317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtggattcttcaatgataCgttgcctcttgacatctgcc	7	14	10	10	1	4	2	1	2	3	0	4	3	4	3	2	2	3	1	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86276317C>T	ENST00000263857.6	-	17	2819	c.2441G>A	c.(2440-2442)cGt>cAt	p.R814H	POLR1A_ENST00000409681.1_Missense_Mutation_p.R814H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	814					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						TTCAATGATACGTTGCCTCTT	0.547													T	86276317	C	T	86276317	3	4	364	1	0	0	0	0	1	0	0	0	12286	536	19	1	2793	1	POLR1A	2	86276317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3473	86276317	156923056	1981	25483											
POLR1A	25885	broad.mit.edu	37	chr2	86297353	86297353	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagtgtgggctgtcGgttcagtagcagaatgtccc	6	12	14	9	1	2	1	1	0	1	1	4	1	3	1	1	2	2	5	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86297353G>A	ENST00000263857.6	-	13	2032	c.1654C>T	c.(1654-1656)Cga>Tga	p.R552*	POLR1A_ENST00000409681.1_Nonsense_Mutation_p.R552*			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	552					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						GTGGGCTGTCGGTTCAGTAGC	0.582													A	86297353	G	A	86297353	4	1	364	1	0	0	0	0	0	1	0	0	12286	1124	39	1	3596	1	POLR1A	2	86297353	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21036	86297353	156902020	1982	25484											
POLR1A	25885	broad.mit.edu	37	chr2	86315723	86315723	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctggccagctgtcctGtgcaccatggctggaaacgt	6	11	11	13	1	1	0	0	0	1	0	3	1	3	1	4	3	3	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86315723G>A	ENST00000263857.6	-	6	1074	c.696C>T	c.(694-696)caC>caT	p.H232H	POLR1A_ENST00000409681.1_Silent_p.H232H			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	232					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CAGCTGTCCTGTGCACCATGG	0.567													A	86315723	G	A	86315723	2	1	364	1	0	0	0	0	0	0	0	1	12286	1368	48	2		2	POLR1A	2	86315723	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18370	86315723	156883650	1983	25485											
PTCD3	55037	broad.mit.edu	37	chr2	86364603	86364603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttaacagggaagccctaaGtaatctaactgcattgacca	14	10	7	10	0	2	1	0	1	2	0	2	2	2	2	2	1	4	2	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86364603G>T	ENST00000254630.7	+	24	2057	c.1991G>T	c.(1990-1992)aGt>aTt	p.S664I		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	664						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAAGCCCTAAGTAATCTAACT	0.478													T	86364603	G	T	86364603	3	4	364	1	0	0	0	0	1	0	0	0	12814	1029	36	4	2085	4	PTCD3	2	86364603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48880	86364603	156834770	1984	25486											
IMMT	10989	broad.mit.edu	37	chr2	86378642	86378642	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagtagagagcttgtcAgctaagcaaaagagcatgtt	14	10	10	7	0	3	2	3	0	0	2	3	3	3	2	0	0	4	6	0	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86378642A>G	ENST00000410111.3	-	12	1566	c.1179T>C	c.(1177-1179)gcT>gcC	p.A393A	IMMT_ENST00000442664.2_Splice_Site_p.A392A|IMMT_ENST00000409051.2_Splice_Site_p.A346A|IMMT_ENST00000449247.2_Splice_Site_p.A382A|IMMT_ENST00000254636.5_Splice_Site_p.A294A	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	393				SVSDLA -> T (in Ref. 9; AAF73126).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						AGAGCTTGTCAGCTAAGCAAA	0.388													G	86378642	A	G	86378642	5	3	364	1	0	0	0	0	0	0	1	0	7776	202	7	3	1113	3	IMMT	2	86378642	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14039	86378642	156820731	1985	25487											
KDM3A	55818	broad.mit.edu	37	chr2	86701913	86701913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctaggttacaattcaacaAacatggtgtgttgcgggtag	11	11	11	8	1	1	0	1	0	0	0	1	0	1	0	1	3	4	3	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86701913A>G	ENST00000409556.1	+	13	2104	c.1739A>G	c.(1738-1740)aAa>aGa	p.K580R	KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Missense_Mutation_p.K528R|KDM3A_ENST00000312912.5_Missense_Mutation_p.K580R|KDM3A_ENST00000409064.1_Missense_Mutation_p.K580R			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	580					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CAATTCAACAAACATGGTGTG	0.408													G	86701913	A	G	86701913	3	3	364	1	0	0	0	0	1	0	0	0	8184	14	1	3	1781	3	KDM3A	2	86701913	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	323271	86701913	156497460	1986	25488											
KDM3A	55818	broad.mit.edu	37	chr2	86705788	86705788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaaatggggaataaaggCaaactgcccttgttcaaaca	16	7	10	8	1	1	0	1	0	0	0	1	2	1	1	1	3	4	2	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86705788C>T	ENST00000409556.1	+	16	2611	c.2246C>T	c.(2245-2247)gCa>gTa	p.A749V	KDM3A_ENST00000542128.1_Missense_Mutation_p.A697V|KDM3A_ENST00000312912.5_Missense_Mutation_p.A749V|KDM3A_ENST00000409064.1_Missense_Mutation_p.A749V			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	749					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GGAATAAAGGCAAACTGCCCT	0.393													T	86705788	C	T	86705788	3	4	364	1	0	0	0	0	1	0	0	0	8184	710	25	2	2300	2	KDM3A	2	86705788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3875	86705788	156493585	1987	25489											
KDM3A	55818	broad.mit.edu	37	chr2	86719198	86719198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatgcagtgaaagatgcaGttgctatgctgaaagccagt	13	9	11	8	0	0	3	0	2	0	1	0	3	0	3	2	0	5	5	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86719198G>T	ENST00000409556.1	+	27	4287	c.3922G>T	c.(3922-3924)Gtt>Ttt	p.V1308F	KDM3A_ENST00000542128.1_Missense_Mutation_p.V1256F|KDM3A_ENST00000312912.5_Missense_Mutation_p.V1308F|KDM3A_ENST00000409064.1_Missense_Mutation_p.V1308F			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1308					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GAAAGATGCAGTTGCTATGCT	0.378													T	86719198	G	T	86719198	3	4	364	1	0	0	0	0	1	0	0	0	8184	1029	36	4	4020	4	KDM3A	2	86719198	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13410	86719198	156480175	1988	25490											
RNF103	7844	broad.mit.edu	37	chr2	86831491	86831491	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaatcgccacattggtaaGtttttaatataatcagttgg	13	16	7	5	1	1	0	1	0	0	0	2	0	1	0	1	2	0	3	1	2	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86831491G>A	ENST00000237455.4	-	4	2501	c.1533C>T	c.(1531-1533)aaC>aaT	p.N511N	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|CHMP3_ENST00000439940.2_Intron|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	511					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						ACATTGGTAAGTTTTTAATAT	0.433													A	86831491	G	A	86831491	2	1	364	1	0	0	0	0	0	0	0	1	13514	1020	36	2		2	RNF103	2	86831491	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112293	86831491	156367882	1989	25491											
RMND5A	64795	broad.mit.edu	37	chr2	86979116	86979116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggtggagcacttctttcGacaaggaatgctggatgtgg	9	11	15	6	1	1	0	0	0	1	0	2	5	1	3	0	5	2	2	0	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86979116G>A	ENST00000283632.4	+	3	878	c.383G>A	c.(382-384)cGa>cAa	p.R128Q		NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	128	LisH.									kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						CACTTCTTTCGACAAGGAATG	0.473													A	86979116	G	A	86979116	3	1	364	1	0	0	0	0	1	0	0	0	13488	1058	37	1	393	1	RMND5A	2	86979116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147625	86979116	156220257	1990	25492											
RMND5A	64795	broad.mit.edu	37	chr2	86997171	86997171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcaggttgtgtggcgctgCcagctttaattaacatcaaa	11	11	10	9	1	1	0	1	0	0	0	1	0	1	0	1	2	4	4	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:86997171C>T	ENST00000283632.4	+	7	1375	c.880C>T	c.(880-882)Cca>Tca	p.P294S	RMND5A_ENST00000472843.1_3'UTR	NM_022780.3	NP_073617.1	Q9H871	RMD5A_HUMAN	required for meiotic nuclear division 5 homolog A (S. cerevisiae)	294										kidney(1)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	17						TGTGGCGCTGCCAGCTTTAAT	0.488													T	86997171	C	T	86997171	3	4	364	1	0	0	0	0	1	0	0	0	13488	739	26	2	906	2	RMND5A	2	86997171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18055	86997171	156202202	1991	25493											
SMYD1	150572	broad.mit.edu	37	chr2	88387390	88387390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccacaggctggcggcGcgcatcatgtggcgggtgga	5	7	16	13	4	1	0	1	0	0	0	2	1	2	1	2	6	0	2	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607													A	88387390	G	A	88387390	2	1	364	1	0	0	0	0	0	0	0	1	14915	1074	38	1		1	SMYD1	2	88387390	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1390219	88387390	154811983	1992	25494											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874582	88874582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagccagaatcttcaaataCtattgaagaggaggttctct	14	11	8	8	0	3	3	1	1	2	2	4	4	3	4	1	2	2	1	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:88874582C>A	ENST00000303236.3	-	13	2720	c.2419G>T	c.(2419-2421)Gta>Tta	p.V807L	EIF2AK3_ENST00000470706.1_5'UTR|AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000419748.1_Missense_Mutation_p.V656L	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	807	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						TCTTCAAATACTATTGAAGAG	0.413													A	88874582	C	A	88874582	3	1	364	1	0	0	0	0	1	0	0	0	5037	565	20	4	951	4	EIF2AK3	2	88874582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	487192	88874582	154324791	1993	25495											
MRPS5	64969	broad.mit.edu	37	chr2	95753150	95753150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagagcgcttcattccCtgtgcagtcttcacatcttc	8	12	6	15	1	4	1	2	0	2	1	6	1	5	1	1	0	2	2	1	0	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95753150C>A	ENST00000272418.2	-	12	1453	c.1245G>T	c.(1243-1245)caG>caT	p.Q415H		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	415					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GCTTCATTCCCTGTGCAGTCT	0.567													A	95753150	C	A	95753150	3	1	364	1	0	0	0	0	1	0	0	0	9922	680	24	4	51	4	MRPS5	2	95753150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6878568	95753150	147446223	1994	25496											
MRPS5	64969	broad.mit.edu	37	chr2	95756194	95756194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaatggacccagagacCttggcatacatgtctttgat	12	13	8	8	0	1	2	0	1	1	1	1	4	1	3	2	2	1	1	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95756194C>A	ENST00000272418.2	-	11	1213	c.1005G>T	c.(1003-1005)aaG>aaT	p.K335N		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	335					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ACCCAGAGACCTTGGCATACA	0.542													A	95756194	C	A	95756194	3	1	364	1	0	0	0	0	1	0	0	0	9922	680	24	4	295	4	MRPS5	2	95756194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3044	95756194	147443179	1995	25497											
MRPS5	64969	broad.mit.edu	37	chr2	95775727	95775728	+	Frame_Shift_Ins	INS	-	-	T																															ttagttcttttgcctcttccINStttttttgctccagcaccag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95775727_95775728insT	ENST00000272418.2	-	4	544_545	c.336_337insA	c.(334-339)aaaggafs	p.G113fs		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	113					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TTGCCTCTTCCTTTTTTTGCTC	0.381													T	95775728	-	T	95775727	7	5	364	1	0	1	1	0	0	0	0	0	9922	690	24	0	991	0	MRPS5	2	95775727	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	19533	95775727	147423646	1996	25498											
ZNF2	7549	broad.mit.edu	37	chr2	95843352	95843352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctataacagcattgtgtcatTgggtaaggggagcctccatg	10	11	12	8	0	1	0	1	0	0	0	2	1	2	1	2	3	3	2	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95843352T>C	ENST00000398107.2	+	2	554	c.32T>C	c.(31-33)tTg>tCg	p.L11S	ZNF2_ENST00000295210.6_Missense_Mutation_p.L53S|ZNF2_ENST00000425369.1_Missense_Mutation_p.L11S|ZNF2_ENST00000453539.2_Missense_Mutation_p.L53S|ZNF2_ENST00000340539.5_Missense_Mutation_p.L53S	NM_001017396.1	NP_001017396	Q9BSG1	ZNF2_HUMAN	zinc finger protein 2	53				MAAVSPTTRCQ -> RGAVFPGPEHSVPE (in Ref. 3; CAB52138).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	12		Ovarian(717;0.00768)		READ - Rectum adenocarcinoma(193;0.0222)		ATTGTGTCATTGGGTAAGGGG	0.517													C	95843352	T	C	95843352	3	2	364	1	0	0	0	0	1	0	0	0	17861	1821	63	3	164	3	ZNF2	2	95843352	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	67625	95843352	147356021	1997	25499											
PROM2	150696	broad.mit.edu	37	chr2	95940258	95940258	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtggagagagggacagagGctggagaaggatgtatggcc	11	6	19	5	0	0	3	0	0	0	3	0	8	0	6	1	6	0	2	1	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95940258G>A	ENST00000317620.9	+	0	58				PROM2_ENST00000542147.1_De_novo_Start_InFrame|PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000403131.2_De_novo_Start_InFrame|PROM2_ENST00000317668.4_De_novo_Start_InFrame	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2							apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						AGGGACAGAGGCTGGAGAAGG	0.607													A	95940258	G	A	95940258	1	1	364	1	0	0	0	0	0	0	0	0	12642	1218	42	2		2	PROM2	2	95940258	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96906	95940258	147259115	1998	25500											
PROM2	150696	broad.mit.edu	37	chr2	95941712	95941712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctacgtggtatgcgCtgtgatcgcgggcctctacc	4	9	16	12	5	1	1	0	1	1	0	2	1	1	1	2	4	3	3	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95941712C>A	ENST00000317620.9	+	3	462	c.329C>A	c.(328-330)gCt>gAt	p.A110D	PROM2_ENST00000542147.1_Missense_Mutation_p.A110D|PROM2_ENST00000463580.1_Intron|PROM2_ENST00000403131.2_Missense_Mutation_p.A110D|PROM2_ENST00000317668.4_Missense_Mutation_p.A110D	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	110						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTGGTATGCGCTGTGATCGCG	0.692													A	95941712	C	A	95941712	3	1	364	1	0	0	0	0	1	0	0	0	12642	797	28	4	339	4	PROM2	2	95941712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1454	95941712	147257661	1999	25501											
PROM2	150696	broad.mit.edu	37	chr2	95944853	95944853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtggaggagagcagccGcccctacctgcaggaggtgc	8	4	18	11	1	0	1	0	0	0	1	0	5	0	4	4	6	5	2	4	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95944853G>A	ENST00000317620.9	+	10	1368	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	PROM2_ENST00000542147.1_Missense_Mutation_p.R412H|PROM2_ENST00000403131.2_Missense_Mutation_p.R412H|PROM2_ENST00000317668.4_Missense_Mutation_p.R412H	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	412						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GAGAGCAGCCGCCCCTACCTG	0.682													A	95944853	G	A	95944853	3	1	364	1	0	0	0	0	1	0	0	0	12642	1087	38	1	1273	1	PROM2	2	95944853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3141	95944853	147254520	2000	25502											
PROM2	150696	broad.mit.edu	37	chr2	95947042	95947042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatcctcctggtgttcGccaccttcctggtgggtggc	2	12	11	16	1	1	0	1	0	0	0	5	0	4	0	6	4	0	1	6	4	0	2	rs142421342	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95947042G>A	ENST00000317620.9	+	12	1613	c.1480G>A	c.(1480-1482)Gcc>Acc	p.A494T	PROM2_ENST00000542147.1_Missense_Mutation_p.A494T|PROM2_ENST00000403131.2_Missense_Mutation_p.A494T|PROM2_ENST00000317668.4_Missense_Mutation_p.A494T	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	494						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGTGTTCGCCACCTTCCT	0.642													A	95947042	G	A	95947042	3	1	364	1	0	0	0	0	1	0	0	0	12642	1087	38	1	1526	1	PROM2	2	95947042	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2189	95947042	147252331	2001	25503											
PROM2	150696	broad.mit.edu	37	chr2	95950734	95950734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagtataccaacaagctacgGcaggagttgcagagcctgaa	14	6	11	10	1	0	2	0	1	0	1	0	3	0	3	2	2	6	5	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95950734G>A	ENST00000317620.9	+	15	1879	c.1746G>A	c.(1744-1746)cgG>cgA	p.R582R	PROM2_ENST00000542147.1_Intron|PROM2_ENST00000403131.2_Silent_p.R582R|PROM2_ENST00000317668.4_Silent_p.R582R	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	582						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						ACAAGCTACGGCAGGAGTTGC	0.632													A	95950734	G	A	95950734	2	1	364	1	0	0	0	0	0	0	0	1	12642	1190	42	2		2	PROM2	2	95950734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3692	95950734	147248639	2002	25504											
PROM2	150696	broad.mit.edu	37	chr2	95953982	95953982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcagcgcattgccacctgCcagcccctctccggagccct	6	7	8	20	2	2	0	1	0	1	0	3	1	2	1	7	1	5	1	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:95953982C>T	ENST00000317620.9	+	21	2401	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	PROM2_ENST00000542147.1_Silent_p.C707C|PROM2_ENST00000403131.2_Silent_p.C756C|PROM2_ENST00000317668.4_Silent_p.C756C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	756						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						TTGCCACCTGCCAGCCCCTCT	0.607													T	95953982	C	T	95953982	2	4	364	1	0	0	0	0	0	0	0	1	12642	747	26	2		2	PROM2	2	95953982	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3248	95953982	147245391	2003	25505											
FAHD2A	51011	broad.mit.edu	37	chr2	96078450	96078450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttttacccaggggatGtcatcctaactgggaccccc	8	11	8	14	0	1	0	1	0	0	0	2	2	2	2	5	3	3	0	5	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96078450G>A	ENST00000233379.4	+	7	973	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	FAHD2A_ENST00000447036.1_Missense_Mutation_p.V274I	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	274							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						CCCAGGGGATGTCATCCTAAC	0.557													A	96078450	G	A	96078450	3	1	364	1	0	0	0	0	1	0	0	0	5418	1377	48	2	842	2	FAHD2A	2	96078450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124468	96078450	147120923	2004	25506											
ASTL	431705	broad.mit.edu	37	chr2	96795662	96795662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgctggccgatgtggaCactgggggcccaaagtggtg	7	7	16	11	2	0	0	0	0	0	0	1	2	0	1	3	5	0	1	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96795662C>T	ENST00000342380.2	-	8	774	c.775G>A	c.(775-777)Gtc>Atc	p.V259I		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	259					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCGATGTGGACACTGGGGGCC	0.667													T	96795662	C	T	96795662	3	4	364	1	0	0	0	0	1	0	0	0	1068	478	17	2	527	2	ASTL	2	96795662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	717212	96795662	146403711	2005	25507											
ASTL	431705	broad.mit.edu	37	chr2	96798360	96798360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgccagaagcccagcacatGcatgagctcatgaaggacaa	14	5	11	11	0	1	3	1	2	0	1	1	4	1	4	2	1	5	3	2	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96798360G>A	ENST00000342380.2	-	6	555	c.556C>T	c.(556-558)Cat>Tat	p.H186Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	186					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CCCAGCACATGCATGAGCTCA	0.642													A	96798360	G	A	96798360	3	1	364	1	0	0	0	0	1	0	0	0	1068	1319	46	2	754	2	ASTL	2	96798360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2698	96798360	146401013	2006	25508											
STARD7	56910	broad.mit.edu	37	chr2	96858172	96858172	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgaccctgacgaattCtggagactctggcacactcg	9	10	10	12	2	3	4	0	3	3	1	4	6	3	4	1	2	0	1	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96858172C>A	ENST00000337288.5	-	6	1161	c.778G>T	c.(778-780)Gaa>Taa	p.E260*	STARD7_ENST00000462501.1_5'UTR	NM_020151.3	NP_064536.2	Q9NQZ5	STAR7_HUMAN	StAR-related lipid transfer (START) domain containing 7	260	START.					mitochondrion				endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|stomach(2)	14						CTGACGAATTCTGGAGACTCT	0.428													A	96858172	C	A	96858172	4	1	364	1	0	0	0	0	0	1	0	0	15358	922	32	4	346	4	STARD7	2	96858172	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59812	96858172	146341201	2007	25509											
SNRNP200	23020	broad.mit.edu	37	chr2	96953207	96953207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgattcaggtcgtacagacGctcaaaggggaaattcttct	12	11	10	8	2	4	2	2	1	2	1	5	3	4	3	0	3	1	2	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96953207G>A	ENST00000323853.5	-	26	3531	c.3454C>T	c.(3454-3456)Cgt>Tgt	p.R1152C	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	1152	SEC63 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						TCGTACAGACGCTCAAAGGGG	0.512													A	96953207	G	A	96953207	3	1	364	1	0	0	0	0	1	0	0	0	14946	1087	38	1	3036	1	SNRNP200	2	96953207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95035	96953207	146246166	2008	25510											
SNRNP200	23020	broad.mit.edu	37	chr2	96956538	96956538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaccccaagctagagttgCtgtggaaactaaaacctaca	15	7	7	12	0	0	1	0	0	0	1	0	2	0	2	3	1	5	3	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:96956538C>A	ENST00000323853.5	-	19	2514	c.2437G>T	c.(2437-2439)Gca>Tca	p.A813S	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	813	Helicase C-terminal 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GCTAGAGTTGCTGTGGAAACT	0.507													A	96956538	C	A	96956538	3	1	364	1	0	0	0	0	1	0	0	0	14946	797	28	4	4081	4	SNRNP200	2	96956538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3331	96956538	146242835	2009	25511											
NCAPH	23397	broad.mit.edu	37	chr2	97009879	97009879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaacaaccaaaaaggCtgtaaagccaaagaagaagc	21	3	10	7	0	0	2	0	0	0	2	0	3	0	3	2	2	4	2	2	2	10	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97009879C>A	ENST00000455200.1	+	6	894	c.599C>A	c.(598-600)gCt>gAt	p.A200D	NCAPH_ENST00000427946.1_Missense_Mutation_p.A75D|NCAPH_ENST00000240423.4_Missense_Mutation_p.A211D			Q15003	CND2_HUMAN	non-SMC condensin I complex, subunit H	211					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|microtubule cytoskeleton|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(717;0.0221)				ACCAAAAAGGCTGTAAAGCCA	0.418													A	97009879	C	A	97009879	3	1	364	1	0	0	0	0	1	0	0	0	10285	797	28	4	654	4	NCAPH	2	97009879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53341	97009879	146189494	2010	25512											
ARID5A	10865	broad.mit.edu	37	chr2	97217973	97217973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgccacagactttgcccgGcctcatctgcctggcacgca	6	8	9	18	3	2	1	1	0	1	1	3	1	3	1	5	2	2	2	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97217973G>A	ENST00000454558.2	+	7	2681	c.1504G>A	c.(1504-1506)Gcc>Acc	p.A502T	ARID5A_ENST00000357485.3_Missense_Mutation_p.A570T			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	570					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTTTGCCCGGCCTCATCTGC	0.637													A	97217973	G	A	97217973	3	1	364	1	0	0	0	0	1	0	0	0	924	1203	42	2	1734	2	ARID5A	2	97217973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208094	97217973	145981400	2011	25513											
FER1L5	90342	broad.mit.edu	37	chr2	97369334	97369334	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccgggcgaggccagtcGgaacccaaccagtaccccac	10	2	11	18	3	0	0	0	0	0	0	1	2	0	1	7	3	4	1	7	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97369334G>A	ENST00000457909.1	+	0	5269							A0AVI2	FR1L5_HUMAN	fer-1-like 5 (C. elegans)							integral to membrane		p.S1958S(1)		NS(1)|autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(9)|large_intestine(9)|lung(6)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	38						GAGGCCAGTCGGAACCCAACC	0.567													A	97369334	G	A	97369334	1	1	364	0	1	0	0	0	0	0	0	0	5863	1103	39	1		1	FER1L5	2	97369334	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151361	97369334	145830039	2012	25514											
CNNM4	26504	broad.mit.edu	37	chr2	97427600	97427600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggggagatcctacctcaGgccctgtgctcccgacatgg	6	10	12	13	1	1	1	1	0	0	1	3	3	3	1	4	4	2	1	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97427600G>T	ENST00000377075.2	+	1	962	c.864G>T	c.(862-864)caG>caT	p.Q288H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	288	DUF21.				biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						TCCTACCTCAGGCCCTGTGCT	0.557													T	97427600	G	T	97427600	3	4	364	1	0	0	0	0	1	0	0	0	3646	991	35	4	866	4	CNNM4	2	97427600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58266	97427600	145771773	2013	25515											
CNNM4	26504	broad.mit.edu	37	chr2	97474383	97474383	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtctcaactgcagcaacCttggcaggcagcagcaacca	12	5	10	14	1	1	0	1	0	1	0	2	1	1	0	2	2	7	6	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97474383C>A	ENST00000377075.2	+	6	2132	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	CNNM4_ENST00000496186.1_3'UTR|CNNM4_ENST00000540067.1_Silent_p.T165T	NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	678					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						CTGCAGCAACCTTGGCAGGCA	0.607													A	97474383	C	A	97474383	2	1	364	1	0	0	0	0	0	0	0	1	3646	668	24	4		4	CNNM4	2	97474383	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46783	97474383	145724990	2014	25516											
CNNM3	26505	broad.mit.edu	37	chr2	97494834	97494834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttattccaggcagccaGaccaggctccttggtgagaa	10	8	12	11	0	0	2	0	1	0	2	2	3	2	2	4	4	1	3	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494834G>T	ENST00000305510.3	+	7	2050	c.2022G>T	c.(2020-2022)caG>caT	p.Q674H	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Missense_Mutation_p.Q626H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	674					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CAGGCAGCCAGACCAGGCTCC	0.597													T	97494834	G	T	97494834	3	4	364	1	0	0	0	0	1	0	0	0	3645	933	33	4	2048	4	CNNM3	2	97494834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20451	97494834	145704539	2015	25517											
CNNM3	26505	broad.mit.edu	37	chr2	97494867	97494867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaagaccaccacagcGgcaggtgagtgccaagtggt	11	5	16	9	1	0	3	0	2	0	2	0	4	0	3	3	4	2	1	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:97494867G>A	ENST00000305510.3	+	7	2083	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000480035.1_3'UTR|CNNM3_ENST00000377060.3_Silent_p.A637A	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	685					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						CCACCACAGCGGCAGGTGAGT	0.622													A	97494867	G	A	97494867	2	1	364	1	0	0	0	0	0	0	0	1	3645	1103	39	1		1	CNNM3	2	97494867	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33	97494867	145704506	2016	25518											
ZAP70	7535	broad.mit.edu	37	chr2	98351726	98351726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcaggaagcagatcgacGtggccatcaaggtgctgaag	11	5	16	9	3	1	2	1	1	0	1	2	4	1	3	1	4	2	3	1	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98351726G>A	ENST00000264972.5	+	10	1311	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M	ZAP70_ENST00000442208.1_Missense_Mutation_p.V240M|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.V59M	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	366	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GCAGATCGACGTGGCCATCAA	0.662													A	98351726	G	A	98351726	3	1	364	1	0	0	0	0	1	0	0	0	17616	1145	40	1	1126	1	ZAP70	2	98351726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	856859	98351726	144847647	2017	25519											
ZAP70	7535	broad.mit.edu	37	chr2	98354296	98354296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaagttctccagccgcaGcgatgtctggagctatgggg	7	8	14	12	3	2	0	0	0	2	0	3	2	2	1	3	3	3	4	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98354296G>T	ENST00000264972.5	+	12	1774	c.1559G>T	c.(1558-1560)aGc>aTc	p.S520I	ZAP70_ENST00000442208.1_Missense_Mutation_p.S394I|ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.S213I	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	520	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						TCCAGCCGCAGCGATGTCTGG	0.652													T	98354296	G	T	98354296	3	4	364	1	0	0	0	0	1	0	0	0	17616	971	34	4	1597	4	ZAP70	2	98354296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2570	98354296	144845077	2018	25520											
TMEM131	23505	broad.mit.edu	37	chr2	98375414	98375414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaggactgggatctgtcGctggcgactcccaaaggtat	10	8	14	9	2	1	0	0	0	1	0	3	4	2	3	1	5	0	2	1	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375414G>A	ENST00000186436.5	-	40	5537	c.5309C>T	c.(5308-5310)gCg>gTg	p.A1770V		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1770	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGGATCTGTCGCTGGCGACTC	0.592													A	98375414	G	A	98375414	3	1	364	1	0	0	0	0	1	0	0	0	16144	1087	38	1	350	1	TMEM131	2	98375414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21118	98375414	144823959	2019	25521											
TMEM131	23505	broad.mit.edu	37	chr2	98375500	98375500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcacgatcgagataatccGagtttgctgaaaacttctgg	11	12	10	8	3	1	2	0	1	1	1	3	5	2	2	1	1	3	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98375500G>A	ENST00000186436.5	-	40	5451	c.5223C>T	c.(5221-5223)ctC>ctT	p.L1741L		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1741	Ser-rich.					integral to membrane		p.L1628L(1)|p.L1741L(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GAGATAATCCGAGTTTGCTGA	0.463													A	98375500	G	A	98375500	2	1	364	1	0	0	0	0	0	0	0	1	16144	1045	37	1		1	TMEM131	2	98375500	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86	98375500	144823873	2020	25522											
TMEM131	23505	broad.mit.edu	37	chr2	98383045	98383045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttactttccaaagggggaGtatatggtagttctaatgaa	12	13	11	5	0	1	1	0	1	1	0	2	2	2	2	1	3	1	4	1	3	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98383045G>T	ENST00000186436.5	-	34	4697	c.4469C>A	c.(4468-4470)aCt>aAt	p.T1490N		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1490						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CAAAGGGGGAGTATATGGTAG	0.383													T	98383045	G	T	98383045	3	4	364	1	0	0	0	0	1	0	0	0	16144	1029	36	4	1214	4	TMEM131	2	98383045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7545	98383045	144816328	2021	25523											
TMEM131	23505	broad.mit.edu	37	chr2	98409946	98409946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcctcaaaggatagccGccttcgaaatggctcccata	11	7	10	13	3	1	0	1	0	0	0	3	3	2	1	4	3	1	1	4	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98409946G>A	ENST00000186436.5	-	30	3685	c.3457C>T	c.(3457-3459)Cgg>Tgg	p.R1153W		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1153						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AAGGATAGCCGCCTTCGAAAT	0.453													A	98409946	G	A	98409946	3	1	364	1	0	0	0	0	1	0	0	0	16144	1086	38	1	2242	1	TMEM131	2	98409946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26901	98409946	144789427	2022	25524											
VWA3B	200403	broad.mit.edu	37	chr2	98736143	98736143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattttggcggcattctggaGggggagcttgatctgtgccg	5	12	17	7	2	2	1	0	1	2	0	2	4	2	3	1	5	2	2	1	5	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98736143G>T	ENST00000477737.1	+	4	663	c.459G>T	c.(457-459)gaG>gaT	p.E153D	VWA3B_ENST00000435344.1_Missense_Mutation_p.E153D|VWA3B_ENST00000451075.2_Intron	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	153										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						GCATTCTGGAGGGGGAGCTTG	0.522													T	98736143	G	T	98736143	3	4	364	1	0	0	0	0	1	0	0	0	17343	991	35	4	469	4	VWA3B	2	98736143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326197	98736143	144463230	2023	25525											
VWA3B	200403	broad.mit.edu	37	chr2	98834390	98834390	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaattacaatgatgagAttgcaaacaggtttttgaaa	15	13	7	6	0	1	3	1	3	0	1	1	4	1	3	1	1	3	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98834390A>C	ENST00000477737.1	+	14	2122	c.1918A>C	c.(1918-1920)Att>Ctt	p.I640L		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	640	VWFA.									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						CAATGATGAGATTGCAAACAG	0.403													C	98834390	A	C	98834390	3	2	364	1	0	0	0	0	1	0	0	0	17343	333	12	5	1968	5	VWA3B	2	98834390	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	98247	98834390	144364983	2024	25526											
VWA3B	200403	broad.mit.edu	37	chr2	98852926	98852926	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgacgcgagaaggaagccaGgtttatgaccacgagtgagt	12	7	15	7	3	0	4	0	3	0	1	0	7	0	5	2	2	1	1	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98852926G>T	ENST00000477737.1	+	18	2706	c.2502G>T	c.(2500-2502)caG>caT	p.Q834H		NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	834										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						AAGGAAGCCAGGTTTATGACC	0.433													T	98852926	G	T	98852926	3	4	364	1	0	0	0	0	1	0	0	0	17343	991	35	4	2568	4	VWA3B	2	98852926	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18536	98852926	144346447	2025	25527											
VWA3B	200403	broad.mit.edu	37	chr2	98928714	98928714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctaggactcagcagccacGccatcattgccacacctcca	10	7	7	17	1	3	0	2	0	1	0	4	1	4	1	5	1	3	1	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98928714G>A	ENST00000477737.1	+	28	3991	c.3787G>A	c.(3787-3789)Gcc>Acc	p.A1263T	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1263										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						CAGCAGCCACGCCATCATTGC	0.597													A	98928714	G	A	98928714	3	1	364	1	0	0	0	0	1	0	0	0	17343	1087	38	1	3893	1	VWA3B	2	98928714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75788	98928714	144270659	2026	25528											
CNGA3	1261	broad.mit.edu	37	chr2	98999890	98999890	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacactaacaccagcaaCaacacggaggaggagtaagt	17	4	10	10	1	0	0	0	0	0	0	0	3	0	3	1	3	6	3	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:98999890C>T	ENST00000393504.1	+	5	852	c.435C>T	c.(433-435)aaC>aaT	p.N145N	CNGA3_ENST00000409937.1_Silent_p.N149N|CNGA3_ENST00000272602.2_Silent_p.N145N|CNGA3_ENST00000436404.2_Intron	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	145					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						ACACCAGCAACAACACGGAGG	0.582													T	98999890	C	T	98999890	2	4	364	1	0	0	0	0	0	0	0	1	3629	477	17	2		2	CNGA3	2	98999890	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71176	98999890	144199483	2027	25529											
CNGA3	1261	broad.mit.edu	37	chr2	99013275	99013275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgatggcagctacttcGgggagatcagcattctgaac	10	9	12	10	2	3	2	2	1	1	1	4	4	3	2	0	3	5	3	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99013275G>A	ENST00000393504.1	+	8	2059	c.1642G>A	c.(1642-1644)Ggg>Agg	p.G548R	CNGA3_ENST00000409937.1_Missense_Mutation_p.G552R|CNGA3_ENST00000272602.2_Missense_Mutation_p.G548R|CNGA3_ENST00000436404.2_Missense_Mutation_p.G530R	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	548			G -> R (in ACHM2).		signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						CAGCTACTTCGGGGAGATCAG	0.562													A	99013275	G	A	99013275	3	1	364	1	0	0	0	0	1	0	0	0	3629	1116	39	1	1668	1	CNGA3	2	99013275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13385	99013275	144186098	2028	25530											
INPP4A	3631	broad.mit.edu	37	chr2	99182579	99182579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggcatgctgctgcgagtGcagcccgtcctcttcaacgt	6	10	12	13	3	2	0	1	0	1	0	3	1	3	0	2	1	6	4	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99182579G>A	ENST00000409016.4	+	22	2662	c.2265G>A	c.(2263-2265)gtG>gtA	p.V755V	INPP4A_ENST00000545415.1_Silent_p.V755V|INPP4A_ENST00000409851.3_Silent_p.V789V|INPP4A_ENST00000523221.1_Silent_p.V794V|INPP4A_ENST00000409463.1_Silent_p.V123V|INPP4A_ENST00000409540.3_Silent_p.V755V|INPP4A_ENST00000467042.1_3'UTR|INPP4A_ENST00000074304.5_Silent_p.V794V			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa						signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						TGCTGCGAGTGCAGCCCGTCC	0.667													A	99182579	G	A	99182579	2	1	364	1	0	0	0	0	0	0	0	1	7810	1306	46	2		2	INPP4A	2	99182579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169304	99182579	144016794	2029	25531											
MRPL30	51263	broad.mit.edu	37	chr2	99811658	99811658	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagcatttgataaggtttgTtgtttcttctcagctctttt	7	21	7	6	0	3	1	1	1	3	0	4	1	3	1	0	1	2	5	0	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:99811658T>G	ENST00000410042.1	+	6	566	c.359T>G	c.(358-360)gTt>gGt	p.V120G	C2orf15_ENST00000512183.2_Intron|MRPL30_ENST00000338148.3_Intron|MRPL30_ENST00000465432.1_Intron			Q8TCC3	RM30_HUMAN	mitochondrial ribosomal protein L30	0					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10						ATAAGGTTTGTTGTTTCTTCT	0.303													G	99811658	T	G	99811658	3	3	364	1	0	0	0	0	1	0	0	0	9870	1740	60	5		5	MRPL30	2	99811658	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	629079	99811658	143387715	2030	25532											
EIF5B	9669	broad.mit.edu	37	chr2	100013244	100013244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatagcagtatttccctgCaagataaaaatcctccctca	14	10	4	13	0	1	1	1	0	0	1	4	1	4	1	3	0	2	3	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100013244C>T	ENST00000289371.6	+	22	3478	c.3276C>T	c.(3274-3276)tgC>tgT	p.C1092C		NM_015904.3	NP_056988.3	O60841	IF2P_HUMAN	eukaryotic translation initiation factor 5B						regulation of translational initiation	cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TATTTCCCTGCAAGATAAAAA	0.408													T	100013244	C	T	100013244	2	4	364	1	0	0	0	0	0	0	0	1	5085	718	25	2		2	EIF5B	2	100013244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201586	100013244	143186129	2031	25533											
AFF3	3899	broad.mit.edu	37	chr2	100210419	100210419	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgttctccgcgggcgcacaGggcactgcgggtggcggggc	3	5	20	13	6	1	0	0	0	1	0	2	0	1	0	1	6	1	3	1	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210419G>T	ENST00000409236.2	-	13	1816	c.1704C>A	c.(1702-1704)ccC>ccA	p.P568P	AFF3_ENST00000317233.4_Silent_p.P568P|AFF3_ENST00000356421.2_Silent_p.P593P|AFF3_ENST00000409579.1_Silent_p.P593P			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGGGCGCACAGGGCACTGCGG	0.751													T	100210419	G	T	100210419	2	4	364	1	0	0	0	0	0	0	0	1	358	987	35	4		4	AFF3	2	100210419	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197175	100210419	142988954	2032	25534											
AFF3	3899	broad.mit.edu	37	chr2	100210453	100210453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggcggctgcgctcaccGccacggccacggccgcgggc	3	2	18	18	8	1	0	1	0	0	0	1	0	1	0	4	6	1	2	4	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:100210453G>A	ENST00000409236.2	-	13	1782	c.1670C>T	c.(1669-1671)gCg>gTg	p.A557V	AFF3_ENST00000317233.4_Missense_Mutation_p.A557V|AFF3_ENST00000356421.2_Missense_Mutation_p.A582V|AFF3_ENST00000409579.1_Missense_Mutation_p.A582V			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						TGCGCTCACCGCCACGGCCAC	0.721													A	100210453	G	A	100210453	3	1	364	1	0	0	0	0	1	0	0	0	358	1087	38	1	2054	1	AFF3	2	100210453	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	100210453	142988920	2033	25535											
CHST10	9486	broad.mit.edu	37	chr2	101010027	101010027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaactgaaggtctagccAtctgtggttcggatcgccga	9	9	11	12	3	2	1	0	1	2	0	4	3	2	2	3	3	2	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101010027A>G	ENST00000264249.3	-	7	1136	c.751T>C	c.(751-753)Tgg>Cgg	p.W251R	CHST10_ENST00000409701.1_Missense_Mutation_p.W251R|CHST10_ENST00000542617.1_Missense_Mutation_p.W299R	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	251					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						AGGTCTAGCCATCTGTGGTTC	0.522													G	101010027	A	G	101010027	3	3	364	1	0	0	0	0	1	0	0	0	3428	217	8	3	323	3	CHST10	2	101010027	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	799574	101010027	142189346	2034	25536											
PDCL3	79031	broad.mit.edu	37	chr2	101183071	101183071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcagaagaggagcagcGcatcctccagcagtcagtgg	11	4	16	10	1	1	2	1	0	0	2	3	4	3	4	2	4	3	4	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101183071G>A	ENST00000264254.6	+	2	491	c.113G>A	c.(112-114)cGc>cAc	p.R38H		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	38					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						GAGGAGCAGCGCATCCTCCAG	0.527													A	101183071	G	A	101183071	3	1	364	1	0	0	0	0	1	0	0	0	11704	1087	38	1	119	1	PDCL3	2	101183071	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173044	101183071	142016302	2035	25537											
PDCL3	79031	broad.mit.edu	37	chr2	101185443	101185443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctggaggatcatgaagacGagtttaatgaggaggatgaa	15	8	15	3	1	1	4	1	3	0	1	1	9	1	8	0	4	1	2	0	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101185443G>A	ENST00000264254.6	+	3	562	c.184G>A	c.(184-186)Gag>Aag	p.E62K		NM_024065.4	NP_076970.1	Q9H2J4	PDCL3_HUMAN	phosducin-like 3	62					apoptosis|interspecies interaction between organisms	cytoplasm	protein binding			endometrium(3)|large_intestine(2)|liver(1)|lung(6)	12						TCATGAAGACGAGTTTAATGA	0.363													A	101185443	G	A	101185443	3	1	364	1	0	0	0	0	1	0	0	0	11704	1059	37	1	194	1	PDCL3	2	101185443	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2372	101185443	142013930	2036	25538											
NPAS2	4862	broad.mit.edu	37	chr2	101587504	101587504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggctctggaagacccgCcatccgaggccctccactcc	7	6	10	18	2	1	1	0	0	1	1	4	3	4	2	6	3	1	2	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101587504C>T	ENST00000335681.5	+	12	1393	c.1108C>T	c.(1108-1110)Cca>Tca	p.P370S	NPAS2_ENST00000542504.1_Missense_Mutation_p.P435S	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	370					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGAAGACCCGCCATCCGAGGC	0.557													T	101587504	C	T	101587504	3	4	364	1	0	0	0	0	1	0	0	0	10639	739	26	2	1150	2	NPAS2	2	101587504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	402061	101587504	141611869	2037	25539											
NPAS2	4862	broad.mit.edu	37	chr2	101591354	101591354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtcattcgccatcggcGtcctcaagaagttcccacaa	11	8	7	15	3	2	1	2	0	0	1	6	1	4	1	4	1	0	1	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101591354G>A	ENST00000335681.5	+	13	1515	c.1230G>A	c.(1228-1230)gcG>gcA	p.A410A	NPAS2_ENST00000542504.1_Silent_p.A475A|AC016738.3_ENST00000446644.1_RNA|AC016738.3_ENST00000439150.1_RNA	NM_002518.3	NP_002509.2	Q99743	NPAS2_HUMAN	neuronal PAS domain protein 2	410					central nervous system development|positive regulation of transcription from RNA polymerase II promoter|rhythmic process	transcription factor complex	DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			cervix(1)|endometrium(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CGCCATCGGCGTCCTCAAGAA	0.562													A	101591354	G	A	101591354	2	1	364	1	0	0	0	0	0	0	0	1	10639	1132	40	1		1	NPAS2	2	101591354	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3850	101591354	141608019	2038	25540											
TBC1D8	11138	broad.mit.edu	37	chr2	101648805	101648805	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccagaaggcttcctcctCcttggtgtacagcagcagca	9	8	10	14	0	0	1	0	0	0	1	3	1	3	1	4	2	5	5	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101648805C>A	ENST00000409318.1	-	11	1991	c.1861G>T	c.(1861-1863)Gag>Tag	p.E621*	TBC1D8_ENST00000376840.4_Nonsense_Mutation_p.E606*	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	606	Rab-GAP TBC.				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GCTTCCTCCTCCTTGGTGTAC	0.567													A	101648805	C	A	101648805	4	1	364	1	0	0	0	0	0	1	0	0	15725	864	30	4	1646	4	TBC1D8	2	101648805	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57451	101648805	141550568	2039	25541											
TBC1D8	11138	broad.mit.edu	37	chr2	101654024	101654024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggctctggctgcctgaCtgctggaaggcggtgaccag	6	8	16	11	1	2	2	1	2	1	0	2	3	2	3	2	5	2	3	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101654024C>T	ENST00000409318.1	-	8	1552	c.1422G>A	c.(1420-1422)caG>caA	p.Q474Q	TBC1D8_ENST00000376840.4_Silent_p.Q459Q	NM_001102426.1	NP_001095896.1	O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	459					blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						GGCTGCCTGACTGCTGGAAGG	0.597													T	101654024	C	T	101654024	2	4	364	1	0	0	0	0	0	0	0	1	15725	564	20	2		2	TBC1D8	2	101654024	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5219	101654024	141545349	2040	25542											
RNF149	284996	broad.mit.edu	37	chr2	101898453	101898453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaaagctagactcaaatTtgcagctggatcccttccag	11	11	9	10	0	1	1	1	0	0	1	3	2	3	2	2	2	3	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:101898453T>C	ENST00000295317.3	-	6	1134	c.1027A>G	c.(1027-1029)Aat>Gat	p.N343D		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	343						integral to membrane	ligase activity|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						AGACTCAAATTTGCAGCTGGA	0.488													C	101898453	T	C	101898453	3	2	364	1	0	0	0	0	1	0	0	0	13541	1841	64	3	183	3	RNF149	2	101898453	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	244429	101898453	141300920	2041	25543											
MAP4K4	9448	broad.mit.edu	37	chr2	102456416	102456416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagttagaatccagcttaaGgatcatatagatcgtaccag	15	10	8	8	1	1	2	1	0	0	2	3	3	2	3	2	1	2	3	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102456416G>T	ENST00000413150.2	+	10	964	c.909G>T	c.(907-909)aaG>aaT	p.K303N	MAP4K4_ENST00000324219.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000425019.1_Missense_Mutation_p.K303N|MAP4K4_ENST00000350198.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000347699.4_Missense_Mutation_p.K303N|MAP4K4_ENST00000302217.5_Intron|MAP4K4_ENST00000350878.4_Missense_Mutation_p.K283N|MAP4K4_ENST00000456652.1_Intron	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	303					intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TCCAGCTTAAGGATCATATAG	0.388													T	102456416	G	T	102456416	3	4	364	1	0	0	0	0	1	0	0	0	9337	991	35	4	947	4	MAP4K4	2	102456416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	557963	102456416	140742957	2042	25544											
IL1R2	7850	broad.mit.edu	37	chr2	102626164	102626164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcatcaacctgacatggCataaaaatgactctgctagg	13	8	8	12	1	2	2	1	2	1	0	2	2	2	2	2	2	2	3	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626164C>T	ENST00000332549.3	+	3	437	c.208C>T	c.(208-210)Cat>Tat	p.H70Y	IL1R2_ENST00000393414.2_Missense_Mutation_p.H70Y|IL1R2_ENST00000441002.1_Missense_Mutation_p.H70Y	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	70	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	CCTGACATGGCATAAAAATGA	0.617													T	102626164	C	T	102626164	3	4	364	1	0	0	0	0	1	0	0	0	7717	710	25	2	214	2	IL1R2	2	102626164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169748	102626164	140573209	2043	25545											
IL1R2	7850	broad.mit.edu	37	chr2	102626209	102626209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggagaagaagagacaCggatgtgggcccaggacggt	12	4	16	9	2	0	3	0	0	0	3	1	7	1	5	2	5	0	0	2	5	2	0	rs139061430	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102626209C>T	ENST00000332549.3	+	3	482	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	IL1R2_ENST00000393414.2_Missense_Mutation_p.R85W|IL1R2_ENST00000441002.1_Missense_Mutation_p.R85W	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	85	Ig-like C2-type 1.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	AGAAGAGACACGGATGTGGGC	0.597													T	102626209	C	T	102626209	3	4	364	1	0	0	0	0	1	0	0	0	7717	527	19	1	259	1	IL1R2	2	102626209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45	102626209	140573164	2044	25546											
IL1RL2	8808	broad.mit.edu	37	chr2	102842450	102842450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatacaacatttttaagatcGacattgttctttggtatcga	12	17	6	6	2	1	1	0	0	1	1	3	3	1	1	0	1	2	2	0	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102842450G>A	ENST00000264257.2	+	9	1210	c.1084G>A	c.(1084-1086)Gac>Aac	p.D362N	IL1RL2_ENST00000441515.2_Missense_Mutation_p.D244N|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.D362N	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	362					cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TTTTAAGATCGACATTGTTCT	0.408													A	102842450	G	A	102842450	3	1	364	1	0	0	0	0	1	0	0	0	7722	1058	37	1	1114	1	IL1RL2	2	102842450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216241	102842450	140356923	2045	25547											
IL1RL1	9173	broad.mit.edu	37	chr2	102958715	102958715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttctctgtttccagtaatcGgagcccctgcacaaaatgaa	11	12	7	11	1	1	1	0	1	1	0	4	2	2	2	3	1	2	3	3	1	4	3	rs75320001	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958715G>A	ENST00000311734.2	+	6	982	c.643G>A	c.(643-645)Gga>Aga	p.G215R	IL1RL1_ENST00000409584.1_Missense_Mutation_p.G215R|IL1RL1_ENST00000404917.2_Missense_Mutation_p.G98R|IL1RL1_ENST00000233954.1_Missense_Mutation_p.G215R	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	215	Ig-like C2-type 3.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.G215R(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						TCCAGTAATCGGAGCCCCTGC	0.338													A	102958715	G	A	102958715	3	1	364	1	0	0	0	0	1	0	0	0	7721	1117	39	1	661	1	IL1RL1	2	102958715	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116265	102958715	140240658	2046	25548											
IL1RL1	9173	broad.mit.edu	37	chr2	102958729	102958729	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaatcggagcccctgcacaAaatgaaataaaggaagtgga	17	6	11	7	1	0	1	0	1	0	0	1	4	0	4	2	3	2	2	2	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102958729A>G	ENST00000311734.2	+	6	996	c.657A>G	c.(655-657)caA>caG	p.Q219Q	IL1RL1_ENST00000409584.1_Silent_p.Q219Q|IL1RL1_ENST00000404917.2_Silent_p.Q102Q|IL1RL1_ENST00000233954.1_Silent_p.Q219Q	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	219	Ig-like C2-type 3.				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						CCCCTGCACAAAATGAAATAA	0.353													G	102958729	A	G	102958729	2	3	364	1	0	0	0	0	0	0	0	1	7721	11	1	3		3	IL1RL1	2	102958729	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14	102958729	140240644	2047	25549											
IL1RL1	9173	broad.mit.edu	37	chr2	102968195	102968195	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatgctgcaggctgaggcGcttcaggactccctccagca	8	7	12	14	1	1	1	1	1	0	0	3	3	3	2	2	3	3	5	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:102968195G>A	ENST00000233954.1	+	11	1756	c.1485G>A	c.(1483-1485)gcG>gcA	p.A495A		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	495	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						AGGCTGAGGCGCTTCAGGACT	0.527													A	102968195	G	A	102968195	2	1	364	1	0	0	0	0	0	0	0	1	7721	1074	38	1		1	IL1RL1	2	102968195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9466	102968195	140231178	2048	25550											
IL18RAP	8807	broad.mit.edu	37	chr2	103068357	103068357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgccttggatgatcaaAcactgaaactcattttaatt	13	15	5	8	0	3	2	2	2	1	0	3	3	3	3	1	1	3	0	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068357A>G	ENST00000264260.2	+	12	2105	c.1516A>G	c.(1516-1518)Aca>Gca	p.T506A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T364A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	506	TIR.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGATGATCAAACACTGAAACT	0.413													G	103068357	A	G	103068357	3	3	364	1	0	0	0	0	1	0	0	0	7706	43	2	3	1554	3	IL18RAP	2	103068357	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	100162	103068357	140131016	2049	25551											
IL18RAP	8807	broad.mit.edu	37	chr2	103068626	103068626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactgggaggagctcccaGcctaaggaatggtgaaatga	13	6	13	9	0	0	2	0	2	0	0	1	5	1	5	3	4	2	1	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103068626G>A	ENST00000264260.2	+	12	2374	c.1785G>A	c.(1783-1785)caG>caA	p.Q595Q	IL18RAP_ENST00000409369.1_Silent_p.Q453Q	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	595					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAGCTCCCAGCCTAAGGAAT	0.507													A	103068626	G	A	103068626	2	1	364	1	0	0	0	0	0	0	0	1	7706	962	34	2		2	IL18RAP	2	103068626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	103068626	140130747	2050	25552											
SLC9A4	389015	broad.mit.edu	37	chr2	103095459	103095459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcctgccacccatcgttCtggagggcggctacttcatg	6	11	10	14	2	3	0	1	0	2	0	5	1	3	1	3	3	2	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103095459C>A	ENST00000295269.4	+	2	875	c.418C>A	c.(418-420)Ctg>Atg	p.L140M		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	140					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						ACCCATCGTTCTGGAGGGCGG	0.612													A	103095459	C	A	103095459	3	1	364	1	0	0	0	0	1	0	0	0	14810	912	32	4	424	4	SLC9A4	2	103095459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26833	103095459	140103914	2051	25553											
SLC9A4	389015	broad.mit.edu	37	chr2	103119909	103119909	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctcttttttgcctaggtCttatacaatatgttaattgc	9	19	5	8	0	2	0	0	0	2	0	3	0	2	0	1	1	3	1	1	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103119909C>T	ENST00000295269.4	+	3	1180	c.723C>T	c.(721-723)gtC>gtT	p.V241V		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	241					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TTGCCTAGGTCTTATACAATA	0.358													T	103119909	C	T	103119909	2	4	364	1	0	0	0	0	0	0	0	1	14810	900	32	2		2	SLC9A4	2	103119909	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24450	103119909	140079464	2052	25554											
SLC9A2	6549	broad.mit.edu	37	chr2	103274445	103274445	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgagcagctctacatcCtggtctttggagagtccctg	8	12	10	11	0	3	2	1	1	2	1	5	3	5	2	2	2	3	2	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103274445C>A	ENST00000233969.2	+	2	854	c.712C>A	c.(712-714)Ctg>Atg	p.L238M		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	238						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						GCTCTACATCCTGGTCTTTGG	0.527													A	103274445	C	A	103274445	3	1	364	1	0	0	0	0	1	0	0	0	14806	680	24	4	718	4	SLC9A2	2	103274445	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154536	103274445	139924928	2053	25555											
SLC9A2	6549	broad.mit.edu	37	chr2	103300674	103300674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagttcatcattgcctatgGaggacttcgaggtgccatct	8	12	10	11	1	3	0	2	0	1	0	4	3	3	2	3	3	2	1	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103300674G>A	ENST00000233969.2	+	5	1446	c.1304G>A	c.(1303-1305)gGa>gAa	p.G435E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	435						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						ATTGCCTATGGAGGACTTCGA	0.448													A	103300674	G	A	103300674	3	1	364	1	0	0	0	0	1	0	0	0	14806	1174	41	2	1322	2	SLC9A2	2	103300674	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26229	103300674	139898699	2054	25556											
SLC9A2	6549	broad.mit.edu	37	chr2	103317600	103317600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaccaaagtcaagtattgTatctttatataaaaagcttg	16	13	5	7	0	2	0	1	0	1	0	2	0	2	0	2	0	2	3	2	0	10	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103317600T>C	ENST00000233969.2	+	8	1800	c.1658T>C	c.(1657-1659)gTa>gCa	p.V553A	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	553						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCAAGTATTGTATCTTTATAT	0.323													C	103317600	T	C	103317600	3	2	364	1	0	0	0	0	1	0	0	0	14806	1638	57	3	1688	3	SLC9A2	2	103317600	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16926	103317600	139881773	2055	25557											
MFSD9	84804	broad.mit.edu	37	chr2	103335385	103335385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcctccagggccaggaCaaagttactgtagtacagca	11	7	11	12	1	0	0	0	0	0	0	2	1	2	1	3	2	3	5	3	2	4	3	rs34240435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103335385C>T	ENST00000258436.5	-	6	962	c.919G>A	c.(919-921)Gtc>Atc	p.V307I		NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	307					transmembrane transport	integral to membrane|plasma membrane	transporter activity			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGGGCCAGGACAAAGTTACTG	0.577													T	103335385	C	T	103335385	3	4	364	1	0	0	0	0	1	0	0	0	9614	478	17	2	509	2	MFSD9	2	103335385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17785	103335385	139863988	2056	25558											
TMEM182	130827	broad.mit.edu	37	chr2	103378809	103378809	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcaggtgaaaagaatGtgagtctcttcttcaaaata	14	13	9	5	0	4	3	2	2	2	1	5	4	4	3	0	1	0	1	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:103378809G>A	ENST00000412401.2	+	1	337		c.e1+1		TMEM182_ENST00000409528.1_Intron|TMEM182_ENST00000409173.1_Intron	NM_144632.3	NP_653233.3	Q6ZP80	TM182_HUMAN	transmembrane protein 182							integral to membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11						TGAAAAGAATGTGAGTCTCTT	0.403													A	103378809	G	A	103378809	5	1	364	1	0	0	0	0	0	0	1	0	16201	1391	48	2	135	2	TMEM182	2	103378809	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43424	103378809	139820564	2057	25559											
MRPS9	64965	broad.mit.edu	37	chr2	105713700	105713700	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggggcgggaggtcagcGcaggctggagcaatacgact	9	5	18	9	3	2	0	2	0	0	0	2	3	2	2	0	6	3	3	0	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105713700G>A	ENST00000258455.3	+	10	1127	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	AC104655.2_ENST00000449177.1_RNA|AC104655.2_ENST00000432211.1_RNA	NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	339					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						GGAGGTCAGCGCAGGCTGGAG	0.557													A	105713700	G	A	105713700	2	1	364	1	0	0	0	0	0	0	0	1	9925	1074	38	1		1	MRPS9	2	105713700	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2334891	105713700	137485673	2058	25560											
GPR45	11250	broad.mit.edu	37	chr2	105858813	105858813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgcatcgcggggccctcGctcacgggctggacgctggt	3	9	15	14	5	2	0	1	0	1	0	4	1	2	1	1	5	1	4	1	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105858813G>A	ENST00000258456.1	+	1	614	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	166						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CGGGGCCCTCGCTCACGGGCT	0.692													A	105858813	G	A	105858813	2	1	364	1	0	0	0	0	0	0	0	1	6750	1074	38	1		1	GPR45	2	105858813	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145113	105858813	137340560	2059	25561											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105885808	105885808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctggcatggatgctgTccctcatggcccccatcagg	5	10	10	16	0	2	0	2	0	0	0	5	1	5	1	5	4	1	2	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105885808T>C	ENST00000393359.2	-	11	2753	c.2327A>G	c.(2326-2328)gAc>gGc	p.D776G	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.D776G			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	776					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						ATGGATGCTGTCCCTCATGGC	0.602													C	105885808	T	C	105885808	3	2	364	1	0	0	0	0	1	0	0	0	15924	1667	58	3	263	3	TGFBRAP1	2	105885808	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26995	105885808	137313565	2060	25562											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105889457	105889457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcacagctaagtgggtGtgatactcttctttctgcag	9	13	10	9	0	3	1	0	1	3	0	3	1	3	1	0	1	5	3	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105889457G>A	ENST00000393359.2	-	10	2253	c.1827C>T	c.(1825-1827)caC>caT	p.H609H	TGFBRAP1_ENST00000258449.1_Silent_p.H609H			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	609					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTAAGTGGGTGTGATACTCTT	0.592													A	105889457	G	A	105889457	2	1	364	1	0	0	0	0	0	0	0	1	15924	1368	48	2		2	TGFBRAP1	2	105889457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3649	105889457	137309916	2061	25563											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105896980	105896980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctccttgtagccatttGctacctctgtgctgcggacc	4	14	9	14	1	1	0	0	0	1	0	3	1	3	1	5	1	5	3	5	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105896980G>A	ENST00000393359.2	-	6	1748	c.1322C>T	c.(1321-1323)gCa>gTa	p.A441V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.A441V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	441					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GTAGCCATTTGCTACCTCTGT	0.562													A	105896980	G	A	105896980	3	1	364	1	0	0	0	0	1	0	0	0	15924	1319	46	2	1288	2	TGFBRAP1	2	105896980	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7523	105896980	137302393	2062	25564											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924279	105924279	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtcgacacctccttgacGatctgcacccggtcctcgta	7	9	9	16	4	1	1	0	1	1	0	5	3	3	1	4	1	1	3	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924279G>A	ENST00000393359.2	-	2	906	c.480C>T	c.(478-480)atC>atT	p.I160I	TGFBRAP1_ENST00000258449.1_Silent_p.I160I			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	160	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CCTCCTTGACGATCTGCACCC	0.552													A	105924279	G	A	105924279	2	1	364	1	0	0	0	0	0	0	0	1	15924	1048	37	1		1	TGFBRAP1	2	105924279	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27299	105924279	137275094	2063	25565											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924676	105924676	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgcagcactccacgcacTctatgttgacgcgctccttg	6	10	9	16	4	1	1	0	1	1	0	3	1	3	1	3	0	2	5	3	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:105924676T>A	ENST00000393359.2	-	2	509	c.83A>T	c.(82-84)gAg>gTg	p.E28V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.E28V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	28	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						CTCCACGCACTCTATGTTGAC	0.597													A	105924676	T	A	105924676	3	1	364	1	0	0	0	0	1	0	0	0	15924	1551	54	5	2543	5	TGFBRAP1	2	105924676	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	397	105924676	137274697	2064	25566											
C2orf40	84417	broad.mit.edu	37	chr2	106690484	106690484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagcagtttctctacatGggctttgacgaagcggtagg	9	11	12	9	2	1	1	0	1	1	0	2	2	1	1	1	3	4	4	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:106690484G>A	ENST00000409944.1	+	4	393	c.162G>A	c.(160-162)atG>atA	p.M54I	C2orf40_ENST00000238044.3_Missense_Mutation_p.M90I|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	90						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						TTCTCTACATGGGCTTTGACG	0.617													A	106690484	G	A	106690484	3	1	364	1	0	0	0	0	1	0	0	0	2186	1348	47	2	280	2	C2orf40	2	106690484	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	765808	106690484	136508889	2065	25567											
RGPD3	653489	broad.mit.edu	37	chr2	107073497	107073497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccacccagtattctgctcttCcatcagtaacatcattttta	10	15	3	13	0	4	0	2	0	2	0	5	0	5	0	3	0	2	3	3	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107073497C>T	ENST00000409886.3	-	4	422	c.335G>A	c.(334-336)gGa>gAa	p.G112E	RGPD3_ENST00000304514.7_Missense_Mutation_p.G112E	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	112					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTCTGCTCTTCCATCAGTAAC	0.348													T	107073497	C	T	107073497	3	4	364	1	0	0	0	0	1	0	0	0	13375	855	30	2	5021	2	RGPD3	2	107073497	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	383013	107073497	136125876	2066	25568											
RGPD3	653489	broad.mit.edu	37	chr2	107073523	107073523	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaacatcatttttacaaagCaattctgcaatcttcaacac	15	13	3	10	0	4	0	2	0	2	0	4	0	4	0	0	0	5	3	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107073523C>T	ENST00000409886.3	-	4	396	c.309G>A	c.(307-309)ttG>ttA	p.L103L	RGPD3_ENST00000304514.7_Silent_p.L103L	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	103					intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TTTTACAAAGCAATTCTGCAA	0.328													T	107073523	C	T	107073523	2	4	364	1	0	0	0	0	0	0	0	1	13375	709	25	2		2	RGPD3	2	107073523	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26	107073523	136125850	2067	25569											
ST6GAL2	84620	broad.mit.edu	37	chr2	107450509	107450509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccatctgtcttacctgcGaattaatgatgcgtatggtg	9	14	9	9	2	2	1	0	1	2	0	3	2	3	1	2	1	3	1	2	1	4	3	rs138821621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:107450509G>A	ENST00000409382.3	-	3	1647	c.1037C>T	c.(1036-1038)tCg>tTg	p.S346L	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.S346L|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.S346L	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	346					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.S346L(2)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						TCTTACCTGCGAATTAATGAT	0.393													A	107450509	G	A	107450509	3	1	364	1	0	0	0	0	1	0	0	0	15318	1059	37	1	655	1	ST6GAL2	2	107450509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	376986	107450509	135748864	2068	25570											
SULT1C3	442038	broad.mit.edu	37	chr2	108863776	108863776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggaaaaagtatgtaatttCcaagccaagcctgatgatct	14	11	9	7	0	1	2	0	2	1	0	2	3	2	3	3	1	2	2	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108863776C>A	ENST00000329106.2	+	1	126	c.126C>A	c.(124-126)ttC>ttA	p.F42L	SULT1C3_ENST00000376700.1_Missense_Mutation_p.F42L	NM_001008743.1	NP_001008743.1	Q6IMI6	ST1C3_HUMAN	sulfotransferase family, cytosolic, 1C, member 3	42						cytoplasm	alcohol sulfotransferase activity			breast(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(4)	16						TATGTAATTTCCAAGCCAAGC	0.358													A	108863776	C	A	108863776	3	1	364	1	0	0	0	0	1	0	0	0	15474	854	30	4	128	4	SULT1C3	2	108863776	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1413267	108863776	134335597	2069	25571											
SULT1C2	6819	broad.mit.edu	37	chr2	108921631	108921631	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgtgtctatttcagtggTttggggttcctggtttgacc	3	18	12	8	0	2	1	1	1	1	0	4	1	4	1	3	4	0	3	3	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921631T>G	ENST00000326853.5	+	7	992	c.539T>G	c.(538-540)gTt>gGt	p.V180G	SULT1C2_ENST00000251481.6_Missense_Mutation_p.V169G|SULT1C2_ENST00000409880.1_Missense_Mutation_p.V132G|SULT1C2_ENST00000437390.2_Missense_Mutation_p.V183G	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	169					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						ATTTCAGTGGTTTGGGGTTCC	0.428													G	108921631	T	G	108921631	3	3	364	1	0	0	0	0	1	0	0	0	15473	1725	60	5	623	5	SULT1C2	2	108921631	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57855	108921631	134277742	2070	25572											
SULT1C2	6819	broad.mit.edu	37	chr2	108921684	108921684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggagatgaaagacagaCaccagattctcttcctcttc	11	10	10	10	0	2	5	0	1	2	4	5	6	3	5	2	2	0	0	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:108921684C>T	ENST00000326853.5	+	7	1045	c.592C>T	c.(592-594)Cac>Tac	p.H198Y	SULT1C2_ENST00000251481.6_Missense_Mutation_p.H187Y|SULT1C2_ENST00000409880.1_Missense_Mutation_p.H150Y|SULT1C2_ENST00000437390.2_Missense_Mutation_p.H201Y	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	187					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						GAAAGACAGACACCAGATTCT	0.438													T	108921684	C	T	108921684	3	4	364	1	0	0	0	0	1	0	0	0	15473	478	17	2	676	2	SULT1C2	2	108921684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	108921684	134277689	2071	25573											
GCC2	9648	broad.mit.edu	37	chr2	109086935	109086935	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgaacgggaagacttaGagtttaaaattaatgaatta	17	13	8	3	1	1	4	1	2	0	2	1	5	1	5	0	1	1	1	0	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109086935G>T	ENST00000309863.6	+	6	1864	c.1150G>T	c.(1150-1152)Gag>Tag	p.E384*		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	384					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding	p.E384Q(1)		breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						GGAAGACTTAGAGTTTAAAAT	0.284													T	109086935	G	T	109086935	4	4	364	1	0	0	0	0	0	1	0	0	6340	943	33	4	1172	4	GCC2	2	109086935	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165251	109086935	134112438	2072	25574											
GCC2	9648	broad.mit.edu	37	chr2	109098228	109098228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctaataattttgagcatCgtattgaagaccttacaaga	14	13	8	6	1	0	4	0	2	0	2	1	4	0	4	1	0	3	3	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109098228C>T	ENST00000309863.6	+	10	3850	c.3136C>T	c.(3136-3138)Cgt>Tgt	p.R1046C		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1046					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						TTTTGAGCATCGTATTGAAGA	0.279													T	109098228	C	T	109098228	3	4	364	1	0	0	0	0	1	0	0	0	6340	884	31	1	3174	1	GCC2	2	109098228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11293	109098228	134101145	2073	25575											
GCC2	9648	broad.mit.edu	37	chr2	109103047	109103047	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggaacagcaccagcgtacGctaagtgcataccagcagag	13	4	12	12	3	0	1	0	0	0	1	0	2	0	2	2	1	7	5	2	1	4	3	rs149849446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109103047G>A	ENST00000309863.6	+	16	4587	c.3873G>A	c.(3871-3873)acG>acA	p.T1291T		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1291					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ACCAGCGTACGCTAAGTGCAT	0.502													A	109103047	G	A	109103047	2	1	364	1	0	0	0	0	0	0	0	1	6340	1074	38	1		1	GCC2	2	109103047	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4819	109103047	134096326	2074	25576											
LIMS1	3987	broad.mit.edu	37	chr2	109276098	109276098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccagcgccacttgcgagCgctgcaagggcggctttgcg	5	7	16	13	5	0	0	0	0	0	0	0	1	0	0	2	3	5	3	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109276098C>T	ENST00000393310.1	+	2	201	c.34C>T	c.(34-36)Cgc>Tgc	p.R12C	LIMS1_ENST00000462817.1_3'UTR|LIMS1_ENST00000332345.6_Missense_Mutation_p.R12C|LIMS1_ENST00000410093.1_Missense_Mutation_p.R16C|LIMS1_ENST00000409441.1_Missense_Mutation_p.R49C|LIMS1_ENST00000393314.2_Missense_Mutation_p.R74C|LIMS1_ENST00000338045.3_Missense_Mutation_p.R12C|LIMS1_ENST00000544547.1_Missense_Mutation_p.R24C|LIMS1_ENST00000542845.1_Missense_Mutation_p.R74C	NM_001193488.1	NP_001180417.1	P48059	LIMS1_HUMAN	LIM and senescent cell antigen-like domains 1	12	LIM zinc-binding 1.				cell aging|cell junction assembly|cellular response to transforming growth factor beta stimulus|negative regulation of transcription, DNA-dependent	cytosol|focal adhesion|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	10						CACTTGCGAGCGCTGCAAGGG	0.562													T	109276098	C	T	109276098	3	4	364	1	0	0	0	0	1	0	0	0	8863	768	27	1	36	1	LIMS1	2	109276098	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173051	109276098	133923275	2075	25577											
RANBP2	5903	broad.mit.edu	37	chr2	109368449	109368449	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagaatgccttcagaaaaCggtgagttttaaagtataag	15	10	11	5	1	1	3	1	1	0	2	1	3	1	3	1	2	2	3	1	2	7	5	rs121434502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109368449C>T	ENST00000283195.6	+	12	1880	c.1754C>T	c.(1753-1755)aCg>aTg	p.T585M		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	585			T -> M (associated with ANE1).		carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CTTCAGAAAACGGTGAGTTTT	0.338													T	109368449	C	T	109368449	5	4	364	1	0	0	0	0	0	0	1	0	13116	550	19	1	1800	1	RANBP2	2	109368449	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92351	109368449	133830924	2076	25578											
RANBP2	5903	broad.mit.edu	37	chr2	109383804	109383804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaacaggatttaacttcaGttttaaatctgctttgagtc	13	15	6	7	0	2	1	1	1	1	0	3	2	2	2	0	1	4	2	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109383804G>T	ENST00000283195.6	+	20	6935	c.6809G>T	c.(6808-6810)aGt>aTt	p.S2270I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2270					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TTTAACTTCAGTTTTAAATCT	0.408													T	109383804	G	T	109383804	3	4	364	1	0	0	0	0	1	0	0	0	13116	1029	36	4	6887	4	RANBP2	2	109383804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15355	109383804	133815569	2077	25579											
CCDC138	165055	broad.mit.edu	37	chr2	109405347	109405347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagataaagttggttcatCgttaaaatattctgatgaaa	15	14	9	3	1	2	3	1	2	1	1	3	4	2	3	0	2	0	3	0	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109405347C>T	ENST00000295124.4	+	3	251	c.191C>T	c.(190-192)tCg>tTg	p.S64L	CCDC138_ENST00000412964.2_Missense_Mutation_p.S64L|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	64										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						GTTGGTTCATCGTTAAAATAT	0.358													T	109405347	C	T	109405347	3	4	364	1	0	0	0	0	1	0	0	0	2798	893	31	1	201	1	CCDC138	2	109405347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21543	109405347	133794026	2078	25580											
CCDC138	165055	broad.mit.edu	37	chr2	109411018	109411018	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgccaactaatacgacCtcatcgagacctcggactga	11	8	8	14	3	1	2	1	1	0	1	3	5	1	3	4	1	3	0	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109411018C>A	ENST00000295124.4	+	5	477	c.417C>A	c.(415-417)acC>acA	p.T139T	CCDC138_ENST00000412964.2_Silent_p.T139T|CCDC138_ENST00000470608.1_3'UTR	NM_144978.1	NP_659415.1	Q96M89	CC138_HUMAN	coiled-coil domain containing 138	139										endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	14						CTAATACGACCTCATCGAGAC	0.388													A	109411018	C	A	109411018	2	1	364	1	0	0	0	0	0	0	0	1	2798	668	24	4		4	CCDC138	2	109411018	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5671	109411018	133788355	2079	25581											
EDAR	10913	broad.mit.edu	37	chr2	109513511	109513511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtagcctgccgtgctgatgCggtcaaagagttgcatgccg	7	10	14	10	3	1	2	1	1	0	1	1	2	1	2	3	1	6	4	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:109513511C>T	ENST00000409271.1	-	12	1738	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	EDAR_ENST00000376651.1_Missense_Mutation_p.R432H|EDAR_ENST00000258443.2_Missense_Mutation_p.R400H			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CGTGCTGATGCGGTCAAAGAG	0.567													T	109513511	C	T	109513511	3	4	364	1	0	0	0	0	1	0	0	0	4944	768	27	1	151	1	EDAR	2	109513511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102493	109513511	133685862	2080	25582											
SH3RF3	344558	broad.mit.edu	37	chr2	110015264	110015264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaccgcgctcagtgtgacGcacagatcctcccaggctgc	7	8	10	16	3	2	2	2	1	0	1	4	2	4	2	3	1	1	3	3	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110015264G>A	ENST00000309415.6	+	4	1164	c.1164G>A	c.(1162-1164)acG>acA	p.T388T		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	388							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						TCAGTGTGACGCACAGATCCT	0.592													A	110015264	G	A	110015264	2	1	364	1	0	0	0	0	0	0	0	1	14354	1074	38	1		1	SH3RF3	2	110015264	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	501753	110015264	133184109	2081	25583											
SH3RF3	344558	broad.mit.edu	37	chr2	110036088	110036088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctcccaaggtccagctgCccctcaacgtgtgagctgcc	6	7	10	18	2	1	1	1	1	0	0	3	1	3	1	6	1	5	2	6	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110036088C>T	ENST00000309415.6	+	5	1393	c.1393C>T	c.(1393-1395)Ccc>Tcc	p.P465S		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	465	SH3 3.						zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						GGTCCAGCTGCCCCTCAACGT	0.662													T	110036088	C	T	110036088	3	4	364	1	0	0	0	0	1	0	0	0	14354	739	26	2	1411	2	SH3RF3	2	110036088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20824	110036088	133163285	2082	25584											
SH3RF3	344558	broad.mit.edu	37	chr2	110065843	110065843	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctcccaacgtcagtgcCgcaaacctcaacggggaggc	11	4	10	16	3	2	0	2	0	0	0	3	1	3	1	4	3	4	1	4	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110065843C>A	ENST00000309415.6	+	8	2046	c.2046C>A	c.(2044-2046)gcC>gcA	p.A682A		NM_001099289.1	NP_001092759.1	Q8TEJ3	SH3R3_HUMAN	SH3 domain containing ring finger 3	682							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|liver(2)|lung(5)|ovary(2)	18						ACGTCAGTGCCGCAAACCTCA	0.627													A	110065843	C	A	110065843	2	1	364	1	0	0	0	0	0	0	0	1	14354	639	23	4		4	SH3RF3	2	110065843	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29755	110065843	133133530	2083	25585											
NPHP1	4867	broad.mit.edu	37	chr2	110907762	110907762	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcagcagattacttacctgGggagaaaaggtccatgtttt	11	13	10	7	0	1	2	1	0	0	2	2	3	2	2	2	3	3	2	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:110907762G>T	ENST00000316534.4	-	12	1396	c.1323C>A	c.(1321-1323)ccC>ccA	p.P441P	NPHP1_ENST00000393272.3_Silent_p.P440P|NPHP1_ENST00000355301.4_Silent_p.P322P|NPHP1_ENST00000445609.2_Silent_p.P385P|NPHP1_ENST00000417665.1_Silent_p.P384P			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	440					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						TACTTACCTGGGGAGAAAAGG	0.373													T	110907762	G	T	110907762	2	4	364	1	0	0	0	0	0	0	0	1	10655	1219	43	4		4	NPHP1	2	110907762	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	841919	110907762	132291611	2084	25586											
BUB1	699	broad.mit.edu	37	chr2	111398963	111398963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttgctcaatcatgtaaaGcattctcatagcaaaagaga	16	10	6	9	0	3	1	3	0	1	1	4	2	3	1	0	0	3	4	0	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111398963G>A	ENST00000535254.1	-	21	2711	c.2644C>T	c.(2644-2646)Ctt>Ttt	p.L882F	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Missense_Mutation_p.L902F|BUB1_ENST00000478175.1_5'UTR	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	902	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ATCATGTAAAGCATTCTCATA	0.373													A	111398963	G	A	111398963	3	1	364	1	0	0	0	0	1	0	0	0	1580	971	34	2	569	2	BUB1	2	111398963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491201	111398963	131800410	2085	25587											
BUB1	699	broad.mit.edu	37	chr2	111399019	111399019	+	Frame_Shift_Del	DEL	T	T	-																															gcatcactttttcaggggtaTttttatagaggttaatggca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111399019delT	ENST00000535254.1	-	21	2655	c.2588delA	c.(2587-2589)aatfs	p.N863fs	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Frame_Shift_Del_p.N883fs|BUB1_ENST00000478175.1_5'UTR	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	883	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTCAGGGGTATTTTTATAGAG	0.378													-	111399019	T	-	111399019	7	5	364	1	0	1	0	1	0	0	0	0	1580	1493	52	0	625	0	BUB1	2	111399019	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	56	111399019	131800354	2086	25588											
BUB1	699	broad.mit.edu	37	chr2	111408165	111408165	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactcatctgcatccattCtgcttggagcccagcaatag	10	11	8	12	0	3	1	1	1	2	0	4	2	4	2	2	1	5	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111408165C>A	ENST00000535254.1	-	17	2168	c.2101G>T	c.(2101-2103)Gaa>Taa	p.E701*	BUB1_ENST00000409311.1_Nonsense_Mutation_p.E721*|BUB1_ENST00000302759.6_Nonsense_Mutation_p.E721*	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	721					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TGCATCCATTCTGCTTGGAGC	0.512													A	111408165	C	A	111408165	4	1	364	1	0	0	0	0	0	1	0	0	1580	922	32	4	1128	4	BUB1	2	111408165	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9146	111408165	131791208	2087	25589											
BCL2L11	10018	broad.mit.edu	37	chr2	111907698	111907698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttgcggcgtattggagacGagtttaacgcttactatgca	10	12	12	7	4	0	1	0	0	0	1	0	3	0	1	0	2	4	5	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:111907698G>A	ENST00000393256.3	+	3	745	c.472G>A	c.(472-474)Gag>Aag	p.E158K	BCL2L11_ENST00000308659.8_Missense_Mutation_p.E98K|BCL2L11_ENST00000393253.2_Missense_Mutation_p.E68K|BCL2L11_ENST00000357757.2_Missense_Mutation_p.E158K	NM_001204106.1|NM_006538.4|NM_138621.4|NM_138627.3	NP_001191035.1|NP_006529.1|NP_619527.1|NP_619533.1	O43521	B2L11_HUMAN	BCL2-like 11 (apoptosis facilitator)	158					activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|nerve growth factor receptor signaling pathway|positive regulation of protein homooligomerization|positive regulation of release of cytochrome c from mitochondria	cytosol|endomembrane system|mitochondrial outer membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(3)|lung(2)|prostate(2)	11						TATTGGAGACGAGTTTAACGC	0.453													A	111907698	G	A	111907698	3	1	364	1	0	0	0	0	1	0	0	0	1374	1059	37	1	607	1	BCL2L11	2	111907698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	499533	111907698	131291675	2088	25590											
MERTK	10461	broad.mit.edu	37	chr2	112686866	112686866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagaccacatacaggaaaCgtagccattccccaggtgac	14	5	10	12	1	0	2	0	1	0	1	1	4	1	4	4	3	3	1	4	3	4	3	rs137909193	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112686866C>T	ENST00000295408.4	+	2	488	c.231C>T	c.(229-231)aaC>aaT	p.N77N	MERTK_ENST00000421804.2_Silent_p.N77N|MERTK_ENST00000409780.1_Intron			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	77					cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						ATACAGGAAACGTAGCCATTC	0.507													T	112686866	C	T	112686866	2	4	364	1	0	0	0	0	0	0	0	1	9554	535	19	1		1	MERTK	2	112686866	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	779168	112686866	130512507	2089	25591											
TMEM87B	84910	broad.mit.edu	37	chr2	112834827	112834827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttattgtttctattaaaaCggagaatacagatgcaagct	14	14	7	6	1	1	2	0	0	1	2	1	3	1	2	0	1	4	3	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112834827C>T	ENST00000283206.4	+	6	929	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	187						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						TCTATTAAAACGGAGAATACA	0.318													T	112834827	C	T	112834827	3	4	364	1	0	0	0	0	1	0	0	0	16311	536	19	1	582	1	TMEM87B	2	112834827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147961	112834827	130364546	2090	25592											
FBLN7	129804	broad.mit.edu	37	chr2	112942829	112942829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccccaggggaccacatGcatcaacaccggtggaagct	10	5	12	14	1	1	0	1	0	0	0	1	2	1	2	4	4	4	2	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942829G>A	ENST00000331203.2	+	7	1131	c.860G>A	c.(859-861)tGc>tAc	p.C287Y	FBLN7_ENST00000409450.3_Missense_Mutation_p.C241Y|FBLN7_ENST00000409667.3_Missense_Mutation_p.C153Y|FBLN7_ENST00000409903.1_Missense_Mutation_p.C287Y	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	287	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGACCACATGCATCAACACC	0.577													A	112942829	G	A	112942829	3	1	364	1	0	0	0	0	1	0	0	0	5750	1319	46	2	886	2	FBLN7	2	112942829	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108002	112942829	130256544	2091	25593											
FBLN7	129804	broad.mit.edu	37	chr2	112942849	112942849	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatcaacaccggtggaagcTtccagtgtgtcagccctgag	9	8	12	12	1	2	1	2	1	0	0	3	2	3	2	3	2	3	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:112942849T>G	ENST00000331203.2	+	7	1151	c.880T>G	c.(880-882)Ttc>Gtc	p.F294V	FBLN7_ENST00000409450.3_Missense_Mutation_p.F248V|FBLN7_ENST00000409667.3_Missense_Mutation_p.F160V|FBLN7_ENST00000409903.1_Missense_Mutation_p.F294V	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	294	EGF-like 3; calcium-binding (Potential).				cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CGGTGGAAGCTTCCAGTGTGT	0.587													G	112942849	T	G	112942849	3	3	364	1	0	0	0	0	1	0	0	0	5750	1609	56	5	906	5	FBLN7	2	112942849	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20	112942849	130256524	2092	25594											
ZC3H6	376940	broad.mit.edu	37	chr2	113089840	113089840	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccagctgacccacaggcGgacgttcccaggagttctgg	7	6	15	13	2	1	1	0	1	1	0	2	3	2	3	3	5	1	3	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113089840G>A	ENST00000409871.1	+	12	3746	c.3345G>A	c.(3343-3345)gcG>gcA	p.A1115A	ZC3H6_ENST00000343936.4_Silent_p.A1115A	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1115							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACCCACAGGCGGACGTTCCCA	0.527													A	113089840	G	A	113089840	2	1	364	1	0	0	0	0	0	0	0	1	17672	1103	39	1		1	ZC3H6	2	113089840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146991	113089840	130109533	2093	25595											
POLR1B	84172	broad.mit.edu	37	chr2	113305097	113305097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccaagctttgcaacttaCgtaaccttcccccacaagcc	12	9	4	16	1	0	0	0	0	0	0	2	0	2	0	5	0	6	3	5	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113305097C>T	ENST00000263331.5	+	3	1025	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	POLR1B_ENST00000417433.2_Missense_Mutation_p.R93C|POLR1B_ENST00000541869.1_Missense_Mutation_p.R187C|POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000409894.3_Missense_Mutation_p.R149C	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	149					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TTGCAACTTACGTAACCTTCC	0.493													T	113305097	C	T	113305097	3	4	364	1	0	0	0	0	1	0	0	0	12287	536	19	1	455	1	POLR1B	2	113305097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215257	113305097	129894276	2094	25596											
POLR1B	84172	broad.mit.edu	37	chr2	113326460	113326460	+	Silent	SNP	C	C	T																															cacaaccagagtccacggaaCatgtaccaatgccagatggg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326460C>T	ENST00000263331.5	+	12	2635	c.2055C>T	c.(2053-2055)aaC>aaT	p.N685N	POLR1B_ENST00000417433.2_Silent_p.N629N|POLR1B_ENST00000541869.1_Silent_p.N723N|POLR1B_ENST00000537335.1_Silent_p.N474N|POLR1B_ENST00000409894.3_Silent_p.N502N	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	685					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						GTCCACGGAACATGTACCAAT	0.443													T	113326460	C	T	113326460	2	4	364	1	0	0	0	0	0	0	0	1	12287	477	17	2		2	POLR1B	2	113326460	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21363	113326460	129872913	2095	25597	47	2									
POLR1B	84172	broad.mit.edu	37	chr2	113326468	113326468	+	Missense_Mutation	SNP	A	A	G																															gagtccacggaacatgtaccAatgccagatgggtaaggaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113326468A>G	ENST00000263331.5	+	12	2643	c.2063A>G	c.(2062-2064)cAa>cGa	p.Q688R	POLR1B_ENST00000417433.2_Missense_Mutation_p.Q632R|POLR1B_ENST00000541869.1_Missense_Mutation_p.Q726R|POLR1B_ENST00000537335.1_Missense_Mutation_p.Q477R|POLR1B_ENST00000409894.3_Missense_Mutation_p.Q505R	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	688					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						AACATGTACCAATGCCAGATG	0.438													G	113326468	A	G	113326468	3	3	364	1	0	0	0	0	1	0	0	0	12287	130	5	3	2109	3	POLR1B	2	113326468	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8	113326468	129872905	2096	25598	47	2									
CHCHD5	84269	broad.mit.edu	37	chr2	113343849	113343849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagtgtcttcgacagaaCgaggcagctgtgggcaactg	10	7	16	8	2	1	1	0	0	1	1	2	5	1	2	0	3	3	3	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343849C>T	ENST00000409719.1	+	3	269	c.216C>T	c.(214-216)aaC>aaT	p.N72N	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Silent_p.N72N			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	72	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						TTCGACAGAACGAGGCAGCTG	0.622													T	113343849	C	T	113343849	2	4	364	1	0	0	0	0	0	0	0	1	3349	535	19	1		1	CHCHD5	2	113343849	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17381	113343849	129855524	2097	25599											
CHCHD5	84269	broad.mit.edu	37	chr2	113343902	113343902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcttcctgcagtgcgCtgagcaggtgcagccgccac	5	6	14	16	4	0	1	0	1	0	0	1	1	1	1	4	1	5	5	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113343902C>T	ENST00000409719.1	+	3	322	c.269C>T	c.(268-270)gCt>gTt	p.A90V	CHCHD5_ENST00000489052.1_3'UTR|CHCHD5_ENST00000324913.5_Missense_Mutation_p.A90V			Q9BSY4	CHCH5_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 5	90	CHCH.									NS(1)|endometrium(1)|large_intestine(4)|urinary_tract(1)	7						CTGCAGTGCGCTGAGCAGGTG	0.577													T	113343902	C	T	113343902	3	4	364	1	0	0	0	0	1	0	0	0	3349	797	28	2	279	2	CHCHD5	2	113343902	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	113343902	129855471	2098	25600											
SLC20A1	6574	broad.mit.edu	37	chr2	113420496	113420496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaggctgttgactggcGtctctttcgtaacattttta	9	15	9	8	2	1	2	0	1	1	1	3	2	1	2	0	2	1	3	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113420496G>A	ENST00000272542.3	+	11	2473	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	645					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						GTTGACTGGCGTCTCTTTCGT	0.483													A	113420496	G	A	113420496	3	1	364	1	0	0	0	0	1	0	0	0	14532	1145	40	1	1972	1	SLC20A1	2	113420496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76594	113420496	129778877	2099	25601											
CKAP2L	150468	broad.mit.edu	37	chr2	113496489	113496489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttcttccacttctaacaGttcatcaagagaagccacta	12	13	5	11	0	4	1	2	0	2	1	5	2	5	1	2	0	2	2	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113496489G>T	ENST00000541405.1	-	9	2177	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	NT5DC4_ENST00000327581.4_Intron|CKAP2L_ENST00000302450.6_Missense_Mutation_p.L717M			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	717						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						ACTTCTAACAGTTCATCAAGA	0.448													T	113496489	G	T	113496489	3	4	364	1	0	0	0	0	1	0	0	0	3474	1020	36	4	92	4	CKAP2L	2	113496489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75993	113496489	129702884	2100	25602											
CKAP2L	150468	broad.mit.edu	37	chr2	113514748	113514748	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaccttttaggtttgacaGgcaaaacaacatggttggta	12	12	11	6	0	0	1	0	1	0	0	0	2	0	2	1	5	2	4	1	5	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113514748G>T	ENST00000541405.1	-	0	228				CKAP2L_ENST00000302450.6_Missense_Mutation_p.P67H|CKAP2L_ENST00000481732.1_Intron			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like							centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						AGGTTTGACAGGCAAAACAAC	0.383													T	113514748	G	T	113514748	1	4	364	1	0	0	0	0	0	0	0	0	3474	1000	35	4		4	CKAP2L	2	113514748	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18259	113514748	129684625	2101	25603											
IL1B	3553	broad.mit.edu	37	chr2	113590400	113590400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtgtcgaagaagataGgttctgaaatgtggagcaca	13	9	12	7	1	1	3	0	1	1	2	2	5	1	4	1	2	1	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113590400G>T	ENST00000263341.2	-	5	515	c.305C>A	c.(304-306)cCt>cAt	p.P102H	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	102					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GAAGAAGATAGGTTCTGAAAT	0.493													T	113590400	G	T	113590400	3	4	364	1	0	0	0	0	1	0	0	0	7709	1000	35	4	516	4	IL1B	2	113590400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75652	113590400	129608973	2102	25604											
IL1F10	84639	broad.mit.edu	37	chr2	113831905	113831905	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcactgtcatactgtttcaGaattaaatatgcagaccaga	15	11	7	8	0	2	3	2	0	0	3	2	3	2	3	1	0	3	3	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113831905G>A	ENST00000393197.2	+	2	453		c.e2-1		IL1F10_ENST00000337569.3_Intron|IL1F10_ENST00000341010.2_Splice_Site	NM_032556.5	NP_115945.4	Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)							extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						TACTGTTTCAGAATTAAATAT	0.517													A	113831905	G	A	113831905	5	1	364	1	0	0	0	0	0	0	1	0	7710	956	33	2	38	2	IL1F10	2	113831905	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241505	113831905	129367468	2103	25605											
IL1F10	84639	broad.mit.edu	37	chr2	113832239	113832239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctgagcctttacctGccaagagcctgcaacatggg	8	9	10	14	0	0	2	0	1	0	1	1	2	1	2	6	1	7	1	6	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113832239G>A	ENST00000337569.3	+	3	133	c.58G>A	c.(58-60)Gcc>Acc	p.A20T	IL1F10_ENST00000393197.2_Intron|IL1F10_ENST00000341010.2_Intron			Q8WWZ1	IL1FA_HUMAN	interleukin 1 family, member 10 (theta)	20						extracellular space	cytokine activity|interleukin-1 receptor antagonist activity			endometrium(1)|lung(6)|ovary(1)	8						GCCTTTACCTGCCAAGAGCCT	0.572													A	113832239	G	A	113832239	3	1	364	1	0	0	0	0	1	0	0	0	7710	1334	46	2		2	IL1F10	2	113832239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	113832239	129367134	2104	25606											
PAX8	7849	broad.mit.edu	37	chr2	113993142	113993142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtttcctgctttatggCgaagggtgagtgaggatctg	6	12	18	5	1	1	2	0	2	1	0	2	4	2	3	1	5	1	2	1	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:113993142C>T	ENST00000429538.3	-	9	1110	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PAX8_ENST00000348715.5_Intron|AC016683.6_ENST00000553869.2_RNA|AC016683.6_ENST00000333145.5_RNA|PAX8_ENST00000397647.3_Intron|AC016683.6_ENST00000422956.2_RNA|AC016683.6_ENST00000431844.2_RNA|PAX8_ENST00000263334.5_Intron|PAX8_ENST00000263335.7_Intron|AC016683.6_ENST00000451179.1_RNA|AC016683.6_ENST00000437551.1_RNA|AC016683.6_ENST00000456685.1_RNA|AC016683.6_ENST00000556070.1_RNA	NM_003466.3	NP_003457.1	Q06710	PAX8_HUMAN	paired box 8	306					branching involved in ureteric bud morphogenesis|cellular response to gonadotropin stimulus|central nervous system development|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|metanephric collecting duct development|metanephric comma-shaped body morphogenesis|metanephric distal convoluted tubule development|metanephric nephron tubule formation|metanephric S-shaped body morphogenesis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|otic vesicle development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric field specification|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of thyroid-stimulating hormone secretion|thyroid gland development|transcription, DNA-dependent	nucleoplasm	protein binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|thyroid-stimulating hormone receptor activity		PAX8/PPARG(117)	breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|skin(1)	20						TGCTTTATGGCGAAGGGTGAG	0.592			T	PPARG	follicular thyroid		Thyroid dysgenesis						T	113993142	C	T	113993142	3	4	364	1	0	0	0	0	1	0	0	0	11561	768	27	1	452	1	PAX8	2	113993142	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160903	113993142	129206231	2105	25607											
RABL2A	11159	broad.mit.edu	37	chr2	114399652	114399652	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggacgtgccagaccaggaAcagagcagcagcatcgagac	14	2	14	11	2	0	3	0	0	0	3	1	7	0	5	2	2	5	3	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114399652A>G	ENST00000409875.1	+	10	965	c.663A>G	c.(661-663)gaA>gaG	p.E221E	RABL2A_ENST00000393166.3_Silent_p.E211E|RABL2A_ENST00000409842.1_Silent_p.E148E|RABL2A_ENST00000376439.3_Silent_p.E148E|RABL2A_ENST00000393165.3_Silent_p.E212E|RABL2A_ENST00000478880.1_3'UTR|RABL2A_ENST00000393167.3_Silent_p.E211E			Q9UBK7	RBL2A_HUMAN	RAB, member of RAS oncogene family-like 2A	211					small GTPase mediated signal transduction		GTP binding|GTPase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|stomach(3)	9						CAGACCAGGAACAGAGCAGCA	0.602													G	114399652	A	G	114399652	2	3	364	1	0	0	0	0	0	0	0	1	13058	40	2	3		3	RABL2A	2	114399652	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	406510	114399652	128799721	2106	25608											
SLC35F5	80255	broad.mit.edu	37	chr2	114508144	114508144	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtactgggtaaaaacaTactgtagaggaaaaagttac	16	11	10	4	0	0	1	0	0	0	1	0	2	0	2	0	2	4	5	0	2	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114508144T>C	ENST00000245680.2	-	4	688	c.275A>G	c.(274-276)tAt>tGt	p.Y92C	SLC35F5_ENST00000409342.1_Splice_Site_p.Y86C	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	92					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GGTAAAAACATACTGTAGAGG	0.343													C	114508144	T	C	114508144	5	2	364	1	0	0	0	0	0	0	1	0	14686	1420	49	3	1344	3	SLC35F5	2	114508144	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108492	114508144	128691229	2107	25609											
ACTR3	10096	broad.mit.edu	37	chr2	114691959	114691959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtcactcatgtcattcCtgtggtaaggctattttaca	8	16	9	8	0	3	0	3	0	0	0	4	0	4	0	1	3	1	2	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:114691959C>A	ENST00000263238.2	+	6	856	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACTR3_ENST00000536059.1_Missense_Mutation_p.P117H|ACTR3_ENST00000535589.2_Missense_Mutation_p.P128H	NM_001277140.1|NM_005721.3	NP_001264069.1|NP_005712.1	P61158	ARP3_HUMAN	ARP3 actin-related protein 3 homolog (yeast)	179					cellular component movement|cilium morphogenesis	Arp2/3 protein complex	actin binding|ATP binding			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(2)	15						CATGTCATTCCTGTGGTAAGG	0.378													A	114691959	C	A	114691959	3	1	364	1	0	0	0	0	1	0	0	0	212	681	24	4	558	4	ACTR3	2	114691959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183815	114691959	128507414	2108	25610											
DDX18	8886	broad.mit.edu	37	chr2	118577331	118577331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccagataatgatgaagaTgagagtgaggtgcccagtct	14	8	13	6	0	1	6	0	4	1	3	1	7	1	6	2	1	2	0	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:118577331T>C	ENST00000263239.2	+	3	605	c.477T>C	c.(475-477)gaT>gaC	p.D159D	DDX18_ENST00000474694.1_3'UTR	NM_006773.3	NP_006764.3	Q9NVP1	DDX18_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 18	159							ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ATGATGAAGATGAGAGTGAGG	0.403											OREG0003814	type=REGULATORY REGION|Gene=DDX18|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	118577331	T	C	118577331	2	2	364	1	0	0	0	0	0	0	0	1	4379	1461	51	3		3	DDX18	2	118577331	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3885372	118577331	124622042	2109	25611											
EN1	2019	broad.mit.edu	37	chr2	119600595	119600595	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggtgcagcgccaggccGttcttgatgcctgtggcttt	5	12	14	10	2	1	2	0	2	1	0	1	2	1	2	3	3	3	3	3	3	0	3	rs139806570		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:119600595G>A	ENST00000295206.6	-	2	1608	c.1098C>T	c.(1096-1098)aaC>aaT	p.N366N		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	366					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						GCGCCAGGCCGTTCTTGATGC	0.617													A	119600595	G	A	119600595	2	1	364	1	0	0	0	0	0	0	0	1	5150	1136	40	1		1	EN1	2	119600595	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1023264	119600595	123598778	2110	25612											
STEAP3	55240	broad.mit.edu	37	chr2	120005430	120005430	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctggccctggggctctTcgtctgcttctatgcctaca	3	13	10	15	1	3	0	0	0	3	0	4	0	3	0	3	3	4	3	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120005430T>A	ENST00000354888.5	+	4	1172	c.668T>A	c.(667-669)tTc>tAc	p.F223Y	STEAP3_ENST00000393110.2_Missense_Mutation_p.F233Y|STEAP3_ENST00000393108.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000409811.1_Missense_Mutation_p.F223Y|STEAP3_ENST00000450943.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393106.2_Missense_Mutation_p.F223Y|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000425223.2_Missense_Mutation_p.F223Y|STEAP3_ENST00000393107.2_Missense_Mutation_p.F223Y	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	223					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CTGGGGCTCTTCGTCTGCTTC	0.632													A	120005430	T	A	120005430	3	1	364	1	0	0	0	0	1	0	0	0	15375	1783	62	5	708	5	STEAP3	2	120005430	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	404835	120005430	123193943	2111	25613											
TMEM177	80775	broad.mit.edu	37	chr2	120438559	120438559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggatcccgtggtccaaTggctctaccagtactggcct	6	10	10	15	2	1	0	0	0	1	0	4	1	4	1	5	4	2	2	5	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120438559T>C	ENST00000424086.1	+	2	603	c.130T>C	c.(130-132)Tgg>Cgg	p.W44R	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.W44R|TMEM177_ENST00000409951.1_Missense_Mutation_p.W44R|TMEM177_ENST00000401466.1_Missense_Mutation_p.W44R	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	44						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGTGGTCCAATGGCTCTACCA	0.582													C	120438559	T	C	120438559	3	2	364	1	0	0	0	0	1	0	0	0	16194	1464	51	3	132	3	TMEM177	2	120438559	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	433129	120438559	122760814	2112	25614											
PTPN4	5775	broad.mit.edu	37	chr2	120690017	120690017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccccaagtaagccctTggcacggaaattaatggatt	13	9	9	10	1	0	1	0	0	0	1	1	3	1	3	3	3	1	2	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120690017T>C	ENST00000263708.2	+	14	1859	c.1088T>C	c.(1087-1089)tTg>tCg	p.L363S	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	363						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	AGTAAGCCCTTGGCACGGAAA	0.353													C	120690017	T	C	120690017	3	2	364	1	0	0	0	0	1	0	0	0	12878	1821	63	3	1138	3	PTPN4	2	120690017	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	251458	120690017	122509356	2113	25615											
EPB41L5	57669	broad.mit.edu	37	chr2	120799600	120799600	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaagccaaaggacaaGagttgtttgatcagattatg	18	9	10	4	0	1	4	1	1	0	3	1	5	1	5	1	1	1	2	1	1	6	3	rs142458983		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120799600G>T	ENST00000263713.5	+	3	413	c.199G>T	c.(199-201)Gag>Tag	p.E67*	EPB41L5_ENST00000452780.1_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443902.2_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000443124.1_Nonsense_Mutation_p.E67*|EPB41L5_ENST00000331393.4_Nonsense_Mutation_p.E67*	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	67	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						CAAAGGACAAGAGTTGTTTGA	0.348													T	120799600	G	T	120799600	4	4	364	1	0	0	0	0	0	1	0	0	5198	943	33	4	205	4	EPB41L5	2	120799600	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109583	120799600	122399773	2114	25616											
EPB41L5	57669	broad.mit.edu	37	chr2	120834640	120834640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgaagagatggaactggCtatttttgagaaatggaagg	14	10	14	3	0	0	3	0	2	0	2	0	8	0	5	0	4	1	1	0	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120834640C>T	ENST00000263713.5	+	8	813	c.599C>T	c.(598-600)gCt>gTt	p.A200V	EPB41L5_ENST00000452780.1_Missense_Mutation_p.A200V|EPB41L5_ENST00000443902.2_Missense_Mutation_p.A200V|EPB41L5_ENST00000443124.1_Missense_Mutation_p.A200V|EPB41L5_ENST00000331393.4_Missense_Mutation_p.A200V	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	200	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						ATGGAACTGGCTATTTTTGAG	0.373													T	120834640	C	T	120834640	3	4	364	1	0	0	0	0	1	0	0	0	5198	797	28	2	625	2	EPB41L5	2	120834640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35040	120834640	122364733	2115	25617											
EPB41L5	57669	broad.mit.edu	37	chr2	120889207	120889207	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcattaaaagacacCtcagagaagctcaaacagct	16	9	6	10	0	3	2	3	0	0	2	3	3	3	2	1	0	4	3	1	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:120889207C>A	ENST00000263713.5	+	18	1729	c.1515C>A	c.(1513-1515)acC>acA	p.T505T	EPB41L5_ENST00000452780.1_Silent_p.T505T|EPB41L5_ENST00000443902.2_Silent_p.T505T	NM_020909.3	NP_065960.2	Q9HCM4	E41L5_HUMAN	erythrocyte membrane protein band 4.1 like 5	505						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(12)|ovary(1)	26						TAAAAGACACCTCAGAGAAGC	0.438													A	120889207	C	A	120889207	2	1	364	1	0	0	0	0	0	0	0	1	5198	668	24	4		4	EPB41L5	2	120889207	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54567	120889207	122310166	2116	25618											
INHBB	3625	broad.mit.edu	37	chr2	121106699	121106699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgcctcctcccgggtccGcctatacttcttcatctcca	4	12	5	20	3	3	0	1	0	2	0	8	0	6	0	7	1	1	0	7	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121106699G>A	ENST00000295228.3	+	2	519	c.473G>A	c.(472-474)cGc>cAc	p.R158H		NM_002193.2	NP_002184.2	P09529	INHBB_HUMAN	inhibin, beta B	158					activin receptor signaling pathway|cellular response to insulin stimulus|cellular response to starvation|defense response|fat cell differentiation|growth|negative regulation of follicle-stimulating hormone secretion|negative regulation of hepatocyte growth factor biosynthetic process|negative regulation of insulin secretion|ovarian follicle development|positive regulation of follicle-stimulating hormone secretion|positive regulation of ovulation	extracellular region|perinuclear region of cytoplasm	cytokine activity|growth factor activity|hormone activity|host cell surface receptor binding|protein homodimerization activity			NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(4)|pancreas(2)|skin(2)	15		Prostate(154;0.122)				TCCCGGGTCCGCCTATACTTC	0.557													A	121106699	G	A	121106699	3	1	364	1	0	0	0	0	1	0	0	0	7800	1087	38	1	479	1	INHBB	2	121106699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217492	121106699	122092674	2117	25619											
GLI2	2736	broad.mit.edu	37	chr2	121746916	121746916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgaacaaaaataacatGcctgtgcagtggaatgaggt	15	8	11	7	0	0	2	0	2	0	0	0	3	0	3	2	2	5	1	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121746916G>A	ENST00000452319.1	+	14	3486	c.3426G>A	c.(3424-3426)atG>atA	p.M1142I	GLI2_ENST00000314490.11_Missense_Mutation_p.M814I|GLI2_ENST00000361492.4_Missense_Mutation_p.M1142I			P10070	GLI2_HUMAN	GLI family zinc finger 2	1142					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AAAATAACATGCCTGTGCAGT	0.637													A	121746916	G	A	121746916	3	1	364	1	0	0	0	0	1	0	0	0	6494	1319	46	2	3476	2	GLI2	2	121746916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	640217	121746916	121452457	2118	25620											
TFCP2L1	29842	broad.mit.edu	37	chr2	121995414	121995414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcctccaccgggtgggtCggagaggcgttgctgcaagg	6	6	19	10	3	0	1	0	0	0	1	2	2	1	1	3	6	2	3	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:121995414C>T	ENST00000263707.5	-	9	970	c.873G>A	c.(871-873)ccG>ccA	p.P291P		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	291					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CCGGGTGGGTCGGAGAGGCGT	0.637													T	121995414	C	T	121995414	2	4	364	1	0	0	0	0	0	0	0	1	15896	871	31	1		1	TFCP2L1	2	121995414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248498	121995414	121203959	2119	25621											
CLASP1	23332	broad.mit.edu	37	chr2	122106112	122106112	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaagcctgggatgatgtcGacaaggagctgcagcaatga	13	6	14	8	1	0	2	0	2	0	0	1	5	0	4	1	2	5	4	1	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122106112G>A	ENST00000263710.4	-	38	4778	c.4389C>T	c.(4387-4389)gtC>gtT	p.V1463V	CLASP1_ENST00000455322.2_Silent_p.V1419V|CLASP1_ENST00000545861.1_Silent_p.V1170V|CLASP1_ENST00000397587.3_Silent_p.V1403V|CLASP1_ENST00000409078.3_Silent_p.V1396V|CLASP1_ENST00000541859.1_Silent_p.V1180V|CLASP1_ENST00000541377.1_Silent_p.V1402V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1463	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					GGATGATGTCGACAAGGAGCT	0.567													A	122106112	G	A	122106112	2	1	364	1	0	0	0	0	0	0	0	1	3485	1045	37	1		1	CLASP1	2	122106112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110698	122106112	121093261	2120	25622											
CLASP1	23332	broad.mit.edu	37	chr2	122125203	122125203	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtcatcgaacacagcctCtttcagggcggtcttgtcgt	6	12	11	12	4	4	0	2	0	2	0	7	1	4	0	1	2	2	0	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122125203C>A	ENST00000263710.4	-	35	4236	c.3847G>T	c.(3847-3849)Gag>Tag	p.E1283*	CLASP1_ENST00000455322.2_Nonsense_Mutation_p.E1239*|CLASP1_ENST00000545861.1_Nonsense_Mutation_p.E990*|CLASP1_ENST00000397587.3_Nonsense_Mutation_p.E1223*|CLASP1_ENST00000409078.3_Nonsense_Mutation_p.E1216*|CLASP1_ENST00000541859.1_Nonsense_Mutation_p.E1000*|CLASP1_ENST00000541377.1_Nonsense_Mutation_p.E1222*	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	1283	Interaction with CLIP2 (By similarity).|Interaction with PHLDB2 and RSN.|Localization to kinetochores.				axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					AACACAGCCTCTTTCAGGGCG	0.607													A	122125203	C	A	122125203	4	1	364	1	0	0	0	0	0	1	0	0	3485	922	32	4	793	4	CLASP1	2	122125203	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19091	122125203	121074170	2121	25623											
CLASP1	23332	broad.mit.edu	37	chr2	122273251	122273251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcactcaccgggactgtgGcaatccttttttactgagat	8	13	9	11	1	1	1	1	1	0	1	2	3	2	2	2	2	2	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122273251G>A	ENST00000263710.4	-	7	1023	c.634C>T	c.(634-636)Cca>Tca	p.P212S	CLASP1_ENST00000455322.2_Missense_Mutation_p.P212S|CLASP1_ENST00000397587.3_Missense_Mutation_p.P212S|CLASP1_ENST00000409078.3_Missense_Mutation_p.P212S|CLASP1_ENST00000541377.1_Missense_Mutation_p.P212S	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	212					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CGGGACTGTGGCAATCCTTTT	0.423													A	122273251	G	A	122273251	3	1	364	1	0	0	0	0	1	0	0	0	3485	1203	42	2	4170	2	CLASP1	2	122273251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148048	122273251	120926122	2122	25624											
CLASP1	23332	broad.mit.edu	37	chr2	122285375	122285375	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctcatcccagacttacGcattgagtgttgctataagg	10	11	10	10	1	1	2	1	1	0	1	2	2	2	2	1	2	2	4	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122285375G>A	ENST00000263710.4	-	5	859	c.470C>T	c.(469-471)gCc>gTc	p.A157V	CLASP1_ENST00000455322.2_Splice_Site_p.A157V|CLASP1_ENST00000397587.3_Splice_Site_p.A157V|CLASP1_ENST00000409078.3_Splice_Site_p.A157V|CLASP1_ENST00000541377.1_Splice_Site_p.A157V	NM_015282.2	NP_056097.1	Q7Z460	CLAP1_HUMAN	cytoplasmic linker associated protein 1	157					axon guidance|cell division|establishment or maintenance of cell polarity|exit from mitosis|G2/M transition of mitotic cell cycle|microtubule anchoring|microtubule bundle formation|microtubule nucleation|microtubule organizing center organization|mitotic prometaphase|negative regulation of microtubule depolymerization	centrosomal corona|condensed chromosome kinetochore|cortical microtubule cytoskeleton|cytoplasmic microtubule|cytosol|Golgi apparatus|kinetochore microtubule	kinetochore binding|microtubule plus-end binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)	47	Renal(3;0.0496)					CCAGACTTACGCATTGAGTGT	0.383													A	122285375	G	A	122285375	5	1	364	1	0	0	0	0	0	0	1	0	3485	1101	38	1	4342	1	CLASP1	2	122285375	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12124	122285375	120913998	2123	25625											
TSN	7247	broad.mit.edu	37	chr2	122522801	122522801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctggattccggttttcGccttctcaacctgaaaaatg	9	13	9	10	2	1	2	1	2	1	0	4	3	2	3	3	2	2	2	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:122522801G>A	ENST00000389682.3	+	6	792	c.545G>A	c.(544-546)cGc>cAc	p.R182H	TSN_ENST00000498545.1_3'UTR|TSN_ENST00000409193.1_Missense_Mutation_p.R177H|TSN_ENST00000536142.1_3'UTR	NM_001261401.1|NM_004622.2	NP_001248330.1|NP_004613.1	Q15631	TSN_HUMAN	translin	182	Leucine-zipper (Potential).				DNA recombination	cytoplasm|nucleus	sequence-specific DNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(3)|skin(1)	12		Ovarian(717;0.0563)|Prostate(154;0.116)				TCCGGTTTTCGCCTTCTCAAC	0.512													A	122522801	G	A	122522801	3	1	364	1	0	0	0	0	1	0	0	0	16730	1087	38	1	567	1	TSN	2	122522801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	237426	122522801	120676572	2124	25626											
BIN1	274	broad.mit.edu	37	chr2	127825747	127825747	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccagtgtcacctgatttcGgagcaggttagtttgagcta	9	12	12	8	1	1	2	1	2	0	0	2	3	1	3	2	2	3	4	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127825747G>A	ENST00000316724.5	-	7	1015	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BIN1_ENST00000348750.4_Intron|BIN1_ENST00000357970.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000351659.3_Nonsense_Mutation_p.R202*|BIN1_ENST00000393041.3_Intron|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000346226.3_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000376113.2_Intron	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	202	BAR.				cell proliferation|endocytosis|interspecies interaction between organisms|multicellular organismal development	actin cytoskeleton|nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		ACCTGATTTCGGAGCAGGTTA	0.612											OREG0014963	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	127825747	G	A	127825747	4	1	364	1	0	0	0	0	0	1	0	0	1438	1124	39	1	1278	1	BIN1	2	127825747	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5302946	127825747	115373626	2125	25627											
CYP27C1	339761	broad.mit.edu	37	chr2	127944866	127944866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttactttctgttaacaaatCgcacgtggatgggcccccct	8	12	8	13	2	1	0	0	0	1	0	2	1	1	1	3	2	2	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944866C>T	ENST00000335247.7	-	8	1230	c.1100G>A	c.(1099-1101)cGa>cAa	p.R367Q	CYP27C1_ENST00000409327.1_Missense_Mutation_p.R367Q	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1	367						membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTAACAAATCGCACGTGGAT	0.493													T	127944866	C	T	127944866	3	4	364	1	0	0	0	0	1	0	0	0	4193	884	31	1	22	1	CYP27C1	2	127944866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119119	127944866	115254507	2126	25628											
CYP27C1	339761	broad.mit.edu	37	chr2	127944964	127944964	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcaaaatgttgaagcaaCtaagaagagaaagagagaga	21	6	10	4	0	1	5	1	1	1	4	2	8	1	5	0	0	2	2	0	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:127944964C>A	ENST00000335247.7	-	8	1133		c.e8-1		CYP27C1_ENST00000409327.1_Splice_Site	NM_001001665.3	NP_001001665.3	Q4G0S4	C27C1_HUMAN	cytochrome P450, family 27, subfamily C, polypeptide 1							membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)	16	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.071)		GTTGAAGCAACTAAGAAGAGA	0.498													A	127944964	C	A	127944964	5	1	364	1	0	0	0	0	0	0	1	0	4193	579	20	4	120	4	CYP27C1	2	127944964	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98	127944964	115254409	2127	25629											
ERCC3	2071	broad.mit.edu	37	chr2	128016959	128016959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggactttctgtaagagctgCtgttgctcttcttttgtcga	6	17	10	8	1	3	1	0	0	3	1	4	3	3	2	0	1	3	5	0	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128016959C>A	ENST00000493187.2	-	14	2401	c.1938G>T	c.(1936-1938)caG>caT	p.Q646H	ERCC3_ENST00000285398.2_Missense_Mutation_p.Q710H			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	710	Helicase C-terminal.				cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GTAAGAGCTGCTGTTGCTCTT	0.552			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	128016959	C	A	128016959	3	1	364	1	0	0	0	0	1	0	0	0	5255	796	28	4	226	4	ERCC3	2	128016959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71995	128016959	115182414	2128	25630											
MAP3K2	10746	broad.mit.edu	37	chr2	128072388	128072388	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taatggacaccctccagaatCtgacgggtgtatttcctagt	10	12	9	10	1	1	2	0	1	1	1	3	3	3	3	3	2	0	1	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128072388C>T	ENST00000409947.1	-	15	1680	c.1398G>A	c.(1396-1398)caG>caA	p.Q466Q	MAP3K2_ENST00000344908.5_Silent_p.Q466Q			Q9Y2U5	M3K2_HUMAN	mitogen-activated protein kinase kinase kinase 2	466	Protein kinase.				activation of JUN kinase activity|cellular response to mechanical stimulus	nucleus	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein kinase binding			central_nervous_system(1)|large_intestine(1)|lung(3)|ovary(2)	7	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0706)		CCTCCAGAATCTGACGGGTGT	0.343													T	128072388	C	T	128072388	2	4	364	1	0	0	0	0	0	0	0	1	9325	912	32	2		2	MAP3K2	2	128072388	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55429	128072388	115126985	2129	25631											
PROC	5624	broad.mit.edu	37	chr2	128183683	128183683	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcccttgtgggaggccCtggaagcggatggagaagaa	11	7	16	7	1	0	2	0	0	0	2	1	6	1	5	2	5	1	1	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128183683C>A	ENST00000453608.2	+	6	731	c.723C>A	c.(721-723)ccC>ccA	p.P241P	PROC_ENST00000422777.3_Silent_p.P186P|PROC_ENST00000409048.1_Silent_p.P220P|PROC_ENST00000234071.3_Silent_p.P186P			P04070	PROC_HUMAN	protein C (inactivator of coagulation factors Va and VIIIa)	186	Peptidase S1.				blood coagulation|leukocyte migration|negative regulation of apoptosis|negative regulation of blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|protein binding|serine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)	15	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0673)	Antihemophilic Factor(DB00025)|Drotrecogin alfa(DB00055)|Menadione(DB00170)|Sodium Tetradecyl Sulfate(DB00464)	GTGGGAGGCCCTGGAAGCGGA	0.592													A	128183683	C	A	128183683	2	1	364	1	0	0	0	0	0	0	0	1	12631	668	24	4		4	PROC	2	128183683	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111295	128183683	115015690	2130	25632											
IWS1	55677	broad.mit.edu	37	chr2	128252448	128252448	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaaaacaaaatacttacTtcttaaggtgcataactaca	20	10	4	7	0	1	1	0	0	1	1	1	1	1	1	0	1	6	1	0	1	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128252448T>G	ENST00000295321.4	-	8	2058	c.1799A>C	c.(1798-1800)aAg>aCg	p.K600T	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_3'UTR	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	600					transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AAATACTTACTTCTTAAGGTG	0.289													G	128252448	T	G	128252448	5	3	364	1	0	0	0	0	0	0	1	0	7989	1623	56	5	688	5	IWS1	2	128252448	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68765	128252448	114946925	2131	25633											
IWS1	55677	broad.mit.edu	37	chr2	128260962	128260962	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttatactgtcacttaCtcttcttcattgcctgactc	7	18	4	12	0	5	1	3	1	2	0	6	1	5	1	1	0	3	1	1	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128260962C>A	ENST00000295321.4	-	4	1669		c.e4+1		AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Splice_Site	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)						transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		CTGTCACTTACTCTTCTTCAT	0.403													A	128260962	C	A	128260962	5	1	364	1	0	0	0	0	0	0	1	0	7989	579	20	4	1093	4	IWS1	2	128260962	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8514	128260962	114938411	2132	25634											
IWS1	55677	broad.mit.edu	37	chr2	128262702	128262702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttctgagtcactggcCtggtgcctcggagggtcctc	4	13	12	12	1	3	1	2	1	1	0	6	2	4	2	3	4	1	0	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262702C>A	ENST00000295321.4	-	3	1036	c.777G>T	c.(775-777)caG>caT	p.Q259H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.Q266H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	259	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		AGTCACTGGCCTGGTGCCTCG	0.537													A	128262702	C	A	128262702	3	1	364	1	0	0	0	0	1	0	0	0	7989	680	24	4	1730	4	IWS1	2	128262702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1740	128262702	114936671	2133	25635											
IWS1	55677	broad.mit.edu	37	chr2	128262742	128262742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactttctgagtcactgataCgaggtttgggaagctcctca	9	12	10	10	1	3	2	2	2	1	0	4	4	4	3	1	2	2	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128262742C>T	ENST00000295321.4	-	3	996	c.737G>A	c.(736-738)cGt>cAt	p.R246H	AC010976.2_ENST00000599001.1_RNA|IWS1_ENST00000455721.2_Missense_Mutation_p.R253H	NM_017969.2	NP_060439.2	Q96ST2	IWS1_HUMAN	IWS1 homolog (S. cerevisiae)	246	3 X approximate tandem repeats.|Glu-rich.				transcription, DNA-dependent	nucleus	DNA binding			cervix(1)|endometrium(2)|kidney(6)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0735)		GTCACTGATACGAGGTTTGGG	0.517													T	128262742	C	T	128262742	3	4	364	1	0	0	0	0	1	0	0	0	7989	536	19	1	1770	1	IWS1	2	128262742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40	128262742	114936631	2134	25636											
MYO7B	4648	broad.mit.edu	37	chr2	128354116	128354116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcatccagaaagtccttcGgggctacagatacaggtgcc	11	7	11	12	1	0	2	0	0	0	2	3	2	2	2	3	3	4	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128354116G>A	ENST00000389524.4	+	19	2377	c.2324G>A	c.(2323-2325)cGg>cAg	p.R775Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R775Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.R775Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	775	IQ 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AAAGTCCTTCGGGGCTACAGA	0.617													A	128354116	G	A	128354116	3	1	364	1	0	0	0	0	1	0	0	0	10159	1116	39	1	2394	1	MYO7B	2	128354116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91374	128354116	114845257	2135	25637											
MYO7B	4648	broad.mit.edu	37	chr2	128367143	128367143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacagtccccatggcggaGgagcctgaggaggatgtgga	10	5	17	9	1	0	1	0	1	0	0	1	7	1	6	3	6	1	0	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128367143G>T	ENST00000389524.4	+	23	2930	c.2877G>T	c.(2875-2877)gaG>gaT	p.E959D	MYO7B_ENST00000428314.1_Missense_Mutation_p.E959D|MYO7B_ENST00000409816.2_Missense_Mutation_p.E959D			Q6PIF6	MYO7B_HUMAN	myosin VIIB	959						apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCATGGCGGAGGAGCCTGAGG	0.582													T	128367143	G	T	128367143	3	4	364	1	0	0	0	0	1	0	0	0	10159	991	35	4	2963	4	MYO7B	2	128367143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13027	128367143	114832230	2136	25638											
MYO7B	4648	broad.mit.edu	37	chr2	128381746	128381746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatggcccaggagaggggcGagagccagcgccagtcaccc	10	2	16	13	2	1	3	1	0	0	3	1	5	1	3	4	4	2	0	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128381746G>A	ENST00000389524.4	+	29	3873	c.3820G>A	c.(3820-3822)Gag>Aag	p.E1274K	MYO7B_ENST00000428314.1_Missense_Mutation_p.E1274K|MYO7B_ENST00000409090.1_Missense_Mutation_p.E127K|MYO7B_ENST00000409816.2_Missense_Mutation_p.E1274K			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1274	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGAGAGGGGCGAGAGCCAGCG	0.642													A	128381746	G	A	128381746	3	1	364	1	0	0	0	0	1	0	0	0	10159	1059	37	1	3930	1	MYO7B	2	128381746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14603	128381746	114817627	2137	25639											
MYO7B	4648	broad.mit.edu	37	chr2	128391772	128391772	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaggtggttgccaacAcacgggtgcgggatgtgtgt	6	10	18	7	2	0	0	0	0	0	0	0	2	0	2	1	5	4	2	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128391772A>G	ENST00000389524.4	+	40	5511	c.5458A>G	c.(5458-5460)Aca>Gca	p.T1820A	MYO7B_ENST00000428314.1_Missense_Mutation_p.T1819A|MYO7B_ENST00000409090.1_Missense_Mutation_p.T672A|MYO7B_ENST00000409816.2_Missense_Mutation_p.T1819A			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1819	FERM 2.|MyTH4 3.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGTTGCCAACACACGGGTGCG	0.637													G	128391772	A	G	128391772	3	3	364	1	0	0	0	0	1	0	0	0	10159	159	6	3	5609	3	MYO7B	2	128391772	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10026	128391772	114807601	2138	25640											
WDR33	55339	broad.mit.edu	37	chr2	128476856	128476856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctggttgaagggggcccGgggcccatcacctagcagag	8	6	15	12	1	1	2	1	1	0	1	1	2	1	2	4	5	2	2	4	5	3	3	rs138525316		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128476856G>A	ENST00000322313.4	-	16	2901	c.2743C>T	c.(2743-2745)Cgg>Tgg	p.R915W		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	915					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)		AAGGGGGCCCGGGGCCCATCA	0.517													A	128476856	G	A	128476856	3	1	364	1	0	0	0	0	1	0	0	0	17389	1115	39	1	1295	1	WDR33	2	128476856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85084	128476856	114722517	2139	25641											
WDR33	55339	broad.mit.edu	37	chr2	128480179	128480179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacctgctggaactgagCaggaatgggttttgcataag	11	11	12	7	0	0	1	0	1	0	0	0	3	0	3	1	3	5	4	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128480179C>T	ENST00000322313.4	-	14	1662	c.1504G>A	c.(1504-1506)Gct>Act	p.A502T		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	502					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)		TGGAACTGAGCAGGAATGGGT	0.418													T	128480179	C	T	128480179	3	4	364	1	0	0	0	0	1	0	0	0	17389	710	25	2	2542	2	WDR33	2	128480179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3323	128480179	114719194	2140	25642											
AMMECR1L	83607	broad.mit.edu	37	chr2	128631594	128631594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgtgtgatgggagagtttCcaggtcccagagttaagtct	8	13	13	7	1	1	3	0	1	1	2	4	4	3	3	2	2	0	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128631594C>T	ENST00000272647.5	-	3	475	c.215G>A	c.(214-216)gGa>gAa	p.G72E	AMMECR1L_ENST00000393001.1_Missense_Mutation_p.G72E	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	72										central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		GGGAGAGTTTCCAGGTCCCAG	0.547													T	128631594	C	T	128631594	3	4	364	1	0	0	0	0	1	0	0	0	579	855	30	2	741	2	AMMECR1L	2	128631594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	151415	128631594	114567779	2141	25643											
SAP130	79595	broad.mit.edu	37	chr2	128757937	128757937	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcagggtgagatggtaGtgtgattcttgttgtgacat	9	15	14	3	0	1	3	0	3	1	1	1	4	1	3	0	2	1	3	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128757937G>T	ENST00000357702.5	-	8	1170	c.1039C>A	c.(1039-1041)Cta>Ata	p.L347I	SAP130_ENST00000259234.6_Missense_Mutation_p.L321I|SAP130_ENST00000259235.3_Missense_Mutation_p.L347I	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	347					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TGAGATGGTAGTGTGATTCTT	0.473													T	128757937	G	T	128757937	3	4	364	1	0	0	0	0	1	0	0	0	13922	1020	36	4	2268	4	SAP130	2	128757937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126343	128757937	114441436	2142	25644											
SAP130	79595	broad.mit.edu	37	chr2	128767870	128767870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatcagtagcatgcgccGctgtcgtagtgatgactgga	9	10	13	9	3	1	3	1	3	0	0	2	4	1	4	1	1	2	4	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128767870G>A	ENST00000357702.5	-	7	1051	c.920C>T	c.(919-921)gCg>gTg	p.A307V	SAP130_ENST00000259234.6_Missense_Mutation_p.A281V|SAP130_ENST00000259235.3_Missense_Mutation_p.A307V	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	307					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCATGCGCCGCTGTCGTAGT	0.517													A	128767870	G	A	128767870	3	1	364	1	0	0	0	0	1	0	0	0	13922	1087	38	1	2391	1	SAP130	2	128767870	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9933	128767870	114431503	2143	25645											
UGGT1	56886	broad.mit.edu	37	chr2	128877980	128877980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagaactcagaaagcatcTtgtagagagcaccaatgaaa	19	6	9	7	0	2	4	1	1	1	3	2	6	2	4	1	0	3	3	1	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128877980T>C	ENST00000375990.3	+	9	1254	c.851T>C	c.(850-852)cTt>cCt	p.L284P	UGGT1_ENST00000259253.6_Missense_Mutation_p.L308P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	308					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAAGCATCTTGTAGAGAGC	0.403													C	128877980	T	C	128877980	3	2	364	1	0	0	0	0	1	0	0	0	17043	1609	56	3	957	3	UGGT1	2	128877980	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	110110	128877980	114321393	2144	25646											
UGGT1	56886	broad.mit.edu	37	chr2	128900742	128900742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcctggagaagaaatatccGtatgtagaagtgaatagcat	15	10	11	5	1	0	4	0	1	0	3	2	5	2	4	2	1	1	3	2	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128900742G>A	ENST00000375990.3	+	17	2125	c.1722G>A	c.(1720-1722)ccG>ccA	p.P574P	UGGT1_ENST00000259253.6_Silent_p.P598P			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	598					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGAAATATCCGTATGTAGAAG	0.353													A	128900742	G	A	128900742	2	1	364	1	0	0	0	0	0	0	0	1	17043	1132	40	1		1	UGGT1	2	128900742	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22762	128900742	114298631	2145	25647											
UGGT1	56886	broad.mit.edu	37	chr2	128922353	128922353	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttctgtcagcgcaaccaAaaggagatccaagaatcgag	14	7	9	11	2	3	2	1	0	2	2	5	4	4	2	2	1	2	1	2	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:128922353A>G	ENST00000375990.3	+	26	3206	c.2803A>G	c.(2803-2805)Aaa>Gaa	p.K935E	UGGT1_ENST00000259253.6_Missense_Mutation_p.K959E			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	959					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCGCAACCAAAAGGAGATCC	0.363													G	128922353	A	G	128922353	3	3	364	1	0	0	0	0	1	0	0	0	17043	15	1	3	2977	3	UGGT1	2	128922353	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21611	128922353	114277020	2146	25648											
POTEF	728378	broad.mit.edu	37	chr2	130832316	130832316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttctctttgatgtcaCgcacgatttcccgctcggcc	6	12	8	15	4	2	1	1	1	1	0	5	2	3	1	2	1	1	3	2	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130832316C>T	ENST00000357462.5	-	15	2822	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	POTEF_ENST00000409914.2_Missense_Mutation_p.R910H			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	910	Actin-like.					cell cortex	ATP binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						TTTGATGTCACGCACGATTTC	0.592													T	130832316	C	T	130832316	3	4	364	1	0	0	0	0	1	0	0	0	12342	536	19	1	502	1	POTEF	2	130832316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1909963	130832316	112367057	2147	25649											
CCDC74B	91409	broad.mit.edu	37	chr2	130897934	130897934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgcgttagaggcctctgCtttctcctttctgaaacagt	6	15	8	12	1	3	2	0	1	3	1	5	2	4	2	3	1	3	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:130897934C>T	ENST00000392984.3	-	4	1743	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	CCDC74B_ENST00000409943.3_Missense_Mutation_p.A166T|CCDC74B_ENST00000310463.6_Missense_Mutation_p.A232T			Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	232										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					GAGGCCTCTGCTTTCTCCTTT	0.637													T	130897934	C	T	130897934	3	4	364	1	0	0	0	0	1	0	0	0	2876	797	28	2	464	2	CCDC74B	2	130897934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65618	130897934	112301439	2148	25650											
PTPN18	26469	broad.mit.edu	37	chr2	131116870	131116870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcgactacattaatggCaacttcatccgggtgagggt	11	9	11	10	2	1	1	1	1	0	0	2	2	2	1	1	3	3	1	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131116870C>T	ENST00000175756.5	+	3	368	c.267C>T	c.(265-267)ggC>ggT	p.G89G	PTPN18_ENST00000420717.1_3'UTR|PTPN18_ENST00000347849.3_Intron	NM_014369.3	NP_055184.2	Q99952	PTN18_HUMAN	protein tyrosine phosphatase, non-receptor type 18 (brain-derived)	89	Tyrosine-protein phosphatase.					cytoplasm|nucleus	non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)	15	Colorectal(110;0.1)					ACATTAATGGCAACTTCATCC	0.567													T	131116870	C	T	131116870	2	4	364	1	0	0	0	0	0	0	0	1	12870	697	25	2		2	PTPN18	2	131116870	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218936	131116870	112082503	2149	25651											
ARHGEF4	50649	broad.mit.edu	37	chr2	131803000	131803000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgccagcaagcagcaGgtcacagggaagcccaaagg	14	3	13	11	0	1	1	1	1	0	0	1	2	1	2	2	3	5	3	2	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:131803000G>T	ENST00000392953.3	+	13	2421	c.1902G>T	c.(1900-1902)caG>caT	p.Q634H	ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q563H|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q574H|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q634H|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q634H	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	634					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GCAAGCAGCAGGTCACAGGGA	0.612													T	131803000	G	T	131803000	3	4	364	1	0	0	0	0	1	0	0	0	911	991	35	4	1944	4	ARHGEF4	2	131803000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	686130	131803000	111396373	2150	25652											
POTEE	445582	broad.mit.edu	37	chr2	132021757	132021757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgagcgggaaatcgtgcGtgacatcaaagagaagctgt	12	6	15	8	4	1	2	1	1	0	1	2	5	1	3	1	2	3	1	1	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:132021757G>A	ENST00000356920.5	+	15	2823	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.						ATP binding										GAAATCGTGCGTGACATCAAA	0.602													A	132021757	G	A	132021757	3	1	364	1	0	0	0	0	1	0	0	0	12341	1145	40	1	2787	1	POTEE	2	132021757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218757	132021757	111177616	2151	25653											
GPR39	2863	broad.mit.edu	37	chr2	133174975	133174975	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcgaggcctgcagctaCgctacgctgctgcacgtgct	5	10	11	15	4	1	0	0	0	1	0	2	1	1	0	1	1	7	7	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133174975C>T	ENST00000329321.3	+	1	829	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	120						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGCAGCTACGCTACGCTGC	0.577													T	133174975	C	T	133174975	2	4	364	1	0	0	0	0	0	0	0	1	6747	547	19	1		1	GPR39	2	133174975	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1153218	133174975	110024398	2152	25654											
NCKAP5	344148	broad.mit.edu	37	chr2	133541148	133541148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatacacttttggaggacGtcatttccagtggctcatgg	9	12	12	8	1	2	1	2	0	0	1	3	4	3	3	1	4	1	1	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133541148G>A	ENST00000409261.1	-	14	3609	c.3236C>T	c.(3235-3237)aCg>aTg	p.T1079M	NCKAP5_ENST00000317721.6_Missense_Mutation_p.T1079M|NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1079							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TTTGGAGGACGTCATTTCCAG	0.507													A	133541148	G	A	133541148	3	1	364	1	0	0	0	0	1	0	0	0	10299	1145	40	1	2521	1	NCKAP5	2	133541148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366173	133541148	109658225	2153	25655											
NCKAP5	344148	broad.mit.edu	37	chr2	133887564	133887564	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatacctggagaactgctgCtgcaagctacgcatctgaat	12	9	9	11	1	1	2	0	1	1	1	1	3	1	2	1	1	7	5	1	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:133887564C>A	ENST00000409261.1	-	6	700	c.327G>T	c.(325-327)caG>caT	p.Q109H	NCKAP5_ENST00000317721.6_Missense_Mutation_p.Q109H|NCKAP5_ENST00000409213.1_Missense_Mutation_p.Q109H|NCKAP5_ENST00000405974.3_Missense_Mutation_p.Q109H	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	109							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						AGAACTGCTGCTGCAAGCTAC	0.483													A	133887564	C	A	133887564	3	1	364	1	0	0	0	0	1	0	0	0	10299	796	28	4	5462	4	NCKAP5	2	133887564	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346416	133887564	109311809	2154	25656											
TMEM163	81615	broad.mit.edu	37	chr2	135215669	135215669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtccaggtaccagaccGccgagtcatgcttgaacact	9	8	10	14	3	1	2	1	1	0	1	2	3	2	2	5	1	4	2	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135215669G>A	ENST00000281924.6	-	7	807	c.743C>T	c.(742-744)gCg>gTg	p.A248V		NM_030923.4	NP_112185.1	Q8TC26	TM163_HUMAN	transmembrane protein 163	248						integral to membrane				endometrium(1)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.154)		GTACCAGACCGCCGAGTCATG	0.542													A	135215669	G	A	135215669	3	1	364	1	0	0	0	0	1	0	0	0	16178	1087	38	1	134	1	TMEM163	2	135215669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1328105	135215669	107983704	2155	25657											
ACMSD	130013	broad.mit.edu	37	chr2	135616830	135616830	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgggttttctgccccaGggagaagcaaagttgttgaa	11	11	13	6	0	1	2	0	1	1	1	1	3	1	2	2	2	2	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135616830G>T	ENST00000356140.5	+	3	238		c.e3-1		AC016725.4_ENST00000392929.2_RNA|ACMSD_ENST00000392928.1_Splice_Site|ACMSD_ENST00000283054.4_Splice_Site	NM_138326.2	NP_612199.2	Q8TDX5	ACMSD_HUMAN	aminocarboxymuconate semialdehyde decarboxylase						quinolinate metabolic process|tryptophan catabolic process	cytosol	aminocarboxymuconate-semialdehyde decarboxylase activity|metal ion binding			endometrium(3)|large_intestine(4)|lung(6)|skin(1)	14				BRCA - Breast invasive adenocarcinoma(221;0.115)		TTCTGCCCCAGGGAGAAGCAA	0.403													T	135616830	G	T	135616830	5	4	364	1	0	0	0	0	0	0	1	0	144	1014	35	4	112	4	ACMSD	2	135616830	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	401161	135616830	107582543	2156	25658											
CCNT2	905	broad.mit.edu	37	chr2	135696617	135696617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttatacttgaaaccataAtgctacaaactctaggtacg	14	12	7	8	1	1	1	0	1	1	0	1	1	1	1	1	2	6	3	1	2	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135696617A>C	ENST00000264157.5	+	4	445	c.415A>C	c.(415-417)Atg>Ctg	p.M139L	CCNT2_ENST00000537343.1_5'UTR|CCNT2_ENST00000295238.6_Missense_Mutation_p.M139L	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	139					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGAAACCATAATGCTACAAAC	0.284													C	135696617	A	C	135696617	3	2	364	1	0	0	0	0	1	0	0	0	2965	101	4	5	429	5	CCNT2	2	135696617	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	79787	135696617	107502756	2157	25659											
CCNT2	905	broad.mit.edu	37	chr2	135711150	135711150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagacatctttgtctggtagCcagtacaacatcaacttcca	12	11	7	11	0	3	1	1	0	2	1	4	2	4	1	2	1	4	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711150C>T	ENST00000264157.5	+	9	1155	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	CCNT2_ENST00000537343.1_Silent_p.S200S|CCNT2_ENST00000295238.6_Silent_p.S375S	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	375					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		TGTCTGGTAGCCAGTACAACA	0.423													T	135711150	C	T	135711150	2	4	364	1	0	0	0	0	0	0	0	1	2965	738	26	2		2	CCNT2	2	135711150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14533	135711150	107488223	2158	25660											
CCNT2	905	broad.mit.edu	37	chr2	135711799	135711799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggcagtaaacacagtgccGacggaataccacccactgtt	12	7	10	12	2	0	0	0	0	0	0	0	2	0	1	3	2	3	3	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:135711799G>A	ENST00000264157.5	+	9	1804	c.1774G>A	c.(1774-1776)Gac>Aac	p.D592N	CCNT2_ENST00000537343.1_Missense_Mutation_p.D417N|CCNT2_ENST00000295238.6_Missense_Mutation_p.D592N	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	592					cell cycle|cell division|interspecies interaction between organisms|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein kinase binding			endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		ACACAGTGCCGACGGAATACC	0.557													A	135711799	G	A	135711799	3	1	364	1	0	0	0	0	1	0	0	0	2965	1058	37	1	1808	1	CCNT2	2	135711799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	649	135711799	107487574	2159	25661											
R3HDM1	23518	broad.mit.edu	37	chr2	136409340	136409340	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttagccacatgagtcttgCtcgccagccatctgctgatg	7	12	10	12	1	2	2	0	2	2	0	3	2	2	2	3	0	4	3	3	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136409340C>A	ENST00000264160.4	+	17	2031	c.1661C>A	c.(1660-1662)gCt>gAt	p.A554D	R3HDM1_ENST00000410054.1_Missense_Mutation_p.A499D|R3HDM1_ENST00000409478.1_Missense_Mutation_p.A426D|R3HDM1_ENST00000329971.3_Missense_Mutation_p.A425D|R3HDM1_ENST00000409606.1_Missense_Mutation_p.A555D	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	554							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ATGAGTCTTGCTCGCCAGCCA	0.458													A	136409340	C	A	136409340	3	1	364	1	0	0	0	0	1	0	0	0	12975	797	28	4	1719	4	R3HDM1	2	136409340	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697541	136409340	106790033	2160	25662											
UBXN4	23190	broad.mit.edu	37	chr2	136513157	136513157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagttcagtgtctactccatCtgcgtcatttgaacctaaca	11	13	6	11	1	4	1	2	1	2	0	5	1	5	1	2	0	4	1	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136513157C>T	ENST00000272638.9	+	5	715	c.404C>T	c.(403-405)tCt>tTt	p.S135F	UBXN4_ENST00000490163.1_3'UTR	NM_014607.3	NP_055422.1	Q92575	UBXN4_HUMAN	UBX domain protein 4	135					response to unfolded protein	endoplasmic reticulum membrane|nuclear envelope	protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	24						TCTACTCCATCTGCGTCATTT	0.383													T	136513157	C	T	136513157	3	4	364	1	0	0	0	0	1	0	0	0	17018	913	32	2	422	2	UBXN4	2	136513157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103817	136513157	106686216	2161	25663											
LCT	3938	broad.mit.edu	37	chr2	136552211	136552211	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgttggtggacttacCtgtctgcatcaaaagaagag	10	11	10	10	0	2	2	1	0	1	2	3	3	3	3	2	2	2	2	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136552211C>A	ENST00000264162.2	-	14	5121	c.5111G>T	c.(5110-5112)aGa>aTa	p.R1704I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1704	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTGGACTTACCTGTCTGCATC	0.532													A	136552211	C	A	136552211	5	1	364	1	0	0	0	0	0	0	1	0	8752	695	24	4	688	4	LCT	2	136552211	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39054	136552211	106647162	2162	25664											
LCT	3938	broad.mit.edu	37	chr2	136555613	136555613	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttaccgagacttgttgagGcctgcagccaagctcctgtc	7	10	10	14	1	0	2	0	1	0	1	2	3	1	2	5	1	4	3	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136555613G>T	ENST00000264162.2	-	13	4972	c.4962C>A	c.(4960-4962)ggC>ggA	p.G1654G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1654	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ACTTGTTGAGGCCTGCAGCCA	0.562											OREG0014998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	136555613	G	T	136555613	2	4	364	1	0	0	0	0	0	0	0	1	8752	1190	42	4		4	LCT	2	136555613	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3402	136555613	106643760	2163	25665											
LCT	3938	broad.mit.edu	37	chr2	136562398	136562398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacgtagtagttcaggcccGcttcattgatgtacctggtg	7	13	11	10	2	3	1	3	1	0	0	3	1	3	1	2	2	1	5	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136562398G>A	ENST00000264162.2	-	10	4413	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1468	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTCAGGCCCGCTTCATTGAT	0.577													A	136562398	G	A	136562398	3	1	364	1	0	0	0	0	1	0	0	0	8752	1087	38	1	1412	1	LCT	2	136562398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6785	136562398	106636975	2164	25666											
LCT	3938	broad.mit.edu	37	chr2	136594306	136594306	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaggtcagcaaaggctTcggttctccggagggtgctg	8	8	16	9	3	2	1	1	0	1	1	4	3	2	2	1	5	2	4	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136594306T>C	ENST00000264162.2	-	1	444	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	145	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGCAAAGGCTTCGGTTCTCCG	0.597													C	136594306	T	C	136594306	3	2	364	1	0	0	0	0	1	0	0	0	8752	1783	62	3	5417	3	LCT	2	136594306	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31908	136594306	106605067	2165	25667											
MCM6	4175	broad.mit.edu	37	chr2	136626210	136626210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcaacaaatcttgatttatTtgtatccagtaagaatctcc	14	15	4	8	0	3	2	1	1	2	1	5	2	4	2	2	0	1	2	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136626210T>C	ENST00000264156.2	-	4	646	c.586A>G	c.(586-588)Aat>Gat	p.N196D		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	196					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	CTTGATTTATTTGTATCCAGT	0.368													C	136626210	T	C	136626210	3	2	364	1	0	0	0	0	1	0	0	0	9466	1841	64	3	1935	3	MCM6	2	136626210	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31904	136626210	106573163	2166	25668											
CXCR4	7852	broad.mit.edu	37	chr2	136872919	136872919	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacacaaccacccacaaGtcattggggtagaagcggtc	13	6	11	11	1	1	1	1	0	0	1	2	2	1	2	2	4	3	1	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:136872919G>A	ENST00000409817.1	-	1	894	c.591C>T	c.(589-591)gaC>gaT	p.D197D	CXCR4_ENST00000241393.3_Silent_p.D193D|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	193	Involved in dimerization.				activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	CCACCCACAAGTCATTGGGGT	0.493													A	136872919	G	A	136872919	2	1	364	1	0	0	0	0	0	0	0	1	4126	1020	36	2		2	CXCR4	2	136872919	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246709	136872919	106326454	2167	25669											
THSD7B	80731	broad.mit.edu	37	chr2	137814073	137814073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttcatgttgacgggtggAcaagtcacctgtctaactgt	8	14	11	8	1	3	1	2	1	1	0	3	2	3	2	1	2	1	2	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814073A>G	ENST00000409968.1	+	3	401	c.223A>G	c.(223-225)Aca>Gca	p.T75A	THSD7B_ENST00000413152.2_Missense_Mutation_p.T44A|THSD7B_ENST00000272643.3_Missense_Mutation_p.T75A					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGACGGGTGGACAAGTCACCT	0.532													G	137814073	A	G	137814073	3	3	364	1	0	0	0	0	1	0	0	0	15980	275	10	3	136	3	THSD7B	2	137814073	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	941154	137814073	105385300	2168	25670											
THSD7B	80731	broad.mit.edu	37	chr2	137814102	137814102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctaactgtggtgagagCaacaggcctccaaaggaaag	13	7	12	9	0	1	1	0	1	1	1	2	3	2	2	2	3	3	1	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:137814102C>T	ENST00000409968.1	+	3	430	c.252C>T	c.(250-252)agC>agT	p.S84S	THSD7B_ENST00000413152.2_Silent_p.S53S|THSD7B_ENST00000272643.3_Silent_p.S84S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTGGTGAGAGCAACAGGCCTC	0.532													T	137814102	C	T	137814102	2	4	364	1	0	0	0	0	0	0	0	1	15980	709	25	2		2	THSD7B	2	137814102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29	137814102	105385271	2169	25671											
THSD7B	80731	broad.mit.edu	37	chr2	138376002	138376002	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaaacgcaccctgtggTcaaggcgtcaggacccgcct	10	6	12	13	3	2	1	2	1	0	0	2	2	2	2	3	3	1	1	3	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138376002T>C	ENST00000409968.1	+	19	3784	c.3606T>C	c.(3604-3606)ggT>ggC	p.G1202G	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.G1174G|THSD7B_ENST00000272643.3_Silent_p.G1205G					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		CACCCTGTGGTCAAGGCGTCA	0.493													C	138376002	T	C	138376002	2	2	364	1	0	0	0	0	0	0	0	1	15980	1654	58	3		3	THSD7B	2	138376002	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	561900	138376002	104823371	2170	25672											
THSD7B	80731	broad.mit.edu	37	chr2	138400110	138400110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaacccaaggagaaggacgGccatgccccacagagcttac	13	3	10	15	1	0	2	0	0	0	2	0	4	0	3	5	3	4	1	5	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:138400110G>A	ENST00000409968.1	+	21	4030	c.3852G>A	c.(3850-3852)cgG>cgA	p.R1284R	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000413152.2_Silent_p.R1256R|THSD7B_ENST00000272643.3_Silent_p.R1287R					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GAGAAGGACGGCCATGCCCCA	0.512													A	138400110	G	A	138400110	2	1	364	1	0	0	0	0	0	0	0	1	15980	1190	42	2		2	THSD7B	2	138400110	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24108	138400110	104799263	2171	25673											
LRP1B	53353	broad.mit.edu	37	chr2	141072507	141072507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaatgaaatatttacctaGaactgatggtacgcaagttc	15	11	8	7	1	0	3	0	2	0	1	1	4	0	3	1	1	3	3	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072507G>A	ENST00000389484.3	-	83	13773	c.12802C>T	c.(12802-12804)Cta>Tta	p.L4268L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4268	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L4268I(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TATTTACCTAGAACTGATGGT	0.353										TSP Lung(27;0.18)			A	141072507	G	A	141072507	2	1	364	1	0	0	0	0	0	0	0	1	9025	933	33	2		2	LRP1B	2	141072507	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2672397	141072507	102126866	2172	25674											
LRP1B	53353	broad.mit.edu	37	chr2	141072547	141072547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccattctggcagtagttGctacagtggttgacttcaca	8	13	9	11	0	2	1	1	1	1	0	3	1	3	1	2	2	2	5	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141072547G>A	ENST00000389484.3	-	83	13733	c.12762C>T	c.(12760-12762)agC>agT	p.S4254S		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4254	EGF-like 11.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGCAGTAGTTGCTACAGTGGT	0.373										TSP Lung(27;0.18)			A	141072547	G	A	141072547	2	1	364	1	0	0	0	0	0	0	0	1	9025	1310	46	2		2	LRP1B	2	141072547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40	141072547	102126826	2173	25675											
LRP1B	53353	broad.mit.edu	37	chr2	141232864	141232864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttccatccattccaacacgGccaatatgaggatactcgca	12	9	7	13	2	0	1	0	1	0	0	4	2	3	2	4	2	2	2	4	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141232864G>A	ENST00000389484.3	-	60	10439	c.9468C>T	c.(9466-9468)ggC>ggT	p.G3156G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3156					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCCAACACGGCCAATATGAG	0.368										TSP Lung(27;0.18)			A	141232864	G	A	141232864	2	1	364	1	0	0	0	0	0	0	0	1	9025	1190	42	2		2	LRP1B	2	141232864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160317	141232864	101966509	2174	25676											
LRP1B	53353	broad.mit.edu	37	chr2	141259299	141259299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagtcttgagaacatccaCtgactttcttactcaaacat	13	12	5	11	0	3	2	1	2	2	1	4	4	4	2	1	0	3	0	1	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141259299C>T	ENST00000389484.3	-	55	9778	c.8807G>A	c.(8806-8808)aGt>aAt	p.S2936N		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2936	EGF-like 6.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AGAACATCCACTGACTTTCTT	0.403										TSP Lung(27;0.18)			T	141259299	C	T	141259299	3	4	364	1	0	0	0	0	1	0	0	0	9025	565	20	2	5140	2	LRP1B	2	141259299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26435	141259299	101940074	2175	25677											
LRP1B	53353	broad.mit.edu	37	chr2	141264418	141264418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcgtcatcatggtcacaaAcaaattgcttgggaatgcat	13	11	9	8	1	3	0	3	0	0	0	4	1	3	1	0	2	3	2	0	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141264418A>G	ENST00000389484.3	-	53	9439	c.8468T>C	c.(8467-8469)gTt>gCt	p.V2823A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2823	LDL-receptor class A 18.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATGGTCACAAACAAATTGCTT	0.393										TSP Lung(27;0.18)			G	141264418	A	G	141264418	3	3	364	1	0	0	0	0	1	0	0	0	9025	43	2	3	5487	3	LRP1B	2	141264418	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5119	141264418	101934955	2176	25678											
LRP1B	53353	broad.mit.edu	37	chr2	141298623	141298623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgggagttaaaaggcacaAgtcatggcagcctccattca	13	9	10	9	0	2	0	2	0	0	0	3	1	3	1	2	3	1	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141298623A>G	ENST00000389484.3	-	45	8403	c.7432T>C	c.(7432-7434)Ttg>Ctg	p.L2478L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2478					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.L2478L(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAAAGGCACAAGTCATGGCAG	0.403										TSP Lung(27;0.18)			G	141298623	A	G	141298623	2	3	364	1	0	0	0	0	0	0	0	1	9025	69	3	3		3	LRP1B	2	141298623	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34205	141298623	101900750	2177	25679											
LRP1B	53353	broad.mit.edu	37	chr2	141460049	141460049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcccatgcttacaaggaCaaccttctctgagccatcca	11	11	5	14	0	1	1	0	1	1	0	4	2	3	2	4	1	4	1	4	1	4	4	rs144546789	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460049C>T	ENST00000389484.3	-	38	7068	c.6097G>A	c.(6097-6099)Gtc>Atc	p.V2033I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2033					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTTACAAGGACAACCTTCTCT	0.428										TSP Lung(27;0.18)			T	141460049	C	T	141460049	3	4	364	1	0	0	0	0	1	0	0	0	9025	478	17	2	7918	2	LRP1B	2	141460049	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161426	141460049	101739324	2178	25680											
LRP1B	53353	broad.mit.edu	37	chr2	141460073	141460073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttctctgagccatccaagcGagcctttccaatacagggca	10	9	8	14	1	1	1	0	1	1	0	4	2	3	1	4	1	4	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141460073G>A	ENST00000389484.3	-	38	7044	c.6073C>T	c.(6073-6075)Cgc>Tgc	p.R2025C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2025					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.R2025S(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATCCAAGCGAGCCTTTCCA	0.408										TSP Lung(27;0.18)			A	141460073	G	A	141460073	3	1	364	1	0	0	0	0	1	0	0	0	9025	1058	37	1	7942	1	LRP1B	2	141460073	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	141460073	101739300	2179	25681											
LRP1B	53353	broad.mit.edu	37	chr2	141641410	141641410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcttgggtccaaagcaatgGccctggggtgttccatggct	7	11	13	10	0	1	0	0	0	1	0	3	0	3	0	3	5	1	3	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141641410G>A	ENST00000389484.3	-	25	5116	c.4145C>T	c.(4144-4146)gCc>gTc	p.A1382V		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1382					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAAAGCAATGGCCCTGGGGTG	0.383										TSP Lung(27;0.18)			A	141641410	G	A	141641410	3	1	364	1	0	0	0	0	1	0	0	0	9025	1203	42	2	9922	2	LRP1B	2	141641410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181337	141641410	101557963	2180	25682											
LRP1B	53353	broad.mit.edu	37	chr2	141665541	141665541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggtgtcattagcacaaGgatgcttgggtggtccacac	9	10	13	9	0	1	1	1	1	0	0	2	2	2	2	1	4	2	2	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141665541G>T	ENST00000389484.3	-	22	4396	c.3425C>A	c.(3424-3426)cCt>cAt	p.P1142H		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1142	LDL-receptor class A 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ATTAGCACAAGGATGCTTGGG	0.463										TSP Lung(27;0.18)			T	141665541	G	T	141665541	3	4	364	1	0	0	0	0	1	0	0	0	9025	1000	35	4	10654	4	LRP1B	2	141665541	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24131	141665541	101533832	2181	25683											
LRP1B	53353	broad.mit.edu	37	chr2	141707849	141707849	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcactgaagtccccacAgtcattgtcaccatcacagg	11	10	6	14	0	5	1	5	1	0	0	6	1	6	1	3	1	0	0	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:141707849A>G	ENST00000389484.3	-	20	4062	c.3091T>C	c.(3091-3093)Tgt>Cgt	p.C1031R		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1031	LDL-receptor class A 7.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AAGTCCCCACAGTCATTGTCA	0.398										TSP Lung(27;0.18)			G	141707849	A	G	141707849	3	3	364	1	0	0	0	0	1	0	0	0	9025	188	7	3	10996	3	LRP1B	2	141707849	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42308	141707849	101491524	2182	25684											
LRP1B	53353	broad.mit.edu	37	chr2	142004838	142004838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctggctgcattaggtaGccttccacacaactgcaagt	9	12	9	11	0	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:142004838G>A	ENST00000389484.3	-	5	1520	c.549C>T	c.(547-549)ggC>ggT	p.G183G		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	183	EGF-like 2; calcium-binding (Potential).				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCATTAGGTAGCCTTCCACAC	0.378										TSP Lung(27;0.18)			A	142004838	G	A	142004838	2	1	364	1	0	0	0	0	0	0	0	1	9025	958	34	2		2	LRP1B	2	142004838	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296989	142004838	101194535	2183	25685											
KYNU	8942	broad.mit.edu	37	chr2	143790850	143790850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattccgaatttcaaatcCtcccattttgttggtctgtt	7	18	7	9	1	2	0	1	0	1	0	5	2	5	1	3	2	0	2	3	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:143790850C>A	ENST00000264170.4	+	12	1259	c.1001C>A	c.(1000-1002)cCt>cAt	p.P334H	KYNU_ENST00000409512.1_Missense_Mutation_p.P334H	NM_003937.2	NP_003928.1	Q16719	KYNU_HUMAN	kynureninase	334					anthranilate metabolic process|NAD biosynthetic process|quinolinate biosynthetic process|response to interferon-gamma|response to vitamin B6	cytosol|mitochondrion|soluble fraction	kynureninase activity|protein homodimerization activity			large_intestine(10)|liver(1)|lung(18)|prostate(3)|skin(4)	36				BRCA - Breast invasive adenocarcinoma(221;0.072)	L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)	ATTTCAAATCCTCCCATTTTG	0.378													A	143790850	C	A	143790850	3	1	364	1	0	0	0	0	1	0	0	0	8646	681	24	4	1069	4	KYNU	2	143790850	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1786012	143790850	99408523	2184	25686											
ARHGAP15	55843	broad.mit.edu	37	chr2	144193179	144193179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttgcagatcacaacaGtatcaggaaatgagttcctt	12	15	7	7	0	2	2	2	1	0	1	3	3	3	3	1	1	2	3	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144193179G>A	ENST00000295095.6	+	7	651	c.484G>A	c.(484-486)Gta>Ata	p.V162I	AC096558.1_ENST00000442794.1_RNA|RP11-570L15.2_ENST00000546678.1_RNA|AC096558.1_ENST00000550516.1_RNA|AC096558.1_ENST00000549032.1_RNA	NM_018460.3	NP_060930.3	Q53QZ3	RHG15_HUMAN	Rho GTPase activating protein 15	162	PH.				regulation of cell shape|small GTPase mediated signal transduction	cytosol|membrane	protein binding|Rac GTPase activator activity	p.V162L(1)		endometrium(1)|kidney(5)|large_intestine(8)|liver(2)|lung(15)|ovary(1)|skin(2)	34				BRCA - Breast invasive adenocarcinoma(221;0.151)		GATCACAACAGTATCAGGAAA	0.299													A	144193179	G	A	144193179	3	1	364	1	0	0	0	0	1	0	0	0	869	1029	36	2	506	2	ARHGAP15	2	144193179	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	402329	144193179	99006194	2185	25687											
GTDC1	79712	broad.mit.edu	37	chr2	144764824	144764824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtcacagggatcaacaGtcagattttgtttattttca	13	15	7	6	0	4	1	4	0	0	1	4	2	4	2	0	1	1	1	0	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:144764824G>T	ENST00000392869.2	-	6	952	c.800C>A	c.(799-801)aCt>aAt	p.T267N	GTDC1_ENST00000463875.2_Missense_Mutation_p.T138N|GTDC1_ENST00000409214.1_Missense_Mutation_p.T267N|GTDC1_ENST00000241391.5_Missense_Mutation_p.T267N|GTDC1_ENST00000344850.4_Missense_Mutation_p.T267N|GTDC1_ENST00000392867.3_Missense_Mutation_p.T267N|GTDC1_ENST00000409298.1_Intron|GTDC1_ENST00000542155.1_Missense_Mutation_p.T267N	NM_001284234.1	NP_001271163.1	Q4AE62	GTDC1_HUMAN	glycosyltransferase-like domain containing 1						biosynthetic process		transferase activity, transferring glycosyl groups			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(17)|ovary(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.0914)		GGGATCAACAGTCAGATTTTG	0.398													T	144764824	G	T	144764824	3	4	364	1	0	0	0	0	1	0	0	0	6906	1029	36	4	600	4	GTDC1	2	144764824	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	571645	144764824	98434549	2186	25688											
ZEB2	9839	broad.mit.edu	37	chr2	145147065	145147065	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcgtggtctgatttggtttCcattttcccatcctccgaac	5	16	7	13	2	1	1	0	1	1	0	6	2	5	1	4	2	1	1	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147065C>A	ENST00000558170.2	-	10	4782	c.3598G>T	c.(3598-3600)Gaa>Taa	p.E1200*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.E1176*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.E1200*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.E1200*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1200	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GATTTGGTTTCCATTTTCCCA	0.388													A	145147065	C	A	145147065	4	1	364	1	0	0	0	0	0	1	0	0	17725	864	30	4	50	4	ZEB2	2	145147065	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382241	145147065	98052308	2187	25689											
ZEB2	9839	broad.mit.edu	37	chr2	145147242	145147242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatcctcgccttctttctCgtgctccttctcgctctcgc	1	15	6	19	4	4	0	0	0	4	0	10	0	6	0	4	0	1	2	4	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145147242C>T	ENST00000558170.2	-	10	4605	c.3421G>A	c.(3421-3423)Gag>Aag	p.E1141K	ZEB2_ENST00000539609.3_Missense_Mutation_p.E1117K|ZEB2_ENST00000409487.3_Missense_Mutation_p.E1141K|ZEB2_ENST00000303660.4_Missense_Mutation_p.E1141K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1141	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCTTCTTTCTCGTGCTCCTTC	0.547													T	145147242	C	T	145147242	3	4	364	1	0	0	0	0	1	0	0	0	17725	893	31	1	227	1	ZEB2	2	145147242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	145147242	98052131	2188	25690											
ZEB2	9839	broad.mit.edu	37	chr2	145156357	145156357	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctgtttggagtgtatgaActactgtgggagtttttaga	10	15	13	3	0	0	2	0	1	0	1	0	4	0	4	0	2	3	4	0	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145156357A>G	ENST00000558170.2	-	8	3581	c.2397T>C	c.(2395-2397)agT>agC	p.S799S	ZEB2_ENST00000539609.3_Silent_p.S775S|ZEB2_ENST00000409487.3_Silent_p.S799S|ZEB2_ENST00000303660.4_Silent_p.S799S	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	799						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GAGTGTATGAACTACTGTGGG	0.393													G	145156357	A	G	145156357	2	3	364	1	0	0	0	0	0	0	0	1	17725	40	2	3		3	ZEB2	2	145156357	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9115	145156357	98043016	2189	25691											
ZEB2	9839	broad.mit.edu	37	chr2	145158778	145158778	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactcaccactgtgaattcGcaggtgttctttcagatggt	8	14	9	10	1	3	2	2	1	1	1	4	2	3	2	1	2	1	2	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:145158778G>A	ENST00000558170.2	-	7	2088	c.904C>T	c.(904-906)Cga>Tga	p.R302*	ZEB2_ENST00000539609.3_Nonsense_Mutation_p.R278*|ZEB2_ENST00000409487.3_Nonsense_Mutation_p.R302*|ZEB2_ENST00000303660.4_Nonsense_Mutation_p.R302*	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	302						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTGTGAATTCGCAGGTGTTCT	0.408													A	145158778	G	A	145158778	4	1	364	1	0	0	0	0	0	1	0	0	17725	1095	38	1	2756	1	ZEB2	2	145158778	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2421	145158778	98040595	2190	25692											
MBD5	55777	broad.mit.edu	37	chr2	149227755	149227755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccagtatgaactctagtgTtcttcagaacatacctttaa	12	14	5	10	0	3	2	1	1	2	1	4	2	4	2	2	0	3	2	2	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149227755T>C	ENST00000407073.1	+	9	3240	c.2243T>C	c.(2242-2244)gTt>gCt	p.V748A	MBD5_ENST00000404807.1_Missense_Mutation_p.V748A	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	748						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AACTCTAGTGTTCTTCAGAAC	0.473													C	149227755	T	C	149227755	3	2	364	1	0	0	0	0	1	0	0	0	9422	1725	60	3	2257	3	MBD5	2	149227755	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4068977	149227755	93971618	2191	25693											
MBD5	55777	broad.mit.edu	37	chr2	149240918	149240918	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaccccagcctcctcAgttctctacctatctctttg	6	14	4	17	0	3	1	1	1	2	0	6	1	4	1	6	0	3	1	6	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149240918A>G	ENST00000407073.1	+	10	3755	c.2758A>G	c.(2758-2760)Agt>Ggt	p.S920G	MBD5_ENST00000404807.1_Missense_Mutation_p.S920G	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	920						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CAGCCTCCTCAGTTCTCTACC	0.463													G	149240918	A	G	149240918	3	3	364	1	0	0	0	0	1	0	0	0	9422	188	7	3	2776	3	MBD5	2	149240918	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13163	149240918	93958455	2192	25694											
EPC2	26122	broad.mit.edu	37	chr2	149522544	149522544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccctcatcatttgtctttGaaagaagaggcttctgatgt	10	14	8	9	0	4	4	2	2	2	2	4	4	4	4	1	1	0	1	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149522544G>A	ENST00000258484.6	+	7	1003	c.969G>A	c.(967-969)ttG>ttA	p.L323L		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	323					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		ATTTGTCTTTGAAAGAAGAGG	0.383													A	149522544	G	A	149522544	2	1	364	1	0	0	0	0	0	0	0	1	5202	1281	45	2		2	EPC2	2	149522544	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281626	149522544	93676829	2193	25695											
EPC2	26122	broad.mit.edu	37	chr2	149543884	149543884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attaccatagagagaaccacGaaccagaaagattgggctta	17	7	9	8	1	0	4	0	0	0	4	0	6	0	4	3	1	3	1	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:149543884G>A	ENST00000258484.6	+	14	2396	c.2362G>A	c.(2362-2364)Gaa>Aaa	p.E788K		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	788					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		AGAGAACCACGAACCAGAAAG	0.373													A	149543884	G	A	149543884	3	1	364	1	0	0	0	0	1	0	0	0	5202	1059	37	1	2416	1	EPC2	2	149543884	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21340	149543884	93655489	2194	25696											
RIF1	55183	broad.mit.edu	37	chr2	152292042	152292042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacctcagggcaattcGtgtcatgtagctacatctcc	8	11	8	14	1	4	0	3	0	1	0	6	0	4	0	3	1	2	3	3	1	3	3	rs149346205		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152292042G>A	ENST00000243326.5	+	10	1626	c.1143G>A	c.(1141-1143)tcG>tcA	p.S381S	RIF1_ENST00000430328.2_Silent_p.S381S|RIF1_ENST00000433166.2_Intron|RIF1_ENST00000428287.2_Silent_p.S381S|RIF1_ENST00000453091.2_Silent_p.S381S|RIF1_ENST00000444746.2_Silent_p.S381S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGGGCAATTCGTGTCATGTAG	0.368													A	152292042	G	A	152292042	2	1	364	1	0	0	0	0	0	0	0	1	13448	1132	40	1		1	RIF1	2	152292042	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2748158	152292042	90907331	2195	25697											
RIF1	55183	broad.mit.edu	37	chr2	152293769	152293769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcagagccattggaacatCcgttaatcagcagcccttcc	10	11	7	13	1	2	1	2	0	0	1	4	2	4	2	4	1	4	2	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293769C>T	ENST00000243326.5	+	12	1870	c.1387C>T	c.(1387-1389)Ccg>Tcg	p.P463S	RIF1_ENST00000430328.2_Missense_Mutation_p.P463S|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.P463S|RIF1_ENST00000453091.2_Missense_Mutation_p.P463S|RIF1_ENST00000444746.2_Missense_Mutation_p.P463S			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		ATTGGAACATCCGTTAATCAG	0.338													T	152293769	C	T	152293769	3	4	364	1	0	0	0	0	1	0	0	0	13448	855	30	2	1433	2	RIF1	2	152293769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1727	152293769	90905604	2196	25698											
RIF1	55183	broad.mit.edu	37	chr2	152293842	152293842	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttcatgatagctttgTtgcagttggaaaagatgccc	9	14	11	7	0	1	2	1	1	0	1	1	3	1	3	1	1	4	6	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152293842T>C	ENST00000243326.5	+	12	1943	c.1460T>C	c.(1459-1461)gTt>gCt	p.V487A	RIF1_ENST00000430328.2_Missense_Mutation_p.V487A|RIF1_ENST00000433166.2_3'UTR|RIF1_ENST00000428287.2_Missense_Mutation_p.V487A|RIF1_ENST00000453091.2_Missense_Mutation_p.V487A|RIF1_ENST00000444746.2_Missense_Mutation_p.V487A			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		GATAGCTTTGTTGCAGTTGGA	0.388													C	152293842	T	C	152293842	3	2	364	1	0	0	0	0	1	0	0	0	13448	1725	60	3	1506	3	RIF1	2	152293842	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73	152293842	90905531	2197	25699											
NEB	4703	broad.mit.edu	37	chr2	152410491	152410491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctaccatgtcgggcaCgatgtggattttcatcttgt	7	15	9	10	2	3	0	1	0	2	0	5	2	3	1	1	2	1	1	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152410491C>T	ENST00000427231.2	-	126	19679	c.19477G>A	c.(19477-19479)Gtg>Atg	p.V6493M	NEB_ENST00000604864.1_Missense_Mutation_p.V6493M|NEB_ENST00000397345.3_Missense_Mutation_p.V6493M|NEB_ENST00000409198.1_Missense_Mutation_p.V4792M|NEB_ENST00000172853.10_Missense_Mutation_p.V4792M|NEB_ENST00000603639.1_Missense_Mutation_p.V6493M	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	4792	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATGTCGGGCACGATGTGGATT	0.458													T	152410491	C	T	152410491	3	4	364	1	0	0	0	0	1	0	0	0	10378	536	19	1	6437	1	NEB	2	152410491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116649	152410491	90788882	2198	25700											
NEB	4703	broad.mit.edu	37	chr2	152422294	152422294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaatccagtgggatccagCcaatgcctcggagccactcc	10	6	10	15	1	0	1	0	0	0	1	4	3	3	3	6	2	3	0	6	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152422294C>T	ENST00000427231.2	-	115	18399	c.18197G>A	c.(18196-18198)gGc>gAc	p.G6066D	NEB_ENST00000604864.1_Missense_Mutation_p.G6066D|NEB_ENST00000397345.3_Missense_Mutation_p.G6066D|NEB_ENST00000409198.1_Missense_Mutation_p.G4365D|NEB_ENST00000172853.10_Missense_Mutation_p.G4365D|NEB_ENST00000603639.1_Missense_Mutation_p.G6066D	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6060					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGGATCCAGCCAATGCCTCG	0.478													T	152422294	C	T	152422294	3	4	364	1	0	0	0	0	1	0	0	0	10378	739	26	2	7761	2	NEB	2	152422294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11803	152422294	90777079	2199	25701											
NEB	4703	broad.mit.edu	37	chr2	152423688	152423688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatcacttacatcactCtgtaggtcataggcctttct	12	13	5	11	0	5	0	3	0	2	0	5	0	5	0	1	2	1	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152423688C>A	ENST00000427231.2	-	114	18352	c.18150G>T	c.(18148-18150)caG>caT	p.Q6050H	NEB_ENST00000604864.1_Missense_Mutation_p.Q6050H|NEB_ENST00000397345.3_Missense_Mutation_p.Q6050H|NEB_ENST00000409198.1_Missense_Mutation_p.Q4349H|NEB_ENST00000172853.10_Missense_Mutation_p.Q4349H|NEB_ENST00000603639.1_Missense_Mutation_p.Q6050H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6044					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	p.Q4349Q(1)|p.Q6050Q(1)		NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTACATCACTCTGTAGGTCAT	0.398													A	152423688	C	A	152423688	3	1	364	1	0	0	0	0	1	0	0	0	10378	912	32	4	7812	4	NEB	2	152423688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1394	152423688	90775685	2200	25702											
NEB	4703	broad.mit.edu	37	chr2	152476093	152476093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacacttcttggccaaaaCgataccaagcatgtccactg	12	9	7	13	1	1	1	0	1	1	0	2	2	2	1	3	1	3	1	3	1	4	3	rs139798654	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152476093C>T	ENST00000427231.2	-	73	10946	c.10744G>A	c.(10744-10746)Gtt>Att	p.V3582I	NEB_ENST00000604864.1_Missense_Mutation_p.V3582I|NEB_ENST00000397345.3_Missense_Mutation_p.V3582I|NEB_ENST00000409198.1_Missense_Mutation_p.V3339I|NEB_ENST00000172853.10_Missense_Mutation_p.V3339I|NEB_ENST00000603639.1_Missense_Mutation_p.V3582I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	3582					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTGGCCAAAACGATACCAAGC	0.478													T	152476093	C	T	152476093	3	4	364	1	0	0	0	0	1	0	0	0	10378	536	19	1	15382	1	NEB	2	152476093	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52405	152476093	90723280	2201	25703											
NEB	4703	broad.mit.edu	37	chr2	152497084	152497084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgtcactctggatcttggCcacgtgcatggaccacatca	8	10	9	14	1	4	0	2	0	2	0	4	2	4	2	3	3	1	1	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152497084C>T	ENST00000427231.2	-	61	8672	c.8470G>A	c.(8470-8472)Gcc>Acc	p.A2824T	NEB_ENST00000604864.1_Missense_Mutation_p.A2824T|NEB_ENST00000397345.3_Missense_Mutation_p.A2824T|NEB_ENST00000409198.1_Missense_Mutation_p.A2824T|NEB_ENST00000172853.10_Missense_Mutation_p.A2824T|NEB_ENST00000603639.1_Missense_Mutation_p.A2824T	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2824					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGATCTTGGCCACGTGCATG	0.527													T	152497084	C	T	152497084	3	4	364	1	0	0	0	0	1	0	0	0	10378	739	26	2	17704	2	NEB	2	152497084	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20991	152497084	90702289	2202	25704											
NEB	4703	broad.mit.edu	37	chr2	152506778	152506778	+	Missense_Mutation	SNP	C	C	T																															tgtttctgtctggaggctgaCgatatttcttctcactgatg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506778C>T	ENST00000427231.2	-	54	7545	c.7343G>A	c.(7342-7344)cGt>cAt	p.R2448H	NEB_ENST00000604864.1_Missense_Mutation_p.R2448H|NEB_ENST00000397345.3_Missense_Mutation_p.R2448H|NEB_ENST00000409198.1_Missense_Mutation_p.R2448H|NEB_ENST00000172853.10_Missense_Mutation_p.R2448H|NEB_ENST00000603639.1_Missense_Mutation_p.R2448H	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2448					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TGGAGGCTGACGATATTTCTT	0.463													T	152506778	C	T	152506778	3	4	364	1	0	0	0	0	1	0	0	0	10378	536	19	1	18859	1	NEB	2	152506778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9694	152506778	90692595	2203	25705	48	2									
NEB	4703	broad.mit.edu	37	chr2	152506786	152506786	+	Missense_Mutation	SNP	C	C	A																															tctggaggctgacgatatttCttctcactgatgatttccga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152506786C>A	ENST00000427231.2	-	54	7537	c.7335G>T	c.(7333-7335)aaG>aaT	p.K2445N	NEB_ENST00000604864.1_Missense_Mutation_p.K2445N|NEB_ENST00000397345.3_Missense_Mutation_p.K2445N|NEB_ENST00000409198.1_Missense_Mutation_p.K2445N|NEB_ENST00000172853.10_Missense_Mutation_p.K2445N|NEB_ENST00000603639.1_Missense_Mutation_p.K2445N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2445					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GACGATATTTCTTCTCACTGA	0.448													A	152506786	C	A	152506786	3	1	364	1	0	0	0	0	1	0	0	0	10378	912	32	4	18867	4	NEB	2	152506786	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	152506786	90692587	2204	25706	48	2									
NEB	4703	broad.mit.edu	37	chr2	152507377	152507377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catggtggccaagttgctttCggtagccttgtttgtattta	6	17	11	7	1	0	0	0	0	0	0	1	0	0	0	2	3	2	5	2	3	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152507377C>T	ENST00000427231.2	-	53	7140	c.6938G>A	c.(6937-6939)cGa>cAa	p.R2313Q	NEB_ENST00000604864.1_Missense_Mutation_p.R2313Q|NEB_ENST00000397345.3_Missense_Mutation_p.R2313Q|NEB_ENST00000409198.1_Missense_Mutation_p.R2313Q|NEB_ENST00000172853.10_Missense_Mutation_p.R2313Q|NEB_ENST00000603639.1_Missense_Mutation_p.R2313Q	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	2313					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		AAGTTGCTTTCGGTAGCCTTG	0.393													T	152507377	C	T	152507377	3	4	364	1	0	0	0	0	1	0	0	0	10378	884	31	1	19268	1	NEB	2	152507377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	591	152507377	90691996	2205	25707											
NEB	4703	broad.mit.edu	37	chr2	152534196	152534196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcattcagagcatcaccGgcctttttaactttttcgac	8	17	5	11	2	3	1	3	0	0	1	4	2	3	1	2	1	2	1	2	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152534196G>A	ENST00000427231.2	-	34	3859	c.3657C>T	c.(3655-3657)gcC>gcT	p.A1219A	NEB_ENST00000604864.1_Silent_p.A1219A|NEB_ENST00000397345.3_Silent_p.A1219A|NEB_ENST00000409198.1_Silent_p.A1219A|NEB_ENST00000172853.10_Silent_p.A1219A|NEB_ENST00000603639.1_Silent_p.A1219A	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	1219					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GAGCATCACCGGCCTTTTTAA	0.453													A	152534196	G	A	152534196	2	1	364	1	0	0	0	0	0	0	0	1	10378	1103	39	1		1	NEB	2	152534196	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26819	152534196	90665177	2206	25708											
NEB	4703	broad.mit.edu	37	chr2	152581430	152581430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctttgctttttcatctaCgtgacatatagtcttagcaa	10	17	5	9	1	3	1	1	1	2	0	4	1	4	1	1	0	3	2	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152581430C>T	ENST00000427231.2	-	7	650	c.448G>A	c.(448-450)Gta>Ata	p.V150I	NEB_ENST00000604864.1_Missense_Mutation_p.V150I|NEB_ENST00000397345.3_Missense_Mutation_p.V150I|NEB_ENST00000409198.1_Missense_Mutation_p.V150I|NEB_ENST00000172853.10_Missense_Mutation_p.V150I|NEB_ENST00000603639.1_Missense_Mutation_p.V150I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	150					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTTTCATCTACGTGACATATA	0.408													T	152581430	C	T	152581430	3	4	364	1	0	0	0	0	1	0	0	0	10378	536	19	1	25942	1	NEB	2	152581430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47234	152581430	90617943	2207	25709											
CACNB4	785	broad.mit.edu	37	chr2	152729007	152729007	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaagaatttccacttgatttCctaggatatagaaaaggaac	16	11	8	6	0	0	3	0	1	0	2	2	6	2	5	2	2	1	0	2	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152729007C>T	ENST00000360283.6	-	5	677	c.420G>A	c.(418-420)ggG>ggA	p.G140G	CACNB4_ENST00000427385.1_Splice_Site_p.G156G|CACNB4_ENST00000397327.2_Splice_Site_p.G127G|CACNB4_ENST00000539935.1_Splice_Site_p.G174G|CACNB4_ENST00000534999.1_Splice_Site_p.G140G|CACNB4_ENST00000201943.5_Splice_Site_p.G174G			O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	174	SH3.				axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CACTTGATTTCCTAGGATATA	0.383													T	152729007	C	T	152729007	5	4	364	1	0	0	0	0	0	0	1	0	2581	869	30	2	1076	2	CACNB4	2	152729007	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147577	152729007	90470366	2208	25710											
STAM2	10254	broad.mit.edu	37	chr2	152977162	152977162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaactgtcaccggaaagcCtgccagttgaggcaaattgg	11	8	13	9	1	1	1	1	1	0	0	1	3	1	3	3	4	3	2	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152977162C>A	ENST00000263904.4	-	14	1853	c.1504G>T	c.(1504-1506)Ggc>Tgc	p.G502C		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	502					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		ACCGGAAAGCCTGCCAGTTGA	0.448													A	152977162	C	A	152977162	3	1	364	1	0	0	0	0	1	0	0	0	15345	681	24	4	77	4	STAM2	2	152977162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248155	152977162	90222211	2209	25711											
STAM2	10254	broad.mit.edu	37	chr2	152988660	152988660	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtttttcatctatcatTggacccatctgttggcagat	9	16	7	9	0	5	1	3	0	2	1	5	2	5	2	1	2	0	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:152988660T>C	ENST00000263904.4	-	11	1342	c.993A>G	c.(991-993)ccA>ccG	p.P331P		NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	331					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CATCTATCATTGGACCCATCT	0.313													C	152988660	T	C	152988660	2	2	364	1	0	0	0	0	0	0	0	1	15345	1799	63	3		3	STAM2	2	152988660	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11498	152988660	90210713	2210	25712											
STAM2	10254	broad.mit.edu	37	chr2	153000472	153000472	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatttctgaagatggataTaaggattttgtttctgtgtg	10	18	11	2	0	2	3	0	2	2	1	2	5	2	5	0	2	0	1	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153000472T>C	ENST00000263904.4	-	7	922	c.573A>G	c.(571-573)ttA>ttG	p.L191L	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	191					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		AAGATGGATATAAGGATTTTG	0.318													C	153000472	T	C	153000472	2	2	364	1	0	0	0	0	0	0	0	1	15345	1403	49	3		3	STAM2	2	153000472	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11812	153000472	90198901	2211	25713											
ARL6IP6	151188	broad.mit.edu	37	chr2	153591515	153591515	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttcctgttaaggattctgGactctacttataatatccct	9	18	5	9	0	2	0	0	0	2	0	4	2	4	2	2	2	1	1	2	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:153591515G>A	ENST00000326446.5	+	3	1173	c.462G>A	c.(460-462)tgG>tgA	p.W154*	ARL6IP6_ENST00000463690.1_3'UTR	NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	154						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						AAGGATTCTGGACTCTACTTA	0.353													A	153591515	G	A	153591515	4	1	364	1	0	0	0	0	0	1	0	0	950	1183	41	2	472	2	ARL6IP6	2	153591515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591043	153591515	89607858	2212	25714											
GALNT13	114805	broad.mit.edu	37	chr2	155098658	155098658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtgtgataaatcgttccCcacactatctactctcagag	12	11	6	12	1	2	2	1	1	2	1	5	2	3	2	2	0	1	1	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155098658C>T	ENST00000392825.3	+	5	994	c.427C>T	c.(427-429)Cca>Tca	p.P143S	GALNT13_ENST00000409237.1_Missense_Mutation_p.P143S	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	143	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						AAATCGTTCCCCACACTATCT	0.373													T	155098658	C	T	155098658	3	4	364	1	0	0	0	0	1	0	0	0	6265	623	22	2	437	2	GALNT13	2	155098658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1507143	155098658	88100715	2213	25715											
GALNT13	114805	broad.mit.edu	37	chr2	155307045	155307045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagtggctgctaaggaaCatgaccttgggcacatgaag	13	7	12	9	0	0	2	0	2	0	0	0	3	0	3	1	3	3	3	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155307045C>T	ENST00000392825.3	+	13	2220	c.1653C>T	c.(1651-1653)aaC>aaT	p.N551N	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	551						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						TGCTAAGGAACATGACCTTGG	0.428													T	155307045	C	T	155307045	2	4	364	1	0	0	0	0	0	0	0	1	6265	477	17	2		2	GALNT13	2	155307045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208387	155307045	87892328	2214	25716											
KCNJ3	3760	broad.mit.edu	37	chr2	155711428	155711428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcttctcatgtcgtcccCtttaatagcaccagccataa	11	12	5	13	1	1	0	1	0	1	0	4	0	2	0	4	0	3	2	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:155711428C>A	ENST00000295101.2	+	3	1586	c.1109C>A	c.(1108-1110)cCt>cAt	p.P370H	KCNJ3_ENST00000493505.1_3'UTR|KCNJ3_ENST00000544049.1_3'UTR	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	370					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	ATGTCGTCCCCTTTAATAGCA	0.408													A	155711428	C	A	155711428	3	1	364	1	0	0	0	0	1	0	0	0	8110	681	24	4	1119	4	KCNJ3	2	155711428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404383	155711428	87487945	2215	25717											
NR4A2	4929	broad.mit.edu	37	chr2	157184975	157184975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtactgacagcgattcCggcgacgcttgtccactggg	7	8	14	12	4	0	1	0	1	0	0	2	3	2	1	2	3	2	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:157184975C>T	ENST00000339562.4	-	4	1297	c.935G>A	c.(934-936)cGg>cAg	p.R312Q	NR4A2_ENST00000429376.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000426264.1_Missense_Mutation_p.R249Q|NR4A2_ENST00000409572.1_Missense_Mutation_p.R312Q|NR4A2_ENST00000539077.1_Missense_Mutation_p.R323Q|NR4A2_ENST00000409108.2_Missense_Mutation_p.R312Q	NM_006186.3	NP_006177.1	P43354	NR4A2_HUMAN	nuclear receptor subfamily 4, group A, member 2	312					cellular response to extracellular stimulus|dopaminergic neuron differentiation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus	nucleoplasm	sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding	p.R312Q(1)		breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(15)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	40						ACAGCGATTCCGGCGACGCTT	0.493													T	157184975	C	T	157184975	3	4	364	1	0	0	0	0	1	0	0	0	10709	652	23	1	881	1	NR4A2	2	157184975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1473547	157184975	86014398	2216	25718											
GALNT5	11227	broad.mit.edu	37	chr2	158114767	158114767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagcggataggattcaGagttcagccagaccaaggaa	14	5	15	7	1	2	2	2	0	0	2	2	7	2	6	2	4	2	1	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158114767G>T	ENST00000259056.4	+	1	658	c.173G>T	c.(172-174)aGa>aTa	p.R58I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	58					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						ATAGGATTCAGAGTTCAGCCA	0.488													T	158114767	G	T	158114767	3	4	364	1	0	0	0	0	1	0	0	0	6270	942	33	4	175	4	GALNT5	2	158114767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	929792	158114767	85084606	2217	25719											
ERMN	57471	broad.mit.edu	37	chr2	158178124	158178124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcatcatgtttagaatGtaacatgtcagcttggctag	10	14	8	9	0	3	1	3	0	0	1	4	1	4	1	1	1	2	4	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158178124G>A	ENST00000410096.1	-	3	805	c.514C>T	c.(514-516)Cat>Tat	p.H172Y	ERMN_ENST00000420719.2_Missense_Mutation_p.H152Y|ERMN_ENST00000535935.1_Missense_Mutation_p.H66Y|ERMN_ENST00000397283.2_Missense_Mutation_p.H185Y	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	172						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TGTTTAGAATGTAACATGTCA	0.398													A	158178124	G	A	158178124	3	1	364	1	0	0	0	0	1	0	0	0	5276	1377	48	2	344	2	ERMN	2	158178124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63357	158178124	85021249	2218	25720											
ACVR1C	130399	broad.mit.edu	37	chr2	158395160	158395160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctttctcatttcctctatCgagggatctgaaggcaccat	9	13	7	12	1	3	1	1	1	3	0	6	3	4	2	3	2	0	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158395160C>T	ENST00000243349.8	-	8	1641	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	ACVR1C_ENST00000335450.7_Silent_p.S347S|ACVR1C_ENST00000348328.5_Silent_p.S270S|ACVR1C_ENST00000409680.3_Silent_p.S377S	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity	p.S427S(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TTTCCTCTATCGAGGGATCTG	0.363													T	158395160	C	T	158395160	2	4	364	1	0	0	0	0	0	0	0	1	222	871	31	1		1	ACVR1C	2	158395160	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217036	158395160	84804213	2219	25721											
ACVR1	90	broad.mit.edu	37	chr2	158594104	158594104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcaaagtctttttgataCgcagtgctgtgagtcttgcg	7	15	12	7	2	3	2	1	2	2	0	3	2	3	2	0	1	3	2	0	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158594104C>T	ENST00000263640.3	-	11	1898	c.1469G>A	c.(1468-1470)cGt>cAt	p.R490H	ACVR1_ENST00000434821.1_Missense_Mutation_p.R490H|ACVR1_ENST00000409283.2_Missense_Mutation_p.R490H|ACVR1_ENST00000410057.2_Missense_Mutation_p.R490H	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	490	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CTTTTTGATACGCAGTGCTGT	0.393													T	158594104	C	T	158594104	3	4	364	1	0	0	0	0	1	0	0	0	220	536	19	1	64	1	ACVR1	2	158594104	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198944	158594104	84605269	2220	25722											
ACVR1	90	broad.mit.edu	37	chr2	158622483	158622483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaaccagaatatttttgCtctttaaatctcgatgggca	11	16	6	8	1	3	1	0	0	3	1	4	2	3	1	1	1	2	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158622483C>A	ENST00000263640.3	-	8	1445	c.1016G>T	c.(1015-1017)aGc>aTc	p.S339I	ACVR1_ENST00000434821.1_Missense_Mutation_p.S339I|ACVR1_ENST00000409283.2_Missense_Mutation_p.S339I|ACVR1_ENST00000410057.2_Missense_Mutation_p.S339I	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	339	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	AATATTTTTGCTCTTTAAATC	0.368													A	158622483	C	A	158622483	3	1	364	1	0	0	0	0	1	0	0	0	220	797	28	4	529	4	ACVR1	2	158622483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28379	158622483	84576890	2221	25723											
ACVR1	90	broad.mit.edu	37	chr2	158630609	158630609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaagaattaccgacacactCcaacagtgtaatctggcgag	16	7	8	10	2	1	1	0	0	1	1	2	3	2	1	2	1	2	1	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158630609C>T	ENST00000263640.3	-	6	1063	c.634G>A	c.(634-636)Gag>Aag	p.E212K	ACVR1_ENST00000434821.1_Missense_Mutation_p.E212K|ACVR1_ENST00000409283.2_Missense_Mutation_p.E212K|ACVR1_ENST00000410057.2_Missense_Mutation_p.E212K	NM_001105.4	NP_001096.1	Q04771	ACVR1_HUMAN	activin A receptor, type I	212	Protein kinase.				BMP signaling pathway|G1/S transition of mitotic cell cycle|negative regulation of activin receptor signaling pathway|negative regulation of apoptosis|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	activin receptor complex	activin binding|ATP binding|follistatin binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	19				BRCA - Breast invasive adenocarcinoma(221;0.104)	Adenosine triphosphate(DB00171)	CCGACACACTCCAACAGTGTA	0.378													T	158630609	C	T	158630609	3	4	364	1	0	0	0	0	1	0	0	0	220	864	30	2	919	2	ACVR1	2	158630609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8126	158630609	84568764	2222	25724											
UPP2	151531	broad.mit.edu	37	chr2	158971709	158971709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaagaagacataaaaGacatctgtgctgggacagac	17	6	11	7	0	1	5	0	1	1	4	1	6	1	6	0	1	2	2	0	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158971709G>T	ENST00000605860.1	+	6	494	c.448G>T	c.(448-450)Gac>Tac	p.D150Y	UPP2_ENST00000460456.1_Intron|UPP2_ENST00000005756.4_Missense_Mutation_p.D93Y|UPP2_ENST00000409859.4_Missense_Mutation_p.D150Y			O95045	UPP2_HUMAN	uridine phosphorylase 2	93					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						AGACATAAAAGACATCTGTGC	0.473													T	158971709	G	T	158971709	3	4	364	1	0	0	0	0	1	0	0	0	17115	942	33	4	466	4	UPP2	2	158971709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	341100	158971709	84227664	2223	25725											
UPP2	151531	broad.mit.edu	37	chr2	158991263	158991263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaattgctcttctagctgCtgtggtctgtgtgacacttc	5	16	10	10	0	3	1	0	1	3	0	4	1	3	1	0	1	3	4	0	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:158991263C>T	ENST00000605860.1	+	10	1032	c.986C>T	c.(985-987)gCt>gTt	p.A329V	UPP2_ENST00000460456.1_3'UTR|UPP2_ENST00000005756.4_Missense_Mutation_p.A272V|UPP2_ENST00000409859.4_Missense_Mutation_p.A329V			O95045	UPP2_HUMAN	uridine phosphorylase 2	272					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|uridine metabolic process	cytosol|type III intermediate filament	uridine phosphorylase activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31						CTTCTAGCTGCTGTGGTCTGT	0.468													T	158991263	C	T	158991263	3	4	364	1	0	0	0	0	1	0	0	0	17115	797	28	2	1020	2	UPP2	2	158991263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19554	158991263	84208110	2224	25726											
CCDC148	130940	broad.mit.edu	37	chr2	159195527	159195527	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactccagtctgaaagatcaTtttctattctctgttgctcc	8	17	5	11	0	4	2	1	1	3	1	7	2	6	2	2	0	2	2	2	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159195527T>G	ENST00000283233.5	-	6	870	c.557A>C	c.(556-558)aAt>aCt	p.N186T	CCDC148_ENST00000409187.1_Missense_Mutation_p.N195T|CCDC148_ENST00000409889.1_Missense_Mutation_p.N186T|CCDC148_ENST00000536771.1_Missense_Mutation_p.N100T	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	186										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TGAAAGATCATTTTCTATTCT	0.313													G	159195527	T	G	159195527	3	3	364	1	0	0	0	0	1	0	0	0	2808	1493	52	5	1306	5	CCDC148	2	159195527	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	204264	159195527	84003846	2225	25727											
PKP4	8502	broad.mit.edu	37	chr2	159536950	159536950	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcaacagcatcaacagCtgtattatagtcaagatgac	14	12	7	8	0	3	2	3	1	0	1	3	2	3	2	0	0	4	3	0	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:159536950C>A	ENST00000389757.3	+	21	3336	c.3211C>A	c.(3211-3213)Ctg>Atg	p.L1071M	PKP4_ENST00000389759.3_Missense_Mutation_p.L1114M|AC005042.4_ENST00000442666.1_RNA|AC005042.4_ENST00000342892.4_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1114					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GCATCAACAGCTGTATTATAG	0.328										HNSCC(62;0.18)			A	159536950	C	A	159536950	3	1	364	1	0	0	0	0	1	0	0	0	12064	796	28	4	3422	4	PKP4	2	159536950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341423	159536950	83662423	2226	25728											
TANC1	85461	broad.mit.edu	37	chr2	160027192	160027192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggcagaaaacagaggCgcggtggtggttggcaatgt	11	7	17	6	2	0	2	0	0	0	2	0	3	0	2	0	6	2	3	0	6	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160027192C>T	ENST00000263635.6	+	10	1464	c.1227C>T	c.(1225-1227)ggC>ggT	p.G409G	TANC1_ENST00000454300.1_Silent_p.G303G	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	409						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						AAAACAGAGGCGCGGTGGTGG	0.507													T	160027192	C	T	160027192	2	4	364	1	0	0	0	0	0	0	0	1	15641	755	27	1		1	TANC1	2	160027192	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	490242	160027192	83172181	2227	25729											
TANC1	85461	broad.mit.edu	37	chr2	160028716	160028716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcacagctaaaacacCtcttgggtctatcagtgctg	10	11	8	12	0	3	0	1	0	2	0	4	0	4	0	2	1	4	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160028716C>A	ENST00000263635.6	+	11	1673	c.1436C>A	c.(1435-1437)cCt>cAt	p.P479H	TANC1_ENST00000454300.1_Missense_Mutation_p.P373H	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	479						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GCTAAAACACCTCTTGGGTCT	0.463													A	160028716	C	A	160028716	3	1	364	1	0	0	0	0	1	0	0	0	15641	681	24	4	1470	4	TANC1	2	160028716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1524	160028716	83170657	2228	25730											
TANC1	85461	broad.mit.edu	37	chr2	160035532	160035532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggagcagggatgggaaGactttcagcagaggatggac	12	5	19	5	0	1	2	1	0	0	2	1	7	1	7	0	6	2	2	0	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160035532G>T	ENST00000263635.6	+	14	2605	c.2368G>T	c.(2368-2370)Gac>Tac	p.D790Y	TANC1_ENST00000454300.1_Missense_Mutation_p.D684Y	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	790						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GGGATGGGAAGACTTTCAGCA	0.562													T	160035532	G	T	160035532	3	4	364	1	0	0	0	0	1	0	0	0	15641	942	33	4	2414	4	TANC1	2	160035532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6816	160035532	83163841	2229	25731											
TANC1	85461	broad.mit.edu	37	chr2	160055501	160055501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaggtggtccagtgcttgCtggggatggagaaggaacat	10	8	17	6	0	0	1	0	0	0	1	1	5	1	3	1	6	3	2	1	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160055501C>T	ENST00000263635.6	+	19	3418	c.3181C>T	c.(3181-3183)Ctg>Ttg	p.L1061L	TANC1_ENST00000454300.1_Silent_p.L955L	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1061						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						CCAGTGCTTGCTGGGGATGGA	0.463													T	160055501	C	T	160055501	2	4	364	1	0	0	0	0	0	0	0	1	15641	796	28	2		2	TANC1	2	160055501	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19969	160055501	83143872	2230	25732											
TANC1	85461	broad.mit.edu	37	chr2	160074022	160074022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttagccctgactgccgccGcaggaagagggaagctggag	9	6	15	11	2	0	2	0	1	0	1	0	5	0	5	3	3	3	2	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160074022G>A	ENST00000263635.6	+	20	3496	c.3259G>A	c.(3259-3261)Gca>Aca	p.A1087T	TANC1_ENST00000454300.1_Missense_Mutation_p.A981T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1087						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						GACTGCCGCCGCAGGAAGAGG	0.552													A	160074022	G	A	160074022	3	1	364	1	0	0	0	0	1	0	0	0	15641	1087	38	1	3329	1	TANC1	2	160074022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18521	160074022	83125351	2231	25733											
WDSUB1	151525	broad.mit.edu	37	chr2	160092648	160092648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtcatgggacttgtacGtttctttttgctgatccaat	7	19	8	7	1	2	1	1	1	1	0	3	2	3	2	1	1	2	3	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160092648G>A	ENST00000409990.3	-	11	1583	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	WDSUB1_ENST00000392796.3_Missense_Mutation_p.R443C|WDSUB1_ENST00000359774.4_Missense_Mutation_p.R443C|WDSUB1_ENST00000358147.4_Missense_Mutation_p.R351C|WDSUB1_ENST00000409124.1_Missense_Mutation_p.R396C	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	443	U-box.					ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						GGACTTGTACGTTTCTTTTTG	0.363													A	160092648	G	A	160092648	3	1	364	1	0	0	0	0	1	0	0	0	17443	1145	40	1	107	1	WDSUB1	2	160092648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18626	160092648	83106725	2232	25734											
WDSUB1	151525	broad.mit.edu	37	chr2	160136380	160136380	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgttaaatcaccacatgAggagccagtgacaaagaagc	16	6	9	10	0	1	3	1	2	0	1	1	4	1	4	2	1	2	1	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160136380A>T	ENST00000409990.3	-	3	731	c.475T>A	c.(475-477)Tca>Aca	p.S159T	WDSUB1_ENST00000392796.3_Missense_Mutation_p.S159T|WDSUB1_ENST00000359774.4_Missense_Mutation_p.S159T|WDSUB1_ENST00000358147.4_Missense_Mutation_p.S159T|WDSUB1_ENST00000409124.1_Missense_Mutation_p.S159T	NM_001128213.1	NP_001121685	Q8N9V3	WSDU1_HUMAN	WD repeat, sterile alpha motif and U-box domain containing 1	159						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|stomach(3)	16						TCACCACATGAGGAGCCAGTG	0.428													T	160136380	A	T	160136380	3	4	364	1	0	0	0	0	1	0	0	0	17443	304	11	5	991	5	WDSUB1	2	160136380	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43732	160136380	83062993	2233	25735											
BAZ2B	29994	broad.mit.edu	37	chr2	160229666	160229666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacgcaatgagtgagacGcatcaaagagcttccttctg	12	9	10	10	2	2	4	1	3	1	2	3	5	3	4	1	0	2	3	1	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160229666G>A	ENST00000392783.2	-	27	4598	c.4103C>T	c.(4102-4104)gCg>gTg	p.A1368V	BAZ2B_ENST00000392782.1_Missense_Mutation_p.A1332V|BAZ2B_ENST00000343439.5_Missense_Mutation_p.A1268V|BAZ2B_ENST00000355831.2_Missense_Mutation_p.A1334V	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TGAGTGAGACGCATCAAAGAG	0.398													A	160229666	G	A	160229666	3	1	364	1	0	0	0	0	1	0	0	0	1337	1087	38	1	2447	1	BAZ2B	2	160229666	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93286	160229666	82969707	2234	25736											
BAZ2B	29994	broad.mit.edu	37	chr2	160239235	160239235	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagtgggtgtgcccaaGggatgctgctcttctcccag	5	10	14	12	0	2	0	0	0	2	0	3	2	2	2	3	3	3	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160239235G>T	ENST00000392783.2	-	25	4335	c.3840C>A	c.(3838-3840)ccC>ccA	p.P1280P	BAZ2B_ENST00000392782.1_Silent_p.P1244P|BAZ2B_ENST00000343439.5_Silent_p.P1180P|BAZ2B_ENST00000355831.2_Silent_p.P1246P	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	1280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						GTGTGCCCAAGGGATGCTGCT	0.463													T	160239235	G	T	160239235	2	4	364	1	0	0	0	0	0	0	0	1	1337	987	35	4		4	BAZ2B	2	160239235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9569	160239235	82960138	2235	25737											
MARCH7	64844	broad.mit.edu	37	chr2	160599690	160599690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggatcatgattcaaaaaGacctaaactttcctgtacaa	16	10	6	9	1	2	2	2	1	0	1	3	3	3	3	2	1	2	1	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160599690G>T	ENST00000259050.4	+	3	394	c.272G>T	c.(271-273)aGa>aTa	p.R91I	MARCH7_ENST00000409591.1_Missense_Mutation_p.R53I|MARCH7_ENST00000409175.1_Missense_Mutation_p.R91I|MARCH7_ENST00000539065.1_Missense_Mutation_p.R91I|MARCH7_ENST00000473749.1_3'UTR	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase		Ser-rich.						ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						GATTCAAAAAGACCTAAACTT	0.408													T	160599690	G	T	160599690	3	4	364	1	0	0	0	0	1	0	0	0	9381	942	33	4	278	4	MARCH7	2	160599690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360455	160599690	82599683	2236	25738											
MARCH7	64844	broad.mit.edu	37	chr2	160605353	160605353	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaattcagctgatggtaaaAgtgataaaactaaaagtgcg	17	9	11	4	1	1	2	1	2	0	0	1	3	1	3	0	2	3	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160605353A>T	ENST00000259050.4	+	5	1674	c.1552A>T	c.(1552-1554)Agt>Tgt	p.S518C	MARCH7_ENST00000409591.1_Missense_Mutation_p.S480C|MARCH7_ENST00000409175.1_Missense_Mutation_p.S518C|MARCH7_ENST00000539065.1_Missense_Mutation_p.S462C	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						TGATGGTAAAAGTGATAAAAC	0.383													T	160605353	A	T	160605353	3	4	364	1	0	0	0	0	1	0	0	0	9381	72	3	5	1566	5	MARCH7	2	160605353	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5663	160605353	82594020	2237	25739											
LY75	4065	broad.mit.edu	37	chr2	160750522	160750522	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaagaatgcaatcatgAtgccaggtcccatcaattaa	15	10	6	10	0	4	2	4	1	0	1	5	2	5	2	2	1	2	1	2	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160750522A>C	ENST00000263636.4	-	3	567	c.540T>G	c.(538-540)caT>caG	p.H180Q	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.H180Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.H180Q|LY75_ENST00000553424.1_Missense_Mutation_p.H180Q|LY75_ENST00000554112.1_Missense_Mutation_p.H180Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TGCAATCATGATGCCAGGTCC	0.443													C	160750522	A	C	160750522	3	2	364	1	0	0	0	0	1	0	0	0	9170	330	12	5	4760	5	LY75	2	160750522	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	145169	160750522	82448851	2238	25740											
ITGB6	3694	broad.mit.edu	37	chr2	160964245	160964245	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggcaacttctttacgaTcatgaaatgacaccagtagc	13	12	7	9	1	2	2	1	2	1	0	2	3	2	2	1	1	3	2	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160964245T>C	ENST00000283249.2	-	14	2450	c.2213A>G	c.(2212-2214)gAt>gGt	p.D738G	ITGB6_ENST00000409967.2_Missense_Mutation_p.D631G|ITGB6_ENST00000428609.2_Missense_Mutation_p.D696G|ITGB6_ENST00000409872.1_Missense_Mutation_p.D738G	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	738	Interaction with HAX1.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TTCTTTACGATCATGAAATGA	0.463													C	160964245	T	C	160964245	3	2	364	1	0	0	0	0	1	0	0	0	7957	1435	50	3	161	3	ITGB6	2	160964245	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	213723	160964245	82235128	2239	25741											
ITGB6	3694	broad.mit.edu	37	chr2	160993949	160993949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaacatagcctacctccGcagagcagccctttgtgtct	8	12	7	14	1	2	1	1	0	1	1	3	1	3	1	4	0	5	2	4	0	3	4	rs139038668		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160993949G>A	ENST00000283249.2	-	10	1893	c.1656C>T	c.(1654-1656)tgC>tgT	p.C552C	ITGB6_ENST00000409967.2_Silent_p.C552C|ITGB6_ENST00000428609.2_Silent_p.C510C|ITGB6_ENST00000409872.1_Silent_p.C552C	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	552	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCCTACCTCCGCAGAGCAGCC	0.517													A	160993949	G	A	160993949	2	1	364	1	0	0	0	0	0	0	0	1	7957	1079	38	1		1	ITGB6	2	160993949	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29704	160993949	82205424	2240	25742											
ITGB6	3694	broad.mit.edu	37	chr2	160994116	160994116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcaggaatctgtgctcaGcatgtcctcgccacactcac	8	10	8	15	1	3	0	2	0	1	0	5	1	4	1	2	1	3	3	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160994116G>T	ENST00000283249.2	-	10	1726	c.1489C>A	c.(1489-1491)Ctg>Atg	p.L497M	ITGB6_ENST00000409967.2_Missense_Mutation_p.L497M|ITGB6_ENST00000428609.2_Missense_Mutation_p.L455M|ITGB6_ENST00000409872.1_Missense_Mutation_p.L497M	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	497	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TCTGTGCTCAGCATGTCCTCG	0.607													T	160994116	G	T	160994116	3	4	364	1	0	0	0	0	1	0	0	0	7957	962	34	4	901	4	ITGB6	2	160994116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167	160994116	82205257	2241	25743											
ITGB6	3694	broad.mit.edu	37	chr2	160998528	160998528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagctggagaatgtttcCggagtccttctgaagtagac	10	11	12	8	1	2	3	1	1	1	2	4	6	4	4	2	2	1	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:160998528C>T	ENST00000283249.2	-	8	1309	c.1072G>A	c.(1072-1074)Gga>Aga	p.G358R	ITGB6_ENST00000409967.2_Missense_Mutation_p.G358R|ITGB6_ENST00000428609.2_Missense_Mutation_p.G316R|ITGB6_ENST00000409872.1_Missense_Mutation_p.G358R|ITGB6_ENST00000485635.1_5'UTR	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	358	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AGAATGTTTCCGGAGTCCTTC	0.363													T	160998528	C	T	160998528	3	4	364	1	0	0	0	0	1	0	0	0	7957	661	23	1	1326	1	ITGB6	2	160998528	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4412	160998528	82200845	2242	25744											
RBMS1	5937	broad.mit.edu	37	chr2	161159998	161159998	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaggatcttgttcctgttGctaaaacagaagagagtgtt	11	13	12	5	0	1	2	0	0	1	2	2	4	2	3	1	2	2	5	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:161159998G>A	ENST00000348849.3	-	5	833	c.403C>T	c.(403-405)Caa>Taa	p.Q135*	RBMS1_ENST00000409972.1_Splice_Site_p.Q102*|RBMS1_ENST00000392753.3_Splice_Site_p.Q135*|RBMS1_ENST00000474820.1_5'UTR|RBMS1_ENST00000409075.1_Splice_Site_p.Q102*|RBMS1_ENST00000409289.2_Splice_Site_p.Q102*	NM_002897.4|NM_016836.3	NP_002888.1|NP_058520.1	P29558	RBMS1_HUMAN	RNA binding motif, single stranded interacting protein 1	135	RRM 1.				DNA replication|RNA processing	nucleus	double-stranded DNA binding|nucleotide binding|protein binding|RNA binding|single-stranded DNA binding		PLA2R1/RBMS1(2)								TGTTCCTGTTGCTAAAACAGA	0.358													A	161159998	G	A	161159998	5	1	364	1	0	0	0	0	0	0	1	0	13236	1333	46	2	853	2	RBMS1	2	161159998	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161470	161159998	82039375	2243	25745											
DPP4	1803	broad.mit.edu	37	chr2	162903928	162903928	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacctgaaatccatcttaAggagtataacttcagtctat	13	14	5	9	0	3	1	1	1	2	0	4	2	4	2	2	1	2	1	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:162903928A>G	ENST00000360534.3	-	3	738	c.178T>C	c.(178-180)Tta>Cta	p.L60L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	60					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ATCCATCTTAAGGAGTATAAC	0.368													G	162903928	A	G	162903928	2	3	364	1	0	0	0	0	0	0	0	1	4768	69	3	3		3	DPP4	2	162903928	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1743930	162903928	80295445	2244	25746											
IFIH1	64135	broad.mit.edu	37	chr2	163136557	163136557	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcatggctcctgtatttgGtttttcagttgatcaaggtt	6	19	10	6	0	2	1	2	1	0	0	3	1	3	1	1	3	1	6	1	3	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163136557G>A	ENST00000263642.2	-	8	1985	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	530					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						CCTGTATTTGGTTTTTCAGTT	0.328													A	163136557	G	A	163136557	2	1	364	1	0	0	0	0	0	0	0	1	7578	1252	44	2		2	IFIH1	2	163136557	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232629	163136557	80062816	2245	25747											
GCA	25801	broad.mit.edu	37	chr2	163215567	163215567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggttataggttgagTcctcaaacattaactactat	12	17	6	6	0	1	1	1	1	0	0	2	1	2	1	1	2	3	2	1	2	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163215567T>C	ENST00000437150.2	+	6	629	c.468T>C	c.(466-468)agT>agC	p.S156S	GCA_ENST00000233612.4_Silent_p.S137S|GCA_ENST00000429691.2_Intron	NM_012198.3	NP_036330.1	P28676	GRAN_HUMAN	grancalcin, EF-hand calcium binding protein	156	EF-hand 4.				cellular membrane fusion	cytoplasm|plasma membrane	calcium ion binding|protein homodimerization activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	9						ATAGGTTGAGTCCTCAAACAT	0.303													C	163215567	T	C	163215567	2	2	364	1	0	0	0	0	0	0	0	1	6337	1664	58	3		3	GCA	2	163215567	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79010	163215567	79983806	2246	25748											
KCNH7	90134	broad.mit.edu	37	chr2	163291736	163291736	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgacacaaattgaaaaGattttctccgaattcgtgtt	15	13	6	7	2	1	3	0	2	1	1	3	4	1	3	1	0	1	1	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291736G>T	ENST00000332142.5	-	8	2025	c.1926C>A	c.(1924-1926)atC>atA	p.I642I	KCNH7_ENST00000328032.4_Silent_p.I635I	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	642					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity	p.I635I(1)|p.I642I(1)		NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	AAATTGAAAAGATTTTCTCCG	0.333													T	163291736	G	T	163291736	2	4	364	1	0	0	0	0	0	0	0	1	8095	932	33	4		4	KCNH7	2	163291736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76169	163291736	79907637	2247	25749											
KCNH7	90134	broad.mit.edu	37	chr2	163291760	163291760	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccgaattcgtgttaggAgacacattcccgaatcctac	10	12	7	12	3	1	1	0	0	1	1	5	4	3	1	3	1	1	1	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163291760A>T	ENST00000332142.5	-	8	2001	c.1902T>A	c.(1900-1902)tcT>tcA	p.S634S	KCNH7_ENST00000328032.4_Silent_p.S627S	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	634					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCGTGTTAGGAGACACATTCC	0.378													T	163291760	A	T	163291760	2	4	364	1	0	0	0	0	0	0	0	1	8095	291	11	5		5	KCNH7	2	163291760	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24	163291760	79907613	2248	25750											
KCNH7	90134	broad.mit.edu	37	chr2	163374646	163374646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgagaactctcagaccaggGaatttgaacccaaaaaattt	16	9	8	8	0	1	3	1	2	1	2	2	5	1	4	2	1	2	0	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:163374646G>A	ENST00000332142.5	-	4	585	c.486C>T	c.(484-486)ttC>ttT	p.F162F	KCNH7_ENST00000477019.1_5'UTR|KCNH7_ENST00000328032.4_Silent_p.F162F	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	162					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TCAGACCAGGGAATTTGAACC	0.388													A	163374646	G	A	163374646	2	1	364	1	0	0	0	0	0	0	0	1	8095	1165	41	2		2	KCNH7	2	163374646	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82886	163374646	79824727	2249	25751											
FIGN	55137	broad.mit.edu	37	chr2	164468291	164468291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctggccactgggcatgCtctggcgtccactgcatctt	4	13	11	13	1	3	0	0	0	3	0	4	0	4	0	2	3	2	4	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:164468291C>A	ENST00000333129.3	-	3	365	c.51G>T	c.(49-51)gaG>gaT	p.E17D	FIGN_ENST00000482917.1_5'UTR|FIGN_ENST00000409634.1_Intron	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	17						nuclear matrix	ATP binding|nucleoside-triphosphatase activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						ACTGGGCATGCTCTGGCGTCC	0.478													A	164468291	C	A	164468291	3	1	364	1	0	0	0	0	1	0	0	0	5940	796	28	4	2232	4	FIGN	2	164468291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1093645	164468291	78731082	2250	25752											
COBLL1	22837	broad.mit.edu	37	chr2	165561493	165561493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattttcatcactttgatgCgggggtattttggagggtgg	6	16	14	5	1	2	1	2	1	0	0	2	2	2	2	0	5	1	1	0	5	2	7	rs138711091	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165561493C>T	ENST00000375458.2	-	7	1340	c.1119G>A	c.(1117-1119)ccG>ccA	p.P373P	COBLL1_ENST00000194871.6_Silent_p.P439P|COBLL1_ENST00000409184.3_Silent_p.P411P|COBLL1_ENST00000392717.2_Silent_p.P411P|COBLL1_ENST00000342193.4_Silent_p.P373P|COBLL1_ENST00000491126.2_5'UTR	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	411										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CACTTTGATGCGGGGGTATTT	0.423													T	165561493	C	T	165561493	2	4	364	1	0	0	0	0	0	0	0	1	3685	755	27	1		1	COBLL1	2	165561493	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1093202	165561493	77637880	2251	25753											
SCN3A	6328	broad.mit.edu	37	chr2	165947770	165947770	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcctttgatcagacgtagGattcggccaatcctggcaag	9	10	11	11	2	1	2	1	1	0	1	4	3	3	3	3	3	0	3	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165947770G>A	ENST00000360093.3	-	28	5384	c.4893C>T	c.(4891-4893)atC>atT	p.I1631I	SCN3A_ENST00000540861.1_Silent_p.I114I|AC013463.2_ENST00000431341.1_RNA|SCN3A_ENST00000283254.7_Silent_p.I1631I|SCN3A_ENST00000409101.3_Silent_p.I1582I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1631						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TCAGACGTAGGATTCGGCCAA	0.488													A	165947770	G	A	165947770	2	1	364	1	0	0	0	0	0	0	0	1	14011	1164	41	2		2	SCN3A	2	165947770	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386277	165947770	77251603	2252	25754											
SCN3A	6328	broad.mit.edu	37	chr2	165953937	165953937	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaacttgccagcaaacaaaTtcacacccatgatgctaaag	17	7	6	11	0	1	2	1	1	0	1	1	2	1	2	2	0	5	2	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165953937T>G	ENST00000360093.3	-	23	4555	c.4064A>C	c.(4063-4065)aAt>aCt	p.N1355T	SCN3A_ENST00000283254.7_Missense_Mutation_p.N1355T|SCN3A_ENST00000409101.3_Missense_Mutation_p.N1306T	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1355						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGCAAACAAATTCACACCCAT	0.423													G	165953937	T	G	165953937	3	3	364	1	0	0	0	0	1	0	0	0	14011	1493	52	5	1962	5	SCN3A	2	165953937	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6167	165953937	77245436	2253	25755											
SCN3A	6328	broad.mit.edu	37	chr2	165986519	165986519	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttggccagcgacctccatAcagtcccacatggtctctat	8	11	8	14	1	1	0	0	0	1	0	4	1	3	0	4	2	2	1	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986519A>G	ENST00000360093.3	-	17	3344	c.2853T>C	c.(2851-2853)tgT>tgC	p.C951C	SCN3A_ENST00000283254.7_Silent_p.C951C|SCN3A_ENST00000409101.3_Silent_p.C902C	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	951						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CGACCTCCATACAGTCCCACA	0.473													G	165986519	A	G	165986519	2	3	364	1	0	0	0	0	0	0	0	1	14011	389	14	3		3	SCN3A	2	165986519	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32582	165986519	77212854	2254	25756											
SCN3A	6328	broad.mit.edu	37	chr2	165986696	165986696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacagcaaaaatgaagacGatgatggccaacaccaaggt	18	4	9	10	1	0	3	0	2	0	1	0	4	0	3	3	2	2	1	3	2	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165986696G>A	ENST00000360093.3	-	17	3167	c.2676C>T	c.(2674-2676)atC>atT	p.I892I	SCN3A_ENST00000283254.7_Silent_p.I892I|SCN3A_ENST00000409101.3_Silent_p.I843I	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	892						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AAATGAAGACGATGATGGCCA	0.468													A	165986696	G	A	165986696	2	1	364	1	0	0	0	0	0	0	0	1	14011	1048	37	1		1	SCN3A	2	165986696	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177	165986696	77212677	2255	25757											
SCN3A	6328	broad.mit.edu	37	chr2	165997339	165997339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctctccatgtctgtgcGgcacaaacagtgagtctctc	7	11	10	13	2	3	1	0	1	3	0	7	1	3	1	1	1	2	2	1	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:165997339G>A	ENST00000360093.3	-	13	2332	c.1841C>T	c.(1840-1842)cCg>cTg	p.P614L	SCN3A_ENST00000283254.7_Missense_Mutation_p.P614L|SCN3A_ENST00000409101.3_Missense_Mutation_p.P614L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	614						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATGTCTGTGCGGCACAAACAG	0.502													A	165997339	G	A	165997339	3	1	364	1	0	0	0	0	1	0	0	0	14011	1116	39	1	4225	1	SCN3A	2	165997339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10643	165997339	77202034	2256	25758											
SCN2A	6326	broad.mit.edu	37	chr2	166152580	166152580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccctggaggatctggacCcctactatatcaataagaaa	13	9	8	11	0	2	1	1	0	1	1	2	4	2	4	4	3	2	0	4	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166152580C>T	ENST00000357398.3	+	2	537	c.247C>T	c.(247-249)Ccc>Tcc	p.P83S	SCN2A_ENST00000283256.6_Missense_Mutation_p.P83S|SCN2A_ENST00000375427.2_Missense_Mutation_p.P83S|SCN2A_ENST00000375437.2_Missense_Mutation_p.P83S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	83					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GGATCTGGACCCCTACTATAT	0.453													T	166152580	C	T	166152580	3	4	364	1	0	0	0	0	1	0	0	0	14009	623	22	2	249	2	SCN2A	2	166152580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155241	166152580	77046793	2257	25759											
SCN2A	6326	broad.mit.edu	37	chr2	166179943	166179943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgcatagcgctgtggactGcaatggtgtggtctccctgg	6	11	15	9	1	1	0	0	0	1	0	2	2	1	1	1	4	3	3	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166179943G>A	ENST00000357398.3	+	12	2239	c.1949G>A	c.(1948-1950)tGc>tAc	p.C650Y	SCN2A_ENST00000283256.6_Missense_Mutation_p.C650Y|SCN2A_ENST00000375427.2_Missense_Mutation_p.C650Y|SCN2A_ENST00000375437.2_Missense_Mutation_p.C650Y			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	650					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	GCTGTGGACTGCAATGGTGTG	0.592													A	166179943	G	A	166179943	3	1	364	1	0	0	0	0	1	0	0	0	14009	1319	46	2	2087	2	SCN2A	2	166179943	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27363	166179943	77019430	2258	25760											
SCN2A	6326	broad.mit.edu	37	chr2	166245552	166245552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcagttaaaggagacTgtgggaacccatctgttggg	11	9	14	7	0	2	1	1	0	1	1	2	4	2	2	1	3	2	3	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166245552T>C	ENST00000357398.3	+	27	5526	c.5236T>C	c.(5236-5238)Tgt>Cgt	p.C1746R	SCN2A_ENST00000283256.6_Missense_Mutation_p.C1746R|SCN2A_ENST00000375427.2_Missense_Mutation_p.C1746R|SCN2A_ENST00000375437.2_Missense_Mutation_p.C1746R			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1746					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TAAAGGAGACTGTGGGAACCC	0.468													C	166245552	T	C	166245552	3	2	364	1	0	0	0	0	1	0	0	0	14009	1580	55	3	5434	3	SCN2A	2	166245552	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	65609	166245552	76953821	2259	25761											
CSRNP3	80034	broad.mit.edu	37	chr2	166514426	166514426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccgccataacagcgtgCgccagtacactcttggcgag	9	6	11	15	4	1	0	0	0	1	0	1	1	1	0	4	1	5	1	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166514426C>T	ENST00000314499.7	+	5	680	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R102C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R134C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	102					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TAACAGCGTGCGCCAGTACAC	0.552													T	166514426	C	T	166514426	3	4	364	1	0	0	0	0	1	0	0	0	3998	768	27	1	310	1	CSRNP3	2	166514426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268874	166514426	76684947	2260	25762											
CSRNP3	80034	broad.mit.edu	37	chr2	166532972	166532972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaacgaagagctctgctgCgtgcctctggagtgaaaaag	14	7	12	8	2	2	2	0	1	2	1	2	4	2	3	1	1	5	2	1	1	5	0	rs150240455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166532972C>T	ENST00000314499.7	+	6	935	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C	CSRNP3_ENST00000342316.4_Missense_Mutation_p.R187C|CSRNP3_ENST00000409420.1_Missense_Mutation_p.R219C	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	187					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						AGCTCTGCTGCGTGCCTCTGG	0.493													T	166532972	C	T	166532972	3	4	364	1	0	0	0	0	1	0	0	0	3998	768	27	1	569	1	CSRNP3	2	166532972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18546	166532972	76666401	2261	25763											
CSRNP3	80034	broad.mit.edu	37	chr2	166535949	166535949	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaattcgttgactatgccCgacaagcagaagaggcctat	13	8	10	10	2	0	3	0	1	0	2	1	4	0	3	2	1	3	3	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166535949C>T	ENST00000314499.7	+	7	1820	c.1444C>T	c.(1444-1446)Cga>Tga	p.R482*	CSRNP3_ENST00000342316.4_Nonsense_Mutation_p.R482*|CSRNP3_ENST00000409420.1_Nonsense_Mutation_p.R514*	NM_001172173.1	NP_001165644.1	Q8WYN3	CSRN3_HUMAN	cysteine-serine-rich nuclear protein 3	482					apoptosis|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(9)|lung(15)|ovary(3)|skin(2)	33						TGACTATGCCCGACAAGCAGA	0.517													T	166535949	C	T	166535949	4	4	364	1	0	0	0	0	0	1	0	0	3998	644	23	1	1458	1	CSRNP3	2	166535949	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2977	166535949	76663424	2262	25764											
TTC21B	79809	broad.mit.edu	37	chr2	166737287	166737287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttccataatgtatcccataTattcataagctttgcagcaa	13	15	4	9	0	1	0	1	0	0	0	3	0	3	0	2	0	3	4	2	0	6	8	rs144130537	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166737287T>C	ENST00000243344.7	-	27	3844	c.3707A>G	c.(3706-3708)tAt>tGt	p.Y1236C	TTC21B_ENST00000536175.1_Missense_Mutation_p.Y174C	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1236						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						GTATCCCATATATTCATAAGC	0.368													C	166737287	T	C	166737287	3	2	364	1	0	0	0	0	1	0	0	0	16790	1406	49	3	255	3	TTC21B	2	166737287	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	201338	166737287	76462086	2263	25765											
TTC21B	79809	broad.mit.edu	37	chr2	166747469	166747469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacatcttcttaggagatCaatcaaacgagataatgtca	15	11	6	9	1	5	2	3	0	2	2	6	4	6	2	1	1	1	0	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166747469C>T	ENST00000243344.7	-	23	3117	c.2980G>A	c.(2980-2982)Gat>Aat	p.D994N		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	994						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTTAGGAGATCAATCAAACGA	0.338													T	166747469	C	T	166747469	3	4	364	1	0	0	0	0	1	0	0	0	16790	826	29	2	998	2	TTC21B	2	166747469	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10182	166747469	76451904	2264	25766											
TTC21B	79809	broad.mit.edu	37	chr2	166775891	166775891	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatgagcatcagcataagaGggattgtgttctaagcagtg	13	10	13	5	0	2	3	1	1	1	2	2	4	2	4	0	1	3	4	0	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166775891G>T	ENST00000243344.7	-	13	1706	c.1569C>A	c.(1567-1569)ccC>ccA	p.P523P		NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	523						cilium axoneme|cytoplasm|cytoskeleton	binding			breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CAGCATAAGAGGGATTGTGTT	0.353													T	166775891	G	T	166775891	2	4	364	1	0	0	0	0	0	0	0	1	16790	987	35	4		4	TTC21B	2	166775891	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28422	166775891	76423482	2265	25767											
SCN1A	6323	broad.mit.edu	37	chr2	166847988	166847988	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagcttgttttacagttcGctttaaaaggtggcgtctgt	8	15	12	6	2	1	0	0	0	1	0	2	1	1	1	0	3	2	4	0	3	4	6	rs146304578	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166847988G>A	ENST00000423058.2	-	26	5814	c.5797C>T	c.(5797-5799)Cga>Tga	p.R1933*	SCN1A_ENST00000303395.4_Nonsense_Mutation_p.R1933*|SCN1A_ENST00000375405.3_Nonsense_Mutation_p.R1922*|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Nonsense_Mutation_p.R1905*|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1933						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1922*(1)		NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	TTTACAGTTCGCTTTAAAAGG	0.358													A	166847988	G	A	166847988	4	1	364	1	0	0	0	0	0	1	0	0	14007	1095	38	1	236	1	SCN1A	2	166847988	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72097	166847988	76351385	2266	25768											
SCN1A	6323	broad.mit.edu	37	chr2	166848361	166848361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttctcccaaacctcataGaacatctcaaagtcatcctc	14	10	2	15	0	4	1	3	0	2	1	8	1	5	1	3	0	3	0	3	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166848361G>T	ENST00000423058.2	-	26	5441	c.5424C>A	c.(5422-5424)ttC>ttA	p.F1808L	SCN1A_ENST00000303395.4_Missense_Mutation_p.F1808L|SCN1A_ENST00000375405.3_Missense_Mutation_p.F1797L|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.F1780L|AC010127.3_ENST00000597623.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1808			F -> L (in ICEGTC; dbSNP:rs121918757).|Missing (in SMEI).			voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAACCTCATAGAACATCTCAA	0.458													T	166848361	G	T	166848361	3	4	364	1	0	0	0	0	1	0	0	0	14007	933	33	4	609	4	SCN1A	2	166848361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	373	166848361	76351012	2267	25769											
SCN1A	6323	broad.mit.edu	37	chr2	166911241	166911241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttgcaataatttttataAgtgattcaaaagtatatatt	15	17	4	5	0	1	1	1	1	0	0	1	1	1	1	1	0	1	2	1	0	9	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:166911241A>G	ENST00000423058.2	-	4	526	c.509T>C	c.(508-510)cTt>cCt	p.L170P	SCN1A_ENST00000303395.4_Missense_Mutation_p.L170P|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.L170P|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.L170P|AC010127.3_ENST00000595268.1_RNA	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	170						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AATTTTTATAAGTGATTCAAA	0.328													G	166911241	A	G	166911241	3	3	364	1	0	0	0	0	1	0	0	0	14007	72	3	3	5612	3	SCN1A	2	166911241	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62880	166911241	76288132	2268	25770											
SCN9A	6335	broad.mit.edu	37	chr2	167055991	167055992	+	Frame_Shift_Ins	INS	-	-	T																															actgaacttccaggatgaacINStttttttgggtcacagtcgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167055991_167055992insT	ENST00000375387.4	-	27	5500_5501	c.5160_5161insA	c.(5158-5163)aaagttfs	p.V1721fs	SCN9A_ENST00000409672.1_Frame_Shift_Ins_p.V1709fs|SCN9A_ENST00000409435.1_Frame_Shift_Ins_p.V1720fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000303354.6_Frame_Shift_Ins_p.V1721fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1720						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	CCAGGATGAACTTTTTTTGGGT	0.421													T	167055992	-	T	167055991	7	5	364	1	0	1	1	0	0	0	0	0	14018	565	20	0	812	0	SCN9A	2	167055991	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	144750	167055991	76143382	2269	25771											
SCN9A	6335	broad.mit.edu	37	chr2	167168078	167168078	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgggaggaatgtccccAtagatgaagggcagctgttt	10	9	14	8	1	0	2	0	1	0	1	1	4	1	4	3	3	2	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:167168078A>G	ENST00000303354.6	-	2	529	c.189T>C	c.(187-189)taT>taC	p.Y63Y	SCN9A_ENST00000409435.1_Silent_p.Y63Y|SCN9A_ENST00000409672.1_Silent_p.Y63Y|SCN9A_ENST00000375387.4_Silent_p.Y63Y			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	63						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATGTCCCCATAGATGAAGG	0.473													G	167168078	A	G	167168078	2	3	364	1	0	0	0	0	0	0	0	1	14018	224	8	3		3	SCN9A	2	167168078	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	112087	167168078	76031295	2270	25772											
XIRP2	129446	broad.mit.edu	37	chr2	168102966	168102966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaaaaaggagatattaaCatgactatctattgtcttct	15	14	7	5	0	3	3	0	2	3	1	3	5	3	3	0	1	1	0	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168102966C>T	ENST00000409195.1	+	9	5153	c.5064C>T	c.(5062-5064)aaC>aaT	p.N1688N	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Silent_p.N1688N|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Silent_p.N1466N|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1513					actin cytoskeleton organization	cell junction	actin binding	p.N1688K(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GAGATATTAACATGACTATCT	0.338													T	168102966	C	T	168102966	2	4	364	1	0	0	0	0	0	0	0	1	17532	477	17	2		2	XIRP2	2	168102966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	934888	168102966	75096407	2271	25773											
XIRP2	129446	broad.mit.edu	37	chr2	168103716	168103716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaagaagtttcaaagaGgtacataaagaaggtgtaat	19	8	10	4	0	1	3	1	0	0	3	1	3	1	3	0	2	1	4	0	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168103716G>T	ENST00000409195.1	+	9	5903	c.5814G>T	c.(5812-5814)gaG>gaT	p.E1938D	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.E1938D|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.E1716D|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	1763					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTTTCAAAGAGGTACATAAAG	0.388													T	168103716	G	T	168103716	3	4	364	1	0	0	0	0	1	0	0	0	17532	991	35	4	5844	4	XIRP2	2	168103716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	750	168103716	75095657	2272	25774											
XIRP2	129446	broad.mit.edu	37	chr2	168106741	168106741	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgccttaaatatagtggaaTtcttgagaaaacgtgaagaa	16	11	10	4	1	1	3	0	2	1	2	1	5	1	4	1	1	2	0	1	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168106741T>G	ENST00000409195.1	+	9	8928	c.8839T>G	c.(8839-8841)Ttc>Gtc	p.F2947V	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.F2947V|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.F2725V|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2772					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TATAGTGGAATTCTTGAGAAA	0.368													G	168106741	T	G	168106741	3	3	364	1	0	0	0	0	1	0	0	0	17532	1493	52	5	8869	5	XIRP2	2	168106741	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3025	168106741	75092632	2273	25775											
XIRP2	129446	broad.mit.edu	37	chr2	168107137	168107137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataaaattgccaaagagaaaAcagtacagcaccaagtagca	21	5	7	8	0	0	1	0	0	0	1	0	2	0	1	2	0	5	4	2	0	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168107137A>G	ENST00000409195.1	+	9	9324	c.9235A>G	c.(9235-9237)Aca>Gca	p.T3079A	XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000295237.9_Missense_Mutation_p.T3079A|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000409273.1_Missense_Mutation_p.T2857A|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2904				E -> G (in Ref. 8; CAD91137).	actin cytoskeleton organization	cell junction	actin binding	p.T3079A(1)		NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						CAAAGAGAAAACAGTACAGCA	0.368													G	168107137	A	G	168107137	3	3	364	1	0	0	0	0	1	0	0	0	17532	43	2	3	9265	3	XIRP2	2	168107137	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	396	168107137	75092236	2274	25776											
XIRP2	129446	broad.mit.edu	37	chr2	168114997	168114997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgagtgaagctgaagaCacaaagagtaacaggaaaag	19	3	13	6	1	0	4	0	2	0	2	0	6	0	5	1	2	2	2	1	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168114997C>T	ENST00000409728.1	+	11	2129	c.2040C>T	c.(2038-2040)gaC>gaT	p.D680D	XIRP2_ENST00000409605.1_Silent_p.D425D|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Silent_p.D647D|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Silent_p.D680D|XIRP2_ENST00000409043.1_Silent_p.D647D	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2758					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AAGCTGAAGACACAAAGAGTA	0.358													T	168114997	C	T	168114997	2	4	364	1	0	0	0	0	0	0	0	1	17532	477	17	2		2	XIRP2	2	168114997	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7860	168114997	75084376	2275	25777											
XIRP2	129446	broad.mit.edu	37	chr2	168115079	168115080	+	Frame_Shift_Ins	INS	-	-	A																															tgctgaaaaggagaaaaatgINSaaaaaactaaccaaactaat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115079_168115080insA	ENST00000409728.1	+	11	2211_2212	c.2122_2123insA	c.(2122-2124)gaafs	p.E708fs	XIRP2_ENST00000420519.1_Frame_Shift_Ins_p.E708fs|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409605.1_Frame_Shift_Ins_p.E453fs|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Frame_Shift_Ins_p.E675fs|XIRP2_ENST00000409043.1_Frame_Shift_Ins_p.E675fs|XIRP2_ENST00000409273.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GGAGAAAAATGAAAAAACTAAC	0.342													A	168115080	-	A	168115079	7	5	364	1	0	1	1	0	0	0	0	0	17532	1291	45	0	11440	0	XIRP2	2	168115079	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	82	168115079	75084294	2276	25778											
XIRP2	129446	broad.mit.edu	37	chr2	168115641	168115641	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgatttaatagattctgTagatcaaattaaaaatatgc	16	16	6	3	0	2	3	1	1	1	2	2	3	2	3	0	0	1	1	0	0	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:168115641T>C	ENST00000409728.1	+	11	2773	c.2684T>C	c.(2683-2685)gTa>gCa	p.V895A	XIRP2_ENST00000409605.1_Missense_Mutation_p.V640A|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.V862A|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.V895A|XIRP2_ENST00000409043.1_Missense_Mutation_p.V862A	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization	cell junction	actin binding			NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						ATAGATTCTGTAGATCAAATT	0.318													C	168115641	T	C	168115641	3	2	364	1	0	0	0	0	1	0	0	0	17532	1638	57	3	12002	3	XIRP2	2	168115641	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	562	168115641	75083732	2277	25779											
NOSTRIN	115677	broad.mit.edu	37	chr2	169717336	169717336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctatgtgaaaatatctcGgccttttttaatgaagagat	13	15	8	5	1	1	3	0	2	1	1	2	4	1	3	1	1	1	1	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169717336G>A	ENST00000444448.2	+	17	1858	c.1382G>A	c.(1381-1383)cGg>cAg	p.R461Q	NOSTRIN_ENST00000317647.7_Missense_Mutation_p.R404Q|NOSTRIN_ENST00000421711.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000397206.2_Missense_Mutation_p.R326Q|NOSTRIN_ENST00000397209.2_Missense_Mutation_p.R376Q|NOSTRIN_ENST00000458381.2_Missense_Mutation_p.R461Q|NOSTRIN_ENST00000445023.2_Missense_Mutation_p.R326Q			Q8IVI9	NOSTN_HUMAN	nitric oxide synthase trafficking	404	SH3.				endocytosis|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytoplasmic membrane-bounded vesicle|cytoskeleton|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						AAAATATCTCGGCCTTTTTTA	0.368													A	169717336	G	A	169717336	3	1	364	1	0	0	0	0	1	0	0	0	10622	1116	39	1	1440	1	NOSTRIN	2	169717336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1601695	169717336	73482037	2278	25780											
SPC25	57405	broad.mit.edu	37	chr2	169745979	169745979	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccgtacttttgaatttattCcaaaattcatttatgctttt	10	21	3	7	1	1	1	1	1	0	0	3	1	3	1	2	0	2	2	2	0	6	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169745979C>T	ENST00000282074.2	-	2	192	c.51G>A	c.(49-51)tgG>tgA	p.W17*	SPC25_ENST00000472216.2_5'UTR	NM_020675.3	NP_065726.1	Q9HBM1	SPC25_HUMAN	SPC25, NDC80 kinetochore complex component	17	Interaction with the N-terminus of SPBC24.|Interaction with the NDC80-NUF2 subcomplex.				cell division|chromosome segregation|mitotic prometaphase|mitotic spindle organization	condensed chromosome kinetochore|cytosol|Ndc80 complex|nucleus	protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	9						TGAATTTATTCCAAAATTCAT	0.368													T	169745979	C	T	169745979	4	4	364	1	0	0	0	0	0	1	0	0	15118	856	30	2	647	2	SPC25	2	169745979	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28643	169745979	73453394	2279	25781											
ABCB11	8647	broad.mit.edu	37	chr2	169780225	169780225	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttcaatcaccaccccCtgtgccatgacagcaatgat	10	10	5	16	0	2	2	2	2	0	0	2	2	2	2	5	0	2	1	5	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:169780225C>A	ENST00000263817.6	-	28	3997	c.3873G>T	c.(3871-3873)caG>caT	p.Q1291H		NM_003742.2	NP_003733.2	O95342	ABCBB_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 11	1291	ABC transporter 2.				bile acid biosynthetic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|bile acid-exporting ATPase activity|canalicular bile acid transmembrane transporter activity|sodium-exporting ATPase activity, phosphorylative mechanism			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(16)|lung(26)|ovary(3)|stomach(1)	57					Adenosine triphosphate(DB00171)|Bosentan(DB00559)|Glibenclamide(DB01016)	TCACCACCCCCTGTGCCATGA	0.522													A	169780225	C	A	169780225	3	1	364	1	0	0	0	0	1	0	0	0	42	680	24	4	96	4	ABCB11	2	169780225	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34246	169780225	73419148	2280	25782											
LRP2	4036	broad.mit.edu	37	chr2	170012830	170012830	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcactcatagacgtgaaGccatcagcacagacacactc	13	6	8	14	2	3	3	3	1	0	2	4	3	3	3	1	1	2	1	1	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170012830G>T	ENST00000263816.3	-	65	12390	c.12105C>A	c.(12103-12105)ggC>ggA	p.G4035G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	4035	EGF-like 15; calcium-binding (Potential).				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TAGACGTGAAGCCATCAGCAC	0.428													T	170012830	G	T	170012830	2	4	364	1	0	0	0	0	0	0	0	1	9026	958	34	4		4	LRP2	2	170012830	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232605	170012830	73186543	2281	25783											
LRP2	4036	broad.mit.edu	37	chr2	170013930	170013930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcgaacccagctgtacaGgagcagataaatcctccttc	11	10	8	12	1	0	1	0	0	0	1	4	3	2	2	3	1	4	4	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170013930G>T	ENST00000263816.3	-	64	12255	c.11970C>A	c.(11968-11970)tcC>tcA	p.S3990S		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3990	EGF-like 14.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCTGTACAGGAGCAGATAA	0.358													T	170013930	G	T	170013930	2	4	364	1	0	0	0	0	0	0	0	1	9026	987	35	4		4	LRP2	2	170013930	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1100	170013930	73185443	2282	25784											
LRP2	4036	broad.mit.edu	37	chr2	170062575	170062575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcttggttttggaacgCgggctatcacagtgcggtta	6	14	13	8	3	2	0	1	0	1	0	2	1	2	1	0	4	3	4	0	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170062575C>T	ENST00000263816.3	-	40	7799	c.7514G>A	c.(7513-7515)cGc>cAc	p.R2505H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2505					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTTGGAACGCGGGCTATCAC	0.428													T	170062575	C	T	170062575	3	4	364	1	0	0	0	0	1	0	0	0	9026	768	27	1	6613	1	LRP2	2	170062575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48645	170062575	73136798	2283	25785											
LRP2	4036	broad.mit.edu	37	chr2	170094773	170094773	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacactgtcggcaataattTtgttctgacttgccacaagt	10	14	8	9	1	1	2	0	2	1	0	2	2	1	2	1	1	1	2	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170094773T>G	ENST00000263816.3	-	27	4619	c.4334A>C	c.(4333-4335)aAa>aCa	p.K1445T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1445					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GGCAATAATTTTGTTCTGACT	0.378													G	170094773	T	G	170094773	3	3	364	1	0	0	0	0	1	0	0	0	9026	1841	64	5	9845	5	LRP2	2	170094773	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32198	170094773	73104600	2284	25786											
LRP2	4036	broad.mit.edu	37	chr2	170103217	170103217	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgcatagctacttactaAgtgtgccacatagttgctca	11	12	8	10	0	1	0	1	0	0	0	1	0	1	0	1	0	6	4	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170103217A>T	ENST00000263816.3	-	21	3473	c.3188T>A	c.(3187-3189)cTt>cAt	p.L1063H	LRP2_ENST00000443831.1_Missense_Mutation_p.L926H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1063					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTACTTACTAAGTGTGCCACA	0.398													T	170103217	A	T	170103217	3	4	364	1	0	0	0	0	1	0	0	0	9026	72	3	5	11015	5	LRP2	2	170103217	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8444	170103217	73096156	2285	25787											
LRP2	4036	broad.mit.edu	37	chr2	170175364	170175364	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgtccctcactctggcacTtgaaatagccctgctggcag	8	11	9	13	0	2	1	1	1	1	0	3	1	3	1	2	2	2	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170175364T>G	ENST00000263816.3	-	3	503	c.218A>C	c.(217-219)aAg>aCg	p.K73T	LRP2_ENST00000443831.1_Missense_Mutation_p.K73T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	73	LDL-receptor class A 2.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTCTGGCACTTGAAATAGCC	0.463													G	170175364	T	G	170175364	3	3	364	1	0	0	0	0	1	0	0	0	9026	1609	56	5	14057	5	LRP2	2	170175364	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	72147	170175364	73024009	2286	25788											
LRP2	4036	broad.mit.edu	37	chr2	170177288	170177288	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcccctcctcacttaccGcagccaatttcatccgcgtc	6	10	6	19	3	2	0	2	0	0	0	5	0	4	0	6	1	2	1	6	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170177288G>A	ENST00000263816.3	-	2	471	c.186C>T	c.(184-186)tgC>tgT	p.C62C	LRP2_ENST00000443831.1_Splice_Site_p.C62C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	62	LDL-receptor class A 1.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTCACTTACCGCAGCCAATTT	0.488													A	170177288	G	A	170177288	5	1	364	1	0	0	0	0	0	0	1	0	9026	1101	38	1	14093	1	LRP2	2	170177288	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1924	170177288	73022085	2287	25789											
BBS5	129880	broad.mit.edu	37	chr2	170344594	170344594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggttcctggaagccctaGactttttacttctgtgatgg	6	17	10	8	0	1	2	0	1	1	1	2	3	2	3	2	3	2	1	2	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170344594G>T	ENST00000295240.3	+	5	732	c.356G>T	c.(355-357)aGa>aTa	p.R119I	RP11-724O16.1_ENST00000513963.1_Missense_Mutation_p.R119I|BBS5_ENST00000554017.1_Missense_Mutation_p.R119I|BBS5_ENST00000392663.2_Missense_Mutation_p.R119I	NM_152384.2	NP_689597.1			Bardet-Biedl syndrome 5											endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GGAAGCCCTAGACTTTTTACT	0.338									Bardet-Biedl syndrome				T	170344594	G	T	170344594	3	4	364	1	0	0	0	0	1	0	0	0	1345	942	33	4	374	4	BBS5	2	170344594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167306	170344594	72854779	2288	25790											
PPIG	9360	broad.mit.edu	37	chr2	170471162	170471162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagagattgaaaaccagaaaAcagatgcagctagcaaaccg	19	4	10	8	1	0	4	0	1	0	3	0	6	0	4	2	0	6	3	2	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170471162A>G	ENST00000260970.3	+	9	695	c.475A>G	c.(475-477)Aca>Gca	p.T159A	PPIG_ENST00000462903.1_Missense_Mutation_p.T159A|PPIG_ENST00000448752.2_Missense_Mutation_p.T159A|PPIG_ENST00000409714.3_Missense_Mutation_p.T144A	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	159	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	AAACCAGAAAACAGATGCAGC	0.358													G	170471162	A	G	170471162	3	3	364	1	0	0	0	0	1	0	0	0	12406	43	2	3	501	3	PPIG	2	170471162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	126568	170471162	72728211	2289	25791											
PPIG	9360	broad.mit.edu	37	chr2	170489682	170489682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttctagtaatccacctaaCtcccagcctgcttcatacca	10	11	3	17	0	2	0	1	0	1	0	4	0	4	0	6	0	4	2	6	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170489682C>A	ENST00000260970.3	+	12	1162	c.942C>A	c.(940-942)aaC>aaA	p.N314K	PPIG_ENST00000462903.1_Missense_Mutation_p.N314K|PPIG_ENST00000448752.2_Missense_Mutation_p.N314K|PPIG_ENST00000409714.3_Missense_Mutation_p.N299K|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	314					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	ATCCACCTAACTCCCAGCCTG	0.393													A	170489682	C	A	170489682	3	1	364	1	0	0	0	0	1	0	0	0	12406	564	20	4	980	4	PPIG	2	170489682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18520	170489682	72709691	2290	25792											
PPIG	9360	broad.mit.edu	37	chr2	170492668	170492668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgagactcctccacatTggaggcaagagatgcagaga	13	7	13	8	0	0	3	0	1	0	3	2	7	2	4	2	2	1	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:170492668T>C	ENST00000260970.3	+	13	1304	c.1084T>C	c.(1084-1086)Tgg>Cgg	p.W362R	PPIG_ENST00000448752.2_Missense_Mutation_p.W362R|PPIG_ENST00000409714.3_Missense_Mutation_p.W347R|PPIG_ENST00000482772.1_3'UTR	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	362					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	TCCTCCACATTGGAGGCAAGA	0.378													C	170492668	T	C	170492668	3	2	364	1	0	0	0	0	1	0	0	0	12406	1812	63	3	1126	3	PPIG	2	170492668	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2986	170492668	72706705	2291	25793											
MYO3B	140469	broad.mit.edu	37	chr2	171256710	171256710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaggaggtgcactcaGtgtacagaattttggctggg	8	13	13	7	0	2	1	2	0	0	1	2	2	2	2	0	4	2	3	0	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171256710G>T	ENST00000334231.6	+	17	1831	c.1831G>T	c.(1831-1833)Gtg>Ttg	p.V611L	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.V602L|MYO3B_ENST00000408978.4_Missense_Mutation_p.V602L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	602	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGTGCACTCAGTGTACAGAAT	0.413													T	171256710	G	T	171256710	3	4	364	1	0	0	0	0	1	0	0	0	10153	1029	36	4	1870	4	MYO3B	2	171256710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	764042	171256710	71942663	2292	25794											
GAD1	2571	broad.mit.edu	37	chr2	171675163	171675163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcgggagcggaccccaataCcactaacctgcgccccacaa	11	3	9	18	4	0	0	0	0	0	0	0	2	0	2	6	2	4	0	6	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171675163C>T	ENST00000358196.3	+	2	612	c.62C>T	c.(61-63)aCc>aTc	p.T21I	GAD1_ENST00000429023.1_3'UTR|GAD1_ENST00000344257.5_Missense_Mutation_p.T21I|GAD1_ENST00000375272.1_Missense_Mutation_p.T21I	NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	21					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GACCCCAATACCACTAACCTG	0.627													T	171675163	C	T	171675163	3	4	364	1	0	0	0	0	1	0	0	0	6231	507	18	2	64	2	GAD1	2	171675163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418453	171675163	71524210	2293	25795											
GAD1	2571	broad.mit.edu	37	chr2	171702114	171702114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtgcctaaactggtcCtcttcacctcagaacaggtg	8	10	10	13	1	3	1	2	0	1	1	4	1	4	1	3	3	3	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171702114C>A	ENST00000358196.3	+	8	1400	c.850C>A	c.(850-852)Ctc>Atc	p.L284I		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	284					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion|protein-pyridoxal-5-phosphate linkage	clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|plasma membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TAAACTGGTCCTCTTCACCTC	0.507													A	171702114	C	A	171702114	3	1	364	1	0	0	0	0	1	0	0	0	6231	681	24	4	917	4	GAD1	2	171702114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26951	171702114	71497259	2294	25796											
GORASP2	26003	broad.mit.edu	37	chr2	171822309	171822309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtcctaggtctgccacCtcttccttccatgcctcccc	3	15	5	18	0	2	0	0	0	2	0	6	0	6	0	8	1	2	0	8	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822309C>A	ENST00000234160.4	+	10	1843	c.1028C>A	c.(1027-1029)cCt>cAt	p.P343H	GORASP2_ENST00000452526.2_Missense_Mutation_p.P355H|GORASP2_ENST00000493692.1_3'UTR	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	343	Pro-rich.					Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						GGTCTGCCACCTCTTCCTTCC	0.498													A	171822309	C	A	171822309	3	1	364	1	0	0	0	0	1	0	0	0	6629	681	24	4	1066	4	GORASP2	2	171822309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120195	171822309	71377064	2295	25797											
GORASP2	26003	broad.mit.edu	37	chr2	171822497	171822497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactactgcaaaggcagacGctgcctcctcactcactgtg	10	8	8	15	1	2	1	2	0	0	1	3	1	3	1	2	1	4	3	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:171822497G>A	ENST00000234160.4	+	10	2031	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	GORASP2_ENST00000452526.2_Missense_Mutation_p.A418T	NM_001201428.1|NM_015530.4	NP_001188357.1|NP_056345.3	Q9H8Y8	GORS2_HUMAN	golgi reassembly stacking protein 2, 55kDa	406						Golgi membrane				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14						AAAGGCAGACGCTGCCTCCTC	0.637													A	171822497	G	A	171822497	3	1	364	1	0	0	0	0	1	0	0	0	6629	1087	38	1	1254	1	GORASP2	2	171822497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188	171822497	71376876	2296	25798											
CYBRD1	79901	broad.mit.edu	37	chr2	172379134	172379134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctgtcggtgatcttcGccctcgtctgggtcctccac	2	13	10	16	3	2	1	0	1	2	0	8	1	5	1	4	2	0	1	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172379134G>A	ENST00000321348.4	+	1	277	c.79G>A	c.(79-81)Gcc>Acc	p.A27T	CYBRD1_ENST00000375252.3_Missense_Mutation_p.A27T|CYBRD1_ENST00000409484.1_Intron|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	27	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						GGTGATCTTCGCCCTCGTCTG	0.642													A	172379134	G	A	172379134	3	1	364	1	0	0	0	0	1	0	0	0	4167	1087	38	1	81	1	CYBRD1	2	172379134	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	556637	172379134	70820239	2297	25799											
CYBRD1	79901	broad.mit.edu	37	chr2	172398115	172398115	+	Missense_Mutation	SNP	C	C	T																															ccatcatcgtctacagactgCcgtggacctggaaatgcagc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398115C>T	ENST00000321348.4	+	2	412	c.214C>T	c.(214-216)Ccg>Tcg	p.P72S	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14S|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						CTACAGACTGCCGTGGACCTG	0.438													T	172398115	C	T	172398115	3	4	364	1	0	0	0	0	1	0	0	0	4167	739	26	2	220	2	CYBRD1	2	172398115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18981	172398115	70801258	2298	25800	49	2									
CYBRD1	79901	broad.mit.edu	37	chr2	172398116	172398116	+	Missense_Mutation	SNP	C	C	T																															catcatcgtctacagactgcCgtggacctggaaatgcagca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172398116C>T	ENST00000321348.4	+	2	413	c.215C>T	c.(214-216)cCg>cTg	p.P72L	CYBRD1_ENST00000375252.3_Intron|CYBRD1_ENST00000409484.1_Missense_Mutation_p.P14L|CYBRD1_ENST00000468308.1_3'UTR	NM_024843.3	NP_079119.3	Q53TN4	CYBR1_HUMAN	cytochrome b reductase 1	72	Cytochrome b561.				cellular iron ion homeostasis|electron transport chain|transmembrane transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			endometrium(1)|kidney(1)|large_intestine(3)|liver(2)|lung(3)	10						TACAGACTGCCGTGGACCTGG	0.438													T	172398116	C	T	172398116	3	4	364	1	0	0	0	0	1	0	0	0	4167	652	23	1	221	1	CYBRD1	2	172398116	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	172398116	70801257	2299	25801	49	2									
HAT1	8520	broad.mit.edu	37	chr2	172809432	172809432	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttacaagggtctaaagatCctgttatactatattgctgg	11	14	10	6	0	1	1	0	0	1	1	2	1	2	1	1	3	3	3	1	3	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172809432C>A	ENST00000392584.1	+	0	199				HAT1_ENST00000264108.4_Silent_p.I74I|SLC25A12_ENST00000472748.1_Intron			O14929	HAT1_HUMAN	histone acetyltransferase 1						chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GTCTAAAGATCCTGTTATACT	0.338													A	172809432	C	A	172809432	1	1	364	1	0	0	0	0	0	0	0	0	7019	845	30	4		4	HAT1	2	172809432	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411316	172809432	70389941	2300	25802											
HAT1	8520	broad.mit.edu	37	chr2	172821917	172821917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggattttgcacaaacaCgaatgatttcctttctttac	11	15	5	10	1	1	1	0	1	1	0	2	3	2	2	2	1	3	1	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172821917C>T	ENST00000264108.4	+	5	404	c.368C>T	c.(367-369)aCg>aTg	p.T123M	HAT1_ENST00000392584.1_Missense_Mutation_p.T38M|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	123					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			TGCACAAACACGAATGATTTC	0.358													T	172821917	C	T	172821917	3	4	364	1	0	0	0	0	1	0	0	0	7019	536	19	1	386	1	HAT1	2	172821917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12485	172821917	70377456	2301	25803											
HAT1	8520	broad.mit.edu	37	chr2	172848174	172848174	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccagatgaaccaaataGaaataagcatgcaacatgaa	22	5	6	8	0	0	4	0	2	0	2	0	4	0	4	2	0	5	2	2	0	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172848174G>T	ENST00000264108.4	+	11	1204	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	HAT1_ENST00000392584.1_Nonsense_Mutation_p.E305*|SLC25A12_ENST00000472748.1_Intron	NM_003642.3	NP_003633.1	O14929	HAT1_HUMAN	histone acetyltransferase 1	390					chromatin silencing at telomere|DNA packaging	cytoplasm|nuclear matrix|nucleoplasm	histone acetyltransferase activity|protein binding			breast(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|prostate(1)	19			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GAACCAAATAGAAATAAGCAT	0.368													T	172848174	G	T	172848174	4	4	364	1	0	0	0	0	0	1	0	0	7019	943	33	4	1210	4	HAT1	2	172848174	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26257	172848174	70351199	2302	25804											
DLX2	1746	broad.mit.edu	37	chr2	172965582	172965582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagcacaaggtggagaagCgctggccccagggtgctgct	9	5	16	11	2	0	1	0	0	0	1	0	3	0	1	2	4	4	4	2	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:172965582C>T	ENST00000234198.4	-	3	1037	c.676G>A	c.(676-678)Gct>Act	p.A226T	DLX2_ENST00000466293.2_3'UTR	NM_004405.3	NP_004396.1	Q07687	DLX2_HUMAN	distal-less homeobox 2	226						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(117;0.216)			GGTGGAGAAGCGCTGGCCCCA	0.637													T	172965582	C	T	172965582	3	4	364	1	0	0	0	0	1	0	0	0	4610	768	27	1	314	1	DLX2	2	172965582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117408	172965582	70233791	2303	25805											
ITGA6	3655	broad.mit.edu	37	chr2	173332215	173332215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcctttctacagctgaccCcacgtcagaaagcaaggaag	12	7	9	13	1	2	2	1	1	1	1	3	3	3	3	3	1	3	3	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173332215C>T	ENST00000375221.2	+	3	517	c.314C>T	c.(313-315)cCc>cTc	p.P105L	ITGA6_ENST00000409532.1_5'UTR|ITGA6_ENST00000343713.4_Missense_Mutation_p.P105L|ITGA6_ENST00000409080.1_Missense_Mutation_p.P105L|ITGA6_ENST00000264107.7_Missense_Mutation_p.P105L|ITGA6_ENST00000264106.6_Missense_Mutation_p.P105L			P23229	ITA6_HUMAN	integrin, alpha 6	105					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACAGCTGACCCCACGTCAGAA	0.498													T	173332215	C	T	173332215	3	4	364	1	0	0	0	0	1	0	0	0	7938	623	22	2	324	2	ITGA6	2	173332215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	366633	173332215	69867158	2304	25806											
ITGA6	3655	broad.mit.edu	37	chr2	173337563	173337563	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagtttgtttataaaacacgGcctccccgggagcagcctga	10	9	10	12	2	0	1	0	1	0	0	1	2	1	2	4	2	3	3	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173337563G>A	ENST00000375221.2	+	6	1040	c.837G>A	c.(835-837)cgG>cgA	p.R279R	ITGA6_ENST00000409532.1_Silent_p.R121R|ITGA6_ENST00000343713.4_Silent_p.R235R|ITGA6_ENST00000409080.1_Intron|ITGA6_ENST00000264107.7_Intron|ITGA6_ENST00000264106.6_Silent_p.R279R			P23229	ITA6_HUMAN	integrin, alpha 6	279					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATAAAACACGGCCTCCCCGGG	0.468													A	173337563	G	A	173337563	2	1	364	1	0	0	0	0	0	0	0	1	7938	1218	42	2		2	ITGA6	2	173337563	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5348	173337563	69861810	2305	25807											
ITGA6	3655	broad.mit.edu	37	chr2	173339741	173339741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtatgtctacatgaaccaGcaaggcagatggaataatgt	14	10	11	6	0	1	2	0	1	1	1	1	3	1	3	1	2	3	3	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173339741G>T	ENST00000375221.2	+	8	1391	c.1188G>T	c.(1186-1188)caG>caT	p.Q396H	ITGA6_ENST00000409532.1_Missense_Mutation_p.Q238H|ITGA6_ENST00000343713.4_Missense_Mutation_p.Q352H|ITGA6_ENST00000409080.1_Missense_Mutation_p.Q357H|ITGA6_ENST00000264107.7_Missense_Mutation_p.Q357H|ITGA6_ENST00000264106.6_Missense_Mutation_p.Q396H			P23229	ITA6_HUMAN	integrin, alpha 6	396					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ACATGAACCAGCAAGGCAGAT	0.373													T	173339741	G	T	173339741	3	4	364	1	0	0	0	0	1	0	0	0	7938	962	34	4	1097	4	ITGA6	2	173339741	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2178	173339741	69859632	2306	25808											
ITGA6	3655	broad.mit.edu	37	chr2	173344431	173344431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacagaattgacctccGccagaaaacagcgtgtgggg	12	7	11	11	2	0	3	0	1	0	2	2	3	2	3	4	2	3	0	4	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173344431G>A	ENST00000375221.2	+	11	1771	c.1568G>A	c.(1567-1569)cGc>cAc	p.R523H	ITGA6_ENST00000409532.1_Missense_Mutation_p.R365H|ITGA6_ENST00000343713.4_Missense_Mutation_p.R479H|ITGA6_ENST00000409080.1_Missense_Mutation_p.R484H|ITGA6_ENST00000264107.7_Missense_Mutation_p.R484H|ITGA6_ENST00000264106.6_Missense_Mutation_p.R523H			P23229	ITA6_HUMAN	integrin, alpha 6	523					blood coagulation|cell adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter	integrin complex	protein binding|receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	44			OV - Ovarian serous cystadenocarcinoma(117;0.0979)			ATTGACCTCCGCCAGAAAACA	0.498													A	173344431	G	A	173344431	3	1	364	1	0	0	0	0	1	0	0	0	7938	1087	38	1	1489	1	ITGA6	2	173344431	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4690	173344431	69854942	2307	25809											
RAPGEF4	11069	broad.mit.edu	37	chr2	173825907	173825907	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgaaatgccattctctctCgagcacctcacatgataaga	13	10	6	12	2	3	2	1	1	2	1	5	4	3	2	2	0	3	1	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173825907C>T	ENST00000264111.6	+	8	833	c.646C>T	c.(646-648)Cga>Tga	p.R216*	RAPGEF4_ENST00000473043.1_3'UTR|RAPGEF4_ENST00000538974.1_Nonsense_Mutation_p.R46*|RAPGEF4_ENST00000535187.1_5'UTR|RAPGEF4_ENST00000397087.3_Nonsense_Mutation_p.R73*|RAPGEF4_ENST00000540783.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000409036.1_Nonsense_Mutation_p.R217*|RAPGEF4_ENST00000539331.1_Nonsense_Mutation_p.R64*|RAPGEF4_ENST00000397081.3_Nonsense_Mutation_p.R217*			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	217	DEP.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			CATTCTCTCTCGAGCACCTCA	0.433													T	173825907	C	T	173825907	4	4	364	1	0	0	0	0	0	1	0	0	13134	876	31	1	695	1	RAPGEF4	2	173825907	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481476	173825907	69373466	2308	25810											
RAPGEF4	11069	broad.mit.edu	37	chr2	173900869	173900869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggacccttcaaggaaccAcagggcctacaggctgacag	13	5	11	12	0	1	1	1	1	0	0	1	3	1	3	3	4	2	1	3	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:173900869A>G	ENST00000264111.6	+	28	2901	c.2714A>G	c.(2713-2715)cAc>cGc	p.H905R	RAPGEF4_ENST00000538974.1_Missense_Mutation_p.H735R|RAPGEF4_ENST00000535187.1_Missense_Mutation_p.H686R|RAPGEF4_ENST00000397087.3_Missense_Mutation_p.H762R|RAPGEF4_ENST00000540783.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000409036.1_Intron|RAPGEF4_ENST00000539331.1_Missense_Mutation_p.H753R|RAPGEF4_ENST00000397081.3_Missense_Mutation_p.H906R			Q8WZA2	RPGF4_HUMAN	Rap guanine nucleotide exchange factor (GEF) 4	906	Ras-GEF.				blood coagulation|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of insulin secretion|regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex|membrane fraction|plasma membrane	cAMP binding|cAMP-dependent protein kinase regulator activity|Ras GTPase binding|Ras guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(14)|lung(13)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	47			OV - Ovarian serous cystadenocarcinoma(117;0.194)			TCAAGGAACCACAGGGCCTAC	0.478													G	173900869	A	G	173900869	3	3	364	1	0	0	0	0	1	0	0	0	13134	159	6	3	2843	3	RAPGEF4	2	173900869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	74962	173900869	69298504	2309	25811											
ZAK	51776	broad.mit.edu	37	chr2	174131150	174131150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatcactcaattcttctcCtagaggaagatacagtggaa	14	12	7	8	0	4	2	2	0	2	2	5	4	4	4	1	2	1	0	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174131150C>A	ENST00000375213.3	+	20	2153	c.2075C>A	c.(2074-2076)cCt>cAt	p.P692H	MLTK_ENST00000409176.2_Missense_Mutation_p.P692H|MLK7-AS1_ENST00000423106.2_RNA|MLK7-AS1_ENST00000422703.1_RNA	NM_016653.2	NP_057737.2																					AATTCTTCTCCTAGAGGAAGA	0.453													A	174131150	C	A	174131150	3	1	364	1	0	0	0	0	1	0	0	0	17614	681	24	4	2534	4	ZAK	2	174131150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230281	174131150	69068223	2310	25812											
SP3	6670	broad.mit.edu	37	chr2	174777882	174777882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagttacaaacaaaagggcGttctccagaatgccaacgca	15	6	8	12	2	1	1	0	0	1	1	2	1	1	1	3	1	4	3	3	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174777882G>A	ENST00000310015.6	-	6	2475	c.1945C>T	c.(1945-1947)Cgc>Tgc	p.R649C	SP3_ENST00000455789.2_Missense_Mutation_p.R596C|SP3_ENST00000418194.2_Missense_Mutation_p.R581C	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	649					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			ACAAAAGGGCGTTCTCCAGAA	0.408													A	174777882	G	A	174777882	3	1	364	1	0	0	0	0	1	0	0	0	15059	1145	40	1	408	1	SP3	2	174777882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	646732	174777882	68421491	2311	25813											
SP3	6670	broad.mit.edu	37	chr2	174819870	174819870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaagttacctgtccagaaGgggtcactgtctgtgcctga	8	10	12	11	0	2	2	1	1	1	1	3	2	3	2	4	2	2	1	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:174819870G>T	ENST00000310015.6	-	4	1900	c.1370C>A	c.(1369-1371)cCt>cAt	p.P457H	SP3_ENST00000455789.2_Missense_Mutation_p.P404H|SP3_ENST00000418194.2_Missense_Mutation_p.P389H	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	457	Transactivation domain (Gln-rich).				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			CTGTCCAGAAGGGGTCACTGT	0.433													T	174819870	G	T	174819870	3	4	364	1	0	0	0	0	1	0	0	0	15059	1000	35	4	991	4	SP3	2	174819870	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41988	174819870	68379503	2312	25814											
GPR155	151556	broad.mit.edu	37	chr2	175301093	175301093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccgacttcaattagccaGctcaccaggtcacagccaca	12	6	8	15	1	3	0	3	0	0	0	3	1	3	0	4	2	3	1	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301093G>T	ENST00000392552.2	-	16	2602	c.2364C>A	c.(2362-2364)agC>agA	p.S788R	GPR155_ENST00000295500.4_Missense_Mutation_p.S788R|GPR155_ENST00000459996.1_5'UTR|GPR155_ENST00000392551.2_Missense_Mutation_p.S788R	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	788	DEP.				intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						CAATTAGCCAGCTCACCAGGT	0.488													T	175301093	G	T	175301093	3	4	364	1	0	0	0	0	1	0	0	0	6714	962	34	4	252	4	GPR155	2	175301093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	481223	175301093	67898280	2313	25815											
GPR155	151556	broad.mit.edu	37	chr2	175301145	175301145	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtctttgcaccacacCtgtgtcaaaggaatgattca	13	10	8	10	0	3	2	2	1	1	1	3	3	3	3	2	1	1	1	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175301145C>A	ENST00000392552.2	-	16	2551		c.e16-1		GPR155_ENST00000295500.4_Splice_Site|GPR155_ENST00000459996.1_Splice_Site|GPR155_ENST00000392551.2_Splice_Site	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155						intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						TGCACCACACCTGTGTCAAAG	0.458													A	175301145	C	A	175301145	5	1	364	1	0	0	0	0	0	0	1	0	6714	695	24	4	304	4	GPR155	2	175301145	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	175301145	67898228	2314	25816											
GPR155	151556	broad.mit.edu	37	chr2	175346648	175346648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcttggtcatattgactgCaatggttaagttctctgcag	9	15	10	7	0	3	1	1	1	2	0	4	1	3	1	0	2	2	4	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175346648C>T	ENST00000392552.2	-	2	275	c.37G>A	c.(37-39)Gca>Aca	p.A13T	GPR155_ENST00000295500.4_Missense_Mutation_p.A13T|GPR155_ENST00000392551.2_Missense_Mutation_p.A13T	NM_001267051.1|NM_152529.6	NP_001253980.1|NP_689742.4	Q7Z3F1	GP155_HUMAN	G protein-coupled receptor 155	13					intracellular signal transduction|transmembrane transport	integral to membrane				breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	26						ATATTGACTGCAATGGTTAAG	0.408													T	175346648	C	T	175346648	3	4	364	1	0	0	0	0	1	0	0	0	6714	710	25	2	2635	2	GPR155	2	175346648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45503	175346648	67852725	2315	25817											
WIPF1	7456	broad.mit.edu	37	chr2	175431873	175431873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctctggaggtggcaaatCggaaatcggatggaagtaga	12	8	16	5	2	1	1	0	0	1	1	3	5	1	5	0	7	0	3	0	7	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175431873C>T	ENST00000392547.2	-	7	1480	c.1381G>A	c.(1381-1383)Gat>Aat	p.D461N	WIPF1_ENST00000359761.3_Missense_Mutation_p.D461N|WIPF1_ENST00000392546.2_Missense_Mutation_p.D461N|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000467149.1_5'UTR|WIPF1_ENST00000272746.5_Missense_Mutation_p.D461N|WIPF1_ENST00000409891.1_Missense_Mutation_p.D461N|AC018890.6_ENST00000442996.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	461					actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	p.D461N(1)		NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						GGTGGCAAATCGGAAATCGGA	0.443													T	175431873	C	T	175431873	3	4	364	1	0	0	0	0	1	0	0	0	17469	884	31	1	138	1	WIPF1	2	175431873	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85225	175431873	67767500	2316	25818											
WIPF1	7456	broad.mit.edu	37	chr2	175440048	175440048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgccaccacctcctccgCcaaatccgccgcctccacca	7	5	4	25	4	0	0	0	0	0	0	5	0	5	0	12	0	0	0	12	0	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175440048C>A	ENST00000392547.2	-	4	341	c.242G>T	c.(241-243)gGc>gTc	p.G81V	AC010894.5_ENST00000454203.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.G81V|WIPF1_ENST00000392546.2_Missense_Mutation_p.G81V|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000272746.5_Missense_Mutation_p.G81V|WIPF1_ENST00000409891.1_Missense_Mutation_p.G81V|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000410117.1_Missense_Mutation_p.G81V|WIPF1_ENST00000409415.3_Missense_Mutation_p.G81V	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	81	Gly-rich.				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						acctcctccgccaaatccgcc	0.617													A	175440048	C	A	175440048	3	1	364	1	0	0	0	0	1	0	0	0	17469	739	26	4	1289	4	WIPF1	2	175440048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8175	175440048	67759325	2317	25819											
CHRNA1	1134	broad.mit.edu	37	chr2	175613338	175613338	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtctgacttcatggtCtctgcgatgtacttgatgcc	5	15	10	11	1	3	2	1	2	2	0	5	3	4	2	2	2	3	1	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175613338C>A	ENST00000348749.5	-	8	1289	c.1212G>T	c.(1210-1212)gaG>gaT	p.E404D	CHRNA1_ENST00000261007.5_Missense_Mutation_p.E429D|CHRNA1_ENST00000409219.1_Intron|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Missense_Mutation_p.E322D	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	429					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						ACTTCATGGTCTCTGCGATGT	0.502											OREG0015079	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	175613338	C	A	175613338	3	1	364	1	0	0	0	0	1	0	0	0	3411	912	32	4	169	4	CHRNA1	2	175613338	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173290	175613338	67586035	2318	25820											
CHRNA1	1134	broad.mit.edu	37	chr2	175618430	175618430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgatcacccactccccGctctccatgaagttgctcag	7	11	6	17	1	3	2	2	2	1	0	6	2	5	2	5	0	1	3	5	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:175618430G>A	ENST00000348749.5	-	6	656	c.579C>T	c.(577-579)agC>agT	p.S193S	CHRNA1_ENST00000409323.1_Silent_p.S193S|CHRNA1_ENST00000261007.5_Silent_p.S218S|CHRNA1_ENST00000409219.1_Silent_p.S193S|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000409542.1_Silent_p.S111S	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	218					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CCCACTCCCCGCTCTCCATGA	0.582													A	175618430	G	A	175618430	2	1	364	1	0	0	0	0	0	0	0	1	3411	1078	38	1		1	CHRNA1	2	175618430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5092	175618430	67580943	2319	25821											
HOXD12	3238	broad.mit.edu	37	chr2	176964817	176964817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaaagacggacccgaagaGcaggctaagttctatgcgcc	12	5	12	12	3	1	2	0	0	1	2	1	4	1	3	3	2	2	3	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176964817G>A	ENST00000406506.2	+	1	360	c.288G>A	c.(286-288)gaG>gaA	p.E96E	HOXD12_ENST00000404162.2_Silent_p.E96E			P35452	HXD12_HUMAN	homeobox D12	96						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(7)|ovary(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.18)	Colorectal(32;0.0521)|READ - Rectum adenocarcinoma(9;0.0678)		GACCCGAAGAGCAGGCTAAGT	0.706													A	176964817	G	A	176964817	2	1	364	1	0	0	0	0	0	0	0	1	7376	962	34	2		2	HOXD12	2	176964817	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1346387	176964817	66234556	2320	25822											
HOXD8	3234	broad.mit.edu	37	chr2	176996304	176996304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaaaaaggaagcccaagaGctggaggaagacagagccga	18	1	14	8	2	0	3	0	0	0	3	0	8	0	6	2	3	3	1	2	3	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:176996304G>T	ENST00000313173.4	+	2	1464	c.837G>T	c.(835-837)gaG>gaT	p.E279D	HOXD8_ENST00000450510.2_Missense_Mutation_p.E278D|HOXD8_ENST00000429017.1_Missense_Mutation_p.E95D|HOXD8_ENST00000544999.1_Missense_Mutation_p.E278D|HOXD8_ENST00000548663.1_Missense_Mutation_p.E175D|HOXD-AS2_ENST00000440016.2_RNA	NM_001199746.1|NM_019558.3	NP_001186675.1|NP_062458.1	P13378	HXD8_HUMAN	homeobox D8	279					anterior/posterior axis specification, embryo	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(5)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0207)|Epithelial(96;0.195)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		AAGCCCAAGAGCTGGAGGAAG	0.428													T	176996304	G	T	176996304	3	4	364	1	0	0	0	0	1	0	0	0	7380	962	34	4	843	4	HOXD8	2	176996304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31487	176996304	66203069	2321	25823											
HOXD1	3231	broad.mit.edu	37	chr2	177054165	177054165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagtggatgaaagtgaagagGaatgcctctaagaaaggtaa	17	7	14	3	0	1	4	0	2	1	2	1	7	1	6	1	3	1	1	1	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:177054165G>A	ENST00000331462.4	+	1	859	c.636G>A	c.(634-636)agG>agA	p.R212R		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	212						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		AAGTGAAGAGGAATGCCTCTA	0.662													A	177054165	G	A	177054165	2	1	364	1	0	0	0	0	0	0	0	1	7373	1165	41	2		2	HOXD1	2	177054165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57861	177054165	66145208	2322	25824											
AGPS	8540	broad.mit.edu	37	chr2	178326678	178326678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccctggagttcagtactGtaggaggatgggtatctact	9	13	12	7	0	2	0	1	0	1	0	3	3	3	3	1	4	2	4	1	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178326678G>A	ENST00000264167.4	+	9	1074	c.928G>A	c.(928-930)Gta>Ata	p.V310I	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	310	FAD-binding PCMH-type.				ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			GTTCAGTACTGTAGGAGGATG	0.358													A	178326678	G	A	178326678	3	1	364	1	0	0	0	0	1	0	0	0	394	1377	48	2	962	2	AGPS	2	178326678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1272513	178326678	64872695	2323	25825											
TTC30B	150737	broad.mit.edu	37	chr2	178415540	178415540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcaaagcttttaactgcCtagactcatatgtgactgta	14	13	6	8	0	2	2	2	1	0	1	2	2	2	2	1	0	3	2	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178415540C>A	ENST00000408939.3	-	1	2202	c.1952G>T	c.(1951-1953)aGg>aTg	p.R651M		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			TTTTAACTGCCTAGACTCATA	0.358													A	178415540	C	A	178415540	3	1	364	1	0	0	0	0	1	0	0	0	16801	681	24	4	49	4	TTC30B	2	178415540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88862	178415540	64783833	2324	25826											
TTC30B	150737	broad.mit.edu	37	chr2	178416646	178416646	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacagggtccaactcttcCtctgccctgggtggcatgtc	5	11	11	14	0	3	0	1	0	2	0	6	0	5	0	3	3	2	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178416646C>A	ENST00000408939.3	-	1	1096	c.846G>T	c.(844-846)gaG>gaT	p.E282D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CCAACTCTTCCTCTGCCCTGG	0.498													A	178416646	C	A	178416646	3	1	364	1	0	0	0	0	1	0	0	0	16801	680	24	4	1155	4	TTC30B	2	178416646	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1106	178416646	64782727	2325	25827											
PDE11A	50940	broad.mit.edu	37	chr2	178936974	178936974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccacctctgcaggtgCtgtgagccaagctgctggta	6	10	13	12	0	1	1	0	1	1	0	1	1	1	1	3	2	7	6	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178936974C>A	ENST00000286063.6	-	1	508	c.191G>T	c.(190-192)aGc>aTc	p.S64I	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCTGCAGGTGCTGTGAGCCAA	0.627									Primary Pigmented Nodular Adrenocortical Disease, Familial				A	178936974	C	A	178936974	3	1	364	1	0	0	0	0	1	0	0	0	11707	797	28	4	2690	4	PDE11A	2	178936974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520328	178936974	64262399	2326	25828											
PDE11A	50940	broad.mit.edu	37	chr2	178969154	178969154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtgtggcactgagcaCatttctgaataaaggtcttc	10	12	9	10	0	2	2	0	2	2	0	3	2	2	2	1	2	1	2	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:178969154C>T	ENST00000358450.4	-	2	135	c.37G>A	c.(37-39)Gtg>Atg	p.V13M		NM_001077197.1	NP_001070665.1	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A	0					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			GCACTGAGCACATTTCTGAAT	0.398									Primary Pigmented Nodular Adrenocortical Disease, Familial				T	178969154	C	T	178969154	3	4	364	1	0	0	0	0	1	0	0	0	11707	478	17	2	3010	2	PDE11A	2	178969154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32180	178969154	64230219	2327	25829											
OSBPL6	114880	broad.mit.edu	37	chr2	179238699	179238699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtcagagtctgtttCtgagttctttgatgcccaag	7	15	9	10	0	4	3	1	2	3	1	5	3	5	3	2	0	1	2	2	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179238699C>A	ENST00000190611.4	+	15	1854	c.1478C>A	c.(1477-1479)tCt>tAt	p.S493Y	OSBPL6_ENST00000409045.3_Missense_Mutation_p.S462Y|OSBPL6_ENST00000315022.2_Missense_Mutation_p.S497Y|OSBPL6_ENST00000357080.4_Missense_Mutation_p.S426Y|OSBPL6_ENST00000409631.1_Missense_Mutation_p.S457Y|OSBPL6_ENST00000392505.2_Missense_Mutation_p.S518Y|OSBPL6_ENST00000359685.3_Missense_Mutation_p.S457Y	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	493					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			GAGTCTGTTTCTGAGTTCTTT	0.498													A	179238699	C	A	179238699	3	1	364	1	0	0	0	0	1	0	0	0	11357	913	32	4	1650	4	OSBPL6	2	179238699	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269545	179238699	63960674	2328	25830											
OSBPL6	114880	broad.mit.edu	37	chr2	179247887	179247887	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaagacctgtctaaagtCtctatgcctgtggagctaaa	12	11	10	8	0	2	1	0	0	2	1	3	2	2	2	2	2	2	2	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179247887C>A	ENST00000190611.4	+	17	2134	c.1758C>A	c.(1756-1758)gtC>gtA	p.V586V	OSBPL6_ENST00000409045.3_Silent_p.V555V|OSBPL6_ENST00000315022.2_Silent_p.V590V|OSBPL6_ENST00000409631.1_Silent_p.V550V|OSBPL6_ENST00000392505.2_Silent_p.V611V|OSBPL6_ENST00000359685.3_Silent_p.V550V	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	586					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			TGTCTAAAGTCTCTATGCCTG	0.507													A	179247887	C	A	179247887	2	1	364	1	0	0	0	0	0	0	0	1	11357	900	32	4		4	OSBPL6	2	179247887	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9188	179247887	63951486	2329	25831											
PRKRA	8575	broad.mit.edu	37	chr2	179308017	179308017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccataaatgactctagcCtgcaaattgtagtatattct	12	16	5	8	0	2	1	0	1	2	0	3	1	3	1	2	0	2	3	2	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179308017C>T	ENST00000325748.4	-	5	691	c.491G>A	c.(490-492)aGg>aAg	p.R164K	PRKRA_ENST00000487082.1_Missense_Mutation_p.R139K|PRKRA_ENST00000432031.2_Missense_Mutation_p.R153K|PRKRA_ENST00000438687.3_Missense_Mutation_p.R51K	NM_003690.4	NP_003681.1	O75569	PRKRA_HUMAN	protein kinase, interferon-inducible double stranded RNA dependent activator	164	DRBM 2.|Sufficient for self-association and interaction with TARBP2.				immune response|negative regulation of cell proliferation|production of siRNA involved in RNA interference|response to virus	perinuclear region of cytoplasm	double-stranded RNA binding|enzyme activator activity|protein homodimerization activity			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|skin(2)	19			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.00634)|all cancers(119;0.0265)			TGACTCTAGCCTGCAAATTGT	0.363													T	179308017	C	T	179308017	3	4	364	1	0	0	0	0	1	0	0	0	12610	681	24	2	466	2	PRKRA	2	179308017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60130	179308017	63891356	2330	25832											
DFNB59	494513	broad.mit.edu	37	chr2	179325155	179325155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgctgtacaggttgagaAatatcctatttgaaagaagt	14	12	9	6	0	0	3	0	2	0	2	1	4	1	3	1	1	2	3	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179325155A>G	ENST00000409117.3	+	6	1104	c.748A>G	c.(748-750)Aat>Gat	p.N250D	DFNB59_ENST00000375129.4_Missense_Mutation_p.N250D	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	250					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			CAGGTTGAGAAATATCCTATT	0.343													G	179325155	A	G	179325155	3	3	364	1	0	0	0	0	1	0	0	0	4495	14	1	3	766	3	DFNB59	2	179325155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17138	179325155	63874218	2331	25833											
TTN	7273	broad.mit.edu	37	chr2	179396215	179396215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggacctcttcatctctgcGttgggaagcataggtggtat	7	12	14	8	1	3	0	1	0	2	0	4	2	3	2	1	5	2	3	1	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179396215G>A	ENST00000589042.1	-	358	105351	c.105127C>T	c.(105127-105129)Cgc>Tgc	p.R35043C	TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R26170C|TTN-AS1_ENST00000604571.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R33402C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R26103C|TTN_ENST00000460472.2_Missense_Mutation_p.R25978C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R32475C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33402							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCATCTCTGCGTTGGGAAGCA	0.488													A	179396215	G	A	179396215	3	1	364	1	0	0	0	0	1	0	0	0	16837	1145	40	1	2872	1	TTN	2	179396215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71060	179396215	63803158	2332	25834											
TTN	7273	broad.mit.edu	37	chr2	179403356	179403356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccctgaattcatactcaGtagcttccagcaaacctcct	13	10	4	14	0	2	1	2	1	0	0	4	1	4	1	4	0	5	3	4	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403356G>T	ENST00000589042.1	-	354	99424	c.99200C>A	c.(99199-99201)aCt>aAt	p.T33067N	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T24194N|TTN_ENST00000591111.1_Missense_Mutation_p.T31426N|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T24127N|TTN_ENST00000460472.2_Missense_Mutation_p.T24002N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T30499N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31426							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCATACTCAGTAGCTTCCAG	0.433													T	179403356	G	T	179403356	3	4	364	1	0	0	0	0	1	0	0	0	16837	1029	36	4	8815	4	TTN	2	179403356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7141	179403356	63796017	2333	25835											
TTN	7273	broad.mit.edu	37	chr2	179403465	179403465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atattcaacccagtatccaaGaatttctttaccaccatcac	14	12	2	13	0	3	1	2	0	1	1	4	1	4	1	4	0	2	1	4	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179403465G>A	ENST00000589042.1	-	354	99315	c.99091C>T	c.(99091-99093)Ctt>Ttt	p.L33031F	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L24158F|TTN_ENST00000591111.1_Missense_Mutation_p.L31390F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L24091F|TTN_ENST00000460472.2_Missense_Mutation_p.L23966F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L30463F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	31390							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTATCCAAGAATTTCTTTA	0.408													A	179403465	G	A	179403465	3	1	364	1	0	0	0	0	1	0	0	0	16837	942	33	2	8924	2	TTN	2	179403465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109	179403465	63795908	2334	25836											
TTN	7273	broad.mit.edu	37	chr2	179409203	179409203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgtttggtggtatccacaActcttggagcagaaggtggt	8	13	14	6	0	1	1	0	0	1	1	2	2	2	2	1	5	2	3	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179409203A>G	ENST00000589042.1	-	345	95977	c.95753T>C	c.(95752-95754)gTt>gCt	p.V31918A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V23045A|TTN_ENST00000591111.1_Missense_Mutation_p.V30277A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V22978A|TTN_ENST00000460472.2_Missense_Mutation_p.V22853A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V29350A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30277	Ig-like 141.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTATCCACAACTCTTGGAGC	0.403													G	179409203	A	G	179409203	3	3	364	1	0	0	0	0	1	0	0	0	16837	43	2	3	12298	3	TTN	2	179409203	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5738	179409203	63790170	2335	25837											
TTN	7273	broad.mit.edu	37	chr2	179413090	179413090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttactgcagaaacacggAaatagtacggaacaccttcg	15	8	8	10	3	0	1	0	0	0	1	1	3	0	3	1	2	5	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179413090A>G	ENST00000589042.1	-	339	93487	c.93263T>C	c.(93262-93264)tTc>tCc	p.F31088S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F22215S|TTN_ENST00000591111.1_Missense_Mutation_p.F29447S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F22148S|TTN_ENST00000460472.2_Missense_Mutation_p.F22023S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F28520S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29447	Ig-like 139.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAAACACGGAAATAGTACGG	0.478													G	179413090	A	G	179413090	3	3	364	1	0	0	0	0	1	0	0	0	16837	246	9	3	14812	3	TTN	2	179413090	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3887	179413090	63786283	2336	25838											
TTN	7273	broad.mit.edu	37	chr2	179414088	179414088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcttttctcttctttcaagGatatactgttgaatttcact	8	21	4	8	0	5	1	2	1	3	0	6	2	5	2	0	1	1	1	0	1	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179414088G>A	ENST00000589042.1	-	339	92489	c.92265C>T	c.(92263-92265)atC>atT	p.I30755I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I21882I|TTN_ENST00000591111.1_Silent_p.I29114I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000359218.5_Silent_p.I21815I|TTN_ENST00000460472.2_Silent_p.I21690I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I28187I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29114							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTCAAGGATATACTGTT	0.443													A	179414088	G	A	179414088	2	1	364	1	0	0	0	0	0	0	0	1	16837	1164	41	2		2	TTN	2	179414088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	998	179414088	63785285	2337	25839											
TTN	7273	broad.mit.edu	37	chr2	179418746	179418746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtcactgttttctgtgaGtcctgttactttttgtctgg	5	20	9	7	0	3	1	1	1	2	0	4	1	4	1	1	1	1	2	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179418746G>A	ENST00000589042.1	-	333	89316	c.89092C>T	c.(89092-89094)Ctc>Ttc	p.L29698F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20825F|TTN_ENST00000591111.1_Missense_Mutation_p.L28057F|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20758F|TTN_ENST00000460472.2_Missense_Mutation_p.L20633F|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L27130F|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28057	Fibronectin type-III 116.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTCTGTGAGTCCTGTTACT	0.408													A	179418746	G	A	179418746	3	1	364	1	0	0	0	0	1	0	0	0	16837	1029	36	2	19007	2	TTN	2	179418746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4658	179418746	63780627	2338	25840											
TTN	7273	broad.mit.edu	37	chr2	179419595	179419595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtattcagcacctaccaaGgatctgtactctgatggtgg	9	12	10	10	0	3	1	1	1	2	0	3	2	3	2	2	3	3	3	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179419595G>T	ENST00000589042.1	-	331	88815	c.88591C>A	c.(88591-88593)Ctt>Att	p.L29531I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20658I|TTN_ENST00000591111.1_Missense_Mutation_p.L27890I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L20591I|TTN_ENST00000460472.2_Missense_Mutation_p.L20466I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26963I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27890	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCTACCAAGGATCTGTACT	0.398													T	179419595	G	T	179419595	3	4	364	1	0	0	0	0	1	0	0	0	16837	1000	35	4	19516	4	TTN	2	179419595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	849	179419595	63779778	2339	25841											
TTN	7273	broad.mit.edu	37	chr2	179424591	179424591	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctcatttcactgtcAatatcaaataaaggttcttc	11	16	4	10	0	6	0	4	0	2	0	8	0	7	0	1	1	0	1	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179424591A>G	ENST00000589042.1	-	326	86492	c.86268T>C	c.(86266-86268)atT>atC	p.I28756I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.I19883I|TTN_ENST00000591111.1_Silent_p.I27115I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.I19816I|TTN_ENST00000460472.2_Silent_p.I19691I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.I26188I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27115	Fibronectin type-III 109.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCACTGTCAATATCAAATA	0.438													G	179424591	A	G	179424591	2	3	364	1	0	0	0	0	0	0	0	1	16837	126	5	3		3	TTN	2	179424591	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4996	179424591	63774782	2340	25842											
TTN	7273	broad.mit.edu	37	chr2	179427755	179427755	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaacttcgggttctggtcGacctttgatagtgacaaata	10	15	9	7	2	1	2	0	2	1	0	3	3	1	2	1	2	1	1	1	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179427755G>A	ENST00000589042.1	-	326	83328	c.83104C>T	c.(83104-83106)Cga>Tga	p.R27702*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18829*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R26061*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18762*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R18637*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R25134*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26061	Fibronectin type-III 102.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R18762*(1)|p.R25132*(1)|p.R18637*(1)|p.R18829*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTCTGGTCGACCTTTGATA	0.453													A	179427755	G	A	179427755	4	1	364	1	0	0	0	0	0	1	0	0	16837	1066	37	1	25023	1	TTN	2	179427755	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3164	179427755	63771618	2341	25843											
TTN	7273	broad.mit.edu	37	chr2	179428603	179428603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtacctcagttgaaaccTgggtccaagagagtcggctt	9	10	11	11	1	1	2	1	1	0	1	3	3	2	2	4	2	2	3	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179428603T>C	ENST00000589042.1	-	326	82480	c.82256A>G	c.(82255-82257)cAg>cGg	p.Q27419R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.Q18546R|TTN_ENST00000591111.1_Missense_Mutation_p.Q25778R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.Q18479R|TTN_ENST00000460472.2_Missense_Mutation_p.Q18354R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Q24851R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25778							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTGAAACCTGGGTCCAAGA	0.413													C	179428603	T	C	179428603	3	2	364	1	0	0	0	0	1	0	0	0	16837	1580	55	3	25871	3	TTN	2	179428603	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	848	179428603	63770770	2342	25844											
TTN	7273	broad.mit.edu	37	chr2	179429822	179429822	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggtggtggttgtatctcGcttctctacaatgtagttgc	6	16	12	7	1	2	0	0	0	2	0	4	0	2	0	0	3	2	5	0	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179429822G>A	ENST00000589042.1	-	326	81261	c.81037C>T	c.(81037-81039)Cga>Tga	p.R27013*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R18140*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R25372*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R18073*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R17948*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R24445*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25372	Fibronectin type-III 97.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTATCTCGCTTCTCTACA	0.428													A	179429822	G	A	179429822	4	1	364	1	0	0	0	0	0	1	0	0	16837	1095	38	1	27090	1	TTN	2	179429822	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1219	179429822	63769551	2343	25845											
TTN	7273	broad.mit.edu	37	chr2	179433764	179433764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatttttccaggaggttgtgGcacttctgcaaccttaattg	8	16	9	8	0	1	0	0	0	1	0	2	1	2	1	2	3	2	3	2	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179433764G>A	ENST00000589042.1	-	326	77319	c.77095C>T	c.(77095-77097)Cca>Tca	p.P25699S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P16826S|TTN_ENST00000591111.1_Missense_Mutation_p.P24058S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P16759S|TTN_ENST00000460472.2_Missense_Mutation_p.P16634S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P23131S|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24058	Ig-like 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGAGGTTGTGGCACTTCTGCA	0.438													A	179433764	G	A	179433764	3	1	364	1	0	0	0	0	1	0	0	0	16837	1203	42	2	31032	2	TTN	2	179433764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3942	179433764	63765609	2344	25846											
TTN	7273	broad.mit.edu	37	chr2	179435367	179435367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgagactggtggcaaaGtcggtgctctttatttctaa	10	13	10	8	1	2	1	0	1	2	1	3	2	2	1	0	3	1	2	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179435367G>A	ENST00000589042.1	-	326	75716	c.75492C>T	c.(75490-75492)gaC>gaT	p.D25164D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D16291D|TTN_ENST00000591111.1_Silent_p.D23523D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.D16224D|TTN_ENST00000460472.2_Silent_p.D16099D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.D22596D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23523	Fibronectin type-III 83.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTGGCAAAGTCGGTGCTCT	0.408													A	179435367	G	A	179435367	2	1	364	1	0	0	0	0	0	0	0	1	16837	1020	36	2		2	TTN	2	179435367	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1603	179435367	63764006	2345	25847											
TTN	7273	broad.mit.edu	37	chr2	179436581	179436581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctctgcatttactctagTtgtctgcttcagtggtacat	6	17	8	10	0	4	0	1	0	3	0	5	0	4	0	0	1	4	5	0	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179436581T>C	ENST00000589042.1	-	326	74502	c.74278A>G	c.(74278-74280)Act>Gct	p.T24760A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T15887A|TTN_ENST00000591111.1_Missense_Mutation_p.T23119A|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T15820A|TTN_ENST00000460472.2_Missense_Mutation_p.T15695A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T22192A|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23119	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTACTCTAGTTGTCTGCTTC	0.438													C	179436581	T	C	179436581	3	2	364	1	0	0	0	0	1	0	0	0	16837	1725	60	3	33849	3	TTN	2	179436581	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1214	179436581	63762792	2346	25848											
TTN	7273	broad.mit.edu	37	chr2	179438273	179438273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatttacagccatgacacGgaatatgtattcattgcctt	11	16	6	8	1	1	1	1	1	0	0	1	2	1	2	2	1	3	1	2	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179438273G>A	ENST00000589042.1	-	326	72810	c.72586C>T	c.(72586-72588)Cgt>Tgt	p.R24196C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R15323C|TTN_ENST00000591111.1_Missense_Mutation_p.R22555C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R15256C|TTN_ENST00000460472.2_Missense_Mutation_p.R15131C|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R21628C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22555	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCATGACACGGAATATGTAT	0.458													A	179438273	G	A	179438273	3	1	364	1	0	0	0	0	1	0	0	0	16837	1116	39	1	35541	1	TTN	2	179438273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1692	179438273	63761100	2347	25849											
TTN	7273	broad.mit.edu	37	chr2	179446359	179446359	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcaaagcgggttttctgTagattctgtggtaagttgca	9	14	11	7	1	3	1	1	0	2	1	3	1	3	1	1	2	2	5	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446359T>C	ENST00000589042.1	-	316	66860	c.66636A>G	c.(66634-66636)ctA>ctG	p.L22212L	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.L13339L|TTN_ENST00000591111.1_Silent_p.L20571L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.L13272L|TTN_ENST00000460472.2_Silent_p.L13147L|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.L19644L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20571	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGTTTTCTGTAGATTCTGTG	0.478													C	179446359	T	C	179446359	2	2	364	1	0	0	0	0	0	0	0	1	16837	1625	57	3		3	TTN	2	179446359	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8086	179446359	63753014	2348	25850											
TTN	7273	broad.mit.edu	37	chr2	179446770	179446770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgttctttctataataGgttttctgttgaccttagtc	8	21	6	6	0	3	1	0	1	3	0	4	1	3	1	1	1	0	3	1	1	5	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179446770G>T	ENST00000589042.1	-	315	66550	c.66326C>A	c.(66325-66327)cCt>cAt	p.P22109H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P13236H|TTN_ENST00000591111.1_Missense_Mutation_p.P20468H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P13169H|TTN_ENST00000460472.2_Missense_Mutation_p.P13044H|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P19541H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20468	Fibronectin type-III 60.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P19539H(1)|p.P13236H(1)|p.P13236N(1)|p.P13169N(1)|p.P19541N(1)|p.P19541H(1)|p.P13044N(1)|p.P19539N(1)|p.P13044H(1)|p.P13169H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTATAATAGGTTTTCTGTT	0.448													T	179446770	G	T	179446770	3	4	364	1	0	0	0	0	1	0	0	0	16837	1000	35	4	41845	4	TTN	2	179446770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411	179446770	63752603	2349	25851											
TTN	7273	broad.mit.edu	37	chr2	179452805	179452805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagccttcatcaggagacGcatctgctatttttggtctc	7	14	8	12	1	4	1	2	0	2	1	6	2	5	1	2	2	2	2	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179452805G>A	ENST00000589042.1	-	305	63553	c.63329C>T	c.(63328-63330)gCg>gTg	p.A21110V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12237V|TTN_ENST00000591111.1_Missense_Mutation_p.A19469V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12170V|TTN_ENST00000460472.2_Missense_Mutation_p.A12045V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A18542V|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19469	Fibronectin type-III 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCAGGAGACGCATCTGCTAT	0.453													A	179452805	G	A	179452805	3	1	364	1	0	0	0	0	1	0	0	0	16837	1087	38	1	44882	1	TTN	2	179452805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6035	179452805	63746568	2350	25852											
TTN	7273	broad.mit.edu	37	chr2	179453593	179453593	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggttttggctatgactggTttactttctgttggaggccc	4	18	12	7	0	1	1	0	1	1	0	1	2	1	2	1	5	1	4	1	5	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179453593T>C	ENST00000589042.1	-	304	63083	c.62859A>G	c.(62857-62859)aaA>aaG	p.K20953K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.K12080K|TTN_ENST00000591111.1_Silent_p.K19312K|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.K12013K|TTN_ENST00000460472.2_Silent_p.K11888K|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Silent_p.K18385K|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19312	Ig-like 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTATGACTGGTTTACTTTCTG	0.428													C	179453593	T	C	179453593	2	2	364	1	0	0	0	0	0	0	0	1	16837	1722	60	3		3	TTN	2	179453593	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	788	179453593	63745780	2351	25853											
TTN	7273	broad.mit.edu	37	chr2	179455593	179455593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtccaagacactgttgctgCattttcagtaatgtcagtaa	11	13	9	8	0	2	1	2	0	0	1	3	1	3	1	1	1	2	5	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179455593C>T	ENST00000589042.1	-	304	61083	c.60859G>A	c.(60859-60861)Gca>Aca	p.A20287T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A11414T|TTN_ENST00000591111.1_Missense_Mutation_p.A18646T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A11347T|TTN_ENST00000460472.2_Missense_Mutation_p.A11222T|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A17719T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18646	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTTGCTGCATTTTCAGTA	0.473													T	179455593	C	T	179455593	3	4	364	1	0	0	0	0	1	0	0	0	16837	710	25	2	47356	2	TTN	2	179455593	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2000	179455593	63743780	2352	25854											
TTN	7273	broad.mit.edu	37	chr2	179456584	179456584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcagtcttgtcaacatCtacatggtgcaggtccttgg	8	13	10	10	0	4	0	2	0	2	0	5	1	5	0	1	3	3	1	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179456584C>A	ENST00000589042.1	-	303	60186	c.59962G>T	c.(59962-59964)Gat>Tat	p.D19988Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D11115Y|TTN_ENST00000591111.1_Missense_Mutation_p.D18347Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D11048Y|TTN_ENST00000460472.2_Missense_Mutation_p.D10923Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D17420Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18347	Fibronectin type-III 44.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAACATCTACATGGTGC	0.413													A	179456584	C	A	179456584	3	1	364	1	0	0	0	0	1	0	0	0	16837	913	32	4	48257	4	TTN	2	179456584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	991	179456584	63742789	2353	25855											
TTN	7273	broad.mit.edu	37	chr2	179467258	179467258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggaggtttccatcctaGtgagatgcttgacttcgttt	6	15	12	8	1	0	2	0	2	0	1	3	4	2	3	2	3	1	4	2	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179467258G>T	ENST00000589042.1	-	283	55095	c.54871C>A	c.(54871-54873)Cta>Ata	p.L18291I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L9418I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.L16650I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L9351I|TTN_ENST00000460472.2_Missense_Mutation_p.L9226I|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L15723I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16650	Fibronectin type-III 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCATCCTAGTGAGATGCTT	0.398													T	179467258	G	T	179467258	3	4	364	1	0	0	0	0	1	0	0	0	16837	1020	36	4	53142	4	TTN	2	179467258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10674	179467258	63732115	2354	25856											
TTN	7273	broad.mit.edu	37	chr2	179474164	179474164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacgcttcttaatttcCtctggtacaataacattttc	9	16	5	11	1	2	0	0	0	2	0	4	0	3	0	1	1	3	4	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179474164C>A	ENST00000589042.1	-	273	52097	c.51873G>T	c.(51871-51873)gaG>gaT	p.E17291D	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8418D|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E15650D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8351D|TTN_ENST00000460472.2_Missense_Mutation_p.E8226D|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E14723D|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15650	Fibronectin type-III 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTAATTTCCTCTGGTACAA	0.413													A	179474164	C	A	179474164	3	1	364	1	0	0	0	0	1	0	0	0	16837	680	24	4	56180	4	TTN	2	179474164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6906	179474164	63725209	2355	25857											
TTN	7273	broad.mit.edu	37	chr2	179476842	179476842	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactttaggtcaacatgtcGttttgtcacatcaaccactg	10	13	6	12	1	3	0	3	0	0	0	4	0	3	0	2	1	2	1	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179476842G>A	ENST00000589042.1	-	267	50520	c.50296C>T	c.(50296-50298)Cga>Tga	p.R16766*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R7893*|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.R15125*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R7826*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R7701*|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R14198*|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15125	Ig-like 101.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAACATGTCGTTTTGTCACA	0.403													A	179476842	G	A	179476842	4	1	364	1	0	0	0	0	0	1	0	0	16837	1153	40	1	57781	1	TTN	2	179476842	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2678	179476842	63722531	2356	25858											
TTN	7273	broad.mit.edu	37	chr2	179477749	179477749	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaattcaaccttactgAtgttttgcctacatctttta	9	18	4	10	0	2	1	1	1	1	0	3	1	3	1	3	0	4	1	3	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179477749A>G	ENST00000589042.1	-	265	49923	c.49699T>C	c.(49699-49701)Tca>Cca	p.S16567P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S7694P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S14926P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S7627P|TTN_ENST00000460472.2_Missense_Mutation_p.S7502P|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S13999P|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14926	Fibronectin type-III 20.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTACTGATGTTTTGCCT	0.408													G	179477749	A	G	179477749	3	3	364	1	0	0	0	0	1	0	0	0	16837	333	12	3	58386	3	TTN	2	179477749	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	907	179477749	63721624	2357	25859											
TTN	7273	broad.mit.edu	37	chr2	179478634	179478634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctttagtgatatcagaaGgttctaggcgagttggagga	10	12	14	5	2	3	2	1	1	2	1	3	5	3	4	0	4	0	2	0	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179478634G>T	ENST00000589042.1	-	263	49600	c.49376C>A	c.(49375-49377)cCt>cAt	p.P16459H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P7586H|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P14818H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P7519H|TTN_ENST00000460472.2_Missense_Mutation_p.P7394H|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P13891H|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14818	Fibronectin type-III 19.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATATCAGAAGGTTCTAGGCG	0.433													T	179478634	G	T	179478634	3	4	364	1	0	0	0	0	1	0	0	0	16837	1000	35	4	58717	4	TTN	2	179478634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	885	179478634	63720739	2358	25860											
TTN	7273	broad.mit.edu	37	chr2	179483176	179483176	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggctcacttcaccatcaAatgtttctgtcacttctaag	11	13	5	12	0	6	0	4	0	2	0	6	0	6	0	1	1	0	2	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483176A>C	ENST00000589042.1	-	252	47233	c.47009T>G	c.(47008-47010)tTt>tGt	p.F15670C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F6797C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.F14029C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F6730C|TTN_ENST00000460472.2_Missense_Mutation_p.F6605C|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.F13102C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14029	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCATCAAATGTTTCTGT	0.388													C	179483176	A	C	179483176	3	2	364	1	0	0	0	0	1	0	0	0	16837	14	1	5	61128	5	TTN	2	179483176	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4542	179483176	63716197	2359	25861											
TTN	7273	broad.mit.edu	37	chr2	179483382	179483382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacaattttatacctccctTtgtctcctttcttggcttct	5	19	4	13	0	3	0	0	0	3	0	5	0	4	0	3	1	1	2	3	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179483382T>C	ENST00000589042.1	-	251	47119	c.46895A>G	c.(46894-46896)aAa>aGa	p.K15632R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K6759R|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.K13991R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K6692R|TTN_ENST00000460472.2_Missense_Mutation_p.K6567R|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.K13064R	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13991	Ig-like 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATACCTCCCTTTGTCTCCTTT	0.348													C	179483382	T	C	179483382	3	2	364	1	0	0	0	0	1	0	0	0	16837	1841	64	3	61246	3	TTN	2	179483382	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	206	179483382	63715991	2360	25862											
TTN	7273	broad.mit.edu	37	chr2	179494054	179494054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctctagtttcttccCtttgagataccattccactg	6	15	8	12	0	2	1	0	1	2	1	4	2	4	1	3	1	1	3	3	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494054C>A	ENST00000589042.1	-	240	44622	c.44398G>T	c.(44398-44400)Ggg>Tgg	p.G14800W	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G5927W|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G13159W|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G5860W|TTN_ENST00000460472.2_Missense_Mutation_p.G5735W|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G12232W	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13159	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTTCTTCCCTTTGAGATAC	0.478													A	179494054	C	A	179494054	3	1	364	1	0	0	0	0	1	0	0	0	16837	681	24	4	63787	4	TTN	2	179494054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10672	179494054	63705319	2361	25863											
TTN	7273	broad.mit.edu	37	chr2	179494085	179494085	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccactgggatatcttcGtaggagagctcgcagtcgaa	10	10	11	10	3	1	1	0	0	1	1	5	4	2	2	1	2	1	3	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179494085G>A	ENST00000589042.1	-	240	44591	c.44367C>T	c.(44365-44367)taC>taT	p.Y14789Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.Y5916Y|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.Y13148Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.Y5849Y|TTN_ENST00000460472.2_Silent_p.Y5724Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Silent_p.Y12221Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13148	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGATATCTTCGTAGGAGAGCT	0.488													A	179494085	G	A	179494085	2	1	364	1	0	0	0	0	0	0	0	1	16837	1140	40	1		1	TTN	2	179494085	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31	179494085	63705288	2362	25864											
TTN	7273	broad.mit.edu	37	chr2	179495647	179495647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacctccacactgtgcagggGtcgcaccagtttaatttccc	8	10	8	15	1	0	0	0	0	0	0	3	0	2	0	4	2	1	3	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179495647G>A	ENST00000589042.1	-	238	44262	c.44038C>T	c.(44038-44040)Ccc>Tcc	p.P14680S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P5807S|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P13039S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P5740S|TTN_ENST00000460472.2_Missense_Mutation_p.P5615S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P12112S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13039	Ig-like 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGTGCAGGGGTCGCACCAGT	0.493													A	179495647	G	A	179495647	3	1	364	1	0	0	0	0	1	0	0	0	16837	1261	44	2	64155	2	TTN	2	179495647	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1562	179495647	63703726	2363	25865											
TTN	7273	broad.mit.edu	37	chr2	179499996	179499996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttctcataaatggtaaCgtcctctattggtttaagca	10	17	6	8	1	3	0	1	0	3	0	5	0	4	0	1	2	2	3	1	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179499996C>T	ENST00000589042.1	-	228	42144	c.41920G>A	c.(41920-41922)Gtt>Att	p.V13974I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V5101I|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12333I|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V5034I|TTN_ENST00000460472.2_Missense_Mutation_p.V4909I|TTN_ENST00000342992.6_Missense_Mutation_p.V11406I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12333	Ig-like 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATGGTAACGTCCTCTATT	0.413													T	179499996	C	T	179499996	3	4	364	1	0	0	0	0	1	0	0	0	16837	536	19	1	66313	1	TTN	2	179499996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4349	179499996	63699377	2364	25866											
TTN	7273	broad.mit.edu	37	chr2	179500774	179500774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcatctgtgtcatctgCatcgttgatggtcagagccc	7	12	10	12	1	4	2	2	1	2	1	6	2	5	2	2	1	3	3	2	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500774C>T	ENST00000589042.1	-	226	41748	c.41524G>A	c.(41524-41526)Gca>Aca	p.A13842T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4969T|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A12201T|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A4902T|TTN_ENST00000460472.2_Missense_Mutation_p.A4777T|TTN_ENST00000342992.6_Missense_Mutation_p.A11274T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12201							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGTCATCTGCATCGTTGATG	0.498													T	179500774	C	T	179500774	3	4	364	1	0	0	0	0	1	0	0	0	16837	710	25	2	66717	2	TTN	2	179500774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	778	179500774	63698599	2365	25867											
TTN	7273	broad.mit.edu	37	chr2	179500811	179500811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcatcaagccaatgacGcctggcacaattcggccagg	10	5	11	15	3	1	1	1	1	0	0	2	1	1	1	4	3	1	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500811G>A	ENST00000589042.1	-	226	41711	c.41487C>T	c.(41485-41487)ggC>ggT	p.G13829G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.G4956G|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.G12188G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Silent_p.G4889G|TTN_ENST00000460472.2_Silent_p.G4764G|TTN_ENST00000342992.6_Silent_p.G11261G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12188	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.G11261G(1)|p.G4889G(1)|p.G4956G(1)|p.G4764G(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCAATGACGCCTGGCACAA	0.507													A	179500811	G	A	179500811	2	1	364	1	0	0	0	0	0	0	0	1	16837	1074	38	1		1	TTN	2	179500811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37	179500811	63698562	2366	25868											
TTN	7273	broad.mit.edu	37	chr2	179500846	179500846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtttctccaccacaaTcttgccatccttcctccaga	8	11	5	17	0	2	1	0	0	2	1	6	1	5	1	7	1	1	1	7	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179500846T>C	ENST00000589042.1	-	226	41676	c.41452A>G	c.(41452-41454)Att>Gtt	p.I13818V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I4945V|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.I12177V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I4878V|TTN_ENST00000460472.2_Missense_Mutation_p.I4753V|TTN_ENST00000342992.6_Missense_Mutation_p.I11250V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12177	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACCACAATCTTGCCATCC	0.512													C	179500846	T	C	179500846	3	2	364	1	0	0	0	0	1	0	0	0	16837	1435	50	3	66789	3	TTN	2	179500846	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35	179500846	63698527	2367	25869											
TTN	7273	broad.mit.edu	37	chr2	179528763	179528763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaacaggtgggacttcagGctttttaggaggcaccaccg	9	11	12	9	1	1	0	1	0	0	0	1	2	1	2	2	5	1	2	2	5	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528763G>A	ENST00000589042.1	-	169	36567	c.36343C>T	c.(36343-36345)Cct>Tct	p.P12115S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10264	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGACTTCAGGCTTTTTAGGA	0.383													A	179528763	G	A	179528763	3	1	364	1	0	0	0	0	1	0	0	0	16837	1218	42	2		2	TTN	2	179528763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27917	179528763	63670610	2368	25870											
TTN	7273	broad.mit.edu	37	chr2	179528782	179528782	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttttaggaggcaccacCgacactttcttttcagggat	8	13	10	10	1	2	0	1	0	1	0	2	3	2	2	2	4	0	2	2	4	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179528782C>T	ENST00000589042.1	-	169	36548	c.36324G>A	c.(36322-36324)tcG>tcA	p.S12108S	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10257	Ig-like 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGGCACCACCGACACTTTCT	0.378													T	179528782	C	T	179528782	2	4	364	1	0	0	0	0	0	0	0	1	16837	667	23	1		1	TTN	2	179528782	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	179528782	63670591	2369	25871											
TTN	7273	broad.mit.edu	37	chr2	179542594	179542594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttcaaatagaacttcctCttcctgaggtagagctacag	11	13	7	10	0	3	3	1	1	2	2	5	3	5	3	2	1	3	2	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179542594C>T	ENST00000589042.1	-	146	34269	c.34045G>A	c.(34045-34047)Gag>Aag	p.E11349K	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E11032K|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E10105K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11032	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGAACTTCCTCTTCCTGAGGT	0.383													T	179542594	C	T	179542594	3	4	364	1	0	0	0	0	1	0	0	0	16837	922	32	2	70352	2	TTN	2	179542594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13812	179542594	63656779	2370	25872											
TTN	7273	broad.mit.edu	37	chr2	179553506	179553506	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttcttagagacttcagCtttaagaaagtgttaaagtt	13	16	8	4	0	2	2	1	0	1	2	2	3	2	2	0	0	1	4	0	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179553506C>T	ENST00000589042.1	-	126	32320		c.e126-1		TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Splice_Site|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Splice_Site	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin								ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGACTTCAGCTTTAAGAAAG	0.368													T	179553506	C	T	179553506	5	4	364	1	0	0	0	0	0	0	1	0	16837	811	28	2	72382	2	TTN	2	179553506	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10912	179553506	63645867	2371	25873											
TTN	7273	broad.mit.edu	37	chr2	179574469	179574469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatattatttttgtaccagGcaacagttataggttgggaa	12	15	9	5	0	0	0	0	0	0	0	0	1	0	1	1	3	2	4	1	3	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179574469G>A	ENST00000589042.1	-	99	28801	c.28577C>T	c.(28576-28578)gCc>gTc	p.A9526V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A9209V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8282V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9209							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTACCAGGCAACAGTTAT	0.403													A	179574469	G	A	179574469	3	1	364	1	0	0	0	0	1	0	0	0	16837	1203	42	2	76008	2	TTN	2	179574469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20963	179574469	63624904	2372	25874											
TTN	7273	broad.mit.edu	37	chr2	179576705	179576705	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgatgcagaaacttcTcccacgctgttttcagcttt	10	14	7	10	1	2	2	1	1	1	1	3	2	2	2	1	0	3	5	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179576705T>C	ENST00000589042.1	-	96	28076	c.27852A>G	c.(27850-27852)ggA>ggG	p.G9284G	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.G8967G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Silent_p.G8040G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8967	Ig-like 76.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGAAACTTCTCCCACGCTGT	0.343													C	179576705	T	C	179576705	2	2	364	1	0	0	0	0	0	0	0	1	16837	1538	54	3		3	TTN	2	179576705	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2236	179576705	63622668	2373	25875											
TTN	7273	broad.mit.edu	37	chr2	179577432	179577432	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtctgacaaaccttttatgTagagatgtgttgtacaagaa	14	13	9	5	0	1	3	0	1	1	2	1	4	1	3	1	0	2	3	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179577432T>C	ENST00000589042.1	-	94	27544	c.27320A>G	c.(27319-27321)tAc>tGc	p.Y9107C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.Y8790C|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.Y7863C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8790	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCTTTTATGTAGAGATGTGT	0.338													C	179577432	T	C	179577432	3	2	364	1	0	0	0	0	1	0	0	0	16837	1638	57	3	77285	3	TTN	2	179577432	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	727	179577432	63621941	2374	25876											
TTN	7273	broad.mit.edu	37	chr2	179581942	179581942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagtggcagtattttctaCcaaagtcatcttgtagttgc	10	14	9	8	0	3	1	1	0	2	1	3	1	3	1	1	1	2	4	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179581942C>T	ENST00000589042.1	-	88	25743	c.25519G>A	c.(25519-25521)Gta>Ata	p.V8507I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V8190I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V7263I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8190	Ig-like 67.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTATTTTCTACCAAAGTCATC	0.458													T	179581942	C	T	179581942	3	4	364	1	0	0	0	0	1	0	0	0	16837	507	18	2	79110	2	TTN	2	179581942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4510	179581942	63617431	2375	25877											
TTN	7273	broad.mit.edu	37	chr2	179582375	179582375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctacattatgaacaaaaGatgtctgcaaattagcatca	16	12	6	7	0	2	2	1	1	1	1	2	2	2	2	0	0	5	3	0	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179582375G>T	ENST00000589042.1	-	87	25450	c.25226C>A	c.(25225-25227)tCt>tAt	p.S8409Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S8092Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S7165Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8092	Ig-like 66.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAACAAAAGATGTCTGCAA	0.418													T	179582375	G	T	179582375	3	4	364	1	0	0	0	0	1	0	0	0	16837	942	33	4	79407	4	TTN	2	179582375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	433	179582375	63616998	2376	25878											
TTN	7273	broad.mit.edu	37	chr2	179583670	179583670	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggcaaaacttccacaGaatcaggggtttgttcaaaa	14	10	8	9	0	2	1	2	0	0	1	4	1	4	1	2	3	1	3	2	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179583670G>T	ENST00000589042.1	-	84	24481	c.24257C>A	c.(24256-24258)tCt>tAt	p.S8086Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S7769Y|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S6842Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7769	Ig-like 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTTCCACAGAATCAGGGGT	0.468													T	179583670	G	T	179583670	3	4	364	1	0	0	0	0	1	0	0	0	16837	942	33	4	80388	4	TTN	2	179583670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1295	179583670	63615703	2377	25879											
TTN	7273	broad.mit.edu	37	chr2	179584372	179584372	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcactcatttcggcacaGgggattttaagggaagccac	10	11	11	9	1	2	0	2	0	0	0	3	2	2	2	1	4	1	1	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179584372G>T	ENST00000589042.1	-	82	24071	c.23847C>A	c.(23845-23847)ccC>ccA	p.P7949P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.P7632P|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.P6705P	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7632	Ig-like 62.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCGGCACAGGGGATTTTAA	0.408													T	179584372	G	T	179584372	2	4	364	1	0	0	0	0	0	0	0	1	16837	987	35	4		4	TTN	2	179584372	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	702	179584372	63615001	2378	25880											
TTN	7273	broad.mit.edu	37	chr2	179587193	179587193	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtgcagagccatttaatcGacaagtgagtgtaacaggta	13	9	13	6	1	0	2	0	1	0	1	1	3	0	2	1	2	3	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587193G>A	ENST00000589042.1	-	77	22545	c.22321C>T	c.(22321-22323)Cga>Tga	p.R7441*	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.R7124*|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.R6197*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7124	Ig-like 56.			S -> N (in Ref. 1; CAA62189).			ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R6197*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTTAATCGACAAGTGAGT	0.418													A	179587193	G	A	179587193	4	1	364	1	0	0	0	0	0	1	0	0	16837	1066	37	1	82352	1	TTN	2	179587193	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2821	179587193	63612180	2379	25881											
TTN	7273	broad.mit.edu	37	chr2	179587650	179587650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggttccagttccgtaaCaaaataaggcggttctaagg	13	9	11	8	2	1	1	0	0	1	1	3	1	3	1	2	4	1	4	2	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179587650C>T	ENST00000589042.1	-	76	22200	c.21976G>A	c.(21976-21978)Gtt>Att	p.V7326I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V7009I|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.V6082I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7009	Ig-like 55.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTTCCGTAACAAAATAAGGC	0.403													T	179587650	C	T	179587650	3	4	364	1	0	0	0	0	1	0	0	0	16837	478	17	2	82701	2	TTN	2	179587650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	457	179587650	63611723	2380	25882											
TTN	7273	broad.mit.edu	37	chr2	179588275	179588275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtcttcaaaatagatGttgcaccggtctcctttcac	10	13	7	11	1	4	1	2	0	2	1	5	1	4	1	2	1	1	2	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179588275G>A	ENST00000589042.1	-	74	21776	c.21552C>T	c.(21550-21552)aaC>aaT	p.N7184N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.N6867N|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.N5940N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6867	Ig-like 53.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAAATAGATGTTGCACCGGT	0.433													A	179588275	G	A	179588275	2	1	364	1	0	0	0	0	0	0	0	1	16837	1368	48	2		2	TTN	2	179588275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625	179588275	63611098	2381	25883											
TTN	7273	broad.mit.edu	37	chr2	179590617	179590617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacttgtgtggaagtttttgGatgcaatcttgtatttcttg	7	20	10	4	0	2	0	0	0	2	0	2	2	2	2	0	2	2	3	0	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179590617G>A	ENST00000589042.1	-	70	20656	c.20432C>T	c.(20431-20433)tCc>tTc	p.S6811F	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S6494F|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5567F	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6494	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGTTTTTGGATGCAATCTT	0.433													A	179590617	G	A	179590617	3	1	364	1	0	0	0	0	1	0	0	0	16837	1174	41	2	84269	2	TTN	2	179590617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2342	179590617	63608756	2382	25884											
TTN	7273	broad.mit.edu	37	chr2	179592328	179592328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacctgtcacaagcaacatCgtagtacaagagtcgctacc	14	7	7	13	2	1	1	1	0	0	1	3	1	1	1	2	0	4	4	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179592328C>T	ENST00000589042.1	-	68	20201	c.19977G>A	c.(19975-19977)acG>acA	p.T6659T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.T6342T|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Silent_p.T5415T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6342	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGCAACATCGTAGTACAAG	0.398													T	179592328	C	T	179592328	2	4	364	1	0	0	0	0	0	0	0	1	16837	871	31	1		1	TTN	2	179592328	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1711	179592328	63607045	2383	25885											
TTN	7273	broad.mit.edu	37	chr2	179603981	179603981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactttgtcgatgactagcGtatatgtattttgatcttgt	8	20	8	5	2	1	2	0	2	1	0	2	3	1	2	0	0	2	2	0	0	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179603981G>A	ENST00000589042.1	-	48	14203	c.13979C>T	c.(13978-13980)aCg>aTg	p.T4660M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.T4489M|TTN_ENST00000591111.1_Missense_Mutation_p.T4343M|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T4422M|TTN_ENST00000460472.2_Missense_Mutation_p.T4297M|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4343							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATGACTAGCGTATATGTATT	0.383													A	179603981	G	A	179603981	3	1	364	1	0	0	0	0	1	0	0	0	16837	1145	40	1	90810	1	TTN	2	179603981	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11653	179603981	63595392	2384	25886											
TTN	7273	broad.mit.edu	37	chr2	179605020	179605020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgcagaatcttgccctgCattttccagtggatttgcac	8	12	9	12	1	1	1	0	0	1	1	2	3	2	2	3	1	3	3	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179605020C>T	ENST00000589042.1	-	48	13164	c.12940G>A	c.(12940-12942)Gca>Aca	p.A4314T	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A4143T|TTN_ENST00000591111.1_Missense_Mutation_p.A3997T|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A4076T|TTN_ENST00000460472.2_Missense_Mutation_p.A3951T|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3997	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTTGCCCTGCATTTTCCAGT	0.433													T	179605020	C	T	179605020	3	4	364	1	0	0	0	0	1	0	0	0	16837	710	25	2	91849	2	TTN	2	179605020	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1039	179605020	63594353	2385	25887											
TTN	7273	broad.mit.edu	37	chr2	179606116	179606116	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagcccttgagcacaGcgaattggttttaactcctt	10	11	10	10	1	0	1	0	1	0	0	1	3	1	2	2	2	4	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606116G>T	ENST00000589042.1	-	48	12068	c.11844C>A	c.(11842-11844)cgC>cgA	p.R3948R	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.R3777R|TTN_ENST00000591111.1_Silent_p.R3631R|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Silent_p.R3710R|TTN_ENST00000460472.2_Silent_p.R3585R|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3631							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTTGAGCACAGCGAATTGGTT	0.478													T	179606116	G	T	179606116	2	4	364	1	0	0	0	0	0	0	0	1	16837	958	34	4		4	TTN	2	179606116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1096	179606116	63593257	2386	25888											
TTN	7273	broad.mit.edu	37	chr2	179606396	179606396	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggttaatagcactccattaAagaaccactgaattttaggt	14	12	8	7	0	0	2	0	1	0	1	1	2	1	2	2	2	2	2	2	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179606396A>C	ENST00000589042.1	-	48	11788	c.11564T>G	c.(11563-11565)tTt>tGt	p.F3855C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.F3684C|TTN_ENST00000591111.1_Missense_Mutation_p.F3538C|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.F3617C|TTN_ENST00000460472.2_Missense_Mutation_p.F3492C|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3538							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTCCATTAAAGAACCACTG	0.413													C	179606396	A	C	179606396	3	2	364	1	0	0	0	0	1	0	0	0	16837	14	1	5	93225	5	TTN	2	179606396	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	280	179606396	63592977	2387	25889											
TTN	7273	broad.mit.edu	37	chr2	179610944	179610944	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgaatacagcatctgAattttctggaattttaaaat	15	16	5	5	0	2	2	0	2	2	0	2	3	2	3	0	1	2	1	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179610944A>C	ENST00000360870.5	-	46	16405	c.16183T>G	c.(16183-16185)Tca>Gca	p.S5395A	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8903	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAGCATCTGAATTTTCTGGA	0.333													C	179610944	A	C	179610944	3	2	364	1	0	0	0	0	1	0	0	0	16837	246	9	5	94114	5	TTN	2	179610944	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4548	179610944	63588429	2388	25890											
TTN	7273	broad.mit.edu	37	chr2	179614545	179614545	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctttaaaaggactccattTtgaaaccatgttacaactgg	13	13	7	8	0	0	1	0	1	0	0	1	2	1	2	2	2	4	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179614545T>C	ENST00000360870.5	-	46	12804	c.12582A>G	c.(12580-12582)caA>caG	p.Q4194Q	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3538							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGACTCCATTTTGAAACCATG	0.373													C	179614545	T	C	179614545	2	2	364	1	0	0	0	0	0	0	0	1	16837	1838	64	3		3	TTN	2	179614545	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3601	179614545	63584828	2389	25891											
TTN	7273	broad.mit.edu	37	chr2	179616403	179616403	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaacctataacttccaGaatctctgtcttggaccctt	10	14	5	12	0	2	1	0	0	2	1	4	2	3	2	3	1	2	1	3	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179616403G>T	ENST00000360870.5	-	46	10946	c.10724C>A	c.(10723-10725)tCt>tAt	p.S3575Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3570	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAACTTCCAGAATCTCTGTC	0.403													T	179616403	G	T	179616403	3	4	364	1	0	0	0	0	1	0	0	0	16837	942	33	4	99573	4	TTN	2	179616403	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1858	179616403	63582970	2390	25892											
TTN	7273	broad.mit.edu	37	chr2	179621439	179621439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatattttgctctcctcCtttgtgaaagaggaatctgc	9	15	9	8	0	2	3	0	2	2	2	4	5	3	4	2	1	2	1	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179621439C>A	ENST00000589042.1	-	46	10988	c.10764G>T	c.(10762-10764)aaG>aaT	p.K3588N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN_ENST00000342175.6_Missense_Mutation_p.K3417N|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3274							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCTCTCCTCCTTTGTGAAAG	0.408													A	179621439	C	A	179621439	3	1	364	1	0	0	0	0	1	0	0	0	16837	680	24	4	100492	4	TTN	2	179621439	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5036	179621439	63577934	2391	25893											
TTN	7273	broad.mit.edu	37	chr2	179639038	179639038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgaggttctgacgtccaCgacgagatgtaattgtatat	10	12	11	8	4	1	3	0	2	1	1	2	5	2	3	2	1	0	3	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179639038C>T	ENST00000589042.1	-	30	7177	c.6953G>A	c.(6952-6954)cGt>cAt	p.R2318H	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R2318H|TTN_ENST00000342175.6_Missense_Mutation_p.R2272H|TTN_ENST00000591111.1_Missense_Mutation_p.R2318H|TTN_ENST00000359218.5_Missense_Mutation_p.R2272H|TTN_ENST00000460472.2_Missense_Mutation_p.R2272H|TTN_ENST00000342992.6_Missense_Mutation_p.R2318H|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000584485.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2033	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGACGTCCACGACGAGATGT	0.403													T	179639038	C	T	179639038	3	4	364	1	0	0	0	0	1	0	0	0	16837	536	19	1	104367	1	TTN	2	179639038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17599	179639038	63560335	2392	25894											
TTN	7273	broad.mit.edu	37	chr2	179640431	179640431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgattttgccttcttcggCaagagctttcttttcctctt	4	19	7	11	2	3	2	0	1	3	1	5	2	4	2	2	1	2	2	2	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640431C>T	ENST00000589042.1	-	28	6384	c.6160G>A	c.(6160-6162)Gcc>Acc	p.A2054T	TTN_ENST00000360870.5_Missense_Mutation_p.A2054T|TTN_ENST00000342175.6_Missense_Mutation_p.A2008T|TTN_ENST00000591111.1_Missense_Mutation_p.A2054T|TTN_ENST00000359218.5_Missense_Mutation_p.A2008T|TTN_ENST00000460472.2_Missense_Mutation_p.A2008T|TTN_ENST00000342992.6_Missense_Mutation_p.A2054T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1823							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTCTTCGGCAAGAGCTTTC	0.413													T	179640431	C	T	179640431	3	4	364	1	0	0	0	0	1	0	0	0	16837	710	25	2	105168	2	TTN	2	179640431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1393	179640431	63558942	2393	25895											
TTN	7273	broad.mit.edu	37	chr2	179640599	179640599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcgcttgaatttactgcGcagctcttccgactcttcag	6	14	8	13	3	4	1	1	1	3	0	5	2	5	1	1	0	4	3	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179640599G>A	ENST00000589042.1	-	28	6216	c.5992C>T	c.(5992-5994)Cgc>Tgc	p.R1998C	TTN_ENST00000360870.5_Missense_Mutation_p.R1998C|TTN_ENST00000342175.6_Missense_Mutation_p.R1952C|TTN_ENST00000591111.1_Missense_Mutation_p.R1998C|TTN_ENST00000359218.5_Missense_Mutation_p.R1952C|TTN_ENST00000460472.2_Missense_Mutation_p.R1952C|TTN_ENST00000342992.6_Missense_Mutation_p.R1998C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1748			R -> H.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTTACTGCGCAGCTCTTCC	0.453													A	179640599	G	A	179640599	3	1	364	1	0	0	0	0	1	0	0	0	16837	1087	38	1	105336	1	TTN	2	179640599	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168	179640599	63558774	2394	25896											
TTN	7273	broad.mit.edu	37	chr2	179650454	179650454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatctttccgttgttagatCtgtagttttcttgatctgca	7	20	7	7	1	4	2	0	1	4	1	5	2	5	2	1	0	1	5	1	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179650454C>A	ENST00000589042.1	-	15	2610	c.2386G>T	c.(2386-2388)Gat>Tat	p.D796Y	TTN_ENST00000360870.5_Missense_Mutation_p.D796Y|TTN_ENST00000342175.6_Missense_Mutation_p.D750Y|TTN_ENST00000591111.1_Missense_Mutation_p.D796Y|TTN_ENST00000359218.5_Missense_Mutation_p.D750Y|TTN_ENST00000460472.2_Missense_Mutation_p.D750Y|TTN_ENST00000342992.6_Missense_Mutation_p.D796Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	796							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.D750N(3)|p.D796N(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTGTTAGATCTGTAGTTTTC	0.418													A	179650454	C	A	179650454	3	1	364	1	0	0	0	0	1	0	0	0	16837	913	32	4	108994	4	TTN	2	179650454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9855	179650454	63548919	2395	25897											
TTN	7273	broad.mit.edu	37	chr2	179658255	179658255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagttacagcagtcttctccGcttcctttcttacctgcttt	5	18	5	13	1	3	0	0	0	3	0	5	0	4	0	3	0	4	4	3	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179658255G>A	ENST00000589042.1	-	9	1636	c.1412C>T	c.(1411-1413)gCg>gTg	p.A471V	TTN_ENST00000360870.5_Missense_Mutation_p.A471V|TTN_ENST00000342175.6_Missense_Mutation_p.A471V|TTN_ENST00000591111.1_Missense_Mutation_p.A471V|TTN_ENST00000359218.5_Missense_Mutation_p.A471V|TTN_ENST00000460472.2_Missense_Mutation_p.A471V|TTN_ENST00000342992.6_Missense_Mutation_p.A471V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	471							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTCTTCTCCGCTTCCTTTCT	0.393													A	179658255	G	A	179658255	3	1	364	1	0	0	0	0	1	0	0	0	16837	1087	38	1	109992	1	TTN	2	179658255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7801	179658255	63541118	2396	25898											
CCDC141	285025	broad.mit.edu	37	chr2	179720988	179720989	+	Frame_Shift_Ins	INS	-	-	T																															atactttcttgttacctgcaINSttttttcagcatacatatca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179720988_179720989insT	ENST00000420890.2	-	18	2977_2978	c.2860_2861insA	c.(2860-2862)atgfs	p.M954fs	CCDC141_ENST00000295723.5_Frame_Shift_Ins_p.M379fs	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	379							protein binding	p.M379fs*4(1)		NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTTACCTGCATTTTTTCAGCA	0.297													T	179720989	-	T	179720988	7	5	364	1	0	1	1	0	0	0	0	0	2801	217	8	0	1515	0	CCDC141	2	179720988	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	62733	179720988	63478385	2397	25899											
SESTD1	91404	broad.mit.edu	37	chr2	179982307	179982307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcaccatctgaagcatCtttaaccttcgcacatctac	12	11	4	14	1	3	1	0	1	3	0	4	1	3	1	2	0	5	3	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:179982307C>A	ENST00000428443.3	-	14	1792	c.1476G>T	c.(1474-1476)aaG>aaT	p.K492N		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	492					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			TCTGAAGCATCTTTAACCTTC	0.343													A	179982307	C	A	179982307	3	1	364	1	0	0	0	0	1	0	0	0	14220	912	32	4	634	4	SESTD1	2	179982307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261319	179982307	63217066	2398	25900											
SESTD1	91404	broad.mit.edu	37	chr2	180008500	180008500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctgagccattaaatcgaCgctgctgtaattcggacaac	11	10	9	11	4	1	1	0	1	1	0	3	3	1	2	1	1	3	3	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180008500C>T	ENST00000428443.3	-	9	984	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_178123.4	NP_835224.3	Q86VW0	SESD1_HUMAN	SEC14 and spectrin domains 1	223					regulation of calcium ion transport via voltage-gated calcium channel activity		phosphatidic acid binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(3)	30			OV - Ovarian serous cystadenocarcinoma(117;0.0344)|Epithelial(96;0.0531)|all cancers(119;0.147)			ATTAAATCGACGCTGCTGTAA	0.378													T	180008500	C	T	180008500	3	4	364	1	0	0	0	0	1	0	0	0	14220	536	19	1	1462	1	SESTD1	2	180008500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26193	180008500	63190873	2399	25901											
ZNF385B	151126	broad.mit.edu	37	chr2	180383346	180383346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatgtatggttaataaccGctttttgcacaggatccatc	12	13	7	9	1	0	0	0	0	0	0	2	1	1	1	2	2	2	4	2	2	4	5	rs139953454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180383346G>A	ENST00000410066.1	-	5	1019	c.416C>T	c.(415-417)gCg>gTg	p.A139V	ZNF385B_ENST00000409343.1_Missense_Mutation_p.A63V|ZNF385B_ENST00000409692.1_Missense_Mutation_p.A37V|ZNF385B_ENST00000466398.1_5'UTR|ZNF385B_ENST00000336917.5_Missense_Mutation_p.A37V	NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	139						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GTTAATAACCGCTTTTTGCAC	0.343													A	180383346	G	A	180383346	3	1	364	1	0	0	0	0	1	0	0	0	17978	1087	38	1	1023	1	ZNF385B	2	180383346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	374846	180383346	62816027	2400	25902											
CWC22	57703	broad.mit.edu	37	chr2	180851516	180851516	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctatcccggggggatcGttcttgttcttcatatctaa	7	16	8	10	2	5	0	1	0	4	0	8	1	6	1	1	3	0	2	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:180851516G>A	ENST00000410053.3	-	4	411	c.112C>T	c.(112-114)Cga>Tga	p.R38*	CWC22_ENST00000295749.6_Nonsense_Mutation_p.R38*	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	38	Arg-rich.					catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CGGGGGGATCGTTCTTGTTCT	0.338													A	180851516	G	A	180851516	4	1	364	1	0	0	0	0	0	1	0	0	4101	1153	40	1	2682	1	CWC22	2	180851516	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	468170	180851516	62347857	2401	25903											
ITGA4	3676	broad.mit.edu	37	chr2	182376437	182376437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttccagataaactttgcAaggttttgtgcccatgaaaa	13	14	7	7	0	0	2	0	1	0	1	1	2	1	2	2	1	3	2	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182376437A>G	ENST00000397033.2	+	17	2287	c.1857A>G	c.(1855-1857)gcA>gcG	p.A619A		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	619					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TAAACTTTGCAAGGTTTTGTG	0.299													G	182376437	A	G	182376437	2	3	364	1	0	0	0	0	0	0	0	1	7936	117	5	3		3	ITGA4	2	182376437	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1524921	182376437	60822936	2402	25904											
CERKL	375298	broad.mit.edu	37	chr2	182412565	182412565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagatttgggagatccCtgtgccctcctaaaagaaag	12	9	9	11	0	1	3	1	0	0	3	3	4	3	3	4	1	1	0	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182412565C>T	ENST00000410087.3	-	9	1243	c.1143G>A	c.(1141-1143)caG>caA	p.Q381Q	CERKL_ENST00000339098.5_Silent_p.Q407Q|CERKL_ENST00000374969.2_Silent_p.Q268Q|CERKL_ENST00000409440.3_Silent_p.Q363Q|CERKL_ENST00000374970.2_Silent_p.Q312Q|CERKL_ENST00000479558.1_5'UTR	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	407					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			TGGGAGATCCCTGTGCCCTCC	0.393													T	182412565	C	T	182412565	2	4	364	1	0	0	0	0	0	0	0	1	3298	680	24	2		2	CERKL	2	182412565	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36128	182412565	60786808	2403	25905											
SSFA2	6744	broad.mit.edu	37	chr2	182780677	182780677	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatgcagcccaccttcCttcacctataagtacacacc	12	8	4	17	0	1	1	1	0	0	1	2	1	2	1	6	0	3	2	6	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:182780677C>A	ENST00000431877.2	+	11	2489	c.2310C>A	c.(2308-2310)tcC>tcA	p.S770S	SSFA2_ENST00000320370.7_Silent_p.S770S|SSFA2_ENST00000409001.1_Silent_p.S770S|SSFA2_ENST00000409136.1_Silent_p.S279S|SSFA2_ENST00000428267.2_Silent_p.S617S	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	770						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			GCCCACCTTCCTTCACCTATA	0.453													A	182780677	C	A	182780677	2	1	364	1	0	0	0	0	0	0	0	1	15279	668	24	4		4	SSFA2	2	182780677	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	368112	182780677	60418696	2404	25906											
FRZB	2487	broad.mit.edu	37	chr2	183699582	183699582	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatttcgggatttagttGcgtgcttgccgggggttcga	4	16	15	6	4	0	0	0	0	0	0	2	2	0	1	1	3	3	4	1	3	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183699582G>A	ENST00000295113.4	-	6	1581	c.972C>T	c.(970-972)cgC>cgT	p.R324R		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	324			R -> G (in hip OA susceptibility; has diminished ability to antagonize Wnt signaling, in vitro; dbSNP:rs7775).		brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding	p.R324R(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			GGATTTAGTTGCGTGCTTGCC	0.428													A	183699582	G	A	183699582	2	1	364	1	0	0	0	0	0	0	0	1	6117	1306	46	2		2	FRZB	2	183699582	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	918905	183699582	59499791	2405	25907											
FRZB	2487	broad.mit.edu	37	chr2	183702695	183702695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttaacttttttaccgagtCgatccttccacttctcagct	7	16	4	14	2	1	0	1	0	1	0	5	2	3	0	4	0	3	1	4	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183702695C>T	ENST00000295113.4	-	5	1451	c.842G>A	c.(841-843)cGa>cAa	p.R281Q		NM_001463.3	NP_001454.2	Q92765	SFRP3_HUMAN	frizzled-related protein	281	NTR.				brain development|cochlea morphogenesis|gonad development|mammary gland involution|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of hepatocyte differentiation|positive regulation of apoptosis|positive regulation of fat cell differentiation|skeletal system development|vasculature development|Wnt receptor signaling pathway	cytoplasm|extracellular space|membrane	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(117;0.109)|Epithelial(96;0.231)			TTTACCGAGTCGATCCTTCCA	0.328													T	183702695	C	T	183702695	3	4	364	1	0	0	0	0	1	0	0	0	6117	884	31	1	143	1	FRZB	2	183702695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3113	183702695	59496678	2406	25908											
NCKAP1	10787	broad.mit.edu	37	chr2	183792952	183792952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgtatgttgttgcaatGccctgagaaaatgcaaatag	14	11	10	6	0	0	1	0	1	0	1	0	2	0	1	1	0	3	6	1	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183792952G>A	ENST00000361354.4	-	29	3445	c.3073C>T	c.(3073-3075)Cat>Tat	p.H1025Y	NCKAP1_ENST00000360982.2_Missense_Mutation_p.H1031Y|NCKAP1_ENST00000478449.1_5'UTR	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGTTGCAATGCCCTGAGAAA	0.383													A	183792952	G	A	183792952	3	1	364	1	0	0	0	0	1	0	0	0	10297	1319	46	2	325	2	NCKAP1	2	183792952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90257	183792952	59406421	2407	25909											
NCKAP1	10787	broad.mit.edu	37	chr2	183853816	183853816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtggaaaacttcatcccGaaagagagagaggcaagagc	17	5	12	7	1	1	3	1	0	0	3	2	7	2	4	1	2	2	1	1	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183853816G>A	ENST00000361354.4	-	9	1261	c.889C>T	c.(889-891)Cgg>Tgg	p.R297W	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R303W	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			ACTTCATCCCGAAAGAGAGAG	0.403													A	183853816	G	A	183853816	3	1	364	1	0	0	0	0	1	0	0	0	10297	1057	37	1	2589	1	NCKAP1	2	183853816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60864	183853816	59345557	2408	25910											
NUP35	129401	broad.mit.edu	37	chr2	183995273	183995273	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttaacttcaagaagacaGgtaatataaatacccttttg	15	13	5	8	0	1	2	1	0	0	2	1	2	1	2	2	1	2	1	2	1	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:183995273G>A	ENST00000295119.4	+	3	442	c.339G>A	c.(337-339)caG>caA	p.Q113Q	NUP35_ENST00000409798.1_Splice_Site_p.Q96Q|NUP35_ENST00000541912.1_5'UTR|NUP35_ENST00000497330.1_3'UTR	NM_138285.3	NP_612142.2	Q8NFH5	NUP53_HUMAN	nucleoporin 35kDa	113					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	intermediate filament cytoskeleton|nuclear membrane|nuclear pore|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)	8						CAAGAAGACAGGTAATATAAA	0.378													A	183995273	G	A	183995273	5	1	364	1	0	0	0	0	0	0	1	0	10839	1014	35	2	349	2	NUP35	2	183995273	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141457	183995273	59204100	2409	25911											
ZNF804A	91752	broad.mit.edu	37	chr2	185802362	185802362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttcaaaatgatatgaaaCacatgagtcagaatcaggct	16	11	7	7	0	4	4	3	3	1	1	4	4	4	4	0	1	1	1	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:185802362C>T	ENST00000302277.6	+	4	2833	c.2239C>T	c.(2239-2241)Cac>Tac	p.H747Y		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	747			H -> R (in dbSNP:rs12477430).			intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TGATATGAAACACATGAGTCA	0.328													T	185802362	C	T	185802362	3	4	364	1	0	0	0	0	1	0	0	0	18269	478	17	2	2253	2	ZNF804A	2	185802362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1807089	185802362	57397011	2410	25912											
FSIP2	401024	broad.mit.edu	37	chr2	186673090	186673090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttttagaagaggtgttgGccttgttcttggctaaacta	10	15	10	6	0	1	2	0	0	1	2	1	2	1	2	1	3	2	3	1	3	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:186673090G>A	ENST00000343098.5	+	17	19324	c.19324G>A	c.(19324-19326)Gcc>Acc	p.A6442T	FSIP2_ENST00000424728.1_Missense_Mutation_p.A6353T	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAGGTGTTGGCCTTGTTCTT	0.338													A	186673090	G	A	186673090	3	1	364	1	0	0	0	0	1	0	0	0	6127	1203	42	2	19390	2	FSIP2	2	186673090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	870728	186673090	56526283	2411	25913											
ITGAV	3685	broad.mit.edu	37	chr2	187466773	187466773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtttcttctcgtgggagctCccaaagcaaacaccacccag	10	9	8	14	1	2	0	0	0	2	0	4	1	3	1	3	1	3	3	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187466773C>T	ENST00000261023.3	+	2	485	c.211C>T	c.(211-213)Ccc>Tcc	p.P71S	ITGAV_ENST00000433736.2_Missense_Mutation_p.P25S|ITGAV_ENST00000374907.3_Missense_Mutation_p.P71S	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	71					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		CGTGGGAGCTCCCAAAGCAAA	0.473													T	187466773	C	T	187466773	3	4	364	1	0	0	0	0	1	0	0	0	7946	855	30	2	268	2	ITGAV	2	187466773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	793683	187466773	55732600	2412	25914											
ITGAV	3685	broad.mit.edu	37	chr2	187495528	187495528	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatctttttattttagaagaTattgatgctgatggacaggg	12	16	10	3	0	1	4	0	2	1	2	1	5	1	5	0	2	1	1	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187495528T>A	ENST00000261023.3	+	5	802	c.528T>A	c.(526-528)gaT>gaA	p.D176E	ITGAV_ENST00000433736.2_Missense_Mutation_p.D130E|ITGAV_ENST00000374907.3_Intron	NM_002210.3	NP_002201	P06756	ITAV_HUMAN	integrin, alpha V	176					angiogenesis|axon guidance|blood coagulation|cell-matrix adhesion|entry of bacterium into host cell|entry of symbiont into host cell by promotion of host phagocytosis|entry of virus into host cell|ERK1 and ERK2 cascade|integrin-mediated signaling pathway|leukocyte migration|negative regulation of apoptosis|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|positive regulation of cell adhesion|positive regulation of cell proliferation|regulation of apoptotic cell clearance	integrin complex	receptor activity|transforming growth factor beta binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47			OV - Ovarian serous cystadenocarcinoma(117;0.0185)|Epithelial(96;0.072)|all cancers(119;0.189)	STAD - Stomach adenocarcinoma(3;0.106)|COAD - Colon adenocarcinoma(31;0.108)		TTTTAGAAGATATTGATGCTG	0.294													A	187495528	T	A	187495528	3	1	364	1	0	0	0	0	1	0	0	0	7946	1403	49	5	597	5	ITGAV	2	187495528	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28755	187495528	55703845	2413	25915											
FAM171B	165215	broad.mit.edu	37	chr2	187626631	187626631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacaggtaatgaggaggCgtatgggcgttcccatattc	9	11	12	9	2	1	1	1	1	1	0	4	2	2	2	1	4	0	3	1	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187626631C>T	ENST00000304698.5	+	8	1765	c.1562C>T	c.(1561-1563)gCg>gTg	p.A521V		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	521						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						AATGAGGAGGCGTATGGGCGT	0.413													T	187626631	C	T	187626631	3	4	364	1	0	0	0	0	1	0	0	0	5536	768	27	1	1592	1	FAM171B	2	187626631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131103	187626631	55572742	2414	25916											
FAM171B	165215	broad.mit.edu	37	chr2	187627518	187627518	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactaacatctggaagaagCgagaggaacgcccactgatt	15	6	11	9	2	1	4	0	1	1	3	1	7	1	6	1	2	3	0	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187627518C>T	ENST00000304698.5	+	8	2652	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	817						integral to membrane	DNA binding			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						CTGGAAGAAGCGAGAGGAACG	0.433													T	187627518	C	T	187627518	4	4	364	1	0	0	0	0	0	1	0	0	5536	760	27	1	2479	1	FAM171B	2	187627518	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	887	187627518	55571855	2415	25917											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693297	187693297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtatgctaggtaaaattCcaagtctattttgttttaag	12	16	9	4	0	1	0	0	0	1	0	2	1	2	0	1	2	1	4	1	2	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693297C>T	ENST00000295131.2	-	9	1355	c.1316G>A	c.(1315-1317)gGa>gAa	p.G439E		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	439					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			AGGTAAAATTCCAAGTCTATT	0.333													T	187693297	C	T	187693297	3	4	364	1	0	0	0	0	1	0	0	0	18338	855	30	2	589	2	ZSWIM2	2	187693297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65779	187693297	55506076	2416	25918											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693346	187693346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccaggaataaaaagatCtggttctttctgctttgata	13	14	8	6	0	3	2	0	1	3	1	3	3	3	3	1	2	2	3	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187693346C>A	ENST00000295131.2	-	9	1306	c.1267G>T	c.(1267-1269)Gat>Tat	p.D423Y		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	423					apoptosis		zinc ion binding	p.D423Y(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			ATAAAAAGATCTGGTTCTTTC	0.338													A	187693346	C	A	187693346	3	1	364	1	0	0	0	0	1	0	0	0	18338	913	32	4	638	4	ZSWIM2	2	187693346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49	187693346	55506027	2417	25919											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698684	187698684	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactgtacctcacgaaatgTaaacgtgtgggaaagatggc	14	9	11	7	2	1	1	1	0	0	1	1	3	1	2	1	2	3	2	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187698684T>C	ENST00000295131.2	-	6	856	c.817A>G	c.(817-819)Aca>Gca	p.T273A		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	273					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCACGAAATGTAAACGTGTGG	0.363													C	187698684	T	C	187698684	3	2	364	1	0	0	0	0	1	0	0	0	18338	1638	57	3	1100	3	ZSWIM2	2	187698684	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5338	187698684	55500689	2418	25920											
ZSWIM2	151112	broad.mit.edu	37	chr2	187702251	187702251	+	Frame_Shift_Del	DEL	T	T	-																															ttagctaagatcttcatgcaTtttatatgaatactattgcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:187702251delT	ENST00000295131.2	-	5	564	c.525delA	c.(523-525)aaafs	p.K175fs		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	175					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			TCTTCATGCATTTTATATGAA	0.318													-	187702251	T	-	187702251	7	5	364	1	0	1	0	1	0	0	0	0	18338	1490	52	0	1396	0	ZSWIM2	2	187702251	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	3567	187702251	55497122	2419	25921											
COL3A1	1281	broad.mit.edu	37	chr2	189868847	189868847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaccaggagagaagggatCgcctggtgcccagggcccac	10	3	14	14	1	0	1	0	0	0	1	1	4	0	3	5	4	2	0	5	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189868847C>T	ENST00000304636.3	+	39	2971	c.2801C>T	c.(2800-2802)tCg>tTg	p.S934L	COL3A1_ENST00000317840.5_Intron	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	934	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GAGAAGGGATCGCCTGGTGCC	0.488													T	189868847	C	T	189868847	3	4	364	1	0	0	0	0	1	0	0	0	3719	893	31	1	2955	1	COL3A1	2	189868847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2166596	189868847	53330526	2420	25922											
COL5A2	1290	broad.mit.edu	37	chr2	189899862	189899862	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggctgtattaggtgatTggtggtctccataagcgaac	10	13	12	6	1	1	1	0	1	1	0	2	2	1	1	1	4	2	2	1	4	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189899862T>C	ENST00000374866.3	-	53	4407	c.4133A>G	c.(4132-4134)cAa>cGa	p.Q1378R		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1378	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			ATTAGGTGATTGGTGGTCTCC	0.358													C	189899862	T	C	189899862	3	2	364	1	0	0	0	0	1	0	0	0	3728	1812	63	3	374	3	COL5A2	2	189899862	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31015	189899862	53299511	2421	25923											
COL5A2	1290	broad.mit.edu	37	chr2	189918930	189918930	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagggcccaaaggaccTggaagaccctgtcaattaac	12	6	11	12	0	1	1	1	0	0	1	1	4	1	4	4	4	1	0	4	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:189918930T>C	ENST00000374866.3	-	36	2674	c.2400A>G	c.(2398-2400)ccA>ccG	p.P800P		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	800					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CCAAAGGACCTGGAAGACCCT	0.403													C	189918930	T	C	189918930	2	2	364	1	0	0	0	0	0	0	0	1	3728	1567	55	3		3	COL5A2	2	189918930	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19068	189918930	53280443	2422	25924											
WDR75	84128	broad.mit.edu	37	chr2	190327287	190327287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagaataaggagtttCtcccgcgtttaggagctact	12	10	11	8	2	1	2	0	0	1	2	2	5	1	4	1	2	2	3	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190327287C>A	ENST00000314761.4	+	9	916	c.856C>A	c.(856-858)Ctc>Atc	p.L286I		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	286						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TAAGGAGTTTCTCCCGCGTTT	0.423													A	190327287	C	A	190327287	3	1	364	1	0	0	0	0	1	0	0	0	17427	913	32	4	890	4	WDR75	2	190327287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	408357	190327287	52872086	2423	25925											
WDR75	84128	broad.mit.edu	37	chr2	190331306	190331306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagatgactctgacatatAcagtaagttattaaatatgt	17	13	6	5	0	1	3	0	2	1	1	1	3	1	3	0	0	2	2	0	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190331306A>G	ENST00000314761.4	+	13	1505	c.1445A>G	c.(1444-1446)tAc>tGc	p.Y482C		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	482						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			TCTGACATATACAGTAAGTTA	0.333													G	190331306	A	G	190331306	3	3	364	1	0	0	0	0	1	0	0	0	17427	391	14	3	1495	3	WDR75	2	190331306	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4019	190331306	52868067	2424	25926											
WDR75	84128	broad.mit.edu	37	chr2	190338996	190338996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaggatgaaaaactaaacGaaactttagagaatgagctg	19	7	10	5	1	0	3	0	2	0	1	0	6	0	4	0	1	5	2	0	1	7	3	rs116046757	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190338996G>A	ENST00000314761.4	+	19	2194	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	712						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAAACTAAACGAAACTTTAGA	0.363													A	190338996	G	A	190338996	3	1	364	1	0	0	0	0	1	0	0	0	17427	1059	37	1	2208	1	WDR75	2	190338996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7690	190338996	52860377	2425	25927											
WDR75	84128	broad.mit.edu	37	chr2	190340124	190340124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttaggaaaatagactacaGctggatagctgccctttaag	14	11	9	7	0	0	1	0	0	0	1	0	3	0	3	1	2	4	2	1	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190340124G>A	ENST00000314761.4	+	21	2534	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	825						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			ATAGACTACAGCTGGATAGCT	0.348													A	190340124	G	A	190340124	3	1	364	1	0	0	0	0	1	0	0	0	17427	971	34	2	2556	2	WDR75	2	190340124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1128	190340124	52859249	2426	25928											
SLC40A1	30061	broad.mit.edu	37	chr2	190428487	190428487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttgaatgaaccttgatcGgatatcttcaaaaggagaaa	15	11	8	7	1	2	4	1	3	1	1	4	6	3	5	2	2	1	0	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190428487G>A	ENST00000261024.2	-	7	1651	c.1225C>T	c.(1225-1227)Cga>Tga	p.R409*		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	409					anatomical structure morphogenesis|cellular iron ion homeostasis	cytoplasm|integral to plasma membrane	iron ion transmembrane transporter activity|protein binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			AACCTTGATCGGATATCTTCA	0.408													A	190428487	G	A	190428487	4	1	364	1	0	0	0	0	0	1	0	0	14722	1124	39	1	498	1	SLC40A1	2	190428487	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88363	190428487	52770886	2427	25929											
ASNSD1	54529	broad.mit.edu	37	chr2	190530910	190530910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgagcatttcagtcaaGatttaaaagaggacttacta	14	12	8	7	0	2	3	2	1	0	2	2	4	2	4	0	1	3	2	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190530910G>A	ENST00000260952.4	+	4	465	c.52G>A	c.(52-54)Gat>Aat	p.D18N	ASNSD1_ENST00000607535.1_3'UTR|ASNSD1_ENST00000607690.1_3'UTR|ASNSD1_ENST00000607829.1_3'UTR|ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	18	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TTTCAGTCAAGATTTAAAAGA	0.338													A	190530910	G	A	190530910	3	1	364	1	0	0	0	0	1	0	0	0	1054	942	33	2	54	2	ASNSD1	2	190530910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102423	190530910	52668463	2428	25930											
ASNSD1	54529	broad.mit.edu	37	chr2	190531984	190531984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagggaataaacagaaaAataaatgtgaaataccttca	22	7	8	4	0	1	3	1	1	0	2	1	5	1	4	1	1	2	0	1	1	10	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190531984A>G	ENST00000260952.4	+	4	1539	c.1126A>G	c.(1126-1128)Aat>Gat	p.N376D	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	376	Asparagine synthetase.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			TAAACAGAAAAATAAATGTGA	0.368													G	190531984	A	G	190531984	3	3	364	1	0	0	0	0	1	0	0	0	1054	14	1	3	1128	3	ASNSD1	2	190531984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1074	190531984	52667389	2429	25931											
ANKAR	150709	broad.mit.edu	37	chr2	190585463	190585463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatcaaagagctgtgaGagaacataaaggcctcccat	18	6	8	9	0	1	3	1	1	0	2	2	4	2	3	2	1	3	1	2	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190585463G>T	ENST00000520309.1	+	12	2673	c.2585G>T	c.(2584-2586)aGa>aTa	p.R862I	ANKAR_ENST00000431575.2_Missense_Mutation_p.R791I|ANKAR_ENST00000313581.4_Missense_Mutation_p.R862I|ANKAR_ENST00000438402.2_Missense_Mutation_p.R862I|ANKAR_ENST00000281412.6_Missense_Mutation_p.R626I	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	862						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AGAGCTGTGAGAGAACATAAA	0.313													T	190585463	G	T	190585463	3	4	364	1	0	0	0	0	1	0	0	0	623	942	33	4	2627	4	ANKAR	2	190585463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53479	190585463	52613910	2430	25932											
PMS1	5378	broad.mit.edu	37	chr2	190718693	190718693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcattacaatctgaaatGcctaaaggaatctactcgtt	15	12	5	9	1	3	1	1	1	2	0	4	2	3	2	1	1	3	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190718693G>A	ENST00000441310.2	+	8	1084	c.851G>A	c.(850-852)tGc>tAc	p.C284Y	PMS1_ENST00000409823.3_Missense_Mutation_p.C245Y|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.C108Y|PMS1_ENST00000418224.3_Missense_Mutation_p.C108Y|PMS1_ENST00000447232.2_Missense_Mutation_p.C284Y	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	284					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding	p.C284F(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			AATCTGAAATGCCTAAAGGAA	0.289			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					A	190718693	G	A	190718693	3	1	364	1	0	0	0	0	1	0	0	0	12219	1319	46	2	877	2	PMS1	2	190718693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133230	190718693	52480680	2431	25933											
PMS1	5378	broad.mit.edu	37	chr2	190719533	190719533	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattcagtgggagagaataTtgaacctgtgaaaattttag	16	12	10	3	0	1	3	1	2	0	1	1	5	1	4	1	1	1	0	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190719533T>C	ENST00000441310.2	+	9	1768	c.1535T>C	c.(1534-1536)aTt>aCt	p.I512T	PMS1_ENST00000409823.3_Missense_Mutation_p.I473T|PMS1_ENST00000421722.1_3'UTR|PMS1_ENST00000432292.3_Missense_Mutation_p.I336T|PMS1_ENST00000418224.3_Missense_Mutation_p.I336T|PMS1_ENST00000447232.2_Missense_Mutation_p.I512T	NM_000534.4	NP_000525.1	P54277	PMS1_HUMAN	PMS1 postmeiotic segregation increased 1 (S. cerevisiae)	512					mismatch repair|reciprocal meiotic recombination	MutLalpha complex	ATP binding|ATPase activity|mismatched DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(16)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			OV - Ovarian serous cystadenocarcinoma(117;0.0013)|Epithelial(96;0.0263)|all cancers(119;0.0751)			GGAGAGAATATTGAACCTGTG	0.343			"Mis, N"			"colorectal, endometrial, ovarian"		Direct reversal of damage;Mismatch excision repair (MMR)					C	190719533	T	C	190719533	3	2	364	1	0	0	0	0	1	0	0	0	12219	1493	52	3	1565	3	PMS1	2	190719533	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	840	190719533	52479840	2432	25934											
MSTN	2660	broad.mit.edu	37	chr2	190924926	190924926	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcttcacatcaatgctctgCcaaataccagtgcctgggtt	9	12	8	12	0	4	0	2	0	2	0	4	0	4	0	3	1	4	2	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190924926C>T	ENST00000260950.4	-	2	741	c.609G>A	c.(607-609)tgG>tgA	p.W203*	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	203					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CAATGCTCTGCCAAATACCAG	0.408													T	190924926	C	T	190924926	4	4	364	1	0	0	0	0	0	1	0	0	9969	740	26	2	526	2	MSTN	2	190924926	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205393	190924926	52274447	2433	25935											
MSTN	2660	broad.mit.edu	37	chr2	190926970	190926970	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgtaggcatggtaatgAttgtttccgttgtagcgtga	8	15	12	6	2	1	2	0	2	1	0	2	2	2	2	1	2	1	6	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:190926970A>C	ENST00000260950.4	-	1	485	c.353T>G	c.(352-354)aTc>aGc	p.I118S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	118					muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CATGGTAATGATTGTTTCCGT	0.428													C	190926970	A	C	190926970	3	2	364	1	0	0	0	0	1	0	0	0	9969	333	12	5	786	5	MSTN	2	190926970	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2044	190926970	52272403	2434	25936											
HIBCH	26275	broad.mit.edu	37	chr2	191116931	191116931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaattcctgctctgtacAcatctcttccttttagtctg	7	17	5	12	0	3	0	0	0	3	0	6	0	5	0	2	0	3	3	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191116931A>G	ENST00000392332.3	-	8	759	c.620T>C	c.(619-621)gTg>gCg	p.V207A	HIBCH_ENST00000359678.5_Missense_Mutation_p.V207A			Q6NVY1	HIBCH_HUMAN	3-hydroxyisobutyryl-CoA hydrolase	207					branched chain family amino acid catabolic process	mitochondrial matrix	3-hydroxyisobutyryl-CoA hydrolase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|lung(5)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	13			OV - Ovarian serous cystadenocarcinoma(117;0.000586)|Epithelial(96;0.0286)|all cancers(119;0.0814)			TGCTCTGTACACATCTCTTCC	0.388													G	191116931	A	G	191116931	3	3	364	1	0	0	0	0	1	0	0	0	7155	159	6	3	568	3	HIBCH	2	191116931	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189961	191116931	52082442	2435	25937											
GLS	2744	broad.mit.edu	37	chr2	191818290	191818290	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaactttcttttcttcacaGgtaaagtcagtgataaatct	13	16	5	7	0	5	1	2	1	3	0	5	1	5	1	0	1	1	1	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191818290G>T	ENST00000320717.3	+	15	1908		c.e15-1		GLS_ENST00000409428.1_Splice_Site	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase						cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTTCTTCACAGGTAAAGTCAG	0.403													T	191818290	G	T	191818290	5	4	364	1	0	0	0	0	0	0	1	0	6519	1014	35	4	1708	4	GLS	2	191818290	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701359	191818290	51381083	2436	25938											
STAT1	6772	broad.mit.edu	37	chr2	191848459	191848459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaccacaacgggcagaGaggtcgtctaaaggatgaca	15	5	12	9	2	2	3	1	1	1	2	3	5	2	4	1	3	1	1	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191848459G>T	ENST00000361099.3	-	17	1742	c.1355C>A	c.(1354-1356)tCt>tAt	p.S452Y	STAT1_ENST00000392323.2_Missense_Mutation_p.S454Y|STAT1_ENST00000409465.1_Missense_Mutation_p.S452Y|STAT1_ENST00000540176.1_3'UTR|STAT1_ENST00000392322.3_Missense_Mutation_p.S452Y	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	452					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	AACGGGCAGAGAGGTCGTCTA	0.493													T	191848459	G	T	191848459	3	4	364	1	0	0	0	0	1	0	0	0	15360	942	33	4	937	4	STAT1	2	191848459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30169	191848459	51350914	2437	25939											
STAT1	6772	broad.mit.edu	37	chr2	191862734	191862734	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attattttgtgaactacttcCtaaaggcaatagaagaaaca	17	12	6	6	0	0	3	0	1	0	2	1	3	1	3	1	1	3	1	1	1	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191862734C>T	ENST00000361099.3	-	9	1021		c.e9-1		STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000392322.3_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	GAACTACTTCCTAAAGGCAAT	0.313													T	191862734	C	T	191862734	5	4	364	1	0	0	0	0	0	0	1	0	15360	695	24	2	1691	2	STAT1	2	191862734	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14275	191862734	51336639	2438	25940											
STAT1	6772	broad.mit.edu	37	chr2	191874731	191874731	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtaccactgagacatcCtatagggaaaaagaatatac	16	9	8	8	1	0	2	0	1	0	2	2	4	1	3	2	1	2	2	2	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191874731C>A	ENST00000361099.3	-	3	387		c.e3-1		STAT1_ENST00000392323.2_Splice_Site|STAT1_ENST00000409465.1_Splice_Site|STAT1_ENST00000540176.1_Splice_Site|STAT1_ENST00000392322.3_Splice_Site	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa						activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	CTGAGACATCCTATAGGGAAA	0.393													A	191874731	C	A	191874731	5	1	364	1	0	0	0	0	0	0	1	0	15360	695	24	4	2349	4	STAT1	2	191874731	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11997	191874731	51324642	2439	25941											
STAT4	6775	broad.mit.edu	37	chr2	191897813	191897813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagtctcgcaggatgtcagCgaatggcagagcagacaacc	12	6	13	10	2	2	2	1	0	1	2	3	4	2	3	1	2	3	4	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191897813C>T	ENST00000392320.2	-	21	2229	c.1915G>A	c.(1915-1917)Gct>Act	p.A639T	STAT4_ENST00000358470.4_Missense_Mutation_p.A639T	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	639	SH2.				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGGATGTCAGCGAATGGCAGA	0.438													T	191897813	C	T	191897813	3	4	364	1	0	0	0	0	1	0	0	0	15363	768	27	1	347	1	STAT4	2	191897813	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23082	191897813	51301560	2440	25942											
STAT4	6775	broad.mit.edu	37	chr2	191929597	191929597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggcgatttgctgccgccGcttccagtcttgcagctctt	4	12	11	14	3	2	0	0	0	2	0	3	1	3	0	3	1	4	5	3	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:191929597G>A	ENST00000392320.2	-	8	1032	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	STAT4_ENST00000358470.4_Missense_Mutation_p.R240W	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	240					JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			TGCTGCCGCCGCTTCCAGTCT	0.488													A	191929597	G	A	191929597	3	1	364	1	0	0	0	0	1	0	0	0	15363	1086	38	1	1596	1	STAT4	2	191929597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31784	191929597	51269776	2441	25943											
SDPR	8436	broad.mit.edu	37	chr2	192701419	192701419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggctgtttcacaaacaCgctggcagggatctcatttt	10	11	10	10	2	2	0	2	0	1	0	3	1	2	1	0	3	2	4	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192701419C>T	ENST00000304141.4	-	2	837	c.508G>A	c.(508-510)Gtg>Atg	p.V170M		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	170						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	TTCACAAACACGCTGGCAGGG	0.488													T	192701419	C	T	192701419	3	4	364	1	0	0	0	0	1	0	0	0	14063	536	19	1	773	1	SDPR	2	192701419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	771822	192701419	50497954	2442	25944											
TMEFF2	23671	broad.mit.edu	37	chr2	192863836	192863836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttctcctgtttctgacacGatgcttctttgatttggcat	5	20	7	9	1	3	2	0	2	3	0	4	3	3	2	1	1	1	3	1	1	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:192863836G>A	ENST00000392314.1	-	6	1026	c.635C>T	c.(634-636)tCg>tTg	p.S212L	TMEFF2_ENST00000272771.5_Missense_Mutation_p.S212L|AC098617.1_ENST00000428980.2_RNA|TMEFF2_ENST00000487771.1_5'UTR|AC098617.1_ENST00000424116.2_RNA			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	212	Kazal-like 2.					extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			TTTCTGACACGATGCTTCTTT	0.378													A	192863836	G	A	192863836	3	1	364	1	0	0	0	0	1	0	0	0	16114	1059	37	1	509	1	TMEFF2	2	192863836	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162417	192863836	50335537	2443	25945											
SLC39A10	57181	broad.mit.edu	37	chr2	196544795	196544795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatatgcacacaaaattttGcctcatttgtttgctgacat	12	15	5	9	0	1	1	1	1	0	0	1	1	1	1	1	0	3	3	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196544795G>A	ENST00000409086.3	+	2	304	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	SLC39A10_ENST00000359634.5_Missense_Mutation_p.C10Y|SLC39A10_ENST00000541054.1_Intron	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	10					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			ACAAAATTTTGCCTCATTTGT	0.368													A	196544795	G	A	196544795	3	1	364	1	0	0	0	0	1	0	0	0	14707	1319	46	2	31	2	SLC39A10	2	196544795	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3680959	196544795	46654578	2444	25946											
DNAH7	56171	broad.mit.edu	37	chr2	196642621	196642621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatttgtttagaatgctgCgcagcgtgcgccggtcccag	8	10	13	10	4	0	2	0	0	0	2	1	2	1	2	2	1	4	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196642621C>T	ENST00000312428.6	-	59	11067	c.10967G>A	c.(10966-10968)cGc>cAc	p.R3656H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R139H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3656					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TAGAATGCTGCGCAGCGTGCG	0.468													T	196642621	C	T	196642621	3	4	364	1	0	0	0	0	1	0	0	0	4645	768	27	1	1135	1	DNAH7	2	196642621	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97826	196642621	46556752	2445	25947											
DNAH7	56171	broad.mit.edu	37	chr2	196651789	196651789	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgattctcagatctgtcTcattgaactcataaggaata	12	13	7	9	1	4	3	3	2	3	1	6	4	4	4	0	1	1	1	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196651789T>G	ENST00000312428.6	-	58	10923	c.10823A>C	c.(10822-10824)gAg>gCg	p.E3608A	DNAH7_ENST00000409063.1_Missense_Mutation_p.E91A	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3608	AAA 6 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGATCTGTCTCATTGAACTC	0.403													G	196651789	T	G	196651789	3	3	364	1	0	0	0	0	1	0	0	0	4645	1551	54	5	1283	5	DNAH7	2	196651789	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9168	196651789	46547584	2446	25948											
DNAH7	56171	broad.mit.edu	37	chr2	196674469	196674469	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgaaaacagtactgacCgcccgctcatgcagcagtag	14	6	9	12	2	1	2	1	2	0	0	1	2	1	2	2	0	4	5	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196674469C>T	ENST00000312428.6	-	52	9988	c.9888G>A	c.(9886-9888)gcG>gcA	p.A3296A		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3296					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CAGTACTGACCGCCCGCTCAT	0.328													T	196674469	C	T	196674469	5	4	364	1	0	0	0	0	0	0	1	0	4645	666	23	1	2242	1	DNAH7	2	196674469	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22680	196674469	46524904	2447	25949											
DNAH7	56171	broad.mit.edu	37	chr2	196681514	196681514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataggacgatagcccatgCgggtggtgtcaatctttttc	9	12	11	9	2	2	0	1	0	1	0	3	2	2	1	1	3	2	0	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196681514C>T	ENST00000312428.6	-	51	9699	c.9599G>A	c.(9598-9600)cGc>cAc	p.R3200H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3200					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R3200L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAGCCCATGCGGGTGGTGTC	0.438													T	196681514	C	T	196681514	3	4	364	1	0	0	0	0	1	0	0	0	4645	768	27	1	2535	1	DNAH7	2	196681514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7045	196681514	46517859	2448	25950											
DNAH7	56171	broad.mit.edu	37	chr2	196728882	196728882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgacaatacctgaaaccaGtcaatggtacagcagttaac	16	8	7	10	0	1	2	1	2	0	0	1	2	1	2	2	1	5	3	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196728882G>A	ENST00000312428.6	-	41	7597	c.7497C>T	c.(7495-7497)gaC>gaT	p.D2499D		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2499	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CCTGAAACCAGTCAATGGTAC	0.398													A	196728882	G	A	196728882	2	1	364	1	0	0	0	0	0	0	0	1	4645	1020	36	2		2	DNAH7	2	196728882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47368	196728882	46470491	2449	25951											
DNAH7	56171	broad.mit.edu	37	chr2	196729638	196729638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatccaaacgctgaaaaagCtcatgaaaatcttcatacat	19	9	4	9	1	3	2	2	2	1	0	4	2	4	2	1	0	3	2	1	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:196729638C>T	ENST00000312428.6	-	41	6841	c.6741G>A	c.(6739-6741)gaG>gaA	p.E2247E		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2247					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCTGAAAAAGCTCATGAAAAT	0.393													T	196729638	C	T	196729638	2	4	364	1	0	0	0	0	0	0	0	1	4645	796	28	2		2	DNAH7	2	196729638	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	756	196729638	46469735	2450	25952											
STK17B	9262	broad.mit.edu	37	chr2	197021347	197021347	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggccagtagattttgataTacattgtctaaccacagcaa	13	13	7	8	0	1	2	0	1	1	1	1	2	1	2	2	1	3	2	2	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197021347T>C	ENST00000263955.4	-	3	437	c.151A>G	c.(151-153)Ata>Gta	p.I51V	STK17B_ENST00000409228.1_Missense_Mutation_p.I51V	NM_004226.3	NP_004217.1	O94768	ST17B_HUMAN	serine/threonine kinase 17b	51	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(10)	15			OV - Ovarian serous cystadenocarcinoma(117;0.141)			GATTTTGATATACATTGTCTA	0.353													C	197021347	T	C	197021347	3	2	364	1	0	0	0	0	1	0	0	0	15387	1406	49	3	991	3	STK17B	2	197021347	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	291709	197021347	46178026	2451	25953											
HECW2	57520	broad.mit.edu	37	chr2	197081742	197081742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctcacctgtaacaacCttagtcgttgttcattgttg	8	15	8	10	1	2	0	2	0	1	0	4	0	2	0	2	1	2	5	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197081742C>A	ENST00000260983.3	-	27	4666	c.4484G>T	c.(4483-4485)aGg>aTg	p.R1495M	HECW2_ENST00000409111.1_Missense_Mutation_p.R1139M	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						CTGTAACAACCTTAGTCGTTG	0.333													A	197081742	C	A	197081742	3	1	364	1	0	0	0	0	1	0	0	0	7098	681	24	4	246	4	HECW2	2	197081742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60395	197081742	46117631	2452	25954											
HECW2	57520	broad.mit.edu	37	chr2	197106830	197106830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taacttccctgggccttgtcCatatcctttagtctctaact	7	16	5	13	0	1	0	0	0	1	0	5	0	4	0	4	1	2	0	4	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197106830C>T	ENST00000260983.3	-	20	3810	c.3628G>A	c.(3628-3630)Gga>Aga	p.G1210R	HECW2_ENST00000409111.1_Missense_Mutation_p.G854R	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGGCCTTGTCCATATCCTTTA	0.478													T	197106830	C	T	197106830	3	4	364	1	0	0	0	0	1	0	0	0	7098	603	21	2	1130	2	HECW2	2	197106830	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25088	197106830	46092543	2453	25955											
CCDC150	284992	broad.mit.edu	37	chr2	197511104	197511104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtccagaccggtcctttctCcaacccacatcaacgctaca	10	9	5	17	2	2	1	1	0	1	1	5	1	4	1	5	1	3	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511104C>T	ENST00000389175.4	+	2	187	c.52C>T	c.(52-54)Cca>Tca	p.P18S	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	18										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						GGTCCTTTCTCCAACCCACAT	0.418													T	197511104	C	T	197511104	3	4	364	1	0	0	0	0	1	0	0	0	2811	855	30	2	58	2	CCDC150	2	197511104	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404274	197511104	45688269	2454	25956											
CCDC150	284992	broad.mit.edu	37	chr2	197511119	197511119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctccaacccacatcaacGctacagcttctgaaacattc	12	11	3	15	1	3	1	1	1	2	0	5	1	3	1	2	0	5	2	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197511119G>A	ENST00000389175.4	+	2	202	c.67G>A	c.(67-69)Gct>Act	p.A23T	CCDC150_ENST00000272831.7_5'UTR|CCDC150_ENST00000423093.2_5'UTR|CCDC150_ENST00000472405.2_Intron	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	23										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						CCACATCAACGCTACAGCTTC	0.418													A	197511119	G	A	197511119	3	1	364	1	0	0	0	0	1	0	0	0	2811	1087	38	1	73	1	CCDC150	2	197511119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15	197511119	45688254	2455	25957											
PGAP1	80055	broad.mit.edu	37	chr2	197708653	197708653	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attagagaaggcatgctgagTaatacaatccatgttagtaa	16	11	9	5	0	0	2	0	1	0	1	1	3	1	2	1	1	2	5	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197708653T>C	ENST00000354764.4	-	25	2598	c.2484A>G	c.(2482-2484)ttA>ttG	p.L828L		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCATGCTGAGTAATACAATCC	0.348													C	197708653	T	C	197708653	2	2	364	1	0	0	0	0	0	0	0	1	11854	1635	57	3		3	PGAP1	2	197708653	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	197534	197708653	45490720	2456	25958											
ANKRD44	91526	broad.mit.edu	37	chr2	197990716	197990716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctgccagttcttgtcccTtgcattgacatcagctgagt	6	14	10	11	0	3	2	1	2	2	0	4	2	4	2	2	1	3	3	2	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:197990716T>C	ENST00000328737.2	-	5	308	c.232A>G	c.(232-234)Agg>Ggg	p.R78G	ANKRD44_ENST00000282272.8_Missense_Mutation_p.R95G|ANKRD44_ENST00000409919.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000337207.5_Missense_Mutation_p.R78G|ANKRD44_ENST00000450567.1_Missense_Mutation_p.R78G|ANKRD44_ENST00000409153.1_Missense_Mutation_p.R103G|ANKRD44_ENST00000539527.1_Missense_Mutation_p.R31G			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	103							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TTCTTGTCCCTTGCATTGACA	0.468													C	197990716	T	C	197990716	3	2	364	1	0	0	0	0	1	0	0	0	672	1608	56	3	2615	3	ANKRD44	2	197990716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	282063	197990716	45208657	2457	25959											
SF3B1	23451	broad.mit.edu	37	chr2	198265071	198265071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttatttaaacgccacaaaaCtgtaccacagatctgaggca	15	9	7	10	1	1	2	0	1	1	1	1	2	1	2	2	1	3	3	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198265071C>T	ENST00000335508.6	-	19	2897	c.2806G>A	c.(2806-2808)Gtt>Att	p.V936I		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CGCCACAAAACTGTACCACAG	0.403			Mis		myelodysplastic syndrome								T	198265071	C	T	198265071	3	4	364	1	0	0	0	0	1	0	0	0	14242	565	20	2	1136	2	SF3B1	2	198265071	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	274355	198265071	44934302	2458	25960											
SF3B1	23451	broad.mit.edu	37	chr2	198266178	198266178	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgccagaagtgtttaaaAaagggaggaagaatctctgt	14	10	12	5	0	1	2	0	0	1	2	2	4	1	4	1	2	2	2	1	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198266178A>C	ENST00000335508.6	-	17	2533	c.2442T>G	c.(2440-2442)ttT>ttG	p.F814L		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTTTAAAAAAGGGAGGAA	0.348			Mis		myelodysplastic syndrome								C	198266178	A	C	198266178	3	2	364	1	0	0	0	0	1	0	0	0	14242	11	1	5	1508	5	SF3B1	2	198266178	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1107	198266178	44933195	2459	25961											
SF3B1	23451	broad.mit.edu	37	chr2	198273264	198273264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatctccacctcgatctgTtcgaggagtctcagcccatc	9	10	8	14	2	3	1	1	0	3	1	8	4	3	2	3	1	1	1	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198273264T>C	ENST00000335508.6	-	8	1037	c.946A>G	c.(946-948)Aca>Gca	p.T316A		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with PPP1R8.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			CCTCGATCTGTTCGAGGAGTC	0.423			Mis		myelodysplastic syndrome								C	198273264	T	C	198273264	3	2	364	1	0	0	0	0	1	0	0	0	14242	1725	60	3	3040	3	SF3B1	2	198273264	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7086	198273264	44926109	2460	25962											
HSPD1	3329	broad.mit.edu	37	chr2	198358920	198358920	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatggagaaatatagcctcGatcaaacttcatgccttcaa	14	11	7	9	1	3	1	3	0	0	1	4	3	3	1	2	1	3	1	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198358920G>A	ENST00000388968.3	-	6	928	c.661C>T	c.(661-663)Cga>Tga	p.R221*	HSPD1_ENST00000345042.2_Nonsense_Mutation_p.R221*	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	221					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			ATATAGCCTCGATCAAACTTC	0.269													A	198358920	G	A	198358920	4	1	364	1	0	0	0	0	0	1	0	0	7486	1066	37	1	1088	1	HSPD1	2	198358920	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85656	198358920	44840453	2461	25963											
RFTN2	130132	broad.mit.edu	37	chr2	198480648	198480648	+	Frame_Shift_Del	DEL	C	C	-																															acacgcttgtcagaagccatCcgaattcagccagagtgtgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198480648delC	ENST00000295049.4	-	7	1642	c.1106delG	c.(1105-1107)ggafs	p.G369fs		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						CAGAAGCCATCCGAATTCAGC	0.398													-	198480648	C	-	198480648	7	5	364	1	0	1	0	1	0	0	0	0	13347	855	30	0	411	0	RFTN2	2	198480648	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	121728	198480648	44718725	2462	25964											
RFTN2	130132	broad.mit.edu	37	chr2	198508985	198508985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtccactgggtgctgccGaattctttgggctgtaacag	6	14	12	9	1	1	0	0	0	1	0	2	1	2	0	2	2	3	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198508985G>A	ENST00000295049.4	-	3	871	c.335C>T	c.(334-336)tCg>tTg	p.S112L		NM_144629.2	NP_653230.2	Q52LD8	RFTN2_HUMAN	raftlin family member 2							plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(13)|urinary_tract(3)	30						GGGTGCTGCCGAATTCTTTGG	0.453													A	198508985	G	A	198508985	3	1	364	1	0	0	0	0	1	0	0	0	13347	1059	37	1	1198	1	RFTN2	2	198508985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28337	198508985	44690388	2463	25965											
PLCL1	5334	broad.mit.edu	37	chr2	198948636	198948636	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccaaattctcgcatttacaAccgttttttcactctggaca	10	14	5	12	2	3	0	1	0	2	0	4	1	3	1	2	1	2	2	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198948636A>G	ENST00000428675.1	+	2	793	c.395A>G	c.(394-396)aAc>aGc	p.N132S	PLCL1_ENST00000437704.2_Missense_Mutation_p.N34S	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	132	Interaction with PPP1C.|PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	CGCATTTACAACCGTTTTTTC	0.443													G	198948636	A	G	198948636	3	3	364	1	0	0	0	0	1	0	0	0	12116	43	2	3	401	3	PLCL1	2	198948636	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	439651	198948636	44250737	2464	25966											
PLCL1	5334	broad.mit.edu	37	chr2	198949212	198949212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttacttgtacagatatCtaaaaacaaagaatatttgg	16	15	5	5	0	2	2	0	0	2	2	2	2	2	2	0	1	3	1	0	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198949212C>A	ENST00000428675.1	+	2	1369	c.971C>A	c.(970-972)tCt>tAt	p.S324Y	PLCL1_ENST00000437704.2_Missense_Mutation_p.S226Y	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	324					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTACAGATATCTAAAAACAAA	0.393													A	198949212	C	A	198949212	3	1	364	1	0	0	0	0	1	0	0	0	12116	913	32	4	977	4	PLCL1	2	198949212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	576	198949212	44250161	2465	25967											
PLCL1	5334	broad.mit.edu	37	chr2	198950953	198950953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagatatgagagaaaatatGcaggtaggagaaacactcac	19	7	10	5	0	1	4	1	1	0	3	1	6	1	4	0	2	2	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:198950953G>A	ENST00000428675.1	+	2	3110	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	PLCL1_ENST00000437704.2_Missense_Mutation_p.M806I	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	904					intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GAGAAAATATGCAGGTAGGAG	0.353													A	198950953	G	A	198950953	3	1	364	1	0	0	0	0	1	0	0	0	12116	1319	46	2	2718	2	PLCL1	2	198950953	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1741	198950953	44248420	2466	25968											
SPATS2L	26010	broad.mit.edu	37	chr2	201342573	201342573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccttggggatgaagacccCcgaggccccggcccattctg	6	8	12	15	2	1	2	0	1	1	1	2	4	2	3	6	4	0	0	6	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201342573C>T	ENST00000358677.5	+	13	1743	c.1496C>T	c.(1495-1497)cCc>cTc	p.P499L	SPATS2L_ENST00000460095.1_3'UTR|SPATS2L_ENST00000409755.3_Missense_Mutation_p.P529L|SPATS2L_ENST00000409151.1_Missense_Mutation_p.P507L|SPATS2L_ENST00000409140.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000409988.3_Missense_Mutation_p.P499L|SPATS2L_ENST00000451764.2_Missense_Mutation_p.P499L|SPATS2L_ENST00000360760.5_Missense_Mutation_p.P430L|SPATS2L_ENST00000409718.1_Missense_Mutation_p.P499L|SPATS2L_ENST00000409385.1_Missense_Mutation_p.P439L	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						ATGAAGACCCCCGAGGCCCCG	0.617													T	201342573	C	T	201342573	3	4	364	1	0	0	0	0	1	0	0	0	15116	623	22	2	1538	2	SPATS2L	2	201342573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2391620	201342573	41856800	2467	25969											
SGOL2	151246	broad.mit.edu	37	chr2	201434397	201434397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctttagggttccattaaCttcaaatgatgatgaagatg	12	14	9	6	0	1	4	1	3	0	1	2	4	2	4	2	1	2	1	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201434397C>A	ENST00000357799.4	+	6	583	c.485C>A	c.(484-486)aCt>aAt	p.T162N	SGOL2_ENST00000409203.3_Missense_Mutation_p.T162N	NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	162					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						GTTCCATTAACTTCAAATGAT	0.308													A	201434397	C	A	201434397	3	1	364	1	0	0	0	0	1	0	0	0	14310	565	20	4	503	4	SGOL2	2	201434397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91824	201434397	41764976	2468	25970											
AOX1	316	broad.mit.edu	37	chr2	201524722	201524722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaaaataatctctaggatgCctgtcaaactcttctaaaac	16	12	4	9	0	4	0	1	0	3	0	5	1	4	1	1	1	3	0	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201524722C>T	ENST00000374700.2	+	29	3546	c.3305C>T	c.(3304-3306)gCc>gTc	p.A1102V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1102					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTCTAGGATGCCTGTCAAACT	0.338													T	201524722	C	T	201524722	3	4	364	1	0	0	0	0	1	0	0	0	731	739	26	2	3419	2	AOX1	2	201524722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90325	201524722	41674651	2469	25971											
AOX1	316	broad.mit.edu	37	chr2	201531428	201531428	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatcagaacagacattGtcatggatgttggctgcagt	13	10	11	7	0	2	3	2	0	0	3	2	4	2	4	0	2	3	3	0	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201531428G>C	ENST00000374700.2	+	32	3803	c.3562G>C	c.(3562-3564)Gtc>Ctc	p.V1188L	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1188					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	AACAGACATTGTCATGGATGT	0.383													C	201531428	G	C	201531428	3	2	364	1	0	0	0	0	1	0	0	0	731	1377	48	4	3688	4	AOX1	2	201531428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6706	201531428	41667945	2470	25972											
CLK1	1195	broad.mit.edu	37	chr2	201722764	201722764	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgagcgagcagcttcacaGtatctatccacatttttaac	11	13	6	11	1	3	1	1	1	2	0	4	2	4	1	1	0	4	3	1	0	3	6	rs140826426	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201722764G>T	ENST00000434813.2	-	6	1057	c.723C>A	c.(721-723)taC>taA	p.Y241*	CLK1_ENST00000321356.4_Nonsense_Mutation_p.Y199*|CLK1_ENST00000409769.2_Nonsense_Mutation_p.Y22*	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	199	Protein kinase.				cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						CAGCTTCACAGTATCTATCCA	0.378													T	201722764	G	T	201722764	4	4	364	1	0	0	0	0	0	1	0	0	3567	1024	36	4	889	4	CLK1	2	201722764	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191336	201722764	41476609	2471	25973											
NIF3L1	60491	broad.mit.edu	37	chr2	201756936	201756936	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaggcagacctcattctCtcctaccatccgcctatctt	10	11	5	15	1	3	2	1	0	2	2	6	2	5	2	5	1	1	1	5	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201756936C>A	ENST00000409020.1	+	2	564	c.270C>A	c.(268-270)ctC>ctA	p.L90L	NIF3L1_ENST00000359683.4_Silent_p.L63L|NIF3L1_ENST00000409588.1_Silent_p.L90L|NIF3L1_ENST00000416651.1_Silent_p.L90L|NIF3L1_ENST00000409357.1_Silent_p.L90L			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	90					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						ACCTCATTCTCTCCTACCATC	0.522													A	201756936	C	A	201756936	2	1	364	1	0	0	0	0	0	0	0	1	10492	900	32	4		4	NIF3L1	2	201756936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34172	201756936	41442437	2472	25974											
FAM126B	285172	broad.mit.edu	37	chr2	201846100	201846100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgccagcttgacctagccGgtcttcctgcagactgacag	7	10	10	14	2	1	3	0	2	1	1	3	3	2	3	4	1	3	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201846100G>A	ENST00000418596.3	-	12	1673	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						TGACCTAGCCGGTCTTCCTGC	0.512													A	201846100	G	A	201846100	3	1	364	1	0	0	0	0	1	0	0	0	5475	1115	39	1	110	1	FAM126B	2	201846100	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89164	201846100	41353273	2473	25975											
FAM126B	285172	broad.mit.edu	37	chr2	201887581	201887581	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaatcttgaataactttAtagagggctggtacaagtgt	12	15	10	4	0	1	3	0	2	1	1	1	3	1	3	0	2	2	2	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:201887581A>G	ENST00000418596.3	-	4	313	c.126T>C	c.(124-126)taT>taC	p.Y42Y	FAM126B_ENST00000485144.1_5'UTR	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						GAATAACTTTATAGAGGGCTG	0.333													G	201887581	A	G	201887581	2	3	364	1	0	0	0	0	0	0	0	1	5475	456	16	3		3	FAM126B	2	201887581	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	41481	201887581	41311792	2474	25976											
CFLAR	8837	broad.mit.edu	37	chr2	202025238	202025238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatggtatatcccagattCttggccaatttgcctgtatg	8	15	9	9	0	1	1	0	0	1	1	2	1	2	1	3	2	2	3	3	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202025238C>A	ENST00000309955.3	+	9	1392	c.877C>A	c.(877-879)Ctt>Att	p.L293I	CFLAR_ENST00000355558.4_Intron|CFLAR_ENST00000443227.1_Missense_Mutation_p.L197I|CFLAR_ENST00000479953.2_Missense_Mutation_p.L197I|CFLAR_ENST00000457277.1_Missense_Mutation_p.L293I|CFLAR_ENST00000340870.5_Missense_Mutation_p.L293I|CFLAR_ENST00000341582.6_Missense_Mutation_p.L258I|CFLAR_ENST00000423241.2_Missense_Mutation_p.L293I	NM_001202515.1|NM_003879.5	NP_001189444.1|NP_003870.4	O15519	CFLAR_HUMAN	CASP8 and FADD-like apoptosis regulator		Caspase.|Interaction with TRAF1 and TRAF2.|Interaction with caspase-3.|Interaction with caspase-8 propeptide.|Interaction with caspase-8 subunits p18 and p10.|Not proteolytically processed and involved in apoptosis inhibition.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis		cysteine-type endopeptidase activity|protein binding	p.L293V(1)|p.L293I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|stomach(1)	13						ATCCCAGATTCTTGGCCAATT	0.498													A	202025238	C	A	202025238	3	1	364	1	0	0	0	0	1	0	0	0	3322	913	32	4	971	4	CFLAR	2	202025238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137657	202025238	41174135	2475	25977											
CASP10	843	broad.mit.edu	37	chr2	202082435	202082435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taaggaaaaaactagtattcCctgtgcccctggatgcactt	12	11	8	10	0	0	0	0	0	0	0	1	2	1	2	3	2	3	2	3	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202082435C>A	ENST00000286186.6	+	10	1975	c.1540C>A	c.(1540-1542)Cct>Act	p.P514T	CASP10_ENST00000448480.1_Intron|CASP10_ENST00000313728.7_Missense_Mutation_p.P447T|CASP10_ENST00000492363.1_3'UTR|CASP10_ENST00000272879.5_Intron|CASP10_ENST00000346817.5_Missense_Mutation_p.P471T|CASP10_ENST00000360132.3_3'UTR	NM_032977.3	NP_116759.2	Q92851	CASPA_HUMAN	caspase 10, apoptosis-related cysteine peptidase	0					apoptosis|induction of apoptosis by extracellular signals|proteolysis	cytosol|plasma membrane	cysteine-type endopeptidase activity|identical protein binding|protein binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27						ACTAGTATTCCCTGTGCCCCT	0.468													A	202082435	C	A	202082435	3	1	364	1	0	0	0	0	1	0	0	0	2695	623	22	4	1574	4	CASP10	2	202082435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57197	202082435	41116938	2476	25978											
ALS2CR12	130540	broad.mit.edu	37	chr2	202153498	202153498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattcttagaaattatCttttgcctgtaaaaagaaag	14	16	5	6	0	4	2	1	0	3	2	4	2	4	2	1	0	1	1	1	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202153498C>A	ENST00000405148.2	-	15	1661	c.1218G>T	c.(1216-1218)aaG>aaT	p.K406N	ALS2CR12_ENST00000286190.5_Missense_Mutation_p.K406N|ALS2CR12_ENST00000392257.3_Missense_Mutation_p.K383N|ALS2CR12_ENST00000439709.1_Missense_Mutation_p.K383N	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	406					regulation of GTPase activity		protein binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						TAGAAATTATCTTTTGCCTGT	0.378													A	202153498	C	A	202153498	3	1	364	1	0	0	0	0	1	0	0	0	553	912	32	4	123	4	ALS2CR12	2	202153498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71063	202153498	41045875	2477	25979											
ALS2CR12	130540	broad.mit.edu	37	chr2	202172323	202172323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttctcctgactccatttcGaattttttggtcatcttttt	5	22	4	10	1	4	1	1	1	3	0	7	2	5	1	2	1	0	0	2	1	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202172323G>A	ENST00000405148.2	-	11	1241	c.798C>T	c.(796-798)ttC>ttT	p.F266F	ALS2CR12_ENST00000286190.5_Silent_p.F266F|ALS2CR12_ENST00000392257.3_Silent_p.F266F|ALS2CR12_ENST00000439709.1_Silent_p.F266F	NM_139163.2	NP_631902.2	Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	266					regulation of GTPase activity		protein binding	p.F266F(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						ACTCCATTTCGAATTTTTTGG	0.383													A	202172323	G	A	202172323	2	1	364	1	0	0	0	0	0	0	0	1	553	1049	37	1		1	ALS2CR12	2	202172323	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18825	202172323	41027050	2478	25980											
TRAK2	66008	broad.mit.edu	37	chr2	202254547	202254547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaaagagagaagattcCtcatccaaactcagcttttt	13	14	6	8	0	2	3	2	0	0	3	4	4	4	3	2	0	2	2	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202254547C>A	ENST00000332624.3	-	11	1598	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	390	Interaction with HGS (By similarity).			Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAAGATTCCTCATCCAAAC	0.368													A	202254547	C	A	202254547	3	1	364	1	0	0	0	0	1	0	0	0	16551	680	24	4	1598	4	TRAK2	2	202254547	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82224	202254547	40944826	2479	25981											
TRAK2	66008	broad.mit.edu	37	chr2	202257753	202257753	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagacactccatattcctgTcttgtaactcgtgcagctaa	10	13	6	12	1	1	1	0	0	1	1	4	1	3	1	2	0	3	3	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202257753T>C	ENST00000332624.3	-	10	1420	c.992A>G	c.(991-993)gAc>gGc	p.D331G		NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	331				Missing (in Ref. 2).		early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						CATATTCCTGTCTTGTAACTC	0.398													C	202257753	T	C	202257753	3	2	364	1	0	0	0	0	1	0	0	0	16551	1667	58	3	1780	3	TRAK2	2	202257753	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3206	202257753	40941620	2480	25982											
TRAK2	66008	broad.mit.edu	37	chr2	202272173	202272173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactggagagagagcatcaGatgcatgctgccgctggtgt	9	8	16	8	1	1	3	1	0	0	3	1	6	1	4	1	3	4	4	1	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202272173G>T	ENST00000332624.3	-	3	667	c.239C>A	c.(238-240)tCt>tAt	p.S80Y	TRAK2_ENST00000430254.1_Missense_Mutation_p.S80Y	NM_015049.2	NP_055864.2	O60296	TRAK2_HUMAN	trafficking protein, kinesin binding 2	80						early endosome|plasma membrane	GABA receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	23						GAGAGCATCAGATGCATGCTG	0.403													T	202272173	G	T	202272173	3	4	364	1	0	0	0	0	1	0	0	0	16551	942	33	4	2561	4	TRAK2	2	202272173	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14420	202272173	40927200	2481	25983											
STRADB	55437	broad.mit.edu	37	chr2	202343240	202343240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacacagtaaatagtgaccGattacacacaccatcctcaa	16	8	4	13	1	2	1	2	1	0	0	3	2	3	1	3	0	1	1	3	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202343240G>A	ENST00000194530.3	+	10	1351	c.986G>A	c.(985-987)cGa>cAa	p.R329Q	STRADB_ENST00000392249.2_Missense_Mutation_p.R329Q	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	329	Protein kinase.				activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						AATAGTGACCGATTACACACA	0.418													A	202343240	G	A	202343240	3	1	364	1	0	0	0	0	1	0	0	0	15421	1058	37	1	1020	1	STRADB	2	202343240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71067	202343240	40856133	2482	25984											
ALS2CR11	151254	broad.mit.edu	37	chr2	202412287	202412287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaatagttagctttatCtatccatgtattcagatttc	11	19	4	7	0	3	1	1	0	2	1	5	1	4	1	1	0	1	3	1	0	7	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202412287C>A	ENST00000439140.1	-	10	1068	c.1024G>T	c.(1024-1026)Gat>Tat	p.D342Y	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.D342Y|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.D342Y	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	342										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TTAGCTTTATCTATCCATGTA	0.269													A	202412287	C	A	202412287	3	1	364	1	0	0	0	0	1	0	0	0	552	913	32	4	4613	4	ALS2CR11	2	202412287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69047	202412287	40787086	2483	25985											
ALS2CR11	151254	broad.mit.edu	37	chr2	202467966	202467966	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttaggcataaaatgtctGcagttctttatatgaatgcc	11	15	7	8	0	3	1	0	1	3	0	3	1	3	1	1	1	2	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202467966G>A	ENST00000439140.1	-	3	395	c.351C>T	c.(349-351)tgC>tgT	p.C117C	ALS2CR11_ENST00000439802.1_Silent_p.C117C|ALS2CR11_ENST00000450242.1_Silent_p.C117C|ALS2CR11_ENST00000286195.3_Silent_p.C117C	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	117										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						TAAAATGTCTGCAGTTCTTTA	0.333													A	202467966	G	A	202467966	2	1	364	1	0	0	0	0	0	0	0	1	552	1311	46	2		2	ALS2CR11	2	202467966	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55679	202467966	40731407	2484	25986											
ALS2CR11	151254	broad.mit.edu	37	chr2	202483717	202483717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagggaccgaagaagcctccGaccctttaatgtgcatgata	13	8	10	10	2	0	2	0	1	0	1	1	5	1	3	4	1	2	1	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202483717G>A	ENST00000439140.1	-	1	181	c.137C>T	c.(136-138)tCg>tTg	p.S46L	ALS2CR11_ENST00000439802.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.S46L|ALS2CR11_ENST00000286195.3_Missense_Mutation_p.S46L	NM_001168221.1	NP_001161693.1	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	46										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						AGAAGCCTCCGACCCTTTAAT	0.602													A	202483717	G	A	202483717	3	1	364	1	0	0	0	0	1	0	0	0	552	1059	37	1	5536	1	ALS2CR11	2	202483717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15751	202483717	40715656	2485	25987											
MPP4	58538	broad.mit.edu	37	chr2	202549852	202549852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccctgtcatctcgtggCgcttgatggtggctccctga	3	13	12	13	2	2	2	1	2	1	0	5	2	4	2	3	3	0	2	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202549852C>T	ENST00000409474.3	-	7	716	c.509G>A	c.(508-510)cGc>cAc	p.R170H	MPP4_ENST00000359962.5_Missense_Mutation_p.R170H|MPP4_ENST00000428900.2_Missense_Mutation_p.R170H|MPP4_ENST00000315506.7_Missense_Mutation_p.R170H|MPP4_ENST00000409143.1_Missense_Mutation_p.R143H|MPP4_ENST00000447335.2_Missense_Mutation_p.R170H|MPP4_ENST00000396886.3_Missense_Mutation_p.R126H	NM_033066.2	NP_149055	Q96JB8	MPP4_HUMAN	membrane protein, palmitoylated 4 (MAGUK p55 subfamily member 4)	170	PDZ.					cytoplasm	protein binding			kidney(1)|lung(11)	12						CATCTCGTGGCGCTTGATGGT	0.547													T	202549852	C	T	202549852	3	4	364	1	0	0	0	0	1	0	0	0	9812	768	27	1	1468	1	MPP4	2	202549852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66135	202549852	40649521	2486	25988											
ALS2	57679	broad.mit.edu	37	chr2	202569277	202569278	+	Frame_Shift_Ins	INS	-	-	A																															acactctgagagatctcctcINSaaaagtctgctggatgacct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202569277_202569278insA	ENST00000264276.6	-	32	5109_5110	c.4737_4738insT	c.(4735-4740)tttgagfs	p.E1580fs	ALS2_ENST00000457679.2_3'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	1580	VPS9.				cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GAGATCTCCTCAAAAGTCTGCT	0.426													A	202569278	-	A	202569277	7	5	364	1	0	1	1	0	0	0	0	0	550	835	29	0	247	0	ALS2	2	202569277	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	19425	202569277	40630096	2487	25989											
ALS2	57679	broad.mit.edu	37	chr2	202622249	202622249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttaacctgttcttccctGctatctttcaaaccttcggg	6	17	6	12	1	3	0	1	0	2	0	5	0	4	0	3	1	3	3	3	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202622249G>A	ENST00000264276.6	-	5	1719	c.1347C>T	c.(1345-1347)agC>agT	p.S449S		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	449					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						GTTCTTCCCTGCTATCTTTCA	0.438													A	202622249	G	A	202622249	2	1	364	1	0	0	0	0	0	0	0	1	550	1310	46	2		2	ALS2	2	202622249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52972	202622249	40577124	2488	25990											
FZD7	8324	broad.mit.edu	37	chr2	202900121	202900121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaaggaggaggagaggCgcttcgcccgcctctgggtg	7	8	16	10	3	1	1	0	0	1	1	2	4	1	3	2	5	0	1	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900121C>T	ENST00000286201.1	+	1	812	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	251					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GGAGGAGAGGCGCTTCGCCCG	0.657											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	202900121	C	T	202900121	3	4	364	1	0	0	0	0	1	0	0	0	6187	768	27	1	753	1	FZD7	2	202900121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277872	202900121	40299252	2489	25991											
FZD7	8324	broad.mit.edu	37	chr2	202900492	202900492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtggggccacgaggccatCgaggccaactcgcagtactt	10	6	13	12	3	0	0	0	0	0	0	2	2	0	0	3	4	2	2	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:202900492C>T	ENST00000286201.1	+	1	1183	c.1122C>T	c.(1120-1122)atC>atT	p.I374I		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	374					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						ACGAGGCCATCGAGGCCAACT	0.632											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	202900492	C	T	202900492	2	4	364	1	0	0	0	0	0	0	0	1	6187	874	31	1		1	FZD7	2	202900492	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371	202900492	40298881	2490	25992											
FAM117B	150864	broad.mit.edu	37	chr2	203589718	203589718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcttggggcagtacaGatcaacttaaggaggtcaga	13	8	12	8	0	3	2	2	0	1	2	3	3	3	3	0	4	3	3	0	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203589718G>T	ENST00000303116.6	+	3	842	c.100G>T	c.(100-102)Gat>Tat	p.D34Y	FAM117B_ENST00000392238.2_Missense_Mutation_p.D278Y	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	278	Gly-rich.									breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						GGGCAGTACAGATCAACTTAA	0.423													T	203589718	G	T	203589718	3	4	364	1	0	0	0	0	1	0	0	0	5455	942	33	4	842	4	FAM117B	2	203589718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	689226	203589718	39609655	2491	25993											
FAM117B	150864	broad.mit.edu	37	chr2	203630268	203630268	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctttctgcctcgtcagcatCctcaagccactccttcctac	6	12	5	18	1	3	0	2	0	1	0	7	0	6	0	5	0	4	2	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203630268C>A	ENST00000303116.6	+	8	1561	c.819C>A	c.(817-819)atC>atA	p.I273I	FAM117B_ENST00000392238.2_Silent_p.I517I	NM_173511.3	NP_775782.2	Q6P1L5	F117B_HUMAN	family with sequence similarity 117, member B	517										breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)	17						TCGTCAGCATCCTCAAGCCAC	0.498													A	203630268	C	A	203630268	2	1	364	1	0	0	0	0	0	0	0	1	5455	845	30	4		4	FAM117B	2	203630268	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40550	203630268	39569105	2492	25994											
WDR12	55759	broad.mit.edu	37	chr2	203760929	203760929	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaagcactcaataataaGcaggacaaactatctggaga	19	7	8	7	0	2	2	1	0	1	2	2	4	2	3	0	2	3	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:203760929G>A	ENST00000261015.4	-	6	1217	c.468C>T	c.(466-468)tgC>tgT	p.C156C		NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12		Sufficient for nucleolar localization.				cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						TCAATAATAAGCAGGACAAAC	0.363													A	203760929	G	A	203760929	2	1	364	1	0	0	0	0	0	0	0	1	17376	963	34	2		2	WDR12	2	203760929	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130661	203760929	39438444	2493	25995											
NBEAL1	65065	broad.mit.edu	37	chr2	204000598	204000599	+	Frame_Shift_Ins	INS	-	-	A																															taccaagaagaactctgatgINSaaaaaacagatgaggaaaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204000598_204000599insA	ENST00000449802.1	+	27	4258_4259	c.3925_3926insA	c.(3925-3927)gaafs	p.E1309fs		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1309							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						GAACTCTGATGAAAAAACAGAT	0.361													A	204000599	-	A	204000598	7	5	364	1	0	1	1	0	0	0	0	0	10264	1291	45	0	4027	0	NBEAL1	2	204000598	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	239669	204000598	39198775	2494	25996											
NBEAL1	65065	broad.mit.edu	37	chr2	204001395	204001395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaagggactagaaaagtCtgatgatgatacttggattg	13	12	13	3	0	1	4	0	3	1	1	1	6	1	6	0	2	1	1	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204001395C>A	ENST00000449802.1	+	28	4709	c.4376C>A	c.(4375-4377)tCt>tAt	p.S1459Y		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1459							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTAGAAAAGTCTGATGATGAT	0.333													A	204001395	C	A	204001395	3	1	364	1	0	0	0	0	1	0	0	0	10264	913	32	4	4482	4	NBEAL1	2	204001395	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	797	204001395	39197978	2495	25997											
CYP20A1	57404	broad.mit.edu	37	chr2	204143395	204143395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactccttagtacaagggaAccttaatgaccaacaggtga	14	9	9	9	0	0	3	0	3	0	0	1	4	1	4	3	2	3	1	3	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204143395A>G	ENST00000356079.4	+	7	902	c.779A>G	c.(778-780)aAc>aGc	p.N260S	CYP20A1_ENST00000461371.1_3'UTR|CYP20A1_ENST00000429815.2_Missense_Mutation_p.N268S	NM_177538.2	NP_803882.1	Q6UW02	CP20A_HUMAN	cytochrome P450, family 20, subfamily A, polypeptide 1	260						integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			cervix(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	11						GTACAAGGGAACCTTAATGAC	0.388													G	204143395	A	G	204143395	3	3	364	1	0	0	0	0	1	0	0	0	4185	43	2	3	805	3	CYP20A1	2	204143395	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142000	204143395	39055978	2496	25998											
ABI2	10152	broad.mit.edu	37	chr2	204245034	204245034	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattattgctccagccaaccTtgaacgaccagttcgttata	11	12	7	11	2	0	1	0	1	0	0	2	3	1	1	4	0	4	3	4	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204245034T>A	ENST00000295851.5	+	3	685	c.389T>A	c.(388-390)cTt>cAt	p.L130H	ABI2_ENST00000422511.2_Missense_Mutation_p.L130H|ABI2_ENST00000430574.1_3'UTR|ABI2_ENST00000430418.1_Missense_Mutation_p.L130H|ABI2_ENST00000424558.1_Missense_Mutation_p.L130H|ABI2_ENST00000261017.5_Missense_Mutation_p.L130H|ABI2_ENST00000261016.6_Missense_Mutation_p.L85H	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						CCAGCCAACCTTGAACGACCA	0.318													A	204245034	T	A	204245034	3	1	364	1	0	0	0	0	1	0	0	0	89	1609	56	5	399	5	ABI2	2	204245034	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101639	204245034	38954339	2497	25999											
ABI2	10152	broad.mit.edu	37	chr2	204255867	204255867	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagggaaagggacacttggGtgagtatataagtagtaatt	14	11	13	3	0	1	1	1	1	0	0	1	3	1	3	0	3	0	3	0	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204255867G>A	ENST00000295851.5	+	5	874		c.e5+1		ABI2_ENST00000422511.2_Splice_Site|ABI2_ENST00000430574.1_Splice_Site|ABI2_ENST00000430418.1_Splice_Site|ABI2_ENST00000424558.1_Splice_Site|ABI2_ENST00000261017.5_Splice_Site|ABI2_ENST00000261018.7_Splice_Site|ABI2_ENST00000261016.6_Splice_Site	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						GGACACTTGGGTGAGTATATA	0.398													A	204255867	G	A	204255867	5	1	364	1	0	0	0	0	0	0	1	0	89	1275	44	2	575	2	ABI2	2	204255867	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10833	204255867	38943506	2498	26000											
CD28	940	broad.mit.edu	37	chr2	204599533	204599533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaagaggagcaggctcctGcacagtgactacatgaacat	14	7	11	9	0	0	3	0	2	0	1	1	4	1	4	1	2	4	4	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:204599533G>A	ENST00000324106.8	+	4	710	c.561G>A	c.(559-561)ctG>ctA	p.L187L	CD28_ENST00000374478.4_Silent_p.L68L|CD28_ENST00000458610.2_Silent_p.L201L|CD28_ENST00000374481.3_Silent_p.L103L	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						GCAGGCTCCTGCACAGTGACT	0.567													A	204599533	G	A	204599533	2	1	364	1	0	0	0	0	0	0	0	1	3023	1306	46	2		2	CD28	2	204599533	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	343666	204599533	38599840	2499	26001											
PARD3B	117583	broad.mit.edu	37	chr2	205983694	205983694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacaacagcaggtccaagCgggagggactatttcacgaa	15	5	12	9	2	1	1	1	0	0	1	2	4	2	3	1	3	3	1	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:205983694C>T	ENST00000406610.2	+	7	937	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	PARD3B_ENST00000349953.3_Missense_Mutation_p.R244W|PARD3B_ENST00000351153.1_Missense_Mutation_p.R244W|PARD3B_ENST00000358768.2_Missense_Mutation_p.R244W|PARD3B_ENST00000462231.1_Missense_Mutation_p.R244W	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	244	PDZ 1.				cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		CAGGTCCAAGCGGGAGGGACT	0.333													T	205983694	C	T	205983694	3	4	364	1	0	0	0	0	1	0	0	0	11520	759	27	1	756	1	PARD3B	2	205983694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1384161	205983694	37215679	2500	26002											
PARD3B	117583	broad.mit.edu	37	chr2	206166242	206166242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagctctgaattgtgagtCtgcccctcaggggaattcgg	8	10	14	9	1	3	2	1	2	2	0	4	4	3	4	2	4	2	1	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206166242C>T	ENST00000406610.2	+	18	2654	c.2447C>T	c.(2446-2448)tCt>tTt	p.S816F	PARD3B_ENST00000349953.3_Missense_Mutation_p.S816F|PARD3B_ENST00000351153.1_Missense_Mutation_p.S747F|PARD3B_ENST00000358768.2_Missense_Mutation_p.S754F|PARD3B_ENST00000462231.1_Missense_Mutation_p.S816F	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	816					cell cycle|cell division	endomembrane system|tight junction				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		AATTGTGAGTCTGCCCCTCAG	0.453													T	206166242	C	T	206166242	3	4	364	1	0	0	0	0	1	0	0	0	11520	913	32	2	2517	2	PARD3B	2	206166242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182548	206166242	37033131	2501	26003											
NRP2	8828	broad.mit.edu	37	chr2	206605345	206605345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctcagacctggcactcaGgtatcgccctccggctggag	6	7	12	16	2	2	1	2	0	0	1	4	2	3	2	4	4	0	3	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206605345G>T	ENST00000360409.3	+	8	2040	c.1249G>T	c.(1249-1251)Ggt>Tgt	p.G417C	NRP2_ENST00000357785.5_Missense_Mutation_p.G417C|NRP2_ENST00000412873.2_Missense_Mutation_p.G417C|NRP2_ENST00000272849.3_Missense_Mutation_p.G417C|NRP2_ENST00000540178.1_Missense_Mutation_p.G417C|NRP2_ENST00000357118.4_Missense_Mutation_p.G417C|NRP2_ENST00000417189.1_Missense_Mutation_p.G417C|NRP2_ENST00000355117.4_Missense_Mutation_p.G417C|NRP2_ENST00000540841.1_Missense_Mutation_p.G417C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	417	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CTGGCACTCAGGTATCGCCCT	0.582													T	206605345	G	T	206605345	3	4	364	1	0	0	0	0	1	0	0	0	10737	1000	35	4	1279	4	NRP2	2	206605345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	439103	206605345	36594028	2502	26004											
NRP2	8828	broad.mit.edu	37	chr2	206614470	206614470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagcccacggtagagaCgctgggacccactgtgaaga	11	5	12	13	2	0	3	0	1	0	2	1	5	1	4	3	2	1	2	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206614470C>T	ENST00000360409.3	+	11	2599	c.1808C>T	c.(1807-1809)aCg>aTg	p.T603M	NRP2_ENST00000357785.5_Missense_Mutation_p.T603M|NRP2_ENST00000412873.2_Missense_Mutation_p.T603M|NRP2_ENST00000272849.3_Missense_Mutation_p.T603M|NRP2_ENST00000540178.1_Missense_Mutation_p.T603M|NRP2_ENST00000357118.4_Missense_Mutation_p.T603M|NRP2_ENST00000540841.1_Missense_Mutation_p.T603M	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	603					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.T603M(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						ACGGTAGAGACGCTGGGACCC	0.552													T	206614470	C	T	206614470	3	4	364	1	0	0	0	0	1	0	0	0	10737	536	19	1	1877	1	NRP2	2	206614470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9125	206614470	36584903	2503	26005											
NRP2	8828	broad.mit.edu	37	chr2	206659519	206659519	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattcttcttctgcaaccTcagggtctggcgccccctcg	5	11	9	16	2	5	0	1	0	4	0	6	0	5	0	3	2	2	2	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206659519T>A	ENST00000360409.3	+	17	3324	c.2533T>A	c.(2533-2535)Tca>Aca	p.S845T	NRP2_ENST00000357785.5_Missense_Mutation_p.S840T|NRP2_ENST00000412873.2_Missense_Mutation_p.S823T|NRP2_ENST00000540178.1_Missense_Mutation_p.S840T|NRP2_ENST00000540841.1_Missense_Mutation_p.S823T	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	845					angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TTCTGCAACCTCAGGGTCTGG	0.527													A	206659519	T	A	206659519	3	1	364	1	0	0	0	0	1	0	0	0	10737	1551	54	5	2911	5	NRP2	2	206659519	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45049	206659519	36539854	2504	26006											
INO80D	54891	broad.mit.edu	37	chr2	206872026	206872026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaaaaaaatcaaaatCttgtaagtcatcaggtagcc	17	10	5	9	0	5	0	4	0	1	0	5	0	5	0	2	1	1	2	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:206872026C>A	ENST00000403263.1	-	10	2304	c.1900G>T	c.(1900-1902)Gat>Tat	p.D634Y		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	634					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						AAATCAAAATCTTGTAAGTCA	0.353													A	206872026	C	A	206872026	3	1	364	1	0	0	0	0	1	0	0	0	7807	913	32	4	1191	4	INO80D	2	206872026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212507	206872026	36327347	2505	26007											
NDUFS1	4719	broad.mit.edu	37	chr2	207006690	207006690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaattctagcattaaacaGtggtgcctcaaaacgtgggt	12	11	10	8	2	2	0	1	0	1	0	3	1	2	0	1	2	4	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207006690G>A	ENST00000233190.6	-	12	1503	c.1237C>T	c.(1237-1239)Ctg>Ttg	p.L413L	NDUFS1_ENST00000423725.1_Silent_p.L356L|NDUFS1_ENST00000440274.1_Silent_p.L377L|NDUFS1_ENST00000449699.1_Silent_p.L413L|NDUFS1_ENST00000455934.2_Silent_p.L427L|NDUFS1_ENST00000432169.1_Silent_p.L302L|NDUFS1_ENST00000457011.1_Silent_p.L297L	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATTAAACAGTGGTGCCTCA	0.328													A	207006690	G	A	207006690	2	1	364	1	0	0	0	0	0	0	0	1	10367	1020	36	2		2	NDUFS1	2	207006690	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134664	207006690	36192683	2506	26008											
NDUFS1	4719	broad.mit.edu	37	chr2	207017192	207017192	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacagactgaccatcaacaAatacttcaatcaagttgctt	15	11	5	10	0	3	3	3	2	0	1	3	3	3	3	1	0	3	2	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207017192A>T	ENST00000233190.6	-	3	370	c.104T>A	c.(103-105)tTt>tAt	p.F35Y	NDUFS1_ENST00000423725.1_Intron|NDUFS1_ENST00000440274.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000449699.1_Missense_Mutation_p.F35Y|NDUFS1_ENST00000455934.2_Missense_Mutation_p.F49Y|NDUFS1_ENST00000432169.1_Intron|NDUFS1_ENST00000457011.1_Intron	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)		2Fe-2S ferredoxin-type.				apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	ACCATCAACAAATACTTCAAT	0.383													T	207017192	A	T	207017192	3	4	364	1	0	0	0	0	1	0	0	0	10367	14	1	5	2147	5	NDUFS1	2	207017192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10502	207017192	36182181	2507	26009											
EEF1B2	1933	broad.mit.edu	37	chr2	207027218	207027218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttattgtttttagaacctGcacttgttgccaagtcttcc	7	18	7	9	0	1	1	0	0	1	1	2	1	2	1	3	0	3	4	3	0	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207027218G>A	ENST00000392222.2	+	5	778	c.403G>A	c.(403-405)Gca>Aca	p.A135T	EEF1B2_ENST00000392221.1_Missense_Mutation_p.A135T|EEF1B2_ENST00000236957.5_Missense_Mutation_p.A135T	NM_001959.3	NP_001950.1	P24534	EF1B_HUMAN	eukaryotic translation elongation factor 1 beta 2	135						cytosol|eukaryotic translation elongation factor 1 complex	protein binding|translation elongation factor activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(6)	16						TTTAGAACCTGCACTTGTTGC	0.368													A	207027218	G	A	207027218	3	1	364	1	0	0	0	0	1	0	0	0	4964	1319	46	2	421	2	EEF1B2	2	207027218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10026	207027218	36172155	2508	26010											
GPR1	2825	broad.mit.edu	37	chr2	207041404	207041404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcatgcttctgaaaatTgttatagcaaagagtatgat	15	13	9	4	0	2	3	1	2	1	1	2	4	2	4	0	1	2	4	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207041404T>C	ENST00000407325.2	-	3	930	c.568A>G	c.(568-570)Aat>Gat	p.N190D	GPR1_ENST00000437420.1_Missense_Mutation_p.N190D	NM_001098199.1|NM_001261452.1|NM_001261453.1|NM_001261454.1|NM_001261455.1|NM_005279.3	NP_001091669.1|NP_001248381.1|NP_001248382.1|NP_001248383.1|NP_001248384.1|NP_005270.2	P46091	GPR1_HUMAN	G protein-coupled receptor 1	190						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(1)	18		Lung NSC(271;7.93e-06)|Renal(323;0.000147)|Hepatocellular(293;0.000888)		UCEC - Uterine corpus endometrioid carcinoma (47;0.000241)|Epithelial(149;1.91e-37)|STAD - Stomach adenocarcinoma(1183;0.00178)|Lung(261;0.111)|LUSC - Lung squamous cell carcinoma(261;0.184)		TTCTGAAAATTGTTATAGCAA	0.418													C	207041404	T	C	207041404	3	2	364	1	0	0	0	0	1	0	0	0	6675	1812	63	3	503	3	GPR1	2	207041404	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14186	207041404	36157969	2509	26011											
ZDBF2	57683	broad.mit.edu	37	chr2	207173681	207173681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtgtcttacaaagaggcaGaccttcagaaggaagagcat	16	7	11	7	0	2	4	1	0	1	4	2	5	2	5	1	2	2	2	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207173681G>A	ENST00000374423.3	+	5	4815	c.4429G>A	c.(4429-4431)Gac>Aac	p.D1477N		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1477							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAAAGAGGCAGACCTTCAGAA	0.373													A	207173681	G	A	207173681	3	1	364	1	0	0	0	0	1	0	0	0	17700	942	33	2	4439	2	ZDBF2	2	207173681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132277	207173681	36025692	2510	26012											
ZDBF2	57683	broad.mit.edu	37	chr2	207175566	207175566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacaaggctctgcttcagCgcctttaatggcagtgccgg	7	10	13	11	2	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:207175566C>T	ENST00000374423.3	+	5	6700	c.6314C>T	c.(6313-6315)gCg>gTg	p.A2105V		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2105							nucleic acid binding|zinc ion binding	p.A2105V(2)		endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						TCTGCTTCAGCGCCTTTAATG	0.443													T	207175566	C	T	207175566	3	4	364	1	0	0	0	0	1	0	0	0	17700	768	27	1	6324	1	ZDBF2	2	207175566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1885	207175566	36023807	2511	26013											
CREB1	1385	broad.mit.edu	37	chr2	208440061	208440061	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatggggtacagggcctgCaaacattaaccatgaccaat	13	7	10	11	1	0	1	0	1	0	0	0	2	0	1	4	3	4	2	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208440061C>T	ENST00000432329.2	+	7	864	c.613C>T	c.(613-615)Caa>Taa	p.Q205*	CREB1_ENST00000539789.1_3'UTR|CREB1_ENST00000430624.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000374397.4_Intron|CREB1_ENST00000536726.1_Nonsense_Mutation_p.Q191*|CREB1_ENST00000353267.3_Nonsense_Mutation_p.Q191*	NM_134442.3	NP_604391.1	P16220	CREB1_HUMAN	cAMP responsive element binding protein 1	205					activation of phospholipase C activity|axon guidance|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|protein phosphorylation|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		protein dimerization activity|transcription cofactor activity		EWSR1/CREB1(44)	NS(1)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|upper_aerodigestive_tract(1)	5				LUSC - Lung squamous cell carcinoma(261;0.0768)|Epithelial(149;0.127)|Lung(261;0.145)	Adenosine monophosphate(DB00131)|Bromocriptine(DB01200)|Naloxone(DB01183)	ACAGGGCCTGCAAACATTAAC	0.473			T	EWSR1	"clear cell sarcoma, angiomatoid fibrous histiocytoma"								T	208440061	C	T	208440061	4	4	364	1	0	0	0	0	0	1	0	0	3885	711	25	2	635	2	CREB1	2	208440061	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1264495	208440061	34759312	2512	26014											
PLEKHM3	389072	broad.mit.edu	37	chr2	208811164	208811164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcatccacgtggcagctaCtgcagtaataccacccactg	10	9	8	14	1	1	0	1	0	0	0	2	0	2	0	3	1	4	4	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208811164C>T	ENST00000457206.1	-	4	2046	c.1619G>A	c.(1618-1620)aGt>aAt	p.S540N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S540N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S540N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	540					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGCAGCTACTGCAGTAATA	0.458													T	208811164	C	T	208811164	3	4	364	1	0	0	0	0	1	0	0	0	12159	565	20	2	686	2	PLEKHM3	2	208811164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371103	208811164	34388209	2513	26015											
PLEKHM3	389072	broad.mit.edu	37	chr2	208841666	208841666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagcaagagtcgcagccatCcaggttgtccatctggacag	12	7	11	11	1	1	1	0	0	1	1	4	2	3	2	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208841666C>T	ENST00000457206.1	-	3	1682	c.1255G>A	c.(1255-1257)Gat>Aat	p.D419N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.D419N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.D419N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	419	PH 2.				intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCGCAGCCATCCAGGTTGTCC	0.552													T	208841666	C	T	208841666	3	4	364	1	0	0	0	0	1	0	0	0	12159	855	30	2	1054	2	PLEKHM3	2	208841666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30502	208841666	34357707	2514	26016											
PLEKHM3	389072	broad.mit.edu	37	chr2	208866154	208866154	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtggtcccaaatcatGccccccttgcccagggaggt	8	9	10	14	0	1	0	1	0	0	0	2	1	2	1	5	3	3	0	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866154G>C	ENST00000457206.1	-	2	637	c.210C>G	c.(208-210)ggC>ggG	p.G70G	PLEKHM3_ENST00000389247.4_Silent_p.G70G|PLEKHM3_ENST00000427836.2_Silent_p.G70G			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	70					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCCAAATCATGCCCCCCTTGC	0.502													C	208866154	G	C	208866154	2	2	364	1	0	0	0	0	0	0	0	1	12159	1306	46	4		4	PLEKHM3	2	208866154	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24488	208866154	34333219	2515	26017											
PLEKHM3	389072	broad.mit.edu	37	chr2	208866313	208866313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagtactaaagaattcCtccgtaacttctaaggctgg	13	11	7	10	1	1	1	0	0	1	1	4	1	4	1	3	2	2	3	3	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866313C>A	ENST00000457206.1	-	2	478	c.51G>T	c.(49-51)gaG>gaT	p.E17D	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.E17D|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.E17D			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	17					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAAGAATTCCTCCGTAACTT	0.498													A	208866313	C	A	208866313	3	1	364	1	0	0	0	0	1	0	0	0	12159	680	24	4	2262	4	PLEKHM3	2	208866313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159	208866313	34333060	2516	26018											
PLEKHM3	389072	broad.mit.edu	37	chr2	208866335	208866335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaacttctaaggctgggCtgatatcatccacttccaaa	11	11	7	12	1	2	1	1	1	1	0	4	1	4	1	3	2	1	3	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:208866335C>T	ENST00000457206.1	-	2	456	c.29G>A	c.(28-30)aGc>aAc	p.S10N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S10N|PLEKHM3_ENST00000427836.2_Missense_Mutation_p.S10N			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	10					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TAAGGCTGGGCTGATATCATC	0.478													T	208866335	C	T	208866335	3	4	364	1	0	0	0	0	1	0	0	0	12159	797	28	2	2284	2	PLEKHM3	2	208866335	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	208866335	34333038	2517	26019											
CRYGA	1418	broad.mit.edu	37	chr2	209027941	209027941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcacatgaggaattataCggcaggattggaccgagtcg	12	8	13	8	3	1	1	1	1	0	0	2	6	1	4	1	4	1	1	1	4	3	3	rs139353014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:209027941C>T	ENST00000304502.4	-	2	258	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		AGGAATTATACGGCAGGATTG	0.498													T	209027941	C	T	209027941	3	4	364	1	0	0	0	0	1	0	0	0	3945	536	19	1	293	1	CRYGA	2	209027941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161606	209027941	34171432	2518	26020											
MAP2	4133	broad.mit.edu	37	chr2	210558266	210558266	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacaaagaagctgtgccaAaagagagtaaacccccaaaa	19	4	8	10	0	0	3	0	1	0	2	0	4	0	3	3	0	3	2	3	0	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210558266A>C	ENST00000360351.4	+	7	1878	c.1372A>C	c.(1372-1374)Aaa>Caa	p.K458Q	MAP2_ENST00000447185.1_Missense_Mutation_p.K454Q|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	458					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGCTGTGCCAAAAGAGAGTAA	0.438													C	210558266	A	C	210558266	3	2	364	1	0	0	0	0	1	0	0	0	9310	15	1	5	1386	5	MAP2	2	210558266	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1530325	210558266	32641107	2519	26021											
MAP2	4133	broad.mit.edu	37	chr2	210559424	210559424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agactgtggttgaggatagtCgtactggcttgcccccggta	7	11	14	9	2	0	2	0	1	0	1	1	3	0	3	2	4	2	4	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559424C>T	ENST00000360351.4	+	7	3036	c.2530C>T	c.(2530-2532)Cgt>Tgt	p.R844C	MAP2_ENST00000447185.1_Missense_Mutation_p.R840C|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	844					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGAGGATAGTCGTACTGGCTT	0.493													T	210559424	C	T	210559424	3	4	364	1	0	0	0	0	1	0	0	0	9310	884	31	1	2544	1	MAP2	2	210559424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1158	210559424	32639949	2520	26022											
MAP2	4133	broad.mit.edu	37	chr2	210559779	210559779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctaatgataggttggataCtgtactagaaaagagtgaag	16	10	12	3	0	0	4	0	2	0	2	0	5	0	5	0	2	3	3	0	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210559779C>T	ENST00000360351.4	+	7	3391	c.2885C>T	c.(2884-2886)aCt>aTt	p.T962I	MAP2_ENST00000447185.1_Missense_Mutation_p.T958I|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	962					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGGTTGGATACTGTACTAGAA	0.403													T	210559779	C	T	210559779	3	4	364	1	0	0	0	0	1	0	0	0	9310	565	20	2	2899	2	MAP2	2	210559779	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	355	210559779	32639594	2521	26023											
MAP2	4133	broad.mit.edu	37	chr2	210560108	210560108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagggcaacagagctaaaaCttgaggctacacaggacatg	16	5	12	8	0	0	2	0	1	0	1	0	4	0	3	0	3	4	3	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210560108C>A	ENST00000360351.4	+	7	3720	c.3214C>A	c.(3214-3216)Ctt>Att	p.L1072I	MAP2_ENST00000447185.1_Missense_Mutation_p.L1068I|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1072					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	AGAGCTAAAACTTGAGGCTAC	0.463													A	210560108	C	A	210560108	3	1	364	1	0	0	0	0	1	0	0	0	9310	565	20	4	3228	4	MAP2	2	210560108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329	210560108	32639265	2522	26024											
MAP2	4133	broad.mit.edu	37	chr2	210588343	210588343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggattttaaacaagaagatcGattttagcaaagttcagtcc	15	12	8	6	1	1	2	1	0	0	2	3	4	2	3	1	1	2	2	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:210588343G>A	ENST00000199940.6	+	12	1641	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	MAP2_ENST00000360351.4_Intron|MAP2_ENST00000447185.1_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000361559.4_Intron	NM_001039538.1	NP_001034627.1	P11137	MAP2_HUMAN	microtubule-associated protein 2	1674					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	CAAGAAGATCGATTTTAGCAA	0.413													A	210588343	G	A	210588343	3	1	364	1	0	0	0	0	1	0	0	0	9310	1058	37	1	5311	1	MAP2	2	210588343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28235	210588343	32611030	2523	26025											
ACADL	33	broad.mit.edu	37	chr2	211057568	211057568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtatccccaacctccatGgagctgtacacagtcgtaag	11	9	8	13	1	0	0	0	0	0	0	3	1	2	1	4	1	3	4	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211057568G>T	ENST00000233710.3	-	10	1386	c.1159C>A	c.(1159-1161)Cat>Aat	p.H387N	AC006994.2_ENST00000412065.1_RNA	NM_001608.3	NP_001599.1	P28330	ACADL_HUMAN	acyl-CoA dehydrogenase, long chain	387					carnitine catabolic process|carnitine metabolic process, CoA-linked|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial matrix	long-chain-acyl-CoA dehydrogenase activity|palmitoyl-CoA oxidase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	14		Renal(323;0.202)		Epithelial(149;0.00631)|Lung(261;0.0438)|LUSC - Lung squamous cell carcinoma(261;0.0466)|all cancers(144;0.0621)		CAACCTCCATGGAGCTGTACA	0.353													T	211057568	G	T	211057568	3	4	364	1	0	0	0	0	1	0	0	0	112	1348	47	4	141	4	ACADL	2	211057568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469225	211057568	32141805	2524	26026											
MYL1	4632	broad.mit.edu	37	chr2	211159037	211159037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttccttgtcaaagacaCgcagaccctcaacaaagtct	12	9	6	14	1	3	2	2	0	1	2	4	2	4	2	3	0	2	1	3	0	3	2	rs139030210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211159037C>T	ENST00000352451.3	-	4	557	c.410G>A	c.(409-411)cGt>cAt	p.R137H	MYL1_ENST00000341685.4_Missense_Mutation_p.R93H|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	137	EF-hand 2.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTCAAAGACACGCAGACCCTC	0.463													T	211159037	C	T	211159037	3	4	364	1	0	0	0	0	1	0	0	0	10119	536	19	1	186	1	MYL1	2	211159037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101469	211159037	32040336	2525	26027											
LANCL1	10314	broad.mit.edu	37	chr2	211302421	211302421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacacacagtaccttatagGcctggatgagcatgtagatt	13	11	9	8	0	0	2	0	1	0	1	0	3	0	3	2	2	3	3	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211302421G>A	ENST00000443314.1	-	6	1208	c.866C>T	c.(865-867)gCc>gTc	p.A289V	LANCL1_ENST00000450366.2_Missense_Mutation_p.A289V|LANCL1_ENST00000431941.2_Missense_Mutation_p.A289V|LANCL1_ENST00000233714.4_Missense_Mutation_p.A289V|LANCL1_ENST00000441020.3_Missense_Mutation_p.A289V|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	289						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		TACCTTATAGGCCTGGATGAG	0.348													A	211302421	G	A	211302421	3	1	364	1	0	0	0	0	1	0	0	0	8679	1203	42	2	349	2	LANCL1	2	211302421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143384	211302421	31896952	2526	26028											
CPS1	1373	broad.mit.edu	37	chr2	211469970	211469970	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccatgggtgttcacacaGgtaggcaaagtatcttcaag	12	10	11	8	0	3	0	2	0	1	0	3	0	3	0	1	3	1	4	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:211469970G>T	ENST00000233072.5	+	17	2177	c.1981G>T	c.(1981-1983)Ggt>Tgt	p.G661C	CPS1_ENST00000430249.2_Splice_Site_p.G667C|CPS1_ENST00000451903.2_Splice_Site_p.G210C	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	661	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TGTTCACACAGGTAGGCAAAG	0.373													T	211469970	G	T	211469970	5	4	364	1	0	0	0	0	0	0	1	0	3854	1014	35	4	2069	4	CPS1	2	211469970	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167549	211469970	31729403	2527	26029											
ERBB4	2066	broad.mit.edu	37	chr2	212293204	212293204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagccatccatttaattGgcatctatagagaagtaaga	15	10	8	8	0	1	3	0	0	1	3	2	4	2	3	3	1	1	2	3	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212293204G>A	ENST00000342788.4	-	22	2958	c.2648C>T	c.(2647-2649)cCa>cTa	p.P883L	ERBB4_ENST00000402597.1_Missense_Mutation_p.P873L|ERBB4_ENST00000436443.1_Missense_Mutation_p.P883L	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	883	Protein kinase.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	p.P883L(1)		NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CCATTTAATTGGCATCTATAG	0.328										TSP Lung(8;0.080)			A	212293204	G	A	212293204	3	1	364	1	0	0	0	0	1	0	0	0	5250	1348	47	2	1306	2	ERBB4	2	212293204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	823234	212293204	30906169	2528	26030											
ERBB4	2066	broad.mit.edu	37	chr2	212543838	212543838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagcggcgacacgacaGacattggtctggcccaggtc	10	6	13	12	3	1	2	0	1	1	1	2	4	1	2	1	4	1	0	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212543838G>T	ENST00000342788.4	-	13	1871	c.1561C>A	c.(1561-1563)Ctg>Atg	p.L521M	ERBB4_ENST00000402597.1_Missense_Mutation_p.L521M|ERBB4_ENST00000436443.1_Missense_Mutation_p.L521M	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	521	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		CGACACGACAGACATTGGTCT	0.498										TSP Lung(8;0.080)			T	212543838	G	T	212543838	3	4	364	1	0	0	0	0	1	0	0	0	5250	933	33	4	2429	4	ERBB4	2	212543838	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	250634	212543838	30655535	2529	26031											
ERBB4	2066	broad.mit.edu	37	chr2	212989497	212989497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggaaggagaggtcccGgttgtgctcaatgctggtta	8	9	15	9	2	1	1	1	0	0	1	2	3	2	2	2	5	2	5	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:212989497G>A	ENST00000342788.4	-	2	524	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	ERBB4_ENST00000402597.1_Missense_Mutation_p.R72W|ERBB4_ENST00000436443.1_Missense_Mutation_p.R72W	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	72					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		GAGAGGTCCCGGTTGTGCTCA	0.507										TSP Lung(8;0.080)			A	212989497	G	A	212989497	3	1	364	1	0	0	0	0	1	0	0	0	5250	1115	39	1	3820	1	ERBB4	2	212989497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	445659	212989497	30209876	2530	26032											
SPAG16	79582	broad.mit.edu	37	chr2	214239746	214239746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtagttgatcatagtcGtgaaaaagaaaatgcaccag	15	11	9	6	1	2	3	1	2	1	1	3	3	2	3	1	0	1	3	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:214239746G>A	ENST00000331683.5	+	9	940	c.845G>A	c.(844-846)cGt>cAt	p.R282H	SPAG16_ENST00000447990.1_Missense_Mutation_p.R282H|SPAG16_ENST00000374309.3_Missense_Mutation_p.R188H|SPAG16_ENST00000272898.7_Missense_Mutation_p.R282H	NM_024532.4	NP_078808.3	Q8N0X2	SPG16_HUMAN	sperm associated antigen 16	282					cilium assembly	cilium axoneme|flagellar axoneme				endometrium(4)|kidney(1)|large_intestine(15)|lung(27)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	56		Renal(323;0.00461)		UCEC - Uterine corpus endometrioid carcinoma (47;0.0525)|Epithelial(149;7.07e-07)|all cancers(144;7.96e-05)|Lung(261;0.00255)|LUSC - Lung squamous cell carcinoma(224;0.00599)		GATCATAGTCGTGAAAAAGAA	0.323													A	214239746	G	A	214239746	3	1	364	1	0	0	0	0	1	0	0	0	15074	1145	40	1	895	1	SPAG16	2	214239746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1250249	214239746	28959627	2531	26033											
BARD1	580	broad.mit.edu	37	chr2	215645746	215645746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctggagactctatttgCtcagccaatggtaaagagac	11	11	11	8	0	3	2	1	0	2	2	3	4	3	2	1	2	2	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215645746C>A	ENST00000260947.4	-	4	986	c.852G>T	c.(850-852)gaG>gaT	p.E284D	BARD1_ENST00000449967.2_Missense_Mutation_p.E140D|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	284					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		ACTCTATTTGCTCAGCCAATG	0.383									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				A	215645746	C	A	215645746	3	1	364	1	0	0	0	0	1	0	0	0	1317	796	28	4	1513	4	BARD1	2	215645746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1406000	215645746	27553627	2532	26034											
BARD1	580	broad.mit.edu	37	chr2	215646227	215646227	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttcctaggtttatcttctTtcaaatctgacagaaaaaaa	14	16	4	7	0	4	2	1	1	3	1	5	2	5	2	1	1	0	1	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215646227T>G	ENST00000260947.4	-	4	505	c.371A>C	c.(370-372)aAa>aCa	p.K124T	BARD1_ENST00000449967.2_5'UTR|BARD1_ENST00000471787.1_5'UTR	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	124					cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TTTATCTTCTTTCAAATCTGA	0.333									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				G	215646227	T	G	215646227	3	3	364	1	0	0	0	0	1	0	0	0	1317	1841	64	5	1994	5	BARD1	2	215646227	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	481	215646227	27553146	2533	26035											
ABCA12	26154	broad.mit.edu	37	chr2	215819927	215819927	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaataagggaccttaccGgatcattaggcttttccttg	10	13	9	9	1	1	1	1	1	0	0	2	3	2	3	3	3	1	1	3	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215819927G>T	ENST00000272895.7	-	43	6611	c.6392C>A	c.(6391-6393)cCg>cAg	p.P2131Q	ABCA12_ENST00000389661.4_Splice_Site_p.P1813Q|AC072062.1_ENST00000607412.1_RNA	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2131					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GGACCTTACCGGATCATTAGG	0.343													T	215819927	G	T	215819927	5	4	364	1	0	0	0	0	0	0	1	0	30	1130	39	4	1439	4	ABCA12	2	215819927	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173700	215819927	27379446	2534	26036											
ABCA12	26154	broad.mit.edu	37	chr2	215838767	215838767	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgtttaaacactgtCtgcaagttaaaatgatattg	12	17	7	5	0	2	1	0	1	2	0	2	1	2	1	0	0	2	3	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215838767C>A	ENST00000272895.7	-	36	5688		c.e36-1		ABCA12_ENST00000389661.4_Splice_Site	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12						cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TAAACACTGTCTGCAAGTTAA	0.368													A	215838767	C	A	215838767	5	1	364	1	0	0	0	0	0	0	1	0	30	927	32	4	2391	4	ABCA12	2	215838767	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18840	215838767	27360606	2535	26037											
ABCA12	26154	broad.mit.edu	37	chr2	215876285	215876285	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcatggcagttaaatatTcagtggtaattccttgagaa	13	12	10	6	0	1	1	1	1	0	1	2	2	2	1	1	2	1	5	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:215876285T>G	ENST00000272895.7	-	17	2429	c.2210A>C	c.(2209-2211)gAa>gCa	p.E737A	ABCA12_ENST00000389661.4_Missense_Mutation_p.E419A	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	737					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		AGTTAAATATTCAGTGGTAAT	0.403													G	215876285	T	G	215876285	3	3	364	1	0	0	0	0	1	0	0	0	30	1783	62	5	5725	5	ABCA12	2	215876285	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37518	215876285	27323088	2536	26038											
FN1	2335	broad.mit.edu	37	chr2	216230269	216230269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccgttcccaagacatGtgcagctcatcatctggcca	8	12	7	14	1	3	1	2	0	1	1	5	1	5	1	3	1	2	3	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216230269G>A	ENST00000354785.4	-	43	7472	c.7103C>T	c.(7102-7104)aCa>aTa	p.T2368I	FN1_ENST00000446046.1_Missense_Mutation_p.T2221I|FN1_ENST00000432072.2_Missense_Mutation_p.T2158I|FN1_ENST00000345488.5_Missense_Mutation_p.T2075I|FN1_ENST00000359671.1_Missense_Mutation_p.T2277I|FN1_ENST00000346544.3_Missense_Mutation_p.T2102I|FN1_ENST00000336916.4_Missense_Mutation_p.T2246I|FN1_ENST00000357009.2_3'UTR|FN1_ENST00000356005.4_Missense_Mutation_p.T2187I|FN1_ENST00000323926.6_Missense_Mutation_p.T2337I|FN1_ENST00000357867.4_Missense_Mutation_p.T2067I|FN1_ENST00000443816.1_Missense_Mutation_p.T2156I|FN1_ENST00000421182.1_Missense_Mutation_p.T2131I			P02751	FINC_HUMAN	fibronectin 1	2277					acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCCAAGACATGTGCAGCTCAT	0.458													A	216230269	G	A	216230269	3	1	364	1	0	0	0	0	1	0	0	0	6011	1377	48	2	346	2	FN1	2	216230269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	353984	216230269	26969104	2537	26039											
FN1	2335	broad.mit.edu	37	chr2	216285518	216285518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgatgtcatcaacaatgCactgatctgtttaggaaaca	15	11	8	7	0	3	2	2	2	1	0	3	3	3	3	0	1	3	2	0	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216285518C>T	ENST00000354785.4	-	11	1922	c.1553G>A	c.(1552-1554)tGc>tAc	p.C518Y	FN1_ENST00000432072.2_Missense_Mutation_p.C518Y|FN1_ENST00000345488.5_Missense_Mutation_p.C518Y|FN1_ENST00000359671.1_Missense_Mutation_p.C518Y|FN1_ENST00000346544.3_Missense_Mutation_p.C518Y|FN1_ENST00000336916.4_Missense_Mutation_p.C518Y|FN1_ENST00000426059.1_Missense_Mutation_p.C518Y|FN1_ENST00000357009.2_Missense_Mutation_p.C518Y|FN1_ENST00000356005.4_Missense_Mutation_p.C518Y|FN1_ENST00000323926.6_Missense_Mutation_p.C518Y|FN1_ENST00000446046.1_Missense_Mutation_p.C518Y|FN1_ENST00000357867.4_Missense_Mutation_p.C518Y|FN1_ENST00000443816.1_Missense_Mutation_p.C518Y|FN1_ENST00000421182.1_Missense_Mutation_p.C518Y			P02751	FINC_HUMAN	fibronectin 1	518	Collagen-binding.|Fibronectin type-I 8.			C -> R (in Ref. 4; CAD97791).	acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATCAACAATGCACTGATCTGT	0.433													T	216285518	C	T	216285518	3	4	364	1	0	0	0	0	1	0	0	0	6011	710	25	2	6057	2	FN1	2	216285518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55249	216285518	26913855	2538	26040											
FN1	2335	broad.mit.edu	37	chr2	216293036	216293036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccaattctataggatgtCcttgtgtcctgatcgttgca	7	16	8	10	1	2	1	0	1	2	0	6	2	4	2	3	1	1	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216293036C>A	ENST00000354785.4	-	6	1080	c.711G>T	c.(709-711)agG>agT	p.R237S	FN1_ENST00000432072.2_Missense_Mutation_p.R237S|FN1_ENST00000345488.5_Missense_Mutation_p.R237S|FN1_ENST00000359671.1_Missense_Mutation_p.R237S|FN1_ENST00000346544.3_Missense_Mutation_p.R237S|FN1_ENST00000336916.4_Missense_Mutation_p.R237S|FN1_ENST00000426059.1_Missense_Mutation_p.R237S|FN1_ENST00000357009.2_Missense_Mutation_p.R237S|FN1_ENST00000356005.4_Missense_Mutation_p.R237S|FN1_ENST00000323926.6_Missense_Mutation_p.R237S|FN1_ENST00000446046.1_Missense_Mutation_p.R237S|FN1_ENST00000357867.4_Missense_Mutation_p.R237S|FN1_ENST00000443816.1_Missense_Mutation_p.R237S|FN1_ENST00000421182.1_Missense_Mutation_p.R237S			P02751	FINC_HUMAN	fibronectin 1	237	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGGATGTCCTTGTGTCCT	0.468													A	216293036	C	A	216293036	3	1	364	1	0	0	0	0	1	0	0	0	6011	854	30	4	6919	4	FN1	2	216293036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7518	216293036	26906337	2539	26041											
PECR	55825	broad.mit.edu	37	chr2	216914079	216914079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatagttctccacagcagtCtgggaataaataactccctg	12	10	7	12	0	2	0	0	0	2	0	4	1	3	1	3	1	2	2	3	1	5	4	rs148712165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:216914079C>A	ENST00000265322.7	-	6	695	c.621G>T	c.(619-621)caG>caT	p.Q207H	PECR_ENST00000497889.1_5'UTR	NM_018441.5	NP_060911.2	Q9BY49	PECR_HUMAN	peroxisomal trans-2-enoyl-CoA reductase	207					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)	CCACAGCAGTCTGGGAATAAA	0.363													A	216914079	C	A	216914079	3	1	364	1	0	0	0	0	1	0	0	0	11793	912	32	4	302	4	PECR	2	216914079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	621043	216914079	26285294	2540	26042											
XRCC5	7520	broad.mit.edu	37	chr2	217012882	217012882	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttggaatatgctgaatcCtcccgctgaggtgacaacaa	12	11	9	9	1	0	3	0	3	0	0	2	4	2	4	2	2	2	2	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217012882C>A	ENST00000392133.3	+	16	2014	c.1553C>A	c.(1552-1554)cCt>cAt	p.P518H	XRCC5_ENST00000392132.2_Missense_Mutation_p.P518H			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	518	Pro-rich.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		ATGCTGAATCCTCCCGCTGAG	0.438								Non-homologous end-joining					A	217012882	C	A	217012882	3	1	364	1	0	0	0	0	1	0	0	0	17558	681	24	4	1607	4	XRCC5	2	217012882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98803	217012882	26186491	2541	26043											
XRCC5	7520	broad.mit.edu	37	chr2	217069920	217069920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttcacagttggacatgAtataggtcgtggatgtatgg	9	14	13	5	1	1	1	1	1	0	0	2	3	1	3	0	4	0	3	0	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217069920A>G	ENST00000392133.3	+	23	2655	c.2194A>G	c.(2194-2196)Ata>Gta	p.I732V	XRCC5_ENST00000392132.2_Missense_Mutation_p.I732V			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	732					double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		GTTGGACATGATATAGGTCGT	0.453								Non-homologous end-joining					G	217069920	A	G	217069920	3	3	364	1	0	0	0	0	1	0	0	0	17558	333	12	3	2276	3	XRCC5	2	217069920	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57038	217069920	26129453	2542	26044											
MARCH4	57574	broad.mit.edu	37	chr2	217124103	217124103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcgctgttcatgaggtcTcaagtgactcaggatgtgca	9	12	11	9	1	3	2	3	2	1	0	5	3	3	3	0	2	1	3	0	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217124103T>C	ENST00000273067.4	-	4	2931	c.1165A>G	c.(1165-1167)Aga>Gga	p.R389G		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	389						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		TCATGAGGTCTCAAGTGACTC	0.622													C	217124103	T	C	217124103	3	2	364	1	0	0	0	0	1	0	0	0	9378	1559	54	3	71	3	MARCH4	2	217124103	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	54183	217124103	26075270	2543	26045											
MARCH4	57574	broad.mit.edu	37	chr2	217142452	217142452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatctggaagagaaggtCttggcgctgccatcttgccg	8	9	14	10	2	3	2	0	0	3	2	3	4	3	3	2	3	2	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217142452C>A	ENST00000273067.4	-	3	2574	c.808G>T	c.(808-810)Gac>Tac	p.D270Y		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	270						Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		AAGAGAAGGTCTTGGCGCTGC	0.562													A	217142452	C	A	217142452	3	1	364	1	0	0	0	0	1	0	0	0	9378	913	32	4	432	4	MARCH4	2	217142452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18349	217142452	26056921	2544	26046											
IGFBP5	3488	broad.mit.edu	37	chr2	217543716	217543716	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctcggagatgcgggTgtgtttgggccggaagatct	6	11	16	8	3	2	2	1	0	1	2	3	4	2	3	1	4	2	2	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:217543716T>C	ENST00000233813.4	-	2	1173	c.424A>G	c.(424-426)Acc>Gcc	p.T142A		NM_000599.3	NP_000590.1	P24593	IBP5_HUMAN	insulin-like growth factor binding protein 5	142					negative regulation of insulin-like growth factor receptor signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|negative regulation of translation|signal transduction		insulin-like growth factor I binding			endometrium(1)|large_intestine(3)|lung(1)	5		Renal(323;0.0822)		Epithelial(149;2.1e-06)|all cancers(144;0.000165)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGATGCGGGTGTGTTTGGGC	0.602													C	217543716	T	C	217543716	3	2	364	1	0	0	0	0	1	0	0	0	7640	1696	59	3	406	3	IGFBP5	2	217543716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	401264	217543716	25655657	2545	26047											
TNS1	7145	broad.mit.edu	37	chr2	218745683	218745683	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccagcggatgagggggTcggaggtgttatagtccaca	9	8	16	8	2	0	1	0	1	0	0	3	3	2	3	2	5	1	1	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218745683T>C	ENST00000171887.4	-	16	1444	c.992A>G	c.(991-993)gAc>gGc	p.D331G	TNS1_ENST00000310858.6_Missense_Mutation_p.D362G|TNS1_ENST00000430930.1_Missense_Mutation_p.D331G|TNS1_ENST00000419504.1_Missense_Mutation_p.D331G	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	331						cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GATGAGGGGGTCGGAGGTGTT	0.607													C	218745683	T	C	218745683	3	2	364	1	0	0	0	0	1	0	0	0	16443	1667	58	3	4287	3	TNS1	2	218745683	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1201967	218745683	24453690	2546	26048											
TNS1	7145	broad.mit.edu	37	chr2	218755688	218755688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccagagacccaccttCtttgggatggctggccaatg	8	8	12	13	0	1	1	0	0	1	1	1	4	1	2	5	3	1	1	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:218755688C>A	ENST00000171887.4	-	10	940	c.488G>T	c.(487-489)aGa>aTa	p.R163I	TNS1_ENST00000310858.6_Missense_Mutation_p.R194I|TNS1_ENST00000430930.1_Missense_Mutation_p.R163I|TNS1_ENST00000419504.1_Missense_Mutation_p.R163I	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	163	Phosphatase tensin-type.					cytoplasm|cytoskeleton|focal adhesion	actin binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GACCCACCTTCTTTGGGATGG	0.557													A	218755688	C	A	218755688	3	1	364	1	0	0	0	0	1	0	0	0	16443	913	32	4	4815	4	TNS1	2	218755688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10005	218755688	24443685	2547	26049											
TMBIM1	64114	broad.mit.edu	37	chr2	219144799	219144799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcccactctccaggccCgaagctatcactcactgctc	8	9	6	18	1	4	0	3	0	1	0	7	1	5	0	3	1	2	2	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219144799C>T	ENST00000444881.1	-	4	978	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	TMBIM1_ENST00000258412.3_Missense_Mutation_p.G85R|TMBIM1_ENST00000445635.1_5'UTR|PNKD_ENST00000273077.4_Intron|TMBIM1_ENST00000396809.2_Missense_Mutation_p.G85R|PNKD_ENST00000472650.1_Intron			Q969X1	TMBI1_HUMAN	transmembrane BAX inhibitor motif containing 1	85						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(2)	9		Renal(207;0.0474)		Epithelial(149;8.56e-07)|all cancers(144;0.000154)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCTCCAGGCCCGAAGCTATCA	0.587													T	219144799	C	T	219144799	3	4	364	1	0	0	0	0	1	0	0	0	16081	652	23	1	722	1	TMBIM1	2	219144799	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389111	219144799	24054574	2548	26050											
CTDSP1	58190	broad.mit.edu	37	chr2	219268072	219268072	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggacctgagccggttgggtCgagacctgcggcgggtgctc	5	7	18	11	4	0	2	0	1	0	1	2	4	0	3	3	5	3	2	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219268072C>T	ENST00000273062.2	+	6	925	c.589C>T	c.(589-591)Cga>Tga	p.R197*	CTDSP1_ENST00000488627.1_3'UTR|CTDSP1_ENST00000443891.1_Nonsense_Mutation_p.R196*	NM_021198.2|NM_182642.2	NP_067021.1|NP_872580.1	Q9GZU7	CTDS1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 1	197	FCP1 homology.				protein dephosphorylation|regulation of transcription from RNA polymerase II promoter	nucleus	CTD phosphatase activity|metal ion binding|protein binding			NS(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	8		Renal(207;0.0915)		Epithelial(149;9.96e-07)|all cancers(144;0.00017)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGGTTGGGTCGAGACCTGCG	0.622													T	219268072	C	T	219268072	4	4	364	1	0	0	0	0	0	1	0	0	4036	876	31	1	611	1	CTDSP1	2	219268072	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123273	219268072	23931301	2549	26051											
VIL1	7429	broad.mit.edu	37	chr2	219292775	219292775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcatgtcaagggcaaGaggaacgtggtagctggaga	11	7	16	7	1	1	2	1	0	0	2	1	4	1	3	0	4	4	5	0	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219292775G>T	ENST00000248444.5	+	5	523	c.435G>T	c.(433-435)aaG>aaT	p.K145N	VIL1_ENST00000440053.1_Missense_Mutation_p.K145N|VIL1_ENST00000392114.2_Intron	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	145	Core.|LPA/PIP2-binding site 2.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCAAGGGCAAGAGGAACGTGG	0.642													T	219292775	G	T	219292775	3	4	364	1	0	0	0	0	1	0	0	0	17266	933	33	4	449	4	VIL1	2	219292775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24703	219292775	23906598	2550	26052											
VIL1	7429	broad.mit.edu	37	chr2	219301972	219301972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccccatcattgtggtgaaGcagggacacgagccccccac	10	5	10	16	1	1	1	1	1	0	0	1	3	1	2	5	2	2	1	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219301972G>T	ENST00000248444.5	+	17	2185	c.2097G>T	c.(2095-2097)aaG>aaT	p.K699N	VIL1_ENST00000392114.2_Missense_Mutation_p.K388N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	699	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGTGGTGAAGCAGGGACACG	0.602													T	219301972	G	T	219301972	3	4	364	1	0	0	0	0	1	0	0	0	17266	962	34	4	2159	4	VIL1	2	219301972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9197	219301972	23897401	2551	26053											
RQCD1	9125	broad.mit.edu	37	chr2	219457400	219457400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctgaagcatgtagtgaGatgttaccttcgactttcag	9	14	10	8	1	2	2	1	2	1	1	3	4	2	2	1	0	3	4	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219457400G>A	ENST00000273064.6	+	7	1076	c.701G>A	c.(700-702)aGa>aAa	p.R234K	RQCD1_ENST00000542068.1_Missense_Mutation_p.R234K|RQCD1_ENST00000509807.2_Missense_Mutation_p.R266K|RQCD1_ENST00000295701.5_Missense_Mutation_p.R234K	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	234					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CATGTAGTGAGATGTTACCTT	0.443													A	219457400	G	A	219457400	3	1	364	1	0	0	0	0	1	0	0	0	13761	942	33	2	727	2	RQCD1	2	219457400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155428	219457400	23741973	2552	26054											
ZNF142	7701	broad.mit.edu	37	chr2	219508820	219508820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtcctgtctccttaGggccttgagtaatgactctg	5	17	9	10	0	3	2	0	2	3	0	5	2	4	2	3	1	0	1	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508820G>T	ENST00000411696.2	-	7	3198	c.2419C>A	c.(2419-2421)Cta>Ata	p.L807I	ZNF142_ENST00000449707.1_Missense_Mutation_p.L807I			P52746	ZN142_HUMAN	zinc finger protein 142	807					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TGTCTCCTTAGGGCCTTGAGT	0.567													T	219508820	G	T	219508820	3	4	364	1	0	0	0	0	1	0	0	0	17832	991	35	4	2656	4	ZNF142	2	219508820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51420	219508820	23690553	2553	26055											
ZNF142	7701	broad.mit.edu	37	chr2	219508951	219508951	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatttgtggagggctcaGacactggcttttccagaagg	9	10	15	7	0	1	2	1	0	0	2	2	5	2	4	1	5	0	2	1	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219508951G>T	ENST00000411696.2	-	7	3067	c.2288C>A	c.(2287-2289)tCt>tAt	p.S763Y	ZNF142_ENST00000449707.1_Missense_Mutation_p.S763Y			P52746	ZN142_HUMAN	zinc finger protein 142	763					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GGAGGGCTCAGACACTGGCTT	0.522													T	219508951	G	T	219508951	3	4	364	1	0	0	0	0	1	0	0	0	17832	942	33	4	2787	4	ZNF142	2	219508951	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131	219508951	23690422	2554	26056											
ZNF142	7701	broad.mit.edu	37	chr2	219509500	219509500	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgttgctgaaggtgcggTagtcacagagggcacagtgg	8	9	18	6	1	1	2	1	1	0	1	1	2	1	2	0	5	2	4	0	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219509500T>C	ENST00000411696.2	-	7	2518	c.1739A>G	c.(1738-1740)tAc>tGc	p.Y580C	ZNF142_ENST00000449707.1_Missense_Mutation_p.Y580C			P52746	ZN142_HUMAN	zinc finger protein 142	580					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		GAAGGTGCGGTAGTCACAGAG	0.577													C	219509500	T	C	219509500	3	2	364	1	0	0	0	0	1	0	0	0	17832	1638	57	3	3336	3	ZNF142	2	219509500	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	549	219509500	23689873	2555	26057											
ZNF142	7701	broad.mit.edu	37	chr2	219521095	219521095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatagctcagggcacaGtccatccatctccccggtgc	9	7	9	16	1	2	0	1	0	1	0	5	0	4	0	4	2	3	3	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219521095G>T	ENST00000411696.2	-	3	837	c.58C>A	c.(58-60)Ctg>Atg	p.L20M	ZNF142_ENST00000449707.1_Missense_Mutation_p.L20M			P52746	ZN142_HUMAN	zinc finger protein 142	20					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		TCAGGGCACAGTCCATCCATC	0.582													T	219521095	G	T	219521095	3	4	364	1	0	0	0	0	1	0	0	0	17832	1020	36	4	5033	4	ZNF142	2	219521095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11595	219521095	23678278	2556	26058											
BCS1L	617	broad.mit.edu	37	chr2	219527966	219527966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaggttctatccagggcagGcaccttccttagctgagaac	10	9	11	11	0	1	2	0	1	1	2	3	3	3	2	3	3	2	4	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219527966G>A	ENST00000431802.1	+	8	1816	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BCS1L_ENST00000439945.1_Missense_Mutation_p.A373T|BCS1L_ENST00000392110.2_Missense_Mutation_p.A373T|BCS1L_ENST00000392111.2_Missense_Mutation_p.A373T|BCS1L_ENST00000412366.1_Missense_Mutation_p.A373T|BCS1L_ENST00000359273.3_Missense_Mutation_p.A373T|BCS1L_ENST00000465706.1_3'UTR|BCS1L_ENST00000392109.1_Missense_Mutation_p.A373T			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	373					mitochondrial respiratory chain complex I assembly|mitochondrial respiratory chain complex III assembly|mitochondrial respiratory chain complex IV assembly	integral to membrane|mitochondrial respiratory chain complex III	ATP binding|nucleoside-triphosphatase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCAGGGCAGGCACCTTCCTT	0.542													A	219527966	G	A	219527966	3	1	364	1	0	0	0	0	1	0	0	0	1394	1203	42	2	1143	2	BCS1L	2	219527966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6871	219527966	23671407	2557	26059											
TTLL4	9654	broad.mit.edu	37	chr2	219602861	219602861	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctcaaaagagcctcccTgtcagtctcactgccaacaa	11	8	5	17	0	3	1	3	0	1	1	6	1	5	1	4	0	3	0	4	0	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219602861T>C	ENST00000392102.1	+	3	802	c.462T>C	c.(460-462)ccT>ccC	p.P154P	TTLL4_ENST00000442769.1_Silent_p.P154P|TTLL4_ENST00000258398.4_Silent_p.P154P|TTLL4_ENST00000457313.1_5'UTR	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	154					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		AGAGCCTCCCTGTCAGTCTCA	0.542													C	219602861	T	C	219602861	2	2	364	1	0	0	0	0	0	0	0	1	16831	1567	55	3		3	TTLL4	2	219602861	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74895	219602861	23596512	2558	26060											
CYP27A1	1593	broad.mit.edu	37	chr2	219679381	219679381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccagcctgctacccccagGatccagcacccatttggctc	8	7	8	18	0	0	0	0	0	0	0	2	1	1	1	6	2	5	3	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679381G>A	ENST00000258415.4	+	8	1804	c.1377G>A	c.(1375-1377)agG>agA	p.R459R		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	459					bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	CTACCCCCAGGATCCAGCACC	0.632													A	219679381	G	A	219679381	2	1	364	1	0	0	0	0	0	0	0	1	4191	1165	41	2		2	CYP27A1	2	219679381	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76520	219679381	23519992	2559	26061											
CYP27A1	1593	broad.mit.edu	37	chr2	219679440	219679440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccgggcctgcctgggccGcaggattgcagagctggaga	6	6	18	11	2	0	2	0	0	0	2	1	4	1	3	4	5	3	3	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219679440G>A	ENST00000258415.4	+	8	1863	c.1436G>A	c.(1435-1437)cGc>cAc	p.R479H		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	479			R -> C (in CTX).		bile acid biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	cholestanetriol 26-monooxygenase activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Cholecalciferol(DB00169)	TGCCTGGGCCGCAGGATTGCA	0.652													A	219679440	G	A	219679440	3	1	364	1	0	0	0	0	1	0	0	0	4191	1087	38	1	1466	1	CYP27A1	2	219679440	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59	219679440	23519933	2560	26062											
PRKAG3	53632	broad.mit.edu	37	chr2	219692321	219692321	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattaggagagatggagacCagaggcttgaagcagccttg	12	8	14	7	0	1	4	1	1	0	3	1	7	1	5	2	3	2	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219692321C>T	ENST00000392098.3	-	7	838	c.806G>A	c.(805-807)tGg>tAg	p.W269*	PRKAG3_ENST00000529249.1_Silent_p.L284L|PRKAG3_ENST00000439262.2_Silent_p.L259L|PRKAG3_ENST00000545803.1_Silent_p.L100L			Q9UGI9	AAKG3_HUMAN	protein kinase, AMP-activated, gamma 3 non-catalytic subunit	0					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|intracellular protein kinase cascade|regulation of fatty acid oxidation	cytosol	AMP-activated protein kinase activity|protein kinase binding			large_intestine(7)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;4.35e-07)|all cancers(144;8.96e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGATGGAGACCAGAGGCTTGA	0.582													T	219692321	C	T	219692321	4	4	364	1	0	0	0	0	0	1	0	0	12588	581	21	2	641	2	PRKAG3	2	219692321	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12881	219692321	23507052	2561	26063											
WNT10A	80326	broad.mit.edu	37	chr2	219754749	219754749	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgccatcgcagcagctggCgtggtgcacgccgtgtccaa	7	7	13	14	5	0	0	0	0	0	0	2	0	1	0	3	2	4	4	3	2	2	1	rs148979463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219754749C>T	ENST00000258411.3	+	3	1053	c.420C>T	c.(418-420)ggC>ggT	p.G140G	WNT10A_ENST00000483911.1_3'UTR	NM_025216.2	NP_079492.2	Q9GZT5	WN10A_HUMAN	wingless-type MMTV integration site family, member 10A	140					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to transforming growth factor beta stimulus|female gonad development|hair follicle morphogenesis|odontogenesis|regulation of odontogenesis of dentine-containing tooth|sebaceous gland development|skin development|tongue development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|cervix(1)|endometrium(2)|lung(6)|skin(2)	12		Renal(207;0.0474)		Epithelial(149;4.26e-07)|all cancers(144;8.8e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGCAGCTGGCGTGGTGCACG	0.617													T	219754749	C	T	219754749	2	4	364	1	0	0	0	0	0	0	0	1	17484	755	27	1		1	WNT10A	2	219754749	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62428	219754749	23444624	2562	26064											
CCDC108	255101	broad.mit.edu	37	chr2	219884251	219884251	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgggtgggcaccttgtaGgtgagctcacagggggtggg	5	8	20	8	1	1	1	1	1	0	0	1	1	1	1	2	6	2	3	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:219884251G>T	ENST00000341552.5	-	20	3533	c.3450C>A	c.(3448-3450)acC>acA	p.T1150T	CCDC108_ENST00000453220.1_Silent_p.T1150T|CCDC108_ENST00000441968.1_Silent_p.T1150T	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1150						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCACCTTGTAGGTGAGCTCAC	0.622													T	219884251	G	T	219884251	2	4	364	1	0	0	0	0	0	0	0	1	2769	987	35	4		4	CCDC108	2	219884251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129502	219884251	23315122	2563	26065											
FAM134A	79137	broad.mit.edu	37	chr2	220045793	220045793	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacccatagtgttgagtaTcctgctgtggcccctggtgg	6	13	12	10	0	0	1	0	1	0	0	1	1	1	1	4	3	2	3	4	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220045793T>C	ENST00000430297.2	+	6	786	c.650T>C	c.(649-651)aTc>aCc	p.I217T		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	217						endoplasmic reticulum|integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGTTGAGTATCCTGCTGTGG	0.512													C	220045793	T	C	220045793	3	2	364	1	0	0	0	0	1	0	0	0	5490	1435	50	3	672	3	FAM134A	2	220045793	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	161542	220045793	23153580	2564	26066											
ZFAND2B	130617	broad.mit.edu	37	chr2	220073159	220073159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtcgtagagccacaacccGatctccgtcctggacagccc	8	7	9	17	3	1	1	0	0	1	1	4	3	2	2	5	1	3	1	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220073159G>A	ENST00000409097.1	+	7	596	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	ZFAND2B_ENST00000409206.1_3'UTR|ZFAND2B_ENST00000409336.1_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409594.1_3'UTR|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.R180Q|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.R180Q			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	180						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCACAACCCGATCTCCGTCC	0.562													A	220073159	G	A	220073159	3	1	364	1	0	0	0	0	1	0	0	0	17729	1058	37	1	561	1	ZFAND2B	2	220073159	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27366	220073159	23126214	2565	26067											
ABCB6	10058	broad.mit.edu	37	chr2	220078891	220078891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttccacttcgtaactctcGgcgttgtaatacttcacctg	7	14	7	13	4	2	0	1	0	1	0	5	0	3	0	2	1	2	4	2	1	3	7	rs144749234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220078891G>A	ENST00000265316.3	-	8	1720	c.1404C>T	c.(1402-1404)gcC>gcT	p.A468A	ABCB6_ENST00000439002.2_Silent_p.A422A	NM_005689.2	NP_005680.1	Q9NP58	ABCB6_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 6	468	ABC transmembrane type-1.				cadmium ion transmembrane transport|cellular iron ion homeostasis|detoxification of cadmium ion|porphyrin biosynthetic process	ATP-binding cassette (ABC) transporter complex|Golgi apparatus|integral to mitochondrial outer membrane|plasma membrane|vacuolar membrane	ATP binding|efflux transmembrane transporter activity|heme binding|heme-transporting ATPase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	34		Renal(207;0.0474)		Epithelial(149;1.22e-06)|all cancers(144;0.000201)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTAACTCTCGGCGTTGTAAT	0.488													A	220078891	G	A	220078891	2	1	364	1	0	0	0	0	0	0	0	1	45	1103	39	1		1	ABCB6	2	220078891	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5732	220078891	23120482	2566	26068											
ATG9A	79065	broad.mit.edu	37	chr2	220089566	220089566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgccacgtgcaatacGgaagggcagactgcggggtg	8	8	15	10	3	1	1	0	0	1	1	1	2	1	2	1	4	4	2	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220089566G>A	ENST00000409618.1	-	8	966	c.527C>T	c.(526-528)cCg>cTg	p.P176L	ATG9A_ENST00000396761.2_Missense_Mutation_p.P176L|ATG9A_ENST00000409422.1_Missense_Mutation_p.P115L|ATG9A_ENST00000361242.4_Missense_Mutation_p.P176L			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	176					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTGCAATACGGAAGGGCAGA	0.567													A	220089566	G	A	220089566	3	1	364	1	0	0	0	0	1	0	0	0	1107	1116	39	1	2028	1	ATG9A	2	220089566	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10675	220089566	23109807	2567	26069											
STK16	8576	broad.mit.edu	37	chr2	220111265	220111265	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcttagagccacatctTgggaaggtttctgctaaatg	9	15	9	8	0	3	1	0	0	3	1	4	2	3	2	1	2	2	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220111265T>C	ENST00000409260.1	+	2	216	c.108T>C	c.(106-108)ctT>ctC	p.L36L	STK16_ENST00000409743.1_Intron|STK16_ENST00000486813.1_Intron|STK16_ENST00000396738.2_Intron|STK16_ENST00000409516.3_Intron|STK16_ENST00000409638.3_Intron			O75716	STK16_HUMAN	serine/threonine kinase 16	29	Protein kinase.				protein complex assembly	membrane	ATP binding|protein binding|protein serine/threonine kinase activity			skin(1)	1		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCCACATCTTGGGAAGGTTT	0.473													C	220111265	T	C	220111265	2	2	364	1	0	0	0	0	0	0	0	1	15385	1827	63	3		3	STK16	2	220111265	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21699	220111265	23088108	2568	26070											
DNAJB2	3300	broad.mit.edu	37	chr2	220149426	220149426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgtcagtcacttccaggtCtgggggcactcaggtccagc	6	8	13	14	1	4	0	3	0	1	0	6	0	6	0	3	4	1	1	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220149426C>T	ENST00000336576.5	+	9	980	c.692C>T	c.(691-693)tCt>tTt	p.S231F	DNAJB2_ENST00000392086.4_Missense_Mutation_p.S231F|DNAJB2_ENST00000463463.1_3'UTR	NM_006736.5	NP_006727.2	P25686	DNJB2_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 2	231					ER-associated protein catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|negative regulation of protein deubiquitination|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein folding|response to unfolded protein	inclusion body	heat shock protein binding|Hsp70 protein binding|polyubiquitin binding|proteasome binding|protein binding|unfolded protein binding			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14		Renal(207;0.0474)		Epithelial(149;1.97e-06)|all cancers(144;0.00028)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACTTCCAGGTCTGGGGGCACT	0.637													T	220149426	C	T	220149426	3	4	364	1	0	0	0	0	1	0	0	0	4659	913	32	2	722	2	DNAJB2	2	220149426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38161	220149426	23049947	2569	26071											
PTPRN	5798	broad.mit.edu	37	chr2	220164440	220164440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctgatgttgatgaagctgCctgaggacatgtgcacatgc	10	10	12	9	0	0	4	0	4	0	0	0	5	0	5	2	1	4	3	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220164440C>T	ENST00000295718.2	-	10	1745	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	PTPRN_ENST00000409251.3_Intron|AC114803.3_ENST00000417355.1_RNA|PTPRN_ENST00000423636.2_Missense_Mutation_p.G412D	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	502					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GATGAAGCTGCCTGAGGACAT	0.597													T	220164440	C	T	220164440	3	4	364	1	0	0	0	0	1	0	0	0	12895	739	26	2	1490	2	PTPRN	2	220164440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15014	220164440	23034933	2570	26072											
DNPEP	23549	broad.mit.edu	37	chr2	220251081	220251081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcccaccaccataggtcTccacaccgacttgctggaag	11	7	8	15	1	1	1	0	0	1	1	3	3	2	2	5	2	1	1	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251081T>C	ENST00000273075.4	-	5	606	c.386A>G	c.(385-387)gAg>gGg	p.E129G	DNPEP_ENST00000373972.1_Missense_Mutation_p.E54G|DNPEP_ENST00000523282.1_Missense_Mutation_p.E137G	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	119					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	ACCATAGGTCTCCACACCGAC	0.572													C	220251081	T	C	220251081	3	2	364	1	0	0	0	0	1	0	0	0	4718	1551	54	3	1115	3	DNPEP	2	220251081	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86641	220251081	22948292	2571	26073											
DNPEP	23549	broad.mit.edu	37	chr2	220251124	220251124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctggctgcggcgagaccGacgtttcacctgagtgtaaa	9	8	12	12	4	1	2	1	1	0	1	1	4	1	2	3	2	1	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220251124G>A	ENST00000273075.4	-	5	563	c.343C>T	c.(343-345)Cgg>Tgg	p.R115W	DNPEP_ENST00000373972.1_Missense_Mutation_p.R40W|DNPEP_ENST00000523282.1_Missense_Mutation_p.R123W	NM_012100.2	NP_036232	Q9ULA0	DNPEP_HUMAN	aspartyl aminopeptidase	105					peptide metabolic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Renal(207;0.0474)		Epithelial(149;1.09e-06)|all cancers(144;0.000179)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	L-Glutamic Acid(DB00142)	CGGCGAGACCGACGTTTCACC	0.527													A	220251124	G	A	220251124	3	1	364	1	0	0	0	0	1	0	0	0	4718	1057	37	1	1158	1	DNPEP	2	220251124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	220251124	22948249	2572	26074											
SPEG	10290	broad.mit.edu	37	chr2	220309641	220309641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagctggtggggcagcggGcagacggtcctggagcagga	7	5	21	8	2	0	2	0	1	0	1	1	4	1	4	1	7	3	4	1	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220309641G>A	ENST00000312358.7	+	3	705	c.573G>A	c.(571-573)ggG>ggA	p.G191G	SPEG_ENST00000396698.1_Silent_p.G87G|SPEG_ENST00000396695.2_5'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	191					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GGGGCAGCGGGCAGACGGTCC	0.716													A	220309641	G	A	220309641	2	1	364	1	0	0	0	0	0	0	0	1	15132	1190	42	2		2	SPEG	2	220309641	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58517	220309641	22889732	2573	26075											
SPEG	10290	broad.mit.edu	37	chr2	220338574	220338574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggccctcacctgcaccGcccgaaaccgtcacggcaca	8	4	11	18	4	2	0	2	0	0	0	2	1	2	0	5	3	2	2	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220338574G>A	ENST00000312358.7	+	18	4528	c.4396G>A	c.(4396-4398)Gcc>Acc	p.A1466T	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1466	Ig-like 7.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCTGCACCGCCCGAAACCG	0.647													A	220338574	G	A	220338574	3	1	364	1	0	0	0	0	1	0	0	0	15132	1087	38	1	4478	1	SPEG	2	220338574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28933	220338574	22860799	2574	26076											
SPEG	10290	broad.mit.edu	37	chr2	220349114	220349114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccgagaaagcccgagttcCcacggtgccccccaggccag	9	3	12	17	3	0	1	0	0	0	1	1	3	1	1	7	2	3	1	7	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220349114C>T	ENST00000312358.7	+	30	7061	c.6929C>T	c.(6928-6930)cCc>cTc	p.P2310L	AC053503.11_ENST00000429882.1_RNA|SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2310	Pro-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		GCCCGAGTTCCCACGGTGCCC	0.682													T	220349114	C	T	220349114	3	4	364	1	0	0	0	0	1	0	0	0	15132	623	22	2	7059	2	SPEG	2	220349114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10540	220349114	22850259	2575	26077											
GMPPA	29926	broad.mit.edu	37	chr2	220366664	220366664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccgaggcattcttcGtgctcaatgctgatgtctgc	6	11	12	12	2	3	1	1	1	2	0	4	3	3	2	2	2	4	3	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220366664G>A	ENST00000358215.3	+	5	703	c.334G>A	c.(334-336)Gtg>Atg	p.V112M	AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.V112M|GMPPA_ENST00000373908.1_Missense_Mutation_p.V112M|GMPPA_ENST00000313597.5_Missense_Mutation_p.V112M|GMPPA_ENST00000341142.3_Missense_Mutation_p.V112M	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	112					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		GGCATTCTTCGTGCTCAATGC	0.577													A	220366664	G	A	220366664	3	1	364	1	0	0	0	0	1	0	0	0	6550	1145	40	1	348	1	GMPPA	2	220366664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17550	220366664	22832709	2576	26078											
CHPF	79586	broad.mit.edu	37	chr2	220404123	220404123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcaggtgctgttgccctgCtcctgttcaaagagtagcat	7	12	12	10	0	2	1	2	0	0	1	3	1	3	1	2	2	4	6	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220404123C>T	ENST00000243776.6	-	4	2558	c.2310G>A	c.(2308-2310)gaG>gaA	p.E770E	CHPF_ENST00000535926.1_Silent_p.E608E	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	770						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TGTTGCCCTGCTCCTGTTCAA	0.667													T	220404123	C	T	220404123	2	4	364	1	0	0	0	0	0	0	0	1	3398	796	28	2		2	CHPF	2	220404123	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37459	220404123	22795250	2577	26079											
TMEM198	130612	broad.mit.edu	37	chr2	220412624	220412624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgatcgccactgccgCtgactacttcgccgagctgc	5	9	11	16	5	0	2	0	2	0	0	2	3	0	2	3	0	5	3	3	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220412624C>T	ENST00000344458.2	+	4	1148	c.563C>T	c.(562-564)gCt>gTt	p.A188V	TMEM198_ENST00000373883.3_Missense_Mutation_p.A188V			Q66K66	TM198_HUMAN	transmembrane protein 198	188	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GCCACTGCCGCTGACTACTTC	0.711													T	220412624	C	T	220412624	3	4	364	1	0	0	0	0	1	0	0	0	16219	797	28	2	569	2	TMEM198	2	220412624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8501	220412624	22786749	2578	26080											
OBSL1	23363	broad.mit.edu	37	chr2	220422967	220422967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacacatactccccggcGtcctcaggctgggcgtgggg	6	7	13	15	3	2	0	2	0	0	0	4	0	4	0	3	5	1	1	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220422967G>A	ENST00000404537.1	-	10	3497	c.3441C>T	c.(3439-3441)gaC>gaT	p.D1147D	OBSL1_ENST00000603926.1_Silent_p.D1147D|OBSL1_ENST00000265318.4_Intron|OBSL1_ENST00000373876.1_Silent_p.D1147D|OBSL1_ENST00000265317.5_Silent_p.D138D	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	1147	Ig-like 9.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		ACTCCCCGGCGTCCTCAGGCT	0.672													A	220422967	G	A	220422967	2	1	364	1	0	0	0	0	0	0	0	1	10889	1136	40	1		1	OBSL1	2	220422967	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10343	220422967	22776406	2579	26081											
SLC4A3	6508	broad.mit.edu	37	chr2	220493264	220493264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggaccccgagaagcccagCcgcagctacagcgagcggga	10	2	15	14	4	0	1	0	0	0	1	0	5	0	3	4	2	6	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220493264C>T	ENST00000358055.3	+	3	701	c.189C>T	c.(187-189)agC>agT	p.S63S	SLC4A3_ENST00000317151.3_Silent_p.S63S|SLC4A3_ENST00000373762.3_Silent_p.S63S|SLC4A3_ENST00000273063.6_Silent_p.S63S|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000373760.2_Silent_p.S63S			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	63					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGAAGCCCAGCCGCAGCTACA	0.657													T	220493264	C	T	220493264	2	4	364	1	0	0	0	0	0	0	0	1	14749	738	26	2		2	SLC4A3	2	220493264	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70297	220493264	22706109	2580	26082											
SLC4A3	6508	broad.mit.edu	37	chr2	220497697	220497697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatccggccggaggacaggGccagcgtcctacgtaccctg	8	5	14	14	4	0	1	0	0	0	1	2	3	2	3	5	4	3	1	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220497697G>A	ENST00000358055.3	+	9	1755	c.1243G>A	c.(1243-1245)Gcc>Acc	p.A415T	SLC4A3_ENST00000317151.3_Missense_Mutation_p.A415T|SLC4A3_ENST00000373762.3_Missense_Mutation_p.A442T|SLC4A3_ENST00000273063.6_Missense_Mutation_p.A442T|SLC4A3_ENST00000373760.2_Missense_Mutation_p.A415T			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	415					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGAGGACAGGGCCAGCGTCCT	0.637													A	220497697	G	A	220497697	3	1	364	1	0	0	0	0	1	0	0	0	14749	1203	42	2	1354	2	SLC4A3	2	220497697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4433	220497697	22701676	2581	26083											
SLC4A3	6508	broad.mit.edu	37	chr2	220498005	220498005	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccttccagccatcccaaCgatgacaaggacagtggctt	10	7	9	15	1	0	1	0	1	0	0	2	3	2	2	5	2	2	1	5	2	2	2	rs149397338	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220498005C>T	ENST00000358055.3	+	10	1799	c.1287C>T	c.(1285-1287)aaC>aaT	p.N429N	SLC4A3_ENST00000317151.3_Silent_p.N429N|SLC4A3_ENST00000373762.3_Silent_p.N456N|SLC4A3_ENST00000273063.6_Silent_p.N456N|SLC4A3_ENST00000373760.2_Silent_p.N429N			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	429					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCATCCCAACGATGACAAGG	0.582													T	220498005	C	T	220498005	2	4	364	1	0	0	0	0	0	0	0	1	14749	535	19	1		1	SLC4A3	2	220498005	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	308	220498005	22701368	2582	26084											
SLC4A3	6508	broad.mit.edu	37	chr2	220504340	220504340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgccacggtccgctccGtcacccatgtcaatgcgttg	5	9	11	16	5	2	0	2	0	0	0	4	0	4	0	4	2	2	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:220504340G>A	ENST00000358055.3	+	20	3672	c.3160G>A	c.(3160-3162)Gtc>Atc	p.V1054I	SLC4A3_ENST00000317151.3_Missense_Mutation_p.V1054I|SLC4A3_ENST00000373762.3_Missense_Mutation_p.V1081I|SLC4A3_ENST00000273063.6_Missense_Mutation_p.V1081I|SLC4A3_ENST00000373760.2_Missense_Mutation_p.V1054I			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	1054	Membrane (anion exchange).			V -> I (in Ref. 3; AAN34939).	bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity	p.V1081I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCCGCTCCGTCACCCATGT	0.652													A	220504340	G	A	220504340	3	1	364	1	0	0	0	0	1	0	0	0	14749	1145	40	1	3315	1	SLC4A3	2	220504340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6335	220504340	22695033	2583	26085											
EPHA4	2043	broad.mit.edu	37	chr2	222294740	222294740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggatgagtttgtccaacatGttgacaatctgcccaaattt	11	13	8	9	1	1	2	0	2	1	0	2	3	2	3	2	1	2	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222294740G>A	ENST00000281821.2	-	15	2669	c.2628C>T	c.(2626-2628)aaC>aaT	p.N876N	EPHA4_ENST00000392071.4_Silent_p.N825N|EPHA4_ENST00000409938.1_Silent_p.N876N|EPHA4_ENST00000409854.1_Silent_p.N876N	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	876	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCAACATGTTGACAATCT	0.522													A	222294740	G	A	222294740	2	1	364	1	0	0	0	0	0	0	0	1	5210	1368	48	2		2	EPHA4	2	222294740	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1790400	222294740	20904633	2584	26086											
EPHA4	2043	broad.mit.edu	37	chr2	222321357	222321357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttggttgtaacctccaaggGctcactgaagtctccatagc	9	11	10	11	0	2	1	1	1	1	0	4	1	3	1	3	2	2	4	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222321357G>T	ENST00000281821.2	-	7	1620	c.1579C>A	c.(1579-1581)Ccc>Acc	p.P527T	EPHA4_ENST00000392071.4_Missense_Mutation_p.P476T|EPHA4_ENST00000409938.1_Missense_Mutation_p.P527T|EPHA4_ENST00000409854.1_Missense_Mutation_p.P527T	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	527	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		ACCTCCAAGGGCTCACTGAAG	0.483													T	222321357	G	T	222321357	3	4	364	1	0	0	0	0	1	0	0	0	5210	1203	42	4	1425	4	EPHA4	2	222321357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26617	222321357	20878016	2585	26087											
EPHA4	2043	broad.mit.edu	37	chr2	222347170	222347170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatttcaaaggtgtaattgGtatgagctaggaggtcagtg	12	12	14	3	0	2	2	2	1	0	1	2	3	2	3	0	4	1	3	0	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222347170G>A	ENST00000281821.2	-	5	1261	c.1220C>T	c.(1219-1221)aCc>aTc	p.T407I	EPHA4_ENST00000392071.4_Missense_Mutation_p.T356I|EPHA4_ENST00000409938.1_Missense_Mutation_p.T407I|EPHA4_ENST00000409854.1_Missense_Mutation_p.T407I	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	407	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGTGTAATTGGTATGAGCTAG	0.507													A	222347170	G	A	222347170	3	1	364	1	0	0	0	0	1	0	0	0	5210	1261	44	2	1792	2	EPHA4	2	222347170	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25813	222347170	20852203	2586	26088											
EPHA4	2043	broad.mit.edu	37	chr2	222365844	222365844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgtggggtgggcacttgGcacaggtggcatccgtggag	6	8	19	8	1	0	0	0	0	0	0	1	1	1	1	1	7	1	4	1	7	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:222365844G>A	ENST00000281821.2	-	4	913	c.872C>T	c.(871-873)gCc>gTc	p.A291V	EPHA4_ENST00000392071.4_Missense_Mutation_p.A240V|EPHA4_ENST00000409938.1_Missense_Mutation_p.A291V|EPHA4_ENST00000409854.1_Missense_Mutation_p.A291V	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	291	Cys-rich.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGGGCACTTGGCACAGGTGGC	0.507													A	222365844	G	A	222365844	3	1	364	1	0	0	0	0	1	0	0	0	5210	1203	42	2	2144	2	EPHA4	2	222365844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18674	222365844	20833529	2587	26089											
PAX3	5077	broad.mit.edu	37	chr2	223160331	223160331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacatgcccgggttctctcTtttgtattcctcaattttct	6	18	6	11	1	4	0	1	0	3	0	6	1	5	0	2	1	2	2	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223160331T>C	ENST00000350526.4	-	3	503	c.367A>G	c.(367-369)Aga>Gga	p.R123G	PAX3_ENST00000409551.3_Missense_Mutation_p.R122G|PAX3_ENST00000392070.2_Missense_Mutation_p.R123G|PAX3_ENST00000258387.5_Missense_Mutation_p.R123G|PAX3_ENST00000344493.4_Missense_Mutation_p.R123G|PAX3_ENST00000336840.6_Missense_Mutation_p.R123G|PAX3_ENST00000392069.2_Missense_Mutation_p.R123G|PAX3_ENST00000409828.3_Missense_Mutation_p.R123G	NM_181457.3	NP_852122.1	P23760	PAX3_HUMAN	paired box 3	123	Paired.				apoptosis|organ morphogenesis|positive regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		PAX3/NCOA2(4)|PAX3/NCOA1(8)|PAX3/FOXO1(749)	NS(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(13)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	38		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;1.85e-07)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGTTCTCTCTTTTGTATTCC	0.542			T	"FOXO1A, NCOA1"	alveolar rhabdomyosarcoma		Waardenburg syndrome; craniofacial-deafness-hand syndrome						C	223160331	T	C	223160331	3	2	364	1	0	0	0	0	1	0	0	0	11556	1617	56	3	1311	3	PAX3	2	223160331	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	794487	223160331	20039042	2588	26090											
SGPP2	130367	broad.mit.edu	37	chr2	223423168	223423168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccagccccctcttccccGtgtgtgtcatagttgtgcca	4	11	10	16	2	2	0	1	0	1	0	3	0	3	0	6	1	2	1	6	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223423168G>A	ENST00000321276.7	+	5	837	c.751G>A	c.(751-753)Gtg>Atg	p.V251M		NM_152386.2	NP_689599.2	Q8IWX5	SGPP2_HUMAN	sphingosine-1-phosphate phosphatase 2	251					sphingosine metabolic process	endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity	p.V251M(1)		central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	18		Renal(207;0.0376)		Epithelial(121;2.08e-09)|all cancers(144;9.25e-07)|LUSC - Lung squamous cell carcinoma(224;0.011)|Lung(261;0.0143)		CCTCTTCCCCGTGTGTGTCAT	0.587													A	223423168	G	A	223423168	3	1	364	1	0	0	0	0	1	0	0	0	14313	1145	40	1	769	1	SGPP2	2	223423168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262837	223423168	19776205	2589	26091											
MOGAT1	116255	broad.mit.edu	37	chr2	223554072	223554073	+	Frame_Shift_Ins	INS	-	-	T																															gcagttggagcctttgggaaINStttttctgtaaattattctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554072_223554073insT	ENST00000446656.3	+	3	362_363	c.362_363insT	c.(361-366)aattttfs	p.NF121fs		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	121					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		GCCTTTGGGAATTTTTCTGTAA	0.406													T	223554073	-	T	223554072	7	5	364	1	0	1	1	0	0	0	0	0	9770	101	4	0	372	0	MOGAT1	2	223554072	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	130904	223554072	19645301	2590	26092											
MOGAT1	116255	broad.mit.edu	37	chr2	223554130	223554130	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctttacttcatatctTcacgtgctgccactttggtt	5	17	7	12	1	3	0	2	0	1	0	3	0	3	0	2	2	3	3	2	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223554130T>C	ENST00000446656.3	+	3	420	c.420T>C	c.(418-420)ctT>ctC	p.L140L		NM_058165.2	NP_477513.2	Q96PD6	MOGT1_HUMAN	monoacylglycerol O-acyltransferase 1	140					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			breast(1)|cervix(1)|endometrium(1)|lung(5)|urinary_tract(1)	9		Renal(207;0.0183)		Epithelial(121;4.13e-10)|all cancers(144;2.06e-07)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0105)		CTTCATATCTTCACGTGCTGC	0.443													C	223554130	T	C	223554130	2	2	364	1	0	0	0	0	0	0	0	1	9770	1770	62	3		3	MOGAT1	2	223554130	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58	223554130	19645243	2591	26093											
ACSL3	2181	broad.mit.edu	37	chr2	223787865	223787865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacactgatggcagcagttCcggtaagaagtgacccttat	12	9	10	10	1	0	3	0	2	0	1	1	3	1	3	2	2	2	4	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223787865C>T	ENST00000357430.3	+	10	1681	c.1150C>T	c.(1150-1152)Ccg>Tcg	p.P384S	ACSL3_ENST00000392066.3_Missense_Mutation_p.P384S	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	384					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GGCAGCAGTTCCGGTAAGAAG	0.333			T	ETV1	prostate								T	223787865	C	T	223787865	3	4	364	1	0	0	0	0	1	0	0	0	178	855	30	2	1176	2	ACSL3	2	223787865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233735	223787865	19411508	2592	26094											
ACSL3	2181	broad.mit.edu	37	chr2	223806295	223806295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaactggtctggtgacaGatgccttcaagctgaaacgc	11	9	11	10	1	2	4	1	3	1	1	2	4	2	4	1	2	4	1	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:223806295G>T	ENST00000357430.3	+	17	2617	c.2086G>T	c.(2086-2088)Gat>Tat	p.D696Y	ACSL3_ENST00000392066.3_Missense_Mutation_p.D696Y	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	696					long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	TCTGGTGACAGATGCCTTCAA	0.388			T	ETV1	prostate								T	223806295	G	T	223806295	3	4	364	1	0	0	0	0	1	0	0	0	178	942	33	4	2140	4	ACSL3	2	223806295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18430	223806295	19393078	2593	26095											
WDFY1	57590	broad.mit.edu	37	chr2	224743434	224743434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagcccaccacaggtGtcatgtcccagatctacaag	11	7	9	14	0	2	1	1	0	1	1	3	2	3	1	3	1	3	1	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224743434G>A	ENST00000233055.4	-	12	1289	c.1187C>T	c.(1186-1188)aCa>aTa	p.T396I		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	396						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		CACCACAGGTGTCATGTCCCA	0.517													A	224743434	G	A	224743434	3	1	364	1	0	0	0	0	1	0	0	0	17370	1377	48	2	49	2	WDFY1	2	224743434	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	937139	224743434	18455939	2594	26096											
WDFY1	57590	broad.mit.edu	37	chr2	224759041	224759041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctgaaggtagcacagCgactgcaccttgtcactgca	10	8	12	11	1	1	2	1	2	0	0	1	3	1	2	1	1	5	5	1	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224759041C>T	ENST00000233055.4	-	8	843	c.741G>A	c.(739-741)tcG>tcA	p.S247S		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	247						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		GGTAGCACAGCGACTGCACCT	0.507													T	224759041	C	T	224759041	2	4	364	1	0	0	0	0	0	0	0	1	17370	755	27	1		1	WDFY1	2	224759041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15607	224759041	18440332	2595	26097											
WDFY1	57590	broad.mit.edu	37	chr2	224763764	224763764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaataatcaccaacgaaaGcatactgagtgtcaaagtca	18	7	7	9	1	3	2	3	1	0	1	3	3	3	2	1	0	3	1	1	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:224763764G>A	ENST00000233055.4	-	6	611	c.509C>T	c.(508-510)gCt>gTt	p.A170V		NM_020830.3	NP_065881.1	Q8IWB7	WDFY1_HUMAN	WD repeat and FYVE domain containing 1	170						cytosol|early endosome|nucleus	1-phosphatidylinositol binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(6)|prostate(2)	18		all_lung(227;0.00682)|Lung NSC(271;0.00859)|Renal(207;0.0112)|all_hematologic(139;0.189)		Epithelial(121;5.34e-10)|all cancers(144;1.67e-07)|Lung(261;0.00807)|LUSC - Lung squamous cell carcinoma(224;0.00843)		ACCAACGAAAGCATACTGAGT	0.433													A	224763764	G	A	224763764	3	1	364	1	0	0	0	0	1	0	0	0	17370	971	34	2	751	2	WDFY1	2	224763764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4723	224763764	18435609	2596	26098											
CUL3	8452	broad.mit.edu	37	chr2	225365132	225365132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtgggatgttgcactttgGtgtggctgactgagtgggcc	4	13	18	6	0	0	2	0	2	0	0	0	3	0	3	1	5	1	3	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225365132G>A	ENST00000264414.4	-	11	1896	c.1558C>T	c.(1558-1560)Cca>Tca	p.P520S	CUL3_ENST00000409777.1_Missense_Mutation_p.P496S|CUL3_ENST00000344951.4_Missense_Mutation_p.P454S|CUL3_ENST00000409096.1_Missense_Mutation_p.P496S	NM_003590.4	NP_003581.1	Q13618	CUL3_HUMAN	cullin 3	520					cell cycle arrest|cell migration|cyclin catabolic process|cytokinesis|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|mitotic anaphase|negative regulation of Rho protein signal transduction|positive regulation of cell proliferation|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|Golgi apparatus|nucleus|polar microtubule	ubiquitin protein ligase binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	46		all_lung(227;0.00877)|Lung NSC(271;0.011)|Renal(207;0.0112)|all_hematologic(139;0.138)		Epithelial(121;1.58e-11)|all cancers(144;1.43e-08)|Lung(261;0.00863)|LUSC - Lung squamous cell carcinoma(224;0.00902)		TTGCACTTTGGTGTGGCTGAC	0.428													A	225365132	G	A	225365132	3	1	364	1	0	0	0	0	1	0	0	0	4089	1261	44	2	772	2	CUL3	2	225365132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	601368	225365132	17834241	2597	26099											
DOCK10	55619	broad.mit.edu	37	chr2	225727444	225727444	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcagaattgtctgttggatTttagtatcttttgtgcatac	8	19	9	5	0	2	1	0	0	2	1	2	2	2	2	0	1	3	4	0	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:225727444T>G	ENST00000409592.3	-	14	1717	c.1604A>C	c.(1603-1605)aAa>aCa	p.K535T	DOCK10_ENST00000258390.7_Missense_Mutation_p.K541T			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	541							GTP binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TCTGTTGGATTTTAGTATCTT	0.303													G	225727444	T	G	225727444	3	3	364	1	0	0	0	0	1	0	0	0	4724	1841	64	5	5110	5	DOCK10	2	225727444	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	362312	225727444	17471929	2598	26100											
IRS1	3667	broad.mit.edu	37	chr2	227660889	227660889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacagcctcgtgggccgggCcaggcggctattggtctgag	5	7	18	11	3	1	1	0	1	1	0	2	2	1	2	3	6	1	1	3	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227660889C>T	ENST00000305123.5	-	1	3586	c.2566G>A	c.(2566-2568)Gcc>Acc	p.A856T		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GTGGGCCGGGCCAGGCGGCTA	0.662													T	227660889	C	T	227660889	3	4	364	1	0	0	0	0	1	0	0	0	7898	739	26	2	1166	2	IRS1	2	227660889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1933445	227660889	15538484	2599	26101											
IRS1	3667	broad.mit.edu	37	chr2	227662846	227662846	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcagctgcagcaccacGgccgctgcctccgagttcag	7	8	10	16	3	3	0	3	0	0	0	4	1	4	0	4	1	4	5	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227662846G>A	ENST00000305123.5	-	1	1629	c.609C>T	c.(607-609)gcC>gcT	p.A203A		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		IRS-type PTB.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCAGCACCACGGCCGCTGCCT	0.592											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662846	G	A	227662846	2	1	364	1	0	0	0	0	0	0	0	1	7898	1103	39	1		1	IRS1	2	227662846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1957	227662846	15536527	2600	26102											
COL4A4	1286	broad.mit.edu	37	chr2	227924141	227924141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcccctggacatcccGgatcacctctgggtcctttt	5	12	8	16	1	3	0	2	0	1	0	5	2	5	2	5	3	1	0	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227924141G>A	ENST00000396625.3	-	28	2570	c.2363C>T	c.(2362-2364)cCg>cTg	p.P788L	COL4A4_ENST00000329662.7_Missense_Mutation_p.P788L	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	788	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding	p.P788Q(1)		breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGGACATCCCGGATCACCTCT	0.532													A	227924141	G	A	227924141	3	1	364	1	0	0	0	0	1	0	0	0	3724	1116	39	1	2793	1	COL4A4	2	227924141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261295	227924141	15275232	2601	26103											
COL4A4	1286	broad.mit.edu	37	chr2	227954604	227954604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttttctccttttgggcctCttcctcctgggggaccaact	3	16	8	14	0	2	0	0	0	2	0	5	1	4	1	5	3	1	0	5	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:227954604C>T	ENST00000396625.3	-	21	1646	c.1439G>A	c.(1438-1440)aGa>aAa	p.R480K	COL4A4_ENST00000329662.7_Missense_Mutation_p.R480K	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	480	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TTTTGGGCCTCTTCCTCCTGG	0.488													T	227954604	C	T	227954604	3	4	364	1	0	0	0	0	1	0	0	0	3724	913	32	2	3745	2	COL4A4	2	227954604	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30463	227954604	15244769	2602	26104											
COL4A4	1286	broad.mit.edu	37	chr2	228012194	228012194	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attagtactatgtgcagagaCcacatcgcaggcaagtctta	13	10	9	9	1	1	1	0	0	1	1	2	2	1	1	1	1	2	4	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228012194C>T	ENST00000396625.3	-	2	213	c.6G>A	c.(4-6)tgG>tgA	p.W2*	COL4A4_ENST00000329662.7_Nonsense_Mutation_p.W2*	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	2					axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TGTGCAGAGACCACATCGCAG	0.448													T	228012194	C	T	228012194	4	4	364	1	0	0	0	0	0	1	0	0	3724	508	18	2	5254	2	COL4A4	2	228012194	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57590	228012194	15187179	2603	26105											
MFF	56947	broad.mit.edu	37	chr2	228205057	228205057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtctatgagtgaaaatgCtgttcgccaaaatggacagc	12	9	12	8	2	1	2	0	2	1	0	2	3	1	3	1	2	2	2	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228205057C>T	ENST00000353339.3	+	6	920	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MFF_ENST00000524634.1_Missense_Mutation_p.A5V|MFF_ENST00000304593.9_Missense_Mutation_p.A134V|MFF_ENST00000409616.1_Missense_Mutation_p.A134V|MFF_ENST00000476924.1_3'UTR|MFF_ENST00000392059.1_Missense_Mutation_p.A160V|MFF_ENST00000354503.6_Missense_Mutation_p.A134V|MFF_ENST00000349901.7_Missense_Mutation_p.A134V|MFF_ENST00000409565.1_Missense_Mutation_p.A134V|MFF_ENST00000337110.7_Missense_Mutation_p.A134V	NM_001277061.1	NP_001263990.1	Q9GZY8	MFF_HUMAN	mitochondrial fission factor	160						integral to membrane|mitochondrial outer membrane				breast(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(4)|stomach(2)	21						AGTGAAAATGCTGTTCGCCAA	0.403													T	228205057	C	T	228205057	3	4	364	1	0	0	0	0	1	0	0	0	9594	797	28	2	493	2	MFF	2	228205057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192863	228205057	14994316	2604	26106											
TM4SF20	79853	broad.mit.edu	37	chr2	228228534	228228534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacaggacctccagaattCcaacaagcaatagacctaaa	19	5	5	12	0	0	2	0	0	0	2	2	3	2	3	4	1	3	1	4	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228228534C>A	ENST00000304568.3	-	4	633	c.596G>T	c.(595-597)gGa>gTa	p.G199V		NM_024795.3	NP_079071.2	Q53R12	T4S20_HUMAN	transmembrane 4 L six family member 20	199						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(4)|stomach(2)	10		Renal(207;0.025)|all_lung(227;0.123)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;3.8e-11)|all cancers(144;2.57e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CTCCAGAATTCCAACAAGCAA	0.428													A	228228534	C	A	228228534	3	1	364	1	0	0	0	0	1	0	0	0	16069	855	30	4	97	4	TM4SF20	2	228228534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23477	228228534	14970839	2605	26107											
AGFG1	3267	broad.mit.edu	37	chr2	228399560	228399560	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgattttgttcgttcccaGgtggtgatcagggaagtggc	6	14	14	7	1	1	2	1	2	0	0	3	3	2	3	1	4	0	2	1	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228399560G>T	ENST00000310078.8	+	8	1284		c.e8-1		AGFG1_ENST00000373671.3_Splice_Site|AGFG1_ENST00000409171.1_Splice_Site|AGFG1_ENST00000409979.2_Splice_Site|AGFG1_ENST00000409315.1_Intron	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TTCGTTCCCAGGTGGTGATCA	0.408													T	228399560	G	T	228399560	5	4	364	1	0	0	0	0	0	0	1	0	380	1014	35	4	1130	4	AGFG1	2	228399560	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171026	228399560	14799813	2606	26108											
AGFG1	3267	broad.mit.edu	37	chr2	228418504	228418504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagtatctagtaatcCttttatggtaagcaaaattt	12	16	8	5	0	1	0	0	0	1	0	2	1	2	1	1	2	2	5	1	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228418504C>A	ENST00000310078.8	+	12	1882	c.1622C>A	c.(1621-1623)cCt>cAt	p.P541H	AGFG1_ENST00000373671.3_Missense_Mutation_p.P501H|AGFG1_ENST00000409171.1_Missense_Mutation_p.P539H|AGFG1_ENST00000409979.2_Missense_Mutation_p.P563H|AGFG1_ENST00000409315.1_Missense_Mutation_p.P520H	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1						cell differentiation|mRNA export from nucleus|multicellular organismal development|regulation of ARF GTPase activity|spermatogenesis	cytoplasmic membrane-bounded vesicle|Golgi apparatus|nuclear pore	ARF GTPase activator activity|DNA binding|protein binding|RNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						TCTAGTAATCCTTTTATGGTA	0.313													A	228418504	C	A	228418504	3	1	364	1	0	0	0	0	1	0	0	0	380	681	24	4	1744	4	AGFG1	2	228418504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18944	228418504	14780869	2607	26109											
SPHKAP	80309	broad.mit.edu	37	chr2	228882782	228882782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtctgctaattcttccgCaaagtctgtaatgcagtaga	10	13	9	9	2	3	1	0	0	3	1	4	1	4	1	1	0	2	5	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228882782C>T	ENST00000392056.3	-	7	2834	c.2788G>A	c.(2788-2790)Gcg>Acg	p.A930T	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A930T	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	930	PKA-RII subunit binding domain (By similarity).					cytoplasm	protein binding	p.A930T(1)		NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		AATTCTTCCGCAAAGTCTGTA	0.473													T	228882782	C	T	228882782	3	4	364	1	0	0	0	0	1	0	0	0	15144	710	25	2	2338	2	SPHKAP	2	228882782	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	464278	228882782	14316591	2608	26110											
SPHKAP	80309	broad.mit.edu	37	chr2	228884074	228884074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctgcacaagctaacGccacttctagagcactctgg	10	8	10	13	1	2	1	0	0	2	1	2	1	2	1	1	2	4	4	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:228884074G>A	ENST00000392056.3	-	7	1542	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	SPHKAP_ENST00000344657.5_Missense_Mutation_p.A499V	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	499						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACAAGCTAACGCCACTTCTAG	0.527													A	228884074	G	A	228884074	3	1	364	1	0	0	0	0	1	0	0	0	15144	1087	38	1	3630	1	SPHKAP	2	228884074	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1292	228884074	14315299	2609	26111											
DNER	92737	broad.mit.edu	37	chr2	230377525	230377525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaaacacaggtgaaattgCtcccatcttgcttttcattt	10	14	7	10	0	2	1	1	1	1	0	3	1	3	1	1	2	3	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230377525C>T	ENST00000341772.4	-	6	1255	c.1121G>A	c.(1120-1122)aGc>aAc	p.S374N		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	374	EGF-like 4.				central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGTGAAATTGCTCCCATCTTG	0.423													T	230377525	C	T	230377525	3	4	364	1	0	0	0	0	1	0	0	0	4706	797	28	2	1124	2	DNER	2	230377525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1493451	230377525	12821848	2610	26112											
TRIP12	9320	broad.mit.edu	37	chr2	230656709	230656709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatacacagtcatgttatAcggcagcaaatgttctccaa	13	11	7	10	1	2	1	1	1	1	0	3	1	2	1	1	1	3	4	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230656709A>G	ENST00000283943.5	-	28	4241	c.4063T>C	c.(4063-4065)Tat>Cat	p.Y1355H	TRIP12_ENST00000389045.3_Missense_Mutation_p.Y1085H|TRIP12_ENST00000389044.4_Missense_Mutation_p.Y1403H	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1355					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTCATGTTATACGGCAGCAAA	0.423													G	230656709	A	G	230656709	3	3	364	1	0	0	0	0	1	0	0	0	16657	391	14	3	1971	3	TRIP12	2	230656709	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	279184	230656709	12542664	2611	26113											
TRIP12	9320	broad.mit.edu	37	chr2	230668856	230668856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcataaagaacaccaaatAatgtcttaataaaagactta	20	11	3	7	0	2	2	1	0	1	2	2	2	2	2	1	0	1	0	1	0	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230668856A>G	ENST00000283943.5	-	18	2691	c.2513T>C	c.(2512-2514)tTa>tCa	p.L838S	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.L568S|TRIP12_ENST00000389044.4_Missense_Mutation_p.L886S	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	838					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AACACCAAATAATGTCTTAAT	0.388													G	230668856	A	G	230668856	3	3	364	1	0	0	0	0	1	0	0	0	16657	372	13	3	3561	3	TRIP12	2	230668856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12147	230668856	12530517	2612	26114											
TRIP12	9320	broad.mit.edu	37	chr2	230672573	230672573	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttttggtaaacatggcaTaagttcactgaaaacaaaaa	17	12	6	6	0	2	1	1	1	1	0	2	1	2	1	0	2	2	3	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230672573T>C	ENST00000283943.5	-	16	2381	c.2203A>G	c.(2203-2205)Atg>Gtg	p.M735V	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389045.3_Missense_Mutation_p.M438V|TRIP12_ENST00000389044.4_Missense_Mutation_p.M783V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	735					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AAACATGGCATAAGTTCACTG	0.343													C	230672573	T	C	230672573	3	2	364	1	0	0	0	0	1	0	0	0	16657	1406	49	3	3879	3	TRIP12	2	230672573	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3717	230672573	12526800	2613	26115											
FBXO36	130888	broad.mit.edu	37	chr2	230861496	230861496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttaatatttggtgcaagaAtattagactatgtcatcaat	14	15	6	6	0	2	2	2	0	0	2	2	2	2	2	1	1	1	1	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230861496A>G	ENST00000373652.3	+	4	563	c.142A>G	c.(142-144)Ata>Gta	p.I48V	FBXO36_ENST00000409992.1_Intron|FBXO36_ENST00000283946.3_Missense_Mutation_p.I79V			Q8NEA4	FBX36_HUMAN	F-box protein 36	79										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		TGGTGCAAGAATATTAGACTA	0.333													G	230861496	A	G	230861496	3	3	364	1	0	0	0	0	1	0	0	0	5794	101	4	3	245	3	FBXO36	2	230861496	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188923	230861496	12337877	2614	26116											
FBXO36	130888	broad.mit.edu	37	chr2	230875554	230875554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctccagcggcagctccGcaagaggaaacaaaaatatg	15	4	10	12	2	0	1	0	0	0	1	2	2	2	2	3	2	4	4	3	2	5	1	rs145410117		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:230875554G>A	ENST00000373652.3	+	5	849	c.428G>A	c.(427-429)cGc>cAc	p.R143H	FBXO36_ENST00000409992.1_Missense_Mutation_p.R154H|FBXO36_ENST00000283946.3_Missense_Mutation_p.R174H			Q8NEA4	FBX36_HUMAN	F-box protein 36	174										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(1)	7		Renal(207;0.0112)|all_lung(227;0.0179)|Lung NSC(271;0.0804)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;7.56e-14)|all cancers(144;7.74e-11)|Lung(119;0.00488)|LUSC - Lung squamous cell carcinoma(224;0.008)		CGGCAGCTCCGCAAGAGGAAA	0.542													A	230875554	G	A	230875554	3	1	364	1	0	0	0	0	1	0	0	0	5794	1087	38	1	535	1	FBXO36	2	230875554	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14058	230875554	12323819	2615	26117											
SP110	3431	broad.mit.edu	37	chr2	231067397	231067397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcttttgaggaacctgatCcacccttttgagcttctttt	6	19	6	10	0	2	3	0	3	2	0	3	4	3	4	3	1	2	1	3	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231067397C>T	ENST00000258381.6	-	9	1023	c.946G>A	c.(946-948)Gat>Aat	p.D316N	SP110_ENST00000392048.3_Missense_Mutation_p.D314N|SP110_ENST00000540870.1_Missense_Mutation_p.D322N|SP110_ENST00000338556.3_Intron|SP110_ENST00000358662.4_Missense_Mutation_p.D316N|SP110_ENST00000258382.5_Missense_Mutation_p.D316N	NM_080424.2	NP_536349	Q9HB58	SP110_HUMAN	SP110 nuclear body protein	316					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|signal transducer activity|zinc ion binding			breast(4)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Renal(207;0.0112)|all_lung(227;0.0223)|Lung NSC(271;0.0983)|all_hematologic(139;0.104)|Acute lymphoblastic leukemia(138;0.169)		Epithelial(121;2.61e-12)|all cancers(144;6.39e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.0097)		GGAACCTGATCCACCCTTTTG	0.453													T	231067397	C	T	231067397	3	4	364	1	0	0	0	0	1	0	0	0	15055	855	30	2	1303	2	SP110	2	231067397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191843	231067397	12131976	2616	26118											
SP100	6672	broad.mit.edu	37	chr2	231282380	231282380	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacagccacgatttgcaaaGgtgatgaatgaagagttatg	15	9	11	6	1	0	4	0	3	0	1	0	5	0	4	1	1	2	2	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231282380G>T	ENST00000264052.5	+	2	462	c.107G>T	c.(106-108)aGg>aTg	p.R36M	SP100_ENST00000340126.4_Splice_Site_p.R36M|SP100_ENST00000409112.1_Splice_Site_p.R36M|SP100_ENST00000409897.1_5'UTR|SP100_ENST00000427101.2_Intron|SP100_ENST00000409341.1_Splice_Site_p.R36M|SP100_ENST00000341950.4_Splice_Site_p.R36M|SP100_ENST00000409824.1_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	36	HSR.				DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		gatttgcaaaggtgatgaatg	0.378													T	231282380	G	T	231282380	5	4	364	1	0	0	0	0	0	0	1	0	15054	1014	35	4	113	4	SP100	2	231282380	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214983	231282380	11916993	2617	26119											
SP100	6672	broad.mit.edu	37	chr2	231379976	231379976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgaaaacctatatccCtcctaaaggggagaaaaaaa	21	6	7	7	0	0	3	0	1	0	2	2	4	2	3	3	2	1	0	3	2	10	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231379976C>A	ENST00000264052.5	+	25	2616	c.2261C>A	c.(2260-2262)cCt>cAt	p.P754H	SP100_ENST00000340126.4_Intron	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	754					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ACCTATATCCCTCCTAAAGGG	0.423													A	231379976	C	A	231379976	3	1	364	1	0	0	0	0	1	0	0	0	15054	681	24	4	2359	4	SP100	2	231379976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97596	231379976	11819397	2618	26120											
CAB39	51719	broad.mit.edu	37	chr2	231683256	231683256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagccaatcctaacaagaCgcagcccatcctagacatcc	13	7	6	15	1	0	2	0	0	0	2	3	2	3	2	5	0	3	2	5	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231683256C>T	ENST00000258418.5	+	9	1292	c.863C>T	c.(862-864)aCg>aTg	p.T288M	CAB39_ENST00000409788.3_Missense_Mutation_p.T288M|CAB39_ENST00000410084.3_Missense_Mutation_p.T288M	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	288					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		CCTAACAAGACGCAGCCCATC	0.527													T	231683256	C	T	231683256	3	4	364	1	0	0	0	0	1	0	0	0	2551	536	19	1	893	1	CAB39	2	231683256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303280	231683256	11516117	2619	26121											
PSMD1	5707	broad.mit.edu	37	chr2	231941835	231941835	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatctgcagttcttaataCgaaacaataatacagacctc	16	11	4	10	1	2	1	0	0	2	1	3	2	2	1	1	0	5	2	1	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:231941835C>T	ENST00000308696.6	+	9	1192	c.1030C>T	c.(1030-1032)Cga>Tga	p.R344*	PSMD1_ENST00000409643.1_Nonsense_Mutation_p.R344*|PSMD1_ENST00000373635.4_Nonsense_Mutation_p.R344*	NM_002807.3	NP_002798.2	Q99460	PSMD1_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 1	344					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)	31		Ovarian(221;0.000626)|Medulloblastoma(418;0.0109)|Renal(207;0.0112)|Lung NSC(271;0.0538)|all_lung(227;0.0713)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;4e-26)|LUSC - Lung squamous cell carcinoma(224;0.0138)|Lung(119;0.0168)	Bortezomib(DB00188)	GTTCTTAATACGAAACAATAA	0.299													T	231941835	C	T	231941835	4	4	364	1	0	0	0	0	0	1	0	0	12777	528	19	1	1064	1	PSMD1	2	231941835	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258579	231941835	11257538	2620	26122											
NCL	4691	broad.mit.edu	37	chr2	232325433	232325433	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcatcatcatcttcaTcatcttcgtcgtcgtcgtca	7	16	4	14	4	9	0	7	0	2	0	13	0	9	0	0	0	0	0	0	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232325433T>C	ENST00000322723.4	-	4	998	c.758A>G	c.(757-759)gAt>gGt	p.D253G		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	253	Asp/Glu-rich (acidic).				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		atcatcttcatcatcttcgtc	0.428													C	232325433	T	C	232325433	3	2	364	1	0	0	0	0	1	0	0	0	10302	1435	50	3	1418	3	NCL	2	232325433	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383598	232325433	10873940	2621	26123											
NMUR1	10316	broad.mit.edu	37	chr2	232390003	232390003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgagcccaggtagaaGaagatgccggagatgacgtg	11	4	16	10	4	0	5	0	1	0	4	0	7	0	5	4	2	2	1	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232390003G>T	ENST00000305141.4	-	3	1165	c.1032C>A	c.(1030-1032)ttC>ttA	p.F344L		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	344					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CCAGGTAGAAGAAGATGCCGG	0.657													T	232390003	G	T	232390003	3	4	364	1	0	0	0	0	1	0	0	0	10582	933	33	4	252	4	NMUR1	2	232390003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64570	232390003	10809370	2622	26124											
NMUR1	10316	broad.mit.edu	37	chr2	232393400	232393400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggggcaggcccaccAgcagcaccagcaggtccgac	9	2	13	17	1	0	0	0	0	0	0	2	1	2	0	5	4	3	5	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393400A>G	ENST00000305141.4	-	2	465	c.332T>C	c.(331-333)cTg>cCg	p.L111P		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	111					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		CAGGCCCACCAGCAGCACCAG	0.602													G	232393400	A	G	232393400	3	3	364	1	0	0	0	0	1	0	0	0	10582	188	7	3	956	3	NMUR1	2	232393400	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3397	232393400	10805973	2623	26125											
NMUR1	10316	broad.mit.edu	37	chr2	232393708	232393708	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtctccagggaggacagaGcaattgaggcagagaggagt	13	5	17	6	0	1	3	0	1	1	2	2	7	1	6	1	5	1	2	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232393708G>T	ENST00000305141.4	-	2	157	c.24C>A	c.(22-24)tgC>tgA	p.C8*		NM_006056.4	NP_006047.3	Q9HB89	NMUR1_HUMAN	neuromedin U receptor 1	8					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|calcium ion transport|calcium-mediated signaling|chloride transport|smooth muscle contraction	integral to plasma membrane|membrane fraction	neuromedin U receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(12)|pancreas(1)|skin(1)	24		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;8.37e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		GGAGGACAGAGCAATTGAGGC	0.572													T	232393708	G	T	232393708	4	4	364	1	0	0	0	0	0	1	0	0	10582	963	34	4	1264	4	NMUR1	2	232393708	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	308	232393708	10805665	2624	26126											
C2orf57	165100	broad.mit.edu	37	chr2	232457829	232457829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaggcctccttcaagaCggccacccccagggccatat	10	6	9	16	1	2	2	2	0	0	2	3	2	3	2	6	3	0	0	6	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232457829C>T	ENST00000313965.2	+	1	255	c.167C>T	c.(166-168)aCg>aTg	p.T56M		NM_152614.2	NP_689827.2	Q53QW1	CB057_HUMAN	chromosome 2 open reading frame 57	56										endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	19		Renal(207;0.025)|all_hematologic(139;0.0735)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;1.33e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)		TCCTTCAAGACGGCCACCCCC	0.542													T	232457829	C	T	232457829	3	4	364	1	0	0	0	0	1	0	0	0	2199	536	19	1	169	1	C2orf57	2	232457829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64121	232457829	10741544	2625	26127											
DIS3L2	129563	broad.mit.edu	37	chr2	232894770	232894770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggtggtcgtgaaactgCttcccgaggagcattggaag	9	10	14	8	2	1	1	0	1	1	0	3	4	2	3	1	4	3	2	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:232894770C>A	ENST00000325385.7	+	5	622	c.346C>A	c.(346-348)Ctt>Att	p.L116I	DIS3L2_ENST00000470087.1_3'UTR|DIS3L2_ENST00000360410.4_Missense_Mutation_p.L116I|DIS3L2_ENST00000409401.3_Missense_Mutation_p.L116I|DIS3L2_ENST00000273009.6_Missense_Mutation_p.L116I|DIS3L2_ENST00000409307.1_Missense_Mutation_p.L116I	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	116							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CGTGAAACTGCTTCCCGAGGA	0.418													A	232894770	C	A	232894770	3	1	364	1	0	0	0	0	1	0	0	0	4576	797	28	4	360	4	DIS3L2	2	232894770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	436941	232894770	10304603	2626	26128											
DIS3L2	129563	broad.mit.edu	37	chr2	233199425	233199425	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgcgctacggcgtgCagaagcgcatctactgcaac	8	8	13	12	4	1	1	0	0	1	1	1	1	1	1	0	2	8	5	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233199425C>T	ENST00000325385.7	+	19	2650	c.2374C>T	c.(2374-2376)Cag>Tag	p.Q792*	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000409307.1_Nonsense_Mutation_p.Q792*	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	792							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		CTACGGCGTGCAGAAGCGCAT	0.657													T	233199425	C	T	233199425	4	4	364	1	0	0	0	0	0	1	0	0	4576	711	25	2	2444	2	DIS3L2	2	233199425	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304655	233199425	9999948	2627	26129											
ECEL1	9427	broad.mit.edu	37	chr2	233349249	233349249	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcgccagcagcaccacctCctcttcctctgagaagtcct	7	10	7	17	1	2	1	0	1	2	1	6	2	5	1	6	0	2	2	6	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233349249C>A	ENST00000304546.1	-	6	1327	c.1117G>T	c.(1117-1119)Gag>Tag	p.E373*	ECEL1_ENST00000409941.1_Nonsense_Mutation_p.E373*	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	373					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)		AGCACCACCTCCTCTTCCTCT	0.592													A	233349249	C	A	233349249	4	1	364	1	0	0	0	0	0	1	0	0	4930	864	30	4	1262	4	ECEL1	2	233349249	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149824	233349249	9850124	2628	26130											
CHRND	1144	broad.mit.edu	37	chr2	233399045	233399045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagggaccagaacaattAcaatgaggtaagggaccaca	17	5	11	8	0	0	3	0	2	0	1	0	5	0	5	2	3	2	1	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233399045A>G	ENST00000258385.3	+	11	1396	c.1364A>G	c.(1363-1365)tAc>tGc	p.Y455C	CHRND_ENST00000543200.1_Missense_Mutation_p.Y440C|CHRND_ENST00000457943.2_Missense_Mutation_p.Y261C	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	455					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		CAGAACAATTACAATGAGGTA	0.493													G	233399045	A	G	233399045	3	3	364	1	0	0	0	0	1	0	0	0	3424	391	14	3	1406	3	CHRND	2	233399045	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49796	233399045	9800328	2629	26131											
CHRNG	1146	broad.mit.edu	37	chr2	233408362	233408362	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggttgtgctcaatgtcTccttgcggtctccacacaca	6	13	9	13	1	3	0	1	0	2	0	5	0	3	0	2	2	2	2	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233408362T>A	ENST00000389494.3	+	9	1009	c.988T>A	c.(988-990)Tcc>Acc	p.S330T	CHRNG_ENST00000389492.3_Missense_Mutation_p.S278T	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	330					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCTCAATGTCTCCTTGCGGTC	0.622													A	233408362	T	A	233408362	3	1	364	1	0	0	0	0	1	0	0	0	3426	1551	54	5	1022	5	CHRNG	2	233408362	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9317	233408362	9791011	2630	26132											
EIF4E2	9470	broad.mit.edu	37	chr2	233422710	233422710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaacagaatatcaaacaGattggcacctttgcctctgt	13	12	7	9	0	2	3	1	1	1	2	2	3	2	3	2	1	3	1	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233422710G>T	ENST00000409514.1	+	3	294	c.252G>T	c.(250-252)caG>caT	p.Q84H	EIF4E2_ENST00000409322.1_Intron|EIF4E2_ENST00000409394.1_Intron|EIF4E2_ENST00000409495.1_Missense_Mutation_p.Q84H|EIF4E2_ENST00000258416.3_Missense_Mutation_p.Q84H|EIF4E2_ENST00000409167.3_Intron|EIF4E2_ENST00000409098.1_Missense_Mutation_p.Q84H	NM_001282958.1	NP_001269887.1	O60573	IF4E2_HUMAN	eukaryotic translation initiation factor 4E family member 2	84					regulation of translation	cytoplasm|mRNA cap binding complex	RNA cap binding|translation initiation factor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8		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;2.3e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000912)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		ATATCAAACAGATTGGCACCT	0.463													T	233422710	G	T	233422710	3	4	364	1	0	0	0	0	1	0	0	0	5071	933	33	4	262	4	EIF4E2	2	233422710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14348	233422710	9776663	2631	26133											
GIGYF2	26058	broad.mit.edu	37	chr2	233681620	233681620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcagaaatgagggcaaaaCgggaagaggaagagcgaaag	19	1	17	4	2	0	4	0	1	0	3	0	7	0	6	0	4	2	2	0	4	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681620C>T	ENST00000373566.3	+	21	2511	c.2314C>T	c.(2314-2316)Cgg>Tgg	p.R772W	GIGYF2_ENST00000409480.1_Missense_Mutation_p.R772W|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R750W|GIGYF2_ENST00000409196.3_Missense_Mutation_p.R744W|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R771W|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R750W|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R581W			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	750	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAGGGCAAAACGGGAAGAGGA	0.478													T	233681620	C	T	233681620	3	4	364	1	0	0	0	0	1	0	0	0	6434	527	19	1	2388	1	GIGYF2	2	233681620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258910	233681620	9517753	2632	26134											
GIGYF2	26058	broad.mit.edu	37	chr2	233681715	233681715	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaaggaaaaggcgagaGgaagaagaacttgcccgaag	19	2	15	5	2	0	4	0	0	0	4	0	9	0	6	1	3	2	0	1	3	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233681715G>T	ENST00000373566.3	+	21	2606	c.2409G>T	c.(2407-2409)gaG>gaT	p.E803D	GIGYF2_ENST00000409480.1_Missense_Mutation_p.E803D|GIGYF2_ENST00000373563.4_Missense_Mutation_p.E781D|GIGYF2_ENST00000409196.3_Missense_Mutation_p.E775D|GIGYF2_ENST00000409451.3_Missense_Mutation_p.E802D|GIGYF2_ENST00000409547.1_Missense_Mutation_p.E781D|GIGYF2_ENST00000452341.2_Missense_Mutation_p.E612D			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	781	Gln-rich.|Glu-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		AAAGGCGAGAGGAAGAAGAAC	0.473													T	233681715	G	T	233681715	3	4	364	1	0	0	0	0	1	0	0	0	6434	991	35	4	2483	4	GIGYF2	2	233681715	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	233681715	9517658	2633	26135											
GIGYF2	26058	broad.mit.edu	37	chr2	233710533	233710533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagtaaataaagcccaaGatggatttacgcagtggtgt	14	9	13	5	1	0	1	0	0	0	1	0	3	0	3	1	3	2	2	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233710533G>T	ENST00000373566.3	+	27	3660	c.3463G>T	c.(3463-3465)Gat>Tat	p.D1155Y	GIGYF2_ENST00000409480.1_Missense_Mutation_p.D1155Y|GIGYF2_ENST00000373563.4_Missense_Mutation_p.D1133Y|GIGYF2_ENST00000409196.3_Missense_Mutation_p.D1127Y|GIGYF2_ENST00000409451.3_Missense_Mutation_p.D1154Y|GIGYF2_ENST00000409547.1_Missense_Mutation_p.D1133Y			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1133					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		TAAAGCCCAAGATGGATTTAC	0.423													T	233710533	G	T	233710533	3	4	364	1	0	0	0	0	1	0	0	0	6434	942	33	4	3561	4	GIGYF2	2	233710533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28818	233710533	9488840	2634	26136											
NGEF	25791	broad.mit.edu	37	chr2	233785012	233785012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctgcagcttaatctcCtcgggctgtaggatctcaag	8	11	9	13	1	2	0	1	0	2	0	6	1	3	1	3	2	2	4	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233785012C>A	ENST00000264051.3	-	5	1088	c.810G>T	c.(808-810)gaG>gaT	p.E270D	NGEF_ENST00000373552.4_Missense_Mutation_p.E178D|NGEF_ENST00000409079.1_Missense_Mutation_p.E178D	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	270	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GCTTAATCTCCTCGGGCTGTA	0.652													A	233785012	C	A	233785012	3	1	364	1	0	0	0	0	1	0	0	0	10470	680	24	4	1366	4	NGEF	2	233785012	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74479	233785012	9414361	2635	26137											
INPP5D	3635	broad.mit.edu	37	chr2	233986949	233986949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagaggacacaggcgacGaccctgaggaggacacaggt	14	2	16	9	2	0	2	0	1	0	1	0	8	0	6	1	6	0	0	1	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:233986949G>A	ENST00000359570.5	+	3	331	c.331G>A	c.(331-333)Gac>Aac	p.D111N	INPP5D_ENST00000474278.1_3'UTR|INPP5D_ENST00000538935.1_Missense_Mutation_p.D111N			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	111					apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CACAGGCGACGACCCTGAGGA	0.567													A	233986949	G	A	233986949	3	1	364	1	0	0	0	0	1	0	0	0	7814	1058	37	1	341	1	INPP5D	2	233986949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201937	233986949	9212424	2636	26138											
INPP5D	3635	broad.mit.edu	37	chr2	234113059	234113059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggctgcgctccttcacgtGctcatcctctgccgagggca	4	9	11	17	4	3	0	2	0	1	0	5	1	5	0	4	2	3	4	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234113059G>A	ENST00000359570.5	+	28	3227	c.3227G>A	c.(3226-3228)tGc>tAc	p.C1076Y	INPP5D_ENST00000450745.1_Missense_Mutation_p.C840Y|INPP5D_ENST00000455936.2_Missense_Mutation_p.C840Y			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		TCCTTCACGTGCTCATCCTCT	0.721													A	234113059	G	A	234113059	3	1	364	1	0	0	0	0	1	0	0	0	7814	1319	46	2	2873	2	INPP5D	2	234113059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126110	234113059	9086314	2637	26139											
ATG16L1	55054	broad.mit.edu	37	chr2	234201038	234201038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtttgtttcagtgcacCtgggttcaagtgcggctctg	4	16	13	8	1	3	0	2	0	1	0	3	0	3	0	1	2	2	6	1	2	1	4	rs144457166		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201038C>A	ENST00000392017.4	+	16	1843	c.1586C>A	c.(1585-1587)cCt>cAt	p.P529H	ATG16L1_ENST00000347464.5_Missense_Mutation_p.P366H|ATG16L1_ENST00000373525.5_Missense_Mutation_p.P350H|ATG16L1_ENST00000392020.4_Missense_Mutation_p.P510H|ATG16L1_ENST00000392018.1_Missense_Mutation_p.P546H	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	529				P -> T (in Ref. 5; BAB55412).	autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TTCAGTGCACCTGGGTTCAAG	0.562													A	234201038	C	A	234201038	3	1	364	1	0	0	0	0	1	0	0	0	1096	681	24	4	1648	4	ATG16L1	2	234201038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87979	234201038	8998335	2638	26140											
ATG16L1	55054	broad.mit.edu	37	chr2	234201945	234201945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggctctgctgagggctctCtgtatatctggagtgtgctc	5	13	13	10	0	3	1	0	1	3	0	5	2	3	2	0	3	2	5	0	3	2	2	rs147191546		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234201945C>A	ENST00000392017.4	+	17	1929	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	ATG16L1_ENST00000347464.5_Missense_Mutation_p.L395M|ATG16L1_ENST00000373525.5_Missense_Mutation_p.L379M|ATG16L1_ENST00000392020.4_Missense_Mutation_p.L539M|ATG16L1_ENST00000392018.1_Missense_Mutation_p.L575M	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	558					autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		TGAGGGCTCTCTGTATATCTG	0.517													A	234201945	C	A	234201945	3	1	364	1	0	0	0	0	1	0	0	0	1096	912	32	4	1738	4	ATG16L1	2	234201945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	907	234201945	8997428	2639	26141											
SAG	6295	broad.mit.edu	37	chr2	234235800	234235800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgaggtcaaagcattcGccacagacagcaccgatgcc	12	7	9	13	2	1	2	1	1	0	1	2	3	1	2	3	1	3	2	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234235800G>A	ENST00000409110.1	+	7	699	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	SAG_ENST00000449594.2_Missense_Mutation_p.A23T	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	157					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		CAAAGCATTCGCCACAGACAG	0.587													A	234235800	G	A	234235800	3	1	364	1	0	0	0	0	1	0	0	0	13899	1087	38	1	491	1	SAG	2	234235800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33855	234235800	8963573	2640	26142											
DGKD	8527	broad.mit.edu	37	chr2	234368407	234368407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgatgtctgctcagtgtcGcacggtgaagatctccatcc	8	12	10	11	2	3	3	1	2	2	1	6	3	4	3	2	1	1	2	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234368407G>A	ENST00000264057.2	+	23	2711	c.2699G>A	c.(2698-2700)cGc>cAc	p.R900H	DGKD_ENST00000409813.3_Missense_Mutation_p.R856H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	900					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	GCTCAGTGTCGCACGGTGAAG	0.567													A	234368407	G	A	234368407	3	1	364	1	0	0	0	0	1	0	0	0	4506	1087	38	1	2813	1	DGKD	2	234368407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132607	234368407	8830966	2641	26143											
UGT1A1	54658	broad.mit.edu	37	chr2	234526719	234526719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttaacttatttttttcGcattgcaggagtttgtttaa	8	23	6	4	1	0	0	0	0	0	0	1	1	0	1	0	1	2	4	0	1	3	11	rs28969669		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526719G>A	ENST00000373450.4	+	1	429	c.366G>A	c.(364-366)tcG>tcA	p.S122S		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TATTTTTTTCGCATTGCAGGA	0.353													A	234526719	G	A	234526719	2	1	364	1	0	0	0	0	0	0	0	1	17046	1074	38	1		1	UGT1A1	2	234526719	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158312	234526719	8672654	2642	26144											
UGT1A1	54658	broad.mit.edu	37	chr2	234526813	234526813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccttttgatgcctgtGgcttaattgttgccaaatat	8	18	8	7	0	0	2	0	2	0	0	1	2	1	2	3	1	2	2	3	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234526813G>T	ENST00000373450.4	+	1	523	c.460G>T	c.(460-462)Ggc>Tgc	p.G154C		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	TGATGCCTGTGGCTTAATTGT	0.438													T	234526813	G	T	234526813	3	4	364	1	0	0	0	0	1	0	0	0	17046	1348	47	4		4	UGT1A1	2	234526813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94	234526813	8672560	2643	26145											
UGT1A7	54577	broad.mit.edu	37	chr2	234590698	234590698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatggatgggagccactggTtcaccatgcagtcggtggtg	7	9	15	10	1	1	0	1	0	0	0	2	2	1	2	3	5	2	2	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234590698T>C	ENST00000373426.3	+	1	115	c.115T>C	c.(115-117)Ttc>Ctc	p.F39L	UGT1A9_ENST00000354728.4_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GAGCCACTGGTTCACCATGCA	0.562													C	234590698	T	C	234590698	3	2	364	1	0	0	0	0	1	0	0	0	17052	1725	60	3	117	3	UGT1A7	2	234590698	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63885	234590698	8608675	2644	26146											
UGT1A1	54658	broad.mit.edu	37	chr2	234669695	234669695	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgagctctgcatctgtctgGctgtttagaagtgactttgt	6	17	11	7	0	3	3	0	2	3	1	3	3	3	3	0	1	2	4	0	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234669695G>A	ENST00000360418.3	+	1	762	c.762G>A	c.(760-762)tgG>tgA	p.W254*	UGT1A3_ENST00000482026.1_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A1_ENST00000608383.1_Nonsense_Mutation_p.W254*|UGT1A4_ENST00000373409.3_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A8_ENST00000305208.5_Nonsense_Mutation_p.W254*|UGT1A1_ENST00000609767.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron			P22309	UD11_HUMAN		254					bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	CATCTGTCTGGCTGTTTAGAA	0.478													A	234669695	G	A	234669695	4	1	364	1	0	0	0	0	0	1	0	0	17046	1212	42	2	764	2	UGT1A1	2	234669695	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78997	234669695	8529678	2645	26147											
TRPM8	79054	broad.mit.edu	37	chr2	234862630	234862630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagctggggatgaaattGtgagcaatgccatctcctac	13	9	11	8	0	1	3	0	2	1	1	2	4	1	4	2	2	4	2	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234862630G>A	ENST00000324695.4	+	10	1250	c.1210G>A	c.(1210-1212)Gtg>Atg	p.V404M	TRPM8_ENST00000433712.2_Missense_Mutation_p.V92M|AC005538.5_ENST00000455991.1_RNA	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	404						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GGATGAAATTGTGAGCAATGC	0.393													A	234862630	G	A	234862630	3	1	364	1	0	0	0	0	1	0	0	0	16693	1377	48	2	1244	2	TRPM8	2	234862630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192935	234862630	8336743	2646	26148											
TRPM8	79054	broad.mit.edu	37	chr2	234878920	234878920	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgttcttcacctcccccttCgtggtcttctcctggaatgt	3	15	8	15	2	4	0	1	0	3	0	7	1	5	1	4	2	0	1	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:234878920C>T	ENST00000324695.4	+	17	2245	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	TRPM8_ENST00000433712.2_Intron	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	735						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	CCTCCCCCTTCGTGGTCTTCT	0.547													T	234878920	C	T	234878920	2	4	364	1	0	0	0	0	0	0	0	1	16693	883	31	1		1	TRPM8	2	234878920	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16290	234878920	8320453	2647	26149											
SH3BP4	23677	broad.mit.edu	37	chr2	235950399	235950399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggatagctccgggggtgCtgtccagcttcctgacacca	6	9	13	13	1	0	1	0	1	0	0	3	2	3	2	4	3	3	4	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:235950399C>T	ENST00000409212.1	+	4	1493	c.986C>T	c.(985-987)gCt>gTt	p.A329V	SH3BP4_ENST00000344528.4_Missense_Mutation_p.A329V|SH3BP4_ENST00000392011.2_Missense_Mutation_p.A329V			Q9P0V3	SH3B4_HUMAN	SH3-domain binding protein 4	329					endocytosis	clathrin-coated vesicle|coated pit|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(6)|stomach(3)|urinary_tract(2)	44		Breast(86;0.000332)|Renal(207;0.00339)|all_lung(227;0.00458)|all_hematologic(139;0.0296)|Lung NSC(271;0.0419)		Epithelial(121;7.66e-20)|BRCA - Breast invasive adenocarcinoma(100;0.000402)|Lung(119;0.00299)|LUSC - Lung squamous cell carcinoma(224;0.00645)|GBM - Glioblastoma multiforme(43;0.237)		TCCGGGGGTGCTGTCCAGCTT	0.632													T	235950399	C	T	235950399	3	4	364	1	0	0	0	0	1	0	0	0	14339	797	28	2	992	2	SH3BP4	2	235950399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1071479	235950399	7248974	2648	26150											
AGAP1	116987	broad.mit.edu	37	chr2	236649637	236649637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaagagattgtcgttgAtggacagagctatctgctgc	12	10	12	7	1	1	4	0	1	1	3	2	6	1	5	0	1	3	3	0	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236649637A>G	ENST00000304032.8	+	4	921	c.341A>G	c.(340-342)gAt>gGt	p.D114G	AGAP1_ENST00000336665.5_Missense_Mutation_p.D114G|AGAP1_ENST00000409457.1_Missense_Mutation_p.D114G|AGAP1_ENST00000409538.1_Missense_Mutation_p.D379G	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTGTCGTTGATGGACAGAGC	0.527													G	236649637	A	G	236649637	3	3	364	1	0	0	0	0	1	0	0	0	366	333	12	3	355	3	AGAP1	2	236649637	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	699238	236649637	6549736	2649	26151											
AGAP1	116987	broad.mit.edu	37	chr2	236715915	236715915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacccagacaaagagaaGaaaggcctggagagtcgtgc	15	3	14	9	2	0	4	0	0	0	4	1	7	0	4	2	2	2	0	2	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:236715915G>T	ENST00000304032.8	+	9	1570	c.990G>T	c.(988-990)aaG>aaT	p.K330N	AGAP1_ENST00000336665.5_Missense_Mutation_p.K330N|AGAP1_ENST00000409457.1_Missense_Mutation_p.K330N|AGAP1_ENST00000409538.1_Missense_Mutation_p.K595N|AGAP1_ENST00000428334.2_Missense_Mutation_p.K169N	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ACAAAGAGAAGAAAGGCCTGG	0.587													T	236715915	G	T	236715915	3	4	364	1	0	0	0	0	1	0	0	0	366	933	33	4	1024	4	AGAP1	2	236715915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66278	236715915	6483458	2650	26152											
GBX2	2637	broad.mit.edu	37	chr2	237074680	237074680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcttggaattggcattGcctgccttcacccgtttcca	5	14	8	14	1	2	0	1	0	1	0	3	1	3	1	5	2	2	2	5	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237074680G>A	ENST00000306318.4	-	2	1321	c.924C>T	c.(922-924)ggC>ggT	p.G308G	GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	308						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		AATTGGCATTGCCTGCCTTCA	0.597													A	237074680	G	A	237074680	2	1	364	1	0	0	0	0	0	0	0	1	6335	1306	46	2		2	GBX2	2	237074680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358765	237074680	6124693	2651	26153											
IQCA1	79781	broad.mit.edu	37	chr2	237272517	237272517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgaagaggttggctcccGtttcggtgcagatggcatgg	7	11	16	7	2	0	3	0	1	0	2	2	3	1	3	1	5	1	6	1	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:237272517G>A	ENST00000409907.3	-	15	2049	c.1775C>T	c.(1774-1776)aCg>aTg	p.T592M	IQCA1_ENST00000431676.2_Missense_Mutation_p.T551M|IQCA1_ENST00000309507.5_Missense_Mutation_p.T589M	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	592							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						GTTGGCTCCCGTTTCGGTGCA	0.517													A	237272517	G	A	237272517	3	1	364	1	0	0	0	0	1	0	0	0	7860	1145	40	1	713	1	IQCA1	2	237272517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197837	237272517	5926856	2652	26154											
COL6A3	1293	broad.mit.edu	37	chr2	238253054	238253054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacaagggggtgatccccGcatctgagagcttgagcaca	11	6	14	10	1	1	3	0	3	1	1	2	5	2	4	2	3	3	3	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238253054G>A	ENST00000295550.4	-	36	8059	c.7607C>T	c.(7606-7608)gCg>gTg	p.A2536V	COL6A3_ENST00000409809.1_Missense_Mutation_p.A2330V|COL6A3_ENST00000346358.4_Missense_Mutation_p.A2336V|COL6A3_ENST00000353578.4_Missense_Mutation_p.A2330V|COL6A3_ENST00000347401.3_Missense_Mutation_p.A2335V|COL6A3_ENST00000472056.1_Missense_Mutation_p.A1929V	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2536	Nonhelical region.|VWFA 11.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GGTGATCCCCGCATCTGAGAG	0.537													A	238253054	G	A	238253054	3	1	364	1	0	0	0	0	1	0	0	0	3732	1087	38	1	1962	1	COL6A3	2	238253054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	980537	238253054	4946319	2653	26155											
COL6A3	1293	broad.mit.edu	37	chr2	238277674	238277674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcattgctgaactgcaCgaccccaactctcactttac	11	10	5	15	1	2	1	2	1	1	0	3	3	2	1	2	0	5	2	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238277674C>T	ENST00000295550.4	-	10	4884	c.4432G>A	c.(4432-4434)Gtg>Atg	p.V1478M	COL6A3_ENST00000409809.1_Missense_Mutation_p.V1272M|COL6A3_ENST00000346358.4_Missense_Mutation_p.V1278M|COL6A3_ENST00000353578.4_Missense_Mutation_p.V1272M|COL6A3_ENST00000347401.3_Missense_Mutation_p.V1277M|COL6A3_ENST00000472056.1_Missense_Mutation_p.V871M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1478	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTGAACTGCACGACCCCAACT	0.527													T	238277674	C	T	238277674	3	4	364	1	0	0	0	0	1	0	0	0	3732	536	19	1	5241	1	COL6A3	2	238277674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24620	238277674	4921699	2654	26156											
COL6A3	1293	broad.mit.edu	37	chr2	238289974	238289974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgaaataaaattcaggcCtcacagtgtctgcatactgg	13	12	8	8	0	3	1	2	1	1	0	3	1	3	1	1	2	2	1	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238289974C>T	ENST00000295550.4	-	5	1933	c.1481G>A	c.(1480-1482)aGg>aAg	p.R494K	COL6A3_ENST00000409809.1_Missense_Mutation_p.R288K|COL6A3_ENST00000346358.4_Missense_Mutation_p.R494K|COL6A3_ENST00000353578.4_Missense_Mutation_p.R288K|COL6A3_ENST00000392004.3_Missense_Mutation_p.R288K|COL6A3_ENST00000347401.3_Missense_Mutation_p.R293K|COL6A3_ENST00000472056.1_Missense_Mutation_p.R87K|COL6A3_ENST00000392003.2_Missense_Mutation_p.R87K	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	494	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAATTCAGGCCTCACAGTGTC	0.507													T	238289974	C	T	238289974	3	4	364	1	0	0	0	0	1	0	0	0	3732	681	24	2	8259	2	COL6A3	2	238289974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12300	238289974	4909399	2655	26157											
COL6A3	1293	broad.mit.edu	37	chr2	238290034	238290034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgtccgatttccagcCtctggatgactttagcaatg	8	13	9	11	1	1	1	0	1	1	0	4	4	4	2	4	1	2	1	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238290034C>A	ENST00000295550.4	-	5	1873	c.1421G>T	c.(1420-1422)aGg>aTg	p.R474M	COL6A3_ENST00000409809.1_Missense_Mutation_p.R268M|COL6A3_ENST00000346358.4_Missense_Mutation_p.R474M|COL6A3_ENST00000353578.4_Missense_Mutation_p.R268M|COL6A3_ENST00000392004.3_Missense_Mutation_p.R268M|COL6A3_ENST00000347401.3_Missense_Mutation_p.R273M|COL6A3_ENST00000472056.1_Missense_Mutation_p.R67M|COL6A3_ENST00000392003.2_Missense_Mutation_p.R67M	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	474	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GATTTCCAGCCTCTGGATGAC	0.483													A	238290034	C	A	238290034	3	1	364	1	0	0	0	0	1	0	0	0	3732	681	24	4	8319	4	COL6A3	2	238290034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	238290034	4909339	2656	26158											
MLPH	79083	broad.mit.edu	37	chr2	238434343	238434343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgggtgccactcccatccgGaagagcagccgaccagcatc	9	5	11	16	2	0	1	0	0	0	1	3	3	2	2	5	2	4	2	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238434343G>A	ENST00000264605.3	+	7	1069	c.775G>A	c.(775-777)Gaa>Aaa	p.E259K	MLPH_ENST00000338530.4_Missense_Mutation_p.E259K|MLPH_ENST00000409373.1_Missense_Mutation_p.E219K|MLPH_ENST00000445024.2_Missense_Mutation_p.E259K|MLPH_ENST00000410032.1_Intron|MLPH_ENST00000468178.1_3'UTR	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	259							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		CTCCCATCCGGAAGAGCAGCC	0.662													A	238434343	G	A	238434343	3	1	364	1	0	0	0	0	1	0	0	0	9708	1175	41	2	797	2	MLPH	2	238434343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144309	238434343	4765030	2657	26159											
RAB17	64284	broad.mit.edu	37	chr2	238485900	238485900	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctcctgggcggtacCtggaaggtcacctcccgctc	5	8	13	15	2	2	0	1	0	1	0	5	1	3	1	4	5	1	2	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238485900C>A	ENST00000264601.3	-	4	1064	c.435G>T	c.(433-435)caG>caT	p.Q145H	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000538644.1_Splice_Site_p.Q18H|RAB17_ENST00000409822.1_Splice_Site_p.Q18H	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	145					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		TGGGCGGTACCTGGAAGGTCA	0.622													A	238485900	C	A	238485900	5	1	364	1	0	0	0	0	0	0	1	0	12990	695	24	4	215	4	RAB17	2	238485900	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51557	238485900	4713473	2658	26160											
RBM44	375316	broad.mit.edu	37	chr2	238725905	238725905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaataaaacatattctataCcttattcagagtcaaaacta	18	13	3	7	0	3	2	2	1	1	1	3	2	3	2	1	0	3	0	1	0	10	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238725905C>T	ENST00000316997.4	+	3	478	c.346C>T	c.(346-348)Cct>Tct	p.P116S	RBM44_ENST00000409864.1_Missense_Mutation_p.P116S|RBM44_ENST00000444524.2_Intron	NM_001080504.2	NP_001073973.2	Q6ZP01	RBM44_HUMAN	RNA binding motif protein 44	115							nucleotide binding|RNA binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(7)|ovary(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;3.74e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.3e-11)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000118)|Lung(119;0.0112)|LUSC - Lung squamous cell carcinoma(224;0.0266)		ATATTCTATACCTTATTCAGA	0.323													T	238725905	C	T	238725905	3	4	364	1	0	0	0	0	1	0	0	0	13226	507	18	2	352	2	RBM44	2	238725905	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	240005	238725905	4473468	2659	26161											
SCLY	51540	broad.mit.edu	37	chr2	238990708	238990708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccctgaaatcagtcagcGcattaaagccctgaaccagg	12	8	9	12	1	2	2	2	2	0	0	3	2	3	2	3	1	3	1	3	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:238990708G>A	ENST00000254663.6	+	6	801	c.659G>A	c.(658-660)cGc>cAc	p.R220H	SCLY_ENST00000555827.1_Missense_Mutation_p.R212H|SCLY_ENST00000373332.3_Missense_Mutation_p.R130H|SCLY_ENST00000409736.2_Missense_Mutation_p.R212H|SCLY_ENST00000422984.2_Missense_Mutation_p.R118H|SCLY_ENST00000429612.2_Intron	NM_016510.5	NP_057594.4	Q96I15	SCLY_HUMAN	selenocysteine lyase	212					cellular amino acid metabolic process	cytosol	pyridoxal phosphate binding|selenocysteine lyase activity|transferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	22		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;1.37e-23)|OV - Ovarian serous cystadenocarcinoma(60;4.6e-12)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;8.25e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000128)|Lung(119;0.0118)|LUSC - Lung squamous cell carcinoma(224;0.0285)		ATCAGTCAGCGCATTAAAGCC	0.547													A	238990708	G	A	238990708	3	1	364	1	0	0	0	0	1	0	0	0	14000	1087	38	1	657	1	SCLY	2	238990708	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264803	238990708	4208665	2660	26162											
KLHL30	377007	broad.mit.edu	37	chr2	239049946	239049946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggctggtcacttgtctggCcggcgacctgctgcaggtac	4	9	15	13	3	2	0	1	0	1	0	2	1	2	0	2	5	3	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239049946C>T	ENST00000409223.1	+	2	658	c.551C>T	c.(550-552)gCc>gTc	p.A184V	KLHL30_ENST00000305959.4_Missense_Mutation_p.A166V			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	184	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACTTGTCTGGCCGGCGACCTG	0.687													T	239049946	C	T	239049946	3	4	364	1	0	0	0	0	1	0	0	0	8442	739	26	2	553	2	KLHL30	2	239049946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59238	239049946	4149427	2661	26163											
KLHL30	377007	broad.mit.edu	37	chr2	239057697	239057697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccaagtacctgtcctcGcctcgctgtgctgcactgca	5	10	9	17	2	0	0	0	0	0	0	3	0	1	0	4	0	5	5	4	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239057697G>A	ENST00000409223.1	+	7	1496	c.1389G>A	c.(1387-1389)tcG>tcA	p.S463S	KLHL30_ENST00000305959.4_Silent_p.S445S			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	463										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		ACCTGTCCTCGCCTCGCTGTG	0.652													A	239057697	G	A	239057697	2	1	364	1	0	0	0	0	0	0	0	1	8442	1074	38	1		1	KLHL30	2	239057697	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7751	239057697	4141676	2662	26164											
ILKAP	80895	broad.mit.edu	37	chr2	239098610	239098610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatattgatgtggcaagaGaacctggaaataaagtaaaa	18	8	12	3	0	0	2	0	1	0	1	0	5	0	4	1	3	1	2	1	3	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239098610G>T	ENST00000254654.3	-	4	357	c.182C>A	c.(181-183)tCt>tAt	p.S61Y		NM_030768.2	NP_110395.1	Q9H0C8	ILKAP_HUMAN	integrin-linked kinase-associated serine/threonine phosphatase	61						cytoplasm|protein serine/threonine phosphatase complex	metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_lung(227;0.152)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;5.49e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.93e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.82e-08)|BRCA - Breast invasive adenocarcinoma(100;0.00012)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0163)		TGTGGCAAGAGAACCTGGAAA	0.438													T	239098610	G	T	239098610	3	4	364	1	0	0	0	0	1	0	0	0	7772	942	33	4	1032	4	ILKAP	2	239098610	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40913	239098610	4100763	2663	26165											
PER2	8864	broad.mit.edu	37	chr2	239161906	239161906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaaggcctggggcaGgtttggggtccccgagggga	7	5	22	7	1	0	1	0	0	0	1	1	4	1	3	3	10	0	2	3	10	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239161906G>T	ENST00000254657.3	-	19	3037	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	PER2_ENST00000254658.3_3'UTR|AC096574.4_ENST00000456601.1_RNA	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	920	Pro-rich.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GCCTGGGGCAGGTTTGGGGTC	0.627													T	239161906	G	T	239161906	3	4	364	1	0	0	0	0	1	0	0	0	11806	991	35	4	1029	4	PER2	2	239161906	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63296	239161906	4037467	2664	26166											
PER2	8864	broad.mit.edu	37	chr2	239180112	239180112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctggtcagagatgtacaGgatcttcccagacaccaggg	12	7	11	11	0	2	2	1	0	1	2	3	4	3	3	3	3	2	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239180112G>A	ENST00000254657.3	-	6	892	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	PER2_ENST00000355768.2_Silent_p.L205L|PER2_ENST00000440245.1_Silent_p.L205L|PER2_ENST00000254658.3_Silent_p.L205L	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	205	PAS 1.				circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		GAGATGTACAGGATCTTCCCA	0.527													A	239180112	G	A	239180112	2	1	364	1	0	0	0	0	0	0	0	1	11806	991	35	2		2	PER2	2	239180112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18206	239180112	4019261	2665	26167											
PER2	8864	broad.mit.edu	37	chr2	239186389	239186389	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccagcatccccagctcCttcccactgtcgtcacagtc	7	9	5	20	1	1	0	1	0	0	0	7	0	5	0	6	0	2	2	6	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:239186389C>A	ENST00000254657.3	-	2	468	c.189G>T	c.(187-189)aaG>aaT	p.K63N	PER2_ENST00000355768.2_Missense_Mutation_p.K63N|PER2_ENST00000440245.1_Missense_Mutation_p.K63N|PER2_ENST00000254658.3_Missense_Mutation_p.K63N	NM_022817.2	NP_073728.1	O15055	PER2_HUMAN	period circadian clock 2	63					circadian rhythm|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|signal transducer activity			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0423)|all_lung(227;0.114)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Lung NSC(271;0.223)|Hepatocellular(293;0.244)		Epithelial(121;6.84e-24)|OV - Ovarian serous cystadenocarcinoma(60;9.73e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;6.77e-05)|Lung(119;0.00941)|LUSC - Lung squamous cell carcinoma(224;0.0161)		TCCCCAGCTCCTTCCCACTGT	0.597													A	239186389	C	A	239186389	3	1	364	1	0	0	0	0	1	0	0	0	11806	680	24	4	3666	4	PER2	2	239186389	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6277	239186389	4012984	2666	26168											
HDAC4	9759	broad.mit.edu	37	chr2	240029749	240029749	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccggtcggcgttacctcGcatttgccccggaggcccgt	3	8	13	17	6	0	0	0	0	0	0	2	1	0	1	6	4	2	2	6	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240029749G>A	ENST00000345617.3	-	15	2885	c.2094C>T	c.(2092-2094)tgC>tgT	p.C698C	HDAC4_ENST00000541256.1_Silent_p.C672C|HDAC4_ENST00000543185.1_Silent_p.C282C	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	698	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCGTTACCTCGCATTTGCCCC	0.672													A	240029749	G	A	240029749	2	1	364	1	0	0	0	0	0	0	0	1	7064	1079	38	1		1	HDAC4	2	240029749	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	843360	240029749	3169624	2667	26169											
HDAC4	9759	broad.mit.edu	37	chr2	240061441	240061441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgacgctcccggagCtgttgttgggtgagctgggt	3	10	17	11	4	0	2	0	2	0	0	1	3	1	3	2	3	2	6	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240061441C>T	ENST00000345617.3	-	9	1708	c.917G>A	c.(916-918)aGc>aAc	p.S306N	HDAC4_ENST00000541256.1_Missense_Mutation_p.S275N|HDAC4_ENST00000543185.1_5'UTR|HDAC4_ENST00000553145.1_5'UTR	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	306	Interaction with MEF2A.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GCTCCCGGAGCTGTTGTTGGG	0.662													T	240061441	C	T	240061441	3	4	364	1	0	0	0	0	1	0	0	0	7064	797	28	2	2413	2	HDAC4	2	240061441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31692	240061441	3137932	2668	26170											
NDUFA10	4705	broad.mit.edu	37	chr2	240944661	240944661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtataaagtgcgattgtcctGcttgagccacggccctttat	8	13	10	10	2	0	1	0	1	0	0	1	2	1	1	3	1	3	2	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240944661G>A	ENST00000252711.2	-	8	956	c.856C>T	c.(856-858)Cag>Tag	p.Q286*	NDUFA10_ENST00000307300.4_Nonsense_Mutation_p.Q316*|NDUFA10_ENST00000404554.1_Nonsense_Mutation_p.Q286*	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	286					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CGATTGTCCTGCTTGAGCCAC	0.458													A	240944661	G	A	240944661	4	1	364	1	0	0	0	0	0	1	0	0	10336	1328	46	2	223	2	NDUFA10	2	240944661	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	883220	240944661	2254712	2669	26171											
NDUFA10	4705	broad.mit.edu	37	chr2	240951043	240951043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttggctcacctcatctcaGggagaaaggttttcttatag	9	14	10	8	0	4	1	3	0	2	1	5	2	4	1	1	3	0	3	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240951043G>T	ENST00000252711.2	-	6	840	c.740C>A	c.(739-741)cCt>cAt	p.P247H	NDUFA10_ENST00000307300.4_Missense_Mutation_p.P277H|NDUFA10_ENST00000404554.1_Missense_Mutation_p.P247H	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	247					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	CCTCATCTCAGGGAGAAAGGT	0.443													T	240951043	G	T	240951043	3	4	364	1	0	0	0	0	1	0	0	0	10336	1000	35	4	347	4	NDUFA10	2	240951043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6382	240951043	2248330	2670	26172											
NDUFA10	4705	broad.mit.edu	37	chr2	240961658	240961658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgccatctacagttatcaCtctgctgcgttctgtcagtc	7	15	7	12	1	5	0	2	0	3	0	6	0	5	0	1	0	4	3	1	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240961658C>G	ENST00000252711.2	-	2	275	c.175G>C	c.(175-177)Gtg>Ctg	p.V59L	NDUFA10_ENST00000307300.4_Missense_Mutation_p.V59L|NDUFA10_ENST00000404554.1_Missense_Mutation_p.V59L|NDUFA10_ENST00000407129.3_Missense_Mutation_p.V59L	NM_004544.3	NP_004535.1	O95299	NDUAA_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 10, 42kDa	59					mitochondrial electron transport, NADH to ubiquinone|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transport	mitochondrial matrix|mitochondrial respiratory chain complex I	ATP binding|NADH dehydrogenase (ubiquinone) activity|phosphotransferase activity, alcohol group as acceptor			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)	16		all_epithelial(40;4.26e-15)|Breast(86;4.4e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(121;7.82e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.5e-13)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.39e-05)|Lung(119;0.00519)|LUSC - Lung squamous cell carcinoma(224;0.0202)	NADH(DB00157)	ACAGTTATCACTCTGCTGCGT	0.403													G	240961658	C	G	240961658	3	3	364	1	0	0	0	0	1	0	0	0	10336	565	20	4	928	4	NDUFA10	2	240961658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10615	240961658	2237715	2671	26173											
OR6B2	389090	broad.mit.edu	37	chr2	240969099	240969099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaaggctgtatagaagaCggtgaccacggtgaggtgag	13	6	16	6	2	0	5	0	3	0	2	0	5	0	5	1	4	1	3	1	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:240969099C>T	ENST00000402971.2	-	1	807	c.748G>A	c.(748-750)Gtc>Atc	p.V250I		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	250					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GTATAGAAGACGGTGACCACG	0.577													T	240969099	C	T	240969099	3	4	364	1	0	0	0	0	1	0	0	0	11264	536	19	1	192	1	OR6B2	2	240969099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7441	240969099	2230274	2672	26174											
GPC1	2817	broad.mit.edu	37	chr2	241398589	241398589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccatgcttgccacccaGctgcgcagcttcgatggtga	7	8	12	14	2	0	1	0	1	0	0	1	2	0	1	3	2	5	4	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241398589G>T	ENST00000264039.2	+	2	557	c.309G>T	c.(307-309)caG>caT	p.Q103H		NM_002081.2	NP_002072.2	P35052	GPC1_HUMAN	glypican 1	103					axon guidance	anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)	9		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;4.51e-33)|all cancers(36;1.74e-30)|OV - Ovarian serous cystadenocarcinoma(60;4.73e-15)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;9.1e-06)|Colorectal(34;0.000487)|Lung(119;0.0013)|LUSC - Lung squamous cell carcinoma(224;0.0154)|COAD - Colon adenocarcinoma(134;0.0194)|READ - Rectum adenocarcinoma(96;0.0949)		TTGCCACCCAGCTGCGCAGCT	0.706													T	241398589	G	T	241398589	3	4	364	1	0	0	0	0	1	0	0	0	6651	962	34	4	315	4	GPC1	2	241398589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429490	241398589	1800784	2673	26175											
RNPEPL1	57140	broad.mit.edu	37	chr2	241516172	241516172	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctcctggatgggtccccGctgccgcagggtgagtccct	3	8	15	15	3	0	1	0	1	0	0	3	2	3	2	5	4	1	3	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241516172G>A	ENST00000270357.4	+	9	1631	c.1038G>A	c.(1036-1038)ccG>ccA	p.P346P	RNPEPL1_ENST00000464550.1_3'UTR	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)		ATGGGTCCCCGCTGCCGCAGG	0.692													A	241516172	G	A	241516172	2	1	364	1	0	0	0	0	0	0	0	1	13601	1074	38	1		1	RNPEPL1	2	241516172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117583	241516172	1683201	2674	26176											
CAPN10	11132	broad.mit.edu	37	chr2	241533978	241533978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggtgaagggtggagccaGgtagatgcagcggtagcatc	10	6	19	6	1	0	2	0	1	0	1	1	3	0	3	1	6	4	4	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241533978G>T	ENST00000391984.2	+	6	1045	c.849G>T	c.(847-849)caG>caT	p.Q283H	CAPN10_ENST00000391982.2_Missense_Mutation_p.Q283H|CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.Q283H|CAPN10_ENST00000404753.3_Missense_Mutation_p.Q283H	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	283	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGTGGAGCCAGGTAGATGCAG	0.607													T	241533978	G	T	241533978	3	4	364	1	0	0	0	0	1	0	0	0	2649	991	35	4	871	4	CAPN10	2	241533978	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17806	241533978	1665395	2675	26177											
CAPN10	11132	broad.mit.edu	37	chr2	241536168	241536168	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggggagtgggggaccgtgCagctacggggttcttggaga	6	7	21	7	3	1	1	0	0	1	1	1	4	1	3	1	7	3	3	1	7	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241536168C>T	ENST00000391984.2	+	9	1748	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*	CAPN10_ENST00000352879.4_Intron|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Intron|CAPN10_ENST00000404753.3_Nonsense_Mutation_p.Q518*	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	518	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GGGGACCGTGCAGCTACGGGG	0.677													T	241536168	C	T	241536168	4	4	364	1	0	0	0	0	0	1	0	0	2649	711	25	2	1586	2	CAPN10	2	241536168	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2190	241536168	1663205	2676	26178											
CAPN10	11132	broad.mit.edu	37	chr2	241537381	241537381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagctgcgtgccacatcGctacgcccaggaggtgagcc	7	6	14	14	3	0	2	0	2	0	0	1	3	0	3	3	2	5	3	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241537381G>A	ENST00000391984.2	+	10	2016	c.1820G>A	c.(1819-1821)cGc>cAc	p.R607H	CAPN10_ENST00000352879.4_Missense_Mutation_p.R73H|CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Missense_Mutation_p.R452H|CAPN10_ENST00000404753.3_Missense_Mutation_p.R607H	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	607	Domain III 2.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		GTGCCACATCGCTACGCCCAG	0.667													A	241537381	G	A	241537381	3	1	364	1	0	0	0	0	1	0	0	0	2649	1087	38	1	1858	1	CAPN10	2	241537381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1213	241537381	1661992	2677	26179											
KIF1A	547	broad.mit.edu	37	chr2	241676556	241676556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggggtcgatcagggactCgtcggtctctggagtgtttc	4	13	16	8	3	2	0	1	0	1	0	7	3	2	2	0	5	0	2	0	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241676556C>T	ENST00000498729.2	-	38	4177	c.3931G>A	c.(3931-3933)Gag>Aag	p.E1311K	KIF1A_ENST00000320389.7_Missense_Mutation_p.E1210K	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1210					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		ATCAGGGACTCGTCGGTCTCT	0.612													T	241676556	C	T	241676556	3	4	364	1	0	0	0	0	1	0	0	0	8341	893	31	1	1492	1	KIF1A	2	241676556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139175	241676556	1522817	2678	26180											
KIF1A	547	broad.mit.edu	37	chr2	241685311	241685311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagctgtctaggaggaggCcttctgggggcactgctgct	6	9	16	10	0	2	1	0	0	2	1	2	3	2	3	1	5	3	4	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241685311C>T	ENST00000498729.2	-	31	3464	c.3218G>A	c.(3217-3219)gGc>gAc	p.G1073D	KIF1A_ENST00000320389.7_Missense_Mutation_p.G972D	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	972					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		TAGGAGGAGGCCTTCTGGGGG	0.632													T	241685311	C	T	241685311	3	4	364	1	0	0	0	0	1	0	0	0	8341	739	26	2	2233	2	KIF1A	2	241685311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8755	241685311	1514062	2679	26181											
KIF1A	547	broad.mit.edu	37	chr2	241722503	241722503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttgcccagggtggtcagCgacttgttgatgttggcccc	5	11	13	12	1	1	1	1	1	0	0	1	2	1	1	4	3	2	2	4	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241722503C>T	ENST00000498729.2	-	9	1068	c.822G>A	c.(820-822)tcG>tcA	p.S274S	KIF1A_ENST00000320389.7_Silent_p.S274S	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	274	Kinesin-motor.				anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGTGGTCAGCGACTTGTTGA	0.652													T	241722503	C	T	241722503	2	4	364	1	0	0	0	0	0	0	0	1	8341	755	27	1		1	KIF1A	2	241722503	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37192	241722503	1476870	2680	26182											
AGXT	189	broad.mit.edu	37	chr2	241815387	241815387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtcatcagcctgtacaGcctgagagagagcctggccc	8	6	11	16	1	2	2	2	1	0	2	2	4	2	2	6	1	4	1	6	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241815387G>A	ENST00000307503.3	+	8	1199	c.812G>A	c.(811-813)aGc>aAc	p.S271N		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	271					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	AGCCTGTACAGCCTGAGAGAG	0.632													A	241815387	G	A	241815387	3	1	364	1	0	0	0	0	1	0	0	0	404	971	34	2	842	2	AGXT	2	241815387	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92884	241815387	1383986	2681	26183											
AGXT	189	broad.mit.edu	37	chr2	241817440	241817440	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggcccctcctgcaggCgctccggcttcccacagtca	6	6	10	19	2	1	0	1	0	0	0	4	0	4	0	6	3	2	3	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241817440C>T	ENST00000307503.3	+	10	1331	c.944C>T	c.(943-945)gCg>gTg	p.A315V		NM_000030.2	NP_000021.1	P21549	SPYA_HUMAN	alanine-glyoxylate aminotransferase	315					glyoxylate metabolic process|protein targeting to peroxisome	mitochondrial matrix|peroxisomal matrix	alanine-glyoxylate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|serine-pyruvate transaminase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)	18		all_epithelial(40;1.61e-15)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)	Glycine(DB00145)|L-Alanine(DB00160)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CTCCTGCAGGCGCTCCGGCTT	0.602													T	241817440	C	T	241817440	5	4	364	1	0	0	0	0	0	0	1	0	404	782	27	1	982	1	AGXT	2	241817440	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2053	241817440	1381933	2682	26184											
C2orf54	79919	broad.mit.edu	37	chr2	241835229	241835229	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggaaggcctccaggccacgGgagtagtccacgatgaagcg	10	5	15	11	3	0	1	0	1	0	0	2	4	2	3	4	4	1	1	4	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:241835229G>T	ENST00000388934.4	-	1	344	c.186C>A	c.(184-186)tcC>tcA	p.S62S		NM_001085437.1	NP_001078906	Q08AI8	CB054_HUMAN	chromosome 2 open reading frame 54	62										haematopoietic_and_lymphoid_tissue(1)|lung(4)|prostate(1)	6		all_epithelial(40;3.99e-16)|Breast(86;2.35e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|Lung NSC(271;0.094)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;8.14e-32)|all cancers(36;4.77e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;4.88e-06)|Lung(119;0.000452)|LUSC - Lung squamous cell carcinoma(224;0.00415)|Colorectal(34;0.021)|COAD - Colon adenocarcinoma(134;0.15)		CCAGGCCACGGGAGTAGTCCA	0.662													T	241835229	G	T	241835229	2	4	364	1	0	0	0	0	0	0	0	1	2196	1219	43	4		4	C2orf54	2	241835229	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17789	241835229	1364144	2683	26185											
SNED1	25992	broad.mit.edu	37	chr2	242021117	242021117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctggcaactgttcagaaaaCccctgtcagaacggaggcac	12	6	10	13	1	2	2	2	0	0	2	2	3	2	3	3	3	3	3	3	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242021117C>T	ENST00000310397.8	+	28	3942	c.3942C>T	c.(3940-3942)aaC>aaT	p.N1314N	MTERFD2_ENST00000464344.2_Intron|SNED1_ENST00000342631.6_Silent_p.N1281N|SNED1_ENST00000405547.3_Silent_p.N1281N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1314	EGF-like 15.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTTCAGAAAACCCCTGTCAGA	0.607													T	242021117	C	T	242021117	2	4	364	1	0	0	0	0	0	0	0	1	14939	506	18	2		2	SNED1	2	242021117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185888	242021117	1178256	2684	26186											
PASK	23178	broad.mit.edu	37	chr2	242046007	242046007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcagacggggatcccCgggatgcaaacagccttggc	9	5	15	12	2	1	1	1	0	0	1	2	3	2	3	3	5	4	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242046007C>T	ENST00000405260.1	-	18	4644	c.3946G>A	c.(3946-3948)Ggg>Agg	p.G1316R	PASK_ENST00000539818.1_Missense_Mutation_p.G1100R|PASK_ENST00000358649.4_Missense_Mutation_p.G1323R|PASK_ENST00000544142.1_Missense_Mutation_p.G1130R|PASK_ENST00000234040.4_Missense_Mutation_p.G1316R	NM_001252120.1	NP_001239049.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	1316					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CGGGGATCCCCGGGATGCAAA	0.552													T	242046007	C	T	242046007	3	4	364	1	0	0	0	0	1	0	0	0	11548	652	23	1	29	1	PASK	2	242046007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24890	242046007	1153366	2685	26187											
PASK	23178	broad.mit.edu	37	chr2	242054372	242054372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagctcagagagagaacCgagtatggatcactgatctt	13	9	10	9	1	3	3	2	1	1	2	4	7	4	4	2	1	2	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242054372C>T	ENST00000403638.3	-	14	3510	c.3419G>A	c.(3418-3420)cGg>cAg	p.R1140Q	PASK_ENST00000539818.1_Intron|PASK_ENST00000358649.4_Intron|PASK_ENST00000544142.1_Intron|PASK_ENST00000234040.4_Intron|PASK_ENST00000405260.1_Intron	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	0	Protein kinase.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAGAGAGAACCGAGTATGGAT	0.478													T	242054372	C	T	242054372	3	4	364	1	0	0	0	0	1	0	0	0	11548	667	23	1		1	PASK	2	242054372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8365	242054372	1145001	2686	26188											
PASK	23178	broad.mit.edu	37	chr2	242062244	242062244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttgggagtactcgcccTcacaggccgccaacccctcc	7	8	8	18	2	1	0	1	0	0	0	3	1	2	1	6	2	2	1	6	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242062244T>G	ENST00000403638.3	-	12	3066	c.2975A>C	c.(2974-2976)gAg>gCg	p.E992A	PASK_ENST00000539818.1_Missense_Mutation_p.E776A|PASK_ENST00000358649.4_Missense_Mutation_p.E992A|PASK_ENST00000544142.1_Missense_Mutation_p.E806A|PASK_ENST00000234040.4_Missense_Mutation_p.E992A|PASK_ENST00000405260.1_Missense_Mutation_p.E992A	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	992					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GTACTCGCCCTCACAGGCCGC	0.587													G	242062244	T	G	242062244	3	3	364	1	0	0	0	0	1	0	0	0	11548	1551	54	5	1024	5	PASK	2	242062244	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7872	242062244	1137129	2687	26189											
PASK	23178	broad.mit.edu	37	chr2	242065692	242065692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggccagcagccccgcGcatcacgatcacgggcgtgg	7	4	14	16	5	2	0	2	0	0	0	2	1	2	0	3	3	3	3	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242065692G>A	ENST00000403638.3	-	10	2729	c.2638C>T	c.(2638-2640)Cgc>Tgc	p.R880C	PASK_ENST00000539818.1_Missense_Mutation_p.R664C|PASK_ENST00000358649.4_Missense_Mutation_p.R880C|PASK_ENST00000544142.1_Missense_Mutation_p.R694C|PASK_ENST00000234040.4_Missense_Mutation_p.R880C|PASK_ENST00000405260.1_Missense_Mutation_p.R880C	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	880					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GCAGCCCCGCGCATCACGATC	0.642													A	242065692	G	A	242065692	3	1	364	1	0	0	0	0	1	0	0	0	11548	1087	38	1	1369	1	PASK	2	242065692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3448	242065692	1133681	2688	26190											
PASK	23178	broad.mit.edu	37	chr2	242066235	242066235	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacaggtctctgcctcccaGatcgcaggacgacacaggag	10	5	12	14	2	1	1	0	0	1	1	4	4	2	3	2	3	1	2	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242066235G>A	ENST00000403638.3	-	10	2186	c.2095C>T	c.(2095-2097)Ctg>Ttg	p.L699L	PASK_ENST00000539818.1_Silent_p.L483L|PASK_ENST00000358649.4_Silent_p.L699L|PASK_ENST00000544142.1_Silent_p.L513L|PASK_ENST00000234040.4_Silent_p.L699L|PASK_ENST00000405260.1_Silent_p.L699L	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	699					regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		CTGCCTCCCAGATCGCAGGAC	0.667													A	242066235	G	A	242066235	2	1	364	1	0	0	0	0	0	0	0	1	11548	933	33	2		2	PASK	2	242066235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	543	242066235	1133138	2689	26191											
PASK	23178	broad.mit.edu	37	chr2	242075446	242075446	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaaaccaggaatcaggaaAgtgatattctagaaaacaaa	21	7	8	5	0	2	3	1	1	1	2	2	5	2	5	1	2	2	0	1	2	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242075446A>C	ENST00000403638.3	-	8	1237	c.1146T>G	c.(1144-1146)acT>acG	p.T382T	PASK_ENST00000539818.1_Silent_p.T166T|PASK_ENST00000358649.4_Silent_p.T382T|PASK_ENST00000544142.1_Silent_p.T196T|PASK_ENST00000234040.4_Silent_p.T382T|PASK_ENST00000405260.1_Silent_p.T382T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	382	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		GAATCAGGAAAGTGATATTCT	0.532													C	242075446	A	C	242075446	2	2	364	1	0	0	0	0	0	0	0	1	11548	59	3	5		5	PASK	2	242075446	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9211	242075446	1123927	2690	26192											
PASK	23178	broad.mit.edu	37	chr2	242076463	242076463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaccaaacagtgtcagcgCgaagctgtggttgatgccgt	10	9	13	9	3	1	1	1	1	0	0	1	2	1	1	2	1	5	3	2	1	3	2	rs145134713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242076463C>T	ENST00000403638.3	-	7	1184	c.1093G>A	c.(1093-1095)Gcg>Acg	p.A365T	PASK_ENST00000539818.1_Missense_Mutation_p.A149T|PASK_ENST00000358649.4_Missense_Mutation_p.A365T|PASK_ENST00000544142.1_Missense_Mutation_p.A179T|PASK_ENST00000234040.4_Missense_Mutation_p.A365T|PASK_ENST00000405260.1_Missense_Mutation_p.A365T	NM_001252124.1	NP_001239053.1	Q96RG2	PASK_HUMAN	PAS domain containing serine/threonine kinase	365	PAS 2.				regulation of transcription, DNA-dependent	Golgi apparatus	ATP binding|identical protein binding|protein serine/threonine kinase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(20)|ovary(4)|prostate(4)|skin(1)|stomach(1)|urinary_tract(2)	53		all_cancers(19;4.46e-39)|all_epithelial(40;1.34e-17)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00481)|Lung NSC(271;0.017)|Ovarian(221;0.0228)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.34e-31)|all cancers(36;1e-28)|OV - Ovarian serous cystadenocarcinoma(60;3.53e-14)|Kidney(56;4.31e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.35e-08)|BRCA - Breast invasive adenocarcinoma(100;5.64e-06)|Lung(119;0.000596)|LUSC - Lung squamous cell carcinoma(224;0.00481)|Colorectal(34;0.014)|COAD - Colon adenocarcinoma(134;0.0968)		AGTGTCAGCGCGAAGCTGTGG	0.632													T	242076463	C	T	242076463	3	4	364	1	0	0	0	0	1	0	0	0	11548	768	27	1	2926	1	PASK	2	242076463	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1017	242076463	1122910	2691	26193											
PPP1R7	5510	broad.mit.edu	37	chr2	242097264	242097264	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaaaccatcaacctggAcagagatgcagaggtaatgc	15	6	11	9	0	1	2	1	0	0	2	1	5	1	4	2	3	4	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242097264A>T	ENST00000234038.6	+	3	698	c.224A>T	c.(223-225)gAc>gTc	p.D75V	PPP1R7_ENST00000407025.1_Missense_Mutation_p.D75V|PPP1R7_ENST00000404405.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000272983.8_Missense_Mutation_p.D32V|PPP1R7_ENST00000406106.3_Missense_Mutation_p.D75V|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000402734.1_Missense_Mutation_p.D16V|PPP1R7_ENST00000401987.1_Missense_Mutation_p.D32V	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	75						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		ATCAACCTGGACAGAGATGCA	0.473													T	242097264	A	T	242097264	3	4	364	1	0	0	0	0	1	0	0	0	12458	275	10	5	234	5	PPP1R7	2	242097264	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20801	242097264	1102109	2692	26194											
PPP1R7	5510	broad.mit.edu	37	chr2	242102714	242102714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaggcaatcgaaaatatCgacaccttaaccaacctgga	16	6	6	13	2	0	0	0	0	0	0	2	3	0	1	4	2	2	1	4	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242102714C>T	ENST00000234038.6	+	7	1086	c.612C>T	c.(610-612)atC>atT	p.I204I	PPP1R7_ENST00000407025.1_Silent_p.I204I|PPP1R7_ENST00000404405.3_Silent_p.I198I|PPP1R7_ENST00000272983.8_Silent_p.I161I|PPP1R7_ENST00000406106.3_Silent_p.I204I|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000402734.1_Silent_p.I145I|PPP1R7_ENST00000401987.1_Silent_p.I161I	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	204						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TCGAAAATATCGACACCTTAA	0.502													T	242102714	C	T	242102714	2	4	364	1	0	0	0	0	0	0	0	1	12458	874	31	1		1	PPP1R7	2	242102714	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5450	242102714	1096659	2693	26195											
PPP1R7	5510	broad.mit.edu	37	chr2	242122067	242122067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtccccagatgaaCgacaatctccttgagagctg	9	11	11	10	1	1	3	0	2	1	2	3	5	2	3	3	0	2	1	3	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242122067C>T	ENST00000234038.6	+	10	1386	c.912C>T	c.(910-912)aaC>aaT	p.N304N	PPP1R7_ENST00000407025.1_Silent_p.N304N|PPP1R7_ENST00000272983.8_Silent_p.N261N	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	304						cytoplasm|nucleus	protein binding|protein phosphatase type 1 regulator activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		CCCAGATGAACGACAATCTCC	0.597													T	242122067	C	T	242122067	2	4	364	1	0	0	0	0	0	0	0	1	12458	535	19	1		1	PPP1R7	2	242122067	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19353	242122067	1077306	2694	26196											
SEPT2	4735	broad.mit.edu	37	chr2	242287575	242287575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaatgaggacatgaataAagaccagatcttgctggaaa	17	7	12	5	0	1	5	0	2	1	3	1	8	1	7	1	3	1	1	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242287575A>G	ENST00000391973.2	+	11	1481	c.953A>G	c.(952-954)aAa>aGa	p.K318R	SEPT2_ENST00000391971.2_Missense_Mutation_p.K318R|SEPT2_ENST00000360051.3_Missense_Mutation_p.K318R|SEPT2_ENST00000407971.1_Missense_Mutation_p.K278R|SEPT2_ENST00000402092.2_Missense_Mutation_p.K318R|SEPT2_ENST00000401990.1_Missense_Mutation_p.K328R	NM_006155.1	NP_006146.1	Q15019	SEPT2_HUMAN	septin 2	318					cell division|mitosis	actin cytoskeleton|cleavage furrow|condensed chromosome kinetochore|midbody|nucleolus|septin complex|spindle	GTP binding			central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)	12		all_cancers(19;7.62e-41)|all_epithelial(40;1.71e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;1.24e-34)|all cancers(36;7.15e-32)|OV - Ovarian serous cystadenocarcinoma(60;1.21e-15)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;3.16e-06)|Lung(119;7.81e-05)|LUSC - Lung squamous cell carcinoma(224;0.000742)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0889)		GACATGAATAAAGACCAGATC	0.373													G	242287575	A	G	242287575	3	3	364	1	0	0	0	0	1	0	0	0	14157	14	1	3	991	3	SEPT2	2	242287575	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	165508	242287575	911798	2695	26197											
FARP2	9855	broad.mit.edu	37	chr2	242402851	242402851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatgagttccacagaggcttCctgcgcgaggtggagcagag	9	8	15	9	2	0	3	0	1	0	2	2	5	2	4	2	3	2	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242402851C>T	ENST00000264042.3	+	16	1949	c.1779C>T	c.(1777-1779)ttC>ttT	p.F593F	FARP2_ENST00000373287.4_Silent_p.F593F|FARP2_ENST00000545004.1_Silent_p.F593F	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	593	DH.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.F593L(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		ACAGAGGCTTCCTGCGCGAGG	0.587													T	242402851	C	T	242402851	2	4	364	1	0	0	0	0	0	0	0	1	5726	854	30	2		2	FARP2	2	242402851	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115276	242402851	796522	2696	26198											
STK25	10494	broad.mit.edu	37	chr2	242439588	242439588	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccacccccagcaggacCtttgatgtctcggtggatct	8	10	9	14	1	2	1	0	1	2	0	4	3	3	3	4	3	1	1	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242439588C>A	ENST00000316586.4	-	5	776	c.427G>T	c.(427-429)Gct>Tct	p.A143S	STK25_ENST00000405585.1_Splice_Site_p.A66S|STK25_ENST00000401869.1_Splice_Site_p.A143S|STK25_ENST00000405883.3_Splice_Site_p.A66S|STK25_ENST00000543554.1_Splice_Site_p.A49S|STK25_ENST00000403346.3_Splice_Site_p.A143S|STK25_ENST00000535007.1_Splice_Site_p.A49S	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	143	Protein kinase.				response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CCAGCAGGACCTTTGATGTCT	0.597													A	242439588	C	A	242439588	5	1	364	1	0	0	0	0	0	0	1	0	15390	695	24	4	885	4	STK25	2	242439588	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36737	242439588	759785	2697	26199											
THAP4	51078	broad.mit.edu	37	chr2	242542409	242542409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctgggcgctgacaaaggCcaccttgttggtgtcgggct	5	11	15	10	2	1	1	0	1	1	0	2	1	1	1	2	4	0	4	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242542409C>T	ENST00000407315.1	-	4	1917	c.1486G>A	c.(1486-1488)Gcc>Acc	p.A496T	THAP4_ENST00000402136.1_Missense_Mutation_p.A84T|THAP4_ENST00000497486.1_5'UTR|THAP4_ENST00000402545.1_Missense_Mutation_p.A84T	NM_015963.5	NP_057047.4	Q8WY91	THAP4_HUMAN	THAP domain containing 4	496							DNA binding|metal ion binding			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	9		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;2.3e-33)|all cancers(36;8.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.68e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0844)		CTGACAAAGGCCACCTTGTTG	0.632													T	242542409	C	T	242542409	3	4	364	1	0	0	0	0	1	0	0	0	15946	739	26	2	259	2	THAP4	2	242542409	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102821	242542409	656964	2698	26200											
ING5	84289	broad.mit.edu	37	chr2	242662453	242662453	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcctgtgccaccaggtCtcctatggggagatgattgg	7	11	13	10	0	1	2	0	1	1	1	2	3	1	2	4	4	3	0	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242662453C>A	ENST00000313552.6	+	6	608	c.582C>A	c.(580-582)gtC>gtA	p.V194V	ING5_ENST00000406941.1_Silent_p.V194V	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	194					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		GCCACCAGGTCTCCTATGGGG	0.612													A	242662453	C	A	242662453	2	1	364	1	0	0	0	0	0	0	0	1	7797	900	32	4		4	ING5	2	242662453	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120044	242662453	536920	2699	26201											
NEU4	129807	broad.mit.edu	37	chr2	242757436	242757436	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgccctcaggccgcctgCtggtacccgcctacacctac	6	7	9	19	2	1	0	1	0	0	0	1	0	1	0	6	2	6	3	6	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr2:242757436C>T	ENST00000391969.2	+	5	1228	c.517C>T	c.(517-519)Ctg>Ttg	p.L173L	NEU4_ENST00000325935.6_Silent_p.L186L|NEU4_ENST00000404257.1_Silent_p.L185L|NEU4_ENST00000405370.1_Silent_p.L173L|NEU4_ENST00000407683.1_Silent_p.L173L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	173						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		AGGCCGCCTGCTGGTACCCGC	0.677													T	242757436	C	T	242757436	2	4	364	1	0	0	0	0	0	0	0	1	10420	796	28	2		2	NEU4	2	242757436	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94983	242757436	441937	2700	26202											
CHL1	10752	broad.mit.edu	37	chr3	447371	447371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaatggaagttctacaGcaacttttccccttcgggca	12	10	8	11	1	1	0	0	0	1	0	3	1	2	1	2	2	4	4	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:447371G>T	ENST00000256509.2	+	28	4294	c.3652G>T	c.(3652-3654)Gca>Tca	p.A1218S	CHL1_ENST00000397491.2_Missense_Mutation_p.A1202S	NM_001253387.1|NM_001253388.1|NM_006614.3	NP_001240316.1|NP_001240317.1|NP_006605.2	O00533	CHL1_HUMAN	cell adhesion molecule L1-like	1202					axon guidance|cell adhesion|signal transduction	integral to membrane|plasma membrane|proteinaceous extracellular matrix				NS(1)|central_nervous_system(5)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|lung(31)|ovary(1)|prostate(4)|skin(10)|stomach(1)	93		all_cancers(2;1.14e-06)|all_epithelial(2;0.00367)|all_lung(1;0.061)|Lung NSC(2;0.201)		Epithelial(13;5.36e-06)|all cancers(10;1.4e-05)|OV - Ovarian serous cystadenocarcinoma(96;0.00323)|COAD - Colon adenocarcinoma(1;0.00925)|Colorectal(20;0.0198)		AAGTTCTACAGCAACTTTTCC	0.438													T	447371	G	T	447371	3	4	364	1	0	0	0	0	1	0	0	0	3379	971	34	4	3754	4	CHL1	3	447371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		447371	197575059	2701	26203											
CNTN6	27255	broad.mit.edu	37	chr3	1425035	1425035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgcttctgaaatggaGgtttcatggaatgctattgc	8	17	10	6	0	3	1	1	1	2	0	3	3	3	3	0	3	3	3	0	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:1425035G>T	ENST00000446702.2	+	19	3087	c.2460G>T	c.(2458-2460)gaG>gaT	p.E820D	CNTN6_ENST00000539053.1_Missense_Mutation_p.E748D|CNTN6_ENST00000350110.2_Missense_Mutation_p.E820D			Q9UQ52	CNTN6_HUMAN	contactin 6	820	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CTGAAATGGAGGTTTCATGGA	0.433													T	1425035	G	T	1425035	3	4	364	1	0	0	0	0	1	0	0	0	3676	991	35	4	2530	4	CNTN6	3	1425035	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	977664	1425035	196597395	2702	26204											
CNTN4	152330	broad.mit.edu	37	chr3	3078900	3078900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagacattcacagcgacCgtggtgggtttgaacccttg	9	9	14	9	2	1	2	1	1	0	1	1	4	1	3	2	3	2	1	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3078900C>T	ENST00000397461.1	+	17	2364	c.1980C>T	c.(1978-1980)acC>acT	p.T660T	CNTN4_ENST00000427331.1_Silent_p.T660T|CNTN4_ENST00000397459.2_Silent_p.T332T|CNTN4_ENST00000448906.2_Silent_p.T332T|CNTN4_ENST00000358480.3_Silent_p.T441T|CNTN4_ENST00000418658.1_Silent_p.T660T	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	660	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TCACAGCGACCGTGGTGGGTT	0.498													T	3078900	C	T	3078900	2	4	364	1	0	0	0	0	0	0	0	1	3674	639	23	1		1	CNTN4	3	3078900	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1653865	3078900	194943530	2703	26205											
CNTN4	152330	broad.mit.edu	37	chr3	3095607	3095607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaaattaagccattcagCgacggaggagatggcagcag	15	6	13	7	2	1	2	1	0	0	2	1	5	1	3	1	3	3	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3095607C>T	ENST00000397461.1	+	23	3312	c.2928C>T	c.(2926-2928)agC>agT	p.S976S	CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Silent_p.S976S|CNTN4_ENST00000397459.2_Silent_p.S648S|CNTN4_ENST00000448906.2_Silent_p.S648S|CNTN4_ENST00000358480.3_Silent_p.S757S|CNTN4_ENST00000418658.1_Silent_p.S976S	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	976	Fibronectin type-III 4.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGCCATTCAGCGACGGAGGAG	0.388													T	3095607	C	T	3095607	2	4	364	1	0	0	0	0	0	0	0	1	3674	767	27	1		1	CNTN4	3	3095607	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16707	3095607	194926823	2704	26206											
IL5RA	3568	broad.mit.edu	37	chr3	3118281	3118281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataatcacaatgacaaacCactctctcaagggcttgtgt	13	10	6	12	0	3	1	2	1	1	0	4	1	3	1	2	1	1	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3118281C>A	ENST00000446632.2	-	10	1599	c.1025G>T	c.(1024-1026)tGg>tTg	p.W342L	IL5RA_ENST00000418488.2_Missense_Mutation_p.W247L|IL5RA_ENST00000445864.2_Missense_Mutation_p.W133L|IL5RA_ENST00000256452.3_Missense_Mutation_p.W342L|IL5RA_ENST00000438560.1_Missense_Mutation_p.W342L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	342					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		AATGACAAACCACTCTCTCAA	0.363													A	3118281	C	A	3118281	3	1	364	1	0	0	0	0	1	0	0	0	7758	595	21	4	249	4	IL5RA	3	3118281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22674	3118281	194904149	2705	26207											
CRBN	51185	broad.mit.edu	37	chr3	3214594	3214594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttccaaactgtgcttcCctttcctgtacattgcttcc	5	17	6	13	0	0	0	0	0	0	0	4	0	4	0	4	0	4	5	4	0	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3214594C>A	ENST00000231948.4	-	4	415	c.393G>T	c.(391-393)agG>agT	p.R131S	CRBN_ENST00000432408.2_Missense_Mutation_p.R130S	NM_016302.3	NP_057386.2	Q96SW2	CRBN_HUMAN	cereblon	131	Lon.				proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul4A-RING ubiquitin ligase complex|cytoplasm|membrane|nucleus	ATP-dependent peptidase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	11				Epithelial(13;0.00244)|OV - Ovarian serous cystadenocarcinoma(96;0.00617)|all cancers(10;0.0079)		ACTGTGCTTCCCTTTCCTGTA	0.338													A	3214594	C	A	3214594	3	1	364	1	0	0	0	0	1	0	0	0	3882	622	22	4	967	4	CRBN	3	3214594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96313	3214594	194807836	2706	26208											
LRRN1	57633	broad.mit.edu	37	chr3	3886579	3886579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagagcaataacatcgCaaagactgtggatgagctgc	14	8	10	9	1	0	3	0	1	0	2	1	4	0	4	0	1	5	3	0	1	4	2	rs150075361		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3886579C>T	ENST00000319331.3	+	2	1015	c.254C>T	c.(253-255)gCa>gTa	p.A85V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	85						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		AATAACATCGCAAAGACTGTG	0.448													T	3886579	C	T	3886579	3	4	364	1	0	0	0	0	1	0	0	0	9104	710	25	2	256	2	LRRN1	3	3886579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	671985	3886579	194135851	2707	26209											
LRRN1	57633	broad.mit.edu	37	chr3	3887498	3887498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaaaaccaacatccgcttCatggagcccctgtccatgtt	12	9	6	14	1	1	0	1	0	0	0	3	1	3	1	5	1	4	2	5	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3887498C>T	ENST00000319331.3	+	2	1934	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	391	LRRCT.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		ACATCCGCTTCATGGAGCCCC	0.502													T	3887498	C	T	3887498	2	4	364	1	0	0	0	0	0	0	0	1	9104	825	29	2		2	LRRN1	3	3887498	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	919	3887498	194134932	2708	26210											
LRRN1	57633	broad.mit.edu	37	chr3	3888446	3888446	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaccaagccaacccaggtCgacacatccagaagctatta	15	5	7	14	1	0	1	0	0	0	1	2	3	1	1	4	1	3	1	4	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888446C>T	ENST00000319331.3	+	2	2882	c.2121C>T	c.(2119-2121)gtC>gtT	p.V707V	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	707						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CAACCCAGGTCGACACATCCA	0.448													T	3888446	C	T	3888446	2	4	364	1	0	0	0	0	0	0	0	1	9104	871	31	1		1	LRRN1	3	3888446	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	948	3888446	194133984	2709	26211											
LRRN1	57633	broad.mit.edu	37	chr3	3888474	3888474	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagaagctattacatgtggTaactcagaggatattttgct	12	13	9	7	0	1	2	1	0	0	2	1	3	1	3	1	2	4	3	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:3888474T>C	ENST00000319331.3	+	2	2910	c.2149T>C	c.(2149-2151)Taa>Caa	p.*717Q	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	0						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		TTACATGTGGTAACTCAGAGG	0.413													C	3888474	T	C	3888474	4	2	364	1	0	0	0	0	0	0	0	0	9104	1651	57	3	2151	3	LRRN1	3	3888474	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28	3888474	194133956	2710	26212											
SETMAR	6419	broad.mit.edu	37	chr3	4355208	4355208	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaagaactctcttatgaTtattcaggaagatatcttaa	16	13	7	5	0	3	4	1	1	2	3	4	6	3	5	0	1	1	0	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355208T>G	ENST00000358065.4	+	2	850	c.783T>G	c.(781-783)gaT>gaG	p.D261E	SETMAR_ENST00000425863.1_Intron|SETMAR_ENST00000430981.1_Missense_Mutation_p.D261E|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	248	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TCTCTTATGATTATTCAGGAA	0.383								Chromatin Structure					G	4355208	T	G	4355208	3	3	364	1	0	0	0	0	1	0	0	0	14233	1490	52	5	789	5	SETMAR	3	4355208	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	466734	4355208	193667222	2711	26213											
SETMAR	6419	broad.mit.edu	37	chr3	4355498	4355498	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccctatagtggaagacagtGgttggctagctttacctctg	8	13	11	9	0	1	1	0	0	1	1	2	2	2	2	2	3	2	3	2	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4355498G>A	ENST00000430981.1	+	2	1083	c.1073G>A	c.(1072-1074)tGg>tAg	p.W358*	SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000358065.4_Intron	NM_001276325.1	NP_001263254.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	0	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGAAGACAGTGGTTGGCTAGC	0.493								Chromatin Structure					A	4355498	G	A	4355498	4	1	364	1	0	0	0	0	0	1	0	0	14233	1363	47	2		2	SETMAR	3	4355498	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	290	4355498	193666932	2712	26214											
ITPR1	3708	broad.mit.edu	37	chr3	4716021	4716021	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagagaagaataagcttacGtttgaggtaactcatgatga	17	10	10	4	1	1	5	1	3	0	2	1	6	1	5	0	1	3	3	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4716021G>A	ENST00000354582.6	+	22	2942	c.2592G>A	c.(2590-2592)acG>acA	p.T864T	ITPR1_ENST00000456211.2_Silent_p.T849T|ITPR1_ENST00000357086.4_Silent_p.T864T|ITPR1_ENST00000443694.2_Silent_p.T849T|ITPR1_ENST00000423119.2_Silent_p.T864T|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000302640.8_Silent_p.T849T			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	864					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		ATAAGCTTACGTTTGAGGTAA	0.383													A	4716021	G	A	4716021	2	1	364	1	0	0	0	0	0	0	0	1	7978	1132	40	1		1	ITPR1	3	4716021	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360523	4716021	193306409	2713	26215											
ITPR1	3708	broad.mit.edu	37	chr3	4859858	4859858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactatctgtgcttcatcGtcctggtgaaagtaaaggac	10	11	11	9	1	2	1	1	1	1	0	4	2	3	2	1	3	1	3	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:4859858G>A	ENST00000354582.6	+	59	8265	c.7915G>A	c.(7915-7917)Gtc>Atc	p.V2639I	ITPR1_ENST00000544951.1_Missense_Mutation_p.V617I|ITPR1_ENST00000463980.1_3'UTR|ITPR1_ENST00000357086.4_Missense_Mutation_p.V2606I|ITPR1_ENST00000423119.2_Missense_Mutation_p.V2606I|AC018816.3_ENST00000449914.1_Intron|AC018816.3_ENST00000489771.1_Intron|AC018816.3_ENST00000441894.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.V2591I|ITPR1_ENST00000302640.8_Missense_Mutation_p.V2639I|ITPR1_ENST00000443694.2_Missense_Mutation_p.V2639I			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2654					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GTGCTTCATCGTCCTGGTGAA	0.468													A	4859858	G	A	4859858	3	1	364	1	0	0	0	0	1	0	0	0	7978	1145	40	1	8190	1	ITPR1	3	4859858	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143837	4859858	193162572	2714	26216											
BHLHE40	8553	broad.mit.edu	37	chr3	5024755	5024755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacttcaaggaaaaacccaGctctccggccaaaggttcgg	12	6	11	12	2	2	0	1	0	1	0	4	2	2	2	3	5	2	2	3	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5024755G>A	ENST00000256495.3	+	5	1220	c.617G>A	c.(616-618)aGc>aAc	p.S206N		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	206						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAAAAACCCAGCTCTCCGGCC	0.607													A	5024755	G	A	5024755	3	1	364	1	0	0	0	0	1	0	0	0	1429	971	34	2	635	2	BHLHE40	3	5024755	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164897	5024755	192997675	2715	26217											
ARL8B	55207	broad.mit.edu	37	chr3	5220422	5220422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atctcctgaagtcttccagtCcttcttggctataatcctag	8	15	6	12	0	3	1	0	1	3	0	7	1	6	1	4	1	0	1	4	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:5220422C>T	ENST00000419534.2	+	5	616	c.446C>T	c.(445-447)tCc>tTc	p.S149F	ARL8B_ENST00000256496.3_3'UTR|AC026202.3_ENST00000439325.1_RNA|ARL8B_ENST00000468010.1_3'UTR			Q9NVJ2	ARL8B_HUMAN	ADP-ribosylation factor-like 8B	0					cell cycle|cell division|chromosome segregation|small GTPase mediated signal transduction	late endosome membrane|lysosomal membrane|midbody|spindle midzone	alpha-tubulin binding|beta-tubulin binding|GDP binding|GTP binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|skin(1)	9				OV - Ovarian serous cystadenocarcinoma(96;0.0717)|Epithelial(13;0.0777)		GTCTTCCAGTCCTTCTTGGCT	0.398													T	5220422	C	T	5220422	3	4	364	1	0	0	0	0	1	0	0	0	952	870	30	2		2	ARL8B	3	5220422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195667	5220422	192802008	2716	26218											
GRM7	2917	broad.mit.edu	37	chr3	7348185	7348185	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccatatttctttccacagGcagatccttgcagcagccaa	10	12	6	13	0	1	1	0	0	1	1	4	1	4	1	4	1	3	3	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:7348185G>A	ENST00000486284.1	+	4	1153	c.879G>A	c.(877-879)aaG>aaA	p.K293K	GRM7_ENST00000389336.4_Splice_Site_p.K293K|GRM7_ENST00000402647.2_Splice_Site_p.K293K|GRM7_ENST00000403881.1_Splice_Site_p.K293K|GRM7_ENST00000357716.4_Splice_Site_p.K293K	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	293					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CTTTCCACAGGCAGATCCTTG	0.438													A	7348185	G	A	7348185	5	1	364	1	0	0	0	0	0	0	1	0	6857	1217	42	2	893	2	GRM7	3	7348185	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2127763	7348185	190674245	2717	26219											
LMCD1	29995	broad.mit.edu	37	chr3	8590439	8590439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcaagcaatataagagCgaggccctcggcgtgggaga	11	8	14	8	3	1	2	1	0	0	2	2	4	1	2	1	3	2	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587													T	8590439	C	T	8590439	2	4	364	1	0	0	0	0	0	0	0	1	8905	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1242254	8590439	189431991	2718	26220											
SRGAP3	9901	broad.mit.edu	37	chr3	9097991	9097991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagcagttctgtctggaCgggctgctgagcgctgacct	6	10	14	11	2	2	3	0	3	2	0	2	4	2	4	1	2	3	5	1	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9097991C>T	ENST00000383836.3	-	8	1478	c.1051G>A	c.(1051-1053)Gtc>Atc	p.V351I	SRGAP3_ENST00000433332.3_5'UTR|SRGAP3_ENST00000360413.3_Missense_Mutation_p.V351I	NM_014850.3	NP_055665.1	O43295	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 3	351					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding		SRGAP3/RAF1(6)	breast(1)|endometrium(2)|kidney(21)|large_intestine(7)|lung(13)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	54				OV - Ovarian serous cystadenocarcinoma(96;0.0563)		TCTGTCTGGACGGGCTGCTGA	0.587			T	RAF1	pilocytic astrocytoma								T	9097991	C	T	9097991	3	4	364	1	0	0	0	0	1	0	0	0	15243	536	19	1	2343	1	SRGAP3	3	9097991	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	507552	9097991	188924439	2719	26221											
SETD5	55209	broad.mit.edu	37	chr3	9487358	9487358	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaagtagacaatccagaAgaaaaaccagaagaagagaa	24	2	10	5	0	0	6	0	0	0	6	1	8	1	7	2	1	1	1	2	1	10	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9487358A>C	ENST00000402466.1	+	14	1932	c.1164A>C	c.(1162-1164)gaA>gaC	p.E388D	SETD5_ENST00000302463.6_Missense_Mutation_p.E388D|SETD5_ENST00000406341.1_Missense_Mutation_p.E486D|SETD5_ENST00000407969.1_Missense_Mutation_p.E505D|SETD5_ENST00000402198.1_Missense_Mutation_p.E486D			Q9C0A6	SETD5_HUMAN	SET domain containing 5	486	SET.									NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		ACAATCCAGAAGAAAAACCAG	0.393													C	9487358	A	C	9487358	3	2	364	1	0	0	0	0	1	0	0	0	14227	69	3	5	1500	5	SETD5	3	9487358	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	389367	9487358	188535072	2720	26222											
SETD5	55209	broad.mit.edu	37	chr3	9488989	9488989	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggaggtcttcccaagcaGgggtaagagttgaaaagact	12	7	13	9	1	1	3	0	1	1	2	2	4	2	4	2	4	1	3	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9488989G>T	ENST00000402466.1	+	15	2254	c.1486G>T	c.(1486-1488)Ggg>Tgg	p.G496W	SETD5_ENST00000302463.6_Missense_Mutation_p.G496W|SETD5_ENST00000406341.1_Missense_Mutation_p.G594W|SETD5_ENST00000407969.1_Missense_Mutation_p.G613W|SETD5_ENST00000402198.1_Missense_Mutation_p.G594W			Q9C0A6	SETD5_HUMAN	SET domain containing 5	594										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		TTCCCAAGCAGGGGTAAGAGT	0.428													T	9488989	G	T	9488989	3	4	364	1	0	0	0	0	1	0	0	0	14227	1000	35	4	1826	4	SETD5	3	9488989	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1631	9488989	188533441	2721	26223											
MTMR14	64419	broad.mit.edu	37	chr3	9704045	9704045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttgtctgcccagtaatcCtgttcaagggcaaggtaagg	9	11	13	8	0	2	0	1	0	1	0	3	0	3	0	2	4	1	5	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9704045C>A	ENST00000296003.4	+	3	525	c.403C>A	c.(403-405)Ctg>Atg	p.L135M	MTMR14_ENST00000351233.5_Missense_Mutation_p.L135M|MTMR14_ENST00000353332.5_Missense_Mutation_p.L135M|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	135						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					CCCAGTAATCCTGTTCAAGGG	0.512													A	9704045	C	A	9704045	3	1	364	1	0	0	0	0	1	0	0	0	10018	680	24	4	413	4	MTMR14	3	9704045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215056	9704045	188318385	2722	26224											
MTMR14	64419	broad.mit.edu	37	chr3	9714422	9714422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctatgccgacttcactcTcctctccatcccgtatccag	6	11	6	18	3	3	0	1	0	2	0	7	1	5	0	5	0	1	2	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714422T>C	ENST00000296003.4	+	7	853	c.731T>C	c.(730-732)cTc>cCc	p.L244P	MTMR14_ENST00000351233.5_Missense_Mutation_p.L244P|MTMR14_ENST00000353332.5_Missense_Mutation_p.L244P|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	244						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					GACTTCACTCTCCTCTCCATC	0.532													C	9714422	T	C	9714422	3	2	364	1	0	0	0	0	1	0	0	0	10018	1551	54	3	757	3	MTMR14	3	9714422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10377	9714422	188308008	2723	26225											
MTMR14	64419	broad.mit.edu	37	chr3	9714435	9714435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcactctcctctccatcccGtatccaggtagggggctctc	5	12	8	16	1	4	0	1	0	3	0	9	0	6	0	4	3	0	3	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9714435G>A	ENST00000296003.4	+	7	866	c.744G>A	c.(742-744)ccG>ccA	p.P248P	MTMR14_ENST00000351233.5_Silent_p.P248P|MTMR14_ENST00000353332.5_Silent_p.P248P|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	248						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					TCTCCATCCCGTATCCAGGTA	0.552													A	9714435	G	A	9714435	2	1	364	1	0	0	0	0	0	0	0	1	10018	1132	40	1		1	MTMR14	3	9714435	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	9714435	188307995	2724	26226											
MTMR14	64419	broad.mit.edu	37	chr3	9719032	9719032	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaaggaatataaagatcgGgattacatggcagaagggct	15	9	12	5	1	1	2	1	0	0	2	2	4	1	4	0	4	1	2	0	4	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9719032G>T	ENST00000296003.4	+	8	905	c.783G>T	c.(781-783)cgG>cgT	p.R261R	MTMR14_ENST00000351233.5_Silent_p.R261R|MTMR14_ENST00000353332.5_Silent_p.R261R|MTMR14_ENST00000420925.1_Intron	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	261						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ATAAAGATCGGGATTACATGG	0.443													T	9719032	G	T	9719032	2	4	364	1	0	0	0	0	0	0	0	1	10018	1219	43	4		4	MTMR14	3	9719032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4597	9719032	188303398	2725	26227											
BRPF1	7862	broad.mit.edu	37	chr3	9775966	9775966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtaccactatgaccacGacaacccaccacccccacaa	14	4	3	20	1	0	1	0	1	0	0	0	2	0	1	7	0	2	1	7	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9775966G>A	ENST00000383829.2	+	2	546	c.142G>A	c.(142-144)Gac>Aac	p.D48N	BRPF1_ENST00000302054.3_Missense_Mutation_p.D48N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D48N|BRPF1_ENST00000433861.2_Missense_Mutation_p.D48N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D48N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	48					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CTATGACCACGACAACCCACC	0.577													A	9775966	G	A	9775966	3	1	364	1	0	0	0	0	1	0	0	0	1529	1058	37	1	144	1	BRPF1	3	9775966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56934	9775966	188246464	2726	26228											
BRPF1	7862	broad.mit.edu	37	chr3	9776067	9776067	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagcccctcagaggtCtcacagtcaccaggccgtga	9	6	9	17	1	4	2	4	1	1	1	5	2	4	2	5	2	1	0	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776067C>A	ENST00000383829.2	+	2	647	c.243C>A	c.(241-243)gtC>gtA	p.V81V	BRPF1_ENST00000302054.3_Silent_p.V81V|BRPF1_ENST00000424362.1_Silent_p.V81V|BRPF1_ENST00000433861.2_Silent_p.V81V|BRPF1_ENST00000457855.1_Silent_p.V81V	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	81	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CCTCAGAGGTCTCACAGTCAC	0.602													A	9776067	C	A	9776067	2	1	364	1	0	0	0	0	0	0	0	1	1529	900	32	4		4	BRPF1	3	9776067	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101	9776067	188246363	2727	26229											
BRPF1	7862	broad.mit.edu	37	chr3	9776248	9776248	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaggagaacactgagacaCcagctgctactcccaagtca	15	5	8	13	0	1	2	1	1	0	2	2	4	2	2	2	1	4	2	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9776248C>A	ENST00000383829.2	+	2	828	c.424C>A	c.(424-426)Cca>Aca	p.P142T	BRPF1_ENST00000302054.3_Missense_Mutation_p.P142T|BRPF1_ENST00000424362.1_Missense_Mutation_p.P142T|BRPF1_ENST00000433861.2_Missense_Mutation_p.P142T|BRPF1_ENST00000457855.1_Missense_Mutation_p.P142T	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	142	Interaction with MYST3 and MYST4.				histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					CACTGAGACACCAGCTGCTAC	0.542													A	9776248	C	A	9776248	3	1	364	1	0	0	0	0	1	0	0	0	1529	507	18	4	426	4	BRPF1	3	9776248	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181	9776248	188246182	2728	26230											
BRPF1	7862	broad.mit.edu	37	chr3	9785586	9785586	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccaggagacaagcaaagGtctgaatcccatggcaaggt	14	5	12	10	0	1	2	0	1	1	1	2	3	2	2	2	4	2	2	2	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9785586G>A	ENST00000383829.2	+	8	3039		c.e8+1		BRPF1_ENST00000302054.3_Splice_Site|BRPF1_ENST00000424362.1_Splice_Site|BRPF1_ENST00000433861.2_Splice_Site|BRPF1_ENST00000457855.1_Splice_Site	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1						histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					ACAAGCAAAGGTCTGAATCCC	0.597													A	9785586	G	A	9785586	5	1	364	1	0	0	0	0	0	0	1	0	1529	1275	44	2	2662	2	BRPF1	3	9785586	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9338	9785586	188236844	2729	26231											
BRPF1	7862	broad.mit.edu	37	chr3	9789022	9789022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagagcagtgagaccagcGatagtgattgatactgctca	13	8	12	8	1	1	4	1	3	0	2	1	6	1	4	1	0	5	3	1	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9789022G>A	ENST00000383829.2	+	14	4056	c.3652G>A	c.(3652-3654)Gat>Aat	p.D1218N	BRPF1_ENST00000302054.3_Missense_Mutation_p.D1212N|BRPF1_ENST00000424362.1_Missense_Mutation_p.D1211N|BRPF1_ENST00000433861.2_Missense_Mutation_p.D1117N|BRPF1_ENST00000457855.1_Missense_Mutation_p.D1212N	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	1212					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					TGAGACCAGCGATAGTGATTG	0.582													A	9789022	G	A	9789022	3	1	364	1	0	0	0	0	1	0	0	0	1529	1058	37	1	3702	1	BRPF1	3	9789022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3436	9789022	188233408	2730	26232											
TTLL3	26140	broad.mit.edu	37	chr3	9870917	9870917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcggggaggacttccaGccctggctgattgagatcaa	8	10	14	9	1	1	2	1	2	0	1	3	5	2	4	2	4	1	2	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9870917G>A	ENST00000383827.1	+	4	3037	c.756G>A	c.(754-756)caG>caA	p.Q252Q	TTLL3_ENST00000427853.3_Silent_p.Q252Q|TTLL3_ENST00000455274.1_Silent_p.Q252Q|TTLL3_ENST00000466245.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_Silent_p.Q525Q|TTLL3_ENST00000430793.1_Silent_p.Q252Q|TTLL3_ENST00000547186.1_Silent_p.Q464Q|TTLL3_ENST00000426895.4_Silent_p.Q607Q|TTLL3_ENST00000397241.1_Silent_p.Q252Q			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	464	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AGGACTTCCAGCCCTGGCTGA	0.627													A	9870917	G	A	9870917	2	1	364	1	0	0	0	0	0	0	0	1	16830	962	34	2		2	TTLL3	3	9870917	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81895	9870917	188151513	2731	26233											
TTLL3	26140	broad.mit.edu	37	chr3	9876506	9876506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccacaggcaaggccttgaGgactctacccacggctaagg	11	5	12	13	1	1	1	0	1	1	0	1	3	1	2	3	5	1	2	3	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9876506G>T	ENST00000547186.1	+	12	2054	c.1838G>T	c.(1837-1839)aGg>aTg	p.R613M	TTLL3_ENST00000455274.1_Intron|TTLL3_ENST00000383827.1_3'UTR|ARPC4-TTLL3_ENST00000397256.1_3'UTR|TTLL3_ENST00000430793.1_Missense_Mutation_p.R401M|TTLL3_ENST00000426895.4_Missense_Mutation_p.R756M|TTLL3_ENST00000397241.1_3'UTR	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	613					axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					AAGGCCTTGAGGACTCTACCC	0.592													T	9876506	G	T	9876506	3	4	364	1	0	0	0	0	1	0	0	0	16830	1000	35	4	1880	4	TTLL3	3	9876506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5589	9876506	188145924	2732	26234											
CIDEC	63924	broad.mit.edu	37	chr3	9911604	9911604	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcagtgcagatcataGgaaagggagtatgtatcata	15	8	11	7	0	2	1	2	0	0	1	2	3	2	3	1	2	2	4	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9911604G>T	ENST00000336832.2	-	5	655	c.516C>A	c.(514-516)tcC>tcA	p.S172S	CIDEC_ENST00000455015.1_Silent_p.S98S|CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000423850.1_Silent_p.S98S|CIDEC_ENST00000430427.1_Silent_p.S182S|CIDEC_ENST00000383817.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	172					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					GCAGATCATAGGAAAGGGAGT	0.512													T	9911604	G	T	9911604	2	4	364	1	0	0	0	0	0	0	0	1	3457	987	35	4		4	CIDEC	3	9911604	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35098	9911604	188110826	2733	26235											
IL17RC	84818	broad.mit.edu	37	chr3	9960204	9960204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctccaggcccaagtcGtgctctccttccaggcctac	5	10	7	19	1	2	0	0	0	2	0	7	0	4	0	6	2	2	1	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9960204G>A	ENST00000295981.3	+	5	807	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	IL17RC_ENST00000455057.1_Missense_Mutation_p.V126M|IL17RC_ENST00000403601.3_Missense_Mutation_p.V126M|IL17RC_ENST00000383812.4_Missense_Mutation_p.V126M|IL17RC_ENST00000416074.2_Intron|IL17RC_ENST00000413608.1_Missense_Mutation_p.V126M|IL17RC_ENST00000498214.1_3'UTR	NM_153461.3	NP_703191	Q8NAC3	I17RC_HUMAN	interleukin 17 receptor C	197						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						GGCCCAAGTCGTGCTCTCCTT	0.642													A	9960204	G	A	9960204	3	1	364	1	0	0	0	0	1	0	0	0	7699	1145	40	1	607	1	IL17RC	3	9960204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48600	9960204	188062226	2734	26236											
CRELD1	78987	broad.mit.edu	37	chr3	9982636	9982636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactgccaagccggctacgGgggtgaggcctgtggccagt	6	7	17	11	2	0	2	0	2	0	0	0	2	0	2	4	5	3	1	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:9982636G>T	ENST00000383811.3	+	5	1162	c.563G>T	c.(562-564)gGg>gTg	p.G188V	CRELD1_ENST00000397170.3_Missense_Mutation_p.G188V|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188V|CRELD1_ENST00000452070.1_Missense_Mutation_p.G188V	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	188	EGF-like 1.				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						GCCGGCTACGGGGGTGAGGCC	0.632													T	9982636	G	T	9982636	3	4	364	1	0	0	0	0	1	0	0	0	3897	1232	43	4	581	4	CRELD1	3	9982636	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22432	9982636	188039794	2735	26237											
FANCD2	2177	broad.mit.edu	37	chr3	10105596	10105596	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctggatccaaaagccctgGtaaagccaattgtcttttct	11	12	8	10	0	2	0	0	0	2	0	3	1	3	1	3	2	3	2	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10105596G>T	ENST00000287647.3	+	21	2040		c.e21+1		FANCD2_ENST00000383806.1_Splice_Site|FANCD2_ENST00000419585.1_Splice_Site|FANCD2_ENST00000383807.1_Splice_Site	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2						DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAAGCCCTGGTAAAGCCAAT	0.423			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	10105596	G	T	10105596	5	4	364	1	0	0	0	0	0	0	1	0	5714	1275	44	4	2026	4	FANCD2	3	10105596	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122960	10105596	187916834	2736	26238											
FANCD2	2177	broad.mit.edu	37	chr3	10122797	10122797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatagaacaaaggaagccGgaatattggattctcacatc	16	10	8	7	1	1	1	1	0	1	1	3	4	1	4	1	3	2	0	1	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10122797G>A	ENST00000287647.3	+	31	3083	c.2990G>A	c.(2989-2991)cGg>cAg	p.R997Q	FANCD2_ENST00000383806.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000419585.1_Missense_Mutation_p.R997Q|FANCD2_ENST00000383807.1_Missense_Mutation_p.R997Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	997					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		AAAGGAAGCCGGAATATTGGA	0.418			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10122797	G	A	10122797	3	1	364	1	0	0	0	0	1	0	0	0	5714	1116	39	1	3108	1	FANCD2	3	10122797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17201	10122797	187899633	2737	26239											
IRAK2	3656	broad.mit.edu	37	chr3	10283837	10283838	+	Frame_Shift_Ins	INS	-	-	A																															aaattgagatcaatgaggccINSaaaaggaaactgatggagaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10283837_10283838insA	ENST00000256458.4	+	13	1893_1894	c.1803_1804insA	c.(1804-1806)aaafs	p.K602fs		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	602					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TCAATGAGGCCAAAAGGAAACT	0.406													A	10283838	-	A	10283837	7	5	364	1	0	1	1	0	0	0	0	0	7881	581	21	0	1853	0	IRAK2	3	10283837	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	161040	10283837	187738593	2738	26240											
TATDN2	9797	broad.mit.edu	37	chr3	10302299	10302299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggactgtcattgacaaatGctctccacccctagagttct	11	11	7	12	0	3	2	1	1	2	1	4	3	3	3	3	1	1	2	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10302299G>A	ENST00000287652.4	+	3	1944	c.893G>A	c.(892-894)tGc>tAc	p.C298Y	RP11-438J1.1_ENST00000450534.1_3'UTR|TATDN2_ENST00000448281.2_Missense_Mutation_p.C298Y	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	298						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						ATTGACAAATGCTCTCCACCC	0.468													A	10302299	G	A	10302299	3	1	364	1	0	0	0	0	1	0	0	0	15689	1319	46	2	899	2	TATDN2	3	10302299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18462	10302299	187720131	2739	26241											
SEC13	6396	broad.mit.edu	37	chr3	10353769	10353769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtagtcatggggggcccaGcacaccgagttcactgcggg	7	6	15	13	3	2	0	2	0	0	0	2	1	2	0	3	4	2	3	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10353769G>A	ENST00000397117.1	-	5	879	c.288C>T	c.(286-288)tgC>tgT	p.C96C	SEC13_ENST00000383801.2_Silent_p.C156C|SEC13_ENST00000350697.3_Silent_p.C110C|SEC13_ENST00000337354.4_Silent_p.C113C|SEC13_ENST00000397109.3_Silent_p.C96C			P55735	SEC13_HUMAN	SEC13 homolog (S. cerevisiae)	110					COPII vesicle coating|intracellular protein transport|mitotic prometaphase|mRNA transport|post-translational protein modification|protein N-linked glycosylation via asparagine|transmembrane transport	cytosol|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Nup107-160 complex	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17						GGGGGGCCCAGCACACCGAGT	0.592													A	10353769	G	A	10353769	2	1	364	1	0	0	0	0	0	0	0	1	14073	963	34	2		2	SEC13	3	10353769	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51470	10353769	187668661	2740	26242											
ATP2B2	491	broad.mit.edu	37	chr3	10420081	10420081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccatggcggctgccccGtcctgttgtttggctgcagg	3	12	13	13	2	1	0	0	0	1	0	3	0	2	0	4	4	2	5	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10420081G>A	ENST00000397077.1	-	9	1496	c.921C>T	c.(919-921)gaC>gaT	p.D307D	ATP2B2_ENST00000360273.2_Silent_p.D352D|ATP2B2_ENST00000383800.4_Silent_p.D307D|ATP2B2_ENST00000352432.4_Silent_p.D352D|ATP2B2_ENST00000343816.4_Silent_p.D338D			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	352					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding	p.D307D(1)|p.D352D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGGCTGCCCCGTCCTGTTGTT	0.622													A	10420081	G	A	10420081	2	1	364	1	0	0	0	0	0	0	0	1	1145	1136	40	1		1	ATP2B2	3	10420081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66312	10420081	187602349	2741	26243											
ATP2B2	491	broad.mit.edu	37	chr3	10452379	10452379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctccaggatgatgagcGtcacgtcctgcagcgcctcc	8	8	10	15	3	2	2	1	2	1	0	5	3	4	3	4	1	3	1	4	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:10452379G>A	ENST00000397077.1	-	5	895	c.320C>T	c.(319-321)aCg>aTg	p.T107M	ATP2B2_ENST00000360273.2_Missense_Mutation_p.T107M|ATP2B2_ENST00000383800.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000352432.4_Missense_Mutation_p.T107M|ATP2B2_ENST00000343816.4_Missense_Mutation_p.T107M			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	107					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GATGATGAGCGTCACGTCCTG	0.557													A	10452379	G	A	10452379	3	1	364	1	0	0	0	0	1	0	0	0	1145	1145	40	1	3495	1	ATP2B2	3	10452379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32298	10452379	187570051	2742	26244											
ATG7	10533	broad.mit.edu	37	chr3	11340313	11340313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcccaaggacattaaGggttattactacaatggtag	14	10	10	7	0	0	0	0	0	0	0	1	2	1	1	1	3	3	3	1	3	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11340313G>T	ENST00000354449.3	+	2	169	c.144G>T	c.(142-144)aaG>aaT	p.K48N	ATG7_ENST00000446450.2_Missense_Mutation_p.K48N|ATG7_ENST00000354956.5_Missense_Mutation_p.K48N|ATG7_ENST00000469654.2_3'UTR	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	48					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						AGGACATTAAGGGTTATTACT	0.428													T	11340313	G	T	11340313	3	4	364	1	0	0	0	0	1	0	0	0	1106	991	35	4	146	4	ATG7	3	11340313	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	887934	11340313	186682117	2743	26245											
ATG7	10533	broad.mit.edu	37	chr3	11468278	11468278	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaatgtaaatgttttacagGttcttgatcaatatgaacga	16	14	7	4	1	2	2	1	2	1	0	2	3	2	2	0	1	2	3	0	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468278G>A	ENST00000354449.3	+	18	1982	c.1957G>A	c.(1957-1959)Gtt>Att	p.V653I	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Splice_Site_p.V626I	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	653					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TGTTTTACAGGTTCTTGATCA	0.313													A	11468278	G	A	11468278	5	1	364	1	0	0	0	0	0	0	1	0	1106	1275	44	2	2023	2	ATG7	3	11468278	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127965	11468278	186554152	2744	26246											
ATG7	10533	broad.mit.edu	37	chr3	11468322	11468322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatttaacttcctagccaaGgtgtttaattcttcacattc	10	16	6	9	0	2	0	1	0	1	0	4	1	3	1	2	2	2	1	2	2	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11468322G>T	ENST00000354449.3	+	18	2026	c.2001G>T	c.(1999-2001)aaG>aaT	p.K667N	ATG7_ENST00000446450.2_Intron|ATG7_ENST00000354956.5_Missense_Mutation_p.K640N	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7	667					autophagy|cellular membrane fusion|positive regulation of protein modification process|protein lipidation|protein transport	cytoplasm	APG12 activating enzyme activity|protein homodimerization activity|ubiquitin activating enzyme activity	p.K667N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						TCCTAGCCAAGGTGTTTAATT	0.348													T	11468322	G	T	11468322	3	4	364	1	0	0	0	0	1	0	0	0	1106	991	35	4	2067	4	ATG7	3	11468322	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	11468322	186554108	2745	26247											
VGLL4	9686	broad.mit.edu	37	chr3	11643484	11643484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattctgggttctcccctgAgagcagcttcgcctacgcag	6	11	11	13	2	2	1	0	1	2	1	4	2	2	1	3	1	3	5	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:11643484A>G	ENST00000273038.3	-	3	442	c.77T>C	c.(76-78)cTc>cCc	p.L26P	VGLL4_ENST00000480288.1_5'UTR|VGLL4_ENST00000430365.2_Missense_Mutation_p.L32P|VGLL4_ENST00000413604.1_5'UTR|VGLL4_ENST00000404339.1_Missense_Mutation_p.L31P	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	26					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		TTCTCCCCTGAGAGCAGCTTC	0.642													G	11643484	A	G	11643484	3	3	364	1	0	0	0	0	1	0	0	0	17263	304	11	3	835	3	VGLL4	3	11643484	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	175162	11643484	186378946	2746	26248											
TIMP4	7079	broad.mit.edu	37	chr3	12195185	12195185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgttaggggccgagatggTacagggtactgtgtagcagg	8	9	17	7	2	0	1	0	0	0	1	1	2	0	1	1	5	3	5	1	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12195185T>C	ENST00000287814.4	-	5	1015	c.505A>G	c.(505-507)Acc>Gcc	p.T169A	SYN2_ENST00000432424.2_RNA	NM_003256.3	NP_003247.1	Q99727	TIMP4_HUMAN	TIMP metallopeptidase inhibitor 4	169							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	11						GCCGAGATGGTACAGGGTACT	0.483													C	12195185	T	C	12195185	3	2	364	1	0	0	0	0	1	0	0	0	16020	1638	57	3	173	3	TIMP4	3	12195185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	551701	12195185	185827245	2747	26249											
TSEN2	80746	broad.mit.edu	37	chr3	12545146	12545146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgctctcatcctccagCgtggccttcatcatgaagac	10	10	8	13	1	3	3	3	1	1	2	6	3	5	3	3	1	2	1	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12545146C>T	ENST00000444864.1	+	5	1081	c.694C>T	c.(694-696)Cgt>Tgt	p.R232C	TSEN2_ENST00000454502.2_Splice_Site_p.R173C|TSEN2_ENST00000415684.1_Missense_Mutation_p.R232C|TSEN2_ENST00000402228.3_Missense_Mutation_p.R232C|TSEN2_ENST00000383797.5_Missense_Mutation_p.R232C|TSEN2_ENST00000314571.7_Missense_Mutation_p.R232C|TSEN2_ENST00000284995.6_Missense_Mutation_p.R232C	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit	232					mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						CATCCTCCAGCGTGGCCTTCA	0.582													T	12545146	C	T	12545146	3	4	364	1	0	0	0	0	1	0	0	0	16713	782	27	1	708	1	TSEN2	3	12545146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	349961	12545146	185477284	2748	26250											
MKRN2	23609	broad.mit.edu	37	chr3	12613679	12613679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgcattcctacctggatgCcatcaggagtggccttgatg	7	10	12	12	1	1	1	1	1	0	0	2	3	2	3	5	3	2	1	5	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12613679C>A	ENST00000170447.7	+	4	586	c.449C>A	c.(448-450)gCc>gAc	p.A150D	MKRN2_ENST00000411987.1_Missense_Mutation_p.A107D|MKRN2_ENST00000448482.1_Missense_Mutation_p.A148D	NM_001271707.1|NM_014160.3	NP_001258636.1|NP_054879.3	Q9H000	MKRN2_HUMAN	makorin ring finger protein 2	150						intracellular	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(3)	16						TACCTGGATGCCATCAGGAGT	0.622													A	12613679	C	A	12613679	3	1	364	1	0	0	0	0	1	0	0	0	9682	739	26	4	463	4	MKRN2	3	12613679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68533	12613679	185408751	2749	26251											
CAND2	23066	broad.mit.edu	37	chr3	12858323	12858323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacccggctgcccgccaTcaaggcgcttacgctggtgg	6	7	13	15	4	2	0	2	0	0	0	2	1	2	0	3	4	2	3	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858323T>C	ENST00000456430.2	+	10	1933	c.1892T>C	c.(1891-1893)aTc>aCc	p.I631T	CAND2_ENST00000295989.5_Missense_Mutation_p.I538T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	631					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CTGCCCGCCATCAAGGCGCTT	0.627													C	12858323	T	C	12858323	3	2	364	1	0	0	0	0	1	0	0	0	2642	1435	50	3	1930	3	CAND2	3	12858323	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	244644	12858323	185164107	2750	26252											
CAND2	23066	broad.mit.edu	37	chr3	12858532	12858532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgctggctgagctgcctGccctggtcaacgagagcgac	6	7	14	14	3	1	2	1	1	0	1	1	4	1	2	3	2	6	3	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12858532G>A	ENST00000456430.2	+	10	2142	c.2101G>A	c.(2101-2103)Gcc>Acc	p.A701T	CAND2_ENST00000295989.5_Missense_Mutation_p.A608T	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	701					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						TGAGCTGCCTGCCCTGGTCAA	0.672													A	12858532	G	A	12858532	3	1	364	1	0	0	0	0	1	0	0	0	2642	1319	46	2	2139	2	CAND2	3	12858532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209	12858532	185163898	2751	26253											
RPL32	6161	broad.mit.edu	37	chr3	12881651	12881651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacataccttaattttgAcatatcggtctgactggtgc	10	13	8	10	1	1	2	0	2	1	0	2	3	1	2	2	2	2	0	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12881651A>G	ENST00000429711.2	-	2	185	c.86T>C	c.(85-87)gTc>gCc	p.V29A	RPL32_ENST00000396957.1_Missense_Mutation_p.V29A|RPL32_ENST00000396953.2_Missense_Mutation_p.V29A|RPL32_ENST00000273223.6_Missense_Mutation_p.V29A|RPL32_ENST00000435983.1_Missense_Mutation_p.V29A	NM_000994.3	NP_000985.1	P62910	RL32_HUMAN	ribosomal protein L32	29					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTTAATTTTGACATATCGGTC	0.478													G	12881651	A	G	12881651	3	3	364	1	0	0	0	0	1	0	0	0	13673	275	10	3	333	3	RPL32	3	12881651	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23119	12881651	185140779	2752	26254											
IQSEC1	9922	broad.mit.edu	37	chr3	12954952	12954952	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtcgttgaacaggaaGatttctcgctggtgtagtcc	9	11	14	7	2	1	2	0	1	1	1	4	4	2	4	1	4	1	3	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:12954952G>T	ENST00000273221.4	-	9	2550	c.2334C>A	c.(2332-2334)atC>atA	p.I778I		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	778	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TGAACAGGAAGATTTCTCGCT	0.577													T	12954952	G	T	12954952	2	4	364	1	0	0	0	0	0	0	0	1	7875	932	33	4		4	IQSEC1	3	12954952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73301	12954952	185067478	2753	26255											
NUP210	23225	broad.mit.edu	37	chr3	13373855	13373855	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgttctgcttctatttcAgggttgagcagctgcagctt	6	17	10	8	0	3	1	1	1	2	0	3	1	3	1	0	1	5	7	0	1	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13373855A>G	ENST00000254508.5	-	29	3955	c.3873T>C	c.(3871-3873)ccT>ccC	p.P1291P		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1291					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTTCTATTTCAGGGTTGAGCA	0.473													G	13373855	A	G	13373855	2	3	364	1	0	0	0	0	0	0	0	1	10836	175	7	3		3	NUP210	3	13373855	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	418903	13373855	184648575	2754	26256											
NUP210	23225	broad.mit.edu	37	chr3	13378358	13378358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaaggtcaggcctggcaCggcattgccaaaggagaaag	12	5	16	8	1	1	1	1	0	0	1	1	3	1	2	2	6	1	2	2	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13378358C>T	ENST00000254508.5	-	27	3695	c.3613G>A	c.(3613-3615)Gtg>Atg	p.V1205M	NUP210_ENST00000485755.1_5'UTR	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1205					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					AGGCCTGGCACGGCATTGCCA	0.617													T	13378358	C	T	13378358	3	4	364	1	0	0	0	0	1	0	0	0	10836	536	19	1	2106	1	NUP210	3	13378358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4503	13378358	184644072	2755	26257											
NUP210	23225	broad.mit.edu	37	chr3	13381787	13381787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgggcatcagcctgaaCgggggaaagacctgttgaga	10	8	14	9	1	1	3	1	2	0	2	2	5	2	4	3	3	2	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13381787C>T	ENST00000254508.5	-	24	3322	c.3240G>A	c.(3238-3240)ccG>ccA	p.P1080P	NUP210_ENST00000485755.1_Intron	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1080					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					TCAGCCTGAACGGGGGAAAGA	0.577													T	13381787	C	T	13381787	2	4	364	1	0	0	0	0	0	0	0	1	10836	523	19	1		1	NUP210	3	13381787	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3429	13381787	184640643	2756	26258											
NUP210	23225	broad.mit.edu	37	chr3	13407522	13407522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtagctcacaagaagcGtggtagagccctgggcctcg	8	8	14	11	2	2	2	1	0	1	2	3	2	2	2	2	2	3	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13407522G>A	ENST00000254508.5	-	14	1938	c.1856C>T	c.(1855-1857)aCg>aTg	p.T619M		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	619					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CACAAGAAGCGTGGTAGAGCC	0.617													A	13407522	G	A	13407522	3	1	364	1	0	0	0	0	1	0	0	0	10836	1145	40	1	3915	1	NUP210	3	13407522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25735	13407522	184614908	2757	26259											
FBLN2	2199	broad.mit.edu	37	chr3	13679300	13679300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgtggtctacctgcagCgggccgtgctggagccccgg	3	7	18	13	4	1	0	0	0	1	0	1	1	1	1	4	5	5	2	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:13679300C>T	ENST00000404922.3	+	18	3696	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	FBLN2_ENST00000295760.7_Missense_Mutation_p.R1146W|FBLN2_ENST00000535798.1_Missense_Mutation_p.R1172W|FBLN2_ENST00000492059.1_Missense_Mutation_p.R1193W	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1146						proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			CTACCTGCAGCGGGCCGTGCT	0.617													T	13679300	C	T	13679300	3	4	364	1	0	0	0	0	1	0	0	0	5748	759	27	1	2333	1	FBLN2	3	13679300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271778	13679300	184343130	2758	26260											
TMEM43	79188	broad.mit.edu	37	chr3	14183116	14183116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtttcctgttttccgaGacctggtcaacattggcctg	6	14	10	11	1	1	1	1	0	0	1	3	2	3	1	4	3	1	2	4	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14183116G>T	ENST00000306077.4	+	12	1278	c.1024G>T	c.(1024-1026)Gac>Tac	p.D342Y	RP11-434D12.1_ENST00000601399.1_Intron|RP11-434D12.1_ENST00000608606.1_Intron	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	342						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						TGTTTTCCGAGACCTGGTCAA	0.577													T	14183116	G	T	14183116	3	4	364	1	0	0	0	0	1	0	0	0	16267	942	33	4	1070	4	TMEM43	3	14183116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503816	14183116	183839314	2759	26261											
XPC	7508	broad.mit.edu	37	chr3	14200186	14200186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggccctcatcttcctcGctggaggagggcttgctccg	3	10	13	15	2	2	0	1	0	1	0	5	2	4	2	4	4	1	3	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14200186G>A	ENST00000285021.7	-	9	1411	c.1197C>T	c.(1195-1197)agC>agT	p.S399S	XPC_ENST00000449060.2_Silent_p.S362S	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	399					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCTTCCTCGCTGGAGGAGG	0.597			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14200186	G	A	14200186	2	1	364	1	0	0	0	0	0	0	0	1	17543	1078	38	1		1	XPC	3	14200186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17070	14200186	183822244	2760	26262											
XPC	7508	broad.mit.edu	37	chr3	14208719	14208719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaacgtttcatcgccctccGaagatatgtctcaaactcca	12	10	6	13	3	2	1	2	0	1	1	6	3	4	1	3	0	2	1	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14208719G>A	ENST00000285021.7	-	5	785	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	XPC_ENST00000449060.2_Missense_Mutation_p.R154W	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	191					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATCGCCCTCCGAAGATATGTC	0.468			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14208719	G	A	14208719	3	1	364	1	0	0	0	0	1	0	0	0	17543	1057	37	1	1248	1	XPC	3	14208719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8533	14208719	183813711	2761	26263											
LSM3	27258	broad.mit.edu	37	chr3	14239546	14239546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctagtcaacgaaacGgaatattccaatgctctttg	11	14	6	10	2	4	0	1	0	3	0	6	2	5	1	1	1	3	1	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14239546G>A	ENST00000306024.3	+	4	742	c.239G>A	c.(238-240)cGg>cAg	p.R80Q		NM_014463.2	NP_055278.1	P62310	LSM3_HUMAN	LSM3 homolog, U6 small nuclear RNA associated (S. cerevisiae)	80					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	catalytic step 2 spliceosome|cytosol	protein binding|RNA binding			central_nervous_system(1)|large_intestine(2)|ovary(1)	4						TCAACGAAACGGAATATTCCA	0.393													A	14239546	G	A	14239546	3	1	364	1	0	0	0	0	1	0	0	0	9127	1116	39	1	253	1	LSM3	3	14239546	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30827	14239546	183782884	2762	26264											
SLC6A6	6533	broad.mit.edu	37	chr3	14508123	14508123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggcatcaagttctatCtgtatcctgacatcacccgc	9	10	8	14	2	4	1	2	1	2	0	5	1	5	1	2	1	0	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14508123C>A	ENST00000454876.2	+	7	1161	c.832C>A	c.(832-834)Ctg>Atg	p.L278M	SLC6A6_ENST00000360861.3_Missense_Mutation_p.L278M			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	278					cellular amino acid metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity|taurine:sodium symporter activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						CAAGTTCTATCTGTATCCTGA	0.637													A	14508123	C	A	14508123	3	1	364	1	0	0	0	0	1	0	0	0	14782	912	32	4	854	4	SLC6A6	3	14508123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268577	14508123	183514307	2763	26265											
GRIP2	80852	broad.mit.edu	37	chr3	14555201	14555201	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgaactccacctccagcacGaccttgtgggccagtgcggc	7	7	11	16	3	0	0	0	0	0	0	3	2	2	0	5	2	3	1	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14555201G>A	ENST00000273083.3	-	0	1675							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CCTCCAGCACGACCTTGTGGG	0.622													A	14555201	G	A	14555201	1	1	364	0	1	0	0	0	0	0	0	0	6843	1045	37	1		1	GRIP2	3	14555201	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47078	14555201	183467229	2764	26266											
GRIP2	80852	broad.mit.edu	37	chr3	14562059	14562059	+	RNA	DEL	A	A	-																															ccgtgtctggcatgacggagAaaaaaagtttgaaatgcaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14562059delA	ENST00000273083.3	-	0	778							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CATGACGGAGAAAAAAAGTTT	0.512													-	14562059	A	-	14562059	6	5	364	0	1	1	0	1	0	0	0	0	6843	261	9	0		0	GRIP2	3	14562059	RNA	DEL	A	TCGA-DU-6392-01A-11D-1705-08	6858	14562059	183460371	2765	26267											
FGD5	152273	broad.mit.edu	37	chr3	14862981	14862981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccagggctggcgcgttcacGaagctgtttgaagatcagag	9	8	15	9	3	2	3	2	1	0	2	2	4	2	3	1	2	1	4	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:14862981G>A	ENST00000285046.5	+	1	2513	c.2403G>A	c.(2401-2403)acG>acA	p.T801T	FGD5_ENST00000543601.1_Silent_p.T560T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	801					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GCGCGTTCACGAAGCTGTTTG	0.522													A	14862981	G	A	14862981	2	1	364	1	0	0	0	0	0	0	0	1	5885	1045	37	1		1	FGD5	3	14862981	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300922	14862981	183159449	2766	26268											
NR2C2	7182	broad.mit.edu	37	chr3	15073889	15073889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctcctcttttccagctaAcaatgcccagtccaatgcca	9	11	5	16	0	1	0	0	0	1	0	4	0	4	0	6	0	5	1	6	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15073889A>G	ENST00000425241.1	+	10	1476	c.1114A>G	c.(1114-1116)Aca>Gca	p.T372A	NR2C2_ENST00000406272.2_Missense_Mutation_p.T372A|NR2C2_ENST00000478572.1_3'UTR|NR2C2_ENST00000393102.3_Missense_Mutation_p.T372A|NR2C2_ENST00000323373.6_Missense_Mutation_p.T391A			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	372					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCCAGCTAACAATGCCCAG	0.522													G	15073889	A	G	15073889	3	3	364	1	0	0	0	0	1	0	0	0	10699	43	2	3	1209	3	NR2C2	3	15073889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	210908	15073889	182948541	2767	26269											
CAPN7	23473	broad.mit.edu	37	chr3	15292681	15292681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggatcttcaatatcattCctagtacctttttgcctaaa	10	16	5	10	0	3	0	2	0	1	0	4	1	4	1	3	1	2	1	3	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15292681C>T	ENST00000253693.2	+	21	2609	c.2356C>T	c.(2356-2358)Cct>Tct	p.P786S		NM_014296.2	NP_055111.1	Q9Y6W3	CAN7_HUMAN	calpain 7	786	Domain N.				proteolysis	nucleus	calcium-dependent cysteine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|skin(2)	22						CAATATCATTCCTAGTACCTT	0.338													T	15292681	C	T	15292681	3	4	364	1	0	0	0	0	1	0	0	0	2657	855	30	2	2438	2	CAPN7	3	15292681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218792	15292681	182729749	2768	26270											
SH3BP5	9467	broad.mit.edu	37	chr3	15298412	15298412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgctgcattcacttcgaggGcccaacactgggaacatcat	10	8	9	14	2	2	0	2	0	0	0	3	2	2	1	2	2	3	2	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15298412G>A	ENST00000383791.3	-	8	1318	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	SH3BP5_ENST00000408919.3_Silent_p.G209G|SH3BP5_ENST00000426925.1_Silent_p.G209G|SH3BP5_ENST00000253688.5_Silent_p.G209G|SH3BP5-AS1_ENST00000420195.1_RNA	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	366	Ser-rich.				intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						CACTTCGAGGGCCCAACACTG	0.597													A	15298412	G	A	15298412	2	1	364	1	0	0	0	0	0	0	0	1	14340	1190	42	2		2	SH3BP5	3	15298412	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5731	15298412	182724018	2769	26271											
METTL6	131965	broad.mit.edu	37	chr3	15452855	15452855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactcttggcacacacaGgccttcttttttattcaccg	10	13	6	12	1	3	0	1	0	2	0	3	1	3	0	2	2	1	1	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15452855G>T	ENST00000443029.1	-	6	1003	c.763C>A	c.(763-765)Ctg>Atg	p.L255M	METTL6_ENST00000383790.3_Missense_Mutation_p.L255M|METTL6_ENST00000450816.2_Missense_Mutation_p.L210M			Q8TCB7	METL6_HUMAN	methyltransferase like 6	255							methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(9)|lung(3)|prostate(1)	15						GGCACACACAGGCCTTCTTTT	0.453													T	15452855	G	T	15452855	3	4	364	1	0	0	0	0	1	0	0	0	9579	991	35	4	95	4	METTL6	3	15452855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154443	15452855	182569575	2770	26272											
EAF1	85403	broad.mit.edu	37	chr3	15478058	15478058	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccagccggccacaaggaAgcaaccagctcatgaacacc	15	2	9	15	1	1	1	1	1	0	0	1	3	1	2	5	2	6	2	5	2	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:15478058A>C	ENST00000396842.2	+	5	1161	c.736A>C	c.(736-738)Agc>Cgc	p.S246R	EAF1_ENST00000432764.2_Missense_Mutation_p.S145R|EAF1-AS1_ENST00000597949.1_RNA	NM_033083.6	NP_149074.3	Q96JC9	EAF1_HUMAN	ELL associated factor 1	246	Necessary for transactivation activity.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cajal body|nuclear speck	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	7						GCCACAAGGAAGCAACCAGCT	0.547													C	15478058	A	C	15478058	3	2	364	1	0	0	0	0	1	0	0	0	4914	72	3	5	754	5	EAF1	3	15478058	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25203	15478058	182544372	2771	26273											
PLCL2	23228	broad.mit.edu	37	chr3	17051820	17051820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctggtaccgaggtcacaAaggaagaatttattgaggtt	14	10	12	5	1	1	2	1	1	0	1	1	4	1	3	1	4	2	3	1	4	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:17051820A>G	ENST00000418129.2	+	2	1069	c.604A>G	c.(604-606)Aag>Gag	p.K202E	PLCL2_ENST00000460467.1_Intron|PLCL2_ENST00000396755.2_Missense_Mutation_p.K202E|PLCL2_ENST00000432376.1_Missense_Mutation_p.K202E	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	328	PH.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						CGAGGTCACAAAGGAAGAATT	0.333													G	17051820	A	G	17051820	3	3	364	1	0	0	0	0	1	0	0	0	12117	15	1	3	982	3	PLCL2	3	17051820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1573762	17051820	180970610	2772	26274											
SATB1	6304	broad.mit.edu	37	chr3	18419766	18419766	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagcattaatgttcatggTattgttctctggtttcccat	8	17	9	7	0	2	0	1	0	1	0	4	1	3	1	1	3	1	5	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18419766T>C	ENST00000338745.6	-	9	3205	c.1471A>G	c.(1471-1473)Acc>Gcc	p.T491A	SATB1_ENST00000454909.2_Missense_Mutation_p.T491A|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Missense_Mutation_p.T491A	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	491					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						ATGTTCATGGTATTGTTCTCT	0.388													C	18419766	T	C	18419766	3	2	364	1	0	0	0	0	1	0	0	0	13945	1638	57	3	832	3	SATB1	3	18419766	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1367946	18419766	179602664	2773	26275											
SATB1	6304	broad.mit.edu	37	chr3	18457582	18457582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcaggggcatctgtcacGtaagacagtggaactggatt	11	9	13	8	1	3	1	2	0	1	1	3	3	3	3	0	4	1	3	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18457582G>A	ENST00000338745.6	-	4	2166	c.432C>T	c.(430-432)taC>taT	p.Y144Y	SATB1_ENST00000454909.2_Silent_p.Y144Y|SATB1_ENST00000475083.1_5'UTR|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000417717.2_Silent_p.Y144Y	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	144	PDZ-like dimerization domain.				cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CATCTGTCACGTAAGACAGTG	0.388													A	18457582	G	A	18457582	2	1	364	1	0	0	0	0	0	0	0	1	13945	1140	40	1		1	SATB1	3	18457582	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37816	18457582	179564848	2774	26276											
SATB1	6304	broad.mit.edu	37	chr3	18462280	18462280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttttcatcagatggccCgagtgttttaaaggcactcc	8	14	10	9	1	2	1	2	0	0	1	3	2	3	1	2	3	0	3	2	3	2	5	rs138373358		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:18462280C>T	ENST00000338745.6	-	2	1914	c.180G>A	c.(178-180)tcG>tcA	p.S60S	SATB1_ENST00000454909.2_Silent_p.S60S|TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000493952.2_Silent_p.S60S|SATB1_ENST00000417717.2_Silent_p.S60S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	60					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCAGATGGCCCGAGTGTTTTA	0.507													T	18462280	C	T	18462280	2	4	364	1	0	0	0	0	0	0	0	1	13945	639	23	1		1	SATB1	3	18462280	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4698	18462280	179560150	2775	26277											
KCNH8	131096	broad.mit.edu	37	chr3	19492884	19492884	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaaagacagcatggtgCtggctattcttggtaggtct	8	15	11	7	0	3	1	0	0	3	1	3	1	3	1	0	4	2	4	0	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19492884C>A	ENST00000328405.2	+	10	2079	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	605						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CAGCATGGTGCTGGCTATTCT	0.448													A	19492884	C	A	19492884	3	1	364	1	0	0	0	0	1	0	0	0	8096	796	28	4	1851	4	KCNH8	3	19492884	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1030604	19492884	178529546	2776	26278											
KCNH8	131096	broad.mit.edu	37	chr3	19498417	19498417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagaatatgctcacaaattCgtggaagacattcagcatga	15	9	8	9	1	2	3	2	1	0	2	3	4	2	4	1	1	2	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19498417C>T	ENST00000328405.2	+	11	2249	c.1983C>T	c.(1981-1983)ttC>ttT	p.F661F		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	661						integral to membrane	two-component sensor activity	p.F661F(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CTCACAAATTCGTGGAAGACA	0.413													T	19498417	C	T	19498417	2	4	364	1	0	0	0	0	0	0	0	1	8096	883	31	1		1	KCNH8	3	19498417	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5533	19498417	178524013	2777	26279											
EFHB	151651	broad.mit.edu	37	chr3	19974983	19974983	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtttcattaaaacacaGgtagactctttttccatttc	10	17	6	8	0	2	1	1	0	1	1	4	1	3	1	1	2	1	2	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:19974983G>T	ENST00000295824.9	-	1	689	c.528C>A	c.(526-528)acC>acA	p.T176T	EFHB_ENST00000498089.1_5'UTR|EFHB_ENST00000344838.4_Intron	NM_144715.3	NP_653316.3	Q8N7U6	EFHB_HUMAN	EF-hand domain family, member B	176					signal transduction	proteinaceous extracellular matrix	calcium ion binding			breast(2)|endometrium(4)|kidney(1)|lung(17)|prostate(1)|urinary_tract(1)	26						TTAAAACACAGGTAGACTCTT	0.483													T	19974983	G	T	19974983	2	4	364	1	0	0	0	0	0	0	0	1	4984	987	35	4		4	EFHB	3	19974983	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	476566	19974983	178047447	2778	26280											
ZNF385D	79750	broad.mit.edu	37	chr3	21462709	21462709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttactcctatttggaatttaGtaaggagcaaacagcacagg	14	11	9	7	0	0	0	0	0	0	0	1	2	1	2	1	3	4	3	1	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:21462709G>A	ENST00000281523.2	-	8	1703	c.1185C>T	c.(1183-1185)taC>taT	p.Y395Y		NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	395						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						TTGGAATTTAGTAAGGAGCAA	0.428													A	21462709	G	A	21462709	2	1	364	1	0	0	0	0	0	0	0	1	17979	1024	36	2		2	ZNF385D	3	21462709	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1487726	21462709	176559721	2779	26281											
UBE2E1	7324	broad.mit.edu	37	chr3	23848871	23848871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaggagagtaaagtcagCatgagcaaaaactccaaact	20	5	9	7	0	1	3	1	1	0	2	2	4	2	3	1	1	4	3	1	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23848871C>T	ENST00000306627.3	+	2	330	c.111C>T	c.(109-111)agC>agT	p.S37S	UBE2E1_ENST00000346855.3_Silent_p.S37S	NM_003341.4	NP_003332.1	P51965	UB2E1_HUMAN	ubiquitin-conjugating enzyme E2E 1	37					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|histone H2B ubiquitination|histone monoubiquitination|ISG15-protein conjugation|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K48-linked ubiquitination	cytosol|nucleoplasm|ubiquitin ligase complex	ATP binding|ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(2)|large_intestine(4)	7						GTAAAGTCAGCATGAGCAAAA	0.493													T	23848871	C	T	23848871	2	4	364	1	0	0	0	0	0	0	0	1	16954	709	25	2		2	UBE2E1	3	23848871	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2386162	23848871	174173559	2780	26282											
RPL15	6138	broad.mit.edu	37	chr3	23960723	23960723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggggctctgagagtcCtgaattcttactgggttggt	6	14	14	7	0	2	2	0	2	2	1	3	3	3	2	1	4	1	2	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:23960723C>A	ENST00000307839.5	+	4	985	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	RPL15_ENST00000413699.1_Missense_Mutation_p.L116M|RPL15_ENST00000456530.2_Missense_Mutation_p.L116M|RPL15_ENST00000435882.1_Missense_Mutation_p.L116M|RPL15_ENST00000354811.5_Missense_Mutation_p.L116M|RPL15_ENST00000415719.1_Missense_Mutation_p.L116M|NKIRAS1_ENST00000421515.2_Intron	NM_001253379.1|NM_001253380.1|NM_002948.3	NP_001240308.1|NP_001240309.1|NP_002939.2	P61313	RL15_HUMAN	ribosomal protein L15	116					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7						TCTGAGAGTCCTGAATTCTTA	0.448													A	23960723	C	A	23960723	3	1	364	1	0	0	0	0	1	0	0	0	13653	680	24	4	356	4	RPL15	3	23960723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111852	23960723	174061707	2781	26283											
NR1D2	9975	broad.mit.edu	37	chr3	24006638	24006638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggtcaaccttttaaaGgctgggacttttgaggtagg	10	11	13	7	0	1	1	1	1	0	0	1	3	1	2	2	5	1	2	2	5	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24006638G>T	ENST00000312521.4	+	6	1636	c.1317G>T	c.(1315-1317)aaG>aaT	p.K439N	NR1D2_ENST00000492552.1_3'UTR	NM_001145425.1|NM_005126.4	NP_001138897.1|NP_005117	Q14995	NR1D2_HUMAN	nuclear receptor subfamily 1, group D, member 2	439					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			NS(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	22						ACCTTTTAAAGGCTGGGACTT	0.388													T	24006638	G	T	24006638	3	4	364	1	0	0	0	0	1	0	0	0	10692	991	35	4	1339	4	NR1D2	3	24006638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45915	24006638	174015792	2782	26284											
THRB	7068	broad.mit.edu	37	chr3	24164438	24164438	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggcattccaccttcatGtgcaggaagcggctggcatg	7	9	15	10	1	1	0	1	0	0	0	2	1	2	1	2	5	2	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:24164438G>A	ENST00000396671.2	-	11	1671	c.1323C>T	c.(1321-1323)caC>caT	p.H441H	THRB_ENST00000416420.1_Silent_p.H441H|THRB_ENST00000356447.4_Silent_p.H441H|THRB_ENST00000280696.5_Silent_p.H456H	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	441	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CCACCTTCATGTGCAGGAAGC	0.488													A	24164438	G	A	24164438	2	1	364	1	0	0	0	0	0	0	0	1	15975	1368	48	2		2	THRB	3	24164438	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157800	24164438	173857992	2783	26285											
TOP2B	7155	broad.mit.edu	37	chr3	25665884	25665884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgaagcaagttaatgttgTtacttcccacaaagttctga	12	13	8	8	0	1	2	0	2	1	0	2	2	2	2	1	0	2	6	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25665884T>C	ENST00000435706.2	-	20	2585	c.2384A>G	c.(2383-2385)aAc>aGc	p.N795S	TOP2B_ENST00000264331.4_Missense_Mutation_p.N800S			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	800					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						GTTAATGTTGTTACTTCCCAC	0.373													C	25665884	T	C	25665884	3	2	364	1	0	0	0	0	1	0	0	0	16467	1725	60	3	2549	3	TOP2B	3	25665884	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1501446	25665884	172356546	2784	26286											
TOP2B	7155	broad.mit.edu	37	chr3	25686851	25686851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgaagaagaatgtgttcaagTtgtgtcttcttctgatacac	11	14	9	7	1	4	3	1	1	3	2	4	4	4	3	0	0	1	2	0	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25686851T>C	ENST00000435706.2	-	2	366	c.165A>G	c.(163-165)caA>caG	p.Q55Q	TOP2B_ENST00000264331.4_Silent_p.Q60Q			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	60					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TGTGTTCAAGTTGTGTCTTCT	0.368													C	25686851	T	C	25686851	2	2	364	1	0	0	0	0	0	0	0	1	16467	1722	60	3		3	TOP2B	3	25686851	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20967	25686851	172335579	2785	26287											
NGLY1	55768	broad.mit.edu	37	chr3	25773856	25773856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaagccactgacccaGatattcttcccccaagttct	9	11	4	17	0	3	2	0	1	3	1	5	2	4	2	5	0	1	1	5	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773856G>T	ENST00000428257.1	-	9	1432	c.1325C>A	c.(1324-1326)tCt>tAt	p.S442Y	NGLY1_ENST00000417874.2_Missense_Mutation_p.S418Y|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Missense_Mutation_p.S460Y|NGLY1_ENST00000396649.3_Missense_Mutation_p.S460Y|NGLY1_ENST00000467224.1_Intron	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	460					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CACTGACCCAGATATTCTTCC	0.413													T	25773856	G	T	25773856	3	4	364	1	0	0	0	0	1	0	0	0	10474	942	33	4	601	4	NGLY1	3	25773856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87005	25773856	172248574	2786	26288											
NGLY1	55768	broad.mit.edu	37	chr3	25773921	25773921	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaattcaacaagctccacAattatcctctggagaagttc	15	11	5	10	0	2	1	1	0	1	1	5	2	4	1	2	1	2	2	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25773921A>G	ENST00000428257.1	-	9	1367	c.1260T>C	c.(1258-1260)atT>atC	p.I420I	NGLY1_ENST00000417874.2_Silent_p.I396I|NGLY1_ENST00000422724.2_3'UTR|NGLY1_ENST00000280700.5_Silent_p.I438I|NGLY1_ENST00000396649.3_Silent_p.I438I|NGLY1_ENST00000467224.1_Intron	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	438					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						CAAGCTCCACAATTATCCTCT	0.398													G	25773921	A	G	25773921	2	3	364	1	0	0	0	0	0	0	0	1	10474	126	5	3		3	NGLY1	3	25773921	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	65	25773921	172248509	2787	26289											
OXSM	54995	broad.mit.edu	37	chr3	25835792	25835792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggggcagtcgaggcagCttttaccacattagcttgtt	8	12	12	9	1	0	0	0	0	0	0	1	1	0	0	1	3	4	6	1	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:25835792C>A	ENST00000280701.3	+	3	1286	c.1187C>A	c.(1186-1188)gCt>gAt	p.A396D	OXSM_ENST00000420173.2_Missense_Mutation_p.A313D	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	396					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCGAGGCAGCTTTTACCACA	0.438													A	25835792	C	A	25835792	3	1	364	1	0	0	0	0	1	0	0	0	11411	797	28	4	1193	4	OXSM	3	25835792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61871	25835792	172186638	2788	26290											
LRRC3B	116135	broad.mit.edu	37	chr3	26751326	26751326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtagcaatgcaaatCtcaaggaaatacctagagat	16	9	7	9	0	2	1	2	0	1	1	3	3	2	2	2	1	3	3	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:26751326C>A	ENST00000396641.2	+	2	755	c.163C>A	c.(163-165)Ctc>Atc	p.L55I	LRRC3B_ENST00000417744.1_Missense_Mutation_p.L55I|LRRC3B_ENST00000456208.2_Missense_Mutation_p.L55I	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	55	LRRNT.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATGCAAATCTCAAGGAAAT	0.413													A	26751326	C	A	26751326	3	1	364	1	0	0	0	0	1	0	0	0	9066	913	32	4	165	4	LRRC3B	3	26751326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	915534	26751326	171271104	2789	26291											
SLC4A7	9497	broad.mit.edu	37	chr3	27475580	27475580	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attggccagaagctatcatgTtgtctaataccatatctatt	12	15	6	8	0	3	1	1	0	2	1	3	1	3	1	2	1	2	2	2	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:27475580T>C	ENST00000295736.5	-	6	648	c.578A>G	c.(577-579)aAc>aGc	p.N193S	SLC4A7_ENST00000437179.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000428386.1_Missense_Mutation_p.N193S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000446700.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N202S|SLC4A7_ENST00000455077.1_Missense_Mutation_p.N198S|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N198S|SLC4A7_ENST00000435667.2_Missense_Mutation_p.N202S	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	193						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AGCTATCATGTTGTCTAATAC	0.338													C	27475580	T	C	27475580	3	2	364	1	0	0	0	0	1	0	0	0	14752	1725	60	3	3146	3	SLC4A7	3	27475580	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	724254	27475580	170546850	2790	26292											
AZI2	64343	broad.mit.edu	37	chr3	28368334	28368334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacttgcctttcttgattGcagttgaggttttcagtttt	5	20	10	6	0	2	3	1	3	1	0	2	3	2	3	1	1	2	4	1	1	0	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:28368334G>A	ENST00000479665.1	-	7	1286	c.755C>T	c.(754-756)gCa>gTa	p.A252V	AZI2_ENST00000295748.3_5'UTR	NM_022461.3	NP_071906.1	Q9H6S1	AZI2_HUMAN	5-azacytidine induced 2	252	Interaction with TBK1.					mitochondrion|plasma membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15						TTTCTTGATTGCAGTTGAGGT	0.398													A	28368334	G	A	28368334	3	1	364	1	0	0	0	0	1	0	0	0	1246	1319	46	2	431	2	AZI2	3	28368334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	892754	28368334	169654096	2791	26293											
RBMS3	27303	broad.mit.edu	37	chr3	29628682	29628682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaggcaaatggcgtgcagGcacagatggctaaggtaaga	14	6	14	7	1	1	2	1	0	0	2	1	2	1	2	0	5	1	5	0	5	4	2	rs145048415		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:29628682G>A	ENST00000434693.2	+	4	1082	c.382G>A	c.(382-384)Gca>Aca	p.A128T	RBMS3_ENST00000445033.1_Missense_Mutation_p.A129T|RBMS3_ENST00000452462.1_Missense_Mutation_p.A129T|RBMS3_ENST00000396583.3_Missense_Mutation_p.A129T|RBMS3_ENST00000273139.9_Missense_Mutation_p.A129T|RBMS3_ENST00000383767.2_Missense_Mutation_p.A129T|RBMS3_ENST00000456853.1_Missense_Mutation_p.A129T|RBMS3_ENST00000383766.2_Missense_Mutation_p.A128T	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	129	RRM 1.					cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				TGGCGTGCAGGCACAGATGGC	0.418													A	29628682	G	A	29628682	3	1	364	1	0	0	0	0	1	0	0	0	13238	1203	42	2	399	2	RBMS3	3	29628682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1260348	29628682	168393748	2792	26294											
TGFBR2	7048	broad.mit.edu	37	chr3	30691945	30691945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgacaacatcatcttCtcagaaggtgagttttcttc	11	14	7	9	0	4	3	2	2	3	1	6	3	4	3	0	1	2	2	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30691945C>A	ENST00000295754.5	+	3	829	c.447C>A	c.(445-447)ttC>ttA	p.F149L	TGFBR2_ENST00000359013.4_Missense_Mutation_p.F174L	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	149					activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						ACATCATCTTCTCAGAAGGTG	0.428													A	30691945	C	A	30691945	3	1	364	1	0	0	0	0	1	0	0	0	15922	912	32	4	536	4	TGFBR2	3	30691945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1063263	30691945	167330485	2793	26295											
TGFBR2	7048	broad.mit.edu	37	chr3	30713915	30713915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctgtctgtggatgacctgGctaacagtgggcaggtaagt	8	11	14	8	0	2	1	0	1	2	0	2	2	2	2	1	4	1	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30713915G>A	ENST00000295754.5	+	4	1622	c.1240G>A	c.(1240-1242)Gct>Act	p.A414T	TGFBR2_ENST00000359013.4_Missense_Mutation_p.A439T	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	414	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						GGATGACCTGGCTAACAGTGG	0.522													A	30713915	G	A	30713915	3	1	364	1	0	0	0	0	1	0	0	0	15922	1203	42	2	1333	2	TGFBR2	3	30713915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21970	30713915	167308515	2794	26296											
GADL1	339896	broad.mit.edu	37	chr3	30842578	30842578	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagcattttttaagaagAtccttcgaaaaagaaaagat	18	11	8	4	1	0	4	0	0	0	4	2	6	1	4	1	0	1	2	1	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:30842578A>G	ENST00000454381.3	-	12	1099	c.1053T>C	c.(1051-1053)gaT>gaC	p.D351D	GADL1_ENST00000282538.5_Silent_p.D351D			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	351					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	TTTTAAGAAGATCCTTCGAAA	0.353													G	30842578	A	G	30842578	2	3	364	1	0	0	0	0	0	0	0	1	6237	330	12	3		3	GADL1	3	30842578	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	128663	30842578	167179852	2795	26297											
ZNF860	344787	broad.mit.edu	37	chr3	32030954	32030954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagccatgaagcaactaTgacacaaatcaaaaagttga	21	7	6	7	0	1	3	1	3	0	0	1	3	1	3	1	0	3	2	1	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030954T>C	ENST00000360311.4	+	2	932	c.383T>C	c.(382-384)aTg>aCg	p.M128T		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	128					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GAAGCAACTATGACACAAATC	0.383													C	32030954	T	C	32030954	3	2	364	1	0	0	0	0	1	0	0	0	18293	1464	51	3	385	3	ZNF860	3	32030954	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1188376	32030954	165991476	2796	26298											
ZNF860	344787	broad.mit.edu	37	chr3	32030987	32030987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttgactggtagcaccgAcagatatgatcgaaggcatc	14	8	11	8	2	0	3	0	2	0	1	2	5	0	3	1	2	1	4	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32030987A>G	ENST00000360311.4	+	2	965	c.416A>G	c.(415-417)gAc>gGc	p.D139G		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	139					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GGTAGCACCGACAGATATGAT	0.393													G	32030987	A	G	32030987	3	3	364	1	0	0	0	0	1	0	0	0	18293	275	10	3	418	3	ZNF860	3	32030987	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33	32030987	165991443	2797	26299											
ZNF860	344787	broad.mit.edu	37	chr3	32032013	32032013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatactggagagaaacCttacaagtgtaatgagtgtg	15	11	10	5	0	1	2	1	1	0	1	1	4	1	3	1	1	3	1	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32032013C>A	ENST00000360311.4	+	2	1991	c.1442C>A	c.(1441-1443)cCt>cAt	p.P481H		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	481					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						GGAGAGAAACCTTACAAGTGT	0.403													A	32032013	C	A	32032013	3	1	364	1	0	0	0	0	1	0	0	0	18293	681	24	4	1444	4	ZNF860	3	32032013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1026	32032013	165990417	2798	26300											
DYNC1LI1	51143	broad.mit.edu	37	chr3	32586466	32586466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaaagaatccaaagcaGtccaaggctttgacatgtca	14	10	8	9	0	2	2	1	1	1	1	4	2	4	2	2	1	1	3	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32586466G>A	ENST00000273130.4	-	4	573	c.470C>T	c.(469-471)aCt>aTt	p.T157I	DYNC1LI1_ENST00000432458.2_Intron	NM_016141.3	NP_057225.2	Q9Y6G9	DC1L1_HUMAN	dynein, cytoplasmic 1, light intermediate chain 1	157					cell division|interspecies interaction between organisms|mitosis|positive regulation of mitotic cell cycle spindle assembly checkpoint|transport	centrosome|condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|plasma membrane|spindle pole	ATP binding|motor activity			kidney(2)|large_intestine(1)|lung(3)|ovary(1)	7						ATCCAAAGCAGTCCAAGGCTT	0.398													A	32586466	G	A	32586466	3	1	364	1	0	0	0	0	1	0	0	0	4883	1029	36	2	1141	2	DYNC1LI1	3	32586466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	554453	32586466	165435964	2799	26301											
CNOT10	25904	broad.mit.edu	37	chr3	32754743	32754744	+	Frame_Shift_Ins	INS	-	-	T																															aaatttgcccaagcagtgtgINSttttttgcttgtagacctgt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32754743_32754744insT	ENST00000328834.5	+	5	771_772	c.455_456insT	c.(454-459)tgttttfs	p.CF152fs	CNOT10_ENST00000454516.2_Frame_Shift_Ins_p.CF212fs|CNOT10_ENST00000331889.6_Frame_Shift_Ins_p.CF152fs|CNOT10_ENST00000538368.1_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	152					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						CAAGCAGTGTGTTTTTTGCTTG	0.361													T	32754744	-	T	32754743	7	5	364	1	0	1	1	0	0	0	0	0	3649	1377	48	0	473	0	CNOT10	3	32754743	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	168277	32754743	165267687	2800	26302											
CNOT10	25904	broad.mit.edu	37	chr3	32778978	32778978	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaacaggaattagaaaacTtaaagtgagtatctaaacaa	22	8	7	4	0	1	2	0	1	1	1	1	4	1	3	0	1	3	1	0	1	12	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32778978T>G	ENST00000328834.5	+	13	1907	c.1591T>G	c.(1591-1593)Tta>Gta	p.L531V	CNOT10_ENST00000538368.1_Missense_Mutation_p.L303V|CNOT10_ENST00000454516.2_Missense_Mutation_p.L591V|CNOT10_ENST00000331889.6_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	531					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						ATTAGAAAACTTAAAGTGAGT	0.373													G	32778978	T	G	32778978	3	3	364	1	0	0	0	0	1	0	0	0	3649	1606	56	5	1641	5	CNOT10	3	32778978	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24235	32778978	165243452	2801	26303											
TRIM71	131405	broad.mit.edu	37	chr3	32927435	32927435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggttttccagctgagcatcGagcaggcccagacggtggcg	7	8	15	11	3	0	2	0	1	0	1	2	3	1	2	2	4	3	4	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32927435G>A	ENST00000383763.5	+	3	1093	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGAGCATCGAGCAGGCCCA	0.498													A	32927435	G	A	32927435	3	1	364	1	0	0	0	0	1	0	0	0	16645	1059	37	1	1040	1	TRIM71	3	32927435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148457	32927435	165094995	2802	26304											
CCR4	1233	broad.mit.edu	37	chr3	32995243	32995243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtttttgggctaggtctgtGcaagatgatttcctggatgt	6	16	14	5	0	1	2	0	1	1	1	2	3	2	3	1	4	1	3	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:32995243G>A	ENST00000330953.5	+	2	497	c.329G>A	c.(328-330)tGc>tAc	p.C110Y		NM_005508.4	NP_005499.1	P51679	CCR4_HUMAN	chemokine (C-C motif) receptor 4	110					chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response	integral to plasma membrane				NS(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)|stomach(1)	16						CTAGGTCTGTGCAAGATGATT	0.488													A	32995243	G	A	32995243	3	1	364	1	0	0	0	0	1	0	0	0	2973	1319	46	2	331	2	CCR4	3	32995243	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67808	32995243	165027187	2803	26305											
GLB1	2720	broad.mit.edu	37	chr3	33099698	33099698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagatggtggcgaaagcGcttctgcaggaagcgcaggt	9	6	15	11	3	1	1	0	0	1	1	1	3	1	2	2	4	3	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33099698G>A	ENST00000307363.5	-	6	760	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	GLB1_ENST00000399402.3_Missense_Mutation_p.R176C|GLB1_ENST00000445488.2_Missense_Mutation_p.R254C|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	206					carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				TGGCGAAAGCGCTTCTGCAGG	0.483													A	33099698	G	A	33099698	3	1	364	1	0	0	0	0	1	0	0	0	6483	1087	38	1	1461	1	GLB1	3	33099698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104455	33099698	164922732	2804	26306											
TMPPE	643853	broad.mit.edu	37	chr3	33134502	33134502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgttcaaggggaagatctGcccagcatgtgtgtgcccag	9	9	13	10	1	2	1	1	0	1	1	2	2	2	2	2	2	4	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33134502G>A	ENST00000342462.4	-	2	1376	c.1186C>T	c.(1186-1188)Cag>Tag	p.Q396*	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Nonsense_Mutation_p.Q259*	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	396						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGGAAGATCTGCCCAGCATGT	0.552													A	33134502	G	A	33134502	4	1	364	1	0	0	0	0	0	1	0	0	16338	1328	46	2	179	2	TMPPE	3	33134502	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34804	33134502	164887928	2805	26307											
TMPPE	643853	broad.mit.edu	37	chr3	33135232	33135232	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttctcaaggctgcccacGaccctaccactgcgccaggc	7	7	9	18	2	2	0	1	0	2	0	3	1	2	0	4	2	3	1	4	2	2	2	rs148801297		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33135232G>A	ENST00000342462.4	-	2	646	c.456C>T	c.(454-456)gtC>gtT	p.V152V	GLB1_ENST00000399402.3_Intron|GLB1_ENST00000307363.5_Intron|GLB1_ENST00000445488.2_Intron|GLB1_ENST00000307377.8_Intron|TMPPE_ENST00000416695.2_Silent_p.V15V	NM_001039770.2	NP_001034859.2	Q6ZT21	TMPPE_HUMAN	transmembrane protein with metallophosphoesterase domain	152						integral to membrane	metal ion binding			breast(1)|large_intestine(5)|lung(6)|prostate(1)	13						GGCTGCCCACGACCCTACCAC	0.612													A	33135232	G	A	33135232	2	1	364	1	0	0	0	0	0	0	0	1	16338	1045	37	1		1	TMPPE	3	33135232	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	730	33135232	164887198	2806	26308											
SUSD5	26032	broad.mit.edu	37	chr3	33195514	33195514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcttcatagtcaatgtgtgCctcagcctcatctggaagaa	11	12	8	10	0	6	1	4	0	2	1	6	2	6	2	2	1	2	0	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33195514C>T	ENST00000309558.3	-	5	1027	c.610G>A	c.(610-612)Gca>Aca	p.A204T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	204					cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCAATGTGTGCCTCAGCCTCA	0.448													T	33195514	C	T	33195514	3	4	364	1	0	0	0	0	1	0	0	0	15507	739	26	2	1283	2	SUSD5	3	33195514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60282	33195514	164826916	2807	26309											
SUSD5	26032	broad.mit.edu	37	chr3	33255436	33255436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacccaagagtaccatctgCtagccagccagtggtgcaca	11	8	9	13	0	1	1	0	0	1	1	1	1	1	1	4	1	6	3	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33255436C>T	ENST00000309558.3	-	2	691	c.274G>A	c.(274-276)Gca>Aca	p.A92T		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	92	Link.				cell adhesion	integral to membrane	hyaluronic acid binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						GTACCATCTGCTAGCCAGCCA	0.542													T	33255436	C	T	33255436	3	4	364	1	0	0	0	0	1	0	0	0	15507	797	28	2	1631	2	SUSD5	3	33255436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59922	33255436	164766994	2808	26310											
FBXL2	25827	broad.mit.edu	37	chr3	33416806	33416806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggatgaaggtgtggtgcaGatatgcaggggctgtcaccg	9	8	17	7	2	1	2	1	1	0	1	1	3	1	3	1	5	2	3	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33416806G>T	ENST00000484457.1	+	10	775	c.684G>T	c.(682-684)caG>caT	p.Q228H	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Missense_Mutation_p.Q160H|FBXL2_ENST00000538181.1_Missense_Mutation_p.Q144H|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	228					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						GTGTGGTGCAGATATGCAGGG	0.532													T	33416806	G	T	33416806	3	4	364	1	0	0	0	0	1	0	0	0	5765	933	33	4	722	4	FBXL2	3	33416806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161370	33416806	164605624	2809	26311											
FBXL2	25827	broad.mit.edu	37	chr3	33418801	33418801	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctcccatttgactgaCgcaggttttacacttttagc	8	14	8	11	2	0	2	0	2	0	0	1	3	1	2	1	1	3	3	1	1	2	5	rs139204865		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33418801C>T	ENST00000484457.1	+	11	916	c.825C>T	c.(823-825)gaC>gaT	p.D275D	FBXL2_ENST00000283627.6_3'UTR|FBXL2_ENST00000538892.1_Silent_p.D207D|FBXL2_ENST00000446237.3_5'UTR|FBXL2_ENST00000507198.1_Silent_p.D207D|FBXL2_ENST00000538181.1_Silent_p.D191D|FBXL2_ENST00000542085.1_5'UTR	NM_012157.3	NP_036289.3	Q9UKC9	FBXL2_HUMAN	F-box and leucine-rich repeat protein 2	275					interspecies interaction between organisms|proteolysis	cytoplasm|membrane	protein binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|urinary_tract(1)	15						ATTTGACTGACGCAGGTTTTA	0.423													T	33418801	C	T	33418801	2	4	364	1	0	0	0	0	0	0	0	1	5765	535	19	1		1	FBXL2	3	33418801	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1995	33418801	164603629	2810	26312											
UBP1	7342	broad.mit.edu	37	chr3	33441687	33441687	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacatacacatacctgaaaAattagagaacagtcttgtgt	17	10	6	8	0	1	2	0	1	1	1	1	3	1	2	1	0	3	0	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33441687A>C	ENST00000283629.3	-	11	1703	c.1174T>G	c.(1174-1176)Ttt>Gtt	p.F392V	UBP1_ENST00000486388.1_5'UTR|UBP1_ENST00000447368.2_Missense_Mutation_p.F356V|UBP1_ENST00000283628.5_Missense_Mutation_p.F392V	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	392					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						ATACCTGAAAAATTAGAGAAC	0.328													C	33441687	A	C	33441687	3	2	364	1	0	0	0	0	1	0	0	0	16997	14	1	5	472	5	UBP1	3	33441687	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22886	33441687	164580743	2811	26313											
UBP1	7342	broad.mit.edu	37	chr3	33453088	33453088	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacctgaatgaaagcagaGgtgcgttttgctgggtccca	11	9	12	9	1	0	3	0	2	0	1	1	3	1	3	2	2	4	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33453088G>T	ENST00000283629.3	-	5	1069	c.540C>A	c.(538-540)acC>acA	p.T180T	UBP1_ENST00000447368.2_Silent_p.T180T|UBP1_ENST00000283628.5_Silent_p.T180T	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	180					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGAAAGCAGAGGTGCGTTTTG	0.368													T	33453088	G	T	33453088	2	4	364	1	0	0	0	0	0	0	0	1	16997	987	35	4		4	UBP1	3	33453088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11401	33453088	164569342	2812	26314											
CLASP2	23122	broad.mit.edu	37	chr3	33592888	33592888	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggatagcaaccttcacCtgcagaggaaagcacaaaga	17	6	9	9	0	1	2	1	0	0	2	1	4	1	4	2	2	4	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33592888C>A	ENST00000399362.4	-	30	3384		c.e30-1		CLASP2_ENST00000307312.7_Splice_Site|CLASP2_ENST00000539981.1_Splice_Site|CLASP2_ENST00000461133.3_Splice_Site|CLASP2_ENST00000468888.2_Splice_Site|CLASP2_ENST00000480013.1_Splice_Site|CLASP2_ENST00000359576.5_Splice_Site	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2											breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						CAACCTTCACCTGCAGAGGAA	0.383													A	33592888	C	A	33592888	5	1	364	1	0	0	0	0	0	0	1	0	3486	695	24	4	1551	4	CLASP2	3	33592888	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139800	33592888	164429542	2813	26315											
CLASP2	23122	broad.mit.edu	37	chr3	33663726	33663726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaatgttgaaaaaagcaaTcatactgtgcagctccagca	16	9	8	8	0	1	1	1	1	0	0	2	1	2	1	1	0	5	6	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:33663726T>C	ENST00000399362.4	-	11	1435	c.1082A>G	c.(1081-1083)gAt>gGt	p.D361G	CLASP2_ENST00000307312.7_5'UTR|CLASP2_ENST00000313350.6_Missense_Mutation_p.D134G|CLASP2_ENST00000487200.1_Missense_Mutation_p.D134G|CLASP2_ENST00000539981.1_Missense_Mutation_p.D113G|CLASP2_ENST00000461133.3_Missense_Mutation_p.D128G|CLASP2_ENST00000468888.2_Missense_Mutation_p.D362G|CLASP2_ENST00000482896.1_5'UTR|CLASP2_ENST00000480013.1_Missense_Mutation_p.D128G|CLASP2_ENST00000333778.6_Missense_Mutation_p.D138G|CLASP2_ENST00000359576.5_Missense_Mutation_p.D361G	NM_015097.2	NP_055912.2	B2RTR1	B2RTR1_HUMAN	cytoplasmic linker associated protein 2	362										breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	48						AAAAAAGCAATCATACTGTGC	0.368													C	33663726	T	C	33663726	3	2	364	1	0	0	0	0	1	0	0	0	3486	1435	50	3	3550	3	CLASP2	3	33663726	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	70838	33663726	164358704	2814	26316											
ARPP21	10777	broad.mit.edu	37	chr3	35729275	35729275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttttccagcctgcaagaGgaggataaatctaggaaaga	15	9	11	6	0	1	2	0	0	1	2	2	5	2	5	2	3	2	2	2	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35729275G>T	ENST00000187397.4	+	6	762	c.306G>T	c.(304-306)gaG>gaT	p.E102D	ARPP21_ENST00000458225.1_Missense_Mutation_p.E102D|ARPP21_ENST00000417925.1_Missense_Mutation_p.E102D|ARPP21_ENST00000337271.5_Missense_Mutation_p.E102D|ARPP21_ENST00000444190.1_Missense_Mutation_p.E102D	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	102						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						GCCTGCAAGAGGAGGATAAAT	0.348													T	35729275	G	T	35729275	3	4	364	1	0	0	0	0	1	0	0	0	983	991	35	4	333	4	ARPP21	3	35729275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2065549	35729275	162293155	2815	26317											
ARPP21	10777	broad.mit.edu	37	chr3	35770971	35770971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaccagctacatcctccttCcacttgaagctgcaacaggc	10	8	7	16	0	0	1	0	1	0	0	3	1	3	1	4	1	5	4	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:35770971C>T	ENST00000187397.4	+	15	1858	c.1402C>T	c.(1402-1404)Cca>Tca	p.P468S	ARPP21_ENST00000458225.1_Missense_Mutation_p.P434S|ARPP21_ENST00000417925.1_Missense_Mutation_p.P434S|ARPP21_ENST00000337271.5_Missense_Mutation_p.P414S|ARPP21_ENST00000444190.1_Missense_Mutation_p.P414S	NM_016300.4	NP_057384.2	Q9UBL0	ARP21_HUMAN	cAMP-regulated phosphoprotein, 21kDa	468						cytoplasm	nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	61						CATCCTCCTTCCACTTGAAGC	0.537													T	35770971	C	T	35770971	3	4	364	1	0	0	0	0	1	0	0	0	983	855	30	2	1465	2	ARPP21	3	35770971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41696	35770971	162251459	2816	26318											
STAC	6769	broad.mit.edu	37	chr3	36570431	36570431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagatgtgttagaacctTcattgggtgtaaggaacagg	11	14	12	4	0	1	2	1	0	0	2	1	3	1	3	1	3	2	2	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36570431T>G	ENST00000273183.3	+	10	1364	c.1064T>G	c.(1063-1065)tTc>tGc	p.F355C	STAC_ENST00000457375.2_Missense_Mutation_p.F294C	NM_003149.1	NP_003140.1	Q99469	STAC_HUMAN	SH3 and cysteine rich domain	355					intracellular signal transduction	cytoplasm|soluble fraction	metal ion binding			endometrium(5)|large_intestine(9)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(5)	32						GTTAGAACCTTCATTGGGTGT	0.393													G	36570431	T	G	36570431	3	3	364	1	0	0	0	0	1	0	0	0	15335	1783	62	5	1102	5	STAC	3	36570431	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	799460	36570431	161451999	2817	26319											
DCLK3	85443	broad.mit.edu	37	chr3	36763110	36763110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcaagtccaaaatcaGccaatttcaaggtagtagat	14	11	8	8	0	2	1	2	0	0	1	3	1	3	1	2	1	2	4	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36763110G>A	ENST00000416516.2	-	3	1983	c.1493C>T	c.(1492-1494)gCt>gTt	p.A498V	DCLK3_ENST00000498047.1_5'UTR	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	498	Protein kinase.					cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCAAAATCAGCCAATTTCAA	0.408													A	36763110	G	A	36763110	3	1	364	1	0	0	0	0	1	0	0	0	4327	971	34	2	465	2	DCLK3	3	36763110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192679	36763110	161259320	2818	26320											
DCLK3	85443	broad.mit.edu	37	chr3	36779337	36779337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaggagccagccaccatGtttgctcctgctcatgggcc	6	10	10	15	0	2	0	2	0	1	0	4	1	3	1	5	2	4	3	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36779337G>A	ENST00000416516.2	-	2	1304	c.814C>T	c.(814-816)Cat>Tat	p.H272Y		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	272						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CAGCCACCATGTTTGCTCCTG	0.572													A	36779337	G	A	36779337	3	1	364	1	0	0	0	0	1	0	0	0	4327	1377	48	2	1148	2	DCLK3	3	36779337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16227	36779337	161243093	2819	26321											
TRANK1	9881	broad.mit.edu	37	chr3	36879871	36879871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagccatacctttcccaGcctctcgcacagctgggcag	8	8	10	15	1	1	0	0	0	1	0	3	1	2	1	4	2	4	3	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36879871G>A	ENST00000429976.2	-	19	5624	c.5377C>T	c.(5377-5379)Ctg>Ttg	p.L1793L	TRANK1_ENST00000428977.2_Silent_p.L1243L|TRANK1_ENST00000301807.6_Silent_p.L1243L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1793					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACCTTTCCCAGCCTCTCGCAC	0.537													A	36879871	G	A	36879871	2	1	364	1	0	0	0	0	0	0	0	1	16555	962	34	2		2	TRANK1	3	36879871	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100534	36879871	161142559	2820	26322											
TRANK1	9881	broad.mit.edu	37	chr3	36896952	36896952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaccctgagcttcgacaGcctccgggatatgttgtaca	9	9	11	12	2	0	1	0	1	0	0	2	4	1	2	3	1	4	4	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36896952G>A	ENST00000429976.2	-	12	4376	c.4129C>T	c.(4129-4131)Ctg>Ttg	p.L1377L	TRANK1_ENST00000428977.2_Silent_p.L827L|TRANK1_ENST00000301807.6_Silent_p.L827L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1377					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						AGCTTCGACAGCCTCCGGGAT	0.502													A	36896952	G	A	36896952	2	1	364	1	0	0	0	0	0	0	0	1	16555	962	34	2		2	TRANK1	3	36896952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17081	36896952	161125478	2821	26323											
TRANK1	9881	broad.mit.edu	37	chr3	36897304	36897304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctacagctttatcctcCtcactgtagtccccatccac	8	14	3	16	0	2	0	1	0	1	0	6	0	6	0	5	0	2	2	5	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36897304C>A	ENST00000429976.2	-	12	4024	c.3777G>T	c.(3775-3777)gaG>gaT	p.E1259D	TRANK1_ENST00000428977.2_Missense_Mutation_p.E709D|TRANK1_ENST00000301807.6_Missense_Mutation_p.E709D	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1259					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CTTTATCCTCCTCACTGTAGT	0.483													A	36897304	C	A	36897304	3	1	364	1	0	0	0	0	1	0	0	0	16555	680	24	4	5048	4	TRANK1	3	36897304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	352	36897304	161125126	2822	26324											
TRANK1	9881	broad.mit.edu	37	chr3	36898233	36898233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctccacatagcagcGaggtatacgcttttgaattt	9	14	9	9	2	0	1	0	1	0	0	2	2	2	1	2	1	3	3	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:36898233G>T	ENST00000429976.2	-	12	3095	c.2848C>A	c.(2848-2850)Cgc>Agc	p.R950S	TRANK1_ENST00000428977.2_Missense_Mutation_p.R400S|TRANK1_ENST00000301807.6_Missense_Mutation_p.R400S	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	950					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	p.R400S(2)|p.R950S(1)		NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATAGCAGCGAGGTATACGC	0.498													T	36898233	G	T	36898233	3	4	364	1	0	0	0	0	1	0	0	0	16555	1058	37	4	5977	4	TRANK1	3	36898233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	929	36898233	161124197	2823	26325											
MLH1	4292	broad.mit.edu	37	chr3	37056036	37056036	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttactcttcatcaaccGtaagttaaaaagaaccacat	15	12	3	11	1	4	1	2	0	2	1	4	1	4	1	2	0	3	2	2	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37056036G>A	ENST00000231790.2	+	9	1006		c.e9+1		MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000536378.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.?(8)|p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTCATCAACCGTAAGTTAAAA	0.378		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	37056036	G	A	37056036	5	1	364	1	0	0	0	0	0	0	1	0	9692	1159	40	1	825	1	MLH1	3	37056036	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157803	37056036	160966394	2824	26326											
MLH1	4292	broad.mit.edu	37	chr3	37067299	37067299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcctctgagcaaacccCtgtccagtcagccccaggcc	8	6	9	18	0	2	1	1	1	1	0	3	1	3	1	7	1	5	2	7	1	1	0	rs63751015		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37067299C>A	ENST00000231790.2	+	12	1426	c.1210C>A	c.(1210-1212)Ctg>Atg	p.L404M	MLH1_ENST00000458205.2_Missense_Mutation_p.L163M|MLH1_ENST00000455445.2_Missense_Mutation_p.L163M|MLH1_ENST00000435176.1_Missense_Mutation_p.L306M|MLH1_ENST00000539477.1_Missense_Mutation_p.L163M|MLH1_ENST00000536378.1_Missense_Mutation_p.L163M	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	404					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						GAGCAAACCCCTGTCCAGTCA	0.517		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	37067299	C	A	37067299	3	1	364	1	0	0	0	0	1	0	0	0	9692	680	24	4	1256	4	MLH1	3	37067299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11263	37067299	160955131	2825	26327											
LRRFIP2	9209	broad.mit.edu	37	chr3	37107390	37107390	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggttcatgactgacaTcaccattgggagtgccatcg	9	10	10	12	1	2	2	2	2	0	0	3	3	2	3	3	2	1	1	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37107390T>G	ENST00000421307.1	-	24	2032	c.1610A>C	c.(1609-1611)gAt>gCt	p.D537A	LRRFIP2_ENST00000421276.2_Missense_Mutation_p.D240A|LRRFIP2_ENST00000396428.2_Missense_Mutation_p.D319A|LRRFIP2_ENST00000354379.4_Missense_Mutation_p.D216A|LRRFIP2_ENST00000336686.4_Missense_Mutation_p.D537A|LRRFIP2_ENST00000440230.1_Missense_Mutation_p.D240A	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2	537					Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						ATGACTGACATCACCATTGGG	0.512													G	37107390	T	G	37107390	3	3	364	1	0	0	0	0	1	0	0	0	9098	1435	50	5	579	5	LRRFIP2	3	37107390	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40091	37107390	160915040	2826	26328											
C3orf35	339883	broad.mit.edu	37	chr3	37458932	37458932	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcagagcagatgggcctgCagggcagtgctcagcatttc	9	8	14	10	0	1	2	1	0	0	2	2	2	1	2	1	2	5	6	1	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37458932C>T	ENST00000328376.5	+	5	1154	c.175C>T	c.(175-177)Cag>Tag	p.Q59*	C3orf35_ENST00000425932.1_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000426078.1_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000425564.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000452017.2_Nonsense_Mutation_p.Q59*|C3orf35_ENST00000481400.1_Intron	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	59						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GATGGGCCTGCAGGGCAGTGC	0.453													T	37458932	C	T	37458932	4	4	364	1	0	0	0	0	0	1	0	0	2246	711	25	2	177	2	C3orf35	3	37458932	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351542	37458932	160563498	2827	26329											
ITGA9	3680	broad.mit.edu	37	chr3	37544692	37544692	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtggtgatgggtgctccAgggtcattttattgggctgg	4	14	17	6	0	1	1	1	1	0	0	2	1	2	1	1	6	1	2	1	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:37544692A>G	ENST00000264741.5	+	6	892	c.636A>G	c.(634-636)ccA>ccG	p.P212P	ITGA9_ENST00000422441.1_Silent_p.P212P	NM_002207.2	NP_002198.2	Q13797	ITA9_HUMAN	integrin, alpha 9	212					axon guidance|cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(17)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|urinary_tract(1)	44				KIRC - Kidney renal clear cell carcinoma(284;0.165)|Kidney(284;0.197)		TGGGTGCTCCAGGGTCATTTT	0.488													G	37544692	A	G	37544692	2	3	364	1	0	0	0	0	0	0	0	1	7941	175	7	3		3	ITGA9	3	37544692	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	85760	37544692	160477738	2828	26330											
CTDSPL	10217	broad.mit.edu	37	chr3	38022346	38022346	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagcatgctgcacagactCtgcaataggtagccctggcc	10	8	10	13	0	1	1	0	0	1	1	1	1	1	1	2	2	6	5	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38022346C>A	ENST00000443503.2	+	7	1026	c.786C>A	c.(784-786)ctC>ctA	p.L262L	CTDSPL_ENST00000310189.3_3'UTR|CTDSPL_ENST00000273179.5_Silent_p.L273L	NM_005808.2	NP_005799.2	O15194	CTDSL_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase-like	273						nucleus	metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|large_intestine(4)|skin(1)	8		Melanoma(1037;0.0122)		KIRC - Kidney renal clear cell carcinoma(284;0.0729)|Kidney(284;0.0902)		TGCACAGACTCTGCAATAGGT	0.622													A	38022346	C	A	38022346	2	1	364	1	0	0	0	0	0	0	0	1	4038	900	32	4		4	CTDSPL	3	38022346	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	477654	38022346	160000084	2829	26331											
VILL	50853	broad.mit.edu	37	chr3	38042993	38042993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccgtggaccccaagcGtcatggacagctgtgtgcag	8	6	14	13	2	1	0	1	0	0	0	1	2	1	2	3	2	4	3	3	2	1	0	rs35351971	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38042993G>A	ENST00000283713.6	+	12	1495	c.1229G>A	c.(1228-1230)cGt>cAt	p.R410H	VILL_ENST00000383759.2_Missense_Mutation_p.R410H|VILL_ENST00000465644.1_Missense_Mutation_p.R128H			O15195	VILL_HUMAN	villin-like	410					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		GACCCCAAGCGTCATGGACAG	0.587													A	38042993	G	A	38042993	3	1	364	1	0	0	0	0	1	0	0	0	17267	1145	40	1	1271	1	VILL	3	38042993	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20647	38042993	159979437	2830	26332											
VILL	50853	broad.mit.edu	37	chr3	38047959	38047959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagtcaacaacttgcggcTatccagatggccgggcaatg	11	7	13	10	2	1	1	1	0	0	1	2	2	2	2	2	4	3	2	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38047959T>C	ENST00000283713.6	+	19	2491	c.2225T>C	c.(2224-2226)cTa>cCa	p.L742P	VILL_ENST00000383759.2_Missense_Mutation_p.L742P|VILL_ENST00000465644.1_Missense_Mutation_p.L460P			O15195	VILL_HUMAN	villin-like	742					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		AACTTGCGGCTATCCAGATGG	0.622													C	38047959	T	C	38047959	3	2	364	1	0	0	0	0	1	0	0	0	17267	1522	53	3	2295	3	VILL	3	38047959	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4966	38047959	159974471	2831	26333											
PLCD1	5333	broad.mit.edu	37	chr3	38049554	38049554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggccaatgaagtcattCttggaggaggcatcataatc	11	11	10	9	0	4	1	2	1	2	0	5	3	4	3	1	4	0	1	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049554C>A	ENST00000463876.1	-	14	2552	c.2199G>T	c.(2197-2199)aaG>aaT	p.K733N	PLCD1_ENST00000334661.4_Missense_Mutation_p.K712N	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	712					intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGAAGTCATTCTTGGAGGAGG	0.542													A	38049554	C	A	38049554	3	1	364	1	0	0	0	0	1	0	0	0	12108	912	32	4	142	4	PLCD1	3	38049554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1595	38049554	159972876	2832	26334											
PLCD1	5333	broad.mit.edu	37	chr3	38049632	38049632	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacctcaaacgcaaactcCgtgtcccaccatgggttgaa	12	8	7	14	2	1	1	1	1	0	0	3	1	3	1	4	1	3	2	4	1	4	2	rs148090621		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38049632C>T	ENST00000463876.1	-	14	2474	c.2121G>A	c.(2119-2121)acG>acA	p.T707T	PLCD1_ENST00000334661.4_Silent_p.T686T	NM_001130964.1	NP_001124436.1	P51178	PLCD1_HUMAN	phospholipase C, delta 1	686	C2.				intracellular signal transduction|lipid catabolic process|phospholipid metabolic process	cytoplasm	calcium ion binding|GTPase activating protein binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		ACGCAAACTCCGTGTCCCACC	0.542													T	38049632	C	T	38049632	2	4	364	1	0	0	0	0	0	0	0	1	12108	639	23	1		1	PLCD1	3	38049632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	38049632	159972798	2833	26335											
DLEC1	9940	broad.mit.edu	37	chr3	38105394	38105394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttttcacagattatgaaaTtggtccagtttatgaggtag	11	16	10	4	0	1	3	1	2	0	1	2	3	2	3	1	2	0	3	1	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38105394T>C	ENST00000308059.6	+	6	1178	c.1157T>C	c.(1156-1158)aTt>aCt	p.I386T	DLEC1_ENST00000452631.2_Missense_Mutation_p.I386T|DLEC1_ENST00000346219.3_Missense_Mutation_p.I386T|DLEC1_ENST00000469151.1_3'UTR			Q9Y238	DLEC1_HUMAN	deleted in lung and esophageal cancer 1	386					negative regulation of cell proliferation	cytoplasm				NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(3)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	51				KIRC - Kidney renal clear cell carcinoma(284;0.0664)|Kidney(284;0.0827)		GATTATGAAATTGGTCCAGTT	0.368													C	38105394	T	C	38105394	3	2	364	1	0	0	0	0	1	0	0	0	4591	1493	52	3	1179	3	DLEC1	3	38105394	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55762	38105394	159917036	2834	26336											
ACAA1	30	broad.mit.edu	37	chr3	38164583	38164583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagcggctcccattccagtCccgatgcacatggacaccac	9	6	9	17	2	0	0	0	0	0	0	3	2	3	1	4	2	2	3	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38164583C>T	ENST00000333167.8	-	12	1402	c.1230G>A	c.(1228-1230)ggG>ggA	p.G410G	ACAA1_ENST00000301810.7_Silent_p.G317G|ACAA1_ENST00000480865.1_5'UTR|DLEC1_ENST00000308059.6_3'UTR|ACAA1_ENST00000450296.1_Silent_p.G369G	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	410					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		CCATTCCAGTCCCGATGCACA	0.567													T	38164583	C	T	38164583	2	4	364	1	0	0	0	0	0	0	0	1	104	842	30	2		2	ACAA1	3	38164583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59189	38164583	159857847	2835	26337											
ACAA1	30	broad.mit.edu	37	chr3	38175457	38175457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttacctcagaaactgggcGattcgggccatgattgcccc	8	10	11	12	2	1	2	1	1	0	1	2	3	1	2	4	2	3	1	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38175457G>A	ENST00000333167.8	-	3	481	c.309C>T	c.(307-309)atC>atT	p.I103I	ACAA1_ENST00000301810.7_Silent_p.I103I|ACAA1_ENST00000544624.1_5'UTR|ACAA1_ENST00000444607.2_Silent_p.I103I|ACAA1_ENST00000450296.1_Silent_p.I103I	NM_001607.3	NP_001598.1	P09110	THIK_HUMAN	acetyl-CoA acyltransferase 1	103					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy	peroxisomal matrix	acetyl-CoA C-acyltransferase activity|protein binding	p.I103I(1)		endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	9				KIRC - Kidney renal clear cell carcinoma(284;0.0523)|Kidney(284;0.0657)		GAAACTGGGCGATTCGGGCCA	0.537													A	38175457	G	A	38175457	2	1	364	1	0	0	0	0	0	0	0	1	104	1048	37	1		1	ACAA1	3	38175457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10874	38175457	159846973	2836	26338											
SLC22A13	9390	broad.mit.edu	37	chr3	38307385	38307385	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcctggctgaaataGgtgactttggtcgcttccag	7	12	12	10	1	0	2	0	2	0	0	4	2	3	2	3	4	0	2	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38307385G>T	ENST00000311856.4	+	1	83	c.34G>T	c.(34-36)Ggt>Tgt	p.G12C		NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	12						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCTGAAATAGGTGACTTTGG	0.502													T	38307385	G	T	38307385	3	4	364	1	0	0	0	0	1	0	0	0	14538	1000	35	4	36	4	SLC22A13	3	38307385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131928	38307385	159715045	2837	26339											
SLC22A14	9389	broad.mit.edu	37	chr3	38347805	38347805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcacagcccagaagccCtattgcaataccagctggat	11	9	9	12	0	1	1	1	0	0	1	1	2	1	2	3	1	5	3	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38347805C>A	ENST00000273173.4	+	1	379	c.288C>A	c.(286-288)ccC>ccA	p.P96P	SLC22A14_ENST00000448498.1_Silent_p.P96P	NM_004803.3	NP_004794.2	Q9Y267	S22AE_HUMAN	solute carrier family 22, member 14	96						integral to plasma membrane	organic cation transmembrane transporter activity			central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0554)|Kidney(284;0.0696)		CCCAGAAGCCCTATTGCAATA	0.547													A	38347805	C	A	38347805	2	1	364	1	0	0	0	0	0	0	0	1	14539	668	24	4		4	SLC22A14	3	38347805	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40420	38347805	159674625	2838	26340											
EXOG	9941	broad.mit.edu	37	chr3	38537902	38537902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctccggggttcccgtcGttttctgagcggcttcgtgg	1	12	14	14	6	1	1	0	1	1	0	5	1	3	1	4	4	1	3	4	4	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38537902G>A	ENST00000287675.5	+	1	140	c.44G>A	c.(43-45)cGt>cAt	p.R15H	EXOG_ENST00000422077.2_Missense_Mutation_p.R15H|EXOG_ENST00000358249.2_5'UTR	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	15						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGTTCCCGTCGTTTTCTGAGC	0.682											OREG0015479	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	38537902	G	A	38537902	3	1	364	1	0	0	0	0	1	0	0	0	5353	1145	40	1	46	1	EXOG	3	38537902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190097	38537902	159484528	2839	26341											
SCN5A	6331	broad.mit.edu	37	chr3	38618220	38618220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctgctccaggagctcaGcggtgttggtcatgtctgct	5	12	14	10	1	4	0	2	0	2	0	5	2	5	2	1	4	4	4	1	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38618220G>A	ENST00000413689.1	-	19	3636	c.3443C>T	c.(3442-3444)gCt>gTt	p.A1148V	SCN5A_ENST00000423572.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000443581.1_Missense_Mutation_p.A1147V|SCN5A_ENST00000450102.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000333535.4_Missense_Mutation_p.A1148V|SCN5A_ENST00000455624.2_Missense_Mutation_p.A1147V|SCN5A_ENST00000425664.1_Missense_Mutation_p.A1148V|SCN5A_ENST00000451551.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000449557.2_Missense_Mutation_p.A1094V|SCN5A_ENST00000414099.2_Missense_Mutation_p.A1148V	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1148					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CAGGAGCTCAGCGGTGTTGGT	0.622													A	38618220	G	A	38618220	3	1	364	1	0	0	0	0	1	0	0	0	14015	971	34	2	2647	2	SCN5A	3	38618220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80318	38618220	159404210	2840	26342											
SCN5A	6331	broad.mit.edu	37	chr3	38662422	38662422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctcgagccagaatctTgaccagagactcaaaggtgt	13	7	11	10	1	2	3	1	1	1	2	3	6	2	3	3	1	2	0	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38662422T>C	ENST00000413689.1	-	5	716	c.523A>G	c.(523-525)Aag>Gag	p.K175E	SCN5A_ENST00000423572.2_Missense_Mutation_p.K175E|SCN5A_ENST00000443581.1_Missense_Mutation_p.K175E|SCN5A_ENST00000450102.2_Missense_Mutation_p.K175E|SCN5A_ENST00000333535.4_Missense_Mutation_p.K175E|SCN5A_ENST00000455624.2_Missense_Mutation_p.K175E|SCN5A_ENST00000425664.1_Missense_Mutation_p.K175E|SCN5A_ENST00000451551.2_Missense_Mutation_p.K175E|SCN5A_ENST00000449557.2_Missense_Mutation_p.K175E|SCN5A_ENST00000414099.2_Missense_Mutation_p.K175E	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	175					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCAGAATCTTGACCAGAGAC	0.552													C	38662422	T	C	38662422	3	2	364	1	0	0	0	0	1	0	0	0	14015	1821	63	3	5719	3	SCN5A	3	38662422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44202	38662422	159360008	2841	26343											
SCN10A	6336	broad.mit.edu	37	chr3	38739556	38739556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagttctccagaatcactgCaatgtacatgttgaccatga	13	11	8	9	0	2	3	1	2	1	1	3	4	2	3	2	0	2	4	2	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739556C>T	ENST00000449082.2	-	27	5154	c.5155G>A	c.(5155-5157)Gca>Aca	p.A1719T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1719					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGAATCACTGCAATGTACATG	0.512													T	38739556	C	T	38739556	3	4	364	1	0	0	0	0	1	0	0	0	14005	710	25	2	719	2	SCN10A	3	38739556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77134	38739556	159282874	2842	26344											
SCN10A	6336	broad.mit.edu	37	chr3	38739839	38739839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggaaagctggacataccGaagatagagtagatgaacat	16	7	13	5	1	0	4	0	1	0	3	0	7	0	6	1	3	3	2	1	3	6	3	rs149642957	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739839G>A	ENST00000449082.2	-	27	4871	c.4872C>T	c.(4870-4872)ttC>ttT	p.F1624F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1624					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGACATACCGAAGATAGAGT	0.527													A	38739839	G	A	38739839	2	1	364	1	0	0	0	0	0	0	0	1	14005	1049	37	1		1	SCN10A	3	38739839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283	38739839	159282591	2843	26345											
SCN10A	6336	broad.mit.edu	37	chr3	38739966	38739966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcggatcagtctgaggatgCggccaattcgggccaggcgg	7	7	16	11	4	2	1	1	1	1	0	4	3	2	3	2	6	1	0	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38739966C>T	ENST00000449082.2	-	27	4744	c.4745G>A	c.(4744-4746)cGc>cAc	p.R1582H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1582					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCTGAGGATGCGGCCAATTCG	0.522													T	38739966	C	T	38739966	3	4	364	1	0	0	0	0	1	0	0	0	14005	768	27	1	1129	1	SCN10A	3	38739966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	38739966	159282464	2844	26346											
SCN10A	6336	broad.mit.edu	37	chr3	38763774	38763774	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccactgctgagcaggatcAtgaagatgatgaagctctca	13	9	10	9	0	2	5	2	4	1	1	4	6	3	6	1	1	3	3	1	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38763774A>G	ENST00000449082.2	-	19	3481	c.3482T>C	c.(3481-3483)aTg>aCg	p.M1161T		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1161					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	GAGCAGGATCATGAAGATGAT	0.547													G	38763774	A	G	38763774	3	3	364	1	0	0	0	0	1	0	0	0	14005	217	8	3	2424	3	SCN10A	3	38763774	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23808	38763774	159258656	2845	26347											
SCN10A	6336	broad.mit.edu	37	chr3	38766687	38766687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcagggacctgaggaacaGactcatctttccacgtctca	11	8	9	13	1	3	2	2	1	2	1	5	4	4	4	2	2	2	1	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38766687G>A	ENST00000449082.2	-	17	3205	c.3206C>T	c.(3205-3207)tCt>tTt	p.S1069F		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1069					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTGAGGAACAGACTCATCTTT	0.602													A	38766687	G	A	38766687	3	1	364	1	0	0	0	0	1	0	0	0	14005	942	33	2	2708	2	SCN10A	3	38766687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2913	38766687	159255743	2846	26348											
SCN10A	6336	broad.mit.edu	37	chr3	38781028	38781028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggaagctccgcagcacaGacaggcttcccttcttggcc	8	7	11	15	2	1	1	0	0	1	1	3	2	3	2	3	3	3	4	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38781028G>T	ENST00000449082.2	-	14	2257	c.2258C>A	c.(2257-2259)tCt>tAt	p.S753Y		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	753					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CCGCAGCACAGACAGGCTTCC	0.512													T	38781028	G	T	38781028	3	4	364	1	0	0	0	0	1	0	0	0	14005	942	33	4	3668	4	SCN10A	3	38781028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14341	38781028	159241402	2847	26349											
SCN10A	6336	broad.mit.edu	37	chr3	38793748	38793748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggggcaagctcactagtggGcggcggttggtgttcatctt	6	11	16	8	2	3	0	2	0	1	0	3	0	3	0	0	6	1	4	0	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38793748G>A	ENST00000449082.2	-	11	1716	c.1717C>T	c.(1717-1719)Ccc>Tcc	p.P573S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	573					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TCACTAGTGGGCGGCGGTTGG	0.597													A	38793748	G	A	38793748	3	1	364	1	0	0	0	0	1	0	0	0	14005	1203	42	2	4221	2	SCN10A	3	38793748	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12720	38793748	159228682	2848	26350											
SCN10A	6336	broad.mit.edu	37	chr3	38835327	38835327	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggcagctggttgcaggCtttcaagtccagctggggcc	5	10	15	11	0	1	0	1	0	0	0	2	0	2	0	2	5	3	6	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38835327C>A	ENST00000449082.2	-	1	174	c.175G>T	c.(175-177)Gcc>Tcc	p.A59S		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	59					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGGTTGCAGGCTTTCAAGTCC	0.552													A	38835327	C	A	38835327	3	1	364	1	0	0	0	0	1	0	0	0	14005	797	28	4	5803	4	SCN10A	3	38835327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41579	38835327	159187103	2849	26351											
SCN11A	11280	broad.mit.edu	37	chr3	38908884	38908884	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgaagaatgagccaaaGatgataaagactacgaagta	20	6	11	4	1	0	7	0	3	0	4	0	8	0	7	1	0	2	1	1	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38908884G>T	ENST00000302328.3	-	23	4077	c.3879C>A	c.(3877-3879)atC>atA	p.I1293I	SCN11A_ENST00000456224.3_Silent_p.I1255I|SCN11A_ENST00000444237.2_Silent_p.I1293I|SCN11A_ENST00000450244.1_Silent_p.I1293I	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1293					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGAGCCAAAGATGATAAAGA	0.343													T	38908884	G	T	38908884	2	4	364	1	0	0	0	0	0	0	0	1	14006	932	33	4		4	SCN11A	3	38908884	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73557	38908884	159113546	2850	26352											
SCN11A	11280	broad.mit.edu	37	chr3	38938518	38938518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgtaaacatgagactgtcgGgcctgtcgggttacagagtt	9	10	13	9	3	0	2	0	1	0	2	2	3	0	2	2	2	2	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:38938518G>A	ENST00000302328.3	-	14	2419	c.2221C>T	c.(2221-2223)Ccg>Tcg	p.P741S	SCN11A_ENST00000456224.3_Missense_Mutation_p.P741S|SCN11A_ENST00000444237.2_Missense_Mutation_p.P741S|SCN11A_ENST00000450244.1_Missense_Mutation_p.P741S	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	741					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GAGACTGTCGGGCCTGTCGGG	0.488													A	38938518	G	A	38938518	3	1	364	1	0	0	0	0	1	0	0	0	14006	1232	43	2	3206	2	SCN11A	3	38938518	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29634	38938518	159083912	2851	26353											
GORASP1	64689	broad.mit.edu	37	chr3	39142345	39142345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttcccctcatgagactcGatgagcgtaaagaagtcctc	10	9	10	12	2	1	3	1	2	0	2	5	5	3	3	3	1	1	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39142345G>A	ENST00000319283.3	-	5	1280	c.459C>T	c.(457-459)atC>atT	p.I153I	GORASP1_ENST00000422110.2_Intron|GORASP1_ENST00000479927.1_Silent_p.I58I	NM_031899.2	NP_114105.1	Q9BQQ3	GORS1_HUMAN	golgi reassembly stacking protein 1, 65kDa	153					mitotic prophase|protein transport	cytosol|Golgi apparatus|membrane				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(1)|ovary(3)|urinary_tract(1)	14				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		CATGAGACTCGATGAGCGTAA	0.542											OREG0015486	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39142345	G	A	39142345	2	1	364	1	0	0	0	0	0	0	0	1	6628	1048	37	1		1	GORASP1	3	39142345	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203827	39142345	158880085	2852	26354											
XIRP1	165904	broad.mit.edu	37	chr3	39226380	39226380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgctccactgaggcCtcgggcttttggtgggcagc	5	9	15	12	1	0	1	0	1	0	0	2	1	1	1	3	5	2	3	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39226380C>A	ENST00000340369.3	-	2	4785	c.4557G>T	c.(4555-4557)gaG>gaT	p.E1519D	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Missense_Mutation_p.E202D	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1519							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCACTGAGGCCTCGGGCTTTT	0.632													A	39226380	C	A	39226380	3	1	364	1	0	0	0	0	1	0	0	0	17531	680	24	4	978	4	XIRP1	3	39226380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84035	39226380	158796050	2853	26355											
XIRP1	165904	broad.mit.edu	37	chr3	39227239	39227239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaggccagaatgtggCggcctagaggggcagtcttc	8	6	16	11	1	1	3	0	0	1	3	2	3	1	3	3	5	0	1	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227239C>T	ENST00000340369.3	-	2	3926	c.3698G>A	c.(3697-3699)cGc>cAc	p.R1233H	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1233							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CAGAATGTGGCGGCCTAGAGG	0.642													T	39227239	C	T	39227239	3	4	364	1	0	0	0	0	1	0	0	0	17531	768	27	1	1837	1	XIRP1	3	39227239	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	859	39227239	158795191	2854	26356											
XIRP1	165904	broad.mit.edu	37	chr3	39227602	39227602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggggctgctgggatcCggggatcacttccaccccca	5	9	13	14	1	2	0	1	0	1	0	4	2	4	2	4	5	1	2	4	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39227602C>T	ENST00000340369.3	-	2	3563	c.3335G>A	c.(3334-3336)cGg>cAg	p.R1112Q	XIRP1_ENST00000396251.1_Missense_Mutation_p.R1112Q|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1112							actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		TGCTGGGATCCGGGGATCACT	0.612													T	39227602	C	T	39227602	3	4	364	1	0	0	0	0	1	0	0	0	17531	652	23	1	2200	1	XIRP1	3	39227602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	363	39227602	158794828	2855	26357											
XIRP1	165904	broad.mit.edu	37	chr3	39229155	39229155	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caagtctcgaacaaccaccgGatggtctgcacatcgccctt	10	8	8	15	3	2	0	0	0	2	0	4	2	2	1	3	2	3	1	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39229155G>T	ENST00000340369.3	-	2	2010	c.1782C>A	c.(1780-1782)atC>atA	p.I594I	XIRP1_ENST00000396251.1_Silent_p.I594I|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	594	Interaction with CTNNB1 (By similarity).						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		ACAACCACCGGATGGTCTGCA	0.587													T	39229155	G	T	39229155	2	4	364	1	0	0	0	0	0	0	0	1	17531	1164	41	4		4	XIRP1	3	39229155	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1553	39229155	158793275	2856	26358											
CX3CR1	1524	broad.mit.edu	37	chr3	39306959	39306959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcaatgcatctccatCactcgtgtggtaagtaaaat	14	10	9	8	1	2	0	1	0	1	0	4	1	2	1	1	2	2	4	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:39306959C>A	ENST00000541347.1	-	2	1281	c.1042G>T	c.(1042-1044)Gat>Tat	p.D348Y	CX3CR1_ENST00000399220.2_Missense_Mutation_p.D348Y|CX3CR1_ENST00000358309.3_Missense_Mutation_p.D380Y|CX3CR1_ENST00000542107.1_Missense_Mutation_p.D348Y	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	348					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		GCATCTCCATCACTCGTGTGG	0.483													A	39306959	C	A	39306959	3	1	364	1	0	0	0	0	1	0	0	0	4108	826	29	4	29	4	CX3CR1	3	39306959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77804	39306959	158715471	2857	26359											
MYRIP	25924	broad.mit.edu	37	chr3	40192659	40192659	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggctggagagtggcgcGtgcttcgacattctaggtac	7	9	14	11	4	1	1	0	0	1	1	2	3	1	1	1	4	2	3	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40192659G>A	ENST00000302541.6	+	4	795	c.453G>A	c.(451-453)gcG>gcA	p.A151A	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000444716.1_Silent_p.A151A|MYRIP_ENST00000425621.1_Silent_p.A151A|MYRIP_ENST00000396217.3_Intron|MYRIP_ENST00000539167.1_5'UTR	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	151	Myosin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		AGAGTGGCGCGTGCTTCGACA	0.562													A	40192659	G	A	40192659	2	1	364	1	0	0	0	0	0	0	0	1	10176	1132	40	1		1	MYRIP	3	40192659	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	885700	40192659	157829771	2858	26360											
ENTPD3	956	broad.mit.edu	37	chr3	40457483	40457483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtgtccctgtatggctaCgtatacacgctctacacaca	10	10	8	13	2	1	0	0	0	1	0	2	0	2	0	1	2	3	4	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40457483C>T	ENST00000301825.3	+	7	868	c.750C>T	c.(748-750)taC>taT	p.Y250Y	ENTPD3_ENST00000456402.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.Y250Y|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3-AS1_ENST00000425156.1_RNA	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	250						integral to membrane	ATP binding|hydrolase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGTATGGCTACGTATACACGC	0.537													T	40457483	C	T	40457483	2	4	364	1	0	0	0	0	0	0	0	1	5181	547	19	1		1	ENTPD3	3	40457483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264824	40457483	157564947	2859	26361											
ZNF621	285268	broad.mit.edu	37	chr3	40574286	40574286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcatcagaaattgcaccCtgtggagaagaagccagtca	14	7	10	10	0	3	3	3	0	0	3	3	4	3	3	2	1	3	2	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:40574286C>A	ENST00000339296.5	+	5	1477	c.1025C>A	c.(1024-1026)cCt>cAt	p.P342H	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000431278.1_Missense_Mutation_p.P231H|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.P342H	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	342					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		AAATTGCACCCTGTGGAGAAG	0.507													A	40574286	C	A	40574286	3	1	364	1	0	0	0	0	1	0	0	0	18146	681	24	4	1039	4	ZNF621	3	40574286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116803	40574286	157448144	2860	26362											
CCK	885	broad.mit.edu	37	chr3	42305084	42305084	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcagggcgccagccgccagTaccgccatcagcacgcacag	9	3	12	17	4	2	0	2	0	0	0	2	0	2	0	5	1	3	3	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42305084T>C	ENST00000396169.2	-	4	944	c.39A>G	c.(37-39)gtA>gtG	p.V13V	CCK_ENST00000334681.5_Silent_p.V13V|CCK_ENST00000434608.1_Silent_p.V13V	NM_000729.4	NP_000720.1	P06307	CCKN_HUMAN	cholecystokinin	13					axonogenesis|eating behavior|neuron migration		neuropeptide hormone activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6		Ovarian(412;0.0728)		KIRC - Kidney renal clear cell carcinoma(284;0.219)		CAGCCGCCAGTACCGCCATCA	0.687													C	42305084	T	C	42305084	2	2	364	1	0	0	0	0	0	0	0	1	2907	1625	57	3		3	CCK	3	42305084	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1730798	42305084	155717346	2861	26363											
VIPR1	7433	broad.mit.edu	37	chr3	42577643	42577643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagggcgtcctgggctggaAccccaaataccggcacccgt	8	5	13	15	3	0	0	0	0	0	0	1	1	1	1	5	4	2	3	5	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42577643A>G	ENST00000433647.1	+	14	1745	c.1121A>G	c.(1120-1122)aAc>aGc	p.N374S	VIPR1_ENST00000543411.1_Missense_Mutation_p.N367S|VIPR1_ENST00000438259.2_Missense_Mutation_p.N205S|VIPR1_ENST00000325123.4_Missense_Mutation_p.N415S	NM_001251882.1	NP_001238811.1	P32241	VIPR1_HUMAN	vasoactive intestinal peptide receptor 1	415					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|muscle contraction|positive regulation of cell proliferation|synaptic transmission	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|ovary(2)|skin(1)|urinary_tract(3)	18				KIRC - Kidney renal clear cell carcinoma(284;0.241)		CTGGGCTGGAACCCCAAATAC	0.701													G	42577643	A	G	42577643	3	3	364	1	0	0	0	0	1	0	0	0	17271	43	2	3	1294	3	VIPR1	3	42577643	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	272559	42577643	155444787	2862	26364											
NKTR	4820	broad.mit.edu	37	chr3	42674295	42674295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaagagccaaggaataaAcatgcaatgaacccaaaagg	20	4	9	8	0	1	3	1	1	0	2	1	4	1	4	2	2	4	1	2	2	9	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42674295A>G	ENST00000232978.8	+	9	941	c.753A>G	c.(751-753)aaA>aaG	p.K251K	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	251					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGAATAAACATGCAATGA	0.383													G	42674295	A	G	42674295	2	3	364	1	0	0	0	0	0	0	0	1	10524	40	2	3		3	NKTR	3	42674295	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96652	42674295	155348135	2863	26365											
NKTR	4820	broad.mit.edu	37	chr3	42678574	42678574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaagaagagaaggattCttataccgtctgacatagaa	19	8	8	6	1	2	4	0	1	2	3	2	6	2	5	1	1	2	0	1	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678574C>A	ENST00000232978.8	+	13	1566	c.1378C>A	c.(1378-1380)Ctt>Att	p.L460I	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	460					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		GAGAAGGATTCTTATACCGTC	0.363													A	42678574	C	A	42678574	3	1	364	1	0	0	0	0	1	0	0	0	10524	913	32	4	1424	4	NKTR	3	42678574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4279	42678574	155343856	2864	26366											
NKTR	4820	broad.mit.edu	37	chr3	42678608	42678608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catagaatcctcaaaatcttCcactcgaagaatgaaatcct	16	10	4	11	1	2	3	1	1	1	2	6	4	5	3	3	0	0	0	3	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42678608C>T	ENST00000232978.8	+	13	1600	c.1412C>T	c.(1411-1413)tCc>tTc	p.S471F	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	471	Arg/Ser-rich.				protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		TCAAAATCTTCCACTCGAAGA	0.378													T	42678608	C	T	42678608	3	4	364	1	0	0	0	0	1	0	0	0	10524	855	30	2	1458	2	NKTR	3	42678608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	42678608	155343822	2865	26367											
NKTR	4820	broad.mit.edu	37	chr3	42680894	42680894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaagcccctgcaaggtgtggGgaacctggcagcacctaatg	10	6	14	11	0	0	0	0	0	0	0	0	2	0	1	4	4	4	3	4	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42680894G>A	ENST00000232978.8	+	13	3886	c.3698G>A	c.(3697-3699)gGg>gAg	p.G1233E	RP4-613B23.1_ENST00000438017.1_RNA|RP4-613B23.1_ENST00000445452.1_RNA|RP4-613B23.1_ENST00000434363.1_RNA	NM_005385.3	NP_005376.2	P30414	NKTR_HUMAN	natural killer-tumor recognition sequence	1233					protein folding	membrane	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	41				KIRC - Kidney renal clear cell carcinoma(284;0.24)		CAAGGTGTGGGGAACCTGGCA	0.498													A	42680894	G	A	42680894	3	1	364	1	0	0	0	0	1	0	0	0	10524	1232	43	2	3744	2	NKTR	3	42680894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2286	42680894	155341536	2866	26368											
ZBTB47	92999	broad.mit.edu	37	chr3	42701050	42701050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagctgggcggcggggtggGaagaggccaaagccaccccc	9	2	18	12	2	0	1	0	0	0	1	0	3	0	2	4	6	2	1	4	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42701050G>A	ENST00000457842.3	+	2	1484	c.75G>A	c.(73-75)ggG>ggA	p.G25G	ZBTB47_ENST00000505904.1_Intron|ZBTB47_ENST00000232974.6_Silent_p.G401G	NM_145166.3	NP_660149.2	Q9UFB7	ZBT47_HUMAN	zinc finger and BTB domain containing 47	25					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(2)|lung(3)|ovary(1)	13				KIRC - Kidney renal clear cell carcinoma(284;0.216)		GGCGGGGTGGGAAGAGGCCAA	0.706													A	42701050	G	A	42701050	2	1	364	1	0	0	0	0	0	0	0	1	17649	1161	41	2		2	ZBTB47	3	42701050	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20156	42701050	155321380	2867	26369											
CCDC13	152206	broad.mit.edu	37	chr3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcaccacggtgcggtgtCgctcctcctgcagcttcctc	4	9	10	18	3	0	0	0	0	0	0	5	0	3	0	5	2	4	4	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42754752C>T	ENST00000310232.6	-	14	1858	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602													T	42754752	C	T	42754752	3	4	364	1	0	0	0	0	1	0	0	0	2791	884	31	1	384	1	CCDC13	3	42754752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53702	42754752	155267678	2868	26370											
CCDC13	152206	broad.mit.edu	37	chr3	42772013	42772013	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacgctccacctcggcaGcctgccagagggccttgatc	6	7	12	16	2	1	2	1	1	0	1	4	2	2	2	5	3	2	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42772013G>T	ENST00000310232.6	-	13	1747	c.1664C>A	c.(1663-1665)gCt>gAt	p.A555D		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	555										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						CACCTCGGCAGCCTGCCAGAG	0.607													T	42772013	G	T	42772013	3	4	364	1	0	0	0	0	1	0	0	0	2791	971	34	4	499	4	CCDC13	3	42772013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17261	42772013	155250417	2869	26371											
ZNF662	389114	broad.mit.edu	37	chr3	42954792	42954792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccaagcctgatttgtcCgggtaagtgagagggaaatg	10	9	16	6	1	0	2	0	2	0	1	2	4	2	3	3	3	1	1	3	3	3	2	rs77247576	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42954792C>T	ENST00000541208.1	+	4	620	c.251C>T	c.(250-252)cCg>cTg	p.P84L	ZNF662_ENST00000440367.2_Missense_Mutation_p.P84L|ZNF662_ENST00000328199.6_Intron|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000430067.2_3'UTR			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CTGATTTGTCCGGGTAAGTGA	0.423													T	42954792	C	T	42954792	3	4	364	1	0	0	0	0	1	0	0	0	18172	652	23	1	448	1	ZNF662	3	42954792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182779	42954792	155067638	2870	26372											
ZNF662	389114	broad.mit.edu	37	chr3	42955844	42955844	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgttgaagaggaagaaagaAgattttattctgaaggagga	16	10	14	1	0	1	6	0	2	1	4	1	9	1	9	0	3	0	1	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42955844A>C	ENST00000541208.1	+	5	648	c.279A>C	c.(277-279)gaA>gaC	p.E93D	ZNF662_ENST00000440367.2_Missense_Mutation_p.E93D|ZNF662_ENST00000328199.6_Missense_Mutation_p.E119D|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		GGAAGAAAGAAGATTTTATTC	0.423													C	42955844	A	C	42955844	3	2	364	1	0	0	0	0	1	0	0	0	18172	69	3	5	480	5	ZNF662	3	42955844	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1052	42955844	155066586	2871	26373											
ZNF662	389114	broad.mit.edu	37	chr3	42956626	42956626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagcaccagagggtccAcactggggacaagcctcatg	10	7	11	13	0	2	1	2	0	1	1	4	2	3	2	3	3	2	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956626A>G	ENST00000541208.1	+	5	1430	c.1061A>G	c.(1060-1062)cAc>cGc	p.H354R	ZNF662_ENST00000440367.2_Missense_Mutation_p.H354R|ZNF662_ENST00000328199.6_Missense_Mutation_p.H380R|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		CAGAGGGTCCACACTGGGGAC	0.488													G	42956626	A	G	42956626	3	3	364	1	0	0	0	0	1	0	0	0	18172	159	6	3	1262	3	ZNF662	3	42956626	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	782	42956626	155065804	2872	26374											
ZNF662	389114	broad.mit.edu	37	chr3	42956680	42956680	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggaaaagcttcttttgcaAggcacatcttattcgacatc	11	13	8	9	1	2	0	0	0	2	0	4	2	2	1	0	2	2	3	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:42956680A>C	ENST00000541208.1	+	5	1484	c.1115A>C	c.(1114-1116)aAg>aCg	p.K372T	ZNF662_ENST00000440367.2_Missense_Mutation_p.K372T|ZNF662_ENST00000328199.6_Missense_Mutation_p.K398T|ZNF662_ENST00000422021.1_Intron|KRBOX1_ENST00000426937.1_Intron			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TTCTTTTGCAAGGCACATCTT	0.443													C	42956680	A	C	42956680	3	2	364	1	0	0	0	0	1	0	0	0	18172	72	3	5	1316	5	ZNF662	3	42956680	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54	42956680	155065750	2873	26375											
SNRK	54861	broad.mit.edu	37	chr3	43389157	43389157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacacaagtggttttgcgccGgaagccatctgtaaccaacc	12	8	9	12	2	1	0	0	0	1	0	1	1	1	1	4	2	5	2	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389157G>A	ENST00000296088.7	+	7	1710	c.1406G>A	c.(1405-1407)cGg>cAg	p.R469Q	SNRK_ENST00000429705.2_Missense_Mutation_p.R469Q|SNRK_ENST00000454177.1_Missense_Mutation_p.R469Q|SNRK_ENST00000437827.1_Missense_Mutation_p.R263Q	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	469					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GTTTTGCGCCGGAAGCCATCT	0.527													A	43389157	G	A	43389157	3	1	364	1	0	0	0	0	1	0	0	0	14945	1116	39	1	1424	1	SNRK	3	43389157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432477	43389157	154633273	2874	26376											
SNRK	54861	broad.mit.edu	37	chr3	43389476	43389476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgaggggccccctggCagtgagggggatggcggggg	6	3	23	9	2	0	1	0	1	0	0	0	3	0	2	2	8	2	2	2	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:43389476C>T	ENST00000296088.7	+	7	2029	c.1725C>T	c.(1723-1725)ggC>ggT	p.G575G	SNRK_ENST00000429705.2_Silent_p.G575G|SNRK_ENST00000454177.1_Silent_p.G575G|SNRK_ENST00000437827.1_Silent_p.G369G	NM_017719.4	NP_060189.3	Q9NRH2	SNRK_HUMAN	SNF related kinase	575					myeloid cell differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(5)|prostate(1)|skin(2)|stomach(1)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0636)|Kidney(284;0.0792)		GGCCCCCTGGCAGTGAGGGGG	0.632													T	43389476	C	T	43389476	2	4	364	1	0	0	0	0	0	0	0	1	14945	697	25	2		2	SNRK	3	43389476	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319	43389476	154632954	2875	26377											
ZNF445	353274	broad.mit.edu	37	chr3	44488739	44488739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagagtgaatcctctgAtgtcggtagagattggaact	12	11	13	5	1	1	5	0	3	1	2	3	8	2	6	1	2	1	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44488739A>G	ENST00000425708.2	-	7	2765	c.2424T>C	c.(2422-2424)caT>caC	p.H808H	ZNF445_ENST00000396077.2_Silent_p.H808H			P59923	ZN445_HUMAN	zinc finger protein 445	808					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		GAATCCTCTGATGTCGGTAGA	0.443													G	44488739	A	G	44488739	2	3	364	1	0	0	0	0	0	0	0	1	18019	330	12	3		3	ZNF445	3	44488739	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1099263	44488739	153533691	2876	26378											
ZNF445	353274	broad.mit.edu	37	chr3	44489264	44489264	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtttgatctccatctaaaGgttttcctacatttggtaca	11	16	6	8	0	2	1	0	1	2	0	4	1	3	1	2	2	2	3	2	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44489264G>T	ENST00000425708.2	-	7	2240	c.1899C>A	c.(1897-1899)acC>acA	p.T633T	ZNF445_ENST00000396077.2_Silent_p.T633T			P59923	ZN445_HUMAN	zinc finger protein 445	633					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		TCCATCTAAAGGTTTTCCTAC	0.413													T	44489264	G	T	44489264	2	4	364	1	0	0	0	0	0	0	0	1	18019	987	35	4		4	ZNF445	3	44489264	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525	44489264	153533166	2877	26379											
ZNF445	353274	broad.mit.edu	37	chr3	44496714	44496714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcacccaaacccggagctCcccaggcaggatgctcagga	10	4	11	16	1	1	0	1	0	0	0	2	3	2	3	4	4	4	4	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44496714C>T	ENST00000425708.2	-	2	669	c.328G>A	c.(328-330)Gag>Aag	p.E110K	ZNF445_ENST00000396077.2_Missense_Mutation_p.E110K			P59923	ZN445_HUMAN	zinc finger protein 445	110	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|skin(3)	31				KIRC - Kidney renal clear cell carcinoma(197;0.0514)|Kidney(197;0.0646)		ACCCGGAGCTCCCCAGGCAGG	0.612													T	44496714	C	T	44496714	3	4	364	1	0	0	0	0	1	0	0	0	18019	864	30	2	2791	2	ZNF445	3	44496714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7450	44496714	153525716	2878	26380											
ZNF660	285349	broad.mit.edu	37	chr3	44635693	44635693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcaggagaaaatgaggaGaaagacaagaaatttcaaac	22	4	10	5	0	1	5	1	1	0	4	1	7	1	5	0	2	2	1	0	2	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44635693G>T	ENST00000322734.2	+	3	341	c.8G>T	c.(7-9)aGa>aTa	p.R3I	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	3					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		AAAATGAGGAGAAAGACAAGA	0.403													T	44635693	G	T	44635693	3	4	364	1	0	0	0	0	1	0	0	0	18171	942	33	4	10	4	ZNF660	3	44635693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138979	44635693	153386737	2879	26381											
ZNF660	285349	broad.mit.edu	37	chr3	44636358	44636358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaatgtgatgagtgtggaAaaactttcatcttaaggaaa	16	12	10	3	0	2	3	1	3	1	0	2	5	2	5	0	2	1	0	0	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44636358A>G	ENST00000322734.2	+	3	1006	c.673A>G	c.(673-675)Aaa>Gaa	p.K225E	RP11-944L7.4_ENST00000457331.1_RNA	NM_173658.2	NP_775929.2	Q6AZW8	ZN660_HUMAN	zinc finger protein 660	225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(197;0.0468)|Kidney(197;0.0585)		TGAGTGTGGAAAAACTTTCAT	0.373													G	44636358	A	G	44636358	3	3	364	1	0	0	0	0	1	0	0	0	18171	15	1	3	675	3	ZNF660	3	44636358	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	665	44636358	153386072	2880	26382											
ZNF35	7584	broad.mit.edu	37	chr3	44701410	44701410	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccaactcacacctcatgCgacaccatagaacccatctt	12	10	3	16	1	3	1	2	0	1	1	4	2	4	1	4	0	3	0	4	0	3	3	rs148645131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44701410C>T	ENST00000396056.2	+	4	1790	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	ZNF35_ENST00000542250.1_Nonsense_Mutation_p.R359*|RP11-944L7.4_ENST00000457331.1_RNA|ZNF35_ENST00000296092.3_3'UTR	NM_003420.3	NP_003411.3	P13682	ZNF35_HUMAN	zinc finger protein 35	519					cellular response to retinoic acid|spermatogenesis	nucleus|perinuclear region of cytoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(3)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	12		Ovarian(412;0.0228)		OV - Ovarian serous cystadenocarcinoma(275;2.49e-27)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)		ACACCTCATGCGACACCATAG	0.498													T	44701410	C	T	44701410	4	4	364	1	0	0	0	0	0	1	0	0	17963	760	27	1	1565	1	ZNF35	3	44701410	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65052	44701410	153321020	2881	26383											
ZNF502	91392	broad.mit.edu	37	chr3	44763330	44763330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaggcaaacctctctcagCatcagagaattcatagtgga	15	8	8	10	0	4	1	3	0	1	1	5	3	4	2	1	2	2	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44763330C>T	ENST00000296091.4	+	4	1277	c.1021C>T	c.(1021-1023)Cat>Tat	p.H341Y	ZNF502_ENST00000436624.2_Missense_Mutation_p.H341Y|ZNF502_ENST00000449836.1_Missense_Mutation_p.H341Y	NM_001134440.1|NM_001282880.1|NM_033210.4	NP_001127912.1|NP_001269809.1|NP_149987.2	Q8TBZ5	ZN502_HUMAN	zinc finger protein 502	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(8)|lung(4)|prostate(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00855)|KIRC - Kidney renal clear cell carcinoma(197;0.0471)|Kidney(197;0.0589)		CCTCTCTCAGCATCAGAGAAT	0.403													T	44763330	C	T	44763330	3	4	364	1	0	0	0	0	1	0	0	0	18051	710	25	2	1027	2	ZNF502	3	44763330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61920	44763330	153259100	2882	26384											
KIF15	56992	broad.mit.edu	37	chr3	44893799	44893799	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagattcagtacgtagtgCgactaaagaaggaaaatgtc	17	8	11	5	2	1	3	1	0	0	3	2	5	1	4	0	1	2	2	0	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44893799C>T	ENST00000326047.4	+	34	4221	c.4072C>T	c.(4072-4074)Cga>Tga	p.R1358*	KIF15_ENST00000425755.1_Nonsense_Mutation_p.R993*	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1358					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		GTACGTAGTGCGACTAAAGAA	0.358													T	44893799	C	T	44893799	4	4	364	1	0	0	0	0	0	1	0	0	8335	760	27	1	4206	1	KIF15	3	44893799	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130469	44893799	153128631	2883	26385											
TGM4	7047	broad.mit.edu	37	chr3	44951682	44951682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaactttcttcacatgtcGgtacaatcagatgatgtgct	11	13	9	8	1	3	3	2	1	1	2	4	4	3	3	0	1	3	2	0	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:44951682G>A	ENST00000296125.4	+	11	1496	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	476					peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	TTCACATGTCGGTACAATCAG	0.483													A	44951682	G	A	44951682	2	1	364	1	0	0	0	0	0	0	0	1	15932	1103	39	1		1	TGM4	3	44951682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57883	44951682	153070748	2884	26386											
ZDHHC3	51304	broad.mit.edu	37	chr3	45000730	45000730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagtctcgagatggaatcaGcatgacaaagaggaccacga	15	6	12	8	2	2	3	1	1	1	2	3	7	2	5	1	2	1	2	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45000730G>A	ENST00000296127.3	-	2	472	c.199C>T	c.(199-201)Ctg>Ttg	p.L67L	ZDHHC3_ENST00000342790.4_Silent_p.L67L|ZDHHC3_ENST00000424952.2_Silent_p.L67L	NM_016598.2	NP_057682.1	Q9NYG2	ZDHC3_HUMAN	zinc finger, DHHC-type containing 3	67						Golgi membrane|integral to membrane	zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00943)|KIRC - Kidney renal clear cell carcinoma(197;0.053)|Kidney(197;0.0665)		GATGGAATCAGCATGACAAAG	0.552													A	45000730	G	A	45000730	2	1	364	1	0	0	0	0	0	0	0	1	17717	962	34	2		2	ZDHHC3	3	45000730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49048	45000730	153021700	2885	26387											
CDCP1	64866	broad.mit.edu	37	chr3	45132744	45132744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgcagttagagatgttGacccagaagctgtgatggtg	9	10	16	6	0	0	4	0	2	0	2	0	5	0	4	1	2	2	5	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45132744G>A	ENST00000296129.1	-	7	2048	c.1914C>T	c.(1912-1914)gtC>gtT	p.V638V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	638						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TAGAGATGTTGACCCAGAAGC	0.577													A	45132744	G	A	45132744	2	1	364	1	0	0	0	0	0	0	0	1	3123	1277	45	2		2	CDCP1	3	45132744	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132014	45132744	152889686	2886	26388											
CDCP1	64866	broad.mit.edu	37	chr3	45134805	45134805	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggacaccgtcagaccctGcctggaggcctcttgttgga	9	8	12	12	1	2	1	1	0	1	1	2	4	2	4	4	4	1	1	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45134805G>A	ENST00000296129.1	-	6	1725	c.1591C>T	c.(1591-1593)Cag>Tag	p.Q531*		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	531	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTCAGACCCTGCCTGGAGGCC	0.507													A	45134805	G	A	45134805	4	1	364	1	0	0	0	0	0	1	0	0	3123	1328	46	2	935	2	CDCP1	3	45134805	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2061	45134805	152887625	2887	26389											
CDCP1	64866	broad.mit.edu	37	chr3	45152200	45152200	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagttgaggaaggagacGctggcccgcaggtgtgcagg	9	7	18	7	2	0	3	0	2	0	1	0	5	0	4	1	5	1	4	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45152200G>A	ENST00000296129.1	-	4	923	c.789C>T	c.(787-789)agC>agT	p.S263S	CDCP1_ENST00000425231.2_Silent_p.S263S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	263						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GGAAGGAGACGCTGGCCCGCA	0.572													A	45152200	G	A	45152200	2	1	364	1	0	0	0	0	0	0	0	1	3123	1078	38	1		1	CDCP1	3	45152200	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17395	45152200	152870230	2888	26390											
CDCP1	64866	broad.mit.edu	37	chr3	45160089	45160089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaactgtaatgttgctttctCgtggcagagcaatctcaaaa	12	12	9	8	1	2	1	1	0	2	1	4	2	2	1	0	1	3	5	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45160089C>T	ENST00000296129.1	-	2	241	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	CDCP1_ENST00000425231.2_Missense_Mutation_p.R36Q|CDCP1_ENST00000490471.1_5'UTR	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	36						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		GTTGCTTTCTCGTGGCAGAGC	0.458													T	45160089	C	T	45160089	3	4	364	1	0	0	0	0	1	0	0	0	3123	884	31	1	2443	1	CDCP1	3	45160089	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7889	45160089	152862341	2889	26391											
LARS2	23395	broad.mit.edu	37	chr3	45441826	45441826	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcgtgtctacaccatcagCgacaccatagcacggttcca	10	8	9	14	3	2	0	1	0	1	0	3	1	3	0	3	1	4	2	3	1	2	3	rs140105027	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45441826C>T	ENST00000415258.1	+	3	465	c.324C>T	c.(322-324)agC>agT	p.S108S	LARS2_ENST00000414984.1_Intron|LARS2_ENST00000265537.3_Silent_p.S108S			Q15031	SYLM_HUMAN	leucyl-tRNA synthetase 2, mitochondrial	108					leucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|leucine-tRNA ligase activity			endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				BRCA - Breast invasive adenocarcinoma(193;0.0122)|KIRC - Kidney renal clear cell carcinoma(197;0.0313)|Kidney(197;0.0372)	L-Leucine(DB00149)	ACACCATCAGCGACACCATAG	0.507													T	45441826	C	T	45441826	2	4	364	1	0	0	0	0	0	0	0	1	8694	767	27	1		1	LARS2	3	45441826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	281737	45441826	152580604	2890	26392											
LIMD1	8994	broad.mit.edu	37	chr3	45636938	45636938	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccttggcaagcccaaaGtggggtgacaaaccaggagt	11	7	12	11	0	1	1	0	1	1	0	2	2	1	2	3	4	2	1	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45636938G>A	ENST00000273317.4	+	1	588	c.567G>A	c.(565-567)aaG>aaA	p.K189K	LIMD1_ENST00000440097.1_Silent_p.K189K|LIMD1_ENST00000465039.1_Intron	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	189					cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		CAAGCCCAAAGTGGGGTGACA	0.597													A	45636938	G	A	45636938	2	1	364	1	0	0	0	0	0	0	0	1	8858	1020	36	2		2	LIMD1	3	45636938	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	195112	45636938	152385492	2891	26393											
LIMD1	8994	broad.mit.edu	37	chr3	45714235	45714235	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtttccgctgtgtcatCtgtaatgagtgtttggatgg	5	16	14	6	1	2	1	1	1	1	0	3	2	3	2	1	3	0	5	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45714235C>A	ENST00000273317.4	+	5	1716	c.1695C>A	c.(1693-1695)atC>atA	p.I565I	LIMD1_ENST00000440097.1_Silent_p.I565I|LIMD1_ENST00000465039.1_3'UTR	NM_014240.2	NP_055055.1	Q9UGP4	LIMD1_HUMAN	LIM domains containing 1	565	LIM zinc-binding 2.|Necessary for nuclear localization.				cytoplasmic mRNA processing body assembly|gene silencing by miRNA|multicellular organismal development|negative regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasmic mRNA processing body|nucleus|RNA-induced silencing complex	protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.011)|KIRC - Kidney renal clear cell carcinoma(197;0.0264)|Kidney(197;0.0315)		GCTGTGTCATCTGTAATGAGT	0.527													A	45714235	C	A	45714235	2	1	364	1	0	0	0	0	0	0	0	1	8858	903	32	4		4	LIMD1	3	45714235	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77297	45714235	152308195	2892	26394											
SLC6A20	54716	broad.mit.edu	37	chr3	45801444	45801444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaatcagcagtgggcttaCgccagcccacatcaccttcc	10	7	8	16	1	2	0	2	0	0	0	3	1	3	0	4	1	3	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45801444C>T	ENST00000358525.4	-	10	1649	c.1534G>A	c.(1534-1536)Gta>Ata	p.V512I	SLC6A20_ENST00000456124.2_Missense_Mutation_p.V512I|SLC6A20_ENST00000353278.4_Missense_Mutation_p.V475I	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	512					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.V475L(1)|p.V512L(1)		breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		AGTGGGCTTACGCCAGCCCAC	0.537													T	45801444	C	T	45801444	3	4	364	1	0	0	0	0	1	0	0	0	14778	536	19	1	252	1	SLC6A20	3	45801444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87209	45801444	152220986	2893	26395											
SLC6A20	54716	broad.mit.edu	37	chr3	45807174	45807174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgaccacagctgggacacCtccatgtttttaatggcctc	9	10	8	14	1	0	0	0	0	0	0	2	2	1	1	5	2	1	2	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45807174C>A	ENST00000358525.4	-	8	1273	c.1158G>T	c.(1156-1158)gaG>gaT	p.E386D	SLC6A20_ENST00000456124.2_Missense_Mutation_p.E386D|SLC6A20_ENST00000353278.4_Missense_Mutation_p.E349D|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	386					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		GCTGGGACACCTCCATGTTTT	0.577													A	45807174	C	A	45807174	3	1	364	1	0	0	0	0	1	0	0	0	14778	680	24	4	636	4	SLC6A20	3	45807174	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5730	45807174	152215256	2894	26396											
SLC6A20	54716	broad.mit.edu	37	chr3	45817434	45817434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcacactcctcatcgtagCccgtgtggttaccattcagt	7	13	7	14	2	3	0	3	0	1	0	6	0	4	0	3	1	2	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45817434C>T	ENST00000358525.4	-	4	516	c.401G>A	c.(400-402)gGc>gAc	p.G134D	SLC6A20_ENST00000456124.2_Missense_Mutation_p.G134D|SLC6A20_ENST00000353278.4_Missense_Mutation_p.G134D	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	134					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CTCATCGTAGCCCGTGTGGTT	0.567													T	45817434	C	T	45817434	3	4	364	1	0	0	0	0	1	0	0	0	14778	739	26	2	1409	2	SLC6A20	3	45817434	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10260	45817434	152204996	2895	26397											
LZTFL1	54585	broad.mit.edu	37	chr3	45870074	45870074	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggcagcgacagtgttttCtaagttacttaagtcttggg	10	14	11	6	1	2	0	0	0	2	0	2	1	2	0	0	2	2	3	0	2	4	7	rs146835760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45870074C>A	ENST00000296135.6	-	8	808	c.634G>T	c.(634-636)Gaa>Taa	p.E212*	LZTFL1_ENST00000539217.1_Nonsense_Mutation_p.E208*|LZTFL1_ENST00000536047.1_Nonsense_Mutation_p.E195*	NM_001276378.1|NM_020347.2	NP_001263307.1|NP_065080.1	Q9NQ48	LZTL1_HUMAN	leucine zipper transcription factor-like 1	212										endometrium(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	8				BRCA - Breast invasive adenocarcinoma(193;0.00867)|KIRC - Kidney renal clear cell carcinoma(197;0.0177)|Kidney(197;0.0208)		ACAGTGTTTTCTAAGTTACTT	0.358													A	45870074	C	A	45870074	4	1	364	1	0	0	0	0	0	1	0	0	9207	922	32	4	277	4	LZTFL1	3	45870074	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52640	45870074	152152356	2896	26398											
CCR9	10803	broad.mit.edu	37	chr3	45943196	45943196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcacccagaccatcGccttcttccacagttgcctg	7	10	7	17	1	2	1	1	0	1	1	5	1	4	1	6	1	1	1	6	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45943196G>A	ENST00000357632.2	+	3	1096	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	CCR9_ENST00000395963.2_Missense_Mutation_p.A294T|LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.A294T|LZTFL1_ENST00000536047.1_Intron|CCR9_ENST00000422395.1_3'UTR	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	306					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		CCAGACCATCGCCTTCTTCCA	0.502													A	45943196	G	A	45943196	3	1	364	1	0	0	0	0	1	0	0	0	2978	1087	38	1	922	1	CCR9	3	45943196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73122	45943196	152079234	2897	26399											
FYCO1	79443	broad.mit.edu	37	chr3	45965194	45965194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtagatgccgggtgtgcGaaccttgagctggccctgga	7	9	15	10	2	0	2	0	1	0	1	0	4	0	3	3	3	4	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:45965194G>A	ENST00000296137.2	-	17	4520	c.4315C>T	c.(4315-4317)Cgc>Tgc	p.R1439C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R1459C|FYCO1_ENST00000438446.1_Missense_Mutation_p.R110C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	1439	GOLD.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CCGGGTGTGCGAACCTTGAGC	0.557													A	45965194	G	A	45965194	3	1	364	1	0	0	0	0	1	0	0	0	6177	1058	37	1	129	1	FYCO1	3	45965194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21998	45965194	152057236	2898	26400											
FYCO1	79443	broad.mit.edu	37	chr3	46008666	46008666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgggcttctgccagttgCtggcactgctccacctcctc	3	11	10	17	1	1	0	0	0	1	0	4	0	3	0	5	2	4	5	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46008666C>T	ENST00000296137.2	-	8	2365	c.2160G>A	c.(2158-2160)caG>caA	p.Q720Q	FYCO1_ENST00000535325.1_Silent_p.Q720Q	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	720					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CTGCCAGTTGCTGGCACTGCT	0.607													T	46008666	C	T	46008666	2	4	364	1	0	0	0	0	0	0	0	1	6177	796	28	2		2	FYCO1	3	46008666	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43472	46008666	152013764	2899	26401											
CCR2	729230	broad.mit.edu	37	chr3	46399343	46399343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaaatgagtgggtctttGggaatgcaatgtgcaaatta	12	12	12	5	0	1	1	0	1	1	0	1	2	1	2	0	2	3	3	0	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46399343G>A	ENST00000292301.4	+	2	810	c.325G>A	c.(325-327)Ggg>Agg	p.G109R	CCR2_ENST00000400888.2_Missense_Mutation_p.G109R|CCR2_ENST00000445132.2_Missense_Mutation_p.G109R|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	109					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GTGGGTCTTTGGGAATGCAAT	0.443													A	46399343	G	A	46399343	3	1	364	1	0	0	0	0	1	0	0	0	2971	1348	47	2	327	2	CCR2	3	46399343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	390677	46399343	151623087	2900	26402											
LRRC2	79442	broad.mit.edu	37	chr3	46592989	46592989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctcaagcctttccacCtccttcttctgccaagcttt	5	16	3	17	0	4	0	1	0	4	0	7	0	6	0	5	0	3	1	5	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46592989C>A	ENST00000395905.3	-	2	485	c.93G>T	c.(91-93)gaG>gaT	p.E31D	LRRC2_ENST00000496388.1_Intron|LRRC2_ENST00000296144.3_Missense_Mutation_p.E31D	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	31										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		GCCTTTCCACCTCCTTCTTCT	0.463													A	46592989	C	A	46592989	3	1	364	1	0	0	0	0	1	0	0	0	9046	680	24	4	1054	4	LRRC2	3	46592989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193646	46592989	151429441	2901	26403											
ALS2CL	259173	broad.mit.edu	37	chr3	46718343	46718343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacagccggcctcacctctCgcaggacaggtaatcctgag	10	6	10	15	2	2	1	1	1	1	0	4	2	3	2	4	3	1	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46718343C>T	ENST00000318962.4	-	17	2010	c.1927G>A	c.(1927-1929)Gag>Aag	p.E643K	ALS2CL_ENST00000415953.1_Missense_Mutation_p.E643K|ALS2CL_ENST00000383742.3_5'UTR	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	643					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		CCTCACCTCTCGCAGGACAGG	0.672													T	46718343	C	T	46718343	3	4	364	1	0	0	0	0	1	0	0	0	551	893	31	1	974	1	ALS2CL	3	46718343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125354	46718343	151304087	2902	26404											
ALS2CL	259173	broad.mit.edu	37	chr3	46722850	46722850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggaccccaaatccgtgcCgcaggccctcctggaagtag	10	5	11	15	2	0	0	0	0	0	0	2	2	2	2	6	3	1	2	6	3	4	1	rs117431144	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:46722850C>T	ENST00000318962.4	-	13	1405	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.R441Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	441					endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		AAATCCGTGCCGCAGGCCCTC	0.642													T	46722850	C	T	46722850	3	4	364	1	0	0	0	0	1	0	0	0	551	652	23	1	1595	1	ALS2CL	3	46722850	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4507	46722850	151299580	2903	26405											
NBEAL2	23218	broad.mit.edu	37	chr3	47037063	47037063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctggctctgtctgcaccCtatggatacagcacctaccc	7	10	8	16	0	2	0	0	0	2	0	2	1	2	1	4	2	5	3	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47037063C>T	ENST00000450053.3	+	13	2017	c.1838C>T	c.(1837-1839)cCt>cTt	p.P613L	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.P613L	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	613							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TGTCTGCACCCTATGGATACA	0.632													T	47037063	C	T	47037063	3	4	364	1	0	0	0	0	1	0	0	0	10265	681	24	2	1888	2	NBEAL2	3	47037063	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314213	47037063	150985367	2904	26406											
NBEAL2	23218	broad.mit.edu	37	chr3	47041884	47041884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatacctcgaacaccaGcaacccacaggtgaggtggg	12	5	13	11	1	0	2	0	2	0	0	1	4	0	3	3	4	4	1	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47041884G>A	ENST00000450053.3	+	27	4474	c.4295G>A	c.(4294-4296)aGc>aAc	p.S1432N	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.S1248N	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1432							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCGAACACCAGCAACCCACAG	0.627													A	47041884	G	A	47041884	3	1	364	1	0	0	0	0	1	0	0	0	10265	971	34	2	4401	2	NBEAL2	3	47041884	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4821	47041884	150980546	2905	26407											
NBEAL2	23218	broad.mit.edu	37	chr3	47043273	47043273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgagatggcgcagattgGcctacggcttgtacttggct	6	11	14	10	3	0	2	0	1	0	2	0	3	0	2	2	4	2	4	2	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47043273G>A	ENST00000450053.3	+	30	4918	c.4739G>A	c.(4738-4740)gGc>gAc	p.G1580D	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Missense_Mutation_p.G1396D	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1580							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GCGCAGATTGGCCTACGGCTT	0.607													A	47043273	G	A	47043273	3	1	364	1	0	0	0	0	1	0	0	0	10265	1203	42	2	4857	2	NBEAL2	3	47043273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1389	47043273	150979157	2906	26408											
NBEAL2	23218	broad.mit.edu	37	chr3	47044503	47044503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagacatattcacgcatgcGtctgaagctggtgcccaacc	10	8	10	13	3	2	2	1	1	1	1	2	3	2	2	2	1	4	2	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47044503G>A	ENST00000450053.3	+	34	5695	c.5516G>A	c.(5515-5517)cGt>cAt	p.R1839H	NBEAL2_ENST00000383740.2_Missense_Mutation_p.R118H|NBEAL2_ENST00000292309.5_Missense_Mutation_p.R1655H	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1839							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		TCACGCATGCGTCTGAAGCTG	0.592													A	47044503	G	A	47044503	3	1	364	1	0	0	0	0	1	0	0	0	10265	1145	40	1	5650	1	NBEAL2	3	47044503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1230	47044503	150977927	2907	26409											
NBEAL2	23218	broad.mit.edu	37	chr3	47050155	47050155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgcacatcctccaactaaAcacgtaagccccccatttat	12	9	3	17	1	0	0	0	0	0	0	2	0	2	0	6	0	4	2	6	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47050155A>G	ENST00000450053.3	+	52	8203	c.8024A>G	c.(8023-8025)aAc>aGc	p.N2675S	NBEAL2_ENST00000383740.2_Missense_Mutation_p.N924S|NBEAL2_ENST00000292309.5_Missense_Mutation_p.N2491S	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	2675							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		CTCCAACTAAACACGTAAGCC	0.572													G	47050155	A	G	47050155	3	3	364	1	0	0	0	0	1	0	0	0	10265	43	2	3	8230	3	NBEAL2	3	47050155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5652	47050155	150972275	2908	26410											
SETD2	29072	broad.mit.edu	37	chr3	47098653	47098653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaatgtcccaccaagggCtgagcatgatcataaggagc	13	7	12	9	0	1	3	1	2	0	1	2	4	2	4	2	2	2	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47098653C>T	ENST00000409792.3	-	15	6663	c.6621G>A	c.(6619-6621)caG>caA	p.Q2207Q		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2207	Low charge region.|Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		CCACCAAGGGCTGAGCATGAT	0.557			"N, F, S, Mis"		clear cell renal carcinoma								T	47098653	C	T	47098653	2	4	364	1	0	0	0	0	0	0	0	1	14224	796	28	2		2	SETD2	3	47098653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48498	47098653	150923777	2909	26411											
SETD2	29072	broad.mit.edu	37	chr3	47161785	47161785	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtcatccatgacacaggaGggcccaaccagtgctgaacc	13	5	10	13	0	1	2	1	2	0	0	2	3	2	3	4	2	3	1	4	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47161785G>T	ENST00000409792.3	-	3	4383	c.4341C>A	c.(4339-4341)ccC>ccA	p.P1447P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TGACACAGGAGGGCCCAACCA	0.478			"N, F, S, Mis"		clear cell renal carcinoma								T	47161785	G	T	47161785	2	4	364	1	0	0	0	0	0	0	0	1	14224	987	35	4		4	SETD2	3	47161785	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63132	47161785	150860645	2910	26412											
SETD2	29072	broad.mit.edu	37	chr3	47163376	47163377	+	Frame_Shift_Ins	INS	-	-	T																															atgctttaaaaactctgaacINStttttttactctttagcact																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163376_47163377insT	ENST00000409792.3	-	3	2791_2792	c.2749_2750insA	c.(2749-2751)agtfs	p.S917fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	917					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AAACTCTGAACTTTTTTTACTC	0.431			"N, F, S, Mis"		clear cell renal carcinoma								T	47163377	-	T	47163376	7	5	364	1	0	1	1	0	0	0	0	0	14224	565	20	0	5020	0	SETD2	3	47163376	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1591	47163376	150859054	2911	26413											
SETD2	29072	broad.mit.edu	37	chr3	47163775	47163775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctttggttttgcagcaaGaaaccctcgtatcaactggt	11	13	8	9	1	2	1	1	0	1	1	3	1	2	1	1	2	4	4	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47163775G>T	ENST00000409792.3	-	3	2393	c.2351C>A	c.(2350-2352)tCt>tAt	p.S784Y		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	784					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTTGCAGCAAGAAACCCTCGT	0.393			"N, F, S, Mis"		clear cell renal carcinoma								T	47163775	G	T	47163775	3	4	364	1	0	0	0	0	1	0	0	0	14224	942	33	4	5419	4	SETD2	3	47163775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	399	47163775	150858655	2912	26414											
KIF9	64147	broad.mit.edu	37	chr3	47307308	47307308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagggcaatgatggcctgCtccaggaatgagagcgattt	11	8	13	9	1	0	2	0	2	0	1	1	5	1	3	3	3	2	2	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47307308C>T	ENST00000335044.2	-	8	1185	c.828G>A	c.(826-828)gaG>gaA	p.E276E	KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000265529.3_Silent_p.E276E|KIF9_ENST00000452770.2_Silent_p.E276E|KIF9_ENST00000444589.2_Silent_p.E276E|KIF9_ENST00000352910.4_Silent_p.E183E	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	276					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGATGGCCTGCTCCAGGAATG	0.542													T	47307308	C	T	47307308	2	4	364	1	0	0	0	0	0	0	0	1	8368	796	28	2		2	KIF9	3	47307308	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143533	47307308	150715122	2913	26415											
PTPN23	25930	broad.mit.edu	37	chr3	47450427	47450427	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaggtgaggcgagaaTgggccaagtacatggaagtc	12	6	17	6	1	0	3	0	1	0	2	1	5	0	4	1	5	1	2	1	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47450427T>C	ENST00000265562.4	+	16	1569	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	PTPN23_ENST00000431726.1_Missense_Mutation_p.W372R	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	498					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GAGGCGAGAATGGGCCAAGTA	0.612													C	47450427	T	C	47450427	3	2	364	1	0	0	0	0	1	0	0	0	12876	1464	51	3	1554	3	PTPN23	3	47450427	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	143119	47450427	150572003	2914	26416											
SCAP	22937	broad.mit.edu	37	chr3	47459175	47459175	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccccgaagagggaaggCggcggagggccccgggggcg	6	2	22	11	5	0	1	0	0	0	1	1	4	1	3	4	8	0	0	4	8	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459175C>T	ENST00000265565.5	-	17	3001	c.2589G>A	c.(2587-2589)ccG>ccA	p.P863P	SCAP_ENST00000441517.2_Silent_p.P607P|SCAP_ENST00000545718.1_Silent_p.P470P	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	863	Interaction with SREBF2 (By similarity).|Poly-Pro.				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGAGGGAAGGCGGCGGAGGGC	0.662													T	47459175	C	T	47459175	2	4	364	1	0	0	0	0	0	0	0	1	13969	755	27	1		1	SCAP	3	47459175	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8748	47459175	150563255	2915	26417											
SCAP	22937	broad.mit.edu	37	chr3	47459213	47459213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtctcaggggagggcTgtccccaggctcctctggac	4	8	16	13	1	2	0	1	0	2	0	5	2	4	2	3	6	0	2	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47459213T>C	ENST00000265565.5	-	17	2963	c.2551A>G	c.(2551-2553)Agc>Ggc	p.S851G	SCAP_ENST00000441517.2_Missense_Mutation_p.S595G|SCAP_ENST00000545718.1_Missense_Mutation_p.S458G	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	851	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGGGGAGGGCTGTCCCCAGGC	0.662													C	47459213	T	C	47459213	3	2	364	1	0	0	0	0	1	0	0	0	13969	1580	55	3	1316	3	SCAP	3	47459213	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38	47459213	150563217	2916	26418											
SCAP	22937	broad.mit.edu	37	chr3	47460252	47460252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccaggcactgcggccGtcctgagggtgccggccctc	3	5	18	15	3	0	1	0	1	0	0	2	1	1	1	5	6	2	1	5	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460252G>A	ENST00000265565.5	-	14	2434	c.2022C>T	c.(2020-2022)gaC>gaT	p.D674D	SCAP_ENST00000441517.2_Silent_p.D419D|SCAP_ENST00000545718.1_Silent_p.D282D	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	674					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CACTGCGGCCGTCCTGAGGGT	0.701													A	47460252	G	A	47460252	2	1	364	1	0	0	0	0	0	0	0	1	13969	1136	40	1		1	SCAP	3	47460252	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1039	47460252	150562178	2917	26419											
SCAP	22937	broad.mit.edu	37	chr3	47460853	47460853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttgtaatagctgaagagCgtcggccagtggcggaagga	11	8	16	6	3	0	2	0	1	0	1	1	4	0	4	1	4	2	3	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47460853C>T	ENST00000265565.5	-	13	2317	c.1905G>A	c.(1903-1905)acG>acA	p.T635T	SCAP_ENST00000441517.2_Silent_p.T380T|SCAP_ENST00000545718.1_Silent_p.T243T	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	635					cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AGCTGAAGAGCGTCGGCCAGT	0.577													T	47460853	C	T	47460853	2	4	364	1	0	0	0	0	0	0	0	1	13969	755	27	1		1	SCAP	3	47460853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	601	47460853	150561577	2918	26420											
CSPG5	10675	broad.mit.edu	37	chr3	47614279	47614279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggacgagggcagccgagcCcacggccacgcacatcacct	10	2	12	17	4	1	0	1	0	0	0	1	3	1	1	4	3	2	2	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47614279C>T	ENST00000383738.2	-	3	3377	c.1279G>A	c.(1279-1281)Ggc>Agc	p.G427S	CSPG5_ENST00000264723.4_Missense_Mutation_p.G427S|CSPG5_ENST00000456150.1_Missense_Mutation_p.G289S	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	427					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCAGCCGAGCCCACGGCCACG	0.582													T	47614279	C	T	47614279	3	4	364	1	0	0	0	0	1	0	0	0	3994	623	22	2	352	2	CSPG5	3	47614279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153426	47614279	150408151	2919	26421											
CSPG5	10675	broad.mit.edu	37	chr3	47618449	47618449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccactgcggcactcagtgCcattttcactggaggccaag	9	8	11	13	1	2	0	2	0	0	0	2	1	2	1	3	3	3	1	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47618449C>T	ENST00000383738.2	-	2	3165	c.1067G>A	c.(1066-1068)gGc>gAc	p.G356D	CSPG5_ENST00000264723.4_Missense_Mutation_p.G356D|CSPG5_ENST00000456150.1_Missense_Mutation_p.G218D	NM_001206943.1|NM_001206945.1	NP_001193872.1|NP_001193874.1	O95196	CSPG5_HUMAN	chondroitin sulfate proteoglycan 5 (neuroglycan C)	356					cell differentiation|intracellular transport|nervous system development|regulation of growth	endoplasmic reticulum membrane|Golgi-associated vesicle membrane|integral to plasma membrane|membrane fraction	growth factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	22				BRCA - Breast invasive adenocarcinoma(193;0.000266)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GCACTCAGTGCCATTTTCACT	0.642													T	47618449	C	T	47618449	3	4	364	1	0	0	0	0	1	0	0	0	3994	739	26	2	568	2	CSPG5	3	47618449	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4170	47618449	150403981	2920	26422											
SMARCC1	6599	broad.mit.edu	37	chr3	47629740	47629740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggccaggagcaggaggcgGagggaccccatctgcaggtg	8	3	19	11	2	1	0	0	0	1	0	1	4	1	4	3	7	2	2	3	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47629740G>T	ENST00000254480.5	-	28	3396	c.3277C>A	c.(3277-3279)Ccg>Acg	p.P1093T	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	1093	Pro-rich.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		GCAGGAGGCGGAGGGACCCCA	0.597													T	47629740	G	T	47629740	3	4	364	1	0	0	0	0	1	0	0	0	14869	1174	41	4	44	4	SMARCC1	3	47629740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11291	47629740	150392690	2921	26423											
SMARCC1	6599	broad.mit.edu	37	chr3	47663813	47663813	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggacttgatctttctttCttccactgcagccaggtgct	6	14	9	12	0	3	1	0	1	3	0	4	2	4	2	2	2	3	2	2	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47663813C>A	ENST00000254480.5	-	25	2784	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	889					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		ATCTTTCTTTCTTCCACTGCA	0.373													A	47663813	C	A	47663813	4	1	364	1	0	0	0	0	0	1	0	0	14869	922	32	4	668	4	SMARCC1	3	47663813	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34073	47663813	150358617	2922	26424											
SMARCC1	6599	broad.mit.edu	37	chr3	47703916	47703916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taactggatttcctgactgaCtgaaggggacaggctggtag	10	10	14	7	0	0	3	0	3	0	0	1	5	1	5	1	5	1	2	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47703916C>T	ENST00000254480.5	-	20	2185	c.2066G>A	c.(2065-2067)aGt>aAt	p.S689N	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	689					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCCTGACTGACTGAAGGGGAC	0.512													T	47703916	C	T	47703916	3	4	364	1	0	0	0	0	1	0	0	0	14869	565	20	2	1287	2	SMARCC1	3	47703916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40103	47703916	150318514	2923	26425											
SMARCC1	6599	broad.mit.edu	37	chr3	47823105	47823105	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacccaccttcttgtagtgCttgcccagccagacccgcac	8	8	8	17	1	1	1	0	0	1	1	1	2	1	1	5	0	4	3	5	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47823105C>T	ENST00000254480.5	-	1	302	c.183G>A	c.(181-183)aaG>aaA	p.K61K	SMARCC1_ENST00000425518.1_Intron	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	61					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCTTGTAGTGCTTGCCCAGCC	0.711													T	47823105	C	T	47823105	2	4	364	1	0	0	0	0	0	0	0	1	14869	796	28	2		2	SMARCC1	3	47823105	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119189	47823105	150199325	2924	26426											
DHX30	22907	broad.mit.edu	37	chr3	47882639	47882639	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtccatgacccagcaGgattcccacgctccactcag	8	10	7	16	1	2	1	1	1	1	0	5	2	5	2	4	1	1	2	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47882639G>T	ENST00000446256.2	+	8	1094	c.522G>T	c.(520-522)caG>caT	p.Q174H	DHX30_ENST00000445061.1_Missense_Mutation_p.Q213H|DHX30_ENST00000348968.4_Missense_Mutation_p.Q185H|DHX30_ENST00000457607.1_Missense_Mutation_p.Q241H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	213						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGACCCAGCAGGATTCCCACG	0.567													T	47882639	G	T	47882639	3	4	364	1	0	0	0	0	1	0	0	0	4543	991	35	4	668	4	DHX30	3	47882639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59534	47882639	150139791	2925	26427											
DHX30	22907	broad.mit.edu	37	chr3	47888408	47888408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaggtgcctggcttcatgTacccagtcaaggagcactac	10	9	10	12	0	3	0	3	0	0	0	3	1	3	1	2	3	4	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888408T>C	ENST00000446256.2	+	12	2301	c.1729T>C	c.(1729-1731)Tac>Cac	p.Y577H	DHX30_ENST00000445061.1_Missense_Mutation_p.Y616H|DHX30_ENST00000348968.4_Missense_Mutation_p.Y588H|DHX30_ENST00000457607.1_Missense_Mutation_p.Y644H	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	616	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGCTTCATGTACCCAGTCAA	0.617													C	47888408	T	C	47888408	3	2	364	1	0	0	0	0	1	0	0	0	4543	1638	57	3	1891	3	DHX30	3	47888408	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5769	47888408	150134022	2926	26428											
DHX30	22907	broad.mit.edu	37	chr3	47888776	47888776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagtctgaggatgaatGcgcactcgatttggaccttg	9	10	11	11	2	1	2	0	2	1	0	2	5	1	4	3	2	1	1	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47888776G>A	ENST00000446256.2	+	13	2398	c.1826G>A	c.(1825-1827)tGc>tAc	p.C609Y	DHX30_ENST00000445061.1_Missense_Mutation_p.C648Y|DHX30_ENST00000348968.4_Missense_Mutation_p.C620Y|DHX30_ENST00000457607.1_Missense_Mutation_p.C676Y	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	648	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		GAGGATGAATGCGCACTCGAT	0.612													A	47888776	G	A	47888776	3	1	364	1	0	0	0	0	1	0	0	0	4543	1319	46	2	1992	2	DHX30	3	47888776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368	47888776	150133654	2927	26429											
DHX30	22907	broad.mit.edu	37	chr3	47889410	47889410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcatgtggtggacagtggGctgcacaaggaagaacgcta	11	7	16	7	1	0	1	0	0	0	1	0	3	0	3	0	4	3	4	0	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:47889410G>A	ENST00000446256.2	+	15	2705	c.2133G>A	c.(2131-2133)ggG>ggA	p.G711G	DHX30_ENST00000445061.1_Silent_p.G750G|DHX30_ENST00000348968.4_Silent_p.G722G|DHX30_ENST00000457607.1_Silent_p.G778G	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	750	Helicase C-terminal.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TGGACAGTGGGCTGCACAAGG	0.577													A	47889410	G	A	47889410	2	1	364	1	0	0	0	0	0	0	0	1	4543	1190	42	2		2	DHX30	3	47889410	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	634	47889410	150133020	2928	26430											
CDC25A	993	broad.mit.edu	37	chr3	48215880	48215880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcttgagatcgttctggtCtcttcaacactgaccgagtg	7	13	9	12	2	4	2	1	2	3	1	6	4	4	2	2	1	1	1	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48215880C>T	ENST00000302506.3	-	9	1232	c.824G>A	c.(823-825)aGa>aAa	p.R275K	CDC25A_ENST00000351231.3_Missense_Mutation_p.R235K|CDC25A_ENST00000459900.1_5'UTR	NM_001789.2	NP_001780.2	P30304	MPIP1_HUMAN	cell division cycle 25A	275					cell cycle checkpoint|cell division|cell proliferation|cellular response to UV|DNA replication|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.000685)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		TCGTTCTGGTCTCTTCAACAC	0.507													T	48215880	C	T	48215880	3	4	364	1	0	0	0	0	1	0	0	0	3092	913	32	2	778	2	CDC25A	3	48215880	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326470	48215880	149806550	2929	26431											
ZNF589	51385	broad.mit.edu	37	chr3	48310236	48310236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctcattaagcaccagaGaattcacacgggggataagc	15	6	11	9	1	2	2	2	0	0	2	2	4	2	3	1	2	3	2	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48310236G>T	ENST00000354698.3	+	4	1127	c.1055G>T	c.(1054-1056)aGa>aTa	p.R352I	ZNF589_ENST00000440261.2_Intron|ZNF589_ENST00000412564.1_Intron|ZNF589_ENST00000427617.2_Intron	NM_016089.2	NP_057173.2	Q86UQ0	ZN589_HUMAN	zinc finger protein 589	352					regulation of transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4				BRCA - Breast invasive adenocarcinoma(193;0.000649)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AAGCACCAGAGAATTCACACG	0.478													T	48310236	G	T	48310236	3	4	364	1	0	0	0	0	1	0	0	0	18122	942	33	4	1069	4	ZNF589	3	48310236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94356	48310236	149712194	2930	26432											
PLXNB1	5364	broad.mit.edu	37	chr3	48459659	48459659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcagcctcaccacaggcctCccgggtcacacaacgtggac	9	5	9	18	2	3	0	3	0	0	0	4	1	4	1	4	3	2	0	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48459659C>T	ENST00000358536.4	-	15	3432	c.3163G>A	c.(3163-3165)Gag>Aag	p.E1055K	PLXNB1_ENST00000296440.6_Missense_Mutation_p.E1055K|PLXNB1_ENST00000358459.4_Missense_Mutation_p.E872K|PLXNB1_ENST00000456774.1_Missense_Mutation_p.E872K|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1055					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCACAGGCCTCCCGGGTCACA	0.637													T	48459659	C	T	48459659	3	4	364	1	0	0	0	0	1	0	0	0	12200	864	30	2	3340	2	PLXNB1	3	48459659	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149423	48459659	149562771	2931	26433											
PLXNB1	5364	broad.mit.edu	37	chr3	48460444	48460444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacactcattgtctcctgggCcatcctgagggcagagaaca	10	8	10	13	0	2	2	1	1	1	1	4	3	3	2	3	2	1	1	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48460444C>T	ENST00000358536.4	-	13	3106	c.2837G>A	c.(2836-2838)gGc>gAc	p.G946D	PLXNB1_ENST00000296440.6_Missense_Mutation_p.G946D|PLXNB1_ENST00000358459.4_Missense_Mutation_p.G763D|PLXNB1_ENST00000456774.1_Missense_Mutation_p.G763D|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	946					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCTCCTGGGCCATCCTGAGG	0.622													T	48460444	C	T	48460444	3	4	364	1	0	0	0	0	1	0	0	0	12200	739	26	2	3674	2	PLXNB1	3	48460444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	785	48460444	149561986	2932	26434											
PLXNB1	5364	broad.mit.edu	37	chr3	48465435	48465435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcataggagaaggcagCttgggggtcgggcggccaca	8	6	16	11	2	1	1	1	0	0	1	3	2	2	1	2	6	1	2	2	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48465435C>A	ENST00000358536.4	-	3	855	c.586G>T	c.(586-588)Gct>Tct	p.A196S	PLXNB1_ENST00000296440.6_Missense_Mutation_p.A196S|PLXNB1_ENST00000358459.4_Missense_Mutation_p.A196S|PLXNB1_ENST00000456774.1_Missense_Mutation_p.A196S|PLXNB1_ENST00000448774.2_Intron	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	196	Sema.				axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGAAGGCAGCTTGGGGGTCG	0.662													A	48465435	C	A	48465435	3	1	364	1	0	0	0	0	1	0	0	0	12200	797	28	4	5965	4	PLXNB1	3	48465435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4991	48465435	149556995	2933	26435											
ATRIP	84126	broad.mit.edu	37	chr3	48498762	48498762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttagtgctaacatgtccCttccccacccctgccagacg	7	11	6	17	1	0	1	0	0	0	1	2	1	2	1	6	0	3	1	6	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48498762C>A	ENST00000412052.1	+	5	958	c.496C>A	c.(496-498)Ctt>Att	p.L166I	ATRIP_ENST00000320211.3_Missense_Mutation_p.L259I|ATRIP_ENST00000346691.4_Missense_Mutation_p.L259I|ATRIP_ENST00000357105.6_Missense_Mutation_p.L132I	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	259					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TAACATGTCCCTTCCCCACCC	0.438								Other conserved DNA damage response genes					A	48498762	C	A	48498762	3	1	364	1	0	0	0	0	1	0	0	0	1210	681	24	4	793	4	ATRIP	3	48498762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33327	48498762	149523668	2934	26436											
ATRIP	84126	broad.mit.edu	37	chr3	48501694	48501694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccactctgccagcttcCtggagccgtgcatttcctcc	4	12	7	18	1	1	0	0	0	1	0	5	1	5	1	6	1	4	2	6	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48501694C>A	ENST00000412052.1	+	8	1424	c.962C>A	c.(961-963)cCt>cAt	p.P321H	ATRIP_ENST00000320211.3_Missense_Mutation_p.P414H|ATRIP_ENST00000346691.4_Missense_Mutation_p.P414H|ATRIP_ENST00000357105.6_Missense_Mutation_p.P287H	NM_001271023.1	NP_001257952.1	Q8WXE1	ATRIP_HUMAN	ATR interacting protein	414					DNA damage checkpoint|DNA repair|DNA replication	nucleoplasm	protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|cervix(2)|endometrium(1)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)	22				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TGCCAGCTTCCTGGAGCCGTG	0.592								Other conserved DNA damage response genes					A	48501694	C	A	48501694	3	1	364	1	0	0	0	0	1	0	0	0	1210	681	24	4	1271	4	ATRIP	3	48501694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2932	48501694	149520736	2935	26437											
TREX1	11277	broad.mit.edu	37	chr3	48508920	48508920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccagggaggggctgctggCcccactgggtctgctggcca	5	7	16	13	0	1	0	0	0	1	0	2	1	2	1	4	6	2	3	4	6	0	0	rs79318303		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48508920C>T	ENST00000296443.9	+	3	1753	c.866C>T	c.(865-867)gCc>gTc	p.A289V	TREX1_ENST00000436480.2_Missense_Mutation_p.A289V|TREX1_ENST00000456089.1_Missense_Mutation_p.A150V|TREX1_ENST00000444177.1_Missense_Mutation_p.A279V|TREX1_ENST00000422277.2_Missense_Mutation_p.A344V|TREX1_ENST00000433541.1_Missense_Mutation_p.A150V			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	344					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGCTGCTGGCCCCACTGGGT	0.592													T	48508920	C	T	48508920	3	4	364	1	0	0	0	0	1	0	0	0	16577	739	26	2	1033	2	TREX1	3	48508920	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7226	48508920	149513510	2936	26438											
COL7A1	1294	broad.mit.edu	37	chr3	48605530	48605530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtttctttcctaccttgaggCcccggggacccatgaagcca	7	10	10	14	1	1	2	0	2	1	0	2	3	2	3	6	3	2	1	6	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48605530C>T	ENST00000328333.8	-	105	7975	c.7868G>A	c.(7867-7869)gGc>gAc	p.G2623D	COL7A1_ENST00000454817.1_Missense_Mutation_p.G2591D	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2623	Triple-helical region.		G -> C (in PR-DEB; dominant).		cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TACCTTGAGGCCCCGGGGACC	0.537													T	48605530	C	T	48605530	3	4	364	1	0	0	0	0	1	0	0	0	3735	739	26	2	1022	2	COL7A1	3	48605530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96610	48605530	149416900	2937	26439											
COL7A1	1294	broad.mit.edu	37	chr3	48608556	48608556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacacctggagggccaggaGgcccaggggagcccgggacc	8	2	17	14	1	1	0	1	0	0	0	1	4	1	4	5	7	1	0	5	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48608556G>T	ENST00000328333.8	-	93	7249	c.7142C>A	c.(7141-7143)cCt>cAt	p.P2381H	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2349H	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2381	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGCCAGGAGGCCCAGGGGA	0.632													T	48608556	G	T	48608556	3	4	364	1	0	0	0	0	1	0	0	0	3735	1000	35	4	1796	4	COL7A1	3	48608556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3026	48608556	149413874	2938	26440											
COL7A1	1294	broad.mit.edu	37	chr3	48609476	48609476	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgcacggccagcttcAccctgcacagaatggcaggt	8	7	10	16	1	1	1	1	0	0	1	2	1	2	1	4	3	3	4	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48609476A>G	ENST00000328333.8	-	91	7133	c.7026T>C	c.(7024-7026)ggT>ggC	p.G2342G	COL7A1_ENST00000454817.1_Silent_p.G2310G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2342	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGCCAGCTTCACCCTGCACAG	0.662													G	48609476	A	G	48609476	2	3	364	1	0	0	0	0	0	0	0	1	3735	146	6	3		3	COL7A1	3	48609476	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	920	48609476	149412954	2939	26441											
COL7A1	1294	broad.mit.edu	37	chr3	48619141	48619141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacttcgcttcacttacccGttccccttggactccggtag	6	12	7	16	3	1	0	1	0	0	0	4	1	3	1	4	2	1	3	4	2	2	6	rs144663654		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48619141G>A	ENST00000328333.8	-	48	4827	c.4720C>T	c.(4720-4722)Cgg>Tgg	p.R1574W	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1574W	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1574	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCACTTACCCGTTCCCCTTGG	0.582													A	48619141	G	A	48619141	3	1	364	1	0	0	0	0	1	0	0	0	3735	1144	40	1	4398	1	COL7A1	3	48619141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9665	48619141	149403289	2940	26442											
COL7A1	1294	broad.mit.edu	37	chr3	48624626	48624626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cactacgcccactatacctgGcgtctgtgtgacagatgcct	8	10	9	14	2	1	2	0	1	1	1	1	2	1	2	3	1	3	0	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48624626G>T	ENST00000328333.8	-	23	3243	c.3136C>A	c.(3136-3138)Cca>Aca	p.P1046T	COL7A1_ENST00000454817.1_Missense_Mutation_p.P1046T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1046	Fibronectin type-III 9.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTATACCTGGCGTCTGTGTG	0.612													T	48624626	G	T	48624626	3	4	364	1	0	0	0	0	1	0	0	0	3735	1203	42	4	6082	4	COL7A1	3	48624626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5485	48624626	149397804	2941	26443											
COL7A1	1294	broad.mit.edu	37	chr3	48627942	48627942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cactggctccagggacgggtCcccaggccaccctcactcgc	6	5	11	19	2	1	0	1	0	0	0	4	1	3	1	5	4	0	1	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48627942C>T	ENST00000328333.8	-	14	1963	c.1856G>A	c.(1855-1857)gGa>gAa	p.G619E	COL7A1_ENST00000454817.1_Missense_Mutation_p.G619E	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	619	Fibronectin type-III 5.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGGGACGGGTCCCCAGGCCAC	0.592													T	48627942	C	T	48627942	3	4	364	1	0	0	0	0	1	0	0	0	3735	855	30	2	7398	2	COL7A1	3	48627942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3316	48627942	149394488	2942	26444											
COL7A1	1294	broad.mit.edu	37	chr3	48629795	48629795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcaccactgaggaccCgccatgtcacacggtagcca	10	6	8	17	2	3	1	3	1	0	0	3	2	3	2	4	2	1	1	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48629795C>T	ENST00000328333.8	-	8	1189	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R361Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	361	Fibronectin type-III 2.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ACTGAGGACCCGCCATGTCAC	0.632													T	48629795	C	T	48629795	3	4	364	1	0	0	0	0	1	0	0	0	3735	652	23	1	8196	1	COL7A1	3	48629795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1853	48629795	149392635	2943	26445											
UQCRC1	7384	broad.mit.edu	37	chr3	48638221	48638221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgctgaaggtctggaaaCtctggcatagcttgttggcc	9	11	13	8	0	2	2	0	1	2	1	2	3	2	3	1	4	3	4	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48638221C>A	ENST00000203407.5	-	9	1435	c.1019G>T	c.(1018-1020)aGt>aTt	p.S340I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	340					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	GGTCTGGAAACTCTGGCATAG	0.547													A	48638221	C	A	48638221	3	1	364	1	0	0	0	0	1	0	0	0	17121	565	20	4	443	4	UQCRC1	3	48638221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8426	48638221	149384209	2944	26446											
UQCRC1	7384	broad.mit.edu	37	chr3	48642153	48642153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgctgtaggcattaaGatgggcccccatgctctcca	7	9	12	13	1	1	1	0	0	1	1	2	1	1	1	4	3	2	4	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48642153G>T	ENST00000203407.5	-	4	774	c.358C>A	c.(358-360)Ctt>Att	p.L120I		NM_003365.2	NP_003356.2	P31930	QCR1_HUMAN	ubiquinol-cytochrome c reductase core protein I	120					aerobic respiration|proteolysis		metalloendopeptidase activity|ubiquinol-cytochrome-c reductase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)	Atovaquone(DB01117)	TAGGCATTAAGATGGGCCCCC	0.557													T	48642153	G	T	48642153	3	4	364	1	0	0	0	0	1	0	0	0	17121	942	33	4	1124	4	UQCRC1	3	48642153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3932	48642153	149380277	2945	26447											
TMEM89	440955	broad.mit.edu	37	chr3	48659143	48659143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgtgggtggaggcagacGtcaccagcaggagcagcaaa	12	3	17	9	2	1	1	1	0	0	1	1	3	1	3	1	5	3	4	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48659143G>A	ENST00000330862.3	-	1	145	c.47C>T	c.(46-48)aCg>aTg	p.T16M		NM_001008269.1	NP_001008270.1	A2RUT3	TMM89_HUMAN	transmembrane protein 89	16						integral to membrane				breast(1)|lung(1)|stomach(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGAGGCAGACGTCACCAGCAG	0.672													A	48659143	G	A	48659143	3	1	364	1	0	0	0	0	1	0	0	0	16313	1145	40	1	439	1	TMEM89	3	48659143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16990	48659143	149363287	2946	26448											
SLC26A6	65010	broad.mit.edu	37	chr3	48669381	48669381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatacttgagctgtgagaCgaagacctgcacagctgcag	12	7	11	11	1	0	3	0	2	0	2	0	5	0	3	1	0	5	4	1	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48669381C>T	ENST00000358747.6	-	5	869	c.619G>A	c.(619-621)Gtc>Atc	p.V207I	SLC26A6_ENST00000395550.2_Missense_Mutation_p.V228I|SLC26A6_ENST00000482282.1_5'UTR|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000455886.2_Missense_Mutation_p.R193H|SLC26A6_ENST00000383733.3_Missense_Mutation_p.V228I|SLC26A6_ENST00000420764.2_Missense_Mutation_p.V228I	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		AGCTGTGAGACGAAGACCTGC	0.582													T	48669381	C	T	48669381	3	4	364	1	0	0	0	0	1	0	0	0	14615	536	19	1	1697	1	SLC26A6	3	48669381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10238	48669381	149353049	2947	26449											
CELSR3	1951	broad.mit.edu	37	chr3	48679324	48679324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcactctgggctgctcgGcagagtggccgttggaagcg	5	9	15	12	3	2	1	1	0	2	1	4	2	2	2	1	4	2	4	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48679324G>A	ENST00000544264.1	-	33	9079	c.8799C>T	c.(8797-8799)tgC>tgT	p.C2933C	CELSR3_ENST00000164024.4_Silent_p.C2928C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2928					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGGCTGCTCGGCAGAGTGGCC	0.617													A	48679324	G	A	48679324	2	1	364	1	0	0	0	0	0	0	0	1	3253	1195	42	2		2	CELSR3	3	48679324	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9943	48679324	149343106	2948	26450											
CELSR3	1951	broad.mit.edu	37	chr3	48685340	48685340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgtgaggatcccaggcatCctggcctcgaaagaggttgc	8	8	15	10	1	0	2	0	1	0	1	3	4	2	3	3	5	1	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48685340C>T	ENST00000544264.1	-	21	7358	c.7078G>A	c.(7078-7080)Gat>Aat	p.D2360N	CELSR3_ENST00000164024.4_Missense_Mutation_p.D2355N			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2355					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TCCCAGGCATCCTGGCCTCGA	0.647													T	48685340	C	T	48685340	3	4	364	1	0	0	0	0	1	0	0	0	3253	855	30	2	2939	2	CELSR3	3	48685340	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6016	48685340	149337090	2949	26451											
CELSR3	1951	broad.mit.edu	37	chr3	48689349	48689349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtctgccagaggtcccGgcagtctgcgtgaggtgggc	7	7	17	10	2	2	2	0	1	2	1	3	2	3	2	2	5	2	1	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689349G>A	ENST00000544264.1	-	12	6164	c.5884C>T	c.(5884-5886)Cgg>Tgg	p.R1962W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1962W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1962	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CAGAGGTCCCGGCAGTCTGCG	0.657													A	48689349	G	A	48689349	3	1	364	1	0	0	0	0	1	0	0	0	3253	1115	39	1	4150	1	CELSR3	3	48689349	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4009	48689349	149333081	2950	26452											
CELSR3	1951	broad.mit.edu	37	chr3	48689388	48689388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcccagaggcacaggCgttggtcacaacacagccag	11	3	14	13	1	1	1	1	0	0	1	1	1	1	1	2	4	2	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48689388C>T	ENST00000544264.1	-	12	6125	c.5845G>A	c.(5845-5847)Gcc>Acc	p.A1949T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1949T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1949	EGF-like 5; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAGGCACAGGCGTTGGTCACA	0.672													T	48689388	C	T	48689388	3	4	364	1	0	0	0	0	1	0	0	0	3253	768	27	1	4189	1	CELSR3	3	48689388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	48689388	149333042	2951	26453											
CELSR3	1951	broad.mit.edu	37	chr3	48694281	48694281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcggcagcgcaggccagCgatgggctggatgggtcgga	7	4	20	10	4	0	0	0	0	0	0	1	3	0	2	1	6	3	4	1	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694281C>T	ENST00000544264.1	-	2	4529	c.4249G>A	c.(4249-4251)Gct>Act	p.A1417T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1417T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1417	EGF-like 1; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCAGGCCAGCGATGGGCTGG	0.647													T	48694281	C	T	48694281	3	4	364	1	0	0	0	0	1	0	0	0	3253	768	27	1	5825	1	CELSR3	3	48694281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4893	48694281	149328149	2952	26454											
CELSR3	1951	broad.mit.edu	37	chr3	48694535	48694535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccccacgtggagctagcGccgagaaactcacattgagc	10	5	12	14	4	1	2	1	1	0	1	1	4	1	3	3	2	4	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48694535G>A	ENST00000544264.1	-	2	4275	c.3995C>T	c.(3994-3996)gCg>gTg	p.A1332V	CELSR3_ENST00000164024.4_Missense_Mutation_p.A1332V			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1332					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TGGAGCTAGCGCCGAGAAACT	0.672													A	48694535	G	A	48694535	3	1	364	1	0	0	0	0	1	0	0	0	3253	1087	38	1	6079	1	CELSR3	3	48694535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254	48694535	149327895	2953	26455											
CELSR3	1951	broad.mit.edu	37	chr3	48697457	48697457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatggtgctacccattggccGatcttcattcacactcactg	8	13	7	13	1	4	0	3	0	1	0	4	1	4	0	2	2	2	1	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48697457G>A	ENST00000544264.1	-	1	2891	c.2611C>T	c.(2611-2613)Cgg>Tgg	p.R871W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R871W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	871	Cadherin 6.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		cccattggccgatcttcattc	0.507													A	48697457	G	A	48697457	3	1	364	1	0	0	0	0	1	0	0	0	3253	1057	37	1	7467	1	CELSR3	3	48697457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2922	48697457	149324973	2954	26456											
NCKIPSD	51517	broad.mit.edu	37	chr3	48717251	48717251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccatttggtaataggccaCcaaggccaggacagactcga	13	7	10	11	1	0	1	0	0	0	1	1	3	0	2	4	4	1	1	4	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48717251C>T	ENST00000294129.2	-	7	1452	c.1333G>A	c.(1333-1335)Gtg>Atg	p.V445M	NCKIPSD_ENST00000416649.2_Missense_Mutation_p.V438M|NCKIPSD_ENST00000341520.4_Missense_Mutation_p.V445M	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	445	Leu-rich.				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TAATAGGCCACCAAGGCCAGG	0.522													T	48717251	C	T	48717251	3	4	364	1	0	0	0	0	1	0	0	0	10301	507	18	2	863	2	NCKIPSD	3	48717251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19794	48717251	149305179	2955	26457											
IP6K2	51447	broad.mit.edu	37	chr3	48732511	48732511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggcaacccctccagcaGctgggacttacctttgtact	7	11	10	13	0	0	0	0	0	0	0	1	1	1	1	4	2	5	4	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48732511G>A	ENST00000431721.2	-	3	616	c.379C>T	c.(379-381)Ctg>Ttg	p.L127L	IP6K2_ENST00000446860.1_Silent_p.L130L|IP6K2_ENST00000443964.1_Silent_p.L131L|IP6K2_ENST00000449610.1_Silent_p.L72L|IP6K2_ENST00000340879.4_Intron|IP6K2_ENST00000436134.1_Intron|IP6K2_ENST00000453202.1_Silent_p.L72L|IP6K2_ENST00000413298.1_Intron|IP6K2_ENST00000432678.2_Intron|IP6K2_ENST00000417896.1_Silent_p.L72L|IP6K2_ENST00000328631.5_Intron|IP6K2_ENST00000450045.1_Intron	NM_001190316.1	NP_001177245.1	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	158					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						CCCTCCAGCAGCTGGGACTTA	0.597													A	48732511	G	A	48732511	2	1	364	1	0	0	0	0	0	0	0	1	7847	962	34	2		2	IP6K2	3	48732511	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15260	48732511	149289919	2956	26458											
SLC25A20	788	broad.mit.edu	37	chr3	48896032	48896032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagctccctcagcacatCtctgaaaccattaggatatt	12	11	6	12	0	3	1	2	1	1	0	5	3	4	2	2	1	3	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:48896032C>A	ENST00000319017.4	-	8	949	c.751G>T	c.(751-753)Gat>Tat	p.D251Y	SLC25A20_ENST00000430379.1_Missense_Mutation_p.D178Y|SLC25A20_ENST00000544097.1_Missense_Mutation_p.D201Y	NM_000387.5	NP_000378.1	O43772	MCAT_HUMAN	solute carrier family 25 (carnitine/acylcarnitine translocase), member 20	251					carnitine shuttle|cellular lipid metabolic process|regulation of fatty acid oxidation	integral to membrane|mitochondrial inner membrane	acyl carnitine transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000168)|Kidney(197;0.00231)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	L-Carnitine(DB00583)	CTCAGCACATCTCTGAAACCA	0.498													A	48896032	C	A	48896032	3	1	364	1	0	0	0	0	1	0	0	0	14577	913	32	4	162	4	SLC25A20	3	48896032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163521	48896032	149126398	2957	26459											
ARIH2	10425	broad.mit.edu	37	chr3	49004629	49004629	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaaggaaaacctactctcTctggcctgtcagcaccagtt	11	9	8	13	1	3	0	1	0	2	0	4	2	3	1	3	2	3	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49004629T>C	ENST00000356401.4	+	6	798	c.459T>C	c.(457-459)tcT>tcC	p.S153S	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Silent_p.S153S	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	153					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		ACCTACTCTCTCTGGCCTGTC	0.557													C	49004629	T	C	49004629	2	2	364	1	0	0	0	0	0	0	0	1	927	1538	54	3		3	ARIH2	3	49004629	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108597	49004629	149017801	2958	26460											
P4HTM	54681	broad.mit.edu	37	chr3	49043537	49043537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacctccgtgacacacggaGgcactgtgacaagggaaacc	12	4	13	12	2	0	2	0	2	0	0	1	5	1	5	3	4	1	1	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49043537G>A	ENST00000343546.4	+	8	1756	c.1388G>A	c.(1387-1389)aGg>aAg	p.R463K	P4HTM_ENST00000383729.4_Missense_Mutation_p.R402K	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	402						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	GACACACGGAGGCACTGTGAC	0.597													A	49043537	G	A	49043537	3	1	364	1	0	0	0	0	1	0	0	0	11436	1000	35	2	1418	2	P4HTM	3	49043537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38908	49043537	148978893	2959	26461											
P4HTM	54681	broad.mit.edu	37	chr3	49044189	49044189	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgcgcggcaccaagtggaTtgccaacaactggattaatg	12	7	11	11	3	0	0	0	0	0	0	0	2	0	2	2	3	3	1	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49044189T>A	ENST00000343546.4	+	9	1909	c.1541T>A	c.(1540-1542)aTt>aAt	p.I514N	P4HTM_ENST00000383729.4_Missense_Mutation_p.I453N	NM_177938.2	NP_808807.2	Q9NXG6	P4HTM_HUMAN	prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum)	453						endoplasmic reticulum membrane|integral to membrane	calcium ion binding|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21					Vitamin C(DB00126)	ACCAAGTGGATTGCCAACAAC	0.627													A	49044189	T	A	49044189	3	1	364	1	0	0	0	0	1	0	0	0	11436	1493	52	5	1575	5	P4HTM	3	49044189	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	652	49044189	148978241	2960	26462											
WDR6	11180	broad.mit.edu	37	chr3	49049221	49049221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttggaggccatggtggCtgtgtttggaagcaagggac	8	10	17	6	0	0	1	0	1	0	0	0	4	0	4	1	6	1	3	1	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49049221C>A	ENST00000395474.3	+	2	624	c.344C>A	c.(343-345)gCt>gAt	p.A115D	WDR6_ENST00000415265.2_Intron|WDR6_ENST00000448293.1_Missense_Mutation_p.A34D|WDR6_ENST00000608424.1_Missense_Mutation_p.A85D|WDR6_ENST00000489684.1_Intron	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	85					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GCCATGGTGGCTGTGTTTGGA	0.547													A	49049221	C	A	49049221	3	1	364	1	0	0	0	0	1	0	0	0	17412	797	28	4	350	4	WDR6	3	49049221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5032	49049221	148973209	2961	26463											
WDR6	11180	broad.mit.edu	37	chr3	49050759	49050759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actaccagctgtttgtacgaGacggccagctccagccagtc	9	8	10	14	2	0	1	0	0	0	1	2	2	1	1	4	1	5	4	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49050759G>A	ENST00000395474.3	+	2	2162	c.1882G>A	c.(1882-1884)Gac>Aac	p.D628N	WDR6_ENST00000415265.2_Missense_Mutation_p.D46N|WDR6_ENST00000448293.1_Missense_Mutation_p.D547N|WDR6_ENST00000608424.1_Missense_Mutation_p.D598N|WDR6_ENST00000489684.1_3'UTR	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	598					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GTTTGTACGAGACGGCCAGCT	0.577													A	49050759	G	A	49050759	3	1	364	1	0	0	0	0	1	0	0	0	17412	942	33	2	1888	2	WDR6	3	49050759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1538	49050759	148971671	2962	26464											
DALRD3	55152	broad.mit.edu	37	chr3	49054273	49054273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacagggccacagatgAggtgcttctgtcagaaagat	11	10	11	9	0	3	4	2	1	1	3	3	4	3	4	1	2	1	1	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49054273A>G	ENST00000440857.1	-	7	1136	c.434T>C	c.(433-435)cTc>cCc	p.L145P	DALRD3_ENST00000441576.2_Missense_Mutation_p.L312P|DALRD3_ENST00000341949.4_Missense_Mutation_p.L312P|DALRD3_ENST00000313778.5_Missense_Mutation_p.L145P|DALRD3_ENST00000395462.4_Missense_Mutation_p.L145P			Q5D0E6	DALD3_HUMAN	DALR anticodon binding domain containing 3	312					arginyl-tRNA aminoacylation	cytoplasm	arginine-tRNA ligase activity|ATP binding			breast(2)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCCACAGATGAGGTGCTTCTG	0.567													G	49054273	A	G	49054273	3	3	364	1	0	0	0	0	1	0	0	0	4263	304	11	3	724	3	DALRD3	3	49054273	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3514	49054273	148968157	2963	26465											
NDUFAF3	25915	broad.mit.edu	37	chr3	49059860	49059860	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctctctgctgcaacgcgaGgccgctcaggcaatgtacat	9	9	10	13	3	3	0	1	0	2	0	4	1	3	0	1	2	4	5	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49059860G>A	ENST00000326925.6	+	2	1293	c.159G>A	c.(157-159)gaG>gaA	p.E53E	NDUFAF3_ENST00000451378.2_5'UTR|NDUFAF3_ENST00000326912.4_5'UTR|NDUFAF3_ENST00000395458.2_5'UTR	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	53					mitochondrial respiratory chain complex I assembly	mitochondrial inner membrane|nucleus	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						TGCAACGCGAGGCCGCTCAGG	0.662													A	49059860	G	A	49059860	2	1	364	1	0	0	0	0	0	0	0	1	10352	991	35	2		2	NDUFAF3	3	49059860	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5587	49059860	148962570	2964	26466											
QARS	5859	broad.mit.edu	37	chr3	49141388	49141388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtccaaggggtgactccGcacatactcaagggcagctg	9	6	15	11	1	1	1	1	1	0	0	3	1	3	1	2	5	2	3	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49141388G>A	ENST00000306125.6	-	3	620	c.283C>T	c.(283-285)Cgg>Tgg	p.R95W	QARS_ENST00000414533.1_Missense_Mutation_p.R84W|QARS_ENST00000420147.2_Missense_Mutation_p.R113W			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	95					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	GGGTGACTCCGCACATACTCA	0.547													A	49141388	G	A	49141388	3	1	364	1	0	0	0	0	1	0	0	0	12959	1086	38	1	2132	1	QARS	3	49141388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81528	49141388	148881042	2965	26467											
USP19	10869	broad.mit.edu	37	chr3	49153548	49153548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgaaggcagatgtcgatgCgagaagccgtgaaacagaag	15	5	14	7	4	0	4	0	1	0	3	1	7	0	4	1	1	4	1	1	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49153548C>T	ENST00000453664.1	-	10	1691	c.1373G>A	c.(1372-1374)cGc>cAc	p.R458H	USP19_ENST00000398898.2_Missense_Mutation_p.R405H|USP19_ENST00000398888.2_Missense_Mutation_p.R367H|USP19_ENST00000398896.1_Missense_Mutation_p.R173H|USP19_ENST00000434032.2_Missense_Mutation_p.R468H|USP19_ENST00000417901.1_Missense_Mutation_p.R468H|USP19_ENST00000398892.3_Missense_Mutation_p.R405H	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	367					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		GATGTCGATGCGAGAAGCCGT	0.572													T	49153548	C	T	49153548	3	4	364	1	0	0	0	0	1	0	0	0	17152	768	27	1	2928	1	USP19	3	49153548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12160	49153548	148868882	2966	26468											
USP19	10869	broad.mit.edu	37	chr3	49154763	49154763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctggcaccgcagccccGgcaccagctcctgggtccct	4	7	10	20	2	1	0	0	0	1	0	4	0	3	0	7	3	2	4	7	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49154763G>A	ENST00000453664.1	-	6	926	c.608C>T	c.(607-609)cCg>cTg	p.P203L	USP19_ENST00000398898.2_Missense_Mutation_p.P150L|USP19_ENST00000398888.2_Intron|USP19_ENST00000398896.1_Intron|USP19_ENST00000434032.2_Missense_Mutation_p.P213L|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.P213L|USP19_ENST00000398892.3_Missense_Mutation_p.P150L	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	212					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCGCAGCCCCGGCACCAGCTC	0.612													A	49154763	G	A	49154763	3	1	364	1	0	0	0	0	1	0	0	0	17152	1131	39	1		1	USP19	3	49154763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1215	49154763	148867667	2967	26469											
USP19	10869	broad.mit.edu	37	chr3	49155466	49155466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggtggcgtgagcctgtgAtcccagctgcatgggaggct	6	9	16	10	2	0	2	0	2	0	0	1	3	1	3	2	4	4	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49155466A>G	ENST00000453664.1	-	3	530	c.212T>C	c.(211-213)aTc>aCc	p.I71T	USP19_ENST00000398898.2_Intron|USP19_ENST00000398888.2_Missense_Mutation_p.I71T|USP19_ENST00000434032.2_Missense_Mutation_p.I71T|USP19_ENST00000488993.1_5'UTR|USP19_ENST00000417901.1_Missense_Mutation_p.I71T|USP19_ENST00000398892.3_Intron	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	71					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		tgagcctgtgatcccagctgc	0.537													G	49155466	A	G	49155466	3	3	364	1	0	0	0	0	1	0	0	0	17152	333	12	3	3840	3	USP19	3	49155466	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	703	49155466	148866964	2968	26470											
LAMB2	3913	broad.mit.edu	37	chr3	49159017	49159017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgatcacccagaggaccGcgtagcagctgcagatgtag	11	7	12	11	2	1	3	1	1	0	2	1	4	1	4	2	1	4	5	2	1	3	3	rs151292828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49159017G>A	ENST00000418109.1	-	32	5273	c.5109C>T	c.(5107-5109)cgC>cgT	p.R1703R	LAMB2_ENST00000305544.4_Silent_p.R1703R	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	1703	Domain I.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		CCAGAGGACCGCGTAGCAGCT	0.607													A	49159017	G	A	49159017	2	1	364	1	0	0	0	0	0	0	0	1	8670	1074	38	1		1	LAMB2	3	49159017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3551	49159017	148863413	2969	26471											
LAMB2	3913	broad.mit.edu	37	chr3	49169107	49169107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggtacacatgccaggtgCggccaaagtctgctgagcgt	9	8	13	11	3	1	1	0	1	1	0	2	1	1	1	2	3	5	2	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49169107C>T	ENST00000418109.1	-	6	673	c.509G>A	c.(508-510)cGc>cAc	p.R170H	LAMB2_ENST00000305544.4_Missense_Mutation_p.R170H	NM_002292.3	NP_002283.3	P55268	LAMB2_HUMAN	laminin, beta 2 (laminin S)	170	Laminin N-terminal.				cell adhesion	laminin-11 complex|laminin-3 complex	structural molecule activity			NS(1)|breast(1)|endometrium(15)|kidney(3)|large_intestine(6)|lung(21)|ovary(4)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATGCCAGGTGCGGCCAAAGTC	0.592													T	49169107	C	T	49169107	3	4	364	1	0	0	0	0	1	0	0	0	8670	768	27	1	4999	1	LAMB2	3	49169107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10090	49169107	148853323	2970	26472											
KLHDC8B	200942	broad.mit.edu	37	chr3	49210220	49210220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatgtctgcaggaggtggCcgggcctttgcttggcaagt	6	10	15	10	1	1	0	0	0	1	0	1	1	1	1	3	5	2	3	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49210220C>T	ENST00000332780.2	+	2	227	c.18C>T	c.(16-18)ggC>ggT	p.G6G	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	6						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CAGGAGGTGGCCGGGCCTTTG	0.612													T	49210220	C	T	49210220	2	4	364	1	0	0	0	0	0	0	0	1	8421	726	26	2		2	KLHDC8B	3	49210220	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41113	49210220	148812210	2971	26473											
USP4	7375	broad.mit.edu	37	chr3	49365228	49365228	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcatcaattaagtgttctTtcaaggtctgactctcagga	11	15	7	8	0	6	1	4	1	3	0	7	2	6	2	0	2	0	1	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49365228T>G	ENST00000351842.4	-	3	259	c.251A>C	c.(250-252)aAa>aCa	p.K84T	USP4_ENST00000416417.1_Missense_Mutation_p.K84T|USP4_ENST00000265560.4_Missense_Mutation_p.K84T|USP4_ENST00000415188.1_Missense_Mutation_p.K84T	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	84	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTGTTCTTTCAAGGTCTG	0.413													G	49365228	T	G	49365228	3	3	364	1	0	0	0	0	1	0	0	0	17173	1841	64	5	2720	5	USP4	3	49365228	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155008	49365228	148657202	2972	26474											
RHOA	387	broad.mit.edu	37	chr3	49399938	49399938	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagatcatgcctgcttcatCttggctagctcccgccttgt	5	13	8	15	1	3	1	2	0	1	1	4	1	4	1	4	1	3	3	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49399938C>T	ENST00000418115.1	-	4	783	c.399G>A	c.(397-399)aaG>aaA	p.K133K	RHOA_ENST00000422781.1_Silent_p.K133K|RHOA_ENST00000454011.2_3'UTR	NM_001664.2	NP_001655.1	P61586	RHOA_HUMAN	ras homolog family member A	133					axon guidance|interspecies interaction between organisms|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of axonogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of neuron differentiation|positive regulation of NF-kappaB import into nucleus|positive regulation of stress fiber assembly|regulation of cell migration|regulation of small GTPase mediated signal transduction|Rho protein signal transduction|spindle assembly involved in mitosis	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity|myosin binding			cervix(1)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.58e-05)|Kidney(197;0.0023)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)	Atorvastatin(DB01076)|Simvastatin(DB00641)	CCTGCTTCATCTTGGCTAGCT	0.532													T	49399938	C	T	49399938	2	4	364	1	0	0	0	0	0	0	0	1	13420	912	32	2		2	RHOA	3	49399938	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34710	49399938	148622492	2973	26475											
NICN1	84276	broad.mit.edu	37	chr3	49462403	49462403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagcggccgatccttgcGgaggtgtgactggcccggat	7	8	15	11	4	1	1	1	1	0	0	2	4	2	3	3	5	2	0	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49462403G>A	ENST00000273598.3	-	5	665	c.579C>T	c.(577-579)tcC>tcT	p.S193S	NICN1_ENST00000422593.1_5'UTR|NICN1_ENST00000436744.2_Silent_p.S155S	NM_032316.3	NP_115692.1	Q9BSH3	NICN1_HUMAN	nicolin 1	193						microtubule|nucleus				kidney(1)|large_intestine(3)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.52e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CGATCCTTGCGGAGGTGTGAC	0.562													A	49462403	G	A	49462403	2	1	364	1	0	0	0	0	0	0	0	1	10489	1103	39	1		1	NICN1	3	49462403	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62465	49462403	148560027	2974	26476											
BSN	8927	broad.mit.edu	37	chr3	49689793	49689793	+	Missense_Mutation	SNP	A	A	C																															ccgtcgcttcaagaccattgAgctcaacagcacgggaagtt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689793A>C	ENST00000296452.4	+	5	2918	c.2804A>C	c.(2803-2805)gAg>gCg	p.E935A		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	935					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AAGACCATTGAGCTCAACAGC	0.622													C	49689793	A	C	49689793	3	2	364	1	0	0	0	0	1	0	0	0	1539	304	11	5	2822	5	BSN	3	49689793	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	227390	49689793	148332637	2975	26477	50	2									
BSN	8927	broad.mit.edu	37	chr3	49689802	49689802	+	Missense_Mutation	SNP	G	G	A																															caagaccattgagctcaacaGcacgggaagttatggtcatg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49689802G>A	ENST00000296452.4	+	5	2927	c.2813G>A	c.(2812-2814)aGc>aAc	p.S938N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	938					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GAGCTCAACAGCACGGGAAGT	0.622													A	49689802	G	A	49689802	3	1	364	1	0	0	0	0	1	0	0	0	1539	971	34	2	2831	2	BSN	3	49689802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	49689802	148332628	2976	26478	50	2									
BSN	8927	broad.mit.edu	37	chr3	49693336	49693336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagtatggtgggcggcatgGcagtggtggtggtggccctg	4	9	20	8	1	0	0	0	0	0	0	0	0	0	0	2	8	0	3	2	8	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49693336G>A	ENST00000296452.4	+	5	6461	c.6347G>A	c.(6346-6348)gGc>gAc	p.G2116D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2116					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGCGGCATGGCAGTGGTGGT	0.642													A	49693336	G	A	49693336	3	1	364	1	0	0	0	0	1	0	0	0	1539	1203	42	2	6365	2	BSN	3	49693336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3534	49693336	148329094	2977	26479											
BSN	8927	broad.mit.edu	37	chr3	49694644	49694644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgggaggccagccgtagtgGcatcaagaagcggcactcca	10	5	15	11	2	1	1	1	0	0	1	2	2	2	2	3	4	2	3	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694644G>A	ENST00000296452.4	+	5	7769	c.7655G>A	c.(7654-7656)gGc>gAc	p.G2552D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2552					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		AGCCGTAGTGGCATCAAGAAG	0.637													A	49694644	G	A	49694644	3	1	364	1	0	0	0	0	1	0	0	0	1539	1203	42	2	7673	2	BSN	3	49694644	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1308	49694644	148327786	2978	26480											
BSN	8927	broad.mit.edu	37	chr3	49694787	49694787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagccgctacctcttgagtCggcgacgccgggcacggcgg	6	5	16	14	7	1	2	0	1	1	1	2	3	1	2	3	4	2	2	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49694787C>T	ENST00000296452.4	+	5	7912	c.7798C>T	c.(7798-7800)Cgg>Tgg	p.R2600W		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2600	Poly-Arg.				synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CCTCTTGAGTCGGCGACGCCG	0.642													T	49694787	C	T	49694787	3	4	364	1	0	0	0	0	1	0	0	0	1539	875	31	1	7816	1	BSN	3	49694787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143	49694787	148327643	2979	26481											
BSN	8927	broad.mit.edu	37	chr3	49695448	49695448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgagaggctgaacaaagCtcacgtgagtccccagaagc	13	5	12	11	1	1	4	1	3	0	2	2	5	2	4	2	1	3	2	2	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49695448C>A	ENST00000296452.4	+	5	8573	c.8459C>A	c.(8458-8460)gCt>gAt	p.A2820D		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	2820					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTGAACAAAGCTCACGTGAGT	0.627													A	49695448	C	A	49695448	3	1	364	1	0	0	0	0	1	0	0	0	1539	797	28	4	8477	4	BSN	3	49695448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	49695448	148326982	2980	26482											
BSN	8927	broad.mit.edu	37	chr3	49699822	49699822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcctttggggaggccccGccctgccggagggcccctcc	3	6	14	18	2	0	0	0	0	0	0	2	2	2	2	8	5	1	0	8	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49699822G>A	ENST00000296452.4	+	6	10658	c.10544G>A	c.(10543-10545)cGc>cAc	p.R3515H		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3515					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GGGAGGCCCCGCCCTGCCGGA	0.662													A	49699822	G	A	49699822	3	1	364	1	0	0	0	0	1	0	0	0	1539	1087	38	1	10566	1	BSN	3	49699822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4374	49699822	148322608	2981	26483											
APEH	327	broad.mit.edu	37	chr3	49720671	49720671	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgactaatccctacaggCtcctgctctatcccaaaagc	10	10	6	15	0	1	1	0	1	1	0	4	1	4	1	3	1	4	3	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49720671C>A	ENST00000296456.5	+	22	2495	c.2095C>A	c.(2095-2097)Ctc>Atc	p.L699I	APEH_ENST00000438011.1_Splice_Site_p.L704I	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase	699					proteolysis	cytoplasm|nuclear membrane	serine-type endopeptidase activity	p.L699F(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCCCTACAGGCTCCTGCTCTA	0.562													A	49720671	C	A	49720671	5	1	364	1	0	0	0	0	0	0	1	0	770	811	28	4	2181	4	APEH	3	49720671	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20849	49720671	148301759	2982	26484											
MST1	4485	broad.mit.edu	37	chr3	49721811	49721811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactctcccgcacacgtcctCggtgcttgatgttacactcc	6	11	7	17	3	1	1	0	1	1	0	5	1	3	1	3	1	2	3	3	1	1	2	rs138155786		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49721811C>T	ENST00000449682.2	-	17	2313	c.1952G>A	c.(1951-1953)cGa>cAa	p.R651Q		NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	637	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CACACGTCCTCGGTGCTTGAT	0.597													T	49721811	C	T	49721811	3	4	364	1	0	0	0	0	1	0	0	0	9966	884	31	1	233	1	MST1	3	49721811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1140	49721811	148300619	2983	26485											
MST1	4485	broad.mit.edu	37	chr3	49725255	49725255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcctcctgccaaggcccgGgcaccaccgcatgtagcagg	8	5	11	17	2	0	0	0	0	0	0	2	0	2	0	6	3	2	4	6	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49725255G>A	ENST00000449682.2	-	2	531	c.170C>T	c.(169-171)cCc>cTc	p.P57L	MST1_ENST00000494828.2_Intron|MST1_ENST00000383728.3_Intron|MST1_ENST00000545762.1_Missense_Mutation_p.P43L	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	43	PAN.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCAAGGCCCGGGCACCACCGC	0.612													A	49725255	G	A	49725255	3	1	364	1	0	0	0	0	1	0	0	0	9966	1232	43	2	2075	2	MST1	3	49725255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3444	49725255	148297175	2984	26486											
RNF123	63891	broad.mit.edu	37	chr3	49751542	49751542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgtggcttcgggtaccGctatacacggctgccacatc	6	9	13	13	3	0	0	0	0	0	0	2	0	0	0	2	4	3	5	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49751542G>A	ENST00000327697.6	+	31	3089	c.2945G>A	c.(2944-2946)cGc>cAc	p.R982H	RNF123_ENST00000433785.1_Missense_Mutation_p.R94H	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	982						cytoplasm	ligase activity|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		TTCGGGTACCGCTATACACGG	0.617													A	49751542	G	A	49751542	3	1	364	1	0	0	0	0	1	0	0	0	13524	1087	38	1	3063	1	RNF123	3	49751542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26287	49751542	148270888	2985	26487											
AMIGO3	386724	broad.mit.edu	37	chr3	49755598	49755598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtgtggtgctgagtactGaggactgtgcgctcagctct	5	11	16	9	2	2	2	1	2	1	0	2	3	2	3	0	3	4	4	0	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49755598G>A	ENST00000535833.1	-	10	4751	c.1301C>T	c.(1300-1302)tCa>tTa	p.S434L	RNF123_ENST00000327697.6_Intron|RNF123_ENST00000497099.1_3'UTR|RNF123_ENST00000433785.1_Intron|AMIGO3_ENST00000320431.7_Missense_Mutation_p.S434L|GMPPB_ENST00000480687.1_3'UTR			Q86WK7	AMGO3_HUMAN	adhesion molecule with Ig-like domain 3	434					heterophilic cell-cell adhesion	integral to membrane				endometrium(1)|pancreas(1)|prostate(2)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCTGAGTACTGAGGACTGTGC	0.692													A	49755598	G	A	49755598	3	1	364	1	0	0	0	0	1	0	0	0	577	1294	45	2	217	2	AMIGO3	3	49755598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4056	49755598	148266832	2986	26488											
GMPPB	29925	broad.mit.edu	37	chr3	49760894	49760894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcacggccaggatcacgtgGtccacgcctgcctgtcagaa	8	7	11	15	3	3	1	3	0	0	1	4	2	4	2	4	3	1	0	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49760894G>A	ENST00000480687.1	-	3	257	c.141C>T	c.(139-141)gaC>gaT	p.D47D	GMPPB_ENST00000308375.6_Silent_p.D47D|GMPPB_ENST00000308388.6_Silent_p.D47D|AMIGO3_ENST00000535833.1_5'UTR			Q9Y5P6	GMPPB_HUMAN	GDP-mannose pyrophosphorylase B	47					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GGATCACGTGGTCCACGCCTG	0.627													A	49760894	G	A	49760894	2	1	364	1	0	0	0	0	0	0	0	1	6551	1252	44	2		2	GMPPB	3	49760894	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5296	49760894	148261536	2987	26489											
IP6K1	9807	broad.mit.edu	37	chr3	49785313	49785313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgtaaaagcgctgttccCgggagatgaggggcttgcac	9	8	14	10	3	0	2	0	1	0	1	2	3	1	2	1	3	2	5	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49785313C>T	ENST00000321599.4	-	2	462	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	IP6K1_ENST00000460540.1_Intron|IP6K1_ENST00000468463.1_Missense_Mutation_p.R54Q|IP6K1_ENST00000395238.1_Intron	NM_001242829.1|NM_153273.3	NP_001229758.1|NP_695005.1	Q92551	IP6K1_HUMAN	inositol hexakisphosphate kinase 1	54					phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|skin(2)	15						GCGCTGTTCCCGGGAGATGAG	0.557													T	49785313	C	T	49785313	3	4	364	1	0	0	0	0	1	0	0	0	7846	652	23	1	1184	1	IP6K1	3	49785313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24419	49785313	148237117	2988	26490											
UBA7	7318	broad.mit.edu	37	chr3	49847552	49847552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtagcactgccccaggtGcccgatgtgcctgcctccag	6	8	11	16	1	0	0	0	0	0	0	1	1	1	0	6	1	5	2	6	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847552G>A	ENST00000333486.3	-	14	1856	c.1698C>T	c.(1696-1698)ggC>ggT	p.G566G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	566	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGCCCCAGGTGCCCGATGTGC	0.607													A	49847552	G	A	49847552	2	1	364	1	0	0	0	0	0	0	0	1	16935	1306	46	2		2	UBA7	3	49847552	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62239	49847552	148174878	2989	26491											
UBA7	7318	broad.mit.edu	37	chr3	49847823	49847823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctgtaagtctgggttcagGccccgggcagctgctgcagc	6	8	14	13	1	2	0	1	0	1	0	2	0	2	0	3	3	4	6	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49847823G>A	ENST00000333486.3	-	13	1664	c.1506C>T	c.(1504-1506)ggC>ggT	p.G502G		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	502	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGGTTCAGGCCCCGGGCAG	0.587													A	49847823	G	A	49847823	2	1	364	1	0	0	0	0	0	0	0	1	16935	1190	42	2		2	UBA7	3	49847823	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271	49847823	148174607	2990	26492											
UBA7	7318	broad.mit.edu	37	chr3	49848098	49848098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacaaccaatggcaccaGcgcccacctgttggcaggaa	11	5	10	15	1	1	0	1	0	0	0	1	1	1	1	4	3	2	4	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49848098G>A	ENST00000333486.3	-	12	1477	c.1319C>T	c.(1318-1320)gCt>gTt	p.A440V		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	440	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		AATGGCACCAGCGCCCACCTG	0.612													A	49848098	G	A	49848098	3	1	364	1	0	0	0	0	1	0	0	0	16935	971	34	2	1771	2	UBA7	3	49848098	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275	49848098	148174332	2991	26493											
UBA7	7318	broad.mit.edu	37	chr3	49849917	49849917	+	Silent	SNP	T	T	A																															cccgagaaagtcaccaagtcTccatcacggaagtagtgggt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849917T>A	ENST00000333486.3	-	6	776	c.618A>T	c.(616-618)ggA>ggT	p.G206G	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TCACCAAGTCTCCATCACGGA	0.567													A	49849917	T	A	49849917	2	1	364	1	0	0	0	0	0	0	0	1	16935	1538	54	5		5	UBA7	3	49849917	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1819	49849917	148172513	2992	26494	51	2									
UBA7	7318	broad.mit.edu	37	chr3	49849918	49849918	+	Missense_Mutation	SNP	C	C	A																															ccgagaaagtcaccaagtctCcatcacggaagtagtgggta																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49849918C>A	ENST00000333486.3	-	6	775	c.617G>T	c.(616-618)gGa>gTa	p.G206V	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	206	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CACCAAGTCTCCATCACGGAA	0.567													A	49849918	C	A	49849918	3	1	364	1	0	0	0	0	1	0	0	0	16935	855	30	4	2497	4	UBA7	3	49849918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	49849918	148172512	2993	26495	51	2									
UBA7	7318	broad.mit.edu	37	chr3	49850778	49850778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagctcttgagaggcctcGgctctgctcctttccaagtc	7	11	10	13	1	2	2	0	1	2	2	6	3	4	2	3	2	2	3	3	2	2	2	rs144077688	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49850778G>A	ENST00000333486.3	-	3	422	c.264C>T	c.(262-264)gcC>gcT	p.A88A	UBA7_ENST00000494212.1_5'UTR	NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	88	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GAGAGGCCTCGGCTCTGCTCC	0.587													A	49850778	G	A	49850778	2	1	364	1	0	0	0	0	0	0	0	1	16935	1103	39	1		1	UBA7	3	49850778	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	860	49850778	148171652	2994	26496											
TRAIP	10293	broad.mit.edu	37	chr3	49869458	49869458	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatcaatatcatcacggaAggatggccggcggagcttca	12	7	13	9	3	4	1	4	0	0	1	4	5	4	4	1	5	1	1	1	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49869458A>G	ENST00000331456.2	-	11	1041	c.928T>C	c.(928-930)Ttc>Ctc	p.F310L	TRAIP_ENST00000469027.1_Missense_Mutation_p.F155L	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	310	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCATCACGGAAGGATGGCCGG	0.552													G	49869458	A	G	49869458	3	3	364	1	0	0	0	0	1	0	0	0	16549	72	3	3	501	3	TRAIP	3	49869458	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18680	49869458	148152972	2995	26497											
TRAIP	10293	broad.mit.edu	37	chr3	49879910	49879910	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggtcttcatcttgctcCtgagccggcgggcctcctct	3	12	10	16	2	4	1	1	1	3	0	6	1	6	1	5	3	2	1	5	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49879910C>A	ENST00000331456.2	-	6	592	c.479G>T	c.(478-480)aGg>aTg	p.R160M	TRAIP_ENST00000469027.1_Intron	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	160					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CATCTTGCTCCTGAGCCGGCG	0.547													A	49879910	C	A	49879910	3	1	364	1	0	0	0	0	1	0	0	0	16549	681	24	4	970	4	TRAIP	3	49879910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10452	49879910	148142520	2996	26498											
CAMKV	79012	broad.mit.edu	37	chr3	49896835	49896835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagcctggcctgtggcGccctctggggctgtgctgtc	1	10	18	12	1	1	0	0	0	1	0	2	1	1	1	3	6	2	2	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49896835G>A	ENST00000463537.1	-	11	1404	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	CAMKV_ENST00000466940.1_Silent_p.G400G|CAMKV_ENST00000488336.1_Silent_p.G443G|CAMKV_ENST00000467248.1_Silent_p.G399G|CAMKV_ENST00000296471.7_Silent_p.G446G|CAMKV_ENST00000477224.1_Silent_p.G474G	NM_024046.3	NP_076951.2	Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	0	Ala-rich.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		GGCCTGTGGCGCCCTCTGGGG	0.652													A	49896835	G	A	49896835	3	1	364	1	0	0	0	0	1	0	0	0	2634	1074	38	1	87	1	CAMKV	3	49896835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16925	49896835	148125595	2997	26499											
CAMKV	79012	broad.mit.edu	37	chr3	49898709	49898709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcttcgagttcttcagccGgttgtagtaaaccaggttct	9	14	9	9	2	4	0	1	0	3	0	5	1	4	0	2	2	2	5	2	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49898709G>A	ENST00000477224.1	-	6	944	c.466C>T	c.(466-468)Cgg>Tgg	p.R156W	CAMKV_ENST00000466940.1_Missense_Mutation_p.R113W|CAMKV_ENST00000488336.1_Missense_Mutation_p.R156W|CAMKV_ENST00000467248.1_Missense_Mutation_p.R81W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R156W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R156W			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	156	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TTCTTCAGCCGGTTGTAGTAA	0.527													A	49898709	G	A	49898709	3	1	364	1	0	0	0	0	1	0	0	0	2634	1115	39	1	1063	1	CAMKV	3	49898709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1874	49898709	148123721	2998	26500											
MST1R	4486	broad.mit.edu	37	chr3	49932714	49932714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctggatggactctttccGcagcagtggcacacaggatt	9	10	12	10	1	1	0	0	0	1	0	2	3	2	3	1	4	2	4	1	4	1	3	rs144584611		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49932714G>A	ENST00000296474.3	-	14	3184	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	MST1R_ENST00000344206.4_Missense_Mutation_p.R1004W	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	1053					cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACTCTTTCCGCAGCAGTGGC	0.567													A	49932714	G	A	49932714	3	1	364	1	0	0	0	0	1	0	0	0	9967	1086	38	1	1073	1	MST1R	3	49932714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34005	49932714	148089716	2999	26501											
MST1R	4486	broad.mit.edu	37	chr3	49935547	49935547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcccacagtgacctgatggGttccctcaggcaccagacca	9	6	11	15	0	1	3	1	2	0	1	2	3	2	3	5	3	0	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49935547G>A	ENST00000296474.3	-	5	1844	c.1817C>T	c.(1816-1818)aCc>aTc	p.T606I	MST1R_ENST00000344206.4_Missense_Mutation_p.T606I	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	606	IPT/TIG 1.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		GACCTGATGGGTTCCCTCAGG	0.592													A	49935547	G	A	49935547	3	1	364	1	0	0	0	0	1	0	0	0	9967	1261	44	2	2449	2	MST1R	3	49935547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2833	49935547	148086883	3000	26502											
MST1R	4486	broad.mit.edu	37	chr3	49940860	49940860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcatttctgtcgccctcGtaggtcaccatggcctgtac	5	13	8	15	2	3	0	2	0	2	0	6	0	3	0	3	2	1	2	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:49940860G>A	ENST00000296474.3	-	1	210	c.183C>T	c.(181-183)taC>taT	p.Y61Y	MST1R_ENST00000344206.4_Silent_p.Y61Y|CTD-2330K9.2_ENST00000435478.1_RNA	NM_002447.2	NP_002438	Q04912	RON_HUMAN	macrophage stimulating 1 receptor (c-met-related tyrosine kinase)	61	Sema.				cellular component movement|defense response|multicellular organismal development|positive regulation of cell proliferation|single fertilization|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|macrophage colony-stimulating factor receptor activity|protein binding			cervix(1)|endometrium(5)|large_intestine(3)|lung(17)|ovary(5)|prostate(2)|skin(1)|urinary_tract(3)	37				BRCA - Breast invasive adenocarcinoma(193;4.65e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00553)|Kidney(197;0.00625)		TGTCGCCCTCGTAGGTCACCA	0.627													A	49940860	G	A	49940860	2	1	364	1	0	0	0	0	0	0	0	1	9967	1140	40	1		1	MST1R	3	49940860	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5313	49940860	148081570	3001	26503											
RBM6	10180	broad.mit.edu	37	chr3	50005101	50005101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggagctagagacggaccGcatggtgactatcgaggagg	11	7	16	7	3	0	2	0	1	0	1	1	7	0	5	1	5	1	2	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005101G>A	ENST00000266022.4	+	3	502	c.243G>A	c.(241-243)ccG>ccA	p.P81P	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000443081.1_5'UTR|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron	NM_005777.2	NP_005768.1	P78332	RBM6_HUMAN	RNA binding motif protein 6	81					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		GAGACGGACCGCATGGTGACT	0.507													A	50005101	G	A	50005101	2	1	364	1	0	0	0	0	0	0	0	1	13232	1074	38	1		1	RBM6	3	50005101	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64241	50005101	148017329	3002	26504											
RBM6	10180	broad.mit.edu	37	chr3	50005258	50005258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atagagaaggaccacctatgGactataggggtggagatggt	13	8	15	5	0	0	2	0	0	0	2	0	6	0	4	2	6	0	0	2	6	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50005258G>T	ENST00000443081.1	+	3	923	c.4G>T	c.(4-6)Gac>Tac	p.D2Y	RBM6_ENST00000441115.1_Intron|RBM6_ENST00000539992.1_Intron|RBM6_ENST00000442092.1_Intron|RBM6_ENST00000422955.1_Intron|RBM6_ENST00000266022.4_Missense_Mutation_p.D134Y			P78332	RBM6_HUMAN	RNA binding motif protein 6	134					RNA processing	nucleus	DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|skin(4)|urinary_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;6.81e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0084)|Kidney(197;0.00977)		ACCACCTATGGACTATAGGGG	0.478													T	50005258	G	T	50005258	3	4	364	1	0	0	0	0	1	0	0	0	13232	1174	41	4	406	4	RBM6	3	50005258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157	50005258	148017172	3003	26505											
SEMA3F	6405	broad.mit.edu	37	chr3	50220121	50220121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattcctgacagtgcggagCgcaatgatgataagctttac	11	11	10	9	2	1	3	1	3	0	0	2	4	2	4	1	1	4	2	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50220121C>T	ENST00000002829.3	+	9	1292	c.808C>T	c.(808-810)Cgc>Tgc	p.R270C	SEMA3F_ENST00000434342.1_Missense_Mutation_p.R239C|SEMA3F_ENST00000413852.1_Missense_Mutation_p.R171C	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	270	Sema.			Missing (in Ref. 2; AAB18276).	axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAGTGCGGAGCGCAATGATGA	0.612													T	50220121	C	T	50220121	3	4	364	1	0	0	0	0	1	0	0	0	14122	768	27	1	838	1	SEMA3F	3	50220121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214863	50220121	147802309	3004	26506											
SLC38A3	10991	broad.mit.edu	37	chr3	50252882	50252882	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgctactcaagtcctcaGgggtcgtgggtgagcctcac	7	9	12	13	1	3	1	3	1	0	0	5	1	4	1	3	3	3	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50252882G>T	ENST00000420502.1	+	0	517							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CAAGTCCTCAGGGGTCGTGGG	0.587													T	50252882	G	T	50252882	1	4	364	0	1	0	0	0	0	0	0	0	14699	1000	35	4		4	SLC38A3	3	50252882	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32761	50252882	147769548	3005	26507											
SLC38A3	10991	broad.mit.edu	37	chr3	50253068	50253068	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctccagaacatcggaGgtaagagcagtgggcagggg	11	5	16	9	2	1	2	1	0	0	2	3	3	2	3	1	5	2	4	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50253068G>T	ENST00000420502.1	+	0	619							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	GAACATCGGAGGTAAGAGCAG	0.657													T	50253068	G	T	50253068	1	4	364	0	1	0	0	0	0	0	0	0	14699	1014	35	4		4	SLC38A3	3	50253068	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186	50253068	147769362	3006	26508											
GNAI2	2771	broad.mit.edu	37	chr3	50293708	50293708	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggacccgcgtaaagaccacGgggatcgtggagacacactt	11	5	13	12	5	0	2	0	0	0	2	1	5	0	4	2	4	0	1	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50293708G>A	ENST00000313601.6	+	5	933	c.549G>A	c.(547-549)acG>acA	p.T183T	GNAI2_ENST00000536647.1_Silent_p.T102T|GNAI2_ENST00000422163.1_Silent_p.T167T|GNAI2_ENST00000451956.1_Silent_p.T146T|GNAI2_ENST00000440628.1_Silent_p.T131T|GNAI2_ENST00000266027.5_Silent_p.T167T|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	183					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TAAAGACCACGGGGATCGTGG	0.592													A	50293708	G	A	50293708	2	1	364	1	0	0	0	0	0	0	0	1	6561	1103	39	1		1	GNAI2	3	50293708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40640	50293708	147728722	3007	26509											
GNAI2	2771	broad.mit.edu	37	chr3	50294242	50294242	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcatcttctgcgtagcCttgagcgcctatgacttggt	6	13	10	12	2	3	2	1	2	2	0	3	2	3	2	3	1	3	1	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50294242C>A	ENST00000313601.6	+	6	1065	c.681C>A	c.(679-681)gcC>gcA	p.A227A	GNAI2_ENST00000536647.1_Silent_p.A146A|GNAI2_ENST00000422163.1_Silent_p.A211A|GNAI2_ENST00000451956.1_Silent_p.A190A|GNAI2_ENST00000440628.1_Silent_p.A175A|GNAI2_ENST00000266027.5_Silent_p.A211A|GNAI2_ENST00000491100.1_3'UTR	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	227					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		TCTGCGTAGCCTTGAGCGCCT	0.572													A	50294242	C	A	50294242	2	1	364	1	0	0	0	0	0	0	0	1	6561	668	24	4		4	GNAI2	3	50294242	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	534	50294242	147728188	3008	26510											
RASSF1	11186	broad.mit.edu	37	chr3	50368872	50368872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatcatccaacagcttccGcaagtacactgtgaagggga	12	8	9	12	1	2	1	2	1	0	0	4	2	4	2	2	2	3	3	2	2	4	2	rs146926693		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50368872G>A	ENST00000359365.4	-	5	875	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RASSF1_ENST00000357043.2_Missense_Mutation_p.R261W|RASSF1_ENST00000395126.3_Missense_Mutation_p.R106W|RASSF1_ENST00000327761.3_Missense_Mutation_p.R187W	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	261	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		AACAGCTTCCGCAAGTACACT	0.582													A	50368872	G	A	50368872	3	1	364	1	0	0	0	0	1	0	0	0	13172	1086	38	1	261	1	RASSF1	3	50368872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74630	50368872	147653558	3009	26511											
ZMYND10	51364	broad.mit.edu	37	chr3	50379074	50379074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcactgcagtaagcacagCggggccgctctggagccact	8	6	13	14	2	1	0	0	0	1	0	1	1	1	1	2	3	5	5	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50379074C>T	ENST00000231749.3	-	11	2450	c.1178G>A	c.(1177-1179)cGc>cAc	p.R393H	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.R388H|ZMYND10_ENST00000490675.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	393						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAAGCACAGCGGGGCCGCTC	0.587										TSP Lung(30;0.18)			T	50379074	C	T	50379074	3	4	364	1	0	0	0	0	1	0	0	0	17806	768	27	1	152	1	ZMYND10	3	50379074	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10202	50379074	147643356	3010	26512											
ZMYND10	51364	broad.mit.edu	37	chr3	50381223	50381223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccaccctgcagaacacaGggaacaccttctgcttccac	10	7	6	18	0	1	1	0	0	1	1	3	2	3	2	5	1	4	2	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50381223G>T	ENST00000231749.3	-	3	1532	c.260C>A	c.(259-261)cCt>cAt	p.P87H	ZMYND10-AS1_ENST00000440013.1_RNA|ZMYND10_ENST00000360165.3_Missense_Mutation_p.P87H	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	87						cytoplasm	protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGAACACAGGGAACACCTT	0.557										TSP Lung(30;0.18)			T	50381223	G	T	50381223	3	4	364	1	0	0	0	0	1	0	0	0	17806	1000	35	4	1102	4	ZMYND10	3	50381223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2149	50381223	147641207	3011	26513											
NPRL2	10641	broad.mit.edu	37	chr3	50385824	50385824	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctggaccttgggcgttggGcagtatacattggagtacta	8	12	13	8	1	0	0	0	0	0	0	1	2	1	2	2	4	2	4	2	4	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50385824G>T	ENST00000232501.3	-	8	1176	c.738C>A	c.(736-738)tgC>tgA	p.C246*	NPRL2_ENST00000493465.1_Intron	NM_006545.4	NP_006536.3	Q8WTW4	NPRL2_HUMAN	nitrogen permease regulator-like 2 (S. cerevisiae)	246					negative regulation of kinase activity		protein binding|protein kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	11						TGGGCGTTGGGCAGTATACAT	0.567													T	50385824	G	T	50385824	4	4	364	1	0	0	0	0	0	1	0	0	10673	1195	42	4	420	4	NPRL2	3	50385824	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4601	50385824	147636606	3012	26514											
CYB561D2	11068	broad.mit.edu	37	chr3	50391089	50391089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggtgcagcctggtacctgGctgtattatgccctgtcctc	4	13	11	13	0	0	0	0	0	0	0	2	0	1	0	4	3	4	4	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50391089G>T	ENST00000418577.1	+	3	1159	c.583G>T	c.(583-585)Gct>Tct	p.A195S	CYB561D2_ENST00000424512.1_Missense_Mutation_p.A195S|XXcos-LUCA11.5_ENST00000606589.1_Intron|CYB561D2_ENST00000425346.1_Missense_Mutation_p.A195S|CYB561D2_ENST00000232508.5_Missense_Mutation_p.A195S			O14569	C56D2_HUMAN	cytochrome b561 family, member D2	195	Cytochrome b561.				electron transport chain|transport	integral to membrane	metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CTGGTACCTGGCTGTATTATG	0.562													T	50391089	G	T	50391089	3	4	364	1	0	0	0	0	1	0	0	0	4154	1203	42	4	593	4	CYB561D2	3	50391089	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5265	50391089	147631341	3013	26515											
CACNA2D2	9254	broad.mit.edu	37	chr3	50405102	50405102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactcgggtgatgccaccGtctgtggcagcgaacacggc	9	6	14	12	4	1	2	0	1	1	1	2	3	1	2	2	3	3	1	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	XXcos-LUCA11.5_ENST00000606589.1_Intron|CACNA2D2_ENST00000360963.3_Silent_p.D687D|XXcos-LUCA11.4_ENST00000606259.1_RNA|CACNA2D2_ENST00000423994.2_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000395083.1_Silent_p.D756D|XXcos-LUCA11.4_ENST00000606665.1_RNA|XXcos-LUCA11.4_ENST00000607362.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000479441.1_Silent_p.D763D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642													A	50405102	G	A	50405102	2	1	364	1	0	0	0	0	0	0	0	1	2575	1136	40	1		1	CACNA2D2	3	50405102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14013	50405102	147617328	3014	26516											
CACNA2D2	9254	broad.mit.edu	37	chr3	50417156	50417156	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaccttggcactcacCgaggccacattcacatagtc	9	9	7	16	1	3	0	2	0	1	0	4	1	3	0	4	2	1	1	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50417156C>T	ENST00000435965.1	-	10	1166	c.993G>A	c.(991-993)tcG>tcA	p.S331S	CACNA2D2_ENST00000360963.3_Splice_Site_p.S262S|CACNA2D2_ENST00000423994.2_Splice_Site_p.S331S|CACNA2D2_ENST00000395083.1_Splice_Site_p.S331S|CACNA2D2_ENST00000429770.1_Splice_Site_p.S331S|CACNA2D2_ENST00000266039.3_Splice_Site_p.S331S|CACNA2D2_ENST00000424201.2_Splice_Site_p.S331S|CACNA2D2_ENST00000479441.1_Splice_Site_p.S331S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	331	VWFA.				energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGGCACTCACCGAGGCCACAT	0.592													T	50417156	C	T	50417156	5	4	364	1	0	0	0	0	0	0	1	0	2575	666	23	1	2585	1	CACNA2D2	3	50417156	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12054	50417156	147605274	3015	26517											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50677823	50677823	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatgacagccccaaggcccgGcaggaggtagaccatcactg	11	5	12	13	1	1	2	1	1	0	1	1	3	1	3	4	4	1	2	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50677823G>A	ENST00000446044.1	+	5	842	c.246G>A	c.(244-246)cgG>cgA	p.R82R	MAPKAPK3_ENST00000357955.2_Silent_p.R82R	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	82	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CCAAGGCCCGGCAGGAGGTAG	0.532													A	50677823	G	A	50677823	2	1	364	1	0	0	0	0	0	0	0	1	9365	1190	42	2		2	MAPKAPK3	3	50677823	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260667	50677823	147344607	3016	26518											
MAPKAPK3	7867	broad.mit.edu	37	chr3	50683654	50683654	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggattcgcctgggccagtAcggcttccccaatcctgagt	7	9	12	13	2	0	1	0	1	0	0	3	3	2	2	5	3	1	2	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:50683654A>G	ENST00000446044.1	+	10	1384	c.788A>G	c.(787-789)tAc>tGc	p.Y263C	MAPKAPK3_ENST00000357955.2_Missense_Mutation_p.Y263C	NM_001243926.1	NP_001230855.1	Q16644	MAPK3_HUMAN	mitogen-activated protein kinase-activated protein kinase 3	263	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein serine/threonine kinase activity			central_nervous_system(1)|ovary(1)	2				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.0188)|Kidney(197;0.0223)		CTGGGCCAGTACGGCTTCCCC	0.607													G	50683654	A	G	50683654	3	3	364	1	0	0	0	0	1	0	0	0	9365	391	14	3	814	3	MAPKAPK3	3	50683654	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5831	50683654	147338776	3017	26519											
DOCK3	1795	broad.mit.edu	37	chr3	51127792	51127792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttttccttatatgaCatgagggaaggcaagcagat	11	13	10	7	0	2	3	0	2	2	1	3	4	3	4	1	2	1	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51127792C>T	ENST00000266037.9	+	9	746	c.723C>T	c.(721-723)gaC>gaT	p.D241D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	241						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCTTATATGACATGAGGGAAG	0.458													T	51127792	C	T	51127792	2	4	364	1	0	0	0	0	0	0	0	1	4727	477	17	2		2	DOCK3	3	51127792	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444138	51127792	146894638	3018	26520											
DOCK3	1795	broad.mit.edu	37	chr3	51263172	51263172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatattgaagtgaccatgTatgtgctttatgcagatgga	13	13	11	4	0	0	4	0	2	0	2	0	5	0	5	1	1	2	3	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51263172T>C	ENST00000266037.9	+	15	1368	c.1345T>C	c.(1345-1347)Tat>Cat	p.Y449H		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	449	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		AGTGACCATGTATGTGCTTTA	0.443													C	51263172	T	C	51263172	3	2	364	1	0	0	0	0	1	0	0	0	4727	1638	57	3	1403	3	DOCK3	3	51263172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135380	51263172	146759258	3019	26521											
DOCK3	1795	broad.mit.edu	37	chr3	51264830	51264830	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattgcctatccccattgaCcggttccggggctcccacct	7	10	8	16	2	0	1	0	1	0	0	3	1	3	1	7	3	1	2	7	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51264830C>T	ENST00000266037.9	+	16	1517	c.1494C>T	c.(1492-1494)gaC>gaT	p.D498D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	498	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		TCCCCATTGACCGGTTCCGGG	0.483													T	51264830	C	T	51264830	2	4	364	1	0	0	0	0	0	0	0	1	4727	506	18	2		2	DOCK3	3	51264830	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1658	51264830	146757600	3020	26522											
DOCK3	1795	broad.mit.edu	37	chr3	51395449	51395449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttgtgcacccagaaatgCggcctctgcataagaagcta	12	9	10	10	1	1	2	0	0	1	2	1	2	1	2	2	1	4	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51395449C>T	ENST00000266037.9	+	46	4848	c.4825C>T	c.(4825-4827)Cgg>Tgg	p.R1609W		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1609	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CCCAGAAATGCGGCCTCTGCA	0.498													T	51395449	C	T	51395449	3	4	364	1	0	0	0	0	1	0	0	0	4727	759	27	1	5007	1	DOCK3	3	51395449	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130619	51395449	146626981	3021	26523											
RAD54L2	23132	broad.mit.edu	37	chr3	51667724	51667724	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcaagtgatctctttcatCgacgtcctcttccgccacac	7	13	6	15	3	3	1	1	1	2	0	7	2	5	1	3	0	1	1	3	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51667724C>T	ENST00000409535.2	+	7	1082	c.957C>T	c.(955-957)atC>atT	p.I319I	RAD54L2_ENST00000296477.3_Silent_p.I13I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)		Helicase ATP-binding.					nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TCTCTTTCATCGACGTCCTCT	0.517													T	51667724	C	T	51667724	2	4	364	1	0	0	0	0	0	0	0	1	13082	874	31	1		1	RAD54L2	3	51667724	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272275	51667724	146354706	3022	26524											
RAD54L2	23132	broad.mit.edu	37	chr3	51697257	51697257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtcttgcccagcaacCtttcgcggggcatgtctatc	5	11	9	16	2	2	0	0	0	2	0	4	0	2	0	4	2	3	2	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51697257C>A	ENST00000409535.2	+	22	4350	c.4225C>A	c.(4225-4227)Ctt>Att	p.L1409I	RAD54L2_ENST00000296477.3_Missense_Mutation_p.L1103I	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		GCCCAGCAACCTTTCGCGGGG	0.577													A	51697257	C	A	51697257	3	1	364	1	0	0	0	0	1	0	0	0	13082	681	24	4	4307	4	RAD54L2	3	51697257	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29533	51697257	146325173	3023	26525											
TEX264	51368	broad.mit.edu	37	chr3	51733425	51733425	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccactctctgactaggagCggaagctgtgtgcctatcct	7	11	11	12	1	1	1	0	1	1	0	3	3	2	3	3	2	4	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51733425C>T	ENST00000415259.1	+	4	1565	c.484C>T	c.(484-486)Cgg>Tgg	p.R162W	TEX264_ENST00000416589.1_Missense_Mutation_p.R162W|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000395057.1_Missense_Mutation_p.R162W|TEX264_ENST00000341333.5_Missense_Mutation_p.R162W|TEX264_ENST00000457573.1_Missense_Mutation_p.R162W			Q9Y6I9	TX264_HUMAN	testis expressed 264	162						extracellular region				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		TGACTAGGAGCGGAAGCTGTG	0.542													T	51733425	C	T	51733425	3	4	364	1	0	0	0	0	1	0	0	0	15883	759	27	1	494	1	TEX264	3	51733425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36168	51733425	146289005	3024	26526											
GRM2	2912	broad.mit.edu	37	chr3	51747018	51747018	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctaccccatcagtgactTtgcctcctacttccagagcc	7	11	5	18	0	1	2	1	1	0	1	4	2	4	2	7	0	4	0	7	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51747018T>G	ENST00000395052.3	+	3	1214	c.980T>G	c.(979-981)tTt>tGt	p.F327C	GRM2_ENST00000442933.2_Missense_Mutation_p.F327C|GRM2_ENST00000475478.1_Intron	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	327					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	ATCAGTGACTTTGCCTCCTAC	0.617													G	51747018	T	G	51747018	3	3	364	1	0	0	0	0	1	0	0	0	6852	1841	64	5	986	5	GRM2	3	51747018	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13593	51747018	146275412	3025	26527											
GRM2	2912	broad.mit.edu	37	chr3	51749164	51749164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacaacatcttcacctatCtgcgtgcaggcagtgggcgc	8	9	11	13	2	3	0	1	0	2	0	3	0	3	0	1	2	4	3	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749164C>A	ENST00000395052.3	+	4	1609	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	GRM2_ENST00000442933.2_Missense_Mutation_p.L459M|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	459					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	CTTCACCTATCTGCGTGCAGG	0.597													A	51749164	C	A	51749164	3	1	364	1	0	0	0	0	1	0	0	0	6852	912	32	4	1385	4	GRM2	3	51749164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2146	51749164	146273266	3026	26528											
GRM2	2912	broad.mit.edu	37	chr3	51749692	51749692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacggcagtgtgtaccttaCggcgtcttggtttgggcact	5	12	13	11	3	1	0	0	0	1	0	1	0	1	0	2	4	2	4	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51749692C>T	ENST00000395052.3	+	4	2137	c.1903C>T	c.(1903-1905)Cgg>Tgg	p.R635W	GRM2_ENST00000442933.2_Intron|GRM2_ENST00000475478.1_3'UTR	NM_000839.3	NP_000830.2	Q14416	GRM2_HUMAN	glutamate receptor, metabotropic 2	635					synaptic transmission	integral to plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000539)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acamprosate(DB00659)|Nicotine(DB00184)	GTGTACCTTACGGCGTCTTGG	0.587													T	51749692	C	T	51749692	3	4	364	1	0	0	0	0	1	0	0	0	6852	527	19	1	1913	1	GRM2	3	51749692	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	528	51749692	146272738	3027	26529											
IQCF1	132141	broad.mit.edu	37	chr3	51937000	51937000	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaagtcagggctcctcctaCctctgcctttgactctgctc	5	12	7	17	0	3	1	1	1	2	0	6	1	5	1	5	1	3	2	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51937000C>T	ENST00000310914.5	-	2	171		c.e2+1			NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GCTCCTCCTACCTCTGCCTTT	0.493													T	51937000	C	T	51937000	5	4	364	1	0	0	0	0	0	0	1	0	7865	521	18	2	520	2	IQCF1	3	51937000	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187308	51937000	146085430	3028	26530											
PARP3	10039	broad.mit.edu	37	chr3	51979069	51979069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caacagattgcacggggtttCgaggccttggaggcgctgga	8	8	16	9	3	0	1	0	0	0	1	1	4	0	3	1	6	2	3	1	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51979069C>T	ENST00000417220.2	+	7	1178	c.690C>T	c.(688-690)ttC>ttT	p.F230F	PARP3_ENST00000431474.1_Silent_p.F230F|PARP3_ENST00000398755.3_Silent_p.F237F			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	230	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CACGGGGTTTCGAGGCCTTGG	0.617													T	51979069	C	T	51979069	2	4	364	1	0	0	0	0	0	0	0	1	11538	883	31	1		1	PARP3	3	51979069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42069	51979069	146043361	3029	26531											
PCBP4	57060	broad.mit.edu	37	chr3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtggcaaaggggaccGcatggcttgagagctgctgg	7	8	19	7	1	0	1	0	1	0	1	0	3	0	2	1	6	2	5	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:51993277G>A	ENST00000461554.1	-	11	999	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V|PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	223						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637													A	51993277	G	A	51993277	3	1	364	1	0	0	0	0	1	0	0	0	11579	1087	38	1	559	1	PCBP4	3	51993277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14208	51993277	146029153	3030	26532											
RPL29	6159	broad.mit.edu	37	chr3	52028026	52028026	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgggctttacgagggcCttgatagcctcggcacgtgc	5	11	13	12	3	0	1	0	1	0	0	2	2	1	1	3	3	3	2	3	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52028026C>T	ENST00000466397.1	-	4	359	c.219G>A	c.(217-219)aaG>aaA	p.K73K	RPL29_ENST00000294189.6_Silent_p.K73K|RPL29_ENST00000479017.1_Silent_p.K73K|RPL29_ENST00000495383.1_Silent_p.K73K|RPL29_ENST00000475248.1_Silent_p.K73K			P47914	RL29_HUMAN	ribosomal protein L29	73					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TTACGAGGGCCTTGATAGCCT	0.547													T	52028026	C	T	52028026	2	4	364	1	0	0	0	0	0	0	0	1	13669	680	24	2		2	RPL29	3	52028026	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34749	52028026	145994404	3031	26533											
RPL29	6159	broad.mit.edu	37	chr3	52029074	52029074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacccccttaagagattcgTatctttgtgatcggggtttc	7	15	9	10	2	2	2	1	1	1	1	5	3	2	2	2	2	0	2	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52029074T>C	ENST00000481629.1	-	3	118	c.86A>G	c.(85-87)tAc>tGc	p.Y29C	RPL29_ENST00000466397.1_Missense_Mutation_p.Y29C|RPL29_ENST00000294189.6_Missense_Mutation_p.Y29C|RPL29_ENST00000479017.1_Missense_Mutation_p.Y29C|RPL29_ENST00000495383.1_Missense_Mutation_p.Y29C|RPL29_ENST00000475248.1_Missense_Mutation_p.Y29C			P47914	RL29_HUMAN	ribosomal protein L29	29					embryo implantation|endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	heparin binding|protein binding|RNA binding|structural constituent of ribosome			lung(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAGAGATTCGTATCTTTGTGA	0.428													C	52029074	T	C	52029074	3	2	364	1	0	0	0	0	1	0	0	0	13669	1638	57	3	401	3	RPL29	3	52029074	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1048	52029074	145993356	3032	26534											
DUSP7	1849	broad.mit.edu	37	chr3	52084922	52084922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgacgcgtggttgtcgcacGggctgcttagccccagcgtc	4	9	14	14	6	0	0	0	0	0	0	3	1	0	0	2	2	3	4	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52084922G>A	ENST00000495880.1	-	3	1352	c.1169C>T	c.(1168-1170)cCg>cTg	p.P390L	DUSP7_ENST00000296483.6_Missense_Mutation_p.P339L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	390					inactivation of MAPK activity|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|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GTTGTCGCACGGGCTGCTTAG	0.572													A	52084922	G	A	52084922	3	1	364	1	0	0	0	0	1	0	0	0	4869	1116	39	1	94	1	DUSP7	3	52084922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55848	52084922	145937508	3033	26535											
DUSP7	1849	broad.mit.edu	37	chr3	52088116	52088116	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccatacttgccgagcacGtccaggttggtggagtcctt	7	11	12	11	2	0	0	0	0	0	0	2	2	2	1	4	3	4	2	4	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088116G>A	ENST00000495880.1	-	2	975	c.792C>T	c.(790-792)gaC>gaT	p.D264D	DUSP7_ENST00000296483.6_Silent_p.D213D			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	264					inactivation of MAPK activity|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|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		TGCCGAGCACGTCCAGGTTGG	0.592													A	52088116	G	A	52088116	2	1	364	1	0	0	0	0	0	0	0	1	4869	1136	40	1		1	DUSP7	3	52088116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3194	52088116	145934314	3034	26536											
DUSP7	1849	broad.mit.edu	37	chr3	52088295	52088295	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcaggccccccaggcccaGcactgaggtgggtggcgagc	6	3	17	15	2	0	1	0	1	0	0	0	2	0	1	4	5	2	2	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52088295G>A	ENST00000495880.1	-	2	796	c.613C>T	c.(613-615)Ctg>Ttg	p.L205L	DUSP7_ENST00000296483.6_Silent_p.L154L			Q16829	DUS7_HUMAN	dual specificity phosphatase 7	205	Ser-rich.				inactivation of MAPK activity|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|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	MAP kinase tyrosine/serine/threonine phosphatase activity|protein binding|protein tyrosine phosphatase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(193;5.14e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCCAGGCCCAGCACTGAGGTG	0.637													A	52088295	G	A	52088295	2	1	364	1	0	0	0	0	0	0	0	1	4869	962	34	2		2	DUSP7	3	52088295	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179	52088295	145934135	3035	26537											
ALAS1	211	broad.mit.edu	37	chr3	52238733	52238733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacttttcagtatgatcGtttctttgagaaaaaaattg	12	17	6	6	1	2	2	1	2	1	1	4	3	3	2	1	0	0	2	1	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52238733G>A	ENST00000394965.2	+	6	962	c.602G>A	c.(601-603)cGt>cAt	p.R201H	ALAS1_ENST00000484952.1_Missense_Mutation_p.R201H|ALAS1_ENST00000310271.2_Missense_Mutation_p.R201H|ALAS1_ENST00000469224.1_Missense_Mutation_p.R201H	NM_000688.5	NP_000679.1	P13196	HEM1_HUMAN	aminolevulinate, delta-, synthase 1	201					heme biosynthetic process	mitochondrial matrix	5-aminolevulinate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			endometrium(3)|kidney(3)|large_intestine(7)|liver(2)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.000583)|KIRC - Kidney renal clear cell carcinoma(197;0.000751)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CAGTATGATCGTTTCTTTGAG	0.383													A	52238733	G	A	52238733	3	1	364	1	0	0	0	0	1	0	0	0	484	1145	40	1	616	1	ALAS1	3	52238733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150438	52238733	145783697	3036	26538											
TLR9	54106	broad.mit.edu	37	chr3	52256729	52256729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatgagtgctcgtggtagaGgtccagcttattgtgggaca	9	11	15	6	1	0	2	0	1	0	1	2	4	1	3	1	3	2	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52256729G>T	ENST00000597542.1	-	9	2632	c.1675C>A	c.(1675-1677)Ctc>Atc	p.L559I	TLR9_ENST00000360658.2_Missense_Mutation_p.L535I|TLR9_ENST00000494383.1_Missense_Mutation_p.P688H			Q9NR96	TLR9_HUMAN	toll-like receptor 9	535					defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	TCGTGGTAGAGGTCCAGCTTA	0.612													T	52256729	G	T	52256729	3	4	364	1	0	0	0	0	1	0	0	0	16058	1000	35	4	1499	4	TLR9	3	52256729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17996	52256729	145765701	3037	26539											
DNAH1	25981	broad.mit.edu	37	chr3	52387488	52387488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgcgcaaccctggcatgCggatccggcactgggagaca	8	5	15	13	3	0	1	0	0	0	1	1	3	1	2	2	5	3	4	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52387488C>T	ENST00000420323.2	+	20	3580	c.3319C>T	c.(3319-3321)Cgg>Tgg	p.R1107W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1107	Stem (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)		CCCTGGCATGCGGATCCGGCA	0.607													T	52387488	C	T	52387488	3	4	364	1	0	0	0	0	1	0	0	0	4636	759	27	1	3393	1	DNAH1	3	52387488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130759	52387488	145634942	3038	26540											
DNAH1	25981	broad.mit.edu	37	chr3	52398868	52398868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctgatctgcctccgggCcatccgtgatgtgaacgtgc	6	9	14	12	3	1	3	0	3	1	0	3	4	3	4	4	2	4	1	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398868C>T	ENST00000420323.2	+	34	5612	c.5351C>T	c.(5350-5352)gCc>gTc	p.A1784V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1784					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)		TGCCTCCGGGCCATCCGTGAT	0.632													T	52398868	C	T	52398868	3	4	364	1	0	0	0	0	1	0	0	0	4636	739	26	2	5481	2	DNAH1	3	52398868	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11380	52398868	145623562	3039	26541											
DNAH1	25981	broad.mit.edu	37	chr3	52398885	52398885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatccgtgatgtgaacGtgcccaagttcctgcaggag	8	8	14	11	2	0	2	0	2	0	0	2	3	2	3	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52398885G>A	ENST00000420323.2	+	34	5629	c.5368G>A	c.(5368-5370)Gtg>Atg	p.V1790M		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1790					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)		TGATGTGAACGTGCCCAAGTT	0.632													A	52398885	G	A	52398885	3	1	364	1	0	0	0	0	1	0	0	0	4636	1145	40	1	5498	1	DNAH1	3	52398885	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17	52398885	145623545	3040	26542											
DNAH1	25981	broad.mit.edu	37	chr3	52409983	52409983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctctagatggactccttgGagaaaaaagctaccgggagc	12	8	11	10	1	1	2	0	0	1	2	3	5	3	4	3	3	3	1	3	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52409983G>A	ENST00000420323.2	+	46	7433	c.7172G>A	c.(7171-7173)gGa>gAa	p.G2391E		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2391	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)		GGACTCCTTGGAGAAAAAAGC	0.607													A	52409983	G	A	52409983	3	1	364	1	0	0	0	0	1	0	0	0	4636	1174	41	2	7350	2	DNAH1	3	52409983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11098	52409983	145612447	3041	26543											
DNAH1	25981	broad.mit.edu	37	chr3	52417476	52417476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcccaatctgtatactgcGgacgagcaggaccagatcgt	11	9	10	11	3	1	1	0	0	1	1	3	4	2	3	2	2	3	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52417476G>A	ENST00000420323.2	+	51	8277	c.8016G>A	c.(8014-8016)gcG>gcA	p.A2672A		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2672	AAA 4 (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)		TGTATACTGCGGACGAGCAGG	0.557													A	52417476	G	A	52417476	2	1	364	1	0	0	0	0	0	0	0	1	4636	1103	39	1		1	DNAH1	3	52417476	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7493	52417476	145604954	3042	26544											
DNAH1	25981	broad.mit.edu	37	chr3	52427409	52427409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctacagcctctacagcAacgtctgccgcagcctcttt	8	10	7	16	2	3	1	0	1	3	0	3	1	3	1	4	0	7	2	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52427409A>G	ENST00000420323.2	+	66	10795	c.10534A>G	c.(10534-10536)Aac>Gac	p.N3512D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3577					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)		CCTCTACAGCAACGTCTGCCG	0.542													G	52427409	A	G	52427409	3	3	364	1	0	0	0	0	1	0	0	0	4636	130	5	3	10792	3	DNAH1	3	52427409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9933	52427409	145595021	3043	26545											
DNAH1	25981	broad.mit.edu	37	chr3	52434366	52434366	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatcaaccacaggacactcTaccaactatgtcattgctgt	12	11	5	13	0	3	0	2	0	1	0	3	1	3	1	2	1	4	1	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52434366T>C	ENST00000420323.2	+	78	12963	c.12702T>C	c.(12700-12702)tcT>tcC	p.S4234S		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4299					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)		CAGGACACTCTACCAACTATG	0.557													C	52434366	T	C	52434366	2	2	364	1	0	0	0	0	0	0	0	1	4636	1509	53	3		3	DNAH1	3	52434366	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6957	52434366	145588064	3044	26546											
SEMA3G	56920	broad.mit.edu	37	chr3	52476300	52476300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaggctgtagcacccgCacgaagttggcgcactctgt	7	10	13	11	3	1	1	0	1	1	0	1	2	1	1	1	2	1	6	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52476300C>T	ENST00000231721.2	-	4	359	c.360G>A	c.(358-360)gtG>gtA	p.V120V		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	120	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		GTAGCACCCGCACGAAGTTGG	0.667													T	52476300	C	T	52476300	2	4	364	1	0	0	0	0	0	0	0	1	14123	697	25	2		2	SEMA3G	3	52476300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41934	52476300	145546130	3045	26547											
TNNC1	7134	broad.mit.edu	37	chr3	52485835	52485835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccttcatgcaccgaaccAtcatgaccaggaactcatca	12	8	6	15	2	4	1	4	1	0	0	5	3	5	2	4	1	3	1	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52485835A>G	ENST00000232975.3	-	4	296	c.242T>C	c.(241-243)aTg>aCg	p.M81T		NM_003280.2	NP_003271.1	P63316	TNNC1_HUMAN	troponin C type 1 (slow)	81	EF-hand 2.				cardiac muscle contraction|muscle filament sliding|regulation of ATPase activity|regulation of muscle filament sliding speed|ventricular cardiac muscle tissue morphogenesis	cytosol|troponin complex	actin filament binding|calcium ion binding|calcium-dependent protein binding|protein homodimerization activity|troponin I binding|troponin T binding			endometrium(1)|lung(3)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00175)|KIRC - Kidney renal clear cell carcinoma(197;0.00198)|OV - Ovarian serous cystadenocarcinoma(275;0.0525)	Bepridil(DB01244)|Dihydroxyaluminium(DB01375)|Levosimendan(DB00922)	GCACCGAACCATCATGACCAG	0.577													G	52485835	A	G	52485835	3	3	364	1	0	0	0	0	1	0	0	0	16424	217	8	3	255	3	TNNC1	3	52485835	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9535	52485835	145536595	3046	26548											
NISCH	11188	broad.mit.edu	37	chr3	52492834	52492834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgacccccagagtactgGcccacttcttgcattttcac	7	11	8	15	1	2	2	1	1	1	1	2	2	2	2	3	1	2	2	3	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52492834G>A	ENST00000345716.4	+	3	468	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	NISCH_ENST00000479054.1_Missense_Mutation_p.A112T|NISCH_ENST00000488380.1_Missense_Mutation_p.A112T|NISCH_ENST00000420808.2_Missense_Mutation_p.A112T	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	112	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.|PX.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGAGTACTGGCCCACTTCTT	0.527													A	52492834	G	A	52492834	3	1	364	1	0	0	0	0	1	0	0	0	10508	1203	42	2	344	2	NISCH	3	52492834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6999	52492834	145529596	3047	26549											
NISCH	11188	broad.mit.edu	37	chr3	52521900	52521900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcattatctcggacgccGccaacctgcacgagttccac	8	10	7	16	4	3	0	1	0	2	0	5	2	4	1	4	1	2	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52521900G>A	ENST00000345716.4	+	16	2526	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	NISCH_ENST00000479054.1_Missense_Mutation_p.A798T	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	798	Interaction with ITGA5 (By similarity).|Interaction with LIMK (By similarity).|Interaction with PAK1 (By similarity).				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CTCGGACGCCGCCAACCTGCA	0.607													A	52521900	G	A	52521900	3	1	364	1	0	0	0	0	1	0	0	0	10508	1087	38	1	2454	1	NISCH	3	52521900	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29066	52521900	145500530	3048	26550											
NISCH	11188	broad.mit.edu	37	chr3	52522138	52522138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccgccggggactactcagGcaacatcgagtgggccagct	8	5	15	13	3	1	0	1	0	0	0	2	2	1	1	3	5	3	2	3	5	2	1	rs150671822		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52522138G>A	ENST00000345716.4	+	16	2764	c.2630G>A	c.(2629-2631)gGc>gAc	p.G877D	NISCH_ENST00000479054.1_Missense_Mutation_p.G877D	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	877					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GACTACTCAGGCAACATCGAG	0.682													A	52522138	G	A	52522138	3	1	364	1	0	0	0	0	1	0	0	0	10508	1203	42	2	2692	2	NISCH	3	52522138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238	52522138	145500292	3049	26551											
STAB1	23166	broad.mit.edu	37	chr3	52547929	52547929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccgaggggatgtgcccGgtgggcaggggttgctgcag	4	6	19	12	2	0	0	0	0	0	0	0	2	0	1	4	6	3	4	4	6	0	1	rs2286786	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52547929G>A	ENST00000321725.6	+	32	3455	c.3379G>A	c.(3379-3381)Ggt>Agt	p.G1127S		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1127			G -> R (in dbSNP:rs2286786).		cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GGATGTGCCCGGTGGGCAGGG	0.622													A	52547929	G	A	52547929	3	1	364	1	0	0	0	0	1	0	0	0	15333	1116	39	1	3505	1	STAB1	3	52547929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25791	52547929	145474501	3050	26552											
STAB1	23166	broad.mit.edu	37	chr3	52553295	52553295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggcagcatatacctcAatgacttcgcgcgcgtggtg	8	8	12	13	4	1	1	1	1	0	0	2	1	1	1	2	2	2	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52553295A>G	ENST00000321725.6	+	49	5126	c.5050A>G	c.(5050-5052)Aat>Gat	p.N1684D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1684	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CATATACCTCAATGACTTCGC	0.642													G	52553295	A	G	52553295	3	3	364	1	0	0	0	0	1	0	0	0	15333	130	5	3	5244	3	STAB1	3	52553295	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5366	52553295	145469135	3051	26553											
STAB1	23166	broad.mit.edu	37	chr3	52556111	52556111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgccaactgtagccaGgtaggaacaatggtcacttg	12	7	12	10	1	1	0	1	0	0	0	1	2	1	1	2	3	4	3	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556111G>A	ENST00000321725.6	+	59	6406	c.6330G>A	c.(6328-6330)caG>caA	p.Q2110Q		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2110	EGF-like 15.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		ACTGTAGCCAGGTAGGAACAA	0.652													A	52556111	G	A	52556111	2	1	364	1	0	0	0	0	0	0	0	1	15333	991	35	2		2	STAB1	3	52556111	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2816	52556111	145466319	3052	26554											
STAB1	23166	broad.mit.edu	37	chr3	52556370	52556370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggcgctgtgagtgccacGcaggctacgtaggcgatgga	8	6	16	11	5	0	1	0	1	0	0	0	3	0	2	1	4	2	4	1	4	2	2	rs141937769		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52556370G>A	ENST00000321725.6	+	60	6566	c.6490G>A	c.(6490-6492)Gca>Aca	p.A2164T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2164	EGF-like 16.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGAGTGCCACGCAGGCTACGT	0.647													A	52556370	G	A	52556370	3	1	364	1	0	0	0	0	1	0	0	0	15333	1087	38	1	6728	1	STAB1	3	52556370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	259	52556370	145466060	3053	26555											
STAB1	23166	broad.mit.edu	37	chr3	52557070	52557070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgccgaaatggcttcGtgggtgacgggatcagcacg	8	7	16	10	5	1	1	1	1	0	0	2	4	1	2	2	3	2	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52557070G>A	ENST00000321725.6	+	63	7016	c.6940G>A	c.(6940-6942)Gtg>Atg	p.V2314M		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	2314					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		AAATGGCTTCGTGGGTGACGG	0.597													A	52557070	G	A	52557070	3	1	364	1	0	0	0	0	1	0	0	0	15333	1145	40	1	7190	1	STAB1	3	52557070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	700	52557070	145465360	3054	26556											
PBRM1	55193	broad.mit.edu	37	chr3	52598163	52598163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcgctctcattgtagcGgctctcacaaagcagaatgt	9	12	9	11	2	2	1	2	0	2	1	5	1	2	1	0	1	2	4	0	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52598163G>A	ENST00000356770.4	-	22	3684	c.3682C>T	c.(3682-3684)Cgc>Tgc	p.R1228C	PBRM1_ENST00000296302.7_Missense_Mutation_p.R1260C|PBRM1_ENST00000394830.3_Missense_Mutation_p.R1235C|PBRM1_ENST00000337303.4_Missense_Mutation_p.R1260C|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409114.3_Missense_Mutation_p.R1275C|PBRM1_ENST00000409767.1_Missense_Mutation_p.R1275C|PBRM1_ENST00000410007.1_Missense_Mutation_p.R1235C|PBRM1_ENST00000409057.1_Missense_Mutation_p.R1260C			Q86U86	PB1_HUMAN	polybromo 1	1260	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCATTGTAGCGGCTCTCACAA	0.408			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52598163	G	A	52598163	3	1	364	1	0	0	0	0	1	0	0	0	11567	1116	39	1	1154	1	PBRM1	3	52598163	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41093	52598163	145424267	3055	26557											
PBRM1	55193	broad.mit.edu	37	chr3	52637555	52637555	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcttttttcttcttctcGttttagtttatcttcctcta	4	24	2	11	1	6	0	0	0	6	0	8	0	7	0	2	0	0	2	2	0	3	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52637555G>A	ENST00000356770.4	-	16	2667	c.2665C>T	c.(2665-2667)Cga>Tga	p.R889*	PBRM1_ENST00000296302.7_Nonsense_Mutation_p.R921*|PBRM1_ENST00000394830.3_Nonsense_Mutation_p.R921*|PBRM1_ENST00000337303.4_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409114.3_Nonsense_Mutation_p.R936*|PBRM1_ENST00000409767.1_Nonsense_Mutation_p.R936*|PBRM1_ENST00000410007.1_Nonsense_Mutation_p.R921*|PBRM1_ENST00000409057.1_Nonsense_Mutation_p.R921*			Q86U86	PB1_HUMAN	polybromo 1	921					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	p.R921*(2)|p.R889*(1)		breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCTTCTTCTCGTTTTAGTTTA	0.343			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52637555	G	A	52637555	4	1	364	1	0	0	0	0	0	1	0	0	11567	1153	40	1	2195	1	PBRM1	3	52637555	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39392	52637555	145384875	3056	26558											
PBRM1	55193	broad.mit.edu	37	chr3	52643916	52643916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagacctcatttagtttCtgctgcattggagtcatgta	9	16	8	8	0	4	1	3	0	1	1	4	2	4	2	1	1	2	4	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52643916C>A	ENST00000356770.4	-	15	1886	c.1884G>T	c.(1882-1884)caG>caT	p.Q628H	PBRM1_ENST00000296302.7_Missense_Mutation_p.Q660H|PBRM1_ENST00000394830.3_Missense_Mutation_p.Q660H|PBRM1_ENST00000337303.4_Missense_Mutation_p.Q660H|PBRM1_ENST00000409114.3_Missense_Mutation_p.Q675H|PBRM1_ENST00000409767.1_Missense_Mutation_p.Q675H|PBRM1_ENST00000410007.1_Missense_Mutation_p.Q660H|PBRM1_ENST00000409057.1_Missense_Mutation_p.Q660H			Q86U86	PB1_HUMAN	polybromo 1	660					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CATTTAGTTTCTGCTGCATTG	0.378			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52643916	C	A	52643916	3	1	364	1	0	0	0	0	1	0	0	0	11567	912	32	4	2980	4	PBRM1	3	52643916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6361	52643916	145378514	3057	26559											
PBRM1	55193	broad.mit.edu	37	chr3	52668759	52668760	+	Frame_Shift_Ins	INS	-	-	A																															aactgtgtcataaagctgatINSaaaaaggatttgaaacatcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52668759_52668760insA	ENST00000356770.4	-	10	1065_1066	c.1063_1064insT	c.(1063-1065)tatfs	p.Y355fs	PBRM1_ENST00000337303.4_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409057.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000296302.7_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409767.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000410007.1_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000409114.3_Frame_Shift_Ins_p.Y387fs|PBRM1_ENST00000394830.3_Frame_Shift_Ins_p.Y387fs			Q86U86	PB1_HUMAN	polybromo 1	387					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		ATAAAGCTGATAAAAAGGATTT	0.371			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52668760	-	A	52668759	7	5	364	1	0	1	1	0	0	0	0	0	11567	1406	49	0	3820	0	PBRM1	3	52668759	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	24843	52668759	145353671	3058	26560											
PBRM1	55193	broad.mit.edu	37	chr3	52678781	52678781	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagcctttttcatataaaAtatttttttaattgaatttg	12	22	3	4	0	2	1	2	1	0	0	2	1	2	1	1	0	1	0	1	0	6	12			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52678781A>C	ENST00000356770.4	-	8	840	c.838T>G	c.(838-840)Ttt>Gtt	p.F280V	PBRM1_ENST00000296302.7_Missense_Mutation_p.F280V|PBRM1_ENST00000394830.3_Missense_Mutation_p.F280V|PBRM1_ENST00000337303.4_Missense_Mutation_p.F280V|PBRM1_ENST00000409114.3_Missense_Mutation_p.F280V|PBRM1_ENST00000409767.1_Missense_Mutation_p.F280V|PBRM1_ENST00000410007.1_Missense_Mutation_p.F280V|PBRM1_ENST00000409057.1_Missense_Mutation_p.F280V			Q86U86	PB1_HUMAN	polybromo 1	280					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TTCatataaaatattttttta	0.358			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								C	52678781	A	C	52678781	3	2	364	1	0	0	0	0	1	0	0	0	11567	101	4	5	4154	5	PBRM1	3	52678781	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10022	52678781	145343649	3059	26561											
GNL3	26354	broad.mit.edu	37	chr3	52724667	52724667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgaagaaagaattgccaAcagtggtgttcagagcctca	14	10	10	7	0	2	4	2	1	0	3	2	4	2	4	2	1	3	1	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724667A>G	ENST00000394799.2	+	7	775	c.565A>G	c.(565-567)Aca>Gca	p.T189A	GNL3_ENST00000418458.1_Missense_Mutation_p.T201A	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	201					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AGAATTGCCAACAGTGGTGTT	0.388													G	52724667	A	G	52724667	3	3	364	1	0	0	0	0	1	0	0	0	6593	43	2	3	627	3	GNL3	3	52724667	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45886	52724667	145297763	3060	26562											
GNL3	26354	broad.mit.edu	37	chr3	52724697	52724697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagagcctcaacaaaaccaAaggataaagggaagataacc	20	4	8	9	0	2	2	2	0	0	2	2	4	2	4	3	2	4	0	3	2	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52724697A>C	ENST00000394799.2	+	7	805	c.595A>C	c.(595-597)Aag>Cag	p.K199Q	GNL3_ENST00000418458.1_Missense_Mutation_p.K211Q	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	211					regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		AACAAAACCAAAGGATAAAGG	0.353													C	52724697	A	C	52724697	3	2	364	1	0	0	0	0	1	0	0	0	6593	15	1	5	657	5	GNL3	3	52724697	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30	52724697	145297733	3061	26563											
ITIH1	3697	broad.mit.edu	37	chr3	52811745	52811745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggcaggtccaagagcagCgaggtatatggctaagccca	13	5	13	10	1	0	1	0	0	0	1	1	2	1	1	2	4	3	4	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52811745C>T	ENST00000273283.2	+	1	138	c.114C>T	c.(112-114)agC>agT	p.S38S	ITIH1_ENST00000542827.1_Silent_p.S38S	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	38	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CCAAGAGCAGCGAGGTATATG	0.632													T	52811745	C	T	52811745	2	4	364	1	0	0	0	0	0	0	0	1	7961	767	27	1		1	ITIH1	3	52811745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87048	52811745	145210685	3062	26564											
ITIH1	3697	broad.mit.edu	37	chr3	52812378	52812378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgatggcgtgttcatccGgagtttgaaagtcaactgca	9	12	12	8	3	2	1	2	1	0	0	4	3	3	2	1	2	2	3	1	2	2	2	rs150656991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52812378G>A	ENST00000273283.2	+	3	185	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	ITIH1_ENST00000542827.1_Missense_Mutation_p.R54Q	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	54	VIT.			R -> A (in Ref. 7; AA sequence).	hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		GTGTTCATCCGGAGTTTGAAA	0.552													A	52812378	G	A	52812378	3	1	364	1	0	0	0	0	1	0	0	0	7961	1116	39	1	171	1	ITIH1	3	52812378	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	633	52812378	145210052	3063	26565											
ITIH3	3699	broad.mit.edu	37	chr3	52842605	52842605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaggatgccagcatcGgcacgaaggttgtctgctgg	11	7	14	9	2	1	1	0	0	1	1	2	3	1	2	1	4	3	4	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52842605G>A	ENST00000449956.2	+	22	2587	c.2581G>A	c.(2581-2583)Ggc>Agc	p.G861S	ITIH3_ENST00000416872.2_Missense_Mutation_p.G669S	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	861					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGCCAGCATCGGCACGAAGGT	0.532													A	52842605	G	A	52842605	3	1	364	1	0	0	0	0	1	0	0	0	7963	1116	39	1	2667	1	ITIH3	3	52842605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30227	52842605	145179825	3064	26566											
ITIH4	3700	broad.mit.edu	37	chr3	52860641	52860641	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccagaaagctgatgccCtggggctcgaagatgtgaat	10	9	13	9	1	1	4	0	2	1	2	3	5	1	4	2	2	2	2	2	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52860641C>A	ENST00000266041.4	-	5	642	c.546G>T	c.(544-546)caG>caT	p.Q182H	ITIH4_ENST00000485816.1_Missense_Mutation_p.Q182H|RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Missense_Mutation_p.Q182H|ITIH4_ENST00000434759.3_Missense_Mutation_p.Q94H|ITIH4_ENST00000406595.1_Missense_Mutation_p.Q182H	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	182					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		AGCTGATGCCCTGGGGCTCGA	0.587													A	52860641	C	A	52860641	3	1	364	1	0	0	0	0	1	0	0	0	7964	680	24	4	2326	4	ITIH4	3	52860641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18036	52860641	145161789	3065	26567											
SFMBT1	51460	broad.mit.edu	37	chr3	52941704	52941704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaagttactatgcccaccaGgtggcctcccaattctttta	9	13	6	13	0	1	0	0	0	1	0	2	0	2	0	4	2	2	1	4	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52941704G>T	ENST00000394752.3	-	18	2334	c.1952C>A	c.(1951-1953)cCt>cAt	p.P651H	SFMBT1_ENST00000296295.6_Missense_Mutation_p.P651H|SFMBT1_ENST00000358080.2_Missense_Mutation_p.P651H|SFMBT1_ENST00000394750.1_Missense_Mutation_p.P651H	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	651					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		ATGCCCACCAGGTGGCCTCCC	0.388													T	52941704	G	T	52941704	3	4	364	1	0	0	0	0	1	0	0	0	14250	1000	35	4	664	4	SFMBT1	3	52941704	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81063	52941704	145080726	3066	26568											
SFMBT1	51460	broad.mit.edu	37	chr3	52946575	52946575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttttaggacttccccaCatccgtgccacacagagtct	8	11	8	14	1	1	1	0	0	1	1	3	2	3	2	4	2	1	1	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52946575C>T	ENST00000394752.3	-	16	2091	c.1709G>A	c.(1708-1710)tGt>tAt	p.C570Y	SFMBT1_ENST00000296295.6_Missense_Mutation_p.C570Y|SFMBT1_ENST00000358080.2_Missense_Mutation_p.C570Y|SFMBT1_ENST00000394750.1_Missense_Mutation_p.C570Y	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	570					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GACTTCCCCACATCCGTGCCA	0.478													T	52946575	C	T	52946575	3	4	364	1	0	0	0	0	1	0	0	0	14250	478	17	2	915	2	SFMBT1	3	52946575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4871	52946575	145075855	3067	26569											
SFMBT1	51460	broad.mit.edu	37	chr3	52968829	52968829	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatgtagtaatactcacGccctctagcagcggaacagg	11	8	11	11	2	2	0	1	0	1	0	2	1	2	1	1	3	4	4	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:52968829G>A	ENST00000394752.3	-	5	835	c.453C>T	c.(451-453)ggC>ggT	p.G151G	SFMBT1_ENST00000296295.6_Splice_Site_p.G151G|SFMBT1_ENST00000358080.2_Splice_Site_p.G151G|SFMBT1_ENST00000394750.1_Splice_Site_p.G151G	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	151					regulation of transcription, DNA-dependent	nucleus				breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		TAATACTCACGCCCTCTAGCA	0.443													A	52968829	G	A	52968829	5	1	364	1	0	0	0	0	0	0	1	0	14250	1101	38	1	2215	1	SFMBT1	3	52968829	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22254	52968829	145053601	3068	26570											
TKT	7086	broad.mit.edu	37	chr3	53262328	53262328	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaagtcctcattgttgttAtagatgatggcattttctgg	8	17	11	5	0	2	2	1	1	1	1	3	3	3	3	1	3	0	3	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53262328A>G	ENST00000462138.1	-	11	1531	c.1443T>C	c.(1441-1443)taT>taC	p.Y481Y	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.Y481Y|TKT_ENST00000296289.6_Silent_p.Y434Y|TKT_ENST00000423516.1_Silent_p.Y489Y			P29401	TKT_HUMAN	transketolase	481					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CATTGTTGTTATAGATGATGG	0.557													G	53262328	A	G	53262328	2	3	364	1	0	0	0	0	0	0	0	1	16034	456	16	3		3	TKT	3	53262328	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	293499	53262328	144760102	3069	26571											
TKT	7086	broad.mit.edu	37	chr3	53274267	53274267	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggagtaggtgtgttacCtggccttgtcgaagtatttg	6	14	16	5	1	0	0	0	0	0	0	1	2	0	1	2	4	1	3	2	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53274267C>A	ENST00000462138.1	-	4	525	c.437G>T	c.(436-438)aGc>aTc	p.S146I	TKT_ENST00000423525.2_Splice_Site_p.S146I|TKT_ENST00000296289.6_Splice_Site_p.S99I|TKT_ENST00000423516.1_Splice_Site_p.S146I			P29401	TKT_HUMAN	transketolase	146					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGTGTGTTACCTGGCCTTGTC	0.612													A	53274267	C	A	53274267	5	1	364	1	0	0	0	0	0	0	1	0	16034	695	24	4	1478	4	TKT	3	53274267	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11939	53274267	144748163	3070	26572											
CACNA1D	776	broad.mit.edu	37	chr3	53756346	53756346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttgtcttttagccgacGctggcgtcgctggaaccgat	5	13	12	11	5	1	0	0	0	1	0	2	3	1	1	2	2	3	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53756346G>A	ENST00000288139.4	+	13	1689	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	CACNA1D_ENST00000350061.5_Missense_Mutation_p.R504H|CACNA1D_ENST00000422281.2_Missense_Mutation_p.R504H	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TTTAGCCGACGCTGGCGTCGC	0.458													A	53756346	G	A	53756346	3	1	364	1	0	0	0	0	1	0	0	0	2567	1087	38	1	1729	1	CACNA1D	3	53756346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	482079	53756346	144266084	3071	26573											
CACNA1D	776	broad.mit.edu	37	chr3	53835325	53835325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgccaatctcaataatGccaatatgtccaaagctgcc	15	9	5	12	0	1	0	1	0	1	0	3	0	2	0	4	0	4	1	4	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53835325G>A	ENST00000288139.4	+	43	5459	c.5341G>A	c.(5341-5343)Gcc>Acc	p.A1781T	CACNA1D_ENST00000350061.5_Missense_Mutation_p.A1761T|CACNA1D_ENST00000422281.2_Missense_Mutation_p.A1746T|CACNA1D_ENST00000544977.1_Missense_Mutation_p.A140T	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TCTCAATAATGCCAATATGTC	0.468													A	53835325	G	A	53835325	3	1	364	1	0	0	0	0	1	0	0	0	2567	1319	46	2	5619	2	CACNA1D	3	53835325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78979	53835325	144187105	3072	26574											
CACNA1D	776	broad.mit.edu	37	chr3	53839116	53839116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggacgatgactcgcccGtttgctatgattcacggaga	9	10	13	9	4	1	3	1	2	0	1	2	7	1	5	1	3	1	2	1	3	1	3	rs142184099	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53839116G>A	ENST00000288139.4	+	46	5870	c.5752G>A	c.(5752-5754)Gtt>Att	p.V1918I	CACNA1D_ENST00000350061.5_Missense_Mutation_p.V1898I|CACNA1D_ENST00000422281.2_Missense_Mutation_p.V1874I|CACNA1D_ENST00000544977.1_Missense_Mutation_p.V277I	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	TGACTCGCCCGTTTGCTATGA	0.547													A	53839116	G	A	53839116	3	1	364	1	0	0	0	0	1	0	0	0	2567	1145	40	1	6042	1	CACNA1D	3	53839116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3791	53839116	144183314	3073	26575											
CACNA1D	776	broad.mit.edu	37	chr3	53844311	53844311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcagaggagtgcggacAgcttggtggaggcagtgagt	11	6	18	6	1	0	2	0	1	0	1	0	5	0	5	0	5	3	3	0	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53844311A>G	ENST00000288139.4	+	48	6356	c.6238A>G	c.(6238-6240)Agc>Ggc	p.S2080G	CACNA1D_ENST00000350061.5_Missense_Mutation_p.S2060G|CACNA1D_ENST00000422281.2_Missense_Mutation_p.S2036G|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAGTGCGGACAGCTTGGTGGA	0.597													G	53844311	A	G	53844311	3	3	364	1	0	0	0	0	1	0	0	0	2567	188	7	3	6536	3	CACNA1D	3	53844311	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5195	53844311	144178119	3074	26576											
CACNA1D	776	broad.mit.edu	37	chr3	53845162	53845162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctgatatccgaaggcttggGacgctatgcaagggacccaa	11	7	12	11	2	0	1	0	1	0	0	1	4	1	3	3	3	1	3	3	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53845162G>A	ENST00000288139.4	+	49	6393	c.6275G>A	c.(6274-6276)gGa>gAa	p.G2092E	CACNA1D_ENST00000350061.5_Missense_Mutation_p.G2072E|CACNA1D_ENST00000422281.2_Missense_Mutation_p.G2048E|CACNA1D_ENST00000544977.1_3'UTR	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GAAGGCTTGGGACGCTATGCA	0.517													A	53845162	G	A	53845162	3	1	364	1	0	0	0	0	1	0	0	0	2567	1174	41	2	6577	2	CACNA1D	3	53845162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	851	53845162	144177268	3075	26577											
IL17RB	55540	broad.mit.edu	37	chr3	53890892	53890892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgtgggatccgaacaTcactgcttgtaagaagaatg	13	9	11	8	1	1	2	1	0	0	2	2	4	2	3	2	1	3	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53890892T>C	ENST00000288167.3	+	7	560	c.551T>C	c.(550-552)aTc>aCc	p.I184T		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	184					defense response|regulation of cell growth	extracellular region|integral to plasma membrane	cytokine receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		GATCCGAACATCACTGCTTGT	0.453													C	53890892	T	C	53890892	3	2	364	1	0	0	0	0	1	0	0	0	7698	1435	50	3	577	3	IL17RB	3	53890892	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45730	53890892	144131538	3076	26578											
ACTR8	93973	broad.mit.edu	37	chr3	53911754	53911754	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatctaaaattgcaggtcGcatctgcttattgtaggagc	10	13	11	7	1	2	1	0	1	2	0	3	2	2	2	0	2	3	4	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:53911754G>A	ENST00000335754.3	-	4	530	c.430C>T	c.(430-432)Cga>Tga	p.R144*	ACTR8_ENST00000482349.1_Nonsense_Mutation_p.R33*	NM_022899.4	NP_075050.3	Q9H981	ARP8_HUMAN	ARP8 actin-related protein 8 homolog (yeast)	144					cell division|DNA recombination|DNA repair|mitosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex	protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000143)|KIRC - Kidney renal clear cell carcinoma(284;0.00544)|Kidney(284;0.00607)|OV - Ovarian serous cystadenocarcinoma(275;0.111)		ATTGCAGGTCGCATCTGCTTA	0.398													A	53911754	G	A	53911754	4	1	364	1	0	0	0	0	0	1	0	0	217	1095	38	1	1484	1	ACTR8	3	53911754	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20862	53911754	144110676	3077	26579											
ERC2	26059	broad.mit.edu	37	chr3	56114999	56114999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcttccagtcgtaatCtcagcgcatctacctgaaat	9	15	5	12	2	3	1	1	1	3	0	6	1	4	1	2	0	2	2	2	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56114999C>A	ENST00000288221.6	-	7	1742	c.1487G>T	c.(1486-1488)aGa>aTa	p.R496I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	496						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CAGTCGTAATCTCAGCGCATC	0.438													A	56114999	C	A	56114999	3	1	364	1	0	0	0	0	1	0	0	0	5252	913	32	4	1420	4	ERC2	3	56114999	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2203245	56114999	141907431	3078	26580											
ERC2	26059	broad.mit.edu	37	chr3	56183009	56183009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaccctggaccgtaccttgGtcttcataaacttggagtga	10	12	9	10	1	2	1	1	1	1	0	2	3	2	3	3	3	3	1	3	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56183009G>A	ENST00000288221.6	-	5	1556	c.1301C>T	c.(1300-1302)aCc>aTc	p.T434I		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	434						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		CCGTACCTTGGTCTTCATAAA	0.358													A	56183009	G	A	56183009	3	1	364	1	0	0	0	0	1	0	0	0	5252	1261	44	2	1614	2	ERC2	3	56183009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68010	56183009	141839421	3079	26581											
CCDC66	285331	broad.mit.edu	37	chr3	56601046	56601046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgtgatagaagttcgtTggaagcaaaaaaagcccagt	16	8	12	5	1	0	2	0	1	0	1	1	4	0	4	1	2	2	3	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56601046T>C	ENST00000394672.3	+	6	849	c.779T>C	c.(778-780)tTg>tCg	p.L260S	CCDC66_ENST00000538560.1_Missense_Mutation_p.L260S|CCDC66_ENST00000436465.2_Missense_Mutation_p.L260S|CCDC66_ENST00000442522.2_3'UTR|CCDC66_ENST00000326595.7_Missense_Mutation_p.L226S	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	260										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		AGAAGTTCGTTGGAAGCAAAA	0.373													C	56601046	T	C	56601046	3	2	364	1	0	0	0	0	1	0	0	0	2866	1821	63	3	801	3	CCDC66	3	56601046	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	418037	56601046	141421384	3080	26582											
CCDC66	285331	broad.mit.edu	37	chr3	56651180	56651180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaccaatgcagaatcacaTtgtggatcattaatggagag	14	11	9	7	0	3	2	3	0	0	2	3	4	3	3	1	2	1	1	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:56651180T>A	ENST00000394672.3	+	14	1954	c.1884T>A	c.(1882-1884)caT>caA	p.H628Q	CCDC66_ENST00000326595.7_Missense_Mutation_p.H594Q|CCDC66_ENST00000436465.2_Missense_Mutation_p.H628Q	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	628										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CAGAATCACATTGTGGATCAT	0.299													A	56651180	T	A	56651180	3	1	364	1	0	0	0	0	1	0	0	0	2866	1490	52	5	1938	5	CCDC66	3	56651180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50134	56651180	141371250	3081	26583											
SPATA12	353324	broad.mit.edu	37	chr3	57107737	57107737	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccatgtccagttctgcTctgacttgtgggtccacctt	4	13	10	14	0	2	1	0	1	2	0	4	1	4	1	5	2	1	2	5	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57107737T>A	ENST00000334325.1	+	2	690	c.15T>A	c.(13-15)gcT>gcA	p.A5A	ARHGEF3_ENST00000338458.4_Intron	NM_181727.1	NP_859078.1	Q7Z6I5	SPT12_HUMAN	spermatogenesis associated 12	5										large_intestine(2)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.0111)|Kidney(284;0.0129)		CCAGTTCTGCTCTGACTTGTG	0.547													A	57107737	T	A	57107737	2	1	364	1	0	0	0	0	0	0	0	1	15095	1538	54	5		5	SPATA12	3	57107737	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	456557	57107737	140914693	3082	26584											
IL17RD	54756	broad.mit.edu	37	chr3	57132155	57132155	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccttctgctgccctgtcGcgtgtgctgccccggctcct	0	13	11	17	3	1	0	0	0	1	0	4	0	3	0	5	1	4	4	5	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57132155G>A	ENST00000296318.7	-	12	1664	c.1576C>T	c.(1576-1578)Cga>Tga	p.R526*	IL17RD_ENST00000427856.2_Nonsense_Mutation_p.R502*|IL17RD_ENST00000320057.5_Nonsense_Mutation_p.R382*|IL17RD_ENST00000463523.1_Nonsense_Mutation_p.R382*	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	526						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		CTGCCCTGTCGCGTGTGCTGC	0.577													A	57132155	G	A	57132155	4	1	364	1	0	0	0	0	0	1	0	0	7700	1095	38	1	651	1	IL17RD	3	57132155	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24418	57132155	140890275	3083	26585											
IL17RD	54756	broad.mit.edu	37	chr3	57143645	57143645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctttacgaaataatccGtttcaaatttcatattcagg	14	14	4	9	2	3	0	3	0	0	0	4	1	4	0	2	1	2	1	2	1	6	7	rs140018512	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57143645G>A	ENST00000296318.7	-	5	558	c.470C>T	c.(469-471)aCg>aTg	p.T157M	IL17RD_ENST00000427856.2_Missense_Mutation_p.T133M|IL17RD_ENST00000320057.5_Missense_Mutation_p.T13M|IL17RD_ENST00000463523.1_Missense_Mutation_p.T13M	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	157						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAATAATCCGTTTCAAATTT	0.408													A	57143645	G	A	57143645	3	1	364	1	0	0	0	0	1	0	0	0	7700	1145	40	1	1785	1	IL17RD	3	57143645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11490	57143645	140878785	3084	26586											
IL17RD	54756	broad.mit.edu	37	chr3	57203355	57203355	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacctctgcccccatgcCtagcactctgtctggcacgc	6	10	7	18	1	4	0	1	0	3	0	4	0	4	0	4	1	3	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57203355C>A	ENST00000320057.5	-	0	141							Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D							Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GCCCCCATGCCTAGCACTCTG	0.517													A	57203355	C	A	57203355	1	1	364	1	0	0	0	0	0	0	0	0	7700	696	24	4		4	IL17RD	3	57203355	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59710	57203355	140819075	3085	26587											
APPL1	26060	broad.mit.edu	37	chr3	57274504	57274504	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttctagcttagctcttgTcatgcagtgctttcaactca	7	18	6	10	0	5	0	3	0	2	0	5	0	5	0	0	0	5	4	0	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57274504T>C	ENST00000288266.3	+	5	444	c.297T>C	c.(295-297)tgT>tgC	p.C99C		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	99	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTAGCTCTTGTCATGCAGTGC	0.343													C	57274504	T	C	57274504	2	2	364	1	0	0	0	0	0	0	0	1	820	1673	58	3		3	APPL1	3	57274504	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	71149	57274504	140747926	3086	26588											
APPL1	26060	broad.mit.edu	37	chr3	57276920	57276921	+	Frame_Shift_Ins	INS	-	-	A																															aatagatatagccgtttatcINSaaaaaaaagagaaaatgaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57276920_57276921insA	ENST00000288266.3	+	7	599_600	c.452_453insA	c.(451-456)tcaaaafs	p.SK151fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	151	Required for RAB5A binding.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding	p.R154fs*6(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		AGCCGTTTATCAAAAAAAAGAG	0.297													A	57276921	-	A	57276920	7	5	364	1	0	1	1	0	0	0	0	0	820	838	29	0	478	0	APPL1	3	57276920	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	2416	57276920	140745510	3087	26589											
APPL1	26060	broad.mit.edu	37	chr3	57293919	57293919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgattccttggttcaatGgaggtgaaatcagatgacca	11	11	11	8	1	2	3	2	2	0	1	4	5	4	4	3	3	0	1	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57293919G>T	ENST00000288266.3	+	17	1677	c.1530G>T	c.(1528-1530)atG>atT	p.M510I		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	510	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TTGGTTCAATGGAGGTGAAAT	0.348													T	57293919	G	T	57293919	3	4	364	1	0	0	0	0	1	0	0	0	820	1348	47	4	1596	4	APPL1	3	57293919	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16999	57293919	140728511	3088	26590											
APPL1	26060	broad.mit.edu	37	chr3	57302429	57302429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcatctgttctttaggatCgtagggcatcagaaaaacaa	14	12	8	7	1	4	1	2	0	2	1	5	2	4	2	0	2	1	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57302429C>T	ENST00000288266.3	+	21	2044	c.1897C>T	c.(1897-1899)Cgt>Tgt	p.R633C	ASB14_ENST00000389601.3_3'UTR|ASB14_ENST00000487349.1_3'UTR	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	633	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		TCTTTAGGATCGTAGGGCATC	0.269													T	57302429	C	T	57302429	3	4	364	1	0	0	0	0	1	0	0	0	820	884	31	1	1979	1	APPL1	3	57302429	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8510	57302429	140720001	3089	26591											
APPL1	26060	broad.mit.edu	37	chr3	57303661	57303661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccttagcagtagccaGtcagaagagagtgatttggg	10	11	14	6	0	1	3	1	1	0	2	2	4	2	3	2	1	2	3	2	1	3	4	rs146152896		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303661G>A	ENST00000288266.3	+	22	2223	c.2076G>A	c.(2074-2076)caG>caA	p.Q692Q	ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	692					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		GCAGTAGCCAGTCAGAAGAGA	0.443													A	57303661	G	A	57303661	2	1	364	1	0	0	0	0	0	0	0	1	820	1020	36	2		2	APPL1	3	57303661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1232	57303661	140718769	3090	26592											
APPL1	26060	broad.mit.edu	37	chr3	57303715	57303715	+	Nonstop_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagagaatcagaagcataAgcttatacttttggtagata	17	11	9	4	0	1	4	1	0	0	4	1	5	1	4	0	1	3	3	0	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57303715A>C	ENST00000288266.3	+	22	2277	c.2130A>C	c.(2128-2130)taA>taC	p.*710Y	ASB14_ENST00000389601.3_Intron|ASB14_ENST00000487349.1_Intron	NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	0					apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CAGAAGCATAAGCTTATACTT	0.413													C	57303715	A	C	57303715	4	2	364	1	0	0	0	0	0	0	0	0	820	79	3	5	2216	5	APPL1	3	57303715	Nonstop_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54	57303715	140718715	3091	26593											
PDE12	201626	broad.mit.edu	37	chr3	57542583	57542583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaagtacaaggtggagcgCaacccgcccgccttcaccga	10	6	11	14	4	1	0	1	0	0	0	1	2	1	1	4	2	3	3	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57542583C>T	ENST00000311180.8	+	1	580	c.477C>T	c.(475-477)cgC>cgT	p.R159R	PDE12_ENST00000487257.1_Silent_p.R159R	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	159							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		AGGTGGAGCGCAACCCGCCCG	0.622													T	57542583	C	T	57542583	2	4	364	1	0	0	0	0	0	0	0	1	11708	697	25	2		2	PDE12	3	57542583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238868	57542583	140479847	3092	26594											
SLMAP	7871	broad.mit.edu	37	chr3	57850573	57850573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaaactcttaaagaatGcagcagcttgggtaggtggc	13	8	14	6	0	1	2	0	0	1	2	1	3	1	2	0	4	4	4	0	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57850573G>A	ENST00000383718.3	+	11	1273	c.1175G>A	c.(1174-1176)tGc>tAc	p.C392Y	SLMAP_ENST00000295952.3_Intron|SLMAP_ENST00000416870.1_Intron|SLMAP_ENST00000295951.3_Intron|SLMAP_ENST00000449503.2_Intron|SLMAP_ENST00000428312.1_Missense_Mutation_p.C392Y			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	392					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		CTTAAAGAATGCAGCAGCTTG	0.308													A	57850573	G	A	57850573	3	1	364	1	0	0	0	0	1	0	0	0	14843	1334	46	2		2	SLMAP	3	57850573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307990	57850573	140171857	3093	26595											
SLMAP	7871	broad.mit.edu	37	chr3	57894828	57894828	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagaagaaagaaaagcCtatcgaaatcaagttgagga	19	7	11	4	1	1	4	1	1	0	3	2	7	1	6	1	2	1	1	1	2	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:57894828C>A	ENST00000295951.3	+	17	2765	c.1548C>A	c.(1546-1548)gcC>gcA	p.A516A	SLMAP_ENST00000295952.3_Silent_p.A516A|SLMAP_ENST00000416870.1_Silent_p.A26A|SLMAP_ENST00000472546.1_Intron|SLMAP_ENST00000442599.2_Intron|SLMAP_ENST00000449503.2_Silent_p.A495A|SLMAP_ENST00000494088.1_Silent_p.A26A|SLMAP_ENST00000495364.1_Silent_p.A67A|SLMAP_ENST00000428312.1_Silent_p.A533A			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	533					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		AAAGAAAAGCCTATCGAAATC	0.333													A	57894828	C	A	57894828	2	1	364	1	0	0	0	0	0	0	0	1	14843	668	24	4		4	SLMAP	3	57894828	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44255	57894828	140127602	3094	26596											
FLNB	2317	broad.mit.edu	37	chr3	58080562	58080562	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgtaaacctgtggcaGgaatcgagcccactggaaac	11	8	12	10	1	1	0	0	0	1	0	2	3	1	2	2	3	3	2	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58080562G>T	ENST00000357272.4	+	5	952		c.e5-1		FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000295956.4_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACCTGTGGCAGGAATCGAGCC	0.562													T	58080562	G	T	58080562	5	4	364	1	0	0	0	0	0	0	1	0	5983	1014	35	4	805	4	FLNB	3	58080562	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185734	58080562	139941868	3095	26597											
FLNB	2317	broad.mit.edu	37	chr3	58097997	58097997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaaggatttggatatcatCgataattatgactactctca	13	14	8	6	1	2	2	2	2	1	0	4	5	2	4	0	2	1	0	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58097997C>T	ENST00000357272.4	+	18	2862	c.2697C>T	c.(2695-2697)atC>atT	p.I899I	FLNB_ENST00000419752.2_Silent_p.I730I|FLNB_ENST00000493452.1_Silent_p.I730I|FLNB_ENST00000429972.2_Silent_p.I899I|FLNB_ENST00000358537.3_Silent_p.I899I|FLNB_ENST00000490882.1_Silent_p.I899I|FLNB_ENST00000348383.5_Silent_p.I899I|FLNB_ENST00000295956.4_Silent_p.I899I			O75369	FLNB_HUMAN	filamin B, beta	899					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGGATATCATCGATAATTATG	0.547													T	58097997	C	T	58097997	2	4	364	1	0	0	0	0	0	0	0	1	5983	874	31	1		1	FLNB	3	58097997	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17435	58097997	139924433	3096	26598											
FLNB	2317	broad.mit.edu	37	chr3	58132695	58132695	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgacaagcacatccctggCagccccttcacagccaagat	13	6	7	15	0	1	2	1	1	0	1	2	2	2	2	4	1	3	2	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58132695C>T	ENST00000357272.4	+	34	5868	c.5703C>T	c.(5701-5703)ggC>ggT	p.G1901G	FLNB_ENST00000419752.2_Silent_p.G1721G|FLNB_ENST00000493452.1_Silent_p.G1708G|FLNB_ENST00000429972.2_Silent_p.G1890G|FLNB_ENST00000358537.3_Silent_p.G1877G|FLNB_ENST00000490882.1_Silent_p.G1932G|FLNB_ENST00000348383.5_Silent_p.G1901G|FLNB_ENST00000295956.4_Silent_p.G1901G			O75369	FLNB_HUMAN	filamin B, beta	1901	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACATCCCTGGCAGCCCCTTCA	0.542													T	58132695	C	T	58132695	2	4	364	1	0	0	0	0	0	0	0	1	5983	697	25	2		2	FLNB	3	58132695	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34698	58132695	139889735	3097	26599											
FLNB	2317	broad.mit.edu	37	chr3	58134478	58134478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctatcatggtggtccagtCggagattggtgacgcccgcc	6	10	14	11	3	2	2	1	1	1	1	4	3	3	2	3	4	0	0	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58134478C>T	ENST00000357272.4	+	36	6155	c.5990C>T	c.(5989-5991)tCg>tTg	p.S1997L	FLNB_ENST00000419752.2_Missense_Mutation_p.S1817L|FLNB_ENST00000493452.1_Missense_Mutation_p.S1804L|FLNB_ENST00000429972.2_Missense_Mutation_p.S1986L|FLNB_ENST00000358537.3_Missense_Mutation_p.S1973L|FLNB_ENST00000490882.1_Missense_Mutation_p.S2028L|FLNB_ENST00000348383.5_Missense_Mutation_p.S1997L|FLNB_ENST00000295956.4_Missense_Mutation_p.S1997L			O75369	FLNB_HUMAN	filamin B, beta	1997	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		GTGGTCCAGTCGGAGATTGGT	0.567													T	58134478	C	T	58134478	3	4	364	1	0	0	0	0	1	0	0	0	5983	893	31	1	6229	1	FLNB	3	58134478	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1783	58134478	139887952	3098	26600											
FLNB	2317	broad.mit.edu	37	chr3	58135653	58135653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctggaagatggcacCtgcaaagtctcctacttccc	10	8	10	13	0	1	1	0	0	1	1	3	4	2	3	4	3	2	2	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58135653C>A	ENST00000357272.4	+	37	6333	c.6168C>A	c.(6166-6168)acC>acA	p.T2056T	FLNB_ENST00000419752.2_Silent_p.T1876T|FLNB_ENST00000493452.1_Silent_p.T1863T|FLNB_ENST00000429972.2_Silent_p.T2045T|FLNB_ENST00000358537.3_Silent_p.T2032T|FLNB_ENST00000490882.1_Silent_p.T2087T|FLNB_ENST00000348383.5_Silent_p.T2056T|FLNB_ENST00000295956.4_Silent_p.T2056T			O75369	FLNB_HUMAN	filamin B, beta	2056	Interaction with the cytoplasmic tail of GP1BA.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AAGATGGCACCTGCAAAGTCT	0.567													A	58135653	C	A	58135653	2	1	364	1	0	0	0	0	0	0	0	1	5983	668	24	4		4	FLNB	3	58135653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1175	58135653	139886777	3099	26601											
FLNB	2317	broad.mit.edu	37	chr3	58139357	58139357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggagagaggagaagCgggagtcccaggtgagcatt	10	6	18	7	1	0	3	0	1	0	2	1	7	1	5	2	5	2	1	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58139357C>T	ENST00000295956.4	+	39	6788	c.6623C>T	c.(6622-6624)gCg>gTg	p.A2208V	FLNB_ENST00000419752.2_Missense_Mutation_p.A2028V|FLNB_ENST00000493452.1_Missense_Mutation_p.A2015V|FLNB_ENST00000429972.2_Missense_Mutation_p.A2197V|FLNB_ENST00000358537.3_Missense_Mutation_p.A2184V|FLNB_ENST00000490882.1_Missense_Mutation_p.A2239V|FLNB_ENST00000348383.5_Missense_Mutation_p.A2167V|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2208	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.A2239V(1)|p.A2208V(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		AGAGGAGAAGCGGGAGTCCCA	0.607													T	58139357	C	T	58139357	3	4	364	1	0	0	0	0	1	0	0	0	5983	768	27	1	6874	1	FLNB	3	58139357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3704	58139357	139883073	3100	26602											
DNASE1L3	1776	broad.mit.edu	37	chr3	58179141	58179141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaacaacagaactgaCgatttcttgtcctctaagca	12	11	8	10	1	2	2	0	1	2	1	3	4	3	3	1	1	4	1	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58179141C>T	ENST00000483681.1	-	9	1311	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	DNASE1L3_ENST00000318316.3_Missense_Mutation_p.V244I|DNASE1L3_ENST00000394549.2_Missense_Mutation_p.V244I|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.V214I			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	244					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		ACAGAACTGACGATTTCTTGT	0.438													T	58179141	C	T	58179141	3	4	364	1	0	0	0	0	1	0	0	0	4702	536	19	1	195	1	DNASE1L3	3	58179141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39784	58179141	139843289	3101	26603											
ACOX2	8309	broad.mit.edu	37	chr3	58510329	58510329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggtagctcttcaccagGaacctgggggttggaagagg	9	8	16	8	0	2	1	1	0	1	1	2	3	2	3	2	6	3	4	2	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58510329G>T	ENST00000302819.5	-	11	1641	c.1350C>A	c.(1348-1350)ttC>ttA	p.F450L	ACOX2_ENST00000459701.2_Missense_Mutation_p.F436L	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	450					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		TCTTCACCAGGAACCTGGGGG	0.592													T	58510329	G	T	58510329	3	4	364	1	0	0	0	0	1	0	0	0	159	1165	41	4	715	4	ACOX2	3	58510329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	331188	58510329	139512101	3102	26604											
ACOX2	8309	broad.mit.edu	37	chr3	58519234	58519234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatcacaaactcctgggtgGctgcgtcataggtggcttca	8	11	12	10	1	3	0	3	0	0	0	4	0	4	0	1	4	2	3	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58519234G>A	ENST00000302819.5	-	5	812	c.521C>T	c.(520-522)gCc>gTc	p.A174V	ACOX2_ENST00000459701.2_Missense_Mutation_p.A174V	NM_003500.3	NP_003491.1	Q99424	ACOX2_HUMAN	acyl-CoA oxidase 2, branched chain	174					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3alpha,7alpha,12alpha-trihydroxy-5beta-cholestanoyl-CoA 24-hydroxylase activity|acyl-CoA dehydrogenase activity|pristanoyl-CoA oxidase activity			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)|skin(3)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(55;0.000194)|Kidney(10;0.00255)|KIRC - Kidney renal clear cell carcinoma(10;0.00268)|OV - Ovarian serous cystadenocarcinoma(275;0.156)		CTCCTGGGTGGCTGCGTCATA	0.547											OREG0015638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58519234	G	A	58519234	3	1	364	1	0	0	0	0	1	0	0	0	159	1203	42	2	1568	2	ACOX2	3	58519234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8905	58519234	139503196	3103	26605											
C3orf67	200844	broad.mit.edu	37	chr3	58856000	58856000	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcttgatttttactgtTccgtgtaatacttgttcctc	8	19	5	9	1	1	1	0	1	1	0	4	1	3	1	2	0	3	3	2	0	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:58856000T>G	ENST00000472469.1	-	7	974	c.136A>C	c.(136-138)Aac>Cac	p.N46H	C3orf67_ENST00000295966.7_Missense_Mutation_p.N126H|RP11-147N17.1_ENST00000482372.1_RNA|RP11-147N17.1_ENST00000493123.1_RNA|RP11-147N17.1_ENST00000492031.1_RNA|RP11-147N17.1_ENST00000463703.1_RNA|C3orf67_ENST00000482387.1_Missense_Mutation_p.N126H			Q6ZVT6	CC067_HUMAN	chromosome 3 open reading frame 67	126										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(3)|prostate(2)|skin(1)	19		all_cancers(2;0.000156)|all_epithelial(2;0.000493)|Breast(2;0.00446)|all_lung(2;0.074)|Lung NSC(2;0.248)		BRCA - Breast invasive adenocarcinoma(55;5.93e-06)|Kidney(10;0.00155)|KIRC - Kidney renal clear cell carcinoma(10;0.00172)|OV - Ovarian serous cystadenocarcinoma(275;0.23)		TTTTTACTGTTCCGTGTAATA	0.383													G	58856000	T	G	58856000	3	3	364	1	0	0	0	0	1	0	0	0	2262	1783	62	5	1351	5	C3orf67	3	58856000	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	336766	58856000	139166430	3104	26606											
PTPRG	5793	broad.mit.edu	37	chr3	62063840	62063840	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaattgttcttacagatgCagattttcttttacaatcca	11	19	4	7	0	2	2	0	0	2	2	3	2	3	2	1	0	3	2	1	0	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62063840C>T	ENST00000474889.1	+	5	900	c.523C>T	c.(523-525)Cag>Tag	p.Q175*	PTPRG_ENST00000295874.10_Nonsense_Mutation_p.Q175*	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	175	Alpha-carbonic anhydrase.				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)		CTTACAGATGCAGATTTTCTT	0.303													T	62063840	C	T	62063840	4	4	364	1	0	0	0	0	0	1	0	0	12890	711	25	2	541	2	PTPRG	3	62063840	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3207840	62063840	135958590	3105	26607											
PTPRG	5793	broad.mit.edu	37	chr3	62254828	62254828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtcgtttttcaatcagaaAtacaaaagtgaaaaaggtat	17	12	7	5	2	2	2	2	1	0	1	4	2	2	2	0	1	1	2	0	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62254828A>G	ENST00000474889.1	+	20	3370	c.2993A>G	c.(2992-2994)aAt>aGt	p.N998S	PTPRG-AS1_ENST00000475371.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.N969S|PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	998	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)		TCAATCAGAAATACAAAAGTG	0.403													G	62254828	A	G	62254828	3	3	364	1	0	0	0	0	1	0	0	0	12890	101	4	3	3071	3	PTPRG	3	62254828	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	190988	62254828	135767602	3106	26608											
CADPS	8618	broad.mit.edu	37	chr3	62385182	62385182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcctccacagtgagacGgttccggatcgtttcatagg	7	11	12	11	3	1	1	1	1	0	1	5	3	4	2	3	4	0	3	3	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385182G>A	ENST00000383710.4	-	30	4310	c.3961C>T	c.(3961-3963)Cgt>Tgt	p.R1321C	CADPS_ENST00000357948.3_Missense_Mutation_p.R1242C|CADPS_ENST00000283269.9_Missense_Mutation_p.R1282C	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1321	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		ACAGTGAGACGGTTCCGGATC	0.498													A	62385182	G	A	62385182	3	1	364	1	0	0	0	0	1	0	0	0	2596	1116	39	1	104	1	CADPS	3	62385182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130354	62385182	135637248	3107	26609											
CADPS	8618	broad.mit.edu	37	chr3	62385245	62385245	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaccccttgcaatcggaAatctctgtaggttttctaag	10	12	9	10	1	2	0	0	0	2	0	4	2	2	2	2	3	1	3	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62385245A>G	ENST00000383710.4	-	30	4247	c.3898T>C	c.(3898-3900)Ttc>Ctc	p.F1300L	CADPS_ENST00000357948.3_Missense_Mutation_p.F1221L|CADPS_ENST00000283269.9_Missense_Mutation_p.F1261L	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1300	Mediates targeting and association with DCVs (By similarity).				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		TGCAATCGGAAATCTCTGTAG	0.488													G	62385245	A	G	62385245	3	3	364	1	0	0	0	0	1	0	0	0	2596	14	1	3	167	3	CADPS	3	62385245	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	63	62385245	135637185	3108	26610											
CADPS	8618	broad.mit.edu	37	chr3	62452065	62452065	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcttcaattagttcGtctatttttgaatggtattg	9	20	7	5	1	3	1	1	1	2	0	4	1	3	1	0	1	0	3	0	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62452065G>A	ENST00000383710.4	-	25	3850	c.3501C>T	c.(3499-3501)gaC>gaT	p.D1167D	CADPS_ENST00000357948.3_Silent_p.D1088D|CADPS_ENST00000283269.9_Silent_p.D1128D|CADPS_ENST00000462768.1_5'UTR	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1167					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAATTAGTTCGTCTATTTTTG	0.363													A	62452065	G	A	62452065	2	1	364	1	0	0	0	0	0	0	0	1	2596	1136	40	1		1	CADPS	3	62452065	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66820	62452065	135570365	3109	26611											
CADPS	8618	broad.mit.edu	37	chr3	62484908	62484908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagacgtattgtatcttcaaGctttttggcaggagtgatta	11	15	10	5	1	2	2	1	1	1	1	2	3	2	3	0	2	1	4	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62484908G>A	ENST00000383710.4	-	18	2984	c.2635C>T	c.(2635-2637)Ctt>Ttt	p.L879F	CADPS_ENST00000357948.3_Missense_Mutation_p.L856F|CADPS_ENST00000283269.9_Missense_Mutation_p.L896F	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	879	Interaction with DRD2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GTATCTTCAAGCTTTTTGGCA	0.428													A	62484908	G	A	62484908	3	1	364	1	0	0	0	0	1	0	0	0	2596	971	34	2	1478	2	CADPS	3	62484908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32843	62484908	135537522	3110	26612											
CADPS	8618	broad.mit.edu	37	chr3	62631505	62631505	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatttgaggccttggactTccataattaccacctgaaaa	14	11	7	9	0	0	3	0	2	0	1	1	4	1	4	4	2	1	0	4	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62631505T>C	ENST00000383710.4	-	6	1566	c.1217A>G	c.(1216-1218)gAa>gGa	p.E406G	CADPS_ENST00000357948.3_Missense_Mutation_p.E406G|CADPS_ENST00000490353.2_Missense_Mutation_p.E406G|CADPS_ENST00000283269.9_Missense_Mutation_p.E406G	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	406	C2.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTTGGACTTCCATAATTAC	0.468													C	62631505	T	C	62631505	3	2	364	1	0	0	0	0	1	0	0	0	2596	1783	62	3	3017	3	CADPS	3	62631505	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	146597	62631505	135390925	3111	26613											
CADPS	8618	broad.mit.edu	37	chr3	62751556	62751556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattctcacctcatagtaaCtctgcacagcgttcatgaag	11	12	7	11	1	4	2	3	2	2	0	5	2	4	2	1	0	3	3	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:62751556C>A	ENST00000383710.4	-	2	894	c.545G>T	c.(544-546)aGt>aTt	p.S182I	CADPS_ENST00000357948.3_Missense_Mutation_p.S182I|CADPS_ENST00000490353.2_Missense_Mutation_p.S182I|CADPS_ENST00000283269.9_Missense_Mutation_p.S182I	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	182					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CTCATAGTAACTCTGCACAGC	0.522													A	62751556	C	A	62751556	3	1	364	1	0	0	0	0	1	0	0	0	2596	565	20	4	3705	4	CADPS	3	62751556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120051	62751556	135270874	3112	26614											
SYNPR	132204	broad.mit.edu	37	chr3	63466615	63466615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcagcatcgacatagcGtttgcctacccattcaggta	11	10	7	13	2	2	0	2	0	0	0	3	1	2	0	3	1	5	3	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63466615G>A	ENST00000478300.1	+	3	603	c.192G>A	c.(190-192)gcG>gcA	p.A64A	SYNPR_ENST00000465156.1_Silent_p.A44A|SYNPR_ENST00000479198.1_Silent_p.A44A|SYNPR_ENST00000295894.5_Silent_p.A44A|SYNPR-AS1_ENST00000488201.1_RNA|SYNPR_ENST00000478744.1_3'UTR|SYNPR_ENST00000460711.1_Silent_p.A55A	NM_001130003.1	NP_001123475.1	Q8TBG9	SYNPR_HUMAN	synaptoporin	44	MARVEL.					cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	transporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8				BRCA - Breast invasive adenocarcinoma(55;0.000918)|KIRC - Kidney renal clear cell carcinoma(15;0.0658)|Kidney(15;0.0904)		TCGACATAGCGTTTGCCTACC	0.478													A	63466615	G	A	63466615	2	1	364	1	0	0	0	0	0	0	0	1	15556	1132	40	1		1	SYNPR	3	63466615	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	715059	63466615	134555815	3113	26615											
ATXN7	6314	broad.mit.edu	37	chr3	63973901	63973901	+	Missense_Mutation	SNP	C	C	T																															gcatcccgcccctcctagaaCgtcacaggagccgcaccaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973901C>T	ENST00000398590.3	+	9	1815	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M	ATXN7_ENST00000538065.1_Missense_Mutation_p.T421M|ATXN7_ENST00000295900.6_Missense_Mutation_p.T421M|ATXN7_ENST00000484332.1_Missense_Mutation_p.T276M|ATXN7_ENST00000487717.1_Missense_Mutation_p.T421M	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	421	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CCTCCTAGAACGTCACAGGAG	0.537													T	63973901	C	T	63973901	3	4	364	1	0	0	0	0	1	0	0	0	1220	536	19	1	1356	1	ATXN7	3	63973901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	507286	63973901	134048529	3114	26616	52	2									
ATXN7	6314	broad.mit.edu	37	chr3	63973906	63973906	+	Nonsense_Mutation	SNP	C	C	T																															ccgcccctcctagaacgtcaCaggagccgcaccaaaaccct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:63973906C>T	ENST00000398590.3	+	9	1820	c.1267C>T	c.(1267-1269)Cag>Tag	p.Q423*	ATXN7_ENST00000538065.1_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000295900.6_Nonsense_Mutation_p.Q423*|ATXN7_ENST00000484332.1_Nonsense_Mutation_p.Q278*|ATXN7_ENST00000487717.1_Nonsense_Mutation_p.Q423*	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	423	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		TAGAACGTCACAGGAGCCGCA	0.532													T	63973906	C	T	63973906	4	4	364	1	0	0	0	0	0	1	0	0	1220	479	17	2	1361	2	ATXN7	3	63973906	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5	63973906	134048524	3115	26617	52	2									
PRICKLE2	166336	broad.mit.edu	37	chr3	64085353	64085353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctctgatgcatccttcCgtgggactgcaggtctctgt	7	12	11	11	1	2	1	0	1	2	0	5	2	4	2	2	2	3	3	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64085353C>T	ENST00000295902.6	-	8	2494	c.1909G>A	c.(1909-1911)Gga>Aga	p.G637R	RP11-129B22.1_ENST00000482609.1_RNA|PRICKLE2_ENST00000564377.1_Missense_Mutation_p.G693R|PRICKLE2-AS1_ENST00000476308.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	637						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		TGCATCCTTCCGTGGGACTGC	0.602													T	64085353	C	T	64085353	3	4	364	1	0	0	0	0	1	0	0	0	12573	661	23	1	629	1	PRICKLE2	3	64085353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111447	64085353	133937077	3116	26618											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133006	64133006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggggtcccggttgaggCtgggtgtctggctggacagg	5	9	20	7	1	1	2	0	1	1	1	2	3	2	3	1	8	0	3	1	8	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133006C>T	ENST00000295902.6	-	7	1745	c.1160G>A	c.(1159-1161)aGc>aAc	p.S387N	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.S443N	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	387						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCGGTTGAGGCTGGGTGTCTG	0.607													T	64133006	C	T	64133006	3	4	364	1	0	0	0	0	1	0	0	0	12573	797	28	2	1382	2	PRICKLE2	3	64133006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47653	64133006	133889424	3117	26619											
PRICKLE2	166336	broad.mit.edu	37	chr3	64133153	64133153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttgttcttgccaattttgGcactgcgccgggactccttg	4	14	10	13	2	1	0	0	0	1	0	2	1	2	1	4	2	2	2	4	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64133153G>A	ENST00000295902.6	-	7	1598	c.1013C>T	c.(1012-1014)gCc>gTc	p.A338V	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.A394V	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	338						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCCAATTTTGGCACTGCGCCG	0.602													A	64133153	G	A	64133153	3	1	364	1	0	0	0	0	1	0	0	0	12573	1203	42	2	1529	2	PRICKLE2	3	64133153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147	64133153	133889277	3118	26620											
PRICKLE2	166336	broad.mit.edu	37	chr3	64145736	64145736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcttctcttcctcatccagGgagttgcaatatcgaacctg	8	13	7	13	1	3	0	1	0	2	0	7	2	5	1	3	1	2	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64145736G>A	ENST00000295902.6	-	4	861	c.276C>T	c.(274-276)tcC>tcT	p.S92S	PRICKLE2_ENST00000564377.1_Silent_p.S148S	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	92	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		CCTCATCCAGGGAGTTGCAAT	0.493													A	64145736	G	A	64145736	2	1	364	1	0	0	0	0	0	0	0	1	12573	1219	43	2		2	PRICKLE2	3	64145736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12583	64145736	133876694	3119	26621											
PRICKLE2	166336	broad.mit.edu	37	chr3	64184478	64184478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttcaggcttcagaccCggcgggacccaggcatactc	8	7	11	15	2	2	1	2	0	0	1	3	2	2	2	3	4	1	3	3	4	1	3	rs145790169		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184478C>T	ENST00000295902.6	-	2	711	c.126G>A	c.(124-126)ccG>ccA	p.P42P	PRICKLE2_ENST00000564377.1_Silent_p.P98P|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	42	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GCTTCAGACCCGGCGGGACCC	0.512													T	64184478	C	T	64184478	2	4	364	1	0	0	0	0	0	0	0	1	12573	639	23	1		1	PRICKLE2	3	64184478	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38742	64184478	133837952	3120	26622											
PRICKLE2	166336	broad.mit.edu	37	chr3	64184562	64184562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagtcaaacatgagtttGctgatggtcttctccatctc	10	14	8	9	0	4	3	1	3	3	0	6	3	4	3	1	1	2	2	1	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64184562G>A	ENST00000295902.6	-	2	627	c.42C>T	c.(40-42)agC>agT	p.S14S	PRICKLE2_ENST00000564377.1_Silent_p.S70S|PRICKLE2-AS3_ENST00000473434.1_RNA	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	14						cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		ACATGAGTTTGCTGATGGTCT	0.542													A	64184562	G	A	64184562	2	1	364	1	0	0	0	0	0	0	0	1	12573	1310	46	2		2	PRICKLE2	3	64184562	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84	64184562	133837868	3121	26623											
ADAMTS9	56999	broad.mit.edu	37	chr3	64601050	64601050	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggaactcactgcacctctGaatggtaactttctcttgat	10	13	8	10	0	3	2	1	2	2	0	4	3	3	3	1	2	3	2	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64601050G>A	ENST00000498707.1	-	21	3478	c.3136C>T	c.(3136-3138)Cag>Tag	p.Q1046*	ADAMTS9_ENST00000295903.4_Nonsense_Mutation_p.Q1018*	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1046	TSP type-1 4.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGCACCTCTGAATGGTAACT	0.478													A	64601050	G	A	64601050	4	1	364	1	0	0	0	0	0	1	0	0	273	1299	45	2	2747	2	ADAMTS9	3	64601050	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416488	64601050	133421380	3122	26624											
ADAMTS9	56999	broad.mit.edu	37	chr3	64617176	64617176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgagaaactgtgctgccGcacatcaatattggtagcac	11	9	9	12	1	1	1	1	1	0	1	1	2	1	1	2	1	4	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:64617176G>A	ENST00000498707.1	-	16	2686	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R754W	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	782	Spacer.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CTGTGCTGCCGCACATCAATA	0.463													A	64617176	G	A	64617176	3	1	364	1	0	0	0	0	1	0	0	0	273	1086	38	1	3559	1	ADAMTS9	3	64617176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16126	64617176	133405254	3123	26625											
MAGI1	9223	broad.mit.edu	37	chr3	65369212	65369212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagcaaaagactcacaggttCccctggttcatttccaccca	12	9	6	14	0	2	1	2	0	0	1	4	1	4	1	4	2	1	3	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65369212C>T	ENST00000330909.8	-	16	2586	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	MAGI1_ENST00000402939.2_Missense_Mutation_p.E835K|MAGI1_ENST00000483466.1_Missense_Mutation_p.E863K|MAGI1_ENST00000497477.2_Missense_Mutation_p.E835K	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	863	PDZ 4.				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CTCACAGGTTCCCCTGGTTCA	0.448													T	65369212	C	T	65369212	3	4	364	1	0	0	0	0	1	0	0	0	9265	864	30	2	2067	2	MAGI1	3	65369212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	752036	65369212	132653218	3124	26626											
MAGI1	9223	broad.mit.edu	37	chr3	65425626	65425626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgctgctcaaGctgcttcttccgtttggctt	2	16	10	13	1	2	0	1	0	1	0	3	0	3	0	1	1	7	9	1	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:65425626G>T	ENST00000330909.8	-	9	1197	c.1198C>A	c.(1198-1200)Ctt>Att	p.L400I	MAGI1_ENST00000402939.2_Missense_Mutation_p.L400I|MAGI1_ENST00000470990.1_5'UTR|MAGI1_ENST00000483466.1_Missense_Mutation_p.L400I|MAGI1_ENST00000497477.2_Missense_Mutation_p.L400I	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	400					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		tgctgctCAAGCTGCTTCTTC	0.502											OREG0015658	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65425626	G	T	65425626	3	4	364	1	0	0	0	0	1	0	0	0	9265	971	34	4	3484	4	MAGI1	3	65425626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56414	65425626	132596804	3125	26627											
LRIG1	26018	broad.mit.edu	37	chr3	66465424	66465424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggcgaagagttagcagCgaccgtgacagaccatcaaa	14	5	11	11	3	2	3	2	1	0	2	2	5	2	3	2	1	2	2	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66465424C>T	ENST00000383703.3	-	5	1170	c.567G>A	c.(565-567)tcG>tcA	p.S189S	LRIG1_ENST00000273261.3_Silent_p.S189S			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	189						integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		GAGTTAGCAGCGACCGTGACA	0.502													T	66465424	C	T	66465424	2	4	364	1	0	0	0	0	0	0	0	1	9014	755	27	1		1	LRIG1	3	66465424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1039798	66465424	131557006	3126	26628											
LRIG1	26018	broad.mit.edu	37	chr3	66502059	66502059	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattattattgaggtaccTgtaacaacaacaagaaatta	17	12	5	7	0	1	2	1	1	0	1	1	2	1	2	1	1	4	2	1	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:66502059T>C	ENST00000383703.3	-	3	894		c.e3-2		LRIG1_ENST00000273261.3_Splice_Site			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1							integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		TTGAGGTACCTGTAACAACAA	0.418													C	66502059	T	C	66502059	5	2	364	1	0	0	0	0	0	0	1	0	9014	1594	55	3	3060	3	LRIG1	3	66502059	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36635	66502059	131520371	3127	26629											
SUCLG2	8801	broad.mit.edu	37	chr3	67546270	67546270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgatatacttgagcttcCtttacaccacctccaagatc	10	13	5	13	0	0	3	0	2	0	1	3	3	2	3	4	0	3	2	4	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:67546270C>A	ENST00000307227.5	-	9	1041	c.1014G>T	c.(1012-1014)aaG>aaT	p.K338N	SUCLG2_ENST00000493112.1_Missense_Mutation_p.K338N|SUCLG2_ENST00000492795.1_Missense_Mutation_p.K338N	NM_003848.3	NP_003839.2	Q96I99	SUCB2_HUMAN	succinate-CoA ligase, GDP-forming, beta subunit	338					succinyl-CoA metabolic process|tricarboxylic acid cycle	mitochondrial matrix	ATP binding|GTP binding|succinate-CoA ligase (GDP-forming) activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	10		Renal(2;0.00294)|Lung NSC(201;0.012)|Hepatocellular(537;0.121)		BRCA - Breast invasive adenocarcinoma(55;3.53e-05)|Epithelial(33;0.000153)	Succinic acid(DB00139)	CTTGAGCTTCCTTTACACCAC	0.433													A	67546270	C	A	67546270	3	1	364	1	0	0	0	0	1	0	0	0	15461	680	24	4	440	4	SUCLG2	3	67546270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1044211	67546270	130476160	3128	26630											
TMF1	7110	broad.mit.edu	37	chr3	69075205	69075205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccacttattgaacttgagCgtgacatggtgggagtgcta	10	11	12	8	1	0	3	0	3	0	0	0	4	0	4	1	2	3	1	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69075205C>T	ENST00000543976.1	-	14	3056	c.2810G>A	c.(2809-2811)cGc>cAc	p.R937H	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.R934H|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|TMF1_ENST00000489370.1_5'UTR|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	934					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TGAACTTGAGCGTGACATGGT	0.358													T	69075205	C	T	69075205	3	4	364	1	0	0	0	0	1	0	0	0	16328	768	27	1	496	1	TMF1	3	69075205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1528935	69075205	128947225	3129	26631											
TMF1	7110	broad.mit.edu	37	chr3	69079032	69079032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagctgggcttgaaatctaCtgttttcctgtcttaaaaga	10	15	8	8	0	2	2	0	1	2	1	3	2	3	2	1	1	2	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69079032C>T	ENST00000543976.1	-	11	2783	c.2537G>A	c.(2536-2538)aGt>aAt	p.S846N	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000601511.1_RNA|CTD-2013N24.2_ENST00000597366.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.S843N|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000599467.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	843					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TTGAAATCTACTGTTTTCCTG	0.403													T	69079032	C	T	69079032	3	4	364	1	0	0	0	0	1	0	0	0	16328	565	20	2	781	2	TMF1	3	69079032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3827	69079032	128943398	3130	26632											
TMF1	7110	broad.mit.edu	37	chr3	69088055	69088055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaagttcatccatgtCtacctgaagacggccaagat	11	12	7	11	1	4	3	2	1	2	2	5	3	5	3	3	1	1	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69088055C>A	ENST00000543976.1	-	7	2188	c.1942G>T	c.(1942-1944)Gac>Tac	p.D648Y	CTD-2013N24.2_ENST00000598783.1_RNA|CTD-2013N24.2_ENST00000601735.1_RNA|CTD-2013N24.2_ENST00000596523.1_RNA|CTD-2013N24.2_ENST00000595925.1_RNA|CTD-2013N24.2_ENST00000597950.1_RNA|CTD-2013N24.2_ENST00000596274.1_RNA|TMF1_ENST00000398559.2_Missense_Mutation_p.D645Y|CTD-2013N24.2_ENST00000596732.1_RNA|CTD-2013N24.2_ENST00000482368.2_RNA	NM_007114.2	NP_009045.2	P82094	TMF1_HUMAN	TATA element modulatory factor 1	645					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi membrane|nucleus	DNA binding|protein binding|transcription cofactor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;4.48e-05)|Epithelial(33;0.000274)|LUSC - Lung squamous cell carcinoma(21;0.0123)|KIRC - Kidney renal clear cell carcinoma(39;0.211)|Kidney(39;0.247)		TCATCCATGTCTACCTGAAGA	0.373													A	69088055	C	A	69088055	3	1	364	1	0	0	0	0	1	0	0	0	16328	913	32	4	1392	4	TMF1	3	69088055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9023	69088055	128934375	3131	26633											
UBA3	9039	broad.mit.edu	37	chr3	69120750	69120750	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatctataacatgaatctGtctaaaaccagacaaggcct	16	10	5	10	0	3	2	0	1	3	1	3	2	3	2	2	1	2	0	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69120750G>A	ENST00000361055.4	-	5	337	c.283C>T	c.(283-285)Cag>Tag	p.Q95*	UBA3_ENST00000349511.4_Nonsense_Mutation_p.Q81*|UBA3_ENST00000540295.1_Intron|UBA3_ENST00000415609.2_Nonsense_Mutation_p.Q54*	NM_003968.3	NP_003959.3	Q8TBC4	UBA3_HUMAN	ubiquitin-like modifier activating enzyme 3	95					protein neddylation|proteolysis	nucleus	acid-amino acid ligase activity|ATP binding|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.98e-05)|Epithelial(33;0.000363)|LUSC - Lung squamous cell carcinoma(21;0.012)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.206)|Kidney(39;0.241)		ACATGAATCTGTCTAAAACCA	0.299													A	69120750	G	A	69120750	4	1	364	1	0	0	0	0	0	1	0	0	16931	1386	48	2	1164	2	UBA3	3	69120750	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32695	69120750	128901680	3132	26634											
ARL6IP5	10550	broad.mit.edu	37	chr3	69151036	69151036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggaatcgtggtggtgCtggtgttcacagggtttgtg	5	13	19	4	1	1	0	1	0	0	0	2	2	1	2	0	6	1	3	0	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69151036C>T	ENST00000273258.3	+	2	327	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	ARL6IP5_ENST00000478935.1_Intron	NM_006407.3	NP_006398.1	O75915	PRAF3_HUMAN	ADP-ribosylation-like factor 6 interacting protein 5	75					L-glutamate transport	endoplasmic reticulum membrane|integral to membrane				biliary_tract(1)|endometrium(1)|large_intestine(2)|ovary(1)|prostate(1)|urinary_tract(1)	7		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.78e-05)|Epithelial(33;0.000818)|LUSC - Lung squamous cell carcinoma(21;0.0118)|Lung(16;0.0189)|KIRC - Kidney renal clear cell carcinoma(39;0.203)|Kidney(39;0.238)		CGTGGTGGTGCTGGTGTTCAC	0.502													T	69151036	C	T	69151036	2	4	364	1	0	0	0	0	0	0	0	1	949	796	28	2		2	ARL6IP5	3	69151036	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30286	69151036	128871394	3133	26635											
FRMD4B	23150	broad.mit.edu	37	chr3	69230239	69230239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggccttgtggatgttttTggtgatgtgctccgattttg	5	18	13	5	1	0	1	0	1	0	0	1	3	1	2	2	3	1	2	2	3	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:69230239T>C	ENST00000542259.1	-	22	2951	c.2500A>G	c.(2500-2502)Aaa>Gaa	p.K834E	FRMD4B_ENST00000398540.3_Missense_Mutation_p.K888E|FRMD4B_ENST00000478263.1_Missense_Mutation_p.K540E			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	888						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		TGGATGTTTTTGGTGATGTGC	0.567													C	69230239	T	C	69230239	3	2	364	1	0	0	0	0	1	0	0	0	6104	1821	63	3	454	3	FRMD4B	3	69230239	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79203	69230239	128792191	3134	26636											
FOXP1	27086	broad.mit.edu	37	chr3	71026811	71026811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgcctaattaaagatgCatatgtaaatggtggtctaa	14	13	8	6	0	1	1	0	0	1	1	1	1	1	1	2	2	3	2	2	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71026811C>T	ENST00000318789.4	-	16	1936	c.1411G>A	c.(1411-1413)Gca>Aca	p.A471T	FOXP1_ENST00000491238.1_Missense_Mutation_p.A473T|FOXP1_ENST00000468577.1_Missense_Mutation_p.A471T|FOXP1_ENST00000484350.1_Missense_Mutation_p.A395T|FOXP1_ENST00000498215.1_Missense_Mutation_p.A471T|FOXP1_ENST00000493089.1_Missense_Mutation_p.A470T|FOXP1_ENST00000475937.1_Missense_Mutation_p.A471T	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	471					cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		ATTAAAGATGCATATGTAAAT	0.299			T	PAX5	ALL								T	71026811	C	T	71026811	3	4	364	1	0	0	0	0	1	0	0	0	6077	710	25	2	646	2	FOXP1	3	71026811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1796572	71026811	126995619	3135	26637											
FOXP1	27086	broad.mit.edu	37	chr3	71102876	71102876	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggatctgctgcatttGctggggagtgataacttgag	8	12	15	6	0	1	2	0	2	1	0	1	5	1	5	0	4	4	3	0	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:71102876G>A	ENST00000318789.4	-	8	856	c.331C>T	c.(331-333)Caa>Taa	p.Q111*	FOXP1_ENST00000472382.1_5'UTR|FOXP1_ENST00000491238.1_Nonsense_Mutation_p.Q113*|FOXP1_ENST00000468577.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000498215.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000493089.1_Nonsense_Mutation_p.Q111*|FOXP1_ENST00000475937.1_Nonsense_Mutation_p.Q111*	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1	111	Gln-rich.				cardiac muscle cell differentiation|embryo development|immunoglobulin V(D)J recombination|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of immunoglobulin production|positive regulation of mesenchymal cell proliferation|pre-B cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|skeletal muscle tissue development|smooth muscle tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TGCTGCATTTGCTGGGGAGTG	0.507			T	PAX5	ALL								A	71102876	G	A	71102876	4	1	364	1	0	0	0	0	0	1	0	0	6077	1328	46	2	1758	2	FOXP1	3	71102876	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76065	71102876	126919554	3136	26638											
GXYLT2	727936	broad.mit.edu	37	chr3	73024186	73024187	+	Frame_Shift_Ins	INS	-	-	G																															ccccttcagctgaagtttttINSggagactgtgcacactttat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73024186_73024187insG	ENST00000389617.4	+	7	1369_1370	c.1208_1209insG	c.(1207-1212)ttggagfs	p.E404fs		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	404					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						CTGAAGTTTTTGGAGACTGTGC	0.371													G	73024187	-	G	73024186	7	5	364	1	0	1	1	0	0	0	0	0	6959	1821	63	0	1234	0	GXYLT2	3	73024186	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1921310	73024186	124998244	3137	26639											
PPP4R2	151987	broad.mit.edu	37	chr3	73096445	73096445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcctcccaaccctaatgtCgaatatattccctttgatga	10	13	6	12	1	0	2	0	2	0	0	4	3	3	2	4	1	1	0	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73096445C>T	ENST00000356692.5	+	3	478	c.225C>T	c.(223-225)gtC>gtT	p.V75V	PPP4R2_ENST00000295862.9_Silent_p.V19V|PPP4R2_ENST00000394284.3_Intron			Q9NY27	PP4R2_HUMAN	protein phosphatase 4, regulatory subunit 2	75					mRNA processing|protein modification process|regulation of double-strand break repair via homologous recombination|RNA splicing	centrosome|nucleus|protein phosphatase 4 complex	protein binding, bridging|protein phosphatase type 4 regulator activity			breast(2)|endometrium(1)|large_intestine(1)|lung(3)|skin(2)|stomach(1)|urinary_tract(2)	12		Prostate(10;0.0187)|Lung SC(41;0.236)		Epithelial(33;1.76e-07)|BRCA - Breast invasive adenocarcinoma(55;9.42e-05)|LUSC - Lung squamous cell carcinoma(21;0.00211)|Lung(16;0.00643)|KIRC - Kidney renal clear cell carcinoma(39;0.0164)|Kidney(39;0.0193)|OV - Ovarian serous cystadenocarcinoma(275;0.031)		ACCCTAATGTCGAATATATTC	0.348													T	73096445	C	T	73096445	2	4	364	1	0	0	0	0	0	0	0	1	12486	871	31	1		1	PPP4R2	3	73096445	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72259	73096445	124925985	3138	26640											
PDZRN3	23024	broad.mit.edu	37	chr3	73433282	73433282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacttcgggatcttccGtgatggagagcagattcttg	7	12	12	10	2	2	3	0	1	2	2	4	5	3	4	2	2	2	1	2	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73433282G>A	ENST00000263666.4	-	10	2549	c.2435C>T	c.(2434-2436)aCg>aTg	p.T812M	PDZRN3_ENST00000535920.1_Missense_Mutation_p.T534M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T469M|PDZRN3_ENST00000462146.2_Missense_Mutation_p.T469M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T529M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	812							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GGGATCTTCCGTGATGGAGAG	0.647													A	73433282	G	A	73433282	3	1	364	1	0	0	0	0	1	0	0	0	11785	1145	40	1	769	1	PDZRN3	3	73433282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	336837	73433282	124589148	3139	26641											
PDZRN3	23024	broad.mit.edu	37	chr3	73651590	73651590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatacaaagattccttcaCtggatgatccatcgtggtta	11	13	9	8	1	1	2	1	1	0	1	4	4	3	4	2	3	1	1	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:73651590C>T	ENST00000263666.4	-	3	947	c.833G>A	c.(832-834)aGt>aAt	p.S278N	PDZRN3_ENST00000308537.4_Missense_Mutation_p.S278N	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	278	PDZ 1.						ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		GATTCCTTCACTGGATGATCC	0.408													T	73651590	C	T	73651590	3	4	364	1	0	0	0	0	1	0	0	0	11785	565	20	2	2399	2	PDZRN3	3	73651590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218308	73651590	124370840	3140	26642											
CNTN3	5067	broad.mit.edu	37	chr3	74316426	74316426	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacttactttatatccTgttacttctgactcattctc	11	17	3	10	0	3	2	1	1	2	1	5	2	4	2	1	0	3	1	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74316426T>C	ENST00000263665.6	-	20	2835	c.2808A>G	c.(2806-2808)acA>acG	p.T936T	CNTN3_ENST00000477856.1_5'UTR	NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	936	Fibronectin type-III 4.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CTTTATATCCTGTTACTTCTG	0.358													C	74316426	T	C	74316426	2	2	364	1	0	0	0	0	0	0	0	1	3673	1567	55	3		3	CNTN3	3	74316426	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	664836	74316426	123706004	3141	26643											
CNTN3	5067	broad.mit.edu	37	chr3	74344360	74344360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagataggctatttgcaGagacttgagatggggccact	12	9	14	6	0	0	3	0	1	0	3	0	6	0	4	1	4	1	2	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74344360G>T	ENST00000263665.6	-	18	2456	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	810	Fibronectin type-III 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GCTATTTGCAGAGACTTGAGA	0.373													T	74344360	G	T	74344360	3	4	364	1	0	0	0	0	1	0	0	0	3673	942	33	4	677	4	CNTN3	3	74344360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27934	74344360	123678070	3142	26644											
CNTN3	5067	broad.mit.edu	37	chr3	74347325	74347325	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaaccttcaccattctgTagttcttcagggactggcta	10	12	7	12	0	4	0	2	0	2	0	4	1	4	1	3	2	1	3	3	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:74347325T>C	ENST00000263665.6	-	17	2211	c.2184A>G	c.(2182-2184)ctA>ctG	p.L728L		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	728	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CACCATTCTGTAGTTCTTCAG	0.463													C	74347325	T	C	74347325	2	2	364	1	0	0	0	0	0	0	0	1	3673	1625	57	3		3	CNTN3	3	74347325	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2965	74347325	123675105	3143	26645											
ROBO2	6092	broad.mit.edu	37	chr3	77147402	77147402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcatcgtgcacgggcgcaGgagtaaacctgatgaaggaa	12	5	15	9	4	0	2	0	2	0	0	1	4	0	4	1	3	2	4	1	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77147402G>T	ENST00000461745.1	+	2	1199	c.299G>T	c.(298-300)aGg>aTg	p.R100M	ROBO2_ENST00000332191.8_Missense_Mutation_p.R100M|ROBO2_ENST00000487694.3_Missense_Mutation_p.R116M	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	100	Ig-like C2-type 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CACGGGCGCAGGAGTAAACCT	0.537													T	77147402	G	T	77147402	3	4	364	1	0	0	0	0	1	0	0	0	13605	1000	35	4	307	4	ROBO2	3	77147402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2800077	77147402	120875028	3144	26646											
ROBO2	6092	broad.mit.edu	37	chr3	77600087	77600087	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttactacatctgccaggCtttaactgtggcaggaagca	10	10	12	9	0	1	0	0	0	1	0	1	1	1	1	1	4	5	4	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600087C>A	ENST00000461745.1	+	8	2078	c.1178C>A	c.(1177-1179)gCt>gAt	p.A393D	ROBO2_ENST00000332191.8_Missense_Mutation_p.A393D|ROBO2_ENST00000487694.3_Missense_Mutation_p.A409D	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	393	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ATCTGCCAGGCTTTAACTGTG	0.443													A	77600087	C	A	77600087	3	1	364	1	0	0	0	0	1	0	0	0	13605	797	28	4	1210	4	ROBO2	3	77600087	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	452685	77600087	120422343	3145	26647											
ROBO2	6092	broad.mit.edu	37	chr3	77600102	77600102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaggctttaactgtggcagGaagcattttagcaaaagctc	12	10	10	9	0	0	0	0	0	0	0	1	1	0	1	1	3	4	5	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77600102G>A	ENST00000461745.1	+	8	2093	c.1193G>A	c.(1192-1194)gGa>gAa	p.G398E	ROBO2_ENST00000332191.8_Missense_Mutation_p.G398E|ROBO2_ENST00000487694.3_Missense_Mutation_p.G414E	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	398	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		ACTGTGGCAGGAAGCATTTTA	0.413													A	77600102	G	A	77600102	3	1	364	1	0	0	0	0	1	0	0	0	13605	1174	41	2	1225	2	ROBO2	3	77600102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15	77600102	120422328	3146	26648											
ROBO2	6092	broad.mit.edu	37	chr3	77614262	77614262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcccatgtcagatcctgtgCgcacacaaggtactttcaac	10	10	8	13	1	2	1	2	0	0	1	4	1	4	1	2	1	3	2	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77614262C>T	ENST00000461745.1	+	12	2740	c.1840C>T	c.(1840-1842)Cgc>Tgc	p.R614C	ROBO2_ENST00000332191.8_Missense_Mutation_p.R614C|ROBO2_ENST00000487694.3_Missense_Mutation_p.R630C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	614					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGATCCTGTGCGCACACAAGG	0.468													T	77614262	C	T	77614262	3	4	364	1	0	0	0	0	1	0	0	0	13605	768	27	1	1888	1	ROBO2	3	77614262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14160	77614262	120408168	3147	26649											
ROBO2	6092	broad.mit.edu	37	chr3	77651375	77651375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagatgtgctgccaccaGttccaggccaaggggataaa	12	6	11	12	0	0	1	0	0	0	1	1	2	1	2	5	3	2	2	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:77651375G>T	ENST00000461745.1	+	20	3769	c.2869G>T	c.(2869-2871)Gtt>Ttt	p.V957F	ROBO2_ENST00000332191.8_Missense_Mutation_p.V957F|ROBO2_ENST00000487694.3_Missense_Mutation_p.V973F	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	957					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		GCTGCCACCAGTTCCAGGCCA	0.438													T	77651375	G	T	77651375	3	4	364	1	0	0	0	0	1	0	0	0	13605	1029	36	4	2949	4	ROBO2	3	77651375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37113	77651375	120371055	3148	26650											
ROBO1	6091	broad.mit.edu	37	chr3	78708951	78708951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaccttggggtggggcaCtgggtgctattaaattgttt	7	15	13	6	0	0	0	0	0	0	0	0	0	0	0	1	5	2	3	1	5	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78708951C>A	ENST00000436010.2	-	15	3207	c.2210G>T	c.(2209-2211)aGt>aTt	p.S737I	ROBO1_ENST00000464233.1_Missense_Mutation_p.S776I|ROBO1_ENST00000495273.1_Missense_Mutation_p.S740I|ROBO1_ENST00000467549.1_Missense_Mutation_p.S740I			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	776	Fibronectin type-III 2.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		GGGTGGGGCACTGGGTGCTAT	0.383													A	78708951	C	A	78708951	3	1	364	1	0	0	0	0	1	0	0	0	13604	565	20	4	2688	4	ROBO1	3	78708951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1057576	78708951	119313479	3149	26651											
ROBO1	6091	broad.mit.edu	37	chr3	78763663	78763663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcaaggtatgatcatctCggatttcatatctaatgaca	12	16	6	7	1	5	2	3	2	2	0	6	3	5	3	0	2	0	1	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:78763663C>T	ENST00000436010.2	-	6	1809	c.812G>A	c.(811-813)cGa>cAa	p.R271Q	ROBO1_ENST00000464233.1_Missense_Mutation_p.R310Q|ROBO1_ENST00000495273.1_Missense_Mutation_p.R271Q|ROBO1_ENST00000467549.1_Missense_Mutation_p.R271Q			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	310	Ig-like C2-type 3.				activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding			breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATGATCATCTCGGATTTCATA	0.378													T	78763663	C	T	78763663	3	4	364	1	0	0	0	0	1	0	0	0	13604	884	31	1	4135	1	ROBO1	3	78763663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54712	78763663	119258767	3150	26652											
GBE1	2632	broad.mit.edu	37	chr3	81584433	81584433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaagacctgctctttcaAaagcaatgatcttattgcct	14	12	6	9	0	3	3	1	1	2	2	3	3	3	3	2	0	3	2	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:81584433A>G	ENST00000429644.2	-	14	2490	c.1847T>C	c.(1846-1848)tTt>tCt	p.F616S	GBE1_ENST00000489715.1_Missense_Mutation_p.F575S	NM_000158.3	NP_000149	Q04446	GLGB_HUMAN	glucan (1,4-alpha-), branching enzyme 1	616					glucose metabolic process|glycogen biosynthetic process	cytosol	1,4-alpha-glucan branching enzyme activity|cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(5)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Lung NSC(201;0.0117)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0654)|Epithelial(33;0.00305)|LUSC - Lung squamous cell carcinoma(29;0.00646)|BRCA - Breast invasive adenocarcinoma(55;0.00813)|Lung(72;0.0129)|KIRC - Kidney renal clear cell carcinoma(39;0.212)|Kidney(39;0.247)		TGCTCTTTCAAAAGCAATGAT	0.388									Glycogen Storage Disease, type IV				G	81584433	A	G	81584433	3	3	364	1	0	0	0	0	1	0	0	0	6324	14	1	3	273	3	GBE1	3	81584433	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2820770	81584433	116437997	3151	26653											
CHMP2B	25978	broad.mit.edu	37	chr3	87294956	87294956	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctacggaaacagaagacGagaacttttgctgtaagttc	14	10	9	8	2	1	3	0	0	1	3	2	5	1	4	0	1	4	3	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:87294956G>A	ENST00000263780.4	+	3	457	c.219G>A	c.(217-219)acG>acA	p.T73T	CHMP2B_ENST00000494980.1_Silent_p.T73T|CHMP2B_ENST00000471660.1_Silent_p.T32T|CHMP2B_ENST00000472024.1_3'UTR	NM_014043.3	NP_054762.2	Q9UQN3	CHM2B_HUMAN	charged multivesicular body protein 2B	73					cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane|mitochondrion|nucleus	protein domain specific binding	p.T73T(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	12	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		AACAGAAGACGAGAACTTTTG	0.363													A	87294956	G	A	87294956	2	1	364	1	0	0	0	0	0	0	0	1	3385	1045	37	1		1	CHMP2B	3	87294956	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5710523	87294956	110727474	3152	26654											
HTR1F	3355	broad.mit.edu	37	chr3	88040645	88040645	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatcctatgtactagaaaAgtctttatctgacccatcaa	14	12	4	11	0	3	2	1	1	2	1	4	2	4	2	2	0	1	1	2	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040645A>C	ENST00000319595.4	+	1	800	c.746A>C	c.(745-747)aAg>aCg	p.K249T		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	249					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GTACTAGAAAAGTCTTTATCT	0.408													C	88040645	A	C	88040645	3	2	364	1	0	0	0	0	1	0	0	0	7498	72	3	5	748	5	HTR1F	3	88040645	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	745689	88040645	109981785	3153	26655											
HTR1F	3355	broad.mit.edu	37	chr3	88040979	88040979	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaagaaagcattccaaaaGcttgtgcgatgtcgatgtta	13	12	9	7	2	1	1	1	0	0	1	3	3	2	1	1	0	3	3	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88040979G>A	ENST00000319595.4	+	1	1134	c.1080G>A	c.(1078-1080)aaG>aaA	p.K360K		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	360					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	CATTCCAAAAGCTTGTGCGAT	0.338													A	88040979	G	A	88040979	2	1	364	1	0	0	0	0	0	0	0	1	7498	962	34	2		2	HTR1F	3	88040979	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	88040979	109981451	3154	26656											
ZNF654	55279	broad.mit.edu	37	chr3	88188839	88188839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtaccagaagatgttattGaaaatgttattgaaaatggc	15	13	10	3	0	0	4	0	2	0	2	0	4	0	4	1	1	1	3	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:88188839G>A	ENST00000309495.5	+	1	586	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	127					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGatgttattgaaaatgttat	0.363													A	88188839	G	A	88188839	3	1	364	1	0	0	0	0	1	0	0	0	18168	1291	45	2	381	2	ZNF654	3	88188839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147860	88188839	109833591	3155	26657											
EPHA6	285220	broad.mit.edu	37	chr3	97367132	97367132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttactttgcattcataggaCctcttccaaactctaacact	11	15	3	12	0	3	0	1	0	2	0	4	1	4	1	2	1	4	1	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97367132C>T	ENST00000514100.1	+	13	1397	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	EPHA6_ENST00000389672.5_Intron|EPHA6_ENST00000502694.1_Silent_p.D321D	NM_001278300.1	NP_001265229.1	Q9UF33	EPHA6_HUMAN	EPH receptor A6	0	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						ATTCATAGGACCTCTTCCAAA	0.343													T	97367132	C	T	97367132	2	4	364	1	0	0	0	0	0	0	0	1	5212	506	18	2		2	EPHA6	3	97367132	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9178293	97367132	100655298	3156	26658											
ARL6	84100	broad.mit.edu	37	chr3	97487043	97487043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctagataatagtggcaaaaCgacgatcattaacaaactta	18	9	7	7	2	1	1	1	0	0	1	1	3	1	1	0	1	3	2	0	1	8	5	rs104893680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97487043C>T	ENST00000463745.1	+	2	569	c.92C>T	c.(91-93)aCg>aTg	p.T31M	ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000394206.1_Missense_Mutation_p.T31M|ARL6_ENST00000335979.2_Missense_Mutation_p.T31M	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	31			T -> M (in BBS3; abrogates the GTP- binding ability without affecting GDP- binding/dissociating properties; increased proteasomal degradation).|T -> R (in BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation).		cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		AGTGGCAAAACGACGATCATT	0.348													T	97487043	C	T	97487043	3	4	364	1	0	0	0	0	1	0	0	0	946	536	19	1	94	1	ARL6	3	97487043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119911	97487043	100535387	3157	26659											
MINA	84864	broad.mit.edu	37	chr3	97668832	97668832	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaagccacttaatcgtcTtgtagcaacagttgtggatt	11	12	10	8	1	1	0	0	0	1	0	2	2	1	2	1	2	3	3	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97668832T>G	ENST00000333396.7	-	7	1498	c.916A>C	c.(916-918)Aga>Cga	p.R306R	MINA_ENST00000394198.2_Silent_p.R306R|MINA_ENST00000360258.4_Silent_p.R305R	NM_001042533.2|NM_032778.5	NP_001035998.1|NP_116167.3	Q8IUF8	MINA_HUMAN	MYC induced nuclear antigen						ribosome biogenesis	cytoplasm|nucleolus				breast(2)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)	13						CTTAATCGTCTTGTAGCAACA	0.502													G	97668832	T	G	97668832	2	3	364	1	0	0	0	0	0	0	0	1	9661	1617	56	5		5	MINA	3	97668832	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	181789	97668832	100353598	3158	26660											
GABRR3	200959	broad.mit.edu	37	chr3	97705802	97705802	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggccatagcttgaactgCatcaatattgtacatcctag	14	11	7	9	0	1	1	1	1	0	0	2	1	2	1	2	1	4	3	2	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97705802C>T	ENST00000472788.1	-	0	1130					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						GCTTGAACTGCATCAATATTG	0.338													T	97705802	C	T	97705802	1	4	364	0	1	0	0	0	0	0	0	0	6230	710	25	2		2	GABRR3	3	97705802	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36970	97705802	100316628	3159	26661											
OR5H1	26341	broad.mit.edu	37	chr3	97851814	97851814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttagctaagagtaagatGatatctctctctgaatgcaa	13	14	7	7	0	3	4	0	2	3	2	5	4	3	4	0	0	2	3	0	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97851814G>A	ENST00000354565.2	+	1	273	c.273G>A	c.(271-273)atG>atA	p.M91I	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGAGTAAGATGATATCTCTCT	0.393													A	97851814	G	A	97851814	3	1	364	1	0	0	0	0	1	0	0	0	11235	1290	45	2	275	2	OR5H1	3	97851814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146012	97851814	100170616	3160	26662											
OR5H14	403273	broad.mit.edu	37	chr3	97868254	97868254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggaaaatgcaacattgCtgacagagtttgttctcaca	15	10	9	7	0	1	3	1	1	1	2	2	4	1	4	0	1	3	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97868254C>A	ENST00000437310.1	+	1	85	c.25C>A	c.(25-27)Ctg>Atg	p.L9M		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TGCAACATTGCTGACAGAGTT	0.383													A	97868254	C	A	97868254	3	1	364	1	0	0	0	0	1	0	0	0	11236	796	28	4	27	4	OR5H14	3	97868254	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16440	97868254	100154176	3161	26663											
OR5H15	403274	broad.mit.edu	37	chr3	97888283	97888283	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggagcccatctcttctCtgtctgtttatactatggcc	5	16	8	12	0	3	0	0	0	3	0	5	1	3	1	2	2	2	1	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888283C>A	ENST00000356526.2	+	1	740	c.740C>A	c.(739-741)tCt>tAt	p.S247Y		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						CATCTCTTCTCTGTCTGTTTA	0.428													A	97888283	C	A	97888283	3	1	364	1	0	0	0	0	1	0	0	0	11237	913	32	4	742	4	OR5H15	3	97888283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20029	97888283	100134147	3162	26664											
OR5H15	403274	broad.mit.edu	37	chr3	97888395	97888395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacactgtcatcattcctttGttaaatcctatcatctacag	11	16	3	11	0	4	0	3	0	1	0	6	0	6	0	2	0	2	1	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:97888395G>A	ENST00000356526.2	+	1	852	c.852G>A	c.(850-852)ttG>ttA	p.L284L		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCATTCCTTTGTTAAATCCTA	0.363													A	97888395	G	A	97888395	2	1	364	1	0	0	0	0	0	0	0	1	11237	1368	48	2		2	OR5H15	3	97888395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112	97888395	100134035	3163	26665											
OR5H2	79310	broad.mit.edu	37	chr3	98001933	98001933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatccccatgtacttttttCttgggagtttagcctttgtt	6	19	7	9	0	1	0	0	0	1	0	2	1	2	1	3	1	2	3	3	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98001933C>A	ENST00000355273.2	+	1	202	c.202C>A	c.(202-204)Ctt>Att	p.L68I	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTACTTTTTTCTTGGGAGTTT	0.408													A	98001933	C	A	98001933	3	1	364	1	0	0	0	0	1	0	0	0	11238	913	32	4	204	4	OR5H2	3	98001933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113538	98001933	100020497	3164	26666											
OR5H2	79310	broad.mit.edu	37	chr3	98002546	98002546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccctgcatctccacaagCagatgaccaagatatgatag	13	7	9	12	1	1	4	0	2	1	2	2	4	1	4	3	0	2	2	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98002546C>T	ENST00000355273.2	+	1	815	c.815C>T	c.(814-816)gCa>gTa	p.A272V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A272V(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTCCACAAGCAGATGACCAA	0.378													T	98002546	C	T	98002546	3	4	364	1	0	0	0	0	1	0	0	0	11238	710	25	2	817	2	OR5H2	3	98002546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613	98002546	100019884	3165	26667											
OR5K1	26339	broad.mit.edu	37	chr3	98188702	98188702	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacaaaaggatttccctCtatgaatgtgcagtacagtt	14	11	9	7	0	1	2	0	1	1	1	2	4	2	3	1	1	3	3	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188702C>A	ENST00000332650.5	+	1	379	c.282C>A	c.(280-282)ctC>ctA	p.L94L		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGATTTCCCTCTATGAATGTG	0.433													A	98188702	C	A	98188702	2	1	364	1	0	0	0	0	0	0	0	1	11242	900	32	4		4	OR5K1	3	98188702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186156	98188702	99833728	3166	26668											
OR5K1	26339	broad.mit.edu	37	chr3	98188949	98188949	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatcgaatcacatcaaccacTtttactgtgatattcttccc	11	14	4	12	1	3	1	2	1	1	0	5	3	4	1	2	0	2	0	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98188949T>G	ENST00000332650.5	+	1	626	c.529T>G	c.(529-531)Ttt>Gtt	p.F177V		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CATCAACCACTTTTACTGTGA	0.398													G	98188949	T	G	98188949	3	3	364	1	0	0	0	0	1	0	0	0	11242	1609	56	5	531	5	OR5K1	3	98188949	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	247	98188949	99833481	3167	26669											
OR5K2	402135	broad.mit.edu	37	chr3	98217292	98217292	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattctatggatctattttTttcctatacattagaccaaa	12	19	3	7	0	2	1	0	0	2	1	3	2	3	2	2	1	1	0	2	1	7	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98217292T>G	ENST00000427338.1	+	1	845	c.768T>G	c.(766-768)ttT>ttG	p.F256L	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GATCTATTTTTTTCCTATACA	0.333													G	98217292	T	G	98217292	3	3	364	1	0	0	0	0	1	0	0	0	11243	1838	64	5	770	5	OR5K2	3	98217292	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28343	98217292	99805138	3168	26670											
GPR15	2838	broad.mit.edu	37	chr3	98251792	98251792	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctttcatttactatatcttCgacagctacatccgccgggc	8	13	6	14	3	2	0	1	0	1	0	4	1	3	0	3	1	3	1	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98251792C>T	ENST00000284311.3	+	1	1050	c.915C>T	c.(913-915)ttC>ttT	p.F305F		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	305						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		ACTATATCTTCGACAGCTACA	0.473													T	98251792	C	T	98251792	2	4	364	1	0	0	0	0	0	0	0	1	6709	883	31	1		1	GPR15	3	98251792	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34500	98251792	99770638	3169	26671											
ST3GAL6	10402	broad.mit.edu	37	chr3	98506939	98506939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggagaaggacaaccttccGacttttttatccagaatctg	11	12	9	9	1	1	2	0	0	1	2	3	5	3	3	3	2	1	0	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98506939G>A	ENST00000265261.6	+	7	559	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000394162.1_Missense_Mutation_p.R164Q|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.R164Q	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	164					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						ACAACCTTCCGACTTTTTTAT	0.383													A	98506939	G	A	98506939	3	1	364	1	0	0	0	0	1	0	0	0	15315	1058	37	1	513	1	ST3GAL6	3	98506939	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255147	98506939	99515491	3170	26672											
DCBLD2	131566	broad.mit.edu	37	chr3	98518429	98518429	+	Frame_Shift_Del	DEL	C	C	-																															actagtgggggaggttggttCcccgtagccttgaaagtgga																								rs141432727	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98518429delC	ENST00000326840.6	-	16	2477	c.2115delG	c.(2113-2115)gggfs	p.G705fs	DCBLD2_ENST00000326857.9_Frame_Shift_Del_p.G719fs	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	705					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						GAGGTTGGTTCCCCGTAGCCT	0.552													-	98518429	C	-	98518429	7	5	364	1	0	1	0	1	0	0	0	0	4315	842	30	0	216	0	DCBLD2	3	98518429	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	11490	98518429	99504001	3171	26673											
DCBLD2	131566	broad.mit.edu	37	chr3	98519468	98519468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacttctcttggactcaGgtgattaacttcgctgctgc	6	14	11	10	1	2	2	1	2	1	0	4	3	2	3	0	3	3	2	0	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98519468G>T	ENST00000326840.6	-	15	2175	c.1813C>A	c.(1813-1815)Ctg>Atg	p.L605M	DCBLD2_ENST00000326857.9_Missense_Mutation_p.L619M	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	605					cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CTTGGACTCAGGTGATTAACT	0.502													T	98519468	G	T	98519468	3	4	364	1	0	0	0	0	1	0	0	0	4315	991	35	4	522	4	DCBLD2	3	98519468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1039	98519468	99502962	3172	26674											
DCBLD2	131566	broad.mit.edu	37	chr3	98600529	98600529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcccattcacaaacagtGctgttgggataggtctgtgg	9	12	11	9	0	3	0	1	0	2	0	4	1	3	1	1	3	2	2	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:98600529G>A	ENST00000326840.6	-	2	650	c.288C>T	c.(286-288)agC>agT	p.S96S	DCBLD2_ENST00000326857.9_Silent_p.S96S|DCBLD2_ENST00000469648.1_Intron	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	96	CUB.				cell adhesion|intracellular receptor mediated signaling pathway|negative regulation of cell growth|wound healing	cell surface|integral to plasma membrane				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						CACAAACAGTGCTGTTGGGAT	0.413													A	98600529	G	A	98600529	2	1	364	1	0	0	0	0	0	0	0	1	4315	1310	46	2		2	DCBLD2	3	98600529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81061	98600529	99421901	3173	26675											
TBC1D23	55773	broad.mit.edu	37	chr3	100015051	100015051	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatccagtctgaatataGaagatatagaagaccttttc	14	12	6	9	0	1	5	0	1	1	4	4	5	3	5	3	0	0	0	3	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100015051G>T	ENST00000394144.4	+	8	815	c.808G>T	c.(808-810)Gaa>Taa	p.E270*	TBC1D23_ENST00000486274.1_3'UTR|TBC1D23_ENST00000475134.1_Nonsense_Mutation_p.E133*|TBC1D23_ENST00000344949.5_Nonsense_Mutation_p.E270*	NM_001199198.2	NP_001186127.1	Q9NUY8	TBC23_HUMAN	TBC1 domain family, member 23	270						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(10)|ovary(1)|prostate(2)|skin(2)	25						TCTGAATATAGAAGATATAGA	0.323													T	100015051	G	T	100015051	4	4	364	1	0	0	0	0	0	1	0	0	15710	943	33	4	838	4	TBC1D23	3	100015051	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1414522	100015051	98007379	3174	26676											
NIT2	56954	broad.mit.edu	37	chr3	100057992	100057992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagataacgtcactcgCgcttgtagcttcatccggga	11	10	9	11	4	3	1	3	0	0	1	5	2	4	2	1	1	2	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100057992C>T	ENST00000394140.4	+	2	160	c.69C>T	c.(67-69)cgC>cgT	p.R23R		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						ACGTCACTCGCGCTTGTAGCT	0.483													T	100057992	C	T	100057992	2	4	364	1	0	0	0	0	0	0	0	1	10510	755	27	1		1	NIT2	3	100057992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42941	100057992	97964438	3175	26677											
NIT2	56954	broad.mit.edu	37	chr3	100058021	100058021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcatccgggaggcagcaaCgcaaggagccaaaatagttt	13	7	11	10	2	1	0	1	0	0	0	2	2	2	2	2	3	3	4	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058021C>T	ENST00000394140.4	+	2	189	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						GAGGCAGCAACGCAAGGAGCC	0.502													T	100058021	C	T	100058021	3	4	364	1	0	0	0	0	1	0	0	0	10510	536	19	1	104	1	NIT2	3	100058021	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29	100058021	97964409	3176	26678											
NIT2	56954	broad.mit.edu	37	chr3	100058042	100058042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggagccaaaatagtttCtttgccggtcagtatgggag	11	10	13	7	1	2	0	1	0	1	0	2	2	2	2	2	3	2	3	2	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100058042C>A	ENST00000394140.4	+	2	210	c.119C>A	c.(118-120)tCt>tAt	p.S40Y		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						AAAATAGTTTCTTTGCCGGTC	0.512													A	100058042	C	A	100058042	3	1	364	1	0	0	0	0	1	0	0	0	10510	913	32	4	125	4	NIT2	3	100058042	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	100058042	97964388	3177	26679											
GPR128	84873	broad.mit.edu	37	chr3	100365443	100365443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaatttcaactctattccTatgcctgtgtctattggaat	11	16	6	8	0	3	1	1	0	2	1	4	2	4	2	2	1	2	0	2	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365443T>C	ENST00000273352.3	+	10	1409	c.1141T>C	c.(1141-1143)Tat>Cat	p.Y381H	GPR128_ENST00000475887.1_Missense_Mutation_p.Y86H	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	381	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ACTCTATTCCTATGCCTGTGT	0.378													C	100365443	T	C	100365443	3	2	364	1	0	0	0	0	1	0	0	0	6695	1522	53	3	1179	3	GPR128	3	100365443	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	307401	100365443	97656987	3178	26680											
GPR128	84873	broad.mit.edu	37	chr3	100365530	100365530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgatggattcctgcgcTgccgctgcaaccatactact	8	10	9	14	2	0	1	0	1	0	0	1	2	1	2	3	1	6	4	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100365530T>C	ENST00000273352.3	+	10	1496	c.1228T>C	c.(1228-1230)Tgc>Cgc	p.C410R	GPR128_ENST00000475887.1_Missense_Mutation_p.C115R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	410	GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTCCTGCGCTGCCGCTGCAA	0.408													C	100365530	T	C	100365530	3	2	364	1	0	0	0	0	1	0	0	0	6695	1580	55	3	1266	3	GPR128	3	100365530	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87	100365530	97656900	3179	26681											
GPR128	84873	broad.mit.edu	37	chr3	100368606	100368606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgttggatgtgcactgtCtgttactggtctggctctca	6	14	11	10	1	3	0	1	0	3	0	4	1	3	1	0	3	3	4	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100368606C>A	ENST00000273352.3	+	11	1602	c.1334C>A	c.(1333-1335)tCt>tAt	p.S445Y	GPR128_ENST00000475887.1_Missense_Mutation_p.S150Y	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	445					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						TGTGCACTGTCTGTTACTGGT	0.348													A	100368606	C	A	100368606	3	1	364	1	0	0	0	0	1	0	0	0	6695	913	32	4	1376	4	GPR128	3	100368606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3076	100368606	97653824	3180	26682											
TFG	10342	broad.mit.edu	37	chr3	100447624	100447624	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgagaactgatagaacttCgaaataaagtgaatcgttta	16	11	9	5	3	0	4	0	2	0	2	3	6	0	4	0	0	2	1	0	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100447624C>T	ENST00000240851.4	+	4	677	c.337C>T	c.(337-339)Cga>Tga	p.R113*	TFG_ENST00000490574.1_Nonsense_Mutation_p.R113*|TFG_ENST00000418917.2_Nonsense_Mutation_p.R113*|TFG_ENST00000476228.1_Nonsense_Mutation_p.R113*	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	113					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						GATAGAACTTCGAAATAAAGT	0.378			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								T	100447624	C	T	100447624	4	4	364	1	0	0	0	0	0	1	0	0	15906	876	31	1	347	1	TFG	3	100447624	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79018	100447624	97574806	3181	26683											
TFG	10342	broad.mit.edu	37	chr3	100455466	100455466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttcaggaacacccgacagCattgcttcctcctcctcagc	8	9	7	17	2	2	0	2	0	0	0	5	2	5	1	4	1	4	3	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100455466C>T	ENST00000240851.4	+	6	967	c.627C>T	c.(625-627)agC>agT	p.S209S	TFG_ENST00000490574.1_Silent_p.S209S|TFG_ENST00000418917.2_Silent_p.S209S|TFG_ENST00000476228.1_Silent_p.S209S	NM_001195478.1|NM_001195479.1|NM_006070.5	NP_001182407.1|NP_001182408.1|NP_006061.2	Q92734	TFG_HUMAN	TRK-fused gene	209					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm	signal transducer activity		TFG/NR4A3(2)|TFG/NTRK1_ENST00000392302(5)|TFG/ALK(9)	large_intestine(4)|lung(2)|prostate(1)|stomach(1)	8						CACCCGACAGCATTGCTTCCT	0.527			T	"NTRK1, ALK"	"papillary thyroid, ALCL, NSCLC"								T	100455466	C	T	100455466	2	4	364	1	0	0	0	0	0	0	0	1	15906	709	25	2		2	TFG	3	100455466	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7842	100455466	97566964	3182	26684											
ABI3BP	25890	broad.mit.edu	37	chr3	100489739	100489739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggggaaccgtttgacaGagtcagtaatggagcaggga	11	9	15	6	1	1	2	1	1	0	1	1	5	1	5	1	4	2	3	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489739G>A	ENST00000471714.1	-	61	4671	c.4562C>T	c.(4561-4563)tCt>tTt	p.S1521F	ABI3BP_ENST00000284322.5_Missense_Mutation_p.S819F|ABI3BP_ENST00000383691.4_Missense_Mutation_p.S773F			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	819						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CCGTTTGACAGAGTCAGTAAT	0.532													A	100489739	G	A	100489739	3	1	364	1	0	0	0	0	1	0	0	0	91	942	33	2	799	2	ABI3BP	3	100489739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34273	100489739	97532691	3183	26685											
ABI3BP	25890	broad.mit.edu	37	chr3	100489769	100489769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagcagggactgttgtcaGgcttttggatgtatcgcaca	8	12	14	7	1	1	0	1	0	0	0	2	3	1	3	0	4	1	5	0	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100489769G>T	ENST00000471714.1	-	61	4641	c.4532C>A	c.(4531-4533)cCt>cAt	p.P1511H	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P809H|ABI3BP_ENST00000383691.4_Missense_Mutation_p.P763H			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	809						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						ACTGTTGTCAGGCTTTTGGAT	0.488													T	100489769	G	T	100489769	3	4	364	1	0	0	0	0	1	0	0	0	91	1000	35	4	829	4	ABI3BP	3	100489769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	100489769	97532661	3184	26686											
ABI3BP	25890	broad.mit.edu	37	chr3	100617649	100617649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caatgtccagtcatggtgtgGgttgatgaggaaaccccagg	10	9	14	8	0	1	2	1	2	0	0	2	3	2	3	3	4	1	1	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:100617649G>A	ENST00000471714.1	-	4	548	c.439C>T	c.(439-441)Cca>Tca	p.P147S	ABI3BP_ENST00000284322.5_Missense_Mutation_p.P147S|ABI3BP_ENST00000495063.1_Missense_Mutation_p.P147S			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	147	Fibronectin type-III 1.					extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TCATGGTGTGGGTTGATGAGG	0.473													A	100617649	G	A	100617649	3	1	364	1	0	0	0	0	1	0	0	0	91	1232	43	2	2916	2	ABI3BP	3	100617649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127880	100617649	97404781	3185	26687											
ZBTB11	27107	broad.mit.edu	37	chr3	101370464	101370464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatgtgttctgacatggCgttttagagatcgggcatca	9	13	12	7	2	2	2	1	1	1	1	3	3	2	2	0	2	0	4	0	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101370464C>T	ENST00000312938.4	-	11	3288	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	903					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R903H(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTGACATGGCGTTTTAGAGA	0.423													T	101370464	C	T	101370464	3	4	364	1	0	0	0	0	1	0	0	0	17625	768	27	1	457	1	ZBTB11	3	101370464	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	752815	101370464	96651966	3186	26688											
ZBTB11	27107	broad.mit.edu	37	chr3	101378786	101378786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattagacgtggaattggaCgaggatgaagagggtgcatc	12	9	15	5	2	1	3	1	1	0	2	2	7	1	6	0	4	1	1	0	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101378786C>T	ENST00000312938.4	-	6	2467	c.1887G>A	c.(1885-1887)tcG>tcA	p.S629S		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	629					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGGAATTGGACGAGGATGAAG	0.398													T	101378786	C	T	101378786	2	4	364	1	0	0	0	0	0	0	0	1	17625	523	19	1		1	ZBTB11	3	101378786	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8322	101378786	96643644	3187	26689											
ZBTB11	27107	broad.mit.edu	37	chr3	101383381	101383381	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagctttccaaatacttaCtggacatttgtaatctctag	12	16	5	8	0	1	0	0	0	1	0	3	1	2	1	1	1	3	2	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383381C>A	ENST00000312938.4	-	5	2381		c.e5+1			NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						CAAATACTTACTGGACATTTG	0.333													A	101383381	C	A	101383381	5	1	364	1	0	0	0	0	0	0	1	0	17625	579	20	4	1388	4	ZBTB11	3	101383381	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4595	101383381	96639049	3188	26690											
ZBTB11	27107	broad.mit.edu	37	chr3	101383909	101383909	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcattaacagaacgttgtcGaagcctgcttctataagtat	12	14	7	8	2	2	1	1	0	1	1	3	2	2	1	1	0	4	3	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101383909G>A	ENST00000312938.4	-	4	2102	c.1522C>T	c.(1522-1524)Cga>Tga	p.R508*		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						GAACGTTGTCGAAGCCTGCTT	0.428													A	101383909	G	A	101383909	4	1	364	1	0	0	0	0	0	1	0	0	17625	1066	37	1	1671	1	ZBTB11	3	101383909	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	528	101383909	96638521	3189	26691											
CEP97	79598	broad.mit.edu	37	chr3	101445527	101445527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacactttgattctggatAaaaatcagattattaaattg	15	16	5	5	0	3	2	2	1	1	1	3	3	3	3	0	1	0	0	0	1	6	7	rs145823858		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101445527A>G	ENST00000341893.3	+	2	885	c.133A>G	c.(133-135)Aaa>Gaa	p.K45E	CEP97_ENST00000327230.4_Missense_Mutation_p.K45E|CEP97_ENST00000494050.1_Missense_Mutation_p.K45E			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	45						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GATTCTGGATAAAAATCAGAT	0.343													G	101445527	A	G	101445527	3	3	364	1	0	0	0	0	1	0	0	0	3293	363	13	3	139	3	CEP97	3	101445527	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	61618	101445527	96576903	3190	26692											
CEP97	79598	broad.mit.edu	37	chr3	101474341	101474341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggccagcacatccagCttgtccaatatctggctaca	9	9	9	14	0	1	0	0	0	1	0	3	0	3	0	4	3	3	3	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101474341C>T	ENST00000341893.3	+	7	1548	c.796C>T	c.(796-798)Ctt>Ttt	p.L266F	CEP97_ENST00000327230.4_Missense_Mutation_p.L266F|CEP97_ENST00000494050.1_Missense_Mutation_p.L266F			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	266						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GCACATCCAGCTTGTCCAATA	0.473													T	101474341	C	T	101474341	3	4	364	1	0	0	0	0	1	0	0	0	3293	797	28	2	822	2	CEP97	3	101474341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28814	101474341	96548089	3191	26693											
NFKBIZ	64332	broad.mit.edu	37	chr3	101571607	101571607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgaacatagaacagtTcagaggtaagagttacttgt	14	11	12	4	0	1	4	1	1	0	3	1	4	1	4	0	2	3	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101571607T>C	ENST00000326172.5	+	3	570	c.455T>C	c.(454-456)tTc>tCc	p.F152S	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.F152S|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.F52S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						ATAGAACAGTTCAGAGGTAAG	0.289													C	101571607	T	C	101571607	3	2	364	1	0	0	0	0	1	0	0	0	10459	1783	62	3	465	3	NFKBIZ	3	101571607	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	97266	101571607	96450823	3192	26694											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572669	101572669	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaaattggcaaatatttcCcaagaccagtttctttcaaa	15	12	5	9	0	2	1	1	0	1	1	3	1	3	1	2	1	1	3	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:101572669C>T	ENST00000326172.5	+	5	1414	c.1299C>T	c.(1297-1299)tcC>tcT	p.S433S	NFKBIZ_ENST00000326151.5_Silent_p.S311S|NFKBIZ_ENST00000394054.2_Silent_p.S333S	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	433	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						CAAATATTTCCCAAGACCAGT	0.408													T	101572669	C	T	101572669	2	4	364	1	0	0	0	0	0	0	0	1	10459	610	22	2		2	NFKBIZ	3	101572669	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1062	101572669	96449761	3193	26695											
ALCAM	214	broad.mit.edu	37	chr3	105253607	105253607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaggctgacatacaaatGccattcacctgctcggtgac	12	8	8	13	1	1	2	1	2	0	0	2	2	1	2	3	2	3	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105253607G>A	ENST00000306107.5	+	6	1148	c.648G>A	c.(646-648)atG>atA	p.M216I	ALCAM_ENST00000486979.2_Missense_Mutation_p.M165I|ALCAM_ENST00000389927.4_Missense_Mutation_p.M25I|ALCAM_ENST00000472644.2_Missense_Mutation_p.M216I|ALCAM_ENST00000481337.1_3'UTR	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	216	Ig-like V-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						ACATACAAATGCCATTCACCT	0.398													A	105253607	G	A	105253607	3	1	364	1	0	0	0	0	1	0	0	0	487	1319	46	2	670	2	ALCAM	3	105253607	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3680938	105253607	92768823	3194	26696											
ALCAM	214	broad.mit.edu	37	chr3	105264032	105264032	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgactatcttacatttcaGagttagcactttgaacagat	12	16	6	7	0	2	4	1	2	1	2	2	4	2	4	0	0	3	2	0	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105264032G>A	ENST00000481337.1	+	10	1120		c.e10-1		ALCAM_ENST00000486979.2_Intron|ALCAM_ENST00000389927.4_Intron|ALCAM_ENST00000472644.2_Intron|ALCAM_ENST00000306107.5_Intron			Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule						cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TTACATTTCAGAGTTAGCACT	0.343													A	105264032	G	A	105264032	5	1	364	1	0	0	0	0	0	0	1	0	487	957	33	2		2	ALCAM	3	105264032	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10425	105264032	92758398	3195	26697											
CBLB	868	broad.mit.edu	37	chr3	105389183	105389183	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacttggccacttgctagAtcaacaaagggatcttaaaa	15	9	9	8	0	2	1	1	0	1	1	2	3	2	3	1	3	3	1	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:105389183A>G	ENST00000264122.4	-	18	2904	c.2583T>C	c.(2581-2583)gaT>gaC	p.D861D	CBLB_ENST00000394027.3_Silent_p.D839D|CBLB_ENST00000407712.1_Silent_p.D76D	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	861	Pro-rich.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CACTTGCTAGATCAACAAAGG	0.343			Mis S		AML								G	105389183	A	G	105389183	2	3	364	1	0	0	0	0	0	0	0	1	2727	330	12	3		3	CBLB	3	105389183	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	125151	105389183	92633247	3196	26698											
CCDC54	84692	broad.mit.edu	37	chr3	107096457	107096457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacacacttcacaccaaaaGggtaaaagctgctgctaggc	14	7	9	11	0	1	0	1	0	0	0	1	0	1	0	1	2	4	5	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:107096457G>T	ENST00000261058.1	+	1	270	c.23G>T	c.(22-24)aGg>aTg	p.R8M		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	8										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						CACACCAAAAGGGTAAAAGCT	0.398													T	107096457	G	T	107096457	3	4	364	1	0	0	0	0	1	0	0	0	2852	1000	35	4	25	4	CCDC54	3	107096457	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1707274	107096457	90925973	3197	26699											
HHLA2	11148	broad.mit.edu	37	chr3	108074138	108074138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctattaacagcccaCtgaatattacaggatcaaat	14	14	4	9	0	2	1	1	1	1	0	2	2	2	2	1	1	3	0	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108074138C>G	ENST00000357759.5	+	5	1009	c.595C>G	c.(595-597)Ctg>Gtg	p.L199V	HHLA2_ENST00000467562.1_Missense_Mutation_p.L135V|HHLA2_ENST00000489514.2_Missense_Mutation_p.L199V|HHLA2_ENST00000467761.1_Missense_Mutation_p.L199V|HHLA2_ENST00000491820.1_Missense_Mutation_p.L199V	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	199	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TAACAGCCCACTGAATATTAC	0.403													G	108074138	C	G	108074138	3	3	364	1	0	0	0	0	1	0	0	0	7150	564	20	4	605	4	HHLA2	3	108074138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	977681	108074138	89948292	3198	26700											
MYH15	22989	broad.mit.edu	37	chr3	108181966	108181966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgactcaccactgtcaGtactcatgtaattttcaaaa	13	14	5	9	0	4	1	4	1	0	0	4	1	4	1	1	0	1	3	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108181966G>T	ENST00000273353.3	-	17	1972	c.1916C>A	c.(1915-1917)aCt>aAt	p.T639N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	639	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						ACCACTGTCAGTACTCATGTA	0.418													T	108181966	G	T	108181966	3	4	364	1	0	0	0	0	1	0	0	0	10110	1029	36	4	4028	4	MYH15	3	108181966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107828	108181966	89840464	3199	26701											
DZIP3	9666	broad.mit.edu	37	chr3	108363603	108363603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaccagaaatcatacaGaggatgttatcctgctatca	14	10	7	10	0	2	2	2	0	0	2	3	3	3	3	3	1	3	3	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108363603G>T	ENST00000361582.3	+	14	1964	c.1734G>T	c.(1732-1734)caG>caT	p.Q578H	DZIP3_ENST00000463306.1_Missense_Mutation_p.Q578H	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	578					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						AAATCATACAGAGGATGTTAT	0.398													T	108363603	G	T	108363603	3	4	364	1	0	0	0	0	1	0	0	0	4904	933	33	4	1784	4	DZIP3	3	108363603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181637	108363603	89658827	3200	26702											
DZIP3	9666	broad.mit.edu	37	chr3	108366851	108366851	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccacctctcatggagtaCaatataaatgtgaaatcaca	16	10	6	9	0	2	1	2	1	1	0	4	2	3	2	2	1	1	1	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:108366851C>T	ENST00000361582.3	+	16	2084	c.1854C>T	c.(1852-1854)taC>taT	p.Y618Y	DZIP3_ENST00000463306.1_Silent_p.Y618Y	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	618					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TCATGGAGTACAATATAAATG	0.333													T	108366851	C	T	108366851	2	4	364	1	0	0	0	0	0	0	0	1	4904	489	17	2		2	DZIP3	3	108366851	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3248	108366851	89655579	3201	26703											
DPPA2	151871	broad.mit.edu	37	chr3	109027001	109027001	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggctcccggtgctgaaGttatcacttcaactgtattg	9	13	9	10	1	2	1	2	1	0	0	3	1	3	1	1	2	2	4	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:109027001G>T	ENST00000478945.1	-	6	782	c.536C>A	c.(535-537)aCt>aAt	p.T179N		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	179						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGTGCTGAAGTTATCACTTC	0.463													T	109027001	G	T	109027001	3	4	364	1	0	0	0	0	1	0	0	0	4773	1029	36	4	372	4	DPPA2	3	109027001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	660150	109027001	88995429	3202	26704											
PHLDB2	90102	broad.mit.edu	37	chr3	111632216	111632216	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgctgaatacacaaaGcctgacagtcgcttatctac	11	11	7	12	1	2	2	0	2	2	0	3	2	2	2	1	0	4	2	1	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111632216G>A	ENST00000431670.2	+	3	1797	c.1386G>A	c.(1384-1386)aaG>aaA	p.K462K	PHLDB2_ENST00000393925.3_Silent_p.K462K|PHLDB2_ENST00000481953.1_Silent_p.K462K|PHLDB2_ENST00000495180.1_Silent_p.K48K|PHLDB2_ENST00000393923.3_Silent_p.K489K|PHLDB2_ENST00000412622.1_Silent_p.K462K|PHLDB2_ENST00000477695.1_Silent_p.K462K	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	462						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						AATACACAAAGCCTGACAGTC	0.512													A	111632216	G	A	111632216	2	1	364	1	0	0	0	0	0	0	0	1	11929	962	34	2		2	PHLDB2	3	111632216	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2605215	111632216	86390214	3203	26705											
ABHD10	55347	broad.mit.edu	37	chr3	111697940	111697940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcgcttggcagctgtggcggCctgggtaccttgtcggagct	3	10	17	11	3	0	0	0	0	0	0	1	1	0	1	2	5	3	5	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111697940C>T	ENST00000273359.3	+	1	59	c.32C>T	c.(31-33)gCc>gTc	p.A11V	ABHD10_ENST00000534857.1_5'UTR|ABHD10_ENST00000494817.1_Missense_Mutation_p.A11V	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	11						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						GCTGTGGCGGCCTGGGTACCT	0.687													T	111697940	C	T	111697940	3	4	364	1	0	0	0	0	1	0	0	0	74	739	26	2	34	2	ABHD10	3	111697940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65724	111697940	86324490	3204	26706											
TAGLN3	29114	broad.mit.edu	37	chr3	111732374	111732374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcgggcatgacagggtaCgggatgcccaggcagatcat	10	5	16	10	2	1	2	1	1	0	1	1	3	1	3	1	5	2	3	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111732374C>T	ENST00000393917.2	+	5	1128	c.576C>T	c.(574-576)taC>taT	p.Y192Y	TAGLN3_ENST00000273368.4_Silent_p.Y192Y|TAGLN3_ENST00000478951.1_Silent_p.Y192Y|TAGLN3_ENST00000486460.1_Silent_p.Y108Y|TAGLN3_ENST00000455401.2_Silent_p.Y192Y	NM_013259.2	NP_037391.2	Q9UI15	TAGL3_HUMAN	transgelin 3	192					central nervous system development|muscle organ development					endometrium(2)|lung(5)|urinary_tract(1)	8						TGACAGGGTACGGGATGCCCA	0.567											OREG0015708	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	111732374	C	T	111732374	2	4	364	1	0	0	0	0	0	0	0	1	15637	547	19	1		1	TAGLN3	3	111732374	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34434	111732374	86290056	3205	26707											
TMPRSS7	344805	broad.mit.edu	37	chr3	111766665	111766665	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttctgcagcctcagggagGctgatgtgtcacttcaagct	8	12	11	10	0	4	1	3	1	1	0	4	2	4	2	1	2	3	3	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111766665G>A	ENST00000452346.2	+	7	813	c.810G>A	c.(808-810)agG>agA	p.R270R	TMPRSS7_ENST00000419127.1_Silent_p.R144R			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	270	CUB 1.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCTCAGGGAGGCTGATGTGTC	0.517													A	111766665	G	A	111766665	2	1	364	1	0	0	0	0	0	0	0	1	16352	1194	42	2		2	TMPRSS7	3	111766665	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34291	111766665	86255765	3206	26708											
TMPRSS7	344805	broad.mit.edu	37	chr3	111782478	111782478	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagtgatgaactgttttgCggtgggtattcaagatttta	11	15	12	3	1	1	3	1	2	0	1	1	4	1	3	0	2	2	2	0	2	5	6	rs150107555	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:111782478C>T	ENST00000452346.2	+	12	1557	c.1554C>T	c.(1552-1554)tgC>tgT	p.C518C	TMPRSS7_ENST00000419127.1_Splice_Site_p.C392C			Q7RTY8	TMPS7_HUMAN	transmembrane protease, serine 7	518	LDL-receptor class A 1.|LDL-receptor class A 2.				proteolysis	integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(2)|endometrium(6)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AACTGTTTTGCGGTGGGTATT	0.378													T	111782478	C	T	111782478	5	4	364	1	0	0	0	0	0	0	1	0	16352	782	27	1	1210	1	TMPRSS7	3	111782478	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15813	111782478	86239952	3207	26709											
BTLA	151888	broad.mit.edu	37	chr3	112198487	112198487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacatgttgttccattgagcTtgcaccaagtcacatgaggc	10	11	9	11	0	1	2	1	2	0	0	2	2	2	2	2	1	2	4	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112198487T>C	ENST00000334529.5	-	2	420	c.218A>G	c.(217-219)aAg>aGg	p.K73R	BTLA_ENST00000383680.4_Missense_Mutation_p.K73R	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	73	Ig-like V-type.				T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCCATTGAGCTTGCACCAAGT	0.388													C	112198487	T	C	112198487	3	2	364	1	0	0	0	0	1	0	0	0	1568	1609	56	3	667	3	BTLA	3	112198487	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	416009	112198487	85823943	3208	26710											
CCDC80	151887	broad.mit.edu	37	chr3	112337934	112337934	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcatcatccaccactcGcatgggcttctcattatctt	7	15	5	14	1	5	0	3	0	3	0	8	0	6	0	2	1	0	2	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112337934G>A	ENST00000206423.3	-	4	3006	c.2053C>T	c.(2053-2055)Cga>Tga	p.R685*	CCDC80_ENST00000439685.2_Nonsense_Mutation_p.R685*	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	685										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						TCCACCACTCGCATGGGCTTC	0.463													A	112337934	G	A	112337934	4	1	364	1	0	0	0	0	0	1	0	0	2882	1095	38	1	819	1	CCDC80	3	112337934	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139447	112337934	85684496	3209	26711											
CCDC80	151887	broad.mit.edu	37	chr3	112357981	112357981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttggtcgatgacctcgtAcatggcttccagcctaacgg	7	10	11	13	3	0	1	0	1	0	0	3	2	1	1	4	3	3	2	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112357981A>G	ENST00000206423.3	-	2	1725	c.772T>C	c.(772-774)Tac>Cac	p.Y258H	CCDC80_ENST00000439685.2_Missense_Mutation_p.Y258H	NM_199511.1|NM_199512.1	NP_955805.1|NP_955806.1	Q76M96	CCD80_HUMAN	coiled-coil domain containing 80	258										breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(21)|ovary(3)|pancreas(2)|prostate(4)	51						ATGACCTCGTACATGGCTTCC	0.557													G	112357981	A	G	112357981	3	3	364	1	0	0	0	0	1	0	0	0	2882	391	14	3	2108	3	CCDC80	3	112357981	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20047	112357981	85664449	3210	26712											
C3orf17	25871	broad.mit.edu	37	chr3	112732162	112732162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaagcggagcaacaactTgcaggctcccaaaaccttca	15	5	7	14	1	1	0	1	0	0	0	2	1	2	1	2	2	7	3	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:112732162T>C	ENST00000314400.5	-	4	621	c.430A>G	c.(430-432)Aag>Gag	p.K144E	C3orf17_ENST00000383675.2_Intron|C3orf17_ENST00000393857.2_Missense_Mutation_p.K8E	NM_015412.3	NP_056227.2	Q6NW34	CC017_HUMAN	chromosome 3 open reading frame 17	144						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(2)|lung(6)|prostate(2)|skin(1)	13						AGCAACAACTTGCAGGCTCCC	0.398													C	112732162	T	C	112732162	3	2	364	1	0	0	0	0	1	0	0	0	2231	1821	63	3	1297	3	C3orf17	3	112732162	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	374181	112732162	85290268	3211	26713											
BOC	91653	broad.mit.edu	37	chr3	113002407	113002407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatctgattgtcggggtcGtcctgggctccatcgttctc	3	14	11	13	3	2	1	0	1	2	0	8	1	4	1	3	3	0	2	3	3	1	3	rs148702312	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113002407G>A	ENST00000495514.1	+	16	3285	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_ENST00000355385.3_Missense_Mutation_p.V861I|BOC_ENST00000273395.4_Missense_Mutation_p.V862I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	861					cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding	p.V861I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612													A	113002407	G	A	113002407	3	1	364	1	0	0	0	0	1	0	0	0	1487	1145	40	1	2635	1	BOC	3	113002407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270245	113002407	85020023	3212	26714											
KIAA2018	205717	broad.mit.edu	37	chr3	113377544	113377544	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccctttaagagacctgtGgtttgcattgtatctgatga	8	15	10	8	0	1	3	0	2	1	1	1	4	1	3	3	1	2	3	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113377544G>T	ENST00000316407.4	-	7	3395	c.2985C>A	c.(2983-2985)acC>acA	p.T995T	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.T995T	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	995					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AGAGACCTGTGGTTTGCATTG	0.388													T	113377544	G	T	113377544	2	4	364	1	0	0	0	0	0	0	0	1	8326	1335	47	4		4	KIAA2018	3	113377544	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	375137	113377544	84644886	3213	26715											
KIAA2018	205717	broad.mit.edu	37	chr3	113378522	113378522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggctgcaaagcaaagagCtgtccatttaaagaaatggt	16	8	10	7	0	0	2	0	0	0	2	1	2	1	2	1	2	3	4	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113378522C>A	ENST00000316407.4	-	7	2417	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Missense_Mutation_p.Q669H	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	669					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						AAGCAAAGAGCTGTCCATTTA	0.398													A	113378522	C	A	113378522	3	1	364	1	0	0	0	0	1	0	0	0	8326	796	28	4	4734	4	KIAA2018	3	113378522	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	978	113378522	84643908	3214	26716											
KIAA2018	205717	broad.mit.edu	37	chr3	113379797	113379797	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaagcacatttgattcGctttcagaggtgggaagctc	10	10	11	10	1	1	2	1	1	0	1	3	3	1	3	1	2	2	4	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113379797G>A	ENST00000316407.4	-	7	1142	c.732C>T	c.(730-732)agC>agT	p.S244S	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000478658.1_Silent_p.S244S	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	244					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						CATTTGATTCGCTTTCAGAGG	0.473													A	113379797	G	A	113379797	2	1	364	1	0	0	0	0	0	0	0	1	8326	1078	38	1		1	KIAA2018	3	113379797	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1275	113379797	84642633	3215	26717											
ATP6V1A	523	broad.mit.edu	37	chr3	113517137	113517137	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacgtaagcatttcccCtctgtcaattggctcatcag	9	12	7	13	1	5	0	4	0	1	0	6	0	6	0	2	1	2	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113517137C>A	ENST00000273398.3	+	12	1446	c.1338C>A	c.(1336-1338)ccC>ccA	p.P446P	ATP6V1A_ENST00000538620.1_Silent_p.P413P	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	446					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCATTTCCCCTCTGTCAATT	0.393													A	113517137	C	A	113517137	2	1	364	1	0	0	0	0	0	0	0	1	1182	668	24	4		4	ATP6V1A	3	113517137	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137340	113517137	84505293	3216	26718											
GRAMD1C	54762	broad.mit.edu	37	chr3	113652376	113652376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacactgtataaagaaagtCgggaagcacgattttatttg	15	11	10	5	2	0	2	0	0	0	2	1	4	0	3	0	1	1	2	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113652376C>T	ENST00000358160.4	+	12	1720	c.1228C>T	c.(1228-1230)Cgg>Tgg	p.R410W	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Missense_Mutation_p.R205W|GRAMD1C_ENST00000452134.2_Missense_Mutation_p.R139W|GRAMD1C_ENST00000472026.1_Missense_Mutation_p.R243W	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	410						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TAAAGAAAGTCGGGAAGCACG	0.338													T	113652376	C	T	113652376	3	4	364	1	0	0	0	0	1	0	0	0	6804	875	31	1	1274	1	GRAMD1C	3	113652376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135239	113652376	84370054	3217	26719											
GRAMD1C	54762	broad.mit.edu	37	chr3	113655184	113655184	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaaaacttactggcctaCgaaggagaaggcgaaccttc	13	7	11	10	2	0	1	0	0	0	1	1	5	0	2	2	4	4	0	2	4	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113655184C>T	ENST00000358160.4	+	14	2020	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000440446.2_Nonsense_Mutation_p.R305*|GRAMD1C_ENST00000452134.2_Nonsense_Mutation_p.R239*|GRAMD1C_ENST00000472026.1_Nonsense_Mutation_p.R343*	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	510						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						TACTGGCCTACGAAGGAGAAG	0.393													T	113655184	C	T	113655184	4	4	364	1	0	0	0	0	0	1	0	0	6804	528	19	1	1582	1	GRAMD1C	3	113655184	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2808	113655184	84367246	3218	26720											
ZDHHC23	254887	broad.mit.edu	37	chr3	113673059	113673059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagaccaaagggttccCtggggcagacatgtcgggca	11	5	16	9	1	0	3	0	0	0	3	2	4	1	3	2	5	0	3	2	5	2	1	rs147787442		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113673059C>A	ENST00000330212.3	+	3	973	c.674C>A	c.(673-675)cCt>cAt	p.P225H	ZDHHC23_ENST00000498275.1_Missense_Mutation_p.P219H	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	225						integral to membrane	acyltransferase activity|zinc ion binding	p.P225L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						AAAGGGTTCCCTGGGGCAGAC	0.572													A	113673059	C	A	113673059	3	1	364	1	0	0	0	0	1	0	0	0	17715	681	24	4	680	4	ZDHHC23	3	113673059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17875	113673059	84349371	3219	26721											
KIAA1407	57577	broad.mit.edu	37	chr3	113684177	113684177	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaattttacaaacttcttcCatgtccgaagggtgatccag	12	13	7	9	1	1	1	0	1	1	0	4	2	4	1	3	1	2	0	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113684177C>T	ENST00000295878.3	-	17	2782	c.2636G>A	c.(2635-2637)tGg>tAg	p.W879*		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	879										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						AAACTTCTTCCATGTCCGAAG	0.373													T	113684177	C	T	113684177	4	4	364	1	0	0	0	0	0	1	0	0	8287	595	21	2	178	2	KIAA1407	3	113684177	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11118	113684177	84338253	3220	26722											
KIAA1407	57577	broad.mit.edu	37	chr3	113697048	113697048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctgtcactgtgctccGctgcaatctcatgcttgccc	5	12	7	17	1	3	0	3	0	1	0	5	0	4	0	3	0	4	4	3	0	1	1	rs145062166	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113697048G>A	ENST00000295878.3	-	16	2737	c.2591C>T	c.(2590-2592)gCg>gTg	p.A864V		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	864										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACTGTGCTCCGCTGCAATCTC	0.423													A	113697048	G	A	113697048	3	1	364	1	0	0	0	0	1	0	0	0	8287	1087	38	1	227	1	KIAA1407	3	113697048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12871	113697048	84325382	3221	26723											
DRD3	1814	broad.mit.edu	37	chr3	113866319	113866319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaggccagtacccagaCggccgtgatcatgagggcca	12	4	13	12	2	1	3	1	2	0	1	1	3	1	3	4	3	2	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113866319C>T	ENST00000383673.2	-	4	899	c.469G>A	c.(469-471)Gtc>Atc	p.V157I	DRD3_ENST00000467632.1_Missense_Mutation_p.V157I|DRD3_ENST00000295881.7_Missense_Mutation_p.V157I|DRD3_ENST00000460779.1_Missense_Mutation_p.V157I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	157					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	AGTACCCAGACGGCCGTGATC	0.542													T	113866319	C	T	113866319	3	4	364	1	0	0	0	0	1	0	0	0	4797	536	19	1	749	1	DRD3	3	113866319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169271	113866319	84156111	3222	26724											
DRD3	1814	broad.mit.edu	37	chr3	113890729	113890729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatggccaggatgagcgcGcagtaggagagggcatagta	12	5	17	7	3	0	2	0	1	0	1	0	5	0	3	1	4	1	4	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:113890729G>A	ENST00000383673.2	-	2	541	c.111C>T	c.(109-111)tgC>tgT	p.C37C	DRD3_ENST00000467632.1_Silent_p.C37C|DRD3_ENST00000295881.7_Silent_p.C37C|DRD3_ENST00000460779.1_Silent_p.C37C	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	37					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GGATGAGCGCGCAGTAGGAGA	0.612													A	113890729	G	A	113890729	2	1	364	1	0	0	0	0	0	0	0	1	4797	1079	38	1		1	DRD3	3	113890729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24410	113890729	84131701	3223	26725											
ZBTB20	26137	broad.mit.edu	37	chr3	114070389	114070389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgttttgatctgcaggAtgctggcggccgtgaggatc	6	12	15	8	2	1	3	0	3	1	0	2	5	1	5	1	4	2	3	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:114070389A>G	ENST00000462705.1	-	11	1138	c.317T>C	c.(316-318)aTc>aCc	p.I106T	ZBTB20_ENST00000357258.3_Missense_Mutation_p.I106T|ZBTB20_ENST00000393785.2_Missense_Mutation_p.I106T|ZBTB20_ENST00000464560.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000471418.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000481632.1_Missense_Mutation_p.I106T|ZBTB20_ENST00000474710.1_Missense_Mutation_p.I179T	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	179	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GATCTGCAGGATGCTGGCGGC	0.597													G	114070389	A	G	114070389	3	3	364	1	0	0	0	0	1	0	0	0	17630	333	12	3	1697	3	ZBTB20	3	114070389	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	179660	114070389	83952041	3224	26726											
LSAMP	4045	broad.mit.edu	37	chr3	115561378	115561378	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgagtgaagcttgtcGtcctgtggtggcttcattgc	6	15	12	8	1	1	2	1	2	0	0	3	2	2	2	1	2	2	2	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:115561378G>A	ENST00000490035.2	-	5	1196	c.697C>T	c.(697-699)Cga>Tga	p.R233*	LSAMP_ENST00000539563.1_Nonsense_Mutation_p.R230*|LSAMP_ENST00000498645.1_5'UTR	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 3.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		GAAGCTTGTCGTCCTGTGGTG	0.517													A	115561378	G	A	115561378	4	1	364	1	0	0	0	0	0	1	0	0	9118	1153	40	1	331	1	LSAMP	3	115561378	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1490989	115561378	82461052	3225	26727											
IGSF11	152404	broad.mit.edu	37	chr3	118624442	118624442	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagaatttccatatgcttaCgtgaaataacctggagatcc	13	12	7	9	1	1	3	1	1	0	2	3	4	3	3	3	1	3	1	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118624442C>T	ENST00000354673.2	-	7	1081		c.e7+1		IGSF11_ENST00000425327.2_Splice_Site|IGSF11_ENST00000491903.1_Splice_Site|IGSF11_ENST00000441144.2_Intron|IGSF11_ENST00000489689.1_Intron|IGSF11_ENST00000393775.2_Splice_Site	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11						cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATATGCTTACGTGAAATAAC	0.428													T	118624442	C	T	118624442	5	4	364	1	0	0	0	0	0	0	1	0	7656	550	19	1	603	1	IGSF11	3	118624442	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3063064	118624442	79397988	3226	26728											
IGSF11	152404	broad.mit.edu	37	chr3	118649028	118649028	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaggttaatgagggcagcGctggtagtgaaagtgcaggg	10	9	18	4	1	0	3	0	3	0	0	0	3	0	3	0	4	2	5	0	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118649028G>A	ENST00000354673.2	-	4	524	c.144C>T	c.(142-144)agC>agT	p.S48S	IGSF11_ENST00000425327.2_Silent_p.S48S|IGSF11_ENST00000459718.1_5'UTR|IGSF11_ENST00000491903.1_Silent_p.S49S|IGSF11_ENST00000441144.2_Silent_p.S48S|IGSF11_ENST00000489689.1_Silent_p.S49S|IGSF11_ENST00000393775.2_Silent_p.S49S	NM_152538.2	NP_689751.2	Q5DX21	IGS11_HUMAN	immunoglobulin superfamily, member 11	49	Ig-like V-type.				cell adhesion|regulation of growth	integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGGCAGCGCTGGTAGTGA	0.542													A	118649028	G	A	118649028	2	1	364	1	0	0	0	0	0	0	0	1	7656	1078	38	1		1	IGSF11	3	118649028	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24586	118649028	79373402	3227	26729											
B4GALT4	8702	broad.mit.edu	37	chr3	118935107	118935107	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgcgttcacctcattGcctttgtctctagtgtggaa	5	16	9	11	2	4	0	2	0	2	0	5	1	4	1	2	1	2	2	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:118935107G>A	ENST00000467604.1	-	7	1273	c.882C>T	c.(880-882)ggC>ggT	p.G294G	B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.G294G|B4GALT4_ENST00000483209.1_Silent_p.G294G|B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000359213.3_Silent_p.G294G			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	294					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	TCACCTCATTGCCTTTGTCTC	0.453													A	118935107	G	A	118935107	2	1	364	1	0	0	0	0	0	0	0	1	1278	1306	46	2		2	B4GALT4	3	118935107	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	286079	118935107	79087323	3228	26730											
ARHGAP31	57514	broad.mit.edu	37	chr3	119128599	119128599	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccccagggccagagcCgaagctgtgcttctccatga	9	6	13	13	1	1	3	0	1	1	2	2	5	1	3	5	1	4	2	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119128599C>T	ENST00000264245.4	+	11	2434	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	634					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						GGGCCAGAGCCGAAGCTGTGC	0.532													T	119128599	C	T	119128599	2	4	364	1	0	0	0	0	0	0	0	1	883	639	23	1		1	ARHGAP31	3	119128599	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193492	119128599	78893831	3229	26731											
ARHGAP31	57514	broad.mit.edu	37	chr3	119134498	119134498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggacccagctcaaccagtgGgaccactcagaaacctgcca	12	4	10	15	0	2	1	2	0	0	1	2	3	2	3	5	2	4	1	5	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119134498G>A	ENST00000264245.4	+	12	4254	c.3722G>A	c.(3721-3723)gGg>gAg	p.G1241E		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	1241					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCAACCAGTGGGACCACTCAG	0.562													A	119134498	G	A	119134498	3	1	364	1	0	0	0	0	1	0	0	0	883	1232	43	2	3768	2	ARHGAP31	3	119134498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5899	119134498	78887932	3230	26732											
TMEM39A	55254	broad.mit.edu	37	chr3	119176890	119176890	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtacaagaagcaggatgaTtgtaaggataccaccacact	16	8	9	8	0	0	2	0	1	0	1	0	4	0	4	2	2	3	3	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119176890T>G	ENST00000319172.5	-	3	731	c.311A>C	c.(310-312)aAt>aCt	p.N104T	TMEM39A_ENST00000486159.1_5'UTR	NM_018266.1	NP_060736.1	Q9NV64	TM39A_HUMAN	transmembrane protein 39A	104						integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	13				GBM - Glioblastoma multiforme(114;0.244)		AGCAGGATGATTGTAAGGATA	0.373													G	119176890	T	G	119176890	3	3	364	1	0	0	0	0	1	0	0	0	16261	1493	52	5	1183	5	TMEM39A	3	119176890	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42392	119176890	78845540	3231	26733											
ADPRH	141	broad.mit.edu	37	chr3	119305312	119305312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgagcatcgagagtggtcGgatgacccaccaccacccaa	12	5	11	13	2	0	3	0	2	0	1	2	5	0	4	4	2	1	1	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119305312G>A	ENST00000478399.1	+	3	1884	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	ADPRH_ENST00000465513.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000478927.1_Missense_Mutation_p.R160Q|ADPRH_ENST00000357003.3_Missense_Mutation_p.R160Q			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	160					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GAGAGTGGTCGGATGACCCAC	0.587													A	119305312	G	A	119305312	3	1	364	1	0	0	0	0	1	0	0	0	331	1116	39	1	485	1	ADPRH	3	119305312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128422	119305312	78717118	3232	26734											
PLA1A	51365	broad.mit.edu	37	chr3	119328400	119328400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catggtgggacagctcttcgGaggccagctgggacagatca	9	7	15	10	1	2	1	1	0	1	1	3	4	2	4	1	5	2	2	1	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119328400G>T	ENST00000273371.4	+	4	611	c.539G>T	c.(538-540)gGa>gTa	p.G180V	PLA1A_ENST00000495992.1_Missense_Mutation_p.G164V|PLA1A_ENST00000488919.1_Missense_Mutation_p.G7V|PLA1A_ENST00000494440.1_Missense_Mutation_p.G164V	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	180					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CAGCTCTTCGGAGGCCAGCTG	0.532													T	119328400	G	T	119328400	3	4	364	1	0	0	0	0	1	0	0	0	12065	1174	41	4	553	4	PLA1A	3	119328400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23088	119328400	78694030	3233	26735											
PLA1A	51365	broad.mit.edu	37	chr3	119334871	119334871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttcagatttgggtattcGgattcccgttggacatgtgg	6	15	12	8	2	1	1	1	0	0	1	3	3	2	3	2	4	0	2	2	4	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119334871G>A	ENST00000273371.4	+	6	749	c.677G>A	c.(676-678)cGg>cAg	p.R226Q	PLA1A_ENST00000495992.1_Missense_Mutation_p.R210Q|PLA1A_ENST00000488919.1_Missense_Mutation_p.R53Q|PLA1A_ENST00000494440.1_Missense_Mutation_p.R210Q	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	226					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TTGGGTATTCGGATTCCCGTT	0.537													A	119334871	G	A	119334871	3	1	364	1	0	0	0	0	1	0	0	0	12065	1116	39	1	699	1	PLA1A	3	119334871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6471	119334871	78687559	3234	26736											
COX17	10063	broad.mit.edu	37	chr3	119394034	119394034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctcatgcattccttgtGggcctcaattagatgtccac	7	13	9	12	0	2	1	2	0	1	1	5	1	4	1	3	2	1	2	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119394034G>T	ENST00000261070.2	-	2	246	c.154C>A	c.(154-156)Cac>Aac	p.H52N	COX17_ENST00000484810.1_Missense_Mutation_p.H87N|COX17_ENST00000497116.1_Missense_Mutation_p.H52N	NM_005694.1	NP_005685.1	Q14061	COX17_HUMAN	COX17 cytochrome c oxidase copper chaperone	52					copper ion transport|generation of precursor metabolites and energy	mitochondrial intermembrane space	copper chaperone activity			central_nervous_system(1)|kidney(1)|large_intestine(1)	3				GBM - Glioblastoma multiforme(114;0.227)		CATTCCTTGTGGGCCTCAATT	0.343													T	119394034	G	T	119394034	3	4	364	1	0	0	0	0	1	0	0	0	3797	1348	47	4	41	4	COX17	3	119394034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59163	119394034	78628396	3235	26737											
NR1I2	8856	broad.mit.edu	37	chr3	119530454	119530454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaaagtgaacggacaGggactcagccactgggagtg	14	4	16	7	1	1	2	1	1	0	1	1	6	1	6	1	4	2	0	1	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:119530454G>T	ENST00000393716.2	+	4	2239	c.400G>T	c.(400-402)Ggg>Tgg	p.G134W	NR1I2_ENST00000466380.1_Missense_Mutation_p.G134W|NR1I2_ENST00000337940.4_Missense_Mutation_p.G173W	NM_003889.3	NP_003880	O75469	NR1I2_HUMAN	nuclear receptor subfamily 1, group I, member 2	134	Hinge.				drug export|exogenous drug catabolic process|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid metabolic process|xenobiotic metabolic process|xenobiotic transport	nucleoplasm	drug binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.175)	Estradiol(DB00783)|Ethinyl Estradiol(DB00977)|Rifampin(DB01045)|Vitamin E(DB00163)	TGAACGGACAGGGACTCAGCC	0.582													T	119530454	G	T	119530454	3	4	364	1	0	0	0	0	1	0	0	0	10696	1000	35	4	531	4	NR1I2	3	119530454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136420	119530454	78491976	3236	26738											
FSTL1	11167	broad.mit.edu	37	chr3	120121677	120121677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacaggtcatggctgtacaGacccaatttccacaggcaca	12	8	8	13	0	2	1	2	0	0	1	3	1	3	1	2	3	1	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120121677G>A	ENST00000295633.3	-	9	1139	c.783C>T	c.(781-783)gtC>gtT	p.V261V	FSTL1_ENST00000424703.2_Silent_p.V226V	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	261	VWFC.				BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		TGGCTGTACAGACCCAATTTC	0.522													A	120121677	G	A	120121677	2	1	364	1	0	0	0	0	0	0	0	1	6129	929	33	2		2	FSTL1	3	120121677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591223	120121677	77900753	3237	26739											
HGD	3081	broad.mit.edu	37	chr3	120352051	120352051	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgctggccttctcaaaGcagtcagcatcaggtccatg	9	10	9	13	0	3	0	3	0	1	0	5	0	4	0	3	2	3	3	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120352051G>T	ENST00000283871.5	-	13	1590	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	377					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCTTCTCAAAGCAGTCAGCAT	0.562													T	120352051	G	T	120352051	4	4	364	1	0	0	0	0	0	1	0	0	7139	963	34	4	214	4	HGD	3	120352051	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230374	120352051	77670379	3238	26740											
HGD	3081	broad.mit.edu	37	chr3	120365896	120365896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaggttccctttctgcGgaactgacaaaaaaagacag	15	8	10	8	1	1	3	0	2	1	2	2	5	2	4	1	2	2	1	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120365896G>A	ENST00000283871.5	-	8	932	c.473C>T	c.(472-474)cCg>cTg	p.P158L		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	158					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CCCTTTCTGCGGAACTGACAA	0.448													A	120365896	G	A	120365896	3	1	364	1	0	0	0	0	1	0	0	0	7139	1116	39	1	892	1	HGD	3	120365896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13845	120365896	77656534	3239	26741											
GTF2E1	2960	broad.mit.edu	37	chr3	120469544	120469544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaagaggaggatatgCtggagctgctcaagtttgat	11	11	15	4	0	1	3	1	2	0	1	1	6	1	6	0	3	3	4	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120469544C>T	ENST00000283875.5	+	2	238	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	49	HTH TFE/IIEalpha-type.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GGAGGATATGCTGGAGCTGCT	0.453													T	120469544	C	T	120469544	2	4	364	1	0	0	0	0	0	0	0	1	6911	796	28	2		2	GTF2E1	3	120469544	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103648	120469544	77552886	3240	26742											
GTF2E1	2960	broad.mit.edu	37	chr3	120489701	120489701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatttatgcattgcttcGggagacagaggatgtgaact	10	11	12	8	1	0	3	0	1	0	2	1	5	0	4	1	2	3	2	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120489701G>A	ENST00000283875.5	+	3	668	c.575G>A	c.(574-576)cGg>cAg	p.R192Q		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	192					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding	p.R192L(2)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		GCATTGCTTCGGGAGACAGAG	0.463													A	120489701	G	A	120489701	3	1	364	1	0	0	0	0	1	0	0	0	6911	1116	39	1	581	1	GTF2E1	3	120489701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20157	120489701	77532729	3241	26743											
GTF2E1	2960	broad.mit.edu	37	chr3	120500072	120500072	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactcagaaagcgagaccAgtgagtcagatgatgattct	13	9	12	7	1	3	7	2	4	1	3	3	8	3	7	1	0	1	0	1	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:120500072A>T	ENST00000283875.5	+	5	1168	c.1075A>T	c.(1075-1077)Agt>Tgt	p.S359C		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	359					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAGCGAGACCAGTGAGTCAGA	0.532													T	120500072	A	T	120500072	3	4	364	1	0	0	0	0	1	0	0	0	6911	188	7	5	1089	5	GTF2E1	3	120500072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10371	120500072	77522358	3242	26744											
STXBP5L	9515	broad.mit.edu	37	chr3	121126116	121126116	+	Missense_Mutation	SNP	G	G	A																															tcctctcattgaaaggagctGtgctaacattctcctgtatg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126116G>A	ENST00000273666.6	+	24	2957	c.2686G>A	c.(2686-2688)Gtg>Atg	p.V896M	STXBP5L_ENST00000497029.1_Missense_Mutation_p.V870M|STXBP5L_ENST00000471454.1_Missense_Mutation_p.V872M|STXBP5L_ENST00000492541.1_Missense_Mutation_p.V896M|STXBP5L_ENST00000472879.1_Missense_Mutation_p.V872M	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	896					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GAAAGGAGCTGTGCTAACATT	0.363													A	121126116	G	A	121126116	3	1	364	1	0	0	0	0	1	0	0	0	15453	1377	48	2	2776	2	STXBP5L	3	121126116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	626044	121126116	76896314	3243	26745	53	2									
STXBP5L	9515	broad.mit.edu	37	chr3	121126125	121126125	+	Missense_Mutation	SNP	T	T	C																															tgaaaggagctgtgctaacaTtctcctgtatggaccgaatg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121126125T>C	ENST00000273666.6	+	24	2966	c.2695T>C	c.(2695-2697)Ttc>Ctc	p.F899L	STXBP5L_ENST00000497029.1_Missense_Mutation_p.F873L|STXBP5L_ENST00000471454.1_Missense_Mutation_p.F875L|STXBP5L_ENST00000492541.1_Missense_Mutation_p.F899L|STXBP5L_ENST00000472879.1_Missense_Mutation_p.F875L	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	899					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		TGTGCTAACATTCTCCTGTAT	0.373													C	121126125	T	C	121126125	3	2	364	1	0	0	0	0	1	0	0	0	15453	1493	52	3	2785	3	STXBP5L	3	121126125	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9	121126125	76896305	3244	26746	53	2									
POLQ	10721	broad.mit.edu	37	chr3	121207592	121207592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctttgtttcatagtacCtacagtcttaaggtccaaat	11	15	6	9	0	2	0	1	0	1	0	3	0	3	0	2	1	3	3	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121207592C>A	ENST00000264233.5	-	16	4314	c.4186G>T	c.(4186-4188)Ggt>Tgt	p.G1396C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1396					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTCATAGTACCTACAGTCTTA	0.418								DNA polymerases (catalytic subunits)					A	121207592	C	A	121207592	3	1	364	1	0	0	0	0	1	0	0	0	12285	681	24	4	3646	4	POLQ	3	121207592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81467	121207592	76814838	3245	26747											
ARGFX	503582	broad.mit.edu	37	chr3	121304887	121304887	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttggttcaggaaccggCgattcaaattgaagaagcag	13	9	13	6	2	2	2	2	1	0	1	2	4	2	3	1	4	2	3	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121304887C>T	ENST00000334384.3	+	4	398	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	130						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		CAGGAACCGGCGATTCAAATT	0.522													T	121304887	C	T	121304887	4	4	364	1	0	0	0	0	0	1	0	0	862	760	27	1	402	1	ARGFX	3	121304887	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97295	121304887	76717543	3246	26748											
ARGFX	503582	broad.mit.edu	37	chr3	121305164	121305164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggttcctgctttgtactCtgatgcctatgacatattcc	6	16	7	12	1	1	2	0	2	1	0	4	2	3	2	3	1	3	3	3	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121305164C>A	ENST00000334384.3	+	4	675	c.665C>A	c.(664-666)tCt>tAt	p.S222Y		NM_001012659.1	NP_001012677.1	A6NJG6	ARGFX_HUMAN	arginine-fifty homeobox	222						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(114;0.152)		GCTTTGTACTCTGATGCCTAT	0.448													A	121305164	C	A	121305164	3	1	364	1	0	0	0	0	1	0	0	0	862	913	32	4	679	4	ARGFX	3	121305164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277	121305164	76717266	3247	26749											
FBXO40	51725	broad.mit.edu	37	chr3	121340550	121340550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgtgccccgccagcGtggtctgctgctccatggag	4	9	15	13	2	1	0	0	0	1	0	2	1	2	1	4	3	5	3	4	3	0	0	rs148128733	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121340550G>A	ENST00000338040.4	+	3	688	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	92					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CCCCGCCAGCGTGGTCTGCTG	0.567													A	121340550	G	A	121340550	3	1	364	1	0	0	0	0	1	0	0	0	5798	1145	40	1	280	1	FBXO40	3	121340550	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35386	121340550	76681880	3248	26750											
FBXO40	51725	broad.mit.edu	37	chr3	121341567	121341567	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggattttgccacacaaacaTacaactttgagccagaacag	15	9	7	10	0	0	2	0	1	0	1	0	3	0	3	2	1	6	0	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121341567T>A	ENST00000338040.4	+	3	1705	c.1291T>A	c.(1291-1293)Tac>Aac	p.Y431N		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	431					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CACACAAACATACAACTTTGA	0.527													A	121341567	T	A	121341567	3	1	364	1	0	0	0	0	1	0	0	0	5798	1406	49	5	1297	5	FBXO40	3	121341567	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1017	121341567	76680863	3249	26751											
GOLGB1	2804	broad.mit.edu	37	chr3	121396201	121396201	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaattcccttataagattCtgcagatgactgagctgctg	10	13	8	10	0	2	4	1	2	1	2	3	4	3	4	1	0	3	3	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121396201C>A	ENST00000393667.3	-	16	9080	c.8970G>T	c.(8968-8970)caG>caT	p.Q2990H	GOLGB1_ENST00000340645.5_Missense_Mutation_p.Q2985H	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2985					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATAAGATTCTGCAGATGAC	0.428													A	121396201	C	A	121396201	3	1	364	1	0	0	0	0	1	0	0	0	6618	912	32	4	852	4	GOLGB1	3	121396201	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54634	121396201	76626229	3250	26752											
GOLGB1	2804	broad.mit.edu	37	chr3	121410038	121410038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttctttggtgaccatgaGtaatttctgttccatctcca	8	18	6	9	0	3	2	0	2	3	0	5	2	4	2	3	1	0	2	3	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121410038G>T	ENST00000393667.3	-	14	8283	c.8173C>A	c.(8173-8175)Ctc>Atc	p.L2725I	GOLGB1_ENST00000340645.5_Missense_Mutation_p.L2720I	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2720					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGACCATGAGTAATTTCTGT	0.403													T	121410038	G	T	121410038	3	4	364	1	0	0	0	0	1	0	0	0	6618	1029	36	4	1657	4	GOLGB1	3	121410038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13837	121410038	76612392	3251	26753											
GOLGB1	2804	broad.mit.edu	37	chr3	121415041	121415041	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctagctgtgtatgcagAgccttaattaaatcttcttg	10	17	7	7	0	3	1	0	0	3	1	3	1	3	1	1	0	3	3	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121415041A>G	ENST00000393667.3	-	13	4439	c.4329T>C	c.(4327-4329)gcT>gcC	p.A1443A	GOLGB1_ENST00000340645.5_Silent_p.A1438A	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	1438					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTGTATGCAGAGCCTTAATTA	0.388													G	121415041	A	G	121415041	2	3	364	1	0	0	0	0	0	0	0	1	6618	291	11	3		3	GOLGB1	3	121415041	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5003	121415041	76607389	3252	26754											
GOLGB1	2804	broad.mit.edu	37	chr3	121433774	121433774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatgttgttgcaagggCagtctatttagaaattggct	9	16	11	5	0	2	1	1	0	1	1	2	1	2	1	0	2	1	6	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121433774C>T	ENST00000393667.3	-	10	1448	c.1338G>A	c.(1336-1338)ctG>ctA	p.L446L	GOLGB1_ENST00000340645.5_Silent_p.L441L	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	441					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		GTTGCAAGGGCAGTCTATTTA	0.323													T	121433774	C	T	121433774	2	4	364	1	0	0	0	0	0	0	0	1	6618	697	25	2		2	GOLGB1	3	121433774	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18733	121433774	76588656	3253	26755											
SLC15A2	6565	broad.mit.edu	37	chr3	121634112	121634112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttctcagtcttctacctGtccatcaatgcagggagctt	8	14	7	12	0	4	0	2	0	3	0	6	1	5	1	2	1	4	2	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121634112G>A	ENST00000489711.1	+	6	955	c.567G>A	c.(565-567)ctG>ctA	p.L189L	SLC15A2_ENST00000295605.2_Silent_p.L158L	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	189					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	TCTTCTACCTGTCCATCAATG	0.478													A	121634112	G	A	121634112	2	1	364	1	0	0	0	0	0	0	0	1	14493	1364	48	2		2	SLC15A2	3	121634112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200338	121634112	76388318	3254	26756											
ILDR1	286676	broad.mit.edu	37	chr3	121720628	121720628	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttccttatcggggtctcCtgatgtgtcccctggagcct	4	14	10	13	1	1	1	0	1	1	0	5	2	3	2	5	3	2	0	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:121720628C>A	ENST00000273691.3	-	4	568	c.463G>T	c.(463-465)Gga>Tga	p.G155*	ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000462014.1_Nonsense_Mutation_p.G167*|ILDR1_ENST00000344209.5_Nonsense_Mutation_p.G155*|ILDR1_ENST00000393631.1_Intron	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	155	Ig-like V-type.					cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		TCGGGGTCTCCTGATGTGTCC	0.488													A	121720628	C	A	121720628	4	1	364	1	0	0	0	0	0	1	0	0	7767	690	24	4	1061	4	ILDR1	3	121720628	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86516	121720628	76301802	3255	26757											
KPNA1	3836	broad.mit.edu	37	chr3	122170392	122170392	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccttacctttgcaaattCtggaggtggacttttccctc	7	15	8	11	0	1	0	0	0	1	0	4	2	3	2	3	3	2	1	3	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122170392C>A	ENST00000344337.6	-	8	918	c.742G>T	c.(742-744)Gaa>Taa	p.E248*	KPNA1_ENST00000466923.1_5'UTR	NM_002264.3	NP_002255.3	P52294	IMA1_HUMAN	karyopherin alpha 1 (importin alpha 5)	248	Binding to RAG1.				DNA fragmentation involved in apoptotic nuclear change|NLS-bearing substrate import into nucleus|regulation of DNA recombination|viral genome transport in host cell|viral infectious cycle	cytosol|nuclear pore|nucleoplasm	nuclear localization sequence binding|protein binding|protein transporter activity			NS(1)|breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	21				GBM - Glioblastoma multiforme(114;0.0898)		TTTGCAAATTCTGGAGGTGGA	0.398													A	122170392	C	A	122170392	4	1	364	1	0	0	0	0	0	1	0	0	8487	922	32	4	902	4	KPNA1	3	122170392	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	449764	122170392	75852038	3256	26758											
PARP9	83666	broad.mit.edu	37	chr3	122259582	122259582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggagactcaggattCtttggatccatgcgtgggcc	6	12	14	9	1	3	1	1	0	2	1	4	4	4	3	2	5	1	1	2	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122259582C>A	ENST00000462315.1	-	8	1795	c.1502G>T	c.(1501-1503)aGa>aTa	p.R501I	PARP9_ENST00000477522.2_Missense_Mutation_p.R501I|PARP9_ENST00000492382.1_Missense_Mutation_p.R81I|PARP9_ENST00000360356.2_Missense_Mutation_p.R536I|PARP9_ENST00000471785.1_Missense_Mutation_p.R501I	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	536					cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		ACTCAGGATTCTTTGGATCCA	0.433													A	122259582	C	A	122259582	3	1	364	1	0	0	0	0	1	0	0	0	11542	913	32	4	1026	4	PARP9	3	122259582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89190	122259582	75762848	3257	26759											
DTX3L	151636	broad.mit.edu	37	chr3	122287567	122287567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacagagaggaagccaCtcagtcagcaggagagggac	15	3	14	9	0	2	3	2	1	0	2	2	7	2	5	1	3	2	1	1	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122287567C>T	ENST00000296161.4	+	3	820	c.631C>T	c.(631-633)Ctc>Ttc	p.L211F	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	211					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GAGGAAGCCACTCAGTCAGCA	0.423													T	122287567	C	T	122287567	3	4	364	1	0	0	0	0	1	0	0	0	4835	565	20	2	641	2	DTX3L	3	122287567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27985	122287567	75734863	3258	26760											
DTX3L	151636	broad.mit.edu	37	chr3	122289445	122289445	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagtggggtactctcgCgtattaggagtctcagatgt	8	14	12	7	2	2	1	1	0	2	1	4	2	2	2	0	3	2	2	0	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122289445C>T	ENST00000296161.4	+	4	2268	c.2079C>T	c.(2077-2079)cgC>cgT	p.R693R	DTX3L_ENST00000383661.3_Silent_p.R181R	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	693					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		GGTACTCTCGCGTATTAGGAG	0.428													T	122289445	C	T	122289445	2	4	364	1	0	0	0	0	0	0	0	1	4835	755	27	1		1	DTX3L	3	122289445	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1878	122289445	75732985	3259	26761											
PARP15	165631	broad.mit.edu	37	chr3	122351054	122351054	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccgaacttgttcttcctaCgcaatagagaaggtaatact	13	11	7	10	2	1	1	0	0	1	1	2	3	2	1	2	1	3	3	2	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122351054C>T	ENST00000483793.1	+	7	1015	c.975C>T	c.(973-975)taC>taT	p.Y325Y	PARP15_ENST00000465304.1_3'UTR|PARP15_ENST00000464300.2_Silent_p.Y520Y|PARP15_ENST00000310366.4_Silent_p.Y286Y|PARP15_ENST00000493645.1_Silent_p.Y217Y			Q460N3	PAR15_HUMAN	poly (ADP-ribose) polymerase family, member 15	498	Macro 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	NAD+ ADP-ribosyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0531)		GTTCTTCCTACGCAATAGAGA	0.358													T	122351054	C	T	122351054	2	4	364	1	0	0	0	0	0	0	0	1	11535	547	19	1		1	PARP15	3	122351054	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61609	122351054	75671376	3260	26762											
PARP14	54625	broad.mit.edu	37	chr3	122437669	122437669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaatctgaaattagaGgatgcaaggagagaaaagaa	20	6	11	4	0	1	5	0	2	1	3	1	8	1	7	1	2	1	1	1	2	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122437669G>T	ENST00000474629.2	+	14	4937	c.4671G>T	c.(4669-4671)gaG>gaT	p.E1557D	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1557	WWE.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGAAATTAGAGGATGCAAGGA	0.378													T	122437669	G	T	122437669	3	4	364	1	0	0	0	0	1	0	0	0	11534	991	35	4	4725	4	PARP14	3	122437669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86615	122437669	75584761	3261	26763											
PARP14	54625	broad.mit.edu	37	chr3	122447187	122447187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagggaacctattttgctGtcaatgccaattattctgcc	11	13	8	9	0	2	0	1	0	1	0	2	2	2	1	3	1	4	1	3	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122447187G>A	ENST00000474629.2	+	17	5415	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1717	PARP catalytic.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	NAD+ ADP-ribosyltransferase activity			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		CTATTTTGCTGTCAATGCCAA	0.373													A	122447187	G	A	122447187	3	1	364	1	0	0	0	0	1	0	0	0	11534	1377	48	2	5215	2	PARP14	3	122447187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9518	122447187	75575243	3262	26764											
HSPBAP1	79663	broad.mit.edu	37	chr3	122496626	122496626	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgccatgaaggacctgCgaaaggtatttagcattcca	11	11	10	9	1	0	1	0	1	0	0	1	3	1	2	3	2	4	3	3	2	4	5	rs149404291		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122496626C>T	ENST00000383659.1	-	2	314	c.192G>A	c.(190-192)tcG>tcA	p.S64S	HSPBAP1_ENST00000465044.1_5'UTR|HSPBAP1_ENST00000306103.2_Silent_p.S64S			Q96EW2	HBAP1_HUMAN	HSPB (heat shock 27kDa) associated protein 1	64			S -> A (in dbSNP:rs16833517).			cytoplasm				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|urinary_tract(1)	16				GBM - Glioblastoma multiforme(114;0.0531)		GAAGGACCTGCGAAAGGTATT	0.413													T	122496626	C	T	122496626	2	4	364	1	0	0	0	0	0	0	0	1	7483	755	27	1		1	HSPBAP1	3	122496626	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49439	122496626	75525804	3263	26765											
DIRC2	84925	broad.mit.edu	37	chr3	122545775	122545775	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagctattgcatcaatgcTcagttatcttgggggagcat	10	12	10	9	0	3	0	2	0	1	0	3	1	3	1	0	2	4	5	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122545775T>G	ENST00000261038.5	+	3	964	c.566T>G	c.(565-567)cTc>cGc	p.L189R		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	189					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GCATCAATGCTCAGTTATCTT	0.502													G	122545775	T	G	122545775	3	3	364	1	0	0	0	0	1	0	0	0	4573	1551	54	5	576	5	DIRC2	3	122545775	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49149	122545775	75476655	3264	26766											
DIRC2	84925	broad.mit.edu	37	chr3	122591370	122591370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagttccagaaggaattaCttgtggagttgtcacttttt	9	15	9	8	0	1	1	1	0	0	1	2	3	2	3	2	2	1	2	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122591370C>A	ENST00000261038.5	+	8	1645	c.1247C>A	c.(1246-1248)aCt>aAt	p.T416N		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	416					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GAAGGAATTACTTGTGGAGTT	0.333													A	122591370	C	A	122591370	3	1	364	1	0	0	0	0	1	0	0	0	4573	565	20	4	1277	4	DIRC2	3	122591370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45595	122591370	75431060	3265	26767											
SEMA5B	54437	broad.mit.edu	37	chr3	122641112	122641112	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgtagagtacatggtaGagcgtgtctttagcctgcac	10	11	11	9	1	1	2	0	0	1	2	1	2	1	2	2	1	4	4	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122641112G>T	ENST00000195173.4	-	11	1758	c.1455C>A	c.(1453-1455)ctC>ctA	p.L485L	SEMA5B_ENST00000451055.2_Silent_p.L539L|SEMA5B_ENST00000357599.3_Silent_p.L485L			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	485	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		GTACATGGTAGAGCGTGTCTT	0.667													T	122641112	G	T	122641112	2	4	364	1	0	0	0	0	0	0	0	1	14131	929	33	4		4	SEMA5B	3	122641112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49742	122641112	75381318	3266	26768											
SEMA5B	54437	broad.mit.edu	37	chr3	122646755	122646755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctgcatagagctccccCtgggaggagatgacagctgt	8	8	15	10	0	0	3	0	1	0	2	1	5	1	4	2	3	3	4	2	3	1	1	rs144152379	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:122646755C>A	ENST00000195173.4	-	8	1035	c.732G>T	c.(730-732)caG>caT	p.Q244H	SEMA5B_ENST00000451055.2_Missense_Mutation_p.Q298H|SEMA5B_ENST00000357599.3_Missense_Mutation_p.Q244H			Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	244	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		AGAGCTCCCCCTGGGAGGAGA	0.617													A	122646755	C	A	122646755	3	1	364	1	0	0	0	0	1	0	0	0	14131	680	24	4	2787	4	SEMA5B	3	122646755	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5643	122646755	75375675	3267	26769											
ADCY5	111	broad.mit.edu	37	chr3	123038541	123038541	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcttctctaagtcaggctCcctgaaggtcaggaggaact	9	11	10	11	0	4	1	2	1	2	0	6	3	5	3	1	4	1	1	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123038541C>A	ENST00000462833.1	-	10	3448	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*	ADCY5_ENST00000309879.5_Nonsense_Mutation_p.E396*|ADCY5_ENST00000491190.1_Nonsense_Mutation_p.E379*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	746					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		AAGTCAGGCTCCCTGAAGGTC	0.582													A	123038541	C	A	123038541	4	1	364	1	0	0	0	0	0	1	0	0	297	864	30	4	1597	4	ADCY5	3	123038541	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391786	123038541	74983889	3268	26770											
MYLK	4638	broad.mit.edu	37	chr3	123451899	123451899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttcctgtctcctcaCgggggtgccttccaggaacc	4	10	11	16	1	2	0	1	0	1	0	5	1	4	1	6	3	3	1	6	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123451899C>T	ENST00000360772.3	-	12	1738	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	MYLK_ENST00000360304.3_Missense_Mutation_p.V454M|MYLK_ENST00000346322.5_Intron|MYLK_ENST00000475616.1_Missense_Mutation_p.V454M|MYLK_ENST00000359169.1_Missense_Mutation_p.V454M			Q15746	MYLK_HUMAN	myosin light chain kinase	454	Ig-like C2-type 3.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TGTCTCCTCACGGGGGTGCCT	0.577													T	123451899	C	T	123451899	3	4	364	1	0	0	0	0	1	0	0	0	10132	536	19	1	4480	1	MYLK	3	123451899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413358	123451899	74570531	3269	26771											
MYLK	4638	broad.mit.edu	37	chr3	123452870	123452870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgggcgagtccttgcAtgactccagcttggactccc	5	11	11	14	2	1	1	0	1	1	0	4	3	4	2	3	2	2	3	3	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:123452870A>G	ENST00000360772.3	-	11	1351	c.973T>C	c.(973-975)Tgc>Cgc	p.C325R	MYLK_ENST00000360304.3_Missense_Mutation_p.C325R|MYLK_ENST00000346322.5_Missense_Mutation_p.C325R|MYLK_ENST00000475616.1_Missense_Mutation_p.C325R|MYLK_ENST00000359169.1_Missense_Mutation_p.C325R			Q15746	MYLK_HUMAN	myosin light chain kinase	325					aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		GAGTCCTTGCATGACTCCAGC	0.632													G	123452870	A	G	123452870	3	3	364	1	0	0	0	0	1	0	0	0	10132	217	8	3	4871	3	MYLK	3	123452870	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	971	123452870	74569560	3270	26772											
KALRN	8997	broad.mit.edu	37	chr3	124017690	124017690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctccagagccacacggAgatcggagtcagctaccagt	11	7	10	13	2	1	2	1	0	0	2	4	4	3	3	4	2	3	1	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124017690A>G	ENST00000360013.3	+	6	1143	c.1016A>G	c.(1015-1017)gAg>gGg	p.E339G	KALRN_ENST00000240874.3_Missense_Mutation_p.E339G|KALRN_ENST00000460856.1_Missense_Mutation_p.E339G	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	339					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGCCACACGGAGATCGGAGTC	0.522													G	124017690	A	G	124017690	3	3	364	1	0	0	0	0	1	0	0	0	8033	304	11	3	1038	3	KALRN	3	124017690	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	564820	124017690	74004740	3271	26773											
KALRN	8997	broad.mit.edu	37	chr3	124103819	124103819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcatccaagacttcgtgcGcagggtggagcagcggaagc	9	5	16	11	4	0	1	0	0	0	1	2	3	1	3	1	3	4	3	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124103819G>A	ENST00000360013.3	+	11	2019	c.1892G>A	c.(1891-1893)cGc>cAc	p.R631H	KALRN_ENST00000240874.3_Missense_Mutation_p.R631H|KALRN_ENST00000460856.1_Missense_Mutation_p.R631H	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	631					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACTTCGTGCGCAGGGTGGAG	0.572													A	124103819	G	A	124103819	3	1	364	1	0	0	0	0	1	0	0	0	8033	1087	38	1	1934	1	KALRN	3	124103819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86129	124103819	73918611	3272	26774											
KALRN	8997	broad.mit.edu	37	chr3	124181472	124181472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atccaagagatctacgatttCcataacaagtaggtttgtgg	13	12	9	7	1	1	1	0	0	1	1	3	3	3	1	2	2	2	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124181472C>A	ENST00000360013.3	+	25	4144	c.4017C>A	c.(4015-4017)ttC>ttA	p.F1339L	KALRN_ENST00000240874.3_Missense_Mutation_p.F1339L|KALRN_ENST00000460856.1_Missense_Mutation_p.F1330L	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1339	DH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						TCTACGATTTCCATAACAAGT	0.483													A	124181472	C	A	124181472	3	1	364	1	0	0	0	0	1	0	0	0	8033	854	30	4	4115	4	KALRN	3	124181472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77653	124181472	73840958	3273	26775											
KALRN	8997	broad.mit.edu	37	chr3	124215217	124215217	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccaaccagacaccatctCcattgcttctaggacctctc	10	9	5	17	0	3	1	0	0	3	1	5	2	3	2	5	1	3	1	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124215217C>A	ENST00000360013.3	+	33	5013	c.4886C>A	c.(4885-4887)tCc>tAc	p.S1629Y	KALRN_ENST00000240874.3_Missense_Mutation_p.S1629Y|KALRN_ENST00000460856.1_Missense_Mutation_p.S1620Y	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1629					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GACACCATCTCCATTGCTTCT	0.547													A	124215217	C	A	124215217	3	1	364	1	0	0	0	0	1	0	0	0	8033	855	30	4	5016	4	KALRN	3	124215217	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33745	124215217	73807213	3274	26776											
KALRN	8997	broad.mit.edu	37	chr3	124377281	124377281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctctgctctttcaggagCggaagctgcacatctacgtg	7	12	10	12	2	5	0	1	0	4	0	6	2	5	2	0	2	5	3	0	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124377281C>T	ENST00000291478.5	+	9	1109	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	KALRN_ENST00000360013.3_Missense_Mutation_p.R2013W|KALRN_ENST00000393496.1_Missense_Mutation_p.R354W|KALRN_ENST00000459915.1_Missense_Mutation_p.R105W|KALRN_ENST00000428018.2_Missense_Mutation_p.R284W	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						CTTTCAGGAGCGGAAGCTGCA	0.507													T	124377281	C	T	124377281	3	4	364	1	0	0	0	0	1	0	0	0	8033	759	27	1	6359	1	KALRN	3	124377281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162064	124377281	73645149	3275	26777											
MUC13	56667	broad.mit.edu	37	chr3	124635295	124635295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattaacaaacttgtcatcaGcacgcatttcagatcttggt	12	13	6	10	1	4	1	3	0	1	1	4	1	4	1	0	1	3	2	0	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124635295G>A	ENST00000311075.3	-	6	868	c.830C>T	c.(829-831)gCt>gTt	p.A277V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	277	SEA.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						CTTGTCATCAGCACGCATTTC	0.333													A	124635295	G	A	124635295	3	1	364	1	0	0	0	0	1	0	0	0	10047	971	34	2	729	2	MUC13	3	124635295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258014	124635295	73387135	3276	26778											
SLC12A8	84561	broad.mit.edu	37	chr3	124906141	124906141	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacccaggaccgaggaGatcatggagtagacgccacc	11	4	12	14	2	1	2	1	0	0	2	1	6	1	4	5	3	1	1	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124906141G>T	ENST00000423114.2	-	4	416	c.417C>A	c.(415-417)atC>atA	p.I139I	SLC12A8_ENST00000314584.7_5'UTR|SLC12A8_ENST00000393469.4_Silent_p.I110I|SLC12A8_ENST00000469902.1_Silent_p.I110I			A0AV02	S12A8_HUMAN	solute carrier family 12, member 8	110					potassium ion transport	integral to membrane	symporter activity			endometrium(2)|kidney(2)|lung(12)	16						GGACCGAGGAGATCATGGAGT	0.662													T	124906141	G	T	124906141	2	4	364	1	0	0	0	0	0	0	0	1	14483	932	33	4		4	SLC12A8	3	124906141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270846	124906141	73116289	3277	26779											
ZNF148	7707	broad.mit.edu	37	chr3	124952746	124952746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgattttcatggcacataCgtttatgtttcaatacacga	12	15	6	8	2	2	1	2	1	0	0	2	2	2	1	0	1	2	3	0	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:124952746C>T	ENST00000360647.4	-	9	1309	c.824G>A	c.(823-825)cGt>cAt	p.R275H	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.R275H|ZNF148_ENST00000485866.1_Missense_Mutation_p.R275H|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.R275H	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	275					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						ATGGCACATACGTTTATGTTT	0.373													T	124952746	C	T	124952746	3	4	364	1	0	0	0	0	1	0	0	0	17835	536	19	1	1564	1	ZNF148	3	124952746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46605	124952746	73069684	3278	26780											
SNX4	8723	broad.mit.edu	37	chr3	125170247	125170247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgttcaatatcagcccatgCgtttttcacaaattctctga	10	14	6	11	2	4	1	3	1	1	0	5	1	4	1	1	0	2	2	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125170247C>T	ENST00000251775.4	-	13	1231	c.1207G>A	c.(1207-1209)Gca>Aca	p.A403T	SNX4_ENST00000536067.1_Missense_Mutation_p.A258T	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	403					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TCAGCCCATGCGTTTTTCACA	0.358													T	125170247	C	T	125170247	3	4	364	1	0	0	0	0	1	0	0	0	14998	768	27	1	153	1	SNX4	3	125170247	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217501	125170247	72852183	3279	26781											
SNX4	8723	broad.mit.edu	37	chr3	125208288	125208288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgaatgttgcattaagcGcttttaacctggagtctgcc	8	14	9	10	1	2	1	0	1	2	0	2	2	2	2	2	1	4	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125208288G>A	ENST00000251775.4	-	6	641	c.617C>T	c.(616-618)gCg>gTg	p.A206V	SNX4_ENST00000473417.1_Intron|SNX4_ENST00000536067.1_Missense_Mutation_p.A61V	NM_003794.2	NP_003785.1	O95219	SNX4_HUMAN	sorting nexin 4	206					cell communication|endocytic recycling|endocytosis|protein transport	cytoplasmic dynein complex|early endosome membrane	phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|lung(6)|ovary(1)|skin(1)	11						TGCATTAAGCGCTTTTAACCT	0.294													A	125208288	G	A	125208288	3	1	364	1	0	0	0	0	1	0	0	0	14998	1087	38	1	771	1	SNX4	3	125208288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38041	125208288	72814142	3280	26782											
OSBPL11	114885	broad.mit.edu	37	chr3	125295110	125295110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtttggaatgtccaacatTaaaaaaagaaatggcatttt	17	12	7	5	0	0	1	0	0	0	1	1	2	1	2	1	2	1	2	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125295110T>C	ENST00000296220.5	-	5	878	c.589A>G	c.(589-591)Aat>Gat	p.N197D		NM_022776.4	NP_073613.2	Q9BXB4	OSB11_HUMAN	oxysterol binding protein-like 11	197					lipid transport		lipid binding			NS(1)|breast(1)|cervix(1)|kidney(2)|large_intestine(8)|lung(9)|ovary(3)|prostate(1)|skin(1)	27						TGTCCAACATTAAAAAAAGAA	0.383													C	125295110	T	C	125295110	3	2	364	1	0	0	0	0	1	0	0	0	11352	1754	61	3	1690	3	OSBPL11	3	125295110	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86822	125295110	72727320	3281	26783											
ROPN1B	152015	broad.mit.edu	37	chr3	125694466	125694466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagagcggtctgagcgagtCgctttgtgtaactgggcaga	9	9	16	7	3	1	3	0	1	1	2	2	5	1	3	0	2	3	3	0	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125694466C>T	ENST00000514116.1	+	4	492	c.177C>T	c.(175-177)gtC>gtT	p.V59V	ROPN1B_ENST00000251776.4_Silent_p.V59V|ROPN1B_ENST00000505382.1_5'UTR|ROPN1B_ENST00000511082.1_5'Flank			Q9BZX4	ROP1B_HUMAN	rhophilin associated tail protein 1B	59					acrosome reaction|cell-cell adhesion|cytokinesis|fusion of sperm to egg plasma membrane|Rho protein signal transduction|sperm motility|spermatogenesis	cytoplasm|flagellum	cAMP-dependent protein kinase regulator activity|protein heterodimerization activity|protein homodimerization activity|receptor signaling complex scaffold activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(114;0.151)		CTGAGCGAGTCGCTTTGTGTA	0.512													T	125694466	C	T	125694466	2	4	364	1	0	0	0	0	0	0	0	1	13615	871	31	1		1	ROPN1B	3	125694466	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	399356	125694466	72327964	3282	26784											
SLC41A3	54946	broad.mit.edu	37	chr3	125741743	125741743	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggttgaccccgagctttcGagcaccaatcactatacaga	11	9	9	12	2	1	2	1	1	0	1	2	4	1	2	3	1	3	3	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125741743G>A	ENST00000383598.2	-	5	838	c.553C>T	c.(553-555)Cga>Tga	p.R185*	SLC41A3_ENST00000360370.4_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000508835.1_Nonsense_Mutation_p.R94*|SLC41A3_ENST00000315891.6_Nonsense_Mutation_p.R211*|SLC41A3_ENST00000346785.5_Nonsense_Mutation_p.R175*	NM_001008487.1	NP_001008487.1	Q96GZ6	S41A3_HUMAN	solute carrier family 41, member 3	211						integral to membrane|plasma membrane	cation transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(6)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18				GBM - Glioblastoma multiforme(114;0.167)		CCGAGCTTTCGAGCACCAATC	0.547													A	125741743	G	A	125741743	4	1	364	1	0	0	0	0	0	1	0	0	14725	1066	37	1	1018	1	SLC41A3	3	125741743	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47277	125741743	72280687	3283	26785											
ALDH1L1	10840	broad.mit.edu	37	chr3	125828946	125828946	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttcatcttccgcacctCttctacctgcagaaagtcct	8	12	4	17	1	4	1	1	0	3	1	6	1	6	1	5	0	2	2	5	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125828946C>A	ENST00000393434.2	-	20	2537	c.2188G>T	c.(2188-2190)Gag>Tag	p.E730*	ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.E740*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.E730*|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.E629*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	730	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TTCCGCACCTCTTCTACCTGC	0.577													A	125828946	C	A	125828946	4	1	364	1	0	0	0	0	0	1	0	0	494	922	32	4	536	4	ALDH1L1	3	125828946	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87203	125828946	72193484	3284	26786											
ALDH1L1	10840	broad.mit.edu	37	chr3	125872275	125872275	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcaggcaagtgacccacagCcgtgcccttaccattttgtc	9	9	9	14	1	0	1	0	1	0	0	1	1	0	1	4	1	4	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:125872275C>T	ENST00000455064.2	-	6	768	c.345G>A	c.(343-345)cgG>cgA	p.R115R	ALDH1L1_ENST00000393434.2_Intron|ALDH1L1_ENST00000413612.1_Intron|ALDH1L1_ENST00000452905.2_Intron|ALDH1L1_ENST00000472186.1_Intron|ALDH1L1_ENST00000273450.3_Intron|ALDH1L1_ENST00000393431.2_Intron			O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	0	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	TGACCCACAGCCGTGCCCTTA	0.562													T	125872275	C	T	125872275	2	4	364	1	0	0	0	0	0	0	0	1	494	754	26	2		2	ALDH1L1	3	125872275	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43329	125872275	72150155	3285	26787											
CCDC37	348807	broad.mit.edu	37	chr3	126138971	126138971	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggtacaaagaagccctgGaggtttctgcagacgatgcg	11	7	14	9	2	1	2	0	0	1	2	1	4	1	3	1	3	4	3	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126138971G>T	ENST00000393425.1	+	11	1083	c.984G>T	c.(982-984)tgG>tgT	p.W328C	CCDC37_ENST00000505024.1_Missense_Mutation_p.W328C|CCDC37_ENST00000352312.1_Missense_Mutation_p.W327C			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	327										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AGAAGCCCTGGAGGTTTCTGC	0.652													T	126138971	G	T	126138971	3	4	364	1	0	0	0	0	1	0	0	0	2836	1183	41	4	1019	4	CCDC37	3	126138971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266696	126138971	71883459	3286	26788											
ZXDC	79364	broad.mit.edu	37	chr3	126178503	126178503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacggcctcacctgcattGctccccgctcctctctgctt	4	11	6	20	2	2	0	1	0	1	0	5	0	4	0	5	1	3	4	5	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178503G>A	ENST00000389709.3	-	7	2258	c.2205C>T	c.(2203-2205)agC>agT	p.S735S		NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	735					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CACCTGCATTGCTCCCCGCTC	0.537													A	126178503	G	A	126178503	2	1	364	1	0	0	0	0	0	0	0	1	18349	1310	46	2		2	ZXDC	3	126178503	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39532	126178503	71843927	3287	26789											
ZXDC	79364	broad.mit.edu	37	chr3	126178581	126178581	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgagcccccactttcCtgagaccaaagaaaagcatg	12	8	8	13	0	0	3	0	2	0	2	1	4	1	3	4	0	3	2	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126178581C>A	ENST00000389709.3	-	7	2181		c.e7-1			NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C						positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		CCCCACTTTCCTGAGACCAAA	0.507													A	126178581	C	A	126178581	5	1	364	1	0	0	0	0	0	0	1	0	18349	695	24	4	465	4	ZXDC	3	126178581	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	126178581	71843849	3288	26790											
UROC1	131669	broad.mit.edu	37	chr3	126224682	126224682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacgtgcagcattcaacacGgtgagctgcagggagaagag	12	5	15	9	3	1	3	1	1	0	2	1	5	1	3	0	2	5	4	0	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126224682G>A	ENST00000290868.2	-	8	728	c.675C>T	c.(673-675)acC>acT	p.T225T	UROC1_ENST00000383579.3_Silent_p.T225T	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	225					histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		CATTCAACACGGTGAGCTGCA	0.662													A	126224682	G	A	126224682	2	1	364	1	0	0	0	0	0	0	0	1	17130	1103	39	1		1	UROC1	3	126224682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46101	126224682	71797748	3289	26791											
CHST13	166012	broad.mit.edu	37	chr3	126255145	126255145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagccctgggctccagctgGcttggtggggagaagagaag	9	6	18	8	0	0	3	0	0	0	3	1	5	1	3	2	5	2	3	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126255145G>T	ENST00000319340.2	+	2	179	c.129G>T	c.(127-129)tgG>tgT	p.W43C		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	43					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCTCCAGCTGGCTTGGTGGGG	0.597													T	126255145	G	T	126255145	3	4	364	1	0	0	0	0	1	0	0	0	3431	1212	42	4	135	4	CHST13	3	126255145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30463	126255145	71767285	3290	26792											
C3orf22	152065	broad.mit.edu	37	chr3	126268739	126268739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctggacagccctgccGccttgctggtctgggggcag	3	7	16	15	1	1	0	0	0	1	0	1	1	1	1	5	5	3	2	5	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126268739G>A	ENST00000318225.2	-	4	776	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_152533.1	NP_689746.1	Q8N5N4	CC022_HUMAN	chromosome 3 open reading frame 22	133										large_intestine(1)|lung(3)|ovary(2)|prostate(1)	7				GBM - Glioblastoma multiforme(114;0.147)		CAGCCCTGCCGCCTTGCTGGT	0.627													A	126268739	G	A	126268739	3	1	364	1	0	0	0	0	1	0	0	0	2236	1087	38	1	31	1	C3orf22	3	126268739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13594	126268739	71753691	3291	26793											
PLXNA1	5361	broad.mit.edu	37	chr3	126708301	126708301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtgcggctctgtgtggacGaccccaaattctactcgtac	7	11	10	13	4	2	0	0	0	2	0	4	2	2	1	2	2	3	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126708301G>A	ENST00000393409.2	+	1	865	c.865G>A	c.(865-867)Gac>Aac	p.D289N	PLXNA1_ENST00000251772.4_Missense_Mutation_p.D266N	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	289	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGTGTGGACGACCCCAAATT	0.622													A	126708301	G	A	126708301	3	1	364	1	0	0	0	0	1	0	0	0	12196	1058	37	1	867	1	PLXNA1	3	126708301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	439562	126708301	71314129	3292	26794											
PLXNA1	5361	broad.mit.edu	37	chr3	126734114	126734114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggaagccacctgaacgcaGgcagtgatgtggctgtgtcg	9	7	16	9	2	0	2	0	2	0	0	1	3	0	3	2	3	2	3	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126734114G>T	ENST00000393409.2	+	14	2965	c.2965G>T	c.(2965-2967)Ggc>Tgc	p.G989C	PLXNA1_ENST00000251772.4_Missense_Mutation_p.G966C	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	989	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCTGAACGCAGGCAGTGATGT	0.662													T	126734114	G	T	126734114	3	4	364	1	0	0	0	0	1	0	0	0	12196	1000	35	4	3019	4	PLXNA1	3	126734114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25813	126734114	71288316	3293	26795											
PLXNA1	5361	broad.mit.edu	37	chr3	126735848	126735848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccgtgaaccccgaatcCgggccaagtatggaggcatt	9	8	12	12	3	0	1	0	1	0	0	2	3	2	2	5	3	1	2	5	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126735848C>T	ENST00000393409.2	+	16	3244	c.3244C>T	c.(3244-3246)Cgg>Tgg	p.R1082W	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1059W	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1082	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		ACCCCGAATCCGGGCCAAGTA	0.637													T	126735848	C	T	126735848	3	4	364	1	0	0	0	0	1	0	0	0	12196	643	23	1	3306	1	PLXNA1	3	126735848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1734	126735848	71286582	3294	26796											
PLXNA1	5361	broad.mit.edu	37	chr3	126739187	126739187	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgctcaaggagatggaGgtaggaccactggctccggg	8	7	16	10	1	1	1	1	0	0	1	2	4	2	3	3	6	1	3	3	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:126739187G>T	ENST00000393409.2	+	20	4038	c.4038G>T	c.(4036-4038)gaG>gaT	p.E1346D	PLXNA1_ENST00000251772.4_Splice_Site_p.E1323D	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1346					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGGAGATGGAGGTAGGACCAC	0.602													T	126739187	G	T	126739187	5	4	364	1	0	0	0	0	0	0	1	0	12196	1014	35	4	4116	4	PLXNA1	3	126739187	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3339	126739187	71283243	3295	26797											
PODXL2	50512	broad.mit.edu	37	chr3	127390345	127390345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaggtgcgcagcgactaCggcacgctcttcgtggtgct	6	8	14	13	5	1	0	0	0	1	0	2	1	1	0	1	3	5	4	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127390345C>T	ENST00000342480.6	+	7	1533	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y		NM_015720.2	NP_056535.1	Q9NZ53	PDXL2_HUMAN	podocalyxin-like 2	498					leukocyte tethering or rolling	integral to plasma membrane	glycosaminoglycan binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	26						GCAGCGACTACGGCACGCTCT	0.627													T	127390345	C	T	127390345	2	4	364	1	0	0	0	0	0	0	0	1	12258	547	19	1		1	PODXL2	3	127390345	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	651158	127390345	70632085	3296	26798											
MGLL	11343	broad.mit.edu	37	chr3	127413948	127413948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagggcgcgctccaccCgtgagacggcattcagcagt	7	6	16	12	4	1	1	1	1	0	1	2	3	2	2	2	4	1	3	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127413948C>T	ENST00000434178.2	-	7	1552	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	MGLL_ENST00000398101.3_Missense_Mutation_p.R193Q|MGLL_ENST00000476682.1_5'UTR|MGLL_ENST00000453507.2_Missense_Mutation_p.R199Q|MGLL_ENST00000398104.1_Missense_Mutation_p.R219Q|MGLL_ENST00000265052.5_Missense_Mutation_p.R229Q			Q99685	MGLL_HUMAN	monoglyceride lipase	219					arachidonic acid metabolic process|fatty acid biosynthetic process|inflammatory response|platelet activation|regulation of endocannabinoid signaling pathway|regulation of inflammatory response|regulation of sensory perception of pain|triglyceride catabolic process	plasma membrane	acylglycerol lipase activity|carboxylesterase activity|lysophospholipase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6						GCGCTCCACCCGTGAGACGGC	0.607													T	127413948	C	T	127413948	3	4	364	1	0	0	0	0	1	0	0	0	9631	652	23	1	263	1	MGLL	3	127413948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23603	127413948	70608482	3297	26799											
KBTBD12	166348	broad.mit.edu	37	chr3	127642601	127642601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttcttttttaagacaaGccctaagaaggaacacaatg	15	11	6	9	0	1	2	0	0	1	2	2	3	2	3	2	1	2	0	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642601G>T	ENST00000405109.1	+	2	1164	c.697G>T	c.(697-699)Gcc>Tcc	p.A233S	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000405256.1_Missense_Mutation_p.A233S|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	233	BACK.									endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						TTTAAGACAAGCCCTAAGAAG	0.383													T	127642601	G	T	127642601	3	4	364	1	0	0	0	0	1	0	0	0	8049	971	34	4	699	4	KBTBD12	3	127642601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228653	127642601	70379829	3298	26800											
KBTBD12	166348	broad.mit.edu	37	chr3	127642974	127642974	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaatgttgaaatttataGgtttgtatctagcagcaaat	15	14	8	4	0	1	2	0	1	1	1	1	2	1	2	0	1	2	5	0	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127642974G>T	ENST00000405109.1	+	2	1537	c.1070G>T	c.(1069-1071)aGg>aTg	p.R357M	KBTBD12_ENST00000407609.3_Intron|KBTBD12_ENST00000492025.1_3'UTR|KBTBD12_ENST00000405256.1_Splice_Site_p.R357M|KBTBD12_ENST00000343941.4_Intron			Q3ZCT8	KBTBC_HUMAN	kelch repeat and BTB (POZ) domain containing 12	357										endometrium(1)|large_intestine(6)|lung(5)|ovary(1)	13						GAAATTTATAGGTTTGTATCT	0.318													T	127642974	G	T	127642974	5	4	364	1	0	0	0	0	0	0	1	0	8049	1014	35	4	1072	4	KBTBD12	3	127642974	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	373	127642974	70379456	3299	26801											
RUVBL1	8607	broad.mit.edu	37	chr3	127831743	127831743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctacttaccaatggccctgcGgaagttctccatcagcacct	9	10	7	15	1	2	0	1	0	1	0	3	1	2	1	4	2	4	2	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:127831743G>A	ENST00000464873.1	-	3	919	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RUVBL1_ENST00000322623.5_Missense_Mutation_p.R117C|RUVBL1_ENST00000417360.1_Missense_Mutation_p.R117C			Q9Y265	RUVB1_HUMAN	RuvB-like AAA ATPase 1	117					cell division|CenH3-containing nucleosome assembly at centromere|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|mitosis|regulation of growth|regulation of transcription from RNA polymerase II promoter|spermatogenesis|transcription, DNA-dependent	Golgi apparatus|Ino80 complex|membrane|microtubule organizing center|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|DNA helicase activity|protein binding	p.R117C(2)		endometrium(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26				GBM - Glioblastoma multiforme(114;0.181)		ATGGCCCTGCGGAAGTTCTCC	0.512													A	127831743	G	A	127831743	3	1	364	1	0	0	0	0	1	0	0	0	13843	1116	39	1	1057	1	RUVBL1	3	127831743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188769	127831743	70190687	3300	26802											
ACAD9	28976	broad.mit.edu	37	chr3	128627876	128627876	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggccggaggcttcgggaCtccctgggccgaactgtgga	5	8	17	11	3	0	0	0	0	0	0	2	4	1	3	3	6	1	2	3	6	1	2	rs143991763		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128627876C>T	ENST00000308982.7	+	14	1500	c.1419C>T	c.(1417-1419)gaC>gaT	p.D473D	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	473						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						GGCTTCGGGACTCCCTGGGCC	0.587													T	128627876	C	T	128627876	2	4	364	1	0	0	0	0	0	0	0	1	111	564	20	2		2	ACAD9	3	128627876	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	796133	128627876	69394554	3301	26803											
ACAD9	28976	broad.mit.edu	37	chr3	128631414	128631414	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatccttgagaagcgagcCtatatctgtgcccaccctct	9	10	8	14	1	2	2	0	1	2	2	3	4	3	2	4	0	3	0	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128631414C>A	ENST00000308982.7	+	18	1911	c.1830C>A	c.(1828-1830)gcC>gcA	p.A610A	ACAD9_ENST00000511526.1_3'UTR|KIAA1257_ENST00000511438.1_Intron|RP11-723O4.6_ENST00000508239.1_Intron	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	610						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						AGAAGCGAGCCTATATCTGTG	0.552													A	128631414	C	A	128631414	2	1	364	1	0	0	0	0	0	0	0	1	111	668	24	4		4	ACAD9	3	128631414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3538	128631414	69391016	3302	26804											
KIAA1257	57501	broad.mit.edu	37	chr3	128706480	128706480	+	Missense_Mutation	SNP	C	C	T																															tgacttatgaaaagctcccaCgtcgtctgtgaagccggcag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706480C>T	ENST00000265068.5	-	4	813	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.V216M|KIAA1257_ENST00000515659.1_Missense_Mutation_p.V104M	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	216										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						AAAGCTCCCACGTCGTCTGTG	0.433													T	128706480	C	T	128706480	3	4	364	1	0	0	0	0	1	0	0	0	8276	536	19	1	603	1	KIAA1257	3	128706480	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75066	128706480	69315950	3303	26805	54	2									
KIAA1257	57501	broad.mit.edu	37	chr3	128706483	128706483	+	Missense_Mutation	SNP	C	C	T																															cttatgaaaagctcccacgtCgtctgtgaagccggcagtct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128706483C>T	ENST00000265068.5	-	4	810	c.643G>A	c.(643-645)Gac>Aac	p.D215N	KIAA1257_ENST00000510149.1_5'UTR|KIAA1257_ENST00000511438.1_Missense_Mutation_p.D215N|KIAA1257_ENST00000515659.1_Missense_Mutation_p.D103N	NM_020741.2	NP_065792.1	Q9ULG3	K1257_HUMAN	KIAA1257	215										breast(1)|endometrium(2)|large_intestine(3)|lung(6)|skin(2)	14						GCTCCCACGTCGTCTGTGAAG	0.423													T	128706483	C	T	128706483	3	4	364	1	0	0	0	0	1	0	0	0	8276	884	31	1	606	1	KIAA1257	3	128706483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	128706483	69315947	3304	26806	54	2									
GP9	2815	broad.mit.edu	37	chr3	128780695	128780695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggggctgtgggtggactGcaggggccacggactcacgg	6	6	19	10	2	1	0	1	0	0	0	1	2	1	2	1	8	1	2	1	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128780695G>A	ENST00000307395.4	+	3	335	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_000174.3	NP_000165.1	P14770	GPIX_HUMAN	glycoprotein IX (platelet)	38	LRRNT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane	protein binding			NS(1)|central_nervous_system(1)|lung(4)	6					Quinine(DB00468)	TGGGTGGACTGCAGGGGCCAC	0.697													A	128780695	G	A	128780695	3	1	364	1	0	0	0	0	1	0	0	0	6639	1319	46	2	115	2	GP9	3	128780695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74212	128780695	69241735	3305	26807											
CNBP	7555	broad.mit.edu	37	chr3	128889325	128889325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaattgtgcattcccGtgcaaggtgccctgactcgc	7	10	10	14	2	1	1	1	1	0	0	3	1	2	1	3	1	4	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128889325G>A	ENST00000422453.2	-	5	665	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W	CNBP_ENST00000451728.2_Missense_Mutation_p.R170W|CNBP_ENST00000441626.2_Missense_Mutation_p.R171W|CNBP_ENST00000500450.2_Missense_Mutation_p.R152W|CNBP_ENST00000504813.1_Missense_Mutation_p.R159W|CNBP_ENST00000502976.1_Missense_Mutation_p.R162W|CNBP_ENST00000446936.2_Missense_Mutation_p.R164W	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	169					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						GTGCATTCCCGTGCAAGGTGC	0.448													A	128889325	G	A	128889325	3	1	364	1	0	0	0	0	1	0	0	0	3623	1144	40	1	32	1	CNBP	3	128889325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108630	128889325	69133105	3306	26808											
CNBP	7555	broad.mit.edu	37	chr3	128890339	128890339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaccagactcaccacagCgataacaaatgtctggaaga	16	6	9	10	1	2	3	1	1	1	2	2	6	2	4	2	1	2	0	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:128890339C>T	ENST00000422453.2	-	3	327	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CNBP_ENST00000451728.2_Missense_Mutation_p.R56H|CNBP_ENST00000441626.2_Missense_Mutation_p.R56H|CNBP_ENST00000500450.2_Missense_Mutation_p.R39H|CNBP_ENST00000504813.1_Missense_Mutation_p.R46H|CNBP_ENST00000502976.1_Missense_Mutation_p.R49H|CNBP_ENST00000446936.2_Missense_Mutation_p.R49H	NM_001127192.1|NM_001127193.1|NM_003418.4	NP_001120664.1|NP_001120665.1|NP_003409.1	P62633	CNBP_HUMAN	CCHC-type zinc finger, nucleic acid binding protein	56					cholesterol biosynthetic process	endoplasmic reticulum	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			biliary_tract(1)|endometrium(1)|kidney(1)|lung(2)	5						CTCACCACAGCGATAACAAAT	0.423													T	128890339	C	T	128890339	3	4	364	1	0	0	0	0	1	0	0	0	3623	768	27	1	384	1	CNBP	3	128890339	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1014	128890339	69132091	3307	26809											
MBD4	8930	broad.mit.edu	37	chr3	129156736	129156736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattcactgcttctttttatCatcatttgttcctcatcttc	6	21	2	12	0	6	0	4	0	2	0	8	0	7	0	1	0	1	2	1	0	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129156736C>T	ENST00000429544.2	-	2	357	c.162G>A	c.(160-162)atG>atA	p.M54I	MBD4_ENST00000507208.1_Missense_Mutation_p.M54I|MBD4_ENST00000249910.1_Missense_Mutation_p.M54I|MBD4_ENST00000509587.1_5'UTR|MBD4_ENST00000393278.2_Missense_Mutation_p.M54I|MBD4_ENST00000503197.1_Missense_Mutation_p.M54I	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	54					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						TTCTTTTTATCATCATTTGTT	0.383								Base excision repair (BER), DNA glycosylases					T	129156736	C	T	129156736	3	4	364	1	0	0	0	0	1	0	0	0	9421	826	29	2	1608	2	MBD4	3	129156736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266397	129156736	68865694	3308	26810											
IFT122	55764	broad.mit.edu	37	chr3	129196977	129196977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggacttatcagacatGcattaccgggtaaaggagaa	15	8	11	7	1	2	3	2	0	0	3	2	5	2	4	1	3	2	2	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129196977G>A	ENST00000296266.3	+	13	1611	c.1419G>A	c.(1417-1419)atG>atA	p.M473I	IFT122_ENST00000431818.2_Missense_Mutation_p.M272I|IFT122_ENST00000507564.1_Missense_Mutation_p.M414I|IFT122_ENST00000504021.1_Missense_Mutation_p.M316I|IFT122_ENST00000348417.2_Missense_Mutation_p.M422I|IFT122_ENST00000349441.2_Missense_Mutation_p.M311I|IFT122_ENST00000347300.2_Missense_Mutation_p.M363I|IFT122_ENST00000440957.2_Missense_Mutation_p.M213I	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	422					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TATCAGACATGCATTACCGGG	0.453													A	129196977	G	A	129196977	3	1	364	1	0	0	0	0	1	0	0	0	7613	1319	46	2	1469	2	IFT122	3	129196977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40241	129196977	68825453	3309	26811											
IFT122	55764	broad.mit.edu	37	chr3	129207235	129207235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttagattttgaaacagcaAagaaggtaagcatctagcca	16	10	9	6	0	1	3	0	1	1	2	1	3	1	3	1	1	4	4	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129207235A>G	ENST00000296266.3	+	17	2332	c.2140A>G	c.(2140-2142)Aag>Gag	p.K714E	IFT122_ENST00000431818.2_Missense_Mutation_p.K513E|IFT122_ENST00000507564.1_Missense_Mutation_p.K655E|IFT122_ENST00000504021.1_Missense_Mutation_p.K557E|IFT122_ENST00000348417.2_Missense_Mutation_p.K663E|IFT122_ENST00000349441.2_Missense_Mutation_p.K552E|IFT122_ENST00000347300.2_Missense_Mutation_p.K604E|IFT122_ENST00000440957.2_Missense_Mutation_p.K454E	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	663					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						TGAAACAGCAAAGAAGGTAAG	0.522													G	129207235	A	G	129207235	3	3	364	1	0	0	0	0	1	0	0	0	7613	15	1	3	2206	3	IFT122	3	129207235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10258	129207235	68815195	3310	26812											
RHO	6010	broad.mit.edu	37	chr3	129252543	129252543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtccaagacggagacgagCcaggtggccccggcctaaga	10	4	15	12	3	0	3	0	0	0	3	1	5	1	3	5	4	1	0	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129252543C>T	ENST00000296271.3	+	5	1123	c.1029C>T	c.(1027-1029)agC>agT	p.S343S		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	343					protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CGGAGACGAGCCAGGTGGCCC	0.627													T	129252543	C	T	129252543	2	4	364	1	0	0	0	0	0	0	0	1	13419	738	26	2		2	RHO	3	129252543	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45308	129252543	68769887	3311	26813											
PLXND1	23129	broad.mit.edu	37	chr3	129275975	129275975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctcgctgagcggcGtcatgtcctggatctgcttg	3	14	12	12	3	3	1	1	1	2	0	6	2	4	2	1	2	3	3	1	2	0	2	rs141415531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129275975G>A	ENST00000324093.4	-	34	5715	c.5537C>T	c.(5536-5538)aCg>aTg	p.T1846M	PLXND1_ENST00000393239.1_3'UTR|PLXND1_ENST00000504689.1_Missense_Mutation_p.T2M	NM_015103.2	NP_055918	Q9Y4D7	PLXD1_HUMAN	plexin D1	1846					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						GCTGAGCGGCGTCATGTCCTG	0.617													A	129275975	G	A	129275975	3	1	364	1	0	0	0	0	1	0	0	0	12204	1145	40	1	252	1	PLXND1	3	129275975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23432	129275975	68746455	3312	26814											
PLXND1	23129	broad.mit.edu	37	chr3	129289894	129289894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcacgtggataacgaGggtgagaggctccccggggt	7	7	18	9	3	1	1	1	1	0	1	2	4	2	2	2	6	2	2	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129289894G>T	ENST00000393239.1	-	18	3767	c.3589C>A	c.(3589-3591)Ctc>Atc	p.L1197I	PLXND1_ENST00000324093.4_Missense_Mutation_p.L1197I			Q9Y4D7	PLXD1_HUMAN	plexin D1	1197					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TGGATAACGAGGGTGAGAGGC	0.662													T	129289894	G	T	129289894	3	4	364	1	0	0	0	0	1	0	0	0	12204	1000	35	4	2264	4	PLXND1	3	129289894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13919	129289894	68732536	3313	26815											
PLXND1	23129	broad.mit.edu	37	chr3	129324846	129324846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctgccgtaaccggtgtAcgtggcgcccacgagcaggc	7	5	16	13	5	0	0	0	0	0	0	0	2	0	1	3	4	5	4	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129324846A>G	ENST00000393239.1	-	1	815	c.637T>C	c.(637-639)Tac>Cac	p.Y213H	PLXND1_ENST00000324093.4_Missense_Mutation_p.Y213H			Q9Y4D7	PLXD1_HUMAN	plexin D1	213	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						TAACCGGTGTACGTGGCGCCC	0.716													G	129324846	A	G	129324846	3	3	364	1	0	0	0	0	1	0	0	0	12204	391	14	3	5284	3	PLXND1	3	129324846	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34952	129324846	68697584	3314	26816											
TMCC1	23023	broad.mit.edu	37	chr3	129389445	129389445	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactaccatattttgggctAgactgaaagtttgaaatcac	13	13	7	8	0	2	3	2	2	0	1	2	3	2	3	1	1	1	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389445A>G	ENST00000393238.3	-	4	1579	c.1239T>C	c.(1237-1239)tcT>tcC	p.S413S	TMCC1_ENST00000426664.2_Silent_p.S299S|TMCC1_ENST00000329333.5_Silent_p.S234S|TMCC1_ENST00000432054.2_Silent_p.S89S	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	413						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						ATTTTGGGCTAGACTGAAAGT	0.512													G	129389445	A	G	129389445	2	3	364	1	0	0	0	0	0	0	0	1	16092	407	15	3		3	TMCC1	3	129389445	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	64599	129389445	68632985	3315	26817											
TMCC1	23023	broad.mit.edu	37	chr3	129389913	129389913	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagtattcagcaacgttGtcgtcccgggctgtttgtgc	6	14	11	10	3	2	0	2	0	0	0	4	0	3	0	1	1	3	5	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:129389913G>A	ENST00000393238.3	-	4	1111	c.771C>T	c.(769-771)gaC>gaT	p.D257D	TMCC1_ENST00000426664.2_Silent_p.D143D|TMCC1_ENST00000329333.5_Silent_p.D78D|TMCC1_ENST00000432054.2_5'UTR	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	257						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CAGCAACGTTGTCGTCCCGGG	0.507													A	129389913	G	A	129389913	2	1	364	1	0	0	0	0	0	0	0	1	16092	1368	48	2		2	TMCC1	3	129389913	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	468	129389913	68632517	3316	26818											
COL6A5	256076	broad.mit.edu	37	chr3	130159148	130159148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccttggtgagctcagTgattgacaacttcaacattg	12	11	10	8	0	2	3	2	3	0	0	2	4	2	3	1	1	4	1	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130159148T>C	ENST00000265379.6	+	35	6460	c.5966T>C	c.(5965-5967)gTg>gCg	p.V1989A	COL6A5_ENST00000432398.2_Missense_Mutation_p.V1989A			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	1989	Nonhelical region.|VWFA 9.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAGCTCAGTGATTGACAAC	0.413													C	130159148	T	C	130159148	3	2	364	1	0	0	0	0	1	0	0	0	3733	1696	59	3	6100	3	COL6A5	3	130159148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	769235	130159148	67863282	3317	26819											
COL6A6	131873	broad.mit.edu	37	chr3	130285612	130285612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggagcacccaggccaCagatttccatgaaatgaaga	14	6	10	11	0	1	4	1	2	0	2	2	5	2	5	3	2	1	1	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130285612C>T	ENST00000358511.6	+	4	1380	c.1349C>T	c.(1348-1350)aCa>aTa	p.T450I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T450I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	450	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						ACCCAGGCCACAGATTTCCAT	0.493													T	130285612	C	T	130285612	3	4	364	1	0	0	0	0	1	0	0	0	3734	478	17	2	1363	2	COL6A6	3	130285612	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126464	130285612	67736818	3318	26820											
COL6A6	131873	broad.mit.edu	37	chr3	130300717	130300717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggattctctatgggataCatttcagaataaatcagctg	12	14	8	7	0	3	1	2	0	1	1	4	3	3	3	0	2	2	1	0	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130300717C>T	ENST00000358511.6	+	8	3891	c.3860C>T	c.(3859-3861)aCa>aTa	p.T1287I	COL6A6_ENST00000453409.2_Missense_Mutation_p.T1287I	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1287	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTATGGGATACATTTCAGAAT	0.333													T	130300717	C	T	130300717	3	4	364	1	0	0	0	0	1	0	0	0	3734	478	17	2	3890	2	COL6A6	3	130300717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15105	130300717	67721713	3319	26821											
PIK3R4	30849	broad.mit.edu	37	chr3	130405075	130405075	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcagagccagcattggTggatgtccacagcaaaggaa	14	6	12	9	0	0	1	0	0	0	1	1	3	1	3	2	3	4	3	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130405075T>C	ENST00000356763.3	-	15	4012	c.3455A>G	c.(3454-3456)cAc>cGc	p.H1152R	PIK3R4_ENST00000512677.1_5'UTR	NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	1152					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCAGCATTGGTGGATGTCCAC	0.458													C	130405075	T	C	130405075	3	2	364	1	0	0	0	0	1	0	0	0	11998	1696	59	3	645	3	PIK3R4	3	130405075	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	104358	130405075	67617355	3320	26822											
PIK3R4	30849	broad.mit.edu	37	chr3	130452730	130452730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agataaccagcccattttccTtaggctctccttcggctttt	7	15	6	13	1	1	1	0	0	1	1	4	1	2	1	4	2	2	2	4	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130452730T>C	ENST00000356763.3	-	4	1669	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	371					fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						CCCATTTTCCTTAGGCTCTCC	0.423													C	130452730	T	C	130452730	3	2	364	1	0	0	0	0	1	0	0	0	11998	1609	56	3	3032	3	PIK3R4	3	130452730	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47655	130452730	67569700	3321	26823											
ATP2C1	27032	broad.mit.edu	37	chr3	130714955	130714955	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttagattccagctgagcaCgtaagtttgcaagaaatttg	12	12	10	7	2	0	3	0	1	0	2	1	3	1	3	1	0	3	6	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130714955C>T	ENST00000510168.1	+	23	2676	c.2126C>T	c.(2125-2127)aCg>aTg	p.T709M	ATP2C1_ENST00000513801.1_Splice_Site_p.T693M|ATP2C1_ENST00000393221.4_Splice_Site_p.T743M|ATP2C1_ENST00000504381.1_Splice_Site_p.T654M|ATP2C1_ENST00000428331.2_Splice_Site_p.T709M|ATP2C1_ENST00000504948.1_Splice_Site_p.T693M|ATP2C1_ENST00000505330.1_Splice_Site_p.T693M|ATP2C1_ENST00000359644.3_Splice_Site_p.T709M|ATP2C1_ENST00000508532.1_Splice_Site_p.T709M|ATP2C1_ENST00000328560.8_Splice_Site_p.T709M|ATP2C1_ENST00000533801.2_Splice_Site_p.T704M|ATP2C1_ENST00000507488.2_Splice_Site_p.T693M|ATP2C1_ENST00000422190.2_Splice_Site_p.T709M			P98194	AT2C1_HUMAN	ATPase, Ca++ transporting, type 2C, member 1	709			T -> M (in HHD).		actin cytoskeleton reorganization|ATP biosynthetic process|calcium-dependent cell-cell adhesion|cellular calcium ion homeostasis|cellular manganese ion homeostasis|epidermis development|Golgi calcium ion homeostasis|Golgi calcium ion transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi apparatus|Golgi membrane|integral to membrane|trans-Golgi network	ATP binding|calcium ion binding|calcium-transporting ATPase activity|manganese ion binding|manganese-transporting ATPase activity|metal ion binding|signal transducer activity			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|prostate(2)|skin(2)|urinary_tract(1)	39					Arsenic trioxide(DB01169)|Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Miconazole(DB01110)|Sevoflurane(DB01236)	CAGCTGAGCACGTAAGTTTGC	0.328									Hailey-Hailey disease				T	130714955	C	T	130714955	5	4	364	1	0	0	0	0	0	0	1	0	1148	550	19	1	2212	1	ATP2C1	3	130714955	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262225	130714955	67307475	3322	26824											
ASTE1	28990	broad.mit.edu	37	chr3	130733175	130733175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaggagactttctacaGaggtcgatgctagcagttgc	9	11	12	9	1	2	2	1	0	1	2	3	4	2	2	0	2	5	4	0	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:130733175G>T	ENST00000264992.3	-	6	2207	c.1766C>A	c.(1765-1767)tCt>tAt	p.S589Y	ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000533801.2_Intron|ASTE1_ENST00000514044.1_Missense_Mutation_p.S614Y|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	589					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACTTTCTACAGAGGTCGATGC	0.428													T	130733175	G	T	130733175	3	4	364	1	0	0	0	0	1	0	0	0	1067	942	33	4	277	4	ASTE1	3	130733175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18220	130733175	67289255	3323	26825											
DNAJC13	23317	broad.mit.edu	37	chr3	132169630	132169630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatagaaatattgaaggatTtgtagatctctcagattatc	14	15	7	5	0	2	4	1	1	1	3	4	5	2	5	0	1	0	1	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132169630T>C	ENST00000260818.6	+	6	724	c.476T>C	c.(475-477)tTt>tCt	p.F159S	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	159							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						ATTGAAGGATTTGTAGATCTC	0.323													C	132169630	T	C	132169630	3	2	364	1	0	0	0	0	1	0	0	0	4671	1841	64	3	494	3	DNAJC13	3	132169630	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1436455	132169630	65852800	3324	26826											
DNAJC13	23317	broad.mit.edu	37	chr3	132218639	132218639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctagtaaaccaagtgAcatgtcagtacaggtgaggc	12	9	12	8	1	1	2	1	2	0	0	2	2	1	2	1	2	3	3	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132218639A>G	ENST00000260818.6	+	38	4651	c.4403A>G	c.(4402-4404)gAc>gGc	p.D1468G		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1468							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						AAACCAAGTGACATGTCAGTA	0.433													G	132218639	A	G	132218639	3	3	364	1	0	0	0	0	1	0	0	0	4671	275	10	3	4549	3	DNAJC13	3	132218639	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49009	132218639	65803791	3325	26827											
ACAD11	84129	broad.mit.edu	37	chr3	132278741	132278741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctggatggcccagtcaaCgattttgctgacagcccgtg	8	9	11	13	2	1	1	1	1	0	0	1	3	1	2	3	2	3	1	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132278741C>T	ENST00000264990.6	-	19	3135	c.2164G>A	c.(2164-2166)Gtt>Att	p.V722I	ACAD11_ENST00000355458.3_Missense_Mutation_p.V618I|ACAD11_ENST00000545291.1_Missense_Mutation_p.V247I	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCCCAGTCAACGATTTTGCTG	0.438													T	132278741	C	T	132278741	3	4	364	1	0	0	0	0	1	0	0	0	109	536	19	1	186	1	ACAD11	3	132278741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60102	132278741	65743689	3326	26828											
ACAD11	84129	broad.mit.edu	37	chr3	132361638	132361638	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctggactttaaattcTctatcaatctaaataggatg	12	16	6	7	0	4	0	1	0	3	0	5	2	4	2	0	2	0	1	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132361638T>G	ENST00000264990.6	-	3	1229	c.258A>C	c.(256-258)agA>agC	p.R86S	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000355458.3_Missense_Mutation_p.R86S|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.R86S	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						CTTTAAATTCTCTATCAATCT	0.318													G	132361638	T	G	132361638	3	3	364	1	0	0	0	0	1	0	0	0	109	1548	54	5	2156	5	ACAD11	3	132361638	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82897	132361638	65660792	3327	26829											
NPHP3	27031	broad.mit.edu	37	chr3	132408040	132408040	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatgaatcgaagtattCtgttgccattgcacttttgt	9	17	7	8	1	2	1	1	1	1	0	3	2	2	1	1	0	2	3	1	0	4	7	rs150941925		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:132408040C>A	ENST00000337331.5	-	20	2847	c.2761G>T	c.(2761-2763)Gaa>Taa	p.E921*	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	921					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCGAAGTATTCTGTTGCCATT	0.398													A	132408040	C	A	132408040	4	1	364	1	0	0	0	0	0	1	0	0	10656	922	32	4	1263	4	NPHP3	3	132408040	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46402	132408040	65614390	3328	26830											
BFSP2	8419	broad.mit.edu	37	chr3	133118940	133118940	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtgatgagtgagaggCgagtggtagtggacttgccc	9	8	19	5	1	0	3	0	3	0	1	0	6	0	4	1	5	1	1	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133118940C>T	ENST00000302334.2	+	1	102	c.13C>T	c.(13-15)Cga>Tga	p.R5*		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	5	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						GAGTGAGAGGCGAGTGGTAGT	0.622													T	133118940	C	T	133118940	4	4	364	1	0	0	0	0	0	1	0	0	1422	760	27	1	15	1	BFSP2	3	133118940	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	710900	133118940	64903490	3329	26831											
CDV3	55573	broad.mit.edu	37	chr3	133306798	133306798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaaaatagaggtagggatGaggtttcaaaaaaccaggcc	18	6	11	6	0	1	2	1	1	0	1	1	3	1	3	2	4	1	2	2	4	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133306798G>A	ENST00000264993.3	+	5	1000	c.685G>A	c.(685-687)Gag>Aag	p.E229K	CDV3_ENST00000420115.2_3'UTR|CDV3_ENST00000508481.1_Missense_Mutation_p.E127K|CDV3_ENST00000515421.1_Intron	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	229					cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						AGGTAGGGATGAGGTTTCAAA	0.368													A	133306798	G	A	133306798	3	1	364	1	0	0	0	0	1	0	0	0	3211	1291	45	2	723	2	CDV3	3	133306798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187858	133306798	64715632	3330	26832											
TOPBP1	11073	broad.mit.edu	37	chr3	133329880	133329880	+	Frame_Shift_Del	DEL	T	T	-																															agattcttgtctttgctggaTtttttttctccatctcattg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133329880delT	ENST00000260810.5	-	25	4272	c.4141delA	c.(4141-4143)atcfs	p.I1381fs		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	1381					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						CTTTGCTGGATTTTTTTTCTC	0.343								Other conserved DNA damage response genes					-	133329880	T	-	133329880	7	5	364	1	0	1	0	1	0	0	0	0	16470	1493	52	0	443	0	TOPBP1	3	133329880	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	23082	133329880	64692550	3331	26833											
TOPBP1	11073	broad.mit.edu	37	chr3	133358811	133358811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagtattaaccttctttaGttgaattttcaatcagaaaa	17	15	4	5	0	3	2	2	1	1	1	3	2	3	2	1	0	1	2	1	0	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133358811G>A	ENST00000260810.5	-	13	2356	c.2225C>T	c.(2224-2226)aCt>aTt	p.T742I		NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	742					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						ACCTTCTTTAGTTGAATTTTC	0.363								Other conserved DNA damage response genes					A	133358811	G	A	133358811	3	1	364	1	0	0	0	0	1	0	0	0	16470	1029	36	2	2407	2	TOPBP1	3	133358811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28931	133358811	64663619	3332	26834											
TOPBP1	11073	broad.mit.edu	37	chr3	133362997	133362997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttcttttatgatgtttGcgatgttagattcattttca	8	22	6	5	1	3	2	2	1	1	1	3	3	3	2	0	0	1	2	0	0	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133362997G>A	ENST00000260810.5	-	11	1846	c.1715C>T	c.(1714-1716)gCa>gTa	p.A572V	TOPBP1_ENST00000511439.1_5'UTR	NM_007027.3	NP_008958.2	Q92547	TOPB1_HUMAN	topoisomerase (DNA) II binding protein 1	572	BRCT 4.				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						TATGATGTTTGCGATGTTAGA	0.403								Other conserved DNA damage response genes					A	133362997	G	A	133362997	3	1	364	1	0	0	0	0	1	0	0	0	16470	1319	46	2	2925	2	TOPBP1	3	133362997	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4186	133362997	64659433	3333	26835											
TF	7018	broad.mit.edu	37	chr3	133467331	133467331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggccactaagtgccagaGtttccgcgaccatatgaaaa	13	8	10	10	2	0	3	0	2	0	1	1	4	1	3	4	1	1	1	4	1	4	3	rs146477698		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133467331G>A	ENST00000402696.3	+	2	604	c.119G>A	c.(118-120)aGt>aAt	p.S40N	TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR|TF_ENST00000264998.3_Intron	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	40	Transferrin-like 1.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	AAGTGCCAGAGTTTCCGCGAC	0.542													A	133467331	G	A	133467331	3	1	364	1	0	0	0	0	1	0	0	0	15885	1029	36	2	125	2	TF	3	133467331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104334	133467331	64555099	3334	26836											
TF	7018	broad.mit.edu	37	chr3	133486900	133486900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtgaaggttgtgcccCtgggtctaagaaagactcca	10	11	11	9	0	2	3	1	1	1	2	3	3	3	3	3	2	1	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133486900C>A	ENST00000402696.3	+	13	1999	c.1514C>A	c.(1513-1515)cCt>cAt	p.P505H	TF_ENST00000264998.3_Missense_Mutation_p.P378H	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	505	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	GGTTGTGCCCCTGGGTCTAAG	0.463													A	133486900	C	A	133486900	3	1	364	1	0	0	0	0	1	0	0	0	15885	681	24	4	1564	4	TF	3	133486900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19569	133486900	64535530	3335	26837											
SLCO2A1	6578	broad.mit.edu	37	chr3	133653645	133653645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagcagcatgcccagcGccttgtagcccatctgcagg	10	6	11	14	1	1	0	0	0	1	0	1	0	1	0	3	1	7	5	3	1	2	2	rs148426132		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133653645G>A	ENST00000310926.4	-	14	2117	c.1844C>T	c.(1843-1845)gCg>gTg	p.A615V	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A539V	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	615					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CATGCCCAGCGCCTTGTAGCC	0.632													A	133653645	G	A	133653645	3	1	364	1	0	0	0	0	1	0	0	0	14820	1087	38	1	91	1	SLCO2A1	3	133653645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	166745	133653645	64368785	3336	26838											
RYK	6259	broad.mit.edu	37	chr3	133896788	133896788	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaaatttttctcacctgTggattattggcctctactaa	9	15	8	9	0	2	0	1	0	2	0	3	1	2	1	2	3	1	1	2	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:133896788T>C	ENST00000427044.2	-	12	1345	c.735A>G	c.(733-735)ccA>ccG	p.P245P	RYK_ENST00000296084.4_Silent_p.P435P			P34925	RYK_HUMAN	receptor-like tyrosine kinase	431					corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						TTCTCACCTGTGGATTATTGG	0.328													C	133896788	T	C	133896788	2	2	364	1	0	0	0	0	0	0	0	1	13858	1683	59	3		3	RYK	3	133896788	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	243143	133896788	64125642	3337	26839											
AMOTL2	51421	broad.mit.edu	37	chr3	134085261	134085261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagagagccgctggatttcGctttccagctgcaagagtca	9	10	11	11	2	2	2	2	0	0	2	4	4	3	3	2	1	3	4	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134085261G>A	ENST00000514516.1	-	4	1402	c.1224C>T	c.(1222-1224)agC>agT	p.S408S	AMOTL2_ENST00000513145.1_Silent_p.S350S|AMOTL2_ENST00000422605.2_Silent_p.S350S|AMOTL2_ENST00000249883.5_Silent_p.S350S	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	350										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GCTGGATTTCGCTTTCCAGCT	0.562													A	134085261	G	A	134085261	2	1	364	1	0	0	0	0	0	0	0	1	584	1078	38	1		1	AMOTL2	3	134085261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188473	134085261	63937169	3338	26840											
CEP63	80254	broad.mit.edu	37	chr3	134277156	134277156	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatctttaaaccaacacacaGcagaacaactgagttcaaga	18	7	6	10	0	2	3	1	1	1	2	2	4	2	3	1	0	5	2	1	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134277156G>T	ENST00000337090.3	+	13	1813	c.1640G>T	c.(1639-1641)aGc>aTc	p.S547I	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S547I|CEP63_ENST00000606977.1_Missense_Mutation_p.S547I			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	547					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CCAACACACAGCAGAACAACT	0.299													T	134277156	G	T	134277156	3	4	364	1	0	0	0	0	1	0	0	0	3287	971	34	4	1686	4	CEP63	3	134277156	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191895	134277156	63745274	3339	26841											
CEP63	80254	broad.mit.edu	37	chr3	134278117	134278117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtgctaagccccctgaGtcctcaaatcagcccttgca	9	9	9	14	0	2	1	2	1	0	0	3	1	3	1	4	1	4	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134278117G>A	ENST00000337090.3	+	14	1972	c.1799G>A	c.(1798-1800)aGt>aAt	p.S600N	CEP63_ENST00000354446.3_Intron|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000332047.5_Intron|CEP63_ENST00000513612.2_Missense_Mutation_p.S600N|CEP63_ENST00000606977.1_Missense_Mutation_p.S600N			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	600					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						AGCCCCCTGAGTCCTCAAATC	0.453													A	134278117	G	A	134278117	3	1	364	1	0	0	0	0	1	0	0	0	3287	1029	36	2	1849	2	CEP63	3	134278117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	961	134278117	63744313	3340	26842											
EPHB1	2047	broad.mit.edu	37	chr3	134881021	134881021	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttccagactctgactgaCggtaagggtcggggagggca	8	8	16	9	2	1	3	0	2	1	1	3	4	2	4	1	5	1	3	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:134881021C>T	ENST00000398015.3	+	7	1954	c.1584C>T	c.(1582-1584)gaC>gaT	p.D528D	EPHB1_ENST00000493838.1_Splice_Site_p.D89D	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	528						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CTCTGACTGACGGTAAGGGTC	0.562													T	134881021	C	T	134881021	5	4	364	1	0	0	0	0	0	0	1	0	5215	550	19	1	1610	1	EPHB1	3	134881021	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	602904	134881021	63141409	3341	26843											
PPP2R3A	5523	broad.mit.edu	37	chr3	135806764	135806764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaggatattctctggtgCagtaacaaggtaagaaaacg	16	9	11	5	1	1	2	0	1	1	1	2	3	1	3	0	3	3	3	0	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135806764C>T	ENST00000264977.3	+	9	3445	c.2828C>T	c.(2827-2829)gCa>gTa	p.A943V	PPP2R3A_ENST00000334546.2_Missense_Mutation_p.A322V|PPP2R3A_ENST00000490467.1_Missense_Mutation_p.A207V	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	943					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TTCTCTGGTGCAGTAACAAGG	0.318													T	135806764	C	T	135806764	3	4	364	1	0	0	0	0	1	0	0	0	12470	710	25	2	2994	2	PPP2R3A	3	135806764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	925743	135806764	62215666	3342	26844											
MSL2	55167	broad.mit.edu	37	chr3	135870463	135870463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctggcttggttttagaGtgagatttcttggatccatg	8	16	11	6	0	1	2	0	1	1	2	2	4	2	3	2	3	1	2	2	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135870463G>T	ENST00000309993.2	-	2	1992	c.1260C>A	c.(1258-1260)caC>caA	p.H420Q	MSL2_ENST00000434835.2_Missense_Mutation_p.H346Q	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	420	Lys-rich.				histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TGGTTTTAGAGTGAGATTTCT	0.373													T	135870463	G	T	135870463	3	4	364	1	0	0	0	0	1	0	0	0	9954	1020	36	4	477	4	MSL2	3	135870463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63699	135870463	62151967	3343	26845											
MSL2	55167	broad.mit.edu	37	chr3	135871112	135871112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatatttataccaaatCtatctattgaaagcccatta	17	13	4	7	0	2	1	0	1	2	0	2	2	2	2	2	1	2	0	2	1	10	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:135871112C>A	ENST00000309993.2	-	2	1343	c.611G>T	c.(610-612)aGa>aTa	p.R204I	MSL2_ENST00000434835.2_Missense_Mutation_p.R130I	NM_018133.3	NP_060603.2	Q9HCI7	MSL2_HUMAN	male-specific lethal 2 homolog (Drosophila)	204					histone H4-K16 acetylation	MSL complex	zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	18						TATACCAAATCTATCTATTGA	0.388													A	135871112	C	A	135871112	3	1	364	1	0	0	0	0	1	0	0	0	9954	913	32	4	1126	4	MSL2	3	135871112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	649	135871112	62151318	3344	26846											
PCCB	5096	broad.mit.edu	37	chr3	136045702	136045702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtcagattctgtgatgCattcaatattccactcatca	10	17	5	9	0	5	2	4	1	1	1	6	2	6	2	1	0	1	1	1	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136045702C>T	ENST00000471595.1	+	11	1166	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000251654.4_Missense_Mutation_p.A383V|PCCB_ENST00000462637.1_Missense_Mutation_p.A360V|PCCB_ENST00000482086.1_Missense_Mutation_p.A267V|PCCB_ENST00000469217.1_Missense_Mutation_p.A403V|PCCB_ENST00000483687.1_Missense_Mutation_p.A364V|PCCB_ENST00000490504.1_Missense_Mutation_p.A326V|PCCB_ENST00000466072.1_Missense_Mutation_p.A403V|PCCB_ENST00000468777.1_Missense_Mutation_p.A414V			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	383	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTCTGTGATGCATTCAATATT	0.428													T	136045702	C	T	136045702	3	4	364	1	0	0	0	0	1	0	0	0	11581	710	25	2	1254	2	PCCB	3	136045702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174590	136045702	61976728	3345	26847											
PCCB	5096	broad.mit.edu	37	chr3	136048855	136048855	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttggagaaaacatgcaaAtattccattgtaaacaaatc	17	11	5	8	0	0	1	0	0	0	1	3	2	2	1	2	1	3	2	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136048855A>C	ENST00000468777.1	+	16	1721	c.1700A>C	c.(1699-1701)aAt>aCt	p.N567T	PCCB_ENST00000478469.1_Intron|PCCB_ENST00000251654.4_Missense_Mutation_p.N536T|PCCB_ENST00000462637.1_Missense_Mutation_p.N513T|PCCB_ENST00000482086.1_Missense_Mutation_p.N420T|PCCB_ENST00000471595.1_Intron|PCCB_ENST00000469217.1_Missense_Mutation_p.N556T|PCCB_ENST00000483687.1_Missense_Mutation_p.N517T|PCCB_ENST00000490504.1_Missense_Mutation_p.N479T|PCCB_ENST00000466072.1_Missense_Mutation_p.N556T			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	536					fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	AAACATGCAAATATTCCATTG	0.443													C	136048855	A	C	136048855	3	2	364	1	0	0	0	0	1	0	0	0	11581	101	4	5	1729	5	PCCB	3	136048855	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3153	136048855	61973575	3346	26848											
STAG1	10274	broad.mit.edu	37	chr3	136076622	136076622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttagtacttcaagaaaaGccagattaggaggtggatac	15	9	10	7	0	1	2	1	0	0	2	1	4	1	4	1	3	3	1	1	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136076622G>A	ENST00000383202.2	-	28	3261	c.3005C>T	c.(3004-3006)gCt>gTt	p.A1002V	STAG1_ENST00000434713.2_Missense_Mutation_p.A742V|STAG1_ENST00000536929.1_Missense_Mutation_p.A586V|STAG1_ENST00000236698.5_Missense_Mutation_p.A1002V	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	1002					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TTCAAGAAAAGCCAGATTAGG	0.323													A	136076622	G	A	136076622	3	1	364	1	0	0	0	0	1	0	0	0	15338	971	34	2	799	2	STAG1	3	136076622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27767	136076622	61945808	3347	26849											
STAG1	10274	broad.mit.edu	37	chr3	136260977	136260977	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctcatcaaattcttcaGtcatttttctgatgatttct	10	19	3	9	0	7	2	4	2	3	0	7	2	7	2	1	0	1	0	1	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136260977G>T	ENST00000434713.2	-	0	951				STAG1_ENST00000480733.1_Missense_Mutation_p.T152N|STAG1_ENST00000383202.2_Missense_Mutation_p.T152N|STAG1_ENST00000236698.5_Missense_Mutation_p.T152N			Q8WVM7	STAG1_HUMAN	stromal antigen 1						cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						AAATTCTTCAGTCATTTTTCT	0.299													T	136260977	G	T	136260977	1	4	364	1	0	0	0	0	0	0	0	0	15338	1029	36	4		4	STAG1	3	136260977	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184355	136260977	61761453	3348	26850											
NCK1	4690	broad.mit.edu	37	chr3	136665137	136665137	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcgtgatagtgaatcttcGgtaagttgattttcggaggt	9	16	12	4	3	1	3	0	3	1	0	4	4	1	4	0	3	0	2	0	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136665137G>A	ENST00000469404.1	+	2	838	c.747G>A	c.(745-747)tcG>tcA	p.S249S	IL20RB_ENST00000484501.1_3'UTR|NCK1_ENST00000481752.1_Splice_Site_p.S313S|NCK1_ENST00000288986.2_Splice_Site_p.S313S	NM_001190796.1	NP_001177725.1	P16333	NCK1_HUMAN	NCK adaptor protein 1	313	SH3 3.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGAATCTTCGGTAAGTTGAT	0.388													A	136665137	G	A	136665137	5	1	364	1	0	0	0	0	0	0	1	0	10295	1130	39	1	945	1	NCK1	3	136665137	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404160	136665137	61357293	3349	26851											
IL20RB	53833	broad.mit.edu	37	chr3	136699435	136699435	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tattctgtcgaataccagggGtgagttttttcttttaatag	9	18	9	5	1	2	1	0	1	2	0	3	2	2	1	1	2	1	1	1	2	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:136699435G>T	ENST00000329582.4	+	2	464		c.e2+1		IL20RB_ENST00000484501.1_Intron|IL20RB_ENST00000309741.5_Splice_Site|IL20RB-AS1_ENST00000462176.2_RNA	NM_144717.3	NP_653318.2	Q6UXL0	I20RB_HUMAN	interleukin 20 receptor beta							integral to membrane	receptor activity			kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14						AATACCAGGGGTGAGTTTTTT	0.478													T	136699435	G	T	136699435	5	4	364	1	0	0	0	0	0	0	1	0	7727	1275	44	4	222	4	IL20RB	3	136699435	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34298	136699435	61322995	3350	26852											
DZIP1L	199221	broad.mit.edu	37	chr3	137790485	137790485	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctctccccagtgtacCtgaaggctgcccgtctggct	6	9	10	16	1	2	1	0	1	2	0	3	1	2	1	5	2	3	3	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137790485C>A	ENST00000327532.2	-	12	1977	c.1615G>T	c.(1615-1617)Gtc>Ttc	p.V539F	DZIP1L_ENST00000488595.1_Intron|DZIP1L_ENST00000469243.1_Splice_Site_p.G539C	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	539						intracellular	zinc ion binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CCCAGTGTACCTGAAGGCTGC	0.562													A	137790485	C	A	137790485	5	1	364	1	0	0	0	0	0	0	1	0	4903	695	24	4	717	4	DZIP1L	3	137790485	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091050	137790485	60231945	3351	26853											
DZIP1L	199221	broad.mit.edu	37	chr3	137813726	137813726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgccgctgcctctccGcctccctctgggcttccagc	2	9	11	19	2	2	0	0	0	2	0	5	1	4	1	6	2	4	3	6	2	0	1	rs148594666	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137813726G>A	ENST00000327532.2	-	4	1048	c.686C>T	c.(685-687)gCg>gTg	p.A229V	DZIP1L_ENST00000469243.1_Missense_Mutation_p.A229V	NM_173543.2	NP_775814.2	Q8IYY4	DZI1L_HUMAN	DAZ interacting zinc finger protein 1-like	229						intracellular	zinc ion binding	p.A229V(1)		breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(2)|prostate(1)|skin(1)	35						CTGCCTCTCCGCCTCCCTCTG	0.567													A	137813726	G	A	137813726	3	1	364	1	0	0	0	0	1	0	0	0	4903	1087	38	1	1678	1	DZIP1L	3	137813726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23241	137813726	60208704	3352	26854											
DBR1	51163	broad.mit.edu	37	chr3	137881272	137881272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaattcagttgtctgaGgattgatcctatgaatcagc	13	12	8	8	0	3	3	2	3	1	0	4	4	4	4	1	1	1	1	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137881272G>T	ENST00000260803.4	-	8	1247	c.1094C>A	c.(1093-1095)cCt>cAt	p.P365H	DBR1_ENST00000505015.2_Missense_Mutation_p.P131H	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	365						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AGTTGTCTGAGGATTGATCCT	0.403													T	137881272	G	T	137881272	3	4	364	1	0	0	0	0	1	0	0	0	4291	1000	35	4	544	4	DBR1	3	137881272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67546	137881272	60141158	3353	26855											
DBR1	51163	broad.mit.edu	37	chr3	137890476	137890476	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataattctcaaaacaataccTtttcgatagtcatgagattt	15	15	4	7	1	2	1	2	1	1	1	4	3	2	1	1	0	2	0	1	0	6	7	rs34737927		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137890476T>G	ENST00000260803.4	-	3	555	c.402A>C	c.(400-402)aaA>aaC	p.K134N	DBR1_ENST00000505015.2_5'UTR|DBR1_ENST00000463982.2_5'UTR	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	134						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						AAACAATACCTTTTCGATAGT	0.338													G	137890476	T	G	137890476	5	3	364	1	0	0	0	0	0	0	1	0	4291	1623	56	5	1256	5	DBR1	3	137890476	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9204	137890476	60131954	3354	26856											
ARMC8	25852	broad.mit.edu	37	chr3	137982647	137982647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtctagtgtcaaggtgCggttagctgccgtcaggtat	7	12	14	8	2	3	1	2	1	1	0	3	1	3	1	1	3	3	3	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:137982647C>T	ENST00000469044.1	+	13	1472	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	NME9_ENST00000536478.1_Intron|NME9_ENST00000484930.1_Intron|ARMC8_ENST00000485396.1_Missense_Mutation_p.R328W|ARMC8_ENST00000481646.1_Missense_Mutation_p.R387W|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000461822.1_Missense_Mutation_p.R334W|NME9_ENST00000341790.5_Intron|ARMC8_ENST00000393058.3_Missense_Mutation_p.R391W|ARMC8_ENST00000538260.1_Missense_Mutation_p.R370W|ARMC8_ENST00000491704.1_Missense_Mutation_p.R359W|NME9_ENST00000317876.4_Intron	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	401							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						TGTCAAGGTGCGGTTAGCTGC	0.393													T	137982647	C	T	137982647	3	4	364	1	0	0	0	0	1	0	0	0	962	759	27	1	1275	1	ARMC8	3	137982647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92171	137982647	60039783	3355	26857											
MRAS	22808	broad.mit.edu	37	chr3	138091848	138091848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagatctttgtgcctgaCtatgaccccaccattgaaga	12	10	8	11	0	1	6	0	3	1	3	1	6	1	6	4	0	1	0	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138091848C>A	ENST00000289104.4	+	2	770	c.123C>A	c.(121-123)gaC>gaA	p.D41E	MRAS_ENST00000464896.1_Intron|MRAS_ENST00000474559.1_Missense_Mutation_p.D41E|MRAS_ENST00000423968.2_Missense_Mutation_p.D41E	NM_001085049.2|NM_001252090.1|NM_001252091.1|NM_012219.4	NP_001078518.1|NP_001239019.1|NP_001239020.1|NP_036351.3	O14807	RASM_HUMAN	muscle RAS oncogene homolog	41					actin cytoskeleton organization|muscle organ development|Ras protein signal transduction	intracellular|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity			kidney(1)|large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	14						TTGTGCCTGACTATGACCCCA	0.542													A	138091848	C	A	138091848	3	1	364	1	0	0	0	0	1	0	0	0	9831	564	20	4	125	4	MRAS	3	138091848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109201	138091848	59930582	3356	26858											
ESYT3	83850	broad.mit.edu	37	chr3	138187662	138187662	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttattcctgtgctgcagaGaaacccttttgactacctga	9	13	8	11	1	0	3	0	2	0	1	1	4	1	3	3	0	4	3	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138187662G>T	ENST00000389567.4	+	14	1559	c.1373G>T	c.(1372-1374)aGa>aTa	p.R458I		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	458	C2 2.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						GTGCTGCAGAGAAACCCTTTT	0.468													T	138187662	G	T	138187662	5	4	364	1	0	0	0	0	0	0	1	0	5307	956	33	4	1427	4	ESYT3	3	138187662	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95814	138187662	59834768	3357	26859											
ESYT3	83850	broad.mit.edu	37	chr3	138189867	138189867	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgaggctggtgcttcGggtaaatctctccggtcccc	5	11	11	14	2	1	1	0	1	1	0	6	1	4	1	4	4	1	3	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138189867G>A	ENST00000389567.4	+	17	1925	c.1739G>A	c.(1738-1740)cGg>cAg	p.R580Q		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	580						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTGGTGCTTCGGGTAAATCTC	0.592													A	138189867	G	A	138189867	5	1	364	1	0	0	0	0	0	0	1	0	5307	1130	39	1	1805	1	ESYT3	3	138189867	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2205	138189867	59832563	3358	26860											
CEP70	80321	broad.mit.edu	37	chr3	138256110	138256110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcttcttcctccttttttAatctacagacttccatttgc	7	19	3	12	0	3	1	0	0	3	1	6	2	6	1	3	0	2	0	3	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138256110A>G	ENST00000264982.3	-	7	811	c.545T>C	c.(544-546)tTa>tCa	p.L182S	CEP70_ENST00000464035.1_Missense_Mutation_p.L182S|CEP70_ENST00000484888.1_Missense_Mutation_p.L182S|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000542237.1_Missense_Mutation_p.L162S|CEP70_ENST00000489254.1_Missense_Mutation_p.L30S|CEP70_ENST00000481834.1_Missense_Mutation_p.L182S	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	182					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						CTCCTTTTTTAATCTACAGAC	0.358													G	138256110	A	G	138256110	3	3	364	1	0	0	0	0	1	0	0	0	3289	372	13	3	1296	3	CEP70	3	138256110	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	66243	138256110	59766320	3359	26861											
PIK3CB	5291	broad.mit.edu	37	chr3	138426069	138426069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaacatgcaaagctgttgCattttcagtatatggatttg	11	17	8	5	0	1	0	1	0	0	0	1	1	1	1	0	1	4	5	0	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138426069C>T	ENST00000477593.1	-	10	1535	c.1462G>A	c.(1462-1464)Gca>Aca	p.A488T	PIK3CB_ENST00000289153.2_Missense_Mutation_p.A488T|PIK3CB_ENST00000544716.1_Intron			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	488					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AAAGCTGTTGCATTTTCAGTA	0.313													T	138426069	C	T	138426069	3	4	364	1	0	0	0	0	1	0	0	0	11991	710	25	2	1804	2	PIK3CB	3	138426069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169959	138426069	59596361	3360	26862											
PIK3CB	5291	broad.mit.edu	37	chr3	138461598	138461598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatttacttcaggatcCttcaaggaatcaaattcatg	14	14	5	8	0	5	0	5	0	0	0	6	2	6	2	1	2	1	0	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138461598C>A	ENST00000477593.1	-	4	496	c.423G>T	c.(421-423)aaG>aaT	p.K141N	PIK3CB_ENST00000289153.2_Missense_Mutation_p.K141N			P42338	PK3CB_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta	141					activation of MAPK activity|chemotaxis|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTCAGGATCCTTCAAGGAAT	0.323													A	138461598	C	A	138461598	3	1	364	1	0	0	0	0	1	0	0	0	11991	680	24	4	2867	4	PIK3CB	3	138461598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35529	138461598	59560832	3361	26863											
FOXL2	668	broad.mit.edu	37	chr3	138664485	138664485	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttgctgtcgtggtcccaGtaagagcaatgcatcatggc	8	11	12	10	1	2	1	1	0	1	1	4	1	3	1	1	2	3	4	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:138664485G>A	ENST00000330315.3	-	1	1497	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_023067.3	NP_075555.1	P58012	FOXL2_HUMAN	forkhead box L2	360					convergent extension|DNA fragmentation involved in apoptotic nuclear change|embryonic eye morphogenesis|extraocular skeletal muscle development|female somatic sex determination|induction of apoptosis|menstruation|negative regulation of transcription, DNA-dependent|ovarian follicle development|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			large_intestine(1)|lung(1)|ovary(333)|skin(1)	336						CGTGGTCCCAGTAAGAGCAAT	0.711			Mis		granulosa-cell tumour of the ovary		"Blepharophimosis, ptosis and epicanthus inversus Types I, II; Premature ovarian failure type III"						A	138664485	G	A	138664485	2	1	364	1	0	0	0	0	0	0	0	1	6068	1024	36	2		2	FOXL2	3	138664485	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202887	138664485	59357945	3362	26864											
MRPS22	56945	broad.mit.edu	37	chr3	139069024	139069024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttttctattttaggagCgttttattgtcgtcagagaa	9	19	9	4	2	2	1	1	0	1	1	3	3	2	2	0	1	1	2	0	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139069024C>T	ENST00000495075.1	+	6	940	c.508C>T	c.(508-510)Cgt>Tgt	p.R170C	MRPS22_ENST00000465056.1_Missense_Mutation_p.R169C|MRPS22_ENST00000478464.1_Missense_Mutation_p.R129C|MRPS22_ENST00000310776.4_Missense_Mutation_p.R170C			P82650	RT22_HUMAN	mitochondrial ribosomal protein S22	170			R -> H (in COXPD5).			mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12						ATTTTAGGAGCGTTTTATTGT	0.398													T	139069024	C	T	139069024	3	4	364	1	0	0	0	0	1	0	0	0	9909	768	27	1	522	1	MRPS22	3	139069024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404539	139069024	58953406	3363	26865											
COPB2	9276	broad.mit.edu	37	chr3	139079976	139079976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttgccatctctctcCgcaccctctgctagcttgtt	4	18	5	14	1	3	0	0	0	3	0	5	0	3	0	3	0	3	4	3	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139079976C>T	ENST00000333188.5	-	17	2338	c.2157G>A	c.(2155-2157)gcG>gcA	p.A719A	COPB2_ENST00000507777.1_Silent_p.A690A	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	719					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity	p.A719A(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						CATCTCTCTCCGCACCCTCTG	0.443													T	139079976	C	T	139079976	2	4	364	1	0	0	0	0	0	0	0	1	3760	639	23	1		1	COPB2	3	139079976	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10952	139079976	58942454	3364	26866											
COPB2	9276	broad.mit.edu	37	chr3	139085532	139085532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtattccaggactgaaaccaGcagggaatagctaatgatgt	14	9	11	7	0	0	2	0	2	0	0	1	4	1	4	2	2	3	3	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139085532G>T	ENST00000333188.5	-	15	1943	c.1762C>A	c.(1762-1764)Ctg>Atg	p.L588M	COPB2_ENST00000507777.1_Missense_Mutation_p.L559M	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	588					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ACTGAAACCAGCAGGGAATAG	0.443													T	139085532	G	T	139085532	3	4	364	1	0	0	0	0	1	0	0	0	3760	962	34	4	990	4	COPB2	3	139085532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5556	139085532	58936898	3365	26867											
COPB2	9276	broad.mit.edu	37	chr3	139090653	139090653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagatgatatactcccCatcaccacacaccaccacaa	14	8	4	15	0	1	2	1	1	0	1	2	2	2	2	5	0	1	1	5	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139090653C>A	ENST00000333188.5	-	10	1298	c.1117G>T	c.(1117-1119)Ggg>Tgg	p.G373W	COPB2_ENST00000507777.1_Missense_Mutation_p.G344W	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	373					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						ATATACTCCCCATCACCACAC	0.433													A	139090653	C	A	139090653	3	1	364	1	0	0	0	0	1	0	0	0	3760	594	21	4	1655	4	COPB2	3	139090653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5121	139090653	58931777	3366	26868											
COPB2	9276	broad.mit.edu	37	chr3	139092102	139092102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtatatttcacaactGcccatatcctttactgccag	10	13	7	11	0	1	1	1	1	0	0	2	1	2	1	3	1	4	1	3	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092102G>A	ENST00000333188.5	-	9	1228	c.1047C>T	c.(1045-1047)ggC>ggT	p.G349G	COPB2_ENST00000507777.1_Silent_p.G320G	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	349					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TTTCACAACTGCCCATATCCT	0.448													A	139092102	G	A	139092102	2	1	364	1	0	0	0	0	0	0	0	1	3760	1306	46	2		2	COPB2	3	139092102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1449	139092102	58930328	3367	26869											
COPB2	9276	broad.mit.edu	37	chr3	139092254	139092254	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaggttcctcccgaccaaGctgaaagaaagaaaaatagc	16	5	10	10	1	0	3	0	1	0	2	2	4	2	3	3	2	2	3	3	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139092254G>A	ENST00000333188.5	-	9	1076	c.895C>T	c.(895-897)Ctt>Ttt	p.L299F	COPB2_ENST00000507777.1_Splice_Site_p.L270F	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	299					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TCCCGACCAAGCTGAAAGAAA	0.408													A	139092254	G	A	139092254	5	1	364	1	0	0	0	0	0	0	1	0	3760	985	34	2	1881	2	COPB2	3	139092254	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152	139092254	58930176	3368	26870											
RBP1	5947	broad.mit.edu	37	chr3	139257633	139257633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatcctcaccatgcacttgCggtcatctatgcctgtcaga	9	11	8	13	1	4	1	3	0	1	1	5	2	5	1	3	1	3	1	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139257633C>T	ENST00000483943.2	-	2	428	c.428G>A	c.(427-429)cGc>cAc	p.R143H	RBP1_ENST00000232219.2_Missense_Mutation_p.R143H|RP11-319G6.1_ENST00000515247.1_RNA|RBP1_ENST00000492918.1_Missense_Mutation_p.R143H	NM_001130993.1	NP_001124465.1	P09455	RET1_HUMAN	retinol binding protein 1, cellular	81						cytoplasm	retinal binding|retinol binding|transporter activity			endometrium(1)|large_intestine(2)|lung(1)|prostate(1)	5					Vitamin A(DB00162)	CATGCACTTGCGGTCATCTAT	0.572													T	139257633	C	T	139257633	3	4	364	1	0	0	0	0	1	0	0	0	13243	768	27	1	245	1	RBP1	3	139257633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165379	139257633	58764797	3369	26871											
NMNAT3	349565	broad.mit.edu	37	chr3	139280028	139280028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgatctcattctgcacagGctccttggccaggtgaatgt	8	12	10	11	0	2	2	1	2	2	0	4	2	3	2	2	3	1	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139280028G>A	ENST00000406824.1	-	7	1447	c.253C>T	c.(253-255)Cct>Tct	p.P85S	NMNAT3_ENST00000339837.5_Missense_Mutation_p.P158S|RP11-319G6.1_ENST00000381790.3_RNA|RP11-319G6.1_ENST00000515247.1_RNA|NMNAT3_ENST00000507242.1_5'UTR|NMNAT3_ENST00000406164.1_Missense_Mutation_p.P158S|NMNAT3_ENST00000413939.2_Missense_Mutation_p.P106S|NMNAT3_ENST00000296202.7_Missense_Mutation_p.P195S|NMNAT3_ENST00000511444.1_3'UTR			Q96T66	NMNA3_HUMAN	nicotinamide nucleotide adenylyltransferase 3	195					water-soluble vitamin metabolic process	cytosol|mitochondrion	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)	9						TTCTGCACAGGCTCCTTGGCC	0.542													A	139280028	G	A	139280028	3	1	364	1	0	0	0	0	1	0	0	0	10576	1203	42	2	179	2	NMNAT3	3	139280028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22395	139280028	58742402	3370	26872											
CLSTN2	64084	broad.mit.edu	37	chr3	139894901	139894901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctggataaagatgcacCggttccttttgcaggtgaga	10	10	12	9	1	0	2	0	1	0	2	1	4	1	3	3	3	3	3	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:139894901C>T	ENST00000458420.3	+	2	408	c.218C>T	c.(217-219)cCg>cTg	p.P73L		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	73	Cadherin 1.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						AAAGATGCACCGGTTCCTTTT	0.478										HNSCC(16;0.037)			T	139894901	C	T	139894901	3	4	364	1	0	0	0	0	1	0	0	0	3593	652	23	1	224	1	CLSTN2	3	139894901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	614873	139894901	58127529	3371	26873											
CLSTN2	64084	broad.mit.edu	37	chr3	140123471	140123471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagccagcctacaaggCtgttgtgacggagggcaaga	13	5	14	9	1	0	3	0	1	0	2	0	4	0	4	2	3	3	3	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140123471C>T	ENST00000458420.3	+	4	690	c.500C>T	c.(499-501)gCt>gTt	p.A167V		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	167	Cadherin 2.				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						GCCTACAAGGCTGTTGTGACG	0.532										HNSCC(16;0.037)			T	140123471	C	T	140123471	3	4	364	1	0	0	0	0	1	0	0	0	3593	797	28	2	514	2	CLSTN2	3	140123471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228570	140123471	57898959	3372	26874											
CLSTN2	64084	broad.mit.edu	37	chr3	140185494	140185494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtatgtgcacaactgccGcctcgtctttctcttgcgga	5	13	9	14	3	2	0	0	0	2	0	4	1	2	1	3	1	4	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140185494G>A	ENST00000458420.3	+	8	1455	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	422					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						CACAACTGCCGCCTCGTCTTT	0.547										HNSCC(16;0.037)			A	140185494	G	A	140185494	3	1	364	1	0	0	0	0	1	0	0	0	3593	1087	38	1	1295	1	CLSTN2	3	140185494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62023	140185494	57836936	3373	26875											
TRIM42	287015	broad.mit.edu	37	chr3	140401710	140401710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagcgcatcgcttacaagCgctgcatcacctgccgcctc	9	7	8	17	4	1	0	1	0	0	0	3	0	1	0	3	0	5	4	3	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140401710C>T	ENST00000286349.3	+	2	939	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	250						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGCTTACAAGCGCTGCATCAC	0.622													T	140401710	C	T	140401710	3	4	364	1	0	0	0	0	1	0	0	0	16618	768	27	1	754	1	TRIM42	3	140401710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216216	140401710	57620720	3374	26876											
TRIM42	287015	broad.mit.edu	37	chr3	140407030	140407030	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtacgctcctcaggggaCtccctgccctccccctaccc	6	7	8	20	1	1	0	1	0	0	0	4	1	4	1	6	3	3	2	6	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140407030C>T	ENST00000286349.3	+	3	1697	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	502						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CCTCAGGGGACTCCCTGCCCT	0.557													T	140407030	C	T	140407030	2	4	364	1	0	0	0	0	0	0	0	1	16618	564	20	2		2	TRIM42	3	140407030	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5320	140407030	57615400	3375	26877											
TRIM42	287015	broad.mit.edu	37	chr3	140409860	140409860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcttttgagatggaattCtatgaagtcattacttctcc	10	16	7	8	0	4	2	1	2	3	1	5	5	4	3	1	1	1	0	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140409860C>T	ENST00000286349.3	+	4	2102	c.1911C>T	c.(1909-1911)ttC>ttT	p.F637F		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	637	Fibronectin type-III.					intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						AGATGGAATTCTATGAAGTCA	0.433													T	140409860	C	T	140409860	2	4	364	1	0	0	0	0	0	0	0	1	16618	912	32	2		2	TRIM42	3	140409860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2830	140409860	57612570	3376	26878											
TRIM42	287015	broad.mit.edu	37	chr3	140419810	140419810	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctgccctccagaagcaCttctgagccccttcagagca	9	8	8	16	0	3	3	1	1	2	2	4	3	4	3	4	0	4	2	4	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140419810C>T	ENST00000286349.3	+	5	2357	c.2166C>T	c.(2164-2166)caC>caT	p.H722H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	722						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCCAGAAGCACTTCTGAGCCC	0.458													T	140419810	C	T	140419810	2	4	364	1	0	0	0	0	0	0	0	1	16618	564	20	2		2	TRIM42	3	140419810	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9950	140419810	57602620	3377	26879											
ACPL2	92370	broad.mit.edu	37	chr3	140997342	140997342	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagcgcagcatggaaGgtaggcctgactgtgccacc	8	6	15	12	2	0	1	0	1	0	0	0	3	0	2	4	4	3	3	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:140997342G>T	ENST00000508812.1	+	2	2118	c.211G>T	c.(211-213)Ggt>Tgt	p.G71C	ACPL2_ENST00000504264.1_Splice_Site_p.G63C|ACPL2_ENST00000393007.1_Splice_Site_p.G64C|ACPL2_ENST00000502783.1_Splice_Site_p.G42C|ACPL2_ENST00000286353.4_Splice_Site_p.G80C|ACPL2_ENST00000393010.2_Splice_Site_p.G80C|RP11-438D8.2_ENST00000507698.1_RNA			Q8TE99	ACPL2_HUMAN	acid phosphatase-like 2	80						extracellular region	acid phosphatase activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|prostate(2)|skin(2)	23						CAGCATGGAAGGTAGGCCTGA	0.567													T	140997342	G	T	140997342	5	4	364	1	0	0	0	0	0	0	1	0	166	1014	35	4	244	4	ACPL2	3	140997342	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	577532	140997342	57025088	3378	26880											
ZBTB38	253461	broad.mit.edu	37	chr3	141161619	141161619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatcgcaacttctcaaattCcccgggtccctatgtattct	8	14	6	13	2	2	1	1	1	2	0	6	1	4	1	3	1	1	2	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161619C>T	ENST00000514251.1	+	4	668	c.389C>T	c.(388-390)tCc>tTc	p.S130F	ZBTB38_ENST00000441582.2_Missense_Mutation_p.S130F|ZBTB38_ENST00000321464.5_Missense_Mutation_p.S131F			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	130					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						TTCTCAAATTCCCCGGGTCCC	0.433													T	141161619	C	T	141161619	3	4	364	1	0	0	0	0	1	0	0	0	17640	855	30	2	391	2	ZBTB38	3	141161619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164277	141161619	56860811	3379	26881											
ZBTB38	253461	broad.mit.edu	37	chr3	141161791	141161791	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgctggacttgagggcAagtttcaaaaaggtctccga	10	9	11	11	2	2	1	1	1	1	0	4	3	3	2	3	3	0	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141161791A>G	ENST00000514251.1	+	4	840	c.561A>G	c.(559-561)gcA>gcG	p.A187A	ZBTB38_ENST00000441582.2_Silent_p.A187A|ZBTB38_ENST00000321464.5_Silent_p.A188A			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	187					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						ACTTGAGGGCAAGTTTCAAAA	0.502													G	141161791	A	G	141161791	2	3	364	1	0	0	0	0	0	0	0	1	17640	117	5	3		3	ZBTB38	3	141161791	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	172	141161791	56860639	3380	26882											
ZBTB38	253461	broad.mit.edu	37	chr3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgaagtgttcgatgacGcaagtgaccaggattccact	11	10	12	8	2	0	4	0	4	0	0	2	6	1	5	2	1	0	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T|ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502													A	141163946	G	A	141163946	3	1	364	1	0	0	0	0	1	0	0	0	17640	1087	38	1	2718	1	ZBTB38	3	141163946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2155	141163946	56858484	3381	26883											
RASA2	5922	broad.mit.edu	37	chr3	141292883	141292883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatatcttttattctctaaGgcagatggctactcagagat	11	15	8	7	0	3	3	1	1	2	2	4	4	3	3	0	2	1	2	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141292883G>A	ENST00000286364.3	+	14	1492	c.1457G>A	c.(1456-1458)aGg>aAg	p.R486K	RASA2_ENST00000452898.1_Missense_Mutation_p.R486K			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	486	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						TATTCTCTAAGGCAGATGGCT	0.328													A	141292883	G	A	141292883	3	1	364	1	0	0	0	0	1	0	0	0	13149	1000	35	2	1511	2	RASA2	3	141292883	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128937	141292883	56729547	3382	26884											
RASA2	5922	broad.mit.edu	37	chr3	141327524	141327524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgaaaacactctcggctGcaagccatgtactgcgtaag	11	9	11	10	2	1	1	0	1	1	0	2	1	1	1	1	2	5	4	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141327524G>A	ENST00000286364.3	+	21	2245	c.2210G>A	c.(2209-2211)tGc>tAc	p.C737Y	RASA2_ENST00000509118.1_3'UTR|RASA2_ENST00000452898.1_Missense_Mutation_p.C738Y			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ACTCTCGGCTGCAAGCCATGT	0.393													A	141327524	G	A	141327524	3	1	364	1	0	0	0	0	1	0	0	0	13149	1319	46	2	2292	2	RASA2	3	141327524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34641	141327524	56694906	3383	26885											
GK5	256356	broad.mit.edu	37	chr3	141901842	141901842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatggttaatttcacatcaCctgtctggaagcagcactct	10	12	7	12	0	4	0	2	0	2	0	4	1	4	1	2	2	2	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:141901842C>A	ENST00000392993.2	-	10	1017	c.866G>T	c.(865-867)gGt>gTt	p.G289V		NM_001039547.2	NP_001034636.1	Q6ZS86	GLPK5_HUMAN	glycerol kinase 5 (putative)	289					glycerol metabolic process		ATP binding|glycerol kinase activity			kidney(1)|large_intestine(1)|lung(7)|urinary_tract(1)	10						TTTCACATCACCTGTCTGGAA	0.413													A	141901842	C	A	141901842	3	1	364	1	0	0	0	0	1	0	0	0	6478	507	18	4	751	4	GK5	3	141901842	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	574318	141901842	56120588	3384	26886											
XRN1	54464	broad.mit.edu	37	chr3	142030504	142030504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggttgagcaatcggaGaggacttcaaagaagctgat	14	8	13	6	1	1	4	1	2	0	2	2	6	1	5	0	3	3	4	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142030504G>T	ENST00000264951.4	-	42	5087	c.4970C>A	c.(4969-4971)tCt>tAt	p.S1657Y	XRN1_ENST00000392981.2_Missense_Mutation_p.S1645Y	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1657					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						AGCAATCGGAGAGGACTTCAA	0.448													T	142030504	G	T	142030504	3	4	364	1	0	0	0	0	1	0	0	0	17561	942	33	4	154	4	XRN1	3	142030504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128662	142030504	55991926	3385	26887											
XRN1	54464	broad.mit.edu	37	chr3	142037526	142037526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggcaaagggaaattcatgCctaaggagccctgtggaagt	14	7	13	7	0	1	0	1	0	0	0	1	3	1	3	2	4	2	1	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142037526C>T	ENST00000264951.4	-	39	4643	c.4526G>A	c.(4525-4527)gGc>gAc	p.G1509D	XRN1_ENST00000392981.2_Missense_Mutation_p.G1510D	NM_019001.3	NP_061874.3	Q8IZH2	XRN1_HUMAN	5'-3' exoribonuclease 1	1509					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|histone mRNA catabolic process|nuclear mRNA surveillance|rRNA catabolic process	cytosol|Golgi apparatus|intermediate filament cytoskeleton|plasma membrane	5'-3' exonuclease activity|DNA binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(6)|kidney(12)|large_intestine(11)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	61						GAAATTCATGCCTAAGGAGCC	0.393													T	142037526	C	T	142037526	3	4	364	1	0	0	0	0	1	0	0	0	17561	739	26	2	610	2	XRN1	3	142037526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7022	142037526	55984904	3386	26888											
ATR	545	broad.mit.edu	37	chr3	142168414	142168414	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgattacaccttgtagtcGctgctcaatgtcaagaacat	11	13	7	10	1	2	2	2	1	0	1	3	2	2	2	1	0	3	3	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142168414G>A	ENST00000350721.4	-	47	7913	c.7792C>T	c.(7792-7794)Cga>Tga	p.R2598*	ATR_ENST00000383101.3_Nonsense_Mutation_p.R2534*	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	2598					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCTTGTAGTCGCTGCTCAATG	0.353								Other conserved DNA damage response genes					A	142168414	G	A	142168414	4	1	364	1	0	0	0	0	0	1	0	0	1209	1095	38	1	146	1	ATR	3	142168414	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130888	142168414	55854016	3387	26889											
ATR	545	broad.mit.edu	37	chr3	142226890	142226890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctactgccagagtatcCtggggtatgaggtctagaaa	12	9	13	7	0	1	3	0	1	1	2	2	4	2	3	2	3	3	3	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142226890C>A	ENST00000350721.4	-	28	5035	c.4914G>T	c.(4912-4914)caG>caT	p.Q1638H	ATR_ENST00000383101.3_Missense_Mutation_p.Q1574H	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1638					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						CCAGAGTATCCTGGGGTATGA	0.363								Other conserved DNA damage response genes					A	142226890	C	A	142226890	3	1	364	1	0	0	0	0	1	0	0	0	1209	680	24	4	3100	4	ATR	3	142226890	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58476	142226890	55795540	3388	26890											
ATR	545	broad.mit.edu	37	chr3	142281097	142281097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatctacctcaattccaaGcacatccaaaagagctttac	14	10	4	13	0	2	1	1	0	1	1	4	1	4	1	3	0	5	3	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142281097G>A	ENST00000350721.4	-	4	1268	c.1147C>T	c.(1147-1149)Ctt>Ttt	p.L383F	ATR_ENST00000383101.3_Missense_Mutation_p.L383F	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	383					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						TCAATTCCAAGCACATCCAAA	0.333								Other conserved DNA damage response genes					A	142281097	G	A	142281097	3	1	364	1	0	0	0	0	1	0	0	0	1209	971	34	2	6963	2	ATR	3	142281097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54207	142281097	55741333	3389	26891											
TRPC1	7220	broad.mit.edu	37	chr3	142496479	142496479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattttatcacaggtttcGtcttgatatatatcgatgtt	10	18	6	7	2	2	1	1	1	1	0	4	2	2	1	1	1	0	2	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142496479G>A	ENST00000273482.6	+	4	927	c.536G>A	c.(535-537)cGt>cAt	p.R179H	TRPC1_ENST00000476941.1_Missense_Mutation_p.R213H	NM_003304.4	NP_003295.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	213					axon guidance|cytosolic calcium ion homeostasis|positive regulation of release of sequestered calcium ion into cytosol|response to calcium ion	cytosol|integral to plasma membrane	protein binding|store-operated calcium channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						CACAGGTTTCGTCTTGATATA	0.279													A	142496479	G	A	142496479	3	1	364	1	0	0	0	0	1	0	0	0	16679	1145	40	1	550	1	TRPC1	3	142496479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215382	142496479	55525951	3390	26892											
PAQR9	344838	broad.mit.edu	37	chr3	142681702	142681702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccgtagtagctgatggaCgcgtagtccaggtagaagaa	13	7	14	7	3	0	3	0	1	0	2	1	4	1	4	2	2	2	5	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:142681702C>T	ENST00000340634.3	-	1	476	c.477G>A	c.(475-477)gcG>gcA	p.A159A		NM_198504.2	NP_940906.1	Q6ZVX9	PAQR9_HUMAN	progestin and adipoQ receptor family member IX	159						integral to membrane	receptor activity			endometrium(2)|large_intestine(7)|lung(12)|prostate(1)	22						AGCTGATGGACGCGTAGTCCA	0.612													T	142681702	C	T	142681702	2	4	364	1	0	0	0	0	0	0	0	1	11518	523	19	1		1	PAQR9	3	142681702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185223	142681702	55340728	3391	26893											
C3orf58	205428	broad.mit.edu	37	chr3	143708484	143708484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattactatgctgtttgtcAgaacctcttatccagacatg	11	14	6	10	0	2	2	1	0	1	2	3	2	3	2	2	0	3	2	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:143708484A>G	ENST00000315691.3	+	3	1629	c.1094A>G	c.(1093-1095)cAg>cGg	p.Q365R	C3orf58_ENST00000495414.1_Missense_Mutation_p.Q156R|C3orf58_ENST00000441925.2_Missense_Mutation_p.Q127R|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	365						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGTTTGTCAGAACCTCTTA	0.473													G	143708484	A	G	143708484	3	3	364	1	0	0	0	0	1	0	0	0	2257	188	7	3	1138	3	C3orf58	3	143708484	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1026782	143708484	54313946	3392	26894											
PLOD2	5352	broad.mit.edu	37	chr3	145794589	145794589	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggattttcaaaaatctGccagaggtcattgttataat	14	13	7	7	0	3	1	2	0	1	1	3	2	3	2	1	2	1	1	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145794589G>A	ENST00000282903.5	-	15	1834	c.1657C>T	c.(1657-1659)Cag>Tag	p.Q553*	PLOD2_ENST00000461497.1_Nonsense_Mutation_p.Q213*|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000360060.3_Nonsense_Mutation_p.Q532*|PLOD2_ENST00000494950.1_Nonsense_Mutation_p.Q498*	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	532					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TCAAAAATCTGCCAGAGGTCA	0.289													A	145794589	G	A	145794589	4	1	364	1	0	0	0	0	0	1	0	0	12179	1328	46	2	643	2	PLOD2	3	145794589	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2086105	145794589	52227841	3393	26895											
PLSCR4	57088	broad.mit.edu	37	chr3	145914444	145914444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacagaatctgaaccacagCcataggttgagcatggccca	15	6	9	11	0	1	3	0	2	1	1	1	3	1	3	3	2	4	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:145914444C>T	ENST00000354952.2	-	7	1001	c.761G>A	c.(760-762)gGc>gAc	p.G254D	PLSCR4_ENST00000433593.2_Missense_Mutation_p.G149D|PLSCR4_ENST00000493382.1_Missense_Mutation_p.G254D|PLSCR4_ENST00000383083.2_Missense_Mutation_p.G164D|PLSCR4_ENST00000446574.2_Missense_Mutation_p.G254D	NM_020353.2	NP_065086.2	Q9NRQ2	PLS4_HUMAN	phospholipid scramblase 4	254					blood coagulation|phospholipid scrambling	integral to membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			kidney(1)|large_intestine(6)|lung(9)|urinary_tract(1)	17						TGAACCACAGCCATAGGTTGA	0.403													T	145914444	C	T	145914444	3	4	364	1	0	0	0	0	1	0	0	0	12189	739	26	2	240	2	PLSCR4	3	145914444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119855	145914444	52107986	3394	26896											
PLSCR2	57047	broad.mit.edu	37	chr3	146171805	146171805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctcaaaatcaacacccGcaatacagctgcacacgata	16	7	4	14	2	2	0	2	0	0	0	2	1	2	0	2	0	5	3	2	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146171805G>A	ENST00000497985.1	-	7	1125	c.686C>T	c.(685-687)gCg>gTg	p.A229V	PLSCR2_ENST00000336685.2_Missense_Mutation_p.A156V	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	156					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity	p.A156E(1)|p.A156V(1)|p.A229E(1)		endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						ATCAACACCCGCAATACAGCT	0.323													A	146171805	G	A	146171805	3	1	364	1	0	0	0	0	1	0	0	0	12187	1087	38	1	219	1	PLSCR2	3	146171805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	257361	146171805	51850625	3395	26897											
PLSCR1	5359	broad.mit.edu	37	chr3	146239443	146239443	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtagacatgggtgccaaGtctgaataacataacctatt	13	12	9	7	0	1	2	0	1	1	1	1	2	1	2	2	2	3	1	2	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146239443G>T	ENST00000342435.4	-	7	1036	c.626C>A	c.(625-627)aCt>aAt	p.T209N	PLSCR1_ENST00000448787.2_Missense_Mutation_p.T128N|PLSCR1_ENST00000487389.1_Missense_Mutation_p.T202N|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	209					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGGGTGCCAAGTCTGAATAAC	0.358													T	146239443	G	T	146239443	3	4	364	1	0	0	0	0	1	0	0	0	12186	1029	36	4	342	4	PLSCR1	3	146239443	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67638	146239443	51782987	3396	26898											
PLSCR1	5359	broad.mit.edu	37	chr3	146246561	146246561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccaggacctgaatggccgGctggtgggggtgggtagctg	5	7	21	8	1	0	1	0	1	0	0	0	2	0	2	3	8	1	3	3	8	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:146246561G>A	ENST00000342435.4	-	4	562	c.152C>T	c.(151-153)gCc>gTc	p.A51V	PLSCR1_ENST00000448787.2_Intron|PLSCR1_ENST00000487389.1_Missense_Mutation_p.A44V|PLSCR1_ENST00000448205.1_Intron	NM_021105.2	NP_066928.1	O15162	PLS1_HUMAN	phospholipid scramblase 1	51					phospholipid scrambling|platelet activation|response to virus	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity|SH3 domain binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15						TGAATGGCCGGCTGGTGGGGG	0.522													A	146246561	G	A	146246561	3	1	364	1	0	0	0	0	1	0	0	0	12186	1203	42	2	828	2	PLSCR1	3	146246561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7118	146246561	51775869	3397	26899											
ZIC4	84107	broad.mit.edu	37	chr3	147113651	147113651	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atactgacctgtgtgagttcGtttgtgtattttgagatttt	7	20	10	4	1	0	3	0	3	0	1	1	4	0	3	1	0	1	3	1	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:147113651G>A	ENST00000383075.3	-	3	1188	c.676C>T	c.(676-678)Cga>Tga	p.R226*	ZIC4_ENST00000425731.3_Nonsense_Mutation_p.R264*|ZIC4_ENST00000491672.1_Intron|ZIC4_ENST00000525172.2_Nonsense_Mutation_p.R276*|ZIC4_ENST00000484399.1_Nonsense_Mutation_p.R226*|ZIC4_ENST00000473123.1_Nonsense_Mutation_p.R226*	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	226						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GTGTGAGTTCGTTTGTGTATT	0.557													A	147113651	G	A	147113651	4	1	364	1	0	0	0	0	0	1	0	0	17782	1153	40	1	340	1	ZIC4	3	147113651	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	867090	147113651	50908779	3398	26900											
HLTF	6596	broad.mit.edu	37	chr3	148750076	148750076	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgtcagcatttggttttttAgttccaaaggctcctgctgc	6	16	9	10	1	1	0	1	0	0	0	4	0	3	0	2	2	3	5	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148750076A>T	ENST00000310053.5	-	25	3154	c.2961T>A	c.(2959-2961)acT>acA	p.T987T	HLTF_ENST00000465259.1_Silent_p.T986T|HLTF_ENST00000494055.1_Silent_p.T987T|HLTF_ENST00000392912.2_Silent_p.T987T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	987	Helicase C-terminal.|Interaction with SP1 and SP3.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGGTTTTTTAGTTCCAAAGG	0.299													T	148750076	A	T	148750076	2	4	364	1	0	0	0	0	0	0	0	1	7270	407	15	5		5	HLTF	3	148750076	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1636425	148750076	49272354	3399	26901											
HLTF	6596	broad.mit.edu	37	chr3	148756915	148756915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggacagaagcattataGttggagatcctgcttcagtg	12	12	11	6	0	1	2	1	0	0	2	2	4	2	3	1	2	2	3	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148756915G>A	ENST00000310053.5	-	23	2910	c.2717C>T	c.(2716-2718)aCt>aTt	p.T906I	HLTF_ENST00000465259.1_Missense_Mutation_p.T905I|HLTF_ENST00000494055.1_Missense_Mutation_p.T906I|HLTF_ENST00000392912.2_Missense_Mutation_p.T906I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	906	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			AAGCATTATAGTTGGAGATCC	0.393													A	148756915	G	A	148756915	3	1	364	1	0	0	0	0	1	0	0	0	7270	1029	36	2	324	2	HLTF	3	148756915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6839	148756915	49265515	3400	26902											
HLTF	6596	broad.mit.edu	37	chr3	148757856	148757856	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatcagactttttctCactgtcacgtgctaattctt	8	18	4	11	1	4	1	3	0	2	1	6	1	5	1	1	0	1	1	1	0	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148757856C>A	ENST00000310053.5	-	21	2657	c.2464G>T	c.(2464-2466)Gag>Tag	p.E822*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.E821*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.E822*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E822*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	822					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GACTTTTTCTCACTGTCACGT	0.323													A	148757856	C	A	148757856	4	1	364	1	0	0	0	0	0	1	0	0	7270	835	29	4	585	4	HLTF	3	148757856	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	941	148757856	49264574	3401	26903											
HLTF	6596	broad.mit.edu	37	chr3	148759321	148759321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacagggtttacaaaataCatgtgcacaatgtgttatca	16	12	7	6	0	1	0	1	0	0	0	1	0	1	0	0	1	4	3	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148759321C>T	ENST00000310053.5	-	20	2525	c.2332G>A	c.(2332-2334)Gta>Ata	p.V778I	HLTF_ENST00000465259.1_Missense_Mutation_p.V777I|HLTF_ENST00000494055.1_Missense_Mutation_p.V778I|HLTF_ENST00000392912.2_Missense_Mutation_p.V778I	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	778					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTACAAAATACATGTGCACAA	0.378													T	148759321	C	T	148759321	3	4	364	1	0	0	0	0	1	0	0	0	7270	478	17	2	721	2	HLTF	3	148759321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1465	148759321	49263109	3402	26904											
HLTF	6596	broad.mit.edu	37	chr3	148781309	148781309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttcactacatctagatgCgtctatttcaaagaaaaatg	14	14	6	7	1	4	2	2	0	2	2	4	2	4	2	0	0	2	1	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148781309C>T	ENST00000310053.5	-	10	1262	c.1069G>A	c.(1069-1071)Gca>Aca	p.A357T	HLTF_ENST00000465259.1_Missense_Mutation_p.A357T|HLTF_ENST00000494055.1_Missense_Mutation_p.A357T|HLTF_ENST00000392912.2_Missense_Mutation_p.A357T	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	357					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CATCTAGATGCGTCTATTTCA	0.343													T	148781309	C	T	148781309	3	4	364	1	0	0	0	0	1	0	0	0	7270	768	27	1	2024	1	HLTF	3	148781309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21988	148781309	49241121	3403	26905											
HLTF	6596	broad.mit.edu	37	chr3	148789435	148789435	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaacaatttgtcaaattCtgttttaagctacaataaac	16	15	3	7	0	3	0	2	0	1	0	3	0	3	0	0	0	4	2	0	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148789435C>A	ENST00000310053.5	-	6	830	c.637G>T	c.(637-639)Gaa>Taa	p.E213*	HLTF_ENST00000465259.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000494055.1_Nonsense_Mutation_p.E213*|HLTF_ENST00000392912.2_Nonsense_Mutation_p.E213*	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	213				KTE -> PEF (in Ref. 6; AAB27691).	chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding	p.E213K(1)		breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TTGTCAAATTCTGTTTTAAGC	0.259													A	148789435	C	A	148789435	4	1	364	1	0	0	0	0	0	1	0	0	7270	922	32	4	2472	4	HLTF	3	148789435	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8126	148789435	49232995	3404	26906											
HPS3	84343	broad.mit.edu	37	chr3	148880648	148880648	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctgacaccacaccattgCgaacatcggaggatctggta	11	8	9	13	2	1	1	0	1	1	0	3	4	2	3	3	3	2	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148880648C>T	ENST00000296051.2	+	13	2604	c.2464C>T	c.(2464-2466)Cga>Tga	p.R822*	HPS3_ENST00000460120.1_Nonsense_Mutation_p.R657*	NM_032383.3	NP_115759.2	Q969F9	HPS3_HUMAN	Hermansky-Pudlak syndrome 3	822						cytoplasm		p.R822*(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	34			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			CACACCATTGCGAACATCGGA	0.373									Hermansky-Pudlak syndrome				T	148880648	C	T	148880648	4	4	364	1	0	0	0	0	0	1	0	0	7395	760	27	1	2514	1	HPS3	3	148880648	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91213	148880648	49141782	3405	26907											
CP	1356	broad.mit.edu	37	chr3	148925399	148925399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccaaaagtgtatccatTcacagctgtaagtcaagagc	14	10	7	10	0	2	1	2	0	0	1	4	1	4	1	2	0	2	3	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148925399T>C	ENST00000264613.6	-	5	1049	c.787A>G	c.(787-789)Aat>Gat	p.N263D		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GTGTATCCATTCACAGCTGTA	0.398													C	148925399	T	C	148925399	3	2	364	1	0	0	0	0	1	0	0	0	3818	1783	62	3	2470	3	CP	3	148925399	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44751	148925399	49097031	3406	26908											
CP	1356	broad.mit.edu	37	chr3	148928055	148928055	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacaattgccatctcctTccccaggactttgttcttca	8	14	4	15	0	4	0	2	0	2	0	6	1	5	1	4	1	1	1	4	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:148928055T>C	ENST00000264613.6	-	3	768	c.506A>G	c.(505-507)gAa>gGa	p.E169G		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	169	F5/8 type A 1.|Plastocyanin-like 1.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	GCCATCTCCTTCCCCAGGACT	0.408													C	148928055	T	C	148928055	3	2	364	1	0	0	0	0	1	0	0	0	3818	1783	62	3	2759	3	CP	3	148928055	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2656	148928055	49094375	3407	26909											
WWTR1	25937	broad.mit.edu	37	chr3	149290789	149290790	+	Splice_Site	INS	-	-	A																															gtgattttttctatgtgactINSaaaagaaggaaaacaattaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:149290789_149290790insA	ENST00000465804.1	-	4	688		c.e4-2		WWTR1_ENST00000360632.3_Splice_Site|WWTR1_ENST00000467467.1_Splice_Site	NM_001168278.1	NP_001161750.1	Q9GZV5	WWTR1_HUMAN	WW domain containing transcription regulator 1						hippo signaling cascade|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of protein kinase activity|negative regulation of protein phosphorylation|positive regulation of cell proliferation|positive regulation of epithelial to mesenchymal transition|regulation of SMAD protein import into nucleus|stem cell division|transcription, DNA-dependent	cytoplasm	transcription coactivator activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	23			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TCTATGTGACTAAAAGAAGGAA	0.386			T	CAMTA1	epitheliod hemangioendothelioma								A	149290790	-	A	149290789	8	5	364	1	0	1	1	0	0	0	1	0	17519	1536	53	0	792	0	WWTR1	3	149290789	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	362734	149290789	48731641	3408	26910											
MED12L	116931	broad.mit.edu	37	chr3	150877651	150877651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttcagtcggcctacctGtctcgtcgtcttgcctactt	3	17	8	13	3	3	0	1	0	2	0	6	0	3	0	3	1	3	1	3	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150877651G>A	ENST00000474524.1	+	7	908	c.870G>A	c.(868-870)ctG>ctA	p.L290L	MED12L_ENST00000309237.4_Silent_p.L290L|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000422248.2_Silent_p.L290L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	290					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CGGCCTACCTGTCTCGTCGTC	0.483													A	150877651	G	A	150877651	2	1	364	1	0	0	0	0	0	0	0	1	9504	1364	48	2		2	MED12L	3	150877651	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1586862	150877651	47144779	3409	26911											
MED12L	116931	broad.mit.edu	37	chr3	150883718	150883718	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattccagcaattccatggaGacactttatcataagatttt	13	14	6	8	0	1	2	1	0	0	2	3	4	3	2	2	1	1	1	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150883718G>T	ENST00000474524.1	+	10	1481	c.1443G>T	c.(1441-1443)gaG>gaT	p.E481D	MED12L_ENST00000309237.4_Missense_Mutation_p.E481D|MED12L_ENST00000273432.4_Missense_Mutation_p.E341D|MED12L_ENST00000422248.2_Missense_Mutation_p.E481D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	481					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCCATGGAGACACTTTATC	0.353													T	150883718	G	T	150883718	3	4	364	1	0	0	0	0	1	0	0	0	9504	933	33	4	1481	4	MED12L	3	150883718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6067	150883718	47138712	3410	26912											
GPR171	29909	broad.mit.edu	37	chr3	150916564	150916564	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtttctgtagagctgtcGaattacaaggcaattggata	11	15	10	5	1	1	1	0	0	1	1	2	3	1	2	0	2	2	4	0	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:150916564G>A	ENST00000309180.5	-	3	840	c.610C>T	c.(610-612)Cga>Tga	p.R204*	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_013308.3	NP_037440.3	O14626	GP171_HUMAN	G protein-coupled receptor 171	204						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(4)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	15			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TAGAGCTGTCGAATTACAAGG	0.333													A	150916564	G	A	150916564	4	1	364	1	0	0	0	0	0	1	0	0	6722	1066	37	1	353	1	GPR171	3	150916564	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32846	150916564	47105866	3411	26913											
P2RY13	53829	broad.mit.edu	37	chr3	151046359	151046360	+	Frame_Shift_Ins	INS	-	-	T																															ccagatgaagattgagaccgINStttttgcaaaaacaggtttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151046359_151046360insT	ENST00000325602.5	-	2	503_504	c.484_485insA	c.(484-486)acgfs	p.T162fs	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron	NM_176894.2	NP_795713.2	Q9BPV8	P2Y13_HUMAN	purinergic receptor P2Y, G-protein coupled, 13	162						integral to membrane|plasma membrane				biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	14			LUSC - Lung squamous cell carcinoma(72;0.0189)|Lung(72;0.0278)			GATTGAGACCGTTTTTGCAAAA	0.406													T	151046360	-	T	151046359	7	5	364	1	0	1	1	0	0	0	0	0	11426	1145	40	0	583	0	P2RY13	3	151046359	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	129795	151046359	46976071	3412	26914											
MED12L	116931	broad.mit.edu	37	chr3	151101986	151101986	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacaagcgtgcatacatgAatttagtaaagaaactgaaa	20	8	8	5	1	0	4	0	2	0	2	0	4	0	4	0	0	5	2	0	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151101986A>G	ENST00000474524.1	+	33	4839	c.4801A>G	c.(4801-4803)Aat>Gat	p.N1601D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.N1461D	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1601					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGCATACATGAATTTAGTAAA	0.363													G	151101986	A	G	151101986	3	3	364	1	0	0	0	0	1	0	0	0	9504	246	9	3	4931	3	MED12L	3	151101986	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55627	151101986	46920444	3413	26915											
MED12L	116931	broad.mit.edu	37	chr3	151129147	151129147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggctggcagtgtggtcCtgtctcccagctataactcc	7	10	11	13	0	1	0	0	0	1	0	4	0	3	0	3	3	3	4	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151129147C>A	ENST00000474524.1	+	39	5925	c.5887C>A	c.(5887-5889)Ctg>Atg	p.L1963M	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1963	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAGTGTGGTCCTGTCTCCCAG	0.557													A	151129147	C	A	151129147	3	1	364	1	0	0	0	0	1	0	0	0	9504	680	24	4	6041	4	MED12L	3	151129147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27161	151129147	46893283	3414	26916											
IGSF10	285313	broad.mit.edu	37	chr3	151155345	151155345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttctaaatgtcggtcttCtcagcatttccagtacttct	8	17	6	10	1	4	0	1	0	4	0	7	1	5	0	1	1	2	2	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151155345C>A	ENST00000282466.3	-	6	7003	c.7004G>T	c.(7003-7005)aGa>aTa	p.R2335I	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2335					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TGTCGGTCTTCTCAGCATTTC	0.438													A	151155345	C	A	151155345	3	1	364	1	0	0	0	0	1	0	0	0	7655	913	32	4	871	4	IGSF10	3	151155345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26198	151155345	46867085	3415	26917											
IGSF10	285313	broad.mit.edu	37	chr3	151163978	151163978	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggtagtcaaggtattaGatggaatttgcatcacactt	12	12	11	6	1	2	1	2	0	0	1	2	3	2	2	0	3	2	3	0	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151163978G>T	ENST00000282466.3	-	4	3790	c.3791C>A	c.(3790-3792)tCt>tAt	p.S1264Y		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1264					cell differentiation|multicellular organismal development|ossification	extracellular region		p.S1264C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CAAGGTATTAGATGGAATTTG	0.458													T	151163978	G	T	151163978	3	4	364	1	0	0	0	0	1	0	0	0	7655	942	33	4	4140	4	IGSF10	3	151163978	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8633	151163978	46858452	3416	26918											
IGSF10	285313	broad.mit.edu	37	chr3	151165181	151165181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtagttttaatagcaGtagacagtttgaaatctgtg	11	15	11	4	0	1	2	0	1	1	1	1	2	1	2	0	1	1	6	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165181G>A	ENST00000282466.3	-	4	2587	c.2588C>T	c.(2587-2589)aCt>aTt	p.T863I		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	863					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TTTAATAGCAGTAGACAGTTT	0.383													A	151165181	G	A	151165181	3	1	364	1	0	0	0	0	1	0	0	0	7655	1029	36	2	5343	2	IGSF10	3	151165181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1203	151165181	46857249	3417	26919											
IGSF10	285313	broad.mit.edu	37	chr3	151165238	151165238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgtgaattcacaacaGgagagaattctgtgccataa	14	12	9	6	0	2	2	1	1	1	1	2	4	2	3	1	1	2	1	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165238G>T	ENST00000282466.3	-	4	2530	c.2531C>A	c.(2530-2532)cCt>cAt	p.P844H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	844					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTCACAACAGGAGAGAATTC	0.388													T	151165238	G	T	151165238	3	4	364	1	0	0	0	0	1	0	0	0	7655	1000	35	4	5400	4	IGSF10	3	151165238	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57	151165238	46857192	3418	26920											
IGSF10	285313	broad.mit.edu	37	chr3	151165712	151165712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccttaagatgagcaataGgattggactcatcaagtcca	13	10	9	9	0	2	2	2	1	0	1	4	4	4	4	2	2	1	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151165712G>T	ENST00000282466.3	-	4	2056	c.2057C>A	c.(2056-2058)cCt>cAt	p.P686H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	686					cell differentiation|multicellular organismal development|ossification	extracellular region		p.P686L(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATGAGCAATAGGATTGGACTC	0.463													T	151165712	G	T	151165712	3	4	364	1	0	0	0	0	1	0	0	0	7655	1000	35	4	5874	4	IGSF10	3	151165712	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	474	151165712	46856718	3419	26921											
AADACL2	344752	broad.mit.edu	37	chr3	151474940	151474940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcgtgagcttatatttcaCcaaggatgaagcacttccct	11	12	7	11	1	1	2	1	2	0	0	3	3	2	3	2	1	2	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151474940C>A	ENST00000356517.3	+	5	873	c.764C>A	c.(763-765)aCc>aAc	p.T255N	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	255						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTATATTTCACCAAGGATGAA	0.403													A	151474940	C	A	151474940	3	1	364	1	0	0	0	0	1	0	0	0	11	507	18	4	782	4	AADACL2	3	151474940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	309228	151474940	46547490	3420	26922											
AADACL2	344752	broad.mit.edu	37	chr3	151475308	151475308	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagctttatcattcatgActtcaccattttatttacgt	10	18	5	8	1	3	1	3	1	0	0	3	2	3	2	1	1	2	1	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151475308A>T	ENST00000356517.3	+	5	1241	c.1132A>T	c.(1132-1134)Act>Tct	p.T378S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	378						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			ATCATTCATGACTTCACCATT	0.338													T	151475308	A	T	151475308	3	4	364	1	0	0	0	0	1	0	0	0	11	275	10	5	1150	5	AADACL2	3	151475308	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	368	151475308	46547122	3421	26923											
SUCNR1	56670	broad.mit.edu	37	chr3	151598783	151598783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccatttgggttttagtaaCcttagagttactacccatac	10	14	8	9	0	0	1	0	0	0	1	0	1	0	1	3	2	4	3	3	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:151598783C>T	ENST00000362032.5	+	3	557	c.452C>T	c.(451-453)aCc>aTc	p.T151I	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTTTTAGTAACCTTAGAGTTA	0.378													T	151598783	C	T	151598783	3	4	364	1	0	0	0	0	1	0	0	0	15462	507	18	2	458	2	SUCNR1	3	151598783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123475	151598783	46423647	3422	26924											
P2RY1	5028	broad.mit.edu	37	chr3	152553954	152553954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccatgtgtaaactgcagaGgttcatctttcatgtgaacc	10	13	9	9	0	3	2	2	1	1	1	3	2	3	2	2	1	4	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152553954G>T	ENST00000305097.3	+	1	1219	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_002563.3	NP_002554.1	P47900	P2RY1_HUMAN	purinergic receptor P2Y, G-protein coupled, 1	128					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			AAACTGCAGAGGTTCATCTTT	0.517													T	152553954	G	T	152553954	3	4	364	1	0	0	0	0	1	0	0	0	11422	1000	35	4	385	4	P2RY1	3	152553954	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	955171	152553954	45468476	3423	26925											
RAP2B	5912	broad.mit.edu	37	chr3	152880811	152880811	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagcggtacgagcgcgtgcCcatgatcctggtgggcaaca	9	6	15	11	4	0	1	0	1	0	0	1	3	1	1	2	3	5	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:152880811C>T	ENST00000323534.2	+	1	783	c.329C>T	c.(328-330)cCc>cTc	p.P110L		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	110					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GAGCGCGTGCCCATGATCCTG	0.632													T	152880811	C	T	152880811	3	4	364	1	0	0	0	0	1	0	0	0	13129	623	22	2	331	2	RAP2B	3	152880811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326857	152880811	45141619	3424	26926											
DHX36	170506	broad.mit.edu	37	chr3	154024015	154024015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttcttacctctggagacGaatttgatatccagtactat	11	15	6	9	1	2	2	0	1	2	1	3	4	3	2	2	1	2	1	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154024015G>A	ENST00000496811.1	-	6	963	c.883C>T	c.(883-885)Cgt>Tgt	p.R295C	DHX36_ENST00000329463.5_Missense_Mutation_p.R295C|DHX36_ENST00000544526.1_Missense_Mutation_p.R295C|DHX36_ENST00000308361.6_Missense_Mutation_p.R295C	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	295	Helicase ATP-binding.					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTCTGGAGACGAATTTGATAT	0.348													A	154024015	G	A	154024015	3	1	364	1	0	0	0	0	1	0	0	0	4548	1058	37	1	2223	1	DHX36	3	154024015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1143204	154024015	43998415	3425	26927											
DHX36	170506	broad.mit.edu	37	chr3	154041998	154041999	+	Frame_Shift_Ins	INS	-	-	T																															tccttgttcttctgcccctgINSttttttcgcgtaccacatgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154041998_154041999insT	ENST00000496811.1	-	1	287_288	c.207_208insA	c.(205-210)aaacagfs	p.Q70fs	DHX36_ENST00000329463.5_Frame_Shift_Ins_p.Q70fs|DHX36_ENST00000544526.1_Frame_Shift_Ins_p.Q70fs|DHX36_ENST00000308361.6_Frame_Shift_Ins_p.Q70fs	NM_020865.2	NP_065916.2	Q9H2U1	DHX36_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 36	70						cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	35			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTCTGCCCCTGTTTTTTCGCGT	0.634													T	154041999	-	T	154041998	7	5	364	1	0	1	1	0	0	0	0	0	4548	1386	48	0	2918	0	DHX36	3	154041998	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	17983	154041998	43980432	3426	26928											
MME	4311	broad.mit.edu	37	chr3	154802023	154802023	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagccaaagaagaaacagCgatggactccactggagatc	17	4	10	10	1	0	3	0	0	0	3	2	6	1	4	2	2	3	0	2	2	4	0	rs150836510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154802023C>T	ENST00000460393.1	+	2	187	c.67C>T	c.(67-69)Cga>Tga	p.R23*	MME_ENST00000462745.1_Nonsense_Mutation_p.R23*|MME_ENST00000492661.1_Nonsense_Mutation_p.R23*|MME_ENST00000493237.1_Nonsense_Mutation_p.R23*|MME_ENST00000382989.3_Nonsense_Mutation_p.R23*|MME_ENST00000360490.2_Nonsense_Mutation_p.R23*	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	23					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R23*(1)		central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	GAAGAAACAGCGATGGACTCC	0.433													T	154802023	C	T	154802023	4	4	364	1	0	0	0	0	0	1	0	0	9720	760	27	1	69	1	MME	3	154802023	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	760025	154802023	43220407	3427	26929											
MME	4311	broad.mit.edu	37	chr3	154859820	154859820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaaatgaaatcatgtcaaCtgtgaatattagtattacaa	18	12	5	6	0	2	2	2	2	0	0	2	2	2	2	0	0	2	1	0	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:154859820C>T	ENST00000460393.1	+	11	1118	c.998C>T	c.(997-999)aCt>aTt	p.T333I	MME_ENST00000462745.1_Missense_Mutation_p.T333I|MME_ENST00000492661.1_Missense_Mutation_p.T333I|MME_ENST00000493237.1_Missense_Mutation_p.T333I|MME_ENST00000360490.2_Missense_Mutation_p.T333I	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	333					cell-cell signaling|proteolysis	integral to plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)	ATCATGTCAACTGTGAATATT	0.363													T	154859820	C	T	154859820	3	4	364	1	0	0	0	0	1	0	0	0	9720	565	20	2	1036	2	MME	3	154859820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57797	154859820	43162610	3428	26930											
PLCH1	23007	broad.mit.edu	37	chr3	155199620	155199620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtctctttacagtagcCgtttctcaaacctctttgaa	9	14	8	10	1	3	1	1	1	3	0	5	2	3	1	2	1	3	2	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155199620C>T	ENST00000460012.1	-	23	4462	c.4105G>A	c.(4105-4107)Ggc>Agc	p.G1369S	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Missense_Mutation_p.G1369S|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.G1407S|PLCH1_ENST00000414191.1_Missense_Mutation_p.G1369S			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1407					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)			TTACAGTAGCCGTTTCTCAAA	0.413													T	155199620	C	T	155199620	3	4	364	1	0	0	0	0	1	0	0	0	12114	652	23	1	866	1	PLCH1	3	155199620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339800	155199620	42822810	3429	26931											
PLCH1	23007	broad.mit.edu	37	chr3	155210521	155210521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcataggcaacttacctcGcctcgatctccaaacatgga	12	9	7	13	2	2	0	1	0	1	0	5	2	2	1	3	2	3	1	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155210521G>A	ENST00000460012.1	-	18	2571	c.2214C>T	c.(2212-2214)ggC>ggT	p.G738G	PLCH1_ENST00000447496.2_Silent_p.G756G|PLCH1_ENST00000334686.6_Silent_p.G738G|PLCH1_ENST00000494598.1_Silent_p.G756G|PLCH1_ENST00000340059.7_Silent_p.G756G|PLCH1_ENST00000414191.1_Silent_p.G738G			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	756	C2.				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)			AACTTACCTCGCCTCGATCTC	0.438													A	155210521	G	A	155210521	2	1	364	1	0	0	0	0	0	0	0	1	12114	1074	38	1		1	PLCH1	3	155210521	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10901	155210521	42811909	3430	26932											
PLCH1	23007	broad.mit.edu	37	chr3	155215116	155215116	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatccttaccgtcatcCacaatgtcctgagcggccac	8	10	6	17	2	2	1	1	1	1	0	6	1	5	1	6	1	2	0	6	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155215116C>A	ENST00000460012.1	-	15	2154	c.1797G>T	c.(1795-1797)gtG>gtT	p.V599V	PLCH1_ENST00000447496.2_Silent_p.V617V|PLCH1_ENST00000334686.6_Silent_p.V599V|PLCH1_ENST00000494598.1_Silent_p.V617V|PLCH1_ENST00000340059.7_Silent_p.V617V|PLCH1_ENST00000414191.1_Silent_p.V599V			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	617					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)			TACCGTCATCCACAATGTCCT	0.413													A	155215116	C	A	155215116	2	1	364	1	0	0	0	0	0	0	0	1	12114	581	21	4		4	PLCH1	3	155215116	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4595	155215116	42807314	3431	26933											
PLCH1	23007	broad.mit.edu	37	chr3	155311772	155311772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagggagtcttcatcaCtgatgccagccatcaggtac	10	9	11	11	0	4	1	3	1	1	0	4	2	4	2	2	3	3	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155311772C>G	ENST00000460012.1	-	4	695	c.338G>C	c.(337-339)aGt>aCt	p.S113T	PLCH1_ENST00000447496.2_Missense_Mutation_p.S131T|PLCH1_ENST00000334686.6_Missense_Mutation_p.S113T|PLCH1_ENST00000494598.1_Missense_Mutation_p.S131T|PLCH1_ENST00000340059.7_Missense_Mutation_p.S131T|PLCH1_ENST00000414191.1_Missense_Mutation_p.S113T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	131	PH.				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)			GTCTTCATCACTGATGCCAGC	0.527													G	155311772	C	G	155311772	3	3	364	1	0	0	0	0	1	0	0	0	12114	565	20	4	4788	4	PLCH1	3	155311772	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96656	155311772	42710658	3432	26934											
SLC33A1	9197	broad.mit.edu	37	chr3	155560396	155560396	+	Frame_Shift_Del	DEL	A	A	-																															ttaaaaatacagttccccagAaaaaaaggaaatctgaaaat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:155560396delA	ENST00000392845.3	-	2	1168	c.788delT	c.(787-789)ttcfs	p.F263fs	SLC33A1_ENST00000359479.3_Frame_Shift_Del_p.F263fs			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1						cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTTCCCCAGAAAAAAAGGAA	0.244													-	155560396	A	-	155560396	7	5	364	1	0	1	0	1	0	0	0	0	14660	246	9	0	881	0	SLC33A1	3	155560396	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	248624	155560396	42462034	3433	26935											
SSR3	6747	broad.mit.edu	37	chr3	156266708	156266708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacctttcatctttctcCttccgagacatctttctatt	8	18	2	13	1	6	1	2	0	4	1	8	2	7	1	3	0	1	0	3	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156266708C>T	ENST00000265044.2	-	3	439	c.345G>A	c.(343-345)aaG>aaA	p.K115K	SSR3_ENST00000467789.1_Silent_p.K115K|SSR3_ENST00000463503.1_Silent_p.K63K|SSR3_ENST00000476217.1_Silent_p.K115K|SSR3_ENST00000496050.1_Silent_p.K63K|SSR3_ENST00000478842.1_5'UTR	NM_007107.3	NP_009038.1	Q9UNL2	SSRG_HUMAN	signal sequence receptor, gamma (translocon-associated protein gamma)	115					cotranslational protein targeting to membrane	integral to endoplasmic reticulum membrane|microsome|Sec61 translocon complex	protein binding|signal sequence binding			endometrium(1)|prostate(2)	3			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			CATCTTTCTCCTTCCGAGACA	0.363													T	156266708	C	T	156266708	2	4	364	1	0	0	0	0	0	0	0	1	15288	680	24	2		2	SSR3	3	156266708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706312	156266708	41755722	3434	26936											
TIPARP	25976	broad.mit.edu	37	chr3	156411977	156411977	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatggagagagtatcccgaGgtatttacagattctttgtt	10	14	12	5	1	1	2	0	0	1	2	2	6	2	4	1	3	1	3	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156411977G>T	ENST00000461166.1	+	3	1674	c.1086G>T	c.(1084-1086)gaG>gaT	p.E362D	TIPARP_ENST00000542783.1_Splice_Site_p.E362D|TIPARP_ENST00000295924.7_Splice_Site_p.E362D|TIPARP_ENST00000486483.1_Splice_Site_p.E362D	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	362	WWE.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGTATCCCGAGGTATTTACAG	0.373													T	156411977	G	T	156411977	5	4	364	1	0	0	0	0	0	0	1	0	16024	1014	35	4	1092	4	TIPARP	3	156411977	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145269	156411977	41610453	3435	26937											
TIPARP	25976	broad.mit.edu	37	chr3	156422529	156422529	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacaggataataaatgagaGacatttatttcatggaacat	17	12	8	4	0	1	3	1	2	0	1	1	6	1	5	0	2	1	0	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422529G>C	ENST00000461166.1	+	6	2171	c.1583G>C	c.(1582-1584)aGa>aCa	p.R528T	TIPARP_ENST00000542783.1_Missense_Mutation_p.R528T|TIPARP_ENST00000295924.7_Missense_Mutation_p.R528T|TIPARP_ENST00000486483.1_Missense_Mutation_p.R528T	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	528	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ATAAATGAGAGACATTTATTT	0.388													C	156422529	G	C	156422529	3	2	364	1	0	0	0	0	1	0	0	0	16024	942	33	4	1601	4	TIPARP	3	156422529	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10552	156422529	41599901	3436	26938											
TIPARP	25976	broad.mit.edu	37	chr3	156422836	156422836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatttctttgagcctcaGatttttgtcatttttaatga	10	20	6	5	0	3	3	2	2	1	1	3	4	3	3	1	0	1	0	1	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156422836G>T	ENST00000461166.1	+	6	2478	c.1890G>T	c.(1888-1890)caG>caT	p.Q630H	TIPARP_ENST00000542783.1_Missense_Mutation_p.Q630H|TIPARP_ENST00000295924.7_Missense_Mutation_p.Q630H|TIPARP_ENST00000486483.1_Missense_Mutation_p.Q630H	NM_001184717.1	NP_001171646.1	Q7Z3E1	PARPT_HUMAN	TCDD-inducible poly(ADP-ribose) polymerase	630	PARP catalytic.						NAD+ ADP-ribosyltransferase activity|nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			ttgagcctcagatttttgtca	0.413													T	156422836	G	T	156422836	3	4	364	1	0	0	0	0	1	0	0	0	16024	933	33	4	1908	4	TIPARP	3	156422836	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307	156422836	41599594	3437	26939											
CCNL1	57018	broad.mit.edu	37	chr3	156867624	156867624	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattctaaatacatcttaCatggcttggaggctggagaa	13	13	9	6	0	2	1	0	0	2	1	2	3	2	2	0	4	2	2	0	4	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:156867624C>T	ENST00000295926.3	-	8	1140		c.e8+1		CCNL1_ENST00000461804.1_Splice_Site	NM_020307.2	NP_064703.1	Q9UK58	CCNL1_HUMAN	cyclin L1						regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nuclear speck	protein kinase binding			NS(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|stomach(1)	18			LUSC - Lung squamous cell carcinoma(72;0.0295)|Lung(72;0.0308)			ATACATCTTACATGGCTTGGA	0.398													T	156867624	C	T	156867624	5	4	364	1	0	0	0	0	0	0	1	0	2961	492	17	2	574	2	CCNL1	3	156867624	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444788	156867624	41154806	3438	26940											
SHOX2	6474	broad.mit.edu	37	chr3	157815991	157815991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggtgctgggaacatcatgTagggcgcgtgcgcggccagg	6	6	19	10	5	1	0	1	0	0	0	1	1	1	1	1	5	3	2	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157815991T>C	ENST00000490689.2	-	5	1931	c.398A>G	c.(397-399)tAc>tGc	p.Y133C	SHOX2_ENST00000441443.2_Missense_Mutation_p.Y133C|SHOX2_ENST00000425436.3_Missense_Mutation_p.Y274C|SHOX2_ENST00000483851.2_Missense_Mutation_p.Y262C|SHOX2_ENST00000389589.4_Missense_Mutation_p.Y298C			O60902	SHOX2_HUMAN	short stature homeobox 2	274					nervous system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(1)|liver(2)|lung(10)|skin(3)|upper_aerodigestive_tract(1)	20			Lung(72;0.00318)|LUSC - Lung squamous cell carcinoma(72;0.0043)			GAACATCATGTAGGGCGCGTG	0.706													C	157815991	T	C	157815991	3	2	364	1	0	0	0	0	1	0	0	0	14383	1638	57	3	178	3	SHOX2	3	157815991	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	948367	157815991	40206439	3439	26941											
RSRC1	51319	broad.mit.edu	37	chr3	157841751	157841751	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaatcctatagagttcaGaggtctaggtcaaaaagcag	15	8	12	6	0	3	2	2	0	1	2	4	3	4	3	1	3	1	2	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:157841751G>A	ENST00000464171.1	+	3	416	c.291G>A	c.(289-291)caG>caA	p.Q97Q	RSRC1_ENST00000295930.3_Silent_p.Q97Q|RSRC1_ENST00000475278.2_Silent_p.Q97Q|RSRC1_ENST00000480820.1_Silent_p.Q97Q|RSRC1_ENST00000312179.6_Silent_p.Q97Q	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	97	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			ATAGAGTTCAGAGGTCTAGGT	0.413													A	157841751	G	A	157841751	2	1	364	1	0	0	0	0	0	0	0	1	13805	933	33	2		2	RSRC1	3	157841751	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25760	157841751	40180679	3440	26942											
RSRC1	51319	broad.mit.edu	37	chr3	158261971	158261971	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttcttttcttatttcaGttatttatcgagaaagctga	9	21	5	6	1	3	2	1	1	2	1	4	3	3	2	0	0	1	2	0	0	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158261971G>A	ENST00000464171.1	+	9	863		c.e9-1		RSRC1_ENST00000295930.3_Splice_Site|RSRC1_ENST00000475278.2_Splice_Site|RSRC1_ENST00000480820.1_Splice_Site|RSRC1_ENST00000312179.6_Splice_Site	NM_001271834.1	NP_001258763.1	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1						nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			TCTTATTTCAGTTATTTATCG	0.343													A	158261971	G	A	158261971	5	1	364	1	0	0	0	0	0	0	1	0	13805	1043	36	2	946	2	RSRC1	3	158261971	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420220	158261971	39760459	3441	26943											
GFM1	85476	broad.mit.edu	37	chr3	158366903	158366903	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaattttaaaggtattgtaGatcttattgaggaacgagcc	13	14	10	4	1	1	2	0	1	1	1	1	4	1	3	1	2	2	3	1	2	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158366903G>T	ENST00000486715.1	+	5	1003	c.646G>T	c.(646-648)Gat>Tat	p.D216Y	GFM1_ENST00000264263.5_Missense_Mutation_p.D216Y|GFM1_ENST00000478576.1_Missense_Mutation_p.D216Y	NM_024996.5	NP_079272.4	Q96RP9	EFGM_HUMAN	G elongation factor, mitochondrial 1	216					mitochondrial translational elongation	mitochondrion	GTP binding|GTPase activity|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|urinary_tract(2)	22			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			AGGTATTGTAGATCTTATTGA	0.294													T	158366903	G	T	158366903	3	4	364	1	0	0	0	0	1	0	0	0	6397	942	33	4	664	4	GFM1	3	158366903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104932	158366903	39655527	3442	26944											
LXN	56925	broad.mit.edu	37	chr3	158384464	158384464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacttcctttggcagacGgctattatgttttactttag	7	19	8	7	1	0	1	0	0	0	1	1	1	1	1	1	2	2	4	1	2	5	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158384464G>A	ENST00000264265.3	-	6	854	c.640C>T	c.(640-642)Cgt>Tgt	p.R214C	GFM1_ENST00000264263.5_Intron|GFM1_ENST00000478576.1_Intron|GFM1_ENST00000486715.1_Intron	NM_020169.3	NP_064554.3	Q9BS40	LXN_HUMAN	latexin	214						cytoplasm	metalloendopeptidase inhibitor activity|protein binding			breast(2)|endometrium(1)|kidney(2)	5			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)			TTTGGCAGACGGCTATTATGT	0.388													A	158384464	G	A	158384464	3	1	364	1	0	0	0	0	1	0	0	0	9160	1116	39	1	32	1	LXN	3	158384464	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17561	158384464	39637966	3443	26945											
RARRES1	5918	broad.mit.edu	37	chr3	158415601	158415601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaccagaccaagtgaatgcGacagggaattatttcctagg	13	9	11	8	1	0	2	0	1	0	1	1	4	1	3	3	2	2	1	3	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:158415601G>A	ENST00000237696.5	-	6	1031	c.751C>T	c.(751-753)Cgc>Tgc	p.R251C		NM_206963.1	NP_996846.1	P49788	TIG1_HUMAN	retinoic acid receptor responder (tazarotene induced) 1	251					negative regulation of cell proliferation	integral to membrane				NS(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9			Lung(72;0.00309)|LUSC - Lung squamous cell carcinoma(72;0.0043)		Tretinoin(DB00755)	AAGTGAATGCGACAGGGAATT	0.378													A	158415601	G	A	158415601	3	1	364	1	0	0	0	0	1	0	0	0	13143	1058	37	1	137	1	RARRES1	3	158415601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31137	158415601	39606829	3444	26946											
SMC4	10051	broad.mit.edu	37	chr3	160148851	160148851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagatccagaaagaacatcGcaatctgcttcaagaattaa	18	8	7	8	1	2	4	1	0	1	4	4	5	3	4	1	0	2	2	1	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160148851G>A	ENST00000357388.3	+	20	3423	c.2972G>A	c.(2971-2973)cGc>cAc	p.R991H	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.R966H|SMC4_ENST00000462787.1_Intron|SMC4_ENST00000360111.2_Intron|SMC4_ENST00000344722.5_Missense_Mutation_p.R991H	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	991					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AAAGAACATCGCAATCTGCTT	0.338													A	160148851	G	A	160148851	3	1	364	1	0	0	0	0	1	0	0	0	14879	1087	38	1	3046	1	SMC4	3	160148851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1733250	160148851	37873579	3445	26947											
SMC4	10051	broad.mit.edu	37	chr3	160149499	160149499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcggttctaagcccagaGgatcttgaagcgatcaagaa	13	10	10	8	2	3	3	1	1	2	2	4	5	3	4	1	2	2	1	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160149499G>T	ENST00000357388.3	+	21	3634	c.3183G>T	c.(3181-3183)gaG>gaT	p.E1061D	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000469762.1_Missense_Mutation_p.E1036D|SMC4_ENST00000462787.1_Missense_Mutation_p.E1003D|SMC4_ENST00000360111.2_Missense_Mutation_p.E1003D|SMC4_ENST00000344722.5_Missense_Mutation_p.E1061D	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1061					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TAAGCCCAGAGGATCTTGAAG	0.388													T	160149499	G	T	160149499	3	4	364	1	0	0	0	0	1	0	0	0	14879	991	35	4	3261	4	SMC4	3	160149499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648	160149499	37872931	3446	26948											
TRIM59	286827	broad.mit.edu	37	chr3	160156009	160156009	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaaaaattcaacttccttTtcatccttaccaggccagga	12	14	4	11	0	2	0	2	0	0	0	4	1	4	1	4	2	2	0	4	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160156009T>G	ENST00000309784.4	-	3	1148	c.963A>C	c.(961-963)gaA>gaC	p.E321D	RP11-432B6.3_ENST00000483754.1_Intron|TRIM59_ENST00000543469.1_Intron	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	321						integral to membrane|intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CAACTTCCTTTTCATCCTTAC	0.318													G	160156009	T	G	160156009	3	3	364	1	0	0	0	0	1	0	0	0	16633	1838	64	5	252	5	TRIM59	3	160156009	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6510	160156009	37866421	3447	26949											
ARL14	80117	broad.mit.edu	37	chr3	160395143	160395143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaggctgaaatgggttcGctgggttctaaaaatccgca	14	9	11	7	2	1	1	0	1	1	0	3	1	2	1	1	3	0	5	1	3	6	3	rs144011121		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160395143G>A	ENST00000320767.2	+	1	196	c.9G>A	c.(7-9)tcG>tcA	p.S3S		NM_025047.2	NP_079323.1	Q8N4G2	ARL14_HUMAN	ADP-ribosylation factor-like 14	3					small GTPase mediated signal transduction	intracellular	GTP binding			lung(6)	6			Lung(72;7.02e-05)|LUSC - Lung squamous cell carcinoma(72;7.23e-05)			AAATGGGTTCGCTGGGTTCTA	0.393													A	160395143	G	A	160395143	2	1	364	1	0	0	0	0	0	0	0	1	933	1074	38	1		1	ARL14	3	160395143	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239134	160395143	37627287	3448	26950											
NMD3	51068	broad.mit.edu	37	chr3	160945126	160945126	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatcaaagcccctctgAgtaaggtaagttaaacagct	18	8	7	8	0	2	1	1	1	1	0	2	1	2	1	2	1	3	4	2	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:160945126A>C	ENST00000460469.1	+	3	726	c.271A>C	c.(271-273)Agt>Cgt	p.S91R	NMD3_ENST00000351193.2_Missense_Mutation_p.S91R|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.S91R			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	91					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AGCCCCTCTGAGTAAGGTAAG	0.348													C	160945126	A	C	160945126	3	2	364	1	0	0	0	0	1	0	0	0	10564	304	11	5	281	5	NMD3	3	160945126	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	549983	160945126	37077304	3449	26951											
OTOL1	131149	broad.mit.edu	37	chr3	161221326	161221326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctagagtgccccggtcgGctttcagcgctggtttgtca	4	12	14	11	3	2	1	2	0	0	1	3	1	2	1	2	4	2	4	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:161221326G>A	ENST00000327928.4	+	4	1030	c.1030G>A	c.(1030-1032)Gct>Act	p.A344T		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	344	C1q.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						GCCCCGGTCGGCTTTCAGCGC	0.522													A	161221326	G	A	161221326	3	1	364	1	0	0	0	0	1	0	0	0	11380	1203	42	2	1044	2	OTOL1	3	161221326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276200	161221326	36801104	3450	26952											
SI	6476	broad.mit.edu	37	chr3	164700137	164700137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccccatacatgaagggatCcaagcctcgtttcactttta	10	12	6	13	1	1	1	1	1	0	0	4	2	3	2	4	1	2	1	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164700137C>A	ENST00000264382.3	-	47	5371	c.5309G>T	c.(5308-5310)gGa>gTa	p.G1770V		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1770	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGAAGGGATCCAAGCCTCGT	0.343										HNSCC(35;0.089)			A	164700137	C	A	164700137	3	1	364	1	0	0	0	0	1	0	0	0	14391	855	30	4	182	4	SI	3	164700137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3478811	164700137	33322293	3451	26953											
SI	6476	broad.mit.edu	37	chr3	164750400	164750400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgtaacactgtctgtcaaCccaaggatttttacagtctg	10	14	7	10	0	4	0	1	0	3	0	4	1	4	1	1	1	3	1	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164750400C>T	ENST00000264382.3	-	24	2708	c.2646G>A	c.(2644-2646)ggG>ggA	p.G882G		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	882	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TGTCTGTCAACCCAAGGATTT	0.358										HNSCC(35;0.089)			T	164750400	C	T	164750400	2	4	364	1	0	0	0	0	0	0	0	1	14391	494	18	2		2	SI	3	164750400	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50263	164750400	33272030	3452	26954											
SI	6476	broad.mit.edu	37	chr3	164776843	164776843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatatgttgttccattggCacgtcgacctatggaaattg	9	14	10	8	2	0	0	0	0	0	0	2	2	1	1	2	2	1	4	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164776843C>T	ENST00000264382.3	-	12	1368	c.1306G>A	c.(1306-1308)Gcc>Acc	p.A436T		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	436	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTTCCATTGGCACGTCGACCT	0.363										HNSCC(35;0.089)			T	164776843	C	T	164776843	3	4	364	1	0	0	0	0	1	0	0	0	14391	710	25	2	4325	2	SI	3	164776843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26443	164776843	33245587	3453	26955											
SLITRK3	22865	broad.mit.edu	37	chr3	164905746	164905746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggcttggtttgaagtttgGcccttaactcgaggtaatca	8	13	11	9	2	1	1	1	1	0	0	2	2	1	1	2	4	1	4	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164905746G>A	ENST00000475390.1	-	2	3316	c.2873C>T	c.(2872-2874)gCc>gTc	p.A958V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.A958V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	958						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TTGAAGTTTGGCCCTTAACTC	0.428										HNSCC(40;0.11)			A	164905746	G	A	164905746	3	1	364	1	0	0	0	0	1	0	0	0	14838	1203	42	2	64	2	SLITRK3	3	164905746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128903	164905746	33116684	3454	26956											
SLITRK3	22865	broad.mit.edu	37	chr3	164908014	164908014	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacctatttccacgtaggTccaaatgggttaaagagaca	14	11	8	8	1	0	1	0	0	0	1	2	2	2	1	3	2	1	2	3	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:164908014T>C	ENST00000475390.1	-	2	1048	c.605A>G	c.(604-606)gAc>gGc	p.D202G	SLITRK3_ENST00000241274.3_Missense_Mutation_p.D202G			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	202						integral to membrane		p.D202G(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCCACGTAGGTCCAAATGGGT	0.408										HNSCC(40;0.11)			C	164908014	T	C	164908014	3	2	364	1	0	0	0	0	1	0	0	0	14838	1667	58	3	2332	3	SLITRK3	3	164908014	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2268	164908014	33114416	3455	26957											
SERPINI2	5276	broad.mit.edu	37	chr3	167189515	167189515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatgagataaggaaacCtcttgataaagatccactgc	14	11	7	9	0	1	3	0	2	1	2	3	5	3	4	3	1	2	0	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167189515C>A	ENST00000476257.1	-	3	406	c.108G>T	c.(106-108)gaG>gaT	p.E36D	SERPINI2_ENST00000465031.1_5'UTR|SERPINI2_ENST00000471111.1_Missense_Mutation_p.E36D|SERPINI2_ENST00000264677.4_Missense_Mutation_p.E36D|SERPINI2_ENST00000461846.1_Missense_Mutation_p.E36D			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	36					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						ATAAGGAAACCTCTTGATAAA	0.398													A	167189515	C	A	167189515	3	1	364	1	0	0	0	0	1	0	0	0	14212	680	24	4	1141	4	SERPINI2	3	167189515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2281501	167189515	30832915	3456	26958											
WDR49	151790	broad.mit.edu	37	chr3	167245662	167245662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcacacaaatactgcaGtctgcagaggaggagataat	15	7	10	9	0	2	2	1	0	1	2	2	4	2	3	1	2	3	2	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245662G>C	ENST00000308378.3	-	11	1799	c.1494C>G	c.(1492-1494)gaC>gaG	p.D498E	WDR49_ENST00000476376.1_Missense_Mutation_p.D323E|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	498										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AAATACTGCAGTCTGCAGAGG	0.403													C	167245662	G	C	167245662	3	2	364	1	0	0	0	0	1	0	0	0	17404	1020	36	4	619	4	WDR49	3	167245662	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56147	167245662	30776768	3457	26959											
WDR49	151790	broad.mit.edu	37	chr3	167245747	167245747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcctcatgaggttggaatGatcttatcagagttggggcc	8	12	14	7	0	3	3	2	2	1	1	4	4	4	4	2	5	0	2	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167245747G>A	ENST00000308378.3	-	11	1714	c.1409C>T	c.(1408-1410)tCa>tTa	p.S470L	WDR49_ENST00000476376.1_Missense_Mutation_p.S295L|WDR49_ENST00000453925.2_Intron|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	470										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						AGGTTGGAATGATCTTATCAG	0.403													A	167245747	G	A	167245747	3	1	364	1	0	0	0	0	1	0	0	0	17404	1294	45	2	704	2	WDR49	3	167245747	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85	167245747	30776683	3458	26960											
WDR49	151790	broad.mit.edu	37	chr3	167248987	167248987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtcaatctcaaagttgcGgactcccgtggtagaatggt	10	11	12	8	2	2	1	2	0	1	1	4	2	3	2	1	3	1	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167248987G>A	ENST00000308378.3	-	9	1383	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	WDR49_ENST00000476376.1_Missense_Mutation_p.R185C|WDR49_ENST00000453925.2_Missense_Mutation_p.R424C|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	360										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TCAAAGTTGCGGACTCCCGTG	0.438													A	167248987	G	A	167248987	3	1	364	1	0	0	0	0	1	0	0	0	17404	1116	39	1	1043	1	WDR49	3	167248987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3240	167248987	30773443	3459	26961											
SERPINI1	5274	broad.mit.edu	37	chr3	167510432	167510432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgctgccacttatctggCcctcattaatgctgtctatt	7	16	7	11	0	3	1	1	1	2	0	3	1	3	1	2	1	3	2	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:167510432C>T	ENST00000295777.5	+	4	967	c.536C>T	c.(535-537)gCc>gTc	p.A179V	SERPINI1_ENST00000446050.2_Missense_Mutation_p.A179V	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	179					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						ACTTATCTGGCCCTCATTAAT	0.368													T	167510432	C	T	167510432	3	4	364	1	0	0	0	0	1	0	0	0	14211	739	26	2	546	2	SERPINI1	3	167510432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261445	167510432	30511998	3460	26962											
MECOM	2122	broad.mit.edu	37	chr3	168802722	168802722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggcttatggactggataGcactggattccgccgcagcc	7	9	13	12	3	0	0	0	0	0	0	1	3	1	3	3	4	2	3	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168802722G>A	ENST00000464456.1	-	15	4304	c.3104C>T	c.(3103-3105)gCt>gTt	p.A1035V	MECOM_ENST00000264674.3_Missense_Mutation_p.A1109V|MECOM_ENST00000468789.1_Missense_Mutation_p.A1044V|MECOM_ENST00000392736.3_Missense_Mutation_p.A1044V|MECOM_ENST00000460814.1_3'UTR|MECOM_ENST00000494292.1_Missense_Mutation_p.A1223V|MECOM_ENST00000472280.1_Missense_Mutation_p.A1045V|MECOM_ENST00000433243.2_Missense_Mutation_p.A1045V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GGACTGGATAGCACTGGATTC	0.498													A	168802722	G	A	168802722	3	1	364	1	0	0	0	0	1	0	0	0	9497	971	34	2	28	2	MECOM	3	168802722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1292290	168802722	29219708	3461	26963											
MECOM	2122	broad.mit.edu	37	chr3	168834323	168834323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatccatagctggggttccaGgaagtgaaatgccttggcca	10	10	12	9	0	0	1	0	1	0	0	2	2	2	2	4	4	2	2	4	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834323G>T	ENST00000464456.1	-	7	1973	c.773C>A	c.(772-774)cCt>cAt	p.P258H	MECOM_ENST00000264674.3_Missense_Mutation_p.P323H|MECOM_ENST00000468789.1_Missense_Mutation_p.P258H|MECOM_ENST00000392736.3_Missense_Mutation_p.P258H|MECOM_ENST00000460814.1_Missense_Mutation_p.P258H|MECOM_ENST00000494292.1_Missense_Mutation_p.P446H|MECOM_ENST00000472280.1_Missense_Mutation_p.P259H|MECOM_ENST00000433243.2_Missense_Mutation_p.P259H	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TGGGGTTCCAGGAAGTGAAAT	0.473													T	168834323	G	T	168834323	3	4	364	1	0	0	0	0	1	0	0	0	9497	1000	35	4	2422	4	MECOM	3	168834323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31601	168834323	29188107	3462	26964											
MECOM	2122	broad.mit.edu	37	chr3	168834464	168834464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatttgggttctgcaatcaGcatgcatgcgcttatgacgg	8	13	12	8	2	2	2	1	2	1	0	2	2	2	2	0	2	4	5	0	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168834464G>A	ENST00000464456.1	-	7	1832	c.632C>T	c.(631-633)gCt>gTt	p.A211V	MECOM_ENST00000264674.3_Missense_Mutation_p.A276V|MECOM_ENST00000468789.1_Missense_Mutation_p.A211V|MECOM_ENST00000392736.3_Missense_Mutation_p.A211V|MECOM_ENST00000460814.1_Missense_Mutation_p.A211V|MECOM_ENST00000494292.1_Missense_Mutation_p.A399V|MECOM_ENST00000472280.1_Missense_Mutation_p.A212V|MECOM_ENST00000433243.2_Missense_Mutation_p.A212V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCTGCAATCAGCATGCATGCG	0.418													A	168834464	G	A	168834464	3	1	364	1	0	0	0	0	1	0	0	0	9497	971	34	2	2563	2	MECOM	3	168834464	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141	168834464	29187966	3463	26965											
MECOM	2122	broad.mit.edu	37	chr3	168840452	168840452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacttccagttaaatgcCttgggacactgatcacactt	10	13	8	10	0	1	1	1	1	0	0	2	3	2	3	2	2	1	1	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168840452C>A	ENST00000464456.1	-	5	1530	c.330G>T	c.(328-330)aaG>aaT	p.K110N	MECOM_ENST00000264674.3_Missense_Mutation_p.K174N|MECOM_ENST00000468789.1_Missense_Mutation_p.K110N|MECOM_ENST00000392736.3_Missense_Mutation_p.K110N|MECOM_ENST00000460814.1_Missense_Mutation_p.K110N|MECOM_ENST00000494292.1_Missense_Mutation_p.K298N|MECOM_ENST00000472280.1_Missense_Mutation_p.K110N|MECOM_ENST00000433243.2_Missense_Mutation_p.K110N	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						AGTTAAATGCCTTGGGACACT	0.398													A	168840452	C	A	168840452	3	1	364	1	0	0	0	0	1	0	0	0	9497	680	24	4	2876	4	MECOM	3	168840452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5988	168840452	29181978	3464	26966											
MECOM	2122	broad.mit.edu	37	chr3	168849257	168849257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcatggggatagtcttcGctcttcatgaacagcagaag	10	12	11	8	1	4	2	2	1	2	1	5	3	4	3	0	2	2	3	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:168849257G>A	ENST00000464456.1	-	3	1209	c.9C>T	c.(7-9)agC>agT	p.S3S	MECOM_ENST00000264674.3_Silent_p.S67S|MECOM_ENST00000468789.1_Silent_p.S3S|MECOM_ENST00000392736.3_Silent_p.S3S|MECOM_ENST00000460814.1_Silent_p.S3S|MECOM_ENST00000494292.1_Silent_p.S191S|MECOM_ENST00000472280.1_Silent_p.S3S|MECOM_ENST00000433243.2_Silent_p.S3S	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GATAGTCTTCGCTCTTCATGA	0.458													A	168849257	G	A	168849257	2	1	364	1	0	0	0	0	0	0	0	1	9497	1078	38	1		1	MECOM	3	168849257	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8805	168849257	29173173	3465	26967											
LRRC34	151827	broad.mit.edu	37	chr3	169525279	169525279	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatatccaacatccaaacCtgaagcacagatgaatagaa	18	8	6	9	0	0	4	0	2	0	2	2	4	2	4	3	0	3	2	3	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169525279C>A	ENST00000522526.2	-	4	817		c.e4-1		LRRC34_ENST00000316515.7_Splice_Site|LRRC34_ENST00000524327.1_Splice_Site|LRRC34_ENST00000522830.1_Splice_Site|LRRC34_ENST00000446859.1_Splice_Site			Q8IZ02	LRC34_HUMAN	leucine rich repeat containing 34											breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(2)	10	all_cancers(22;4.12e-22)|all_epithelial(15;7.54e-27)|all_lung(20;1.63e-16)|Lung NSC(18;6.92e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00676)			ACATCCAAACCTGAAGCACAG	0.333													A	169525279	C	A	169525279	5	1	364	1	0	0	0	0	0	0	1	0	9059	695	24	4	1069	4	LRRC34	3	169525279	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	676022	169525279	28497151	3466	26968											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540229	169540229	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagggagatctacctgaagCgaaaccagtttgaagttttc	12	11	11	7	1	1	4	0	3	1	1	2	6	1	4	2	1	3	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540229C>T	ENST00000340806.6	+	1	520	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	174										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						CTACCTGAAGCGAAACCAGTT	0.507													T	169540229	C	T	169540229	4	4	364	1	0	0	0	0	0	1	0	0	9101	760	27	1	522	1	LRRIQ4	3	169540229	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14950	169540229	28482201	3467	26969											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540252	169540252	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccagtttgaagttttcccCcaggagctctgtgttctcta	8	14	8	11	0	2	1	0	1	2	0	4	2	3	2	3	1	2	4	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169540252C>T	ENST00000340806.6	+	1	543	c.543C>T	c.(541-543)ccC>ccT	p.P181P		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	181										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AAGTTTTCCCCCAGGAGCTCT	0.512													T	169540252	C	T	169540252	2	4	364	1	0	0	0	0	0	0	0	1	9101	610	22	2		2	LRRIQ4	3	169540252	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	169540252	28482178	3468	26970											
LRRC31	79782	broad.mit.edu	37	chr3	169574164	169574164	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgataatccacatgaatgTaacttcagtactttcagatt	13	15	6	7	0	2	3	2	2	0	1	3	3	3	3	1	0	2	2	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574164T>C	ENST00000316428.5	-	5	840	c.783A>G	c.(781-783)ttA>ttG	p.L261L	LRRC31_ENST00000264676.5_Silent_p.L205L|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.L261L	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	261										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACATGAATGTAACTTCAGTA	0.323													C	169574164	T	C	169574164	2	2	364	1	0	0	0	0	0	0	0	1	9056	1635	57	3		3	LRRC31	3	169574164	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33912	169574164	28448266	3469	26971											
LRRC31	79782	broad.mit.edu	37	chr3	169574503	169574503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccacttacccagaaatgtCccatcttctgacgtgaggga	10	11	8	12	1	2	3	0	2	2	1	4	4	4	4	3	1	1	0	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169574503C>T	ENST00000316428.5	-	4	702	c.645G>A	c.(643-645)ggG>ggA	p.G215G	LRRC31_ENST00000264676.5_Silent_p.G159G|LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000523069.1_Silent_p.G215G	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	215										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CCAGAAATGTCCCATCTTCTG	0.403													T	169574503	C	T	169574503	2	4	364	1	0	0	0	0	0	0	0	1	9056	842	30	2		2	LRRC31	3	169574503	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339	169574503	28447927	3470	26972											
SAMD7	344658	broad.mit.edu	37	chr3	169644693	169644693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcctaggtcagactcatGcagttccctatgaagaggat	13	10	9	9	0	2	3	2	1	0	2	4	4	4	4	2	2	1	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644693G>A	ENST00000428432.2	+	6	1032	c.643G>A	c.(643-645)Gca>Aca	p.A215T	SAMD7_ENST00000335556.3_Missense_Mutation_p.A215T	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	215										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			TCAGACTCATGCAGTTCCCTA	0.433													A	169644693	G	A	169644693	3	1	364	1	0	0	0	0	1	0	0	0	13915	1319	46	2	657	2	SAMD7	3	169644693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70190	169644693	28377737	3471	26973											
SAMD7	344658	broad.mit.edu	37	chr3	169644878	169644878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaagcaaaggcctgggaCgatgggaaagaggaggcttc	13	5	16	7	1	0	2	0	1	0	1	1	6	0	5	1	5	1	2	1	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169644878C>T	ENST00000428432.2	+	6	1217	c.828C>T	c.(826-828)gaC>gaT	p.D276D	SAMD7_ENST00000335556.3_Silent_p.D276D	NM_182610.2	NP_872416.1	Q7Z3H4	SAMD7_HUMAN	sterile alpha motif domain containing 7	276										NS(1)|biliary_tract(1)|breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(22;1.55e-22)|all_epithelial(15;2.41e-27)|all_lung(20;3.52e-17)|Lung NSC(18;1.44e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0106)			AGGCCTGGGACGATGGGAAAG	0.562													T	169644878	C	T	169644878	2	4	364	1	0	0	0	0	0	0	0	1	13915	535	19	1		1	SAMD7	3	169644878	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	169644878	28377552	3472	26974											
GPR160	26996	broad.mit.edu	37	chr3	169802423	169802423	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatatgaatgaaactatCttatattttcctttttcatc	11	20	2	8	0	2	2	1	2	1	0	5	2	4	2	2	0	1	0	2	0	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169802423C>A	ENST00000355897.5	+	4	1271	c.663C>A	c.(661-663)atC>atA	p.I221I		NM_014373.2	NP_055188.1	Q9UJ42	GP160_HUMAN	G protein-coupled receptor 160	221						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)	8	all_cancers(22;3.26e-22)|all_epithelial(15;5.71e-27)|all_lung(20;8.41e-17)|Lung NSC(18;3.49e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGAAACTATCTTATATTTTC	0.338													A	169802423	C	A	169802423	2	1	364	1	0	0	0	0	0	0	0	1	6718	903	32	4		4	GPR160	3	169802423	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157545	169802423	28220007	3473	26975											
PHC3	80012	broad.mit.edu	37	chr3	169820406	169820406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacgttctctttcccgctcGctctgcctgcgcagacgagt	4	12	9	16	5	3	1	1	0	2	1	6	2	4	1	2	0	2	4	2	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169820406G>A	ENST00000495893.2	-	14	2725	c.2694C>T	c.(2692-2694)agC>agT	p.S898S	PHC3_ENST00000494943.1_Silent_p.S886S|PHC3_ENST00000467570.1_3'UTR	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TTTCCCGCTCGCTCTGCCTGC	0.473													A	169820406	G	A	169820406	2	1	364	1	0	0	0	0	0	0	0	1	11895	1078	38	1		1	PHC3	3	169820406	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17983	169820406	28202024	3474	26976											
PHC3	80012	broad.mit.edu	37	chr3	169863241	169863241	+	Silent	SNP	C	C	T																															gcagactgacaggaagatgaCgatgacgacgagacaacagg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863241C>T	ENST00000495893.2	-	6	673	c.642G>A	c.(640-642)tcG>tcA	p.S214S	PHC3_ENST00000494943.1_Silent_p.S202S|PHC3_ENST00000467570.1_Silent_p.S161S	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			AGGAAGATGACGATGACGACG	0.438													T	169863241	C	T	169863241	2	4	364	1	0	0	0	0	0	0	0	1	11895	523	19	1		1	PHC3	3	169863241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42835	169863241	28159189	3475	26977	55	2									
PHC3	80012	broad.mit.edu	37	chr3	169863247	169863247	+	Silent	SNP	C	C	T																															tgacaggaagatgacgatgaCgacgagacaacaggaatgtc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169863247C>T	ENST00000495893.2	-	6	667	c.636G>A	c.(634-636)tcG>tcA	p.S212S	PHC3_ENST00000494943.1_Silent_p.S200S|PHC3_ENST00000467570.1_Silent_p.S159S	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		Ser-rich.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			ATGACGATGACGACGAGACAA	0.438													T	169863247	C	T	169863247	2	4	364	1	0	0	0	0	0	0	0	1	11895	523	19	1		1	PHC3	3	169863247	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6	169863247	28159183	3476	26978	55	2									
PRKCI	5584	broad.mit.edu	37	chr3	169977800	169977800	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttggagttagaagaagcCtttagactttatgagctaaa	14	12	10	5	0	0	4	0	1	0	3	0	5	0	5	1	1	2	3	1	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:169977800C>A	ENST00000295797.4	+	3	572	c.267C>A	c.(265-267)gcC>gcA	p.A89A		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	89	Interaction with PARD6A.|OPR.|Regulatory domain.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			TAGAAGAAGCCTTTAGACTTT	0.353													A	169977800	C	A	169977800	2	1	364	1	0	0	0	0	0	0	0	1	12600	668	24	4		4	PRKCI	3	169977800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114553	169977800	28044630	3477	26979											
PRKCI	5584	broad.mit.edu	37	chr3	170002337	170002337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaactggacaatgtattaCtggactctgaaggccacatt	13	11	9	8	0	1	2	0	2	1	0	1	4	1	4	1	3	2	1	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170002337C>A	ENST00000295797.4	+	12	1461	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M		NM_002740.5	NP_002731.4	P41743	KPCI_HUMAN	protein kinase C, iota	386	Protein kinase.				anti-apoptosis|cellular membrane organization|cellular response to insulin stimulus|establishment or maintenance of epithelial cell apical/basal polarity|intracellular signal transduction|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|protein targeting to membrane|secretion|tight junction assembly|vesicle-mediated transport	cytosol|endosome|nucleus|polarisome	ATP binding|phospholipid binding|protein binding|protein kinase C activity|zinc ion binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	36	all_cancers(22;6.45e-23)|all_epithelial(15;8.52e-28)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CAATGTATTACTGGACTCTGA	0.338													A	170002337	C	A	170002337	3	1	364	1	0	0	0	0	1	0	0	0	12600	564	20	4	1202	4	PRKCI	3	170002337	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24537	170002337	28020093	3478	26980											
SKIL	6498	broad.mit.edu	37	chr3	170078168	170078168	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttcagggctcaactaaaAaactgaatgggatgggagat	14	9	13	5	0	2	2	2	1	0	1	2	4	2	3	0	4	2	2	0	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170078168A>C	ENST00000458537.3	+	1	758	c.49A>C	c.(49-51)Aaa>Caa	p.K17Q	SKIL_ENST00000259119.4_Missense_Mutation_p.K17Q|SKIL_ENST00000426052.2_5'UTR|SKIL_ENST00000413427.2_Missense_Mutation_p.K17Q	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	17					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CTCAACTAAAAAACTGAATGG	0.388													C	170078168	A	C	170078168	3	2	364	1	0	0	0	0	1	0	0	0	14452	15	1	5	51	5	SKIL	3	170078168	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75831	170078168	27944262	3479	26981											
SKIL	6498	broad.mit.edu	37	chr3	170102422	170102422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagacagaggcaagtaagtCcatatcaagacagtcagaga	19	5	10	7	0	2	4	2	0	0	4	3	5	3	4	1	1	0	2	1	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170102422C>T	ENST00000458537.3	+	3	2007	c.1298C>T	c.(1297-1299)tCc>tTc	p.S433F	SKIL_ENST00000259119.4_Missense_Mutation_p.S433F|SKIL_ENST00000426052.2_Missense_Mutation_p.S413F|SKIL_ENST00000413427.2_Intron	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	433					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			GCAAGTAAGTCCATATCAAGA	0.403													T	170102422	C	T	170102422	3	4	364	1	0	0	0	0	1	0	0	0	14452	855	30	2	1308	2	SKIL	3	170102422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24254	170102422	27920008	3480	26982											
SLC7A14	57709	broad.mit.edu	37	chr3	170204111	170204111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtggtggcgatgatgTcaaagccaatgaaagcgtag	12	8	13	8	2	1	2	1	2	0	0	2	3	2	2	2	2	2	1	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170204111T>C	ENST00000231706.5	-	5	1121	c.806A>G	c.(805-807)gAc>gGc	p.D269G	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GGCGATGATGTCAAAGCCAAT	0.527													C	170204111	T	C	170204111	3	2	364	1	0	0	0	0	1	0	0	0	14790	1667	58	3	1525	3	SLC7A14	3	170204111	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101689	170204111	27818319	3481	26983											
TNIK	23043	broad.mit.edu	37	chr3	170819285	170819285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtcccatcatgggtctcGctctctccatcttcctcctc	4	14	5	18	1	4	0	1	0	3	0	11	0	8	0	4	1	0	1	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:170819285G>A	ENST00000436636.2	-	22	2888	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	TNIK_ENST00000284483.8_Silent_p.S840S|TNIK_ENST00000369326.5_Silent_p.S826S|TNIK_ENST00000538048.1_Silent_p.S800S|TNIK_ENST00000475336.1_Silent_p.S756S|TNIK_ENST00000470834.1_Silent_p.S811S|TNIK_ENST00000341852.6_Silent_p.S764S|TNIK_ENST00000488470.1_Silent_p.S793S|TNIK_ENST00000357327.5_Silent_p.S819S|TNIK_ENST00000460047.1_Silent_p.S785S	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	848	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.S848S(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			CATGGGTCTCGCTCTCTCCAT	0.488													A	170819285	G	A	170819285	2	1	364	1	0	0	0	0	0	0	0	1	16413	1078	38	1		1	TNIK	3	170819285	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	615174	170819285	27203145	3482	26984											
PLD1	5337	broad.mit.edu	37	chr3	171330140	171330140	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccatccattactgaaggAacagtctctgtatcttgcac	10	14	6	11	0	2	1	0	1	2	0	5	2	4	2	2	1	3	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171330140A>G	ENST00000356327.5	-	24	2767	c.2697T>C	c.(2695-2697)gtT>gtC	p.V899V	PLD1_ENST00000340989.4_Silent_p.V937V|PLD1_ENST00000351298.4_Silent_p.V937V|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	937	Catalytic.|PLD phosphodiesterase 2.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TTACTGAAGGAACAGTCTCTG	0.498													G	171330140	A	G	171330140	2	3	364	1	0	0	0	0	0	0	0	1	12122	233	9	3		3	PLD1	3	171330140	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	510855	171330140	26692290	3483	26985											
PLD1	5337	broad.mit.edu	37	chr3	171392294	171392294	+	Missense_Mutation	SNP	A	A	T																															gccagaacttacttacctgtAcgttagcatggacagaccca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392294A>T	ENST00000356327.5	-	18	2181	c.2111T>A	c.(2110-2112)gTa>gAa	p.V704E	PLD1_ENST00000340989.4_Missense_Mutation_p.V742E|PLD1_ENST00000351298.4_Missense_Mutation_p.V742E|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTTACCTGTACGTTAGCATG	0.393													T	171392294	A	T	171392294	3	4	364	1	0	0	0	0	1	0	0	0	12122	391	14	5	1035	5	PLD1	3	171392294	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62154	171392294	26630136	3484	26986	56	2									
PLD1	5337	broad.mit.edu	37	chr3	171392295	171392295	+	Missense_Mutation	SNP	C	C	T																															ccagaacttacttacctgtaCgttagcatggacagacccag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171392295C>T	ENST00000356327.5	-	18	2180	c.2110G>A	c.(2110-2112)Gta>Ata	p.V704I	PLD1_ENST00000340989.4_Missense_Mutation_p.V742I|PLD1_ENST00000351298.4_Missense_Mutation_p.V742I|PLD1_ENST00000342215.6_3'UTR	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	742	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	CTTACCTGTACGTTAGCATGG	0.393													T	171392295	C	T	171392295	3	4	364	1	0	0	0	0	1	0	0	0	12122	536	19	1	1036	1	PLD1	3	171392295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	171392295	26630135	3485	26987	56	2									
PLD1	5337	broad.mit.edu	37	chr3	171417543	171417543	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagtacatactgcttttcGtttaagaatgcagtccaacc	13	12	7	9	1	0	1	0	0	0	1	2	2	1	1	2	0	5	4	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171417543G>A	ENST00000356327.5	-	12	1289	c.1219C>T	c.(1219-1221)Cga>Tga	p.R407*	PLD1_ENST00000340989.4_Nonsense_Mutation_p.R407*|PLD1_ENST00000351298.4_Nonsense_Mutation_p.R407*|PLD1_ENST00000342215.6_Nonsense_Mutation_p.R407*	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	407					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	ACTGCTTTTCGTTTAAGAATG	0.383													A	171417543	G	A	171417543	4	1	364	1	0	0	0	0	0	1	0	0	12122	1153	40	1	2069	1	PLD1	3	171417543	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25248	171417543	26604887	3486	26988											
PLD1	5337	broad.mit.edu	37	chr3	171426565	171426565	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccagtctgtgataaaaatCtcttcatttgcctcttccat	10	15	4	12	0	4	1	1	1	3	0	6	1	5	1	3	0	1	0	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171426565C>T	ENST00000356327.5	-	11	1195	c.1125G>A	c.(1123-1125)gaG>gaA	p.E375E	PLD1_ENST00000340989.4_Silent_p.E375E|PLD1_ENST00000351298.4_Silent_p.E375E|PLD1_ENST00000342215.6_Silent_p.E375E	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	375					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TGATAAAAATCTCTTCATTTG	0.338													T	171426565	C	T	171426565	2	4	364	1	0	0	0	0	0	0	0	1	12122	912	32	2		2	PLD1	3	171426565	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9022	171426565	26595865	3487	26989											
FNDC3B	64778	broad.mit.edu	37	chr3	171969176	171969176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcaacagccctccttcttCtatctacaaaagcagctgca	11	10	4	16	0	4	0	1	0	3	0	5	0	5	0	3	0	6	3	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:171969176C>T	ENST00000336824.4	+	6	734	c.635C>T	c.(634-636)tCt>tTt	p.S212F	FNDC3B_ENST00000416957.1_Missense_Mutation_p.S212F|FNDC3B_ENST00000415807.2_Missense_Mutation_p.S212F	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	212				S -> A (in Ref. 1; BAC53727).		endoplasmic reticulum|integral to membrane		p.S212delS(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTCCTTCTTCTATCTACAAA	0.537													T	171969176	C	T	171969176	3	4	364	1	0	0	0	0	1	0	0	0	6019	913	32	2	653	2	FNDC3B	3	171969176	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	542611	171969176	26053254	3488	26990											
FNDC3B	64778	broad.mit.edu	37	chr3	172065003	172065003	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatttctgcctttccagaGtcctgatagttctggtgctg	5	16	9	11	0	2	2	0	1	2	1	5	2	5	2	4	1	2	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172065003G>T	ENST00000336824.4	+	21	2465	c.2366G>T	c.(2365-2367)aGt>aTt	p.S789I	FNDC3B_ENST00000416957.1_Splice_Site_p.S789I|FNDC3B_ENST00000415807.2_Splice_Site_p.S789I	NM_001135095.1	NP_001128567.1	Q53EP0	FND3B_HUMAN	fibronectin type III domain containing 3B	789	Fibronectin type-III 6.					endoplasmic reticulum|integral to membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(26)|ovary(3)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	69	all_cancers(22;1.01e-18)|Ovarian(172;0.00167)|Breast(254;0.165)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)	GBM - Glioblastoma multiforme(1;0.0494)		CCTTTCCAGAGTCCTGATAGT	0.413													T	172065003	G	T	172065003	5	4	364	1	0	0	0	0	0	0	1	0	6019	1043	36	4	2444	4	FNDC3B	3	172065003	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95827	172065003	25957427	3489	26991											
ECT2	1894	broad.mit.edu	37	chr3	172482124	172482124	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctctaaatacccctaaCagcaatcgcaaacgacgtcg	13	9	5	14	4	1	0	0	0	1	0	4	1	1	0	2	0	4	2	2	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482124C>T	ENST00000417960.1	+	12	1506	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	ECT2_ENST00000540509.1_Silent_p.N375N|ECT2_ENST00000441497.2_Silent_p.N344N|ECT2_ENST00000392692.3_Silent_p.N375N|ECT2_ENST00000232458.5_Silent_p.N344N|ECT2_ENST00000427830.1_Silent_p.N344N	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	344					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			ATACCCCTAACAGCAATCGCA	0.443													T	172482124	C	T	172482124	2	4	364	1	0	0	0	0	0	0	0	1	4940	477	17	2		2	ECT2	3	172482124	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	417121	172482124	25540306	3490	26992											
ECT2	1894	broad.mit.edu	37	chr3	172482141	172482141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagcaatcgcaaacgacGtcgtttaaaagaaacacttg	17	8	7	9	4	0	1	0	0	0	1	2	2	0	1	0	0	4	3	0	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172482141G>A	ENST00000417960.1	+	12	1523	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	ECT2_ENST00000540509.1_Missense_Mutation_p.R381H|ECT2_ENST00000441497.2_Missense_Mutation_p.R350H|ECT2_ENST00000392692.3_Missense_Mutation_p.R381H|ECT2_ENST00000232458.5_Missense_Mutation_p.R350H|ECT2_ENST00000427830.1_Missense_Mutation_p.R350H	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	350					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			CGCAAACGACGTCGTTTAAAA	0.453													A	172482141	G	A	172482141	3	1	364	1	0	0	0	0	1	0	0	0	4940	1145	40	1	1087	1	ECT2	3	172482141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17	172482141	25540289	3491	26993											
ECT2	1894	broad.mit.edu	37	chr3	172525559	172525559	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggttattctggaaccctaGattgccataatgcttttgcc	9	15	8	9	0	1	1	0	0	1	1	1	2	1	2	3	2	4	2	3	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:172525559G>A	ENST00000417960.1	+	22	2626		c.e22-1		ECT2_ENST00000540509.1_Splice_Site|ECT2_ENST00000441497.2_Splice_Site|ECT2_ENST00000392692.3_Splice_Site|ECT2_ENST00000232458.5_Splice_Site|ECT2_ENST00000427830.1_Splice_Site	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TGGAACCCTAGATTGCCATAA	0.398													A	172525559	G	A	172525559	5	1	364	1	0	0	0	0	0	0	1	0	4940	956	33	2	2230	2	ECT2	3	172525559	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43418	172525559	25496871	3492	26994											
NLGN1	22871	broad.mit.edu	37	chr3	173993227	173993228	+	Frame_Shift_Ins	INS	-	-	T																															tgaccccttaagaatcactgINStttttggatctggtgctggg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:173993227_173993228insT	ENST00000457714.1	+	5	1198_1199	c.769_770insT	c.(769-771)gttfs	p.V257fs	NLGN1_ENST00000361589.4_Frame_Shift_Ins_p.V257fs|NLGN1_ENST00000401917.3_Frame_Shift_Ins_p.V297fs|NLGN1_ENST00000466350.1_3'UTR|NLGN1_ENST00000545397.1_Frame_Shift_Ins_p.V257fs	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	274					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			AAGAATCACTGTTTTTGGATCT	0.431													T	173993228	-	T	173993227	7	5	364	1	0	1	1	0	0	0	0	0	10537	1377	48	0	779	0	NLGN1	3	173993227	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1467668	173993227	24029203	3493	26995											
NAALADL2	254827	broad.mit.edu	37	chr3	174814914	174814914	+	Frame_Shift_Del	DEL	A	A	-																															tgcaacttttgccacgtcttAaaaatactttgcacagccac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:174814914delA	ENST00000454872.1	+	2	506	c.378delA	c.(376-378)ttafs	p.L126fs	NAALADL2-AS3_ENST00000453180.1_RNA|NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	126					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		GCCACGTCTTAAAAATACTTT	0.388													-	174814914	A	-	174814914	7	5	364	1	0	1	0	1	0	0	0	0	10206	359	13	0	384	0	NAALADL2	3	174814914	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	821687	174814914	23207516	3494	26996											
NAALADL2	254827	broad.mit.edu	37	chr3	175165105	175165105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcaaaactgatctcttcGccaaaagctagaaccaaaaa	17	8	6	10	1	1	2	0	1	1	1	3	2	1	2	2	0	4	3	2	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:175165105G>A	ENST00000454872.1	+	6	1307	c.1179G>A	c.(1177-1179)tcG>tcA	p.S393S	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	393					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		TGATCTCTTCGCCAAAAGCTA	0.378													A	175165105	G	A	175165105	2	1	364	1	0	0	0	0	0	0	0	1	10206	1074	38	1		1	NAALADL2	3	175165105	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350191	175165105	22857325	3495	26997											
TBL1XR1	79718	broad.mit.edu	37	chr3	176752029	176752029	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattattagtccctggtcCtgttggactccatttgatag	7	16	10	8	0	0	1	0	1	0	0	3	3	3	3	3	3	0	1	3	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:176752029C>A	ENST00000430069.1	-	13	1466	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*	TBL1XR1_ENST00000457928.2_Nonsense_Mutation_p.G403*			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	403					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			GTCCCTGGTCCTGTTGGACTC	0.328													A	176752029	C	A	176752029	4	1	364	1	0	0	0	0	0	1	0	0	15740	690	24	4	353	4	TBL1XR1	3	176752029	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1586924	176752029	21270401	3496	26998											
KCNMB2	10242	broad.mit.edu	37	chr3	178543541	178543541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactcctgcgctcatacatGcagaggtaataccactgggt	11	9	9	12	1	1	1	1	0	0	1	2	1	2	1	2	2	4	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178543541G>A	ENST00000432997.1	+	3	574	c.222G>A	c.(220-222)atG>atA	p.M74I	KCNMB2_ENST00000452583.1_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.M74I|KCNMB2_ENST00000358316.3_Missense_Mutation_p.M74I|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_001278911.1	NP_001265840.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	74					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			GCTCATACATGCAGAGGTAAT	0.532													A	178543541	G	A	178543541	3	1	364	1	0	0	0	0	1	0	0	0	8133	1319	46	2	228	2	KCNMB2	3	178543541	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1791512	178543541	19478889	3497	26999											
ZMAT3	64393	broad.mit.edu	37	chr3	178745246	178745246	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtatacatatttctcctgTtaggcatcatcttaaactca	11	16	4	10	0	4	0	2	0	2	0	5	0	4	0	1	1	2	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178745246T>C	ENST00000311417.2	-	5	1364	c.623A>G	c.(622-624)aAc>aGc	p.N208S	ZMAT3_ENST00000432729.1_Missense_Mutation_p.N208S	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	208					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			ATTTCTCCTGTTAGGCATCAT	0.403													C	178745246	T	C	178745246	3	2	364	1	0	0	0	0	1	0	0	0	17794	1725	60	3	254	3	ZMAT3	3	178745246	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	201705	178745246	19277184	3498	27000											
ZMAT3	64393	broad.mit.edu	37	chr3	178748770	178748770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtaatttcggagtttCttaccatgatttttacccta	10	17	6	8	1	1	1	0	1	1	0	2	2	1	2	2	1	2	3	2	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178748770C>A	ENST00000311417.2	-	3	1029	c.288G>T	c.(286-288)aaG>aaT	p.K96N	ZMAT3_ENST00000432729.1_Missense_Mutation_p.K96N	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3	96					apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			TTCGGAGTTTCTTACCATGAT	0.438													A	178748770	C	A	178748770	3	1	364	1	0	0	0	0	1	0	0	0	17794	912	32	4	597	4	ZMAT3	3	178748770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3524	178748770	19273660	3499	27001											
PIK3CA	5290	broad.mit.edu	37	chr3	178917576	178917576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacgtttgtaaagaagctGtggatcttagggacctcaat	12	12	11	6	1	2	2	1	1	1	1	2	4	2	4	1	2	2	3	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178917576G>A	ENST00000263967.3	+	3	608	c.451G>A	c.(451-453)Gtg>Atg	p.V151M		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	151					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAAGAAGCTGTGGATCTTAG	0.383		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917576	G	A	178917576	3	1	364	1	0	0	0	0	1	0	0	0	11990	1377	48	2	457	2	PIK3CA	3	178917576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168806	178917576	19104854	3500	27002											
KCNMB3	27094	broad.mit.edu	37	chr3	178960736	178960736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcctcctcataatgcacaGtttgaactgatgctgttcta	9	14	7	11	0	2	2	1	2	1	0	4	2	4	2	2	0	3	5	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:178960736G>A	ENST00000392685.2	-	3	1423	c.784C>T	c.(784-786)Ctg>Ttg	p.L262L	KCNMB3_ENST00000486944.1_Intron|KCNMB3_ENST00000314235.5_Silent_p.L266L|KCNMB3_ENST00000349697.2_Silent_p.L264L|KCNMB3_ENST00000497599.1_Intron|KCNMB3_ENST00000485523.1_Silent_p.L244L	NM_171830.1	NP_741981.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M beta member 3	266					detection of calcium ion|platelet activation|regulation of action potential in neuron	voltage-gated potassium channel complex	calcium-activated potassium channel activity|potassium channel regulator activity			NS(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_cancers(143;5.6e-17)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;2.41e-27)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.03)			ATAATGCACAGTTTGAACTGA	0.413													A	178960736	G	A	178960736	2	1	364	1	0	0	0	0	0	0	0	1	8134	1020	36	2		2	KCNMB3	3	178960736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43160	178960736	19061694	3501	27003											
MFN1	55669	broad.mit.edu	37	chr3	179082095	179082095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcattagtccaggcacaGatgtcactacagagctggat	11	10	9	11	0	2	2	2	0	1	2	4	3	3	3	1	2	2	2	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179082095G>T	ENST00000471841.1	+	6	673	c.547G>T	c.(547-549)Gat>Tat	p.D183Y	MFN1_ENST00000280653.7_Missense_Mutation_p.D183Y|MFN1_ENST00000263969.5_Missense_Mutation_p.D183Y	NM_033540.2	NP_284941	Q8IWA4	MFN1_HUMAN	mitofusin 1	183					mitochondrial fusion	integral to membrane|mitochondrial outer membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(3)|prostate(1)|urinary_tract(1)	31	all_cancers(143;1.67e-16)|Ovarian(172;0.0172)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;5.78e-26)|GBM - Glioblastoma multiforme(14;0.00225)|BRCA - Breast invasive adenocarcinoma(182;0.0923)			TCCAGGCACAGATGTCACTAC	0.323													T	179082095	G	T	179082095	3	4	364	1	0	0	0	0	1	0	0	0	9598	942	33	4	565	4	MFN1	3	179082095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121359	179082095	18940335	3502	27004											
PEX5L	51555	broad.mit.edu	37	chr3	179519707	179519707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggtccatcagagagagcGcaattctgagggcagcccag	10	7	14	10	1	2	3	1	1	1	2	3	4	3	3	2	2	2	3	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179519707G>A	ENST00000467460.1	-	15	2120	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	PEX5L_ENST00000392649.3_Missense_Mutation_p.A489V|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.A538V|PEX5L_ENST00000263962.8_Missense_Mutation_p.A595V|PEX5L_ENST00000464614.1_Missense_Mutation_p.A489V|PEX5L_ENST00000465751.1_Missense_Mutation_p.A573V|PEX5L_ENST00000476138.1_Missense_Mutation_p.A554V|PEX5L_ENST00000485199.1_Missense_Mutation_p.A562V|PEX5L_ENST00000468741.1_Missense_Mutation_p.A405V	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	597					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CAGAGAGAGCGCAATTCTGAG	0.473													A	179519707	G	A	179519707	3	1	364	1	0	0	0	0	1	0	0	0	11826	1087	38	1	94	1	PEX5L	3	179519707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	437612	179519707	18502723	3503	27005											
PEX5L	51555	broad.mit.edu	37	chr3	179576924	179576924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtaatgcgcttccccagcGatgttctttggtcagtcgag	8	12	11	10	3	2	0	1	0	1	0	4	2	3	0	2	1	2	3	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:179576924G>A	ENST00000467460.1	-	8	1078	c.748C>T	c.(748-750)Cgc>Tgc	p.R250C	PEX5L_ENST00000392649.3_Missense_Mutation_p.R142C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000472994.1_Missense_Mutation_p.R191C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R248C|PEX5L_ENST00000465751.1_Missense_Mutation_p.R226C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R142C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R207C|PEX5L_ENST00000485199.1_Missense_Mutation_p.R215C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R58C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	250					protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			CTTCCCCAGCGATGTTCTTTG	0.358													A	179576924	G	A	179576924	3	1	364	1	0	0	0	0	1	0	0	0	11826	1058	37	1	1164	1	PEX5L	3	179576924	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57217	179576924	18445506	3504	27006											
TTC14	151613	broad.mit.edu	37	chr3	180328127	180328127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacatgagcaaagatacCgtttaaatacaaatcaagga	19	8	8	6	1	1	3	1	1	0	2	1	4	1	4	1	1	3	3	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180328127C>T	ENST00000296015.4	+	12	2242	c.2110C>T	c.(2110-2112)Cgt>Tgt	p.R704C	TTC14_ENST00000382584.4_Intron|TTC14_ENST00000412756.2_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	704							RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GCAAAGATACCGTTTAAATAC	0.388													T	180328127	C	T	180328127	3	4	364	1	0	0	0	0	1	0	0	0	16783	652	23	1	2186	1	TTC14	3	180328127	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	751203	180328127	17694303	3505	27007											
CCDC39	339829	broad.mit.edu	37	chr3	180334613	180334613	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtttttaaaagatatcgataCctgtttggtcactctttcta	10	18	6	7	1	3	1	1	0	2	1	4	2	3	1	1	1	1	2	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180334613C>T	ENST00000273654.4	-	22	3118		c.e22+1		TTC14_ENST00000382584.4_Intron|CCDC39_ENST00000442201.2_Splice_Site			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39						axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			GATATCGATACCTGTTTGGTC	0.308													T	180334613	C	T	180334613	5	4	364	1	0	0	0	0	0	0	1	0	2838	521	18	2	434	2	CCDC39	3	180334613	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6486	180334613	17687817	3506	27008											
CCDC39	339829	broad.mit.edu	37	chr3	180337714	180337714	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgttgatcttggcatcCaaacagtcaccttccctttg	7	15	7	12	0	2	1	1	1	1	0	4	1	4	1	3	1	1	3	3	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180337714C>T	ENST00000442201.2	-	15	2162	c.2043G>A	c.(2041-2043)ttG>ttA	p.L681L	CCDC39_ENST00000273654.4_Intron	NM_181426.1	NP_852091.1	Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	681					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			TCTTGGCATCCAAACAGTCAC	0.353													T	180337714	C	T	180337714	2	4	364	1	0	0	0	0	0	0	0	1	2838	593	21	2		2	CCDC39	3	180337714	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3101	180337714	17684716	3507	27009											
CCDC39	339829	broad.mit.edu	37	chr3	180377294	180377294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatctgttctattgtgttCtcccattgtttaatgagttc	6	20	7	8	0	3	1	0	1	3	0	5	1	3	1	1	0	1	5	1	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180377294C>T	ENST00000273654.4	-	12	1555	c.936G>A	c.(934-936)gaG>gaA	p.E312E	CCDC39_ENST00000442201.2_Silent_p.E228E			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	228					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CTATTGTGTTCTCCCATTGTT	0.368													T	180377294	C	T	180377294	2	4	364	1	0	0	0	0	0	0	0	1	2838	912	32	2		2	CCDC39	3	180377294	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39580	180377294	17645136	3508	27010											
FXR1	8087	broad.mit.edu	37	chr3	180652995	180652995	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctgatataaaaaaagaAattagtgaaggagatgaagt	20	8	9	4	0	0	5	0	3	0	2	0	6	0	5	2	1	0	0	2	1	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180652995A>G	ENST00000357559.4	+	3	558	c.174A>G	c.(172-174)gaA>gaG	p.E58E	FXR1_ENST00000480918.1_Silent_p.E45E|FXR1_ENST00000445140.2_Silent_p.E58E|FXR1_ENST00000468861.1_5'UTR|FXR1_ENST00000305586.7_5'UTR|FXR1_ENST00000491062.1_Intron	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	58					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			TAAAAAAAGAAATTAGTGAAG	0.303													G	180652995	A	G	180652995	2	3	364	1	0	0	0	0	0	0	0	1	6167	11	1	3		3	FXR1	3	180652995	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	275701	180652995	17369435	3509	27011											
FXR1	8087	broad.mit.edu	37	chr3	180685891	180685891	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaatctgagcgtaaagaCgagctgagtgattggtcatt	12	10	13	6	3	2	4	1	3	1	1	2	6	2	5	0	2	2	2	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180685891C>T	ENST00000357559.4	+	14	1635	c.1251C>T	c.(1249-1251)gaC>gaT	p.D417D	FXR1_ENST00000480918.1_Silent_p.D404D|FXR1_ENST00000445140.2_Silent_p.D417D|FXR1_ENST00000468861.1_Silent_p.D332D|FXR1_ENST00000305586.7_Silent_p.D332D|FXR1_ENST00000491062.1_Silent_p.D368D	NM_001013438.2|NM_005087.3	NP_001013456.1|NP_005078.2	P51114	FXR1_HUMAN	fragile X mental retardation, autosomal homolog 1	417					apoptosis|cell differentiation|muscle organ development	nucleolus|polysome				breast(3)|endometrium(4)|large_intestine(5)|lung(12)|skin(2)	26	all_cancers(143;6.07e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-35)|OV - Ovarian serous cystadenocarcinoma(80;2.4e-22)			AGCGTAAAGACGAGCTGAGTG	0.463													T	180685891	C	T	180685891	2	4	364	1	0	0	0	0	0	0	0	1	6167	535	19	1		1	FXR1	3	180685891	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32896	180685891	17336539	3510	27012											
DNAJC19	131118	broad.mit.edu	37	chr3	180705837	180705837	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtaggctttgaaaaacttGttttacttgaggctccatat	10	16	9	6	0	0	2	0	2	0	0	1	2	1	2	1	3	2	4	1	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:180705837G>A	ENST00000382564.2	-	3	273	c.103C>T	c.(103-105)Caa>Taa	p.Q35*	DNAJC19_ENST00000479269.1_Nonsense_Mutation_p.Q10*|DNAJC19_ENST00000486355.1_Nonsense_Mutation_p.Q35*|DNAJC19_ENST00000491873.1_Nonsense_Mutation_p.Q10*	NM_145261.3	NP_660304.1	Q96DA6	TIM14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 19	35					genitalia development|protein folding|protein targeting to mitochondrion|transmembrane transport|visual perception	integral to membrane|mitochondrial inner membrane	heat shock protein binding			large_intestine(2)|lung(1)	3	all_cancers(143;3.12e-14)|Ovarian(172;0.0212)		Epithelial(37;3.05e-36)|OV - Ovarian serous cystadenocarcinoma(80;1.55e-22)			TGAAAAACTTGTTTTACTTGA	0.378													A	180705837	G	A	180705837	4	1	364	1	0	0	0	0	0	1	0	0	4677	1386	48	2	263	2	DNAJC19	3	180705837	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19946	180705837	17316593	3511	27013											
SOX2	6657	broad.mit.edu	37	chr3	181430973	181430973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctccgggacatgatcagCatgtatctccccggcgccga	8	7	11	15	4	2	1	1	1	1	0	4	4	3	2	5	2	1	2	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:181430973C>T	ENST00000325404.1	+	1	1252	c.825C>T	c.(823-825)agC>agT	p.S275S	SOX2_ENST00000431565.2_Silent_p.S275S	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	275					cell cycle arrest|chromatin organization|eye development|glial cell fate commitment|inner ear development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell proliferation|negative regulation of neuron differentiation|osteoblast differentiation|pituitary gland development|positive regulation of MAPKKK cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of caspase activity|response to growth factor stimulus|response to wounding|somatic stem cell maintenance	cytosol|transcription factor complex	miRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACATGATCAGCATGTATCTCC	0.692			A		"NSCLC, oesophageal squamous carcinoma"		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME						T	181430973	C	T	181430973	2	4	364	1	0	0	0	0	0	0	0	1	15043	709	25	2		2	SOX2	3	181430973	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	725136	181430973	16591457	3512	27014											
ATP11B	23200	broad.mit.edu	37	chr3	182547540	182547540	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtaactgccataaagcaGgtatgaaatactttcttttt	14	14	6	7	0	1	1	0	1	1	0	1	1	1	1	1	1	4	3	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182547540G>T	ENST00000323116.5	+	4	575	c.315G>T	c.(313-315)caG>caT	p.Q105H	ATP11B_ENST00000493826.1_Splice_Site_p.Q105H	NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	105					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			CCATAAAGCAGGTATGAAATA	0.299													T	182547540	G	T	182547540	5	4	364	1	0	0	0	0	0	0	1	0	1125	1014	35	4	329	4	ATP11B	3	182547540	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1116567	182547540	15474890	3513	27015											
ATP11B	23200	broad.mit.edu	37	chr3	182585172	182585172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgatgtctaggattggtaTtgtgtttattggcaattctg	7	20	11	3	0	2	1	0	1	2	0	2	2	2	2	0	3	0	3	0	3	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182585172T>C	ENST00000323116.5	+	15	1888	c.1628T>C	c.(1627-1629)aTt>aCt	p.I543T		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	543					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			AGGATTGGTATTGTGTTTATT	0.289													C	182585172	T	C	182585172	3	2	364	1	0	0	0	0	1	0	0	0	1125	1493	52	3	1686	3	ATP11B	3	182585172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37632	182585172	15437258	3514	27016											
ATP11B	23200	broad.mit.edu	37	chr3	182635856	182635856	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataccaacgacaggagcatCttgactctctccacaatgga	13	9	7	12	1	2	1	0	1	2	0	4	4	3	3	2	2	3	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182635856C>A	ENST00000323116.5	+	30	3758	c.3498C>A	c.(3496-3498)atC>atA	p.I1166I		NM_014616.2	NP_055431.1	Q9Y2G3	AT11B_HUMAN	ATPase, class VI, type 11B	1166					aminophospholipid transport|ATP biosynthetic process	integral to membrane|nuclear inner membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|liver(2)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	41	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;1.2e-42)|Epithelial(37;2.77e-36)|LUSC - Lung squamous cell carcinoma(7;7.58e-24)|Lung(8;4.66e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.35e-20)			ACAGGAGCATCTTGACTCTCT	0.428													A	182635856	C	A	182635856	2	1	364	1	0	0	0	0	0	0	0	1	1125	903	32	4		4	ATP11B	3	182635856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50684	182635856	15386574	3515	27017											
DCUN1D1	54165	broad.mit.edu	37	chr3	182683487	182683487	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttttttcactagattGtgtgaagatcataaactgac	11	16	8	6	0	2	4	2	2	0	2	2	4	2	4	0	0	2	2	0	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182683487G>A	ENST00000292782.4	-	2	211	c.58C>T	c.(58-60)Caa>Taa	p.Q20*	DCUN1D1_ENST00000469954.1_Nonsense_Mutation_p.Q5*	NM_020640.2	NP_065691.2	Q96GG9	DCNL1_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 1	20	UBA-like.					ubiquitin ligase complex	protein binding			endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15	all_cancers(143;9.04e-15)|Ovarian(172;0.0355)		all cancers(12;2.54e-44)|Epithelial(37;4.71e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCACTAGATTGTGTGAAGATC	0.313													A	182683487	G	A	182683487	4	1	364	1	0	0	0	0	0	1	0	0	4347	1386	48	2	745	2	DCUN1D1	3	182683487	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47631	182683487	15338943	3516	27018											
LAMP3	27074	broad.mit.edu	37	chr3	182853553	182853553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggcttgaagttggacatCggttgttttcacctgcaggt	9	13	12	7	1	1	1	1	1	0	0	2	2	1	2	1	4	1	5	1	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182853553C>T	ENST00000265598.3	-	5	1324	c.1069G>A	c.(1069-1071)Gat>Aat	p.D357N	LAMP3_ENST00000466939.1_Missense_Mutation_p.D333N	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	357					cell proliferation	integral to membrane|lysosomal membrane		p.D357N(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			AGTTGGACATCGGTTGTTTTC	0.488													T	182853553	C	T	182853553	3	4	364	1	0	0	0	0	1	0	0	0	8678	884	31	1	189	1	LAMP3	3	182853553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170066	182853553	15168877	3517	27019											
LAMP3	27074	broad.mit.edu	37	chr3	182871577	182871577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgactgacgatggctgagGtgcaagggtgggcccaggaa	9	7	17	8	1	0	3	0	3	0	0	0	5	0	4	1	5	1	2	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182871577G>A	ENST00000265598.3	-	2	907	c.652C>T	c.(652-654)Cct>Tct	p.P218S	LAMP3_ENST00000466939.1_Missense_Mutation_p.P194S	NM_014398.3	NP_055213.2	Q9UQV4	LAMP3_HUMAN	lysosomal-associated membrane protein 3	218					cell proliferation	integral to membrane|lysosomal membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(2)	28	all_cancers(143;9.14e-14)|Ovarian(172;0.0355)		all cancers(12;2.91e-44)|Epithelial(37;5.52e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;4.16e-21)			GATGGCTGAGGTGCAAGGGTG	0.542													A	182871577	G	A	182871577	3	1	364	1	0	0	0	0	1	0	0	0	8678	1261	44	2	618	2	LAMP3	3	182871577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18024	182871577	15150853	3518	27020											
MCF2L2	23101	broad.mit.edu	37	chr3	182910809	182910809	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaatccctcctgtgctggaGgccgggtcttccttgctagt	4	14	11	12	1	1	0	0	0	1	0	4	1	4	1	4	3	2	2	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182910809G>T	ENST00000328913.3	-	27	3291	c.2994C>A	c.(2992-2994)gcC>gcA	p.A998A	MCF2L2_ENST00000468976.1_5'UTR|MCF2L2_ENST00000473233.1_Silent_p.A998A	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	998					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CTGTGCTGGAGGCCGGGTCTT	0.493													T	182910809	G	T	182910809	2	4	364	1	0	0	0	0	0	0	0	1	9455	987	35	4		4	MCF2L2	3	182910809	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39232	182910809	15111621	3519	27021											
B3GNT5	84002	broad.mit.edu	37	chr3	182987848	182987848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtgtcaagctcaagacGtcctccttttactgtttgta	11	14	7	9	1	2	1	2	0	0	1	4	1	4	1	2	0	2	3	2	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182987848G>A	ENST00000326505.3	+	2	792	c.262G>A	c.(262-264)Gtc>Atc	p.V88I	B3GNT5_ENST00000465010.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.V88I|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	88					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			AGCTCAAGACGTCCTCCTTTT	0.443													A	182987848	G	A	182987848	3	1	364	1	0	0	0	0	1	0	0	0	1265	1145	40	1	264	1	B3GNT5	3	182987848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77039	182987848	15034582	3520	27022											
B3GNT5	84002	broad.mit.edu	37	chr3	182988710	182988710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacatacccttgtagggCtgcgtttatctaatagtact	10	13	9	9	1	1	0	0	0	1	0	1	1	1	1	1	2	3	4	1	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:182988710C>A	ENST00000326505.3	+	2	1654	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	B3GNT5_ENST00000465010.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000473233.1_Intron|B3GNT5_ENST00000460419.1_Missense_Mutation_p.A375D|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	375					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			CCTTGTAGGGCTGCGTTTATC	0.333													A	182988710	C	A	182988710	3	1	364	1	0	0	0	0	1	0	0	0	1265	797	28	4	1126	4	B3GNT5	3	182988710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	862	182988710	15033720	3521	27023											
MCF2L2	23101	broad.mit.edu	37	chr3	183013151	183013151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagactcaggatgtggggCcacaggttgcactggacgag	10	7	16	8	1	1	2	1	1	0	1	1	5	1	4	1	5	1	2	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183013151C>T	ENST00000328913.3	-	13	1909	c.1612G>A	c.(1612-1614)Gcc>Acc	p.A538T	B3GNT5_ENST00000462559.1_Intron|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A538T|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A538T|MCF2L2_ENST00000447025.2_Missense_Mutation_p.A538T	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	538					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GGATGTGGGGCCACAGGTTGC	0.488													T	183013151	C	T	183013151	3	4	364	1	0	0	0	0	1	0	0	0	9455	739	26	2	1804	2	MCF2L2	3	183013151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24441	183013151	15009279	3522	27024											
KLHL6	89857	broad.mit.edu	37	chr3	183209811	183209811	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacgccccggggcaggacGcactcctctgtcagtttctg	6	8	12	15	3	3	0	1	0	2	0	4	2	4	1	3	3	0	3	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183209811G>A	ENST00000341319.3	-	7	1805	c.1770C>T	c.(1768-1770)tgC>tgT	p.C590C		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	590										breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			GGGGCAGGACGCACTCCTCTG	0.652													A	183209811	G	A	183209811	2	1	364	1	0	0	0	0	0	0	0	1	8451	1079	38	1		1	KLHL6	3	183209811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196660	183209811	14812619	3523	27025											
KLHL24	54800	broad.mit.edu	37	chr3	183368322	183368322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagatatttaatgaatttCgtgatagccgcttattcaca	12	15	6	8	2	1	3	1	2	0	1	3	3	2	3	2	0	1	1	2	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183368322C>T	ENST00000454652.2	+	4	564	c.178C>T	c.(178-180)Cgt>Tgt	p.R60C	KLHL24_ENST00000242810.6_Missense_Mutation_p.R60C|KLHL24_ENST00000476808.1_Missense_Mutation_p.R60C	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon		p.R60C(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAATGAATTTCGTGATAGCCG	0.413													T	183368322	C	T	183368322	3	4	364	1	0	0	0	0	1	0	0	0	8437	884	31	1	180	1	KLHL24	3	183368322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158511	183368322	14654108	3524	27026											
KLHL24	54800	broad.mit.edu	37	chr3	183381373	183381373	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctttggctaagcttccaGaatttaccaaatcagagtat	13	13	7	8	0	2	2	1	0	1	2	3	2	3	2	2	1	2	3	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183381373G>T	ENST00000454652.2	+	5	1434	c.1048G>T	c.(1048-1050)Gaa>Taa	p.E350*	KLHL24_ENST00000242810.6_Nonsense_Mutation_p.E350*|KLHL24_ENST00000476808.1_Nonsense_Mutation_p.E350*	NM_017644.3	NP_060114.2	Q6TFL4	KLH24_HUMAN	kelch-like family member 24							axon|cytoplasm|perikaryon				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;2.88e-10)|Ovarian(172;0.0303)		all cancers(12;1.43e-42)|Epithelial(37;1.73e-36)|OV - Ovarian serous cystadenocarcinoma(80;8.75e-22)			TAAGCTTCCAGAATTTACCAA	0.393													T	183381373	G	T	183381373	4	4	364	1	0	0	0	0	0	1	0	0	8437	943	33	4	1054	4	KLHL24	3	183381373	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13051	183381373	14641057	3525	27027											
PARL	55486	broad.mit.edu	37	chr3	183585821	183585821	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgcttttctgaatccGcatttttgttgaataaagaa	10	16	9	6	1	1	3	0	2	1	1	2	3	2	3	1	1	1	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183585821G>A	ENST00000317096.4	-	2	213	c.153C>T	c.(151-153)tgC>tgT	p.C51C	PARL_ENST00000435888.1_Silent_p.C51C|PARL_ENST00000311101.5_Silent_p.C51C	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	51					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTGAATCCGCATTTTTGTT	0.423													A	183585821	G	A	183585821	2	1	364	1	0	0	0	0	0	0	0	1	11527	1079	38	1		1	PARL	3	183585821	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204448	183585821	14436609	3526	27028											
ABCC5	10057	broad.mit.edu	37	chr3	183643470	183643470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatcaataagtctgtctctGtgtccatggcagctgtggct	8	13	11	9	0	3	0	1	0	2	0	5	1	4	0	1	2	1	3	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183643470G>A	ENST00000334444.6	-	29	4325	c.4085C>T	c.(4084-4086)aCa>aTa	p.T1362I	ABCC5_ENST00000265586.6_Missense_Mutation_p.T1319I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1362	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			GTCTGTCTCTGTGTCCATGGC	0.458													A	183643470	G	A	183643470	3	1	364	1	0	0	0	0	1	0	0	0	56	1377	48	2	236	2	ABCC5	3	183643470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57649	183643470	14378960	3527	27029											
ABCC5	10057	broad.mit.edu	37	chr3	183660584	183660584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggatactttctttaggaCgagagggaggttttctcggt	9	13	14	5	2	2	1	0	0	2	1	3	6	2	4	0	5	1	1	0	5	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183660584C>T	ENST00000334444.6	-	25	3865	c.3625G>A	c.(3625-3627)Gtc>Atc	p.V1209I	ABCC5_ENST00000265586.6_Missense_Mutation_p.V1166I	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	1209	ABC transporter 2.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TTCTTTAGGACGAGAGGGAGG	0.502													T	183660584	C	T	183660584	3	4	364	1	0	0	0	0	1	0	0	0	56	536	19	1	712	1	ABCC5	3	183660584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17114	183660584	14361846	3528	27030											
ABCC5	10057	broad.mit.edu	37	chr3	183677558	183677558	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttttccttctttactgaTcctgttttaggacccttgtc	4	20	6	11	0	1	1	0	1	1	0	4	2	3	2	3	1	1	2	3	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183677558T>C	ENST00000334444.6	-	17	2685	c.2445A>G	c.(2443-2445)ggA>ggG	p.G815G	ABCC5_ENST00000265586.6_Silent_p.G815G	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	815						integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TCTTTACTGATCCTGTTTTAG	0.328													C	183677558	T	C	183677558	2	2	364	1	0	0	0	0	0	0	0	1	56	1422	50	3		3	ABCC5	3	183677558	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16974	183677558	14344872	3529	27031											
ABCC5	10057	broad.mit.edu	37	chr3	183683285	183683285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgctgccctctagaagcGtcatctagggagagagacac	12	7	11	11	1	3	3	1	0	2	3	3	5	3	3	1	1	3	1	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183683285G>A	ENST00000334444.6	-	13	2078	c.1838C>T	c.(1837-1839)aCg>aTg	p.T613M	ABCC5_ENST00000265586.6_Missense_Mutation_p.T613M	NM_005688.2	NP_005679.2	O15440	MRP5_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 5	613	ABC transporter 1.					integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62	all_cancers(143;1.85e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CTCTAGAAGCGTCATCTAGGG	0.512													A	183683285	G	A	183683285	3	1	364	1	0	0	0	0	1	0	0	0	56	1145	40	1	2547	1	ABCC5	3	183683285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5727	183683285	14339145	3530	27032											
HTR3C	170572	broad.mit.edu	37	chr3	183774017	183774017	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaagagtgtgttggcatcaAtaaactcacagtattagctg	15	11	9	6	0	2	1	2	0	0	1	2	1	2	1	0	1	2	4	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774017A>T	ENST00000318351.1	+	4	366	c.332A>T	c.(331-333)aAt>aTt	p.N111I		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	111						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GTTGGCATCAATAAACTCACA	0.502													T	183774017	A	T	183774017	3	4	364	1	0	0	0	0	1	0	0	0	7504	101	4	5	346	5	HTR3C	3	183774017	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	90732	183774017	14248413	3531	27033											
HTR3C	170572	broad.mit.edu	37	chr3	183774687	183774687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggatcagacgccttcCggtctcactgcctatatcag	8	11	10	12	2	3	1	3	0	1	1	5	3	4	2	3	2	1	0	3	2	2	3	rs140566773	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183774687C>T	ENST00000318351.1	+	5	448	c.414C>T	c.(412-414)tcC>tcT	p.S138S		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	138						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			AGACGCCTTCCGGTCTCACTG	0.507													T	183774687	C	T	183774687	2	4	364	1	0	0	0	0	0	0	0	1	7504	639	23	1		1	HTR3C	3	183774687	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	670	183774687	14247743	3532	27034											
EIF2B5	8893	broad.mit.edu	37	chr3	183855492	183855492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgatcactgggagatgtcctCcgtgatgttgatgccaaggc	8	10	13	10	2	1	3	1	2	0	1	3	5	3	3	3	2	1	1	3	2	1	1	rs4496517		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183855492C>T	ENST00000273783.3	+	3	527	c.405C>T	c.(403-405)ctC>ctT	p.L135L	EIF2B5_ENST00000498831.1_3'UTR|EIF2B5_ENST00000444495.1_Silent_p.L135L	NM_003907.2	NP_003898.2	Q13144	EI2BE_HUMAN	eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa	135					astrocyte development|myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|positive regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus|RNA metabolic process	cytosol|eukaryotic translation initiation factor 2B complex|nucleus	guanyl-nucleotide exchange factor activity|transferase activity|translation initiation factor activity|translation initiation factor binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(5)|urinary_tract(1)	27	all_cancers(143;7.59e-11)|Ovarian(172;0.0303)		Epithelial(37;7.06e-36)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			GAGATGTCCTCCGTGATGTTG	0.483													T	183855492	C	T	183855492	2	4	364	1	0	0	0	0	0	0	0	1	5043	842	30	2		2	EIF2B5	3	183855492	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80805	183855492	14166938	3533	27035											
DVL3	1857	broad.mit.edu	37	chr3	183882303	183882303	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgctggtgggggcagccAggagaacctggacaatgaca	11	6	15	9	0	1	2	1	1	0	1	1	4	1	3	2	5	3	2	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183882303A>G	ENST00000313143.3	+	4	625	c.377A>G	c.(376-378)cAg>cGg	p.Q126R	DVL3_ENST00000431765.1_Missense_Mutation_p.Q126R|DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	126					canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			GGGGGCAGCCAGGAGAACCTG	0.647													G	183882303	A	G	183882303	3	3	364	1	0	0	0	0	1	0	0	0	4876	188	7	3	391	3	DVL3	3	183882303	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26811	183882303	14140127	3534	27036											
ABCF3	55324	broad.mit.edu	37	chr3	183905481	183905481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagaagttagagaaggcCgaggctcgacttaaggcaaa	16	5	13	7	2	0	2	0	0	0	2	1	5	0	2	1	3	0	4	1	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183905481C>T	ENST00000429586.2	+	5	563	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ABCF3_ENST00000292808.5_Silent_p.A120A|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	126							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TAGAGAAGGCCGAGGCTCGAC	0.527													T	183905481	C	T	183905481	2	4	364	1	0	0	0	0	0	0	0	1	67	639	23	1		1	ABCF3	3	183905481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23178	183905481	14116949	3535	27037											
ALG3	10195	broad.mit.edu	37	chr3	183960347	183960347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctcttggggaaaggctgCgggcccagccagagctgcag	7	6	17	11	1	1	1	0	0	1	1	1	2	1	2	2	4	5	4	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183960347C>T	ENST00000455059.1	-	9	1606	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P	ALG3_ENST00000418734.2_Silent_p.P368P|ALG3_ENST00000445626.2_Silent_p.P376P|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Silent_p.P424P			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	424					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity	p.P424P(1)		kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGAAAGGCTGCGGGCCCAGCC	0.592													T	183960347	C	T	183960347	2	4	364	1	0	0	0	0	0	0	0	1	520	755	27	1		1	ALG3	3	183960347	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54866	183960347	14062083	3536	27038											
ALG3	10195	broad.mit.edu	37	chr3	183961690	183961690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggaagcgccagttcActgtccagtggaacagaaac	12	6	13	10	1	1	1	1	0	0	1	2	4	2	4	2	3	3	1	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:183961690A>G	ENST00000455059.1	-	6	1155	c.701T>C	c.(700-702)gTg>gCg	p.V234A	ALG3_ENST00000418734.2_Missense_Mutation_p.V218A|ALG3_ENST00000445626.2_Missense_Mutation_p.V226A|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.V274A|ALG3_ENST00000463495.1_5'UTR			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	274					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCGCCAGTTCACTGTCCAGTG	0.637													G	183961690	A	G	183961690	3	3	364	1	0	0	0	0	1	0	0	0	520	159	6	3	511	3	ALG3	3	183961690	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1343	183961690	14060740	3537	27039											
ECE2	9718	broad.mit.edu	37	chr3	184007445	184007445	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagatgccatctatgAtatgattggtttcccagact	10	13	9	9	0	2	4	1	2	1	2	3	4	3	4	2	2	1	2	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184007445A>C	ENST00000402825.3	+	13	1844	c.1844A>C	c.(1843-1845)gAt>gCt	p.D615A	ECE2_ENST00000404464.3_Missense_Mutation_p.D497A|ECE2_ENST00000359140.4_Missense_Mutation_p.D468A|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000357474.5_Missense_Mutation_p.D543A	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	615	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCCATCTATGATATGATTGGT	0.493											OREG0015946	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	184007445	A	C	184007445	3	2	364	1	0	0	0	0	1	0	0	0	4929	333	12	5	2458	5	ECE2	3	184007445	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45755	184007445	14014985	3538	27040											
PSMD2	5708	broad.mit.edu	37	chr3	184026613	184026613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggccactgaggagtttCttcctgttacccccattctg	7	14	8	12	0	2	1	0	1	2	0	3	2	3	2	4	2	1	2	4	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184026613C>A	ENST00000310118.4	+	21	3220	c.2662C>A	c.(2662-2664)Ctt>Att	p.L888I	PSMD2_ENST00000439383.1_Missense_Mutation_p.L758I|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.L729I	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	888					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	p.L888F(1)		breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	TGAGGAGTTTCTTCCTGTTAC	0.527											OREG0015948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	184026613	C	A	184026613	3	1	364	1	0	0	0	0	1	0	0	0	12783	913	32	4	2744	4	PSMD2	3	184026613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19168	184026613	13995817	3539	27041											
EIF4G1	1981	broad.mit.edu	37	chr3	184040467	184040467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaaaggaagacaaaattCacaatgctgagaacatccag	19	6	7	9	0	2	2	2	1	0	2	3	4	3	3	1	1	2	1	1	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184040467C>T	ENST00000342981.4	+	11	2158	c.1744C>T	c.(1744-1746)Cac>Tac	p.H582Y	EIF4G1_ENST00000414031.1_Missense_Mutation_p.H542Y|EIF4G1_ENST00000352767.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000350481.5_Missense_Mutation_p.H418Y|EIF4G1_ENST00000392537.2_Missense_Mutation_p.H495Y|EIF4G1_ENST00000424196.1_Missense_Mutation_p.H589Y|EIF4G1_ENST00000435046.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000434061.2_Missense_Mutation_p.H386Y|EIF4G1_ENST00000427845.1_Missense_Mutation_p.H495Y|EIF4G1_ENST00000382330.3_Missense_Mutation_p.H589Y|EIF4G1_ENST00000441154.1_Missense_Mutation_p.H418Y|EIF4G1_ENST00000319274.6_Missense_Mutation_p.H582Y|EIF4G1_ENST00000346169.2_Missense_Mutation_p.H582Y|EIF4G1_ENST00000411531.1_Missense_Mutation_p.H542Y|EIF2B5_ENST00000444495.1_Intron	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	582	MIF4G.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGACAAAATTCACAATGCTGA	0.507													T	184040467	C	T	184040467	3	4	364	1	0	0	0	0	1	0	0	0	5077	826	29	2	1782	2	EIF4G1	3	184040467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13854	184040467	13981963	3540	27042											
CLCN2	1181	broad.mit.edu	37	chr3	184070836	184070836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacctgtgggactctctcCgaggttcctggtgacactgg	5	12	12	12	1	1	1	0	1	1	0	4	3	3	2	3	4	1	1	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184070836C>T	ENST00000265593.4	-	18	2299	c.2128G>A	c.(2128-2130)Gga>Aga	p.G710R	CLCN2_ENST00000434054.2_Missense_Mutation_p.G666R|CLCN2_ENST00000423355.2_3'UTR|CLCN2_ENST00000457512.1_Missense_Mutation_p.G710R|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.G693R	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	710						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	GGACTCTCTCCGAGGTTCCTG	0.607													T	184070836	C	T	184070836	3	4	364	1	0	0	0	0	1	0	0	0	3494	661	23	1	596	1	CLCN2	3	184070836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30369	184070836	13951594	3541	27043											
CLCN2	1181	broad.mit.edu	37	chr3	184073305	184073305	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagggtgaccagcgtctCtttctgtgagagctagagtg	10	10	13	8	1	2	3	0	2	2	2	3	4	2	3	1	1	3	1	1	1	2	2	rs146097084		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184073305C>A	ENST00000265593.4	-	12	1354	c.1183G>T	c.(1183-1185)Gag>Tag	p.E395*	CLCN2_ENST00000434054.2_Nonsense_Mutation_p.E351*|CLCN2_ENST00000475279.1_5'UTR|CLCN2_ENST00000423355.2_Nonsense_Mutation_p.E36*|CLCN2_ENST00000457512.1_Nonsense_Mutation_p.E395*|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Nonsense_Mutation_p.E395*	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	395						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	ACCAGCGTCTCTTTCTGTGAG	0.612													A	184073305	C	A	184073305	4	1	364	1	0	0	0	0	0	1	0	0	3494	922	32	4	1565	4	CLCN2	3	184073305	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2469	184073305	13949125	3542	27044											
CHRD	8646	broad.mit.edu	37	chr3	184099582	184099582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctgcgctctagcctccGcttctctatctcctacaggc	4	12	8	17	2	3	0	0	0	3	0	6	0	4	0	3	1	4	4	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184099582G>A	ENST00000204604.1	+	5	836	c.590G>A	c.(589-591)cGc>cAc	p.R197H	CHRD_ENST00000450923.1_Missense_Mutation_p.R197H|CHRD_ENST00000348986.3_Missense_Mutation_p.R197H|EIF2B5_ENST00000444495.1_Intron|CHRD_ENST00000482805.1_3'UTR	NM_003741.2	NP_003732.2	Q9H2X0	CHRD_HUMAN	chordin	197	CHRD 1.				BMP signaling pathway involved in spinal cord dorsal/ventral patterning|floor plate development|negative regulation of BMP signaling pathway|negative regulation of cell migration|positive regulation of cell adhesion|skeletal system development	extracellular space	cytokine binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(23)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TCTAGCCTCCGCTTCTCTATC	0.672													A	184099582	G	A	184099582	3	1	364	1	0	0	0	0	1	0	0	0	3402	1087	38	1	608	1	CHRD	3	184099582	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26277	184099582	13922848	3543	27045											
EPHB3	2049	broad.mit.edu	37	chr3	184290522	184290522	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttctactacgaggctgaCagcgatgtggcctcagcctc	7	10	10	14	2	3	1	1	1	2	0	4	3	3	1	2	2	4	1	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184290522C>T	ENST00000330394.2	+	3	866	c.414C>T	c.(412-414)gaC>gaT	p.D138D	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	138						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACGAGGCTGACAGCGATGTGG	0.582													T	184290522	C	T	184290522	2	4	364	1	0	0	0	0	0	0	0	1	5217	477	17	2		2	EPHB3	3	184290522	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190940	184290522	13731908	3544	27046											
EPHB3	2049	broad.mit.edu	37	chr3	184295234	184295234	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacggagtcatcctggactaCgagatgaagtactttgagaa	14	9	11	7	2	1	3	1	2	0	2	2	7	2	5	1	2	3	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184295234C>T	ENST00000330394.2	+	6	1910	c.1458C>T	c.(1456-1458)taC>taT	p.Y486Y	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	486	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			TCCTGGACTACGAGATGAAGT	0.602													T	184295234	C	T	184295234	2	4	364	1	0	0	0	0	0	0	0	1	5217	547	19	1		1	EPHB3	3	184295234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4712	184295234	13727196	3545	27047											
EPHB3	2049	broad.mit.edu	37	chr3	184297592	184297592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcggcgggacttcctaaGcgaggcctccatcatgggtc	7	7	14	13	3	1	0	1	0	0	0	4	2	3	1	3	4	2	1	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184297592G>A	ENST00000330394.2	+	11	2494	c.2042G>A	c.(2041-2043)aGc>aAc	p.S681N	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	681	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			GACTTCCTAAGCGAGGCCTCC	0.577													A	184297592	G	A	184297592	3	1	364	1	0	0	0	0	1	0	0	0	5217	971	34	2	2084	2	EPHB3	3	184297592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2358	184297592	13724838	3546	27048											
EHHADH	1962	broad.mit.edu	37	chr3	184910836	184910836	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggtagtgggggaagaGtattggctgggaataacctc	11	9	16	5	0	0	1	0	0	0	1	1	3	0	3	1	5	1	4	1	5	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:184910836G>T	ENST00000231887.3	-	7	1425	c.1350C>A	c.(1348-1350)taC>taA	p.Y450*	EHHADH_ENST00000456310.1_Nonsense_Mutation_p.Y354*	NM_001166415.1|NM_001966.3	NP_001159887.1|NP_001957.2	Q08426	ECHP_HUMAN	enoyl-CoA, hydratase/3-hydroxyacyl CoA dehydrogenase	450	3-hydroxyacyl-CoA dehydrogenase.					peroxisome	3-hydroxyacyl-CoA dehydrogenase activity|coenzyme binding|dodecenoyl-CoA delta-isomerase activity|enoyl-CoA hydratase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(2)|skin(3)	24	all_cancers(143;4.04e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.98e-32)|OV - Ovarian serous cystadenocarcinoma(80;5.55e-21)		NADH(DB00157)	TGGGGGAAGAGTATTGGCTGG	0.428													T	184910836	G	T	184910836	4	4	364	1	0	0	0	0	0	1	0	0	5021	1024	36	4	825	4	EHHADH	3	184910836	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	613244	184910836	13111594	3547	27049											
TMEM41A	90407	broad.mit.edu	37	chr3	185212550	185212550	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctgttctcctccacCtgtagccaaagagaagaaag	11	11	8	11	0	2	2	0	0	2	2	4	3	3	2	4	0	1	3	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185212550C>A	ENST00000421852.1	-	4	531		c.e4-1		TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_Splice_Site	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A							integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TCTCCTCCACCTGTAGCCAAA	0.438													A	185212550	C	A	185212550	5	1	364	1	0	0	0	0	0	0	1	0	16264	695	24	4	367	4	TMEM41A	3	185212550	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	301714	185212550	12809880	3548	27050											
LIPH	200879	broad.mit.edu	37	chr3	185234927	185234927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttcccccttagatggtCtttccaattatcagcataat	10	16	4	11	0	3	1	1	0	2	1	5	1	5	1	3	1	1	1	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185234927C>A	ENST00000296252.4	-	7	1051	c.910G>T	c.(910-912)Gac>Tac	p.D304Y	LIPH_ENST00000424591.2_Missense_Mutation_p.D270Y	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	304					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CTTAGATGGTCTTTCCAATTA	0.378													A	185234927	C	A	185234927	3	1	364	1	0	0	0	0	1	0	0	0	8885	913	32	4	461	4	LIPH	3	185234927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22377	185234927	12787503	3549	27051											
LIPH	200879	broad.mit.edu	37	chr3	185236961	185236961	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactctttttgtgacgtGccgcagctgacacacttgcc	7	11	10	13	2	1	2	0	2	1	0	1	3	1	3	2	1	3	2	2	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185236961G>A	ENST00000296252.4	-	6	996	c.855C>T	c.(853-855)ggC>ggT	p.G285G	LIPH_ENST00000424591.2_Silent_p.G251G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	285					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TTTGTGACGTGCCGCAGCTGA	0.478													A	185236961	G	A	185236961	2	1	364	1	0	0	0	0	0	0	0	1	8885	1306	46	2		2	LIPH	3	185236961	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2034	185236961	12785469	3550	27052											
LIPH	200879	broad.mit.edu	37	chr3	185251378	185251378	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtaattctccccagccaTccatcgtacatctctccaac	9	11	3	18	1	2	0	0	0	2	0	7	0	4	0	6	0	3	2	6	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185251378T>C	ENST00000296252.4	-	3	648	c.507A>G	c.(505-507)ggA>ggG	p.G169G	LIPH_ENST00000424591.2_Silent_p.G169G	NM_139248.2	NP_640341.1	Q8WWY8	LIPH_HUMAN	lipase, member H	169					lipid catabolic process	extracellular space|plasma membrane	heparin binding|phospholipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(2)	20	all_cancers(143;8.87e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCCCAGCCATCCATCGTACA	0.493													C	185251378	T	C	185251378	2	2	364	1	0	0	0	0	0	0	0	1	8885	1422	50	3		3	LIPH	3	185251378	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14417	185251378	12771052	3551	27053											
SENP2	59343	broad.mit.edu	37	chr3	185304249	185304249	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaccattttccgtttctgCgaccggtcggtgccccctgc	3	11	11	16	4	1	0	0	0	1	0	3	1	2	0	5	3	3	2	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185304249C>T	ENST00000296257.5	+	1	288	c.48C>T	c.(46-48)tgC>tgT	p.C16C	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_Intron|SENP2_ENST00000545472.1_Intron	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	16					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCCGTTTCTGCGACCGGTCGG	0.667													T	185304249	C	T	185304249	2	4	364	1	0	0	0	0	0	0	0	1	14140	776	27	1		1	SENP2	3	185304249	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52871	185304249	12718181	3552	27054											
SENP2	59343	broad.mit.edu	37	chr3	185318632	185318632	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagccacgcagagtcctGccttcctttgggtaagtgtt	7	12	11	11	1	1	1	1	0	0	1	3	2	3	1	4	1	2	3	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185318632G>C	ENST00000296257.5	+	5	678	c.438G>C	c.(436-438)ctG>ctC	p.L146L	SENP2_ENST00000427465.2_5'UTR|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Silent_p.L136L	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	146					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GCAGAGTCCTGCCTTCCTTTG	0.373													C	185318632	G	C	185318632	2	2	364	1	0	0	0	0	0	0	0	1	14140	1306	46	4		4	SENP2	3	185318632	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14383	185318632	12703798	3553	27055											
SENP2	59343	broad.mit.edu	37	chr3	185327117	185327117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggaaactctgtctgtcCtgtaacttcaaattatcaca	12	14	5	10	0	5	0	3	0	2	0	6	1	6	1	1	1	2	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185327117C>A	ENST00000296257.5	+	7	941	c.701C>A	c.(700-702)cCt>cAt	p.P234H	SENP2_ENST00000427465.2_Missense_Mutation_p.P58H|SENP2_ENST00000545472.1_Missense_Mutation_p.P224H	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	234					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			TCTGTCTGTCCTGTAACTTCA	0.378													A	185327117	C	A	185327117	3	1	364	1	0	0	0	0	1	0	0	0	14140	681	24	4	727	4	SENP2	3	185327117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8485	185327117	12695313	3554	27056											
SENP2	59343	broad.mit.edu	37	chr3	185330425	185330425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaacaaggggacctctatGttcattgagaagtgaaaaga	16	9	11	5	0	2	4	1	3	1	2	2	6	2	5	1	2	1	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185330425G>A	ENST00000296257.5	+	9	1088	c.848G>A	c.(847-849)tGt>tAt	p.C283Y	SENP2_ENST00000427465.2_Missense_Mutation_p.C107Y|SENP2_ENST00000545472.1_Missense_Mutation_p.C273Y	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	283					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			GGACCTCTATGTTCATTGAGA	0.308													A	185330425	G	A	185330425	3	1	364	1	0	0	0	0	1	0	0	0	14140	1377	48	2	882	2	SENP2	3	185330425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3308	185330425	12692005	3555	27057											
IGF2BP2	10644	broad.mit.edu	37	chr3	185407364	185407364	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcatccgggatgtaggaAatcttgaaggagtagttctc	10	13	11	7	1	4	1	1	1	3	0	6	4	5	4	1	3	0	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185407364A>G	ENST00000382199.2	-	6	551	c.456T>C	c.(454-456)atT>atC	p.I152I	IGF2BP2_ENST00000457616.2_Silent_p.I158I|IGF2BP2_ENST00000346192.3_Silent_p.I152I|IGF2BP2_ENST00000421047.2_Silent_p.I95I	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	152	RRM 2.				anatomical structure morphogenesis|negative regulation of translation	cytoskeletal part|cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			GGATGTAGGAAATCTTGAAGG	0.582													G	185407364	A	G	185407364	2	3	364	1	0	0	0	0	0	0	0	1	7632	10	1	3		3	IGF2BP2	3	185407364	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	76939	185407364	12615066	3556	27058											
TRA2B	6434	broad.mit.edu	37	chr3	185643365	185643365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtctatgggagcgggagcGagaccgtgaccgggtataat	9	8	16	8	5	1	2	0	1	1	1	2	5	1	4	2	3	2	1	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:185643365G>A	ENST00000453386.2	-	3	495	c.220C>T	c.(220-222)Cgc>Tgc	p.R74C	TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	74	Arg/Ser-rich (RS1 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						GAGCGGGAGCGAGACCGTGAC	0.507													A	185643365	G	A	185643365	3	1	364	1	0	0	0	0	1	0	0	0	16535	1058	37	1	674	1	TRA2B	3	185643365	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236001	185643365	12379065	3557	27059											
DGKG	1608	broad.mit.edu	37	chr3	186002489	186002489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatctgaatcatagaggCgaaacatgactgtaagaaac	16	9	8	8	1	3	4	2	2	2	2	4	5	3	4	0	1	2	1	0	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186002489C>T	ENST00000265022.3	-	7	1093	c.554G>A	c.(553-555)cGc>cAc	p.R185H	DGKG_ENST00000344484.4_Missense_Mutation_p.R185H|DGKG_ENST00000544847.1_Missense_Mutation_p.R185H|DGKG_ENST00000382164.4_Missense_Mutation_p.R185H	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	185	EF-hand 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	ATCATAGAGGCGAAACATGAC	0.483													T	186002489	C	T	186002489	3	4	364	1	0	0	0	0	1	0	0	0	4508	768	27	1	1897	1	DGKG	3	186002489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	359124	186002489	12019941	3558	27060											
TBCCD1	55171	broad.mit.edu	37	chr3	186276249	186276249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcaggtcaggagactgaGatttgtttctgggactgggc	8	11	15	7	0	3	2	2	1	1	2	3	5	3	3	0	4	0	1	0	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186276249G>T	ENST00000424280.1	-	3	928	c.449C>A	c.(448-450)tCt>tAt	p.S150Y	TBCCD1_ENST00000446782.1_Missense_Mutation_p.S54Y|TBCCD1_ENST00000338733.5_Missense_Mutation_p.S150Y	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	150					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGGAGACTGAGATTTGTTTCT	0.408													T	186276249	G	T	186276249	3	4	364	1	0	0	0	0	1	0	0	0	15732	942	33	4	1244	4	TBCCD1	3	186276249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273760	186276249	11746181	3559	27061											
KNG1	3827	broad.mit.edu	37	chr3	186457161	186457161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttatgtggtaccctgggaGaaaaaaatttaccctactgt	12	13	9	7	0	0	1	0	0	0	1	0	2	0	1	2	2	3	2	2	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186457161G>A	ENST00000265023.4	+	9	1295	c.1083G>A	c.(1081-1083)gaG>gaA	p.E361E	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Silent_p.E361E|KNG1_ENST00000447445.1_Silent_p.E325E|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	361	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TACCCTGGGAGAAAAAAATTT	0.403													A	186457161	G	A	186457161	2	1	364	1	0	0	0	0	0	0	0	1	8485	933	33	2		2	KNG1	3	186457161	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180912	186457161	11565269	3560	27062											
KNG1	3827	broad.mit.edu	37	chr3	186459812	186459812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacagacacaagagaagacaGaagggccaacacccatccct	17	2	8	14	0	0	4	0	0	0	4	1	5	1	4	3	1	1	0	3	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186459812G>A	ENST00000265023.4	+	10	1839	c.1627G>A	c.(1627-1629)Gaa>Aaa	p.E543K	RP11-573D15.8_ENST00000354642.2_RNA|KNG1_ENST00000287611.2_Intron|KNG1_ENST00000447445.1_Intron|RP11-573D15.8_ENST00000599314.1_RNA	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	543					blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	AGAGAAGACAGAAGGGCCAAC	0.458													A	186459812	G	A	186459812	3	1	364	1	0	0	0	0	1	0	0	0	8485	943	33	2	1665	2	KNG1	3	186459812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2651	186459812	11562618	3561	27063											
RFC4	5984	broad.mit.edu	37	chr3	186509558	186509558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgatctcctttccacCtgttaatcgagtagcgcttt	6	16	7	12	2	2	1	0	1	2	0	5	2	3	1	3	0	1	3	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186509558C>A	ENST00000392481.2	-	8	1038	c.757G>T	c.(757-759)Ggt>Tgt	p.G253C	RFC4_ENST00000296273.2_Missense_Mutation_p.G253C|RFC4_ENST00000433496.1_Missense_Mutation_p.G253C	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	253					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TCCTTTCCACCTGTTAATCGA	0.378													A	186509558	C	A	186509558	3	1	364	1	0	0	0	0	1	0	0	0	13335	681	24	4	350	4	RFC4	3	186509558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49746	186509558	11512872	3562	27064											
RFC4	5984	broad.mit.edu	37	chr3	186522387	186522387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttactatttttccacccagGgaacgggtttggctttcttg	6	16	9	10	1	1	0	0	0	1	0	2	1	2	1	2	3	2	2	2	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522387G>A	ENST00000392481.2	-	2	397	c.116C>T	c.(115-117)cCc>cTc	p.P39L	RFC4_ENST00000296273.2_Missense_Mutation_p.P39L|RFC4_ENST00000433496.1_Missense_Mutation_p.P39L	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	39					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding	p.P39L(1)		breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TTCCACCCAGGGAACGGGTTT	0.398													A	186522387	G	A	186522387	3	1	364	1	0	0	0	0	1	0	0	0	13335	1232	43	2	1015	2	RFC4	3	186522387	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12829	186522387	11500043	3563	27065											
RFC4	5984	broad.mit.edu	37	chr3	186522416	186522416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctttcttgttctctccGctacttcccgcactggcagc	3	15	8	15	2	2	0	0	0	2	0	5	0	4	0	2	2	2	5	2	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186522416G>A	ENST00000392481.2	-	2	368	c.87C>T	c.(85-87)agC>agT	p.S29S	RFC4_ENST00000296273.2_Silent_p.S29S|RFC4_ENST00000433496.1_Silent_p.S29S	NM_181573.2	NP_853551.1	P35249	RFC4_HUMAN	replication factor C (activator 1) 4, 37kDa	29					cell cycle checkpoint|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|phosphatidylinositol-mediated signaling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|protein binding			breast(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_cancers(143;2.92e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)	GBM - Glioblastoma multiforme(93;0.0739)		TGTTCTCTCCGCTACTTCCCG	0.438													A	186522416	G	A	186522416	2	1	364	1	0	0	0	0	0	0	0	1	13335	1078	38	1		1	RFC4	3	186522416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	186522416	11500014	3564	27066											
ST6GAL1	6480	broad.mit.edu	37	chr3	186760527	186760527	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaaaagttcagctgCtgcgtcctggtctttcttct	8	14	9	10	1	4	2	1	1	3	1	5	2	5	2	1	1	3	3	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186760527C>A	ENST00000169298.3	+	4	710	c.36C>A	c.(34-36)tgC>tgA	p.C12*	ST6GAL1_ENST00000457772.2_Intron|ST6GAL1_ENST00000448044.1_Nonsense_Mutation_p.C12*	NM_173216.2	NP_775323.1	P15907	SIAT1_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 1	12					humoral immune response|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_cancers(143;2.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;8.53e-19)	GBM - Glioblastoma multiforme(93;0.0939)		AGTTCAGCTGCTGCGTCCTGG	0.403													A	186760527	C	A	186760527	4	1	364	1	0	0	0	0	0	1	0	0	15317	805	28	4	38	4	ST6GAL1	3	186760527	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238111	186760527	11261903	3565	27067											
MASP1	5648	broad.mit.edu	37	chr3	186937930	186937930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaagagtatactccgtagcGgtccttcttcccacagtcat	9	12	8	12	2	2	1	1	0	1	1	5	1	5	1	3	1	2	3	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186937930G>A	ENST00000337774.5	-	16	2418	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	677	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		ACTCCGTAGCGGTCCTTCTTC	0.572											OREG0015972	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	186937930	G	A	186937930	3	1	364	1	0	0	0	0	1	0	0	0	9397	1116	39	1	74	1	MASP1	3	186937930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177403	186937930	11084500	3566	27068											
MASP1	5648	broad.mit.edu	37	chr3	186943254	186943254	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagtggtgtgtttgacgccGagatgctgttcattttcatc	7	15	12	7	2	2	3	2	1	0	2	3	4	2	3	1	1	1	3	1	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186943254G>A	ENST00000337774.5	-	13	1988	c.1599C>T	c.(1597-1599)ctC>ctT	p.L533L		NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	533	Peptidase S1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		GTTTGACGCCGAGATGCTGTT	0.532													A	186943254	G	A	186943254	2	1	364	1	0	0	0	0	0	0	0	1	9397	1045	37	1		1	MASP1	3	186943254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5324	186943254	11079176	3567	27069											
MASP1	5648	broad.mit.edu	37	chr3	186953538	186953538	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcccacacccagtccacGtaattggagacctttgtgta	9	11	8	13	1	0	1	0	0	0	1	2	2	2	1	4	1	1	3	4	1	2	4	rs144758799		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186953538G>A	ENST00000296280.6	-	11	2346	c.2121C>T	c.(2119-2121)taC>taT	p.Y707Y	MASP1_ENST00000337774.5_Intron|MASP1_ENST00000392472.2_Silent_p.Y594Y	NM_139125.3	NP_624302.1	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	687					complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		CCCAGTCCACGTAATTGGAGA	0.597													A	186953538	G	A	186953538	2	1	364	1	0	0	0	0	0	0	0	1	9397	1140	40	1		1	MASP1	3	186953538	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10284	186953538	11068892	3568	27070											
MASP1	5648	broad.mit.edu	37	chr3	186969454	186969454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcctgtgtcacagctgaCgagcacttggtctttgaaga	9	11	12	9	1	2	3	1	2	1	1	2	4	2	3	1	1	3	3	1	1	2	3	rs142112097	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:186969454C>T	ENST00000337774.5	-	7	1368	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	MASP1_ENST00000296280.6_Missense_Mutation_p.V327I|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000169293.6_Missense_Mutation_p.V327I|MASP1_ENST00000392470.2_Missense_Mutation_p.V301I|MASP1_ENST00000392472.2_Missense_Mutation_p.V214I	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	327	Sushi 1.				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TCACAGCTGACGAGCACTTGG	0.552													T	186969454	C	T	186969454	3	4	364	1	0	0	0	0	1	0	0	0	9397	536	19	1	2105	1	MASP1	3	186969454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15916	186969454	11052976	3569	27071											
SST	6750	broad.mit.edu	37	chr3	187386859	187386859	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actagttaagaaagctaacaGgatgtgaaagtcttccagaa	17	9	9	6	0	1	3	0	1	1	2	2	4	2	4	1	1	2	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187386859G>T	ENST00000287641.3	-	2	452	c.345C>A	c.(343-345)tcC>tcA	p.S115S		NM_001048.3	NP_001039.1	P61278	SMS_HUMAN	somatostatin	115					digestion|G-protein coupled receptor protein signaling pathway|induction of apoptosis by hormones|negative regulation of cell proliferation|response to nutrient|synaptic transmission	extracellular space	hormone activity			kidney(1)|large_intestine(1)|lung(6)|pancreas(1)	9	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.00444)	Bromocriptine(DB01200)|Cysteamine(DB00847)	AAAGCTAACAGGATGTGAAAG	0.507													T	187386859	G	T	187386859	2	4	364	1	0	0	0	0	0	0	0	1	15292	987	35	4		4	SST	3	187386859	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	417405	187386859	10635571	3570	27072											
BCL6	604	broad.mit.edu	37	chr3	187446838	187446838	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacagtctctgaaatcacCtgttaacgatgttattgagc	12	12	8	9	1	2	3	1	2	1	1	3	4	2	3	1	0	2	2	1	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187446838C>A	ENST00000406870.2	-	5	1721	c.1355G>T	c.(1354-1356)aGg>aTg	p.R452M	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Splice_Site_p.R452M|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Splice_Site_p.R452M	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	452					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CTGAAATCACCTGTTAACGAT	0.542			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								A	187446838	C	A	187446838	5	1	364	1	0	0	0	0	0	0	1	0	1381	695	24	4	789	4	BCL6	3	187446838	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59979	187446838	10575592	3571	27073											
BCL6	604	broad.mit.edu	37	chr3	187447458	187447458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggggacacctccaaagtCggccggctgtactcaccagg	8	7	13	13	2	1	0	1	0	0	0	3	1	2	1	4	5	1	2	4	5	2	2	rs2228258	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:187447458C>T	ENST00000406870.2	-	5	1101	c.735G>A	c.(733-735)ccG>ccA	p.P245P	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Silent_p.P245P|RP11-211G3.3_ENST00000437407.1_Intron|BCL6_ENST00000450123.2_Silent_p.P245P	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	245					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		CCTCCAAAGTCGGCCGGCTGT	0.567			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								T	187447458	C	T	187447458	2	4	364	1	0	0	0	0	0	0	0	1	1381	871	31	1		1	BCL6	3	187447458	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	620	187447458	10574972	3572	27074											
LPP	4026	broad.mit.edu	37	chr3	188327202	188327202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taatgtgcaggtgaagtcagCccagcccagccctcattata	11	9	9	12	0	2	1	2	1	0	0	2	1	2	1	3	1	4	1	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188327202C>A	ENST00000312675.4	+	6	929	c.683C>A	c.(682-684)gCc>gAc	p.A228D	LPP_ENST00000543006.1_Missense_Mutation_p.A228D|LPP_ENST00000448637.1_Missense_Mutation_p.A228D|LPP_ENST00000471917.1_3'UTR	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	228	Pro-rich.				cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		GTGAAGTCAGCCCAGCCCAGC	0.562			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								A	188327202	C	A	188327202	3	1	364	1	0	0	0	0	1	0	0	0	8993	739	26	4	697	4	LPP	3	188327202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879744	188327202	9695228	3573	27075											
LPP	4026	broad.mit.edu	37	chr3	188592251	188592251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgttgaccgccaaggCgagcactgacctttagattc	9	9	12	11	2	0	3	0	2	0	1	1	4	0	3	3	2	1	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:188592251C>T	ENST00000312675.4	+	11	2069	c.1823C>T	c.(1822-1824)gCg>gTg	p.A608V	LPP_ENST00000543006.1_Missense_Mutation_p.A608V	NM_001167672.1|NM_005578.3	NP_001161144.1|NP_005569.1	Q93052	LPP_HUMAN	LIM domain containing preferred translocation partner in lipoma	608					cell adhesion	cytoplasm|focal adhesion|nucleus	protein binding|zinc ion binding		HMGA2/LPP(161)	NS(1)|breast(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10	all_cancers(143;1.37e-09)|all_hematologic(3;0.0429)|Ovarian(172;0.088)	all_lung(153;0.00139)|Lung NSC(153;0.00202)		GBM - Glioblastoma multiforme(93;0.00602)		ACCGCCAAGGCGAGCACTGAC	0.502			T	"HMGA2, MLL, C12orf9"	"lipoma, leukemia"								T	188592251	C	T	188592251	3	4	364	1	0	0	0	0	1	0	0	0	8993	768	27	1	1857	1	LPP	3	188592251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265049	188592251	9430179	3574	27076											
TP63	8626	broad.mit.edu	37	chr3	189587135	189587135	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcgtcagaacacacatggTatccagatgacatccatcaa	14	10	6	11	1	2	3	2	1	0	2	5	3	4	3	2	1	1	1	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189587135T>C	ENST00000264731.3	+	9	1241	c.1152T>C	c.(1150-1152)ggT>ggC	p.G384G	TP63_ENST00000320472.5_Silent_p.G384G|TP63_ENST00000392463.2_Silent_p.G290G|TP63_ENST00000382063.4_Silent_p.G299G|TP63_ENST00000456148.1_Silent_p.G286G|TP63_ENST00000418709.2_Silent_p.G384G|TP63_ENST00000392461.3_Silent_p.G290G|TP63_ENST00000392460.3_Silent_p.G384G|TP63_ENST00000440651.2_Silent_p.G380G|TP63_ENST00000449992.1_Silent_p.G205G|TP63_ENST00000437221.1_Silent_p.G290G|TP63_ENST00000354600.5_Silent_p.G290G	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	384	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		ACACACATGGTATCCAGATGA	0.383										HNSCC(45;0.13)			C	189587135	T	C	189587135	2	2	364	1	0	0	0	0	0	0	0	1	16493	1625	57	3		3	TP63	3	189587135	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	994884	189587135	8435295	3575	27077											
LEPREL1	55214	broad.mit.edu	37	chr3	189692442	189692442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctccgagttgtagaCgaatgtgatgttctcataga	10	12	11	8	2	1	3	1	1	1	2	3	5	2	3	1	0	2	5	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:189692442C>T	ENST00000319332.5	-	9	1554	c.1357G>A	c.(1357-1359)Gtc>Atc	p.V453I	LEPREL1_ENST00000427335.2_Missense_Mutation_p.V272I	NM_018192.3	NP_060662.2	Q8IVL5	P3H2_HUMAN	leprecan-like 1	453					collagen metabolic process|negative regulation of cell proliferation|peptidyl-proline hydroxylation	basement membrane|endoplasmic reticulum|Golgi apparatus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 3-dioxygenase activity	p.V453I(1)		NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(5)	41	all_cancers(143;4.01e-10)|Ovarian(172;0.0925)		Lung(62;4.35e-05)	GBM - Glioblastoma multiforme(93;0.02)	L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GAGTTGTAGACGAATGTGATG	0.537													T	189692442	C	T	189692442	3	4	364	1	0	0	0	0	1	0	0	0	8789	536	19	1	797	1	LEPREL1	3	189692442	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105307	189692442	8329988	3576	27078											
CLDN1	9076	broad.mit.edu	37	chr3	190030679	190030679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcaagaagaaatatcgCacccccaatgacagccatcc	15	5	6	15	1	0	3	0	1	0	2	2	3	1	3	5	0	2	2	5	0	5	1	rs140846629	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190030679C>T	ENST00000295522.3	-	2	638	c.370G>A	c.(370-372)Gcg>Acg	p.A124T		NM_021101.4	NP_066924.1	O95832	CLD1_HUMAN	claudin 1	124					calcium-independent cell-cell adhesion|interspecies interaction between organisms	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity			lung(9)	9	all_cancers(143;2.95e-10)|Ovarian(172;0.0512)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.015)		AGAAATATCGCACCCCCAATG	0.458													T	190030679	C	T	190030679	3	4	364	1	0	0	0	0	1	0	0	0	3502	710	25	2	277	2	CLDN1	3	190030679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338237	190030679	7991751	3577	27079											
IL1RAP	3556	broad.mit.edu	37	chr3	190345207	190345207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgatggaaaaaaacctgatGacatcactattgatgtcacc	15	11	7	8	0	2	4	2	4	0	0	2	5	2	5	2	1	1	0	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190345207G>A	ENST00000412504.2	+	7	1123	c.871G>A	c.(871-873)Gac>Aac	p.D291N	IL1RAP_ENST00000422940.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000434491.1_Missense_Mutation_p.D150N|IL1RAP_ENST00000072516.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000422485.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000317757.3_Missense_Mutation_p.D291N|IL1RAP_ENST00000443369.2_Missense_Mutation_p.D291N|IL1RAP_ENST00000439062.1_Missense_Mutation_p.D291N|IL1RAP_ENST00000447382.1_Missense_Mutation_p.D291N			Q9NPH3	IL1AP_HUMAN	interleukin 1 receptor accessory protein	291	Ig-like C2-type 3.				inflammatory response|innate immune response|protein complex assembly	extracellular region|integral to plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	20	all_cancers(143;3.61e-10)|Ovarian(172;0.0733)|Breast(254;0.21)		Lung(62;1.95e-06)|LUSC - Lung squamous cell carcinoma(58;2.05e-06)	GBM - Glioblastoma multiforme(93;0.00851)		AAAACCTGATGACATCACTAT	0.418													A	190345207	G	A	190345207	3	1	364	1	0	0	0	0	1	0	0	0	7718	1290	45	2	893	2	IL1RAP	3	190345207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314528	190345207	7677223	3578	27080											
OSTN	344901	broad.mit.edu	37	chr3	190967869	190967869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcgatttggtatccccatgGatcggattggtagaaaccgg	9	10	14	8	3	0	1	0	0	0	1	2	4	1	3	3	6	1	2	3	6	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:190967869G>A	ENST00000339051.1	+	3	361	c.361G>A	c.(361-363)Gat>Aat	p.D121N	OSTN_ENST00000445281.1_Intron	NM_198184.1	NP_937827.1	P61366	OSTN_HUMAN	osteocrin	121					cell differentiation|multicellular organismal development|ossification		hormone activity			kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|skin(2)	13	all_cancers(143;6.79e-09)|Ovarian(172;0.103)		LUSC - Lung squamous cell carcinoma(58;2.42e-06)|Lung(62;2.86e-06)	GBM - Glioblastoma multiforme(46;0.000254)		TATCCCCATGGATCGGATTGG	0.353													A	190967869	G	A	190967869	3	1	364	1	0	0	0	0	1	0	0	0	11375	1174	41	2	371	2	OSTN	3	190967869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	622662	190967869	7054561	3579	27081											
ATP13A5	344905	broad.mit.edu	37	chr3	193081988	193081988	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtctccagtagaacaccaGcagaaggcccccacaggtca	12	4	11	14	0	2	2	1	0	1	2	3	2	2	2	4	3	2	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193081988G>A	ENST00000342358.4	-	2	262	c.145C>T	c.(145-147)Ctg>Ttg	p.L49L		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	49					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TAGAACACCAGCAGAAGGCCC	0.537													A	193081988	G	A	193081988	2	1	364	1	0	0	0	0	0	0	0	1	1132	962	34	2		2	ATP13A5	3	193081988	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2114119	193081988	4940442	3580	27082											
OPA1	4976	broad.mit.edu	37	chr3	193333519	193333519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaatataaatggattgtGcctgacattgtgtgggaaat	13	13	12	3	0	0	2	0	2	0	0	0	4	0	4	1	2	1	0	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193333519G>A	ENST00000361510.2	+	3	642	c.408G>A	c.(406-408)gtG>gtA	p.V136V	OPA1_ENST00000361150.2_Silent_p.V136V|OPA1_ENST00000392438.3_Silent_p.V136V|OPA1_ENST00000361908.3_Silent_p.V136V|OPA1_ENST00000361828.2_Silent_p.V136V|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361715.2_Silent_p.V136V	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	136					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AATGGATTGTGCCTGACATTG	0.348													A	193333519	G	A	193333519	2	1	364	1	0	0	0	0	0	0	0	1	10947	1306	46	2		2	OPA1	3	193333519	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251531	193333519	4688911	3581	27083											
OPA1	4976	broad.mit.edu	37	chr3	193336716	193336716	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatctgaaagtgacaagcaTtttagaaaggtaagtgtaaa	17	10	11	3	0	1	3	0	2	1	1	1	4	1	4	0	2	1	3	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193336716T>G	ENST00000361510.2	+	6	903	c.669T>G	c.(667-669)caT>caG	p.H223Q	OPA1_ENST00000361150.2_Missense_Mutation_p.H169Q|OPA1-AS1_ENST00000444085.1_RNA|OPA1_ENST00000392438.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361908.3_Missense_Mutation_p.H205Q|OPA1_ENST00000361828.2_Missense_Mutation_p.H223Q|OPA1-AS1_ENST00000433105.1_RNA|OPA1_ENST00000487986.1_3'UTR|OPA1_ENST00000361715.2_Missense_Mutation_p.H187Q	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	205					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GTGACAAGCATTTTAGAAAGG	0.333													G	193336716	T	G	193336716	3	3	364	1	0	0	0	0	1	0	0	0	10947	1490	52	5	691	5	OPA1	3	193336716	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3197	193336716	4685714	3582	27084											
OPA1	4976	broad.mit.edu	37	chr3	193355763	193355763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtggttggagatcagaGtgctggaaagactagtgtgt	9	13	16	3	0	1	3	1	0	0	3	1	5	1	4	0	3	1	3	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193355763G>T	ENST00000361510.2	+	11	1292	c.1058G>T	c.(1057-1059)aGt>aTt	p.S353I	OPA1_ENST00000361150.2_Missense_Mutation_p.S299I|OPA1_ENST00000392438.3_Missense_Mutation_p.S298I|OPA1_ENST00000361908.3_Missense_Mutation_p.S335I|OPA1_ENST00000361828.2_Missense_Mutation_p.S316I|OPA1_ENST00000361715.2_Missense_Mutation_p.S317I	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	298					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		GGAGATCAGAGTGCTGGAAAG	0.388													T	193355763	G	T	193355763	3	4	364	1	0	0	0	0	1	0	0	0	10947	1029	36	4	1100	4	OPA1	3	193355763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19047	193355763	4666667	3583	27085											
OPA1	4976	broad.mit.edu	37	chr3	193361390	193361390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcttacatgcagaatcCtaatgccatcatactgtgta	14	11	6	10	0	1	1	1	0	0	1	2	1	2	1	2	0	5	3	2	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193361390C>A	ENST00000361510.2	+	15	1685	c.1451C>A	c.(1450-1452)cCt>cAt	p.P484H	OPA1_ENST00000361150.2_Missense_Mutation_p.P430H|OPA1_ENST00000392438.3_Missense_Mutation_p.P429H|OPA1_ENST00000361908.3_Missense_Mutation_p.P466H|OPA1_ENST00000361828.2_Missense_Mutation_p.P447H|OPA1_ENST00000361715.2_Missense_Mutation_p.P448H	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	429					apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ATGCAGAATCCTAATGCCATC	0.328													A	193361390	C	A	193361390	3	1	364	1	0	0	0	0	1	0	0	0	10947	681	24	4	1509	4	OPA1	3	193361390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5627	193361390	4661040	3584	27086											
OPA1	4976	broad.mit.edu	37	chr3	193363415	193363415	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgttgtaacaggaaaagGtatgcaaagatggattataa	16	11	11	3	0	0	1	0	0	0	1	0	3	0	3	0	3	3	5	0	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:193363415G>A	ENST00000361510.2	+	17	1915		c.e17+1		OPA1_ENST00000361150.2_Splice_Site|OPA1_ENST00000392438.3_Splice_Site|OPA1_ENST00000361908.3_Splice_Site|OPA1_ENST00000361828.2_Splice_Site|OPA1_ENST00000361715.2_Splice_Site	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)						apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		ACAGGAAAAGGTATGCAAAGA	0.284													A	193363415	G	A	193363415	5	1	364	1	0	0	0	0	0	0	1	0	10947	1275	44	2	1748	2	OPA1	3	193363415	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2025	193363415	4659015	3585	27087											
GP5	2814	broad.mit.edu	37	chr3	194117456	194117456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaacccccagaacggaCtatgatcttgacctttgccc	13	9	6	13	1	1	3	0	2	1	1	1	4	1	4	4	1	3	0	4	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194117456C>T	ENST00000401815.1	-	1	1627	c.1556G>A	c.(1555-1557)aGt>aAt	p.S519N	GP5_ENST00000323007.3_Missense_Mutation_p.S519N			P40197	GPV_HUMAN	glycoprotein V (platelet)	519					blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CCAGAACGGACTATGATCTTG	0.522													T	194117456	C	T	194117456	3	4	364	1	0	0	0	0	1	0	0	0	6637	565	20	2	130	2	GP5	3	194117456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	754041	194117456	3904974	3586	27088											
ATP13A3	79572	broad.mit.edu	37	chr3	194154501	194154501	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttttataaagtctaacCtgtgaccatgacggtgcgaa	11	13	9	8	2	2	2	0	2	2	0	2	3	2	2	2	1	2	1	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194154501C>A	ENST00000439040.1	-	21	3036	c.2245G>T	c.(2245-2247)Ggt>Tgt	p.G749C	ATP13A3_ENST00000256031.4_Splice_Site_p.G749C			Q9H7F0	AT133_HUMAN	ATPase type 13A3	749					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		AAAGTCTAACCTGTGACCATG	0.333													A	194154501	C	A	194154501	5	1	364	1	0	0	0	0	0	0	1	0	1130	695	24	4	1487	4	ATP13A3	3	194154501	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37045	194154501	3867929	3587	27089											
ATP13A3	79572	broad.mit.edu	37	chr3	194159674	194159674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattcgattatgaagtgctgTttcttcttcagttgcttctt	7	20	7	7	1	4	1	1	1	3	0	5	2	4	1	0	0	2	4	0	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194159674T>A	ENST00000439040.1	-	17	2529	c.1738A>T	c.(1738-1740)Aca>Tca	p.T580S	ATP13A3_ENST00000256031.4_Missense_Mutation_p.T580S			Q9H7F0	AT133_HUMAN	ATPase type 13A3	580					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		TGAAGTGCTGTTTCTTCTTCA	0.383													A	194159674	T	A	194159674	3	1	364	1	0	0	0	0	1	0	0	0	1130	1725	60	5	2010	5	ATP13A3	3	194159674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5173	194159674	3862756	3588	27090											
ATP13A3	79572	broad.mit.edu	37	chr3	194162084	194162084	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcaagtggatcaccagAgagcactccttcaatttttg	12	11	8	10	0	3	2	3	0	0	2	4	4	4	3	2	1	1	1	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:194162084A>T	ENST00000439040.1	-	16	2457	c.1666T>A	c.(1666-1668)Tct>Act	p.S556T	ATP13A3_ENST00000256031.4_Missense_Mutation_p.S556T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	556					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GGATCACCAGAGAGCACTCCT	0.323													T	194162084	A	T	194162084	3	4	364	1	0	0	0	0	1	0	0	0	1130	304	11	5	2086	5	ATP13A3	3	194162084	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2410	194162084	3860346	3589	27091											
ACAP2	23527	broad.mit.edu	37	chr3	195017950	195017950	+	Frame_Shift_Del	DEL	T	T	-																															ttggggtttctttattcccaTtttttccacattagcttcat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195017950delT	ENST00000326793.6	-	16	1686	c.1456delA	c.(1456-1458)atgfs	p.M486fs		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	486	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						TTTATTCCCATTTTTTCCACA	0.313													-	195017950	T	-	195017950	7	5	364	1	0	1	0	1	0	0	0	0	119	1493	52	0	912	0	ACAP2	3	195017950	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	855866	195017950	3004480	3590	27092											
ACAP2	23527	broad.mit.edu	37	chr3	195022730	195022730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgatacacaaggtgatGcccaggttgatgctggccca	10	8	11	12	1	0	2	0	2	0	0	1	3	0	2	2	3	3	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022730G>A	ENST00000326793.6	-	14	1520	c.1290C>T	c.(1288-1290)ggC>ggT	p.G430G		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	430	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						ACAAGGTGATGCCCAGGTTGA	0.527													A	195022730	G	A	195022730	2	1	364	1	0	0	0	0	0	0	0	1	119	1306	46	2		2	ACAP2	3	195022730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4780	195022730	2999700	3591	27093											
ACAP2	23527	broad.mit.edu	37	chr3	195022752	195022752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttgatgctggcccacCgtggatctgccaggccacag	7	7	13	14	1	1	1	0	1	1	0	1	2	1	2	5	4	2	2	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195022752C>T	ENST00000326793.6	-	14	1498	c.1268G>A	c.(1267-1269)cGg>cAg	p.R423Q		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	423	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCTGGCCCACCGTGGATCTGC	0.527													T	195022752	C	T	195022752	3	4	364	1	0	0	0	0	1	0	0	0	119	652	23	1	1108	1	ACAP2	3	195022752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	195022752	2999678	3592	27094											
ACAP2	23527	broad.mit.edu	37	chr3	195053834	195053834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagaaggccaaatgggCatacataaatgacaacatct	19	7	8	7	0	1	3	0	2	1	1	1	3	1	3	1	2	2	1	1	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195053834C>T	ENST00000326793.6	-	8	822	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_012287.5	NP_036419.3	Q15057	ACAP2_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 2	198	BAR.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	27						GCCAAATGGGCATACATAAAT	0.313													T	195053834	C	T	195053834	3	4	364	1	0	0	0	0	1	0	0	0	119	710	25	2	1808	2	ACAP2	3	195053834	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31082	195053834	2968596	3593	27095											
PPP1R2	5504	broad.mit.edu	37	chr3	195256664	195256664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgctggatgatacgtcGccaagatgttcatttcatcc	8	14	9	10	2	3	2	2	1	1	1	5	3	4	3	2	1	2	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195256664G>A	ENST00000328432.3	-	2	521	c.161C>T	c.(160-162)gCg>gTg	p.A54V		NM_006241.4	NP_006232.1	P41236	IPP2_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 2	54	Required for binding PPP1CC (By similarity).				glycogen metabolic process|regulation of phosphoprotein phosphatase activity|regulation of signal transduction		protein binding|protein serine/threonine phosphatase inhibitor activity			endometrium(2)|kidney(1)|large_intestine(1)|urinary_tract(2)	6	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)		Epithelial(36;2.64e-22)|all cancers(36;2.69e-20)|OV - Ovarian serous cystadenocarcinoma(49;3.52e-19)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;9.55e-05)		ATGATACGTCGCCAAGATGTT	0.353													A	195256664	G	A	195256664	3	1	364	1	0	0	0	0	1	0	0	0	12452	1087	38	1	476	1	PPP1R2	3	195256664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202830	195256664	2765766	3594	27096											
APOD	347	broad.mit.edu	37	chr3	195300836	195300836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatttcgtaccatcttcCgagatactgcagagacaaca	13	10	6	12	2	2	2	1	0	1	2	4	4	3	2	2	0	4	2	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195300836C>T	ENST00000343267.3	-	3	491	c.130G>A	c.(130-132)Gga>Aga	p.G44R		NM_001647.3	NP_001638.1	P05090	APOD_HUMAN	apolipoprotein D	44					lipid metabolic process	extracellular space	lipid binding|lipid transporter activity|protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TACCATCTTCCGAGATACTGC	0.498													T	195300836	C	T	195300836	3	4	364	1	0	0	0	0	1	0	0	0	804	661	23	1	451	1	APOD	3	195300836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44172	195300836	2721594	3595	27097											
MUC20	200958	broad.mit.edu	37	chr3	195453068	195453068	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcaggaatccccttgaaGaaacctcagccctctctgtt	10	11	7	13	0	2	2	1	1	1	1	4	3	3	3	4	1	3	2	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195453068G>T	ENST00000320736.6	+	3	1207	c.1081G>T	c.(1081-1083)Gaa>Taa	p.E361*	MUC20_ENST00000447234.2_Nonsense_Mutation_p.E532*|MUC20_ENST00000445522.2_Nonsense_Mutation_p.E497*|MUC20_ENST00000436408.1_Nonsense_Mutation_p.E532*			Q8N307	MUC20_HUMAN	mucin 20, cell surface associated	532	12 X 20 AA approximate tandem repeats of S-S-E-S-S-A-S-S-D-S-P-H-P-V-I-T-P-S-R-A.|Ser-rich.		Missing.		protein homooligomerization	apical plasma membrane|basal plasma membrane|extracellular region|microvillus membrane				NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(1)	23	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.191)	Epithelial(36;1e-21)|all cancers(36;9.02e-20)|OV - Ovarian serous cystadenocarcinoma(49;1.6e-18)|Lung(62;0.000104)|LUSC - Lung squamous cell carcinoma(58;0.000128)	GBM - Glioblastoma multiforme(46;1.66e-05)		TCCCCTTGAAGAAACCTCAGC	0.562													T	195453068	G	T	195453068	4	4	364	1	0	0	0	0	0	1	0	0	10052	943	33	4	1091	4	MUC20	3	195453068	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152232	195453068	2569362	3596	27098											
MUC4	4585	broad.mit.edu	37	chr3	195474116	195474116	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcaaccccagaagcgcagGaccacgaacgtcccgacccc	12	1	10	18	4	0	1	0	0	0	1	1	5	1	2	6	1	4	2	6	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195474116G>T	ENST00000463781.3	-	25	16629	c.16170C>A	c.(16168-16170)gtC>gtA	p.V5390V	MUC4_ENST00000346145.4_Silent_p.V1154V|MUC4_ENST00000349607.4_Silent_p.V1103V|MUC4_ENST00000475231.1_Silent_p.V5338V	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	2147					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGAAGCGCAGGACCACGAACG	0.612													T	195474116	G	T	195474116	2	4	364	1	0	0	0	0	0	0	0	1	10054	1161	41	4		4	MUC4	3	195474116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21048	195474116	2548314	3597	27099											
MUC4	4585	broad.mit.edu	37	chr3	195480103	195480103	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagagctccccagagcTgcagagtgagtagggaggtc	12	5	16	8	0	0	4	0	1	0	3	2	6	1	6	2	3	3	4	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195480103T>C	ENST00000463781.3	-	20	15788		c.e20-2		MUC4_ENST00000346145.4_Splice_Site|MUC4_ENST00000349607.4_Splice_Site|MUC4_ENST00000475231.1_Splice_Site	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated						cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TCCCCAGAGCTGCAGAGTGAG	0.612													C	195480103	T	C	195480103	5	2	364	1	0	0	0	0	0	0	1	0	10054	1594	55	3	935	3	MUC4	3	195480103	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5987	195480103	2542327	3598	27100											
MUC4	4585	broad.mit.edu	37	chr3	195487873	195487873	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctccgtcacagttggaGatcaaatgttcagcccagga	11	10	9	11	1	4	1	3	0	1	1	5	3	4	2	2	2	1	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195487873G>T	ENST00000463781.3	-	16	15189	c.14730C>A	c.(14728-14730)atC>atA	p.I4910I	MUC4_ENST00000346145.4_Silent_p.I674I|MUC4_ENST00000349607.4_Silent_p.I623I|MUC4_ENST00000475231.1_Silent_p.I4858I	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1667					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CACAGTTGGAGATCAAATGTT	0.512													T	195487873	G	T	195487873	2	4	364	1	0	0	0	0	0	0	0	1	10054	932	33	4		4	MUC4	3	195487873	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7770	195487873	2534557	3599	27101											
MUC4	4585	broad.mit.edu	37	chr3	195515494	195515494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggggtggtgtgacctgtgGatgccgaggaagcgtaggtg	7	8	21	5	2	0	1	0	1	0	0	0	5	0	3	2	6	2	1	2	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515494G>A	ENST00000463781.3	-	2	3416	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S986F	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	991	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGACCTGTGGATGCCGAGGA	0.577													A	195515494	G	A	195515494	3	1	364	1	0	0	0	0	1	0	0	0	10054	1174	41	2		2	MUC4	3	195515494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27621	195515494	2506936	3600	27102											
MUC4	4585	broad.mit.edu	37	chr3	195515893	195515893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgggatggcaccatgaCtggctgaggcggacagcaat	10	8	14	9	1	0	2	0	2	0	0	0	4	0	4	1	5	2	3	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195515893C>T	ENST00000463781.3	-	2	3017	c.2558G>A	c.(2557-2559)aGt>aAt	p.S853N	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S853N	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	858	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGCACCATGACTGGCTGAGGC	0.567													T	195515893	C	T	195515893	3	4	364	1	0	0	0	0	1	0	0	0	10054	565	20	2		2	MUC4	3	195515893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	399	195515893	2506537	3601	27103											
MUC4	4585	broad.mit.edu	37	chr3	195516511	195516511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtggtttgtgattctTgtgtggtctgcggggcttga	3	16	15	7	2	2	2	0	2	2	0	3	2	2	2	1	4	1	2	1	4	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195516511T>C	ENST00000463781.3	-	2	2399	c.1940A>G	c.(1939-1941)cAa>cGa	p.Q647R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.Q647R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	652					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTGTGATTCTTGTGTGGTCTG	0.532													C	195516511	T	C	195516511	3	2	364	1	0	0	0	0	1	0	0	0	10054	1812	63	3		3	MUC4	3	195516511	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	618	195516511	2505919	3602	27104											
MUC4	4585	broad.mit.edu	37	chr3	195517305	195517305	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaatgtattgctgacActggaaggggatgaggtggt	11	9	16	5	0	0	2	0	2	0	0	0	5	0	5	1	6	1	2	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195517305A>G	ENST00000463781.3	-	2	1605	c.1146T>C	c.(1144-1146)agT>agC	p.S382S	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.S382S	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	387					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TATTGCTGACACTGGAAGGGG	0.453													G	195517305	A	G	195517305	2	3	364	1	0	0	0	0	0	0	0	1	10054	156	6	3		3	MUC4	3	195517305	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	794	195517305	2505125	3603	27105											
MUC4	4585	broad.mit.edu	37	chr3	195518259	195518259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatatgtcctgattagaggtCcttgaagaagctgcagttga	11	12	12	6	0	0	5	0	3	0	2	2	6	2	5	2	1	2	3	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195518259C>T	ENST00000463781.3	-	2	651	c.192G>A	c.(190-192)agG>agA	p.R64R	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Silent_p.R64R	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	64					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GATTAGAGGTCCTTGAAGAAG	0.488													T	195518259	C	T	195518259	2	4	364	1	0	0	0	0	0	0	0	1	10054	854	30	2		2	MUC4	3	195518259	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	954	195518259	2504171	3604	27106											
MUC4	4585	broad.mit.edu	37	chr3	195538617	195538617	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacttacctgggaccacAtgcggaaggaggcagagaca	13	5	12	11	1	1	1	1	0	0	1	1	5	1	4	2	4	2	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195538617A>G	ENST00000463781.3	-	1	531	c.72T>C	c.(70-72)caT>caC	p.H24H	MUC4_ENST00000346145.4_Silent_p.H24H|MUC4_ENST00000349607.4_Silent_p.H24H|MUC4_ENST00000475231.1_Silent_p.H24H|MUC4_ENST00000478685.1_5'UTR	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	24					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGGGACCACATGCGGAAGGA	0.642													G	195538617	A	G	195538617	2	3	364	1	0	0	0	0	0	0	0	1	10054	214	8	3		3	MUC4	3	195538617	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20358	195538617	2483813	3605	27107											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925736	195925736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggggttgtatccctgaaGgtgtctgcactggtcgggga	7	10	17	7	1	1	1	0	1	1	0	3	3	2	2	1	6	1	3	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:195925736G>T	ENST00000296326.3	-	6	776	c.697C>A	c.(697-699)Ctt>Att	p.L233I		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	233						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		TATCCCTGAAGGTGTCTGCAC	0.587													T	195925736	G	T	195925736	3	4	364	1	0	0	0	0	1	0	0	0	17710	1000	35	4	240	4	ZDHHC19	3	195925736	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	387119	195925736	2096694	3606	27108											
TM4SF19	116211	broad.mit.edu	37	chr3	196050709	196050709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctcgcagaggctgcaGaaaaggcccaggaggctgtt	10	7	13	11	1	1	2	0	0	1	2	2	3	1	3	1	4	1	5	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196050709G>T	ENST00000446879.1	-	5	730	c.605C>A	c.(604-606)tCt>tAt	p.S202Y	TM4SF19-AS1_ENST00000444939.1_RNA|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.F203L|TM4SF19_ENST00000273695.3_Missense_Mutation_p.F203L|TM4SF19_ENST00000454715.1_Missense_Mutation_p.F177L			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	0						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AGAGGCTGCAGAAAAGGCCCA	0.537													T	196050709	G	T	196050709	3	4	364	1	0	0	0	0	1	0	0	0	16068	933	33	4	24	4	TM4SF19	3	196050709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124973	196050709	1971721	3607	27109											
TM4SF19	116211	broad.mit.edu	37	chr3	196051280	196051280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatcagggctccaagtaaaGccaggccacctgacaacaga	16	4	9	12	0	1	2	1	1	0	1	2	2	2	2	4	2	2	2	4	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196051280G>A	ENST00000446879.1	-	4	436	c.311C>T	c.(310-312)gCt>gTt	p.A104V	TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19_ENST00000442633.1_Missense_Mutation_p.A104V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A104V|TM4SF19_ENST00000454715.1_Missense_Mutation_p.A78V			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	104						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TCCAAGTAAAGCCAGGCCACC	0.517													A	196051280	G	A	196051280	3	1	364	1	0	0	0	0	1	0	0	0	16068	971	34	2	326	2	TM4SF19	3	196051280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	571	196051280	1971150	3608	27110											
TM4SF19	116211	broad.mit.edu	37	chr3	196053893	196053893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaggagatgaggatagctGcagtgagtacctgcaggaga	13	7	15	6	0	1	4	1	2	0	2	1	7	1	5	1	3	4	4	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196053893G>A	ENST00000446879.1	-	3	337	c.212C>T	c.(211-213)gCa>gTa	p.A71V	TM4SF19_ENST00000442633.1_Missense_Mutation_p.A71V|TM4SF19_ENST00000273695.3_Missense_Mutation_p.A71V|TM4SF19_ENST00000454715.1_Intron			Q96DZ7	T4S19_HUMAN	transmembrane 4 L six family member 19	71						integral to membrane				endometrium(2)|kidney(2)|large_intestine(3)|lung(5)	12	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;4.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		GAGGATAGCTGCAGTGAGTAC	0.532													A	196053893	G	A	196053893	3	1	364	1	0	0	0	0	1	0	0	0	16068	1319	46	2	429	2	TM4SF19	3	196053893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2613	196053893	1968537	3609	27111											
UBXN7	26043	broad.mit.edu	37	chr3	196089299	196089299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactggtggctcagtcagcGgccttctattctcctctttt	4	16	9	12	1	5	1	2	1	3	0	6	1	5	1	2	3	1	1	2	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196089299G>A	ENST00000296328.4	-	9	1168	c.1094C>T	c.(1093-1095)cCg>cTg	p.P365L	UBXN7_ENST00000428095.1_Missense_Mutation_p.P203L|UBXN7_ENST00000535858.1_Missense_Mutation_p.P217L	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	365							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTCAGTCAGCGGCCTTCTATT	0.483													A	196089299	G	A	196089299	3	1	364	1	0	0	0	0	1	0	0	0	17020	1116	39	1	387	1	UBXN7	3	196089299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35406	196089299	1933131	3610	27112											
PIGX	54965	broad.mit.edu	37	chr3	196454886	196454886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccagacgagattcacaGtgcattgactgttttcaagc	11	12	9	9	1	2	3	2	1	0	2	2	4	2	3	1	0	3	2	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196454886G>T	ENST00000314118.4	+	4	570	c.288G>T	c.(286-288)caG>caT	p.Q96H	PIGX_ENST00000541663.1_Missense_Mutation_p.Q29H|PIGX_ENST00000421265.1_Missense_Mutation_p.Q96H	NM_017861.3	NP_060331.3	Q8TBF5	PIGX_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class X	137					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(5)|lung(4)|stomach(1)	11	all_cancers(143;1.41e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;1.08e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00322)		GAGATTCACAGTGCATTGACT	0.448													T	196454886	G	T	196454886	3	4	364	1	0	0	0	0	1	0	0	0	11980	1020	36	4	425	4	PIGX	3	196454886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	365587	196454886	1567544	3611	27113											
NCBP2	22916	broad.mit.edu	37	chr3	196663927	196663927	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcctcctctcccagcatcGtagtcctgccgatactcatc	7	11	6	17	2	2	0	1	0	1	0	7	1	4	0	5	0	4	2	5	0	3	3	rs151326192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196663927G>A	ENST00000447325.1	-	4	565	c.216C>T	c.(214-216)taC>taT	p.Y72Y	NCBP2_ENST00000452404.2_Silent_p.Y124Y|NCBP2_ENST00000422610.1_Silent_p.Y72Y|NCBP2_ENST00000427641.2_Silent_p.Y89Y|NCBP2_ENST00000321256.5_Silent_p.Y142Y|NCBP2_ENST00000467803.1_5'UTR			P52298	NCBP2_HUMAN	nuclear cap binding protein subunit 2, 20kDa	142	RRM.				gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of RNA export from nucleus|positive regulation of viral transcription|regulation of translational initiation|snRNA export from nucleus|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm	nucleotide binding|protein binding|RNA 7-methylguanosine cap binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)	5	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.42e-24)|all cancers(36;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(49;4.13e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00551)		TCCCAGCATCGTAGTCCTGCC	0.453													A	196663927	G	A	196663927	2	1	364	1	0	0	0	0	0	0	0	1	10288	1140	40	1		1	NCBP2	3	196663927	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209041	196663927	1358503	3612	27114											
MFI2	4241	broad.mit.edu	37	chr3	196751283	196751283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgtggcaggacttcacGcctttcagggtgtcaatggt	6	11	13	11	2	3	0	3	0	0	0	3	1	3	1	2	4	0	1	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196751283G>A	ENST00000296350.5	-	4	491	c.378C>T	c.(376-378)ggC>ggT	p.G126G	MFI2_ENST00000296351.4_Silent_p.G126G	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	126	Transferrin-like 1.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		AGGACTTCACGCCTTTCAGGG	0.637													A	196751283	G	A	196751283	2	1	364	1	0	0	0	0	0	0	0	1	9597	1074	38	1		1	MFI2	3	196751283	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87356	196751283	1271147	3613	27115											
DLG1	1739	broad.mit.edu	37	chr3	196857544	196857545	+	Splice_Site	INS	-	-	A																															taaacatacgttattcacctINSaaaaaaagtcccaaaagaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:196857544_196857545insA	ENST00000346964.2	-	12	1309		c.e12-2		DLG1_ENST00000443183.1_Splice_Site|DLG1_ENST00000448528.2_Splice_Site|DLG1_ENST00000357674.4_Splice_Site|DLG1_ENST00000314062.3_Splice_Site|DLG1_ENST00000450955.1_Splice_Site|DLG1_ENST00000392382.2_Splice_Site|DLG1_ENST00000422288.1_Splice_Site|DLG1_ENST00000452595.1_Splice_Site|DLG1_ENST00000419354.1_Splice_Site	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)						actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		GTTATTCACCTAAAAAAAGTCC	0.332													A	196857545	-	A	196857544	8	5	364	1	0	1	1	0	0	0	1	0	4593	1536	53	0	1760	0	DLG1	3	196857544	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	106261	196857544	1164886	3614	27116											
BDH1	622	broad.mit.edu	37	chr3	197249573	197249573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctccacctcttcgctgCtgcagacattgagctggacg	6	12	9	14	2	2	2	0	1	2	1	4	3	2	3	2	1	3	4	2	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197249573C>T	ENST00000392379.1	-	6	748	c.347G>A	c.(346-348)aGc>aAc	p.S116N	BDH1_ENST00000392378.2_Missense_Mutation_p.S116N|BDH1_ENST00000358186.2_Missense_Mutation_p.S116N|BDH1_ENST00000441275.1_Missense_Mutation_p.S29N	NM_203314.2	NP_976059.1	Q02338	BDH_HUMAN	3-hydroxybutyrate dehydrogenase, type 1	116				CS -> FR (in Ref. 1; AAA58352).	cellular lipid metabolic process|ketone body biosynthetic process|ketone body catabolic process	mitochondrial matrix	3-hydroxybutyrate dehydrogenase activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	all_cancers(143;3.35e-10)|Ovarian(172;0.0418)|Breast(254;0.0437)	Lung NSC(153;0.118)	Epithelial(36;3.52e-24)|all cancers(36;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;2.32e-19)|LUSC - Lung squamous cell carcinoma(58;1.02e-06)|Lung(62;1.34e-06)	GBM - Glioblastoma multiforme(93;0.0977)	NADH(DB00157)	CTCTTCGCTGCTGCAGACATT	0.582													T	197249573	C	T	197249573	3	4	364	1	0	0	0	0	1	0	0	0	1395	797	28	2	696	2	BDH1	3	197249573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392029	197249573	772857	3615	27117											
KIAA0226	9711	broad.mit.edu	37	chr3	197402330	197402330	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggagctcaaagggaaaGatgatgtcatcctcattctg	12	12	10	7	0	4	2	3	1	1	1	5	4	5	4	1	2	1	1	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197402330G>T	ENST00000273582.5	-	20	3113	c.2568C>A	c.(2566-2568)atC>atA	p.I856I	KIAA0226_ENST00000296343.5_Silent_p.I901I	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	901					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		CAAAGGGAAAGATGATGTCAT	0.537													T	197402330	G	T	197402330	2	4	364	1	0	0	0	0	0	0	0	1	8220	932	33	4		4	KIAA0226	3	197402330	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152757	197402330	620100	3616	27118											
KIAA0226	9711	broad.mit.edu	37	chr3	197430514	197430514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatgagcgtcacttagcaGgaaggcagcatctggggaga	12	6	15	8	1	2	2	1	1	1	1	2	5	2	3	0	4	3	3	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197430514G>T	ENST00000273582.5	-	5	840	c.295C>A	c.(295-297)Ctg>Atg	p.L99M	KIAA0226_ENST00000389665.5_Missense_Mutation_p.L159M|KIAA0226_ENST00000467303.1_5'UTR|KIAA0226_ENST00000449205.1_Missense_Mutation_p.L159M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.L159M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	159	RUN.				autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCACTTAGCAGGAAGGCAGCA	0.562													T	197430514	G	T	197430514	3	4	364	1	0	0	0	0	1	0	0	0	8220	991	35	4	2556	4	KIAA0226	3	197430514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28184	197430514	591916	3617	27119											
KIAA0226	9711	broad.mit.edu	37	chr3	197444953	197444953	+	Silent	SNP	A	A	C																															gggctgttggttgataccaaAccctccaccgtcgtcttcaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444953A>C	ENST00000389665.5	-	2	296	c.114T>G	c.(112-114)ggT>ggG	p.G38G	KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000273582.5_5'UTR|KIAA0226_ENST00000449205.1_Silent_p.G38G|KIAA0226_ENST00000296343.5_Silent_p.G38G			Q92622	RUBIC_HUMAN	KIAA0226	38					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TTGATACCAAACCCTCCACCG	0.522													C	197444953	A	C	197444953	2	2	364	1	0	0	0	0	0	0	0	1	8220	30	2	5		5	KIAA0226	3	197444953	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14439	197444953	577477	3618	27120	57	2									
KIAA0226	9711	broad.mit.edu	37	chr3	197444963	197444963	+	Translation_Start_Site	SNP	G	G	A																															ttgataccaaaccctccaccGtcgtcttcaaattacccagc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197444963G>A	ENST00000273582.5	-	0	469				KIAA0226_ENST00000389665.5_Missense_Mutation_p.T35M|KIAA0226_ENST00000467303.1_Intron|KIAA0226_ENST00000449205.1_Missense_Mutation_p.T35M|KIAA0226_ENST00000296343.5_Missense_Mutation_p.T35M	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226						autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		ACCCTCCACCGTCGTCTTCAA	0.512													A	197444963	G	A	197444963	1	1	364	1	0	0	0	0	0	0	0	0	8220	1145	40	1		1	KIAA0226	3	197444963	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	197444963	577467	3619	27121	57	2									
LRCH3	84859	broad.mit.edu	37	chr3	197559185	197559185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttggtagtaacaaacggcGgaggtaaacataattccggt	13	10	12	6	3	0	0	0	0	0	0	1	1	1	1	1	5	3	4	1	5	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197559185G>A	ENST00000438796.2	+	8	1143	c.1099G>A	c.(1099-1101)Gga>Aga	p.G367R	LRCH3_ENST00000414675.2_Missense_Mutation_p.G367R|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000441090.2_Missense_Mutation_p.G241R|LRCH3_ENST00000425562.2_Missense_Mutation_p.G367R|LRCH3_ENST00000334859.4_Missense_Mutation_p.G367R			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	367						extracellular region				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AACAAACGGCGGAGGTAAACA	0.408													A	197559185	G	A	197559185	3	1	364	1	0	0	0	0	1	0	0	0	9004	1117	39	1	1129	1	LRCH3	3	197559185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114222	197559185	463245	3620	27122											
LMLN	89782	broad.mit.edu	37	chr3	197702952	197702952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagacttttcaggtccGtcgacctgcgggcactatct	9	10	11	11	3	2	2	1	0	1	2	4	4	3	2	2	2	1	1	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197702952G>A	ENST00000330198.4	+	4	423	c.401G>A	c.(400-402)cGt>cAt	p.R134H	LMLN_ENST00000420910.2_Missense_Mutation_p.R134H|LMLN_ENST00000482695.1_Missense_Mutation_p.R82H|LMLN_ENST00000332636.5_Missense_Mutation_p.R82H	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	134					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTTCAGGTCCGTCGACCTGCG	0.363													A	197702952	G	A	197702952	3	1	364	1	0	0	0	0	1	0	0	0	8908	1145	40	1	415	1	LMLN	3	197702952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143767	197702952	319478	3621	27123											
LMLN	89782	broad.mit.edu	37	chr3	197762722	197762722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttcttgttctcctcaaGgtctgaaagtttgggtccaa	8	15	10	8	0	4	1	1	1	3	0	6	1	5	1	2	3	0	3	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr3:197762722G>T	ENST00000330198.4	+	15	1697	c.1675G>T	c.(1675-1677)Ggt>Tgt	p.G559C	LMLN_ENST00000420910.2_Missense_Mutation_p.G596C|LMLN_ENST00000482695.1_Missense_Mutation_p.G544C|LMLN_ENST00000332636.5_Missense_Mutation_p.G507C	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	559					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCTCCTCAAGGTCTGAAAGT	0.383													T	197762722	G	T	197762722	3	4	364	1	0	0	0	0	1	0	0	0	8908	1000	35	4	1848	4	LMLN	3	197762722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59770	197762722	259708	3622	27124											
ZNF721	170960	broad.mit.edu	37	chr4	437125	437125	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgaattttcttgtgttgAttcagggctgtgtaccgtcc	6	17	11	7	1	2	2	1	2	1	0	3	2	3	2	2	1	1	4	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:437125A>G	ENST00000338977.5	-	2	1143	c.1095T>C	c.(1093-1095)aaT>aaC	p.N365N	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Silent_p.N377N|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TCTTGTGTTGATTCAGGGCTG	0.408													G	437125	A	G	437125	2	3	364	1	0	0	0	0	0	0	0	1	18223	330	12	3		3	ZNF721	4	437125	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08		437125	190717151	3623	27125											
ZNF721	170960	broad.mit.edu	37	chr4	438011	438011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacacgtgcattacatTgaaatattttgctctgagta	11	16	7	7	1	1	3	0	3	1	0	1	3	1	3	0	0	3	3	0	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:438011T>C	ENST00000338977.5	-	2	257	c.209A>G	c.(208-210)cAa>cGa	p.Q70R	ZNF721_ENST00000506646.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.Q82R|ZNF721_ENST00000507078.1_Intron|ABCA11P_ENST00000451020.2_RNA					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TGCATTACATTGAAATATTTT	0.318													C	438011	T	C	438011	3	2	364	1	0	0	0	0	1	0	0	0	18223	1812	63	3	2530	3	ZNF721	4	438011	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	886	438011	190716265	3624	27126											
PIGG	54872	broad.mit.edu	37	chr4	515627	515627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctacttctgtggcctctCgtggctggcggcaggtgggg	2	11	18	10	2	2	0	0	0	2	0	3	0	2	0	1	7	2	3	1	7	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:515627C>T	ENST00000453061.2	+	8	1617	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PIGG_ENST00000383028.4_Missense_Mutation_p.S371L|PIGG_ENST00000509768.1_Missense_Mutation_p.S415L|PIGG_ENST00000504346.1_Missense_Mutation_p.S415L|PIGG_ENST00000310340.5_Missense_Mutation_p.S496L|PIGG_ENST00000536264.1_3'UTR|PIGG_ENST00000503111.1_3'UTR|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	504					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						TGTGGCCTCTCGTGGCTGGCG	0.562													T	515627	C	T	515627	3	4	364	1	0	0	0	0	1	0	0	0	11965	893	31	1	1541	1	PIGG	4	515627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77616	515627	190638649	3625	27127											
PDE6B	5158	broad.mit.edu	37	chr4	619547	619547	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgggtgcccgccggactgCgacagcctccgggacctctg	5	5	15	16	5	1	0	0	0	1	0	2	4	2	2	5	3	3	0	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:619547C>T	ENST00000255622.6	+	1	175	c.132C>T	c.(130-132)tgC>tgT	p.C44C	PDE6B_ENST00000496514.1_Silent_p.C44C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	44					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CGCCGGACTGCGACAGCCTCC	0.632													T	619547	C	T	619547	2	4	364	1	0	0	0	0	0	0	0	1	11722	776	27	1		1	PDE6B	4	619547	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103920	619547	190534729	3626	27128											
PDE6B	5158	broad.mit.edu	37	chr4	651256	651256	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctttaccacgtgaagtgCgacagggacgagatccagct	10	8	12	11	3	0	2	0	1	0	1	2	5	2	3	3	1	3	1	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:651256C>T	ENST00000255622.6	+	10	1417	c.1374C>T	c.(1372-1374)tgC>tgT	p.C458C	PDE6B_ENST00000429163.2_Silent_p.C179C|PDE6B_ENST00000496514.1_Silent_p.C458C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	458					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACGTGAAGTGCGACAGGGACG	0.617													T	651256	C	T	651256	2	4	364	1	0	0	0	0	0	0	0	1	11722	776	27	1		1	PDE6B	4	651256	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31709	651256	190503020	3627	27129											
PDE6B	5158	broad.mit.edu	37	chr4	652779	652779	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaaggagcctgctgactgCgatgaggacgagctgggcga	9	5	19	8	3	0	2	0	2	0	0	0	8	0	5	1	4	4	2	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:652779C>T	ENST00000255622.6	+	11	1483	c.1440C>T	c.(1438-1440)tgC>tgT	p.C480C	PDE6B_ENST00000429163.2_Silent_p.C201C|PDE6B_ENST00000496514.1_Silent_p.C480C	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	480					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CTGCTGACTGCGATGAGGACG	0.602													T	652779	C	T	652779	2	4	364	1	0	0	0	0	0	0	0	1	11722	776	27	1		1	PDE6B	4	652779	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1523	652779	190501497	3628	27130											
PDE6B	5158	broad.mit.edu	37	chr4	656910	656910	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagaaccccttggctaaGctccacggctcctcgatttt	7	11	7	16	2	0	1	0	0	0	1	4	2	3	1	5	2	2	3	5	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:656910G>A	ENST00000255622.6	+	15	1897	c.1854G>A	c.(1852-1854)aaG>aaA	p.K618K	PDE6B_ENST00000429163.2_Silent_p.K339K|PDE6B_ENST00000496514.1_Silent_p.K618K	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	618					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						CCTTGGCTAAGCTCCACGGCT	0.632													A	656910	G	A	656910	2	1	364	1	0	0	0	0	0	0	0	1	11722	962	34	2		2	PDE6B	4	656910	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4131	656910	190497366	3629	27131											
GAK	2580	broad.mit.edu	37	chr4	845717	845717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgcctttgggcgtggtgGccgttttgggaatgaagccc	4	12	16	9	2	0	1	0	1	0	0	0	2	0	2	3	4	3	2	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:845717G>A	ENST00000314167.4	-	25	3439	c.3329C>T	c.(3328-3330)gCc>gTc	p.A1110V	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A1031V	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	1110					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		GGGCGTGGTGGCCGTTTTGGG	0.642													A	845717	G	A	845717	3	1	364	1	0	0	0	0	1	0	0	0	6249	1203	42	2	622	2	GAK	4	845717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188807	845717	190308559	3630	27132											
GAK	2580	broad.mit.edu	37	chr4	864679	864679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttgaatgtcacacgCgtccaggtcatacctgcggt	7	14	9	11	3	3	1	2	1	1	0	4	1	4	1	2	2	2	0	2	2	2	4	rs140022645	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:864679C>T	ENST00000314167.4	-	19	2178	c.2068G>A	c.(2068-2070)Gcg>Acg	p.A690T	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.A611T	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	690	C2 tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		ATGTCACACGCGTCCAGGTCA	0.512													T	864679	C	T	864679	3	4	364	1	0	0	0	0	1	0	0	0	6249	768	27	1	1907	1	GAK	4	864679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18962	864679	190289597	3631	27133											
GAK	2580	broad.mit.edu	37	chr4	877247	877247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttctgctgggaatgaCatcactgaaacaagcagacc	14	7	8	12	0	2	3	1	2	1	1	2	4	2	4	2	1	3	2	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:877247C>T	ENST00000314167.4	-	13	1370	c.1260G>A	c.(1258-1260)atG>atA	p.M420I	GAK_ENST00000511163.1_Missense_Mutation_p.M341I	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	420	Phosphatase tensin-type.				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CTGGGAATGACATCACTGAAA	0.602													T	877247	C	T	877247	3	4	364	1	0	0	0	0	1	0	0	0	6249	478	17	2	2739	2	GAK	4	877247	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12568	877247	190277029	3632	27134											
DGKQ	1609	broad.mit.edu	37	chr4	955517	955517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccttcaatactgggcagCtccacctcctgccgctccac	7	8	8	18	1	1	0	1	0	0	0	4	0	4	0	6	2	3	3	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:955517C>A	ENST00000273814.3	-	20	2494	c.2421G>T	c.(2419-2421)gaG>gaT	p.E807D		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	807					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TACTGGGCAGCTCCACCTCCT	0.652													A	955517	C	A	955517	3	1	364	1	0	0	0	0	1	0	0	0	4512	796	28	4	423	4	DGKQ	4	955517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78270	955517	190198759	3633	27135											
FGFRL1	53834	broad.mit.edu	37	chr4	1018732	1018732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgtggcctcctcgtcctCggccactagcctgccgtggc	3	9	11	18	3	0	0	0	0	0	0	4	0	2	0	7	3	2	0	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018732C>T	ENST00000398484.2	+	8	1692	c.1112C>T	c.(1111-1113)tCg>tTg	p.S371L	FGFRL1_ENST00000510644.1_Missense_Mutation_p.S371L|FGFRL1_ENST00000504138.1_Missense_Mutation_p.S371L|FGFRL1_ENST00000264748.6_Missense_Mutation_p.S371L			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	371					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			TCCTCGTCCTCGGCCACTAGC	0.647													T	1018732	C	T	1018732	3	4	364	1	0	0	0	0	1	0	0	0	5918	893	31	1	1134	1	FGFRL1	4	1018732	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63215	1018732	190135544	3634	27136											
FGFRL1	53834	broad.mit.edu	37	chr4	1018775	1018775	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtcatcggcatcccagcCggcgctgtcttcatcctggg	4	10	13	14	3	3	0	2	0	1	0	6	0	5	0	3	4	1	2	3	4	0	1	rs140148549		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1018775C>T	ENST00000398484.2	+	8	1735	c.1155C>T	c.(1153-1155)gcC>gcT	p.A385A	FGFRL1_ENST00000510644.1_Silent_p.A385A|FGFRL1_ENST00000504138.1_Silent_p.A385A|FGFRL1_ENST00000264748.6_Silent_p.A385A			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	385					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GCATCCCAGCCGGCGCTGTCT	0.697													T	1018775	C	T	1018775	2	4	364	1	0	0	0	0	0	0	0	1	5918	639	23	1		1	FGFRL1	4	1018775	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43	1018775	190135501	3635	27137											
SPON2	10417	broad.mit.edu	37	chr4	1164196	1164196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtccgttacctgaggCgctgtctacaatctcattgt	7	15	9	10	2	2	1	1	1	2	0	4	1	3	1	2	1	2	3	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1164196C>T	ENST00000290902.5	-	5	1137	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPON2_ENST00000431380.1_Missense_Mutation_p.A269T	NM_012445.3	NP_036577	Q9BUD6	SPON2_HUMAN	spondin 2, extracellular matrix protein	269					axon guidance|cell adhesion|innate immune response	proteinaceous extracellular matrix	metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|pancreas(1)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(23;0.00805)	UCEC - Uterine corpus endometrioid carcinoma (64;0.139)|Colorectal(103;0.19)		TTACCTGAGGCGCTGTCTACA	0.617													T	1164196	C	T	1164196	3	4	364	1	0	0	0	0	1	0	0	0	15179	768	27	1	198	1	SPON2	4	1164196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145421	1164196	189990080	3636	27138											
CTBP1	1487	broad.mit.edu	37	chr4	1206156	1206156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcgctggggacgatacCttccacagcagctgggatgc	8	7	14	12	2	0	0	0	0	0	0	1	3	1	2	2	4	4	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1206156C>A	ENST00000382952.3	-	10	1546	c.1162G>T	c.(1162-1164)Ggt>Tgt	p.G388C	CTBP1_ENST00000290921.6_Missense_Mutation_p.G399C	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	399					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GGGACGATACCTTCCACAGCA	0.711													A	1206156	C	A	1206156	3	1	364	1	0	0	0	0	1	0	0	0	4030	681	24	4	131	4	CTBP1	4	1206156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41960	1206156	189948120	3637	27139											
CTBP1	1487	broad.mit.edu	37	chr4	1209931	1209931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatccgacaagtaagggtCgtagaagagcacgttgaagc	13	6	13	9	3	0	3	0	1	0	2	2	4	1	3	2	1	2	4	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1209931C>T	ENST00000382952.3	-	6	961	c.577G>A	c.(577-579)Gac>Aac	p.D193N	CTBP1_ENST00000290921.6_Missense_Mutation_p.D204N	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	204					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		AAGTAAGGGTCGTAGAAGAGC	0.652													T	1209931	C	T	1209931	3	4	364	1	0	0	0	0	1	0	0	0	4030	884	31	1	732	1	CTBP1	4	1209931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3775	1209931	189944345	3638	27140											
CTBP1	1487	broad.mit.edu	37	chr4	1232011	1232011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggactgcgcgtcgcagaagGccacagtggccacgtccttc	7	7	13	14	4	0	1	0	0	0	1	3	2	1	2	3	3	1	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1232011G>A	ENST00000510568.1	-	2	713	c.122C>T	c.(121-123)gCc>gTc	p.A41V	CTBP1_ENST00000515690.1_5'UTR|CTBP1_ENST00000290921.6_Missense_Mutation_p.A52V|CTBP1_ENST00000382952.3_Missense_Mutation_p.A41V			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	52	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		GTCGCAGAAGGCCACAGTGGC	0.657													A	1232011	G	A	1232011	3	1	364	1	0	0	0	0	1	0	0	0	4030	1203	42	2	1199	2	CTBP1	4	1232011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22080	1232011	189922265	3639	27141											
MAEA	10296	broad.mit.edu	37	chr4	1316186	1316186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggacctagtgaatattgaGatgttcctgacggccaaaga	14	9	11	7	1	0	4	0	3	0	2	1	6	1	5	3	2	0	1	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1316186G>A	ENST00000303400.4	+	4	537	c.474G>A	c.(472-474)gaG>gaA	p.E158E	MAEA_ENST00000514708.1_Intron|MAEA_ENST00000452175.2_Silent_p.E79E|MAEA_ENST00000505177.2_Silent_p.E158E|MAEA_ENST00000505839.1_Silent_p.E110E|MAEA_ENST00000510794.1_Silent_p.E157E|MAEA_ENST00000264750.6_Intron	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	158					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			TGAATATTGAGATGTTCCTGA	0.597													A	1316186	G	A	1316186	2	1	364	1	0	0	0	0	0	0	0	1	9224	933	33	2		2	MAEA	4	1316186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84175	1316186	189838090	3640	27142											
MAEA	10296	broad.mit.edu	37	chr4	1332393	1332393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgcccaacggctacgtCtacggctacaatgtgagggg	9	8	13	11	3	1	1	0	1	1	0	1	1	1	1	1	4	6	3	1	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1332393C>T	ENST00000303400.4	+	8	1146	c.1083C>T	c.(1081-1083)gtC>gtT	p.V361V	MAEA_ENST00000512289.1_3'UTR|MAEA_ENST00000514708.1_Silent_p.V293V|MAEA_ENST00000452175.2_Silent_p.V282V|MAEA_ENST00000505177.2_Silent_p.V399V|MAEA_ENST00000505839.1_Silent_p.V313V|MAEA_ENST00000510794.1_Silent_p.V360V|MAEA_ENST00000264750.6_Silent_p.V320V	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	361					cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			ACGGCTACGTCTACGGCTACA	0.662													T	1332393	C	T	1332393	2	4	364	1	0	0	0	0	0	0	0	1	9224	900	32	2		2	MAEA	4	1332393	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16207	1332393	189821883	3641	27143											
CRIPAK	285464	broad.mit.edu	37	chr4	1389271	1389271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcccgcctgctcacacGtgccattgtggagtgcccgc	5	8	13	15	3	1	0	1	0	0	0	1	2	1	1	4	1	4	1	4	1	0	1	rs71299249		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1389271G>A	ENST00000324803.4	+	1	3932	c.972G>A	c.(970-972)acG>acA	p.T324T		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	324					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CTGCTCACACGTGCCATTGTG	0.667													A	1389271	G	A	1389271	2	1	364	1	0	0	0	0	0	0	0	1	3908	1132	40	1		1	CRIPAK	4	1389271	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56878	1389271	189765005	3642	27144											
TACC3	10460	broad.mit.edu	37	chr4	1729693	1729693	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggaaaaccttagttcCtattccttagacagaagagt	13	11	10	7	0	0	3	0	0	0	3	2	5	2	5	3	2	1	1	3	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1729693C>A	ENST00000313288.4	+	4	670	c.564C>A	c.(562-564)tcC>tcA	p.S188S		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	188						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			ACCTTAGTTCCTATTCCTTAG	0.557													A	1729693	C	A	1729693	2	1	364	1	0	0	0	0	0	0	0	1	15600	668	24	4		4	TACC3	4	1729693	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340422	1729693	189424583	3643	27145											
TACC3	10460	broad.mit.edu	37	chr4	1746548	1746548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtcgctggagaagacaGtggagcagaaggtgggtgcg	10	6	18	7	2	0	3	0	0	0	3	2	5	1	4	1	4	2	2	1	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1746548G>A	ENST00000313288.4	+	15	2546	c.2440G>A	c.(2440-2442)Gtg>Atg	p.V814M		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	814						centrosome				central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			GGAGAAGACAGTGGAGCAGAA	0.657													A	1746548	G	A	1746548	3	1	364	1	0	0	0	0	1	0	0	0	15600	1029	36	2	2494	2	TACC3	4	1746548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16855	1746548	189407728	3644	27146											
FGFR3	2261	broad.mit.edu	37	chr4	1800986	1800986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcttccccacagaagtcCcgggcccagagcccggccag	8	4	10	19	2	1	2	0	0	1	2	3	2	3	2	7	2	1	0	7	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1800986C>A	ENST00000340107.4	+	3	371	c.115C>A	c.(115-117)Ccg>Acg	p.P39T	FGFR3_ENST00000260795.2_Missense_Mutation_p.P39T|FGFR3_ENST00000412135.2_Missense_Mutation_p.P39T|FGFR3_ENST00000440486.2_Missense_Mutation_p.P39T|FGFR3_ENST00000481110.2_Missense_Mutation_p.P39T|FGFR3_ENST00000352904.1_Missense_Mutation_p.P39T	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	39	Ig-like C2-type 1.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	CACAGAAGTCCCGGGCCCAGA	0.682		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				A	1800986	C	A	1800986	3	1	364	1	0	0	0	0	1	0	0	0	5916	623	22	4	121	4	FGFR3	4	1800986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54438	1800986	189353290	3645	27147											
FGFR3	2261	broad.mit.edu	37	chr4	1808273	1808273	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctcaccttcccctgcagCtggtcctttggggtcctgct	3	12	10	16	0	1	0	1	0	0	0	4	1	4	0	6	3	3	3	6	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1808273C>T	ENST00000340107.4	+	16	2293	c.2037C>T	c.(2035-2037)gtC>gtT	p.V679V	FGFR3_ENST00000260795.2_Splice_Site_p.V677V|FGFR3_ENST00000412135.2_Splice_Site_p.V565V|FGFR3_ENST00000440486.2_Splice_Site_p.V677V|FGFR3_ENST00000481110.2_Splice_Site_p.L655L|FGFR3_ENST00000352904.1_Splice_Site_p.V565V	NM_001163213.1	NP_001156685.1	P22607	FGFR3_HUMAN	fibroblast growth factor receptor 3	677	Protein kinase.				bone maturation|cell growth|insulin receptor signaling pathway|JAK-STAT cascade|MAPKKK cascade|negative regulation of developmental growth|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|identical protein binding			NS(1)|central_nervous_system(5)|cervix(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(40)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(9)|skin(339)|soft_tissue(4)|testis(2)|upper_aerodigestive_tract(58)|urinary_tract(2607)	3091		Breast(71;0.212)|all_epithelial(65;0.241)	all cancers(2;0.000145)|OV - Ovarian serous cystadenocarcinoma(23;0.0019)|Epithelial(3;0.00221)|GBM - Glioblastoma multiforme(2;0.234)		Palifermin(DB00039)	TCCCCTGCAGCTGGTCCTTTG	0.672		1	"Mis, T"	"IGH@, ETV6"	"bladder, MM, T-cell lymphoma"		"Hypochondroplasia, Thanatophoric dysplasia"		Saethre-Chotzen syndrome;Muenke syndrome				T	1808273	C	T	1808273	5	4	364	1	0	0	0	0	0	0	1	0	5916	811	28	2	2244	2	FGFR3	4	1808273	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7287	1808273	189346003	3646	27148											
WHSC1	7468	broad.mit.edu	37	chr4	1932478	1932478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttgccctggtggcccctgtCcaggctgaagaagactctgg	6	10	13	12	0	1	3	0	1	1	2	2	3	2	3	4	4	1	1	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:1932478C>T	ENST00000503128.1	+	6	1743	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	WHSC1_ENST00000398261.1_Silent_p.V512V|WHSC1_ENST00000420906.2_Silent_p.V512V|WHSC1_ENST00000514045.1_Silent_p.V512V|WHSC1_ENST00000382891.5_Silent_p.V512V|WHSC1_ENST00000382895.3_Silent_p.V512V|WHSC1_ENST00000508803.1_Silent_p.V512V|WHSC1_ENST00000382892.2_Silent_p.V512V			O96028	NSD2_HUMAN	Wolf-Hirschhorn syndrome candidate 1	512					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|cytoplasm|nuclear membrane|nucleolus	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(14)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	48		all_epithelial(65;1.34e-05)	OV - Ovarian serous cystadenocarcinoma(23;0.00606)	STAD - Stomach adenocarcinoma(129;0.232)		TGGCCCCTGTCCAGGCTGAAG	0.517			T	IGH@	MM								T	1932478	C	T	1932478	2	4	364	1	0	0	0	0	0	0	0	1	17464	842	30	2		2	WHSC1	4	1932478	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124205	1932478	189221798	3647	27149											
NAT8L	339983	broad.mit.edu	37	chr4	2065625	2065625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagggcatcgccaaggCgctgggccggaaggtgctgg	8	4	19	10	3	0	0	0	0	0	0	1	1	0	1	2	7	1	4	2	7	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2065625C>T	ENST00000423729.2	+	3	680	c.680C>T	c.(679-681)gCg>gTg	p.A227V	NAT8L_ENST00000331662.3_Missense_Mutation_p.A59V	NM_178557.3	NP_848652.2	Q8N9F0	NAT8L_HUMAN	N-acetyltransferase 8-like (GCN5-related, putative)	227	N-acetyltransferase.					integral to membrane|microsome|mitochondrial membrane|rough endoplasmic reticulum membrane	aspartate N-acetyltransferase activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(23;0.0315)			ATCGCCAAGGCGCTGGGCCGG	0.662													T	2065625	C	T	2065625	3	4	364	1	0	0	0	0	1	0	0	0	10257	768	27	1	690	1	NAT8L	4	2065625	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133147	2065625	189088651	3648	27150											
MXD4	10608	broad.mit.edu	37	chr4	2252325	2252325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcccgaagccactgtcGccgccggtgccactctgcag	5	6	14	16	4	1	0	0	0	1	0	2	1	1	0	5	3	3	1	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2252325G>A	ENST00000337190.2	-	6	889	c.576C>T	c.(574-576)ggC>ggT	p.G192G		NM_006454.2	NP_006445.1	Q14582	MAD4_HUMAN	MAX dimerization protein 4	192					negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|transcription corepressor activity			breast(1)|endometrium(1)|kidney(1)|lung(3)	6						AGCCACTGTCGCCGCCGGTGC	0.701													A	2252325	G	A	2252325	2	1	364	1	0	0	0	0	0	0	0	1	10077	1074	38	1		1	MXD4	4	2252325	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186700	2252325	188901951	3649	27151											
FAM193A	8603	broad.mit.edu	37	chr4	2661593	2661593	+	Frame_Shift_Del	DEL	C	C	-																															ctcacgtgtggtatcatggaCccccccgtcactgatgacat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2661593delC	ENST00000324666.5	+	8	1035	c.684delC	c.(682-684)gacfs	p.D228fs	FAM193A_ENST00000502458.1_Frame_Shift_Del_p.D252fs|FAM193A_ENST00000545951.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000505311.1_Frame_Shift_Del_p.D228fs|FAM193A_ENST00000382839.3_Frame_Shift_Del_p.D228fs	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	228										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						GTATCATGGACCCCCCCGTCA	0.522													-	2661593	C	-	2661593	7	5	364	1	0	1	0	1	0	0	0	0	5571	506	18	0	706	0	FAM193A	4	2661593	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	409268	2661593	188492683	3650	27152											
FAM193A	8603	broad.mit.edu	37	chr4	2692619	2692619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcatcagccacgtccTctgtgtcctgcacagctacc	7	9	7	18	2	3	0	2	0	1	0	5	0	5	0	5	0	4	2	5	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2692619T>G	ENST00000324666.5	+	13	2203	c.1852T>G	c.(1852-1854)Tct>Gct	p.S618A	FAM193A_ENST00000382839.3_Missense_Mutation_p.S618A|FAM193A_ENST00000502458.1_Missense_Mutation_p.S640A|FAM193A_ENST00000505311.1_Missense_Mutation_p.S618A|FAM193A_ENST00000545951.1_Missense_Mutation_p.S618A	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	618										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						AGCCACGTCCTCTGTGTCCTG	0.458													G	2692619	T	G	2692619	3	3	364	1	0	0	0	0	1	0	0	0	5571	1551	54	5	1894	5	FAM193A	4	2692619	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31026	2692619	188461657	3651	27153											
TNIP2	79155	broad.mit.edu	37	chr4	2749465	2749465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgctgacacatgtgggCggtggcggtcagcgtcctcc	6	8	15	12	3	1	2	1	1	0	1	3	2	3	2	2	4	2	1	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:2749465C>T	ENST00000510267.1	-	2	590	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	TNIP2_ENST00000315423.7_Missense_Mutation_p.A162T|TNIP2_ENST00000503235.1_Missense_Mutation_p.A162T	NM_001161527.1	NP_001154999.1	Q8NFZ5	TNIP2_HUMAN	TNFAIP3 interacting protein 2	162						cytosol	protein binding			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(6)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACATGTGGGCGGTGGCGGTC	0.627													T	2749465	C	T	2749465	3	4	364	1	0	0	0	0	1	0	0	0	16415	768	27	1	825	1	TNIP2	4	2749465	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56846	2749465	188404811	3652	27154											
GRK4	2868	broad.mit.edu	37	chr4	3015421	3015421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttaaactaggtttgcGcctgtcaagtgcgagccaca	9	11	11	10	2	1	0	1	0	0	0	1	1	1	0	2	1	4	3	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3015421G>A	ENST00000398052.4	+	8	950	c.607G>A	c.(607-609)Gcc>Acc	p.A203T	GRK4_ENST00000398051.4_Missense_Mutation_p.A171T|GRK4_ENST00000504933.1_Missense_Mutation_p.A203T|GRK4_ENST00000345167.6_Missense_Mutation_p.A171T	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	203	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CTAGGTTTGCGCCTGTCAAGT	0.418													A	3015421	G	A	3015421	3	1	364	1	0	0	0	0	1	0	0	0	6846	1087	38	1	637	1	GRK4	4	3015421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	265956	3015421	188138855	3653	27155											
GRK4	2868	broad.mit.edu	37	chr4	3029647	3029647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacacacaggacacatcCggatttcagacctcggtttg	11	10	9	11	2	1	2	1	1	0	1	3	4	2	4	2	3	1	1	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3029647C>T	ENST00000398052.4	+	11	1322	c.979C>T	c.(979-981)Cgg>Tgg	p.R327W	GRK4_ENST00000398051.4_Missense_Mutation_p.R295W|GRK4_ENST00000504933.1_Missense_Mutation_p.R327W|GRK4_ENST00000345167.6_Missense_Mutation_p.R295W|GRK4_ENST00000509545.1_3'UTR	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	327	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGGACACATCCGGATTTCAGA	0.483													T	3029647	C	T	3029647	3	4	364	1	0	0	0	0	1	0	0	0	6846	643	23	1	1021	1	GRK4	4	3029647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14226	3029647	188124629	3654	27156											
GRK4	2868	broad.mit.edu	37	chr4	3037201	3037201	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccgtgttcaaggacatcaActtcaggaggctggaggcaa	11	7	12	11	1	3	0	3	0	0	0	3	3	3	3	2	5	1	3	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3037201A>C	ENST00000398052.4	+	13	1701	c.1358A>C	c.(1357-1359)aAc>aCc	p.N453T	GRK4_ENST00000398051.4_Missense_Mutation_p.N421T|GRK4_ENST00000504933.1_Missense_Mutation_p.N453T|GRK4_ENST00000345167.6_Missense_Mutation_p.N421T|GRK4_ENST00000509545.1_Intron	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	453	AGC-kinase C-terminal.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAGGACATCAACTTCAGGAGG	0.592													C	3037201	A	C	3037201	3	2	364	1	0	0	0	0	1	0	0	0	6846	43	2	5	1408	5	GRK4	4	3037201	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7554	3037201	188117075	3655	27157											
HTT	3064	broad.mit.edu	37	chr4	3174046	3174046	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcacttgtctttctacaGtgtgttgaagagatcctagg	8	15	10	8	0	3	2	1	1	3	1	5	3	4	2	1	1	1	1	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3174046G>T	ENST00000355072.5	+	30	4009		c.e30-1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		TCTTTCTACAGTGTGTTGAAG	0.383													T	3174046	G	T	3174046	5	4	364	1	0	0	0	0	0	0	1	0	7515	1043	36	4	3982	4	HTT	4	3174046	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136845	3174046	187980230	3656	27158											
HTT	3064	broad.mit.edu	37	chr4	3188447	3188447	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgtcactccaaacacaatgGtgagtctctcgcctggctca	9	10	8	14	2	3	1	2	1	1	0	7	1	4	1	2	2	1	1	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3188447G>A	ENST00000355072.5	+	38	5134		c.e38+1			NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin						establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		AAACACAATGGTGAGTCTCTC	0.498													A	3188447	G	A	3188447	5	1	364	1	0	0	0	0	0	0	1	0	7515	1275	44	2	5140	2	HTT	4	3188447	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14401	3188447	187965829	3657	27159											
HTT	3064	broad.mit.edu	37	chr4	3237092	3237092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgagaactatcctctggaCgtagggccggaattttcagc	10	11	11	9	2	2	1	1	1	1	1	3	4	3	3	2	3	2	1	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3237092C>T	ENST00000355072.5	+	62	8683	c.8538C>T	c.(8536-8538)gaC>gaT	p.D2846D	HTT_ENST00000513806.1_3'UTR	NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2846					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		ATCCTCTGGACGTAGGGCCGG	0.532													T	3237092	C	T	3237092	2	4	364	1	0	0	0	0	0	0	0	1	7515	535	19	1		1	HTT	4	3237092	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48645	3237092	187917184	3658	27160											
RGS12	6002	broad.mit.edu	37	chr4	3344777	3344777	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgctcccttgatgatctTgaggtaatttaattttcatt	9	18	6	8	1	2	3	1	3	1	0	4	3	3	3	1	1	0	2	1	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3344777T>C	ENST00000336727.3	+	3	2899	c.1995T>C	c.(1993-1995)ctT>ctC	p.L665L	RGS12_ENST00000382788.3_Silent_p.L665L|RGS12_ENST00000543385.1_Silent_p.L665L|RGS12_ENST00000306648.7_Silent_p.L63L|RGS12_ENST00000344733.5_Silent_p.L665L	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	665						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TTGATGATCTTGAGGTAATTT	0.443													C	3344777	T	C	3344777	2	2	364	1	0	0	0	0	0	0	0	1	13384	1799	63	3		3	RGS12	4	3344777	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107685	3344777	187809499	3659	27161											
RGS12	6002	broad.mit.edu	37	chr4	3418809	3418809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccactccagtgtgtccaCgccaaaaaaggtgacctccc	12	6	8	15	1	0	2	0	1	0	1	3	2	3	2	6	1	0	0	6	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3418809C>T	ENST00000336727.3	+	8	3501	c.2597C>T	c.(2596-2598)aCg>aTg	p.T866M	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.T264M|RGS12_ENST00000344733.5_Missense_Mutation_p.T866M|RGS12_ENST00000543385.1_3'UTR|RGS12_ENST00000382788.3_Missense_Mutation_p.T866M|RGS12_ENST00000338806.4_Missense_Mutation_p.T218M|RGS12_ENST00000538395.1_Missense_Mutation_p.T208M	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	866						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AGTGTGTCCACGCCAAAAAAG	0.637													T	3418809	C	T	3418809	3	4	364	1	0	0	0	0	1	0	0	0	13384	536	19	1	2681	1	RGS12	4	3418809	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74032	3418809	187735467	3660	27162											
RGS12	6002	broad.mit.edu	37	chr4	3419179	3419179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggggatgaggacagcgagaAgaagcggaaaggcgcgtttt	12	5	19	5	4	0	3	0	1	0	2	0	7	0	6	0	5	2	1	0	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3419179A>G	ENST00000336727.3	+	9	3576	c.2672A>G	c.(2671-2673)aAg>aGg	p.K891R	RGS12_ENST00000508158.1_3'UTR|RGS12_ENST00000306648.7_Missense_Mutation_p.K289R|RGS12_ENST00000344733.5_Missense_Mutation_p.K891R|RGS12_ENST00000382788.3_Missense_Mutation_p.K891R|RGS12_ENST00000338806.4_Missense_Mutation_p.K243R|RGS12_ENST00000538395.1_Missense_Mutation_p.K233R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	891						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACAGCGAGAAGAAGCGGAAA	0.537													G	3419179	A	G	3419179	3	3	364	1	0	0	0	0	1	0	0	0	13384	72	3	3	2760	3	RGS12	4	3419179	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	370	3419179	187735097	3661	27163											
RGS12	6002	broad.mit.edu	37	chr4	3432328	3432328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaacggccgggagagcGcctcccagcctggcgagcag	8	2	16	15	4	0	1	0	0	0	1	1	3	1	1	4	4	4	2	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3432328G>A	ENST00000336727.3	+	17	4664	c.3760G>A	c.(3760-3762)Gcc>Acc	p.A1254T	RGS12_ENST00000344733.5_Missense_Mutation_p.A1254T|RGS12_ENST00000382788.3_Missense_Mutation_p.A1254T|RGS12_ENST00000338806.4_Missense_Mutation_p.A606T|RGS12_ENST00000538395.1_3'UTR	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	1254						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCGGGAGAGCGCCTCCCAGCC	0.677													A	3432328	G	A	3432328	3	1	364	1	0	0	0	0	1	0	0	0	13384	1087	38	1	3880	1	RGS12	4	3432328	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13149	3432328	187721948	3662	27164											
HGFAC	3083	broad.mit.edu	37	chr4	3443842	3443842	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttccagccccagcctggCggggtgagcactgaccttgt	5	8	15	13	1	0	2	0	2	0	0	1	2	1	2	5	4	3	2	5	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:3443842C>T	ENST00000382774.3	+	1	229	c.114C>T	c.(112-114)ggC>ggT	p.G38G	HGFAC_ENST00000511533.1_Silent_p.G38G	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	38					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CCCAGCCTGGCGGGGTGAGCA	0.711													T	3443842	C	T	3443842	2	4	364	1	0	0	0	0	0	0	0	1	7141	755	27	1		1	HGFAC	4	3443842	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11514	3443842	187710434	3663	27165											
ZBTB49	166793	broad.mit.edu	37	chr4	4303755	4303755	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagccagaagaatgatgtTtttcacttggatgttaaaaa	15	13	8	5	0	2	3	2	1	0	2	2	4	2	4	1	1	1	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4303755T>C	ENST00000337872.4	+	3	313	c.192T>C	c.(190-192)gtT>gtC	p.V64V	ZBTB49_ENST00000355834.3_Silent_p.V64V|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	64	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						AGAATGATGTTTTTCACTTGG	0.363													C	4303755	T	C	4303755	2	2	364	1	0	0	0	0	0	0	0	1	17651	1828	64	3		3	ZBTB49	4	4303755	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	859913	4303755	186850521	3664	27166											
ZBTB49	166793	broad.mit.edu	37	chr4	4317620	4317620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgagtgtggaaagtCttttaatatgcaaaggaagt	13	13	12	3	0	1	2	0	2	1	0	1	4	1	4	0	2	1	1	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4317620C>A	ENST00000337872.4	+	7	1665	c.1544C>A	c.(1543-1545)tCt>tAt	p.S515Y	ZBTB49_ENST00000355834.3_Intron|ZBTB49_ENST00000538529.1_5'UTR	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						TGTGGAAAGTCTTTTAATATG	0.463													A	4317620	C	A	4317620	3	1	364	1	0	0	0	0	1	0	0	0	17651	913	32	4	1566	4	ZBTB49	4	4317620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13865	4317620	186836656	3665	27167											
MSX1	4487	broad.mit.edu	37	chr4	4864565	4864565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtccatcgccgagcgcGcggagttctccagctcgctc	5	8	11	17	6	1	0	0	0	1	0	6	2	2	1	4	1	2	3	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:4864565G>A	ENST00000382723.4	+	2	841	c.607G>A	c.(607-609)Gcg>Acg	p.A203T	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	197					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		CGCCGAGCGCGCGGAGTTCTC	0.627													A	4864565	G	A	4864565	3	1	364	1	0	0	0	0	1	0	0	0	9971	1087	38	1	613	1	MSX1	4	4864565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	546945	4864565	186289711	3666	27168											
STK32B	55351	broad.mit.edu	37	chr4	5469740	5469740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctttgacagaatggacAcctgcagcactgtttggaga	10	11	11	9	0	1	3	0	1	1	2	1	5	1	4	1	2	3	4	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5469740A>G	ENST00000282908.5	+	11	1471	c.1049A>G	c.(1048-1050)cAc>cGc	p.H350R	STK32B_ENST00000510398.1_Missense_Mutation_p.H303R|STK32B_ENST00000512636.1_Missense_Mutation_p.H273R|STK32B_ENST00000508728.1_3'UTR	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	350							ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						CAGAATGGACACCTGCAGCAC	0.517													G	5469740	A	G	5469740	3	3	364	1	0	0	0	0	1	0	0	0	15394	159	6	3	1091	3	STK32B	4	5469740	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	605175	5469740	185684536	3667	27169											
EVC	2121	broad.mit.edu	37	chr4	5721083	5721083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagaagtgcagatgtcgaagGacaaggaagctgttgatgta	14	8	15	4	1	0	3	0	1	0	2	1	7	0	5	0	2	2	4	0	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5721083G>A	ENST00000382674.2	+	2	467	c.283G>A	c.(283-285)Gac>Aac	p.D95N	EVC_ENST00000264956.6_Missense_Mutation_p.D95N|EVC_ENST00000509451.1_Missense_Mutation_p.D95N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	95					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GATGTCGAAGGACAAGGAAGC	0.512													A	5721083	G	A	5721083	3	1	364	1	0	0	0	0	1	0	0	0	5326	1174	41	2	289	2	EVC	4	5721083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251343	5721083	185433193	3668	27170											
EVC	2121	broad.mit.edu	37	chr4	5733317	5733317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtccactcggccaccagcGatgacaggtttctcagccgc	7	7	11	16	4	1	1	1	1	1	0	4	2	2	1	4	2	2	1	4	2	0	1	rs41269549	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5733317G>A	ENST00000382674.2	+	4	734	c.550G>A	c.(550-552)Gat>Aat	p.D184N	EVC_ENST00000264956.6_Missense_Mutation_p.D184N|EVC_ENST00000509451.1_Missense_Mutation_p.D184N			P57679	EVC_HUMAN	Ellis van Creveld syndrome	184					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				GGCCACCAGCGATGACAGGTT	0.632													A	5733317	G	A	5733317	3	1	364	1	0	0	0	0	1	0	0	0	5326	1058	37	1	564	1	EVC	4	5733317	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12234	5733317	185420959	3669	27171											
EVC	2121	broad.mit.edu	37	chr4	5811321	5811321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaagcaaactgttgcctgCtaagcgtgggctgctaggtg	9	10	14	8	1	0	1	0	1	0	0	0	1	0	1	1	2	6	5	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5811321C>T	ENST00000382674.2	+	19	2949	c.2765C>T	c.(2764-2766)gCt>gTt	p.A922V	EVC_ENST00000264956.6_Missense_Mutation_p.A922V			P57679	EVC_HUMAN	Ellis van Creveld syndrome	922					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				CTGTTGCCTGCTAAGCGTGGG	0.542													T	5811321	C	T	5811321	3	4	364	1	0	0	0	0	1	0	0	0	5326	797	28	2	2839	2	EVC	4	5811321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78004	5811321	185342955	3670	27172											
C4orf50	389197	broad.mit.edu	37	chr4	5977631	5977631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatgaacatattaccttcaGgggagtcactgccaactttg	11	13	8	9	0	2	1	2	1	0	0	2	2	2	2	2	2	4	0	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:5977631G>T	ENST00000531445.1	-	3	1688	c.1642C>A	c.(1642-1644)Ctg>Atg	p.L548M	C4orf50_ENST00000324058.5_Missense_Mutation_p.L74M			Q6ZRC1	CD050_HUMAN	chromosome 4 open reading frame 50	74										breast(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(2)|skin(3)|urinary_tract(1)	15						ATTACCTTCAGGGGAGTCACT	0.363													T	5977631	G	T	5977631	3	4	364	1	0	0	0	0	1	0	0	0	2298	991	35	4	630	4	C4orf50	4	5977631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	166310	5977631	185176645	3671	27173											
JAKMIP1	152789	broad.mit.edu	37	chr4	6050601	6050601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccttttcacacagggcaaGcacagttccagcttggatta	11	11	8	11	0	1	0	1	0	0	0	2	1	2	1	2	2	3	4	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6050601G>A	ENST00000409021.3	-	16	2460	c.2011C>T	c.(2011-2013)Ctt>Ttt	p.L671F	JAKMIP1_ENST00000409371.3_Missense_Mutation_p.L486F	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	442					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACAGGGCAAGCACAGTTCCA	0.463													A	6050601	G	A	6050601	3	1	364	1	0	0	0	0	1	0	0	0	7998	971	34	2	508	2	JAKMIP1	4	6050601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72970	6050601	185103675	3672	27174											
JAKMIP1	152789	broad.mit.edu	37	chr4	6066610	6066610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggtttgcttacatcGtccaagtcttcttcgggcgt	5	15	10	11	3	3	0	0	0	3	0	6	0	4	0	1	2	3	3	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066610G>A	ENST00000409021.3	-	9	1877	c.1428C>T	c.(1426-1428)gaC>gaT	p.D476D	JAKMIP1_ENST00000410077.2_Silent_p.D311D|JAKMIP1_ENST00000409831.1_Silent_p.D476D|JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000282924.5_Silent_p.D476D|JAKMIP1_ENST00000409371.3_Silent_p.D291D	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	476	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGCTTACATCGTCCAAGTCTT	0.547													A	6066610	G	A	6066610	2	1	364	1	0	0	0	0	0	0	0	1	7998	1136	40	1		1	JAKMIP1	4	6066610	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16009	6066610	185087666	3673	27175											
JAKMIP1	152789	broad.mit.edu	37	chr4	6066711	6066712	+	Frame_Shift_Ins	INS	-	-	A																															acagactcctcatcaaatccINSaaaaaatgtctccacaacat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6066711_6066712insA	ENST00000409021.3	-	9	1775_1776	c.1326_1327insT	c.(1324-1329)tttggafs	p.G443fs	JAKMIP1_ENST00000457227.2_5'UTR|JAKMIP1_ENST00000409831.1_Frame_Shift_Ins_p.G443fs|JAKMIP1_ENST00000410077.2_Frame_Shift_Ins_p.G278fs|JAKMIP1_ENST00000409371.3_Frame_Shift_Ins_p.G258fs|JAKMIP1_ENST00000282924.5_Frame_Shift_Ins_p.G443fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	443	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCATCAAATCCAAAAAATGTCT	0.49													A	6066712	-	A	6066711	7	5	364	1	0	1	1	0	0	0	0	0	7998	603	21	0	1295	0	JAKMIP1	4	6066711	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	101	6066711	185087565	3674	27176											
WFS1	7466	broad.mit.edu	37	chr4	6303631	6303631	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtcacgtggaccggccgCttcaagtacgtccgcgtgac	7	7	14	13	6	2	1	2	1	0	0	3	2	3	2	3	3	1	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6303631C>A	ENST00000226760.1	+	8	2279	c.2109C>A	c.(2107-2109)cgC>cgA	p.R703R	WFS1_ENST00000503569.1_Silent_p.R703R	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	703					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		GGACCGGCCGCTTCAAGTACG	0.652													A	6303631	C	A	6303631	2	1	364	1	0	0	0	0	0	0	0	1	17462	784	28	4		4	WFS1	4	6303631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236920	6303631	184850645	3675	27177											
WFS1	7466	broad.mit.edu	37	chr4	6304141	6304141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcagcaccgtgcatggCgccgtgaagttcgccttcga	6	8	14	13	6	0	1	0	1	0	0	2	2	0	1	3	2	2	4	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304141C>T	ENST00000226760.1	+	8	2789	c.2619C>T	c.(2617-2619)ggC>ggT	p.G873G	WFS1_ENST00000503569.1_Silent_p.G873G	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	873					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		CCGTGCATGGCGCCGTGAAGT	0.617													T	6304141	C	T	6304141	2	4	364	1	0	0	0	0	0	0	0	1	17462	755	27	1		1	WFS1	4	6304141	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	510	6304141	184850135	3676	27178											
WFS1	7466	broad.mit.edu	37	chr4	6304188	6304188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcccattcctgtcggCggcctgaggatggtccgcca	4	12	11	14	3	1	1	0	1	1	0	5	2	4	2	5	4	0	0	5	4	0	3	rs147934586		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6304188C>T	ENST00000226760.1	+	8	2836	c.2666C>T	c.(2665-2667)gCg>gTg	p.A889V	WFS1_ENST00000503569.1_Missense_Mutation_p.A889V	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	889					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		TTCCTGTCGGCGGCCTGAGGA	0.637													T	6304188	C	T	6304188	3	4	364	1	0	0	0	0	1	0	0	0	17462	768	27	1	2692	1	WFS1	4	6304188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	6304188	184850088	3677	27179											
PPP2R2C	5522	broad.mit.edu	37	chr4	6473900	6473900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgttaccttcagtcacataGctgtggtcccgcaggaagct	9	10	10	12	2	2	0	2	0	0	0	3	1	3	1	2	2	3	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473900G>A	ENST00000382599.4	-	1	273	c.57C>T	c.(55-57)agC>agT	p.S19S	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	19					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CAGTCACATAGCTGTGGTCCC	0.647													A	6473900	G	A	6473900	2	1	364	1	0	0	0	0	0	0	0	1	12468	962	34	2		2	PPP2R2C	4	6473900	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169712	6473900	184680376	3678	27180											
PPP2R2C	5522	broad.mit.edu	37	chr4	6473947	6473947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattttccgcgtgtccgtgtCctcgcccattgaaggccgtg	5	12	11	13	5	0	1	0	1	0	0	4	1	3	1	5	1	0	0	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6473947C>T	ENST00000382599.4	-	1	226	c.10G>A	c.(10-12)Gac>Aac	p.D4N	PPP2R2C_ENST00000507294.1_Intron|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Intron			Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	4					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						GTGTCCGTGTCCTCGCCCATT	0.672													T	6473947	C	T	6473947	3	4	364	1	0	0	0	0	1	0	0	0	12468	855	30	2	1443	2	PPP2R2C	4	6473947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	6473947	184680329	3679	27181											
MAN2B2	23324	broad.mit.edu	37	chr4	6588806	6588806	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttggcgcctctgccacgAcgcccaccctatttgcgctg	4	10	10	17	5	1	0	0	0	1	0	1	1	1	0	4	1	2	2	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588806A>T	ENST00000285599.3	+	4	511	c.475A>T	c.(475-477)Acg>Tcg	p.T159S	MAN2B2_ENST00000504248.1_Missense_Mutation_p.T159S	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	159					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTCTGCCACGACGCCCACCCT	0.602													T	6588806	A	T	6588806	3	4	364	1	0	0	0	0	1	0	0	0	9292	275	10	5	489	5	MAN2B2	4	6588806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	114859	6588806	184565470	3680	27182											
MAN2B2	23324	broad.mit.edu	37	chr4	6588879	6588879	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgactacgacctgaaggcagCcatgcaggaggcccgggtga	10	4	15	12	3	0	2	0	2	0	0	0	5	0	3	3	4	3	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6588879C>A	ENST00000285599.3	+	4	584	c.548C>A	c.(547-549)gCc>gAc	p.A183D	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A183D	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	183					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CTGAAGGCAGCCATGCAGGAG	0.652													A	6588879	C	A	6588879	3	1	364	1	0	0	0	0	1	0	0	0	9292	739	26	4	562	4	MAN2B2	4	6588879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73	6588879	184565397	3681	27183											
MAN2B2	23324	broad.mit.edu	37	chr4	6595014	6595014	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaacctctatgccgaggcCctggtggccaacgtgaagca	10	7	11	13	2	2	1	1	1	1	0	2	2	2	1	4	3	4	1	4	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6595014C>A	ENST00000285599.3	+	6	831	c.795C>A	c.(793-795)gcC>gcA	p.A265A	MAN2B2_ENST00000504248.1_Intron	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	265					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						ATGCCGAGGCCCTGGTGGCCA	0.632													A	6595014	C	A	6595014	2	1	364	1	0	0	0	0	0	0	0	1	9292	610	22	4		4	MAN2B2	4	6595014	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6135	6595014	184559262	3682	27184											
MAN2B2	23324	broad.mit.edu	37	chr4	6596380	6596380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagtatgccacgctgggCgactacttccgtgccctgca	6	9	12	14	3	0	0	0	0	0	0	1	1	1	0	3	1	5	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6596380C>T	ENST00000285599.3	+	7	1014	c.978C>T	c.(976-978)ggC>ggT	p.G326G	MAN2B2_ENST00000504248.1_Silent_p.G275G	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	326					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CCACGCTGGGCGACTACTTCC	0.617													T	6596380	C	T	6596380	2	4	364	1	0	0	0	0	0	0	0	1	9292	755	27	1		1	MAN2B2	4	6596380	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366	6596380	184557896	3683	27185											
MAN2B2	23324	broad.mit.edu	37	chr4	6610849	6610849	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagacagagtaaccgaacGgtgcgcgtgacccaggaatt	12	6	13	10	4	0	3	0	1	0	2	0	5	0	4	2	2	4	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6610849G>A	ENST00000285599.3	+	12	1866	c.1830G>A	c.(1828-1830)acG>acA	p.T610T	MAN2B2_ENST00000504960.1_3'UTR|MAN2B2_ENST00000504248.1_Silent_p.T559T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	610					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.T610T(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GTAACCGAACGGTGCGCGTGA	0.567													A	6610849	G	A	6610849	2	1	364	1	0	0	0	0	0	0	0	1	9292	1103	39	1		1	MAN2B2	4	6610849	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14469	6610849	184543427	3684	27186											
KIAA0232	9778	broad.mit.edu	37	chr4	6864544	6864544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaaactacacaagtatgtaAtgaaagtccacatggagatg	17	9	9	6	0	0	3	0	2	0	1	1	4	1	3	1	1	2	2	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864544A>G	ENST00000307659.5	+	7	2890	c.2435A>G	c.(2434-2436)aAt>aGt	p.N812S	KIAA0232_ENST00000425103.1_Missense_Mutation_p.N812S	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	812							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						CAAGTATGTAATGAAAGTCCA	0.343													G	6864544	A	G	6864544	3	3	364	1	0	0	0	0	1	0	0	0	8221	101	4	3	2453	3	KIAA0232	4	6864544	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	253695	6864544	184289732	3685	27187											
KIAA0232	9778	broad.mit.edu	37	chr4	6864926	6864926	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttatggagaactcaaaacCttcaatagtgatggggagtg	13	11	12	5	0	2	2	2	1	0	1	2	4	2	3	1	3	2	1	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:6864926C>A	ENST00000307659.5	+	7	3272	c.2817C>A	c.(2815-2817)acC>acA	p.T939T	KIAA0232_ENST00000425103.1_Silent_p.T939T	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	939							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AACTCAAAACCTTCAATAGTG	0.448													A	6864926	C	A	6864926	2	1	364	1	0	0	0	0	0	0	0	1	8221	668	24	4		4	KIAA0232	4	6864926	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382	6864926	184289350	3686	27188											
TBC1D14	57533	broad.mit.edu	37	chr4	7002978	7002978	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagttaaatatcacccacGgtgagtggcctgcatgatcc	11	9	10	11	2	1	2	1	2	0	0	2	3	2	2	3	2	1	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7002978G>A	ENST00000409757.4	+	7	1394	c.1270G>A	c.(1270-1272)Gag>Aag	p.E424K	TBC1D14_ENST00000410031.1_Splice_Site_p.E196K|TBC1D14_ENST00000446947.2_Splice_Site_p.E37K|TBC1D14_ENST00000451522.2_Splice_Site_p.E144K|TBC1D14_ENST00000448507.1_Splice_Site_p.E424K	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	424	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TATCACCCACGGTGAGTGGCC	0.517													A	7002978	G	A	7002978	5	1	364	1	0	0	0	0	0	0	1	0	15700	1130	39	1	1299	1	TBC1D14	4	7002978	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138052	7002978	184151298	3687	27189											
TBC1D14	57533	broad.mit.edu	37	chr4	7026800	7026800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgggacgtgttctgtcgCgatggggaagagttcctgtt	6	13	15	7	3	2	1	0	0	2	1	4	4	3	3	1	3	0	3	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7026800C>T	ENST00000409757.4	+	13	1951	c.1827C>T	c.(1825-1827)cgC>cgT	p.R609R	TBC1D14_ENST00000410031.1_Silent_p.R381R|TBC1D14_ENST00000446947.2_Silent_p.R256R|TBC1D14_ENST00000451522.2_Silent_p.R329R|TBC1D14_ENST00000448507.1_Silent_p.R609R	NM_020773.2	NP_065824.2	Q9P2M4	TBC14_HUMAN	TBC1 domain family, member 14	609	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|endometrium(5)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	22						TGTTCTGTCGCGATGGGGAAG	0.507													T	7026800	C	T	7026800	2	4	364	1	0	0	0	0	0	0	0	1	15700	755	27	1		1	TBC1D14	4	7026800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23822	7026800	184127476	3688	27190											
TADA2B	93624	broad.mit.edu	37	chr4	7056173	7056173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaagagagacagcggCggaagaacatcgcccgtgac	14	3	14	10	4	0	5	0	2	0	3	1	7	0	6	1	2	3	1	1	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7056173C>T	ENST00000310074.7	+	2	844	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TADA2B_ENST00000515646.1_Missense_Mutation_p.R127W|TADA2B_ENST00000512388.1_Missense_Mutation_p.R144W	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent		DNA binding|zinc ion binding			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						GAGACAGCGGCGGAAGAACAT	0.572													T	7056173	C	T	7056173	3	4	364	1	0	0	0	0	1	0	0	0	15608	759	27	1	661	1	TADA2B	4	7056173	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29373	7056173	184098103	3689	27191											
SORCS2	57537	broad.mit.edu	37	chr4	7714488	7714488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacatcagcttccgctccGattgggagctggtcaaggtg	7	9	13	12	2	2	0	2	0	0	0	4	2	4	1	3	3	2	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7714488G>A	ENST00000507866.2	+	15	2006	c.1897G>A	c.(1897-1899)Gat>Aat	p.D633N	SORCS2_ENST00000329016.9_Missense_Mutation_p.D461N	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	633						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						CTTCCGCTCCGATTGGGAGCT	0.592													A	7714488	G	A	7714488	3	1	364	1	0	0	0	0	1	0	0	0	15025	1058	37	1	1955	1	SORCS2	4	7714488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	658315	7714488	183439788	3690	27192											
SORCS2	57537	broad.mit.edu	37	chr4	7725423	7725423	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatggtgtttctctgcaGggtgatgtcctgactaccaa	8	12	10	11	0	1	2	0	2	1	0	3	2	2	2	3	2	2	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7725423G>T	ENST00000507866.2	+	19	2533		c.e19-1		SORCS2_ENST00000329016.9_Splice_Site	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2							integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TTTCTCTGCAGGGTGATGTCC	0.557													T	7725423	G	T	7725423	5	4	364	1	0	0	0	0	0	0	1	0	15025	1014	35	4	2498	4	SORCS2	4	7725423	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10935	7725423	183428853	3691	27193											
AFAP1	60312	broad.mit.edu	37	chr4	7844934	7844934	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccgcttcttccgcagcaGgaaggcgcagattttggcgt	8	9	13	11	4	1	1	0	0	1	1	2	3	2	2	2	3	2	4	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7844934G>T	ENST00000420658.1	-	5	750	c.478C>A	c.(478-480)Ctg>Atg	p.L160M	AFAP1_ENST00000382543.3_Missense_Mutation_p.L160M|AFAP1_ENST00000360265.4_Missense_Mutation_p.L160M|AFAP1_ENST00000358461.2_Missense_Mutation_p.L160M	NM_001134647.1	NP_001128119.1	Q8N556	AFAP1_HUMAN	actin filament associated protein 1	160	PH 1.					actin cytoskeleton|cytoplasm|focal adhesion	actin binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(4)|stomach(2)	32						TTCCGCAGCAGGAAGGCGCAG	0.552													T	7844934	G	T	7844934	3	4	364	1	0	0	0	0	1	0	0	0	353	991	35	4	2022	4	AFAP1	4	7844934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119511	7844934	183309342	3692	27194											
ABLIM2	84448	broad.mit.edu	37	chr4	7986584	7986584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgcatgccccagctggCatccgggtctgctccacagg	6	7	11	17	2	1	0	0	0	1	0	4	0	3	0	5	3	3	4	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7986584C>T	ENST00000318888.4	-	17	1691	c.820G>A	c.(820-822)Gcc>Acc	p.A274T	ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.A487T|ABLIM2_ENST00000341937.5_Missense_Mutation_p.A539T|ABLIM2_ENST00000514025.1_Missense_Mutation_p.A274T|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.A573T|ABLIM2_ENST00000407564.3_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	539			K -> M (in a pancreatic ductal adenocarcinoma sample; somatic mutation).		axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CCCCAGCTGGCATCCGGGTCT	0.617													T	7986584	C	T	7986584	3	4	364	1	0	0	0	0	1	0	0	0	95	710	25	2	236	2	ABLIM2	4	7986584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141650	7986584	183167692	3693	27195											
ABLIM2	84448	broad.mit.edu	37	chr4	7994606	7994606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacctacccgctggtccaagCcattctttccatgtcctggg	6	12	8	15	1	1	0	0	0	1	0	4	0	4	0	6	2	3	1	6	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:7994606C>T	ENST00000318888.4	-	16	1641	c.770G>A	c.(769-771)gGc>gAc	p.G257D	ABLIM2_ENST00000296372.8_Intron|ABLIM2_ENST00000361581.5_Intron|ABLIM2_ENST00000545242.1_Intron|ABLIM2_ENST00000546334.1_Intron|ABLIM2_ENST00000505872.1_Missense_Mutation_p.G470D|ABLIM2_ENST00000341937.5_Missense_Mutation_p.G522D|ABLIM2_ENST00000514025.1_Missense_Mutation_p.G257D|ABLIM2_ENST00000361737.5_Intron|ABLIM2_ENST00000447017.2_Missense_Mutation_p.G556D|ABLIM2_ENST00000407564.3_Intron			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	522	LIM zinc-binding 4.				axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTGGTCCAAGCCATTCTTTCC	0.552													T	7994606	C	T	7994606	3	4	364	1	0	0	0	0	1	0	0	0	95	739	26	2	290	2	ABLIM2	4	7994606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8022	7994606	183159670	3694	27196											
SH3TC1	54436	broad.mit.edu	37	chr4	8218777	8218778	+	Frame_Shift_Ins	INS	-	-	T																															caggccctcaggcaggcttcINSgggggcaccccagggagagg																								rs149468044		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8218777_8218778insT	ENST00000539824.1	+	7	868_869	c.494_495insT	c.(493-498)tcggggfs	p.SG165fs	SH3TC1_ENST00000245105.3_Frame_Shift_Ins_p.SG241fs			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	241							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCAGGCTTCGGGGGCACCCC	0.673													T	8218778	-	T	8218777	7	5	364	1	0	1	1	0	0	0	0	0	14355	893	31	0	744	0	SH3TC1	4	8218777	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	224171	8218777	182935499	3695	27197											
SH3TC1	54436	broad.mit.edu	37	chr4	8229811	8229811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttggcccagctgtacaGccaccatggctgccacggcc	7	6	11	17	1	0	0	0	0	0	0	0	0	0	0	5	3	5	4	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8229811G>A	ENST00000539824.1	+	12	2536	c.2162G>A	c.(2161-2163)aGc>aAc	p.S721N	SH3TC1_ENST00000245105.3_Missense_Mutation_p.S797N			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	797							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CAGCTGTACAGCCACCATGGC	0.672													A	8229811	G	A	8229811	3	1	364	1	0	0	0	0	1	0	0	0	14355	971	34	2	2432	2	SH3TC1	4	8229811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11034	8229811	182924465	3696	27198											
SH3TC1	54436	broad.mit.edu	37	chr4	8233806	8233806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagctctccctggcctgCaaggtggccgacaaggtgct	6	8	12	15	1	1	0	0	0	1	0	3	1	2	0	4	4	3	3	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8233806C>T	ENST00000539824.1	+	13	3200	c.2826C>T	c.(2824-2826)tgC>tgT	p.C942C	SH3TC1_ENST00000245105.3_Silent_p.C1018C			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	1018							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCTGGCCTGCAAGGTGGCCG	0.662													T	8233806	C	T	8233806	2	4	364	1	0	0	0	0	0	0	0	1	14355	718	25	2		2	SH3TC1	4	8233806	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3995	8233806	182920470	3697	27199											
ACOX3	8310	broad.mit.edu	37	chr4	8407741	8407741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccaaccatcactccaggCatgggaagaagggtcttcgg	10	7	12	12	2	2	1	1	0	1	1	5	2	3	2	3	4	1	1	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8407741C>T	ENST00000356406.5	-	7	794	c.717G>A	c.(715-717)atG>atA	p.M239I	ACOX3_ENST00000503233.1_Missense_Mutation_p.M239I|ACOX3_ENST00000413009.2_Missense_Mutation_p.M239I	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	239					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCACTCCAGGCATGGGAAGAA	0.488													T	8407741	C	T	8407741	3	4	364	1	0	0	0	0	1	0	0	0	160	710	25	2	1433	2	ACOX3	4	8407741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173935	8407741	182746535	3698	27200											
ACOX3	8310	broad.mit.edu	37	chr4	8418133	8418133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatgccctccccttccGtgaacagcgccagctccttc	6	8	9	18	2	0	1	0	1	0	0	4	2	3	2	6	1	5	2	6	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8418133G>A	ENST00000356406.5	-	2	193	c.116C>T	c.(115-117)aCg>aTg	p.T39M	ACOX3_ENST00000503233.1_Missense_Mutation_p.T39M|ACOX3_ENST00000413009.2_Missense_Mutation_p.T39M	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	39					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						CTCCCCTTCCGTGAACAGCGC	0.587													A	8418133	G	A	8418133	3	1	364	1	0	0	0	0	1	0	0	0	160	1145	40	1	2054	1	ACOX3	4	8418133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10392	8418133	182736143	3699	27201											
CPZ	8532	broad.mit.edu	37	chr4	8607726	8607726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccccagtggagcccgaGgtgaagctcatcggcaacat	9	7	12	13	2	1	1	1	1	0	0	2	3	1	2	3	3	4	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8607726G>T	ENST00000382480.2	+	5	1109	c.309G>T	c.(307-309)gaG>gaT	p.E103D	CPZ_ENST00000360986.4_Missense_Mutation_p.E240D|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.E229D	NM_001014448.2	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	240	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding	p.E240D(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGGAGCCCGAGGTGAAGCTCA	0.587													T	8607726	G	T	8607726	3	4	364	1	0	0	0	0	1	0	0	0	3870	991	35	4	738	4	CPZ	4	8607726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189593	8607726	182546550	3700	27202											
CPZ	8532	broad.mit.edu	37	chr4	8608505	8608505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgagcgggaggcagaacgcGcagaacctggatctgaaccg	12	3	15	11	5	1	3	0	1	1	2	1	6	1	5	2	3	4	2	2	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8608505G>A	ENST00000382480.2	+	6	1337	c.537G>A	c.(535-537)gcG>gcA	p.A179A	CPZ_ENST00000360986.4_Silent_p.A316A|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Silent_p.A305A	NM_001014448.2	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	316					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GGCAGAACGCGCAGAACCTGG	0.662													A	8608505	G	A	8608505	2	1	364	1	0	0	0	0	0	0	0	1	3870	1074	38	1		1	CPZ	4	8608505	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	779	8608505	182545771	3701	27203											
CPZ	8532	broad.mit.edu	37	chr4	8609139	8609139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagatgttttctcccaCgcccgacgagaaggtgagag	11	7	14	9	3	1	4	0	1	1	4	2	8	1	4	2	2	0	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8609139C>T	ENST00000382480.2	+	7	1603	c.803C>T	c.(802-804)aCg>aTg	p.T268M	CPZ_ENST00000360986.4_Missense_Mutation_p.T405M|CPZ_ENST00000429646.2_5'UTR|CPZ_ENST00000315782.6_Missense_Mutation_p.T394M	NM_001014448.2	NP_001014448	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	405					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TTTTCTCCCACGCCCGACGAG	0.632											OREG0016100	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	8609139	C	T	8609139	3	4	364	1	0	0	0	0	1	0	0	0	3870	536	19	1	1240	1	CPZ	4	8609139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	634	8609139	182545137	3702	27204											
CPZ	8532	broad.mit.edu	37	chr4	8616085	8616085	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgtctctgtgccacaGgcatgtccgatttcaactac	7	11	8	15	2	2	0	1	0	1	0	4	1	3	0	3	1	3	2	3	1	2	2	rs139636384		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8616085G>T	ENST00000429646.2	+	7	2980		c.e7-1		CPZ_ENST00000360986.4_Splice_Site|CPZ_ENST00000315782.6_Splice_Site|CPZ_ENST00000382480.2_Splice_Site			Q66K79	CBPZ_HUMAN	carboxypeptidase Z						proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGTGCCACAGGCATGTCCGA	0.627													T	8616085	G	T	8616085	5	4	364	1	0	0	0	0	0	0	1	0	3870	1014	35	4	1397	4	CPZ	4	8616085	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6946	8616085	182538191	3703	27205											
CPZ	8532	broad.mit.edu	37	chr4	8621238	8621238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccacggagcccgaccCgctccgggcgcgcaggcagc	6	1	17	17	6	0	0	0	0	0	0	1	3	1	2	4	5	2	3	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:8621238C>T	ENST00000429646.2	+	9	3470	c.677C>T	c.(676-678)cCg>cTg	p.P226L	CPZ_ENST00000360986.4_Missense_Mutation_p.P618L|CPZ_ENST00000315782.6_Missense_Mutation_p.P607L|CPZ_ENST00000382480.2_Missense_Mutation_p.P481L			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	618					proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						GAGCCCGACCCGCTCCGGGCG	0.677													T	8621238	C	T	8621238	3	4	364	1	0	0	0	0	1	0	0	0	3870	652	23	1	1895	1	CPZ	4	8621238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5153	8621238	182533038	3704	27206											
DRD5	1816	broad.mit.edu	37	chr4	9784208	9784208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggcacagggaccaggcGgcctcttggggcgggctgga	7	5	18	11	2	1	0	0	0	1	0	1	2	1	2	2	8	1	2	2	8	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:9784208G>A	ENST00000304374.2	+	1	951	c.555G>A	c.(553-555)gcG>gcA	p.A185A		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	185					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GGGACCAGGCGGCCTCTTGGG	0.612													A	9784208	G	A	9784208	2	1	364	1	0	0	0	0	0	0	0	1	4799	1103	39	1		1	DRD5	4	9784208	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1162970	9784208	181370068	3705	27207											
WDR1	9948	broad.mit.edu	37	chr4	10079512	10079512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttgccctcatccttcagCgtggtgcccaggatggaata	8	10	11	12	1	2	0	2	0	0	0	3	2	3	2	3	3	4	1	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10079512C>T	ENST00000382452.2	-	13	1716	c.1434G>A	c.(1432-1434)acG>acA	p.T478T	WDR1_ENST00000502702.1_Silent_p.T338T|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000499869.2_Silent_p.T478T|WDR1_ENST00000382451.2_Silent_p.T338T	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	478					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CATCCTTCAGCGTGGTGCCCA	0.642													T	10079512	C	T	10079512	2	4	364	1	0	0	0	0	0	0	0	1	17374	755	27	1		1	WDR1	4	10079512	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	295304	10079512	181074764	3706	27208											
WDR1	9948	broad.mit.edu	37	chr4	10099412	10099412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgcttcccgtggccagccGgtatggccggctctgcttga	4	10	13	14	4	1	1	0	1	1	0	3	1	2	1	4	4	2	4	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10099412G>A	ENST00000382452.2	-	5	763	c.481C>T	c.(481-483)Cgg>Tgg	p.R161W	WDR1_ENST00000502702.1_Intron|WDR1_ENST00000499869.2_Missense_Mutation_p.R161W|WDR1_ENST00000382451.2_Intron	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	161					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GTGGCCAGCCGGTATGGCCGG	0.517													A	10099412	G	A	10099412	3	1	364	1	0	0	0	0	1	0	0	0	17374	1115	39	1	1383	1	WDR1	4	10099412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19900	10099412	181054864	3707	27209											
ZNF518B	85460	broad.mit.edu	37	chr4	10445301	10445301	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttatttctacttatagaAagacttctggaaagcagtct	12	16	7	6	0	3	2	0	0	3	2	3	3	3	3	0	1	2	2	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10445301A>C	ENST00000326756.3	-	3	3090	c.2652T>G	c.(2650-2652)ctT>ctG	p.L884L		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	884					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TACTTATAGAAAGACTTCTGG	0.398													C	10445301	A	C	10445301	2	2	364	1	0	0	0	0	0	0	0	1	18064	1	1	5		5	ZNF518B	4	10445301	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	345889	10445301	180708975	3708	27210											
ZNF518B	85460	broad.mit.edu	37	chr4	10446802	10446802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccttctctttcaccataCgttcagaattacctccatta	11	14	2	14	1	3	1	2	0	1	1	5	1	4	1	4	0	3	1	4	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446802C>T	ENST00000326756.3	-	3	1589	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	384					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTTCACCATACGTTCAGAATT	0.413													T	10446802	C	T	10446802	3	4	364	1	0	0	0	0	1	0	0	0	18064	536	19	1	2077	1	ZNF518B	4	10446802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1501	10446802	180707474	3709	27211											
ZNF518B	85460	broad.mit.edu	37	chr4	10446900	10446900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtgtaccattgacaacCttcacatctatcaactgggc	10	12	7	12	0	3	1	2	1	1	0	3	1	3	1	2	1	4	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10446900C>A	ENST00000326756.3	-	3	1491	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CATTGACAACCTTCACATCTA	0.448													A	10446900	C	A	10446900	3	1	364	1	0	0	0	0	1	0	0	0	18064	680	24	4	2175	4	ZNF518B	4	10446900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98	10446900	180707376	3710	27212											
CLNK	116449	broad.mit.edu	37	chr4	10560053	10560053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatgttttggcttctgacGtccttggaaatgggtttgtc	6	18	11	6	1	1	1	0	1	1	0	3	2	2	2	1	3	0	3	1	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10560053G>A	ENST00000226951.6	-	8	662	c.423C>T	c.(421-423)gaC>gaT	p.D141D	CLNK_ENST00000442825.2_Silent_p.D99D|CLNK_ENST00000507719.1_Silent_p.D99D	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	141					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						GGCTTCTGACGTCCTTGGAAA	0.383													A	10560053	G	A	10560053	2	1	364	1	0	0	0	0	0	0	0	1	3578	1136	40	1		1	CLNK	4	10560053	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113153	10560053	180594223	3711	27213											
CLNK	116449	broad.mit.edu	37	chr4	10566361	10566361	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagaggtcctggtgtctaaCggaaggggagtgtccattgc	9	10	15	7	1	1	1	0	0	1	1	3	3	3	3	2	5	2	0	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:10566361C>T	ENST00000226951.6	-	7	572	c.333G>A	c.(331-333)ccG>ccA	p.P111P	CLNK_ENST00000442825.2_Silent_p.P69P|CLNK_ENST00000507719.1_Silent_p.P69P	NM_052964.2	NP_443196.2	Q7Z7G1	CLNK_HUMAN	cytokine-dependent hematopoietic cell linker	111					immune response|intracellular signal transduction	intracellular	SH3/SH2 adaptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)	17						TGGTGTCTAACGGAAGGGGAG	0.433													T	10566361	C	T	10566361	2	4	364	1	0	0	0	0	0	0	0	1	3578	523	19	1		1	CLNK	4	10566361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6308	10566361	180587915	3712	27214											
FGFBP2	83888	broad.mit.edu	37	chr4	15964500	15964500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaggtttggggtcagcagCgaaagcctggcacatgctgg	9	8	16	8	1	1	0	1	0	0	0	1	1	1	0	1	5	4	5	1	5	2	2	rs111244757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15964500C>T	ENST00000259989.6	-	1	359	c.253G>A	c.(253-255)Gct>Act	p.A85T	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	85						extracellular space	growth factor binding			central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGGTCAGCAGCGAAAGCCTGG	0.622													T	15964500	C	T	15964500	3	4	364	1	0	0	0	0	1	0	0	0	5910	768	27	1	422	1	FGFBP2	4	15964500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5398139	15964500	175189776	3713	27215											
PROM1	8842	broad.mit.edu	37	chr4	15985894	15985894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaaatcttaccaaggggtCgataatgtagctacacagaa	16	9	9	7	1	1	2	0	1	1	1	2	3	1	2	1	2	3	2	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:15985894C>T	ENST00000505450.1	-	22	2950	c.2338G>A	c.(2338-2340)Gac>Aac	p.D780N	PROM1_ENST00000539194.1_Missense_Mutation_p.D789N|PROM1_ENST00000447510.2_Missense_Mutation_p.D789N|PROM1_ENST00000543373.1_Missense_Mutation_p.D780N|PROM1_ENST00000510224.1_Missense_Mutation_p.D789N|PROM1_ENST00000540805.1_Missense_Mutation_p.D789N|PROM1_ENST00000508167.1_Missense_Mutation_p.D780N	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	789					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ACCAAGGGGTCGATAATGTAG	0.393													T	15985894	C	T	15985894	3	4	364	1	0	0	0	0	1	0	0	0	12641	884	31	1	252	1	PROM1	4	15985894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21394	15985894	175168382	3714	27216											
LDB2	9079	broad.mit.edu	37	chr4	16504355	16504355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgttgttccccagcgCgggtgaattgttgaagtcct	5	12	14	10	3	0	2	0	2	0	0	2	2	2	2	3	2	1	4	3	2	2	4	rs138614817		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:16504355C>T	ENST00000304523.5	-	8	1356	c.1033G>A	c.(1033-1035)Gcg>Acg	p.A345T	LDB2_ENST00000441778.2_3'UTR|LDB2_ENST00000515064.1_Missense_Mutation_p.A343T|LDB2_ENST00000502640.1_3'UTR|RP11-446J8.1_ENST00000512370.1_RNA	NM_001290.3	NP_001281.1	O43679	LDB2_HUMAN	LIM domain binding 2	345							LIM domain binding|transcription cofactor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(23)|urinary_tract(1)	33						TTCCCCAGCGCGGGTGAATTG	0.532													T	16504355	C	T	16504355	3	4	364	1	0	0	0	0	1	0	0	0	8755	768	27	1	92	1	LDB2	4	16504355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	518461	16504355	174649921	3715	27217											
QDPR	5860	broad.mit.edu	37	chr4	17492298	17492298	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcactcaactaggaattCtaagggtgtccaggagctga	12	10	10	9	0	3	1	2	1	1	0	4	3	4	3	1	3	3	1	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17492298C>A	ENST00000281243.5	-	6	795	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	QDPR_ENST00000428702.2_Nonsense_Mutation_p.E175*|QDPR_ENST00000508623.1_Intron|QDPR_ENST00000513615.1_3'UTR	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	206					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACTAGGAATTCTAAGGGTGTC	0.507													A	17492298	C	A	17492298	4	1	364	1	0	0	0	0	0	1	0	0	12960	922	32	4	126	4	QDPR	4	17492298	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	987943	17492298	173661978	3716	27218											
CLRN2	645104	broad.mit.edu	37	chr4	17528511	17528511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacctgacggaacgaatcGccaactttcaggagaagctc	13	6	10	12	4	1	2	1	1	0	1	3	6	1	3	2	2	3	1	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17528511G>A	ENST00000511148.2	+	3	607	c.505G>A	c.(505-507)Gcc>Acc	p.A169T		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	169						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						GGAACGAATCGCCAACTTTCA	0.537													A	17528511	G	A	17528511	3	1	364	1	0	0	0	0	1	0	0	0	3589	1087	38	1	515	1	CLRN2	4	17528511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36213	17528511	173625765	3717	27219											
LAP3	51056	broad.mit.edu	37	chr4	17609105	17609105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttagacatagcaggcGtgatgaccaacaaagatgaa	17	7	9	8	1	0	5	0	3	0	2	0	5	0	5	1	1	2	1	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17609105G>A	ENST00000226299.4	+	13	1727	c.1453G>A	c.(1453-1455)Gtg>Atg	p.V485M	LAP3_ENST00000606142.1_Missense_Mutation_p.V454M|AC006160.5_ENST00000511010.1_RNA|LAP3_ENST00000503467.1_3'UTR	NM_015907.2	NP_056991.2	P28838	AMPL_HUMAN	leucine aminopeptidase 3	485					proteolysis	nucleus	aminopeptidase activity|magnesium ion binding|manganese ion binding|metalloexopeptidase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|urinary_tract(1)	20						CATAGCAGGCGTGATGACCAA	0.448													A	17609105	G	A	17609105	3	1	364	1	0	0	0	0	1	0	0	0	8682	1145	40	1	1503	1	LAP3	4	17609105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80594	17609105	173545171	3718	27220											
MED28	80306	broad.mit.edu	37	chr4	17623272	17623273	+	Frame_Shift_Ins	INS	-	-	A																															gacagaatgttttttcttacINSaaaaaagattgcagttatct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17623272_17623273insA	ENST00000237380.7	+	3	313_314	c.289_290insA	c.(289-291)caafs	p.Q97fs		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						TTTTTTCTTACAAAAAAGATTG	0.337													A	17623273	-	A	17623272	7	5	364	1	0	1	1	0	0	0	0	0	9521	479	17	0	299	0	MED28	4	17623272	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	14167	17623272	173531004	3719	27221											
MED28	80306	broad.mit.edu	37	chr4	17625336	17625336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacatcaacgtgcagcacaAaaagcccgccgacatccctc	13	4	8	16	3	1	0	1	0	0	0	3	2	2	1	3	1	4	2	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:17625336A>G	ENST00000237380.7	+	4	476	c.452A>G	c.(451-453)aAa>aGa	p.K151R		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						GTGCAGCACAAAAAGCCCGCC	0.557													G	17625336	A	G	17625336	3	3	364	1	0	0	0	0	1	0	0	0	9521	14	1	3	466	3	MED28	4	17625336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2064	17625336	173528940	3720	27222											
SLIT2	9353	broad.mit.edu	37	chr4	20512133	20512133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagacgtttggaacagaaCacaatcaaagtcatccctcc	14	8	7	12	1	2	2	2	0	0	2	4	3	4	3	2	1	3	2	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20512133C>T	ENST00000504154.1	+	10	1182	c.930C>T	c.(928-930)aaC>aaT	p.N310N	SLIT2_ENST00000503823.1_Silent_p.N310N|SLIT2_ENST00000273739.5_Silent_p.N314N|SLIT2_ENST00000503837.1_Silent_p.N314N	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	310					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TGGAACAGAACACAATCAAAG	0.323													T	20512133	C	T	20512133	2	4	364	1	0	0	0	0	0	0	0	1	14834	477	17	2		2	SLIT2	4	20512133	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2886797	20512133	170642143	3721	27223											
SLIT2	9353	broad.mit.edu	37	chr4	20619166	20619166	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagaggaggatctgtttaAcccatgccaggcgatcaagt	12	9	12	8	1	2	2	1	1	1	1	2	5	2	4	2	3	2	1	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20619166A>G	ENST00000504154.1	+	36	4493	c.4241A>G	c.(4240-4242)aAc>aGc	p.N1414S	SLIT2_ENST00000503823.1_Missense_Mutation_p.N1406S|SLIT2_ENST00000273739.5_Missense_Mutation_p.N1427S|SLIT2_ENST00000503837.1_Missense_Mutation_p.N1410S	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1414					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GATCTGTTTAACCCATGCCAG	0.552													G	20619166	A	G	20619166	3	3	364	1	0	0	0	0	1	0	0	0	14834	43	2	3	4383	3	SLIT2	4	20619166	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	107033	20619166	170535110	3722	27224											
PACRGL	133015	broad.mit.edu	37	chr4	20711343	20711343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaaacacagattacagtggGaatgtcctcctgaaagtctt	14	11	8	8	0	1	2	0	1	1	1	3	3	3	3	2	1	2	0	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20711343G>A	ENST00000360916.5	+	5	704	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	PACRGL_ENST00000295290.8_Missense_Mutation_p.E105K|PACRGL_ENST00000502374.1_Intron|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Intron|PACRGL_ENST00000513459.1_Intron|PACRGL_ENST00000444671.2_Intron|PACRGL_ENST00000507634.1_Missense_Mutation_p.E105K|PACRGL_ENST00000503585.1_Missense_Mutation_p.E105K	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	105							binding			endometrium(2)|lung(7)|prostate(1)	10						ATTACAGTGGGAATGTCCTCC	0.289													A	20711343	G	A	20711343	3	1	364	1	0	0	0	0	1	0	0	0	11447	1175	41	2	327	2	PACRGL	4	20711343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92177	20711343	170442933	3723	27225											
KCNIP4	80333	broad.mit.edu	37	chr4	20733666	20733666	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaactcatctatggtaacaAccccatctttatttttgtcc	10	16	4	11	0	3	1	1	1	2	0	4	1	4	1	3	1	3	1	3	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:20733666A>G	ENST00000382148.3	-	7	929	c.593T>C	c.(592-594)gTt>gCt	p.V198A	KCNIP4_ENST00000447367.2_Missense_Mutation_p.V189A|KCNIP4_ENST00000509207.1_Missense_Mutation_p.V161A|KCNIP4_ENST00000382152.2_Missense_Mutation_p.V223A|KCNIP4_ENST00000382150.4_Missense_Mutation_p.V202A|KCNIP4_ENST00000359001.5_Missense_Mutation_p.V161A|PACRGL_ENST00000507634.1_Intron|KCNIP4_ENST00000382149.4_5'UTR	NM_001035003.1	NP_001030175.1	Q6PIL6	KCIP4_HUMAN	Kv channel interacting protein 4	223						plasma membrane	calcium ion binding|potassium channel activity|protein binding|voltage-gated ion channel activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Breast(46;0.134)				TATGGTAACAACCCCATCTTT	0.338													G	20733666	A	G	20733666	3	3	364	1	0	0	0	0	1	0	0	0	8100	43	2	3	92	3	KCNIP4	4	20733666	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22323	20733666	170420610	3724	27226											
GPR125	166647	broad.mit.edu	37	chr4	22438079	22438079	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacctgattaaacatataaAgaactctagtgacatcattt	16	14	4	7	0	2	3	1	2	1	1	2	3	2	3	1	0	3	0	1	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22438079A>T	ENST00000334304.5	-	9	1540	c.1271T>A	c.(1270-1272)cTt>cAt	p.L424H	GPR125_ENST00000508133.1_Missense_Mutation_p.L198H|GPR125_ENST00000502482.1_Missense_Mutation_p.L424H|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	424					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				AAACATATAAAGAACTCTAGT	0.353													T	22438079	A	T	22438079	3	4	364	1	0	0	0	0	1	0	0	0	6693	72	3	5	2738	5	GPR125	4	22438079	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1704413	22438079	168716197	3725	27227											
GBA3	57733	broad.mit.edu	37	chr4	22729372	22729372	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtggataactcagcggtcGtaatctgtcataatcctctt	9	15	8	9	2	4	0	2	0	2	0	6	1	5	1	1	2	2	1	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729372G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CTCAGCGGTCGTAATCTGTCA	0.398													A	22729372	G	A	22729372	1	1	364	0	1	0	0	0	0	0	0	0	6322	1160	40	1		1	GBA3	4	22729372	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291293	22729372	168424904	3726	27228											
GBA3	57733	broad.mit.edu	37	chr4	22729544	22729544	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttactaacagcaccatcGcccacaacaacacacttaat	15	9	3	14	1	0	0	0	0	0	0	1	0	0	0	2	0	5	2	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:22729544G>A	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGCACCATCGCCCACAACAA	0.403													A	22729544	G	A	22729544	1	1	364	0	1	0	0	0	0	0	0	0	6322	1102	38	1		1	GBA3	4	22729544	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	22729544	168424732	3727	27229											
PPARGC1A	10891	broad.mit.edu	37	chr4	23803420	23803420	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagctcaaagtcagtttcGtttgacctgcgcaaagtgta	11	12	9	9	2	2	1	2	1	0	0	3	1	2	1	1	0	3	5	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23803420G>A	ENST00000264867.2	-	12	2345	c.2226C>T	c.(2224-2226)aaC>aaT	p.N742N	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	742	RRM.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				AGTCAGTTTCGTTTGACCTGC	0.413													A	23803420	G	A	23803420	2	1	364	1	0	0	0	0	0	0	0	1	12377	1136	40	1		1	PPARGC1A	4	23803420	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1073876	23803420	167350856	3728	27230											
PPARGC1A	10891	broad.mit.edu	37	chr4	23814673	23814673	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggctgtagggcgatcttgaAcgtgatctcacatacaaggg	10	9	13	9	3	2	2	1	2	2	0	3	3	2	2	0	3	2	2	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23814673A>G	ENST00000264867.2	-	9	1988	c.1869T>C	c.(1867-1869)cgT>cgC	p.R623R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	623	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GCGATCTTGAACGTGATCTCA	0.483													G	23814673	A	G	23814673	2	3	364	1	0	0	0	0	0	0	0	1	12377	30	2	3		3	PPARGC1A	4	23814673	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11253	23814673	167339603	3729	27231											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815351	23815351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctggagaccttgatcttgaCctggaatatggtgatcggga	9	11	13	8	1	1	4	0	3	1	1	2	7	1	6	3	4	0	0	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23815351C>T	ENST00000264867.2	-	8	1874	c.1755G>A	c.(1753-1755)agG>agA	p.R585R	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	585	Arg/Ser-rich.				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGATCTTGACCTGGAATATG	0.428													T	23815351	C	T	23815351	2	4	364	1	0	0	0	0	0	0	0	1	12377	506	18	2		2	PPARGC1A	4	23815351	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	678	23815351	167338925	3730	27232											
PPARGC1A	10891	broad.mit.edu	37	chr4	23886363	23886363	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaattaatgtttccaaaGgatgtccttacctcaaatat	16	13	5	7	0	1	0	1	0	0	0	3	2	3	1	3	1	1	1	3	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:23886363G>T	ENST00000507380.1	-	2	323	c.246C>A	c.(244-246)tcC>tcA	p.S82S	PPARGC1A_ENST00000264867.2_Intron			Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	0					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGTTTCCAAAGGATGTCCTTA	0.383													T	23886363	G	T	23886363	2	4	364	1	0	0	0	0	0	0	0	1	12377	1015	35	4		4	PPARGC1A	4	23886363	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71012	23886363	167267913	3731	27233											
LGI2	55203	broad.mit.edu	37	chr4	25005147	25005147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggatgcaaaaaagaaatCtctcctgtcggtggagacag	14	8	11	8	1	1	2	0	0	1	2	4	4	2	3	1	3	1	1	1	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005147C>A	ENST00000382114.4	-	8	1749	c.1564G>T	c.(1564-1566)Gat>Tat	p.D522Y		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	522						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				AAAAAGAAATCTCTCCTGTCG	0.393													A	25005147	C	A	25005147	3	1	364	1	0	0	0	0	1	0	0	0	8812	913	32	4	77	4	LGI2	4	25005147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1118784	25005147	166149129	3732	27234											
LGI2	55203	broad.mit.edu	37	chr4	25005708	25005708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaaagaacgtctcgtcgtCgatctgaaacagctcgatgt	12	9	10	10	5	2	2	0	1	2	1	6	5	2	2	0	0	3	1	0	0	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25005708C>T	ENST00000382114.4	-	8	1188	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	335						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				GTCTCGTCGTCGATCTGAAAC	0.438													T	25005708	C	T	25005708	3	4	364	1	0	0	0	0	1	0	0	0	8812	884	31	1	638	1	LGI2	4	25005708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561	25005708	166148568	3733	27235											
LGI2	55203	broad.mit.edu	37	chr4	25013964	25013964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccacaacacacctgtaatGttgtcatagctccggaaatt	13	10	7	11	1	1	0	1	0	0	0	2	1	2	1	3	1	3	3	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25013964G>A	ENST00000382114.4	-	7	998	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	271						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CACCTGTAATGTTGTCATAGC	0.512													A	25013964	G	A	25013964	2	1	364	1	0	0	0	0	0	0	0	1	8812	1368	48	2		2	LGI2	4	25013964	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8256	25013964	166140312	3734	27236											
PI4K2B	55300	broad.mit.edu	37	chr4	25258202	25258202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagacatttaactataatgCgattgaccgtgcaaaatcaa	16	11	7	7	2	1	2	1	2	0	1	1	4	1	2	1	0	3	1	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25258202C>T	ENST00000264864.6	+	4	851	c.662C>T	c.(661-663)gCg>gTg	p.A221V	PI4K2B_ENST00000512921.1_Missense_Mutation_p.A125V	NM_018323.3	NP_060793.2	Q8TCG2	P4K2B_HUMAN	phosphatidylinositol 4-kinase type 2 beta	221	PI3K/PI4K.					cytoplasm|membrane	1-phosphatidylinositol 4-kinase activity|ATP binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|skin(3)	15		Breast(46;0.173)				AACTATAATGCGATTGACCGT	0.353													T	25258202	C	T	25258202	3	4	364	1	0	0	0	0	1	0	0	0	11949	768	27	1	676	1	PI4K2B	4	25258202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	244238	25258202	165896074	3735	27237											
SLC34A2	10568	broad.mit.edu	37	chr4	25667852	25667852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcttggtgcagagctccaGcacctcaacgtccatcgttg	7	10	10	14	3	2	1	1	0	1	1	5	1	4	1	3	1	4	4	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25667852G>A	ENST00000382051.3	+	5	532	c.482G>A	c.(481-483)aGc>aAc	p.S161N	SLC34A2_ENST00000510033.2_3'UTR|SLC34A2_ENST00000504570.1_Missense_Mutation_p.S160N|SLC34A2_ENST00000503434.1_Missense_Mutation_p.S160N	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	161					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CAGAGCTCCAGCACCTCAACG	0.547			T	ROS1	NSCLC								A	25667852	G	A	25667852	3	1	364	1	0	0	0	0	1	0	0	0	14662	971	34	2	496	2	SLC34A2	4	25667852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	409650	25667852	165486424	3736	27238											
SLC34A2	10568	broad.mit.edu	37	chr4	25676131	25676131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtgtttcccccaggaatCggcgtgataaccattgagag	9	12	11	9	2	0	2	0	2	0	1	2	4	1	3	3	2	1	1	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25676131C>T	ENST00000382051.3	+	12	1388	c.1338C>T	c.(1336-1338)atC>atT	p.I446I	SLC34A2_ENST00000504570.1_Silent_p.I445I|SLC34A2_ENST00000503434.1_Silent_p.I445I	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	446					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCCCAGGAATCGGCGTGATAA	0.567			T	ROS1	NSCLC								T	25676131	C	T	25676131	2	4	364	1	0	0	0	0	0	0	0	1	14662	874	31	1		1	SLC34A2	4	25676131	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8279	25676131	165478145	3737	27239											
SLC34A2	10568	broad.mit.edu	37	chr4	25678251	25678251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgaggacttggaggaggcGcaggaggggcaggatgtccc	8	5	20	8	2	0	0	0	0	0	0	1	6	1	5	1	8	1	2	1	8	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25678251G>A	ENST00000382051.3	+	13	2003	c.1953G>A	c.(1951-1953)gcG>gcA	p.A651A	SLC34A2_ENST00000504570.1_Silent_p.A650A|SLC34A2_ENST00000503434.1_Silent_p.A650A	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	651					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGAGGAGGCGCAGGAGGGGC	0.617			T	ROS1	NSCLC								A	25678251	G	A	25678251	2	1	364	1	0	0	0	0	0	0	0	1	14662	1074	38	1		1	SLC34A2	4	25678251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2120	25678251	165476025	3738	27240											
SEL1L3	23231	broad.mit.edu	37	chr4	25789846	25789846	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaattaagtgattcttacCttgaatagcacaatggcata	15	12	7	7	1	1	2	0	2	1	0	1	3	1	2	1	1	2	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25789846C>A	ENST00000399878.3	-	13	2339	c.2217G>T	c.(2215-2217)aaG>aaT	p.K739N	SEL1L3_ENST00000264868.5_Splice_Site_p.K704N|SEL1L3_ENST00000502949.1_Splice_Site_p.K586N	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	739						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TGATTCTTACCTTGAATAGCA	0.493													A	25789846	C	A	25789846	5	1	364	1	0	0	0	0	0	0	1	0	14105	695	24	4	1229	4	SEL1L3	4	25789846	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111595	25789846	165364430	3739	27241											
SEL1L3	23231	broad.mit.edu	37	chr4	25792082	25792082	+	Missense_Mutation	SNP	C	C	T																															agcctgcgtttttacctgagCtgctgcattgcctcgggtag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792082C>T	ENST00000399878.3	-	12	2193	c.2071G>A	c.(2071-2073)Gct>Act	p.A691T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.A656T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.A538T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	691						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						TTTACCTGAGCTGCTGCATTG	0.423													T	25792082	C	T	25792082	3	4	364	1	0	0	0	0	1	0	0	0	14105	797	28	2	1379	2	SEL1L3	4	25792082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2236	25792082	165362194	3740	27242	58	2									
SEL1L3	23231	broad.mit.edu	37	chr4	25792085	25792085	+	Missense_Mutation	SNP	C	C	T																															ctgcgtttttacctgagctgCtgcattgcctcgggtagctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25792085C>T	ENST00000399878.3	-	12	2190	c.2068G>A	c.(2068-2070)Gca>Aca	p.A690T	SEL1L3_ENST00000264868.5_Missense_Mutation_p.A655T|SEL1L3_ENST00000502949.1_Missense_Mutation_p.A537T	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	690						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGAGCTGCTGCATTGCCT	0.428													T	25792085	C	T	25792085	3	4	364	1	0	0	0	0	1	0	0	0	14105	797	28	2	1382	2	SEL1L3	4	25792085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	25792085	165362191	3741	27243	58	2									
SEL1L3	23231	broad.mit.edu	37	chr4	25819872	25819872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtctcccatacctgcgctgGaggtccaggtaggagttgtg	6	10	15	10	1	1	0	0	0	1	0	3	2	2	2	3	5	2	3	3	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25819872G>A	ENST00000399878.3	-	9	1574	c.1452C>T	c.(1450-1452)ctC>ctT	p.L484L	SEL1L3_ENST00000264868.5_Silent_p.L449L|SEL1L3_ENST00000502949.1_Silent_p.L331L	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	484						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ACCTGCGCTGGAGGTCCAGGT	0.547													A	25819872	G	A	25819872	2	1	364	1	0	0	0	0	0	0	0	1	14105	1161	41	2		2	SEL1L3	4	25819872	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27787	25819872	165334404	3742	27244											
SEL1L3	23231	broad.mit.edu	37	chr4	25835087	25835087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccctcttccgtaagaaatAcagaaggtgtgccgtacatc	12	9	8	12	2	1	2	0	0	1	2	3	2	2	2	3	1	3	2	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:25835087A>G	ENST00000399878.3	-	4	1087	c.965T>C	c.(964-966)gTa>gCa	p.V322A	SEL1L3_ENST00000264868.5_Missense_Mutation_p.V287A|SEL1L3_ENST00000502949.1_Missense_Mutation_p.V169A|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	322						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CGTAAGAAATACAGAAGGTGT	0.373													G	25835087	A	G	25835087	3	3	364	1	0	0	0	0	1	0	0	0	14105	391	14	3	2517	3	SEL1L3	4	25835087	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15215	25835087	165319189	3743	27245											
CCKAR	886	broad.mit.edu	37	chr4	26483461	26483461	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatggggttgacgcaggaGgaggtgtaggacaggaggag	11	6	21	3	1	0	2	0	2	0	0	0	7	0	7	0	8	0	3	0	8	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26483461G>T	ENST00000295589.3	-	5	1280	c.1086C>A	c.(1084-1086)tcC>tcA	p.S362S		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	362					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	TGACGCAGGAGGAGGTGTAGG	0.632													T	26483461	G	T	26483461	2	4	364	1	0	0	0	0	0	0	0	1	2908	987	35	4		4	CCKAR	4	26483461	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648374	26483461	164670815	3744	27246											
CCKAR	886	broad.mit.edu	37	chr4	26490892	26490892	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttgcaaacggcgctcccGaagatgaaatccttgagcag	11	8	11	11	3	1	3	0	2	1	1	3	4	3	3	2	1	3	3	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26490892G>A	ENST00000295589.3	-	2	521	c.327C>T	c.(325-327)ttC>ttT	p.F109F		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	109					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.F109F(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	CGGCGCTCCCGAAGATGAAAT	0.557													A	26490892	G	A	26490892	2	1	364	1	0	0	0	0	0	0	0	1	2908	1049	37	1		1	CCKAR	4	26490892	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7431	26490892	164663384	3745	27247											
TBC1D19	55296	broad.mit.edu	37	chr4	26640404	26640404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccagaggccagttggAgaacagaaagaacttcttaa	14	10	9	8	0	1	4	0	0	1	4	2	5	2	4	2	2	2	1	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26640404A>G	ENST00000264866.4	+	6	659	c.381A>G	c.(379-381)ggA>ggG	p.G127G	TBC1D19_ENST00000511789.1_Silent_p.G62G|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	127						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				GGCCAGTTGGAGAACAGAAAG	0.303													G	26640404	A	G	26640404	2	3	364	1	0	0	0	0	0	0	0	1	15704	291	11	3		3	TBC1D19	4	26640404	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	149512	26640404	164513872	3746	27248											
TBC1D19	55296	broad.mit.edu	37	chr4	26750113	26750113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttgcttttatgggataGaatcctaggatacaactctc	10	14	8	9	0	2	1	0	0	2	1	4	3	3	3	1	2	3	2	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:26750113G>T	ENST00000264866.4	+	19	1678	c.1400G>T	c.(1399-1401)aGa>aTa	p.R467I	TBC1D19_ENST00000511789.1_Missense_Mutation_p.R402I	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	467	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				TTATGGGATAGAATCCTAGGA	0.368													T	26750113	G	T	26750113	3	4	364	1	0	0	0	0	1	0	0	0	15704	942	33	4	1474	4	TBC1D19	4	26750113	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109709	26750113	164404163	3747	27249											
STIM2	57620	broad.mit.edu	37	chr4	27010624	27010624	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatagtgtcacaatttcccGgtaagtggcaatttcaacaa	14	11	7	9	1	2	0	2	0	0	0	3	0	3	0	1	2	1	2	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:27010624G>A	ENST00000382009.3	+	11	2041	c.1774G>A	c.(1774-1776)Ggg>Agg	p.G592R	STIM2_ENST00000467011.1_Splice_Site_p.G497R|STIM2_ENST00000237364.5_Splice_Site_p.G584R|STIM2_ENST00000465503.1_Splice_Site_p.G505R|STIM2_ENST00000412829.2_Splice_Site_p.G584R|STIM2_ENST00000467087.1_Splice_Site_p.G497R	NM_001169118.1	NP_001162589.1	Q9P246	STIM2_HUMAN	stromal interaction molecule 2	497					activation of store-operated calcium channel activity|calcium ion transport|cellular calcium ion homeostasis|negative regulation of calcium ion transport via store-operated calcium channel activity	endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel regulator activity|calcium ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	25		Breast(46;0.0503)				ACAATTTCCCGGTAAGTGGCA	0.408													A	27010624	G	A	27010624	5	1	364	1	0	0	0	0	0	0	1	0	15380	1130	39	1	1555	1	STIM2	4	27010624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260511	27010624	164143652	3748	27250											
PCDH7	5099	broad.mit.edu	37	chr4	30725518	30725518	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtgcaagtgaatgacagtgGgcagccttcccagtccacca	10	7	12	12	0	0	2	0	2	0	0	2	2	2	2	4	2	2	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:30725518G>T	ENST00000361762.2	+	1	3482	c.2474G>T	c.(2473-2475)gGg>gTg	p.G825V	PCDH7_ENST00000543491.1_Missense_Mutation_p.G825V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	825	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AATGACAGTGGGCAGCCTTCC	0.473													T	30725518	G	T	30725518	3	4	364	1	0	0	0	0	1	0	0	0	11592	1232	43	4	2476	4	PCDH7	4	30725518	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3714894	30725518	160428758	3749	27251											
ARAP2	116984	broad.mit.edu	37	chr4	36093627	36093627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agattccttctttgatgcttCccagtgtactccggtctgta	6	16	8	11	1	2	2	0	1	2	1	5	2	5	2	3	1	2	3	3	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36093627C>A	ENST00000303965.4	-	28	4790	c.4301G>T	c.(4300-4302)gGa>gTa	p.G1434V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1434	PH 5.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTTGATGCTTCCCAGTGTACT	0.328													A	36093627	C	A	36093627	3	1	364	1	0	0	0	0	1	0	0	0	842	855	30	4	837	4	ARAP2	4	36093627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5368109	36093627	155060649	3750	27252											
ARAP2	116984	broad.mit.edu	37	chr4	36134931	36134931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgatcttgtaaagcattaCcatctgtacctgctgctttt	8	16	7	10	0	2	1	0	1	2	0	2	1	2	1	2	0	5	6	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:36134931C>T	ENST00000303965.4	-	20	3833	c.3344G>A	c.(3343-3345)gGt>gAt	p.G1115D		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1115					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TAAAGCATTACCATCTGTACC	0.378													T	36134931	C	T	36134931	3	4	364	1	0	0	0	0	1	0	0	0	842	507	18	2	1826	2	ARAP2	4	36134931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41304	36134931	155019345	3751	27253											
C4orf19	55286	broad.mit.edu	37	chr4	37591844	37591844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtgcagaaaaatgaccCtcagaggcagggctcaaaga	14	6	12	9	0	2	4	2	1	0	3	2	4	2	4	1	3	1	3	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37591844C>T	ENST00000284437.6	+	3	345	c.167C>T	c.(166-168)cCt>cTt	p.P56L	C4orf19_ENST00000381980.4_Missense_Mutation_p.P56L|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	56										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AAAAATGACCCTCAGAGGCAG	0.532													T	37591844	C	T	37591844	3	4	364	1	0	0	0	0	1	0	0	0	2275	681	24	2	173	2	C4orf19	4	37591844	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1456913	37591844	153562432	3752	27254											
PGM2	55276	broad.mit.edu	37	chr4	37841824	37841824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccacttctccacaatcCgagtgcttccatcaataatg	11	11	5	14	1	2	0	1	0	1	0	6	1	5	0	4	0	1	1	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37841824C>T	ENST00000381967.4	+	6	762	c.662C>T	c.(661-663)cCg>cTg	p.P221L	PGM2_ENST00000544359.1_Missense_Mutation_p.P82L|PGM2_ENST00000537241.1_Missense_Mutation_p.P61L	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	221					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTCCACAATCCGAGTGCTTCC	0.393													T	37841824	C	T	37841824	3	4	364	1	0	0	0	0	1	0	0	0	11875	652	23	1	684	1	PGM2	4	37841824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249980	37841824	153312452	3753	27255											
PGM2	55276	broad.mit.edu	37	chr4	37848641	37848641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaagagaagaaccaggatcGcagtgctctcaaagacacgt	16	5	11	9	2	1	3	1	0	1	3	3	6	1	4	1	1	2	2	1	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37848641G>A	ENST00000381967.4	+	9	1197	c.1097G>A	c.(1096-1098)cGc>cAc	p.R366H	PGM2_ENST00000544359.1_Missense_Mutation_p.R227H|PGM2_ENST00000537241.1_Missense_Mutation_p.R206H	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	366					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						AACCAGGATCGCAGTGCTCTC	0.488													A	37848641	G	A	37848641	3	1	364	1	0	0	0	0	1	0	0	0	11875	1087	38	1	1131	1	PGM2	4	37848641	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6817	37848641	153305635	3754	27256											
PGM2	55276	broad.mit.edu	37	chr4	37857286	37857286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctttgctaatggaggcGtggccaccatgcgcaccagt	8	9	11	13	2	1	0	1	0	0	0	1	1	1	1	4	3	2	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37857286G>A	ENST00000381967.4	+	13	1760	c.1660G>A	c.(1660-1662)Gtg>Atg	p.V554M	PGM2_ENST00000537241.1_Missense_Mutation_p.V394M	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	554					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TAATGGAGGCGTGGCCACCAT	0.468													A	37857286	G	A	37857286	3	1	364	1	0	0	0	0	1	0	0	0	11875	1145	40	1	1710	1	PGM2	4	37857286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8645	37857286	153296990	3755	27257											
PGM2	55276	broad.mit.edu	37	chr4	37863187	37863188	+	Frame_Shift_Ins	INS	-	-	T																															gtcagtgctattgaagaacaINSttttttccagccacagaagt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:37863187_37863188insT	ENST00000381967.4	+	14	1893_1894	c.1793_1794insT	c.(1792-1797)cattttfs	p.HF598fs	PGM2_ENST00000537241.1_Frame_Shift_Ins_p.HF438fs	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	598					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						ATTGAAGAACATTTTTTCCAGC	0.411													T	37863188	-	T	37863187	7	5	364	1	0	1	1	0	0	0	0	0	11875	217	8	0	1847	0	PGM2	4	37863187	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5901	37863187	153291089	3756	27258											
KLF3	51274	broad.mit.edu	37	chr4	38690303	38690303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctttcagaccccagaagGtctgtcgcacggaatacaga	11	9	10	11	2	3	3	1	0	2	3	4	4	3	4	2	2	1	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38690303G>A	ENST00000261438.5	+	3	460	c.155G>A	c.(154-156)gGt>gAt	p.G52D	KLF3_ENST00000514033.1_Missense_Mutation_p.G52D	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	52	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						ACCCCAGAAGGTCTGTCGCAC	0.517													A	38690303	G	A	38690303	3	1	364	1	0	0	0	0	1	0	0	0	8405	1261	44	2	161	2	KLF3	4	38690303	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	827116	38690303	152463973	3757	27259											
TLR10	81793	broad.mit.edu	37	chr4	38776080	38776080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttattgccattcaaaaTgagagttttcaagtgaggca	13	13	9	6	0	2	2	2	2	0	1	2	3	2	2	1	1	1	3	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776080T>C	ENST00000308973.4	-	4	1737	c.1132A>G	c.(1132-1134)Att>Gtt	p.I378V	TLR10_ENST00000361424.2_Missense_Mutation_p.I378V|TLR10_ENST00000508334.1_Missense_Mutation_p.I378V|TLR10_ENST00000506111.1_Missense_Mutation_p.I378V	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	378					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CCATTCAAAATGAGAGTTTTC	0.333													C	38776080	T	C	38776080	3	2	364	1	0	0	0	0	1	0	0	0	16050	1464	51	3	1307	3	TLR10	4	38776080	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	85777	38776080	152378196	3758	27260											
TLR10	81793	broad.mit.edu	37	chr4	38776140	38776140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactcgtctgttaagatatTattggcaaaatttaaatatt	15	16	5	5	1	1	1	0	0	1	1	2	1	1	1	0	1	1	2	0	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776140T>C	ENST00000308973.4	-	4	1677	c.1072A>G	c.(1072-1074)Aat>Gat	p.N358D	TLR10_ENST00000361424.2_Missense_Mutation_p.N358D|TLR10_ENST00000508334.1_Missense_Mutation_p.N358D|TLR10_ENST00000506111.1_Missense_Mutation_p.N358D	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	358					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						GTTAAGATATTATTGGCAAAA	0.333													C	38776140	T	C	38776140	3	2	364	1	0	0	0	0	1	0	0	0	16050	1754	61	3	1367	3	TLR10	4	38776140	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	60	38776140	152378136	3759	27261											
TLR10	81793	broad.mit.edu	37	chr4	38776289	38776289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtaaaacactctgaaaTgtacatgctccaattttata	16	13	5	7	0	1	1	0	1	1	0	2	2	2	1	1	0	3	3	1	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38776289T>C	ENST00000308973.4	-	4	1528	c.923A>G	c.(922-924)cAt>cGt	p.H308R	TLR10_ENST00000361424.2_Missense_Mutation_p.H308R|TLR10_ENST00000508334.1_Missense_Mutation_p.H308R|TLR10_ENST00000506111.1_Missense_Mutation_p.H308R	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	308					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						CACTCTGAAATGTACATGCTC	0.343													C	38776289	T	C	38776289	3	2	364	1	0	0	0	0	1	0	0	0	16050	1464	51	3	1516	3	TLR10	4	38776289	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	149	38776289	152377987	3760	27262											
TLR1	7096	broad.mit.edu	37	chr4	38799508	38799508	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcatagatataactttgCggaaaaccgaacacatcgct	15	11	6	9	3	1	1	1	0	0	1	2	3	1	2	1	1	4	1	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38799508C>T	ENST00000308979.2	-	4	1218	c.945G>A	c.(943-945)ccG>ccA	p.P315P	TLR1_ENST00000502213.2_Silent_p.P315P	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	315	Interaction with bacterial lipopeptide.		P -> L (in dbSNP:rs5743613).		cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TATAACTTTGCGGAAAACCGA	0.418													T	38799508	C	T	38799508	2	4	364	1	0	0	0	0	0	0	0	1	16049	755	27	1		1	TLR1	4	38799508	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23219	38799508	152354768	3761	27263											
FAM114A1	92689	broad.mit.edu	37	chr4	38930892	38930892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagggagaagaatttgctCgcatgcttacagagcttctc	13	10	10	8	1	1	3	0	0	1	3	3	4	1	3	0	1	4	4	0	1	5	3	rs148278995	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38930892C>T	ENST00000358869.2	+	10	1275	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	FAM114A1_ENST00000515037.1_Missense_Mutation_p.R160C	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	367			R -> H (in dbSNP:rs2306923).			cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGAATTTGCTCGCATGCTTAC	0.413													T	38930892	C	T	38930892	3	4	364	1	0	0	0	0	1	0	0	0	5448	884	31	1	1129	1	FAM114A1	4	38930892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131384	38930892	152223384	3762	27264											
TMEM156	80008	broad.mit.edu	37	chr4	38995560	38995560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacactgaagttaaagtgCtgacaaggtgaatgaaaatc	16	9	10	6	0	0	4	0	4	0	0	1	4	0	4	0	1	2	3	0	1	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:38995560C>A	ENST00000381938.3	-	3	524	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	139						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AGTTAAAGTGCTGACAAGGTG	0.358													A	38995560	C	A	38995560	3	1	364	1	0	0	0	0	1	0	0	0	16173	796	28	4	489	4	TMEM156	4	38995560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64668	38995560	152158716	3763	27265											
KLB	152831	broad.mit.edu	37	chr4	39409299	39409299	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaattcacaacccatatCtagtggcttggcatgggtat	11	13	8	9	0	2	0	1	0	1	0	2	0	2	0	1	3	2	3	1	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39409299C>A	ENST00000257408.4	+	1	827	c.730C>A	c.(730-732)Cta>Ata	p.L244I		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	244	Glycosyl hydrolase-1 1.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAACCCATATCTAGTGGCTTG	0.428													A	39409299	C	A	39409299	3	1	364	1	0	0	0	0	1	0	0	0	8390	912	32	4	732	4	KLB	4	39409299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413739	39409299	151744977	3764	27266											
UGDH	7358	broad.mit.edu	37	chr4	39510268	39510268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacatccttttggaaacagCtcccaccaaaccctgcagaa	14	7	6	14	0	0	1	0	0	0	1	2	3	2	2	4	1	5	2	4	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39510268C>T	ENST00000316423.6	-	7	1166	c.824G>A	c.(823-825)aGc>aAc	p.S275N	UGDH_ENST00000501493.2_Missense_Mutation_p.S208N|UGDH_ENST00000507089.1_Missense_Mutation_p.S178N|UGDH_ENST00000506179.1_Missense_Mutation_p.S275N	NM_001184701.1|NM_003359.3	NP_001171630.1|NP_003350.1	O60701	UGDH_HUMAN	UDP-glucose 6-dehydrogenase	275					glycosaminoglycan biosynthetic process|UDP-glucose metabolic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	cytosol	electron carrier activity|NAD binding|UDP-glucose 6-dehydrogenase activity			breast(1)|central_nervous_system(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(2)	27					NADH(DB00157)	TTGGAAACAGCTCCCACCAAA	0.358													T	39510268	C	T	39510268	3	4	364	1	0	0	0	0	1	0	0	0	17042	797	28	2	684	2	UGDH	4	39510268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100969	39510268	151644008	3765	27267											
PDS5A	23244	broad.mit.edu	37	chr4	39878617	39878617	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaaatgtactcacgatcGtatctggggaaggtctgttt	12	12	11	6	2	3	0	1	0	2	0	4	3	3	1	0	3	1	3	0	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39878617G>A	ENST00000303538.8	-	19	2688	c.2149C>T	c.(2149-2151)Cga>Tga	p.R717*		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	717					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ACTCACGATCGTATCTGGGGA	0.383													A	39878617	G	A	39878617	4	1	364	1	0	0	0	0	0	1	0	0	11767	1153	40	1	1924	1	PDS5A	4	39878617	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368349	39878617	151275659	3766	27268											
PDS5A	23244	broad.mit.edu	37	chr4	39881439	39881439	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctattgacttattcatcAatttcactagtgcactataa	12	16	3	10	0	4	1	3	1	1	0	4	1	4	1	1	0	1	1	1	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39881439A>C	ENST00000303538.8	-	18	2440	c.1901T>G	c.(1900-1902)tTg>tGg	p.L634W		NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	634					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTTATTCATCAATTTCACTAG	0.358													C	39881439	A	C	39881439	3	2	364	1	0	0	0	0	1	0	0	0	11767	131	5	5	2176	5	PDS5A	4	39881439	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2822	39881439	151272837	3767	27269											
PDS5A	23244	broad.mit.edu	37	chr4	39924325	39924325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatgatgatagaactcaTcaaatctagcatgtgcattt	13	14	6	8	0	3	3	2	2	1	1	4	3	4	3	1	0	3	2	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:39924325T>C	ENST00000303538.8	-	6	1110	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	PDS5A_ENST00000503396.1_Missense_Mutation_p.M191V	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	191					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						ATAGAACTCATCAAATCTAGC	0.333													C	39924325	T	C	39924325	3	2	364	1	0	0	0	0	1	0	0	0	11767	1435	50	3	3587	3	PDS5A	4	39924325	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42886	39924325	151229951	3768	27270											
N4BP2	55728	broad.mit.edu	37	chr4	40108548	40108548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggataatccaagtggaGtcattcttagtactgatgat	14	12	10	5	0	2	3	1	2	1	1	3	5	3	5	1	2	1	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40108548G>A	ENST00000261435.6	+	5	1818	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	468						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						TCCAAGTGGAGTCATTCTTAG	0.318													A	40108548	G	A	40108548	3	1	364	1	0	0	0	0	1	0	0	0	10186	1029	36	2	1412	2	N4BP2	4	40108548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184223	40108548	151045728	3769	27271											
N4BP2	55728	broad.mit.edu	37	chr4	40121734	40121734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaaataagtgataTgaatcctagcattcaaagtg	20	9	8	4	0	1	4	1	2	0	2	2	4	2	4	1	0	1	1	1	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40121734T>C	ENST00000261435.6	+	9	2419	c.2003T>C	c.(2002-2004)aTg>aCg	p.M668T		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	668						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						ATAAGTGATATGAATCCTAGC	0.338													C	40121734	T	C	40121734	3	2	364	1	0	0	0	0	1	0	0	0	10186	1464	51	3	2029	3	N4BP2	4	40121734	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13186	40121734	151032542	3770	27272											
N4BP2	55728	broad.mit.edu	37	chr4	40133443	40133443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggagacccttatgtttgAaaaagattgtgccactaaac	15	10	9	7	0	0	3	0	1	0	2	0	4	0	3	2	1	2	1	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40133443A>G	ENST00000261435.6	+	13	4966	c.4550A>G	c.(4549-4551)gAa>gGa	p.E1517G		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	1517						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						CTTATGTTTGAAAAAGATTGT	0.343													G	40133443	A	G	40133443	3	3	364	1	0	0	0	0	1	0	0	0	10186	246	9	3	4592	3	N4BP2	4	40133443	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11709	40133443	151020833	3771	27273											
APBB2	323	broad.mit.edu	37	chr4	40823961	40823961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaacgtggcactcaaagCgctggttccccgtgtccatg	10	8	11	12	3	1	1	1	0	0	1	3	1	3	1	3	2	2	3	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40823961C>T	ENST00000295974.8	-	17	2665	c.2036G>A	c.(2035-2037)cGc>cAc	p.R679H	APBB2_ENST00000508593.1_Missense_Mutation_p.R680H|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000513140.1_Missense_Mutation_p.R657H|APBB2_ENST00000506352.1_Missense_Mutation_p.R658H|APBB2_ENST00000502841.1_Missense_Mutation_p.R131H|APBB2_ENST00000543538.1_Missense_Mutation_p.R131H|APBB2_ENST00000504305.1_Missense_Mutation_p.R131H	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	679	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GCACTCAAAGCGCTGGTTCCC	0.552													T	40823961	C	T	40823961	3	4	364	1	0	0	0	0	1	0	0	0	763	768	27	1	248	1	APBB2	4	40823961	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	690518	40823961	150330315	3772	27274											
APBB2	323	broad.mit.edu	37	chr4	40825774	40825774	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcactgttcaaaatatccaTtcctggggacagaaaaggat	14	9	10	8	0	1	1	1	0	0	1	3	3	3	3	2	4	0	2	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:40825774T>G	ENST00000295974.8	-	16	2445	c.1816A>C	c.(1816-1818)Atg>Ctg	p.M606L	APBB2_ENST00000508593.1_Missense_Mutation_p.M607L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000513140.1_Missense_Mutation_p.M584L|APBB2_ENST00000506352.1_Missense_Mutation_p.M585L|APBB2_ENST00000502841.1_Missense_Mutation_p.M58L|APBB2_ENST00000543538.1_Missense_Mutation_p.M58L|APBB2_ENST00000504305.1_Missense_Mutation_p.M58L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	606	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						AAAATATCCATTCCTGGGGAC	0.448													G	40825774	T	G	40825774	3	3	364	1	0	0	0	0	1	0	0	0	763	1493	52	5	472	5	APBB2	4	40825774	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1813	40825774	150328502	3773	27275											
APBB2	323	broad.mit.edu	37	chr4	41015610	41015610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtacctgtttcatcCggggagctgggtgaggcact	6	9	16	10	1	1	1	1	1	0	0	2	2	2	2	3	6	2	4	3	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512													T	41015610	C	T	41015610	2	4	364	1	0	0	0	0	0	0	0	1	763	639	23	1		1	APBB2	4	41015610	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189836	41015610	150138666	3774	27276											
APBB2	323	broad.mit.edu	37	chr4	41015670	41015670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctggactcctcatcgctCggtgccaggttctggatccg	5	10	12	14	3	2	0	1	0	1	0	6	2	4	2	3	4	2	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41015670C>T	ENST00000295974.8	-	6	1394	c.765G>A	c.(763-765)ccG>ccA	p.P255P	APBB2_ENST00000513140.1_Silent_p.P255P|APBB2_ENST00000506352.1_Silent_p.P255P|APBB2_ENST00000508593.1_Silent_p.P255P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	255					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CCTCATCGCTCGGTGCCAGGT	0.582													T	41015670	C	T	41015670	2	4	364	1	0	0	0	0	0	0	0	1	763	871	31	1		1	APBB2	4	41015670	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	41015670	150138606	3775	27277											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984211	41984211	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtccctgtgctgggcctcGctgaaccagttggactctca	7	10	11	13	1	1	1	1	1	1	0	4	2	2	2	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:41984211G>A	ENST00000333141.5	+	1	499	c.402G>A	c.(400-402)tcG>tcA	p.S134S		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	134										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						GCTGGGCCTCGCTGAACCAGT	0.562													A	41984211	G	A	41984211	2	1	364	1	0	0	0	0	0	0	0	1	4305	1074	38	1		1	DCAF4L1	4	41984211	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	968541	41984211	149170065	3776	27278											
BEND4	389206	broad.mit.edu	37	chr4	42119622	42119622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttcataaaatgagccaccGttgtgcaggaaagtccccac	12	8	8	13	1	1	1	1	1	0	0	2	2	2	2	5	1	2	2	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42119622G>A	ENST00000502486.1	-	6	2097	c.1518C>T	c.(1516-1518)aaC>aaT	p.N506N	BEND4_ENST00000504360.1_3'UTR	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	506										NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						ATGAGCCACCGTTGTGCAGGA	0.532													A	42119622	G	A	42119622	2	1	364	1	0	0	0	0	0	0	0	1	1405	1136	40	1		1	BEND4	4	42119622	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135411	42119622	149034654	3777	27279											
ATP8A1	10396	broad.mit.edu	37	chr4	42445621	42445621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcggaatggcaggccaCagagatgagtagattccaaa	14	6	12	9	1	0	3	0	1	0	2	2	5	1	4	3	3	0	2	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:42445621C>T	ENST00000381668.5	-	33	3315	c.3084G>A	c.(3082-3084)ctG>ctA	p.L1028L	ATP8A1_ENST00000264449.10_Silent_p.L1013L	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1028					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGGCAGGCCACAGAGATGAGT	0.438													T	42445621	C	T	42445621	2	4	364	1	0	0	0	0	0	0	0	1	1197	465	17	2		2	ATP8A1	4	42445621	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325999	42445621	148708655	3778	27280											
GUF1	60558	broad.mit.edu	37	chr4	44682469	44682469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctaggaaaaacttgaCatgtctaggtttcctgttga	10	15	8	8	0	2	2	0	2	2	0	3	3	3	3	2	2	1	2	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:44682469C>T	ENST00000281543.5	+	2	371	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GUF1_ENST00000506793.1_Intron	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	59					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AAAAACTTGACATGTCTAGGT	0.338													T	44682469	C	T	44682469	2	4	364	1	0	0	0	0	0	0	0	1	6954	477	17	2		2	GUF1	4	44682469	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2236848	44682469	146471807	3779	27281											
GABRG1	2565	broad.mit.edu	37	chr4	46043152	46043152	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttctgcagtcttcaaagcaAcagaagaagctggcacaatc	14	8	9	10	0	3	2	1	0	2	2	4	2	3	2	0	1	4	5	0	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46043152A>G	ENST00000295452.4	-	9	1418	c.1251T>C	c.(1249-1251)tgT>tgC	p.C417C		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		CTTCAAAGCAACAGAAGAAGC	0.418													G	46043152	A	G	46043152	2	3	364	1	0	0	0	0	0	0	0	1	6223	41	2	3		3	GABRG1	4	46043152	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1360683	46043152	145111124	3780	27282											
GABRG1	2565	broad.mit.edu	37	chr4	46060347	46060347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgaaatatcccattcttCtgctcaggtcaaaaaaaatt	15	13	5	8	0	4	1	2	1	2	0	5	1	5	1	1	1	1	1	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46060347C>A	ENST00000295452.4	-	7	970	c.803G>T	c.(802-804)aGa>aTa	p.R268I		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	268					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TCCCATTCTTCTGCTCAGGTC	0.318													A	46060347	C	A	46060347	3	1	364	1	0	0	0	0	1	0	0	0	6223	913	32	4	606	4	GABRG1	4	46060347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17195	46060347	145093929	3781	27283											
GABRG1	2565	broad.mit.edu	37	chr4	46067578	46067578	+	Frame_Shift_Del	DEL	A	A	-																															ctgtcaaaccaggtttgggcAaaaattatatctattgtata																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067578delA	ENST00000295452.4	-	4	512	c.345delT	c.(343-345)tttfs	p.F115fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	115					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGGTTTGGGCAAAAATTATAT	0.284													-	46067578	A	-	46067578	7	5	364	1	0	1	0	1	0	0	0	0	6223	127	5	0	1076	0	GABRG1	4	46067578	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	7231	46067578	145086698	3782	27284	59	3									
GABRG1	2565	broad.mit.edu	37	chr4	46067586	46067586	+	Missense_Mutation	SNP	T	T	A																															ccaggtttgggcaaaaattaTatctattgtatattcctaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067586T>A	ENST00000295452.4	-	4	504	c.337A>T	c.(337-339)Ata>Tta	p.I113L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	113					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		GCAAAAATTATATCTATTGTA	0.274													A	46067586	T	A	46067586	3	1	364	1	0	0	0	0	1	0	0	0	6223	1406	49	5	1084	5	GABRG1	4	46067586	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8	46067586	145086690	3783	27285	59	3									
GABRG1	2565	broad.mit.edu	37	chr4	46067588	46067588	+	Missense_Mutation	SNP	T	T	A																															aggtttgggcaaaaattataTctattgtatattcctaaaat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46067588T>A	ENST00000295452.4	-	4	502	c.335A>T	c.(334-336)gAt>gTt	p.D112V		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	112					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AAAAATTATATCTATTGTATA	0.269													A	46067588	T	A	46067588	3	1	364	1	0	0	0	0	1	0	0	0	6223	1435	50	5	1086	5	GABRG1	4	46067588	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2	46067588	145086688	3784	27286	59	3									
COX7B2	170712	broad.mit.edu	37	chr4	46737055	46737055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgtaaacacccatgtaGcaacacagaaagcagttcca	15	7	8	11	0	0	1	0	0	0	1	1	1	1	1	2	1	4	6	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46737055G>A	ENST00000396533.1	-	4	405	c.155C>T	c.(154-156)gCt>gTt	p.A52V	COX7B2_ENST00000302930.5_Missense_Mutation_p.A52V|COX7B2_ENST00000543208.1_Missense_Mutation_p.A51V|COX7B2_ENST00000355591.3_Missense_Mutation_p.A52V			Q8TF08	CX7B2_HUMAN	cytochrome c oxidase subunit VIIb2	52						integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			large_intestine(1)|lung(4)	5						CACCCATGTAGCAACACAGAA	0.438													A	46737055	G	A	46737055	3	1	364	1	0	0	0	0	1	0	0	0	3814	971	34	2	94	2	COX7B2	4	46737055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	669467	46737055	144417221	3785	27287											
GABRA4	2557	broad.mit.edu	37	chr4	46981050	46981050	+	Frame_Shift_Del	DEL	T	T	-																															aacttcgaaaatacctaccaTttcaacatcagaaacaggtc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46981050delT	ENST00000264318.3	-	3	1253	c.271delA	c.(271-273)atgfs	p.M91fs		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	91					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATACCTACCATTTCAACATCA	0.333													-	46981050	T	-	46981050	7	5	364	1	0	1	0	1	0	0	0	0	6215	1493	52	0	1421	0	GABRA4	4	46981050	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	243995	46981050	144173226	3786	27288											
GABRA4	2557	broad.mit.edu	37	chr4	46994913	46994913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgcgggtgaaatttTctgtgcacaatttctcctcc	8	13	9	11	1	2	1	0	1	2	0	4	2	3	2	3	2	2	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:46994913T>C	ENST00000264318.3	-	2	1119	c.137A>G	c.(136-138)gAa>gGa	p.E46G	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	46					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTGAAATTTTCTGTGCACAA	0.458													C	46994913	T	C	46994913	3	2	364	1	0	0	0	0	1	0	0	0	6215	1783	62	3	1559	3	GABRA4	4	46994913	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13863	46994913	144159363	3787	27289											
GABRB1	2560	broad.mit.edu	37	chr4	47427785	47427785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgtgagcgaccccaaggCcaccatgtactcctatgaca	11	6	10	14	2	0	2	0	2	0	0	1	4	1	2	5	1	3	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427785C>T	ENST00000295454.3	+	9	1467	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V	GABRB1_ENST00000538619.1_Missense_Mutation_p.A322V	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	392					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GACCCCAAGGCCACCATGTAC	0.647													T	47427785	C	T	47427785	3	4	364	1	0	0	0	0	1	0	0	0	6218	739	26	2	1209	2	GABRB1	4	47427785	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	432872	47427785	143726491	3788	27290											
GABRB1	2560	broad.mit.edu	37	chr4	47427823	47427823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgccagcatccagtacCgcaagcccctgagcagccgc	10	3	10	18	3	0	1	0	1	0	0	1	1	1	1	6	0	6	4	6	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47427823C>T	ENST00000295454.3	+	9	1505	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C	GABRB1_ENST00000538619.1_Missense_Mutation_p.R335C	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	405					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CATCCAGTACCGCAAGCCCCT	0.662													T	47427823	C	T	47427823	3	4	364	1	0	0	0	0	1	0	0	0	6218	652	23	1	1247	1	GABRB1	4	47427823	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38	47427823	143726453	3789	27291											
ATP10D	57205	broad.mit.edu	37	chr4	47517672	47517672	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagatcaataatttaataaCtaaagtttatagtaggtaag	19	13	6	3	0	1	1	1	0	0	1	1	1	1	1	0	1	1	3	0	1	10	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47517672C>A	ENST00000273859.3	+	3	739	c.470C>A	c.(469-471)aCt>aAt	p.T157N	ATP10D_ENST00000504445.1_Missense_Mutation_p.T157N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	157					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATTTAATAACTAAAGTTTAT	0.338													A	47517672	C	A	47517672	3	1	364	1	0	0	0	0	1	0	0	0	1123	565	20	4	476	4	ATP10D	4	47517672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89849	47517672	143636604	3790	27292											
ATP10D	57205	broad.mit.edu	37	chr4	47537530	47537530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtctttcttatagagaaCattccaacaaagaacgcgtg	13	11	8	9	2	2	2	0	0	2	2	3	3	3	2	1	0	3	1	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47537530C>T	ENST00000273859.3	+	6	1050	c.781C>T	c.(781-783)Cat>Tat	p.H261Y	ATP10D_ENST00000504445.1_Missense_Mutation_p.H261Y	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	261					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						TTATAGAGAACATTCCAACAA	0.373													T	47537530	C	T	47537530	3	4	364	1	0	0	0	0	1	0	0	0	1123	478	17	2	799	2	ATP10D	4	47537530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19858	47537530	143616746	3791	27293											
ATP10D	57205	broad.mit.edu	37	chr4	47548731	47548731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcaatatggcaaaacCgagagcccccagctgcagga	13	4	10	14	1	1	1	1	0	0	1	1	3	1	2	4	2	5	4	4	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548731C>T	ENST00000273859.3	+	10	1756	c.1487C>T	c.(1486-1488)cCg>cTg	p.P496L	ATP10D_ENST00000504445.1_Missense_Mutation_p.P481L	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	496					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGGCAAAACCGAGAGCCCCC	0.483													T	47548731	C	T	47548731	3	4	364	1	0	0	0	0	1	0	0	0	1123	652	23	1	1521	1	ATP10D	4	47548731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11201	47548731	143605545	3792	27294											
ATP10D	57205	broad.mit.edu	37	chr4	47548743	47548743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaaaaccgagagcccccaGctgcaggacagttcataatg	13	5	11	12	1	1	1	1	0	0	1	1	3	1	2	3	2	4	4	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47548743G>A	ENST00000273859.3	+	10	1768	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N	ATP10D_ENST00000504445.1_Missense_Mutation_p.S485N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	500					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGAGCCCCCAGCTGCAGGACA	0.483													A	47548743	G	A	47548743	3	1	364	1	0	0	0	0	1	0	0	0	1123	971	34	2	1533	2	ATP10D	4	47548743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	47548743	143605533	3793	27295											
ATP10D	57205	broad.mit.edu	37	chr4	47593308	47593308	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctattgagcaaggaaaCttatctctgtgtgaaactgc	11	13	10	7	0	1	2	0	2	1	0	2	3	1	3	0	1	5	2	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47593308C>A	ENST00000273859.3	+	23	4460	c.4191C>A	c.(4189-4191)aaC>aaA	p.N1397K		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1397					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AGCAAGGAAACTTATCTCTGT	0.463													A	47593308	C	A	47593308	3	1	364	1	0	0	0	0	1	0	0	0	1123	564	20	4	4277	4	ATP10D	4	47593308	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44565	47593308	143560968	3794	27296											
CORIN	10699	broad.mit.edu	37	chr4	47625742	47625742	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccttttgttcattcgggCagcagggcggcgcccacagt	6	10	13	12	3	1	0	1	0	0	0	3	1	2	0	2	3	1	3	2	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47625742C>A	ENST00000273857.4	-	19	2385	c.2386G>T	c.(2386-2388)Gcc>Tcc	p.A796S	CORIN_ENST00000508498.1_Missense_Mutation_p.A657S|CORIN_ENST00000515827.1_5'UTR|CORIN_ENST00000502252.1_Missense_Mutation_p.A729S|CORIN_ENST00000505909.1_Missense_Mutation_p.A759S	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	796	SRCR.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						TTCATTCGGGCAGCAGGGCGG	0.532													A	47625742	C	A	47625742	3	1	364	1	0	0	0	0	1	0	0	0	3783	710	25	4	758	4	CORIN	4	47625742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32434	47625742	143528534	3795	27297											
CORIN	10699	broad.mit.edu	37	chr4	47645223	47645223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcacaccacaggtcacGtgacacacacgcatggtttg	12	7	8	14	2	2	1	2	1	0	0	2	1	2	1	2	2	0	2	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47645223G>A	ENST00000273857.4	-	15	2007	c.2008C>T	c.(2008-2010)Cgt>Tgt	p.R670C	CORIN_ENST00000508498.1_Missense_Mutation_p.R531C|CORIN_ENST00000504584.1_Missense_Mutation_p.R633C|CORIN_ENST00000502252.1_Missense_Mutation_p.R603C|CORIN_ENST00000505909.1_Missense_Mutation_p.R633C	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	670	LDL-receptor class A 7.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CACAGGTCACGTGACACACAC	0.453													A	47645223	G	A	47645223	3	1	364	1	0	0	0	0	1	0	0	0	3783	1145	40	1	1152	1	CORIN	4	47645223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19481	47645223	143509053	3796	27298											
CORIN	10699	broad.mit.edu	37	chr4	47663803	47663803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgactgcaatctgtgtCttcaggccactgtaggccca	10	11	9	11	0	3	1	1	1	2	0	3	1	3	1	2	2	1	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47663803C>A	ENST00000273857.4	-	12	1659	c.1660G>T	c.(1660-1662)Gac>Tac	p.D554Y	CORIN_ENST00000508498.1_Missense_Mutation_p.D415Y|CORIN_ENST00000504584.1_Missense_Mutation_p.D517Y|CORIN_ENST00000502252.1_Missense_Mutation_p.D487Y|CORIN_ENST00000505909.1_Missense_Mutation_p.D517Y	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	554	FZ 2.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CAATCTGTGTCTTCAGGCCAC	0.398													A	47663803	C	A	47663803	3	1	364	1	0	0	0	0	1	0	0	0	3783	913	32	4	1512	4	CORIN	4	47663803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18580	47663803	143490473	3797	27299											
NFXL1	152518	broad.mit.edu	37	chr4	47857181	47857181	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctatgaccacaaggaagCtaaaataaaatcaaaataaa	23	7	4	7	0	2	1	1	1	1	0	2	2	2	2	1	1	1	1	1	1	11	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47857181C>T	ENST00000507489.1	-	20	2493		c.e20-1		NFXL1_ENST00000381538.3_Splice_Site	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1							integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						CACAAGGAAGCTAAAATAAAA	0.358													T	47857181	C	T	47857181	5	4	364	1	0	0	0	0	0	0	1	0	10464	811	28	2	435	2	NFXL1	4	47857181	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193378	47857181	143297095	3798	27300											
NFXL1	152518	broad.mit.edu	37	chr4	47887941	47887941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttgtggtacgttctcggCcacagggcactgtcaccttt	5	13	11	12	2	3	0	1	0	2	0	4	0	3	0	2	3	1	3	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47887941C>T	ENST00000507489.1	-	13	1795	c.1619G>A	c.(1618-1620)gGc>gAc	p.G540D	NFXL1_ENST00000381538.3_Missense_Mutation_p.G540D|NFXL1_ENST00000329043.3_Missense_Mutation_p.G540D	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	540						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						ACGTTCTCGGCCACAGGGCAC	0.438													T	47887941	C	T	47887941	3	4	364	1	0	0	0	0	1	0	0	0	10464	739	26	2	1160	2	NFXL1	4	47887941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30760	47887941	143266335	3799	27301											
CNGA1	1259	broad.mit.edu	37	chr4	47942779	47942779	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaaaactgaacatatttaCctgtccttgttcgtacaaac	13	14	4	10	1	1	1	1	1	0	0	3	1	2	1	2	0	5	2	2	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:47942779C>T	ENST00000402813.3	-	9	1014		c.e9+1		CNGA1_ENST00000514170.1_Splice_Site|CNGA1_ENST00000544810.1_Splice_Site|CNGA1_ENST00000420489.2_Splice_Site|CNGA1_ENST00000358519.4_Splice_Site			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1						response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						AACATATTTACCTGTCCTTGT	0.294													T	47942779	C	T	47942779	5	4	364	1	0	0	0	0	0	0	1	0	3627	521	18	2	1415	2	CNGA1	4	47942779	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54838	47942779	143211497	3800	27302											
TXK	7294	broad.mit.edu	37	chr4	48088512	48088512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctcttcaatgaaatcCtcttcagacatggagccttc	9	13	7	12	0	4	2	2	1	2	1	6	3	5	3	3	2	1	0	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48088512C>A	ENST00000264316.4	-	10	1012	c.927G>T	c.(925-927)gaG>gaT	p.E309D		NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	309	Protein kinase.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						CAATGAAATCCTCTTCAGACA	0.443													A	48088512	C	A	48088512	3	1	364	1	0	0	0	0	1	0	0	0	16888	680	24	4	680	4	TXK	4	48088512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145733	48088512	143065764	3801	27303											
FRYL	285527	broad.mit.edu	37	chr4	48502119	48502119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcaattaaagaatgaatgGcagtttctatagtagtttgt	13	17	8	3	0	2	2	1	1	1	1	2	2	2	2	0	1	0	4	0	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48502119G>A	ENST00000537810.1	-	63	9315	c.8711C>T	c.(8710-8712)gCc>gTc	p.A2904V	FRYL_ENST00000503238.1_Missense_Mutation_p.A2904V|FRYL_ENST00000358350.4_Missense_Mutation_p.A2904V|FRYL_ENST00000507873.2_Missense_Mutation_p.A294V|FRYL_ENST00000264319.7_Missense_Mutation_p.A294V			O94915	FRYL_HUMAN	FRY-like	2904					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AGAATGAATGGCAGTTTCTAT	0.368													A	48502119	G	A	48502119	3	1	364	1	0	0	0	0	1	0	0	0	6116	1203	42	2	338	2	FRYL	4	48502119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	413607	48502119	142652157	3802	27304											
FRYL	285527	broad.mit.edu	37	chr4	48563643	48563643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatagcgaaacatcttcGgttccagaatctataggaat	14	10	9	8	2	2	1	0	0	2	1	4	4	3	2	1	2	3	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48563643G>A	ENST00000537810.1	-	33	4311	c.3707C>T	c.(3706-3708)cCg>cTg	p.P1236L	FRYL_ENST00000503238.1_Missense_Mutation_p.P1236L|FRYL_ENST00000507711.1_Missense_Mutation_p.P1236L|FRYL_ENST00000358350.4_Missense_Mutation_p.P1236L|FRYL_ENST00000264319.7_5'UTR			O94915	FRYL_HUMAN	FRY-like	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						AAACATCTTCGGTTCCAGAAT	0.338													A	48563643	G	A	48563643	3	1	364	1	0	0	0	0	1	0	0	0	6116	1116	39	1	5462	1	FRYL	4	48563643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61524	48563643	142590633	3803	27305											
FRYL	285527	broad.mit.edu	37	chr4	48621374	48621374	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaagataatctctttcacGttgctgttcatccctgaaac	12	13	6	10	1	3	3	2	1	1	2	5	3	4	3	1	0	2	3	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48621374G>A	ENST00000264319.7	-	0	932				FRYL_ENST00000503238.1_Missense_Mutation_p.R110C|FRYL_ENST00000537810.1_Missense_Mutation_p.R110C|FRYL_ENST00000507711.1_Missense_Mutation_p.R110C|FRYL_ENST00000358350.4_Missense_Mutation_p.R110C			O94915	FRYL_HUMAN	FRY-like						regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						TCTCTTTCACGTTGCTGTTCA	0.333													A	48621374	G	A	48621374	1	1	364	1	0	0	0	0	0	0	0	0	6116	1145	40	1		1	FRYL	4	48621374	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57731	48621374	142532902	3804	27306											
OCIAD1	54940	broad.mit.edu	37	chr4	48834663	48834663	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaatgggagggctgattttCgagagccgaatgcagaggtt	10	10	16	5	2	0	4	0	2	0	2	1	7	0	5	1	3	2	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:48834663C>T	ENST00000425583.2	+	2	297	c.22C>T	c.(22-24)Cga>Tga	p.R8*	OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000512981.1_Intron|OCIAD1_ENST00000381473.3_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000444354.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000264312.7_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000509122.1_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000396448.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000513391.2_Nonsense_Mutation_p.R8*|OCIAD1_ENST00000508293.1_Nonsense_Mutation_p.R8*	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	8	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						GGCTGATTTTCGAGAGCCGAA	0.348													T	48834663	C	T	48834663	4	4	364	1	0	0	0	0	0	1	0	0	10893	876	31	1	43	1	OCIAD1	4	48834663	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	213289	48834663	142319613	3805	27307											
CWH43	80157	broad.mit.edu	37	chr4	49005809	49005809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgggcagctgctgtgtctgGctgtgtcttcgccatcttta	4	15	12	10	1	3	0	0	0	3	0	4	0	3	0	1	2	2	4	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:49005809G>A	ENST00000226432.4	+	7	1043	c.860G>A	c.(859-861)gGc>gAc	p.G287D	CWH43_ENST00000513409.1_Missense_Mutation_p.G260D	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	287					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						GCTGTGTCTGGCTGTGTCTTC	0.512													A	49005809	G	A	49005809	3	1	364	1	0	0	0	0	1	0	0	0	4106	1203	42	2	886	2	CWH43	4	49005809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171146	49005809	142148467	3806	27308											
DCUN1D4	23142	broad.mit.edu	37	chr4	52729856	52729856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctaacagaagacattggCcaagacgatcaccaaacagg	18	4	8	11	1	1	3	1	0	0	3	1	4	1	3	3	2	3	0	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52729856C>T	ENST00000334635.5	+	3	297	c.117C>T	c.(115-117)ggC>ggT	p.G39G	DCUN1D4_ENST00000513800.1_3'UTR|DCUN1D4_ENST00000451288.2_Silent_p.G83G|DCUN1D4_ENST00000381437.4_5'UTR|DCUN1D4_ENST00000381441.3_Silent_p.G39G	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	39										endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			AAGACATTGGCCAAGACGATC	0.323													T	52729856	C	T	52729856	2	4	364	1	0	0	0	0	0	0	0	1	4350	726	26	2		2	DCUN1D4	4	52729856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3724047	52729856	138424420	3807	27309											
SGCB	6443	broad.mit.edu	37	chr4	52895891	52895891	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcatttcgccttcctcCtactgtgcttttataaagag	8	18	5	10	1	1	1	1	0	0	1	4	1	3	1	3	0	2	1	3	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52895891C>A	ENST00000381431.5	-	3	604	c.382G>T	c.(382-384)Gga>Tga	p.G128*	SGCB_ENST00000535450.1_Nonsense_Mutation_p.G58*	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	128	Cys-rich.				cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGCCTTCCTCCTACTGTGCTT	0.428													A	52895891	C	A	52895891	4	1	364	1	0	0	0	0	0	1	0	0	14293	690	24	4	590	4	SGCB	4	52895891	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166035	52895891	138258385	3808	27310											
SPATA18	132671	broad.mit.edu	37	chr4	52927056	52927056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgacagcaaggtcccctCtctgcaggtagggatgctga	8	10	13	10	0	1	2	0	2	1	0	3	3	2	3	2	3	3	5	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:52927056C>T	ENST00000295213.4	+	3	676	c.302C>T	c.(301-303)tCt>tTt	p.S101F	SPATA18_ENST00000419395.2_Missense_Mutation_p.S101F|SPATA18_ENST00000506829.1_Intron	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	101					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AAGGTCCCCTCTCTGCAGGTA	0.463													T	52927056	C	T	52927056	3	4	364	1	0	0	0	0	1	0	0	0	15099	913	32	2	312	2	SPATA18	4	52927056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31165	52927056	138227220	3809	27311											
RASL11B	65997	broad.mit.edu	37	chr4	53731770	53731770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcattctatgaagtgtCtgtcagtgaaaattataatg	12	15	8	6	0	4	2	2	2	2	0	4	2	4	2	0	0	1	1	0	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53731770C>A	ENST00000248706.3	+	4	763	c.545C>A	c.(544-546)tCt>tAt	p.S182Y	RASL11B_ENST00000505041.1_3'UTR	NM_023940.2	NP_076429.1	Q9BPW5	RSLBB_HUMAN	RAS-like, family 11, member B	182	Small GTPase-like.				small GTPase mediated signal transduction	membrane	GTP binding|GTPase activity			autonomic_ganglia(1)|central_nervous_system(1)|lung(5)|ovary(1)|stomach(1)	9			LUSC - Lung squamous cell carcinoma(32;0.0302)			TATGAAGTGTCTGTCAGTGAA	0.498													A	53731770	C	A	53731770	3	1	364	1	0	0	0	0	1	0	0	0	13170	913	32	4	559	4	RASL11B	4	53731770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	804714	53731770	137422506	3810	27312											
SCFD2	152579	broad.mit.edu	37	chr4	53740162	53740162	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggtctggatgcagtcGgtcagttgcaaataacagct	11	9	12	9	1	2	0	1	0	1	0	3	1	2	1	1	3	4	4	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:53740162G>A	ENST00000401642.3	-	9	2162	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	SCFD2_ENST00000388940.4_Nonsense_Mutation_p.R632*	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	677					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GGATGCAGTCGGTCAGTTGCA	0.493													A	53740162	G	A	53740162	4	1	364	1	0	0	0	0	0	1	0	0	13982	1124	39	1	29	1	SCFD2	4	53740162	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8392	53740162	137414114	3811	27313											
SCFD2	152579	broad.mit.edu	37	chr4	54011572	54011572	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaatgctttcttgacttTttcttctgcttcacacaggt	7	17	6	11	0	4	1	1	1	3	0	4	1	4	1	1	1	3	2	1	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54011572T>G	ENST00000401642.3	-	5	1622	c.1489A>C	c.(1489-1491)Aaa>Caa	p.K497Q	SCFD2_ENST00000388940.4_Missense_Mutation_p.K497Q	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	497					protein transport|vesicle docking involved in exocytosis					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TTCTTGACTTTTTCTTCTGCT	0.443													G	54011572	T	G	54011572	3	3	364	1	0	0	0	0	1	0	0	0	13982	1850	64	5	585	5	SCFD2	4	54011572	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	271410	54011572	137142704	3812	27314											
LNX1	84708	broad.mit.edu	37	chr4	54362284	54362284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcctcaagctgaccatgtCgatatgccacaccgccatcc	9	9	6	17	2	2	1	1	1	1	0	5	2	3	1	6	0	2	1	6	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54362284C>T	ENST00000306888.2	-	5	1219	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	LNX1_ENST00000263925.7_Missense_Mutation_p.R419Q|FIP1L1_ENST00000507166.1_Intron	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	419	PDZ 1.					cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTGACCATGTCGATATGCCAC	0.507													T	54362284	C	T	54362284	3	4	364	1	0	0	0	0	1	0	0	0	8926	884	31	1	954	1	LNX1	4	54362284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	350712	54362284	136791992	3813	27315											
LNX1	84708	broad.mit.edu	37	chr4	54374161	54374161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttgactcacccctagttCggttgctccggccagagtcc	6	11	9	15	2	1	2	1	1	0	1	4	2	3	2	5	2	1	3	5	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:54374161C>T	ENST00000306888.2	-	2	577	c.326G>A	c.(325-327)cGa>cAa	p.R109Q	LNX1-AS1_ENST00000510785.1_RNA|LNX1_ENST00000263925.7_Missense_Mutation_p.R205Q|FIP1L1_ENST00000507166.1_Intron|LNX1-AS1_ENST00000514364.1_RNA|LNX1-AS1_ENST00000511989.1_RNA	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	205						cytoplasm	zinc ion binding	p.R109Q(1)		autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ACCCCTAGTTCGGTTGCTCCG	0.552													T	54374161	C	T	54374161	3	4	364	1	0	0	0	0	1	0	0	0	8926	884	31	1	1608	1	LNX1	4	54374161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11877	54374161	136780115	3814	27316											
PDGFRA	5156	broad.mit.edu	37	chr4	55156518	55156518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggacttcctgaagagtgaCcatcctgctgtggcacgcat	8	10	11	12	1	0	3	0	2	0	1	2	4	2	4	3	2	1	3	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55156518C>T	ENST00000257290.5	+	22	3250	c.2919C>T	c.(2917-2919)gaC>gaT	p.D973D	FIP1L1_ENST00000507166.1_Silent_p.D733D	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	973					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGAGTGACCATCCTGCTG	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55156518	C	T	55156518	2	4	364	1	0	0	0	0	0	0	0	1	11737	506	18	2		2	PDGFRA	4	55156518	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	782357	55156518	135997758	3815	27317											
PDGFRA	5156	broad.mit.edu	37	chr4	55161339	55161339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagacgggttccagcagttCcaccttcatcaagagagagg	11	8	12	10	1	2	3	2	1	0	3	4	5	4	3	3	2	1	3	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161339C>T	ENST00000257290.5	+	23	3501	c.3170C>T	c.(3169-3171)tCc>tTc	p.S1057F	FIP1L1_ENST00000507166.1_Missense_Mutation_p.S817F	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1057	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TCCAGCAGTTCCACCTTCATC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55161339	C	T	55161339	3	4	364	1	0	0	0	0	1	0	0	0	11737	855	30	2	3256	2	PDGFRA	4	55161339	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4821	55161339	135992937	3816	27318											
PDGFRA	5156	broad.mit.edu	37	chr4	55161379	55161379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgagaccattgaagacatCgacatgatggatgacatcgg	14	7	12	8	3	0	5	0	3	0	2	2	9	0	6	1	2	0	0	1	2	1	1	rs149498489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55161379C>T	ENST00000257290.5	+	23	3541	c.3210C>T	c.(3208-3210)atC>atT	p.I1070I	FIP1L1_ENST00000507166.1_Silent_p.I830I	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	1070	Ser-rich.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I1070I(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTGAAGACATCGACATGATGG	0.547			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55161379	C	T	55161379	2	4	364	1	0	0	0	0	0	0	0	1	11737	874	31	1		1	PDGFRA	4	55161379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40	55161379	135992897	3817	27319											
KIT	3815	broad.mit.edu	37	chr4	55593703	55593703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcccagaaacaggctgaGttttggtcagtatgaaacag	12	11	11	7	0	1	3	1	2	0	1	2	3	2	3	1	2	2	4	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55593703G>A	ENST00000288135.5	+	11	1866	c.1769G>A	c.(1768-1770)aGt>aAt	p.S590N		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	590	Protein kinase.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.S590N(3)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AACAGGCTGAGTTTTGGTCAG	0.413		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55593703	G	A	55593703	3	1	364	1	0	0	0	0	1	0	0	0	8387	1029	36	2	1811	2	KIT	4	55593703	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432324	55593703	135560573	3818	27320											
KDR	3791	broad.mit.edu	37	chr4	55968162	55968162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctcactctgcggataGtgaggttccggttcccatcc	5	12	9	15	2	2	1	1	1	1	0	6	2	6	2	5	3	1	2	5	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55968162G>A	ENST00000263923.4	-	15	2463	c.2168C>T	c.(2167-2169)aCt>aTt	p.T723I		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	723	Ig-like C2-type 7.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TCTGCGGATAGTGAGGTTCCG	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55968162	G	A	55968162	3	1	364	1	0	0	0	0	1	0	0	0	8197	1029	36	2	1966	2	KDR	4	55968162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	374459	55968162	135186114	3819	27321											
KDR	3791	broad.mit.edu	37	chr4	55976632	55976632	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgggattggtaaggatgAcagtgtaatttcctgtgtct	11	14	12	4	0	1	1	0	1	1	0	2	3	2	3	1	3	0	2	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:55976632A>G	ENST00000263923.4	-	9	1488	c.1193T>C	c.(1192-1194)gTc>gCc	p.V398A		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	398	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.V398A(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GGTAAGGATGACAGTGTAATT	0.418			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G	55976632	A	G	55976632	3	3	364	1	0	0	0	0	1	0	0	0	8197	275	10	3	2965	3	KDR	4	55976632	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8470	55976632	135177644	3820	27322											
TMEM165	55858	broad.mit.edu	37	chr4	56290771	56290771	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgggattggcagtaattGgaggaagaatgatagcacag	14	7	15	5	1	0	2	0	1	0	1	0	5	0	5	0	4	1	4	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56290771G>T	ENST00000381334.5	+	5	1092	c.859G>T	c.(859-861)Gga>Tga	p.G287*	TMEM165_ENST00000542052.1_Nonsense_Mutation_p.G224*|TMEM165_ENST00000506198.1_Nonsense_Mutation_p.G92*|TMEM165_ENST00000514904.1_3'UTR	NM_018475.4	NP_060945.2	Q9HC07	TM165_HUMAN	transmembrane protein 165	287						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4	Lung NSC(11;0.00545)|Glioma(25;0.08)|all_neural(26;0.101)|all_epithelial(27;0.135)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0103)			GGCAGTAATTGGAGGAAGAAT	0.443													T	56290771	G	T	56290771	4	4	364	1	0	0	0	0	0	1	0	0	16180	1349	47	4	877	4	TMEM165	4	56290771	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314139	56290771	134863505	3821	27323											
PDCL2	132954	broad.mit.edu	37	chr4	56428578	56428578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtaacattaccttccagCttgagatttatccctccaca	10	15	4	12	0	0	1	0	1	0	1	3	2	3	1	4	0	3	2	4	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56428578C>T	ENST00000295645.4	-	5	666	c.564G>A	c.(562-564)aaG>aaA	p.K188K		NM_152401.2	NP_689614.2	Q8N4E4	PDCL2_HUMAN	phosducin-like 2	188										endometrium(1)|kidney(1)|lung(4)|ovary(1)	7	Lung NSC(11;0.00256)|Glioma(25;0.08)|all_epithelial(27;0.0863)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.69e-07)|Lung(4;1.03e-06)|Epithelial(7;0.00669)			TACCTTCCAGCTTGAGATTTA	0.323													T	56428578	C	T	56428578	2	4	364	1	0	0	0	0	0	0	0	1	11703	796	28	2		2	PDCL2	4	56428578	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137807	56428578	134725698	3822	27324											
EXOC1	55763	broad.mit.edu	37	chr4	56759926	56759926	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttttggtgactgtcaaaAggaactttgacaaatgcatt	13	14	9	5	0	1	2	1	2	0	0	1	3	1	3	0	2	2	2	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56759926A>T	ENST00000381295.2	+	15	2281	c.1933A>T	c.(1933-1935)Agg>Tgg	p.R645W	EXOC1_ENST00000346134.7_Missense_Mutation_p.R645W|EXOC1_ENST00000349598.6_Missense_Mutation_p.R630W	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	645					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					GACTGTCAAAAGGAACTTTGA	0.333													T	56759926	A	T	56759926	3	4	364	1	0	0	0	0	1	0	0	0	5342	63	3	5	1987	5	EXOC1	4	56759926	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	331348	56759926	134394350	3823	27325											
EXOC1	55763	broad.mit.edu	37	chr4	56770609	56770609	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggtgttacaatggaatTcactattcaggacattctgg	11	14	9	7	0	4	0	2	0	2	0	4	2	4	2	0	4	1	1	0	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56770609T>C	ENST00000381295.2	+	19	2981	c.2633T>C	c.(2632-2634)tTc>tCc	p.F878S	EXOC1_ENST00000346134.7_Missense_Mutation_p.F878S|EXOC1_ENST00000349598.6_Missense_Mutation_p.F863S	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	878					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					ACAATGGAATTCACTATTCAG	0.398													C	56770609	T	C	56770609	3	2	364	1	0	0	0	0	1	0	0	0	5342	1783	62	3	2703	3	EXOC1	4	56770609	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10683	56770609	134383667	3824	27326											
CEP135	9662	broad.mit.edu	37	chr4	56858237	56858237	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcatcagaaaacagaGgtgaactcacttaggtaagt	15	10	8	8	0	4	3	4	1	1	2	5	3	4	3	0	2	2	1	0	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56858237G>T	ENST00000257287.4	+	15	2119	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	665					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					AGAAAACAGAGGTGAACTCAC	0.328													T	56858237	G	T	56858237	3	4	364	1	0	0	0	0	1	0	0	0	3277	991	35	4	2049	4	CEP135	4	56858237	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87628	56858237	134296039	3825	27327											
CEP135	9662	broad.mit.edu	37	chr4	56877583	56877583	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgatttgtaggaaatCtcattggaattggaagcagc	11	15	10	5	0	2	1	1	1	2	0	3	4	2	4	0	3	2	2	0	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877583C>A	ENST00000257287.4	+	20	2635	c.2511C>A	c.(2509-2511)atC>atA	p.I837I		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	837					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TGTAGGAAATCTCATTGGAAT	0.323													A	56877583	C	A	56877583	2	1	364	1	0	0	0	0	0	0	0	1	3277	903	32	4		4	CEP135	4	56877583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19346	56877583	134276693	3826	27328											
CEP135	9662	broad.mit.edu	37	chr4	56877605	56877605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggaattggaagcagcaGtgcaagaaaaagaagaaatg	19	6	12	4	0	0	3	0	0	0	3	0	5	0	5	0	2	3	3	0	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:56877605G>T	ENST00000257287.4	+	20	2657	c.2533G>T	c.(2533-2535)Gtg>Ttg	p.V845L		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	845					centriole replication|centriole-centriole cohesion|G2/M transition of mitotic cell cycle	centriole|cytosol	protein C-terminus binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					GGAAGCAGCAGTGCAAGAAAA	0.308													T	56877605	G	T	56877605	3	4	364	1	0	0	0	0	1	0	0	0	3277	1029	36	4	2607	4	CEP135	4	56877605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	56877605	134276671	3827	27329											
KIAA1211	57482	broad.mit.edu	37	chr4	57181518	57181518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccagatcaaggacaccgCgtgcaagtccctcctgggct	9	6	12	14	2	1	1	1	0	0	1	3	3	3	2	4	2	2	2	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181518C>T	ENST00000504228.1	+	6	1955	c.1850C>T	c.(1849-1851)gCg>gTg	p.A617V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A610V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A617V			Q6ZU35	K1211_HUMAN	KIAA1211	617										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGGACACCGCGTGCAAGTCC	0.701													T	57181518	C	T	57181518	3	4	364	1	0	0	0	0	1	0	0	0	8273	768	27	1	1868	1	KIAA1211	4	57181518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303913	57181518	133972758	3828	27330											
KIAA1211	57482	broad.mit.edu	37	chr4	57181557	57181557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaggagaagaagcacgCggaagccccagctggggaga	12	3	17	9	2	0	3	0	0	0	3	0	7	0	5	2	5	3	2	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57181557C>T	ENST00000504228.1	+	6	1994	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A623V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A630V			Q6ZU35	K1211_HUMAN	KIAA1211	630										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAGAAGCACGCGGAAGCCCCA	0.706													T	57181557	C	T	57181557	3	4	364	1	0	0	0	0	1	0	0	0	8273	768	27	1	1907	1	KIAA1211	4	57181557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	57181557	133972719	3829	27331											
KIAA1211	57482	broad.mit.edu	37	chr4	57182325	57182325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgcagggccgcctgcagCggggagcgctcgtggagaga	7	4	20	10	4	0	1	0	0	0	1	1	5	0	4	2	5	4	3	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182325C>T	ENST00000504228.1	+	6	2762	c.2657C>T	c.(2656-2658)gCg>gTg	p.A886V	KIAA1211_ENST00000541073.1_Missense_Mutation_p.A879V|KIAA1211_ENST00000264229.6_Missense_Mutation_p.A886V			Q6ZU35	K1211_HUMAN	KIAA1211	886										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					CCGCCTGCAGCGGGGAGCGCT	0.617													T	57182325	C	T	57182325	3	4	364	1	0	0	0	0	1	0	0	0	8273	768	27	1	2675	1	KIAA1211	4	57182325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	768	57182325	133971951	3830	27332											
KIAA1211	57482	broad.mit.edu	37	chr4	57182683	57182683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccaagtgagccgtccaaGgaggaccaggagagcagtga	13	3	16	9	1	0	3	0	2	0	1	1	7	1	5	4	3	3	1	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57182683G>T	ENST00000504228.1	+	6	3120	c.3015G>T	c.(3013-3015)aaG>aaT	p.K1005N	KIAA1211_ENST00000541073.1_Missense_Mutation_p.K998N|KIAA1211_ENST00000264229.6_Missense_Mutation_p.K1005N			Q6ZU35	K1211_HUMAN	KIAA1211	1005	Pro-rich.									endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AGCCGTCCAAGGAGGACCAGG	0.652													T	57182683	G	T	57182683	3	4	364	1	0	0	0	0	1	0	0	0	8273	991	35	4	3033	4	KIAA1211	4	57182683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358	57182683	133971593	3831	27333											
AASDH	132949	broad.mit.edu	37	chr4	57215453	57215453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacaataaagtttccacactTagatacacatgctgaggatt	15	11	6	9	0	0	2	0	1	0	1	1	3	1	3	1	1	2	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57215453T>C	ENST00000205214.6	-	11	2644	c.2464A>G	c.(2464-2466)Aag>Gag	p.K822E	AASDH_ENST00000451613.1_Missense_Mutation_p.K822E|AASDH_ENST00000502617.1_Missense_Mutation_p.K822E|AASDH_ENST00000434343.2_Missense_Mutation_p.K337E|AASDH_ENST00000602986.1_Missense_Mutation_p.K669E|AASDH_ENST00000513376.1_Missense_Mutation_p.K722E	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	822					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				TTTCCACACTTAGATACACAT	0.358													C	57215453	T	C	57215453	3	2	364	1	0	0	0	0	1	0	0	0	22	1763	61	3	852	3	AASDH	4	57215453	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32770	57215453	133938823	3832	27334											
AASDH	132949	broad.mit.edu	37	chr4	57220284	57220284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcccaaaaaaaaaatctctCcatctttcacagtcacaaag	17	9	3	12	0	4	0	2	0	2	0	7	0	6	0	2	0	0	0	2	0	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57220284C>A	ENST00000205214.6	-	8	1484	c.1304G>T	c.(1303-1305)gGa>gTa	p.G435V	AASDH_ENST00000451613.1_Missense_Mutation_p.G435V|AASDH_ENST00000502617.1_Missense_Mutation_p.G435V|AASDH_ENST00000434343.2_Intron|AASDH_ENST00000602986.1_Missense_Mutation_p.G282V|AASDH_ENST00000513376.1_Missense_Mutation_p.G335V	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	435					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				AAAAATCTCTCCATCTTTCAC	0.403													A	57220284	C	A	57220284	3	1	364	1	0	0	0	0	1	0	0	0	22	855	30	4	2024	4	AASDH	4	57220284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4831	57220284	133933992	3833	27335											
PPAT	5471	broad.mit.edu	37	chr4	57261676	57261676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccttcttgtacagatgaaaCcagtccttctactgacagat	11	12	6	12	0	2	4	0	2	2	2	3	4	3	4	3	0	3	1	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57261676C>T	ENST00000264220.2	-	11	1533	c.1396G>A	c.(1396-1398)Gtt>Att	p.V466I		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	466					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	ACAGATGAAACCAGTCCTTCT	0.333													T	57261676	C	T	57261676	3	4	364	1	0	0	0	0	1	0	0	0	12379	507	18	2	161	2	PPAT	4	57261676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41392	57261676	133892600	3834	27336											
PPAT	5471	broad.mit.edu	37	chr4	57267048	57267048	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcgctagctgctggccacAacggtatcttactgtataaa	12	11	8	10	2	1	0	0	0	1	0	2	0	1	0	1	2	4	5	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57267048A>C	ENST00000264220.2	-	8	1053	c.916T>G	c.(916-918)Tgt>Ggt	p.C306G		NM_002703.4	NP_002694.3	Q06203	PUR1_HUMAN	phosphoribosyl pyrophosphate amidotransferase	306					glutamine metabolic process|nucleoside metabolic process|purine base biosynthetic process|purine ribonucleoside monophosphate biosynthetic process	cytosol	4 iron, 4 sulfur cluster binding|amidophosphoribosyltransferase activity|metal ion binding			cervix(1)|endometrium(2)|large_intestine(6)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	20	Glioma(25;0.08)|all_neural(26;0.101)				L-Glutamine(DB00130)|Thioguanine(DB00352)	TGCTGGCCACAACGGTATCTT	0.423													C	57267048	A	C	57267048	3	2	364	1	0	0	0	0	1	0	0	0	12379	130	5	5	653	5	PPAT	4	57267048	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5372	57267048	133887228	3835	27337											
PAICS	10606	broad.mit.edu	37	chr4	57325593	57325593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcaatttgctgctcaGatatttgggttaagcaacca	11	13	8	9	0	3	1	3	0	0	1	3	1	3	1	1	1	5	5	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57325593G>T	ENST00000514888.1	+	10	1406	c.891G>T	c.(889-891)caG>caT	p.Q297H	PAICS_ENST00000264221.2_Missense_Mutation_p.Q389H|PAICS_ENST00000512576.1_Missense_Mutation_p.Q389H|PAICS_ENST00000399688.3_Missense_Mutation_p.Q396H			P22234	PUR6_HUMAN	phosphoribosylaminoimidazole carboxylase, phosphoribosylaminoimidazole succinocarboxamide synthetase	389	AIR carboxylase.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|identical protein binding|phosphoribosylaminoimidazole carboxylase activity|phosphoribosylaminoimidazolesuccinocarboxamide synthase activity			endometrium(1)|kidney(2)|large_intestine(1)|urinary_tract(1)	5	Glioma(25;0.08)|all_neural(26;0.101)				L-Aspartic Acid(DB00128)	TTGCTGCTCAGATATTTGGGT	0.413													T	57325593	G	T	57325593	3	4	364	1	0	0	0	0	1	0	0	0	11471	933	33	4	1226	4	PAICS	4	57325593	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58545	57325593	133828683	3836	27338											
SRP72	6731	broad.mit.edu	37	chr4	57340537	57340537	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagctgaaccaggccatgaAaatcctacaaaaagctgaag	17	5	8	11	0	0	3	0	3	0	0	1	3	1	3	4	1	4	2	4	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57340537A>G	ENST00000342756.5	+	5	1311	c.590A>G	c.(589-591)aAa>aGa	p.K197R	SRP72_ENST00000504757.1_Missense_Mutation_p.K197R|SRP72_ENST00000510663.1_Missense_Mutation_p.K197R	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	197					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CAGGCCATGAAAATCCTACAA	0.428													G	57340537	A	G	57340537	3	3	364	1	0	0	0	0	1	0	0	0	15253	14	1	3	608	3	SRP72	4	57340537	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14944	57340537	133813739	3837	27339											
SRP72	6731	broad.mit.edu	37	chr4	57344544	57344544	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacatttctttctcttaGgatgggactgaggaagaccc	13	11	9	8	0	2	2	0	1	2	1	3	5	2	5	1	3	1	0	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57344544G>T	ENST00000342756.5	+	7	1363		c.e7-1		SRP72_ENST00000510663.1_Intron	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa						response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					CTTTCTCTTAGGATGGGACTG	0.413													T	57344544	G	T	57344544	5	4	364	1	0	0	0	0	0	0	1	0	15253	1014	35	4	668	4	SRP72	4	57344544	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4007	57344544	133809732	3838	27340											
REST	5978	broad.mit.edu	37	chr4	57797637	57797637	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccactgccaaaggaaaaTttaagagaagaggcatcagg	17	5	10	9	0	1	2	1	0	0	2	1	4	1	3	3	3	1	1	3	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797637T>G	ENST00000309042.7	+	4	2927	c.2613T>G	c.(2611-2613)aaT>aaG	p.N871K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	871					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CAAAGGAAAATTTAAGAGAAG	0.438													G	57797637	T	G	57797637	3	3	364	1	0	0	0	0	1	0	0	0	13322	1490	52	5	2623	5	REST	4	57797637	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	453093	57797637	133356639	3839	27341											
REST	5978	broad.mit.edu	37	chr4	57797968	57797968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccttcagcagtagaagaaCgtgaagcagtgtccaaaact	14	7	9	11	1	1	3	1	1	0	2	2	3	2	3	3	0	4	3	3	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57797968C>T	ENST00000309042.7	+	4	3258	c.2944C>T	c.(2944-2946)Cgt>Tgt	p.R982C		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	982					cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AGTAGAAGAACGTGAAGCAGT	0.448													T	57797968	C	T	57797968	3	4	364	1	0	0	0	0	1	0	0	0	13322	536	19	1	2954	1	REST	4	57797968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	331	57797968	133356308	3840	27342											
POLR2B	5431	broad.mit.edu	37	chr4	57887151	57887151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgttcagctgtagaccgcGgcttcttcaggttagtattt	7	15	10	9	3	3	1	2	0	1	1	4	1	3	1	1	2	1	6	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:57887151G>A	ENST00000381227.1	+	18	2823	c.2410G>A	c.(2410-2412)Ggc>Agc	p.G804S	POLR2B_ENST00000314595.5_Missense_Mutation_p.G804S|POLR2B_ENST00000431623.2_Missense_Mutation_p.G729S|POLR2B_ENST00000441246.2_Missense_Mutation_p.G797S			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	804					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	p.G804S(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TGTAGACCGCGGCTTCTTCAG	0.348													A	57887151	G	A	57887151	3	1	364	1	0	0	0	0	1	0	0	0	12292	1116	39	1	2476	1	POLR2B	4	57887151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89183	57887151	133267125	3841	27343											
LPHN3	23284	broad.mit.edu	37	chr4	62758588	62758588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcccagctctcgaagagagCtgtgaggctgtggaagcccg	9	7	14	11	2	1	2	0	1	1	1	3	5	2	3	2	2	3	3	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62758588C>T	ENST00000512091.2	+	9	2238	c.1491C>T	c.(1489-1491)agC>agT	p.S497S	LPHN3_ENST00000506720.1_Silent_p.S565S|LPHN3_ENST00000507625.1_Silent_p.S565S|LPHN3_ENST00000508693.1_Silent_p.S565S|LPHN3_ENST00000514157.1_Silent_p.S497S|LPHN3_ENST00000506746.1_Silent_p.S565S|LPHN3_ENST00000504896.1_Silent_p.S497S|LPHN3_ENST00000514591.1_Silent_p.S497S|LPHN3_ENST00000514996.1_Silent_p.S497S|LPHN3_ENST00000511324.1_Silent_p.S565S|LPHN3_ENST00000507164.1_Silent_p.S565S|LPHN3_ENST00000545650.1_Silent_p.S497S|LPHN3_ENST00000508946.1_Silent_p.S497S|LPHN3_ENST00000506700.1_Silent_p.S497S|LPHN3_ENST00000509896.1_Silent_p.S565S			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCGAAGAGAGCTGTGAGGCTG	0.517													T	62758588	C	T	62758588	2	4	364	1	0	0	0	0	0	0	0	1	8987	796	28	2		2	LPHN3	4	62758588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4871437	62758588	128395688	3842	27344											
LPHN3	23284	broad.mit.edu	37	chr4	62845404	62845404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggggctccagagtgacCgtaacaccatccacaagaac	12	5	10	14	2	0	3	0	1	0	2	3	3	3	3	5	2	2	2	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:62845404C>T	ENST00000512091.2	+	17	3472	c.2725C>T	c.(2725-2727)Cgt>Tgt	p.R909C	LPHN3_ENST00000506720.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507625.1_Missense_Mutation_p.R977C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R977C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R977C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R909C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R909C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R977C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R977C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R909C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R909C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R909C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R977C			Q9HAR2	LPHN3_HUMAN	latrophilin 3						neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CCAGAGTGACCGTAACACCAT	0.483													T	62845404	C	T	62845404	3	4	364	1	0	0	0	0	1	0	0	0	8987	652	23	1	2783	1	LPHN3	4	62845404	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86816	62845404	128308872	3843	27345											
EPHA5	2044	broad.mit.edu	37	chr4	66201670	66201670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatgcattaaccagCgtcttcagactacttgggtt	9	12	10	10	1	2	1	1	0	1	1	2	2	2	2	1	2	5	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:66201670C>T	ENST00000273854.3	-	16	3432	c.2832G>A	c.(2830-2832)acG>acA	p.T944T	EPHA5_ENST00000511294.1_Silent_p.T945T|EPHA5_ENST00000354839.4_Silent_p.T922T|EPHA5_ENST00000432638.2_Silent_p.T781T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	944					cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CATTAACCAGCGTCTTCAGAC	0.413										TSP Lung(17;0.13)			T	66201670	C	T	66201670	2	4	364	1	0	0	0	0	0	0	0	1	5211	755	27	1		1	EPHA5	4	66201670	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3356266	66201670	124952606	3844	27346											
STAP1	26228	broad.mit.edu	37	chr4	68436816	68436816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaggagtatgagcattaCtggacagagttgagaggaac	14	7	13	7	0	0	3	0	2	0	2	0	7	0	6	1	3	3	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68436816C>T	ENST00000265404.2	+	2	217	c.135C>T	c.(133-135)taC>taT	p.Y45Y	STAP1_ENST00000396225.1_Silent_p.Y45Y	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	45	PH.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						ATGAGCATTACTGGACAGAGT	0.294													T	68436816	C	T	68436816	2	4	364	1	0	0	0	0	0	0	0	1	15348	576	20	2		2	STAP1	4	68436816	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2235146	68436816	122717460	3845	27347											
UBA6	55236	broad.mit.edu	37	chr4	68543398	68543398	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatgatgtgacatgaacGtatggatttagttctgcaat	13	13	11	4	1	1	4	0	3	1	1	1	6	1	5	0	1	2	3	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68543398G>A	ENST00000322244.5	-	6	455	c.396C>T	c.(394-396)taC>taT	p.Y132Y	UBA6_ENST00000420827.2_Silent_p.Y132Y	NM_018227.5	NP_060697.4	A0AVT1	UBA6_HUMAN	ubiquitin-like modifier activating enzyme 6						protein ubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm	ATP binding|FAT10 activating enzyme activity|ligase activity|protein binding	p.Y132*(1)		central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(6)|liver(1)|lung(23)|skin(2)|upper_aerodigestive_tract(2)	44						TGACATGAACGTATGGATTTA	0.294													A	68543398	G	A	68543398	2	1	364	1	0	0	0	0	0	0	0	1	16934	1140	40	1		1	UBA6	4	68543398	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106582	68543398	122610878	3846	27348											
GNRHR	2798	broad.mit.edu	37	chr4	68619905	68619905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaagaagcattaaaggtcGcagagagcagaaaaaggaag	21	3	13	4	1	0	4	0	0	0	4	1	6	0	5	0	2	2	3	0	2	7	1	rs150422225		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:68619905G>A	ENST00000226413.4	-	1	173	c.149C>T	c.(148-150)gCg>gTg	p.A50V	UBA6-AS1_ENST00000502758.1_RNA|UBA6-AS1_ENST00000500538.2_RNA|GNRHR_ENST00000420975.2_Missense_Mutation_p.A50V	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	50					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	ATTAAAGGTCGCAGAGAGCAG	0.443													A	68619905	G	A	68619905	3	1	364	1	0	0	0	0	1	0	0	0	6605	1087	38	1	849	1	GNRHR	4	68619905	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76507	68619905	122534371	3847	27349											
UGT2B15	7366	broad.mit.edu	37	chr4	69535723	69535723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccatgaaaatcattTgatcacttaattctgacata	13	15	3	10	0	4	3	2	3	2	0	6	3	5	3	2	0	0	0	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69535723T>C	ENST00000338206.5	-	1	623	c.614A>G	c.(613-615)cAa>cGa	p.Q205R		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	205					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										GAAAATCATTTGATCACTTAA	0.343													C	69535723	T	C	69535723	3	2	364	1	0	0	0	0	1	0	0	0	17060	1812	63	3	2619	3	UGT2B15	4	69535723	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	915818	69535723	121618553	3848	27350											
UGT2B10	7365	broad.mit.edu	37	chr4	69682430	69682430	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atatttaatatgaagaagtgGgatcagttttacagtgaagt	15	14	10	2	0	1	3	1	2	0	1	1	4	1	4	0	1	1	1	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69682430G>T	ENST00000265403.7	+	1	720	c.693G>T	c.(691-693)tgG>tgT	p.W231C	UGT2B10_ENST00000458688.2_Intron	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	231					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						TGAAGAAGTGGGATCAGTTTT	0.303													T	69682430	G	T	69682430	3	4	364	1	0	0	0	0	1	0	0	0	17058	1241	43	4	695	4	UGT2B10	4	69682430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146707	69682430	121471846	3849	27351											
UGT2A3	79799	broad.mit.edu	37	chr4	69795536	69795536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaatttggaaagatctattCcctcttttctatctttctag	9	19	5	8	0	5	2	0	1	5	1	6	3	6	3	1	1	0	0	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69795536C>T	ENST00000251566.4	-	6	1609	c.1579G>A	c.(1579-1581)Gaa>Aaa	p.E527K	UGT2A3_ENST00000420231.2_Missense_Mutation_p.E238K	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	527						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGATCTATTCCCTCTTTTCT	0.333													T	69795536	C	T	69795536	3	4	364	1	0	0	0	0	1	0	0	0	17057	864	30	2	8	2	UGT2A3	4	69795536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113106	69795536	121358740	3850	27352											
UGT2A3	79799	broad.mit.edu	37	chr4	69796420	69796420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccatagggaccccatggTaaatagcttcatagatccca	13	8	7	13	0	1	1	1	0	0	1	2	2	2	2	5	2	1	2	5	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:69796420T>C	ENST00000251566.4	-	5	1178	c.1148A>G	c.(1147-1149)tAc>tGc	p.Y383C	UGT2A3_ENST00000420231.2_Missense_Mutation_p.Y94C	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	383						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GACCCCATGGTAAATAGCTTC	0.398													C	69796420	T	C	69796420	3	2	364	1	0	0	0	0	1	0	0	0	17057	1638	57	3	443	3	UGT2A3	4	69796420	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	884	69796420	121357856	3851	27353											
UGT2B4	7363	broad.mit.edu	37	chr4	70361049	70361049	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgcttttcaattgcgtaGccaggagagaagcggaggct	10	10	13	8	2	1	1	1	0	0	1	1	4	1	3	1	3	4	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361049G>A	ENST00000305107.6	-	1	577	c.531C>T	c.(529-531)ggC>ggT	p.G177G	UGT2B4_ENST00000512583.1_Silent_p.G177G|UGT2B4_ENST00000506580.1_Intron|UGT2B4_ENST00000381096.3_Silent_p.G41G	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	177					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAATTGCGTAGCCAGGAGAGA	0.458													A	70361049	G	A	70361049	2	1	364	1	0	0	0	0	0	0	0	1	17063	958	34	2		2	UGT2B4	4	70361049	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	564629	70361049	120793227	3852	27354											
UGT2B4	7363	broad.mit.edu	37	chr4	70361517	70361517	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accagcacctttccacaactCccagagctaaagtaacagct	14	7	5	15	0	0	1	0	0	0	1	2	1	2	1	4	0	5	4	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70361517C>T	ENST00000305107.6	-	1	109	c.63G>A	c.(61-63)ggG>ggA	p.G21G	UGT2B4_ENST00000512583.1_Silent_p.G21G|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000381096.3_Intron	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	21					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						TTCCACAACTCCCAGAGCTAA	0.468													T	70361517	C	T	70361517	2	4	364	1	0	0	0	0	0	0	0	1	17063	842	30	2		2	UGT2B4	4	70361517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	468	70361517	120792759	3853	27355											
UGT2A1	10941	broad.mit.edu	37	chr4	70460361	70460361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactccgtggtaaatagcttCgtagatcccattagttccac	10	12	8	11	2	0	1	0	0	0	1	4	2	3	1	3	1	1	4	3	1	5	6	rs148464836	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70460361C>T	ENST00000503640.1	-	5	1193	c.1138G>A	c.(1138-1140)Gaa>Aaa	p.E380K	UGT2A1_ENST00000286604.4_Missense_Mutation_p.E380K|UGT2A2_ENST00000457664.2_Missense_Mutation_p.E389K|UGT2A1_ENST00000512704.1_Missense_Mutation_p.E336K|UGT2A1_ENST00000514019.1_Missense_Mutation_p.E546K|UGT2A1_ENST00000502343.1_5'UTR	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	380					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TAAATAGCTTCGTAGATCCCA	0.443													T	70460361	C	T	70460361	3	4	364	1	0	0	0	0	1	0	0	0	17055	893	31	1	453	1	UGT2A1	4	70460361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98844	70460361	120693915	3854	27356											
UGT2A1	10941	broad.mit.edu	37	chr4	70512749	70512749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttattctgtcagtgaaaGacatttggtcggtgagttct	8	17	10	6	1	4	3	1	2	3	1	5	3	4	3	0	2	0	1	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512749G>T	ENST00000503640.1	-	1	669	c.614C>A	c.(613-615)tCt>tAt	p.S205Y	UGT2A1_ENST00000286604.4_Missense_Mutation_p.S205Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.S205Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.S205Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	205					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTCAGTGAAAGACATTTGGTC	0.408													T	70512749	G	T	70512749	3	4	364	1	0	0	0	0	1	0	0	0	17055	942	33	4	993	4	UGT2A1	4	70512749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52388	70512749	120641527	3855	27357											
UGT2A1	10941	broad.mit.edu	37	chr4	70512785	70512785	+	Missense_Mutation	SNP	A	A	G																															gttctgataaaacagcaggaAcataggaaggagggtatggt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512785A>G	ENST00000503640.1	-	1	633	c.578T>C	c.(577-579)gTt>gCt	p.V193A	UGT2A1_ENST00000286604.4_Missense_Mutation_p.V193A|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V193A|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V193A	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	193					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						AACAGCAGGAACATAGGAAGG	0.413													G	70512785	A	G	70512785	3	3	364	1	0	0	0	0	1	0	0	0	17055	43	2	3	1029	3	UGT2A1	4	70512785	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36	70512785	120641491	3856	27358	60	2									
UGT2A1	10941	broad.mit.edu	37	chr4	70512793	70512793	+	Silent	SNP	A	A	C																															aaaacagcaggaacataggaAggagggtatggtaccttccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70512793A>C	ENST00000503640.1	-	1	625	c.570T>G	c.(568-570)ccT>ccG	p.P190P	UGT2A1_ENST00000286604.4_Silent_p.P190P|UGT2A1_ENST00000512704.1_Silent_p.P190P|UGT2A1_ENST00000514019.1_Silent_p.P190P	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	190					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GAACATAGGAAGGAGGGTATG	0.408													C	70512793	A	C	70512793	2	2	364	1	0	0	0	0	0	0	0	1	17055	59	3	5		5	UGT2A1	4	70512793	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8	70512793	120641483	3857	27359	60	2									
SULT1B1	27284	broad.mit.edu	37	chr4	70596338	70596338	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggatgatcctatccaagAtctcatcattcaggttcttc	10	14	7	10	0	4	2	3	1	2	1	8	4	6	3	2	2	0	1	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70596338A>C	ENST00000310613.3	-	7	956	c.659T>G	c.(658-660)aTc>aGc	p.I220S		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCTATCCAAGATCTCATCATT	0.358													C	70596338	A	C	70596338	3	2	364	1	0	0	0	0	1	0	0	0	15472	333	12	5	239	5	SULT1B1	4	70596338	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	83545	70596338	120557938	3858	27360											
SULT1B1	27284	broad.mit.edu	37	chr4	70599226	70599226	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaggaaccataggccaCtaaaaccagataaaagtcta	20	5	6	10	0	1	1	0	0	1	1	1	2	1	2	4	2	3	0	4	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70599226C>A	ENST00000310613.3	-	6	800		c.e6-1			NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCATAGGCCACTAAAACCAGA	0.289													A	70599226	C	A	70599226	5	1	364	1	0	0	0	0	0	0	1	0	15472	579	20	4	400	4	SULT1B1	4	70599226	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2888	70599226	120555050	3859	27361											
CSN1S1	1446	broad.mit.edu	37	chr4	70810694	70810695	+	Frame_Shift_Ins	INS	-	-	A																															cactgctcatgaaaattatgINSaaaaaaataacgtcatgcta																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:70810694_70810695insA	ENST00000246891.4	+	15	578_579	c.529_530insA	c.(529-531)gaafs	p.E177fs	CSN1S1_ENST00000507763.1_Frame_Shift_Ins_p.E168fs|CSN1S1_ENST00000507772.1_Frame_Shift_Ins_p.E169fs|CSN1S1_ENST00000505782.1_Frame_Shift_Ins_p.E161fs|CSN1S1_ENST00000444405.3_Frame_Shift_Ins_p.E168fs	NM_001890.1	NP_001881.1	P47710	CASA1_HUMAN	casein alpha s1	177						extracellular region	protein binding|transporter activity			lung(5)|prostate(1)|upper_aerodigestive_tract(1)	7						TGAAAATTATGAAAAAAATAAC	0.391													A	70810695	-	A	70810694	7	5	364	1	0	1	1	0	0	0	0	0	3980	1291	45	0	583	0	CSN1S1	4	70810694	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	211468	70810694	120343582	3860	27362											
CSN3	1448	broad.mit.edu	37	chr4	71110547	71110547	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgcaataatgaagagttTtcttctagttgtcaatgccc	11	14	9	7	0	3	2	1	1	2	1	3	2	3	2	1	1	2	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71110547T>A	ENST00000304954.3	+	2	97	c.11T>A	c.(10-12)tTt>tAt	p.F4Y		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	4						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						ATGAAGAGTTTTCTTCTAGTT	0.284													A	71110547	T	A	71110547	3	1	364	1	0	0	0	0	1	0	0	0	3982	1841	64	5	13	5	CSN3	4	71110547	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	299853	71110547	120043729	3861	27363											
MUC7	4589	broad.mit.edu	37	chr4	71339760	71339760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactctgccgctgtttGtgtgcatctgtgcactgagt	7	14	11	9	1	2	2	0	2	2	0	2	2	2	2	1	0	4	4	1	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71339760G>A	ENST00000413702.1	+	3	310	c.22G>A	c.(22-24)Gtg>Atg	p.V8M	MUC7_ENST00000514512.1_Intron|MUC7_ENST00000456088.1_Missense_Mutation_p.V8M|MUC7_ENST00000304887.5_Missense_Mutation_p.V8M	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	8						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			GCCGCTGTTTGTGTGCATCTG	0.398													A	71339760	G	A	71339760	3	1	364	1	0	0	0	0	1	0	0	0	10057	1377	48	2	24	2	MUC7	4	71339760	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	229213	71339760	119814516	3862	27364											
ENAM	10117	broad.mit.edu	37	chr4	71500102	71500102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgcccatgtggcctcaGccaccacccaacacatggca	11	5	8	17	0	1	1	1	0	0	1	1	1	1	1	5	2	3	1	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71500102G>A	ENST00000396073.3	+	6	569	c.288G>A	c.(286-288)caG>caA	p.Q96Q		NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	96					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TGTGGCCTCAGCCACCACCCA	0.512													A	71500102	G	A	71500102	2	1	364	1	0	0	0	0	0	0	0	1	5153	962	34	2		2	ENAM	4	71500102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160342	71500102	119654174	3863	27365											
ENAM	10117	broad.mit.edu	37	chr4	71507838	71507838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacccaaagaagaagatcCtcctaaagcagaaagtccag	20	4	7	10	0	0	4	0	0	0	4	3	4	3	4	4	0	2	1	4	0	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71507838C>T	ENST00000396073.3	+	9	976	c.695C>T	c.(694-696)cCt>cTt	p.P232L	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	232					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAAGAAGATCCTCCTAAAGCA	0.413													T	71507838	C	T	71507838	3	4	364	1	0	0	0	0	1	0	0	0	5153	681	24	2	725	2	ENAM	4	71507838	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7736	71507838	119646438	3864	27366											
RUFY3	22902	broad.mit.edu	37	chr4	71650590	71650590	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaagaagagacacaattAcgattggtaaactatgctta	18	11	7	5	1	0	2	0	0	0	2	0	4	0	2	0	1	3	2	0	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:71650590A>G	ENST00000226328.4	+	10	1628	c.1065A>G	c.(1063-1065)ttA>ttG	p.L355L	RUFY3_ENST00000536664.1_Silent_p.L339L|RUFY3_ENST00000502653.1_Silent_p.L302L|RUFY3_ENST00000381006.3_Silent_p.L355L|RUFY3_ENST00000417478.2_Silent_p.L415L	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	355					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			AGACACAATTACGATTGGTAA	0.348													G	71650590	A	G	71650590	2	3	364	1	0	0	0	0	0	0	0	1	13831	388	14	3		3	RUFY3	4	71650590	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142752	71650590	119503686	3865	27367											
SLC4A4	8671	broad.mit.edu	37	chr4	72332189	72332189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagtttcctgggcactgCtgtctctggagccatctttt	5	14	12	10	0	2	1	0	0	2	1	4	3	3	2	2	3	2	3	2	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72332189C>T	ENST00000340595.3	+	10	1590	c.1394C>T	c.(1393-1395)gCt>gTt	p.A465V	SLC4A4_ENST00000264485.5_Missense_Mutation_p.A509V|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.A465V|SLC4A4_ENST00000425175.1_Missense_Mutation_p.A509V|SLC4A4_ENST00000351898.6_Missense_Mutation_p.A509V	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	509						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CTGGGCACTGCTGTCTCTGGA	0.408													T	72332189	C	T	72332189	3	4	364	1	0	0	0	0	1	0	0	0	14750	797	28	2	1693	2	SLC4A4	4	72332189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	681599	72332189	118822087	3866	27368											
SLC4A4	8671	broad.mit.edu	37	chr4	72338462	72338462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcctttggattggcctgTggtccgccttcctatgtctc	2	16	10	13	2	1	0	0	0	1	0	5	1	3	1	5	3	0	0	5	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338462T>C	ENST00000340595.3	+	11	1742	c.1546T>C	c.(1546-1548)Tgg>Cgg	p.W516R	SLC4A4_ENST00000264485.5_Missense_Mutation_p.W560R|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.W516R|SLC4A4_ENST00000425175.1_Missense_Mutation_p.W560R|SLC4A4_ENST00000351898.6_Missense_Mutation_p.W560R	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	560						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GATTGGCCTGTGGTCCGCCTT	0.428													C	72338462	T	C	72338462	3	2	364	1	0	0	0	0	1	0	0	0	14750	1696	59	3	1849	3	SLC4A4	4	72338462	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6273	72338462	118815814	3867	27369											
SLC4A4	8671	broad.mit.edu	37	chr4	72338541	72338541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacacgtttcacggaggAgggcttttcctctctgatta	7	14	9	11	2	3	1	2	1	1	0	5	3	4	3	1	3	0	2	1	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338541A>G	ENST00000340595.3	+	11	1821	c.1625A>G	c.(1624-1626)gAg>gGg	p.E542G	SLC4A4_ENST00000264485.5_Missense_Mutation_p.E586G|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000512686.1_Missense_Mutation_p.E542G|SLC4A4_ENST00000425175.1_Missense_Mutation_p.E586G|SLC4A4_ENST00000351898.6_Missense_Mutation_p.E586G	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	586						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			TTCACGGAGGAGGGCTTTTCC	0.448													G	72338541	A	G	72338541	3	3	364	1	0	0	0	0	1	0	0	0	14750	304	11	3	1928	3	SLC4A4	4	72338541	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	79	72338541	118815735	3868	27370											
SLC4A4	8671	broad.mit.edu	37	chr4	72338701	72338701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccaggtgagggcattacGctttgtgtttatgctcgctt	6	14	12	9	2	0	1	0	1	0	0	1	2	0	1	1	2	2	5	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72338701G>A	ENST00000512686.1	+	11	1981	c.1785G>A	c.(1783-1785)acG>acA	p.T595T	SLC4A4_ENST00000340595.3_Intron|SLC4A4_ENST00000264485.5_Intron|SLC4A4_ENST00000514331.1_3'UTR|SLC4A4_ENST00000425175.1_Intron|SLC4A4_ENST00000351898.6_Intron			Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	0						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			AGGGCATTACGCTTTGTGTTT	0.458													A	72338701	G	A	72338701	2	1	364	1	0	0	0	0	0	0	0	1	14750	1102	38	1		1	SLC4A4	4	72338701	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160	72338701	118815575	3869	27371											
SLC4A4	8671	broad.mit.edu	37	chr4	72400101	72400101	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggaaagaacataaacTcaaggtaagtgtccataata	21	7	7	6	0	1	1	1	0	0	1	2	2	2	2	1	2	3	1	1	2	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72400101T>C	ENST00000340595.3	+	15	2502	c.2306T>C	c.(2305-2307)cTc>cCc	p.L769P	SLC4A4_ENST00000264485.5_Missense_Mutation_p.L813P|SLC4A4_ENST00000425175.1_Missense_Mutation_p.L813P|SLC4A4_ENST00000351898.6_Missense_Mutation_p.L813P	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	813	Interaction with CA4.					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			GAACATAAACTCAAGGTAAGT	0.383													C	72400101	T	C	72400101	3	2	364	1	0	0	0	0	1	0	0	0	14750	1551	54	3	2625	3	SLC4A4	4	72400101	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61400	72400101	118754175	3870	27372											
SLC4A4	8671	broad.mit.edu	37	chr4	72412185	72412185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccattgctcacatcgacaGtttgaagatggagacagaga	13	9	10	9	1	1	4	1	1	0	3	3	7	2	4	1	1	1	2	1	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72412185G>A	ENST00000340595.3	+	16	2625	c.2429G>A	c.(2428-2430)aGt>aAt	p.S810N	SLC4A4_ENST00000264485.5_Missense_Mutation_p.S854N|SLC4A4_ENST00000425175.1_Missense_Mutation_p.S854N|SLC4A4_ENST00000351898.6_Intron	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	854						basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)			CACATCGACAGTTTGAAGATG	0.478													A	72412185	G	A	72412185	3	1	364	1	0	0	0	0	1	0	0	0	14750	1029	36	2	2752	2	SLC4A4	4	72412185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12084	72412185	118742091	3871	27373											
GC	2638	broad.mit.edu	37	chr4	72631303	72631303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcactcagcagtgcCtgggtgaacggggaatggag	9	6	18	8	1	1	1	1	1	0	0	1	3	1	3	1	5	5	3	1	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72631303C>A	ENST00000273951.8	-	4	662	c.319G>T	c.(319-321)Ggc>Tgc	p.G107C	GC_ENST00000513476.1_Missense_Mutation_p.G107C|GC_ENST00000504199.1_Missense_Mutation_p.G126C|GC_ENST00000503472.1_Splice_Site	NM_000583.3|NM_001204306.1	NP_000574.2|NP_001191235.1	P02774	VTDB_HUMAN	group-specific component (vitamin D binding protein)	107	Albumin 1.				hormone biosynthetic process|vitamin D metabolic process	cytosol|lysosomal lumen	actin binding|vitamin D binding|vitamin transporter activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	45		all_hematologic(202;0.107)	Lung(101;0.148)		Cholecalciferol(DB00169)	TCAGCAGTGCCTGGGTGAACG	0.498													A	72631303	C	A	72631303	3	1	364	1	0	0	0	0	1	0	0	0	6336	681	24	4	1141	4	GC	4	72631303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219118	72631303	118522973	3872	27374											
NPFFR2	10886	broad.mit.edu	37	chr4	72897732	72897732	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcactcagcgtccagcaGcgcggcgggccagcctggag	8	3	16	14	4	1	1	1	0	0	1	2	2	2	2	3	3	5	2	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:72897732G>A	ENST00000308744.6	+	1	212	c.114G>A	c.(112-114)caG>caA	p.Q38Q	NPFFR2_ENST00000344413.5_Silent_p.Q38Q	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	38					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			GCGTCCAGCAGCGCGGCGGGC	0.677													A	72897732	G	A	72897732	2	1	364	1	0	0	0	0	0	0	0	1	10654	962	34	2		2	NPFFR2	4	72897732	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266429	72897732	118256544	3873	27375											
ADAMTS3	9508	broad.mit.edu	37	chr4	73149302	73149302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaaggtatggtggtggcaGggtgctactgcgcttgctgc	6	11	17	7	1	0	1	0	0	0	1	0	1	0	1	0	5	5	5	0	5	4	4	rs113342288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73149302G>A	ENST00000286657.4	-	22	3205	c.3169C>T	c.(3169-3171)Ctg>Ttg	p.L1057L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1057					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GGTGGTGGCAGGGTGCTACTG	0.463													A	73149302	G	A	73149302	2	1	364	1	0	0	0	0	0	0	0	1	267	991	35	2		2	ADAMTS3	4	73149302	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251570	73149302	118004974	3874	27376											
ADAMTS3	9508	broad.mit.edu	37	chr4	73179425	73179425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcactggcgtgttctgaaacGaacaccagttccacatgtcc	10	9	9	13	2	1	1	0	1	1	0	3	2	3	1	3	1	2	3	3	1	2	2	rs150168072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73179425G>A	ENST00000286657.4	-	12	1750	c.1714C>T	c.(1714-1716)Cgt>Tgt	p.R572C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	572	TSP type-1 1.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTCTGAAACGAACACCAGTT	0.393													A	73179425	G	A	73179425	3	1	364	1	0	0	0	0	1	0	0	0	267	1058	37	1	1947	1	ADAMTS3	4	73179425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30123	73179425	117974851	3875	27377											
COX18	285521	broad.mit.edu	37	chr4	73931073	73931073	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggctttgaaagggtggcaGttatctcgcacatatagctc	9	12	12	8	1	1	1	0	1	1	0	3	1	1	1	0	3	1	5	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73931073G>A	ENST00000295890.4	-	3	583	c.492C>T	c.(490-492)aaC>aaT	p.N164N	COX18_ENST00000507544.2_Silent_p.N164N	NM_173827.2	NP_776188.1	Q8N8Q8	COX18_HUMAN	COX18 cytochrome C oxidase assembly factor	164					protein insertion into mitochondrial membrane|respiratory chain complex IV assembly	integral to mitochondrial inner membrane	protein transporter activity			large_intestine(4)|lung(2)	6	Breast(15;0.00096)		Epithelial(6;1.26e-06)|OV - Ovarian serous cystadenocarcinoma(6;9.45e-06)|all cancers(17;2.05e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAGGGTGGCAGTTATCTCGCA	0.438													A	73931073	G	A	73931073	2	1	364	1	0	0	0	0	0	0	0	1	3798	1020	36	2		2	COX18	4	73931073	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	751648	73931073	117223203	3876	27378											
ANKRD17	26057	broad.mit.edu	37	chr4	73964217	73964217	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtggcacttggaggttCtgtcaagacttcaggctcat	7	13	13	8	0	4	1	3	0	1	1	4	2	4	2	0	5	0	4	0	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:73964217C>A	ENST00000358602.4	-	26	4710	c.4594G>T	c.(4594-4596)Gaa>Taa	p.E1532*	ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.E1281*|ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.E1419*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1532					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTTGGAGGTTCTGTCAAGACT	0.383													A	73964217	C	A	73964217	4	1	364	1	0	0	0	0	0	1	0	0	646	922	32	4	3253	4	ANKRD17	4	73964217	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33144	73964217	117190059	3877	27379											
ALB	213	broad.mit.edu	37	chr4	74284028	74284028	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacaaatcaagaaacaaaCgtgaggagtatttcattact	18	9	8	6	1	2	3	2	1	0	2	2	5	2	4	0	1	3	1	0	1	6	3	rs149079814	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74284028C>T	ENST00000295897.4	+	12	1741	c.1652C>T	c.(1651-1653)aCt>aTt	p.T551I	ALB_ENST00000505649.1_3'UTR|ALB_ENST00000401494.3_Splice_Site_p.T436I|ALB_ENST00000415165.2_Splice_Site_p.T359I|ALB_ENST00000509063.1_Splice_Site_p.T551I|ALB_ENST00000503124.1_Splice_Site_p.T401I	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	551	Albumin 3.			T -> A (in Ref. 11; CAH18185).	bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	AAGAAACAAACGTGAGGAGTA	0.358													T	74284028	C	T	74284028	5	4	364	1	0	0	0	0	0	0	1	0	486	550	19	1	1698	1	ALB	4	74284028	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319811	74284028	116870248	3878	27380											
AFM	173	broad.mit.edu	37	chr4	74351700	74351700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctataacaagaaatCtgatgtgggatttctgcctc	10	16	7	8	0	4	2	0	1	4	1	5	3	4	3	1	1	2	0	1	1	4	5	rs149614377		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:74351700C>A	ENST00000226355.3	+	4	485	c.392C>A	c.(391-393)tCt>tAt	p.S131Y		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	131	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AACAAGAAATCTGATGTGGGA	0.413													A	74351700	C	A	74351700	3	1	364	1	0	0	0	0	1	0	0	0	361	913	32	4	406	4	AFM	4	74351700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67672	74351700	116802576	3879	27381											
EREG	2069	broad.mit.edu	37	chr4	75231047	75231047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaccgcggggaggaggatgGagatgctctgtgccggcagg	7	6	20	8	3	1	2	0	1	1	1	1	6	1	5	2	7	2	2	2	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75231047G>A	ENST00000244869.2	+	1	188	c.22G>A	c.(22-24)Gag>Aag	p.E8K		NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	8					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			GAGGAGGATGGAGATGCTCTG	0.692													A	75231047	G	A	75231047	3	1	364	1	0	0	0	0	1	0	0	0	5261	1175	41	2	24	2	EREG	4	75231047	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	879347	75231047	115923229	3880	27382											
AREG	374	broad.mit.edu	37	chr4	75314872	75314872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaaaatagaagaaacaGaaagaagaaaaatccatgta	25	5	8	3	0	0	5	0	0	0	5	1	6	1	6	1	1	1	1	1	1	11	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75314872G>T	ENST00000395748.3	+	3	631	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AREG_ENST00000511560.1_3'UTR|AREG_ENST00000264487.2_Missense_Mutation_p.R140I|AREG_ENST00000502307.1_Missense_Mutation_p.R140I	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	140					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			agaagaaacagaaagaagaaa	0.353													T	75314872	G	T	75314872	3	4	364	1	0	0	0	0	1	0	0	0	846	942	33	4	429	4	AREG	4	75314872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83825	75314872	115839404	3881	27383											
PARM1	25849	broad.mit.edu	37	chr4	75938264	75938264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacacccccaacaactGtgtcaggcaaagtgatgtgt	15	7	9	10	0	1	2	1	1	0	1	1	2	1	2	2	1	3	1	2	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:75938264G>A	ENST00000307428.7	+	2	885	c.673G>A	c.(673-675)Gtg>Atg	p.V225M	PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	225					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACAACTGTGTCAGGCAA	0.532													A	75938264	G	A	75938264	3	1	364	1	0	0	0	0	1	0	0	0	11528	1377	48	2	679	2	PARM1	4	75938264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	623392	75938264	115216012	3882	27384											
RCHY1	25898	broad.mit.edu	37	chr4	76434492	76434492	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggcaagtataaagcttGtcacagcaaggtgcctaaca	15	7	10	9	1	1	0	1	0	0	0	1	0	1	0	1	2	5	4	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76434492G>A	ENST00000324439.5	-	2	503	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000451788.1_Silent_p.D35D|RCHY1_ENST00000380840.2_Intron|RCHY1_ENST00000512706.1_Silent_p.D13D|RCHY1_ENST00000513257.1_Silent_p.D35D	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	35					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TATAAAGCTTGTCACAGCAAG	0.373													A	76434492	G	A	76434492	2	1	364	1	0	0	0	0	0	0	0	1	13265	1368	48	2		2	RCHY1	4	76434492	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	496228	76434492	114719784	3883	27385											
THAP6	152815	broad.mit.edu	37	chr4	76447088	76447088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtaagtaaattacttgCtgagctcatgttaattcttt	10	20	6	5	0	2	1	1	1	1	0	2	1	2	1	0	0	3	5	0	0	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76447088C>A	ENST00000508105.1	+	3	399	c.308C>A	c.(307-309)gCt>gAt	p.A103D	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000311638.3_Intron|THAP6_ENST00000380837.3_Intron|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Intron|THAP6_ENST00000502620.1_Intron			Q8TBB0	THAP6_HUMAN	THAP domain containing 6	0						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AAATTACTTGCTGAGCTCATG	0.338													A	76447088	C	A	76447088	3	1	364	1	0	0	0	0	1	0	0	0	15948	812	28	4		4	THAP6	4	76447088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12596	76447088	114707188	3884	27386											
THAP6	152815	broad.mit.edu	37	chr4	76452331	76452331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcagggaattaaaggaTgaatgtctgatcagccaaga	17	8	10	6	0	3	3	2	2	1	1	3	5	3	5	1	2	1	0	1	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76452331T>C	ENST00000311638.3	+	5	644	c.576T>C	c.(574-576)gaT>gaC	p.D192D	THAP6_ENST00000507885.1_Intron|THAP6_ENST00000507557.1_Intron|THAP6_ENST00000507556.1_Intron|THAP6_ENST00000380837.3_Silent_p.D150D|THAP6_ENST00000504190.1_Intron|THAP6_ENST00000514480.1_Silent_p.D192D|THAP6_ENST00000502620.1_Intron	NM_144721.4	NP_653322.1	Q8TBB0	THAP6_HUMAN	THAP domain containing 6	192						microtubule cytoskeleton	DNA binding|metal ion binding			lung(5)	5			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AATTAAAGGATGAATGTCTGA	0.393													C	76452331	T	C	76452331	2	2	364	1	0	0	0	0	0	0	0	1	15948	1461	51	3		3	THAP6	4	76452331	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5243	76452331	114701945	3885	27387											
USO1	8615	broad.mit.edu	37	chr4	76695832	76695832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcttctctatagggcGtcttactactgcaggcacta	7	15	7	12	1	4	0	0	0	4	0	5	0	4	0	0	2	3	2	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76695832G>A	ENST00000538159.1	+	8	565	c.565G>A	c.(565-567)Gtc>Atc	p.V189I	USO1_ENST00000514213.2_Missense_Mutation_p.V172I			O60763	USO1_HUMAN	USO1 vesicle transport factor	187	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TCTATAGGGCGTCTTACTACT	0.348													A	76695832	G	A	76695832	3	1	364	1	0	0	0	0	1	0	0	0	17141	1145	40	1	430	1	USO1	4	76695832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243501	76695832	114458444	3886	27388											
USO1	8615	broad.mit.edu	37	chr4	76708250	76708250	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatctcccaccaaccctccTggtgctaccagtagctgcca	8	9	7	17	0	1	0	0	0	1	0	3	0	2	0	6	1	5	4	6	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76708250T>C	ENST00000538159.1	+	10	897	c.897T>C	c.(895-897)ccT>ccC	p.P299P	USO1_ENST00000514213.2_Silent_p.P282P			O60763	USO1_HUMAN	USO1 vesicle transport factor	297	Globular head.				intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCAACCCTCCTGGTGCTACCA	0.438													C	76708250	T	C	76708250	2	2	364	1	0	0	0	0	0	0	0	1	17141	1567	55	3		3	USO1	4	76708250	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12418	76708250	114446026	3887	27389											
USO1	8615	broad.mit.edu	37	chr4	76730167	76730167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcaccaaactacagaCagaaaagcaggaactgttac	18	5	9	9	0	1	3	1	0	0	3	1	5	1	4	1	2	5	2	1	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76730167C>T	ENST00000538159.1	+	22	2465	c.2465C>T	c.(2464-2466)aCa>aTa	p.T822I	USO1_ENST00000514213.2_Missense_Mutation_p.T798I			O60763	USO1_HUMAN	USO1 vesicle transport factor	813					intracellular protein transport|vesicle fusion with Golgi apparatus	cytosol|Golgi membrane	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			AAACTACAGACAGAAAAGCAG	0.338													T	76730167	C	T	76730167	3	4	364	1	0	0	0	0	1	0	0	0	17141	478	17	2	2361	2	USO1	4	76730167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21917	76730167	114424109	3888	27390											
NAAA	27163	broad.mit.edu	37	chr4	76842225	76842225	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatcagcaataaggggagTcttggccaacttgccaacag	14	7	10	10	0	2	0	1	0	1	0	2	1	2	1	2	3	5	1	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:76842225T>G	ENST00000286733.4	-	6	819	c.718A>C	c.(718-720)Act>Cct	p.T240P	NAAA_ENST00000399497.3_Missense_Mutation_p.T240P|NAAA_ENST00000507956.1_Missense_Mutation_p.T240P|NAAA_ENST00000505594.1_Missense_Mutation_p.T139P	NM_014435.3	NP_055250.2	Q02083	NAAA_HUMAN	N-acylethanolamine acid amidase	240				T -> S (in Ref. 4; AAA60119).	lipid metabolic process	lysosome	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	11						ATAAGGGGAGTCTTGGCCAAC	0.547													G	76842225	T	G	76842225	3	3	364	1	0	0	0	0	1	0	0	0	10203	1667	58	5	388	5	NAAA	4	76842225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112058	76842225	114312051	3889	27391											
SCARB2	950	broad.mit.edu	37	chr4	77091087	77091087	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccttctatggcagaaacaAacctctcatctgcttggtaa	11	12	7	11	0	3	1	1	0	3	1	4	1	3	1	2	2	4	3	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77091087A>C	ENST00000264896.2	-	8	1395	c.1046T>G	c.(1045-1047)tTt>tGt	p.F349C	SCARB2_ENST00000452464.2_Missense_Mutation_p.F206C	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	349					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GGCAGAAACAAACCTCTCATC	0.398													C	77091087	A	C	77091087	3	2	364	1	0	0	0	0	1	0	0	0	13974	14	1	5	410	5	SCARB2	4	77091087	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	248862	77091087	114063189	3890	27392											
CCDC158	339965	broad.mit.edu	37	chr4	77305273	77305273	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttaagataagaaatctCtgtgtctaattctcttagta	12	16	5	8	0	3	2	0	0	3	2	5	2	3	2	1	0	0	1	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77305273C>A	ENST00000388914.3	-	5	846	c.694G>T	c.(694-696)Gag>Tag	p.E232*	CCDC158_ENST00000434846.2_Nonsense_Mutation_p.E232*	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	232			E -> D (in dbSNP:rs17001889).							breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TAAGAAATCTCTGTGTCTAAT	0.343													A	77305273	C	A	77305273	4	1	364	1	0	0	0	0	0	1	0	0	2817	922	32	4	2727	4	CCDC158	4	77305273	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214186	77305273	113849003	3891	27393											
SHROOM3	57619	broad.mit.edu	37	chr4	77700012	77700012	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggtcagcatgaggatgcCcgggagctgaaggagaacct	10	6	16	9	1	1	3	1	2	0	1	1	6	1	5	2	4	4	3	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:77700012C>A	ENST00000296043.6	+	11	6626	c.5673C>A	c.(5671-5673)gcC>gcA	p.A1891A	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1891	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			ATGAGGATGCCCGGGAGCTGA	0.537													A	77700012	C	A	77700012	2	1	364	1	0	0	0	0	0	0	0	1	14389	610	22	4		4	SHROOM3	4	77700012	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	394739	77700012	113454264	3892	27394											
CNOT6L	246175	broad.mit.edu	37	chr4	78647395	78647395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaagttggaagccatgtgTgattctcccttctgagcttc	7	15	9	10	0	2	2	0	2	2	0	4	3	2	3	2	1	2	2	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78647395T>C	ENST00000504123.1	-	11	1511	c.1381A>G	c.(1381-1383)Aca>Gca	p.T461A	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T461A			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	461					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						AAGCCATGTGTGATTCTCCCT	0.423													C	78647395	T	C	78647395	3	2	364	1	0	0	0	0	1	0	0	0	3654	1696	59	3	294	3	CNOT6L	4	78647395	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	947383	78647395	112506881	3893	27395											
CNOT6L	246175	broad.mit.edu	37	chr4	78695850	78695850	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcaatgaccaaagtgatgTacttaggctccgcactctac	11	11	8	11	1	2	2	1	2	1	0	3	2	3	2	2	1	2	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78695850T>C	ENST00000504123.1	-	3	278	c.148A>G	c.(148-150)Aca>Gca	p.T50A	CNOT6L_ENST00000264903.4_Missense_Mutation_p.T50A|CNOT6L_ENST00000506166.1_5'UTR			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	50					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						CAAAGTGATGTACTTAGGCTC	0.418													C	78695850	T	C	78695850	3	2	364	1	0	0	0	0	1	0	0	0	3654	1638	57	3	1559	3	CNOT6L	4	78695850	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48455	78695850	112458426	3894	27396											
MRPL1	65008	broad.mit.edu	37	chr4	78804490	78804490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcatatccctatatggaaGgcgaacctgaggatgatgtc	13	9	11	8	1	0	2	0	2	0	0	2	5	1	4	2	3	2	1	2	3	6	3	rs138407676		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:78804490G>A	ENST00000315567.8	+	3	567	c.238G>A	c.(238-240)Ggc>Agc	p.G80S	MRPL1_ENST00000506674.1_3'UTR	NM_020236.3	NP_064621.3	Q9BYD6	RM01_HUMAN	mitochondrial ribosomal protein L1	80							RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)	17						CTATATGGAAGGCGAACCTGA	0.328													A	78804490	G	A	78804490	3	1	364	1	0	0	0	0	1	0	0	0	9850	1000	35	2	248	2	MRPL1	4	78804490	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108640	78804490	112349786	3895	27397											
FRAS1	80144	broad.mit.edu	37	chr4	79434660	79434660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatctacagacaccagcaCgtctgctccaatttagttac	11	11	5	14	1	2	1	0	0	2	1	4	1	4	1	3	0	4	3	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79434660C>T	ENST00000264895.6	+	65	10568	c.10128C>T	c.(10126-10128)caC>caT	p.H3376H		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3371					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GACACCAGCACGTCTGCTCCA	0.498													T	79434660	C	T	79434660	2	4	364	1	0	0	0	0	0	0	0	1	6093	535	19	1		1	FRAS1	4	79434660	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	630170	79434660	111719616	3896	27398											
FRAS1	80144	broad.mit.edu	37	chr4	79443853	79443853	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaagtgaaatctttcgtaTtgactccagaccacctagga	13	10	8	10	1	1	4	0	2	1	2	3	5	2	5	3	1	0	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443853T>C	ENST00000264895.6	+	69	11139	c.10699T>C	c.(10699-10701)Ttg>Ctg	p.L3567L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3562					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATCTTTCGTATTGACTCCAGA	0.433													C	79443853	T	C	79443853	2	2	364	1	0	0	0	0	0	0	0	1	6093	1490	52	3		3	FRAS1	4	79443853	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9193	79443853	111710423	3897	27399											
FRAS1	80144	broad.mit.edu	37	chr4	79443936	79443936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgattctccacatcaactCtggagagccacaagctctta	11	12	6	12	0	4	2	1	1	3	1	5	3	4	2	2	1	3	1	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79443936C>T	ENST00000264895.6	+	69	11222	c.10782C>T	c.(10780-10782)ctC>ctT	p.L3594L		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3589					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CACATCAACTCTGGAGAGCCA	0.433													T	79443936	C	T	79443936	2	4	364	1	0	0	0	0	0	0	0	1	6093	900	32	2		2	FRAS1	4	79443936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	79443936	111710340	3898	27400											
ANXA3	306	broad.mit.edu	37	chr4	79522708	79522708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttttagccgaaagactgCatcgagccttgaaggttggt	9	12	11	9	2	0	2	0	1	0	1	1	4	0	2	3	2	3	2	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:79522708C>T	ENST00000264908.6	+	11	1154	c.775C>T	c.(775-777)Cat>Tat	p.H259Y	ANXA3_ENST00000512884.1_Missense_Mutation_p.H220Y|ANXA3_ENST00000503570.2_Missense_Mutation_p.H220Y	NM_005139.2	NP_005130.1	P12429	ANXA3_HUMAN	annexin A3	259					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						CGAAAGACTGCATCGAGCCTT	0.383													T	79522708	C	T	79522708	3	4	364	1	0	0	0	0	1	0	0	0	719	710	25	2	813	2	ANXA3	4	79522708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78772	79522708	111631568	3899	27401											
FGF5	2250	broad.mit.edu	37	chr4	81188215	81188215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcttggagcagagcagtttCcagtggagcccctcggggcg	6	7	17	11	2	0	1	0	0	0	1	2	3	1	3	3	5	3	4	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81188215C>A	ENST00000456523.3	+	1	423	c.237C>A	c.(235-237)ttC>ttA	p.F79L	FGF5_ENST00000312465.7_Missense_Mutation_p.F79L	NM_033143.2	NP_149134.1	P12034	FGF5_HUMAN	fibroblast growth factor 5	79					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAGCAGTTTCCAGTGGAGCC	0.612													A	81188215	C	A	81188215	3	1	364	1	0	0	0	0	1	0	0	0	5904	854	30	4	239	4	FGF5	4	81188215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1665507	81188215	109966061	3900	27402											
C4orf22	255119	broad.mit.edu	37	chr4	81866076	81866076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagagacagaaaaattCttaatgtggacccaaaggta	20	7	8	6	0	1	2	0	0	1	2	1	4	1	3	1	2	0	1	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81866076C>A	ENST00000358105.3	+	5	638	c.589C>A	c.(589-591)Ctt>Att	p.L197I	C4orf22_ENST00000508675.1_Missense_Mutation_p.L214I	NM_152770.2	NP_689983.2	Q6V702	CD022_HUMAN	chromosome 4 open reading frame 22	197								p.L197I(1)		NS(1)|large_intestine(3)|lung(5)|prostate(1)|skin(5)	15						CAGAAAAATTCTTAATGTGGA	0.333													A	81866076	C	A	81866076	3	1	364	1	0	0	0	0	1	0	0	0	2277	913	32	4	607	4	C4orf22	4	81866076	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	677861	81866076	109288200	3901	27403											
BMP3	651	broad.mit.edu	37	chr4	81967180	81967180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggctgtctaaagataTcactcaactcttgaggaagg	11	11	10	9	0	4	2	2	1	2	1	5	3	5	3	1	3	1	1	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:81967180T>C	ENST00000282701.2	+	2	925	c.605T>C	c.(604-606)aTc>aCc	p.I202T		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	202					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						TCTAAAGATATCACTCAACTC	0.438													C	81967180	T	C	81967180	3	2	364	1	0	0	0	0	1	0	0	0	1467	1435	50	3	611	3	BMP3	4	81967180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101104	81967180	109187096	3902	27404											
RASGEF1B	153020	broad.mit.edu	37	chr4	82369301	82369301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatccctttgtatagactgTggcttggtcttgagaactgt	8	16	10	7	0	1	2	0	1	1	2	2	3	2	2	1	2	1	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:82369301T>C	ENST00000509081.1	-	5	794	c.573A>G	c.(571-573)ccA>ccG	p.P191P	RASGEF1B_ENST00000264400.2_Silent_p.P192P|RASGEF1B_ENST00000335927.7_Silent_p.P150P			Q0VAM2	RGF1B_HUMAN	RasGEF domain family, member 1B	192					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			endometrium(2)|kidney(5)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	26						GTATAGACTGTGGCTTGGTCT	0.502													C	82369301	T	C	82369301	2	2	364	1	0	0	0	0	0	0	0	1	13158	1683	59	3		3	RASGEF1B	4	82369301	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	402121	82369301	108784975	3903	27405											
HNRNPD	3184	broad.mit.edu	37	chr4	83279852	83279852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcccttattttctcttcaGgtgtatctggagaaaggcca	9	14	8	10	0	3	1	1	0	2	1	5	2	4	1	2	3	0	1	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279852G>T	ENST00000313899.7	-	4	858	c.581C>A	c.(580-582)cCt>cAt	p.P194H	HNRNPD_ENST00000541060.1_Missense_Mutation_p.P40H|HNRNPD_ENST00000352301.4_Missense_Mutation_p.P175H|HNRNPD_ENST00000543098.1_Missense_Mutation_p.P142H|HNRNPD_ENST00000353341.4_Missense_Mutation_p.P194H	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	194	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						TTTCTCTTCAGGTGTATCTGG	0.373													T	83279852	G	T	83279852	3	4	364	1	0	0	0	0	1	0	0	0	7319	1000	35	4	506	4	HNRNPD	4	83279852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	910551	83279852	107874424	3904	27406											
HNRNPD	3184	broad.mit.edu	37	chr4	83279883	83279883	+	Frame_Shift_Del	DEL	T	T	-																															agaaaggccaccaacaaaaaTttttttaaccggctcttttg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83279883delT	ENST00000313899.7	-	4	827	c.550delA	c.(550-552)attfs	p.I184fs	HNRNPD_ENST00000541060.1_Frame_Shift_Del_p.I30fs|HNRNPD_ENST00000352301.4_Frame_Shift_Del_p.I165fs|HNRNPD_ENST00000543098.1_Frame_Shift_Del_p.I132fs|HNRNPD_ENST00000353341.4_Frame_Shift_Del_p.I184fs	NM_031370.2	NP_112738.1	Q14103	HNRPD_HUMAN	heterogeneous nuclear ribonucleoprotein D (AU-rich element RNA binding protein 1, 37kDa)	184	RRM 2.				nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|RNA catabolic process|transcription, DNA-dependent	cytosol|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|telomeric DNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	7						CCAACAAAAATTTTTTTAACC	0.368													-	83279883	T	-	83279883	7	5	364	1	0	1	0	1	0	0	0	0	7319	1493	52	0	537	0	HNRNPD	4	83279883	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	31	83279883	107874393	3905	27407											
TMEM150C	441027	broad.mit.edu	37	chr4	83406871	83406871	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggccatgaggatgaaGtctggggagaagcagtcaag	11	8	16	6	0	2	3	1	2	1	1	2	5	2	4	1	4	1	1	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83406871G>A	ENST00000515780.2	-	8	747	c.543C>T	c.(541-543)taC>taT	p.Y181Y	TMEM150C_ENST00000449862.2_Splice_Site_p.Y181Y			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						TGAGGATGAAGTCTGGGGAGA	0.493													A	83406871	G	A	83406871	5	1	364	1	0	0	0	0	0	0	1	0	16169	1043	36	2	210	2	TMEM150C	4	83406871	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126988	83406871	107747405	3906	27408											
SCD5	79966	broad.mit.edu	37	chr4	83557907	83557907	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaattccacagactctcTccccagatgtaccagggcac	11	8	8	14	0	1	2	0	0	1	2	4	3	3	3	4	2	1	2	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83557907T>C	ENST00000319540.4	-	4	958	c.639A>G	c.(637-639)ggA>ggG	p.G213G		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	213					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				ACAGACTCTCTCCCCAGATGT	0.527													C	83557907	T	C	83557907	2	2	364	1	0	0	0	0	0	0	0	1	13979	1538	54	3		3	SCD5	4	83557907	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151036	83557907	107596369	3907	27409											
THAP9	79725	broad.mit.edu	37	chr4	83826058	83826058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagaaagctgaaaaaaggaGctgtgccttctgtttctcta	13	11	10	7	0	2	2	0	1	2	1	3	4	2	3	1	1	3	3	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83826058G>A	ENST00000302236.5	+	2	301	c.250G>A	c.(250-252)Gct>Act	p.A84T		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	84							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GAAAAAAGGAGCTGTGCCTTC	0.353													A	83826058	G	A	83826058	3	1	364	1	0	0	0	0	1	0	0	0	15951	971	34	2	256	2	THAP9	4	83826058	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268151	83826058	107328218	3908	27410											
THAP9	79725	broad.mit.edu	37	chr4	83828938	83828938	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaaatttattttaacagAttttaagtgggagttatata	18	16	6	1	0	0	1	0	0	0	1	0	2	0	2	0	1	1	1	0	1	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83828938A>G	ENST00000302236.5	+	4	632	c.581A>G	c.(580-582)gAt>gGt	p.D194G		NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	194							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				ATTTTAACAGATTTTAAGTGG	0.308													G	83828938	A	G	83828938	5	3	364	1	0	0	0	0	0	0	1	0	15951	347	12	3	595	3	THAP9	4	83828938	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2880	83828938	107325338	3909	27411											
THAP9	79725	broad.mit.edu	37	chr4	83838258	83838258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggatcctagcagtcacaGtttgcaggggtttatggact	8	12	14	7	0	1	0	1	0	0	0	2	2	2	2	1	4	2	4	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83838258G>T	ENST00000302236.5	+	5	944	c.893G>T	c.(892-894)aGt>aTt	p.S298I	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	298							DNA binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				AGCAGTCACAGTTTGCAGGGG	0.418													T	83838258	G	T	83838258	3	4	364	1	0	0	0	0	1	0	0	0	15951	1029	36	4	911	4	THAP9	4	83838258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9320	83838258	107316018	3910	27412											
LIN54	132660	broad.mit.edu	37	chr4	83891528	83891528	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattttatttggtgtctgTgttgtagaatttaaagttga	9	20	10	2	0	1	2	0	1	1	1	1	2	1	2	0	1	0	4	0	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83891528T>C	ENST00000340417.3	-	4	1280	c.903A>G	c.(901-903)acA>acG	p.T301T	LIN54_ENST00000505397.1_Silent_p.T301T|LIN54_ENST00000446851.2_Silent_p.T80T|LIN54_ENST00000395282.2_3'UTR|LIN54_ENST00000395283.2_Intron|LIN54_ENST00000510557.1_Silent_p.T80T|LIN54_ENST00000506560.1_Intron|LIN54_ENST00000442461.2_Silent_p.T80T	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	301					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TTGGTGTCTGTGTTGTAGAAT	0.353													C	83891528	T	C	83891528	2	2	364	1	0	0	0	0	0	0	0	1	8870	1683	59	3		3	LIN54	4	83891528	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53270	83891528	107262748	3911	27413											
LIN54	132660	broad.mit.edu	37	chr4	83905840	83905840	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggctgtagagtcaccaGtagaatttatgttgacaatt	11	13	11	6	1	1	3	1	1	0	2	1	3	1	3	1	1	0	4	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905840G>T	ENST00000340417.3	-	2	535	c.158C>A	c.(157-159)aCt>aAt	p.T53N	LIN54_ENST00000505397.1_Missense_Mutation_p.T53N|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.T53N|LIN54_ENST00000395283.2_Missense_Mutation_p.T53N|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.T53N|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	53					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				AGAGTCACCAGTAGAATTTAT	0.408													T	83905840	G	T	83905840	3	4	364	1	0	0	0	0	1	0	0	0	8870	1029	36	4	2139	4	LIN54	4	83905840	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14312	83905840	107248436	3912	27414											
LIN54	132660	broad.mit.edu	37	chr4	83905871	83905871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttgacaatttcttccagttCtgtctccatgggaattgggg	7	15	11	8	0	3	1	0	1	3	0	5	2	4	2	2	3	0	2	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83905871C>T	ENST00000340417.3	-	2	504	c.127G>A	c.(127-129)Gaa>Aaa	p.E43K	LIN54_ENST00000505397.1_Missense_Mutation_p.E43K|LIN54_ENST00000446851.2_Intron|LIN54_ENST00000395282.2_Missense_Mutation_p.E43K|LIN54_ENST00000395283.2_Missense_Mutation_p.E43K|LIN54_ENST00000510557.1_Intron|LIN54_ENST00000506560.1_Missense_Mutation_p.E43K|LIN54_ENST00000442461.2_Intron	NM_194282.2	NP_919258.2	Q6MZP7	LIN54_HUMAN	lin-54 homolog (C. elegans)	43					cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(5)	14		Hepatocellular(203;0.114)				TCTTCCAGTTCTGTCTCCATG	0.413													T	83905871	C	T	83905871	3	4	364	1	0	0	0	0	1	0	0	0	8870	922	32	2	2170	2	LIN54	4	83905871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31	83905871	107248405	3913	27415											
COPS4	51138	broad.mit.edu	37	chr4	83971034	83971034	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgtatacctattattccagGttgcttccataagacagcat	12	14	6	9	0	0	1	0	0	0	1	2	1	2	1	3	1	3	4	3	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83971034G>A	ENST00000509093.1	+	4	1085	c.307G>A	c.(307-309)Gtt>Att	p.V103I	COPS4_ENST00000503682.1_Splice_Site_p.V103I|COPS4_ENST00000264389.2_Splice_Site_p.V103I|COPS4_ENST00000511653.1_Splice_Site_p.V103I	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	103					cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				ATTATTCCAGGTTGCTTCCAT	0.333													A	83971034	G	A	83971034	5	1	364	1	0	0	0	0	0	0	1	0	3766	1275	44	2	321	2	COPS4	4	83971034	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65163	83971034	107183242	3914	27416											
COPS4	51138	broad.mit.edu	37	chr4	83984237	83984237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttctcttagggcagcagCgttctcggatgctagctact	7	14	10	10	2	2	0	0	0	2	0	4	1	2	1	0	2	5	5	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984237C>T	ENST00000509093.1	+	7	1502	c.724C>T	c.(724-726)Cgt>Tgt	p.R242C	COPS4_ENST00000503682.1_Missense_Mutation_p.R242C|COPS4_ENST00000264389.2_Missense_Mutation_p.R242C|COPS4_ENST00000511653.1_Missense_Mutation_p.R242C	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	242	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AGGGCAGCAGCGTTCTCGGAT	0.378													T	83984237	C	T	83984237	3	4	364	1	0	0	0	0	1	0	0	0	3766	768	27	1	750	1	COPS4	4	83984237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13203	83984237	107170039	3915	27417											
COPS4	51138	broad.mit.edu	37	chr4	83984281	83984281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaaggatgaaaggtgccaGcaacttgctgcctatgggat	11	11	12	7	0	0	1	0	1	0	0	0	3	0	3	2	3	5	2	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:83984281G>A	ENST00000509093.1	+	7	1546	c.768G>A	c.(766-768)caG>caA	p.Q256Q	COPS4_ENST00000503682.1_Silent_p.Q256Q|COPS4_ENST00000264389.2_Silent_p.Q256Q|COPS4_ENST00000511653.1_Silent_p.Q256Q	NM_001258006.1	NP_001244935.1	Q9BT78	CSN4_HUMAN	COP9 signalosome subunit 4	256	PCI.				cullin deneddylation	cytoplasm|signalosome	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|urinary_tract(2)	13		Hepatocellular(203;0.114)				AAAGGTGCCAGCAACTTGCTG	0.403													A	83984281	G	A	83984281	2	1	364	1	0	0	0	0	0	0	0	1	3766	962	34	2		2	COPS4	4	83984281	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	83984281	107169995	3916	27418											
COQ2	27235	broad.mit.edu	37	chr4	84194771	84194771	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattggctgttcttgtaacCttaaaacataaaaacagata	16	12	6	7	1	1	1	0	0	1	1	1	2	1	1	1	1	3	3	1	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84194771C>A	ENST00000311469.4	-	3	570		c.e3-1		COQ2_ENST00000514935.1_Splice_Site|COQ2_ENST00000439031.2_Splice_Site|COQ2_ENST00000311461.7_Splice_Site	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase						glycerol metabolic process|isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrial membrane	4-hydroxybenzoate decaprenyltransferase activity|4-hydroxybenzoate nonaprenyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				TTCTTGTAACCTTAAAACATA	0.393													A	84194771	C	A	84194771	5	1	364	1	0	0	0	0	0	0	1	0	3776	695	24	4	715	4	COQ2	4	84194771	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210490	84194771	106959505	3917	27419											
HPSE	10855	broad.mit.edu	37	chr4	84216533	84216533	+	Frame_Shift_Del	DEL	A	A	-																															actttggcatttcttatcacAaaaaaactatatgagaaagc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84216533delA	ENST00000405413.2	-	13	1732	c.1596delT	c.(1594-1596)tttfs	p.F532fs	HPSE_ENST00000513463.1_Frame_Shift_Del_p.F474fs|HPSE_ENST00000311412.5_Frame_Shift_Del_p.F532fs|HPSE_ENST00000512196.1_Frame_Shift_Del_p.F458fs	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	532	Required for transferring proheparanase to the Golgi apparatus, secretion and subsequent enzyme activity and for enhancement of PKB/AKT1 phosphorylation.				carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	TTCTTATCACAAAAAAACTAT	0.383													-	84216533	A	-	84216533	7	5	364	1	0	1	0	1	0	0	0	0	7399	127	5	0	39	0	HPSE	4	84216533	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	21762	84216533	106937743	3918	27420											
HPSE	10855	broad.mit.edu	37	chr4	84227394	84227394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatccactaaatggtagtTtcctgctccaaagaatactt	12	14	5	10	0	1	1	1	0	0	1	4	1	4	1	3	1	2	3	3	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84227394T>C	ENST00000405413.2	-	10	1304	c.1168A>G	c.(1168-1170)Aac>Gac	p.N390D	HPSE_ENST00000513463.1_Missense_Mutation_p.N332D|HPSE_ENST00000512196.1_Intron|HPSE_ENST00000311412.5_Missense_Mutation_p.N390D	NM_006665.5	NP_006656.2	Q9Y251	HPSE_HUMAN	heparanase	390					carbohydrate metabolic process|cell adhesion|proteoglycan metabolic process	extracellular region|lysosomal membrane|nucleus	beta-glucuronidase activity|cation binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	20		Hepatocellular(203;0.114)		COAD - Colon adenocarcinoma(81;0.141)	Heparin(DB01109)	AAATGGTAGTTTCCTGCTCCA	0.443													C	84227394	T	C	84227394	3	2	364	1	0	0	0	0	1	0	0	0	7399	1841	64	3	479	3	HPSE	4	84227394	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10861	84227394	106926882	3919	27421											
MRPS18C	51023	broad.mit.edu	37	chr4	84379555	84379555	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatgtatcttgtgtggAaagcatgtagattataagaa	17	12	10	2	0	1	3	0	0	1	3	1	4	1	4	0	1	1	3	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84379555A>C	ENST00000295491.4	+	3	320	c.207A>C	c.(205-207)ggA>ggC	p.G69G	MRPS18C_ENST00000507019.1_Intron|MRPS18C_ENST00000507349.1_Intron	NM_016067.2	NP_057151.1	Q9Y3D5	RT18C_HUMAN	mitochondrial ribosomal protein S18C	69					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5		Hepatocellular(203;0.114)				TCTTGTGTGGAAAGCATGTAG	0.328													C	84379555	A	C	84379555	2	2	364	1	0	0	0	0	0	0	0	1	9906	233	9	5		5	MRPS18C	4	84379555	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	152161	84379555	106774721	3920	27422											
FAM175A	84142	broad.mit.edu	37	chr4	84383731	84383731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttggttactactaccaGtatctgctttagatcgtttg	8	18	7	8	1	2	1	0	0	2	1	3	1	2	1	1	1	4	4	1	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383731G>T	ENST00000321945.7	-	9	1229	c.1121C>A	c.(1120-1122)aCt>aAt	p.T374N	FAM175A_ENST00000506553.1_Missense_Mutation_p.T325N|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	374					chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						ACTACTACCAGTATCTGCTTT	0.383													T	84383731	G	T	84383731	3	4	364	1	0	0	0	0	1	0	0	0	5542	1029	36	4	112	4	FAM175A	4	84383731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4176	84383731	106770545	3921	27423											
FAM175A	84142	broad.mit.edu	37	chr4	84383808	84383808	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctgtcatctaagtctaaGgctttatgcttaatgatttg	10	17	7	7	0	4	1	1	1	3	0	4	1	4	1	0	1	1	2	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84383808G>T	ENST00000321945.7	-	9	1152	c.1044C>A	c.(1042-1044)gcC>gcA	p.A348A	FAM175A_ENST00000506553.1_Silent_p.A299A|MRPS18C_ENST00000509571.1_Intron	NM_139076.2	NP_620775.2	Q6UWZ7	F175A_HUMAN	family with sequence similarity 175, member A	348			A -> T (common polymorphism not associated with susceptibility to breast cancer; dbSNP:rs12642536).		chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of DNA repair|response to ionizing radiation	BRCA1-A complex	polyubiquitin binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	13						CTAAGTCTAAGGCTTTATGCT	0.393													T	84383808	G	T	84383808	2	4	364	1	0	0	0	0	0	0	0	1	5542	987	35	4		4	FAM175A	4	84383808	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77	84383808	106770468	3922	27424											
AGPAT9	84803	broad.mit.edu	37	chr4	84465730	84465730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggaaccccaaaggagtcGattcttaaaaactctgcttc	15	9	7	10	1	2	0	0	0	2	0	4	3	2	2	2	2	3	1	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:84465730G>A	ENST00000395226.2	+	3	401	c.183G>A	c.(181-183)tcG>tcA	p.S61S	AGPAT9_ENST00000264409.4_Silent_p.S61S	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	61					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAAAGGAGTCGATTCTTAAAA	0.343													A	84465730	G	A	84465730	2	1	364	1	0	0	0	0	0	0	0	1	392	1045	37	1		1	AGPAT9	4	84465730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81922	84465730	106688546	3923	27425											
CDS1	1040	broad.mit.edu	37	chr4	85560115	85560115	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggaaggattcattggtggTttcttttccacagttgtgtt	6	18	12	5	0	2	0	1	0	1	0	3	2	3	2	1	4	0	3	1	4	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85560115T>A	ENST00000295887.5	+	9	1272	c.849T>A	c.(847-849)ggT>ggA	p.G283G		NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	283					signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		TCATTGGTGGTTTCTTTTCCA	0.299													A	85560115	T	A	85560115	2	1	364	1	0	0	0	0	0	0	0	1	3207	1712	60	5		5	CDS1	4	85560115	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1094385	85560115	105594161	3924	27426											
WDFY3	23001	broad.mit.edu	37	chr4	85612936	85612936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctacaggttctttgaGttctagaaaaaagaaatcat	14	14	7	6	0	3	3	1	1	2	2	4	3	4	3	1	1	1	2	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85612936G>A	ENST00000322366.6	-	59	9408	c.9001C>T	c.(9001-9003)Ctc>Ttc	p.L3001F	WDFY3_ENST00000295888.4_Missense_Mutation_p.L3018F			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3018						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GGTTCTTTGAGTTCTAGAAAA	0.338													A	85612936	G	A	85612936	3	1	364	1	0	0	0	0	1	0	0	0	17372	1029	36	2	1564	2	WDFY3	4	85612936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52821	85612936	105541340	3925	27427											
WDFY3	23001	broad.mit.edu	37	chr4	85626601	85626601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactgagctaatcgttcatCtgtttgtgctcccattggct	7	16	8	10	1	2	1	1	1	1	0	4	1	3	1	1	1	3	5	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85626601C>A	ENST00000322366.6	-	53	8637	c.8230G>T	c.(8230-8232)Gat>Tat	p.D2744Y	WDFY3_ENST00000295888.4_Missense_Mutation_p.D2761Y			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2761	BEACH.					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATCGTTCATCTGTTTGTGCT	0.383													A	85626601	C	A	85626601	3	1	364	1	0	0	0	0	1	0	0	0	17372	913	32	4	2359	4	WDFY3	4	85626601	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13665	85626601	105527675	3926	27428											
WDFY3	23001	broad.mit.edu	37	chr4	85719252	85719253	+	Frame_Shift_Ins	INS	-	-	A																															ttaaaggacttgccaaacgtINSaaaaactccctaagaaagag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:85719252_85719253insA	ENST00000322366.6	-	18	3238_3239	c.2831_2832insT	c.(2830-2832)ttafs	p.L944fs	WDFY3_ENST00000295888.4_Frame_Shift_Ins_p.L944fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	944						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGCCAAACGTAAAAACTCCCT	0.317													A	85719253	-	A	85719252	7	5	364	1	0	1	1	0	0	0	0	0	17372	1635	57	0	7952	0	WDFY3	4	85719252	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	92651	85719252	105435024	3927	27429											
ARHGAP24	83478	broad.mit.edu	37	chr4	86921845	86921845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggaacccaggagaacCgagagaggaaacacaatatg	18	3	12	8	1	0	2	0	0	0	2	0	7	0	4	2	3	3	0	2	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:86921845C>T	ENST00000395184.1	+	10	2683	c.2217C>T	c.(2215-2217)acC>acT	p.T739T	ARHGAP24_ENST00000395183.2_Silent_p.T644T|RP13-514E23.2_ENST00000610225.1_RNA|ARHGAP24_ENST00000264343.4_Silent_p.T646T	NM_001025616.2	NP_001020787.2	Q8N264	RHG24_HUMAN	Rho GTPase activating protein 24	739					angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell projection|cytoskeleton|cytosol|focal adhesion	GTPase activator activity|protein binding			breast(3)|cervix(1)|endometrium(3)|large_intestine(4)|lung(10)|skin(1)|stomach(1)|urinary_tract(1)	24		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000571)		CCAGGAGAACCGAGAGAGGAA	0.473													T	86921845	C	T	86921845	2	4	364	1	0	0	0	0	0	0	0	1	876	639	23	1		1	ARHGAP24	4	86921845	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1202593	86921845	104232431	3928	27430											
MAPK10	5602	broad.mit.edu	37	chr4	87028381	87028381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataacaaaactcacgttttTatggttcacacacttcatga	15	13	4	9	1	3	1	3	1	0	0	3	1	3	1	0	1	2	2	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87028381T>C	ENST00000395169.3	-	5	967	c.247A>G	c.(247-249)Aaa>Gaa	p.K83E	MAPK10_ENST00000449047.2_De_novo_Start_InFrame|MAPK10_ENST00000361569.2_Missense_Mutation_p.K121E|MAPK10_ENST00000395160.3_De_novo_Start_InFrame|MAPK10_ENST00000395166.1_Missense_Mutation_p.K83E|MAPK10_ENST00000359221.3_Missense_Mutation_p.K121E|MAPK10_ENST00000395161.2_Missense_Mutation_p.K121E|MAPK10_ENST00000513839.1_5'UTR|MAPK10_ENST00000395157.3_De_novo_Start_InFrame	NM_138980.2|NM_138982.2	NP_620446.1|NP_620448.1	P53779	MK10_HUMAN	mitogen-activated protein kinase 10	121	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|JUN kinase activity|MAP kinase kinase activity|protein binding			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		CTCACGTTTTTATGGTTCACA	0.418													C	87028381	T	C	87028381	3	2	364	1	0	0	0	0	1	0	0	0	9347	1763	61	3	1078	3	MAPK10	4	87028381	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	106536	87028381	104125895	3929	27431											
PTPN13	5783	broad.mit.edu	37	chr4	87622930	87622930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaagaaacttcaggttCtgagggaagccatgaatgta	16	8	11	6	0	2	3	1	2	1	1	2	5	2	4	1	2	2	2	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87622930C>A	ENST00000436978.1	+	7	1651	c.1171C>A	c.(1171-1173)Ctg>Atg	p.L391M	PTPN13_ENST00000316707.6_Missense_Mutation_p.L391M|PTPN13_ENST00000427191.2_Missense_Mutation_p.L391M|PTPN13_ENST00000411767.2_Missense_Mutation_p.L391M|PTPN13_ENST00000511467.1_Missense_Mutation_p.L391M	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	391						cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACTTCAGGTTCTGAGGGAAGC	0.358													A	87622930	C	A	87622930	3	1	364	1	0	0	0	0	1	0	0	0	12868	912	32	4	1193	4	PTPN13	4	87622930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594549	87622930	103531346	3930	27432											
SLC10A6	345274	broad.mit.edu	37	chr4	87745020	87745020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagttcttttttccatGtttgttcttcaatctcctct	5	21	4	11	0	5	1	1	1	4	0	7	1	6	1	3	0	0	3	3	0	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87745020G>A	ENST00000273905.6	-	6	1102	c.955C>T	c.(955-957)Cat>Tat	p.H319Y		NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	319						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		TTTTTTCCATGTTTGTTCTTC	0.398													A	87745020	G	A	87745020	3	1	364	1	0	0	0	0	1	0	0	0	14472	1377	48	2	182	2	SLC10A6	4	87745020	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122090	87745020	103409256	3931	27433											
SLC10A6	345274	broad.mit.edu	37	chr4	87752964	87752964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgagaatgattttggatTgttttggccatctgtaattc	8	18	9	6	0	1	2	0	2	1	1	2	4	1	3	2	2	0	2	2	2	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87752964T>C	ENST00000273905.6	-	3	713	c.566A>G	c.(565-567)cAa>cGa	p.Q189R	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	189						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		GATTTTGGATTGTTTTGGCCA	0.473													C	87752964	T	C	87752964	3	2	364	1	0	0	0	0	1	0	0	0	14472	1812	63	3	583	3	SLC10A6	4	87752964	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7944	87752964	103401312	3932	27434											
SLC10A6	345274	broad.mit.edu	37	chr4	87769930	87769930	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaacccagaaggtgaaaatGttagagatggtgccccccgg	12	7	12	10	1	1	3	1	1	0	2	1	4	1	3	4	3	2	1	4	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87769930G>A	ENST00000273905.6	-	1	486	c.339C>T	c.(337-339)aaC>aaT	p.N113N	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	113						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		AGGTGAAAATGTTAGAGATGG	0.493													A	87769930	G	A	87769930	2	1	364	1	0	0	0	0	0	0	0	1	14472	1368	48	2		2	SLC10A6	4	87769930	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16966	87769930	103384346	3933	27435											
AFF1	4299	broad.mit.edu	37	chr4	87968380	87968380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaactcttccccggacGcaaggaagcagcaaggttca	13	5	10	13	2	2	0	1	0	1	0	3	2	3	2	2	3	4	5	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:87968380G>A	ENST00000307808.6	+	3	1092	c.672G>A	c.(670-672)acG>acA	p.T224T	AFF1_ENST00000544085.1_Intron|AFF1_ENST00000395146.4_Silent_p.T231T	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	224						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		TTCCCCGGACGCAAGGAAGCA	0.498													A	87968380	G	A	87968380	2	1	364	1	0	0	0	0	0	0	0	1	356	1074	38	1		1	AFF1	4	87968380	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198450	87968380	103185896	3934	27436											
AFF1	4299	broad.mit.edu	37	chr4	88036337	88036337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggataccccagcctccCgggaaggggagccgccagag	8	4	14	15	3	1	1	0	0	1	1	3	4	2	4	6	4	3	0	6	4	2	1	rs140176505	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036337C>T	ENST00000307808.6	+	11	2751	c.2331C>T	c.(2329-2331)ccC>ccT	p.P777P	AFF1_ENST00000544085.1_Silent_p.P415P|AFF1_ENST00000395146.4_Silent_p.P784P	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	777						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		CCCAGCCTCCCGGGAAGGGGA	0.587													T	88036337	C	T	88036337	2	4	364	1	0	0	0	0	0	0	0	1	356	639	23	1		1	AFF1	4	88036337	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67957	88036337	103117939	3935	27437											
AFF1	4299	broad.mit.edu	37	chr4	88036378	88036378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcagaagataaacagcCgcccgcagggaagaagcaca	18	1	12	10	2	0	3	0	0	0	3	0	5	0	4	2	1	4	3	2	1	6	1	rs142319329		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88036378C>T	ENST00000307808.6	+	11	2792	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	AFF1_ENST00000544085.1_Missense_Mutation_p.P429L|AFF1_ENST00000395146.4_Missense_Mutation_p.P798L	NM_005935.2	NP_005926.1	P51825	AFF1_HUMAN	AF4/FMR2 family, member 1	791						nucleus	sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)	3		Acute lymphoblastic leukemia(40;0.0935)|all_hematologic(202;0.111)|Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000233)		GATAAACAGCCGCCCGCAGGG	0.567													T	88036378	C	T	88036378	3	4	364	1	0	0	0	0	1	0	0	0	356	652	23	1	2456	1	AFF1	4	88036378	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41	88036378	103117898	3936	27438											
HSD17B13	345275	broad.mit.edu	37	chr4	88238285	88238285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaaatgtcttggtaaTctcttcatccttggtgctga	8	15	8	10	0	4	1	2	1	2	0	6	2	5	1	2	2	1	2	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88238285T>C	ENST00000328546.4	-	3	473	c.409A>G	c.(409-411)Att>Gtt	p.I137V	HSD17B13_ENST00000302219.6_Missense_Mutation_p.I101V	NM_178135.3	NP_835236.2	Q7Z5P4	DHB13_HUMAN	hydroxysteroid (17-beta) dehydrogenase 13	137						extracellular region	binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.000308)		GTCTTGGTAATCTCTTCATCC	0.403													C	88238285	T	C	88238285	3	2	364	1	0	0	0	0	1	0	0	0	7437	1435	50	3	513	3	HSD17B13	4	88238285	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	201907	88238285	102915991	3937	27439											
HSD17B11	51170	broad.mit.edu	37	chr4	88258453	88258453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgctttcattttatatccaAtaactgcatcaaacttaaca	14	14	3	10	1	2	0	2	0	0	0	3	0	3	0	1	0	4	2	1	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88258453A>G	ENST00000358290.4	-	7	1193	c.878T>C	c.(877-879)aTt>aCt	p.I293T	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.I249T|RP11-529H2.2_ENST00000508163.1_RNA	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	293					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		TTTATATCCAATAACTGCATC	0.313													G	88258453	A	G	88258453	3	3	364	1	0	0	0	0	1	0	0	0	7435	101	4	3	28	3	HSD17B11	4	88258453	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20168	88258453	102895823	3938	27440											
HSD17B11	51170	broad.mit.edu	37	chr4	88278558	88278558	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgaaatccaacagcagcaaActtgcttgaactgaaaatag	18	8	7	8	0	0	3	0	3	0	0	1	3	1	3	1	0	6	3	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88278558A>G	ENST00000358290.4	-	5	883	c.568T>C	c.(568-570)Ttt>Ctt	p.F190L	HSD17B11_ENST00000507518.1_5'UTR|HSD17B11_ENST00000507286.1_Missense_Mutation_p.F146L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	190					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		ACAGCAGCAAACTTGCTTGAA	0.378													G	88278558	A	G	88278558	3	3	364	1	0	0	0	0	1	0	0	0	7435	43	2	3	346	3	HSD17B11	4	88278558	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20105	88278558	102875718	3939	27441											
SPARCL1	8404	broad.mit.edu	37	chr4	88412805	88412805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgttgccttcacttgacGtttcctcctcatttgatgag	6	17	7	11	1	3	3	3	3	0	0	5	3	5	3	3	0	1	2	3	0	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88412805G>A	ENST00000418378.1	-	6	1827	c.1256C>T	c.(1255-1257)aCg>aTg	p.T419M	SPARCL1_ENST00000503414.1_Missense_Mutation_p.T294M|SPARCL1_ENST00000282470.6_Missense_Mutation_p.T419M	NM_001128310.1	NP_001121782.1	Q14515	SPRL1_HUMAN	SPARC-like 1 (hevin)	419			T -> A (in dbSNP:rs1130643).		signal transduction	extracellular space|proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(2)	21				OV - Ovarian serous cystadenocarcinoma(123;0.00118)		TTCACTTGACGTTTCCTCCTC	0.398													A	88412805	G	A	88412805	3	1	364	1	0	0	0	0	1	0	0	0	15092	1145	40	1	766	1	SPARCL1	4	88412805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134247	88412805	102741471	3940	27442											
MEPE	56955	broad.mit.edu	37	chr4	88766237	88766237	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagaaagaaagatttgTccctttctgaagccagtgag	15	9	11	6	0	1	5	0	2	1	3	2	6	2	6	2	1	1	0	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88766237T>C	ENST00000497649.2	+	6	523	c.145T>C	c.(145-147)Tcc>Ccc	p.S49P	MEPE_ENST00000361056.3_Missense_Mutation_p.S73P|MEPE_ENST00000511670.1_3'UTR|MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000395102.4_Missense_Mutation_p.S104P|MEPE_ENST00000508016.1_3'UTR|MEPE_ENST00000424957.3_Missense_Mutation_p.S73P			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	73					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		GAAAGATTTGTCCCTTTCTGA	0.308													C	88766237	T	C	88766237	3	2	364	1	0	0	0	0	1	0	0	0	9553	1667	58	3	227	3	MEPE	4	88766237	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	353432	88766237	102388039	3941	27443											
PKD2	5311	broad.mit.edu	37	chr4	88957479	88957479	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaactaactttaaaactCtgtcttccatggaagacttc	15	12	5	9	0	2	2	0	0	2	2	4	3	3	3	1	1	3	0	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:88957479C>A	ENST00000237596.2	+	3	883	c.817C>A	c.(817-819)Ctg>Atg	p.L273M		NM_000297.3	NP_000288.1	Q13563	PKD2_HUMAN	polycystic kidney disease 2 (autosomal dominant)	273						basal cortex|basal plasma membrane|endoplasmic reticulum|integral to membrane|lamellipodium|microtubule basal body	calcium ion binding|cytoskeletal protein binding|voltage-gated chloride channel activity|voltage-gated sodium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(2)|lung(15)|skin(4)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)|Acute lymphoblastic leukemia(40;0.221)		OV - Ovarian serous cystadenocarcinoma(123;9.98e-10)|COAD - Colon adenocarcinoma(81;0.0237)		CTTTAAAACTCTGTCTTCCAT	0.413													A	88957479	C	A	88957479	3	1	364	1	0	0	0	0	1	0	0	0	12043	912	32	4	827	4	PKD2	4	88957479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191242	88957479	102196797	3942	27444											
PPM1K	152926	broad.mit.edu	37	chr4	89199408	89199408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgagcgaagtcaaaccGatcttcattctctttccgtt	9	13	7	12	3	4	1	2	1	2	0	6	3	5	1	2	0	3	2	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89199408G>A	ENST00000608933.1	-	2	717	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	PPM1K_ENST00000315194.4_Missense_Mutation_p.R110W|PPM1K_ENST00000506423.1_5'UTR|PPM1K_ENST00000295908.7_Missense_Mutation_p.R110W|PPM1K_ENST00000508256.1_Intron|PPM1K_ENST00000514204.1_Missense_Mutation_p.R110W	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		AAGTCAAACCGATCTTCATTC	0.498													A	89199408	G	A	89199408	3	1	364	1	0	0	0	0	1	0	0	0	12425	1057	37	1	814	1	PPM1K	4	89199408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241929	89199408	101954868	3943	27445											
HERC6	55008	broad.mit.edu	37	chr4	89319298	89319298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgactttcttttagacttCgtggatgttcaagtcaaaca	11	16	7	7	1	3	2	2	1	1	1	4	3	3	3	0	1	1	1	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89319298C>T	ENST00000380265.5	+	8	1212	c.1029C>T	c.(1027-1029)ttC>ttT	p.F343F	HERC6_ENST00000264346.7_Silent_p.F343F	NM_001165136.1	NP_001158608.1	Q8IVU3	HERC6_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 6	343			F -> L (in dbSNP:rs17014118).		protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytosol	ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)	11		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000222)		TTTTAGACTTCGTGGATGTTC	0.294													T	89319298	C	T	89319298	2	4	364	1	0	0	0	0	0	0	0	1	7117	883	31	1		1	HERC6	4	89319298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119890	89319298	101834978	3944	27446											
HERC5	51191	broad.mit.edu	37	chr4	89410380	89410380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagagagtctgaattcGctttgaggcccacgtttgat	12	11	11	7	2	1	5	0	3	1	2	2	6	1	5	1	1	0	2	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89410380G>A	ENST00000264350.3	+	16	2179	c.2026G>A	c.(2026-2028)Gct>Act	p.A676T	HERC5_ENST00000508159.1_Missense_Mutation_p.A314T	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	676					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTCTGAATTCGCTTTGAGGCC	0.368													A	89410380	G	A	89410380	3	1	364	1	0	0	0	0	1	0	0	0	7116	1087	38	1	2088	1	HERC5	4	89410380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91082	89410380	101743896	3945	27447											
HERC5	51191	broad.mit.edu	37	chr4	89425652	89425652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattttctctagaatgcaCgttatgaaccaggatataac	13	14	7	7	1	1	2	0	1	1	1	2	3	1	3	1	1	3	3	1	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89425652C>T	ENST00000264350.3	+	22	2926	c.2773C>T	c.(2773-2775)Cgt>Tgt	p.R925C	HERC5_ENST00000508159.1_Missense_Mutation_p.R563C	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	925	HECT.				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		CTAGAATGCACGTTATGAACC	0.323													T	89425652	C	T	89425652	3	4	364	1	0	0	0	0	1	0	0	0	7116	536	19	1	2859	1	HERC5	4	89425652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15272	89425652	101728624	3946	27448											
HERC3	8916	broad.mit.edu	37	chr4	89577217	89577217	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtctctggaatttaaaggTattttaagtgatgaaaacag	14	15	9	3	0	1	2	0	2	1	0	2	3	1	3	0	2	1	1	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89577217T>C	ENST00000407637.1	+	9	1266	c.1100T>C	c.(1099-1101)gTa>gCa	p.V367A	HERC3_ENST00000402738.1_Intron|HERC3_ENST00000264345.3_Intron			Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	0					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		AATTTAAAGGTATTTTAAGTG	0.383													C	89577217	T	C	89577217	3	2	364	1	0	0	0	0	1	0	0	0	7114	1653	57	3		3	HERC3	4	89577217	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151565	89577217	101577059	3947	27449											
HERC3	8916	broad.mit.edu	37	chr4	89599166	89599166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcatgcttctcaccctgGagcctctgctggccagaagc	6	11	9	15	0	4	1	2	0	3	1	5	2	4	2	3	2	4	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89599166G>A	ENST00000402738.1	+	19	2316	c.2077G>A	c.(2077-2079)Gag>Aag	p.E693K	HERC3_ENST00000543130.1_Missense_Mutation_p.E137K|HERC3_ENST00000264345.3_Missense_Mutation_p.E693K	NM_001271602.1|NM_014606.1	NP_001258531.1|NP_055421.1	Q15034	HERC3_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 3	693					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasmic membrane-bounded vesicle	ubiquitin-protein ligase activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|prostate(2)|skin(2)	45				OV - Ovarian serous cystadenocarcinoma(123;0.000319)		TCTCACCCTGGAGCCTCTGCT	0.512													A	89599166	G	A	89599166	3	1	364	1	0	0	0	0	1	0	0	0	7114	1175	41	2	2143	2	HERC3	4	89599166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21949	89599166	101555110	3948	27450											
FAM13A	10144	broad.mit.edu	37	chr4	89827531	89827531	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagaaaacatagtttaccTtggtttttggaggtggtttt	10	16	11	4	0	0	1	0	0	0	1	0	3	0	2	1	4	2	3	1	4	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:89827531T>C	ENST00000264344.5	-	6	1049	c.842A>G	c.(841-843)aAg>aGg	p.K281R	FAM13A_ENST00000511976.1_Splice_Site_p.K72R|FAM13A_ENST00000502459.1_5'UTR	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	281					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						ATAGTTTACCTTGGTTTTTGG	0.358													C	89827531	T	C	89827531	5	2	364	1	0	0	0	0	0	0	1	0	5497	1623	56	3	2338	3	FAM13A	4	89827531	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	228365	89827531	101326745	3949	27451											
GPRIN3	285513	broad.mit.edu	37	chr4	90169635	90169635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttcttttactacctgagGagatgcaggcttcttttccc	6	18	7	10	0	2	2	0	1	2	1	3	3	3	2	2	2	3	2	2	2	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90169635G>T	ENST00000609438.1	-	2	2145	c.1627C>A	c.(1627-1629)Cct>Act	p.P543T	GPRIN3_ENST00000333209.4_Missense_Mutation_p.P543T	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		ACTACCTGAGGAGATGCAGGC	0.453													T	90169635	G	T	90169635	3	4	364	1	0	0	0	0	1	0	0	0	6786	1174	41	4	707	4	GPRIN3	4	90169635	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	342104	90169635	100984641	3950	27452											
GPRIN3	285513	broad.mit.edu	37	chr4	90170998	90170998	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaatgtggcaggtgctttCtgcacttcattgaacacacc	9	13	9	10	0	2	2	1	2	1	0	2	2	2	2	1	2	3	3	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90170998C>T	ENST00000609438.1	-	2	782	c.264G>A	c.(262-264)caG>caA	p.Q88Q	GPRIN3_ENST00000333209.4_Silent_p.Q88Q	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		CAGGTGCTTTCTGCACTTCAT	0.582													T	90170998	C	T	90170998	2	4	364	1	0	0	0	0	0	0	0	1	6786	912	32	2		2	GPRIN3	4	90170998	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1363	90170998	100983278	3951	27453											
MMRN1	22915	broad.mit.edu	37	chr4	90833185	90833185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcctggatacagtgggccGaaatgtcaactaagaggtac	12	9	12	8	1	1	1	1	0	0	1	2	3	2	2	2	3	3	1	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:90833185G>A	ENST00000394980.1	+	4	1153	c.834G>A	c.(832-834)ccG>ccA	p.P278P	MMRN1_ENST00000264790.2_Silent_p.P278P|MMRN1_ENST00000508372.1_Silent_p.P20P|MMRN1_ENST00000394981.1_Silent_p.P244P			Q13201	MMRN1_HUMAN	multimerin 1	278	EMI.				cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		ACAGTGGGCCGAAATGTCAAC	0.363													A	90833185	G	A	90833185	2	1	364	1	0	0	0	0	0	0	0	1	9746	1045	37	1		1	MMRN1	4	90833185	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	662187	90833185	100321091	3952	27454											
GRID2	2895	broad.mit.edu	37	chr4	94032058	94032058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagacactcttaggcgagCgatccttgttatgaatcctg	9	12	10	10	3	1	2	0	1	1	1	4	5	3	2	2	1	1	1	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94032058C>T	ENST00000282020.4	+	4	947	c.689C>T	c.(688-690)gCg>gTg	p.A230V	GRID2_ENST00000510992.1_Missense_Mutation_p.A135V|GRID2_ENST00000505687.1_3'UTR	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	230					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	CTTAGGCGAGCGATCCTTGTT	0.388													T	94032058	C	T	94032058	3	4	364	1	0	0	0	0	1	0	0	0	6827	768	27	1	703	1	GRID2	4	94032058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3198873	94032058	97122218	3953	27455											
GRID2	2895	broad.mit.edu	37	chr4	94693399	94693399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagtgatttcaggaacaCtcatattaccacaacaacct	16	10	4	11	0	3	1	3	1	0	0	3	2	3	2	2	1	4	0	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693399C>T	ENST00000282020.4	+	16	3032	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	GRID2_ENST00000510992.1_Missense_Mutation_p.T830I	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	925	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	TTCAGGAACACTCATATTACC	0.458													T	94693399	C	T	94693399	3	4	364	1	0	0	0	0	1	0	0	0	6827	565	20	2	2836	2	GRID2	4	94693399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661341	94693399	96460877	3954	27456											
GRID2	2895	broad.mit.edu	37	chr4	94693538	94693538	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggcacagggcacctaaTgggggctttttcaggagtcc	8	11	13	9	0	1	0	1	0	0	0	2	1	2	1	2	5	0	3	2	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:94693538T>C	ENST00000282020.4	+	16	3171	c.2913T>C	c.(2911-2913)aaT>aaC	p.N971N	GRID2_ENST00000510992.1_Silent_p.N876N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	971	Interaction with AP4M1 (By similarity).				glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	GGGCACCTAATGGGGGCTTTT	0.498													C	94693538	T	C	94693538	2	2	364	1	0	0	0	0	0	0	0	1	6827	1461	51	3		3	GRID2	4	94693538	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	139	94693538	96460738	3955	27457											
SMARCAD1	56916	broad.mit.edu	37	chr4	95147396	95147396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgtcgtttccccaaattGctccaatacagttcaagaga	13	11	7	10	1	1	2	1	0	0	2	4	3	3	2	3	0	2	3	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95147396G>A	ENST00000354268.4	+	3	390	c.317G>A	c.(316-318)tGc>tAc	p.C106Y	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.C106Y			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	106					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		TCCCCAAATTGCTCCAATACA	0.303													A	95147396	G	A	95147396	3	1	364	1	0	0	0	0	1	0	0	0	14866	1319	46	2	323	2	SMARCAD1	4	95147396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	453858	95147396	96006880	3956	27458											
SMARCAD1	56916	broad.mit.edu	37	chr4	95173878	95173878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaaacagaaattttcaaTgaaagcacaaaatggcttta	20	10	5	6	0	1	2	1	1	0	1	1	2	1	2	0	1	2	2	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95173878T>C	ENST00000354268.4	+	9	1074	c.1001T>C	c.(1000-1002)aTg>aCg	p.M334T	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.M334T			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	334					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AAATTTTCAATGAAAGCACAA	0.308													C	95173878	T	C	95173878	3	2	364	1	0	0	0	0	1	0	0	0	14866	1464	51	3	1031	3	SMARCAD1	4	95173878	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26482	95173878	95980398	3957	27459											
SMARCAD1	56916	broad.mit.edu	37	chr4	95185933	95185933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaacactgatccaagaaagaGatgtagttataaggcttatg	17	10	9	5	0	0	3	0	1	0	2	1	4	1	3	1	1	1	3	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95185933G>A	ENST00000354268.4	+	10	1430	c.1357G>A	c.(1357-1359)Gat>Aat	p.D453N	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.D453N|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.D23N			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	453					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CCAAGAAAGAGATGTAGTTAT	0.323													A	95185933	G	A	95185933	3	1	364	1	0	0	0	0	1	0	0	0	14866	942	33	2	1391	2	SMARCAD1	4	95185933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12055	95185933	95968343	3958	27460											
SMARCAD1	56916	broad.mit.edu	37	chr4	95210632	95210632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgacctacaggtgatgaaGggagtatgccagcagatata	13	9	12	7	0	1	4	0	3	1	1	1	5	1	5	2	2	3	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95210632G>T	ENST00000354268.4	+	24	3101	c.3028G>T	c.(3028-3030)Ggg>Tgg	p.G1010W	SMARCAD1_ENST00000457823.2_Missense_Mutation_p.G1012W|SMARCAD1_ENST00000509418.1_Missense_Mutation_p.G580W			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	1010	Helicase C-terminal.				chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity	p.G1010W(1)		breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		AGGTGATGAAGGGAGTATGCC	0.313													T	95210632	G	T	95210632	3	4	364	1	0	0	0	0	1	0	0	0	14866	1000	35	4	3124	4	SMARCAD1	4	95210632	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24699	95210632	95943644	3959	27461											
HPGDS	27306	broad.mit.edu	37	chr4	95255669	95255669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatttgatttcaggccagtCagcttgttctattctgtggt	6	18	10	7	0	4	2	2	2	2	0	4	2	4	2	1	2	1	2	1	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:95255669C>T	ENST00000295256.5	-	2	202	c.112G>A	c.(112-114)Gac>Aac	p.D38N	HPGDS_ENST00000514774.1_5'UTR	NM_014485.2	NP_055300.1	O60760	HPGDS_HUMAN	hematopoietic prostaglandin D synthase	38	GST N-terminal.				locomotory behavior|prostaglandin biosynthetic process|signal transduction	cytoplasm|nucleus	calcium ion binding|glutathione transferase activity|magnesium ion binding|prostaglandin-D synthase activity|protein homodimerization activity			breast(1)|cervix(1)|lung(3)|ovary(1)|urinary_tract(1)	7					Glutathione(DB00143)	TCAGGCCAGTCAGCTTGTTCT	0.318													T	95255669	C	T	95255669	3	4	364	1	0	0	0	0	1	0	0	0	7390	826	29	2	507	2	HPGDS	4	95255669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45037	95255669	95898607	3960	27462											
UNC5C	8633	broad.mit.edu	37	chr4	96222898	96222898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctcacttcccggacaatgaGacctgacaagagaaaaagaa	17	5	9	10	1	1	4	1	2	0	3	2	7	2	5	2	1	0	1	2	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96222898G>A	ENST00000453304.1	-	3	697	c.349C>T	c.(349-351)Ctc>Ttc	p.L117F	UNC5C_ENST00000504962.1_Missense_Mutation_p.L117F|UNC5C_ENST00000506749.1_Missense_Mutation_p.L117F	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	117	Ig-like.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CGGACAATGAGACCTGACAAG	0.433													A	96222898	G	A	96222898	3	1	364	1	0	0	0	0	1	0	0	0	17095	942	33	2	2502	2	UNC5C	4	96222898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	967229	96222898	94931378	3961	27463											
PDHA2	5161	broad.mit.edu	37	chr4	96761689	96761689	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcggggactttctgtcCgatccattctcgcagagctg	7	12	10	12	3	2	1	0	0	2	1	6	3	4	2	2	2	2	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761689C>T	ENST00000295266.4	+	1	451	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	130					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ACTTTCTGTCCGATCCATTCT	0.512													T	96761689	C	T	96761689	4	4	364	1	0	0	0	0	0	1	0	0	11741	644	23	1	390	1	PDHA2	4	96761689	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	538791	96761689	94392587	3962	27464											
PDHA2	5161	broad.mit.edu	37	chr4	96761711	96761711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccattctcgcagagctgaCgggaagaagaggaggttgtg	11	8	15	7	2	1	4	0	1	1	3	3	6	2	6	1	3	1	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:96761711C>T	ENST00000295266.4	+	1	473	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	137					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	p.T137M(1)		NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	GCAGAGCTGACGGGAAGAAGA	0.527													T	96761711	C	T	96761711	3	4	364	1	0	0	0	0	1	0	0	0	11741	536	19	1	412	1	PDHA2	4	96761711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	96761711	94392565	3963	27465											
TSPAN5	10098	broad.mit.edu	37	chr4	99403289	99403289	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctagaactccggcagtgAgctccaggaagaaaataatt	15	8	10	8	1	0	3	0	1	0	2	2	4	2	4	2	2	3	3	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99403289A>G	ENST00000305798.3	-	4	719	c.317T>C	c.(316-318)cTc>cCc	p.L106P	TSPAN5_ENST00000505184.1_Missense_Mutation_p.L35P|TSPAN5_ENST00000509168.1_5'UTR	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	106						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		TCCGGCAGTGAGCTCCAGGAA	0.363													G	99403289	A	G	99403289	3	3	364	1	0	0	0	0	1	0	0	0	16751	304	11	3	509	3	TSPAN5	4	99403289	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2641578	99403289	91750987	3964	27466											
EIF4E	1977	broad.mit.edu	37	chr4	99812406	99812406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcccaaaagtcttcaacaGtatcaaacttggagatcagc	15	8	7	11	1	4	1	3	0	1	1	4	2	4	1	1	1	3	1	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:99812406G>T	ENST00000450253.2	-	3	1727	c.203C>A	c.(202-204)aCt>aAt	p.T68N	EIF4E_ENST00000280892.6_Missense_Mutation_p.T88N|EIF4E_ENST00000504432.1_Missense_Mutation_p.T96N|EIF4E_ENST00000505992.1_Missense_Mutation_p.T68N	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	68					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		GTCTTCAACAGTATCAAACTT	0.318													T	99812406	G	T	99812406	3	4	364	1	0	0	0	0	1	0	0	0	5069	1029	36	4	567	4	EIF4E	4	99812406	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	409117	99812406	91341870	3965	27467											
ADH5	128	broad.mit.edu	37	chr4	100002577	100002577	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgcattctccacactgtgGgatgtaaagtgggatgacag	10	12	12	7	0	1	1	0	1	1	0	2	3	1	3	1	2	1	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100002577G>T	ENST00000296412.8	-	4	333	c.283C>A	c.(283-285)Cca>Aca	p.P95T	ADH5_ENST00000512991.1_5'UTR	NM_000671.3	NP_000662.3	P11766	ADHX_HUMAN	alcohol dehydrogenase 5 (class III), chi polypeptide	95					ethanol oxidation|response to redox state		alcohol dehydrogenase (NAD) activity|electron carrier activity|fatty acid binding|formaldehyde dehydrogenase activity|S-(hydroxymethyl)glutathione dehydrogenase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.5e-07)	NADH(DB00157)	CCACACTGTGGGATGTAAAGT	0.358													T	100002577	G	T	100002577	3	4	364	1	0	0	0	0	1	0	0	0	311	1232	43	4	865	4	ADH5	4	100002577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190171	100002577	91151699	3966	27468											
ADH6	130	broad.mit.edu	37	chr4	100129858	100129858	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaatggcctcaaagcaGaagtctataccagcatctgt	12	11	7	11	0	3	1	1	0	2	1	4	1	4	1	3	1	3	2	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100129858G>T	ENST00000394897.1	-	6	877	c.795C>A	c.(793-795)ttC>ttA	p.F265L	ADH6_ENST00000237653.7_Missense_Mutation_p.F265L|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Missense_Mutation_p.F56L|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.F265L|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	265					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CCTCAAAGCAGAAGTCTATAC	0.398													T	100129858	G	T	100129858	3	4	364	1	0	0	0	0	1	0	0	0	312	933	33	4	352	4	ADH6	4	100129858	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127281	100129858	91024418	3967	27469											
ADH6	130	broad.mit.edu	37	chr4	100131284	100131284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacccagtggaaaagccacaGctaattaggcatactttctc	14	9	7	11	0	1	0	0	0	1	0	2	1	1	1	2	2	4	2	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131284G>T	ENST00000394897.1	-	5	604	c.522C>A	c.(520-522)agC>agA	p.S174R	ADH6_ENST00000237653.7_Missense_Mutation_p.S174R|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.S174R|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	174					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	AAAAGCCACAGCTAATTAGGC	0.433													T	100131284	G	T	100131284	3	4	364	1	0	0	0	0	1	0	0	0	312	962	34	4	629	4	ADH6	4	100131284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1426	100131284	91022992	3968	27470											
ADH6	130	broad.mit.edu	37	chr4	100131373	100131373	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtattcacagaaggtgcTggtattaccaaagtgatata	13	13	10	5	0	1	2	1	1	0	1	1	2	1	2	1	2	2	3	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100131373T>A	ENST00000394897.1	-	5	515	c.433A>T	c.(433-435)Agc>Tgc	p.S145C	ADH6_ENST00000237653.7_Missense_Mutation_p.S145C|ADH6_ENST00000504257.1_5'UTR|ADH6_ENST00000407820.2_Intron|RP11-696N14.1_ENST00000506160.1_RNA|RP11-696N14.1_ENST00000506454.1_RNA|ADH6_ENST00000394899.2_Missense_Mutation_p.S145C|RP11-696N14.1_ENST00000500358.2_RNA			P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	145					ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)|NADH(DB00157)	CAGAAGGTGCTGGTATTACCA	0.398													A	100131373	T	A	100131373	3	1	364	1	0	0	0	0	1	0	0	0	312	1580	55	5	718	5	ADH6	4	100131373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89	100131373	91022903	3969	27471											
ADH7	131	broad.mit.edu	37	chr4	100349736	100349736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggaaacttggacaccaTtgttccttttatcacatggt	10	14	7	10	0	1	0	1	0	0	0	2	2	2	2	2	3	1	1	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100349736T>C	ENST00000437033.2	-	3	675	c.172A>G	c.(172-174)Atg>Gtg	p.M58V	ADH7_ENST00000476959.1_Missense_Mutation_p.M78V|ADH7_ENST00000209665.4_Missense_Mutation_p.M70V|ADH7_ENST00000482593.1_Start_Codon_SNP_p.M1V			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	70					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	TTGGACACCATTGTTCCTTTT	0.433													C	100349736	T	C	100349736	3	2	364	1	0	0	0	0	1	0	0	0	313	1493	52	3	980	3	ADH7	4	100349736	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	218363	100349736	90804540	3970	27472											
C4orf17	84103	broad.mit.edu	37	chr4	100445677	100445677	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcctcaattttatttcaGagcccagtagaaaaattaaa	15	15	4	7	0	2	2	2	0	0	2	3	2	3	2	2	0	1	1	2	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100445677G>T	ENST00000514652.1	+	4	691		c.e4-1		C4orf17_ENST00000326581.4_Splice_Site|C4orf17_ENST00000503257.1_Splice_Site			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		TTTTATTTCAGAGCCCAGTAG	0.289													T	100445677	G	T	100445677	5	4	364	1	0	0	0	0	0	0	1	0	2274	956	33	4	347	4	C4orf17	4	100445677	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95941	100445677	90708599	3971	27473											
C4orf17	84103	broad.mit.edu	37	chr4	100451060	100451060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatgacaagtaccaagaAtgatgtgaaagcaaacacca	19	5	10	7	0	0	4	0	3	0	1	0	5	0	5	2	1	3	2	2	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100451060A>G	ENST00000514652.1	+	5	845	c.491A>G	c.(490-492)aAt>aGt	p.N164S	C4orf17_ENST00000326581.4_Missense_Mutation_p.N164S|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	164										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		AGTACCAAGAATGATGTGAAA	0.393													G	100451060	A	G	100451060	3	3	364	1	0	0	0	0	1	0	0	0	2274	101	4	3	505	3	C4orf17	4	100451060	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5383	100451060	90703216	3972	27474											
MTTP	4547	broad.mit.edu	37	chr4	100543915	100543915	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaagcgtattagcaggAtgtgaattcccgctccatca	14	9	9	9	2	1	2	1	1	0	1	3	3	3	3	2	1	2	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:100543915A>G	ENST00000457717.1	+	19	2851	c.2595A>G	c.(2593-2595)ggA>ggG	p.G865G	RP11-766F14.1_ENST00000508578.1_RNA|MTTP_ENST00000265517.5_Silent_p.G865G|MTTP_ENST00000511045.1_Silent_p.G892G	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	865					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TATTAGCAGGATGTGAATTCC	0.458													G	100543915	A	G	100543915	2	3	364	1	0	0	0	0	0	0	0	1	10040	320	12	3		3	MTTP	4	100543915	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	92855	100543915	90610361	3973	27475											
PPP3CA	5530	broad.mit.edu	37	chr4	101947077	101947077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgtgccgttagtctctgagGtgagagccttgttgatggag	6	12	15	8	2	1	3	0	3	1	1	2	5	1	4	3	2	2	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:101947077G>T	ENST00000394854.3	-	14	2194	c.1511C>A	c.(1510-1512)aCc>aAc	p.T504N	PPP3CA_ENST00000323055.6_Missense_Mutation_p.T452N|PPP3CA_ENST00000394853.4_Missense_Mutation_p.T494N|PPP3CA_ENST00000507176.1_Missense_Mutation_p.T406N|PPP3CA_ENST00000512215.1_Missense_Mutation_p.T272N|PPP3CA_ENST00000523694.2_Missense_Mutation_p.T437N	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	504					protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		AGTCTCTGAGGTGAGAGCCTT	0.448													T	101947077	G	T	101947077	3	4	364	1	0	0	0	0	1	0	0	0	12479	1261	44	4	58	4	PPP3CA	4	101947077	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1403162	101947077	89207199	3974	27476											
NFKB1	4790	broad.mit.edu	37	chr4	103528372	103528372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgctgctgctggtggccGctggggctgacgtcaatgct	3	12	16	10	2	1	1	1	1	0	0	1	1	1	1	1	4	4	7	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528372G>A	ENST00000226574.4	+	18	2487	c.2020G>A	c.(2020-2022)Gct>Act	p.A674T	NFKB1_ENST00000394820.4_Missense_Mutation_p.A673T|NFKB1_ENST00000600343.1_Missense_Mutation_p.A493T|NFKB1_ENST00000505458.1_Missense_Mutation_p.A673T	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	673	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GCTGGTGGCCGCTGGGGCTGA	0.577													A	103528372	G	A	103528372	3	1	364	1	0	0	0	0	1	0	0	0	10451	1087	38	1	2086	1	NFKB1	4	103528372	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1581295	103528372	87625904	3975	27477											
NFKB1	4790	broad.mit.edu	37	chr4	103528835	103528835	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtggacagtactacctaCgatggaaccacacccctgca	12	7	8	14	1	0	0	0	0	0	0	0	3	0	2	4	2	5	2	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103528835C>T	ENST00000226574.4	+	19	2621	c.2154C>T	c.(2152-2154)taC>taT	p.Y718Y	NFKB1_ENST00000394820.4_Silent_p.Y717Y|NFKB1_ENST00000600343.1_Silent_p.Y537Y|NFKB1_ENST00000505458.1_Silent_p.Y717Y	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	717	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	GTACTACCTACGATGGAACCA	0.532													T	103528835	C	T	103528835	2	4	364	1	0	0	0	0	0	0	0	1	10451	547	19	1		1	NFKB1	4	103528835	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	463	103528835	87625441	3976	27478											
NFKB1	4790	broad.mit.edu	37	chr4	103537625	103537625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgacagtgtctgcgacagCggcgtggagacatccttccg	8	8	14	11	4	1	2	0	1	1	1	3	4	3	2	2	2	2	0	2	2	0	1	rs113109405		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:103537625C>T	ENST00000226574.4	+	24	3251	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	NFKB1_ENST00000394820.4_Silent_p.S927S|NFKB1_ENST00000600343.1_Silent_p.S747S|NFKB1_ENST00000505458.1_Silent_p.S927S	NM_001165412.1|NM_003998.3	NP_001158884.1|NP_003989.2	P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1	927	Interaction with CFLAR.				anti-apoptosis|apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of calcidiol 1-monooxygenase activity|nerve growth factor receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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|transcription from RNA polymerase II promoter	cytosol|I-kappaB/NF-kappaB complex|mitochondrion|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Dexamethasone(DB01234)|Pranlukast(DB01411)|Thalidomide(DB01041)	TCTGCGACAGCGGCGTGGAGA	0.532													T	103537625	C	T	103537625	2	4	364	1	0	0	0	0	0	0	0	1	10451	767	27	1		1	NFKB1	4	103537625	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8790	103537625	87616651	3977	27479											
BDH2	56898	broad.mit.edu	37	chr4	104017402	104017402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgactttcccatcaaGtcgacccataatggaacctg	12	10	8	11	1	1	2	1	2	0	0	3	5	2	3	3	1	1	0	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104017402G>A	ENST00000296424.4	-	2	130	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F		NM_020139.3	NP_064524.3	Q9BUT1	BDH2_HUMAN	3-hydroxybutyrate dehydrogenase, type 2	4					fatty acid beta-oxidation|heme metabolic process|iron ion homeostasis|siderophore biosynthetic process	cytoplasm	3-hydroxybutyrate dehydrogenase activity|NAD binding|oxidoreductase activity, acting on the CH-CH group of donors, NAD or NADP as acceptor			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.02e-08)		TTCCCATCAAGTCGACCCATA	0.423													A	104017402	G	A	104017402	3	1	364	1	0	0	0	0	1	0	0	0	1396	1029	36	2	763	2	BDH2	4	104017402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479777	104017402	87136874	3978	27480											
CENPE	1062	broad.mit.edu	37	chr4	104053958	104053959	+	Frame_Shift_Ins	INS	-	-	A																															gagtatttaaccactcttccINSaaaaactgtgtcatttcttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104053958_104053959insA	ENST00000265148.3	-	42	6904_6905	c.6815_6816insT	c.(6814-6816)ttgfs	p.L2272fs	CENPE_ENST00000380026.3_Frame_Shift_Ins_p.L2151fs	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2272	Kinetochore-binding domain.				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACCACTCTTCCAAAAACTGTGT	0.312													A	104053959	-	A	104053958	7	5	364	1	0	1	1	0	0	0	0	0	3260	593	21	0	1321	0	CENPE	4	104053958	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	36556	104053958	87100318	3979	27481											
CENPE	1062	broad.mit.edu	37	chr4	104080348	104080348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttataattcgactgtgtaGttgctaggtcatcttttgtt	7	21	8	5	1	2	0	1	0	1	0	3	1	2	0	0	1	1	4	0	1	4	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:104080348G>A	ENST00000265148.3	-	22	2509	c.2420C>T	c.(2419-2421)aCt>aTt	p.T807I	CENPE_ENST00000380026.3_Missense_Mutation_p.T782I	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	807					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		CGACTGTGTAGTTGCTAGGTC	0.333													A	104080348	G	A	104080348	3	1	364	1	0	0	0	0	1	0	0	0	3260	1029	36	2	5797	2	CENPE	4	104080348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26390	104080348	87073928	3980	27482											
TET2	54790	broad.mit.edu	37	chr4	106155088	106155088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagccttgtggatggccccGaagcaagcctgatggaacag	10	6	14	11	1	0	1	0	1	0	0	0	4	0	3	4	3	4	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155088G>A	ENST00000513237.1	+	3	849	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	TET2_ENST00000413648.2_5'UTR|TET2_ENST00000540549.1_5'UTR|TET2_ENST00000380013.4_5'UTR|TET2_ENST00000305737.2_5'UTR|TET2_ENST00000394764.1_5'UTR|TET2_ENST00000545826.1_5'UTR			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	0					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		GGATGGCCCCGAAGCAAGCCT	0.413			"Mis N, F"		MDS								A	106155088	G	A	106155088	3	1	364	1	0	0	0	0	1	0	0	0	15870	1073	37	1		1	TET2	4	106155088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2074740	106155088	84999188	3981	27483											
TET2	54790	broad.mit.edu	37	chr4	106155691	106155691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaccatgacaagaacattGtattacttaaaaacaaggca	19	10	5	7	0	0	2	0	1	0	1	0	2	0	2	1	1	4	2	1	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106155691G>A	ENST00000513237.1	+	3	1452	c.655G>A	c.(655-657)Gta>Ata	p.V219I	TET2_ENST00000413648.2_Missense_Mutation_p.V198I|TET2_ENST00000540549.1_Missense_Mutation_p.V198I|TET2_ENST00000380013.4_Missense_Mutation_p.V198I|TET2_ENST00000305737.2_Missense_Mutation_p.V198I|TET2_ENST00000394764.1_Missense_Mutation_p.V198I|TET2_ENST00000545826.1_Missense_Mutation_p.V198I			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	198					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CAAGAACATTGTATTACTTAA	0.428			"Mis N, F"		MDS								A	106155691	G	A	106155691	3	1	364	1	0	0	0	0	1	0	0	0	15870	1377	48	2	594	2	TET2	4	106155691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	603	106155691	84998585	3982	27484											
TET2	54790	broad.mit.edu	37	chr4	106158447	106158447	+	Frame_Shift_Del	DEL	A	A	-																															aaattactagatactcctatAaaaaatttattggatacacc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106158447delA	ENST00000513237.1	+	3	4208	c.3411delA	c.(3409-3411)atafs	p.I1137fs	TET2_ENST00000380013.4_Frame_Shift_Del_p.I1116fs|TET2_ENST00000413648.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000394764.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000545826.1_Frame_Shift_Del_p.I1116fs|TET2_ENST00000305737.2_Frame_Shift_Del_p.I1116fs|TET2_ENST00000540549.1_Frame_Shift_Del_p.I1116fs			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	1116					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ATACTCCTATAAAAAATTTAT	0.363			"Mis N, F"		MDS								-	106158447	A	-	106158447	7	5	364	1	0	1	0	1	0	0	0	0	15870	352	13	0	3350	0	TET2	4	106158447	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	2756	106158447	84995829	3983	27485											
GSTCD	79807	broad.mit.edu	37	chr4	106640343	106640343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctagagaaaaagcttagtGagcctgttagagtgcataat	15	10	11	5	0	0	3	0	1	0	2	0	4	0	3	1	0	4	4	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106640343G>A	ENST00000515279.1	+	3	773	c.553G>A	c.(553-555)Gag>Aag	p.E185K	GSTCD_ENST00000394730.3_Missense_Mutation_p.E98K|GSTCD_ENST00000360505.5_Missense_Mutation_p.E185K|GSTCD_ENST00000515255.1_Intron|GSTCD_ENST00000394728.3_Missense_Mutation_p.E185K|GSTCD_ENST00000507281.1_Missense_Mutation_p.E98K			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	185	GST C-terminal.					cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		AAAGCTTAGTGAGCCTGTTAG	0.453													A	106640343	G	A	106640343	3	1	364	1	0	0	0	0	1	0	0	0	6890	1291	45	2	559	2	GSTCD	4	106640343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	481896	106640343	84513933	3984	27486											
GSTCD	79807	broad.mit.edu	37	chr4	106766643	106766643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggatcgagcaagagctgCagaagaatgtggatactccg	12	8	13	8	2	1	3	0	0	1	3	3	6	2	5	1	2	4	3	1	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:106766643C>T	ENST00000515279.1	+	12	2031	c.1811C>T	c.(1810-1812)gCa>gTa	p.A604V	GSTCD_ENST00000394728.3_Missense_Mutation_p.A604V|GSTCD_ENST00000360505.5_Missense_Mutation_p.A604V|GSTCD_ENST00000394730.3_Missense_Mutation_p.A517V|GSTCD_ENST00000515255.1_3'UTR			Q8NEC7	GSTCD_HUMAN	glutathione S-transferase, C-terminal domain containing	604						cytoplasm	rRNA methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	14		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.15e-07)|READ - Rectum adenocarcinoma(30;0.139)		GCAAGAGCTGCAGAAGAATGT	0.448													T	106766643	C	T	106766643	3	4	364	1	0	0	0	0	1	0	0	0	6890	710	25	2	1853	2	GSTCD	4	106766643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126300	106766643	84387633	3985	27487											
AIMP1	9255	broad.mit.edu	37	chr4	107253040	107253040	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcatgttcctcttgaacaGgtaatctgtacaactgaaat	14	13	6	8	0	3	2	1	2	2	0	4	2	4	2	1	1	3	3	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:107253040G>T	ENST00000394701.4	+	5	716	c.675G>T	c.(673-675)caG>caT	p.Q225H	AIMP1_ENST00000442366.1_Splice_Site_p.Q201H|AIMP1_ENST00000358008.3_Splice_Site_p.Q201H	NM_001142416.1	NP_001135888.1	Q12904	AIMP1_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 1	201	tRNA-binding.				angiogenesis|apoptosis|cell adhesion|cell-cell signaling|chemotaxis|glucose metabolic process|inflammatory response|leukocyte migration|negative regulation of endothelial cell proliferation|signal transduction|tRNA aminoacylation for protein translation	aminoacyl-tRNA synthetase multienzyme complex|cytosol|endoplasmic reticulum|extracellular space|Golgi apparatus|nucleus|transport vesicle	cell surface binding|cytokine activity|protein homodimerization activity|tRNA binding			breast(1)|endometrium(2)|kidney(1)|lung(5)|skin(1)|urinary_tract(1)	11						CTCTTGAACAGGTAATCTGTA	0.393													T	107253040	G	T	107253040	5	4	364	1	0	0	0	0	0	0	1	0	433	1014	35	4	693	4	AIMP1	4	107253040	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	486397	107253040	83901236	3986	27488											
SGMS2	166929	broad.mit.edu	37	chr4	108829850	108829850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcttattatatcacaacacGactgttttggtggtaccatt	10	16	7	8	1	1	0	1	0	0	0	1	1	1	0	1	2	3	3	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108829850G>A	ENST00000394684.4	+	6	1414	c.857G>A	c.(856-858)cGa>cAa	p.R286Q	SGMS2_ENST00000359079.4_Missense_Mutation_p.R286Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.R286Q|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	286					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ATCACAACACGACTGTTTTGG	0.423													A	108829850	G	A	108829850	3	1	364	1	0	0	0	0	1	0	0	0	14308	1058	37	1	871	1	SGMS2	4	108829850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1576810	108829850	82324426	3987	27489											
SGMS2	166929	broad.mit.edu	37	chr4	108831512	108831512	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaccatttacagaacttgAaggtctcttcacagactaat	13	13	5	10	0	3	3	1	1	2	2	4	3	3	3	1	1	3	0	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108831512A>C	ENST00000394684.4	+	7	1458	c.901A>C	c.(901-903)Aag>Cag	p.K301Q	SGMS2_ENST00000359079.4_Missense_Mutation_p.K301Q|SGMS2_ENST00000394686.3_Missense_Mutation_p.K301Q|RP11-286E11.1_ENST00000513071.1_RNA|RP11-286E11.1_ENST00000499098.1_RNA	NM_001136258.1	NP_001129730.1	Q8NHU3	SMS2_HUMAN	sphingomyelin synthase 2	301					sphingomyelin biosynthetic process	integral to Golgi membrane|integral to plasma membrane	ceramide cholinephosphotransferase activity|kinase activity|sphingomyelin synthase activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|liver(2)|lung(6)|prostate(1)	20				OV - Ovarian serous cystadenocarcinoma(123;2.95e-05)	Choline(DB00122)	ACAGAACTTGAAGGTCTCTTC	0.338													C	108831512	A	C	108831512	3	2	364	1	0	0	0	0	1	0	0	0	14308	247	9	5	919	5	SGMS2	4	108831512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1662	108831512	82322764	3988	27490											
CYP2U1	113612	broad.mit.edu	37	chr4	108871448	108871448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaaagatggaattattcCtaatgtttgtgagcctaatg	12	14	10	5	0	0	2	0	1	0	1	1	3	1	3	2	2	1	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:108871448C>A	ENST00000332884.6	+	5	1779	c.1504C>A	c.(1504-1506)Cta>Ata	p.L502I	CYP2U1_ENST00000508453.1_Missense_Mutation_p.L293I|RP11-286E11.1_ENST00000513071.1_RNA	NM_183075.2	NP_898898.1	Q7Z449	CP2U1_HUMAN	cytochrome P450, family 2, subfamily U, polypeptide 1	502					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|large_intestine(2)|lung(4)|skin(2)|urinary_tract(1)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000128)		GGAATTATTCCTAATGTTTGT	0.413													A	108871448	C	A	108871448	3	1	364	1	0	0	0	0	1	0	0	0	4208	680	24	4	1522	4	CYP2U1	4	108871448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39936	108871448	82282828	3989	27491											
LEF1	51176	broad.mit.edu	37	chr4	109084772	109084772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatttgacatgtatgggtcGttattcatatttggcatcat	9	17	8	7	1	2	1	2	1	0	0	3	1	2	1	1	2	0	3	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109084772G>A	ENST00000379951.2	-	3	1554	c.366C>T	c.(364-366)aaC>aaT	p.N122N	LEF1_ENST00000438313.2_Silent_p.N122N|LEF1_ENST00000265165.1_Silent_p.N122N|LEF1_ENST00000510624.1_Silent_p.N54N|LEF1_ENST00000512172.1_Silent_p.N54N	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1	122	Pro-rich.				canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		TGTATGGGTCGTTATTCATAT	0.428													A	109084772	G	A	109084772	2	1	364	1	0	0	0	0	0	0	0	1	8773	1136	40	1		1	LEF1	4	109084772	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213324	109084772	82069504	3990	27492											
COL25A1	84570	broad.mit.edu	37	chr4	109748331	109748331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtccaggctctcccataGctcctttttcaccctaaaat	8	14	5	14	0	2	0	1	0	1	0	5	0	4	0	4	2	1	2	4	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:109748331G>A	ENST00000399132.1	-	33	2254	c.1724C>T	c.(1723-1725)gCt>gTt	p.A575V	COL25A1_ENST00000399127.1_Missense_Mutation_p.A587V|COL25A1_ENST00000399126.1_Missense_Mutation_p.A575V	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	575	Collagen-like 7.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTCTCCCATAGCTCCTTTTTC	0.483													A	109748331	G	A	109748331	3	1	364	1	0	0	0	0	1	0	0	0	3715	971	34	2	348	2	COL25A1	4	109748331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	663559	109748331	81405945	3991	27493											
SEC24B	10427	broad.mit.edu	37	chr4	110415857	110415857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccagctccagcttcagctCcagctcctgtcgtccctcag	5	10	7	19	1	2	0	2	0	0	0	8	0	7	0	5	0	4	4	5	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110415857C>T	ENST00000265175.5	+	6	1388	c.1333C>T	c.(1333-1335)Cca>Tca	p.P445S	SEC24B_ENST00000504968.2_Missense_Mutation_p.P476S|SEC24B_ENST00000399100.2_Missense_Mutation_p.P410S	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	445					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		AGCTTCAGCTCCAGCTCCTGT	0.493													T	110415857	C	T	110415857	3	4	364	1	0	0	0	0	1	0	0	0	14088	855	30	2	1355	2	SEC24B	4	110415857	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	667526	110415857	80738419	3992	27494											
SEC24B	10427	broad.mit.edu	37	chr4	110431221	110431221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggctttactgaataaagCtaagcttcctttaggattgt	12	14	8	7	0	0	1	0	1	0	0	1	2	1	2	1	2	3	3	1	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110431221C>T	ENST00000265175.5	+	8	1785	c.1730C>T	c.(1729-1731)gCt>gTt	p.A577V	SEC24B_ENST00000504968.2_Missense_Mutation_p.A607V|SEC24B_ENST00000399100.2_Missense_Mutation_p.A542V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	577					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		CTGAATAAAGCTAAGCTTCCT	0.343													T	110431221	C	T	110431221	3	4	364	1	0	0	0	0	1	0	0	0	14088	797	28	2	1760	2	SEC24B	4	110431221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15364	110431221	80723055	3993	27495											
SEC24B	10427	broad.mit.edu	37	chr4	110446649	110446649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgttatgagaataaGgtgtactaaaggtatgaagt	15	12	12	2	0	0	3	0	3	0	1	0	4	0	3	0	2	2	4	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110446649G>T	ENST00000265175.5	+	16	2835	c.2780G>T	c.(2779-2781)aGg>aTg	p.R927M	SEC24B_ENST00000504968.2_Missense_Mutation_p.R957M|SEC24B_ENST00000399100.2_Missense_Mutation_p.R892M	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	927					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		ATGAGAATAAGGTGTACTAAA	0.323													T	110446649	G	T	110446649	3	4	364	1	0	0	0	0	1	0	0	0	14088	1000	35	4	2842	4	SEC24B	4	110446649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15428	110446649	80707627	3994	27496											
SEC24B	10427	broad.mit.edu	37	chr4	110452580	110452580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caagcacacggctggatgatCgtgtatatgccatgtgtcag	10	10	12	9	2	1	1	1	1	0	0	2	2	1	2	1	2	2	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110452580C>T	ENST00000265175.5	+	20	3347	c.3292C>T	c.(3292-3294)Cgt>Tgt	p.R1098C	SEC24B_ENST00000504968.2_Missense_Mutation_p.R1128C|SEC24B_ENST00000399100.2_Missense_Mutation_p.R1063C	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	1098					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GCTGGATGATCGTGTATATGC	0.358													T	110452580	C	T	110452580	3	4	364	1	0	0	0	0	1	0	0	0	14088	884	31	1	3370	1	SEC24B	4	110452580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5931	110452580	80701696	3995	27497											
CCDC109B	55013	broad.mit.edu	37	chr4	110608696	110608696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatccctgaaacaggcgcGtcattctctctgtttgcaaa	11	11	8	11	2	3	2	1	1	2	1	5	2	4	2	1	1	2	2	1	1	3	2	rs144584495	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110608696G>A	ENST00000394650.4	+	8	1092	c.959G>A	c.(958-960)cGt>cAt	p.R320H		NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	320						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		AAACAGGCGCGTCATTCTCTC	0.353													A	110608696	G	A	110608696	3	1	364	1	0	0	0	0	1	0	0	0	2771	1145	40	1	989	1	CCDC109B	4	110608696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156116	110608696	80545580	3996	27498											
LRIT3	345193	broad.mit.edu	37	chr4	110790846	110790846	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcagatggtccataatgaGcttgacaggcatttcttcca	11	12	9	9	0	2	3	1	2	1	1	4	3	4	3	2	2	1	2	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110790846G>T	ENST00000327908.3	+	4	1156	c.392G>T	c.(391-393)aGc>aTc	p.S131I	LRIT3_ENST00000379920.3_Missense_Mutation_p.S269I|LRIT3_ENST00000594814.1_Missense_Mutation_p.S314I|LRIT3_ENST00000409621.2_Missense_Mutation_p.S131I			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	269						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TCCATAATGAGCTTGACAGGC	0.433													T	110790846	G	T	110790846	3	4	364	1	0	0	0	0	1	0	0	0	9019	971	34	4	816	4	LRIT3	4	110790846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182150	110790846	80363430	3997	27499											
LRIT3	345193	broad.mit.edu	37	chr4	110791214	110791214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcagcaagtaccaccatgGccaacaagcgatcattccag	13	7	7	14	1	2	0	2	0	1	0	4	1	3	0	4	1	4	2	4	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791214G>A	ENST00000327908.3	+	4	1524	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	LRIT3_ENST00000379920.3_Missense_Mutation_p.A392T|LRIT3_ENST00000594814.1_Missense_Mutation_p.A437T|LRIT3_ENST00000409621.2_Missense_Mutation_p.A254T			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	392	Ig-like.					integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		TACCACCATGGCCAACAAGCG	0.468													A	110791214	G	A	110791214	3	1	364	1	0	0	0	0	1	0	0	0	9019	1203	42	2	1184	2	LRIT3	4	110791214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368	110791214	80363062	3998	27500											
LRIT3	345193	broad.mit.edu	37	chr4	110791385	110791385	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaaacctcagggtggtcAgtgagactaaagagagtgtg	14	8	14	5	0	2	3	2	1	0	3	2	5	2	3	1	2	1	0	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110791385A>G	ENST00000327908.3	+	4	1695	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	LRIT3_ENST00000379920.3_Missense_Mutation_p.S449G|LRIT3_ENST00000594814.1_Missense_Mutation_p.S494G|LRIT3_ENST00000409621.2_Missense_Mutation_p.S311G			Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	449						integral to membrane				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGGGTGGTCAGTGAGACTAA	0.458													G	110791385	A	G	110791385	3	3	364	1	0	0	0	0	1	0	0	0	9019	188	7	3	1355	3	LRIT3	4	110791385	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	171	110791385	80362891	3999	27501											
EGF	1950	broad.mit.edu	37	chr4	110920897	110920897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagtggtgggaactgcGccacgctggccacgggcagc	7	5	16	13	3	0	1	0	1	0	0	0	2	0	2	3	4	3	2	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110920897G>A	ENST00000265171.5	+	21	3513	c.3068G>A	c.(3067-3069)cGc>cAc	p.R1023H	EGF_ENST00000503392.1_Missense_Mutation_p.R982H|EGF_ENST00000509793.1_Missense_Mutation_p.R981H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1023					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGGGAACTGCGCCACGCTGGC	0.597													A	110920897	G	A	110920897	3	1	364	1	0	0	0	0	1	0	0	0	5001	1087	38	1	3150	1	EGF	4	110920897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129512	110920897	80233379	4000	27502											
ELOVL6	79071	broad.mit.edu	37	chr4	110972809	110972809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgaaccaacctcccccGgcaaccatgtctttgtagga	10	9	8	14	1	2	1	1	1	1	0	3	2	3	2	5	2	3	2	5	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:110972809G>A	ENST00000394607.3	-	5	646	c.483C>T	c.(481-483)gcC>gcT	p.A161A	ELOVL6_ENST00000302274.3_Silent_p.A161A			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	161					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		AACCTCCCCCGGCAACCATGT	0.507													A	110972809	G	A	110972809	2	1	364	1	0	0	0	0	0	0	0	1	5119	1103	39	1		1	ELOVL6	4	110972809	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51912	110972809	80181467	4001	27503											
ENPEP	2028	broad.mit.edu	37	chr4	111441427	111441427	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccagacagatgggttaTcctgtgcttaacgtgaacgg	10	10	13	8	2	0	3	0	1	0	2	1	4	1	4	2	3	3	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111441427T>C	ENST00000265162.5	+	10	1974	c.1632T>C	c.(1630-1632)taT>taC	p.Y544Y		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	544					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	AGATGGGTTATCCTGTGCTTA	0.423													C	111441427	T	C	111441427	2	2	364	1	0	0	0	0	0	0	0	1	5169	1442	50	3		3	ENPEP	4	111441427	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	468618	111441427	79712849	4002	27504											
ENPEP	2028	broad.mit.edu	37	chr4	111464190	111464190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattttcttcagcagatcGtgcaagtcttattgatgatg	10	15	9	7	1	3	3	1	2	2	1	4	4	3	3	0	0	2	2	0	0	2	5	rs142728357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111464190G>A	ENST00000265162.5	+	13	2306	c.1964G>A	c.(1963-1965)cGt>cAt	p.R655H		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	655					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TCAGCAGATCGTGCAAGTCTT	0.328													A	111464190	G	A	111464190	3	1	364	1	0	0	0	0	1	0	0	0	5169	1145	40	1	2014	1	ENPEP	4	111464190	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22763	111464190	79690086	4003	27505											
PITX2	5308	broad.mit.edu	37	chr4	111539657	111539657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagttgaagaaggggaagCtcttggtggatagggaggcg	11	8	19	3	1	1	3	0	1	1	2	1	6	1	6	0	6	1	2	0	6	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539657C>T	ENST00000354925.2	-	7	2283	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.S147N|PITX2_ENST00000394598.2_Missense_Mutation_p.S193N|PITX2_ENST00000394595.3_Silent_p.E124E|PITX2_ENST00000306732.3_Missense_Mutation_p.S200N	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	193					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GAAGGGGAAGCTCTTGGTGGA	0.537													T	111539657	C	T	111539657	3	4	364	1	0	0	0	0	1	0	0	0	12032	797	28	2	379	2	PITX2	4	111539657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75467	111539657	79614619	4004	27506											
PITX2	5308	broad.mit.edu	37	chr4	111539701	111539701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaggcccttggcggcccaGttgttgtaggaatagcctgg	7	10	15	9	1	0	0	0	0	0	0	0	1	0	1	3	5	1	4	3	5	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111539701G>T	ENST00000354925.2	-	7	2239	c.534C>A	c.(532-534)aaC>aaA	p.N178K	PITX2_ENST00000556049.1_5'UTR|PITX2_ENST00000355080.5_Missense_Mutation_p.N132K|PITX2_ENST00000394598.2_Missense_Mutation_p.N178K|PITX2_ENST00000394595.3_Missense_Mutation_p.L110M|PITX2_ENST00000306732.3_Missense_Mutation_p.N185K	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	178					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		TGGCGGCCCAGTTGTTGTAGG	0.552													T	111539701	G	T	111539701	3	4	364	1	0	0	0	0	1	0	0	0	12032	1020	36	4	423	4	PITX2	4	111539701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	111539701	79614575	4005	27507											
PITX2	5308	broad.mit.edu	37	chr4	111553567	111553567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcggctctcaggagagTccgtgaactcgacctttttg	6	14	10	11	3	1	2	1	1	1	1	5	4	2	2	2	2	1	1	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:111553567T>C	ENST00000354925.2	-	5	1821	c.116A>G	c.(115-117)gAc>gGc	p.D39G	PITX2_ENST00000355080.5_Intron|PITX2_ENST00000394598.2_Missense_Mutation_p.D39G|PITX2_ENST00000394595.3_Missense_Mutation_p.D39G	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	39					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		CTCAGGAGAGTCCGTGAACTC	0.657													C	111553567	T	C	111553567	3	2	364	1	0	0	0	0	1	0	0	0	12032	1667	58	3	1058	3	PITX2	4	111553567	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13866	111553567	79600709	4006	27508											
NEUROG2	63973	broad.mit.edu	37	chr4	113435853	113435853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggaggtgaggtgcatagCggtgcttgtcgggaggtggg	5	9	23	4	2	0	1	0	1	0	0	1	3	0	3	0	8	3	2	0	8	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113435853C>T	ENST00000313341.3	-	2	1105	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	260					positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		AGGTGCATAGCGGTGCTTGTC	0.607													T	113435853	C	T	113435853	3	4	364	1	0	0	0	0	1	0	0	0	10429	768	27	1	43	1	NEUROG2	4	113435853	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1882286	113435853	77718423	4007	27509											
C4orf21	55345	broad.mit.edu	37	chr4	113530535	113530535	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattttaaataacttacCtgcacagactgaagtggttc	13	15	6	7	0	0	2	0	1	0	1	1	2	0	2	1	1	3	2	1	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113530535C>A	ENST00000505019.1	-	8	2843	c.2718G>T	c.(2716-2718)caG>caT	p.Q906H	C4orf21_ENST00000309071.5_Splice_Site_p.Q906H	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	906										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		AATAACTTACCTGCACAGACT	0.383													A	113530535	C	A	113530535	5	1	364	1	0	0	0	0	0	0	1	0	2276	695	24	4	3680	4	C4orf21	4	113530535	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94682	113530535	77623741	4008	27510											
C4orf21	55345	broad.mit.edu	37	chr4	113540640	113540640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaatccatggcatttctCtccctgttcttgtaagtcac	10	14	6	11	0	3	0	1	0	2	0	6	1	5	0	2	1	0	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:113540640C>T	ENST00000505019.1	-	6	683	c.558G>A	c.(556-558)gaG>gaA	p.E186E	C4orf21_ENST00000309071.5_Silent_p.E186E|C4orf21_ENST00000445203.2_Silent_p.E155E	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	186										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		TGGCATTTCTCTCCCTGTTCT	0.403													T	113540640	C	T	113540640	2	4	364	1	0	0	0	0	0	0	0	1	2276	912	32	2		2	C4orf21	4	113540640	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10105	113540640	77613636	4009	27511											
ANK2	287	broad.mit.edu	37	chr4	114120208	114120208	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgcatctttggctggacaAgcagaagttgtcaaagttct	11	13	10	7	0	3	1	1	0	2	1	3	2	3	2	0	2	2	5	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114120208A>G	ENST00000357077.4	+	4	380	c.327A>G	c.(325-327)caA>caG	p.Q109Q	ANK2_ENST00000506722.1_Silent_p.Q88Q|ANK2_ENST00000394537.3_Silent_p.Q109Q|ANK2_ENST00000264366.6_Silent_p.Q109Q	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	109					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TGGCTGGACAAGCAGAAGTTG	0.353													G	114120208	A	G	114120208	2	3	364	1	0	0	0	0	0	0	0	1	621	69	3	3		3	ANK2	4	114120208	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	579568	114120208	77034068	4010	27512											
ANK2	287	broad.mit.edu	37	chr4	114158192	114158192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggacacaaccaggCggtggccatcctcttggaga	11	5	12	13	1	1	1	0	0	1	1	2	3	2	2	4	5	2	1	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114158192C>T	ENST00000357077.4	+	6	586	c.533C>T	c.(532-534)gCg>gTg	p.A178V	ANK2_ENST00000506722.1_Missense_Mutation_p.A157V|ANK2_ENST00000394537.3_Missense_Mutation_p.A178V|ANK2_ENST00000264366.6_Missense_Mutation_p.A178V	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	178					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding	p.A178E(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		CACAACCAGGCGGTGGCCATC	0.498													T	114158192	C	T	114158192	3	4	364	1	0	0	0	0	1	0	0	0	621	768	27	1	580	1	ANK2	4	114158192	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37984	114158192	76996084	4011	27513											
ANK2	287	broad.mit.edu	37	chr4	114274547	114274547	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggattagttgaagaggaAtgggttattgtcagtgatga	13	12	15	1	0	1	5	1	3	0	2	1	7	1	7	0	3	0	2	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114274547A>G	ENST00000357077.4	+	38	4826	c.4773A>G	c.(4771-4773)gaA>gaG	p.E1591E	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Silent_p.E1558E|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1558					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TTGAAGAGGAATGGGTTATTG	0.403													G	114274547	A	G	114274547	2	3	364	1	0	0	0	0	0	0	0	1	621	98	4	3		3	ANK2	4	114274547	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	116355	114274547	76879729	4012	27514											
ANK2	287	broad.mit.edu	37	chr4	114276477	114276477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctataagcatgaaGgcctagcagagacccctgag	16	5	11	9	0	0	4	0	2	0	2	0	5	0	4	3	1	3	3	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114276477G>T	ENST00000357077.4	+	38	6756	c.6703G>T	c.(6703-6705)Ggc>Tgc	p.G2235C	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2202C|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2202					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCATGAAGGCCTAGCAGA	0.507													T	114276477	G	T	114276477	3	4	364	1	0	0	0	0	1	0	0	0	621	1000	35	4	6918	4	ANK2	4	114276477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1930	114276477	76877799	4013	27515											
ANK2	287	broad.mit.edu	37	chr4	114278095	114278095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagccaaaaatctgtgatgGccatggatgtgaggccatga	12	9	12	8	0	2	3	1	3	1	0	2	4	2	4	3	3	1	0	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114278095G>A	ENST00000357077.4	+	38	8374	c.8321G>A	c.(8320-8322)gGc>gAc	p.G2774D	ANK2_ENST00000506722.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G2741D|ANK2_ENST00000509550.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2741					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTGTGATGGCCATGGATGT	0.488													A	114278095	G	A	114278095	3	1	364	1	0	0	0	0	1	0	0	0	621	1203	42	2	8536	2	ANK2	4	114278095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1618	114278095	76876181	4014	27516											
ANK2	287	broad.mit.edu	37	chr4	114288729	114288729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctgcctttagggttctcGgtacttcaagaggagttatg	8	15	11	7	1	3	1	1	0	2	1	4	2	3	2	1	3	2	3	1	3	4	7	rs72544142		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114288729G>A	ENST00000357077.4	+	42	11093	c.11040G>A	c.(11038-11040)tcG>tcA	p.S3680S	ANK2_ENST00000506722.1_Silent_p.S1586S|ANK2_ENST00000394537.3_Silent_p.S1595S|ANK2_ENST00000510275.2_Silent_p.S247S|ANK2_ENST00000264366.6_Silent_p.S3647S|ANK2_ENST00000509550.1_Silent_p.S771S	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3647					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAGGGTTCTCGGTACTTCAAG	0.363													A	114288729	G	A	114288729	2	1	364	1	0	0	0	0	0	0	0	1	621	1103	39	1		1	ANK2	4	114288729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10634	114288729	76865547	4015	27517											
ANK2	287	broad.mit.edu	37	chr4	114290890	114290890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgcggaaaaccagcctcGtaatagtggagtctgccgat	10	8	11	12	4	1	0	0	0	1	0	3	3	2	2	4	2	3	1	4	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:114290890G>A	ENST00000357077.4	+	43	11592	c.11539G>A	c.(11539-11541)Gta>Ata	p.V3847I	ANK2_ENST00000506722.1_Missense_Mutation_p.V1753I|ANK2_ENST00000394537.3_Missense_Mutation_p.V1762I|ANK2_ENST00000510275.2_Missense_Mutation_p.V414I|ANK2_ENST00000264366.6_Missense_Mutation_p.V3814I|ANK2_ENST00000509550.1_Missense_Mutation_p.V938I	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	3814					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AACCAGCCTCGTAATAGTGGA	0.542													A	114290890	G	A	114290890	3	1	364	1	0	0	0	0	1	0	0	0	621	1145	40	1	11774	1	ANK2	4	114290890	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2161	114290890	76863386	4016	27518											
NDST4	64579	broad.mit.edu	37	chr4	115997817	115997817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataactaaagtatatttccCtttgccattatctgtaagag	14	15	5	7	0	1	1	0	0	1	1	2	1	2	1	2	0	2	2	2	0	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:115997817C>A	ENST00000264363.2	-	2	1054	c.376G>T	c.(376-378)Ggg>Tgg	p.G126W		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	126	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		GTATATTTCCCTTTGCCATTA	0.373													A	115997817	C	A	115997817	3	1	364	1	0	0	0	0	1	0	0	0	10334	681	24	4	2294	4	NDST4	4	115997817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1706927	115997817	75156459	4017	27519											
TRAM1L1	133022	broad.mit.edu	37	chr4	118005516	118005516	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccactccgttttctgttCtttttttagaagatctcgac	6	18	5	12	2	3	2	0	0	3	2	6	3	5	2	2	0	0	2	2	0	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:118005516C>A	ENST00000310754.4	-	1	1220	c.1034G>T	c.(1033-1035)aGa>aTa	p.R345I		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	345					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTCTGTTCTTTTTTTAGA	0.388													A	118005516	C	A	118005516	3	1	364	1	0	0	0	0	1	0	0	0	16553	913	32	4	79	4	TRAM1L1	4	118005516	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2007699	118005516	73148760	4018	27520											
PRSS12	8492	broad.mit.edu	37	chr4	119203986	119203986	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttgattatgccttacCtgtgtcaccccatcctgtta	6	19	5	11	0	1	1	1	1	0	0	2	1	2	1	5	0	2	1	5	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119203986C>A	ENST00000296498.3	-	12	2602	c.2320G>T	c.(2320-2322)Gga>Tga	p.G774*		NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	774	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						TATGCCTTACCTGTGTCACCC	0.433													A	119203986	C	A	119203986	5	1	364	1	0	0	0	0	0	0	1	0	12700	695	24	4	315	4	PRSS12	4	119203986	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1198470	119203986	71950290	4019	27521											
PRSS12	8492	broad.mit.edu	37	chr4	119204261	119204261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catagctcctagtgctgttgCcatacctgagaggcagagag	10	9	12	10	0	0	2	0	1	0	2	1	4	1	2	3	1	4	4	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119204261C>T	ENST00000296498.3	-	12	2327	c.2045G>A	c.(2044-2046)gGc>gAc	p.G682D	PRSS12_ENST00000510903.1_5'UTR	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	682	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						AGTGCTGTTGCCATACCTGAG	0.403													T	119204261	C	T	119204261	3	4	364	1	0	0	0	0	1	0	0	0	12700	739	26	2	590	2	PRSS12	4	119204261	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275	119204261	71950015	4020	27522											
METTL14	57721	broad.mit.edu	37	chr4	119625123	119625123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggttacagaagatgtgaaGatatttgttggattaaaacc	14	12	12	3	0	0	4	0	1	0	3	0	5	0	5	1	3	2	2	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119625123G>T	ENST00000388822.5	+	9	939	c.772G>T	c.(772-774)Gat>Tat	p.D258Y	METTL14_ENST00000506780.1_Missense_Mutation_p.D220Y			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						AAGATGTGAAGATATTTGTTG	0.303													T	119625123	G	T	119625123	3	4	364	1	0	0	0	0	1	0	0	0	9573	942	33	4	806	4	METTL14	4	119625123	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420862	119625123	71529153	4021	27523											
SEC24D	9871	broad.mit.edu	37	chr4	119662179	119662179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgttcaaaaattgttgtCtatccaagtgcatctaaaaa	14	13	7	7	1	3	0	1	0	2	0	5	0	4	0	1	1	1	3	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119662179C>A	ENST00000379735.5	-	16	2283	c.2012G>T	c.(2011-2013)aGa>aTa	p.R671I	SEC24D_ENST00000505134.1_5'UTR|SEC24D_ENST00000419654.2_Missense_Mutation_p.R226I|SEC24D_ENST00000511481.1_Missense_Mutation_p.R301I|SEC24D_ENST00000280551.6_Missense_Mutation_p.R670I|SEC24D_ENST00000429811.2_Missense_Mutation_p.R226I	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	670					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						AAATTGTTGTCTATCCAAGTG	0.308													A	119662179	C	A	119662179	3	1	364	1	0	0	0	0	1	0	0	0	14090	913	32	4	1121	4	SEC24D	4	119662179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37056	119662179	71492097	4022	27524											
SEC24D	9871	broad.mit.edu	37	chr4	119745835	119745835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactgatggggtccaggaGgtgggggacccggaggcaac	10	4	18	9	1	0	1	0	1	0	0	1	4	1	4	2	8	2	1	2	8	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119745835G>T	ENST00000379735.5	-	3	459	c.188C>A	c.(187-189)cCt>cAt	p.P63H	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.P63H	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	63	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GGGTCCAGGAGGTGGGGGACC	0.552													T	119745835	G	T	119745835	3	4	364	1	0	0	0	0	1	0	0	0	14090	1000	35	4	2994	4	SEC24D	4	119745835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83656	119745835	71408441	4023	27525											
SEC24D	9871	broad.mit.edu	37	chr4	119754819	119754819	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggctgaggctgagaataCggaggtgtagccacgtaacc	11	6	14	10	2	0	2	0	2	0	1	0	4	0	3	3	4	3	4	3	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119754819C>T	ENST00000379735.5	-	2	304	c.33G>A	c.(31-33)ccG>ccA	p.P11P	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Silent_p.P11P	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	11	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						GCTGAGAATACGGAGGTGTAG	0.433													T	119754819	C	T	119754819	2	4	364	1	0	0	0	0	0	0	0	1	14090	523	19	1		1	SEC24D	4	119754819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8984	119754819	71399457	4024	27526											
SYNPO2	171024	broad.mit.edu	37	chr4	119951134	119951134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgtttaagaagcgacgtCggagggccaggaaatacacc	13	7	13	8	3	0	2	0	1	0	1	1	5	0	4	2	3	2	1	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951134C>T	ENST00000307142.4	+	4	1400	c.1204C>T	c.(1204-1206)Cgg>Tgg	p.R402W	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R402W|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R402W	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	402	Poly-Arg.					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAAGCGACGTCGGAGGGCCAG	0.507													T	119951134	C	T	119951134	3	4	364	1	0	0	0	0	1	0	0	0	15554	875	31	1	1218	1	SYNPO2	4	119951134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196315	119951134	71203142	4025	27527											
SYNPO2	171024	broad.mit.edu	37	chr4	119951996	119951996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatattgcaggaggccaaaaGgagaagcacgacaaaaccca	19	3	10	9	1	0	1	0	0	0	1	0	4	0	2	2	3	3	2	2	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119951996G>A	ENST00000307142.4	+	4	2262	c.2066G>A	c.(2065-2067)aGg>aAg	p.R689K	SYNPO2_ENST00000434046.2_Missense_Mutation_p.R689K|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.R689K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	689						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GAGGCCAAAAGGAGAAGCACG	0.468													A	119951996	G	A	119951996	3	1	364	1	0	0	0	0	1	0	0	0	15554	1000	35	2	2080	2	SYNPO2	4	119951996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	862	119951996	71202280	4026	27528											
SYNPO2	171024	broad.mit.edu	37	chr4	119952838	119952838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcatgaagcaccaaccgTatcagctcaatgcatccttg	12	10	7	12	1	3	1	3	1	0	0	4	1	4	1	3	0	4	4	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:119952838T>C	ENST00000307142.4	+	4	3104	c.2908T>C	c.(2908-2910)Tat>Cat	p.Y970H	SYNPO2_ENST00000434046.2_Missense_Mutation_p.Y970H|SYNPO2_ENST00000448416.2_Intron|SYNPO2_ENST00000429713.2_Missense_Mutation_p.Y970H	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	970						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						GCACCAACCGTATCAGCTCAA	0.488													C	119952838	T	C	119952838	3	2	364	1	0	0	0	0	1	0	0	0	15554	1638	57	3	2922	3	SYNPO2	4	119952838	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	842	119952838	71201438	4027	27529											
MYOZ2	51778	broad.mit.edu	37	chr4	120072113	120072113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatctcagtaaccgtggtGccaggctatttaagatgcgt	9	11	10	11	2	1	1	1	0	1	1	2	1	1	1	3	2	3	2	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120072113G>A	ENST00000307128.5	+	3	376	c.163G>A	c.(163-165)Gcc>Acc	p.A55T		NM_016599.4	NP_057683.1	Q9NPC6	MYOZ2_HUMAN	myozenin 2	55							protein phosphatase 2B binding			endometrium(1)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						TAACCGTGGTGCCAGGCTATT	0.388													A	120072113	G	A	120072113	3	1	364	1	0	0	0	0	1	0	0	0	10172	1319	46	2	169	2	MYOZ2	4	120072113	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119275	120072113	71082163	4028	27530											
USP53	54532	broad.mit.edu	37	chr4	120177653	120177653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccttttacagaatttgtgCggtacatttctacaacagcc	11	14	6	10	1	1	1	0	0	1	1	1	1	1	1	2	1	7	1	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120177653C>T	ENST00000450251.1	+	5	1088	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W	USP53_ENST00000274030.6_Missense_Mutation_p.R182W			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	182					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						AGAATTTGTGCGGTACATTTC	0.313													T	120177653	C	T	120177653	3	4	364	1	0	0	0	0	1	0	0	0	17186	759	27	1	562	1	USP53	4	120177653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105540	120177653	70976623	4029	27531											
USP53	54532	broad.mit.edu	37	chr4	120181736	120181736	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttacaattggtttagtCtgggactccgagcattctga	9	15	10	7	1	2	1	0	1	2	0	3	3	3	2	1	2	2	3	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120181736C>A	ENST00000450251.1	+	7	1294	c.750C>A	c.(748-750)gtC>gtA	p.V250V	USP53_ENST00000274030.6_Silent_p.V250V			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	250					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						TTGGTTTAGTCTGGGACTCCG	0.378													A	120181736	C	A	120181736	2	1	364	1	0	0	0	0	0	0	0	1	17186	900	32	4		4	USP53	4	120181736	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4083	120181736	70972540	4030	27532											
PDE5A	8654	broad.mit.edu	37	chr4	120528342	120528342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggcactgttatctgcaCgaggactctgctgcaaggga	9	8	14	10	1	2	0	0	0	2	0	2	3	2	2	0	4	3	5	0	4	2	1	rs150282561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:120528342C>T	ENST00000354960.3	-	2	582	c.263G>A	c.(262-264)cGt>cAt	p.R88H	PDE5A_ENST00000394439.1_Missense_Mutation_p.R36H|PDE5A_ENST00000264805.5_Missense_Mutation_p.R46H	NM_001083.3	NP_001074.2	O76074	PDE5A_HUMAN	phosphodiesterase 5A, cGMP-specific	88					platelet activation|signal transduction	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|zinc ion binding			breast(4)|endometrium(2)|kidney(3)|large_intestine(8)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	27					Dipyridamole(DB00975)|Pentoxifylline(DB00806)|Sildenafil(DB00203)|Tadalafil(DB00820)|Theophylline(DB00277)|Vardenafil(DB00862)	GTTATCTGCACGAGGACTCTG	0.507													T	120528342	C	T	120528342	3	4	364	1	0	0	0	0	1	0	0	0	11720	536	19	1	2444	1	PDE5A	4	120528342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346606	120528342	70625934	4031	27533											
TNIP3	79931	broad.mit.edu	37	chr4	122068271	122068271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagctcctctttctctTgattaagtctctctcgatcc	5	17	6	13	1	4	1	0	1	4	0	9	2	6	1	2	0	1	3	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122068271T>C	ENST00000454328.1	-	9	895	c.668A>G	c.(667-669)cAa>cGa	p.Q223R	TNIP3_ENST00000057513.3_Missense_Mutation_p.Q223R|TNIP3_ENST00000509841.1_Missense_Mutation_p.Q300R|TNIP3_ENST00000511909.1_5'UTR|TNIP3_ENST00000507879.1_Missense_Mutation_p.Q293R			Q96KP6	TNIP3_HUMAN	TNFAIP3 interacting protein 3	223										NS(1)|endometrium(4)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(2)	24						CTCTTTCTCTTGATTAAGTCT	0.383													C	122068271	T	C	122068271	3	2	364	1	0	0	0	0	1	0	0	0	16416	1812	63	3	329	3	TNIP3	4	122068271	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1539929	122068271	69086005	4032	27534											
TMEM155	132332	broad.mit.edu	37	chr4	122681480	122681480	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagatagcagtagccaatGacacagttctggccaatgag	13	8	11	9	0	1	3	0	2	1	1	1	3	1	3	2	1	3	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122681480G>T	ENST00000337677.5	-	6	920	c.362C>A	c.(361-363)tCa>tAa	p.S121*	TMEM155_ENST00000394394.1_Nonsense_Mutation_p.S121*|TMEM155_ENST00000394396.1_Nonsense_Mutation_p.S121*	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	121						extracellular region				breast(1)|lung(5)	6						agtagccaatgacacagttct	0.413													T	122681480	G	T	122681480	4	4	364	1	0	0	0	0	0	1	0	0	16172	1294	45	4	34	4	TMEM155	4	122681480	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	613209	122681480	68472796	4033	27535											
TMEM155	132332	broad.mit.edu	37	chr4	122682771	122682771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaaaagccagtgcaTggcacactctgggtaaattt	12	10	9	10	0	1	1	0	0	1	1	2	1	2	1	2	2	2	3	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122682771T>C	ENST00000337677.5	-	5	692	c.134A>G	c.(133-135)cAt>cGt	p.H45R	TMEM155_ENST00000394394.1_Missense_Mutation_p.H45R|TMEM155_ENST00000394396.1_Missense_Mutation_p.H45R	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	45						extracellular region				breast(1)|lung(5)	6						AGCCAGTGCATGGCACACTCT	0.433													C	122682771	T	C	122682771	3	2	364	1	0	0	0	0	1	0	0	0	16172	1464	51	3	266	3	TMEM155	4	122682771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1291	122682771	68471505	4034	27536											
BBS7	55212	broad.mit.edu	37	chr4	122754537	122754537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactggcctgttagggtcaGtgtattcatgggtctgtaat	8	14	13	6	0	3	0	2	0	1	0	3	1	3	0	1	3	1	3	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:122754537G>T	ENST00000264499.4	-	15	1708	c.1525C>A	c.(1525-1527)Ctg>Atg	p.L509M	BBS7_ENST00000506636.1_Missense_Mutation_p.L509M	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	509					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GTTAGGGTCAGTGTATTCATG	0.398									Bardet-Biedl syndrome				T	122754537	G	T	122754537	3	4	364	1	0	0	0	0	1	0	0	0	1346	1020	36	4	647	4	BBS7	4	122754537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71766	122754537	68399739	4035	27537											
KIAA1109	84162	broad.mit.edu	37	chr4	123109181	123109181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcatattgtgaaaggaaaGcttgaaaatgttcgagtcat	15	12	10	4	1	1	2	1	2	0	0	2	4	1	3	0	1	2	3	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123109181G>A	ENST00000264501.4	+	9	1132	c.759G>A	c.(757-759)aaG>aaA	p.K253K	KIAA1109_ENST00000455637.1_Silent_p.K253K|KIAA1109_ENST00000388738.3_Silent_p.K253K			Q2LD37	K1109_HUMAN	KIAA1109	253					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGAAAGGAAAGCTTGAAAATG	0.323													A	123109181	G	A	123109181	2	1	364	1	0	0	0	0	0	0	0	1	8266	962	34	2		2	KIAA1109	4	123109181	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	354644	123109181	68045095	4036	27538											
KIAA1109	84162	broad.mit.edu	37	chr4	123160873	123160873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtttagtagtgatgtcTctcgaagtgatgagaatgta	11	14	11	5	1	1	3	0	3	1	1	4	5	2	3	1	0	0	3	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123160873T>C	ENST00000264501.4	+	29	4409	c.4036T>C	c.(4036-4038)Tct>Cct	p.S1346P	KIAA1109_ENST00000455637.1_Missense_Mutation_p.S1346P|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000388738.3_Missense_Mutation_p.S1346P			Q2LD37	K1109_HUMAN	KIAA1109	1346					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TAGTGATGTCTCTCGAAGTGA	0.433													C	123160873	T	C	123160873	3	2	364	1	0	0	0	0	1	0	0	0	8266	1551	54	3	4142	3	KIAA1109	4	123160873	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51692	123160873	67993403	4037	27539											
KIAA1109	84162	broad.mit.edu	37	chr4	123161240	123161240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggcttcatttgtttctgCgttaggtggagaagatgatg	8	15	13	5	1	3	3	2	1	1	2	3	4	3	3	0	3	1	3	0	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123161240C>T	ENST00000264501.4	+	29	4776	c.4403C>T	c.(4402-4404)gCg>gTg	p.A1468V	KIAA1109_ENST00000455637.1_Missense_Mutation_p.A1468V|KIAA1109_ENST00000388738.3_Missense_Mutation_p.A1468V			Q2LD37	K1109_HUMAN	KIAA1109	1468					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TTTGTTTCTGCGTTAGGTGGA	0.423													T	123161240	C	T	123161240	3	4	364	1	0	0	0	0	1	0	0	0	8266	768	27	1	4509	1	KIAA1109	4	123161240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367	123161240	67993036	4038	27540											
KIAA1109	84162	broad.mit.edu	37	chr4	123252487	123252487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttctttctgtagacatacGtctcgtaaaaaagcaacagg	13	12	8	8	2	3	1	0	0	3	1	4	1	3	1	0	1	3	4	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123252487G>A	ENST00000264501.4	+	67	11629	c.11256G>A	c.(11254-11256)acG>acA	p.T3752T	KIAA1109_ENST00000388738.3_Silent_p.T3752T			Q2LD37	K1109_HUMAN	KIAA1109	3752					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTAGACATACGTCTCGTAAAA	0.378													A	123252487	G	A	123252487	2	1	364	1	0	0	0	0	0	0	0	1	8266	1132	40	1		1	KIAA1109	4	123252487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91247	123252487	67901789	4039	27541											
SPATA5	166378	broad.mit.edu	37	chr4	123978389	123978389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaaagcaagagcagtggCgccttccattattttctttg	10	12	9	10	2	1	1	0	0	1	1	2	2	2	1	3	1	2	2	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:123978389C>T	ENST00000274008.4	+	13	2228	c.2159C>T	c.(2158-2160)gCg>gTg	p.A720V	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						AGAGCAGTGGCGCCTTCCATT	0.378													T	123978389	C	T	123978389	3	4	364	1	0	0	0	0	1	0	0	0	15107	768	27	1	2209	1	SPATA5	4	123978389	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	725902	123978389	67175887	4040	27542											
SPATA5	166378	broad.mit.edu	37	chr4	124011759	124011759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggtgctgggaatgtagccGatcgtgttttggctcagctc	6	13	14	8	2	1	0	1	0	0	0	3	2	1	1	1	3	3	5	1	3	3	4	rs138229076		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124011759G>A	ENST00000274008.4	+	14	2308	c.2239G>A	c.(2239-2241)Gat>Aat	p.D747N	SPATA5_ENST00000422835.2_3'UTR	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAATGTAGCCGATCGTGTTTT	0.353													A	124011759	G	A	124011759	3	1	364	1	0	0	0	0	1	0	0	0	15107	1058	37	1	2293	1	SPATA5	4	124011759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33370	124011759	67142517	4041	27543											
SPATA5	166378	broad.mit.edu	37	chr4	124177314	124177314	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaactcatccttcaaacCgacgcatactcaggagcaga	14	7	8	12	2	3	2	3	1	0	1	4	5	4	3	2	1	4	2	2	1	3	2	rs76934283	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124177314C>T	ENST00000274008.4	+	15	2553	c.2484C>T	c.(2482-2484)acC>acT	p.T828T		NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5						cell differentiation|multicellular organismal development|spermatogenesis	mitochondrion	ATP binding|nucleoside-triphosphatase activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						TCCTTCAAACCGACGCATACT	0.448													T	124177314	C	T	124177314	2	4	364	1	0	0	0	0	0	0	0	1	15107	639	23	1		1	SPATA5	4	124177314	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165555	124177314	66976962	4042	27544											
SPRY1	10252	broad.mit.edu	37	chr4	124323307	124323307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaacagtgtgggaagtgCaagtgtggagaatgcactgc	11	9	16	5	0	0	2	0	1	0	1	0	4	0	3	0	2	4	2	0	2	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323307C>T	ENST00000394339.2	+	2	901	c.561C>T	c.(559-561)tgC>tgT	p.C187C	SPRY1_ENST00000339241.1_Silent_p.C187C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	187	Cys-rich.|SPR.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						GTGGGAAGTGCAAGTGTGGAG	0.522													T	124323307	C	T	124323307	2	4	364	1	0	0	0	0	0	0	0	1	15201	718	25	2		2	SPRY1	4	124323307	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145993	124323307	66830969	4043	27545											
SPRY1	10252	broad.mit.edu	37	chr4	124323657	124323657	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagaactccaacactgtctAttgtaagctggagagctgcc	12	10	9	10	0	1	2	0	0	1	2	2	3	2	2	2	1	5	3	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:124323657A>G	ENST00000394339.2	+	2	1251	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SPRY1_ENST00000339241.1_Missense_Mutation_p.Y304C	NM_001258039.1|NM_005841.2	NP_001244968.1|NP_005832.1	O43609	SPY1_HUMAN	sprouty homolog 1, antagonist of FGF signaling (Drosophila)	304	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|lamellipodium|plasma membrane				NS(1)|large_intestine(4)|lung(2)|ovary(1)|skin(3)	11						AACACTGTCTATTGTAAGCTG	0.502													G	124323657	A	G	124323657	3	3	364	1	0	0	0	0	1	0	0	0	15201	449	16	3	913	3	SPRY1	4	124323657	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	350	124323657	66830619	4044	27546											
ANKRD50	57182	broad.mit.edu	37	chr4	125591022	125591022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccaccagtactaccagagCtatttgatttaattgttaat	12	15	5	9	0	0	2	0	1	0	1	1	2	1	2	3	0	3	3	3	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125591022C>T	ENST00000504087.1	-	4	4447	c.3410G>A	c.(3409-3411)aGc>aAc	p.S1137N	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S958N	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1137	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTACCAGAGCTATTTGATTT	0.423													T	125591022	C	T	125591022	3	4	364	1	0	0	0	0	1	0	0	0	677	797	28	2	883	2	ANKRD50	4	125591022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1267365	125591022	65563254	4045	27547											
ANKRD50	57182	broad.mit.edu	37	chr4	125593066	125593066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagttaattaagtgcaatgCaaattcttgtgcttccaatg	12	15	8	6	0	1	1	0	1	1	0	2	1	2	1	1	0	3	4	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:125593066C>T	ENST00000504087.1	-	4	2403	c.1366G>A	c.(1366-1368)Gca>Aca	p.A456T	ANKRD50_ENST00000515641.1_Missense_Mutation_p.A277T	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	456										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						AAGTGCAATGCAAATTCTTGT	0.383													T	125593066	C	T	125593066	3	4	364	1	0	0	0	0	1	0	0	0	677	710	25	2	2927	2	ANKRD50	4	125593066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2044	125593066	65561210	4046	27548											
FAT4	79633	broad.mit.edu	37	chr4	126239717	126239717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgccactgacccagaCttgggtaccaatggtactgt	8	11	11	11	0	1	2	0	1	1	1	1	2	1	2	3	2	3	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126239717C>T	ENST00000394329.3	+	1	2164	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	717	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CTGACCCAGACTTGGGTACCA	0.488													T	126239717	C	T	126239717	2	4	364	1	0	0	0	0	0	0	0	1	5741	564	20	2		2	FAT4	4	126239717	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	646651	126239717	64914559	4047	27549											
FAT4	79633	broad.mit.edu	37	chr4	126241177	126241177	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttacatgaaggatataaAtgataatgctcccaaatttt	15	15	6	5	0	0	2	0	2	0	0	1	3	1	3	1	1	2	2	1	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126241177A>C	ENST00000394329.3	+	1	3624	c.3611A>C	c.(3610-3612)aAt>aCt	p.N1204T		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1204	Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AAGGATATAAATGATAATGCT	0.408													C	126241177	A	C	126241177	3	2	364	1	0	0	0	0	1	0	0	0	5741	101	4	5	3613	5	FAT4	4	126241177	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1460	126241177	64913099	4048	27550											
FAT4	79633	broad.mit.edu	37	chr4	126242732	126242732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttttcccagaacacaGagagcagaggtaatgatttt	13	11	9	8	0	0	4	0	1	0	3	1	5	1	4	1	1	3	3	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126242732G>T	ENST00000394329.3	+	1	5179	c.5166G>T	c.(5164-5166)caG>caT	p.Q1722H		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1722	Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCAGAACACAGAGAGCAGAGG	0.358													T	126242732	G	T	126242732	3	4	364	1	0	0	0	0	1	0	0	0	5741	933	33	4	5168	4	FAT4	4	126242732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1555	126242732	64911544	4049	27551											
FAT4	79633	broad.mit.edu	37	chr4	126328128	126328128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctgatagcaaccaggCggttggacagggaacgccgc	11	5	15	10	3	1	2	0	1	1	1	1	5	1	4	2	4	3	2	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126328128C>T	ENST00000394329.3	+	3	5414	c.5401C>T	c.(5401-5403)Cgg>Tgg	p.R1801W	FAT4_ENST00000335110.5_Missense_Mutation_p.R99W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1801	Cadherin 17.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AGCAACCAGGCGGTTGGACAG	0.458													T	126328128	C	T	126328128	3	4	364	1	0	0	0	0	1	0	0	0	5741	759	27	1	5411	1	FAT4	4	126328128	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85396	126328128	64826148	4050	27552											
FAT4	79633	broad.mit.edu	37	chr4	126336616	126336616	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtggagattaatgaaaaCacacttactggaacagatat	19	9	8	5	0	0	3	0	1	0	2	0	5	0	4	0	2	3	0	0	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336616C>T	ENST00000394329.3	+	5	6511	c.6498C>T	c.(6496-6498)aaC>aaT	p.N2166N	FAT4_ENST00000335110.5_Silent_p.N464N	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2166	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGAAAACACACTTACTG	0.388													T	126336616	C	T	126336616	2	4	364	1	0	0	0	0	0	0	0	1	5741	477	17	2		2	FAT4	4	126336616	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8488	126336616	64817660	4051	27553											
FAT4	79633	broad.mit.edu	37	chr4	126336687	126336687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcacaaatggacaggttcGctatggcattgttaatggta	12	11	12	6	1	0	0	0	0	0	0	1	1	0	1	0	5	0	6	0	5	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126336687G>A	ENST00000394329.3	+	5	6582	c.6569G>A	c.(6568-6570)cGc>cAc	p.R2190H	FAT4_ENST00000335110.5_Missense_Mutation_p.R488H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2190	Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGACAGGTTCGCTATGGCATT	0.413													A	126336687	G	A	126336687	3	1	364	1	0	0	0	0	1	0	0	0	5741	1087	38	1	6587	1	FAT4	4	126336687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71	126336687	64817589	4052	27554											
FAT4	79633	broad.mit.edu	37	chr4	126337709	126337709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcagccagtggagaacttgGagtaacacagagtctggatc	12	8	12	9	0	2	2	1	0	1	2	3	5	2	4	1	3	3	1	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337709G>A	ENST00000394329.3	+	6	6963	c.6950G>A	c.(6949-6951)gGa>gAa	p.G2317E	FAT4_ENST00000335110.5_Missense_Mutation_p.G615E	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2317	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413													A	126337709	G	A	126337709	3	1	364	1	0	0	0	0	1	0	0	0	5741	1174	41	2	6972	2	FAT4	4	126337709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1022	126337709	64816567	4053	27555											
FAT4	79633	broad.mit.edu	37	chr4	126337763	126337763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgctttgtcttaatgattaCagctacagattcaggtaagt	11	14	9	7	1	2	2	1	1	1	1	2	2	2	2	0	1	3	3	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126337763C>T	ENST00000394329.3	+	6	7017	c.7004C>T	c.(7003-7005)aCa>aTa	p.T2335I	FAT4_ENST00000335110.5_Missense_Mutation_p.T633I	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2335	Cadherin 22.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTAATGATTACAGCTACAGAT	0.453													T	126337763	C	T	126337763	3	4	364	1	0	0	0	0	1	0	0	0	5741	478	17	2	7026	2	FAT4	4	126337763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54	126337763	64816513	4054	27556											
FAT4	79633	broad.mit.edu	37	chr4	126355525	126355525	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgcaccaactggaacaGatgttttattggtaaatgcc	13	11	10	7	0	0	1	0	0	0	1	0	3	0	3	2	3	4	3	2	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126355525G>T	ENST00000394329.3	+	7	7157	c.7144G>T	c.(7144-7146)Gat>Tat	p.D2382Y	FAT4_ENST00000335110.5_Missense_Mutation_p.D680Y	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2382	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AACTGGAACAGATGTTTTATT	0.368													T	126355525	G	T	126355525	3	4	364	1	0	0	0	0	1	0	0	0	5741	942	33	4	7170	4	FAT4	4	126355525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17762	126355525	64798751	4055	27557											
FAT4	79633	broad.mit.edu	37	chr4	126371190	126371190	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagttaatcagagttacaGcaatagatgacaaagatttt	17	11	8	5	1	1	4	1	1	0	3	1	5	1	4	0	0	2	3	0	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126371190G>T	ENST00000394329.3	+	9	9032	c.9019G>T	c.(9019-9021)Gca>Tca	p.A3007S	FAT4_ENST00000335110.5_Missense_Mutation_p.A1305S	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3007	Cadherin 29.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CAGAGTTACAGCAATAGATGA	0.338													T	126371190	G	T	126371190	3	4	364	1	0	0	0	0	1	0	0	0	5741	971	34	4	9053	4	FAT4	4	126371190	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15665	126371190	64783086	4056	27558											
FAT4	79633	broad.mit.edu	37	chr4	126398495	126398495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcatcctagatcagtatgGcgattttatttcttactgtt	9	17	8	7	1	2	1	1	0	1	1	3	2	3	1	1	2	1	3	1	2	4	7	rs143740948		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:126398495G>A	ENST00000335110.5	+	12	7268	c.7268G>A	c.(7267-7269)gGc>gAc	p.G2423D	FAT4_ENST00000394329.3_Intron			Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4160	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCAGTATGGCGATTTTATT	0.368													A	126398495	G	A	126398495	3	1	364	1	0	0	0	0	1	0	0	0	5741	1218	42	2		2	FAT4	4	126398495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27305	126398495	64755781	4057	27559											
INTU	27152	broad.mit.edu	37	chr4	128626764	128626764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggttatttgatatgcagtCatttgcccaaggatgatctt	10	15	10	6	0	2	2	1	2	1	0	2	3	2	3	1	2	2	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626764C>T	ENST00000335251.6	+	11	1688	c.1585C>T	c.(1585-1587)Cat>Tat	p.H529Y	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						GATATGCAGTCATTTGCCCAA	0.368													T	128626764	C	T	128626764	3	4	364	1	0	0	0	0	1	0	0	0	7844	826	29	2	1627	2	INTU	4	128626764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2228269	128626764	62527512	4058	27560											
INTU	27152	broad.mit.edu	37	chr4	128626796	128626796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcttattgatattgcCgtatactgtcgccactattg	9	16	8	8	2	1	2	0	2	1	0	2	3	1	2	2	0	2	1	2	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128626796C>T	ENST00000335251.6	+	11	1720	c.1617C>T	c.(1615-1617)gcC>gcT	p.A539A	INTU_ENST00000512995.1_3'UTR	NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TTGATATTGCCGTATACTGTC	0.403													T	128626796	C	T	128626796	2	4	364	1	0	0	0	0	0	0	0	1	7844	639	23	1		1	INTU	4	128626796	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	128626796	62527480	4059	27561											
INTU	27152	broad.mit.edu	37	chr4	128632127	128632127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccttagaaacagtgcaagGaatctttattactcctaccc	12	12	6	11	0	1	1	0	0	1	1	2	2	2	2	3	1	5	1	3	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128632127G>A	ENST00000335251.6	+	14	2532	c.2429G>A	c.(2428-2430)gGa>gAa	p.G810E		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						ACAGTGCAAGGAATCTTTATT	0.383													A	128632127	G	A	128632127	3	1	364	1	0	0	0	0	1	0	0	0	7844	1174	41	2	2483	2	INTU	4	128632127	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5331	128632127	62522149	4060	27562											
SLC25A31	83447	broad.mit.edu	37	chr4	128688327	128688327	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgtttcagtacagggCatcattgtgtaccgagcctc	7	14	11	9	1	2	0	2	0	0	0	3	1	2	0	2	2	3	4	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:128688327C>T	ENST00000281154.4	+	4	753	c.585C>T	c.(583-585)ggC>ggT	p.G195G		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	195					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						CAGTACAGGGCATCATTGTGT	0.378													T	128688327	C	T	128688327	2	4	364	1	0	0	0	0	0	0	0	1	14589	697	25	2		2	SLC25A31	4	128688327	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56200	128688327	62465949	4061	27563											
LARP1B	55132	broad.mit.edu	37	chr4	129012278	129012278	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggacggggaagaggaCgaggcagaggaaatcctcga	13	2	18	8	4	0	2	0	0	0	2	2	9	1	6	2	6	0	1	2	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:129012278C>T	ENST00000326639.6	+	6	692	c.481C>T	c.(481-483)Cga>Tga	p.R161*	LARP1B_ENST00000441387.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000432347.2_Nonsense_Mutation_p.R161*|LARP1B_ENST00000427266.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000394288.3_Nonsense_Mutation_p.R161*|LARP1B_ENST00000264584.5_Nonsense_Mutation_p.R114*|LARP1B_ENST00000512292.1_Nonsense_Mutation_p.R161*|LARP1B_ENST00000354456.3_5'UTR	NM_018078.2	NP_060548.2	Q659C4	LAR1B_HUMAN	La ribonucleoprotein domain family, member 1B	161	Arg-rich.						RNA binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(11)|ovary(1)|prostate(3)	34						GGGAAGAGGACGAGGCAGAGG	0.408													T	129012278	C	T	129012278	4	4	364	1	0	0	0	0	0	1	0	0	8688	528	19	1	495	1	LARP1B	4	129012278	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323951	129012278	62141998	4062	27564											
PCDH18	54510	broad.mit.edu	37	chr4	138442723	138442723	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgctgctgctggggttgCgttgggaattcttcccctgg	3	13	16	9	1	1	0	0	0	1	0	2	2	2	2	2	5	4	5	2	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:138442723C>T	ENST00000344876.4	-	4	3254	c.2868G>A	c.(2866-2868)acG>acA	p.T956T	PCDH18_ENST00000412923.2_Silent_p.T955T|PCDH18_ENST00000507846.1_Silent_p.T735T|PCDH18_ENST00000511115.1_Silent_p.T136T|PCDH18_ENST00000510305.1_Silent_p.T167T	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	956	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T956T(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					GCTGGGGTTGCGTTGGGAATT	0.517													T	138442723	C	T	138442723	2	4	364	1	0	0	0	0	0	0	0	1	11589	755	27	1		1	PCDH18	4	138442723	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9430445	138442723	52711553	4063	27565											
SLC7A11	23657	broad.mit.edu	37	chr4	139140512	139140512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcgtctttaaagttctgCgtttgacctgtaattagaat	11	15	9	6	2	2	2	0	1	2	1	2	2	2	2	1	1	1	3	1	1	6	6	rs143734527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139140512C>T	ENST00000280612.5	-	5	933	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	218					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	TAAAGTTCTGCGTTTGACCTG	0.388													T	139140512	C	T	139140512	2	4	364	1	0	0	0	0	0	0	0	1	14788	755	27	1		1	SLC7A11	4	139140512	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697789	139140512	52013764	4064	27566											
ELF2	1998	broad.mit.edu	37	chr4	139981701	139981701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttcatcagtagttcctgCtaaatcttcattacaggttt	9	19	5	8	0	4	0	3	0	1	0	5	0	5	0	1	1	2	4	1	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981701C>A	ENST00000394235.2	-	9	1400	c.898G>T	c.(898-900)Gca>Tca	p.A300S	ELF2_ENST00000379550.1_Missense_Mutation_p.A312S|ELF2_ENST00000379549.2_Missense_Mutation_p.A223S|ELF2_ENST00000510408.1_Missense_Mutation_p.A240S|ELF2_ENST00000515489.1_5'UTR|ELF2_ENST00000358635.3_Missense_Mutation_p.A252S|ELF2_ENST00000265495.4_Missense_Mutation_p.A300S	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	312					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					GTAGTTCCTGCTAAATCTTCA	0.403													A	139981701	C	A	139981701	3	1	364	1	0	0	0	0	1	0	0	0	5095	797	28	4	855	4	ELF2	4	139981701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	841189	139981701	51172575	4065	27567											
ELF2	1998	broad.mit.edu	37	chr4	139981791	139981791	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatacaagcctctgtcCttcaacctttgcaagaattc	11	13	5	12	0	2	2	1	1	1	1	4	2	3	2	3	0	4	1	3	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:139981791C>A	ENST00000394235.2	-	9	1310	c.808G>T	c.(808-810)Gga>Tga	p.G270*	ELF2_ENST00000379550.1_Nonsense_Mutation_p.G282*|ELF2_ENST00000379549.2_Nonsense_Mutation_p.G193*|ELF2_ENST00000510408.1_Nonsense_Mutation_p.G210*|ELF2_ENST00000358635.3_Nonsense_Mutation_p.G222*|ELF2_ENST00000265495.4_Nonsense_Mutation_p.G270*	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	282					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					AGCCTCTGTCCTTCAACCTTT	0.398													A	139981791	C	A	139981791	4	1	364	1	0	0	0	0	0	1	0	0	5095	690	24	4	945	4	ELF2	4	139981791	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	139981791	51172485	4066	27568											
NAA15	80155	broad.mit.edu	37	chr4	140275240	140275240	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaaaaagctgccggttaTttaaccccaatggtaagtcc	12	11	7	11	1	1	0	0	0	1	0	2	0	2	0	4	2	3	3	4	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140275240T>C	ENST00000296543.5	+	10	1398	c.1075T>C	c.(1075-1077)Ttt>Ctt	p.F359L	NAA15_ENST00000398947.1_Missense_Mutation_p.F359L	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	359					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						CTGCCGGTTATTTAACCCCAA	0.308													C	140275240	T	C	140275240	3	2	364	1	0	0	0	0	1	0	0	0	10194	1493	52	3	1113	3	NAA15	4	140275240	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	293449	140275240	50879036	4067	27569											
SETD7	80854	broad.mit.edu	37	chr4	140454392	140454392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatcagtctcccatctGtgtcatattcctgggctgga	8	13	10	10	0	4	2	2	1	2	1	6	3	5	3	2	2	0	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140454392G>A	ENST00000274031.3	-	3	935	c.299C>T	c.(298-300)aCa>aTa	p.T100I	SETD7_ENST00000406354.1_3'UTR|SETD7_ENST00000506866.2_Missense_Mutation_p.T100I|SETD7_ENST00000404104.3_Missense_Mutation_p.T100I	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	100					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					TCTCCCATCTGTGTCATATTC	0.507													A	140454392	G	A	140454392	3	1	364	1	0	0	0	0	1	0	0	0	14229	1377	48	2	825	2	SETD7	4	140454392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179152	140454392	50699884	4068	27570											
SETD7	80854	broad.mit.edu	37	chr4	140468102	140468102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagaagaacttcccccGtccgttcttttctccgtgaa	11	11	7	12	3	2	4	0	1	2	3	5	4	4	4	4	0	1	1	4	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140468102G>A	ENST00000274031.3	-	2	778	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SETD7_ENST00000406354.1_Silent_p.D30D|SETD7_ENST00000506866.2_Missense_Mutation_p.R48W|SETD7_ENST00000404104.3_Missense_Mutation_p.R48W	NM_030648.2	NP_085151.1	Q8WTS6	SETD7_HUMAN	SET domain containing (lysine methyltransferase) 7	48					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	8	all_hematologic(180;0.156)					AACTTCCCCCGTCCGTTCTTT	0.458													A	140468102	G	A	140468102	3	1	364	1	0	0	0	0	1	0	0	0	14229	1144	40	1	986	1	SETD7	4	140468102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13710	140468102	50686174	4069	27571											
MAML3	55534	broad.mit.edu	37	chr4	140641269	140641269	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatttgggtcatgcctgtGctcatattgtacattcctgg	8	15	9	9	0	2	0	2	0	0	0	3	0	3	0	2	2	4	2	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641269G>A	ENST00000509479.2	-	5	3481	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	871	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)					TCATGCCTGTGCTCATATTGT	0.582													A	140641269	G	A	140641269	2	1	364	1	0	0	0	0	0	0	0	1	9282	1310	46	2		2	MAML3	4	140641269	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173167	140641269	50513007	4070	27572											
MAML3	55534	broad.mit.edu	37	chr4	140641415	140641415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttctgtgccatcagccGtgacgttcgcatgctctgga	5	12	12	12	4	3	1	1	1	2	0	4	2	3	2	2	1	4	4	2	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140641415G>A	ENST00000509479.2	-	5	3335	c.2479C>T	c.(2479-2481)Cgg>Tgg	p.R827W	MGST2_ENST00000515137.1_Intron	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	823	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)					GCCATCAGCCGTGACGTTCGC	0.587													A	140641415	G	A	140641415	3	1	364	1	0	0	0	0	1	0	0	0	9282	1144	40	1	941	1	MAML3	4	140641415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146	140641415	50512861	4071	27573											
MAML3	55534	broad.mit.edu	37	chr4	140810384	140810384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaacctggccactacctgagGatgtgtaaagaggttttctg	11	11	11	8	0	1	2	0	1	1	1	1	3	1	3	3	3	2	2	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810384G>T	ENST00000398940.1	-	5	783	c.784C>A	c.(784-786)Cct>Act	p.P262T	MAML3_ENST00000509479.2_Intron|MAML3_ENST00000327122.5_Intron			Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	0					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)					ACTACCTGAGGATGTGTAAAG	0.433													T	140810384	G	T	140810384	3	4	364	1	0	0	0	0	1	0	0	0	9282	1189	41	4		4	MAML3	4	140810384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168969	140810384	50343892	4072	27574											
MAML3	55534	broad.mit.edu	37	chr4	140810709	140810709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatatacggcatcaaGgggtttttgttggggttggc	6	14	16	5	1	1	0	1	0	0	0	1	1	1	1	0	7	2	5	0	7	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140810709G>T	ENST00000509479.2	-	2	2737	c.1881C>A	c.(1879-1881)ccC>ccA	p.P627P	MAML3_ENST00000398940.1_Silent_p.P155P|MAML3_ENST00000327122.5_Silent_p.P471P	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	623	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)					ACGGCATCAAGGGGTTTTTGT	0.562													T	140810709	G	T	140810709	2	4	364	1	0	0	0	0	0	0	0	1	9282	987	35	4		4	MAML3	4	140810709	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325	140810709	50343567	4073	27575											
MAML3	55534	broad.mit.edu	37	chr4	140811295	140811295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaccatttccaggccgaGgtggagcttggcctggagtg	8	9	15	9	1	0	0	0	0	0	0	1	4	1	2	4	5	2	1	4	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811295G>T	ENST00000509479.2	-	2	2151	c.1295C>A	c.(1294-1296)cCt>cAt	p.P432H	MAML3_ENST00000327122.5_Missense_Mutation_p.P276H	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	432					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)					TCCAGGCCGAGGTGGAGCTTG	0.597													T	140811295	G	T	140811295	3	4	364	1	0	0	0	0	1	0	0	0	9282	1000	35	4	2129	4	MAML3	4	140811295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	586	140811295	50342981	4074	27576											
MAML3	55534	broad.mit.edu	37	chr4	140811770	140811770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgagaggttcttgtttgaGgtctttgctctgcaagatgg	7	15	13	6	1	3	3	0	1	3	2	4	4	3	3	0	3	2	4	0	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:140811770G>T	ENST00000509479.2	-	2	1676	c.820C>A	c.(820-822)Ctc>Atc	p.L274I	MAML3_ENST00000327122.5_Missense_Mutation_p.L118I	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	274					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)					TCTTGTTTGAGGTCTTTGCTC	0.423													T	140811770	G	T	140811770	3	4	364	1	0	0	0	0	1	0	0	0	9282	1000	35	4	2604	4	MAML3	4	140811770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475	140811770	50342506	4075	27577											
CLGN	1047	broad.mit.edu	37	chr4	141320176	141320176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaactaacacctcaaatGtgtcatctggattcatcact	13	12	5	11	0	6	0	5	0	1	0	6	2	6	1	1	1	2	0	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141320176G>A	ENST00000325617.5	-	8	1153	c.713C>T	c.(712-714)aCa>aTa	p.T238I	CLGN_ENST00000414773.1_Missense_Mutation_p.T238I|CLGN_ENST00000537281.1_Missense_Mutation_p.T238I	NM_004362.2	NP_004353.1	O14967	CLGN_HUMAN	calmegin	238					protein folding	endoplasmic reticulum membrane|integral to membrane	calcium ion binding|unfolded protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(5)|ovary(2)|prostate(3)|skin(4)|urinary_tract(1)	25	all_hematologic(180;0.162)					CACCTCAAATGTGTCATCTGG	0.338													A	141320176	G	A	141320176	3	1	364	1	0	0	0	0	1	0	0	0	3555	1377	48	2	1151	2	CLGN	4	141320176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508406	141320176	49834100	4076	27578											
ELMOD2	255520	broad.mit.edu	37	chr4	141446679	141446679	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggaagtgtgaattgcagCgaatatttgatacctatgta	12	13	11	5	1	0	2	0	2	0	0	0	4	0	3	1	1	3	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141446679C>T	ENST00000323570.3	+	2	229	c.97C>T	c.(97-99)Cga>Tga	p.R33*	ELMOD2_ENST00000511887.2_Nonsense_Mutation_p.R33*	NM_153702.3	NP_714913.1	Q8IZ81	ELMD2_HUMAN	ELMO/CED-12 domain containing 2	33					phagocytosis|regulation of defense response to virus|response to virus	cytoskeleton	GTPase activator activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7	all_hematologic(180;0.162)					TGAATTGCAGCGAATATTTGA	0.343													T	141446679	C	T	141446679	4	4	364	1	0	0	0	0	0	1	0	0	5110	760	27	1	99	1	ELMOD2	4	141446679	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126503	141446679	49707597	4077	27579											
TBC1D9	23158	broad.mit.edu	37	chr4	141600336	141600336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcaagctgagtgatgtctAcccaccggatgaccagtttc	9	11	9	12	1	2	3	1	3	2	0	4	4	2	4	3	1	2	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141600336A>G	ENST00000442267.2	-	5	685	c.611T>C	c.(610-612)gTa>gCa	p.V204A		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	204	GRAM 1.					intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				AGTGATGTCTACCCACCGGAT	0.488													G	141600336	A	G	141600336	3	3	364	1	0	0	0	0	1	0	0	0	15727	391	14	3	3257	3	TBC1D9	4	141600336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	153657	141600336	49553940	4078	27580											
RNF150	57484	broad.mit.edu	37	chr4	141832381	141832381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctcccacagtccggacaGcagggtccaaagtgactgaa	12	5	12	12	1	0	2	0	2	0	0	3	3	3	3	3	3	1	2	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832381G>T	ENST00000515673.2	-	6	1148	c.1115C>A	c.(1114-1116)gCt>gAt	p.A372D	RNF150_ENST00000507500.1_Missense_Mutation_p.A372D|RNF150_ENST00000379512.2_Missense_Mutation_p.A231D|RNF150_ENST00000306799.3_Missense_Mutation_p.A330D|RNF150_ENST00000420921.2_Missense_Mutation_p.A231D			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					AGTCCGGACAGCAGGGTCCAA	0.557													T	141832381	G	T	141832381	3	4	364	1	0	0	0	0	1	0	0	0	13542	971	34	4	209	4	RNF150	4	141832381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232045	141832381	49321895	4079	27581											
RNF150	57484	broad.mit.edu	37	chr4	141832500	141832500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtcgtccatgcagtcGgcattgggctgatggggcag	7	8	17	9	2	0	1	0	1	0	0	3	1	1	1	1	5	1	5	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:141832500G>A	ENST00000515673.2	-	6	1029	c.996C>T	c.(994-996)gcC>gcT	p.A332A	RNF150_ENST00000507500.1_Silent_p.A332A|RNF150_ENST00000379512.2_Silent_p.A191A|RNF150_ENST00000306799.3_Silent_p.A290A|RNF150_ENST00000420921.2_Silent_p.A191A			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					CCATGCAGTCGGCATTGGGCT	0.478													A	141832500	G	A	141832500	2	1	364	1	0	0	0	0	0	0	0	1	13542	1103	39	1		1	RNF150	4	141832500	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119	141832500	49321776	4080	27582											
ZNF330	27309	broad.mit.edu	37	chr4	142151400	142151400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcatcaagccagctgccagGttttagaggcagaaacattt	13	9	10	9	0	1	2	1	0	0	2	1	2	1	2	2	2	5	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142151400G>A	ENST00000262990.4	+	7	727	c.499G>A	c.(499-501)Gtt>Att	p.V167I	ZNF330_ENST00000421169.2_Missense_Mutation_p.V107I	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	167						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGCTGCCAGGTTTTAGAGGC	0.308													A	142151400	G	A	142151400	3	1	364	1	0	0	0	0	1	0	0	0	17949	1261	44	2	521	2	ZNF330	4	142151400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318900	142151400	49002876	4081	27583											
IL15	3600	broad.mit.edu	37	chr4	142653933	142653934	+	Frame_Shift_Ins	INS	-	-	A																															agaatgtgaggaactggaggINSaaaaaaatattaaagaattt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:142653933_142653934insA	ENST00000477265.1	+	7	5348_5349	c.340_341insA	c.(340-342)gaafs	p.E114fs	IL15_ENST00000394159.1_Frame_Shift_Ins_p.E114fs|IL15_ENST00000514653.1_Frame_Shift_Ins_p.E114fs|IL15_ENST00000296545.7_Frame_Shift_Ins_p.E141fs|IL15_ENST00000529613.1_Frame_Shift_Ins_p.E141fs|IL15_ENST00000320650.4_Frame_Shift_Ins_p.E141fs			P40933	IL15_HUMAN	interleukin 15	141					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					GGAACTGGAGGAAAAAAATATT	0.272													A	142653934	-	A	142653933	7	5	364	1	0	1	1	0	0	0	0	0	7689	1175	41	0	443	0	IL15	4	142653933	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	502533	142653933	48500343	4082	27584											
INPP4B	8821	broad.mit.edu	37	chr4	143044465	143044465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgtacttagcagtcctTcatattgtactatcaacccc	10	15	5	11	0	2	0	2	0	0	0	3	0	3	0	3	0	4	4	3	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143044465T>C	ENST00000513000.1	-	21	2430	c.1997A>G	c.(1996-1998)gAa>gGa	p.E666G	INPP4B_ENST00000262992.4_Missense_Mutation_p.E666G|INPP4B_ENST00000509777.1_Missense_Mutation_p.E666G|INPP4B_ENST00000308502.4_Missense_Mutation_p.E666G|INPP4B_ENST00000508116.1_Missense_Mutation_p.E666G	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	666					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TAGCAGTCCTTCATATTGTAC	0.363													C	143044465	T	C	143044465	3	2	364	1	0	0	0	0	1	0	0	0	7811	1783	62	3	805	3	INPP4B	4	143044465	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	390532	143044465	48109811	4083	27585											
INPP4B	8821	broad.mit.edu	37	chr4	143159150	143159150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatctatataatttacataCtgggttctttaacactggaa	15	15	5	6	0	2	0	0	0	2	0	2	1	2	1	0	2	3	1	0	2	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:143159150C>A	ENST00000513000.1	-	13	1136	c.703G>T	c.(703-705)Gta>Tta	p.V235L	INPP4B_ENST00000262992.4_Missense_Mutation_p.V235L|INPP4B_ENST00000509777.1_Missense_Mutation_p.V235L|INPP4B_ENST00000308502.4_Missense_Mutation_p.V235L|INPP4B_ENST00000508116.1_Missense_Mutation_p.V235L	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	235					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					AATTTACATACTGGGTTCTTT	0.313													A	143159150	C	A	143159150	3	1	364	1	0	0	0	0	1	0	0	0	7811	565	20	4	2131	4	INPP4B	4	143159150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114685	143159150	47995126	4084	27586											
SMARCA5	8467	broad.mit.edu	37	chr4	144445597	144445597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcaaccaatgtttgcaCtcgatttgaagactctccat	13	11	6	11	1	1	2	0	1	1	1	3	3	1	2	2	0	3	3	2	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144445597C>T	ENST00000283131.3	+	4	959	c.497C>T	c.(496-498)aCt>aTt	p.T166I		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	166					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					AATGTTTGCACTCGATTTGAA	0.358													T	144445597	C	T	144445597	3	4	364	1	0	0	0	0	1	0	0	0	14865	565	20	2	511	2	SMARCA5	4	144445597	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1286447	144445597	46708679	4085	27587											
SMARCA5	8467	broad.mit.edu	37	chr4	144457707	144457707	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcagttgagaaaatgttgTaatcatccatatctctttga	13	15	7	6	0	2	2	1	2	1	1	4	3	3	2	1	0	1	4	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144457707T>C	ENST00000283131.3	+	11	1833	c.1371T>C	c.(1369-1371)tgT>tgC	p.C457C		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	457					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					GAAAATGTTGTAATCATCCAT	0.378													C	144457707	T	C	144457707	2	2	364	1	0	0	0	0	0	0	0	1	14865	1644	57	3		3	SMARCA5	4	144457707	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12110	144457707	46696569	4086	27588											
SMARCA5	8467	broad.mit.edu	37	chr4	144465101	144465101	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttataacttcgaaggAgaagactatagagaaaaaca	19	9	9	4	1	0	3	0	0	0	3	1	6	0	3	0	1	2	1	0	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:144465101A>T	ENST00000283131.3	+	16	2610	c.2148A>T	c.(2146-2148)ggA>ggT	p.G716G		NM_003601.3	NP_003592.3	O60264	SMCA5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5	716					CenH3-containing nucleosome assembly at centromere|nucleosome positioning|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	condensed chromosome|nucleolus|nucleoplasm|NURF complex|RSF complex	ATP binding|ATPase activity|DNA binding|helicase activity|nucleosome binding|protein binding		EWSR1/SMARCA5(2)	endometrium(2)|kidney(2)|large_intestine(9)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(180;0.158)					ACTTCGAAGGAGAAGACTATA	0.333													T	144465101	A	T	144465101	2	4	364	1	0	0	0	0	0	0	0	1	14865	291	11	5		5	SMARCA5	4	144465101	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7394	144465101	46689175	4087	27589											
HHIP	64399	broad.mit.edu	37	chr4	145573764	145573764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggctttcagatattttCtgttaccaacaacacagaat	13	15	5	8	0	2	2	1	0	1	2	2	2	2	2	1	1	3	2	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145573764C>A	ENST00000296575.3	+	2	942	c.287C>A	c.(286-288)tCt>tAt	p.S96Y	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Missense_Mutation_p.S96Y	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	96						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		CAGATATTTTCTGTTACCAAC	0.343													A	145573764	C	A	145573764	3	1	364	1	0	0	0	0	1	0	0	0	7147	913	32	4	293	4	HHIP	4	145573764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1108663	145573764	45580512	4088	27590											
HHIP	64399	broad.mit.edu	37	chr4	145635498	145635498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgtttggagatcgtaaTgggtaggtttcctgatacca	9	14	12	6	2	0	2	0	1	0	1	2	3	1	2	2	3	2	4	2	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145635498T>C	ENST00000296575.3	+	9	2200	c.1545T>C	c.(1543-1545)aaT>aaC	p.N515N		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	515						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GAGATCGTAATGGGTAGGTTT	0.388													C	145635498	T	C	145635498	2	2	364	1	0	0	0	0	0	0	0	1	7147	1461	51	3		3	HHIP	4	145635498	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61734	145635498	45518778	4089	27591											
ANAPC10	10393	broad.mit.edu	37	chr4	145916607	145916607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctctcttctactggtgtgTatattttaatttgtctcata	8	20	6	7	0	3	0	1	0	3	0	5	0	3	0	0	1	2	2	0	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:145916607T>C	ENST00000507656.1	-	5	569	c.476A>G	c.(475-477)tAc>tGc	p.Y159C	ANAPC10_ENST00000510270.1_5'UTR|ANAPC10_ENST00000451299.2_Missense_Mutation_p.Y159C|ANAPC10_ENST00000309439.5_Missense_Mutation_p.Y159C	NM_001256706.1	NP_001243635.1	Q9UM13	APC10_HUMAN	anaphase promoting complex subunit 10	159	DOC.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin-protein ligase activity			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	all_hematologic(180;0.151)					TACTGGTGTGTATATTTTAAT	0.358													C	145916607	T	C	145916607	3	2	364	1	0	0	0	0	1	0	0	0	599	1638	57	3	85	3	ANAPC10	4	145916607	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	281109	145916607	45237669	4090	27592											
ABCE1	6059	broad.mit.edu	37	chr4	146042358	146042358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacatttatcagaatgcttGctggaagacttaaacctgat	13	12	8	8	1	1	3	1	1	0	2	1	5	1	4	1	1	3	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146042358G>A	ENST00000296577.4	+	12	1692	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T	ABCE1_ENST00000502803.1_3'UTR|OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	393	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CAGAATGCTTGCTGGAAGACT	0.363													A	146042358	G	A	146042358	3	1	364	1	0	0	0	0	1	0	0	0	64	1319	46	2	1219	2	ABCE1	4	146042358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125751	146042358	45111918	4091	27593											
ABCE1	6059	broad.mit.edu	37	chr4	146044650	146044651	+	Frame_Shift_Ins	INS	-	-	G																															ttcatactccatgcaaaaaaINSgacagcctttgttgtggaac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146044650_146044651insG	ENST00000296577.4	+	16	2053_2054	c.1538_1539insG	c.(1537-1542)aagacafs	p.T514fs	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	514	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	p.K513R(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					CATGCAAAAAAGACAGCCTTTG	0.371													G	146044651	-	G	146044650	7	5	364	1	0	1	1	0	0	0	0	0	64	72	3	0	1596	0	ABCE1	4	146044650	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	2292	146044650	45109626	4092	27594											
OTUD4	54726	broad.mit.edu	37	chr4	146059313	146059313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcctcattactggattttCtatgaatccctgaaaagggt	10	14	8	9	0	2	2	1	2	1	0	3	3	3	3	2	2	2	0	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146059313C>T	ENST00000454497.2	-	21	2556	c.2419G>A	c.(2419-2421)Gaa>Aaa	p.E807K	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Missense_Mutation_p.E872K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	871							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					ACTGGATTTTCTATGAATCCC	0.433													T	146059313	C	T	146059313	3	4	364	1	0	0	0	0	1	0	0	0	11390	922	32	2	734	2	OTUD4	4	146059313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14663	146059313	45094963	4093	27595											
OTUD4	54726	broad.mit.edu	37	chr4	146067419	146067419	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgtcttttcatacatacGgaaagggctgggaaagcctg	12	10	11	8	1	2	0	1	0	1	0	2	2	2	2	1	3	4	1	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146067419G>A	ENST00000454497.2	-	14	1364	c.1227C>T	c.(1225-1227)tcC>tcT	p.S409S	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_Splice_Site_p.S474S	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	473							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TCATACATACGGAAAGGGCTG	0.373													A	146067419	G	A	146067419	5	1	364	1	0	0	0	0	0	0	1	0	11390	1130	39	1	1954	1	OTUD4	4	146067419	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8106	146067419	45086857	4094	27596											
OTUD4	54726	broad.mit.edu	37	chr4	146092833	146092833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgacatacctgtggattttCcaaacgctttaaatattctt	11	16	6	8	1	1	1	0	1	1	0	2	2	2	2	2	1	2	1	2	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146092833C>T	ENST00000454497.2	-	3	225	c.88G>A	c.(88-90)Gaa>Aaa	p.E30K	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000509620.2_Missense_Mutation_p.E30K|OTUD4_ENST00000447906.2_Missense_Mutation_p.E95K|OTUD4_ENST00000296579.6_Missense_Mutation_p.E30K	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	95							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					TGTGGATTTTCCAAACGCTTT	0.254													T	146092833	C	T	146092833	3	4	364	1	0	0	0	0	1	0	0	0	11390	864	30	2	3141	2	OTUD4	4	146092833	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25414	146092833	45061443	4095	27597											
SMAD1	4086	broad.mit.edu	37	chr4	146435905	146435905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgaagaaaaagaaaggtgCcatggaggaactggaaaagg	19	4	14	4	0	0	3	0	1	0	2	0	6	0	6	1	5	2	0	1	5	7	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146435905C>T	ENST00000515385.1	+	2	682	c.140C>T	c.(139-141)gCc>gTc	p.A47V	SMAD1_ENST00000302085.4_Missense_Mutation_p.A47V|SMAD1_ENST00000394092.2_Missense_Mutation_p.A47V|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	47	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AAGAAAGGTGCCATGGAGGAA	0.512													T	146435905	C	T	146435905	3	4	364	1	0	0	0	0	1	0	0	0	14851	739	26	2	142	2	SMAD1	4	146435905	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343072	146435905	44718371	4096	27598											
SMAD1	4086	broad.mit.edu	37	chr4	146475083	146475083	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtgggtgtagtctgaaaaTttttaacaaccaagaatttg	14	14	9	4	0	1	2	0	1	1	1	1	2	1	2	1	1	2	1	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146475083T>A	ENST00000515385.1	+	6	1687	c.1145T>A	c.(1144-1146)aTt>aAt	p.I382N	SMAD1_ENST00000302085.4_Missense_Mutation_p.I382N|SMAD1_ENST00000394092.2_Missense_Mutation_p.I382N			Q15797	SMAD1_HUMAN	SMAD family member 1	382	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					AGTCTGAAAATTTTTAACAAC	0.398													A	146475083	T	A	146475083	3	1	364	1	0	0	0	0	1	0	0	0	14851	1493	52	5	1163	5	SMAD1	4	146475083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39178	146475083	44679193	4097	27599											
ZNF827	152485	broad.mit.edu	37	chr4	146824126	146824126	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggtgatcttgacactgCagtgagtctcgcaggacctc	10	9	12	10	1	2	3	0	3	2	0	4	5	2	4	1	2	1	2	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:146824126C>A	ENST00000508784.1	-	2	512	c.285G>T	c.(283-285)ctG>ctT	p.L95L	ZNF827_ENST00000379448.4_Silent_p.L95L|ZNF827_ENST00000513320.1_Intron			Q17R98	ZN827_HUMAN	zinc finger protein 827	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					CTTGACACTGCAGTGAGTCTC	0.602													A	146824126	C	A	146824126	2	1	364	1	0	0	0	0	0	0	0	1	18279	697	25	4		4	ZNF827	4	146824126	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	349043	146824126	44330150	4098	27600											
SLC10A7	84068	broad.mit.edu	37	chr4	147215246	147215246	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttgatgtatcttcggacaAtctgaaatacagagatcaac	14	11	7	9	1	3	3	1	2	2	1	4	5	3	4	1	1	2	1	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147215246A>G	ENST00000432059.2	-	7	764	c.518T>C	c.(517-519)aTt>aCt	p.I173T	SLC10A7_ENST00000264986.3_3'UTR|SLC10A7_ENST00000335472.7_Splice_Site_p.I186T|SLC10A7_ENST00000507030.1_Splice_Site_p.I186T|SLC10A7_ENST00000394062.3_Splice_Site_p.I186T			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	186						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					TCTTCGGACAATCTGAAATAC	0.423													G	147215246	A	G	147215246	5	3	364	1	0	0	0	0	0	0	1	0	14473	115	4	3	485	3	SLC10A7	4	147215246	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	391120	147215246	43939030	4099	27601											
TTC29	83894	broad.mit.edu	37	chr4	147741308	147741308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgtccccaagcattgtaCttgctctcaccaaatctagg	11	11	7	12	0	2	1	1	0	2	1	4	1	3	1	3	1	3	3	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147741308C>T	ENST00000513335.1	-	11	1347	c.1148G>A	c.(1147-1149)aGt>aAt	p.S383N	TTC29_ENST00000398886.4_Missense_Mutation_p.S383N|TTC29_ENST00000325106.4_Missense_Mutation_p.S357N			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	357							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAGCATTGTACTTGCTCTCAC	0.338													T	147741308	C	T	147741308	3	4	364	1	0	0	0	0	1	0	0	0	16798	565	20	2	373	2	TTC29	4	147741308	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	526062	147741308	43412968	4100	27602											
TTC29	83894	broad.mit.edu	37	chr4	147824791	147824791	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatcttaaaacatcgtTcatagaagtggttccttacc	13	12	7	9	1	2	1	1	0	1	1	4	2	3	1	2	1	3	3	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:147824791T>A	ENST00000513335.1	-	7	768	c.569A>T	c.(568-570)gAa>gTa	p.E190V	TTC29_ENST00000398886.4_Missense_Mutation_p.E190V|TTC29_ENST00000325106.4_Missense_Mutation_p.E164V			Q8NA56	TTC29_HUMAN	tetratricopeptide repeat domain 29	164							binding			breast(2)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					AAAACATCGTTCATAGAAGTG	0.413													A	147824791	T	A	147824791	3	1	364	1	0	0	0	0	1	0	0	0	16798	1783	62	5	968	5	TTC29	4	147824791	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83483	147824791	43329485	4101	27603											
TMEM184C	55751	broad.mit.edu	37	chr4	148546069	148546069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaattatctaactaacCggtatccaaatctggtatta	14	14	4	9	1	2	0	0	0	2	0	3	0	3	0	3	2	3	2	3	2	9	7	rs142288581		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148546069C>T	ENST00000296582.3	+	4	980	c.406C>T	c.(406-408)Cgg>Tgg	p.R136W	TMEM184C_ENST00000508208.1_Missense_Mutation_p.R136W	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	136						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TCTAACTAACCGGTATCCAAA	0.383													T	148546069	C	T	148546069	3	4	364	1	0	0	0	0	1	0	0	0	16206	643	23	1	420	1	TMEM184C	4	148546069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	721278	148546069	42608207	4102	27604											
TMEM184C	55751	broad.mit.edu	37	chr4	148555495	148555495	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacactgtgactccccagacTacacctaccacagctaagat	13	7	5	16	0	0	3	0	1	0	2	1	3	1	3	4	0	3	1	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148555495T>C	ENST00000296582.3	+	10	1801	c.1227T>C	c.(1225-1227)acT>acC	p.T409T	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	409						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						CTCCCCAGACTACACCTACCA	0.423													C	148555495	T	C	148555495	2	2	364	1	0	0	0	0	0	0	0	1	16206	1509	53	3		3	TMEM184C	4	148555495	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9426	148555495	42598781	4103	27605											
PRMT10	90826	broad.mit.edu	37	chr4	148579097	148579097	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggaataccaatcttatcAggctttttagttgcaagact	13	13	7	8	0	2	1	1	0	1	1	2	2	2	2	1	2	2	3	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148579097A>T	ENST00000322396.6	-	8	1418	c.1176T>A	c.(1174-1176)ccT>ccA	p.P392P	PRMT10_ENST00000541232.1_Silent_p.P279P|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	392						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAATCTTATCAGGCTTTTTAG	0.328													T	148579097	A	T	148579097	2	4	364	1	0	0	0	0	0	0	0	1	12622	175	7	5		5	PRMT10	4	148579097	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23602	148579097	42575179	4104	27606											
PRMT10	90826	broad.mit.edu	37	chr4	148591866	148591866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctccaaataaacctgcatCgacagtttctgttacaacta	13	13	4	11	1	2	0	0	0	2	0	4	1	2	0	2	0	4	3	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148591866C>T	ENST00000322396.6	-	5	1014	c.772G>A	c.(772-774)Gat>Aat	p.D258N	PRMT10_ENST00000541232.1_Missense_Mutation_p.D145N|TMEM184C_ENST00000508208.1_Intron	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	258						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AAACCTGCATCGACAGTTTCT	0.328													T	148591866	C	T	148591866	3	4	364	1	0	0	0	0	1	0	0	0	12622	884	31	1	1797	1	PRMT10	4	148591866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12769	148591866	42562410	4105	27607											
ARHGAP10	79658	broad.mit.edu	37	chr4	148886181	148886181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttttttttggaagaaagcgGcagcccagaatctcgtgtta	10	14	10	7	2	1	2	0	0	1	2	2	3	1	3	1	2	2	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:148886181G>A	ENST00000336498.3	+	17	1696	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G135D	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	486	Rho-GAP.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		GAAGAAAGCGGCAGCCCAGAA	0.308													A	148886181	G	A	148886181	3	1	364	1	0	0	0	0	1	0	0	0	865	1203	42	2	1523	2	ARHGAP10	4	148886181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294315	148886181	42268095	4106	27608											
MAB21L2	10586	broad.mit.edu	37	chr4	151504852	151504852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgaccggcaagcagagctCggcagagagcgacgcctggg	9	3	17	12	4	0	3	0	1	0	2	1	5	0	3	2	3	3	5	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504852C>T	ENST00000317605.4	+	1	1776	c.671C>T	c.(670-672)tCg>tTg	p.S224L	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	224					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		AAGCAGAGCTCGGCAGAGAGC	0.637													T	151504852	C	T	151504852	3	4	364	1	0	0	0	0	1	0	0	0	9213	893	31	1	673	1	MAB21L2	4	151504852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2618671	151504852	39649424	4107	27609											
MAB21L2	10586	broad.mit.edu	37	chr4	151504913	151504913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaccgcctgctgatgggCggctgccgaaacaagtgcct	9	6	14	12	3	0	2	0	1	0	1	0	4	0	2	4	2	5	2	4	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151504913C>T	ENST00000317605.4	+	1	1837	c.732C>T	c.(730-732)ggC>ggT	p.G244G	LRBA_ENST00000535741.1_Intron|LRBA_ENST00000507224.1_Intron|LRBA_ENST00000357115.3_Intron|LRBA_ENST00000510413.1_Intron	NM_006439.4	NP_006430.1	Q9Y586	MB212_HUMAN	mab-21-like 2 (C. elegans)	244					nervous system development	nucleus				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(2)	21	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.159)		TGCTGATGGGCGGCTGCCGAA	0.637													T	151504913	C	T	151504913	2	4	364	1	0	0	0	0	0	0	0	1	9213	755	27	1		1	MAB21L2	4	151504913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	151504913	39649363	4108	27610											
LRBA	987	broad.mit.edu	37	chr4	151749600	151749600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacctcgctgattgcatCtgggcctgcactgacaccag	8	9	10	14	1	1	2	0	2	1	0	2	2	1	2	3	1	3	4	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151749600C>A	ENST00000535741.1	-	30	5376	c.4903G>T	c.(4903-4905)Gat>Tat	p.D1635Y	LRBA_ENST00000507224.1_Missense_Mutation_p.D1635Y|LRBA_ENST00000357115.3_Missense_Mutation_p.D1635Y|LRBA_ENST00000510413.1_Missense_Mutation_p.D1635Y			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	1635						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTGATTGCATCTGGGCCTGCA	0.483													A	151749600	C	A	151749600	3	1	364	1	0	0	0	0	1	0	0	0	9001	913	32	4	3804	4	LRBA	4	151749600	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	244687	151749600	39404676	4109	27611											
LRBA	987	broad.mit.edu	37	chr4	151791759	151791759	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatctgttctataagaatCtacagaagtaaaacaatgga	18	10	6	7	0	3	2	0	0	3	2	3	3	3	3	1	1	2	2	1	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151791759C>A	ENST00000535741.1	-	20	2841		c.e20-1		LRBA_ENST00000507224.1_Splice_Site|LRBA_ENST00000357115.3_Splice_Site|LRBA_ENST00000510413.1_Splice_Site			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing							endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					CTATAAGAATCTACAGAAGTA	0.313													A	151791759	C	A	151791759	5	1	364	1	0	0	0	0	0	0	1	0	9001	927	32	4	6380	4	LRBA	4	151791759	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42159	151791759	39362517	4110	27612											
LRBA	987	broad.mit.edu	37	chr4	151829607	151829607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggatggaatgtgttaaaaCtgcctttacatccttgtaag	11	15	9	6	0	0	0	0	0	0	0	1	2	1	2	2	2	3	2	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:151829607C>T	ENST00000535741.1	-	11	1845	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	LRBA_ENST00000507224.1_Missense_Mutation_p.V458I|LRBA_ENST00000357115.3_Missense_Mutation_p.V458I|LRBA_ENST00000510413.1_Missense_Mutation_p.V458I			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	458						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGTGTTAAAACTGCCTTTACA	0.328													T	151829607	C	T	151829607	3	4	364	1	0	0	0	0	1	0	0	0	9001	565	20	2	7411	2	LRBA	4	151829607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37848	151829607	39324669	4111	27613											
SH3D19	152503	broad.mit.edu	37	chr4	152048841	152048841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccttcctccccttcggtaCtatggccaacatactttttg	6	14	7	14	1	0	0	0	0	0	0	3	0	2	0	5	3	3	1	5	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152048841C>T	ENST00000409598.4	-	19	3283	c.2116G>A	c.(2116-2118)Gta>Ata	p.V706I	SH3D19_ENST00000427414.2_Missense_Mutation_p.V670I|SH3D19_ENST00000424281.1_Missense_Mutation_p.V670I|SH3D19_ENST00000304527.4_Missense_Mutation_p.V729I|SH3D19_ENST00000514152.1_Missense_Mutation_p.V706I|SH3D19_ENST00000409252.2_Missense_Mutation_p.V729I|SH3D19_ENST00000455740.1_Missense_Mutation_p.V706I			Q5HYK7	SH319_HUMAN	SH3 domain containing 19	729	SH3 4.				cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				CCCTTCGGTACTATGGCCAAC	0.358													T	152048841	C	T	152048841	3	4	364	1	0	0	0	0	1	0	0	0	14342	565	20	2	195	2	SH3D19	4	152048841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219234	152048841	39105435	4112	27614											
SH3D19	152503	broad.mit.edu	37	chr4	152070714	152070714	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgggtggttggattcCtgcaagtagcagagaatgct	9	11	14	7	0	0	2	0	1	0	1	1	4	1	3	2	3	3	5	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:152070714C>A	ENST00000409598.4	-	10	2083		c.e10-1		SH3D19_ENST00000427414.2_Splice_Site|SH3D19_ENST00000424281.1_Splice_Site|SH3D19_ENST00000304527.4_Splice_Site|SH3D19_ENST00000514152.1_Splice_Site|SH3D19_ENST00000409252.2_Splice_Site|SH3D19_ENST00000455740.1_Splice_Site			Q5HYK7	SH319_HUMAN	SH3 domain containing 19						cellular membrane organization|positive regulation of membrane protein ectodomain proteolysis|post-Golgi vesicle-mediated transport	cytosol|Golgi apparatus|nucleus|plasma membrane	proline-rich region binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(1)|skin(3)|urinary_tract(1)	20	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				GGTTGGATTCCTGCAAGTAGC	0.408													A	152070714	C	A	152070714	5	1	364	1	0	0	0	0	0	0	1	0	14342	695	24	4	1505	4	SH3D19	4	152070714	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21873	152070714	39083562	4113	27615											
FBXW7	55294	broad.mit.edu	37	chr4	153244280	153244280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaactgtaaacaggtcacaGcactctgatgcttgttggga	11	11	11	8	0	2	2	1	2	1	0	2	3	2	3	0	2	4	4	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153244280G>T	ENST00000281708.4	-	12	3106	c.1877C>A	c.(1876-1878)gCt>gAt	p.A626D	FBXW7_ENST00000393956.3_Missense_Mutation_p.A450D|FBXW7_ENST00000263981.5_Missense_Mutation_p.A546D|FBXW7_ENST00000603841.1_Missense_Mutation_p.A626D|FBXW7_ENST00000296555.5_Missense_Mutation_p.A508D|FBXW7_ENST00000603548.1_Missense_Mutation_p.A626D	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	626					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				ACAGGTCACAGCACTCTGATG	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								T	153244280	G	T	153244280	3	4	364	1	0	0	0	0	1	0	0	0	5818	971	34	4	250	4	FBXW7	4	153244280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1173566	153244280	37909996	4114	27616											
FBXW7	55294	broad.mit.edu	37	chr4	153303537	153303537	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacatgtaatacaggcaCattactaaaagctctaacca	16	10	4	11	0	2	0	0	0	2	0	2	0	2	0	1	1	5	3	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153303537C>T	ENST00000296555.5	-	0	130				FBXW7_ENST00000603841.1_Intron|FBXW7_ENST00000603548.1_Intron|FBXW7_ENST00000281708.4_Intron	NM_001013415.1	NP_001013433.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase						interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding			NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AATACAGGCACATTACTAAAA	0.348			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								T	153303537	C	T	153303537	1	4	364	1	0	0	0	0	0	0	0	0	5818	493	17	2		2	FBXW7	4	153303537	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59257	153303537	37850739	4115	27617											
TMEM154	201799	broad.mit.edu	37	chr4	153573838	153573838	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgtttagttctttttctTttatagtatgttgcaaggaa	8	21	7	5	0	2	0	0	0	2	0	2	1	2	1	1	1	1	5	1	1	6	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153573838T>A	ENST00000304385.3	-	2	537	c.306A>T	c.(304-306)aaA>aaT	p.K102N	TMEM154_ENST00000504064.1_Missense_Mutation_p.K102N	NM_152680.2	NP_689893.1	Q6P9G4	TM154_HUMAN	transmembrane protein 154	102						integral to membrane				kidney(2)|large_intestine(1)	3	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.138)				TTCTTTTTCTTTTATAGTATG	0.303													A	153573838	T	A	153573838	3	1	364	1	0	0	0	0	1	0	0	0	16171	1838	64	5	269	5	TMEM154	4	153573838	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	270301	153573838	37580438	4116	27618											
TIGD4	201798	broad.mit.edu	37	chr4	153691371	153691371	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccattgttcaaatacatcGgaggtcatccatgccattct	11	13	6	11	1	3	0	2	0	1	0	6	1	5	1	3	2	2	1	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153691371G>A	ENST00000304337.2	-	2	1606	c.786C>T	c.(784-786)tcC>tcT	p.S262S		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	262	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CAAATACATCGGAGGTCATCC	0.408													A	153691371	G	A	153691371	2	1	364	1	0	0	0	0	0	0	0	1	15998	1103	39	1		1	TIGD4	4	153691371	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117533	153691371	37462905	4117	27619											
ARFIP1	27236	broad.mit.edu	37	chr4	153750877	153750877	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaacatagctttaataGggtaagaacacttttctttc	12	15	7	7	1	1	2	0	1	1	1	3	2	1	2	0	1	3	2	0	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153750877G>T	ENST00000451320.2	+	2	256	c.92G>T	c.(91-93)aGg>aTg	p.R31M	ARFIP1_ENST00000353617.2_Splice_Site_p.R31M|ARFIP1_ENST00000429148.2_Splice_Site_p.R31M|ARFIP1_ENST00000356064.3_Splice_Site_p.R31M|ARFIP1_ENST00000405727.2_Splice_Site_p.R31M			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	31					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					AGCTTTAATAGGGTAAGAACA	0.338													T	153750877	G	T	153750877	5	4	364	1	0	0	0	0	0	0	1	0	857	1014	35	4	94	4	ARFIP1	4	153750877	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59506	153750877	37403399	4118	27620											
FHDC1	85462	broad.mit.edu	37	chr4	153886116	153886116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaaattgcatcatgttcaGaagactgctaggtgagcaag	15	9	11	6	0	2	3	2	1	0	2	2	4	2	3	0	1	3	4	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153886116G>A	ENST00000511601.1	+	9	1277	c.1089G>A	c.(1087-1089)caG>caA	p.Q363Q	FHDC1_ENST00000260008.3_Silent_p.Q363Q			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	363	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ATCATGTTCAGAAGACTGCTA	0.303													A	153886116	G	A	153886116	2	1	364	1	0	0	0	0	0	0	0	1	5925	933	33	2		2	FHDC1	4	153886116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135239	153886116	37268160	4119	27621											
FHDC1	85462	broad.mit.edu	37	chr4	153896906	153896906	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggacagccaagtctcCtccaaccctacatccagccc	10	6	8	17	0	1	0	0	0	1	0	4	1	3	1	6	2	4	0	6	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:153896906C>A	ENST00000511601.1	+	12	2651	c.2463C>A	c.(2461-2463)tcC>tcA	p.S821S	FHDC1_ENST00000260008.3_Silent_p.S821S			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	821					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					GCCAAGTCTCCTCCAACCCTA	0.662													A	153896906	C	A	153896906	2	1	364	1	0	0	0	0	0	0	0	1	5925	668	24	4		4	FHDC1	4	153896906	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10790	153896906	37257370	4120	27622											
MND1	84057	broad.mit.edu	37	chr4	154315439	154315439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagggaagtcaaaagcatgCaagcctacagaaaagcattg	17	6	11	7	0	1	2	1	1	0	1	1	3	1	3	1	1	5	3	1	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154315439C>T	ENST00000240488.3	+	5	391	c.302C>T	c.(301-303)gCa>gTa	p.A101V	MND1_ENST00000504860.1_Missense_Mutation_p.A86V	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	101					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CAAAAGCATGCAAGCCTACAG	0.333													T	154315439	C	T	154315439	3	4	364	1	0	0	0	0	1	0	0	0	9751	710	25	2	320	2	MND1	4	154315439	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418533	154315439	36838837	4121	27623											
MND1	84057	broad.mit.edu	37	chr4	154318427	154318427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcgagaccaaagggaacaGctaaaggcagaagtagaaaa	19	4	11	7	1	0	3	0	0	0	3	1	5	0	4	1	2	2	3	1	2	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154318427G>A	ENST00000240488.3	+	6	497	c.408G>A	c.(406-408)caG>caA	p.Q136Q	MND1_ENST00000504860.1_Silent_p.Q121Q	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	136					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					AAAGGGAACAGCTAAAGGCAG	0.373													A	154318427	G	A	154318427	2	1	364	1	0	0	0	0	0	0	0	1	9751	962	34	2		2	MND1	4	154318427	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2988	154318427	36835849	4122	27624											
KIAA0922	23240	broad.mit.edu	37	chr4	154525057	154525057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcaggatccagaatgctGcaaagaggagcccagccacc	15	3	11	12	0	0	2	0	0	0	2	1	4	1	4	4	2	5	3	4	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154525057G>A	ENST00000409663.3	+	25	2942	c.2890G>A	c.(2890-2892)Gca>Aca	p.A964T	KIAA0922_ENST00000440693.1_Missense_Mutation_p.A881T|KIAA0922_ENST00000409959.3_Missense_Mutation_p.A965T	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	964						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CCAGAATGCTGCAAAGAGGAG	0.498													A	154525057	G	A	154525057	3	1	364	1	0	0	0	0	1	0	0	0	8259	1319	46	2	2991	2	KIAA0922	4	154525057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206630	154525057	36629219	4123	27625											
KIAA0922	23240	broad.mit.edu	37	chr4	154541987	154541987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaaattggagtaaaagtcGaacatgtagaaagaacaaga	20	9	9	3	1	0	3	0	0	0	3	1	5	0	4	0	1	2	2	0	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154541987G>A	ENST00000409663.3	+	27	3696	c.3644G>A	c.(3643-3645)cGa>cAa	p.R1215Q	KIAA0922_ENST00000440693.1_Missense_Mutation_p.R1132Q|KIAA0922_ENST00000409959.3_Missense_Mutation_p.R1216Q	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1215						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				AGTAAAAGTCGAACATGTAGA	0.308													A	154541987	G	A	154541987	3	1	364	1	0	0	0	0	1	0	0	0	8259	1058	37	1	3753	1	KIAA0922	4	154541987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16930	154541987	36612289	4124	27626											
KIAA0922	23240	broad.mit.edu	37	chr4	154557572	154557572	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccccaccacggaacattcGacccacatggaaaaccaagc	16	3	6	16	2	0	0	0	0	0	0	1	3	0	2	5	2	4	0	5	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154557572G>A	ENST00000409663.3	+	35	4726	c.4674G>A	c.(4672-4674)tcG>tcA	p.S1558S	KIAA0922_ENST00000440693.1_Silent_p.S1475S|KIAA0922_ENST00000409959.3_Silent_p.S1559S	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	1558						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CGGAACATTCGACCCACATGG	0.522													A	154557572	G	A	154557572	2	1	364	1	0	0	0	0	0	0	0	1	8259	1045	37	1		1	KIAA0922	4	154557572	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15585	154557572	36596704	4125	27627											
TLR2	7097	broad.mit.edu	37	chr4	154625598	154625598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaggaatgcaataactacGttttctaaggagcaacttga	15	11	9	6	1	1	1	0	1	1	0	1	3	1	3	0	2	5	4	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154625598G>A	ENST00000260010.6	+	1	2947	c.1539G>A	c.(1537-1539)acG>acA	p.T513T		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	513					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATAACTACGTTTTCTAAGG	0.393													A	154625598	G	A	154625598	2	1	364	1	0	0	0	0	0	0	0	1	16051	1132	40	1		1	TLR2	4	154625598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68026	154625598	36528678	4126	27628											
RNF175	285533	broad.mit.edu	37	chr4	154649450	154649450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccacatagacagaaaccGccaccagtataattttatcg	14	8	5	14	2	0	2	0	0	0	2	1	2	0	2	5	0	1	1	5	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154649450G>A	ENST00000347063.4	-	4	682	c.310C>T	c.(310-312)Cgg>Tgg	p.R104W	RNF175_ENST00000506505.1_Intron|RNF175_ENST00000274068.4_Intron	NM_173662.2	NP_775933	Q8N4F7	RN175_HUMAN	ring finger protein 175	104						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				GACAGAAACCGCCACCAGTAT	0.448													A	154649450	G	A	154649450	3	1	364	1	0	0	0	0	1	0	0	0	13554	1086	38	1	700	1	RNF175	4	154649450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23852	154649450	36504826	4127	27629											
SFRP2	6423	broad.mit.edu	37	chr4	154709570	154709570	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggaaacggtcgcactcaaGcatgtcgggccaggggaagc	10	4	17	10	3	1	0	1	0	0	0	3	2	1	2	1	6	3	2	1	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:154709570G>T	ENST00000274063.4	-	1	702	c.418C>A	c.(418-420)Ctt>Att	p.L140I		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	140	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				TCGCACTCAAGCATGTCGGGC	0.642													T	154709570	G	T	154709570	3	4	364	1	0	0	0	0	1	0	0	0	14255	971	34	4	481	4	SFRP2	4	154709570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60120	154709570	36444706	4128	27630											
DCHS2	54798	broad.mit.edu	37	chr4	155160378	155160378	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaattctgtaagaaatgTtctcattgctttctaagtct	12	17	6	6	0	4	2	1	0	4	2	5	2	4	2	0	0	1	3	0	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155160378T>G	ENST00000357232.4	-	24	6070	c.6071A>C	c.(6070-6072)aAc>aCc	p.N2024T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 18.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTAAGAAATGTTCTCATTGCT	0.383													G	155160378	T	G	155160378	3	3	364	1	0	0	0	0	1	0	0	0	4322	1725	60	5	2687	5	DCHS2	4	155160378	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	450808	155160378	35993898	4129	27631											
DCHS2	54798	broad.mit.edu	37	chr4	155219766	155219766	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagagcacagaatgacaagGgtaaaattgctgatttgctc	14	10	10	7	0	1	4	1	2	0	2	2	4	1	4	0	1	3	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219766G>T	ENST00000357232.4	-	18	4334	c.4335C>A	c.(4333-4335)acC>acA	p.T1445T		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GAATGACAAGGGTAAAATTGC	0.438													T	155219766	G	T	155219766	2	4	364	1	0	0	0	0	0	0	0	1	4322	1219	43	4		4	DCHS2	4	155219766	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59388	155219766	35934510	4130	27632											
DCHS2	54798	broad.mit.edu	37	chr4	155219800	155219800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctcccggtccaaagcaCgagtggttgagagttctcct	7	12	11	11	2	1	1	0	1	1	1	4	3	3	1	3	2	2	4	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155219800C>T	ENST00000357232.4	-	18	4300	c.4301G>A	c.(4300-4302)cGt>cAt	p.R1434H		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 12.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCAAAGCACGAGTGGTTGA	0.393													T	155219800	C	T	155219800	3	4	364	1	0	0	0	0	1	0	0	0	4322	536	19	1	4481	1	DCHS2	4	155219800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	155219800	35934476	4131	27633											
DCHS2	54798	broad.mit.edu	37	chr4	155242188	155242188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtctccggttgagctgtCtatttcaaagtgtccatcct	8	14	8	11	1	3	1	1	1	2	0	6	1	5	1	3	1	1	2	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155242188C>A	ENST00000357232.4	-	14	2997	c.2998G>T	c.(2998-3000)Gac>Tac	p.D1000Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 8.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTTGAGCTGTCTATTTCAAAG	0.348													A	155242188	C	A	155242188	3	1	364	1	0	0	0	0	1	0	0	0	4322	913	32	4	5800	4	DCHS2	4	155242188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22388	155242188	35912088	4132	27634											
PLRG1	5356	broad.mit.edu	37	chr4	155463420	155463420	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcgaacccagccaagatgCccactgataacctgtataaa	15	7	6	13	1	0	2	0	1	0	1	1	3	0	2	4	0	4	1	4	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155463420C>T	ENST00000499023.2	-	8	732	c.606G>A	c.(604-606)ggG>ggA	p.G202G	PLRG1_ENST00000393905.2_Silent_p.G202G|PLRG1_ENST00000302078.5_Silent_p.G193G	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	202						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity	p.G202G(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				AGCCAAGATGCCCACTGATAA	0.413													T	155463420	C	T	155463420	2	4	364	1	0	0	0	0	0	0	0	1	12183	726	26	2		2	PLRG1	4	155463420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221232	155463420	35690856	4133	27635											
PLRG1	5356	broad.mit.edu	37	chr4	155468979	155468979	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaccatactcattacgaAgcttgattgccatttttcgt	10	14	7	10	2	1	1	1	1	0	0	2	3	1	2	2	1	4	1	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155468979A>C	ENST00000499023.2	-	3	269	c.143T>G	c.(142-144)cTt>cGt	p.L48R	PLRG1_ENST00000393905.2_Missense_Mutation_p.L48R|PLRG1_ENST00000302078.5_Missense_Mutation_p.L48R	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	48						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CTCATTACGAAGCTTGATTGC	0.333													C	155468979	A	C	155468979	3	2	364	1	0	0	0	0	1	0	0	0	12183	72	3	5	1453	5	PLRG1	4	155468979	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5559	155468979	35685297	4134	27636											
FGA	2243	broad.mit.edu	37	chr4	155505592	155505592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaatcagagcatcacccGcagtgccttcataggaggag	11	7	10	13	1	4	1	4	0	0	1	4	3	4	3	3	2	2	2	3	2	2	2	rs150073296	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155505592G>A	ENST00000302053.3	-	6	2363	c.2285C>T	c.(2284-2286)gCg>gTg	p.A762V		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	762	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCATCACCCGCAGTGCCTTC	0.542													A	155505592	G	A	155505592	3	1	364	1	0	0	0	0	1	0	0	0	5879	1087	38	1	319	1	FGA	4	155505592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36613	155505592	35648684	4135	27637											
FGA	2243	broad.mit.edu	37	chr4	155506809	155506809	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaatgtggagtctcctCtgttgtaactcgtgctacta	8	16	8	9	1	3	0	1	0	2	0	5	1	3	1	1	1	3	3	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155506809C>A	ENST00000302053.3	-	5	1850	c.1772G>T	c.(1771-1773)aGa>aTa	p.R591I	FGA_ENST00000403106.3_Missense_Mutation_p.R591I	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	591					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GGAGTCTCCTCTGTTGTAACT	0.453													A	155506809	C	A	155506809	3	1	364	1	0	0	0	0	1	0	0	0	5879	913	32	4	880	4	FGA	4	155506809	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1217	155506809	35647467	4136	27638											
FGA	2243	broad.mit.edu	37	chr4	155507082	155507082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtacctatgccagacAatgtgcctaaatccattgcc	12	9	7	13	0	0	2	0	0	0	2	1	2	1	2	6	0	4	1	6	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155507082A>G	ENST00000302053.3	-	5	1577	c.1499T>C	c.(1498-1500)tTg>tCg	p.L500S	FGA_ENST00000403106.3_Missense_Mutation_p.L500S	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	500					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TATGCCAGACAATGTGCCTAA	0.488													G	155507082	A	G	155507082	3	3	364	1	0	0	0	0	1	0	0	0	5879	131	5	3	1153	3	FGA	4	155507082	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	273	155507082	35647194	4137	27639											
LRAT	9227	broad.mit.edu	37	chr4	155665575	155665575	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgggcgccgcgggcgaaGacaaagggaggaacagtttt	10	6	17	8	5	0	1	0	0	0	1	1	4	0	3	1	4	1	2	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665575G>T	ENST00000336356.3	+	2	350	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	LRAT_ENST00000507827.1_Missense_Mutation_p.D33Y	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	33					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	CGCGGGCGAAGACAAAGGGAG	0.562													T	155665575	G	T	155665575	3	4	364	1	0	0	0	0	1	0	0	0	9000	942	33	4	99	4	LRAT	4	155665575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158493	155665575	35488701	4138	27640											
LRAT	9227	broad.mit.edu	37	chr4	155665697	155665697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacaaccgtgttgcccacatGatgcccgacatcctgttggc	8	9	10	14	2	0	1	0	1	0	0	1	3	1	1	4	1	3	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155665697G>A	ENST00000336356.3	+	2	472	c.219G>A	c.(217-219)atG>atA	p.M73I	LRAT_ENST00000507827.1_Missense_Mutation_p.M73I	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	73					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TTGCCCACATGATGCCCGACA	0.587													A	155665697	G	A	155665697	3	1	364	1	0	0	0	0	1	0	0	0	9000	1290	45	2	221	2	LRAT	4	155665697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122	155665697	35488579	4139	27641											
LRAT	9227	broad.mit.edu	37	chr4	155670276	155670276	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttattccattcttcctatgGatggctggctaacttcatac	8	17	6	10	0	2	0	1	0	1	0	4	1	4	1	2	3	2	2	2	3	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:155670276G>A	ENST00000336356.3	+	3	934	c.681G>A	c.(679-681)tgG>tgA	p.W227*	LRAT_ENST00000507827.1_Nonsense_Mutation_p.W227*	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	227					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	TCTTCCTATGGATGGCTGGCT	0.383													A	155670276	G	A	155670276	4	1	364	1	0	0	0	0	0	1	0	0	9000	1183	41	2	687	2	LRAT	4	155670276	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4579	155670276	35484000	4140	27642											
GUCY1A3	2982	broad.mit.edu	37	chr4	156634624	156634624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accatgctcttctcagacatCgttgggttcactgccatctg	7	13	8	13	1	4	1	2	0	3	1	6	1	4	1	2	1	2	3	2	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:156634624C>T	ENST00000296518.7	+	7	1670	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	GUCY1A3_ENST00000393832.3_Silent_p.I229I|GUCY1A3_ENST00000511507.1_Silent_p.I487I|GUCY1A3_ENST00000455639.2_Silent_p.I487I|GUCY1A3_ENST00000511108.1_Silent_p.I487I|GUCY1A3_ENST00000506455.1_Silent_p.I487I|GUCY1A3_ENST00000513574.1_Silent_p.I487I			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	487	Guanylate cyclase.				blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCTCAGACATCGTTGGGTTCA	0.537													T	156634624	C	T	156634624	2	4	364	1	0	0	0	0	0	0	0	1	6949	874	31	1		1	GUCY1A3	4	156634624	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	964348	156634624	34519652	4141	27643											
PDGFC	56034	broad.mit.edu	37	chr4	157688928	157688928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattgtatacctacctcGtggtattttttagtaacttt	11	18	6	6	1	0	0	0	0	0	0	1	1	0	0	2	1	3	3	2	1	8	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:157688928G>A	ENST00000502773.1	-	5	1408	c.918C>T	c.(916-918)caC>caT	p.H306H	PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000541126.1_Silent_p.H143H|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Silent_p.H151H	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	306					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TACCTACCTCGTGGTATTTTT	0.383													A	157688928	G	A	157688928	2	1	364	1	0	0	0	0	0	0	0	1	11735	1136	40	1		1	PDGFC	4	157688928	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1054304	157688928	33465348	4142	27644											
GLRB	2743	broad.mit.edu	37	chr4	158057822	158057822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatcctcctctttatttttCgtgatggagatgtccttgtc	6	18	7	10	1	1	2	0	1	1	1	6	3	4	2	3	1	0	0	3	1	1	5	rs145671356		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158057822C>T	ENST00000264428.4	+	5	769	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.R167C|GLRB_ENST00000541722.1_Missense_Mutation_p.R167C	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	167					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity	p.R167C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	CTTTATTTTTCGTGATGGAGA	0.318													T	158057822	C	T	158057822	3	4	364	1	0	0	0	0	1	0	0	0	6514	884	31	1	513	1	GLRB	4	158057822	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	368894	158057822	33096454	4143	27645											
GRIA2	2891	broad.mit.edu	37	chr4	158257783	158257783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgagtggcacactgaggaGtttgaagatggaagagaaac	15	7	14	5	1	0	4	0	2	0	2	0	8	0	6	0	3	2	2	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257783G>T	ENST00000296526.7	+	11	2053	c.1728G>T	c.(1726-1728)gaG>gaT	p.E576D	GRIA2_ENST00000449365.1_Missense_Mutation_p.E529D|GRIA2_ENST00000507898.1_Missense_Mutation_p.E529D|GRIA2_ENST00000393815.2_Missense_Mutation_p.E529D|GRIA2_ENST00000264426.9_Missense_Mutation_p.E576D	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	576					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACTGAGGAGTTTGAAGATG	0.418													T	158257783	G	T	158257783	3	4	364	1	0	0	0	0	1	0	0	0	6823	1020	36	4	1770	4	GRIA2	4	158257783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199961	158257783	32896493	4144	27646											
GRIA2	2891	broad.mit.edu	37	chr4	158257812	158257812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagaaacacaaagtaGtgaatcaactaatgaatttg	19	9	9	4	0	1	3	1	2	0	1	1	5	1	4	0	1	2	1	0	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:158257812G>T	ENST00000296526.7	+	11	2082	c.1757G>T	c.(1756-1758)aGt>aTt	p.S586I	GRIA2_ENST00000449365.1_Missense_Mutation_p.S539I|GRIA2_ENST00000507898.1_Missense_Mutation_p.S539I|GRIA2_ENST00000393815.2_Missense_Mutation_p.S539I|GRIA2_ENST00000264426.9_Missense_Mutation_p.S586I	NM_000826.3	NP_000817	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	586					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	L-Glutamic Acid(DB00142)	ACACAAAGTAGTGAATCAACT	0.433													T	158257812	G	T	158257812	3	4	364	1	0	0	0	0	1	0	0	0	6823	1029	36	4	1799	4	GRIA2	4	158257812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	158257812	32896464	4145	27647											
RXFP1	59350	broad.mit.edu	37	chr4	159533502	159533502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacattttatggactaaattCtcttattctcttgtaagtac	12	18	4	7	0	2	0	0	0	2	0	4	1	2	1	0	1	2	2	0	1	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159533502C>T	ENST00000307765.5	+	8	919	c.668C>T	c.(667-669)tCt>tTt	p.S223F	RXFP1_ENST00000343542.5_Missense_Mutation_p.S223F|RXFP1_ENST00000470033.1_Missense_Mutation_p.S190F|RXFP1_ENST00000460056.2_Missense_Mutation_p.S142F|RXFP1_ENST00000448688.2_Missense_Mutation_p.S142F	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	223						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding	p.S223Y(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		GGACTAAATTCTCTTATTCTC	0.274													T	159533502	C	T	159533502	3	4	364	1	0	0	0	0	1	0	0	0	13850	913	32	2	698	2	RXFP1	4	159533502	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1275690	159533502	31620774	4146	27648											
RXFP1	59350	broad.mit.edu	37	chr4	159569700	159569700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttttcctatggaagcatGttttatagtgttcatcaaag	10	18	8	5	0	2	0	2	0	0	0	3	1	3	1	1	1	1	4	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159569700G>A	ENST00000307765.5	+	17	2057	c.1806G>A	c.(1804-1806)atG>atA	p.M602I	RXFP1_ENST00000343542.5_Missense_Mutation_p.M554I|RXFP1_ENST00000470033.1_Missense_Mutation_p.M569I|RXFP1_ENST00000460056.2_Missense_Mutation_p.M521I|RXFP1_ENST00000448688.2_Missense_Mutation_p.M497I	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	602						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		ATGGAAGCATGTTTTATAGTG	0.289													A	159569700	G	A	159569700	3	1	364	1	0	0	0	0	1	0	0	0	13850	1377	48	2	1872	2	RXFP1	4	159569700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36198	159569700	31584576	4147	27649											
ETFDH	2110	broad.mit.edu	37	chr4	159606352	159606352	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtgttgaagtataccCtggttatgcagctgctgagg	7	13	13	8	0	0	2	0	2	0	0	0	2	0	2	2	3	4	6	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159606352C>A	ENST00000511912.1	+	5	919	c.587C>A	c.(586-588)cCt>cAt	p.P196H	ETFDH_ENST00000307738.5_Missense_Mutation_p.P149H	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	196					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GAAGTATACCCTGGTTATGCA	0.368													A	159606352	C	A	159606352	3	1	364	1	0	0	0	0	1	0	0	0	5312	681	24	4	605	4	ETFDH	4	159606352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36652	159606352	31547924	4148	27650											
ETFDH	2110	broad.mit.edu	37	chr4	159624692	159624692	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtggaattttagcagcaGaatctatttttaatcaacta	16	14	6	5	0	2	1	1	0	1	1	2	2	2	2	0	1	3	2	0	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159624692G>T	ENST00000511912.1	+	10	1566	c.1234G>T	c.(1234-1236)Gaa>Taa	p.E412*	ETFDH_ENST00000307738.5_Nonsense_Mutation_p.E365*	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	412					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		TTTAGCAGCAGAATCTATTTT	0.338													T	159624692	G	T	159624692	4	4	364	1	0	0	0	0	0	1	0	0	5312	943	33	4	1272	4	ETFDH	4	159624692	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18340	159624692	31529584	4149	27651											
PPID	5481	broad.mit.edu	37	chr4	159642600	159642600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attttccgcagttttgggtaCgatatctgcaaacaattcta	11	15	7	8	2	2	0	0	0	2	0	3	1	3	0	1	1	3	4	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159642600C>T	ENST00000307720.3	-	2	228	c.121G>A	c.(121-123)Gta>Ata	p.V41I		NM_005038.2	NP_005029.1	Q08752	PPID_HUMAN	peptidylprolyl isomerase D	41	PPIase cyclophilin-type.				protein folding	cytoplasm|intermediate filament cytoskeleton	cyclosporin A binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0159)		GTTTTGGGTACGATATCTGCA	0.378													T	159642600	C	T	159642600	3	4	364	1	0	0	0	0	1	0	0	0	12403	536	19	1	1027	1	PPID	4	159642600	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17908	159642600	31511676	4150	27652											
FNIP2	57600	broad.mit.edu	37	chr4	159791564	159791564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcttgtgcttcatgggacCggcagtgatgagaagctgaa	10	10	14	7	1	2	3	1	3	1	1	2	6	2	4	1	2	2	3	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:159791564C>T	ENST00000264433.6	+	14	2967	c.2892C>T	c.(2890-2892)acC>acT	p.T964T	FNIP2_ENST00000379346.3_Silent_p.T987T	NM_020840.1	NP_065891.1	Q9P278	FNIP2_HUMAN	folliculin interacting protein 2	964					DNA damage response, signal transduction resulting in induction of apoptosis|protein phosphorylation|regulation of protein phosphorylation	cytoplasm	protein binding	p.T964T(1)|p.T290T(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.00936)		TTCATGGGACCGGCAGTGATG	0.562													T	159791564	C	T	159791564	2	4	364	1	0	0	0	0	0	0	0	1	6025	639	23	1		1	FNIP2	4	159791564	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148964	159791564	31362712	4151	27653											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251596	160251596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttttctttctagcccaatGgaagtgggcaaaaagttatt	12	14	8	7	0	2	0	0	0	2	0	2	1	2	1	1	2	1	2	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160251596G>A	ENST00000264431.4	+	7	1349	c.930G>A	c.(928-930)atG>atA	p.M310I		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	310	N-terminal Ras-GEF.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CTAGCCCAATGGAAGTGGGCA	0.368													A	160251596	G	A	160251596	3	1	364	1	0	0	0	0	1	0	0	0	13132	1348	47	2	956	2	RAPGEF2	4	160251596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	460032	160251596	30902680	4152	27654											
RAPGEF2	9693	broad.mit.edu	37	chr4	160252938	160252938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctttgttgacagtgtaGattcaggtagcaaagcaact	13	12	10	6	0	2	2	1	1	1	1	2	3	2	2	0	1	3	5	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160252938G>T	ENST00000264431.4	+	9	1668	c.1249G>T	c.(1249-1251)Gat>Tat	p.D417Y		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	417	PDZ.				cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		TGACAGTGTAGATTCAGGTAG	0.413													T	160252938	G	T	160252938	3	4	364	1	0	0	0	0	1	0	0	0	13132	942	33	4	1283	4	RAPGEF2	4	160252938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	160252938	30901338	4153	27655											
RAPGEF2	9693	broad.mit.edu	37	chr4	160277280	160277280	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgcgcctcgccccctatCagtcccaagggttttccacc	6	8	7	20	3	1	0	1	0	0	0	4	0	3	0	7	1	0	1	7	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:160277280C>T	ENST00000264431.4	+	23	4863	c.4444C>T	c.(4444-4446)Cag>Tag	p.Q1482*		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	1482					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		CGCCCCCTATCAGTCCCAAGG	0.522													T	160277280	C	T	160277280	4	4	364	1	0	0	0	0	0	1	0	0	13132	827	29	2	4534	2	RAPGEF2	4	160277280	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24342	160277280	30876996	4154	27656											
FSTL5	56884	broad.mit.edu	37	chr4	162306918	162306918	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaggcatctccaacccaaAtgactgtatttcctttttca	10	16	4	11	0	2	1	1	1	1	0	4	1	3	1	3	1	1	2	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162306918A>C	ENST00000306100.5	-	16	2961	c.2525T>G	c.(2524-2526)aTt>aGt	p.I842S	FSTL5_ENST00000427802.2_Missense_Mutation_p.I832S|FSTL5_ENST00000379164.4_Missense_Mutation_p.I841S|RP11-234O6.2_ENST00000508189.1_RNA|FSTL5_ENST00000536695.1_Missense_Mutation_p.I841S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	842						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCCAACCCAAATGACTGTATT	0.348													C	162306918	A	C	162306918	3	2	364	1	0	0	0	0	1	0	0	0	6132	101	4	5	22	5	FSTL5	4	162306918	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2029638	162306918	28847358	4155	27657											
FSTL5	56884	broad.mit.edu	37	chr4	162402263	162402263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgtctttgacattaacaGctgatgcccacacacacctc	11	11	5	14	0	1	2	0	2	1	0	2	2	1	2	2	0	3	1	2	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:162402263G>A	ENST00000306100.5	-	13	1953	c.1517C>T	c.(1516-1518)gCt>gTt	p.A506V	FSTL5_ENST00000427802.2_Missense_Mutation_p.A496V|FSTL5_ENST00000379164.4_Missense_Mutation_p.A505V|FSTL5_ENST00000536695.1_Missense_Mutation_p.A505V	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	506						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		GACATTAACAGCTGATGCCCA	0.383													A	162402263	G	A	162402263	3	1	364	1	0	0	0	0	1	0	0	0	6132	971	34	2	1042	2	FSTL5	4	162402263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95345	162402263	28752013	4156	27658											
NAF1	92345	broad.mit.edu	37	chr4	164050495	164050495	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtacttcagtaaaatCttcacctttgagtgagggga	11	13	10	7	0	3	3	2	3	1	0	3	4	3	4	1	2	1	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164050495C>A	ENST00000274054.2	-	8	1232	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	347					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAGTAAAATCTTCACCTTTG	0.343													A	164050495	C	A	164050495	3	1	364	1	0	0	0	0	1	0	0	0	10216	913	32	4	590	4	NAF1	4	164050495	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1648232	164050495	27103781	4157	27659											
NPY1R	4886	broad.mit.edu	37	chr4	164246906	164246906	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcctttttaggcgtataTatatctatggaagaaaaaag	14	15	7	5	1	2	1	0	0	2	1	3	2	2	2	1	2	0	1	1	2	10	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:164246906T>C	ENST00000509586.1	-	0	236				NPY1R_ENST00000296533.2_Missense_Mutation_p.Y235C			P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1						inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TAGGCGTATATATATCTATGG	0.313													C	164246906	T	C	164246906	1	2	364	1	0	0	0	0	0	0	0	0	10684	1406	49	3		3	NPY1R	4	164246906	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	196411	164246906	26907370	4158	27660											
TRIM60	166655	broad.mit.edu	37	chr4	165961663	165961663	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagagaaattctagaaggtAgccttgagcccttgaggaat	14	9	11	7	0	1	4	0	2	1	2	1	6	1	5	2	2	2	1	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:165961663A>G	ENST00000512596.1	+	3	655	c.439A>G	c.(439-441)Agc>Ggc	p.S147G	TRIM60_ENST00000508504.1_Missense_Mutation_p.S147G|TRIM60_ENST00000341062.5_Missense_Mutation_p.S147G	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	147						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TCTAGAAGGTAGCCTTGAGCC	0.393													G	165961663	A	G	165961663	3	3	364	1	0	0	0	0	1	0	0	0	16636	420	15	3	441	3	TRIM60	4	165961663	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1714757	165961663	25192613	4159	27661											
KLHL2	11275	broad.mit.edu	37	chr4	166226860	166226860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaagtagcagagttgccttCcaggaggtgcagggcaggta	10	7	15	9	0	0	1	0	0	0	1	1	2	1	2	3	4	3	6	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166226860C>T	ENST00000226725.6	+	9	1281	c.1022C>T	c.(1021-1023)tCc>tTc	p.S341F	KLHL2_ENST00000509028.1_Intron|KLHL2_ENST00000506761.1_Missense_Mutation_p.S175F|KLHL2_ENST00000538127.1_Missense_Mutation_p.S253F|KLHL2_ENST00000421009.2_Missense_Mutation_p.S244F|KLHL2_ENST00000514860.1_Missense_Mutation_p.S345F	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	341					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		GAGTTGCCTTCCAGGAGGTGC	0.463													T	166226860	C	T	166226860	3	4	364	1	0	0	0	0	1	0	0	0	8432	855	30	2	1098	2	KLHL2	4	166226860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265197	166226860	24927416	4160	27662											
CPE	1363	broad.mit.edu	37	chr4	166414350	166414350	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagttaaaggatttgtcCgagaccttcaaggtaaccca	13	9	11	8	1	1	1	1	0	0	1	2	5	2	3	3	3	1	2	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166414350C>T	ENST00000402744.4	+	7	1421	c.1141C>T	c.(1141-1143)Cga>Tga	p.R381*		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	381					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGATTTGTCCGAGACCTTCA	0.403											OREG0016391	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	166414350	C	T	166414350	4	4	364	1	0	0	0	0	0	1	0	0	3830	644	23	1	1167	1	CPE	4	166414350	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187490	166414350	24739926	4161	27663											
TLL1	7092	broad.mit.edu	37	chr4	166963178	166963178	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttattcttttatttcttttaGgtagattctgtggggacaaa	9	20	8	4	0	3	1	0	0	3	1	3	2	3	2	0	3	0	1	0	3	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166963178G>T	ENST00000061240.2	+	11	1908		c.e11-1		TLL1_ENST00000507499.1_Splice_Site	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1						cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		ATTTCTTTTAGGTAGATTCTG	0.353													T	166963178	G	T	166963178	5	4	364	1	0	0	0	0	0	0	1	0	16045	1014	35	4	1303	4	TLL1	4	166963178	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	548828	166963178	24191098	4162	27664											
TLL1	7092	broad.mit.edu	37	chr4	166964527	166964527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgtgtggaaaataacaGtgtctgagagctaccacgtc	13	10	11	7	1	1	1	0	1	1	1	2	3	1	2	1	1	3	1	1	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964527G>T	ENST00000061240.2	+	12	2127	c.1480G>T	c.(1480-1482)Gtg>Ttg	p.V494L	TLL1_ENST00000507499.1_Missense_Mutation_p.V494L	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	494	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAAAATAACAGTGTCTGAGAG	0.433													T	166964527	G	T	166964527	3	4	364	1	0	0	0	0	1	0	0	0	16045	1029	36	4	1526	4	TLL1	4	166964527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1349	166964527	24189749	4163	27665											
TLL1	7092	broad.mit.edu	37	chr4	166964541	166964541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataacagtgtctgagagctaCcacgtcgggctgacctttca	10	10	10	11	2	2	2	1	2	1	1	3	3	2	2	2	1	3	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166964541C>T	ENST00000061240.2	+	12	2141	c.1494C>T	c.(1492-1494)taC>taT	p.Y498Y	TLL1_ENST00000507499.1_Silent_p.Y498Y	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	498	CUB 2.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CTGAGAGCTACCACGTCGGGC	0.418													T	166964541	C	T	166964541	2	4	364	1	0	0	0	0	0	0	0	1	16045	518	18	2		2	TLL1	4	166964541	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	166964541	24189735	4164	27666											
TLL1	7092	broad.mit.edu	37	chr4	166999172	166999172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgccactcctggccaccGaatcaaattagtaagtgagc	12	7	9	13	2	1	1	1	1	0	0	2	2	2	1	4	1	2	1	4	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:166999172G>A	ENST00000061240.2	+	18	3079	c.2432G>A	c.(2431-2433)cGa>cAa	p.R811Q	TLL1_ENST00000507499.1_Missense_Mutation_p.R834Q	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	811	CUB 4.				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.R811Q(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		CCTGGCCACCGAATCAAATTA	0.458													A	166999172	G	A	166999172	3	1	364	1	0	0	0	0	1	0	0	0	16045	1058	37	1	2502	1	TLL1	4	166999172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34631	166999172	24155104	4165	27667											
ANXA10	11199	broad.mit.edu	37	chr4	169105788	169105788	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctgctgaccataaggaaaCgatacaaagagcgatatgga	17	6	10	8	2	0	2	0	1	0	1	0	6	0	4	2	2	4	1	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169105788C>T	ENST00000359299.3	+	11	1048	c.862C>T	c.(862-864)Cga>Tga	p.R288*		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	288							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		CATAAGGAAACGATACAAAGA	0.363													T	169105788	C	T	169105788	4	4	364	1	0	0	0	0	0	1	0	0	715	528	19	1	904	1	ANXA10	4	169105788	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2106616	169105788	22048488	4166	27668											
DDX60	55601	broad.mit.edu	37	chr4	169172246	169172246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttactcgaccaaatacCttctgcaaagtctaaaagaa	17	11	4	9	1	2	1	0	0	2	1	3	2	2	1	2	0	3	1	2	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169172246C>A	ENST00000393743.3	-	28	4008	c.3717G>T	c.(3715-3717)aaG>aaT	p.K1239N		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1239	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		GACCAAATACCTTCTGCAAAG	0.294													A	169172246	C	A	169172246	3	1	364	1	0	0	0	0	1	0	0	0	4412	680	24	4	1465	4	DDX60	4	169172246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66458	169172246	21982030	4167	27669											
DDX60	55601	broad.mit.edu	37	chr4	169183841	169183841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattatttacctgggccCgaggccaacttttccaaatt	10	14	6	11	1	0	0	0	0	0	0	1	1	1	0	4	2	2	0	4	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169183841C>T	ENST00000393743.3	-	23	3428	c.3137G>A	c.(3136-3138)cGg>cAg	p.R1046Q	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TACCTGGGCCCGAGGCCAACT	0.378													T	169183841	C	T	169183841	3	4	364	1	0	0	0	0	1	0	0	0	4412	652	23	1	2065	1	DDX60	4	169183841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11595	169183841	21970435	4168	27670											
DDX60	55601	broad.mit.edu	37	chr4	169195159	169195159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatacagtagtaggaggCataggttttgcctgaggacg	10	10	13	8	1	0	1	0	1	0	0	1	3	1	3	2	4	2	4	2	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169195159C>A	ENST00000393743.3	-	17	2671	c.2380G>T	c.(2380-2382)Gcc>Tcc	p.A794S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	794	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		TAGTAGGAGGCATAGGTTTTG	0.498													A	169195159	C	A	169195159	3	1	364	1	0	0	0	0	1	0	0	0	4412	710	25	4	2846	4	DDX60	4	169195159	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11318	169195159	21959117	4169	27671											
DDX60L	91351	broad.mit.edu	37	chr4	169353660	169353660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaggagtctttgagcatGccagtgcaaaagttcatcag	13	10	10	8	0	3	1	2	1	1	0	3	2	3	2	1	1	3	3	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169353660G>A	ENST00000511577.1	-	12	1709	c.1462C>T	c.(1462-1464)Cat>Tat	p.H488Y	DDX60L_ENST00000260184.7_Missense_Mutation_p.H488Y|DDX60L_ENST00000505890.1_Missense_Mutation_p.H488Y			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	488							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		CTTTGAGCATGCCAGTGCAAA	0.343													A	169353660	G	A	169353660	3	1	364	1	0	0	0	0	1	0	0	0	4413	1319	46	2	3766	2	DDX60L	4	169353660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158501	169353660	21800616	4170	27672											
DDX60L	91351	broad.mit.edu	37	chr4	169383115	169383115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcacatcaatgttagtaTtgtgttgaaggtggagaatt	11	16	11	3	0	1	2	1	1	0	1	1	3	1	2	0	2	1	4	0	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169383115T>C	ENST00000511577.1	-	5	588	c.341A>G	c.(340-342)aAt>aGt	p.N114S	DDX60L_ENST00000260184.7_Missense_Mutation_p.N114S|DDX60L_ENST00000505890.1_Missense_Mutation_p.N114S			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	114							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AATGTTAGTATTGTGTTGAAG	0.373													C	169383115	T	C	169383115	3	2	364	1	0	0	0	0	1	0	0	0	4413	1493	52	3	4915	3	DDX60L	4	169383115	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29455	169383115	21771161	4171	27673											
PALLD	23022	broad.mit.edu	37	chr4	169432880	169432880	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttctcctgcaagcctCtgtgaacatccttcccataa	10	12	5	14	0	2	1	0	1	2	0	5	1	4	1	4	0	4	2	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169432880C>A	ENST00000261509.6	+	2	436	c.225C>A	c.(223-225)ctC>ctA	p.L75L	PALLD_ENST00000505667.1_Silent_p.L75L|PALLD_ENST00000333488.4_5'UTR|PALLD_ENST00000335742.7_5'UTR	NM_001166108.1|NM_016081.3	NP_001159580.1|NP_057165.3	Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	75					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		CTGCAAGCCTCTGTGAACATC	0.517									Pancreatic Cancer, Familial Clustering of				A	169432880	C	A	169432880	2	1	364	1	0	0	0	0	0	0	0	1	11483	900	32	4		4	PALLD	4	169432880	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49765	169432880	21721396	4172	27674											
PALLD	23022	broad.mit.edu	37	chr4	169630277	169630277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcagcaaccagcactGcccagctggttgtcacctca	10	8	9	14	0	3	0	3	0	0	0	3	1	3	1	3	2	5	4	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169630277G>A	ENST00000335742.7	+	9	1811	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	PALLD_ENST00000512127.1_Missense_Mutation_p.A152T|PALLD_ENST00000505667.1_Missense_Mutation_p.A534T|PALLD_ENST00000261509.6_Missense_Mutation_p.A534T			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	534					cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		AACCAGCACTGCCCAGCTGGT	0.493									Pancreatic Cancer, Familial Clustering of				A	169630277	G	A	169630277	3	1	364	1	0	0	0	0	1	0	0	0	11483	1319	46	2	1630	2	PALLD	4	169630277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197397	169630277	21523999	4173	27675											
PALLD	23022	broad.mit.edu	37	chr4	169819820	169819820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaagatctttgagggaatGccagtaactttcacatgtag	13	12	9	7	0	2	2	1	1	1	1	2	3	2	3	1	1	3	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169819820G>A	ENST00000335742.7	+	14	3259	c.1902G>A	c.(1900-1902)atG>atA	p.M634I	PALLD_ENST00000512127.1_Missense_Mutation_p.M410I|PALLD_ENST00000505667.1_Missense_Mutation_p.M809I|PALLD_ENST00000507735.1_Missense_Mutation_p.M305I|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.M792I			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1016	Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		TTGAGGGAATGCCAGTAACTT	0.428									Pancreatic Cancer, Familial Clustering of				A	169819820	G	A	169819820	3	1	364	1	0	0	0	0	1	0	0	0	11483	1319	46	2	2984	2	PALLD	4	169819820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189543	169819820	21334456	4174	27676											
PALLD	23022	broad.mit.edu	37	chr4	169842815	169842815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagagccagtcacgtcacGtgatgccggcatctacacat	11	8	9	13	3	3	2	2	1	1	1	3	2	3	2	2	1	3	1	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169842815G>A	ENST00000335742.7	+	18	3813	c.2456G>A	c.(2455-2457)cGt>cAt	p.R819H	PALLD_ENST00000512127.1_Missense_Mutation_p.R595H|PALLD_ENST00000505667.1_Missense_Mutation_p.R994H|PALLD_ENST00000507735.1_Missense_Mutation_p.R490H|CBR4_ENST00000509108.1_Intron|PALLD_ENST00000261509.6_Missense_Mutation_p.R977H			Q8WX93	PALLD_HUMAN	palladin, cytoskeletal associated protein	1201	Interaction with ARGBP2, SPIN90, SRC and PFN1.|Interaction with EPS8 (By similarity).|Interaction with VASP (By similarity).|Pro-rich.				cytoskeleton organization	actin filament|focal adhesion|lamellipodium|nucleus|ruffle|sarcomere	actin binding|muscle alpha-actinin binding			breast(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(18)|ovary(3)|prostate(3)|skin(4)	48		Prostate(90;0.00996)|Renal(120;0.0203)|Melanoma(52;0.144)		GBM - Glioblastoma multiforme(119;0.204)		GTCACGTCACGTGATGCCGGC	0.537									Pancreatic Cancer, Familial Clustering of				A	169842815	G	A	169842815	3	1	364	1	0	0	0	0	1	0	0	0	11483	1145	40	1	3554	1	PALLD	4	169842815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22995	169842815	21311461	4175	27677											
CBR4	84869	broad.mit.edu	37	chr4	169923300	169923300	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatccaactaatcctcCtttactggcactgtaaacgg	13	11	6	11	1	0	1	0	1	0	0	3	1	3	1	3	2	3	2	3	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169923300C>A	ENST00000306193.3	-	4	625	c.457G>T	c.(457-459)Gga>Tga	p.G153*	CBR4_ENST00000504480.1_Nonsense_Mutation_p.G153*|CBR4_ENST00000509108.1_5'UTR	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	153					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		ACTAATCCTCCTTTACTGGCA	0.343													A	169923300	C	A	169923300	4	1	364	1	0	0	0	0	0	1	0	0	2736	690	24	4	264	4	CBR4	4	169923300	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80485	169923300	21230976	4176	27678											
CBR4	84869	broad.mit.edu	37	chr4	169928023	169928023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccatatcttcagtttttgTtcttactaaaagaccatccc	11	16	3	11	0	3	1	1	0	2	1	4	1	4	1	3	0	2	2	3	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:169928023T>A	ENST00000306193.3	-	3	451	c.283A>T	c.(283-285)Aca>Tca	p.T95S	CBR4_ENST00000504480.1_Missense_Mutation_p.T95S	NM_032783.4	NP_116172.2	Q8N4T8	CBR4_HUMAN	carbonyl reductase 4	95					fatty acid biosynthetic process|protein homotetramerization	mitochondrial matrix	NADPH binding|NADPH dehydrogenase (quinone) activity|protein binding|quinone binding			kidney(1)|large_intestine(2)|lung(2)	5		Prostate(90;0.00263)|Renal(120;0.0183)|Melanoma(52;0.123)		GBM - Glioblastoma multiforme(119;0.0321)		TCAGTTTTTGTTCTTACTAAA	0.353													A	169928023	T	A	169928023	3	1	364	1	0	0	0	0	1	0	0	0	2736	1725	60	5	442	5	CBR4	4	169928023	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4723	169928023	21226253	4177	27679											
SH3RF1	57630	broad.mit.edu	37	chr4	170028083	170028083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggagcgatgggaactgCggagtccagggaacttgcct	9	7	17	8	2	0	0	0	0	0	0	1	5	1	4	2	5	5	0	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170028083C>T	ENST00000284637.9	-	11	2754	c.2413G>A	c.(2413-2415)Gca>Aca	p.A805T		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	805						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		ATGGGAACTGCGGAGTCCAGG	0.592													T	170028083	C	T	170028083	3	4	364	1	0	0	0	0	1	0	0	0	14352	768	27	1	261	1	SH3RF1	4	170028083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100060	170028083	21126193	4178	27680											
SH3RF1	57630	broad.mit.edu	37	chr4	170038810	170038810	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgggactcccagccacGccatttccctggagcttctg	7	9	9	16	1	1	0	0	0	1	0	3	2	3	2	4	2	2	1	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170038810G>A	ENST00000284637.9	-	9	1982	c.1641C>T	c.(1639-1641)ggC>ggT	p.G547G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	547						Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCAGCCACGCCATTTCCCT	0.582													A	170038810	G	A	170038810	2	1	364	1	0	0	0	0	0	0	0	1	14352	1074	38	1		1	SH3RF1	4	170038810	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10727	170038810	21115466	4179	27681											
CLCN3	1182	broad.mit.edu	37	chr4	170628254	170628254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgttatgagacctcgaagGaatgatcctcccttagctgt	10	11	10	10	2	0	2	0	2	0	1	3	6	2	3	3	1	1	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170628254G>T	ENST00000513761.1	+	11	2545	c.1986G>T	c.(1984-1986)agG>agT	p.R662S	CLCN3_ENST00000360642.3_Missense_Mutation_p.R635S|CLCN3_ENST00000504131.2_Missense_Mutation_p.R645S|CLCN3_ENST00000347613.4_Missense_Mutation_p.R662S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	662	CBS 1.				endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GACCTCGAAGGAATGATCCTC	0.408													T	170628254	G	T	170628254	3	4	364	1	0	0	0	0	1	0	0	0	3495	1165	41	4	2024	4	CLCN3	4	170628254	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	589444	170628254	20526022	4180	27682											
C4orf27	54969	broad.mit.edu	37	chr4	170663239	170663240	+	Frame_Shift_Ins	INS	-	-	T																															ttatccgttatttctctaagINSttttttcgtcaaaaataatc																								rs34118589		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170663239_170663240insT	ENST00000393381.2	-	5	591_592	c.516_517insA	c.(514-519)aaacttfs	p.L173fs		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	173						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		ATTTCTCTAAGTTTTTTCGTCA	0.361													T	170663240	-	T	170663239	7	5	364	1	0	1	1	0	0	0	0	0	2280	1029	36	0	539	0	C4orf27	4	170663239	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	34985	170663239	20491037	4181	27683											
C4orf27	54969	broad.mit.edu	37	chr4	170671750	170671750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatggtctggaactcaggaGgatcatagtaaaacctccag	14	9	10	8	0	3	0	2	0	1	0	4	3	4	3	2	4	2	1	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:170671750G>T	ENST00000393381.2	-	3	410	c.335C>A	c.(334-336)cCt>cAt	p.P112H		NM_017867.2	NP_060337.2	Q9NWY4	CD027_HUMAN	chromosome 4 open reading frame 27	112						nucleus				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)	12		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.018)|LUSC - Lung squamous cell carcinoma(193;0.116)		GAACTCAGGAGGATCATAGTA	0.373													T	170671750	G	T	170671750	3	4	364	1	0	0	0	0	1	0	0	0	2280	1000	35	4	729	4	C4orf27	4	170671750	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8511	170671750	20482526	4182	27684											
GALNTL6	442117	broad.mit.edu	37	chr4	173269674	173269674	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttccctcatctccagCtgtaagcataagatgtatct	9	16	5	11	0	4	1	1	0	3	1	6	1	5	1	2	0	2	4	2	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:173269674C>T	ENST00000506823.1	+	5	1044	c.387C>T	c.(385-387)aaC>aaT	p.N129N	GALNTL6_ENST00000508122.1_Splice_Site_p.N112N|GALNTL6_ENST00000457021.1_3'UTR	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	129						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCATCTCCAGCTGTAAGCATA	0.383													T	173269674	C	T	173269674	5	4	364	1	0	0	0	0	0	0	1	0	6279	811	28	2	401	2	GALNTL6	4	173269674	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2597924	173269674	17884602	4183	27685											
HMGB2	3148	broad.mit.edu	37	chr4	174253297	174253297	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcctcctcctcctcatcTtctggttcgttcttcttctt	1	20	3	17	1	6	0	1	0	5	0	12	0	11	0	5	1	0	2	5	1	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:174253297T>C	ENST00000296503.5	-	5	1437	c.564A>G	c.(562-564)gaA>gaG	p.E188E	HMGB2_ENST00000446922.2_Silent_p.E188E|HMGB2_ENST00000438704.2_Silent_p.E188E			P26583	HMGB2_HUMAN	high mobility group box 2	188	Asp/Glu-rich (acidic).				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		cctcctcatcttctggttcgt	0.458													C	174253297	T	C	174253297	2	2	364	1	0	0	0	0	0	0	0	1	7281	1606	56	3		3	HMGB2	4	174253297	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	983623	174253297	16900979	4184	27686											
GLRA3	8001	broad.mit.edu	37	chr4	175598271	175598271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgaactctgtgtagtcatCgttagcacagtggttatccc	8	13	9	11	1	2	1	1	1	1	0	4	1	3	1	2	1	2	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:175598271C>T	ENST00000274093.3	-	7	1387	c.885G>A	c.(883-885)acG>acA	p.T295T	GLRA3_ENST00000340217.5_Silent_p.T295T	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	295					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGTAGTCATCGTTAGCACAG	0.463													T	175598271	C	T	175598271	2	4	364	1	0	0	0	0	0	0	0	1	6512	871	31	1		1	GLRA3	4	175598271	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1344974	175598271	15556005	4185	27687											
GPM6A	2823	broad.mit.edu	37	chr4	176556060	176556060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggaagatgcatttatGtgtatgcattgagccgctct	11	12	11	7	1	1	2	0	1	1	1	1	4	1	3	1	1	4	4	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:176556060G>A	ENST00000280187.7	-	8	878	c.833C>T	c.(832-834)aCa>aTa	p.T278I	GPM6A_ENST00000515090.1_Missense_Mutation_p.T271I|GPM6A_ENST00000506219.1_5'UTR|GPM6A_ENST00000506894.1_Missense_Mutation_p.T267I|GPM6A_ENST00000393658.2_Missense_Mutation_p.T278I	NM_005277.4	NP_005268.1	P51674	GPM6A_HUMAN	glycoprotein M6A	278						cell surface|integral to membrane				NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33		Breast(14;7.35e-05)|Melanoma(52;0.00909)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;9.21e-19)|Epithelial(43;3.01e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.02e-09)|STAD - Stomach adenocarcinoma(60;0.00083)|GBM - Glioblastoma multiforme(59;0.00168)|LUSC - Lung squamous cell carcinoma(193;0.0388)		ATGCATTTATGTGTATGCATT	0.433													A	176556060	G	A	176556060	3	1	364	1	0	0	0	0	1	0	0	0	6669	1377	48	2	7	2	GPM6A	4	176556060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	957789	176556060	14598216	4186	27688											
WDR17	116966	broad.mit.edu	37	chr4	177052789	177052789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactttaacacagaatcaagCattttctcttcctcctggtc	11	14	4	12	0	2	1	1	0	1	1	6	1	4	1	2	1	3	1	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177052789C>T	ENST00000393643.2	+	7	1250	c.998C>T	c.(997-999)gCa>gTa	p.A333V	WDR17_ENST00000280190.4_Missense_Mutation_p.A357V|WDR17_ENST00000508596.1_Missense_Mutation_p.A333V|WDR17_ENST00000507824.2_Missense_Mutation_p.A340V	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	357										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		CAGAATCAAGCATTTTCTCTT	0.398													T	177052789	C	T	177052789	3	4	364	1	0	0	0	0	1	0	0	0	17379	710	25	2	1096	2	WDR17	4	177052789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	496729	177052789	14101487	4187	27689											
WDR17	116966	broad.mit.edu	37	chr4	177094487	177094487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacctactgagctatattcGtactgaaaaattactcttgc	12	14	6	9	1	1	3	0	3	1	0	2	3	1	3	1	0	5	2	1	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177094487G>A	ENST00000393643.2	+	26	3611	c.3359G>A	c.(3358-3360)cGt>cAt	p.R1120H	WDR17_ENST00000280190.4_Missense_Mutation_p.R1144H|WDR17_ENST00000508596.1_Missense_Mutation_p.R1105H|WDR17_ENST00000507824.2_Missense_Mutation_p.R1119H	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1144										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		AGCTATATTCGTACTGAAAAA	0.333													A	177094487	G	A	177094487	3	1	364	1	0	0	0	0	1	0	0	0	17379	1145	40	1	3533	1	WDR17	4	177094487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41698	177094487	14059789	4188	27690											
SPATA4	132851	broad.mit.edu	37	chr4	177114617	177114617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtaccttctccaactgtGcccagttatccaacttgact	10	12	5	14	1	1	1	0	1	1	0	3	1	2	1	4	0	5	2	4	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177114617G>A	ENST00000280191.2	-	2	443	c.335C>T	c.(334-336)gCa>gTa	p.A112V	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	112					apoptosis|spermatogenesis			p.A112E(1)		NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		CTCCAACTGTGCCCAGTTATC	0.368													A	177114617	G	A	177114617	3	1	364	1	0	0	0	0	1	0	0	0	15106	1319	46	2	602	2	SPATA4	4	177114617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20130	177114617	14039659	4189	27691											
ASB5	140458	broad.mit.edu	37	chr4	177142710	177142710	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgccttgggagcatgcGttgaataacggagtcacgcc	9	8	14	10	3	1	1	1	1	0	0	1	4	1	4	2	3	4	2	2	3	2	3	rs147166381		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:177142710G>A	ENST00000296525.3	-	4	539	c.426C>T	c.(424-426)aaC>aaT	p.N142N	ASB5_ENST00000511879.1_5'UTR|ASB5_ENST00000512254.1_Silent_p.N89N	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	142					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGGAGCATGCGTTGAATAACG	0.478													A	177142710	G	A	177142710	2	1	364	1	0	0	0	0	0	0	0	1	1031	1136	40	1		1	ASB5	4	177142710	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28093	177142710	14011566	4190	27692											
NEIL3	55247	broad.mit.edu	37	chr4	178274725	178274725	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatacagcacccctccaagAagacaacaaacgatataact	19	6	4	12	1	0	2	0	0	0	2	1	3	1	2	3	0	5	1	3	0	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178274725A>G	ENST00000264596.3	+	8	1421	c.1303A>G	c.(1303-1305)Aag>Gag	p.K435E	RP11-376O6.2_ENST00000506895.1_RNA	NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	435					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCCCTCCAAGAAGACAACAAA	0.358								Base excision repair (BER), DNA glycosylases					G	178274725	A	G	178274725	3	3	364	1	0	0	0	0	1	0	0	0	10396	247	9	3	1333	3	NEIL3	4	178274725	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1132015	178274725	12879551	4191	27693											
NEIL3	55247	broad.mit.edu	37	chr4	178283482	178283482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctgcaaccatggcaagCgttccaccatgaaaacagta	14	8	7	12	1	1	1	0	1	1	0	2	1	2	1	3	1	4	4	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:178283482C>T	ENST00000264596.3	+	10	1793	c.1675C>T	c.(1675-1677)Cgt>Tgt	p.R559C		NM_018248.2	NP_060718	Q8TAT5	NEIL3_HUMAN	nei endonuclease VIII-like 3 (E. coli)	559					base-excision repair|nucleotide-excision repair	nucleus	bubble DNA binding|damaged DNA binding|DNA N-glycosylase activity|DNA-(apurinic or apyrimidinic site) lyase activity|double-stranded DNA binding|single-stranded DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Breast(14;6.27e-05)|Melanoma(52;0.00102)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.164)		all cancers(43;1.96e-23)|Epithelial(43;2.52e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.89e-11)|GBM - Glioblastoma multiforme(59;9.49e-05)|Colorectal(24;0.00013)|COAD - Colon adenocarcinoma(29;0.000696)|STAD - Stomach adenocarcinoma(60;0.00308)|LUSC - Lung squamous cell carcinoma(193;0.0398)|READ - Rectum adenocarcinoma(43;0.191)		CCATGGCAAGCGTTCCACCAT	0.373								Base excision repair (BER), DNA glycosylases					T	178283482	C	T	178283482	3	4	364	1	0	0	0	0	1	0	0	0	10396	768	27	1	1713	1	NEIL3	4	178283482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8757	178283482	12870794	4192	27694											
DCTD	1635	broad.mit.edu	37	chr4	183814219	183814219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatattaaacaggagcctCgcagcagttgcctcgtcact	10	9	9	13	2	1	0	1	0	0	0	3	1	1	1	3	1	4	3	3	1	3	3	rs147036938	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:183814219C>T	ENST00000438320.2	-	5	713	c.423G>A	c.(421-423)gcG>gcA	p.A141A	DCTD_ENST00000357067.3_Silent_p.A152A|DCTD_ENST00000510370.1_Silent_p.A141A	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	141					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ACAGGAGCCTCGCAGCAGTTG	0.498													T	183814219	C	T	183814219	2	4	364	1	0	0	0	0	0	0	0	1	4339	871	31	1		1	DCTD	4	183814219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5530737	183814219	7340057	4193	27695											
WWC2	80014	broad.mit.edu	37	chr4	184175070	184175070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacgtacccaagatgaattaGaacgcctagaagctgaaagg	17	6	10	8	2	0	5	0	2	0	3	0	5	0	5	2	1	4	2	2	1	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184175070G>A	ENST00000403733.3	+	9	1313	c.1114G>A	c.(1114-1116)Gaa>Aaa	p.E372K	WWC2_ENST00000378925.3_Missense_Mutation_p.E274K|WWC2_ENST00000513834.1_Missense_Mutation_p.E372K|WWC2_ENST00000448232.2_Missense_Mutation_p.E372K|WWC2_ENST00000504005.1_Missense_Mutation_p.E54K	NM_024949.5	NP_079225.5	Q6AWC2	WWC2_HUMAN	WW and C2 domain containing 2	372										NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	32		all_lung(41;5.28e-14)|Lung NSC(41;1.35e-13)|Colorectal(36;0.00681)|Hepatocellular(41;0.00886)|Renal(120;0.00992)|Prostate(90;0.0237)|all_hematologic(60;0.0592)|Esophageal squamous(56;0.179)|all_neural(102;0.202)		all cancers(43;3.38e-24)|Epithelial(43;1.4e-20)|OV - Ovarian serous cystadenocarcinoma(60;1.09e-09)|GBM - Glioblastoma multiforme(59;3.33e-05)|Colorectal(24;3.58e-05)|STAD - Stomach adenocarcinoma(60;4.21e-05)|COAD - Colon adenocarcinoma(29;0.000171)|LUSC - Lung squamous cell carcinoma(40;0.0145)|READ - Rectum adenocarcinoma(43;0.242)		AGATGAATTAGAACGCCTAGA	0.458													A	184175070	G	A	184175070	3	1	364	1	0	0	0	0	1	0	0	0	17514	943	33	2	1148	2	WWC2	4	184175070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360851	184175070	6979206	4194	27696											
CLDN22	53842	broad.mit.edu	37	chr4	184240733	184240733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttcaggttggtgtttctCgtctccagttcttgatgatg	4	19	11	7	1	4	2	1	2	3	0	6	2	4	2	1	2	0	4	1	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184240733C>T	ENST00000323319.5	-	1	1194	c.639G>A	c.(637-639)acG>acA	p.T213T	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	213					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TGGTGTTTCTCGTCTCCAGTT	0.542													T	184240733	C	T	184240733	2	4	364	1	0	0	0	0	0	0	0	1	3514	871	31	1		1	CLDN22	4	184240733	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65663	184240733	6913543	4195	27697											
CLDN22	53842	broad.mit.edu	37	chr4	184241250	184241250	+	Frame_Shift_Del	DEL	T	T	-																															tggtccagttttccatttcaTttaagtccaggttgaggttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184241250delT	ENST00000323319.5	-	1	677	c.122delA	c.(121-123)aatfs	p.N41fs	WWC2_ENST00000403733.3_3'UTR	NM_001111319.1	NP_001104789.1	Q8N7P3	CLD22_HUMAN	claudin 22	41					calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity			cervix(1)|kidney(1)|lung(3)|prostate(1)|skin(1)	7		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.0172)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)|Esophageal squamous(56;0.176)		all cancers(43;4.1e-26)|Epithelial(43;6.45e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|Colorectal(24;5.87e-06)|GBM - Glioblastoma multiforme(59;6.5e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		TTCCATTTCATTTAAGTCCAG	0.468													-	184241250	T	-	184241250	7	5	364	1	0	1	0	1	0	0	0	0	3514	1493	52	0	544	0	CLDN22	4	184241250	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	517	184241250	6913026	4196	27698											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184366750	184366750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcatcaaagtgacagatgCtccaacctatacaacaagag	17	6	8	10	0	1	3	1	1	0	2	2	3	2	3	2	1	4	2	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184366750C>A	ENST00000504169.1	+	2	542	c.335C>A	c.(334-336)gCt>gAt	p.A112D	CDKN2AIP_ENST00000302350.4_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000510928.1_Missense_Mutation_p.A112D|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	112					negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTGACAGATGCTCCAACCTAT	0.363													A	184366750	C	A	184366750	3	1	364	1	0	0	0	0	1	0	0	0	3192	797	28	4	341	4	CDKN2AIP	4	184366750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125500	184366750	6787526	4197	27699											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367411	184367411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagagtgggaactcagctCggagctctggcatctccagt	9	8	13	11	1	3	1	1	0	2	1	5	4	3	3	1	3	3	3	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184367411C>T	ENST00000504169.1	+	3	781	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	192	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GAACTCAGCTCGGAGCTCTGG	0.512													T	184367411	C	T	184367411	3	4	364	1	0	0	0	0	1	0	0	0	3192	875	31	1	584	1	CDKN2AIP	4	184367411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	184367411	6786865	4198	27700											
STOX2	56977	broad.mit.edu	37	chr4	184930405	184930405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actccagatggctacttcatCgtgaccccacagacttattt	10	12	6	13	1	1	3	1	1	0	2	3	3	2	3	3	1	1	1	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930405C>T	ENST00000308497.4	+	3	1849	c.414C>T	c.(412-414)atC>atT	p.I138I	STOX2_ENST00000438269.1_Silent_p.I138I	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	138					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GCTACTTCATCGTGACCCCAC	0.493													T	184930405	C	T	184930405	2	4	364	1	0	0	0	0	0	0	0	1	15416	874	31	1		1	STOX2	4	184930405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	562994	184930405	6223871	4199	27701											
STOX2	56977	broad.mit.edu	37	chr4	184930527	184930527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaacccgggaccatcaCgccctctgcctcaggctgtg	6	7	10	18	3	3	0	2	0	1	0	4	1	4	1	5	2	2	2	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:184930527C>T	ENST00000308497.4	+	3	1971	c.536C>T	c.(535-537)aCg>aTg	p.T179M	STOX2_ENST00000438269.1_Missense_Mutation_p.T179M	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	179					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		GGGACCATCACGCCCTCTGCC	0.557													T	184930527	C	T	184930527	3	4	364	1	0	0	0	0	1	0	0	0	15416	536	19	1	546	1	STOX2	4	184930527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122	184930527	6223749	4200	27702											
ENPP6	133121	broad.mit.edu	37	chr4	185074733	185074733	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagtacatgtagaccttcCttttggccttggtcagagtg	8	14	11	8	0	1	2	1	0	0	2	2	2	2	2	3	2	1	3	3	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185074733C>A	ENST00000296741.2	-	2	536	c.395G>T	c.(394-396)aGg>aTg	p.R132M		NM_153343.3	NP_699174.1	Q6UWR7	ENPP6_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 6	132					lipid catabolic process	extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	15		all_lung(41;7.99e-12)|Lung NSC(41;1.46e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;4.98e-27)|Epithelial(43;3.15e-24)|OV - Ovarian serous cystadenocarcinoma(60;4.09e-12)|Colorectal(24;3.78e-05)|STAD - Stomach adenocarcinoma(60;4.5e-05)|COAD - Colon adenocarcinoma(29;0.000154)|GBM - Glioblastoma multiforme(59;0.000167)|BRCA - Breast invasive adenocarcinoma(30;0.000378)|LUSC - Lung squamous cell carcinoma(40;0.0151)		GTAGACCTTCCTTTTGGCCTT	0.473													A	185074733	C	A	185074733	3	1	364	1	0	0	0	0	1	0	0	0	5175	681	24	4	955	4	ENPP6	4	185074733	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144206	185074733	6079543	4201	27703											
IRF2	3660	broad.mit.edu	37	chr4	185320164	185320164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcacctctacaacttggCaaatgtctggcggattggtg	8	12	12	9	1	3	0	1	0	2	0	3	1	3	1	1	5	2	1	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185320164C>T	ENST00000393593.3	-	7	806	c.599G>A	c.(598-600)tGc>tAc	p.C200Y		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	200					blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		TACAACTTGGCAAATGTCTGG	0.507													T	185320164	C	T	185320164	3	4	364	1	0	0	0	0	1	0	0	0	7886	710	25	2	462	2	IRF2	4	185320164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245431	185320164	5834112	4202	27704											
ACSL1	2180	broad.mit.edu	37	chr4	185684330	185684330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcactcacctcgccctcGccctcggcagccatgtaatt	6	12	6	17	3	2	0	2	0	0	0	5	0	2	0	4	1	1	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:185684330G>A	ENST00000515030.1	-	16	1837	c.1512C>T	c.(1510-1512)ggC>ggT	p.G504G	ACSL1_ENST00000454703.2_Silent_p.G333G|ACSL1_ENST00000281455.2_Silent_p.G504G|ACSL1_ENST00000507295.1_Silent_p.G470G|ACSL1_ENST00000513317.1_Silent_p.G504G|ACSL1_ENST00000437665.3_Silent_p.G333G|ACSL1_ENST00000504342.1_Silent_p.G504G			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	504					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CCTCGCCCTCGCCCTCGGCAG	0.478													A	185684330	G	A	185684330	2	1	364	1	0	0	0	0	0	0	0	1	177	1074	38	1		1	ACSL1	4	185684330	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364166	185684330	5469946	4203	27705											
SNX25	83891	broad.mit.edu	37	chr4	186283234	186283234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacaaaacagagagcacaGcaaaagctgcttgaaaacat	21	4	8	8	0	0	2	0	1	0	1	0	4	0	2	0	0	7	4	0	0	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186283234G>A	ENST00000504273.1	+	17	2610	c.2316G>A	c.(2314-2316)caG>caA	p.Q772Q	SNX25_ENST00000264694.8_Silent_p.Q772Q|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	772					cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		AGAGAGCACAGCAAAAGCTGC	0.453													A	186283234	G	A	186283234	2	1	364	1	0	0	0	0	0	0	0	1	14990	962	34	2		2	SNX25	4	186283234	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	598904	186283234	4871042	4204	27706											
LRP2BP	55805	broad.mit.edu	37	chr4	186288381	186288381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagttcatctgccaatgCgggattcagacgacaagcct	11	9	11	10	2	3	2	2	1	1	1	3	4	3	3	2	1	3	1	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186288381C>T	ENST00000362004.3	-	8	1814	c.1003G>A	c.(1003-1005)Gca>Aca	p.A335T	LRP2BP_ENST00000505916.1_Missense_Mutation_p.A333T|LRP2BP_ENST00000510776.1_Missense_Mutation_p.A307T|LRP2BP_ENST00000328559.7_Missense_Mutation_p.A333T			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	333						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCTGCCAATGCGGGATTCAGA	0.323													T	186288381	C	T	186288381	3	4	364	1	0	0	0	0	1	0	0	0	9027	768	27	1	50	1	LRP2BP	4	186288381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5147	186288381	4865895	4205	27707											
SORBS2	8470	broad.mit.edu	37	chr4	186536048	186536048	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttggctatagcttctccGatttctccgggctgggctgg	4	15	12	10	2	2	0	0	0	2	0	4	1	2	0	2	4	1	4	2	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536048G>A	ENST00000431808.1	-	18	3383	c.2820C>T	c.(2818-2820)atC>atT	p.I940I	SORBS2_ENST00000393528.3_Silent_p.I506I|SORBS2_ENST00000355634.5_Silent_p.I1040I|SORBS2_ENST00000449407.2_Silent_p.I484I|SORBS2_ENST00000319471.9_Silent_p.I571I|SORBS2_ENST00000284776.7_Silent_p.I940I|SORBS2_ENST00000437304.2_Silent_p.I664I|SORBS2_ENST00000448662.2_Silent_p.I501I|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Silent_p.I844I			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	940	SH3 2.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		TAGCTTCTCCGATTTCTCCGG	0.453													A	186536048	G	A	186536048	2	1	364	1	0	0	0	0	0	0	0	1	15022	1048	37	1		1	SORBS2	4	186536048	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247667	186536048	4618228	4206	27708											
SORBS2	8470	broad.mit.edu	37	chr4	186536109	186536109	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttctcaggaggtgtgAgtttctatgaaggaaatagt	10	14	13	4	0	2	2	1	2	2	0	3	4	2	4	0	3	1	2	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186536109A>T	ENST00000431808.1	-	18	3322	c.2759T>A	c.(2758-2760)cTc>cAc	p.L920H	SORBS2_ENST00000393528.3_Missense_Mutation_p.L486H|SORBS2_ENST00000355634.5_Missense_Mutation_p.L1020H|SORBS2_ENST00000449407.2_Missense_Mutation_p.L464H|SORBS2_ENST00000319471.9_Missense_Mutation_p.L551H|SORBS2_ENST00000284776.7_Missense_Mutation_p.L920H|SORBS2_ENST00000437304.2_Missense_Mutation_p.L644H|SORBS2_ENST00000448662.2_Missense_Mutation_p.L481H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.L824H			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	920	SH3 1.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGGAGGTGTGAGTTTCTATGA	0.493													T	186536109	A	T	186536109	3	4	364	1	0	0	0	0	1	0	0	0	15022	304	11	5	563	5	SORBS2	4	186536109	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	61	186536109	4618167	4207	27709											
SORBS2	8470	broad.mit.edu	37	chr4	186544169	186544169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcccgcagtcattctggTagggtggacaatgaatagca	10	11	11	9	1	3	1	1	1	2	0	4	2	3	2	1	3	1	3	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544169T>C	ENST00000431808.1	-	14	2965	c.2402A>G	c.(2401-2403)tAc>tGc	p.Y801C	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y901C|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y801C|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y705C			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	801						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GTCATTCTGGTAGGGTGGACA	0.612													C	186544169	T	C	186544169	3	2	364	1	0	0	0	0	1	0	0	0	15022	1638	57	3	936	3	SORBS2	4	186544169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8060	186544169	4610107	4208	27710											
SORBS2	8470	broad.mit.edu	37	chr4	186544816	186544816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctcggggctgctcatcGctggtgacttcaatgtgaat	6	13	13	9	2	2	2	2	2	0	0	4	2	2	2	0	3	2	4	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186544816G>A	ENST00000431808.1	-	14	2318	c.1755C>T	c.(1753-1755)agC>agT	p.S585S	SORBS2_ENST00000393528.3_Intron|SORBS2_ENST00000355634.5_Silent_p.S685S|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Silent_p.S585S|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Silent_p.S489S			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	585						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		GCTGCTCATCGCTGGTGACTT	0.592													A	186544816	G	A	186544816	2	1	364	1	0	0	0	0	0	0	0	1	15022	1078	38	1		1	SORBS2	4	186544816	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	647	186544816	4609460	4209	27711											
SORBS2	8470	broad.mit.edu	37	chr4	186573858	186573858	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttaaacatcgtcttgtAccagtccttgggccggtcga	7	13	10	11	3	1	0	0	0	1	0	4	1	2	0	3	2	3	2	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:186573858A>G	ENST00000431808.1	-	8	855	c.292T>C	c.(292-294)Tac>Cac	p.Y98H	SORBS2_ENST00000393528.3_Missense_Mutation_p.Y144H|SORBS2_ENST00000355634.5_Missense_Mutation_p.Y198H|SORBS2_ENST00000449407.2_Missense_Mutation_p.Y184H|SORBS2_ENST00000319471.9_Missense_Mutation_p.Y184H|SORBS2_ENST00000284776.7_Missense_Mutation_p.Y98H|SORBS2_ENST00000437304.2_Missense_Mutation_p.Y277H|SORBS2_ENST00000448662.2_Missense_Mutation_p.Y167H|SORBS2_ENST00000498125.1_5'UTR|SORBS2_ENST00000418609.1_Missense_Mutation_p.Y17H			O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	98	SoHo.					actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		ATCGTCTTGTACCAGTCCTTG	0.473													G	186573858	A	G	186573858	3	3	364	1	0	0	0	0	1	0	0	0	15022	391	14	3	3382	3	SORBS2	4	186573858	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29042	186573858	4580418	4210	27712											
TLR3	7098	broad.mit.edu	37	chr4	187003547	187003547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtccagctgggtcccaGccttacagagaagctatgtt	10	10	10	11	0	0	1	0	0	0	1	2	2	2	1	3	1	4	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187003547G>A	ENST00000296795.3	+	4	811	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TLR3_ENST00000508051.1_3'UTR|TLR3_ENST00000504367.1_5'UTR	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity	p.S236T(1)		breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGTCCCAGCCTTACAGAG	0.428													A	187003547	G	A	187003547	3	1	364	1	0	0	0	0	1	0	0	0	16052	971	34	2	717	2	TLR3	4	187003547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429689	187003547	4150729	4211	27713											
TLR3	7098	broad.mit.edu	37	chr4	187004162	187004162	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtacttgacctgggccttaAtgaaattgggcaagaactca	13	10	10	8	0	1	3	1	2	0	1	1	3	1	3	2	2	2	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004162A>C	ENST00000296795.3	+	4	1426	c.1322A>C	c.(1321-1323)aAt>aCt	p.N441T	TLR3_ENST00000504367.1_Missense_Mutation_p.N164T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		CTGGGCCTTAATGAAATTGGG	0.418													C	187004162	A	C	187004162	3	2	364	1	0	0	0	0	1	0	0	0	16052	101	4	5	1332	5	TLR3	4	187004162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	615	187004162	4150114	4212	27714											
TLR3	7098	broad.mit.edu	37	chr4	187004232	187004232	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcgaaatctatctttcCtacaacaagtacctgcagct	12	14	4	11	1	2	0	0	0	2	0	4	1	3	0	2	0	5	3	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187004232C>A	ENST00000296795.3	+	4	1496	c.1392C>A	c.(1390-1392)tcC>tcA	p.S464S	TLR3_ENST00000504367.1_Silent_p.S187S	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCTATCTTTCCTACAACAAGT	0.468													A	187004232	C	A	187004232	2	1	364	1	0	0	0	0	0	0	0	1	16052	668	24	4		4	TLR3	4	187004232	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70	187004232	4150044	4213	27715											
TLR3	7098	broad.mit.edu	37	chr4	187005136	187005136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataattcatgcctataaaGataaggattgggtctgggaa	15	12	10	4	0	2	1	1	0	1	1	2	3	2	3	1	3	1	0	1	3	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005136G>T	ENST00000296795.3	+	4	2400	c.2296G>T	c.(2296-2298)Gat>Tat	p.D766Y	TLR3_ENST00000504367.1_Missense_Mutation_p.D489Y	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TGCCTATAAAGATAAGGATTG	0.368													T	187005136	G	T	187005136	3	4	364	1	0	0	0	0	1	0	0	0	16052	942	33	4	2306	4	TLR3	4	187005136	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	904	187005136	4149140	4214	27716											
TLR3	7098	broad.mit.edu	37	chr4	187005843	187005843	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagctattgaacaaaatcTggattccattatattggttt	14	15	6	6	0	1	1	0	1	1	0	2	2	2	2	1	2	2	2	1	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187005843T>C	ENST00000296795.3	+	5	2635	c.2531T>C	c.(2530-2532)cTg>cCg	p.L844P	TLR3_ENST00000504367.1_Missense_Mutation_p.L567P	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		TIR.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		GAACAAAATCTGGATTCCATT	0.338													C	187005843	T	C	187005843	3	2	364	1	0	0	0	0	1	0	0	0	16052	1580	55	3	2545	3	TLR3	4	187005843	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	707	187005843	4148433	4215	27717											
CYP4V2	285440	broad.mit.edu	37	chr4	187131752	187131752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gattcttcgtccaagtaatgGcatctggatcaagttgaaga	12	12	10	7	1	3	2	1	1	2	1	5	4	4	3	1	2	0	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187131752G>A	ENST00000378802.4	+	11	1839	c.1535G>A	c.(1534-1536)gGc>gAc	p.G512D	CYP4V2_ENST00000502665.1_3'UTR	NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	512					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		CCAAGTAATGGCATCTGGATC	0.398													A	187131752	G	A	187131752	3	1	364	1	0	0	0	0	1	0	0	0	4225	1203	42	2	1577	2	CYP4V2	4	187131752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125909	187131752	4022524	4216	27718											
KLKB1	3818	broad.mit.edu	37	chr4	187153431	187153431	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaagttcaatcaatgAcatggagaaaaggtaaaagt	18	8	9	6	0	2	2	2	1	0	1	3	3	3	2	1	2	1	3	1	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187153431A>T	ENST00000264690.6	+	3	396	c.209A>T	c.(208-210)gAc>gTc	p.D70V	KLKB1_ENST00000513864.1_Missense_Mutation_p.D70V	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	70	Apple 1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCAATCAATGACATGGAGAAA	0.398													T	187153431	A	T	187153431	3	4	364	1	0	0	0	0	1	0	0	0	8470	275	10	5	215	5	KLKB1	4	187153431	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21679	187153431	4000845	4217	27719											
MTNR1A	4543	broad.mit.edu	37	chr4	187455433	187455433	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggacggccgccagcgTcaggagccatatgaggagca	10	3	17	11	3	1	1	1	1	0	0	1	4	1	4	3	5	3	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187455433T>G	ENST00000307161.5	-	2	664	c.463A>C	c.(463-465)Acg>Ccg	p.T155P	RP11-215A19.2_ENST00000509111.1_Intron	NM_005958.3	NP_005949.1	P48039	MTR1A_HUMAN	melatonin receptor 1A	155					circadian rhythm|G-protein signaling, coupled to cyclic nucleotide second messenger|mating behavior	integral to plasma membrane	melatonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	14		all_cancers(14;6.39e-56)|all_epithelial(14;1.48e-41)|all_lung(41;2.45e-15)|Lung NSC(41;7.26e-15)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00335)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|Renal(120;0.0183)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;7.63e-12)|BRCA - Breast invasive adenocarcinoma(30;6.68e-07)|GBM - Glioblastoma multiforme(59;3.44e-05)|LUSC - Lung squamous cell carcinoma(40;0.000106)|STAD - Stomach adenocarcinoma(60;0.000279)|READ - Rectum adenocarcinoma(43;0.159)	Melatonin(DB01065)|Ramelteon(DB00980)	GCCGCCAGCGTCAGGAGCCAT	0.597													G	187455433	T	G	187455433	3	3	364	1	0	0	0	0	1	0	0	0	10027	1667	58	5	593	5	MTNR1A	4	187455433	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	302002	187455433	3698843	4218	27720											
FAT1	2195	broad.mit.edu	37	chr4	187521066	187521066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctccagcaggtgacGgattgcaaacgcctccattc	9	7	9	16	2	0	1	0	1	0	0	3	2	2	2	5	2	3	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187521066G>A	ENST00000441802.2	-	22	12298	c.12089C>T	c.(12088-12090)cCg>cTg	p.P4030L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	4030	EGF-like 2.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCAGGTGACGGATTGCAAAC	0.512										HNSCC(5;0.00058)			A	187521066	G	A	187521066	3	1	364	1	0	0	0	0	1	0	0	0	5738	1116	39	1	1701	1	FAT1	4	187521066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65633	187521066	3633210	4219	27721											
FAT1	2195	broad.mit.edu	37	chr4	187524130	187524130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggatcagacacacattcGgatccctcagggcacggatc	11	6	11	13	2	2	1	2	0	0	1	5	4	3	4	1	4	0	1	1	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187524130G>A	ENST00000441802.2	-	20	11618	c.11409C>T	c.(11407-11409)tcC>tcT	p.S3803S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3803	EGF-like 1.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACACACATTCGGATCCCTCAG	0.517										HNSCC(5;0.00058)			A	187524130	G	A	187524130	2	1	364	1	0	0	0	0	0	0	0	1	5738	1103	39	1		1	FAT1	4	187524130	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3064	187524130	3630146	4220	27722											
FAT1	2195	broad.mit.edu	37	chr4	187531103	187531103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggcgtgcctccatcagtgGcctctactgttaggtaatac	9	11	10	11	1	2	0	1	0	1	0	3	0	3	0	3	3	3	2	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187531103G>A	ENST00000441802.2	-	15	10129	c.9920C>T	c.(9919-9921)gCc>gTc	p.A3307V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3307	Cadherin 30.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TCCATCAGTGGCCTCTACTGT	0.438										HNSCC(5;0.00058)			A	187531103	G	A	187531103	3	1	364	1	0	0	0	0	1	0	0	0	5738	1203	42	2	3898	2	FAT1	4	187531103	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6973	187531103	3623173	4221	27723											
FAT1	2195	broad.mit.edu	37	chr4	187539523	187539523	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctttctggagtattcccTttgaccaggctgtaaagaac	9	14	9	9	0	1	2	0	1	1	1	2	3	2	3	2	2	2	4	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187539523T>C	ENST00000441802.2	-	10	8426	c.8217A>G	c.(8215-8217)aaA>aaG	p.K2739K		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2739	Cadherin 25.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GAGTATTCCCTTTGACCAGGC	0.448										HNSCC(5;0.00058)			C	187539523	T	C	187539523	2	2	364	1	0	0	0	0	0	0	0	1	5738	1606	56	3		3	FAT1	4	187539523	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8420	187539523	3614753	4222	27724											
FAT1	2195	broad.mit.edu	37	chr4	187541117	187541117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactttcaggccttccgggCtgttagcctgcacgtggacc	6	10	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	2	3	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187541117C>T	ENST00000441802.2	-	10	6832	c.6623G>A	c.(6622-6624)aGc>aAc	p.S2208N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2208	Cadherin 20.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCCTTCCGGGCTGTTAGCCTG	0.478										HNSCC(5;0.00058)			T	187541117	C	T	187541117	3	4	364	1	0	0	0	0	1	0	0	0	5738	797	28	2	7215	2	FAT1	4	187541117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1594	187541117	3613159	4223	27725											
FAT1	2195	broad.mit.edu	37	chr4	187557909	187557909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgatagagcggctcccGtctggcatttctttctcggt	5	13	12	11	4	3	2	0	1	3	1	5	3	4	2	1	3	1	2	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:187557909G>A	ENST00000441802.2	-	5	4011	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1268	Cadherin 11.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGCGGCTCCCGTCTGGCATTT	0.473										HNSCC(5;0.00058)			A	187557909	G	A	187557909	3	1	364	1	0	0	0	0	1	0	0	0	5738	1144	40	1	10056	1	FAT1	4	187557909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16792	187557909	3596367	4224	27726											
ZFP42	132625	broad.mit.edu	37	chr4	188924294	188924294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctttctcaaaaggttttCgaagcaagctcccttgaatg	11	12	8	10	1	1	1	1	1	1	0	4	2	2	1	1	1	3	4	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924294C>T	ENST00000326866.4	+	4	741	c.333C>T	c.(331-333)ttC>ttT	p.F111F	ZFP42_ENST00000509524.1_Silent_p.F111F	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	111					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		AAAAGGTTTTCGAAGCAAGCT	0.408													T	188924294	C	T	188924294	2	4	364	1	0	0	0	0	0	0	0	1	17751	883	31	1		1	ZFP42	4	188924294	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366385	188924294	2229982	4225	27727											
ZFP42	132625	broad.mit.edu	37	chr4	188924381	188924381	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatagttggagagaattcGcttgagtattctgagtacat	13	13	11	4	1	1	4	0	2	1	2	2	6	1	5	0	1	1	4	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:188924381G>A	ENST00000326866.4	+	4	828	c.420G>A	c.(418-420)tcG>tcA	p.S140S	ZFP42_ENST00000509524.1_Silent_p.S140S	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	140					female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		GAGAGAATTCGCTTGAGTATT	0.423													A	188924381	G	A	188924381	2	1	364	1	0	0	0	0	0	0	0	1	17751	1074	38	1		1	ZFP42	4	188924381	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	188924381	2229895	4226	27728											
TRIML2	205860	broad.mit.edu	37	chr4	189013034	189013034	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtctcaatctcatagtTctcaggtcctcagatagtgc	9	13	7	12	0	4	1	4	0	3	1	8	1	5	1	2	1	1	1	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189013034T>G	ENST00000512729.1	-	7	1031	c.657A>C	c.(655-657)agA>agC	p.R219S	TRIML2_ENST00000326754.3_Missense_Mutation_p.R244S	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	219	B30.2/SPRY.						ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		ATCTCATAGTTCTCAGGTCCT	0.512													G	189013034	T	G	189013034	3	3	364	1	0	0	0	0	1	0	0	0	16652	1780	62	5	510	5	TRIML2	4	189013034	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	88653	189013034	2141242	4227	27729											
TRIML1	339976	broad.mit.edu	37	chr4	189063519	189063519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagaacaggaagagaaagaGaacatgaggaagctgaggaa	20	3	14	4	0	0	5	0	2	0	3	0	10	0	8	0	3	3	1	0	3	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189063519G>T	ENST00000332517.3	+	3	758	c.618G>T	c.(616-618)gaG>gaT	p.E206D	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	206					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		AAGAGAAAGAGAACATGAGGA	0.448													T	189063519	G	T	189063519	3	4	364	1	0	0	0	0	1	0	0	0	16651	933	33	4	628	4	TRIML1	4	189063519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50485	189063519	2090757	4228	27730											
TRIML1	339976	broad.mit.edu	37	chr4	189068102	189068102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaagatttgaccagtctgCgactgtgctgggtactcaga	10	10	13	8	1	2	3	1	1	1	2	2	5	2	4	1	2	3	2	1	2	2	2	rs147254109		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr4:189068102C>T	ENST00000332517.3	+	6	1123	c.983C>T	c.(982-984)gCg>gTg	p.A328V	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	328	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding	p.A328V(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GACCAGTCTGCGACTGTGCTG	0.537													T	189068102	C	T	189068102	3	4	364	1	0	0	0	0	1	0	0	0	16651	768	27	1	1005	1	TRIML1	4	189068102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4583	189068102	2086174	4229	27731											
PLEKHG4B	153478	broad.mit.edu	37	chr5	163454	163454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaagtttcgagataccTcagcccgacagtggccccag	11	6	10	14	3	1	1	1	0	0	1	2	3	1	1	4	1	2	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:163454T>C	ENST00000283426.6	+	11	2249	c.2199T>C	c.(2197-2199)ccT>ccC	p.P733P		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	733					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		TCGAGATACCTCAGCCCGACA	0.567													C	163454	T	C	163454	2	2	364	1	0	0	0	0	0	0	0	1	12149	1538	54	3		3	PLEKHG4B	5	163454	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08		163454	180751806	4230	27732											
PLEKHG4B	153478	broad.mit.edu	37	chr5	169510	169510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagagagggagtacattCggtgcttaggatacgtcatt	11	10	12	8	2	1	1	1	0	0	1	2	4	1	3	1	3	3	2	1	3	3	5	rs149174138	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169510C>T	ENST00000283426.6	+	12	2514	c.2464C>T	c.(2464-2466)Cgg>Tgg	p.R822W		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	822	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R822R(1)|p.R13R(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGAGTACATTCGGTGCTTAGG	0.552													T	169510	C	T	169510	3	4	364	1	0	0	0	0	1	0	0	0	12149	875	31	1	2510	1	PLEKHG4B	5	169510	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6056	169510	180745750	4231	27733											
LRRC14B	389257	broad.mit.edu	37	chr5	195094	195094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcccctgccaccggctgCgccagctcaagttcctcggg	5	7	12	17	3	1	1	1	1	0	0	3	1	2	1	6	2	4	3	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:195094C>T	ENST00000328278.3	+	2	1199	c.1171C>T	c.(1171-1173)Cgc>Tgc	p.R391C		NM_001080478.1	NP_001073947.1	A6NHZ5	LR14B_HUMAN	leucine rich repeat containing 14B	391										endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|upper_aerodigestive_tract(2)	10						CCACCGGCTGCGCCAGCTCAA	0.672													T	195094	C	T	195094	3	4	364	1	0	0	0	0	1	0	0	0	9039	768	27	1	1177	1	LRRC14B	5	195094	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25584	195094	180720166	4232	27734											
AHRR	57491	broad.mit.edu	37	chr5	432971	432971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcagggaacagactgacGctggccgatgggcacaggtt	9	7	15	10	2	1	2	1	1	0	1	1	4	1	3	1	4	2	4	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:432971G>A	ENST00000316418.5	+	11	1131	c.1087G>A	c.(1087-1089)Gct>Act	p.A363T	AHRR_ENST00000512529.1_Missense_Mutation_p.A191T|AHRR_ENST00000506456.1_Missense_Mutation_p.A201T|AHRR_ENST00000505113.1_Missense_Mutation_p.A345T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			ACAGACTGACGCTGGCCGATG	0.657													A	432971	G	A	432971	3	1	364	1	0	0	0	0	1	0	0	0	417	1087	38	1	1129	1	AHRR	5	432971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	237877	432971	180482289	4233	27735											
AHRR	57491	broad.mit.edu	37	chr5	434145	434145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctccctgcgccccatgccCcgcggctcctgcctgccctg	1	7	9	24	3	0	0	0	0	0	0	2	0	2	0	9	1	4	1	9	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:434145C>T	ENST00000316418.5	+	12	1400	c.1356C>T	c.(1354-1356)ccC>ccT	p.P452P	AHRR_ENST00000512529.1_Silent_p.P280P|AHRR_ENST00000506456.1_Silent_p.P290P|AHRR_ENST00000505113.1_Silent_p.P434P	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	434					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GCCCCATGCCCCGCGGCTCCT	0.692													T	434145	C	T	434145	2	4	364	1	0	0	0	0	0	0	0	1	417	610	22	2		2	AHRR	5	434145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1174	434145	180481115	4234	27736											
C5orf55	116349	broad.mit.edu	37	chr5	442595	442595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcaggaccggccctctgCagcgcggcccagtgacccac	7	4	12	18	3	2	1	1	1	1	0	2	3	2	2	4	3	2	1	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:442595C>T	ENST00000408966.2	-	1	663	c.343G>A	c.(343-345)Gca>Aca	p.A115T		NM_138464.2	NP_612473.1	Q8N2X6	CE055_HUMAN	chromosome 5 open reading frame 55	115						extracellular region				large_intestine(1)|lung(2)	3						CGGCCCTCTGCAGCGCGGCCC	0.642													T	442595	C	T	442595	3	4	364	1	0	0	0	0	1	0	0	0	2333	710	25	2	20	2	C5orf55	5	442595	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8450	442595	180472665	4235	27737											
EXOC3	11336	broad.mit.edu	37	chr5	457018	457018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatagtactgagatgatgaGgaacgtggagctggccccgg	10	7	15	9	2	0	3	0	3	0	1	0	6	0	5	3	4	3	2	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:457018G>A	ENST00000512944.1	+	5	1250	c.1061G>A	c.(1060-1062)aGg>aAg	p.R354K	EXOC3_ENST00000315013.5_Missense_Mutation_p.R354K	NM_007277.4	NP_009208.2	O60645	EXOC3_HUMAN	exocyst complex component 3	365					exocytosis|protein transport					breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(13)|ovary(1)|urinary_tract(1)	23		Ovarian(839;0.0563)	Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GAGATGATGAGGAACGTGGAG	0.547													A	457018	G	A	457018	3	1	364	1	0	0	0	0	1	0	0	0	5344	1000	35	2	1075	2	EXOC3	5	457018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14423	457018	180458242	4236	27738											
SLC9A3	6550	broad.mit.edu	37	chr5	476767	476767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactgcatgtccaggcagAcagcgctgacattttctctc	9	10	10	12	1	1	3	0	1	1	2	4	4	2	3	1	1	2	3	1	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:476767A>G	ENST00000264938.3	-	12	1790	c.1781T>C	c.(1780-1782)gTc>gCc	p.V594A	SLC9A3_ENST00000514375.1_Missense_Mutation_p.V585A|CTD-2228K2.7_ENST00000607286.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	594	Interaction with PDZD3 (By similarity).					cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GTCCAGGCAGACAGCGCTGAC	0.657													G	476767	A	G	476767	3	3	364	1	0	0	0	0	1	0	0	0	14807	275	10	3	747	3	SLC9A3	5	476767	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19749	476767	180438493	4237	27739											
SLC9A3	6550	broad.mit.edu	37	chr5	479971	479971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccacgtagctgatggCatccttcaggttcagctcgt	7	11	10	13	2	3	1	3	1	0	0	5	1	4	1	2	2	3	5	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:479971C>T	ENST00000264938.3	-	10	1636	c.1627G>A	c.(1627-1629)Gcc>Acc	p.A543T	CTD-2228K2.7_ENST00000607005.1_RNA|SLC9A3_ENST00000514375.1_Missense_Mutation_p.A534T|CTD-2228K2.7_ENST00000607286.1_RNA|CTD-2228K2.7_ENST00000606288.1_RNA	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	543						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			TAGCTGATGGCATCCTTCAGG	0.617													T	479971	C	T	479971	3	4	364	1	0	0	0	0	1	0	0	0	14807	710	25	2	909	2	SLC9A3	5	479971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3204	479971	180435289	4238	27740											
TPPP	11076	broad.mit.edu	37	chr5	678081	678081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaccctccgattccagcGacagcctcttggctgcccgg	6	7	10	18	3	1	0	0	0	1	0	3	2	3	0	5	2	4	2	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:678081G>A	ENST00000360578.5	-	2	216	c.95C>T	c.(94-96)tCg>tTg	p.S32L		NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	32	Mediates interaction with LIMK1.				microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		CGATTCCAGCGACAGCCTCTT	0.687													A	678081	G	A	678081	3	1	364	1	0	0	0	0	1	0	0	0	16514	1059	37	1	576	1	TPPP	5	678081	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198110	678081	180237179	4239	27741											
TRIP13	9319	broad.mit.edu	37	chr5	901528	901528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctcatcacctggaacCgggtggtgctgctccacggt	7	8	12	14	2	2	0	2	0	0	0	3	1	3	1	4	4	4	3	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:901528C>T	ENST00000166345.3	+	5	873	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W		NM_004237.3	NP_004228.1	Q15645	PCH2_HUMAN	thyroid hormone receptor interactor 13	173					double-strand break repair|reciprocal meiotic recombination|synaptonemal complex assembly|transcription from RNA polymerase II promoter		ATP binding|identical protein binding|nucleoside-triphosphatase activity|transcription cofactor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	18			Epithelial(17;0.00147)|OV - Ovarian serous cystadenocarcinoma(19;0.00271)|all cancers(22;0.00622)|Lung(60;0.165)			CACCTGGAACCGGGTGGTGCT	0.433													T	901528	C	T	901528	3	4	364	1	0	0	0	0	1	0	0	0	16658	643	23	1	535	1	TRIP13	5	901528	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	223447	901528	180013732	4240	27742											
SLC12A7	10723	broad.mit.edu	37	chr5	1053494	1053494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccctgccggtttttgggagGacctggcatgttgagcagga	6	11	15	9	1	0	1	0	1	0	0	1	4	1	4	3	5	2	4	3	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1053494G>A	ENST00000264930.5	-	23	3173	c.3130C>T	c.(3130-3132)Cct>Tct	p.P1044S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	1044					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)	TTTTTGGGAGGACCTGGCATG	0.602													A	1053494	G	A	1053494	3	1	364	1	0	0	0	0	1	0	0	0	14482	1174	41	2	129	2	SLC12A7	5	1053494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151966	1053494	179861766	4241	27743											
SLC12A7	10723	broad.mit.edu	37	chr5	1064315	1064315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcggaaacgagtcgacGttcttggccaccagcagagc	9	9	12	11	4	1	1	0	0	1	1	2	4	1	2	2	2	4	2	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1064315G>A	ENST00000264930.5	-	19	2533	c.2490C>T	c.(2488-2490)aaC>aaT	p.N830N		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	830					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)	ACGAGTCGACGTTCTTGGCCA	0.682													A	1064315	G	A	1064315	2	1	364	1	0	0	0	0	0	0	0	1	14482	1136	40	1		1	SLC12A7	5	1064315	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10821	1064315	179850945	4242	27744											
SLC12A7	10723	broad.mit.edu	37	chr5	1065545	1065545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctggacgagaccaccaGctggcagaagcccttggtct	9	6	13	13	1	1	2	0	0	1	2	1	4	1	3	3	4	2	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1065545G>A	ENST00000264930.5	-	18	2333	c.2290C>T	c.(2290-2292)Ctg>Ttg	p.L764L		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	764					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)	GAGACCACCAGCTGGCAGAAG	0.632													A	1065545	G	A	1065545	2	1	364	1	0	0	0	0	0	0	0	1	14482	962	34	2		2	SLC12A7	5	1065545	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1230	1065545	179849715	4243	27745											
SLC12A7	10723	broad.mit.edu	37	chr5	1083924	1083924	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacgttgttctggatgaaGtactcgtcacaggcggcgct	7	11	14	9	4	2	2	1	2	1	0	3	3	2	3	0	3	1	4	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1083924G>T	ENST00000264930.5	-	8	1108	c.1065C>A	c.(1063-1065)taC>taA	p.Y355*		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	355					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)	TCTGGATGAAGTACTCGTCAC	0.652													T	1083924	G	T	1083924	4	4	364	1	0	0	0	0	0	1	0	0	14482	1024	36	4	2254	4	SLC12A7	5	1083924	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18379	1083924	179831336	4244	27746											
SLC12A7	10723	broad.mit.edu	37	chr5	1093734	1093734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagttggccagcttgttgaGcagcgaggacaccatggggt	8	9	16	8	1	0	1	0	1	0	0	0	3	0	2	2	4	3	5	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1093734G>A	ENST00000264930.5	-	3	299	c.256C>T	c.(256-258)Ctc>Ttc	p.L86F		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	86					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)	AGCTTGTTGAGCAGCGAGGAC	0.687													A	1093734	G	A	1093734	3	1	364	1	0	0	0	0	1	0	0	0	14482	971	34	2	3083	2	SLC12A7	5	1093734	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9810	1093734	179821526	4245	27747											
SLC6A18	348932	broad.mit.edu	37	chr5	1235772	1235772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggcattgagactacaGggaaggtgagagctggcagg	11	6	18	6	0	1	2	1	2	0	2	1	5	1	3	0	6	2	3	0	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1235772G>T	ENST00000324642.3	+	4	739	c.616G>T	c.(616-618)Ggg>Tgg	p.G206W	SLC6A18_ENST00000296821.4_Missense_Mutation_p.G206W	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	206					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TGAGACTACAGGGAAGGTGAG	0.572													T	1235772	G	T	1235772	3	4	364	1	0	0	0	0	1	0	0	0	14775	1000	35	4	630	4	SLC6A18	5	1235772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142038	1235772	179679488	4246	27748											
SLC6A3	6531	broad.mit.edu	37	chr5	1403055	1403055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctcgaaaggacccaggCaggctgcagaacttgtaggc	11	6	12	12	1	1	1	0	0	1	1	2	3	1	2	2	4	2	4	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1403055C>T	ENST00000270349.9	-	13	1876	c.1749G>A	c.(1747-1749)ctG>ctA	p.L583L	SLC6A3_ENST00000453492.2_Silent_p.L583L	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	583	Interaction with TGFB1I1.				cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGACCCAGGCAGGCTGCAGA	0.632													T	1403055	C	T	1403055	2	4	364	1	0	0	0	0	0	0	0	1	14779	697	25	2		2	SLC6A3	5	1403055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167283	1403055	179512205	4247	27749											
SLC6A3	6531	broad.mit.edu	37	chr5	1420736	1420736	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtatgctctgatgccgTctatggctccagggagggtg	6	11	15	9	1	3	1	1	1	2	0	4	2	4	2	2	4	2	3	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1420736T>G	ENST00000270349.9	-	6	1002	c.875A>C	c.(874-876)gAc>gCc	p.D292A	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D292A	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	292					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCTGATGCCGTCTATGGCTCC	0.597													G	1420736	T	G	1420736	3	3	364	1	0	0	0	0	1	0	0	0	14779	1667	58	5	1027	5	SLC6A3	5	1420736	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17681	1420736	179494524	4248	27750											
SLC6A3	6531	broad.mit.edu	37	chr5	1441573	1441573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtggcatcccagcaatgaCcatgaagagcaggtagggga	14	5	14	8	0	0	3	0	2	0	1	1	4	1	4	2	4	2	4	2	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1441573C>T	ENST00000270349.9	-	3	446	c.319G>A	c.(319-321)Gtc>Atc	p.V107I	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V107I	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	107					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CCAGCAATGACCATGAAGAGC	0.587													T	1441573	C	T	1441573	3	4	364	1	0	0	0	0	1	0	0	0	14779	507	18	2	1595	2	SLC6A3	5	1441573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20837	1441573	179473687	4249	27751											
LPCAT1	79888	broad.mit.edu	37	chr5	1494887	1494887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcatggtcacagggatggCgtcgaagtaggacgagtgag	10	7	17	7	4	2	1	2	1	0	0	3	5	2	3	0	4	0	1	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1494887C>T	ENST00000283415.3	-	3	553	c.421G>A	c.(421-423)Gcc>Acc	p.A141T		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	141					phospholipid biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		ACAGGGATGGCGTCGAAGTAG	0.652													T	1494887	C	T	1494887	3	4	364	1	0	0	0	0	1	0	0	0	8980	768	27	1	1231	1	LPCAT1	5	1494887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53314	1494887	179420373	4250	27752											
MRPL36	64979	broad.mit.edu	37	chr5	1798862	1798862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgtttttgaaccccagcGcaggcagcagatggggcagg	8	9	14	10	1	1	2	0	1	1	1	1	2	1	2	2	4	3	5	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:1798862G>A	ENST00000508987.1	-	2	324	c.188C>T	c.(187-189)gCg>gTg	p.A63V	MRPL36_ENST00000505059.2_Missense_Mutation_p.A63V|MRPL36_ENST00000505818.1_Missense_Mutation_p.A63V|MRPL36_ENST00000382647.7_Missense_Mutation_p.A63V			Q9P0J6	RM36_HUMAN	mitochondrial ribosomal protein L36	63					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(2)	3				GBM - Glioblastoma multiforme(108;0.241)		GAACCCCAGCGCAGGCAGCAG	0.592													A	1798862	G	A	1798862	3	1	364	1	0	0	0	0	1	0	0	0	9875	1087	38	1	127	1	MRPL36	5	1798862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	303975	1798862	179116398	4251	27753											
IRX1	79192	broad.mit.edu	37	chr5	3596444	3596444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacgcgggcgcgcccaaCtacagcgccttcctgcccta	6	6	10	19	6	0	0	0	0	0	0	1	0	1	0	5	1	5	1	5	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:3596444C>A	ENST00000302006.3	+	1	277	c.225C>A	c.(223-225)aaC>aaA	p.N75K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	75						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						GCGCGCCCAACTACAGCGCCT	0.746													A	3596444	C	A	3596444	3	1	364	1	0	0	0	0	1	0	0	0	7901	564	20	4	227	4	IRX1	5	3596444	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1797582	3596444	177318816	4252	27754											
ADAMTS16	170690	broad.mit.edu	37	chr5	5190119	5190119	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccacgcagaccacacCttaagtagcttctgccagtg	11	8	8	14	1	2	1	1	0	1	1	2	1	2	1	4	0	2	3	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5190119C>A	ENST00000274181.7	+	7	1221	c.1083C>A	c.(1081-1083)acC>acA	p.T361T	ADAMTS16_ENST00000511368.1_Silent_p.T361T	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	361	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CAGACCACACCTTAAGTAGCT	0.483													A	5190119	C	A	5190119	2	1	364	1	0	0	0	0	0	0	0	1	261	668	24	4		4	ADAMTS16	5	5190119	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1593675	5190119	175725141	4253	27755											
ADAMTS16	170690	broad.mit.edu	37	chr5	5235133	5235133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatacacattccaggccatcGcatggagggaagttctgtga	12	9	11	9	1	1	1	0	1	1	0	3	3	2	3	2	3	1	2	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5235133G>A	ENST00000274181.7	+	13	1995	c.1857G>A	c.(1855-1857)tcG>tcA	p.S619S		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	619	TSP type-1 1.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						CCAGGCCATCGCATGGAGGGA	0.433													A	5235133	G	A	5235133	2	1	364	1	0	0	0	0	0	0	0	1	261	1074	38	1		1	ADAMTS16	5	5235133	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45014	5235133	175680127	4254	27756											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237190	5237190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcggaggatagccgtaatgTttgtatagatgggatatgtg	10	13	14	4	2	0	1	0	0	0	1	1	4	0	4	1	3	1	3	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5237190T>C	ENST00000274181.7	+	14	2270	c.2132T>C	c.(2131-2133)gTt>gCt	p.V711A	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	711	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						AGCCGTAATGTTTGTATAGAT	0.393													C	5237190	T	C	5237190	3	2	364	1	0	0	0	0	1	0	0	0	261	1725	60	3	2186	3	ADAMTS16	5	5237190	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2057	5237190	175678070	4255	27757											
KIAA0947	23379	broad.mit.edu	37	chr5	5462688	5462688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttgcagaaaacatggaGagacacaggatacctcccaa	16	7	8	10	0	0	2	0	0	0	2	1	5	1	4	2	2	3	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5462688G>A	ENST00000296564.7	+	13	3463	c.3241G>A	c.(3241-3243)Gag>Aag	p.E1081K		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1081										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAAACATGGAGAGACACAGGA	0.473													A	5462688	G	A	5462688	3	1	364	1	0	0	0	0	1	0	0	0	8260	943	33	2	3291	2	KIAA0947	5	5462688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	225498	5462688	175452572	4256	27758											
KIAA0947	23379	broad.mit.edu	37	chr5	5464275	5464275	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattttagcaaatgctgatAcatccactcctacagattgt	12	13	5	11	0	0	2	0	1	0	1	2	2	2	2	3	0	4	2	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464275A>G	ENST00000296564.7	+	13	5050	c.4828A>G	c.(4828-4830)Aca>Gca	p.T1610A		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1610										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						AAATGCTGATACATCCACTCC	0.448													G	5464275	A	G	5464275	3	3	364	1	0	0	0	0	1	0	0	0	8260	391	14	3	4878	3	KIAA0947	5	5464275	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1587	5464275	175450985	4257	27759											
KIAA0947	23379	broad.mit.edu	37	chr5	5464590	5464590	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtagtgccgtctcctctgCagttctgtgcggccacgccg	3	10	14	14	4	3	0	0	0	3	0	4	0	3	0	4	2	3	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:5464590C>T	ENST00000296564.7	+	13	5365	c.5143C>T	c.(5143-5145)Cag>Tag	p.Q1715*		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1715	Pro-rich.									breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GTCTCCTCTGCAGTTCTGTGC	0.627													T	5464590	C	T	5464590	4	4	364	1	0	0	0	0	0	1	0	0	8260	711	25	2	5193	2	KIAA0947	5	5464590	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315	5464590	175450670	4258	27760											
NSUN2	54888	broad.mit.edu	37	chr5	6632715	6632715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcactgcctccctaccttTtgtaaccagtaattcttaaa	11	13	5	12	0	1	0	0	0	1	0	2	0	2	0	4	1	3	3	4	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6632715T>C	ENST00000264670.6	-	2	562	c.251A>G	c.(250-252)aAa>aGa	p.K84R	NSUN2_ENST00000506139.1_Missense_Mutation_p.K84R|NSUN2_ENST00000539938.1_5'UTR	NM_017755.5	NP_060225.4	Q08J23	NSUN2_HUMAN	NOP2/Sun RNA methyltransferase family, member 2	84						cytoplasm|nucleolus	tRNA (cytosine-5-)-methyltransferase activity|tRNA binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	41						TCCCTACCTTTTGTAACCAGT	0.547													C	6632715	T	C	6632715	3	2	364	1	0	0	0	0	1	0	0	0	10754	1841	64	3	2124	3	NSUN2	5	6632715	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1168125	6632715	174282545	4259	27761											
PAPD7	11044	broad.mit.edu	37	chr5	6746508	6746508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccagcgggtacagaccgtCgatgctgtgcattgaggacc	9	7	14	11	3	0	2	0	1	0	1	1	5	0	3	3	2	4	3	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:6746508C>T	ENST00000230859.6	+	7	806	c.677C>T	c.(676-678)tCg>tTg	p.S226L		NM_001171805.1|NM_001171806.1|NM_006999.4	NP_001165276.1|NP_001165277.1|NP_008930.1	Q5XG87	PAPD7_HUMAN	PAP associated domain containing 7	226	PAP-associated.				cell division|DNA replication|double-strand break repair|mitotic chromosome condensation|response to drug|sister chromatid cohesion	nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|SMC protein binding			cervix(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						TACAGACCGTCGATGCTGTGC	0.542													T	6746508	C	T	6746508	3	4	364	1	0	0	0	0	1	0	0	0	11502	893	31	1	699	1	PAPD7	5	6746508	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113793	6746508	174168752	4260	27762											
ADCY2	108	broad.mit.edu	37	chr5	7706895	7706895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagttgatatcaacatgcGcgtgggcgtgcattctggga	8	11	15	7	3	2	1	1	1	1	0	2	3	2	3	0	3	3	2	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7706895G>A	ENST00000338316.4	+	8	1237	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	ADCY2_ENST00000537121.1_Missense_Mutation_p.R203H	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	383					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ATCAACATGCGCGTGGGCGTG	0.473													A	7706895	G	A	7706895	3	1	364	1	0	0	0	0	1	0	0	0	294	1087	38	1	1178	1	ADCY2	5	7706895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960387	7706895	173208365	4261	27763											
ADCY2	108	broad.mit.edu	37	chr5	7789844	7789844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggagaacctgaaccgCgtgctgctggagaacgtgct	10	7	13	11	3	0	3	0	1	0	2	0	5	0	3	3	2	6	3	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7789844C>T	ENST00000338316.4	+	20	2648	c.2559C>T	c.(2557-2559)cgC>cgT	p.R853R	ADCY2_ENST00000537121.1_Silent_p.R673R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	853					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACCTGAACCGCGTGCTGCTGG	0.532													T	7789844	C	T	7789844	2	4	364	1	0	0	0	0	0	0	0	1	294	755	27	1		1	ADCY2	5	7789844	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82949	7789844	173125416	4262	27764											
ADCY2	108	broad.mit.edu	37	chr5	7816988	7816988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgttctcaggagcccgagCggcagtacatgcacattggc	8	10	12	11	2	1	0	1	0	1	0	2	2	1	1	1	3	4	4	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7816988C>T	ENST00000338316.4	+	23	2982	c.2893C>T	c.(2893-2895)Cgg>Tgg	p.R965W	ADCY2_ENST00000537121.1_Missense_Mutation_p.R785W	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	965					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						GGAGCCCGAGCGGCAGTACAT	0.507											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7816988	C	T	7816988	3	4	364	1	0	0	0	0	1	0	0	0	294	759	27	1	2983	1	ADCY2	5	7816988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27144	7816988	173098272	4263	27765											
ADCY2	108	broad.mit.edu	37	chr5	7817086	7817086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcaacgacttcaaattGcgagtgggtacgttctgcaa	10	12	9	10	3	3	0	2	0	1	0	4	2	4	0	1	1	4	3	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7817086G>A	ENST00000338316.4	+	23	3080	c.2991G>A	c.(2989-2991)ttG>ttA	p.L997L	ADCY2_ENST00000537121.1_Silent_p.L817L	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	997					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACTTCAAATTGCGAGTGGGTA	0.478											OREG0016499	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7817086	G	A	7817086	2	1	364	1	0	0	0	0	0	0	0	1	294	1310	46	2		2	ADCY2	5	7817086	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98	7817086	173098174	4264	27766											
MTRR	4552	broad.mit.edu	37	chr5	7878150	7878150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagaggagataagtggCgcactcccggtggcatcacc	11	5	14	11	2	1	2	1	0	0	2	2	4	2	3	2	5	0	2	2	5	2	1	rs139333376	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:7878150C>T	ENST00000264668.2	+	5	606	c.576C>T	c.(574-576)ggC>ggT	p.G192G	MTRR_ENST00000341013.6_3'UTR|MTRR_ENST00000502509.1_3'UTR|MTRR_ENST00000440940.2_Silent_p.G165G	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	192					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding	p.G192G(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGATAAGTGGCGCACTCCCGG	0.507													T	7878150	C	T	7878150	2	4	364	1	0	0	0	0	0	0	0	1	10037	755	27	1		1	MTRR	5	7878150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61064	7878150	173037110	4265	27767											
SEMA5A	9037	broad.mit.edu	37	chr5	9052040	9052040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccgtggtgttcccggaGcactggctgcccatggggaa	5	9	14	13	2	1	0	0	0	1	0	3	2	2	2	3	5	2	3	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9052040G>A	ENST00000382496.5	-	20	3455	c.2790C>T	c.(2788-2790)tgC>tgT	p.C930C		NM_003966.2	NP_003957.2	Q13591	SEM5A_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5A	930	TSP type-1 7.				cell adhesion|cell-cell signaling	integral to membrane|plasma membrane				biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(13)|lung(40)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	81						TGTTCCCGGAGCACTGGCTGC	0.552													A	9052040	G	A	9052040	2	1	364	1	0	0	0	0	0	0	0	1	14130	963	34	2		2	SEMA5A	5	9052040	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1173890	9052040	171863220	4266	27768											
TAS2R1	50834	broad.mit.edu	37	chr5	9629871	9629871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgtggcaagccaaagttCcaattcatttataaataaga	16	11	6	8	0	1	1	1	0	0	1	2	1	2	1	3	1	1	2	3	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:9629871C>T	ENST00000382492.2	-	1	592	c.274G>A	c.(274-276)Gaa>Aaa	p.E92K	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	92					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						AGCCAAAGTTCCAATTCATTT	0.413													T	9629871	C	T	9629871	3	4	364	1	0	0	0	0	1	0	0	0	15662	864	30	2	629	2	TAS2R1	5	9629871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577831	9629871	171285389	4267	27769											
FAM173B	134145	broad.mit.edu	37	chr5	10227731	10227731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatcatcctcaagttcaCgttcaagtttcttctccaac	9	14	5	13	1	6	0	4	0	2	0	8	0	7	0	2	0	2	4	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10227731C>T	ENST00000280330.8	-	6	638	c.32G>A	c.(31-33)cGt>cAt	p.R11H	FAM173B_ENST00000510047.1_Missense_Mutation_p.R158H|FAM173B_ENST00000511437.1_Missense_Mutation_p.R175H|FAM173B_ENST00000510052.1_5'UTR			Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	175						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CTCAAGTTCACGTTCAAGTTT	0.473													T	10227731	C	T	10227731	3	4	364	1	0	0	0	0	1	0	0	0	5539	536	19	1	181	1	FAM173B	5	10227731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	597860	10227731	170687529	4268	27770											
CCT5	22948	broad.mit.edu	37	chr5	10254886	10254886	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgatcatcagattgccaaGctgatggtggaactgtccaa	11	11	11	8	0	2	3	2	2	0	1	3	4	3	4	2	2	3	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10254886G>A	ENST00000280326.4	+	3	687	c.267G>A	c.(265-267)aaG>aaA	p.K89K	CCT5_ENST00000506600.1_Intron|CCT5_ENST00000503026.1_Silent_p.K68K|CCT5_ENST00000515676.1_Silent_p.K51K|CCT5_ENST00000515390.1_Intron	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	89					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AGATTGCCAAGCTGATGGTGG	0.428													A	10254886	G	A	10254886	2	1	364	1	0	0	0	0	0	0	0	1	2986	962	34	2		2	CCT5	5	10254886	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27155	10254886	170660374	4269	27771											
CCT5	22948	broad.mit.edu	37	chr5	10262654	10262654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatccggaacctcatccGcgataatcgtgtggtgtatg	8	12	11	10	4	2	0	2	0	0	0	5	2	4	1	3	2	1	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10262654G>A	ENST00000280326.4	+	9	1661	c.1241G>A	c.(1240-1242)cGc>cAc	p.R414H	CCT5_ENST00000506600.1_Missense_Mutation_p.R321H|CCT5_ENST00000503026.1_Missense_Mutation_p.R393H|CCT5_ENST00000515676.1_Missense_Mutation_p.R376H|CCT5_ENST00000515390.1_Missense_Mutation_p.R359H	NM_012073.3	NP_036205.1	P48643	TCPE_HUMAN	chaperonin containing TCP1, subunit 5 (epsilon)	414					'de novo' posttranslational protein folding|response to virus	microtubule organizing center|nucleolus	ATP binding|unfolded protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(2)	26						AACCTCATCCGCGATAATCGT	0.493													A	10262654	G	A	10262654	3	1	364	1	0	0	0	0	1	0	0	0	2986	1087	38	1	1275	1	CCT5	5	10262654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7768	10262654	170652606	4270	27772											
MARCH6	10299	broad.mit.edu	37	chr5	10387155	10387155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgtgagctcactactgacGctgccattagatatgctgtc	8	12	9	12	2	1	3	1	2	0	1	3	3	2	3	2	0	4	3	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10387155G>A	ENST00000274140.5	+	5	516	c.384G>A	c.(382-384)acG>acA	p.T128T	MARCH6_ENST00000449913.2_Silent_p.T80T|MARCH6_ENST00000503788.1_Silent_p.T23T	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	128					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CACTACTGACGCTGCCATTAG	0.428													A	10387155	G	A	10387155	2	1	364	1	0	0	0	0	0	0	0	1	9380	1074	38	1		1	MARCH6	5	10387155	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124501	10387155	170528105	4271	27773											
MARCH6	10299	broad.mit.edu	37	chr5	10411624	10411624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggctttcagccttaccGccgacctttaaattttccac	7	15	6	13	2	1	0	1	0	0	0	2	1	2	0	5	1	2	2	5	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:10411624G>A	ENST00000274140.5	+	19	2003	c.1871G>A	c.(1870-1872)cGc>cAc	p.R624H	MARCH6_ENST00000449913.2_Missense_Mutation_p.R576H|MARCH6_ENST00000510792.1_Missense_Mutation_p.R322H|MARCH6_ENST00000503788.1_Missense_Mutation_p.R519H	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	624					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CAGCCTTACCGCCGACCTTTA	0.458													A	10411624	G	A	10411624	3	1	364	1	0	0	0	0	1	0	0	0	9380	1087	38	1	1945	1	MARCH6	5	10411624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24469	10411624	170503636	4272	27774											
CTNND2	1501	broad.mit.edu	37	chr5	11236855	11236855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttgcaagtaggctgccGcgttagactggaccgaggga	8	8	17	8	3	0	1	0	0	0	1	0	4	0	3	2	4	2	5	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11236855G>A	ENST00000304623.8	-	10	1898	c.1709C>T	c.(1708-1710)gCg>gTg	p.A570V	CTNND2_ENST00000503622.1_Missense_Mutation_p.A233V|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.A570V|CTNND2_ENST00000511377.1_Missense_Mutation_p.A479V|CTNND2_ENST00000458100.2_Missense_Mutation_p.A137V	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	570					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GTAGGCTGCCGCGTTAGACTG	0.473													A	11236855	G	A	11236855	3	1	364	1	0	0	0	0	1	0	0	0	4053	1087	38	1	2020	1	CTNND2	5	11236855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	825231	11236855	169678405	4273	27775											
CTNND2	1501	broad.mit.edu	37	chr5	11364911	11364911	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatagacgcggtcttcataGatgggatctatgtggtgttc	8	14	13	6	2	3	3	1	1	2	2	4	4	3	4	0	3	0	1	0	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:11364911G>T	ENST00000304623.8	-	8	1458	c.1269C>A	c.(1267-1269)atC>atA	p.I423I	CTNND2_ENST00000503622.1_Silent_p.I86I|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Silent_p.I423I|CTNND2_ENST00000511377.1_Silent_p.I332I|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	423					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGTCTTCATAGATGGGATCTA	0.612													T	11364911	G	T	11364911	2	4	364	1	0	0	0	0	0	0	0	1	4053	932	33	4		4	CTNND2	5	11364911	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128056	11364911	169550349	4274	27776											
DNAH5	1767	broad.mit.edu	37	chr5	13708294	13708294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgcatctcgcagattttCgctcatgatgatggtgccat	9	13	9	10	2	2	3	1	2	1	1	4	3	2	3	1	1	2	3	1	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13708294C>T	ENST00000265104.4	-	76	13380	c.13276G>A	c.(13276-13278)Gaa>Aaa	p.E4426K		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	4426					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CGCAGATTTTCGCTCATGATG	0.463									Kartagener syndrome				T	13708294	C	T	13708294	3	4	364	1	0	0	0	0	1	0	0	0	4643	893	31	1	614	1	DNAH5	5	13708294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2343383	13708294	167206966	4275	27777											
DNAH5	1767	broad.mit.edu	37	chr5	13737379	13737379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaggtctgtattcctcccGggctgagttaatttgaactt	8	14	9	10	1	1	2	0	2	1	0	3	2	3	2	3	2	1	3	3	2	3	5	rs140948493	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13737379G>A	ENST00000265104.4	-	66	11541	c.11437C>T	c.(11437-11439)Cgg>Tgg	p.R3813W		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3813					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TATTCCTCCCGGGCTGAGTTA	0.423									Kartagener syndrome				A	13737379	G	A	13737379	3	1	364	1	0	0	0	0	1	0	0	0	4643	1115	39	1	2493	1	DNAH5	5	13737379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29085	13737379	167177881	4276	27778											
DNAH5	1767	broad.mit.edu	37	chr5	13758996	13758996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatactcagcctgcaccaCgtcaagttccgcctgcttgt	7	12	7	15	2	3	0	3	0	0	0	4	0	4	0	4	0	4	3	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13758996C>T	ENST00000265104.4	-	61	10482	c.10378G>A	c.(10378-10380)Gtg>Atg	p.V3460M		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3460	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCCTGCACCACGTCAAGTTCC	0.547									Kartagener syndrome				T	13758996	C	T	13758996	3	4	364	1	0	0	0	0	1	0	0	0	4643	536	19	1	3572	1	DNAH5	5	13758996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21617	13758996	167156264	4277	27779											
DNAH5	1767	broad.mit.edu	37	chr5	13759067	13759067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatggccaggagatggCgattctcttgcaccaccaag	9	8	11	13	1	1	1	0	0	1	1	2	3	1	1	4	3	2	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13759067C>T	ENST00000265104.4	-	61	10411	c.10307G>A	c.(10306-10308)cGc>cAc	p.R3436H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3436	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGGAGATGGCGATTCTCTTG	0.547									Kartagener syndrome				T	13759067	C	T	13759067	3	4	364	1	0	0	0	0	1	0	0	0	4643	768	27	1	3643	1	DNAH5	5	13759067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	13759067	167156193	4278	27780											
DNAH5	1767	broad.mit.edu	37	chr5	13781003	13781004	+	Frame_Shift_Ins	INS	-	-	T																															ccaacctcgtcaggctctgcINStttcctgatccgcccacccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13781003_13781004insT	ENST00000265104.4	-	53	8989_8990	c.8885_8886insA	c.(8884-8886)aagfs	p.K2962fs		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2962	AAA 4 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TCAGGCTCTGCTTTCCTGATCC	0.465									Kartagener syndrome				T	13781004	-	T	13781003	7	5	364	1	0	1	1	0	0	0	0	0	4643	796	28	0	5096	0	DNAH5	5	13781003	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	21936	13781003	167134257	4279	27781											
DNAH5	1767	broad.mit.edu	37	chr5	13814920	13814920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcaatccagatggcatCtactggaccatcaagaatta	14	12	6	9	0	3	2	2	0	1	2	4	3	4	3	2	2	1	1	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13814920C>A	ENST00000265104.4	-	43	7128	c.7024G>T	c.(7024-7026)Gat>Tat	p.D2342Y		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2342	AAA 2 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGATGGCATCTACTGGACCA	0.398									Kartagener syndrome				A	13814920	C	A	13814920	3	1	364	1	0	0	0	0	1	0	0	0	4643	913	32	4	6998	4	DNAH5	5	13814920	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33917	13814920	167100340	4280	27782											
DNAH5	1767	broad.mit.edu	37	chr5	13864621	13864621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttatcctttcccagtgcCgctccatcatggctttactg	5	15	8	13	1	1	0	1	0	0	0	4	0	4	0	4	2	2	3	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13864621C>T	ENST00000265104.4	-	28	4585	c.4481G>A	c.(4480-4482)cGg>cAg	p.R1494Q	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1494	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCCCAGTGCCGCTCCATCAT	0.478									Kartagener syndrome				T	13864621	C	T	13864621	3	4	364	1	0	0	0	0	1	0	0	0	4643	652	23	1	9601	1	DNAH5	5	13864621	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49701	13864621	167050639	4281	27783											
DNAH5	1767	broad.mit.edu	37	chr5	13891148	13891148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaagctgacaaagaggCgtgctgctcatttcttctag	9	11	13	8	1	3	2	1	1	2	1	3	3	3	3	0	3	3	3	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:13891148C>T	ENST00000265104.4	-	17	2618	c.2514G>A	c.(2512-2514)acG>acA	p.T838T	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	838	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GACAAAGAGGCGTGCTGCTCA	0.408									Kartagener syndrome				T	13891148	C	T	13891148	2	4	364	1	0	0	0	0	0	0	0	1	4643	755	27	1		1	DNAH5	5	13891148	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26527	13891148	167024112	4282	27784											
TRIO	7204	broad.mit.edu	37	chr5	14399169	14399169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcaagtacctttataaaaGcaaattgtttgtaagtatag	17	13	7	4	0	0	0	0	0	0	0	0	0	0	0	1	0	3	6	1	0	10	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14399169G>A	ENST00000344204.4	+	30	4628	c.4604G>A	c.(4603-4605)aGc>aAc	p.S1535N	TRIO_ENST00000509967.2_Missense_Mutation_p.S1486N|TRIO_ENST00000537187.1_Missense_Mutation_p.S1535N	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1535	PH 1.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CTTTATAAAAGCAAATTGTTT	0.358													A	14399169	G	A	14399169	3	1	364	1	0	0	0	0	1	0	0	0	16653	971	34	2	4722	2	TRIO	5	14399169	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508021	14399169	166516091	4283	27785											
TRIO	7204	broad.mit.edu	37	chr5	14462920	14462920	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccaaatcctcctcctcgggGatgcagagctgtggagaaga	10	8	12	11	1	0	3	0	0	0	3	5	5	4	4	4	3	2	2	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14462920G>T	ENST00000344204.4	+	36	5577	c.5553G>T	c.(5551-5553)ggG>ggT	p.G1851G	TRIO_ENST00000515710.1_3'UTR|TRIO_ENST00000537187.1_Silent_p.G1851G	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1851					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTCCTCGGGGATGCAGAGCT	0.612													T	14462920	G	T	14462920	2	4	364	1	0	0	0	0	0	0	0	1	16653	1161	41	4		4	TRIO	5	14462920	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63751	14462920	166452340	4284	27786											
TRIO	7204	broad.mit.edu	37	chr5	14471491	14471491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtagcagcccttccttcaAcccttcggataattcccttc	8	13	5	15	1	1	0	1	0	0	0	5	1	3	1	4	1	3	2	4	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14471491A>G	ENST00000344204.4	+	38	5852	c.5828A>G	c.(5827-5829)aAc>aGc	p.N1943S	TRIO_ENST00000537187.1_Missense_Mutation_p.N1943S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1943					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					CCTTCCTTCAACCCTTCGGAT	0.463													G	14471491	A	G	14471491	3	3	364	1	0	0	0	0	1	0	0	0	16653	43	2	3	5978	3	TRIO	5	14471491	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8571	14471491	166443769	4285	27787											
ANKH	56172	broad.mit.edu	37	chr5	14713083	14713083	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggtcgcaccgtgcaccCtgcagatgagaacacaaagg	12	4	12	13	2	0	2	0	1	0	2	1	3	0	2	3	2	3	3	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:14713083C>A	ENST00000284268.6	-	11	1596		c.e11-1		ANKH_ENST00000535119.1_Splice_Site	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator						locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						ACCGTGCACCCTGCAGATGAG	0.577													A	14713083	C	A	14713083	5	1	364	1	0	0	0	0	0	0	1	0	627	695	24	4	221	4	ANKH	5	14713083	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	241592	14713083	166202177	4286	27788											
ZNF622	90441	broad.mit.edu	37	chr5	16465590	16465590	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaggtggccgagcccttgCtctcctcctccgcgacggcc	4	8	12	17	4	1	0	0	0	1	0	4	2	3	0	6	3	2	2	6	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16465590C>A	ENST00000308683.2	-	1	311	c.185G>T	c.(184-186)aGc>aTc	p.S62I		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	62						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGAGCCCTTGCTCTCCTCCTC	0.652													A	16465590	C	A	16465590	3	1	364	1	0	0	0	0	1	0	0	0	18147	797	28	4	1272	4	ZNF622	5	16465590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1752507	16465590	164449670	4287	27789											
MYO10	4651	broad.mit.edu	37	chr5	16671615	16671615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaagtttgaagtagaatttCcatggcaggtccccaacctc	12	11	8	10	0	0	2	0	1	0	1	3	2	2	2	4	2	1	3	4	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16671615C>A	ENST00000513610.1	-	38	5800	c.5346G>T	c.(5344-5346)tgG>tgT	p.W1782C	MYO10_ENST00000274203.9_Missense_Mutation_p.W1139C|MYO10_ENST00000505695.1_Missense_Mutation_p.W1121C|MYO10_ENST00000515803.1_Missense_Mutation_p.W1121C|MYO10_ENST00000427430.2_Missense_Mutation_p.W1139C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1782	FERM.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						AGTAGAATTTCCATGGCAGGT	0.483													A	16671615	C	A	16671615	3	1	364	1	0	0	0	0	1	0	0	0	10138	856	30	4	846	4	MYO10	5	16671615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206025	16671615	164243645	4288	27790											
MYO10	4651	broad.mit.edu	37	chr5	16676221	16676221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcgaaggatcgggttccGcttgtaaatctgttccacca	9	12	10	10	3	1	0	0	0	1	0	5	2	3	1	3	2	0	5	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16676221G>A	ENST00000513610.1	-	34	5039	c.4585C>T	c.(4585-4587)Cgg>Tgg	p.R1529W	MYO10_ENST00000274203.9_Missense_Mutation_p.R886W|MYO10_ENST00000505695.1_Missense_Mutation_p.R868W|MYO10_ENST00000515803.1_Missense_Mutation_p.R868W|MYO10_ENST00000427430.2_Missense_Mutation_p.R886W	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1529					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATCGGGTTCCGCTTGTAAATC	0.463													A	16676221	G	A	16676221	3	1	364	1	0	0	0	0	1	0	0	0	10138	1086	38	1	1623	1	MYO10	5	16676221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4606	16676221	164239039	4289	27791											
MYO10	4651	broad.mit.edu	37	chr5	16689991	16689991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatcggccataatgatgtCgatcccattctccttggtgg	7	13	9	12	2	1	1	0	1	1	0	5	2	2	1	4	3	0	0	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16689991C>T	ENST00000513610.1	-	28	4292	c.3838G>A	c.(3838-3840)Gac>Aac	p.D1280N	MYO10_ENST00000274203.9_Missense_Mutation_p.D637N|MYO10_ENST00000505695.1_Missense_Mutation_p.D619N|MYO10_ENST00000515803.1_Missense_Mutation_p.D619N|MYO10_ENST00000427430.2_Missense_Mutation_p.D637N	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1280	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						ATAATGATGTCGATCCCATTC	0.463													T	16689991	C	T	16689991	3	4	364	1	0	0	0	0	1	0	0	0	10138	884	31	1	2394	1	MYO10	5	16689991	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13770	16689991	164225269	4290	27792											
MYO10	4651	broad.mit.edu	37	chr5	16702672	16702672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggcgcggagctcggCttctcttcgctctctctctc	1	13	11	16	4	3	0	0	0	3	0	9	1	3	1	0	3	2	4	0	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16702672C>T	ENST00000513610.1	-	24	2990	c.2536G>A	c.(2536-2538)Gcc>Acc	p.A846T	MYO10_ENST00000274203.9_Missense_Mutation_p.A203T|MYO10_ENST00000505695.1_Missense_Mutation_p.A185T|MYO10_ENST00000515803.1_Missense_Mutation_p.A185T|MYO10_ENST00000427430.2_Missense_Mutation_p.A203T	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	846					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CGGAGCTCGGCTTCTCTTCGC	0.423													T	16702672	C	T	16702672	3	4	364	1	0	0	0	0	1	0	0	0	10138	797	28	2	3712	2	MYO10	5	16702672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12681	16702672	164212588	4291	27793											
MYO10	4651	broad.mit.edu	37	chr5	16763613	16763613	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatcaagtccaggcattCtccattgtctatccagtcaa	11	12	5	13	0	5	0	3	0	2	0	8	0	7	0	3	1	0	1	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:16763613C>A	ENST00000513610.1	-	14	1925	c.1471G>T	c.(1471-1473)Gaa>Taa	p.E491*		NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	491	Myosin head-like.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TCCAGGCATTCTCCATTGTCT	0.373													A	16763613	C	A	16763613	4	1	364	1	0	0	0	0	0	1	0	0	10138	922	32	4	4817	4	MYO10	5	16763613	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60941	16763613	164151647	4292	27794											
CDH18	1016	broad.mit.edu	37	chr5	19571703	19571703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccttactaagctgttaGtactgtcaggatcttgtgcc	9	14	8	10	0	2	0	1	0	1	0	2	1	2	1	2	1	5	3	2	1	5	6	rs17856908		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:19571703G>T	ENST00000507958.1	-	10	2228	c.1238C>A	c.(1237-1239)aCt>aAt	p.T413N	CDH18_ENST00000511273.1_Missense_Mutation_p.T413N|CDH18_ENST00000506372.1_Missense_Mutation_p.T413N|CDH18_ENST00000502796.1_Missense_Mutation_p.T413N|CDH18_ENST00000274170.4_Missense_Mutation_p.T413N|CDH18_ENST00000382275.1_Missense_Mutation_p.T413N			Q13634	CAD18_HUMAN	cadherin 18, type 2	413	Cadherin 4.			T -> I (in Ref. 4; AAH31051).	adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TAAGCTGTTAGTACTGTCAGG	0.378													T	19571703	G	T	19571703	3	4	364	1	0	0	0	0	1	0	0	0	3133	1029	36	4	1158	4	CDH18	5	19571703	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2808090	19571703	161343557	4293	27795											
CDH12	1010	broad.mit.edu	37	chr5	21751923	21751923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaagcggggtccccagtCtgtcagatagtcatagtcct	9	12	10	10	1	3	1	2	0	1	1	5	1	5	1	3	2	1	0	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21751923C>A	ENST00000382254.1	-	15	3394	c.2308G>T	c.(2308-2310)Gac>Tac	p.D770Y	CDH12_ENST00000522262.1_Missense_Mutation_p.D730Y|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Missense_Mutation_p.D770Y	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	770					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GGTCCCCAGTCTGTCAGATAG	0.507										HNSCC(59;0.17)			A	21751923	C	A	21751923	3	1	364	1	0	0	0	0	1	0	0	0	3128	913	32	4	80	4	CDH12	5	21751923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2180220	21751923	159163337	4294	27796											
CDH12	1010	broad.mit.edu	37	chr5	21854856	21854856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggcactgtttccataggtCgggtcatctgcatctgtggc	5	13	12	11	1	3	0	1	0	2	0	5	0	4	0	1	4	1	3	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21854856C>T	ENST00000382254.1	-	7	1656	c.570G>A	c.(568-570)ccG>ccA	p.P190P	CDH12_ENST00000522262.1_Intron|CDH12_ENST00000521384.1_5'UTR|CDH12_ENST00000504376.2_Silent_p.P190P	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	190	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCCATAGGTCGGGTCATCTG	0.403										HNSCC(59;0.17)			T	21854856	C	T	21854856	2	4	364	1	0	0	0	0	0	0	0	1	3128	871	31	1		1	CDH12	5	21854856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102933	21854856	159060404	4295	27797											
CDH12	1010	broad.mit.edu	37	chr5	21975343	21975343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtccacagcctgagcaCgaagagtgtagaaaggtttc	12	9	11	9	1	0	3	0	1	0	2	2	4	1	3	2	1	2	3	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:21975343C>T	ENST00000382254.1	-	6	1469	c.383G>A	c.(382-384)cGt>cAt	p.R128H	CDH12_ENST00000522262.1_Missense_Mutation_p.R128H|CDH12_ENST00000504376.2_Missense_Mutation_p.R128H	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	128	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						AGCCTGAGCACGAAGAGTGTA	0.443										HNSCC(59;0.17)			T	21975343	C	T	21975343	3	4	364	1	0	0	0	0	1	0	0	0	3128	536	19	1	2041	1	CDH12	5	21975343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120487	21975343	158939917	4296	27798											
PRDM9	56979	broad.mit.edu	37	chr5	23523466	23523466	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctgggccaactggatgAggtaaggccagtagctctct	10	9	12	10	0	1	1	0	1	1	0	3	2	2	2	3	4	2	3	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23523466A>G	ENST00000296682.3	+	9	1131	c.949A>G	c.(949-951)Agg>Ggg	p.R317G		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	317	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CAACTGGATGAGGTAAGGCCA	0.428										HNSCC(3;0.000094)			G	23523466	A	G	23523466	5	3	364	1	0	0	0	0	0	0	1	0	12549	318	11	3	979	3	PRDM9	5	23523466	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1548123	23523466	157391794	4297	27799											
PRDM9	56979	broad.mit.edu	37	chr5	23524486	23524486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgaagagcagaacctggtgGccttccagtaccacaggcag	12	6	12	11	0	0	3	0	1	0	2	1	3	1	3	4	3	3	3	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:23524486G>A	ENST00000296682.3	+	10	1176	c.994G>A	c.(994-996)Gcc>Acc	p.A332T		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	332	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GAACCTGGTGGCCTTCCAGTA	0.527										HNSCC(3;0.000094)			A	23524486	G	A	23524486	3	1	364	1	0	0	0	0	1	0	0	0	12549	1203	42	2	1028	2	PRDM9	5	23524486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1020	23524486	157390774	4298	27800											
CDH10	1008	broad.mit.edu	37	chr5	24488135	24488135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgccgatatcaaaggcCtgggtgtcctcctctccacc	7	9	11	14	1	2	0	1	0	1	0	5	1	4	0	6	3	1	0	6	3	2	1	rs146231810		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24488135C>A	ENST00000264463.4	-	12	2511	c.2004G>T	c.(2002-2004)caG>caT	p.Q668H	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	668					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TATCAAAGGCCTGGGTGTCCT	0.458										HNSCC(23;0.051)			A	24488135	C	A	24488135	3	1	364	1	0	0	0	0	1	0	0	0	3126	680	24	4	366	4	CDH10	5	24488135	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	963649	24488135	156427125	4299	27801											
CDH10	1008	broad.mit.edu	37	chr5	24509872	24509872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taaaaacggggatctacatgGgtgttttctgcttcgacttt	9	15	10	7	2	2	0	0	0	2	0	3	2	2	1	0	3	3	2	0	3	4	6	rs144567766	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:24509872G>A	ENST00000264463.4	-	7	1566	c.1059C>T	c.(1057-1059)acC>acT	p.T353T		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	353	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GATCTACATGGGTGTTTTCTG	0.368										HNSCC(23;0.051)			A	24509872	G	A	24509872	2	1	364	1	0	0	0	0	0	0	0	1	3126	1219	43	2		2	CDH10	5	24509872	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21737	24509872	156405388	4300	27802											
C5orf22	55322	broad.mit.edu	37	chr5	31552974	31552974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctatggaaatctagacCtccaagtgtatgcagcagag	12	9	9	11	0	2	2	0	0	2	2	3	3	3	3	3	1	2	3	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:31552974C>A	ENST00000355907.3	+	10	1619	c.457C>A	c.(457-459)Ctc>Atc	p.L153I	C5orf22_ENST00000504866.1_3'UTR|C5orf22_ENST00000325366.9_Missense_Mutation_p.L432I			Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	432										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						AAATCTAGACCTCCAAGTGTA	0.403													A	31552974	C	A	31552974	3	1	364	1	0	0	0	0	1	0	0	0	2307	681	24	4	1328	4	C5orf22	5	31552974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7043102	31552974	149362286	4301	27803											
PDZD2	23037	broad.mit.edu	37	chr5	32059379	32059379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaggcattggtgcctgctgCttggctctggaaaacagtcc	7	12	12	10	0	1	0	0	0	1	0	2	1	2	1	2	4	4	4	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32059379C>T	ENST00000438447.1	+	13	2623	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C	PDZD2_ENST00000282493.3_Silent_p.C745C			O15018	PDZD2_HUMAN	PDZ domain containing 2	745	PDZ 4.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTGCCTGCTGCTTGGCTCTGG	0.443													T	32059379	C	T	32059379	2	4	364	1	0	0	0	0	0	0	0	1	11777	805	28	2		2	PDZD2	5	32059379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506405	32059379	148855881	4302	27804											
PDZD2	23037	broad.mit.edu	37	chr5	32088109	32088109	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttactgtgaacaaaaacTttctgagcaactactctaga	15	13	5	8	0	2	3	0	2	2	1	2	3	2	3	0	0	6	1	0	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32088109T>G	ENST00000438447.1	+	20	4943	c.4555T>G	c.(4555-4557)Ttt>Gtt	p.F1519V	PDZD2_ENST00000282493.3_Missense_Mutation_p.F1519V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1519					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GAACAAAAACTTTCTGAGCAA	0.498													G	32088109	T	G	32088109	3	3	364	1	0	0	0	0	1	0	0	0	11777	1609	56	5	4629	5	PDZD2	5	32088109	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28730	32088109	148827151	4303	27805											
PDZD2	23037	broad.mit.edu	37	chr5	32089262	32089262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactctgaggcccctgctgCgaatgctgtgaaggctgggg	7	8	15	11	1	1	2	0	2	1	0	1	3	1	2	2	4	4	3	2	4	3	0	rs138400638		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32089262C>T	ENST00000438447.1	+	20	6096	c.5708C>T	c.(5707-5709)gCg>gTg	p.A1903V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A1903V			O15018	PDZD2_HUMAN	PDZ domain containing 2	1903					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GCCCCTGCTGCGAATGCTGTG	0.552													T	32089262	C	T	32089262	3	4	364	1	0	0	0	0	1	0	0	0	11777	768	27	1	5782	1	PDZD2	5	32089262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1153	32089262	148825998	4304	27806											
PDZD2	23037	broad.mit.edu	37	chr5	32091031	32091031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccttgagcatgcctgacCttgacaagctctgcagcgag	9	8	12	12	1	1	3	0	3	1	0	1	5	1	3	3	0	6	3	3	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32091031C>A	ENST00000438447.1	+	20	7865	c.7477C>A	c.(7477-7479)Ctt>Att	p.L2493I	PDZD2_ENST00000282493.3_Missense_Mutation_p.L2493I			O15018	PDZD2_HUMAN	PDZ domain containing 2	2493		Cleavage; by caspases (By similarity).			cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CATGCCTGACCTTGACAAGCT	0.612													A	32091031	C	A	32091031	3	1	364	1	0	0	0	0	1	0	0	0	11777	681	24	4	7551	4	PDZD2	5	32091031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1769	32091031	148824229	4305	27807											
GOLPH3	64083	broad.mit.edu	37	chr5	32126330	32126330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagagttacttggtgaaCgccgccaccaccgcccacag	10	5	11	15	3	0	2	0	1	0	1	0	3	0	2	5	1	3	2	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32126330C>T	ENST00000265070.6	-	4	1200	c.885G>A	c.(883-885)gcG>gcA	p.A295A		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	295					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding	p.A295A(1)		kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						ACTTGGTGAACGCCGCCACCA	0.478													T	32126330	C	T	32126330	2	4	364	1	0	0	0	0	0	0	0	1	6621	523	19	1		1	GOLPH3	5	32126330	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35299	32126330	148788930	4306	27808											
MTMR12	54545	broad.mit.edu	37	chr5	32268851	32268851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataggaaaacagaaataatCgtttaagcagtttaggagcc	17	9	9	6	1	0	1	0	0	0	1	1	3	0	3	1	2	3	3	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32268851C>T	ENST00000382142.3	-	6	709	c.539G>A	c.(538-540)cGa>cAa	p.R180Q	MTMR12_ENST00000264934.5_Missense_Mutation_p.R180Q|MTMR12_ENST00000280285.5_Missense_Mutation_p.R180Q	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	180						cytoplasm	phosphatase activity	p.R180Q(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CAGAAATAATCGTTTAAGCAG	0.378													T	32268851	C	T	32268851	3	4	364	1	0	0	0	0	1	0	0	0	10017	884	31	1	1748	1	MTMR12	5	32268851	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142521	32268851	148646409	4307	27809											
ZFR	51663	broad.mit.edu	37	chr5	32364315	32364315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcaaaaactcttctcaGtgcatccccagggctctgag	10	10	8	13	0	4	1	2	1	3	0	6	1	5	1	2	1	2	3	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32364315G>T	ENST00000265069.8	-	18	3004	c.2902C>A	c.(2902-2904)Ctg>Atg	p.L968M	ZFR_ENST00000510369.1_5'UTR	NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	968	DZF.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		ACTCTTCTCAGTGCATCCCCA	0.358													T	32364315	G	T	32364315	3	4	364	1	0	0	0	0	1	0	0	0	17760	1020	36	4	334	4	ZFR	5	32364315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95464	32364315	148550945	4308	27810											
NPR3	4883	broad.mit.edu	37	chr5	32738972	32738972	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttatttcttccataggaGatggctcatggaagagagga	11	14	11	5	0	2	2	1	0	1	2	3	6	3	4	1	4	0	1	1	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:32738972G>T	ENST00000265074.8	+	3	1238	c.895G>T	c.(895-897)Gat>Tat	p.D299Y	NPR3_ENST00000434067.2_Missense_Mutation_p.D83Y|NPR3_ENST00000415167.2_Missense_Mutation_p.D299Y|NPR3_ENST00000415685.2_Missense_Mutation_p.D83Y	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	299					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	TTCCATAGGAGATGGCTCATG	0.458													T	32738972	G	T	32738972	3	4	364	1	0	0	0	0	1	0	0	0	10672	942	33	4	905	4	NPR3	5	32738972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	374657	32738972	148176288	4309	27811											
ADAMTS12	81792	broad.mit.edu	37	chr5	33549430	33549430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaggttccggtggtccCggctgtccacgcactgaatc	5	9	12	15	3	1	1	1	1	0	0	5	1	4	1	4	4	0	3	4	4	1	1	rs147732973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33549430C>T	ENST00000504830.1	-	21	4519	c.4184G>A	c.(4183-4185)cGg>cAg	p.R1395Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R1310Q	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1395	TSP type-1 6.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCGGTGGTCCCGGCTGTCCAC	0.572										HNSCC(64;0.19)			T	33549430	C	T	33549430	3	4	364	1	0	0	0	0	1	0	0	0	257	652	23	1	616	1	ADAMTS12	5	33549430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	810458	33549430	147365830	4310	27812											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576661	33576661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcttcccctgagccaCtgtgaatctccatttctgga	6	15	6	14	0	4	2	0	2	4	0	6	3	5	3	4	1	1	0	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33576661C>A	ENST00000504830.1	-	19	3805	c.3470G>T	c.(3469-3471)aGt>aTt	p.S1157I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.S1072I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1157	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CCCTGAGCCACTGTGAATCTC	0.468										HNSCC(64;0.19)			A	33576661	C	A	33576661	3	1	364	1	0	0	0	0	1	0	0	0	257	565	20	4	1338	4	ADAMTS12	5	33576661	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27231	33576661	147338599	4311	27813											
ADAMTS12	81792	broad.mit.edu	37	chr5	33577233	33577233	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcacatgtgacactgcgAatccgcactccaccaccaca	11	7	7	16	2	0	1	0	1	0	0	2	2	2	1	4	1	1	2	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33577233A>G	ENST00000504830.1	-	19	3233	c.2898T>C	c.(2896-2898)atT>atC	p.I966I	ADAMTS12_ENST00000352040.3_Silent_p.I881I|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TGACACTGCGAATCCGCACTC	0.498										HNSCC(64;0.19)			G	33577233	A	G	33577233	2	3	364	1	0	0	0	0	0	0	0	1	257	242	9	3		3	ADAMTS12	5	33577233	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	572	33577233	147338027	4312	27814											
RXFP3	51289	broad.mit.edu	37	chr5	33937928	33937928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgcggtgcccttcagccaGgagtatttcctgtgccaggt	7	10	12	12	2	1	0	1	0	0	0	2	1	2	1	4	3	4	1	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937928G>T	ENST00000330120.3	+	1	1438	c.1083G>T	c.(1081-1083)caG>caT	p.Q361H		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	361						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						CCTTCAGCCAGGAGTATTTCC	0.602													T	33937928	G	T	33937928	3	4	364	1	0	0	0	0	1	0	0	0	13852	991	35	4	1085	4	RXFP3	5	33937928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360695	33937928	146977332	4313	27815											
RXFP3	51289	broad.mit.edu	37	chr5	33937967	33937967	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatacgcgttccctgtgagCgtgtgcctagcgcactccaa	7	10	11	13	4	0	1	0	1	0	0	2	1	2	1	3	0	4	3	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33937967C>T	ENST00000330120.3	+	1	1477	c.1122C>T	c.(1120-1122)agC>agT	p.S374S		NM_016568.3	NP_057652.1	Q9NSD7	RL3R1_HUMAN	relaxin/insulin-like family peptide receptor 3	374						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						TCCCTGTGAGCGTGTGCCTAG	0.622													T	33937967	C	T	33937967	2	4	364	1	0	0	0	0	0	0	0	1	13852	767	27	1		1	RXFP3	5	33937967	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	33937967	146977293	4314	27816											
SLC45A2	51151	broad.mit.edu	37	chr5	33984573	33984573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttccgaacatggccatgCtgtgcatgatgagtctgctg	7	12	11	11	1	2	2	0	2	2	0	3	3	3	2	2	1	4	3	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984573C>T	ENST00000382102.3	-	1	173	c.116G>A	c.(115-117)aGc>aAc	p.S39N	SLC45A2_ENST00000509381.1_Missense_Mutation_p.S39N|SLC45A2_ENST00000296589.4_Missense_Mutation_p.S39N|SLC45A2_ENST00000342059.3_Missense_Mutation_p.S39N|SLC45A2_ENST00000345083.5_Missense_Mutation_p.S39N	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	39					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CATGGCCATGCTGTGCATGAT	0.577													T	33984573	C	T	33984573	3	4	364	1	0	0	0	0	1	0	0	0	14735	797	28	2	1519	2	SLC45A2	5	33984573	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46606	33984573	146930687	4315	27817											
SLC45A2	51151	broad.mit.edu	37	chr5	33984677	33984677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcggccagcctgcccactGttgctacccatggccactgg	5	8	12	16	1	0	0	0	0	0	0	0	0	0	0	5	4	4	2	5	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:33984677G>A	ENST00000382102.3	-	1	69	c.12C>T	c.(10-12)aaC>aaT	p.N4N	SLC45A2_ENST00000509381.1_Silent_p.N4N|SLC45A2_ENST00000296589.4_Silent_p.N4N|SLC45A2_ENST00000342059.3_Silent_p.N4N|SLC45A2_ENST00000345083.5_Silent_p.N4N	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	4					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						CCTGCCCACTGTTGCTACCCA	0.572													A	33984677	G	A	33984677	2	1	364	1	0	0	0	0	0	0	0	1	14735	1368	48	2		2	SLC45A2	5	33984677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104	33984677	146930583	4316	27818											
RAI14	26064	broad.mit.edu	37	chr5	34803818	34803818	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaaaaatccatttaggAcacagcgccttacatctcgc	13	11	6	11	2	1	1	0	1	1	0	3	2	2	2	2	1	2	0	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34803818A>G	ENST00000265109.3	+	5	545	c.258A>G	c.(256-258)ggA>ggG	p.G86G	RAI14_ENST00000428746.2_Splice_Site_p.G86G|RAI14_ENST00000397449.1_Splice_Site_p.G79G|RAI14_ENST00000515799.1_Splice_Site_p.G89G|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Splice_Site_p.G78G|RAI14_ENST00000503673.1_Splice_Site_p.G86G|RAI14_ENST00000512629.1_Splice_Site_p.G86G	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	86						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					tCCATTTAGGACACAGCGCCT	0.358													G	34803818	A	G	34803818	5	3	364	1	0	0	0	0	0	0	1	0	13096	289	10	3	337	3	RAI14	5	34803818	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	819141	34803818	146111442	4317	27819											
RAI14	26064	broad.mit.edu	37	chr5	34808726	34808726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagctgtgcagattctctgCgaacacaagagccccataaa	14	7	8	12	1	1	2	0	0	1	2	2	3	1	2	2	0	5	2	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34808726C>T	ENST00000265109.3	+	7	704	c.417C>T	c.(415-417)tgC>tgT	p.C139C	RAI14_ENST00000428746.2_Silent_p.C139C|RAI14_ENST00000397449.1_Silent_p.C132C|RAI14_ENST00000515799.1_Silent_p.C142C|RAI14_ENST00000507276.1_3'UTR|RAI14_ENST00000506376.1_Silent_p.C131C|RAI14_ENST00000503673.1_Silent_p.C139C|RAI14_ENST00000512629.1_Silent_p.C139C	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	139						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					AGATTCTCTGCGAACACAAGA	0.478													T	34808726	C	T	34808726	2	4	364	1	0	0	0	0	0	0	0	1	13096	776	27	1		1	RAI14	5	34808726	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4908	34808726	146106534	4318	27820											
RAD1	5810	broad.mit.edu	37	chr5	34911753	34911753	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggagcccctctgactgcaGaataattttattaataacat	14	12	6	9	1	1	2	0	1	1	1	1	3	1	3	2	1	3	1	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911753G>T	ENST00000382038.2	-	4	1891	c.472C>A	c.(472-474)Ctg>Atg	p.L158M	RAD1_ENST00000341754.4_Missense_Mutation_p.L158M	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	158					DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TCTGACTGCAGAATAATTTTA	0.423								Other conserved DNA damage response genes					T	34911753	G	T	34911753	3	4	364	1	0	0	0	0	1	0	0	0	13066	933	33	4	388	4	RAD1	5	34911753	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103027	34911753	146003507	4319	27821											
RAD1	5810	broad.mit.edu	37	chr5	34911885	34911885	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaagggtaaccataacCttggtaacacattcgaagtg	15	9	8	9	1	1	0	1	0	0	0	2	1	1	0	2	2	3	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34911885C>A	ENST00000382038.2	-	4	1759	c.340G>T	c.(340-342)Ggt>Tgt	p.G114C	RAD1_ENST00000341754.4_Missense_Mutation_p.G114C	NM_002853.3	NP_002844.1	O60671	RAD1_HUMAN	RAD1 homolog (S. pombe)	114			G -> D (in dbSNP:rs2308957).		DNA damage checkpoint|DNA repair|DNA replication|meiotic prophase I	nucleoplasm	3'-5' exonuclease activity|damaged DNA binding|exodeoxyribonuclease III activity|protein binding			endometrium(3)|large_intestine(1)|lung(5)|urinary_tract(1)	10	all_lung(31;0.000107)	Lung NSC(810;5.19e-05)|Ovarian(839;0.0448)|Breast(839;0.198)	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAACCATAACCTTGGTAACAC	0.443								Other conserved DNA damage response genes					A	34911885	C	A	34911885	3	1	364	1	0	0	0	0	1	0	0	0	13066	681	24	4	520	4	RAD1	5	34911885	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132	34911885	146003375	4320	27822											
DNAJC21	134218	broad.mit.edu	37	chr5	34954715	34954715	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccatctcggaataaacttTttgaccatctaaaggccaca	13	12	5	11	1	2	1	0	1	2	0	4	2	3	2	3	2	1	0	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:34954715T>C	ENST00000382021.2	+	13	1854	c.1627T>C	c.(1627-1629)Ttt>Ctt	p.F543L	DNAJC21_ENST00000303525.7_Missense_Mutation_p.F511L|DNAJC21_ENST00000342382.4_Missense_Mutation_p.F498L	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	498					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GAATAAACTTTTTGACCATCT	0.388													C	34954715	T	C	34954715	3	2	364	1	0	0	0	0	1	0	0	0	4679	1841	64	3	1677	3	DNAJC21	5	34954715	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42830	34954715	145960545	4321	27823											
AGXT2	64902	broad.mit.edu	37	chr5	35040694	35040694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcacctggtatctttcagGcatgaagtcacatggaggca	10	11	10	10	0	4	1	3	1	2	0	5	2	4	2	1	4	0	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35040694G>A	ENST00000231420.6	-	2	363	c.163C>T	c.(163-165)Cct>Tct	p.P55S		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	55					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	TATCTTTCAGGCATGAAGTCA	0.423													A	35040694	G	A	35040694	3	1	364	1	0	0	0	0	1	0	0	0	405	1203	42	2	1433	2	AGXT2	5	35040694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85979	35040694	145874566	4322	27824											
PRLR	5618	broad.mit.edu	37	chr5	35070320	35070320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggtatttctgtcctggAtgtaggctgagaatcttaaa	12	13	10	6	0	2	1	0	1	2	1	3	3	3	2	1	3	0	3	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35070320A>T	ENST00000382002.5	-	7	1017	c.591T>A	c.(589-591)caT>caA	p.H197Q	PRLR_ENST00000231423.3_Missense_Mutation_p.H197Q|PRLR_ENST00000342362.5_Missense_Mutation_p.H96Q|PRLR_ENST00000511486.1_Missense_Mutation_p.H96Q|PRLR_ENST00000348262.3_Missense_Mutation_p.H197Q|PRLR_ENST00000513753.1_Missense_Mutation_p.H197Q|PRLR_ENST00000542609.1_Missense_Mutation_p.H197Q|PRLR_ENST00000397391.3_Missense_Mutation_p.H126Q|PRLR_ENST00000509934.1_5'UTR|PRLR_ENST00000310101.5_Missense_Mutation_p.H197Q	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	197	Fibronectin type-III 2.				activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TCTGTCCTGGATGTAGGCTGA	0.438													T	35070320	A	T	35070320	3	4	364	1	0	0	0	0	1	0	0	0	12617	330	12	5	1293	5	PRLR	5	35070320	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29626	35070320	145844940	4323	27825											
SPEF2	79925	broad.mit.edu	37	chr5	35641674	35641674	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgttatatcaattgtaCattgctcttcagaaaaagaa	16	13	6	6	0	3	2	2	0	1	2	3	2	3	2	0	0	3	4	0	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35641674C>T	ENST00000440995.2	+	3	303	c.303C>T	c.(301-303)taC>taT	p.Y101Y	SPEF2_ENST00000509059.1_Silent_p.Y101Y|SPEF2_ENST00000356031.3_Silent_p.Y101Y|SPEF2_ENST00000282469.6_Silent_p.Y101Y			Q9C093	SPEF2_HUMAN	sperm flagellar 2	101	CH.				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)			ATCAATTGTACATTGCTCTTC	0.413													T	35641674	C	T	35641674	2	4	364	1	0	0	0	0	0	0	0	1	15131	489	17	2		2	SPEF2	5	35641674	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571354	35641674	145273586	4324	27826											
SPEF2	79925	broad.mit.edu	37	chr5	35654816	35654816	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaccagttaatagcccaCgaagcacaagaggtaagata	17	6	10	8	1	0	2	0	0	0	2	0	4	0	3	2	2	2	3	2	2	6	4	rs139014576		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35654816C>T	ENST00000440995.2	+	7	966	c.966C>T	c.(964-966)caC>caT	p.H322H	SPEF2_ENST00000509059.1_Silent_p.H322H|SPEF2_ENST00000356031.3_Silent_p.H322H|SPEF2_ENST00000282469.6_Silent_p.H322H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	322					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)			TAATAGCCCACGAAGCACAAG	0.363													T	35654816	C	T	35654816	2	4	364	1	0	0	0	0	0	0	0	1	15131	535	19	1		1	SPEF2	5	35654816	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13142	35654816	145260444	4325	27827											
SPEF2	79925	broad.mit.edu	37	chr5	35667259	35667259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagattgctgtggaaagagCtcaagctcgttatgaaaagc	13	10	11	7	1	2	3	2	1	0	2	3	4	2	4	0	1	4	4	0	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35667259C>A	ENST00000440995.2	+	9	1253	c.1253C>A	c.(1252-1254)gCt>gAt	p.A418D	SPEF2_ENST00000509059.1_Missense_Mutation_p.A418D|SPEF2_ENST00000356031.3_Missense_Mutation_p.A418D|SPEF2_ENST00000282469.6_Missense_Mutation_p.A418D			Q9C093	SPEF2_HUMAN	sperm flagellar 2	418					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)			GTGGAAAGAGCTCAAGCTCGT	0.348													A	35667259	C	A	35667259	3	1	364	1	0	0	0	0	1	0	0	0	15131	797	28	4	1287	4	SPEF2	5	35667259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12443	35667259	145248001	4326	27828											
SPEF2	79925	broad.mit.edu	37	chr5	35691272	35691272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagcggaatcaacaacacCtgaattaccttcatttgctg	12	11	7	11	2	2	1	2	1	0	0	3	3	2	2	2	1	5	1	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35691272C>A	ENST00000440995.2	+	11	1658	c.1658C>A	c.(1657-1659)cCt>cAt	p.P553H	SPEF2_ENST00000509059.1_Missense_Mutation_p.P553H|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.P553H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	553					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)			TCAACAACACCTGAATTACCT	0.388													A	35691272	C	A	35691272	3	1	364	1	0	0	0	0	1	0	0	0	15131	681	24	4	1721	4	SPEF2	5	35691272	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24013	35691272	145223988	4327	27829											
SPEF2	79925	broad.mit.edu	37	chr5	35792449	35792449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtattataggcataatAggaaataaagcatttactga	17	13	7	4	0	0	1	0	1	0	0	0	2	0	2	0	2	2	3	0	2	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35792449A>G	ENST00000440995.2	+	31	4440	c.4440A>G	c.(4438-4440)atA>atG	p.I1480M	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000356031.3_Missense_Mutation_p.I1485M|SPEF2_ENST00000303129.4_Missense_Mutation_p.I282M			Q9C093	SPEF2_HUMAN	sperm flagellar 2	1485					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)			TAGGCATAATAGGAAATAAAG	0.343													G	35792449	A	G	35792449	3	3	364	1	0	0	0	0	1	0	0	0	15131	410	15	3	4598	3	SPEF2	5	35792449	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	101177	35792449	145122811	4328	27830											
IL7R	3575	broad.mit.edu	37	chr5	35873728	35873728	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttattacttcagaacTccagagatcaataatagctc	15	11	5	10	0	2	2	2	0	0	2	4	3	3	2	2	0	3	2	2	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35873728T>A	ENST00000303115.3	+	5	813	c.684T>A	c.(682-684)acT>acA	p.T228T	IL7R_ENST00000506850.1_Silent_p.T228T|IL7R_ENST00000343305.4_Silent_p.T228T	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	228					immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			ACTTCAGAACTCCAGAGATCA	0.423			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						A	35873728	T	A	35873728	2	1	364	1	0	0	0	0	0	0	0	1	7763	1538	54	5		5	IL7R	5	35873728	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	81279	35873728	145041532	4329	27831											
CAPSL	133690	broad.mit.edu	37	chr5	35921134	35921134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggccaggcactgcagtCggagtctttcaatggggtcg	6	9	14	12	2	2	0	1	0	1	0	4	1	2	1	2	5	1	2	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921134C>T	ENST00000397367.2	-	2	215	c.89G>A	c.(88-90)cGa>cAa	p.R30Q	CAPSL_ENST00000514524.1_Missense_Mutation_p.R30Q|CAPSL_ENST00000397366.1_Missense_Mutation_p.R30Q	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	30						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			GCACTGCAGTCGGAGTCTTTC	0.607													T	35921134	C	T	35921134	3	4	364	1	0	0	0	0	1	0	0	0	2665	884	31	1	553	1	CAPSL	5	35921134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47406	35921134	144994126	4330	27832											
CAPSL	133690	broad.mit.edu	37	chr5	35921206	35921206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatctctcggtcatggCgcgctgtccctgccatctga	4	11	10	16	4	3	1	1	1	2	0	7	1	4	1	3	2	1	1	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35921206C>T	ENST00000397367.2	-	2	143	c.17G>A	c.(16-18)cGc>cAc	p.R6H	CAPSL_ENST00000514524.1_Missense_Mutation_p.R6H|CAPSL_ENST00000397366.1_Missense_Mutation_p.R6H	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	6						cytoplasm	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCGGTCATGGCGCGCTGTCCC	0.612													T	35921206	C	T	35921206	3	4	364	1	0	0	0	0	1	0	0	0	2665	768	27	1	625	1	CAPSL	5	35921206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72	35921206	144994054	4331	27833											
UGT3A1	133688	broad.mit.edu	37	chr5	35954517	35954517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgatccagcccaccagccgCtgtgcggggctcaggggctg	5	6	15	15	3	1	0	1	0	0	0	3	1	2	0	4	4	3	3	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954517C>A	ENST00000274278.3	-	7	1716	c.1359G>T	c.(1357-1359)caG>caT	p.Q453H		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	453						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCACCAGCCGCTGTGCGGGGC	0.612													A	35954517	C	A	35954517	3	1	364	1	0	0	0	0	1	0	0	0	17065	796	28	4	216	4	UGT3A1	5	35954517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33311	35954517	144960743	4332	27834											
UGT3A1	133688	broad.mit.edu	37	chr5	35954554	35954554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagagtgcaggatgacaCtggctgccaccactgccgac	9	6	13	13	1	0	2	0	2	0	1	0	5	0	3	3	2	3	3	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35954554C>A	ENST00000274278.3	-	7	1679	c.1322G>T	c.(1321-1323)aGt>aTt	p.S441I		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	441						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGGATGACACTGGCTGCCAC	0.587													A	35954554	C	A	35954554	3	1	364	1	0	0	0	0	1	0	0	0	17065	565	20	4	253	4	UGT3A1	5	35954554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	35954554	144960706	4333	27835											
UGT3A1	133688	broad.mit.edu	37	chr5	35965820	35965820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccaaaatccaaagagcCgaatgtggtgggaagaatgg	15	6	13	7	1	0	2	0	0	0	2	1	4	1	3	3	3	2	0	3	3	7	1	rs141076093		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:35965820C>T	ENST00000274278.3	-	4	868	c.511G>A	c.(511-513)Ggc>Agc	p.G171S	UGT3A1_ENST00000503189.1_Missense_Mutation_p.G171S|UGT3A1_ENST00000507113.1_Missense_Mutation_p.G137S|UGT3A1_ENST00000333811.4_Missense_Mutation_p.G117S|UGT3A1_ENST00000513233.1_Intron	NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	171						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAAGAGCCGAATGTGGTG	0.443													T	35965820	C	T	35965820	3	4	364	1	0	0	0	0	1	0	0	0	17065	652	23	1	1158	1	UGT3A1	5	35965820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11266	35965820	144949440	4334	27836											
LMBRD2	92255	broad.mit.edu	37	chr5	36136434	36136434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catggcatcttccaaattctCttctgcatctgctttctctg	6	17	5	13	0	5	0	0	0	5	0	8	0	6	0	1	1	2	3	1	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36136434C>T	ENST00000296603.4	-	6	1186	c.724G>A	c.(724-726)Gag>Aag	p.E242K		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	242						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCAAATTCTCTTCTGCATCT	0.373													T	36136434	C	T	36136434	3	4	364	1	0	0	0	0	1	0	0	0	8904	922	32	2	1415	2	LMBRD2	5	36136434	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170614	36136434	144778826	4335	27837											
LMBRD2	92255	broad.mit.edu	37	chr5	36137525	36137525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgatcttgcatatgactgCataaaaggtaagagaatcct	14	11	8	8	0	1	3	0	2	1	1	2	4	2	3	2	1	2	3	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36137525C>T	ENST00000296603.4	-	5	849	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	129						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATATGACTGCATAAAAGGTA	0.328													T	36137525	C	T	36137525	3	4	364	1	0	0	0	0	1	0	0	0	8904	710	25	2	1756	2	LMBRD2	5	36137525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091	36137525	144777735	4336	27838											
SKP2	6502	broad.mit.edu	37	chr5	36168426	36168426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgtttagcccttttcgtgTacagcacatggacctatcga	8	13	9	11	3	0	0	0	0	0	0	2	2	0	1	2	1	3	3	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36168426T>C	ENST00000274255.6	+	5	744	c.548T>C	c.(547-549)gTa>gCa	p.V183A	SKP2_ENST00000546211.1_Intron|SKP2_ENST00000508514.1_Intron|SKP2_ENST00000274254.5_Missense_Mutation_p.V183A	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	183					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CCTTTTCGTGTACAGCACATG	0.498													C	36168426	T	C	36168426	3	2	364	1	0	0	0	0	1	0	0	0	14456	1638	57	3	566	3	SKP2	5	36168426	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30901	36168426	144746834	4337	27839											
NIPBL	25836	broad.mit.edu	37	chr5	36976068	36976068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataattagttctccatccaaGgactctactaaacttacatt	14	14	3	10	0	2	0	0	0	2	0	4	1	3	1	2	1	3	1	2	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36976068G>T	ENST00000282516.8	+	9	1558	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.K353N	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	353					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTCCATCCAAGGACTCTACTA	0.368													T	36976068	G	T	36976068	3	4	364	1	0	0	0	0	1	0	0	0	10504	991	35	4	1089	4	NIPBL	5	36976068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	807642	36976068	143939192	4338	27840											
NIPBL	25836	broad.mit.edu	37	chr5	36985354	36985354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacaacaaacaaaataatgGcagatcagaaacaacaaaat	24	5	5	7	0	1	3	1	1	0	2	1	3	1	3	0	1	4	1	0	1	9	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36985354G>A	ENST00000282516.8	+	10	2571	c.2072G>A	c.(2071-2073)gGc>gAc	p.G691D	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.G691D	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	691					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAAAATAATGGCAGATCAGAA	0.408													A	36985354	G	A	36985354	3	1	364	1	0	0	0	0	1	0	0	0	10504	1203	42	2	2106	2	NIPBL	5	36985354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9286	36985354	143929906	4339	27841											
NIPBL	25836	broad.mit.edu	37	chr5	36986241	36986242	+	Frame_Shift_Ins	INS	-	-	A																															agagccgaaagacaaagtagINSaaaaaataggattagttgaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:36986241_36986242insA	ENST00000282516.8	+	10	3458_3459	c.2959_2960insA	c.(2959-2961)gaafs	p.E987fs	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Frame_Shift_Ins_p.E987fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	987					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGACAAAGTAGAAAAAATAGGA	0.337													A	36986242	-	A	36986241	7	5	364	1	0	1	1	0	0	0	0	0	10504	943	33	0	2993	0	NIPBL	5	36986241	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	887	36986241	143929019	4340	27842											
NIPBL	25836	broad.mit.edu	37	chr5	37008826	37008826	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggagtttaaggaacttcagGtaattaattataacagaggt	16	12	10	3	0	1	1	1	0	0	1	1	3	1	3	0	4	2	2	0	4	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37008826G>T	ENST00000282516.8	+	20	4920		c.e20+1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GGAACTTCAGGTAATTAATTA	0.289													T	37008826	G	T	37008826	5	4	364	1	0	0	0	0	0	0	1	0	10504	1275	44	4	4496	4	NIPBL	5	37008826	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22585	37008826	143906434	4341	27843											
NIPBL	25836	broad.mit.edu	37	chr5	37048693	37048693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctgataagaactcctcaGtcaatttaaaaatacaagtg	17	12	5	7	0	3	2	2	1	1	1	4	2	4	2	1	0	2	0	1	0	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37048693G>T	ENST00000282516.8	+	39	7178	c.6679G>T	c.(6679-6681)Gtc>Ttc	p.V2227F	NIPBL_ENST00000448238.2_Missense_Mutation_p.V2227F	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2227					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			GAACTCCTCAGTCAATTTAAA	0.343													T	37048693	G	T	37048693	3	4	364	1	0	0	0	0	1	0	0	0	10504	1029	36	4	6829	4	NIPBL	5	37048693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39867	37048693	143866567	4342	27844											
C5orf42	65250	broad.mit.edu	37	chr5	37120417	37120417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaggtcgatttattaGaaaactgtgaccatgttgat	11	16	8	6	1	0	3	0	2	0	1	2	4	1	3	2	1	1	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37120417G>T	ENST00000274258.7	-	49	9330	c.5743C>A	c.(5743-5745)Cta>Ata	p.L1915I	C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Missense_Mutation_p.L3017I|C5orf42_ENST00000425232.2_Missense_Mutation_p.L3017I			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	3017										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGATTTATTAGAAAACTGTGA	0.368													T	37120417	G	T	37120417	3	4	364	1	0	0	0	0	1	0	0	0	2323	933	33	4	560	4	C5orf42	5	37120417	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71724	37120417	143794843	4343	27845											
C5orf42	65250	broad.mit.edu	37	chr5	37121769	37121769	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagactgagtagggctgggTttgttaggcaatggtttctg	8	13	16	4	0	1	2	0	1	1	1	1	3	1	2	0	4	0	6	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37121769T>C	ENST00000274258.7	-	48	9254	c.5667A>G	c.(5665-5667)aaA>aaG	p.K1889K	C5orf42_ENST00000512288.1_5'UTR|C5orf42_ENST00000508244.1_Silent_p.K2991K|C5orf42_ENST00000425232.2_Silent_p.K2991K			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2991										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TAGGGCTGGGTTTGTTAGGCA	0.463													C	37121769	T	C	37121769	2	2	364	1	0	0	0	0	0	0	0	1	2323	1722	60	3		3	C5orf42	5	37121769	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1352	37121769	143793491	4344	27846											
C5orf42	65250	broad.mit.edu	37	chr5	37148318	37148319	+	Frame_Shift_Ins	INS	-	-	T																															aatggtttttgaagctaatgINStttttttgaattcagggcca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37148318_37148319insT	ENST00000274258.7	-	42	8544_8545	c.4957_4958insA	c.(4957-4959)acafs	p.T1653fs	C5orf42_ENST00000425232.2_Frame_Shift_Ins_p.T2755fs|C5orf42_ENST00000508244.1_Frame_Shift_Ins_p.T2755fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2755										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCTAATGTTTTTTTGAAT	0.371													T	37148319	-	T	37148318	7	5	364	1	0	1	1	0	0	0	0	0	2323	1377	48	0	1373	0	C5orf42	5	37148318	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	26549	37148318	143766942	4345	27847											
C5orf42	65250	broad.mit.edu	37	chr5	37153906	37153906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctatgttttcagcaatgTtctgtattgctagcaactgc	8	17	8	8	0	3	0	1	0	2	0	3	0	3	0	0	0	5	7	0	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37153906T>G	ENST00000274258.7	-	41	8428	c.4841A>C	c.(4840-4842)aAc>aCc	p.N1614T	C5orf42_ENST00000508244.1_Missense_Mutation_p.N2716T|C5orf42_ENST00000425232.2_Missense_Mutation_p.N2716T			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2716										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TTCAGCAATGTTCTGTATTGC	0.423													G	37153906	T	G	37153906	3	3	364	1	0	0	0	0	1	0	0	0	2323	1725	60	5	1494	5	C5orf42	5	37153906	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5588	37153906	143761354	4346	27848											
C5orf42	65250	broad.mit.edu	37	chr5	37169450	37169450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacttaaattgaagcaaagGaaagccatcaccaggactaa	19	6	8	8	0	1	2	1	1	0	1	1	4	1	4	2	2	2	1	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37169450G>A	ENST00000274258.7	-	34	6903	c.3316C>T	c.(3316-3318)Cct>Tct	p.P1106S	C5orf42_ENST00000508244.1_Missense_Mutation_p.P2226S|C5orf42_ENST00000425232.2_Missense_Mutation_p.P2226S			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			TGAAGCAAAGGAAAGCCATCA	0.423													A	37169450	G	A	37169450	3	1	364	1	0	0	0	0	1	0	0	0	2323	1174	41	2	2993	2	C5orf42	5	37169450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15544	37169450	143745810	4347	27849											
C5orf42	65250	broad.mit.edu	37	chr5	37196095	37196095	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagggatcctttcattcGaatctaaaagtaaagaataa	18	10	8	5	1	2	1	1	0	1	1	4	4	3	3	1	2	0	1	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37196095G>A	ENST00000274258.7	-	21	3906	c.319C>T	c.(319-321)Cga>Tga	p.R107*	C5orf42_ENST00000508244.1_Nonsense_Mutation_p.R1226*|C5orf42_ENST00000425232.2_Nonsense_Mutation_p.R1226*			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	1226										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CCTTTCATTCGAATCTAAAAG	0.358													A	37196095	G	A	37196095	4	1	364	1	0	0	0	0	0	1	0	0	2323	1066	37	1	6045	1	C5orf42	5	37196095	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26645	37196095	143719165	4348	27850											
NUP155	9631	broad.mit.edu	37	chr5	37294509	37294509	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcattcattgtctgtattacGaagcccacatcccagttcaa	11	13	5	12	1	4	0	3	0	1	0	5	1	5	0	2	0	2	2	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37294509G>A	ENST00000231498.3	-	33	4055	c.3852C>T	c.(3850-3852)ttC>ttT	p.F1284F	NUP155_ENST00000381843.2_Silent_p.F1225F|NUP155_ENST00000513532.1_Silent_p.F1220F|NUP155_ENST00000502533.1_5'UTR	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1284					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTGTATTACGAAGCCCACAT	0.333													A	37294509	G	A	37294509	2	1	364	1	0	0	0	0	0	0	0	1	10832	1049	37	1		1	NUP155	5	37294509	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98414	37294509	143620751	4349	27851											
NUP155	9631	broad.mit.edu	37	chr5	37324205	37324205	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcagggaacactacttTcaatctgtaaaaatgaaaga	16	10	9	6	0	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37324205T>G	ENST00000231498.3	-	20	2299	c.2096A>C	c.(2095-2097)gAa>gCa	p.E699A	NUP155_ENST00000381843.2_Missense_Mutation_p.E640A|NUP155_ENST00000513532.1_Missense_Mutation_p.E699A	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	699					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AACACTACTTTCAATCTGTAA	0.338													G	37324205	T	G	37324205	3	3	364	1	0	0	0	0	1	0	0	0	10832	1783	62	5	2143	5	NUP155	5	37324205	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29696	37324205	143591055	4350	27852											
NUP155	9631	broad.mit.edu	37	chr5	37350344	37350344	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtttattttcctacatctTtggctaaaccaccctgcttc	7	17	5	12	0	1	0	0	0	1	0	3	0	2	0	3	2	3	3	3	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37350344T>C	ENST00000231498.3	-	7	950	c.747A>G	c.(745-747)caA>caG	p.Q249Q	NUP155_ENST00000381843.2_Silent_p.Q190Q|NUP155_ENST00000513532.1_Silent_p.Q249Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	249					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCCTACATCTTTGGCTAAACC	0.343													C	37350344	T	C	37350344	2	2	364	1	0	0	0	0	0	0	0	1	10832	1838	64	3		3	NUP155	5	37350344	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26139	37350344	143564916	4351	27853											
WDR70	55100	broad.mit.edu	37	chr5	37392110	37392110	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttttcagaagcaagaGaaaaagaggaagaaatgaac	21	7	9	4	0	2	5	1	1	1	4	2	7	2	6	0	1	2	1	0	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37392110G>T	ENST00000265107.4	+	4	340	c.184G>T	c.(184-186)Gaa>Taa	p.E62*	WDR70_ENST00000504564.1_Nonsense_Mutation_p.E62*	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	62										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGAAGCAAGAGAAAAAGAGGA	0.303													T	37392110	G	T	37392110	4	4	364	1	0	0	0	0	0	1	0	0	17423	943	33	4	198	4	WDR70	5	37392110	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41766	37392110	143523150	4352	27854											
WDR70	55100	broad.mit.edu	37	chr5	37396660	37396660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaagaagaggaagaGgaggaagaggaagtaagtat	20	3	18	0	0	0	5	0	0	0	5	0	11	0	10	0	5	0	2	0	5	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37396660G>T	ENST00000265107.4	+	5	636	c.480G>T	c.(478-480)gaG>gaT	p.E160D	WDR70_ENST00000504564.1_Missense_Mutation_p.E160D	NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	160	Glu-rich.									central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			aagaggaagaggaggaagagg	0.373													T	37396660	G	T	37396660	3	4	364	1	0	0	0	0	1	0	0	0	17423	991	35	4	498	4	WDR70	5	37396660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4550	37396660	143518600	4353	27855											
WDR70	55100	broad.mit.edu	37	chr5	37703146	37703146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaacttgttttctttgagcGtaggactttccaaagggtgt	9	15	10	7	1	1	1	0	1	1	0	2	2	2	2	1	2	2	2	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37703146G>A	ENST00000265107.4	+	13	1529	c.1373G>A	c.(1372-1374)cGt>cAt	p.R458H		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	458										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TTCTTTGAGCGTAGGACTTTC	0.423													A	37703146	G	A	37703146	3	1	364	1	0	0	0	0	1	0	0	0	17423	1145	40	1	1423	1	WDR70	5	37703146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	306486	37703146	143212114	4354	27856											
WDR70	55100	broad.mit.edu	37	chr5	37721297	37721297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggattggctaaagtctattaCgaccccaacaagagtcagag	14	8	10	9	1	2	2	1	0	1	2	2	4	2	3	2	2	2	1	2	2	6	4	rs112595440	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:37721297C>T	ENST00000265107.4	+	14	1653	c.1497C>T	c.(1495-1497)taC>taT	p.Y499Y		NM_018034.2	NP_060504.1	Q9NW82	WDR70_HUMAN	WD repeat domain 70	499										central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_lung(31;0.000285)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAGTCTATTACGACCCCAACA	0.468													T	37721297	C	T	37721297	2	4	364	1	0	0	0	0	0	0	0	1	17423	547	19	1		1	WDR70	5	37721297	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18151	37721297	143193963	4355	27857											
EGFLAM	133584	broad.mit.edu	37	chr5	38435283	38435283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagacattttcattggCggagtccccaattatgatga	13	11	8	9	1	1	3	1	2	0	1	2	4	2	4	2	2	1	0	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38435283C>T	ENST00000322350.5	+	16	2557	c.2211C>T	c.(2209-2211)ggC>ggT	p.G737G	EGFLAM_ENST00000397202.2_Silent_p.G103G|EGFLAM_ENST00000354891.3_Silent_p.G737G|EGFLAM_ENST00000336740.6_Silent_p.G503G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	737	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TTTTCATTGGCGGAGTCCCCA	0.423													T	38435283	C	T	38435283	2	4	364	1	0	0	0	0	0	0	0	1	5005	755	27	1		1	EGFLAM	5	38435283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	713986	38435283	142479977	4356	27858											
OSMR	9180	broad.mit.edu	37	chr5	38925354	38925354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaacccggaagaaaaggCattgattgtggacaacctaa	16	7	10	8	1	0	3	0	2	0	1	0	5	0	5	2	3	2	1	2	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38925354C>T	ENST00000274276.3	+	15	2495	c.2093C>T	c.(2092-2094)gCa>gTa	p.A698V		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	698	Fibronectin type-III 4.				cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					GAAGAAAAGGCATTGATTGTG	0.368													T	38925354	C	T	38925354	3	4	364	1	0	0	0	0	1	0	0	0	11368	710	25	2	2185	2	OSMR	5	38925354	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	490071	38925354	141989906	4357	27859											
OSMR	9180	broad.mit.edu	37	chr5	38933358	38933358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaacaagtttgaattatGtgtcccagttggcttcaccc	11	12	9	9	0	1	2	1	1	0	1	2	3	2	2	2	1	1	3	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:38933358G>A	ENST00000274276.3	+	18	3154	c.2752G>A	c.(2752-2754)Gtg>Atg	p.V918M		NM_003999.2	NP_003990.1	Q99650	OSMR_HUMAN	oncostatin M receptor	918					cell proliferation|positive regulation of cell proliferation	oncostatin-M receptor complex	growth factor binding|oncostatin-M receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	46	all_lung(31;0.000365)					TTTGAATTATGTGTCCCAGTT	0.443													A	38933358	G	A	38933358	3	1	364	1	0	0	0	0	1	0	0	0	11368	1377	48	2	2856	2	OSMR	5	38933358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8004	38933358	141981902	4358	27860											
FYB	2533	broad.mit.edu	37	chr5	39126168	39126168	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttttctttctgtcatcTtttccctttaacatcttcaa	8	21	1	11	0	6	0	2	0	4	0	7	0	7	0	1	0	2	0	1	0	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39126168T>C	ENST00000505428.1	-	12	2134	c.1977A>G	c.(1975-1977)aaA>aaG	p.K659K	FYB_ENST00000540520.1_Silent_p.K669K|FYB_ENST00000512982.1_Silent_p.K659K|FYB_ENST00000351578.6_Intron|FYB_ENST00000515010.1_Intron	NM_001465.4	NP_001456.3	O15117	FYB_HUMAN	FYN binding protein	636					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TTCTGTCATCTTTTCCCTTTA	0.408													C	39126168	T	C	39126168	2	2	364	1	0	0	0	0	0	0	0	1	6176	1606	56	3		3	FYB	5	39126168	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	192810	39126168	141789092	4359	27861											
FYB	2533	broad.mit.edu	37	chr5	39202952	39202952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccttggttgttgaataaGttctttcttgcttgtattcc	5	22	7	7	0	2	1	0	1	2	0	4	1	4	1	2	1	1	5	2	1	3	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39202952G>A	ENST00000351578.6	-	2	301	c.111C>T	c.(109-111)aaC>aaT	p.N37N	FYB_ENST00000540520.1_Silent_p.N47N|FYB_ENST00000512982.1_Silent_p.N37N|FYB_ENST00000505428.1_Silent_p.N37N|FYB_ENST00000515010.1_Silent_p.N37N	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	37					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTGAATAAGTTCTTTCTTG	0.507													A	39202952	G	A	39202952	2	1	364	1	0	0	0	0	0	0	0	1	6176	1020	36	2		2	FYB	5	39202952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76784	39202952	141712308	4360	27862											
C9	735	broad.mit.edu	37	chr5	39341683	39341683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattgaaagtcatttccGcagtcatcctcagcatcctc	9	12	6	14	1	3	1	3	1	0	0	7	1	6	1	3	0	2	3	3	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39341683G>A	ENST00000263408.4	-	3	398	c.303C>T	c.(301-303)tgC>tgT	p.C101C	C9_ENST00000509186.1_5'UTR	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	101	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			AGTCATTTCCGCAGTCATCCT	0.448													A	39341683	G	A	39341683	2	1	364	1	0	0	0	0	0	0	0	1	2469	1079	38	1		1	C9	5	39341683	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138731	39341683	141573577	4361	27863											
DAB2	1601	broad.mit.edu	37	chr5	39375182	39375182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatacaggttgagaagaaGccacctaagaagataaaatc	20	6	9	6	0	0	5	0	1	0	5	1	6	0	5	2	1	2	1	2	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39375182G>T	ENST00000545653.1	-	13	2719	c.2189C>A	c.(2188-2190)gCt>gAt	p.A730D	DAB2_ENST00000339788.6_Missense_Mutation_p.A533D|DAB2_ENST00000509337.1_Missense_Mutation_p.A730D|DAB2_ENST00000320816.6_Missense_Mutation_p.A751D	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	751	Required for interaction with MYO6 (By similarity).				cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			TTGAGAAGAAGCCACCTAAGA	0.343													T	39375182	G	T	39375182	3	4	364	1	0	0	0	0	1	0	0	0	4252	971	34	4	64	4	DAB2	5	39375182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33499	39375182	141540078	4362	27864											
DAB2	1601	broad.mit.edu	37	chr5	39383090	39383090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggagtagacgagctactcGaattctctttcttctgatct	8	14	9	10	3	4	2	0	1	4	1	6	5	4	3	0	1	2	2	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:39383090G>A	ENST00000545653.1	-	9	1438	c.908C>T	c.(907-909)tCg>tTg	p.S303L	DAB2_ENST00000339788.6_Intron|DAB2_ENST00000509337.1_Missense_Mutation_p.S303L|DAB2_ENST00000320816.6_Missense_Mutation_p.S324L	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	324				QPD -> HTR (in Ref. 8; AAA93195).	cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding	p.S324*(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			CGAGCTACTCGAATTCTCTTT	0.468													A	39383090	G	A	39383090	3	1	364	1	0	0	0	0	1	0	0	0	4252	1059	37	1	1361	1	DAB2	5	39383090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7908	39383090	141532170	4363	27865											
PTGER4	5734	broad.mit.edu	37	chr5	40681118	40681118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccactcccggggtcaattCgtccgcctccttgagccccg	4	9	10	18	4	1	1	1	1	0	0	6	1	5	1	7	2	1	0	7	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681118C>T	ENST00000302472.3	+	2	1047	c.23C>T	c.(22-24)tCg>tTg	p.S8L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	8					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGGGTCAATTCGTCCGCCTCC	0.627											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40681118	C	T	40681118	3	4	364	1	0	0	0	0	1	0	0	0	12831	893	31	1	25	1	PTGER4	5	40681118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1298028	40681118	140234142	4364	27866											
PTGER4	5734	broad.mit.edu	37	chr5	40681276	40681276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacgctggtatgtgggCtggctgtcaccgacctgttg	5	12	13	11	2	2	0	1	0	1	0	2	1	2	0	2	3	1	5	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40681276C>T	ENST00000302472.3	+	2	1205	c.181C>T	c.(181-183)Ctg>Ttg	p.L61L	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	61					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						GGTATGTGGGCTGGCTGTCAC	0.622											OREG0016588	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40681276	C	T	40681276	2	4	364	1	0	0	0	0	0	0	0	1	12831	796	28	2		2	PTGER4	5	40681276	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158	40681276	140233984	4365	27867											
PRKAA1	5562	broad.mit.edu	37	chr5	40764715	40764715	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcacaggattcttccttcGtacacgcaaataatatgggt	11	13	8	9	2	2	0	1	0	1	0	4	1	3	1	1	2	1	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40764715G>A	ENST00000397128.2	-	8	1344	c.1336C>T	c.(1336-1338)Cga>Tga	p.R446*	PRKAA1_ENST00000354209.3_Nonsense_Mutation_p.R461*	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	446					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TTCTTCCTTCGTACACGCAAA	0.353													A	40764715	G	A	40764715	4	1	364	1	0	0	0	0	0	1	0	0	12579	1153	40	1	351	1	PRKAA1	5	40764715	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83439	40764715	140150545	4366	27868											
PRKAA1	5562	broad.mit.edu	37	chr5	40765006	40765006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcatcaagggtatggcGtgcccttggtgtttcagcaa	9	13	11	8	1	3	0	3	0	0	0	3	0	3	0	1	3	2	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40765006G>A	ENST00000397128.2	-	7	1164	c.1156C>T	c.(1156-1158)Cgc>Tgc	p.R386C	PRKAA1_ENST00000354209.3_Missense_Mutation_p.R401C	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	386					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	AGGGTATGGCGTGCCCTTGGT	0.438													A	40765006	G	A	40765006	3	1	364	1	0	0	0	0	1	0	0	0	12579	1145	40	1	535	1	PRKAA1	5	40765006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291	40765006	140150254	4367	27869											
CARD6	84674	broad.mit.edu	37	chr5	40853382	40853382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaggatatggccgccctgGccagggagctggggattcag	7	7	18	9	1	1	0	1	0	0	0	1	4	1	4	3	7	1	1	3	7	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40853382G>A	ENST00000254691.5	+	3	2147	c.1948G>A	c.(1948-1950)Gcc>Acc	p.A650T	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	650					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GGCCGCCCTGGCCAGGGAGCT	0.517													A	40853382	G	A	40853382	3	1	364	1	0	0	0	0	1	0	0	0	2676	1203	42	2	1958	2	CARD6	5	40853382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88376	40853382	140061878	4368	27870											
C7	730	broad.mit.edu	37	chr5	40964872	40964872	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaatgtttcctgtggggaaAaatgtagtgtacacttgcaa	13	12	10	6	0	0	0	0	0	0	0	1	1	1	1	1	2	2	4	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40964872A>C	ENST00000313164.9	+	14	2138	c.1779A>C	c.(1777-1779)aaA>aaC	p.K593N		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	593	Sushi 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				CTGTGGGGAAAAATGTAGTGT	0.378													C	40964872	A	C	40964872	3	2	364	1	0	0	0	0	1	0	0	0	2399	11	1	5	1833	5	C7	5	40964872	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111490	40964872	139950388	4369	27871											
C7	730	broad.mit.edu	37	chr5	40979852	40979852	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggatgtatgtgctcaaGatgagagaagcaaaaggata	15	9	12	5	0	1	3	1	1	0	2	1	6	1	5	1	2	2	3	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:40979852G>T	ENST00000313164.9	+	17	2550	c.2191G>T	c.(2191-2193)Gat>Tat	p.D731Y	C7_ENST00000494960.1_3'UTR	NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	731	Complement control factor I module 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				ATGTGCTCAAGATGAGAGAAG	0.388													T	40979852	G	T	40979852	3	4	364	1	0	0	0	0	1	0	0	0	2399	942	33	4	2257	4	C7	5	40979852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14980	40979852	139935408	4370	27872											
C6	729	broad.mit.edu	37	chr5	41149403	41149403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattctttctttgtgctgtTggatgaaagtcttgtccttt	5	20	10	6	0	3	1	0	1	3	0	4	3	4	3	1	2	1	2	1	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41149403T>C	ENST00000263413.3	-	17	2827	c.2563A>G	c.(2563-2565)Aac>Gac	p.N855D	C6_ENST00000337836.5_Missense_Mutation_p.N855D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	855	C5b-binding domain.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTTGTGCTGTTGGATGAAAGT	0.413													C	41149403	T	C	41149403	3	2	364	1	0	0	0	0	1	0	0	0	2337	1812	63	3	249	3	C6	5	41149403	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	169551	41149403	139765857	4371	27873											
C6	729	broad.mit.edu	37	chr5	41176734	41176734	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttaagtgctttcaaaaaGacatcagaaaggtgcagatc	15	10	10	6	0	2	3	2	0	0	3	3	3	2	3	0	2	2	3	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41176734G>T	ENST00000263413.3	-	8	1275	c.1011C>A	c.(1009-1011)gtC>gtA	p.V337V	C6_ENST00000337836.5_Silent_p.V337V|C6_ENST00000475349.1_5'UTR	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	337	MACPF.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				CTTTCAAAAAGACATCAGAAA	0.383													T	41176734	G	T	41176734	2	4	364	1	0	0	0	0	0	0	0	1	2337	929	33	4		4	C6	5	41176734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27331	41176734	139738526	4372	27874											
PLCXD3	345557	broad.mit.edu	37	chr5	41381941	41381941	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttacctttctgtgattgTttctctgaggccacttgcca	6	16	7	12	0	2	2	0	2	2	0	3	2	2	2	3	1	2	1	3	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41381941T>G	ENST00000377801.3	-	2	873	c.799A>C	c.(799-801)Aca>Cca	p.T267P	PLCXD3_ENST00000328457.3_Missense_Mutation_p.T267P			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	267					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						TCTGTGATTGTTTCTCTGAGG	0.408													G	41381941	T	G	41381941	3	3	364	1	0	0	0	0	1	0	0	0	12120	1725	60	5	174	5	PLCXD3	5	41381941	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205207	41381941	139533319	4373	27875											
PLCXD3	345557	broad.mit.edu	37	chr5	41382049	41382049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttctctcagtgatggatgCttgaagaaactggatcagtt	10	14	10	7	0	4	3	2	2	2	1	5	5	4	5	0	2	2	2	0	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382049C>A	ENST00000377801.3	-	2	765	c.691G>T	c.(691-693)Gca>Tca	p.A231S	PLCXD3_ENST00000328457.3_Missense_Mutation_p.A231S			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	231					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						GTGATGGATGCTTGAAGAAAC	0.537													A	41382049	C	A	41382049	3	1	364	1	0	0	0	0	1	0	0	0	12120	797	28	4	282	4	PLCXD3	5	41382049	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108	41382049	139533211	4374	27876											
PLCXD3	345557	broad.mit.edu	37	chr5	41382286	41382286	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttttcatggtgatattTctgcatcccataaaagtggt	10	16	8	7	0	2	1	1	1	1	0	3	1	3	1	1	2	1	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41382286T>A	ENST00000377801.3	-	2	528	c.454A>T	c.(454-456)Aaa>Taa	p.K152*	PLCXD3_ENST00000328457.3_Nonsense_Mutation_p.K152*			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	152	PI-PLC X-box.				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						TGGTGATATTTCTGCATCCCA	0.413													A	41382286	T	A	41382286	4	1	364	1	0	0	0	0	0	1	0	0	12120	1792	62	5	519	5	PLCXD3	5	41382286	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	237	41382286	139532974	4375	27877											
OXCT1	5019	broad.mit.edu	37	chr5	41803250	41803250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctggccaggagagggattCctatgcccaaattagctgga	10	9	13	9	0	0	1	0	0	0	1	1	4	1	3	3	4	3	2	3	4	3	3	rs121909301		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41803250C>T	ENST00000196371.5	-	10	1131	c.971G>A	c.(970-972)gGa>gAa	p.G324E	OXCT1_ENST00000509987.1_Missense_Mutation_p.G138E	NM_000436.3	NP_000427.1	P55809	SCOT1_HUMAN	3-oxoacid CoA transferase 1	324			G -> E (in SCOTD).		cellular lipid metabolic process|ketone body catabolic process	mitochondrial matrix	3-oxoacid CoA-transferase activity|protein homodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(2)	28					Succinic acid(DB00139)	GAGAGGGATTCCTATGCCCAA	0.353													T	41803250	C	T	41803250	3	4	364	1	0	0	0	0	1	0	0	0	11405	855	30	2	623	2	OXCT1	5	41803250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	420964	41803250	139112010	4376	27878											
C5orf51	285636	broad.mit.edu	37	chr5	41904531	41904531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcggggatctggctcaggCccacatacagcaacttagcg	9	7	12	13	2	2	0	1	0	1	0	3	1	2	1	1	4	4	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:41904531C>T	ENST00000381647.2	+	1	81	c.62C>T	c.(61-63)gCc>gTc	p.A21V	C5orf51_ENST00000505931.2_Intron	NM_175921.4	NP_787117.3	A6NDU8	CE051_HUMAN	chromosome 5 open reading frame 51	21										endometrium(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTGGCTCAGGCCCACATACAG	0.657													T	41904531	C	T	41904531	3	4	364	1	0	0	0	0	1	0	0	0	2330	739	26	2	64	2	C5orf51	5	41904531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101281	41904531	139010729	4377	27879											
GHR	2690	broad.mit.edu	37	chr5	42695035	42695035	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaacactcaagaatggActcaagaatggaaagaatgc	18	7	10	6	0	2	3	2	0	0	3	2	6	2	6	0	3	2	0	0	3	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42695035A>G	ENST00000230882.4	+	5	473	c.283A>G	c.(283-285)Act>Gct	p.T95A	GHR_ENST00000357703.3_Missense_Mutation_p.T73A|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	95					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	tcaagaatggactcaagaatg	0.353													G	42695035	A	G	42695035	3	3	364	1	0	0	0	0	1	0	0	0	6427	275	10	3	297	3	GHR	5	42695035	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	790504	42695035	138220225	4378	27880											
GHR	2690	broad.mit.edu	37	chr5	42711316	42711316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtcttgaaagatggaccCtatattgacaacatcagttc	12	14	7	8	0	2	3	1	2	1	1	3	4	2	4	1	1	1	1	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42711316C>A	ENST00000230882.4	+	7	816	c.626C>A	c.(625-627)cCt>cAt	p.P209H	GHR_ENST00000357703.3_Missense_Mutation_p.P187H|GHR_ENST00000537449.1_Missense_Mutation_p.P22H	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	209	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	AAGATGGACCCTATATTGACA	0.378													A	42711316	C	A	42711316	3	1	364	1	0	0	0	0	1	0	0	0	6427	681	24	4	648	4	GHR	5	42711316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16281	42711316	138203944	4379	27881											
SEPP1	6414	broad.mit.edu	37	chr5	42801096	42801096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggagccaactctgaatctGtgggcaatttacagagtaat	13	11	10	7	0	2	2	0	1	2	1	2	3	2	3	1	2	3	2	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801096G>A	ENST00000514985.1	-	5	1128	c.872C>T	c.(871-873)aCa>aTa	p.T291I	SEPP1_ENST00000511224.1_Missense_Mutation_p.T291I|SEPP1_ENST00000506577.1_Missense_Mutation_p.T291I|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_3'UTR	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	291					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						CTCTGAATCTGTGGGCAATTT	0.408													A	42801096	G	A	42801096	3	1	364	1	0	0	0	0	1	0	0	0	14150	1377	48	2	277	2	SEPP1	5	42801096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89780	42801096	138114164	4380	27882											
SEPP1	6414	broad.mit.edu	37	chr5	42801186	42801186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcacttgctggcatatctCggttctctgggtgaccctgc	4	14	10	13	1	3	1	1	1	2	0	5	1	3	1	1	3	2	3	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:42801186C>T	ENST00000514985.1	-	5	1038	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	SEPP1_ENST00000511224.1_Missense_Mutation_p.R261Q|SEPP1_ENST00000506577.1_Missense_Mutation_p.R261Q|CCDC152_ENST00000361970.5_3'UTR|SEPP1_ENST00000509276.1_5'UTR|SEPP1_ENST00000507920.1_Missense_Mutation_p.E151K	NM_005410.2	NP_005401.3	P49908	SEPP1_HUMAN	selenoprotein P, plasma, 1	261					response to oxidative stress	extracellular region	selenium binding			kidney(10)|large_intestine(1)|lung(4)	15						TGGCATATCTCGGTTCTCTGG	0.458													T	42801186	C	T	42801186	3	4	364	1	0	0	0	0	1	0	0	0	14150	884	31	1	367	1	SEPP1	5	42801186	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	42801186	138114074	4381	27883											
HMGCS1	3157	broad.mit.edu	37	chr5	43298869	43298869	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacagtcatgcaaagagAgttaatatcttctctatctg	14	12	6	9	0	4	1	1	0	3	1	5	2	4	1	1	0	2	2	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43298869A>T	ENST00000325110.6	-	3	405	c.199T>A	c.(199-201)Tct>Act	p.S67T	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S67T	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	67					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ATGCAAAGAGAGTTAATATCT	0.433													T	43298869	A	T	43298869	3	4	364	1	0	0	0	0	1	0	0	0	7287	304	11	5	1399	5	HMGCS1	5	43298869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	497683	43298869	137616391	4382	27884											
C5orf34	375444	broad.mit.edu	37	chr5	43506021	43506021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagtgctaaagacaaaGgatatttccattcctctgga	15	11	8	7	0	1	2	0	1	1	1	3	4	3	4	2	2	1	1	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43506021G>T	ENST00000306862.2	-	4	1136	c.761C>A	c.(760-762)cCt>cAt	p.P254H	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	254										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TAAAGACAAAGGATATTTCCA	0.398													T	43506021	G	T	43506021	3	4	364	1	0	0	0	0	1	0	0	0	2315	1000	35	4	1195	4	C5orf34	5	43506021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207152	43506021	137409239	4383	27885											
NNT	23530	broad.mit.edu	37	chr5	43609301	43609301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgggaactcatatcaacatgGcaaacctattgaaaacagtg	16	9	8	8	0	2	1	2	1	0	0	2	2	2	2	1	2	4	1	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43609301G>A	ENST00000264663.5	+	2	225	c.4G>A	c.(4-6)Gca>Aca	p.A2T	NNT_ENST00000344920.4_Missense_Mutation_p.A2T|NNT_ENST00000512996.2_Intron	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	2					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	TATCAACATGGCAAACCTATT	0.398													A	43609301	G	A	43609301	3	1	364	1	0	0	0	0	1	0	0	0	10586	1203	42	2	6	2	NNT	5	43609301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103280	43609301	137305959	4384	27886											
NNT	23530	broad.mit.edu	37	chr5	43655960	43655960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggattgacaattgccaaacGcatccagatttctgatttac	13	12	7	9	1	1	3	0	2	1	1	2	4	2	4	2	1	3	1	2	1	3	5	rs139987446		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43655960G>A	ENST00000264663.5	+	15	2299	c.2078G>A	c.(2077-2079)cGc>cAc	p.R693H	NNT_ENST00000344920.4_Missense_Mutation_p.R693H|NNT_ENST00000512996.2_Missense_Mutation_p.R562H	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	693					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATTGCCAAACGCATCCAGATT	0.348													A	43655960	G	A	43655960	3	1	364	1	0	0	0	0	1	0	0	0	10586	1087	38	1	2132	1	NNT	5	43655960	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46659	43655960	137259300	4385	27887											
NNT	23530	broad.mit.edu	37	chr5	43656860	43656860	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccattcatggtggacccaaGctttactactggcatcacct	9	11	7	14	0	2	0	2	0	0	0	2	1	2	1	3	3	3	2	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:43656860G>T	ENST00000264663.5	+	16	2620	c.2399G>T	c.(2398-2400)aGc>aTc	p.S800I	NNT_ENST00000344920.4_Missense_Mutation_p.S800I|NNT_ENST00000512996.2_Missense_Mutation_p.S669I	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	800					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GTGGACCCAAGCTTTACTACT	0.493													T	43656860	G	T	43656860	3	4	364	1	0	0	0	0	1	0	0	0	10586	971	34	4	2457	4	NNT	5	43656860	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	900	43656860	137258400	4386	27888											
FGF10	2255	broad.mit.edu	37	chr5	44305208	44305208	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacatacatttgcctcccAttatgctgccagttaaatga	11	12	6	12	0	0	1	0	1	0	0	1	1	1	1	4	0	4	2	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:44305208A>G	ENST00000264664.4	-	3	630	c.516T>C	c.(514-516)aaT>aaC	p.N172N		NM_004465.1	NP_004456.1	O15520	FGF10_HUMAN	fibroblast growth factor 10	172					actin cytoskeleton reorganization|activation of MAPK activity|bud outgrowth involved in lung branching|ERK1 and ERK2 cascade|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|insulin receptor signaling pathway|lacrimal gland development|lung saccule development|mesonephros development|negative regulation of cell cycle arrest|positive regulation of ATPase activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of DNA repair|positive regulation of DNA replication|positive regulation of epithelial cell migration|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of ERK1 and ERK2 cascade|positive regulation of hair follicle cell proliferation|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of lymphocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of urothelial cell proliferation|protein localization at cell surface|radial glial cell differentiation|regulation of saliva secretion|response to protein stimulus|secretion by lung epithelial cell involved in lung growth|tear secretion|thymus development|urothelial cell proliferation	cell surface|extracellular space|nucleus|plasma membrane	chemoattractant activity|growth factor activity|heparin binding|type 2 fibroblast growth factor receptor binding			haematopoietic_and_lymphoid_tissue(1)|lung(11)|skin(1)	13	Lung NSC(6;1.12e-06)					TTTGCCTCCCATTATGCTGCC	0.408													G	44305208	A	G	44305208	2	3	364	1	0	0	0	0	0	0	0	1	5888	214	8	3		3	FGF10	5	44305208	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	648348	44305208	136610052	4387	27889											
HCN1	348980	broad.mit.edu	37	chr5	45262378	45262378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttggtgttgtgaagcGcctgcgtgctcttgtgcact	4	14	14	9	2	2	1	1	1	1	0	2	1	2	1	1	2	4	4	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:45262378G>A	ENST00000303230.4	-	8	2375	c.2318C>T	c.(2317-2319)gCg>gTg	p.A773V		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	773						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						GTTGTGAAGCGCCTGCGTGCT	0.637													A	45262378	G	A	45262378	3	1	364	1	0	0	0	0	1	0	0	0	7051	1087	38	1	358	1	HCN1	5	45262378	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	957170	45262378	135652882	4388	27890											
PARP8	79668	broad.mit.edu	37	chr5	50123879	50123879	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaactctttggaagcacCtttgcatttcagtgagtaag	14	12	8	7	0	2	1	1	1	1	0	2	2	2	2	1	1	3	3	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50123879C>A	ENST00000281631.5	+	20	2237	c.2079C>A	c.(2077-2079)acC>acA	p.T693T	PARP8_ENST00000505554.1_Silent_p.T672T|PARP8_ENST00000505697.2_Silent_p.T693T|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Silent_p.T404T|PARP8_ENST00000514067.2_Silent_p.T651T|PARP8_ENST00000503750.2_Silent_p.T651T	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	693	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TTGGAAGCACCTTTGCATTTC	0.393													A	50123879	C	A	50123879	2	1	364	1	0	0	0	0	0	0	0	1	11541	668	24	4		4	PARP8	5	50123879	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4861501	50123879	130791381	4389	27891											
PARP8	79668	broad.mit.edu	37	chr5	50125766	50125766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaatctatcttagtcCaatgtcaagcatatcatttg	13	14	7	7	0	4	0	2	0	2	0	5	1	5	1	1	1	1	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50125766C>T	ENST00000281631.5	+	22	2362	c.2204C>T	c.(2203-2205)cCa>cTa	p.P735L	PARP8_ENST00000505554.1_Missense_Mutation_p.P714L|PARP8_ENST00000505697.2_Missense_Mutation_p.P735L|PARP8_ENST00000511363.2_3'UTR|PARP8_ENST00000514342.2_Missense_Mutation_p.P446L|PARP8_ENST00000514067.2_Missense_Mutation_p.P693L|PARP8_ENST00000503750.2_Missense_Mutation_p.P693L	NM_001178056.1|NM_024615.3	NP_001171527.1|NP_078891.2	Q8N3A8	PARP8_HUMAN	poly (ADP-ribose) polymerase family, member 8	735	PARP catalytic.					intracellular	NAD+ ADP-ribosyltransferase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Lung NSC(810;0.0305)|Breast(144;0.222)				TATCTTAGTCCAATGTCAAGC	0.333													T	50125766	C	T	50125766	3	4	364	1	0	0	0	0	1	0	0	0	11541	594	21	2	2290	2	PARP8	5	50125766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1887	50125766	130789494	4390	27892											
ISL1	3670	broad.mit.edu	37	chr5	50680528	50680528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtacatgctttgttaGggatgggaaaacctactgta	11	12	12	6	0	0	0	0	0	0	0	0	3	0	2	1	2	5	5	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:50680528G>T	ENST00000230658.7	+	2	767	c.182G>T	c.(181-183)aGg>aTg	p.R61M	ISL1_ENST00000511384.1_Missense_Mutation_p.R61M	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	61	LIM zinc-binding 1.				generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGCTTTGTTAGGGATGGGAAA	0.403													T	50680528	G	T	50680528	3	4	364	1	0	0	0	0	1	0	0	0	7914	1000	35	4	188	4	ISL1	5	50680528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	554762	50680528	130234732	4391	27893											
ITGA1	3672	broad.mit.edu	37	chr5	52216289	52216289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcactaagcactccttCtacatgttggcaagtaaatc	13	11	7	10	0	1	0	0	0	1	0	3	1	2	0	1	1	3	5	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52216289C>A	ENST00000282588.6	+	17	2741	c.2283C>A	c.(2281-2283)ttC>ttA	p.F761L		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	761					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				AGCACTCCTTCTACATGTTGG	0.348													A	52216289	C	A	52216289	3	1	364	1	0	0	0	0	1	0	0	0	7930	912	32	4	2349	4	ITGA1	5	52216289	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1535761	52216289	128698971	4392	27894											
ITGA1	3672	broad.mit.edu	37	chr5	52227879	52227879	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccgtgtattttctagtgAcagcgaagaacctcctgaaa	11	11	10	9	2	1	3	0	2	1	1	2	4	2	3	3	0	3	1	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52227879A>T	ENST00000282588.6	+	22	3232	c.2774A>T	c.(2773-2775)gAc>gTc	p.D925V		NM_181501.1	NP_852478.1	P56199	ITA1_HUMAN	integrin, alpha 1	925					axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|muscle contraction	integrin complex	collagen binding|receptor activity	p.D925G(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(19)|ovary(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(810;5.05e-05)|Breast(144;0.0851)				TTTTCTAGTGACAGCGAAGAA	0.353													T	52227879	A	T	52227879	3	4	364	1	0	0	0	0	1	0	0	0	7930	275	10	5	2860	5	ITGA1	5	52227879	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11590	52227879	128687381	4393	27895											
ITGA2	3673	broad.mit.edu	37	chr5	52337985	52337985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggctttcctgagaaccgaAtgggagatgtgtataaatgt	11	12	13	5	1	0	2	0	1	0	2	1	5	1	2	2	2	1	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52337985A>G	ENST00000296585.5	+	3	372	c.229A>G	c.(229-231)Atg>Gtg	p.M77V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	77					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAGAACCGAATGGGAGATGT	0.353													G	52337985	A	G	52337985	3	3	364	1	0	0	0	0	1	0	0	0	7933	101	4	3	239	3	ITGA2	5	52337985	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110106	52337985	128577275	4394	27896											
ITGA2	3673	broad.mit.edu	37	chr5	52376351	52376351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctacataggtaacaacagGaagtgttccagtaagcatgg	14	9	10	8	0	1	0	0	0	1	0	2	1	2	1	1	3	4	4	1	3	6	5	rs35513357		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376351G>T	ENST00000296585.5	+	25	3082	c.2939G>T	c.(2938-2940)gGa>gTa	p.G980V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	980					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				GTAACAACAGGAAGTGTTCCA	0.438													T	52376351	G	T	52376351	3	4	364	1	0	0	0	0	1	0	0	0	7933	1174	41	4	3037	4	ITGA2	5	52376351	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38366	52376351	128538909	4395	27897											
ITGA2	3673	broad.mit.edu	37	chr5	52376441	52376441	+	Frame_Shift_Del	DEL	A	A	-																															gatgtacctaactggggtgcAaacagacaaggtaaagatta																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52376441delA	ENST00000296585.5	+	25	3172	c.3029delA	c.(3028-3030)caafs	p.Q1010fs		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1010					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				ACTGGGGTGCAAACAGACAAG	0.378													-	52376441	A	-	52376441	7	5	364	1	0	1	0	1	0	0	0	0	7933	130	5	0	3127	0	ITGA2	5	52376441	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	90	52376441	128538819	4396	27898											
ITGA2	3673	broad.mit.edu	37	chr5	52379220	52379220	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctggttgaaagacgtTcacatgaaaggagaatactt	14	10	10	7	1	1	4	1	2	0	2	1	5	1	4	1	2	2	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52379220T>C	ENST00000296585.5	+	27	3338	c.3195T>C	c.(3193-3195)gtT>gtC	p.V1065V		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	1065					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				TGAAAGACGTTCACATGAAAG	0.358													C	52379220	T	C	52379220	2	2	364	1	0	0	0	0	0	0	0	1	7933	1770	62	3		3	ITGA2	5	52379220	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2779	52379220	128536040	4397	27899											
MOCS2	4338	broad.mit.edu	37	chr5	52397956	52397956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatattgcaccacagagcGgagaaatcaccaactgtgag	14	6	12	9	1	1	3	1	1	0	2	1	5	1	4	2	2	3	1	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397956G>A	ENST00000396954.3	-	4	874	c.197C>T	c.(196-198)cCg>cTg	p.P66L	MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000582677.1_Intron|MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000361377.4_3'UTR	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				ACCACAGAGCGGAGAAATCAC	0.358													A	52397956	G	A	52397956	3	1	364	1	0	0	0	0	1	0	0	0	9767	1116	39	1	385	1	MOCS2	5	52397956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18736	52397956	128517304	4398	27900											
MOCS2	4338	broad.mit.edu	37	chr5	52397989	52397990	+	Frame_Shift_Ins	INS	-	-	A																															ctgtgagacttcatctactgINSaaagtttctcggcagtaaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52397989_52397990insA	ENST00000396954.3	-	4	840_841	c.163_164insT	c.(163-165)tcafs	p.S55fs	MOCS2_ENST00000584946.1_Intron|MOCS2_ENST00000361377.4_3'UTR|MOCS2_ENST00000450852.3_3'UTR|MOCS2_ENST00000510818.2_3'UTR|MOCS2_ENST00000508922.1_3'UTR|MOCS2_ENST00000527216.1_3'UTR|MOCS2_ENST00000582677.1_Intron	NM_004531.3	NP_004522.1	O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	0					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				TTCATCTACTGAAAGTTTCTCG	0.347													A	52397990	-	A	52397989	7	5	364	1	0	1	1	0	0	0	0	0	9767	1294	45	0	418	0	MOCS2	5	52397989	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	33	52397989	128517271	4399	27901											
FST	10468	broad.mit.edu	37	chr5	52779374	52779374	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtggacctgggaaaaaatgCcgaatgaacaagaagaacaa	19	5	11	6	1	0	3	0	1	0	2	0	6	0	5	2	2	3	0	2	2	9	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:52779374C>T	ENST00000396947.3	+	3	484	c.318C>T	c.(316-318)tgC>tgT	p.C106C	FST_ENST00000256759.3_Silent_p.C106C	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	106	Follistatin-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				GGAAAAAATGCCGAATGAACA	0.537													T	52779374	C	T	52779374	2	4	364	1	0	0	0	0	0	0	0	1	6128	747	26	2		2	FST	5	52779374	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	381385	52779374	128135886	4400	27902											
ARL15	54622	broad.mit.edu	37	chr5	53409155	53409155	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcagcttctaaatcatcCtctgaagaggcactgtctaa	12	11	7	11	0	4	2	1	1	3	1	5	2	5	2	1	1	2	3	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:53409155C>A	ENST00000502271.1	-	0	355				ARL15_ENST00000507646.2_Missense_Mutation_p.E113D|ARL15_ENST00000504924.1_Missense_Mutation_p.E113D|ARL15_ENST00000510591.2_5'UTR			Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15								GTP binding			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				CTAAATCATCCTCTGAAGAGG	0.423													A	53409155	C	A	53409155	1	1	364	1	0	0	0	0	0	0	0	0	934	680	24	4		4	ARL15	5	53409155	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	629781	53409155	127506105	4401	27903											
DHX29	54505	broad.mit.edu	37	chr5	54579475	54579475	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcttattttcagaatgctgTtgttgctgctgttgctgctg	4	19	10	8	0	2	1	1	0	1	1	2	1	2	1	0	0	5	8	0	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54579475T>C	ENST00000251636.5	-	11	1669	c.1521A>G	c.(1519-1521)caA>caG	p.Q507Q	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	507							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				CAGAATGCTGTTGTTGCTGCT	0.368													C	54579475	T	C	54579475	2	2	364	1	0	0	0	0	0	0	0	1	4542	1722	60	3		3	DHX29	5	54579475	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1170320	54579475	126335785	4402	27904											
SKIV2L2	23517	broad.mit.edu	37	chr5	54640973	54640973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgcaagtgcttcgagatGcaggtgatttggccaaagga	12	9	13	7	1	0	2	0	1	0	1	1	4	0	3	1	3	3	3	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54640973G>A	ENST00000230640.5	+	10	1311	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.A252T	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	353					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				GCTTCGAGATGCAGGTGATTT	0.353													A	54640973	G	A	54640973	3	1	364	1	0	0	0	0	1	0	0	0	14454	1319	46	2	1095	2	SKIV2L2	5	54640973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61498	54640973	126274287	4403	27905											
PPAP2A	8611	broad.mit.edu	37	chr5	54763817	54763817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagtgaggccgcagtctgCctattgaatacttggcaatg	11	10	12	8	1	1	3	0	2	1	1	1	3	1	3	2	2	2	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763817C>T	ENST00000307259.8	-	3	791	c.371G>A	c.(370-372)gGc>gAc	p.G124D	PPAP2A_ENST00000264775.5_Missense_Mutation_p.G125D|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	124					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				CCGCAGTCTGCCTATTGAATA	0.423													T	54763817	C	T	54763817	3	4	364	1	0	0	0	0	1	0	0	0	12367	739	26	2	499	2	PPAP2A	5	54763817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122844	54763817	126151443	4404	27906											
PPAP2A	8611	broad.mit.edu	37	chr5	54763910	54763910	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaaatagtggctatgtagTtattcctgataaaggaattt	13	16	9	3	0	0	1	0	1	0	0	1	2	1	2	1	2	0	4	1	2	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54763910T>G	ENST00000307259.8	-	3	698	c.278A>C	c.(277-279)aAc>aCc	p.N93T	PPAP2A_ENST00000264775.5_Missense_Mutation_p.N94T|PPAP2A_ENST00000515132.1_5'UTR	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	93					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|androgen receptor signaling pathway|germ cell migration|negative regulation of cell proliferation|phospholipid dephosphorylation|regulation of lipid metabolic process|sphingolipid metabolic process	integral to plasma membrane|membrane fraction	phosphatidate phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				GGCTATGTAGTTATTCCTGAT	0.368													G	54763910	T	G	54763910	3	3	364	1	0	0	0	0	1	0	0	0	12367	1725	60	5	592	5	PPAP2A	5	54763910	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	93	54763910	126151350	4405	27907											
SLC38A9	153129	broad.mit.edu	37	chr5	54929684	54929684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaacagcaggaatatccttGcaatgaaggacagggtgtca	14	7	13	7	0	1	1	1	1	0	0	2	4	2	4	1	4	3	2	1	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:54929684G>A	ENST00000396865.2	-	14	1919	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SLC38A9_ENST00000318672.3_Missense_Mutation_p.A443V|SLC38A9_ENST00000515629.1_Missense_Mutation_p.A380V|SLC38A9_ENST00000539768.1_3'UTR|SLC38A9_ENST00000512595.1_Missense_Mutation_p.A380V|SLC38A9_ENST00000416547.2_Missense_Mutation_p.A319V	NM_173514.3	NP_775785.2	Q8NBW4	S38A9_HUMAN	solute carrier family 38, member 9	443					amino acid transport|sodium ion transport	integral to membrane				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	8		Lung NSC(810;0.00122)|Prostate(74;0.0376)|Breast(144;0.181)				GAATATCCTTGCAATGAAGGA	0.413													A	54929684	G	A	54929684	3	1	364	1	0	0	0	0	1	0	0	0	14705	1319	46	2	369	2	SLC38A9	5	54929684	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165774	54929684	125985576	4406	27908											
DDX4	54514	broad.mit.edu	37	chr5	55075867	55075867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtagtttccgaggttgccGtggaggatttggtctaggaa	8	12	16	5	2	1	0	0	0	1	0	2	4	2	3	2	6	1	3	2	6	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55075867G>A	ENST00000505374.1	+	8	562	c.470G>A	c.(469-471)cGt>cAt	p.R157H	DDX4_ENST00000514278.2_Missense_Mutation_p.R137H|DDX4_ENST00000353507.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000354991.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	157	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				CGAGGTTGCCGTGGAGGATTT	0.373													A	55075867	G	A	55075867	3	1	364	1	0	0	0	0	1	0	0	0	4394	1145	40	1	537	1	DDX4	5	55075867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146183	55075867	125839393	4407	27909											
DDX4	54514	broad.mit.edu	37	chr5	55086459	55086459	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagctgggacattcaattCgacaaatagtacaaggctgt	13	9	9	10	1	1	0	1	0	0	0	2	2	1	1	1	2	2	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55086459C>T	ENST00000505374.1	+	16	1320	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	DDX4_ENST00000514278.2_Nonsense_Mutation_p.R390*|DDX4_ENST00000353507.5_Nonsense_Mutation_p.R376*|DDX4_ENST00000511853.1_Nonsense_Mutation_p.R261*|DDX4_ENST00000354991.5_Nonsense_Mutation_p.R376*	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	410	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ACATTCAATTCGACAAATAGT	0.343													T	55086459	C	T	55086459	4	4	364	1	0	0	0	0	0	1	0	0	4394	876	31	1	1327	1	DDX4	5	55086459	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10592	55086459	125828801	4408	27910											
IL31RA	133396	broad.mit.edu	37	chr5	55206493	55206493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcataaatttcaagacattGtcattcagtgagtatttcct	13	15	6	7	0	3	2	3	1	0	1	4	2	4	2	1	0	1	2	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55206493G>A	ENST00000396834.1	+	14	2074	c.1578G>A	c.(1576-1578)ttG>ttA	p.L526L	IL31RA_ENST00000359040.5_Silent_p.L545L|IL31RA_ENST00000354961.4_Silent_p.L526L|IL31RA_ENST00000490985.1_Silent_p.L403L|IL31RA_ENST00000447346.2_Silent_p.L545L	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	513					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TCAAGACATTGTCATTCAGTG	0.478													A	55206493	G	A	55206493	2	1	364	1	0	0	0	0	0	0	0	1	7749	1368	48	2		2	IL31RA	5	55206493	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120034	55206493	125708767	4409	27911											
IL31RA	133396	broad.mit.edu	37	chr5	55212718	55212718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggaaaagttttgaggagCtcccagtttcacctgagatt	10	12	12	7	0	1	2	1	2	0	1	2	5	2	4	2	3	1	3	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55212718C>A	ENST00000447346.2	+	15	2130	c.2065C>A	c.(2065-2067)Ctc>Atc	p.L689I	IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000354961.4_Intron|IL31RA_ENST00000490985.1_Missense_Mutation_p.L547I	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	657					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				TTTTGAGGAGCTCCCAGTTTC	0.527													A	55212718	C	A	55212718	3	1	364	1	0	0	0	0	1	0	0	0	7749	797	28	4	2123	4	IL31RA	5	55212718	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6225	55212718	125702542	4410	27912											
IL6ST	3572	broad.mit.edu	37	chr5	55265611	55265611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctttagcacacaaactGcagtgaaattagaatgaagt	15	12	7	7	0	0	3	0	2	0	1	1	3	1	3	1	0	3	2	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:55265611G>A	ENST00000381298.2	-	4	449	c.137C>T	c.(136-138)gCa>gTa	p.A46V	IL6ST_ENST00000502326.3_Missense_Mutation_p.A46V|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000577363.1_Intron|IL6ST_ENST00000381293.2_Missense_Mutation_p.A46V|IL6ST_ENST00000522633.2_Missense_Mutation_p.A46V|IL6ST_ENST00000381287.4_Missense_Mutation_p.A46V|IL6ST_ENST00000396816.1_Intron|IL6ST_ENST00000536319.1_Missense_Mutation_p.A46V|IL6ST_ENST00000336909.5_Missense_Mutation_p.A46V|IL6ST_ENST00000381294.3_Missense_Mutation_p.A46V	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	46	Ig-like C2-type.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CACACAAACTGCAGTGAAATT	0.308			O		hepatocellular ca								A	55265611	G	A	55265611	3	1	364	1	0	0	0	0	1	0	0	0	7761	1319	46	2	2675	2	IL6ST	5	55265611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52893	55265611	125649649	4411	27913											
MAP3K1	4214	broad.mit.edu	37	chr5	56160646	56160646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaggaaacaaaccgccGtgttaacaaagtgatgcggg	13	6	12	10	3	0	2	0	2	0	0	0	3	0	3	3	2	4	1	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:56160646G>A	ENST00000399503.3	+	4	920	c.920G>A	c.(919-921)cGt>cAt	p.R307H		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	307					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ACAAACCGCCGTGTTAACAAA	0.498													A	56160646	G	A	56160646	3	1	364	1	0	0	0	0	1	0	0	0	9318	1145	40	1	934	1	MAP3K1	5	56160646	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	895035	56160646	124754614	4412	27914											
PLK2	10769	broad.mit.edu	37	chr5	57750455	57750456	+	Frame_Shift_Ins	INS	-	-	T																															tcagggcatattccattcgaINSttttttaattctgatgaaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57750455_57750456insT	ENST00000274289.3	-	14	2312_2313	c.2012_2013insA	c.(2011-2013)aatfs	p.N671fs	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	671	POLO box 2.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		ATTCCATTCGATTTTTTAATTC	0.401													T	57750456	-	T	57750455	7	5	364	1	0	1	1	0	0	0	0	0	12173	330	12	0	48	0	PLK2	5	57750455	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1589809	57750455	123164805	4413	27915											
PLK2	10769	broad.mit.edu	37	chr5	57751143	57751143	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctccatgtaatgagaaAagtatttcagcaccgtcact	12	12	6	11	1	3	1	2	1	1	1	5	2	4	1	3	0	1	3	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751143A>C	ENST00000274289.3	-	12	2024	c.1724T>G	c.(1723-1725)tTt>tGt	p.F575C	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	575					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		GTAATGAGAAAAGTATTTCAG	0.438													C	57751143	A	C	57751143	3	2	364	1	0	0	0	0	1	0	0	0	12173	14	1	5	345	5	PLK2	5	57751143	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	688	57751143	123164117	4414	27916											
PLK2	10769	broad.mit.edu	37	chr5	57751594	57751594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaacacttcccatggtaCtgtcttcaaggcctgaaaag	11	10	8	12	0	2	1	1	1	1	0	3	1	3	1	2	2	3	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751594C>A	ENST00000274289.3	-	11	1697	c.1397G>T	c.(1396-1398)aGt>aTt	p.S466I	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	466					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		TCCCATGGTACTGTCTTCAAG	0.438													A	57751594	C	A	57751594	3	1	364	1	0	0	0	0	1	0	0	0	12173	565	20	4	676	4	PLK2	5	57751594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451	57751594	123163666	4415	27917											
PLK2	10769	broad.mit.edu	37	chr5	57751887	57751887	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagctgccaagagtcccTctgactatcatccgaatagc	11	9	7	14	1	2	2	1	1	1	1	4	3	4	2	3	0	4	1	3	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57751887T>C	ENST00000274289.3	-	10	1650	c.1350A>G	c.(1348-1350)agA>agG	p.R450R	PLK2_ENST00000502671.1_Intron	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	450					positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CAAGAGTCCCTCTGACTATCA	0.453													C	57751887	T	C	57751887	2	2	364	1	0	0	0	0	0	0	0	1	12173	1548	54	3		3	PLK2	5	57751887	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	293	57751887	123163373	4416	27918											
PLK2	10769	broad.mit.edu	37	chr5	57754828	57754828	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaccttttccctttgatgaGgtttagctactctgctgtga	6	16	9	10	0	1	3	0	3	1	0	2	3	2	3	2	1	3	4	2	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57754828G>T	ENST00000274289.3	-	2	662	c.362C>A	c.(361-363)cCt>cAt	p.P121H		NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2	121	Protein kinase.				positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CCTTTGATGAGGTTTAGCTAC	0.408													T	57754828	G	T	57754828	3	4	364	1	0	0	0	0	1	0	0	0	12173	1000	35	4	1747	4	PLK2	5	57754828	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2941	57754828	123160432	4417	27919											
GAPT	202309	broad.mit.edu	37	chr5	57790694	57790694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaaaaaccgataaggaaCtatatgaaaacacagggcag	21	4	10	6	1	0	1	0	1	0	0	0	4	0	3	1	3	3	1	1	3	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:57790694C>T	ENST00000396776.2	+	3	793	c.331C>T	c.(331-333)Cta>Tta	p.L111L	GAPT_ENST00000318469.2_Silent_p.L111L	NM_152687.2	NP_689900.1	Q8N292	GAPT_HUMAN	GRB2-binding adaptor protein, transmembrane	111					B cell activation	integral to membrane|plasma membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7						CGATAAGGAACTATATGAAAA	0.418													T	57790694	C	T	57790694	2	4	364	1	0	0	0	0	0	0	0	1	6292	564	20	2		2	GAPT	5	57790694	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35866	57790694	123124566	4418	27920											
PDE4D	5144	broad.mit.edu	37	chr5	58270808	58270808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgctctggtaccattcacGattgtcctccaaagtgtcca	8	13	8	12	1	2	0	1	0	1	0	5	1	5	0	4	1	2	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58270808G>A	ENST00000340635.6	-	15	2288	c.2113C>T	c.(2113-2115)Cgt>Tgt	p.R705C	PDE4D_ENST00000360047.5_Missense_Mutation_p.R569C|PDE4D_ENST00000546160.1_Missense_Mutation_p.R644C|PDE4D_ENST00000405755.2_Missense_Mutation_p.R583C|PDE4D_ENST00000358923.6_Missense_Mutation_p.R403C|PDE4D_ENST00000317118.8_Missense_Mutation_p.R414C|PDE4D_ENST00000503258.1_Missense_Mutation_p.R575C|PDE4D_ENST00000502484.2_Missense_Mutation_p.R644C|PDE4D_ENST00000507116.1_Missense_Mutation_p.R641C	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	705					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TACCATTCACGATTGTCCTCC	0.537													A	58270808	G	A	58270808	3	1	364	1	0	0	0	0	1	0	0	0	11718	1058	37	1	320	1	PDE4D	5	58270808	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480114	58270808	122644452	4419	27921											
PDE4D	5144	broad.mit.edu	37	chr5	58271516	58271516	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacggaagcattgtgcttgtCacacatggggcttatctcca	9	11	10	11	1	2	0	1	0	1	0	3	1	2	1	1	3	2	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:58271516C>T	ENST00000340635.6	-	14	2156	c.1981G>A	c.(1981-1983)Gac>Aac	p.D661N	PDE4D_ENST00000360047.5_Missense_Mutation_p.D525N|PDE4D_ENST00000546160.1_Missense_Mutation_p.D600N|PDE4D_ENST00000405755.2_Missense_Mutation_p.D539N|PDE4D_ENST00000358923.6_Missense_Mutation_p.D359N|PDE4D_ENST00000317118.8_Missense_Mutation_p.D370N|PDE4D_ENST00000503258.1_Missense_Mutation_p.D531N|PDE4D_ENST00000502484.2_Missense_Mutation_p.D600N|PDE4D_ENST00000507116.1_Missense_Mutation_p.D597N	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	661					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TTGTGCTTGTCACACATGGGG	0.493													T	58271516	C	T	58271516	3	4	364	1	0	0	0	0	1	0	0	0	11718	826	29	2	456	2	PDE4D	5	58271516	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	708	58271516	122643744	4420	27922											
PDE4D	5144	broad.mit.edu	37	chr5	59064130	59064130	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctgctgagaagcattCtgcgcagaagcctgggggaa	9	9	15	8	1	1	2	0	1	1	2	1	4	1	3	1	2	5	5	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064130C>A	ENST00000507116.1	-	1	341	c.206G>T	c.(205-207)aGa>aTa	p.R69I	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.R69I|PDE4D_ENST00000502484.2_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	GAGAAGCATTCTGCGCAGAAG	0.537													A	59064130	C	A	59064130	3	1	364	1	0	0	0	0	1	0	0	0	11718	928	32	4		4	PDE4D	5	59064130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	792614	59064130	121851130	4421	27923											
PDE4D	5144	broad.mit.edu	37	chr5	59064151	59064151	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcgcagaagcctgggggaaTttctcggagagatcactgga	10	8	15	8	2	2	2	1	0	1	2	3	6	2	5	1	4	2	1	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59064151T>G	ENST00000507116.1	-	1	320	c.185A>C	c.(184-186)aAt>aCt	p.N62T	PDE4D_ENST00000340635.6_Intron|PDE4D_ENST00000546160.1_Intron|PDE4D_ENST00000502575.1_Missense_Mutation_p.N62T|PDE4D_ENST00000502484.2_Intron	NM_001197218.1	NP_001184147.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	CCTGGGGGAATTTCTCGGAGA	0.527													G	59064151	T	G	59064151	3	3	364	1	0	0	0	0	1	0	0	0	11718	1508	52	5		5	PDE4D	5	59064151	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21	59064151	121851109	4422	27924											
DEPDC1B	55789	broad.mit.edu	37	chr5	59893604	59893604	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcgaaaacttctagttctTtgaaatggttggaaaggctt	12	15	9	5	1	2	1	0	1	2	0	3	3	2	2	0	3	1	3	0	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:59893604T>A	ENST00000265036.5	-	11	1633	c.1566A>T	c.(1564-1566)caA>caT	p.Q522H	DEPDC1B_ENST00000453022.2_Missense_Mutation_p.Q460H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.Q433H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	522					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				TTCTAGTTCTTTGAAATGGTT	0.418													A	59893604	T	A	59893604	3	1	364	1	0	0	0	0	1	0	0	0	4479	1838	64	5	27	5	DEPDC1B	5	59893604	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	829453	59893604	121021656	4423	27925											
ELOVL7	79993	broad.mit.edu	37	chr5	60053414	60053414	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgcagaaagtccatagtaGgaatacatgactacatgtac	17	9	8	7	0	0	2	0	1	0	1	1	3	1	3	1	1	4	3	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:60053414G>T	ENST00000505959.1	-	10	1045	c.519C>A	c.(517-519)tcC>tcA	p.S173S	ELOVL7_ENST00000425382.1_Silent_p.S186S|ELOVL7_ENST00000438340.1_Silent_p.S186S|ELOVL7_ENST00000508821.1_Silent_p.S186S			A1L3X0	ELOV7_HUMAN	ELOVL fatty acid elongase 7	186					fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	9		Lung NSC(810;2.56e-06)|Prostate(74;0.0115)|Breast(144;0.0244)|Ovarian(174;0.0481)				GTCCATAGTAGGAATACATGA	0.373													T	60053414	G	T	60053414	2	4	364	1	0	0	0	0	0	0	0	1	5120	987	35	4		4	ELOVL7	5	60053414	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159810	60053414	120861846	4424	27926											
HTR1A	3350	broad.mit.edu	37	chr5	63256975	63256975	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatagtgtagccatgatccTtgctaatggtgcatgcgtcg	9	12	12	8	2	0	2	0	1	0	1	2	2	1	2	2	1	4	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:63256975T>G	ENST00000323865.3	-	1	805	c.572A>C	c.(571-573)aAg>aCg	p.K191T	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	191					behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	GCCATGATCCTTGCTAATGGT	0.572													G	63256975	T	G	63256975	3	3	364	1	0	0	0	0	1	0	0	0	7494	1609	56	5	699	5	HTR1A	5	63256975	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3203561	63256975	117658285	4425	27927											
ADAMTS6	11174	broad.mit.edu	37	chr5	64748588	64748588	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgcggccatggtagccCaccatcattttgtctgccac	6	13	8	14	1	3	0	1	0	2	0	3	0	3	0	4	2	3	1	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64748588C>A	ENST00000536360.1	-	5	1602	c.789G>T	c.(787-789)gtG>gtT	p.V263V				Q9UKP5	ATS6_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 6	263	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|pancreas(1)|prostate(1)|skin(3)	18		Lung NSC(167;2.44e-06)|Prostate(74;0.014)|Ovarian(174;0.0549)|Breast(144;0.111)|Colorectal(97;0.235)		Lung(70;0.00942)		CATGGTAGCCCACCATCATTT	0.383													A	64748588	C	A	64748588	2	1	364	1	0	0	0	0	0	0	0	1	270	581	21	4		4	ADAMTS6	5	64748588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1491613	64748588	116166672	4426	27928											
TRIM23	373	broad.mit.edu	37	chr5	64887632	64887632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actccagcagctacaagttgCcgtgagagccagtccaaccc	11	6	9	15	1	0	1	0	1	0	1	2	2	2	1	5	0	6	3	5	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:64887632C>T	ENST00000231524.9	-	11	2060	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	TRIM23_ENST00000274327.7_Intron|TRIM23_ENST00000381018.3_Intron	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	563	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		CTACAAGTTGCCGTGAGAGCC	0.428													T	64887632	C	T	64887632	2	4	364	1	0	0	0	0	0	0	0	1	16598	726	26	2		2	TRIM23	5	64887632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139044	64887632	116027628	4427	27929											
ERBB2IP	55914	broad.mit.edu	37	chr5	65349795	65349795	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattggagggctaaaaatCtatgatattcttagtgataa	15	13	10	3	0	2	3	0	2	2	1	2	5	2	4	0	2	0	1	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:65349795C>A	ENST00000284037.5	+	21	3038	c.2649C>A	c.(2647-2649)atC>atA	p.I883I	ERBB2IP_ENST00000511297.1_Silent_p.I879I|ERBB2IP_ENST00000380936.1_Silent_p.I883I|ERBB2IP_ENST00000380943.2_Silent_p.I883I|ERBB2IP_ENST00000380935.1_Silent_p.I883I|ERBB2IP_ENST00000380938.2_Silent_p.I883I|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380939.2_Silent_p.I883I|ERBB2IP_ENST00000508515.1_Silent_p.I883I|ERBB2IP_ENST00000506030.1_Silent_p.I883I	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	883					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GGCTAAAAATCTATGATATTC	0.403													A	65349795	C	A	65349795	2	1	364	1	0	0	0	0	0	0	0	1	5248	903	32	4		4	ERBB2IP	5	65349795	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	462163	65349795	115565465	4428	27930											
MAST4	375449	broad.mit.edu	37	chr5	66426196	66426196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgttgtcagcatgtattGctcctttgaaacaaggcgcc	8	14	9	10	1	1	1	1	1	0	0	2	1	2	1	2	1	3	4	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66426196G>T	ENST00000404260.3	+	15	2221	c.1913G>T	c.(1912-1914)tGc>tTc	p.C638F	MAST4_ENST00000405643.1_Missense_Mutation_p.C456F|MAST4_ENST00000261569.7_Missense_Mutation_p.C441F|MAST4_ENST00000403625.2_Missense_Mutation_p.C635F|MAST4_ENST00000403666.1_Missense_Mutation_p.C446F			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	638	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCATGTATTGCTCCTTTGAA	0.468													T	66426196	G	T	66426196	3	4	364	1	0	0	0	0	1	0	0	0	9402	1319	46	4	2092	4	MAST4	5	66426196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1076401	66426196	114489064	4429	27931											
MAST4	375449	broad.mit.edu	37	chr5	66430419	66430419	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttatggaaagccggtggaCtggtgggccatggggattat	8	10	18	5	1	0	0	0	0	0	0	0	3	0	3	2	8	1	1	2	8	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66430419C>T	ENST00000404260.3	+	18	2612	c.2304C>T	c.(2302-2304)gaC>gaT	p.D768D	MAST4_ENST00000405643.1_Silent_p.D586D|MAST4_ENST00000261569.7_Silent_p.D571D|MAST4_ENST00000403625.2_Silent_p.D765D|MAST4_ENST00000403666.1_Silent_p.D576D			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	768	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCCGGTGGACTGGTGGGCCA	0.453													T	66430419	C	T	66430419	2	4	364	1	0	0	0	0	0	0	0	1	9402	564	20	2		2	MAST4	5	66430419	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4223	66430419	114484841	4430	27932											
MAST4	375449	broad.mit.edu	37	chr5	66459617	66459617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgaaggccaaggtggTggtgaagaaagcagacggct	13	5	16	7	1	0	4	0	2	0	2	0	4	0	4	1	5	2	3	1	5	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66459617T>C	ENST00000404260.3	+	29	4927	c.4619T>C	c.(4618-4620)gTg>gCg	p.V1540A	MAST4_ENST00000405643.1_Missense_Mutation_p.V1358A|MAST4_ENST00000261569.7_Missense_Mutation_p.V1343A|MAST4_ENST00000403625.2_Missense_Mutation_p.V1537A|MAST4_ENST00000403666.1_Missense_Mutation_p.V1348A			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1540						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GCCAAGGTGGTGGTGAAGAAA	0.572													C	66459617	T	C	66459617	3	2	364	1	0	0	0	0	1	0	0	0	9402	1696	59	3	4854	3	MAST4	5	66459617	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29198	66459617	114455643	4431	27933											
CD180	4064	broad.mit.edu	37	chr5	66478853	66478853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatggcgggtttgcacaCgtggtctcctccgagccttc	6	10	13	12	3	1	1	0	0	1	1	4	3	2	1	3	3	2	2	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66478853C>T	ENST00000256447.4	-	3	1975	c.1818G>A	c.(1816-1818)acG>acA	p.T606T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	606	LRRCT.				inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		GGTTTGCACACGTGGTCTCCT	0.428													T	66478853	C	T	66478853	2	4	364	1	0	0	0	0	0	0	0	1	3002	523	19	1		1	CD180	5	66478853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19236	66478853	114436407	4432	27934											
CD180	4064	broad.mit.edu	37	chr5	66480139	66480139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcattattctgaaaatccaGtactttcagattccgtgctg	11	14	7	9	1	2	2	1	1	1	1	4	2	4	2	2	0	3	3	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66480139G>T	ENST00000256447.4	-	3	689	c.532C>A	c.(532-534)Ctg>Atg	p.L178M		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	178					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGAAAATCCAGTACTTTCAGA	0.418													T	66480139	G	T	66480139	3	4	364	1	0	0	0	0	1	0	0	0	3002	1020	36	4	1457	4	CD180	5	66480139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1286	66480139	114435121	4433	27935											
CD180	4064	broad.mit.edu	37	chr5	66481846	66481846	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttttgttggcttctttCtgatgggagaaacaaagtaa	11	16	10	4	0	2	2	0	1	2	1	2	3	2	2	0	2	1	4	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:66481846C>A	ENST00000256447.4	-	2	248		c.e2-1			NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule						inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		TGGCTTCTTTctgatgggaga	0.313													A	66481846	C	A	66481846	5	1	364	1	0	0	0	0	0	0	1	0	3002	927	32	4	1903	4	CD180	5	66481846	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1707	66481846	114433414	4434	27936											
PIK3R1	5295	broad.mit.edu	37	chr5	67592152	67592152	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagcagtaaacagggctgCtatgcctgctctgtagtgta	10	10	13	8	0	1	1	0	0	1	1	1	2	1	1	1	1	5	7	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:67592152C>A	ENST00000521381.1	+	15	2584	c.1968C>A	c.(1966-1968)tgC>tgA	p.C656*	PIK3R1_ENST00000396611.1_Nonsense_Mutation_p.C664*|PIK3R1_ENST00000336483.5_Nonsense_Mutation_p.C386*|PIK3R1_ENST00000320694.8_Nonsense_Mutation_p.C356*|PIK3R1_ENST00000521657.1_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000274335.5_Nonsense_Mutation_p.C656*|PIK3R1_ENST00000523872.1_Nonsense_Mutation_p.C293*	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	656	SH2 2.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AACAGGGCTGCTATGCCTGCT	0.438			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67592152	C	A	67592152	4	1	364	1	0	0	0	0	0	1	0	0	11995	805	28	4	2152	4	PIK3R1	5	67592152	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110306	67592152	113323108	4435	27937											
SLC30A5	64924	broad.mit.edu	37	chr5	68408995	68408995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcttttttcattattgCtgtgatctgtttattgcttt	5	23	7	6	0	2	1	1	1	1	0	2	1	2	1	0	0	4	5	0	0	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68408995C>A	ENST00000396591.3	+	6	1086	c.476C>A	c.(475-477)gCt>gAt	p.A159D	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	159					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCATTATTGCTGTGATCTGT	0.348													A	68408995	C	A	68408995	3	1	364	1	0	0	0	0	1	0	0	0	14652	797	28	4	586	4	SLC30A5	5	68408995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	816843	68408995	112506265	4436	27938											
SLC30A5	64924	broad.mit.edu	37	chr5	68412312	68412312	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacctctttataacttcatGggtgatgcttttcagcatag	10	15	7	9	0	3	1	2	1	1	0	3	1	3	1	1	1	3	2	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68412312G>T	ENST00000396591.3	+	10	1774	c.1164G>T	c.(1162-1164)atG>atT	p.M388I	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	388					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		ATAACTTCATGGGTGATGCTT	0.388													T	68412312	G	T	68412312	3	4	364	1	0	0	0	0	1	0	0	0	14652	1348	47	4	1290	4	SLC30A5	5	68412312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3317	68412312	112502948	4437	27939											
SLC30A5	64924	broad.mit.edu	37	chr5	68417568	68417568	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttattggtatctgtgcCtttagccatgcccatagcca	9	13	7	12	0	1	0	0	0	1	0	1	0	1	0	5	1	5	1	5	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68417568C>A	ENST00000396591.3	+	13	2227	c.1617C>A	c.(1615-1617)gcC>gcA	p.A539A	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	539					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GTATCTGTGCCTTtagccatg	0.428													A	68417568	C	A	68417568	2	1	364	1	0	0	0	0	0	0	0	1	14652	668	24	4		4	SLC30A5	5	68417568	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5256	68417568	112497692	4438	27940											
CENPH	64946	broad.mit.edu	37	chr5	68490518	68490518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatgcaagaaaagcaaatcGaagcgtatgttatatttaaa	18	12	7	4	2	0	1	0	0	0	1	1	2	0	1	0	0	3	4	0	0	11	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68490518G>A	ENST00000283006.2	+	3	322	c.235G>A	c.(235-237)Gaa>Aaa	p.E79K	CENPH_ENST00000515001.1_Missense_Mutation_p.E79K	NM_022909.3	NP_075060.1	Q9H3R5	CENPH_HUMAN	centromere protein H	79					cell division|CenH3-containing nucleosome assembly at centromere|chromosome segregation|kinetochore organization|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm	kinetochore binding|protein binding			kidney(15)|large_intestine(2)|lung(3)	20		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.41e-56)|Epithelial(20;1.29e-52)|all cancers(19;3.15e-48)|Lung(70;0.0178)		AAAGCAAATCGAAGCGTATGT	0.279													A	68490518	G	A	68490518	3	1	364	1	0	0	0	0	1	0	0	0	3262	1059	37	1	245	1	CENPH	5	68490518	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72950	68490518	112424742	4439	27941											
CDK7	1022	broad.mit.edu	37	chr5	68550442	68550442	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatataggtataaatagaacCgccttaagagagataaaatt	19	11	7	4	1	0	3	0	0	0	3	0	4	0	3	2	1	1	1	2	1	11	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68550442C>T	ENST00000256443.3	+	4	277	c.174C>T	c.(172-174)acC>acT	p.T58T	CDK7_ENST00000513629.1_3'UTR|CDK7_ENST00000502604.1_5'UTR|CDK7_ENST00000514676.1_Silent_p.T58T	NM_001799.3	NP_001790.1	P50613	CDK7_HUMAN	cyclin-dependent kinase 7	58	Protein kinase.				androgen receptor signaling pathway|cell division|cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex|mitochondrion	androgen receptor binding|ATP binding|cyclin-dependent protein kinase activity|DNA-dependent ATPase activity|protein C-terminus binding|RNA polymerase II carboxy-terminal domain kinase activity|transcription coactivator activity			endometrium(1)|lung(2)	3		Lung NSC(167;7.26e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.98e-56)|Epithelial(20;3.54e-52)|all cancers(19;9.11e-48)|Lung(70;0.0185)		TAAATAGAACCGCCTTAAGAG	0.308								Nucleotide excision repair (NER)					T	68550442	C	T	68550442	2	4	364	1	0	0	0	0	0	0	0	1	3179	639	23	1		1	CDK7	5	68550442	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59924	68550442	112364818	4440	27942											
CCDC125	202243	broad.mit.edu	37	chr5	68616261	68616261	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatttcataaatcccaccaGgtttccttccgaggccatac	10	12	5	14	1	1	0	1	0	0	0	4	1	4	0	5	2	1	1	5	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68616261G>T	ENST00000396496.2	-	2	214	c.107C>A	c.(106-108)cCt>cAt	p.P36H	CCDC125_ENST00000396499.1_Missense_Mutation_p.P36H|CCDC125_ENST00000511257.1_Intron|CCDC125_ENST00000383374.2_Missense_Mutation_p.P36H|CCDC125_ENST00000460090.1_Intron			Q86Z20	CC125_HUMAN	coiled-coil domain containing 125	36						cytoplasm				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(7)|urinary_tract(1)	19		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.2e-56)|Epithelial(20;2.31e-52)|all cancers(19;5.85e-48)|Lung(70;0.0183)		AATCCCACCAGGTTTCCTTCC	0.438													T	68616261	G	T	68616261	3	4	364	1	0	0	0	0	1	0	0	0	2787	1000	35	4	1472	4	CCDC125	5	68616261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65819	68616261	112298999	4441	27943											
TAF9	6880	broad.mit.edu	37	chr5	68647899	68647899	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttataagtcaagagttatGatctttgatccactgctcaa	12	14	6	9	0	3	3	2	2	1	1	4	3	4	3	2	0	1	2	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68647899G>T	ENST00000380822.4	-	5	559	c.508C>A	c.(508-510)Cat>Aat	p.H170N	TAF9_ENST00000512561.1_Missense_Mutation_p.H139N|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.H167N	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	170						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		CAAGAGTTATGATCTTTGATC	0.358													T	68647899	G	T	68647899	3	4	364	1	0	0	0	0	1	0	0	0	15632	1290	45	4	14	4	TAF9	5	68647899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31638	68647899	112267361	4442	27944											
TAF9	6880	broad.mit.edu	37	chr5	68648055	68648055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcacactgaatattgtCtgttagtttcttctcattat	10	19	4	8	0	4	1	2	1	4	0	6	1	4	1	0	0	0	2	0	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68648055C>A	ENST00000380822.4	-	5	403	c.352G>T	c.(352-354)Gac>Tac	p.D118Y	TAF9_ENST00000512561.1_Missense_Mutation_p.D87Y|TAF9_ENST00000502819.1_5'UTR|TAF9_ENST00000380818.3_Missense_Mutation_p.D115Y	NM_016283.4	NP_057367.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	118						Cajal body	adenylate kinase activity|ATP binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		TGAATATTGTCTGTTAGTTTC	0.383													A	68648055	C	A	68648055	3	1	364	1	0	0	0	0	1	0	0	0	15632	913	32	4	170	4	TAF9	5	68648055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156	68648055	112267205	4443	27945											
RAD17	5884	broad.mit.edu	37	chr5	68687668	68687668	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattattcaggagaaaacaaCttacggccaaggaaaaaagg	19	7	9	6	1	1	1	1	0	0	1	1	3	1	2	1	4	3	0	1	4	10	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68687668C>T	ENST00000509734.1	+	12	1728	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	RAD17_ENST00000354312.3_Silent_p.N339N|RAD17_ENST00000358030.2_Silent_p.N174N|RAD17_ENST00000521422.1_Silent_p.N174N|RAD17_ENST00000282891.6_Silent_p.N253N|RAD17_ENST00000305138.4_Silent_p.N339N|RAD17_ENST00000361732.2_Silent_p.N339N|RAD17_ENST00000380774.3_Silent_p.N350N|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Silent_p.N339N|RAD17_ENST00000354868.5_Silent_p.N339N			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	350					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		GAGAAAACAACTTACGGCCAA	0.289								Other conserved DNA damage response genes					T	68687668	C	T	68687668	2	4	364	1	0	0	0	0	0	0	0	1	13067	564	20	2		2	RAD17	5	68687668	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39613	68687668	112227592	4444	27946											
RAD17	5884	broad.mit.edu	37	chr5	68695879	68695879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcttttctatacagtatCgggaaaattgcctggcagca	10	15	8	8	1	2	0	0	0	2	0	3	1	2	1	1	2	3	3	1	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68695879C>T	ENST00000509734.1	+	16	2287	c.1609C>T	c.(1609-1611)Cgg>Tgg	p.R537W	RAD17_ENST00000354312.3_Missense_Mutation_p.R526W|RAD17_ENST00000358030.2_Missense_Mutation_p.R361W|RAD17_ENST00000521422.1_Missense_Mutation_p.R361W|RAD17_ENST00000282891.6_Missense_Mutation_p.R440W|RAD17_ENST00000305138.4_Missense_Mutation_p.R526W|RAD17_ENST00000361732.2_Missense_Mutation_p.R526W|RAD17_ENST00000380774.3_Missense_Mutation_p.R537W|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000345306.6_Missense_Mutation_p.R526W|RAD17_ENST00000354868.5_Missense_Mutation_p.R526W			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	537	Interaction with MCM7.				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TATACAGTATCGGGAAAATTG	0.328								Other conserved DNA damage response genes					T	68695879	C	T	68695879	3	4	364	1	0	0	0	0	1	0	0	0	13067	875	31	1	1676	1	RAD17	5	68695879	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8211	68695879	112219381	4445	27947											
MARVELD2	153562	broad.mit.edu	37	chr5	68715327	68715327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactcttcatgacagtgagCgggcagtgagcgctgatccc	9	8	12	12	2	2	4	1	4	1	0	3	4	3	4	1	1	3	2	1	1	1	1	rs145027254		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715327C>T	ENST00000325631.5	+	2	189	c.115C>T	c.(115-117)Cgg>Tgg	p.R39W	MARVELD2_ENST00000413223.2_Missense_Mutation_p.R39W	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	39					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGACAGTGAGCGGGCAGTGAG	0.552													T	68715327	C	T	68715327	3	4	364	1	0	0	0	0	1	0	0	0	9393	759	27	1	117	1	MARVELD2	5	68715327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19448	68715327	112199933	4446	27948											
MARVELD2	153562	broad.mit.edu	37	chr5	68715761	68715761	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggagtataacctgagataCtcctacatgaagtcgtgggc	12	9	12	8	1	0	2	0	2	0	1	2	5	1	3	2	2	3	1	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715761C>A	ENST00000325631.5	+	2	623	c.549C>A	c.(547-549)taC>taA	p.Y183*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.Y183*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	183					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		ACCTGAGATACTCCTACATGA	0.517													A	68715761	C	A	68715761	4	1	364	1	0	0	0	0	0	1	0	0	9393	576	20	4	551	4	MARVELD2	5	68715761	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	434	68715761	112199499	4447	27949											
MARVELD2	153562	broad.mit.edu	37	chr5	68715841	68715841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccggtgtctttgcttGtgtcacagcttacattcaca	6	13	12	10	1	3	0	2	0	1	0	3	0	3	0	1	3	3	2	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68715841G>C	ENST00000325631.5	+	2	703	c.629G>C	c.(628-630)tGt>tCt	p.C210S	MARVELD2_ENST00000413223.2_Missense_Mutation_p.C210S	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	210	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		GTCTTTGCTTGTGTCACAGCT	0.502													C	68715841	G	C	68715841	3	2	364	1	0	0	0	0	1	0	0	0	9393	1377	48	4	631	4	MARVELD2	5	68715841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	68715841	112199419	4448	27950											
MARVELD2	153562	broad.mit.edu	37	chr5	68716065	68716065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	attaccggaccattcttctgGactctaattggtggccccta	8	13	8	12	1	3	0	0	0	3	0	3	2	3	2	4	4	1	0	4	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68716065G>A	ENST00000325631.5	+	2	927	c.853G>A	c.(853-855)Gac>Aac	p.D285N	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	285	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		CATTCTTCTGGACTCTAATTG	0.433													A	68716065	G	A	68716065	3	1	364	1	0	0	0	0	1	0	0	0	9393	1174	41	2	855	2	MARVELD2	5	68716065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	224	68716065	112199195	4449	27951											
MARVELD2	153562	broad.mit.edu	37	chr5	68728780	68728780	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattcagacagatgatgagCgagaacgctataaagctgtg	14	9	12	6	2	1	6	1	3	0	3	1	7	1	6	0	0	3	2	0	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68728780C>T	ENST00000325631.5	+	5	1437	c.1363C>T	c.(1363-1365)Cga>Tga	p.R455*	MARVELD2_ENST00000413223.2_Nonsense_Mutation_p.R339*	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	455					sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		AGATGATGAGCGAGAACGCTA	0.413													T	68728780	C	T	68728780	4	4	364	1	0	0	0	0	0	1	0	0	9393	760	27	1	1377	1	MARVELD2	5	68728780	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12715	68728780	112186480	4450	27952											
OCLN	100506658	broad.mit.edu	37	chr5	68805040	68805040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaccaatgctctctcaGccagcctactctttttaccc	7	13	5	16	1	3	0	1	0	2	0	5	1	3	0	4	0	5	2	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805040G>A	ENST00000355237.2	+	3	559	c.123G>A	c.(121-123)caG>caA	p.Q41Q	OCLN_ENST00000396442.2_Silent_p.Q41Q|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Silent_p.Q41Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	41					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGCTCTCTCAGCCAGCCTACT	0.408													A	68805040	G	A	68805040	2	1	364	1	0	0	0	0	0	0	0	1	10896	962	34	2		2	OCLN	5	68805040	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76260	68805040	112110220	4451	27953											
OCLN	100506658	broad.mit.edu	37	chr5	68805114	68805114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctccaggagtgattcGgatcctgtctatgctcatta	7	14	8	12	1	3	1	1	1	2	0	7	3	5	3	3	2	1	1	3	2	2	3	rs116363086	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:68805114G>A	ENST00000355237.2	+	3	633	c.197G>A	c.(196-198)cGg>cAg	p.R66Q	OCLN_ENST00000396442.2_Missense_Mutation_p.R66Q|OCLN_ENST00000542132.1_Intron|OCLN_ENST00000538151.1_Intron|OCLN_ENST00000380766.2_Missense_Mutation_p.R66Q	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	66	MARVEL.				cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		GGAGTGATTCGGATCCTGTCT	0.478													A	68805114	G	A	68805114	3	1	364	1	0	0	0	0	1	0	0	0	10896	1116	39	1	203	1	OCLN	5	68805114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74	68805114	112110146	4452	27954											
BDP1	55814	broad.mit.edu	37	chr5	70791221	70791221	+	Frame_Shift_Del	DEL	A	A	-																															gaagaaagaaatgttgacctAaaaaataattcactgtaagt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70791221delA	ENST00000358731.4	+	12	2048	c.1785delA	c.(1783-1785)ctafs	p.L595fs	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	595					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ATGTTGACCTAAAAAATAATT	0.303													-	70791221	A	-	70791221	7	5	364	1	0	1	0	1	0	0	0	0	1400	349	13	0	1831	0	BDP1	5	70791221	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1986107	70791221	110124039	4453	27955											
BDP1	55814	broad.mit.edu	37	chr5	70798476	70798476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaactaaaggctttaaGacctgtacaagtgaggggcc	13	8	12	8	0	1	2	1	1	0	1	1	3	1	2	2	3	2	2	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70798476G>T	ENST00000358731.4	+	15	2362	c.2099G>T	c.(2098-2100)aGa>aTa	p.R700I	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	700					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAGGCTTTAAGACCTGTACAA	0.383													T	70798476	G	T	70798476	3	4	364	1	0	0	0	0	1	0	0	0	1400	942	33	4	2157	4	BDP1	5	70798476	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7255	70798476	110116784	4454	27956											
BDP1	55814	broad.mit.edu	37	chr5	70837939	70837939	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctgtttttaggaatacaAtttctaaagtgaccagtaat	13	16	6	6	0	2	1	0	1	2	0	2	2	2	2	1	1	1	2	1	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70837939A>C	ENST00000358731.4	+	30	6522	c.6259A>C	c.(6259-6261)Att>Ctt	p.I2087L	BDP1_ENST00000380675.2_Missense_Mutation_p.I223L	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	2087					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TAGGAATACAATTTCTAAAGT	0.358													C	70837939	A	C	70837939	3	2	364	1	0	0	0	0	1	0	0	0	1400	101	4	5	6377	5	BDP1	5	70837939	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39463	70837939	110077321	4455	27957											
MCCC2	64087	broad.mit.edu	37	chr5	70900290	70900290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatgtcttctaaaaatattGcacaggtaatttttcatgaa	14	17	5	5	0	3	1	1	1	2	0	3	1	3	1	0	1	1	2	0	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70900290G>A	ENST00000340941.6	+	6	748	c.619G>A	c.(619-621)Gca>Aca	p.A207T	MCCC2_ENST00000509358.2_Missense_Mutation_p.A207T|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Missense_Mutation_p.A207T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	207	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TAAAAATATTGCACAGGTAAT	0.378													A	70900290	G	A	70900290	3	1	364	1	0	0	0	0	1	0	0	0	9450	1319	46	2	641	2	MCCC2	5	70900290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62351	70900290	110014970	4456	27958											
MCCC2	64087	broad.mit.edu	37	chr5	70922494	70922494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcatgggctcctgcaccGcaggaggagcctatgtgcct	6	9	14	12	1	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70922494G>A	ENST00000340941.6	+	7	781	c.652G>A	c.(652-654)Gca>Aca	p.A218T	MCCC2_ENST00000509358.2_Missense_Mutation_p.A218T|MCCC2_ENST00000510895.2_3'UTR|MCCC2_ENST00000323375.8_Intron	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	218	Carboxyltransferase.		A -> T (in MCC2 deficiency).		leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	CTCCTGCACCGCAGGAGGAGC	0.498													A	70922494	G	A	70922494	3	1	364	1	0	0	0	0	1	0	0	0	9450	1087	38	1	678	1	MCCC2	5	70922494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22204	70922494	109992766	4457	27959											
MCCC2	64087	broad.mit.edu	37	chr5	70945895	70945895	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccttttcttcccccaGcccaagatttctctacattt	6	18	2	15	0	3	1	0	0	3	1	6	1	5	1	4	0	2	0	4	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:70945895G>T	ENST00000340941.6	+	15	1502		c.e15-1		MCCC2_ENST00000323375.8_Splice_Site	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)						leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	TCTTCCCCCAGCCCAAGATTT	0.433													T	70945895	G	T	70945895	5	4	364	1	0	0	0	0	0	0	1	0	9450	985	34	4	1431	4	MCCC2	5	70945895	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23401	70945895	109969365	4458	27960											
MAP1B	4131	broad.mit.edu	37	chr5	71482482	71482482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcccgacacaagctgctCgtgctgaccgggcagtgctt	6	8	13	14	3	0	1	0	1	0	0	1	2	0	1	2	1	5	6	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71482482C>T	ENST00000296755.7	+	4	709	c.411C>T	c.(409-411)ctC>ctT	p.L137L		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	137						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		ACAAGCTGCTCGTGCTGACCG	0.527													T	71482482	C	T	71482482	2	4	364	1	0	0	0	0	0	0	0	1	9303	871	31	1		1	MAP1B	5	71482482	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	536587	71482482	109432778	4459	27961											
MAP1B	4131	broad.mit.edu	37	chr5	71490623	71490623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcatccagcaaaccctGcggagaaaatcatccgagtc	12	7	10	12	2	1	1	1	0	0	1	4	3	3	1	3	2	3	2	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71490623G>A	ENST00000296755.7	+	5	1739	c.1441G>A	c.(1441-1443)Gcg>Acg	p.A481T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	481						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGCAAACCCTGCGGAGAAAAT	0.463													A	71490623	G	A	71490623	3	1	364	1	0	0	0	0	1	0	0	0	9303	1319	46	2	1459	2	MAP1B	5	71490623	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8141	71490623	109424637	4460	27962											
MAP1B	4131	broad.mit.edu	37	chr5	71491726	71491726	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagttaaaggctgaagaggtCgatgtaacaaaggacatcaa	17	7	12	5	1	1	2	1	1	0	1	2	5	1	3	0	3	1	3	0	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71491726C>T	ENST00000296755.7	+	5	2842	c.2544C>T	c.(2542-2544)gtC>gtT	p.V848V		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	848						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CTGAAGAGGTCGATGTAACAA	0.488													T	71491726	C	T	71491726	2	4	364	1	0	0	0	0	0	0	0	1	9303	871	31	1		1	MAP1B	5	71491726	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1103	71491726	109423534	4461	27963											
MAP1B	4131	broad.mit.edu	37	chr5	71492953	71492953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagcccatcgaagagcccGtccctgagtccatctccacc	8	7	8	18	2	2	2	1	1	1	1	6	3	4	2	6	0	2	0	6	0	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71492953G>A	ENST00000296755.7	+	5	4069	c.3771G>A	c.(3769-3771)ccG>ccA	p.P1257P		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1257						microtubule|microtubule associated complex	structural molecule activity	p.P1257P(2)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CGAAGAGCCCGTCCCTGAGTC	0.498													A	71492953	G	A	71492953	2	1	364	1	0	0	0	0	0	0	0	1	9303	1132	40	1		1	MAP1B	5	71492953	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1227	71492953	109422307	4462	27964											
MAP1B	4131	broad.mit.edu	37	chr5	71494288	71494288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccagtttatcacataaGataccacctatggaggagcc	13	9	8	11	0	1	1	1	0	0	1	2	4	2	3	4	2	2	1	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71494288G>T	ENST00000296755.7	+	5	5404	c.5106G>T	c.(5104-5106)aaG>aaT	p.K1702N		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1702						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TATCACATAAGATACCACCTA	0.507													T	71494288	G	T	71494288	3	4	364	1	0	0	0	0	1	0	0	0	9303	933	33	4	5124	4	MAP1B	5	71494288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1335	71494288	109420972	4463	27965											
MAP1B	4131	broad.mit.edu	37	chr5	71495246	71495246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttccctgagtctgaaGgttattcctatgagacatct	9	14	8	10	0	2	3	0	3	2	1	4	4	4	3	3	1	0	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71495246G>T	ENST00000296755.7	+	5	6362	c.6064G>T	c.(6064-6066)Ggt>Tgt	p.G2022C		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2022						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TGAGTCTGAAGGTTATTCCTA	0.463													T	71495246	G	T	71495246	3	4	364	1	0	0	0	0	1	0	0	0	9303	1000	35	4	6082	4	MAP1B	5	71495246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	958	71495246	109420014	4464	27966											
MAP1B	4131	broad.mit.edu	37	chr5	71496185	71496185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccaagtcggccaagaccGccactgcaggtaggttgaga	11	6	12	12	2	0	2	0	1	0	2	2	3	1	2	4	3	1	3	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71496185G>A	ENST00000296755.7	+	5	7301	c.7003G>A	c.(7003-7005)Gcc>Acc	p.A2335T		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	2335						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GGCCAAGACCGCCACTGCAGG	0.507													A	71496185	G	A	71496185	3	1	364	1	0	0	0	0	1	0	0	0	9303	1087	38	1	7021	1	MAP1B	5	71496185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	939	71496185	109419075	4465	27967											
MRPS27	23107	broad.mit.edu	37	chr5	71516782	71516782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctggtactcctgcttcGcttgctccctctgttgctgt	2	15	10	14	1	1	0	0	0	1	0	4	1	3	0	3	1	5	6	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71516782G>A	ENST00000261413.5	-	11	1238	c.1199C>T	c.(1198-1200)gCg>gTg	p.A400V	MRPS27_ENST00000513900.1_Missense_Mutation_p.A414V|MRPS27_ENST00000457646.4_Missense_Mutation_p.A344V	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	400						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CTCCTGCTTCGCTTGCTCCCT	0.547													A	71516782	G	A	71516782	3	1	364	1	0	0	0	0	1	0	0	0	9914	1087	38	1	49	1	MRPS27	5	71516782	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20597	71516782	109398478	4466	27968											
MRPS27	23107	broad.mit.edu	37	chr5	71528293	71528293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctgtcttctttgccaGgcaatgaaataaaacataga	15	11	8	7	0	3	2	0	1	3	1	3	3	3	2	1	1	2	1	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71528293G>T	ENST00000261413.5	-	7	607	c.568C>A	c.(568-570)Ctg>Atg	p.L190M	MRPS27_ENST00000515404.1_Missense_Mutation_p.L134M|MRPS27_ENST00000522562.1_5'UTR|MRPS27_ENST00000513900.1_Missense_Mutation_p.L204M|MRPS27_ENST00000457646.4_Missense_Mutation_p.L134M	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	190						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		TTCTTTGCCAGGCAATGAAAT	0.418													T	71528293	G	T	71528293	3	4	364	1	0	0	0	0	1	0	0	0	9914	991	35	4	696	4	MRPS27	5	71528293	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11511	71528293	109386967	4467	27969											
ZNF366	167465	broad.mit.edu	37	chr5	71739619	71739619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgcttgtttttccattttCctctccagtaattctttcaa	7	20	3	11	0	3	0	1	0	2	0	6	0	5	0	3	0	1	3	3	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739619C>T	ENST00000318442.5	-	5	2689	c.2199G>A	c.(2197-2199)agG>agA	p.R733R		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTTCCATTTTCCTCTCCAGTA	0.398													T	71739619	C	T	71739619	2	4	364	1	0	0	0	0	0	0	0	1	17971	854	30	2		2	ZNF366	5	71739619	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211326	71739619	109175641	4468	27970											
ZNF366	167465	broad.mit.edu	37	chr5	71739898	71739898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgggtgtgcagagctgCtggctctggggggccaggcc	3	8	18	12	1	1	1	0	0	1	1	3	1	2	1	3	6	3	4	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71739898C>A	ENST00000318442.5	-	5	2410	c.1920G>T	c.(1918-1920)caG>caT	p.Q640H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	640					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TGCAGAGCTGCTGGCTCTGGG	0.652													A	71739898	C	A	71739898	3	1	364	1	0	0	0	0	1	0	0	0	17971	796	28	4	318	4	ZNF366	5	71739898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	279	71739898	109175362	4469	27971											
ZNF366	167465	broad.mit.edu	37	chr5	71756469	71756469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaagagcttcccgcaGtgcgtgcacgcgtgcggctt	5	10	14	12	5	0	2	0	1	0	1	1	2	1	2	1	1	5	5	1	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:71756469G>T	ENST00000318442.5	-	2	1345	c.855C>A	c.(853-855)caC>caA	p.H285Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCTTCCCGCAGTGCGTGCACG	0.632													T	71756469	G	T	71756469	3	4	364	1	0	0	0	0	1	0	0	0	17971	1020	36	4	1395	4	ZNF366	5	71756469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16571	71756469	109158791	4470	27972											
TNPO1	3842	broad.mit.edu	37	chr5	72171523	72171523	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtgatgttgctcgaagttCgaatggatcgcctgcttcct	6	15	11	9	3	0	1	0	1	0	0	4	4	1	2	2	1	2	4	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72171523C>T	ENST00000337273.5	+	8	1186	c.760C>T	c.(760-762)Cga>Tga	p.R254*	TNPO1_ENST00000506351.2_Nonsense_Mutation_p.R246*|TNPO1_ENST00000523768.1_Nonsense_Mutation_p.R204*|TNPO1_ENST00000447967.2_3'UTR|TNPO1_ENST00000454282.1_Nonsense_Mutation_p.R204*	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	254					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		GCTCGAAGTTCGAATGGATCG	0.408													T	72171523	C	T	72171523	4	4	364	1	0	0	0	0	0	1	0	0	16435	876	31	1	790	1	TNPO1	5	72171523	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	415054	72171523	108743737	4471	27973											
TNPO1	3842	broad.mit.edu	37	chr5	72185660	72185660	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtacagaacttgttccttAccttgcttatatacttgata	10	18	5	8	0	0	2	0	1	0	1	1	2	1	2	2	0	5	3	2	0	7	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72185660A>G	ENST00000337273.5	+	14	2003	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	TNPO1_ENST00000506351.2_Missense_Mutation_p.Y518C|TNPO1_ENST00000523768.1_Missense_Mutation_p.Y476C|TNPO1_ENST00000454282.1_Missense_Mutation_p.Y476C	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	526					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		CTTGTTCCTTACCTTGCTTAT	0.348													G	72185660	A	G	72185660	3	3	364	1	0	0	0	0	1	0	0	0	16435	391	14	3	1631	3	TNPO1	5	72185660	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14137	72185660	108729600	4472	27974											
TNPO1	3842	broad.mit.edu	37	chr5	72199591	72199591	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattaacccaaaagatgatcTcagagacatgttctgtaagg	15	10	9	7	0	2	3	1	1	2	2	3	5	2	3	1	1	1	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72199591T>C	ENST00000337273.5	+	23	2996	c.2570T>C	c.(2569-2571)cTc>cCc	p.L857P	TNPO1_ENST00000506351.2_Missense_Mutation_p.L849P|TNPO1_ENST00000523768.1_Missense_Mutation_p.L807P|TNPO1_ENST00000454282.1_Missense_Mutation_p.L807P	NM_002270.3	NP_002261.3	Q92973	TNPO1_HUMAN	transportin 1	857					interspecies interaction between organisms|mRNA metabolic process|protein import into nucleus, translocation	cytosol|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(6)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	36		Lung NSC(167;0.0053)|Ovarian(174;0.0175)		OV - Ovarian serous cystadenocarcinoma(47;6.14e-54)		AAAGATGATCTCAGAGACATG	0.299													C	72199591	T	C	72199591	3	2	364	1	0	0	0	0	1	0	0	0	16435	1551	54	3	2660	3	TNPO1	5	72199591	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13931	72199591	108715669	4473	27975											
ANKRA2	57763	broad.mit.edu	37	chr5	72858427	72858427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactttcaacctttaaataGgacagatgccacctccaggt	13	11	6	11	0	1	1	1	0	0	1	2	2	2	2	4	2	3	0	4	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:72858427G>T	ENST00000296785.3	-	2	938	c.280C>A	c.(280-282)Cta>Ata	p.L94I		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	94						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		CCTTTAAATAGGACAGATGCC	0.323													T	72858427	G	T	72858427	3	4	364	1	0	0	0	0	1	0	0	0	636	991	35	4	693	4	ANKRA2	5	72858427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	658836	72858427	108056833	4474	27976											
ENC1	8507	broad.mit.edu	37	chr5	73931595	73931595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagatggctggcagaagtGccagccttactgtctgcaac	10	9	12	10	0	1	2	0	0	1	2	1	3	1	2	2	2	5	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931595G>A	ENST00000302351.4	-	2	1846	c.716C>T	c.(715-717)gCa>gTa	p.A239V	ENC1_ENST00000537006.1_Missense_Mutation_p.A239V|ENC1_ENST00000510316.1_Missense_Mutation_p.A166V	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	239					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGCAGAAGTGCCAGCCTTAC	0.488													A	73931595	G	A	73931595	3	1	364	1	0	0	0	0	1	0	0	0	5154	1319	46	2	1057	2	ENC1	5	73931595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1073168	73931595	106983665	4475	27977											
ENC1	8507	broad.mit.edu	37	chr5	73931707	73931707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttcatcctctgtctccaGctcttcactggacaagagtt	7	14	6	14	0	5	1	2	0	3	1	7	2	6	2	3	1	1	2	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931707G>T	ENST00000302351.4	-	2	1734	c.604C>A	c.(604-606)Ctg>Atg	p.L202M	ENC1_ENST00000537006.1_Missense_Mutation_p.L202M|ENC1_ENST00000510316.1_Missense_Mutation_p.L129M	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	202					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TCTGTCTCCAGCTCTTCACTG	0.483													T	73931707	G	T	73931707	3	4	364	1	0	0	0	0	1	0	0	0	5154	962	34	4	1169	4	ENC1	5	73931707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112	73931707	106983553	4476	27978											
ENC1	8507	broad.mit.edu	37	chr5	73931761	73931761	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcagctggaggaaatCttcattcttcctgatggttt	7	14	12	8	0	3	1	1	1	2	0	4	3	4	3	1	5	1	3	1	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73931761C>A	ENST00000302351.4	-	2	1680	c.550G>T	c.(550-552)Gat>Tat	p.D184Y	ENC1_ENST00000537006.1_Missense_Mutation_p.D184Y|ENC1_ENST00000510316.1_Missense_Mutation_p.D111Y	NM_003633.3	NP_003624.1	O14682	ENC1_HUMAN	ectodermal-neural cortex 1 (with BTB domain)	184					nervous system development	cytoplasm|cytoskeleton|nuclear matrix	actin binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	20		all_lung(232;0.0154)|Lung NSC(167;0.0331)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;1.45e-59)		TGGAGGAAATCTTCATTCTTC	0.498													A	73931761	C	A	73931761	3	1	364	1	0	0	0	0	1	0	0	0	5154	913	32	4	1223	4	ENC1	5	73931761	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54	73931761	106983499	4477	27979											
HEXB	3074	broad.mit.edu	37	chr5	73985152	73985152	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttatttctcaaacaGatatcatggctatatttttg	12	19	4	6	0	2	1	2	0	1	1	3	1	2	1	0	1	2	1	0	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:73985152G>T	ENST00000511181.1	+	2	536		c.e2-1		HEXB_ENST00000261416.7_Splice_Site			P07686	HEXB_HUMAN	hexosaminidase B (beta polypeptide)						cell death	lysosome	cation binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(3)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Breast(144;0.231)		OV - Ovarian serous cystadenocarcinoma(47;1.72e-57)		TTCTCAAACAGATATCATGGC	0.353													T	73985152	G	T	73985152	5	4	364	1	0	0	0	0	0	0	1	0	7129	956	33	4	305	4	HEXB	5	73985152	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53391	73985152	106930108	4478	27980											
GCNT4	51301	broad.mit.edu	37	chr5	74324682	74324682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccaccttaattctgcagctCcataaatacacacgcttcga	12	10	5	14	2	1	0	0	0	1	0	3	1	2	0	3	0	3	3	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74324682C>T	ENST00000322348.4	-	1	2042	c.1181G>A	c.(1180-1182)gGa>gAa	p.G394E		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	394					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		TTCTGCAGCTCCATAAATACA	0.403													T	74324682	C	T	74324682	3	4	364	1	0	0	0	0	1	0	0	0	6357	855	30	2	184	2	GCNT4	5	74324682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339530	74324682	106590578	4479	27981											
GCNT4	51301	broad.mit.edu	37	chr5	74325630	74325630	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttccaaaggctcctgtTcatagatacccgaacagtta	13	11	6	11	1	1	1	1	0	0	1	3	2	3	1	3	1	2	3	3	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74325630T>G	ENST00000322348.4	-	1	1094	c.233A>C	c.(232-234)gAa>gCa	p.E78A		NM_016591.2	NP_057675.1	Q9P109	GCNT4_HUMAN	glucosaminyl (N-acetyl) transferase 4, core 2	78					protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|skin(1)|stomach(2)	19		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)		OV - Ovarian serous cystadenocarcinoma(47;8.44e-57)		AGGCTCCTGTTCATAGATACC	0.413													G	74325630	T	G	74325630	3	3	364	1	0	0	0	0	1	0	0	0	6357	1783	62	5	1132	5	GCNT4	5	74325630	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	948	74325630	106589630	4480	27982											
HMGCR	3156	broad.mit.edu	37	chr5	74650486	74650486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttcagaaccttcttctctCcagtacctaccttacaggga	9	13	5	14	0	3	1	1	0	2	1	5	2	4	2	4	1	4	1	4	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74650486C>T	ENST00000287936.4	+	12	1683	c.1527C>T	c.(1525-1527)ctC>ctT	p.L509L	HMGCR_ENST00000511206.1_Silent_p.L509L|HMGCR_ENST00000343975.5_Silent_p.L509L	NM_000859.2	NP_000850.1	P04035	HMDH_HUMAN	3-hydroxy-3-methylglutaryl-CoA reductase	509	Catalytic.				cholesterol biosynthetic process|coenzyme A metabolic process|germ cell migration|gonad development|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|peroxisomal membrane	hydroxymethylglutaryl-CoA reductase (NADPH) activity|NADP binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	20		all_lung(232;0.00101)|Lung NSC(167;0.00278)|Ovarian(174;0.0129)|Prostate(461;0.174)		OV - Ovarian serous cystadenocarcinoma(47;2.24e-54)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Cerivastatin(DB00439)|Fluvastatin(DB01095)|Lovastatin(DB00227)|NADH(DB00157)|Pravastatin(DB00175)|Rosuvastatin(DB01098)|Simvastatin(DB00641)	CTTCTTCTCTCCAGTACCTAC	0.378													T	74650486	C	T	74650486	2	4	364	1	0	0	0	0	0	0	0	1	7286	842	30	2		2	HMGCR	5	74650486	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	324856	74650486	106264774	4481	27983											
POLK	51426	broad.mit.edu	37	chr5	74892160	74892160	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccactgagtgtacattaGagaaaactgacaaagataag	18	7	9	7	0	0	4	0	2	0	2	0	5	0	4	1	0	3	1	1	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:74892160G>T	ENST00000241436.4	+	13	1814	c.1642G>T	c.(1642-1644)Gag>Tag	p.E548*	POLK_ENST00000508526.1_Nonsense_Mutation_p.E350*|POLK_ENST00000506928.1_3'UTR|POLK_ENST00000352007.5_Nonsense_Mutation_p.E350*|POLK_ENST00000380481.3_Nonsense_Mutation_p.E458*|POLK_ENST00000504026.1_Intron	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	548					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTACATTAGAGAAAACTGA	0.383								DNA polymerases (catalytic subunits)					T	74892160	G	T	74892160	4	4	364	1	0	0	0	0	0	1	0	0	12281	943	33	4	1688	4	POLK	5	74892160	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241674	74892160	106023100	4482	27984											
SV2C	22987	broad.mit.edu	37	chr5	75427914	75427914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcagtggggcagcccaaGggcgatgagtacaaggaccg	10	5	17	9	2	1	1	1	1	0	0	1	3	1	2	2	4	2	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75427914G>A	ENST00000502798.2	+	2	781	c.339G>A	c.(337-339)aaG>aaA	p.K113K	SV2C_ENST00000322285.7_Silent_p.K113K	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	113					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		GGCAGCCCAAGGGCGATGAGT	0.542													A	75427914	G	A	75427914	2	1	364	1	0	0	0	0	0	0	0	1	15515	991	35	2		2	SV2C	5	75427914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	535754	75427914	105487346	4483	27985											
SV2C	22987	broad.mit.edu	37	chr5	75621360	75621360	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgacacacgaacccaGgttctgatgtaatgggaaaa	13	8	10	10	1	1	2	0	2	1	0	1	4	1	3	2	2	2	2	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75621360G>T	ENST00000502798.2	+	13	2614	c.2172G>T	c.(2170-2172)caG>caT	p.Q724H	SV2C_ENST00000322285.7_Intron	NM_014979.1	NP_055794.1	Q496J9	SV2C_HUMAN	synaptic vesicle glycoprotein 2C	724					neurotransmitter transport	cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_lung(232;0.007)|Lung NSC(167;0.0148)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;1.16e-50)|all cancers(79;7.25e-40)		CACGAACCCAGGTTCTGATGT	0.517													T	75621360	G	T	75621360	3	4	364	1	0	0	0	0	1	0	0	0	15515	991	35	4	2218	4	SV2C	5	75621360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193446	75621360	105293900	4484	27986											
IQGAP2	10788	broad.mit.edu	37	chr5	75902110	75902110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgatatggttaatgctcaaAttcaagaagaaaatgaccgt	16	12	8	5	1	2	4	2	2	0	2	2	4	2	4	1	1	1	2	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75902110A>G	ENST00000274364.6	+	12	1636	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	IQGAP2_ENST00000379730.3_Missense_Mutation_p.I6V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	447					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TAATGCTCAAATTCAAGAAGA	0.348													G	75902110	A	G	75902110	3	3	364	1	0	0	0	0	1	0	0	0	7873	101	4	3	1385	3	IQGAP2	5	75902110	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	280750	75902110	105013150	4485	27987											
IQGAP2	10788	broad.mit.edu	37	chr5	75927843	75927843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaggcaaaagagctcaaatCtgaaagaggtaagttggttt	16	9	12	4	0	2	3	1	1	1	2	2	4	2	3	0	3	1	5	0	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75927843C>T	ENST00000274364.6	+	15	2069	c.1772C>T	c.(1771-1773)tCt>tTt	p.S591F	IQGAP2_ENST00000396234.3_Missense_Mutation_p.S144F|IQGAP2_ENST00000502745.1_Missense_Mutation_p.S144F|IQGAP2_ENST00000379730.3_Missense_Mutation_p.S150F	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	591					small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		GAGCTCAAATCTGAAAGAGGT	0.328													T	75927843	C	T	75927843	3	4	364	1	0	0	0	0	1	0	0	0	7873	913	32	2	1830	2	IQGAP2	5	75927843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25733	75927843	104987417	4486	27988											
IQGAP2	10788	broad.mit.edu	37	chr5	75967619	75967619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtacaggacatagttactgGtaaccctacagtcatcaaga	14	9	9	9	0	2	1	2	0	0	1	2	2	2	2	1	3	4	3	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75967619G>A	ENST00000274364.6	+	24	3176	c.2879G>A	c.(2878-2880)gGt>gAt	p.G960D	IQGAP2_ENST00000396234.3_Missense_Mutation_p.G456D|IQGAP2_ENST00000502745.1_Missense_Mutation_p.G456D|IQGAP2_ENST00000379730.3_Missense_Mutation_p.G462D	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	960	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATAGTTACTGGTAACCCTACA	0.433													A	75967619	G	A	75967619	3	1	364	1	0	0	0	0	1	0	0	0	7873	1261	44	2	2973	2	IQGAP2	5	75967619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39776	75967619	104947641	4487	27989											
IQGAP2	10788	broad.mit.edu	37	chr5	75969777	75969777	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcatctgttttatatgtagTtatggattgaggtatatagc	10	18	10	3	0	2	1	1	1	1	0	2	2	2	2	0	2	1	4	0	2	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:75969777T>C	ENST00000274364.6	+	26	3507	c.3210T>C	c.(3208-3210)ccT>ccC	p.P1070P	IQGAP2_ENST00000396234.3_Splice_Site_p.P566P|IQGAP2_ENST00000502745.1_Splice_Site_p.P566P|IQGAP2_ENST00000379730.3_Splice_Site_p.P572P	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1070	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		TTATATGTAGTTATGGATTGA	0.363													C	75969777	T	C	75969777	5	2	364	1	0	0	0	0	0	0	1	0	7873	1739	60	3	3312	3	IQGAP2	5	75969777	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2158	75969777	104945483	4488	27990											
CRHBP	1393	broad.mit.edu	37	chr5	76254685	76254685	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaatatctgatcttaccCtgggacacgtaaatggtctt	12	13	7	9	1	4	1	1	1	3	0	4	2	4	2	1	2	1	1	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:76254685C>A	ENST00000274368.4	+	5	1086	c.664C>A	c.(664-666)Ctg>Atg	p.L222M	CRHBP_ENST00000506501.1_Missense_Mutation_p.L222M|CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	222					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TGATCTTACCCTGGGACACGT	0.413													A	76254685	C	A	76254685	3	1	364	1	0	0	0	0	1	0	0	0	3901	680	24	4	682	4	CRHBP	5	76254685	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	284908	76254685	104660575	4489	27991											
TBCA	6902	broad.mit.edu	37	chr5	77004141	77004141	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcttgttgttttgcctCtttttcatacatcacttttt	4	25	3	9	0	5	0	2	0	3	0	5	0	5	0	1	0	2	2	1	0	1	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:77004141C>A	ENST00000306388.6	-	2	114	c.85G>T	c.(85-87)Gag>Tag	p.E29*	TBCA_ENST00000380377.4_Nonsense_Mutation_p.E29*|TBCA_ENST00000518338.2_Nonsense_Mutation_p.E29*|TBCA_ENST00000517679.1_Nonsense_Mutation_p.E40*|TBCA_ENST00000522370.1_Nonsense_Mutation_p.E5*|TBCA_ENST00000520361.1_Nonsense_Mutation_p.E29*|TBCA_ENST00000520039.1_Intron			O75347	TBCA_HUMAN	tubulin folding cofactor A	29					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway|tubulin complex assembly	cytoplasm|microtubule	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|ovary(1)	5		all_lung(232;0.000511)|Lung NSC(167;0.000601)|Ovarian(174;0.0105)|Prostate(461;0.214)		OV - Ovarian serous cystadenocarcinoma(54;1.02e-49)|Epithelial(54;1.05e-44)|all cancers(79;4.08e-40)		TGTTTTGCCTCTTTTTCATAC	0.284													A	77004141	C	A	77004141	4	1	364	1	0	0	0	0	0	1	0	0	15729	922	32	4	253	4	TBCA	5	77004141	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	749456	77004141	103911119	4490	27992											
BHMT2	23743	broad.mit.edu	37	chr5	78379191	78379191	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtggatctcccagaatatCcctttggtaagctcaggtgc	8	13	10	10	0	2	1	1	0	1	1	4	2	3	2	2	3	2	2	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78379191C>A	ENST00000255192.3	+	6	841	c.775C>A	c.(775-777)Ccc>Acc	p.P259T	BHMT2_ENST00000521567.1_Missense_Mutation_p.P195T|DMGDH_ENST00000520388.1_Intron	NM_017614.4	NP_060084.2	Q9H2M3	BHMT2_HUMAN	betaine--homocysteine S-methyltransferase 2	259	Hcy-binding.				methionine biosynthetic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding			endometrium(2)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	15		all_lung(232;0.00063)|Lung NSC(167;0.00171)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;2.09e-45)|Epithelial(54;9.3e-41)|all cancers(79;4.09e-36)	L-Methionine(DB00134)	CCCAGAATATCCCTTTGGTAA	0.488													A	78379191	C	A	78379191	3	1	364	1	0	0	0	0	1	0	0	0	1432	855	30	4	797	4	BHMT2	5	78379191	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1375050	78379191	102536069	4491	27993											
JMY	133746	broad.mit.edu	37	chr5	78610358	78610358	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttacctctgaactgccTcccactatatctcttccact	7	14	5	15	0	2	1	0	1	2	0	5	1	4	1	4	1	3	1	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78610358T>C	ENST00000396137.4	+	9	2805	c.2343T>C	c.(2341-2343)ccT>ccC	p.P781P	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	781	Pro-rich.				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	p.P427P(1)|p.P781P(1)		endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		CTGAACTGCCTCCCACTATAT	0.468													C	78610358	T	C	78610358	2	2	364	1	0	0	0	0	0	0	0	1	8015	1538	54	3		3	JMY	5	78610358	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	231167	78610358	102304902	4492	27994											
HOMER1	9456	broad.mit.edu	37	chr5	78693448	78693448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttggctactaacacattCaagttcagtcacctaaaatt	13	13	5	10	0	3	0	3	0	0	0	3	0	3	0	1	1	3	3	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78693448C>T	ENST00000334082.6	-	7	2139	c.697G>A	c.(697-699)Gaa>Aaa	p.E233K	HOMER1_ENST00000508576.1_Intron|HOMER1_ENST00000282260.6_Missense_Mutation_p.E103K|HOMER1_ENST00000535690.1_Missense_Mutation_p.E59K	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	233					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CTAACACATTCAAGTTCAGTC	0.328													T	78693448	C	T	78693448	3	4	364	1	0	0	0	0	1	0	0	0	7333	835	29	2	379	2	HOMER1	5	78693448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83090	78693448	102221812	4493	27995											
PAPD4	167153	broad.mit.edu	37	chr5	78975427	78975427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagtcaaatgatttcagttCgtgaagccaaagccattcca	14	11	7	9	1	2	2	2	2	0	0	4	2	3	2	3	0	2	1	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:78975427C>T	ENST00000453514.1	+	13	1927	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C	PAPD4_ENST00000423041.2_Missense_Mutation_p.R408C|PAPD4_ENST00000504233.1_Missense_Mutation_p.R369C|PAPD4_ENST00000428308.2_Missense_Mutation_p.R412C|PAPD4_ENST00000296783.3_Missense_Mutation_p.R412C	NM_001114394.1	NP_001107866.1	Q6PIY7	GLD2_HUMAN	PAP associated domain containing 4	412	PAP-associated.				histone mRNA catabolic process|mRNA processing|RNA polyadenylation	cytoplasm	ATP binding|metal ion binding|polynucleotide adenylyltransferase activity			biliary_tract(1)|breast(2)|endometrium(4)|kidney(3)|large_intestine(9)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Lung NSC(167;0.00293)|all_lung(232;0.00323)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;8.61e-47)|Epithelial(54;1.32e-41)|all cancers(79;2.45e-36)		GATTTCAGTTCGTGAAGCCAA	0.313													T	78975427	C	T	78975427	3	4	364	1	0	0	0	0	1	0	0	0	11500	884	31	1	1280	1	PAPD4	5	78975427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	281979	78975427	101939833	4494	27996											
THBS4	7060	broad.mit.edu	37	chr5	79355669	79355669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtagagatggcttccagTgtgggccctgccccgagggc	7	7	15	12	1	0	1	0	0	0	1	1	3	1	1	4	3	1	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79355669T>C	ENST00000350881.2	+	7	1118	c.928T>C	c.(928-930)Tgt>Cgt	p.C310R	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.C219R	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	310	EGF-like 1.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGGCTTCCAGTGTGGGCCCTG	0.572													C	79355669	T	C	79355669	3	2	364	1	0	0	0	0	1	0	0	0	15956	1696	59	3	954	3	THBS4	5	79355669	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	380242	79355669	101559591	4495	27997											
THBS4	7060	broad.mit.edu	37	chr5	79357584	79357584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggcttcagatgtgacGcctgcccagtgggcttcaca	6	10	11	14	1	2	2	2	1	0	1	3	2	3	2	3	2	1	2	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79357584G>A	ENST00000350881.2	+	8	1244	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	CTD-2201I18.1_ENST00000503007.1_RNA|THBS4_ENST00000511733.1_Missense_Mutation_p.A261T	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	352	EGF-like 2; calcium-binding (Potential).				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		CAGATGTGACGCCTGCCCAGT	0.498													A	79357584	G	A	79357584	3	1	364	1	0	0	0	0	1	0	0	0	15956	1087	38	1	1084	1	THBS4	5	79357584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1915	79357584	101557676	4496	27998											
SPZ1	84654	broad.mit.edu	37	chr5	79616311	79616311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaagagaagatcacagaaGcaaaagaactttttgaggaa	19	8	10	4	0	1	6	1	2	0	4	1	8	1	7	0	1	2	1	0	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79616311G>T	ENST00000296739.4	+	1	522	c.277G>T	c.(277-279)Gca>Tca	p.A93S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		GATCACAGAAGCAAAAGAACT	0.318													T	79616311	G	T	79616311	3	4	364	1	0	0	0	0	1	0	0	0	15223	971	34	4	279	4	SPZ1	5	79616311	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258727	79616311	101298949	4497	27999											
SPZ1	84654	broad.mit.edu	37	chr5	79617030	79617030	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaatgccaaatcttacaGcagagagtagagattctcaa	17	9	8	7	0	2	3	1	1	2	2	3	5	2	3	1	0	3	2	1	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617030G>A	ENST00000296739.4	+	1	1241	c.996G>A	c.(994-996)caG>caA	p.Q332Q		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	332					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		AAATCTTACAGCAGAGAGTAG	0.418													A	79617030	G	A	79617030	2	1	364	1	0	0	0	0	0	0	0	1	15223	962	34	2		2	SPZ1	5	79617030	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	719	79617030	101298230	4498	28000											
SPZ1	84654	broad.mit.edu	37	chr5	79617181	79617181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataagcagaacaagcaagcaAtgaagggtacattttggaaa	19	7	10	5	0	0	2	0	1	0	1	0	3	0	3	0	2	5	4	0	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79617181A>G	ENST00000296739.4	+	1	1392	c.1147A>G	c.(1147-1149)Atg>Gtg	p.M383V		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		CAAGCAAGCAATGAAGGGTAC	0.363													G	79617181	A	G	79617181	3	3	364	1	0	0	0	0	1	0	0	0	15223	101	4	3	1149	3	SPZ1	5	79617181	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	151	79617181	101298079	4499	28001											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855332	79855332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctatatccacaggaggCatatttaagtattgtttagt	12	15	7	7	0	1	0	0	0	1	0	2	1	2	1	2	2	0	3	2	2	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79855332C>T	ENST00000338682.3	-	5	1179	c.507G>A	c.(505-507)atG>atA	p.M169I		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	169						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		CCACAGGAGGCATATTTAAGT	0.438													T	79855332	C	T	79855332	3	4	364	1	0	0	0	0	1	0	0	0	663	710	25	2	1041	2	ANKRD34B	5	79855332	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238151	79855332	101059928	4500	28002											
MSH3	4437	broad.mit.edu	37	chr5	79952298	79952298	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttaaaaagaaagtaaaGaaagtccaacaaaaggaagg	22	5	9	5	0	0	2	0	0	0	2	1	3	1	3	2	2	1	2	2	2	11	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:79952298G>T	ENST00000265081.6	+	2	386	c.306G>T	c.(304-306)aaG>aaT	p.K102N		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	102	Interaction with EXO1.				maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		AGAAAGTAAAGAAAGTCCAAC	0.408								Mismatch excision repair (MMR)					T	79952298	G	T	79952298	3	4	364	1	0	0	0	0	1	0	0	0	9947	933	33	4	312	4	MSH3	5	79952298	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96966	79952298	100962962	4501	28003											
MSH3	4437	broad.mit.edu	37	chr5	80160632	80160632	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctgtcttattgctttagGtgaaatccttaaccctgttt	8	19	6	8	0	2	1	0	1	2	0	3	1	3	1	2	1	2	2	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80160632G>T	ENST00000265081.6	+	22	3081	c.3001G>T	c.(3001-3003)Gtg>Ttg	p.V1001L		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	1001					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATTGCTTTAGGTGAAATCCTT	0.313								Mismatch excision repair (MMR)					T	80160632	G	T	80160632	5	4	364	1	0	0	0	0	0	0	1	0	9947	1275	44	4	3087	4	MSH3	5	80160632	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208334	80160632	100754628	4502	28004											
RASGRF2	5924	broad.mit.edu	37	chr5	80382721	80382721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccatcgaaagaatgatcGtggagggctgtgacatcttg	10	11	13	7	2	1	3	0	2	1	1	3	5	1	4	1	2	1	1	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80382721G>A	ENST00000265080.4	+	9	1406	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	447					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AAGAATGATCGTGGAGGGCTG	0.507													A	80382721	G	A	80382721	3	1	364	1	0	0	0	0	1	0	0	0	13161	1145	40	1	1373	1	RASGRF2	5	80382721	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222089	80382721	100532539	4503	28005											
CKMT2	1160	broad.mit.edu	37	chr5	80559355	80559355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacctaagactccagaagCgtggcacaggtggtgtggac	13	6	13	9	1	0	2	0	0	0	2	1	3	1	3	2	4	2	1	2	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80559355C>T	ENST00000424301.2	+	10	1298	c.1060C>T	c.(1060-1062)Cgt>Tgt	p.R354C	CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Missense_Mutation_p.R354C|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2-AS1_ENST00000511495.1_RNA|CKMT2-AS1_ENST00000503483.2_RNA|CKMT2_ENST00000437669.1_Missense_Mutation_p.R354C	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	354	Phosphagen kinase C-terminal.				creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	ACTCCAGAAGCGTGGCACAGG	0.453													T	80559355	C	T	80559355	3	4	364	1	0	0	0	0	1	0	0	0	3482	768	27	1	1090	1	CKMT2	5	80559355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176634	80559355	100355905	4504	28006											
SSBP2	23635	broad.mit.edu	37	chr5	80724478	80724478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgcccggttgattacTcaggctcatattattgggag	8	13	13	7	1	2	1	2	1	0	0	2	3	2	3	1	4	2	2	1	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80724478T>C	ENST00000320672.4	-	16	1192	c.982A>G	c.(982-984)Agt>Ggt	p.S328G	SSBP2_ENST00000515395.1_Missense_Mutation_p.S306G|SSBP2_ENST00000514493.1_Missense_Mutation_p.S298G|SSBP2_ENST00000505980.1_Missense_Mutation_p.S308G|SSBP2_ENST00000510060.1_5'UTR|SSBP2_ENST00000509053.1_Intron	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	328					regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		GGTTGATTACTCAGGCTCATA	0.363													C	80724478	T	C	80724478	3	2	364	1	0	0	0	0	1	0	0	0	15276	1551	54	3	111	3	SSBP2	5	80724478	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	165123	80724478	100190782	4505	28007											
SSBP2	23635	broad.mit.edu	37	chr5	80946145	80946145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagcagatattcatataCgtagagtgctaacctggaaa	15	10	10	6	1	1	2	1	0	0	2	1	4	1	4	1	2	4	3	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:80946145C>T	ENST00000320672.4	-	2	286	c.76G>A	c.(76-78)Gta>Ata	p.V26I	SSBP2_ENST00000515395.1_Missense_Mutation_p.V26I|SSBP2_ENST00000514493.1_Missense_Mutation_p.V26I|SSBP2_ENST00000505980.1_Missense_Mutation_p.V26I|SSBP2_ENST00000509053.1_Missense_Mutation_p.V26I	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	26	LisH.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding	p.V26I(1)	SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TATTCATATACGTAGAGTGCT	0.284													T	80946145	C	T	80946145	3	4	364	1	0	0	0	0	1	0	0	0	15276	536	19	1	1073	1	SSBP2	5	80946145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221667	80946145	99969115	4506	28008											
VCAN	1462	broad.mit.edu	37	chr5	82817011	82817011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttatagtagcacccaagaGcctactacttatgtagactc	13	11	7	10	0	0	2	0	0	0	2	1	2	0	2	2	0	4	4	2	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82817011G>T	ENST00000265077.3	+	7	3451	c.2886G>T	c.(2884-2886)gaG>gaT	p.E962D	VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Missense_Mutation_p.E914D|VCAN_ENST00000343200.5_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.E962D	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	962	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		GCACCCAAGAGCCTACTACTT	0.433													T	82817011	G	T	82817011	3	4	364	1	0	0	0	0	1	0	0	0	17240	962	34	4	2908	4	VCAN	5	82817011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1870866	82817011	98098249	4507	28009											
VCAN	1462	broad.mit.edu	37	chr5	82834120	82834120	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtagctacatctagtgaTtcaggtaccaggaaaagttt	14	12	9	6	0	2	1	1	1	1	0	2	2	2	2	1	2	3	4	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82834120T>G	ENST00000265077.3	+	8	5863	c.5298T>G	c.(5296-5298)gaT>gaG	p.D1766E	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.D779E|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1766	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		CATCTAGTGATTCAGGTACCA	0.363													G	82834120	T	G	82834120	3	3	364	1	0	0	0	0	1	0	0	0	17240	1490	52	5	5324	5	VCAN	5	82834120	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17109	82834120	98081140	4508	28010											
VCAN	1462	broad.mit.edu	37	chr5	82835797	82835797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacatctttgaaggtagtggGtcagtaaccagcacaacatt	13	10	10	8	0	2	1	1	1	1	0	2	2	2	1	1	2	3	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82835797G>A	ENST00000265077.3	+	8	7540	c.6975G>A	c.(6973-6975)ggG>ggA	p.G2325G	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Silent_p.G1338G|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2325	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AAGGTAGTGGGTCAGTAACCA	0.443													A	82835797	G	A	82835797	2	1	364	1	0	0	0	0	0	0	0	1	17240	1248	44	2		2	VCAN	5	82835797	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1677	82835797	98079463	4509	28011											
VCAN	1462	broad.mit.edu	37	chr5	82836002	82836002	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagcagaaattaacgaaAcaacaacctcatctactgat	19	7	4	11	1	2	2	1	1	1	1	2	3	2	2	1	0	7	1	1	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82836002A>G	ENST00000265077.3	+	8	7745	c.7180A>G	c.(7180-7182)Aca>Gca	p.T2394A	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.T1407A|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2394	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AATTAACGAAACAACAACCTC	0.383													G	82836002	A	G	82836002	3	3	364	1	0	0	0	0	1	0	0	0	17240	43	2	3	7206	3	VCAN	5	82836002	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	205	82836002	98079258	4510	28012											
VCAN	1462	broad.mit.edu	37	chr5	82837275	82837275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attagcagtttcaacatttgCgaagttgtcttctcagacac	11	14	7	9	1	3	1	2	0	2	1	4	2	3	1	0	0	3	3	0	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:82837275C>T	ENST00000265077.3	+	8	9018	c.8453C>T	c.(8452-8454)gCg>gTg	p.A2818V	VCAN_ENST00000513016.1_3'UTR|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000343200.5_Missense_Mutation_p.A1831V|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000342785.4_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	2818	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TCAACATTTGCGAAGTTGTCT	0.493													T	82837275	C	T	82837275	3	4	364	1	0	0	0	0	1	0	0	0	17240	768	27	1	8479	1	VCAN	5	82837275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1273	82837275	98077985	4511	28013											
EDIL3	10085	broad.mit.edu	37	chr5	83259100	83259100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtaagccagtttgtaggagCcaacaaactgtacatgacca	14	9	9	9	0	0	1	0	1	0	0	0	2	0	2	3	1	5	4	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83259100C>T	ENST00000296591.5	-	10	1635	c.1217G>A	c.(1216-1218)gGc>gAc	p.G406D	EDIL3_ENST00000380138.3_Missense_Mutation_p.G396D	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	406	F5/8 type C 2.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		TTTGTAGGAGCCAACAAACTG	0.378													T	83259100	C	T	83259100	3	4	364	1	0	0	0	0	1	0	0	0	4954	739	26	2	233	2	EDIL3	5	83259100	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421825	83259100	97656160	4512	28014											
EDIL3	10085	broad.mit.edu	37	chr5	83433159	83433159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgcaaggctcaacttcGcattcatttatgtctaagaa	11	16	6	8	1	3	1	2	0	1	1	4	1	3	1	0	1	2	3	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:83433159G>A	ENST00000296591.5	-	5	787	c.369C>T	c.(367-369)tgC>tgT	p.C123C	EDIL3_ENST00000380138.3_Silent_p.C113C	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	123	EGF-like 3.				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		GCTCAACTTCGCATTCATTTA	0.333													A	83433159	G	A	83433159	2	1	364	1	0	0	0	0	0	0	0	1	4954	1079	38	1		1	EDIL3	5	83433159	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174059	83433159	97482101	4513	28015											
RASA1	5921	broad.mit.edu	37	chr5	86627205	86627205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagaacgatagcagaagaaCgcctcaggcaggcagggaag	16	2	14	9	2	1	3	1	0	0	3	1	5	1	4	1	3	3	3	1	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86627205C>T	ENST00000456692.2	+	2	164	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	RASA1_ENST00000274376.6_Missense_Mutation_p.R194C|RASA1_ENST00000506290.1_Missense_Mutation_p.R28C|RASA1_ENST00000512763.1_Missense_Mutation_p.R27C	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	194	Poly-Gly.				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	p.R17C(1)|p.R194C(1)		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)		AGCAGAAGAACGCCTCAGGCA	0.428													T	86627205	C	T	86627205	3	4	364	1	0	0	0	0	1	0	0	0	13148	536	19	1	598	1	RASA1	5	86627205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3194046	86627205	94288055	4514	28016											
CCNH	902	broad.mit.edu	37	chr5	86690887	86690887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttggatttctttgagaCgtaatcatcatcttcatagc	10	17	7	7	1	5	1	3	1	2	1	5	3	5	2	0	1	1	2	0	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86690887C>T	ENST00000508855.1	-	7	737	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	CCNH_ENST00000256897.4_Missense_Mutation_p.V303I|CCNH_ENST00000504878.1_Missense_Mutation_p.V229I			P51946	CCNH_HUMAN	cyclin H	303					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		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;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		TTCTTTGAGACGTAATCATCA	0.313								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					T	86690887	C	T	86690887	3	4	364	1	0	0	0	0	1	0	0	0	2955	536	19	1	72	1	CCNH	5	86690887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63682	86690887	94224373	4515	28017											
CCNH	902	broad.mit.edu	37	chr5	86707051	86707051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaacttaccacaacagatCttggcattgctggcttaaac	12	12	7	10	0	1	1	0	0	1	1	1	1	1	1	1	2	5	4	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:86707051C>T	ENST00000508855.1	-	1	60	c.8G>A	c.(7-9)aGa>aAa	p.R3K	CCNH_ENST00000513499.1_5'UTR|CCNH_ENST00000256897.4_Missense_Mutation_p.R77K|CCNH_ENST00000504878.1_Missense_Mutation_p.R3K			P51946	CCNH_HUMAN	cyclin H	77					G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|S phase of mitotic cell cycle|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	cyclin-dependent protein kinase activating kinase holoenzyme complex|holo TFIIH complex	protein kinase binding	p.R77K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(2)|ovary(2)	15		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;9.01e-39)|Epithelial(54;5.08e-33)|all cancers(79;4.28e-28)		CACAACAGATCTTGGCATTGC	0.383								Direct reversal of damage;Direct reversal of damage;Nucleotide excision repair (NER)					T	86707051	C	T	86707051	3	4	364	1	0	0	0	0	1	0	0	0	2955	913	32	2	773	2	CCNH	5	86707051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16164	86707051	94208209	4516	28018											
GPR98	84059	broad.mit.edu	37	chr5	89939703	89939703	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccattgtcaatataacGattctgaaaaatgatgatcc	15	11	6	9	1	2	3	1	3	1	0	3	4	3	3	3	0	1	0	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89939703G>T	ENST00000405460.2	+	14	2733	c.2637G>T	c.(2635-2637)acG>acT	p.T879T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	879					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAATATAACGATTCTGAAAA	0.403													T	89939703	G	T	89939703	2	4	364	1	0	0	0	0	0	0	0	1	6776	1045	37	4		4	GPR98	5	89939703	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3232652	89939703	90975557	4517	28019											
GPR98	84059	broad.mit.edu	37	chr5	89953850	89953850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaacttcatgccatgcccGcaaaaagtgatttacaccca	14	9	6	12	1	1	2	1	2	0	0	1	2	1	2	3	0	4	1	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89953850G>A	ENST00000405460.2	+	21	4603	c.4507G>A	c.(4507-4509)Gca>Aca	p.A1503T		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1503					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGCCATGCCCGCAAAAAGTGA	0.408													A	89953850	G	A	89953850	3	1	364	1	0	0	0	0	1	0	0	0	6776	1087	38	1	4589	1	GPR98	5	89953850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14147	89953850	90961410	4518	28020											
GPR98	84059	broad.mit.edu	37	chr5	89988577	89988577	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctctggaaagaagttcCtgtgctaatataactgtcag	12	11	10	8	0	2	1	1	0	1	1	3	3	3	2	2	1	3	2	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89988577C>T	ENST00000405460.2	+	32	7203	c.7107C>T	c.(7105-7107)tcC>tcT	p.S2369S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2369					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AAAGAAGTTCCTGTGCTAATA	0.443													T	89988577	C	T	89988577	2	4	364	1	0	0	0	0	0	0	0	1	6776	668	24	2		2	GPR98	5	89988577	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34727	89988577	90926683	4519	28021											
GPR98	84059	broad.mit.edu	37	chr5	89989955	89989955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttcagtgcttctgagggtcCccagtgtttctggatgacat	6	15	11	9	0	3	2	1	2	2	0	4	3	4	3	2	2	1	2	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:89989955C>T	ENST00000405460.2	+	33	7478	c.7382C>T	c.(7381-7383)cCc>cTc	p.P2461L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2461					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCTGAGGGTCCCCAGTGTTTC	0.483													T	89989955	C	T	89989955	3	4	364	1	0	0	0	0	1	0	0	0	6776	623	22	2	7512	2	GPR98	5	89989955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1378	89989955	90925305	4520	28022											
GPR98	84059	broad.mit.edu	37	chr5	90001396	90001396	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagagaatttggatctctaGgtttgtgttactctagaatg	11	15	10	5	0	2	2	0	0	2	2	3	4	2	3	0	2	1	2	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90001396G>T	ENST00000405460.2	+	37	8662	c.8566G>T	c.(8566-8568)Gga>Tga	p.G2856*		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2856					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TGGATCTCTAGGTTTGTGTTA	0.358													T	90001396	G	T	90001396	5	4	364	1	0	0	0	0	0	0	1	0	6776	1014	35	4	8712	4	GPR98	5	90001396	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11441	90001396	90913864	4521	28023											
GPR98	84059	broad.mit.edu	37	chr5	90021442	90021442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagattatttaatcattgCaagtcaaagagatgattccg	15	12	7	7	1	2	3	2	1	0	2	3	4	3	3	2	0	1	1	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90021442C>T	ENST00000405460.2	+	48	10226	c.10130C>T	c.(10129-10131)gCa>gTa	p.A3377V		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3377					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTAATCATTGCAAGTCAAAGA	0.303													T	90021442	C	T	90021442	3	4	364	1	0	0	0	0	1	0	0	0	6776	710	25	2	10320	2	GPR98	5	90021442	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20046	90021442	90893818	4522	28024											
GPR98	84059	broad.mit.edu	37	chr5	90052412	90052412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatgatagaagaaaatgacGatcccagaggaatttttatg	17	11	9	4	1	0	5	0	2	0	3	1	7	1	6	1	1	0	0	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052412G>A	ENST00000405460.2	+	56	11818	c.11722G>A	c.(11722-11724)Gat>Aat	p.D3908N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3908					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AGAAAATGACGATCCCAGAGG	0.443													A	90052412	G	A	90052412	3	1	364	1	0	0	0	0	1	0	0	0	6776	1058	37	1	11944	1	GPR98	5	90052412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30970	90052412	90862848	4523	28025											
GPR98	84059	broad.mit.edu	37	chr5	90052921	90052921	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagcatcaccagacagTgctggcctggaagactttaa	13	8	11	9	0	1	2	1	0	0	2	1	4	1	4	2	3	2	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90052921T>G	ENST00000405460.2	+	57	11979	c.11883T>G	c.(11881-11883)agT>agG	p.S3961R		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	3961					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACCAGACAGTGCTGGCCTGG	0.448													G	90052921	T	G	90052921	3	3	364	1	0	0	0	0	1	0	0	0	6776	1693	59	5	12109	5	GPR98	5	90052921	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	509	90052921	90862339	4524	28026											
GPR98	84059	broad.mit.edu	37	chr5	90074889	90074889	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaggaattttctctaacaAttacaaaggtggaactccag	15	10	8	8	0	1	1	0	0	1	1	3	3	2	3	1	3	3	0	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:90074889A>C	ENST00000405460.2	+	64	13153	c.13057A>C	c.(13057-13059)Att>Ctt	p.I4353L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4353	Calx-beta 29.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTCTCTAACAATTACAAAGGT	0.423													C	90074889	A	C	90074889	3	2	364	1	0	0	0	0	1	0	0	0	6776	101	4	5	13311	5	GPR98	5	90074889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21968	90074889	90840371	4525	28027											
POU5F2	134187	broad.mit.edu	37	chr5	93076611	93076611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctccaggctgtttccgattCgtcgctctctgcttgcccgt	2	15	9	15	4	2	0	0	0	2	0	7	1	3	0	3	1	2	4	3	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076611C>T	ENST00000510627.4	-	1	732	c.659G>A	c.(658-660)cGa>cAa	p.R220Q	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	220						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		GTTTCCGATTCGTCGCTCTCT	0.547													T	93076611	C	T	93076611	3	4	364	1	0	0	0	0	1	0	0	0	12360	884	31	1	331	1	POU5F2	5	93076611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3001722	93076611	87838649	4526	28028											
POU5F2	134187	broad.mit.edu	37	chr5	93076630	93076630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgctctctgcttgcccGtctccacttcccagactgtt	3	14	7	17	3	2	1	0	0	2	1	7	1	3	1	3	0	2	3	3	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076630G>A	ENST00000510627.4	-	1	713	c.640C>T	c.(640-642)Cgg>Tgg	p.R214W	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	214						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTGCTTGCCCGTCTCCACTTC	0.542													A	93076630	G	A	93076630	3	1	364	1	0	0	0	0	1	0	0	0	12360	1144	40	1	350	1	POU5F2	5	93076630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19	93076630	87838630	4527	28029											
POU5F2	134187	broad.mit.edu	37	chr5	93076929	93076929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagatgtcctctggcggcGgcaacttcggaatgctccgc	6	8	13	14	5	1	1	0	0	1	1	4	3	3	2	3	4	2	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93076929G>A	ENST00000510627.4	-	1	414	c.341C>T	c.(340-342)cCg>cTg	p.P114L	FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	114						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		CTCTGGCGGCGGCAACTTCGG	0.627													A	93076929	G	A	93076929	3	1	364	1	0	0	0	0	1	0	0	0	12360	1116	39	1	649	1	POU5F2	5	93076929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	299	93076929	87838331	4528	28030											
FAM172A	83989	broad.mit.edu	37	chr5	93300165	93300165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttaaaatttgacttactgGaatagatacttttttcaaat	14	18	4	5	0	1	2	1	1	0	1	1	3	1	3	0	1	2	0	0	1	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:93300165G>T	ENST00000395965.3	-	5	515	c.373C>A	c.(373-375)Cca>Aca	p.P125T	FAM172A_ENST00000509739.1_Missense_Mutation_p.P42T|FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000509163.1_Missense_Mutation_p.P79T|FAM172A_ENST00000505869.1_Missense_Mutation_p.P79T	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	125						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TGACTTACTGGAATAGATACT	0.269													T	93300165	G	T	93300165	3	4	364	1	0	0	0	0	1	0	0	0	5537	1174	41	4	905	4	FAM172A	5	93300165	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	223236	93300165	87615095	4529	28031											
ANKRD32	84250	broad.mit.edu	37	chr5	94024299	94024299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaataggacagcggccttGttttgactctcagagaacct	12	10	10	9	1	1	2	1	1	1	1	2	5	1	3	2	2	2	1	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94024299G>A	ENST00000265140.5	+	17	2629	c.2210G>A	c.(2209-2211)tGt>tAt	p.C737Y		NM_032290.3	NP_115666.2	Q9BQI6	ANR32_HUMAN	ankyrin repeat domain 32	737										NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|skin(1)	13		all_cancers(142;1.51e-09)|all_epithelial(76;4.68e-12)|all_lung(232;5.94e-05)|Ovarian(174;0.000953)|Lung NSC(167;0.00105)|Colorectal(57;0.122)|Lung SC(612;0.152)		all cancers(79;3.88e-18)		CAGCGGCCTTGTTTTGACTCT	0.428													A	94024299	G	A	94024299	3	1	364	1	0	0	0	0	1	0	0	0	660	1377	48	2	2272	2	ANKRD32	5	94024299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	724134	94024299	86890961	4530	28032											
TTC37	9652	broad.mit.edu	37	chr5	94858910	94858910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caataaggtgccttactcagCcactgcttgagaatgctgac	11	10	9	11	0	1	2	1	2	0	1	1	3	1	2	2	1	5	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94858910C>T	ENST00000358746.2	-	18	2051	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	585							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCTTACTCAGCCACTGCTTGA	0.398													T	94858910	C	T	94858910	3	4	364	1	0	0	0	0	1	0	0	0	16807	739	26	2	3045	2	TTC37	5	94858910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	834611	94858910	86056350	4531	28033											
TTC37	9652	broad.mit.edu	37	chr5	94872782	94872782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaaatgcctataaagtaCttggtgatcttcactaggaa	15	12	8	6	0	2	2	1	2	1	0	2	3	2	3	1	2	2	1	1	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:94872782C>T	ENST00000358746.2	-	9	905	c.607G>A	c.(607-609)Gta>Ata	p.V203I		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	203							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CTATAAAGTACTTGGTGATCT	0.299													T	94872782	C	T	94872782	3	4	364	1	0	0	0	0	1	0	0	0	16807	565	20	2	4227	2	TTC37	5	94872782	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13872	94872782	86042478	4532	28034											
PCSK1	5122	broad.mit.edu	37	chr5	95730650	95730650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacacacgaggctgcttcAtatgctctggctgagaagag	10	10	12	9	1	2	2	1	1	1	2	2	4	2	2	0	2	3	5	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:95730650A>G	ENST00000311106.3	-	13	2039	c.1802T>C	c.(1801-1803)aTg>aCg	p.M601T	CTD-2337A12.1_ENST00000502645.2_RNA|PCSK1_ENST00000508626.1_Missense_Mutation_p.M554T|PCSK1_ENST00000513085.1_5'UTR	NM_000439.4|NM_001177876.1	NP_000430.3|NP_001171347.1	P29120	NEC1_HUMAN	proprotein convertase subtilisin/kexin type 1	601					cell-cell signaling|cellular nitrogen compound metabolic process|energy reserve metabolic process|hormone biosynthetic process|peptide biosynthetic process|peptide hormone processing|regulation of insulin secretion	extracellular space|stored secretory granule|transport vesicle	serine-type endopeptidase activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	36		all_cancers(142;2.67e-06)|all_epithelial(76;6.92e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0112)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;3.44e-16)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGCTGCTTCATATGCTCTGG	0.473													G	95730650	A	G	95730650	3	3	364	1	0	0	0	0	1	0	0	0	11676	217	8	3	467	3	PCSK1	5	95730650	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	857868	95730650	85184610	4533	28035											
LNPEP	4012	broad.mit.edu	37	chr5	96329619	96329619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgacagtaacacttctTcaatggcggatagaaagctg	13	11	10	7	1	2	2	1	1	1	1	2	3	2	3	0	2	2	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96329619T>C	ENST00000231368.5	+	6	2043	c.1351T>C	c.(1351-1353)Tca>Cca	p.S451P	LNPEP_ENST00000395770.3_Missense_Mutation_p.S437P	NM_005575.2	NP_005566.2	Q9UIQ6	LCAP_HUMAN	leucyl/cystinyl aminopeptidase	451					cell-cell signaling|female pregnancy|proteolysis	extracellular region|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	34		all_cancers(142;7e-07)|all_epithelial(76;9.52e-10)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0269)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.072)		TAACACTTCTTCAATGGCGGA	0.468													C	96329619	T	C	96329619	3	2	364	1	0	0	0	0	1	0	0	0	8925	1783	62	3	1373	3	LNPEP	5	96329619	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	598969	96329619	84585641	4534	28036											
LIX1	167410	broad.mit.edu	37	chr5	96443187	96443187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatcccgcctggcctcGgctctacttaagcagcactt	6	10	9	16	2	1	0	0	0	1	0	3	0	2	0	3	2	4	5	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96443187G>A	ENST00000274382.4	-	3	559	c.264C>T	c.(262-264)gcC>gcT	p.A88A	CTD-2215E18.1_ENST00000509481.1_Intron	NM_153234.4	NP_694966.3	Q8N485	LIX1_HUMAN	Lix1 homolog (chicken)	88										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)	10		all_cancers(142;4.28e-07)|all_epithelial(76;1.06e-09)|all_lung(232;0.00101)|Lung NSC(167;0.00137)|Ovarian(225;0.024)|Colorectal(57;0.0318)|Breast(839;0.244)		COAD - Colon adenocarcinoma(37;0.0733)		GCCTGGCCTCGGCTCTACTTA	0.493													A	96443187	G	A	96443187	2	1	364	1	0	0	0	0	0	0	0	1	8892	1103	39	1		1	LIX1	5	96443187	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113568	96443187	84472073	4535	28037											
RIOK2	55781	broad.mit.edu	37	chr5	96504510	96504510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactttcgtagctgaaacGtttcataaagaaatctttaa	14	14	5	8	2	3	2	2	1	1	1	4	2	3	2	0	0	2	3	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96504510G>A	ENST00000283109.3	-	7	894	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RIOK2_ENST00000508447.1_Missense_Mutation_p.R276C|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	276	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		TAGCTGAAACGTTTCATAAAG	0.323													A	96504510	G	A	96504510	3	1	364	1	0	0	0	0	1	0	0	0	13469	1145	40	1	876	1	RIOK2	5	96504510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61323	96504510	84410750	4536	28038											
RIOK2	55781	broad.mit.edu	37	chr5	96514768	96514768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatacttacttttggtacGctcccaagctatgagtttat	12	15	6	8	1	0	1	0	1	0	0	1	1	1	1	1	1	4	4	1	1	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:96514768G>T	ENST00000283109.3	-	2	264	c.196C>A	c.(196-198)Cgt>Agt	p.R66S	RIOK2_ENST00000508447.1_Missense_Mutation_p.R66S|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	66							ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CTTTTGGTACGCTCCCAAGCT	0.393													T	96514768	G	T	96514768	3	4	364	1	0	0	0	0	1	0	0	0	13469	1087	38	4	1526	4	RIOK2	5	96514768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10258	96514768	84400492	4537	28039											
CHD1	1105	broad.mit.edu	37	chr5	98193992	98193992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtaagaatctccctgatgtCggtctttatgatgatcatgg	9	15	10	7	1	3	4	1	3	2	1	5	4	3	4	1	2	0	1	1	2	3	3	rs72775611	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98193992C>T	ENST00000284049.3	-	34	4828	c.4679G>A	c.(4678-4680)cGa>cAa	p.R1560Q		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1560					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TCCCTGATGTCGGTCTTTATG	0.378													T	98193992	C	T	98193992	3	4	364	1	0	0	0	0	1	0	0	0	3353	884	31	1	461	1	CHD1	5	98193992	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1679224	98193992	82721268	4538	28040											
CHD1	1105	broad.mit.edu	37	chr5	98209391	98209391	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaggtctgtttctgacttAtcaactaactcagcatctcg	10	14	6	11	1	5	1	2	1	3	0	6	1	5	1	0	1	3	2	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:98209391A>G	ENST00000284049.3	-	25	3626	c.3477T>C	c.(3475-3477)gaT>gaC	p.D1159D		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	1159					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTCTGACTTATCAACTAACT	0.348													G	98209391	A	G	98209391	2	3	364	1	0	0	0	0	0	0	0	1	3353	446	16	3		3	CHD1	5	98209391	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15399	98209391	82705869	4539	28041											
SLCO4C1	353189	broad.mit.edu	37	chr5	101585411	101585411	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaatattggactccatcTccacagacaggataataata	18	9	6	8	0	1	1	0	0	1	1	3	4	2	3	2	2	0	0	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101585411T>C	ENST00000310954.6	-	9	1837	c.1551A>G	c.(1549-1551)ggA>ggG	p.G517G		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	517	Kazal-like.				cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GGACTCCATCTCCACAGACAG	0.413													C	101585411	T	C	101585411	2	2	364	1	0	0	0	0	0	0	0	1	14824	1538	54	3		3	SLCO4C1	5	101585411	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3376020	101585411	79329849	4540	28042											
SLCO4C1	353189	broad.mit.edu	37	chr5	101592827	101592827	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtatttacccattataTgattcagatacaccagcaaa	16	13	4	8	0	1	2	1	1	0	1	1	2	1	2	2	0	3	2	2	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101592827T>C	ENST00000310954.6	-	8	1747	c.1461A>G	c.(1459-1461)tcA>tcG	p.S487S		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	487					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ACCCATTATATGATTCAGATA	0.338													C	101592827	T	C	101592827	2	2	364	1	0	0	0	0	0	0	0	1	14824	1451	51	3		3	SLCO4C1	5	101592827	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7416	101592827	79322433	4541	28043											
SLCO4C1	353189	broad.mit.edu	37	chr5	101593758	101593758	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgaagaagttgatagaaCtaaacacataaagacagcat	19	9	7	6	0	1	5	0	2	1	3	1	5	1	5	0	0	3	2	0	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101593758C>A	ENST00000310954.6	-	7	1448	c.1162G>T	c.(1162-1164)Gtt>Ttt	p.V388F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	388					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTTGATAGAACTAAACACATA	0.313													A	101593758	C	A	101593758	3	1	364	1	0	0	0	0	1	0	0	0	14824	565	20	4	1040	4	SLCO4C1	5	101593758	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	931	101593758	79321502	4542	28044											
SLCO6A1	133482	broad.mit.edu	37	chr5	101748843	101748843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaggtttcccaacttccCtgttctgtaaaaacaagatt	11	13	7	10	1	1	2	0	1	1	1	3	2	3	2	2	1	2	3	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:101748843C>A	ENST00000506729.1	-	9	1648	c.1477G>T	c.(1477-1479)Ggg>Tgg	p.G493W	SLCO6A1_ENST00000389019.3_Missense_Mutation_p.G431W|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.G493W|SLCO6A1_ENST00000379810.1_Missense_Mutation_p.G240W|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.G240W			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	493						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CCCAACTTCCCTGTTCTGTAA	0.303													A	101748843	C	A	101748843	3	1	364	1	0	0	0	0	1	0	0	0	14826	681	24	4	702	4	SLCO6A1	5	101748843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155085	101748843	79166417	4543	28045											
PAM	5066	broad.mit.edu	37	chr5	102296885	102296885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaatataaagataagattCctttactacagcagccaaaa	19	9	5	8	0	0	3	0	0	0	3	1	3	1	3	2	0	4	1	2	0	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102296885C>T	ENST00000438793.3	+	13	1584	c.1114C>T	c.(1114-1116)Cct>Tct	p.P372S	PAM_ENST00000379787.4_5'UTR|PAM_ENST00000274392.9_Missense_Mutation_p.P275S|PAM_ENST00000346918.2_Missense_Mutation_p.P372S|PAM_ENST00000455264.2_Missense_Mutation_p.P372S|PAM_ENST00000304400.7_Missense_Mutation_p.P372S|PAM_ENST00000348126.2_Missense_Mutation_p.P372S	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	372	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	AGATAAGATTCCTTTACTACA	0.313													T	102296885	C	T	102296885	3	4	364	1	0	0	0	0	1	0	0	0	11488	855	30	2	1164	2	PAM	5	102296885	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	548042	102296885	78618375	4544	28046											
PPIP5K2	23262	broad.mit.edu	37	chr5	102474096	102474096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttttcttcaggagagaagTatatagtattcttcaagctg	11	16	8	6	0	4	1	2	0	2	1	4	3	4	2	0	1	1	3	0	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102474096T>A	ENST00000321521.9	+	5	983	c.410T>A	c.(409-411)gTa>gAa	p.V137E	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V137E|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.V137E|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	137					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGAGAGAAGTATATAGTATT	0.308													A	102474096	T	A	102474096	3	1	364	1	0	0	0	0	1	0	0	0	12415	1638	57	5	424	5	PPIP5K2	5	102474096	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	177211	102474096	78441164	4545	28047											
PPIP5K2	23262	broad.mit.edu	37	chr5	102484967	102484967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaagataccctgttattCtcaatgcacgagagaaatta	16	11	7	7	1	1	2	1	0	1	2	2	4	1	2	1	0	2	3	1	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102484967C>A	ENST00000321521.9	+	8	1429	c.856C>A	c.(856-858)Ctc>Atc	p.L286I	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L286I|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L286I|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	286					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCTGTTATTCTCAATGCACG	0.398													A	102484967	C	A	102484967	3	1	364	1	0	0	0	0	1	0	0	0	12415	913	32	4	882	4	PPIP5K2	5	102484967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10871	102484967	78430293	4546	28048											
PPIP5K2	23262	broad.mit.edu	37	chr5	102503964	102503964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaatggaattatataggCtttcgaaggcattagcagat	15	11	9	6	1	0	1	0	0	0	1	1	3	0	2	0	3	1	3	0	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102503964C>T	ENST00000321521.9	+	19	2824	c.2251C>T	c.(2251-2253)Ctt>Ttt	p.L751F	PPIP5K2_ENST00000414217.1_Missense_Mutation_p.L751F|PPIP5K2_ENST00000358359.3_Missense_Mutation_p.L751F|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	751					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATTATATAGGCTTTCGAAGGC	0.284													T	102503964	C	T	102503964	3	4	364	1	0	0	0	0	1	0	0	0	12415	797	28	2	2321	2	PPIP5K2	5	102503964	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18997	102503964	78411296	4547	28049											
PPIP5K2	23262	broad.mit.edu	37	chr5	102522049	102522049	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgggcctgtttagcacCtcggtgctcgggggttcttc	2	13	15	11	3	1	0	0	0	1	0	4	0	1	0	2	4	3	4	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102522049C>A	ENST00000321521.9	+	27	3771	c.3198C>A	c.(3196-3198)acC>acA	p.T1066T	PPIP5K2_ENST00000414217.1_Silent_p.T1066T|PPIP5K2_ENST00000358359.3_Silent_p.T1066T|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1066					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGTTTAGCACCTCGGTGCTCG	0.493													A	102522049	C	A	102522049	2	1	364	1	0	0	0	0	0	0	0	1	12415	668	24	4		4	PPIP5K2	5	102522049	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18085	102522049	78393211	4548	28050											
NUDT12	83594	broad.mit.edu	37	chr5	102894605	102894605	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctttcaattgcagAagggctggcataggaggatg	9	14	12	6	0	3	1	1	0	2	1	3	3	3	3	0	4	1	3	0	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:102894605A>G	ENST00000230792.2	-	3	867	c.771T>C	c.(769-771)ctT>ctC	p.L257L	NUDT12_ENST00000507423.1_Silent_p.L239L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	257						nucleus|peroxisome	metal ion binding|NAD+ diphosphatase activity			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		TCAATTGCAGAAGGGCTGGCA	0.378													G	102894605	A	G	102894605	2	3	364	1	0	0	0	0	0	0	0	1	10804	233	9	3		3	NUDT12	5	102894605	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	372556	102894605	78020655	4549	28051											
EFNA5	1946	broad.mit.edu	37	chr5	106722938	106722938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctaagcatactaacctGctggttctaatgaattttct	10	17	5	9	0	3	1	0	1	3	0	4	1	3	1	1	1	4	3	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:106722938G>A	ENST00000333274.6	-	4	844	c.563C>T	c.(562-564)gCa>gTa	p.A188V	EFNA5_ENST00000510359.1_5'UTR|EFNA5_ENST00000509503.1_Intron	NM_001962.2	NP_001953.1	P52803	EFNA5_HUMAN	ephrin-A5	188					cell-cell signaling	anchored to plasma membrane|caveola|extracellular space	ephrin receptor binding			large_intestine(6)	6		all_cancers(142;5.15e-06)|all_epithelial(76;4.39e-07)|Prostate(80;0.00726)|Lung NSC(167;0.0736)|Ovarian(225;0.0797)|all_lung(232;0.0854)|Colorectal(57;0.241)		Epithelial(69;1.25e-12)|OV - Ovarian serous cystadenocarcinoma(64;1.32e-11)|BRCA - Breast invasive adenocarcinoma(61;0.0376)|COAD - Colon adenocarcinoma(37;0.109)		ATACTAACCTGCTGGTTCTAA	0.328													A	106722938	G	A	106722938	3	1	364	1	0	0	0	0	1	0	0	0	4993	1319	46	2	131	2	EFNA5	5	106722938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3828333	106722938	74192322	4550	28052											
FBXL17	64839	broad.mit.edu	37	chr5	107216719	107216719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatatgtagaaagcaaacaaCttgatagtcaactcttactt	16	12	6	7	0	2	2	1	1	1	1	2	3	2	2	0	0	5	2	0	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:107216719C>T	ENST00000496714.1	-	7	991	c.790G>A	c.(790-792)Gtt>Att	p.V264I	FBXL17_ENST00000359660.5_Intron|FBXL17_ENST00000542267.1_Intron			Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	665										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		AAGCAAACAACTTGATAGTCA	0.383													T	107216719	C	T	107216719	3	4	364	1	0	0	0	0	1	0	0	0	5762	580	20	2		2	FBXL17	5	107216719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	493781	107216719	73698541	4551	28053											
FER	2241	broad.mit.edu	37	chr5	108134082	108134082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgaattatgtcagcaacGtatccaaggtaagaagaata	19	9	8	5	1	1	3	1	1	0	2	2	3	2	3	1	1	2	3	1	1	10	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108134082G>A	ENST00000281092.4	+	3	583	c.199G>A	c.(199-201)Gta>Ata	p.V67I	FER_ENST00000438717.2_5'UTR|FER_ENST00000502752.1_3'UTR|FER_ENST00000536402.1_Missense_Mutation_p.V67I	NM_005246.2	NP_005237.2	P16591	FER_HUMAN	fer (fps/fes related) tyrosine kinase	67	Important for interaction with membranes containing phosphoinositides.				intracellular signal transduction|peptidyl-tyrosine phosphorylation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			NS(2)|biliary_tract(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	32		all_cancers(142;2.86e-06)|all_epithelial(76;9.81e-08)|Prostate(80;0.00972)|Lung NSC(167;0.039)|Ovarian(225;0.0448)|all_lung(232;0.0496)|Colorectal(57;0.0986)|Breast(839;0.152)		OV - Ovarian serous cystadenocarcinoma(64;6.77e-10)|Epithelial(69;4.13e-08)|COAD - Colon adenocarcinoma(37;0.0174)		TGTCAGCAACGTATCCAAGGT	0.294													A	108134082	G	A	108134082	3	1	364	1	0	0	0	0	1	0	0	0	5862	1145	40	1	201	1	FER	5	108134082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	917363	108134082	72781178	4552	28054											
PJA2	9867	broad.mit.edu	37	chr5	108719214	108719214	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactatggacaagccgcaGaagattcctacaaagaaaca	18	5	7	11	1	0	3	0	0	0	3	1	4	1	4	2	1	3	1	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:108719214G>T	ENST00000361189.2	-	0	160				PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_De_novo_Start_OutOfFrame	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase						long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		acaagccgcagaagattccta	0.338													T	108719214	G	T	108719214	1	4	364	1	0	0	0	0	0	0	0	0	12039	957	33	4		4	PJA2	5	108719214	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	585132	108719214	72196046	4553	28055											
MAN2A1	4124	broad.mit.edu	37	chr5	109117137	109117137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttttttgatgcgctggAtaaagcagatgaaactcaga	14	12	10	5	1	1	5	1	2	0	3	1	6	1	6	0	1	3	2	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109117137A>G	ENST00000261483.4	+	9	2467	c.1415A>G	c.(1414-1416)gAt>gGt	p.D472G		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	472					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		GATGCGCTGGATAAAGCAGAT	0.333													G	109117137	A	G	109117137	3	3	364	1	0	0	0	0	1	0	0	0	9289	333	12	3	1449	3	MAN2A1	5	109117137	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	397923	109117137	71798123	4554	28056											
MAN2A1	4124	broad.mit.edu	37	chr5	109159458	109159458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccgccctttgtcagagTgacacatggaaggatttatt	12	11	9	9	1	1	2	1	1	0	1	1	4	1	4	2	2	1	0	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109159458T>C	ENST00000261483.4	+	16	3538	c.2486T>C	c.(2485-2487)gTg>gCg	p.V829A		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	829					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		TTTGTCAGAGTGACACATGGA	0.338													C	109159458	T	C	109159458	3	2	364	1	0	0	0	0	1	0	0	0	9289	1696	59	3	2548	3	MAN2A1	5	109159458	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42321	109159458	71755802	4555	28057											
MAN2A1	4124	broad.mit.edu	37	chr5	109183481	109183481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actactagaaaaaagaagtgCtgttaatacggtatgaaaaa	20	9	8	4	1	0	3	0	1	0	2	0	3	0	3	0	1	3	3	0	1	11	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:109183481C>T	ENST00000261483.4	+	19	4018	c.2966C>T	c.(2965-2967)gCt>gTt	p.A989V		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	989					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		AAAAGAAGTGCTGTTAATACG	0.323													T	109183481	C	T	109183481	3	4	364	1	0	0	0	0	1	0	0	0	9289	797	28	2	3040	2	MAN2A1	5	109183481	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24023	109183481	71731779	4556	28058											
SLC25A46	91137	broad.mit.edu	37	chr5	110082040	110082040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattatgtacagtttcaacaAaactcaggtgagaattttgt	14	15	7	5	0	2	1	2	1	0	1	2	2	2	1	0	1	3	2	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110082040A>C	ENST00000355943.3	+	4	581	c.455A>C	c.(454-456)aAa>aCa	p.K152T	SLC25A46_ENST00000513807.1_5'UTR|SLC25A46_ENST00000504098.1_Missense_Mutation_p.K6T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.K61T|SLC25A46_ENST00000447245.2_Missense_Mutation_p.K152T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	152					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AGTTTCAACAAAACTCAGGTG	0.289													C	110082040	A	C	110082040	3	2	364	1	0	0	0	0	1	0	0	0	14605	14	1	5	469	5	SLC25A46	5	110082040	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	898559	110082040	70833220	4557	28059											
SLC25A46	91137	broad.mit.edu	37	chr5	110092436	110092436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaatgcctttttattcaGcaagtctgattgaaacagtg	11	14	9	7	0	2	2	1	2	1	0	2	2	2	2	1	1	3	2	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110092436G>A	ENST00000355943.3	+	7	781	c.655G>A	c.(655-657)Gca>Aca	p.A219T	SLC25A46_ENST00000513807.1_Missense_Mutation_p.A57T|SLC25A46_ENST00000504098.1_Missense_Mutation_p.A73T|SLC25A46_ENST00000509442.2_Missense_Mutation_p.A128T|SLC25A46_ENST00000509432.1_Missense_Mutation_p.A6T|SLC25A46_ENST00000513706.1_3'UTR|SLC25A46_ENST00000447245.2_Missense_Mutation_p.A219T	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	219					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		TTTTTATTCAGCAAGTCTGAT	0.264													A	110092436	G	A	110092436	3	1	364	1	0	0	0	0	1	0	0	0	14605	971	34	2	681	2	SLC25A46	5	110092436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10396	110092436	70822824	4558	28060											
WDR36	134430	broad.mit.edu	37	chr5	110428061	110428061	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggtgttgtgtctgcagctCtggcagaggactgttccact	5	12	14	10	1	2	1	0	0	2	1	3	2	3	2	1	3	2	5	1	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110428061C>T	ENST00000506538.2	+	1	648	c.75C>T	c.(73-75)ctC>ctT	p.L25L	WDR36_ENST00000505303.1_5'UTR|WDR36_ENST00000513710.2_Silent_p.L25L	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	25			L -> P (possible disease-susceptibility mutation).		response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GTCTGCAGCTCTGGCAGAGGA	0.587													T	110428061	C	T	110428061	2	4	364	1	0	0	0	0	0	0	0	1	17392	900	32	2		2	WDR36	5	110428061	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335625	110428061	70487199	4559	28061											
WDR36	134430	broad.mit.edu	37	chr5	110441018	110441018	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatggaactcttcagtcatTttccacggtacatgaaaaat	14	12	7	8	1	3	2	2	1	1	1	4	3	4	3	1	2	2	1	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110441018T>G	ENST00000506538.2	+	10	1793	c.1220T>G	c.(1219-1221)tTt>tGt	p.F407C	WDR36_ENST00000505303.1_Missense_Mutation_p.F351C|WDR36_ENST00000513710.2_Missense_Mutation_p.F407C	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	407					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		CTTCAGTCATTTTCCACGGTA	0.348													G	110441018	T	G	110441018	3	3	364	1	0	0	0	0	1	0	0	0	17392	1841	64	5	1258	5	WDR36	5	110441018	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12957	110441018	70474242	4560	28062											
WDR36	134430	broad.mit.edu	37	chr5	110448783	110448783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttaaaggcttttagtcCtgatggtcgttggttaataa	11	17	9	4	1	0	1	0	1	0	0	2	1	1	1	1	3	0	3	1	3	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110448783C>A	ENST00000506538.2	+	16	2468	c.1895C>A	c.(1894-1896)cCt>cAt	p.P632H	WDR36_ENST00000513710.2_Missense_Mutation_p.P632H	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	632					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		GCTTTTAGTCCTGATGGTCGT	0.274													A	110448783	C	A	110448783	3	1	364	1	0	0	0	0	1	0	0	0	17392	681	24	4	1957	4	WDR36	5	110448783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7765	110448783	70466477	4561	28063											
WDR36	134430	broad.mit.edu	37	chr5	110461365	110461365	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaattgaaacagagctgCgaagcttgtctcctgattgt	11	11	11	8	1	1	3	0	2	1	1	2	5	1	4	1	1	4	2	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110461365C>T	ENST00000506538.2	+	22	3151	c.2578C>T	c.(2578-2580)Cga>Tga	p.R860*	WDR36_ENST00000513710.2_Nonsense_Mutation_p.R860*	NM_139281.2	NP_644810.1	Q8NI36	WDR36_HUMAN	WD repeat domain 36	860					response to stimulus|rRNA processing|visual perception	small-subunit processome				cervix(1)|endometrium(9)|kidney(4)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.72e-05)|all_epithelial(76;4.4e-07)|Prostate(80;0.00955)|Lung NSC(167;0.0418)|Ovarian(225;0.0443)|Colorectal(57;0.0465)|all_lung(232;0.0508)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;1.39e-08)|Epithelial(69;1.82e-07)|all cancers(49;2.04e-05)|COAD - Colon adenocarcinoma(37;0.111)		AACAGAGCTGCGAAGCTTGTC	0.408													T	110461365	C	T	110461365	4	4	364	1	0	0	0	0	0	1	0	0	17392	760	27	1	2664	1	WDR36	5	110461365	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12582	110461365	70453895	4562	28064											
CAMK4	814	broad.mit.edu	37	chr5	110784900	110784900	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggaaccccagggtactgCggtatgctctttaataatta	10	13	10	8	1	1	0	0	0	1	0	1	1	1	1	2	3	4	3	2	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110784900C>T	ENST00000282356.4	+	7	1022	c.624C>T	c.(622-624)tgC>tgT	p.C208C	CAMK4_ENST00000512453.1_Splice_Site_p.C208C	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	208	Protein kinase.				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.C208C(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		CAGGGTACTGCGGTATGCTCT	0.274													T	110784900	C	T	110784900	5	4	364	1	0	0	0	0	0	0	1	0	2631	782	27	1	650	1	CAMK4	5	110784900	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323535	110784900	70130360	4563	28065											
CAMK4	814	broad.mit.edu	37	chr5	110819737	110819737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcaggcagcggtgaaggCtgtggtggcctcttcgcgcc	6	8	15	12	3	2	1	1	1	1	0	3	1	2	1	2	5	1	2	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:110819737C>T	ENST00000282356.4	+	11	1393	c.995C>T	c.(994-996)gCt>gTt	p.A332V	CAMK4_ENST00000512890.1_3'UTR|CAMK4_ENST00000512453.1_Missense_Mutation_p.A332V	NM_001744.4	NP_001735.1	Q16566	KCC4_HUMAN	calcium/calmodulin-dependent protein kinase IV	332	Calmodulin-binding (Potential).				activation of phospholipase C activity|nerve growth factor receptor signaling pathway|synaptic transmission	cytosol|nucleoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	30		all_cancers(142;1.49e-05)|all_epithelial(76;1.82e-07)|Prostate(80;0.00964)|all_lung(232;0.0181)|Lung NSC(167;0.0298)|Ovarian(225;0.0446)|Colorectal(57;0.0478)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;3.79e-08)|Epithelial(69;5.29e-08)|all cancers(49;1.1e-05)|COAD - Colon adenocarcinoma(37;0.109)		GCGGTGAAGGCTGTGGTGGCC	0.557													T	110819737	C	T	110819737	3	4	364	1	0	0	0	0	1	0	0	0	2631	797	28	2	1037	2	CAMK4	5	110819737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34837	110819737	70095523	4564	28066											
EPB41L4A	64097	broad.mit.edu	37	chr5	111570340	111570340	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacttaccagctggctGtgtttgtgctattcgcttag	6	15	10	10	1	0	1	0	1	0	0	1	1	0	1	2	1	3	5	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111570340G>A	ENST00000261486.5	-	12	1354	c.1078C>T	c.(1078-1080)Cag>Tag	p.Q360*	RP11-526F3.1_ENST00000504004.1_RNA	NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	360						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CCAGCTGGCTGTGTTTGTGCT	0.433													A	111570340	G	A	111570340	4	1	364	1	0	0	0	0	0	1	0	0	5196	1386	48	2	1030	2	EPB41L4A	5	111570340	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	750603	111570340	69344920	4565	28067											
EPB41L4A	64097	broad.mit.edu	37	chr5	111595639	111595639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtacacaacaacaccaaccGgagttaatcctaagaaatac	18	7	5	11	1	0	1	0	0	0	1	1	2	1	2	3	1	5	2	3	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111595639G>A	ENST00000261486.5	-	8	956	c.680C>T	c.(679-681)cCg>cTg	p.P227L		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	227	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		AACACCAACCGGAGTTAATCC	0.363													A	111595639	G	A	111595639	3	1	364	1	0	0	0	0	1	0	0	0	5196	1116	39	1	1444	1	EPB41L4A	5	111595639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25299	111595639	69319621	4566	28068											
EPB41L4A	64097	broad.mit.edu	37	chr5	111643154	111643154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggtttacgtgatggaataCgtggtcaaggacaacggaac	14	8	13	6	3	1	1	1	1	0	0	1	4	1	4	0	5	4	1	0	5	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:111643154C>T	ENST00000261486.5	-	2	409	c.133G>A	c.(133-135)Gta>Ata	p.V45I		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	45	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		TGATGGAATACGTGGTCAAGG	0.383													T	111643154	C	T	111643154	3	4	364	1	0	0	0	0	1	0	0	0	5196	536	19	1	2015	1	EPB41L4A	5	111643154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47515	111643154	69272106	4567	28069											
APC	324	broad.mit.edu	37	chr5	112173300	112173300	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactttattacaacacttaaAatctcatagtttgacaatag	17	14	3	7	0	1	1	1	1	1	0	2	1	1	1	0	0	3	1	0	0	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112173300A>C	ENST00000457016.1	+	16	2389	c.2009A>C	c.(2008-2010)aAa>aCa	p.K670T	APC_ENST00000508376.2_Missense_Mutation_p.K670T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.K670T			P25054	APC_HUMAN	adenomatous polyposis coli	670	Leu-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CAACACTTAAAATCTCATAGT	0.368		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			C	112173300	A	C	112173300	3	2	364	1	0	0	0	0	1	0	0	0	765	14	1	5	2067	5	APC	5	112173300	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	530146	112173300	68741960	4568	28070											
APC	324	broad.mit.edu	37	chr5	112176148	112176148	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtacaaacttctaccAtcacaaaacaggttgcaacc	14	9	5	13	0	2	0	1	0	1	0	2	0	2	0	3	1	6	3	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112176148A>G	ENST00000457016.1	+	16	5237	c.4857A>G	c.(4855-4857)ccA>ccG	p.P1619P	APC_ENST00000508376.2_Silent_p.P1619P|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.P1619P			P25054	APC_HUMAN	adenomatous polyposis coli	1619	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		AACTTCTACCATCACAAAACA	0.453		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			G	112176148	A	G	112176148	2	3	364	1	0	0	0	0	0	0	0	1	765	204	8	3		3	APC	5	112176148	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2848	112176148	68739112	4569	28071											
MCC	4163	broad.mit.edu	37	chr5	112406886	112406886	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttacattcctccaaGgttatggtcaggaggtcatt	8	16	9	8	0	2	0	2	0	0	0	4	1	4	1	2	4	2	2	2	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406886G>T	ENST00000302475.4	-	10	1823	c.1260C>A	c.(1258-1260)acC>acA	p.T420T	MCC_ENST00000515367.2_Silent_p.T357T|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.T610T	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	420					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		ATTCCTCCAAGGTTATGGTCA	0.463													T	112406886	G	T	112406886	2	4	364	1	0	0	0	0	0	0	0	1	9448	987	35	4		4	MCC	5	112406886	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230738	112406886	68508374	4570	28072											
MCC	4163	broad.mit.edu	37	chr5	112406897	112406897	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctccaaggttatggtcaGgaggtcattttgggatttga	8	15	12	6	0	2	1	2	1	0	0	4	3	4	3	2	5	0	1	2	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112406897G>T	ENST00000302475.4	-	10	1812	c.1249C>A	c.(1249-1251)Ctg>Atg	p.L417M	MCC_ENST00000515367.2_Missense_Mutation_p.L354M|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Missense_Mutation_p.L607M	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	417					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GTTATGGTCAGGAGGTCATTT	0.453													T	112406897	G	T	112406897	3	4	364	1	0	0	0	0	1	0	0	0	9448	991	35	4	1272	4	MCC	5	112406897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	112406897	68508363	4571	28073											
MCC	4163	broad.mit.edu	37	chr5	112418619	112418619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgagatggcagatccGtgtgagtagagtgtttggaa	9	13	14	5	1	1	4	0	2	1	3	2	6	2	5	1	2	0	3	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112418619G>A	ENST00000302475.4	-	9	1715	c.1152C>T	c.(1150-1152)caC>caT	p.H384H	MCC_ENST00000515367.2_Silent_p.H321H|MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.H574H	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	384					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TGGCAGATCCGTGTGAGTAGA	0.483													A	112418619	G	A	112418619	2	1	364	1	0	0	0	0	0	0	0	1	9448	1136	40	1		1	MCC	5	112418619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11722	112418619	68496641	4572	28074											
YTHDC2	64848	broad.mit.edu	37	chr5	112926833	112926833	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaatttctcaacagaaGggtatctggtctacaactcc	12	12	7	10	0	3	2	1	1	3	1	5	2	4	2	1	2	3	1	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112926833G>T	ENST00000161863.4	+	27	4134	c.3921G>T	c.(3919-3921)aaG>aaT	p.K1307N		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1307	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		CTCAACAGAAGGGTATCTGGT	0.403													T	112926833	G	T	112926833	3	4	364	1	0	0	0	0	1	0	0	0	17599	991	35	4	4027	4	YTHDC2	5	112926833	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508214	112926833	67988427	4573	28075											
YTHDC2	64848	broad.mit.edu	37	chr5	112927863	112927863	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagtgcagataagCagggatgggcaggtatacaa	18	5	13	5	0	0	2	0	0	0	2	0	3	0	3	0	3	4	4	0	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:112927863C>T	ENST00000161863.4	+	28	4413	c.4200C>T	c.(4198-4200)agC>agT	p.S1400S		NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	1400	YTH.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		TGCAGATAAGCAGGGATGGGC	0.358													T	112927863	C	T	112927863	2	4	364	1	0	0	0	0	0	0	0	1	17599	709	25	2		2	YTHDC2	5	112927863	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1030	112927863	67987397	4574	28076											
KCNN2	3781	broad.mit.edu	37	chr5	113831667	113831667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagaagaggattgttaccCtggaaacaaaactagagact	16	8	10	7	1	0	3	0	0	0	3	1	7	0	5	1	2	3	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:113831667C>A	ENST00000512097.3	+	9	2546	c.1528C>A	c.(1528-1530)Ctg>Atg	p.L510M	KCNN2_ENST00000503706.1_Missense_Mutation_p.L162M|KCNN2_ENST00000264773.3_Missense_Mutation_p.L510M|RP11-492A10.1_ENST00000514115.1_RNA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	510						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		GATTGTTACCCTGGAAACAAA	0.448													A	113831667	C	A	113831667	3	1	364	1	0	0	0	0	1	0	0	0	8137	680	24	4	1558	4	KCNN2	5	113831667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	903804	113831667	67083593	4575	28077											
PGGT1B	5229	broad.mit.edu	37	chr5	114573601	114573601	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccgctaagcaagcttCtttatttactcggcttaagt	10	13	7	11	2	1	0	0	0	1	0	2	0	1	0	1	1	4	4	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114573601C>A	ENST00000419445.1	-	4	453	c.433G>T	c.(433-435)Gaa>Taa	p.E145*	PGGT1B_ENST00000379615.3_Nonsense_Mutation_p.E145*	NM_005023.3	NP_005014.2	P53609	PGTB1_HUMAN	protein geranylgeranyltransferase type I, beta subunit	145					protein geranylgeranylation	CAAX-protein geranylgeranyltransferase complex	CAAX-protein geranylgeranyltransferase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(1)	6		all_cancers(142;0.000523)|all_epithelial(76;6.45e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		Epithelial(69;2.95e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.98e-08)|all cancers(49;3.1e-06)	Pravastatin(DB00175)	AAGCAAGCTTCTTTATTTACT	0.408													A	114573601	C	A	114573601	4	1	364	1	0	0	0	0	0	1	0	0	11866	922	32	4	724	4	PGGT1B	5	114573601	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	741934	114573601	66341659	4576	28078											
CCDC112	153733	broad.mit.edu	37	chr5	114604589	114604589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttcttacctatgtgggaTatgtagaagtggcccagagc	9	13	11	8	0	2	2	0	0	2	2	2	3	2	3	2	2	2	1	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114604589T>C	ENST00000379611.5	-	9	1824	c.1537A>G	c.(1537-1539)Atc>Gtc	p.I513V	CCDC112_ENST00000512261.1_Missense_Mutation_p.I430V|CCDC112_ENST00000395557.4_Missense_Mutation_p.I430V|CCDC112_ENST00000506442.1_Missense_Mutation_p.I398V	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	430										endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		CTATGTGGGATATGTAGAAGT	0.353													C	114604589	T	C	114604589	3	2	364	1	0	0	0	0	1	0	0	0	2775	1406	49	3	60	3	CCDC112	5	114604589	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30988	114604589	66310671	4577	28079											
CCDC112	153733	broad.mit.edu	37	chr5	114610915	114610916	+	Frame_Shift_Ins	INS	-	-	T																															gctattataattattacctcINStttttttctttcttctagag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114610915_114610916insT	ENST00000379611.5	-	6	1202_1203	c.915_916insA	c.(913-918)aaagagfs	p.E306fs	CCDC112_ENST00000506442.1_Frame_Shift_Ins_p.E223fs|CCDC112_ENST00000512261.1_Frame_Shift_Ins_p.E223fs|CCDC112_ENST00000395557.4_Frame_Shift_Ins_p.E223fs	NM_001040440.2	NP_001035530.1	Q8NEF3	CC112_HUMAN	coiled-coil domain containing 112	223								p.E306fs*20(1)		endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|skin(1)	20		all_cancers(142;0.000523)|all_epithelial(76;6.44e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;4.09e-08)|Epithelial(69;5.28e-08)|all cancers(49;7.06e-06)		ATTATTACCTCTTTTTTTCTTT	0.332													T	114610916	-	T	114610915	7	5	364	1	0	1	1	0	0	0	0	0	2775	922	32	0	693	0	CCDC112	5	114610915	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	6326	114610915	66304345	4578	28080											
FEM1C	56929	broad.mit.edu	37	chr5	114860793	114860793	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccataggttgatgcatcGtttgaaatttccagagtctg	9	15	9	8	1	1	3	0	2	1	1	4	3	3	3	2	1	1	3	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:114860793G>A	ENST00000274457.3	-	3	1627	c.1066C>T	c.(1066-1068)Cga>Tga	p.R356*		NM_020177.2	NP_064562.1	Q96JP0	FEM1C_HUMAN	fem-1 homolog c (C. elegans)	356						cytoplasm				breast(5)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	18		all_cancers(142;0.000575)|all_epithelial(76;9.98e-06)|Prostate(80;0.00955)|Ovarian(225;0.0443)|all_lung(232;0.132)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;2.5e-07)|Epithelial(69;2.66e-07)|all cancers(49;1.39e-05)		TTGATGCATCGTTTGAAATTT	0.403													A	114860793	G	A	114860793	4	1	364	1	0	0	0	0	0	1	0	0	5860	1153	40	1	791	1	FEM1C	5	114860793	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249878	114860793	66054467	4579	28081											
SEMA6A	57556	broad.mit.edu	37	chr5	115783357	115783357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccttgcgctgcaccacaGccacgtctttgcgccgatga	6	10	9	16	4	2	1	0	1	2	0	3	2	2	1	4	0	4	2	4	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115783357G>A	ENST00000343348.6	-	19	2832	c.2045C>T	c.(2044-2046)gCt>gTt	p.A682V	SEMA6A_ENST00000503865.1_Missense_Mutation_p.A61V|SEMA6A_ENST00000282394.6_Missense_Mutation_p.A159V|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.A109V|CTB-118N6.3_ENST00000512128.1_RNA|SEMA6A_ENST00000510263.1_Missense_Mutation_p.A682V|SEMA6A_ENST00000257414.8_Missense_Mutation_p.A699V	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	682					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		CTGCACCACAGCCACGTCTTT	0.607													A	115783357	G	A	115783357	3	1	364	1	0	0	0	0	1	0	0	0	14132	971	34	2	1051	2	SEMA6A	5	115783357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	922564	115783357	65131903	4580	28082											
SEMA6A	57556	broad.mit.edu	37	chr5	115837950	115837950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcatgatcataatcatctgGatgtccagcctgtgcctctg	8	14	8	11	0	5	1	3	1	2	0	6	2	6	2	3	1	2	0	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:115837950G>A	ENST00000343348.6	-	3	961	c.174C>T	c.(172-174)atC>atT	p.I58I	SEMA6A_ENST00000503962.1_5'UTR|SEMA6A_ENST00000510263.1_Silent_p.I58I|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Silent_p.I58I	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	58	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TAATCATCTGGATGTCCAGCC	0.507													A	115837950	G	A	115837950	2	1	364	1	0	0	0	0	0	0	0	1	14132	1164	41	2		2	SEMA6A	5	115837950	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54593	115837950	65077310	4581	28083											
DTWD2	285605	broad.mit.edu	37	chr5	118264322	118264322	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatgattgtagaaggataAacaggagaatctaatataaa	20	10	9	2	0	1	4	0	2	1	2	1	6	1	5	0	2	1	1	0	2	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118264322A>G	ENST00000304058.4	-	4	379	c.309T>C	c.(307-309)gtT>gtC	p.V103V	DTWD2_ENST00000510708.1_Silent_p.V169V|DTWD2_ENST00000515439.3_Intron			Q8NBA8	DTWD2_HUMAN	DTW domain containing 2	169										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)	13		all_epithelial(76;0.0982)|Prostate(80;0.121)		OV - Ovarian serous cystadenocarcinoma(64;0.000228)|Epithelial(69;0.000941)|all cancers(49;0.00939)		TAGAAGGATAAACAGGAGAAT	0.383													G	118264322	A	G	118264322	2	3	364	1	0	0	0	0	0	0	0	1	4831	1	1	3		3	DTWD2	5	118264322	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2426372	118264322	62650938	4582	28084											
DMXL1	1657	broad.mit.edu	37	chr5	118484689	118484689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagctgtgcacatacaaatcGtttagcagtagcttataagc	13	12	8	8	1	0	0	0	0	0	0	1	0	0	0	0	0	6	6	0	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484689G>A	ENST00000311085.8	+	18	3247	c.3167G>A	c.(3166-3168)cGt>cAt	p.R1056H	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1056H	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1056										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATACAAATCGTTTAGCAGTA	0.403													A	118484689	G	A	118484689	3	1	364	1	0	0	0	0	1	0	0	0	4633	1145	40	1	3237	1	DMXL1	5	118484689	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220367	118484689	62430571	4583	28085											
DMXL1	1657	broad.mit.edu	37	chr5	118484954	118484954	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catttagttcacttagattgGatgtctagagaagacggttc	11	14	10	6	1	2	3	1	0	1	3	3	5	2	4	0	2	0	2	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118484954G>A	ENST00000311085.8	+	18	3512	c.3432G>A	c.(3430-3432)tgG>tgA	p.W1144*	DMXL1_ENST00000539542.1_Nonsense_Mutation_p.W1144*	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1144										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ACTTAGATTGGATGTCTAGAG	0.368													A	118484954	G	A	118484954	4	1	364	1	0	0	0	0	0	1	0	0	4633	1183	41	2	3502	2	DMXL1	5	118484954	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	265	118484954	62430306	4584	28086											
DMXL1	1657	broad.mit.edu	37	chr5	118500881	118500881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattttttgattataggtaGctaaagcagccttttataga	13	17	7	4	0	0	2	0	1	0	1	0	2	0	2	1	1	3	3	1	1	8	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500881G>T	ENST00000311085.8	+	21	4956	c.4876G>T	c.(4876-4878)Gct>Tct	p.A1626S	DMXL1_ENST00000539542.1_Missense_Mutation_p.A1626S	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1626										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		ATTATAGGTAGCTAAAGCAGC	0.313													T	118500881	G	T	118500881	3	4	364	1	0	0	0	0	1	0	0	0	4633	971	34	4	4958	4	DMXL1	5	118500881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15927	118500881	62414379	4585	28087											
DMXL1	1657	broad.mit.edu	37	chr5	118500926	118500927	+	Frame_Shift_Ins	INS	-	-	T																															tgatcctttagatgctgccaINSttttttaccttgcaatgaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500926_118500927insT	ENST00000311085.8	+	21	5001_5002	c.4921_4922insT	c.(4921-4923)attfs	p.I1641fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.I1641fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1641										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AGATGCTGCCATTTTTTACCTT	0.302													T	118500927	-	T	118500926	7	5	364	1	0	1	1	0	0	0	0	0	4633	217	8	0	5003	0	DMXL1	5	118500926	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	45	118500926	62414334	4586	28088											
DMXL1	1657	broad.mit.edu	37	chr5	118500956	118500956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaatgaaaaagaaagctGtgatttggggattatatagg	15	12	12	2	0	0	3	0	2	0	1	0	4	0	4	0	3	2	2	0	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118500956G>A	ENST00000311085.8	+	21	5031	c.4951G>A	c.(4951-4953)Gtg>Atg	p.V1651M	DMXL1_ENST00000539542.1_Missense_Mutation_p.V1651M	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1651										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAAGAAAGCTGTGATTTGGGG	0.299													A	118500956	G	A	118500956	3	1	364	1	0	0	0	0	1	0	0	0	4633	1377	48	2	5033	2	DMXL1	5	118500956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	118500956	62414304	4587	28089											
DMXL1	1657	broad.mit.edu	37	chr5	118502316	118502316	+	Frame_Shift_Del	DEL	A	A	-																															ttttttcctttatagagctgAaaaaaacaccaggatgacac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118502316delA	ENST00000311085.8	+	22	5056	c.4976delA	c.(4975-4977)gaafs	p.E1659fs	DMXL1_ENST00000539542.1_Frame_Shift_Del_p.E1659fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TATAGAGCTGAAAAAAACACC	0.318													-	118502316	A	-	118502316	7	5	364	1	0	1	0	1	0	0	0	0	4633	246	9	0	5062	0	DMXL1	5	118502316	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1360	118502316	62412944	4588	28090											
DMXL1	1657	broad.mit.edu	37	chr5	118503347	118503347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggctcttgtaatagcaaGactctatgagtctgaatttg	10	15	10	6	0	3	3	0	2	3	1	3	3	3	3	0	1	1	4	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118503347G>A	ENST00000311085.8	+	23	5266	c.5186G>A	c.(5185-5187)aGa>aAa	p.R1729K	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1729K	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1729										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GTAATAGCAAGACTCTATGAG	0.318													A	118503347	G	A	118503347	3	1	364	1	0	0	0	0	1	0	0	0	4633	942	33	2	5276	2	DMXL1	5	118503347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1031	118503347	62411913	4589	28091											
DMXL1	1657	broad.mit.edu	37	chr5	118506838	118506839	+	Frame_Shift_Ins	INS	-	-	A																															actgagagaaaattttcaggINSaaaaaagacagtggctcttg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118506838_118506839insA	ENST00000311085.8	+	24	6432_6433	c.6352_6353insA	c.(6352-6354)gaafs	p.E2118fs	DMXL1_ENST00000539542.1_Frame_Shift_Ins_p.E2118fs	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2118										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		AAATTTTCAGGAAAAAAGACAG	0.386													A	118506839	-	A	118506838	7	5	364	1	0	1	1	0	0	0	0	0	4633	1175	41	0	6446	0	DMXL1	5	118506838	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3491	118506838	62408422	4590	28092											
DMXL1	1657	broad.mit.edu	37	chr5	118556191	118556191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaaactgcatagcaatcGcttccagtcatgatgttcaa	14	11	7	9	1	2	2	2	1	0	1	4	2	3	2	1	0	3	4	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556191G>A	ENST00000311085.8	+	35	8055	c.7975G>A	c.(7975-7977)Gct>Act	p.A2659T	DMXL1_ENST00000539542.1_Missense_Mutation_p.A2680T|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2659										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		CATAGCAATCGCTTCCAGTCA	0.373													A	118556191	G	A	118556191	3	1	364	1	0	0	0	0	1	0	0	0	4633	1087	38	1	8113	1	DMXL1	5	118556191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49353	118556191	62359069	4591	28093											
DMXL1	1657	broad.mit.edu	37	chr5	118556656	118556656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaagatttcttggttatAcatgctcgtgatgatttaac	11	16	8	6	1	2	4	1	2	1	2	3	4	2	4	0	1	3	2	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:118556656A>G	ENST00000311085.8	+	36	8174	c.8094A>G	c.(8092-8094)atA>atG	p.I2698M	DMXL1_ENST00000539542.1_Missense_Mutation_p.I2719M|DMXL1_ENST00000505312.1_3'UTR	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2698										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTTGGTTATACATGCTCGTG	0.353													G	118556656	A	G	118556656	3	3	364	1	0	0	0	0	1	0	0	0	4633	381	14	3	8236	3	DMXL1	5	118556656	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	465	118556656	62358604	4592	28094											
ZNF474	133923	broad.mit.edu	37	chr5	121487888	121487888	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacctgggactgtgatacTatcaaaactgtcaagtagaa	15	9	10	7	0	2	3	2	1	0	2	2	5	2	4	1	1	2	1	1	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:121487888T>C	ENST00000296600.4	+	2	586	c.203T>C	c.(202-204)cTa>cCa	p.L68P	CTC-441N14.2_ENST00000504829.1_RNA|ZNF474_ENST00000514925.1_Intron	NM_207317.1	NP_997200.1	Q6S9Z5	ZN474_HUMAN	zinc finger protein 474	68						intracellular	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|stomach(1)	21		all_cancers(142;0.229)|Prostate(80;0.0387)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000197)|Epithelial(69;0.00029)|all cancers(49;0.00415)		ACTGTGATACTATCAAAACTG	0.468													C	121487888	T	C	121487888	3	2	364	1	0	0	0	0	1	0	0	0	18033	1522	53	3	205	3	ZNF474	5	121487888	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2931232	121487888	59427372	4593	28095											
PPIC	5480	broad.mit.edu	37	chr5	122365005	122365005	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgagacatacctctcCtgttgctagagcaacaaaat	16	10	6	9	0	1	2	0	1	1	2	2	3	1	2	2	0	4	3	2	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122365005C>A	ENST00000306442.4	-	2	341	c.226G>T	c.(226-228)Gga>Tga	p.G76*		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	76	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	CATACCTCTCCTGTTGCTAGA	0.353													A	122365005	C	A	122365005	4	1	364	1	0	0	0	0	0	1	0	0	12402	690	24	4	428	4	PPIC	5	122365005	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	877117	122365005	58550255	4594	28096											
CEP120	153241	broad.mit.edu	37	chr5	122718703	122718703	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaatcagagataaaaaTctcacgcatttttactagtc	16	12	6	7	1	2	3	2	1	1	2	4	4	2	3	0	0	1	1	0	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122718703T>C	ENST00000306467.5	-	12	2141	c.1837A>G	c.(1837-1839)Att>Gtt	p.I613V	CEP120_ENST00000306481.6_Missense_Mutation_p.I587V|CEP120_ENST00000328236.5_Missense_Mutation_p.I613V			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	613						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						GAGATAAAAATCTCACGCATT	0.279													C	122718703	T	C	122718703	3	2	364	1	0	0	0	0	1	0	0	0	3276	1435	50	3	1159	3	CEP120	5	122718703	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	353698	122718703	58196557	4595	28097											
CSNK1G3	1456	broad.mit.edu	37	chr5	122950078	122950078	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaggaaaaccatacaGcgccacaaatgactctggac	18	4	9	10	1	1	1	0	1	1	0	1	4	1	4	2	3	3	0	2	3	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:122950078G>A	ENST00000395412.1	+	14	2075	c.1356G>A	c.(1354-1356)caG>caA	p.Q452Q	CSNK1G3_ENST00000345990.4_Silent_p.Q420Q|CSNK1G3_ENST00000512718.3_Silent_p.Q345Q|CSNK1G3_ENST00000510842.2_Silent_p.Q421Q|CSNK1G3_ENST00000360683.2_Silent_p.Q452Q|CSNK1G3_ENST00000395411.1_Silent_p.Q444Q|CSNK1G3_ENST00000521364.1_Silent_p.Q420Q|CSNK1G3_ENST00000361991.2_Silent_p.Q444Q|CSNK1G3_ENST00000511130.2_Silent_p.Q308Q			Q9Y6M4	KC1G3_HUMAN	casein kinase 1, gamma 3	444					Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(1)	15		all_cancers(142;0.0156)|Prostate(80;0.0322)|Lung NSC(810;0.245)	KIRC - Kidney renal clear cell carcinoma(527;0.165)|Kidney(363;0.229)	OV - Ovarian serous cystadenocarcinoma(64;0.000121)|Epithelial(69;0.000227)|all cancers(49;0.00176)		AAACCATACAGCGCCACAAAT	0.388													A	122950078	G	A	122950078	2	1	364	1	0	0	0	0	0	0	0	1	3989	962	34	2		2	CSNK1G3	5	122950078	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231375	122950078	57965182	4596	28098											
ZNF608	57507	broad.mit.edu	37	chr5	123982844	123982844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcatactggccataataaAgtgactgagccagggcagga	14	7	12	8	0	0	2	0	2	0	0	0	3	0	3	2	3	3	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123982844A>G	ENST00000306315.5	-	4	3668	c.3233T>C	c.(3232-3234)cTt>cCt	p.L1078P	ZNF608_ENST00000504926.1_Missense_Mutation_p.L651P	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1078						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCCATAATAAAGTGACTGAGC	0.483													G	123982844	A	G	123982844	3	3	364	1	0	0	0	0	1	0	0	0	18135	72	3	3	1329	3	ZNF608	5	123982844	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1032766	123982844	56932416	4597	28099											
ZNF608	57507	broad.mit.edu	37	chr5	123983871	123983871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggggcaggggcaatgggccGggcacttttcagtttagaga	8	9	17	7	1	1	1	1	0	0	1	1	2	1	1	1	6	0	4	1	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:123983871G>A	ENST00000306315.5	-	4	2641	c.2206C>T	c.(2206-2208)Cgg>Tgg	p.R736W	ZNF608_ENST00000504926.1_Missense_Mutation_p.R309W	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	736						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		GCAATGGGCCGGGCACTTTTC	0.493													A	123983871	G	A	123983871	3	1	364	1	0	0	0	0	1	0	0	0	18135	1115	39	1	2356	1	ZNF608	5	123983871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1027	123983871	56931389	4598	28100											
ZNF608	57507	broad.mit.edu	37	chr5	124080282	124080282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttggacttcctgcctcttgCcagtgctgctgatctcggga	4	13	11	13	1	2	1	0	1	2	0	4	3	3	3	3	2	4	2	3	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:124080282C>T	ENST00000306315.5	-	1	836	c.401G>A	c.(400-402)gGc>gAc	p.G134D		NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	134						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		CTGCCTCTTGCCAGTGCTGCT	0.527													T	124080282	C	T	124080282	3	4	364	1	0	0	0	0	1	0	0	0	18135	739	26	2	4173	2	ZNF608	5	124080282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96411	124080282	56834978	4599	28101											
ALDH7A1	501	broad.mit.edu	37	chr5	125894979	125894979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagctgttcccacagcagCgaagagagctgatggaacaa	13	5	12	11	1	0	2	0	1	0	1	1	5	1	3	2	1	5	4	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125894979C>T	ENST00000409134.3	-	11	1180	c.961G>A	c.(961-963)Gct>Act	p.A321T	ALDH7A1_ENST00000447989.2_Missense_Mutation_p.A348T|ALDH7A1_ENST00000553117.1_Missense_Mutation_p.A321T	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	321					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCCACAGCAGCGAAGAGAGCT	0.478													T	125894979	C	T	125894979	3	4	364	1	0	0	0	0	1	0	0	0	504	768	27	1	690	1	ALDH7A1	5	125894979	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1814697	125894979	55020281	4600	28102											
PHAX	51808	broad.mit.edu	37	chr5	125939420	125939420	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggaaacgcaaacgacaGaaatgttttaaccctcctcc	13	10	6	12	2	0	1	0	0	0	1	2	3	2	2	3	1	3	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939420G>T	ENST00000297540.4	+	2	950	c.255G>T	c.(253-255)caG>caT	p.Q85H	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	85	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						GCAAACGACAGAAATGTTTTA	0.423													T	125939420	G	T	125939420	3	4	364	1	0	0	0	0	1	0	0	0	11890	933	33	4	261	4	PHAX	5	125939420	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44441	125939420	54975840	4601	28103											
PHAX	51808	broad.mit.edu	37	chr5	125939431	125939431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaacgacagaaatgttttaAccctcctcccaaaccagagc	15	7	5	14	1	0	2	0	0	0	2	2	3	2	2	4	0	4	1	4	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125939431A>G	ENST00000297540.4	+	2	961	c.266A>G	c.(265-267)aAc>aGc	p.N89S	PHAX_ENST00000514725.1_3'UTR	NM_032177.3	NP_115553.2	Q9H814	PHAX_HUMAN	phosphorylated adaptor for RNA export	89	Necessary for interaction with CBP80 (By similarity).				ncRNA metabolic process|protein transport|snRNA export from nucleus|spliceosomal snRNP assembly	Cajal body|cytosol	RNA binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	8						AAATGTTTTAACCCTCCTCCC	0.433													G	125939431	A	G	125939431	3	3	364	1	0	0	0	0	1	0	0	0	11890	43	2	3	272	3	PHAX	5	125939431	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11	125939431	54975829	4602	28104											
C5orf48	389320	broad.mit.edu	37	chr5	125967480	125967480	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaaactcactaacaactgCtctgatgagagtctctataa	14	11	5	11	0	3	2	1	2	2	1	4	3	3	2	1	0	4	1	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967480C>A	ENST00000357147.3	+	1	67	c.54C>A	c.(52-54)tgC>tgA	p.C18*		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	18										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						CTAACAACTGCTCTGATGAGA	0.398													A	125967480	C	A	125967480	4	1	364	1	0	0	0	0	0	1	0	0	2328	805	28	4	56	4	C5orf48	5	125967480	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28049	125967480	54947780	4603	28105											
C5orf48	389320	broad.mit.edu	37	chr5	125967491	125967491	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaactgctctgatgagaGtctctataaatctgctaata	14	13	6	8	0	3	2	0	2	3	1	4	3	3	2	0	0	4	2	0	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:125967491G>T	ENST00000357147.3	+	1	78	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_207408.1	NP_997291.1	Q6ZNM6	CE048_HUMAN	chromosome 5 open reading frame 48	22										large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	7						TCTGATGAGAGTCTCTATAAA	0.393													T	125967491	G	T	125967491	3	4	364	1	0	0	0	0	1	0	0	0	2328	1029	36	4	67	4	C5orf48	5	125967491	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	125967491	54947769	4604	28106											
MEGF10	84466	broad.mit.edu	37	chr5	126674846	126674846	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcaagagtcatacccacatCcctttgatcaaatttactac	13	12	4	12	0	2	2	2	1	0	1	3	2	3	2	2	0	4	1	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126674846C>A	ENST00000274473.6	+	4	418	c.151C>A	c.(151-153)Ccc>Acc	p.P51T	MEGF10_ENST00000503335.2_Missense_Mutation_p.P51T|MEGF10_ENST00000508365.1_Missense_Mutation_p.P51T|MEGF10_ENST00000418761.2_Missense_Mutation_p.P51T	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	51	EMI.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATACCCACATCCCTTTGATCA	0.358													A	126674846	C	A	126674846	3	1	364	1	0	0	0	0	1	0	0	0	9535	855	30	4	157	4	MEGF10	5	126674846	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	707355	126674846	54240414	4605	28107											
MEGF10	84466	broad.mit.edu	37	chr5	126676323	126676323	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcggggaaatgtgtgtccGtaagtaagactgtcacccct	11	9	12	9	2	1	1	1	0	0	1	2	2	2	2	3	2	1	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126676323G>A	ENST00000274473.6	+	5	586		c.e5+1		MEGF10_ENST00000503335.2_Splice_Site|MEGF10_ENST00000508365.1_Splice_Site|MEGF10_ENST00000418761.2_Splice_Site	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10						cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATGTGTGTCCGTAAGTAAGAC	0.488													A	126676323	G	A	126676323	5	1	364	1	0	0	0	0	0	0	1	0	9535	1159	40	1	330	1	MEGF10	5	126676323	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1477	126676323	54238937	4606	28108											
MEGF10	84466	broad.mit.edu	37	chr5	126781197	126781197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcttaagccgaaccagtaCtgctctccctgctgattcct	8	11	7	15	1	1	1	0	1	1	0	3	2	2	1	4	0	6	4	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:126781197C>A	ENST00000274473.6	+	21	2807	c.2540C>A	c.(2539-2541)aCt>aAt	p.T847N	MEGF10_ENST00000510828.1_Intron|MEGF10_ENST00000503335.2_Missense_Mutation_p.T847N	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	847	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CGAACCAGTACTGCTCTCCCT	0.428													A	126781197	C	A	126781197	3	1	364	1	0	0	0	0	1	0	0	0	9535	565	20	4	2614	4	MEGF10	5	126781197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104874	126781197	54134063	4607	28109											
SLC12A2	6558	broad.mit.edu	37	chr5	127466827	127466827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaattggtctaatcttcGcctttgccaacgctgttgca	7	14	9	11	2	2	0	0	0	2	0	3	0	2	0	2	1	4	4	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466827G>A	ENST00000262461.2	+	5	1306	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A373T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	373					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCTAATCTTCGCCTTTGCCAA	0.398													A	127466827	G	A	127466827	3	1	364	1	0	0	0	0	1	0	0	0	14477	1087	38	1	1135	1	SLC12A2	5	127466827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	685630	127466827	53448433	4608	28110											
SLC12A2	6558	broad.mit.edu	37	chr5	127466839	127466839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatcttcgcctttgccaacGctgttgcagttgctatgtat	7	16	8	10	2	1	0	0	0	1	0	2	0	1	0	2	0	4	6	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127466839G>A	ENST00000262461.2	+	5	1318	c.1129G>A	c.(1129-1131)Gct>Act	p.A377T	SLC12A2_ENST00000343225.4_Missense_Mutation_p.A377T	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	377					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTTGCCAACGCTGTTGCAGT	0.398													A	127466839	G	A	127466839	3	1	364	1	0	0	0	0	1	0	0	0	14477	1087	38	1	1147	1	SLC12A2	5	127466839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	127466839	53448421	4609	28111											
SLC12A2	6558	broad.mit.edu	37	chr5	127503458	127503458	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctatattttaggctgcTggtcttggtcgtatgaagcc	7	14	11	9	1	1	1	0	1	1	0	2	2	1	1	2	3	2	3	2	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127503458T>C	ENST00000262461.2	+	18	2811	c.2622T>C	c.(2620-2622)gcT>gcC	p.A874A	SLC12A2_ENST00000343225.4_Silent_p.A874A	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	874					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TTTAGGCTGCTGGTCTTGGTC	0.338													C	127503458	T	C	127503458	2	2	364	1	0	0	0	0	0	0	0	1	14477	1567	55	3		3	SLC12A2	5	127503458	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36619	127503458	53411802	4610	28112											
SLC12A2	6558	broad.mit.edu	37	chr5	127516592	127516592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggtttgaccttattgataCcttaccttctgacgaccaag	10	13	7	11	1	1	3	0	3	1	0	1	4	1	3	4	1	2	1	4	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127516592C>T	ENST00000262461.2	+	23	3307	c.3118C>T	c.(3118-3120)Cct>Tct	p.P1040S	SLC12A2_ENST00000507791.1_3'UTR|SLC12A2_ENST00000343225.4_Missense_Mutation_p.P1024S	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1040					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTTATTGATACCTTACCTTCT	0.323													T	127516592	C	T	127516592	3	4	364	1	0	0	0	0	1	0	0	0	14477	507	18	2	3208	2	SLC12A2	5	127516592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13134	127516592	53398668	4611	28113											
FBN2	2201	broad.mit.edu	37	chr5	127610311	127610311	+	Frame_Shift_Del	DEL	C	C	-																															ggtggacatttacaggtaaaCccccccagggtgttgacaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127610311delC	ENST00000508053.1	-	66	8633	c.7659delG	c.(7657-7659)gggfs	p.G2553fs	FBN2_ENST00000262464.4_Frame_Shift_Del_p.G2553fs			P35556	FBN2_HUMAN	fibrillin 2	2553	EGF-like 43; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TACAGGTAAACCCCCCCAGGG	0.423													-	127610311	C	-	127610311	7	5	364	1	0	1	0	1	0	0	0	0	5752	494	18	0	1103	0	FBN2	5	127610311	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	93719	127610311	53304949	4612	28114											
FBN2	2201	broad.mit.edu	37	chr5	127641519	127641519	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttattcagattaccttcAcaaaccaacagcaggtcatt	14	12	4	11	0	3	1	3	0	0	1	3	1	3	1	2	1	4	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127641519A>G	ENST00000508053.1	-	49	6518	c.5544T>C	c.(5542-5544)tgT>tgC	p.C1848C	FBN2_ENST00000262464.4_Silent_p.C1848C			P35556	FBN2_HUMAN	fibrillin 2	1848	EGF-like 29; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GATTACCTTCACAAACCAACA	0.358													G	127641519	A	G	127641519	2	3	364	1	0	0	0	0	0	0	0	1	5752	157	6	3		3	FBN2	5	127641519	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31208	127641519	53273741	4613	28115											
FBN2	2201	broad.mit.edu	37	chr5	127674749	127674749	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagaaatcctgcactcgtcGatgtctaattcacagggttt	10	12	10	9	2	2	1	1	0	1	1	5	3	3	1	1	2	1	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127674749G>A	ENST00000508053.1	-	32	4322	c.3348C>T	c.(3346-3348)atC>atT	p.I1116I	FBN2_ENST00000507835.1_5'UTR|FBN2_ENST00000262464.4_Silent_p.I1116I|FBN2_ENST00000508989.1_Silent_p.I1083I			P35556	FBN2_HUMAN	fibrillin 2	1116	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TGCACTCGTCGATGTCTAATT	0.458													A	127674749	G	A	127674749	2	1	364	1	0	0	0	0	0	0	0	1	5752	1048	37	1		1	FBN2	5	127674749	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33230	127674749	53240511	4614	28116											
FBN2	2201	broad.mit.edu	37	chr5	127680187	127680187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacatcccaggaaatgctTtgcattcattgatgtctaaa	12	13	7	9	0	2	1	1	1	1	0	3	2	3	2	1	1	3	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127680187T>C	ENST00000508053.1	-	31	4207	c.3233A>G	c.(3232-3234)aAa>aGa	p.K1078R	FBN2_ENST00000262464.4_Missense_Mutation_p.K1078R|FBN2_ENST00000508989.1_Missense_Mutation_p.K1045R			P35556	FBN2_HUMAN	fibrillin 2	1078	EGF-like 15; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGGAAATGCTTTGCATTCATT	0.398													C	127680187	T	C	127680187	3	2	364	1	0	0	0	0	1	0	0	0	5752	1841	64	3	5669	3	FBN2	5	127680187	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5438	127680187	53235073	4615	28117											
FBN2	2201	broad.mit.edu	37	chr5	127702084	127702084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacctcttccatccacaGtgatacctactccactacta	11	12	3	15	0	1	1	0	1	1	0	4	1	4	1	5	0	4	1	5	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127702084G>A	ENST00000508053.1	-	23	3262	c.2288C>T	c.(2287-2289)aCt>aTt	p.T763I	FBN2_ENST00000262464.4_Missense_Mutation_p.T763I|FBN2_ENST00000508989.1_Missense_Mutation_p.T730I|FBN2_ENST00000511489.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	763					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		TCCATCCACAGTGATACCTAC	0.299													A	127702084	G	A	127702084	3	1	364	1	0	0	0	0	1	0	0	0	5752	1029	36	2	6646	2	FBN2	5	127702084	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21897	127702084	53213176	4616	28118											
FBN2	2201	broad.mit.edu	37	chr5	127744372	127744372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcgaggcttaccgatgCatcgagagccatctgttgag	11	9	12	9	3	1	2	0	1	1	1	2	5	1	2	2	1	4	3	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:127744372C>T	ENST00000508053.1	-	14	2047	c.1073G>A	c.(1072-1074)tGc>tAc	p.C358Y	FBN2_ENST00000262464.4_Missense_Mutation_p.C358Y|FBN2_ENST00000508989.1_Missense_Mutation_p.C325Y			P35556	FBN2_HUMAN	fibrillin 2	358	EGF-like 5; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CTTACCGATGCATCGAGAGCC	0.418													T	127744372	C	T	127744372	3	4	364	1	0	0	0	0	1	0	0	0	5752	710	25	2	7897	2	FBN2	5	127744372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42288	127744372	53170888	4617	28119											
SLC27A6	28965	broad.mit.edu	37	chr5	128365298	128365298	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagagcaggaatggcttcTattattttaaaaccaaatac	16	11	8	6	0	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:128365298T>C	ENST00000262462.4	+	9	2591	c.1581T>C	c.(1579-1581)tcT>tcC	p.S527S	SLC27A6_ENST00000506176.1_Silent_p.S527S|SLC27A6_ENST00000395266.1_Silent_p.S527S			Q9Y2P4	S27A6_HUMAN	solute carrier family 27 (fatty acid transporter), member 6	527					long-chain fatty acid transport|transmembrane transport|very long-chain fatty acid metabolic process	integral to membrane|sarcolemma	fatty acid transporter activity|long-chain fatty acid-CoA ligase activity|nucleotide binding			NS(2)|endometrium(1)|kidney(3)|large_intestine(11)|liver(1)|lung(20)|prostate(1)|skin(4)|stomach(1)	44		all_cancers(142;0.0483)|Prostate(80;0.055)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Epithelial(69;0.171)|OV - Ovarian serous cystadenocarcinoma(64;0.186)		GAATGGCTTCTATTATTTTAA	0.284													C	128365298	T	C	128365298	2	2	364	1	0	0	0	0	0	0	0	1	14624	1509	53	3		3	SLC27A6	5	128365298	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	620926	128365298	52549962	4618	28120											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070634	129070634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttctcctagtgctcaattAcctgtggcaaaggaatgcag	11	12	9	9	0	2	0	1	0	1	0	3	1	2	1	2	2	3	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129070634A>G	ENST00000274487.4	+	22	3449	c.3304A>G	c.(3304-3306)Acc>Gcc	p.T1102A	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1102	TSP type-1 5.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGCTCAATTACCTGTGGCAA	0.358													G	129070634	A	G	129070634	3	3	364	1	0	0	0	0	1	0	0	0	264	391	14	3	3390	3	ADAMTS19	5	129070634	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	705336	129070634	51844626	4619	28121											
CHSY3	337876	broad.mit.edu	37	chr5	129241270	129241270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagtacatgcacgaccacTacctggacaagtatgagtgg	13	8	10	10	1	1	1	1	1	0	0	1	3	1	2	2	2	3	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129241270T>C	ENST00000305031.4	+	1	1106	c.748T>C	c.(748-750)Tac>Cac	p.Y250H	CTC-575N7.1_ENST00000515569.1_RNA|CTC-575N7.1_ENST00000503616.1_RNA	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	250						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GCACGACCACTACCTGGACAA	0.592													C	129241270	T	C	129241270	3	2	364	1	0	0	0	0	1	0	0	0	3443	1522	53	3	750	3	CHSY3	5	129241270	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	170636	129241270	51673990	4620	28122											
CHSY3	337876	broad.mit.edu	37	chr5	129520135	129520135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgccctgatgagcaagCtcagtaacacagaagtgagc	15	6	11	9	0	1	4	1	3	0	1	1	4	1	4	1	0	5	3	1	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129520135C>T	ENST00000305031.4	+	3	1658	c.1300C>T	c.(1300-1302)Ctc>Ttc	p.L434F	CHSY3_ENST00000507545.1_3'UTR	NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	434						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		GATGAGCAAGCTCAGTAACAC	0.488													T	129520135	C	T	129520135	3	4	364	1	0	0	0	0	1	0	0	0	3443	797	28	2	1310	2	CHSY3	5	129520135	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278865	129520135	51395125	4621	28123											
CHSY3	337876	broad.mit.edu	37	chr5	129521469	129521469	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttaggtgtcaggtacaaTcgaactctctcctgacagtc	10	12	8	11	1	2	1	1	1	1	0	6	2	3	1	1	2	2	1	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:129521469T>C	ENST00000305031.4	+	3	2992	c.2634T>C	c.(2632-2634)aaT>aaC	p.N878N		NM_175856.4	NP_787052.3	Q70JA7	CHSS3_HUMAN	chondroitin sulfate synthase 3	878						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0227)|Breast(839;0.198)|Prostate(80;0.215)|Lung NSC(810;0.239)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.136)		TCAGGTACAATCGAACTCTCT	0.393													C	129521469	T	C	129521469	2	2	364	1	0	0	0	0	0	0	0	1	3443	1432	50	3		3	CHSY3	5	129521469	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1334	129521469	51393791	4622	28124											
RAPGEF6	51735	broad.mit.edu	37	chr5	130769276	130769276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaacaattgctcacgatgCtggaccgtgaagaaatctca	14	8	9	10	2	2	3	2	1	1	2	3	5	2	4	1	1	3	2	1	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130769276C>A	ENST00000509018.1	-	25	4026	c.3821G>T	c.(3820-3822)aGc>aTc	p.S1274I	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1324I|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1287I|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1282I|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1282I	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1274	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCTCACGATGCTGGACCGTGA	0.483													A	130769276	C	A	130769276	3	1	364	1	0	0	0	0	1	0	0	0	13136	797	28	4	1000	4	RAPGEF6	5	130769276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1247807	130769276	50145984	4623	28125											
RAPGEF6	51735	broad.mit.edu	37	chr5	130799818	130799818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacaccctcaggagtaacaGaaacttcacagagagaatat	17	7	8	9	0	2	4	2	1	0	3	2	6	2	5	1	1	2	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130799818G>A	ENST00000509018.1	-	18	2601	c.2396C>T	c.(2395-2397)tCt>tTt	p.S799F	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S849F|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.S514F|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S804F|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.S799F|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.S799F|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S799F	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	799	Ras-associating.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AGGAGTAACAGAAACTTCACA	0.383													A	130799818	G	A	130799818	3	1	364	1	0	0	0	0	1	0	0	0	13136	942	33	2	2920	2	RAPGEF6	5	130799818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30542	130799818	50115442	4624	28126											
RAPGEF6	51735	broad.mit.edu	37	chr5	130815253	130815253	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatcgtgttttatccaaaatCttcctgattttgtttcttcc	8	20	4	9	1	2	1	0	1	2	0	6	1	5	1	3	0	0	2	3	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815253C>T	ENST00000509018.1	-	16	2239	c.2034G>A	c.(2032-2034)aaG>aaA	p.K678K	CTC-432M15.3_ENST00000514667.1_Silent_p.K728K|RAPGEF6_ENST00000512052.1_Silent_p.K393K|RAPGEF6_ENST00000307984.5_Silent_p.K678K|RAPGEF6_ENST00000296859.6_Silent_p.K678K|RAPGEF6_ENST00000510071.1_Silent_p.K678K|RAPGEF6_ENST00000308008.6_Silent_p.K678K|RAPGEF6_ENST00000507093.1_Silent_p.K678K	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	678					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		TATCCAAAATCTTCCTGATTT	0.373													T	130815253	C	T	130815253	2	4	364	1	0	0	0	0	0	0	0	1	13136	912	32	2		2	RAPGEF6	5	130815253	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15435	130815253	50100007	4625	28127											
RAPGEF6	51735	broad.mit.edu	37	chr5	130815437	130815437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagtcctaaaaagtaacTctttgaacactgtggaaata	15	12	7	7	0	2	1	1	1	1	0	3	2	3	2	1	1	2	2	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:130815437T>C	ENST00000509018.1	-	16	2055	c.1850A>G	c.(1849-1851)gAg>gGg	p.E617G	CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.E667G|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.E332G|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.E617G|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.E617G|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.E617G|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.E617G	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	617					Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		AAAAAGTAACTCTTTGAACAC	0.328													C	130815437	T	C	130815437	3	2	364	1	0	0	0	0	1	0	0	0	13136	1551	54	3	3493	3	RAPGEF6	5	130815437	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	184	130815437	50099823	4626	28128											
FNIP1	96459	broad.mit.edu	37	chr5	131008547	131008547	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtagcctctggaccatGtcttgtcgtttgccaactac	9	13	8	11	1	2	0	0	0	2	0	3	1	2	1	3	1	4	2	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131008547G>A	ENST00000307968.7	-	13	1505	c.1506C>T	c.(1504-1506)gaC>gaT	p.D502D	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Silent_p.D530D|FNIP1_ENST00000307954.8_Silent_p.D485D	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCTGGACCATGTCTTGTCGTT	0.398													A	131008547	G	A	131008547	2	1	364	1	0	0	0	0	0	0	0	1	6024	1368	48	2		2	FNIP1	5	131008547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193110	131008547	49906713	4627	28129											
FNIP1	96459	broad.mit.edu	37	chr5	131014841	131014841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggttctccaattcgtggCatcgtgtaaagattacaaat	13	12	8	8	2	1	1	0	0	1	1	4	1	1	1	1	2	1	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131014841C>T	ENST00000307968.7	-	11	1145	c.1146G>A	c.(1144-1146)atG>atA	p.M382I	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.M410I|FNIP1_ENST00000307954.8_Missense_Mutation_p.M365I|FNIP1_ENST00000511848.1_Missense_Mutation_p.M410I	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		CAATTCGTGGCATCGTGTAAA	0.358													T	131014841	C	T	131014841	3	4	364	1	0	0	0	0	1	0	0	0	6024	710	25	2	2298	2	FNIP1	5	131014841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6294	131014841	49900419	4628	28130											
FNIP1	96459	broad.mit.edu	37	chr5	131039847	131039847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaatttgttattttcatCttcatctttggacaatgaaa	13	19	4	5	0	4	1	2	1	2	0	4	2	4	2	0	1	0	1	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131039847C>A	ENST00000307968.7	-	9	942	c.943G>T	c.(943-945)Gat>Tat	p.D315Y	CTC-432M15.3_ENST00000514667.1_Intron|FNIP1_ENST00000510461.1_Missense_Mutation_p.D343Y|FNIP1_ENST00000307954.8_Missense_Mutation_p.D298Y|FNIP1_ENST00000511848.1_Missense_Mutation_p.D343Y	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TTATTTTCATCTTCATCTTTG	0.343													A	131039847	C	A	131039847	3	1	364	1	0	0	0	0	1	0	0	0	6024	913	32	4	2509	4	FNIP1	5	131039847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25006	131039847	49875413	4629	28131											
IL3	3562	broad.mit.edu	37	chr5	131398222	131398222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctctttccacagaatCtcctgccatgtctgcccctg	5	14	7	15	0	3	1	0	0	3	1	6	1	4	1	5	1	2	0	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131398222C>A	ENST00000296870.2	+	4	476	c.298C>A	c.(298-300)Ctc>Atc	p.L100I		NM_000588.3	NP_000579.2	P08700	IL3_HUMAN	interleukin 3 (colony-stimulating factor, multiple)	100					cell-cell signaling|immune response|nervous system development|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of survival gene product expression|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|growth factor activity|interleukin-3 receptor binding			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)	10		all_cancers(142;7.42e-12)|Lung NSC(810;4.25e-07)|all_lung(232;1.93e-06)|Prostate(281;0.00741)|Breast(839;0.0544)|Lung SC(612;0.122)|Ovarian(839;0.223)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	GBM - Glioblastoma multiforme(465;0.0161)|Lung(113;0.105)	Amlexanox(DB01025)	TCCACAGAATCTCCTGCCATG	0.607													A	131398222	C	A	131398222	3	1	364	1	0	0	0	0	1	0	0	0	7747	913	32	4	312	4	IL3	5	131398222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	358375	131398222	49517038	4630	28132											
P4HA2	8974	broad.mit.edu	37	chr5	131554263	131554263	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgaagaattcggcctgCacacagctcaggacaccaaa	14	5	11	11	1	1	2	1	1	0	1	2	4	1	3	2	3	2	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131554263C>T	ENST00000401867.1	-	3	625	c.57G>A	c.(55-57)gtG>gtA	p.V19V	P4HA2_ENST00000166534.4_Silent_p.V19V|P4HA2_ENST00000379086.1_Silent_p.V19V|P4HA2_ENST00000379100.2_Silent_p.V19V|P4HA2_ENST00000360568.3_Silent_p.V19V|P4HA2_ENST00000379104.2_Silent_p.V19V			O15460	P4HA2_HUMAN	prolyl 4-hydroxylase, alpha polypeptide II	19						endoplasmic reticulum lumen	electron carrier activity|iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		all_cancers(142;0.103)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Proline(DB00172)|Succinic acid(DB00139)	ATTCGGCCTGCACACAGCTCA	0.527													T	131554263	C	T	131554263	2	4	364	1	0	0	0	0	0	0	0	1	11433	697	25	2		2	P4HA2	5	131554263	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156041	131554263	49360997	4631	28133											
SLC22A4	6583	broad.mit.edu	37	chr5	131671563	131671563	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaaaatttgggatcacCtctgctttctccatgctgta	8	14	9	10	0	3	0	1	0	2	0	4	2	3	2	2	2	2	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131671563C>A	ENST00000200652.3	+	8	1488	c.1314C>A	c.(1312-1314)acC>acA	p.T438T	AC034220.3_ENST00000437091.1_RNA|AC034220.3_ENST00000417795.1_RNA	NM_003059.2	NP_003050.2	Q9H015	S22A4_HUMAN	solute carrier family 22 (organic cation/zwitterion transporter), member 4	438					body fluid secretion|sodium ion transport	apical plasma membrane|integral to plasma membrane|mitochondrion	ATP binding|carnitine transporter activity|cation:cation antiporter activity|PDZ domain binding|secondary active organic cation transmembrane transporter activity|symporter activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|urinary_tract(1)	16		all_cancers(142;0.0752)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TTGGGATCACCTCTGCTTTCT	0.488													A	131671563	C	A	131671563	2	1	364	1	0	0	0	0	0	0	0	1	14550	668	24	4		4	SLC22A4	5	131671563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117300	131671563	49243697	4632	28134											
SLC22A5	6584	broad.mit.edu	37	chr5	131722800	131722800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catccgcaaggctgccaaagCcaatgggattgttgtgcctt	9	10	11	11	1	0	0	0	0	0	0	1	1	1	1	4	2	3	3	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131722800C>T	ENST00000245407.3	+	5	1129	c.908C>T	c.(907-909)gCc>gTc	p.A303V	SLC22A5_ENST00000435065.2_Missense_Mutation_p.A327V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	303					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GCTGCCAAAGCCAATGGGATT	0.552											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	131722800	C	T	131722800	3	4	364	1	0	0	0	0	1	0	0	0	14551	739	26	2	926	2	SLC22A5	5	131722800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51237	131722800	49192460	4633	28135											
C5orf56	441108	broad.mit.edu	37	chr5	131796479	131796479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgggcatggcagcaatGcagcagtgaacaaaaccatc	13	6	12	10	0	0	1	0	1	0	0	1	1	0	1	1	2	6	6	1	2	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131796479G>A	ENST00000337752.2	+	4	445	c.314G>A	c.(313-315)tGc>tAc	p.C105Y	C5orf56_ENST00000378953.4_Intron|C5orf56_ENST00000407797.1_Intron			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56	105										breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						tggcagcaatgcagcagtgaa	0.418													A	131796479	G	A	131796479	3	1	364	1	0	0	0	0	1	0	0	0	2334	1319	46	2	324	2	C5orf56	5	131796479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73679	131796479	49118781	4634	28136											
IRF1	3659	broad.mit.edu	37	chr5	131819745	131819745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatctgtgaagacacgCtgtagactcagcccaatatc	12	10	8	11	1	3	4	2	1	1	3	4	4	3	4	1	0	1	2	1	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131819745C>A	ENST00000245414.4	-	10	1134	c.876G>T	c.(874-876)caG>caT	p.Q292H	IRF1_ENST00000405885.2_Missense_Mutation_p.Q292H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	292					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		TGAAGACACGCTGTAGACTCA	0.572													A	131819745	C	A	131819745	3	1	364	1	0	0	0	0	1	0	0	0	7885	796	28	4	105	4	IRF1	5	131819745	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23266	131819745	49095515	4635	28137											
IRF1	3659	broad.mit.edu	37	chr5	131820178	131820178	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttggctgccactccgaCtgctccaagagctggggaca	7	10	12	12	1	0	1	0	0	0	1	2	3	2	2	3	3	3	4	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131820178C>A	ENST00000245414.4	-	9	987	c.729G>T	c.(727-729)caG>caT	p.Q243H	IRF1_ENST00000405885.2_Missense_Mutation_p.Q243H	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	243					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCACTCCGACTGCTCCAAGA	0.567													A	131820178	C	A	131820178	3	1	364	1	0	0	0	0	1	0	0	0	7885	564	20	4	256	4	IRF1	5	131820178	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	433	131820178	49095082	4636	28138											
IRF1	3659	broad.mit.edu	37	chr5	131822515	131822515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccttgctcttagcatctCggctggacttcgactttctt	4	16	9	12	2	3	0	0	0	3	0	5	2	3	1	1	3	2	3	1	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131822515C>T	ENST00000245414.4	-	5	644	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	IRF1_ENST00000405885.2_Missense_Mutation_p.R129Q|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	129					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CTTAGCATCTCGGCTGGACTT	0.592													T	131822515	C	T	131822515	3	4	364	1	0	0	0	0	1	0	0	0	7885	884	31	1	615	1	IRF1	5	131822515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2337	131822515	49092745	4637	28139											
IRF1	3659	broad.mit.edu	37	chr5	131823680	131823680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgtcccagccatgcttgGcagcatgcttccatgggatc	7	11	11	12	0	0	1	0	1	0	0	3	2	2	2	3	2	4	4	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131823680G>A	ENST00000245414.4	-	3	383	c.125C>T	c.(124-126)gCc>gTc	p.A42V	IRF1_ENST00000405885.2_Missense_Mutation_p.A42V|IRF1_ENST00000463784.1_Intron	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	42					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		GCCATGCTTGGCAGCATGCTT	0.537													A	131823680	G	A	131823680	3	1	364	1	0	0	0	0	1	0	0	0	7885	1203	42	2	884	2	IRF1	5	131823680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1165	131823680	49091580	4638	28140											
RAD50	10111	broad.mit.edu	37	chr5	131953826	131953826	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcataatttggcattagggCgacagaaaggttatgaagaa	16	10	11	4	1	1	3	1	1	0	2	1	4	1	3	0	3	0	2	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:131953826C>T	ENST00000378823.3	+	21	3630	c.2812C>T	c.(2812-2814)Cga>Tga	p.R938*	RAD50_ENST00000265335.6_Nonsense_Mutation_p.R1077*	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1077					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGCATTAGGGCGACAGAAAGG	0.318								Homologous recombination					T	131953826	C	T	131953826	4	4	364	1	0	0	0	0	0	1	0	0	13072	760	27	1	3311	1	RAD50	5	131953826	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130146	131953826	48961434	4639	28141											
KIF3A	11127	broad.mit.edu	37	chr5	132034985	132034985	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaggtccacctcaaaGggctaagtaaaagaaacaaa	20	5	9	7	0	1	2	1	1	0	2	2	3	2	2	2	2	1	2	2	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132034985G>T	ENST00000378746.4	-	16	2147	c.1929C>A	c.(1927-1929)ccC>ccA	p.P643P	KIF3A_ENST00000378735.1_Silent_p.P646P|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Silent_p.P670P	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	643					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCACCTCAAAGGGCTAAGTAA	0.403													T	132034985	G	T	132034985	2	4	364	1	0	0	0	0	0	0	0	1	8358	987	35	4		4	KIF3A	5	132034985	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81159	132034985	48880275	4640	28142											
KIF3A	11127	broad.mit.edu	37	chr5	132038596	132038596	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttttcctcaagttctCtgcgaagttgctctgctctt	4	18	6	13	1	5	0	1	0	4	0	7	1	6	0	2	0	3	4	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132038596C>A	ENST00000378746.4	-	11	1765	c.1547G>T	c.(1546-1548)aGa>aTa	p.R516I	KIF3A_ENST00000487055.1_5'UTR|KIF3A_ENST00000378735.1_Missense_Mutation_p.R519I|AC004237.1_ENST00000431165.1_RNA|KIF3A_ENST00000403231.1_Missense_Mutation_p.R543I	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	516					blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding			endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTCAAGTTCTCTGCGAAGTTG	0.383													A	132038596	C	A	132038596	3	1	364	1	0	0	0	0	1	0	0	0	8358	913	32	4	580	4	KIF3A	5	132038596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3611	132038596	48876664	4641	28143											
SEPT8	23176	broad.mit.edu	37	chr5	132099458	132099458	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggagtgccctgtgggCgtgatgaagtagaggcaaac	10	8	16	7	1	1	3	1	2	0	1	1	4	1	4	1	3	2	2	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132099458C>T	ENST00000296873.7	-	4	757	c.474G>A	c.(472-474)acG>acA	p.T158T	SEPT8_ENST00000378701.1_Silent_p.T156T|SEPT8_ENST00000378721.4_Silent_p.T156T|SEPT8_ENST00000378706.1_Silent_p.T158T|SEPT8_ENST00000458488.2_Silent_p.T158T|SEPT8_ENST00000448933.1_Silent_p.T98T|SEPT8_ENST00000378699.2_Silent_p.T98T|SEPT8_ENST00000378719.2_Silent_p.T158T	NM_001098812.1|NM_015146.1	NP_001092282.1|NP_055961.1	Q92599	SEPT8_HUMAN	septin 8	158					cell cycle	septin complex	GTP binding|protein binding		SEPT8/AFF4(2)	kidney(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCCTGTGGGCGTGATGAAGT	0.517													T	132099458	C	T	132099458	2	4	364	1	0	0	0	0	0	0	0	1	14163	755	27	1		1	SEPT8	5	132099458	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60862	132099458	48815802	4642	28144											
SHROOM1	134549	broad.mit.edu	37	chr5	132159124	132159124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctccagagccgcttggcGcctggcccacgcttgtgcct	4	8	12	17	3	0	1	0	0	0	1	1	1	1	1	6	2	3	2	6	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132159124G>A	ENST00000378679.3	-	9	2848	c.2044C>T	c.(2044-2046)Cgc>Tgc	p.R682C	SHROOM1_ENST00000378676.1_Missense_Mutation_p.R613C|SHROOM1_ENST00000488072.1_5'UTR|SHROOM1_ENST00000319854.3_Missense_Mutation_p.R682C	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	682	ASD2.				actin filament bundle assembly|cell morphogenesis	cytoplasm|microtubule	actin filament binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GCCGCTTGGCGCCTGGCCCAC	0.677													A	132159124	G	A	132159124	3	1	364	1	0	0	0	0	1	0	0	0	14387	1087	38	1	522	1	SHROOM1	5	132159124	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59666	132159124	48756136	4643	28145											
GDF9	2661	broad.mit.edu	37	chr5	132197653	132197653	+	Silent	SNP	G	G	T																															ttgaaggaagctgggcccaaGggcttcttcaattcagaact																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197653G>T	ENST00000378673.2	-	3	1859	c.993C>A	c.(991-993)ccC>ccA	p.P331P	GDF9_ENST00000296875.2_Silent_p.P331P			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGGGCCCAAGGGCTTCTTCA	0.488													T	132197653	G	T	132197653	2	4	364	1	0	0	0	0	0	0	0	1	6375	987	35	4		4	GDF9	5	132197653	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38529	132197653	48717607	4644	28146	61	2									
GDF9	2661	broad.mit.edu	37	chr5	132197655	132197655	+	Missense_Mutation	SNP	G	G	A																															gaaggaagctgggcccaaggGcttcttcaattcagaactga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132197655G>A	ENST00000378673.2	-	3	1857	c.991C>T	c.(991-993)Ccc>Tcc	p.P331S	GDF9_ENST00000296875.2_Missense_Mutation_p.P331S			O60383	GDF9_HUMAN	growth differentiation factor 9	331					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GGGCCCAAGGGCTTCTTCAAT	0.483													A	132197655	G	A	132197655	3	1	364	1	0	0	0	0	1	0	0	0	6375	1203	42	2	377	2	GDF9	5	132197655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2	132197655	48717605	4645	28147	61	2									
GDF9	2661	broad.mit.edu	37	chr5	132198025	132198025	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctgaatccatttgtgtttCtttccaaattcaaactgtga	11	17	5	8	0	3	2	1	2	2	0	5	2	5	2	2	0	1	1	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132198025C>T	ENST00000378673.2	-	3	1487	c.621G>A	c.(619-621)aaG>aaA	p.K207K	GDF9_ENST00000296875.2_Silent_p.K207K			O60383	GDF9_HUMAN	growth differentiation factor 9	207					female gamete generation|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	22		all_cancers(142;0.105)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ATTTGTGTTTCTTTCCAAATT	0.398													T	132198025	C	T	132198025	2	4	364	1	0	0	0	0	0	0	0	1	6375	912	32	2		2	GDF9	5	132198025	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	370	132198025	48717235	4646	28148											
AFF4	27125	broad.mit.edu	37	chr5	132232115	132232115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttcccccttgggcGgctctgtttctttgtaaggc	2	19	9	11	1	3	0	0	0	3	0	4	0	4	0	2	3	0	3	2	3	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132232115G>A	ENST00000265343.5	-	11	2586	c.2207C>T	c.(2206-2208)cCg>cTg	p.P736L	AFF4_ENST00000378595.3_Missense_Mutation_p.P736L	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	736					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCCTTGGGCGGCTCTGTTTC	0.453													A	132232115	G	A	132232115	3	1	364	1	0	0	0	0	1	0	0	0	359	1116	39	1	1328	1	AFF4	5	132232115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34090	132232115	48683145	4647	28149											
HSPA4	3308	broad.mit.edu	37	chr5	132406144	132406144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaaactgaaggagacaGccgaaagtgttcttaagaag	15	8	11	7	1	1	3	0	1	1	2	2	5	2	3	2	1	2	1	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132406144G>A	ENST00000304858.2	+	4	674	c.385G>A	c.(385-387)Gcc>Acc	p.A129T		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	129					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAAGGAGACAGCCGAAAGTGT	0.423													A	132406144	G	A	132406144	3	1	364	1	0	0	0	0	1	0	0	0	7469	971	34	2	399	2	HSPA4	5	132406144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174029	132406144	48509116	4648	28150											
HSPA4	3308	broad.mit.edu	37	chr5	132424247	132424247	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcgaggctgtgcattgcaGgtgaatattctttcttttat	8	17	9	7	1	2	1	0	1	2	0	3	2	2	1	0	2	2	3	0	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132424247G>T	ENST00000304858.2	+	9	1426	c.1137G>T	c.(1135-1137)caG>caT	p.Q379H		NM_002154.3	NP_002145.3	P34932	HSP74_HUMAN	heat shock 70kDa protein 4	379					cellular chaperone-mediated protein complex assembly|protein import into mitochondrial outer membrane|response to unfolded protein	cytoplasm|nucleus	ATP binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(10)|stomach(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTGCATTGCAGGTGAATATTC	0.373													T	132424247	G	T	132424247	5	4	364	1	0	0	0	0	0	0	1	0	7469	1014	35	4	1171	4	HSPA4	5	132424247	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18103	132424247	48491013	4649	28151											
FSTL4	23105	broad.mit.edu	37	chr5	132534815	132534815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacccacccacaccactgtgGtccccccctttatacctgac	8	8	4	21	0	0	1	0	1	0	0	1	1	1	1	7	1	1	0	7	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132534815G>A	ENST00000265342.7	-	16	2750	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	834						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACCACTGTGGTCCCCCCCTT	0.582													A	132534815	G	A	132534815	3	1	364	1	0	0	0	0	1	0	0	0	6131	1261	44	2	31	2	FSTL4	5	132534815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110568	132534815	48380445	4650	28152											
FSTL4	23105	broad.mit.edu	37	chr5	132537633	132537633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccagtctcacctgatgtgGttgatgatgaggtttgttgg	6	14	15	6	0	1	4	1	4	1	0	2	4	1	4	2	4	0	3	2	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132537633G>A	ENST00000265342.7	-	15	2067	c.1818C>T	c.(1816-1818)aaC>aaT	p.N606N	CTB-49A3.2_ENST00000509051.1_RNA	NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	606						extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			ACCTGATGTGGTTGATGATGA	0.572													A	132537633	G	A	132537633	2	1	364	1	0	0	0	0	0	0	0	1	6131	1252	44	2		2	FSTL4	5	132537633	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2818	132537633	48377627	4651	28153											
FSTL4	23105	broad.mit.edu	37	chr5	132736489	132736489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttcccaggaggcaagcaGcacggtggagcttacagtgg	9	8	14	10	1	1	0	0	0	1	0	2	2	2	2	1	5	4	4	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:132736489G>A	ENST00000265342.7	-	4	599	c.350C>T	c.(349-351)gCt>gTt	p.A117V		NM_015082.1	NP_055897.1	Q6MZW2	FSTL4_HUMAN	follistatin-like 4	117	Kazal-like.					extracellular region	calcium ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(8)|skin(2)|upper_aerodigestive_tract(1)	23		all_cancers(142;0.244)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GAGGCAAGCAGCACGGTGGAG	0.562													A	132736489	G	A	132736489	3	1	364	1	0	0	0	0	1	0	0	0	6131	971	34	2	2230	2	FSTL4	5	132736489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198856	132736489	48178771	4652	28154											
C5orf15	56951	broad.mit.edu	37	chr5	133295380	133295380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtcgtccctggggccCgtggtccagtcatagtctgg	3	11	14	13	4	2	0	1	0	1	0	7	0	4	0	3	4	0	0	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133295380C>T	ENST00000231512.3	-	2	673	c.471G>A	c.(469-471)acG>acA	p.T157T	C5orf15_ENST00000507191.1_5'UTR	NM_020199.2	NP_064584.1	Q8NC54	KCT2_HUMAN	chromosome 5 open reading frame 15	157						integral to membrane				endometrium(2)|large_intestine(1)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.00806)|Kidney(363;0.02)			CCCTGGGGCCCGTGGTCCAGT	0.478													T	133295380	C	T	133295380	2	4	364	1	0	0	0	0	0	0	0	1	2305	639	23	1		1	C5orf15	5	133295380	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	558891	133295380	47619880	4653	28155											
PPP2CA	5515	broad.mit.edu	37	chr5	133534873	133534873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaatcgttactacattcCggtcatggcaccagttatat	12	13	7	9	2	1	1	1	1	0	0	3	1	2	1	2	2	2	3	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133534873C>T	ENST00000481195.1	-	6	1041	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACTACATTCCGGTCATGGCA	0.368													T	133534873	C	T	133534873	3	4	364	1	0	0	0	0	1	0	0	0	12462	652	23	1	176	1	PPP2CA	5	133534873	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	239493	133534873	47380387	4654	28156											
PPP2CA	5515	broad.mit.edu	37	chr5	133536734	133536734	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatccagtgtatctataGatggcgagagaccaccatgt	12	11	10	8	1	1	3	0	1	1	2	2	5	2	3	3	1	0	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133536734G>T	ENST00000481195.1	-	4	798	c.518C>A	c.(517-519)tCt>tAt	p.S173Y	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTATCTATAGATGGCGAGAG	0.373													T	133536734	G	T	133536734	3	4	364	1	0	0	0	0	1	0	0	0	12462	942	33	4	427	4	PPP2CA	5	133536734	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1861	133536734	47378526	4655	28157											
PPP2CA	5515	broad.mit.edu	37	chr5	133541666	133541666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaataatatcctctgtcaaCataatctcccataaacaagt	16	12	3	10	0	3	1	1	1	2	0	5	1	4	1	2	0	2	0	2	0	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133541666C>T	ENST00000481195.1	-	2	539	c.259G>A	c.(259-261)Gtt>Att	p.V87I	PPP2CA_ENST00000231504.5_5'UTR|CTD-2410N18.5_ENST00000519718.1_Intron|CDKL3_ENST00000609654.1_Missense_Mutation_p.V437I|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000609383.1_3'UTR	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCTCTGTCAACATAATCTCCC	0.373													T	133541666	C	T	133541666	3	4	364	1	0	0	0	0	1	0	0	0	12462	478	17	2	694	2	PPP2CA	5	133541666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4932	133541666	47373594	4656	28158											
SEC24A	10802	broad.mit.edu	37	chr5	133996919	133996919	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaaagactttgaatccaGtctctggacagtctaactat	13	11	7	10	0	2	2	0	1	2	1	4	3	3	3	1	1	2	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:133996919G>T	ENST00000398844.2	+	2	496	c.208G>T	c.(208-210)Gtc>Ttc	p.V70F	SEC24A_ENST00000322887.4_Missense_Mutation_p.V70F	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	70					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTTGAATCCAGTCTCTGGACA	0.473													T	133996919	G	T	133996919	3	4	364	1	0	0	0	0	1	0	0	0	14087	1029	36	4	214	4	SEC24A	5	133996919	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	455253	133996919	46918341	4657	28159											
SEC24A	10802	broad.mit.edu	37	chr5	134023989	134023989	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatagtttcagatattgaaGgtatagatttattgaactac	15	16	7	3	0	1	4	1	2	0	2	1	4	1	4	0	1	2	2	0	1	9	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134023989G>T	ENST00000398844.2	+	11	2011	c.1723G>T	c.(1723-1725)Gat>Tat	p.D575Y	SEC24A_ENST00000322887.4_Splice_Site_p.D575Y	NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	575					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGATATTGAAGGTATAGATTT	0.308													T	134023989	G	T	134023989	5	4	364	1	0	0	0	0	0	0	1	0	14087	1014	35	4	1765	4	SEC24A	5	134023989	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27070	134023989	46891271	4658	28160											
SEC24A	10802	broad.mit.edu	37	chr5	134059261	134059261	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttggttaacagacagAccttccagaacttgatacac	12	12	8	9	0	0	4	0	1	0	3	1	4	1	4	2	2	3	2	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134059261A>C	ENST00000398844.2	+	22	3356	c.3068A>C	c.(3067-3069)gAc>gCc	p.D1023A		NM_021982.2	NP_068817.1	O95486	SC24A_HUMAN	SEC24 family member A	1023					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding			NS(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	36			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TAACAGACAGACCTTCCAGAA	0.308													C	134059261	A	C	134059261	3	2	364	1	0	0	0	0	1	0	0	0	14087	275	10	5	3154	5	SEC24A	5	134059261	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35272	134059261	46855999	4659	28161											
DDX46	9879	broad.mit.edu	37	chr5	134109457	134109457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagaaaaatggcgagaagaGcaacgtaaaaaggctatgga	19	5	13	4	2	0	3	0	0	0	3	0	5	0	4	0	3	2	4	0	3	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134109457G>A	ENST00000452510.2	+	5	677	c.519G>A	c.(517-519)gaG>gaA	p.E173E	DDX46_ENST00000354283.4_Silent_p.E173E	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	173					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCGAGAAGAGCAACGTAAAA	0.373													A	134109457	G	A	134109457	2	1	364	1	0	0	0	0	0	0	0	1	4398	962	34	2		2	DDX46	5	134109457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50196	134109457	46805803	4660	28162											
DDX46	9879	broad.mit.edu	37	chr5	134113367	134113367	+	Frame_Shift_Del	DEL	A	A	-																															gaagaagtgaaagaggaagtAaaaaaatttaacatgagaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134113367delA	ENST00000452510.2	+	6	875	c.717delA	c.(715-717)gtafs	p.V239fs	DDX46_ENST00000354283.4_Frame_Shift_Del_p.V239fs	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	239					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAGGAAGTAAAAAAATTTA	0.378													-	134113367	A	-	134113367	7	5	364	1	0	1	0	1	0	0	0	0	4398	349	13	0	739	0	DDX46	5	134113367	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	3910	134113367	46801893	4661	28163											
DDX46	9879	broad.mit.edu	37	chr5	134124246	134124246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattattgtttgcacacCtggtcgaatgattgacatgt	11	15	9	6	1	0	3	0	3	0	0	1	4	0	3	1	1	1	2	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134124246C>A	ENST00000452510.2	+	12	1666	c.1508C>A	c.(1507-1509)cCt>cAt	p.P503H	DDX46_ENST00000354283.4_Missense_Mutation_p.P503H|DDX46_ENST00000509178.1_3'UTR	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	503	Helicase ATP-binding.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GTTTGCACACCTGGTCGAATG	0.308													A	134124246	C	A	134124246	3	1	364	1	0	0	0	0	1	0	0	0	4398	681	24	4	1554	4	DDX46	5	134124246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10879	134124246	46791014	4662	28164											
DDX46	9879	broad.mit.edu	37	chr5	134146948	134146948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcacagaggatcaagctcGctatgctggtgacataatta	13	11	9	8	1	2	2	2	1	0	1	3	3	2	3	0	2	2	3	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134146948G>A	ENST00000452510.2	+	17	2344	c.2186G>A	c.(2185-2187)cGc>cAc	p.R729H	DDX46_ENST00000354283.4_Missense_Mutation_p.R729H	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	729	Helicase C-terminal.				mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GATCAAGCTCGCTATGCTGGT	0.373													A	134146948	G	A	134146948	3	1	364	1	0	0	0	0	1	0	0	0	4398	1087	38	1	2252	1	DDX46	5	134146948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22702	134146948	46768312	4663	28165											
DDX46	9879	broad.mit.edu	37	chr5	134152280	134152280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatgcccagaagaatttggGcatcgagtctcaggtattaa	13	10	10	8	1	1	2	1	0	1	2	3	3	1	2	1	2	1	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134152280G>A	ENST00000452510.2	+	19	2755	c.2597G>A	c.(2596-2598)gGc>gAc	p.G866D	DDX46_ENST00000354283.4_Missense_Mutation_p.G866D	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	866					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAGAATTTGGGCATCGAGTCT	0.368													A	134152280	G	A	134152280	3	1	364	1	0	0	0	0	1	0	0	0	4398	1203	42	2	2671	2	DDX46	5	134152280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5332	134152280	46762980	4664	28166											
C5orf24	134553	broad.mit.edu	37	chr5	134190879	134190879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccggccttcgggaaccAccaaatcagcaggataccgg	10	5	13	13	3	1	0	1	0	0	0	2	2	1	2	5	5	3	1	5	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134190879A>G	ENST00000394976.3	+	2	517	c.289A>G	c.(289-291)Acc>Gcc	p.T97A	C5orf24_ENST00000338051.4_Missense_Mutation_p.T97A|C5orf24_ENST00000435259.2_Missense_Mutation_p.T97A|C5orf24_ENST00000504727.1_Missense_Mutation_p.T97A	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	97										breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTCGGGAACCACCAAATCAGC	0.493													G	134190879	A	G	134190879	3	3	364	1	0	0	0	0	1	0	0	0	2309	159	6	3	291	3	C5orf24	5	134190879	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38599	134190879	46724381	4665	28167											
PITX1	5307	broad.mit.edu	37	chr5	134367153	134367153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccgcagcccgtgcctcccGcaccactgtcctcgggcccc	3	5	10	23	5	0	0	0	0	0	0	3	0	2	0	8	1	2	2	8	1	0	0	rs139844695		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134367153G>A	ENST00000265340.7	-	2	631	c.215C>T	c.(214-216)gCg>gTg	p.A72V	PITX1_ENST00000506438.1_Missense_Mutation_p.A72V	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	72						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		CGTGCCTCCCGCACCACTGTC	0.677													A	134367153	G	A	134367153	3	1	364	1	0	0	0	0	1	0	0	0	12031	1087	38	1	737	1	PITX1	5	134367153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176274	134367153	46548107	4666	28168											
H2AFY	9555	broad.mit.edu	37	chr5	134679121	134679121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccatggcctgcgctgacaGcagctagtggtgcggggatg	6	7	18	10	2	0	1	0	1	0	0	0	2	0	2	2	5	4	3	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134679121G>A	ENST00000511689.1	-	8	1375	c.782C>T	c.(781-783)gCt>gTt	p.A261V	H2AFY_ENST00000312469.4_Missense_Mutation_p.A258V|CTC-349C3.1_ENST00000432382.3_Missense_Mutation_p.A135T|H2AFY_ENST00000423969.2_Missense_Mutation_p.A89V|H2AFY_ENST00000510038.1_Missense_Mutation_p.A261V|H2AFY_ENST00000304332.4_Missense_Mutation_p.A260V|H2AFY_ENST00000512507.1_5'UTR	NM_001040158.1|NM_138610.2	NP_001035248.1|NP_613258.2	O75367	H2AY_HUMAN	H2A histone family, member Y	261	Macro.				chromatin modification|dosage compensation|nucleosome assembly	Barr body|nucleosome	DNA binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCGCTGACAGCAGCTAGTGG	0.517													A	134679121	G	A	134679121	3	1	364	1	0	0	0	0	1	0	0	0	6984	971	34	2	344	2	H2AFY	5	134679121	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311968	134679121	46236139	4667	28169											
TIFAB	497189	broad.mit.edu	37	chr5	134785473	134785473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggtgacggcgggagaGgcgagggagctgcagctgga	9	3	22	7	3	0	2	0	1	0	1	0	7	0	5	0	7	3	3	0	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:134785473G>A	ENST00000537858.1	-	2	357	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	53	FHA.									breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGGCGGGAGAGGCGAGGGAGC	0.657													A	134785473	G	A	134785473	3	1	364	1	0	0	0	0	1	0	0	0	15995	1000	35	2	332	2	TIFAB	5	134785473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106352	134785473	46129787	4668	28170											
IL9	3578	broad.mit.edu	37	chr5	135231130	135231130	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatttcactatacttacaGagggaatgcccaaacagaga	15	10	8	8	0	1	2	1	0	0	2	1	4	1	3	1	1	4	1	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135231130G>T	ENST00000274520.1	-	3	192	c.182C>A	c.(181-183)tCt>tAt	p.S61Y		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	61					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TATACTTACAGAGGGAATGCC	0.294													T	135231130	G	T	135231130	5	4	364	1	0	0	0	0	0	0	1	0	7765	956	33	4	264	4	IL9	5	135231130	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	445657	135231130	45684130	4669	28171											
TGFBI	7045	broad.mit.edu	37	chr5	135392419	135392419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccgggaaggagtctacaCagtctttgctcccacaaatg	12	8	9	12	1	2	0	0	0	2	0	3	2	3	2	2	2	3	1	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135392419C>T	ENST00000442011.2	+	12	1774	c.1613C>T	c.(1612-1614)aCa>aTa	p.T538I	TGFBI_ENST00000305126.8_Missense_Mutation_p.T538I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	538	FAS1 4.		T -> R (in CDL1; delayed age of onset).		angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTACACAGTCTTTGCT	0.507													T	135392419	C	T	135392419	3	4	364	1	0	0	0	0	1	0	0	0	15920	478	17	2	1659	2	TGFBI	5	135392419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161289	135392419	45522841	4670	28172											
TRPC7	57113	broad.mit.edu	37	chr5	135583405	135583405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatgatctgagggtctgaaGgccaccacttgtccctggct	8	11	11	11	0	2	3	0	3	2	0	3	3	3	3	3	3	0	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:135583405G>T	ENST00000513104.1	-	7	1880	c.1598C>A	c.(1597-1599)cCt>cAt	p.P533H	TRPC7_ENST00000426057.2_Missense_Mutation_p.P417H|TRPC7_ENST00000355180.3_Missense_Mutation_p.P472H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	533					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGGGTCTGAAGGCCACCACTT	0.498													T	135583405	G	T	135583405	3	4	364	1	0	0	0	0	1	0	0	0	16685	1000	35	4	1014	4	TRPC7	5	135583405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190986	135583405	45331855	4671	28173											
PKD2L2	27039	broad.mit.edu	37	chr5	137242000	137242000	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgactattttattgcttcCtgtgaaatcacattctgtat	10	19	5	7	0	2	2	1	2	1	0	3	2	3	2	1	0	1	2	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137242000C>A	ENST00000508638.1	+	6	907	c.852C>A	c.(850-852)tcC>tcA	p.S284S	PKD2L2_ENST00000350250.4_Silent_p.S250S|PKD2L2_ENST00000508883.1_Silent_p.S284S|PKD2L2_ENST00000502810.1_Silent_p.S284S|PKD2L2_ENST00000290431.5_Silent_p.S284S	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	284						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTATTGCTTCCTGTGAAATCA	0.338													A	137242000	C	A	137242000	2	1	364	1	0	0	0	0	0	0	0	1	12045	668	24	4		4	PKD2L2	5	137242000	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1658595	137242000	43673260	4672	28174											
FAM13B	51306	broad.mit.edu	37	chr5	137289855	137289855	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacataaaaatcatatacCtagtaaaagacagtgcttta	19	11	5	6	0	1	1	1	0	0	1	1	1	1	1	1	0	3	3	1	0	10	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137289855C>A	ENST00000033079.3	-	14	2103	c.1652G>T	c.(1651-1653)aGa>aTa	p.R551I	FAM13B_ENST00000425075.2_Splice_Site_p.R455I|FAM13B_ENST00000420893.2_Splice_Site_p.R551I	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	551					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AATCATATACCTAGTAAAAGA	0.388													A	137289855	C	A	137289855	5	1	364	1	0	0	0	0	0	0	1	0	5498	695	24	4	1135	4	FAM13B	5	137289855	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47855	137289855	43625405	4673	28175											
FAM13B	51306	broad.mit.edu	37	chr5	137295347	137295347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattcttcagatctaaatGtggaatactgacacacgctg	14	11	7	9	1	3	2	1	1	2	1	3	3	3	3	0	1	2	1	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137295347G>A	ENST00000033079.3	-	13	1850	c.1399C>T	c.(1399-1401)Cat>Tat	p.H467Y	FAM13B_ENST00000425075.2_Missense_Mutation_p.H349Y|FAM13B_ENST00000420893.2_Missense_Mutation_p.H467Y	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	467					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						AGATCTAAATGTGGAATACTG	0.398													A	137295347	G	A	137295347	3	1	364	1	0	0	0	0	1	0	0	0	5498	1377	48	2	1462	2	FAM13B	5	137295347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5492	137295347	43619913	4674	28176											
FAM13B	51306	broad.mit.edu	37	chr5	137342722	137342722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggatgttttcagtcaTccttaattgtaccacctctg	8	16	6	11	0	3	0	2	0	1	0	5	1	5	1	4	1	1	2	4	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137342722T>C	ENST00000033079.3	-	7	1256	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FAM13B_ENST00000425075.2_Missense_Mutation_p.M151V|FAM13B_ENST00000420893.2_Missense_Mutation_p.M269V	NM_016603.2	NP_057687.2	Q9NYF5	FA13B_HUMAN	family with sequence similarity 13, member B	269					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			endometrium(4)|kidney(2)|lung(5)	11						TTTTCAGTCATCCTTAATTGT	0.373													C	137342722	T	C	137342722	3	2	364	1	0	0	0	0	1	0	0	0	5498	1435	50	3	2080	3	FAM13B	5	137342722	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47375	137342722	43572538	4675	28177											
CDC23	8697	broad.mit.edu	37	chr5	137527974	137527974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgaagctggtgggcccGtctataataataaaggcagt	12	10	11	8	2	1	0	0	0	1	0	1	1	1	0	2	3	2	2	2	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137527974G>A	ENST00000394886.2	-	11	1300	c.1270C>T	c.(1270-1272)Cgg>Tgg	p.R424W		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	424					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGGTGGGCCCGTCTATAATAA	0.438													A	137527974	G	A	137527974	3	1	364	1	0	0	0	0	1	0	0	0	3091	1144	40	1	547	1	CDC23	5	137527974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185252	137527974	43387286	4676	28178											
CDC23	8697	broad.mit.edu	37	chr5	137536863	137536863	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcaagggcaaaacatgaGtagcttccacaaacacatca	18	6	7	10	0	1	1	1	1	0	0	2	1	2	1	1	1	4	4	1	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137536863G>T	ENST00000394886.2	-	6	617	c.587C>A	c.(586-588)aCt>aAt	p.T196N		NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	196					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			CAAAACATGAGTAGCTTCCAC	0.418													T	137536863	G	T	137536863	3	4	364	1	0	0	0	0	1	0	0	0	3091	1029	36	4	1250	4	CDC23	5	137536863	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8889	137536863	43378397	4677	28179											
CDC23	8697	broad.mit.edu	37	chr5	137548861	137548861	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catttgctactgtgtagtagGccccgctcccgggtaaggcc	6	10	12	13	2	0	0	0	0	0	0	1	0	1	0	4	3	2	5	4	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137548861G>A	ENST00000394886.2	-	1	171	c.141C>T	c.(139-141)ggC>ggT	p.G47G	CDC23_ENST00000394884.3_Silent_p.G47G|CDC23_ENST00000505120.1_Silent_p.G47G	NM_004661.3	NP_004652.2	Q9UJX2	CDC23_HUMAN	cell division cycle 23	47					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1 phase of mitotic cell cycle|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase plate congression|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of exit from mitosis	anaphase-promoting complex|cytosol|nucleoplasm	binding|ubiquitin-protein ligase activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(6)|prostate(2)|skin(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TGTGTAGTAGGCCCCGCTCCC	0.552													A	137548861	G	A	137548861	2	1	364	1	0	0	0	0	0	0	0	1	3091	1190	42	2		2	CDC23	5	137548861	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11998	137548861	43366399	4678	28180											
CDC25C	995	broad.mit.edu	37	chr5	137627773	137627773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttcaagttctctggcatCgacggggagcgatataggcc	8	10	13	10	3	2	0	1	0	1	0	4	3	2	1	1	4	1	3	1	4	3	4	rs116617843	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137627773C>T	ENST00000323760.6	-	8	926	c.648G>A	c.(646-648)tcG>tcA	p.S216S	CDC25C_ENST00000513970.1_Silent_p.S216S|CDC25C_ENST00000356505.3_Silent_p.S186S|CDC25C_ENST00000357274.3_Silent_p.S173S|CDC25C_ENST00000348983.3_Silent_p.S143S|CDC25C_ENST00000514555.1_Silent_p.S186S|CDC25C_ENST00000415130.2_Silent_p.S143S	NM_001790.3	NP_001781.2	P30307	MPIP3_HUMAN	cell division cycle 25C	216					cell cycle checkpoint|cell division|cell proliferation|DNA replication|G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm	protein tyrosine phosphatase activity|WW domain binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(5)|skin(1)	16			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCTCTGGCATCGACGGGGAGC	0.448													T	137627773	C	T	137627773	2	4	364	1	0	0	0	0	0	0	0	1	3094	871	31	1		1	CDC25C	5	137627773	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78912	137627773	43287487	4679	28181											
KDM3B	51780	broad.mit.edu	37	chr5	137717216	137717216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactgtagagtggtgagatCaagtcggtagatcccagact	11	10	12	8	1	1	4	1	1	0	4	3	5	2	4	1	2	1	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137717216C>T	ENST00000314358.5	+	6	917	c.717C>T	c.(715-717)atC>atT	p.I239I		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	239					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTGGTGAGATCAAGTCGGTAG	0.383													T	137717216	C	T	137717216	2	4	364	1	0	0	0	0	0	0	0	1	8185	816	29	2		2	KDM3B	5	137717216	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89443	137717216	43198044	4680	28182											
KDM3B	51780	broad.mit.edu	37	chr5	137721803	137721803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggaggaggaaaagtgcttcGgactctgggtgtgaccctgc	8	8	16	9	2	1	1	0	1	1	0	2	5	1	5	1	5	2	1	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721803G>A	ENST00000314358.5	+	7	1073	c.873G>A	c.(871-873)tcG>tcA	p.S291S		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	291					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						AAAGTGCTTCGGACTCTGGGT	0.493													A	137721803	G	A	137721803	2	1	364	1	0	0	0	0	0	0	0	1	8185	1103	39	1		1	KDM3B	5	137721803	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4587	137721803	43193457	4681	28183											
KDM3B	51780	broad.mit.edu	37	chr5	137721960	137721960	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagccaagcagccaccgTctacatttgtcccccagata	12	7	8	14	1	1	2	0	0	1	2	2	3	2	2	5	0	4	1	5	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137721960T>A	ENST00000314358.5	+	7	1230	c.1030T>A	c.(1030-1032)Tct>Act	p.S344T	KDM3B_ENST00000394866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	344					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GCAGCCACCGTCTACATTTGT	0.572													A	137721960	T	A	137721960	3	1	364	1	0	0	0	0	1	0	0	0	8185	1667	58	5	1056	5	KDM3B	5	137721960	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157	137721960	43193300	4682	28184											
EGR1	1958	broad.mit.edu	37	chr5	137803019	137803019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctctgtctactattaaggCctttgccactcagtcgggct	6	13	8	14	1	3	0	1	0	2	0	4	0	3	0	3	2	2	1	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:137803019C>T	ENST00000239938.4	+	2	1153	c.881C>T	c.(880-882)gCc>gTc	p.A294V		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	294					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			ACTATTAAGGCCTTTGCCACT	0.627													T	137803019	C	T	137803019	3	4	364	1	0	0	0	0	1	0	0	0	5010	739	26	2	887	2	EGR1	5	137803019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81059	137803019	43112241	4683	28185											
CTNNA1	1495	broad.mit.edu	37	chr5	138264967	138264967	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggatgactctgactttgaGacagaagattttgatgtcag	11	14	11	5	0	2	6	1	4	1	3	2	8	2	7	0	1	0	0	0	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138264967G>A	ENST00000302763.7	+	14	2022	c.1932G>A	c.(1930-1932)gaG>gaA	p.E644E	CTNNA1_ENST00000540387.1_Silent_p.E274E|CTNNA1_ENST00000355078.5_Silent_p.E541E|CTNNA1_ENST00000518825.1_Silent_p.E644E	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	644					adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTGACTTTGAGACAGAAGATT	0.582													A	138264967	G	A	138264967	2	1	364	1	0	0	0	0	0	0	0	1	4045	933	33	2		2	CTNNA1	5	138264967	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	461948	138264967	42650293	4684	28186											
SIL1	64374	broad.mit.edu	37	chr5	138362650	138362650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcagttcctcaatggggCggaagagccgctttacctca	8	11	10	12	2	4	1	3	0	1	1	5	2	5	2	3	3	2	2	3	3	3	4	rs138300781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:138362650C>T	ENST00000394817.2	-	6	624	c.485G>A	c.(484-486)cGc>cAc	p.R162H	CTB-46B19.2_ENST00000512875.2_RNA|SIL1_ENST00000265195.5_Missense_Mutation_p.R162H|SIL1_ENST00000509534.1_Missense_Mutation_p.R169H	NM_022464.4	NP_071909.1	Q9H173	SIL1_HUMAN	SIL1 nucleotide exchange factor	162	Interaction with HSPA5 and localization to the endoplasmic reticulum (By similarity).				intracellular protein transport|protein folding|transmembrane transport	endoplasmic reticulum lumen	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CTCAATGGGGCGGAAGAGCCG	0.473									Marinesco-Sjgren syndrome				T	138362650	C	T	138362650	3	4	364	1	0	0	0	0	1	0	0	0	14415	768	27	1	920	1	SIL1	5	138362650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97683	138362650	42552610	4685	28187											
PSD2	84249	broad.mit.edu	37	chr5	139193812	139193812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgagctcagcagctcggaGgggttggagcctggtagtgc	6	9	17	9	1	2	1	1	1	1	0	3	3	2	3	1	5	5	5	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139193812G>T	ENST00000274710.3	+	4	1084	c.879G>T	c.(877-879)gaG>gaT	p.E293D		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	293	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGCTCGGAGGGGTTGGAGC	0.632													T	139193812	G	T	139193812	3	4	364	1	0	0	0	0	1	0	0	0	12732	991	35	4	889	4	PSD2	5	139193812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	831162	139193812	41721448	4686	28188											
PSD2	84249	broad.mit.edu	37	chr5	139216472	139216472	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacgaagaaggtgacgCgaatcctggatggtggcaac	12	5	15	9	3	0	2	0	1	0	1	1	5	1	3	1	5	1	2	1	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139216472C>T	ENST00000274710.3	+	10	1685	c.1480C>T	c.(1480-1482)Cga>Tga	p.R494*		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	494					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAAGGTGACGCGAATCCTGGA	0.577													T	139216472	C	T	139216472	4	4	364	1	0	0	0	0	0	1	0	0	12732	760	27	1	1514	1	PSD2	5	139216472	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22660	139216472	41698788	4687	28189											
PURA	5813	broad.mit.edu	37	chr5	139494544	139494544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcgcaactccatcaccgtgCcctacaaggtgtgggccaag	10	7	10	14	2	1	0	1	0	0	0	3	0	2	0	4	2	3	1	4	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139494544C>T	ENST00000331327.3	+	1	837	c.778C>T	c.(778-780)Ccc>Tcc	p.P260S		NM_005859.4	NP_005850.1	Q00577	PURA_HUMAN	purine-rich element binding protein A	260					DNA unwinding involved in replication|DNA-dependent DNA replication initiation	DNA replication factor A complex	double-stranded telomeric DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|single-stranded DNA binding|transcription factor binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCACCGTGCCCTACAAGGT	0.547													T	139494544	C	T	139494544	3	4	364	1	0	0	0	0	1	0	0	0	12915	739	26	2	780	2	PURA	5	139494544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278072	139494544	41420716	4688	28190											
SLC4A9	83697	broad.mit.edu	37	chr5	139742030	139742031	+	Splice_Site	INS	-	-	T																															ggcctggttccttcctcaggINStttttctgccttctcctggg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139742030_139742031insT	ENST00000230993.6	+	6	827_828	c.792_793insT	c.(793-795)ttt>Tttt	p.F265fs	SLC4A9_ENST00000507527.1_Splice_Site_p.F265fs|SLC4A9_ENST00000432095.2_Splice_Site_p.F241fs|SLC4A9_ENST00000506757.2_Splice_Site_p.F241fs|SLC4A9_ENST00000506545.1_Splice_Site_p.F241fs	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	265						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTCCTCAGGTTTTTCTGCCT	0.594													T	139742031	-	T	139742030	8	5	364	1	0	1	1	0	0	0	1	0	14754	1275	44	0	742	0	SLC4A9	5	139742030	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	247486	139742030	41173230	4689	28191											
ANKHD1	54882	broad.mit.edu	37	chr5	139876355	139876356	+	Frame_Shift_Ins	INS	-	-	A																															agcaagtccagaagaagaagINSaaaatattgaaagaactgca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139876355_139876356insA	ENST00000297183.6	+	15	2620_2621	c.2496_2497insA	c.(2497-2499)aaafs	p.K833fs	ANKHD1-EIF4EBP3_ENST00000532219.1_Frame_Shift_Ins_p.K833fs|ANKHD1_ENST00000462121.1_3'UTR|ANKHD1_ENST00000360839.2_Frame_Shift_Ins_p.K833fs	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAAGAAGAAGAAAATATTGAA	0.376													A	139876356	-	A	139876355	7	5	364	1	0	1	1	0	0	0	0	0	628	933	33	0	2660	0	ANKHD1	5	139876355	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	134325	139876355	41038905	4690	28192											
ANKHD1	54882	broad.mit.edu	37	chr5	139887505	139887505	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcggaacacggctctcacCctggcctgtttccagggccg	7	8	11	15	3	1	0	1	0	1	0	4	1	2	1	4	4	1	2	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139887505C>A	ENST00000297183.6	+	20	3811	c.3687C>A	c.(3685-3687)acC>acA	p.T1229T	ANKHD1_ENST00000360839.2_Silent_p.T1229T|ANKHD1-EIF4EBP3_ENST00000532219.1_Silent_p.T1229T	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGCTCTCACCCTGGCCTGTT	0.463													A	139887505	C	A	139887505	2	1	364	1	0	0	0	0	0	0	0	1	628	610	22	4		4	ANKHD1	5	139887505	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11150	139887505	41027755	4691	28193											
ANKHD1	54882	broad.mit.edu	37	chr5	139909249	139909249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcacgagttgctacaGatgcctctttcactgttcag	7	14	8	12	1	4	1	3	0	1	1	5	2	5	1	2	0	3	3	2	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:139909249G>T	ENST00000297183.6	+	29	6842	c.6718G>T	c.(6718-6720)Gat>Tat	p.D2240Y	ANKHD1_ENST00000360839.2_Missense_Mutation_p.D2240Y|ANKHD1_ENST00000544120.1_Missense_Mutation_p.D623Y|ANKHD1-EIF4EBP3_ENST00000532219.1_Missense_Mutation_p.D2240Y	NM_020690.5	NP_065741.3			ankyrin repeat and KH domain containing 1											breast(2)|endometrium(8)|kidney(6)|large_intestine(14)|lung(18)|ovary(5)|prostate(2)|skin(3)|urinary_tract(2)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTTGCTACAGATGCCTCTTT	0.502													T	139909249	G	T	139909249	3	4	364	1	0	0	0	0	1	0	0	0	628	942	33	4	6938	4	ANKHD1	5	139909249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21744	139909249	41006011	4692	28194											
TMCO6	55374	broad.mit.edu	37	chr5	140023377	140023377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcagctggcatgccccGtgcttcgatgtctaagcaac	7	11	10	13	2	1	0	0	0	1	0	2	1	1	0	2	1	6	5	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140023377G>A	ENST00000394671.3	+	9	1032	c.931G>A	c.(931-933)Gtg>Atg	p.V311M	TMCO6_ENST00000252100.6_Missense_Mutation_p.V317M|TMCO6_ENST00000537378.1_Missense_Mutation_p.V71M|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	311					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity	p.V311M(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCATGCCCCGTGCTTCGATG	0.502													A	140023377	G	A	140023377	3	1	364	1	0	0	0	0	1	0	0	0	16100	1145	40	1	965	1	TMCO6	5	140023377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114128	140023377	40891883	4693	28195											
IK	3550	broad.mit.edu	37	chr5	140041219	140041219	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caacagggtaacaagaagggGcccttaggccgttgggactt	11	7	14	9	1	0	1	0	0	0	1	0	2	0	2	2	5	2	2	2	5	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140041219G>A	ENST00000417647.2	+	17	1567	c.1428G>A	c.(1426-1428)ggG>ggA	p.G476G		NM_006083.3	NP_006074.2	Q13123	RED_HUMAN	IK cytokine, down-regulator of HLA II	476					cell-cell signaling|immune response	extracellular space|nucleus|soluble fraction				large_intestine(1)	1		all_hematologic(541;4.8e-07)|all_lung(500;0.000434)|Lung NSC(810;0.00161)|Breast(839;0.128)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAAGAAGGGGCCCTTAGGCC	0.498													A	140041219	G	A	140041219	2	1	364	1	0	0	0	0	0	0	0	1	7666	1190	42	2		2	IK	5	140041219	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17842	140041219	40874041	4694	28196											
WDR55	54853	broad.mit.edu	37	chr5	140049100	140049100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggatgactaccgtcggcGcaaaaaaaagggaggaccac	14	4	14	9	3	0	1	0	1	0	0	1	4	0	4	2	5	1	1	2	5	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140049100G>A	ENST00000358337.5	+	7	1250	c.1013G>A	c.(1012-1014)cGc>cAc	p.R338H	WDR55_ENST00000520764.1_3'UTR	NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	338					rRNA processing	cytoplasm|nucleolus		p.R338H(1)		NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TACCGTCGGCGCAAAAAAAAG	0.592													A	140049100	G	A	140049100	3	1	364	1	0	0	0	0	1	0	0	0	17409	1087	38	1	1039	1	WDR55	5	140049100	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7881	140049100	40866160	4695	28197											
HARS	3035	broad.mit.edu	37	chr5	140056271	140056271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccacgatggagaaaatccGctccaccccaatgctgagcc	11	7	8	15	2	0	2	0	1	0	1	3	4	3	2	6	1	2	2	6	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140056271G>A	ENST00000504366.1	-	9	2774	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	HARS_ENST00000307633.3_Missense_Mutation_p.R328W|HARS_ENST00000431330.2_Missense_Mutation_p.R274W|HARS_ENST00000415192.2_Missense_Mutation_p.R314W|HARS_ENST00000457527.2_Missense_Mutation_p.R368W|HARS_ENST00000504156.1_Missense_Mutation_p.R388W|HARS_ENST00000448240.1_Missense_Mutation_p.R193W|HARS_ENST00000438307.2_Missense_Mutation_p.R348W			P12081	SYHC_HUMAN	histidyl-tRNA synthetase	388					histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	GAGAAAATCCGCTCCACCCCA	0.562													A	140056271	G	A	140056271	3	1	364	1	0	0	0	0	1	0	0	0	7014	1086	38	1	383	1	HARS	5	140056271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7171	140056271	40858989	4696	28198											
HARS2	23438	broad.mit.edu	37	chr5	140075366	140075366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctatgatccccgatgCagagtgtttgaagatcatgt	10	12	10	9	1	1	5	1	3	0	2	2	6	2	5	3	0	1	2	3	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140075366C>T	ENST00000230771.3	+	6	792	c.569C>T	c.(568-570)gCa>gTa	p.A190V	HARS2_ENST00000435019.2_Missense_Mutation_p.A150V|HARS2_ENST00000432671.2_Missense_Mutation_p.A76V|HARS2_ENST00000508522.1_Missense_Mutation_p.A165V|HARS2_ENST00000448069.2_Missense_Mutation_p.A51V|HARS2_ENST00000437649.2_Missense_Mutation_p.A116V	NM_012208.2	NP_036340.1	P49590	SYHM_HUMAN	histidyl-tRNA synthetase 2, mitochondrial	190					histidyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(3)|large_intestine(5)|lung(10)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCCCGATGCAGAGTGTTTG	0.448													T	140075366	C	T	140075366	3	4	364	1	0	0	0	0	1	0	0	0	7015	710	25	2	591	2	HARS2	5	140075366	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19095	140075366	40839894	4697	28199											
ZMAT2	153527	broad.mit.edu	37	chr5	140085217	140085217	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaaaaggccaaagcgtAcaagaaagagaaacagaagg	21	1	14	5	1	0	3	0	0	0	3	0	6	0	5	1	4	3	1	1	4	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140085217A>G	ENST00000274712.3	+	6	603	c.476A>G	c.(475-477)tAc>tGc	p.Y159C		NM_144723.1	NP_653324.1	Q96NC0	ZMAT2_HUMAN	zinc finger, matrin-type 2	159						nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(1)|liver(1)|lung(2)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gccaaagcgtacaagaaagag	0.458													G	140085217	A	G	140085217	3	3	364	1	0	0	0	0	1	0	0	0	17793	391	14	3	498	3	ZMAT2	5	140085217	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9851	140085217	40830043	4698	28200											
PCDHA1	56147	broad.mit.edu	37	chr5	140165879	140165879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgtagtccttttgcaatgGtgttttctaggagagggggc	6	14	16	5	0	1	1	0	0	1	1	2	2	2	1	1	5	1	3	1	5	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140165879G>A	ENST00000504120.2	+	1	4	c.4G>A	c.(4-6)Gtg>Atg	p.V2M	PCDHA1_ENST00000378133.3_Missense_Mutation_p.V2M|PCDHA1_ENST00000394633.3_Missense_Mutation_p.V2M	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGCAATGGTGTTTTCTAG	0.483													A	140165879	G	A	140165879	3	1	364	1	0	0	0	0	1	0	0	0	11595	1261	44	2	6	2	PCDHA1	5	140165879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80662	140165879	40749381	4699	28201											
PCDHA1	56147	broad.mit.edu	37	chr5	140167108	140167108	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcgttggtgttggacagCgccctggatcgcgagagcct	6	10	14	11	4	0	1	0	0	0	1	2	4	0	3	2	3	3	2	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167108C>T	ENST00000504120.2	+	1	1233	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	PCDHA1_ENST00000378133.3_Silent_p.S411S|PCDHA1_ENST00000394633.3_Silent_p.S411S	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTGGACAGCGCCCTGGATC	0.632													T	140167108	C	T	140167108	2	4	364	1	0	0	0	0	0	0	0	1	11595	767	27	1		1	PCDHA1	5	140167108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1229	140167108	40748152	4700	28202											
PCDHA1	56147	broad.mit.edu	37	chr5	140167237	140167237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaatgacaacgcgcctgcGttcgcgcagcccgagtacac	9	6	12	14	6	0	2	0	2	0	0	1	3	0	2	2	0	4	3	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140167237G>A	ENST00000504120.2	+	1	1362	c.1362G>A	c.(1360-1362)gcG>gcA	p.A454A	PCDHA1_ENST00000378133.3_Silent_p.A454A|PCDHA1_ENST00000394633.3_Silent_p.A454A	NM_018900.2	NP_061723.1												p.A454A(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGCGCCTGCGTTCGCGCAGC	0.677													A	140167237	G	A	140167237	2	1	364	1	0	0	0	0	0	0	0	1	11595	1132	40	1		1	PCDHA1	5	140167237	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129	140167237	40748023	4701	28203											
PCDHA2	56146	broad.mit.edu	37	chr5	140175795	140175795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggacagcgccctggaccgcGagagcgtgtcagcctatgag	8	6	15	12	4	1	2	1	1	0	1	1	5	1	4	3	2	3	0	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140175795G>A	ENST00000526136.1	+	1	1246	c.1246G>A	c.(1246-1248)Gag>Aag	p.E416K	PCDHA2_ENST00000378132.1_Missense_Mutation_p.E416K|PCDHA2_ENST00000520672.2_Missense_Mutation_p.E416K|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCGCGAGAGCGTGTC	0.627													A	140175795	G	A	140175795	3	1	364	1	0	0	0	0	1	0	0	0	11600	1059	37	1	1248	1	PCDHA2	5	140175795	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8558	140175795	40739465	4702	28204											
PCDHA3	56145	broad.mit.edu	37	chr5	140182354	140182354	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgcgctgcagccgctggaCcacgaggagctagagctgct	8	6	14	13	4	0	1	0	0	0	1	0	4	0	3	2	2	6	6	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182354C>T	ENST00000522353.2	+	1	1572	c.1572C>T	c.(1570-1572)gaC>gaT	p.D524D	PCDHA3_ENST00000532566.2_Silent_p.D524D|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687													T	140182354	C	T	140182354	2	4	364	1	0	0	0	0	0	0	0	1	11601	506	18	2		2	PCDHA3	5	140182354	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6559	140182354	40732906	4703	28205											
PCDHA3	56145	broad.mit.edu	37	chr5	140182502	140182502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcgggtgggtggcatcGgtggcgcagtgagcgagctg	4	8	20	9	4	0	1	0	1	0	0	2	2	0	1	1	5	3	3	1	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182502G>A	ENST00000522353.2	+	1	1720	c.1720G>A	c.(1720-1722)Ggt>Agt	p.G574S	PCDHA3_ENST00000532566.2_Missense_Mutation_p.G574S|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGTGGCATCGGTGGCGCAGT	0.682													A	140182502	G	A	140182502	3	1	364	1	0	0	0	0	1	0	0	0	11601	1116	39	1	1722	1	PCDHA3	5	140182502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148	140182502	40732758	4704	28206											
PCDHA3	56145	broad.mit.edu	37	chr5	140182645	140182645	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accggcggtgcgcgcatcccGtttcgcgtggggctgtacac	4	8	15	14	7	0	0	0	0	0	0	2	0	1	0	2	4	2	4	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140182645G>A	ENST00000522353.2	+	1	1863	c.1863G>A	c.(1861-1863)ccG>ccA	p.P621P	PCDHA3_ENST00000532566.2_Silent_p.P621P|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018906.2	NP_061729.1												p.P621P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGCATCCCGTTTCGCGTGG	0.667													A	140182645	G	A	140182645	2	1	364	1	0	0	0	0	0	0	0	1	11601	1132	40	1		1	PCDHA3	5	140182645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143	140182645	40732615	4705	28207											
PCDHA5	56143	broad.mit.edu	37	chr5	140201478	140201478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatcccggaggaagccaaaCacggaaccttcgttggccgc	10	5	12	14	5	0	0	0	0	0	0	2	4	1	3	4	4	3	1	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140201478C>T	ENST00000529859.1	+	1	118	c.118C>T	c.(118-120)Cac>Tac	p.H40Y	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.H40Y|PCDHA5_ENST00000378126.3_Missense_Mutation_p.H40Y|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCCAAACACGGAACCTT	0.672													T	140201478	C	T	140201478	3	4	364	1	0	0	0	0	1	0	0	0	11603	478	17	2	120	2	PCDHA5	5	140201478	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18833	140201478	40713782	4706	28208											
PCDHA5	56143	broad.mit.edu	37	chr5	140202078	140202078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctaatgataacgccccaGaatttgataaatccatttat	15	13	5	8	1	0	3	0	2	0	1	1	3	1	3	3	0	2	1	3	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140202078G>A	ENST00000529859.1	+	1	718	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.E240K|PCDHA5_ENST00000378126.3_Missense_Mutation_p.E240K|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAACGCCCCAGAATTTGATAA	0.388													A	140202078	G	A	140202078	3	1	364	1	0	0	0	0	1	0	0	0	11603	943	33	2	720	2	PCDHA5	5	140202078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	600	140202078	40713182	4707	28209											
PCDHA5	56143	broad.mit.edu	37	chr5	140203007	140203007	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctctgggcagcaacgtgacGctgcaggtgttcgtgctgga	6	9	15	11	3	1	1	0	1	1	0	2	2	1	2	1	3	4	6	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140203007G>A	ENST00000529859.1	+	1	1647	c.1647G>A	c.(1645-1647)acG>acA	p.T549T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Silent_p.T549T|PCDHA5_ENST00000378126.3_Silent_p.T549T|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAACGTGACGCTGCAGGTGT	0.701													A	140203007	G	A	140203007	2	1	364	1	0	0	0	0	0	0	0	1	11603	1074	38	1		1	PCDHA5	5	140203007	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	929	140203007	40712253	4708	28210											
PCDHA6	56142	broad.mit.edu	37	chr5	140209489	140209489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgactcaggctacaacGcgtggctttcgtatgagctg	8	9	12	12	5	1	1	1	1	0	0	2	2	1	1	1	2	3	4	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209489G>A	ENST00000529310.1	+	1	1927	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGCTACAACGCGTGGCTTTC	0.652													A	140209489	G	A	140209489	3	1	364	1	0	0	0	0	1	0	0	0	11604	1087	38	1	1815	1	PCDHA6	5	140209489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6482	140209489	40705771	4709	28211											
PCDHA6	56142	broad.mit.edu	37	chr5	140209564	140209564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgtggggctgtacacgggcGagatcagcaccactcgtgtc	7	7	15	12	4	1	1	1	0	0	1	3	2	1	1	1	3	2	3	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140209564G>A	ENST00000529310.1	+	1	2002	c.1888G>A	c.(1888-1890)Gag>Aag	p.E630K	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTACACGGGCGAGATCAGCAC	0.662													A	140209564	G	A	140209564	3	1	364	1	0	0	0	0	1	0	0	0	11604	1059	37	1	1890	1	PCDHA6	5	140209564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	140209564	40705696	4710	28212											
PCDHA7	56141	broad.mit.edu	37	chr5	140214409	140214409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcgcggaatccaggccGcttgactctcggtttccact	6	12	9	14	4	2	1	1	1	1	0	6	2	4	2	3	3	0	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140214409G>A	ENST00000525929.1	+	1	441	c.441G>A	c.(439-441)ccG>ccA	p.P147P	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Silent_p.P147P|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATCCAGGCCGCTTGACTCTC	0.547													A	140214409	G	A	140214409	2	1	364	1	0	0	0	0	0	0	0	1	11605	1074	38	1		1	PCDHA7	5	140214409	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4845	140214409	40700851	4711	28213											
PCDHA7	56141	broad.mit.edu	37	chr5	140215580	140215580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttccaggtgagcgcgCgcgatgcgggcgtgccgcct	4	7	17	13	7	0	1	0	1	0	0	1	2	1	1	3	2	4	2	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140215580C>T	ENST00000525929.1	+	1	1612	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.R538C|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGAGCGCGCGCGATGCGGG	0.682													T	140215580	C	T	140215580	3	4	364	1	0	0	0	0	1	0	0	0	11605	768	27	1	1614	1	PCDHA7	5	140215580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1171	140215580	40699680	4712	28214											
PCDHA8	56140	broad.mit.edu	37	chr5	140222793	140222793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtggggctgtacacgggCgagatcagcaccactcgtgt	7	7	15	12	5	1	1	1	0	0	1	2	2	1	1	1	3	2	3	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140222793C>T	ENST00000531613.1	+	1	1887	c.1887C>T	c.(1885-1887)ggC>ggT	p.G629G	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000378123.3_Silent_p.G629G|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTACACGGGCGAGATCAGCA	0.652													T	140222793	C	T	140222793	2	4	364	1	0	0	0	0	0	0	0	1	11606	755	27	1		1	PCDHA8	5	140222793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7213	140222793	40692467	4713	28215											
PCDHA9	9752	broad.mit.edu	37	chr5	140229842	140229842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcggtcggtgggcgccGgcgtagtggtggggaaggtg	3	8	23	7	5	0	0	0	0	0	0	1	1	0	1	1	8	2	2	1	8	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140229842G>A	ENST00000378122.3	+	1	2486	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Missense_Mutation_p.G588S|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGGCGCCGGCGTAGTGGT	0.677													A	140229842	G	A	140229842	3	1	364	1	0	0	0	0	1	0	0	0	11607	1116	39	1	1764	1	PCDHA9	5	140229842	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7049	140229842	40685418	4714	28216											
PCDHA10	56139	broad.mit.edu	37	chr5	140235801	140235801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctggggctggagctggcGgagctggtgcagcgcctgtt	4	8	19	10	2	0	0	0	0	0	0	0	3	0	2	2	6	4	5	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140235801G>A	ENST00000307360.5	+	1	168	c.168G>A	c.(166-168)gcG>gcA	p.A56A	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.A56A|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1												p.A56A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGAGCTGGCGGAGCTGGTGC	0.617													A	140235801	G	A	140235801	2	1	364	1	0	0	0	0	0	0	0	1	11596	1103	39	1		1	PCDHA10	5	140235801	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5959	140235801	40679459	4715	28217											
PCDHA10	56139	broad.mit.edu	37	chr5	140236494	140236494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctctttggtcccacccacGataagaaggaaattttggat	12	11	9	9	1	1	1	0	0	1	1	2	4	2	3	2	3	1	1	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140236494G>A	ENST00000307360.5	+	1	861	c.861G>A	c.(859-861)acG>acA	p.T287T	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Silent_p.T287T|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCCACCCACGATAAGAAGGA	0.363													A	140236494	G	A	140236494	2	1	364	1	0	0	0	0	0	0	0	1	11596	1045	37	1		1	PCDHA10	5	140236494	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	693	140236494	40678766	4716	28218											
PCDHA10	56139	broad.mit.edu	37	chr5	140237081	140237081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcgtgggacgcggacgCgcaggagaacgccctggtgt	6	6	18	11	6	1	1	0	0	1	1	1	4	1	3	1	4	2	1	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140237081C>T	ENST00000307360.5	+	1	1448	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.A483V|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCGGACGCGCAGGAGAAC	0.662													T	140237081	C	T	140237081	3	4	364	1	0	0	0	0	1	0	0	0	11596	768	27	1	1450	1	PCDHA10	5	140237081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	587	140237081	40678179	4717	28219											
PCDHA11	56138	broad.mit.edu	37	chr5	140249195	140249195	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaatgctctattgacCtacaggctaagtaaaaatga	17	9	9	6	0	1	3	0	2	1	1	1	5	1	3	1	1	2	3	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249195C>A	ENST00000398640.2	+	1	507	c.507C>A	c.(505-507)acC>acA	p.T169T	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTATTGACCTACAGGCTAA	0.388													A	140249195	C	A	140249195	2	1	364	1	0	0	0	0	0	0	0	1	11597	668	24	4		4	PCDHA11	5	140249195	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12114	140249195	40666065	4718	28220											
PCDHA11	56138	broad.mit.edu	37	chr5	140249367	140249367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagcttactggcaccgttCggctgttagtccaagtcttg	7	12	11	11	2	1	1	0	0	1	1	3	1	2	1	2	2	2	5	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249367C>T	ENST00000398640.2	+	1	679	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCACCGTTCGGCTGTTAGT	0.413													T	140249367	C	T	140249367	3	4	364	1	0	0	0	0	1	0	0	0	11597	875	31	1	681	1	PCDHA11	5	140249367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	172	140249367	40665893	4719	28221											
PCDHA11	56138	broad.mit.edu	37	chr5	140249965	140249965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatgaactggtggtgactgCgcgggatgggggttcgcctt	5	11	17	8	3	0	2	0	2	0	0	1	3	0	3	1	5	2	1	1	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140249965C>T	ENST00000398640.2	+	1	1277	c.1277C>T	c.(1276-1278)gCg>gTg	p.A426V	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGTGACTGCGCGGGATGGG	0.622													T	140249965	C	T	140249965	3	4	364	1	0	0	0	0	1	0	0	0	11597	768	27	1	1279	1	PCDHA11	5	140249965	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	598	140249965	40665295	4720	28222											
PCDHA11	56138	broad.mit.edu	37	chr5	140250150	140250150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacgcgcaggagaacgcgCtggtgtcctactcgctggtg	6	7	16	12	6	0	1	0	0	0	1	2	3	1	2	1	4	2	3	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250150C>T	ENST00000398640.2	+	1	1462	c.1462C>T	c.(1462-1464)Ctg>Ttg	p.L488L	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGAACGCGCTGGTGTCCTA	0.677													T	140250150	C	T	140250150	2	4	364	1	0	0	0	0	0	0	0	1	11597	796	28	2		2	PCDHA11	5	140250150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	140250150	40665110	4721	28223											
PCDHA11	56138	broad.mit.edu	37	chr5	140250251	140250251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtgtacgcgctgcagccGttggaccacgaggagctgga	9	6	16	10	4	0	0	0	0	0	0	0	4	0	3	2	4	4	5	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140250251G>A	ENST00000398640.2	+	1	1563	c.1563G>A	c.(1561-1563)ccG>ccA	p.P521P	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCAGCCGTTGGACCACG	0.682													A	140250251	G	A	140250251	2	1	364	1	0	0	0	0	0	0	0	1	11597	1132	40	1		1	PCDHA11	5	140250251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101	140250251	40665009	4722	28224											
PCDHA12	56137	broad.mit.edu	37	chr5	140257242	140257242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctcagcgccgcccaccGtgagccggtgcgcgccgggc	3	5	16	17	7	1	1	1	1	0	0	1	1	1	1	5	2	4	2	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140257242G>A	ENST00000398631.2	+	1	2185	c.2185G>A	c.(2185-2187)Gtg>Atg	p.V729M	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1														NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGCCCACCGTGAGCCGGTG	0.647													A	140257242	G	A	140257242	3	1	364	1	0	0	0	0	1	0	0	0	11598	1145	40	1	2187	1	PCDHA12	5	140257242	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6991	140257242	40658018	4723	28225											
PCDHA13	56136	broad.mit.edu	37	chr5	140261984	140261984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcaaaacacggcacctTcgtgggccgcatcgctcagg	10	5	13	13	4	1	0	1	0	0	0	3	1	1	1	2	4	2	4	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140261984T>C	ENST00000289272.2	+	1	131	c.131T>C	c.(130-132)tTc>tCc	p.F44S	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.F44S|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGCACCTTCGTGGGCCGC	0.657													C	140261984	T	C	140261984	3	2	364	1	0	0	0	0	1	0	0	0	11599	1783	62	3	133	3	PCDHA13	5	140261984	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4742	140261984	40653276	4724	28226											
PCDHA13	56136	broad.mit.edu	37	chr5	140263264	140263264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaggaaaacaatccgccgGgctgccacatcttcacggtg	11	7	11	12	3	2	1	1	1	1	0	3	2	3	2	3	3	2	1	3	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140263264G>A	ENST00000289272.2	+	1	1411	c.1411G>A	c.(1411-1413)Ggc>Agc	p.G471S	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.G471S|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATCCGCCGGGCTGCCACAT	0.677													A	140263264	G	A	140263264	3	1	364	1	0	0	0	0	1	0	0	0	11599	1232	43	2	1413	2	PCDHA13	5	140263264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1280	140263264	40651996	4725	28227											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307659	140307659	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggcttcctttgacaactaCtacagcctgctgattgatgg	9	12	9	11	1	0	3	0	3	0	0	1	3	1	3	2	2	5	2	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140307659C>A	ENST00000253807.2	+	1	1182	c.1182C>A	c.(1180-1182)taC>taA	p.Y394*	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Nonsense_Mutation_p.Y394*|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGACAACTACTACAGCCTGC	0.517													A	140307659	C	A	140307659	4	1	364	1	0	0	0	0	0	1	0	0	11608	576	20	4	1184	4	PCDHAC1	5	140307659	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44395	140307659	40607601	4726	28228											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308746	140308746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctcagacttatctctatCgggcctctctgggacttggt	5	16	9	11	1	3	1	1	0	3	1	7	2	3	2	1	3	0	0	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140308746C>T	ENST00000253807.2	+	1	2269	c.2269C>T	c.(2269-2271)Cgg>Tgg	p.R757W	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.R757W|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATCTCTATCGGGCCTCTCT	0.473													T	140308746	C	T	140308746	3	4	364	1	0	0	0	0	1	0	0	0	11608	875	31	1	2271	1	PCDHAC1	5	140308746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1087	140308746	40606514	4727	28229											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347082	140347082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcgggtacggcacagatctCtgtgcgtgtcctggacacta	7	10	12	12	3	1	1	0	0	1	1	4	2	2	2	1	3	2	2	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347082C>T	ENST00000289269.5	+	1	1263	c.731C>T	c.(730-732)tCt>tTt	p.S244F	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		244	Cadherin 2.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACAGATCTCTGTGCGTGTC	0.622													T	140347082	C	T	140347082	3	4	364	1	0	0	0	0	1	0	0	0	11609	913	32	2	733	2	PCDHAC2	5	140347082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38336	140347082	40568178	4728	28230											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347266	140347266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacacgtcggaccgggagagGcagctcttcagcatagatgc	10	7	13	11	3	2	2	1	0	1	2	3	4	2	3	1	3	4	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347266G>A	ENST00000289269.5	+	1	1447	c.915G>A	c.(913-915)agG>agA	p.R305R	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		305	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCGGGAGAGGCAGCTCTTCA	0.572													A	140347266	G	A	140347266	2	1	364	1	0	0	0	0	0	0	0	1	11609	1194	42	2		2	PCDHAC2	5	140347266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	140347266	40567994	4729	28231											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347359	140347359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccagatctatgtgcaGgcgactgaccggggtccagt	8	9	12	12	2	1	2	0	1	1	1	3	3	3	2	4	3	2	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347359G>T	ENST00000289269.5	+	1	1540	c.1008G>T	c.(1006-1008)caG>caT	p.Q336H	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		336	Cadherin 3.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTATGTGCAGGCGACTGACC	0.592													T	140347359	G	T	140347359	3	4	364	1	0	0	0	0	1	0	0	0	11609	991	35	4	1010	4	PCDHAC2	5	140347359	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93	140347359	40567901	4730	28232											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347585	140347585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacactgcctttccgaCtgaatggctttggaaactcc	9	10	9	13	1	0	1	0	1	0	0	2	3	2	2	4	3	2	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140347585C>T	ENST00000289269.5	+	1	1766	c.1234C>T	c.(1234-1236)Ctg>Ttg	p.L412L	PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		412	Cadherin 4.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTTCCGACTGAATGGCTT	0.577													T	140347585	C	T	140347585	2	4	364	1	0	0	0	0	0	0	0	1	11609	564	20	2		2	PCDHAC2	5	140347585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	226	140347585	40567675	4731	28233											
PCDHB1	29930	broad.mit.edu	37	chr5	140431571	140431571	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtctccagaactacaccctGagtgccaatgggtatttcca	10	10	9	12	0	1	2	0	1	1	1	3	2	2	2	4	2	3	1	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140431571G>A	ENST00000306549.3	+	1	593	c.516G>A	c.(514-516)ctG>ctA	p.L172L		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		172	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACTACACCCTGAGTGCCAATG	0.562													A	140431571	G	A	140431571	2	1	364	1	0	0	0	0	0	0	0	1	11610	1277	45	2		2	PCDHB1	5	140431571	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83986	140431571	40483689	4732	28234											
PCDHB1	29930	broad.mit.edu	37	chr5	140432410	140432410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgacaatcctccaatatTtcgggaagattcctatatct	13	14	5	9	1	1	2	0	1	1	1	5	3	4	3	3	1	0	0	3	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140432410T>C	ENST00000306549.3	+	1	1432	c.1355T>C	c.(1354-1356)tTt>tCt	p.F452S		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		452	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTCCAATATTTCGGGAAGAT	0.433													C	140432410	T	C	140432410	3	2	364	1	0	0	0	0	1	0	0	0	11610	1841	64	3	1357	3	PCDHB1	5	140432410	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	839	140432410	40482850	4733	28235											
PCDHB2	56133	broad.mit.edu	37	chr5	140474606	140474606	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaaaaaaaatgcatttgCagttcgataggcagaccggg	16	7	12	6	2	0	1	0	0	0	1	1	3	0	2	1	3	2	4	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140474606C>T	ENST00000194155.4	+	1	380	c.232C>T	c.(232-234)Cag>Tag	p.Q78*		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		78	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGCATTTGCAGTTCGATAG	0.512													T	140474606	C	T	140474606	4	4	364	1	0	0	0	0	0	1	0	0	11618	711	25	2	234	2	PCDHB2	5	140474606	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42196	140474606	40440654	4734	28236											
PCDHB2	56133	broad.mit.edu	37	chr5	140475165	140475165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccgttggatcccaggttgCcatcgtctctgccagggatt	5	11	11	14	2	1	0	0	0	1	0	4	2	2	2	5	3	2	2	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475165C>T	ENST00000194155.4	+	1	939	c.791C>T	c.(790-792)gCc>gTc	p.A264V		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		264	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCCCAGGTTGCCATCGTCTCT	0.468													T	140475165	C	T	140475165	3	4	364	1	0	0	0	0	1	0	0	0	11618	739	26	2	793	2	PCDHB2	5	140475165	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559	140475165	40440095	4735	28237											
PCDHB2	56133	broad.mit.edu	37	chr5	140475745	140475745	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccttcacccaaacctcCtacaccctgttcgtccgcga	7	8	5	21	4	1	0	1	0	0	0	4	1	3	0	7	0	2	1	7	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140475745C>A	ENST00000194155.4	+	1	1519	c.1371C>A	c.(1369-1371)tcC>tcA	p.S457S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		457					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAAACCTCCTACACCCTGT	0.622													A	140475745	C	A	140475745	2	1	364	1	0	0	0	0	0	0	0	1	11618	668	24	4		4	PCDHB2	5	140475745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	580	140475745	40439515	4736	28238											
PCDHB2	56133	broad.mit.edu	37	chr5	140476722	140476722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctcagggtgcagagaGggttagcgaggcaaatccca	10	7	15	9	2	1	1	1	0	0	1	2	3	2	1	1	3	3	5	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140476722G>A	ENST00000194155.4	+	1	2496	c.2348G>A	c.(2347-2349)aGg>aAg	p.R783K		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		783					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCAGAGAGGGTTAGCGAG	0.468													A	140476722	G	A	140476722	3	1	364	1	0	0	0	0	1	0	0	0	11618	1000	35	2	2350	2	PCDHB2	5	140476722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	977	140476722	40438538	4737	28239											
PCDHB3	56132	broad.mit.edu	37	chr5	140481938	140481938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacccgctgcagaacggcTccgcgccctgcaccgagctg	6	6	12	17	5	0	1	0	0	0	1	1	2	1	1	4	1	5	6	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140481938T>C	ENST00000231130.2	+	1	1705	c.1705T>C	c.(1705-1707)Tcc>Ccc	p.S569P		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		569	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCAGAACGGCTCCGCGCCCTG	0.716													C	140481938	T	C	140481938	3	2	364	1	0	0	0	0	1	0	0	0	11619	1551	54	3	1707	3	PCDHB3	5	140481938	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5216	140481938	40433322	4738	28240											
PCDHB4	56131	broad.mit.edu	37	chr5	140501652	140501652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggtgttcttgtctcaGgttcgcctcgagcctattcg	4	16	11	10	3	2	1	1	1	2	0	6	2	2	1	2	2	1	2	2	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140501652G>T	ENST00000194152.1	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		24					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTTGTCTCAGGTTCGCCTCG	0.498													T	140501652	G	T	140501652	3	4	364	1	0	0	0	0	1	0	0	0	11620	991	35	4	74	4	PCDHB4	5	140501652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19714	140501652	40413608	4739	28241											
PCDHB4	56131	broad.mit.edu	37	chr5	140502941	140502941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccgccttcacccaaacctCctacaccctgttcgtccgcg	6	8	5	22	4	1	0	1	0	0	0	4	0	3	0	8	0	2	1	8	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140502941C>T	ENST00000194152.1	+	1	1361	c.1361C>T	c.(1360-1362)tCc>tTc	p.S454F		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		454					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCCAAACCTCCTACACCCTG	0.617													T	140502941	C	T	140502941	3	4	364	1	0	0	0	0	1	0	0	0	11620	855	30	2	1363	2	PCDHB4	5	140502941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1289	140502941	40412319	4740	28242											
PCDHB4	56131	broad.mit.edu	37	chr5	140503114	140503114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacgcagacaacggccacCtgttcgccctcaggtcgctg	8	7	10	16	4	2	1	2	0	0	1	4	1	2	1	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503114C>A	ENST00000194152.1	+	1	1534	c.1534C>A	c.(1534-1536)Ctg>Atg	p.L512M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		512	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAACGGCCACCTGTTCGCCCT	0.692													A	140503114	C	A	140503114	3	1	364	1	0	0	0	0	1	0	0	0	11620	680	24	4	1536	4	PCDHB4	5	140503114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173	140503114	40412146	4741	28243											
PCDHB4	56131	broad.mit.edu	37	chr5	140503618	140503618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaggcggccccggcccagGcccaggccgactctctcacc	5	4	12	20	3	2	1	1	1	1	0	3	2	2	1	6	5	0	0	6	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140503618G>A	ENST00000194152.1	+	1	2038	c.2038G>A	c.(2038-2040)Gcc>Acc	p.A680T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		680					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCGGCCCAGGCCCAGGCCGA	0.701													A	140503618	G	A	140503618	3	1	364	1	0	0	0	0	1	0	0	0	11620	1203	42	2	2040	2	PCDHB4	5	140503618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	504	140503618	40411642	4742	28244											
PCDHB5	26167	broad.mit.edu	37	chr5	140515416	140515416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgaccatgccccagagttcCcagagaaggaaatgctccta	13	7	9	12	0	0	3	0	1	0	2	2	5	2	4	5	1	2	2	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140515416C>T	ENST00000231134.5	+	1	617	c.400C>T	c.(400-402)Cca>Tca	p.P134S		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		134					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGTTCCCAGAGAAGGA	0.443													T	140515416	C	T	140515416	3	4	364	1	0	0	0	0	1	0	0	0	11621	623	22	2	402	2	PCDHB5	5	140515416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11798	140515416	40399844	4743	28245											
PCDHB5	26167	broad.mit.edu	37	chr5	140516912	140516912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggctgctgagcgagcgCgacgcggccaagcacaggct	8	3	16	14	5	0	1	0	1	0	0	0	3	0	1	2	3	4	4	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140516912C>T	ENST00000231134.5	+	1	2113	c.1896C>T	c.(1894-1896)cgC>cgT	p.R632R		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		632	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGAGCGAGCGCGACGCGGCCA	0.692													T	140516912	C	T	140516912	2	4	364	1	0	0	0	0	0	0	0	1	11621	755	27	1		1	PCDHB5	5	140516912	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1496	140516912	40398348	4744	28246											
PCDHB6	56130	broad.mit.edu	37	chr5	140531705	140531705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgcacaatggcgaggtgCgcaccgccaggctgctgagc	7	4	17	13	4	0	1	0	1	0	0	0	2	0	1	2	4	3	4	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140531705C>T	ENST00000231136.1	+	1	1867	c.1867C>T	c.(1867-1869)Cgc>Tgc	p.R623C	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487C	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGCGAGGTGCGCACCGCCAG	0.687													T	140531705	C	T	140531705	3	4	364	1	0	0	0	0	1	0	0	0	11622	768	27	1	1869	1	PCDHB6	5	140531705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14793	140531705	40383555	4745	28247											
PCDHB7	56129	broad.mit.edu	37	chr5	140552833	140552833	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctagacagagagatttcCttgaaaatattagaaagtac	16	13	7	5	0	1	5	0	1	1	4	2	6	2	5	1	0	1	1	1	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140552833C>A	ENST00000231137.3	+	1	591	c.417C>A	c.(415-417)tcC>tcA	p.S139S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		139	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGAGATTTCCTTGAAAATAT	0.428													A	140552833	C	A	140552833	2	1	364	1	0	0	0	0	0	0	0	1	11623	668	24	4		4	PCDHB7	5	140552833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21128	140552833	40362427	4746	28248											
PCDHB7	56129	broad.mit.edu	37	chr5	140553826	140553826	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacagccccgccctgcccatCggcagtgtcagcgccacaga	9	4	10	18	3	1	1	1	0	0	1	2	1	1	1	5	1	4	1	5	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140553826C>T	ENST00000231137.3	+	1	1584	c.1410C>T	c.(1408-1410)atC>atT	p.I470I		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		470	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGCCCATCGGCAGTGTCA	0.642													T	140553826	C	T	140553826	2	4	364	1	0	0	0	0	0	0	0	1	11623	874	31	1		1	PCDHB7	5	140553826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	993	140553826	40361434	4747	28249											
PCDHB7	56129	broad.mit.edu	37	chr5	140554240	140554240	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgtaccagctgctcaaGgccacggagcccgggctatt	7	8	12	14	3	1	0	1	0	0	0	2	1	1	1	3	3	4	4	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554240G>A	ENST00000231137.3	+	1	1998	c.1824G>A	c.(1822-1824)aaG>aaA	p.K608K		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		608	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGCTGCTCAAGGCCACGGAGC	0.711													A	140554240	G	A	140554240	2	1	364	1	0	0	0	0	0	0	0	1	11623	991	35	2		2	PCDHB7	5	140554240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	414	140554240	40361020	4748	28250											
PCDHB7	56129	broad.mit.edu	37	chr5	140554318	140554318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgctgagcgagcgcgaCgcagccaagcagaggctggt	9	4	17	11	4	0	2	0	1	0	1	0	4	0	2	1	3	5	5	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140554318C>T	ENST00000231137.3	+	1	2076	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		634	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GCGAGCGCGACGCAGCCAAGC	0.692													T	140554318	C	T	140554318	2	4	364	1	0	0	0	0	0	0	0	1	11623	535	19	1		1	PCDHB7	5	140554318	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	140554318	40360942	4749	28251											
PCDHB16	57717	broad.mit.edu	37	chr5	140562669	140562669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccaagctctcatttcCgggttctaatccatgaattc	9	13	6	13	1	3	1	2	1	2	0	7	1	5	1	3	1	2	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562669C>T	ENST00000361016.2	+	1	1690	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		179	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCTCATTTCCGGGTTCTAAT	0.448													T	140562669	C	T	140562669	3	4	364	1	0	0	0	0	1	0	0	0	11617	643	23	1	537	1	PCDHB16	5	140562669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8351	140562669	40352591	4750	28252											
PCDHB16	57717	broad.mit.edu	37	chr5	140562776	140562776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaagattaaccctgacagcGctggatggtggctctccacc	9	9	10	13	1	1	2	0	1	1	1	2	3	1	3	3	3	2	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140562776G>A	ENST00000361016.2	+	1	1797	c.642G>A	c.(640-642)gcG>gcA	p.A214A		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		214	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTGACAGCGCTGGATGGTG	0.502													A	140562776	G	A	140562776	2	1	364	1	0	0	0	0	0	0	0	1	11617	1074	38	1		1	PCDHB16	5	140562776	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107	140562776	40352484	4751	28253											
PCDHB16	57717	broad.mit.edu	37	chr5	140564037	140564037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgctgagcgagcgcgacGcagccaagcagaggctggtg	8	4	18	11	4	0	2	0	1	0	1	0	4	0	2	1	3	5	5	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140564037G>A	ENST00000361016.2	+	1	3058	c.1903G>A	c.(1903-1905)Gca>Aca	p.A635T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		635	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGCGCGACGCAGCCAAGCA	0.692													A	140564037	G	A	140564037	3	1	364	1	0	0	0	0	1	0	0	0	11617	1087	38	1	1905	1	PCDHB16	5	140564037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1261	140564037	40351223	4752	28254											
PCDHB10	56126	broad.mit.edu	37	chr5	140572975	140572975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctattcattttttgatGcctcagaaaatattcgaaca	13	16	4	8	1	2	2	2	1	0	1	4	3	3	2	2	0	2	0	2	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140572975G>A	ENST00000239446.4	+	1	1034	c.850G>A	c.(850-852)Gcc>Acc	p.A284T		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		284	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTTTTTGATGCCTCAGAAAA	0.378													A	140572975	G	A	140572975	3	1	364	1	0	0	0	0	1	0	0	0	11611	1319	46	2	852	2	PCDHB10	5	140572975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8938	140572975	40342285	4753	28255											
PCDHB10	56126	broad.mit.edu	37	chr5	140574228	140574228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgttggcctcggtgtcttcGctcttcctcctctcggtgct	0	15	11	15	4	3	0	0	0	3	0	8	0	5	0	3	3	1	3	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140574228G>A	ENST00000239446.4	+	1	2287	c.2103G>A	c.(2101-2103)tcG>tcA	p.S701S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		701					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGTGTCTTCGCTCTTCCTCC	0.706													A	140574228	G	A	140574228	2	1	364	1	0	0	0	0	0	0	0	1	11611	1074	38	1		1	PCDHB10	5	140574228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1253	140574228	40341032	4754	28256											
PCDHB12	56124	broad.mit.edu	37	chr5	140589847	140589847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttcacccaaacttcctaCgccctgttcgtccgcgagaa	8	9	7	17	4	1	1	1	0	0	1	4	2	3	1	5	0	2	1	5	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140589847C>T	ENST00000239450.2	+	1	1557	c.1368C>T	c.(1366-1368)taC>taT	p.Y456Y	PCDHB12_ENST00000541609.1_Silent_p.Y119Y	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		456	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAACTTCCTACGCCCTGTTCG	0.612													T	140589847	C	T	140589847	2	4	364	1	0	0	0	0	0	0	0	1	11613	547	19	1		1	PCDHB12	5	140589847	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15619	140589847	40325413	4755	28257											
PCDHB12	56124	broad.mit.edu	37	chr5	140590516	140590516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccggaggcggccccggcCcaggcccaggccgactcgct	4	3	14	20	5	0	0	0	0	0	0	2	2	1	1	6	6	0	1	6	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140590516C>T	ENST00000239450.2	+	1	2226	c.2037C>T	c.(2035-2037)gcC>gcT	p.A679A	PCDHB12_ENST00000541609.1_Silent_p.A342A	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		679					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCCCGGCCCAGGCCCAGG	0.701													T	140590516	C	T	140590516	2	4	364	1	0	0	0	0	0	0	0	1	11613	610	22	2		2	PCDHB12	5	140590516	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	669	140590516	40324744	4756	28258											
PCDHB13	56123	broad.mit.edu	37	chr5	140594043	140594044	+	Frame_Shift_Ins	INS	-	-	T																															tgctagagagtcccttcgagINSttttttcaagctgagctgca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140594043_140594044insT	ENST00000341948.4	+	1	535_536	c.348_349insT	c.(349-351)tttfs	p.F117fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		117	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCCTTCGAGTTTTTTCAAGC	0.46													T	140594044	-	T	140594043	7	5	364	1	0	1	1	0	0	0	0	0	11614	1020	36	0	350	0	PCDHB13	5	140594043	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3527	140594043	40321217	4757	28259											
PCDHB14	56122	broad.mit.edu	37	chr5	140603415	140603415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggttttggaaaaccCtttacagttttttcggtttg	7	18	10	6	1	1	0	1	0	0	0	2	1	1	1	1	4	2	3	1	4	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140603415C>A	ENST00000239449.4	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHB14_ENST00000515856.2_Intron	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		113	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTGGAAAACCCTTTACAGTTT	0.428													A	140603415	C	A	140603415	3	1	364	1	0	0	0	0	1	0	0	0	11615	681	24	4	340	4	PCDHB14	5	140603415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9372	140603415	40311845	4758	28260											
PCDHB14	56122	broad.mit.edu	37	chr5	140604400	140604400	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacaacataaccgtgctgctCtctgacgtcaatgacaacgc	12	9	7	13	3	2	2	1	2	1	0	3	2	2	2	1	0	6	2	1	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140604400C>T	ENST00000239449.4	+	1	1323	c.1323C>T	c.(1321-1323)ctC>ctT	p.L441L	PCDHB14_ENST00000515856.2_Silent_p.L288L	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		441	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCGTGCTGCTCTCTGACGTCA	0.582													T	140604400	C	T	140604400	2	4	364	1	0	0	0	0	0	0	0	1	11615	900	32	2		2	PCDHB14	5	140604400	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	985	140604400	40310860	4759	28261											
PCDHB14	56122	broad.mit.edu	37	chr5	140605187	140605187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgtcgctcttcctcttcTcggtgctcctgttcgtggcg	0	16	11	14	5	3	0	0	0	3	0	9	0	5	0	2	2	1	3	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140605187T>C	ENST00000239449.4	+	1	2110	c.2110T>C	c.(2110-2112)Tcg>Ccg	p.S704P	PCDHB14_ENST00000515856.2_Missense_Mutation_p.S551P	NM_018934.2	NP_061757.1	Q9Y5E9	PCDBE_HUMAN		704					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(21)|ovary(2)|prostate(3)|skin(6)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTTCCTCTTCTCGGTGCTCCT	0.706													C	140605187	T	C	140605187	3	2	364	1	0	0	0	0	1	0	0	0	11615	1551	54	3	2112	3	PCDHB14	5	140605187	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	787	140605187	40310073	4760	28262											
PCDHB15	56121	broad.mit.edu	37	chr5	140627342	140627342	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggtgcccgagggccccttTccagggcatctggtggacgt	4	9	15	13	3	1	0	0	0	1	0	3	2	2	1	4	5	1	1	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140627342T>C	ENST00000231173.3	+	1	2196	c.2196T>C	c.(2194-2196)ttT>ttC	p.F732F		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		732					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGGCCCCTTTCCAGGGCATC	0.622													C	140627342	T	C	140627342	2	2	364	1	0	0	0	0	0	0	0	1	11616	1780	62	3		3	PCDHB15	5	140627342	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22155	140627342	40287918	4761	28263											
SLC25A2	83884	broad.mit.edu	37	chr5	140682820	140682820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacagggcctagttcatCttttgatctccctgacgcaa	9	12	9	11	1	3	2	1	2	2	0	4	3	3	3	2	2	0	2	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140682820C>A	ENST00000239451.4	-	1	792	c.613G>T	c.(613-615)Gat>Tat	p.D205Y		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	205					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	CCTAGTTCATCTTTTGATCTC	0.438													A	140682820	C	A	140682820	3	1	364	1	0	0	0	0	1	0	0	0	14576	913	32	4	296	4	SLC25A2	5	140682820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55478	140682820	40232440	4762	28264											
SLC25A2	83884	broad.mit.edu	37	chr5	140683316	140683316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttgtacaggtcagggaaCgtctgcatcttcacttttat	8	14	8	11	1	4	0	2	0	2	0	4	1	4	1	1	2	3	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140683316C>T	ENST00000239451.4	-	1	296	c.117G>A	c.(115-117)acG>acA	p.T39T		NM_031947.2	NP_114153.1	Q9BXI2	ORNT2_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 2	39					mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			breast(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	19		all_lung(500;0.000249)|Lung NSC(810;0.0011)|Ovarian(839;0.00556)|Breast(839;0.0173)|all_hematologic(541;0.152)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.00204)	L-Ornithine(DB00129)	GGTCAGGGAACGTCTGCATCT	0.612													T	140683316	C	T	140683316	2	4	364	1	0	0	0	0	0	0	0	1	14576	523	19	1		1	SLC25A2	5	140683316	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	496	140683316	40231944	4763	28265											
PCDHGA1	56114	broad.mit.edu	37	chr5	140710700	140710700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaataacgactccaggtaCcagagtctcattgccttttg	11	12	8	10	1	1	2	1	1	1	1	3	3	2	2	3	1	3	1	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140710700C>T	ENST00000517417.1	+	1	449	c.449C>T	c.(448-450)aCc>aTc	p.T150I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T150I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTCCAGGTACCAGAGTCTCA	0.418													T	140710700	C	T	140710700	3	4	364	1	0	0	0	0	1	0	0	0	11626	507	18	2	451	2	PCDHGA1	5	140710700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27384	140710700	40204560	4764	28266											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711020	140711020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtccccgaaaacgtgccgCtgggtactcagctgctcatg	8	9	11	13	3	2	0	2	0	0	0	3	1	3	0	3	1	5	4	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711020C>A	ENST00000517417.1	+	1	769	c.769C>A	c.(769-771)Ctg>Atg	p.L257M	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.L257M	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACGTGCCGCTGGGTACTCA	0.493													A	140711020	C	A	140711020	3	1	364	1	0	0	0	0	1	0	0	0	11626	796	28	4	771	4	PCDHGA1	5	140711020	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	320	140711020	40204240	4765	28267											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711783	140711783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccatcaactccgacaCtggggtcctgtatgcgctgc	6	10	9	16	2	2	0	1	0	1	0	5	1	4	0	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140711783C>T	ENST00000517417.1	+	1	1532	c.1532C>T	c.(1531-1533)aCt>aTt	p.T511I	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.T511I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCGACACTGGGGTCCTG	0.557													T	140711783	C	T	140711783	3	4	364	1	0	0	0	0	1	0	0	0	11626	565	20	2	1534	2	PCDHGA1	5	140711783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	763	140711783	40203477	4766	28268											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712311	140712311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgccaaacccaacgattCggacctcactctgtacctgg	9	8	7	17	3	2	0	1	0	1	0	4	2	3	1	5	2	3	1	5	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140712311C>T	ENST00000517417.1	+	1	2060	c.2060C>T	c.(2059-2061)tCg>tTg	p.S687L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.S687L	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCAACGATTCGGACCTCACT	0.687													T	140712311	C	T	140712311	3	4	364	1	0	0	0	0	1	0	0	0	11626	893	31	1	2062	1	PCDHGA1	5	140712311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	528	140712311	40202949	4767	28269											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718798	140718798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcggcagcttggtcactgCgaacaggatagaccgggagg	11	5	16	9	3	1	1	1	0	0	1	1	4	1	3	1	5	4	2	1	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140718798C>T	ENST00000394576.2	+	1	260	c.260C>T	c.(259-261)gCg>gTg	p.A87V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGTCACTGCGAACAGGATA	0.547													T	140718798	C	T	140718798	3	4	364	1	0	0	0	0	1	0	0	0	11630	768	27	1	262	1	PCDHGA2	5	140718798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6487	140718798	40196462	4768	28270											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719530	140719530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgggccttctaaccagagCgaaggttatcgtcacggttc	8	10	11	12	4	2	1	1	0	1	1	5	2	3	1	3	3	2	2	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140719530C>T	ENST00000394576.2	+	1	992	c.992C>T	c.(991-993)gCg>gTg	p.A331V	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1												p.A331V(2)		breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTAACCAGAGCGAAGGTTATC	0.433													T	140719530	C	T	140719530	3	4	364	1	0	0	0	0	1	0	0	0	11630	768	27	1	994	1	PCDHGA2	5	140719530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	732	140719530	40195730	4769	28271											
PCDHGA2	56113	broad.mit.edu	37	chr5	140720329	140720329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcggtggacagagaCtcgggccagaacgcctggct	7	6	18	10	3	0	2	0	0	0	2	1	4	0	3	2	6	1	1	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140720329C>T	ENST00000394576.2	+	1	1791	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGACAGAGACTCGGGCCAGA	0.692													T	140720329	C	T	140720329	2	4	364	1	0	0	0	0	0	0	0	1	11630	564	20	2		2	PCDHGA2	5	140720329	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	799	140720329	40194931	4770	28272											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723715	140723715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctactcggtgtctgaggagCtagataaaggttccttcgtg	8	12	13	8	2	1	2	0	1	1	1	4	3	2	3	1	3	2	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140723715C>A	ENST00000253812.6	+	1	115	c.115C>A	c.(115-117)Cta>Ata	p.L39I	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTCTGAGGAGCTAGATAAAGG	0.622											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140723715	C	A	140723715	3	1	364	1	0	0	0	0	1	0	0	0	11631	796	28	4	117	4	PCDHGA3	5	140723715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3386	140723715	40191545	4771	28273											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725798	140725798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcgggaggcggcttggCgagtacgcccggctcgcact	4	7	17	13	6	0	0	0	0	0	0	2	2	0	1	1	6	1	5	1	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725798C>T	ENST00000253812.6	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGGCTTGGCGAGTACGCCC	0.672													T	140725798	C	T	140725798	3	4	364	1	0	0	0	0	1	0	0	0	11631	768	27	1	2200	1	PCDHGA3	5	140725798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2083	140725798	40189462	4772	28274											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725817	140725817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagtacgcccggctcgcaCtttgtgggcgcggacggggt	4	7	18	12	7	0	0	0	0	0	0	1	2	0	1	1	5	1	3	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140725817C>T	ENST00000253812.6	+	1	2217	c.2217C>T	c.(2215-2217)caC>caT	p.H739H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCTCGCACTTTGTGGGCG	0.667													T	140725817	C	T	140725817	2	4	364	1	0	0	0	0	0	0	0	1	11631	564	20	2		2	PCDHGA3	5	140725817	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	140725817	40189443	4773	28275											
PCDHGB2	56103	broad.mit.edu	37	chr5	140740498	140740498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtgcttcaagtgacaGccaccgaccgggatgaaggc	9	9	12	11	2	2	2	1	2	1	0	2	4	2	3	3	2	2	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140740498G>A	ENST00000522605.1	+	1	796	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAAGTGACAGCCACCGACCG	0.507													A	140740498	G	A	140740498	3	1	364	1	0	0	0	0	1	0	0	0	11639	971	34	2	798	2	PCDHGB2	5	140740498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14681	140740498	40174762	4774	28276											
PCDHGB2	56103	broad.mit.edu	37	chr5	140741305	140741305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagctcacactgcaggccCgcgaccagggctcgcccgcg	6	4	13	18	6	1	0	1	0	0	0	3	2	1	0	3	2	2	3	3	2	0	0	rs1860251		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140741305C>T	ENST00000522605.1	+	1	1603	c.1603C>T	c.(1603-1605)Cgc>Tgc	p.R535C	PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018923.2|NM_032096.1	NP_061746.1|NP_115267.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTGCAGGCCCGCGACCAGGG	0.677													T	140741305	C	T	140741305	3	4	364	1	0	0	0	0	1	0	0	0	11639	652	23	1	1605	1	PCDHGB2	5	140741305	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	807	140741305	40173955	4775	28277											
PCDHGA5	56110	broad.mit.edu	37	chr5	140745793	140745793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgcacagcgcgagccctGctggacagagacgcgctcaa	9	4	14	14	5	1	1	1	0	0	1	1	4	1	2	1	1	4	3	1	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140745793G>A	ENST00000518069.1	+	1	1896	c.1896G>A	c.(1894-1896)ctG>ctA	p.L632L	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGAGCCCTGCTGGACAGAG	0.677													A	140745793	G	A	140745793	2	1	364	1	0	0	0	0	0	0	0	1	11633	1306	46	2		2	PCDHGA5	5	140745793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4488	140745793	40169467	4776	28278											
PCDHGA6	56109	broad.mit.edu	37	chr5	140753844	140753844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcggagcacggagtccGcatcgtctccagaggtagga	8	7	16	10	4	1	1	0	0	1	1	4	4	2	4	2	5	1	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140753844G>A	ENST00000517434.1	+	1	194	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGGAGTCCGCATCGTCTCC	0.592													A	140753844	G	A	140753844	3	1	364	1	0	0	0	0	1	0	0	0	11634	1087	38	1	196	1	PCDHGA6	5	140753844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8051	140753844	40161416	4777	28279											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754977	140754977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caatcatctctctaaatgtgGcagacaccaacgacaacccg	14	7	6	14	2	3	1	1	0	2	1	4	2	3	1	2	1	2	1	2	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140754977G>A	ENST00000517434.1	+	1	1327	c.1327G>A	c.(1327-1329)Gca>Aca	p.A443T	PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTAAATGTGGCAGACACCAA	0.498													A	140754977	G	A	140754977	3	1	364	1	0	0	0	0	1	0	0	0	11634	1203	42	2	1329	2	PCDHGA6	5	140754977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1133	140754977	40160283	4778	28280											
PCDHGA7	56108	broad.mit.edu	37	chr5	140764376	140764376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccctgctggacagagatgCcctcaagcagagcctcgtgg	8	6	14	13	1	1	2	1	0	0	2	2	4	1	3	3	3	4	2	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140764376C>T	ENST00000518325.1	+	1	1910	c.1910C>T	c.(1909-1911)gCc>gTc	p.A637V	PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACAGAGATGCCCTCAAGCAG	0.647													T	140764376	C	T	140764376	3	4	364	1	0	0	0	0	1	0	0	0	11635	739	26	2	1912	2	PCDHGA7	5	140764376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9399	140764376	40150884	4779	28281											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769033	140769033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagctgcgcgccttcgaaCtcacactgcaggcccgcgac	8	5	11	17	5	1	0	1	0	0	0	2	2	1	0	2	1	5	3	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140769033C>A	ENST00000519479.1	+	1	1582	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCTTCGAACTCACACTGCA	0.677													A	140769033	C	A	140769033	3	1	364	1	0	0	0	0	1	0	0	0	11641	565	20	4	1584	4	PCDHGB4	5	140769033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4657	140769033	40146227	4780	28282											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773751	140773751	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttccctcatgcctcctaCtcagcgtatatcctagagaa	10	12	5	14	1	2	1	2	0	0	1	5	2	5	1	4	0	3	1	4	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773751C>A	ENST00000398604.2	+	1	1371	c.1371C>A	c.(1369-1371)taC>taA	p.Y457*	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCCTCCTACTCAGCGTATA	0.522													A	140773751	C	A	140773751	4	1	364	1	0	0	0	0	0	1	0	0	11636	576	20	4	1373	4	PCDHGA8	5	140773751	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4718	140773751	40141509	4781	28283											
PCDHGA8	9708	broad.mit.edu	37	chr5	140773877	140773877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacacgctgcagggggcGcccctgtcctcgtatatctc	6	8	13	14	3	1	0	0	0	1	0	4	2	2	1	3	3	1	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140773877G>A	ENST00000398604.2	+	1	1497	c.1497G>A	c.(1495-1497)gcG>gcA	p.A499A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCAGGGGGCGCCCCTGTCCT	0.562													A	140773877	G	A	140773877	2	1	364	1	0	0	0	0	0	0	0	1	11636	1074	38	1		1	PCDHGA8	5	140773877	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126	140773877	40141383	4782	28284											
PCDHGA8	9708	broad.mit.edu	37	chr5	140774315	140774315	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagcctcgtggtggcCgtccaggaccatggccagcc	8	5	14	14	2	0	1	0	0	0	1	2	2	1	2	6	4	3	1	6	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140774315C>A	ENST00000398604.2	+	1	1935	c.1935C>A	c.(1933-1935)gcC>gcA	p.A645A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_032088.1	NP_114477.1														endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGTGGTGGCCGTCCAGGACC	0.677													A	140774315	C	A	140774315	2	1	364	1	0	0	0	0	0	0	0	1	11636	639	23	4		4	PCDHGA8	5	140774315	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	438	140774315	40140945	4783	28285											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783914	140783914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctacctcccggaaaacaaCgccagaggtacttccatctt	11	9	7	14	2	2	1	0	0	2	1	4	2	4	2	4	2	4	1	4	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140783914C>T	ENST00000573521.1	+	1	1395	c.1395C>T	c.(1393-1395)aaC>aaT	p.N465N	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGAAAACAACGCCAGAGGTA	0.463													T	140783914	C	T	140783914	2	4	364	1	0	0	0	0	0	0	0	1	11637	535	19	1		1	PCDHGA9	5	140783914	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9599	140783914	40131346	4784	28286											
PCDHGA9	56107	broad.mit.edu	37	chr5	140784723	140784723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgatgggttggctggtgTgcccacctcacactttgtgg	5	12	14	10	0	1	1	1	1	0	0	1	1	1	1	2	4	1	2	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140784723T>C	ENST00000573521.1	+	1	2204	c.2204T>C	c.(2203-2205)gTg>gCg	p.V735A	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGGCTGGTGTGCCCACCTCA	0.572													C	140784723	T	C	140784723	3	2	364	1	0	0	0	0	1	0	0	0	11637	1696	59	3	2206	3	PCDHGA9	5	140784723	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	809	140784723	40130537	4785	28287											
PCDHGB6	56100	broad.mit.edu	37	chr5	140787945	140787945	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatctagggctcagtgtccTggatgtgtcggctcgcaagc	6	10	15	10	2	2	0	1	0	1	0	5	2	3	2	1	4	1	3	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140787945T>G	ENST00000520790.1	+	1	176	c.176T>G	c.(175-177)cTg>cGg	p.L59R	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCAGTGTCCTGGATGTGTCG	0.607													G	140787945	T	G	140787945	3	3	364	1	0	0	0	0	1	0	0	0	11643	1580	55	5	178	5	PCDHGB6	5	140787945	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3222	140787945	40127315	4786	28288											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788094	140788094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagttgcaattggaagctGtggtggaaaatcctttaaat	12	13	12	4	0	0	1	0	1	0	0	1	3	1	3	1	3	2	3	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788094G>A	ENST00000520790.1	+	1	325	c.325G>A	c.(325-327)Gtg>Atg	p.V109M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTGGAAGCTGTGGTGGAAAA	0.403													A	140788094	G	A	140788094	3	1	364	1	0	0	0	0	1	0	0	0	11643	1377	48	2	327	2	PCDHGB6	5	140788094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149	140788094	40127166	4787	28289											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788107	140788107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgtggtggaaaatcCtttaaatatttttcatgtca	12	15	9	5	0	2	0	2	0	0	0	3	2	3	2	1	3	1	1	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788107C>A	ENST00000520790.1	+	1	338	c.338C>A	c.(337-339)cCt>cAt	p.P113H	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGGAAAATCCTTTAAATATT	0.383													A	140788107	C	A	140788107	3	1	364	1	0	0	0	0	1	0	0	0	11643	681	24	4	340	4	PCDHGB6	5	140788107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	140788107	40127153	4788	28290											
PCDHGB6	56100	broad.mit.edu	37	chr5	140788768	140788768	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctctacccagtgtaaagtAatcatagaaatccttgatga	14	12	6	9	0	2	3	1	2	1	1	4	3	3	3	2	0	1	2	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140788768A>G	ENST00000520790.1	+	1	999	c.999A>G	c.(997-999)gtA>gtG	p.V333V	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018926.2|NM_032100.1	NP_061749.1|NP_115271.1														breast(2)|central_nervous_system(2)|endometrium(9)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)	48			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGTAAAGTAATCATAGAAA	0.403													G	140788768	A	G	140788768	2	3	364	1	0	0	0	0	0	0	0	1	11643	349	13	3		3	PCDHGB6	5	140788768	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	661	140788768	40126492	4789	28291											
PCDHGA10	56106	broad.mit.edu	37	chr5	140793483	140793483	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaacgcgccggtcttcacCttgccagaataccgagtgag	10	7	11	13	4	2	2	1	1	1	1	2	4	2	2	4	1	3	0	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140793483C>A	ENST00000398610.2	+	1	741	c.741C>A	c.(739-741)acC>acA	p.T247T	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGTCTTCACCTTGCCAGAAT	0.577													A	140793483	C	A	140793483	2	1	364	1	0	0	0	0	0	0	0	1	11627	668	24	4		4	PCDHGA10	5	140793483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4715	140793483	40121777	4790	28292											
PCDHGA10	56106	broad.mit.edu	37	chr5	140794055	140794055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagtcctcctctatcaaCggaagctcactttatgctac	10	11	8	12	1	3	0	2	0	1	0	5	2	5	2	2	2	4	2	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140794055C>T	ENST00000398610.2	+	1	1313	c.1313C>T	c.(1312-1314)aCg>aTg	p.T438M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018913.2|NM_032090.1	NP_061736.1|NP_114479.1														breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCTATCAACGGAAGCTCAC	0.463													T	140794055	C	T	140794055	3	4	364	1	0	0	0	0	1	0	0	0	11627	536	19	1	1315	1	PCDHGA10	5	140794055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	572	140794055	40121205	4791	28293											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797471	140797471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccgggccggcccgcggcaGgtactatttcctttgctgct	3	10	13	15	5	0	0	0	0	0	0	1	0	1	0	4	4	3	4	4	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140797471G>T	ENST00000398594.2	+	1	45	c.45G>T	c.(43-45)caG>caT	p.Q15H	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			gcccgcggcAGGTACTATTTC	0.642											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	140797471	G	T	140797471	3	4	364	1	0	0	0	0	1	0	0	0	11644	991	35	4	47	4	PCDHGB7	5	140797471	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3416	140797471	40117789	4792	28294											
PCDHGB7	56099	broad.mit.edu	37	chr5	140798177	140798177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgtgtacagggttagcCttcgggaagacgtgcctcca	9	8	14	10	3	0	1	0	0	0	1	2	3	1	3	3	3	3	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140798177C>A	ENST00000398594.2	+	1	751	c.751C>A	c.(751-753)Ctt>Att	p.L251I	PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTTAGCCTTCGGGAAGA	0.547													A	140798177	C	A	140798177	3	1	364	1	0	0	0	0	1	0	0	0	11644	681	24	4	753	4	PCDHGB7	5	140798177	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706	140798177	40117083	4793	28295											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811102	140811102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaatctggccttgggcaCgcagctgcttgtagtcaacg	8	9	14	10	2	2	1	1	0	1	1	2	2	2	1	1	3	3	5	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811102C>T	ENST00000252085.3	+	1	918	c.776C>T	c.(775-777)aCg>aTg	p.T259M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGGCACGCAGCTGCTT	0.597													T	140811102	C	T	140811102	3	4	364	1	0	0	0	0	1	0	0	0	11629	536	19	1	778	1	PCDHGA12	5	140811102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12925	140811102	40104158	4794	28296											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811664	140811664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaacgtggcagacaccaaCgacaacccgccggtcttccc	10	5	9	17	4	1	2	0	1	1	1	2	3	2	2	4	2	3	1	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811664C>T	ENST00000252085.3	+	1	1480	c.1338C>T	c.(1336-1338)aaC>aaT	p.N446N	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGACACCAACGACAACCCGC	0.582													T	140811664	C	T	140811664	2	4	364	1	0	0	0	0	0	0	0	1	11629	535	19	1		1	PCDHGA12	5	140811664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	562	140811664	40103596	4795	28297											
PCDHGA12	26025	broad.mit.edu	37	chr5	140811962	140811962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcccctcagcagcaacGtgtcgttgagcctgttcgtg	6	9	11	15	4	1	1	1	1	0	0	3	1	1	1	4	0	4	4	4	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140811962G>A	ENST00000252085.3	+	1	1778	c.1636G>A	c.(1636-1638)Gtg>Atg	p.V546M	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGCAACGTGTCGTTGAG	0.627													A	140811962	G	A	140811962	3	1	364	1	0	0	0	0	1	0	0	0	11629	1145	40	1	1638	1	PCDHGA12	5	140811962	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	298	140811962	40103298	4796	28298											
PCDHGC3	5098	broad.mit.edu	37	chr5	140856640	140856640	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacaccaaactccatgaGatttacatccaggccaaaga	16	6	8	11	0	0	2	0	1	0	2	2	5	2	3	4	2	2	0	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140856640G>T	ENST00000308177.3	+	1	1061	c.957G>T	c.(955-957)gaG>gaT	p.E319D	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTCCATGAGATTTACATCC	0.547													T	140856640	G	T	140856640	3	4	364	1	0	0	0	0	1	0	0	0	11645	933	33	4	959	4	PCDHGC3	5	140856640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44678	140856640	40058620	4797	28299											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857116	140857116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccggggctccaatactaaAcctaagtgtctgggaccccg	9	7	10	15	2	1	0	0	0	1	0	2	1	2	1	6	3	2	1	6	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140857116A>G	ENST00000308177.3	+	1	1537	c.1433A>G	c.(1432-1434)aAc>aGc	p.N478S	PCDHGB3_ENST00000576222.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAATACTAAACCTAAGTGTC	0.502													G	140857116	A	G	140857116	3	3	364	1	0	0	0	0	1	0	0	0	11645	43	2	3	1435	3	PCDHGC3	5	140857116	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	476	140857116	40058144	4798	28300											
PCDHGC4	56098	broad.mit.edu	37	chr5	140864800	140864800	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggctacccttttgttcctCttttaccacctgggttacgt	4	17	8	12	1	1	0	0	0	1	0	2	0	2	0	4	2	3	3	4	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140864800C>T	ENST00000306593.1	+	1	60	c.60C>T	c.(58-60)ctC>ctT	p.L20L	PCDHGB3_ENST00000576222.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTGTTCCTCTTTTACCACC	0.552													T	140864800	C	T	140864800	2	4	364	1	0	0	0	0	0	0	0	1	11646	900	32	2		2	PCDHGC4	5	140864800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7684	140864800	40050460	4799	28301											
DIAPH1	1729	broad.mit.edu	37	chr5	140905645	140905645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctctcttctgctgcttCtctagccgctccttctctgc	1	17	6	17	1	5	0	0	0	5	0	9	0	6	0	2	0	5	4	2	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140905645C>A	ENST00000253811.6	-	26	3677	c.3537G>T	c.(3535-3537)gaG>gaT	p.E1179D	DIAPH1_ENST00000389057.5_Missense_Mutation_p.E1169D|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E1121D|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E1178D|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E1175D|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E1154D|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E1166D|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E1170D			O60610	DIAP1_HUMAN	diaphanous-related formin 1	1178					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCTGCTGCTTCTCTAGCCGCT	0.522													A	140905645	C	A	140905645	3	1	364	1	0	0	0	0	1	0	0	0	4557	912	32	4	296	4	DIAPH1	5	140905645	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40845	140905645	40009615	4800	28302											
DIAPH1	1729	broad.mit.edu	37	chr5	140957091	140957091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagtgctgcaggatggaaaGgaagtgtggctctgcctttg	9	11	15	6	0	1	0	0	0	1	0	1	3	1	3	1	4	3	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140957091G>T	ENST00000253811.6	-	12	1371	c.1231C>A	c.(1231-1233)Ctt>Att	p.L411I	DIAPH1_ENST00000389057.5_Missense_Mutation_p.L402I|DIAPH1_ENST00000520569.1_Missense_Mutation_p.L357I|DIAPH1_ENST00000398557.4_Missense_Mutation_p.L411I|DIAPH1_ENST00000389054.3_Missense_Mutation_p.L411I|DIAPH1_ENST00000398562.2_Missense_Mutation_p.L402I|DIAPH1_ENST00000518047.1_Missense_Mutation_p.L402I|DIAPH1_ENST00000398566.3_Missense_Mutation_p.L402I			O60610	DIAP1_HUMAN	diaphanous-related formin 1	411	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATGGAAAGGAAGTGTGGC	0.418													T	140957091	G	T	140957091	3	4	364	1	0	0	0	0	1	0	0	0	4557	1000	35	4	2655	4	DIAPH1	5	140957091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51446	140957091	39958169	4801	28303											
DIAPH1	1729	broad.mit.edu	37	chr5	140967806	140967806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttacctcatctgccatgagCcgcttcagagtctaggaaac	10	10	8	13	1	4	2	2	1	2	1	4	3	4	3	3	1	4	1	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:140967806C>T	ENST00000253811.6	-	2	269	c.129G>A	c.(127-129)cgG>cgA	p.R43R	DIAPH1_ENST00000389057.5_Intron|DIAPH1_ENST00000398557.4_Silent_p.R43R|DIAPH1_ENST00000389054.3_Silent_p.R43R|DIAPH1_ENST00000398562.2_Intron|DIAPH1_ENST00000518047.1_Intron|DIAPH1_ENST00000398566.3_Intron			O60610	DIAP1_HUMAN	diaphanous-related formin 1	43					regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCCATGAGCCGCTTCAGAG	0.418													T	140967806	C	T	140967806	2	4	364	1	0	0	0	0	0	0	0	1	4557	726	26	2		2	DIAPH1	5	140967806	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10715	140967806	39947454	4802	28304											
HDAC3	8841	broad.mit.edu	37	chr5	141007475	141007475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacccatgccctcggatgCtgaggttaaagcagcccaat	10	8	9	14	1	1	1	1	1	0	0	2	2	1	2	3	2	4	3	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141007475C>A	ENST00000305264.3	-	10	894	c.815G>T	c.(814-816)aGc>aTc	p.S272I		NM_003883.3	NP_003874.2	O15379	HDAC3_HUMAN	histone deacetylase 3	272	Histone deacetylase.				anti-apoptosis|cellular lipid metabolic process|negative regulation of cell cycle|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|spindle assembly|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|spindle microtubule|transcriptional repressor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription corepressor activity|transcription factor binding			endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Vorinostat(DB02546)	CCCTCGGATGCTGAGGTTAAA	0.527													A	141007475	C	A	141007475	3	1	364	1	0	0	0	0	1	0	0	0	7063	797	28	4	495	4	HDAC3	5	141007475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39669	141007475	39907785	4803	28305											
ARAP3	64411	broad.mit.edu	37	chr5	141039454	141039454	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcaaacagcagagccaagttCcgcgtgcacatctggtttag	11	8	11	11	2	1	1	0	0	1	1	2	1	2	1	2	1	4	5	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141039454C>T	ENST00000239440.4	-	22	3224	c.3159G>A	c.(3157-3159)cgG>cgA	p.R1053R	ARAP3_ENST00000513878.1_Silent_p.R715R|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Silent_p.R884R	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1053	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding	p.R1053R(1)		NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GAGCCAAGTTCCGCGTGCACA	0.557													T	141039454	C	T	141039454	2	4	364	1	0	0	0	0	0	0	0	1	843	842	30	2		2	ARAP3	5	141039454	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31979	141039454	39875806	4804	28306											
ARAP3	64411	broad.mit.edu	37	chr5	141041299	141041299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcggcggttgacccgcGgcaggcagccaatcacatct	7	7	14	13	4	2	1	1	1	1	0	2	1	2	1	2	4	2	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141041299G>A	ENST00000239440.4	-	21	3136	c.3071C>T	c.(3070-3072)cCg>cTg	p.P1024L	ARAP3_ENST00000513878.1_Missense_Mutation_p.P686L|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.P855L	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1024	Rho-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GTTGACCCGCGGCAGGCAGCC	0.572													A	141041299	G	A	141041299	3	1	364	1	0	0	0	0	1	0	0	0	843	1116	39	1	1615	1	ARAP3	5	141041299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1845	141041299	39873961	4805	28307											
ARAP3	64411	broad.mit.edu	37	chr5	141050955	141050955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggttgggtcttgccacagCtgcacacagtgcctgcaggg	7	8	14	12	0	1	0	0	0	1	0	1	0	1	0	2	3	5	4	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141050955C>T	ENST00000239440.4	-	13	1932	c.1867G>A	c.(1867-1869)Gct>Act	p.A623T	ARAP3_ENST00000513878.1_Missense_Mutation_p.A285T|ARAP3_ENST00000508305.1_Missense_Mutation_p.A545T	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	623					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CTTGCCACAGCTGCACACAGT	0.587													T	141050955	C	T	141050955	3	4	364	1	0	0	0	0	1	0	0	0	843	797	28	2	2851	2	ARAP3	5	141050955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9656	141050955	39864305	4806	28308											
ARAP3	64411	broad.mit.edu	37	chr5	141051471	141051471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgctcacctgtactatCtcattactccagacactcgt	8	11	5	17	3	2	1	2	0	1	1	5	1	3	1	3	0	2	2	3	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141051471C>A	ENST00000239440.4	-	11	1727	c.1662G>T	c.(1660-1662)gaG>gaT	p.E554D	ARAP3_ENST00000513878.1_Missense_Mutation_p.E216D|ARAP3_ENST00000508305.1_Missense_Mutation_p.E476D	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	554	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCTGTACTATCTCATTACTCC	0.602													A	141051471	C	A	141051471	3	1	364	1	0	0	0	0	1	0	0	0	843	912	32	4	3064	4	ARAP3	5	141051471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	516	141051471	39863789	4807	28309											
PCDH1	5097	broad.mit.edu	37	chr5	141244899	141244899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gataagtccagtgttcctgtCcagtcgaagaagacgcctca	11	9	10	11	2	1	2	1	0	0	2	5	4	4	2	4	0	0	1	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141244899C>T	ENST00000287008.3	-	3	1144	c.997G>A	c.(997-999)Gac>Aac	p.D333N	PCDH1_ENST00000503492.1_Intron|PCDH1_ENST00000394536.3_Missense_Mutation_p.D333N|PCDH1_ENST00000511044.1_5'UTR|PCDH1_ENST00000456271.1_Missense_Mutation_p.D321N|PCDH1_ENST00000536585.1_Missense_Mutation_p.D311N	NM_032420.2	NP_115796.2	Q08174	PCDH1_HUMAN	protocadherin 1	333	Cadherin 3.				cell-cell signaling|homophilic cell adhesion|nervous system development	cell-cell junction|integral to plasma membrane	calcium ion binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(20)|ovary(5)|skin(3)|upper_aerodigestive_tract(1)	51		Lung NSC(810;0.027)|all_lung(500;0.0321)|all_hematologic(541;0.0433)|Prostate(461;0.0453)|Breast(839;0.128)|Lung SC(612;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;1.06e-05)		GTGTTCCTGTCCAGTCGAAGA	0.557													T	141244899	C	T	141244899	3	4	364	1	0	0	0	0	1	0	0	0	11582	855	30	2	2812	2	PCDH1	5	141244899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193428	141244899	39670361	4808	28310											
PCDH12	51294	broad.mit.edu	37	chr5	141336296	141336296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcatctgccatgacaagaGcaataaaactgtccttggga	14	9	9	9	0	2	2	1	1	1	1	3	3	3	3	2	1	3	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141336296G>T	ENST00000231484.3	-	1	2331	c.1121C>A	c.(1120-1122)gCt>gAt	p.A374D		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	374	Cadherin 4.				neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATGACAAGAGCAATAAAACT	0.507													T	141336296	G	T	141336296	3	4	364	1	0	0	0	0	1	0	0	0	11586	971	34	4	2449	4	PCDH12	5	141336296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91397	141336296	39578964	4809	28311											
RNF14	9604	broad.mit.edu	37	chr5	141357958	141357958	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcaatttcttaaggaaGagaccctagcatacttgaat	14	11	9	7	0	1	2	0	1	1	1	1	5	1	4	1	2	3	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141357958G>T	ENST00000394520.2	+	5	706	c.397G>T	c.(397-399)Gag>Tag	p.E133*	RNF14_ENST00000394519.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000356143.1_Nonsense_Mutation_p.E133*|RNF14_ENST00000347642.3_Nonsense_Mutation_p.E133*|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000540015.1_Intron|AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000394514.2_Nonsense_Mutation_p.E7*|RNF14_ENST00000394515.3_Intron	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	133	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TCTTAAGGAAGAGACCCTAGC	0.453													T	141357958	G	T	141357958	4	4	364	1	0	0	0	0	0	1	0	0	13534	943	33	4	407	4	RNF14	5	141357958	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21662	141357958	39557302	4810	28312											
GNPDA1	10007	broad.mit.edu	37	chr5	141382753	141382753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggcagacacggtccaCatgtggttcactccctcctc	8	9	10	14	1	1	1	1	0	0	1	5	2	4	2	3	4	0	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141382753C>T	ENST00000508177.1	-	5	1427	c.669G>A	c.(667-669)atG>atA	p.M223I	GNPDA1_ENST00000513454.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000503794.1_Missense_Mutation_p.M223I|GNPDA1_ENST00000542860.1_Missense_Mutation_p.M146I|GNPDA1_ENST00000458112.2_Missense_Mutation_p.M189I|GNPDA1_ENST00000311337.6_Missense_Mutation_p.M223I|GNPDA1_ENST00000500692.2_Missense_Mutation_p.M223I			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	223					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACACGGTCCACATGTGGTTCA	0.512													T	141382753	C	T	141382753	3	4	364	1	0	0	0	0	1	0	0	0	6598	478	17	2	208	2	GNPDA1	5	141382753	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24795	141382753	39532507	4811	28313											
SPRY4	81848	broad.mit.edu	37	chr5	141694443	141694443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtcacagcgggcgggCgtcggggccagctctggggc	3	6	19	13	4	2	0	1	0	1	0	4	0	3	0	2	7	2	1	2	7	0	0	rs143709567	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694443C>T	ENST00000344120.4	-	3	486	c.300G>A	c.(298-300)acG>acA	p.T100T	SPRY4_ENST00000434127.2_Silent_p.T77T	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	77	Poly-Ser.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCGGGCGGGCGTCGGGGCCA	0.662									Testicular Cancer, Familial Clustering of				T	141694443	C	T	141694443	2	4	364	1	0	0	0	0	0	0	0	1	15204	755	27	1		1	SPRY4	5	141694443	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	311690	141694443	39220817	4812	28314											
SPRY4	81848	broad.mit.edu	37	chr5	141694663	141694663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggcgctctgtgggatcGggggctccatggggctggag	4	7	22	8	2	1	0	0	0	1	0	3	2	2	2	1	8	0	3	1	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:141694663G>A	ENST00000344120.4	-	3	266	c.80C>T	c.(79-81)cCg>cTg	p.P27L	SPRY4_ENST00000434127.2_Missense_Mutation_p.P4L	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	4					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGATCGGGGGCTCCAT	0.627									Testicular Cancer, Familial Clustering of				A	141694663	G	A	141694663	3	1	364	1	0	0	0	0	1	0	0	0	15204	1116	39	1	892	1	SPRY4	5	141694663	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220	141694663	39220597	4813	28315											
ARHGAP26	23092	broad.mit.edu	37	chr5	142281518	142281518	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctggccttcctgcaaGgactcttcactttctatcac	7	13	7	14	0	4	0	2	0	2	0	5	1	5	1	2	2	3	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142281518G>T	ENST00000378004.3	+	7	971	c.616G>T	c.(616-618)Gga>Tga	p.G206*	ARHGAP26_ENST00000274498.4_Nonsense_Mutation_p.G206*	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	206					actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTCCTGCAAGGACTCTTCAC	0.458													T	142281518	G	T	142281518	4	4	364	1	0	0	0	0	0	1	0	0	878	1001	35	4	642	4	ARHGAP26	5	142281518	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	586855	142281518	38633742	4814	28316											
ARHGAP26	23092	broad.mit.edu	37	chr5	142500708	142500708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctaatagaaaaccacgAaaaggtaatatgtaattgat	19	10	7	5	1	0	2	0	1	0	1	1	4	1	2	2	1	1	2	2	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142500708A>G	ENST00000378004.3	+	18	2049	c.1694A>G	c.(1693-1695)gAa>gGa	p.E565G	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.E565G	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	565	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAAAACCACGAAAAGGTAATA	0.423													G	142500708	A	G	142500708	3	3	364	1	0	0	0	0	1	0	0	0	878	246	9	3	1764	3	ARHGAP26	5	142500708	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	219190	142500708	38414552	4815	28317											
NR3C1	2908	broad.mit.edu	37	chr5	142662143	142662143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacttacttcatgcataGaatccaagagttttgtcagt	12	14	7	8	0	2	3	2	1	0	2	3	3	3	3	1	0	2	2	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142662143G>T	ENST00000343796.2	-	8	3164	c.2171C>A	c.(2170-2172)tCt>tAt	p.S724Y	NR3C1_ENST00000503201.1_Missense_Mutation_p.S724Y|NR3C1_ENST00000415690.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000504572.1_Missense_Mutation_p.S725Y|NR3C1_ENST00000416954.2_Missense_Mutation_p.S327Y|NR3C1_ENST00000424646.2_Missense_Mutation_p.S698Y|NR3C1_ENST00000394464.2_Missense_Mutation_p.S724Y|NR3C1_ENST00000394466.2_Missense_Mutation_p.S725Y|NR3C1_ENST00000231509.3_Missense_Mutation_p.S725Y	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	724	Steroid-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	TTCATGCATAGAATCCAAGAG	0.393													T	142662143	G	T	142662143	3	4	364	1	0	0	0	0	1	0	0	0	10706	942	33	4	222	4	NR3C1	5	142662143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161435	142662143	38253117	4816	28318											
NR3C1	2908	broad.mit.edu	37	chr5	142780045	142780045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatgctttcttccaaaagCtttaagtctgtttcccccga	9	14	6	12	1	2	0	0	0	2	0	4	1	4	0	3	0	2	4	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:142780045C>T	ENST00000343796.2	-	2	1353	c.360G>A	c.(358-360)aaG>aaA	p.K120K	NR3C1_ENST00000503201.1_Silent_p.K120K|NR3C1_ENST00000415690.2_Silent_p.K120K|NR3C1_ENST00000504572.1_Silent_p.K120K|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000424646.2_Silent_p.K120K|NR3C1_ENST00000394464.2_Silent_p.K120K|NR3C1_ENST00000394466.2_Silent_p.K120K|NR3C1_ENST00000231509.3_Silent_p.K120K	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	120	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	CTTCCAAAAGCTTTAAGTCTG	0.498													T	142780045	C	T	142780045	2	4	364	1	0	0	0	0	0	0	0	1	10706	796	28	2		2	NR3C1	5	142780045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117902	142780045	38135215	4817	28319											
KCTD16	57528	broad.mit.edu	37	chr5	143853619	143853619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaatcaaaattccagatcGgtttcctgagagaaaacatc	18	9	6	8	1	1	3	1	1	0	2	5	4	3	3	2	1	1	1	2	1	6	2	rs147890155		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:143853619G>A	ENST00000507359.3	+	3	2320	c.1229G>A	c.(1228-1230)cGg>cAg	p.R410Q	KCTD16_ENST00000512467.1_Missense_Mutation_p.R410Q	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			ATTCCAGATCGGTTTCCTGAG	0.383													A	143853619	G	A	143853619	3	1	364	1	0	0	0	0	1	0	0	0	8161	1116	39	1	1235	1	KCTD16	5	143853619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1073574	143853619	37061641	4818	28320											
PRELID2	153768	broad.mit.edu	37	chr5	145176105	145176105	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcctctttgaatgaacTctgtcctgcaaaaaaaacaa	14	11	5	11	0	2	2	0	2	2	0	4	2	4	2	3	0	4	1	3	0	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145176105T>A	ENST00000334744.4	-	6	462	c.410A>T	c.(409-411)gAg>gTg	p.E137V	PRELID2_ENST00000511435.1_Missense_Mutation_p.E125V|PRELID2_ENST00000394450.2_Missense_Mutation_p.E96V|PRELID2_ENST00000358004.2_Missense_Mutation_p.E125V|PRELID2_ENST00000505416.1_Missense_Mutation_p.E125V	NM_182960.2	NP_892005.1	Q8N945	PRLD2_HUMAN	PRELI domain containing 2	137	PRELI/MSF1.									endometrium(2)|large_intestine(1)|lung(2)|prostate(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTGAATGAACTCTGTCCTGCA	0.383													A	145176105	T	A	145176105	3	1	364	1	0	0	0	0	1	0	0	0	12558	1551	54	5	167	5	PRELID2	5	145176105	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1322486	145176105	35739155	4819	28321											
SH3RF2	153769	broad.mit.edu	37	chr5	145317698	145317698	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgccggccaacctgctgctCgtgcgccttctggatggagt	4	10	13	14	3	1	0	0	0	1	0	2	2	1	2	4	3	5	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145317698C>T	ENST00000511217.1	+	1	259	c.207C>T	c.(205-207)ctC>ctT	p.L69L	SH3RF2_ENST00000359120.4_Silent_p.L69L			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	69							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACCTGCTGCTCGTGCGCCTTC	0.622													T	145317698	C	T	145317698	2	4	364	1	0	0	0	0	0	0	0	1	14353	871	31	1		1	SH3RF2	5	145317698	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141593	145317698	35597562	4820	28322											
SH3RF2	153769	broad.mit.edu	37	chr5	145439660	145439660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcctggatccactccgCggccagctccctcattatgg	6	9	11	15	2	1	1	1	1	0	0	4	2	4	2	5	4	1	1	5	4	1	1	rs139582730		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145439660C>T	ENST00000511217.1	+	8	1839	c.1787C>T	c.(1786-1788)gCg>gTg	p.A596V	SH3RF2_ENST00000511705.1_3'UTR|SH3RF2_ENST00000359120.4_Missense_Mutation_p.A596V			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	596							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCCACTCCGCGGCCAGCTCC	0.627													T	145439660	C	T	145439660	3	4	364	1	0	0	0	0	1	0	0	0	14353	768	27	1	1817	1	SH3RF2	5	145439660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121962	145439660	35475600	4821	28323											
PLAC8L1	153770	broad.mit.edu	37	chr5	145464109	145464109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcccaacagcagtgcacCgccagccagtcttcacacag	13	4	8	16	1	2	0	1	0	1	0	2	0	2	0	4	0	5	2	4	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145464109C>T	ENST00000311450.4	-	4	477	c.420G>A	c.(418-420)gcG>gcA	p.A140A		NM_001029869.1	NP_001025040.1	A1L4L8	PL8L1_HUMAN	PLAC8-like 1	140										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|stomach(2)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCAGTGCACCGCCAGCCAGT	0.522													T	145464109	C	T	145464109	2	4	364	1	0	0	0	0	0	0	0	1	12093	639	23	1		1	PLAC8L1	5	145464109	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24449	145464109	35451151	4822	28324											
LARS	51520	broad.mit.edu	37	chr5	145523015	145523015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgtccatgcaagttacCcccctgcaataggtgtgcaa	9	10	9	13	0	0	0	0	0	0	0	1	0	1	0	5	1	5	4	5	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145523015C>A	ENST00000394434.2	-	19	2003	c.1837G>T	c.(1837-1839)Ggt>Tgt	p.G613C	LARS_ENST00000274562.9_Missense_Mutation_p.G586C|LARS_ENST00000510191.1_Missense_Mutation_p.G559C|LARS_ENST00000545646.1_Missense_Mutation_p.G567C	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	613					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TGCAAGTTACCCCCCTGCAAT	0.453													A	145523015	C	A	145523015	3	1	364	1	0	0	0	0	1	0	0	0	8693	623	22	4	1749	4	LARS	5	145523015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58906	145523015	35392245	4823	28325											
LARS	51520	broad.mit.edu	37	chr5	145524035	145524035	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcactttctcccatcttacGtttccaggttcttcaagcac	8	15	4	14	1	5	0	2	0	3	0	7	0	6	0	2	1	2	3	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145524035G>A	ENST00000394434.2	-	17	1821	c.1655C>T	c.(1654-1656)aCa>aTa	p.T552I	LARS_ENST00000274562.9_Splice_Site_p.T525I|LARS_ENST00000510191.1_Splice_Site_p.T498I|LARS_ENST00000545646.1_Splice_Site_p.T506I	NM_020117.9	NP_064502.9	Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase	552					leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	CCCATCTTACGTTTCCAGGTT	0.363													A	145524035	G	A	145524035	5	1	364	1	0	0	0	0	0	0	1	0	8693	1159	40	1	1939	1	LARS	5	145524035	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1020	145524035	35391225	4824	28326											
LARS	51520	broad.mit.edu	37	chr5	145552302	145552302	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgaaggcgtccattcataTatggatatgggaaggttaca	14	11	11	5	1	1	1	1	1	0	0	2	3	2	3	1	4	1	1	1	4	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145552302T>C	ENST00000510191.1	-	0	171				LARS_ENST00000394434.2_Missense_Mutation_p.Y54C|LARS_ENST00000274562.9_Missense_Mutation_p.Y54C|LARS_ENST00000545646.1_Missense_Mutation_p.Y54C|LARS_ENST00000511505.1_5'UTR			Q9P2J5	SYLC_HUMAN	leucyl-tRNA synthetase						leucyl-tRNA aminoacylation	cytosol	ATP binding|leucine-tRNA ligase activity|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|skin(2)|stomach(8)	34			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Leucine(DB00149)	TCCATTCATATATGGATATGG	0.348													C	145552302	T	C	145552302	1	2	364	1	0	0	0	0	0	0	0	0	8693	1406	49	3		3	LARS	5	145552302	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28267	145552302	35362958	4825	28327											
RBM27	54439	broad.mit.edu	37	chr5	145664218	145664218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccaaaatttaaagaccgtCggctacagatatcatggcac	14	8	9	10	2	1	2	1	0	0	2	2	2	1	2	2	3	1	2	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145664218C>T	ENST00000265271.5	+	20	3188	c.3022C>T	c.(3022-3024)Cgg>Tgg	p.R1008W	RBM27_ENST00000506502.1_Intron	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	1008					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TAAAGACCGTCGGCTACAGAT	0.373													T	145664218	C	T	145664218	3	4	364	1	0	0	0	0	1	0	0	0	13215	875	31	1	3100	1	RBM27	5	145664218	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111916	145664218	35251042	4826	28328											
GPR151	134391	broad.mit.edu	37	chr5	145894747	145894747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttccctgaactcttcCgacatcacaagaaaaatgag	15	8	6	12	1	2	3	1	2	1	1	4	4	4	3	3	0	2	0	3	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:145894747C>T	ENST00000311104.2	-	1	1006	c.930G>A	c.(928-930)tcG>tcA	p.S310S		NM_194251.2	NP_919227.2	Q8TDV0	GP151_HUMAN	G protein-coupled receptor 151	310						integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(2)	14			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAACTCTTCCGACATCACAA	0.478													T	145894747	C	T	145894747	2	4	364	1	0	0	0	0	0	0	0	1	6711	639	23	1		1	GPR151	5	145894747	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230529	145894747	35020513	4827	28329											
PPP2R2B	5521	broad.mit.edu	37	chr5	146070694	146070694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtttgcactcacccgCagggttgtgatggtggcagg	6	10	15	10	1	1	1	1	1	0	0	1	1	1	1	1	4	2	6	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146070694C>T	ENST00000394413.3	-	4	1014	c.444G>A	c.(442-444)ctG>ctA	p.L148L	PPP2R2B_ENST00000504198.1_Silent_p.L154L|PPP2R2B_ENST00000336640.6_Silent_p.L151L|PPP2R2B_ENST00000356826.3_Silent_p.L148L|PPP2R2B_ENST00000394410.2_Silent_p.L137L|PPP2R2B_ENST00000530902.1_5'UTR|PPP2R2B_ENST00000394414.1_Silent_p.L214L|PPP2R2B_ENST00000394411.4_Silent_p.L148L|PPP2R2B_ENST00000453001.1_Silent_p.L148L|PPP2R2B_ENST00000394409.3_Silent_p.L206L|PPP2R2B_ENST00000508545.2_Silent_p.L137L			Q00005	2ABB_HUMAN	protein phosphatase 2, regulatory subunit B, beta	148					apoptosis|signal transduction	cytoskeleton|mitochondrial outer membrane|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(3)|kidney(4)|large_intestine(6)|liver(2)|lung(9)|ovary(1)|prostate(4)|skin(3)	32			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTCACCCGCAGGGTTGTGA	0.562													T	146070694	C	T	146070694	2	4	364	1	0	0	0	0	0	0	0	1	12467	697	25	2		2	PPP2R2B	5	146070694	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175947	146070694	34844566	4828	28330											
JAKMIP2	9832	broad.mit.edu	37	chr5	146997622	146997622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataattcaccaaacttgAtaacagtttcttgctgtaga	14	15	5	7	0	2	2	1	1	1	1	2	2	2	2	1	0	3	3	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:146997622A>G	ENST00000265272.5	-	19	2665	c.2198T>C	c.(2197-2199)aTc>aCc	p.I733T	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.I691T|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.I712T	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	733						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCAAACTTGATAACAGTTTC	0.408													G	146997622	A	G	146997622	3	3	364	1	0	0	0	0	1	0	0	0	7999	333	12	3	246	3	JAKMIP2	5	146997622	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	926928	146997622	33917638	4829	28331											
JAKMIP2	9832	broad.mit.edu	37	chr5	147020280	147020280	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttacttcatccaagtcaTcatcaggagtagctggtgtt	10	13	9	9	0	4	0	4	0	0	0	5	1	5	1	1	2	3	4	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147020280T>C	ENST00000265272.5	-	9	1855	c.1388A>G	c.(1387-1389)gAt>gGt	p.D463G	JAKMIP2_ENST00000333010.6_Missense_Mutation_p.D421G|JAKMIP2_ENST00000507386.1_Missense_Mutation_p.D463G	NM_001270941.1|NM_014790.4	NP_001257870.1|NP_055605.2	Q96AA8	JKIP2_HUMAN	janus kinase and microtubule interacting protein 2	463						Golgi apparatus				NS(1)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(22)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCCAAGTCATCATCAGGAGT	0.408													C	147020280	T	C	147020280	3	2	364	1	0	0	0	0	1	0	0	0	7999	1435	50	3	1096	3	JAKMIP2	5	147020280	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22658	147020280	33894980	4830	28332											
SCGB3A2	117156	broad.mit.edu	37	chr5	147261008	147261008	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtttctctttttcctgcaGctactgccttcctcatcaac	5	17	5	14	0	3	0	2	0	1	0	6	0	5	0	3	1	5	3	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:147261008G>T	ENST00000296694.4	+	2	148		c.e2-1		SCGB3A2_ENST00000514688.1_Splice_Site|C5orf46_ENST00000510432.1_Intron|SCGB3A2_ENST00000504320.1_Splice_Site	NM_054023.4	NP_473364.1	Q96PL1	SG3A2_HUMAN	secretoglobin, family 3A, member 2							extracellular region	binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTTCCTGCAGCTACTGCCTT	0.473													T	147261008	G	T	147261008	5	4	364	1	0	0	0	0	0	0	1	0	13994	985	34	4	61	4	SCGB3A2	5	147261008	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240728	147261008	33654252	4831	28333											
ABLIM3	22885	broad.mit.edu	37	chr5	148627447	148627447	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagctccaccagcagcCgggaagccctgcacacagct	9	3	11	18	2	0	0	0	0	0	0	1	2	1	2	5	2	6	4	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148627447C>T	ENST00000506113.1	+	17	2136	c.1654C>T	c.(1654-1656)Cgg>Tgg	p.R552W	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R441W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R552W|AC012613.2_ENST00000523176.1_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R519W|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R457W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R441W|ABLIM3_ENST00000517451.1_Missense_Mutation_p.R38W|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	552					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGCAGCCGGGAAGCCCT	0.597													T	148627447	C	T	148627447	3	4	364	1	0	0	0	0	1	0	0	0	96	643	23	1	1720	1	ABLIM3	5	148627447	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366439	148627447	32287813	4832	28334											
PCYOX1L	78991	broad.mit.edu	37	chr5	148747676	148747676	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcagcagcaacttaacctTtgcaggcttccacccgccca	10	7	7	17	1	0	0	0	0	0	0	1	0	1	0	4	1	6	5	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148747676T>G	ENST00000514349.1	+	5	1253	c.674T>G	c.(673-675)tTt>tGt	p.F225C	PCYOX1L_ENST00000274569.4_Missense_Mutation_p.F315C			Q8NBM8	PCYXL_HUMAN	prenylcysteine oxidase 1 like	315					prenylcysteine catabolic process	extracellular region	oxidoreductase activity, acting on a sulfur group of donors, oxygen as acceptor			breast(2)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACTTAACCTTTGCAGGCTTC	0.567											OREG0016912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	148747676	T	G	148747676	3	3	364	1	0	0	0	0	1	0	0	0	11685	1841	64	5	966	5	PCYOX1L	5	148747676	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120229	148747676	32167584	4833	28335											
IL17B	27190	broad.mit.edu	37	chr5	148756437	148756437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcatactcctccatgCgggcatacggtttcatccgt	6	13	7	15	3	2	0	2	0	1	0	7	0	6	0	4	2	3	2	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148756437C>T	ENST00000261796.3	-	2	223	c.173G>A	c.(172-174)cGc>cAc	p.R58H	IL17B_ENST00000505432.1_5'UTR	NM_014443.2	NP_055258.1	Q9UHF5	IL17B_HUMAN	interleukin 17B	58					cell-cell signaling|immune response|inflammatory response	extracellular space	cytokine activity|signal transducer activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)|urinary_tract(1)	8			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCCTCCATGCGGGCATACGG	0.617													T	148756437	C	T	148756437	3	4	364	1	0	0	0	0	1	0	0	0	7693	768	27	1	377	1	IL17B	5	148756437	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8761	148756437	32158823	4834	28336											
CSNK1A1	1452	broad.mit.edu	37	chr5	148885022	148885022	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactaacctttcatgttacTcttggttttgtcagtttgct	6	20	6	9	0	3	0	2	0	1	0	3	0	3	0	1	1	4	4	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148885022T>G	ENST00000377843.2	-	9	1473	c.994A>C	c.(994-996)Agt>Cgt	p.S332R	CSNK1A1_ENST00000515435.1_Intron|CSNK1A1_ENST00000606299.1_Missense_Mutation_p.S92R|CSNK1A1_ENST00000261798.5_Intron|CSNK1A1_ENST00000606719.1_Missense_Mutation_p.S129R|CSNK1A1_ENST00000504676.1_Intron|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.S360R	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	332					cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		TTCATGTTACTCTTGGTTTTG	0.448													G	148885022	T	G	148885022	3	3	364	1	0	0	0	0	1	0	0	0	3983	1551	54	5	27	5	CSNK1A1	5	148885022	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	128585	148885022	32030238	4835	28337											
CSNK1A1	1452	broad.mit.edu	37	chr5	148899866	148899866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactaaccttattacagtgaCgcccaatacccattaggaag	14	9	7	11	1	0	1	0	1	0	0	0	3	0	2	3	1	3	0	3	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148899866C>T	ENST00000261798.5	-	4	875	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CSNK1A1_ENST00000377843.2_Missense_Mutation_p.R148H|CSNK1A1_ENST00000515435.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000504676.1_Missense_Mutation_p.R59H|CSNK1A1_ENST00000515768.1_Missense_Mutation_p.R148H	NM_001271741.1	NP_001258670.1	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	148	Protein kinase.				cell division|mitosis|Wnt receptor signaling pathway	centrosome|condensed chromosome kinetochore|cytosol|nuclear speck	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		ATTACAGTGACGCCCAATACC	0.318													T	148899866	C	T	148899866	3	4	364	1	0	0	0	0	1	0	0	0	3983	536	19	1	686	1	CSNK1A1	5	148899866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14844	148899866	32015394	4836	28338											
ARHGEF37	389337	broad.mit.edu	37	chr5	148996239	148996239	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaacacagtccctgatGccagtgcctatcctgtcctt	8	11	9	13	0	0	2	0	1	0	1	3	3	3	2	5	1	3	0	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148996239G>C	ENST00000333677.6	+	5	731	c.568G>C	c.(568-570)Gcc>Ccc	p.A190P		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	190	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						AGTCCCTGATGCCAGTGCCTA	0.517													C	148996239	G	C	148996239	3	2	364	1	0	0	0	0	1	0	0	0	909	1319	46	4	582	4	ARHGEF37	5	148996239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96373	148996239	31919021	4837	28339											
ARHGEF37	389337	broad.mit.edu	37	chr5	148997783	148997783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaccctccgggagcggCtggcccgcatcaacacacac	9	4	11	17	3	1	1	1	1	0	0	2	2	2	2	3	3	3	3	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:148997783C>A	ENST00000333677.6	+	6	866	c.703C>A	c.(703-705)Ctg>Atg	p.L235M		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	235					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						CCGGGAGCGGCTGGCCCGCAT	0.622													A	148997783	C	A	148997783	3	1	364	1	0	0	0	0	1	0	0	0	909	796	28	4	721	4	ARHGEF37	5	148997783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1544	148997783	31917477	4838	28340											
ARHGEF37	389337	broad.mit.edu	37	chr5	149011551	149011551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtgtttcaggtcataGccgcgtacccttttgtggcc	5	13	10	13	2	2	0	2	0	0	0	2	0	2	0	4	2	2	2	4	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149011551G>T	ENST00000333677.6	+	13	1988	c.1825G>T	c.(1825-1827)Gcc>Tcc	p.A609S		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	609	SH3 2.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						TCAGGTCATAGCCGCGTACCC	0.562													T	149011551	G	T	149011551	3	4	364	1	0	0	0	0	1	0	0	0	909	971	34	4	1871	4	ARHGEF37	5	149011551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13768	149011551	31903709	4839	28341											
PPARGC1B	133522	broad.mit.edu	37	chr5	149212524	149212524	+	Silent	SNP	C	C	A																															ctcatacgctacatgcacacCtactgcctcccccagaggaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212524C>A	ENST00000309241.5	+	5	920	c.888C>A	c.(886-888)acC>acA	p.T296T	PPARGC1B_ENST00000394320.3_Silent_p.T296T|PPARGC1B_ENST00000360453.4_Silent_p.T257T|PPARGC1B_ENST00000403750.1_Silent_p.T232T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	296					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACATGCACACCTACTGCCTCC	0.667													A	149212524	C	A	149212524	2	1	364	1	0	0	0	0	0	0	0	1	12378	668	24	4		4	PPARGC1B	5	149212524	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200973	149212524	31702736	4840	28342	62	2									
PPARGC1B	133522	broad.mit.edu	37	chr5	149212534	149212534	+	Missense_Mutation	SNP	C	C	A																															acatgcacacctactgcctcCcccagaggaagctgccccca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149212534C>A	ENST00000309241.5	+	5	930	c.898C>A	c.(898-900)Ccc>Acc	p.P300T	PPARGC1B_ENST00000394320.3_Missense_Mutation_p.P300T|PPARGC1B_ENST00000360453.4_Missense_Mutation_p.P261T|PPARGC1B_ENST00000403750.1_Missense_Mutation_p.P236T	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	300					estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			CTACTGCCTCCCCCAGAGGAA	0.662													A	149212534	C	A	149212534	3	1	364	1	0	0	0	0	1	0	0	0	12378	623	22	4	923	4	PPARGC1B	5	149212534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10	149212534	31702726	4841	28343	62	2									
CSF1R	1436	broad.mit.edu	37	chr5	149435686	149435686	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctctggggccatccacttCacaggcaggcgggcctggga	6	7	14	14	1	2	0	1	0	1	0	4	1	3	1	3	6	0	1	3	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149435686C>T	ENST00000286301.3	-	19	2748	c.2457G>A	c.(2455-2457)gtG>gtA	p.V819V		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	819	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CCATCCACTTCACAGGCAGGC	0.592													T	149435686	C	T	149435686	2	4	364	1	0	0	0	0	0	0	0	1	3965	813	29	2		2	CSF1R	5	149435686	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	223152	149435686	31479574	4842	28344											
CSF1R	1436	broad.mit.edu	37	chr5	149437134	149437134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacataggtgtccacaccCtggctggagaagccactgtc	9	8	10	14	0	0	1	0	0	0	1	3	2	2	1	4	3	1	1	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149437134C>T	ENST00000286301.3	-	16	2445	c.2154G>A	c.(2152-2154)caG>caA	p.Q718Q		NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	718	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGTCCACACCCTGGCTGGAGA	0.577													T	149437134	C	T	149437134	2	4	364	1	0	0	0	0	0	0	0	1	3965	680	24	2		2	CSF1R	5	149437134	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1448	149437134	31478126	4843	28345											
CSF1R	1436	broad.mit.edu	37	chr5	149439387	149439387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgcagaaagttgagcaggtCgccatagcaacagtactccg	12	7	11	11	3	0	2	0	1	0	1	3	2	1	2	2	1	4	5	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149439387C>T	ENST00000286301.3	-	15	2299	c.2008G>A	c.(2008-2010)Gac>Aac	p.D670N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	670	Protein kinase.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTGAGCAGGTCGCCATAGCAA	0.612													T	149439387	C	T	149439387	3	4	364	1	0	0	0	0	1	0	0	0	3965	884	31	1	942	1	CSF1R	5	149439387	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2253	149439387	31475873	4844	28346											
CSF1R	1436	broad.mit.edu	37	chr5	149441346	149441346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaggcagctgcgtggggtCgatgaaagtataactgttgc	10	10	15	6	2	0	1	0	1	0	0	1	2	0	1	0	3	4	5	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149441346C>T	ENST00000286301.3	-	12	1984	c.1693G>A	c.(1693-1695)Gac>Aac	p.D565N	CSF1R_ENST00000515239.1_5'UTR	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	565					cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TGCGTGGGGTCGATGAAAGTA	0.552													T	149441346	C	T	149441346	3	4	364	1	0	0	0	0	1	0	0	0	3965	884	31	1	1269	1	CSF1R	5	149441346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1959	149441346	31473914	4845	28347											
CSF1R	1436	broad.mit.edu	37	chr5	149457685	149457685	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggactgaccttggtgttgTtgtgttggaggaagacatca	9	12	15	5	0	1	2	1	1	0	1	1	5	1	5	1	4	0	3	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149457685T>C	ENST00000286301.3	-	5	1010	c.719A>G	c.(718-720)aAc>aGc	p.N240S	CSF1R_ENST00000543093.1_Missense_Mutation_p.N240S	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	240	Ig-like C2-type 3.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	CTTGGTGTTGTTGTGTTGGAG	0.572													C	149457685	T	C	149457685	3	2	364	1	0	0	0	0	1	0	0	0	3965	1725	60	3	2271	3	CSF1R	5	149457685	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16339	149457685	31457575	4846	28348											
CSF1R	1436	broad.mit.edu	37	chr5	149459812	149459812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacgcctgcttccagcaccGggtctgtgagcagacagggc	8	6	14	13	2	1	3	0	1	1	2	2	3	2	3	3	2	3	3	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149459812G>T	ENST00000286301.3	-	4	686	c.395C>A	c.(394-396)cCg>cAg	p.P132Q	CSF1R_ENST00000543093.1_Missense_Mutation_p.P132Q	NM_005211.3	NP_005202.2	P07333	CSF1R_HUMAN	colony stimulating factor 1 receptor	132	Ig-like C2-type 2.				cell proliferation|multicellular organismal development|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|receptor complex	ATP binding|cytokine binding|macrophage colony-stimulating factor receptor activity|protein homodimerization activity			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(38)|kidney(2)|large_intestine(6)|liver(3)|lung(23)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	93			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		Imatinib(DB00619)|Sunitinib(DB01268)	TTCCAGCACCGGGTCTGTGAG	0.642													T	149459812	G	T	149459812	3	4	364	1	0	0	0	0	1	0	0	0	3965	1116	39	4	2599	4	CSF1R	5	149459812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2127	149459812	31455448	4847	28349											
PDGFRB	5159	broad.mit.edu	37	chr5	149501462	149501462	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagggaacgtagttatcGtaaggggccatgtagttgga	11	9	15	6	2	0	1	0	0	0	1	1	3	0	3	2	4	1	5	2	4	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149501462G>A	ENST00000261799.4	-	16	2794	c.2325C>T	c.(2323-2325)taC>taT	p.Y775Y		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	775	Protein kinase.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CGTAGTTATCGTAAGGGGCCA	0.512			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								A	149501462	G	A	149501462	2	1	364	1	0	0	0	0	0	0	0	1	11738	1140	40	1		1	PDGFRB	5	149501462	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41650	149501462	31413798	4848	28350											
SLC6A7	6534	broad.mit.edu	37	chr5	149578855	149578855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagatccgctggaacCtctgcctctgcctgctgctg	4	10	13	14	1	2	1	0	0	2	1	3	3	3	2	4	3	5	3	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149578855C>T	ENST00000230671.2	+	5	1020	c.649C>T	c.(649-651)Ctc>Ttc	p.L217F	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L217F	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	217						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	CCGCTGGAACCTCTGCCTCTG	0.637													T	149578855	C	T	149578855	3	4	364	1	0	0	0	0	1	0	0	0	14783	681	24	2	667	2	SLC6A7	5	149578855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77393	149578855	31336405	4849	28351											
CAMK2A	815	broad.mit.edu	37	chr5	149602646	149602646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtctcctccgactgggCggtgcgtgggatgccgccag	4	7	17	13	5	1	0	0	0	1	0	3	2	2	1	4	4	2	0	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149602646C>T	ENST00000348628.6	-	17	2004	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	CAMK2A_ENST00000351010.6_5'UTR|CAMK2A_ENST00000398376.3_Missense_Mutation_p.A458T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	447					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCGACTGGGCGGTGCGTGGG	0.642													T	149602646	C	T	149602646	3	4	364	1	0	0	0	0	1	0	0	0	2625	768	27	1	105	1	CAMK2A	5	149602646	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23791	149602646	31312614	4850	28352											
CAMK2A	815	broad.mit.edu	37	chr5	149619269	149619269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagacggcagacactcaccaTtaactgaacgctggaactgg	13	6	11	11	2	1	3	1	1	0	2	1	5	1	4	1	3	3	2	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149619269T>C	ENST00000398376.3	-	14	1018	c.1015A>G	c.(1015-1017)Atg>Gtg	p.M339V	CAMK2A_ENST00000348628.6_Intron|CAMK2A_ENST00000351010.6_Intron			Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	328					interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACACTCACCATTAACTGAACG	0.562													C	149619269	T	C	149619269	3	2	364	1	0	0	0	0	1	0	0	0	2625	1493	52	3	478	3	CAMK2A	5	149619269	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16623	149619269	31295991	4851	28353											
TCOF1	6949	broad.mit.edu	37	chr5	149749101	149749101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgatcctcagggatggtgtCagcgggccaggccgacagct	7	6	15	13	3	2	0	2	0	0	0	3	3	3	1	4	4	2	1	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149749101C>T	ENST00000451292.1	+	6	683	c.575C>T	c.(574-576)tCa>tTa	p.S192L	TCOF1_ENST00000445265.2_Missense_Mutation_p.S192L|TCOF1_ENST00000394269.3_Missense_Mutation_p.S192L|TCOF1_ENST00000513346.1_Missense_Mutation_p.S192L|TCOF1_ENST00000377797.3_Missense_Mutation_p.S192L|TCOF1_ENST00000504761.2_Missense_Mutation_p.S192L|TCOF1_ENST00000439160.2_Missense_Mutation_p.S192L|TCOF1_ENST00000323668.7_Missense_Mutation_p.S192L			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	192					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGATGGTGTCAGCGGGCCAG	0.632													T	149749101	C	T	149749101	3	4	364	1	0	0	0	0	1	0	0	0	15808	838	29	2	597	2	TCOF1	5	149749101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129832	149749101	31166159	4852	28354											
TCOF1	6949	broad.mit.edu	37	chr5	149759187	149759187	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgccccaacacctcctggGaagacagggccttcggctgc	7	6	12	16	1	0	1	0	0	0	1	2	2	1	2	5	3	3	2	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149759187G>T	ENST00000451292.1	+	17	2859	c.2751G>T	c.(2749-2751)ggG>ggT	p.G917G	TCOF1_ENST00000445265.2_Silent_p.G840G|TCOF1_ENST00000394269.3_Silent_p.G917G|TCOF1_ENST00000513346.1_Silent_p.G917G|TCOF1_ENST00000506063.1_3'UTR|TCOF1_ENST00000377797.3_Silent_p.G917G|TCOF1_ENST00000504761.2_Silent_p.G917G|TCOF1_ENST00000439160.2_Silent_p.G917G|TCOF1_ENST00000323668.7_Silent_p.G840G			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	917					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACCTCCTGGGAAGACAGGGC	0.637													T	149759187	G	T	149759187	2	4	364	1	0	0	0	0	0	0	0	1	15808	1161	41	4		4	TCOF1	5	149759187	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10086	149759187	31156073	4853	28355											
NDST1	3340	broad.mit.edu	37	chr5	149901306	149901306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactgtgtggcctacggcGtgggcatcattggcttcttc	5	13	13	10	2	2	0	1	0	1	0	3	0	2	0	1	4	2	3	1	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149901306G>A	ENST00000261797.6	+	2	992	c.490G>A	c.(490-492)Gtg>Atg	p.V164M	NDST1_ENST00000523767.1_Missense_Mutation_p.V164M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	164	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCCTACGGCGTGGGCATCAT	0.542													A	149901306	G	A	149901306	3	1	364	1	0	0	0	0	1	0	0	0	10331	1145	40	1	492	1	NDST1	5	149901306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142119	149901306	31013954	4854	28356											
NDST1	3340	broad.mit.edu	37	chr5	149927815	149927815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgacccagtggccctaaaGtacaccttccatgaggtgat	11	8	10	12	1	0	2	0	2	0	0	1	4	1	2	4	2	1	1	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:149927815G>A	ENST00000261797.6	+	12	2683	c.2181G>A	c.(2179-2181)aaG>aaA	p.K727K	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	727	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGGCCCTAAAGTACACCTTCC	0.612													A	149927815	G	A	149927815	2	1	364	1	0	0	0	0	0	0	0	1	10331	1020	36	2		2	NDST1	5	149927815	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26509	149927815	30987445	4855	28357											
ZNF300	91975	broad.mit.edu	37	chr5	150276166	150276166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctccaaaactctgatcaGgtttttttcttgaattgctc	9	16	5	11	0	3	2	1	2	2	0	5	2	4	2	2	1	2	2	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276166G>T	ENST00000446148.2	-	7	1110	c.683C>A	c.(682-684)cCt>cAt	p.P228H	ZNF300_ENST00000274599.5_Missense_Mutation_p.P212H|ZNF300_ENST00000394226.2_Missense_Mutation_p.P212H|ZNF300_ENST00000418587.2_Missense_Mutation_p.P176H|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTCTGATCAGGTTTTTTTCT	0.328													T	150276166	G	T	150276166	3	4	364	1	0	0	0	0	1	0	0	0	17932	1000	35	4	1183	4	ZNF300	5	150276166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348351	150276166	30639094	4856	28358											
ZNF300	91975	broad.mit.edu	37	chr5	150276343	150276343	+	Missense_Mutation	SNP	C	C	T																															atgcctcagtcactgttttgCtgttaacaaatgtgacctgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276343C>T	ENST00000446148.2	-	7	933	c.506G>A	c.(505-507)aGc>aAc	p.S169N	ZNF300_ENST00000274599.5_Missense_Mutation_p.S153N|ZNF300_ENST00000394226.2_Missense_Mutation_p.S153N|ZNF300_ENST00000418587.2_Missense_Mutation_p.S117N|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CACTGTTTTGCTGTTAACAAA	0.378													T	150276343	C	T	150276343	3	4	364	1	0	0	0	0	1	0	0	0	17932	797	28	2	1360	2	ZNF300	5	150276343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	150276343	30638917	4857	28359	63	2									
ZNF300	91975	broad.mit.edu	37	chr5	150276353	150276353	+	Missense_Mutation	SNP	A	A	C																															cactgttttgctgttaacaaAtgtgacctgcctgaagagtt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150276353A>C	ENST00000446148.2	-	7	923	c.496T>G	c.(496-498)Ttt>Gtt	p.F166V	ZNF300_ENST00000274599.5_Missense_Mutation_p.F150V|ZNF300_ENST00000394226.2_Missense_Mutation_p.F150V|ZNF300_ENST00000418587.2_Missense_Mutation_p.F114V|ZNF300_ENST00000427179.1_3'UTR	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	150					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGTTAACAAATGTGACCTGC	0.393													C	150276353	A	C	150276353	3	2	364	1	0	0	0	0	1	0	0	0	17932	101	4	5	1370	5	ZNF300	5	150276353	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10	150276353	30638907	4858	28360	63	2									
TNIP1	10318	broad.mit.edu	37	chr5	150444602	150444602	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagctgcggatgcctctcCtgagggcacgctgcccccag	8	6	12	15	2	1	1	0	1	1	0	2	2	1	2	4	2	4	3	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150444602C>A	ENST00000389378.2	-	2	643	c.55G>T	c.(55-57)Gga>Tga	p.G19*	TNIP1_ENST00000523338.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000518977.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000523200.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000521591.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000520931.1_Intron|TNIP1_ENST00000315050.7_Nonsense_Mutation_p.G19*|TNIP1_ENST00000522226.1_Nonsense_Mutation_p.G19*|TNIP1_ENST00000524280.1_Nonsense_Mutation_p.G19*	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	19					defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGCCTCTCCTGAGGGCACG	0.587													A	150444602	C	A	150444602	4	1	364	1	0	0	0	0	0	1	0	0	16414	690	24	4	1923	4	TNIP1	5	150444602	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168249	150444602	30470658	4859	28361											
ANXA6	309	broad.mit.edu	37	chr5	150488054	150488054	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacatccccagacatcTccttcttgatggtgtgctcc	6	12	7	16	0	2	3	0	2	2	1	5	3	4	3	5	1	1	1	5	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150488054T>C	ENST00000354546.5	-	23	1969	c.1742A>G	c.(1741-1743)gAg>gGg	p.E581G	ANXA6_ENST00000356496.5_Missense_Mutation_p.E575G|ANXA6_ENST00000523714.1_Missense_Mutation_p.E549G|ANXA6_ENST00000377751.5_Missense_Mutation_p.E238G|ANXA6_ENST00000521512.1_Missense_Mutation_p.E368G	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	581						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCAGACATCTCCTTCTTGAT	0.537													C	150488054	T	C	150488054	3	2	364	1	0	0	0	0	1	0	0	0	722	1551	54	3	295	3	ANXA6	5	150488054	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43452	150488054	30427206	4860	28362											
ANXA6	309	broad.mit.edu	37	chr5	150512099	150512099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggatgctggcttcaatcGgcttccctgtggtcttcaga	5	13	11	12	2	3	1	2	0	1	1	6	2	4	2	1	4	1	3	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150512099G>A	ENST00000354546.5	-	10	901	c.674C>T	c.(673-675)cCg>cTg	p.P225L	ANXA6_ENST00000356496.5_Missense_Mutation_p.P225L|ANXA6_ENST00000523714.1_Missense_Mutation_p.P193L|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	225						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGCTTCAATCGGCTTCCCTGT	0.542													A	150512099	G	A	150512099	3	1	364	1	0	0	0	0	1	0	0	0	722	1116	39	1	1415	1	ANXA6	5	150512099	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24045	150512099	30403161	4861	28363											
ANXA6	309	broad.mit.edu	37	chr5	150514015	150514015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgttgtaccaggtcctcGctcactacgtcatcctcctc	5	13	6	17	2	2	0	2	0	0	0	8	0	6	0	5	1	2	3	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150514015G>A	ENST00000354546.5	-	8	746	c.519C>T	c.(517-519)agC>agT	p.S173S	ANXA6_ENST00000356496.5_Silent_p.S173S|ANXA6_ENST00000523714.1_Silent_p.S141S|ANXA6_ENST00000377751.5_Intron|ANXA6_ENST00000521512.1_Intron	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	173						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGGTCCTCGCTCACTACGT	0.562													A	150514015	G	A	150514015	2	1	364	1	0	0	0	0	0	0	0	1	722	1078	38	1		1	ANXA6	5	150514015	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1916	150514015	30401245	4862	28364											
FAT2	2196	broad.mit.edu	37	chr5	150892037	150892037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctgtcaaccatcaggCgaatggaagcgtccatctcc	10	8	9	14	2	3	0	2	0	1	0	5	2	4	1	4	2	3	1	4	2	3	0	rs139222111		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150892037C>T	ENST00000261800.5	-	20	11606	c.11594G>A	c.(11593-11595)cGc>cAc	p.R3865H	CTC-251D13.1_ENST00000606930.1_RNA	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3865	Laminin G-like.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACCATCAGGCGAATGGAAGC	0.582													T	150892037	C	T	150892037	3	4	364	1	0	0	0	0	1	0	0	0	5739	768	27	1	1471	1	FAT2	5	150892037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	378022	150892037	30023223	4863	28365											
FAT2	2196	broad.mit.edu	37	chr5	150900894	150900894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaggatgctgagcctggCggtgctgtacgtgggcccaa	6	9	17	9	2	0	1	0	1	0	0	0	2	0	2	2	5	4	4	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150900894C>T	ENST00000261800.5	-	18	11272	c.11260G>A	c.(11260-11262)Gcc>Acc	p.A3754T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3754					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGAGCCTGGCGGTGCTGTAC	0.612													T	150900894	C	T	150900894	3	4	364	1	0	0	0	0	1	0	0	0	5739	768	27	1	1813	1	FAT2	5	150900894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8857	150900894	30014366	4864	28366											
FAT2	2196	broad.mit.edu	37	chr5	150901209	150901209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacctctgcaggttccGccagtggtcactcaccagct	8	8	11	14	1	3	0	2	0	1	0	4	2	4	1	4	3	3	3	4	3	1	1	rs142359154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150901209G>A	ENST00000261800.5	-	18	10957	c.10945C>T	c.(10945-10947)Cgg>Tgg	p.R3649W		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3649					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCAGGTTCCGCCAGTGGTCA	0.607													A	150901209	G	A	150901209	3	1	364	1	0	0	0	0	1	0	0	0	5739	1086	38	1	2128	1	FAT2	5	150901209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315	150901209	30014051	4865	28367											
FAT2	2196	broad.mit.edu	37	chr5	150911154	150911154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaggctctcacctgtgcGagcatccaggcggaacctgc	8	7	12	14	2	2	0	2	0	1	0	4	3	3	1	3	3	4	2	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150911154G>A	ENST00000261800.5	-	13	9817	c.9805C>T	c.(9805-9807)Cgc>Tgc	p.R3269C		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3269	Cadherin 29.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCACCTGTGCGAGCATCCAGG	0.652													A	150911154	G	A	150911154	3	1	364	1	0	0	0	0	1	0	0	0	5739	1058	37	1	3288	1	FAT2	5	150911154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9945	150911154	30004106	4866	28368											
FAT2	2196	broad.mit.edu	37	chr5	150917383	150917383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagcttgaattcatgcGccccagggccatgcagagaa	11	7	11	12	1	1	2	1	1	0	1	2	4	2	2	4	1	3	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150917383G>A	ENST00000261800.5	-	11	9176	c.9164C>T	c.(9163-9165)gCg>gTg	p.A3055V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3055	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GAATTCATGCGCCCCAGGGCC	0.463													A	150917383	G	A	150917383	3	1	364	1	0	0	0	0	1	0	0	0	5739	1087	38	1	3937	1	FAT2	5	150917383	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6229	150917383	29997877	4867	28369											
FAT2	2196	broad.mit.edu	37	chr5	150922829	150922829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttcactgagtaggtgAcatctgcgttctgaccttca	7	13	11	10	1	4	3	2	3	2	0	4	3	4	3	1	2	1	3	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150922829A>G	ENST00000261800.5	-	9	7871	c.7859T>C	c.(7858-7860)gTc>gCc	p.V2620A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2620	Cadherin 23.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGAGTAGGTGACATCTGCGTT	0.463													G	150922829	A	G	150922829	3	3	364	1	0	0	0	0	1	0	0	0	5739	275	10	3	5250	3	FAT2	5	150922829	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5446	150922829	29992431	4868	28370											
FAT2	2196	broad.mit.edu	37	chr5	150929016	150929016	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttccatcctccacatgAatggtcacccacacgaagtt	11	10	7	13	1	1	1	1	1	0	0	4	2	4	1	4	2	0	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150929016A>C	ENST00000261800.5	-	8	4641	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1543	Cadherin 13.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCACATGAATGGTCACCC	0.542													C	150929016	A	C	150929016	3	2	364	1	0	0	0	0	1	0	0	0	5739	242	9	5	8484	5	FAT2	5	150929016	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6187	150929016	29986244	4869	28371											
FAT2	2196	broad.mit.edu	37	chr5	150934222	150934222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtgagggttccccattgtCcagcacagtcacctgggagc	8	8	12	13	0	1	1	1	1	0	0	3	2	3	2	4	2	2	2	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150934222C>T	ENST00000261800.5	-	4	3658	c.3646G>A	c.(3646-3648)Gac>Aac	p.D1216N		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1216	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCCATTGTCCAGCACAGTC	0.473													T	150934222	C	T	150934222	3	4	364	1	0	0	0	0	1	0	0	0	5739	855	30	2	9483	2	FAT2	5	150934222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5206	150934222	29981038	4870	28372											
FAT2	2196	broad.mit.edu	37	chr5	150945414	150945414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaagtggggagggtggaGattctcattcacatccagga	11	8	15	7	0	2	1	2	0	1	1	4	4	3	3	1	6	0	1	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945414G>T	ENST00000261800.5	-	1	3091	c.3079C>A	c.(3079-3081)Ctc>Atc	p.L1027I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1027	Cadherin 8.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAGGGTGGAGATTCTCATTC	0.602													T	150945414	G	T	150945414	3	4	364	1	0	0	0	0	1	0	0	0	5739	942	33	4	10062	4	FAT2	5	150945414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11192	150945414	29969846	4871	28373											
FAT2	2196	broad.mit.edu	37	chr5	150945768	150945768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgtgattatcaggtcagTgacagagaagagctggtggc	12	9	14	6	0	2	4	2	2	0	2	2	5	2	4	0	3	1	1	0	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150945768T>C	ENST00000261800.5	-	1	2737	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	909	Cadherin 7.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCAGGTCAGTGACAGAGAAG	0.562													C	150945768	T	C	150945768	3	2	364	1	0	0	0	0	1	0	0	0	5739	1696	59	3	10416	3	FAT2	5	150945768	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	354	150945768	29969492	4872	28374											
FAT2	2196	broad.mit.edu	37	chr5	150946459	150946459	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggatagtctttgtgaaTtgtgtcaatacccctgtttt	8	17	10	6	0	2	1	1	1	1	0	2	3	2	3	2	2	1	1	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946459T>G	ENST00000261800.5	-	1	2046	c.2034A>C	c.(2032-2034)caA>caC	p.Q678H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	678					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCTTTGTGAATTGTGTCAATA	0.398													G	150946459	T	G	150946459	3	3	364	1	0	0	0	0	1	0	0	0	5739	1490	52	5	11107	5	FAT2	5	150946459	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	691	150946459	29968801	4873	28375											
FAT2	2196	broad.mit.edu	37	chr5	150946498	150946498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcacatgttacaggaacTtcaaaatgagggtccttcac	13	12	7	9	0	3	1	3	1	0	0	4	2	4	2	1	2	2	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150946498T>C	ENST00000261800.5	-	1	2007	c.1995A>G	c.(1993-1995)gaA>gaG	p.E665E		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	665	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACAGGAACTTCAAAATGAG	0.423													C	150946498	T	C	150946498	2	2	364	1	0	0	0	0	0	0	0	1	5739	1606	56	3		3	FAT2	5	150946498	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39	150946498	29968762	4874	28376											
FAT2	2196	broad.mit.edu	37	chr5	150947377	150947377	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaggaggggaaaactcActaagctgcactctgtaaac	13	7	10	11	0	2	0	1	0	1	0	2	2	2	2	1	3	5	3	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947377A>G	ENST00000261800.5	-	1	1128	c.1116T>C	c.(1114-1116)agT>agC	p.S372S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	372	Cadherin 3.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGAAAACTCACTAAGCTGCA	0.507													G	150947377	A	G	150947377	2	3	364	1	0	0	0	0	0	0	0	1	5739	156	6	3		3	FAT2	5	150947377	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	879	150947377	29967883	4875	28377											
FAT2	2196	broad.mit.edu	37	chr5	150947407	150947407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actctgtaaacagccttctcGaatttgagggaagacagttt	12	12	9	8	1	2	2	0	1	2	1	3	4	2	3	1	1	2	2	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:150947407G>A	ENST00000261800.5	-	1	1098	c.1086C>T	c.(1084-1086)ttC>ttT	p.F362F		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	362					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGCCTTCTCGAATTTGAGGG	0.547													A	150947407	G	A	150947407	2	1	364	1	0	0	0	0	0	0	0	1	5739	1049	37	1		1	FAT2	5	150947407	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	150947407	29967853	4876	28378											
ATOX1	475	broad.mit.edu	37	chr5	151125971	151125971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtgctcagattcaatgCagaccttcttgttgggcagg	7	13	12	9	0	3	2	2	0	1	2	3	2	3	2	1	2	3	5	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151125971C>T	ENST00000521264.1	-	3	246	c.137G>A	c.(136-138)tGc>tAc	p.C46Y	ATOX1_ENST00000522314.1_Missense_Mutation_p.C32Y|ATOX1_ENST00000522710.1_Missense_Mutation_p.C41Y|ATOX1_ENST00000524142.1_Missense_Mutation_p.C41Y|ATOX1_ENST00000313115.6_Missense_Mutation_p.C41Y|ATOX1_ENST00000520382.1_Missense_Mutation_p.C32Y			O00244	ATOX1_HUMAN	antioxidant 1 copper chaperone	41	HMA.				cellular copper ion homeostasis|copper ion transport|response to oxidative stress	cytosol	copper chaperone activity|copper-dependent protein binding						Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			AGATTCAATGCAGACCTTCTT	0.517													T	151125971	C	T	151125971	3	4	364	1	0	0	0	0	1	0	0	0	1120	710	25	2	88	2	ATOX1	5	151125971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178564	151125971	29789289	4877	28379											
G3BP1	10146	broad.mit.edu	37	chr5	151179873	151179873	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggcaacctgcctcatgaAgtggacaaatcagagcttaa	14	9	9	9	0	2	2	2	1	0	1	2	3	2	3	2	2	3	2	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151179873A>G	ENST00000394123.3	+	10	1195	c.1050A>G	c.(1048-1050)gaA>gaG	p.E350E	G3BP1_ENST00000543466.1_Silent_p.E168E|G3BP1_ENST00000356245.3_Silent_p.E350E			Q13283	G3BP1_HUMAN	GTPase activating protein (SH3 domain) binding protein 1	350	RRM.				Ras protein signal transduction|transport	cytosol|nucleus|plasma membrane	ATP binding|ATP-dependent DNA helicase activity|ATP-dependent RNA helicase activity|DNA binding|endonuclease activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|skin(3)|urinary_tract(2)	29		all_hematologic(541;0.0338)|Medulloblastoma(196;0.091)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)			TGCCTCATGAAGTGGACAAAT	0.433													G	151179873	A	G	151179873	2	3	364	1	0	0	0	0	0	0	0	1	6193	69	3	3		3	G3BP1	5	151179873	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53902	151179873	29735387	4878	28380											
NMUR2	56923	broad.mit.edu	37	chr5	151784197	151784197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgagggcccggcgccGggtgctctgcagtttggcgc	3	8	17	13	4	1	1	0	1	1	0	2	2	2	1	3	4	2	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:151784197G>A	ENST00000255262.3	-	1	643	c.478C>T	c.(478-480)Cgg>Tgg	p.R160W	NMUR2_ENST00000518933.1_Intron	NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	160					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			GCCCGGCGCCGGGTGCTCTGC	0.632													A	151784197	G	A	151784197	3	1	364	1	0	0	0	0	1	0	0	0	10583	1115	39	1	785	1	NMUR2	5	151784197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	604324	151784197	29131063	4879	28381											
FAM114A2	10827	broad.mit.edu	37	chr5	153406011	153406011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgctagagaaaatgtttcTttgagttgctctaattcaac	11	16	7	7	0	4	2	1	1	3	1	4	3	4	2	0	0	3	4	0	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153406011T>A	ENST00000351797.4	-	8	937	c.861A>T	c.(859-861)aaA>aaT	p.K287N	FAM114A2_ENST00000520313.1_Missense_Mutation_p.K217N|FAM114A2_ENST00000520667.1_Missense_Mutation_p.K287N|FAM114A2_ENST00000522858.1_Missense_Mutation_p.K287N	NM_018691.2	NP_061161.2	Q9NRY5	F1142_HUMAN	family with sequence similarity 114, member A2	287							purine nucleotide binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|skin(1)|urinary_tract(1)	18						AAAATGTTTCTTTGAGTTGCT	0.333													A	153406011	T	A	153406011	3	1	364	1	0	0	0	0	1	0	0	0	5449	1606	56	5	684	5	FAM114A2	5	153406011	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1621814	153406011	27509249	4880	28382											
MFAP3	4238	broad.mit.edu	37	chr5	153432912	153432912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagtgtccctcttccacCtcttattctaaactgtcgag	10	13	6	12	1	3	1	0	0	3	1	6	2	5	1	3	0	1	0	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153432912C>A	ENST00000436816.1	+	3	947	c.728C>A	c.(727-729)cCt>cAt	p.P243H	MFAP3_ENST00000322602.5_Missense_Mutation_p.P243H|MFAP3_ENST00000439768.2_Missense_Mutation_p.P97H	NM_001242336.1|NM_005927.4	NP_001229265.1|NP_005918.1	P55082	MFAP3_HUMAN	microfibrillar-associated protein 3	243						integral to membrane|plasma membrane				breast(1)|kidney(2)|large_intestine(1)|lung(2)|pancreas(1)	7	Renal(175;0.00488)	Lung NSC(249;0.00145)|all_lung(500;0.00226)|all_neural(177;0.122)|Breast(839;0.14)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)	OV - Ovarian serous cystadenocarcinoma(192;9.69e-06)|GBM - Glioblastoma multiforme(465;0.0201)		CCTCTTCCACCTCTTATTCTA	0.473													A	153432912	C	A	153432912	3	1	364	1	0	0	0	0	1	0	0	0	9590	681	24	4	734	4	MFAP3	5	153432912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26901	153432912	27482348	4881	28383											
GALNT10	55568	broad.mit.edu	37	chr5	153795489	153795489	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagctgtggaaataccgCaaagtaagatgggatgcggg	14	6	14	7	2	0	1	0	0	0	1	0	3	0	3	2	3	4	3	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:153795489C>T	ENST00000297107.6	+	11	1787	c.1650C>T	c.(1648-1650)cgC>cgT	p.R550R	GALNT10_ENST00000377661.2_Silent_p.R488R|GALNT10_ENST00000377657.3_Silent_p.R223R|SAP30L-AS1_ENST00000524264.1_RNA|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	550	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			GGAAATACCGCAAAGTAAGAT	0.502													T	153795489	C	T	153795489	2	4	364	1	0	0	0	0	0	0	0	1	6262	697	25	2		2	GALNT10	5	153795489	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	362577	153795489	27119771	4882	28384											
LARP1	23367	broad.mit.edu	37	chr5	154172182	154172182	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactttacttcctgctatagCcacagtcccacaagcctcag	10	11	5	15	0	1	0	1	0	0	0	3	0	3	0	4	0	5	1	4	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154172182C>T	ENST00000336314.4	+	4	358	c.334C>T	c.(334-336)Cca>Tca	p.P112S		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	189							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCTGCTATAGCCACAGTCCCA	0.522													T	154172182	C	T	154172182	5	4	364	1	0	0	0	0	0	0	1	0	8687	753	26	2	348	2	LARP1	5	154172182	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	376693	154172182	26743078	4883	28385											
CNOT8	9337	broad.mit.edu	37	chr5	154250245	154250245	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgtactcccaggattcCatagatctccttgctaactc	10	12	6	13	0	1	1	0	0	1	1	5	3	3	2	3	1	3	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250245C>A	ENST00000517876.1	+	5	812	c.336C>A	c.(334-336)tcC>tcA	p.S112S	CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000523698.1_Silent_p.S6S|CNOT8_ENST00000521450.1_Silent_p.S6S|CNOT8_ENST00000403027.2_Silent_p.S112S|CNOT8_ENST00000285896.6_Silent_p.S112S|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Silent_p.S6S|CNOT8_ENST00000520671.1_Silent_p.S6S			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	112					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCCAGGATTCCATAGATCTCC	0.423													A	154250245	C	A	154250245	2	1	364	1	0	0	0	0	0	0	0	1	3656	581	21	4		4	CNOT8	5	154250245	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78063	154250245	26665015	4884	28386											
CNOT8	9337	broad.mit.edu	37	chr5	154250340	154250340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagctgcttatgacatcagGagtggttctctgtgacaatg	10	12	12	7	0	2	3	1	2	1	1	3	4	2	4	0	2	2	3	0	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154250340G>A	ENST00000517876.1	+	5	907	c.431G>A	c.(430-432)gGa>gAa	p.G144E	CNOT8_ENST00000519404.1_Intron|CNOT8_ENST00000523698.1_Missense_Mutation_p.G38E|CNOT8_ENST00000521450.1_Missense_Mutation_p.G38E|CNOT8_ENST00000403027.2_Missense_Mutation_p.G144E|CNOT8_ENST00000285896.6_Missense_Mutation_p.G144E|CNOT8_ENST00000524105.1_Intron|CNOT8_ENST00000521583.1_Missense_Mutation_p.G38E|CNOT8_ENST00000520671.1_Missense_Mutation_p.G38E			Q9UFF9	CNOT8_HUMAN	CCR4-NOT transcription complex, subunit 8	144					negative regulation of cell proliferation|nuclear-transcribed mRNA poly(A) tail shortening	cytosol|nucleus	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATGACATCAGGAGTGGTTCTC	0.443													A	154250340	G	A	154250340	3	1	364	1	0	0	0	0	1	0	0	0	3656	1174	41	2	441	2	CNOT8	5	154250340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	154250340	26664920	4885	28387											
KIF4B	285643	broad.mit.edu	37	chr5	154394629	154394629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagaatgaaaaattaagtCgttgtctgagcaaggcagct	15	9	12	5	1	1	3	0	2	1	1	2	4	1	3	0	2	2	4	0	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:154394629C>T	ENST00000435029.4	+	1	1370	c.1210C>T	c.(1210-1212)Cgt>Tgt	p.R404C		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	404					axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.R404C(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			AAAATTAAGTCGTTGTCTGAG	0.453													T	154394629	C	T	154394629	3	4	364	1	0	0	0	0	1	0	0	0	8362	884	31	1	1212	1	KIF4B	5	154394629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144289	154394629	26520631	4886	28388											
SGCD	6444	broad.mit.edu	37	chr5	156186309	156186309	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaacgaggcagaaggtcTtcgagatctgcgtctgcgcc	9	7	14	11	4	3	2	0	0	3	2	4	5	3	3	1	3	3	1	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156186309T>G	ENST00000435422.3	+	8	1265	c.778T>G	c.(778-780)Ttc>Gtc	p.F260V	SGCD_ENST00000337851.4_Missense_Mutation_p.F261V	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	260					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GCAGAAGGTCTTCGAGATCTG	0.483													G	156186309	T	G	156186309	3	3	364	1	0	0	0	0	1	0	0	0	14294	1609	56	5	883	5	SGCD	5	156186309	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1791680	156186309	24728951	4887	28389											
HAVCR1	26762	broad.mit.edu	37	chr5	156479468	156479468	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttggaatgctcgttgTcgttggaacgctcgttgtcg	4	16	14	7	5	0	0	0	0	0	0	4	2	0	2	0	2	2	7	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156479468T>G	ENST00000339252.3	-	3	1109	c.577A>C	c.(577-579)Aca>Cca	p.T193P	HAVCR1_ENST00000523175.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000522693.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T193P|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T193P	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	188	11 X 6 AA approximate tandem repeats of V-P-T-T-T-T].|Thr-rich.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGCTCGTTGTCGTTGGAACG	0.468													G	156479468	T	G	156479468	3	3	364	1	0	0	0	0	1	0	0	0	7028	1667	58	5	541	5	HAVCR1	5	156479468	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	293159	156479468	24435792	4888	28390											
MED7	9443	broad.mit.edu	37	chr5	156565837	156565837	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaattttctctttgatgTtcattctgtccagtacaatt	8	19	5	9	0	3	2	1	2	2	0	5	2	4	2	2	0	1	2	2	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156565837T>C	ENST00000286317.5	-	2	987	c.606A>G	c.(604-606)gaA>gaG	p.E202E	MED7_ENST00000420343.1_Silent_p.E202E	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	202					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTCTTTGATGTTCATTCTGTC	0.383													C	156565837	T	C	156565837	2	2	364	1	0	0	0	0	0	0	0	1	9527	1722	60	3		3	MED7	5	156565837	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86369	156565837	24349423	4889	28391											
FAM71B	153745	broad.mit.edu	37	chr5	156589936	156589936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgactttcacctgccttgCggtgatgagaacttttccta	7	14	10	10	1	1	3	1	3	0	1	2	4	2	3	3	2	3	0	3	2	2	5	rs144873852	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589936C>T	ENST00000302938.4	-	2	1435	c.1340G>A	c.(1339-1341)cGc>cAc	p.R447H		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	447						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACCTGCCTTGCGGTGATGAGA	0.498													T	156589936	C	T	156589936	3	4	364	1	0	0	0	0	1	0	0	0	5658	768	27	1	481	1	FAM71B	5	156589936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24099	156589936	24325324	4890	28392											
FAM71B	153745	broad.mit.edu	37	chr5	156589951	156589951	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttgcggtgatgagaacttTtcctactgggatgtctgtcc	6	14	11	10	1	1	2	0	2	1	1	3	4	3	3	3	2	3	0	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156589951T>G	ENST00000302938.4	-	2	1420	c.1325A>C	c.(1324-1326)aAa>aCa	p.K442T		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	442						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ATGAGAACTTTTCCTACTGGG	0.502													G	156589951	T	G	156589951	3	3	364	1	0	0	0	0	1	0	0	0	5658	1841	64	5	496	5	FAM71B	5	156589951	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15	156589951	24325309	4891	28393											
ITK	3702	broad.mit.edu	37	chr5	156641241	156641241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgcctaaatatcatcCtaatttctggatggatggga	10	15	10	6	0	2	0	1	0	1	0	3	3	3	3	2	4	1	0	2	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156641241C>A	ENST00000422843.3	+	4	517	c.365C>A	c.(364-366)cCt>cAt	p.P122H	CTB-4E7.1_ENST00000519375.1_RNA	NM_005546.3	NP_005537.3	Q08881	ITK_HUMAN	IL2-inducible T-cell kinase	122					cellular defense response|intracellular signal transduction|T cell receptor signaling pathway	cytosol|plasma membrane	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(25)|ovary(8)|prostate(2)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	70	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.1)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAATATCATCCTAATTTCTGG	0.448			T	SYK	peripheral T-cell lymphoma								A	156641241	C	A	156641241	3	1	364	1	0	0	0	0	1	0	0	0	7967	681	24	4	379	4	ITK	5	156641241	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51290	156641241	24274019	4892	28394											
CYFIP2	26999	broad.mit.edu	37	chr5	156727724	156727724	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcccctctgcccccagcGcaaggccatcgagcggttct	6	7	10	18	3	2	0	0	0	2	0	3	1	2	0	5	2	4	2	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156727724G>A	ENST00000347377.6	+	6	820	c.389G>A	c.(388-390)cGc>cAc	p.R130H	CYFIP2_ENST00000521420.1_Splice_Site_p.R104H|CYFIP2_ENST00000377576.3_Splice_Site_p.R130H|CYFIP2_ENST00000318218.6_Splice_Site_p.R130H|CYFIP2_ENST00000522463.1_Intron|CYFIP2_ENST00000541131.1_Splice_Site_p.R55H|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	130					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCCCCAGCGCAAGGCCATC	0.642													A	156727724	G	A	156727724	5	1	364	1	0	0	0	0	0	0	1	0	4171	1101	38	1	407	1	CYFIP2	5	156727724	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86483	156727724	24187536	4893	28395											
CYFIP2	26999	broad.mit.edu	37	chr5	156746812	156746812	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtgctcatgggcaggAtggagagcgtcttcaaccag	9	8	15	9	1	3	1	2	0	1	1	3	3	3	2	1	4	4	3	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156746812A>G	ENST00000347377.6	+	14	1830	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	CYFIP2_ENST00000521420.1_Missense_Mutation_p.M441V|CYFIP2_ENST00000377576.3_Missense_Mutation_p.M467V|CYFIP2_ENST00000318218.6_Missense_Mutation_p.M467V|CYFIP2_ENST00000522463.1_Missense_Mutation_p.M271V|CYFIP2_ENST00000541131.1_Missense_Mutation_p.M392V|CYFIP2_ENST00000435847.2_Missense_Mutation_p.M141V|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	467					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CATGGGCAGGATGGAGAGCGT	0.607													G	156746812	A	G	156746812	3	3	364	1	0	0	0	0	1	0	0	0	4171	333	12	3	1449	3	CYFIP2	5	156746812	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19088	156746812	24168448	4894	28396											
CYFIP2	26999	broad.mit.edu	37	chr5	156750996	156750996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggctccaagaagaccctgaGgagcagcctggatggaccca	11	4	13	13	1	0	3	0	1	0	2	1	6	1	6	4	4	2	2	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156750996G>T	ENST00000347377.6	+	16	2170	c.1739G>T	c.(1738-1740)aGg>aTg	p.R580M	CYFIP2_ENST00000521420.1_Missense_Mutation_p.R554M|CYFIP2_ENST00000377576.3_Missense_Mutation_p.R580M|CYFIP2_ENST00000318218.6_Missense_Mutation_p.R605M|CYFIP2_ENST00000520960.1_3'UTR|CYFIP2_ENST00000522463.1_Missense_Mutation_p.R384M|CYFIP2_ENST00000541131.1_Missense_Mutation_p.R505M|CYFIP2_ENST00000435847.2_Missense_Mutation_p.R279M|CYFIP2_ENST00000442283.2_5'UTR	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	605					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AAGACCCTGAGGAGCAGCCTG	0.493													T	156750996	G	T	156750996	3	4	364	1	0	0	0	0	1	0	0	0	4171	1000	35	4	1797	4	CYFIP2	5	156750996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4184	156750996	24164264	4895	28397											
CYFIP2	26999	broad.mit.edu	37	chr5	156757835	156757835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaatcgctatgaaacaCtgctgaagcagagacacgtc	13	7	9	12	3	0	3	0	2	0	1	3	4	1	3	1	0	3	3	1	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156757835C>T	ENST00000347377.6	+	20	2673	c.2242C>T	c.(2242-2244)Ctg>Ttg	p.L748L	CYFIP2_ENST00000521420.1_Silent_p.L722L|CYFIP2_ENST00000377576.3_Silent_p.L748L|CYFIP2_ENST00000318218.6_Silent_p.L773L|CYFIP2_ENST00000522463.1_Silent_p.L552L|CYFIP2_ENST00000541131.1_Silent_p.L673L|CYFIP2_ENST00000435847.2_Silent_p.L447L|CYFIP2_ENST00000442283.2_Silent_p.L33L	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	773					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATGAAACACTGCTGAAGCA	0.483													T	156757835	C	T	156757835	2	4	364	1	0	0	0	0	0	0	0	1	4171	564	20	2		2	CYFIP2	5	156757835	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6839	156757835	24157425	4896	28398											
ADAM19	8728	broad.mit.edu	37	chr5	156915368	156915368	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatttgagacccgggccctgGggagttcctagcagccctgc	6	9	13	13	1	0	1	0	1	0	1	1	3	1	2	4	3	3	2	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156915368G>T	ENST00000257527.4	-	21	2533	c.2455C>A	c.(2455-2457)Cca>Aca	p.P819T	ADAM19_ENST00000517905.1_Missense_Mutation_p.P819T|ADAM19_ENST00000394020.1_Missense_Mutation_p.P821T|ADAM19_ENST00000430702.2_Missense_Mutation_p.P552T	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	819					proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCGGGCCCTGGGGAGTTCCTA	0.647													T	156915368	G	T	156915368	3	4	364	1	0	0	0	0	1	0	0	0	240	1232	43	4	313	4	ADAM19	5	156915368	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157533	156915368	23999892	4897	28399											
ADAM19	8728	broad.mit.edu	37	chr5	156940493	156940493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtgtttggtggcgtcctgGtctcgtcgattcttctgaaa	4	17	12	8	3	3	1	0	1	3	0	6	2	4	1	1	3	0	1	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:156940493G>A	ENST00000257527.4	-	8	765	c.687C>T	c.(685-687)gaC>gaT	p.D229D	ADAM19_ENST00000517905.1_Silent_p.D229D|ADAM19_ENST00000394020.1_Silent_p.D231D|ADAM19_ENST00000430702.2_5'UTR	NM_033274.3	NP_150377.1	Q9H013	ADA19_HUMAN	ADAM metallopeptidase domain 19	229	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Renal(175;0.00488)	Medulloblastoma(196;0.0359)|all_neural(177;0.14)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGGCGTCCTGGTCTCGTCGAT	0.493													A	156940493	G	A	156940493	2	1	364	1	0	0	0	0	0	0	0	1	240	1252	44	2		2	ADAM19	5	156940493	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25125	156940493	23974767	4898	28400											
THG1L	54974	broad.mit.edu	37	chr5	157159948	157159948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgaccaaatgtgcgcaGactgtgatggaagaactaga	14	8	12	7	1	0	6	0	3	0	3	0	7	0	7	1	1	2	1	1	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157159948G>T	ENST00000231198.7	+	2	508	c.264G>T	c.(262-264)caG>caT	p.Q88H		NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	88					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AATGTGCGCAGACTGTGATGG	0.453													T	157159948	G	T	157159948	3	4	364	1	0	0	0	0	1	0	0	0	15961	933	33	4	270	4	THG1L	5	157159948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	219455	157159948	23755312	4899	28401											
THG1L	54974	broad.mit.edu	37	chr5	157161716	157161716	+	Missense_Mutation	SNP	G	G	T																															gtggtgtatcccagcaaccaGactttaaaggactacctcag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161716G>T	ENST00000231198.7	+	3	745	c.501G>T	c.(499-501)caG>caT	p.Q167H	AC026407.1_ENST00000599823.1_Silent_p.V4V	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	167					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CCAGCAACCAGACTTTAAAGG	0.478													T	157161716	G	T	157161716	3	4	364	1	0	0	0	0	1	0	0	0	15961	933	33	4	511	4	THG1L	5	157161716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1768	157161716	23753544	4900	28402	64	2									
THG1L	54974	broad.mit.edu	37	chr5	157161725	157161725	+	Missense_Mutation	SNP	G	G	T																															cccagcaaccagactttaaaGgactacctcagctggcgaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157161725G>T	ENST00000231198.7	+	3	754	c.510G>T	c.(508-510)aaG>aaT	p.K170N	AC026407.1_ENST00000599823.1_Silent_p.S1S	NM_017872.3	NP_060342.2	Q9NWX6	THG1_HUMAN	tRNA-histidine guanylyltransferase 1-like (S. cerevisiae)	170					protein homotetramerization|tRNA modification	mitochondrion	GTP binding|metal ion binding|tRNA guanylyltransferase activity			NS(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)|skin(1)	13	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGACTTTAAAGGACTACCTCA	0.468													T	157161725	G	T	157161725	3	4	364	1	0	0	0	0	1	0	0	0	15961	991	35	4	520	4	THG1L	5	157161725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	157161725	23753535	4901	28403	64	2									
LSM11	134353	broad.mit.edu	37	chr5	157181872	157181872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctttatagctatttgatcGgctgaaacttcaagattcct	10	16	7	8	1	1	3	1	2	0	1	3	3	2	3	1	1	3	3	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:157181872G>A	ENST00000286307.5	+	4	739	c.683G>A	c.(682-684)cGg>cAg	p.R228Q		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	228					histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTATTTGATCGGCTGAAACTT	0.368													A	157181872	G	A	157181872	3	1	364	1	0	0	0	0	1	0	0	0	9122	1116	39	1	697	1	LSM11	5	157181872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20147	157181872	23733388	4902	28404											
EBF1	1879	broad.mit.edu	37	chr5	158158077	158158077	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaaggcagtatcctcacCtttggcaaacgctcagggtc	12	8	9	12	1	2	0	2	0	0	0	4	0	3	0	2	3	1	4	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158158077C>A	ENST00000313708.6	-	11	1407	c.1125G>T	c.(1123-1125)aaG>aaT	p.K375N	EBF1_ENST00000380654.4_Splice_Site_p.K344N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000517373.1_Splice_Site_p.K367N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	375					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTATCCTCACCTTTGGCAAAC	0.443			T	HMGA2	lipoma								A	158158077	C	A	158158077	5	1	364	1	0	0	0	0	0	0	1	0	4919	695	24	4	674	4	EBF1	5	158158077	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	976205	158158077	22757183	4903	28405											
RNF145	153830	broad.mit.edu	37	chr5	158585820	158585820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtatcctggtccctggaGtatgctcctggcctgggggt	3	12	14	12	0	0	0	0	0	0	0	3	1	3	1	5	5	1	3	5	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158585820G>T	ENST00000424310.2	-	11	2209	c.1850C>A	c.(1849-1851)aCt>aAt	p.T617N	RNF145_ENST00000520638.1_Missense_Mutation_p.T631N|RNF145_ENST00000518802.1_Missense_Mutation_p.T647N|RNF145_ENST00000518284.1_5'UTR|RNF145_ENST00000521606.2_Missense_Mutation_p.T634N|RNF145_ENST00000519865.1_Missense_Mutation_p.T617N|RNF145_ENST00000274542.2_Missense_Mutation_p.T645N	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	617						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTCCCTGGAGTATGCTCCTG	0.507													T	158585820	G	T	158585820	3	4	364	1	0	0	0	0	1	0	0	0	13538	1029	36	4	145	4	RNF145	5	158585820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	427743	158585820	22329440	4904	28406											
RNF145	153830	broad.mit.edu	37	chr5	158596065	158596066	+	Splice_Site	INS	-	-	A																															actccttctgtcatgcccctINSaaaaaaagcatacattttca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158596065_158596066insA	ENST00000424310.2	-	8	1298		c.e8-2		RNF145_ENST00000274542.2_Splice_Site|RNF145_ENST00000520638.1_Splice_Site|RNF145_ENST00000519865.1_Splice_Site|RNF145_ENST00000518802.1_Splice_Site|RNF145_ENST00000521606.2_Splice_Site	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145							integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTCATGCCCCTAAAAAAAGCAT	0.361													A	158596066	-	A	158596065	8	5	364	1	0	1	1	0	0	0	1	0	13538	1536	53	0	1070	0	RNF145	5	158596065	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	10245	158596065	22319195	4905	28407											
RNF145	153830	broad.mit.edu	37	chr5	158601151	158601151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcccaaggcgagaaggcCatatacctccactacctaaa	14	7	6	14	1	0	1	0	0	0	1	2	2	2	1	5	2	2	0	5	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158601151C>T	ENST00000424310.2	-	6	996	c.637G>A	c.(637-639)Ggc>Agc	p.G213S	RNF145_ENST00000520638.1_Missense_Mutation_p.G227S|RNF145_ENST00000518802.1_Missense_Mutation_p.G243S|RNF145_ENST00000521606.2_Missense_Mutation_p.G230S|RNF145_ENST00000519865.1_Missense_Mutation_p.G213S|RNF145_ENST00000274542.2_Missense_Mutation_p.G241S	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	213						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCGAGAAGGCCATATACCTCC	0.383													T	158601151	C	T	158601151	3	4	364	1	0	0	0	0	1	0	0	0	13538	594	21	2	1378	2	RNF145	5	158601151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5086	158601151	22314109	4906	28408											
UBLCP1	134510	broad.mit.edu	37	chr5	158696048	158696048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggagttcttccagaacGccaaaagttacttggactca	13	10	8	10	1	2	1	1	0	1	1	3	3	3	3	2	2	3	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158696048G>A	ENST00000296786.6	+	2	451	c.125G>A	c.(124-126)cGc>cAc	p.R42H		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	42	Ubiquitin-like.					nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTCCAGAACGCCAAAAGTTA	0.363													A	158696048	G	A	158696048	3	1	364	1	0	0	0	0	1	0	0	0	16993	1087	38	1	127	1	UBLCP1	5	158696048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94897	158696048	22219212	4907	28409											
IL12B	3593	broad.mit.edu	37	chr5	158753738	158753738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatatggccacgaggggaGatgccagaaaaaccagggaa	15	3	13	10	1	0	2	0	0	0	2	0	5	0	3	4	4	2	0	4	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:158753738G>T	ENST00000231228.2	-	2	508	c.53C>A	c.(52-54)tCt>tAt	p.S18Y		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	18					cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CACGAGGGGAGATGCCAGAAA	0.507													T	158753738	G	T	158753738	3	4	364	1	0	0	0	0	1	0	0	0	7683	942	33	4	957	4	IL12B	5	158753738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57690	158753738	22161522	4908	28410											
ADRA1B	147	broad.mit.edu	37	chr5	159344282	159344282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgacatctgggcagccGtggatgtcctgtgctgcaca	6	11	13	11	1	2	1	0	1	2	0	3	2	3	2	2	2	3	3	2	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159344282G>A	ENST00000306675.3	+	1	493	c.370G>A	c.(370-372)Gtg>Atg	p.V124M		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	124					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	CTGGGCAGCCGTGGATGTCCT	0.617													A	159344282	G	A	159344282	3	1	364	1	0	0	0	0	1	0	0	0	335	1145	40	1	372	1	ADRA1B	5	159344282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	590544	159344282	21570978	4909	28411											
PWWP2A	114825	broad.mit.edu	37	chr5	159545952	159545952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgacaccgtggagtccccGcccgccggcggcacgagcgc	5	3	15	18	8	0	0	0	0	0	0	1	3	1	1	5	3	2	1	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159545952G>A	ENST00000456329.3	-	1	478	c.444C>T	c.(442-444)ggC>ggT	p.G148G	PWWP2A_ENST00000523662.1_Silent_p.G148G|PWWP2A_ENST00000307063.7_Silent_p.G148G	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	148										kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGTCCCCGCCCGCCGGCG	0.731													A	159545952	G	A	159545952	2	1	364	1	0	0	0	0	0	0	0	1	12933	1074	38	1		1	PWWP2A	5	159545952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201670	159545952	21369308	4910	28412											
C5orf54	63920	broad.mit.edu	37	chr5	159821798	159821798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagagccacatacatcaaGtgctatcttatgcttcagaa	15	10	6	10	0	3	2	2	0	1	2	3	2	3	2	1	0	5	2	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159821798G>T	ENST00000408953.3	-	2	1207	c.700C>A	c.(700-702)Ctt>Att	p.L234I	C5orf54_ENST00000523213.1_Missense_Mutation_p.L234I	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	234										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						catacatcaagtgctatctta	0.403													T	159821798	G	T	159821798	3	4	364	1	0	0	0	0	1	0	0	0	2332	1029	36	4	1088	4	C5orf54	5	159821798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275846	159821798	21093462	4911	28413											
C5orf54	63920	broad.mit.edu	37	chr5	159822439	159822439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgagttccatctacttccGttgtacaggtgaaccagtag	9	12	10	10	1	1	2	0	2	1	0	3	2	3	2	3	1	3	5	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159822439G>A	ENST00000408953.3	-	2	566	c.59C>T	c.(58-60)aCg>aTg	p.T20M	C5orf54_ENST00000523213.1_Missense_Mutation_p.T20M	NM_022090.3	NP_071373.2	Q8IZ13	CE054_HUMAN	chromosome 5 open reading frame 54	20										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	12						atctacttccgttgtacaggt	0.433													A	159822439	G	A	159822439	3	1	364	1	0	0	0	0	1	0	0	0	2332	1145	40	1	1729	1	C5orf54	5	159822439	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	641	159822439	21092821	4912	28414											
PTTG1	9232	broad.mit.edu	37	chr5	159849771	159849771	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaccacgttttggcaaaacGttcgatgccccaccagcctt	10	9	7	15	3	0	0	0	0	0	0	1	1	0	0	5	1	3	3	5	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:159849771G>C	ENST00000393964.1	+	2	550	c.147G>C	c.(145-147)acG>acC	p.T49T	PTTG1_ENST00000520452.1_Silent_p.T49T|PTTG1_ENST00000519287.1_3'UTR|PTTG1_ENST00000352433.5_Silent_p.T49T	NM_001282382.1	NP_001269311.1	O95997	PTTG1_HUMAN	pituitary tumor-transforming 1	49					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|chromosome organization|chromosome segregation|DNA repair|mitosis|spermatogenesis|transcription from RNA polymerase II promoter	cytosol|nucleus	cysteine-type endopeptidase inhibitor activity|sequence-specific DNA binding transcription factor activity|SH3 domain binding			breast(1)|large_intestine(1)|lung(4)	6	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.00219)|Epithelial(171;0.00348)|all cancers(165;0.0104)		TTGGCAAAACGTTCGATGCCC	0.433													C	159849771	G	C	159849771	2	2	364	1	0	0	0	0	0	0	0	1	12907	1132	40	4		4	PTTG1	5	159849771	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27332	159849771	21065489	4913	28415											
ATP10B	23120	broad.mit.edu	37	chr5	160033805	160033805	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgacgcgcaacttgtctcGcaccagcttgactatcatac	10	10	7	14	3	2	2	1	2	1	0	3	2	2	2	1	0	3	3	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160033805G>A	ENST00000327245.5	-	19	3973	c.3127C>T	c.(3127-3129)Cga>Tga	p.R1043*		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	1043					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACTTGTCTCGCACCAGCTTG	0.522													A	160033805	G	A	160033805	4	1	364	1	0	0	0	0	0	1	0	0	1122	1095	38	1	1290	1	ATP10B	5	160033805	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184034	160033805	20881455	4914	28416											
ATP10B	23120	broad.mit.edu	37	chr5	160047762	160047762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtggagtcacctccacTgcacacagatgcatcatctc	11	9	7	14	0	4	1	3	0	1	1	6	2	5	2	2	1	2	2	2	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160047762T>C	ENST00000327245.5	-	15	2854	c.2008A>G	c.(2008-2010)Agt>Ggt	p.S670G	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	670					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCACCTCCACTGCACACAGAT	0.582													C	160047762	T	C	160047762	3	2	364	1	0	0	0	0	1	0	0	0	1122	1580	55	3	2425	3	ATP10B	5	160047762	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13957	160047762	20867498	4915	28417											
ATP10B	23120	broad.mit.edu	37	chr5	160076222	160076222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgttgggtttctcacaCacgatggtattgtggaaaag	9	14	13	5	1	1	0	1	0	1	0	2	2	1	1	0	4	0	4	0	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160076222C>T	ENST00000327245.5	-	8	1563	c.717G>A	c.(715-717)gtG>gtA	p.V239V		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	239					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GTTTCTCACACACGATGGTAT	0.403													T	160076222	C	T	160076222	2	4	364	1	0	0	0	0	0	0	0	1	1122	465	17	2		2	ATP10B	5	160076222	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28460	160076222	20839038	4916	28418											
GABRB2	2561	broad.mit.edu	37	chr5	160721284	160721284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcggccaaaactatgcCtgggcaacccagctttccga	10	9	8	14	2	0	0	0	0	0	0	2	1	1	0	4	2	4	2	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160721284C>A	ENST00000274547.2	-	11	1560	c.1343G>T	c.(1342-1344)aGg>aTg	p.R448M	GABRB2_ENST00000353437.6_Missense_Mutation_p.R410M|GABRB2_ENST00000393959.1_Missense_Mutation_p.R448M|GABRB2_ENST00000517547.1_Missense_Mutation_p.R250M|GABRB2_ENST00000517901.1_Missense_Mutation_p.R347M|GABRB2_ENST00000520240.1_Missense_Mutation_p.R410M	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	448					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	AAAACTATGCCTGGGCAACCC	0.537													A	160721284	C	A	160721284	3	1	364	1	0	0	0	0	1	0	0	0	6219	681	24	4	199	4	GABRB2	5	160721284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	645062	160721284	20193976	4917	28419											
GABRB2	2561	broad.mit.edu	37	chr5	160763653	160763653	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaacctgtggaaaaaacaAccttcttggtgataagtttg	15	11	8	7	0	1	1	0	1	1	0	1	2	1	2	2	2	3	1	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:160763653A>G	ENST00000274547.2	-	7	882	c.665T>C	c.(664-666)gTt>gCt	p.V222A	GABRB2_ENST00000353437.6_Missense_Mutation_p.V222A|GABRB2_ENST00000393959.1_Missense_Mutation_p.V222A|GABRB2_ENST00000517547.1_Missense_Mutation_p.V62A|GABRB2_ENST00000517901.1_Missense_Mutation_p.V159A|GABRB2_ENST00000520240.1_Missense_Mutation_p.V222A	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	222					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GGAAAAAACAACCTTCTTGGT	0.358													G	160763653	A	G	160763653	3	3	364	1	0	0	0	0	1	0	0	0	6219	43	2	3	893	3	GABRB2	5	160763653	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42369	160763653	20151607	4918	28420											
GABRA6	2559	broad.mit.edu	37	chr5	161119197	161119197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaacctttggaagctgaGattgttttggtaattgttta	10	17	10	4	0	0	2	0	2	0	1	0	4	0	3	1	2	2	4	1	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161119197G>T	ENST00000523217.1	+	8	1289	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	GABRA6_ENST00000274545.5_Missense_Mutation_p.E359D	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	359					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TGGAAGCTGAGATTGTTTTGG	0.398										TCGA Ovarian(5;0.080)			T	161119197	G	T	161119197	3	4	364	1	0	0	0	0	1	0	0	0	6217	933	33	4	1107	4	GABRA6	5	161119197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	355544	161119197	19796063	4919	28421											
GABRA1	2554	broad.mit.edu	37	chr5	161317903	161317903	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtgttttacttctcaGgagaatatgttgttatgacc	8	18	9	6	0	1	2	1	1	1	1	2	3	1	2	1	1	1	3	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161317903G>A	ENST00000428797.2	+	9	1058		c.e9-1		GABRA1_ENST00000393943.4_Splice_Site|GABRA1_ENST00000444819.1_Splice_Site|GABRA1_ENST00000437025.2_Splice_Site|GABRA1_ENST00000023897.6_Splice_Site|GABRA1_ENST00000420560.1_Splice_Site	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TTACTTCTCAGGAGAATATGT	0.363													A	161317903	G	A	161317903	5	1	364	1	0	0	0	0	0	0	1	0	6212	1014	35	2	729	2	GABRA1	5	161317903	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198706	161317903	19597357	4920	28422											
GABRA1	2554	broad.mit.edu	37	chr5	161322744	161322744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccctaaggtggcttatgCaacagctatggattggttta	9	13	10	9	0	0	0	0	0	0	0	1	1	1	1	2	4	3	4	2	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161322744C>T	ENST00000428797.2	+	10	1284	c.929C>T	c.(928-930)gCa>gTa	p.A310V	GABRA1_ENST00000393943.4_Missense_Mutation_p.A310V|GABRA1_ENST00000444819.1_Missense_Mutation_p.A310V|GABRA1_ENST00000437025.2_Missense_Mutation_p.A310V|GABRA1_ENST00000023897.6_Missense_Mutation_p.A310V|GABRA1_ENST00000420560.1_Missense_Mutation_p.A310V	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	310					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	GTGGCTTATGCAACAGCTATG	0.413													T	161322744	C	T	161322744	3	4	364	1	0	0	0	0	1	0	0	0	6212	710	25	2	959	2	GABRA1	5	161322744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4841	161322744	19592516	4921	28423											
GABRA1	2554	broad.mit.edu	37	chr5	161324157	161324157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttattaagaaaaacaacaCttacgctccaacagcaacca	18	8	3	12	1	1	1	0	0	1	1	2	1	2	1	2	0	6	2	2	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324157C>A	ENST00000428797.2	+	11	1455	c.1100C>A	c.(1099-1101)aCt>aAt	p.T367N	GABRA1_ENST00000393943.4_Missense_Mutation_p.T367N|GABRA1_ENST00000444819.1_Missense_Mutation_p.T367N|GABRA1_ENST00000437025.2_Missense_Mutation_p.T367N|GABRA1_ENST00000023897.6_Missense_Mutation_p.T367N|GABRA1_ENST00000420560.1_Missense_Mutation_p.T367N	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	367					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	AAAAACAACACTTACGCTCCA	0.418													A	161324157	C	A	161324157	3	1	364	1	0	0	0	0	1	0	0	0	6212	565	20	4	1134	4	GABRA1	5	161324157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1413	161324157	19591103	4922	28424											
GABRA1	2554	broad.mit.edu	37	chr5	161324243	161324243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctaaaagtgcaaccataGaacctaaagaggtcaagccc	16	7	8	10	0	1	2	1	0	0	2	1	2	1	2	3	1	5	2	3	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161324243G>A	ENST00000428797.2	+	11	1541	c.1186G>A	c.(1186-1188)Gaa>Aaa	p.E396K	GABRA1_ENST00000393943.4_Missense_Mutation_p.E396K|GABRA1_ENST00000444819.1_Missense_Mutation_p.E396K|GABRA1_ENST00000437025.2_Missense_Mutation_p.E396K|GABRA1_ENST00000023897.6_Missense_Mutation_p.E396K|GABRA1_ENST00000420560.1_Missense_Mutation_p.E396K	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	396					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	TGCAACCATAGAACCTAAAGA	0.478													A	161324243	G	A	161324243	3	1	364	1	0	0	0	0	1	0	0	0	6212	943	33	2	1220	2	GABRA1	5	161324243	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86	161324243	19591017	4923	28425											
GABRG2	2566	broad.mit.edu	37	chr5	161569262	161569262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgcacactcattgtcGtcctatcctgggtgtctttc	4	15	7	15	1	2	0	1	0	1	0	7	0	5	0	4	1	1	1	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:161569262G>A	ENST00000356592.3	+	7	1322	c.862G>A	c.(862-864)Gtc>Atc	p.V288I	GABRG2_ENST00000393933.4_Missense_Mutation_p.V193I|GABRG2_ENST00000414552.2_Missense_Mutation_p.V328I|GABRG2_ENST00000361925.4_Missense_Mutation_p.V288I	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	288					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		ACTCATTGTCGTCCTATCCTG	0.433													A	161569262	G	A	161569262	3	1	364	1	0	0	0	0	1	0	0	0	6224	1145	40	1	1012	1	GABRG2	5	161569262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245019	161569262	19345998	4924	28426											
WWC1	23286	broad.mit.edu	37	chr5	167836972	167836972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagagaaggtcagattgCgccttcgatatgaagaggct	11	9	14	7	2	1	4	1	1	0	3	2	6	1	4	1	3	1	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167836972C>T	ENST00000265293.4	+	8	1415	c.913C>T	c.(913-915)Cgc>Tgc	p.R305C	WWC1_ENST00000521089.1_Missense_Mutation_p.R305C	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	305					cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GGTCAGATTGCGCCTTCGATA	0.483													T	167836972	C	T	167836972	3	4	364	1	0	0	0	0	1	0	0	0	17513	768	27	1	943	1	WWC1	5	167836972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6267710	167836972	13078288	4925	28427											
WWC1	23286	broad.mit.edu	37	chr5	167891939	167891939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgaggacgagcgtttccGcctgctgctgaggatgctgg	5	9	17	10	4	0	2	0	2	0	0	1	5	1	4	2	3	4	4	2	3	0	1	rs145892564		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167891939G>A	ENST00000265293.4	+	21	3624	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	WWC1_ENST00000521089.1_Missense_Mutation_p.R1047H|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1041	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCGTTTCCGCCTGCTGCTG	0.647													A	167891939	G	A	167891939	3	1	364	1	0	0	0	0	1	0	0	0	17513	1087	38	1	3222	1	WWC1	5	167891939	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54967	167891939	13023321	4926	28428											
WWC1	23286	broad.mit.edu	37	chr5	167894882	167894882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaagggtgagcttcagaCagacaagatgatgagggcag	14	5	15	7	0	1	6	1	3	0	3	1	6	1	6	0	2	1	3	0	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167894882C>T	ENST00000265293.4	+	22	3690	c.3188C>T	c.(3187-3189)aCa>aTa	p.T1063I	WWC1_ENST00000521089.1_Missense_Mutation_p.T1069I|WWC1_ENST00000522140.1_3'UTR	NM_001161661.1|NM_001161662.1|NM_015238.2	NP_001155133.1|NP_001155134.1|NP_056053.1	Q8IX03	KIBRA_HUMAN	WW and C2 domain containing 1	1063	Interaction with histone H3.				cell migration|positive regulation of MAPKKK cascade|regulation of hippo signaling cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perinuclear region of cytoplasm|ruffle membrane	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(2)|prostate(1)|skin(4)	43	Renal(175;0.000212)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0399)|all_neural(177;0.0577)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0364)|Epithelial(171;0.0765)|OV - Ovarian serous cystadenocarcinoma(192;0.0918)		GAGCTTCAGACAGACAAGATG	0.587													T	167894882	C	T	167894882	3	4	364	1	0	0	0	0	1	0	0	0	17513	478	17	2	3292	2	WWC1	5	167894882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2943	167894882	13020378	4927	28429											
RARS	5917	broad.mit.edu	37	chr5	167919797	167919797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgctagtgacaccaaGtcagcaggccaagtttgggg	9	9	12	11	0	2	1	1	1	1	0	3	1	3	1	3	3	2	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:167919797G>A	ENST00000231572.3	+	3	368	c.314G>A	c.(313-315)aGt>aAt	p.S105N	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	105					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		GTGACACCAAGTCAGCAGGCC	0.398													A	167919797	G	A	167919797	3	1	364	1	0	0	0	0	1	0	0	0	13146	1029	36	2	324	2	RARS	5	167919797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24915	167919797	12995463	4928	28430											
SLIT3	6586	broad.mit.edu	37	chr5	168201248	168201248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagtgtactcacagtgtctgGatggactgcagaggggcgaa	10	8	15	8	1	2	1	1	0	1	1	2	4	2	3	0	4	2	2	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:168201248G>A	ENST00000519560.1	-	13	1706	c.1287C>T	c.(1285-1287)atC>atT	p.I429I	SLIT3_ENST00000404867.3_Silent_p.I429I|SLIT3_ENST00000332966.8_Silent_p.I429I	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	429					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ACAGTGTCTGGATGGACTGCA	0.557													A	168201248	G	A	168201248	2	1	364	1	0	0	0	0	0	0	0	1	14835	1164	41	2		2	SLIT3	5	168201248	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281451	168201248	12714012	4929	28431											
DOCK2	1794	broad.mit.edu	37	chr5	169141091	169141091	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccttccttcttatcgacaCcatgtggaaaacaagggggc	11	9	9	12	1	1	0	0	0	1	0	3	2	2	1	3	3	1	0	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169141091C>T	ENST00000256935.8	+	18	1799	c.1719C>T	c.(1717-1719)caC>caT	p.H573H	DOCK2_ENST00000520908.1_Silent_p.H65H|DOCK2_ENST00000540750.1_5'UTR	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	573	DHR-1.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTTATCGACACCATGTGGAAA	0.567													T	169141091	C	T	169141091	2	4	364	1	0	0	0	0	0	0	0	1	4726	506	18	2		2	DOCK2	5	169141091	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	939843	169141091	11774169	4930	28432											
FOXI1	2299	broad.mit.edu	37	chr5	169535395	169535395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacaccaggactgagccCtgagcccagtgacaagacgg	11	4	13	13	1	1	4	1	3	0	1	1	5	1	5	3	3	2	0	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169535395C>A	ENST00000449804.2	+	2	677	c.632C>A	c.(631-633)cCt>cAt	p.P211H	FOXI1_ENST00000306268.6_Missense_Mutation_p.P306H	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	306					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGACTGAGCCCTGAGCCCAGT	0.617									Pendred syndrome				A	169535395	C	A	169535395	3	1	364	1	0	0	0	0	1	0	0	0	6060	681	24	4	923	4	FOXI1	5	169535395	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	394304	169535395	11379865	4931	28433											
LCP2	3937	broad.mit.edu	37	chr5	169689860	169689860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaccttcccgctggaatCgagggctgcaagacaggagg	9	8	13	11	2	1	1	0	0	1	1	3	4	2	3	2	4	2	3	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169689860C>T	ENST00000046794.5	-	12	1419	c.804G>A	c.(802-804)tcG>tcA	p.S268S	LCP2_ENST00000521416.1_Silent_p.S63S	NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	268					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		CCGCTGGAATCGAGGGCTGCA	0.423													T	169689860	C	T	169689860	2	4	364	1	0	0	0	0	0	0	0	1	8751	871	31	1		1	LCP2	5	169689860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154465	169689860	11225400	4932	28434											
KCNMB1	3779	broad.mit.edu	37	chr5	169812421	169812421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggctcgtgtctctccccGcttctgggccatcaccagct	5	10	10	16	2	3	0	1	0	2	0	6	0	4	0	4	2	1	3	4	2	1	1	rs139716868	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:169812421G>A	ENST00000274629.4	-	2	473	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	KCNIP1_ENST00000377360.4_Intron|KCNMB1_ENST00000521859.1_Missense_Mutation_p.R11W|KCNIP1_ENST00000518527.1_Intron	NM_004137.3	NP_004128.1	Q16558	KCMB1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 1	11					platelet activation|synaptic transmission		calcium-activated potassium channel activity|potassium channel regulator activity			endometrium(1)|large_intestine(1)|lung(7)|ovary(2)	11	Renal(175;0.000159)|Lung NSC(126;0.0165)|all_lung(126;0.026)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.175)		GTCTCTCCCCGCTTCTGGGCC	0.542													A	169812421	G	A	169812421	3	1	364	1	0	0	0	0	1	0	0	0	8132	1086	38	1	556	1	KCNMB1	5	169812421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122561	169812421	11102839	4933	28435											
GABRP	2568	broad.mit.edu	37	chr5	170239075	170239075	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttccagcgacaacgttgActacagtgacttgacaatga	14	10	8	9	2	0	4	0	4	0	0	1	5	1	4	1	0	3	1	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170239075A>C	ENST00000518525.1	+	11	1600	c.1136A>C	c.(1135-1137)gAc>gCc	p.D379A	GABRP_ENST00000265294.4_Missense_Mutation_p.D379A|GABRP_ENST00000519385.1_3'UTR			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	379						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GACAACGTTGACTACAGTGAC	0.403													C	170239075	A	C	170239075	3	2	364	1	0	0	0	0	1	0	0	0	6226	275	10	5	1170	5	GABRP	5	170239075	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	426654	170239075	10676185	4934	28436											
RANBP17	64901	broad.mit.edu	37	chr5	170395324	170395324	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagagcttgcaattctgtgGttcttggatcagtttcgtaa	9	16	10	6	1	3	1	1	0	2	1	4	2	3	2	0	2	2	5	0	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170395324G>A	ENST00000523189.1	+	14	1817	c.1653G>A	c.(1651-1653)tgG>tgA	p.W551*		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	551					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			CAATTCTGTGGTTCTTGGATC	0.348			T	TRD@	ALL								A	170395324	G	A	170395324	4	1	364	1	0	0	0	0	0	1	0	0	13115	1270	44	2	1707	2	RANBP17	5	170395324	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156249	170395324	10519936	4935	28437											
NPM1	4869	broad.mit.edu	37	chr5	170817090	170817090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgacaaagattatcactttAaggtggataatgatgaaaat	17	11	8	5	1	1	3	1	2	0	1	1	5	1	4	1	2	0	0	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170817090A>G	ENST00000296930.5	+	2	395	c.94A>G	c.(94-96)Aag>Gag	p.K32E	NPM1_ENST00000393820.2_Missense_Mutation_p.K32E|NPM1_ENST00000517671.1_Missense_Mutation_p.K32E|NPM1_ENST00000351986.6_Missense_Mutation_p.K32E	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	32	Necessary for interaction with APEX1.|Required for interaction with SENP3.				anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTATCACTTTAAGGTGGATAA	0.328			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								G	170817090	A	G	170817090	3	3	364	1	0	0	0	0	1	0	0	0	10663	363	13	3	100	3	NPM1	5	170817090	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	421766	170817090	10098170	4936	28438											
NPM1	4869	broad.mit.edu	37	chr5	170827849	170827849	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttctaattgcagtctataCgagatactccagccaaaaat	15	12	5	9	1	2	1	0	0	2	1	3	2	3	1	2	0	4	1	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:170827849C>T	ENST00000296930.5	+	8	890	c.589C>T	c.(589-591)Cga>Tga	p.R197*	NPM1_ENST00000393820.2_Nonsense_Mutation_p.R197*|NPM1_ENST00000517671.1_Nonsense_Mutation_p.R197*|NPM1_ENST00000351986.6_Intron	NM_002520.6	NP_002511.1	P06748	NPM_HUMAN	nucleophosmin (nucleolar phosphoprotein B23, numatrin)	197					anti-apoptosis|cell aging|CenH3-containing nucleosome assembly at centromere|centrosome cycle|DNA repair|interspecies interaction between organisms|intracellular protein transport|negative regulation of cell proliferation|negative regulation of centrosome duplication|nucleocytoplasmic transport|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|regulation of endodeoxyribonuclease activity|regulation of endoribonuclease activity|ribosome assembly|signal transduction	nucleolus|nucleoplasm|ribonucleoprotein complex|spindle pole centrosome	histone binding|NF-kappaB binding|protein binding|protein heterodimerization activity|protein homodimerization activity|ribosomal large subunit binding|ribosomal small subunit binding|RNA binding|Tat protein binding|transcription coactivator activity|unfolded protein binding		NPM1/ALK(632)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4261)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	4269	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCAGTCTATACGAGATACTCC	0.398			"T, F "	"ALK, RARA, MLF1"	"NHL, APL, AML"								T	170827849	C	T	170827849	4	4	364	1	0	0	0	0	0	1	0	0	10663	528	19	1	619	1	NPM1	5	170827849	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10759	170827849	10087411	4937	28439											
FBXW11	23291	broad.mit.edu	37	chr5	171303505	171303505	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattgtggtggatcaatgtGttaagaacttcacccgtgtt	9	15	10	7	1	3	1	3	0	0	1	3	2	3	2	1	2	1	2	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171303505G>A	ENST00000296933.6	-	8	1273	c.903C>T	c.(901-903)aaC>aaT	p.N301N	FBXW11_ENST00000522891.1_5'UTR|FBXW11_ENST00000265094.5_Silent_p.N314N|FBXW11_ENST00000425623.2_Silent_p.N282N|FBXW11_ENST00000393802.2_Silent_p.N280N	NM_033644.2|NM_033645.2	NP_387448.2|NP_387449.2	Q9UKB1	FBW1B_HUMAN	F-box and WD repeat domain containing 11	314					cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of circadian rhythm|positive regulation of proteolysis|positive regulation of transcription, DNA-dependent|protein dephosphorylation|protein destabilization|protein polyubiquitination|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	centrosome|cytosol|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	21	Renal(175;0.000159)|Lung NSC(126;0.00384)|all_lung(126;0.00659)	Medulloblastoma(196;0.00853)|all_neural(177;0.026)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATCAATGTGTTAAGAACTT	0.468													A	171303505	G	A	171303505	2	1	364	1	0	0	0	0	0	0	0	1	5813	1368	48	2		2	FBXW11	5	171303505	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475656	171303505	9611755	4938	28440											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171765664	171765664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgcctcgcgtgtcatcCtggccccccaaagagttgga	6	10	10	15	2	1	1	1	0	0	1	3	2	2	2	6	2	1	1	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171765664C>A	ENST00000311601.5	-	13	2615	c.2445G>T	c.(2443-2445)caG>caT	p.Q815H	SH3PXD2B_ENST00000519643.1_Intron	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	815					adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GCGTGTCATCCTGGCCCCCCA	0.612													A	171765664	C	A	171765664	3	1	364	1	0	0	0	0	1	0	0	0	14351	680	24	4	294	4	SH3PXD2B	5	171765664	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	462159	171765664	9149596	4939	28441											
SH3PXD2B	285590	broad.mit.edu	37	chr5	171809059	171809059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctttggggggattcaggtCctcaggtcttgtctcaaaga	7	13	12	9	0	5	1	3	0	3	1	7	2	6	2	1	5	0	0	1	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:171809059C>T	ENST00000311601.5	-	5	552	c.382G>A	c.(382-384)Gac>Aac	p.D128N	SH3PXD2B_ENST00000519643.1_Missense_Mutation_p.D128N	NM_001017995.2	NP_001017995.1	A1X283	SPD2B_HUMAN	SH3 and PX domains 2B	128	PX.				adipose tissue development|bone development|cell communication|cell differentiation|eye development|heart development|podosome assembly	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-5-phosphate binding|SH2 domain binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	Renal(175;0.000159)|Lung NSC(126;0.011)|all_lung(126;0.0175)	Medulloblastoma(196;0.0207)|all_neural(177;0.0625)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GGATTCAGGTCCTCAGGTCTT	0.567													T	171809059	C	T	171809059	3	4	364	1	0	0	0	0	1	0	0	0	14351	855	30	2	2389	2	SH3PXD2B	5	171809059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43395	171809059	9106201	4940	28442											
ERGIC1	57222	broad.mit.edu	37	chr5	172324045	172324045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcatcctcttcctcttcctCtcggagctcaccggatttat	5	16	5	15	2	5	0	2	0	3	0	9	2	8	2	4	2	1	1	4	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172324045C>T	ENST00000393784.3	+	3	262	c.123C>T	c.(121-123)ctC>ctT	p.L41L	ERGIC1_ENST00000523291.1_Silent_p.L41L|ERGIC1_ENST00000519860.1_3'UTR	NM_001031711.2	NP_001026881.1	Q969X5	ERGI1_HUMAN	endoplasmic reticulum-golgi intermediate compartment (ERGIC) 1	41					ER to Golgi vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)	9	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TCCTCTTCCTCTCGGAGCTCA	0.517													T	172324045	C	T	172324045	2	4	364	1	0	0	0	0	0	0	0	1	5264	900	32	2		2	ERGIC1	5	172324045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	514986	172324045	8591215	4941	28443											
RPL26L1	51121	broad.mit.edu	37	chr5	172387010	172387010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggcagaagtacaatgtccGctccatgcccatccgcaagg	10	6	11	14	3	0	1	0	0	0	1	3	1	3	1	4	2	2	4	4	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:172387010G>A	ENST00000521476.1	+	2	258	c.134G>A	c.(133-135)cGc>cAc	p.R45H	RPL26L1_ENST00000519974.1_Missense_Mutation_p.R45H|RPL26L1_ENST00000265100.2_Missense_Mutation_p.R45H|RPL26L1_ENST00000519239.1_Missense_Mutation_p.R45H			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	45					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TACAATGTCCGCTCCATGCCC	0.592													A	172387010	G	A	172387010	3	1	364	1	0	0	0	0	1	0	0	0	13665	1087	38	1	136	1	RPL26L1	5	172387010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62965	172387010	8528250	4942	28444											
CPEB4	80315	broad.mit.edu	37	chr5	173316959	173316959	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataacattcaggatgagatcTtggggtcagaaaaagcaaaa	18	8	10	5	0	3	2	2	1	1	2	3	4	3	3	0	3	2	1	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173316959T>G	ENST00000265085.5	+	1	1677	c.223T>G	c.(223-225)Ttg>Gtg	p.L75V	CPEB4_ENST00000520867.1_Missense_Mutation_p.L75V|CPEB4_ENST00000519835.1_Missense_Mutation_p.L75V|CPEB4_ENST00000334035.5_Missense_Mutation_p.L75V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	75							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATGAGATCTTGGGGTCAGA	0.478													G	173316959	T	G	173316959	3	3	364	1	0	0	0	0	1	0	0	0	3834	1606	56	5	225	5	CPEB4	5	173316959	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	929949	173316959	7598301	4943	28445											
CPEB4	80315	broad.mit.edu	37	chr5	173378897	173378897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcacagccacttgacccacGaaaaactatatttgttggtg	12	12	7	10	1	1	1	1	1	0	0	1	2	1	1	2	1	2	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173378897G>A	ENST00000265085.5	+	8	3190	c.1736G>A	c.(1735-1737)cGa>cAa	p.R579Q	CPEB4_ENST00000517880.1_Missense_Mutation_p.R172Q|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.R189Q|CPEB4_ENST00000520867.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000519835.1_Missense_Mutation_p.R554Q|CPEB4_ENST00000334035.5_Missense_Mutation_p.R562Q	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	579							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CTTGACCCACGAAAAACTATA	0.428													A	173378897	G	A	173378897	3	1	364	1	0	0	0	0	1	0	0	0	3834	1058	37	1	1766	1	CPEB4	5	173378897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61938	173378897	7536363	4944	28446											
CPEB4	80315	broad.mit.edu	37	chr5	173380103	173380103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttaattagtggagcttgCgatgataatggatcggctat	10	15	11	5	2	1	1	0	1	1	0	2	4	1	3	0	3	2	2	0	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:173380103C>T	ENST00000265085.5	+	9	3244	c.1790C>T	c.(1789-1791)gCg>gTg	p.A597V	CPEB4_ENST00000517880.1_Missense_Mutation_p.A190V|CPEB4_ENST00000519467.1_3'UTR|CPEB4_ENST00000522336.1_Missense_Mutation_p.A207V|CPEB4_ENST00000520867.1_Missense_Mutation_p.A572V|CPEB4_ENST00000519835.1_Missense_Mutation_p.A572V|CPEB4_ENST00000334035.5_Missense_Mutation_p.A580V	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	597	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGGAGCTTGCGATGATAATG	0.433													T	173380103	C	T	173380103	3	4	364	1	0	0	0	0	1	0	0	0	3834	768	27	1	1824	1	CPEB4	5	173380103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1206	173380103	7535157	4945	28447											
SFXN1	94081	broad.mit.edu	37	chr5	174919203	174919203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatttcttcactgtaactGaccccaggaacattctgtta	11	14	5	11	0	4	1	2	1	2	0	4	2	4	2	2	1	2	2	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:174919203G>A	ENST00000321442.5	+	2	351	c.97G>A	c.(97-99)Gac>Aac	p.D33N	SFXN1_ENST00000502393.1_Missense_Mutation_p.D33N	NM_022754.5	NP_073591.2	Q9H9B4	SFXN1_HUMAN	sideroflexin 1	33					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity|protein binding			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(3)	15	all_cancers(89;0.00922)|Renal(175;0.000269)|Lung NSC(126;0.00515)|all_lung(126;0.00873)	Medulloblastoma(196;0.0399)|all_neural(177;0.0663)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACTGTAACTGACCCCAGGAA	0.388													A	174919203	G	A	174919203	3	1	364	1	0	0	0	0	1	0	0	0	14287	1290	45	2	99	2	SFXN1	5	174919203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1539100	174919203	5996057	4946	28448											
HRH2	3274	broad.mit.edu	37	chr5	175111286	175111286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgtggagtgggacagaagtCacggccccccagggagccac	9	4	16	12	1	1	1	1	0	0	1	1	4	1	4	4	4	1	0	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175111286C>T	ENST00000231683.2	+	1	2823	c.1050C>T	c.(1048-1050)gtC>gtT	p.V350V	HRH2_ENST00000377291.2_Silent_p.V350V	NM_022304.2	NP_071640.1	P25021	HRH2_HUMAN	histamine receptor H2	350					G-protein signaling, coupled to cyclic nucleotide second messenger|immune response	integral to plasma membrane	histamine receptor activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(10)|ovary(1)	22	all_cancers(89;0.00805)|Renal(175;0.000269)|Lung NSC(126;0.00419)|all_lung(126;0.00711)	Medulloblastoma(196;0.0208)|all_neural(177;0.0277)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Colorectal(1;0.0154)|COAD - Colon adenocarcinoma(1;0.149)	Betazole(DB00272)|Cimetidine(DB00501)|Doxepin(DB01142)|Epinastine(DB00751)|Famotidine(DB00927)|Histamine Phosphate(DB00667)|Nizatidine(DB00585)|Ranitidine(DB00863)	GGACAGAAGTCACGGCCCCCC	0.582													T	175111286	C	T	175111286	2	4	364	1	0	0	0	0	0	0	0	1	7411	813	29	2		2	HRH2	5	175111286	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192083	175111286	5803974	4947	28449											
KIAA1191	57179	broad.mit.edu	37	chr5	175775000	175775000	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgtccttatccccactTccagagtccatggtgctagg	6	14	8	13	0	1	1	0	0	1	1	5	1	5	1	5	2	1	1	5	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175775000T>C	ENST00000298569.4	-	8	1166	c.633A>G	c.(631-633)ggA>ggG	p.G211G	KIAA1191_ENST00000533553.1_3'UTR|KIAA1191_ENST00000393728.2_5'UTR|RP11-843P14.2_ENST00000508187.1_RNA|KIAA1191_ENST00000510164.1_Silent_p.G211G|KIAA1191_ENST00000393725.2_Silent_p.G192G	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	211							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		TATCCCCACTTCCAGAGTCCA	0.463													C	175775000	T	C	175775000	2	2	364	1	0	0	0	0	0	0	0	1	8270	1770	62	3		3	KIAA1191	5	175775000	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	663714	175775000	5140260	4948	28450											
ARL10	285598	broad.mit.edu	37	chr5	175793446	175793446	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagcgcgaggtgctggtgCtggggctggatggcgcaggc	6	6	20	9	3	0	0	0	0	0	0	0	2	0	1	0	7	4	4	0	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793446C>T	ENST00000310389.5	+	2	343	c.247C>T	c.(247-249)Ctg>Ttg	p.L83L		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	83							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGTGCTGGTGCTGGGGCTGGA	0.697													T	175793446	C	T	175793446	2	4	364	1	0	0	0	0	0	0	0	1	929	796	28	2		2	ARL10	5	175793446	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18446	175793446	5121814	4949	28451											
ARL10	285598	broad.mit.edu	37	chr5	175793460	175793460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggggctggatggCgcaggcaagagcacgttcct	6	8	17	10	2	0	1	0	0	0	1	1	2	1	2	1	6	2	6	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175793460C>T	ENST00000310389.5	+	2	357	c.261C>T	c.(259-261)ggC>ggT	p.G87G		NM_173664.4	NP_775935.1	Q8N8L6	ARL10_HUMAN	ADP-ribosylation factor-like 10	87							GTP binding			endometrium(2)|lung(1)|ovary(1)	4	all_cancers(89;0.0064)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		GGCTGGATGGCGCAGGCAAGA	0.682													T	175793460	C	T	175793460	2	4	364	1	0	0	0	0	0	0	0	1	929	755	27	1		1	ARL10	5	175793460	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	175793460	5121800	4950	28452											
NOP16	51491	broad.mit.edu	37	chr5	175815519	175815519	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaacttctgcctccgggTtttgcccttggccttgggca	5	12	10	14	1	1	0	0	0	1	0	2	0	2	0	5	3	3	2	5	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175815519T>C	ENST00000389158.5	-	1	457	c.22A>G	c.(22-24)Acc>Gcc	p.T8A	NOP16_ENST00000509257.1_Missense_Mutation_p.T8A|NOP16_ENST00000510123.1_Missense_Mutation_p.T8A|NOP16_ENST00000507413.1_Missense_Mutation_p.T8A			Q9Y3C1	NOP16_HUMAN	NOP16 nucleolar protein	8						nucleolus				central_nervous_system(1)|endometrium(2)|lung(4)|ovary(1)	8						TGCCTCCGGGTTTTGCCCTTG	0.602													C	175815519	T	C	175815519	3	2	364	1	0	0	0	0	1	0	0	0	10613	1725	60	3	533	3	NOP16	5	175815519	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22059	175815519	5099741	4951	28453											
FAF2	23197	broad.mit.edu	37	chr5	175913417	175913417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgttttcaacccacctcCatcacgacccctgcaggtta	9	11	6	15	1	2	0	2	0	0	0	3	1	3	0	5	1	2	3	5	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175913417C>A	ENST00000261942.6	+	3	247	c.194C>A	c.(193-195)cCa>cAa	p.P65Q	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	65					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						AACCCACCTCCATCACGACCC	0.493													A	175913417	C	A	175913417	3	1	364	1	0	0	0	0	1	0	0	0	5415	594	21	4	204	4	FAF2	5	175913417	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97898	175913417	5001843	4952	28454											
RNF44	22838	broad.mit.edu	37	chr5	175956561	175956561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtccgggttaaagcGgtacgacgggagctgctcta	8	9	15	9	4	1	0	0	0	1	0	2	2	2	1	1	4	4	5	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:175956561G>A	ENST00000274811.4	-	9	1623	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	RNF44_ENST00000537487.1_Missense_Mutation_p.R286C	NM_014901.4	NP_055716.1	Q7L0R7	RNF44_HUMAN	ring finger protein 44	367							zinc ion binding			endometrium(2)|lung(3)|prostate(1)|skin(1)|stomach(1)	8	all_cancers(89;0.0029)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGTTAAAGCGGTACGACGGG	0.657													A	175956561	G	A	175956561	3	1	364	1	0	0	0	0	1	0	0	0	13587	1116	39	1	211	1	RNF44	5	175956561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43144	175956561	4958699	4953	28455											
CDHR2	54825	broad.mit.edu	37	chr5	176003072	176003072	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactgcagcctcccagcCtgcaccttcacccccgaaga	10	6	6	19	1	1	1	1	0	0	1	2	2	2	1	6	0	6	2	6	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176003072C>A	ENST00000510636.1	+	12	1354	c.1080C>A	c.(1078-1080)gcC>gcA	p.A360A	CDHR2_ENST00000261944.5_Silent_p.A360A|CDHR2_ENST00000506348.1_Silent_p.A360A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	360					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GCCTCCCAGCCTGCACCTTCA	0.577													A	176003072	C	A	176003072	2	1	364	1	0	0	0	0	0	0	0	1	3149	668	24	4		4	CDHR2	5	176003072	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46511	176003072	4912188	4954	28456											
CDHR2	54825	broad.mit.edu	37	chr5	176005051	176005051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggccacggacccagacaCgggcgcgtggggccaaatta	11	3	14	13	4	0	1	0	0	0	1	0	2	0	2	3	5	0	0	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176005051C>T	ENST00000510636.1	+	15	1803	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M	CDHR2_ENST00000261944.5_Missense_Mutation_p.T510M|CDHR2_ENST00000506348.1_Missense_Mutation_p.T510M	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	510	Cadherin 5.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACCCAGACACGGGCGCGTGG	0.667													T	176005051	C	T	176005051	3	4	364	1	0	0	0	0	1	0	0	0	3149	536	19	1	1583	1	CDHR2	5	176005051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1979	176005051	4910209	4955	28457											
CDHR2	54825	broad.mit.edu	37	chr5	176011502	176011502	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcggggagtggtgccaaCtacttcatgatccgaggctt	7	11	13	10	2	1	1	1	1	0	0	3	3	2	2	2	4	3	1	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011502C>A	ENST00000510636.1	+	19	2494	c.2220C>A	c.(2218-2220)aaC>aaA	p.N740K	CDHR2_ENST00000261944.5_Missense_Mutation_p.N740K|CDHR2_ENST00000506348.1_Missense_Mutation_p.N740K	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	740	Cadherin 7.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GTGGTGCCAACTACTTCATGA	0.642													A	176011502	C	A	176011502	3	1	364	1	0	0	0	0	1	0	0	0	3149	564	20	4	2290	4	CDHR2	5	176011502	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6451	176011502	4903758	4956	28458											
CDHR2	54825	broad.mit.edu	37	chr5	176011940	176011940	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccatcgactacgaggcCtgtgacctggtcacgctggt	9	8	12	12	3	1	1	1	1	0	0	2	3	1	1	3	3	2	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176011940C>A	ENST00000510636.1	+	19	2932	c.2658C>A	c.(2656-2658)gcC>gcA	p.A886A	CDHR2_ENST00000261944.5_Silent_p.A886A|CDHR2_ENST00000506348.1_Silent_p.A886A	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	886	Cadherin 8.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ACTACGAGGCCTGTGACCTGG	0.627													A	176011940	C	A	176011940	2	1	364	1	0	0	0	0	0	0	0	1	3149	668	24	4		4	CDHR2	5	176011940	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	438	176011940	4903320	4957	28459											
CDHR2	54825	broad.mit.edu	37	chr5	176016106	176016106	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacttcatctctaaggaCggggccaccatccctttcca	9	10	8	14	1	2	1	1	0	1	1	5	2	4	2	4	3	0	1	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176016106C>T	ENST00000510636.1	+	22	3205	c.2931C>T	c.(2929-2931)gaC>gaT	p.D977D	CDHR2_ENST00000261944.5_Silent_p.D977D|CDHR2_ENST00000506348.1_Silent_p.D977D	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	977	Cadherin 9.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						TCTCTAAGGACGGGGCCACCA	0.577													T	176016106	C	T	176016106	2	4	364	1	0	0	0	0	0	0	0	1	3149	535	19	1		1	CDHR2	5	176016106	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4166	176016106	4899154	4958	28460											
CDHR2	54825	broad.mit.edu	37	chr5	176017138	176017138	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacattcaggacatagattCtgcagctcggtgagtgccca	10	9	12	10	1	2	2	1	1	1	1	3	4	2	4	1	3	3	2	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176017138C>A	ENST00000510636.1	+	25	3540	c.3266C>A	c.(3265-3267)tCt>tAt	p.S1089Y	CDHR2_ENST00000261944.5_Missense_Mutation_p.S1089Y|CDHR2_ENST00000506348.1_Missense_Mutation_p.S1089Y	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	1089					homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						GACATAGATTCTGCAGCTCGG	0.582													A	176017138	C	A	176017138	3	1	364	1	0	0	0	0	1	0	0	0	3149	913	32	4	3360	4	CDHR2	5	176017138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1032	176017138	4898122	4959	28461											
GPRIN1	114787	broad.mit.edu	37	chr5	176025059	176025059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttttcccagggacaCgggatccaccttccccgagg	6	10	10	15	2	1	0	0	0	1	0	4	3	4	2	5	3	1	1	5	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025059C>T	ENST00000303991.4	-	2	1954	c.1777G>A	c.(1777-1779)Gtg>Atg	p.V593M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	593						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCAGGGACACGGGATCCACC	0.572													T	176025059	C	T	176025059	3	4	364	1	0	0	0	0	1	0	0	0	6784	536	19	1	1253	1	GPRIN1	5	176025059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7921	176025059	4890201	4960	28462											
GPRIN1	114787	broad.mit.edu	37	chr5	176025661	176025661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgaagccgtagtatccGtgtggccagacacaggacgc	9	8	13	11	3	0	2	0	1	0	1	1	3	1	3	3	2	2	3	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176025661G>A	ENST00000303991.4	-	2	1352	c.1175C>T	c.(1174-1176)aCg>aTg	p.T392M		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	392						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTAGTATCCGTGTGGCCAGA	0.522													A	176025661	G	A	176025661	3	1	364	1	0	0	0	0	1	0	0	0	6784	1145	40	1	1855	1	GPRIN1	5	176025661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	602	176025661	4889599	4961	28463											
GPRIN1	114787	broad.mit.edu	37	chr5	176026572	176026572	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcaggccaggctcccTctggggccgtcagagcagga	7	4	18	12	1	2	1	1	0	1	1	3	3	3	2	3	7	1	3	3	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176026572T>C	ENST00000303991.4	-	2	441	c.264A>G	c.(262-264)agA>agG	p.R88R		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	88						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAGGCTCCCTCTGGGGCCGT	0.657													C	176026572	T	C	176026572	2	2	364	1	0	0	0	0	0	0	0	1	6784	1548	54	3		3	GPRIN1	5	176026572	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	911	176026572	4888688	4962	28464											
TSPAN17	26262	broad.mit.edu	37	chr5	176078862	176078862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgggctttgctggctgCattggggccctccgggagaa	4	10	17	10	1	0	1	0	0	0	1	1	2	1	1	2	5	3	5	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176078862C>T	ENST00000405525.2	+	3	475	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TSPAN17_ENST00000508164.1_Silent_p.C82C|TSPAN17_ENST00000515708.1_Silent_p.C82C|TSPAN17_ENST00000298564.10_Intron|TSPAN17_ENST00000310032.8_Silent_p.C82C|TSPAN17_ENST00000503045.1_Silent_p.C82C	NM_001006616.2	NP_001006617.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	82						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTGCTGGCTGCATTGGGGCCC	0.582													T	176078862	C	T	176078862	2	4	364	1	0	0	0	0	0	0	0	1	16742	718	25	2		2	TSPAN17	5	176078862	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52290	176078862	4836398	4963	28465											
TSPAN17	26262	broad.mit.edu	37	chr5	176084557	176084557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgaaaaccactggcttaCgcccaccatttccgaggtcc	9	10	7	15	2	0	1	0	1	0	0	2	2	2	1	5	2	2	1	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084557C>T	ENST00000310032.8	+	9	1086	c.857C>T	c.(856-858)aCg>aTg	p.T286M	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Missense_Mutation_p.T283M|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Missense_Mutation_p.T263M	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	130						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACTGGCTTACGCCCACCATT	0.562													T	176084557	C	T	176084557	3	4	364	1	0	0	0	0	1	0	0	0	16742	536	19	1	891	1	TSPAN17	5	176084557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5695	176084557	4830703	4964	28466											
TSPAN17	26262	broad.mit.edu	37	chr5	176084699	176084699	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacctttaaaaattggtaGatttcacataaaagtccaga	17	11	5	8	0	1	2	1	0	0	2	2	2	2	2	3	1	1	1	3	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176084699G>T	ENST00000310032.8	+	9	1228	c.999G>T	c.(997-999)taG>taT	p.*333Y	TSPAN17_ENST00000405525.2_3'UTR|TSPAN17_ENST00000508164.1_Nonstop_Mutation_p.*330Y|TSPAN17_ENST00000515708.1_3'UTR|TSPAN17_ENST00000298564.10_3'UTR|TSPAN17_ENST00000503045.1_Nonstop_Mutation_p.*310Y	NM_012171.2|NM_130465.4	NP_036303.1|NP_569732.2	Q96FV3	TSN17_HUMAN	tetraspanin 17	0						integral to membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	13	all_cancers(89;0.00141)|Renal(175;0.000269)|Lung NSC(126;0.00814)|all_lung(126;0.0133)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			aaaattggtagatttcacata	0.542													T	176084699	G	T	176084699	4	4	364	1	0	0	0	0	0	0	0	0	16742	937	33	4	1033	4	TSPAN17	5	176084699	Nonstop_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142	176084699	4830561	4965	28467											
UNC5A	90249	broad.mit.edu	37	chr5	176297468	176297468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgacccagcaccccgcaaCggaggggaggagtgccaggg	9	3	16	13	2	1	1	0	1	1	0	1	4	1	4	4	5	3	2	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176297468C>T	ENST00000329542.4	+	6	1093	c.819C>T	c.(817-819)aaC>aaT	p.N273N	UNC5A_ENST00000261961.3_Silent_p.N233N	NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	273	TSP type-1.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CACCCCGCAACGGAGGGGAGG	0.642													T	176297468	C	T	176297468	2	4	364	1	0	0	0	0	0	0	0	1	17093	535	19	1		1	UNC5A	5	176297468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212769	176297468	4617792	4966	28468											
HK3	3101	broad.mit.edu	37	chr5	176308174	176308174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggaacgtgaccacacagCgaggggccagctcccgcact	10	3	13	15	3	0	1	0	1	0	0	1	3	1	2	3	3	3	3	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176308174C>T	ENST00000292432.5	-	19	2763	c.2672G>A	c.(2671-2673)cGc>cAc	p.R891H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	891	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCACACAGCGAGGGGCCAG	0.672													T	176308174	C	T	176308174	3	4	364	1	0	0	0	0	1	0	0	0	7247	768	27	1	103	1	HK3	5	176308174	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10706	176308174	4607086	4967	28469											
FGFR4	2264	broad.mit.edu	37	chr5	176517466	176517466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcagcctgtgcgtctgtGctgtgggcgggctgagcgtg	2	10	20	9	3	1	1	0	1	1	0	1	1	1	1	1	3	4	3	1	3	0	0	rs150191035		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176517466G>A	ENST00000292408.4	+	3	412	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	FGFR4_ENST00000393637.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000502906.1_Missense_Mutation_p.C56Y|FGFR4_ENST00000507708.1_3'UTR|FGFR4_ENST00000393648.2_Missense_Mutation_p.C56Y|FGFR4_ENST00000292410.3_Missense_Mutation_p.C56Y	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	56	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GTGCGTCTGTGCTGTGGGCGG	0.682										TSP Lung(9;0.080)			A	176517466	G	A	176517466	3	1	364	1	0	0	0	0	1	0	0	0	5917	1319	46	2	173	2	FGFR4	5	176517466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209292	176517466	4397794	4968	28470											
FGFR4	2264	broad.mit.edu	37	chr5	176518737	176518737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgtggtgccctcggacCgcggcacatacacctgcctg	7	6	13	15	4	0	1	0	0	0	1	1	2	0	2	4	3	4	1	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176518737C>T	ENST00000292408.4	+	6	900	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	FGFR4_ENST00000393637.1_Missense_Mutation_p.R219C|FGFR4_ENST00000502906.1_Missense_Mutation_p.R219C|FGFR4_ENST00000393648.2_Missense_Mutation_p.R219C|FGFR4_ENST00000292410.3_Missense_Mutation_p.R219C	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	219	Ig-like C2-type 2.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCCCTCGGACCGCGGCACATA	0.637										TSP Lung(9;0.080)			T	176518737	C	T	176518737	3	4	364	1	0	0	0	0	1	0	0	0	5917	652	23	1	673	1	FGFR4	5	176518737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1271	176518737	4396523	4969	28471											
NSD1	64324	broad.mit.edu	37	chr5	176638615	176638615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgtactgcagggagaccGagaacgtggaggttcattga	10	9	15	7	2	1	3	1	1	0	2	1	6	1	4	1	3	4	4	1	3	2	3	rs28932180		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176638615G>A	ENST00000439151.2	+	5	3260	c.3215G>A	c.(3214-3216)cGa>cAa	p.R1072Q	NSD1_ENST00000354179.4_Missense_Mutation_p.R803Q|NSD1_ENST00000347982.4_Missense_Mutation_p.R803Q|NSD1_ENST00000361032.4_Missense_Mutation_p.R969Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1072					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CAGGGAGACCGAGAACGTGGA	0.463			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			A	176638615	G	A	176638615	3	1	364	1	0	0	0	0	1	0	0	0	10745	1058	37	1	3229	1	NSD1	5	176638615	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119878	176638615	4276645	4970	28472											
NSD1	64324	broad.mit.edu	37	chr5	176707732	176707732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgtcctgccggagggcGctgtcaaaaccagtgctttt	7	11	13	10	2	1	0	1	0	0	0	2	1	2	1	3	2	3	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176707732G>A	ENST00000439151.2	+	18	5834	c.5789G>A	c.(5788-5790)cGc>cAc	p.R1930H	NSD1_ENST00000354179.4_Missense_Mutation_p.R1661H|NSD1_ENST00000361032.4_Missense_Mutation_p.R1827H|NSD1_ENST00000347982.4_Missense_Mutation_p.R1661H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1930	AWS.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GCCGGAGGGCGCTGTCAAAAC	0.498			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			A	176707732	G	A	176707732	3	1	364	1	0	0	0	0	1	0	0	0	10745	1087	38	1	5855	1	NSD1	5	176707732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69117	176707732	4207528	4971	28473											
NSD1	64324	broad.mit.edu	37	chr5	176722240	176722240	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtaaccacagagcaaagtcCctgggccctgggaaaagcct	12	5	12	12	0	0	1	0	0	0	1	1	2	1	2	4	3	3	2	4	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176722240C>A	ENST00000439151.2	+	23	7916	c.7871C>A	c.(7870-7872)cCc>cAc	p.P2624H	NSD1_ENST00000354179.4_Missense_Mutation_p.P2355H|NSD1_ENST00000361032.4_Missense_Mutation_p.P2521H|NSD1_ENST00000347982.4_Missense_Mutation_p.P2355H	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	2624					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		GAGCAAAGTCCCTGGGCCCTG	0.587			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			A	176722240	C	A	176722240	3	1	364	1	0	0	0	0	1	0	0	0	10745	623	22	4	7957	4	NSD1	5	176722240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14508	176722240	4193020	4972	28474											
SLC34A1	6569	broad.mit.edu	37	chr5	176815130	176815130	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttcaacatccatggtggCcgtgatgctcctgacctgct	6	12	9	14	1	1	2	1	2	0	0	4	2	4	2	5	2	3	2	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176815130C>T	ENST00000324417.5	+	7	871	c.780C>T	c.(778-780)ggC>ggT	p.G260G	SLC34A1_ENST00000512593.1_Silent_p.G260G	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	260					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCATGGTGGCCGTGATGCTC	0.602													T	176815130	C	T	176815130	2	4	364	1	0	0	0	0	0	0	0	1	14661	726	26	2		2	SLC34A1	5	176815130	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92890	176815130	4100130	4973	28475											
SLC34A1	6569	broad.mit.edu	37	chr5	176824065	176824065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggagaagctgtccaGcgctttccaggtgcgctggg	6	7	15	13	2	0	1	0	0	0	1	2	2	2	1	4	3	3	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176824065G>A	ENST00000324417.5	+	12	1497	c.1406G>A	c.(1405-1407)aGc>aAc	p.S469N	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAGCTGTCCAGCGCTTTCCAG	0.627													A	176824065	G	A	176824065	3	1	364	1	0	0	0	0	1	0	0	0	14661	971	34	2	1539	2	SLC34A1	5	176824065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8935	176824065	4091195	4974	28476											
DBN1	1627	broad.mit.edu	37	chr5	176893796	176893796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagactgctccttcaaccGcctcttggcctcttccgctt	5	13	7	16	2	3	1	1	0	2	1	5	2	5	1	5	1	2	2	5	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176893796G>A	ENST00000292385.5	-	9	1363	c.754C>T	c.(754-756)Cgg>Tgg	p.R252W	DBN1_ENST00000393565.1_Missense_Mutation_p.R250W|DBN1_ENST00000309007.5_Missense_Mutation_p.R250W	NM_080881.2	NP_543157	Q16643	DREB_HUMAN	drebrin 1	250					actin filament organization|regulation of dendrite development|regulation of neuronal synaptic plasticity	actomyosin|cytoplasm|dendrite	actin binding|profilin binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(12)|ovary(1)|skin(2)	25	all_cancers(89;2.17e-05)|Renal(175;0.000269)|Lung NSC(126;0.0014)|all_lung(126;0.0025)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCCTTCAACCGCCTCTTGGCC	0.602													A	176893796	G	A	176893796	3	1	364	1	0	0	0	0	1	0	0	0	4286	1086	38	1	1229	1	DBN1	5	176893796	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69731	176893796	4021464	4975	28477											
DOK3	79930	broad.mit.edu	37	chr5	176931113	176931113	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatccagctccagcagccgCcggtactgggcctccagggt	6	7	13	15	2	0	1	0	1	0	0	3	1	3	1	6	3	4	3	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931113C>T	ENST00000501403.2	-	6	1543	c.1194G>A	c.(1192-1194)cgG>cgA	p.R398R	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Silent_p.R454R|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	454	Pro-rich.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCAGCAGCCGCCGGTACTGGG	0.677													T	176931113	C	T	176931113	2	4	364	1	0	0	0	0	0	0	0	1	4737	726	26	2		2	DOK3	5	176931113	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37317	176931113	3984147	4976	28478											
DOK3	79930	broad.mit.edu	37	chr5	176931382	176931382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctagcagtagcggcaGgctctggggtccgggctcgg	4	6	19	12	4	1	0	0	0	1	0	3	0	2	0	2	7	2	5	2	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176931382G>T	ENST00000501403.2	-	6	1274	c.925C>A	c.(925-927)Ctg>Atg	p.L309M	DOK3_ENST00000377112.4_Intron|DOK3_ENST00000357198.4_Missense_Mutation_p.L365M|DOK3_ENST00000312943.6_Intron			Q7L591	DOK3_HUMAN	docking protein 3	365	IRS-type PTB.					cytoplasm|plasma membrane	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			AGTAGCGGCAGGCTCTGGGGT	0.672													T	176931382	G	T	176931382	3	4	364	1	0	0	0	0	1	0	0	0	4737	991	35	4	753	4	DOK3	5	176931382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	176931382	3983878	4977	28479											
DDX41	51428	broad.mit.edu	37	chr5	176939798	176939798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacctttgcccccatggatgGctacggcctcaacccccttg	6	9	9	17	1	1	0	1	0	0	0	1	2	1	1	6	3	3	1	6	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176939798G>A	ENST00000507955.1	-	13	1905	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	461	Helicase C-terminal.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CCCATGGATGGCTACGGCCTC	0.587													A	176939798	G	A	176939798	3	1	364	1	0	0	0	0	1	0	0	0	4395	1203	42	2	506	2	DDX41	5	176939798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8416	176939798	3975462	4978	28480											
FAM193B	54540	broad.mit.edu	37	chr5	176965998	176965998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaggcatctcgcctaggaGattcttgacgagctttggca	9	10	12	10	2	2	3	0	1	2	2	3	5	2	3	1	3	1	3	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:176965998G>A	ENST00000443375.2	-	3	1580	c.22C>T	c.(22-24)Ctc>Ttc	p.L8F	FAM193B_ENST00000329540.5_5'UTR|FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000514747.1_Missense_Mutation_p.L121F			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	0										kidney(1)|large_intestine(3)	4						TCGCCTAGGAGATTCTTGACG	0.552													A	176965998	G	A	176965998	3	1	364	1	0	0	0	0	1	0	0	0	5572	942	33	2	2379	2	FAM193B	5	176965998	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26200	176965998	3949262	4979	28481											
RMND5B	64777	broad.mit.edu	37	chr5	177571012	177571012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttcaagctgcaccgactGcacttcatccgcctcttggc	7	10	9	15	2	3	0	2	0	1	0	4	2	4	0	3	1	3	4	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:177571012G>A	ENST00000515098.1	+	8	948	c.597G>A	c.(595-597)ctG>ctA	p.L199L	RMND5B_ENST00000313386.4_Silent_p.L199L|RMND5B_ENST00000542098.1_Silent_p.L186L			Q96G75	RMD5B_HUMAN	required for meiotic nuclear division 5 homolog B (S. cerevisiae)	199	CTLH.									endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	17	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGCACCGACTGCACTTCATCC	0.632													A	177571012	G	A	177571012	2	1	364	1	0	0	0	0	0	0	0	1	13489	1306	46	2		2	RMND5B	5	177571012	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	605014	177571012	3344248	4980	28482											
ZNF354A	6940	broad.mit.edu	37	chr5	178139101	178139101	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaattttataatgattagtaAgggatgacctatggttgaaa	15	14	10	2	0	0	3	0	3	0	0	0	5	0	4	1	2	0	2	1	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178139101A>T	ENST00000335815.2	-	5	1975	c.1778T>A	c.(1777-1779)cTt>cAt	p.L593H		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	593					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		ATGATTAGTAAGGGATGACCT	0.368													T	178139101	A	T	178139101	3	4	364	1	0	0	0	0	1	0	0	0	17965	72	3	5	43	5	ZNF354A	5	178139101	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	568089	178139101	2776159	4981	28483											
ZNF354A	6940	broad.mit.edu	37	chr5	178140504	178140504	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctgccttcatatatgtaAggcttttctaatttcaaatc	12	17	4	8	0	4	0	2	0	2	0	5	0	4	0	1	1	1	2	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178140504A>C	ENST00000335815.2	-	5	572	c.375T>G	c.(373-375)ccT>ccG	p.P125P		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	125					regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CATATATGTAAGGCTTTTCTA	0.378													C	178140504	A	C	178140504	2	2	364	1	0	0	0	0	0	0	0	1	17965	59	3	5		5	ZNF354A	5	178140504	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1403	178140504	2774756	4982	28484											
ZNF354B	117608	broad.mit.edu	37	chr5	178310185	178310185	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaaaaattatttaaatgTaaagaatgtttaaaagcttt	19	14	7	1	0	0	2	0	0	0	2	0	3	0	2	0	1	1	3	0	1	10	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310185T>C	ENST00000322434.3	+	5	958	c.732T>C	c.(730-732)tgT>tgC	p.C244C		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	244					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TATTTAAATGTAAAGAATGTT	0.333													C	178310185	T	C	178310185	2	2	364	1	0	0	0	0	0	0	0	1	17966	1644	57	3		3	ZNF354B	5	178310185	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	169681	178310185	2605075	4983	28485											
ZNF354B	117608	broad.mit.edu	37	chr5	178310441	178310441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaatccccataaatacaatCcaggcaggaaggcatccagt	17	6	7	11	0	0	0	0	0	0	0	3	1	3	1	4	3	1	2	4	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310441C>T	ENST00000322434.3	+	5	1214	c.988C>T	c.(988-990)Cca>Tca	p.P330S		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	330					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAAATACAATCCAGGCAGGAA	0.388													T	178310441	C	T	178310441	3	4	364	1	0	0	0	0	1	0	0	0	17966	855	30	2	1002	2	ZNF354B	5	178310441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	256	178310441	2604819	4984	28486											
ZNF354B	117608	broad.mit.edu	37	chr5	178310634	178310634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagagccttcagccagaGtgcctctcttattcaacatg	9	11	10	11	0	3	2	2	0	1	2	4	3	3	2	3	1	4	0	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178310634G>T	ENST00000322434.3	+	5	1407	c.1181G>T	c.(1180-1182)aGt>aTt	p.S394I		NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	394					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCAGCCAGAGTGCCTCTCTT	0.408													T	178310634	G	T	178310634	3	4	364	1	0	0	0	0	1	0	0	0	17966	1029	36	4	1195	4	ZNF354B	5	178310634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193	178310634	2604626	4985	28487											
ZNF354B	117608	broad.mit.edu	37	chr5	178311162	178311162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacttattgcacatcaaaGaattcatactggagagaaac	17	10	6	8	0	3	2	3	0	0	2	3	4	3	3	0	1	3	1	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178311162G>T	ENST00000322434.3	+	5	1935	c.1709G>T	c.(1708-1710)aGa>aTa	p.R570I	ZNF354B_ENST00000522714.1_3'UTR	NM_058230.2	NP_478137.1	Q96LW1	Z354B_HUMAN	zinc finger protein 354B	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(7)|liver(2)|lung(2)|ovary(2)|stomach(3)|urinary_tract(1)	21	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACATCAAAGAATTCATACT	0.343													T	178311162	G	T	178311162	3	4	364	1	0	0	0	0	1	0	0	0	17966	942	33	4	1723	4	ZNF354B	5	178311162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	528	178311162	2604098	4986	28488											
ZFP2	80108	broad.mit.edu	37	chr5	178358812	178358812	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgaatgtgggaaagcCtttagtcagagcatgaatct	13	12	11	5	0	2	3	1	2	1	1	2	4	2	4	1	1	2	2	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178358812C>A	ENST00000361362.2	+	5	1028	c.498C>A	c.(496-498)gcC>gcA	p.A166A	ZFP2_ENST00000523286.1_Silent_p.A166A|ZFP2_ENST00000503510.2_Silent_p.A166A|ZFP2_ENST00000520301.1_Silent_p.A166A	NM_030613.2	NP_085116.2	Q6ZN57	ZFP2_HUMAN	ZFP2 zinc finger protein	166					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	20	all_cancers(89;0.000639)|all_epithelial(37;0.000109)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.00655)|GBM - Glioblastoma multiforme(465;0.0302)|OV - Ovarian serous cystadenocarcinoma(192;0.0615)|Epithelial(171;0.111)		GTGGGAAAGCCTTTAGTCAGA	0.403													A	178358812	C	A	178358812	2	1	364	1	0	0	0	0	0	0	0	1	17742	668	24	4		4	ZFP2	5	178358812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47650	178358812	2556448	4987	28489											
GRM6	2916	broad.mit.edu	37	chr5	178416035	178416035	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagggcagagcgcctggtGcatgctgtggagggcgtggg	5	6	20	10	2	0	1	0	0	0	1	0	2	0	2	2	5	3	3	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178416035G>A	ENST00000231188.5	-	6	1433	c.1255C>T	c.(1255-1257)Cac>Tac	p.H419Y	GRM6_ENST00000517717.1_Missense_Mutation_p.H419Y|RP11-281O15.4_ENST00000519491.1_RNA	NM_000843.3	NP_000834.2	O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	419					detection of visible light|visual perception	integral to plasma membrane				NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		AGCGCCTGGTGCATGCTGTGG	0.627													A	178416035	G	A	178416035	3	1	364	1	0	0	0	0	1	0	0	0	6856	1319	46	2	1398	2	GRM6	5	178416035	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57223	178416035	2499225	4988	28490											
ADAMTS2	9509	broad.mit.edu	37	chr5	178559886	178559886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctggagccgatcacacCgtcacagcccaccttctgtt	7	10	8	16	2	3	0	2	0	1	0	3	2	3	1	4	1	3	2	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178559886C>T	ENST00000251582.7	-	14	2202	c.2101G>A	c.(2101-2103)Ggt>Agt	p.G701S		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	701	Cys-rich.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGATCACACCGTCACAGCCC	0.582													T	178559886	C	T	178559886	3	4	364	1	0	0	0	0	1	0	0	0	265	652	23	1	1570	1	ADAMTS2	5	178559886	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143851	178559886	2355374	4989	28491											
RUFY1	80230	broad.mit.edu	37	chr5	178996388	178996388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactcaatgttctcgatGccaatctctgcttgaaagga	10	12	10	9	1	3	1	1	1	2	0	5	4	3	3	1	2	2	2	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:178996388G>A	ENST00000377001.2	+	5	790	c.790G>A	c.(790-792)Gcc>Acc	p.A264T	RUFY1_ENST00000437570.2_Missense_Mutation_p.A156T|RUFY1_ENST00000319449.4_Missense_Mutation_p.A264T|RUFY1_ENST00000393438.2_Missense_Mutation_p.A156T			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	264	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGTTCTCGATGCCAATCTCTG	0.443										HNSCC(44;0.11)			A	178996388	G	A	178996388	3	1	364	1	0	0	0	0	1	0	0	0	13829	1319	46	2	808	2	RUFY1	5	178996388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	436502	178996388	1918872	4990	28492											
HNRNPH1	3187	broad.mit.edu	37	chr5	179042596	179042596	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttcctgtaaaacttggTctgcaaaaggattttgtagg	11	15	10	5	0	1	0	0	0	1	0	2	1	2	1	1	3	2	4	1	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179042596T>C	ENST00000356731.5	-	12	2836	c.1301A>G	c.(1300-1302)gAc>gGc	p.D434G	HNRNPH1_ENST00000510411.1_Splice_Site_p.D414G|HNRNPH1_ENST00000511300.2_Splice_Site_p.D144G|HNRNPH1_ENST00000393432.4_Splice_Site_p.D434G|HNRNPH1_ENST00000442819.2_Splice_Site_p.D434G|HNRNPH1_ENST00000329433.6_Intron			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	434					regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TAAAACTTGGTCTGCAAAAGG	0.289													C	179042596	T	C	179042596	5	2	364	1	0	0	0	0	0	0	1	0	7321	1681	58	3	52	3	HNRNPH1	5	179042596	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46208	179042596	1872664	4991	28493											
CANX	821	broad.mit.edu	37	chr5	179143190	179143190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatgacatgactcctcCtgtaaatccttcacgtgaaa	12	11	6	12	1	2	3	2	3	0	0	5	3	5	3	3	0	0	2	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179143190C>A	ENST00000247461.4	+	8	1006	c.806C>A	c.(805-807)cCt>cAt	p.P269H	CANX_ENST00000503126.1_3'UTR|CANX_ENST00000504734.1_Missense_Mutation_p.P269H|CANX_ENST00000512607.2_Missense_Mutation_p.P161H|CANX_ENST00000415618.2_Missense_Mutation_p.P304H|CANX_ENST00000452673.2_Missense_Mutation_p.P269H	NM_001746.3	NP_001737.1	P27824	CALX_HUMAN	calnexin	269					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein secretion	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane|melanosome	calcium ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|prostate(2)|urinary_tract(3)	22	all_cancers(89;0.000129)|all_epithelial(37;5.59e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0413)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGACTCCTCCTGTAAATCCT	0.423													A	179143190	C	A	179143190	3	1	364	1	0	0	0	0	1	0	0	0	2644	681	24	4	832	4	CANX	5	179143190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100594	179143190	1772070	4992	28494											
MAML1	9794	broad.mit.edu	37	chr5	179192400	179192400	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcgatcaacagaatggctAcggggacctctttcctgggc	8	9	13	11	2	2	1	1	0	1	1	3	3	3	2	2	5	2	1	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179192400A>G	ENST00000292599.3	+	2	652	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	130					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CAGAATGGCTACGGGGACCTC	0.522													G	179192400	A	G	179192400	3	3	364	1	0	0	0	0	1	0	0	0	9280	391	14	3	395	3	MAML1	5	179192400	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49210	179192400	1722860	4993	28495											
SQSTM1	8878	broad.mit.edu	37	chr5	179250876	179250876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaaaaaagagtgccggcGggaccaccgcccaccgtgtg	12	3	14	12	4	0	2	0	0	0	2	0	4	0	3	5	2	1	0	5	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179250876G>A	ENST00000389805.4	+	3	498	c.320G>A	c.(319-321)cGg>cAg	p.R107Q	SQSTM1_ENST00000402874.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000376929.3_Missense_Mutation_p.R23Q|SQSTM1_ENST00000360718.5_Missense_Mutation_p.R23Q|SQSTM1_ENST00000510187.1_Missense_Mutation_p.R107Q	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	107	Interaction with PRKCZ and dimerization (By similarity).				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGTGCCGGCGGGACCACCGC	0.622													A	179250876	G	A	179250876	3	1	364	1	0	0	0	0	1	0	0	0	15226	1116	39	1	330	1	SQSTM1	5	179250876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58476	179250876	1664384	4994	28496											
C5orf45	51149	broad.mit.edu	37	chr5	179264753	179264753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccatttagaggatgtggCtgtaacctgctggatgggac	8	10	14	9	1	0	1	0	0	0	1	0	4	0	4	2	4	2	3	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179264753C>A	ENST00000292586.6	-	7	760	c.670G>T	c.(670-672)Gcc>Tcc	p.A224S	SQSTM1_ENST00000389805.4_3'UTR|SQSTM1_ENST00000376929.3_3'UTR|C5orf45_ENST00000376931.2_Missense_Mutation_p.A169S|C5orf45_ENST00000403396.2_Intron|C5orf45_ENST00000518219.1_3'UTR|C5orf45_ENST00000521333.1_Missense_Mutation_p.S110I|C5orf45_ENST00000523267.1_5'UTR|C5orf45_ENST00000523084.1_Missense_Mutation_p.A90S|C5orf45_ENST00000520698.1_Intron|C5orf45_ENST00000518235.1_Intron	NM_016175.3	NP_057259.2	Q6NTE8	CE045_HUMAN	chromosome 5 open reading frame 45	224										breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12						GAGGATGTGGCTGTAACCTGC	0.587													A	179264753	C	A	179264753	3	1	364	1	0	0	0	0	1	0	0	0	2326	797	28	4	365	4	C5orf45	5	179264753	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13877	179264753	1650507	4995	28497											
TBC1D9B	23061	broad.mit.edu	37	chr5	179292287	179292287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatccttaatcgtctcCttctgagcctctttctcctt	6	16	6	13	1	4	2	0	1	4	1	8	3	5	3	4	1	1	0	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179292287C>A	ENST00000356834.3	-	21	3076	c.3039G>T	c.(3037-3039)aaG>aaT	p.K1013N	TBC1D9B_ENST00000518085.1_5'UTR|TBC1D9B_ENST00000355235.3_Missense_Mutation_p.K996N|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.K154N|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.K172N	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	1013						integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TAATCGTCTCCTTCTGAGCCT	0.517													A	179292287	C	A	179292287	3	1	364	1	0	0	0	0	1	0	0	0	15728	680	24	4	721	4	TBC1D9B	5	179292287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27534	179292287	1622973	4996	28498											
RNF130	55819	broad.mit.edu	37	chr5	179440075	179440075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctggttcctgtcgcGtgcatttgtgtacctgatct	4	15	10	12	2	2	1	1	1	1	0	4	1	3	1	3	1	2	4	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179440075G>A	ENST00000522208.2	-	3	697	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	RNF130_ENST00000261947.4_Missense_Mutation_p.R227C|RNF130_ENST00000521389.1_Missense_Mutation_p.R227C			Q86XS8	GOLI_HUMAN	ring finger protein 130	227					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGTCGCGTGCATTTGTG	0.413													A	179440075	G	A	179440075	3	1	364	1	0	0	0	0	1	0	0	0	13529	1145	40	1	608	1	RNF130	5	179440075	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147788	179440075	1475185	4997	28499											
GFPT2	9945	broad.mit.edu	37	chr5	179743862	179743862	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagccacccaggagcaCtgcagggcacacgacaaggc	12	3	11	15	1	1	0	1	0	0	0	1	2	1	1	2	3	3	3	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:179743862C>A	ENST00000253778.8	-	12	1224		c.e12-1		GFPT2_ENST00000520165.1_Splice_Site	NM_005110.2	NP_005101.1	O94808	GFPT2_HUMAN	glutamine-fructose-6-phosphate transaminase 2						dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34	all_cancers(89;4.97e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	Medulloblastoma(196;0.0392)|all_neural(177;0.0529)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		L-Glutamine(DB00130)	CCCAGGAGCACTGCAGGGCAC	0.587													A	179743862	C	A	179743862	5	1	364	1	0	0	0	0	0	0	1	0	6402	579	20	4	1026	4	GFPT2	5	179743862	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303787	179743862	1171398	4998	28500											
FLT4	2324	broad.mit.edu	37	chr5	180035977	180035977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccttacctgaagccgCtttcttgtctatgcctgctc	6	13	8	14	1	2	1	0	1	2	0	3	2	2	1	4	0	5	2	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180035977C>T	ENST00000261937.6	-	29	3962	c.3884G>A	c.(3883-3885)aGc>aAc	p.S1295N	FLT4_ENST00000393347.3_Missense_Mutation_p.S1295N|FLT4_ENST00000502649.1_Missense_Mutation_p.S1295N	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1295					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTGAAGCCGCTTTCTTGTCT	0.602													T	180035977	C	T	180035977	3	4	364	1	0	0	0	0	1	0	0	0	5993	797	28	2	223	2	FLT4	5	180035977	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292115	180035977	879283	4999	28501											
FLT4	2324	broad.mit.edu	37	chr5	180049799	180049799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaccacacacttgtacatgGcagacacgttggcattctgg	11	9	10	11	1	1	2	0	0	1	2	1	2	1	2	1	3	1	4	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180049799G>A	ENST00000261937.6	-	12	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	FLT4_ENST00000393347.3_Missense_Mutation_p.A530V|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.A530V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	530	Ig-like C2-type 5.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTGTACATGGCAGACACGTT	0.577													A	180049799	G	A	180049799	3	1	364	1	0	0	0	0	1	0	0	0	5993	1203	42	2	2586	2	FLT4	5	180049799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13822	180049799	865461	5000	28502											
MGAT1	4245	broad.mit.edu	37	chr5	180218882	180218882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcagctggggagcacCgtagacgcgggcgaggaaat	10	4	16	11	4	0	1	0	0	0	1	0	4	0	3	2	4	3	4	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218882C>T	ENST00000446023.2	-	3	1840	c.1090G>A	c.(1090-1092)Ggt>Agt	p.G364S	MGAT1_ENST00000333055.3_Missense_Mutation_p.G364S|MGAT1_ENST00000427865.2_Missense_Mutation_p.G364S|MGAT1_ENST00000307826.4_Missense_Mutation_p.G364S|MGAT1_ENST00000393340.3_Missense_Mutation_p.G364S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	364					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGGGAGCACCGTAGACGCGG	0.587													T	180218882	C	T	180218882	3	4	364	1	0	0	0	0	1	0	0	0	9617	652	23	1	251	1	MGAT1	5	180218882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169083	180218882	696378	5001	28503											
MGAT1	4245	broad.mit.edu	37	chr5	180218899	180218899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtagacgcgggcgaggAaatctcggtcataggcctcc	9	6	13	13	5	2	1	1	0	1	1	4	3	3	2	3	4	0	1	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180218899A>G	ENST00000446023.2	-	3	1823	c.1073T>C	c.(1072-1074)tTc>tCc	p.F358S	MGAT1_ENST00000333055.3_Missense_Mutation_p.F358S|MGAT1_ENST00000427865.2_Missense_Mutation_p.F358S|MGAT1_ENST00000307826.4_Missense_Mutation_p.F358S|MGAT1_ENST00000393340.3_Missense_Mutation_p.F358S	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCGGGCGAGGAAATCTCGGTC	0.587													G	180218899	A	G	180218899	3	3	364	1	0	0	0	0	1	0	0	0	9617	246	9	3	268	3	MGAT1	5	180218899	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17	180218899	696361	5002	28504											
BTNL8	79908	broad.mit.edu	37	chr5	180335749	180335749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctctacagggacgggaaGgaccagccatttatgcagat	12	7	11	11	1	1	1	0	0	1	1	1	4	1	4	3	3	3	1	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180335749G>T	ENST00000231229.4	+	2	447	c.213G>T	c.(211-213)aaG>aaT	p.K71N	BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.K71N|BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000340184.4_Missense_Mutation_p.K71N	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	71	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGACGGGAAGGACCAGCCAT	0.527													T	180335749	G	T	180335749	3	4	364	1	0	0	0	0	1	0	0	0	1577	991	35	4	245	4	BTNL8	5	180335749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116850	180335749	579511	5003	28505											
BTNL8	79908	broad.mit.edu	37	chr5	180377169	180377169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actttgtctcccgatcatggGtactgggtcctcagactgaa	8	12	10	11	1	3	2	2	1	1	1	5	3	4	2	2	2	1	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180377169G>A	ENST00000340184.4	+	8	1334	c.1128G>A	c.(1126-1128)ggG>ggA	p.G376G	BTNL8_ENST00000505126.1_Silent_p.G169G|BTNL8_ENST00000533815.2_Silent_p.G192G|BTNL8_ENST00000231229.4_3'UTR|BTNL8_ENST00000508408.1_3'UTR|BTNL8_ENST00000511704.1_Silent_p.G260G|BTNL8_ENST00000400707.3_Silent_p.G251G	NM_001040462.2	NP_001035552.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	376	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCGATCATGGGTACTGGGTCC	0.517													A	180377169	G	A	180377169	2	1	364	1	0	0	0	0	0	0	0	1	1577	1248	44	2		2	BTNL8	5	180377169	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41420	180377169	538091	5004	28506											
BTNL3	10917	broad.mit.edu	37	chr5	180419996	180419996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgggaatctaagcagaTgccacagtatcgagggagaa	15	6	13	7	1	1	3	0	0	1	3	2	6	1	4	1	2	2	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180419996T>C	ENST00000342868.6	+	2	417	c.233T>C	c.(232-234)aTg>aCg	p.M78T		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	78					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			TCTAAGCAGATGCCACAGTAT	0.527													C	180419996	T	C	180419996	3	2	364	1	0	0	0	0	1	0	0	0	1576	1464	51	3	239	3	BTNL3	5	180419996	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42827	180419996	495264	5005	28507											
OR2V2	285659	broad.mit.edu	37	chr5	180582541	180582541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccctgtttgagaaggtgaTatttgcttgctgtgtcttca	7	17	10	7	0	2	2	1	2	1	1	3	3	3	2	1	1	2	3	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180582541T>C	ENST00000328275.1	+	1	599	c.599T>C	c.(598-600)aTa>aCa	p.I200T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGAAGGTGATATTTGCTTGC	0.483													C	180582541	T	C	180582541	3	2	364	1	0	0	0	0	1	0	0	0	11107	1406	49	3	601	3	OR2V2	5	180582541	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	162545	180582541	332719	5006	28508											
TRIM41	90933	broad.mit.edu	37	chr5	180660724	180660724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcctgacagatgccatcGtgaggaaaatgagccggatg	12	8	12	9	2	0	4	0	3	0	1	2	6	1	6	3	2	2	0	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180660724G>A	ENST00000315073.5	+	5	1962	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	TRIM41_ENST00000351937.5_Missense_Mutation_p.V418M|TRIM41_ENST00000510072.1_3'UTR	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	418	B30.2/SPRY.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATGCCATCGTGAGGAAAAT	0.587													A	180660724	G	A	180660724	3	1	364	1	0	0	0	0	1	0	0	0	16617	1145	40	1	1270	1	TRIM41	5	180660724	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78183	180660724	254536	5007	28509											
GNB2L1	10399	broad.mit.edu	37	chr5	180665164	180665164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttagggctgaagcacagggCgttgatgatgtccccaccat	9	9	13	10	1	0	3	0	3	0	0	1	3	1	3	3	2	1	4	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr5:180665164C>T	ENST00000512805.1	-	6	1120	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	GNB2L1_ENST00000511900.1_Missense_Mutation_p.A190T|GNB2L1_ENST00000511566.1_Intron|GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Missense_Mutation_p.A194T|GNB2L1_ENST00000514455.1_Missense_Mutation_p.A22T	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	238					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		AAGCACAGGGCGTTGATGATG	0.542													T	180665164	C	T	180665164	3	4	364	1	0	0	0	0	1	0	0	0	6574	768	27	1	253	1	GNB2L1	5	180665164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4440	180665164	250096	5008	28510											
DUSP22	56940	broad.mit.edu	37	chr6	335150	335150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcatcccagcagcggattcaCcatctcaaaacctgtaagtt	12	9	7	13	1	2	0	2	0	1	0	4	1	3	1	3	1	3	4	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:335150C>T	ENST00000419235.2	+	4	253	c.175C>T	c.(175-177)Cca>Tca	p.P59S	DUSP22_ENST00000604971.1_Intron|DUSP22_ENST00000344450.5_Missense_Mutation_p.P59S|DUSP22_ENST00000605863.1_Intron|DUSP22_ENST00000603290.1_3'UTR|DUSP22_ENST00000603453.1_5'UTR|DUSP22_ENST00000605035.1_Intron|DUSP22_ENST00000605315.1_Intron			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	59					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCGGATTCACCATCTCAAAA	0.323													T	335150	C	T	335150	3	4	364	1	0	0	0	0	1	0	0	0	4860	507	18	2	189	2	DUSP22	6	335150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		335150	170779917	5009	28511											
IRF4	3662	broad.mit.edu	37	chr6	401645	401645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggatggcccccgacGggctctatgcgaaaagactg	8	8	12	13	3	2	1	0	0	2	1	3	4	3	2	3	3	1	1	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:401645G>A	ENST00000380956.4	+	7	1093	c.967G>A	c.(967-969)Ggg>Agg	p.G323R		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	323					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.G323R(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		GGCCCCCGACGGGCTCTATGC	0.612			T	IGH@	MM								A	401645	G	A	401645	3	1	364	1	0	0	0	0	1	0	0	0	7890	1116	39	1	989	1	IRF4	6	401645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66495	401645	170713422	5010	28512											
EXOC2	55770	broad.mit.edu	37	chr6	491132	491132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgccacttacttgctttCgggtgtcaggtaaacagcca	9	11	9	12	1	1	0	1	0	0	0	2	0	1	0	2	2	5	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:491132C>T	ENST00000230449.4	-	26	2749	c.2614G>A	c.(2614-2616)Gaa>Aaa	p.E872K	EXOC2_ENST00000448181.3_Missense_Mutation_p.E467K	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	872					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		TACTTGCTTTCGGGTGTCAGG	0.383													T	491132	C	T	491132	3	4	364	1	0	0	0	0	1	0	0	0	5343	893	31	1	172	1	EXOC2	6	491132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89487	491132	170623935	5011	28513											
EXOC2	55770	broad.mit.edu	37	chr6	553879	553879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctgaagtcttcatggAtacttccaaacaagtcaggg	13	10	9	9	0	4	1	3	1	1	0	5	2	5	2	1	2	3	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:553879A>G	ENST00000230449.4	-	21	2231	c.2096T>C	c.(2095-2097)aTc>aCc	p.I699T	EXOC2_ENST00000448181.3_Missense_Mutation_p.I294T	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	699					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		GTCTTCATGGATACTTCCAAA	0.358													G	553879	A	G	553879	3	3	364	1	0	0	0	0	1	0	0	0	5343	333	12	3	710	3	EXOC2	6	553879	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62747	553879	170561188	5012	28514											
HUS1B	135458	broad.mit.edu	37	chr6	656183	656183	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagaagagtattgtcccaAatattgcacagggccgtcgt	12	10	11	8	2	0	3	0	1	0	2	2	3	1	3	2	1	1	2	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656183A>G	ENST00000380907.2	-	1	780	c.762T>C	c.(760-762)atT>atC	p.I254I	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	254										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		TATTGTCCCAAATATTGCACA	0.443													G	656183	A	G	656183	2	3	364	1	0	0	0	0	0	0	0	1	7518	10	1	3		3	HUS1B	6	656183	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	102304	656183	170458884	5013	28515											
HUS1B	135458	broad.mit.edu	37	chr6	656869	656869	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgcagaccttcgctaGcctcgcgacggtgccgctga	7	6	13	15	6	0	2	0	1	0	1	2	4	0	2	3	1	3	4	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:656869G>A	ENST00000380907.2	-	1	94	c.76C>T	c.(76-78)Cta>Tta	p.L26L	EXOC2_ENST00000230449.4_Intron|EXOC2_ENST00000448181.3_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	26										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		ACCTTCGCTAGCCTCGCGACG	0.667													A	656869	G	A	656869	2	1	364	1	0	0	0	0	0	0	0	1	7518	962	34	2		2	HUS1B	6	656869	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	686	656869	170458198	5014	28516											
FOXQ1	94234	broad.mit.edu	37	chr6	1313531	1313531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaactactggatgctcaacCccaacagcgagtacaccttc	13	7	6	15	1	1	0	1	0	0	0	2	2	1	1	3	1	7	2	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1313531C>T	ENST00000296839.2	+	1	857	c.592C>T	c.(592-594)Ccc>Tcc	p.P198S		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	198					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GATGCTCAACCCCAACAGCGA	0.701													T	1313531	C	T	1313531	3	4	364	1	0	0	0	0	1	0	0	0	6081	623	22	2	594	2	FOXQ1	6	1313531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	656662	1313531	169801536	5015	28517											
FOXF2	2295	broad.mit.edu	37	chr6	1390670	1390671	+	Frame_Shift_Ins	INS	-	-	G																															tgcttcatcaagctgcctaaINSgggcctcgggcggcccggca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1390670_1390671insG	ENST00000259806.1	+	1	602_603	c.488_489insG	c.(487-492)aagggcfs	p.KG163fs		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	163					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		AAGCTGCCTAAGGGCCTCGGGC	0.673													G	1390671	-	G	1390670	7	5	364	1	0	1	1	0	0	0	0	0	6057	72	3	0	490	0	FOXF2	6	1390670	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	77139	1390670	169724397	5016	28518											
FOXF2	2295	broad.mit.edu	37	chr6	1394964	1394964	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagcatcactctactcCagtgtgtgacagaaaagatt	13	11	7	10	0	2	3	1	1	1	2	3	3	3	3	2	0	3	1	2	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1394964C>A	ENST00000259806.1	+	2	1319	c.1205C>A	c.(1204-1206)cCa>cAa	p.P402Q		NM_001452.1	NP_001443.1	Q12947	FOXF2_HUMAN	forkhead box F2	402					epithelial to mesenchymal transition|genitalia development|palate development|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			large_intestine(2)|lung(5)|prostate(1)	8	Ovarian(93;0.0733)	all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.095)		CACTCTACTCCAGTGTGTGAC	0.463													A	1394964	C	A	1394964	3	1	364	1	0	0	0	0	1	0	0	0	6057	594	21	4	1211	4	FOXF2	6	1394964	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4294	1394964	169720103	5017	28519											
FOXC1	2296	broad.mit.edu	37	chr6	1610942	1610942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctacatcgcgctcatcAccatggccatccagaacgcc	11	7	7	16	3	2	1	2	0	0	1	4	1	3	1	4	1	3	2	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:1610942A>G	ENST00000380874.2	+	1	262	c.262A>G	c.(262-264)Acc>Gcc	p.T88A		NM_001453.2	NP_001444.2	Q12948	FOXC1_HUMAN	forkhead box C1	88					anti-apoptosis|artery morphogenesis|blood vessel remodeling|brain development|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|germ cell migration|glycosaminoglycan metabolic process|lacrimal gland development|lymphangiogenesis|metanephros development|negative regulation of mitotic cell cycle|neural crest cell fate commitment|Notch signaling pathway|odontogenesis of dentine-containing tooth|ossification|ovarian follicle development|paraxial mesodermal cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	nuclear heterochromatin|transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8	Ovarian(93;0.0733)	all_cancers(2;4.45e-07)|all_epithelial(2;4.33e-05)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		Epithelial(2;0.0904)|OV - Ovarian serous cystadenocarcinoma(45;0.095)|all cancers(2;0.168)		CGCGCTCATCACCATGGCCAT	0.632													G	1610942	A	G	1610942	3	3	364	1	0	0	0	0	1	0	0	0	6043	159	6	3	264	3	FOXC1	6	1610942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	215978	1610942	169504125	5018	28520											
SERPINB1	1992	broad.mit.edu	37	chr6	2836162	2836162	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctgagctcctcgccttgGtaaggcagttccagcacacg	8	9	11	13	2	0	1	0	1	0	0	3	1	2	1	3	2	3	6	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2836162G>A	ENST00000380739.5	-	6	865	c.663C>T	c.(661-663)taC>taT	p.Y221Y	SERPINB1_ENST00000537185.1_Silent_p.Y70Y	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	221					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CCTCGCCTTGGTAAGGCAGTT	0.488													A	2836162	G	A	2836162	2	1	364	1	0	0	0	0	0	0	0	1	14189	1256	44	2		2	SERPINB1	6	2836162	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1225220	2836162	168278905	5019	28521											
SERPINB1	1992	broad.mit.edu	37	chr6	2840777	2840777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactcaacgccaggaacAggtccaaggcgaagcgggtg	11	5	13	12	3	2	0	2	0	1	0	4	2	3	1	2	4	3	0	2	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2840777A>G	ENST00000380739.5	-	2	246	c.44T>C	c.(43-45)cTg>cCg	p.L15P	SERPINB1_ENST00000537185.1_5'UTR|SERPINB1_ENST00000476896.1_5'UTR	NM_030666.3	NP_109591.1	P30740	ILEU_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 1	15					regulation of proteolysis	cytoplasm|extracellular space	serine-type endopeptidase inhibitor activity			breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(2)|ovary(2)	13	Ovarian(93;0.0412)			OV - Ovarian serous cystadenocarcinoma(45;0.0717)		CGCCAGGAACAGGTCCAAGGC	0.547													G	2840777	A	G	2840777	3	3	364	1	0	0	0	0	1	0	0	0	14189	188	7	3	1119	3	SERPINB1	6	2840777	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4615	2840777	168274290	5020	28522											
SERPINB9	5272	broad.mit.edu	37	chr6	2890440	2890440	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacagaatgctgttggctCtgttgtgcctgatgaagaaa	12	11	12	6	0	1	5	0	2	1	3	1	5	1	5	1	1	3	4	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:2890440C>A	ENST00000380698.4	-	7	1177	c.1088G>T	c.(1087-1089)aGa>aTa	p.R363I		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	363					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				GCTGTTGGCTCTGTTGTGCCT	0.552													A	2890440	C	A	2890440	3	1	364	1	0	0	0	0	1	0	0	0	14201	913	32	4	46	4	SERPINB9	6	2890440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49663	2890440	168224627	5021	28523											
NQO2	4835	broad.mit.edu	37	chr6	3019874	3019874	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcccctgcacagcccactgGcacttcgggcaataactctg	9	8	8	16	1	1	0	0	0	1	0	3	0	2	0	3	2	3	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3019874G>A	ENST00000338130.2	+	10	1393	c.681G>A	c.(679-681)tgG>tgA	p.W227*	NQO2_ENST00000380441.1_Nonsense_Mutation_p.W189*|NQO2_ENST00000380455.4_Nonsense_Mutation_p.W227*|NQO2_ENST00000380430.1_Nonsense_Mutation_p.W227*|NQO2_ENST00000380454.4_Nonsense_Mutation_p.W189*			P16083	NQO2_HUMAN	NAD(P)H dehydrogenase, quinone 2	227						cytoplasm|nucleus	coenzyme binding|dihydronicotinamide riboside quinone reductase activity|electron carrier activity|metal ion binding|NADPH dehydrogenase (quinone) activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	7	Ovarian(93;0.0412)	all_hematologic(90;0.0895)			Menadione(DB00170)|NADH(DB00157)	CAGCCCACTGGCACTTCGGGC	0.552													A	3019874	G	A	3019874	4	1	364	1	0	0	0	0	0	1	0	0	10688	1212	42	2	703	2	NQO2	6	3019874	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129434	3019874	168095193	5022	28524											
RIPK1	8737	broad.mit.edu	37	chr6	3111146	3111146	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactagacagcacaaatacGaacttcaaagaagagccagc	18	5	7	11	1	1	3	1	0	0	3	1	4	1	3	1	0	6	1	1	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3111146G>A	ENST00000259808.4	+	10	1984	c.1686G>A	c.(1684-1686)acG>acA	p.T562T	RIPK1_ENST00000541791.1_Silent_p.T516T|RIPK1_ENST00000380409.2_Silent_p.T562T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	562	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GCACAAATACGAACTTCAAAG	0.408													A	3111146	G	A	3111146	2	1	364	1	0	0	0	0	0	0	0	1	13471	1045	37	1		1	RIPK1	6	3111146	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91272	3111146	168003921	5023	28525											
SLC22A23	63027	broad.mit.edu	37	chr6	3410478	3410478	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatccttcaaagaacctgAgtgtgctgaacattgtcaca	15	10	7	9	0	2	3	2	2	0	1	3	3	3	3	2	0	3	1	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:3410478A>C	ENST00000436008.2	-	3	1319	c.857T>G	c.(856-858)cTc>cGc	p.L286R	SLC22A23_ENST00000380298.2_Missense_Mutation_p.L286R|SLC22A23_ENST00000406686.3_Missense_Mutation_p.L286R|SLC22A23_ENST00000380302.4_Missense_Mutation_p.L5R|SLC22A23_ENST00000490273.1_Missense_Mutation_p.L5R			A1A5C7	S22AN_HUMAN	solute carrier family 22, member 23	286					ion transport	integral to membrane	transmembrane transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(93;0.0493)	all_hematologic(90;0.0905)				AAAGAACCTGAGTGTGCTGAA	0.463													C	3410478	A	C	3410478	3	2	364	1	0	0	0	0	1	0	0	0	14547	304	11	5	1235	5	SLC22A23	6	3410478	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	299332	3410478	167704589	5024	28526											
PRPF4B	8899	broad.mit.edu	37	chr6	4032437	4032437	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaaagcccatccaaaaGaagtaagtctcaagatcaag	19	7	6	9	0	3	2	2	0	2	2	5	2	4	2	2	0	1	1	2	0	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4032437G>T	ENST00000337659.6	+	2	786	c.686G>T	c.(685-687)aGa>aTa	p.R229I	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R215I	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	229	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				CCATCCAAAAGAAGTAAGTCT	0.383													T	4032437	G	T	4032437	3	4	364	1	0	0	0	0	1	0	0	0	12659	942	33	4	692	4	PRPF4B	6	4032437	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	621959	4032437	167082630	5025	28527											
PRPF4B	8899	broad.mit.edu	37	chr6	4050046	4050046	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtattcagtaatgttgtaCgagccagagataatgcaaga	14	11	11	5	1	1	2	1	0	0	2	1	4	1	2	1	0	3	5	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4050046C>T	ENST00000337659.6	+	9	2207	c.2107C>T	c.(2107-2109)Cga>Tga	p.R703*	PRPF4B_ENST00000538861.1_Nonsense_Mutation_p.R689*	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	703	Protein kinase.					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				TAATGTTGTACGAGCCAGAGA	0.398													T	4050046	C	T	4050046	4	4	364	1	0	0	0	0	0	1	0	0	12659	528	19	1	2141	1	PRPF4B	6	4050046	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17609	4050046	167065021	5026	28528											
CDYL	9425	broad.mit.edu	37	chr6	4892311	4892311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctccatctctctccagccGgaagaacatggacctagcga	11	7	9	14	2	2	1	0	0	2	1	5	4	3	3	4	2	4	1	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4892311G>A	ENST00000328908.5	+	4	682	c.551G>A	c.(550-552)cGg>cAg	p.R184Q	CDYL_ENST00000397588.3_Missense_Mutation_p.R130Q|CDYL_ENST00000449732.2_5'UTR|CDYL_ENST00000472453.1_Intron|CDYL_ENST00000343762.5_5'UTR			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	184					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTCTCCAGCCGGAAGAACATG	0.537													A	4892311	G	A	4892311	3	1	364	1	0	0	0	0	1	0	0	0	3215	1116	39	1	395	1	CDYL	6	4892311	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	842265	4892311	166222756	5027	28529											
CDYL	9425	broad.mit.edu	37	chr6	4952499	4952499	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccactcttcttccttgcaGgcaaacgagatgctgctcag	9	11	8	13	1	3	1	1	0	2	1	5	2	5	1	2	1	4	4	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4952499G>A	ENST00000328908.5	+	8	1625		c.e8-1		CDYL_ENST00000397588.3_Splice_Site|CDYL_ENST00000449732.2_Splice_Site|CDYL_ENST00000472453.1_Splice_Site|CDYL_ENST00000343762.5_Splice_Site			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like						regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		CTTCCTTGCAGGCAAACGAGA	0.562													A	4952499	G	A	4952499	5	1	364	1	0	0	0	0	0	0	1	0	3215	1014	35	2	1354	2	CDYL	6	4952499	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60188	4952499	166162568	5028	28530											
RPP40	10799	broad.mit.edu	37	chr6	4996278	4996278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccactgtgcttggctcaGgacagcaataggttgatatg	10	10	11	10	0	1	1	1	1	0	0	1	2	1	2	2	3	2	4	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996278G>T	ENST00000380051.2	-	7	844	c.800C>A	c.(799-801)cCt>cAt	p.P267H	RPP40_ENST00000319533.5_Missense_Mutation_p.P244H|RPP40_ENST00000464646.1_Missense_Mutation_p.P207H	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	267					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				GCTTGGCTCAGGACAGCAATA	0.383													T	4996278	G	T	4996278	3	4	364	1	0	0	0	0	1	0	0	0	13705	1000	35	4	299	4	RPP40	6	4996278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43779	4996278	166118789	5029	28531											
RPP40	10799	broad.mit.edu	37	chr6	4996525	4996525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggcaggacacctctggcGttccctccagctcgctgctc	4	8	10	19	3	1	0	0	0	1	0	5	1	3	1	4	3	2	5	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:4996525G>A	ENST00000380051.2	-	6	733	c.689C>T	c.(688-690)aCg>aTg	p.T230M	RPP40_ENST00000319533.5_Missense_Mutation_p.T207M|RPP40_ENST00000464646.1_Missense_Mutation_p.T170M	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	230					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				CACCTCTGGCGTTCCCTCCAG	0.567													A	4996525	G	A	4996525	3	1	364	1	0	0	0	0	1	0	0	0	13705	1145	40	1	414	1	RPP40	6	4996525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247	4996525	166118542	5030	28532											
FARS2	10667	broad.mit.edu	37	chr6	5545496	5545496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgacatccctgatatcCgtctcttctggtgtgaggac	7	13	9	12	2	3	2	0	2	3	0	6	4	5	3	2	2	1	0	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:5545496C>T	ENST00000324331.6	+	5	1324	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	FARS2_ENST00000274680.4_Missense_Mutation_p.R330C			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	330					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	CCCTGATATCCGTCTCTTCTG	0.473													T	5545496	C	T	5545496	3	4	364	1	0	0	0	0	1	0	0	0	5727	652	23	1	1002	1	FARS2	6	5545496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	548971	5545496	165569571	5031	28533											
F13A1	2162	broad.mit.edu	37	chr6	6318784	6318784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ataccttgcaggttgacgccCcggggcaccacgccctgaag	8	6	12	15	3	0	2	0	2	0	0	0	2	0	2	5	3	2	3	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:6318784C>T	ENST00000264870.3	-	2	379	c.114G>A	c.(112-114)cgG>cgA	p.R38R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	38		Cleavage; by thrombin; to produce active factor XIII-A.			peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGTTGACGCCCCGGGGCACCA	0.622													T	6318784	C	T	6318784	2	4	364	1	0	0	0	0	0	0	0	1	5382	610	22	2		2	F13A1	6	6318784	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	773288	6318784	164796283	5032	28534											
RREB1	6239	broad.mit.edu	37	chr6	7230522	7230522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggccacccgcaaggatatCgagaagaacatcgagtatgt	15	6	11	9	3	0	2	0	0	0	2	2	5	0	3	2	2	1	2	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7230522C>T	ENST00000379938.2	+	10	2727	c.2190C>T	c.(2188-2190)atC>atT	p.I730I	RREB1_ENST00000349384.6_Silent_p.I730I|RREB1_ENST00000379933.3_Silent_p.I730I|RREB1_ENST00000334984.6_Silent_p.I730I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	730					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GCAAGGATATCGAGAAGAACA	0.617													T	7230522	C	T	7230522	2	4	364	1	0	0	0	0	0	0	0	1	13770	874	31	1		1	RREB1	6	7230522	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	911738	7230522	163884545	5033	28535											
RREB1	6239	broad.mit.edu	37	chr6	7231482	7231482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcggcccaagcccccGctgcttttgccaaagccccc	6	6	8	21	2	0	0	0	0	0	0	0	0	0	0	7	1	5	2	7	1	2	2	rs146203523		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231482G>A	ENST00000379938.2	+	10	3687	c.3150G>A	c.(3148-3150)ccG>ccA	p.P1050P	RREB1_ENST00000349384.6_Silent_p.P1050P|RREB1_ENST00000379933.3_Silent_p.P1050P|RREB1_ENST00000334984.6_Silent_p.P1050P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1050	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCAAGCCCCCGCTGCTTTTGC	0.637													A	7231482	G	A	7231482	2	1	364	1	0	0	0	0	0	0	0	1	13770	1074	38	1		1	RREB1	6	7231482	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960	7231482	163883585	5034	28536											
RREB1	6239	broad.mit.edu	37	chr6	7231795	7231795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtcgaagaagaggggcCggaaaagggggatgaggagc	13	2	20	6	3	0	3	0	1	0	2	1	7	0	6	1	6	1	1	1	6	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7231795C>T	ENST00000379938.2	+	10	4000	c.3463C>T	c.(3463-3465)Cgg>Tgg	p.R1155W	RREB1_ENST00000349384.6_Missense_Mutation_p.R1155W|RREB1_ENST00000379933.3_Missense_Mutation_p.R1155W|RREB1_ENST00000334984.6_Missense_Mutation_p.R1155W	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1155					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAAGAGGGGCCGGAAAAGGGG	0.677													T	7231795	C	T	7231795	3	4	364	1	0	0	0	0	1	0	0	0	13770	643	23	1	3489	1	RREB1	6	7231795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	313	7231795	163883272	5035	28537											
RIOK1	83732	broad.mit.edu	37	chr6	7401281	7401281	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcattagcacaggaaaaGaagtgagctcttctttggat	12	11	11	7	0	2	2	0	1	2	1	2	4	2	4	0	2	3	4	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7401281G>T	ENST00000379834.2	+	6	1078	c.571G>T	c.(571-573)Gaa>Taa	p.E191*		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	191	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					CACAGGAAAAGAAGTGAGCTC	0.338													T	7401281	G	T	7401281	4	4	364	1	0	0	0	0	0	1	0	0	13468	943	33	4	593	4	RIOK1	6	7401281	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169486	7401281	163713786	5036	28538											
RIOK1	83732	broad.mit.edu	37	chr6	7411575	7411575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctctgttaggtgtttaagcGagcatatattcctagaacct	10	15	8	8	1	1	1	0	0	1	1	3	2	2	1	2	1	3	3	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7411575G>A	ENST00000379834.2	+	14	1787	c.1280G>A	c.(1279-1281)cGa>cAa	p.R427Q		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	427	Protein kinase.						ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTGTTTAAGCGAGCATATATT	0.383													A	7411575	G	A	7411575	3	1	364	1	0	0	0	0	1	0	0	0	13468	1058	37	1	1334	1	RIOK1	6	7411575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10294	7411575	163703492	5037	28539											
DSP	1832	broad.mit.edu	37	chr6	7567605	7567605	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctatatggacactctgCagacgcagtggagttggatt	10	10	13	8	1	1	1	0	0	1	1	1	4	1	4	1	4	1	3	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7567605C>T	ENST00000379802.3	+	9	1404	c.1063C>T	c.(1063-1065)Cag>Tag	p.Q355*	DSP_ENST00000418664.2_Nonsense_Mutation_p.Q355*	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	355	Globular 1.|Interacts with plakophilin 1 and junction plakoglobin.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGACACTCTGCAGACGCAGTG	0.413													T	7567605	C	T	7567605	4	4	364	1	0	0	0	0	0	1	0	0	4820	711	25	2	1097	2	DSP	6	7567605	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156030	7567605	163547462	5038	28540											
DSP	1832	broad.mit.edu	37	chr6	7580863	7580863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaccatccaggataaaaaCaaggagatagaaaggttaaa	23	5	8	5	0	0	2	0	0	0	2	1	4	1	3	2	3	2	1	2	3	10	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7580863C>A	ENST00000379802.3	+	23	4781	c.4440C>A	c.(4438-4440)aaC>aaA	p.N1480K	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1480	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGATAAAAACAAGGAGATAG	0.428													A	7580863	C	A	7580863	3	1	364	1	0	0	0	0	1	0	0	0	4820	477	17	4	4530	4	DSP	6	7580863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13258	7580863	163534204	5039	28541											
DSP	1832	broad.mit.edu	37	chr6	7581571	7581571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagagaacctgaccaaggaGcacttgatgttagaagaaga	17	6	11	7	0	0	6	0	2	0	4	0	8	0	7	2	1	2	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581571G>C	ENST00000379802.3	+	23	5489	c.5148G>C	c.(5146-5148)gaG>gaC	p.E1716D	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1716	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGACCAAGGAGCACTTGATGT	0.453													C	7581571	G	C	7581571	3	2	364	1	0	0	0	0	1	0	0	0	4820	962	34	4	5238	4	DSP	6	7581571	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	708	7581571	163533496	5040	28542											
DSP	1832	broad.mit.edu	37	chr6	7581603	7581603	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaagaactgcggaaccTgaggctggagtacgatgacc	14	5	14	8	2	0	5	0	2	0	3	0	8	0	7	2	3	4	2	2	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7581603T>C	ENST00000379802.3	+	23	5521	c.5180T>C	c.(5179-5181)cTg>cCg	p.L1727P	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1727	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CTGCGGAACCTGAGGCTGGAG	0.473													C	7581603	T	C	7581603	3	2	364	1	0	0	0	0	1	0	0	0	4820	1580	55	3	5270	3	DSP	6	7581603	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32	7581603	163533464	5041	28543											
DSP	1832	broad.mit.edu	37	chr6	7583532	7583532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaatccagccattccttCggggtgcaggatctatcgct	8	11	10	12	2	1	1	0	1	1	0	5	2	3	2	3	3	2	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583532C>T	ENST00000379802.3	+	24	6378	c.6037C>T	c.(6037-6039)Cgg>Tgg	p.R2013W	DSP_ENST00000418664.2_Missense_Mutation_p.R1414W	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2013	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GCCATTCCTTCGGGGTGCAGG	0.453													T	7583532	C	T	7583532	3	4	364	1	0	0	0	0	1	0	0	0	4820	875	31	1	6131	1	DSP	6	7583532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1929	7583532	163531535	5042	28544											
DSP	1832	broad.mit.edu	37	chr6	7583670	7583670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcagctacaggtggtataAttgatccccatcggaatgag	12	9	12	8	1	0	2	0	2	0	0	2	3	1	3	2	4	2	3	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583670A>C	ENST00000379802.3	+	24	6516	c.6175A>C	c.(6175-6177)Att>Ctt	p.I2059L	DSP_ENST00000418664.2_Missense_Mutation_p.I1460L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2059	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AGGTGGTATAATTGATCCCCA	0.473													C	7583670	A	C	7583670	3	2	364	1	0	0	0	0	1	0	0	0	4820	101	4	5	6269	5	DSP	6	7583670	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	138	7583670	163531397	5043	28545											
DSP	1832	broad.mit.edu	37	chr6	7583868	7583868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaaccggaatgcgcctgCtggaagcccagattgcttca	11	7	12	11	2	1	2	1	0	0	2	1	5	1	4	3	2	5	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7583868C>T	ENST00000379802.3	+	24	6714	c.6373C>T	c.(6373-6375)Ctg>Ttg	p.L2125L	DSP_ENST00000418664.2_Silent_p.L1526L	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2125	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AATGCGCCTGCTGGAAGCCCA	0.458													T	7583868	C	T	7583868	2	4	364	1	0	0	0	0	0	0	0	1	4820	796	28	2		2	DSP	6	7583868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198	7583868	163531199	5044	28546											
DSP	1832	broad.mit.edu	37	chr6	7584793	7584793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcaactaaaagaaagatGcattaaggatgaggaaacag	19	7	10	5	0	1	3	0	1	1	2	1	5	1	5	0	2	4	2	0	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7584793G>A	ENST00000379802.3	+	24	7639	c.7298G>A	c.(7297-7299)tGc>tAc	p.C2433Y	DSP_ENST00000418664.2_Missense_Mutation_p.C1834Y	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2433	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		AAAGAAAGATGCATTAAGGAT	0.413													A	7584793	G	A	7584793	3	1	364	1	0	0	0	0	1	0	0	0	4820	1319	46	2	7392	2	DSP	6	7584793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	925	7584793	163530274	5045	28547											
BMP6	654	broad.mit.edu	37	chr6	7862681	7862681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcgccgacaacagagtcGtaatcgctctacccagtccc	9	6	9	17	5	1	1	0	0	1	1	4	2	2	1	4	1	2	2	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7862681G>A	ENST00000283147.6	+	4	1313	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	385					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CAACAGAGTCGTAATCGCTCT	0.597													A	7862681	G	A	7862681	3	1	364	1	0	0	0	0	1	0	0	0	1470	1145	40	1	1168	1	BMP6	6	7862681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	277888	7862681	163252386	5046	28548											
TXNDC5	81567	broad.mit.edu	37	chr6	7891855	7891855	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataagggctttcactcaccTtgccaatcttgacagtttcg	10	13	7	11	1	3	1	2	1	1	0	4	1	3	1	2	1	1	2	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:7891855T>G	ENST00000539054.1	-	5	514	c.515A>C	c.(514-516)aAg>aCg	p.K172T	BLOC1S5-TXNDC5_ENST00000439343.2_3'UTR|TXNDC5_ENST00000473453.1_Splice_Site_p.K136T|TXNDC5_ENST00000379757.4_Splice_Site_p.K244T			Q8NBS9	TXND5_HUMAN	thioredoxin domain containing 5 (endoplasmic reticulum)		Thioredoxin 2.				anti-apoptosis|cell redox homeostasis|cellular membrane organization|glycerol ether metabolic process|post-Golgi vesicle-mediated transport	endoplasmic reticulum lumen|lysosomal lumen	electron carrier activity|isomerase activity|protein disulfide oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(2)	22	Ovarian(93;0.0398)					TTCACTCACCTTGCCAATCTT	0.498													G	7891855	T	G	7891855	5	3	364	1	0	0	0	0	0	0	1	0	16901	1623	56	5	591	5	TXNDC5	6	7891855	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29174	7891855	163223212	5047	28549											
SLC35B3	51000	broad.mit.edu	37	chr6	8428253	8428253	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcactaaggtaaggtaccaGccacaggacttaaaaccctc	14	7	8	12	0	0	0	0	0	0	0	1	1	0	1	3	3	4	3	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:8428253G>T	ENST00000379660.4	-	4	785	c.336C>A	c.(334-336)ggC>ggA	p.G112G	SLC35B3_ENST00000426876.1_Silent_p.G178G|SLC35B3_ENST00000339306.5_Silent_p.G112G	NM_001142540.1|NM_001142541.1|NM_015948.3	NP_001136012.1|NP_001136013.1|NP_057032.2	Q9H1N7	S35B3_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B3	112					transmembrane transport	Golgi membrane|integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(1)|prostate(1)	15	Ovarian(93;0.0569)					TAAGGTACCAGCCACAGGACT	0.378													T	8428253	G	T	8428253	2	4	364	1	0	0	0	0	0	0	0	1	14671	958	34	4		4	SLC35B3	6	8428253	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	536398	8428253	162686814	5048	28550											
GCNT2	2651	broad.mit.edu	37	chr6	10556805	10556805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgactcaagtttgcacatCttttatcaatggaaaaacac	14	12	6	9	0	3	1	2	1	1	0	3	2	3	2	0	1	2	3	0	1	5	3	rs55800934		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10556805C>T	ENST00000316170.3	+	1	566	c.149C>T	c.(148-150)tCt>tTt	p.S50F	GCNT2_ENST00000410107.1_Intron|GCNT2_ENST00000397423.2_Intron|GCNT2_ENST00000495262.1_Intron|GCNT2_ENST00000379597.3_Intron	NM_001491.2	NP_001482.1	Q8N0V5	GNT2A_HUMAN	glucosaminyl (N-acetyl) transferase 2, I-branching enzyme (I blood group)	51						Golgi membrane|integral to membrane	N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(2)|ovary(2)	12	Ovarian(93;0.107)|Breast(50;0.148)	all_hematologic(90;0.107)		KIRC - Kidney renal clear cell carcinoma(1;0.099)|Kidney(1;0.119)		GTTTGCACATCTTTTATCAAT	0.393													T	10556805	C	T	10556805	3	4	364	1	0	0	0	0	1	0	0	0	6355	913	32	2	1080	2	GCNT2	6	10556805	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2128552	10556805	160558262	5049	28551											
PAK1IP1	55003	broad.mit.edu	37	chr6	10697569	10697569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcagcaatggactcttGtggctgacttcactcaccat	9	12	8	12	0	4	1	3	1	1	0	4	2	4	2	1	2	2	3	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10697569G>A	ENST00000379568.3	+	2	388	c.97G>A	c.(97-99)Gtg>Atg	p.V33M		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	33					negative regulation of signal transduction	nucleolus|plasma membrane				kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				ATGGACTCTTGTGGCTGACTT	0.438													A	10697569	G	A	10697569	3	1	364	1	0	0	0	0	1	0	0	0	11476	1377	48	2	103	2	PAK1IP1	6	10697569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140764	10697569	160417498	5050	28552											
GCM2	9247	broad.mit.edu	37	chr6	10874354	10874354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctagaggaaactggctcGtggggaatagccacagtggg	10	7	16	8	1	0	1	0	0	0	1	2	3	1	3	2	5	2	1	2	5	4	2	rs139538731	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10874354G>A	ENST00000379491.4	-	5	1542	c.1395C>T	c.(1393-1395)caC>caT	p.H465H	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	465					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				AAACTGGCTCGTGGGGAATAG	0.572													A	10874354	G	A	10874354	2	1	364	1	0	0	0	0	0	0	0	1	6352	1136	40	1		1	GCM2	6	10874354	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176785	10874354	160240713	5051	28553											
GCM2	9247	broad.mit.edu	37	chr6	10876185	10876185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccatttgtctcttgatgGcgcttcttctagcttctgtc	4	17	9	11	1	4	1	0	1	4	0	6	1	4	1	1	2	1	2	1	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10876185G>A	ENST00000379491.4	-	4	668	c.521C>T	c.(520-522)gCc>gTc	p.A174V	SYCP2L_ENST00000543878.1_Intron|RP11-637O19.3_ENST00000480294.1_Intron	NM_004752.3	NP_004743.1	O75603	GCM2_HUMAN	glial cells missing homolog 2 (Drosophila)	174					cellular calcium ion homeostasis|cellular phosphate ion homeostasis|parathyroid gland development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	30	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)				TCTCTTGATGGCGCTTCTTCT	0.463													A	10876185	G	A	10876185	3	1	364	1	0	0	0	0	1	0	0	0	6352	1203	42	2	1007	2	GCM2	6	10876185	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1831	10876185	160238882	5052	28554											
SYCP2L	221711	broad.mit.edu	37	chr6	10906267	10906267	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggaaagaccttgcaaGgacactcttgactgtgggtg	10	11	12	8	0	2	2	1	1	1	1	2	4	2	4	1	3	1	1	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:10906267G>T	ENST00000283141.6	+	9	952	c.656G>T	c.(655-657)aGg>aTg	p.R219M	SYCP2L_ENST00000543878.1_Missense_Mutation_p.R60M|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	219						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GACCTTGCAAGGACACTCTTG	0.338													T	10906267	G	T	10906267	3	4	364	1	0	0	0	0	1	0	0	0	15530	1000	35	4	690	4	SYCP2L	6	10906267	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30082	10906267	160208800	5053	28555											
NEDD9	4739	broad.mit.edu	37	chr6	11191146	11191146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgaacgcctcgggggAcatcatatgcgtcgttctga	10	9	12	10	4	2	2	1	2	1	0	4	4	2	3	1	2	3	1	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:11191146A>G	ENST00000379446.5	-	5	1122	c.956T>C	c.(955-957)gTc>gCc	p.V319A	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.V319A	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	319					actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GCCTCGGGGGACATCATATGC	0.577													G	11191146	A	G	11191146	3	3	364	1	0	0	0	0	1	0	0	0	10389	275	10	3	1560	3	NEDD9	6	11191146	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	284879	11191146	159923921	5054	28556											
HIVEP1	3096	broad.mit.edu	37	chr6	12120714	12120714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaactgaggccaaataaaaCtgcacgttcccctcccaaat	16	7	5	13	1	0	1	0	1	0	0	2	1	2	1	4	1	3	2	4	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120714C>A	ENST00000379388.2	+	4	1018	c.686C>A	c.(685-687)aCt>aAt	p.T229N		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	229					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CCAAATAAAACTGCACGTTCC	0.428													A	12120714	C	A	12120714	3	1	364	1	0	0	0	0	1	0	0	0	7241	565	20	4	696	4	HIVEP1	6	12120714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	929568	12120714	158994353	5055	28557											
HIVEP1	3096	broad.mit.edu	37	chr6	12120776	12120776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccccaaatcagacttcacagGaattggttgctgaatcacag	13	9	8	11	0	3	2	3	1	0	1	3	3	3	3	2	2	1	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12120776G>A	ENST00000379388.2	+	4	1080	c.748G>A	c.(748-750)Gaa>Aaa	p.E250K		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	250					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GACTTCACAGGAATTGGTTGC	0.423													A	12120776	G	A	12120776	3	1	364	1	0	0	0	0	1	0	0	0	7241	1175	41	2	758	2	HIVEP1	6	12120776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62	12120776	158994291	5056	28558											
HIVEP1	3096	broad.mit.edu	37	chr6	12122175	12122175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcagctcttgtcaccaCgtcaacaccctctgctttgc	6	12	6	17	1	5	0	2	0	3	0	5	0	5	0	2	0	5	3	2	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122175C>T	ENST00000379388.2	+	4	2479	c.2147C>T	c.(2146-2148)aCg>aTg	p.T716M		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	716			T -> A (in dbSNP:rs2228210).		transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTTGTCACCACGTCAACACCC	0.527													T	12122175	C	T	12122175	3	4	364	1	0	0	0	0	1	0	0	0	7241	536	19	1	2157	1	HIVEP1	6	12122175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1399	12122175	158992892	5057	28559											
HIVEP1	3096	broad.mit.edu	37	chr6	12122570	12122570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccgaccacaggttatTcagcagtacctgcaaatata	13	9	7	12	1	1	0	1	0	0	0	1	1	1	0	4	1	4	4	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12122570T>C	ENST00000379388.2	+	4	2874	c.2542T>C	c.(2542-2544)Tca>Cca	p.S848P		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	848					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CACAGGTTATTCAGCAGTACC	0.398													C	12122570	T	C	12122570	3	2	364	1	0	0	0	0	1	0	0	0	7241	1783	62	3	2552	3	HIVEP1	6	12122570	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	395	12122570	158992497	5058	28560											
HIVEP1	3096	broad.mit.edu	37	chr6	12123223	12123223	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttcagaatgctctgggCtgtaatcccagtttgcctaa	9	13	9	10	0	2	1	1	0	1	1	3	1	3	1	2	1	2	5	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12123223C>A	ENST00000379388.2	+	4	3527	c.3195C>A	c.(3193-3195)ggC>ggA	p.G1065G		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1065					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				ATGCTCTGGGCTGTAATCCCA	0.403													A	12123223	C	A	12123223	2	1	364	1	0	0	0	0	0	0	0	1	7241	784	28	4		4	HIVEP1	6	12123223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	653	12123223	158991844	5059	28561											
HIVEP1	3096	broad.mit.edu	37	chr6	12164453	12164453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatggacacagagaaggctgCctcggcaaatcacgtgaagc	14	5	12	10	2	1	2	1	1	0	1	2	4	1	3	1	3	2	2	1	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:12164453C>T	ENST00000379388.2	+	9	8248	c.7916C>T	c.(7915-7917)gCc>gTc	p.A2639V	HIVEP1_ENST00000541134.1_Missense_Mutation_p.A504V	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2639					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				GAGAAGGCTGCCTCGGCAAAT	0.517													T	12164453	C	T	12164453	3	4	364	1	0	0	0	0	1	0	0	0	7241	739	26	2	7946	2	HIVEP1	6	12164453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41230	12164453	158950614	5060	28562											
PHACTR1	221692	broad.mit.edu	37	chr6	13185034	13185034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttgtcccctcagtgtCtgaagagagtccctctgcca	6	12	11	12	0	3	2	1	1	2	1	5	3	5	2	4	1	1	1	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185034C>A	ENST00000379345.2	+	5	474	c.233C>A	c.(232-234)tCt>tAt	p.S78Y	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	221						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			CCCTCAGTGTCTGAAGAGAGT	0.572													A	13185034	C	A	13185034	3	1	364	1	0	0	0	0	1	0	0	0	11886	928	32	4		4	PHACTR1	6	13185034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1020581	13185034	157930033	5061	28563											
PHACTR1	221692	broad.mit.edu	37	chr6	13185202	13185202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagcccccggccctgcctcCcaaacccactaccaggattg	8	5	8	20	1	0	0	0	0	0	0	1	1	1	1	7	2	4	1	7	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13185202C>T	ENST00000379345.2	+	5	642	c.401C>T	c.(400-402)cCc>cTc	p.P134L	PHACTR1_ENST00000379350.1_Intron|PHACTR1_ENST00000457702.2_Intron|PHACTR1_ENST00000332995.7_Intron			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	512						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GCCCTGCCTCCCAAACCCACT	0.562													T	13185202	C	T	13185202	3	4	364	1	0	0	0	0	1	0	0	0	11886	638	22	2		2	PHACTR1	6	13185202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168	13185202	157929865	5062	28564											
RANBP9	10048	broad.mit.edu	37	chr6	13657462	13657462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagttccagaagaacaaaaCgaatgtccatcatccccatg	15	7	6	13	1	1	2	1	0	0	2	4	3	4	2	5	0	2	1	5	0	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:13657462C>T	ENST00000011619.3	-	4	841	c.783G>A	c.(781-783)tcG>tcA	p.S261S	RANBP9_ENST00000539980.1_Silent_p.S32S	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	261	B30.2/SPRY.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			AAGAACAAAACGAATGTCCAT	0.393													T	13657462	C	T	13657462	2	4	364	1	0	0	0	0	0	0	0	1	13120	523	19	1		1	RANBP9	6	13657462	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	472260	13657462	157457605	5063	28565											
CD83	9308	broad.mit.edu	37	chr6	14131769	14131769	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttattggagggtggtgaaGagaggatggagacaccccag	12	7	17	5	0	0	3	0	1	0	2	0	7	0	5	2	5	0	1	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14131769G>T	ENST00000379153.3	+	3	343	c.172G>T	c.(172-174)Gag>Tag	p.E58*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	58	Ig-like V-type.				defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				GGGTGGTGAAGAGAGGATGGA	0.502													T	14131769	G	T	14131769	4	4	364	1	0	0	0	0	0	1	0	0	3071	943	33	4	182	4	CD83	6	14131769	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	474307	14131769	156983298	5064	28566											
CD83	9308	broad.mit.edu	37	chr6	14135456	14135456	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgactcctcacaagacaGaactggtatgagcaggattt	13	10	10	8	0	1	4	1	2	0	2	2	5	2	5	1	2	2	2	1	2	4	3	rs147096996	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:14135456G>T	ENST00000379153.3	+	5	778	c.607G>T	c.(607-609)Gaa>Taa	p.E203*		NM_001040280.1|NM_001251901.1|NM_004233.3	NP_001035370.1|NP_001238830.1|NP_004224.1	Q01151	CD83_HUMAN	CD83 molecule	203					defense response|humoral immune response|signal transduction	integral to plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	12	Breast(50;0.00245)|Ovarian(93;0.137)	all_hematologic(90;0.117)				TCACAAGACAGAACTGGTATG	0.488													T	14135456	G	T	14135456	4	4	364	1	0	0	0	0	0	1	0	0	3071	943	33	4	625	4	CD83	6	14135456	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3687	14135456	156979611	5065	28567											
JARID2	3720	broad.mit.edu	37	chr6	15487706	15487706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctccacgggttcctcggCcaaggggcttgctgccaccc	4	7	11	19	2	0	0	0	0	0	0	3	0	2	0	7	4	2	3	7	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15487706C>T	ENST00000341776.2	+	6	1083	c.839C>T	c.(838-840)gCc>gTc	p.A280V	JARID2_ENST00000397311.3_Missense_Mutation_p.A108V|JARID2_ENST00000541660.1_Missense_Mutation_p.A242V	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	280					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				GGTTCCTCGGCCAAGGGGCTT	0.652													T	15487706	C	T	15487706	3	4	364	1	0	0	0	0	1	0	0	0	8003	739	26	2	861	2	JARID2	6	15487706	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1352250	15487706	155627361	5066	28568											
DTNBP1	84062	broad.mit.edu	37	chr6	15524688	15524688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggcagatggttctcacGtctcacctttggaggggagt	7	11	14	9	1	2	1	2	0	2	1	4	4	2	3	1	5	0	2	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15524688G>A	ENST00000338950.5	-	9	985	c.880C>T	c.(880-882)Cgt>Tgt	p.R294C	DTNBP1_ENST00000462989.2_Intron|DTNBP1_ENST00000344537.5_Intron|DTNBP1_ENST00000355917.3_Intron	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	0	Dysbindin.				actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			TGGTTCTCACGTCTCACCTTT	0.567									Hermansky-Pudlak syndrome				A	15524688	G	A	15524688	3	1	364	1	0	0	0	0	1	0	0	0	4829	1145	40	1	284	1	DTNBP1	6	15524688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36982	15524688	155590379	5067	28569											
DTNBP1	84062	broad.mit.edu	37	chr6	15615599	15615599	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagatgcagcaggttgttCtctacctcctcaaaactcgc	9	11	7	14	1	2	1	1	0	1	1	6	1	4	1	3	1	4	4	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:15615599C>A	ENST00000338950.5	-	6	492	c.387G>T	c.(385-387)gaG>gaT	p.E129D	DTNBP1_ENST00000344537.5_Missense_Mutation_p.E129D|DTNBP1_ENST00000355917.3_Missense_Mutation_p.E129D	NM_183040.2	NP_898861.1	Q96EV8	DTBP1_HUMAN	dystrobrevin binding protein 1	129					actin cytoskeleton reorganization|cellular membrane organization|neuron projection morphogenesis|post-Golgi vesicle-mediated transport|regulation of dopamine receptor signaling pathway	axon part|BLOC-1 complex|cell junction|dendritic spine|endoplasmic reticulum membrane|endosome membrane|growth cone|melanosome membrane|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|synaptic vesicle membrane|synaptosome	identical protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	14	Breast(50;0.0289)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.211)			GCAGGTTGTTCTCTACCTCCT	0.368									Hermansky-Pudlak syndrome				A	15615599	C	A	15615599	3	1	364	1	0	0	0	0	1	0	0	0	4829	912	32	4	789	4	DTNBP1	6	15615599	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90911	15615599	155499468	5068	28570											
MYLIP	29116	broad.mit.edu	37	chr6	16145221	16145221	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaatgaaaacattaacctTggcaagaaatatgtctttga	16	12	7	6	0	1	4	0	3	1	1	1	4	1	4	1	1	2	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145221T>C	ENST00000349606.4	+	5	882	c.378T>C	c.(376-378)ctT>ctC	p.L126L	MYLIP_ENST00000356840.3_Silent_p.L307L			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	307	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACATTAACCTTGGCAAGAAAT	0.463													C	16145221	T	C	16145221	2	2	364	1	0	0	0	0	0	0	0	1	10131	1799	63	3		3	MYLIP	6	16145221	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	529622	16145221	154969846	5069	28571											
MYLIP	29116	broad.mit.edu	37	chr6	16145386	16145386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcatgaactgcagcagCtgcgagggcctcagctgcca	10	5	13	13	1	1	1	1	1	0	0	1	2	1	1	2	1	9	6	2	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16145386C>T	ENST00000349606.4	+	5	1047	c.543C>T	c.(541-543)agC>agT	p.S181S	MYLIP_ENST00000356840.3_Silent_p.S362S			Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	362	FERM.				cellular component movement|nervous system development	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			ACTGCAGCAGCTGCGAGGGCC	0.572													T	16145386	C	T	16145386	2	4	364	1	0	0	0	0	0	0	0	1	10131	796	28	2		2	MYLIP	6	16145386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165	16145386	154969681	5070	28572											
ATXN1	6310	broad.mit.edu	37	chr6	16306647	16306647	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagtcaaaggtggttcGtcttctgacttctccagttt	8	14	11	8	1	4	2	1	1	3	1	6	3	4	3	1	3	0	2	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16306647G>A	ENST00000244769.4	-	9	3297	c.2361C>T	c.(2359-2361)gaC>gaT	p.D787D	ATXN1_ENST00000436367.1_Silent_p.D787D	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	787	Interaction with USP7.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AAGGTGGTTCGTCTTCTGACT	0.547													A	16306647	G	A	16306647	2	1	364	1	0	0	0	0	0	0	0	1	1214	1136	40	1		1	ATXN1	6	16306647	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161261	16306647	154808420	5071	28573											
ATXN1	6310	broad.mit.edu	37	chr6	16327654	16327654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgagggacaaagtggctgccGgagtcggcgtattgcatgac	9	7	16	9	4	0	1	0	1	0	0	1	4	0	3	1	4	2	3	1	4	2	2	rs140153287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:16327654G>A	ENST00000244769.4	-	8	1824	c.888C>T	c.(886-888)tcC>tcT	p.S296S	ATXN1_ENST00000436367.1_Silent_p.S296S	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	296					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				AGTGGCTGCCGGAGTCGGCGT	0.657													A	16327654	G	A	16327654	2	1	364	1	0	0	0	0	0	0	0	1	1214	1103	39	1		1	ATXN1	6	16327654	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21007	16327654	154787413	5072	28574											
FAM8A1	51439	broad.mit.edu	37	chr6	17601185	17601185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacttcctgagccccggggCcgcggggcctgacccgcgga	4	5	15	17	5	0	2	0	2	0	0	1	3	1	3	6	5	2	0	6	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17601185C>T	ENST00000259963.3	+	1	600	c.545C>T	c.(544-546)gCc>gTc	p.A182V		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	182						integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			AGCCCCGGGGCCGCGGGGCCT	0.756													T	17601185	C	T	17601185	3	4	364	1	0	0	0	0	1	0	0	0	5698	739	26	2	547	2	FAM8A1	6	17601185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1273531	17601185	153513882	5073	28575											
FAM8A1	51439	broad.mit.edu	37	chr6	17605235	17605235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatggttgtggcacttatatAcagattattagtttgtttct	9	19	9	4	0	1	1	0	0	1	1	1	2	1	1	0	2	1	4	0	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17605235A>G	ENST00000259963.3	+	3	987	c.932A>G	c.(931-933)tAc>tGc	p.Y311C		NM_016255.2	NP_057339.1	Q9UBU6	FA8A1_HUMAN	family with sequence similarity 8, member A1	311	RDD.					integral to membrane				endometrium(1)|large_intestine(2)|lung(3)	6	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.143)	all cancers(50;0.176)|Epithelial(50;0.204)			GCACTTATATACAGATTATTA	0.284													G	17605235	A	G	17605235	3	3	364	1	0	0	0	0	1	0	0	0	5698	391	14	3	942	3	FAM8A1	6	17605235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4050	17605235	153509832	5074	28576											
NUP153	9972	broad.mit.edu	37	chr6	17624875	17624875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggctactgcttgacactGtcccaaaagtaggtggtgca	9	10	12	10	0	0	1	0	1	0	0	1	1	1	1	1	3	3	5	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17624875G>A	ENST00000262077.2	-	20	4090	c.4091C>T	c.(4090-4092)aCa>aTa	p.T1364I	NUP153_ENST00000537253.1_Missense_Mutation_p.T1395I	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	1364					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTTGACACTGTCCCAAAAGT	0.507													A	17624875	G	A	17624875	3	1	364	1	0	0	0	0	1	0	0	0	10831	1377	48	2	348	2	NUP153	6	17624875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19640	17624875	153490192	5075	28577											
NUP153	9972	broad.mit.edu	37	chr6	17629558	17629558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactccaaatttaaaatCtcctattggtttagaaaatt	16	15	4	6	0	1	2	0	1	1	1	3	2	2	2	2	1	1	1	2	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629558C>A	ENST00000262077.2	-	18	2871	c.2872G>T	c.(2872-2874)Gat>Tat	p.D958Y	NUP153_ENST00000537253.1_Missense_Mutation_p.D989Y	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	958					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			AATTTAAAATCTCCTATTGGT	0.333													A	17629558	C	A	17629558	3	1	364	1	0	0	0	0	1	0	0	0	10831	913	32	4	1575	4	NUP153	6	17629558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4683	17629558	153485509	5076	28578											
NUP153	9972	broad.mit.edu	37	chr6	17629745	17629745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaggaggctgctgagttCgaagatgaggaagatgtgtc	11	9	17	4	1	0	5	0	3	0	2	2	9	0	7	0	3	1	3	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388													T	17629745	C	T	17629745	2	4	364	1	0	0	0	0	0	0	0	1	10831	871	31	1		1	NUP153	6	17629745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	17629745	153485322	5077	28579											
NUP153	9972	broad.mit.edu	37	chr6	17688630	17688630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcacattttacttaccttCtgtattactgactgctggct	8	18	5	10	0	2	1	1	1	1	0	2	1	2	1	1	1	4	3	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17688630C>T	ENST00000262077.2	-	2	330	c.331G>A	c.(331-333)Gaa>Aaa	p.E111K	NUP153_ENST00000537253.1_Missense_Mutation_p.E111K	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	111					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			TACTTACCTTCTGTATTACTG	0.393													T	17688630	C	T	17688630	3	4	364	1	0	0	0	0	1	0	0	0	10831	922	32	2	4180	2	NUP153	6	17688630	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58885	17688630	153426437	5078	28580											
NUP153	9972	broad.mit.edu	37	chr6	17706523	17706523	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catacctgatgctgttgtcgCccctgctggtaaggcttaat	7	13	10	11	1	0	1	0	1	0	0	1	1	0	1	3	2	3	5	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17706523C>T	ENST00000262077.2	-	1	95	c.96G>A	c.(94-96)ggG>ggA	p.G32G	NUP153_ENST00000537253.1_Silent_p.G32G|RP11-500C11.3_ENST00000606771.1_RNA	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	32					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GCTGTTGTCGCCCCTGCTGGT	0.726													T	17706523	C	T	17706523	2	4	364	1	0	0	0	0	0	0	0	1	10831	726	26	2		2	NUP153	6	17706523	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17893	17706523	153408544	5079	28581											
KIF13A	63971	broad.mit.edu	37	chr6	17771432	17771432	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagccagggttatgtgcCtgaggtggaggcatgctctg	7	10	16	8	0	1	1	0	1	1	0	1	2	1	2	2	4	4	4	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17771432C>T	ENST00000259711.6	-	38	4599	c.4494G>A	c.(4492-4494)caG>caA	p.Q1498Q	KIF13A_ENST00000378816.5_Intron|KIF13A_ENST00000378826.2_Intron|KIF13A_ENST00000378843.2_Intron|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1498					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GGTTATGTGCCTGAGGTGGAG	0.453													T	17771432	C	T	17771432	2	4	364	1	0	0	0	0	0	0	0	1	8332	680	24	2		2	KIF13A	6	17771432	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64909	17771432	153343635	5080	28582											
KIF13A	63971	broad.mit.edu	37	chr6	17788044	17788044	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttatctgttcatccagGtattctcgtcgtttaatgag	7	20	7	7	2	3	1	1	1	2	0	6	1	4	1	1	1	0	3	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17788044G>A	ENST00000378814.5	-	26	3284	c.3285C>T	c.(3283-3285)taC>taT	p.Y1095Y	KIF13A_ENST00000378816.5_Silent_p.Y1108Y|KIF13A_ENST00000378826.2_Silent_p.Y1108Y|KIF13A_ENST00000259711.6_Silent_p.Y1108Y|KIF13A_ENST00000378843.2_Silent_p.Y1095Y	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1108					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			GTTCATCCAGGTATTCTCGTC	0.398													A	17788044	G	A	17788044	2	1	364	1	0	0	0	0	0	0	0	1	8332	1256	44	2		2	KIF13A	6	17788044	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16612	17788044	153327023	5081	28583											
KIF13A	63971	broad.mit.edu	37	chr6	17794856	17794856	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcttttgcctgatgaagttCcactgcagcatactctccta	9	14	6	12	0	2	2	0	2	2	0	4	2	3	2	3	0	4	3	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17794856C>T	ENST00000378814.5	-	24	3021	c.3022G>A	c.(3022-3024)Gaa>Aaa	p.E1008K	KIF13A_ENST00000378816.5_Missense_Mutation_p.E1008K|KIF13A_ENST00000378826.2_Missense_Mutation_p.E1008K|KIF13A_ENST00000259711.6_Missense_Mutation_p.E1008K|KIF13A_ENST00000378843.2_Missense_Mutation_p.E1008K	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1008					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGATGAAGTTCCACTGCAGCA	0.388													T	17794856	C	T	17794856	3	4	364	1	0	0	0	0	1	0	0	0	8332	864	30	2	2484	2	KIF13A	6	17794856	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6812	17794856	153320211	5082	28584											
KIF13A	63971	broad.mit.edu	37	chr6	17826109	17826109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcatgctctggcgggcccGtttctttttcaaagtctttc	4	16	10	11	2	5	0	2	0	3	0	6	0	5	0	1	3	1	2	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17826109G>A	ENST00000378814.5	-	16	1675	c.1676C>T	c.(1675-1677)aCg>aTg	p.T559M	KIF13A_ENST00000378816.5_Missense_Mutation_p.T559M|KIF13A_ENST00000378826.2_Missense_Mutation_p.T559M|KIF13A_ENST00000259711.6_Missense_Mutation_p.T559M|KIF13A_ENST00000378843.2_Missense_Mutation_p.T559M	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	559					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			TGGCGGGCCCGTTTCTTTTTC	0.423													A	17826109	G	A	17826109	3	1	364	1	0	0	0	0	1	0	0	0	8332	1145	40	1	3862	1	KIF13A	6	17826109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31253	17826109	153288958	5083	28585											
KIF13A	63971	broad.mit.edu	37	chr6	17850612	17850612	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgaacacagcatgggagCggctgctttcttcgttcatg	7	13	12	9	2	2	1	1	1	1	0	3	2	2	2	0	2	4	5	0	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:17850612C>T	ENST00000378814.5	-	8	658	c.659G>A	c.(658-660)cGc>cAc	p.R220H	KIF13A_ENST00000378816.5_Missense_Mutation_p.R220H|KIF13A_ENST00000378826.2_Missense_Mutation_p.R220H|KIF13A_ENST00000259711.6_Missense_Mutation_p.R220H|KIF13A_ENST00000378843.2_Missense_Mutation_p.R220H	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	220	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			AGCATGGGAGCGGCTGCTTTC	0.468													T	17850612	C	T	17850612	3	4	364	1	0	0	0	0	1	0	0	0	8332	768	27	1	4911	1	KIF13A	6	17850612	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24503	17850612	153264455	5084	28586											
KDM1B	221656	broad.mit.edu	37	chr6	18215283	18215283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgattgccggggaggctgtcGcatccgtgaggaccctggat	6	9	16	10	3	0	2	0	2	0	0	2	5	1	5	3	5	1	2	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18215283G>A	ENST00000388870.2	+	20	2399	c.2158G>A	c.(2158-2160)Gca>Aca	p.A720T	KDM1B_ENST00000546309.2_Missense_Mutation_p.A10T|KDM1B_ENST00000397244.1_Missense_Mutation_p.A488T|KDM1B_ENST00000297792.5_Missense_Mutation_p.A487T			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	719					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						GGAGGCTGTCGCATCCGTGAG	0.572													A	18215283	G	A	18215283	3	1	364	1	0	0	0	0	1	0	0	0	8181	1087	38	1	1513	1	KDM1B	6	18215283	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364671	18215283	152899784	5085	28587											
DEK	7913	broad.mit.edu	37	chr6	18258281	18258281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctcaatttcacaaagtTtctgcccctttcctggggaa	8	14	6	13	0	3	0	2	0	2	0	6	1	5	1	4	2	1	1	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18258281T>C	ENST00000397239.3	-	4	707	c.260A>G	c.(259-261)aAa>aGa	p.K87R	DEK_ENST00000244776.7_Missense_Mutation_p.K53R	NM_003472.3	NP_003463.1	P35659	DEK_HUMAN	DEK oncogene	87					chromatin modification|regulation of transcription from RNA polymerase II promoter|signal transduction|transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|histone binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Ovarian(93;0.00769)|Breast(50;0.0495)	all_hematologic(90;0.053)	OV - Ovarian serous cystadenocarcinoma(7;0.00291)|all cancers(50;0.031)|Epithelial(50;0.0332)			TTCACAAAGTTTCTGCCCCTT	0.318			T	NUP214	AML								C	18258281	T	C	18258281	3	2	364	1	0	0	0	0	1	0	0	0	4463	1841	64	3	899	3	DEK	6	18258281	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42998	18258281	152856786	5086	28588											
RNF144B	255488	broad.mit.edu	37	chr6	18427916	18427916	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaccctgcaggaagctgaGgtatgaatgactaccatcat	12	8	12	9	0	1	3	1	3	0	0	1	5	1	5	2	3	3	3	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18427916G>A	ENST00000259939.3	+	3	587	c.270G>A	c.(268-270)gaG>gaA	p.E90E	RNF144B_ENST00000429054.2_Intron	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	90					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AGGAAGCTGAGGTATGAATGA	0.458													A	18427916	G	A	18427916	5	1	364	1	0	0	0	0	0	0	1	0	13537	1014	35	2	276	2	RNF144B	6	18427916	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169635	18427916	152687151	5087	28589											
RNF144B	255488	broad.mit.edu	37	chr6	18459946	18459946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgtgcaaaaactgcaaGcatacattttgctggtactg	13	12	9	7	0	0	1	0	1	0	0	0	1	0	1	0	1	7	5	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:18459946G>T	ENST00000259939.3	+	6	962	c.645G>T	c.(643-645)aaG>aaT	p.K215N	RNF144B_ENST00000429054.2_Missense_Mutation_p.K126N	NM_182757.3	NP_877434.2	Q7Z419	R144B_HUMAN	ring finger protein 144B	215					apoptosis|positive regulation of anti-apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(7)	11	Ovarian(93;0.00365)|Breast(50;0.0145)	all_hematologic(90;0.0536)	OV - Ovarian serous cystadenocarcinoma(7;0.00165)|all cancers(50;0.0102)|Epithelial(50;0.0105)			AAAACTGCAAGCATACATTTT	0.468													T	18459946	G	T	18459946	3	4	364	1	0	0	0	0	1	0	0	0	13537	962	34	4	663	4	RNF144B	6	18459946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32030	18459946	152655121	5088	28590											
E2F3	1871	broad.mit.edu	37	chr6	20487011	20487011	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccctccagaaacaagaCttgaagtgcctgactcaata	15	7	7	12	0	1	4	1	2	0	2	2	4	2	4	4	0	3	0	4	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:20487011C>A	ENST00000346618.3	+	5	1042	c.976C>A	c.(976-978)Ctt>Att	p.L326I	E2F3_ENST00000535432.1_Missense_Mutation_p.L195I	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	326	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			AGAAACAAGACTTGAAGTGCC	0.383													A	20487011	C	A	20487011	3	1	364	1	0	0	0	0	1	0	0	0	4907	565	20	4	994	4	E2F3	6	20487011	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2027065	20487011	150628056	5089	28591											
SOX4	6659	broad.mit.edu	37	chr6	21595157	21595157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactacaagtaccggcccaGgaagaaggtgaagtccggca	13	4	13	11	3	0	2	0	1	0	1	1	4	1	3	3	4	2	2	3	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:21595157G>T	ENST00000244745.1	+	1	1186	c.392G>T	c.(391-393)aGg>aTg	p.R131M	SOX4_ENST00000543472.1_Missense_Mutation_p.R131M	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	131					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TACCGGCCCAGGAAGAAGGTG	0.637													T	21595157	G	T	21595157	3	4	364	1	0	0	0	0	1	0	0	0	15047	1000	35	4	394	4	SOX4	6	21595157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1108146	21595157	149519910	5090	28592											
PRL	5617	broad.mit.edu	37	chr6	22294743	22294743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcgggcagccccgccGggacagatgggcaagggggc	7	3	19	12	3	0	1	0	0	0	1	1	2	0	2	3	6	1	3	3	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22294743G>A	ENST00000306482.1	-	2	617	c.99C>T	c.(97-99)ccC>ccT	p.P33P	RP3-404K8.2_ENST00000561912.1_RNA	NM_000948.5|NM_001163558.2	NP_000939.1|NP_001157030.1	P01236	PRL_HUMAN	prolactin	33					cell proliferation|cell surface receptor linked signaling pathway|female pregnancy|lactation|positive regulation of JAK-STAT cascade|regulation of multicellular organism growth	cytosol|extracellular region	hormone activity|prolactin receptor binding			NS(1)|endometrium(2)|large_intestine(6)|lung(6)|prostate(1)	16	Ovarian(93;0.163)					CAGCCCCGCCGGGACAGATGG	0.607													A	22294743	G	A	22294743	2	1	364	1	0	0	0	0	0	0	0	1	12614	1103	39	1		1	PRL	6	22294743	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	699586	22294743	148820324	5091	28593											
HDGFL1	154150	broad.mit.edu	37	chr6	22569978	22569978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcccaaacgcctgttcccGtacaaggagtgcaaggagaa	13	6	11	11	2	0	1	0	0	0	1	2	3	2	2	3	2	3	3	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:22569978G>A	ENST00000510882.2	+	1	184	c.174G>A	c.(172-174)ccG>ccA	p.P58P	HDGFL1_ENST00000230012.3_Silent_p.P58P			Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	58	PWWP.									kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					GCCTGTTCCCGTACAAGGAGT	0.622													A	22569978	G	A	22569978	2	1	364	1	0	0	0	0	0	0	0	1	7074	1132	40	1		1	HDGFL1	6	22569978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275235	22569978	148545089	5092	28594											
NRSN1	140767	broad.mit.edu	37	chr6	24134670	24134670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttatgaggactgtacaGcctcaatttgggagtatgag	11	13	12	5	0	1	2	1	2	0	0	1	4	1	4	1	2	2	3	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24134670G>A	ENST00000378491.4	+	3	416	c.115G>A	c.(115-117)Gcc>Acc	p.A39T	NRSN1_ENST00000378475.1_Missense_Mutation_p.A39T|NRSN1_ENST00000378478.1_Missense_Mutation_p.A39T	NM_080723.4	NP_542454.3	Q8IZ57	NRSN1_HUMAN	neurensin 1	39					nervous system development	growth cone|integral to membrane|neuronal cell body|transport vesicle				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	22						GGACTGTACAGCCTCAATTTG	0.507													A	24134670	G	A	24134670	3	1	364	1	0	0	0	0	1	0	0	0	10738	971	34	2	117	2	NRSN1	6	24134670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1564692	24134670	146980397	5093	28595											
GPLD1	2822	broad.mit.edu	37	chr6	24475410	24475410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccagctgacatctgccGccatgtgagaagtaattcca	11	10	9	11	1	1	2	0	2	1	1	2	3	2	2	4	0	3	2	4	0	3	3	rs143874618		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24475410G>A	ENST00000230036.1	-	5	490	c.380C>T	c.(379-381)gCg>gTg	p.A127V	GPLD1_ENST00000474784.1_5'UTR	NM_001503.3	NP_001494.2	P80108	PHLD_HUMAN	glycosylphosphatidylinositol specific phospholipase D1	127						extracellular region	glycosylphosphatidylinositol phospholipase D activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(11)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	32						GACATCTGCCGCCATGTGAGA	0.438													A	24475410	G	A	24475410	3	1	364	1	0	0	0	0	1	0	0	0	6668	1087	38	1	2267	1	GPLD1	6	24475410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340740	24475410	146639657	5094	28596											
ALDH5A1	7915	broad.mit.edu	37	chr6	24515450	24515450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgttattccctgttctcGaaagaatgccaaggaagtag	13	11	9	8	1	1	1	0	0	1	1	3	3	2	2	2	1	1	3	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24515450G>A	ENST00000357578.3	+	5	927	c.782G>A	c.(781-783)cGa>cAa	p.R261Q	ALDH5A1_ENST00000546278.1_Missense_Mutation_p.R173Q|ALDH5A1_ENST00000348925.2_Missense_Mutation_p.R274Q|ALDH5A1_ENST00000491546.1_Missense_Mutation_p.R233Q	NM_001080.3	NP_001071.1	P51649	SSDH_HUMAN	aldehyde dehydrogenase 5 family, member A1	261					acetate metabolic process|central nervous system development|galactosylceramide metabolic process|gamma-aminobutyric acid catabolic process|glucose metabolic process|glutamate metabolic process|glutamine metabolic process|glutathione metabolic process|glycerophospholipid metabolic process|neurotransmitter catabolic process|neurotransmitter secretion|protein homotetramerization|respiratory electron transport chain|short-chain fatty acid metabolic process|succinate metabolic process	mitochondrial matrix|soluble fraction	succinate-semialdehyde dehydrogenase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|skin(2)|urinary_tract(1)	20					Chlormerodrin(DB00534)|NADH(DB00157)|Succinic acid(DB00139)	CCCTGTTCTCGAAAGAATGCC	0.423													A	24515450	G	A	24515450	3	1	364	1	0	0	0	0	1	0	0	0	502	1058	37	1	843	1	ALDH5A1	6	24515450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40040	24515450	146599617	5095	28597											
C6orf62	81688	broad.mit.edu	37	chr6	24714603	24714603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagaaaacaggagacagacGattttttcaatatcattccg	15	11	7	8	2	2	3	2	0	0	3	3	5	3	3	1	1	1	0	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24714603G>A	ENST00000378119.4	-	3	2539	c.372C>T	c.(370-372)atC>atT	p.I124I	C6orf62_ENST00000378102.3_Silent_p.I95I|C6orf62_ENST00000540769.1_Silent_p.I66I	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	124						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						GGAGACAGACGATTTTTTCAA	0.333													A	24714603	G	A	24714603	2	1	364	1	0	0	0	0	0	0	0	1	2391	1048	37	1		1	C6orf62	6	24714603	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199153	24714603	146400464	5096	28598											
GMNN	51053	broad.mit.edu	37	chr6	24784318	24784318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaaatattattttagaaaAtccatcctctcagtattgga	15	16	4	6	0	1	1	1	0	1	1	4	2	3	2	2	1	0	1	2	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:24784318A>T	ENST00000230056.3	+	5	610	c.278A>T	c.(277-279)aAt>aTt	p.N93I	GMNN_ENST00000356509.3_Missense_Mutation_p.N93I	NM_015895.4	NP_056979.1	O75496	GEMI_HUMAN	geminin, DNA replication inhibitor	93	Necessary and sufficient for interaction with IDAS.				M/G1 transition of mitotic cell cycle|negative regulation of cell cycle|negative regulation of DNA replication|negative regulation of transcription, DNA-dependent	cytosol|nucleoplasm	histone deacetylase binding			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(1)	10						attttaGAAAATCCATCCTCT	0.303													T	24784318	A	T	24784318	3	4	364	1	0	0	0	0	1	0	0	0	6549	101	4	5	292	5	GMNN	6	24784318	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69715	24784318	146330749	5097	28599											
LRRC16A	55604	broad.mit.edu	37	chr6	25280063	25280063	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttcccagggagttgataGgtaagattcacgcggttgtt	9	12	13	7	3	1	2	1	1	0	1	2	3	2	3	1	3	0	5	1	3	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25280063G>T	ENST00000329474.6	+	1	408	c.40G>T	c.(40-42)Gaa>Taa	p.E14*	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	14					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GGAGTTGATAGGTAAGATTCA	0.552													T	25280063	G	T	25280063	5	4	364	1	0	0	0	0	0	0	1	0	9041	1014	35	4	42	4	LRRC16A	6	25280063	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	495745	25280063	145835004	5098	28600											
LRRC16A	55604	broad.mit.edu	37	chr6	25471461	25471461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcgactggaagaattggTgttggaaaatgctggactta	13	11	12	5	1	0	1	0	0	0	1	1	5	0	4	0	4	1	2	0	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25471461T>C	ENST00000329474.6	+	10	1123	c.755T>C	c.(754-756)gTg>gCg	p.V252A	LRRC16A_ENST00000377969.3_Missense_Mutation_p.V91A	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	252					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GAAGAATTGGTGTTGGAAAAT	0.363													C	25471461	T	C	25471461	3	2	364	1	0	0	0	0	1	0	0	0	9041	1696	59	3	793	3	LRRC16A	6	25471461	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	191398	25471461	145643606	5099	28601											
LRRC16A	55604	broad.mit.edu	37	chr6	25551155	25551155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcgttgcttgagtccatGgttgatgctgctgagaatct	7	13	13	8	1	1	3	0	3	1	1	2	4	2	3	1	2	3	5	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25551155G>T	ENST00000329474.6	+	27	2714	c.2346G>T	c.(2344-2346)atG>atT	p.M782I		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	782					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTGAGTCCATGGTTGATGCTG	0.458													T	25551155	G	T	25551155	3	4	364	1	0	0	0	0	1	0	0	0	9041	1348	47	4	2452	4	LRRC16A	6	25551155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79694	25551155	145563912	5100	28602											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727362	25727362	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatctttgagcgtataGcgagcgaggcatcacgtttg	9	12	12	8	4	2	2	1	2	1	0	2	4	2	2	0	1	3	3	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25727362G>T	ENST00000274764.2	+	1	226	c.226G>T	c.(226-228)Gcg>Tcg	p.A76S		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	76					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						TGAGCGTATAGCGAGCGAGGC	0.507													T	25727362	G	T	25727362	3	4	364	1	0	0	0	0	1	0	0	0	7195	971	34	4	228	4	HIST1H2BA	6	25727362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176207	25727362	145387705	5101	28603											
SLC17A4	10050	broad.mit.edu	37	chr6	25777163	25777163	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgaatcaggagcccttgTtaacttcttggatattgctc	8	15	9	9	0	2	1	1	1	1	0	3	3	2	3	1	2	3	2	1	2	3	6	rs150527531		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25777163T>C	ENST00000377905.4	+	10	1363	c.1244T>C	c.(1243-1245)gTt>gCt	p.V415A	SLC17A4_ENST00000397076.2_Missense_Mutation_p.V213A|SLC17A4_ENST00000439485.2_Missense_Mutation_p.V185A	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	415					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGAGCCCTTGTTAACTTCTTG	0.498													C	25777163	T	C	25777163	3	2	364	1	0	0	0	0	1	0	0	0	14513	1725	60	3	1278	3	SLC17A4	6	25777163	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49801	25777163	145337904	5102	28604											
TRIM38	10475	broad.mit.edu	37	chr6	25983700	25983700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaaagaaaggctatgtaGcacttacttctcccccaact	14	9	6	12	0	1	1	0	0	1	1	2	1	1	1	2	1	3	4	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:25983700G>T	ENST00000357085.3	+	8	1659	c.1183G>T	c.(1183-1185)Gca>Tca	p.A395S	TRIM38_ENST00000349458.3_Missense_Mutation_p.A395S	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	395	B30.2/SPRY.				positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						AGGCTATGTAGCACTTACTTC	0.493													T	25983700	G	T	25983700	3	4	364	1	0	0	0	0	1	0	0	0	16613	971	34	4	1205	4	TRIM38	6	25983700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206537	25983700	145131367	5103	28605											
HIST1H2AB	8335	broad.mit.edu	37	chr6	26033407	26033407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagcgttaactcttcaCtttcccttggccttatgatg	8	15	7	11	1	2	2	1	2	1	0	3	2	3	2	2	1	2	1	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26033407C>G	ENST00000259791.2	-	1	389	c.390G>C	c.(388-390)aaG>aaC	p.K130N		NM_003513.2	NP_003504.2	P04908	H2A1B_HUMAN	histone cluster 1, H2ab	130					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	8						TAACTCTTCACTTTCCCTTGG	0.488													G	26033407	C	G	26033407	3	3	364	1	0	0	0	0	1	0	0	0	7184	564	20	4	6	4	HIST1H2AB	6	26033407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49707	26033407	145081660	5104	28606											
HFE	3077	broad.mit.edu	37	chr6	26091280	26091280	+	Silent	SNP	C	C	T																															agtctgaaagggtgggatcaCatgttcactgttgacttctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091280C>T	ENST00000357618.5	+	2	410	c.288C>T	c.(286-288)caC>caT	p.H96H	HFE_ENST00000470149.1_Silent_p.H96H|HFE_ENST00000349999.4_Intron|HFE_ENST00000317896.7_Silent_p.H96H|HFE_ENST00000353147.5_Intron|HFE_ENST00000309234.6_Silent_p.H96H|HFE_ENST00000336625.8_Silent_p.H96H|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Silent_p.H96H|HFE_ENST00000397022.3_Silent_p.H73H	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	96	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGTGGGATCACATGTTCACTG	0.507									Hemochromatosis				T	26091280	C	T	26091280	2	4	364	1	0	0	0	0	0	0	0	1	7136	477	17	2		2	HFE	6	26091280	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57873	26091280	145023787	5105	28607	65	2									
HFE	3077	broad.mit.edu	37	chr6	26091284	26091284	+	Missense_Mutation	SNP	T	T	C																															tgaaagggtgggatcacatgTtcactgttgacttctggact																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26091284T>C	ENST00000357618.5	+	2	414	c.292T>C	c.(292-294)Ttc>Ctc	p.F98L	HFE_ENST00000470149.1_Missense_Mutation_p.F98L|HFE_ENST00000349999.4_Intron|HFE_ENST00000317896.7_Missense_Mutation_p.F98L|HFE_ENST00000353147.5_Intron|HFE_ENST00000309234.6_Missense_Mutation_p.F98L|HFE_ENST00000336625.8_Missense_Mutation_p.F98L|HFE_ENST00000352392.4_Intron|HFE_ENST00000488199.1_Intron|HFE_ENST00000461397.1_Missense_Mutation_p.F98L|HFE_ENST00000397022.3_Missense_Mutation_p.F75L	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	98	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGATCACATGTTCACTGTTGA	0.507									Hemochromatosis				C	26091284	T	C	26091284	3	2	364	1	0	0	0	0	1	0	0	0	7136	1725	60	3	298	3	HFE	6	26091284	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4	26091284	145023783	5106	28608	65	2									
HIST1H1E	3008	broad.mit.edu	37	chr6	26156764	26156764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcattactaaagctgttgCcgcctccaaggagcgcagcg	9	8	11	13	3	1	0	1	0	0	0	2	1	2	1	3	1	5	4	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26156764C>T	ENST00000304218.3	+	1	206	c.146C>T	c.(145-147)gCc>gTc	p.A49V		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	49	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAAGCTGTTGCCGCCTCCAAG	0.607													T	26156764	C	T	26156764	3	4	364	1	0	0	0	0	1	0	0	0	7181	739	26	2	148	2	HIST1H1E	6	26156764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65480	26156764	144958303	5107	28609											
HIST1H4E	8367	broad.mit.edu	37	chr6	26205090	26205090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattcgtgatgctgtgacttAcacggagcacgccaaacgca	11	8	11	11	4	0	2	0	2	0	0	1	4	0	3	1	1	4	3	1	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26205090A>G	ENST00000360441.4	+	1	233	c.218A>G	c.(217-219)tAc>tGc	p.Y73C		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	73					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				GCTGTGACTTACACGGAGCAC	0.557													G	26205090	A	G	26205090	3	3	364	1	0	0	0	0	1	0	0	0	7224	391	14	3	220	3	HIST1H4E	6	26205090	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48326	26205090	144909977	5108	28610											
HIST1H2BG	8339	broad.mit.edu	37	chr6	26216597	26216597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggcggtctggatctccctgGaggtaatggtcgagcgcttg	5	10	16	10	4	2	0	0	0	2	0	4	3	2	2	1	6	1	2	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26216597G>A	ENST00000244601.3	-	1	275	c.275C>T	c.(274-276)tCc>tTc	p.S92F		NM_003518.3	NP_003509.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bg	92					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding	p.S92C(1)		endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	8		all_hematologic(11;0.196)				GATCTCCCTGGAGGTAATGGT	0.582													A	26216597	G	A	26216597	3	1	364	1	0	0	0	0	1	0	0	0	7201	1174	41	2	109	2	HIST1H2BG	6	26216597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11507	26216597	144898470	5109	28611											
BTN2A2	10385	broad.mit.edu	37	chr6	26385353	26385353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgctgaggacatggaggtgCggtggttccggtctcagttc	6	11	16	8	2	1	1	1	1	1	0	4	3	2	3	1	6	2	3	1	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26385353C>T	ENST00000356709.4	+	3	316	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	BTN2A2_ENST00000469230.1_Missense_Mutation_p.R69W|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R69W|BTN2A2_ENST00000482536.1_Intron	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	69	Ig-like V-type.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CATGGAGGTGCGGTGGTTCCG	0.547													T	26385353	C	T	26385353	3	4	364	1	0	0	0	0	1	0	0	0	1571	759	27	1	211	1	BTN2A2	6	26385353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168756	26385353	144729714	5110	28612											
BTN2A2	10385	broad.mit.edu	37	chr6	26392884	26392884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaatggcttctggaccctgGagatgtttggaaaccaatac	12	10	11	8	0	1	2	0	0	1	2	1	5	1	4	2	4	2	2	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26392884G>A	ENST00000356709.4	+	8	1372	c.1261G>A	c.(1261-1263)Gag>Aag	p.E421K	BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000416795.2_Missense_Mutation_p.E421K|BTN2A2_ENST00000352867.2_Missense_Mutation_p.E305K|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Missense_Mutation_p.E211K	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	421	B30.2/SPRY.				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						CTGGACCCTGGAGATGTTTGG	0.562													A	26392884	G	A	26392884	3	1	364	1	0	0	0	0	1	0	0	0	1571	1175	41	2	1287	2	BTN2A2	6	26392884	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7531	26392884	144722183	5111	28613											
BTN3A1	11119	broad.mit.edu	37	chr6	26408056	26408056	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacctgtggttgcagaCggagtgggcctgtatgcagt	8	9	16	8	1	0	1	0	0	0	1	0	3	0	2	2	3	3	5	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26408056C>T	ENST00000414912.2	+	4	745	c.435C>T	c.(433-435)gaC>gaT	p.D145D	BTN3A1_ENST00000425234.2_Silent_p.D197D|BTN3A1_ENST00000289361.6_Silent_p.D197D|BTN3A1_ENST00000476549.2_Silent_p.D197D			O00481	BT3A1_HUMAN	butyrophilin, subfamily 3, member A1	197	Ig-like V-type 2.				lipid metabolic process	integral to membrane				breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TGGTTGCAGACGGAGTGGGCC	0.562													T	26408056	C	T	26408056	5	4	364	1	0	0	0	0	0	0	1	0	1572	550	19	1	601	1	BTN3A1	6	26408056	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15172	26408056	144707011	5112	28614											
BTN3A3	10384	broad.mit.edu	37	chr6	26451903	26451903	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcaaactctctgcagCggatgtgattctggatccag	8	11	9	13	1	3	1	1	1	2	0	6	3	5	3	3	2	3	1	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26451903C>T	ENST00000244519.2	+	11	1262	c.1019C>T	c.(1018-1020)gCg>gTg	p.A340V	BTN3A3_ENST00000361232.3_Splice_Site_p.A291V|BTN3A3_ENST00000339789.4_Splice_Site_p.A298V	NM_006994.4	NP_008925.1	O00478	BT3A3_HUMAN	butyrophilin, subfamily 3, member A3	340	B30.2/SPRY.					integral to membrane				cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	30						CTCTCTGCAGCGGATGTGATT	0.562													T	26451903	C	T	26451903	5	4	364	1	0	0	0	0	0	0	1	0	1574	782	27	1	1053	1	BTN3A3	6	26451903	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43847	26451903	144663164	5113	28615											
BTN2A1	11120	broad.mit.edu	37	chr6	26463635	26463635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccatgcctgatgcagaCggcctcttcatggtcaccac	7	10	9	15	1	4	2	2	1	2	1	5	2	4	2	4	2	2	1	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26463635C>T	ENST00000429381.1	+	4	806	c.594C>T	c.(592-594)gaC>gaT	p.D198D	BTN2A1_ENST00000469185.1_Silent_p.D198D|BTN2A1_ENST00000312541.5_Silent_p.D198D|BTN2A1_ENST00000541522.1_Silent_p.D137D			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	198					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CTGATGCAGACGGCCTCTTCA	0.557													T	26463635	C	T	26463635	2	4	364	1	0	0	0	0	0	0	0	1	1570	535	19	1		1	BTN2A1	6	26463635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11732	26463635	144651432	5114	28616											
BTN2A1	11120	broad.mit.edu	37	chr6	26465472	26465472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctatcattgtggttattCtgatgatacccattgccgta	8	16	8	9	1	2	2	1	2	1	0	2	2	2	2	3	1	3	2	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:26465472C>A	ENST00000429381.1	+	5	984	c.772C>A	c.(772-774)Ctg>Atg	p.L258M	BTN2A1_ENST00000469185.1_Missense_Mutation_p.L258M|BTN2A1_ENST00000312541.5_Missense_Mutation_p.L258M|BTN2A1_ENST00000541522.1_Missense_Mutation_p.L197M			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	258					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGTGGTTATTCTGATGATACC	0.428													A	26465472	C	A	26465472	3	1	364	1	0	0	0	0	1	0	0	0	1570	912	32	4	786	4	BTN2A1	6	26465472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1837	26465472	144649595	5115	28617											
HIST1H2BJ	8970	broad.mit.edu	37	chr6	27100169	27100169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttagcgctggtgtactTggtgacggccttagtaccct	6	14	11	10	2	0	1	0	1	0	0	0	1	0	1	2	3	4	3	2	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27100169T>C	ENST00000607124.1	-	1	360	c.361A>G	c.(361-363)Aag>Gag	p.K121E	HIST1H2BJ_ENST00000339812.2_Missense_Mutation_p.K121E|HIST1H2BJ_ENST00000541790.1_Missense_Mutation_p.K121E			P06899	H2B1J_HUMAN	histone cluster 1, H2bj	121					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(2)|lung(5)|ovary(1)|prostate(1)	10						CTGGTGTACTTGGTGACGGCC	0.562													C	27100169	T	C	27100169	3	2	364	1	0	0	0	0	1	0	0	0	7204	1821	63	3	23	3	HIST1H2BJ	6	27100169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	634697	27100169	144014898	5116	28618											
HIST1H1B	3009	broad.mit.edu	37	chr6	27834869	27834869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcactgcctttttcgcccCtgcagccttcttggccttct	2	16	6	17	1	3	0	1	0	2	0	4	0	3	0	5	1	3	1	5	1	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27834869C>T	ENST00000331442.3	-	1	490	c.439G>A	c.(439-441)Ggg>Agg	p.G147R		NM_005322.2	NP_005313.1	P16401	H15_HUMAN	histone cluster 1, H1b	147					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(12)|prostate(2)|upper_aerodigestive_tract(2)	24						TTTTTCGCCCCTGCAGCCTTC	0.637													T	27834869	C	T	27834869	3	4	364	1	0	0	0	0	1	0	0	0	7178	681	24	2	245	2	HIST1H1B	6	27834869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	734700	27834869	143280198	5117	28619											
HIST1H3I	8354	broad.mit.edu	37	chr6	27839709	27839709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcccctcggatgcggcGcgcaagctggatgtctttag	5	10	12	14	4	2	0	0	0	2	0	4	2	2	2	3	3	2	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27839709G>A	ENST00000328488.2	-	1	390	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C		NM_003533.2	NP_003524.1	P68431	H31_HUMAN	histone cluster 1, H3i	129					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						CGGATGCGGCGCGCAAGCTGG	0.532													A	27839709	G	A	27839709	3	1	364	1	0	0	0	0	1	0	0	0	7218	1087	38	1	29	1	HIST1H3I	6	27839709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4840	27839709	143275358	5118	28620											
OR2B2	81697	broad.mit.edu	37	chr6	27880070	27880070	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaacagaatgaactcctGtgggacactcttatttaccc	13	11	6	11	0	1	2	0	1	1	1	2	3	2	3	2	1	4	0	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:27880070G>A	ENST00000303324.2	-	1	104	c.28C>T	c.(28-30)Cag>Tag	p.Q10*		NM_033057.2	NP_149046.2	Q9GZK3	OR2B2_HUMAN	olfactory receptor, family 2, subfamily B, member 2	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(10)|prostate(1)|urinary_tract(1)	22						ATGAACTCCTGTGGGACACTC	0.368													A	27880070	G	A	27880070	4	1	364	1	0	0	0	0	0	1	0	0	11065	1386	48	2	1049	2	OR2B2	6	27880070	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40361	27880070	143234997	5119	28621											
ZNF165	7718	broad.mit.edu	37	chr6	28053407	28053407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcaggagctctgcaggcAgctttttaggcagttctgct	8	12	12	9	0	2	0	0	0	2	0	2	1	2	1	0	3	5	8	0	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28053407A>G	ENST00000377325.1	+	2	705	c.149A>G	c.(148-150)cAg>cGg	p.Q50R		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	50					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CTCTGCAGGCAGCTTTTTAGG	0.522													G	28053407	A	G	28053407	3	3	364	1	0	0	0	0	1	0	0	0	17841	188	7	3	151	3	ZNF165	6	28053407	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	173337	28053407	143061660	5120	28622											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093347	28093347	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagggaactctatagacaAcacttcaggaagctctgcta	14	8	10	9	0	3	1	1	0	2	1	3	4	3	4	0	3	4	2	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28093347A>G	ENST00000340487.4	+	2	275	c.126A>G	c.(124-126)caA>caG	p.Q42Q	ZSCAN16-AS1_ENST00000600652.1_RNA|ZSCAN16-AS1_ENST00000602810.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	42	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						TCTATAGACAACACTTCAGGA	0.522													G	28093347	A	G	28093347	2	3	364	1	0	0	0	0	0	0	0	1	18327	40	2	3		3	ZSCAN16	6	28093347	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39940	28093347	143021720	5121	28623											
PGBD1	84547	broad.mit.edu	37	chr6	28268753	28268753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgagcctgagatccaGcctgctcaaaagaagttaaa	16	8	9	8	0	1	3	1	2	0	2	2	5	2	3	3	0	3	2	3	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268753G>A	ENST00000405948.2	+	7	1542	c.1122G>A	c.(1120-1122)caG>caA	p.Q374Q	PGBD1_ENST00000259883.3_Silent_p.Q374Q	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	374					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						CTGAGATCCAGCCTGCTCAAA	0.433													A	28268753	G	A	28268753	2	1	364	1	0	0	0	0	0	0	0	1	11857	962	34	2		2	PGBD1	6	28268753	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	175406	28268753	142846314	5122	28624											
PGBD1	84547	broad.mit.edu	37	chr6	28268879	28268879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatctcaagagcgaaaaGttgaacccagtagagctttt	14	11	9	7	1	1	4	1	2	1	2	2	5	1	4	1	0	3	3	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28268879G>A	ENST00000405948.2	+	7	1668	c.1248G>A	c.(1246-1248)aaG>aaA	p.K416K	PGBD1_ENST00000259883.3_Silent_p.K416K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	416					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						AGAGCGAAAAGTTGAACCCAG	0.353													A	28268879	G	A	28268879	2	1	364	1	0	0	0	0	0	0	0	1	11857	1020	36	2		2	PGBD1	6	28268879	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126	28268879	142846188	5123	28625											
PGBD1	84547	broad.mit.edu	37	chr6	28269043	28269043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttttgagtggatttatgaGgcatcctagaagggaaatgt	12	13	12	4	0	0	3	0	2	0	1	1	5	1	5	1	3	0	1	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269043G>T	ENST00000405948.2	+	7	1832	c.1412G>T	c.(1411-1413)aGg>aTg	p.R471M	PGBD1_ENST00000259883.3_Missense_Mutation_p.R471M	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	471					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						GGATTTATGAGGCATCCTAGA	0.398													T	28269043	G	T	28269043	3	4	364	1	0	0	0	0	1	0	0	0	11857	1000	35	4	1434	4	PGBD1	6	28269043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164	28269043	142846024	5124	28626											
PGBD1	84547	broad.mit.edu	37	chr6	28269621	28269621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtccccttatgaatgtaGaacatatgaaaaaaatgaag	19	10	7	5	0	0	4	0	3	0	1	1	4	1	4	2	0	1	1	2	0	10	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28269621G>A	ENST00000405948.2	+	7	2410	c.1990G>A	c.(1990-1992)Gaa>Aaa	p.E664K	PGBD1_ENST00000259883.3_Missense_Mutation_p.E664K	NM_001184743.1|NM_032507.3	NP_001171672.1|NP_115896.1	Q96JS3	PGBD1_HUMAN	piggyBac transposable element derived 1	664					viral reproduction	membrane|nucleus	scavenger receptor activity|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	41						TATGAATGTAGAACATATGAA	0.383													A	28269621	G	A	28269621	3	1	364	1	0	0	0	0	1	0	0	0	11857	943	33	2	2012	2	PGBD1	6	28269621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	578	28269621	142845446	5125	28627											
ZKSCAN3	80317	broad.mit.edu	37	chr6	28327415	28327415	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgcccagtctacagaaGaccagatggagcttctggtc	10	9	12	10	0	2	3	0	0	2	3	3	5	2	5	2	3	3	1	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28327415G>T	ENST00000377255.3	+	3	349	c.52G>T	c.(52-54)Gac>Tac	p.D18Y	ZKSCAN3_ENST00000252211.2_Missense_Mutation_p.D18Y|ZKSCAN3_ENST00000341464.5_Intron	NM_001242894.1	NP_001229823.1	Q9BRR0	ZKSC3_HUMAN	zinc finger with KRAB and SCAN domains 3	18					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	chromatin binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(8)|pancreas(1)|skin(2)|stomach(2)|urinary_tract(1)	21						GTCTACAGAAGACCAGATGGA	0.547													T	28327415	G	T	28327415	3	4	364	1	0	0	0	0	1	0	0	0	17789	942	33	4	54	4	ZKSCAN3	6	28327415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57794	28327415	142787652	5126	28628											
ZNF311	282890	broad.mit.edu	37	chr6	28964268	28964268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaatcaacttttaggaGactgttaaatttcatccagt	12	13	8	8	1	2	1	2	0	0	1	3	3	3	2	2	2	1	1	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:28964268G>T	ENST00000377179.3	-	7	1023	c.511C>A	c.(511-513)Ctc>Atc	p.L171I	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACTTTTAGGAGACTGTTAAAT	0.388													T	28964268	G	T	28964268	3	4	364	1	0	0	0	0	1	0	0	0	17935	942	33	4	1493	4	ZNF311	6	28964268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	636853	28964268	142150799	5127	28629											
OR2J3	442186	broad.mit.edu	37	chr6	29079847	29079847	+	Silent	SNP	A	A	T																															ctggactcccatctgcacacAccaatgtacttcttcctttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079847A>T	ENST00000377169.1	+	1	180	c.180A>T	c.(178-180)acA>acT	p.T60T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						ATCTGCACACACCAATGTACT	0.453													T	29079847	A	T	29079847	2	4	364	1	0	0	0	0	0	0	0	1	11080	146	6	5		5	OR2J3	6	29079847	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	115579	29079847	142035220	5128	28630	66	2									
OR2J3	442186	broad.mit.edu	37	chr6	29079850	29079850	+	Silent	SNP	A	A	C																															gactcccatctgcacacaccAatgtacttcttcctttcaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29079850A>C	ENST00000377169.1	+	1	183	c.183A>C	c.(181-183)ccA>ccC	p.P61P		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	61					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						TGCACACACCAATGTACTTCT	0.458													C	29079850	A	C	29079850	2	2	364	1	0	0	0	0	0	0	0	1	11080	117	5	5		5	OR2J3	6	29079850	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3	29079850	142035217	5129	28631	66	2									
OR5V1	81696	broad.mit.edu	37	chr6	29323529	29323529	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaggaaaccagcagcccaGcatgaggctgctaattgatt	13	9	10	9	0	0	2	0	2	0	0	0	3	0	3	2	2	5	4	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29323529G>T	ENST00000377154.1	-	4	743	c.444C>A	c.(442-444)tgC>tgA	p.C148*	OR5V1_ENST00000543825.1_Nonsense_Mutation_p.C148*			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CAGCAGCCCAGCATGAGGCTG	0.433													T	29323529	G	T	29323529	4	4	364	1	0	0	0	0	0	1	0	0	11260	963	34	4	524	4	OR5V1	6	29323529	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243679	29323529	141791538	5130	28632											
OR12D2	26529	broad.mit.edu	37	chr6	29365287	29365287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttcatggaccaggacCggattgttgccatcatgtac	10	10	11	10	1	2	1	2	0	0	1	2	4	2	4	3	3	3	3	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29365287C>T	ENST00000383555.2	+	1	872	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						GGACCAGGACCGGATTGTTGC	0.468													T	29365287	C	T	29365287	3	4	364	1	0	0	0	0	1	0	0	0	11007	643	23	1	813	1	OR12D2	6	29365287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41758	29365287	141749780	5131	28633											
OR11A1	26531	broad.mit.edu	37	chr6	29394836	29394836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagttgtcacctgagccaCtctgggatccgagcaagcca	10	7	12	12	1	2	2	1	1	1	1	3	5	3	3	4	1	3	2	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29394836C>T	ENST00000377149.1	-	5	1055	c.583G>A	c.(583-585)Gtg>Atg	p.V195M	OR11A1_ENST00000377147.2_Missense_Mutation_p.V195M|OR11A1_ENST00000377148.1_Missense_Mutation_p.V195M|OR5V1_ENST00000377154.1_Intron			Q9GZK7	O11A1_HUMAN	olfactory receptor, family 11, subfamily A, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|large_intestine(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	19						ACCTGAGCCACTCTGGGATCC	0.522													T	29394836	C	T	29394836	3	4	364	1	0	0	0	0	1	0	0	0	11000	565	20	2	368	2	OR11A1	6	29394836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29549	29394836	141720231	5132	28634											
UBD	10537	broad.mit.edu	37	chr6	29523970	29523970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgccataagatgagaggCttctccgtggctttaagatc	11	11	10	9	1	1	3	0	1	1	3	3	4	1	3	2	2	1	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29523970C>T	ENST00000377050.4	-	2	408	c.185G>A	c.(184-186)aGc>aAc	p.S62N	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	62	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						AGATGAGAGGCTTCTCCGTGG	0.483													T	29523970	C	T	29523970	3	4	364	1	0	0	0	0	1	0	0	0	16945	797	28	2	316	2	UBD	6	29523970	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129134	29523970	141591097	5133	28635											
GABBR1	2550	broad.mit.edu	37	chr6	29577076	29577076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgcccaggctggagagaaCtgagacggagataaagagtt	15	6	14	6	1	0	4	0	1	0	4	0	8	0	5	1	3	2	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29577076C>T	ENST00000377034.4	-	15	2124	c.1789G>A	c.(1789-1791)Gtt>Att	p.V597I	GABBR1_ENST00000377016.4_Missense_Mutation_p.V535I|GABBR1_ENST00000377012.4_Missense_Mutation_p.V480I|GABBR1_ENST00000355973.3_Missense_Mutation_p.V480I|GABBR1_ENST00000376977.3_Intron	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	597					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	CTGGAGAGAACTGAGACGGAG	0.517													T	29577076	C	T	29577076	3	4	364	1	0	0	0	0	1	0	0	0	6207	565	20	2	1132	2	GABBR1	6	29577076	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53106	29577076	141537991	5134	28636											
GABBR1	2550	broad.mit.edu	37	chr6	29589570	29589570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcagtctcatagaaaagtcCcacgatgattcgggcatcct	11	11	8	11	2	2	2	2	1	1	1	6	3	4	2	2	1	0	1	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29589570C>T	ENST00000377034.4	-	10	1425	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	GABBR1_ENST00000377016.4_Missense_Mutation_p.G302R|GABBR1_ENST00000377012.4_Missense_Mutation_p.G247R|GABBR1_ENST00000355973.3_Missense_Mutation_p.G247R|GABBR1_ENST00000376977.3_Missense_Mutation_p.G364R	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	364					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	TAGAAAAGTCCCACGATGATT	0.527													T	29589570	C	T	29589570	3	4	364	1	0	0	0	0	1	0	0	0	6207	632	22	2	1851	2	GABBR1	6	29589570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12494	29589570	141525497	5135	28637											
GABBR1	2550	broad.mit.edu	37	chr6	29591181	29591181	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttgtggagtgtggctgaTgggtgcgttcggaagaaagt	7	11	20	3	2	0	2	0	1	0	1	1	4	0	4	0	5	1	3	0	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29591181T>C	ENST00000377034.4	-	8	1199	c.864A>G	c.(862-864)ccA>ccG	p.P288P	GABBR1_ENST00000377016.4_Silent_p.P226P|GABBR1_ENST00000377012.4_Silent_p.P171P|GABBR1_ENST00000355973.3_Silent_p.P171P|GABBR1_ENST00000376977.3_Silent_p.P288P	NM_001470.2	NP_001461.1	Q9UBS5	GABR1_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 1	288					gamma-aminobutyric acid signaling pathway|negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|extracellular region|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity			endometrium(3)|kidney(1)|large_intestine(13)|liver(1)|lung(16)|ovary(5)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47					Baclofen(DB00181)|Progabide(DB00837)	GTGTGGCTGATGGGTGCGTTC	0.562													C	29591181	T	C	29591181	2	2	364	1	0	0	0	0	0	0	0	1	6207	1451	51	3		3	GABBR1	6	29591181	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1611	29591181	141523886	5136	28638											
HLA-A	3105	broad.mit.edu	37	chr6	29912306	29912306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccaccatccccatcGtgggcatcattgctggcctg	6	8	9	18	1	1	0	1	0	0	0	3	0	2	0	6	2	2	2	6	2	0	1	rs45542447		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:29912306G>A	ENST00000396634.1	+	7	1266	c.925G>A	c.(925-927)Gtg>Atg	p.V309M	HLA-A_ENST00000376802.2_Intron|HLA-A_ENST00000376809.5_Missense_Mutation_p.V309M|HLA-A_ENST00000376806.5_Missense_Mutation_p.V309M			P30443	1A01_HUMAN	major histocompatibility complex, class I, A	309					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to plasma membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	30						CATCCCCATCGTGGGCATCAT	0.597									Osteosarcoma, Familial Clustering of;Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of;Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Multiple Myeloma(9;0.094)			A	29912306	G	A	29912306	3	1	364	1	0	0	0	0	1	0	0	0	7250	1145	40	1	943	1	HLA-A	6	29912306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	321125	29912306	141202761	5137	28639											
TRIM40	135644	broad.mit.edu	37	chr6	30114957	30114957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattgatctggaaaggacgGccaaggaattagacaccaac	15	7	10	9	1	2	2	1	1	1	1	2	5	2	5	2	4	1	0	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30114957G>A	ENST00000396581.1	+	4	1023	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	TRIM40_ENST00000307859.4_Missense_Mutation_p.A184T|TRIM40_ENST00000376724.2_Missense_Mutation_p.A213T			Q6P9F5	TRI40_HUMAN	tripartite motif containing 40	213						intracellular	zinc ion binding			ovary(1)	1						GGAAAGGACGGCCAAGGAATT	0.572													A	30114957	G	A	30114957	3	1	364	1	0	0	0	0	1	0	0	0	16616	1203	42	2	560	2	TRIM40	6	30114957	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202651	30114957	141000110	5138	28640											
TRIM10	10107	broad.mit.edu	37	chr6	30122144	30122144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccagaacacaggtggcccGgtcaaaacgttgggggttgt	9	7	16	9	2	1	1	1	0	0	1	1	1	1	1	2	6	2	2	2	6	3	2	rs146058085	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30122144G>A	ENST00000449742.2	-	7	1123	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	TRIM10_ENST00000376704.3_Missense_Mutation_p.R350W	NM_006778.3	NP_006769.2	Q9UDY6	TRI10_HUMAN	tripartite motif containing 10	350	B30.2/SPRY.					cytoplasm	zinc ion binding			ovary(1)	1						CAGGTGGCCCGGTCAAAACGT	0.607													A	30122144	G	A	30122144	3	1	364	1	0	0	0	0	1	0	0	0	16587	1115	39	1	489	1	TRIM10	6	30122144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7187	30122144	140992923	5139	28641											
RPP21	79897	broad.mit.edu	37	chr6	30313002	30313002	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggctcaacttcctgtaCcaggtgagtctgcgacaagg	10	8	12	11	1	2	2	1	1	1	1	3	3	3	2	2	3	3	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30313002C>A	ENST00000428040.2	+	1	67	c.54C>A	c.(52-54)taC>taA	p.Y18*	TRIM39-RPP21_ENST00000513556.1_Intron|RPP21_ENST00000466327.1_3'UTR|RPP21_ENST00000436442.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000433076.2_Nonsense_Mutation_p.Y18*|RPP21_ENST00000442966.2_Nonsense_Mutation_p.Y18*					ribonuclease P/MRP 21kDa subunit											endometrium(2)|ovary(1)|prostate(1)	4						ACTTCCTGTACCAGGTGAGTC	0.711													A	30313002	C	A	30313002	4	1	364	1	0	0	0	0	0	1	0	0	13701	518	18	4	56	4	RPP21	6	30313002	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190858	30313002	140802065	5140	28642											
HLA-E	3133	broad.mit.edu	37	chr6	30459017	30459017	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggagatcacactgacctgGcagcaggatggggagggcca	10	4	17	10	1	1	2	1	1	0	1	1	5	1	4	2	6	1	2	2	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30459017G>A	ENST00000376630.4	+	4	779	c.714G>A	c.(712-714)tgG>tgA	p.W238*		NM_005516.5	NP_005507.3	P13747	HLAE_HUMAN	major histocompatibility complex, class I, E	238	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(2)|lung(1)|ovary(3)|skin(1)|urinary_tract(1)	18						CACTGACCTGGCAGCAGGATG	0.632													A	30459017	G	A	30459017	4	1	364	1	0	0	0	0	0	1	0	0	7265	1212	42	2	728	2	HLA-E	6	30459017	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146015	30459017	140656050	5141	28643											
ABCF1	23	broad.mit.edu	37	chr6	30553102	30553102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacctggacctcaacgCtgtcatctggcttaataagt	11	10	7	13	1	3	0	2	0	1	0	3	1	3	1	3	2	2	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30553102C>A	ENST00000326195.8	+	15	1569	c.1457C>A	c.(1456-1458)gCt>gAt	p.A486D	ABCF1_ENST00000376545.3_Missense_Mutation_p.A448D|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	486	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GACCTCAACGCTGTCATCTGG	0.557													A	30553102	C	A	30553102	3	1	364	1	0	0	0	0	1	0	0	0	65	797	28	4	1515	4	ABCF1	6	30553102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94085	30553102	140561965	5142	28644											
PPP1R10	5514	broad.mit.edu	37	chr6	30570286	30570286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaggaggaggaggaggttCgtttcctcctcggccacctc	7	8	15	11	2	0	0	0	0	0	0	5	5	2	5	4	7	0	2	4	7	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30570286C>T	ENST00000376511.2	-	19	2692	c.2140G>A	c.(2140-2142)Gaa>Aaa	p.E714K		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	714	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						ggaggaggTTCGTTTCCTCCT	0.682													T	30570286	C	T	30570286	3	4	364	1	0	0	0	0	1	0	0	0	12434	893	31	1	690	1	PPP1R10	6	30570286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17184	30570286	140544781	5143	28645											
PPP1R10	5514	broad.mit.edu	37	chr6	30571787	30571787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaccccactctgctcacctCtccttgttcaggaagagctc	8	10	7	16	0	4	1	2	0	2	1	6	3	4	2	4	1	3	3	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30571787C>T	ENST00000376511.2	-	14	2058	c.1506G>A	c.(1504-1506)gaG>gaA	p.E502E		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	502	Interaction with WDR82 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						CTGCTCACCTCTCCTTGTTCA	0.542													T	30571787	C	T	30571787	2	4	364	1	0	0	0	0	0	0	0	1	12434	912	32	2		2	PPP1R10	6	30571787	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1501	30571787	140543280	5144	28646											
C6orf136	221545	broad.mit.edu	37	chr6	30617356	30617356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctttatccagggactCtaccattcccacccctttgg	8	11	6	16	0	1	0	0	0	1	0	3	1	3	1	6	2	2	1	6	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30617356C>A	ENST00000293604.6	+	2	830	c.637C>A	c.(637-639)Cta>Ata	p.L213I	C6orf136_ENST00000376471.4_Intron|C6orf136_ENST00000493705.1_3'UTR|C6orf136_ENST00000376473.5_Missense_Mutation_p.L32I	NM_001161376.1	NP_001154848.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136	32										endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						TCCAGGGACTCTACCATTCCC	0.547													A	30617356	C	A	30617356	3	1	364	1	0	0	0	0	1	0	0	0	2353	912	32	4	643	4	C6orf136	6	30617356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45569	30617356	140497711	5145	28647											
DHX16	8449	broad.mit.edu	37	chr6	30623075	30623075	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgaactgtacaaagttCtcatagcaccactgggaaga	14	9	9	9	0	2	2	1	1	2	1	3	4	2	3	1	1	3	3	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30623075C>A	ENST00000376442.3	-	18	2895	c.2700G>T	c.(2698-2700)gaG>gaT	p.E900D	DHX16_ENST00000376437.5_Missense_Mutation_p.E419D	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	900					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GTACAAAGTTCTCATAGCACC	0.512													A	30623075	C	A	30623075	3	1	364	1	0	0	0	0	1	0	0	0	4541	912	32	4	437	4	DHX16	6	30623075	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5719	30623075	140491992	5146	28648											
NRM	11270	broad.mit.edu	37	chr6	30656463	30656463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccccatcctggggcCgagagagcaggtggagtttt	6	9	14	12	1	0	1	0	0	0	1	2	4	2	2	5	4	2	2	5	4	0	2	rs139617550		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30656463C>T	ENST00000259953.4	-	5	1115	c.764G>A	c.(763-765)cGg>cAg	p.R255Q	NRM_ENST00000376420.5_Missense_Mutation_p.R196Q|NRM_ENST00000470733.1_5'UTR|NRM_ENST00000376421.5_Missense_Mutation_p.R255Q	NM_007243.2	NP_009174.1	Q8IXM6	NRM_HUMAN	nurim (nuclear envelope membrane protein)	255						integral to membrane|nuclear inner membrane				large_intestine(1)|lung(2)	3						ATCCTGGGGCCGAGAGAGCAG	0.572													T	30656463	C	T	30656463	3	4	364	1	0	0	0	0	1	0	0	0	10733	652	23	1	28	1	NRM	6	30656463	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33388	30656463	140458604	5147	28649											
MDC1	9656	broad.mit.edu	37	chr6	30671864	30671864	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgacaggagattggaatTcaggggtggtaggaaccggc	10	8	18	5	1	1	2	1	1	0	1	1	5	1	4	1	8	1	1	1	8	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671864T>G	ENST00000376406.3	-	10	5743	c.5096A>C	c.(5095-5097)gAa>gCa	p.E1699A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.E1435A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1699	Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGATTGGAATTCAGGGGTGGT	0.557								Other conserved DNA damage response genes					G	30671864	T	G	30671864	3	3	364	1	0	0	0	0	1	0	0	0	9478	1783	62	5	1197	5	MDC1	6	30671864	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15401	30671864	140443203	5148	28650											
MDC1	9656	broad.mit.edu	37	chr6	30671921	30671921	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacctcagtgttttgctcTgaccaccctgagctatggcc	8	11	9	13	0	2	3	1	2	1	1	2	3	2	3	4	1	2	3	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30671921T>C	ENST00000376406.3	-	10	5686	c.5039A>G	c.(5038-5040)cAg>cGg	p.Q1680R	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.Q1416R	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1680					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						TGTTTTGCTCTGACCACCCTG	0.542								Other conserved DNA damage response genes					C	30671921	T	C	30671921	3	2	364	1	0	0	0	0	1	0	0	0	9478	1580	55	3	1254	3	MDC1	6	30671921	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57	30671921	140443146	5149	28651											
MDC1	9656	broad.mit.edu	37	chr6	30672521	30672521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtcttgacagaggatCtatctgttcttcccctagta	9	13	9	10	0	4	2	0	1	4	1	5	4	5	4	2	2	0	2	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30672521C>A	ENST00000376406.3	-	10	5086	c.4439G>T	c.(4438-4440)aGa>aTa	p.R1480I	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.R1216I	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1480	Interaction with the PRKDC complex.				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						GACAGAGGATCTATCTGTTCT	0.587								Other conserved DNA damage response genes					A	30672521	C	A	30672521	3	1	364	1	0	0	0	0	1	0	0	0	9478	913	32	4	1854	4	MDC1	6	30672521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	600	30672521	140442546	5150	28652											
MDC1	9656	broad.mit.edu	37	chr6	30675488	30675488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctgccctttctggtcCtggctccctccctctggctc	1	12	10	18	0	2	0	0	0	2	0	6	1	5	0	5	4	1	2	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30675488C>A	ENST00000376406.3	-	8	3515	c.2868G>T	c.(2866-2868)caG>caT	p.Q956H	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Intron	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	956				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTTCTGGTCCTGGCTCCCTC	0.622								Other conserved DNA damage response genes					A	30675488	C	A	30675488	3	1	364	1	0	0	0	0	1	0	0	0	9478	680	24	4	3433	4	MDC1	6	30675488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2967	30675488	140439579	5151	28653											
MDC1	9656	broad.mit.edu	37	chr6	30679881	30679881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctctcctgcttaagaacaGctgcagcccactctgcccca	8	9	6	18	0	2	1	0	0	2	1	4	1	3	1	4	0	6	3	4	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30679881G>A	ENST00000376406.3	-	5	2485	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.A613V	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	613					cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTTAAGAACAGCTGCAGCCCA	0.582								Other conserved DNA damage response genes					A	30679881	G	A	30679881	3	1	364	1	0	0	0	0	1	0	0	0	9478	971	34	2	4475	2	MDC1	6	30679881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4393	30679881	140435186	5152	28654											
MDC1	9656	broad.mit.edu	37	chr6	30680174	30680174	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgtccactgtggtggaGgcttggcttctctccaggtg	4	14	14	9	0	1	1	0	1	1	0	4	2	3	2	2	5	0	2	2	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680174G>T	ENST00000376406.3	-	5	2192	c.1545C>A	c.(1543-1545)gcC>gcA	p.A515A	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.A515A	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	515	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTGTGGTGGAGGCTTGGCTTC	0.512								Other conserved DNA damage response genes					T	30680174	G	T	30680174	2	4	364	1	0	0	0	0	0	0	0	1	9478	987	35	4		4	MDC1	6	30680174	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293	30680174	140434893	5153	28655											
MDC1	9656	broad.mit.edu	37	chr6	30680666	30680666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctactccatggaagatCttcctcttcttcataggaat	10	14	6	11	0	4	1	1	0	3	1	6	3	6	3	3	2	2	1	3	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30680666C>A	ENST00000376406.3	-	5	1700	c.1053G>T	c.(1051-1053)aaG>aaT	p.K351N	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Missense_Mutation_p.K351N	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	351	Required for nuclear localization (NLS1).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CATGGAAGATCTTCCTCTTCT	0.542								Other conserved DNA damage response genes					A	30680666	C	A	30680666	3	1	364	1	0	0	0	0	1	0	0	0	9478	912	32	4	5260	4	MDC1	6	30680666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492	30680666	140434401	5154	28656											
TUBB	203068	broad.mit.edu	37	chr6	30690417	30690417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctgtgtactacaatgaagCcacaggtaagggcaggagcc	12	7	12	10	0	1	1	0	1	1	0	1	2	1	2	2	3	4	3	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30690417C>T	ENST00000396389.1	+	2	700	c.107C>T	c.(106-108)gCc>gTc	p.A36V	TUBB_ENST00000327892.8_Missense_Mutation_p.A54V|TUBB_ENST00000330914.3_5'UTR|TUBB_ENST00000435534.1_Missense_Mutation_p.A54V|TUBB_ENST00000396384.1_5'UTR			P07437	TBB5_HUMAN	tubulin, beta class I	54					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	TACAATGAAGCCACAGGTAAG	0.582													T	30690417	C	T	30690417	3	4	364	1	0	0	0	0	1	0	0	0	16854	739	26	2	167	2	TUBB	6	30690417	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9751	30690417	140424650	5155	28657											
TUBB	203068	broad.mit.edu	37	chr6	30691217	30691217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacggaaggaggcagagagCtgtgactgcctgcagggctt	9	7	17	8	1	0	2	0	1	0	1	0	5	0	4	1	4	4	5	1	4	2	2	rs147158826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30691217C>T	ENST00000396389.1	+	4	917	c.324C>T	c.(322-324)agC>agT	p.S108S	XXbac-BPG252P9.9_ENST00000607476.1_RNA|TUBB_ENST00000327892.8_Silent_p.S126S|TUBB_ENST00000330914.3_Silent_p.S54S|TUBB_ENST00000435534.1_Intron|TUBB_ENST00000396384.1_Silent_p.S54S			P07437	TBB5_HUMAN	tubulin, beta class I	126					cellular component movement|G2/M transition of mitotic cell cycle|microtubule-based movement|natural killer cell mediated cytotoxicity|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|MHC class I protein binding			breast(1)|endometrium(1)|kidney(8)|large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	16					Colchicine(DB01394)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)	AGGCAGAGAGCTGTGACTGCC	0.592													T	30691217	C	T	30691217	2	4	364	1	0	0	0	0	0	0	0	1	16854	796	28	2		2	TUBB	6	30691217	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	800	30691217	140423850	5156	28658											
IER3	8870	broad.mit.edu	37	chr6	30711721	30711721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtcacagttagaaggCggccgggtgttgctggagga	8	7	20	6	2	1	1	1	0	0	1	1	4	1	4	1	7	1	3	1	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30711721C>T	ENST00000259874.5	-	2	498	c.463G>A	c.(463-465)Gcc>Acc	p.A155T	IER3_ENST00000376377.2_3'UTR	NM_003897.3	NP_003888.2	P46695	IEX1_HUMAN	immediate early response 3	155					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						AGTTAGAAGGCGGCCGGGTGT	0.592													T	30711721	C	T	30711721	3	4	364	1	0	0	0	0	1	0	0	0	7564	768	27	1	11	1	IER3	6	30711721	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20504	30711721	140403346	5157	28659											
DDR1	780	broad.mit.edu	37	chr6	30860315	30860315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagcgaaatctccttcatCtctggtaagccctggagtag	9	12	9	11	1	4	0	2	0	2	0	6	2	4	1	2	2	2	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30860315C>T	ENST00000324771.8	+	10	1643	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	DDR1_ENST00000376570.4_Silent_p.I365I|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000376569.3_Silent_p.I365I|DDR1_ENST00000376568.3_Silent_p.I365I|DDR1_ENST00000361741.4_Silent_p.I96I|DDR1_ENST00000376575.3_Silent_p.I365I|DDR1_ENST00000513240.1_Silent_p.I365I|DDR1_ENST00000376567.2_Silent_p.I365I|DDR1_ENST00000508312.1_Silent_p.I383I|DDR1_ENST00000454612.2_Silent_p.I365I|DDR1_ENST00000418800.2_Silent_p.I365I|DDR1_ENST00000452441.1_Silent_p.I365I			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	365					cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular region|integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	TCTCCTTCATCTCTGGTAAGC	0.537													T	30860315	C	T	30860315	2	4	364	1	0	0	0	0	0	0	0	1	4370	903	32	2		2	DDR1	6	30860315	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148594	30860315	140254752	5158	28660											
VARS2	57176	broad.mit.edu	37	chr6	30889947	30889947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggaaacgggcagcgacCttctgctgttctgggtgggc	5	12	15	9	2	2	0	0	0	2	0	2	2	2	1	1	4	3	3	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30889947C>A	ENST00000321897.5	+	19	2493	c.1861C>A	c.(1861-1863)Ctt>Att	p.L621I	VARS2_ENST00000416670.2_Missense_Mutation_p.L621I|VARS2_ENST00000541562.1_Missense_Mutation_p.L651I|VARS2_ENST00000476162.1_3'UTR|VARS2_ENST00000542001.1_Missense_Mutation_p.L481I			Q5ST30	SYVM_HUMAN	valyl-tRNA synthetase 2, mitochondrial	621					valyl-tRNA aminoacylation	mitochondrion	ATP binding|valine-tRNA ligase activity			central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(3)|prostate(3)|skin(4)|urinary_tract(1)	46						GGGCAGCGACCTTCTGCTGTT	0.622													A	30889947	C	A	30889947	3	1	364	1	0	0	0	0	1	0	0	0	17226	681	24	4	2029	4	VARS2	6	30889947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29632	30889947	140225120	5159	28661											
MUC21	394263	broad.mit.edu	37	chr6	30954212	30954212	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacaacctccagtgggaTcagcacagccaccaactctg	12	6	7	16	0	2	0	1	0	1	0	3	1	3	1	5	1	5	1	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:30954212T>G	ENST00000376296.3	+	2	501	c.260T>G	c.(259-261)aTc>aGc	p.I87S	MUC21_ENST00000486149.2_De_novo_Start_InFrame	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	87	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						TCCAGTGGGATCAGCACAGCC	0.577													G	30954212	T	G	30954212	3	3	364	1	0	0	0	0	1	0	0	0	10053	1435	50	5	266	5	MUC21	6	30954212	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64265	30954212	140160855	5160	28662											
TCF19	6941	broad.mit.edu	37	chr6	31129330	31129330	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggaaccagcccctcGgagttctacttcatgttcca	8	9	7	17	1	2	0	1	0	1	0	4	2	3	2	6	2	3	2	6	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31129330G>A	ENST00000376257.3	+	3	1099	c.345G>A	c.(343-345)tcG>tcA	p.S115S	TCF19_ENST00000376255.4_Silent_p.S115S|TCF19_ENST00000496421.1_3'UTR	NM_007109.2	NP_009040.2	Q9Y242	TCF19_HUMAN	transcription factor 19	115					cell proliferation|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CCAGCCCCTCGGAGTTCTACT	0.562													A	31129330	G	A	31129330	2	1	364	1	0	0	0	0	0	0	0	1	15789	1103	39	1		1	TCF19	6	31129330	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	175118	31129330	139985737	5161	28663											
HLA-B	3106	broad.mit.edu	37	chr6	31323155	31323155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatggcatgtgtatctctgCtcttctccagaaggcaccac	9	11	8	13	0	3	1	0	0	3	1	5	1	3	1	2	2	1	4	2	2	2	2	rs1065502		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31323155C>T	ENST00000412585.2	-	4	862	c.834G>A	c.(832-834)gaG>gaA	p.E278E		NM_005514.6	NP_005505.2			major histocompatibility complex, class I, B											endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						TGTATCTCTGCTCTTCTCCAG	0.567									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of				T	31323155	C	T	31323155	2	4	364	1	0	0	0	0	0	0	0	1	7251	796	28	2		2	HLA-B	6	31323155	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193825	31323155	139791912	5162	28664											
MICA	100507436	broad.mit.edu	37	chr6	31378368	31378368	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgtcctgggatggatCtgtgcagtcagggtttcttg	4	14	16	7	0	3	0	1	0	2	0	4	2	4	2	1	4	2	3	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31378368C>A	ENST00000449934.2	+	2	173	c.119C>A	c.(118-120)tCt>tAt	p.S40Y	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	40					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TGGGATGGATCTGTGCAGTCA	0.532													A	31378368	C	A	31378368	3	1	364	1	0	0	0	0	1	0	0	0	9643	913	32	4	125	4	MICA	6	31378368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55213	31378368	139736699	5163	28665											
MICA	100507436	broad.mit.edu	37	chr6	31379113	31379113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actacggcgatatctagaatCcggcgtagtcctgaggagaa	12	8	12	9	4	1	3	0	1	1	2	3	5	3	3	2	3	1	1	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31379113C>T	ENST00000449934.2	+	3	644	c.590C>T	c.(589-591)tCc>tTc	p.S197F	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	197					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				TATCTAGAATCCGGCGTAGTC	0.537													T	31379113	C	T	31379113	3	4	364	1	0	0	0	0	1	0	0	0	9643	855	30	2	600	2	MICA	6	31379113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	745	31379113	139735954	5164	28666											
CSNK2B	1460	broad.mit.edu	37	chr6	31634614	31634614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagctgacgtgaagatgagCagctcagaggaggtgtcctg	10	8	15	8	1	1	5	1	3	0	2	2	6	2	6	1	2	3	3	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31634614C>T	ENST00000375880.2	+	2	124	c.6C>T	c.(4-6)agC>agT	p.S2S	CSNK2B_ENST00000375866.2_Silent_p.S2S|CSNK2B_ENST00000375882.2_Silent_p.S2S|CSNK2B_ENST00000375885.4_Silent_p.S21S|CSNK2B_ENST00000375865.2_Silent_p.S2S																							TGAAGATGAGCAGCTCAGAGG	0.512													T	31634614	C	T	31634614	2	4	364	1	0	0	0	0	0	0	0	1	3992	709	25	2		2	CSNK2B	6	31634614	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255501	31634614	139480453	5165	28667											
LY6G5C	80741	broad.mit.edu	37	chr6	31646976	31646976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttggtctccaagaggcatCggtagcagcgcaggtatttg	8	10	13	10	2	1	1	0	0	1	1	3	1	1	1	2	4	2	5	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31646976C>T	ENST00000375858.3	-	2	190	c.182G>A	c.(181-183)cGa>cAa	p.R61Q	LY6G5C_ENST00000375860.2_Missense_Mutation_p.R62Q|LY6G5C_ENST00000383237.4_Missense_Mutation_p.R64Q|LY6G5C_ENST00000474395.1_5'UTR	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	64	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						CAAGAGGCATCGGTAGCAGCG	0.527													T	31646976	C	T	31646976	3	4	364	1	0	0	0	0	1	0	0	0	9164	884	31	1	269	1	LY6G5C	6	31646976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12362	31646976	139468091	5166	28668											
LY6G6D	58530	broad.mit.edu	37	chr6	31675698	31675698	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccccctgcaatgtcctcCtgtgctctgtggtccccagc	4	11	9	17	0	1	0	0	0	1	0	5	1	5	0	6	1	3	2	6	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31675698C>A	ENST00000503322.1	+	3	436	c.433C>A	c.(433-435)Ctg>Atg	p.L145M	LY6G6F_ENST00000375832.4_Missense_Mutation_p.L145M|LY6G6F_ENST00000556581.1_Missense_Mutation_p.L145M|XXbac-BPG32J3.20_ENST00000461287.1_Intron																							CAATGTCCTCCTGTGCTCTGT	0.607													A	31675698	C	A	31675698	3	1	364	1	0	0	0	0	1	0	0	0	9166	680	24	4		4	LY6G6D	6	31675698	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28722	31675698	139439369	5167	28669											
DDAH2	23564	broad.mit.edu	37	chr6	31696257	31696257	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgccacgatctcagctcCtcggtgattggtccatttgg	5	12	11	13	3	1	1	1	1	1	0	6	2	4	1	4	3	1	1	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31696257C>A	ENST00000375792.3	-	4	1072	c.442G>T	c.(442-444)Gga>Tga	p.G148*	DDAH2_ENST00000480913.1_5'UTR|DDAH2_ENST00000375789.2_Nonsense_Mutation_p.G148*|DDAH2_ENST00000375787.2_Nonsense_Mutation_p.G148*			O95865	DDAH2_HUMAN	dimethylarginine dimethylaminohydrolase 2	148					anti-apoptosis|arginine catabolic process|citrulline metabolic process|nitric oxide biosynthetic process|nitric oxide mediated signal transduction	cytoplasm	dimethylargininase activity|protein binding			endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	11					L-Citrulline(DB00155)	ATCTCAGCTCCTCGGTGATTG	0.662													A	31696257	C	A	31696257	4	1	364	1	0	0	0	0	0	1	0	0	4356	690	24	4	431	4	DDAH2	6	31696257	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20559	31696257	139418810	5168	28670											
VARS	7407	broad.mit.edu	37	chr6	31750347	31750347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgtcctcaatgccacGgaacagtccccgctccttca	7	9	10	15	2	2	0	2	0	0	0	5	1	5	1	5	3	2	2	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750347G>A	ENST00000375663.3	-	16	2391	c.1951C>T	c.(1951-1953)Cgt>Tgt	p.R651C	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	651					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	TCAATGCCACGGAACAGTCCC	0.632													A	31750347	G	A	31750347	3	1	364	1	0	0	0	0	1	0	0	0	17225	1116	39	1	1903	1	VARS	6	31750347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54090	31750347	139364720	5169	28671											
VARS	7407	broad.mit.edu	37	chr6	31750377	31750377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgctccttcagcgccaccaGcaccgctttcctggcctcaa	6	8	7	20	3	2	0	2	0	0	0	4	0	4	0	7	1	2	3	7	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31750377G>T	ENST00000375663.3	-	16	2361	c.1921C>A	c.(1921-1923)Ctg>Atg	p.L641M	VARS_ENST00000444930.2_3'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	641					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	AGCGCCACCAGCACCGCTTTC	0.642													T	31750377	G	T	31750377	3	4	364	1	0	0	0	0	1	0	0	0	17225	962	34	4	1933	4	VARS	6	31750377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	31750377	139364690	5170	28672											
VARS	7407	broad.mit.edu	37	chr6	31752244	31752244	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtagccaggcacggaGagcagggtgcgacctgtcag	8	7	15	11	2	1	1	1	0	0	1	2	3	2	1	3	3	3	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31752244G>T	ENST00000375663.3	-	12	1943	c.1503C>A	c.(1501-1503)ctC>ctA	p.L501L	VARS_ENST00000444930.2_Silent_p.L206L	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	501					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	CAGGCACGGAGAGCAGGGTGC	0.592													T	31752244	G	T	31752244	2	4	364	1	0	0	0	0	0	0	0	1	17225	929	33	4		4	VARS	6	31752244	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1867	31752244	139362823	5171	28673											
VARS	7407	broad.mit.edu	37	chr6	31760029	31760029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggggttgggaggtcatagGtaatgaccccaggatcccgt	8	9	16	8	1	1	1	1	1	0	0	2	3	2	3	3	6	0	2	3	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31760029G>A	ENST00000375663.3	-	6	1276	c.836C>T	c.(835-837)aCc>aTc	p.T279I	VARS_ENST00000444930.2_5'UTR	NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	279					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GAGGTCATAGGTAATGACCCC	0.552													A	31760029	G	A	31760029	3	1	364	1	0	0	0	0	1	0	0	0	17225	1261	44	2	3058	2	VARS	6	31760029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7785	31760029	139355038	5172	28674											
HSPA1L	3305	broad.mit.edu	37	chr6	31778007	31778007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgattgacctccagccaCgaaaggagctcgttgcattt	10	11	10	10	2	0	2	0	2	0	0	2	4	1	3	3	1	3	4	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778007C>T	ENST00000375654.4	-	2	1932	c.1743G>A	c.(1741-1743)tcG>tcA	p.S581S	HSPA1L_ENST00000417199.3_Silent_p.S581S	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	581					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CCTCCAGCCACGAAAGGAGCT	0.388													T	31778007	C	T	31778007	2	4	364	1	0	0	0	0	0	0	0	1	7467	523	19	1		1	HSPA1L	6	31778007	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17978	31778007	139337060	5173	28675											
HSPA1L	3305	broad.mit.edu	37	chr6	31778626	31778626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggctgcttgtaccgcaGccccatatgctacggcctca	7	9	11	14	2	1	0	1	0	0	0	1	1	1	1	4	3	5	5	4	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31778626G>T	ENST00000375654.4	-	2	1313	c.1124C>A	c.(1123-1125)gCt>gAt	p.A375D	HSPA1L_ENST00000417199.3_Missense_Mutation_p.A375D	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	375					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTGTACCGCAGCCCCATATGC	0.597													T	31778626	G	T	31778626	3	4	364	1	0	0	0	0	1	0	0	0	7467	971	34	4	805	4	HSPA1L	6	31778626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	619	31778626	139336441	5174	28676											
HSPA1L	3305	broad.mit.edu	37	chr6	31779560	31779560	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacagtgttctggggatTcattgctacctggttcttgg	9	14	11	7	0	3	0	1	0	2	0	3	1	3	1	1	4	3	3	1	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31779560T>G	ENST00000375654.4	-	2	379	c.190A>C	c.(190-192)Aat>Cat	p.N64H	HSPA1L_ENST00000417199.3_Missense_Mutation_p.N64H	NM_005527.3	NP_005518.3	P34931	HS71L_HUMAN	heat shock 70kDa protein 1-like	64					response to unfolded protein		ATP binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|pleura(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						TTCTGGGGATTCATTGCTACC	0.507													G	31779560	T	G	31779560	3	3	364	1	0	0	0	0	1	0	0	0	7467	1783	62	5	1739	5	HSPA1L	6	31779560	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	934	31779560	139335507	5175	28677											
HSPA1B	3304	broad.mit.edu	37	chr6	31797648	31797648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccctaccattgaggaggtgGattaggggcctttgttcttt	6	14	13	8	0	1	1	0	1	1	0	1	3	1	3	3	5	1	1	3	5	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31797648G>T	ENST00000375650.3	+	1	2137	c.1921G>T	c.(1921-1923)Gat>Tat	p.D641Y	HSPA1B_ENST00000545241.1_Missense_Mutation_p.D550Y	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	641					anti-apoptosis|mRNA catabolic process|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of inclusion body assembly|protein refolding|response to unfolded protein	cytosol|endoplasmic reticulum|inclusion body|mitochondrion|nuclear speck|perinuclear region of cytoplasm|ribonucleoprotein complex	ATP binding|protein binding involved in protein folding|protein N-terminus binding|receptor activity|ubiquitin protein ligase binding|unfolded protein binding			breast(1)|large_intestine(1)|prostate(1)	3						TGAGGAGGTGGATTAGGGGCC	0.567													T	31797648	G	T	31797648	3	4	364	1	0	0	0	0	1	0	0	0	7466	1174	41	4	1923	4	HSPA1B	6	31797648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18088	31797648	139317419	5176	28678											
SLC44A4	80736	broad.mit.edu	37	chr6	31832637	31832637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtgggggctcttaaagtCtttacccagccccgggatgc	7	9	14	11	1	2	0	0	0	2	0	2	2	2	1	3	4	3	1	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31832637C>T	ENST00000544672.1	-	19	1950	c.1654G>A	c.(1654-1656)Gac>Aac	p.D552N	SLC44A4_ENST00000229729.6_Missense_Mutation_p.D628N|SLC44A4_ENST00000375562.4_Missense_Mutation_p.D586N	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	628						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	CTCTTAAAGTCTTTACCCAGC	0.552													T	31832637	C	T	31832637	3	4	364	1	0	0	0	0	1	0	0	0	14732	913	32	2	262	2	SLC44A4	6	31832637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34989	31832637	139282430	5177	28679											
EHMT2	10919	broad.mit.edu	37	chr6	31860293	31860293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccggggtcccctttcGtcagggtcacttctcctgaa	5	10	12	14	2	3	1	2	1	1	0	6	2	4	2	4	4	0	0	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31860293G>A	ENST00000395728.3	-	6	925	c.926C>T	c.(925-927)aCg>aTg	p.T309M	EHMT2_ENST00000375537.4_Missense_Mutation_p.T252M|EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375530.4_Missense_Mutation_p.T252M|EHMT2_ENST00000375528.4_Missense_Mutation_p.T309M			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	252	Poly-Glu.				DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GTCCCCTTTCGTCAGGGTCAC	0.542													A	31860293	G	A	31860293	3	1	364	1	0	0	0	0	1	0	0	0	5023	1145	40	1	2965	1	EHMT2	6	31860293	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27656	31860293	139254774	5178	28680											
CFB	629	broad.mit.edu	37	chr6	31912542	31912542	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtctcccaagaaaaaacCatgttccccaacttgacaga	14	9	6	12	0	1	3	0	1	1	2	3	3	2	3	4	0	2	2	4	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31912542C>A	ENST00000556679.1	+	13	1537	c.1482C>A	c.(1480-1482)acC>acA	p.T494T	C2_ENST00000442278.2_Silent_p.T515T|CFB_ENST00000477310.1_Silent_p.T418T|C2_ENST00000299367.5_Silent_p.T647T|C2_ENST00000452323.2_Silent_p.T433T|C2_ENST00000469372.1_Silent_p.T401T|C2_ENST00000468407.1_3'UTR|CFB_ENST00000456570.1_Silent_p.T494T			P00751	CFAB_HUMAN	complement factor B	664	Peptidase S1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						AAGAAAAAACCATGTTCCCCA	0.567													A	31912542	C	A	31912542	2	1	364	1	0	0	0	0	0	0	0	1	3308	581	21	4		4	CFB	6	31912542	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52249	31912542	139202525	5179	28681											
CFB	629	broad.mit.edu	37	chr6	31918103	31918103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtatgggggctgtggTgtctgagtactttgtgctga	5	14	17	5	0	1	2	0	2	1	0	1	3	1	2	0	3	3	5	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31918103T>C	ENST00000556679.1	+	24	3108	c.3053T>C	c.(3052-3054)gTg>gCg	p.V1018A	CFB_ENST00000477310.1_Missense_Mutation_p.V867A|CFB_ENST00000425368.2_Missense_Mutation_p.V516A|CFB_ENST00000456570.1_Missense_Mutation_p.V1018A			P00751	CFAB_HUMAN	complement factor B	516					complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGGGCTGTGGTGTCTGAGTAC	0.502													C	31918103	T	C	31918103	3	2	364	1	0	0	0	0	1	0	0	0	3308	1696	59	3	1593	3	CFB	6	31918103	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5561	31918103	139196964	5180	28682											
SKIV2L	6499	broad.mit.edu	37	chr6	31937356	31937356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtccgctgcattcagcGcctggctgagatgtgtcgct	4	11	15	11	3	1	1	1	1	0	1	3	2	2	1	2	3	2	4	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31937356G>A	ENST00000375394.2	+	28	3718	c.3605G>A	c.(3604-3606)cGc>cAc	p.R1202H	SKIV2L_ENST00000544581.1_Missense_Mutation_p.R1009H	NM_006929.4	NP_008860.4	Q15477	SKIV2_HUMAN	superkiller viralicidic activity 2-like (S. cerevisiae)	1202						nucleus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(1)|ovary(1)	4						TGCATTCAGCGCCTGGCTGAG	0.652													A	31937356	G	A	31937356	3	1	364	1	0	0	0	0	1	0	0	0	14453	1087	38	1	3715	1	SKIV2L	6	31937356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19253	31937356	139177711	5181	28683											
STK19	8859	broad.mit.edu	37	chr6	31940211	31940211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaagaggcatcaccTgatcccggagacctttggag	10	7	14	10	1	1	3	1	1	0	2	2	7	2	5	3	4	1	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940211T>C	ENST00000375331.2	+	2	519	c.353T>C	c.(352-354)cTg>cCg	p.L118P	STK19_ENST00000463823.1_3'UTR|STK19_ENST00000375333.2_Missense_Mutation_p.L118P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	118						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						AGGCATCACCTGATCCCGGAG	0.587													C	31940211	T	C	31940211	3	2	364	1	0	0	0	0	1	0	0	0	15388	1580	55	3	359	3	STK19	6	31940211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2855	31940211	139174856	5182	28684											
STK19	8859	broad.mit.edu	37	chr6	31940512	31940512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacagccttgtgcctgacaGgaccgtggccgaccggcagc	7	6	14	14	3	0	1	0	1	0	0	0	3	0	2	5	3	4	2	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31940512G>T	ENST00000375331.2	+	3	711	c.545G>T	c.(544-546)aGg>aTg	p.R182M	STK19_ENST00000463823.1_Intron|STK19_ENST00000375333.2_Missense_Mutation_p.R182M	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	182						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						GTGCCTGACAGGACCGTGGCC	0.647													T	31940512	G	T	31940512	3	4	364	1	0	0	0	0	1	0	0	0	15388	1000	35	4	555	4	STK19	6	31940512	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301	31940512	139174555	5183	28685											
C4A	720	broad.mit.edu	37	chr6	31964364	31964364	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaacctcatggcaatggcCcaggagactggaggtgaggg	12	5	15	9	0	1	2	1	1	0	1	1	4	1	3	2	6	2	1	2	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31964364C>T	ENST00000428956.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4A_ENST00000498271.1_Silent_p.A1221A	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		TGGCAATGGCCCAGGAGACTG	0.642													T	31964364	C	T	31964364	2	4	364	1	0	0	0	0	0	0	0	1	2269	610	22	2		2	C4A	6	31964364	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23852	31964364	139150703	5184	28686											
C4B	721	broad.mit.edu	37	chr6	31996282	31996282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatggttcctatgcggCttggttgtcacggggcagca	5	10	17	9	3	1	0	1	0	0	0	2	1	2	1	1	7	2	5	1	7	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31996282C>T	ENST00000435363.2	+	25	3287	c.3203C>T	c.(3202-3204)gCt>gTt	p.A1068V	C4B_ENST00000425700.2_Missense_Mutation_p.A1068V	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1068					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TCCTATGCGGCTTGGTTGTCA	0.612													T	31996282	C	T	31996282	3	4	364	1	0	0	0	0	1	0	0	0	2270	797	28	2	8363	2	C4B	6	31996282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31918	31996282	139118785	5185	28687											
C4B	721	broad.mit.edu	37	chr6	31997102	31997102	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaacctcatggcaatggcCcaggagactggaggtgaggg	12	5	15	9	0	1	2	1	1	0	1	1	4	1	3	2	6	2	1	2	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:31997102C>T	ENST00000435363.2	+	28	3747	c.3663C>T	c.(3661-3663)gcC>gcT	p.A1221A	C4B_ENST00000425700.2_Silent_p.A1221A	NM_001002029.3	NP_001002029.3	P0C0L5	CO4B_HUMAN	complement component 4B (Chido blood group)	1221					complement activation, classical pathway|inflammatory response|innate immune response	extracellular space	endopeptidase inhibitor activity										TGGCAATGGCCCAGGAGACTG	0.647													T	31997102	C	T	31997102	2	4	364	1	0	0	0	0	0	0	0	1	2270	610	22	2		2	C4B	6	31997102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820	31997102	139117965	5186	28688											
TNXB	7148	broad.mit.edu	37	chr6	32016145	32016145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccctcactcaccggtcCtggcctccacagggactggg	6	6	11	18	1	2	0	2	0	0	0	4	1	4	1	6	4	1	0	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32016145C>A	ENST00000375244.3	-	29	10241	c.10040G>T	c.(10039-10041)aGg>aTg	p.R3347M	TNXB_ENST00000375247.2_Missense_Mutation_p.R3345M			P22105	TENX_HUMAN	tenascin XB	3392	Fibronectin type-III 25.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CTCACCGGTCCTGGCCTCCAC	0.657													A	32016145	C	A	32016145	3	1	364	1	0	0	0	0	1	0	0	0	16446	681	24	4	4743	4	TNXB	6	32016145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19043	32016145	139098922	5187	28689											
TNXB	7148	broad.mit.edu	37	chr6	32035474	32035474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacactgggcccacgcgccGcccctcgtggaggccgtaca	7	4	13	17	5	0	1	0	0	0	1	1	2	0	2	5	3	1	1	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32035474G>A	ENST00000375244.3	-	18	6709	c.6508C>T	c.(6508-6510)Cgg>Tgg	p.R2170W	TNXB_ENST00000375247.2_Missense_Mutation_p.R2170W			P22105	TENX_HUMAN	tenascin XB	2242	Fibronectin type-III 14.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding	p.R2170R(1)|p.R2257R(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						CCCACGCGCCGCCCCTCGTGG	0.652													A	32035474	G	A	32035474	3	1	364	1	0	0	0	0	1	0	0	0	16446	1086	38	1	8313	1	TNXB	6	32035474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19329	32035474	139079593	5188	28690											
TNXB	7148	broad.mit.edu	37	chr6	32040067	32040067	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctgtggctggggctggtgGgaggggagctgggatttggg	3	10	23	5	0	1	0	0	0	1	0	1	3	1	3	0	9	1	3	0	9	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32040067G>T	ENST00000375244.3	-	13	4891	c.4690C>A	c.(4690-4692)Cca>Aca	p.P1564T	TNXB_ENST00000375247.2_Missense_Mutation_p.P1564T			P22105	TENX_HUMAN	tenascin XB	1649	Fibronectin type-III 8.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGGCTGGTGGGAGGGGAGCT	0.607													T	32040067	G	T	32040067	3	4	364	1	0	0	0	0	1	0	0	0	16446	1232	43	4	10151	4	TNXB	6	32040067	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4593	32040067	139075000	5189	28691											
TNXB	7148	broad.mit.edu	37	chr6	32063391	32063391	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctgcctgctcaccttCtccgcagtcttcgccagcat	6	10	9	16	2	3	0	1	0	2	0	5	1	3	0	4	1	3	4	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32063391C>A	ENST00000375244.3	-	3	2440	c.2239G>T	c.(2239-2241)Gaa>Taa	p.E747*	TNXB_ENST00000479795.1_Nonsense_Mutation_p.E747*|TNXB_ENST00000375247.2_Nonsense_Mutation_p.E747*			P22105	TENX_HUMAN	tenascin XB	747					actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						TGCTCACCTTCTCCGCAGTCT	0.597													A	32063391	C	A	32063391	4	1	364	1	0	0	0	0	0	1	0	0	16446	922	32	4	12642	4	TNXB	6	32063391	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23324	32063391	139051676	5190	28692											
FKBPL	63943	broad.mit.edu	37	chr6	32097545	32097545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttctccaattgtattgactgGtggcgtctccatatggatgc	7	15	10	9	1	2	1	0	1	2	0	4	2	2	2	2	3	1	1	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32097545G>A	ENST00000375156.3	-	2	283	c.13C>T	c.(13-15)Cca>Tca	p.P5S		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	5					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										GTATTGACTGGTGGCGTCTCC	0.473													A	32097545	G	A	32097545	3	1	364	1	0	0	0	0	1	0	0	0	5965	1261	44	2	1040	2	FKBPL	6	32097545	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34154	32097545	139017522	5191	28693											
PPT2	9374	broad.mit.edu	37	chr6	32130594	32130594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccttgaaggtttatctgcGggattcttttgggttgaaga	8	15	12	6	1	2	3	0	2	2	1	2	4	2	4	1	3	1	2	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32130594G>A	ENST00000324816.6	+	9	1344	c.776G>A	c.(775-777)cGg>cAg	p.R259Q	PPT2-EGFL8_ENST00000453656.2_Intron|PPT2_ENST00000375143.2_Missense_Mutation_p.R259Q|PPT2_ENST00000395523.1_Missense_Mutation_p.R259Q|PPT2_ENST00000445576.2_Intron|PPT2_ENST00000437001.2_Intron|PPT2_ENST00000361568.2_Missense_Mutation_p.R265Q|PPT2_ENST00000375137.2_Missense_Mutation_p.R259Q|PPT2-EGFL8_ENST00000422437.1_Intron			Q9UMR5	PPT2_HUMAN	palmitoyl-protein thioesterase 2	259					protein modification process	lysosome	palmitoyl-(protein) hydrolase activity	p.R265L(2)		NS(1)|endometrium(2)|large_intestine(2)|lung(10)|prostate(1)|urinary_tract(1)	17						GTTTATCTGCGGGATTCTTTT	0.557													A	32130594	G	A	32130594	3	1	364	1	0	0	0	0	1	0	0	0	12494	1116	39	1	828	1	PPT2	6	32130594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33049	32130594	138984473	5192	28694											
NOTCH4	4855	broad.mit.edu	37	chr6	32163319	32163319	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacggagtaaggcaaggAggcgggatcggaatgttgga	11	5	21	4	3	0	0	0	0	0	0	1	6	0	6	0	9	0	3	0	9	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32163319A>T	ENST00000375023.3	-	30	6045	c.5907T>A	c.(5905-5907)ccT>ccA	p.P1969P		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1969					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TAAGGCAAGGAGGCGGGATCG	0.617													T	32163319	A	T	32163319	2	4	364	1	0	0	0	0	0	0	0	1	10627	291	11	5		5	NOTCH4	6	32163319	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32725	32163319	138951748	5193	28695											
NOTCH4	4855	broad.mit.edu	37	chr6	32169988	32169988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccttccaggggtctgggActcccagagagcagtcccct	7	7	12	15	0	1	1	0	0	1	1	4	3	4	2	5	3	2	1	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32169988A>G	ENST00000375023.3	-	21	3758	c.3620T>C	c.(3619-3621)gTc>gCc	p.V1207A		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1207					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GGGGTCTGGGACTCCCAGAGA	0.642													G	32169988	A	G	32169988	3	3	364	1	0	0	0	0	1	0	0	0	10627	275	10	3	2431	3	NOTCH4	6	32169988	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6669	32169988	138945079	5194	28696											
NOTCH4	4855	broad.mit.edu	37	chr6	32170036	32170036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttcctcccgggccactgCagccagcatcgcaggcccca	7	6	10	18	2	0	0	0	0	0	0	3	0	2	0	6	2	3	4	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32170036C>T	ENST00000375023.3	-	21	3710	c.3572G>A	c.(3571-3573)tGc>tAc	p.C1191Y		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1191					cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CGGGCCACTGCAGCCAGCATC	0.662													T	32170036	C	T	32170036	3	4	364	1	0	0	0	0	1	0	0	0	10627	710	25	2	2479	2	NOTCH4	6	32170036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48	32170036	138945031	5195	28697											
NOTCH4	4855	broad.mit.edu	37	chr6	32180367	32180367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggaggcagtgggaattgCgtgggcagggcttctgggca	6	9	19	7	1	2	0	0	0	2	0	2	2	2	2	0	6	1	4	0	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32180367C>T	ENST00000375023.3	-	17	2702	c.2564G>A	c.(2563-2565)cGc>cAc	p.R855H	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	855	EGF-like 22.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGAATTGCGTGGGCAGGG	0.607													T	32180367	C	T	32180367	3	4	364	1	0	0	0	0	1	0	0	0	10627	768	27	1	3503	1	NOTCH4	6	32180367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10331	32180367	138934700	5196	28698											
C6orf10	10665	broad.mit.edu	37	chr6	32261804	32261804	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcatccatgtaacctgTtaatataactgagcatacaa	14	14	4	9	0	2	1	1	1	1	0	3	1	3	1	2	0	4	3	2	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32261804T>C	ENST00000375015.4	-	26	843	c.643A>G	c.(643-645)Aca>Gca	p.T215A	C6orf10_ENST00000533191.1_Missense_Mutation_p.T214A|C6orf10_ENST00000375007.4_Missense_Mutation_p.T214A|C6orf10_ENST00000442822.2_Missense_Mutation_p.T207A|C6orf10_ENST00000527965.1_Missense_Mutation_p.T200A|C6orf10_ENST00000447241.2_Missense_Mutation_p.T216A			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	216						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ATGTAACCTGTTAATATAACT	0.343													C	32261804	T	C	32261804	3	2	364	1	0	0	0	0	1	0	0	0	2339	1725	60	3	1049	3	C6orf10	6	32261804	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	81437	32261804	138853263	5197	28699											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410377	32410377	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttggacgatttgccagcTttgaggctcaaggtgcattg	9	13	12	7	1	1	1	1	1	0	0	1	3	1	2	1	3	3	3	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32410377T>A	ENST00000395388.2	+	2	344	c.235T>A	c.(235-237)Ttt>Att	p.F79I	HLA-DRA_ENST00000374982.5_Missense_Mutation_p.F79I	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	79	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						ATTTGCCAGCTTTGAGGCTCA	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				A	32410377	T	A	32410377	3	1	364	1	0	0	0	0	1	0	0	0	7262	1609	56	5	241	5	HLA-DRA	6	32410377	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	148573	32410377	138704690	5198	28700											
HLA-DRB1	3123	broad.mit.edu	37	chr6	32557480	32557480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagtgtcactgtcagcgCtgtcatgcaggagcctccag	8	9	11	13	1	4	0	4	0	0	0	5	1	5	1	2	1	3	2	2	1	0	0	rs17878475		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32557480C>T	ENST00000360004.5	-	1	145	c.40G>A	c.(40-42)Gcg>Acg	p.A14T		NM_002124.3	NP_002115.2			major histocompatibility complex, class II, DR beta 1											large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	10						ACTGTCAGCGCTGTCATGCAG	0.592										Multiple Myeloma(14;0.17)			T	32557480	C	T	32557480	3	4	364	1	0	0	0	0	1	0	0	0	7263	797	28	2	784	2	HLA-DRB1	6	32557480	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147103	32557480	138557587	5199	28701											
TAP2	6891	broad.mit.edu	37	chr6	32805576	32805576	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggcaggtccggcctGgagagcttcagcagcctcca	9	5	15	12	1	1	2	1	0	0	2	3	4	3	2	4	5	3	3	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32805576G>T	ENST00000374897.2	-	2	566	c.435C>A	c.(433-435)tcC>tcA	p.S145S	TAP2_ENST00000374899.4_Silent_p.S145S|TAP2_ENST00000452392.2_Silent_p.S145S	NM_000544.3	NP_000535.3	Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	145					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										GGTCCGGCCTGGAGAGCTTCA	0.572													T	32805576	G	T	32805576	2	4	364	1	0	0	0	0	0	0	0	1	15648	1335	47	4		4	TAP2	6	32805576	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248096	32805576	138309491	5200	28702											
PSMB8	5696	broad.mit.edu	37	chr6	32810845	32810845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttctccgtccccacccaGggactggaagaattctgtgg	7	10	10	14	1	2	1	0	0	2	1	4	3	3	3	5	3	0	0	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32810845G>T	ENST00000374881.2	-	2	446	c.157C>A	c.(157-159)Ctg>Atg	p.L53M	PSMB8_ENST00000374882.3_Missense_Mutation_p.L57M|PSMB8_ENST00000395339.3_Missense_Mutation_p.L57M	NM_004159.4	NP_004150.1	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|type I interferon-mediated signaling pathway|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11						TCCCCACCCAGGGACTGGAAG	0.488													T	32810845	G	T	32810845	3	4	364	1	0	0	0	0	1	0	0	0	12768	991	35	4	681	4	PSMB8	6	32810845	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5269	32810845	138304222	5201	28703											
HLA-DMB	3109	broad.mit.edu	37	chr6	32903412	32903412	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccttcagggtctgcaTgggggacagcccaggtgctg	9	7	15	10	0	2	1	1	0	1	1	2	2	2	2	2	4	4	2	2	4	1	1	rs35339338		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32903412T>C	ENST00000418107.2	-	4	902	c.640A>G	c.(640-642)Atg>Gtg	p.M214V		NM_002118.4	NP_002109.2	P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	214	Connecting peptide (Potential).				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						AGGGTCTGCATGGGGGACAGC	0.537													C	32903412	T	C	32903412	3	2	364	1	0	0	0	0	1	0	0	0	7254	1464	51	3	163	3	HLA-DMB	6	32903412	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	92567	32903412	138211655	5202	28704											
HLA-DMB	3109	broad.mit.edu	37	chr6	32906533	32906533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaagcccattgcgcaagcGctgcatcagggtgtcttttt	7	12	11	11	2	2	1	1	1	1	0	2	1	2	1	1	1	4	3	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32906533G>A	ENST00000416244.2	-	2	459	c.265C>T	c.(265-267)Cgc>Tgc	p.R89C	XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.R121C|HLA-DMB_ENST00000418107.2_Missense_Mutation_p.R89C			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	89	Beta-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						TTGCGCAAGCGCTGCATCAGG	0.552													A	32906533	G	A	32906533	3	1	364	1	0	0	0	0	1	0	0	0	7254	1087	38	1	546	1	HLA-DMB	6	32906533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3121	32906533	138208534	5203	28705											
HLA-DMA	3108	broad.mit.edu	37	chr6	32917135	32917135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaaaggccacgccacacaGcacattctccagcagatctg	12	5	8	16	1	2	1	0	0	2	1	3	1	2	1	4	1	2	2	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32917135G>T	ENST00000374843.4	-	4	779	c.694C>A	c.(694-696)Ctg>Atg	p.L232M	XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395303.3_Missense_Mutation_p.L198M|HLA-DMA_ENST00000464392.1_5'UTR|HLA-DMA_ENST00000395305.3_Missense_Mutation_p.L137M	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	232						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						ACGCCACACAGCACATTCTCC	0.582													T	32917135	G	T	32917135	3	4	364	1	0	0	0	0	1	0	0	0	7253	962	34	4	99	4	HLA-DMA	6	32917135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10602	32917135	138197932	5204	28706											
BRD2	6046	broad.mit.edu	37	chr6	32945321	32945321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaatcccccagatcacgatGttgtggcaatggcacgaaag	13	7	10	11	2	1	1	1	0	0	1	2	3	2	1	2	2	0	3	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32945321G>A	ENST00000395289.2	+	8	2904	c.1303G>A	c.(1303-1305)Gtt>Att	p.V435I	BRD2_ENST00000374825.4_Missense_Mutation_p.V435I|BRD2_ENST00000374831.4_Missense_Mutation_p.V435I|BRD2_ENST00000443797.2_Missense_Mutation_p.V315I|BRD2_ENST00000395287.1_Missense_Mutation_p.V435I|BRD2_ENST00000449085.2_Missense_Mutation_p.V388I			P25440	BRD2_HUMAN	bromodomain containing 2	435	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGATCACGATGTTGTGGCAAT	0.458													A	32945321	G	A	32945321	3	1	364	1	0	0	0	0	1	0	0	0	1511	1377	48	2	1329	2	BRD2	6	32945321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28186	32945321	138169746	5205	28707											
BRD2	6046	broad.mit.edu	37	chr6	32947864	32947864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacacttagagagcttgagCgctatgtcctttcctgccta	8	12	8	13	1	0	2	0	1	0	1	2	3	2	2	4	0	3	2	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:32947864C>T	ENST00000395289.2	+	12	3807	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	BRD2_ENST00000374825.4_Missense_Mutation_p.R701C|BRD2_ENST00000374831.4_Missense_Mutation_p.R701C|BRD2_ENST00000443797.2_Missense_Mutation_p.R581C|BRD2_ENST00000395287.1_Missense_Mutation_p.R736C|BRD2_ENST00000449085.2_Missense_Mutation_p.R654C			P25440	BRD2_HUMAN	bromodomain containing 2	701	ET.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGAGCTTGAGCGCTATGTCCT	0.458													T	32947864	C	T	32947864	3	4	364	1	0	0	0	0	1	0	0	0	1511	768	27	1	2139	1	BRD2	6	32947864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2543	32947864	138167203	5206	28708											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33054010	33054010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcagttcaacgaggatctGcataaacaggtaatattcct	13	13	7	8	1	3	0	2	0	1	0	4	2	4	1	1	2	3	3	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33054010G>A	ENST00000418931.2	+	5	888	c.772G>A	c.(772-774)Gca>Aca	p.A258T		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	258					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						ACGAGGATCTGCATAAACAGG	0.418													A	33054010	G	A	33054010	3	1	364	1	0	0	0	0	1	0	0	0	7258	1319	46	2	790	2	HLA-DPB1	6	33054010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106146	33054010	138061057	5207	28709											
COL11A2	1302	broad.mit.edu	37	chr6	33146457	33146457	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccactaatgtactcaccCtatggcccttctctccaggg	8	10	6	17	0	2	0	1	0	1	0	4	0	3	0	4	2	1	1	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33146457C>A	ENST00000341947.2	-	18	1945	c.1718G>T	c.(1717-1719)aGg>aTg	p.R573M	COL11A2_ENST00000374712.1_Splice_Site_p.R492M|COL11A2_ENST00000357486.1_Splice_Site_p.R552M|COL11A2_ENST00000374713.1_Splice_Site_p.R526M|COL11A2_ENST00000395197.1_Splice_Site_p.R513M|COL11A2_ENST00000374714.1_Splice_Site_p.R547M|COL11A2_ENST00000361917.1_Splice_Site_p.R466M|COL11A2_ENST00000374708.4_Splice_Site_p.R487M	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	573	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						TGTACTCACCCTATGGCCCTT	0.557													A	33146457	C	A	33146457	5	1	364	1	0	0	0	0	0	0	1	0	3699	695	24	4	3688	4	COL11A2	6	33146457	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92447	33146457	137968610	5208	28710											
COL11A2	1302	broad.mit.edu	37	chr6	33153518	33153518	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtagtcatcacatcataaTaggggggctcgtagtcatag	11	10	11	9	2	4	0	4	0	0	0	5	0	4	0	1	3	0	3	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33153518T>C	ENST00000341947.2	-	6	1063	c.836A>G	c.(835-837)tAt>tGt	p.Y279C	COL11A2_ENST00000374712.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000357486.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374713.1_Intron|COL11A2_ENST00000395197.1_Missense_Mutation_p.Y279C|COL11A2_ENST00000374714.1_Intron|COL11A2_ENST00000361917.1_Intron|COL11A2_ENST00000374708.4_Intron	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	279	Nonhelical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CACATCATAATAGGGGGGCTC	0.532													C	33153518	T	C	33153518	3	2	364	1	0	0	0	0	1	0	0	0	3699	1406	49	3	4618	3	COL11A2	6	33153518	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7061	33153518	137961549	5209	28711											
COL11A2	1302	broad.mit.edu	37	chr6	33157138	33157138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgcactgagctgggcaggtCgtgccactcggtaggccaca	7	7	15	12	2	0	1	0	1	0	0	2	1	0	1	2	4	3	4	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33157138C>T	ENST00000341947.2	-	2	418	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	COL11A2_ENST00000374712.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000357486.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374713.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395194.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000395197.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374714.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000361917.1_Missense_Mutation_p.R64Q|COL11A2_ENST00000374708.4_Missense_Mutation_p.R64Q	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	64	TSP N-terminal.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						CTGGGCAGGTCGTGCCACTCG	0.632													T	33157138	C	T	33157138	3	4	364	1	0	0	0	0	1	0	0	0	3699	884	31	1	5354	1	COL11A2	6	33157138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3620	33157138	137957929	5210	28712											
RXRB	6257	broad.mit.edu	37	chr6	33164153	33164153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggatgtagaacagacCtagactgcctcccccaaccc	11	5	11	14	0	0	3	0	0	0	3	1	5	1	5	5	3	3	1	5	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33164153C>A	ENST00000413614.2	-	4	982	c.763G>T	c.(763-765)Ggt>Tgt	p.G255C	RXRB_ENST00000544186.1_Intron|RXRB_ENST00000374685.4_Intron|RXRB_ENST00000374680.3_Intron			P28702	RXRB_HUMAN	retinoid X receptor, beta	141					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Etretinate(DB00926)|Tazarotene(DB00799)|Tretinoin(DB00755)	TAGAACAGACCTAGACTGCCT	0.582													A	33164153	C	A	33164153	3	1	364	1	0	0	0	0	1	0	0	0	13855	696	24	4		4	RXRB	6	33164153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7015	33164153	137950914	5211	28713											
SLC39A7	7922	broad.mit.edu	37	chr6	33169641	33169641	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgctcagttttgcttcCggtgggctcctgggagatgc	4	14	13	10	1	2	1	1	0	1	1	4	2	4	1	2	3	3	4	2	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33169641C>A	ENST00000374677.3	+	2	904	c.531C>A	c.(529-531)tcC>tcA	p.S177S	SLC39A7_ENST00000374675.3_Silent_p.S177S	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	177						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						GTTTTGCTTCCGGTGGGCTCC	0.488													A	33169641	C	A	33169641	2	1	364	1	0	0	0	0	0	0	0	1	14717	639	23	4		4	SLC39A7	6	33169641	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5488	33169641	137945426	5212	28714											
SLC39A7	7922	broad.mit.edu	37	chr6	33170830	33170831	+	Frame_Shift_Ins	INS	-	-	A																															cctgctacatgaagtgccccINSacgaggtcggagactttgcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33170830_33170831insA	ENST00000374677.3	+	6	1457_1458	c.1084_1085insA	c.(1084-1086)cacfs	p.H362fs	SLC39A7_ENST00000374675.3_Frame_Shift_Ins_p.H362fs|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	362						endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TGAAGTGCCCCACGAGGTCGGA	0.55													A	33170831	-	A	33170830	7	5	364	1	0	1	1	0	0	0	0	0	14717	594	21	0	1106	0	SLC39A7	6	33170830	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1189	33170830	137944237	5213	28715											
SLC39A7	7922	broad.mit.edu	37	chr6	33171570	33171570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggagttatcatgatggtgCtgattgcccaccttgagtga	8	12	14	7	0	1	4	1	4	0	0	1	5	1	5	2	3	2	2	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33171570C>A	ENST00000374677.3	+	7	1763	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	SLC39A7_ENST00000374675.3_Missense_Mutation_p.L464M|SLC39A7_ENST00000463972.1_3'UTR	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	464				CALLTEGGAVGSEIAGGAGPGWVLPFTAGGFIYVATVSVLP ELLREASPLQSLLEVLGLLGGVIMMVLIAHLE -> VPFSL KEEQWTVKLQVVQVLAGSCHLLQVALST (in Ref. 1; BAA11528 and 2; AAD12305).		endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						CATGATGGTGCTGATTGCCCA	0.592													A	33171570	C	A	33171570	3	1	364	1	0	0	0	0	1	0	0	0	14717	796	28	4	1416	4	SLC39A7	6	33171570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	740	33171570	137943497	5214	28716											
VPS52	6293	broad.mit.edu	37	chr6	33219411	33219411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggatcagctgagttacccGggctaatagcaggaggaaac	13	6	13	9	2	1	1	1	1	0	0	1	4	1	4	1	4	4	4	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33219411G>A	ENST00000445902.2	-	19	2127	c.1909C>T	c.(1909-1911)Cgg>Tgg	p.R637W	VPS52_ENST00000436044.2_Missense_Mutation_p.R512W|HCG25_ENST00000442228.1_RNA|HCG25_ENST00000450514.1_RNA|HCG25_ENST00000422366.1_RNA|HCG25_ENST00000427196.1_RNA|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	637					protein transport	endosome membrane|Golgi apparatus		p.R637W(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						TGAGTTACCCGGGCTAATAGC	0.478													A	33219411	G	A	33219411	3	1	364	1	0	0	0	0	1	0	0	0	17316	1115	39	1	270	1	VPS52	6	33219411	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47841	33219411	137895656	5215	28717											
VPS52	6293	broad.mit.edu	37	chr6	33236905	33236905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactgttcctgcagtgtcCggatctcagagctgatggag	7	11	13	10	1	1	3	1	2	1	1	4	5	3	5	2	2	2	3	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33236905C>T	ENST00000445902.2	-	6	652	c.434G>A	c.(433-435)cGg>cAg	p.R145Q	VPS52_ENST00000436044.2_Missense_Mutation_p.R20Q|VPS52_ENST00000478934.1_5'UTR|VPS52_ENST00000482399.1_3'UTR	NM_022553.4	NP_072047.4	Q8N1B4	VPS52_HUMAN	vacuolar protein sorting 52 homolog (S. cerevisiae)	145					protein transport	endosome membrane|Golgi apparatus				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(8)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28						CTGCAGTGTCCGGATCTCAGA	0.542													T	33236905	C	T	33236905	3	4	364	1	0	0	0	0	1	0	0	0	17316	652	23	1	1797	1	VPS52	6	33236905	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17494	33236905	137878162	5216	28718											
RPS18	6222	broad.mit.edu	37	chr6	33244215	33244215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccactggccgccgtggccGcaccgtgggtgtgtccaaga	6	6	15	14	4	0	1	0	0	0	1	1	2	1	1	6	3	0	1	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33244215G>A	ENST00000439602.2	+	6	541	c.431G>A	c.(430-432)cGc>cAc	p.R144H	RPS18_ENST00000474973.1_Missense_Mutation_p.R74H|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	144					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						CGCCGTGGCCGCACCGTGGGT	0.478													A	33244215	G	A	33244215	3	1	364	1	0	0	0	0	1	0	0	0	13719	1087	38	1	453	1	RPS18	6	33244215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7310	33244215	137870852	5217	28719											
PFDN6	10471	broad.mit.edu	37	chr6	33257675	33257675	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctacagggagaagtggaGaaatatcaacagctacagaa	19	5	11	6	0	1	3	1	0	0	3	1	5	1	3	0	2	5	2	0	2	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33257675G>T	ENST00000463584.1	+	1	124	c.42G>T	c.(40-42)gaG>gaT	p.E14D	PFDN6_ENST00000395131.1_Missense_Mutation_p.E14D|PFDN6_ENST00000374606.5_Missense_Mutation_p.E14D|PFDN6_ENST00000374607.1_Missense_Mutation_p.E14D|PFDN6_ENST00000374610.2_Missense_Mutation_p.E14D			O15212	PFD6_HUMAN	prefoldin subunit 6	14					'de novo' posttranslational protein folding|chaperone-mediated protein complex assembly	prefoldin complex	chaperone binding|unfolded protein binding			kidney(1)|large_intestine(1)	2						GAGAAGTGGAGAAATATCAAC	0.537													T	33257675	G	T	33257675	3	4	364	1	0	0	0	0	1	0	0	0	11836	933	33	4	44	4	PFDN6	6	33257675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13460	33257675	137857392	5218	28720											
RGL2	5863	broad.mit.edu	37	chr6	33259951	33259951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagccccctcctccctcactCggaggagttcctgaggcaga	7	7	11	16	1	1	2	1	1	0	1	5	5	4	4	5	3	1	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33259951C>T	ENST00000497454.1	-	18	2757	c.2262G>A	c.(2260-2262)ccG>ccA	p.P754P	PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000437840.2_5'UTR	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	754					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTCCCTCACTCGGAGGAGTTC	0.607													T	33259951	C	T	33259951	2	4	364	1	0	0	0	0	0	0	0	1	13365	871	31	1		1	RGL2	6	33259951	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2276	33259951	137855116	5219	28721											
RGL2	5863	broad.mit.edu	37	chr6	33261844	33261844	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaattgatgtatccattCtgcgaggaaaatggggatgg	13	11	12	5	1	2	1	1	1	1	0	3	4	3	3	1	4	1	1	1	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33261844C>A	ENST00000497454.1	-	12	1849		c.e12-1		PFDN6_ENST00000463584.1_Intron|RGL2_ENST00000444031.2_Splice_Site|RGL2_ENST00000437840.2_Splice_Site	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2						Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						TGTATCCATTCTGCGAGGAAA	0.517													A	33261844	C	A	33261844	5	1	364	1	0	0	0	0	0	0	1	0	13365	927	32	4	1008	4	RGL2	6	33261844	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1893	33261844	137853223	5220	28722											
DAXX	1616	broad.mit.edu	37	chr6	33286883	33286883	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctgggagagtccaccCtcgtggaggaatcagcaact	10	7	13	11	1	1	1	1	0	0	1	3	4	2	3	2	4	2	2	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33286883C>A	ENST00000374542.5	-	7	2258	c.2054G>T	c.(2053-2055)aGg>aTg	p.R685M	DAXX_ENST00000266000.6_Missense_Mutation_p.R685M|DAXX_ENST00000414083.2_Missense_Mutation_p.R610M	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	685	Interaction with SPOP.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						AGAGTCCACCCTCGTGGAGGA	0.602			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								A	33286883	C	A	33286883	3	1	364	1	0	0	0	0	1	0	0	0	4277	681	24	4	176	4	DAXX	6	33286883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25039	33286883	137828184	5221	28723											
DAXX	1616	broad.mit.edu	37	chr6	33288606	33288606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcccacatctcggaaggCatcctgagccatgagctgga	10	7	12	12	1	1	2	0	2	1	0	3	5	2	4	3	3	3	2	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33288606C>T	ENST00000374542.5	-	3	1150	c.946G>A	c.(946-948)Gcc>Acc	p.A316T	DAXX_ENST00000266000.6_Missense_Mutation_p.A316T|DAXX_ENST00000414083.2_Missense_Mutation_p.A241T|DAXX_ENST00000477162.1_Intron	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	316					activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						TCTCGGAAGGCATCCTGAGCC	0.587			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								T	33288606	C	T	33288606	3	4	364	1	0	0	0	0	1	0	0	0	4277	710	25	2	1300	2	DAXX	6	33288606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1723	33288606	137826461	5222	28724											
KIFC1	3833	broad.mit.edu	37	chr6	33371558	33371558	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccagcaaacgtccagcCtgggacttaaagggtcagtt	13	7	10	11	1	1	0	1	0	0	0	2	1	2	1	3	2	4	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33371558C>A	ENST00000428849.2	+	6	858	c.408C>A	c.(406-408)gcC>gcA	p.A136A	KIFC1_ENST00000486695.1_3'UTR	NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	136					blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						AACGTCCAGCCTGGGACTTAA	0.502													A	33371558	C	A	33371558	2	1	364	1	0	0	0	0	0	0	0	1	8370	668	24	4		4	KIFC1	6	33371558	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82952	33371558	137743509	5223	28725											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405668	33405668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcggctgcatctgtaccGtgactcagacaaaaagcgca	11	7	10	13	3	2	2	1	1	1	1	2	2	2	2	2	1	4	4	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33405668G>A	ENST00000418600.2	+	8	1087	c.986G>A	c.(985-987)cGt>cAt	p.R329H	SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R329H|SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R270H|SYNGAP1_ENST00000496374.1_3'UTR	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	329	C2.				negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CATCTGTACCGTGACTCAGAC	0.622													A	33405668	G	A	33405668	3	1	364	1	0	0	0	0	1	0	0	0	15544	1145	40	1	1016	1	SYNGAP1	6	33405668	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34110	33405668	137709399	5224	28726											
ITPR3	3710	broad.mit.edu	37	chr6	33632961	33632961	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgccgtggagaaactcaaCgagggcttcatcagccagaa	13	6	12	10	2	3	2	3	0	0	2	3	4	3	2	2	2	4	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33632961C>T	ENST00000374316.5	+	14	2440	c.1380C>T	c.(1378-1380)aaC>aaT	p.N460N	ITPR3_ENST00000605930.1_Silent_p.N460N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	460					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AGAAACTCAACGAGGGCTTCA	0.577													T	33632961	C	T	33632961	2	4	364	1	0	0	0	0	0	0	0	1	7980	535	19	1		1	ITPR3	6	33632961	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	227293	33632961	137482106	5225	28727											
ITPR3	3710	broad.mit.edu	37	chr6	33633685	33633685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaatgggcagaatgtcctgGacatcatggtcactaagccc	12	8	10	11	0	2	1	2	0	0	1	3	2	3	2	2	3	1	1	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33633685G>T	ENST00000374316.5	+	15	2543	c.1483G>T	c.(1483-1485)Gac>Tac	p.D495Y	ITPR3_ENST00000605930.1_Missense_Mutation_p.D495Y			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	495					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GAATGTCCTGGACATCATGGT	0.577													T	33633685	G	T	33633685	3	4	364	1	0	0	0	0	1	0	0	0	7980	1174	41	4	1537	4	ITPR3	6	33633685	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	724	33633685	137481382	5226	28728											
ITPR3	3710	broad.mit.edu	37	chr6	33635017	33635017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagcacatgttccgcCtgtgctaccgcgtgttgcgg	5	10	11	15	4	0	0	0	0	0	0	1	0	1	0	5	1	5	4	5	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33635017C>A	ENST00000374316.5	+	16	2723	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	ITPR3_ENST00000605930.1_Missense_Mutation_p.L555M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	555					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CATGTTCCGCCTGTGCTACCG	0.647													A	33635017	C	A	33635017	3	1	364	1	0	0	0	0	1	0	0	0	7980	680	24	4	1721	4	ITPR3	6	33635017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1332	33635017	137480050	5227	28729											
ITPR3	3710	broad.mit.edu	37	chr6	33653203	33653203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaaggtgctgcacgaccGcatgaagcgggcccagcagg	9	5	14	13	3	1	1	1	1	0	0	1	2	1	1	2	3	4	4	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33653203G>A	ENST00000374316.5	+	41	6435	c.5375G>A	c.(5374-5376)cGc>cAc	p.R1792H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R1792H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1792					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTGCACGACCGCATGAAGCGG	0.587													A	33653203	G	A	33653203	3	1	364	1	0	0	0	0	1	0	0	0	7980	1087	38	1	5533	1	ITPR3	6	33653203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18186	33653203	137461864	5228	28730											
ITPR3	3710	broad.mit.edu	37	chr6	33655082	33655082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacgtgaagtgggccataAcatctatatcctggcgctgc	9	9	10	13	2	1	1	0	1	1	0	2	1	2	1	3	2	2	1	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33655082A>G	ENST00000374316.5	+	46	7215	c.6155A>G	c.(6154-6156)aAc>aGc	p.N2052S	ITPR3_ENST00000605930.1_Missense_Mutation_p.N2052S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2052					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GTGGGCCATAACATCTATATC	0.622													G	33655082	A	G	33655082	3	3	364	1	0	0	0	0	1	0	0	0	7980	43	2	3	6333	3	ITPR3	6	33655082	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1879	33655082	137459985	5229	28731											
ITPR3	3710	broad.mit.edu	37	chr6	33657132	33657132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgtggcgctcatcctgcGctccatctactatctgggca	6	11	9	15	3	3	0	1	0	2	0	6	0	5	0	2	2	2	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33657132G>A	ENST00000374316.5	+	51	7872	c.6812G>A	c.(6811-6813)cGc>cAc	p.R2271H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2271H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2271					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CTCATCCTGCGCTCCATCTAC	0.582													A	33657132	G	A	33657132	3	1	364	1	0	0	0	0	1	0	0	0	7980	1087	38	1	7010	1	ITPR3	6	33657132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2050	33657132	137457935	5230	28732											
IP6K3	117283	broad.mit.edu	37	chr6	33693227	33693227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcgacctacctgcatgccGcagatgcgcacacccaggca	9	5	10	17	3	0	1	0	0	0	1	0	2	0	1	4	1	5	4	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33693227G>A	ENST00000451316.1	-	6	1291	c.756C>T	c.(754-756)tgC>tgT	p.C252C	IP6K3_ENST00000293756.4_Silent_p.C252C	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	252					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						CCTGCATGCCGCAGATGCGCA	0.667													A	33693227	G	A	33693227	2	1	364	1	0	0	0	0	0	0	0	1	7848	1079	38	1		1	IP6K3	6	33693227	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36095	33693227	137421840	5231	28733											
LEMD2	221496	broad.mit.edu	37	chr6	33740543	33740543	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctcggtcccagacacgCttcatgcgcctcctgcaatg	8	8	9	16	3	1	1	1	0	0	1	4	1	3	1	3	1	3	3	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:33740543C>A	ENST00000293760.5	-	9	1393	c.1374G>T	c.(1372-1374)aaG>aaT	p.K458N	LEMD2_ENST00000508327.1_Missense_Mutation_p.K156N	NM_181336.3	NP_851853.1	Q8NC56	LEMD2_HUMAN	LEM domain containing 2	458						integral to nuclear inner membrane				central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(2)|pancreas(1)	9						CCCAGACACGCTTCATGCGCC	0.622													A	33740543	C	A	33740543	3	1	364	1	0	0	0	0	1	0	0	0	8779	796	28	4	141	4	LEMD2	6	33740543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47316	33740543	137374524	5232	28734											
C6orf1	221491	broad.mit.edu	37	chr6	34214829	34214829	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagtgctcaccttggggtCtcccatgtcagagagcagct	8	9	11	13	0	3	1	2	0	1	1	4	2	3	1	3	2	3	3	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34214829C>T	ENST00000476320.1	-	4	799	c.117G>A	c.(115-117)gaG>gaA	p.E39E	C6orf1_ENST00000481533.1_Silent_p.E39E|C6orf1_ENST00000413013.2_Silent_p.E19E|C6orf1_ENST00000394990.4_Silent_p.E39E|C6orf1_ENST00000468145.1_Silent_p.E39E|C6orf1_ENST00000335352.3_Silent_p.E19E	NM_001008703.1	NP_001008703.1	Q86T20	CF001_HUMAN	chromosome 6 open reading frame 1	39						extracellular region				endometrium(1)|prostate(1)	2		Ovarian(999;0.0228)		BRCA - Breast invasive adenocarcinoma(397;1.11e-10)		ACCTTGGGGTCTCCCATGTCA	0.612											OREG0017364	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34214829	C	T	34214829	2	4	364	1	0	0	0	0	0	0	0	1	2338	912	32	2		2	C6orf1	6	34214829	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	474286	34214829	136900238	5233	28735											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34802047	34802047	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcatcattgtcaattCtatcaccatcaagattcact	12	15	4	10	0	7	1	6	0	1	1	7	2	7	1	1	0	0	1	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34802047C>A	ENST00000192788.5	+	5	563	c.392C>A	c.(391-393)tCt>tAt	p.S131Y	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.S131Y	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	131										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						ATTGTCAATTCTATCACCATC	0.453													A	34802047	C	A	34802047	3	1	364	1	0	0	0	0	1	0	0	0	17070	913	32	4	410	4	UHRF1BP1	6	34802047	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	587218	34802047	136313020	5234	28736											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825955	34825955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgcatcgtccccaggccCttgtcttctctgcgtcaggc	4	12	10	15	2	3	0	1	0	2	0	6	0	4	0	3	2	2	2	3	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34825955C>A	ENST00000192788.5	+	14	1993	c.1822C>A	c.(1822-1824)Ctt>Att	p.L608I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L608I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	608										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TCCCCAGGCCCTTGTCTTCTC	0.498													A	34825955	C	A	34825955	3	1	364	1	0	0	0	0	1	0	0	0	17070	681	24	4	1876	4	UHRF1BP1	6	34825955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23908	34825955	136289112	5235	28737											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34831966	34831966	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatagctttgtgatgctcTtggagtctggtatgtgggag	6	15	16	4	0	2	2	0	2	2	0	2	4	2	4	0	3	2	3	0	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:34831966T>G	ENST00000192788.5	+	15	3574	c.3403T>G	c.(3403-3405)Ttg>Gtg	p.L1135V	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.L1135V	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	1135										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						TGTGATGCTCTTGGAGTCTGG	0.507													G	34831966	T	G	34831966	3	3	364	1	0	0	0	0	1	0	0	0	17070	1606	56	5	3461	5	UHRF1BP1	6	34831966	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6011	34831966	136283101	5236	28738											
ANKS1A	23294	broad.mit.edu	37	chr6	35051220	35051220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acggagcacatgaagaagatCcccaccatcatcctgtccat	13	7	7	14	1	1	3	1	1	0	2	4	4	4	4	5	1	1	1	5	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35051220C>T	ENST00000360359.3	+	20	3072	c.2934C>T	c.(2932-2934)atC>atT	p.I978I	ANKS1A_ENST00000535627.1_Intron	NM_015245.2	NP_056060.2	Q92625	ANS1A_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1A	978	PID.					cytoplasm	protein binding			cervix(2)|endometrium(3)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						TGAAGAAGATCCCCACCATCA	0.547													T	35051220	C	T	35051220	2	4	364	1	0	0	0	0	0	0	0	1	688	845	30	2		2	ANKS1A	6	35051220	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219254	35051220	136063847	5237	28739											
TCP11	6954	broad.mit.edu	37	chr6	35089995	35089995	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgagaacgtacttagaGagatagaggactttcagggc	13	10	13	5	1	1	4	1	1	0	4	1	7	1	5	0	2	2	2	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35089995G>T	ENST00000311875.5	-	5	933	c.516C>A	c.(514-516)ctC>ctA	p.L172L	TCP11_ENST00000244645.3_Silent_p.L97L|TCP11_ENST00000418521.2_Silent_p.L96L|TCP11_ENST00000373974.4_Silent_p.L126L|TCP11_ENST00000444780.2_Silent_p.L167L|TCP11_ENST00000412155.2_Silent_p.L121L|TCP11_ENST00000512012.1_Silent_p.L159L|TCP11_ENST00000373979.2_Silent_p.L97L			Q8WWU5	TCP11_HUMAN	t-complex 11, testis-specific	159					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|kidney(5)|large_intestine(3)|lung(10)|ovary(3)|prostate(1)|skin(4)	27						CGTACTTAGAGAGATAGAGGA	0.483													T	35089995	G	T	35089995	2	4	364	1	0	0	0	0	0	0	0	1	15813	929	33	4		4	TCP11	6	35089995	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38775	35089995	136025072	5238	28740											
SCUBE3	222663	broad.mit.edu	37	chr6	35200674	35200674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggctgtgcccacatttgcCgggagacacccaaggggggt	8	6	15	12	2	0	1	0	0	0	1	0	2	0	1	3	5	2	1	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35200674C>T	ENST00000274938.7	+	5	517	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	SCUBE3_ENST00000394681.1_Missense_Mutation_p.R173W	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	173	EGF-like 4.				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						CCACATTTGCCGGGAGACACC	0.493													T	35200674	C	T	35200674	3	4	364	1	0	0	0	0	1	0	0	0	14039	643	23	1	535	1	SCUBE3	6	35200674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110679	35200674	135914393	5239	28741											
DEF6	50619	broad.mit.edu	37	chr6	35278292	35278292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgtgctggacgctgacGgccaagaagaactatcgggc	10	6	15	10	3	0	3	0	1	0	2	1	5	0	4	1	3	3	3	1	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35278292G>A	ENST00000316637.5	+	3	299	c.294G>A	c.(292-294)acG>acA	p.T98T	DEF6_ENST00000542066.1_5'UTR	NM_022047.3	NP_071330.3	Q9H4E7	DEFI6_HUMAN	differentially expressed in FDCP 6 homolog (mouse)	98						cytoplasm|nucleus|plasma membrane				cervix(1)|endometrium(2)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	15						GGACGCTGACGGCCAAGAAGA	0.537													A	35278292	G	A	35278292	2	1	364	1	0	0	0	0	0	0	0	1	4420	1103	39	1		1	DEF6	6	35278292	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77618	35278292	135836775	5240	28742											
TEAD3	7005	broad.mit.edu	37	chr6	35446068	35446068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcactcctgagagggtccagGctgctgtcccaggagagggg	7	7	16	11	0	1	2	1	1	0	2	4	4	4	2	3	5	1	2	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35446068G>A	ENST00000338863.7	-	7	741	c.514C>T	c.(514-516)Cct>Tct	p.P172S	TEAD3_ENST00000402886.3_Missense_Mutation_p.P112S	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	172	Pro-rich.				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAGGGTCCAGGCTGCTGTCCC	0.607													A	35446068	G	A	35446068	3	1	364	1	0	0	0	0	1	0	0	0	15840	1203	42	2	821	2	TEAD3	6	35446068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167776	35446068	135668999	5241	28743											
TULP1	7287	broad.mit.edu	37	chr6	35477678	35477678	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctaacacgcagaggtttcGgtggggggtcagggcttccc	6	9	15	11	2	1	1	1	0	0	1	4	1	3	1	2	6	1	3	2	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35477678G>T	ENST00000229771.6	-	6	606	c.527C>A	c.(526-528)cCg>cAg	p.P176Q	TULP1_ENST00000322263.4_Missense_Mutation_p.P123Q	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	176					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						CAGAGGTTTCGGTGGGGGGTC	0.567													T	35477678	G	T	35477678	3	4	364	1	0	0	0	0	1	0	0	0	16875	1116	39	4	1141	4	TULP1	6	35477678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31610	35477678	135637389	5242	28744											
SRPK1	6732	broad.mit.edu	37	chr6	35810363	35810363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcaaacaaatagtcacCtgtggccagttcaaaggcct	13	9	9	10	0	3	0	3	0	0	0	3	0	3	0	3	3	1	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35810363C>A	ENST00000373825.2	-	14	1924	c.1639G>T	c.(1639-1641)Ggt>Tgt	p.G547C	SRPK1_ENST00000373822.1_Missense_Mutation_p.G439C|SRPK1_ENST00000423325.2_Missense_Mutation_p.G531C			Q96SB4	SRPK1_HUMAN	SRSF protein kinase 1	547	Protein kinase.				cell differentiation|chromosome segregation|interspecies interaction between organisms|intracellular protein kinase cascade|mRNA processing|negative regulation of viral genome replication|positive regulation of viral genome replication|regulation of mRNA processing|RNA splicing	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(10)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21						AAATAGTCACCTGTGGCCAGT	0.418													A	35810363	C	A	35810363	3	1	364	1	0	0	0	0	1	0	0	0	15255	681	24	4	340	4	SRPK1	6	35810363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	332685	35810363	135304704	5243	28745											
SLC26A8	116369	broad.mit.edu	37	chr6	35912039	35912039	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcttctacaggctgttGgatcttgatgaagcctggac	7	13	10	11	0	3	2	0	2	3	0	4	4	4	4	2	3	2	2	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35912039G>A	ENST00000490799.1	-	20	2904	c.2551C>T	c.(2551-2553)Caa>Taa	p.Q851*	SLC26A8_ENST00000394602.2_Nonsense_Mutation_p.Q746*|SLC26A8_ENST00000355574.2_Nonsense_Mutation_p.Q851*	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	851	Interaction with RACGAP1.				cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						ACAGGCTGTTGGATCTTGATG	0.463													A	35912039	G	A	35912039	4	1	364	1	0	0	0	0	0	1	0	0	14617	1357	47	2	365	2	SLC26A8	6	35912039	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101676	35912039	135203028	5244	28746											
SLC26A8	116369	broad.mit.edu	37	chr6	35943152	35943152	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattgtatttcaacatacCtgttgtcttcctccagattt	10	17	4	10	0	2	1	1	0	1	1	4	1	4	1	3	0	2	2	3	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35943152C>A	ENST00000490799.1	-	10	1640	c.1287G>T	c.(1285-1287)caG>caT	p.Q429H	SLC26A8_ENST00000394602.2_Splice_Site_p.Q324H|SLC26A8_ENST00000355574.2_Splice_Site_p.Q429H	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	429					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TTCAACATACCTGTTGTCTTC	0.338													A	35943152	C	A	35943152	5	1	364	1	0	0	0	0	0	0	1	0	14617	695	24	4	1669	4	SLC26A8	6	35943152	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31113	35943152	135171915	5245	28747											
SLC26A8	116369	broad.mit.edu	37	chr6	35949922	35949922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaatcatgtcaataagcGtctggctggtttctgtggcc	9	12	12	8	1	4	0	2	0	2	0	4	1	4	1	1	4	1	2	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35949922G>A	ENST00000490799.1	-	8	1354	c.1001C>T	c.(1000-1002)aCg>aTg	p.T334M	SLC26A8_ENST00000394602.2_Missense_Mutation_p.T229M|SLC26A8_ENST00000355574.2_Missense_Mutation_p.T334M	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	334					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAATAAGCGTCTGGCTGGT	0.423													A	35949922	G	A	35949922	3	1	364	1	0	0	0	0	1	0	0	0	14617	1145	40	1	1963	1	SLC26A8	6	35949922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6770	35949922	135165145	5246	28748											
SLC26A8	116369	broad.mit.edu	37	chr6	35965538	35965538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataatcccagtcagaaaagTtgtggttgccaccacactca	14	9	7	11	0	2	1	2	0	0	1	3	1	3	1	3	1	1	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35965538T>C	ENST00000490799.1	-	5	957	c.604A>G	c.(604-606)Act>Gct	p.T202A	SLC26A8_ENST00000394602.2_Missense_Mutation_p.T202A|SLC26A8_ENST00000355574.2_Missense_Mutation_p.T202A	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	202					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GTCAGAAAAGTTGTGGTTGCC	0.448													C	35965538	T	C	35965538	3	2	364	1	0	0	0	0	1	0	0	0	14617	1725	60	3	2372	3	SLC26A8	6	35965538	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15616	35965538	135149529	5247	28749											
SLC26A8	116369	broad.mit.edu	37	chr6	35980071	35980071	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcccagaagccaatcCtttaatcgatacatacacat	15	10	4	12	1	1	1	0	0	1	1	4	2	2	1	3	0	3	0	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35980071C>A	ENST00000490799.1	-	3	620	c.267G>T	c.(265-267)aaG>aaT	p.K89N	SLC26A8_ENST00000394602.2_Missense_Mutation_p.K89N|SLC26A8_ENST00000355574.2_Missense_Mutation_p.K89N	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	89					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						GAAGCCAATCCTTTAATCGAT	0.458													A	35980071	C	A	35980071	3	1	364	1	0	0	0	0	1	0	0	0	14617	680	24	4	2717	4	SLC26A8	6	35980071	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14533	35980071	135134996	5248	28750											
SLC26A8	116369	broad.mit.edu	37	chr6	35987396	35987396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgaaaggtctcctcattgTatacttcacgcttaacatca	11	14	6	10	1	4	1	3	1	1	0	5	1	4	1	1	1	2	3	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:35987396T>C	ENST00000490799.1	-	2	442	c.89A>G	c.(88-90)tAc>tGc	p.Y30C	SLC26A8_ENST00000394602.2_Missense_Mutation_p.Y30C|SLC26A8_ENST00000355574.2_Missense_Mutation_p.Y30C	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	30					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						CTCCTCATTGTATACTTCACG	0.493													C	35987396	T	C	35987396	3	2	364	1	0	0	0	0	1	0	0	0	14617	1638	57	3	2899	3	SLC26A8	6	35987396	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7325	35987396	135127671	5249	28751											
MAPK13	5603	broad.mit.edu	37	chr6	36103602	36103602	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagttcagtgaggagaagatCcagtacctggtgtatcagat	12	10	13	6	0	2	4	2	1	0	3	3	6	3	4	2	2	1	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36103602C>T	ENST00000211287.4	+	4	643	c.381C>T	c.(379-381)atC>atT	p.I127I	MAPK13_ENST00000490334.1_3'UTR|MAPK13_ENST00000373766.5_Silent_p.I127I|MAPK13_ENST00000373761.6_Silent_p.I127I|MAPK13_ENST00000373759.1_Silent_p.I49I	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	127	Protein kinase.				cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AGGAGAAGATCCAGTACCTGG	0.552													T	36103602	C	T	36103602	2	4	364	1	0	0	0	0	0	0	0	1	9350	845	30	2		2	MAPK13	6	36103602	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116206	36103602	135011465	5250	28752											
MAPK13	5603	broad.mit.edu	37	chr6	36107125	36107125	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgcccggaaggactcacGgcgccggagtggcatgaagc	9	5	15	12	4	1	1	1	1	0	0	1	4	1	4	2	5	2	1	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36107125G>A	ENST00000211287.4	+	12	1335	c.1073G>A	c.(1072-1074)cGg>cAg	p.R358Q	MAPK13_ENST00000373766.5_3'UTR|MAPK13_ENST00000373761.6_Missense_Mutation_p.R348Q	NM_002754.4	NP_002745.1	O15264	MK13_HUMAN	mitogen-activated protein kinase 13	358					cell cycle|intracellular protein kinase cascade|nerve growth factor receptor signaling pathway|positive regulation of interleukin-6 production|Ras protein signal transduction|response to stress		ATP binding|MAP kinase activity|protein binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(2)|prostate(2)|skin(1)	12						AAGGACTCACGGCGCCGGAGT	0.552													A	36107125	G	A	36107125	3	1	364	1	0	0	0	0	1	0	0	0	9350	1116	39	1	1119	1	MAPK13	6	36107125	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3523	36107125	135007942	5251	28753											
BRPF3	27154	broad.mit.edu	37	chr6	36178155	36178155	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagacacaattttccacCgagcagctgtccgcctgcgg	10	8	9	14	3	0	1	0	0	0	1	2	2	2	1	4	1	3	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178155C>T	ENST00000357641.6	+	6	2282	c.2029C>T	c.(2029-2031)Cga>Tga	p.R677*	BRPF3_ENST00000543502.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534694.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000339717.7_Nonsense_Mutation_p.R677*|BRPF3_ENST00000534400.1_Nonsense_Mutation_p.R677*|BRPF3_ENST00000443324.2_Nonsense_Mutation_p.R677*	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	677					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						AATTTTCCACCGAGCAGCTGT	0.572													T	36178155	C	T	36178155	4	4	364	1	0	0	0	0	0	1	0	0	1530	644	23	1	2047	1	BRPF3	6	36178155	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71030	36178155	134936912	5252	28754											
BRPF3	27154	broad.mit.edu	37	chr6	36178260	36178260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggggcactcacctgcccGagtcacccaaattggaagac	12	5	11	13	1	2	2	2	0	0	2	2	4	2	3	3	3	1	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36178260G>A	ENST00000357641.6	+	6	2387	c.2134G>A	c.(2134-2136)Gag>Aag	p.E712K	BRPF3_ENST00000543502.1_Missense_Mutation_p.E712K|BRPF3_ENST00000534694.1_Missense_Mutation_p.E712K|BRPF3_ENST00000339717.7_Missense_Mutation_p.E712K|BRPF3_ENST00000534400.1_Missense_Mutation_p.E712K|BRPF3_ENST00000443324.2_Missense_Mutation_p.E712K	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	712					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						TCACCTGCCCGAGTCACCCAA	0.652													A	36178260	G	A	36178260	3	1	364	1	0	0	0	0	1	0	0	0	1530	1059	37	1	2152	1	BRPF3	6	36178260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105	36178260	134936807	5253	28755											
PNPLA1	285848	broad.mit.edu	37	chr6	36262002	36262002	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcacgggcatgcagccCtgtgccttctggaccgacgc	5	8	13	15	3	2	0	1	0	1	0	2	2	2	1	3	3	3	3	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36262002C>A	ENST00000394571.2	+	4	540	c.540C>A	c.(538-540)ccC>ccA	p.P180P	PNPLA1_ENST00000388715.3_Silent_p.P85P|PNPLA1_ENST00000312917.5_Silent_p.P94P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	180	Patatin.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCATGCAGCCCTGTGCCTTCT	0.622													A	36262002	C	A	36262002	2	1	364	1	0	0	0	0	0	0	0	1	12241	668	24	4		4	PNPLA1	6	36262002	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83742	36262002	134853065	5254	28756											
PNPLA1	285848	broad.mit.edu	37	chr6	36270205	36270205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctctttcagccttccctgCtcagccacctgtggaggaac	6	12	8	15	0	3	0	2	0	1	0	5	2	4	2	4	2	4	1	4	2	1	3	rs141744967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36270205C>A	ENST00000394571.2	+	6	1343	c.1343C>A	c.(1342-1344)gCt>gAt	p.A448D	PNPLA1_ENST00000388715.3_Missense_Mutation_p.A353D|PNPLA1_ENST00000312917.5_Missense_Mutation_p.A362D	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	448	Pro-rich.				lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						GCCTTCCCTGCTCAGCCACCT	0.582											OREG0017382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36270205	C	A	36270205	3	1	364	1	0	0	0	0	1	0	0	0	12241	797	28	4	1392	4	PNPLA1	6	36270205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8203	36270205	134844862	5255	28757											
C6orf222	389384	broad.mit.edu	37	chr6	36298234	36298234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaaatctccggtctcctcGggagtgggggctgcagcggt	7	8	16	10	3	2	1	0	0	2	1	5	2	2	2	2	5	2	2	2	5	2	0	rs138487840	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36298234G>A	ENST00000437635.2	-	2	411	c.234C>T	c.(232-234)ccC>ccT	p.P78P		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	78										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CGGTCTCCTCGGGAGTGGGGG	0.612													A	36298234	G	A	36298234	2	1	364	1	0	0	0	0	0	0	0	1	2378	1103	39	1		1	C6orf222	6	36298234	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28029	36298234	134816833	5256	28758											
ETV7	51513	broad.mit.edu	37	chr6	36343712	36343712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggcgcgtccgttcatCtcgaacccgtgctccgcggt	5	8	13	15	7	2	1	1	0	1	1	5	2	4	1	3	2	2	2	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36343712C>A	ENST00000339796.5	-	3	1088	c.243G>T	c.(241-243)gaG>gaT	p.E81D	ETV7_ENST00000538992.1_Intron|ETV7_ENST00000340181.4_Missense_Mutation_p.E81D|ETV7_ENST00000373737.4_Missense_Mutation_p.E81D|ETV7_ENST00000373738.1_Intron	NM_001207035.1	NP_001193964.1	Q9Y603	ETV7_HUMAN	ets variant 7	81	PNT.				organ morphogenesis|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(4)	10						GTCCGTTCATCTCGAACCCGT	0.647													A	36343712	C	A	36343712	3	1	364	1	0	0	0	0	1	0	0	0	5325	912	32	4	806	4	ETV7	6	36343712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45478	36343712	134771355	5257	28759											
STK38	11329	broad.mit.edu	37	chr6	36464531	36464531	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaaactcatcgaagttTgaggtatcatcaatgctttt	11	15	8	7	1	4	1	3	1	1	0	5	3	4	2	0	2	2	3	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36464531T>C	ENST00000229812.7	-	13	1509	c.1224A>G	c.(1222-1224)tcA>tcG	p.S408S		NM_007271.2	NP_009202.1	Q15208	STK38_HUMAN	serine/threonine kinase 38	408	AGC-kinase C-terminal.				intracellular protein kinase cascade|negative regulation of MAP kinase activity	cytoplasm|MLL5-L complex	ATP binding|magnesium ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine kinase activity			NS(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCGAAGTTTGAGGTATCAT	0.378													C	36464531	T	C	36464531	2	2	364	1	0	0	0	0	0	0	0	1	15399	1799	63	3		3	STK38	6	36464531	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120819	36464531	134650536	5258	28760											
C6orf89	221477	broad.mit.edu	37	chr6	36870003	36870003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctttccttgtaggttctcGcaaccttgggattaatcttg	7	17	8	9	1	3	0	0	0	3	0	5	1	4	1	2	2	1	3	2	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36870003G>A	ENST00000480824.2	+	4	490	c.196G>A	c.(196-198)Gca>Aca	p.A66T	C6orf89_ENST00000359359.2_5'UTR|C6orf89_ENST00000355190.3_Missense_Mutation_p.A73T|C6orf89_ENST00000373685.1_Missense_Mutation_p.A66T|C6orf89_ENST00000510325.2_Intron			Q6UWU4	CF089_HUMAN	chromosome 6 open reading frame 89	66						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	15						GTAGGTTCTCGCAACCTTGGG	0.428													A	36870003	G	A	36870003	3	1	364	1	0	0	0	0	1	0	0	0	2396	1087	38	1	227	1	C6orf89	6	36870003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405472	36870003	134245064	5259	28761											
MTCH1	23787	broad.mit.edu	37	chr6	36945015	36945015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaactggaccatgcagcGcattgagatgactgaggaaa	15	6	11	9	1	0	3	0	3	0	1	0	6	0	5	1	2	3	2	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945015G>A	ENST00000373627.5	-	6	785	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	MTCH1_ENST00000538808.1_Missense_Mutation_p.R65C|MTCH1_ENST00000373616.5_Missense_Mutation_p.R221C	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	221					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						ACCATGCAGCGCATTGAGATG	0.562											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36945015	G	A	36945015	3	1	364	1	0	0	0	0	1	0	0	0	9989	1087	38	1	485	1	MTCH1	6	36945015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75012	36945015	134170052	5260	28762											
MTCH1	23787	broad.mit.edu	37	chr6	36945433	36945433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagggggtgggccaacatgCgggacacacactgcatcatc	10	5	14	12	1	1	0	1	0	0	0	2	1	1	1	1	4	3	2	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36945433C>T	ENST00000373627.5	-	5	750	c.626G>A	c.(625-627)cGc>cAc	p.R209H	MTCH1_ENST00000538808.1_Missense_Mutation_p.R53H|MTCH1_ENST00000373616.5_Missense_Mutation_p.R209H	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	209					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						GGCCAACATGCGGGACACACA	0.662											OREG0017393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	36945433	C	T	36945433	3	4	364	1	0	0	0	0	1	0	0	0	9989	768	27	1	524	1	MTCH1	6	36945433	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418	36945433	134169634	5261	28763											
MTCH1	23787	broad.mit.edu	37	chr6	36949365	36949365	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgggaggcacactcaccGtaggtgaagaagctcggcag	10	6	15	10	2	1	2	1	1	0	1	2	3	1	3	1	4	1	5	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949365G>A	ENST00000373627.5	-	2	529	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MTCH1_ENST00000538808.1_Intron|MTCH1_ENST00000373616.5_Splice_Site_p.Y135Y	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	135					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						CACACTCACCGTAGGTGAAGA	0.592													A	36949365	G	A	36949365	5	1	364	1	0	0	0	0	0	0	1	0	9989	1159	40	1	757	1	MTCH1	6	36949365	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3932	36949365	134165702	5262	28764											
MTCH1	23787	broad.mit.edu	37	chr6	36949430	36949430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attggtcccaagggtgggggGcatcggctcatgacccacct	7	8	14	12	1	1	1	1	1	0	0	3	1	2	1	3	6	0	2	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:36949430G>A	ENST00000373627.5	-	2	464	c.340C>T	c.(340-342)Ccc>Tcc	p.P114S	MTCH1_ENST00000538808.1_Intron|MTCH1_ENST00000373616.5_Missense_Mutation_p.P114S	NM_001271641.1	NP_001258570.1	Q9NZJ7	MTCH1_HUMAN	mitochondrial carrier 1	114					activation of caspase activity|neuronal ion channel clustering|positive regulation of apoptosis|regulation of signal transduction|transport	integral to membrane|mitochondrial inner membrane	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	6						AGGGTGGGGGGCATCGGCTCA	0.577													A	36949430	G	A	36949430	3	1	364	1	0	0	0	0	1	0	0	0	9989	1203	42	2	822	2	MTCH1	6	36949430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65	36949430	134165637	5263	28765											
PIM1	5292	broad.mit.edu	37	chr6	37139015	37139015	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgacagtttcgtcctgAtcctggagaggcccgagccg	6	7	14	14	4	0	2	0	1	0	1	3	5	2	2	5	3	1	1	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139015A>C	ENST00000373509.5	+	4	728	c.355A>C	c.(355-357)Atc>Ctc	p.I119L		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	210					cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TTTCGTCCTGATCCTGGAGAG	0.602			T	BCL6	NHL								C	37139015	A	C	37139015	3	2	364	1	0	0	0	0	1	0	0	0	12004	333	12	5	369	5	PIM1	6	37139015	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189585	37139015	133976052	5264	28766											
PIM1	5292	broad.mit.edu	37	chr6	37139065	37139065	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcttcgacttcatcacggaAaggggagccctgcaagagga	11	7	12	11	2	3	1	2	0	1	1	4	5	3	4	1	4	2	1	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37139065A>G	ENST00000373509.5	+	4	778	c.405A>G	c.(403-405)gaA>gaG	p.E135E		NM_001243186.1|NM_002648.3	NP_001230115.1|NP_002639.1	P11309	PIM1_HUMAN	pim-1 oncogene	226	Protein kinase.				cell cycle|cell proliferation|multicellular organismal development|negative regulation of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|protein autophosphorylation	cytoplasm|nucleus|plasma membrane	ATP binding|manganese ion binding|protein binding|protein serine/threonine kinase activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(17)|large_intestine(4)|lung(3)|prostate(2)|skin(2)	30			OV - Ovarian serous cystadenocarcinoma(102;0.241)		Adenosine monophosphate(DB00131)	TCATCACGGAAAGGGGAGCCC	0.632			T	BCL6	NHL								G	37139065	A	G	37139065	2	3	364	1	0	0	0	0	0	0	0	1	12004	11	1	3		3	PIM1	6	37139065	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	50	37139065	133976002	5265	28767											
RNF8	9025	broad.mit.edu	37	chr6	37328321	37328321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgttttgaagcagaatcctGagggccaatggacaattatg	12	11	12	6	0	0	3	0	2	0	1	1	4	1	4	2	2	1	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37328321G>A	ENST00000373479.4	+	2	404	c.211G>A	c.(211-213)Gag>Aag	p.E71K	RNF8_ENST00000394443.4_Missense_Mutation_p.E71K|RNF8_ENST00000479516.1_3'UTR|RNF8_ENST00000469731.1_Missense_Mutation_p.E71K	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	71	FHA.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GCAGAATCCTGAGGGCCAATG	0.383													A	37328321	G	A	37328321	3	1	364	1	0	0	0	0	1	0	0	0	13591	1291	45	2	217	2	RNF8	6	37328321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189256	37328321	133786746	5266	28768											
MDGA1	266727	broad.mit.edu	37	chr6	37620022	37620022	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctggggcactgcatcCacgtggcacgatagcttcag	7	10	11	13	2	2	0	1	0	1	0	4	1	3	0	2	3	2	4	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:37620022C>A	ENST00000297153.7	-	7	2255	c.1077G>T	c.(1075-1077)gtG>gtT	p.V359V	MDGA1_ENST00000505425.1_Silent_p.V359V|MDGA1_ENST00000434837.3_Silent_p.V359V			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	359	Ig-like 4.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GCACTGCATCCACGTGGCACG	0.562													A	37620022	C	A	37620022	2	1	364	1	0	0	0	0	0	0	0	1	9481	581	21	4		4	MDGA1	6	37620022	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291701	37620022	133495045	5267	28769											
DNAH8	1769	broad.mit.edu	37	chr6	38705719	38705719	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcagctggaggaagtgCtgatggtatggtacaaacag	12	10	13	6	0	2	1	2	1	0	0	2	3	2	3	0	4	4	4	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38705719C>T	ENST00000359357.3	+	5	690	c.436C>T	c.(436-438)Ctg>Ttg	p.L146L	DNAH8_ENST00000441566.1_Silent_p.L146L|DNAH8_ENST00000449981.2_Silent_p.L363L					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGAGGAAGTGCTGATGGTATG	0.403													T	38705719	C	T	38705719	2	4	364	1	0	0	0	0	0	0	0	1	4646	796	28	2		2	DNAH8	6	38705719	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1085697	38705719	132409348	5268	28770											
DNAH8	1769	broad.mit.edu	37	chr6	38810662	38810662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaagcaccactccttaaaCataaggatgatattgaggta	15	10	9	7	0	0	2	0	2	0	0	1	4	1	4	2	3	2	2	2	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38810662C>T	ENST00000359357.3	+	33	4431	c.4177C>T	c.(4177-4179)Cat>Tat	p.H1393Y	DNAH8_ENST00000441566.1_Missense_Mutation_p.H1393Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.H1610Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACTCCTTAAACATAAGGATGA	0.358													T	38810662	C	T	38810662	3	4	364	1	0	0	0	0	1	0	0	0	4646	478	17	2	4299	2	DNAH8	6	38810662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104943	38810662	132304405	5269	28771											
DNAH8	1769	broad.mit.edu	37	chr6	38879306	38879306	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttataaatggttataaaaAcatttatgctgaaaaggtga	18	14	7	2	0	0	2	0	2	0	0	0	2	0	2	0	2	2	2	0	2	10	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38879306A>C	ENST00000359357.3	+	64	9406	c.9152A>C	c.(9151-9153)aAc>aCc	p.N3051T	DNAH8_ENST00000441566.1_Missense_Mutation_p.N3015T|DNAH8_ENST00000449981.2_Missense_Mutation_p.N3268T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GGTTATAAAAACATTTATGCT	0.358													C	38879306	A	C	38879306	3	2	364	1	0	0	0	0	1	0	0	0	4646	43	2	5	9398	5	DNAH8	6	38879306	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68644	38879306	132235761	5270	28772											
DNAH8	1769	broad.mit.edu	37	chr6	38893864	38893864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctacagggattaccaggaGatgatctctcaattcagaat	13	10	10	8	0	3	3	2	1	1	2	4	5	3	4	1	3	2	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38893864G>T	ENST00000359357.3	+	72	10599	c.10345G>T	c.(10345-10347)Gat>Tat	p.D3449Y	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.D3413Y|DNAH8_ENST00000449981.2_Missense_Mutation_p.D3666Y					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTACCAGGAGATGATCTCTC	0.418													T	38893864	G	T	38893864	3	4	364	1	0	0	0	0	1	0	0	0	4646	942	33	4	10623	4	DNAH8	6	38893864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14558	38893864	132221203	5271	28773											
DNAH8	1769	broad.mit.edu	37	chr6	38905866	38905866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgagatcaagatcaacgcgGctcaggaggagttccggccc	10	6	13	12	3	3	2	3	1	0	2	4	5	4	4	2	4	1	2	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905866G>A	ENST00000359357.3	+	76	11283	c.11029G>A	c.(11029-11031)Gct>Act	p.A3677T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.A3641T|DNAH8_ENST00000449981.2_Missense_Mutation_p.A3894T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GATCAACGCGGCTCAGGAGGA	0.517													A	38905866	G	A	38905866	3	1	364	1	0	0	0	0	1	0	0	0	4646	1203	42	2	11323	2	DNAH8	6	38905866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12002	38905866	132209201	5272	28774											
DNAH8	1769	broad.mit.edu	37	chr6	38905958	38905958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacatcatgtatcagacGtcattggcccagttcttgaa	11	12	8	10	1	5	2	4	1	1	1	5	2	5	2	1	1	1	2	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38905958G>A	ENST00000359357.3	+	76	11375	c.11121G>A	c.(11119-11121)acG>acA	p.T3707T	RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Silent_p.T3671T|DNAH8_ENST00000449981.2_Silent_p.T3924T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGTATCAGACGTCATTGGCCC	0.502													A	38905958	G	A	38905958	2	1	364	1	0	0	0	0	0	0	0	1	4646	1132	40	1		1	DNAH8	6	38905958	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92	38905958	132209109	5273	28775											
DNAH8	1769	broad.mit.edu	37	chr6	38980372	38980372	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgtggatatttgaagggaGgcctaatgtgttttggatga	10	14	14	3	1	0	2	0	2	0	0	0	5	0	5	1	4	1	1	1	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38980372G>T	ENST00000359357.3	+	89	13276	c.13022G>T	c.(13021-13023)aGg>aTg	p.R4341M	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4305M					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTTGAAGGGAGGCCTAATGTG	0.423													T	38980372	G	T	38980372	3	4	364	1	0	0	0	0	1	0	0	0	4646	1000	35	4	13368	4	DNAH8	6	38980372	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74414	38980372	132134695	5274	28776											
DNAH8	1769	broad.mit.edu	37	chr6	38998068	38998068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatttacaagaaacccaggcGaactgatttgaccttcatca	14	11	6	10	1	2	3	2	2	0	1	2	4	2	3	2	1	3	0	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:38998068G>A	ENST00000359357.3	+	91	13627	c.13373G>A	c.(13372-13374)cGa>cAa	p.R4458Q	DNAH8_ENST00000441566.1_Missense_Mutation_p.R4422Q					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAACCCAGGCGAACTGATTTG	0.488													A	38998068	G	A	38998068	3	1	364	1	0	0	0	0	1	0	0	0	4646	1058	37	1	13727	1	DNAH8	6	38998068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17696	38998068	132116999	5275	28777											
KCNK5	8645	broad.mit.edu	37	chr6	39159385	39159385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggactccttccgtcgccGccgccgcttcttaatggctt	6	11	9	15	5	1	0	0	0	1	0	4	1	3	1	5	2	0	2	5	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39159385G>A	ENST00000359534.3	-	5	1119	c.781C>T	c.(781-783)Cgg>Tgg	p.R261W		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	261					excretion	integral to plasma membrane	potassium channel activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TTCCGTCGCCGCCGCCGCTTC	0.572													A	39159385	G	A	39159385	3	1	364	1	0	0	0	0	1	0	0	0	8127	1086	38	1	722	1	KCNK5	6	39159385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161317	39159385	131955682	5276	28778											
KCNK16	83795	broad.mit.edu	37	chr6	39284631	39284631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctcgctgaagctccaGccctccacatggctgaagac	10	6	9	16	1	0	3	0	2	0	1	3	3	2	3	4	1	3	3	4	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39284631G>A	ENST00000425054.2	-	4	587	c.588C>T	c.(586-588)ggC>ggT	p.G196G	KCNK16_ENST00000373227.4_Silent_p.G196G|KCNK16_ENST00000373229.5_Silent_p.G196G|KCNK16_ENST00000507712.1_Silent_p.G131G|KCNK16_ENST00000437525.2_Silent_p.G196G	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	196						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TGAAGCTCCAGCCCTCCACAT	0.532													A	39284631	G	A	39284631	2	1	364	1	0	0	0	0	0	0	0	1	8121	958	34	2		2	KCNK16	6	39284631	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125246	39284631	131830436	5277	28779											
KCNK16	83795	broad.mit.edu	37	chr6	39285629	39285629	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacgcagccctgtgcccAggtggttgaggaagatcacg	8	6	16	11	2	1	2	1	1	0	1	1	3	1	3	2	4	2	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39285629A>G	ENST00000425054.2	-	3	427	c.428T>C	c.(427-429)cTg>cCg	p.L143P	KCNK16_ENST00000373227.4_Missense_Mutation_p.L143P|KCNK16_ENST00000373229.5_Missense_Mutation_p.L143P|KCNK16_ENST00000507712.1_Missense_Mutation_p.L78P|KCNK16_ENST00000437525.2_Missense_Mutation_p.L143P	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	143						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CCCTGTGCCCAGGTGGTTGAG	0.602													G	39285629	A	G	39285629	3	3	364	1	0	0	0	0	1	0	0	0	8121	188	7	3	902	3	KCNK16	6	39285629	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	998	39285629	131829438	5278	28780											
KCNK16	83795	broad.mit.edu	37	chr6	39290160	39290160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtagttctccaggaagcGcagcttctccaactgaaact	10	10	10	11	1	2	1	0	1	2	0	4	2	2	2	2	2	4	4	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39290160G>A	ENST00000425054.2	-	1	156	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	KCNK16_ENST00000373227.4_Missense_Mutation_p.R53C|KCNK16_ENST00000373229.5_Missense_Mutation_p.R53C|KCNK16_ENST00000507712.1_5'UTR|KCNK16_ENST00000437525.2_Missense_Mutation_p.R53C	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	53						integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						TCCAGGAAGCGCAGCTTCTCC	0.592													A	39290160	G	A	39290160	3	1	364	1	0	0	0	0	1	0	0	0	8121	1087	38	1	1181	1	KCNK16	6	39290160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4531	39290160	131824907	5279	28781											
KIF6	221458	broad.mit.edu	37	chr6	39507779	39507779	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatttagtcaactgacCtattttcttgtggagcaaac	12	14	8	7	0	2	1	1	1	1	0	2	3	2	3	1	2	3	1	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39507779C>A	ENST00000287152.7	-	13	1739	c.1645G>T	c.(1645-1647)Gga>Tga	p.G549*	KIF6_ENST00000373216.3_Splice_Site_p.G549*|KIF6_ENST00000373213.4_Splice_Site_p.G388*|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Splice_Site_p.G549*	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	549					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GTCAACTGACCTATTTTCTTG	0.418													A	39507779	C	A	39507779	5	1	364	1	0	0	0	0	0	0	1	0	8366	695	24	4	843	4	KIF6	6	39507779	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217619	39507779	131607288	5280	28782											
KIF6	221458	broad.mit.edu	37	chr6	39554052	39554052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacatcaagattccttttCtccaaggagagtgttgcaat	12	13	7	9	0	2	2	1	0	1	2	4	3	3	2	2	1	2	2	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39554052C>A	ENST00000287152.7	-	8	1069	c.975G>T	c.(973-975)gaG>gaT	p.E325D	KIF6_ENST00000373216.3_Missense_Mutation_p.E325D|KIF6_ENST00000373213.4_Missense_Mutation_p.E164D|KIF6_ENST00000538893.1_Missense_Mutation_p.E325D|KIF6_ENST00000373215.3_Missense_Mutation_p.E325D	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	325					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						GATTCCTTTTCTCCAAGGAGA	0.448													A	39554052	C	A	39554052	3	1	364	1	0	0	0	0	1	0	0	0	8366	912	32	4	1533	4	KIF6	6	39554052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46273	39554052	131561015	5281	28783											
MOCS1	4337	broad.mit.edu	37	chr6	39881125	39881125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagtcaaggccgcaaaGtccaggagttcatcctcgtt	9	9	9	14	2	3	0	3	0	0	0	6	1	5	1	4	2	0	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39881125G>A	ENST00000373186.4	-	5	830	c.693C>T	c.(691-693)gaC>gaT	p.D231D	MOCS1_ENST00000425303.2_Silent_p.D231D|MOCS1_ENST00000308559.7_Silent_p.D231D|MOCS1_ENST00000340692.5_Silent_p.D231D|MOCS1_ENST00000373188.2_Silent_p.D231D|MOCS1_ENST00000432280.2_Silent_p.D202D|MOCS1_ENST00000373195.3_Silent_p.D144D|MOCS1_ENST00000373175.4_Silent_p.D202D	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	231	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					AGGCCGCAAAGTCCAGGAGTT	0.567													A	39881125	G	A	39881125	2	1	364	1	0	0	0	0	0	0	0	1	9766	1020	36	2		2	MOCS1	6	39881125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327073	39881125	131233942	5282	28784											
MOCS1	4337	broad.mit.edu	37	chr6	39895295	39895295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccttactctgacatctgtgCggagcttccaactcttccac	7	12	6	16	1	3	1	0	1	3	0	5	2	5	2	3	1	4	1	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:39895295C>T	ENST00000373186.4	-	1	160	c.23G>A	c.(22-24)cGc>cAc	p.R8H	MOCS1_ENST00000425303.2_Missense_Mutation_p.R8H|MOCS1_ENST00000308559.7_Intron|MOCS1_ENST00000340692.5_Intron|MOCS1_ENST00000373188.2_Intron|MOCS1_ENST00000432280.2_Missense_Mutation_p.R8H|MOCS1_ENST00000373195.3_Intron|MOCS1_ENST00000373175.4_Missense_Mutation_p.R8H	NM_005943.5	NP_005934.2	Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	0	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex|nucleus	4 iron, 4 sulfur cluster binding|catalytic activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					GACATCTGTGCGGAGCTTCCA	0.592													T	39895295	C	T	39895295	3	4	364	1	0	0	0	0	1	0	0	0	9766	768	27	1	1170	1	MOCS1	6	39895295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14170	39895295	131219772	5283	28785											
LRFN2	57497	broad.mit.edu	37	chr6	40400646	40400646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcatgttggcaaagtcctgGcggctgatgtggatgatgaa	9	11	15	6	1	1	3	1	3	0	0	2	4	2	4	1	4	0	3	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40400646G>A	ENST00000338305.6	-	2	749	c.207C>T	c.(205-207)cgC>cgT	p.R69R		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	69						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CAAAGTCCTGGCGGCTGATGT	0.612													A	40400646	G	A	40400646	2	1	364	1	0	0	0	0	0	0	0	1	9008	1190	42	2		2	LRFN2	6	40400646	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505351	40400646	130714421	5284	28786											
UNC5CL	222643	broad.mit.edu	37	chr6	40996205	40996205	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtcccactcaggtagttCtggatggcggaggcgcagtc	6	10	15	10	2	2	0	1	0	1	0	4	2	3	2	1	5	0	3	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40996205C>T	ENST00000244565.3	-	9	1552	c.1464G>A	c.(1462-1464)caG>caA	p.Q488Q	UNC5CL_ENST00000373164.1_Silent_p.Q488Q|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	488	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCAGGTAGTTCTGGATGGCGG	0.667											OREG0017423	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	40996205	C	T	40996205	2	4	364	1	0	0	0	0	0	0	0	1	17096	912	32	2		2	UNC5CL	6	40996205	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	595559	40996205	130118862	5285	28787											
UNC5CL	222643	broad.mit.edu	37	chr6	40998181	40998181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtctgcgccagtcattgCcggtgatgctgtttggctcc	4	12	12	13	2	2	1	1	1	1	0	3	1	3	1	4	2	3	3	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40998181C>T	ENST00000244565.3	-	8	1368	c.1280G>A	c.(1279-1281)gGc>gAc	p.G427D	UNC5CL_ENST00000373164.1_Missense_Mutation_p.G427D|UNC5CL_ENST00000470102.1_5'UTR	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	427	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCAGTCATTGCCGGTGATGCT	0.577													T	40998181	C	T	40998181	3	4	364	1	0	0	0	0	1	0	0	0	17096	739	26	2	284	2	UNC5CL	6	40998181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1976	40998181	130116886	5286	28788											
UNC5CL	222643	broad.mit.edu	37	chr6	40999435	40999435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacatcctggaaggtgtgCatggtgacaatgatctcatt	10	12	10	9	0	2	2	2	2	1	0	4	3	3	3	1	3	1	1	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:40999435C>T	ENST00000244565.3	-	6	1192	c.1104G>A	c.(1102-1104)atG>atA	p.M368I	UNC5CL_ENST00000373164.1_Missense_Mutation_p.M368I|UNC5CL_ENST00000470102.1_Intron	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	368	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGAAGGTGTGCATGGTGACAA	0.552													T	40999435	C	T	40999435	3	4	364	1	0	0	0	0	1	0	0	0	17096	710	25	2	468	2	UNC5CL	6	40999435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1254	40999435	130115632	5287	28789											
UNC5CL	222643	broad.mit.edu	37	chr6	41000828	41000828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgagcagaatacggccagCtgcagccatttgcgggcttc	8	8	14	11	2	0	2	0	1	0	1	1	2	0	2	2	3	6	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41000828C>T	ENST00000244565.3	-	4	832	c.744G>A	c.(742-744)caG>caA	p.Q248Q	UNC5CL_ENST00000373164.1_Silent_p.Q248Q	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	248	Interaction with RELA and NFKB1.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					ATACGGCCAGCTGCAGCCATT	0.622													T	41000828	C	T	41000828	2	4	364	1	0	0	0	0	0	0	0	1	17096	796	28	2		2	UNC5CL	6	41000828	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1393	41000828	130114239	5288	28790											
APOBEC2	10930	broad.mit.edu	37	chr6	41029259	41029259	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcttcaacaccatcctGccagccttcgacccagccct	7	10	5	19	1	2	0	1	0	1	0	4	1	3	0	6	0	4	1	6	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41029259G>C	ENST00000244669.2	+	2	368	c.324G>C	c.(322-324)ctG>ctC	p.L108L		NM_006789.3	NP_006780.1	Q9Y235	ABEC2_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 2	108					DNA demethylation|mRNA processing		cytidine deaminase activity|RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|prostate(2)|skin(1)	10	Ovarian(28;0.0418)|Colorectal(47;0.196)					ACACCATCCTGCCAGCCTTCG	0.577													C	41029259	G	C	41029259	2	2	364	1	0	0	0	0	0	0	0	1	791	1306	46	4		4	APOBEC2	6	41029259	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28431	41029259	130085808	5289	28791											
TREML2	79865	broad.mit.edu	37	chr6	41165904	41165904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatcccagaggtgttgcGcatgcaccagtatcggcctg	8	8	13	12	2	0	1	0	0	0	1	2	2	1	2	3	3	2	4	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41165904G>A	ENST00000483722.1	-	2	504	c.319C>T	c.(319-321)Cgc>Tgc	p.R107C		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	107	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GAGGTGTTGCGCATGCACCAG	0.627													A	41165904	G	A	41165904	3	1	364	1	0	0	0	0	1	0	0	0	16574	1087	38	1	662	1	TREML2	6	41165904	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136645	41165904	129949163	5290	28792											
MDFI	4188	broad.mit.edu	37	chr6	41617440	41617440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgggcggcaccagaCgggcggggaatggtgccctg	7	4	19	11	3	0	2	0	0	0	2	0	3	0	3	2	6	2	2	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41617440C>T	ENST00000373050.4	+	3	347	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W				Q99750	MDFI_HUMAN	MyoD family inhibitor	115					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			CGGCACCAGACGGGCGGGGAA	0.647													T	41617440	C	T	41617440	3	4	364	1	0	0	0	0	1	0	0	0	9479	527	19	1	353	1	MDFI	6	41617440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451536	41617440	129497627	5291	28793											
MDFI	4188	broad.mit.edu	37	chr6	41621130	41621130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaacatcgtcctggactgCgccacctgtggctcctgcag	6	9	11	15	2	0	0	0	0	0	0	3	1	2	1	4	2	4	3	4	2	1	0	rs138239258		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41621130C>T	ENST00000373050.4	+	4	562	c.375C>T	c.(373-375)tgC>tgT	p.C125C				Q99750	MDFI_HUMAN	MyoD family inhibitor	186					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			TCCTGGACTGCGCCACCTGTG	0.657													T	41621130	C	T	41621130	2	4	364	1	0	0	0	0	0	0	0	1	9479	776	27	1		1	MDFI	6	41621130	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3690	41621130	129493937	5292	28794											
FRS3	10817	broad.mit.edu	37	chr6	41738413	41738413	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggcggtgccatcgtctcGgggcagagctctctgcaggt	4	9	15	13	3	2	1	0	0	2	1	5	1	2	1	2	5	3	3	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41738413G>A	ENST00000373018.3	-	7	1674	c.1423C>T	c.(1423-1425)Cga>Tga	p.R475*	FRS3_ENST00000259748.2_Nonsense_Mutation_p.R475*	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	475					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCATCGTCTCGGGGCAGAGCT	0.632													A	41738413	G	A	41738413	4	1	364	1	0	0	0	0	0	1	0	0	6114	1124	39	1	59	1	FRS3	6	41738413	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117283	41738413	129376654	5293	28795											
FRS3	10817	broad.mit.edu	37	chr6	41739216	41739216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaggggctgcaggcagTggcggcccctgcggtggtca	5	5	19	12	2	1	0	1	0	0	0	1	0	1	0	2	8	2	4	2	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41739216T>C	ENST00000373018.3	-	7	871	c.620A>G	c.(619-621)cAc>cGc	p.H207R	FRS3_ENST00000259748.2_Missense_Mutation_p.H207R	NM_006653.3	NP_006644.1	O43559	FRS3_HUMAN	fibroblast growth factor receptor substrate 3	207					fibroblast growth factor receptor signaling pathway	plasma membrane	fibroblast growth factor receptor binding|insulin receptor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGCAGGCAGTGGCGGCCCCT	0.662													C	41739216	T	C	41739216	3	2	364	1	0	0	0	0	1	0	0	0	6114	1696	59	3	862	3	FRS3	6	41739216	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	803	41739216	129375851	5294	28796											
PRICKLE4	29964	broad.mit.edu	37	chr6	41751912	41751912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccctttgcctggacaccaAccaagcccccaactggactg	9	8	7	17	0	0	0	0	0	0	0	1	2	1	2	6	2	4	0	6	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41751912A>G	ENST00000359201.5	+	3	765	c.176A>G	c.(175-177)aAc>aGc	p.N59S	PRICKLE4_ENST00000394263.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394259.1_Missense_Mutation_p.N19S|PRICKLE4_ENST00000458694.1_Missense_Mutation_p.N59S|PRICKLE4_ENST00000394260.1_Missense_Mutation_p.N19S			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	19	PET.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTGGACACCAACCAAGCCCCC	0.547													G	41751912	A	G	41751912	3	3	364	1	0	0	0	0	1	0	0	0	12575	43	2	3	182	3	PRICKLE4	6	41751912	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12696	41751912	129363155	5295	28797											
USP49	25862	broad.mit.edu	37	chr6	41773651	41773651	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgtgcagttcacggcaGagggaaatgtgctttgaact	10	10	15	6	1	1	2	1	1	0	1	1	3	1	3	0	3	3	4	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773651G>T	ENST00000394253.3	-	3	1400	c.1071C>A	c.(1069-1071)ctC>ctA	p.L357L	USP49_ENST00000373010.1_Silent_p.L357L|USP49_ENST00000297229.2_Silent_p.L357L|USP49_ENST00000373009.3_Silent_p.L357L|USP49_ENST00000373006.1_Silent_p.L357L			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	357					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GTTCACGGCAGAGGGAAATGT	0.602													T	41773651	G	T	41773651	2	4	364	1	0	0	0	0	0	0	0	1	17182	929	33	4		4	USP49	6	41773651	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21739	41773651	129341416	5296	28798											
USP49	25862	broad.mit.edu	37	chr6	41773747	41773747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagaagccctcccgctcGcatgcctcggccctgtcatt	6	8	9	18	3	1	1	1	0	0	1	4	1	2	1	4	1	3	3	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773747G>A	ENST00000394253.3	-	3	1304	c.975C>T	c.(973-975)tgC>tgT	p.C325C	USP49_ENST00000373010.1_Silent_p.C325C|USP49_ENST00000297229.2_Silent_p.C325C|USP49_ENST00000373009.3_Silent_p.C325C|USP49_ENST00000373006.1_Silent_p.C325C			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	325					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCTCCCGCTCGCATGCCTCGG	0.582													A	41773747	G	A	41773747	2	1	364	1	0	0	0	0	0	0	0	1	17182	1079	38	1		1	USP49	6	41773747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96	41773747	129341320	5297	28799											
USP49	25862	broad.mit.edu	37	chr6	41773953	41773953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaggtgttgcccaggtTgcgcaggcccgtgacgcctg	5	8	16	12	3	0	1	0	1	0	0	0	1	0	1	3	3	3	5	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:41773953T>C	ENST00000394253.3	-	3	1098	c.769A>G	c.(769-771)Aac>Gac	p.N257D	USP49_ENST00000373010.1_Missense_Mutation_p.N257D|USP49_ENST00000297229.2_Missense_Mutation_p.N257D|USP49_ENST00000373009.3_Missense_Mutation_p.N257D|USP49_ENST00000373006.1_Missense_Mutation_p.N257D			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	257					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			TTGCCCAGGTTGCGCAGGCCC	0.647													C	41773953	T	C	41773953	3	2	364	1	0	0	0	0	1	0	0	0	17182	1812	63	3	1169	3	USP49	6	41773953	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	206	41773953	129341114	5298	28800											
TRERF1	55809	broad.mit.edu	37	chr6	42224502	42224502	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctcaaacagagagtgcaaAgcaaattcagaattggtccc	15	7	9	10	0	2	2	2	0	0	2	3	3	3	2	2	1	3	2	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42224502A>T	ENST00000541110.1	-	12	3172	c.2604T>A	c.(2602-2604)gcT>gcA	p.A868A	TRERF1_ENST00000340840.2_Silent_p.A765A|TRERF1_ENST00000372922.4_Silent_p.A848A|TRERF1_ENST00000372917.4_Silent_p.A765A|TRERF1_ENST00000354325.2_Silent_p.A765A			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	848	ELM2.|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)			GAGAGTGCAAAGCAAATTCAG	0.418													T	42224502	A	T	42224502	2	4	364	1	0	0	0	0	0	0	0	1	16576	59	3	5		5	TRERF1	6	42224502	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	450549	42224502	128890565	5299	28801											
TRERF1	55809	broad.mit.edu	37	chr6	42236363	42236363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgataatactgaggtatCtgcattgaaccctgccgctg	9	11	11	10	1	1	3	0	3	1	0	1	3	1	3	2	2	4	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42236363C>A	ENST00000541110.1	-	5	1534	c.966G>T	c.(964-966)caG>caT	p.Q322H	TRERF1_ENST00000340840.2_Missense_Mutation_p.Q322H|TRERF1_ENST00000372922.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000372917.4_Missense_Mutation_p.Q322H|TRERF1_ENST00000354325.2_Missense_Mutation_p.Q322H			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	322	Gln-rich.				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)			ACTGAGGTATCTGCATTGAAC	0.587													A	42236363	C	A	42236363	3	1	364	1	0	0	0	0	1	0	0	0	16576	912	32	4	2692	4	TRERF1	6	42236363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11861	42236363	128878704	5300	28802											
CNPY3	10695	broad.mit.edu	37	chr6	42902286	42902286	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaggaggtgattggcacGggctatggcatcctggacca	10	7	14	10	1	0	1	0	1	0	0	1	3	1	3	3	6	0	3	3	6	2	2	rs75557671	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42902286G>A	ENST00000372836.4	+	2	596	c.225G>A	c.(223-225)acG>acA	p.T75T	CNPY3_ENST00000394142.3_Intron	NM_006586.3	NP_006577.2	Q9BT09	CNPY3_HUMAN	canopy FGF signaling regulator 3	75	Saposin B-type.				innate immune response	endoplasmic reticulum				central_nervous_system(1)|endometrium(1)|lung(3)|ovary(1)	6	Colorectal(47;0.196)		all cancers(41;0.000954)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|OV - Ovarian serous cystadenocarcinoma(102;0.0218)|Kidney(15;0.0388)			TGATTGGCACGGGCTATGGCA	0.562													A	42902286	G	A	42902286	2	1	364	1	0	0	0	0	0	0	0	1	3660	1103	39	1		1	CNPY3	6	42902286	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	665923	42902286	128212781	5301	28803											
PEX6	5190	broad.mit.edu	37	chr6	42934528	42934528	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcctcttaccctgagttCttgatcctggtgcaggctgc	5	13	10	13	1	2	2	0	2	2	0	4	2	4	2	3	2	3	3	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42934528C>A	ENST00000304611.8	-	9	2022	c.1953G>T	c.(1951-1953)aaG>aaT	p.K651N	PEX6_ENST00000244546.4_Missense_Mutation_p.K651N	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	651					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			ACCCTGAGTTCTTGATCCTGG	0.572													A	42934528	C	A	42934528	3	1	364	1	0	0	0	0	1	0	0	0	11827	912	32	4	1025	4	PEX6	6	42934528	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32242	42934528	128180539	5302	28804											
PEX6	5190	broad.mit.edu	37	chr6	42936095	42936095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgggcatcctcacccaGcccatcacggtcccggccca	8	4	8	21	3	2	0	2	0	0	0	4	0	4	0	5	3	1	1	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42936095G>A	ENST00000304611.8	-	7	1690	c.1621C>T	c.(1621-1623)Ctg>Ttg	p.L541L	PEX6_ENST00000244546.4_Silent_p.L541L	NM_000287.3	NP_000278.3	Q13608	PEX6_HUMAN	peroxisomal biogenesis factor 6	541					protein import into peroxisome matrix, translocation|protein stabilization	cytosol|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(3)	15			all cancers(41;0.00235)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0562)			TCCTCACCCAGCCCATCACGG	0.622													A	42936095	G	A	42936095	2	1	364	1	0	0	0	0	0	0	0	1	11827	962	34	2		2	PEX6	6	42936095	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1567	42936095	128178972	5303	28805											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975016	42975016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagaggaagatgagcccaCcctggaagctgcttggccac	10	5	12	14	0	0	3	0	1	0	2	0	5	0	5	4	3	3	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975016C>T	ENST00000485511.1	+	5	784	c.605C>T	c.(604-606)aCc>aTc	p.T202I	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.T194I|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.T170I|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.T96I	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	202					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GATGAGCCCACCCTGGAAGCT	0.612													T	42975016	C	T	42975016	3	4	364	1	0	0	0	0	1	0	0	0	12477	507	18	2	623	2	PPP2R5D	6	42975016	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38921	42975016	128140051	5304	28806											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975803	42975803	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcaaccacatcttctacaGgtgaggccaggagcccaggc	11	6	11	13	0	3	1	1	1	2	0	3	3	3	2	3	4	3	0	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42975803G>T	ENST00000485511.1	+	7	1036	c.857G>T	c.(856-858)aGg>aTg	p.R286M	PPP2R5D_ENST00000472118.1_Splice_Site_p.R278M|PPP2R5D_ENST00000394110.3_Splice_Site_p.R254M|PPP2R5D_ENST00000461010.1_Splice_Site_p.R180M	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	286					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			ATCTTCTACAGGTGAGGCCAG	0.557													T	42975803	G	T	42975803	5	4	364	1	0	0	0	0	0	0	1	0	12477	1014	35	4	883	4	PPP2R5D	6	42975803	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	787	42975803	128139264	5305	28807											
MEA1	4201	broad.mit.edu	37	chr6	42980865	42980865	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctacctggattcgatcCtggatgtcagcaactacatc	10	10	7	14	1	1	0	1	0	0	0	4	3	2	2	3	2	4	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42980865C>A	ENST00000244711.3	-	2	445	c.291G>T	c.(289-291)caG>caT	p.Q97H		NM_014623.2	NP_055438.1	Q16626	MEA1_HUMAN	male-enhanced antigen 1	97					cell differentiation|male gonad development|spermatogenesis		protein binding			central_nervous_system(1)|large_intestine(3)|lung(1)|skin(1)	6			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGATTCGATCCTGGATGTCAG	0.577													A	42980865	C	A	42980865	3	1	364	1	0	0	0	0	1	0	0	0	9495	680	24	4	278	4	MEA1	6	42980865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5062	42980865	128134202	5306	28808											
KLHDC3	116138	broad.mit.edu	37	chr6	42986283	42986283	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgaggggcgccggaGccactcggcctgtgagtgtt	4	8	17	12	3	0	2	0	2	0	0	1	3	0	3	4	4	2	2	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:42986283G>T	ENST00000326974.4	+	6	917	c.722G>T	c.(721-723)aGc>aTc	p.S241I	KLHDC3_ENST00000332245.8_Missense_Mutation_p.S182I|KLHDC3_ENST00000244670.8_Missense_Mutation_p.S107I	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	241					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGGCGCCGGAGCCACTCGGCC	0.557													T	42986283	G	T	42986283	3	4	364	1	0	0	0	0	1	0	0	0	8415	971	34	4	740	4	KLHDC3	6	42986283	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5418	42986283	128128784	5307	28809											
CUL7	9820	broad.mit.edu	37	chr6	43006088	43006088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagttcagaagattccGtctcttctccaagttctggc	8	12	10	11	1	4	2	1	0	3	2	7	3	5	2	2	2	0	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43006088G>A	ENST00000535468.1	-	25	5028	c.4942C>T	c.(4942-4944)Cgg>Tgg	p.R1648W	CUL7_ENST00000265348.3_Missense_Mutation_p.R1564W	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1564					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AGAAGATTCCGTCTCTTCTCC	0.572													A	43006088	G	A	43006088	3	1	364	1	0	0	0	0	1	0	0	0	4093	1144	40	1	414	1	CUL7	6	43006088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19805	43006088	128108979	5308	28810											
CUL7	9820	broad.mit.edu	37	chr6	43010902	43010902	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaaggagctccagtcgtgGcttctgtttctgccttctgt	4	14	11	12	1	3	0	0	0	3	0	5	1	4	1	3	2	2	3	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43010902G>A	ENST00000535468.1	-	18	3710	c.3624C>T	c.(3622-3624)agC>agT	p.S1208S	CUL7_ENST00000265348.3_Silent_p.S1124S	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1124					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TCCAGTCGTGGCTTCTGTTTC	0.617													A	43010902	G	A	43010902	2	1	364	1	0	0	0	0	0	0	0	1	4093	1194	42	2		2	CUL7	6	43010902	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4814	43010902	128104165	5309	28811											
CUL7	9820	broad.mit.edu	37	chr6	43011309	43011309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctgggggttgaagacagCttcctgacactccaggtact	8	10	12	11	0	1	3	0	2	1	1	3	3	3	3	2	3	2	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43011309C>T	ENST00000535468.1	-	17	3570	c.3484G>A	c.(3484-3486)Gct>Act	p.A1162T	CUL7_ENST00000265348.3_Missense_Mutation_p.A1078T	NM_001168370.1|NM_014780.4	NP_001161842.1|NP_055595.2	Q14999	CUL7_HUMAN	cullin 7	1078					interspecies interaction between organisms|ubiquitin-dependent protein catabolic process|vasculogenesis	anaphase-promoting complex|mitochondrion	ubiquitin protein ligase binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(8)|liver(1)|lung(11)|ovary(3)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	49			all cancers(41;0.00231)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTGAAGACAGCTTCCTGACAC	0.607													T	43011309	C	T	43011309	3	4	364	1	0	0	0	0	1	0	0	0	4093	797	28	2	1904	2	CUL7	6	43011309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	407	43011309	128103758	5310	28812											
MRPL2	51069	broad.mit.edu	37	chr6	43023921	43023921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcccccagcaaccagagCtatgtctgctgacctaatca	10	8	8	15	0	2	2	1	1	1	1	2	2	2	2	4	0	5	4	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43023921C>T	ENST00000388752.3	-	4	842	c.418G>A	c.(418-420)Gct>Act	p.A140T	MRPL2_ENST00000230413.5_Missense_Mutation_p.A140T|MRPL2_ENST00000489623.1_Intron	NM_015950.3	NP_057034.2	Q5T653	RM02_HUMAN	mitochondrial ribosomal protein L2	140					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(2)	9		Ovarian(999;0.0014)	Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|all cancers(41;0.00708)|OV - Ovarian serous cystadenocarcinoma(102;0.0442)	BRCA - Breast invasive adenocarcinoma(397;0.0026)		GCAACCAGAGCTATGTCTGCT	0.522													T	43023921	C	T	43023921	3	4	364	1	0	0	0	0	1	0	0	0	9861	797	28	2	515	2	MRPL2	6	43023921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12612	43023921	128091146	5311	28813											
PTK7	5754	broad.mit.edu	37	chr6	43106885	43106885	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctgcaggactcacggttCgaggtcttcaagaatgggac	9	9	14	9	2	3	1	2	0	1	1	4	4	3	3	0	4	2	3	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43106885C>T	ENST00000230419.4	+	9	1595	c.1374C>T	c.(1372-1374)ttC>ttT	p.F458F	PTK7_ENST00000349241.2_Intron|PTK7_ENST00000352931.2_Silent_p.F458F|PTK7_ENST00000481273.1_Silent_p.F466F|PTK7_ENST00000345201.2_Silent_p.F458F	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	458	Ig-like C2-type 5.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACTCACGGTTCGAGGTCTTCA	0.592													T	43106885	C	T	43106885	2	4	364	1	0	0	0	0	0	0	0	1	12851	883	31	1		1	PTK7	6	43106885	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82964	43106885	128008182	5312	28814											
SRF	6722	broad.mit.edu	37	chr6	43143694	43143694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagctgcctaccagcttcaCcctcatgcctggtgagtcac	7	9	9	16	0	3	1	3	1	0	0	3	1	3	1	4	1	5	3	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43143694C>T	ENST00000265354.4	+	3	1389	c.1031C>T	c.(1030-1032)aCc>aTc	p.T344I	SRF_ENST00000457278.2_Missense_Mutation_p.T140I	NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	344					angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACCAGCTTCACCCTCATGCCT	0.587													T	43143694	C	T	43143694	3	4	364	1	0	0	0	0	1	0	0	0	15239	507	18	2	1041	2	SRF	6	43143694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36809	43143694	127971373	5313	28815											
CUL9	23113	broad.mit.edu	37	chr6	43153263	43153263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcacatggattttgacaGtcgctatacattgctggagc	10	11	11	9	1	0	1	0	1	0	0	1	3	0	3	0	2	4	4	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43153263G>A	ENST00000252050.4	+	3	749	c.665G>A	c.(664-666)aGt>aAt	p.S222N	CUL9_ENST00000372647.2_Missense_Mutation_p.S222N|CUL9_ENST00000354495.3_Missense_Mutation_p.S222N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	222					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						GATTTTGACAGTCGCTATACA	0.507													A	43153263	G	A	43153263	3	1	364	1	0	0	0	0	1	0	0	0	4094	1029	36	2	671	2	CUL9	6	43153263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9569	43153263	127961804	5314	28816											
CUL9	23113	broad.mit.edu	37	chr6	43168246	43168246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccttctttgatgtgttcCtcaggcatctctgccagggt	4	15	9	13	0	3	1	1	1	2	0	6	1	5	1	4	2	1	2	4	2	0	3	rs148664624	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43168246C>T	ENST00000252050.4	+	15	3541	c.3457C>T	c.(3457-3459)Ctc>Ttc	p.L1153F	CUL9_ENST00000372647.2_Missense_Mutation_p.L1153F|CUL9_ENST00000354495.3_Missense_Mutation_p.L1043F	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1153	DOC.				ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TGATGTGTTCCTCAGGCATCT	0.542													T	43168246	C	T	43168246	3	4	364	1	0	0	0	0	1	0	0	0	4094	681	24	2	3511	2	CUL9	6	43168246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14983	43168246	127946821	5315	28817											
CUL9	23113	broad.mit.edu	37	chr6	43172550	43172550	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtgcttccaagcagcagCctgaggaacataacccagtg	12	6	10	13	0	0	1	0	1	0	0	1	2	1	2	4	1	6	3	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43172550C>T	ENST00000252050.4	+	22	4488	c.4404C>T	c.(4402-4404)agC>agT	p.S1468S	CUL9_ENST00000372647.2_Silent_p.S1468S|CUL9_ENST00000354495.3_Silent_p.S1358S	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1468					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CAAGCAGCAGCCTGAGGAACA	0.592													T	43172550	C	T	43172550	2	4	364	1	0	0	0	0	0	0	0	1	4094	738	26	2		2	CUL9	6	43172550	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4304	43172550	127942517	5316	28818											
CUL9	23113	broad.mit.edu	37	chr6	43181530	43181530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccccaggcatacctgaaCgtagagaaggatgaaggccg	12	5	12	12	2	0	3	0	2	0	1	1	5	1	4	5	3	2	2	5	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43181530C>T	ENST00000252050.4	+	29	5652	c.5568C>T	c.(5566-5568)aaC>aaT	p.N1856N	CUL9_ENST00000502937.1_3'UTR|CUL9_ENST00000372647.2_Intron|CUL9_ENST00000354495.3_Silent_p.N1746N	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1856				Missing (in Ref. 3; CAH18696).	ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATACCTGAACGTAGAGAAGG	0.587													T	43181530	C	T	43181530	2	4	364	1	0	0	0	0	0	0	0	1	4094	535	19	1		1	CUL9	6	43181530	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8980	43181530	127933537	5317	28819											
CUL9	23113	broad.mit.edu	37	chr6	43190124	43190124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcactttccatcaccaggCgcgggtgagtcgggaggaaa	9	7	15	10	3	1	1	1	1	0	0	3	3	2	3	2	4	1	1	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43190124C>T	ENST00000252050.4	+	36	7001	c.6917C>T	c.(6916-6918)gCg>gTg	p.A2306V	CUL9_ENST00000372647.2_Missense_Mutation_p.A2278V|CUL9_ENST00000354495.3_Missense_Mutation_p.A2196V|RP3-330M21.5_ENST00000500590.1_RNA	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	2306					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						CATCACCAGGCGCGGGTGAGT	0.602													T	43190124	C	T	43190124	3	4	364	1	0	0	0	0	1	0	0	0	4094	768	27	1	7055	1	CUL9	6	43190124	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8594	43190124	127924943	5318	28820											
TTBK1	84630	broad.mit.edu	37	chr6	43223591	43223591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacttcaccaagcccgactaCcaggtgggagcctgctaccc	9	7	9	16	1	1	0	1	0	0	0	1	2	1	1	5	2	6	1	5	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43223591C>T	ENST00000259750.4	+	9	941	c.858C>T	c.(856-858)taC>taT	p.Y286Y	TTBK1_ENST00000304139.5_Silent_p.Y235Y	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	286	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			AGCCCGACTACCAGGTGGGAG	0.617													T	43223591	C	T	43223591	2	4	364	1	0	0	0	0	0	0	0	1	16778	518	18	2		2	TTBK1	6	43223591	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33467	43223591	127891476	5319	28821											
TTBK1	84630	broad.mit.edu	37	chr6	43251565	43251565	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccagccccggtgtccccGctggagccaagccctgagaa	7	4	14	16	2	0	1	0	1	0	1	1	3	1	2	7	3	3	1	7	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43251565G>A	ENST00000259750.4	+	14	3170	c.3087G>A	c.(3085-3087)ccG>ccA	p.P1029P		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	1029						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CGGTGTCCCCGCTGGAGCCAA	0.677													A	43251565	G	A	43251565	2	1	364	1	0	0	0	0	0	0	0	1	16778	1074	38	1		1	TTBK1	6	43251565	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27974	43251565	127863502	5320	28822											
SLC22A7	10864	broad.mit.edu	37	chr6	43269964	43269964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgaacttctcctattacgGcctgagtctggatgtgtcgg	7	13	12	9	2	2	2	0	2	2	0	4	3	2	3	2	3	2	0	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43269964G>A	ENST00000372585.5	+	8	1183	c.1088G>A	c.(1087-1089)gGc>gAc	p.G363D	SLC22A7_ENST00000372574.3_Missense_Mutation_p.G361D|SLC22A7_ENST00000372589.3_Missense_Mutation_p.G361D	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	363						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTATTACGGCCTGAGTCTG	0.567													A	43269964	G	A	43269964	3	1	364	1	0	0	0	0	1	0	0	0	14553	1203	42	2	1114	2	SLC22A7	6	43269964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18399	43269964	127845103	5321	28823											
SLC22A7	10864	broad.mit.edu	37	chr6	43270068	43270068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggtctacttgtcggtgCgctacgcaggacgccgcctc	4	10	13	14	5	1	0	0	0	1	0	3	1	1	1	2	3	4	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43270068C>T	ENST00000372585.5	+	8	1287	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	SLC22A7_ENST00000372574.3_Missense_Mutation_p.R396C|SLC22A7_ENST00000372589.3_Missense_Mutation_p.R396C	NM_153320.2	NP_696961.2	Q9Y694	S22A7_HUMAN	solute carrier family 22 (organic anion transporter), member 7	398						basolateral plasma membrane|integral to plasma membrane|membrane fraction	anion:anion antiporter activity|sodium-independent organic anion transmembrane transporter activity	p.R398C(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(1)|skin(3)	26			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			CTTGTCGGTGCGCTACGCAGG	0.637													T	43270068	C	T	43270068	3	4	364	1	0	0	0	0	1	0	0	0	14553	768	27	1	1218	1	SLC22A7	6	43270068	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104	43270068	127844999	5322	28824											
ZNF318	24149	broad.mit.edu	37	chr6	43306331	43306331	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcatctatgctgtggggtCcaatgctggtacttactccc	8	13	9	11	0	2	0	1	0	1	0	4	0	4	0	2	3	4	3	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43306331C>A	ENST00000361428.2	-	10	5482	c.5405G>T	c.(5404-5406)gGa>gTa	p.G1802V	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1802					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GCTGTGGGGTCCAATGCTGGT	0.423													A	43306331	C	A	43306331	3	1	364	1	0	0	0	0	1	0	0	0	17937	855	30	4	1438	4	ZNF318	6	43306331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36263	43306331	127808736	5323	28825											
ZNF318	24149	broad.mit.edu	37	chr6	43307115	43307115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgaacacacttgagagggGtggtggaggacgtactaaca	13	7	14	7	1	0	2	0	2	0	1	0	5	0	4	0	5	3	1	0	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43307115G>A	ENST00000361428.2	-	10	4698	c.4621C>T	c.(4621-4623)Ccc>Tcc	p.P1541S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1541	Pro-rich.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTTGAGAGGGGTGGTGGAGGA	0.488													A	43307115	G	A	43307115	3	1	364	1	0	0	0	0	1	0	0	0	17937	1261	44	2	2222	2	ZNF318	6	43307115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784	43307115	127807952	5324	28826											
ZNF318	24149	broad.mit.edu	37	chr6	43310568	43310568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgactgggggctttcgGcaggcttggggctcttagta	4	12	17	8	1	1	1	0	1	1	0	2	1	1	1	0	7	0	6	0	7	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43310568G>A	ENST00000361428.2	-	7	3199	c.3122C>T	c.(3121-3123)gCc>gTc	p.A1041V	ZNF318_ENST00000318149.3_Missense_Mutation_p.A1041V	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1041					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			GGGGCTTTCGGCAGGCTTGGG	0.458													A	43310568	G	A	43310568	3	1	364	1	0	0	0	0	1	0	0	0	17937	1203	42	2	3733	2	ZNF318	6	43310568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3453	43310568	127804499	5325	28827											
ZNF318	24149	broad.mit.edu	37	chr6	43316061	43316061	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atggaaaaattgagttgttaCcttgttggaggaggagtttg	11	14	14	2	0	0	1	0	1	0	0	0	5	0	5	1	4	1	4	1	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43316061C>T	ENST00000361428.2	-	6	3150		c.e6+1		ZNF318_ENST00000318149.3_Splice_Site	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318						meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TGAGTTGTTACCTTGTTGGAG	0.368													T	43316061	C	T	43316061	5	4	364	1	0	0	0	0	0	0	1	0	17937	521	18	2	3786	2	ZNF318	6	43316061	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5493	43316061	127799006	5326	28828											
ZNF318	24149	broad.mit.edu	37	chr6	43322515	43322515	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgcaggaattgagcctcGcagagactctttctgcttag	8	10	12	11	2	2	2	0	1	2	1	3	4	2	3	2	2	2	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43322515G>A	ENST00000361428.2	-	4	2634	c.2557C>T	c.(2557-2559)Cga>Tga	p.R853*	ZNF318_ENST00000318149.3_Nonsense_Mutation_p.R853*	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	853					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			ATTGAGCCTCGCAGAGACTCT	0.488													A	43322515	G	A	43322515	4	1	364	1	0	0	0	0	0	1	0	0	17937	1095	38	1	4310	1	ZNF318	6	43322515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6454	43322515	127792552	5327	28829											
ZNF318	24149	broad.mit.edu	37	chr6	43323412	43323412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actctcagagctcccaagggGctttggtacggattctgcct	7	11	11	12	1	2	1	1	0	2	1	4	2	3	2	2	4	3	3	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43323412G>A	ENST00000361428.2	-	4	1737	c.1660C>T	c.(1660-1662)Ccc>Tcc	p.P554S	ZNF318_ENST00000318149.3_Missense_Mutation_p.P554S	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	554					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCCCAAGGGGCTTTGGTACG	0.478													A	43323412	G	A	43323412	3	1	364	1	0	0	0	0	1	0	0	0	17937	1203	42	2	5207	2	ZNF318	6	43323412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	897	43323412	127791655	5328	28830											
ZNF318	24149	broad.mit.edu	37	chr6	43325153	43325153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggcttcttctacgctgtCgatagttgcgagttcctgat	5	16	11	9	3	2	1	0	1	2	0	4	3	3	1	1	1	2	4	1	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325153C>T	ENST00000361428.2	-	3	976	c.899G>A	c.(898-900)cGa>cAa	p.R300Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R300Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	300					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCTACGCTGTCGATAGTTGCG	0.517													T	43325153	C	T	43325153	3	4	364	1	0	0	0	0	1	0	0	0	17937	884	31	1	5972	1	ZNF318	6	43325153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1741	43325153	127789914	5329	28831											
ZNF318	24149	broad.mit.edu	37	chr6	43325297	43325297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagtttttctcgattcCgttctgttccccgcaacagc	5	16	7	13	3	2	1	0	1	2	0	5	2	4	1	3	0	2	4	3	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43325297C>T	ENST00000361428.2	-	3	832	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	ZNF318_ENST00000318149.3_Missense_Mutation_p.R252Q	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	252					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TTCTCGATTCCGTTCTGTTCC	0.453													T	43325297	C	T	43325297	3	4	364	1	0	0	0	0	1	0	0	0	17937	652	23	1	6116	1	ZNF318	6	43325297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144	43325297	127789770	5330	28832											
ABCC10	89845	broad.mit.edu	37	chr6	43400140	43400140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttggccctggtagcctTgctgccagctccagccctag	4	9	12	16	0	0	0	0	0	0	0	1	0	1	0	6	3	5	3	6	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400140T>C	ENST00000244533.3	+	1	652	c.293T>C	c.(292-294)tTg>tCg	p.L98S	ABCC10_ENST00000372530.4_Missense_Mutation_p.L141S|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	141						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGTAGCCTTGCTGCCAGCT	0.657													C	43400140	T	C	43400140	3	2	364	1	0	0	0	0	1	0	0	0	50	1821	63	3	295	3	ABCC10	6	43400140	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74843	43400140	127714927	5331	28833											
ABCC10	89845	broad.mit.edu	37	chr6	43400775	43400775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtatataaggtaacaCttcaggcacggggggctgtg	11	9	15	6	1	1	1	1	1	0	0	1	1	1	1	0	6	1	4	0	6	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43400775C>A	ENST00000244533.3	+	1	1287	c.928C>A	c.(928-930)Ctt>Att	p.L310I	ABCC10_ENST00000372530.4_Missense_Mutation_p.L353I|ABCC10_ENST00000443426.2_Intron	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	353	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TAAGGTAACACTTCAGGCACG	0.592													A	43400775	C	A	43400775	3	1	364	1	0	0	0	0	1	0	0	0	50	565	20	4	930	4	ABCC10	6	43400775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	635	43400775	127714292	5332	28834											
ABCC10	89845	broad.mit.edu	37	chr6	43410717	43410717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtctccataggaaaaggagCtctatctcctcgatgaccct	10	10	8	13	2	3	1	0	1	3	0	6	4	3	3	3	2	1	1	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43410717C>A	ENST00000244533.3	+	8	2511	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	ABCC10_ENST00000372530.4_Missense_Mutation_p.L746I	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	746	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGAAAAGGAGCTCTATCTCCT	0.562													A	43410717	C	A	43410717	3	1	364	1	0	0	0	0	1	0	0	0	50	797	28	4	2182	4	ABCC10	6	43410717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9942	43410717	127704350	5333	28835											
ABCC10	89845	broad.mit.edu	37	chr6	43415025	43415025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttatgccctgtccctgaCgggcctgctctcgggcctgg	2	11	13	15	2	2	1	0	1	2	0	4	1	3	1	4	3	2	1	4	3	1	1	rs144841064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43415025C>T	ENST00000244533.3	+	15	3859	c.3500C>T	c.(3499-3501)aCg>aTg	p.T1167M	ABCC10_ENST00000372530.4_Missense_Mutation_p.T1195M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1195	ABC transmembrane type-1 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGTCCCTGACGGGCCTGCTC	0.627													T	43415025	C	T	43415025	3	4	364	1	0	0	0	0	1	0	0	0	50	536	19	1	3558	1	ABCC10	6	43415025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4308	43415025	127700042	5334	28836											
ABCC10	89845	broad.mit.edu	37	chr6	43416862	43416862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggtggtctggatggtgagCtgggtgaggggggccggagc	5	7	23	6	1	1	2	0	2	1	0	1	4	1	4	1	9	2	1	1	9	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43416862C>A	ENST00000244533.3	+	18	4398	c.4039C>A	c.(4039-4041)Ctg>Atg	p.L1347M	ABCC10_ENST00000372530.4_Missense_Mutation_p.L1375M	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1375	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GGATGGTGAGCTGGGTGAGGG	0.587													A	43416862	C	A	43416862	3	1	364	1	0	0	0	0	1	0	0	0	50	796	28	4	4109	4	ABCC10	6	43416862	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1837	43416862	127698205	5335	28837											
TJAP1	93643	broad.mit.edu	37	chr6	43472904	43472904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacccactgtatcctggcCgcagggtaatagagttctct	9	10	9	13	1	1	1	0	0	1	1	3	1	2	1	3	2	0	4	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43472904C>T	ENST00000372444.2	+	11	1388	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	TJAP1_ENST00000259751.1_Missense_Mutation_p.R319C|TJAP1_ENST00000483640.1_3'UTR|TJAP1_ENST00000438588.2_Missense_Mutation_p.R329C|TJAP1_ENST00000372445.5_Missense_Mutation_p.R329C|TJAP1_ENST00000436109.2_Missense_Mutation_p.R319C|TJAP1_ENST00000372449.1_Missense_Mutation_p.R329C|TJAP1_ENST00000372452.1_Missense_Mutation_p.R319C	NM_001146018.1	NP_001139490.1	Q5JTD0	TJAP1_HUMAN	tight junction associated protein 1 (peripheral)	329	Pro-rich.					Golgi apparatus|tight junction	protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|urinary_tract(2)	21	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0122)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTATCCTGGCCGCAGGGTAAT	0.617													T	43472904	C	T	43472904	3	4	364	1	0	0	0	0	1	0	0	0	16028	652	23	1	1015	1	TJAP1	6	43472904	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56042	43472904	127642163	5336	28838											
POLR1C	9533	broad.mit.edu	37	chr6	43484913	43484913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggagtttggggttcgCaatgtaagccttgtggcctt	5	13	16	7	1	0	0	0	0	0	0	1	1	0	1	2	5	1	4	2	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43484913C>T	ENST00000372389.3	+	1	154	c.66C>T	c.(64-66)cgC>cgT	p.R22R	POLR1C_ENST00000372344.2_Silent_p.R22R|POLR1C_ENST00000304004.3_Silent_p.R22R	NM_203290.2	NP_976035.1	O15160	RPAC1_HUMAN	polymerase (RNA) I polypeptide C, 30kDa	22					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			kidney(1)|large_intestine(2)|lung(1)|prostate(1)	5	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|all cancers(41;0.00511)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			TTGGGGTTCGCAATGTAAGCC	0.592													T	43484913	C	T	43484913	2	4	364	1	0	0	0	0	0	0	0	1	12288	697	25	2		2	POLR1C	6	43484913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12009	43484913	127630154	5337	28839											
POLH	5429	broad.mit.edu	37	chr6	43573029	43573029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattagcccaggaactagaGgagagactgactaaagaccg	16	5	11	9	1	0	4	0	1	0	3	0	7	0	6	2	2	2	0	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43573029G>T	ENST00000372236.4	+	9	1342	c.1047G>T	c.(1045-1047)gaG>gaT	p.E349D	POLH_ENST00000372226.1_Missense_Mutation_p.E349D|POLH_ENST00000535400.1_Missense_Mutation_p.E287D	NM_006502.2	NP_006493.1	Q9Y253	POLH_HUMAN	polymerase (DNA directed), eta	349					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA repair|response to UV-C	cytoplasm|nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_cancers(18;1.89e-05)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000753)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			AGGAACTAGAGGAGAGACTGA	0.373								DNA polymerases (catalytic subunits)	Xeroderma Pigmentosum				T	43573029	G	T	43573029	3	4	364	1	0	0	0	0	1	0	0	0	12279	991	35	4	1077	4	POLH	6	43573029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88116	43573029	127542038	5338	28840											
GTPBP2	54676	broad.mit.edu	37	chr6	43589768	43589768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttttccaccactgccGtctgacgtacgttgcccacg	6	11	9	15	4	2	1	0	1	2	0	3	2	3	2	4	1	3	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589768G>A	ENST00000307126.5	-	11	1603	c.1604C>T	c.(1603-1605)aCg>aTg	p.T535M	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.T447M	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	535							GTP binding|GTPase activity	p.T535M(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CACCACTGCCGTCTGACGTAC	0.552													A	43589768	G	A	43589768	3	1	364	1	0	0	0	0	1	0	0	0	6935	1145	40	1	212	1	GTPBP2	6	43589768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16739	43589768	127525299	5339	28841											
GTPBP2	54676	broad.mit.edu	37	chr6	43589883	43589883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagatggtaggattcatctCcgggctcaccatcaccatgc	9	9	10	13	1	4	1	3	0	1	1	5	2	4	2	3	3	1	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43589883C>T	ENST00000307126.5	-	11	1488	c.1489G>A	c.(1489-1491)Gag>Aag	p.E497K	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.E409K	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	497							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			GGATTCATCTCCGGGCTCACC	0.582													T	43589883	C	T	43589883	3	4	364	1	0	0	0	0	1	0	0	0	6935	864	30	2	327	2	GTPBP2	6	43589883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115	43589883	127525184	5340	28842											
GTPBP2	54676	broad.mit.edu	37	chr6	43590374	43590374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcacccacctcaccttgCgaagcagtgcacggtcaaag	11	6	9	15	2	2	0	2	0	0	0	2	1	2	0	3	1	4	3	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43590374C>T	ENST00000307126.5	-	10	1462	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	GTPBP2_ENST00000476510.1_5'UTR|GTPBP2_ENST00000307114.7_Missense_Mutation_p.R400H	NM_019096.3	NP_061969.3	Q9BX10	GTPB2_HUMAN	GTP binding protein 2	488							GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(18;9.36e-06)|Lung NSC(15;0.00161)|all_lung(25;0.004)		all cancers(41;0.000501)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0826)|OV - Ovarian serous cystadenocarcinoma(102;0.167)			CCTCACCTTGCGAAGCAGTGC	0.572													T	43590374	C	T	43590374	3	4	364	1	0	0	0	0	1	0	0	0	6935	768	27	1	357	1	GTPBP2	6	43590374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	491	43590374	127524693	5341	28843											
VEGFA	7422	broad.mit.edu	37	chr6	43748509	43748509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggggcaaaaacgaaagCgcaagaaatcccggtataag	19	3	12	7	3	0	1	0	0	0	1	1	3	1	1	1	3	2	3	1	3	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43748509C>T	ENST00000425836.2	+	6	1003	c.1003C>T	c.(1003-1005)Cgc>Tgc	p.R335C	VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000413642.3_Missense_Mutation_p.R335C|VEGFA_ENST00000518824.1_Intron|VEGFA_ENST00000482630.2_Intron|VEGFA_ENST00000520948.1_Missense_Mutation_p.R155C|VEGFA_ENST00000372055.4_Missense_Mutation_p.R335C|VEGFA_ENST00000372067.3_Intron|VEGFA_ENST00000523873.1_Missense_Mutation_p.R155C|VEGFA_ENST00000523125.1_Intron|VEGFA_ENST00000523950.1_Intron|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000417285.2_Intron|VEGFA_ENST00000518689.1_Missense_Mutation_p.R155C|VEGFA_ENST00000230480.6_Intron|VEGFA_ENST00000324450.6_Intron			P15692	VEGFA_HUMAN	vascular endothelial growth factor A	155					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	AAAACGAAAGCGCAAGAAATC	0.547													T	43748509	C	T	43748509	3	4	364	1	0	0	0	0	1	0	0	0	17252	768	27	1	1025	1	VEGFA	6	43748509	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158135	43748509	127366558	5342	28844											
VEGFA	7422	broad.mit.edu	37	chr6	43749754	43749754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaagatccgcagacgtgtAaatgttcctgcaaaaacaca	16	8	7	10	2	0	2	0	0	0	2	2	2	2	2	2	0	3	4	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:43749754A>G	ENST00000372067.3	+	6	1518	c.1024A>G	c.(1024-1026)Aaa>Gaa	p.K342E	VEGFA_ENST00000372064.4_Intron|VEGFA_ENST00000413642.3_Missense_Mutation_p.K360E|VEGFA_ENST00000518824.1_Missense_Mutation_p.K162E|VEGFA_ENST00000482630.2_Missense_Mutation_p.K342E|VEGFA_ENST00000520948.1_Missense_Mutation_p.K186E|VEGFA_ENST00000372055.4_Missense_Mutation_p.K383E|VEGFA_ENST00000425836.2_Missense_Mutation_p.K366E|VEGFA_ENST00000523873.1_Missense_Mutation_p.K203E|VEGFA_ENST00000523125.1_Missense_Mutation_p.K162E|VEGFA_ENST00000523950.1_Missense_Mutation_p.K162E|VEGFA_ENST00000372077.4_Intron|VEGFA_ENST00000457104.2_Intron|VEGFA_ENST00000417285.2_Missense_Mutation_p.K342E|VEGFA_ENST00000518689.1_Missense_Mutation_p.K180E|VEGFA_ENST00000230480.6_Missense_Mutation_p.K134E|VEGFA_ENST00000324450.6_Intron	NM_001025366.2|NM_001025367.2|NM_001025368.2|NM_001025369.2|NM_001033756.2|NM_001171623.1|NM_001171624.1|NM_001171625.1|NM_001171626.1|NM_001171627.1|NM_001171629.1|NM_003376.5	NP_001020537.2|NP_001020538.2|NP_001020539|NP_001020540.2|NP_001028928.1|NP_001165094.1|NP_001165095.1|NP_001165096.1|NP_001165097.1|NP_001165098.1|NP_001165100.1|NP_003367.4	P15692	VEGFA_HUMAN	vascular endothelial growth factor A	203					basophil chemotaxis|cellular response to hypoxia|induction of positive chemotaxis|platelet activation|platelet degranulation|platelet-derived growth factor receptor signaling pathway|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of cell adhesion|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of leukocyte migration|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular permeability|regulation of cell shape|vascular endothelial growth factor receptor signaling pathway|vasculogenesis	cell surface|extracellular space|membrane|platelet alpha granule lumen	cell surface binding|chemoattractant activity|cytokine activity|fibronectin binding|growth factor activity|heparin binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity|vascular endothelial growth factor receptor 1 binding|vascular endothelial growth factor receptor 2 binding|vascular endothelial growth factor receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	9	all_cancers(18;5.46e-07)|all_epithelial(2;5.96e-08)|Lung NSC(15;0.000157)|all_lung(25;0.000486)|Hepatocellular(11;0.00309)		all cancers(41;0.000413)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|STAD - Stomach adenocarcinoma(11;0.0742)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		Atorvastatin(DB01076)|Bevacizumab(DB00112)|Carvedilol(DB01136)|Ginkgo biloba(DB01381)|Gliclazide(DB01120)|Minocycline(DB01017)|Ranibizumab(DB01270)|Simvastatin(DB00641)	GCAGACGTGTAAATGTTCCTG	0.493													G	43749754	A	G	43749754	3	3	364	1	0	0	0	0	1	0	0	0	17252	363	13	3	1173	3	VEGFA	6	43749754	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1245	43749754	127365313	5343	28845											
MRPL14	64928	broad.mit.edu	37	chr6	44081608	44081608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctgagcaatggccagcAccttggaatactcgccttcc	9	10	9	13	1	1	1	0	1	1	0	3	2	2	2	4	2	3	3	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081608A>G	ENST00000372014.3	-	3	541	c.410T>C	c.(409-411)gTg>gCg	p.V137A		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	137					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			AATGGCCAGCACCTTGGAATA	0.557													G	44081608	A	G	44081608	3	3	364	1	0	0	0	0	1	0	0	0	9855	159	6	3	31	3	MRPL14	6	44081608	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	331854	44081608	127033459	5344	28846											
MRPL14	64928	broad.mit.edu	37	chr6	44081740	44081740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgggggtcattcgggggCcaggcatgcagtgccccaca	7	7	15	12	1	2	0	1	0	1	0	3	0	2	0	3	5	2	2	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081740C>T	ENST00000372014.3	-	3	409	c.278G>A	c.(277-279)gGc>gAc	p.G93D		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	93					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CATTCGGGGGCCAGGCATGCA	0.557													T	44081740	C	T	44081740	3	4	364	1	0	0	0	0	1	0	0	0	9855	739	26	2	163	2	MRPL14	6	44081740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132	44081740	127033327	5345	28847											
MRPL14	64928	broad.mit.edu	37	chr6	44081861	44081861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggatgcagcgaggagcccGatggtatgggctgttcccca	8	8	15	10	2	0	0	0	0	0	0	1	4	1	2	3	4	3	4	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44081861G>A	ENST00000372014.3	-	3	288	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W		NM_032111.2	NP_115487.2	Q6P1L8	RM14_HUMAN	mitochondrial ribosomal protein L14	53					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	12	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0181)			CGAGGAGCCCGATGGTATGGG	0.552													A	44081861	G	A	44081861	3	1	364	1	0	0	0	0	1	0	0	0	9855	1057	37	1	284	1	MRPL14	6	44081861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121	44081861	127033206	5346	28848											
TMEM63B	55362	broad.mit.edu	37	chr6	44102296	44102296	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgctccaccctctgcccAggaggaccatgcggcagtag	8	6	12	15	1	1	0	0	0	1	0	2	3	2	2	4	3	3	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44102296A>G	ENST00000259746.9	+	2	159		c.e2-1		TMEM63B_ENST00000323267.6_Splice_Site			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B							integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCCTCTGCCCAGGAGGACCAT	0.642													G	44102296	A	G	44102296	5	3	364	1	0	0	0	0	0	0	1	0	16291	202	7	3		3	TMEM63B	6	44102296	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20435	44102296	127012771	5347	28849											
CAPN11	11131	broad.mit.edu	37	chr6	44141025	44141025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaggacttcacaggaggcGtggcccagagcttccaactc	9	8	12	12	1	1	2	1	1	0	1	3	4	2	4	2	4	2	1	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44141025G>A	ENST00000542245.1	+	7	771	c.733G>A	c.(733-735)Gtg>Atg	p.V245M	CAPN11_ENST00000398776.1_Missense_Mutation_p.V245M			Q9UMQ6	CAN11_HUMAN	calpain 11	245	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CACAGGAGGCGTGGCCCAGAG	0.597											OREG0017466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	44141025	G	A	44141025	3	1	364	1	0	0	0	0	1	0	0	0	2650	1145	40	1	759	1	CAPN11	6	44141025	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38729	44141025	126974042	5348	28850											
CAPN11	11131	broad.mit.edu	37	chr6	44145044	44145044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatgacccagaggatgacGcagagggcaatgttgtggtc	10	7	17	7	1	0	4	0	2	0	2	1	6	0	6	1	4	0	3	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44145044G>A	ENST00000542245.1	+	12	1341	c.1303G>A	c.(1303-1305)Gca>Aca	p.A435T	CAPN11_ENST00000398776.1_Missense_Mutation_p.A435T			Q9UMQ6	CAN11_HUMAN	calpain 11	435	Domain III.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AGAGGATGACGCAGAGGGCAA	0.597													A	44145044	G	A	44145044	3	1	364	1	0	0	0	0	1	0	0	0	2650	1087	38	1	1349	1	CAPN11	6	44145044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4019	44145044	126970023	5349	28851											
HSP90AB1	3326	broad.mit.edu	37	chr6	44219266	44219266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaacattgttaagaagtGccttgagctcttctctgagc	12	12	8	9	0	2	3	0	2	2	1	3	3	2	3	1	0	4	2	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44219266G>A	ENST00000371554.1	+	8	1449	c.1235G>A	c.(1234-1236)tGc>tAc	p.C412Y	HSP90AB1_ENST00000353801.3_Missense_Mutation_p.C412Y|HSP90AB1_ENST00000371646.5_Missense_Mutation_p.C412Y			P08238	HS90B_HUMAN	heat shock protein 90kDa alpha (cytosolic), class B member 1	412					axon guidance|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of nitric oxide biosynthetic process|protein folding|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to unfolded protein	cytosol|melanosome	ATP binding|nitric-oxide synthase regulator activity|TPR domain binding|unfolded protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(12)|prostate(2)|skin(2)|urinary_tract(2)	33	all_cancers(18;1.7e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GTTAAGAAGTGCCTTGAGCTC	0.418													A	44219266	G	A	44219266	3	1	364	1	0	0	0	0	1	0	0	0	7459	1319	46	2	1261	2	HSP90AB1	6	44219266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74222	44219266	126895801	5350	28852											
NFKBIE	4794	broad.mit.edu	37	chr6	44227997	44227997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccacagccaggtgcagcGctgtcttaccactggtgccc	6	10	10	15	1	1	0	0	0	1	0	2	0	2	0	4	2	5	2	4	2	1	2	rs145497659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44227997G>A	ENST00000275015.5	-	5	1219	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_004556.2	NP_004547.2	O00221	IKBE_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon	407					cytoplasmic sequestering of transcription factor		protein binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGGTGCAGCGCTGTCTTACC	0.617													A	44227997	G	A	44227997	3	1	364	1	0	0	0	0	1	0	0	0	10456	1087	38	1	290	1	NFKBIE	6	44227997	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8731	44227997	126887070	5351	28853											
TCTE1	202500	broad.mit.edu	37	chr6	44250038	44250038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatgcagttgagacgtaGgttgagggaaatgaggttgg	10	10	17	4	2	0	3	0	3	0	1	1	6	0	4	0	4	1	5	0	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44250038G>T	ENST00000371505.4	-	4	1227	c.1105C>A	c.(1105-1107)Cta>Ata	p.L369I	TCTE1_ENST00000371503.3_Intron|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	369										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TTGAGACGTAGGTTGAGGGAA	0.602													T	44250038	G	T	44250038	3	4	364	1	0	0	0	0	1	0	0	0	15817	991	35	4	408	4	TCTE1	6	44250038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22041	44250038	126865029	5352	28854											
TCTE1	202500	broad.mit.edu	37	chr6	44253802	44253802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatgccgcagtccttgaCatcgtacaccaggtccagct	9	10	8	14	2	1	1	1	1	0	0	4	1	3	1	4	1	3	3	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44253802C>T	ENST00000371505.4	-	3	867	c.745G>A	c.(745-747)Gtc>Atc	p.V249I	TCTE1_ENST00000371503.3_Missense_Mutation_p.V96I|RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371504.1_Missense_Mutation_p.V96I	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	249										breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CAGTCCTTGACATCGTACACC	0.587													T	44253802	C	T	44253802	3	4	364	1	0	0	0	0	1	0	0	0	15817	478	17	2	772	2	TCTE1	6	44253802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3764	44253802	126861265	5353	28855											
SUPT3H	8464	broad.mit.edu	37	chr6	44971423	44971423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttaacttcatcaatttcGtcatcttcaaacattgctaa	12	17	3	9	1	5	0	4	0	1	0	6	0	5	0	0	0	3	2	0	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:44971423G>A	ENST00000371460.1	-	8	821	c.504C>T	c.(502-504)gaC>gaT	p.D168D	SUPT3H_ENST00000371459.1_Silent_p.D157D|SUPT3H_ENST00000371461.2_Silent_p.D168D|SUPT3H_ENST00000306867.5_Silent_p.D157D	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	239					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						CATCAATTTCGTCATCTTCAA	0.378													A	44971423	G	A	44971423	2	1	364	1	0	0	0	0	0	0	0	1	15493	1136	40	1		1	SUPT3H	6	44971423	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	717621	44971423	126143644	5354	28856											
CLIC5	53405	broad.mit.edu	37	chr6	45870860	45870860	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtttggcgacatcagcgtAggccaactcgatctcactgt	8	10	11	12	4	2	0	2	0	1	0	4	2	2	0	1	2	2	2	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:45870860A>G	ENST00000185206.6	-	6	1350	c.1198T>C	c.(1198-1200)Tac>Cac	p.Y400H	CLIC5_ENST00000339561.6_Missense_Mutation_p.Y241H	NM_001114086.1	NP_001107558.1	Q9NZA1	CLIC5_HUMAN	chloride intracellular channel 5	400	GST C-terminal.				female pregnancy	actin cytoskeleton|cell cortex|chloride channel complex|Golgi apparatus|insoluble fraction|microtubule organizing center	protein binding|voltage-gated chloride channel activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	13						ACATCAGCGTAGGCCAACTCG	0.587													G	45870860	A	G	45870860	3	3	364	1	0	0	0	0	1	0	0	0	3560	420	15	3	38	3	CLIC5	6	45870860	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	899437	45870860	125244207	5355	28857											
ENPP4	22875	broad.mit.edu	37	chr6	46107349	46107349	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtaatacttttgttttCtggacttataactggtttta	10	21	6	4	0	1	0	0	0	1	0	1	1	1	1	0	2	2	3	0	2	6	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107349C>A	ENST00000321037.4	+	2	259	c.29C>A	c.(28-30)tCt>tAt	p.S10Y		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	10						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						CTTTTGTTTTCTGGACTTATA	0.343													A	46107349	C	A	46107349	3	1	364	1	0	0	0	0	1	0	0	0	5173	913	32	4	31	4	ENPP4	6	46107349	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236489	46107349	125007718	5356	28858											
ENPP4	22875	broad.mit.edu	37	chr6	46107506	46107507	+	Frame_Shift_Ins	INS	-	-	A																															gtgttttggtagagcatgttINSaaaaatgtttttatcacaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46107506_46107507insA	ENST00000321037.4	+	2	416_417	c.186_187insA	c.(187-189)aaafs	p.K63fs		NM_014936.4	NP_055751.1	Q9Y6X5	ENPP4_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 4 (putative)	63						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	18						TAGAGCATGTTAAAAATGTTTT	0.356													A	46107507	-	A	46107506	7	5	364	1	0	1	1	0	0	0	0	0	5173	1741	61	0	188	0	ENPP4	6	46107506	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	157	46107506	125007561	5357	28859											
ENPP5	59084	broad.mit.edu	37	chr6	46129422	46129422	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgagaaattctttctgaAggcaggaccatgggctaaaa	13	12	10	6	0	2	2	0	2	2	1	2	4	2	3	1	3	0	2	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46129422A>T	ENST00000371383.2	-	5	1335	c.1075T>A	c.(1075-1077)Ttc>Atc	p.F359I	ENPP5_ENST00000230565.3_Missense_Mutation_p.F359I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	359						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						TTCTTTCTGAAGGCAGGACCA	0.418													T	46129422	A	T	46129422	3	4	364	1	0	0	0	0	1	0	0	0	5174	72	3	5	362	5	ENPP5	6	46129422	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21916	46129422	124985645	5358	28860											
RCAN2	10231	broad.mit.edu	37	chr6	46216554	46216554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttaggattgctgaagtttAtacggacacgtctgaaactc	12	13	9	7	2	1	2	0	2	1	0	2	4	1	4	0	2	3	2	0	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46216554A>G	ENST00000371374.1	-	3	496	c.305T>C	c.(304-306)aTa>aCa	p.I102T	RCAN2_ENST00000330430.6_Missense_Mutation_p.I56T|RCAN2_ENST00000306764.7_Missense_Mutation_p.I102T|RCAN2_ENST00000405162.1_Missense_Mutation_p.I102T	NM_001251974.1	NP_001238903.1	Q14206	RCAN2_HUMAN	regulator of calcineurin 2	56					calcium-mediated signaling|central nervous system development		nucleotide binding|protein phosphatase 2B binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGAAGTTTATACGGACACG	0.408													G	46216554	A	G	46216554	3	3	364	1	0	0	0	0	1	0	0	0	13257	449	16	3	438	3	RCAN2	6	46216554	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	87132	46216554	124898513	5359	28861											
CYP39A1	51302	broad.mit.edu	37	chr6	46620341	46620341	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtccagcaccttccaGaagcagaaaagtgtgaaaca	14	10	8	9	0	0	3	0	1	0	2	2	3	2	3	3	0	3	2	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46620341G>T	ENST00000275016.2	-	0	182					NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1						bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						GCACCTTCCAGAAGCAGAAAA	0.483													T	46620341	G	T	46620341	1	4	364	1	0	0	0	0	0	0	0	0	4210	957	33	4		4	CYP39A1	6	46620341	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403787	46620341	124494726	5360	28862											
TDRD6	221400	broad.mit.edu	37	chr6	46657579	46657579	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtattcttagttgacCgaggcaattcggaaaatgtg	11	13	12	5	2	1	1	0	1	1	0	2	4	1	3	1	3	0	3	1	3	5	5	rs141346043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46657579C>T	ENST00000544460.1	+	1	1968	c.1714C>T	c.(1714-1716)Cga>Tga	p.R572*	TDRD6_ENST00000316081.6_Nonsense_Mutation_p.R572*	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	572	Tudor 3.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CTTAGTTGACCGAGGCAATTC	0.443													T	46657579	C	T	46657579	4	4	364	1	0	0	0	0	0	1	0	0	15834	644	23	1	1716	1	TDRD6	6	46657579	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37238	46657579	124457488	5361	28863											
MEP1A	4224	broad.mit.edu	37	chr6	46806765	46806765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggggagcgctgtcaggcCgtgcaggtgcacggcagtgt	6	6	19	10	4	1	0	1	0	0	0	1	1	1	1	1	5	3	4	1	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46806765C>T	ENST00000230588.4	+	14	2142	c.2133C>T	c.(2131-2133)gcC>gcT	p.A711A		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	711				AVQ -> SAE (in Ref. 1; AAA21338 and 7; no nucleotide entry).	digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCTGTCAGGCCGTGCAGGTGC	0.587													T	46806765	C	T	46806765	2	4	364	1	0	0	0	0	0	0	0	1	9550	639	23	1		1	MEP1A	6	46806765	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149186	46806765	124308302	5362	28864											
GPR116	221395	broad.mit.edu	37	chr6	46826266	46826266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcaatggctttctgagtgGacctgcttgtttcatgcaga	8	13	12	8	0	2	2	1	1	1	1	2	3	2	3	1	3	2	5	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826266G>A	ENST00000283296.7	-	17	3662	c.3374C>T	c.(3373-3375)tCc>tTc	p.S1125F	GPR116_ENST00000362015.4_Missense_Mutation_p.S1125F|GPR116_ENST00000456426.2_Missense_Mutation_p.S983F|GPR116_ENST00000545669.1_Missense_Mutation_p.S554F|GPR116_ENST00000265417.7_Missense_Mutation_p.S1125F	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	1125					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTCTGAGTGGACCTGCTTGT	0.537													A	46826266	G	A	46826266	3	1	364	1	0	0	0	0	1	0	0	0	6687	1174	41	2	686	2	GPR116	6	46826266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19501	46826266	124288801	5363	28865											
GPR116	221395	broad.mit.edu	37	chr6	46826811	46826811	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgcctgaagggctattgttCttaaaagtcattgaaatcct	11	13	8	9	1	2	2	1	2	1	0	3	2	3	2	3	1	0	2	3	1	5	5	rs144073167		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46826811C>T	ENST00000283296.7	-	17	3117	c.2829G>A	c.(2827-2829)aaG>aaA	p.K943K	GPR116_ENST00000362015.4_Silent_p.K943K|GPR116_ENST00000456426.2_Silent_p.K801K|GPR116_ENST00000545669.1_Silent_p.K372K|GPR116_ENST00000265417.7_Silent_p.K943K	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	943					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCTATTGTTCTTAAAAGTCA	0.473													T	46826811	C	T	46826811	2	4	364	1	0	0	0	0	0	0	0	1	6687	912	32	2		2	GPR116	6	46826811	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	545	46826811	124288256	5364	28866											
GPR116	221395	broad.mit.edu	37	chr6	46836653	46836653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcgaggtcttgactgtcaGtactgattctgctccatcaa	8	13	10	10	1	4	2	2	2	2	0	6	3	5	2	1	2	2	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46836653G>T	ENST00000283296.7	-	12	1876	c.1588C>A	c.(1588-1590)Ctg>Atg	p.L530M	GPR116_ENST00000362015.4_Missense_Mutation_p.L530M|GPR116_ENST00000456426.2_Missense_Mutation_p.L388M|GPR116_ENST00000545669.1_De_novo_Start_InFrame|GPR116_ENST00000265417.7_Missense_Mutation_p.L530M	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	530	Ig-like 3.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTGACTGTCAGTACTGATTCT	0.438													T	46836653	G	T	46836653	3	4	364	1	0	0	0	0	1	0	0	0	6687	1020	36	4	2492	4	GPR116	6	46836653	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9842	46836653	124278414	5365	28867											
GPR110	266977	broad.mit.edu	37	chr6	46976733	46976733	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagccagattctggctgTccactattgttcctattcca	8	13	7	13	0	1	1	0	0	1	1	4	1	4	1	5	1	1	2	5	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:46976733T>C	ENST00000371253.2	-	11	2653	c.2438A>G	c.(2437-2439)gAc>gGc	p.D813G	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.D616G	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	813					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						ATTCTGGCTGTCCACTATTGT	0.473													C	46976733	T	C	46976733	3	2	364	1	0	0	0	0	1	0	0	0	6681	1667	58	3	314	3	GPR110	6	46976733	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	140080	46976733	124138334	5366	28868											
TNFRSF21	27242	broad.mit.edu	37	chr6	47221096	47221096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggcctcggggccccGgatggtccagtgctgcagag	5	6	18	12	2	0	1	0	0	0	1	2	3	1	2	4	6	2	3	4	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47221096G>A	ENST00000296861.2	-	4	1798	c.1405C>T	c.(1405-1407)Cgg>Tgg	p.R469W		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	469	Death.				cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			TCGGGGCCCCGGATGGTCCAG	0.607													A	47221096	G	A	47221096	3	1	364	1	0	0	0	0	1	0	0	0	16395	1115	39	1	574	1	TNFRSF21	6	47221096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	244363	47221096	123893971	5367	28869											
TNFRSF21	27242	broad.mit.edu	37	chr6	47253823	47253823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgtctccttggtccccGgcttgatcaccaccaggttc	4	13	9	15	1	3	1	1	1	2	0	6	1	4	1	5	3	0	2	5	3	0	3	rs146113475	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47253823G>A	ENST00000296861.2	-	2	998	c.605C>T	c.(604-606)cCg>cTg	p.P202L		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	202					cellular lipid metabolic process	cytoplasm|integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CTTGGTCCCCGGCTTGATCAC	0.557													A	47253823	G	A	47253823	3	1	364	1	0	0	0	0	1	0	0	0	16395	1116	39	1	1382	1	TNFRSF21	6	47253823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32727	47253823	123861244	5368	28870											
CD2AP	23607	broad.mit.edu	37	chr6	47471062	47471062	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgctgtacatgatgatgaAttaactattcgagttggaga	13	13	11	4	1	0	4	0	3	0	1	1	7	0	4	0	1	3	3	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47471062A>G	ENST00000359314.5	+	2	507	c.51A>G	c.(49-51)gaA>gaG	p.E17E		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	17	Interaction with ANLN and localization to the midbody.|SH3 1; truncated.				cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			ATGATGATGAATTAACTATTC	0.373													G	47471062	A	G	47471062	2	3	364	1	0	0	0	0	0	0	0	1	3024	98	4	3		3	CD2AP	6	47471062	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	217239	47471062	123644005	5369	28871											
CD2AP	23607	broad.mit.edu	37	chr6	47580272	47580272	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaatgagaagtaatctagaGgtaattaatttcttccagca	16	12	7	6	0	2	2	0	1	2	2	3	3	3	2	1	1	1	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47580272G>T	ENST00000359314.5	+	17	2334	c.1878G>T	c.(1876-1878)gaG>gaT	p.E626D		NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein	626					cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			GTAATCTAGAGGTAATTAATT	0.348													T	47580272	G	T	47580272	5	4	364	1	0	0	0	0	0	0	1	0	3024	1014	35	4	1944	4	CD2AP	6	47580272	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109210	47580272	123534795	5370	28872											
GPR111	222611	broad.mit.edu	37	chr6	47646785	47646785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgccctccagacactcaggGaaatatggggttttcatgca	10	11	10	10	0	2	1	2	0	0	1	3	2	3	2	2	3	2	2	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:47646785G>A	ENST00000398742.2	+	3	231	c.182G>A	c.(181-183)gGa>gAa	p.G61E	GPR111_ENST00000507065.1_Missense_Mutation_p.G61E|GPR111_ENST00000296862.1_Missense_Mutation_p.G129E			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	129					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						GACACTCAGGGAAATATGGGG	0.458													A	47646785	G	A	47646785	3	1	364	1	0	0	0	0	1	0	0	0	6682	1174	41	2	192	2	GPR111	6	47646785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66513	47646785	123468282	5371	28873											
MUT	4594	broad.mit.edu	37	chr6	49412430	49412430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcggttagtgcagcaagaCaacgttcagccaaagcttga	13	9	10	9	2	1	2	1	1	0	1	2	2	1	2	1	1	5	5	1	1	4	4	rs139765234		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49412430C>T	ENST00000274813.3	-	9	1725	c.1598G>A	c.(1597-1599)tGt>tAt	p.C533Y		NM_000255.3	NP_000246.2	P22033	MUTA_HUMAN	methylmalonyl CoA mutase	533					fatty acid beta-oxidation	mitochondrial matrix	cobalamin binding|metal ion binding|methylmalonyl-CoA mutase activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	30	Lung NSC(77;0.0376)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGCAGCAAGACAACGTTCAGC	0.438													T	49412430	C	T	49412430	3	4	364	1	0	0	0	0	1	0	0	0	10067	478	17	2	674	2	MUT	6	49412430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1765645	49412430	121702637	5372	28874											
CENPQ	55166	broad.mit.edu	37	chr6	49448778	49448778	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagctaatgaagaaggTctggcattactacaggtatg	15	9	11	6	0	1	2	0	1	1	1	1	3	1	2	0	3	3	3	0	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49448778T>A	ENST00000335783.3	+	6	556	c.462T>A	c.(460-462)ggT>ggA	p.G154G		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	154					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					ATGAAGAAGGTCTGGCATTAC	0.358													A	49448778	T	A	49448778	2	1	364	1	0	0	0	0	0	0	0	1	3271	1654	58	5		5	CENPQ	6	49448778	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36348	49448778	121666289	5373	28875											
CENPQ	55166	broad.mit.edu	37	chr6	49456375	49456375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggaactttctcagaaaaCtctcaaagcacccacacttc	13	9	4	15	1	2	1	2	0	2	1	6	2	3	2	2	1	3	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49456375C>A	ENST00000335783.3	+	8	747	c.653C>A	c.(652-654)aCt>aAt	p.T218N		NM_018132.3	NP_060602.2	Q7L2Z9	CENPQ_HUMAN	centromere protein Q	218					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	chromosome, centromeric region|cytosol|nucleoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(4)|ovary(2)|prostate(1)	11	Lung NSC(77;0.0128)					TCTCAGAAAACTCTCAAAGCA	0.358													A	49456375	C	A	49456375	3	1	364	1	0	0	0	0	1	0	0	0	3271	565	20	4	679	4	CENPQ	6	49456375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7597	49456375	121658692	5374	28876											
RHAG	6005	broad.mit.edu	37	chr6	49585861	49585861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgatcagcatttgggtggGgctcgtttttcccaggacag	7	12	13	9	1	1	1	1	1	0	0	3	2	2	2	1	4	1	3	1	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49585861G>A	ENST00000371175.4	-	3	438	c.412C>T	c.(412-414)Ccc>Tcc	p.P138S	RHAG_ENST00000229810.7_Missense_Mutation_p.P138S	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	138					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					ATTTGGGTGGGGCTCGTTTTT	0.368													A	49585861	G	A	49585861	3	1	364	1	0	0	0	0	1	0	0	0	13404	1232	43	2	849	2	RHAG	6	49585861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129486	49585861	121529206	5375	28877											
CRISP1	167	broad.mit.edu	37	chr6	49819840	49819840	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattggtctctagctgatttCttctgttaccagaaaaatat	12	16	6	7	0	3	2	0	1	3	1	4	2	3	2	1	1	2	2	1	1	6	6	rs138699394	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:49819840C>A	ENST00000335847.4	-	3	170	c.69G>T	c.(67-69)aaG>aaT	p.K23N	CRISP1_ENST00000536021.1_Missense_Mutation_p.K23N|CRISP1_ENST00000329411.5_Missense_Mutation_p.K23N|CRISP1_ENST00000507853.1_Missense_Mutation_p.K23N|CRISP1_ENST00000505118.1_Missense_Mutation_p.K23N|CRISP1_ENST00000355791.2_Missense_Mutation_p.K23N	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	23					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					TAGCTGATTTCTTCTGTTACC	0.333													A	49819840	C	A	49819840	3	1	364	1	0	0	0	0	1	0	0	0	3910	912	32	4	704	4	CRISP1	6	49819840	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233979	49819840	121295227	5376	28878											
TFAP2D	83741	broad.mit.edu	37	chr6	50683315	50683315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggccgccgcgggagcaGacgacttgcaggtaaataag	10	5	16	10	4	0	1	0	0	0	1	0	3	0	2	2	4	2	4	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50683315G>T	ENST00000008391.3	+	2	754	c.526G>T	c.(526-528)Gac>Tac	p.D176Y		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	176							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CGCGGGAGCAGACGACTTGCA	0.602													T	50683315	G	T	50683315	3	4	364	1	0	0	0	0	1	0	0	0	15890	942	33	4	532	4	TFAP2D	6	50683315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	863475	50683315	120431752	5377	28879											
TFAP2D	83741	broad.mit.edu	37	chr6	50719023	50719023	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttgacatccagagacaTttaacacatttcaggtaaga	15	10	7	9	0	1	3	1	1	0	2	2	5	2	3	2	1	1	1	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50719023T>C	ENST00000008391.3	+	7	1353	c.1125T>C	c.(1123-1125)caT>caC	p.H375H		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	375	H-S-H (helix-span-helix), dimerization.						DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCCAGAGACATTTAACACATT	0.403													C	50719023	T	C	50719023	2	2	364	1	0	0	0	0	0	0	0	1	15890	1490	52	3		3	TFAP2D	6	50719023	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35708	50719023	120396044	5378	28880											
TFAP2B	7021	broad.mit.edu	37	chr6	50807964	50807964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaaccggcagcacacaGacccgagtgacctgcactcc	11	6	9	15	2	0	3	0	2	0	1	1	4	1	3	4	1	3	3	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50807964G>T	ENST00000263046.4	+	7	1229	c.1063G>T	c.(1063-1065)Gac>Tac	p.D355Y	TFAP2B_ENST00000393655.3_Missense_Mutation_p.D346Y			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	346					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCAGCACACAGACCCGAGTGA	0.527													T	50807964	G	T	50807964	3	4	364	1	0	0	0	0	1	0	0	0	15888	942	33	4	1058	4	TFAP2B	6	50807964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88941	50807964	120307103	5379	28881											
TFAP2B	7021	broad.mit.edu	37	chr6	50810927	50810927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacttcagcctcatcaCgcacggcttcggcgccccgg	6	6	10	19	6	3	0	3	0	0	0	4	0	3	0	3	3	1	3	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:50810927C>T	ENST00000263046.4	+	8	1398	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	TFAP2B_ENST00000393655.3_Missense_Mutation_p.T402M			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	402				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AGCCTCATCACGCACGGCTTC	0.632													T	50810927	C	T	50810927	3	4	364	1	0	0	0	0	1	0	0	0	15888	536	19	1	1231	1	TFAP2B	6	50810927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2963	50810927	120304140	5380	28882											
PKHD1	5314	broad.mit.edu	37	chr6	51484203	51484203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagtaccaggagcaggCacagcagcctcttcctctcg	9	7	10	15	1	2	0	0	0	2	0	4	1	3	1	4	2	4	5	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51484203C>T	ENST00000371117.3	-	67	12176	c.11901G>A	c.(11899-11901)gtG>gtA	p.V3967V	RP3-335N17.2_ENST00000454361.1_RNA|RP3-335N17.2_ENST00000589278.2_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3967					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAGGAGCAGGCACAGCAGCCT	0.567													T	51484203	C	T	51484203	2	4	364	1	0	0	0	0	0	0	0	1	12048	697	25	2		2	PKHD1	6	51484203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	673276	51484203	119630864	5381	28883											
PKHD1	5314	broad.mit.edu	37	chr6	51524157	51524157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatttggttttggccaatCtgtaagaagttagttagtct	9	17	10	5	0	2	2	0	1	2	1	2	2	2	2	1	2	0	4	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51524157C>T	ENST00000371117.3	-	61	11042	c.10767G>A	c.(10765-10767)caG>caA	p.Q3589Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3589					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	p.Q3589H(1)|p.Q3589_I3590>HV(1)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTTGGCCAATCTGTAAGAAGT	0.433													T	51524157	C	T	51524157	2	4	364	1	0	0	0	0	0	0	0	1	12048	912	32	2		2	PKHD1	6	51524157	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39954	51524157	119590910	5382	28884											
PKHD1	5314	broad.mit.edu	37	chr6	51695675	51695675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgggtaaaatgagaacGtcatccccagggcctggaat	12	8	11	10	1	2	1	2	1	0	1	3	3	3	2	3	3	1	1	3	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51695675G>A	ENST00000371117.3	-	52	8561	c.8286C>T	c.(8284-8286)gaC>gaT	p.D2762D	PKHD1_ENST00000340994.4_Silent_p.D2762D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2762	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAATGAGAACGTCATCCCCAG	0.453													A	51695675	G	A	51695675	2	1	364	1	0	0	0	0	0	0	0	1	12048	1136	40	1		1	PKHD1	6	51695675	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171518	51695675	119419392	5383	28885											
PKHD1	5314	broad.mit.edu	37	chr6	51748014	51748014	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcaggcgaagattgctActtctaaaaatctataaaat	15	15	5	6	1	3	1	1	0	2	1	3	2	3	1	0	1	2	1	0	1	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:51748014A>G	ENST00000371117.3	-	46	7502	c.7227T>C	c.(7225-7227)agT>agC	p.S2409S	PKHD1_ENST00000340994.4_Silent_p.S2409S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2409					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GAAGATTGCTACTTCTAAAAA	0.343													G	51748014	A	G	51748014	2	3	364	1	0	0	0	0	0	0	0	1	12048	388	14	3		3	PKHD1	6	51748014	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52339	51748014	119367053	5384	28886											
MCM3	4172	broad.mit.edu	37	chr6	52137116	52137116	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctggcggtgtctgagcTcatgctatcctggctgcgca	5	10	12	14	2	2	1	1	1	1	0	3	1	3	1	2	3	3	4	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52137116T>C	ENST00000596288.1	-	12	1972	c.1945A>G	c.(1945-1947)Agc>Ggc	p.S649G	MCM3_ENST00000229854.7_Missense_Mutation_p.S604G|MCM3_ENST00000419835.2_Missense_Mutation_p.S558G	NM_002388.4	NP_002379.3	P25205	MCM3_HUMAN	minichromosome maintenance complex component 3	604					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	alpha DNA polymerase:primase complex|centrosome|MCM complex|perinuclear region of cytoplasm	ATP binding|DNA binding|helicase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	20	Lung NSC(77;0.0931)					GTGTCTGAGCTCATGCTATCC	0.567													C	52137116	T	C	52137116	3	2	364	1	0	0	0	0	1	0	0	0	9462	1551	54	3	640	3	MCM3	6	52137116	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	389102	52137116	118977951	5385	28887											
EFHC1	114327	broad.mit.edu	37	chr6	52334250	52334250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgaatgataacaaggtGcttcgttatttggctgtact	9	15	11	6	1	0	2	0	2	0	0	1	2	0	2	0	3	3	4	0	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52334250G>A	ENST00000371068.5	+	7	1360	c.1257G>A	c.(1255-1257)gtG>gtA	p.V419V	EFHC1_ENST00000433625.2_Silent_p.V328V|EFHC1_ENST00000538167.1_Silent_p.V400V	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	419	DM10 3.					axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					ATAACAAGGTGCTTCGTTATT	0.343													A	52334250	G	A	52334250	2	1	364	1	0	0	0	0	0	0	0	1	4985	1306	46	2		2	EFHC1	6	52334250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197134	52334250	118780817	5386	28888											
GSTA1	2938	broad.mit.edu	37	chr6	52657702	52657702	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagtcaagctcctcgacGtagtagagaagttccaccag	11	8	11	11	2	1	1	1	0	0	1	4	4	3	2	3	1	1	4	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52657702G>A	ENST00000334575.5	-	6	653	c.498C>T	c.(496-498)taC>taT	p.Y166Y	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	166	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	GCTCCTCGACGTAGTAGAGAA	0.527													A	52657702	G	A	52657702	2	1	364	1	0	0	0	0	0	0	0	1	6885	1140	40	1		1	GSTA1	6	52657702	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	323452	52657702	118457365	5387	28889											
GSTA5	221357	broad.mit.edu	37	chr6	52696717	52696717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggctttctctggctgccagGctgcagaaacttcttcaccg	7	11	10	13	1	3	1	1	0	2	1	4	1	3	1	2	3	3	4	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52696717G>A	ENST00000370989.2	-	6	627	c.598C>T	c.(598-600)Cct>Tct	p.P200S	GSTA5_ENST00000284562.2_Missense_Mutation_p.P200S|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGGCTGCCAGGCTGCAGAAAC	0.498													A	52696717	G	A	52696717	3	1	364	1	0	0	0	0	1	0	0	0	6889	1203	42	2	74	2	GSTA5	6	52696717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39015	52696717	118418350	5388	28890											
GSTA5	221357	broad.mit.edu	37	chr6	52698993	52698993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttgaccaaggcagtCttggcatctctttcctctgg	5	16	8	12	0	4	1	0	1	4	0	7	1	5	1	2	3	0	2	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52698993C>A	ENST00000370989.2	-	4	389	c.360G>T	c.(358-360)aaG>aaT	p.K120N	GSTA5_ENST00000284562.2_Missense_Mutation_p.K120N|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	CCAAGGCAGTCTTGGCATCTC	0.383													A	52698993	C	A	52698993	3	1	364	1	0	0	0	0	1	0	0	0	6889	912	32	4	320	4	GSTA5	6	52698993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2276	52698993	118416074	5389	28891											
GSTA5	221357	broad.mit.edu	37	chr6	52699064	52699064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaatctactataccttCtgtgtacatatcaatcctga	13	14	4	10	0	4	1	2	1	2	0	5	1	5	1	2	0	3	1	2	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52699064C>T	ENST00000370989.2	-	4	318	c.289G>A	c.(289-291)Gaa>Aaa	p.E97K	GSTA5_ENST00000284562.2_Missense_Mutation_p.E97K|GSTA5_ENST00000475052.1_5'UTR			Q7RTV2	GSTA5_HUMAN	glutathione S-transferase alpha 5		GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACTATACCTTCTGTGTACATA	0.348													T	52699064	C	T	52699064	3	4	364	1	0	0	0	0	1	0	0	0	6889	922	32	2	391	2	GSTA5	6	52699064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	52699064	118416003	5390	28892											
GSTA4	2941	broad.mit.edu	37	chr6	52849275	52849275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctaccttttcaaacacaGgaaagtatctaattatagcc	15	11	4	11	0	2	0	1	0	1	0	2	1	2	1	3	1	3	1	3	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52849275G>A	ENST00000541324.1	-	3	387	c.122C>T	c.(121-123)cCt>cTt	p.P41L	GSTA4_ENST00000370960.1_Missense_Mutation_p.P41L|GSTA4_ENST00000370959.1_Missense_Mutation_p.P134L|GSTA4_ENST00000486559.1_5'UTR			O15217	GSTA4_HUMAN	glutathione S-transferase alpha 4	134	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity|protein homodimerization activity			endometrium(1)|lung(3)|skin(2)|urinary_tract(1)	7	Lung NSC(77;0.103)				Glutathione(DB00143)	TTCAAACACAGGAAAGTATCT	0.433													A	52849275	G	A	52849275	3	1	364	1	0	0	0	0	1	0	0	0	6888	1000	35	2	279	2	GSTA4	6	52849275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150211	52849275	118265792	5391	28893											
GCM1	8521	broad.mit.edu	37	chr6	52993010	52993010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaagatttgggtcatctCaaaggacacaggttcagaag	14	9	12	6	0	3	3	3	1	1	2	4	4	3	4	0	3	0	1	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993010C>T	ENST00000259803.7	-	6	1516	c.1305G>A	c.(1303-1305)ttG>ttA	p.L435L		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	435						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					TGGGTCATCTCAAAGGACACA	0.418													T	52993010	C	T	52993010	2	4	364	1	0	0	0	0	0	0	0	1	6351	825	29	2		2	GCM1	6	52993010	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143735	52993010	118122057	5392	28894											
GCM1	8521	broad.mit.edu	37	chr6	52993556	52993556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggtccacagtggaagtCtggtcagtcagatctgtgat	9	11	14	7	0	4	2	2	1	2	1	5	3	5	3	1	4	0	0	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:52993556C>T	ENST00000259803.7	-	6	970	c.759G>A	c.(757-759)caG>caA	p.Q253Q		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	253						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					CAGTGGAAGTCTGGTCAGTCA	0.473													T	52993556	C	T	52993556	2	4	364	1	0	0	0	0	0	0	0	1	6351	912	32	2		2	GCM1	6	52993556	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	546	52993556	118121511	5393	28895											
ELOVL5	60481	broad.mit.edu	37	chr6	53139925	53139925	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcatcacaaaccaccaGatgttcagcatcgaggcatg	13	8	8	12	1	3	1	3	0	0	1	4	2	3	1	2	1	2	4	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53139925G>T	ENST00000542638.1	-	5	906	c.459C>A	c.(457-459)atC>atA	p.I153I	ELOVL5_ENST00000370918.4_Silent_p.I143I|ELOVL5_ENST00000304434.6_Silent_p.I153I|ELOVL5_ENST00000541407.1_Silent_p.I180I			Q9NYP7	ELOV5_HUMAN	ELOVL fatty acid elongase 5	153					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7	Lung NSC(77;0.116)					CAAACCACCAGATGTTCAGCA	0.507													T	53139925	G	T	53139925	2	4	364	1	0	0	0	0	0	0	0	1	5118	932	33	4		4	ELOVL5	6	53139925	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146369	53139925	117975142	5394	28896											
GCLC	2729	broad.mit.edu	37	chr6	53370255	53370255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggtgagcagtaccacaaAcaccacataggcagagttct	13	8	9	11	0	2	2	0	1	2	1	2	2	2	2	2	2	3	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370255A>G	ENST00000229416.6	-	12	1813	c.1330T>C	c.(1330-1332)Ttt>Ctt	p.F444L	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	444					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AGTACCACAAACACCACATAG	0.418													G	53370255	A	G	53370255	3	3	364	1	0	0	0	0	1	0	0	0	6349	43	2	3	603	3	GCLC	6	53370255	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	230330	53370255	117744812	5395	28897											
GCLC	2729	broad.mit.edu	37	chr6	53370685	53370685	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtctgccaatttgtggaCtgaatattctgtgatacaaa	12	15	8	6	0	2	2	0	2	2	0	2	3	2	3	1	1	2	0	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53370685C>T	ENST00000229416.6	-	11	1689	c.1206G>A	c.(1204-1206)caG>caA	p.Q402Q	RP1-27K12.4_ENST00000508884.1_RNA	NM_001197115.1|NM_001498.3	NP_001184044.1|NP_001489.1	P48506	GSH1_HUMAN	glutamate-cysteine ligase, catalytic subunit	402					anti-apoptosis|cell redox homeostasis|cysteine metabolic process|glutamate metabolic process|glutathione biosynthetic process|negative regulation of transcription, DNA-dependent|regulation of blood vessel size|response to heat|response to hormone stimulus|response to oxidative stress|xenobiotic metabolic process	cytosol	ADP binding|ATP binding|coenzyme binding|glutamate binding|glutamate-cysteine ligase activity|magnesium ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Lung NSC(77;0.0137)				L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)	AATTTGTGGACTGAATATTCT	0.393													T	53370685	C	T	53370685	2	4	364	1	0	0	0	0	0	0	0	1	6349	564	20	2		2	GCLC	6	53370685	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	430	53370685	117744382	5396	28898											
LRRC1	55227	broad.mit.edu	37	chr6	53762158	53762158	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactgtcagaattacctcagGtaagtggtaatttcacagtg	13	12	9	7	0	3	1	3	0	0	1	3	1	3	1	1	2	2	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:53762158G>A	ENST00000370888.1	+	7	919		c.e7+1			NM_018214.4	NP_060684.4	Q9BTT6	LRRC1_HUMAN	leucine rich repeat containing 1							cytoplasm|membrane				cervix(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Lung NSC(77;0.0147)			BRCA - Breast invasive adenocarcinoma(397;0.0745)		ATTACCTCAGGTAAGTGGTAA	0.368													A	53762158	G	A	53762158	5	1	364	1	0	0	0	0	0	0	1	0	9036	1275	44	2	669	2	LRRC1	6	53762158	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391473	53762158	117352909	5397	28899											
TINAG	27283	broad.mit.edu	37	chr6	54173380	54173380	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataagatcttaatcttctCttatcttactacagaaatct	14	17	2	8	0	5	2	0	0	5	2	6	2	5	2	0	0	2	0	0	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54173380C>A	ENST00000259782.4	+	1	128	c.32C>A	c.(31-33)tCt>tAt	p.S11Y	TINAG_ENST00000486436.1_Intron|TINAG_ENST00000370864.3_5'UTR|TINAG_ENST00000370869.3_Intron	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	11					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTAATCTTCTCTTATCTTACT	0.413													A	54173380	C	A	54173380	3	1	364	1	0	0	0	0	1	0	0	0	16021	913	32	4	34	4	TINAG	6	54173380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411222	54173380	116941687	5398	28900											
TINAG	27283	broad.mit.edu	37	chr6	54208056	54208056	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacaactgatcttccagaGttttttgttgcttcttataa	10	17	6	8	0	2	2	0	1	2	1	3	2	3	2	1	0	3	4	1	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208056G>A	ENST00000259782.4	+	5	753	c.657G>A	c.(655-657)gaG>gaA	p.E219E		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	219					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			ATCTTCCAGAGTTTTTTGTTG	0.393													A	54208056	G	A	54208056	2	1	364	1	0	0	0	0	0	0	0	1	16021	1020	36	2		2	TINAG	6	54208056	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34676	54208056	116907011	5399	28901											
TINAG	27283	broad.mit.edu	37	chr6	54208113	54208113	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggcccattggatcaaaaAaattgtgctgcatcctgggc	11	10	10	10	0	1	0	1	0	0	0	2	1	2	1	2	3	2	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54208113A>C	ENST00000259782.4	+	5	810	c.714A>C	c.(712-714)aaA>aaC	p.K238N		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	238					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TGGATCAAAAAAATTGTGCTG	0.388													C	54208113	A	C	54208113	3	2	364	1	0	0	0	0	1	0	0	0	16021	11	1	5	732	5	TINAG	6	54208113	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57	54208113	116906954	5400	28902											
TINAG	27283	broad.mit.edu	37	chr6	54214695	54214695	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacagagtctcttccaacGtaagtataaatggcaagaat	16	10	7	8	1	1	2	0	0	1	2	3	2	2	2	1	1	2	3	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54214695G>A	ENST00000259782.4	+	7	1176		c.e7+1			NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen						cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CTCTTCCAACGTAAGTATAAA	0.353													A	54214695	G	A	54214695	5	1	364	1	0	0	0	0	0	0	1	0	16021	1159	40	1	1107	1	TINAG	6	54214695	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6582	54214695	116900372	5401	28903											
FAM83B	222584	broad.mit.edu	37	chr6	54806043	54806043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaagaacttgcttcaaaGaaggaagttaagggttcccc	16	8	9	8	0	1	2	1	0	0	2	2	3	2	3	2	2	3	3	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:54806043G>T	ENST00000306858.7	+	5	2390	c.2274G>T	c.(2272-2274)aaG>aaT	p.K758N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	758										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TTGCTTCAAAGAAGGAAGTTA	0.378													T	54806043	G	T	54806043	3	4	364	1	0	0	0	0	1	0	0	0	5684	933	33	4	2288	4	FAM83B	6	54806043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591348	54806043	116309024	5402	28904											
HCRTR2	3062	broad.mit.edu	37	chr6	55113475	55113475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaaccaccacatgaggacgGtaaccaactacttcatagtc	15	7	7	12	1	1	2	1	1	0	1	2	3	1	3	3	2	4	1	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55113475G>T	ENST00000370862.3	+	2	598	c.262G>T	c.(262-264)Gta>Tta	p.V88L		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	88					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			CATGAGGACGGTAACCAACTA	0.448													T	55113475	G	T	55113475	3	4	364	1	0	0	0	0	1	0	0	0	7057	1261	44	4	268	4	HCRTR2	6	55113475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	307432	55113475	116001592	5403	28905											
GFRAL	389400	broad.mit.edu	37	chr6	55196545	55196545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaaaatgaatacactTcccaaaccaataattgcaca	17	9	5	10	0	0	1	0	1	0	0	1	2	1	2	2	1	3	2	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55196545T>C	ENST00000340465.2	+	2	141	c.55T>C	c.(55-57)Tcc>Ccc	p.S19P		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	19						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			TGAATACACTTCCCAAACCAA	0.343													C	55196545	T	C	55196545	3	2	364	1	0	0	0	0	1	0	0	0	6407	1783	62	3	61	3	GFRAL	6	55196545	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83070	55196545	115918522	5404	28906											
BMP5	653	broad.mit.edu	37	chr6	55625255	55625255	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgactgaaaattcctacCtgccatcccagatcccggaa	12	9	7	13	1	0	3	0	2	0	1	3	4	3	4	5	1	2	1	5	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55625255C>A	ENST00000370830.3	-	5	1802	c.1104G>T	c.(1102-1104)caG>caT	p.Q368H	BMP5_ENST00000446683.2_Splice_Site_p.Q368H	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	368					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			AAATTCCTACCTGCCATCCCA	0.358													A	55625255	C	A	55625255	5	1	364	1	0	0	0	0	0	0	1	0	1469	695	24	4	272	4	BMP5	6	55625255	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	428710	55625255	115489812	5405	28907											
BMP5	653	broad.mit.edu	37	chr6	55684513	55684513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taattgtttcattttcaaatCggttgttgctccggtccttg	6	19	8	8	2	2	0	2	0	0	0	5	0	4	0	2	2	1	4	2	2	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55684513C>T	ENST00000370830.3	-	2	1321	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	BMP5_ENST00000446683.2_Missense_Mutation_p.R208Q	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	208					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATTTTCAAATCGGTTGTTGCT	0.338													T	55684513	C	T	55684513	3	4	364	1	0	0	0	0	1	0	0	0	1469	884	31	1	765	1	BMP5	6	55684513	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59258	55684513	115430554	5406	28908											
BMP5	653	broad.mit.edu	37	chr6	55739531	55739531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcccgtctttcgtggtTccgtagtcttctataaataa	8	18	6	9	3	3	0	0	0	3	0	6	0	5	0	2	1	0	2	2	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:55739531T>C	ENST00000370830.3	-	1	831	c.133A>G	c.(133-135)Aac>Gac	p.N45D	BMP5_ENST00000446683.2_Missense_Mutation_p.N45D	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	45					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			CTTTCGTGGTTCCGTAGTCTT	0.463													C	55739531	T	C	55739531	3	2	364	1	0	0	0	0	1	0	0	0	1469	1783	62	3	1259	3	BMP5	6	55739531	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55018	55739531	115375536	5407	28909											
DST	667	broad.mit.edu	37	chr6	56362694	56362695	+	Frame_Shift_Ins	INS	-	-	T																															ctgctgcttcctttgttctgINSttttttccaaaacattttgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56362694_56362695insT	ENST00000370754.5	-	81	19959_19960	c.19960_19961insA	c.(19960-19962)acafs	p.T6654fs	DST_ENST00000370788.2_Frame_Shift_Ins_p.T4279fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.T6365fs|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.T4062fs|DST_ENST00000421834.2_Frame_Shift_Ins_p.T4388fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000446842.2_Frame_Shift_Ins_p.T6150fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.T6476fs			Q03001	DYST_HUMAN	dystonin	6474					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391													T	56362695	-	T	56362694	7	5	364	1	0	1	1	0	0	0	0	0	4822	1377	48	0	3422	0	DST	6	56362694	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	623163	56362694	114752373	5408	28910											
DST	667	broad.mit.edu	37	chr6	56374448	56374448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagtattacctttggcaGatatgtctttatcagtcccc	11	14	6	10	0	2	1	1	0	1	1	3	1	3	1	3	1	1	2	3	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374448G>T	ENST00000370754.5	-	74	18910	c.18911C>A	c.(18910-18912)tCt>tAt	p.S6304Y	DST_ENST00000370769.4_Missense_Mutation_p.S6126Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.S3929Y|DST_ENST00000361203.3_Missense_Mutation_p.S6015Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S3712Y|DST_ENST00000421834.2_Missense_Mutation_p.S4038Y|DST_ENST00000446842.2_Missense_Mutation_p.S5800Y			Q03001	DYST_HUMAN	dystonin	6124					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACCTTTGGCAGATATGTCTTT	0.393													T	56374448	G	T	56374448	3	4	364	1	0	0	0	0	1	0	0	0	4822	942	33	4	4500	4	DST	6	56374448	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11754	56374448	114740619	5409	28911											
DST	667	broad.mit.edu	37	chr6	56374499	56374499	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcatttcctctcccctcTgtttaagagtttcatacaac	10	15	3	13	0	4	1	2	0	2	1	6	1	5	1	3	0	2	2	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56374499T>C	ENST00000370754.5	-	74	18859	c.18860A>G	c.(18859-18861)cAg>cGg	p.Q6287R	DST_ENST00000370769.4_Missense_Mutation_p.Q6109R|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.Q3912R|DST_ENST00000361203.3_Missense_Mutation_p.Q5998R|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.Q3695R|DST_ENST00000421834.2_Missense_Mutation_p.Q4021R|DST_ENST00000446842.2_Missense_Mutation_p.Q5783R			Q03001	DYST_HUMAN	dystonin	6107					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CTCTCCCCTCTGTTTAAGAGT	0.388													C	56374499	T	C	56374499	3	2	364	1	0	0	0	0	1	0	0	0	4822	1580	55	3	4551	3	DST	6	56374499	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51	56374499	114740568	5410	28912											
DST	667	broad.mit.edu	37	chr6	56382357	56382357	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcctgatgtcacccagaGacatcaattttttttctgtt	10	15	6	10	0	3	2	2	1	1	1	3	3	3	2	2	0	1	1	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56382357G>T	ENST00000370754.5	-	70	18097	c.18098C>A	c.(18097-18099)tCt>tAt	p.S6033Y	DST_ENST00000370769.4_Missense_Mutation_p.S5855Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.S3658Y|DST_ENST00000361203.3_Missense_Mutation_p.S5744Y|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.S3441Y|DST_ENST00000421834.2_Missense_Mutation_p.S3767Y|DST_ENST00000446842.2_Missense_Mutation_p.S5529Y			Q03001	DYST_HUMAN	dystonin	5853					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GTCACCCAGAGACATCAATTT	0.388													T	56382357	G	T	56382357	3	4	364	1	0	0	0	0	1	0	0	0	4822	942	33	4	5329	4	DST	6	56382357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7858	56382357	114732710	5411	28913											
DST	667	broad.mit.edu	37	chr6	56391170	56391170	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctacctgctgtgatcGcagaatggctgcatcgatct	7	13	9	12	2	1	2	0	1	1	1	4	3	2	2	2	1	3	4	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56391170G>A	ENST00000370754.5	-	69	18024	c.18025C>T	c.(18025-18027)Cga>Tga	p.R6009*	DST_ENST00000370769.4_Nonsense_Mutation_p.R5831*|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Nonsense_Mutation_p.R3634*|DST_ENST00000361203.3_Nonsense_Mutation_p.R5720*|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Nonsense_Mutation_p.R3417*|DST_ENST00000421834.2_Nonsense_Mutation_p.R3743*|DST_ENST00000446842.2_Nonsense_Mutation_p.R5505*			Q03001	DYST_HUMAN	dystonin	5829					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TGCTGTGATCGCAGAATGGCT	0.443													A	56391170	G	A	56391170	4	1	364	1	0	0	0	0	0	1	0	0	4822	1095	38	1	5406	1	DST	6	56391170	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8813	56391170	114723897	5412	28914											
DST	667	broad.mit.edu	37	chr6	56394563	56394563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgattgatgatgtcatCttctaaggcctaagcaaagt	12	14	9	6	0	3	3	1	3	2	0	3	3	3	3	1	1	1	1	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56394563C>A	ENST00000370754.5	-	66	17184	c.17185G>T	c.(17185-17187)Gat>Tat	p.D5729Y	DST_ENST00000370769.4_Missense_Mutation_p.D5551Y|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.D3137Y|DST_ENST00000421834.2_Missense_Mutation_p.D3463Y|DST_ENST00000446842.2_Missense_Mutation_p.D5225Y			Q03001	DYST_HUMAN	dystonin	5549					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATGATGTCATCTTCTAAGGCC	0.328													A	56394563	C	A	56394563	3	1	364	1	0	0	0	0	1	0	0	0	4822	913	32	4	6258	4	DST	6	56394563	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3393	56394563	114720504	5413	28915											
DST	667	broad.mit.edu	37	chr6	56397210	56397210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagctgtttcaaaatcttCactttatctgcgggctctgc	7	15	8	11	1	5	1	2	1	3	0	5	1	5	1	0	1	3	3	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56397210C>T	ENST00000370754.5	-	64	16946	c.16947G>A	c.(16945-16947)gtG>gtA	p.V5649V	DST_ENST00000370769.4_Silent_p.V5471V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.V3383V|DST_ENST00000361203.3_Silent_p.V5469V|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.V3057V|DST_ENST00000421834.2_Silent_p.V3383V|DST_ENST00000446842.2_Silent_p.V5145V			Q03001	DYST_HUMAN	dystonin	5469					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCAAAATCTTCACTTTATCTG	0.403													T	56397210	C	T	56397210	2	4	364	1	0	0	0	0	0	0	0	1	4822	813	29	2		2	DST	6	56397210	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2647	56397210	114717857	5414	28916											
DST	667	broad.mit.edu	37	chr6	56400023	56400023	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccagctgagcagggacTccagggcatcctggaacctc	9	6	11	15	0	0	1	0	1	0	0	4	3	3	3	5	3	3	3	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56400023T>A	ENST00000370754.5	-	63	16744	c.16745A>T	c.(16744-16746)gAg>gTg	p.E5582V	DST_ENST00000370769.4_Missense_Mutation_p.E5404V|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.E3316V|DST_ENST00000361203.3_Missense_Mutation_p.E5402V|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Missense_Mutation_p.E2990V|DST_ENST00000421834.2_Missense_Mutation_p.E3316V|DST_ENST00000446842.2_Missense_Mutation_p.E5078V			Q03001	DYST_HUMAN	dystonin	5402					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGCAGGGACTCCAGGGCATC	0.552													A	56400023	T	A	56400023	3	1	364	1	0	0	0	0	1	0	0	0	4822	1551	54	5	6710	5	DST	6	56400023	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2813	56400023	114715044	5415	28917											
DST	667	broad.mit.edu	37	chr6	56401697	56401697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctaaccagtttacatcttgCtgtttaccttgcaagggttc	8	15	7	11	0	1	0	0	0	1	0	2	0	1	0	3	1	5	5	3	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56401697C>T	ENST00000370754.5	-	62	16556	c.16557G>A	c.(16555-16557)caG>caA	p.Q5519Q	DST_ENST00000370769.4_Silent_p.Q5341Q|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Silent_p.Q3253Q|DST_ENST00000361203.3_Silent_p.Q5339Q|DST_ENST00000340834.4_5'UTR|DST_ENST00000244364.6_Silent_p.Q2927Q|DST_ENST00000421834.2_Silent_p.Q3253Q|DST_ENST00000446842.2_Silent_p.Q5015Q			Q03001	DYST_HUMAN	dystonin	5339					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTACATCTTGCTGTTTACCTT	0.408													T	56401697	C	T	56401697	2	4	364	1	0	0	0	0	0	0	0	1	4822	796	28	2		2	DST	6	56401697	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1674	56401697	114713370	5416	28918											
DST	667	broad.mit.edu	37	chr6	56417281	56417281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attggcattgtcattgcttgCcatgagggcttctagtttct	6	17	10	8	0	3	1	1	1	2	0	3	1	3	1	1	2	2	4	1	2	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56417281C>T	ENST00000370754.5	-	61	16215	c.16216G>A	c.(16216-16218)Gca>Aca	p.A5406T	DST_ENST00000370769.4_Missense_Mutation_p.A5228T|DST_ENST00000312431.6_3'UTR|DST_ENST00000370788.2_Missense_Mutation_p.A3140T|DST_ENST00000361203.3_Missense_Mutation_p.A5226T|DST_ENST00000244364.6_Missense_Mutation_p.A2814T|DST_ENST00000421834.2_Missense_Mutation_p.A3140T|DST_ENST00000446842.2_Missense_Mutation_p.A4902T			Q03001	DYST_HUMAN	dystonin	5226					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGCTTGCCATGAGGGCT	0.433													T	56417281	C	T	56417281	3	4	364	1	0	0	0	0	1	0	0	0	4822	739	26	2	7247	2	DST	6	56417281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15584	56417281	114697786	5417	28919											
DST	667	broad.mit.edu	37	chr6	56468010	56468010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttatgcctaccatttcaGagtcgatcgcaagcatgatc	11	13	7	10	2	1	2	1	1	0	1	4	3	1	2	2	0	3	2	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468010G>T	ENST00000370754.5	-	41	11050	c.11051C>A	c.(11050-11052)tCt>tAt	p.S3684Y	DST_ENST00000370769.4_Missense_Mutation_p.S3506Y|DST_ENST00000312431.6_Missense_Mutation_p.S3506Y|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.S3506Y|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.S3180Y			Q03001	DYST_HUMAN	dystonin	3506					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TACCATTTCAGAGTCGATCGC	0.363													T	56468010	G	T	56468010	3	4	364	1	0	0	0	0	1	0	0	0	4822	957	33	4		4	DST	6	56468010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50729	56468010	114647057	5418	28920											
DST	667	broad.mit.edu	37	chr6	56468377	56468377	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacctccaactgtctaagTtgattcttcaaagcttccaa	11	14	4	12	0	3	1	1	1	2	0	5	1	5	1	3	0	3	2	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56468377T>G	ENST00000370754.5	-	40	10826	c.10827A>C	c.(10825-10827)caA>caC	p.Q3609H	DST_ENST00000370769.4_Missense_Mutation_p.Q3431H|DST_ENST00000312431.6_Missense_Mutation_p.Q3431H|DST_ENST00000370788.2_Intron|DST_ENST00000361203.3_Missense_Mutation_p.Q3431H|DST_ENST00000244364.6_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000446842.2_Missense_Mutation_p.Q3105H			Q03001	DYST_HUMAN	dystonin	3431					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ACTGTCTAAGTTGATTCTTCA	0.388													G	56468377	T	G	56468377	3	3	364	1	0	0	0	0	1	0	0	0	4822	1740	60	5		5	DST	6	56468377	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	367	56468377	114646690	5419	28921											
DST	667	broad.mit.edu	37	chr6	56492955	56492955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaatgccctctaagtcccGtaacctaagagaatagtaac	14	8	7	12	1	1	1	0	0	1	1	2	2	2	1	4	0	3	2	4	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56492955G>A	ENST00000370754.5	-	32	4380	c.4381C>T	c.(4381-4383)Cgg>Tgg	p.R1461W	DST_ENST00000370769.4_Missense_Mutation_p.R1283W|DST_ENST00000312431.6_Missense_Mutation_p.R1283W|DST_ENST00000370788.2_Missense_Mutation_p.R1283W|DST_ENST00000518935.1_Missense_Mutation_p.R957W|DST_ENST00000361203.3_Missense_Mutation_p.R1283W|DST_ENST00000370765.6_Missense_Mutation_p.R957W|DST_ENST00000244364.6_Missense_Mutation_p.R957W|DST_ENST00000421834.2_Missense_Mutation_p.R1283W|DST_ENST00000446842.2_Missense_Mutation_p.R957W			Q03001	DYST_HUMAN	dystonin	1283					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTAAGTCCCGTAACCTAAGA	0.438													A	56492955	G	A	56492955	3	1	364	1	0	0	0	0	1	0	0	0	4822	1144	40	1	17550	1	DST	6	56492955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24578	56492955	114622112	5420	28922											
DST	667	broad.mit.edu	37	chr6	56506847	56506847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacattcaagtatatacccaGcaatttctgcttcattctga	12	14	4	11	0	4	1	2	1	2	0	4	1	4	1	1	0	3	3	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56506847G>A	ENST00000370754.5	-	16	1825	c.1826C>T	c.(1825-1827)gCt>gTt	p.A609V	DST_ENST00000370769.4_Missense_Mutation_p.A431V|DST_ENST00000312431.6_Missense_Mutation_p.A431V|DST_ENST00000370788.2_Missense_Mutation_p.A431V|DST_ENST00000518935.1_Missense_Mutation_p.A105V|DST_ENST00000361203.3_Missense_Mutation_p.A431V|DST_ENST00000370765.6_Missense_Mutation_p.A105V|DST_ENST00000244364.6_Missense_Mutation_p.A105V|DST_ENST00000421834.2_Missense_Mutation_p.A431V|DST_ENST00000446842.2_Missense_Mutation_p.A105V			Q03001	DYST_HUMAN	dystonin	431					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TATATACCCAGCAATTTCTGC	0.338													A	56506847	G	A	56506847	3	1	364	1	0	0	0	0	1	0	0	0	4822	971	34	2	20169	2	DST	6	56506847	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13892	56506847	114608220	5421	28923											
BEND6	221336	broad.mit.edu	37	chr6	56846620	56846620	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgagaaaatgcagaagatCgtgcagacagatgaaattac	18	8	10	5	1	0	6	0	2	0	5	1	7	0	6	0	0	3	2	0	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56846620C>T	ENST00000370748.3	+	2	447	c.12C>T	c.(10-12)atC>atT	p.I4I	BEND6_ENST00000370746.3_Silent_p.I4I|BEND6_ENST00000370745.1_Silent_p.I4I|BEND6_ENST00000370750.2_Silent_p.I4I			Q5SZJ8	BEND6_HUMAN	BEN domain containing 6	4										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	17						TGCAGAAGATCGTGCAGACAG	0.368													T	56846620	C	T	56846620	2	4	364	1	0	0	0	0	0	0	0	1	1407	874	31	1		1	BEND6	6	56846620	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339773	56846620	114268447	5422	28924											
KIAA1586	57691	broad.mit.edu	37	chr6	56918203	56918203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaagaaatgaagatgaaGatatttaagaatattataga	22	10	8	1	0	0	7	0	2	0	5	0	7	0	7	0	0	0	1	0	0	11	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:56918203G>T	ENST00000370733.4	+	4	1113	c.906G>T	c.(904-906)aaG>aaT	p.K302N	KIAA1586_ENST00000545356.1_Missense_Mutation_p.K275N	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	302							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			TGAAGATGAAGATATTTAAGA	0.313													T	56918203	G	T	56918203	3	4	364	1	0	0	0	0	1	0	0	0	8303	933	33	4	920	4	KIAA1586	6	56918203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71583	56918203	114196864	5423	28925											
LGSN	51557	broad.mit.edu	37	chr6	63990679	63990679	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgaccaggcctggtagaGgaggaaaaactctcgacatt	13	8	11	9	1	2	2	0	1	2	1	3	5	2	4	2	4	1	1	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:63990679G>T	ENST00000370657.4	-	4	810	c.777C>A	c.(775-777)tcC>tcA	p.S259S	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	259					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	GCCTGGTAGAGGAGGAAAAAC	0.438													T	63990679	G	T	63990679	2	4	364	1	0	0	0	0	0	0	0	1	8819	987	35	4		4	LGSN	6	63990679	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7072476	63990679	107124388	5424	28926											
PHF3	23469	broad.mit.edu	37	chr6	64395427	64395427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgagtgataagtcacacGctcatcctggttgcttgaaa	10	13	9	9	1	2	3	2	3	0	0	3	3	3	3	1	1	1	3	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64395427G>A	ENST00000262043.3	+	4	2144	c.1804G>A	c.(1804-1806)Gct>Act	p.A602T	PHF3_ENST00000509330.1_Missense_Mutation_p.A602T|PHF3_ENST00000393387.1_Missense_Mutation_p.A602T			Q92576	PHF3_HUMAN	PHD finger protein 3	602					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TAAGTCACACGCTCATCCTGG	0.408													A	64395427	G	A	64395427	3	1	364	1	0	0	0	0	1	0	0	0	11913	1087	38	1	1814	1	PHF3	6	64395427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404748	64395427	106719640	5425	28927											
PHF3	23469	broad.mit.edu	37	chr6	64401711	64401711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaagcacagcagatgggCgaggaagacaaagaatatgt	16	6	12	7	1	1	3	1	0	1	3	2	5	1	4	0	2	2	2	0	2	5	1	rs137872439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:64401711C>T	ENST00000262043.3	+	5	2614	c.2274C>T	c.(2272-2274)ggC>ggT	p.G758G	PHF3_ENST00000393387.1_Silent_p.G758G			Q92576	PHF3_HUMAN	PHD finger protein 3	758					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.G758G(2)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGCAGATGGGCGAGGAAGACA	0.413													T	64401711	C	T	64401711	2	4	364	1	0	0	0	0	0	0	0	1	11913	755	27	1		1	PHF3	6	64401711	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6284	64401711	106713356	5426	28928											
EYS	346007	broad.mit.edu	37	chr6	66063498	66063498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggattttttgtgcaccctgGaatgcatacatactgcaaaa	12	13	8	8	0	0	0	0	0	0	0	0	2	0	2	1	2	5	3	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:66063498G>T	ENST00000503581.1	-	9	1849	c.1312C>A	c.(1312-1314)Cca>Aca	p.P438T	EYS_ENST00000370616.2_Missense_Mutation_p.P438T|EYS_ENST00000370621.3_Missense_Mutation_p.P438T|EYS_ENST00000342421.5_Missense_Mutation_p.P438T|EYS_ENST00000370618.3_Missense_Mutation_p.P438T|EYS_ENST00000393380.2_Missense_Mutation_p.P438T	NM_001142800.1	NP_001136272.1	Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	438					response to stimulus|visual perception	extracellular region	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						GTGCACCCTGGAATGCATACA	0.313													T	66063498	G	T	66063498	3	4	364	1	0	0	0	0	1	0	0	0	5374	1174	41	4	8224	4	EYS	6	66063498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1661787	66063498	105051569	5427	28929											
BAI3	577	broad.mit.edu	37	chr6	70071116	70071116	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcccagaagttctgtaaaTaaccagccttcaatgaaaga	16	9	7	9	0	2	3	1	1	1	2	2	3	2	3	3	0	3	2	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70071116T>C	ENST00000370598.1	+	29	4772	c.3951T>C	c.(3949-3951)aaT>aaC	p.N1317N	BAI3_ENST00000546190.1_Silent_p.N281N|BAI3_ENST00000238918.8_Silent_p.N523N	NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	1317					negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				GTTCTGTAAATAACCAGCCTT	0.393													C	70071116	T	C	70071116	2	2	364	1	0	0	0	0	0	0	0	1	1305	1403	49	3		3	BAI3	6	70071116	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4007618	70071116	101043951	5428	28930											
COL19A1	1310	broad.mit.edu	37	chr6	70840080	70840080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcacccctagggaaatGatgaacatgaagctggaggc	12	10	11	8	0	1	3	1	3	0	0	1	5	1	5	2	3	2	1	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70840080G>T	ENST00000322773.4	+	18	1450	c.1348G>T	c.(1348-1350)Gat>Tat	p.D450Y	COL19A1_ENST00000393344.1_Missense_Mutation_p.D72Y	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	450	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						CTAGGGAAATGATGAACATGA	0.378													T	70840080	G	T	70840080	3	4	364	1	0	0	0	0	1	0	0	0	3707	1290	45	4	1414	4	COL19A1	6	70840080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	768964	70840080	100274987	5429	28931											
COL9A1	1297	broad.mit.edu	37	chr6	70944298	70944298	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgtcggtgctctacccTgggacagaaaagaaaaaaag	15	7	11	8	1	2	2	0	0	2	2	3	4	2	3	1	2	2	1	1	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70944298T>C	ENST00000357250.6	-	35	2418		c.e35-2		COL9A1_ENST00000489611.1_Splice_Site|COL9A1_ENST00000320755.7_Splice_Site|RP1-149L1.1_ENST00000522264.1_RNA|COL9A1_ENST00000370499.4_Splice_Site	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1						axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TGCTCTACCCTGGGACAGAAA	0.408													C	70944298	T	C	70944298	5	2	364	1	0	0	0	0	0	0	1	0	3738	1594	55	3	523	3	COL9A1	6	70944298	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	104218	70944298	100170769	5430	28932											
COL9A1	1297	broad.mit.edu	37	chr6	70964198	70964198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtaacccctgcaatcctGcatcaccaggaggcccaggt	9	7	10	15	0	1	0	1	0	0	0	2	1	2	1	5	4	3	3	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70964198G>A	ENST00000357250.6	-	25	1858	c.1700C>T	c.(1699-1701)gCa>gTa	p.A567V	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.A324V|COL9A1_ENST00000370499.4_Missense_Mutation_p.A324V	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	567	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTGCAATCCTGCATCACCAGG	0.383													A	70964198	G	A	70964198	3	1	364	1	0	0	0	0	1	0	0	0	3738	1319	46	2	1121	2	COL9A1	6	70964198	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19900	70964198	100150869	5431	28933											
COL9A1	1297	broad.mit.edu	37	chr6	70984468	70984468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggatccatcaggtcctGttaatccctaatagagcaag	12	9	10	10	0	1	1	1	0	0	1	4	2	4	2	3	3	1	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:70984468G>A	ENST00000357250.6	-	11	1141	c.983C>T	c.(982-984)aCa>aTa	p.T328I	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000320755.7_Missense_Mutation_p.T85I|COL9A1_ENST00000370499.4_Missense_Mutation_p.T85I	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	328	Triple-helical region (COL3).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						ATCAGGTCCTGTTAATCCCTA	0.358													A	70984468	G	A	70984468	3	1	364	1	0	0	0	0	1	0	0	0	3738	1377	48	2	1894	2	COL9A1	6	70984468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20270	70984468	100130599	5432	28934											
COL9A1	1297	broad.mit.edu	37	chr6	71003927	71003927	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagcaaagccatcaatGtcaattgggcctcttggctt	11	10	9	11	0	3	0	2	0	1	0	3	0	3	0	2	2	3	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71003927G>A	ENST00000357250.6	-	5	797	c.639C>T	c.(637-639)gaC>gaT	p.D213D	COL9A1_ENST00000370496.3_Silent_p.D213D	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	213	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						AGCCATCAATGTCAATTGGGC	0.408													A	71003927	G	A	71003927	2	1	364	1	0	0	0	0	0	0	0	1	3738	1368	48	2		2	COL9A1	6	71003927	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19459	71003927	100111140	5433	28935											
FAM135A	57579	broad.mit.edu	37	chr6	71234659	71234659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgatatctcccaggacgaTagtgaaattacacaaatgga	15	10	8	8	1	1	2	0	2	1	0	2	5	1	4	1	2	1	0	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71234659T>C	ENST00000418814.2	+	15	2486	c.1872T>C	c.(1870-1872)gaT>gaC	p.D624D	FAM135A_ENST00000361499.3_Silent_p.D428D|FAM135A_ENST00000505769.1_Silent_p.D428D|FAM135A_ENST00000505868.1_Silent_p.D624D|FAM135A_ENST00000457062.2_Silent_p.D411D|FAM135A_ENST00000370479.3_Silent_p.D411D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	624										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CCCAGGACGATAGTGAAATTA	0.398													C	71234659	T	C	71234659	2	2	364	1	0	0	0	0	0	0	0	1	5493	1403	49	3		3	FAM135A	6	71234659	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	230732	71234659	99880408	5434	28936											
FAM135A	57579	broad.mit.edu	37	chr6	71236045	71236045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggataaagaggatgaGgaggaagagcaggatcaaca	19	3	15	4	0	1	3	1	1	0	2	1	9	1	8	0	5	3	1	0	5	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71236045G>T	ENST00000418814.2	+	15	3872	c.3258G>T	c.(3256-3258)gaG>gaT	p.E1086D	FAM135A_ENST00000361499.3_Missense_Mutation_p.E890D|FAM135A_ENST00000505769.1_Missense_Mutation_p.E666D|FAM135A_ENST00000505868.1_Missense_Mutation_p.E1086D|FAM135A_ENST00000457062.2_Missense_Mutation_p.E873D|FAM135A_ENST00000370479.3_Missense_Mutation_p.E873D	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	1086										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						AAGAGGATGAGGAGGAAGAGC	0.393													T	71236045	G	T	71236045	3	4	364	1	0	0	0	0	1	0	0	0	5493	991	35	4	3386	4	FAM135A	6	71236045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1386	71236045	99879022	5435	28937											
SMAP1	60682	broad.mit.edu	37	chr6	71562252	71562252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcttttcagatggccctgCtgtggcaccagtgaccaacg	8	11	10	12	1	2	2	1	1	1	1	2	2	2	2	3	2	2	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:71562252C>A	ENST00000370455.3	+	8	922	c.674C>A	c.(673-675)gCt>gAt	p.A225D	SMAP1_ENST00000370452.3_Missense_Mutation_p.A198D|SMAP1_ENST00000316999.5_Missense_Mutation_p.A198D	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	225					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						GATGGCCCTGCTGTGGCACCA	0.398													A	71562252	C	A	71562252	3	1	364	1	0	0	0	0	1	0	0	0	14860	797	28	4	704	4	SMAP1	6	71562252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326207	71562252	99552815	5436	28938											
RIMS1	22999	broad.mit.edu	37	chr6	72945373	72945373	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccgattaattggacgtgTtattcttaacaagagaacaa	15	11	9	6	2	1	1	0	0	1	1	1	5	1	3	1	2	2	1	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:72945373T>G	ENST00000264839.7	+	8	1799	c.1799T>G	c.(1798-1800)gTt>gGt	p.V600G	RIMS1_ENST00000517960.1_Missense_Mutation_p.V600G|RIMS1_ENST00000520567.1_Missense_Mutation_p.V600G|RIMS1_ENST00000517827.1_Missense_Mutation_p.V59G|RIMS1_ENST00000425662.2_5'UTR|RIMS1_ENST00000521978.1_Missense_Mutation_p.V600G|RIMS1_ENST00000401910.3_Missense_Mutation_p.V74G|RIMS1_ENST00000522291.1_Missense_Mutation_p.V600G|RIMS1_ENST00000523963.1_Missense_Mutation_p.V74G|RIMS1_ENST00000348717.5_Missense_Mutation_p.V600G|RIMS1_ENST00000491071.2_Missense_Mutation_p.V600G|RIMS1_ENST00000518273.1_Missense_Mutation_p.V600G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	600					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				ATTGGACGTGTTATTCTTAAC	0.368													G	72945373	T	G	72945373	3	3	364	1	0	0	0	0	1	0	0	0	13458	1725	60	5	1992	5	RIMS1	6	72945373	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1383121	72945373	98169694	5437	28939											
RIMS1	22999	broad.mit.edu	37	chr6	73110297	73110297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgtccagcatggtgatcGgatggtacaaattgttccca	10	11	10	10	1	0	1	0	1	0	0	3	2	2	2	3	3	2	3	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73110297G>A	ENST00000264839.7	+	30	4507	c.4507G>A	c.(4507-4509)Gga>Aga	p.G1503R	RIMS1_ENST00000517960.1_Missense_Mutation_p.G1437R|RIMS1_ENST00000520567.1_Missense_Mutation_p.G1304R|RIMS1_ENST00000517827.1_Missense_Mutation_p.G788R|RIMS1_ENST00000425662.2_Missense_Mutation_p.G722R|RIMS1_ENST00000521978.1_Missense_Mutation_p.G1654R|RIMS1_ENST00000401910.3_Missense_Mutation_p.G974R|RIMS1_ENST00000522291.1_Missense_Mutation_p.G1253R|RIMS1_ENST00000523963.1_Missense_Mutation_p.G779R|RIMS1_ENST00000348717.5_Missense_Mutation_p.G1437R|RIMS1_ENST00000538414.1_Missense_Mutation_p.G460R|RIMS1_ENST00000491071.2_Missense_Mutation_p.G1443R|RIMS1_ENST00000431478.2_3'UTR|RIMS1_ENST00000518273.1_Missense_Mutation_p.G1333R|RIMS1_ENST00000414192.2_Missense_Mutation_p.G181R			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	1654					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CATGGTGATCGGATGGTACAA	0.542													A	73110297	G	A	73110297	3	1	364	1	0	0	0	0	1	0	0	0	13458	1117	39	1	5257	1	RIMS1	6	73110297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164924	73110297	98004770	5438	28940											
KCNQ5	56479	broad.mit.edu	37	chr6	73713638	73713638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgttttacagttttctcCttgtctttggttgcttgatt	3	24	8	6	0	2	1	0	1	2	0	3	1	2	1	1	1	2	5	1	1	1	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73713638C>A	ENST00000342056.2	+	2	804	c.406C>A	c.(406-408)Ctt>Att	p.L136I	KCNQ5_ENST00000403813.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355194.4_Splice_Site|KCNQ5_ENST00000414165.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000355635.3_Missense_Mutation_p.L136I|KCNQ5_ENST00000370398.1_Missense_Mutation_p.L136I|KCNQ5_ENST00000402622.2_Missense_Mutation_p.L136I|KCNQ5_ENST00000370392.1_Missense_Mutation_p.L136I	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	136					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity	p.L136I(1)		breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		CAGTTTTCTCCTTGTCTTTGG	0.378													A	73713638	C	A	73713638	3	1	364	1	0	0	0	0	1	0	0	0	8144	681	24	4	412	4	KCNQ5	6	73713638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	603341	73713638	97401429	5439	28941											
KCNQ5	56479	broad.mit.edu	37	chr6	73904319	73904319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgactatcaaagccctGtggatagcaaagatctttcg	12	11	8	10	1	3	2	1	1	2	1	4	3	3	3	1	1	2	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73904319G>A	ENST00000342056.2	+	15	2436	c.2038G>A	c.(2038-2040)Gtg>Atg	p.V680M	KCNQ5_ENST00000403813.2_Missense_Mutation_p.V652M|KCNQ5_ENST00000355194.4_Missense_Mutation_p.V661M|KCNQ5_ENST00000414165.2_Missense_Mutation_p.V551M|KCNQ5_ENST00000355635.3_Missense_Mutation_p.V662M|KCNQ5_ENST00000370398.1_Missense_Mutation_p.V661M|KCNQ5_ENST00000402622.2_Missense_Mutation_p.V671M	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	661					protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		TCAAAGCCCTGTGGATAGCAA	0.502													A	73904319	G	A	73904319	3	1	364	1	0	0	0	0	1	0	0	0	8144	1377	48	2	2096	2	KCNQ5	6	73904319	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190681	73904319	97210748	5440	28942											
KCNQ5	56479	broad.mit.edu	37	chr6	73905007	73905007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacttttgatgccgcacCgcagcctgccagggaagctg	9	7	12	13	2	0	2	0	1	0	1	0	3	0	3	4	1	4	3	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73905007C>T	ENST00000342056.2	+	15	3124	c.2726C>T	c.(2725-2727)cCg>cTg	p.P909L	KCNQ5_ENST00000403813.2_Missense_Mutation_p.P881L|KCNQ5_ENST00000355194.4_Missense_Mutation_p.P890L|KCNQ5_ENST00000414165.2_Missense_Mutation_p.P780L|KCNQ5_ENST00000355635.3_Missense_Mutation_p.P891L|KCNQ5_ENST00000370398.1_Missense_Mutation_p.P890L|KCNQ5_ENST00000402622.2_Missense_Mutation_p.P900L	NM_001160132.1|NM_001160133.1	NP_001153604.1|NP_001153605.1	Q9NR82	KCNQ5_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 5	890				R -> Q (in Ref. 6; AAF73446).	protein complex assembly|synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(1)|cervix(1)|endometrium(6)|kidney(7)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	57		all_epithelial(107;0.116)|Lung NSC(302;0.219)		COAD - Colon adenocarcinoma(1;0.0107)|Colorectal(1;0.0583)		GATGCCGCACCGCAGCCTGCC	0.488													T	73905007	C	T	73905007	3	4	364	1	0	0	0	0	1	0	0	0	8144	652	23	1	2784	1	KCNQ5	6	73905007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	688	73905007	97210060	5441	28943											
KHDC1	80759	broad.mit.edu	37	chr6	73951801	73951801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatgatgataggagtccTggctccccacacaacaaaac	14	6	9	12	0	0	2	0	2	0	0	2	4	2	3	3	2	3	2	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73951801T>C	ENST00000423730.3	-	3	707	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	KHDC1_ENST00000257765.5_Missense_Mutation_p.Q91R|KHDC1_ENST00000370384.3_Missense_Mutation_p.Q164R																							ATAGGAGTCCTGGCTCCCCAC	0.517													C	73951801	T	C	73951801	3	2	364	1	0	0	0	0	1	0	0	0	8202	1580	55	3	230	3	KHDC1	6	73951801	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46794	73951801	97163266	5442	28944											
KHDC1	80759	broad.mit.edu	37	chr6	73952237	73952237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagagcactcgttcccatgtCcatgctctgctccgacctga	7	10	9	15	2	1	2	0	1	1	1	5	4	4	2	4	0	3	4	4	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:73952237C>T	ENST00000423730.3	-	2	439	c.4G>A	c.(4-6)Gac>Aac	p.D2N	KHDC1_ENST00000257765.5_Missense_Mutation_p.D2N|KHDC1_ENST00000370384.3_Missense_Mutation_p.D75N																							GTTCCCATGTCCATGCTCTGC	0.527													T	73952237	C	T	73952237	3	4	364	1	0	0	0	0	1	0	0	0	8202	855	30	2	502	2	KHDC1	6	73952237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	436	73952237	97162830	5443	28945											
OOEP	441161	broad.mit.edu	37	chr6	74104640	74104640	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaacaatgtcccaccaCggaggagctcccaaggcctc	10	6	10	15	1	0	0	0	0	0	0	3	3	2	3	4	4	2	1	4	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104640C>T	ENST00000370363.1	-	0	176				DDX43_ENST00000370336.4_Silent_p.H4H|DDX43_ENST00000539829.1_Silent_p.H4H			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm		p.H4H(1)		large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						TGTCCCACCACGGAGGAGCTC	0.632													T	74104640	C	T	74104640	1	4	364	1	0	0	0	0	0	0	0	0	10946	535	19	1		1	OOEP	6	74104640	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152403	74104640	97010427	5444	28946											
DDX43	55510	broad.mit.edu	37	chr6	74104764	74104764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgagggatatagtgtcGgcagaggtggtcgctggaga	8	9	18	6	2	0	3	0	1	0	2	3	5	1	4	1	5	0	2	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74104764G>A	ENST00000370336.4	+	1	294	c.136G>A	c.(136-138)Ggc>Agc	p.G46S	OOEP_ENST00000370363.1_5'UTR|DDX43_ENST00000539829.1_Missense_Mutation_p.G46S	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	46						intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						ATATAGTGTCGGCAGAGGTGG	0.622											OREG0003900	type=REGULATORY REGION|Gene=BC024931|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	74104764	G	A	74104764	3	1	364	1	0	0	0	0	1	0	0	0	4397	1116	39	1	138	1	DDX43	6	74104764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124	74104764	97010303	5445	28947											
DDX43	55510	broad.mit.edu	37	chr6	74123458	74123458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgcaaacttttctacaGagtatgtcatccacagacaa	15	10	5	11	0	2	2	1	0	1	2	3	2	3	2	1	0	3	2	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74123458G>T	ENST00000370336.4	+	12	1604	c.1446G>T	c.(1444-1446)caG>caT	p.Q482H	MB21D1_ENST00000370318.1_3'UTR|DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	482	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CTTTTCTACAGAGTATGTCAT	0.343													T	74123458	G	T	74123458	3	4	364	1	0	0	0	0	1	0	0	0	4397	933	33	4	1492	4	DDX43	6	74123458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18694	74123458	96991609	5446	28948											
EEF1A1	1915	broad.mit.edu	37	chr6	74229613	74229613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattaaacatacctcagcaGcctccttctcaaatttttca	12	14	3	12	0	3	0	3	0	1	0	5	0	4	0	3	0	4	2	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74229613G>T	ENST00000316292.9	-	1	1128	c.137C>A	c.(136-138)gCt>gAt	p.A46D	EEF1A1_ENST00000309268.6_Missense_Mutation_p.A46D|EEF1A1_ENST00000331523.2_Missense_Mutation_p.A46D	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	46						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						TACCTCAGCAGCCTCCTTCTC	0.418													T	74229613	G	T	74229613	3	4	364	1	0	0	0	0	1	0	0	0	4962	971	34	4	1279	4	EEF1A1	6	74229613	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106155	74229613	96885454	5447	28949											
SLC17A5	26503	broad.mit.edu	37	chr6	74304812	74304812	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttccttcagtgtctgtgTccatggtgatcattgagagc	6	15	12	8	0	3	2	2	2	1	1	5	3	5	2	2	2	1	1	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74304812T>C	ENST00000355773.5	-	11	1744	c.1476A>G	c.(1474-1476)ggA>ggG	p.G492G		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	492					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGTCTGTGTCCATGGTGAT	0.358													C	74304812	T	C	74304812	2	2	364	1	0	0	0	0	0	0	0	1	14514	1654	58	3		3	SLC17A5	6	74304812	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75199	74304812	96810255	5448	28950											
CD109	135228	broad.mit.edu	37	chr6	74468752	74468752	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatggtaccatcacggcaaaGtaagtgtcatttttcttttg	11	15	8	7	1	3	0	2	0	1	0	3	0	3	0	1	2	1	3	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74468752G>T	ENST00000437994.2	+	7	1189		c.e7+1		CD109_ENST00000422508.2_Splice_Site|CD109_ENST00000287097.5_Splice_Site	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule							anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TCACGGCAAAGTAAGTGTCAT	0.313													T	74468752	G	T	74468752	5	4	364	1	0	0	0	0	0	0	1	0	2993	1043	36	4	785	4	CD109	6	74468752	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163940	74468752	96646315	5449	28951											
CD109	135228	broad.mit.edu	37	chr6	74517834	74517835	+	Frame_Shift_Ins	INS	-	-	T																															gatgtgcaagagtctatccaINSttttttggagtctgaattca																								rs35580099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74517834_74517835insT	ENST00000437994.2	+	26	3649_3650	c.3218_3219insT	c.(3217-3222)cattttfs	p.HF1073fs	CD109_ENST00000422508.2_Frame_Shift_Ins_p.HF996fs|CD109_ENST00000287097.5_Frame_Shift_Ins_p.HF1073fs	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	1073						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGTCTATCCATTTTTTGGAGT	0.356													T	74517835	-	T	74517834	7	5	364	1	0	1	1	0	0	0	0	0	2993	217	8	0	3320	0	CD109	6	74517834	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	49082	74517834	96597233	5450	28952											
CD109	135228	broad.mit.edu	37	chr6	74520848	74520848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgattgacacacacaaccGcttactccttcagacagcag	12	9	6	14	1	2	3	1	2	1	1	3	3	3	3	2	0	3	2	2	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:74520848G>A	ENST00000422508.2	+	27	3880	c.3449G>A	c.(3448-3450)cGc>cAc	p.R1150H	CD109_ENST00000287097.5_Missense_Mutation_p.R1227H|CD109_ENST00000437994.2_Intron	NM_001159588.1	NP_001153060.1	Q6YHK3	CD109_HUMAN	CD109 molecule	1227						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity	p.R1227L(1)		NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACACACAACCGCTTACTCCTT	0.428													A	74520848	G	A	74520848	3	1	364	1	0	0	0	0	1	0	0	0	2993	1087	38	1	3790	1	CD109	6	74520848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3014	74520848	96594219	5451	28953											
COL12A1	1303	broad.mit.edu	37	chr6	75797421	75797421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccagggggacctcttgaaCctgtggaccctggtggacct	6	8	15	12	0	1	1	0	1	1	0	1	4	1	4	5	6	1	0	5	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75797421C>T	ENST00000322507.8	-	65	9362	c.9053G>A	c.(9052-9054)gGt>gAt	p.G3018D	COL12A1_ENST00000483888.2_Missense_Mutation_p.G3014D|COL12A1_ENST00000345356.6_Missense_Mutation_p.G1854D|COL12A1_ENST00000416123.2_Missense_Mutation_p.G2942D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	3018	Triple-helical region (COL1) with 2 imperfections.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACCTCTTGAACCTGTGGACCC	0.532													T	75797421	C	T	75797421	3	4	364	1	0	0	0	0	1	0	0	0	3700	507	18	2	146	2	COL12A1	6	75797421	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1276573	75797421	95317646	5452	28954											
COL12A1	1303	broad.mit.edu	37	chr6	75843580	75843580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaataattaccagttcCtctggaccacctgctgctgg	11	10	8	12	0	1	1	0	0	1	1	2	2	2	2	4	2	3	3	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75843580C>A	ENST00000322507.8	-	33	5967	c.5658G>T	c.(5656-5658)gaG>gaT	p.E1886D	COL12A1_ENST00000483888.2_Missense_Mutation_p.E1886D|COL12A1_ENST00000345356.6_Missense_Mutation_p.E722D|COL12A1_ENST00000416123.2_Missense_Mutation_p.E1886D	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1886	Fibronectin type-III 14.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTACCAGTTCCTCTGGACCAC	0.433													A	75843580	C	A	75843580	3	1	364	1	0	0	0	0	1	0	0	0	3700	680	24	4	3669	4	COL12A1	6	75843580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46159	75843580	95271487	5453	28955											
COL12A1	1303	broad.mit.edu	37	chr6	75844497	75844497	+	Silent	SNP	T	T	C																															ccatcaggatacagagaggaTacggtgatagtgtaaggagt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844497T>C	ENST00000322507.8	-	32	5778	c.5469A>G	c.(5467-5469)gtA>gtG	p.V1823V	COL12A1_ENST00000483888.2_Silent_p.V1823V|COL12A1_ENST00000345356.6_Silent_p.V659V|COL12A1_ENST00000416123.2_Silent_p.V1823V	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						ACAGAGAGGATACGGTGATAG	0.463													C	75844497	T	C	75844497	2	2	364	1	0	0	0	0	0	0	0	1	3700	1393	49	3		3	COL12A1	6	75844497	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	917	75844497	95270570	5454	28956	67	2									
COL12A1	1303	broad.mit.edu	37	chr6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T																															atcaggatacagagaggataCggtgatagtgtaaggagtgt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I|COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468													T	75844499	C	T	75844499	3	4	364	1	0	0	0	0	1	0	0	0	3700	536	19	1	3864	1	COL12A1	6	75844499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2	75844499	95270568	5455	28957	67	2									
COL12A1	1303	broad.mit.edu	37	chr6	75875447	75875447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtccaataagccccaattGatgtgtcagtgatgtcttta	11	14	8	8	0	2	2	1	2	1	0	3	2	3	2	3	0	1	0	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75875447G>A	ENST00000322507.8	-	14	3068	c.2759C>T	c.(2758-2760)tCa>tTa	p.S920L	COL12A1_ENST00000483888.2_Missense_Mutation_p.S920L|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.S920L	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	920	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	p.S920L(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGCCCCAATTGATGTGTCAGT	0.378													A	75875447	G	A	75875447	3	1	364	1	0	0	0	0	1	0	0	0	3700	1294	45	2	6644	2	COL12A1	6	75875447	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30948	75875447	95239620	5456	28958											
COL12A1	1303	broad.mit.edu	37	chr6	75893332	75893332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagccatcaaccaaaaacAcaatatcggcttttatatcc	16	9	5	11	1	1	0	1	0	0	0	3	1	2	1	3	2	3	1	3	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:75893332A>G	ENST00000322507.8	-	10	1634	c.1325T>C	c.(1324-1326)gTg>gCg	p.V442A	COL12A1_ENST00000483888.2_Missense_Mutation_p.V442A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.V442A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	442	VWFA 2.			IV -> M (in Ref. 4; AAC01506).	cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AACCAAAAACACAATATCGGC	0.299													G	75893332	A	G	75893332	3	3	364	1	0	0	0	0	1	0	0	0	3700	159	6	3	8094	3	COL12A1	6	75893332	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17885	75893332	95221735	5457	28959											
SENP6	26054	broad.mit.edu	37	chr6	76343307	76343307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttttacagttaaatcgtcGatctgaaattgttgctaata	12	18	6	5	2	1	1	0	1	1	0	3	2	1	1	0	0	2	3	0	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343307G>A	ENST00000370014.3	+	4	837	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	SENP6_ENST00000370010.2_Missense_Mutation_p.R73Q|SENP6_ENST00000447266.2_Missense_Mutation_p.R73Q|SENP6_ENST00000327284.8_Missense_Mutation_p.R73Q	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	73					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				TTAAATCGTCGATCTGAAATT	0.299													A	76343307	G	A	76343307	3	1	364	1	0	0	0	0	1	0	0	0	14143	1058	37	1	232	1	SENP6	6	76343307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	449975	76343307	94771760	5458	28960											
SENP6	26054	broad.mit.edu	37	chr6	76343439	76343439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagcaacaataagaaatTgaggtataggcacttcacca	16	9	9	7	0	1	3	1	2	0	1	1	3	1	3	1	2	2	4	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76343439T>C	ENST00000370014.3	+	4	969	c.350T>C	c.(349-351)tTg>tCg	p.L117S	SENP6_ENST00000370010.2_Missense_Mutation_p.L117S|SENP6_ENST00000447266.2_Missense_Mutation_p.L117S|SENP6_ENST00000327284.8_Missense_Mutation_p.L117S	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	117					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				AATAAGAAATTGAGGTATAGG	0.358													C	76343439	T	C	76343439	3	2	364	1	0	0	0	0	1	0	0	0	14143	1821	63	3	364	3	SENP6	6	76343439	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	132	76343439	94771628	5459	28961											
SENP6	26054	broad.mit.edu	37	chr6	76385598	76385598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaccatgatcctgtagaGattatattaaatacctctga	14	12	6	9	0	1	4	0	2	1	2	2	5	2	4	4	0	1	1	4	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76385598G>T	ENST00000370014.3	+	13	2068	c.1449G>T	c.(1447-1449)gaG>gaT	p.E483D	SENP6_ENST00000370010.2_Missense_Mutation_p.E476D|SENP6_ENST00000447266.2_Missense_Mutation_p.E483D|SENP6_ENST00000541192.1_Missense_Mutation_p.E79D|SENP6_ENST00000327284.8_Missense_Mutation_p.E476D	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	483					proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCCTGTAGAGATTATATTAA	0.343													T	76385598	G	T	76385598	3	4	364	1	0	0	0	0	1	0	0	0	14143	933	33	4	1499	4	SENP6	6	76385598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42159	76385598	94729469	5460	28962											
SENP6	26054	broad.mit.edu	37	chr6	76412676	76412676	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaaaataaatcatactgcGagtgaaaatgaagaattcaa	23	8	6	4	1	2	3	2	2	0	1	2	4	2	3	0	0	2	0	0	0	11	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76412676G>A	ENST00000370014.3	+	19	3223	c.2604G>A	c.(2602-2604)gcG>gcA	p.A868A	SENP6_ENST00000370010.2_Silent_p.A861A|SENP6_ENST00000447266.2_Silent_p.A868A|SENP6_ENST00000541192.1_Intron	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	868	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ATCATACTGCGAGTGAAAATG	0.358													A	76412676	G	A	76412676	2	1	364	1	0	0	0	0	0	0	0	1	14143	1045	37	1		1	SENP6	6	76412676	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27078	76412676	94702391	5461	28963											
MYO6	4646	broad.mit.edu	37	chr6	76582984	76582984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagccaccactttgaaGgtgctcaaattctgtctcag	11	11	8	11	0	3	2	2	2	2	0	4	2	3	2	2	1	2	1	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76582984G>A	ENST00000369981.3	+	20	2323	c.2044G>A	c.(2044-2046)Ggt>Agt	p.G682S	MYO6_ENST00000369985.4_Missense_Mutation_p.G682S|MYO6_ENST00000369977.3_Missense_Mutation_p.G682S|MYO6_ENST00000462633.1_3'UTR|MYO6_ENST00000369975.1_Missense_Mutation_p.G682S			Q9UM54	MYO6_HUMAN	myosin VI	682	Myosin head-like.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		CCACTTTGAAGGTGCTCAAAT	0.358													A	76582984	G	A	76582984	3	1	364	1	0	0	0	0	1	0	0	0	10157	1000	35	2	2118	2	MYO6	6	76582984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170308	76582984	94532083	5462	28964											
MYO6	4646	broad.mit.edu	37	chr6	76618317	76618317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaatactgaaacagagcaaCgtgctccaaagtctgttact	15	9	8	9	1	1	2	0	1	1	1	2	3	2	2	1	0	6	3	1	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76618317C>T	ENST00000369981.3	+	33	3694	c.3415C>T	c.(3415-3417)Cgt>Tgt	p.R1139C	MYO6_ENST00000369985.4_Missense_Mutation_p.R1106C|MYO6_ENST00000369977.3_Missense_Mutation_p.R1129C|MYO6_ENST00000369975.1_Missense_Mutation_p.R1106C			Q9UM54	MYO6_HUMAN	myosin VI	1138					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		AACAGAGCAACGTGCTCCAAA	0.343													T	76618317	C	T	76618317	3	4	364	1	0	0	0	0	1	0	0	0	10157	536	19	1	3507	1	MYO6	6	76618317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35333	76618317	94496750	5463	28965											
IMPG1	3617	broad.mit.edu	37	chr6	76715175	76715175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttggaatcaaaagacaggaGgtcacttgcagggctttttg	11	11	13	6	0	2	1	2	0	0	1	2	3	2	3	0	4	1	3	0	4	3	4	rs140525637	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:76715175G>T	ENST00000369950.3	-	10	1153	c.964C>A	c.(964-966)Ctc>Atc	p.L322I	IMPG1_ENST00000369963.3_3'UTR	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2	Q17R60	IMPG1_HUMAN	interphotoreceptor matrix proteoglycan 1	322	SEA 1.				visual perception	proteinaceous extracellular matrix	extracellular matrix structural constituent|receptor activity			breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				AAAGACAGGAGGTCACTTGCA	0.453													T	76715175	G	T	76715175	3	4	364	1	0	0	0	0	1	0	0	0	7786	1000	35	4	1461	4	IMPG1	6	76715175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96858	76715175	94399892	5464	28966											
PHIP	55023	broad.mit.edu	37	chr6	79650991	79650991	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaagttttgatggctgtcCtccatggccatttacttgaa	9	14	8	10	0	0	2	0	2	0	0	2	2	2	2	3	2	1	2	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79650991C>A	ENST00000275034.4	-	40	5052	c.4885G>T	c.(4885-4887)Gga>Tga	p.G1629*	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1629					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		GATGGCTGTCCTCCATGGCCA	0.383													A	79650991	C	A	79650991	4	1	364	1	0	0	0	0	0	1	0	0	11919	690	24	4	584	4	PHIP	6	79650991	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2935816	79650991	91464076	5465	28967											
PHIP	55023	broad.mit.edu	37	chr6	79655810	79655810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcagtgacaactggatctAcaaccactcggttgcttctg	9	11	9	12	1	3	1	1	1	2	0	4	2	3	2	1	2	4	3	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79655810A>G	ENST00000275034.4	-	38	4705	c.4538T>C	c.(4537-4539)gTa>gCa	p.V1513A	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1513					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		AACTGGATCTACAACCACTCG	0.423													G	79655810	A	G	79655810	3	3	364	1	0	0	0	0	1	0	0	0	11919	391	14	3	939	3	PHIP	6	79655810	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4819	79655810	91459257	5466	28968											
PHIP	55023	broad.mit.edu	37	chr6	79657341	79657341	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataatgtaattatataccCttgatcttttgcttggtgta	12	18	6	5	0	1	1	0	1	1	0	1	1	1	1	1	1	2	3	1	1	7	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79657341C>A	ENST00000275034.4	-	36	4372	c.4205G>T	c.(4204-4206)aGg>aTg	p.R1402M	PHIP_ENST00000479165.1_5'UTR	NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	1402	Bromo 2.				insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATTATATACCCTTGATCTTTT	0.303													A	79657341	C	A	79657341	5	1	364	1	0	0	0	0	0	0	1	0	11919	695	24	4	1280	4	PHIP	6	79657341	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1531	79657341	91457726	5467	28969											
PHIP	55023	broad.mit.edu	37	chr6	79700587	79700587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaataattaatatgtacctTtgagacagtgggtattttat	15	16	7	3	0	0	1	0	1	0	1	0	2	0	1	1	1	1	2	1	1	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:79700587T>C	ENST00000275034.4	-	20	2484	c.2317A>G	c.(2317-2319)Aag>Gag	p.K773E		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	773					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		ATATGTACCTTTGAGACAGTG	0.303													C	79700587	T	C	79700587	3	2	364	1	0	0	0	0	1	0	0	0	11919	1850	64	3	3232	3	PHIP	6	79700587	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43246	79700587	91414480	5468	28970											
LCA5	167691	broad.mit.edu	37	chr6	80196729	80196729	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctagtcagtcatctcaGtgctacttcttcaatttcat	9	17	4	11	0	7	0	5	0	3	0	8	0	7	0	0	0	3	1	0	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80196729G>A	ENST00000392959.1	-	9	2697	c.2086C>T	c.(2086-2088)Ctg>Ttg	p.L696L	LCA5_ENST00000369846.4_Silent_p.L696L	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	696					protein transport	cilium axoneme|microtubule basal body	protein binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		AGTCATCTCAGTGCTACTTCT	0.279													A	80196729	G	A	80196729	2	1	364	1	0	0	0	0	0	0	0	1	8715	1020	36	2		2	LCA5	6	80196729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	496142	80196729	90918338	5469	28971											
LCA5	167691	broad.mit.edu	37	chr6	80197018	80197018	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcaaattagcttttttCtcttttcttgtaattaaatc	10	21	2	8	0	3	0	1	0	2	0	6	0	4	0	1	0	1	2	1	0	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80197018C>A	ENST00000392959.1	-	9	2408	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	LCA5_ENST00000369846.4_Missense_Mutation_p.E599D	NM_181714.3	NP_859065.2	Q86VQ0	LCA5_HUMAN	Leber congenital amaurosis 5	599					protein transport	cilium axoneme|microtubule basal body	protein binding	p.E599D(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	32		all_cancers(76;3.32e-05)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.0176)		BRCA - Breast invasive adenocarcinoma(397;0.0657)		TAGCTTTTTTCTCTTTTCTTG	0.358													A	80197018	C	A	80197018	3	1	364	1	0	0	0	0	1	0	0	0	8715	912	32	4	300	4	LCA5	6	80197018	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	289	80197018	90918049	5470	28972											
TTK	7272	broad.mit.edu	37	chr6	80717747	80717747	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatttgctgaattaaaaGcgtaagtattagcattttaa	15	15	8	3	1	0	2	0	2	0	1	0	3	0	2	0	0	3	4	0	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80717747G>T	ENST00000509894.1	+	3	1190	c.361G>T	c.(361-363)Gct>Tct	p.A121S	TTK_ENST00000230510.3_Splice_Site_p.A121S|TTK_ENST00000369798.2_Splice_Site_p.A121S			P33981	TTK_HUMAN	TTK protein kinase	121					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TGAATTAAAAGCGTAAGTATT	0.333													T	80717747	G	T	80717747	5	4	364	1	0	0	0	0	0	0	1	0	16822	985	34	4	367	4	TTK	6	80717747	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	520729	80717747	90397320	5471	28973											
TTK	7272	broad.mit.edu	37	chr6	80744846	80744846	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacacagtgataagatcatcCgactttatgattagtaagaa	17	11	7	6	1	1	4	1	2	0	2	2	5	2	4	1	0	1	1	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:80744846C>T	ENST00000509894.1	+	15	2585	c.1756C>T	c.(1756-1758)Cga>Tga	p.R586*	TTK_ENST00000369798.2_Nonsense_Mutation_p.R587*|TTK_ENST00000230510.3_Nonsense_Mutation_p.R586*			P33981	TTK_HUMAN	TTK protein kinase	587	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TAAGATCATCCGACTTTATGA	0.279													T	80744846	C	T	80744846	4	4	364	1	0	0	0	0	0	1	0	0	16822	644	23	1	1813	1	TTK	6	80744846	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27099	80744846	90370221	5472	28974											
FAM46A	55603	broad.mit.edu	37	chr6	82459934	82459934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtgatcaaaggcttcCtggaaatcgccatagacgct	13	8	10	10	2	1	2	1	1	0	1	3	3	2	3	2	3	0	2	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82459934C>A	ENST00000369754.3	-	3	1176	c.864G>T	c.(862-864)caG>caT	p.Q288H	FAM46A_ENST00000320172.6_Missense_Mutation_p.Q269H|FAM46A_ENST00000369756.3_Missense_Mutation_p.Q350H			Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	269										endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		CAAAGGCTTCCTGGAAATCGC	0.478													A	82459934	C	A	82459934	3	1	364	1	0	0	0	0	1	0	0	0	5616	680	24	4	525	4	FAM46A	6	82459934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1715088	82459934	88655133	5473	28975											
IBTK	25998	broad.mit.edu	37	chr6	82883084	82883084	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttatcaattaaccttacTtgggactgtctagaagtggt	12	14	8	7	0	2	1	1	0	1	1	2	2	2	2	1	2	3	0	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883084T>C	ENST00000306270.7	-	27	4346	c.3797A>G	c.(3796-3798)aAt>aGt	p.N1266S	IBTK_ENST00000510291.1_Splice_Site_p.N1251S|IBTK_ENST00000503631.1_Splice_Site_p.N1065S	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1266					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TTAACCTTACTTGGGACTGTC	0.423													C	82883084	T	C	82883084	5	2	364	1	0	0	0	0	0	0	1	0	7534	1623	56	3	276	3	IBTK	6	82883084	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	423150	82883084	88231983	5474	28976											
IBTK	25998	broad.mit.edu	37	chr6	82883097	82883097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttacttgggactgtctaGaagtggtaaatctgaaatat	13	13	9	6	0	2	2	0	1	2	1	2	3	2	3	1	2	1	1	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82883097G>T	ENST00000306270.7	-	27	4333	c.3784C>A	c.(3784-3786)Cta>Ata	p.L1262I	IBTK_ENST00000510291.1_Missense_Mutation_p.L1247I|IBTK_ENST00000503631.1_Missense_Mutation_p.L1061I	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	1262					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGACTGTCTAGAAGTGGTAAA	0.413													T	82883097	G	T	82883097	3	4	364	1	0	0	0	0	1	0	0	0	7534	933	33	4	289	4	IBTK	6	82883097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	82883097	88231970	5475	28977											
IBTK	25998	broad.mit.edu	37	chr6	82912354	82912354	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtagcatagcagcattctTcagggtaactacaaagaaag	16	8	9	8	0	2	1	1	0	1	1	2	1	2	1	0	1	5	5	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82912354T>G	ENST00000306270.7	-	18	3169	c.2620A>C	c.(2620-2622)Aag>Cag	p.K874Q	IBTK_ENST00000510291.1_Missense_Mutation_p.K874Q|IBTK_ENST00000503631.1_Missense_Mutation_p.K673Q	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	874					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GCAGCATTCTTCAGGGTAACT	0.328													G	82912354	T	G	82912354	3	3	364	1	0	0	0	0	1	0	0	0	7534	1792	62	5	1489	5	IBTK	6	82912354	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29257	82912354	88202713	5476	28978											
IBTK	25998	broad.mit.edu	37	chr6	82925825	82925825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgactgcaggattgcaaaGttgcatccacttggatctgt	9	13	10	9	0	2	1	0	1	2	0	3	3	3	3	1	2	3	4	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82925825G>T	ENST00000306270.7	-	11	2118	c.1569C>A	c.(1567-1569)aaC>aaA	p.N523K	IBTK_ENST00000510291.1_Missense_Mutation_p.N523K|IBTK_ENST00000503631.1_Missense_Mutation_p.N523K	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	523					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		GGATTGCAAAGTTGCATCCAC	0.338													T	82925825	G	T	82925825	3	4	364	1	0	0	0	0	1	0	0	0	7534	1020	36	4	2568	4	IBTK	6	82925825	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13471	82925825	88189242	5477	28979											
IBTK	25998	broad.mit.edu	37	chr6	82933169	82933169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacatacttagaagccatcTtcttgcactgatagtctgca	12	12	6	11	0	3	2	0	1	3	1	3	2	3	2	1	0	4	2	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:82933169T>C	ENST00000306270.7	-	8	1661	c.1112A>G	c.(1111-1113)aAg>aGg	p.K371R	IBTK_ENST00000510291.1_Missense_Mutation_p.K371R|IBTK_ENST00000503631.1_Missense_Mutation_p.K371R	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	371					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		AGAAGCCATCTTCTTGCACTG	0.368													C	82933169	T	C	82933169	3	2	364	1	0	0	0	0	1	0	0	0	7534	1609	56	3	3037	3	IBTK	6	82933169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7344	82933169	88181898	5478	28980											
DOPEY1	23033	broad.mit.edu	37	chr6	83831684	83831684	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagatgtcctgattgaagtgTttagaacattatattctcaa	14	15	7	5	0	1	4	1	2	1	2	3	4	2	4	1	0	1	1	1	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83831684T>G	ENST00000349129.2	+	11	1395	c.1135T>G	c.(1135-1137)Ttt>Gtt	p.F379V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.F370V|DOPEY1_ENST00000536812.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.F370V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	379					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GATTGAAGTGTTTAGAACATT	0.338													G	83831684	T	G	83831684	3	3	364	1	0	0	0	0	1	0	0	0	4746	1725	60	5	1169	5	DOPEY1	6	83831684	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	898515	83831684	87283383	5479	28981											
DOPEY1	23033	broad.mit.edu	37	chr6	83848136	83848136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagaaattcttatttctCtctgcttatattacatgcgt	11	18	4	8	1	3	1	0	0	3	1	4	1	3	1	0	0	3	1	0	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83848136C>A	ENST00000349129.2	+	21	4635	c.4375C>A	c.(4375-4377)Ctc>Atc	p.L1459I	DOPEY1_ENST00000369739.3_Missense_Mutation_p.L1450I|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L1440I	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1459					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TCTTATTTCTCTCTGCTTATA	0.363													A	83848136	C	A	83848136	3	1	364	1	0	0	0	0	1	0	0	0	4746	913	32	4	4449	4	DOPEY1	6	83848136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16452	83848136	87266931	5480	28982											
DOPEY1	23033	broad.mit.edu	37	chr6	83857007	83857007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctatgcttatattcAaaggtaagattactgatatt	12	19	6	4	0	2	2	1	1	1	1	2	2	2	2	0	1	2	3	0	1	7	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83857007A>G	ENST00000349129.2	+	26	5989	c.5729A>G	c.(5728-5730)cAa>cGa	p.Q1910R	DOPEY1_ENST00000369739.3_Missense_Mutation_p.Q1901R|DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000237163.5_Missense_Mutation_p.Q1891R	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1910					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GCTTATATTCAAAGGTAAGAT	0.284													G	83857007	A	G	83857007	3	3	364	1	0	0	0	0	1	0	0	0	4746	130	5	3	5823	3	DOPEY1	6	83857007	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8871	83857007	87258060	5481	28983											
ME1	4199	broad.mit.edu	37	chr6	83938602	83938602	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggttcttcatttcttCatgttcatgggcaaacttct	7	19	6	9	0	7	0	3	0	4	0	7	0	7	0	0	2	1	3	0	2	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:83938602C>A	ENST00000369705.3	-	10	1191	c.1075G>T	c.(1075-1077)Gaa>Taa	p.E359*	ME1_ENST00000541327.1_Nonsense_Mutation_p.E193*|ME1_ENST00000543031.1_Nonsense_Mutation_p.E284*	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	359					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding			NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	TTCATTTCTTCATGTTCATGG	0.408													A	83938602	C	A	83938602	4	1	364	1	0	0	0	0	0	1	0	0	9492	835	29	4	663	4	ME1	6	83938602	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81595	83938602	87176465	5482	28984											
KIAA1009	22832	broad.mit.edu	37	chr6	84865090	84865090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctttgccctccagatcaGcttctagcttttttatcctt	6	18	4	13	0	3	1	1	0	2	1	5	1	5	1	3	0	3	2	3	0	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865090G>T	ENST00000403245.3	-	22	3035	c.2921C>A	c.(2920-2922)gCt>gAt	p.A974D	KIAA1009_ENST00000257766.4_Missense_Mutation_p.A898D|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	974					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		CTCCAGATCAGCTTCTAGCTT	0.383													T	84865090	G	T	84865090	3	4	364	1	0	0	0	0	1	0	0	0	8261	971	34	4	1314	4	KIAA1009	6	84865090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	926488	84865090	86249977	5483	28985											
KIAA1009	22832	broad.mit.edu	37	chr6	84865120	84865120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttatccttttctccataAattccactgtatttttatcc	8	22	1	10	0	1	0	0	0	1	0	5	0	4	0	4	0	0	1	4	0	5	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:84865120A>C	ENST00000403245.3	-	22	3005	c.2891T>G	c.(2890-2892)tTt>tGt	p.F964C	KIAA1009_ENST00000257766.4_Missense_Mutation_p.F888C|KIAA1009_ENST00000461137.1_5'UTR	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	964					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TTTCTCCATAAATTCCACTGT	0.388													C	84865120	A	C	84865120	3	2	364	1	0	0	0	0	1	0	0	0	8261	14	1	5	1344	5	KIAA1009	6	84865120	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30	84865120	86249947	5484	28986											
SNX14	57231	broad.mit.edu	37	chr6	86224236	86224236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttacctacatacatcaGgtaatcatagactccttcta	13	13	4	11	0	4	1	2	0	2	1	5	2	5	1	2	1	3	1	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86224236G>T	ENST00000314673.3	-	24	2556	c.2380C>A	c.(2380-2382)Ctg>Atg	p.L794M	SNX14_ENST00000505648.1_Missense_Mutation_p.L742M|SNX14_ENST00000369627.2_Missense_Mutation_p.L785M|SNX14_ENST00000346348.3_Missense_Mutation_p.L741M|SNX14_ENST00000513865.1_Missense_Mutation_p.L513M|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	794					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		ACATACATCAGGTAATCATAG	0.333													T	86224236	G	T	86224236	3	4	364	1	0	0	0	0	1	0	0	0	14979	991	35	4	484	4	SNX14	6	86224236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1359116	86224236	84890831	5485	28987											
SNX14	57231	broad.mit.edu	37	chr6	86227481	86227481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgtgcagtaccttcttgTtgttttctgaagtagggctg	7	16	11	7	0	2	1	0	1	2	0	2	1	2	1	1	1	2	6	1	1	4	7	rs138417324		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86227481T>C	ENST00000314673.3	-	23	2437	c.2261A>G	c.(2260-2262)aAc>aGc	p.N754S	SNX14_ENST00000505648.1_Missense_Mutation_p.N702S|SNX14_ENST00000369627.2_Missense_Mutation_p.N745S|SNX14_ENST00000346348.3_Missense_Mutation_p.N701S|SNX14_ENST00000513865.1_Missense_Mutation_p.N473S|SNX14_ENST00000508980.1_5'UTR	NM_153816.3	NP_722523.1	Q9Y5W7	SNX14_HUMAN	sorting nexin 14	754					cell communication|protein transport	integral to membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(11)|skin(1)	22		all_cancers(76;4.83e-07)|Acute lymphoblastic leukemia(125;3.3e-08)|Prostate(29;2.55e-07)|all_hematologic(105;3.66e-05)|all_epithelial(107;0.000695)|Lung NSC(302;0.197)|all_lung(197;0.24)		BRCA - Breast invasive adenocarcinoma(108;0.0423)		TACCTTCTTGTTGTTTTCTGA	0.348													C	86227481	T	C	86227481	3	2	364	1	0	0	0	0	1	0	0	0	14979	1725	60	3	607	3	SNX14	6	86227481	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3245	86227481	84887586	5486	28988											
SYNCRIP	10492	broad.mit.edu	37	chr6	86332297	86332297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttaccactcattaacctaCgccttgcctgggcagctgtt	7	13	7	14	1	1	0	1	0	0	0	1	0	1	0	4	1	5	3	4	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:86332297C>T	ENST00000355238.6	-	8	1117	c.911G>A	c.(910-912)cGt>cAt	p.R304H	SYNCRIP_ENST00000369622.3_Missense_Mutation_p.R304H	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	304	RRM 2.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		CATTAACCTACGCCTTGCCTG	0.433													T	86332297	C	T	86332297	3	4	364	1	0	0	0	0	1	0	0	0	15541	536	19	1	1022	1	SYNCRIP	6	86332297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104816	86332297	84782770	5487	28989											
ZNF292	23036	broad.mit.edu	37	chr6	87943143	87943143	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcaactgctctagcaaaGctgtgttctgaccatccaga	12	9	8	12	0	2	2	0	1	2	1	3	2	3	2	2	0	5	5	2	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87943143G>A	ENST00000369577.3	+	5	682	c.639G>A	c.(637-639)aaG>aaA	p.K213K	ZNF292_ENST00000339907.4_Silent_p.K208K	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTCTAGCAAAGCTGTGTTCTG	0.358													A	87943143	G	A	87943143	2	1	364	1	0	0	0	0	0	0	0	1	17927	962	34	2		2	ZNF292	6	87943143	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1610846	87943143	83171924	5488	28990											
ZNF292	23036	broad.mit.edu	37	chr6	87966302	87966302	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatttgtgtcatccaggTttccaggagagaaaagaaca	15	10	10	6	0	1	3	1	1	0	2	3	5	3	4	2	2	1	1	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87966302T>G	ENST00000369577.3	+	8	2998	c.2955T>G	c.(2953-2955)ggT>ggG	p.G985G	ZNF292_ENST00000339907.4_Silent_p.G980G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	985					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTCATCCAGGTTTCCAGGAGA	0.403													G	87966302	T	G	87966302	2	3	364	1	0	0	0	0	0	0	0	1	17927	1712	60	5		5	ZNF292	6	87966302	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23159	87966302	83148765	5489	28991											
ZNF292	23036	broad.mit.edu	37	chr6	87968797	87968797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgttttcctcctttataaGtgtcatgccaacaaaaagta	12	14	5	10	1	1	0	1	0	0	0	4	0	4	0	4	0	2	2	4	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87968797G>A	ENST00000369577.3	+	8	5493	c.5450G>A	c.(5449-5451)aGt>aAt	p.S1817N	ZNF292_ENST00000339907.4_Missense_Mutation_p.S1812N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1817					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TCCTTTATAAGTGTCATGCCA	0.323													A	87968797	G	A	87968797	3	1	364	1	0	0	0	0	1	0	0	0	17927	1029	36	2	5480	2	ZNF292	6	87968797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2495	87968797	83146270	5490	28992											
ZNF292	23036	broad.mit.edu	37	chr6	87969868	87969868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttgaaagaatttcgatGtcaggtaagtgactgttctc	12	14	9	6	1	2	3	1	2	1	1	4	4	2	3	0	1	1	2	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87969868G>A	ENST00000369577.3	+	8	6564	c.6521G>A	c.(6520-6522)tGt>tAt	p.C2174Y	ZNF292_ENST00000339907.4_Missense_Mutation_p.C2169Y	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2174					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCGATGTCAGGTAAGT	0.368													A	87969868	G	A	87969868	3	1	364	1	0	0	0	0	1	0	0	0	17927	1377	48	2	6551	2	ZNF292	6	87969868	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1071	87969868	83145199	5491	28993											
ZNF292	23036	broad.mit.edu	37	chr6	87970355	87970356	+	Frame_Shift_Ins	INS	-	-	A																															tgcccaagaccaaacgaaagINSaaaaaaaataatttagaaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970355_87970356insA	ENST00000369577.3	+	8	7051_7052	c.7008_7009insA	c.(7009-7011)aaafs	p.K2337fs	ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.K2332fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CCAAACGAAAGAAAAAAAATAA	0.366													A	87970356	-	A	87970355	7	5	364	1	0	1	1	0	0	0	0	0	17927	933	33	0	7038	0	ZNF292	6	87970355	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	487	87970355	83144712	5492	28994											
ZNF292	23036	broad.mit.edu	37	chr6	87970632	87970632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttcttattgtattcaaaCggtgttgcaactcacaagta	12	15	6	8	1	4	0	2	0	2	0	4	0	4	0	0	1	3	4	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:87970632C>T	ENST00000369577.3	+	8	7328	c.7285C>T	c.(7285-7287)Cgg>Tgg	p.R2429W	ZNF292_ENST00000339907.4_Missense_Mutation_p.R2424W	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2429					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TGTATTCAAACGGTGTTGCAA	0.348													T	87970632	C	T	87970632	3	4	364	1	0	0	0	0	1	0	0	0	17927	527	19	1	7315	1	ZNF292	6	87970632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277	87970632	83144435	5493	28995											
C6orf165	154313	broad.mit.edu	37	chr6	88123597	88123597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaagatgcaagtctacttcGatatgaattatacgaatcga	15	13	7	6	3	1	2	0	1	1	1	3	5	1	2	0	0	3	1	0	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88123597G>A	ENST00000507897.1	+	4	345	c.262G>A	c.(262-264)Gat>Aat	p.D88N	C6ORF165_ENST00000369562.4_Missense_Mutation_p.D88N			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	88								p.D88N(2)		NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGTCTACTTCGATATGAATTA	0.338													A	88123597	G	A	88123597	3	1	364	1	0	0	0	0	1	0	0	0	2363	1058	37	1	272	1	C6orf165	6	88123597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152965	88123597	82991470	5494	28996											
RARS2	57038	broad.mit.edu	37	chr6	88229379	88229379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaaagtgacatctcctcTtcgagtcttcattccctgta	9	13	7	12	1	4	1	1	1	3	0	7	3	5	2	2	1	0	1	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88229379T>C	ENST00000369536.5	-	14	1204	c.1159A>G	c.(1159-1161)Aga>Gga	p.R387G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	387					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		ACATCTCCTCTTCGAGTCTTC	0.398													C	88229379	T	C	88229379	3	2	364	1	0	0	0	0	1	0	0	0	13147	1617	56	3	605	3	RARS2	6	88229379	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	105782	88229379	82885688	5495	28997											
RARS2	57038	broad.mit.edu	37	chr6	88251665	88251665	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctgtagaggattggactGcagtttttcctcatagccaa	10	13	10	8	0	1	1	1	0	0	1	2	3	2	3	2	2	3	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88251665G>A	ENST00000369536.5	-	8	628	c.583C>T	c.(583-585)Cag>Tag	p.Q195*		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	195					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GGATTGGACTGCAGTTTTTCC	0.358													A	88251665	G	A	88251665	4	1	364	1	0	0	0	0	0	1	0	0	13147	1328	46	2	1205	2	RARS2	6	88251665	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22286	88251665	82863402	5496	28998											
SPACA1	81833	broad.mit.edu	37	chr6	88763681	88763681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtttcaaataggaatgtcGtcaaagaagtagaattcgga	16	11	10	4	2	2	2	2	0	0	2	4	4	2	4	0	2	0	2	0	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88763681G>A	ENST00000237201.1	+	2	343	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_030960.2	NP_112222.1	Q9HBV2	SACA1_HUMAN	sperm acrosome associated 1	76						integral to membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	20		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.11)		TAGGAATGTCGTCAAAGAAGT	0.348													A	88763681	G	A	88763681	3	1	364	1	0	0	0	0	1	0	0	0	15066	1145	40	1	232	1	SPACA1	6	88763681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	512016	88763681	82351386	5497	28999											
CNR1	1268	broad.mit.edu	37	chr6	88853609	88853609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgtgtctgtggacacaGacatggttaccttggcaatc	10	10	11	10	1	1	2	0	0	1	2	2	3	1	3	1	3	1	2	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:88853609G>T	ENST00000537554.1	-	2	4947	c.1385C>A	c.(1384-1386)tCt>tAt	p.S462Y	CNR1_ENST00000369499.2_Missense_Mutation_p.S462Y|CNR1_ENST00000362094.5_3'UTR|CNR1_ENST00000468898.1_Missense_Mutation_p.S429Y|CNR1_ENST00000549716.1_Missense_Mutation_p.S401Y|CNR1_ENST00000535130.1_Missense_Mutation_p.S462Y|CNR1_ENST00000549890.1_Missense_Mutation_p.S462Y|CNR1_ENST00000369501.2_Missense_Mutation_p.S462Y|CNR1_ENST00000428600.2_Missense_Mutation_p.S462Y	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	462					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	TGTGGACACAGACATGGTTAC	0.502													T	88853609	G	T	88853609	3	4	364	1	0	0	0	0	1	0	0	0	3662	942	33	4	37	4	CNR1	6	88853609	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89928	88853609	82261458	5498	29000											
PM20D2	135293	broad.mit.edu	37	chr6	89859062	89859062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaggggcttttacaaatCttgatgttgtttttatggcc	9	16	10	6	0	1	1	0	1	1	0	1	1	1	1	1	3	2	4	1	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89859062C>A	ENST00000275072.4	+	2	639	c.544C>A	c.(544-546)Ctt>Att	p.L182I		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	182							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TTTTACAAATCTTGATGTTGT	0.403													A	89859062	C	A	89859062	3	1	364	1	0	0	0	0	1	0	0	0	12206	913	32	4	550	4	PM20D2	6	89859062	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1005453	89859062	81256005	5499	29001											
PM20D2	135293	broad.mit.edu	37	chr6	89862821	89862821	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttatccctgggaaggatTaaatgcattagatgctgctg	10	14	10	7	0	1	1	0	0	1	1	2	3	2	3	1	2	3	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89862821T>C	ENST00000275072.4	+	3	769	c.674T>C	c.(673-675)tTa>tCa	p.L225S		NM_001010853.1	NP_001010853.1	Q8IYS1	P20D2_HUMAN	peptidase M20 domain containing 2	225							hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|skin(1)	12		all_cancers(76;9.47e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00813)		TGGGAAGGATTAAATGCATTA	0.358													C	89862821	T	C	89862821	3	2	364	1	0	0	0	0	1	0	0	0	12206	1764	61	3	684	3	PM20D2	6	89862821	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3759	89862821	81252246	5500	29002											
GABRR1	2569	broad.mit.edu	37	chr6	89891699	89891699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcatgaccatcagggtagCggggaaataagtttggagca	13	7	14	7	1	1	1	1	1	0	0	1	3	1	3	1	4	3	4	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89891699C>T	ENST00000435811.1	-	7	1277	c.823G>A	c.(823-825)Gct>Act	p.A275T	GABRR1_ENST00000369451.3_Missense_Mutation_p.A205T|GABRR1_ENST00000454853.2_Missense_Mutation_p.A292T	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	292					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.A286T(3)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATCAGGGTAGCGGGGAAATAA	0.507													T	89891699	C	T	89891699	3	4	364	1	0	0	0	0	1	0	0	0	6228	768	27	1	577	1	GABRR1	6	89891699	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28878	89891699	81223368	5501	29003											
GABRR1	2569	broad.mit.edu	37	chr6	89899961	89899961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcacattgcagttactGtaaccctagggccaaaaaga	13	10	9	9	0	0	1	0	0	0	1	0	1	0	1	2	1	4	5	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89899961G>A	ENST00000435811.1	-	5	981	c.527C>T	c.(526-528)aCa>aTa	p.T176I	GABRR1_ENST00000369451.3_Missense_Mutation_p.T106I|GABRR1_ENST00000454853.2_Missense_Mutation_p.T193I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	193					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TGCAGTTACTGTAACCCTAGG	0.438													A	89899961	G	A	89899961	3	1	364	1	0	0	0	0	1	0	0	0	6228	1377	48	2	881	2	GABRR1	6	89899961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8262	89899961	81215106	5502	29004											
GABRR2	2570	broad.mit.edu	37	chr6	89977468	89977468	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaactgagacaaggagatCttctcatctgtttttaggga	13	12	10	6	0	3	3	1	1	3	3	4	6	3	4	0	2	1	1	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:89977468C>T	ENST00000402938.3	-	6	799	c.666G>A	c.(664-666)aaG>aaA	p.K222K	GABRR2_ENST00000602399.1_Silent_p.K247K	NM_002043.3	NP_002034.3	P28476	GBRR2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 2	247					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(10)|prostate(2)|urinary_tract(1)	21		all_cancers(76;1.67e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.77e-07)|all_epithelial(107;2.51e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0158)		ACAAGGAGATCTTCTCATCTG	0.403													T	89977468	C	T	89977468	2	4	364	1	0	0	0	0	0	0	0	1	6229	912	32	2		2	GABRR2	6	89977468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77507	89977468	81137599	5503	29005											
ANKRD6	22881	broad.mit.edu	37	chr6	90340257	90340257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caactccactgctacccagaGactccagcaggagctgtcgt	10	7	9	15	1	0	1	0	0	0	1	3	3	2	2	3	1	5	3	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90340257G>A	ENST00000369408.5	+	15	1962	c.1613G>A	c.(1612-1614)aGa>aAa	p.R538K	ANKRD6_ENST00000522441.1_Missense_Mutation_p.R573K|ANKRD6_ENST00000520793.1_Missense_Mutation_p.R509K|ANKRD6_ENST00000339746.4_Missense_Mutation_p.R573K|ANKRD6_ENST00000447838.2_Missense_Mutation_p.R568K|LYRM2_ENST00000520441.1_Intron	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	573							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GCTACCCAGAGACTCCAGCAG	0.567													A	90340257	G	A	90340257	3	1	364	1	0	0	0	0	1	0	0	0	685	942	33	2	1761	2	ANKRD6	6	90340257	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362789	90340257	80774810	5504	29006											
MDN1	23195	broad.mit.edu	37	chr6	90384300	90384300	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctcttgcacacagctgAggaggttcctgtacagagaa	12	9	11	9	0	1	2	0	1	1	1	3	5	2	3	1	2	3	4	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90384300A>C	ENST00000369393.3	-	79	12885	c.12770T>G	c.(12769-12771)cTc>cGc	p.L4257R	RP1-122O8.7_ENST00000438877.1_RNA|MDN1_ENST00000428876.1_Missense_Mutation_p.L4257R			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	4257					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACACAGCTGAGGAGGTTCCT	0.512													C	90384300	A	C	90384300	3	2	364	1	0	0	0	0	1	0	0	0	9490	304	11	5	4116	5	MDN1	6	90384300	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44043	90384300	80730767	5505	29007											
MDN1	23195	broad.mit.edu	37	chr6	90394655	90394655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcctggacccggtcaaaGaattgcttgtaataatggta	11	12	11	7	1	1	1	1	0	0	1	1	2	1	2	2	4	1	3	2	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90394655G>T	ENST00000369393.3	-	71	11884	c.11769C>A	c.(11767-11769)ttC>ttA	p.F3923L	MDN1_ENST00000428876.1_Missense_Mutation_p.F3923L			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3923					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CCCGGTCAAAGAATTGCTTGT	0.403													T	90394655	G	T	90394655	3	4	364	1	0	0	0	0	1	0	0	0	9490	933	33	4	5149	4	MDN1	6	90394655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10355	90394655	80720412	5506	29008											
MDN1	23195	broad.mit.edu	37	chr6	90428292	90428292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctatcccttaacagtgcccTtacagttccctccaccttct	7	13	4	17	0	1	0	0	0	1	0	4	0	4	0	5	0	3	2	5	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90428292T>C	ENST00000369393.3	-	43	6491	c.6376A>G	c.(6376-6378)Agg>Ggg	p.R2126G	MDN1_ENST00000428876.1_Missense_Mutation_p.R2126G			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2126					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AACAGTGCCCTTACAGTTCCC	0.463													C	90428292	T	C	90428292	3	2	364	1	0	0	0	0	1	0	0	0	9490	1608	56	3	10654	3	MDN1	6	90428292	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33637	90428292	80686775	5507	29009											
MDN1	23195	broad.mit.edu	37	chr6	90460196	90460196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagctgcagccagccactGgatcaggcttgttttaccaa	10	10	10	11	0	1	0	1	0	0	0	1	1	1	1	3	2	5	5	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90460196G>T	ENST00000369393.3	-	24	3398	c.3283C>A	c.(3283-3285)Cag>Aag	p.Q1095K	MDN1_ENST00000428876.1_Missense_Mutation_p.Q1095K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1095					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GCCAGCCACTGGATCAGGCTT	0.423													T	90460196	G	T	90460196	3	4	364	1	0	0	0	0	1	0	0	0	9490	1357	47	4	13823	4	MDN1	6	90460196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31904	90460196	80654871	5508	29010											
MDN1	23195	broad.mit.edu	37	chr6	90468059	90468059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaacggaagtcaggatgccGaaccagtggctctgttaaga	13	8	12	8	2	2	1	1	0	1	1	2	4	2	3	2	3	3	2	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90468059G>A	ENST00000369393.3	-	19	2732	c.2617C>T	c.(2617-2619)Cgg>Tgg	p.R873W	MDN1_ENST00000428876.1_Missense_Mutation_p.R873W			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	873					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TCAGGATGCCGAACCAGTGGC	0.453													A	90468059	G	A	90468059	3	1	364	1	0	0	0	0	1	0	0	0	9490	1057	37	1	14509	1	MDN1	6	90468059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7863	90468059	80647008	5509	29011											
MDN1	23195	broad.mit.edu	37	chr6	90513145	90513145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccagctttaatggcttcGgcattcctttccagcaaatc	8	13	6	14	1	0	0	0	0	0	0	5	0	3	0	4	2	2	4	4	2	2	5	rs147300618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90513145G>A	ENST00000369393.3	-	2	346	c.231C>T	c.(229-231)gcC>gcT	p.A77A	MDN1_ENST00000428876.1_Silent_p.A77A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	77					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TAATGGCTTCGGCATTCCTTT	0.493													A	90513145	G	A	90513145	2	1	364	1	0	0	0	0	0	0	0	1	9490	1103	39	1		1	MDN1	6	90513145	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45086	90513145	80601922	5510	29012											
CASP8AP2	9994	broad.mit.edu	37	chr6	90573337	90573337	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttattggaaccaaaggttGctcttctagcagtgactgaa	11	12	10	8	1	2	2	0	2	2	0	2	3	2	3	1	2	3	4	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90573337G>A	ENST00000551025.1	+	0	3346							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		ACCAAAGGTTGCTCTTCTAGC	0.438													A	90573337	G	A	90573337	1	1	364	0	1	0	0	0	0	0	0	0	2704	1319	46	2		2	CASP8AP2	6	90573337	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60192	90573337	80541730	5511	29013											
GJA10	84694	broad.mit.edu	37	chr6	90605392	90605392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgagcctctcacagatcTtcatagtcactgcagagaca	12	9	9	11	0	4	3	3	1	2	2	5	4	4	3	1	1	2	1	1	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90605392T>C	ENST00000369352.1	+	1	1205	c.1205T>C	c.(1204-1206)cTt>cCt	p.L402P		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	402					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		CTCACAGATCTTCATAGTCAC	0.547													C	90605392	T	C	90605392	3	2	364	1	0	0	0	0	1	0	0	0	6457	1609	56	3	1207	3	GJA10	6	90605392	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32055	90605392	80509675	5512	29014											
BACH2	60468	broad.mit.edu	37	chr6	90648063	90648063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatctacaggaaaaggaaGttttacctgaaaccaagaat	17	10	8	6	0	1	3	0	2	1	1	1	5	1	5	2	2	3	1	2	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90648063G>A	ENST00000257749.4	-	8	2550	c.1843C>T	c.(1843-1845)Ctt>Ttt	p.L615F	BACH2_ENST00000537989.1_Missense_Mutation_p.L615F|BACH2_ENST00000343122.3_Missense_Mutation_p.L615F	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	615						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		GGAAAAGGAAGTTTTACCTGA	0.353													A	90648063	G	A	90648063	3	1	364	1	0	0	0	0	1	0	0	0	1289	1029	36	2	690	2	BACH2	6	90648063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42671	90648063	80467004	5513	29015											
BACH2	60468	broad.mit.edu	37	chr6	90660619	90660619	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccatggtgaagttggaCacctccttctggcccacgtg	7	9	11	14	1	1	1	0	1	1	0	2	3	2	2	5	3	0	1	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:90660619C>T	ENST00000257749.4	-	7	1913	c.1206G>A	c.(1204-1206)gtG>gtA	p.V402V	RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000537989.1_Silent_p.V402V|RP3-512E2.2_ENST00000445838.1_RNA|BACH2_ENST00000343122.3_Silent_p.V402V	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	402						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		TGAAGTTGGACACCTCCTTCT	0.582													T	90660619	C	T	90660619	2	4	364	1	0	0	0	0	0	0	0	1	1289	465	17	2		2	BACH2	6	90660619	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12556	90660619	80454448	5514	29016											
MAP3K7	6885	broad.mit.edu	37	chr6	91263201	91263201	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaacagcccacatgattcGgaaagctgggccaccaatct	13	7	9	12	1	1	2	0	2	1	0	2	3	1	3	3	2	3	1	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:91263201G>T	ENST00000369329.3	-	7	873	c.712C>A	c.(712-714)Cga>Aga	p.R238R	MAP3K7_ENST00000369327.3_Silent_p.R238R|MAP3K7_ENST00000369332.3_Silent_p.R238R|MAP3K7_ENST00000369325.3_Silent_p.R238R	NM_145331.2	NP_663304.1	O43318	M3K7_HUMAN	mitogen-activated protein kinase kinase kinase 7	238	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|histone H3 acetylation|I-kappaB phosphorylation|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transforming growth factor beta receptor signaling pathway	Ada2/Gcn5/Ada3 transcription activator complex|cytosol|endosome membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	28		all_cancers(76;6.4e-08)|Acute lymphoblastic leukemia(125;1.43e-09)|Prostate(29;9.32e-09)|all_hematologic(105;3.69e-06)|all_epithelial(107;0.000187)|Ovarian(999;0.0164)		OV - Ovarian serous cystadenocarcinoma(136;2.05e-11)|all cancers(137;3.25e-11)|GBM - Glioblastoma multiforme(226;0.0416)|BRCA - Breast invasive adenocarcinoma(108;0.0429)		CACATGATTCGGAAAGCTGGG	0.403													T	91263201	G	T	91263201	2	4	364	1	0	0	0	0	0	0	0	1	9330	1124	39	4		4	MAP3K7	6	91263201	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	602582	91263201	79851866	5515	29017											
EPHA7	2045	broad.mit.edu	37	chr6	93953252	93953252	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtgatccctaaactcatCacatccctgaaaaagacaaa	17	8	5	11	0	2	3	2	2	0	1	4	3	4	3	2	0	1	0	2	0	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93953252C>T	ENST00000369303.4	-	17	3073	c.2889G>A	c.(2887-2889)gtG>gtA	p.V963V		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	963	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V963V(1)		NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		CTAAACTCATCACATCCCTGA	0.353													T	93953252	C	T	93953252	2	4	364	1	0	0	0	0	0	0	0	1	5213	813	29	2		2	EPHA7	6	93953252	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2690051	93953252	77161815	5516	29018											
EPHA7	2045	broad.mit.edu	37	chr6	93982040	93982040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtaatacttgatttcataTtctgtgatgactccattggg	9	17	8	7	1	2	3	1	3	1	0	4	3	3	3	1	1	1	1	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:93982040T>G	ENST00000369303.4	-	6	1609	c.1425A>C	c.(1423-1425)gaA>gaC	p.E475D		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	475	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGATTTCATATTCTGTGATGA	0.443													G	93982040	T	G	93982040	3	3	364	1	0	0	0	0	1	0	0	0	5213	1490	52	5	1619	5	EPHA7	6	93982040	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28788	93982040	77133027	5517	29019											
EPHA7	2045	broad.mit.edu	37	chr6	94120584	94120584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcaccaaggtcaccttggGtaaaactttcatctgcagca	11	12	7	11	0	4	0	3	0	1	0	4	0	4	0	2	2	3	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120584G>A	ENST00000369303.4	-	3	651	c.467C>T	c.(466-468)aCc>aTc	p.T156I	EPHA7_ENST00000369297.1_Missense_Mutation_p.T156I	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	156						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GTCACCTTGGGTAAAACTTTC	0.373													A	94120584	G	A	94120584	3	1	364	1	0	0	0	0	1	0	0	0	5213	1261	44	2	2589	2	EPHA7	6	94120584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138544	94120584	76994483	5518	29020											
EPHA7	2045	broad.mit.edu	37	chr6	94120851	94120851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacctggtatgttcgtatcGgggtatagttctcatccaaa	10	13	9	9	2	1	0	1	0	1	0	5	0	2	0	2	3	0	5	2	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:94120851G>A	ENST00000369303.4	-	3	384	c.200C>T	c.(199-201)cCg>cTg	p.P67L	EPHA7_ENST00000369297.1_Missense_Mutation_p.P67L	NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	67						integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		TGTTCGTATCGGGGTATAGTT	0.393													A	94120851	G	A	94120851	3	1	364	1	0	0	0	0	1	0	0	0	5213	1116	39	1	2856	1	EPHA7	6	94120851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267	94120851	76994216	5519	29021											
FUT9	10690	broad.mit.edu	37	chr6	96651394	96651394	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggatctgacaaatttaccTcagcaagctaggccaccctt	11	10	8	12	0	2	1	1	1	1	0	2	2	2	2	3	2	3	2	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:96651394T>A	ENST00000302103.5	+	3	689	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	121					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CAAATTTACCTCAGCAAGCTA	0.463													A	96651394	T	A	96651394	2	1	364	1	0	0	0	0	0	0	0	1	6163	1538	54	5		5	FUT9	6	96651394	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2530543	96651394	74463673	5520	29022											
GPR63	81491	broad.mit.edu	37	chr6	97247454	97247454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaactcaaaccagtgggagCcatggtttcaaaactatatc	14	9	9	9	0	2	0	2	0	0	0	3	2	2	2	2	3	4	1	2	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97247454C>T	ENST00000229955.3	-	2	499	c.154G>A	c.(154-156)Gct>Act	p.A52T	GPR63_ENST00000417980.1_Missense_Mutation_p.A52T	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	52						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		CCAGTGGGAGCCATGGTTTCA	0.448													T	97247454	C	T	97247454	3	4	364	1	0	0	0	0	1	0	0	0	6758	739	26	2	1109	2	GPR63	6	97247454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596060	97247454	73867613	5521	29023											
NDUFAF4	29078	broad.mit.edu	37	chr6	97339264	97339264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacatgtttcagcagcttTtacctagtatcaaaaaaaaa	16	13	5	7	0	2	1	2	1	0	0	2	1	2	1	1	0	3	4	1	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:97339264T>C	ENST00000316149.7	-	3	323	c.244A>G	c.(244-246)Aaa>Gaa	p.K82E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	82					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						TCAGCAGCTTTTACCTAGTAT	0.328													C	97339264	T	C	97339264	3	2	364	1	0	0	0	0	1	0	0	0	10353	1850	64	3	287	3	NDUFAF4	6	97339264	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91810	97339264	73775803	5522	29024											
CCNC	892	broad.mit.edu	37	chr6	100009529	100009529	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaataacttgttgtcttaaTttaagatgttcacctaatgc	12	16	6	7	0	2	1	1	0	1	1	2	1	2	1	1	0	2	3	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100009529T>C	ENST00000520429.1	-	3	613	c.168A>G	c.(166-168)aaA>aaG	p.K56K	CCNC_ENST00000523799.1_5'UTR|CCNC_ENST00000482541.2_Silent_p.K56K|CCNC_ENST00000523985.1_5'UTR|CCNC_ENST00000369220.4_Silent_p.K56K|CCNC_ENST00000521017.1_5'UTR|CCNC_ENST00000520371.1_Silent_p.K56K|CCNC_ENST00000518714.1_Silent_p.K56K	NM_001013399.1|NM_005190.3	NP_001013417.1|NP_005181.2	P24863	CCNC_HUMAN	cyclin C	56	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	DNA-directed RNA polymerase II, holoenzyme	protein kinase binding						all_cancers(76;8.46e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.064)		GTTGTCTTAATTTAAGATGTT	0.274													C	100009529	T	C	100009529	2	2	364	1	0	0	0	0	0	0	0	1	2945	1490	52	3		3	CCNC	6	100009529	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2670265	100009529	71105538	5523	29025											
SIM1	6492	broad.mit.edu	37	chr6	100841366	100841366	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacctgctcttaccatGgatcctgtggactgaagcga	8	12	9	12	1	2	1	1	1	1	0	3	4	3	3	3	2	3	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841366G>T	ENST00000369208.3	-	11	2349	c.1567C>A	c.(1567-1569)Cat>Aat	p.H523N	SIM1_ENST00000262901.4_Missense_Mutation_p.H523N			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	523	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		CTCTTACCATGGATCCTGTGG	0.522													T	100841366	G	T	100841366	3	4	364	1	0	0	0	0	1	0	0	0	14417	1348	47	4	741	4	SIM1	6	100841366	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	831837	100841366	70273701	5524	29026											
SIM1	6492	broad.mit.edu	37	chr6	100841384	100841384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggatcctgtggactgaagCgatgtgaggcatgctgtttt	8	13	14	6	1	0	2	0	2	0	0	1	5	1	4	1	3	2	3	1	3	1	2	rs141685162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:100841384C>T	ENST00000369208.3	-	11	2331	c.1549G>A	c.(1549-1551)Gct>Act	p.A517T	SIM1_ENST00000262901.4_Missense_Mutation_p.A517T			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	517	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TGGACTGAAGCGATGTGAGGC	0.572													T	100841384	C	T	100841384	3	4	364	1	0	0	0	0	1	0	0	0	14417	768	27	1	759	1	SIM1	6	100841384	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	100841384	70273683	5525	29027											
ASCC3	10973	broad.mit.edu	37	chr6	101086606	101086606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtatgaaatatttgtgtCtgtacagggttaaagtggct	12	15	11	3	0	1	1	0	1	1	0	1	1	1	1	0	2	1	4	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101086606C>A	ENST00000369162.2	-	25	4337	c.3993G>T	c.(3991-3993)caG>caT	p.Q1331H		NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	1331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		ATATTTGTGTCTGTACAGGGT	0.408													A	101086606	C	A	101086606	3	1	364	1	0	0	0	0	1	0	0	0	1038	912	32	4	2687	4	ASCC3	6	101086606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245222	101086606	70028461	5526	29028											
ASCC3	10973	broad.mit.edu	37	chr6	101247437	101247437	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacacttctagcattcagaAgtgcctgttctctgtaaaca	12	12	7	10	0	3	1	1	0	2	1	4	2	3	1	1	0	4	3	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101247437A>C	ENST00000369162.2	-	7	1483	c.1139T>G	c.(1138-1140)cTt>cGt	p.L380R	ASCC3_ENST00000522650.1_Missense_Mutation_p.L380R	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AGCATTCAGAAGTGCCTGTTC	0.378													C	101247437	A	C	101247437	3	2	364	1	0	0	0	0	1	0	0	0	1038	72	3	5	5613	5	ASCC3	6	101247437	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	160831	101247437	69867630	5527	29029											
ASCC3	10973	broad.mit.edu	37	chr6	101296419	101296419	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actaaaatgagaaataattcGattagtagcattacaagctg	18	11	7	5	1	0	1	0	1	0	1	1	3	0	1	0	0	3	3	0	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:101296419G>A	ENST00000369162.2	-	4	750	c.406C>T	c.(406-408)Cga>Tga	p.R136*	ASCC3_ENST00000522650.1_Nonsense_Mutation_p.R136*	NM_006828.2	NP_006819.2	Q8N3C0	HELC1_HUMAN	activating signal cointegrator 1 complex subunit 3	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		GAAATAATTCGATTAGTAGCA	0.383													A	101296419	G	A	101296419	4	1	364	1	0	0	0	0	0	1	0	0	1038	1066	37	1	6358	1	ASCC3	6	101296419	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48982	101296419	69818648	5528	29030											
HACE1	57531	broad.mit.edu	37	chr6	105244881	105244881	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtaatagtaggatctgtgCtgtatctctctgaccatgac	9	14	9	9	1	3	2	0	2	3	0	5	3	3	3	1	1	1	4	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105244881C>A	ENST00000262903.4	-	8	913	c.637G>T	c.(637-639)Gca>Tca	p.A213S	HACE1_ENST00000369125.2_Missense_Mutation_p.A213S	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	213					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		AGGATCTGTGCTGTATCTCTC	0.333													A	105244881	C	A	105244881	3	1	364	1	0	0	0	0	1	0	0	0	6995	797	28	4	2160	4	HACE1	6	105244881	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3948462	105244881	65870186	5529	29031											
HACE1	57531	broad.mit.edu	37	chr6	105291136	105291136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacaaatgttgacatcagCgctatattctaataatttac	15	15	4	7	1	2	1	1	1	1	0	2	1	2	1	0	0	3	2	0	0	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105291136C>T	ENST00000262903.4	-	5	640	c.364G>A	c.(364-366)Gct>Act	p.A122T	RP11-809N15.2_ENST00000422930.2_RNA|HACE1_ENST00000369125.2_Missense_Mutation_p.A122T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	122					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TTGACATCAGCGCTATATTCT	0.279													T	105291136	C	T	105291136	3	4	364	1	0	0	0	0	1	0	0	0	6995	768	27	1	2445	1	HACE1	6	105291136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46255	105291136	65823931	5530	29032											
POPDC3	64208	broad.mit.edu	37	chr6	105607695	105607695	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaactgtcactctgatcCtatcaaaacacaagaacaac	17	8	3	13	0	4	2	3	1	1	1	5	2	5	2	1	0	4	0	1	0	7	1	rs113419658		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105607695C>A	ENST00000254765.3	-	3	764		c.e3-1		BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_Splice_Site|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3							integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTCTGATCCTATCAAAACA	0.463													A	105607695	C	A	105607695	5	1	364	1	0	0	0	0	0	0	1	0	12333	695	24	4	398	4	POPDC3	6	105607695	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316559	105607695	65507372	5531	29033											
POPDC3	64208	broad.mit.edu	37	chr6	105609839	105609839	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagatgacactgaaacaGgtaactaagtcctttggttc	12	13	8	8	0	0	3	0	2	0	1	2	3	1	3	1	2	2	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105609839G>T	ENST00000254765.3	-	0	224				BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369122.3_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3							integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				CACTGAAACAGGTAACTAAGT	0.403													T	105609839	G	T	105609839	1	4	364	1	0	0	0	0	0	0	0	0	12333	1015	35	4		4	POPDC3	6	105609839	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2144	105609839	65505228	5532	29034											
PREP	5550	broad.mit.edu	37	chr6	105771585	105771585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattccttttacggtcacCtctcggaaaactcttggctc	8	14	6	13	2	4	0	2	0	2	0	7	1	5	1	2	3	2	1	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105771585C>A	ENST00000369110.3	-	10	1464	c.1272G>T	c.(1270-1272)gaG>gaT	p.E424D		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	424					proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	TTACGGTCACCTCTCGGAAAA	0.418													A	105771585	C	A	105771585	3	1	364	1	0	0	0	0	1	0	0	0	12560	680	24	4	884	4	PREP	6	105771585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161746	105771585	65343482	5533	29035											
PREP	5550	broad.mit.edu	37	chr6	105800935	105800935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattgataacaagacataGcggccatcatcagataacta	16	10	6	9	1	2	3	2	1	0	2	2	3	2	3	1	1	3	0	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:105800935G>T	ENST00000369110.3	-	7	927	c.735C>A	c.(733-735)cgC>cgA	p.R245R		NM_002726.4	NP_002717.3	P48147	PPCE_HUMAN	prolyl endopeptidase	245				R -> C (in Ref. 2; BAA04661).	proteolysis		serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(7)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		all_cancers(87;0.000128)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0344)|Lung NSC(302;0.191)|Colorectal(196;0.202)			Oxytocin(DB00107)	ACAAGACATAGCGGCCATCAT	0.353													T	105800935	G	T	105800935	2	4	364	1	0	0	0	0	0	0	0	1	12560	958	34	4		4	PREP	6	105800935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29350	105800935	65314132	5534	29036											
PRDM1	639	broad.mit.edu	37	chr6	106554794	106554794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacactgtaggtctgccaCaagagatttagcagcaccag	12	8	9	12	0	1	1	0	0	1	1	1	2	1	1	3	1	4	3	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106554794C>T	ENST00000369096.4	+	7	2145	c.1911C>T	c.(1909-1911)caC>caT	p.H637H	PRDM1_ENST00000369089.3_Silent_p.H503H|PRDM1_ENST00000369091.2_Silent_p.H601H	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	637					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AGGTCTGCCACAAGAGATTTA	0.547			"D, N, Mis, F, S"		DLBCL								T	106554794	C	T	106554794	2	4	364	1	0	0	0	0	0	0	0	1	12536	477	17	2		2	PRDM1	6	106554794	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	753859	106554794	64560273	5535	29037											
AIM1	202	broad.mit.edu	37	chr6	106968990	106968990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacaaagaacagtcaaatCttctgcccgacaactcctta	15	9	5	12	1	3	2	1	1	2	1	4	3	4	2	2	0	4	0	2	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106968990C>A	ENST00000369066.3	+	2	3170	c.2683C>A	c.(2683-2685)Ctt>Att	p.L895I		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	895							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ACAGTCAAATCTTCTGCCCGA	0.463													A	106968990	C	A	106968990	3	1	364	1	0	0	0	0	1	0	0	0	430	913	32	4	2689	4	AIM1	6	106968990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	414196	106968990	64146077	5536	29038											
AIM1	202	broad.mit.edu	37	chr6	106969007	106969007	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttctgcccgacaactcCttaaaggtcttcaatttcaa	12	13	4	12	1	5	0	2	0	3	0	6	1	6	0	2	1	2	0	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969007C>A	ENST00000369066.3	+	2	3187	c.2700C>A	c.(2698-2700)tcC>tcA	p.S900S		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	900							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		CCGACAACTCCTTAAAGGTCT	0.463													A	106969007	C	A	106969007	2	1	364	1	0	0	0	0	0	0	0	1	430	668	24	4		4	AIM1	6	106969007	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	106969007	64146060	5537	29039											
AIM1	202	broad.mit.edu	37	chr6	106969187	106969187	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaagaatgatgatatggaAaaggctaatcatattgaaag	18	10	10	3	0	1	5	1	4	0	1	1	6	1	6	0	2	0	1	0	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106969187A>G	ENST00000369066.3	+	2	3367	c.2880A>G	c.(2878-2880)gaA>gaG	p.E960E		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	960							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		ATGATATGGAAAAGGCTAATC	0.363													G	106969187	A	G	106969187	2	3	364	1	0	0	0	0	0	0	0	1	430	11	1	3		3	AIM1	6	106969187	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	180	106969187	64145880	5538	29040											
AIM1	202	broad.mit.edu	37	chr6	106978132	106978132	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactttgatgatactgaaGaaatgcagggatttggtgta	12	13	11	5	0	0	4	0	3	0	1	0	5	0	5	1	2	3	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:106978132G>T	ENST00000369066.3	+	6	3923	c.3436G>T	c.(3436-3438)Gaa>Taa	p.E1146*		NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1146	Beta/gamma crystallin 'Greek key' 3.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TGATACTGAAGAAATGCAGGG	0.328													T	106978132	G	T	106978132	4	4	364	1	0	0	0	0	0	1	0	0	430	943	33	4	3458	4	AIM1	6	106978132	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8945	106978132	64136935	5539	29041											
AIM1	202	broad.mit.edu	37	chr6	107000063	107000063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaaaaatttttaggattCtttcactggcccaaggagac	12	14	7	8	0	2	1	1	0	1	1	2	3	2	2	1	3	0	0	1	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107000063C>A	ENST00000369066.3	+	13	4707	c.4220C>A	c.(4219-4221)tCt>tAt	p.S1407Y	AIM1_ENST00000535438.1_Missense_Mutation_p.S226Y|AIM1_ENST00000487681.1_3'UTR	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1407							sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TTTTAGGATTCTTTCACTGGC	0.279													A	107000063	C	A	107000063	3	1	364	1	0	0	0	0	1	0	0	0	430	913	32	4	4270	4	AIM1	6	107000063	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21931	107000063	64115004	5540	29042											
QRSL1	55278	broad.mit.edu	37	chr6	107113856	107113856	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaaatgaaaagttagcCtctgtctctctaaaacagta	15	12	6	8	0	3	2	0	2	3	0	4	2	3	2	1	0	2	2	1	0	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107113856C>A	ENST00000369046.4	+	11	1670	c.1566C>A	c.(1564-1566)gcC>gcA	p.A522A		NM_018292.4	NP_060762.3	Q9H0R6	QRSL1_HUMAN	glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1	522					translation		ATP binding|carbon-nitrogen ligase activity, with glutamine as amido-N-donor			endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11	Breast(9;0.0107)|all_epithelial(6;0.14)	all_cancers(87;0.00768)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.248)	Epithelial(6;0.000334)|all cancers(7;0.00157)|BRCA - Breast invasive adenocarcinoma(8;0.00721)|OV - Ovarian serous cystadenocarcinoma(5;0.0152)	BRCA - Breast invasive adenocarcinoma(108;0.118)|all cancers(137;0.167)|Epithelial(106;0.176)		AAAAGTTAGCCTCTGTCTCTC	0.393													A	107113856	C	A	107113856	2	1	364	1	0	0	0	0	0	0	0	1	12969	668	24	4		4	QRSL1	6	107113856	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113793	107113856	64001211	5541	29043											
C6orf203	51250	broad.mit.edu	37	chr6	107372330	107372330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaacagagacagttatgCggattctcttgaaaaaagtg	15	9	11	6	1	1	2	0	1	1	1	2	5	1	4	0	2	2	1	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107372330C>T	ENST00000443043.1	+	5	1303	c.628C>T	c.(628-630)Cgg>Tgg	p.R210W	C6orf203_ENST00000405204.2_Missense_Mutation_p.R205W|C6orf203_ENST00000311381.5_Missense_Mutation_p.R205W	NM_001142470.1	NP_001135942.1	Q9P0P8	CF203_HUMAN	chromosome 6 open reading frame 203	205										large_intestine(4)|lung(2)|prostate(1)|urinary_tract(1)	8	Breast(9;0.00124)|all_epithelial(6;0.0729)	all_cancers(87;0.00461)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|Colorectal(196;0.171)|all_epithelial(87;0.23)	BRCA - Breast invasive adenocarcinoma(8;0.000395)|all cancers(7;0.00065)|Epithelial(6;0.000834)|OV - Ovarian serous cystadenocarcinoma(5;0.244)	BRCA - Breast invasive adenocarcinoma(108;0.117)		GACAGTTATGCGGATTCTCTT	0.383													T	107372330	C	T	107372330	3	4	364	1	0	0	0	0	1	0	0	0	2374	759	27	1	642	1	C6orf203	6	107372330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258474	107372330	63742737	5542	29044											
BEND3	57673	broad.mit.edu	37	chr6	107390158	107390158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagttcgggaaacaggCggacgaggagccgggcggca	11	3	19	8	5	0	2	0	1	0	1	1	6	0	5	1	6	2	2	1	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390158C>T	ENST00000429433.2	-	5	2886	c.2237G>A	c.(2236-2238)cGc>cAc	p.R746H	BEND3_ENST00000369042.1_Missense_Mutation_p.R746H	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	746	BEN 4.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						GGGAAACAGGCGGACGAGGAG	0.632													T	107390158	C	T	107390158	3	4	364	1	0	0	0	0	1	0	0	0	1404	768	27	1	253	1	BEND3	6	107390158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17828	107390158	63724909	5543	29045											
BEND3	57673	broad.mit.edu	37	chr6	107390799	107390799	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtcgaagtcgatgggCaccagccagatcttcttgga	10	10	11	10	2	2	1	0	0	2	1	4	4	2	2	2	2	2	1	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390799C>T	ENST00000429433.2	-	5	2245	c.1596G>A	c.(1594-1596)gtG>gtA	p.V532V	BEND3_ENST00000369042.1_Silent_p.V532V	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	532										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCGATGGGCACCAGCCAGA	0.622													T	107390799	C	T	107390799	2	4	364	1	0	0	0	0	0	0	0	1	1404	697	25	2		2	BEND3	6	107390799	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	641	107390799	63724268	5544	29046											
BEND3	57673	broad.mit.edu	37	chr6	107390913	107390913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcgtagcagtcatcacgCggggggtcgccttcactgcc	6	8	14	13	4	3	0	3	0	0	0	5	1	3	0	2	3	2	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107390913C>T	ENST00000429433.2	-	5	2131	c.1482G>A	c.(1480-1482)ccG>ccA	p.P494P	BEND3_ENST00000369042.1_Silent_p.P494P	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	494										central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						AGTCATCACGCGGGGGGTCGC	0.672													T	107390913	C	T	107390913	2	4	364	1	0	0	0	0	0	0	0	1	1404	755	27	1		1	BEND3	6	107390913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	107390913	63724154	5545	29047											
SOBP	55084	broad.mit.edu	37	chr6	107827511	107827511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatacaatataagcacaGgctattcagggcttgccact	13	9	7	12	0	1	0	1	0	0	0	1	0	1	0	2	2	3	3	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:107827511G>T	ENST00000317357.5	+	3	960	c.301G>T	c.(301-303)Ggc>Tgc	p.G101C		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	101							metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		TATAAGCACAGGCTATTCAGG	0.408													T	107827511	G	T	107827511	3	4	364	1	0	0	0	0	1	0	0	0	15006	1000	35	4	311	4	SOBP	6	107827511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	436598	107827511	63287556	5546	29048											
SCML4	256380	broad.mit.edu	37	chr6	108070930	108070930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagctggggaccgtggctgCgtcctgagggatggagctga	7	7	18	9	2	0	2	0	2	0	0	1	5	1	5	2	5	3	3	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108070930C>T	ENST00000369022.2	-	2	279	c.70G>A	c.(70-72)Gca>Aca	p.A24T	SCML4_ENST00000369021.3_Missense_Mutation_p.A53T|SCML4_ENST00000369020.3_Missense_Mutation_p.A82T			Q8N228	SCML4_HUMAN	sex comb on midleg-like 4 (Drosophila)	82					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(1)	25		all_cancers(87;3.26e-06)|Acute lymphoblastic leukemia(125;3.08e-08)|all_hematologic(75;1.15e-06)|all_epithelial(87;0.00142)|Colorectal(196;0.0316)		BRCA - Breast invasive adenocarcinoma(108;0.01)|Epithelial(106;0.0509)|all cancers(137;0.0586)|OV - Ovarian serous cystadenocarcinoma(136;0.0758)		ACCGTGGCTGCGTCCTGAGGG	0.602													T	108070930	C	T	108070930	3	4	364	1	0	0	0	0	1	0	0	0	14004	768	27	1	1024	1	SCML4	6	108070930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243419	108070930	63044137	5547	29049											
NR2E1	7101	broad.mit.edu	37	chr6	108497746	108497746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcggacgtccaccatccGcaagcaagtggccctctact	8	7	9	17	3	1	0	0	0	1	0	4	1	3	1	5	2	2	2	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108497746G>A	ENST00000368986.4	+	4	1007	c.299G>A	c.(298-300)cGc>cAc	p.R100H	NR2E1_ENST00000484978.1_3'UTR|NR2E1_ENST00000368983.3_Missense_Mutation_p.R137H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	100					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCCACCATCCGCAAGCAAGTG	0.672													A	108497746	G	A	108497746	3	1	364	1	0	0	0	0	1	0	0	0	10701	1087	38	1	313	1	NR2E1	6	108497746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426816	108497746	62617321	5548	29050											
LACE1	246269	broad.mit.edu	37	chr6	108687461	108687461	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacattgctgatgccatgAttctgaaacagctttttgaa	11	14	8	8	0	1	5	0	5	1	0	1	5	1	5	1	0	4	2	1	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:108687461A>G	ENST00000368977.4	+	6	859	c.673A>G	c.(673-675)Att>Gtt	p.I225V		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	225							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		TGATGCCATGATTCTGAAACA	0.378													G	108687461	A	G	108687461	3	3	364	1	0	0	0	0	1	0	0	0	8654	333	12	3	695	3	LACE1	6	108687461	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189715	108687461	62427606	5549	29051											
SESN1	27244	broad.mit.edu	37	chr6	109321740	109321740	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggtctatgggctaacactTtgttaagttctcctaaattc	11	15	7	8	0	2	0	0	0	2	0	4	0	2	0	1	2	1	3	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109321740T>A	ENST00000436639.2	-	4	1428	c.683A>T	c.(682-684)aAa>aTa	p.K228I	SESN1_ENST00000302071.2_Missense_Mutation_p.K103I|SESN1_ENST00000356644.7_Missense_Mutation_p.K169I	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	169					cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		GGCTAACACTTTGTTAAGTTC	0.403													A	109321740	T	A	109321740	3	1	364	1	0	0	0	0	1	0	0	0	14217	1841	64	5	1000	5	SESN1	6	109321740	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	634279	109321740	61793327	5550	29052											
CD164	8763	broad.mit.edu	37	chr6	109700818	109700818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagcaggtagtattaacaaCgctaacattaaaacaggaaa	21	7	7	6	1	0	0	0	0	0	0	0	1	0	1	0	2	5	4	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109700818C>T	ENST00000368961.5	-	2	403	c.223G>A	c.(223-225)Gtt>Att	p.V75I	CD164_ENST00000275080.7_Missense_Mutation_p.V75I|CD164_ENST00000324953.5_Missense_Mutation_p.V75I|CD164_ENST00000310786.4_Missense_Mutation_p.V75I|CD164_ENST00000504373.1_Missense_Mutation_p.V41I|CD164_ENST00000512821.1_Missense_Mutation_p.V75I|CD164_ENST00000413644.2_Missense_Mutation_p.V75I|CD164_ENST00000506649.1_5'UTR			Q04900	MUC24_HUMAN	CD164 molecule, sialomucin	75					hemopoiesis|heterophilic cell-cell adhesion|immune response|muscle organ development|negative regulation of cell adhesion|negative regulation of cell proliferation|signal transduction	endosome membrane|extracellular region|integral to plasma membrane|lysosomal membrane	protein binding			breast(1)|lung(2)	3		all_cancers(87;4.65e-22)|all_epithelial(87;2.54e-20)|all_lung(197;1.6e-05)|Lung NSC(302;2.92e-05)|Colorectal(196;3.46e-05)|Ovarian(999;0.0175)		Epithelial(106;7.83e-46)|all cancers(137;1.15e-45)|OV - Ovarian serous cystadenocarcinoma(136;2.89e-26)|BRCA - Breast invasive adenocarcinoma(108;0.00128)|GBM - Glioblastoma multiforme(226;0.16)		GTATTAACAACGCTAACATTA	0.353													T	109700818	C	T	109700818	3	4	364	1	0	0	0	0	1	0	0	0	2999	536	19	1	441	1	CD164	6	109700818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	379078	109700818	61414249	5551	29053											
PPIL6	285755	broad.mit.edu	37	chr6	109748356	109748356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtccaaaaacacgaaatCatgctgtgaagattaaggag	18	8	9	6	1	1	2	1	1	0	1	2	4	2	3	1	1	2	1	1	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109748356C>A	ENST00000521072.2	-	4	1004	c.424G>T	c.(424-426)Gat>Tat	p.D142Y	PPIL6_ENST00000424445.2_Missense_Mutation_p.D110Y|PPIL6_ENST00000440797.2_Missense_Mutation_p.D142Y|PPIL6_ENST00000524031.1_5'UTR	NM_173672.4	NP_775943.1	Q8IXY8	PPIL6_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 6	142					protein folding		peptidyl-prolyl cis-trans isomerase activity			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.00684)|BRCA - Breast invasive adenocarcinoma(108;0.00889)|all cancers(137;0.0106)|OV - Ovarian serous cystadenocarcinoma(136;0.0259)		AACACGAAATCATGCTGTGAA	0.318													A	109748356	C	A	109748356	3	1	364	1	0	0	0	0	1	0	0	0	12413	826	29	4	613	4	PPIL6	6	109748356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47538	109748356	61366711	5552	29054											
MICAL1	64780	broad.mit.edu	37	chr6	109767545	109767545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggatctggaacaggaccgGccccctcctgcgaggctgtg	6	7	15	13	2	1	0	0	0	1	0	2	4	2	3	4	5	2	1	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109767545G>A	ENST00000368952.4	-	19	2722	c.2432C>T	c.(2431-2433)gCc>gTc	p.A811V	MICAL1_ENST00000358577.3_Missense_Mutation_p.A706V|MICAL1_ENST00000358807.3_Missense_Mutation_p.A792V			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	792					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		AACAGGACCGGCCCCCTCCTG	0.647													A	109767545	G	A	109767545	3	1	364	1	0	0	0	0	1	0	0	0	9644	1203	42	2	856	2	MICAL1	6	109767545	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19189	109767545	61347522	5553	29055											
MICAL1	64780	broad.mit.edu	37	chr6	109769590	109769590	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccctgcagctctgaGggttccctgtgggatgtcag	5	9	13	14	0	2	1	1	1	1	0	3	2	3	2	4	2	3	3	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109769590G>T	ENST00000368952.4	-	13	2018	c.1728C>A	c.(1726-1728)ccC>ccA	p.P576P	MICAL1_ENST00000358577.3_Silent_p.P471P|MICAL1_ENST00000358807.3_Silent_p.P557P			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	557	CH.				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GCAGCTCTGAGGGTTCCCTGT	0.607													T	109769590	G	T	109769590	2	4	364	1	0	0	0	0	0	0	0	1	9644	987	35	4		4	MICAL1	6	109769590	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2045	109769590	61345477	5554	29056											
MICAL1	64780	broad.mit.edu	37	chr6	109775385	109775385	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcgctgggttggtggaGgtaggtgaagccatggaggc	7	8	20	6	1	0	1	0	1	0	0	0	3	0	3	1	7	2	4	1	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:109775385G>T	ENST00000368952.4	-	2	362	c.72C>A	c.(70-72)acC>acA	p.T24T	MICAL1_ENST00000358577.3_Silent_p.T5T|MICAL1_ENST00000358807.3_Silent_p.T5T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	5					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		GGTTGGTGGAGGTAGGTGAAG	0.627													T	109775385	G	T	109775385	2	4	364	1	0	0	0	0	0	0	0	1	9644	987	35	4		4	MICAL1	6	109775385	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5795	109775385	61339682	5555	29057											
GPR6	2830	broad.mit.edu	37	chr6	110301030	110301030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgccttcttcatggtcttcGgcatcatgctgcacctgtac	5	13	8	15	2	4	0	2	0	2	0	5	0	4	0	3	2	3	4	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110301030G>A	ENST00000414000.2	+	3	999	c.760G>A	c.(760-762)Ggc>Agc	p.G254S	GPR6_ENST00000275169.3_Missense_Mutation_p.G239S			P46095	GPR6_HUMAN	G protein-coupled receptor 6	239						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		CATGGTCTTCGGCATCATGCT	0.701													A	110301030	G	A	110301030	3	1	364	1	0	0	0	0	1	0	0	0	6755	1116	39	1	717	1	GPR6	6	110301030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525645	110301030	60814037	5556	29058											
WASF1	8936	broad.mit.edu	37	chr6	110423283	110423283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggggaggagttgaagtcaTtgaagctcttaatgaggaag	13	9	16	3	0	2	3	1	3	1	0	2	6	2	6	0	4	1	2	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110423283T>C	ENST00000392589.1	-	10	1866	c.1030A>G	c.(1030-1032)Atg>Gtg	p.M344V	WASF1_ENST00000392586.1_Missense_Mutation_p.M344V|WASF1_ENST00000392588.1_Missense_Mutation_p.M344V|WASF1_ENST00000359451.2_Missense_Mutation_p.M344V|WASF1_ENST00000392587.2_Missense_Mutation_p.M344V	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	344					actin filament polymerization|cellular component movement	actin cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GTTGAAGTCATTGAAGCTCTT	0.562													C	110423283	T	C	110423283	3	2	364	1	0	0	0	0	1	0	0	0	17354	1493	52	3	657	3	WASF1	6	110423283	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	122253	110423283	60691784	5557	29059											
CDK19	23097	broad.mit.edu	37	chr6	110953232	110953232	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatcattttagaccaacttaCcaatggcctttgtataatgc	13	14	5	9	0	1	1	1	0	0	1	1	1	1	1	3	1	3	1	3	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:110953232C>T	ENST00000368911.3	-	6	826		c.e6+1		CDK19_ENST00000413605.2_Splice_Site|CDK19_ENST00000323817.3_Splice_Site	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19								ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						GACCAACTTACCAATGGCCTT	0.338													T	110953232	C	T	110953232	5	4	364	1	0	0	0	0	0	0	1	0	3165	521	18	2	893	2	CDK19	6	110953232	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	529949	110953232	60161835	5558	29060											
KIAA1919	91749	broad.mit.edu	37	chr6	111587087	111587087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcgacaggtggtaacGtccttatcttggctatttgg	7	16	10	8	2	2	0	1	0	1	0	4	1	3	0	1	4	1	2	1	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587087G>A	ENST00000368847.4	+	4	675	c.322G>A	c.(322-324)Gtc>Atc	p.V108I		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	108					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AGGTGGTAACGTCCTTATCTT	0.408													A	111587087	G	A	111587087	3	1	364	1	0	0	0	0	1	0	0	0	8320	1145	40	1	336	1	KIAA1919	6	111587087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	633855	111587087	59527980	5559	29061											
KIAA1919	91749	broad.mit.edu	37	chr6	111587479	111587480	+	Frame_Shift_Ins	INS	-	-	T																															gtctcctttttctgttcttcINStttttttatgttggagctga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587479_111587480insT	ENST00000368847.4	+	4	1067_1068	c.714_715insT	c.(715-717)tttfs	p.F239fs		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	239					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		TTCTGTTCTTCTTTTTTTATGT	0.401													T	111587480	-	T	111587479	7	5	364	1	0	1	1	0	0	0	0	0	8320	912	32	0	728	0	KIAA1919	6	111587479	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	392	111587479	59527588	5560	29062											
KIAA1919	91749	broad.mit.edu	37	chr6	111587679	111587679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgagcaacattggcaGcctgacttcatctttatttc	8	16	8	9	0	2	2	1	2	1	0	3	2	2	2	1	1	3	3	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111587679G>A	ENST00000368847.4	+	4	1267	c.914G>A	c.(913-915)aGc>aAc	p.S305N		NM_153369.2	NP_699200.2	Q5TF39	NAGT1_HUMAN	KIAA1919	305					carbohydrate transport|sodium ion transport	apical plasma membrane|integral to membrane	symporter activity			large_intestine(3)|lung(2)|ovary(4)|skin(3)	12		all_cancers(87;2.35e-05)|Acute lymphoblastic leukemia(125;2.13e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.0209)		OV - Ovarian serous cystadenocarcinoma(136;0.055)|all cancers(137;0.0871)|Epithelial(106;0.0884)		AACATTGGCAGCCTGACTTCA	0.468													A	111587679	G	A	111587679	3	1	364	1	0	0	0	0	1	0	0	0	8320	971	34	2	928	2	KIAA1919	6	111587679	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200	111587679	59527388	5561	29063											
REV3L	5980	broad.mit.edu	37	chr6	111694798	111694798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttttgttttgtacttCtgggagttcgaggttttctt	3	24	9	5	1	3	0	0	0	3	0	4	2	3	1	0	2	1	4	0	2	1	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111694798C>A	ENST00000435970.1	-	15	5342	c.4526G>T	c.(4525-4527)aGa>aTa	p.R1509I	REV3L_ENST00000368802.3_Missense_Mutation_p.R1587I|REV3L_ENST00000358835.3_Missense_Mutation_p.R1587I|REV3L_ENST00000368805.1_Missense_Mutation_p.R1587I			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1587					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTTGTACTTCTGGGAGTTCG	0.358								DNA polymerases (catalytic subunits)					A	111694798	C	A	111694798	3	1	364	1	0	0	0	0	1	0	0	0	13328	913	32	4	4712	4	REV3L	6	111694798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107119	111694798	59420269	5562	29064											
REV3L	5980	broad.mit.edu	37	chr6	111695487	111695488	+	Frame_Shift_Ins	INS	-	-	T																															gattggaaaggtcaaatataINStttttttgaattaacgttga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695487_111695488insT	ENST00000435970.1	-	15	4652_4653	c.3836_3837insA	c.(3835-3837)aatfs	p.N1279fs	REV3L_ENST00000368805.1_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000368802.3_Frame_Shift_Ins_p.N1357fs|REV3L_ENST00000358835.3_Frame_Shift_Ins_p.N1357fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1357					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GGTCAAATATATTTTTTTGAAT	0.307								DNA polymerases (catalytic subunits)					T	111695488	-	T	111695487	7	5	364	1	0	1	1	0	0	0	0	0	13328	446	16	0	5401	0	REV3L	6	111695487	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	689	111695487	59419580	5563	29065											
REV3L	5980	broad.mit.edu	37	chr6	111695589	111695589	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggtcctatagaattacaAacaactgatggatgcaaatc	16	9	7	9	0	0	2	0	1	0	1	2	3	1	3	2	2	4	1	2	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111695589A>T	ENST00000435970.1	-	15	4551	c.3735T>A	c.(3733-3735)gtT>gtA	p.V1245V	REV3L_ENST00000368802.3_Silent_p.V1323V|REV3L_ENST00000358835.3_Silent_p.V1323V|REV3L_ENST00000368805.1_Silent_p.V1323V			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1323					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TAGAATTACAAACAACTGATG	0.353								DNA polymerases (catalytic subunits)					T	111695589	A	T	111695589	2	4	364	1	0	0	0	0	0	0	0	1	13328	1	1	5		5	REV3L	6	111695589	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	102	111695589	59419478	5564	29066											
REV3L	5980	broad.mit.edu	37	chr6	111697474	111697474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtattctcgttagggtgaCggtgcatatgtataaaaggg	11	13	13	4	2	1	1	0	1	1	0	2	1	1	1	0	3	1	4	0	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111697474C>T	ENST00000435970.1	-	15	2666	c.1850G>A	c.(1849-1851)cGt>cAt	p.R617H	REV3L_ENST00000368802.3_Missense_Mutation_p.R695H|REV3L_ENST00000358835.3_Missense_Mutation_p.R695H|REV3L_ENST00000368805.1_Missense_Mutation_p.R695H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	695					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		GTTAGGGTGACGGTGCATATG	0.313								DNA polymerases (catalytic subunits)					T	111697474	C	T	111697474	3	4	364	1	0	0	0	0	1	0	0	0	13328	536	19	1	7388	1	REV3L	6	111697474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1885	111697474	59417593	5565	29067											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111887723	111887723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgccttccacgtcctgtTtgtatttggggctgattgct	4	15	11	11	2	0	1	0	1	0	0	2	1	2	1	3	2	2	4	3	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111887723T>C	ENST00000368761.5	-	7	1878	c.1400A>G	c.(1399-1401)aAa>aGa	p.K467R	TRAF3IP2_ENST00000359831.4_Missense_Mutation_p.K466R|TRAF3IP2_ENST00000392556.4_Missense_Mutation_p.K55R|TRAF3IP2-AS1_ENST00000449449.2_RNA|TRAF3IP2-AS1_ENST00000456352.2_RNA|TRAF3IP2-AS1_ENST00000440395.1_RNA|TRAF3IP2_ENST00000340026.6_Missense_Mutation_p.K476R|TRAF3IP2-AS1_ENST00000606892.1_RNA|TRAF3IP2-AS1_ENST00000438298.2_RNA|TRAF3IP2_ENST00000368731.2_5'UTR|TRAF3IP2-AS1_ENST00000442928.2_RNA|TRAF3IP2_ENST00000368735.1_Missense_Mutation_p.K11R|TRAF3IP2-AS1_ENST00000532353.1_RNA	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	476	SEFIR.				intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CACGTCCTGTTTGTATTTGGG	0.488													C	111887723	T	C	111887723	3	2	364	1	0	0	0	0	1	0	0	0	16542	1841	64	3	309	3	TRAF3IP2	6	111887723	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	190249	111887723	59227344	5566	29068											
FYN	2534	broad.mit.edu	37	chr6	111983139	111983139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgctccagcacctcccGgttgttcatgcctgcaaaga	8	9	8	16	1	1	1	1	0	0	1	3	1	3	1	5	1	4	5	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:111983139G>A	ENST00000354650.3	-	14	2023	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	FYN_ENST00000356013.2_Missense_Mutation_p.R418W|FYN_ENST00000229471.4_Missense_Mutation_p.R418W|FYN_ENST00000538466.1_Missense_Mutation_p.R470W|FYN_ENST00000368682.3_Missense_Mutation_p.R470W|FYN_ENST00000368678.4_Missense_Mutation_p.R470W|FYN_ENST00000229470.5_Missense_Mutation_p.R421W|FYN_ENST00000368667.2_Missense_Mutation_p.R473W	NM_002037.5	NP_002028.1	P06241	FYN_HUMAN	FYN oncogene related to SRC, FGR, YES	473	Protein kinase.				axon guidance|calcium ion transport|feeding behavior|interspecies interaction between organisms|intracellular protein kinase cascade|learning|leukocyte migration|platelet activation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|endosome|plasma membrane	ATP binding|glycoprotein binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(17)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	30		all_cancers(87;1.37e-05)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.00125)|Colorectal(196;0.0211)		all cancers(137;0.0451)|OV - Ovarian serous cystadenocarcinoma(136;0.0476)|Epithelial(106;0.102)	Dasatinib(DB01254)	AGCACCTCCCGGTTGTTCATG	0.602													A	111983139	G	A	111983139	3	1	364	1	0	0	0	0	1	0	0	0	6178	1115	39	1	200	1	FYN	6	111983139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95416	111983139	59131928	5567	29069											
WISP3	8838	broad.mit.edu	37	chr6	112390780	112390780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtgtgtcagagaaactGcagagaacctggagatatat	13	11	12	5	0	1	3	1	0	0	3	1	6	1	3	1	1	3	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112390780G>A	ENST00000361714.1	+	5	1121	c.1076G>A	c.(1075-1077)tGc>tAc	p.C359Y	WISP3_ENST00000368666.2_Missense_Mutation_p.C341Y|WISP3_ENST00000409166.1_Missense_Mutation_p.C117Y|WISP3_ENST00000368663.3_Missense_Mutation_p.C318Y|WISP3_ENST00000604763.1_Missense_Mutation_p.C341Y|WISP3_ENST00000230529.5_Missense_Mutation_p.C341Y			O95389	WISP3_HUMAN	WNT1 inducible signaling pathway protein 3	341					cell-cell signaling|regulation of cell growth|signal transduction	extracellular region|soluble fraction	growth factor activity|insulin-like growth factor binding			breast(1)|central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	13		all_cancers(87;0.000196)|Acute lymphoblastic leukemia(125;1.18e-05)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0283)|OV - Ovarian serous cystadenocarcinoma(136;0.0613)|Epithelial(106;0.0827)|GBM - Glioblastoma multiforme(226;0.0972)|BRCA - Breast invasive adenocarcinoma(108;0.246)		CAGAGAAACTGCAGAGAACCT	0.343													A	112390780	G	A	112390780	3	1	364	1	0	0	0	0	1	0	0	0	17476	1319	46	2	1094	2	WISP3	6	112390780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	407641	112390780	58724287	5568	29070											
LAMA4	3910	broad.mit.edu	37	chr6	112499372	112499372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctaccagctgacttgcGtggttaatggtgtccatgct	6	14	11	10	1	1	1	0	1	1	0	2	1	2	1	2	2	5	4	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112499372G>A	ENST00000230538.7	-	10	1537	c.1140C>T	c.(1138-1140)caC>caT	p.H380H	LAMA4_ENST00000522006.1_Silent_p.H373H|LAMA4_ENST00000389463.4_Silent_p.H373H|LAMA4_ENST00000424408.2_Silent_p.H373H	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	380	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GCTGACTTGCGTGGTTAATGG	0.373													A	112499372	G	A	112499372	2	1	364	1	0	0	0	0	0	0	0	1	8667	1136	40	1		1	LAMA4	6	112499372	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108592	112499372	58615695	5569	29071											
LAMA4	3910	broad.mit.edu	37	chr6	112535229	112535229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagctgagaatgaacgAtagggcagaagctgaaaaac	17	5	13	6	1	0	5	0	4	0	3	0	8	0	5	0	1	4	3	0	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112535229A>C	ENST00000431543.2	-	4	594	c.340T>G	c.(340-342)Tcg>Gcg	p.S114A	LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000424408.2_Intron|LAMA4_ENST00000230538.7_Intron|LAMA4_ENST00000524032.1_Intron			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AGAATGAACGATAGGGCAGAA	0.483													C	112535229	A	C	112535229	3	2	364	1	0	0	0	0	1	0	0	0	8667	348	12	5		5	LAMA4	6	112535229	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35857	112535229	58579838	5570	29072											
LAMA4	3910	broad.mit.edu	37	chr6	112575078	112575078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggggagaggaaagaggcggaGagagagagaaggacgagtgt	15	2	22	2	2	0	5	0	0	0	5	0	12	0	7	0	6	0	0	0	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:112575078G>A	ENST00000368638.4	-	2	545	c.275C>T	c.(274-276)tCt>tTt	p.S92F	LAMA4_ENST00000522006.1_Intron|LAMA4_ENST00000389463.4_Intron|LAMA4_ENST00000431543.2_Intron|LAMA4_ENST00000424408.2_Intron|RP11-506B6.6_ENST00000588837.1_RNA|RP11-506B6.6_ENST00000585504.1_RNA|RP11-506B6.6_ENST00000585450.1_RNA|RP11-506B6.6_ENST00000587816.1_RNA|RP11-506B6.6_ENST00000590673.1_RNA|LAMA4_ENST00000230538.7_Intron|RP11-506B6.6_ENST00000590804.1_RNA|RP11-506B6.6_ENST00000590293.1_RNA|RP11-506B6.6_ENST00000433684.3_RNA|RP11-506B6.6_ENST00000585611.1_RNA|LAMA4_ENST00000453937.2_Missense_Mutation_p.S92F|RP11-506B6.6_ENST00000590584.1_RNA			Q16363	LAMA4_HUMAN	laminin, alpha 4	0	Laminin EGF-like 1.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		AAGAGGCGGAGAGAGAGAGAA	0.587													A	112575078	G	A	112575078	3	1	364	1	0	0	0	0	1	0	0	0	8667	942	33	2	5516	2	LAMA4	6	112575078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39849	112575078	58539989	5571	29073											
HDAC2	3066	broad.mit.edu	37	chr6	114279819	114279819	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttagaaacgtacatctctGcatctgcttactatactcag	12	13	5	11	1	3	1	1	0	2	1	4	1	3	1	0	0	6	3	0	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:114279819G>A	ENST00000519065.1	-	3	653	c.277C>T	c.(277-279)Cag>Tag	p.Q93*	HDAC2_ENST00000519108.1_Nonsense_Mutation_p.Q63*|HDAC2_ENST00000368632.2_Nonsense_Mutation_p.Q63*|HDAC2_ENST00000398283.2_Nonsense_Mutation_p.Q187*			Q92769	HDAC2_HUMAN	histone deacetylase 2	93	Histone deacetylase.			QR -> HI (in Ref. 1; AAC50814).	blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GTACATCTCTGCATCTGCTTA	0.318													A	114279819	G	A	114279819	4	1	364	1	0	0	0	0	0	1	0	0	7062	1328	46	2	1237	2	HDAC2	6	114279819	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1704741	114279819	56835248	5572	29074											
FRK	2444	broad.mit.edu	37	chr6	116263743	116263743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggatggttgcggaagtCtatagttttgagccaacatc	10	13	12	6	1	1	1	0	1	1	0	2	3	1	3	1	3	3	3	1	3	4	6	rs12209851		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116263743C>A	ENST00000606080.1	-	8	1798	c.1352G>T	c.(1351-1353)aGa>aTa	p.R451I	FRK_ENST00000538210.1_Missense_Mutation_p.R309I	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	451	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTGCGGAAGTCTATAGTTTTG	0.423													A	116263743	C	A	116263743	3	1	364	1	0	0	0	0	1	0	0	0	6100	913	32	4	169	4	FRK	6	116263743	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1983924	116263743	54851324	5573	29075											
FRK	2444	broad.mit.edu	37	chr6	116277640	116277640	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatattcttgcagacttccAtgtctcatcaactctgtaat	11	15	5	10	0	4	2	2	0	3	2	6	2	5	2	1	0	2	2	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116277640A>G	ENST00000606080.1	-	5	1379	c.933T>C	c.(931-933)caT>caC	p.H311H	FRK_ENST00000538210.1_Silent_p.H169H	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	311	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GCAGACTTCCATGTCTCATCA	0.333													G	116277640	A	G	116277640	2	3	364	1	0	0	0	0	0	0	0	1	6100	214	8	3		3	FRK	6	116277640	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13897	116277640	54837427	5574	29076											
TSPYL1	7259	broad.mit.edu	37	chr6	116600638	116600638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacgccctttttcaggctgCggtcggctgccatcaccaca	7	9	10	15	3	2	0	2	0	0	0	3	1	2	0	3	3	3	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116600638C>T	ENST00000368608.3	-	1	428	c.356G>A	c.(355-357)cGc>cAc	p.R119H	DSE_ENST00000540275.1_Intron	NM_003309.3	NP_003300.1	Q9H0U9	TSYL1_HUMAN	TSPY-like 1	119					nucleosome assembly	nucleolus				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(3)|urinary_tract(1)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.0235)|OV - Ovarian serous cystadenocarcinoma(136;0.0469)|GBM - Glioblastoma multiforme(226;0.0503)|Epithelial(106;0.094)		TTTCAGGCTGCGGTCGGCTGC	0.672													T	116600638	C	T	116600638	3	4	364	1	0	0	0	0	1	0	0	0	16760	768	27	1	961	1	TSPYL1	6	116600638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322998	116600638	54514429	5575	29077											
DSE	29940	broad.mit.edu	37	chr6	116720538	116720538	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaatgccaactacgacaGccatcccatgctgtacttct	11	9	5	16	1	1	0	0	0	1	0	2	1	2	0	4	0	6	2	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116720538G>T	ENST00000331677.3	+	3	569	c.125G>T	c.(124-126)aGc>aTc	p.S42I	DSE_ENST00000540275.1_3'UTR|DSE_ENST00000452085.3_Missense_Mutation_p.S42I|DSE_ENST00000537543.1_Missense_Mutation_p.S61I|DSE_ENST00000359564.2_Missense_Mutation_p.S42I			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	42					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		AACTACGACAGCCATCCCATG	0.547													T	116720538	G	T	116720538	3	4	364	1	0	0	0	0	1	0	0	0	4813	971	34	4	127	4	DSE	6	116720538	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119900	116720538	54394529	5576	29078											
RSPH4A	345895	broad.mit.edu	37	chr6	116948877	116948877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcacagatgagacataccGcatatttcttgccctcaagc	11	9	9	12	1	2	2	1	1	1	2	2	3	2	2	2	1	3	2	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116948877G>A	ENST00000229554.5	+	3	1144	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Missense_Mutation_p.R336H	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	336					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke		p.R336H(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GAGACATACCGCATATTTCTT	0.438									Kartagener syndrome				A	116948877	G	A	116948877	3	1	364	1	0	0	0	0	1	0	0	0	13797	1087	38	1	1017	1	RSPH4A	6	116948877	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228339	116948877	54166190	5577	29079											
RSPH4A	345895	broad.mit.edu	37	chr6	116949302	116949302	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagctacccacctttcccaGgaaatgagagtaattattta	14	12	6	9	0	0	1	0	1	0	1	1	3	1	2	3	1	2	2	3	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116949302G>T	ENST00000229554.5	+	3	1569	c.1432G>T	c.(1432-1434)Gga>Tga	p.G478*	RSPH4A_ENST00000368580.4_Intron|RSPH4A_ENST00000368581.4_Nonsense_Mutation_p.G478*	NM_001010892.2	NP_001010892.1	Q5TD94	RSH4A_HUMAN	radial spoke head 4 homolog A (Chlamydomonas)	478					cilium axoneme assembly|cilium movement	cytoplasm|cytoskeleton|radial spoke				breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						ACCTTTCCCAGGAAATGAGAG	0.418									Kartagener syndrome				T	116949302	G	T	116949302	4	4	364	1	0	0	0	0	0	1	0	0	13797	1001	35	4	1442	4	RSPH4A	6	116949302	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	425	116949302	54165765	5578	29080											
ZUFSP	221302	broad.mit.edu	37	chr6	116973311	116973311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagccacacccgtctcacatCtgtggcagcattctgataat	11	10	7	13	1	3	1	1	1	3	0	4	1	3	1	2	1	2	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116973311C>T	ENST00000368576.3	-	6	1249	c.1006G>A	c.(1006-1008)Gat>Aat	p.D336N	ZUFSP_ENST00000471919.1_5'UTR|ZUFSP_ENST00000368573.1_Silent_p.Q279Q	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	336						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		CGTCTCACATCTGTGGCAGCA	0.393													T	116973311	C	T	116973311	3	4	364	1	0	0	0	0	1	0	0	0	18343	913	32	2	750	2	ZUFSP	6	116973311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24009	116973311	54141756	5579	29081											
ZUFSP	221302	broad.mit.edu	37	chr6	116988279	116988279	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacatataatttcacttTccatgtgaacaattaggtga	14	14	7	6	0	1	2	1	2	0	0	2	3	2	3	1	2	1	0	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:116988279T>A	ENST00000368576.3	-	2	320	c.77A>T	c.(76-78)gAa>gTa	p.E26V	ZUFSP_ENST00000471919.1_Intron|ZUFSP_ENST00000368573.1_Missense_Mutation_p.E26V	NM_145062.2	NP_659499.2	Q96AP4	ZUFSP_HUMAN	zinc finger with UFM1-specific peptidase domain	26						intracellular	zinc ion binding			NS(1)|endometrium(2)|kidney(6)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21				GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0368)|OV - Ovarian serous cystadenocarcinoma(136;0.0464)|Epithelial(106;0.186)		AATTTCACTTTCCATGTGAAC	0.353													A	116988279	T	A	116988279	3	1	364	1	0	0	0	0	1	0	0	0	18343	1783	62	5	1695	5	ZUFSP	6	116988279	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14968	116988279	54126788	5580	29082											
KPNA5	3841	broad.mit.edu	37	chr6	117045503	117045503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcattaagggcagttGgtaatattgtgactggtgat	10	13	12	6	0	0	2	0	2	0	0	0	2	0	2	1	3	1	4	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117045503G>A	ENST00000368564.1	+	10	1112	c.964G>A	c.(964-966)Ggt>Agt	p.G322S	KPNA5_ENST00000356348.1_Missense_Mutation_p.G322S			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	319	NLS binding site (minor) (By similarity).				NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGGGCAGTTGGTAATATTGT	0.274													A	117045503	G	A	117045503	3	1	364	1	0	0	0	0	1	0	0	0	8491	1348	47	2	1002	2	KPNA5	6	117045503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57224	117045503	54069564	5581	29083											
RFX6	222546	broad.mit.edu	37	chr6	117246619	117246619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaaactctttccagatgCgagtaaagctgctttcactg	12	13	7	9	1	2	1	1	0	1	1	3	2	3	1	1	0	4	3	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246619C>T	ENST00000332958.2	+	16	1698	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	561					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding	p.A561V(3)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TTTCCAGATGCGAGTAAAGCT	0.393													T	117246619	C	T	117246619	3	4	364	1	0	0	0	0	1	0	0	0	13355	768	27	1	1744	1	RFX6	6	117246619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201116	117246619	53868448	5582	29084											
RFX6	222546	broad.mit.edu	37	chr6	117246731	117246731	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccacgtggagacaacCtatctccctctgccatccag	11	7	8	15	1	2	1	0	0	2	1	4	3	3	1	5	1	3	0	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117246731C>A	ENST00000332958.2	+	16	1810	c.1794C>A	c.(1792-1794)acC>acA	p.T598T		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	598					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						TGGAGACAACCTATCTCCCTC	0.542													A	117246731	C	A	117246731	2	1	364	1	0	0	0	0	0	0	0	1	13355	668	24	4		4	RFX6	6	117246731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112	117246731	53868336	5583	29085											
ROS1	6098	broad.mit.edu	37	chr6	117681540	117681540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttacaacgtcagcatatggtCctggccccttagatgtaaag	11	11	9	10	1	1	1	1	0	0	1	2	1	2	1	3	2	3	2	3	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117681540C>T	ENST00000368508.3	-	22	3608	c.3410G>A	c.(3409-3411)gGa>gAa	p.G1137E	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.G1132E	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1137	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		AGCATATGGTCCTGGCCCCTT	0.398			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								T	117681540	C	T	117681540	3	4	364	1	0	0	0	0	1	0	0	0	13622	855	30	2	3721	2	ROS1	6	117681540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	434809	117681540	53433527	5584	29086											
GOPC	57120	broad.mit.edu	37	chr6	117892043	117892043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaattgaaatgccaaggcCttcatgatcttccttaagga	12	13	8	8	0	2	2	1	2	1	0	3	3	3	3	3	2	1	1	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:117892043C>A	ENST00000535237.1	-	6	1121	c.892G>T	c.(892-894)Ggc>Tgc	p.G298C	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Missense_Mutation_p.G290C|GOPC_ENST00000368498.2_Missense_Mutation_p.G298C					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		ATGCCAAGGCCTTCATGATCT	0.378			O	ROS1	glioblastoma								A	117892043	C	A	117892043	3	1	364	1	0	0	0	0	1	0	0	0	6626	681	24	4	512	4	GOPC	6	117892043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210503	117892043	53223024	5585	29087											
MCM9	254394	broad.mit.edu	37	chr6	119232882	119232882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctttgctgcatatttgagGaactgagatttccctgtgcc	8	15	9	9	0	1	2	0	2	1	1	2	4	2	3	2	1	4	2	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119232882G>A	ENST00000316316.6	-	7	1369	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	MCM9_ENST00000316068.3_Silent_p.F361F	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	361	MCM.				DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		CATATTTGAGGAACTGAGATT	0.373													A	119232882	G	A	119232882	2	1	364	1	0	0	0	0	0	0	0	1	9469	1165	41	2		2	MCM9	6	119232882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1340839	119232882	51882185	5586	29088											
FAM184A	79632	broad.mit.edu	37	chr6	119295646	119295646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcgttagtcttattaaaAtctgcccgcatgatattttt	10	17	6	8	2	2	1	0	1	2	0	3	1	2	1	1	0	2	3	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119295646A>C	ENST00000338891.7	-	14	3305	c.2862T>G	c.(2860-2862)gaT>gaG	p.D954E	FAM184A_ENST00000352896.5_Intron|FAM184A_ENST00000521531.1_Intron|FAM184A_ENST00000368475.4_Intron|RP11-351A11.1_ENST00000518570.1_RNA	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	954										breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TCTTATTAAAATCTGCCCGCA	0.343													C	119295646	A	C	119295646	3	2	364	1	0	0	0	0	1	0	0	0	5557	98	4	5	580	5	FAM184A	6	119295646	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62764	119295646	51819421	5587	29089											
MAN1A1	4121	broad.mit.edu	37	chr6	119501064	119501064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgctattgaagatccaatGctccagtggaagaagatcgt	12	10	10	9	2	0	4	0	1	0	3	4	5	2	5	2	1	1	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119501064G>A	ENST00000368468.3	-	13	2323	c.1882C>T	c.(1882-1884)Cat>Tat	p.H628Y		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	628					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		AAGATCCAATGCTCCAGTGGA	0.378													A	119501064	G	A	119501064	3	1	364	1	0	0	0	0	1	0	0	0	9285	1319	46	2	83	2	MAN1A1	6	119501064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205418	119501064	51614003	5588	29090											
MAN1A1	4121	broad.mit.edu	37	chr6	119669662	119669662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccttttctcgcggatggcgGcgtcggcgggctcccggctc	1	9	15	16	7	1	0	0	0	1	0	5	1	2	1	2	6	0	2	2	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:119669662G>A	ENST00000368468.3	-	2	1010	c.569C>T	c.(568-570)gCc>gTc	p.A190V	MAN1A1_ENST00000368466.2_Missense_Mutation_p.A190V	NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	190					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		GCGGATGGCGGCGTCGGCGGG	0.662													A	119669662	G	A	119669662	3	1	364	1	0	0	0	0	1	0	0	0	9285	1203	42	2	1440	2	MAN1A1	6	119669662	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168598	119669662	51445405	5589	29091											
GJA1	2697	broad.mit.edu	37	chr6	121768052	121768052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttcaagcctactcaactgCtggagggaaggtgtggctgt	8	10	15	8	0	2	0	2	0	0	0	2	2	2	2	1	5	4	3	1	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768052C>T	ENST00000282561.3	+	2	216	c.59C>T	c.(58-60)gCt>gTt	p.A20V		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	20					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TACTCAACTGCTGGAGGGAAG	0.522													T	121768052	C	T	121768052	3	4	364	1	0	0	0	0	1	0	0	0	6456	797	28	2	61	2	GJA1	6	121768052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2098390	121768052	49347015	5590	29092											
GJA1	2697	broad.mit.edu	37	chr6	121768220	121768220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcccaatctctcatgtgcGcttctgggtcctgcagatca	6	14	8	13	1	4	1	2	0	2	1	7	1	6	1	2	1	2	2	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768220G>A	ENST00000282561.3	+	2	384	c.227G>A	c.(226-228)cGc>cAc	p.R76H		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	76			R -> H (in HSS; overlapping features with oculodentodigital dysplasia).|R -> S (in ODDD).		cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TCTCATGTGCGCTTCTGGGTC	0.463													A	121768220	G	A	121768220	3	1	364	1	0	0	0	0	1	0	0	0	6456	1087	38	1	229	1	GJA1	6	121768220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168	121768220	49346847	5591	29093											
GJA1	2697	broad.mit.edu	37	chr6	121768987	121768987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccatctctaactcccatGcacagccttttgatttcccc	8	12	4	17	0	1	1	0	1	1	0	4	1	3	1	5	0	3	2	5	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:121768987G>A	ENST00000282561.3	+	2	1151	c.994G>A	c.(994-996)Gca>Aca	p.A332T		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	332					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	TAACTCCCATGCACAGCCTTT	0.468													A	121768987	G	A	121768987	3	1	364	1	0	0	0	0	1	0	0	0	6456	1319	46	2	996	2	GJA1	6	121768987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	767	121768987	49346080	5592	29094											
FABP7	2173	broad.mit.edu	37	chr6	123104897	123104897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggttgctgttcgccaCtatgagaaggcataaaaatg	12	11	12	6	1	0	1	0	1	0	1	1	3	0	1	1	2	1	4	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123104897C>A	ENST00000368444.3	+	4	704	c.384C>A	c.(382-384)caC>caA	p.H128Q		NM_001446.3	NP_001437.1	O15540	FABP7_HUMAN	fatty acid binding protein 7, brain	128	Fatty acid binding.				negative regulation of cell proliferation	cytoplasm	lipid binding|transporter activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5				GBM - Glioblastoma multiforme(226;0.226)	Alpha-Linolenic Acid(DB00132)|gamma-Homolinolenic acid(DB00154)|Icosapent(DB00159)	CTGTTCGCCACTATGAGAAGG	0.403													A	123104897	C	A	123104897	3	1	364	1	0	0	0	0	1	0	0	0	5407	564	20	4	398	4	FABP7	6	123104897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1335910	123104897	48010170	5593	29095											
TRDN	10345	broad.mit.edu	37	chr6	123673693	123673693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttttaccttgctccaCtgtcttggttgttttctctt	2	25	5	9	0	2	0	0	0	2	0	4	0	3	0	2	1	2	3	2	1	1	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:123673693C>T	ENST00000334268.4	-	21	1677	c.1360G>A	c.(1360-1362)Gtg>Atg	p.V454M	TRDN_ENST00000398178.3_Missense_Mutation_p.V454M			Q13061	TRDN_HUMAN	triadin	454					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		CCTTGCTCCACTGTCTTGGTT	0.398													T	123673693	C	T	123673693	3	4	364	1	0	0	0	0	1	0	0	0	16569	565	20	2	913	2	TRDN	6	123673693	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	568796	123673693	47441374	5594	29096											
TPD52L1	7164	broad.mit.edu	37	chr6	125574876	125574876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagttactccattcgcCattccataagtatgcctgct	9	14	6	12	1	1	1	0	1	1	0	4	1	3	1	4	0	3	3	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125574876C>A	ENST00000534000.1	+	5	696	c.400C>A	c.(400-402)Cat>Aat	p.H134N	TPD52L1_ENST00000368402.5_Missense_Mutation_p.H134N|TPD52L1_ENST00000392482.2_Intron|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000304877.13_Missense_Mutation_p.H139N|TPD52L1_ENST00000524679.1_Intron|TPD52L1_ENST00000527711.1_Intron|TPD52L1_ENST00000528193.1_Missense_Mutation_p.H134N|TPD52L1_ENST00000532429.1_Missense_Mutation_p.H105N|TPD52L1_ENST00000368388.2_Intron|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000534199.1_Intron	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	134					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		CTCCATTCGCCATTCCATAAG	0.299													A	125574876	C	A	125574876	3	1	364	1	0	0	0	0	1	0	0	0	16499	594	21	4	418	4	TPD52L1	6	125574876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1901183	125574876	45540191	5595	29097											
TPD52L1	7164	broad.mit.edu	37	chr6	125584090	125584090	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccggcggaccaaggaGgaggagctgcagtgctaagt	9	5	17	10	2	0	0	0	0	0	0	1	4	1	4	2	6	3	4	2	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125584090G>A	ENST00000534000.1	+	7	893	c.597G>A	c.(595-597)gaG>gaA	p.E199E	TPD52L1_ENST00000368402.5_3'UTR|TPD52L1_ENST00000392482.2_3'UTR|TPD52L1_ENST00000530868.1_3'UTR|TPD52L1_ENST00000304877.13_Silent_p.E204E|TPD52L1_ENST00000524679.1_3'UTR|TPD52L1_ENST00000527711.1_Silent_p.E186E|TPD52L1_ENST00000528193.1_3'UTR|TPD52L1_ENST00000532429.1_Silent_p.E170E|TPD52L1_ENST00000368388.2_3'UTR|HDDC2_ENST00000608456.1_Intron|TPD52L1_ENST00000534199.1_3'UTR	NM_003287.2	NP_003278.1	Q16890	TPD53_HUMAN	tumor protein D52-like 1	199					DNA fragmentation involved in apoptotic nuclear change|G2/M transition of mitotic cell cycle|induction of apoptosis|positive regulation of JNK cascade|positive regulation of MAP kinase activity	perinuclear region of cytoplasm	caspase activator activity|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|large_intestine(2)|prostate(1)	5			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0265)		GGACCAAGGAGGAGGAGCTGC	0.607													A	125584090	G	A	125584090	2	1	364	1	0	0	0	0	0	0	0	1	16499	991	35	2		2	TPD52L1	6	125584090	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9214	125584090	45530977	5596	29098											
HDDC2	51020	broad.mit.edu	37	chr6	125614012	125614012	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttcatagagctcctttCtgaggtcctctggtaggagc	9	12	11	9	0	3	2	1	1	2	1	5	3	5	3	2	3	2	3	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:125614012C>A	ENST00000368377.4	-	4	454	c.251G>T	c.(250-252)aGa>aTa	p.R84I	HDDC2_ENST00000608295.1_Intron|HDDC2_ENST00000398153.2_Missense_Mutation_p.R118I			Q7Z4H3	HDDC2_HUMAN	HD domain containing 2	118	HD.						metal ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(4)	6			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0186)		GAGCTCCTTTCTGAGGTCCTC	0.343													A	125614012	C	A	125614012	3	1	364	1	0	0	0	0	1	0	0	0	7071	913	32	4	273	4	HDDC2	6	125614012	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29922	125614012	45501055	5597	29099											
NCOA7	135112	broad.mit.edu	37	chr6	126210549	126210549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagaggaacgaaagaaagCtgagtcacaaataaacaatt	20	5	8	8	1	1	3	1	1	0	2	1	5	1	4	1	1	3	1	1	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126210549C>A	ENST00000368357.3	+	10	1701	c.1349C>A	c.(1348-1350)gCt>gAt	p.A450D	NCOA7_ENST00000392477.2_Missense_Mutation_p.A450D|NCOA7_ENST00000229634.9_Missense_Mutation_p.A335D	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	450					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CGAAAGAAAGCTGAGTCACAA	0.458													A	126210549	C	A	126210549	3	1	364	1	0	0	0	0	1	0	0	0	10310	797	28	4	1379	4	NCOA7	6	126210549	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596537	126210549	44904518	5598	29100											
NCOA7	135112	broad.mit.edu	37	chr6	126236496	126236496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtggatcatttgtacaCattctttgttcagtggtctc	7	16	10	8	0	4	0	2	0	2	0	5	1	4	1	0	3	1	2	0	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126236496C>T	ENST00000368357.3	+	12	2466	c.2114C>T	c.(2113-2115)aCa>aTa	p.T705I	NCOA7_ENST00000392477.2_Missense_Mutation_p.T705I|NCOA7_ENST00000229634.9_Missense_Mutation_p.T590I	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	705					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		CATTTGTACACATTCTTTGTT	0.433													T	126236496	C	T	126236496	3	4	364	1	0	0	0	0	1	0	0	0	10310	478	17	2	2152	2	NCOA7	6	126236496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25947	126236496	44878571	5599	29101											
NCOA7	135112	broad.mit.edu	37	chr6	126242113	126242113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactgttgaagaggcaaagCgcaggaagagcacatgcagc	14	5	13	9	1	1	3	1	1	0	2	1	4	1	4	0	2	4	5	0	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126242113C>T	ENST00000368357.3	+	13	2621	c.2269C>T	c.(2269-2271)Cgc>Tgc	p.R757C	NCOA7_ENST00000392477.2_Missense_Mutation_p.R757C|NCOA7_ENST00000229634.9_Missense_Mutation_p.R642C	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	757					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		AGAGGCAAAGCGCAGGAAGAG	0.453													T	126242113	C	T	126242113	3	4	364	1	0	0	0	0	1	0	0	0	10310	768	27	1	2311	1	NCOA7	6	126242113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5617	126242113	44872954	5600	29102											
NCOA7	135112	broad.mit.edu	37	chr6	126243846	126243846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggcccgacgccttcctGcaagggtgcaagggtatcca	8	7	13	13	2	0	0	0	0	0	0	2	1	2	0	4	3	3	4	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126243846G>A	ENST00000368357.3	+	14	2741	c.2389G>A	c.(2389-2391)Gca>Aca	p.A797T	NCOA7_ENST00000392477.2_Missense_Mutation_p.A797T|NCOA7_ENST00000229634.9_Missense_Mutation_p.A682T	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	797					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		ACGCCTTCCTGCAAGGGTGCA	0.512													A	126243846	G	A	126243846	3	1	364	1	0	0	0	0	1	0	0	0	10310	1319	46	2	2435	2	NCOA7	6	126243846	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1733	126243846	44871221	5601	29103											
TRMT11	60487	broad.mit.edu	37	chr6	126342392	126342392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccagtcacacatcaaggcGcttgatcacaatggaaaagg	14	8	9	10	1	3	1	3	1	0	0	4	2	4	2	1	3	0	1	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126342392G>A	ENST00000334379.5	+	12	1347	c.1226G>A	c.(1225-1227)cGc>cAc	p.R409H	TRMT11_ENST00000368332.3_Missense_Mutation_p.R409H	NM_001031712.2	NP_001026882.2	Q7Z4G4	TRM11_HUMAN	tRNA methyltransferase 11 homolog (S. cerevisiae)	409					tRNA processing		methyltransferase activity|nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				GBM - Glioblastoma multiforme(226;0.0356)		ACATCAAGGCGCTTGATCACA	0.398													A	126342392	G	A	126342392	3	1	364	1	0	0	0	0	1	0	0	0	16663	1087	38	1	1272	1	TRMT11	6	126342392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98546	126342392	44772675	5602	29104											
CENPW	387103	broad.mit.edu	37	chr6	126667456	126667456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaggagcatgtactggccGcagcaaaggtaaaatccaaa	17	5	10	9	1	0	0	0	0	0	0	1	1	1	1	2	3	3	5	2	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:126667456G>A	ENST00000368328.4	+	2	332	c.232G>A	c.(232-234)Gca>Aca	p.A78T	CENPW_ENST00000368326.1_Silent_p.P64P|CENPW_ENST00000368325.1_Missense_Mutation_p.A93T			Q5EE01	CENPW_HUMAN	centromere protein W	78						chromosome, centromeric region|nucleus	DNA binding			kidney(2)|large_intestine(1)|lung(3)	6						TGTACTGGCCGCAGCAAAGGT	0.398													A	126667456	G	A	126667456	3	1	364	1	0	0	0	0	1	0	0	0	3274	1087	38	1	238	1	CENPW	6	126667456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325064	126667456	44447611	5603	29105											
RSPO3	84870	broad.mit.edu	37	chr6	127471638	127471638	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtaaaagtggattttaCttacaccttggaaagtgcct	14	13	8	6	0	0	0	0	0	0	0	0	2	0	2	2	2	3	1	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127471638C>A	ENST00000356698.4	+	3	946	c.357C>A	c.(355-357)taC>taA	p.Y119*	RSPO3_ENST00000485757.1_3'UTR|RSPO3_ENST00000368317.3_Nonsense_Mutation_p.Y119*	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	119						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		GTGGATTTTACTTACACCTTG	0.373													A	127471638	C	A	127471638	4	1	364	1	0	0	0	0	0	1	0	0	13802	576	20	4	367	4	RSPO3	6	127471638	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	804182	127471638	43643429	5604	29106											
RNF146	81847	broad.mit.edu	37	chr6	127607801	127607801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcattcaataaacatgCttcctacaaacaggaaagcg	16	10	6	9	1	2	1	2	1	0	0	3	2	3	2	1	1	5	1	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127607801C>T	ENST00000368314.1	+	3	467	c.43C>T	c.(43-45)Ctt>Ttt	p.L15F	RNF146_ENST00000476956.1_3'UTR|RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000477776.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.L14F|RNF146_ENST00000608991.1_Missense_Mutation_p.L14F|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.L15F	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	15					positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		AATAAACATGCTTCCTACAAA	0.353													T	127607801	C	T	127607801	3	4	364	1	0	0	0	0	1	0	0	0	13539	797	28	2	42	2	RNF146	6	127607801	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136163	127607801	43507266	5605	29107											
RNF146	81847	broad.mit.edu	37	chr6	127608039	127608039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgtcaccagaagaacTcaaggcagcaagtagaggaa	15	7	11	8	0	2	3	2	0	0	3	2	4	2	4	1	2	2	4	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127608039T>C	ENST00000368314.1	+	3	705	c.281T>C	c.(280-282)cTc>cCc	p.L94P	RNF146_ENST00000480444.1_3'UTR|RNF146_ENST00000309649.3_Missense_Mutation_p.L93P|RNF146_ENST00000608991.1_Missense_Mutation_p.L93P|RNF146_ENST00000356799.2_3'UTR|RNF146_ENST00000489534.1_3'UTR|RNF146_ENST00000610153.1_Missense_Mutation_p.L94P	NM_001242850.1|NM_001242851.1	NP_001229779.1|NP_001229780.1	Q9NTX7	RN146_HUMAN	ring finger protein 146	94	WWE.				positive regulation of canonical Wnt receptor signaling pathway|protein autoubiquitination|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol	poly-ADP-D-ribose binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(226;0.0407)|all cancers(137;0.2)		CCAGAAGAACTCAAGGCAGCA	0.463													C	127608039	T	C	127608039	3	2	364	1	0	0	0	0	1	0	0	0	13539	1551	54	3	280	3	RNF146	6	127608039	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	238	127608039	43507028	5606	29108											
ECHDC1	55862	broad.mit.edu	37	chr6	127611167	127611167	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagctctaattacttcCggtggcccttggatgaattg	9	14	9	9	1	2	1	1	1	1	0	3	2	3	2	2	3	2	1	2	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127611167C>T	ENST00000531967.1	-	6	1274	c.771G>A	c.(769-771)ccG>ccA	p.P257P	ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000454591.2_Silent_p.P176P|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000309620.9_Silent_p.P234P|ECHDC1_ENST00000474289.2_Silent_p.P251P|ECHDC1_ENST00000454859.3_Silent_p.P251P|ECHDC1_ENST00000430841.2_Silent_p.P251P|ECHDC1_ENST00000368289.2_3'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	257							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		TAATTACTTCCGGTGGCCCTT	0.398													T	127611167	C	T	127611167	2	4	364	1	0	0	0	0	0	0	0	1	4932	639	23	1		1	ECHDC1	6	127611167	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3128	127611167	43503900	5607	29109											
KIAA0408	9729	broad.mit.edu	37	chr6	127768259	127768259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttacatgaagatcaggaTgagatttagcagggtgatct	13	12	11	5	0	2	4	1	3	1	2	2	6	2	5	0	2	3	1	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:127768259T>C	ENST00000483725.3	-	5	1541	c.1205A>G	c.(1204-1206)cAt>cGt	p.H402R	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	402							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		AAGATCAGGATGAGATTTAGC	0.438													C	127768259	T	C	127768259	3	2	364	1	0	0	0	0	1	0	0	0	8232	1464	51	3	887	3	KIAA0408	6	127768259	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157092	127768259	43346808	5608	29110											
PTPRK	5796	broad.mit.edu	37	chr6	128330384	128330384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtctgcttggcgggatctgGgatcacttctggttcttctg	3	16	13	9	1	6	0	1	0	5	0	6	2	6	2	0	4	1	2	0	4	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:128330384G>T	ENST00000368227.3	-	14	2590	c.2224C>A	c.(2224-2226)Cca>Aca	p.P742T	PTPRK_ENST00000524481.1_5'UTR|PTPRK_ENST00000368213.5_Missense_Mutation_p.P742T|PTPRK_ENST00000368215.3_Missense_Mutation_p.P741T|PTPRK_ENST00000368226.4_Missense_Mutation_p.P742T|PTPRK_ENST00000368210.3_Missense_Mutation_p.P742T|PTPRK_ENST00000368207.3_Missense_Mutation_p.P742T|PTPRK_ENST00000532331.1_Missense_Mutation_p.P742T			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	741					cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		GCGGGATCTGGGATCACTTCT	0.373													T	128330384	G	T	128330384	3	4	364	1	0	0	0	0	1	0	0	0	12893	1232	43	4	2188	4	PTPRK	6	128330384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	562125	128330384	42784683	5609	29111											
LAMA2	3908	broad.mit.edu	37	chr6	129571302	129571302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catttaccatatcatatgacCttgaagaagaggaagaagat	17	10	8	6	0	1	6	1	2	0	4	1	7	1	7	2	1	1	0	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129571302C>A	ENST00000421865.2	+	13	1877	c.1828C>A	c.(1828-1830)Ctt>Att	p.L610I		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	610	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATCATATGACCTTGAAGAAGA	0.413													A	129571302	C	A	129571302	3	1	364	1	0	0	0	0	1	0	0	0	8665	681	24	4	1878	4	LAMA2	6	129571302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1240918	129571302	41543765	5610	29112											
LAMA2	3908	broad.mit.edu	37	chr6	129573422	129573422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acaaatcacatacagctttgGgatggatgccatcttcaggt	12	11	9	9	0	3	0	2	0	1	0	3	2	3	2	1	3	3	1	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129573422G>A	ENST00000421865.2	+	14	2127	c.2078G>A	c.(2077-2079)gGg>gAg	p.G693E		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	693	Laminin IV type A 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TACAGCTTTGGGATGGATGCC	0.448													A	129573422	G	A	129573422	3	1	364	1	0	0	0	0	1	0	0	0	8665	1232	43	2	2132	2	LAMA2	6	129573422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2120	129573422	41541645	5611	29113											
LAMA2	3908	broad.mit.edu	37	chr6	129601266	129601266	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgtgatggatgccctgtCgggtacacaggaccacgctg	8	9	13	11	2	1	1	0	1	1	0	2	3	1	3	2	3	2	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129601266C>T	ENST00000421865.2	+	18	2560	c.2511C>T	c.(2509-2511)gtC>gtT	p.V837V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	837	Laminin EGF-like 7.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCCCTGTCGGGTACACAG	0.453													T	129601266	C	T	129601266	2	4	364	1	0	0	0	0	0	0	0	1	8665	871	31	1		1	LAMA2	6	129601266	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27844	129601266	41513801	5612	29114											
LAMA2	3908	broad.mit.edu	37	chr6	129724975	129724975	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccaccagaatccttgaTgaggctaaaaacatctcctt	13	10	5	13	0	1	3	0	2	1	1	4	3	3	3	4	1	1	1	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129724975T>C	ENST00000421865.2	+	40	5785	c.5736T>C	c.(5734-5736)gaT>gaC	p.D1912D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1912	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GAATCCTTGATGAGGCTAAAA	0.398													C	129724975	T	C	129724975	2	2	364	1	0	0	0	0	0	0	0	1	8665	1461	51	3		3	LAMA2	6	129724975	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	123709	129724975	41390092	5613	29115											
LAMA2	3908	broad.mit.edu	37	chr6	129813206	129813206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaaggctgcatatggaatCttgttattaactctgtgtaa	11	16	9	5	0	2	1	0	1	2	0	2	2	2	2	0	2	2	4	0	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129813206C>T	ENST00000421865.2	+	57	8108	c.8059C>T	c.(8059-8061)Ctt>Ttt	p.L2687F	LAMA2_ENST00000498257.1_3'UTR	NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2687	Laminin G-like 3.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.L2687I(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CATATGGAATCTTGTTATTAA	0.383													T	129813206	C	T	129813206	3	4	364	1	0	0	0	0	1	0	0	0	8665	913	32	2	8285	2	LAMA2	6	129813206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88231	129813206	41301861	5614	29116											
LAMA2	3908	broad.mit.edu	37	chr6	129835534	129835534	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagttgatgtttcatgtggAcaatggtgcgggcagattca	9	12	13	7	1	2	2	2	1	0	1	2	3	2	3	1	3	1	3	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129835534A>G	ENST00000421865.2	+	64	9054	c.9005A>G	c.(9004-9006)gAc>gGc	p.D3002G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	3002	Laminin G-like 5.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTTCATGTGGACAATGGTGCG	0.428													G	129835534	A	G	129835534	3	3	364	1	0	0	0	0	1	0	0	0	8665	275	10	3	9259	3	LAMA2	6	129835534	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22328	129835534	41279533	5615	29117											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959757	129959757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggcctctttaagccactCttcttccaattctccctcta	7	14	3	17	1	5	0	0	0	5	0	7	0	6	0	5	1	1	0	5	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:129959757C>T	ENST00000368149.2	-	3	422	c.334G>A	c.(334-336)Gag>Aag	p.E112K		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	112					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		TTAAGCCACTCTTCTTCCAAT	0.388													T	129959757	C	T	129959757	3	4	364	1	0	0	0	0	1	0	0	0	871	922	32	2	1709	2	ARHGAP18	6	129959757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124223	129959757	41155310	5616	29118											
L3MBTL3	84456	broad.mit.edu	37	chr6	130372423	130372423	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagactgggatgcctttcAggttgaaggatccagtgaaa	13	9	13	6	0	1	4	1	2	0	2	2	6	2	6	2	3	1	1	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:130372423A>C	ENST00000529410.1	+	8	798	c.319A>C	c.(319-321)Agg>Cgg	p.R107R	L3MBTL3_ENST00000368139.2_Silent_p.R82R|L3MBTL3_ENST00000361794.2_Silent_p.R107R|L3MBTL3_ENST00000533560.1_Silent_p.R82R|L3MBTL3_ENST00000526019.1_Silent_p.R82R|L3MBTL3_ENST00000368136.2_Silent_p.R107R			Q96JM7	LMBL3_HUMAN	l(3)mbt-like 3 (Drosophila)	107					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|skin(4)|stomach(1)|urinary_tract(1)	43				GBM - Glioblastoma multiforme(226;0.0266)|OV - Ovarian serous cystadenocarcinoma(155;0.154)		GATGCCTTTCAGGTTGAAGGA	0.388													C	130372423	A	C	130372423	2	2	364	1	0	0	0	0	0	0	0	1	8652	179	7	5		5	L3MBTL3	6	130372423	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	412666	130372423	40742644	5617	29119											
EPB41L2	2037	broad.mit.edu	37	chr6	131225615	131225615	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaagtacctggtgatatCttcagtcaattgagaaggat	14	13	9	5	0	3	2	2	2	1	1	3	4	3	3	1	2	1	1	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131225615C>A	ENST00000337057.3	-	6	1100	c.919G>T	c.(919-921)Gat>Tat	p.D307Y	EPB41L2_ENST00000525271.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000525193.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530481.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000528282.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000392427.3_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527659.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000445890.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000527411.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000368128.2_Missense_Mutation_p.D307Y|EPB41L2_ENST00000529208.1_Missense_Mutation_p.D307Y|EPB41L2_ENST00000530148.1_5'UTR	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	307	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGGTGATATCTTCAGTCAAT	0.353													A	131225615	C	A	131225615	3	1	364	1	0	0	0	0	1	0	0	0	5194	913	32	4	2154	4	EPB41L2	6	131225615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	853192	131225615	39889452	5618	29120											
AKAP7	9465	broad.mit.edu	37	chr6	131490380	131490380	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtgaagctggcagaaGgagatcatgtaaactcactt	13	11	11	6	0	2	3	2	1	0	2	2	5	2	3	0	2	2	3	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131490380G>T	ENST00000431975.2	+	5	654	c.556G>T	c.(556-558)Gga>Tga	p.G186*	AKAP7_ENST00000368123.4_Nonsense_Mutation_p.G164*|AKAP7_ENST00000366358.2_Intron|AKAP7_ENST00000541650.1_Nonsense_Mutation_p.G185*	NM_016377.3	NP_057461.2	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	0					intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		GCTGGCAGAAGGAGATCATGT	0.383													T	131490380	G	T	131490380	4	4	364	1	0	0	0	0	0	1	0	0	456	1001	35	4	504	4	AKAP7	6	131490380	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264765	131490380	39624687	5619	29121											
ARG1	383	broad.mit.edu	37	chr6	131904949	131904949	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaccagaagaagtaacTcgaacagtgaacacagcagt	19	4	9	9	1	0	4	0	1	0	3	1	5	0	4	1	0	4	2	1	0	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131904949T>C	ENST00000368087.3	+	8	1009	c.870T>C	c.(868-870)acT>acC	p.T290T	MED23_ENST00000354577.4_Intron|ARG1_ENST00000356962.2_Silent_p.T298T			P05089	ARGI1_HUMAN	arginase 1	290			T -> S (could be a polymorphism).		arginine catabolic process|urea cycle	cytosol	arginase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|skin(3)	14	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0106)|OV - Ovarian serous cystadenocarcinoma(155;0.0713)	L-Ornithine(DB00129)	AAGAAGTAACTCGAACAGTGA	0.413													C	131904949	T	C	131904949	2	2	364	1	0	0	0	0	0	0	0	1	860	1538	54	3		3	ARG1	6	131904949	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	414569	131904949	39210118	5620	29122											
MED23	9439	broad.mit.edu	37	chr6	131929180	131929180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacccacataagatgaTctctgcctttaatcagtcct	12	11	7	11	0	2	3	1	1	1	2	4	4	3	3	3	1	2	0	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:131929180T>G	ENST00000403834.3	-	12	1300	c.1127A>C	c.(1126-1128)gAt>gCt	p.D376A	MED23_ENST00000368053.4_Missense_Mutation_p.D376A|MED23_ENST00000368058.1_Missense_Mutation_p.D376A|MED23_ENST00000354577.4_Missense_Mutation_p.D376A|MED23_ENST00000368068.3_Missense_Mutation_p.D370A|MED23_ENST00000539158.1_Missense_Mutation_p.D370A|MED23_ENST00000368060.3_Missense_Mutation_p.D370A|MED23_ENST00000545957.1_Intron|MED23_ENST00000540546.1_Missense_Mutation_p.D376A			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	370					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CATAAGATGATCTCTGCCTTT	0.373													G	131929180	T	G	131929180	3	3	364	1	0	0	0	0	1	0	0	0	9516	1435	50	5	3076	5	MED23	6	131929180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24231	131929180	39185887	5621	29123											
ENPP1	5167	broad.mit.edu	37	chr6	132211485	132211485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcctattctcctagcatgGgaagcatgactcctcatggg	8	13	9	11	0	2	1	1	1	1	0	5	2	4	2	3	2	2	2	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132211485G>T	ENST00000360971.2	+	25	2632	c.2612G>T	c.(2611-2613)gGg>gTg	p.G871V		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	871	Nuclease.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TCCTAGCATGGGAAGCATGAC	0.398													T	132211485	G	T	132211485	3	4	364	1	0	0	0	0	1	0	0	0	5170	1232	43	4	2710	4	ENPP1	6	132211485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282305	132211485	38903582	5622	29124											
CTGF	1490	broad.mit.edu	37	chr6	132270531	132270531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatgacctcgccgtcaGggcacttgaactccaccggc	7	9	9	16	3	3	2	2	2	1	0	5	2	4	2	4	2	1	1	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132270531G>T	ENST00000367976.3	-	5	1123	c.923C>A	c.(922-924)cCt>cAt	p.P308H		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	308	CTCK.|Heparin-binding.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		CTCGCCGTCAGGGCACTTGAA	0.522													T	132270531	G	T	132270531	3	4	364	1	0	0	0	0	1	0	0	0	4041	1000	35	4	130	4	CTGF	6	132270531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59046	132270531	38844536	5623	29125											
MOXD1	26002	broad.mit.edu	37	chr6	132618927	132618927	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggttaaaaagagcttaccGaccactcagcattgtctgtc	12	10	9	10	1	2	1	1	0	1	1	3	3	2	1	2	1	3	3	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132618927G>A	ENST00000367963.3	-	11	1794	c.1676C>T	c.(1675-1677)tCg>tTg	p.S559L	MOXD1_ENST00000336749.3_Splice_Site_p.S491L	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	559					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity	p.S491L(1)|p.S559L(1)		breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		AGAGCTTACCGACCACTCAGC	0.418													A	132618927	G	A	132618927	5	1	364	1	0	0	0	0	0	0	1	0	9796	1072	37	1	173	1	MOXD1	6	132618927	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348396	132618927	38496140	5624	29126											
MOXD1	26002	broad.mit.edu	37	chr6	132695805	132695805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttatgtcacatgtatgcaGctctctggtaaattcaatta	12	16	6	7	0	3	0	2	0	1	0	4	0	3	0	0	1	2	4	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132695805G>T	ENST00000367963.3	-	2	494	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	MOXD1_ENST00000336749.3_Missense_Mutation_p.L58M	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	126	DOMON.				catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CATGTATGCAGCTCTCTGGTA	0.343													T	132695805	G	T	132695805	3	4	364	1	0	0	0	0	1	0	0	0	9796	962	34	4	1509	4	MOXD1	6	132695805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76878	132695805	38419262	5625	29127											
TAAR6	319100	broad.mit.edu	37	chr6	132892264	132892264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacagtggtagcatttatGatttcatggttaccatatag	11	15	9	6	0	2	1	2	1	0	0	2	1	2	1	1	2	2	3	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132892264G>A	ENST00000275198.1	+	1	804	c.804G>A	c.(802-804)atG>atA	p.M268I		NM_175067.1	NP_778237.1	Q96RI8	TAAR6_HUMAN	trace amine associated receptor 6	268						plasma membrane	G-protein coupled receptor activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(19)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.006)|GBM - Glioblastoma multiforme(226;0.00792)		TAGCATTTATGATTTCATGGT	0.418													A	132892264	G	A	132892264	3	1	364	1	0	0	0	0	1	0	0	0	15589	1290	45	2	806	2	TAAR6	6	132892264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196459	132892264	38222803	5626	29128											
TAAR5	9038	broad.mit.edu	37	chr6	132910361	132910361	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcaccccccatcctgccagGatgtacctgagagccaccct	8	6	9	18	0	0	1	0	1	0	1	1	3	1	2	8	2	3	2	8	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:132910361G>T	ENST00000258034.2	-	1	516	c.465C>A	c.(463-465)atC>atA	p.I155I		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	155					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		ATCCTGCCAGGATGTACCTGA	0.542													T	132910361	G	T	132910361	2	4	364	1	0	0	0	0	0	0	0	1	15588	1164	41	4		4	TAAR5	6	132910361	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18097	132910361	38204706	5627	29129											
RPS12	6206	broad.mit.edu	37	chr6	133138166	133138166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacagagaggggaaaccccGtaaagtggttggttgcagtt	11	9	15	6	1	0	2	0	1	0	1	0	4	0	3	2	4	2	5	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:133138166G>A	ENST00000230050.3	+	5	512	c.302G>A	c.(301-303)cGt>cAt	p.R101H		NM_001016.3	NP_001007.2	P25398	RS12_HUMAN	ribosomal protein S12	101					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	structural constituent of ribosome			endometrium(1)|kidney(13)|lung(3)|urinary_tract(1)	18	Breast(56;0.214)			OV - Ovarian serous cystadenocarcinoma(155;0.00284)|GBM - Glioblastoma multiforme(226;0.0256)		GGGAAACCCCGTAAAGTGGTT	0.373													A	133138166	G	A	133138166	3	1	364	1	0	0	0	0	1	0	0	0	13713	1145	40	1	316	1	RPS12	6	133138166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	227805	133138166	37976901	5628	29130											
TCF21	6943	broad.mit.edu	37	chr6	134210781	134210781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaagcaggtccagcgcaaCgccgccaacgcgcgagagcg	10	1	16	14	7	0	1	0	0	0	1	1	3	1	2	3	2	5	2	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134210781C>T	ENST00000367882.4	+	1	506	c.246C>T	c.(244-246)aaC>aaT	p.N82N	RP3-323P13.2_ENST00000607573.1_RNA|TCF21_ENST00000237316.3_Silent_p.N82N	NM_003206.3	NP_003197.2	O43680	TCF21_HUMAN	transcription factor 21	82					branching involved in ureteric bud morphogenesis|mesoderm development|negative regulation of androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	androgen receptor binding|E-box binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity	p.N82N(1)		cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	13	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00518)|OV - Ovarian serous cystadenocarcinoma(155;0.00783)		TCCAGCGCAACGCCGCCAACG	0.701													T	134210781	C	T	134210781	2	4	364	1	0	0	0	0	0	0	0	1	15791	535	19	1		1	TCF21	6	134210781	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1072615	134210781	36904286	5629	29131											
TBPL1	9519	broad.mit.edu	37	chr6	134301387	134301387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcaaatgtaatttataaaCgtgatgttggagtaagtatc	15	13	10	3	1	0	1	0	1	0	0	1	3	0	2	0	1	2	5	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134301387C>T	ENST00000237264.4	+	2	399	c.124C>T	c.(124-126)Cgt>Tgt	p.R42C	TBPL1_ENST00000367871.1_Missense_Mutation_p.R42C	NM_001253676.1|NM_004865.3	NP_001240605.1|NP_004856.1	P62380	TBPL1_HUMAN	TBP-like 1	42					regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	cytoplasm	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	6	Colorectal(23;0.221)|Breast(56;0.247)			GBM - Glioblastoma multiforme(68;0.00591)|OV - Ovarian serous cystadenocarcinoma(155;0.00848)		AATTTATAAACGTGATGTTGG	0.289													T	134301387	C	T	134301387	3	4	364	1	0	0	0	0	1	0	0	0	15745	536	19	1	126	1	TBPL1	6	134301387	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90606	134301387	36813680	5630	29132											
SLC2A12	154091	broad.mit.edu	37	chr6	134323202	134323202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtataaacataacaaCaaaaagcagggatgctagac	19	6	8	8	0	1	1	1	0	0	1	1	2	1	2	0	2	5	3	0	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134323202C>T	ENST00000275230.5	-	4	1788	c.1633G>A	c.(1633-1635)Gtt>Att	p.V545I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	545						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AACATAACAACAAAAAGCAGG	0.348													T	134323202	C	T	134323202	3	4	364	1	0	0	0	0	1	0	0	0	14635	478	17	2	228	2	SLC2A12	6	134323202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21815	134323202	36791865	5631	29133											
SLC2A12	154091	broad.mit.edu	37	chr6	134350230	134350230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagttcctcagttgtatCtgagagtgctcttaaccttc	8	15	9	9	0	3	2	1	2	2	1	5	3	4	2	2	0	2	4	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350230C>A	ENST00000275230.5	-	2	888	c.733G>T	c.(733-735)Gat>Tat	p.D245Y		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	245						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		TCAGTTGTATCTGAGAGTGCT	0.443													A	134350230	C	A	134350230	3	1	364	1	0	0	0	0	1	0	0	0	14635	913	32	4	1136	4	SLC2A12	6	134350230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27028	134350230	36764837	5632	29134											
SLC2A12	154091	broad.mit.edu	37	chr6	134350472	134350472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgacacaagaaggcctCttctgtgttgaggagcaatc	11	10	11	9	0	3	3	1	2	2	1	4	4	3	4	1	2	1	2	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134350472C>A	ENST00000275230.5	-	2	646	c.491G>T	c.(490-492)aGa>aTa	p.R164I		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	164						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGAAGGCCTCTTCTGTGTTG	0.458													A	134350472	C	A	134350472	3	1	364	1	0	0	0	0	1	0	0	0	14635	913	32	4	1378	4	SLC2A12	6	134350472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	242	134350472	36764595	5633	29135											
SGK1	6446	broad.mit.edu	37	chr6	134491471	134491471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcggcagcttccttgaCgctggctgtgacgaggacgc	6	8	14	13	4	0	2	0	2	0	0	2	4	1	3	2	3	2	4	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134491471C>T	ENST00000367858.5	-	14	2113	c.1516G>A	c.(1516-1518)Gtc>Atc	p.V506I	SGK1_ENST00000237305.7_Missense_Mutation_p.V411I|SGK1_ENST00000475719.2_Missense_Mutation_p.V367I|SGK1_ENST00000367857.5_Missense_Mutation_p.V401I|SGK1_ENST00000413996.3_Missense_Mutation_p.V425I|SGK1_ENST00000528577.1_Missense_Mutation_p.V439I	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	411					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GCTTCCTTGACGCTGGCTGTG	0.552													T	134491471	C	T	134491471	3	4	364	1	0	0	0	0	1	0	0	0	14300	536	19	1	68	1	SGK1	6	134491471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140999	134491471	36623596	5634	29136											
SGK1	6446	broad.mit.edu	37	chr6	134493435	134493435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctgtgaatctagcaaaaTattctctggttttaagtctc	10	16	6	9	0	3	1	0	1	3	0	6	1	4	1	1	1	1	2	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134493435T>C	ENST00000367858.5	-	10	1564	c.967A>G	c.(967-969)Att>Gtt	p.I323V	SGK1_ENST00000237305.7_Missense_Mutation_p.I228V|SGK1_ENST00000475719.2_Missense_Mutation_p.I184V|SGK1_ENST00000367857.5_Missense_Mutation_p.I218V|SGK1_ENST00000413996.3_Missense_Mutation_p.I242V|SGK1_ENST00000489458.2_5'UTR|SGK1_ENST00000528577.1_Missense_Mutation_p.I256V	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	228	Protein kinase.				apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TCTAGCAAAATATTCTCTGGT	0.383													C	134493435	T	C	134493435	3	2	364	1	0	0	0	0	1	0	0	0	14300	1406	49	3	633	3	SGK1	6	134493435	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1964	134493435	36621632	5635	29137											
SGK1	6446	broad.mit.edu	37	chr6	134583151	134583151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaagcatgttcacccaGgcatgtttgacacaaggaag	13	9	11	8	0	1	1	1	1	0	0	1	3	1	3	1	3	1	4	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:134583151G>T	ENST00000367858.5	-	2	802	c.205C>A	c.(205-207)Ctg>Atg	p.L69M	SGK1_ENST00000524929.1_Missense_Mutation_p.L69M	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	0					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		TGTTCACCCAGGCATGTTTGA	0.527													T	134583151	G	T	134583151	3	4	364	1	0	0	0	0	1	0	0	0	14300	991	35	4	1793	4	SGK1	6	134583151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89716	134583151	36531916	5636	29138											
ALDH8A1	64577	broad.mit.edu	37	chr6	135250346	135250346	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctggtacagagacagAtttcaccctgccaagaatga	12	9	9	11	0	1	4	1	1	0	3	2	5	2	4	3	1	3	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135250346A>C	ENST00000265605.2	-	6	925	c.857T>G	c.(856-858)aTc>aGc	p.I286S	ALDH8A1_ENST00000367847.2_Missense_Mutation_p.I236S|ALDH8A1_ENST00000367845.2_Intron	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	286					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		ACAGAGACAGATTTCACCCTG	0.463													C	135250346	A	C	135250346	3	2	364	1	0	0	0	0	1	0	0	0	505	333	12	5	614	5	ALDH8A1	6	135250346	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	667195	135250346	35864721	5637	29139											
MYB	4602	broad.mit.edu	37	chr6	135515004	135515004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttccataccctgtagCgttacatgtaaatatagtca	12	14	6	9	1	2	0	2	0	0	0	3	0	3	0	2	0	3	4	2	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135515004C>T	ENST00000341911.5	+	7	990	c.791C>T	c.(790-792)gCg>gTg	p.A264V	MYB_ENST00000442647.2_Missense_Mutation_p.A264V|MYB_ENST00000533624.1_Missense_Mutation_p.A264V|MYB_ENST00000534121.1_Missense_Mutation_p.A264V|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000316528.8_Missense_Mutation_p.A264V|MYB_ENST00000534044.1_Missense_Mutation_p.A264V|MYB_ENST00000367814.4_Missense_Mutation_p.A264V|MYB_ENST00000528774.1_Missense_Mutation_p.A264V|MYB_ENST00000527615.1_Missense_Mutation_p.A264V|MYB_ENST00000420123.2_Missense_Mutation_p.A240V|MYB_ENST00000525369.1_Missense_Mutation_p.A264V	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	264					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TACCCTGTAGCGTTACATGTA	0.448			T	NFIB	adenoid cystic carcinoma								T	135515004	C	T	135515004	3	4	364	1	0	0	0	0	1	0	0	0	10083	768	27	1	817	1	MYB	6	135515004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264658	135515004	35600063	5638	29140											
MYB	4602	broad.mit.edu	37	chr6	135518458	135518458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctacccttctctccctcGcaggtagaacacaatttctg	9	11	6	15	1	2	1	0	0	2	1	5	1	3	1	3	1	3	2	3	1	4	4	rs55983257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135518458G>A	ENST00000341911.5	+	10	1762	c.1563G>A	c.(1561-1563)tcG>tcA	p.S521S	MYB_ENST00000442647.2_Intron|MYB_ENST00000533624.1_Intron|MYB_ENST00000534121.1_Silent_p.S505S|MYB_ENST00000531845.1_Intron|MYB_ENST00000316528.8_Intron|MYB_ENST00000534044.1_Intron|MYB_ENST00000367814.4_Intron|MYB_ENST00000528774.1_Silent_p.S518S|MYB_ENST00000527615.1_Intron|MYB_ENST00000525369.1_Intron	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	468					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TCTCTCCCTCGCAGGTAGAAC	0.453			T	NFIB	adenoid cystic carcinoma								A	135518458	G	A	135518458	2	1	364	1	0	0	0	0	0	0	0	1	10083	1074	38	1		1	MYB	6	135518458	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3454	135518458	35596609	5639	29141											
AHI1	54806	broad.mit.edu	37	chr6	135732581	135732581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaaaagagccttgatgggGtagttttggacaggtacata	12	11	13	5	0	0	3	0	2	0	1	0	4	0	4	1	4	2	3	1	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135732581G>A	ENST00000367800.4	-	19	3082	c.2866C>T	c.(2866-2868)Ccc>Tcc	p.P956S	AHI1_ENST00000327035.6_Missense_Mutation_p.P956S|AHI1_ENST00000417892.2_Missense_Mutation_p.P310S|AHI1_ENST00000457866.2_Missense_Mutation_p.P956S	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	956						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CCTTGATGGGGTAGTTTTGGA	0.428													A	135732581	G	A	135732581	3	1	364	1	0	0	0	0	1	0	0	0	413	1261	44	2	817	2	AHI1	6	135732581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214123	135732581	35382486	5640	29142											
AHI1	54806	broad.mit.edu	37	chr6	135787489	135787489	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtttctttaatatggggaAgattgcttctaatagtgtcg	10	17	10	4	1	2	1	0	0	2	1	3	2	2	2	0	2	1	2	0	2	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135787489A>T	ENST00000367800.4	-	5	428	c.212T>A	c.(211-213)cTt>cAt	p.L71H	AHI1_ENST00000327035.6_Missense_Mutation_p.L71H|AHI1_ENST00000457866.2_Missense_Mutation_p.L71H	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	71						adherens junction|cilium|microtubule basal body		p.L71P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		AATATGGGGAAGATTGCTTCT	0.328													T	135787489	A	T	135787489	3	4	364	1	0	0	0	0	1	0	0	0	413	72	3	5	3527	5	AHI1	6	135787489	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54908	135787489	35327578	5641	29143											
AHI1	54806	broad.mit.edu	37	chr6	135788751	135788751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttctttcatatagtgaaGattgcttctaatagtgtcag	11	17	8	5	0	4	2	2	1	2	1	4	2	4	2	0	0	1	2	0	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:135788751G>T	ENST00000367800.4	-	4	373	c.157C>A	c.(157-159)Ctt>Att	p.L53I	AHI1_ENST00000327035.6_Missense_Mutation_p.L53I|AHI1_ENST00000457866.2_Missense_Mutation_p.L53I	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	53						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATATAGTGAAGATTGCTTCTA	0.328													T	135788751	G	T	135788751	3	4	364	1	0	0	0	0	1	0	0	0	413	942	33	4	3586	4	AHI1	6	135788751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1262	135788751	35326316	5642	29144											
PDE7B	27115	broad.mit.edu	37	chr6	136495026	136495026	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttgccaaaggaaatgaCgtaagtgctgccgagatgaa	14	9	11	7	2	1	3	1	2	0	1	1	5	1	4	2	1	3	2	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136495026C>T	ENST00000308191.6	+	9	1106	c.803C>T	c.(802-804)aCa>aTa	p.T268I	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	268	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding	p.T268I(1)		breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	AAGGAAATGACGTAAGTGCTG	0.458													T	136495026	C	T	136495026	5	4	364	1	0	0	0	0	0	0	1	0	11728	550	19	1	837	1	PDE7B	6	136495026	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706275	136495026	34620041	5643	29145											
BCLAF1	9774	broad.mit.edu	37	chr6	136582540	136582540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgaagttaaagcgccCtctgccacgttgaaaagtac	11	13	8	9	2	1	2	0	2	1	0	1	2	1	2	2	0	3	3	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136582540C>A	ENST00000531224.1	-	12	2872	c.2620G>T	c.(2620-2622)Ggg>Tgg	p.G874W	BCLAF1_ENST00000527759.1_Missense_Mutation_p.G872W|BCLAF1_ENST00000392348.2_Missense_Mutation_p.G823W|BCLAF1_ENST00000529917.1_5'UTR|BCLAF1_ENST00000353331.4_Missense_Mutation_p.G823W|BCLAF1_ENST00000530767.1_Missense_Mutation_p.G701W|BCLAF1_ENST00000031135.9_Missense_Mutation_p.G92W|BCLAF1_ENST00000527536.1_Missense_Mutation_p.G825W	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	874					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TTAAAGCGCCCTCTGCCACGT	0.423													A	136582540	C	A	136582540	3	1	364	1	0	0	0	0	1	0	0	0	1388	681	24	4	150	4	BCLAF1	6	136582540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87514	136582540	34532527	5644	29146											
MAP7	9053	broad.mit.edu	37	chr6	136698913	136698913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttctccagacaaggcaGctgtgcttttacttctggcc	6	13	9	13	0	2	1	0	0	2	1	3	1	2	1	2	2	4	4	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:136698913G>T	ENST00000354570.3	-	7	1141	c.731C>A	c.(730-732)gCt>gAt	p.A244D	MAP7_ENST00000432797.2_Missense_Mutation_p.A98D|MAP7_ENST00000544465.1_Missense_Mutation_p.A229D|MAP7_ENST00000438100.2_Missense_Mutation_p.A229D|MAP7_ENST00000454590.1_Missense_Mutation_p.A266D	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	244					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AGACAAGGCAGCTGTGCTTTT	0.517													T	136698913	G	T	136698913	3	4	364	1	0	0	0	0	1	0	0	0	9341	971	34	4	1566	4	MAP7	6	136698913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116373	136698913	34416154	5645	29147											
PEX7	5191	broad.mit.edu	37	chr6	137193348	137193348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtagttttcaccatttCatgcttctgtgctggcctct	4	20	7	10	0	4	0	2	0	2	0	4	0	4	0	2	1	2	4	2	1	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137193348C>A	ENST00000318471.4	+	8	841	c.760C>A	c.(760-762)Cat>Aat	p.H254N	PEX7_ENST00000541292.1_3'UTR	NM_000288.3	NP_000279.1	O00628	PEX7_HUMAN	peroxisomal biogenesis factor 7	254					ether lipid biosynthetic process|protein import into peroxisome matrix	peroxisome	peroxisome matrix targeting signal-2 binding			lung(7)|prostate(1)	8	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000257)|OV - Ovarian serous cystadenocarcinoma(155;0.00492)		TTCACCATTTCATGCTTCTGT	0.318													A	137193348	C	A	137193348	3	1	364	1	0	0	0	0	1	0	0	0	11828	826	29	4	790	4	PEX7	6	137193348	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494435	137193348	33921719	5646	29148											
SLC35D3	340146	broad.mit.edu	37	chr6	137245552	137245552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctcggggagaggaggcGcagctaagtggagaccagct	10	4	17	10	2	0	2	0	0	0	2	1	5	0	3	2	5	3	3	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137245552G>A	ENST00000331858.4	+	2	1134	c.969G>A	c.(967-969)gcG>gcA	p.A323A		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	323					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		GAGAGGAGGCGCAGCTAAGTG	0.622													A	137245552	G	A	137245552	2	1	364	1	0	0	0	0	0	0	0	1	14677	1074	38	1		1	SLC35D3	6	137245552	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52204	137245552	33869515	5647	29149											
IL20RA	53832	broad.mit.edu	37	chr6	137330486	137330486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtattcaacacagacaCgttatacttcagattggagt	13	14	7	7	1	2	2	2	0	0	2	2	3	2	3	0	1	2	2	0	1	5	8	rs143005532	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137330486C>T	ENST00000367748.1	-	3	800	c.214G>A	c.(214-216)Gtg>Atg	p.V72M	IL20RA_ENST00000316649.5_Missense_Mutation_p.V183M|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Missense_Mutation_p.V183M|IL20RA_ENST00000541547.1_Missense_Mutation_p.V134M	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	183	Fibronectin type-III 1.					integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		AACACAGACACGTTATACTTC	0.418													T	137330486	C	T	137330486	3	4	364	1	0	0	0	0	1	0	0	0	7726	536	19	1	1130	1	IL20RA	6	137330486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84934	137330486	33784581	5648	29150											
IL20RA	53832	broad.mit.edu	37	chr6	137338236	137338236	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaccaccagagacacaGggaactgaaaaaggagcaga	19	1	12	9	0	0	3	0	1	0	2	0	6	0	5	2	3	3	2	2	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:137338236G>T	ENST00000367748.1	-	0	525				IL20RA_ENST00000316649.5_Silent_p.P31P|IL20RA_ENST00000468393.1_5'UTR|IL20RA_ENST00000367746.3_Silent_p.P31P|IL20RA_ENST00000541547.1_De_novo_Start_OutOfFrame	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha							integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CAGAGACACAGGGAACTGAAA	0.463													T	137338236	G	T	137338236	1	4	364	1	0	0	0	0	0	0	0	0	7726	987	35	4		4	IL20RA	6	137338236	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7750	137338236	33776831	5649	29151											
KIAA1244	57221	broad.mit.edu	37	chr6	138576703	138576703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctccgggagtgtctgacCacggccgaggatcaggctgc	6	7	15	13	4	3	1	1	1	2	0	4	4	3	3	3	4	1	1	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138576703C>A	ENST00000251691.4	+	10	1067	c.901C>A	c.(901-903)Cac>Aac	p.H301N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	301					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGTGTCTGACCACGGCCGAGG	0.617													A	138576703	C	A	138576703	3	1	364	1	0	0	0	0	1	0	0	0	8275	594	21	4	939	4	KIAA1244	6	138576703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1238467	138576703	32538364	5650	29152											
KIAA1244	57221	broad.mit.edu	37	chr6	138584261	138584261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccagagggtaaggagacGctgagcaaagtattggaaac	15	6	13	7	1	0	3	0	1	0	2	1	5	1	4	1	3	2	4	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138584261G>A	ENST00000251691.4	+	12	1807	c.1641G>A	c.(1639-1641)acG>acA	p.T547T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	547					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GTAAGGAGACGCTGAGCAAAG	0.542													A	138584261	G	A	138584261	2	1	364	1	0	0	0	0	0	0	0	1	8275	1074	38	1		1	KIAA1244	6	138584261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7558	138584261	32530806	5651	29153											
KIAA1244	57221	broad.mit.edu	37	chr6	138599732	138599732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactactacaggaagcggcCgaccctggcgccaggcgtga	9	5	14	13	4	0	2	0	2	0	0	0	4	0	3	3	4	3	0	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:138599732C>T	ENST00000251691.4	+	13	2439	c.2273C>T	c.(2272-2274)cCg>cTg	p.P758L		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	758	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGGAAGCGGCCGACCCTGGCG	0.607													T	138599732	C	T	138599732	3	4	364	1	0	0	0	0	1	0	0	0	8275	652	23	1	2323	1	KIAA1244	6	138599732	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15471	138599732	32515335	5652	29154											
ECT2L	345930	broad.mit.edu	37	chr6	139164158	139164158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttaagttcggatggtttCtgccctatactccaacagat	9	13	9	10	2	1	1	0	0	1	1	3	2	2	2	2	2	3	3	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164158C>A	ENST00000423192.1	+	5	546	c.385C>A	c.(385-387)Ctg>Atg	p.L129M	ECT2L_ENST00000541398.1_Missense_Mutation_p.L60M|ECT2L_ENST00000367682.2_Missense_Mutation_p.L129M			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	129					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CGGATGGTTTCTGCCCTATAC	0.448			"N, Splice, Mis"		ETP ALL								A	139164158	C	A	139164158	3	1	364	1	0	0	0	0	1	0	0	0	4941	912	32	4	399	4	ECT2L	6	139164158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564426	139164158	31950909	5653	29155											
ECT2L	345930	broad.mit.edu	37	chr6	139164320	139164320	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactactggagagacaaagaGaaaagtgcctgaggaaaaga	20	4	12	5	0	0	4	0	1	0	3	0	8	0	6	1	2	3	0	1	2	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139164320G>T	ENST00000423192.1	+	5	708	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	ECT2L_ENST00000541398.1_Nonsense_Mutation_p.E114*|ECT2L_ENST00000367682.2_Nonsense_Mutation_p.E183*			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	183					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GAGACAAAGAGAAAAGTGCCT	0.408			"N, Splice, Mis"		ETP ALL								T	139164320	G	T	139164320	4	4	364	1	0	0	0	0	0	1	0	0	4941	943	33	4	561	4	ECT2L	6	139164320	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162	139164320	31950747	5654	29156											
ECT2L	345930	broad.mit.edu	37	chr6	139202188	139202188	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacgtgcagatactggaaaTtgtgagagatgtttatgtcg	12	13	12	4	2	0	3	0	1	0	2	1	5	0	4	0	1	3	2	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139202188T>G	ENST00000423192.1	+	14	1921	c.1760T>G	c.(1759-1761)aTt>aGt	p.I587S	ECT2L_ENST00000541398.1_Missense_Mutation_p.I518S|ECT2L_ENST00000367682.2_Missense_Mutation_p.I587S			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	587	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						ATACTGGAAATTGTGAGAGAT	0.428			"N, Splice, Mis"		ETP ALL								G	139202188	T	G	139202188	3	3	364	1	0	0	0	0	1	0	0	0	4941	1493	52	5	1810	5	ECT2L	6	139202188	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37868	139202188	31912879	5655	29157											
ECT2L	345930	broad.mit.edu	37	chr6	139222212	139222212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagttcattgcatcaGtggcccttcatcggttactc	7	13	7	14	1	3	0	3	0	0	0	5	0	3	0	3	2	3	3	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139222212G>T	ENST00000423192.1	+	20	2703	c.2542G>T	c.(2542-2544)Gtg>Ttg	p.V848L	ECT2L_ENST00000541398.1_Missense_Mutation_p.V702L|ECT2L_ENST00000367682.2_Missense_Mutation_p.V848L			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	848					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CATTGCATCAGTGGCCCTTCA	0.408			"N, Splice, Mis"		ETP ALL								T	139222212	G	T	139222212	3	4	364	1	0	0	0	0	1	0	0	0	4941	1029	36	4	2616	4	ECT2L	6	139222212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20024	139222212	31892855	5656	29158											
REPS1	85021	broad.mit.edu	37	chr6	139266781	139266781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatatgaggctgcatggcGagattcctgttcattctttg	9	14	11	7	1	2	3	1	1	1	2	3	4	3	3	1	2	1	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139266781G>A	ENST00000450536.2	-	3	905	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C	REPS1_ENST00000258062.5_Missense_Mutation_p.R111C|REPS1_ENST00000409812.2_Missense_Mutation_p.R111C|REPS1_ENST00000367663.4_Missense_Mutation_p.R111C|REPS1_ENST00000415951.2_Missense_Mutation_p.R111C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	111	EH 1.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GCTGCATGGCGAGATTCCTGT	0.413													A	139266781	G	A	139266781	3	1	364	1	0	0	0	0	1	0	0	0	13316	1058	37	1	2131	1	REPS1	6	139266781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44569	139266781	31848286	5657	29159											
REPS1	85021	broad.mit.edu	37	chr6	139269016	139269016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaactgacttcttccaaaaTaaccaagtcttgttgcacca	14	11	5	11	0	2	2	0	1	2	1	3	2	3	2	3	0	3	2	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139269016T>C	ENST00000450536.2	-	2	762	c.188A>G	c.(187-189)tAt>tGt	p.Y63C	REPS1_ENST00000258062.5_Missense_Mutation_p.Y63C|REPS1_ENST00000409812.2_Missense_Mutation_p.Y63C|REPS1_ENST00000367663.4_Missense_Mutation_p.Y63C|REPS1_ENST00000415951.2_Missense_Mutation_p.Y63C			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	63	EH 1.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCTTCCAAAATAACCAAGTCT	0.338													C	139269016	T	C	139269016	3	2	364	1	0	0	0	0	1	0	0	0	13316	1406	49	3	2278	3	REPS1	6	139269016	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2235	139269016	31846051	5658	29160											
HECA	51696	broad.mit.edu	37	chr6	139487642	139487642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccgccagaacatgtggAcaaagaagggctacgacctg	14	5	12	10	2	0	2	0	0	0	2	0	4	0	3	3	2	3	1	3	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139487642A>G	ENST00000367658.2	+	2	778	c.493A>G	c.(493-495)Aca>Gca	p.T165A	RP1-225E12.2_ENST00000586266.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	165					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		GAACATGTGGACAAAGAAGGG	0.592													G	139487642	A	G	139487642	3	3	364	1	0	0	0	0	1	0	0	0	7093	275	10	3	499	3	HECA	6	139487642	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	218626	139487642	31627425	5659	29161											
CITED2	10370	broad.mit.edu	37	chr6	139694780	139694780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccctggctggccaccgggGgacccatgaactgggagttg	6	7	15	13	1	0	1	0	1	0	0	1	3	1	3	4	5	1	2	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:139694780G>A	ENST00000367651.2	-	2	517	c.302C>T	c.(301-303)cCc>cTc	p.P101L	CITED2_ENST00000537332.1_Missense_Mutation_p.P101L|CITED2_ENST00000536159.1_Missense_Mutation_p.P101L	NM_006079.4	NP_006070.2	Q99967	CITE2_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2	101					adrenal cortex formation|anti-apoptosis|cell proliferation|determination of left/right symmetry|heart development|liver development|negative regulation of cell migration|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell cycle|positive regulation of cell-cell adhesion|positive regulation of male gonad development|positive regulation of peroxisome proliferator activated receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of organ formation|response to estrogen stimulus|response to fluid shear stress|response to hypoxia|sex determination	cytoplasm|nuclear chromatin|nucleus	chromatin binding|LBD domain binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			large_intestine(1)|lung(4)	5	Breast(32;0.226)			GBM - Glioblastoma multiforme(68;0.000171)|OV - Ovarian serous cystadenocarcinoma(155;0.00134)		GGCCACCGGGGGACCCATGAA	0.657													A	139694780	G	A	139694780	3	1	364	1	0	0	0	0	1	0	0	0	3471	1232	43	2	514	2	CITED2	6	139694780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207138	139694780	31420287	5660	29162											
NMBR	4829	broad.mit.edu	37	chr6	142397024	142397024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagaattgccaaaactgaGaacccgggcaactaaggtga	17	5	10	9	1	0	3	0	2	0	2	0	4	0	3	2	2	4	1	2	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142397024G>T	ENST00000258042.1	-	3	1074	c.934C>A	c.(934-936)Ctc>Atc	p.L312I	NMBR_ENST00000480652.1_5'UTR	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	312					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CCAAAACTGAGAACCCGGGCA	0.443													T	142397024	G	T	142397024	3	4	364	1	0	0	0	0	1	0	0	0	10563	942	33	4	242	4	NMBR	6	142397024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2702244	142397024	28718043	5661	29163											
NMBR	4829	broad.mit.edu	37	chr6	142409507	142409507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgaggcgtccaccgggaCgcaggtgagcagcagcagca	9	2	17	13	5	0	1	0	1	0	0	1	3	1	2	2	3	4	5	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142409507C>T	ENST00000258042.1	-	1	429	c.289G>A	c.(289-291)Gtc>Atc	p.V97I	RP11-137J7.2_ENST00000454401.1_RNA	NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	97					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		TCCACCGGGACGCAGGTGAGC	0.592													T	142409507	C	T	142409507	3	4	364	1	0	0	0	0	1	0	0	0	10563	536	19	1	895	1	NMBR	6	142409507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12483	142409507	28705560	5662	29164											
VTA1	51534	broad.mit.edu	37	chr6	142491540	142491540	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatgtcataacagtattTggagaactcactgatgaagt	15	12	9	5	0	2	4	2	2	0	2	2	5	2	4	0	1	2	1	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:142491540T>C	ENST00000367630.4	+	4	451	c.393T>C	c.(391-393)ttT>ttC	p.F131F	VTA1_ENST00000367621.1_Silent_p.F73F|VTA1_ENST00000452973.2_Silent_p.F73F|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	131	Interaction with IST1.				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		TAACAGTATTTGGAGAACTCA	0.318													C	142491540	T	C	142491540	2	2	364	1	0	0	0	0	0	0	0	1	17335	1809	63	3		3	VTA1	6	142491540	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82033	142491540	28623527	5663	29165											
HIVEP2	3097	broad.mit.edu	37	chr6	143074516	143074516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccagggggttctggtgggGctcctgcacccgcgctggct	2	9	16	14	2	1	0	0	0	1	0	3	0	3	0	3	6	1	5	3	6	0	1	rs78304150	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074516G>A	ENST00000367603.2	-	10	7811	c.7069C>T	c.(7069-7071)Ccc>Tcc	p.P2357S	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.P2357S|HIVEP2_ENST00000367604.1_Missense_Mutation_p.P2357S	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TTCTGGTGGGGCTCCTGCACC	0.567													A	143074516	G	A	143074516	3	1	364	1	0	0	0	0	1	0	0	0	7242	1203	42	2	275	2	HIVEP2	6	143074516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	582976	143074516	28040551	5664	29166											
HIVEP2	3097	broad.mit.edu	37	chr6	143074858	143074858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgtaaactggaaagggCtggcggcatggagtgaacca	13	6	16	6	1	0	1	0	1	0	0	0	4	0	4	1	6	2	3	1	6	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143074858C>T	ENST00000367603.2	-	10	7469	c.6727G>A	c.(6727-6729)Gcc>Acc	p.A2243T	RP1-67K17.3_ENST00000437067.1_RNA|HIVEP2_ENST00000012134.2_Missense_Mutation_p.A2243T|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A2243T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTGGAAAGGGCTGGCGGCATG	0.567													T	143074858	C	T	143074858	3	4	364	1	0	0	0	0	1	0	0	0	7242	797	28	2	617	2	HIVEP2	6	143074858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	342	143074858	28040209	5665	29167											
HIVEP2	3097	broad.mit.edu	37	chr6	143081036	143081036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcttctctctcttctaggaGagaggtctcttcttgctgtg	5	17	9	10	0	6	1	0	0	6	1	9	3	6	2	0	2	1	1	0	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081036G>A	ENST00000367603.2	-	9	7131	c.6389C>T	c.(6388-6390)tCt>tTt	p.S2130F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S2130F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S2130F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2130	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].|Arg-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCTTCTAGGAGAGAGGTCTCT	0.463													A	143081036	G	A	143081036	3	1	364	1	0	0	0	0	1	0	0	0	7242	942	33	2	959	2	HIVEP2	6	143081036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6178	143081036	28034031	5666	29168											
HIVEP2	3097	broad.mit.edu	37	chr6	143081223	143081223	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgggagataaatctcCtttgggtatcagatacctct	9	14	8	10	0	4	2	1	0	3	2	6	3	4	2	3	2	1	1	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143081223C>A	ENST00000367603.2	-	9	6944	c.6202G>T	c.(6202-6204)Gga>Tga	p.G2068*	HIVEP2_ENST00000012134.2_Nonsense_Mutation_p.G2068*|HIVEP2_ENST00000367604.1_Nonsense_Mutation_p.G2068*	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2068	10 X 4 AA tandem repeats of S-P-[RGMKC]- [RK].				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GATAAATCTCCTTTGGGTATC	0.463													A	143081223	C	A	143081223	4	1	364	1	0	0	0	0	0	1	0	0	7242	690	24	4	1146	4	HIVEP2	6	143081223	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	143081223	28033844	5667	29169											
HIVEP2	3097	broad.mit.edu	37	chr6	143091681	143091681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtacttctccaagcccgCatgctgccccagcacctggg	6	7	12	16	1	1	0	0	0	1	0	2	0	1	0	5	3	5	4	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143091681C>T	ENST00000367603.2	-	5	4937	c.4195G>A	c.(4195-4197)Gcg>Acg	p.A1399T	HIVEP2_ENST00000012134.2_Missense_Mutation_p.A1399T|HIVEP2_ENST00000367604.1_Missense_Mutation_p.A1399T	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1399					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		TCCAAGCCCGCATGCTGCCCC	0.527													T	143091681	C	T	143091681	3	4	364	1	0	0	0	0	1	0	0	0	7242	710	25	2	3169	2	HIVEP2	6	143091681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10458	143091681	28023386	5668	29170											
HIVEP2	3097	broad.mit.edu	37	chr6	143094683	143094683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagcgagaaaagtaaccaGaatcagtgcttcctttactg	13	10	9	9	1	1	3	1	1	0	2	2	4	2	3	2	0	4	2	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143094683G>A	ENST00000367603.2	-	5	1935	c.1193C>T	c.(1192-1194)tCt>tTt	p.S398F	HIVEP2_ENST00000012134.2_Missense_Mutation_p.S398F|HIVEP2_ENST00000367604.1_Missense_Mutation_p.S398F	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		AAAGTAACCAGAATCAGTGCT	0.433													A	143094683	G	A	143094683	3	1	364	1	0	0	0	0	1	0	0	0	7242	942	33	2	6171	2	HIVEP2	6	143094683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3002	143094683	28020384	5669	29171											
HIVEP2	3097	broad.mit.edu	37	chr6	143095871	143095871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagctgtgtccccagtgTccattttgttacacaaggtc	8	13	9	11	0	0	1	0	0	0	1	3	1	2	1	3	1	2	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143095871T>C	ENST00000367603.2	-	5	747	c.5A>G	c.(4-6)gAc>gGc	p.D2G	HIVEP2_ENST00000012134.2_Missense_Mutation_p.D2G|HIVEP2_ENST00000367604.1_Missense_Mutation_p.D2G	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GTCCCCAGTGTCCATTTTGTT	0.453													C	143095871	T	C	143095871	3	2	364	1	0	0	0	0	1	0	0	0	7242	1667	58	3	7359	3	HIVEP2	6	143095871	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1188	143095871	28019196	5670	29172											
AIG1	51390	broad.mit.edu	37	chr6	143654485	143654485	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacacattggcccaggAgccagaatcatcttctttgg	10	10	10	11	0	3	1	1	0	2	1	3	3	3	3	2	4	2	0	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143654485A>G	ENST00000357847.4	+	5	632	c.582A>G	c.(580-582)ggA>ggG	p.G194G	AIG1_ENST00000344492.5_Silent_p.G142G|AIG1_ENST00000275235.4_Silent_p.G194G	NM_016108.2	NP_057192.2	Q9NVV5	AIG1_HUMAN	androgen-induced 1	194						integral to membrane				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(155;2.34e-05)|GBM - Glioblastoma multiforme(68;0.0246)		TTGGCCCAGGAGCCAGAATCA	0.468													G	143654485	A	G	143654485	2	3	364	1	0	0	0	0	0	0	0	1	429	291	11	3		3	AIG1	6	143654485	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	558614	143654485	27460582	5671	29173											
PEX3	8504	broad.mit.edu	37	chr6	143810334	143810334	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgctaatgtgtatgaagctTttagtacccctcagcaactg	10	13	8	10	0	1	1	1	1	0	0	1	1	1	1	2	0	5	5	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:143810334T>G	ENST00000367591.4	+	12	1156	c.1093T>G	c.(1093-1095)Ttt>Gtt	p.F365V	RP1-20N2.6_ENST00000591892.1_RNA	NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	365					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		GTATGAAGCTTTTAGTACCCC	0.338													G	143810334	T	G	143810334	3	3	364	1	0	0	0	0	1	0	0	0	11824	1841	64	5	1139	5	PEX3	6	143810334	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155849	143810334	27304733	5672	29174											
PHACTR2	9749	broad.mit.edu	37	chr6	144093464	144093464	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgggctgatgggcgaatcTtcagaatcctttagtgcctc	7	12	11	11	1	2	2	1	1	1	1	4	3	3	2	3	2	1	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144093464T>G	ENST00000427704.2	+	7	1399	c.1269T>G	c.(1267-1269)tcT>tcG	p.S423S	PHACTR2_ENST00000367584.4_Silent_p.S411S|PHACTR2_ENST00000367582.3_Silent_p.S354S|PHACTR2_ENST00000440869.2_Silent_p.S434S|PHACTR2_ENST00000305766.6_Silent_p.S343S	NM_001100166.1|NM_014721.2	NP_001093636.1|NP_055536.2	O75167	PHAR2_HUMAN	phosphatase and actin regulator 2	423							actin binding|protein phosphatase inhibitor activity			NS(3)|breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30				OV - Ovarian serous cystadenocarcinoma(155;1.58e-05)|GBM - Glioblastoma multiforme(68;0.0386)		TGGGCGAATCTTCAGAATCCT	0.512													G	144093464	T	G	144093464	2	3	364	1	0	0	0	0	0	0	0	1	11887	1596	56	5		5	PHACTR2	6	144093464	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	283130	144093464	27021603	5673	29175											
SF3B5	83443	broad.mit.edu	37	chr6	144416569	144416569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacttggtggtgtcggcgtgGcccgtgccgatgtacttgga	4	11	16	10	4	0	0	0	0	0	0	1	2	0	1	2	5	2	1	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144416569G>A	ENST00000367569.2	-	1	185	c.66C>T	c.(64-66)ggC>ggT	p.G22G		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	22					nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		TGTCGGCGTGGCCCGTGCCGA	0.592													A	144416569	G	A	144416569	2	1	364	1	0	0	0	0	0	0	0	1	14247	1190	42	2		2	SF3B5	6	144416569	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	323105	144416569	26698498	5674	29176											
UTRN	7402	broad.mit.edu	37	chr6	144747452	144747452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgaaggatgtcatgtcGgacctgcagcagacgaacag	12	7	13	9	2	2	2	2	1	0	1	3	5	2	4	1	2	3	2	1	2	2	0	rs138951487	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144747452G>A	ENST00000367545.3	+	6	435	c.435G>A	c.(433-435)tcG>tcA	p.S145S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	145	Actin-binding.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATGTCATGTCGGACCTGCAGC	0.473													A	144747452	G	A	144747452	2	1	364	1	0	0	0	0	0	0	0	1	17205	1103	39	1		1	UTRN	6	144747452	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	330883	144747452	26367615	5675	29177											
UTRN	7402	broad.mit.edu	37	chr6	144769783	144769783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtctcagattcctcagaaGgaccttttggagactgttcg	9	13	10	9	1	2	3	2	0	1	3	5	5	3	4	2	2	0	1	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144769783G>T	ENST00000367545.3	+	16	1950	c.1950G>T	c.(1948-1950)aaG>aaT	p.K650N		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	650	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTCCTCAGAAGGACCTTTTGG	0.428													T	144769783	G	T	144769783	3	4	364	1	0	0	0	0	1	0	0	0	17205	991	35	4	2012	4	UTRN	6	144769783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22331	144769783	26345284	5676	29178											
UTRN	7402	broad.mit.edu	37	chr6	144803408	144803408	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcaaggacaacatcaagTtattagctgccaaggtgccc	12	10	8	11	0	2	0	2	0	1	0	3	1	2	1	2	2	4	2	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144803408T>C	ENST00000367545.3	+	26	3571	c.3571T>C	c.(3571-3573)Tta>Cta	p.L1191L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1191					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAACATCAAGTTATTAGCTGC	0.448													C	144803408	T	C	144803408	2	2	364	1	0	0	0	0	0	0	0	1	17205	1722	60	3		3	UTRN	6	144803408	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33625	144803408	26311659	5677	29179											
UTRN	7402	broad.mit.edu	37	chr6	144844245	144844245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagcctctggacctgaaGccattcagatcagagataca	13	9	9	10	0	3	4	2	2	1	2	3	6	3	5	3	1	3	0	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144844245G>T	ENST00000367545.3	+	40	5827	c.5827G>T	c.(5827-5829)Gcc>Tcc	p.A1943S		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1943					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGGACCTGAAGCCATTCAGAT	0.383													T	144844245	G	T	144844245	3	4	364	1	0	0	0	0	1	0	0	0	17205	971	34	4	5985	4	UTRN	6	144844245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40837	144844245	26270822	5678	29180											
UTRN	7402	broad.mit.edu	37	chr6	144878296	144878296	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcacttgcacctcagataCtgcttcaagaactgggtcct	9	11	8	13	0	2	2	2	0	0	2	3	2	3	2	2	1	5	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144878296C>A	ENST00000367545.3	+	49	7138	c.7138C>A	c.(7138-7140)Ctg>Atg	p.L2380M		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2380					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACCTCAGATACTGCTTCAAGA	0.443													A	144878296	C	A	144878296	3	1	364	1	0	0	0	0	1	0	0	0	17205	564	20	4	7332	4	UTRN	6	144878296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34051	144878296	26236771	5679	29181											
UTRN	7402	broad.mit.edu	37	chr6	144898291	144898291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacggtgcaggcctctcGcagagatctggaaaacttcc	10	7	13	11	2	2	1	0	0	2	1	4	5	3	3	2	4	2	2	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:144898291G>A	ENST00000367545.3	+	50	7346	c.7346G>A	c.(7345-7347)cGc>cAc	p.R2449H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2449					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGCCTCTCGCAGAGATCTG	0.498													A	144898291	G	A	144898291	3	1	364	1	0	0	0	0	1	0	0	0	17205	1087	38	1	7544	1	UTRN	6	144898291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19995	144898291	26216776	5680	29182											
UTRN	7402	broad.mit.edu	37	chr6	145142120	145142120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgacttggttacctgcctGtccagacagttcttgaaggt	7	13	10	11	1	1	2	0	1	1	1	3	3	2	2	3	2	2	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:145142120G>A	ENST00000367545.3	+	65	9460	c.9460G>A	c.(9460-9462)Gtc>Atc	p.V3154I	UTRN_ENST00000367526.4_Missense_Mutation_p.V709I	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3154	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTACCTGCCTGTCCAGACAGT	0.373													A	145142120	G	A	145142120	3	1	364	1	0	0	0	0	1	0	0	0	17205	1377	48	2	9718	2	UTRN	6	145142120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243829	145142120	25972947	5681	29183											
FBXO30	84085	broad.mit.edu	37	chr6	146127055	146127055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attagcatgtggtatttctgGgacacttgatttaactgaga	11	15	10	5	0	1	2	0	2	1	1	1	4	1	3	0	2	2	2	0	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127055G>T	ENST00000237281.4	-	2	653	c.487C>A	c.(487-489)Cca>Aca	p.P163T		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	163							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GGTATTTCTGGGACACTTGAT	0.393													T	146127055	G	T	146127055	3	4	364	1	0	0	0	0	1	0	0	0	5789	1232	43	4	1758	4	FBXO30	6	146127055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	984935	146127055	24988012	5682	29184											
FBXO30	84085	broad.mit.edu	37	chr6	146127372	146127372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactatttaagcaaggcactCgttcaaatggacataaaagt	16	10	7	8	1	1	0	1	0	0	0	2	1	1	1	0	2	1	3	0	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146127372C>T	ENST00000237281.4	-	2	336	c.170G>A	c.(169-171)cGa>cAa	p.R57Q		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	57							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		GCAAGGCACTCGTTCAAATGG	0.423													T	146127372	C	T	146127372	3	4	364	1	0	0	0	0	1	0	0	0	5789	884	31	1	2075	1	FBXO30	6	146127372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	317	146127372	24987695	5683	29185											
SHPRH	257218	broad.mit.edu	37	chr6	146266768	146266768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtcagtatcatcacacGtgtagctaaatgtaaaagga	15	10	9	7	1	3	0	3	0	0	0	3	1	3	1	0	1	2	5	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146266768G>A	ENST00000367503.3	-	8	1725	c.1327C>T	c.(1327-1329)Cgt>Tgt	p.R443C	SHPRH_ENST00000367505.2_Missense_Mutation_p.R443C|SHPRH_ENST00000438092.2_Missense_Mutation_p.R443C|SHPRH_ENST00000275233.7_Missense_Mutation_p.R443C	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	443	H15.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		ATCATCACACGTGTAGCTAAA	0.313													A	146266768	G	A	146266768	3	1	364	1	0	0	0	0	1	0	0	0	14385	1145	40	1	3860	1	SHPRH	6	146266768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139396	146266768	24848299	5684	29186											
GRM1	2911	broad.mit.edu	37	chr6	146719914	146719914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcatcacaggctgtgagcCcattcctgtgcgctatcttg	6	13	9	13	1	3	1	2	1	2	0	5	1	4	1	2	1	2	2	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146719914C>T	ENST00000392299.2	+	8	2209	c.1739C>T	c.(1738-1740)cCc>cTc	p.P580L	GRM1_ENST00000507907.1_Missense_Mutation_p.P580L|GRM1_ENST00000492807.2_Missense_Mutation_p.P580L|GRM1_ENST00000355289.4_Missense_Mutation_p.P580L|GRM1_ENST00000282753.1_Missense_Mutation_p.P580L|GRM1_ENST00000361719.2_Missense_Mutation_p.P580L			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	580					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GGCTGTGAGCCCATTCCTGTG	0.428													T	146719914	C	T	146719914	3	4	364	1	0	0	0	0	1	0	0	0	6851	623	22	2	1765	2	GRM1	6	146719914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	453146	146719914	24395153	5685	29187											
GRM1	2911	broad.mit.edu	37	chr6	146755570	146755570	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgccacctccgcagcacCtgcagatgctgccgctgcag	6	5	10	20	3	0	1	0	0	0	1	1	1	1	1	7	0	5	6	7	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:146755570C>A	ENST00000361719.2	+	9	3693	c.3223C>A	c.(3223-3225)Ctg>Atg	p.L1075M	GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR|GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000282753.1_Missense_Mutation_p.L1075M	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1075	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	TCCGCAGCACCTGCAGATGCT	0.692													A	146755570	C	A	146755570	3	1	364	1	0	0	0	0	1	0	0	0	6851	680	24	4	3318	4	GRM1	6	146755570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35656	146755570	24359497	5686	29188											
STXBP5	134957	broad.mit.edu	37	chr6	147703945	147703945	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctcaggaaaggcttcaagGagccttgcacagcatattcc	11	9	9	12	0	2	0	2	0	0	0	4	2	4	2	3	3	3	3	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:147703945G>A	ENST00000367481.3	+	25	3225	c.3117G>A	c.(3115-3117)agG>agA	p.R1039R	STXBP5_ENST00000367480.3_Silent_p.R1022R|STXBP5_ENST00000321680.6_Silent_p.R1075R|STXBP5_ENST00000179882.6_Silent_p.R730R	NM_139244.4	NP_640337.3	Q5T5C0	STXB5_HUMAN	syntaxin binding protein 5 (tomosyn)	1075					exocytosis|positive regulation of exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|nicotinic acetylcholine-gated receptor-channel complex|synaptic vesicle	syntaxin-1 binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	42		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.77e-09)|GBM - Glioblastoma multiforme(68;0.0694)		AGGCTTCAAGGAGCCTTGCAC	0.443													A	147703945	G	A	147703945	2	1	364	1	0	0	0	0	0	0	0	1	15452	1165	41	2		2	STXBP5	6	147703945	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	948375	147703945	23411122	5687	29189											
TAB2	23118	broad.mit.edu	37	chr6	149699899	149699899	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaccagacctctcatgTctacatgccaatcagttcac	11	9	6	15	0	4	1	3	0	2	1	5	1	4	1	4	1	2	1	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149699899T>G	ENST00000367456.1	+	4	1425	c.848T>G	c.(847-849)gTc>gGc	p.V283G	TAB2_ENST00000538427.1_Missense_Mutation_p.V283G|TAB2_ENST00000286332.5_Missense_Mutation_p.V283G|TAB2_ENST00000536230.1_Missense_Mutation_p.V251G|TAB2_ENST00000392282.1_Missense_Mutation_p.V283G			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	283					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						ACCTCTCATGTCTACATGCCA	0.468													G	149699899	T	G	149699899	3	3	364	1	0	0	0	0	1	0	0	0	15593	1667	58	5	854	5	TAB2	6	149699899	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1995954	149699899	21415168	5688	29190											
TAB2	23118	broad.mit.edu	37	chr6	149718775	149718775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggccagaatggaacgaCttcaaagagaacttgagatt	17	7	11	6	1	1	4	1	1	0	4	1	8	1	5	1	2	2	0	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149718775C>T	ENST00000367456.1	+	5	2216	c.1639C>T	c.(1639-1641)Ctt>Ttt	p.L547F	TAB2_ENST00000538427.1_Missense_Mutation_p.L547F|TAB2_ENST00000286332.5_Missense_Mutation_p.L547F|TAB2_ENST00000536230.1_Missense_Mutation_p.L515F			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	547					activation of MAPK activity|heart development|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|T cell receptor signaling pathway|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|endosome membrane|plasma membrane	K63-linked polyubiquitin binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						AATGGAACGACTTCAAAGAGA	0.373													T	149718775	C	T	149718775	3	4	364	1	0	0	0	0	1	0	0	0	15593	565	20	2	1649	2	TAB2	6	149718775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18876	149718775	21396292	5689	29191											
ZC3H12D	340152	broad.mit.edu	37	chr6	149772540	149772540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttggcgcggagctcgtcgGccaccgccagttgcgcgtgg	3	8	16	14	7	1	0	0	0	1	0	3	1	1	1	3	4	2	2	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149772540G>A	ENST00000389942.5	-	6	1110	c.863C>T	c.(862-864)gCc>gTc	p.A288V	ZC3H12D_ENST00000416573.2_Missense_Mutation_p.A288V|ZC3H12D_ENST00000542614.1_Missense_Mutation_p.A288V|ZC3H12D_ENST00000409806.3_Missense_Mutation_p.A288V			A2A288	ZC12D_HUMAN	zinc finger CCCH-type containing 12D	288						cytoplasm|nucleus	endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)	6		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.23e-11)|GBM - Glioblastoma multiforme(68;0.0921)		GAGCTCGTCGGCCACCGCCAG	0.731													A	149772540	G	A	149772540	3	1	364	1	0	0	0	0	1	0	0	0	17665	1203	42	2	724	2	ZC3H12D	6	149772540	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53765	149772540	21342527	5690	29192											
PPIL4	85313	broad.mit.edu	37	chr6	149826712	149826712	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttatgactattactataAtggccatccctctctcgaga	11	14	6	10	1	1	2	0	1	1	1	4	4	2	2	2	1	1	0	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149826712A>T	ENST00000253329.2	-	13	1388	c.1356T>A	c.(1354-1356)caT>caA	p.H452Q	PPIL4_ENST00000340881.2_Missense_Mutation_p.I85N	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	452					protein folding	nucleus	nucleotide binding|peptidyl-prolyl cis-trans isomerase activity|RNA binding			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		TATTACTATAATGGCCATCCC	0.393													T	149826712	A	T	149826712	3	4	364	1	0	0	0	0	1	0	0	0	12411	98	4	5	126	5	PPIL4	6	149826712	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54172	149826712	21288355	5691	29193											
KATNA1	11104	broad.mit.edu	37	chr6	149922851	149922851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgctttagcaaggagcGtcttccccgtgccaggtggg	6	10	13	12	2	1	0	0	0	1	0	2	1	2	1	3	3	5	2	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:149922851G>A	ENST00000367411.2	-	7	1025	c.767C>T	c.(766-768)aCg>aTg	p.T256M	KATNA1_ENST00000335643.8_Missense_Mutation_p.T180M|KATNA1_ENST00000335647.5_Missense_Mutation_p.T256M|KATNA1_ENST00000494504.1_5'UTR	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	256					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGCAAGGAGCGTCTTCCCCGT	0.438													A	149922851	G	A	149922851	3	1	364	1	0	0	0	0	1	0	0	0	8042	1145	40	1	728	1	KATNA1	6	149922851	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96139	149922851	21192216	5692	29194											
LATS1	9113	broad.mit.edu	37	chr6	150005294	150005294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccttgattaggaggatTcatgggggaagtgttgagag	9	12	16	4	0	1	2	1	2	0	1	2	6	2	5	1	4	0	1	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150005294T>C	ENST00000543571.1	-	4	1478	c.931A>G	c.(931-933)Aat>Gat	p.N311D	LATS1_ENST00000392273.3_Missense_Mutation_p.N311D|LATS1_ENST00000253339.5_Missense_Mutation_p.N311D|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	311					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		TTAGGAGGATTCATGGGGGAA	0.483													C	150005294	T	C	150005294	3	2	364	1	0	0	0	0	1	0	0	0	8705	1783	62	3	2481	3	LATS1	6	150005294	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82443	150005294	21109773	5693	29195											
NUP43	348995	broad.mit.edu	37	chr6	150059820	150059820	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatttccttgttgtctgaaAtcccatattttcaactgtcc	8	18	4	11	0	3	1	2	1	1	0	6	1	6	1	3	0	1	1	3	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150059820A>C	ENST00000340413.2	-	5	673	c.597T>G	c.(595-597)gaT>gaG	p.D199E	NUP43_ENST00000367404.4_Intron|NUP43_ENST00000367403.3_Intron|NUP43_ENST00000460354.2_Missense_Mutation_p.D199E	NM_198887.1	NP_942590.1	Q8NFH3	NUP43_HUMAN	nucleoporin 43kDa	199					carbohydrate metabolic process|cell division|chromosome segregation|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	protein binding			breast(1)|large_intestine(2)|lung(8)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;4.71e-13)|GBM - Glioblastoma multiforme(68;0.101)		GTTGTCTGAAATCCCATATTT	0.338													C	150059820	A	C	150059820	3	2	364	1	0	0	0	0	1	0	0	0	10841	98	4	5	561	5	NUP43	6	150059820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54526	150059820	21055247	5694	29196											
ULBP2	80328	broad.mit.edu	37	chr6	150267536	150267536	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctgcaggcaaggatgtcTtgtgagcagaaagctgaagg	12	7	14	8	0	1	3	0	2	1	1	1	4	1	4	1	3	3	4	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150267536T>C	ENST00000367351.3	+	3	451	c.378T>C	c.(376-378)tcT>tcC	p.S126S		NM_025217.2	NP_079493.1	Q9BZM5	N2DL2_HUMAN	UL16 binding protein 2	126	MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation|regulation of immune response	anchored to membrane|cell surface|extracellular space|MHC class I protein complex	MHC class I receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	10		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.58e-12)		CAAGGATGTCTTGTGAGCAGA	0.498													C	150267536	T	C	150267536	2	2	364	1	0	0	0	0	0	0	0	1	17075	1596	56	3		3	ULBP2	6	150267536	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	207716	150267536	20847531	5695	29197											
RAET1L	154064	broad.mit.edu	37	chr6	150342236	150342236	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaagagtaggaaggtctGtccatcgatactgaactgcc	12	9	11	9	1	2	2	1	1	1	1	4	4	3	3	2	2	3	1	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150342236G>A	ENST00000367341.1	-	3	435	c.436C>T	c.(436-438)Cag>Tag	p.Q146*	RAET1L_ENST00000286380.2_Nonsense_Mutation_p.Q146*			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	146	MHC class I alpha-2 like (By similarity).				antigen processing and presentation|immune response	anchored to membrane|MHC class I protein complex				endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		AGGAAGGTCTGTCCATCGATA	0.502													A	150342236	G	A	150342236	4	1	364	1	0	0	0	0	0	1	0	0	13089	1386	48	2	311	2	RAET1L	6	150342236	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74700	150342236	20772831	5696	29198											
ULBP3	79465	broad.mit.edu	37	chr6	150386666	150386666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctctttcatccgcctggCtccagcgtgaaccactgtcc	5	12	7	17	2	2	1	1	1	1	0	6	1	5	1	5	1	2	1	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150386666C>A	ENST00000367339.2	-	3	524	c.496G>T	c.(496-498)Gcc>Tcc	p.A166S	ULBP3_ENST00000438272.2_Missense_Mutation_p.A166S			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-2 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ATCCGCCTGGCTCCAGCGTGA	0.512													A	150386666	C	A	150386666	3	1	364	1	0	0	0	0	1	0	0	0	17076	797	28	4	245	4	ULBP3	6	150386666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44430	150386666	20728401	5697	29199											
ULBP3	79465	broad.mit.edu	37	chr6	150387291	150387291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagttataccagagagaGtgagcgtctaaggaaaaaaa	18	7	12	4	1	1	4	0	2	1	2	1	6	1	5	1	1	2	1	1	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150387291G>A	ENST00000367339.2	-	2	124	c.96C>T	c.(94-96)caC>caT	p.H32H	ULBP3_ENST00000438272.2_Silent_p.H32H			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		ACCAGAGAGAGTGAGCGTCTA	0.488													A	150387291	G	A	150387291	2	1	364	1	0	0	0	0	0	0	0	1	17076	1020	36	2		2	ULBP3	6	150387291	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625	150387291	20727776	5698	29200											
ULBP3	79465	broad.mit.edu	37	chr6	150390163	150390163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaggtacggaagaatcgCgaggcgcggaaggatcgcgg	11	4	18	8	7	0	1	0	0	0	1	2	5	0	4	0	6	2	2	0	6	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:150390163C>T	ENST00000367339.2	-	1	68	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ULBP3_ENST00000438272.2_Missense_Mutation_p.A14T			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3						antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		GGAAGAATCGCGAGGCGCGGA	0.677													T	150390163	C	T	150390163	3	4	364	1	0	0	0	0	1	0	0	0	17076	768	27	1	709	1	ULBP3	6	150390163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2872	150390163	20724904	5699	29201											
PLEKHG1	57480	broad.mit.edu	37	chr6	151125863	151125863	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcggaaacacgagcacGcggtccggttacaggtgagc	11	5	15	10	5	0	2	0	2	0	0	1	4	1	3	1	4	5	2	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151125863G>A	ENST00000367328.1	+	8	1210	c.898G>A	c.(898-900)Gcg>Acg	p.A300T	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.A300T	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	300					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		ACACGAGCACGCGGTCCGGTT	0.512													A	151125863	G	A	151125863	3	1	364	1	0	0	0	0	1	0	0	0	12145	1087	38	1	920	1	PLEKHG1	6	151125863	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	735700	151125863	19989204	5700	29202											
MTHFD1L	25902	broad.mit.edu	37	chr6	151203944	151203944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagataccagagtacatgGccttgcccttcagatctctg	10	11	9	11	0	2	4	1	1	1	3	3	4	2	4	3	1	3	1	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151203944G>A	ENST00000367321.3	+	5	738	c.464G>A	c.(463-465)gGc>gAc	p.G155D	MTHFD1L_ENST00000367307.4_Missense_Mutation_p.G155D	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	155	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		AGAGTACATGGCCTTGCCCTT	0.318													A	151203944	G	A	151203944	3	1	364	1	0	0	0	0	1	0	0	0	10004	1203	42	2	482	2	MTHFD1L	6	151203944	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78081	151203944	19911123	5701	29203											
AKAP12	9590	broad.mit.edu	37	chr6	151672950	151672950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtaaccacttgtcaagccGaaaccttagctggggtaaaa	13	10	9	9	1	1	0	1	0	0	0	1	1	1	0	3	2	4	3	3	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151672950G>A	ENST00000402676.2	+	4	3664	c.3424G>A	c.(3424-3426)Gaa>Aaa	p.E1142K	AKAP12_ENST00000354675.6_Missense_Mutation_p.E1044K|AKAP12_ENST00000359755.5_Missense_Mutation_p.E1037K|AKAP12_ENST00000253332.1_Missense_Mutation_p.E1142K	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1142					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TTGTCAAGCCGAAACCTTAGC	0.522													A	151672950	G	A	151672950	3	1	364	1	0	0	0	0	1	0	0	0	448	1059	37	1	3463	1	AKAP12	6	151672950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469006	151672950	19442117	5702	29204											
AKAP12	9590	broad.mit.edu	37	chr6	151674767	151674767	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggaagtagaattgcaGgaaggaaaagtgcacagtga	16	5	14	6	0	0	2	0	1	0	1	0	5	0	5	1	3	2	3	1	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151674767G>A	ENST00000402676.2	+	4	5481	c.5241G>A	c.(5239-5241)caG>caA	p.Q1747Q	AKAP12_ENST00000354675.6_Silent_p.Q1649Q|AKAP12_ENST00000359755.5_Silent_p.Q1642Q|AKAP12_ENST00000253332.1_Silent_p.Q1747Q	NM_005100.3	NP_005091.2	Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1747					G-protein coupled receptor protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting	cell cortex|cytoskeleton|plasma membrane	adenylate cyclase binding|protein kinase A binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		TAGAATTGCAGGAAGGAAAAG	0.453													A	151674767	G	A	151674767	2	1	364	1	0	0	0	0	0	0	0	1	448	991	35	2		2	AKAP12	6	151674767	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1817	151674767	19440300	5703	29205											
ZBTB2	57621	broad.mit.edu	37	chr6	151694680	151694680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccttgaagtatacatcGccgattgcaaccgtgcagtc	9	11	10	11	3	0	1	0	1	0	0	2	2	0	1	3	0	5	3	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151694680G>A	ENST00000325144.4	-	2	233	c.93C>T	c.(91-93)ggC>ggT	p.G31G		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	31	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		AGTATACATCGCCGATTGCAA	0.408													A	151694680	G	A	151694680	2	1	364	1	0	0	0	0	0	0	0	1	17629	1074	38	1		1	ZBTB2	6	151694680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19913	151694680	19420387	5704	29206											
RMND1	55005	broad.mit.edu	37	chr6	151766610	151766610	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaccatttagaacccaacaGatttggtttgtgggtcactc	12	12	8	9	0	1	2	1	0	0	2	2	2	1	2	2	2	3	1	2	2	4	4	rs150212790		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151766610G>A	ENST00000367303.4	-	2	459	c.337C>T	c.(337-339)Ctg>Ttg	p.L113L	RMND1_ENST00000491268.1_5'UTR	NM_017909.2	NP_060379.2	Q9NWS8	RMND1_HUMAN	required for meiotic nuclear division 1 homolog (S. cerevisiae)	113										central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.146)	OV - Ovarian serous cystadenocarcinoma(155;6.8e-11)		GAACCCAACAGATTTGGTTTG	0.408													A	151766610	G	A	151766610	2	1	364	1	0	0	0	0	0	0	0	1	13487	933	33	2		2	RMND1	6	151766610	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71930	151766610	19348457	5705	29207											
C6orf211	79624	broad.mit.edu	37	chr6	151779496	151779496	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaaagaaagctatctctCtcctttctaaattacggaat	14	13	5	9	1	3	2	0	1	3	1	5	3	3	3	1	1	2	1	1	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151779496C>A	ENST00000367294.3	+	3	440	c.181C>A	c.(181-183)Ctc>Atc	p.L61I	C6orf211_ENST00000545879.1_5'UTR|C6orf211_ENST00000483931.1_3'UTR	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	61							protein binding	p.L61I(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AGCTATCTCTCTCCTTTCTAA	0.358													A	151779496	C	A	151779496	3	1	364	1	0	0	0	0	1	0	0	0	2376	913	32	4	191	4	C6orf211	6	151779496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12886	151779496	19335571	5706	29208											
C6orf211	79624	broad.mit.edu	37	chr6	151785753	151785753	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttttttaaacttctgcaGgtaaatgtgatcattaatct	12	17	7	5	0	3	1	1	1	2	0	3	2	3	1	0	1	2	3	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:151785753G>T	ENST00000367294.3	+	4	817	c.558G>T	c.(556-558)caG>caT	p.Q186H	C6orf211_ENST00000545879.1_Splice_Site_p.Q67H	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	186							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		AACTTCTGCAGGTAAATGTGA	0.279													T	151785753	G	T	151785753	5	4	364	1	0	0	0	0	0	0	1	0	2376	1014	35	4	572	4	C6orf211	6	151785753	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6257	151785753	19329314	5707	29209											
ESR1	2099	broad.mit.edu	37	chr6	152332875	152332875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgattggtctcgtctggcGctccatggagcacccaggga	7	9	14	11	2	2	1	0	1	2	0	4	4	3	3	2	4	1	2	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152332875G>A	ENST00000440973.1	+	7	1551	c.1181G>A	c.(1180-1182)cGc>cAc	p.R394H	ESR1_ENST00000427531.2_Missense_Mutation_p.R221H|ESR1_ENST00000206249.3_Missense_Mutation_p.R394H|ESR1_ENST00000406599.1_Intron|ESR1_ENST00000338799.5_Missense_Mutation_p.R394H|ESR1_ENST00000443427.1_Missense_Mutation_p.R394H|ESR1_ENST00000456483.2_Missense_Mutation_p.R282H	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	394	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	CTCGTCTGGCGCTCCATGGAG	0.498													A	152332875	G	A	152332875	3	1	364	1	0	0	0	0	1	0	0	0	5297	1087	38	1	1199	1	ESR1	6	152332875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	547122	152332875	18782192	5708	29210											
SYNE1	23345	broad.mit.edu	37	chr6	152462343	152462343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctacgcactcaccagccGtttgggtttcggtactatgc	7	12	10	12	3	1	0	1	0	0	0	2	0	1	0	2	2	5	5	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152462343G>A	ENST00000367255.5	-	139	25842	c.25241C>T	c.(25240-25242)aCg>aTg	p.T8414M	SYNE1_ENST00000448038.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000356820.4_Missense_Mutation_p.T2938M|SYNE1_ENST00000423061.1_Missense_Mutation_p.T8366M|SYNE1_ENST00000539504.1_Missense_Mutation_p.T569M|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.T8026M|SYNE1_ENST00000354674.4_Missense_Mutation_p.T592M|SYNE1_ENST00000265368.4_Missense_Mutation_p.T8414M	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8414					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	p.T8414M(2)		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)		CTCACCAGCCGTTTGGGTTTC	0.478										HNSCC(10;0.0054)			A	152462343	G	A	152462343	3	1	364	1	0	0	0	0	1	0	0	0	15542	1145	40	1	1184	1	SYNE1	6	152462343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129468	152462343	18652724	5709	29211											
SYNE1	23345	broad.mit.edu	37	chr6	152470620	152470620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgttacatacaggcaggcGgatcagtttcttatggtatc	11	13	10	7	1	2	0	1	0	1	0	3	1	2	1	0	4	2	4	0	4	5	5	rs139885317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152470620G>A	ENST00000367255.5	-	136	25235	c.24634C>T	c.(24634-24636)Cgc>Tgc	p.R8212C	SYNE1_ENST00000448038.1_Missense_Mutation_p.R8141C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R2736C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R8141C|SYNE1_ENST00000539504.1_Missense_Mutation_p.R367C|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.R7824C|SYNE1_ENST00000354674.4_Missense_Mutation_p.R367C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R8212C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8212					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)		ACAGGCAGGCGGATCAGTTTC	0.468										HNSCC(10;0.0054)			A	152470620	G	A	152470620	3	1	364	1	0	0	0	0	1	0	0	0	15542	1116	39	1	1876	1	SYNE1	6	152470620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8277	152470620	18644447	5710	29212											
SYNE1	23345	broad.mit.edu	37	chr6	152476032	152476032	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaattatagattacctcaaAtttctttagttcttccttgg	10	18	6	7	0	3	1	1	0	2	1	4	2	4	2	2	2	1	1	2	2	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152476032A>T	ENST00000367255.5	-	133	24725	c.24124T>A	c.(24124-24126)Ttt>Att	p.F8042I	SYNE1_ENST00000448038.1_Missense_Mutation_p.F7971I|SYNE1_ENST00000356820.4_Missense_Mutation_p.F2566I|SYNE1_ENST00000423061.1_Missense_Mutation_p.F7971I|SYNE1_ENST00000539504.1_Missense_Mutation_p.F197I|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000341594.5_Missense_Mutation_p.F7654I|SYNE1_ENST00000354674.4_Missense_Mutation_p.F197I|SYNE1_ENST00000265368.4_Missense_Mutation_p.F8042I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	8042					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)		ATTACCTCAAATTTCTTTAGT	0.388										HNSCC(10;0.0054)			T	152476032	A	T	152476032	3	4	364	1	0	0	0	0	1	0	0	0	15542	101	4	5	2398	5	SYNE1	6	152476032	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5412	152476032	18639035	5711	29213											
SYNE1	23345	broad.mit.edu	37	chr6	152553312	152553312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatttttaatattatctTcatccttctgaataacattt	12	20	3	6	0	3	1	1	1	2	0	4	2	4	2	1	1	1	0	1	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152553312T>C	ENST00000367255.5	-	113	21402	c.20801A>G	c.(20800-20802)gAa>gGa	p.E6934G	SYNE1_ENST00000448038.1_Missense_Mutation_p.E6863G|SYNE1_ENST00000356820.4_Missense_Mutation_p.E1458G|SYNE1_ENST00000423061.1_Missense_Mutation_p.E6863G|SYNE1_ENST00000341594.5_Missense_Mutation_p.E6546G|SYNE1_ENST00000265368.4_Missense_Mutation_p.E6934G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6934					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)		AATATTATCTTCATCCTTCTG	0.318										HNSCC(10;0.0054)			C	152553312	T	C	152553312	3	2	364	1	0	0	0	0	1	0	0	0	15542	1783	62	3	5801	3	SYNE1	6	152553312	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77280	152553312	18561755	5712	29214											
SYNE1	23345	broad.mit.edu	37	chr6	152557334	152557334	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactctccaagttgatttagTtggctttctagatctgagca	9	15	8	9	0	3	3	0	2	3	1	4	3	3	3	1	1	1	4	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152557334T>C	ENST00000367255.5	-	110	20905	c.20304A>G	c.(20302-20304)caA>caG	p.Q6768Q	SYNE1_ENST00000448038.1_Silent_p.Q6697Q|SYNE1_ENST00000356820.4_Silent_p.Q1292Q|SYNE1_ENST00000423061.1_Silent_p.Q6697Q|SYNE1_ENST00000341594.5_Silent_p.Q6380Q|SYNE1_ENST00000265368.4_Silent_p.Q6768Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6768					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)		GTTGATTTAGTTGGCTTTCTA	0.373										HNSCC(10;0.0054)			C	152557334	T	C	152557334	2	2	364	1	0	0	0	0	0	0	0	1	15542	1722	60	3		3	SYNE1	6	152557334	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4022	152557334	18557733	5713	29215											
SYNE1	23345	broad.mit.edu	37	chr6	152560749	152560749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagccatcagctctgtatgGaactgggtttccttttggac	7	14	11	9	0	2	1	1	1	1	0	3	3	3	3	2	3	3	3	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152560749G>T	ENST00000367255.5	-	108	20587	c.19986C>A	c.(19984-19986)ttC>ttA	p.F6662L	SYNE1_ENST00000448038.1_Missense_Mutation_p.F6591L|SYNE1_ENST00000356820.4_Missense_Mutation_p.F1186L|SYNE1_ENST00000423061.1_Missense_Mutation_p.F6591L|SYNE1_ENST00000341594.5_Missense_Mutation_p.F6274L|SYNE1_ENST00000265368.4_Missense_Mutation_p.F6662L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6662					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)		GCTCTGTATGGAACTGGGTTT	0.458										HNSCC(10;0.0054)			T	152560749	G	T	152560749	3	4	364	1	0	0	0	0	1	0	0	0	15542	1165	41	4	6636	4	SYNE1	6	152560749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3415	152560749	18554318	5714	29216											
SYNE1	23345	broad.mit.edu	37	chr6	152589210	152589210	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcatcaccagaggtctCtgccgccgaatgttgaatta	10	9	9	13	2	2	2	1	1	1	1	3	3	2	2	4	1	2	2	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152589210C>A	ENST00000367255.5	-	100	19397	c.18796G>T	c.(18796-18798)Gag>Tag	p.E6266*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E6195*|SYNE1_ENST00000356820.4_Nonsense_Mutation_p.E790*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E6195*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E5878*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E6266*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6266					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)		CCAGAGGTCTCTGCCGCCGAA	0.438										HNSCC(10;0.0054)			A	152589210	C	A	152589210	4	1	364	1	0	0	0	0	0	1	0	0	15542	922	32	4	7858	4	SYNE1	6	152589210	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28461	152589210	18525857	5715	29217											
SYNE1	23345	broad.mit.edu	37	chr6	152646334	152646334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggtcattgacctgctcAgggtggctttgctggcatca	5	12	14	10	1	3	1	3	1	0	0	3	1	3	1	1	5	2	4	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152646334A>G	ENST00000367255.5	-	81	16143	c.15542T>C	c.(15541-15543)cTg>cCg	p.L5181P	SYNE1_ENST00000448038.1_Missense_Mutation_p.L5110P|SYNE1_ENST00000423061.1_Missense_Mutation_p.L5110P|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4874P|SYNE1_ENST00000265368.4_Missense_Mutation_p.L5181P	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5181					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)		TGACCTGCTCAGGGTGGCTTT	0.527										HNSCC(10;0.0054)			G	152646334	A	G	152646334	3	3	364	1	0	0	0	0	1	0	0	0	15542	188	7	3	11188	3	SYNE1	6	152646334	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	57124	152646334	18468733	5716	29218											
SYNE1	23345	broad.mit.edu	37	chr6	152647664	152647664	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccacgtctaggccattGcctgccagctgtaacaattc	8	11	7	15	1	2	0	0	0	2	0	4	0	2	0	4	1	4	2	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152647664G>A	ENST00000367255.5	-	79	15661	c.15060C>T	c.(15058-15060)ggC>ggT	p.G5020G	SYNE1_ENST00000448038.1_Silent_p.G4949G|SYNE1_ENST00000423061.1_Silent_p.G4949G|SYNE1_ENST00000341594.5_Silent_p.G4767G|SYNE1_ENST00000265368.4_Silent_p.G5020G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5020					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)		CTAGGCCATTGCCTGCCAGCT	0.458										HNSCC(10;0.0054)			A	152647664	G	A	152647664	2	1	364	1	0	0	0	0	0	0	0	1	15542	1306	46	2		2	SYNE1	6	152647664	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1330	152647664	18467403	5717	29219											
SYNE1	23345	broad.mit.edu	37	chr6	152674457	152674457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactttgtcaatcttggtagCcacattcttgaagtttttat	9	19	6	7	0	3	1	1	1	2	0	3	1	3	1	1	1	2	2	1	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152674457C>T	ENST00000367255.5	-	69	11795	c.11194G>A	c.(11194-11196)Gct>Act	p.A3732T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A3717T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A3717T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A3703T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A3732T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3732					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)		ATCTTGGTAGCCACATTCTTG	0.413										HNSCC(10;0.0054)			T	152674457	C	T	152674457	3	4	364	1	0	0	0	0	1	0	0	0	15542	739	26	2	15584	2	SYNE1	6	152674457	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26793	152674457	18440610	5718	29220											
SYNE1	23345	broad.mit.edu	37	chr6	152702469	152702469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactctgctgagacggcttGcaccaatctctctggaatct	8	11	8	14	1	4	1	0	1	4	1	5	3	4	2	2	2	2	3	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152702469G>A	ENST00000367255.5	-	56	9282	c.8681C>T	c.(8680-8682)gCa>gTa	p.A2894V	SYNE1-AS1_ENST00000412161.1_RNA|SYNE1_ENST00000448038.1_Missense_Mutation_p.A2901V|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2901V|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2933V|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2894V	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2894					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)		GAGACGGCTTGCACCAATCTC	0.517										HNSCC(10;0.0054)			A	152702469	G	A	152702469	3	1	364	1	0	0	0	0	1	0	0	0	15542	1319	46	2	18149	2	SYNE1	6	152702469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28012	152702469	18412598	5719	29221											
SYNE1	23345	broad.mit.edu	37	chr6	152712526	152712526	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgctttgcagtgcttcCtccagggcttcgtgctcctg	4	13	10	14	1	0	0	0	0	0	0	4	0	3	0	3	1	4	5	3	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152712526C>A	ENST00000367255.5	-	52	8491	c.7890G>T	c.(7888-7890)gaG>gaT	p.E2630D	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2637D|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2637D|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2669D|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2630D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2630					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)		GCAGTGCTTCCTCCAGGGCTT	0.562										HNSCC(10;0.0054)			A	152712526	C	A	152712526	3	1	364	1	0	0	0	0	1	0	0	0	15542	680	24	4	18956	4	SYNE1	6	152712526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10057	152712526	18402541	5720	29222											
SYNE1	23345	broad.mit.edu	37	chr6	152718083	152718083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtcactgcatcaagtttGctctgcccatcactgactga	9	12	8	12	0	4	3	3	3	1	0	4	3	4	3	1	0	3	3	1	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152718083G>A	ENST00000367255.5	-	50	7984	c.7383C>T	c.(7381-7383)agC>agT	p.S2461S	SYNE1_ENST00000448038.1_Silent_p.S2468S|SYNE1_ENST00000423061.1_Silent_p.S2468S|SYNE1_ENST00000341594.5_Silent_p.S2500S|SYNE1_ENST00000265368.4_Silent_p.S2461S	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2461					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)		CATCAAGTTTGCTCTGCCCAT	0.383										HNSCC(10;0.0054)			A	152718083	G	A	152718083	2	1	364	1	0	0	0	0	0	0	0	1	15542	1310	46	2		2	SYNE1	6	152718083	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5557	152718083	18396984	5721	29223											
SYNE1	23345	broad.mit.edu	37	chr6	152722419	152722419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttcagggttccttttgCtacttcagttatttctttgg	5	20	7	9	0	3	0	2	0	1	0	5	0	5	0	2	2	2	3	2	2	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152722419C>T	ENST00000367255.5	-	47	7484	c.6883G>A	c.(6883-6885)Gca>Aca	p.A2295T	SYNE1_ENST00000448038.1_Missense_Mutation_p.A2302T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A2302T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A2332T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A2295T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2295					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)		GTTCCTTTTGCTACTTCAGTT	0.363										HNSCC(10;0.0054)			T	152722419	C	T	152722419	3	4	364	1	0	0	0	0	1	0	0	0	15542	797	28	2	19983	2	SYNE1	6	152722419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4336	152722419	18392648	5722	29224											
SYNE1	23345	broad.mit.edu	37	chr6	152728208	152728208	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggttgctgatgttttCtgccatctgtggaacgcagt	7	14	11	9	1	2	1	0	1	2	0	3	2	3	2	2	2	3	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152728208C>A	ENST00000367255.5	-	45	7265	c.6664G>T	c.(6664-6666)Gaa>Taa	p.E2222*	SYNE1_ENST00000448038.1_Nonsense_Mutation_p.E2229*|SYNE1_ENST00000423061.1_Nonsense_Mutation_p.E2229*|SYNE1_ENST00000341594.5_Nonsense_Mutation_p.E2259*|SYNE1_ENST00000265368.4_Nonsense_Mutation_p.E2222*	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2222					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)		CTGATGTTTTCTGCCATCTGT	0.443										HNSCC(10;0.0054)			A	152728208	C	A	152728208	4	1	364	1	0	0	0	0	0	1	0	0	15542	922	32	4	20210	4	SYNE1	6	152728208	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5789	152728208	18386859	5723	29225											
SYNE1	23345	broad.mit.edu	37	chr6	152730694	152730694	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacacattttgaattttacCttggaaaaagcccatttaag	16	13	5	7	0	0	1	0	1	0	0	0	2	0	2	2	1	3	0	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152730694C>A	ENST00000367255.5	-	43	6982	c.6381G>T	c.(6379-6381)aaG>aaT	p.K2127N	SYNE1_ENST00000448038.1_Splice_Site_p.K2134N|SYNE1_ENST00000423061.1_Splice_Site_p.K2134N|SYNE1_ENST00000341594.5_Splice_Site_p.K2164N|SYNE1_ENST00000265368.4_Splice_Site_p.K2127N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2127					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)		TGAATTTTACCTTGGAAAAAG	0.333										HNSCC(10;0.0054)			A	152730694	C	A	152730694	5	1	364	1	0	0	0	0	0	0	1	0	15542	695	24	4	20501	4	SYNE1	6	152730694	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2486	152730694	18384373	5724	29226											
SYNE1	23345	broad.mit.edu	37	chr6	152737985	152737985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggacagggcaagctgccGcctctccacaacctggctgg	8	6	13	14	1	1	0	0	0	1	0	2	1	1	1	4	4	3	3	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152737985G>A	ENST00000367255.5	-	41	6188	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W	SYNE1_ENST00000448038.1_Missense_Mutation_p.R1870W|SYNE1_ENST00000423061.1_Missense_Mutation_p.R1870W|SYNE1_ENST00000341594.5_Missense_Mutation_p.R1900W|SYNE1_ENST00000265368.4_Missense_Mutation_p.R1863W	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1863					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)		GCAAGCTGCCGCCTCTCCACA	0.602										HNSCC(10;0.0054)			A	152737985	G	A	152737985	3	1	364	1	0	0	0	0	1	0	0	0	15542	1086	38	1	21303	1	SYNE1	6	152737985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7291	152737985	18377082	5725	29227											
SYNE1	23345	broad.mit.edu	37	chr6	152771814	152771814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagcttcctgtaggtgCtgtcaatggcagctctgagc	7	11	12	11	0	2	2	1	2	1	0	3	2	3	2	2	2	4	5	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771814C>T	ENST00000367255.5	-	27	3942	c.3341G>A	c.(3340-3342)aGc>aAc	p.S1114N	SYNE1_ENST00000448038.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000367253.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000423061.1_Missense_Mutation_p.S1121N|SYNE1_ENST00000341594.5_Missense_Mutation_p.S1180N|SYNE1_ENST00000265368.4_Missense_Mutation_p.S1114N|SYNE1_ENST00000413186.2_Missense_Mutation_p.S1114N|SYNE1_ENST00000367248.3_Missense_Mutation_p.S1104N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1114					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)		CCTGTAGGTGCTGTCAATGGC	0.522										HNSCC(10;0.0054)			T	152771814	C	T	152771814	3	4	364	1	0	0	0	0	1	0	0	0	15542	797	28	2	23605	2	SYNE1	6	152771814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33829	152771814	18343253	5726	29228											
SYNE1	23345	broad.mit.edu	37	chr6	152771912	152771912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttcacacagagttcctcGatgagctgtaaccttttctc	9	14	7	11	1	2	2	1	1	1	1	5	3	3	2	2	0	2	4	2	0	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152771912G>A	ENST00000367255.5	-	27	3844	c.3243C>T	c.(3241-3243)atC>atT	p.I1081I	SYNE1_ENST00000448038.1_Silent_p.I1088I|SYNE1_ENST00000367253.4_Silent_p.I1081I|SYNE1_ENST00000423061.1_Silent_p.I1088I|SYNE1_ENST00000341594.5_Silent_p.I1147I|SYNE1_ENST00000265368.4_Silent_p.I1081I|SYNE1_ENST00000413186.2_Silent_p.I1081I|SYNE1_ENST00000367248.3_Silent_p.I1071I	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1081					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)		AGAGTTCCTCGATGAGCTGTA	0.463										HNSCC(10;0.0054)			A	152771912	G	A	152771912	2	1	364	1	0	0	0	0	0	0	0	1	15542	1048	37	1		1	SYNE1	6	152771912	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98	152771912	18343155	5727	29229											
SYNE1	23345	broad.mit.edu	37	chr6	152782732	152782732	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaaattattttcgcacCttggttagctgctctttgag	8	17	8	8	1	1	1	0	1	1	0	2	1	1	1	1	1	2	5	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152782732C>A	ENST00000367255.5	-	21	2995	c.2394G>T	c.(2392-2394)aaG>aaT	p.K798N	SYNE1_ENST00000495090.2_Splice_Site_p.K365N|SYNE1_ENST00000448038.1_Splice_Site_p.K805N|SYNE1_ENST00000367253.4_Splice_Site_p.K798N|SYNE1_ENST00000423061.1_Splice_Site_p.K805N|SYNE1_ENST00000341594.5_Splice_Site_p.K805N|SYNE1_ENST00000265368.4_Splice_Site_p.K798N|SYNE1_ENST00000413186.2_Splice_Site_p.K798N|SYNE1_ENST00000367248.3_Splice_Site_p.K788N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	798					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)		ATTTTCGCACCTTGGTTAGCT	0.433										HNSCC(10;0.0054)			A	152782732	C	A	152782732	5	1	364	1	0	0	0	0	0	0	1	0	15542	695	24	4	24576	4	SYNE1	6	152782732	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10820	152782732	18332335	5728	29230											
SYNE1	23345	broad.mit.edu	37	chr6	152792774	152792774	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccactgactctctcctcccGtacttaatgatccaagactt	9	13	4	15	1	1	3	0	2	1	1	6	3	5	3	4	0	1	1	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:152792774G>A	ENST00000367255.5	-	16	2191	c.1590C>T	c.(1588-1590)taC>taT	p.Y530Y	SYNE1_ENST00000495090.2_Silent_p.Y97Y|SYNE1_ENST00000448038.1_Silent_p.Y537Y|SYNE1_ENST00000466159.2_Silent_p.Y530Y|SYNE1_ENST00000367253.4_Silent_p.Y530Y|SYNE1_ENST00000423061.1_Silent_p.Y537Y|SYNE1_ENST00000341594.5_Silent_p.Y537Y|SYNE1_ENST00000265368.4_Silent_p.Y530Y|SYNE1_ENST00000413186.2_Silent_p.Y530Y|SYNE1_ENST00000367248.3_Silent_p.Y520Y	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	530					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)		CTCTCCTCCCGTACTTAATGA	0.443										HNSCC(10;0.0054)			A	152792774	G	A	152792774	2	1	364	1	0	0	0	0	0	0	0	1	15542	1140	40	1		1	SYNE1	6	152792774	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10042	152792774	18322293	5729	29231											
FBXO5	26271	broad.mit.edu	37	chr6	153292398	153292398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgaacagtctttagtaGtatgataattacagagacac	15	12	7	7	0	2	3	0	2	2	1	2	4	2	3	0	0	2	2	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:153292398G>T	ENST00000367241.3	-	5	1486	c.1106C>A	c.(1105-1107)aCt>aAt	p.T369N	FBXO5_ENST00000477822.1_5'UTR|FBXO5_ENST00000229758.3_Missense_Mutation_p.T415N	NM_001142522.1	NP_001135994.1	Q9UKT4	FBX5_HUMAN	F-box protein 5	415					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol|nucleoplasm|spindle	metal ion binding|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)	15		Ovarian(120;0.125)		OV - Ovarian serous cystadenocarcinoma(155;4.38e-10)|BRCA - Breast invasive adenocarcinoma(81;0.0893)		GTCTTTAGTAGTATGATAATT	0.388													T	153292398	G	T	153292398	3	4	364	1	0	0	0	0	1	0	0	0	5807	1029	36	4	103	4	FBXO5	6	153292398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	499624	153292398	17822669	5730	29232											
OPRM1	4988	broad.mit.edu	37	chr6	154439843	154439843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatctggaagcagaaactgCtccgttgccctaacagggtc	12	8	10	11	1	1	1	0	0	1	1	3	2	2	2	2	2	5	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154439843C>A	ENST00000522236.1	+	4	2198	c.890C>A	c.(889-891)gCt>gAt	p.A297D	OPRM1_ENST00000330432.7_Missense_Mutation_p.A397D|OPRM1_ENST00000337049.4_Intron|OPRM1_ENST00000434900.2_Missense_Mutation_p.A490D|OPRM1_ENST00000518759.1_Missense_Mutation_p.A316D|OPRM1_ENST00000520708.1_Missense_Mutation_p.A297D|OPRM1_ENST00000522555.1_Missense_Mutation_p.A297D	NM_001145287.1	NP_001138759.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	397					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	GCAGAAACTGCTCCGTTGCCC	0.463													A	154439843	C	A	154439843	3	1	364	1	0	0	0	0	1	0	0	0	10963	797	28	4	1994	4	OPRM1	6	154439843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1147445	154439843	16675224	5731	29233											
IPCEF1	26034	broad.mit.edu	37	chr6	154489055	154489055	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatttgaaattttgttacCtttaatgtgctattcaatgt	12	19	5	5	0	1	1	1	1	0	0	1	1	1	1	1	0	2	2	1	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:154489055C>A	ENST00000265198.4	-	11	1256	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	OPRM1_ENST00000337049.4_Intron|IPCEF1_ENST00000367220.4_Splice_Site_p.K368N|IPCEF1_ENST00000519344.1_Splice_Site_p.K339N|IPCEF1_ENST00000422970.2_Splice_Site_p.K368N	NM_001130700.1|NM_015553.2	NP_001124172.1|NP_056368.1			interaction protein for cytohesin exchange factors 1											breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	12						ATTTTGTTACCTTTAATGTGC	0.388													A	154489055	C	A	154489055	5	1	364	1	0	0	0	0	0	0	1	0	7849	695	24	4	220	4	IPCEF1	6	154489055	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49212	154489055	16626012	5732	29234											
TIAM2	26230	broad.mit.edu	37	chr6	155154476	155154476	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagaagagtgacacagttGctgatatagaaagtgaacca	17	7	12	5	0	0	6	0	3	0	3	0	7	0	6	1	1	2	2	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155154476G>A	ENST00000461783.3	+	0	646				SCAF8_ENST00000367178.3_Missense_Mutation_p.A1255T|SCAF8_ENST00000367186.4_Missense_Mutation_p.A1321T|SCAF8_ENST00000417268.1_Missense_Mutation_p.A1255T			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2						apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGACACAGTTGCTGATATAGA	0.383													A	155154476	G	A	155154476	1	1	364	1	0	0	0	0	0	0	0	0	15991	1319	46	2		2	TIAM2	6	155154476	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	665421	155154476	15960591	5733	29235											
TIAM2	26230	broad.mit.edu	37	chr6	155451107	155451107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttctgagtcatcctggtaCgactccccttggggcaatgc	7	11	11	12	1	2	1	1	1	1	0	4	2	4	1	3	3	2	3	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451107C>T	ENST00000461783.3	+	6	2023	c.750C>T	c.(748-750)taC>taT	p.Y250Y	TIAM2_ENST00000318981.5_Silent_p.Y250Y|TIAM2_ENST00000529824.2_Silent_p.Y250Y|TIAM2_ENST00000360366.4_Silent_p.Y250Y|TIAM2_ENST00000456144.1_Silent_p.Y250Y|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	250					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CATCCTGGTACGACTCCCCTT	0.662													T	155451107	C	T	155451107	2	4	364	1	0	0	0	0	0	0	0	1	15991	547	19	1		1	TIAM2	6	155451107	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296631	155451107	15663960	5734	29236											
TIAM2	26230	broad.mit.edu	37	chr6	155451209	155451209	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccagcttcccacctggCgatgccaaaaagcctttcaa	11	8	7	15	1	1	0	1	0	0	0	2	1	2	0	5	1	4	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155451209C>T	ENST00000461783.3	+	6	2125	c.852C>T	c.(850-852)ggC>ggT	p.G284G	TIAM2_ENST00000318981.5_Silent_p.G284G|TIAM2_ENST00000529824.2_Silent_p.G284G|TIAM2_ENST00000360366.4_Silent_p.G284G|TIAM2_ENST00000456144.1_Silent_p.G284G|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	284					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCCCACCTGGCGATGCCAAAA	0.622													T	155451209	C	T	155451209	2	4	364	1	0	0	0	0	0	0	0	1	15991	755	27	1		1	TIAM2	6	155451209	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	155451209	15663858	5735	29237											
TIAM2	26230	broad.mit.edu	37	chr6	155458711	155458711	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcttgagctggtggcacGaaggaaatggaaacagtact	14	7	14	6	1	0	1	0	1	0	0	0	5	0	3	0	4	4	4	0	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155458711G>A	ENST00000461783.3	+	7	2868	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	TIAM2_ENST00000318981.5_Missense_Mutation_p.R532Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R532Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R532Q|TIAM2_ENST00000456144.1_Missense_Mutation_p.R532Q|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	532	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		CTGGTGGCACGAAGGAAATGG	0.572													A	155458711	G	A	155458711	3	1	364	1	0	0	0	0	1	0	0	0	15991	1058	37	1	1601	1	TIAM2	6	155458711	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7502	155458711	15656356	5736	29238											
TIAM2	26230	broad.mit.edu	37	chr6	155532416	155532416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggatcaggtttcccacaGggagaaaatggagcagacat	13	8	12	8	0	2	2	1	0	1	2	3	5	3	4	1	4	1	2	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155532416G>T	ENST00000461783.3	+	17	4416	c.3143G>T	c.(3142-3144)aGg>aTg	p.R1048M	TIAM2_ENST00000318981.5_Missense_Mutation_p.R1048M|TIAM2_ENST00000528391.2_Missense_Mutation_p.R384M|TIAM2_ENST00000529824.2_Missense_Mutation_p.R1048M|TIAM2_ENST00000456877.2_Missense_Mutation_p.R360M|TIAM2_ENST00000360366.4_Missense_Mutation_p.R1072M|TIAM2_ENST00000456144.1_Missense_Mutation_p.R1048M|TIAM2_ENST00000367174.2_Missense_Mutation_p.R424M			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1048					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTTTCCCACAGGGAGAAAATG	0.473													T	155532416	G	T	155532416	3	4	364	1	0	0	0	0	1	0	0	0	15991	1000	35	4	3189	4	TIAM2	6	155532416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73705	155532416	15582651	5737	29239											
NOX3	50508	broad.mit.edu	37	chr6	155732473	155732473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaagctcttgcatcccGgcaaatccagtagaaataca	15	8	6	12	1	2	1	1	0	1	1	4	1	4	1	2	1	3	4	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155732473G>A	ENST00000159060.2	-	11	1432	c.1330C>T	c.(1330-1332)Cgg>Tgg	p.R444W		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	444							electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		CTTGCATCCCGGCAAATCCAG	0.413													A	155732473	G	A	155732473	3	1	364	1	0	0	0	0	1	0	0	0	10633	1115	39	1	388	1	NOX3	6	155732473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200057	155732473	15382594	5738	29240											
NOX3	50508	broad.mit.edu	37	chr6	155761125	155761125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaggctgagaaagaagacGatgaaaacatggtgtgtgta	15	7	14	5	1	0	4	0	2	0	3	0	6	0	4	1	2	1	2	1	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:155761125G>A	ENST00000159060.2	-	6	735	c.633C>T	c.(631-633)atC>atT	p.I211I		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	211	Ferric oxidoreductase.						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GAAAGAAGACGATGAAAACAT	0.463													A	155761125	G	A	155761125	2	1	364	1	0	0	0	0	0	0	0	1	10633	1048	37	1		1	NOX3	6	155761125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28652	155761125	15353942	5739	29241											
ARID1B	57492	broad.mit.edu	37	chr6	157256605	157256605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttttttttaggacatGtctcaggaaggctatggaac	9	16	11	5	0	1	0	1	0	1	0	2	3	1	3	0	4	1	2	0	4	4	6	rs142897795		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157256605G>A	ENST00000346085.5	+	5	1933	c.1932G>A	c.(1930-1932)atG>atA	p.M644I	ARID1B_ENST00000275248.4_Missense_Mutation_p.M573I|ARID1B_ENST00000367148.1_Missense_Mutation_p.M631I|ARID1B_ENST00000350026.5_Missense_Mutation_p.M631I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	631					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TTTAGGACATGTCTCAGGAAG	0.383													A	157256605	G	A	157256605	3	1	364	1	0	0	0	0	1	0	0	0	917	1377	48	2	1950	2	ARID1B	6	157256605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1495480	157256605	13858462	5740	29242											
ARID1B	57492	broad.mit.edu	37	chr6	157454310	157454310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaactcaagtgggacttaCggtccacagatgagccagta	13	8	11	9	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157454310C>T	ENST00000346085.5	+	8	2521	c.2520C>T	c.(2518-2520)taC>taT	p.Y840Y	ARID1B_ENST00000275248.4_Silent_p.Y769Y|ARID1B_ENST00000350026.5_Silent_p.Y827Y|ARID1B_ENST00000367148.1_Silent_p.Y827Y	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	827					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTGGGACTTACGGTCCACAGA	0.478													T	157454310	C	T	157454310	2	4	364	1	0	0	0	0	0	0	0	1	917	547	19	1		1	ARID1B	6	157454310	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197705	157454310	13660757	5741	29243											
ARID1B	57492	broad.mit.edu	37	chr6	157502125	157502125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccagctcctccaccactaCtggggagaagatcacgaagg	11	6	11	13	1	1	2	1	0	0	2	4	4	4	2	4	3	2	1	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502125C>T	ENST00000346085.5	+	12	3159	c.3158C>T	c.(3157-3159)aCt>aTt	p.T1053I	ARID1B_ENST00000275248.4_Missense_Mutation_p.T1035I|ARID1B_ENST00000350026.5_Missense_Mutation_p.T1040I|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.T1093I	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1040	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCCACCACTACTGGGGAGAAG	0.547													T	157502125	C	T	157502125	3	4	364	1	0	0	0	0	1	0	0	0	917	565	20	2	3204	2	ARID1B	6	157502125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47815	157502125	13612942	5742	29244											
ARID1B	57492	broad.mit.edu	37	chr6	157502224	157502224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaagagagaggctctcCtgtctcaagtctgcctgccg	8	9	12	12	1	3	2	1	0	3	2	5	4	3	3	3	2	2	1	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157502224C>T	ENST00000346085.5	+	12	3258	c.3257C>T	c.(3256-3258)cCt>cTt	p.P1086L	ARID1B_ENST00000275248.4_Missense_Mutation_p.P1068L|ARID1B_ENST00000350026.5_Missense_Mutation_p.P1073L|ARID1B_ENST00000478761.2_3'UTR|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1126L	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1073	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		AGAGGCTCTCCTGTCTCAAGT	0.562													T	157502224	C	T	157502224	3	4	364	1	0	0	0	0	1	0	0	0	917	681	24	2	3303	2	ARID1B	6	157502224	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99	157502224	13612843	5743	29245											
ARID1B	57492	broad.mit.edu	37	chr6	157505375	157505375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcactaggttaataaaaAcaagaagtggcgtgagctgg	14	11	11	5	1	1	2	1	1	0	1	1	2	1	2	0	3	2	2	0	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157505375A>G	ENST00000346085.5	+	13	3357	c.3356A>G	c.(3355-3357)aAc>aGc	p.N1119S	ARID1B_ENST00000275248.4_Missense_Mutation_p.N1101S|ARID1B_ENST00000350026.5_Missense_Mutation_p.N1106S|ARID1B_ENST00000367148.1_Missense_Mutation_p.N1159S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1106	ARID.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTTAATAAAAACAAGAAGTGG	0.433													G	157505375	A	G	157505375	3	3	364	1	0	0	0	0	1	0	0	0	917	43	2	3	3406	3	ARID1B	6	157505375	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3151	157505375	13609692	5744	29246											
ARID1B	57492	broad.mit.edu	37	chr6	157528220	157528220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagctgattcttcttcAccacgagcatccagagagaa	12	8	11	10	1	3	3	1	1	2	2	4	6	4	4	2	2	2	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528220A>G	ENST00000346085.5	+	20	5946	c.5945A>G	c.(5944-5946)cAc>cGc	p.H1982R	ARID1B_ENST00000275248.4_Missense_Mutation_p.H1964R|ARID1B_ENST00000350026.5_Missense_Mutation_p.H1969R|ARID1B_ENST00000367148.1_Missense_Mutation_p.H2022R	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1969					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ATTCTTCTTCACCACGAGCAT	0.537													G	157528220	A	G	157528220	3	3	364	1	0	0	0	0	1	0	0	0	917	159	6	3	6023	3	ARID1B	6	157528220	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22845	157528220	13586847	5745	29247											
ARID1B	57492	broad.mit.edu	37	chr6	157528784	157528784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggatggggtcacgatggCccagtaccagcagagccagc	11	4	15	11	1	1	2	1	0	0	2	1	4	1	3	3	4	4	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:157528784C>T	ENST00000346085.5	+	20	6510	c.6509C>T	c.(6508-6510)gCc>gTc	p.A2170V	ARID1B_ENST00000275248.4_Missense_Mutation_p.A2152V|ARID1B_ENST00000350026.5_Missense_Mutation_p.A2157V|ARID1B_ENST00000367148.1_Missense_Mutation_p.A2210V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	2157					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GTCACGATGGCCCAGTACCAG	0.572													T	157528784	C	T	157528784	3	4	364	1	0	0	0	0	1	0	0	0	917	739	26	2	6587	2	ARID1B	6	157528784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564	157528784	13586283	5746	29248											
SNX9	51429	broad.mit.edu	37	chr6	158323018	158323018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagtcagctgatgcaggCggcgctcagcgaggaaacag	11	5	15	10	3	3	2	3	1	0	1	3	4	3	3	0	3	4	3	0	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158323018C>T	ENST00000392185.3	+	6	732	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	187					cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		CTGATGCAGGCGGCGCTCAGC	0.502													T	158323018	C	T	158323018	2	4	364	1	0	0	0	0	0	0	0	1	15003	755	27	1		1	SNX9	6	158323018	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	794234	158323018	12792049	5747	29249											
SNX9	51429	broad.mit.edu	37	chr6	158330965	158330965	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taatcgatctgtaaaccacaGgtataagcactttgactggt	13	12	8	8	1	1	1	0	1	1	0	2	2	1	1	1	2	2	3	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158330965G>T	ENST00000392185.3	+	9	1028	c.857G>T	c.(856-858)aGg>aTg	p.R286M		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	286	PX.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		GTAAACCACAGGTATAAGCAC	0.408													T	158330965	G	T	158330965	3	4	364	1	0	0	0	0	1	0	0	0	15003	1000	35	4	891	4	SNX9	6	158330965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7947	158330965	12784102	5748	29250											
SNX9	51429	broad.mit.edu	37	chr6	158349675	158349675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcaccaaggccatggAtgacggcgtgaaggagctgc	11	6	15	9	2	1	2	1	2	0	0	1	5	1	4	2	4	2	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158349675A>G	ENST00000392185.3	+	12	1400	c.1229A>G	c.(1228-1230)gAt>gGt	p.D410G		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	410	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		AAGGCCATGGATGACGGCGTG	0.622													G	158349675	A	G	158349675	3	3	364	1	0	0	0	0	1	0	0	0	15003	333	12	3	1275	3	SNX9	6	158349675	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18710	158349675	12765392	5749	29251											
SYNJ2	8871	broad.mit.edu	37	chr6	158449920	158449920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccaaggaggaggaacGcctcatagctttgaagaaaa	16	5	13	7	1	1	3	1	1	0	2	1	6	1	6	2	4	2	1	2	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158449920G>A	ENST00000355585.4	+	3	422	c.347G>A	c.(346-348)cGc>cAc	p.R116H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R116H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R116H|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R65H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	116							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		GAGGAGGAACGCCTCATAGCT	0.507													A	158449920	G	A	158449920	3	1	364	1	0	0	0	0	1	0	0	0	15550	1087	38	1	357	1	SYNJ2	6	158449920	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100245	158449920	12665147	5750	29252											
SYNJ2	8871	broad.mit.edu	37	chr6	158454662	158454662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcactcgcttccacaccCgtggcgtgaacgacgacggc	8	5	12	16	6	0	1	0	1	0	0	2	3	1	1	2	3	1	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158454662C>T	ENST00000355585.4	+	4	736	c.661C>T	c.(661-663)Cgt>Tgt	p.R221C	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R221C|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R221C|SYNJ2_ENST00000449859.2_Missense_Mutation_p.R170C	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	221	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTTCCACACCCGTGGCGTGAA	0.627													T	158454662	C	T	158454662	3	4	364	1	0	0	0	0	1	0	0	0	15550	652	23	1	675	1	SYNJ2	6	158454662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4742	158454662	12660405	5751	29253											
SYNJ2	8871	broad.mit.edu	37	chr6	158464356	158464356	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtgccgcagatgatttaCatggacgatggagtgtcatc	9	12	12	8	2	1	2	1	1	0	1	2	5	1	4	1	2	2	1	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158464356C>T	ENST00000355585.4	+	5	795	c.720C>T	c.(718-720)taC>taT	p.Y240Y	SYNJ2_ENST00000367121.3_Silent_p.Y240Y|SYNJ2_ENST00000367122.2_Silent_p.Y240Y|SYNJ2_ENST00000449859.2_Silent_p.Y189Y	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	240	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGATGATTTACATGGACGATG	0.502													T	158464356	C	T	158464356	2	4	364	1	0	0	0	0	0	0	0	1	15550	489	17	2		2	SYNJ2	6	158464356	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9694	158464356	12650711	5752	29254											
SYNJ2	8871	broad.mit.edu	37	chr6	158490681	158490681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttatatctttgtacGtccataccatgtcccgttca	7	17	5	12	2	3	0	1	0	2	0	5	0	5	0	3	0	2	2	3	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158490681G>A	ENST00000355585.4	+	14	1991	c.1916G>A	c.(1915-1917)cGt>cAt	p.R639H	SYNJ2_ENST00000367121.3_Missense_Mutation_p.R639H|SYNJ2_ENST00000367122.2_Missense_Mutation_p.R639H	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	639							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ATCTTTGTACGTCCATACCAT	0.458													A	158490681	G	A	158490681	3	1	364	1	0	0	0	0	1	0	0	0	15550	1145	40	1	1970	1	SYNJ2	6	158490681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26325	158490681	12624386	5753	29255											
SYNJ2	8871	broad.mit.edu	37	chr6	158514936	158514936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagattgttttttgctctcGctctcaagcttctcagcctt	5	17	7	12	1	3	1	2	0	3	1	6	1	3	1	1	0	3	5	1	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158514936G>A	ENST00000367121.3	+	27	3867	c.3761G>A	c.(3760-3762)cGc>cAc	p.R1254H	SYNJ2_ENST00000367122.2_Intron|SYNJ2_ENST00000355585.4_Intron|SYNJ2_ENST00000367112.1_Intron			O15056	SYNJ2_HUMAN	synaptojanin 2	0	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		TTTTGCTCTCGCTCTCAAGCT	0.488													A	158514936	G	A	158514936	3	1	364	1	0	0	0	0	1	0	0	0	15550	1102	38	1		1	SYNJ2	6	158514936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24255	158514936	12600131	5754	29256											
SYNJ2	8871	broad.mit.edu	37	chr6	158516690	158516690	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagcaacagactgtccAttttacaatcgggcccccgg	9	10	10	12	2	0	2	0	1	0	1	2	2	1	2	3	2	3	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516690A>G	ENST00000355585.4	+	27	3860	c.3785A>G	c.(3784-3786)cAt>cGt	p.H1262R	SYNJ2_ENST00000367122.2_Missense_Mutation_p.H1217R|SYNJ2_ENST00000367112.1_Missense_Mutation_p.H347R	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1262	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CAGACTGTCCATTTTACAATC	0.532													G	158516690	A	G	158516690	3	3	364	1	0	0	0	0	1	0	0	0	15550	217	8	3	3891	3	SYNJ2	6	158516690	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1754	158516690	12598377	5755	29257											
SYNJ2	8871	broad.mit.edu	37	chr6	158516907	158516907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtgcccaaggtacccccGaggaggaagaagtcagcccc	10	5	12	14	1	1	1	1	0	0	1	1	4	1	3	5	3	3	1	5	3	4	2	rs3749847		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158516907G>A	ENST00000355585.4	+	27	4077	c.4002G>A	c.(4000-4002)ccG>ccA	p.P1334P	SYNJ2_ENST00000367122.2_Silent_p.P1289P|SYNJ2_ENST00000367112.1_Silent_p.P419P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1334	Pro-rich.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		AGGTACCCCCGAGGAGGAAGA	0.637													A	158516907	G	A	158516907	2	1	364	1	0	0	0	0	0	0	0	1	15550	1045	37	1		1	SYNJ2	6	158516907	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217	158516907	12598160	5756	29258											
SERAC1	84947	broad.mit.edu	37	chr6	158569913	158569913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccagcaaatggattccgCagtatcttggctgatgttgc	9	13	10	9	1	1	1	0	1	1	0	2	2	2	2	2	2	3	5	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158569913C>T	ENST00000367102.2	-	5	480	c.339G>A	c.(337-339)ctG>ctA	p.L113L	SERAC1_ENST00000367101.1_Silent_p.L113L|SERAC1_ENST00000607000.1_Silent_p.L113L|SERAC1_ENST00000367104.3_Silent_p.L113L			Q96JX3	SRAC1_HUMAN	serine active site containing 1	113					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		ATGGATTCCGCAGTATCTTGG	0.338													T	158569913	C	T	158569913	2	4	364	1	0	0	0	0	0	0	0	1	14167	697	25	2		2	SERAC1	6	158569913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53006	158569913	12545154	5757	29259											
SERAC1	84947	broad.mit.edu	37	chr6	158571620	158571620	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgtaagaaataaagaacCtcttaaagagaaaagaaaaa	25	7	6	3	0	1	4	0	0	1	4	1	5	1	4	1	0	1	1	1	0	12	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158571620C>A	ENST00000367102.2	-	4	271	c.130G>T	c.(130-132)Ggt>Tgt	p.G44C	SERAC1_ENST00000367101.1_Splice_Site_p.G44C|SERAC1_ENST00000607000.1_Splice_Site_p.G44C|SERAC1_ENST00000367104.3_Splice_Site_p.G44C			Q96JX3	SRAC1_HUMAN	serine active site containing 1	44					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AATAAAGAACCTCTTAAAGAG	0.308													A	158571620	C	A	158571620	5	1	364	1	0	0	0	0	0	0	1	0	14167	695	24	4	1890	4	SERAC1	6	158571620	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1707	158571620	12543447	5758	29260											
TULP4	56995	broad.mit.edu	37	chr6	158735283	158735283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggataaatttcaacctcCggggccacaatagcgaggtg	13	7	12	9	2	1	1	1	0	0	1	2	3	2	2	3	4	2	0	3	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158735283C>T	ENST00000367097.3	+	1	1592	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	TULP4_ENST00000367094.2_Missense_Mutation_p.R79W	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	79					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TTTCAACCTCCGGGGCCACAA	0.522													T	158735283	C	T	158735283	3	4	364	1	0	0	0	0	1	0	0	0	16878	643	23	1	237	1	TULP4	6	158735283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163663	158735283	12379784	5759	29261											
TULP4	56995	broad.mit.edu	37	chr6	158850911	158850911	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaattacgtgtggcatatgGactcctgacgaccaacaggt	12	9	10	10	2	0	1	0	1	0	0	1	3	1	2	2	3	2	1	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158850911G>A	ENST00000367097.3	+	3	1882	c.525G>A	c.(523-525)tgG>tgA	p.W175*	TULP4_ENST00000367094.2_Nonsense_Mutation_p.W175*	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	175					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGGCATATGGACTCCTGACG	0.498													A	158850911	G	A	158850911	4	1	364	1	0	0	0	0	0	1	0	0	16878	1183	41	2	535	2	TULP4	6	158850911	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	115628	158850911	12264156	5760	29262											
TULP4	56995	broad.mit.edu	37	chr6	158923090	158923090	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgagaccacgaacacctgCagaagtcagccaaggccctg	13	3	10	15	2	1	2	1	0	0	2	1	4	1	2	5	1	3	1	5	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923090C>T	ENST00000367097.3	+	13	3752	c.2395C>T	c.(2395-2397)Cag>Tag	p.Q799*	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	799					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CGAACACCTGCAGAAGTCAGC	0.647													T	158923090	C	T	158923090	4	4	364	1	0	0	0	0	0	1	0	0	16878	711	25	2	2445	2	TULP4	6	158923090	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72179	158923090	12191977	5761	29263											
TULP4	56995	broad.mit.edu	37	chr6	158923412	158923412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgccggccccgcacccGgatgctgtgctcccagaaca	6	6	13	16	3	0	1	0	0	0	1	1	2	1	2	5	3	4	3	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:158923412G>A	ENST00000367097.3	+	13	4074	c.2717G>A	c.(2716-2718)cGg>cAg	p.R906Q	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	906					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCCGCACCCGGATGCTGTGC	0.652													A	158923412	G	A	158923412	3	1	364	1	0	0	0	0	1	0	0	0	16878	1116	39	1	2767	1	TULP4	6	158923412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	322	158923412	12191655	5762	29264											
TMEM181	57583	broad.mit.edu	37	chr6	159010761	159010761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactacactcagtatacaGtgatagtgggatttgaacac	14	11	9	7	0	1	3	1	3	0	0	1	4	1	4	0	1	4	1	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159010761G>T	ENST00000367090.3	+	6	861	c.850G>T	c.(850-852)Gtg>Ttg	p.V284L		NM_020823.1	NP_065874.1	Q9P2C4	TM181_HUMAN	transmembrane protein 181	284					pathogenesis	integral to membrane	toxin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)	22		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;8.15e-18)|BRCA - Breast invasive adenocarcinoma(81;1.38e-05)		TCAGTATACAGTGATAGTGGG	0.433													T	159010761	G	T	159010761	3	4	364	1	0	0	0	0	1	0	0	0	16200	1029	36	4	872	4	TMEM181	6	159010761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87349	159010761	12104306	5763	29265											
DYNLT1	6993	broad.mit.edu	37	chr6	159058914	159058914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataagcgttaccaccaattgCgctttctatagcctagaaaa	14	11	6	10	2	1	1	0	0	1	1	1	1	1	1	3	0	4	2	3	0	8	7	rs142843740		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159058914C>T	ENST00000367085.3	-	3	111	c.82G>A	c.(82-84)Gca>Aca	p.A28T	DYNLT1_ENST00000367089.3_Missense_Mutation_p.A28T|DYNLT1_ENST00000367088.1_5'UTR			P63172	DYLT1_HUMAN	dynein, light chain, Tctex-type 1	28					cell division|establishment of mitotic spindle orientation|intracellular transport of viral proteins in host cell|mitosis|negative regulation of neurogenesis|regulation of G-protein coupled receptor protein signaling pathway	cytoplasmic dynein complex|Golgi apparatus|microtubule|spindle	identical protein binding|motor activity			lung(2)	2		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;4.02e-18)|BRCA - Breast invasive adenocarcinoma(81;9.53e-06)		CCACCAATTGCGCTTTCTATA	0.463													T	159058914	C	T	159058914	3	4	364	1	0	0	0	0	1	0	0	0	4891	768	27	1	271	1	DYNLT1	6	159058914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48153	159058914	12056153	5764	29266											
SYTL3	94120	broad.mit.edu	37	chr6	159084380	159084380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgtaccgagaccaggCggttcaaaacacagaggagg	12	5	14	10	2	1	2	1	0	0	2	2	4	2	3	3	5	2	2	3	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159084380C>T	ENST00000297239.9	+	3	274	c.80C>T	c.(79-81)gCg>gTg	p.A27V	SYTL3_ENST00000360448.3_Missense_Mutation_p.A27V|SYTL3_ENST00000367081.3_5'UTR			Q4VX76	SYTL3_HUMAN	synaptotagmin-like 3	27	RabBD.				intracellular protein transport	endomembrane system|membrane	Rab GTPase binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|urinary_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.54e-17)|BRCA - Breast invasive adenocarcinoma(81;8.24e-06)		CGAGACCAGGCGGTTCAAAAC	0.557													T	159084380	C	T	159084380	3	4	364	1	0	0	0	0	1	0	0	0	15581	768	27	1	82	1	SYTL3	6	159084380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25466	159084380	12030687	5765	29267											
EZR	7430	broad.mit.edu	37	chr6	159187958	159187958	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggctgttacagggcctcGaactcgtcgatgcgctgctt	5	11	12	13	4	0	0	0	0	0	0	3	2	0	0	2	2	4	4	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159187958G>A	ENST00000367075.3	-	14	1917	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	EZR_ENST00000392177.4_Silent_p.F551F|EZR_ENST00000337147.7_Silent_p.F583F	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	583	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		ACAGGGCCTCGAACTCGTCGA	0.607			T	ROS1	NSCLC								A	159187958	G	A	159187958	2	1	364	1	0	0	0	0	0	0	0	1	5377	1049	37	1		1	EZR	6	159187958	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103578	159187958	11927109	5766	29268											
EZR	7430	broad.mit.edu	37	chr6	159190828	159190828	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attcctaccagctgctcctgGctctttatctgatccaccgc	6	13	6	16	1	2	1	0	1	2	0	5	1	5	1	5	1	3	3	5	1	2	4	rs145874025		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159190828G>A	ENST00000367075.3	-	11	1407	c.1239C>T	c.(1237-1239)agC>agT	p.S413S	EZR_ENST00000392177.4_Silent_p.S381S|EZR_ENST00000337147.7_Silent_p.S413S	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	413	Interaction with SCYL3.				actin filament bundle assembly|axon guidance|cytoskeletal anchoring at plasma membrane|leukocyte cell-cell adhesion|membrane to membrane docking|regulation of cell shape	actin filament|apical plasma membrane|basolateral plasma membrane|cortical cytoskeleton|cytosol|extrinsic to membrane|filopodium|microvillus membrane|nucleolus|ruffle membrane	actin filament binding|cell adhesion molecule binding		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GCTGCTCCTGGCTCTTTATCT	0.542			T	ROS1	NSCLC								A	159190828	G	A	159190828	2	1	364	1	0	0	0	0	0	0	0	1	5377	1194	42	2		2	EZR	6	159190828	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2870	159190828	11924239	5767	29269											
FNDC1	84624	broad.mit.edu	37	chr6	159687220	159687220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtggtatcgaaagttcgtgGgagttgttctttgtaattca	8	16	12	5	3	2	0	1	0	1	0	4	2	2	1	0	2	0	5	0	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:159687220G>A	ENST00000297267.9	+	21	5589	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R	FNDC1_ENST00000340366.6_Missense_Mutation_p.G1734R	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1797						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		AAAGTTCGTGGGAGTTGTTCT	0.458													A	159687220	G	A	159687220	3	1	364	1	0	0	0	0	1	0	0	0	6017	1233	43	2	5471	2	FNDC1	6	159687220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	496392	159687220	11427847	5768	29270											
SOD2	6648	broad.mit.edu	37	chr6	160113695	160113695	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcagcctggaacctacccTtggccaacgcctcctggtac	7	8	9	17	1	1	0	1	0	0	0	2	1	2	1	6	3	5	2	6	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160113695T>G	ENST00000538183.2	-	2	384	c.224A>C	c.(223-225)aAg>aCg	p.K75T	SOD2_ENST00000452684.2_Missense_Mutation_p.K75T|SOD2_ENST00000444946.2_Missense_Mutation_p.K75T|SOD2_ENST00000367054.2_Missense_Mutation_p.K75T|SOD2_ENST00000546087.1_Missense_Mutation_p.K29T|SOD2_ENST00000367055.4_Missense_Mutation_p.K75T|SOD2_ENST00000337404.4_Missense_Mutation_p.K75T	NM_000636.2	NP_000627.2	P04179	SODM_HUMAN	superoxide dismutase 2, mitochondrial						age-dependent response to reactive oxygen species|negative regulation of neuron apoptosis|oxygen homeostasis|protein homotetramerization|regulation of transcription from RNA polymerase II promoter|release of cytochrome c from mitochondria|removal of superoxide radicals|vasodilation by acetylcholine involved in regulation of systemic arterial blood pressure		manganese ion binding|superoxide dismutase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(3)|skin(1)	14		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.103)		OV - Ovarian serous cystadenocarcinoma(65;1.4e-18)|BRCA - Breast invasive adenocarcinoma(81;5.77e-06)		GAACCTACCCTTGGCCAACGC	0.652													G	160113695	T	G	160113695	3	3	364	1	0	0	0	0	1	0	0	0	15015	1609	56	5	460	5	SOD2	6	160113695	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	426475	160113695	11001372	5769	29271											
WTAP	9589	broad.mit.edu	37	chr6	160176190	160176190	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcagtctcaggcCtctgccccaagtaccagcag	10	5	10	16	0	2	0	1	0	2	0	3	0	2	0	4	1	6	5	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176190C>A	ENST00000358372.4	+	8	2495	c.738C>A	c.(736-738)gcC>gcA	p.A246A	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	246					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		AGTCTCAGGCCTCTGCCCCAA	0.522													A	160176190	C	A	160176190	2	1	364	1	0	0	0	0	0	0	0	1	17511	668	24	4		4	WTAP	6	160176190	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62495	160176190	10938877	5770	29272											
WTAP	9589	broad.mit.edu	37	chr6	160176228	160176228	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactacagcttctgaacCtgtagaacagtcagaggcca	13	7	10	11	0	2	3	1	1	1	2	2	4	2	4	2	2	4	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160176228C>A	ENST00000358372.4	+	8	2533	c.776C>A	c.(775-777)cCt>cAt	p.P259H	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	259					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		GCTTCTGAACCTGTAGAACAG	0.557													A	160176228	C	A	160176228	3	1	364	1	0	0	0	0	1	0	0	0	17511	681	24	4	806	4	WTAP	6	160176228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38	160176228	10938839	5771	29273											
PNLDC1	154197	broad.mit.edu	37	chr6	160237602	160237602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgcccccacgaagccgCgtatgatgccttcctctgtg	8	9	10	14	3	1	1	0	1	1	0	2	2	2	1	5	0	3	1	5	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160237602C>T	ENST00000610273.1	+	14	1226	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	PNLDC1_ENST00000392167.3_Missense_Mutation_p.A363V	NM_001271862.1|NM_173516.1	NP_001258791.1|NP_775787.1	Q8NA58	PNDC1_HUMAN	poly(A)-specific ribonuclease (PARN)-like domain containing 1							integral to membrane|nucleus	nucleic acid binding	p.A352E(2)|p.A352V(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	31		Breast(66;0.00519)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;1.55e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		CACGAAGCCGCGTATGATGCC	0.468													T	160237602	C	T	160237602	3	4	364	1	0	0	0	0	1	0	0	0	12225	768	27	1	1105	1	PNLDC1	6	160237602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61374	160237602	10877465	5772	29274											
IGF2R	3482	broad.mit.edu	37	chr6	160453618	160453618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcacagctaaatccaactgCcgctatgaaattgagtggat	13	10	8	10	1	1	2	1	2	0	0	2	3	2	3	2	1	3	2	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160453618C>T	ENST00000356956.1	+	8	1066	c.918C>T	c.(916-918)tgC>tgT	p.C306C		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	306					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AATCCAACTGCCGCTATGAAA	0.428													T	160453618	C	T	160453618	2	4	364	1	0	0	0	0	0	0	0	1	7634	747	26	2		2	IGF2R	6	160453618	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216016	160453618	10661449	5773	29275											
IGF2R	3482	broad.mit.edu	37	chr6	160468835	160468835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggattaggaagaggataaCtccacctacaacttccggtg	12	9	11	9	1	0	1	0	0	0	1	2	4	2	4	3	4	3	0	3	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160468835C>T	ENST00000356956.1	+	17	2389	c.2241C>T	c.(2239-2241)aaC>aaT	p.N747N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	747					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		AAGAGGATAACTCCACCTACA	0.537													T	160468835	C	T	160468835	2	4	364	1	0	0	0	0	0	0	0	1	7634	564	20	2		2	IGF2R	6	160468835	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15217	160468835	10646232	5774	29276											
IGF2R	3482	broad.mit.edu	37	chr6	160483581	160483581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggctcaccagcatttcaGcttcaggatggttgtgagta	9	11	12	9	0	3	1	3	1	0	0	3	2	3	2	1	3	2	5	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160483581G>T	ENST00000356956.1	+	26	3748	c.3600G>T	c.(3598-3600)caG>caT	p.Q1200H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1200					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CAGCATTTCAGCTTCAGGATG	0.473													T	160483581	G	T	160483581	3	4	364	1	0	0	0	0	1	0	0	0	7634	962	34	4	3702	4	IGF2R	6	160483581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14746	160483581	10631486	5775	29277											
IGF2R	3482	broad.mit.edu	37	chr6	160485509	160485509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggggacacttgccataaGgtttatcagcgctccacagc	9	8	13	11	1	1	0	1	0	0	0	2	1	2	1	2	4	3	2	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160485509G>T	ENST00000356956.1	+	28	4111	c.3963G>T	c.(3961-3963)aaG>aaT	p.K1321N		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1321					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CTTGCCATAAGGTTTATCAGC	0.522													T	160485509	G	T	160485509	3	4	364	1	0	0	0	0	1	0	0	0	7634	991	35	4	4073	4	IGF2R	6	160485509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1928	160485509	10629558	5776	29278											
IGF2R	3482	broad.mit.edu	37	chr6	160496974	160496974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccttgcttagcggacaaGcatttcaactacacctcgct	10	11	6	14	2	1	0	1	0	0	0	3	1	2	1	2	1	5	3	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160496974G>A	ENST00000356956.1	+	36	5410	c.5262G>A	c.(5260-5262)aaG>aaA	p.K1754K		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1754					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		TAGCGGACAAGCATTTCAACT	0.463													A	160496974	G	A	160496974	2	1	364	1	0	0	0	0	0	0	0	1	7634	962	34	2		2	IGF2R	6	160496974	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11465	160496974	10618093	5777	29279											
SLC22A1	6580	broad.mit.edu	37	chr6	160543249	160543249	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcgctatgaagtggaCtggaaccagagcgccctcag	10	6	14	11	2	1	2	1	1	0	1	1	4	1	4	2	3	3	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160543249C>T	ENST00000366963.4	+	1	429	c.282C>T	c.(280-282)gaC>gaT	p.D94D	SLC22A1_ENST00000324965.4_Silent_p.D94D|SLC22A1_ENST00000457470.2_Silent_p.D94D	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	94						basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding		SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		ATGAAGTGGACTGGAACCAGA	0.667													T	160543249	C	T	160543249	2	4	364	1	0	0	0	0	0	0	0	1	14534	564	20	2		2	SLC22A1	6	160543249	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46275	160543249	10571818	5778	29280											
SLC22A3	6581	broad.mit.edu	37	chr6	160829798	160829798	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttagtgacagaaatagtAggttcgaaacaaaggaggat	16	9	11	5	1	0	2	0	1	0	1	1	5	0	4	1	3	1	2	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160829798A>G	ENST00000392145.1	+	4	729	c.702A>G	c.(700-702)gtA>gtG	p.V234V	SLC22A3_ENST00000275300.2_Silent_p.V234V			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	234						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		CAGAAATAGTAGGTTCGAAAC	0.403													G	160829798	A	G	160829798	2	3	364	1	0	0	0	0	0	0	0	1	14549	407	15	3		3	SLC22A3	6	160829798	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	286549	160829798	10285269	5779	29281											
SLC22A3	6581	broad.mit.edu	37	chr6	160864714	160864714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattttgggggaatcataGccccatttctgctctttcgg	6	15	11	9	1	3	1	1	1	2	0	4	2	3	2	2	3	2	1	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160864714G>A	ENST00000392145.1	+	9	1480	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	SLC22A3_ENST00000275300.2_Missense_Mutation_p.A484T			O75751	S22A3_HUMAN	solute carrier family 22 (organic cation transporter), member 3	484						integral to plasma membrane|membrane fraction	protein binding|quaternary ammonium group transmembrane transporter activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		Breast(66;0.00028)|Ovarian(120;0.0308)|Prostate(117;0.218)		OV - Ovarian serous cystadenocarcinoma(65;9.47e-17)|BRCA - Breast invasive adenocarcinoma(81;9.75e-06)		GGGAATCATAGCCCCATTTCT	0.403													A	160864714	G	A	160864714	3	1	364	1	0	0	0	0	1	0	0	0	14549	971	34	2	1484	2	SLC22A3	6	160864714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34916	160864714	10250353	5780	29282											
LPA	4018	broad.mit.edu	37	chr6	160999636	160999636	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattctgtcactggacatcGtgtcaggttgcagtactccc	7	12	10	12	2	3	0	2	0	1	0	5	2	4	1	1	2	2	3	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:160999636G>A	ENST00000447678.1	-	28	4510	c.4390C>T	c.(4390-4392)Cga>Tga	p.R1464*	LPA_ENST00000316300.5_Nonsense_Mutation_p.R1464*	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3972	Kringle 13.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	ACTGGACATCGTGTCAGGTTG	0.527													A	160999636	G	A	160999636	4	1	364	1	0	0	0	0	0	1	0	0	8973	1153	40	1	1784	1	LPA	6	160999636	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134922	160999636	10115431	5781	29283											
LPA	4018	broad.mit.edu	37	chr6	161010738	161010738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtggggctttgctccGttggtgctgaaattcaaaga	8	12	14	7	1	1	2	1	1	0	1	2	3	2	3	1	4	2	4	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161010738G>A	ENST00000447678.1	-	25	3914	c.3794C>T	c.(3793-3795)aCg>aTg	p.T1265M	LPA_ENST00000316300.5_Missense_Mutation_p.T1265M	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3773	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GCTTTGCTCCGTTGGTGCTGA	0.448													A	161010738	G	A	161010738	3	1	364	1	0	0	0	0	1	0	0	0	8973	1145	40	1	2392	1	LPA	6	161010738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11102	161010738	10104329	5782	29284											
LPA	4018	broad.mit.edu	37	chr6	161015120	161015120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatcaccatggtagcaatCctggaccccggggctttgct	7	10	10	14	1	1	0	1	0	0	0	3	1	3	1	5	4	2	4	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161015120C>A	ENST00000447678.1	-	23	3619	c.3499G>T	c.(3499-3501)Gat>Tat	p.D1167Y	LPA_ENST00000316300.5_Missense_Mutation_p.D1167Y	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3675	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGGTAGCAATCCTGGACCCCG	0.478													A	161015120	C	A	161015120	3	1	364	1	0	0	0	0	1	0	0	0	8973	855	30	4	2695	4	LPA	6	161015120	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4382	161015120	10099947	5783	29285											
LPA	4018	broad.mit.edu	37	chr6	161027655	161027655	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaataaggggctgccacaGgatctggattcctgcagtag	12	8	12	9	0	1	0	0	0	1	0	2	2	2	2	2	4	3	3	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161027655G>T	ENST00000447678.1	-	18	2759	c.2639C>A	c.(2638-2640)cCt>cAt	p.P880H	LPA_ENST00000316300.5_Missense_Mutation_p.P880H	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3388	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	GGCTGCCACAGGATCTGGATT	0.537													T	161027655	G	T	161027655	3	4	364	1	0	0	0	0	1	0	0	0	8973	1000	35	4	3575	4	LPA	6	161027655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12535	161027655	10087412	5784	29286											
PLG	5340	broad.mit.edu	37	chr6	161137785	161137785	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctgggaactttgtgacatCccccgctgcagtgagtatga	8	10	12	11	2	0	3	0	3	0	0	1	4	1	4	2	1	2	4	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161137785C>A	ENST00000308192.9	+	7	840	c.777C>A	c.(775-777)atC>atA	p.I259I		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	259	Kringle 2.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TTTGTGACATCCCCCGCTGCA	0.517													A	161137785	C	A	161137785	2	1	364	1	0	0	0	0	0	0	0	1	12163	845	30	4		4	PLG	6	161137785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110130	161137785	9977282	5785	29287											
PLG	5340	broad.mit.edu	37	chr6	161160111	161160111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctaggtccccaaggcCttcatcctacaaggtcatcc	8	12	6	15	0	3	0	2	0	1	0	6	0	6	0	5	3	1	0	5	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161160111C>A	ENST00000308192.9	+	16	1952	c.1889C>A	c.(1888-1890)cCt>cAt	p.P630H		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	630	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	TCCCCAAGGCCTTCATCCTAC	0.502													A	161160111	C	A	161160111	3	1	364	1	0	0	0	0	1	0	0	0	12163	681	24	4	1955	4	PLG	6	161160111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22326	161160111	9954956	5786	29288											
PLG	5340	broad.mit.edu	37	chr6	161173248	161173248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggaagagtccaatccaccGaactctgtgctgggcatttg	10	10	11	10	1	1	1	0	0	1	1	3	3	3	2	3	2	2	2	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161173248G>A	ENST00000308192.9	+	18	2290	c.2227G>A	c.(2227-2229)Gaa>Aaa	p.E743K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	743	Peptidase S1.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	CCAATCCACCGAACTCTGTGC	0.488													A	161173248	G	A	161173248	3	1	364	1	0	0	0	0	1	0	0	0	12163	1059	37	1	2301	1	PLG	6	161173248	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13137	161173248	9941819	5787	29289											
MAP3K4	4216	broad.mit.edu	37	chr6	161508878	161508878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctatctgcttctgaccaaGcacggtgatcgagcccgtga	8	9	11	13	3	2	3	0	3	2	0	3	4	2	3	3	1	3	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508878G>A	ENST00000392142.4	+	10	2863	c.2715G>A	c.(2713-2715)aaG>aaA	p.K905K	MAP3K4_ENST00000366919.2_Silent_p.K905K|MAP3K4_ENST00000366920.2_Silent_p.K905K|MAP3K4_ENST00000348824.7_Silent_p.K905K	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	905					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TTCTGACCAAGCACGGTGATC	0.507													A	161508878	G	A	161508878	2	1	364	1	0	0	0	0	0	0	0	1	9327	962	34	2		2	MAP3K4	6	161508878	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335630	161508878	9606189	5788	29290											
MAP3K4	4216	broad.mit.edu	37	chr6	161508949	161508949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgtcaaagtcgtgcCtcaggtggagactgttgaca	10	9	12	10	1	2	2	2	1	0	1	3	3	2	2	2	2	2	1	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161508949C>A	ENST00000392142.4	+	10	2934	c.2786C>A	c.(2785-2787)cCt>cAt	p.P929H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.P929H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.P929H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	929					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		AAAGTCGTGCCTCAGGTGGAG	0.522													A	161508949	C	A	161508949	3	1	364	1	0	0	0	0	1	0	0	0	9327	681	24	4	2824	4	MAP3K4	6	161508949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	161508949	9606118	5789	29291											
AGPAT4	56895	broad.mit.edu	37	chr6	161587376	161587376	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcattttccttcccataCttgaggtaggcgcgcgggtc	6	12	12	11	3	0	1	0	1	0	0	3	1	2	1	2	4	1	2	2	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:161587376C>T	ENST00000320285.4	-	3	464	c.252G>A	c.(250-252)aaG>aaA	p.K84K	AGPAT4_ENST00000457520.2_Intron|AGPAT4_ENST00000366911.5_Intron|AGPAT4_ENST00000366908.5_Silent_p.K84K|AGPAT4_ENST00000366905.3_Silent_p.K84K|AGPAT4_ENST00000366906.5_Silent_p.K22K	NM_020133.2	NP_064518.1	Q9NRZ5	PLCD_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 4	84					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity|protein binding			endometrium(1)|large_intestine(10)|lung(10)|ovary(2)|skin(2)	25		Breast(66;0.000289)|Ovarian(120;0.0266)|Prostate(117;0.0285)		OV - Ovarian serous cystadenocarcinoma(65;2.23e-17)|BRCA - Breast invasive adenocarcinoma(81;3.58e-05)		CCTTCCCATACTTGAGGTAGG	0.532													T	161587376	C	T	161587376	2	4	364	1	0	0	0	0	0	0	0	1	389	564	20	2		2	AGPAT4	6	161587376	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78427	161587376	9527691	5790	29292											
PACRG	135138	broad.mit.edu	37	chr6	163510401	163510401	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttggtgccttattaccgtCaaatcctccctgtcctgaac	7	13	6	15	1	1	1	1	1	0	0	4	1	4	1	6	1	3	0	6	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:163510401C>T	ENST00000337019.3	+	5	798	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	PACRG_ENST00000366888.2_Nonsense_Mutation_p.Q192*|PACRG_ENST00000366889.2_Nonsense_Mutation_p.Q192*	NM_152410.2	NP_689623.2	Q96M98	PACRG_HUMAN	PARK2 co-regulated	192										endometrium(2)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Breast(66;2.41e-05)|Ovarian(120;0.0245)|Prostate(117;0.0273)|all_neural(5;0.0416)|Glioma(2;0.203)		OV - Ovarian serous cystadenocarcinoma(33;4.31e-19)|GBM - Glioblastoma multiforme(2;7.42e-11)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)|KIRC - Kidney renal clear cell carcinoma(3;0.205)|Kidney(3;0.242)		TTATTACCGTCAAATCCTCCC	0.478													T	163510401	C	T	163510401	4	4	364	1	0	0	0	0	0	1	0	0	11446	827	29	2	588	2	PACRG	6	163510401	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1923025	163510401	7604666	5791	29293											
C6orf118	168090	broad.mit.edu	37	chr6	165706881	165706881	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaagcacccataaggaaGgacatcacacagacacctgc	17	3	8	13	0	1	1	1	0	0	1	1	3	1	3	2	2	3	2	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165706881G>T	ENST00000543069.1	-	6	1410	c.829C>A	c.(829-831)Ctt>Att	p.L277I	C6orf118_ENST00000230301.8_Intron			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	0										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		CCATAAGGAAGGACATCACAC	0.483													T	165706881	G	T	165706881	3	4	364	1	0	0	0	0	1	0	0	0	2345	1015	35	4		4	C6orf118	6	165706881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2196480	165706881	5408186	5792	29294											
PDE10A	10846	broad.mit.edu	37	chr6	165749631	165749631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgcatgctttcagaagagGctccgtgggagggaggatct	8	9	15	9	1	2	2	1	0	1	2	3	5	3	5	2	4	2	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:165749631G>A	ENST00000366882.1	-	22	2372	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	PDE10A_ENST00000354448.4_Missense_Mutation_p.P740S|PDE10A_ENST00000539869.2_Missense_Mutation_p.P750S			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	740					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	TTCAGAAGAGGCTCCGTGGGA	0.468													A	165749631	G	A	165749631	3	1	364	1	0	0	0	0	1	0	0	0	11706	1203	42	2	129	2	PDE10A	6	165749631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42750	165749631	5365436	5793	29295											
RPS6KA2	6196	broad.mit.edu	37	chr6	166831722	166831722	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtactcactttagctgcGtcagatatcgagtcccagtt	9	13	8	11	2	2	1	2	0	0	1	4	2	3	1	1	0	3	3	1	0	3	5	rs149521975	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166831722G>A	ENST00000510118.1	-	21	2344	c.2004C>T	c.(2002-2004)gaC>gaT	p.D668D	RPS6KA2_ENST00000481261.2_Silent_p.D554D|RPS6KA2_ENST00000405189.3_Silent_p.D554D|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Silent_p.D651D|RPS6KA2_ENST00000265678.4_Silent_p.D643D			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	643	Protein kinase 2.				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)		CTTTAGCTGCGTCAGATATCG	0.473													A	166831722	G	A	166831722	2	1	364	1	0	0	0	0	0	0	0	1	13742	1136	40	1		1	RPS6KA2	6	166831722	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1082091	166831722	4283345	5794	29296											
RPS6KA2	6196	broad.mit.edu	37	chr6	166836766	166836766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggccacgaaattggccGtgtagcagggtgtcatgagc	8	7	16	10	3	1	1	1	1	0	0	1	2	1	1	3	4	2	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:166836766G>A	ENST00000510118.1	-	19	2136	c.1796C>T	c.(1795-1797)aCg>aTg	p.T599M	RPS6KA2_ENST00000481261.2_Missense_Mutation_p.T485M|RPS6KA2_ENST00000405189.3_Missense_Mutation_p.T485M|RPS6KA2_ENST00000509742.1_5'UTR|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T582M|RPS6KA2_ENST00000265678.4_Missense_Mutation_p.T574M			Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	574	Protein kinase 2.				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)		GAAATTGGCCGTGTAGCAGGG	0.642													A	166836766	G	A	166836766	3	1	364	1	0	0	0	0	1	0	0	0	13742	1145	40	1	500	1	RPS6KA2	6	166836766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5044	166836766	4278301	5795	29297											
RPS6KA2	6196	broad.mit.edu	37	chr6	167271707	167271707	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctgcagtgtcttctGtggtgggctccacatccagg	4	14	11	12	0	4	0	0	0	4	0	6	0	6	0	2	3	1	2	2	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167271707G>A	ENST00000507747.1	-	8	474	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	RPS6KA2_ENST00000510118.1_Missense_Mutation_p.T35I|RPS6KA2_ENST00000503859.1_Missense_Mutation_p.T35I																							AGTGTCTTCTGTGGTGGGCTC	0.458													A	167271707	G	A	167271707	4	1	364	1	0	0	0	0	0	1	0	0	13742	1377	48	2	2308	2	RPS6KA2	6	167271707	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	434941	167271707	3843360	5796	29298											
CCR6	1235	broad.mit.edu	37	chr6	167549745	167549745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaatcaatgaatttcagCgatgttttcgactccagtga	12	12	9	8	2	2	2	2	2	0	0	4	5	3	3	1	1	1	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549745C>T	ENST00000341935.5	+	3	579	c.27C>T	c.(25-27)agC>agT	p.S9S	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.S9S|CCR6_ENST00000349984.4_Silent_p.S9S	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	9					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TGAATTTCAGCGATGTTTTCG	0.408													T	167549745	C	T	167549745	2	4	364	1	0	0	0	0	0	0	0	1	2975	767	27	1		1	CCR6	6	167549745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278038	167549745	3565322	5797	29299											
CCR6	1235	broad.mit.edu	37	chr6	167549772	167549772	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgactccagtgaagattaTtttgtgtcagtcaatacttc	10	16	7	8	1	2	2	2	1	0	1	5	3	3	2	1	0	1	0	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167549772T>G	ENST00000341935.5	+	3	606	c.54T>G	c.(52-54)taT>taG	p.Y18*	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Nonsense_Mutation_p.Y18*|CCR6_ENST00000349984.4_Nonsense_Mutation_p.Y18*	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	18					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GTGAAGATTATTTTGTGTCAG	0.413													G	167549772	T	G	167549772	4	3	364	1	0	0	0	0	0	1	0	0	2975	1500	52	5	60	5	CCR6	6	167549772	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27	167549772	3565295	5798	29300											
UNC93A	54346	broad.mit.edu	37	chr6	167708048	167708048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggtgtcacagcgctcaGcaccctctatggaggcatgc	7	8	12	14	1	3	0	2	0	1	0	3	1	3	1	2	3	3	3	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167708048G>T	ENST00000230256.3	+	2	306	c.131G>T	c.(130-132)aGc>aTc	p.S44I	UNC93A_ENST00000366830.2_3'UTR|UNC93A_ENST00000366829.2_Missense_Mutation_p.S44I	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	44						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		ACAGCGCTCAGCACCCTCTAT	0.617													T	167708048	G	T	167708048	3	4	364	1	0	0	0	0	1	0	0	0	17098	971	34	4	137	4	UNC93A	6	167708048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158276	167708048	3407019	5799	29301											
UNC93A	54346	broad.mit.edu	37	chr6	167721318	167721318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactgctgtggagacctcGtgctgaccatctggcagtgt	6	11	12	12	1	1	2	0	1	1	1	2	3	1	2	3	2	3	3	3	2	1	1	rs143452023	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:167721318G>A	ENST00000230256.3	+	7	1203	c.1028G>A	c.(1027-1029)cGt>cAt	p.R343H	UNC93A_ENST00000366829.2_Missense_Mutation_p.R301H	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	343						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TGGAGACCTCGTGCTGACCAT	0.617													A	167721318	G	A	167721318	3	1	364	1	0	0	0	0	1	0	0	0	17098	1145	40	1	1054	1	UNC93A	6	167721318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13270	167721318	3393749	5800	29302											
MLLT4	4301	broad.mit.edu	37	chr6	168276093	168276093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaaccatttctaatcctgaGgtggttatgaaacgacggag	12	10	11	8	3	1	2	0	2	1	0	2	5	2	3	2	3	2	1	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168276093G>T	ENST00000366806.2	+	5	799	c.657G>T	c.(655-657)gaG>gaT	p.E219D	MLLT4_ENST00000400822.3_Missense_Mutation_p.E218D|MLLT4_ENST00000344191.4_Missense_Mutation_p.E219D|MLLT4_ENST00000351017.4_Missense_Mutation_p.E219D|MLLT4_ENST00000392108.3_Missense_Mutation_p.E219D|MLLT4_ENST00000447894.2_Missense_Mutation_p.E219D|MLLT4_ENST00000392112.1_Missense_Mutation_p.E218D			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	219					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTAATCCTGAGGTGGTTATGA	0.423			T	MLL	AL								T	168276093	G	T	168276093	3	4	364	1	0	0	0	0	1	0	0	0	9704	991	35	4	675	4	MLLT4	6	168276093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	554775	168276093	2838974	5801	29303											
MLLT4	4301	broad.mit.edu	37	chr6	168314887	168314887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcacttgccttctggatgGcaaatgcatctgaacttctc	8	12	10	11	0	3	1	0	1	3	0	4	2	3	2	1	3	3	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168314887G>T	ENST00000366806.2	+	16	2219	c.2077G>T	c.(2077-2079)Gca>Tca	p.A693S	MLLT4_ENST00000400822.3_Missense_Mutation_p.A692S|MLLT4_ENST00000344191.4_Missense_Mutation_p.A693S|MLLT4_ENST00000351017.4_Missense_Mutation_p.A700S|MLLT4_ENST00000392108.3_Missense_Mutation_p.A693S|MLLT4_ENST00000447894.2_Missense_Mutation_p.A693S|MLLT4_ENST00000392112.1_Missense_Mutation_p.A677S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	693	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CTTCTGGATGGCAAATGCATC	0.388			T	MLL	AL								T	168314887	G	T	168314887	3	4	364	1	0	0	0	0	1	0	0	0	9704	1203	42	4	2139	4	MLLT4	6	168314887	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38794	168314887	2800180	5802	29304											
MLLT4	4301	broad.mit.edu	37	chr6	168352039	168352039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaccattcctctaagtcGgtcacccctgcttccacact	8	11	5	17	1	2	1	1	1	1	0	5	1	4	1	5	1	2	1	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352039G>A	ENST00000366806.2	+	30	4126	c.3984G>A	c.(3982-3984)tcG>tcA	p.S1328S	MLLT4_ENST00000400822.3_Silent_p.S1327S|MLLT4_ENST00000344191.4_Silent_p.S1328S|MLLT4_ENST00000351017.4_Silent_p.S1335S|MLLT4_ENST00000392108.3_Silent_p.S1328S|MLLT4_ENST00000447894.2_Silent_p.S1328S|MLLT4_ENST00000392112.1_Silent_p.S1311S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1328					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CCTCTAAGTCGGTCACCCCTG	0.547			T	MLL	AL								A	168352039	G	A	168352039	2	1	364	1	0	0	0	0	0	0	0	1	9704	1103	39	1		1	MLLT4	6	168352039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37152	168352039	2763028	5803	29305											
MLLT4	4301	broad.mit.edu	37	chr6	168352062	168352062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacccctgcttccacactgaCcaaaagtggccctggccgtt	8	8	8	17	1	0	1	0	1	0	0	1	1	1	1	6	2	1	2	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168352062C>T	ENST00000366806.2	+	30	4149	c.4007C>T	c.(4006-4008)aCc>aTc	p.T1336I	MLLT4_ENST00000400822.3_Missense_Mutation_p.T1335I|MLLT4_ENST00000344191.4_Missense_Mutation_p.T1336I|MLLT4_ENST00000351017.4_Missense_Mutation_p.T1343I|MLLT4_ENST00000392108.3_Missense_Mutation_p.T1336I|MLLT4_ENST00000447894.2_Missense_Mutation_p.T1336I|MLLT4_ENST00000392112.1_Missense_Mutation_p.T1319I			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1336					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TCCACACTGACCAAAAGTGGC	0.587			T	MLL	AL								T	168352062	C	T	168352062	3	4	364	1	0	0	0	0	1	0	0	0	9704	507	18	2	4121	2	MLLT4	6	168352062	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	168352062	2763005	5804	29306											
KIF25	3834	broad.mit.edu	37	chr6	168445637	168445637	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgcccgaaagaagccGcccagctcccaaacggaggg	10	2	13	16	3	0	1	0	0	0	1	1	3	1	2	5	3	4	1	5	3	3	0	rs139018818		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:168445637G>A	ENST00000443060.2	+	10	1507	c.1116G>A	c.(1114-1116)ccG>ccA	p.P372P	KIF25_ENST00000354419.2_Silent_p.P372P|KIF25_ENST00000351261.3_Silent_p.P320P			Q9UIL4	KIF25_HUMAN	kinesin family member 25	372					microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		GAAAGAAGCCGCCCAGCTCCC	0.547													A	168445637	G	A	168445637	2	1	364	1	0	0	0	0	0	0	0	1	8351	1074	38	1		1	KIF25	6	168445637	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93575	168445637	2669430	5805	29307											
THBS2	7058	broad.mit.edu	37	chr6	169622506	169622506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggcatagtcgtcgtccCggtcagtgtttacgtagaat	8	11	12	10	5	1	1	1	0	0	1	4	1	2	1	2	2	2	3	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622506C>T	ENST00000366787.3	-	20	3308	c.3059G>A	c.(3058-3060)cGg>cAg	p.R1020Q	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1020	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		GTCGTCGTCCCGGTCAGTGTT	0.522													T	169622506	C	T	169622506	3	4	364	1	0	0	0	0	1	0	0	0	15954	652	23	1	475	1	THBS2	6	169622506	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1176869	169622506	1492561	5806	29308											
THBS2	7058	broad.mit.edu	37	chr6	169622519	169622519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtcccggtcagtgtttaCgtagaatgtgccactgaagt	8	12	12	9	3	1	2	1	1	0	1	3	2	2	2	2	1	2	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169622519C>T	ENST00000366787.3	-	20	3295	c.3046G>A	c.(3046-3048)Gta>Ata	p.V1016I	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1016	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TCAGTGTTTACGTAGAATGTG	0.522													T	169622519	C	T	169622519	3	4	364	1	0	0	0	0	1	0	0	0	15954	536	19	1	488	1	THBS2	6	169622519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	169622519	1492548	5807	29309											
THBS2	7058	broad.mit.edu	37	chr6	169637723	169637723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgcccgacactcactgcGggtgtcacacttgctcagac	8	8	9	16	2	3	1	3	0	0	1	3	2	3	1	2	1	3	1	2	1	0	1	rs148970069	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169637723G>A	ENST00000366787.3	-	9	1546	c.1297C>T	c.(1297-1299)Cgc>Tgc	p.R433C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	433					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CACTCACTGCGGGTGTCACAC	0.647													A	169637723	G	A	169637723	3	1	364	1	0	0	0	0	1	0	0	0	15954	1116	39	1	2281	1	THBS2	6	169637723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15204	169637723	1477344	5808	29310											
THBS2	7058	broad.mit.edu	37	chr6	169641932	169641932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggaccatgtttcccagCtcctcgcacgagcgttcgca	6	10	9	16	4	0	0	0	0	0	0	5	2	3	1	4	1	2	5	4	1	0	2	rs145867791	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:169641932C>T	ENST00000366787.3	-	6	1065	c.816G>A	c.(814-816)gaG>gaA	p.E272E		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	272					cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TGTTTCCCAGCTCCTCGCACG	0.657													T	169641932	C	T	169641932	2	4	364	1	0	0	0	0	0	0	0	1	15954	796	28	2		2	THBS2	6	169641932	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4209	169641932	1473135	5809	29311											
WDR27	253769	broad.mit.edu	37	chr6	170033068	170033068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggcagatttgatggacaGgccgtgagtgggcttccgct	6	12	15	8	2	0	3	0	2	0	1	1	4	1	4	2	4	0	3	2	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170033068G>A	ENST00000333572.6	-	21	2717	c.2198C>T	c.(2197-2199)cCt>cTt	p.P733L	WDR27_ENST00000448612.1_Missense_Mutation_p.P733L|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000423258.1_Missense_Mutation_p.P606L			A2RRH5	WDR27_HUMAN	WD repeat domain 27	703										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		TTGATGGACAGGCCGTGAGTG	0.468													A	170033068	G	A	170033068	3	1	364	1	0	0	0	0	1	0	0	0	17386	1000	35	2	395	2	WDR27	6	170033068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391136	170033068	1081999	5810	29312											
WDR27	253769	broad.mit.edu	37	chr6	170064353	170064353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgccacacgacgataatgGtgtccatccatcaaactgaa	13	8	8	12	3	1	1	1	1	0	0	3	3	3	1	3	1	2	0	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170064353G>A	ENST00000333572.6	-	8	1332	c.813C>T	c.(811-813)caC>caT	p.H271H	WDR27_ENST00000448612.1_Silent_p.H271H|WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000420344.2_3'UTR|WDR27_ENST00000423258.1_Silent_p.H144H			A2RRH5	WDR27_HUMAN	WD repeat domain 27	241										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		GACGATAATGGTGTCCATCCA	0.522													A	170064353	G	A	170064353	2	1	364	1	0	0	0	0	0	0	0	1	17386	1252	44	2		2	WDR27	6	170064353	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31285	170064353	1050714	5811	29313											
FAM120B	84498	broad.mit.edu	37	chr6	170626873	170626873	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggcagaaatatgttctTcatcccctcagggctagctg	9	10	10	12	0	3	1	2	0	1	1	4	1	4	1	3	2	1	4	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170626873T>A	ENST00000476287.1	+	2	503	c.395T>A	c.(394-396)tTc>tAc	p.F132Y	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000537664.1_Missense_Mutation_p.F155Y|FAM120B_ENST00000540480.1_Missense_Mutation_p.F144Y	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	132					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		AATATGTTCTTCATCCCCTCA	0.453													A	170626873	T	A	170626873	3	1	364	1	0	0	0	0	1	0	0	0	5462	1783	62	5	397	5	FAM120B	6	170626873	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	562520	170626873	488194	5812	29314											
PDCD2	5134	broad.mit.edu	37	chr6	170889156	170889156	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttatcttccctggattcatgTtttgccatggaatccagttc	7	17	7	10	0	2	0	1	0	1	0	5	2	4	2	3	2	1	2	3	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr6:170889156T>C	ENST00000541970.1	-	4	774	c.696A>G	c.(694-696)aaA>aaG	p.K232K	PDCD2_ENST00000542896.1_Silent_p.K232K|PDCD2_ENST00000392090.2_Silent_p.K199K	NM_001199462.1|NM_002598.3	NP_001186391.1|NP_002589.2	Q16342	PDCD2_HUMAN	programmed cell death 2	232					apoptosis	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(5)	9		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|BRCA - Breast invasive adenocarcinoma(81;4.82e-06)|GBM - Glioblastoma multiforme(31;0.142)		TGGATTCATGTTTTGCCATGG	0.393													C	170889156	T	C	170889156	2	2	364	1	0	0	0	0	0	0	0	1	11695	1722	60	3		3	PDCD2	6	170889156	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	262283	170889156	225911	5813	29315											
FAM20C	56975	broad.mit.edu	37	chr7	195656	195656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacattggtatcaaccggtaCgagctgtactccagacacaa	13	8	8	12	2	1	1	1	0	0	1	2	2	2	1	2	2	4	4	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:195656C>T	ENST00000313766.5	+	2	939	c.708C>T	c.(706-708)taC>taT	p.Y236Y	FAM20C_ENST00000471328.1_3'UTR	NM_020223.3	NP_064608.2	Q8IXL6	DMP4_HUMAN	family with sequence similarity 20, member C	236						extracellular region				endometrium(1)|lung(2)|urinary_tract(1)	4		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.57e-17)|Epithelial(4;1.26e-16)|all cancers(6;4.79e-14)		TCAACCGGTACGAGCTGTACT	0.617													T	195656	C	T	195656	2	4	364	1	0	0	0	0	0	0	0	1	5586	547	19	1		1	FAM20C	7	195656	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		195656	158943007	5814	29316											
HEATR2	54919	broad.mit.edu	37	chr7	794228	794228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctttttcgttccagagCgccgccctgtgctgggctgc	2	13	11	15	3	0	1	0	0	0	1	3	1	2	1	4	1	3	3	4	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794228C>T	ENST00000297440.6	+	5	1047	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	HEATR2_ENST00000313147.5_Missense_Mutation_p.R343C	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	343							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CGTTCCAGAGCGCCGCCCTGT	0.547													T	794228	C	T	794228	3	4	364	1	0	0	0	0	1	0	0	0	7083	768	27	1	1045	1	HEATR2	7	794228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	598572	794228	158344435	5815	29317											
HEATR2	54919	broad.mit.edu	37	chr7	794424	794424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccggaccctgttccaggCctgcaccgacgaggaggcag	7	5	13	16	3	0	0	0	0	0	0	2	4	2	2	6	4	1	3	6	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:794424C>T	ENST00000297440.6	+	5	1243	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	HEATR2_ENST00000313147.5_Missense_Mutation_p.A408V	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	408							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		CTGTTCCAGGCCTGCACCGAC	0.637													T	794424	C	T	794424	3	4	364	1	0	0	0	0	1	0	0	0	7083	739	26	2	1241	2	HEATR2	7	794424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196	794424	158344239	5816	29318											
INTS1	26173	broad.mit.edu	37	chr7	1518100	1518100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacctccaggtcctgaCggaaggccagggcctcggcc	7	5	13	16	2	0	2	0	2	0	0	3	3	2	3	7	5	0	0	7	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:1518100C>T	ENST00000389470.4	-	34	5128	c.5129G>A	c.(5128-5130)cGt>cAt	p.R1710H	INTS1_ENST00000404767.3_Missense_Mutation_p.R1511H			Q8N201	INT1_HUMAN	integrator complex subunit 1	1511					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		CAGGTCCTGACGGAAGGCCAG	0.677													T	1518100	C	T	1518100	3	4	364	1	0	0	0	0	1	0	0	0	7833	536	19	1	2104	1	INTS1	7	1518100	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723676	1518100	157620563	5817	29319											
LFNG	3955	broad.mit.edu	37	chr7	2565976	2565976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtgtgcccctcatccGcagcggcctcttccactccc	3	9	10	19	2	2	0	1	0	1	0	5	0	5	0	6	2	2	2	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2565976G>A	ENST00000222725.5	+	6	940	c.920G>A	c.(919-921)cGc>cAc	p.R307H	LFNG_ENST00000359574.3_Missense_Mutation_p.R307H|LFNG_ENST00000402045.1_Missense_Mutation_p.R178H|LFNG_ENST00000402506.1_Missense_Mutation_p.R236H|LFNG_ENST00000338732.3_Missense_Mutation_p.R178H	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	307					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		CCCCTCATCCGCAGCGGCCTC	0.667													A	2565976	G	A	2565976	3	1	364	1	0	0	0	0	1	0	0	0	8796	1087	38	1	1218	1	LFNG	7	2565976	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1047876	2565976	156572687	5818	29320											
CARD11	84433	broad.mit.edu	37	chr7	2984158	2984158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagtgcgtgaggccctcGtggccttcctccactgtgga	6	9	14	12	2	0	1	0	1	0	0	3	3	2	3	4	4	1	0	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:2984158G>A	ENST00000396946.4	-	5	775	c.372C>T	c.(370-372)caC>caT	p.H124H	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	124					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGAGGCCCTCGTGGCCTTCCT	0.612			Mis		DLBCL								A	2984158	G	A	2984158	2	1	364	1	0	0	0	0	0	0	0	1	2671	1136	40	1		1	CARD11	7	2984158	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	418182	2984158	156154505	5819	29321											
SDK1	221935	broad.mit.edu	37	chr7	4089042	4089042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaccaccattcagttcCtgtggaaccctccgcctcag	8	9	6	18	1	2	0	2	0	0	0	5	1	5	1	7	1	1	1	7	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4089042C>A	ENST00000404826.2	+	18	2804	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M	SDK1_ENST00000389531.3_Missense_Mutation_p.L889M	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	889	Fibronectin type-III 3.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CATTCAGTTCCTGTGGAACCC	0.577													A	4089042	C	A	4089042	3	1	364	1	0	0	0	0	1	0	0	0	14061	680	24	4	2735	4	SDK1	7	4089042	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1104884	4089042	155049621	5820	29322											
SDK1	221935	broad.mit.edu	37	chr7	4260953	4260953	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactgagggacactctggCgacacacctaccacgggcta	10	6	12	13	2	1	1	0	1	1	0	1	4	1	3	2	4	1	1	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4260953C>T	ENST00000404826.2	+	40	5923	c.5784C>T	c.(5782-5784)ggC>ggT	p.G1928G	SDK1_ENST00000389531.3_Silent_p.G1908G	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1928	Fibronectin type-III 13.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		GACACTCTGGCGACACACCTA	0.622													T	4260953	C	T	4260953	2	4	364	1	0	0	0	0	0	0	0	1	14061	755	27	1		1	SDK1	7	4260953	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171911	4260953	154877710	5821	29323											
RADIL	55698	broad.mit.edu	37	chr7	4855923	4855923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaggtaggcgagcatctgCgaggccacctcggggtgcac	9	5	16	11	3	1	1	0	0	1	1	2	3	1	1	2	5	3	3	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:4855923C>T	ENST00000399583.3	-	8	2089	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	RADIL_ENST00000538469.1_Silent_p.S394S|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	634	Dilute.				cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CGAGCATCTGCGAGGCCACCT	0.682													T	4855923	C	T	4855923	2	4	364	1	0	0	0	0	0	0	0	1	13085	755	27	1		1	RADIL	7	4855923	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594970	4855923	154282740	5822	29324											
RBAK	57786	broad.mit.edu	37	chr7	5104164	5104164	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctgccaaaagacacaTctcaccctgcaccagaggaa	14	6	6	15	0	2	2	1	0	2	2	3	3	2	3	4	1	2	1	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5104164T>C	ENST00000396912.1	+	5	1596	c.1077T>C	c.(1075-1077)caT>caC	p.H359H	RBAK-RBAKDN_ENST00000396904.2_Intron|RBAK_ENST00000353796.3_Silent_p.H359H|RBAK-RBAKDN_ENST00000407184.1_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	359					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		AAAAGACACATCTCACCCTGC	0.473													C	5104164	T	C	5104164	2	2	364	1	0	0	0	0	0	0	0	1	13188	1432	50	3		3	RBAK	7	5104164	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	248241	5104164	154034499	5823	29325											
WIPI2	26100	broad.mit.edu	37	chr7	5232791	5232791	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggtcttggccgtcgCgctgttgtctggttagttcc	2	14	14	11	3	2	0	0	0	2	0	4	0	3	0	2	3	1	6	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5232791C>T	ENST00000288828.4	+	2	349	c.117C>T	c.(115-117)cgC>cgT	p.R39R	WIPI2_ENST00000485854.1_Intron|WIPI2_ENST00000404704.3_Silent_p.R39R|WIPI2_ENST00000401525.3_Intron|WIPI2_ENST00000382384.2_Intron	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	39					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TTGGCCGTCGCGCTGTTGTCT	0.388													T	5232791	C	T	5232791	2	4	364	1	0	0	0	0	0	0	0	1	17473	755	27	1		1	WIPI2	7	5232791	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128627	5232791	153905872	5824	29326											
SLC29A4	222962	broad.mit.edu	37	chr7	5327557	5327557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagctggaggaggcggCggaggcggctcagggccagg	7	3	20	11	3	2	0	2	0	0	0	2	3	2	3	2	9	1	2	2	9	0	0	rs137876561	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5327557C>T	ENST00000396872.3	+	2	271	c.110C>T	c.(109-111)gCg>gTg	p.A37V	SLC29A4_ENST00000406453.3_Missense_Mutation_p.A37V|SLC29A4_ENST00000297195.4_Missense_Mutation_p.A37V			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GAGGAGGCGGCGGAGGCGGCT	0.667													T	5327557	C	T	5327557	3	4	364	1	0	0	0	0	1	0	0	0	14631	768	27	1	112	1	SLC29A4	7	5327557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94766	5327557	153811106	5825	29327											
SLC29A4	222962	broad.mit.edu	37	chr7	5330479	5330479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacggacgtggactacctgCatcacaagtacccaggtggg	10	7	12	12	2	2	0	2	0	0	0	2	2	2	2	2	4	3	2	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5330479C>T	ENST00000396872.3	+	3	447	c.286C>T	c.(286-288)Cat>Tat	p.H96Y	SLC29A4_ENST00000406453.3_Missense_Mutation_p.H96Y|SLC29A4_ENST00000297195.4_Missense_Mutation_p.H96Y			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GGACTACCTGCATCACAAGTA	0.627													T	5330479	C	T	5330479	3	4	364	1	0	0	0	0	1	0	0	0	14631	710	25	2	292	2	SLC29A4	7	5330479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2922	5330479	153808184	5826	29328											
SLC29A4	222962	broad.mit.edu	37	chr7	5338707	5338707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcggcggggcctacatgcGctttgatgtgccgcggccaa	6	7	15	13	5	0	1	0	1	0	0	0	1	0	1	3	4	4	1	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5338707G>A	ENST00000396872.3	+	8	1132	c.971G>A	c.(970-972)cGc>cAc	p.R324H	SLC29A4_ENST00000406453.3_Missense_Mutation_p.R310H|SLC29A4_ENST00000297195.4_Missense_Mutation_p.R324H			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4						nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)		GCCTACATGCGCTTTGATGTG	0.711													A	5338707	G	A	5338707	3	1	364	1	0	0	0	0	1	0	0	0	14631	1087	38	1	997	1	SLC29A4	7	5338707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8228	5338707	153799956	5827	29329											
TNRC18	84629	broad.mit.edu	37	chr7	5347924	5347924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcattttcgtccacatgcGaggactggtatagcgcgcgc	7	10	12	12	6	1	0	1	0	0	0	3	2	2	1	1	2	2	1	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5347924G>A	ENST00000399537.4	-	30	9068	c.8720C>T	c.(8719-8721)tCg>tTg	p.S2907L	TNRC18_ENST00000430969.1_Missense_Mutation_p.S2907L			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2907	BAH.						DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCCACATGCGAGGACTGGTA	0.627													A	5347924	G	A	5347924	3	1	364	1	0	0	0	0	1	0	0	0	16439	1059	37	1	190	1	TNRC18	7	5347924	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9217	5347924	153790739	5828	29330											
TNRC18	84629	broad.mit.edu	37	chr7	5348995	5348995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttgcccttcatgccaCgccgctgcaaggacacgtgt	6	8	12	15	3	1	0	1	0	0	0	1	1	1	1	4	2	3	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5348995C>T	ENST00000399537.4	-	28	8741	c.8393G>A	c.(8392-8394)cGt>cAt	p.R2798H	TNRC18_ENST00000430969.1_Missense_Mutation_p.R2798H			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2798							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTTCATGCCACGCCGCTGCAA	0.682													T	5348995	C	T	5348995	3	4	364	1	0	0	0	0	1	0	0	0	16439	536	19	1	525	1	TNRC18	7	5348995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1071	5348995	153789668	5829	29331											
TNRC18	84629	broad.mit.edu	37	chr7	5399145	5399145	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaccccttgtgtctctttcTtatccctgctcccagctcat	5	15	5	16	0	3	1	1	0	2	1	6	1	5	1	4	0	2	2	4	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5399145T>G	ENST00000399537.4	-	15	5065	c.4717A>C	c.(4717-4719)Aga>Cga	p.R1573R	TNRC18_ENST00000430969.1_Silent_p.R1573R			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1573							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TGTCTCTTTCTTATCCCTGCT	0.557													G	5399145	T	G	5399145	2	3	364	1	0	0	0	0	0	0	0	1	16439	1617	56	5		5	TNRC18	7	5399145	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50150	5399145	153739518	5830	29332											
FBXL18	80028	broad.mit.edu	37	chr7	5529774	5529774	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgcccagtggctcgagaCgtcctggctgatggctcttc	4	9	14	14	4	1	2	0	1	1	1	4	3	2	2	2	4	0	3	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5529774C>T	ENST00000453700.3	-	5	2187	c.2070G>A	c.(2068-2070)acG>acA	p.T690T	FBXL18_ENST00000382368.3_Intron			Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	690									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TGGCTCGAGACGTCCTGGCTG	0.607													T	5529774	C	T	5529774	2	4	364	1	0	0	0	0	0	0	0	1	5763	551	19	1		1	FBXL18	7	5529774	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130629	5529774	153608889	5831	29333											
FBXL18	80028	broad.mit.edu	37	chr7	5540990	5540990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgcaggagggaagagcCgttcagccaggacttgggca	9	6	17	9	1	1	1	1	0	0	1	1	4	1	4	2	4	4	4	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5540990C>T	ENST00000382368.3	-	3	1033	c.910G>A	c.(910-912)Ggc>Agc	p.G304S	FBXL18_ENST00000453700.3_Missense_Mutation_p.G304S	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	304									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		AGGGAAGAGCCGTTCAGCCAG	0.592													T	5540990	C	T	5540990	3	4	364	1	0	0	0	0	1	0	0	0	5763	652	23	1	1258	1	FBXL18	7	5540990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11216	5540990	153597673	5832	29334											
ACTB	60	broad.mit.edu	37	chr7	5568063	5568063	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagtccagggcgacgtaGcacagcttctccttaatgtc	9	10	10	12	3	1	0	0	0	1	0	5	2	2	0	2	1	2	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5568063G>A	ENST00000331789.5	-	4	842	c.651C>T	c.(649-651)tgC>tgT	p.C217C		NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	217					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		GGGCGACGTAGCACAGCTTCT	0.592													A	5568063	G	A	5568063	2	1	364	1	0	0	0	0	0	0	0	1	193	963	34	2		2	ACTB	7	5568063	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27073	5568063	153570600	5833	29335											
FSCN1	6624	broad.mit.edu	37	chr7	5643168	5643168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcgagtggcgtgaccggcGcatcacactgagggcgtcca	8	6	14	13	5	1	2	1	2	0	0	3	3	2	2	2	3	0	1	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5643168G>A	ENST00000382361.3	+	3	1145	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	FSCN1_ENST00000340250.6_Missense_Mutation_p.R323H	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	344					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CGTGACCGGCGCATCACACTG	0.622													A	5643168	G	A	5643168	3	1	364	1	0	0	0	0	1	0	0	0	6119	1087	38	1	1041	1	FSCN1	7	5643168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75105	5643168	153495495	5834	29336											
FSCN1	6624	broad.mit.edu	37	chr7	5645040	5645040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgggcgctacctgaagggcGaccacgcaggcgtcctgaag	8	4	16	13	5	0	2	0	2	0	0	1	3	1	2	3	3	1	2	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5645040G>A	ENST00000382361.3	+	5	1531	c.1417G>A	c.(1417-1419)Gac>Aac	p.D473N	FSCN1_ENST00000340250.6_Missense_Mutation_p.D452N	NM_003088.3	NP_003079.1	Q16658	FSCN1_HUMAN	fascin homolog 1, actin-bundling protein (Strongylocentrotus purpuratus)	473					actin filament bundle assembly|cell migration|cell proliferation	cell junction|cytoplasm|filopodium|invadopodium|stress fiber	actin filament binding|drug binding|protein binding, bridging			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;1.21e-13)		CCTGAAGGGCGACCACGCAGG	0.667													A	5645040	G	A	5645040	3	1	364	1	0	0	0	0	1	0	0	0	6119	1058	37	1	1435	1	FSCN1	7	5645040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1872	5645040	153493623	5835	29337											
RNF216	54476	broad.mit.edu	37	chr7	5692115	5692115	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggccattatgttctttccaGagtccctgacacttcctaca	9	13	6	13	0	1	2	0	1	1	1	4	2	4	2	4	1	1	1	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5692115G>A	ENST00000425013.2	-	14	2141	c.1917C>T	c.(1915-1917)ctC>ctT	p.L639L	RNF216_ENST00000389902.3_Silent_p.L696L	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	639					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		GTTCTTTCCAGAGTCCCTGAC	0.478													A	5692115	G	A	5692115	2	1	364	1	0	0	0	0	0	0	0	1	13571	929	33	2		2	RNF216	7	5692115	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47075	5692115	153446548	5836	29338											
RNF216	54476	broad.mit.edu	37	chr7	5781361	5781361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctctagactttttaGgcctttcttctcccaacctt	6	17	5	13	0	3	1	0	0	3	1	4	1	3	1	3	1	3	2	3	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:5781361G>T	ENST00000389902.3	-	4	554	c.287C>A	c.(286-288)cCt>cAt	p.P96H	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	64					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		AGACTTTTTAGGCCTTTCTTC	0.413													T	5781361	G	T	5781361	3	4	364	1	0	0	0	0	1	0	0	0	13571	1000	35	4	2540	4	RNF216	7	5781361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89246	5781361	153357302	5837	29339											
PMS2	5395	broad.mit.edu	37	chr7	6026903	6026903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcagaatccacggaagtgCtgccgtgccccgagtccttc	7	8	10	16	3	1	1	1	0	0	1	4	3	3	2	6	1	3	1	6	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6026903C>A	ENST00000265849.7	-	11	1598	c.1493G>T	c.(1492-1494)aGc>aTc	p.S498I	PMS2_ENST00000406569.3_Missense_Mutation_p.S498I|PMS2_ENST00000469652.1_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.S392I	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	498					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CACGGAAGTGCTGCCGTGCCC	0.627			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	6026903	C	A	6026903	3	1	364	1	0	0	0	0	1	0	0	0	12220	797	28	4	1115	4	PMS2	7	6026903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245542	6026903	153111760	5838	29340											
PMS2	5395	broad.mit.edu	37	chr7	6042121	6042121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattccttatggcgcacaGgtagtgtggaaaataactgc	13	10	11	7	1	0	0	0	0	0	0	1	2	1	1	1	3	2	2	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6042121G>A	ENST00000265849.7	-	5	605	c.500C>T	c.(499-501)cCt>cTt	p.P167L	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.P167L|PMS2_ENST00000382321.4_Missense_Mutation_p.P167L|PMS2_ENST00000441476.2_Missense_Mutation_p.P61L	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	167					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		ATGGCGCACAGGTAGTGTGGA	0.423			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				A	6042121	G	A	6042121	3	1	364	1	0	0	0	0	1	0	0	0	12220	1000	35	2	2132	2	PMS2	7	6042121	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15218	6042121	153096542	5839	29341											
PMS2	5395	broad.mit.edu	37	chr7	6043351	6043351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagtgagctcagagcttccCcccgaaagccaaaagtttca	14	7	8	12	1	2	2	2	1	0	1	3	3	3	2	4	0	3	3	4	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6043351C>T	ENST00000265849.7	-	4	428	c.323G>A	c.(322-324)gGg>gAg	p.G108E	PMS2_ENST00000469652.1_Intron|PMS2_ENST00000406569.3_Missense_Mutation_p.G108E|PMS2_ENST00000382321.4_Missense_Mutation_p.G108E|PMS2_ENST00000441476.2_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	108					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CAGAGCTTCCCCCCGAAAGCC	0.403			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				T	6043351	C	T	6043351	3	4	364	1	0	0	0	0	1	0	0	0	12220	623	22	2	2313	2	PMS2	7	6043351	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1230	6043351	153095312	5840	29342											
AIMP2	7965	broad.mit.edu	37	chr7	6054859	6054859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatgagttgaaagctgcagTtgatggcctctccaagatga	11	11	12	7	0	1	5	0	4	1	1	2	5	1	5	2	1	2	5	2	1	3	3	rs150139402		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6054859T>C	ENST00000223029.3	+	2	337	c.218T>C	c.(217-219)gTt>gCt	p.V73A	AIMP2_ENST00000400479.2_5'UTR|AIMP2_ENST00000395236.2_Intron	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	73					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						AAAGCTGCAGTTGATGGCCTC	0.458													C	6054859	T	C	6054859	3	2	364	1	0	0	0	0	1	0	0	0	434	1725	60	3	224	3	AIMP2	7	6054859	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11508	6054859	153083804	5841	29343											
EIF2AK1	27102	broad.mit.edu	37	chr7	6078266	6078266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcgagagctcacacaGctgcatctggatgtgcagca	11	6	11	13	1	2	1	1	0	1	1	2	3	2	2	1	1	6	5	1	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6078266G>A	ENST00000199389.6	-	10	1302	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	EIF2AK1_ENST00000536084.1_Silent_p.L262L	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	386	Protein kinase.				negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		AGCTCACACAGCTGCATCTGG	0.547													A	6078266	G	A	6078266	2	1	364	1	0	0	0	0	0	0	0	1	5035	962	34	2		2	EIF2AK1	7	6078266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23407	6078266	153060397	5842	29344											
RAC1	5879	broad.mit.edu	37	chr7	6426844	6426844	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttctctttctctttagaGctgtaggtaaaacttgccta	8	19	6	8	0	2	1	0	0	2	1	4	1	2	1	1	1	3	3	1	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6426844G>A	ENST00000348035.4	+	2	250	c.37G>A	c.(37-39)Gct>Act	p.A13T	RAC1_ENST00000356142.4_Splice_Site_p.A13T|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	13					actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Pravastatin(DB00175)|Simvastatin(DB00641)	TCTCTTTAGAGCTGTAGGTAA	0.323													A	6426844	G	A	6426844	5	1	364	1	0	0	0	0	0	0	1	0	13062	985	34	2	43	2	RAC1	7	6426844	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348578	6426844	152711819	5843	29345											
DAGLB	221955	broad.mit.edu	37	chr7	6452454	6452454	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttaccttgggtttattGcagtgcgcgaccactcgcaa	7	11	10	13	4	0	0	0	0	0	0	1	1	0	0	3	1	3	4	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6452454G>A	ENST00000428902.2	-	12	1433	c.1135C>T	c.(1135-1137)Caa>Taa	p.Q379*	DAGLB_ENST00000425398.2_Silent_p.C390C|DAGLB_ENST00000297056.6_Silent_p.C519C|DAGLB_ENST00000436575.1_Silent_p.C478C			Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	0					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TGGGTTTATTGCAGTGCGCGA	0.572													A	6452454	G	A	6452454	4	1	364	1	0	0	0	0	0	1	0	0	4261	1311	46	2	473	2	DAGLB	7	6452454	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25610	6452454	152686209	5844	29346											
KDELR2	11014	broad.mit.edu	37	chr7	6505922	6505922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcggaaggatagccacGgactccaggtagatggagaa	13	5	15	8	2	0	2	0	0	0	2	1	6	1	5	2	5	3	2	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6505922G>A	ENST00000258739.4	-	4	568	c.384C>T	c.(382-384)tcC>tcT	p.S128S	DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron|KDELR2_ENST00000490996.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	128					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity	p.S128S(1)		central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGATAGCCACGGACTCCAGGT	0.542													A	6505922	G	A	6505922	2	1	364	1	0	0	0	0	0	0	0	1	8178	1103	39	1		1	KDELR2	7	6505922	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53468	6505922	152632741	5845	29347											
ZDHHC4	55146	broad.mit.edu	37	chr7	6621738	6621738	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtcctgcacctggtcttgCaagggatggtttatactgag	7	14	12	8	0	1	1	0	1	1	0	2	2	2	2	2	3	3	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6621738C>T	ENST00000396706.2	+	5	669	c.226C>T	c.(226-228)Caa>Taa	p.Q76*	ZDHHC4_ENST00000396709.1_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396707.2_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000335965.6_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000405731.3_Nonsense_Mutation_p.Q76*|ZDHHC4_ENST00000396713.2_Nonsense_Mutation_p.Q76*|AC079742.4_ENST00000434951.1_RNA			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	76						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		CCTGGTCTTGCAAGGGATGGT	0.453													T	6621738	C	T	6621738	4	4	364	1	0	0	0	0	0	1	0	0	17718	711	25	2	236	2	ZDHHC4	7	6621738	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115816	6621738	152516925	5846	29348											
ZNF12	7559	broad.mit.edu	37	chr7	6732108	6732108	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcatagcttccatcactActaatatattctgaaacaga	14	13	4	10	0	2	2	1	1	1	1	3	2	3	2	1	0	4	2	1	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732108A>G	ENST00000405858.1	-	5	1006	c.465T>C	c.(463-465)agT>agC	p.S155S	ZNF12_ENST00000404360.1_Silent_p.S81S|ZNF12_ENST00000342651.5_Silent_p.S117S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	155					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTCCATCACTACTAATATATT	0.373													G	6732108	A	G	6732108	2	3	364	1	0	0	0	0	0	0	0	1	17819	388	14	3		3	ZNF12	7	6732108	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	110370	6732108	152406555	5847	29349											
ZNF12	7559	broad.mit.edu	37	chr7	6732277	6732277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaacacagtttgccttgaaGgtttattttcctcttcctgg	7	17	8	9	0	1	2	0	2	1	0	3	2	3	2	3	2	2	2	3	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6732277G>T	ENST00000405858.1	-	5	837	c.296C>A	c.(295-297)cCt>cAt	p.P99H	ZNF12_ENST00000404360.1_Missense_Mutation_p.P63H|ZNF12_ENST00000342651.5_Missense_Mutation_p.P99H|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	99					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		TTGCCTTGAAGGTTTATTTTC	0.363													T	6732277	G	T	6732277	3	4	364	1	0	0	0	0	1	0	0	0	17819	1000	35	4	1801	4	ZNF12	7	6732277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169	6732277	152406386	5848	29350											
ZNF12	7559	broad.mit.edu	37	chr7	6736973	6736973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcctccactaacacacctgGatagctctgaagtaggaatt	12	10	8	11	0	1	1	0	1	1	0	2	3	2	3	3	2	3	2	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:6736973G>A	ENST00000405858.1	-	4	776	c.235C>T	c.(235-237)Cca>Tca	p.P79S	ZNF12_ENST00000404360.1_Missense_Mutation_p.P43S|ZNF12_ENST00000342651.5_Missense_Mutation_p.P79S|AC073343.13_ENST00000366167.2_RNA	NM_006956.2|NM_016265.3	NP_008887.2|NP_057349.2	P17014	ZNF12_HUMAN	zinc finger protein 12	79	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(3)	16		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0231)		AACACACCTGGATAGCTCTGA	0.433													A	6736973	G	A	6736973	3	1	364	1	0	0	0	0	1	0	0	0	17819	1174	41	2	1866	2	ZNF12	7	6736973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4696	6736973	152401690	5849	29351											
COL28A1	340267	broad.mit.edu	37	chr7	7410484	7410484	+	Frame_Shift_Del	DEL	T	T	-																															ggaatcaaaatcctcacaaaTtttttgaaacaatttttgct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7410484delT	ENST00000399429.3	-	33	3078	c.2938delA	c.(2938-2940)attfs	p.I980fs		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	980	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TCCTCACAAATTTTTTGAAAC	0.338													-	7410484	T	-	7410484	7	5	364	1	0	1	0	1	0	0	0	0	3717	1493	52	0	451	0	COL28A1	7	7410484	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	673511	7410484	151728179	5850	29352											
COL28A1	340267	broad.mit.edu	37	chr7	7412808	7412808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagtttctctttatcaCgagaatctgtctgtccatca	8	16	6	11	1	6	1	3	0	3	1	8	2	7	1	1	0	0	1	1	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7412808C>T	ENST00000399429.3	-	32	2869	c.2729G>A	c.(2728-2730)cGt>cAt	p.R910H		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	910	VWFA 2.				cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTTTATCACGAGAATCTGT	0.453													T	7412808	C	T	7412808	3	4	364	1	0	0	0	0	1	0	0	0	3717	536	19	1	664	1	COL28A1	7	7412808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2324	7412808	151725855	5851	29353											
COL28A1	340267	broad.mit.edu	37	chr7	7476095	7476095	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcctcctctatctccCtgtacatttcaaataacatt	10	14	3	14	0	3	0	1	0	2	0	6	0	5	0	4	1	2	1	4	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7476095C>A	ENST00000399429.3	-	23	1932		c.e23-1			NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1						cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		CTCTATCTCCCTGTACATTTC	0.398													A	7476095	C	A	7476095	5	1	364	1	0	0	0	0	0	0	1	0	3717	695	24	4	1638	4	COL28A1	7	7476095	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63287	7476095	151662568	5852	29354											
MIOS	54468	broad.mit.edu	37	chr7	7612975	7612975	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccactttaacaagggataGtaatattattagattgtatg	14	15	8	4	0	0	1	0	0	0	1	0	2	0	2	1	1	2	2	1	1	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7612975G>T	ENST00000340080.4	+	4	1290	c.869G>T	c.(868-870)aGt>aTt	p.S290I	MIOS_ENST00000405785.1_Missense_Mutation_p.S290I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	290										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						ACAAGGGATAGTAATATTATT	0.408													T	7612975	G	T	7612975	3	4	364	1	0	0	0	0	1	0	0	0	9664	1029	36	4	871	4	MIOS	7	7612975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136880	7612975	151525688	5853	29355											
MIOS	54468	broad.mit.edu	37	chr7	7625343	7625343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactccctttggagagaaatGtgtagcacactgcgattaca	13	10	9	9	1	0	1	0	0	0	1	1	4	1	2	1	1	4	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7625343G>A	ENST00000340080.4	+	7	2146	c.1725G>A	c.(1723-1725)atG>atA	p.M575I	MIOS_ENST00000405785.1_Missense_Mutation_p.M575I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	575										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GGAGAGAAATGTGTAGCACAC	0.408													A	7625343	G	A	7625343	3	1	364	1	0	0	0	0	1	0	0	0	9664	1377	48	2	1739	2	MIOS	7	7625343	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12368	7625343	151513320	5854	29356											
MIOS	54468	broad.mit.edu	37	chr7	7646672	7646672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgcacgtgtaaatgtatGcagttggatacaacagggaa	14	9	12	6	1	0	0	0	0	0	0	0	2	0	2	0	2	4	6	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:7646672G>A	ENST00000340080.4	+	13	2998	c.2577G>A	c.(2575-2577)atG>atA	p.M859I	MIOS_ENST00000405785.1_Missense_Mutation_p.M859I	NM_019005.3	NP_061878.3	Q9NXC5	MIO_HUMAN	missing oocyte, meiosis regulator, homolog (Drosophila)	859										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTAAATGTATGCAGTTGGATA	0.418													A	7646672	G	A	7646672	3	1	364	1	0	0	0	0	1	0	0	0	9664	1319	46	2	2615	2	MIOS	7	7646672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21329	7646672	151491991	5855	29357											
ICA1	3382	broad.mit.edu	37	chr7	8167510	8167510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccttacctaccttgtagCgaggcctgtaagtctttcat	8	13	7	13	1	2	0	1	0	1	0	2	1	2	0	5	1	3	2	5	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167510C>T	ENST00000402384.3	-	13	1589	c.1323G>A	c.(1321-1323)tcG>tcA	p.S441S	ICA1_ENST00000396675.3_Silent_p.S441S|ICA1_ENST00000422063.2_Silent_p.S470S|ICA1_ENST00000265577.7_Silent_p.S440S|ICA1_ENST00000406470.2_Silent_p.S441S|ICA1_ENST00000401396.1_Silent_p.S429S			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	441					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TACCTTGTAGCGAGGCCTGTA	0.438													T	8167510	C	T	8167510	2	4	364	1	0	0	0	0	0	0	0	1	7535	755	27	1		1	ICA1	7	8167510	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520838	8167510	150971153	5856	29358											
ICA1	3382	broad.mit.edu	37	chr7	8167563	8167563	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgcgaaggaaggaaacCtgagcctgtctgggccttgg	10	7	15	9	1	1	1	0	1	1	0	1	4	1	3	3	4	4	1	3	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8167563C>A	ENST00000402384.3	-	13	1536	c.1270G>T	c.(1270-1272)Ggt>Tgt	p.G424C	ICA1_ENST00000396675.3_Missense_Mutation_p.G424C|ICA1_ENST00000422063.2_Missense_Mutation_p.G453C|ICA1_ENST00000265577.7_Missense_Mutation_p.G423C|ICA1_ENST00000406470.2_Missense_Mutation_p.G424C|ICA1_ENST00000401396.1_Missense_Mutation_p.G412C			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	424					neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		GGAAGGAAACCTGAGCCTGTC	0.527													A	8167563	C	A	8167563	3	1	364	1	0	0	0	0	1	0	0	0	7535	681	24	4	189	4	ICA1	7	8167563	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	8167563	150971100	5857	29359											
ICA1	3382	broad.mit.edu	37	chr7	8178614	8178614	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttttccttaatctaggttaCctgagcatgcagtatgtgta	9	16	9	7	0	1	1	0	1	1	0	2	1	2	1	2	1	3	6	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8178614C>A	ENST00000402384.3	-	11	1285		c.e11+1		ICA1_ENST00000396675.3_Splice_Site|ICA1_ENST00000422063.2_Splice_Site|ICA1_ENST00000265577.7_Splice_Site|ICA1_ENST00000406470.2_Splice_Site|ICA1_ENST00000401396.1_Splice_Site			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa						neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		ATCTAGGTTACCTGAGCATGC	0.333													A	8178614	C	A	8178614	5	1	364	1	0	0	0	0	0	0	1	0	7535	521	18	4	448	4	ICA1	7	8178614	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11051	8178614	150960049	5858	29360											
ICA1	3382	broad.mit.edu	37	chr7	8261009	8261009	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagaaattttcccagttcGttttcttcttgagacaagac	11	14	7	9	2	2	3	0	1	2	3	4	5	3	3	1	0	0	2	1	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:8261009G>A	ENST00000402384.3	-	5	542	c.276C>T	c.(274-276)aaC>aaT	p.N92N	ICA1_ENST00000396675.3_Silent_p.N92N|ICA1_ENST00000422063.2_Silent_p.N92N|ICA1_ENST00000265577.7_Silent_p.N91N|ICA1_ENST00000406470.2_Silent_p.N92N|ICA1_ENST00000407906.1_Silent_p.N92N|ICA1_ENST00000401396.1_Silent_p.N80N			Q05084	ICA69_HUMAN	islet cell autoantigen 1, 69kDa	92	AH.				neurotransmitter transport	cell junction|cytosol|Golgi membrane|nucleus|secretory granule membrane|synaptic vesicle membrane|transport vesicle membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	23		Ovarian(82;0.0612)		UCEC - Uterine corpus endometrioid carcinoma (126;0.246)		TTCCCAGTTCGTTTTCTTCTT	0.423													A	8261009	G	A	8261009	2	1	364	1	0	0	0	0	0	0	0	1	7535	1136	40	1		1	ICA1	7	8261009	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82395	8261009	150877654	5859	29361											
PHF14	9678	broad.mit.edu	37	chr7	11075411	11075411	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaactatcaccagaagcaCaggtatgggattcatgtcaa	15	8	9	9	0	3	1	3	0	0	1	3	2	3	2	1	2	3	3	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11075411C>T	ENST00000403050.3	+	8	2052	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*	PHF14_ENST00000445996.2_Nonsense_Mutation_p.Q249*	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	534							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		ACCAGAAGCACAGGTATGGGA	0.393													T	11075411	C	T	11075411	4	4	364	1	0	0	0	0	0	1	0	0	11902	479	17	2	1630	2	PHF14	7	11075411	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2814402	11075411	148063252	5860	29362											
PHF14	9678	broad.mit.edu	37	chr7	11076172	11076172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagtgcttcagctattcGtaaacttatgcggaaagcag	12	10	10	9	2	1	0	1	0	0	0	2	1	1	1	0	1	6	5	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11076172G>A	ENST00000403050.3	+	9	2182	c.1730G>A	c.(1729-1731)cGt>cAt	p.R577H	PHF14_ENST00000445996.2_Missense_Mutation_p.R292H	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	577							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		TCAGCTATTCGTAAACTTATG	0.468													A	11076172	G	A	11076172	3	1	364	1	0	0	0	0	1	0	0	0	11902	1145	40	1	1764	1	PHF14	7	11076172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	761	11076172	148062491	5861	29363											
PHF14	9678	broad.mit.edu	37	chr7	11091395	11091395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagaacccaagaagattccGataagaaacacggtagttta	17	7	8	9	2	0	4	0	0	0	4	1	5	1	4	3	1	2	2	3	1	7	5	rs150763937	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11091395G>A	ENST00000403050.3	+	14	2921	c.2469G>A	c.(2467-2469)ccG>ccA	p.P823P	PHF14_ENST00000445996.2_Silent_p.P538P	NM_014660.3	NP_055475.2	O94880	PHF14_HUMAN	PHD finger protein 14	823							zinc ion binding			NS(2)|breast(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	35				UCEC - Uterine corpus endometrioid carcinoma (126;0.205)		AGAAGATTCCGATAAGAAACA	0.393													A	11091395	G	A	11091395	2	1	364	1	0	0	0	0	0	0	0	1	11902	1045	37	1		1	PHF14	7	11091395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15223	11091395	148047268	5862	29364											
THSD7A	221981	broad.mit.edu	37	chr7	11676125	11676125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcgccaccacatgacgCgtccggtgctggagcccgct	5	5	16	15	5	0	1	0	1	0	0	1	2	1	2	4	4	2	2	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:11676125C>T	ENST00000423059.4	-	2	905	c.654G>A	c.(652-654)acG>acA	p.T218T		NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 2.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCACATGACGCGTCCGGTGCT	0.612										HNSCC(18;0.044)			T	11676125	C	T	11676125	2	4	364	1	0	0	0	0	0	0	0	1	15979	755	27	1		1	THSD7A	7	11676125	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	584730	11676125	147462538	5863	29365											
TMEM106B	54664	broad.mit.edu	37	chr7	12271476	12271476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttagagttactgtgacaAcaacatactttggccactct	11	15	6	9	0	1	2	0	1	1	1	1	2	1	2	1	1	4	1	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12271476A>G	ENST00000396667.3	+	9	1022	c.700A>G	c.(700-702)Aca>Gca	p.T234A	TMEM106B_ENST00000396668.3_Missense_Mutation_p.T234A	NM_018374.3	NP_060844.2	Q9NUM4	T106B_HUMAN	transmembrane protein 106B							integral to membrane				NS(1)|endometrium(8)|large_intestine(2)|lung(7)	18				UCEC - Uterine corpus endometrioid carcinoma (126;0.185)		TACTGTGACAACAACATACTT	0.343													G	12271476	A	G	12271476	3	3	364	1	0	0	0	0	1	0	0	0	16121	43	2	3	726	3	TMEM106B	7	12271476	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	595351	12271476	146867187	5864	29366											
SCIN	85477	broad.mit.edu	37	chr7	12668726	12668727	+	Splice_Site	INS	-	-	T																															tatattccattccttccagaINStttggcgtgtagaaaacaat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12668726_12668727insT	ENST00000297029.5	+	9	1299_1300	c.1198_1199insT	c.(1198-1200)att>aTtt	p.I400fs	SCIN_ENST00000473722.1_3'UTR|SCIN_ENST00000519209.1_Splice_Site_p.I153fs|SCIN_ENST00000445618.2_Splice_Site_p.I153fs	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	400	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TTCCTTCCAGATTTGGCGTGTA	0.322													T	12668727	-	T	12668726	8	5	364	1	0	1	1	0	0	0	1	0	13998	347	12	0	1232	0	SCIN	7	12668726	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	397250	12668726	146469937	5865	29367											
SCIN	85477	broad.mit.edu	37	chr7	12680116	12680116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaagtccggagaaacCtggcatctatcaccagaatt	12	11	7	11	1	4	2	2	0	2	2	5	3	5	2	3	2	1	1	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12680116C>T	ENST00000297029.5	+	11	1656	c.1555C>T	c.(1555-1557)Ctg>Ttg	p.L519L	SCIN_ENST00000519209.1_Silent_p.L272L|SCIN_ENST00000445618.2_Silent_p.L272L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	519	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCGGAGAAACCTGGCATCTAT	0.448													T	12680116	C	T	12680116	2	4	364	1	0	0	0	0	0	0	0	1	13998	680	24	2		2	SCIN	7	12680116	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11390	12680116	146458547	5866	29368											
ARL4A	10124	broad.mit.edu	37	chr7	12727892	12727892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaaatggggaatgggCtgtcagaccagacttctatc	11	9	12	9	0	2	2	1	0	1	2	3	4	2	4	2	4	0	1	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12727892C>A	ENST00000396663.1	+	2	495	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	ARL4A_ENST00000396662.1_Missense_Mutation_p.L5M|ARL4A_ENST00000396664.2_Missense_Mutation_p.L5M|ARL4A_ENST00000356797.3_Missense_Mutation_p.L5M|ARL4A_ENST00000404894.1_Missense_Mutation_p.L5M	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	5					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		GGGGAATGGGCTGTCAGACCA	0.418													A	12727892	C	A	12727892	3	1	364	1	0	0	0	0	1	0	0	0	941	796	28	4	15	4	ARL4A	7	12727892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47776	12727892	146410771	5867	29369											
ARL4A	10124	broad.mit.edu	37	chr7	12728276	12728276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtccctgtacttatagttGctaacaaacaagatttgagg	13	12	9	7	0	0	2	0	1	0	1	1	3	1	2	1	1	4	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:12728276G>A	ENST00000396663.1	+	2	879	c.397G>A	c.(397-399)Gct>Act	p.A133T	ARL4A_ENST00000396662.1_Missense_Mutation_p.A133T|ARL4A_ENST00000396664.2_Missense_Mutation_p.A133T|ARL4A_ENST00000356797.3_Missense_Mutation_p.A133T|ARL4A_ENST00000404894.1_Missense_Mutation_p.A133T	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	133					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		ACTTATAGTTGCTAACAAACA	0.398													A	12728276	G	A	12728276	3	1	364	1	0	0	0	0	1	0	0	0	941	1319	46	2	399	2	ARL4A	7	12728276	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	384	12728276	146410387	5868	29370											
ETV1	2115	broad.mit.edu	37	chr7	13978856	13978856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgattttcagtggcAggccatgaaaagccactaga	11	12	9	9	0	2	3	1	2	1	1	2	3	2	3	2	2	1	1	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:13978856A>G	ENST00000343495.5	-	6	935	c.197T>C	c.(196-198)cTg>cCg	p.L66P	ETV1_ENST00000405192.2_Missense_Mutation_p.L84P|ETV1_ENST00000405218.2_Missense_Mutation_p.L84P|ETV1_ENST00000242066.5_Missense_Mutation_p.L66P|ETV1_ENST00000420159.2_Missense_Mutation_p.L26P|ETV1_ENST00000476720.2_5'UTR|ETV1_ENST00000403685.1_Missense_Mutation_p.L66P|ETV1_ENST00000399357.3_Missense_Mutation_p.L44P|ETV1_ENST00000403527.1_Missense_Mutation_p.L44P|ETV1_ENST00000430479.1_Missense_Mutation_p.L84P|ETV1_ENST00000405358.4_Missense_Mutation_p.L98P			P50549	ETV1_HUMAN	ets variant 1	84					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTTCAGTGGCAGGCCATGAAA	0.373			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								G	13978856	A	G	13978856	3	3	364	1	0	0	0	0	1	0	0	0	5318	188	7	3	1214	3	ETV1	7	13978856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1250580	13978856	145159807	5869	29371											
ETV1	2115	broad.mit.edu	37	chr7	14027793	14027793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgttacaatttctcccacgCtgactctacaaagggaaaga	13	10	7	11	2	2	2	0	1	2	1	4	3	2	3	1	1	2	2	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14027793C>T	ENST00000343495.5	-	4	789	c.51G>A	c.(49-51)caG>caA	p.Q17Q	ETV1_ENST00000405192.2_Silent_p.Q17Q|ETV1_ENST00000405218.2_Silent_p.Q17Q|ETV1_ENST00000242066.5_Silent_p.Q17Q|ETV1_ENST00000403685.1_Silent_p.Q17Q|ETV1_ENST00000430479.1_Silent_p.Q17Q|ETV1_ENST00000405358.4_Silent_p.Q31Q			P50549	ETV1_HUMAN	ets variant 1	17					transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		TMPRSS2/ETV1(34)|ACSL3_ENST00000357430/ETV1(2)|EWSR1/ETV1(7)|KLK2/ETV1(3)|SLC45A3/ETV1(3)|HNRNPA2B1/ETV1(8)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31						TTCTCCCACGCTGACTCTACA	0.418			T	"EWSR1, TMPRSS2, SLC45A3, C15orf21, HNRNPA2B1. ACSL3"	"Ewing sarcoma, prostate"								T	14027793	C	T	14027793	2	4	364	1	0	0	0	0	0	0	0	1	5318	796	28	2		2	ETV1	7	14027793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48937	14027793	145110870	5870	29372											
DGKB	1607	broad.mit.edu	37	chr7	14722263	14722263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttatcacacttggttgggCagttaccttcaacccagtaa	11	12	7	11	0	2	0	2	0	0	0	2	0	2	0	2	2	2	4	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14722263C>T	ENST00000403951.2	-	12	1369	c.950G>A	c.(949-951)tGc>tAc	p.C317Y	DGKB_ENST00000407950.1_Missense_Mutation_p.C310Y|DGKB_ENST00000399322.3_Missense_Mutation_p.C317Y|DGKB_ENST00000258767.5_Missense_Mutation_p.C317Y|DGKB_ENST00000403963.1_5'UTR|DGKB_ENST00000402815.1_Missense_Mutation_p.C317Y|DGKB_ENST00000406247.3_Missense_Mutation_p.C317Y|DGKB_ENST00000444700.2_Missense_Mutation_p.C310Y			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa	317					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	CTTGGTTGGGCAGTTACCTTC	0.433													T	14722263	C	T	14722263	3	4	364	1	0	0	0	0	1	0	0	0	4505	710	25	2	1539	2	DGKB	7	14722263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	694470	14722263	144416400	5871	29373											
DGKB	1607	broad.mit.edu	37	chr7	14797357	14797357	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttaatttctttgtagaatCtataaaaaacagaaaacaca	19	13	3	6	0	2	2	0	0	2	2	2	2	2	2	0	0	2	1	0	0	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:14797357C>T	ENST00000403951.2	-	3	490		c.e3-1		DGKB_ENST00000407950.1_Splice_Site|DGKB_ENST00000399322.3_Splice_Site|DGKB_ENST00000258767.5_Splice_Site|DGKB_ENST00000403963.1_Splice_Site|DGKB_ENST00000402815.1_Splice_Site|DGKB_ENST00000406247.3_Splice_Site|DGKB_ENST00000444700.2_Splice_Site			Q9Y6T7	DGKB_HUMAN	diacylglycerol kinase, beta 90kDa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(34)|ovary(4)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72					Phosphatidylserine(DB00144)	TTTGTAGAATCTATAAAAAAC	0.323													T	14797357	C	T	14797357	5	4	364	1	0	0	0	0	0	0	1	0	4505	927	32	2	2455	2	DGKB	7	14797357	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75094	14797357	144341306	5872	29374											
ISPD	729920	broad.mit.edu	37	chr7	16131379	16131379	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttgattaatgaagcaaTaatgatagcaccttgcctta	13	14	6	8	0	0	3	0	3	0	0	1	3	1	3	3	0	3	2	3	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16131379T>A	ENST00000407010.2	-	10	1296	c.1297A>T	c.(1297-1299)Att>Ttt	p.I433F	ISPD_ENST00000399310.3_Missense_Mutation_p.I383F	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	433					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						AATGAAGCAATAATGATAGCA	0.328										Multiple Myeloma(15;0.18)			A	16131379	T	A	16131379	3	1	364	1	0	0	0	0	1	0	0	0	7922	1406	49	5	62	5	ISPD	7	16131379	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1334022	16131379	143007284	5873	29375											
ANKMY2	57037	broad.mit.edu	37	chr7	16642099	16642099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcttatgagtaaaccaGtgtgttttctggcaggtttg	8	18	10	5	0	2	1	0	1	2	0	2	1	2	1	1	2	1	4	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642099G>T	ENST00000306999.2	-	9	1290	c.1047C>A	c.(1045-1047)caC>caA	p.H349Q		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	349						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GAGTAAACCAGTGTGTTTTCT	0.368													T	16642099	G	T	16642099	3	4	364	1	0	0	0	0	1	0	0	0	635	1020	36	4	286	4	ANKMY2	7	16642099	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	510720	16642099	142496564	5874	29376											
ANKMY2	57037	broad.mit.edu	37	chr7	16642112	16642112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaccagtgtgttttctggCaggtttgatcacaatatatt	11	16	8	6	0	2	1	1	1	1	0	2	1	2	1	1	2	1	3	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16642112C>T	ENST00000306999.2	-	9	1277	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	345						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		TGTTTTCTGGCAGGTTTGATC	0.363													T	16642112	C	T	16642112	3	4	364	1	0	0	0	0	1	0	0	0	635	710	25	2	299	2	ANKMY2	7	16642112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	16642112	142496551	5875	29377											
ANKMY2	57037	broad.mit.edu	37	chr7	16650315	16650315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatttctcacaaatcaaaTccatcactctgtagcattta	14	14	2	11	0	4	0	3	0	2	0	6	0	5	0	1	0	2	2	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16650315T>C	ENST00000306999.2	-	6	848	c.605A>G	c.(604-606)gAt>gGt	p.D202G		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	202						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		ACAAATCAAATCCATCACTCT	0.383													C	16650315	T	C	16650315	3	2	364	1	0	0	0	0	1	0	0	0	635	1435	50	3	740	3	ANKMY2	7	16650315	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8203	16650315	142488348	5876	29378											
BZW2	28969	broad.mit.edu	37	chr7	16737688	16737688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagcaatatgctcccctgCtggccgtgttcagctcccaa	7	11	8	15	1	2	0	1	0	1	0	4	0	4	0	4	1	4	5	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:16737688C>A	ENST00000433922.2	+	10	1163	c.985C>A	c.(985-987)Ctg>Atg	p.L329M	BZW2_ENST00000258761.3_Missense_Mutation_p.L329M|BZW2_ENST00000405202.1_Missense_Mutation_p.L253M|BZW2_ENST00000407633.1_Missense_Mutation_p.L135M|AC073333.8_ENST00000418907.1_RNA|BZW2_ENST00000452975.2_3'UTR	NM_001159767.1	NP_001153239.1	Q9Y6E2	BZW2_HUMAN	basic leucine zipper and W2 domains 2	329	W2.				cell differentiation|nervous system development|RNA metabolic process		protein binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	15	Lung NSC(10;0.0367)|all_lung(11;0.0837)			UCEC - Uterine corpus endometrioid carcinoma (126;0.199)		TGCTCCCCTGCTGGCCGTGTT	0.507													A	16737688	C	A	16737688	3	1	364	1	0	0	0	0	1	0	0	0	1589	796	28	4	1019	4	BZW2	7	16737688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87373	16737688	142400975	5877	29379											
AHR	196	broad.mit.edu	37	chr7	17379003	17379003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaaattgaccagcctcaGgatgtgaactcatttgctgg	11	10	11	9	0	2	2	2	2	0	0	2	4	2	3	2	2	4	2	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17379003G>T	ENST00000242057.4	+	10	2197	c.1554G>T	c.(1552-1554)caG>caT	p.Q518H	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	518					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ACCAGCCTCAGGATGTGAACT	0.393													T	17379003	G	T	17379003	3	4	364	1	0	0	0	0	1	0	0	0	416	991	35	4	1592	4	AHR	7	17379003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	641315	17379003	141759660	5878	29380											
SNX13	23161	broad.mit.edu	37	chr7	17836527	17836527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatctctgcatggaacaGcctctgctaaaatgccattt	10	15	6	10	0	2	0	0	0	2	0	3	1	2	1	2	1	5	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:17836527G>T	ENST00000409389.1	-	25	2754	c.2582C>A	c.(2581-2583)gCt>gAt	p.A861D	SNX13_ENST00000496855.1_5'UTR|SNX13_ENST00000428135.3_Missense_Mutation_p.A850D			Q9Y5W8	SNX13_HUMAN	sorting nexin 13	861					cell communication|intracellular protein transport|negative regulation of signal transduction|positive regulation of GTPase activity	early endosome membrane	phosphatidylinositol binding|signal transducer activity			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(13)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(10;0.0261)|all_lung(11;0.0521)					GCATGGAACAGCCTCTGCTAA	0.323													T	17836527	G	T	17836527	3	4	364	1	0	0	0	0	1	0	0	0	14978	971	34	4	332	4	SNX13	7	17836527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	457524	17836527	141302136	5879	29381											
HDAC9	9734	broad.mit.edu	37	chr7	18625144	18625144	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagcttcaggagcatatcaAggtagcaaatgcttctttgt	11	13	9	8	0	4	0	3	0	1	0	4	1	4	1	0	2	4	5	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:18625144A>C	ENST00000406451.4	+	3	413	c.263A>C	c.(262-264)aAg>aCg	p.K88T	HDAC9_ENST00000401921.1_Splice_Site_p.K88T|HDAC9_ENST00000476135.1_3'UTR|HDAC9_ENST00000406072.1_Splice_Site_p.K116T|HDAC9_ENST00000456174.2_Splice_Site_p.K57T|HDAC9_ENST00000524023.1_Splice_Site_p.K57T|HDAC9_ENST00000417496.2_Splice_Site_p.K130T|HDAC9_ENST00000405010.3_Splice_Site_p.K88T|HDAC9_ENST00000428307.2_Splice_Site_p.K88T|HDAC9_ENST00000441542.2_Splice_Site_p.K88T|HDAC9_ENST00000432645.2_Splice_Site_p.K88T	NM_178423.1	NP_848510.1	Q9UKV0	HDAC9_HUMAN	histone deacetylase 9						B cell differentiation|cellular response to insulin stimulus|heart development|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|positive regulation of cell migration involved in sprouting angiogenesis|regulation of skeletal muscle fiber development|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|transcription factor complex	histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein binding|protein kinase C binding|repressing transcription factor binding|transcription corepressor activity			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|liver(2)|lung(37)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	82	all_lung(11;0.187)				Valproic Acid(DB00313)	GAGCATATCAAGGTAGCAAAT	0.502													C	18625144	A	C	18625144	5	2	364	1	0	0	0	0	0	0	1	0	7069	86	3	5	269	5	HDAC9	7	18625144	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	788617	18625144	140513519	5880	29382											
TWISTNB	221830	broad.mit.edu	37	chr7	19737998	19737998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcaaaggtggggtaaattCggcctcttcactgtgttttc	7	16	10	8	1	3	0	2	0	1	0	5	0	3	0	1	4	0	2	1	4	3	6	rs61734275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:19737998C>T	ENST00000222567.5	-	4	1028	c.958G>A	c.(958-960)Gaa>Aaa	p.E320K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	320	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity	p.E320K(1)		kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGGGTAAATTCGGCCTCTTCA	0.368													T	19737998	C	T	19737998	3	4	364	1	0	0	0	0	1	0	0	0	16886	893	31	1	62	1	TWISTNB	7	19737998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1112854	19737998	139400665	5881	29383											
MACC1	346389	broad.mit.edu	37	chr7	20199790	20199790	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagttgattccagaatggaTttgcaactttggaagcatta	13	13	9	6	0	0	2	0	1	0	1	1	4	1	4	1	2	3	3	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20199790T>G	ENST00000400331.5	-	5	502	c.194A>C	c.(193-195)aAt>aCt	p.N65T	MACC1_ENST00000332878.4_Missense_Mutation_p.N65T|MACC1_ENST00000589011.1_Missense_Mutation_p.N65T	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	65					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						CCAGAATGGATTTGCAACTTT	0.378													G	20199790	T	G	20199790	3	3	364	1	0	0	0	0	1	0	0	0	9214	1493	52	5	2376	5	MACC1	7	20199790	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	461792	20199790	138938873	5882	29384											
ITGB8	3696	broad.mit.edu	37	chr7	20403300	20403300	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgcagcatcctgtgcCaggtgccttgcgctgggtcc	6	10	12	13	1	1	0	1	0	0	0	3	0	3	0	4	2	5	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20403300C>A	ENST00000222573.4	+	2	852	c.168C>A	c.(166-168)gcC>gcA	p.A56A	ITGB8_ENST00000537992.1_5'UTR	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8						cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						CATCCTGTGCCAGGTGCCTTG	0.393													A	20403300	C	A	20403300	2	1	364	1	0	0	0	0	0	0	0	1	7959	581	21	4		4	ITGB8	7	20403300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203510	20403300	138735363	5883	29385											
ABCB5	340273	broad.mit.edu	37	chr7	20682994	20682994	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacttaacactcgcatgAcagagtaagaggatgatatt	15	10	10	6	1	0	5	0	3	0	2	1	6	0	6	0	1	2	2	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20682994A>C	ENST00000404938.2	+	6	1154	c.502A>C	c.(502-504)Aca>Cca	p.T168P		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	354	ABC transporter 1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CACTCGCATGACAGAGTAAGA	0.383													C	20682994	A	C	20682994	3	2	364	1	0	0	0	0	1	0	0	0	44	275	10	5	520	5	ABCB5	7	20682994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	279694	20682994	138455669	5884	29386											
ABCB5	340273	broad.mit.edu	37	chr7	20689654	20689654	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattccaatagattctgaaaGgtctgaatctcagaattaag	15	12	7	7	0	3	4	1	2	3	2	5	4	4	4	1	1	0	0	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20689654G>T	ENST00000404938.2	+	12	1868	c.1216G>T	c.(1216-1218)Ggt>Tgt	p.G406C	ABCB5_ENST00000406935.1_5'UTR|ABCB5_ENST00000258738.6_5'UTR|ABCB5_ENST00000443026.2_5'UTR|ABCB5_ENST00000477094.1_3'UTR	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	590	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GATTCTGAAAGGTCTGAATCT	0.393													T	20689654	G	T	20689654	3	4	364	1	0	0	0	0	1	0	0	0	44	1000	35	4	1258	4	ABCB5	7	20689654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6660	20689654	138449009	5885	29387											
ABCB5	340273	broad.mit.edu	37	chr7	20778740	20778740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaccaaatatagacagccGcagtcaagaagggaaaaagc	20	3	10	8	1	1	2	1	0	0	2	1	4	1	3	2	1	3	1	2	1	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20778740G>A	ENST00000404938.2	+	24	3654	c.3002G>A	c.(3001-3003)cGc>cAc	p.R1001H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R556H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	556					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						ATAGACAGCCGCAGTCAAGAA	0.468													A	20778740	G	A	20778740	3	1	364	1	0	0	0	0	1	0	0	0	44	1087	38	1	3133	1	ABCB5	7	20778740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89086	20778740	138359923	5886	29388											
ABCB5	340273	broad.mit.edu	37	chr7	20784923	20784923	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaatagcaatcgttccTcaagagcctgtgctcttcaa	11	11	6	13	1	3	1	2	0	1	1	6	1	5	1	3	0	3	3	3	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20784923T>A	ENST00000404938.2	+	26	3943	c.3291T>A	c.(3289-3291)ccT>ccA	p.P1097P	ABCB5_ENST00000258738.6_Silent_p.P652P	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	652					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CAATCGTTCCTCAAGAGCCTG	0.468													A	20784923	T	A	20784923	2	1	364	1	0	0	0	0	0	0	0	1	44	1538	54	5		5	ABCB5	7	20784923	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6183	20784923	138353740	5887	29389											
SP8	221833	broad.mit.edu	37	chr7	20824833	20824833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaccacgactcgtacggGtgcgccatgcccacccgcgg	8	6	11	16	6	0	0	0	0	0	0	1	1	0	0	4	2	4	1	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:20824833G>A	ENST00000361443.4	-	3	786	c.549C>T	c.(547-549)caC>caT	p.H183H	SP8_ENST00000418710.2_Silent_p.H201H	NM_198956.2	NP_945194.1	Q8IXZ3	SP8_HUMAN	Sp8 transcription factor	183					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	8						ACTCGTACGGGTGCGCCATGC	0.716													A	20824833	G	A	20824833	2	1	364	1	0	0	0	0	0	0	0	1	15064	1252	44	2		2	SP8	7	20824833	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39910	20824833	138313830	5888	29390											
SP4	6671	broad.mit.edu	37	chr7	21470442	21470442	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtgcagggagttcccgtTacaatcactagtgttgcagg	10	10	12	9	1	1	0	1	0	0	0	2	1	2	1	1	2	3	5	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21470442T>C	ENST00000222584.3	+	3	1877	c.1659T>C	c.(1657-1659)gtT>gtC	p.V553V		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	553					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						GAGTTCCCGTTACAATCACTA	0.408													C	21470442	T	C	21470442	2	2	364	1	0	0	0	0	0	0	0	1	15060	1741	61	3		3	SP4	7	21470442	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	645609	21470442	137668221	5889	29391											
SP4	6671	broad.mit.edu	37	chr7	21516748	21516748	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaagctactatagctcCtgtaactgtagcagttggag	11	10	10	10	0	0	0	0	0	0	0	1	1	1	1	2	1	6	7	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21516748C>A	ENST00000222584.3	+	4	1948	c.1730C>A	c.(1729-1731)cCt>cAt	p.P577H		NM_003112.3	NP_003103.2	Q02446	SP4_HUMAN	Sp4 transcription factor	577					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						ACTATAGCTCCTGTAACTGTA	0.423													A	21516748	C	A	21516748	3	1	364	1	0	0	0	0	1	0	0	0	15060	681	24	4	1744	4	SP4	7	21516748	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46306	21516748	137621915	5890	29392											
DNAH11	8701	broad.mit.edu	37	chr7	21599273	21599273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattgaatctgtggttattGaatggtcacatcaaatccaa	14	13	7	7	0	3	2	2	2	1	0	4	2	4	2	1	2	0	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21599273G>A	ENST00000328843.6	+	4	776	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	DNAH11_ENST00000409508.3_Missense_Mutation_p.E249K			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	249	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGTGGTTATTGAATGGTCACA	0.338									Kartagener syndrome				A	21599273	G	A	21599273	3	1	364	1	0	0	0	0	1	0	0	0	4638	1291	45	2	759	2	DNAH11	7	21599273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82525	21599273	137539390	5891	29393											
DNAH11	8701	broad.mit.edu	37	chr7	21631042	21631042	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaacgtgaaggtgatccaGcagaccatgaggggctgggc	13	5	15	8	1	0	4	0	3	0	1	1	4	1	4	2	4	2	2	2	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21631042G>T	ENST00000328843.6	+	14	2545	c.2514G>T	c.(2512-2514)caG>caT	p.Q838H	DNAH11_ENST00000409508.3_Missense_Mutation_p.Q838H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	838	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGTGATCCAGCAGACCATGA	0.582									Kartagener syndrome				T	21631042	G	T	21631042	3	4	364	1	0	0	0	0	1	0	0	0	4638	962	34	4	2568	4	DNAH11	7	21631042	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31769	21631042	137507621	5892	29394											
DNAH11	8701	broad.mit.edu	37	chr7	21654888	21654888	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggatgtcattatttatgttCgagtaagatgtgctttttca	9	18	10	4	1	2	1	2	0	0	1	3	3	2	2	0	1	1	3	0	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21654888C>T	ENST00000328843.6	+	21	4040	c.4009C>T	c.(4009-4011)Cga>Tga	p.R1337*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R1337*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1337	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TATTTATGTTCGAGTAAGATG	0.333									Kartagener syndrome				T	21654888	C	T	21654888	4	4	364	1	0	0	0	0	0	1	0	0	4638	876	31	1	4091	1	DNAH11	7	21654888	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23846	21654888	137483775	5893	29395											
DNAH11	8701	broad.mit.edu	37	chr7	21730484	21730484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgaattaccggaaaatcTcaaagctcttttcaggcaag	15	9	7	10	2	3	0	2	0	2	0	4	2	3	1	2	2	3	2	2	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21730484T>C	ENST00000328843.6	+	36	6078	c.6047T>C	c.(6046-6048)cTc>cCc	p.L2016P	DNAH11_ENST00000409508.3_Missense_Mutation_p.L2009P			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2016	AAA 1 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCGGAAAATCTCAAAGCTCTT	0.418									Kartagener syndrome				C	21730484	T	C	21730484	3	2	364	1	0	0	0	0	1	0	0	0	4638	1551	54	3	6186	3	DNAH11	7	21730484	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75596	21730484	137408179	5894	29396											
DNAH11	8701	broad.mit.edu	37	chr7	21789968	21789968	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattctttatggccagggtgCgactacagctcaaagtaaga	13	10	10	8	1	2	1	1	0	1	1	2	2	2	1	1	2	3	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21789968C>T	ENST00000328843.6	+	55	8978	c.8947C>T	c.(8947-8949)Cga>Tga	p.R2983*	DNAH11_ENST00000409508.3_Nonsense_Mutation_p.R2976*			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2983	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GGCCAGGGTGCGACTACAGCT	0.373									Kartagener syndrome				T	21789968	C	T	21789968	4	4	364	1	0	0	0	0	0	1	0	0	4638	760	27	1	9162	1	DNAH11	7	21789968	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59484	21789968	137348695	5895	29397											
CDCA7L	55536	broad.mit.edu	37	chr7	21946038	21946038	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatacgccgcgtgatctGtccctccgagaaggcccgcc	6	8	11	16	5	2	2	1	1	1	1	4	3	4	2	5	1	1	1	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:21946038G>A	ENST00000406877.3	-	6	1069	c.790C>T	c.(790-792)Cag>Tag	p.Q264*	CDCA7L_ENST00000373934.4_Nonsense_Mutation_p.Q218*|CDCA7L_ENST00000356195.5_Nonsense_Mutation_p.Q230*|CDCA7L_ENST00000465490.1_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	264					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CGCGTGATCTGTCCCTCCGAG	0.542													A	21946038	G	A	21946038	4	1	364	1	0	0	0	0	0	1	0	0	3121	1386	48	2	594	2	CDCA7L	7	21946038	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156070	21946038	137192625	5896	29398											
KLHL7	55975	broad.mit.edu	37	chr7	23205476	23205476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatagctggtattcgaaaCtgggtcctccgacacctcga	10	9	11	11	3	0	0	0	0	0	0	4	4	2	1	3	3	2	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23205476C>T	ENST00000339077.5	+	8	1339	c.1096C>T	c.(1096-1098)Ctg>Ttg	p.L366L	KLHL7_ENST00000539124.1_Silent_p.L290L|KLHL7_ENST00000545443.1_Silent_p.L344L|KLHL7_ENST00000409689.1_Silent_p.L318L|KLHL7_ENST00000322231.7_Silent_p.L344L|KLHL7_ENST00000542558.1_Silent_p.L141L	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTATTCGAAACTGGGTCCTCC	0.438													T	23205476	C	T	23205476	2	4	364	1	0	0	0	0	0	0	0	1	8452	564	20	2		2	KLHL7	7	23205476	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1259438	23205476	135933187	5897	29399											
NUPL2	11097	broad.mit.edu	37	chr7	23240207	23240207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagcagcatatccacttCtctgtcagcctcaagcagca	13	9	6	13	0	3	0	2	0	1	0	5	0	4	0	2	0	5	4	2	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23240207C>A	ENST00000258742.5	+	7	1374	c.1115C>A	c.(1114-1116)tCt>tAt	p.S372Y		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	372	Interaction with GLE1.|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATATCCACTTCTCTGTCAGCC	0.428													A	23240207	C	A	23240207	3	1	364	1	0	0	0	0	1	0	0	0	10851	913	32	4	1141	4	NUPL2	7	23240207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34731	23240207	135898456	5898	29400											
GPNMB	10457	broad.mit.edu	37	chr7	23299713	23299713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagaagacatggacgggCatatgttcccatcgcacaag	13	7	10	11	2	0	2	0	0	0	2	2	3	1	3	1	2	1	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23299713C>T	ENST00000258733.4	+	5	951	c.656C>T	c.(655-657)gCa>gTa	p.A219V	GPNMB_ENST00000453162.2_Missense_Mutation_p.A161V|GPNMB_ENST00000539136.1_Missense_Mutation_p.A120V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A219V			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	219					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CATGGACGGGCATATGTTCCC	0.468													T	23299713	C	T	23299713	3	4	364	1	0	0	0	0	1	0	0	0	6674	710	25	2	674	2	GPNMB	7	23299713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59506	23299713	135838950	5899	29401											
GPNMB	10457	broad.mit.edu	37	chr7	23306199	23306199	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactgccagattaacaGatatggccactttcaagcca	15	9	7	10	0	1	3	1	1	0	2	1	3	1	3	3	1	4	0	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23306199G>T	ENST00000258733.4	+	7	1377	c.1082G>T	c.(1081-1083)aGa>aTa	p.R361I	GPNMB_ENST00000453162.2_Missense_Mutation_p.R315I|GPNMB_ENST00000539136.1_Missense_Mutation_p.R262I|GPNMB_ENST00000381990.2_Missense_Mutation_p.R373I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	373					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CAGATTAACAGATATGGCCAC	0.478													T	23306199	G	T	23306199	3	4	364	1	0	0	0	0	1	0	0	0	6674	942	33	4	1144	4	GPNMB	7	23306199	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6486	23306199	135832464	5900	29402											
GPNMB	10457	broad.mit.edu	37	chr7	23309606	23309606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattcccacggaggtctgtaCcatcatttctgaccccacct	8	11	6	16	1	3	1	1	1	2	0	4	2	4	2	5	2	1	1	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23309606C>T	ENST00000258733.4	+	9	1536	c.1241C>T	c.(1240-1242)aCc>aTc	p.T414I	GPNMB_ENST00000453162.2_Missense_Mutation_p.T368I|GPNMB_ENST00000539136.1_Missense_Mutation_p.T315I|GPNMB_ENST00000381990.2_Missense_Mutation_p.T426I			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	426					negative regulation of cell proliferation	melanosome				breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			GAGGTCTGTACCATCATTTCT	0.557													T	23309606	C	T	23309606	3	4	364	1	0	0	0	0	1	0	0	0	6674	507	18	2	1311	2	GPNMB	7	23309606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3407	23309606	135829057	5901	29403											
TRA2A	29896	broad.mit.edu	37	chr7	23545428	23545428	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataataaggagaaggtgatcGtcttctgtaagaaatgaaag	17	10	11	3	1	2	4	0	2	2	2	3	5	2	4	0	2	0	1	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545428G>A	ENST00000297071.4	-	7	991	c.775C>T	c.(775-777)Cga>Tga	p.R259*	TRA2A_ENST00000538367.1_Nonsense_Mutation_p.R158*|TRA2A_ENST00000392502.4_Splice_Site_p.R157*	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	259	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						GAAGGTGATCGTCTTCTGTAA	0.333													A	23545428	G	A	23545428	4	1	364	1	0	0	0	0	0	1	0	0	16534	1153	40	1	81	1	TRA2A	7	23545428	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235822	23545428	135593235	5902	29404											
TRA2A	29896	broad.mit.edu	37	chr7	23545848	23545848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgccaccacctccacCtccaccgccgccgcctcctc	5	6	5	25	4	1	0	0	0	1	0	5	0	4	0	11	0	1	0	11	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23545848C>A	ENST00000297071.4	-	6	895	c.679G>T	c.(679-681)Ggt>Tgt	p.G227C	TRA2A_ENST00000538367.1_Missense_Mutation_p.G126C|TRA2A_ENST00000392502.4_Missense_Mutation_p.G126C	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	227	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						ccacctccacctccaccgccg	0.448													A	23545848	C	A	23545848	3	1	364	1	0	0	0	0	1	0	0	0	16534	681	24	4	181	4	TRA2A	7	23545848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	420	23545848	135592815	5903	29405											
TRA2A	29896	broad.mit.edu	37	chr7	23547109	23547109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttatagaataatccacccGaattcttctaccatccagct	12	12	5	12	1	2	1	0	0	2	1	4	2	4	1	4	1	2	2	4	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23547109G>A	ENST00000297071.4	-	5	787	c.571C>T	c.(571-573)Cgg>Tgg	p.R191W	TRA2A_ENST00000474586.1_5'UTR|TRA2A_ENST00000538367.1_Missense_Mutation_p.R90W|TRA2A_ENST00000392502.4_Missense_Mutation_p.R90W	NM_013293.3	NP_037425.1	Q13595	TRA2A_HUMAN	transformer 2 alpha homolog (Drosophila)	191	RRM.				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|RNA binding			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	10						TAATCCACCCGAATTCTTCTA	0.423													A	23547109	G	A	23547109	3	1	364	1	0	0	0	0	1	0	0	0	16534	1057	37	1	293	1	TRA2A	7	23547109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1261	23547109	135591554	5904	29406											
STK31	56164	broad.mit.edu	37	chr7	23768859	23768859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgatcaagaagttacccaGtttgatcaggcaagtcacgt	12	11	9	9	1	4	3	3	2	1	1	4	3	4	3	1	1	1	3	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23768859G>T	ENST00000354639.3	+	6	869	c.405G>T	c.(403-405)caG>caT	p.Q135H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.Q158H|STK31_ENST00000428484.1_Missense_Mutation_p.Q135H|STK31_ENST00000433467.2_Missense_Mutation_p.Q158H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	158	Tudor.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AAGTTACCCAGTTTGATCAGG	0.318													T	23768859	G	T	23768859	3	4	364	1	0	0	0	0	1	0	0	0	15392	1020	36	4	496	4	STK31	7	23768859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221750	23768859	135369804	5905	29407											
STK31	56164	broad.mit.edu	37	chr7	23775374	23775374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtcaacttgttctcaGgaacctcaaaagccccattc	10	11	6	14	0	3	0	3	0	1	0	6	1	4	1	4	2	3	1	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23775374G>T	ENST00000354639.3	+	7	1096	c.632G>T	c.(631-633)aGg>aTg	p.R211M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.R234M|STK31_ENST00000428484.1_Missense_Mutation_p.R211M|STK31_ENST00000433467.2_Missense_Mutation_p.R234M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	234							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTGTTCTCAGGAACCTCAAA	0.453													T	23775374	G	T	23775374	3	4	364	1	0	0	0	0	1	0	0	0	15392	1000	35	4	727	4	STK31	7	23775374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6515	23775374	135363289	5906	29408											
STK31	56164	broad.mit.edu	37	chr7	23808768	23808768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcttctctgcaccgtcttgTagcatggttccaaagaacct	8	12	8	13	2	2	1	0	0	2	1	4	1	3	1	3	1	3	5	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23808768T>C	ENST00000354639.3	+	12	1966	c.1502T>C	c.(1501-1503)gTa>gCa	p.V501A	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.V524A|STK31_ENST00000428484.1_Missense_Mutation_p.V501A|STK31_ENST00000433467.2_Missense_Mutation_p.V524A	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	524							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CACCGTCTTGTAGCATGGTTC	0.378													C	23808768	T	C	23808768	3	2	364	1	0	0	0	0	1	0	0	0	15392	1638	57	3	1617	3	STK31	7	23808768	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33394	23808768	135329895	5907	29409											
STK31	56164	broad.mit.edu	37	chr7	23809314	23809314	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagacgcaatggataataTtgatgaaatcctagagaaga	19	8	10	4	1	0	6	0	2	0	4	1	8	1	7	1	1	0	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23809314T>C	ENST00000354639.3	+	13	2047	c.1583T>C	c.(1582-1584)aTt>aCt	p.I528T	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.I551T|STK31_ENST00000428484.1_Missense_Mutation_p.I528T|STK31_ENST00000433467.2_Missense_Mutation_p.I551T	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	551							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATGGATAATATTGATGAAATC	0.358													C	23809314	T	C	23809314	3	2	364	1	0	0	0	0	1	0	0	0	15392	1493	52	3	1702	3	STK31	7	23809314	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	546	23809314	135329349	5908	29410											
STK31	56164	broad.mit.edu	37	chr7	23810623	23810623	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgtgtgatttcatttaGgatcaaggtgatgcagacaa	12	14	11	4	0	2	3	2	2	0	1	2	4	2	4	0	2	1	1	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23810623G>T	ENST00000354639.3	+	14	2108		c.e14-1		STK31_ENST00000405627.3_Splice_Site|STK31_ENST00000355870.3_Splice_Site|STK31_ENST00000428484.1_Splice_Site|STK31_ENST00000433467.2_Splice_Site	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31								ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						ATTTCATTTAGGATCAAGGTG	0.343													T	23810623	G	T	23810623	5	4	364	1	0	0	0	0	0	0	1	0	15392	1014	35	4	1767	4	STK31	7	23810623	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309	23810623	135328040	5909	29411											
STK31	56164	broad.mit.edu	37	chr7	23830448	23830448	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgtttttgcagagtcaGcgagcctcggtgaacatgat	10	13	11	7	2	1	3	1	2	0	1	2	4	1	3	1	1	4	2	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:23830448G>T	ENST00000354639.3	+	22	3038	c.2574G>T	c.(2572-2574)caG>caT	p.Q858H	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.Q881H|STK31_ENST00000428484.1_Missense_Mutation_p.Q858H|STK31_ENST00000433467.2_Missense_Mutation_p.Q881H	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	881	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCAGAGTCAGCGAGCCTCGG	0.378													T	23830448	G	T	23830448	3	4	364	1	0	0	0	0	1	0	0	0	15392	962	34	4	2729	4	STK31	7	23830448	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19825	23830448	135308215	5910	29412											
NPY	4852	broad.mit.edu	37	chr7	24324914	24324914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaccctcgccctgtccctgCtcgtgtgcctgggtgcgctg	1	11	13	16	3	0	1	0	1	0	0	3	1	1	1	4	1	3	2	4	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24324914C>T	ENST00000407573.1	+	3	345	c.55C>T	c.(55-57)Ctc>Ttc	p.L19F	NPY_ENST00000242152.2_Missense_Mutation_p.L19F|NPY_ENST00000405982.1_Missense_Mutation_p.L19F			P01303	NPY_HUMAN	neuropeptide Y	19					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CCTGTCCCTGCTCGTGTGCCT	0.657													T	24324914	C	T	24324914	3	4	364	1	0	0	0	0	1	0	0	0	10683	797	28	2	57	2	NPY	7	24324914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494466	24324914	134813749	5911	29413											
MPP6	51678	broad.mit.edu	37	chr7	24727059	24727059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaactcttcaacaggaCtctgacttgaagaaaacagt	16	11	6	8	0	3	3	1	2	2	1	3	4	3	4	0	1	3	0	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24727059C>T	ENST00000222644.5	+	12	1699	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	MPP6_ENST00000396475.2_Silent_p.D483D|MPP6_ENST00000409761.1_Silent_p.D371D			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTCAACAGGACTCTGACTTGA	0.318													T	24727059	C	T	24727059	2	4	364	1	0	0	0	0	0	0	0	1	9814	564	20	2		2	MPP6	7	24727059	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	402145	24727059	134411604	5912	29414											
DFNA5	1687	broad.mit.edu	37	chr7	24749948	24749948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggggtccaggtagaCagagtcaattctcttcttgt	9	11	12	9	0	3	2	1	0	2	2	5	3	4	2	2	3	0	1	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24749948C>T	ENST00000545231.1	-	8	1415	c.265G>A	c.(265-267)Gtc>Atc	p.V89I	DFNA5_ENST00000419307.1_Missense_Mutation_p.V89I|DFNA5_ENST00000342947.3_Missense_Mutation_p.V253I|DFNA5_ENST00000559637.1_5'UTR|DFNA5_ENST00000409970.1_Missense_Mutation_p.V89I|DFNA5_ENST00000409775.3_Missense_Mutation_p.V253I			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	253					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TCCAGGTAGACAGAGTCAATT	0.468													T	24749948	C	T	24749948	3	4	364	1	0	0	0	0	1	0	0	0	4493	478	17	2	753	2	DFNA5	7	24749948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22889	24749948	134388715	5913	29415											
OSBPL3	26031	broad.mit.edu	37	chr7	24839811	24839811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctttactttttcaccataaGacaggatggtccagtttgga	10	15	8	8	0	2	1	1	0	1	1	3	3	3	3	2	3	1	1	2	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:24839811G>A	ENST00000313367.2	-	23	3106	c.2655C>T	c.(2653-2655)gtC>gtT	p.V885V	OSBPL3_ENST00000409069.1_Silent_p.V818V|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000431825.2_Silent_p.V818V|OSBPL3_ENST00000353930.1_Silent_p.V849V|OSBPL3_ENST00000396429.1_Silent_p.V849V|OSBPL3_ENST00000396431.1_Silent_p.V854V|OSBPL3_ENST00000352860.1_Silent_p.V854V	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	885					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						TTCACCATAAGACAGGATGGT	0.383													A	24839811	G	A	24839811	2	1	364	1	0	0	0	0	0	0	0	1	11355	929	33	2		2	OSBPL3	7	24839811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89863	24839811	134298852	5914	29416											
CYCS	54205	broad.mit.edu	37	chr7	25163588	25163588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgttcttattggcggCtgtgtaagagtatccagggg	7	14	13	7	1	1	1	0	0	1	1	2	1	2	1	2	4	0	4	2	4	3	6	rs11548772		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25163588C>T	ENST00000305786.2	-	2	320	c.151G>A	c.(151-153)Gcc>Acc	p.A51T	CYCS_ENST00000409409.1_Missense_Mutation_p.A51T|CYCS_ENST00000409764.1_Missense_Mutation_p.A51T	NM_018947.5	NP_061820.1	P99999	CYC_HUMAN	cytochrome c, somatic	51					activation of caspase activity by cytochrome c|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis by intracellular signals|respiratory electron transport chain|transport	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|mitochondrial matrix|nucleus|protein phosphatase type 2A complex|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding|protein binding			endometrium(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	4					Melatonin(DB01065)|Minocycline(DB01017)	TTATTGGCGGCTGTGTAAGAG	0.458													T	25163588	C	T	25163588	3	4	364	1	0	0	0	0	1	0	0	0	4169	797	28	2	174	2	CYCS	7	25163588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323777	25163588	133975075	5915	29417											
C7orf31	136895	broad.mit.edu	37	chr7	25176355	25176355	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcggttctgaattaatcGggcaattcgtccttccaacg	9	12	9	11	5	1	1	0	1	1	0	6	1	3	1	2	2	1	2	2	2	4	4	rs146941527	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:25176355G>A	ENST00000409280.1	-	10	1317	c.1009C>T	c.(1009-1011)Cga>Tga	p.R337*	C7orf31_ENST00000283905.3_Nonsense_Mutation_p.R337*			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	337										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						TGAATTAATCGGGCAATTCGT	0.428													A	25176355	G	A	25176355	4	1	364	1	0	0	0	0	0	1	0	0	2411	1124	39	1	767	1	C7orf31	7	25176355	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12767	25176355	133962308	5916	29418											
NFE2L3	9603	broad.mit.edu	37	chr7	26224454	26224454	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatctaacaagccaagAcctactgtatgaccttgaca	15	8	8	10	0	1	3	0	2	1	1	1	5	1	4	3	1	3	1	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:26224454A>G	ENST00000056233.3	+	4	1395	c.1136A>G	c.(1135-1137)gAc>gGc	p.D379G		NM_004289.6	NP_004280.5	Q9Y4A8	NF2L3_HUMAN	nuclear factor, erythroid 2-like 3	379					transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|skin(5)|urinary_tract(7)	29						ACAAGCCAAGACCTACTGTAT	0.373													G	26224454	A	G	26224454	3	3	364	1	0	0	0	0	1	0	0	0	10445	275	10	3	1150	3	NFE2L3	7	26224454	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1048099	26224454	132914209	5917	29419											
HOXA1	3198	broad.mit.edu	37	chr7	27134370	27134370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggtagtgaagttggtgcGcaccgcgttgggttgaccca	6	11	15	9	3	0	2	0	2	0	0	0	2	0	2	2	3	1	5	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27134370G>A	ENST00000343060.4	-	2	758	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C	HOXA1_ENST00000355633.5_3'UTR	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	233						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R233C(2)		endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTGGTGCGCACCGCGTTG	0.537													A	27134370	G	A	27134370	3	1	364	1	0	0	0	0	1	0	0	0	7343	1087	38	1	314	1	HOXA1	7	27134370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	909916	27134370	132004293	5918	29420											
HOXA2	3199	broad.mit.edu	37	chr7	27140382	27140382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtcgattgtggtgagtGtgtctgtaaaaaagtctaag	12	12	13	4	1	2	1	0	1	2	0	3	2	2	1	0	1	0	2	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27140382G>A	ENST00000222718.5	-	2	1404	c.1094C>T	c.(1093-1095)aCa>aTa	p.T365I		NM_006735.3	NP_006726.1	O43364	HXA2_HUMAN	homeobox A2	365						nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|cervix(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	22						TGTGGTGAGTGTGTCTGTAAA	0.433													A	27140382	G	A	27140382	3	1	364	1	0	0	0	0	1	0	0	0	7347	1377	48	2	40	2	HOXA2	7	27140382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6012	27140382	131998281	5919	29421											
HOXA3	3200	broad.mit.edu	37	chr7	27149775	27149775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgctttgtgttttgtcgaGactctttcatccaggggaag	6	16	11	8	1	3	1	1	0	2	1	5	3	4	2	1	2	1	2	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27149775G>A	ENST00000396352.4	-	2	684	c.485C>T	c.(484-486)tCt>tTt	p.S162F	HOXA-AS2_ENST00000518088.1_RNA|HOXA3_ENST00000317201.2_Missense_Mutation_p.S162F	NM_030661.4	NP_109377.1	O43365	HXA3_HUMAN	homeobox A3	162					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(18)|skin(1)	29						GTTTTGTCGAGACTCTTTCAT	0.562													A	27149775	G	A	27149775	3	1	364	1	0	0	0	0	1	0	0	0	7348	942	33	2	854	2	HOXA3	7	27149775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9393	27149775	131988888	5920	29422											
HOXA7	3204	broad.mit.edu	37	chr7	27194841	27194841	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccccgcttcctgtcaggtCctgagaacagacatgcagac	9	7	11	14	1	1	3	1	1	0	3	3	4	3	3	4	2	2	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27194841C>T	ENST00000242159.3	-	2	513	c.380G>A	c.(379-381)gGa>gAa	p.G127E	HOXA7_ENST00000523796.2_5'UTR|HOXA-AS3_ENST00000518947.2_RNA	NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	127					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						CCTGTCAGGTCCTGAGAACAG	0.617													T	27194841	C	T	27194841	5	4	364	1	0	0	0	0	0	0	1	0	7352	869	30	2	316	2	HOXA7	7	27194841	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45066	27194841	131943822	5921	29423											
HOXA9	3205	broad.mit.edu	37	chr7	27203268	27203268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttcttcattttcatcCtgcggttctggaaccagatc	7	17	7	10	1	4	2	2	1	2	1	6	3	5	3	2	2	2	1	2	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203268C>A	ENST00000343483.6	-	2	845	c.773G>T	c.(772-774)aGg>aTg	p.R258M	RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.R98M|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	258							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CATTTTCATCCTGCGGTTCTG	0.463			T	"NUP98, MSI2"	AML*								A	27203268	C	A	27203268	3	1	364	1	0	0	0	0	1	0	0	0	7353	681	24	4	49	4	HOXA9	7	27203268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8427	27203268	131935395	5922	29424											
HOXA9	3205	broad.mit.edu	37	chr7	27203390	27203390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctccagttccagggtCtggtgttttgtataggggca	5	16	12	8	0	3	0	0	0	3	0	5	0	4	0	2	4	0	4	2	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27203390C>A	ENST00000343483.6	-	2	723	c.651G>T	c.(649-651)caG>caT	p.Q217H	RP1-170O19.20_ENST00000465941.1_5'UTR|RP1-170O19.20_ENST00000470747.4_Missense_Mutation_p.Q57H|HOXA9_ENST00000497089.1_5'UTR|HOXA9_ENST00000396345.1_3'UTR	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	217							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						GTTCCAGGGTCTGGTGTTTTG	0.552			T	"NUP98, MSI2"	AML*								A	27203390	C	A	27203390	3	1	364	1	0	0	0	0	1	0	0	0	7353	912	32	4	171	4	HOXA9	7	27203390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122	27203390	131935273	5923	29425											
HIBADH	11112	broad.mit.edu	37	chr7	27565877	27565877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaactggaacacggatgagaAgtctttctttgagtagccct	11	11	11	8	1	2	2	0	2	2	1	2	6	2	4	1	2	3	1	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27565877A>T	ENST00000265395.2	-	8	1173	c.967T>A	c.(967-969)Ttc>Atc	p.F323I		NM_152740.3	NP_689953.1	P31937	3HIDH_HUMAN	3-hydroxyisobutyrate dehydrogenase	323					branched chain family amino acid catabolic process|pentose-phosphate shunt|valine metabolic process	mitochondrial matrix	3-hydroxyisobutyrate dehydrogenase activity|NAD binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(4)|kidney(2)|lung(3)|ovary(2)|prostate(1)	12			GBM - Glioblastoma multiforme(3;0.0368)		NADH(DB00157)	ACGGATGAGAAGTCTTTCTTT	0.517													T	27565877	A	T	27565877	3	4	364	1	0	0	0	0	1	0	0	0	7154	72	3	5	47	5	HIBADH	7	27565877	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	362487	27565877	131572786	5924	29426											
TAX1BP1	8887	broad.mit.edu	37	chr7	27788186	27788186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcagacttccaactttGcccatgtcatctttcaaaat	11	14	4	12	0	3	1	2	0	1	1	4	1	4	1	2	0	3	1	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27788186G>A	ENST00000396319.2	+	2	131	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	TAX1BP1_ENST00000433216.2_5'UTR|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.A15T|TAX1BP1_ENST00000265393.6_Missense_Mutation_p.A15T|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.A15T	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	15					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TTCCAACTTTGCCCATGTCAT	0.358													A	27788186	G	A	27788186	3	1	364	1	0	0	0	0	1	0	0	0	15691	1319	46	2	45	2	TAX1BP1	7	27788186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222309	27788186	131350477	5925	29427											
TAX1BP1	8887	broad.mit.edu	37	chr7	27831736	27831736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagtgatgctgtcaacgtaCgagacagaacgatggcagac	13	7	12	9	3	2	4	2	1	0	3	2	6	2	4	0	1	4	3	0	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:27831736C>T	ENST00000396319.2	+	9	1238	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	TAX1BP1_ENST00000433216.2_Nonsense_Mutation_p.R227*|TAX1BP1_ENST00000409980.1_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000265393.6_Nonsense_Mutation_p.R384*|TAX1BP1_ENST00000543117.1_Nonsense_Mutation_p.R384*	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	384	Oligomerization.				anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			TGTCAACGTACGAGACAGAAC	0.438													T	27831736	C	T	27831736	4	4	364	1	0	0	0	0	0	1	0	0	15691	528	19	1	1180	1	TAX1BP1	7	27831736	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43550	27831736	131306927	5926	29428											
CHN2	1124	broad.mit.edu	37	chr7	29552185	29552185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtttgttttgcagggttaCtatgaatgaaaaagacaatt	14	15	9	3	0	0	3	0	2	0	1	0	3	0	3	0	1	2	4	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29552185C>T	ENST00000222792.6	+	13	1771	c.1241C>T	c.(1240-1242)aCt>aTt	p.T414I	CHN2_ENST00000421775.2_Missense_Mutation_p.T220I|CHN2_ENST00000435288.2_Missense_Mutation_p.T138I|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Missense_Mutation_p.T232I|CHN2_ENST00000409041.4_Missense_Mutation_p.T278I|CHN2_ENST00000539406.1_Missense_Mutation_p.T489I|CHN2_ENST00000424025.2_Missense_Mutation_p.T233I|CHN2_ENST00000539389.1_Missense_Mutation_p.T270I|CHN2_ENST00000546235.1_Missense_Mutation_p.T399I|CHN2_ENST00000495789.2_Missense_Mutation_p.T427I	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	414	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TGCAGGGTTACTATGAATGAA	0.423													T	29552185	C	T	29552185	3	4	364	1	0	0	0	0	1	0	0	0	3393	565	20	2	1459	2	CHN2	7	29552185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1720449	29552185	129586478	5927	29429											
WIPF3	644150	broad.mit.edu	37	chr7	29915574	29915574	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccgcagtgccccgcagatCgagagtaagtgagcagccgg	10	4	15	12	4	0	3	0	1	0	2	1	5	0	3	4	1	3	4	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:29915574C>T	ENST00000409290.1	+	2	219	c.219C>T	c.(217-219)atC>atT	p.I73I	WIPF3_ENST00000242140.5_Silent_p.I73I|WIPF3_ENST00000409123.1_Silent_p.I73I	NM_001080529.2	NP_001073998.2	B8ZZV2	B8ZZV2_HUMAN	WAS/WASL interacting protein family, member 3	73										breast(2)|large_intestine(3)|lung(6)|ovary(1)	12						CCCCGCAGATCGAGAGTAAGT	0.627													T	29915574	C	T	29915574	2	4	364	1	0	0	0	0	0	0	0	1	17471	874	31	1		1	WIPF3	7	29915574	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	363389	29915574	129223089	5928	29430											
FKBP14	55033	broad.mit.edu	37	chr7	30054474	30054474	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcattcaccaccgcaccAtgtttttcaaactccttctt	8	16	2	15	1	4	0	3	0	1	0	5	0	5	0	4	0	1	2	4	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30054474A>G	ENST00000222803.5	-	4	688	c.513T>C	c.(511-513)caT>caC	p.H171H	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	171					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						CCACCGCACCATGTTTTTCAA	0.338													G	30054474	A	G	30054474	2	3	364	1	0	0	0	0	0	0	0	1	5953	214	8	3		3	FKBP14	7	30054474	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	138900	30054474	129084189	5929	29431											
FKBP14	55033	broad.mit.edu	37	chr7	30058726	30058726	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatatcagtgtactttcTgggggaattttacctgacgt	10	16	9	6	1	2	1	1	1	1	0	2	2	2	2	1	2	2	1	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30058726T>C	ENST00000222803.5	-	3	538	c.363A>G	c.(361-363)ccA>ccG	p.P121P	AC007285.6_ENST00000419103.1_RNA|AC007285.6_ENST00000422239.1_RNA	NM_017946.3	NP_060416.1	Q9NWM8	FKB14_HUMAN	FK506 binding protein 14, 22 kDa	121	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|large_intestine(2)|lung(2)	5						GTGTACTTTCTGGGGGAATTT	0.333													C	30058726	T	C	30058726	2	2	364	1	0	0	0	0	0	0	0	1	5953	1567	55	3		3	FKBP14	7	30058726	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4252	30058726	129079937	5930	29432											
ZNRF2	223082	broad.mit.edu	37	chr7	30363339	30363339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgtttaacaaagccacGaataacctataatggtaagt	17	11	7	6	1	0	0	0	0	0	0	0	1	0	0	2	1	3	2	2	1	8	6	rs142290977		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30363339G>A	ENST00000323037.4	+	2	1602	c.551G>A	c.(550-552)cGa>cAa	p.R184Q		NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2	184						cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding	p.R184L(1)		breast(1)|endometrium(1)|lung(2)|prostate(1)	5						ACAAAGCCACGAATAACCTAT	0.269													A	30363339	G	A	30363339	3	1	364	1	0	0	0	0	1	0	0	0	18311	1058	37	1	557	1	ZNRF2	7	30363339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	304613	30363339	128775324	5931	29433											
ZNRF2	223082	broad.mit.edu	37	chr7	30402073	30402073	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcagcttcctgttttatagGtaattttttttgtaattact	8	22	6	5	0	1	0	1	0	0	0	2	0	2	0	1	1	2	4	1	1	5	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30402073G>A	ENST00000323037.4	+	4	1802		c.e4+1			NM_147128.3	NP_667339.1	Q8NHG8	ZNRF2_HUMAN	zinc and ring finger 2							cell junction|endosome membrane|lysosomal membrane|presynaptic membrane	ligase activity|zinc ion binding			breast(1)|endometrium(1)|lung(2)|prostate(1)	5						TGTTTTATAGGTAATTTTTTT	0.328													A	30402073	G	A	30402073	5	1	364	1	0	0	0	0	0	0	1	0	18311	1275	44	2		2	ZNRF2	7	30402073	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38734	30402073	128736590	5932	29434											
NOD1	10392	broad.mit.edu	37	chr7	30491398	30491398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcagggggcatccactcCtggaagaacctgagcagctc	9	5	12	15	1	0	2	0	1	0	1	3	3	2	3	4	3	3	4	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30491398C>A	ENST00000222823.4	-	6	2160	c.1635G>T	c.(1633-1635)caG>caT	p.Q545H		NM_006092.2	NP_006083.1	Q9Y239	NOD1_HUMAN	nucleotide-binding oligomerization domain containing 1	545					activation of MAPK activity|detection of bacterium|induction of apoptosis|inflammatory response|innate immune response|interleukin-8 biosynthetic process|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of dendritic cell antigen processing and presentation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protein oligomerization|stress-activated MAPK cascade|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	basolateral plasma membrane|cytosol	ATP binding|CARD domain binding|caspase activator activity|peptidoglycan binding|protein homodimerization activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|skin(2)	39						GCATCCACTCCTGGAAGAACC	0.627													A	30491398	C	A	30491398	3	1	364	1	0	0	0	0	1	0	0	0	10592	680	24	4	1262	4	NOD1	7	30491398	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89325	30491398	128647265	5933	29435											
GARS	2617	broad.mit.edu	37	chr7	30668232	30668232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggcctgggtaggatcatgTatacggtatttgaacataca	11	12	11	7	2	1	1	1	1	0	0	2	2	1	2	1	4	3	3	1	4	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30668232T>C	ENST00000389266.3	+	14	1997	c.1756T>C	c.(1756-1758)Tat>Cat	p.Y586H		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	586					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	TAGGATCATGTATACGGTATT	0.368													C	30668232	T	C	30668232	3	2	364	1	0	0	0	0	1	0	0	0	6296	1638	57	3	1810	3	GARS	7	30668232	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	176834	30668232	128470431	5934	29436											
GARS	2617	broad.mit.edu	37	chr7	30673355	30673355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccttgtctctagatctCtgagctgcccagcatagtcc	6	14	7	14	0	2	2	0	1	2	1	6	2	4	2	3	0	3	2	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30673355C>A	ENST00000389266.3	+	17	2340	c.2099C>A	c.(2098-2100)tCt>tAt	p.S700Y		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	700					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTCTAGATCTCTGAGCTGCCC	0.458													A	30673355	C	A	30673355	3	1	364	1	0	0	0	0	1	0	0	0	6296	913	32	4	2165	4	GARS	7	30673355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5123	30673355	128465308	5935	29437											
FAM188B	84182	broad.mit.edu	37	chr7	30876364	30876364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatcaaaaccaattgAcctctcagtagcaaaggtaa	17	7	7	10	0	2	1	2	1	1	0	3	2	2	1	2	1	3	4	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30876364A>G	ENST00000265299.6	+	7	1300	c.1223A>G	c.(1222-1224)gAc>gGc	p.D408G	INMT-FAM188B_ENST00000458257.1_3'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	408										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AAACCAATTGACCTCTCAGTA	0.448													G	30876364	A	G	30876364	3	3	364	1	0	0	0	0	1	0	0	0	5561	275	10	3	1249	3	FAM188B	7	30876364	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	203009	30876364	128262299	5936	29438											
AQP1	358	broad.mit.edu	37	chr7	30951901	30951901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgggaactcgcttggccGcaatgacgtgagtggggtgt	7	9	17	8	3	0	2	0	2	0	0	1	4	0	3	1	4	1	2	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:30951901G>A	ENST00000311813.4	+	1	432	c.377G>A	c.(376-378)cGc>cAc	p.R126H	AQP1_ENST00000434909.2_Missense_Mutation_p.R186H|AQP1_ENST00000509504.1_Missense_Mutation_p.R303H	NM_198098.2	NP_932766.1			aquaporin 1									p.R126H(1)		kidney(1)|large_intestine(2)|lung(9)	12		Melanoma(862;0.16)				TCGCTTGGCCGCAATGACGTG	0.612													A	30951901	G	A	30951901	3	1	364	1	0	0	0	0	1	0	0	0	824	1087	38	1	379	1	AQP1	7	30951901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75537	30951901	128186762	5937	29439											
GHRHR	2692	broad.mit.edu	37	chr7	31009572	31009572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctctggagctgctggCtgaggaggtaagagtcttct	6	12	15	8	0	3	2	0	1	3	1	3	4	3	4	1	4	3	4	1	4	1	2	rs138751215		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31009572C>T	ENST00000409904.3	+	1	425	c.167C>T	c.(166-168)gCt>gTt	p.A56V	GHRHR_ENST00000409316.1_5'UTR|GHRHR_ENST00000326139.2_Missense_Mutation_p.A120V			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	120					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	GAGCTGCTGGCTGAGGAGGTA	0.577													T	31009572	C	T	31009572	3	4	364	1	0	0	0	0	1	0	0	0	6429	797	28	2	373	2	GHRHR	7	31009572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57671	31009572	128129091	5938	29440											
GHRHR	2692	broad.mit.edu	37	chr7	31011684	31011684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccttttccacagcgacGacactgaccactgcagcttc	8	9	7	17	2	0	1	0	1	0	0	2	3	1	1	3	0	4	2	3	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31011684G>A	ENST00000409904.3	+	3	637	c.379G>A	c.(379-381)Gac>Aac	p.D127N	GHRHR_ENST00000409316.1_Silent_p.T8T|GHRHR_ENST00000326139.2_Missense_Mutation_p.D191N|GHRHR_ENST00000461424.1_3'UTR			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	191					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CCACAGCGACGACACTGACCA	0.587													A	31011684	G	A	31011684	3	1	364	1	0	0	0	0	1	0	0	0	6429	1058	37	1	593	1	GHRHR	7	31011684	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2112	31011684	128126979	5939	29441											
GHRHR	2692	broad.mit.edu	37	chr7	31018826	31018826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggaccacgccttcccgCtcggcggcaaaggtgctgac	8	6	13	14	4	0	1	0	1	0	0	2	2	1	2	3	4	1	3	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31018826C>T	ENST00000409904.3	+	10	1305	c.1047C>T	c.(1045-1047)cgC>cgT	p.R349R	GHRHR_ENST00000409316.1_3'UTR|GHRHR_ENST00000326139.2_Silent_p.R413R|GHRHR_ENST00000461424.1_Intron			Q02643	GHRHR_HUMAN	growth hormone releasing hormone receptor	413					activation of adenylate cyclase activity by G-protein signaling pathway|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to estrogen stimulus|response to glucocorticoid stimulus	cell surface|integral to membrane|nuclear inner membrane|nuclear matrix|nuclear outer membrane|plasma membrane|stored secretory granule	growth factor binding|growth hormone-releasing hormone receptor activity|peptide hormone binding			biliary_tract(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35					Sermorelin(DB00010)	CGCCTTCCCGCTCGGCGGCAA	0.602													T	31018826	C	T	31018826	2	4	364	1	0	0	0	0	0	0	0	1	6429	784	28	2		2	GHRHR	7	31018826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7142	31018826	128119837	5940	29442											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31117681	31117681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtcctggtcagctgccCtgagctcttccgaatcttca	6	12	10	13	1	4	1	2	1	2	0	6	3	6	1	3	2	3	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31117681C>A	ENST00000304166.4	+	4	522	c.233C>A	c.(232-234)cCt>cAt	p.P78H	ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.P78H|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.P78H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	78					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						GTCAGCTGCCCTGAGCTCTTC	0.592													A	31117681	C	A	31117681	3	1	364	1	0	0	0	0	1	0	0	0	303	681	24	4	243	4	ADCYAP1R1	7	31117681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98855	31117681	128020982	5941	29443											
NEUROD6	63974	broad.mit.edu	37	chr7	31377922	31377922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgtgagagattggctgcGcagatgtaagtcgtaaggga	11	10	15	5	2	0	3	0	1	0	2	1	5	0	4	0	2	1	4	0	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31377922G>A	ENST00000297142.3	-	2	1283	c.961C>T	c.(961-963)Cgc>Tgc	p.R321C		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	321					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R321C(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						GATTGGCTGCGCAGATGTAAG	0.478													A	31377922	G	A	31377922	3	1	364	1	0	0	0	0	1	0	0	0	10427	1087	38	1	56	1	NEUROD6	7	31377922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260241	31377922	127760741	5942	29444											
CCDC129	223075	broad.mit.edu	37	chr7	31592682	31592682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctgacaaccttcaggaagGccaggaaaagagcaagagag	17	4	12	8	0	2	3	1	1	1	2	2	6	2	5	2	3	2	1	2	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31592682G>A	ENST00000319386.3	+	2	1037	c.44G>A	c.(43-45)gGc>gAc	p.G15D	CCDC129_ENST00000407970.3_Missense_Mutation_p.G15D|CCDC129_ENST00000451887.2_Missense_Mutation_p.G41D|CCDC129_ENST00000482748.1_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	15										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTTCAGGAAGGCCAGGAAAAG	0.498													A	31592682	G	A	31592682	3	1	364	1	0	0	0	0	1	0	0	0	2790	1203	42	2	46	2	CCDC129	7	31592682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214760	31592682	127545981	5943	29445											
CCDC129	223075	broad.mit.edu	37	chr7	31617984	31617984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagaacttatttcagaCtaacaagctcaagagcttgt	15	10	9	7	0	2	3	2	0	0	3	2	5	2	3	0	1	4	2	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31617984C>T	ENST00000409210.1	+	6	1014	c.830C>T	c.(829-831)aCt>aTt	p.T277I	CCDC129_ENST00000407970.3_Missense_Mutation_p.T369I|CCDC129_ENST00000451887.2_Missense_Mutation_p.T395I|CCDC129_ENST00000319386.3_Intron			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	369										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						TTATTTCAGACTAACAAGCTC	0.517													T	31617984	C	T	31617984	3	4	364	1	0	0	0	0	1	0	0	0	2790	565	20	2	1132	2	CCDC129	7	31617984	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25302	31617984	127520679	5944	29446											
CCDC129	223075	broad.mit.edu	37	chr7	31682426	31682426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagattccaaaagtagggCgagcatgtctttttcaagcc	11	10	10	10	1	2	1	1	0	1	1	3	2	3	1	3	1	2	2	3	1	4	4	rs138066602	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682426C>T	ENST00000319386.3	+	11	1991	c.998C>T	c.(997-999)gCg>gTg	p.A333V	CCDC129_ENST00000407970.3_Missense_Mutation_p.A481V|CCDC129_ENST00000451887.2_Missense_Mutation_p.A507V|CCDC129_ENST00000409210.1_Missense_Mutation_p.A389V			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	481										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						AAAAGTAGGGCGAGCATGTCT	0.512													T	31682426	C	T	31682426	3	4	364	1	0	0	0	0	1	0	0	0	2790	768	27	1	1480	1	CCDC129	7	31682426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64442	31682426	127456237	5945	29447											
CCDC129	223075	broad.mit.edu	37	chr7	31682533	31682533	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggaggggccaccagagCtgtatatcccagacatggcc	10	6	12	13	0	0	2	0	0	0	2	1	3	1	3	5	4	1	2	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31682533C>A	ENST00000319386.3	+	11	2098	c.1105C>A	c.(1105-1107)Ctg>Atg	p.L369M	CCDC129_ENST00000407970.3_Missense_Mutation_p.L517M|CCDC129_ENST00000451887.2_Missense_Mutation_p.L543M|CCDC129_ENST00000409210.1_Missense_Mutation_p.L425M			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	517										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						GCCACCAGAGCTGTATATCCC	0.542													A	31682533	C	A	31682533	3	1	364	1	0	0	0	0	1	0	0	0	2790	796	28	4	1587	4	CCDC129	7	31682533	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107	31682533	127456130	5946	29448											
PDE1C	5137	broad.mit.edu	37	chr7	31855724	31855724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccttttgctgctcctctgCggccaggcgagccttttcct	2	15	9	15	2	1	0	0	0	1	0	4	1	4	0	5	2	4	2	5	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31855724C>T	ENST00000396184.3	-	16	1831	c.1627G>A	c.(1627-1629)Gca>Aca	p.A543T	PDE1C_ENST00000479980.1_5'UTR|PDE1C_ENST00000321453.7_Missense_Mutation_p.A543T|PDE1C_ENST00000396182.2_Missense_Mutation_p.A543T|PDE1C_ENST00000396191.1_Missense_Mutation_p.A543T|PDE1C_ENST00000396193.1_Missense_Mutation_p.A603T	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	543					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding	p.A543S(2)|p.A603S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TGCTCCTCTGCGGCCAGGCGA	0.502													T	31855724	C	T	31855724	3	4	364	1	0	0	0	0	1	0	0	0	11711	768	27	1	289	1	PDE1C	7	31855724	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173191	31855724	127282939	5947	29449											
PDE1C	5137	broad.mit.edu	37	chr7	31877483	31877483	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagccacaagcacacttaCgcttctggctgctgcagagc	11	7	9	14	1	1	1	0	0	1	1	1	1	1	1	1	1	6	5	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:31877483C>T	ENST00000396184.3	-	11	1287		c.e11+1		PDE1C_ENST00000321453.7_Splice_Site|PDE1C_ENST00000396182.2_Splice_Site|PDE1C_ENST00000396191.1_Splice_Site|PDE1C_ENST00000396193.1_Splice_Site	NM_005020.2	NP_005011.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa						activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AGCACACTTACGCTTCTGGCT	0.423													T	31877483	C	T	31877483	5	4	364	1	0	0	0	0	0	0	1	0	11711	550	19	1	853	1	PDE1C	7	31877483	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21759	31877483	127261180	5948	29450											
PDE1C	5137	broad.mit.edu	37	chr7	32209452	32209452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtggcaattcatcagCtaggatctcctctgggggtc	7	11	12	11	0	4	0	2	0	2	0	6	1	4	1	1	4	2	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209452C>T	ENST00000396193.1	-	3	846	c.253G>A	c.(253-255)Gct>Act	p.A85T		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			AATTCATCAGCTAGGATCTCC	0.498													T	32209452	C	T	32209452	3	4	364	1	0	0	0	0	1	0	0	0	11711	812	28	2		2	PDE1C	7	32209452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	331969	32209452	126929211	5949	29451											
PDE1C	5137	broad.mit.edu	37	chr7	32209518	32209518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttctccttgacattccCtgtgagcccatcgatgaggg	6	12	11	12	1	1	3	0	3	1	0	4	4	2	3	3	2	1	1	3	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32209518C>A	ENST00000396193.1	-	3	780	c.187G>T	c.(187-189)Ggg>Tgg	p.G63W		NM_001191058.1	NP_001177987.1	Q14123	PDE1C_HUMAN	phosphodiesterase 1C, calmodulin-dependent 70kDa	0					activation of phospholipase C activity|nerve growth factor receptor signaling pathway	cytosol	calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(38)|prostate(4)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	81			GBM - Glioblastoma multiforme(11;0.216)			TTGACATTCCCTGTGAGCCCA	0.517													A	32209518	C	A	32209518	3	1	364	1	0	0	0	0	1	0	0	0	11711	696	24	4		4	PDE1C	7	32209518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	32209518	126929145	5950	29452											
AVL9	23080	broad.mit.edu	37	chr7	32615649	32615649	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactacagggtgtggaacagCaacaagcatccagcacttgc	14	6	10	11	0	0	0	0	0	0	0	1	1	1	1	1	2	8	3	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:32615649C>T	ENST00000318709.4	+	13	1874	c.1653C>T	c.(1651-1653)agC>agT	p.S551S	AVL9_ENST00000404479.1_Intron|AVL9_ENST00000409301.1_Silent_p.S551S	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	551						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TGTGGAACAGCAACAAGCATC	0.398													T	32615649	C	T	32615649	2	4	364	1	0	0	0	0	0	0	0	1	1233	709	25	2		2	AVL9	7	32615649	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	406131	32615649	126523014	5951	29453											
FKBP9	11328	broad.mit.edu	37	chr7	33039868	33039868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggctatggggaagctggCgtgggtgagtaagcaacgct	8	8	18	7	2	0	1	0	1	0	0	0	2	0	2	0	5	3	5	0	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33039868C>T	ENST00000242209.4	+	8	1537	c.1368C>T	c.(1366-1368)ggC>ggT	p.G456G	FKBP9_ENST00000538443.1_Silent_p.G318G|FKBP9_ENST00000538336.1_Silent_p.G509G|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000490776.2_Silent_p.G224G	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	456	PPIase FKBP-type 4.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			GGGAAGCTGGCGTGGGTGAGT	0.527													T	33039868	C	T	33039868	2	4	364	1	0	0	0	0	0	0	0	1	5964	755	27	1		1	FKBP9	7	33039868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	424219	33039868	126098795	5952	29454											
BBS9	27241	broad.mit.edu	37	chr7	33380508	33380508	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttttttaaatcacaGgtgtttggcccatgactgag	8	18	8	7	0	2	2	1	2	1	0	2	2	2	2	1	2	0	1	1	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:33380508G>A	ENST00000242067.6	+	11	1719		c.e11-1		BBS9_ENST00000355070.2_Splice_Site|BBS9_ENST00000350941.3_Splice_Site|BBS9_ENST00000354265.4_Splice_Site|BBS9_ENST00000396127.2_Splice_Site	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9						fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TTAAATCACAGGTGTTTGGCC	0.308									Bardet-Biedl syndrome				A	33380508	G	A	33380508	5	1	364	1	0	0	0	0	0	0	1	0	1347	1014	35	2	1236	2	BBS9	7	33380508	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340640	33380508	125758155	5953	29455											
BMPER	168667	broad.mit.edu	37	chr7	34125702	34125702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtggactacgccactttctaCcggtaagtacagtgttctgg	8	12	11	10	2	2	0	0	0	2	0	2	1	2	1	2	3	3	3	2	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34125702C>T	ENST00000297161.2	+	14	2117	c.1743C>T	c.(1741-1743)taC>taT	p.Y581Y	BMPER_ENST00000426693.1_Silent_p.Y581Y	NM_133468.4	NP_597725.1	Q8N8U9	BMPER_HUMAN	BMP binding endothelial regulator	581					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|endothelial cell activation|negative regulation of BMP signaling pathway|positive regulation of ERK1 and ERK2 cascade|regulation of endothelial cell migration|regulation of pathway-restricted SMAD protein phosphorylation	extracellular space				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(24)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48						CCACTTTCTACCGGTAAGTAC	0.483													T	34125702	C	T	34125702	2	4	364	1	0	0	0	0	0	0	0	1	1474	518	18	2		2	BMPER	7	34125702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	745194	34125702	125012961	5954	29456											
NPSR1	387129	broad.mit.edu	37	chr7	34698114	34698114	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttgcactgaaacagtGacttttactgaagtggtgga	10	12	13	6	0	0	3	0	3	0	0	0	4	0	4	0	3	3	2	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34698114G>T	ENST00000360581.1	+	1	218	c.90G>T	c.(88-90)gtG>gtT	p.V30V	NPSR1_ENST00000381553.3_Silent_p.V30V|NPSR1_ENST00000381542.1_Silent_p.V30V|AC005493.1_ENST00000399077.1_Intron|NPSR1_ENST00000381539.3_Silent_p.V30V|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000531252.1_Silent_p.V30V|NPSR1_ENST00000465305.1_Silent_p.V30V|NPSR1_ENST00000359791.1_Silent_p.V30V	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	30						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CTGAAACAGTGACTTTTACTG	0.507													T	34698114	G	T	34698114	2	4	364	1	0	0	0	0	0	0	0	1	10676	1277	45	4		4	NPSR1	7	34698114	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	572412	34698114	124440549	5955	29457											
NPSR1	387129	broad.mit.edu	37	chr7	34888157	34888157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggacaatttcaacctccttCcagacacccaggagcgtttc	10	10	7	14	1	1	1	1	0	0	1	4	3	3	3	4	2	2	1	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34888157C>T	ENST00000360581.1	+	8	1035	c.907C>T	c.(907-909)Cca>Tca	p.P303S	NPSR1_ENST00000381542.1_Missense_Mutation_p.P237S|NPSR1_ENST00000381539.3_Missense_Mutation_p.P303S|NPSR1_ENST00000531252.1_Missense_Mutation_p.P292S|NPSR1_ENST00000359791.1_Missense_Mutation_p.P303S	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	303						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CAACCTCCTTCCAGACACCCA	0.493													T	34888157	C	T	34888157	3	4	364	1	0	0	0	0	1	0	0	0	10676	855	30	2	937	2	NPSR1	7	34888157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190043	34888157	124250506	5956	29458											
DPY19L1	23333	broad.mit.edu	37	chr7	34985313	34985313	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttagctaagacaccccAcatatcactaataatctgta	14	13	4	10	0	2	1	1	0	1	1	2	1	2	1	2	0	1	3	2	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:34985313A>C	ENST00000310974.4	-	16	1435	c.1291T>G	c.(1291-1293)Tgg>Ggg	p.W431G		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	431						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						AAGACACCCCACATATCACTA	0.264													C	34985313	A	C	34985313	3	2	364	1	0	0	0	0	1	0	0	0	4779	159	6	5	764	5	DPY19L1	7	34985313	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	97156	34985313	124153350	5957	29459											
EEPD1	80820	broad.mit.edu	37	chr7	36194070	36194070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacatcaacactgccaCggaggaggagctgatgaccc	12	5	11	13	1	2	2	2	2	0	0	2	5	2	5	2	3	4	2	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36194070C>T	ENST00000242108.4	+	2	855	c.137C>T	c.(136-138)aCg>aTg	p.T46M	EEPD1_ENST00000534978.1_Missense_Mutation_p.T46M	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	46	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						AACACTGCCACGGAGGAGGAG	0.587													T	36194070	C	T	36194070	3	4	364	1	0	0	0	0	1	0	0	0	4971	536	19	1	139	1	EEPD1	7	36194070	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1208757	36194070	122944593	5958	29460											
KIAA0895	23366	broad.mit.edu	37	chr7	36397121	36397121	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaatgtgaaatgcttcttTtgttgtcaatgatcaatgaa	14	15	7	5	0	3	3	2	3	1	0	3	3	3	3	0	0	1	2	0	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36397121T>G	ENST00000317020.6	-	2	404	c.104A>C	c.(103-105)aAa>aCa	p.K35T	KIAA0895_ENST00000440378.1_Missense_Mutation_p.K35T|KIAA0895_ENST00000480192.1_Intron|KIAA0895_ENST00000436884.1_5'UTR|KIAA0895_ENST00000297063.6_Missense_Mutation_p.K86T|KIAA0895_ENST00000338533.5_Missense_Mutation_p.K73T|KIAA0895_ENST00000415803.2_Missense_Mutation_p.K73T|KIAA0895_ENST00000453212.1_Intron	NM_015314.2	NP_056129.2	Q8NCT3	K0895_HUMAN	KIAA0895	86	Arg-rich.									breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						AATGCTTCTTTTGTTGTCAAT	0.368													G	36397121	T	G	36397121	3	3	364	1	0	0	0	0	1	0	0	0	8255	1841	64	5	1325	5	KIAA0895	7	36397121	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	203051	36397121	122741542	5959	29461											
ANLN	54443	broad.mit.edu	37	chr7	36450152	36450152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaattaagcctttcctggaaCgctttggagagcgttgtcaa	10	12	11	8	2	1	1	1	0	0	1	2	4	2	2	2	2	3	2	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36450152C>T	ENST00000265748.2	+	6	1347	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	ANLN_ENST00000495714.1_3'UTR|ANLN_ENST00000396068.2_Missense_Mutation_p.R376C	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	376	Interaction with F-actin.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TTTCCTGGAACGCTTTGGAGA	0.398													T	36450152	C	T	36450152	3	4	364	1	0	0	0	0	1	0	0	0	694	536	19	1	1148	1	ANLN	7	36450152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53031	36450152	122688511	5960	29462											
AOAH	313	broad.mit.edu	37	chr7	36571896	36571896	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagtgagtgctcacctggAggcagttcaggaaggagtac	10	7	15	9	0	2	1	2	1	0	0	2	4	2	4	2	4	2	4	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36571896A>T	ENST00000431169.1	-	17	1661	c.1361T>A	c.(1360-1362)cTc>cAc	p.L454H	AOAH_ENST00000538464.1_Missense_Mutation_p.L176H|AOAH_ENST00000258749.5_Missense_Mutation_p.L454H|AOAH_ENST00000491444.1_5'UTR|AOAH_ENST00000535891.1_Missense_Mutation_p.L422H	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	454					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						GCTCACCTGGAGGCAGTTCAG	0.527													T	36571896	A	T	36571896	3	4	364	1	0	0	0	0	1	0	0	0	728	304	11	5	727	5	AOAH	7	36571896	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121744	36571896	122566767	5961	29463											
AOAH	313	broad.mit.edu	37	chr7	36713578	36713578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctgatccaaacttgtcaAtgactaaatagcaggtggtt	12	13	9	7	0	2	2	1	2	1	0	3	2	3	2	1	2	2	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36713578A>G	ENST00000431169.1	-	3	560	c.260T>C	c.(259-261)aTt>aCt	p.I87T	AOAH_ENST00000258749.5_Missense_Mutation_p.I87T|AOAH_ENST00000535891.1_Missense_Mutation_p.I55T	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	87	Saposin B-type.				inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						AAACTTGTCAATGACTAAATA	0.348													G	36713578	A	G	36713578	3	3	364	1	0	0	0	0	1	0	0	0	728	101	4	3	1884	3	AOAH	7	36713578	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	141682	36713578	122425085	5962	29464											
ELMO1	9844	broad.mit.edu	37	chr7	36927174	36927174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaataccttgcctccGccgggcattgagtttcctaa	11	10	8	12	2	0	2	0	1	0	1	2	2	2	2	5	1	3	2	5	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:36927174G>A	ENST00000310758.4	-	18	2352	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W	ELMO1_ENST00000448602.1_Missense_Mutation_p.R569W|ELMO1_ENST00000341056.3_Missense_Mutation_p.R271W|ELMO1_ENST00000396045.3_Missense_Mutation_p.R89W|ELMO1_ENST00000396040.2_Missense_Mutation_p.R89W|ELMO1_ENST00000442504.1_Missense_Mutation_p.R569W	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	569	PH.				actin cytoskeleton organization|apoptosis|cellular component movement|phagocytosis, engulfment|Rac protein signal transduction|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|plasma membrane	SH3 domain binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						CCTTGCCTCCGCCGGGCATTG	0.512													A	36927174	G	A	36927174	3	1	364	1	0	0	0	0	1	0	0	0	5106	1086	38	1	498	1	ELMO1	7	36927174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213596	36927174	122211489	5963	29465											
GPR141	353345	broad.mit.edu	37	chr7	37780630	37780630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatggtgcagaagctacGccactctttactatcccacc	9	11	8	13	1	1	2	0	1	1	1	2	2	2	2	3	1	4	3	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37780630G>A	ENST00000447769.1	+	4	924	c.635G>A	c.(634-636)cGc>cAc	p.R212H	EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000334425.1_Missense_Mutation_p.R212H|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	212						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CAGAAGCTACGCCACTCTTTA	0.413													A	37780630	G	A	37780630	3	1	364	1	0	0	0	0	1	0	0	0	6703	1087	38	1	637	1	GPR141	7	37780630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	853456	37780630	121358033	5964	29466											
SFRP4	6424	broad.mit.edu	37	chr7	37953882	37953883	+	Splice_Site	INS	-	-	A																															ttttacacttgcaccgatctINSaaaaaaggcagaagaggcag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37953882_37953883insA	ENST00000436072.2	-	3	904		c.e3-2		EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4						brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TGCACCGATCTAAAAAAGGCAG	0.426													A	37953883	-	A	37953882	8	5	364	1	0	1	1	0	0	0	1	0	14256	1536	53	0	531	0	SFRP4	7	37953882	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	173252	37953882	121184781	5965	29467											
EPDR1	54749	broad.mit.edu	37	chr7	37960397	37960397	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatctcaaaagcggcagagGccaccgaagggacaggaagc	14	2	15	10	2	1	1	1	0	1	1	2	5	1	4	2	5	2	1	2	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:37960397G>A	ENST00000559325.1	+	1	235	c.216G>A	c.(214-216)agG>agA	p.R72R	EPDR1_ENST00000476620.1_Intron|EPDR1_ENST00000423717.1_5'UTR|EPDR1_ENST00000199448.4_5'UTR			Q9UM22	EPDR1_HUMAN	ependymin related 1	0					cell-matrix adhesion	extracellular region	calcium ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	22						AGCGGCAGAGGCCACCGAAGG	0.677													A	37960397	G	A	37960397	2	1	364	1	0	0	0	0	0	0	0	1	5204	1194	42	2		2	EPDR1	7	37960397	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6515	37960397	121178266	5966	29468											
VPS41	27072	broad.mit.edu	37	chr7	38857475	38857475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacgaaatgtgggtgcacaGcaataatctacaagagaaac	17	7	9	8	1	2	1	1	0	1	1	2	3	2	1	0	1	4	2	0	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38857475G>T	ENST00000310301.4	-	7	446	c.392C>A	c.(391-393)gCt>gAt	p.A131D	VPS41_ENST00000395969.2_Missense_Mutation_p.A106D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	131					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						TGGGTGCACAGCAATAATCTA	0.463													T	38857475	G	T	38857475	3	4	364	1	0	0	0	0	1	0	0	0	17312	971	34	4	2264	4	VPS41	7	38857475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	897078	38857475	120281188	5967	29469											
VPS41	27072	broad.mit.edu	37	chr7	38902182	38902182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgttcccctggacatcaAgtaaataaaccttgccataa	14	11	6	10	0	1	1	1	1	0	0	2	2	2	2	4	1	2	2	4	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:38902182A>G	ENST00000310301.4	-	4	263	c.209T>C	c.(208-210)cTt>cCt	p.L70P	VPS41_ENST00000395969.2_Missense_Mutation_p.L70P	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	70					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CTGGACATCAAGTAAATAAAC	0.308													G	38902182	A	G	38902182	3	3	364	1	0	0	0	0	1	0	0	0	17312	72	3	3	2459	3	VPS41	7	38902182	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44707	38902182	120236481	5968	29470											
RALA	5898	broad.mit.edu	37	chr7	39730138	39730138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtggggaggggttcctctGtgttttctctattacagaaa	9	14	12	6	0	2	1	0	0	2	1	4	2	3	2	1	4	1	2	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:39730138G>A	ENST00000005257.2	+	3	652	c.272G>A	c.(271-273)tGt>tAt	p.C91Y	RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)	91					actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GGGTTCCTCTGTGTTTTCTCT	0.443													A	39730138	G	A	39730138	3	1	364	1	0	0	0	0	1	0	0	0	13098	1377	48	2	278	2	RALA	7	39730138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	827956	39730138	119408525	5969	29471											
CDK13	8621	broad.mit.edu	37	chr7	40027399	40027399	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagagccgcagaagcagcGaaagctgcagaagcaactaa	17	2	12	10	2	0	3	0	0	0	3	0	4	0	3	1	0	7	6	1	0	6	1	rs144712960		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40027399G>A	ENST00000181839.4	+	2	2018	c.1413G>A	c.(1411-1413)gcG>gcA	p.A471A	CDK13_ENST00000340829.5_Silent_p.A471A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	471					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						cagaagcagcgaaagctgcag	0.502													A	40027399	G	A	40027399	2	1	364	1	0	0	0	0	0	0	0	1	3159	1045	37	1		1	CDK13	7	40027399	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	297261	40027399	119111264	5970	29472											
CDK13	8621	broad.mit.edu	37	chr7	40133841	40133841	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgagcctcctgaaccAccaccagtcactgaggaaga	11	5	8	17	1	1	3	1	2	0	1	3	5	3	4	7	1	2	0	7	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133841A>G	ENST00000181839.4	+	14	4406	c.3801A>G	c.(3799-3801)ccA>ccG	p.P1267P	CDK13_ENST00000340829.5_Silent_p.P1207P	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1267					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CTCCTGAACCACCACCAGTCA	0.527													G	40133841	A	G	40133841	2	3	364	1	0	0	0	0	0	0	0	1	3159	146	6	3		3	CDK13	7	40133841	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	106442	40133841	119004822	5971	29473											
CDK13	8621	broad.mit.edu	37	chr7	40133900	40133900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaccagcatgtacccaccaCcagttcttcattaactgacc	13	9	4	15	0	2	1	1	1	1	0	2	1	2	1	5	0	4	3	5	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:40133900C>T	ENST00000181839.4	+	14	4465	c.3860C>T	c.(3859-3861)aCc>aTc	p.T1287I	CDK13_ENST00000340829.5_Missense_Mutation_p.T1227I	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	1287					alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						GTACCCACCACCAGTTCTTCA	0.542													T	40133900	C	T	40133900	3	4	364	1	0	0	0	0	1	0	0	0	3159	507	18	2	3914	2	CDK13	7	40133900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59	40133900	119004763	5972	29474											
GLI3	2737	broad.mit.edu	37	chr7	42004149	42004149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccccatcgtctatgatggCatcgaagtcaatctgtaccc	9	11	8	13	2	3	1	1	1	2	0	6	2	4	1	3	1	1	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004149C>T	ENST00000395925.3	-	15	4606	c.4522G>A	c.(4522-4524)Gcc>Acc	p.A1508T	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1508	Asp/Glu-rich (acidic).				negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCTATGATGGCATCGAAGTCA	0.552									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				T	42004149	C	T	42004149	3	4	364	1	0	0	0	0	1	0	0	0	6495	710	25	2	224	2	GLI3	7	42004149	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1870249	42004149	117134514	5973	29475											
GLI3	2737	broad.mit.edu	37	chr7	42004302	42004302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaatagagaatgaaccagCtttcgtgtcttgctgactga	12	12	10	7	1	1	5	0	4	1	1	2	6	1	5	1	0	3	2	1	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42004302C>A	ENST00000395925.3	-	15	4453	c.4369G>T	c.(4369-4371)Gct>Tct	p.A1457S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1457					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AATGAACCAGCTTTCGTGTCT	0.517									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				A	42004302	C	A	42004302	3	1	364	1	0	0	0	0	1	0	0	0	6495	797	28	4	377	4	GLI3	7	42004302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153	42004302	117134361	5974	29476											
GLI3	2737	broad.mit.edu	37	chr7	42005518	42005518	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggactggccgccctcgggCcgcgtgtaattctgaagcac	6	7	14	14	5	1	1	0	1	1	0	2	2	1	2	3	3	1	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42005518C>T	ENST00000395925.3	-	15	3237	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1051					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CGCCCTCGGGCCGCGTGTAAT	0.657									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				T	42005518	C	T	42005518	2	4	364	1	0	0	0	0	0	0	0	1	6495	726	26	2		2	GLI3	7	42005518	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1216	42005518	117133145	5975	29477											
GLI3	2737	broad.mit.edu	37	chr7	42065984	42065984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtggagagagacgggcgcGgaagagtaggtgaagctcaa	13	5	18	5	3	1	4	1	1	0	3	1	7	1	5	0	4	1	2	0	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42065984G>A	ENST00000395925.3	-	8	1140	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	352					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						AGACGGGCGCGGAAGAGTAGG	0.537									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				A	42065984	G	A	42065984	2	1	364	1	0	0	0	0	0	0	0	1	6495	1103	39	1		1	GLI3	7	42065984	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60466	42065984	117072679	5976	29478											
C7orf25	79020	broad.mit.edu	37	chr7	42950214	42950214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttctcctaaggtatCtgtataaccaaagacatgaa	13	14	6	8	0	2	2	0	1	2	1	3	2	2	2	2	1	2	3	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42950214C>A	ENST00000350427.4	-	2	561	c.286G>T	c.(286-288)Gat>Tat	p.D96Y	PSMA2_ENST00000442788.1_3'UTR|C7orf25_ENST00000438029.1_Missense_Mutation_p.D96Y|C7orf25_ENST00000431882.2_Missense_Mutation_p.D154Y|C7orf25_ENST00000447342.1_Missense_Mutation_p.D96Y			Q9BPX7	CG025_HUMAN	chromosome 7 open reading frame 25	96										endometrium(6)|kidney(1)|large_intestine(7)|lung(2)|skin(1)	17						CCTAAGGTATCTGTATAACCA	0.428													A	42950214	C	A	42950214	3	1	364	1	0	0	0	0	1	0	0	0	2404	913	32	4	983	4	C7orf25	7	42950214	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	884230	42950214	116188449	5977	29479											
PSMA2	5683	broad.mit.edu	37	chr7	42964361	42964361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtacacaagatagtatTgttgagctagttttcgagct	10	15	10	6	1	0	2	0	1	0	1	1	3	0	2	0	1	3	6	0	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:42964361T>C	ENST00000538645.1	-	3	225	c.53A>G	c.(52-54)cAa>cGa	p.Q18R	PSMA2_ENST00000442788.1_Missense_Mutation_p.Q96R|PSMA2_ENST00000445517.1_Missense_Mutation_p.Q26R|PSMA2_ENST00000223321.4_Missense_Mutation_p.Q96R			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	96					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						AAGATAGTATTGTTGAGCTAG	0.403													C	42964361	T	C	42964361	3	2	364	1	0	0	0	0	1	0	0	0	12752	1812	63	3	437	3	PSMA2	7	42964361	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14147	42964361	116174302	5978	29480											
HECW1	23072	broad.mit.edu	37	chr7	43483896	43483896	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaacctgatggaaagCggcagtggggaacctcggtc	12	6	14	9	2	0	2	0	2	0	0	2	4	0	4	2	5	4	1	2	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43483896C>T	ENST00000395891.2	+	11	1730	c.1125C>T	c.(1123-1125)agC>agT	p.S375S	HECW1_ENST00000453890.1_Silent_p.S375S	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	p.S354S(1)		NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGATGGAAAGCGGCAGTGGGG	0.552													T	43483896	C	T	43483896	2	4	364	1	0	0	0	0	0	0	0	1	7097	767	27	1		1	HECW1	7	43483896	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	519535	43483896	115654767	5979	29481											
HECW1	23072	broad.mit.edu	37	chr7	43508613	43508613	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgaacgctaccagcacaAccgggacttggtgaatttca	11	11	9	10	2	1	2	1	2	0	0	1	3	1	3	2	2	4	2	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43508613A>T	ENST00000395891.2	+	16	3613	c.3008A>T	c.(3007-3009)aAc>aTc	p.N1003I	HECW1_ENST00000453890.1_Missense_Mutation_p.N969I	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TACCAGCACAACCGGGACTTG	0.532													T	43508613	A	T	43508613	3	4	364	1	0	0	0	0	1	0	0	0	7097	43	2	5	3062	5	HECW1	7	43508613	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24717	43508613	115630050	5980	29482											
HECW1	23072	broad.mit.edu	37	chr7	43519258	43519258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccactttcattgacccccGaatccctcttcagaacggtc	9	11	5	16	2	3	2	2	1	1	1	5	3	4	2	4	1	2	0	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43519258G>A	ENST00000395891.2	+	17	3754	c.3149G>A	c.(3148-3150)cGa>cAa	p.R1050Q	HECW1_ENST00000453890.1_Missense_Mutation_p.R1016Q	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		WW 2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ATTGACCCCCGAATCCCTCTT	0.517													A	43519258	G	A	43519258	3	1	364	1	0	0	0	0	1	0	0	0	7097	1058	37	1	3207	1	HECW1	7	43519258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10645	43519258	115619405	5981	29483											
STK17A	9263	broad.mit.edu	37	chr7	43664326	43664326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgtagttacttcatataCtctaggacaatgcagacagt	14	13	7	7	0	2	1	1	0	1	1	2	2	2	2	0	1	3	3	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43664326C>A	ENST00000319357.5	+	7	1309	c.1130C>A	c.(1129-1131)aCt>aAt	p.T377N		NM_004760.2	NP_004751.2	Q9UEE5	ST17A_HUMAN	serine/threonine kinase 17a	377					apoptosis|induction of apoptosis|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						ACTTCATATACTCTAGGACAA	0.373													A	43664326	C	A	43664326	3	1	364	1	0	0	0	0	1	0	0	0	15386	565	20	4	1156	4	STK17A	7	43664326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145068	43664326	115474337	5982	29484											
BLVRA	644	broad.mit.edu	37	chr7	43846772	43846772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactggctgctgaaaagaaaCgcatcctgcactgcctgggg	11	7	12	11	1	0	2	0	1	0	1	1	2	1	2	2	3	5	4	2	3	4	0	rs138692014	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43846772C>T	ENST00000402924.1	+	9	992	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	BLVRA_ENST00000265523.4_Missense_Mutation_p.R277C	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	277					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	TGAAAAGAAACGCATCCTGCA	0.438													T	43846772	C	T	43846772	3	4	364	1	0	0	0	0	1	0	0	0	1457	536	19	1	855	1	BLVRA	7	43846772	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182446	43846772	115291891	5983	29485											
URGCP	55665	broad.mit.edu	37	chr7	43916585	43916585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctagggccgggaacaGatacatcatgaaggttctgg	10	8	15	8	1	2	2	1	1	1	1	2	3	2	3	2	5	2	1	2	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43916585G>T	ENST00000336086.6	-	4	4584	c.2348C>A	c.(2347-2349)tCt>tAt	p.S783Y	URGCP_ENST00000453200.1_Missense_Mutation_p.S826Y|URGCP_ENST00000443736.1_Missense_Mutation_p.S783Y|URGCP_ENST00000402306.3_Missense_Mutation_p.S817Y|URGCP_ENST00000447717.3_Missense_Mutation_p.S783Y|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.S783Y|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	826					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCGGGAACAGATACATCATG	0.532													T	43916585	G	T	43916585	3	4	364	1	0	0	0	0	1	0	0	0	17128	942	33	4	322	4	URGCP	7	43916585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69813	43916585	115222078	5984	29486											
URGCP	55665	broad.mit.edu	37	chr7	43917062	43917062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggacgggcatgctcagcGtgctcccatcgattagctcc	7	8	12	14	4	1	0	1	0	0	0	4	2	3	1	2	2	5	4	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917062G>A	ENST00000336086.6	-	4	4107	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	URGCP_ENST00000453200.1_Missense_Mutation_p.T667M|URGCP_ENST00000443736.1_Missense_Mutation_p.T624M|URGCP_ENST00000402306.3_Missense_Mutation_p.T658M|URGCP_ENST00000447717.3_Missense_Mutation_p.T624M|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.T624M|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	667					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CATGCTCAGCGTGCTCCCATC	0.657													A	43917062	G	A	43917062	3	1	364	1	0	0	0	0	1	0	0	0	17128	1145	40	1	799	1	URGCP	7	43917062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	477	43917062	115221601	5985	29487											
URGCP	55665	broad.mit.edu	37	chr7	43917891	43917891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgttgcgcttcccacGgtagggactcaggatgaagt	7	12	14	8	2	1	1	1	1	0	0	2	3	2	3	1	3	1	4	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43917891G>A	ENST00000336086.6	-	4	3278	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	URGCP_ENST00000453200.1_Missense_Mutation_p.R391C|URGCP_ENST00000443736.1_Missense_Mutation_p.R348C|URGCP_ENST00000402306.3_Missense_Mutation_p.R382C|URGCP_ENST00000447717.3_Missense_Mutation_p.R348C|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000223341.7_Missense_Mutation_p.R348C|URGCP-MRPS24_ENST00000603700.1_Intron			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	391					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCTTCCCACGGTAGGGACTC	0.413													A	43917891	G	A	43917891	3	1	364	1	0	0	0	0	1	0	0	0	17128	1116	39	1	1628	1	URGCP	7	43917891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	829	43917891	115220772	5986	29488											
UBE2D4	51619	broad.mit.edu	37	chr7	43982631	43982631	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccgttcaagcccccaaagGtgaggtccctctcccaactc	9	7	7	18	1	2	1	1	1	1	0	5	1	3	1	5	2	2	1	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:43982631G>T	ENST00000222402.3	+	4	287		c.e4+1		UBE2D4_ENST00000394798.4_Splice_Site|POLR2J4_ENST00000427076.1_RNA|UBE2D4_ENST00000446008.1_Splice_Site	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GCCCCCAAAGGTGAGGTCCCT	0.498													T	43982631	G	T	43982631	5	4	364	1	0	0	0	0	0	0	1	0	16953	1275	44	4	213	4	UBE2D4	7	43982631	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64740	43982631	115156032	5987	29489											
SPDYE1	285955	broad.mit.edu	37	chr7	44044819	44044819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaacgccttcatttcttcCtggctctgtgagtggtttgc	5	15	9	12	1	3	1	1	1	2	0	4	1	4	1	3	2	2	2	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44044819C>T	ENST00000258704.3	+	4	762	c.625C>T	c.(625-627)Ctg>Ttg	p.L209L	AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA|RP5-1165K10.2_ENST00000454572.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	209										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						TCATTTCTTCCTGGCTCTGTG	0.507													T	44044819	C	T	44044819	2	4	364	1	0	0	0	0	0	0	0	1	15125	680	24	2		2	SPDYE1	7	44044819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62188	44044819	115093844	5988	29490											
DBNL	28988	broad.mit.edu	37	chr7	44096431	44096431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatggagaaggtggccaagGcttcaggtgccaactacagc	11	7	13	10	0	2	1	2	0	0	1	2	2	2	1	2	5	4	1	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44096431G>A	ENST00000494774.1	+	5	424	c.403G>A	c.(403-405)Gct>Act	p.A135T	DBNL_ENST00000452943.1_Missense_Mutation_p.A110T|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Missense_Mutation_p.A135T|DBNL_ENST00000490734.2_Missense_Mutation_p.A40T|DBNL_ENST00000440166.1_Missense_Mutation_p.A32T|DBNL_ENST00000456905.1_Intron|DBNL_ENST00000448521.1_Missense_Mutation_p.A135T	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	135					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						GGTGGCCAAGGCTTCAGGTGC	0.622													A	44096431	G	A	44096431	3	1	364	1	0	0	0	0	1	0	0	0	4289	1203	42	2	421	2	DBNL	7	44096431	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51612	44096431	115042232	5989	29491											
POLM	27434	broad.mit.edu	37	chr7	44113479	44113479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggatgggcagggcctcGtggatccccccacagcagcc	7	5	13	16	1	0	0	0	0	0	0	3	2	2	2	6	4	2	2	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113479G>A	ENST00000242248.5	-	9	1318	c.1217C>T	c.(1216-1218)aCg>aTg	p.T406M	POLM_ENST00000395831.3_Missense_Mutation_p.T326M|POLM_ENST00000335195.6_Missense_Mutation_p.T369M	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	406					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						GCAGGGCCTCGTGGATCCCCC	0.607								DNA polymerases (catalytic subunits)					A	44113479	G	A	44113479	3	1	364	1	0	0	0	0	1	0	0	0	12283	1145	40	1	279	1	POLM	7	44113479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17048	44113479	115025184	5990	29492											
POLM	27434	broad.mit.edu	37	chr7	44113534	44113534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggcggaaaatgcagaaacTtctctcaaaagcgtccatgt	14	9	9	9	2	2	1	1	0	1	1	4	2	3	2	1	2	3	1	1	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113534T>C	ENST00000242248.5	-	9	1263	c.1162A>G	c.(1162-1164)Agt>Ggt	p.S388G	POLM_ENST00000395831.3_Missense_Mutation_p.S308G|POLM_ENST00000335195.6_Missense_Mutation_p.S351G	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	388					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						ATGCAGAAACTTCTCTCAAAA	0.612								DNA polymerases (catalytic subunits)					C	44113534	T	C	44113534	3	2	364	1	0	0	0	0	1	0	0	0	12283	1609	56	3	334	3	POLM	7	44113534	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55	44113534	115025129	5991	29493											
POLM	27434	broad.mit.edu	37	chr7	44113546	44113546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaacttctctcaaaagCgtccatgtggctctgttggg	9	11	11	10	1	3	1	1	0	2	1	5	1	4	1	1	2	2	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44113546C>T	ENST00000242248.5	-	9	1251	c.1150G>A	c.(1150-1152)Gct>Act	p.A384T	POLM_ENST00000395831.3_Missense_Mutation_p.A304T|POLM_ENST00000335195.6_Missense_Mutation_p.A347T	NM_013284.2	NP_037416.1	Q9NP87	DPOLM_HUMAN	polymerase (DNA directed), mu	384					DNA recombination|DNA repair	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(3)|skin(2)	22						CTCTCAAAAGCGTCCATGTGG	0.632								DNA polymerases (catalytic subunits)					T	44113546	C	T	44113546	3	4	364	1	0	0	0	0	1	0	0	0	12283	768	27	1	346	1	POLM	7	44113546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12	44113546	115025117	5992	29494											
POLD2	5425	broad.mit.edu	37	chr7	44154395	44154395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgagtcaggggcccaGccccaggcctcccaggtcat	6	10	11	14	0	2	1	2	1	0	0	3	1	3	1	5	4	1	0	5	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44154395G>T	ENST00000406581.2	-	12	2048	c.1399C>A	c.(1399-1401)Ctg>Atg	p.L467M	POLD2_ENST00000452185.1_Missense_Mutation_p.L467M|POLD2_ENST00000223361.3_Missense_Mutation_p.L453M	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	467					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CAGGGGCCCAGCCCCAGGCCT	0.602													T	44154395	G	T	44154395	3	4	364	1	0	0	0	0	1	0	0	0	12268	962	34	4	14	4	POLD2	7	44154395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40849	44154395	114984268	5993	29495											
POLD2	5425	broad.mit.edu	37	chr7	44156081	44156081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagcctccacgctggctGcctgggttttcttggtgagg	5	12	13	11	1	1	1	0	1	1	0	2	1	2	1	3	4	3	3	3	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44156081G>A	ENST00000406581.2	-	8	1458	c.809C>T	c.(808-810)gCa>gTa	p.A270V	POLD2_ENST00000452185.1_Missense_Mutation_p.A270V|POLD2_ENST00000223361.3_Missense_Mutation_p.A270V	NM_001256879.1	NP_001243808.1	P49005	DPOD2_HUMAN	polymerase (DNA directed), delta 2, accessory subunit	270					base-excision repair|DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	12						CACGCTGGCTGCCTGGGTTTT	0.592													A	44156081	G	A	44156081	3	1	364	1	0	0	0	0	1	0	0	0	12268	1319	46	2	620	2	POLD2	7	44156081	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1686	44156081	114982582	5994	29496											
GCK	2645	broad.mit.edu	37	chr7	44189415	44189415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtagcaggagatcatcgtgGccaccgtgtcattcaccatt	10	10	10	11	2	3	1	3	0	0	1	4	2	3	1	3	2	1	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44189415G>A	ENST00000403799.3	-	6	1092	c.623C>T	c.(622-624)gCc>gTc	p.A208V	GCK_ENST00000395796.3_Missense_Mutation_p.A207V|GCK_ENST00000437084.1_Missense_Mutation_p.A191V|GCK_ENST00000345378.2_Missense_Mutation_p.A209V	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	208					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						GATCATCGTGGCCACCGTGTC	0.567													A	44189415	G	A	44189415	3	1	364	1	0	0	0	0	1	0	0	0	6347	1203	42	2	794	2	GCK	7	44189415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33334	44189415	114949248	5995	29497											
NPC1L1	29881	broad.mit.edu	37	chr7	44575999	44575999	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagggagaacgtcatgatCagggcctctgcctcagaata	11	9	12	9	1	4	4	3	2	1	2	4	5	4	4	2	2	2	0	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44575999C>A	ENST00000289547.4	-	4	1765	c.1710G>T	c.(1708-1710)ctG>ctT	p.L570L	NPC1L1_ENST00000381160.3_Silent_p.L570L|NPC1L1_ENST00000546276.1_Silent_p.L570L|NPC1L1_ENST00000423141.1_Silent_p.L570L	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	570					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACGTCATGATCAGGGCCTCTG	0.587													A	44575999	C	A	44575999	2	1	364	1	0	0	0	0	0	0	0	1	10647	813	29	4		4	NPC1L1	7	44575999	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	386584	44575999	114562664	5996	29498											
NPC1L1	29881	broad.mit.edu	37	chr7	44579468	44579468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtggcagctgcagggacGcgcacacggctgcaggagtc	8	4	17	12	4	0	0	0	0	0	0	1	2	0	2	0	4	4	6	0	4	0	0	rs114482489	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44579468G>A	ENST00000289547.4	-	2	583	c.528C>T	c.(526-528)cgC>cgT	p.R176R	NPC1L1_ENST00000381160.3_Silent_p.R176R|NPC1L1_ENST00000546276.1_Silent_p.R176R|NPC1L1_ENST00000423141.1_Silent_p.R176R	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	176					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CTGCAGGGACGCGCACACGGC	0.622													A	44579468	G	A	44579468	2	1	364	1	0	0	0	0	0	0	0	1	10647	1074	38	1		1	NPC1L1	7	44579468	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3469	44579468	114559195	5997	29499											
DDX56	54606	broad.mit.edu	37	chr7	44612025	44612025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaagcctggtaaatcCggggcaagtgactgaaatga	15	7	13	6	1	0	4	0	4	0	1	1	5	1	4	2	3	1	2	2	3	6	1	rs140918826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44612025C>T	ENST00000258772.5	-	5	672	c.566G>A	c.(565-567)cGg>cAg	p.R189Q	DDX56_ENST00000431640.1_Missense_Mutation_p.R189Q|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	189	Helicase ATP-binding.				rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTGGTAAATCCGGGGCAAGTG	0.493													T	44612025	C	T	44612025	3	4	364	1	0	0	0	0	1	0	0	0	4408	652	23	1	1117	1	DDX56	7	44612025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32557	44612025	114526638	5998	29500											
OGDH	4967	broad.mit.edu	37	chr7	44737282	44737282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggtgacttccacaacacGgcccagtgtatcatcgacca	10	10	8	13	2	1	1	1	1	0	0	3	2	2	1	3	2	1	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737282G>A	ENST00000222673.5	+	17	2301	c.2259G>A	c.(2257-2259)acG>acA	p.T753T	OGDH_ENST00000449767.1_Silent_p.T749T|OGDH_ENST00000439616.2_Silent_p.T603T|OGDH_ENST00000444676.1_Silent_p.T768T|OGDH_ENST00000543843.1_Silent_p.T704T|OGDH_ENST00000447398.1_Silent_p.T764T	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	753					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TCCACAACACGGCCCAGTGTA	0.582													A	44737282	G	A	44737282	2	1	364	1	0	0	0	0	0	0	0	1	10915	1103	39	1		1	OGDH	7	44737282	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125257	44737282	114401381	5999	29501											
OGDH	4967	broad.mit.edu	37	chr7	44737297	44737297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacacggcccagtgtatcatCgaccagttcatctgcccggg	9	8	10	14	3	3	0	2	0	1	0	4	1	3	0	3	2	2	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44737297C>T	ENST00000222673.5	+	17	2316	c.2274C>T	c.(2272-2274)atC>atT	p.I758I	OGDH_ENST00000449767.1_Silent_p.I754I|OGDH_ENST00000439616.2_Silent_p.I608I|OGDH_ENST00000444676.1_Silent_p.I773I|OGDH_ENST00000543843.1_Silent_p.I709I|OGDH_ENST00000447398.1_Silent_p.I769I	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	758					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	AGTGTATCATCGACCAGTTCA	0.592													T	44737297	C	T	44737297	2	4	364	1	0	0	0	0	0	0	0	1	10915	874	31	1		1	OGDH	7	44737297	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15	44737297	114401366	6000	29502											
OGDH	4967	broad.mit.edu	37	chr7	44739829	44739829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggcaacttcttccaCgtgctacgacgccagatcct	8	10	7	16	3	1	1	0	0	1	1	4	2	4	1	4	1	3	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44739829C>T	ENST00000222673.5	+	19	2562	c.2520C>T	c.(2518-2520)caC>caT	p.H840H	OGDH_ENST00000449767.1_Silent_p.H836H|OGDH_ENST00000439616.2_Silent_p.H690H|OGDH_ENST00000444676.1_Silent_p.H855H|OGDH_ENST00000543843.1_Silent_p.H791H|OGDH_ENST00000447398.1_Silent_p.H851H	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	840					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	ACTTCTTCCACGTGCTACGAC	0.567													T	44739829	C	T	44739829	2	4	364	1	0	0	0	0	0	0	0	1	10915	535	19	1		1	OGDH	7	44739829	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2532	44739829	114398834	6001	29503											
OGDH	4967	broad.mit.edu	37	chr7	44746903	44746903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaaaggcttctcttctgCaccggcaaagtgtattatga	11	12	9	9	1	3	1	1	1	2	0	4	1	3	1	1	2	1	4	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44746903C>T	ENST00000222673.5	+	21	2754	c.2712C>T	c.(2710-2712)tgC>tgT	p.C904C	OGDH_ENST00000449767.1_Silent_p.C900C|OGDH_ENST00000439616.2_Silent_p.C754C|OGDH_ENST00000444676.1_Silent_p.C919C|OGDH_ENST00000543843.1_Silent_p.C855C|OGDH_ENST00000447398.1_Silent_p.C915C	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	904					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TTCTCTTCTGCACCGGCAAAG	0.567													T	44746903	C	T	44746903	2	4	364	1	0	0	0	0	0	0	0	1	10915	718	25	2		2	OGDH	7	44746903	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7074	44746903	114391760	6002	29504											
OGDH	4967	broad.mit.edu	37	chr7	44747186	44747186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgtctcctagctgtcGccattcccctttgacctcct	3	14	6	18	1	1	1	0	1	1	0	5	1	3	1	7	0	2	2	7	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44747186G>A	ENST00000222673.5	+	22	2844	c.2802G>A	c.(2800-2802)tcG>tcA	p.S934S	OGDH_ENST00000449767.1_Silent_p.S930S|OGDH_ENST00000439616.2_Silent_p.S784S|OGDH_ENST00000444676.1_Silent_p.S949S|OGDH_ENST00000543843.1_Silent_p.S885S|OGDH_ENST00000447398.1_Silent_p.S945S	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	934					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	CCTAGCTGTCGCCATTCCCCT	0.552													A	44747186	G	A	44747186	2	1	364	1	0	0	0	0	0	0	0	1	10915	1074	38	1		1	OGDH	7	44747186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283	44747186	114391477	6003	29505											
ZMIZ2	83637	broad.mit.edu	37	chr7	44802511	44802511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctgcagctagtgcaccGcccatccgtccgctcggtgc	4	8	12	17	5	0	0	0	0	0	0	3	0	2	0	4	1	5	5	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802511G>A	ENST00000309315.4	+	12	1751	c.1628G>A	c.(1627-1629)cGc>cAc	p.R543H	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R511H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R543H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R517H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R485H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	543					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAGTGCACCGCCCATCCGTC	0.637													A	44802511	G	A	44802511	3	1	364	1	0	0	0	0	1	0	0	0	17798	1087	38	1	1670	1	ZMIZ2	7	44802511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55325	44802511	114336152	6004	29506											
ZMIZ2	83637	broad.mit.edu	37	chr7	44802966	44802966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgccccatcaccttccGcaggatccagctccctgccc	7	7	8	19	1	1	0	1	0	0	0	4	2	4	1	7	1	3	2	7	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:44802966G>A	ENST00000309315.4	+	13	1937	c.1814G>A	c.(1813-1815)cGc>cAc	p.R605H	ZMIZ2_ENST00000433667.1_Missense_Mutation_p.R573H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.R605H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.R579H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.R547H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	605					positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ATCACCTTCCGCAGGATCCAG	0.582													A	44802966	G	A	44802966	3	1	364	1	0	0	0	0	1	0	0	0	17798	1087	38	1	1860	1	ZMIZ2	7	44802966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	455	44802966	114335697	6005	29507											
MYO1G	64005	broad.mit.edu	37	chr7	45005867	45005867	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccatgtgtattcacaGgtcatcttgtacctgtcacc	7	14	9	11	0	4	0	3	0	1	0	4	0	4	0	3	2	1	2	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45005867G>T	ENST00000258787.7	-	16	2098	c.1962C>A	c.(1960-1962)acC>acA	p.T654T		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	654	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTATTCACAGGTCATCTTGT	0.657													T	45005867	G	T	45005867	2	4	364	1	0	0	0	0	0	0	0	1	10150	987	35	4		4	MYO1G	7	45005867	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202901	45005867	114132796	6006	29508											
ADCY1	107	broad.mit.edu	37	chr7	45719377	45719377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgtcctgtacctgcaCatcacccgggtccaggtatg	6	10	11	14	1	1	0	1	0	0	0	3	0	3	0	5	2	2	3	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45719377C>T	ENST00000297323.7	+	11	1990	c.1968C>T	c.(1966-1968)caC>caT	p.H656H		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	656					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TGTACCTGCACATCACCCGGG	0.542													T	45719377	C	T	45719377	2	4	364	1	0	0	0	0	0	0	0	1	292	477	17	2		2	ADCY1	7	45719377	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	713510	45719377	113419286	6007	29509											
ADCY1	107	broad.mit.edu	37	chr7	45724577	45724577	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattaacatttcttattcaGtgttttccagggtgcctgac	10	16	7	8	0	2	1	1	1	1	0	3	1	3	1	2	1	2	1	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:45724577G>A	ENST00000297323.7	+	12	2005		c.e12-1			NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)						activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TTCTTATTCAGTGTTTTCCAG	0.413													A	45724577	G	A	45724577	5	1	364	1	0	0	0	0	0	0	1	0	292	1043	36	2	2029	2	ADCY1	7	45724577	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5200	45724577	113414086	6008	29510											
TNS3	64759	broad.mit.edu	37	chr7	47342575	47342575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggtgaggccgcttctgaagCcttggaaaagtcgggaagga	11	7	16	7	2	1	2	0	2	1	0	2	5	1	5	2	5	1	1	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47342575C>T	ENST00000398879.1	-	22	3796	c.3430G>A	c.(3430-3432)Gct>Act	p.A1144T	TNS3_ENST00000355730.3_Missense_Mutation_p.A904T|TNS3_ENST00000311160.9_Missense_Mutation_p.A1144T			Q68CZ2	TENS3_HUMAN	tensin 3	1144						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						GCTTCTGAAGCCTTGGAAAAG	0.587													T	47342575	C	T	47342575	3	4	364	1	0	0	0	0	1	0	0	0	16444	739	26	2	947	2	TNS3	7	47342575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1617998	47342575	111796088	6009	29511											
TNS3	64759	broad.mit.edu	37	chr7	47384355	47384355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgggtagatttcttaccaCgtcctcctttgtgctgactg	5	14	10	12	3	1	2	0	1	1	1	3	2	3	2	3	1	2	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47384355C>T	ENST00000398879.1	-	20	3014	c.2648G>A	c.(2647-2649)cGt>cAt	p.R883H	TNS3_ENST00000355730.3_Missense_Mutation_p.R643H|TNS3_ENST00000311160.9_Missense_Mutation_p.R883H			Q68CZ2	TENS3_HUMAN	tensin 3	883						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						TTTCTTACCACGTCCTCCTTT	0.582													T	47384355	C	T	47384355	3	4	364	1	0	0	0	0	1	0	0	0	16444	536	19	1	1737	1	TNS3	7	47384355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41780	47384355	111754308	6010	29512											
PKD1L1	168507	broad.mit.edu	37	chr7	47847887	47847887	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgaggtccataaatgctcgGcaaagtcctctgtgaaactg	11	10	11	9	1	1	2	0	2	1	0	4	2	3	2	2	2	2	2	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47847887G>A	ENST00000289672.2	-	52	7835	c.7785C>T	c.(7783-7785)tgC>tgT	p.C2595C	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2595					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TAAATGCTCGGCAAAGTCCTC	0.517													A	47847887	G	A	47847887	2	1	364	1	0	0	0	0	0	0	0	1	12041	1195	42	2		2	PKD1L1	7	47847887	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	463532	47847887	111290776	6011	29513											
PKD1L1	168507	broad.mit.edu	37	chr7	47851554	47851554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaagagttgggttggaGggttatagagagtgaagtgc	10	11	19	1	0	0	4	0	2	0	2	0	6	0	5	0	4	1	3	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47851554G>T	ENST00000289672.2	-	50	7492	c.7442C>A	c.(7441-7443)cCt>cAt	p.P2481H	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2481					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGGGTTGGAGGGTTATAGAG	0.587													T	47851554	G	T	47851554	3	4	364	1	0	0	0	0	1	0	0	0	12041	1000	35	4	1139	4	PKD1L1	7	47851554	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3667	47851554	111287109	6012	29514											
PKD1L1	168507	broad.mit.edu	37	chr7	47869717	47869717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgcacacattgctcctggCcaaacctgcccccagggaaa	11	6	8	16	0	0	0	0	0	0	0	1	1	1	1	5	2	4	2	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47869717C>T	ENST00000289672.2	-	43	6529	c.6479G>A	c.(6478-6480)gGc>gAc	p.G2160D		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2160					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						TTGCTCCTGGCCAAACCTGCC	0.582													T	47869717	C	T	47869717	3	4	364	1	0	0	0	0	1	0	0	0	12041	739	26	2	2130	2	PKD1L1	7	47869717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18163	47869717	111268946	6013	29515											
PKD1L1	168507	broad.mit.edu	37	chr7	47894786	47894786	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccaaactcgaccatcacGggtttccttagccattgcct	8	11	6	16	2	1	0	1	0	0	0	4	1	3	0	6	1	3	1	6	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47894786G>A	ENST00000289672.2	-	29	4718	c.4668C>T	c.(4666-4668)ccC>ccT	p.P1556P		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1556	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						CGACCATCACGGGTTTCCTTA	0.488													A	47894786	G	A	47894786	2	1	364	1	0	0	0	0	0	0	0	1	12041	1103	39	1		1	PKD1L1	7	47894786	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25069	47894786	111243877	6014	29516											
PKD1L1	168507	broad.mit.edu	37	chr7	47925295	47925295	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttaccagagaggtgaGggtcagggctgtgggtgggc	7	7	20	7	0	1	2	1	1	0	1	1	3	1	2	1	6	1	2	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:47925295G>T	ENST00000289672.2	-	18	3244	c.3194C>A	c.(3193-3195)cCt>cAt	p.P1065H		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1065	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AGAGAGGTGAGGGTCAGGGCT	0.557													T	47925295	G	T	47925295	3	4	364	1	0	0	0	0	1	0	0	0	12041	1000	35	4	5515	4	PKD1L1	7	47925295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30509	47925295	111213368	6015	29517											
HUS1	3364	broad.mit.edu	37	chr7	48016412	48016412	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgtcatgggtcacaatgCggctactgcttgacatagat	10	11	12	8	1	2	2	2	1	0	1	2	3	2	3	0	3	3	2	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48016412C>T	ENST00000258774.5	-	4	403	c.380G>A	c.(379-381)cGc>cAc	p.R127H	HUS1_ENST00000432325.1_Missense_Mutation_p.R106H	NM_004507.3	NP_004498.1	O60921	HUS1_HUMAN	HUS1 checkpoint homolog (S. pombe)	127					DNA damage checkpoint|DNA replication	Golgi apparatus|nucleolus|nucleoplasm	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|prostate(1)	13		Breast(660;0.00139)				GGTCACAATGCGGCTACTGCT	0.418								Direct reversal of damage;Other conserved DNA damage response genes					T	48016412	C	T	48016412	3	4	364	1	0	0	0	0	1	0	0	0	7517	768	27	1	482	1	HUS1	7	48016412	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91117	48016412	111122251	6016	29518											
SUN3	256979	broad.mit.edu	37	chr7	48068486	48068486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccgctggcgtcttcagagCaacgtctaaaaaacatggca	13	8	9	11	3	3	1	1	0	2	1	3	1	3	1	1	2	4	3	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48068486C>T	ENST00000297325.4	-	1	209	c.50G>A	c.(49-51)tGc>tAc	p.C17Y	SUN3_ENST00000453192.2_5'UTR|SUN3_ENST00000412142.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.C17Y	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	17						integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTCTTCAGAGCAACGTCTAAA	0.483													T	48068486	C	T	48068486	3	4	364	1	0	0	0	0	1	0	0	0	15489	710	25	2	1063	2	SUN3	7	48068486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52074	48068486	111070177	6017	29519											
UPP1	7378	broad.mit.edu	37	chr7	48139382	48139382	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccttgtttggagatgtgAaggtaagaggccaggtgttg	9	11	16	5	0	0	3	0	1	0	2	0	4	0	3	2	4	1	3	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48139382A>C	ENST00000331803.4	+	5	783	c.160A>C	c.(160-162)Aag>Cag	p.K54Q	UPP1_ENST00000341253.4_Missense_Mutation_p.K54Q|UPP1_ENST00000482015.1_Intron|UPP1_ENST00000395564.4_Missense_Mutation_p.K54Q|UPP1_ENST00000429491.2_Intron			Q16831	UPP1_HUMAN	uridine phosphorylase 1	54					nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage	cytosol	uridine phosphorylase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	18						TGGAGATGTGAAGGTAAGAGG	0.403													C	48139382	A	C	48139382	3	2	364	1	0	0	0	0	1	0	0	0	17114	247	9	5	166	5	UPP1	7	48139382	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	70896	48139382	110999281	6018	29520											
ABCA13	154664	broad.mit.edu	37	chr7	48280594	48280594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtggaagctctgcacaCtgcactgctcctgctgaatg	7	10	13	11	0	1	1	0	1	1	0	2	2	2	2	1	3	5	5	1	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48280594C>T	ENST00000435803.1	+	10	1217	c.1193C>T	c.(1192-1194)aCt>aTt	p.T398I		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	398					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCTCTGCACACTGCACTGCTC	0.473													T	48280594	C	T	48280594	3	4	364	1	0	0	0	0	1	0	0	0	31	565	20	2	1060	2	ABCA13	7	48280594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141212	48280594	110858069	6019	29521											
ABCA13	154664	broad.mit.edu	37	chr7	48312581	48312581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttcggacaataaacaCatttcttccgtaaattattc	13	16	4	8	2	1	1	0	1	1	0	4	2	2	2	1	1	1	1	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48312581C>T	ENST00000435803.1	+	17	3342	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1106					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ACAATAAACACATTTCTTCCG	0.318													T	48312581	C	T	48312581	2	4	364	1	0	0	0	0	0	0	0	1	31	477	17	2		2	ABCA13	7	48312581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31987	48312581	110826082	6020	29522											
ABCA13	154664	broad.mit.edu	37	chr7	48313911	48313911	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcttcatttaataacaCtggggaaggaatttcagaag	13	13	10	5	0	2	1	2	0	0	1	2	3	2	3	0	4	1	1	0	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48313911C>T	ENST00000435803.1	+	17	4672	c.4648C>T	c.(4648-4650)Ctg>Ttg	p.L1550L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1550					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAATAACACTGGGGAAGGA	0.299													T	48313911	C	T	48313911	2	4	364	1	0	0	0	0	0	0	0	1	31	564	20	2		2	ABCA13	7	48313911	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1330	48313911	110824752	6021	29523											
ABCA13	154664	broad.mit.edu	37	chr7	48314705	48314705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccagatattatttcagaGgctttagcttgttttcctgt	9	17	8	7	0	1	2	1	0	0	2	2	2	2	2	2	1	2	3	2	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48314705G>T	ENST00000435803.1	+	17	5466	c.5442G>T	c.(5440-5442)gaG>gaT	p.E1814D		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1814					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTATTTCAGAGGCTTTAGCTT	0.373													T	48314705	G	T	48314705	3	4	364	1	0	0	0	0	1	0	0	0	31	991	35	4	5337	4	ABCA13	7	48314705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	794	48314705	110823958	6022	29524											
ABCA13	154664	broad.mit.edu	37	chr7	48315032	48315032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaattttggcataaGatattaccgtttgtcccacc	11	13	8	9	1	0	2	0	0	0	2	1	2	1	2	3	1	2	3	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48315032G>T	ENST00000435803.1	+	17	5793	c.5769G>T	c.(5767-5769)aaG>aaT	p.K1923N		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1923					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCATAAGATATTACCGT	0.378													T	48315032	G	T	48315032	3	4	364	1	0	0	0	0	1	0	0	0	31	933	33	4	5664	4	ABCA13	7	48315032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	48315032	110823631	6023	29525											
ABCA13	154664	broad.mit.edu	37	chr7	48319206	48319206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgacacacctttgagtcaGaatataactcatcatcaact	14	13	4	10	0	4	3	4	2	0	1	4	3	4	3	1	0	2	0	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48319206G>T	ENST00000435803.1	+	18	8439	c.8415G>T	c.(8413-8415)caG>caT	p.Q2805H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2805					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CTTTGAGTCAGAATATAACTC	0.328													T	48319206	G	T	48319206	3	4	364	1	0	0	0	0	1	0	0	0	31	933	33	4	8314	4	ABCA13	7	48319206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4174	48319206	110819457	6024	29526											
ABCA13	154664	broad.mit.edu	37	chr7	48634360	48634360	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcggtacctgtggcaaacaAtaatgaaggaggttcgggaa	14	7	14	6	2	0	1	0	1	0	0	1	3	0	3	1	5	3	3	1	5	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48634360A>G	ENST00000435803.1	+	58	14719	c.14695A>G	c.(14695-14697)Ata>Gta	p.I4899V	ABCA13_ENST00000544596.1_Missense_Mutation_p.I629V	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4899	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGGCAAACAATAATGAAGGA	0.483													G	48634360	A	G	48634360	3	3	364	1	0	0	0	0	1	0	0	0	31	101	4	3	14754	3	ABCA13	7	48634360	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	315154	48634360	110504303	6025	29527											
ABCA13	154664	broad.mit.edu	37	chr7	48684218	48684218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttgcttttagggacaGcacctgaatttattagaata	11	18	7	5	0	0	2	0	1	0	1	0	3	0	3	1	1	2	2	1	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:48684218G>T	ENST00000435803.1	+	61	14973	c.14949G>T	c.(14947-14949)caG>caT	p.Q4983H	ABCA13_ENST00000544596.1_Missense_Mutation_p.Q713H	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4983					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTAGGGACAGCACCTGAATT	0.279													T	48684218	G	T	48684218	3	4	364	1	0	0	0	0	1	0	0	0	31	962	34	4	15020	4	ABCA13	7	48684218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49858	48684218	110454445	6026	29528											
FIGNL1	63979	broad.mit.edu	37	chr7	50513423	50513423	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgaactaaaaattctgtTtttatccttctagaagattc	14	17	4	6	0	2	3	0	1	2	2	4	3	3	3	1	0	1	1	1	0	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50513423T>G	ENST00000419119.1	-	2	3116	c.1563A>C	c.(1561-1563)aaA>aaC	p.K521N	FIGNL1_ENST00000356889.4_Missense_Mutation_p.K521N|FIGNL1_ENST00000433017.1_Missense_Mutation_p.K521N|FIGNL1_ENST00000395556.2_Missense_Mutation_p.K521N			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	521					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				AAAATTCTGTTTTTATCCTTC	0.403													G	50513423	T	G	50513423	3	3	364	1	0	0	0	0	1	0	0	0	5941	1838	64	5	465	5	FIGNL1	7	50513423	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1829205	50513423	108625240	6027	29529											
DDC	1644	broad.mit.edu	37	chr7	50530956	50530956	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgctcgcagcacgtcGgccgccagctctttgatgtg	4	11	11	15	4	2	1	0	1	2	0	5	1	2	1	2	1	3	4	2	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530956G>A	ENST00000444124.2	-	14	1616	c.1416C>T	c.(1414-1416)gcC>gcT	p.A472A	DDC_ENST00000426377.1_Silent_p.A394A|DDC_ENST00000357936.5_Silent_p.A472A|DDC_ENST00000431062.1_Silent_p.A379A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	472					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GCAGCACGTCGGCCGCCAGCT	0.597													A	50530956	G	A	50530956	2	1	364	1	0	0	0	0	0	0	0	1	4359	1103	39	1		1	DDC	7	50530956	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17533	50530956	108607707	6028	29530											
DDC	1644	broad.mit.edu	37	chr7	50530983	50530983	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctctttgatgtgttcccaGgcccgctgcacatgggcaga	7	10	12	12	1	1	2	0	1	1	1	2	2	2	2	2	2	2	5	2	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:50530983G>T	ENST00000444124.2	-	14	1589	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	DDC_ENST00000426377.1_Silent_p.A385A|DDC_ENST00000357936.5_Silent_p.A463A|DDC_ENST00000431062.1_Silent_p.A370A	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	463					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	TGTGTTCCCAGGCCCGCTGCA	0.577													T	50530983	G	T	50530983	2	4	364	1	0	0	0	0	0	0	0	1	4359	987	35	4		4	DDC	7	50530983	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	50530983	108607680	6029	29531											
COBL	23242	broad.mit.edu	37	chr7	51095461	51095461	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcttccatcagggcaGagtgcagggatgtgtctttt	7	12	15	7	0	2	1	1	0	1	1	3	3	3	3	1	4	1	3	1	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095461G>T	ENST00000395542.2	-	12	3762	c.3578C>A	c.(3577-3579)tCt>tAt	p.S1193Y	COBL_ENST00000265136.7_Missense_Mutation_p.S1111Y			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	1111										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CATCAGGGCAGAGTGCAGGGA	0.542													T	51095461	G	T	51095461	3	4	364	1	0	0	0	0	1	0	0	0	3684	942	33	4	469	4	COBL	7	51095461	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	564478	51095461	108043202	6030	29532											
COBL	23242	broad.mit.edu	37	chr7	51095935	51095935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtgtgggccaatgaccTcccccctaggaggggctccc	5	8	12	16	0	0	1	0	1	0	0	3	2	3	2	7	4	0	1	7	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51095935T>C	ENST00000395542.2	-	12	3288	c.3104A>G	c.(3103-3105)gAg>gGg	p.E1035G	COBL_ENST00000265136.7_Missense_Mutation_p.E953G			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	953										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GCCAATGACCTCCCCCCTAGG	0.567													C	51095935	T	C	51095935	3	2	364	1	0	0	0	0	1	0	0	0	3684	1551	54	3	943	3	COBL	7	51095935	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	474	51095935	108042728	6031	29533											
COBL	23242	broad.mit.edu	37	chr7	51096641	51096641	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatctctgtcgtaacatcGcatctctgactttggaggaa	10	12	8	11	2	2	1	0	1	2	0	6	3	2	3	0	2	1	2	0	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51096641G>A	ENST00000395542.2	-	12	2582	c.2398C>T	c.(2398-2400)Cga>Tga	p.R800*	COBL_ENST00000265136.7_Nonsense_Mutation_p.R718*			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	718								p.R718*(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TCGTAACATCGCATCTCTGAC	0.507													A	51096641	G	A	51096641	4	1	364	1	0	0	0	0	0	1	0	0	3684	1095	38	1	1649	1	COBL	7	51096641	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	706	51096641	108042022	6032	29534											
COBL	23242	broad.mit.edu	37	chr7	51152918	51152918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggttggggatcaggggActcggtggtggtggctgtgg	3	10	23	5	2	1	0	1	0	0	0	2	2	1	2	0	10	1	2	0	10	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:51152918A>G	ENST00000395542.2	-	8	1300	c.1116T>C	c.(1114-1116)agT>agC	p.S372S	COBL_ENST00000265136.7_Silent_p.S347S|COBL_ENST00000395540.2_Silent_p.S347S|COBL_ENST00000441453.1_Silent_p.S347S			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	311										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					GGATCAGGGGACTCGGTGGTG	0.572													G	51152918	A	G	51152918	2	3	364	1	0	0	0	0	0	0	0	1	3684	272	10	3		3	COBL	7	51152918	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56277	51152918	107985745	6033	29535											
POM121L12	285877	broad.mit.edu	37	chr7	53103889	53103889	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcctggacccctgcacccgGgagactctgctgggggcgct	4	7	14	16	2	1	1	0	0	1	1	2	3	2	2	4	4	2	3	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:53103889G>T	ENST00000408890.4	+	1	541	c.525G>T	c.(523-525)cgG>cgT	p.R175R		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	175										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCTGCACCCGGGAGACTCTGC	0.716													T	53103889	G	T	53103889	2	4	364	1	0	0	0	0	0	0	0	1	12318	1219	43	4		4	POM121L12	7	53103889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1950971	53103889	106034774	6034	29536											
VSTM2A	222008	broad.mit.edu	37	chr7	54612359	54612359	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgacggcgaccgaggggCagaatgtggagatgtcctgc	9	6	17	9	4	0	3	0	1	0	2	1	6	1	3	2	4	1	1	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:54612359C>T	ENST00000302287.3	+	2	530	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	VSTM2A_ENST00000404951.1_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402613.3_Nonsense_Mutation_p.Q42*|VSTM2A_ENST00000402026.2_Nonsense_Mutation_p.Q41*|VSTM2A_ENST00000407838.3_Nonsense_Mutation_p.Q42*			Q8TAG5	VTM2A_HUMAN	V-set and transmembrane domain containing 2A	42	Ig-like V-type.					extracellular region				endometrium(1)|large_intestine(2)|lung(12)|prostate(1)	16			STAD - Stomach adenocarcinoma(5;0.0525)			GACCGAGGGGCAGAATGTGGA	0.592													T	54612359	C	T	54612359	4	4	364	1	0	0	0	0	0	1	0	0	17331	711	25	2	130	2	VSTM2A	7	54612359	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1508470	54612359	104526304	6035	29537											
EGFR	1956	broad.mit.edu	37	chr7	55210006	55210006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcacgagtaacaagctcaCgcagttgggcacttttgaag	12	8	12	9	2	1	1	1	1	0	0	1	2	1	1	0	2	2	6	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55210006C>T	ENST00000275493.2	+	2	293	c.116C>T	c.(115-117)aCg>aTg	p.T39M	EGFR_ENST00000344576.2_Missense_Mutation_p.T39M|EGFR_ENST00000455089.1_Missense_Mutation_p.T39M|EGFR_ENST00000342916.3_Missense_Mutation_p.T39M|EGFR_ENST00000420316.2_Missense_Mutation_p.T39M|EGFR_ENST00000442591.1_Missense_Mutation_p.T39M|EGFR_ENST00000454757.2_5'UTR	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	39					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AACAAGCTCACGCAGTTGGGC	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55210006	C	T	55210006	3	4	364	1	0	0	0	0	1	0	0	0	5006	536	19	1	122	1	EGFR	7	55210006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	597647	55210006	103928657	6036	29538											
EGFR	1956	broad.mit.edu	37	chr7	55233088	55233088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtctggaagtacgcagacgCcggccatgtgtgccacctgt	7	8	14	12	3	1	1	0	0	1	1	1	2	1	2	4	3	2	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55233088C>T	ENST00000275493.2	+	15	2015	c.1838C>T	c.(1837-1839)gCc>gTc	p.A613V	EGFR_ENST00000344576.2_Missense_Mutation_p.A613V|EGFR_ENST00000455089.1_Missense_Mutation_p.A568V|EGFR_ENST00000342916.3_Missense_Mutation_p.A613V|EGFR_ENST00000442591.1_Missense_Mutation_p.A613V|EGFR_ENST00000454757.2_Missense_Mutation_p.A560V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	613					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TACGCAGACGCCGGCCATGTG	0.542		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233088	C	T	55233088	3	4	364	1	0	0	0	0	1	0	0	0	5006	739	26	2	1907	2	EGFR	7	55233088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23082	55233088	103905575	6037	29539											
EGFR	1956	broad.mit.edu	37	chr7	55238146	55238146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcccttctcttctgcCgtcagagtttcagctgggtt	5	15	10	11	1	4	1	2	0	2	1	6	2	5	2	2	2	2	3	2	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55238146C>T	ENST00000344576.2	+	16	2272	c.2027C>T	c.(2026-2028)cCg>cTg	p.P676L	EGFR_ENST00000455089.1_Intron|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Intron|EGFR_ENST00000275493.2_Intron	NM_201284.1	NP_958441.1	P00533	EGFR_HUMAN	epidermal growth factor receptor	0					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TCTCTTCTGCCGTCAGAGTTT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55238146	C	T	55238146	3	4	364	1	0	0	0	0	1	0	0	0	5006	652	23	1	2111	1	EGFR	7	55238146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5058	55238146	103900517	6038	29540											
LANCL2	55915	broad.mit.edu	37	chr7	55466181	55466181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctacctgctccgatccCtggattacgtaaaaagaaca	15	8	6	12	2	0	1	0	0	0	1	2	3	2	2	4	1	5	2	4	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55466181C>A	ENST00000254770.2	+	3	966	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	LANCL2_ENST00000486376.1_3'UTR	NM_018697.3	NP_061167.1	Q9NS86	LANC2_HUMAN	LanC lantibiotic synthetase component C-like 2 (bacterial)	130					negative regulation of transcription, DNA-dependent|positive regulation of abscisic acid mediated signaling pathway	cortical actin cytoskeleton|cytosol|nucleus|plasma membrane	ATP binding|catalytic activity|GTP binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4-phosphate binding|phosphatidylinositol-5-phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	25	Breast(14;0.0379)		Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00128)|Epithelial(13;0.0706)			GCTCCGATCCCTGGATTACGT	0.502													A	55466181	C	A	55466181	3	1	364	1	0	0	0	0	1	0	0	0	8680	680	24	4	398	4	LANCL2	7	55466181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228035	55466181	103672482	6039	29541											
SEPT14	346288	broad.mit.edu	37	chr7	55910781	55910781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagttcttcttgaagataggCctcaaattgggcatctatgt	10	14	9	8	0	4	2	1	1	3	1	4	2	4	2	1	2	0	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55910781C>T	ENST00000388975.3	-	5	528	c.412G>A	c.(412-414)Gcc>Acc	p.A138T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	138					cell cycle|cell division	septin complex	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAAGATAGGCCTCAAATTGG	0.358													T	55910781	C	T	55910781	3	4	364	1	0	0	0	0	1	0	0	0	14156	739	26	2	910	2	SEPT14	7	55910781	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444600	55910781	103227882	6040	29542											
SEPT14	346288	broad.mit.edu	37	chr7	55914312	55914312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaatcgtagttaaacaacGaatattattttctttttgct	12	18	4	7	2	1	0	0	0	1	0	3	1	2	0	1	0	3	3	1	0	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:55914312G>A	ENST00000388975.3	-	3	189	c.73C>T	c.(73-75)Cgt>Tgt	p.R25C	SEPT14_ENST00000477628.1_5'UTR	NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	25					cell cycle|cell division	septin complex	GTP binding|protein binding	p.R25C(2)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTTAAACAACGAATATTATTT	0.284													A	55914312	G	A	55914312	3	1	364	1	0	0	0	0	1	0	0	0	14156	1058	37	1	1257	1	SEPT14	7	55914312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3531	55914312	103224351	6041	29543											
CCT6A	908	broad.mit.edu	37	chr7	56127304	56127304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtcctgactgcttgggaCatgcaggacttgtatatgag	10	12	12	7	0	0	2	0	2	0	0	1	4	1	4	1	2	2	3	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56127304C>T	ENST00000275603.4	+	9	1255	c.1036C>T	c.(1036-1038)Cat>Tat	p.H346Y	CCT6A_ENST00000540286.1_Missense_Mutation_p.H315Y|CCT6A_ENST00000335503.3_Missense_Mutation_p.H301Y	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	346					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTGCTTGGGACATGCAGGACT	0.383													T	56127304	C	T	56127304	3	4	364	1	0	0	0	0	1	0	0	0	2987	478	17	2	1070	2	CCT6A	7	56127304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212992	56127304	103011359	6042	29544											
SUMF2	25870	broad.mit.edu	37	chr7	56140721	56140721	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaaaagtatcggacaGaagctgagatgtttggatgg	14	8	16	3	1	0	3	0	1	0	3	1	7	0	5	0	4	1	3	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56140721G>T	ENST00000434526.2	+	3	344	c.313G>T	c.(313-315)Gaa>Taa	p.E105*	SUMF2_ENST00000395435.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.E105*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.E105*|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.E86*|SUMF2_ENST00000275607.9_5'UTR|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.E86*	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	86						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTATCGGACAGAAGCTGAGAT	0.483													T	56140721	G	T	56140721	4	4	364	1	0	0	0	0	0	1	0	0	15482	943	33	4	323	4	SUMF2	7	56140721	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13417	56140721	102997942	6043	29545											
SUMF2	25870	broad.mit.edu	37	chr7	56141896	56141896	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcttccagtggaaaaGgcattttggaggcaggtaag	10	10	16	5	0	0	0	0	0	0	0	1	2	1	2	1	7	0	4	1	7	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56141896G>T	ENST00000434526.2	+	4	457	c.426G>T	c.(424-426)aaG>aaT	p.K142N	SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000342190.6_Missense_Mutation_p.K142N|SUMF2_ENST00000395436.2_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.K123N|SUMF2_ENST00000275607.9_Missense_Mutation_p.K35N|SUMF2_ENST00000413756.1_Missense_Mutation_p.K123N	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	123						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAGTGGAAAAGGCATTTTGGA	0.552											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56141896	G	T	56141896	3	4	364	1	0	0	0	0	1	0	0	0	15482	991	35	4	440	4	SUMF2	7	56141896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1175	56141896	102996767	6044	29546											
SUMF2	25870	broad.mit.edu	37	chr7	56145875	56145875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttccccgcccagaacaaCtacggtaagagctgtcttgg	9	9	10	13	2	1	2	0	0	1	2	2	2	2	2	3	2	4	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56145875C>T	ENST00000434526.2	+	7	760	c.729C>T	c.(727-729)aaC>aaT	p.N243N	SUMF2_ENST00000395435.2_Silent_p.N159N|SUMF2_ENST00000342190.6_Silent_p.N243N|SUMF2_ENST00000395436.2_Silent_p.N228N|SUMF2_ENST00000437307.2_Silent_p.N155N|SUMF2_ENST00000275607.9_Silent_p.N136N|SUMF2_ENST00000413756.1_Silent_p.N224N	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	224						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CCCAGAACAACTACGGTAAGA	0.567													T	56145875	C	T	56145875	2	4	364	1	0	0	0	0	0	0	0	1	15482	564	20	2		2	SUMF2	7	56145875	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3979	56145875	102992788	6045	29547											
PHKG1	5260	broad.mit.edu	37	chr7	56148787	56148787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggagaggagcacggccttgGgtgtgttctcgaaaagggct	8	8	18	7	2	1	1	0	0	1	1	2	4	1	2	1	5	1	3	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56148787G>A	ENST00000452681.2	-	11	1369	c.1220C>T	c.(1219-1221)cCc>cTc	p.P407L	PHKG1_ENST00000297373.2_Missense_Mutation_p.P375L|PHKG1_ENST00000537360.1_Missense_Mutation_p.P321L	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	375					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CACGGCCTTGGGTGTGTTCTC	0.637													A	56148787	G	A	56148787	3	1	364	1	0	0	0	0	1	0	0	0	11923	1232	43	2	43	2	PHKG1	7	56148787	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2912	56148787	102989876	6046	29548											
PHKG1	5260	broad.mit.edu	37	chr7	56151049	56151049	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgttgtcatccaagaGaatgttctcgggcttcaggt	8	14	11	8	1	4	1	3	0	1	1	6	2	5	1	1	2	0	4	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56151049G>T	ENST00000452681.2	-	7	714	c.565C>A	c.(565-567)Ctc>Atc	p.L189I	PHKG1_ENST00000297373.2_Missense_Mutation_p.L157I|PHKG1_ENST00000537360.1_Missense_Mutation_p.L103I	NM_001258459.1	NP_001245388.1	Q16816	PHKG1_HUMAN	phosphorylase kinase, gamma 1 (muscle)	157	Protein kinase.				glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	ATP binding|calmodulin binding|phosphorylase kinase activity			endometrium(1)|large_intestine(1)|lung(5)	7	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCATCCAAGAGAATGTTCTCG	0.552													T	56151049	G	T	56151049	3	4	364	1	0	0	0	0	1	0	0	0	11923	942	33	4	714	4	PHKG1	7	56151049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2262	56151049	102987614	6047	29549											
CHCHD2	51142	broad.mit.edu	37	chr7	56171941	56171941	+	Missense_Mutation	SNP	G	G	A																															ggtaagtgatgtcaggcctcGcaggctcagcattacttcct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171941G>A	ENST00000395422.3	-	2	440	c.278C>T	c.(277-279)gCg>gTg	p.A93V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	93						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			GTCAGGCCTCGCAGGCTCAGC	0.532													A	56171941	G	A	56171941	3	1	364	1	0	0	0	0	1	0	0	0	3346	1087	38	1	189	1	CHCHD2	7	56171941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20892	56171941	102966722	6048	29550	68	2									
CHCHD2	51142	broad.mit.edu	37	chr7	56171950	56171950	+	Missense_Mutation	SNP	G	G	A																															tgtcaggcctcgcaggctcaGcattacttcctccactgaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:56171950G>A	ENST00000395422.3	-	2	431	c.269C>T	c.(268-270)gCt>gTt	p.A90V		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	90						mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CGCAGGCTCAGCATTACTTCC	0.547													A	56171950	G	A	56171950	3	1	364	1	0	0	0	0	1	0	0	0	3346	971	34	2	198	2	CHCHD2	7	56171950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	56171950	102966713	6049	29551	68	2									
ZNF479	90827	broad.mit.edu	37	chr7	57188713	57188713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actataacctcccttgtgcaCctcatattcacccacacttt	10	13	2	16	0	2	0	2	0	0	0	3	0	3	0	4	0	2	1	4	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:57188713C>A	ENST00000331162.4	-	5	679	c.409G>T	c.(409-411)Gtg>Ttg	p.V137L		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CCCTTGTGCACCTCATATTCA	0.318													A	57188713	C	A	57188713	3	1	364	1	0	0	0	0	1	0	0	0	18034	507	18	4	1169	4	ZNF479	7	57188713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1016763	57188713	101949950	6050	29552											
ZNF107	51427	broad.mit.edu	37	chr7	64168631	64168631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcctttaactgctcctcaaCccttaatagacataagataa	15	11	4	11	0	1	2	1	0	0	2	2	2	2	2	3	0	4	1	3	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64168631C>T	ENST00000395391.1	+	4	3324	c.1949C>T	c.(1948-1950)aCc>aTc	p.T650I	ZNF107_ENST00000344930.3_Missense_Mutation_p.T650I|ZNF107_ENST00000423627.1_Missense_Mutation_p.T650I			Q9UII5	ZN107_HUMAN	zinc finger protein 107	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				TGCTCCTCAACCCTTAATAGA	0.373													T	64168631	C	T	64168631	3	4	364	1	0	0	0	0	1	0	0	0	17816	507	18	2	1955	2	ZNF107	7	64168631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6979918	64168631	94970032	6051	29553											
ZNF117	51351	broad.mit.edu	37	chr7	64441793	64441793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagctaccatctcatgtctCttcatattccagggctcttt	7	17	5	12	0	4	0	2	0	3	0	7	0	5	0	2	1	2	2	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:64441793C>T	ENST00000282869.6	-	3	1290	c.6G>A	c.(4-6)aaG>aaA	p.K2K		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TCTCATGTCTCTTCATATTCC	0.403													T	64441793	C	T	64441793	2	4	364	1	0	0	0	0	0	0	0	1	17818	912	32	2		2	ZNF117	7	64441793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	273162	64441793	94696870	6052	29554											
GUSB	2990	broad.mit.edu	37	chr7	65432799	65432799	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttataccagttctcaaaCtgggtggccagctgcagctg	8	12	10	11	0	2	0	1	0	2	0	3	0	2	0	2	2	5	4	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65432799C>A	ENST00000304895.4	-	10	1702	c.1572G>T	c.(1570-1572)caG>caT	p.Q524H	GUSB_ENST00000345660.6_Missense_Mutation_p.Q473H|GUSB_ENST00000421103.1_Missense_Mutation_p.Q378H	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	524					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						AGTTCTCAAACTGGGTGGCCA	0.483													A	65432799	C	A	65432799	3	1	364	1	0	0	0	0	1	0	0	0	6957	564	20	4	395	4	GUSB	7	65432799	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	991006	65432799	93705864	6053	29555											
GUSB	2990	broad.mit.edu	37	chr7	65435343	65435343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaggatttggtgtgagCgatcaccatcctgtccacaa	10	10	10	11	1	1	1	1	1	0	0	4	3	4	2	4	2	1	0	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65435343C>T	ENST00000304895.4	-	9	1532	c.1402G>A	c.(1402-1404)Gct>Act	p.A468T	GUSB_ENST00000345660.6_Missense_Mutation_p.A417T|GUSB_ENST00000421103.1_Missense_Mutation_p.A322T	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	468					glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						TTGGTGTGAGCGATCACCATC	0.572													T	65435343	C	T	65435343	3	4	364	1	0	0	0	0	1	0	0	0	6957	768	27	1	569	1	GUSB	7	65435343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2544	65435343	93703320	6054	29556											
ASL	435	broad.mit.edu	37	chr7	65554633	65554633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgaagtgtcagacaCtatgagtgccgtgctccagg	8	12	13	8	1	1	3	1	2	0	1	2	3	2	3	2	1	2	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65554633C>A	ENST00000304874.9	+	14	1115	c.1013C>A	c.(1012-1014)aCt>aAt	p.T338N	ASL_ENST00000395332.3_Missense_Mutation_p.T338N|ASL_ENST00000464970.1_3'UTR|ASL_ENST00000395331.3_Missense_Mutation_p.T318N|AC068533.7_ENST00000450043.1_Missense_Mutation_p.H106Q|ASL_ENST00000380839.4_Missense_Mutation_p.T312N	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	338					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GTGTCAGACACTATGAGTGCC	0.637													A	65554633	C	A	65554633	3	1	364	1	0	0	0	0	1	0	0	0	1049	565	20	4	1063	4	ASL	7	65554633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119290	65554633	93584030	6055	29557											
TPST1	8460	broad.mit.edu	37	chr7	65751514	65751514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagagtggagagatctacaGaccaagtaatcaagccagtc	15	7	10	9	0	3	3	2	0	1	3	4	5	3	4	2	1	2	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65751514G>A	ENST00000304842.5	+	3	1287	c.862G>A	c.(862-864)Gac>Aac	p.D288N	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	288					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						GAGATCTACAGACCAAGTAAT	0.323													A	65751514	G	A	65751514	3	1	364	1	0	0	0	0	1	0	0	0	16528	942	33	2	868	2	TPST1	7	65751514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196881	65751514	93387149	6056	29558											
TPST1	8460	broad.mit.edu	37	chr7	65817504	65817504	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccaggtctataagggaGaattccaactacctgacttt	11	14	7	9	0	1	2	0	1	1	1	3	3	3	2	3	2	2	0	3	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:65817504G>T	ENST00000304842.5	+	4	1482	c.1057G>T	c.(1057-1059)Gaa>Taa	p.E353*	TPST1_ENST00000480281.1_3'UTR	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	353					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTATAAGGGAGAATTCCAACT	0.453													T	65817504	G	T	65817504	4	4	364	1	0	0	0	0	0	1	0	0	16528	943	33	4	1067	4	TPST1	7	65817504	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65990	65817504	93321159	6057	29559											
KCTD7	154881	broad.mit.edu	37	chr7	66104046	66104046	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtggatgtgtcttttGggccctgggaggctgtggct	4	13	18	6	0	1	1	0	1	1	0	1	3	1	3	1	5	0	2	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66104046G>T	ENST00000275532.3	+	4	881	c.697G>T	c.(697-699)Ggg>Tgg	p.G233W	KCTD7_ENST00000443322.1_Missense_Mutation_p.G233W	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	233						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						TGTGTCTTTTGGGCCCTGGGA	0.597													T	66104046	G	T	66104046	3	4	364	1	0	0	0	0	1	0	0	0	8172	1348	47	4	711	4	KCTD7	7	66104046	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	286542	66104046	93034617	6058	29560											
KCTD7	154881	broad.mit.edu	37	chr7	66248680	66248680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaattcaggaagcaaaagCtcccagtccttccataaacc	16	7	6	12	0	1	1	1	0	0	1	4	2	4	2	4	1	3	2	4	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66248680C>T	ENST00000380828.2	+	6	639	c.485C>T	c.(484-486)gCt>gTt	p.A162V	RABGEF1_ENST00000439720.2_Missense_Mutation_p.A135V|RABGEF1_ENST00000437078.2_Missense_Mutation_p.A136V|RABGEF1_ENST00000284957.5_Missense_Mutation_p.A122V|KCTD7_ENST00000451741.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000510829.2_Missense_Mutation_p.A122V|RABGEF1_ENST00000450873.2_Missense_Mutation_p.A122V			Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	0						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GAAGCAAAAGCTCCCAGTCCT	0.388													T	66248680	C	T	66248680	3	4	364	1	0	0	0	0	1	0	0	0	8172	797	28	2		2	KCTD7	7	66248680	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144634	66248680	92889983	6059	29561											
SBDS	51119	broad.mit.edu	37	chr7	66458363	66458363	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgctccagttgtgtgtgTctttctttatctgatacttg	5	20	8	8	0	4	1	0	1	4	0	5	1	5	1	1	0	2	2	1	0	2	6	rs113993994		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66458363T>C	ENST00000246868.2	-	3	483	c.300A>G	c.(298-300)agA>agG	p.R100R		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	100					bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GTTGTGTGTGTCTTTCTTTAT	0.353			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				C	66458363	T	C	66458363	2	2	364	1	0	0	0	0	0	0	0	1	13949	1664	58	3		3	SBDS	7	66458363	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	209683	66458363	92680300	6060	29562											
SBDS	51119	broad.mit.edu	37	chr7	66459326	66459326	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttcatcgaggtcttttTcccttgtgagggcaggagag	8	12	13	8	1	2	2	1	1	1	1	4	5	3	2	1	3	1	1	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66459326T>C	ENST00000246868.2	-	2	314	c.131A>G	c.(130-132)gAa>gGa	p.E44G		NM_016038.2	NP_057122.2	Q9Y3A5	SBDS_HUMAN	Shwachman-Bodian-Diamond syndrome	44			E -> G (in SDS).		bone marrow development|bone mineralization|leukocyte chemotaxis|mature ribosome assembly|mitotic spindle stabilization|positive regulation of translation|ribosomal large subunit biogenesis|rRNA processing	cytoplasm|nucleolus|nucleoplasm|spindle pole	microtubule binding|ribosome binding|rRNA binding			cervix(1)|endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7						GAGGTCTTTTTCCCTTGTGAG	0.413			Gene Conversion			"AML, MDS"			Shwachman-Diamond syndrome				C	66459326	T	C	66459326	3	2	364	1	0	0	0	0	1	0	0	0	13949	1783	62	3	637	3	SBDS	7	66459326	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	963	66459326	92679337	6061	29563											
TYW1	55253	broad.mit.edu	37	chr7	66463908	66463908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttgtgtctggagtgaaGattttttatggttctcagac	8	18	10	5	0	3	3	1	1	3	2	4	4	3	4	0	2	0	1	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66463908G>T	ENST00000359626.5	+	3	404	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	80	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTGGAGTGAAGATTTTTTATG	0.368													T	66463908	G	T	66463908	3	4	364	1	0	0	0	0	1	0	0	0	16920	933	33	4	250	4	TYW1	7	66463908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4582	66463908	92674755	6062	29564											
TYW1	55253	broad.mit.edu	37	chr7	66532272	66532272	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgtttacttgtcatagTccatgctccgagggagagga	9	13	12	7	1	1	1	1	0	0	1	3	5	3	2	2	2	2	2	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532272T>C	ENST00000359626.5	+	10	1320	c.1156T>C	c.(1156-1158)Tcc>Ccc	p.S386P		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	386					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CTTGTCATAGTCCATGCTCCG	0.418													C	66532272	T	C	66532272	5	2	364	1	0	0	0	0	0	0	1	0	16920	1681	58	3	1194	3	TYW1	7	66532272	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68364	66532272	92606391	6063	29565											
TYW1	55253	broad.mit.edu	37	chr7	66532333	66532333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatggaattgagagccatcGctgcatggaaaccaccccga	12	7	10	12	2	0	1	0	1	0	1	1	5	0	3	4	2	3	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66532333G>A	ENST00000359626.5	+	10	1381	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	406					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GAGAGCCATCGCTGCATGGAA	0.413													A	66532333	G	A	66532333	3	1	364	1	0	0	0	0	1	0	0	0	16920	1087	38	1	1255	1	TYW1	7	66532333	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61	66532333	92606330	6064	29566											
TYW1	55253	broad.mit.edu	37	chr7	66548517	66548517	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatcagaacatgattaagCagtttaaaggtatttatctt	15	14	6	6	0	2	2	1	1	1	1	2	2	2	2	1	1	2	3	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:66548517C>T	ENST00000359626.5	+	11	1539	c.1375C>T	c.(1375-1377)Cag>Tag	p.Q459*		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	459					tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity			breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				CATGATTAAGCAGTTTAAAGG	0.433													T	66548517	C	T	66548517	4	4	364	1	0	0	0	0	0	1	0	0	16920	711	25	2	1417	2	TYW1	7	66548517	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16184	66548517	92590146	6065	29567											
AUTS2	26053	broad.mit.edu	37	chr7	69364466	69364466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaagagaaagaaaatGccgaaggcactcagacaggt	16	5	13	7	1	1	3	1	0	0	3	1	6	1	4	1	3	1	1	1	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:69364466G>A	ENST00000342771.4	+	2	825	c.504G>A	c.(502-504)atG>atA	p.M168I	AUTS2_ENST00000403018.2_Missense_Mutation_p.M168I|AUTS2_ENST00000406775.2_Missense_Mutation_p.M168I	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	168										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAAGAAAATGCCGAAGGCAC	0.502													A	69364466	G	A	69364466	3	1	364	1	0	0	0	0	1	0	0	0	1230	1319	46	2	510	2	AUTS2	7	69364466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2815949	69364466	89774197	6066	29568											
AUTS2	26053	broad.mit.edu	37	chr7	70229955	70229955	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgacatcaggaagtctgCaggtggccggacacccggcc	9	5	13	14	2	2	1	1	1	1	0	2	3	2	3	3	5	1	1	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70229955C>T	ENST00000342771.4	+	8	1753	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	AUTS2_ENST00000406775.2_Nonsense_Mutation_p.Q478*	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	478										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		AGGAAGTCTGCAGGTGGCCGG	0.662													T	70229955	C	T	70229955	4	4	364	1	0	0	0	0	0	1	0	0	1230	711	25	2	1607	2	AUTS2	7	70229955	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	865489	70229955	88908708	6067	29569											
WBSCR17	64409	broad.mit.edu	37	chr7	70885988	70885988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacaactttgaggtgcagCggtacgagaactcggcccac	11	6	13	11	3	0	2	0	1	0	1	1	4	0	3	1	4	5	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:70885988C>T	ENST00000333538.5	+	5	1493	c.859C>T	c.(859-861)Cgg>Tgg	p.R287W	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	287						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TGAGGTGCAGCGGTACGAGAA	0.577													T	70885988	C	T	70885988	3	4	364	1	0	0	0	0	1	0	0	0	17366	759	27	1	877	1	WBSCR17	7	70885988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	656033	70885988	88252675	6068	29570											
TYW1B	441250	broad.mit.edu	37	chr7	72081663	72081663	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttattcttacctttctGtgtgctatcaggaggcaatt	8	17	9	7	0	3	1	1	1	2	0	3	2	3	2	1	2	2	3	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72081663G>A	ENST00000343721.5	-	0	962				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTACCTTTCTGTGTGCTATCA	0.433													A	72081663	G	A	72081663	1	1	364	0	1	0	0	0	0	0	0	0	16921	1368	48	2		2	TYW1B	7	72081663	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1195675	72081663	87057000	6069	29571											
TYW1B	441250	broad.mit.edu	37	chr7	72209577	72209577	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctctccctcggagcatcGactatgacaagtaaacaaat	13	9	6	13	2	1	1	0	1	1	0	5	3	2	2	2	1	2	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72209577G>A	ENST00000343721.5	-	0	148				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438904.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TCGGAGCATCGACTATGACAA	0.418													A	72209577	G	A	72209577	1	1	364	0	1	0	0	0	0	0	0	0	16921	1072	37	1		1	TYW1B	7	72209577	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127914	72209577	86929086	6070	29572											
TYW1B	441250	broad.mit.edu	37	chr7	72286071	72286071	+	RNA	DEL	A	A	-																															ttgcaaatccctaataggacAaaaaaaaacttcaaataaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72286071delA	ENST00000438904.2	-	0	234				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										CTAATAGGACAAAAAAAAACT	0.378													-	72286071	A	-	72286071	6	5	364	0	1	1	0	1	0	0	0	0	16921	145	5	0		0	TYW1B	7	72286071	RNA	DEL	A	TCGA-DU-6392-01A-11D-1705-08	76494	72286071	86852592	6071	29573											
POM121	9883	broad.mit.edu	37	chr7	72412550	72412550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctccatccatggtaccagCcactgacaccaaggcacctc	10	7	7	17	0	0	1	0	1	0	0	3	1	2	1	6	2	3	3	6	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72412550C>T	ENST00000395270.1	+	14	2264	c.1223C>T	c.(1222-1224)gCc>gTc	p.A408V	POM121_ENST00000358357.3_Missense_Mutation_p.A408V|POM121_ENST00000257622.4_Missense_Mutation_p.A408V|POM121_ENST00000446813.1_Missense_Mutation_p.A408V|POM121_ENST00000434423.2_Missense_Mutation_p.A673V	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	673	Pore side (Potential).|Ser-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ATGGTACCAGCCACTGACACC	0.627													T	72412550	C	T	72412550	3	4	364	1	0	0	0	0	1	0	0	0	12316	739	26	2	1261	2	POM121	7	72412550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126479	72412550	86726113	6072	29574											
POM121	9883	broad.mit.edu	37	chr7	72416129	72416129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcttcattccaggcacCgccacccccacctttggtct	5	12	6	18	1	3	0	1	0	2	0	5	0	4	0	6	2	0	2	6	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72416129C>T	ENST00000395270.1	+	15	3780	c.2739C>T	c.(2737-2739)acC>acT	p.T913T	POM121_ENST00000358357.3_Silent_p.T913T|POM121_ENST00000257622.4_Silent_p.T913T|POM121_ENST00000446813.1_Silent_p.T913T|POM121_ENST00000434423.2_Silent_p.T1178T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	1178	Pore side (Potential).|Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				TTCCAGGCACCGCCACCCCCA	0.652													T	72416129	C	T	72416129	2	4	364	1	0	0	0	0	0	0	0	1	12316	639	23	1		1	POM121	7	72416129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3579	72416129	86722534	6073	29575											
NSUN5	55695	broad.mit.edu	37	chr7	72717608	72717608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcactcaccttggcacctcGacccgttcaattacagcaac	10	9	5	17	2	3	0	3	0	0	0	4	1	3	0	3	1	3	3	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72717608G>A	ENST00000428206.1	-	9	1174	c.1161C>T	c.(1159-1161)gtC>gtT	p.V387V	NSUN5_ENST00000252594.6_Silent_p.V425V|NSUN5_ENST00000310326.8_Silent_p.V425V|NSUN5_ENST00000438747.2_Silent_p.V425V	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	425							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGGCACCTCGACCCGTTCAA	0.612													A	72717608	G	A	72717608	2	1	364	1	0	0	0	0	0	0	0	1	10757	1045	37	1		1	NSUN5	7	72717608	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301479	72717608	86421055	6074	29576											
TRIM50	135892	broad.mit.edu	37	chr7	72732972	72732972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctatcccctccaggcagCgggccttctcctcatccacc	5	8	6	22	1	2	0	1	0	1	0	6	0	5	0	9	2	1	1	9	2	1	2	rs147367299	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72732972C>T	ENST00000333149.2	-	4	775	c.575G>A	c.(574-576)cGc>cAc	p.R192H	TRIM50_ENST00000453152.1_Missense_Mutation_p.R192H	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	192						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						CTCCAGGCAGCGGGCCTTCTC	0.677													T	72732972	C	T	72732972	3	4	364	1	0	0	0	0	1	0	0	0	16627	768	27	1	904	1	TRIM50	7	72732972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15364	72732972	86405691	6075	29577											
FZD9	8326	broad.mit.edu	37	chr7	72849436	72849436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcctggggcctgcccGcgctcaagaccatcgtcatc	5	8	12	16	3	2	1	2	0	0	1	4	1	2	1	4	3	2	2	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72849436G>A	ENST00000344575.3	+	1	1328	c.1099G>A	c.(1099-1101)Gcg>Acg	p.A367T		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	367					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				GGGCCTGCCCGCGCTCAAGAC	0.657													A	72849436	G	A	72849436	3	1	364	1	0	0	0	0	1	0	0	0	6189	1087	38	1	1101	1	FZD9	7	72849436	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116464	72849436	86289227	6076	29578											
BAZ1B	9031	broad.mit.edu	37	chr7	72892056	72892056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactcttggtcctcataccGcttctgtttttctaatctct	6	19	4	12	1	5	0	1	0	4	0	7	0	6	0	2	1	2	2	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:72892056G>A	ENST00000339594.4	-	7	2073	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R579W	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	579					ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				TCCTCATACCGCTTCTGTTTT	0.438													A	72892056	G	A	72892056	3	1	364	1	0	0	0	0	1	0	0	0	1335	1086	38	1	2768	1	BAZ1B	7	72892056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42620	72892056	86246607	6077	29579											
MLXIPL	51085	broad.mit.edu	37	chr7	73010520	73010520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactgagtgtgctcacgagcCcatgaagggtgtcaaacccc	10	7	11	13	1	2	2	2	2	0	0	2	3	2	2	3	1	3	1	3	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73010520C>A	ENST00000313375.3	-	13	2068	c.2021G>T	c.(2020-2022)gGg>gTg	p.G674V	MLXIPL_ENST00000395189.1_Missense_Mutation_p.G581V|MLXIPL_ENST00000429400.2_Missense_Mutation_p.G674V|MLXIPL_ENST00000414749.2_Missense_Mutation_p.G672V|MLXIPL_ENST00000354613.1_Missense_Mutation_p.G672V|MLXIPL_ENST00000434326.1_Missense_Mutation_p.G580V	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	674					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				GCTCACGAGCCCATGAAGGGT	0.642													A	73010520	C	A	73010520	3	1	364	1	0	0	0	0	1	0	0	0	9712	623	22	4	557	4	MLXIPL	7	73010520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118464	73010520	86128143	6078	29580											
WBSCR22	114049	broad.mit.edu	37	chr7	73108321	73108321	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcactttggttcctgcaGgggctgagtgaaaatcagga	10	10	14	7	0	1	2	1	2	0	0	2	3	2	3	1	4	2	4	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73108321G>T	ENST00000423166.2	+	8	564		c.e8-1		WBSCR22_ENST00000265758.2_Splice_Site|WBSCR22_ENST00000423497.1_Splice_Site			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22							nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGTTCCTGCAGGGGCTGAGTG	0.587													T	73108321	G	T	73108321	5	4	364	1	0	0	0	0	0	0	1	0	17367	1014	35	4	680	4	WBSCR22	7	73108321	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97801	73108321	86030342	6079	29581											
CLDN4	1364	broad.mit.edu	37	chr7	73245993	73245993	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatccgctggtggcctcCgggcagaagcgggagatggg	8	6	17	10	3	0	2	0	0	0	2	2	3	2	2	3	5	2	2	3	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73245993C>T	ENST00000435050.1	+	2	3142	c.462C>T	c.(460-462)tcC>tcT	p.S154S	CLDN4_ENST00000340958.2_Silent_p.S154S|CLDN4_ENST00000431918.1_Silent_p.S154S			O14493	CLD4_HUMAN	claudin 4	154					calcium-independent cell-cell adhesion	integral to plasma membrane|tight junction	identical protein binding|structural molecule activity|transmembrane receptor activity			kidney(2)|lung(4)|urinary_tract(1)	7		Lung NSC(55;0.159)				TGGTGGCCTCCGGGCAGAAGC	0.657													T	73245993	C	T	73245993	2	4	364	1	0	0	0	0	0	0	0	1	3518	639	23	1		1	CLDN4	7	73245993	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137672	73245993	85892670	6080	29582											
ELN	2006	broad.mit.edu	37	chr7	73456972	73456972	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccccgcagttaccttTccgggggctctggtgcctgg	2	11	13	15	2	1	0	0	0	1	0	3	0	3	0	6	4	2	3	6	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73456972T>C	ENST00000252034.7	+	6	660	c.261T>C	c.(259-261)ttT>ttC	p.F87F	ELN_ENST00000320492.7_Silent_p.F75F|ELN_ENST00000429192.1_Silent_p.F87F|ELN_ENST00000320399.6_Silent_p.F87F|ELN_ENST00000380576.5_Silent_p.F87F|ELN_ENST00000380562.4_Silent_p.F87F|ELN_ENST00000380575.4_Silent_p.F77F|ELN_ENST00000458204.1_Silent_p.F77F|ELN_ENST00000358929.4_Silent_p.F87F|ELN_ENST00000414324.1_Silent_p.F77F|ELN_ENST00000380584.4_Silent_p.F87F|ELN_ENST00000357036.5_Silent_p.F87F|ELN_ENST00000445912.1_Silent_p.F87F|ELN_ENST00000380553.4_Intron	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	87					blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGTTACCTTTCCGGGGGCTC	0.627			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						C	73456972	T	C	73456972	2	2	364	1	0	0	0	0	0	0	0	1	5112	1780	62	3		3	ELN	7	73456972	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	210979	73456972	85681691	6081	29583											
ELN	2006	broad.mit.edu	37	chr7	73475434	73475434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctttctccccagtacCtggagccctggctgccgcta	4	13	8	16	1	2	0	0	0	2	0	3	1	2	1	5	2	3	3	5	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73475434C>A	ENST00000252034.7	+	26	2150	c.1751C>A	c.(1750-1752)cCt>cAt	p.P584H	ELN_ENST00000320492.7_Missense_Mutation_p.P503H|ELN_ENST00000429192.1_Missense_Mutation_p.P570H|ELN_ENST00000320399.6_Missense_Mutation_p.P617H|ELN_ENST00000380576.5_Missense_Mutation_p.P565H|ELN_ENST00000380562.4_Missense_Mutation_p.P590H|ELN_ENST00000380575.4_Missense_Mutation_p.P555H|ELN_ENST00000458204.1_Missense_Mutation_p.P574H|CTB-51J22.1_ENST00000435932.1_RNA|ELN_ENST00000358929.4_Missense_Mutation_p.P652H|ELN_ENST00000414324.1_Missense_Mutation_p.P560H|ELN_ENST00000380584.4_Missense_Mutation_p.P536H|ELN_ENST00000357036.5_Missense_Mutation_p.P589H|ELN_ENST00000445912.1_Missense_Mutation_p.P584H|ELN_ENST00000380553.4_Missense_Mutation_p.P448H	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	646	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	TCCCCAGTACCTGGAGCCCTG	0.597			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						A	73475434	C	A	73475434	3	1	364	1	0	0	0	0	1	0	0	0	5112	681	24	4	1868	4	ELN	7	73475434	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18462	73475434	85663229	6082	29584											
ELN	2006	broad.mit.edu	37	chr7	73477524	73477524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggagggctcggggctctcGgtggagtaggcatcccaggc	5	8	18	10	2	1	0	0	0	1	0	4	2	2	2	1	8	0	4	1	8	1	2	rs140425210	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73477524G>A	ENST00000252034.7	+	27	2227	c.1828G>A	c.(1828-1830)Ggt>Agt	p.G610S	ELN_ENST00000320492.7_Missense_Mutation_p.G529S|ELN_ENST00000429192.1_Missense_Mutation_p.G596S|ELN_ENST00000320399.6_Missense_Mutation_p.G643S|ELN_ENST00000380576.5_Missense_Mutation_p.G591S|ELN_ENST00000380562.4_Missense_Mutation_p.G616S|ELN_ENST00000380575.4_Missense_Mutation_p.G581S|ELN_ENST00000458204.1_Missense_Mutation_p.G600S|ELN_ENST00000358929.4_Missense_Mutation_p.G678S|ELN_ENST00000414324.1_Missense_Mutation_p.G586S|ELN_ENST00000380584.4_Missense_Mutation_p.G562S|ELN_ENST00000357036.5_Missense_Mutation_p.G615S|ELN_ENST00000445912.1_Missense_Mutation_p.G610S|ELN_ENST00000380553.4_Missense_Mutation_p.G474S	NM_000501.2|NM_001278915.1	NP_000492.2|NP_001265844.1	P15502	ELN_HUMAN	elastin	672	Ala-rich.		G -> R (in dbSNP:rs17855988).		blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CGGGGCTCTCGGTGGAGTAGG	0.622			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						A	73477524	G	A	73477524	3	1	364	1	0	0	0	0	1	0	0	0	5112	1116	39	1	1949	1	ELN	7	73477524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2090	73477524	85661139	6083	29585											
CLIP2	7461	broad.mit.edu	37	chr7	73770789	73770789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgcgcccatccacaaaGtgatccgtatcggcttccca	8	10	7	16	4	1	1	0	1	1	0	6	1	4	1	4	1	0	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770789G>A	ENST00000223398.6	+	5	1180	c.853G>A	c.(853-855)Gtg>Atg	p.V285M	CLIP2_ENST00000395060.1_Missense_Mutation_p.V285M|CLIP2_ENST00000361545.5_Missense_Mutation_p.V285M	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	285						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CATCCACAAAGTGATCCGTAT	0.587													A	73770789	G	A	73770789	3	1	364	1	0	0	0	0	1	0	0	0	3564	1029	36	2	867	2	CLIP2	7	73770789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293265	73770789	85367874	6084	29586											
CLIP2	7461	broad.mit.edu	37	chr7	73770800	73770800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccacaaagtgatccgtatCggcttcccatctaccagccc	10	9	6	16	2	1	1	0	1	1	0	5	1	4	1	5	1	2	2	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73770800C>T	ENST00000223398.6	+	5	1191	c.864C>T	c.(862-864)atC>atT	p.I288I	CLIP2_ENST00000395060.1_Silent_p.I288I|CLIP2_ENST00000361545.5_Silent_p.I288I	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	288						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGATCCGTATCGGCTTCCCAT	0.587													T	73770800	C	T	73770800	2	4	364	1	0	0	0	0	0	0	0	1	3564	874	31	1		1	CLIP2	7	73770800	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	73770800	85367863	6085	29587											
CLIP2	7461	broad.mit.edu	37	chr7	73790597	73790597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctggactcgctggcctcGgaccaccagaagtccctgga	9	6	12	14	2	0	1	0	0	0	1	3	4	1	4	4	4	1	2	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73790597G>A	ENST00000223398.6	+	10	2193	c.1866G>A	c.(1864-1866)tcG>tcA	p.S622S	CLIP2_ENST00000395060.1_Silent_p.S622S|CLIP2_ENST00000361545.5_Silent_p.S587S	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	622						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGCTGGCCTCGGACCACCAGA	0.622													A	73790597	G	A	73790597	2	1	364	1	0	0	0	0	0	0	0	1	3564	1103	39	1		1	CLIP2	7	73790597	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19797	73790597	85348066	6086	29588											
CLIP2	7461	broad.mit.edu	37	chr7	73814804	73814804	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatgagcacggaggaCgccctgcgggatgcgctgga	8	5	17	11	4	0	2	0	2	0	0	0	6	0	6	1	4	4	3	1	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73814804C>T	ENST00000223398.6	+	15	3312	c.2985C>T	c.(2983-2985)gaC>gaT	p.D995D	CLIP2_ENST00000395060.1_Silent_p.D995D|CLIP2_ENST00000361545.5_Silent_p.D960D	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	995						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GCACGGAGGACGCCCTGCGGG	0.657													T	73814804	C	T	73814804	2	4	364	1	0	0	0	0	0	0	0	1	3564	535	19	1		1	CLIP2	7	73814804	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24207	73814804	85323859	6087	29589											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73973325	73973325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccttcggctcccagaacCtggagaggattcttgctgtg	7	11	12	11	1	1	2	0	0	1	2	3	4	2	3	3	3	3	3	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:73973325C>A	ENST00000476977.1	+	21	3933	c.2242C>A	c.(2242-2244)Ctg>Atg	p.L748M	GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.L748M|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.L780M|GTF2IRD1_ENST00000489094.1_3'UTR|GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.L763M			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	763						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCCAGAACCTGGAGAGGAT	0.577													A	73973325	C	A	73973325	3	1	364	1	0	0	0	0	1	0	0	0	6923	680	24	4	2365	4	GTF2IRD1	7	73973325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158521	73973325	85165338	6088	29590											
NCF1	653361	broad.mit.edu	37	chr7	74191612	74191612	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgactctggctttcccccaGgtgtacatgttcctggtgaa	6	12	10	13	1	1	1	0	1	1	0	3	2	3	1	4	3	1	3	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74191612G>T	ENST00000289473.4	+	2	142		c.e2-1		NCF1_ENST00000443956.3_Splice_Site	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1						cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CTTTCCCCCAGGTGTACATGT	0.587													T	74191612	G	T	74191612	5	4	364	1	0	0	0	0	0	0	1	0	10292	1014	35	4	78	4	NCF1	7	74191612	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218287	74191612	84947051	6089	29591											
STAG3L2	442582	broad.mit.edu	37	chr7	74301237	74301237	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatttcctcaatgcagataGcacggatctcaggaaggaca	14	8	9	10	1	2	1	2	0	1	1	4	4	3	4	1	3	2	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74301237G>T	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						AATGCAGATAGCACGGATCTC	0.458													T	74301237	G	T	74301237	1	4	364	0	1	0	0	0	0	0	0	0	15341	971	34	4		4	STAG3L2	7	74301237	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109625	74301237	84837426	6090	29592											
WBSCR16	81554	broad.mit.edu	37	chr7	74470046	74470046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgagtccacatcggatgCgggaaacctggatttctggg	8	9	15	9	2	1	1	0	1	1	0	3	4	2	4	2	5	2	1	2	5	1	1	rs140481718	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:74470046C>T	ENST00000503250.2	-	9	1262	c.1193G>A	c.(1192-1194)cGc>cAc	p.R398H	WBSCR16_ENST00000329959.4_Missense_Mutation_p.R398H	NM_148842.2	NP_683682.1	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	398										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ACATCGGATGCGGGAAACCTG	0.542													T	74470046	C	T	74470046	3	4	364	1	0	0	0	0	1	0	0	0	17365	768	27	1	213	1	WBSCR16	7	74470046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168809	74470046	84668617	6091	29593											
POM121C	100101267	broad.mit.edu	37	chr7	75051127	75051127	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagctggtggctgcaccgAaggagaagacagcagtggag	11	4	18	8	2	0	2	0	0	0	2	0	6	0	4	1	5	3	4	1	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75051127A>G	ENST00000453279.2	-	13	3272	c.2408T>C	c.(2407-2409)tTc>tCc	p.F803S	POM121C_ENST00000257665.5_Missense_Mutation_p.F1045S	NM_001099415.1	NP_001092885	A8CG34	P121C_HUMAN	POM121 transmembrane nucleoporin C	1045	Pore side (Potential).|Thr-rich.				mRNA transport|protein transport|transmembrane transport	endoplasmic reticulum membrane|nuclear membrane|nuclear pore	protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	14						GGCTGCACCGAAGGAGAAGAC	0.657													G	75051127	A	G	75051127	3	3	364	1	0	0	0	0	1	0	0	0	12317	246	9	3	567	3	POM121C	7	75051127	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	581081	75051127	84087536	6092	29594											
HIP1	3092	broad.mit.edu	37	chr7	75184725	75184725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattgcaagtgtacctgcaGacccagcgcagctgatgaga	12	7	11	11	1	0	3	0	2	0	2	0	4	0	3	2	0	5	5	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75184725G>A	ENST00000336926.6	-	19	1984	c.1958C>T	c.(1957-1959)tCt>tTt	p.S653F	HIP1_ENST00000434438.2_Missense_Mutation_p.S653F	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	653					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGTACCTGCAGACCCAGCGCA	0.557			T	PDGFRB	CMML								A	75184725	G	A	75184725	3	1	364	1	0	0	0	0	1	0	0	0	7169	942	33	2	1207	2	HIP1	7	75184725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133598	75184725	83953938	6093	29595											
HIP1	3092	broad.mit.edu	37	chr7	75187036	75187036	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttccaaatctacctgggcTtgtctggccatggacacctg	7	11	10	13	1	2	0	0	0	2	0	3	1	3	1	4	3	1	2	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75187036T>G	ENST00000336926.6	-	16	1529	c.1503A>C	c.(1501-1503)caA>caC	p.Q501H	HIP1_ENST00000434438.2_Missense_Mutation_p.Q501H	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	501					activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTACCTGGGCTTGTCTGGCCA	0.532			T	PDGFRB	CMML								G	75187036	T	G	75187036	3	3	364	1	0	0	0	0	1	0	0	0	7169	1606	56	5	1674	5	HIP1	7	75187036	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2311	75187036	83951627	6094	29596											
CCL26	10344	broad.mit.edu	37	chr7	75399066	75399066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttgcacccattttttcCttggatgggtacagactttc	7	18	7	9	0	0	1	0	0	0	1	2	2	1	2	2	2	2	2	2	2	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75399066C>T	ENST00000394905.2	-	4	487	c.230G>A	c.(229-231)aGg>aAg	p.R77K	CCL26_ENST00000005180.4_Missense_Mutation_p.R77K	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	77					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						CCATTTTTTCCTTGGATGGGT	0.438													T	75399066	C	T	75399066	3	4	364	1	0	0	0	0	1	0	0	0	2926	681	24	2	58	2	CCL26	7	75399066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212030	75399066	83739597	6095	29597											
CCL26	10344	broad.mit.edu	37	chr7	75401213	75401213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaaatactcacatcacaGcccgctgggagcagctgtta	12	7	10	12	2	2	1	2	0	0	1	2	3	2	2	1	1	4	4	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75401213G>A	ENST00000394905.2	-	3	439	c.182C>T	c.(181-183)gCt>gTt	p.A61V	CCL26_ENST00000005180.4_Missense_Mutation_p.A61V	NM_006072.4	NP_006063.1	Q9Y258	CCL26_HUMAN	chemokine (C-C motif) ligand 26	61					cell-cell signaling|chemotaxis|immune response|inflammatory response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|signal transduction	extracellular space	chemokine activity			lung(3)	3						TCACATCACAGCCCGCTGGGA	0.562													A	75401213	G	A	75401213	3	1	364	1	0	0	0	0	1	0	0	0	2926	971	34	2	110	2	CCL26	7	75401213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2147	75401213	83737450	6096	29598											
TMEM120A	83862	broad.mit.edu	37	chr7	75621548	75621548	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctcctgtgcggccccCtcggcctctgctgggaggga	3	8	14	16	2	1	0	0	0	1	0	4	2	3	2	5	4	3	2	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75621548C>A	ENST00000493111.2	-	0	230				TMEM120A_ENST00000338761.4_RNA			Q9BXJ8	T120A_HUMAN	transmembrane protein 120A							integral to membrane											GTGCGGCCCCCTCGGCCTCTG	0.602													A	75621548	C	A	75621548	1	1	364	0	1	0	0	0	0	0	0	0	16133	680	24	4		4	TMEM120A	7	75621548	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	220335	75621548	83517115	6097	29599											
STYXL1	51657	broad.mit.edu	37	chr7	75634663	75634663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaggcttgactgaaattGccaacgaagaccttccctgg	11	9	9	12	1	1	3	1	2	0	1	2	4	2	3	3	2	2	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75634663G>A	ENST00000451157.1	-	6	682	c.513C>T	c.(511-513)ggC>ggT	p.G171G	STYXL1_ENST00000360591.3_3'UTR|STYXL1_ENST00000359697.3_Silent_p.G171G|STYXL1_ENST00000340062.5_Silent_p.G75G|STYXL1_ENST00000248600.1_Silent_p.G171G|STYXL1_ENST00000431581.1_Silent_p.G171G			Q9Y6J8	STYL1_HUMAN	serine/threonine/tyrosine interacting-like 1	171	Tyrosine-protein phosphatase.				intracellular signal transduction|protein dephosphorylation	intracellular	protein binding|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	10						GACTGAAATTGCCAACGAAGA	0.468													A	75634663	G	A	75634663	2	1	364	1	0	0	0	0	0	0	0	1	15457	1306	46	2		2	STYXL1	7	75634663	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13115	75634663	83504000	6098	29600											
YWHAG	7532	broad.mit.edu	37	chr7	75958909	75958909	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccttaattgttgccttcGccgccatcgtcgtcctgctg	3	13	11	14	4	0	0	0	0	0	0	4	0	1	0	5	1	2	2	5	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:75958909G>A	ENST00000307630.3	-	2	951	c.729C>T	c.(727-729)ggC>ggT	p.G243G		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	243					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity	p.G243G(1)		endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						TGTTGCCTTCGCCGCCATCGT	0.597													A	75958909	G	A	75958909	2	1	364	1	0	0	0	0	0	0	0	1	17605	1074	38	1		1	YWHAG	7	75958909	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324246	75958909	83179754	6099	29601											
SRCRB4D	136853	broad.mit.edu	37	chr7	76024571	76024571	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagggctgagctctttaccGgacggatctgtctgccaagc	7	9	14	11	2	3	1	0	1	3	0	3	4	3	4	2	4	4	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76024571G>A	ENST00000275560.3	-	7	1292	c.945C>T	c.(943-945)tcC>tcT	p.S315S		NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	315						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCTCTTTACCGGACGGATCTG	0.632													A	76024571	G	A	76024571	5	1	364	1	0	0	0	0	0	0	1	0	15233	1130	39	1	802	1	SRCRB4D	7	76024571	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65662	76024571	83114092	6100	29602											
CCDC146	57639	broad.mit.edu	37	chr7	76871012	76871012	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatgtaacccagcacaCaagagtcagaggtccaactg	13	9	8	11	0	2	2	2	0	0	2	3	2	3	2	2	1	3	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76871012C>T	ENST00000285871.4	+	4	371	c.244C>T	c.(244-246)Caa>Taa	p.Q82*	CCDC146_ENST00000431197.1_5'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	82										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				ACCCAGCACACAAGAGTCAGA	0.483													T	76871012	C	T	76871012	4	4	364	1	0	0	0	0	0	1	0	0	2806	479	17	2	254	2	CCDC146	7	76871012	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	846441	76871012	82267651	6101	29603											
CCDC146	57639	broad.mit.edu	37	chr7	76912054	76912054	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgacccagaaattactGccagccaagaggtccctgga	11	8	11	11	0	0	3	0	1	0	2	1	4	1	4	4	2	3	0	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76912054G>A	ENST00000285871.4	+	15	2227	c.2100G>A	c.(2098-2100)ctG>ctA	p.L700L	CCDC146_ENST00000431197.1_Silent_p.L414L|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	700										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				AGAAATTACTGCCAGCCAAGA	0.433													A	76912054	G	A	76912054	2	1	364	1	0	0	0	0	0	0	0	1	2806	1306	46	2		2	CCDC146	7	76912054	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41042	76912054	82226609	6102	29604											
CCDC146	57639	broad.mit.edu	37	chr7	76922406	76922406	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagacttcatcttcacttgCaattccaggatagaaaaagg	15	10	8	8	0	3	2	2	0	1	2	4	4	4	3	1	2	1	1	1	2	5	5	rs149134416		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:76922406C>T	ENST00000285871.4	+	18	2680	c.2553C>T	c.(2551-2553)tgC>tgT	p.C851C	CCDC146_ENST00000431197.1_Silent_p.C565C|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	851										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TCTTCACTTGCAATTCCAGGA	0.433													T	76922406	C	T	76922406	2	4	364	1	0	0	0	0	0	0	0	1	2806	718	25	2		2	CCDC146	7	76922406	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10352	76922406	82216257	6103	29605											
PTPN12	5782	broad.mit.edu	37	chr7	77256149	77256149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctactgtgtggcaggacaatGatagataccatccaaagcca	14	8	9	10	0	0	2	0	1	0	1	1	3	1	3	3	2	3	1	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77256149G>A	ENST00000248594.6	+	13	1425	c.1153G>A	c.(1153-1155)Gat>Aat	p.D385N	PTPN12_ENST00000415482.2_Missense_Mutation_p.D266N|PTPN12_ENST00000435495.2_Missense_Mutation_p.D255N	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	385	Interaction with TGFB1I1 (By similarity).					soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GCAGGACAATGATAGATACCA	0.458													A	77256149	G	A	77256149	3	1	364	1	0	0	0	0	1	0	0	0	12867	1290	45	2	1203	2	PTPN12	7	77256149	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	333743	77256149	81882514	6104	29606											
TMEM60	85025	broad.mit.edu	37	chr7	77423538	77423538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccattttcacaatcagcagGacaagaaggatagtatcaaa	17	8	8	8	0	3	1	3	0	0	1	3	3	3	3	1	2	1	2	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77423538G>A	ENST00000257663.3	-	2	529	c.153C>T	c.(151-153)gtC>gtT	p.V51V		NM_032936.3	NP_116325.1	Q9H2L4	TMM60_HUMAN	transmembrane protein 60	51						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)	4						CAATCAGCAGGACAAGAAGGA	0.418													A	77423538	G	A	77423538	2	1	364	1	0	0	0	0	0	0	0	1	16287	1161	41	2		2	TMEM60	7	77423538	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167389	77423538	81715125	6105	29607											
PHTF2	57157	broad.mit.edu	37	chr7	77569596	77569596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttttttttgctctgtGtagcagaaagaacttataaa	11	19	6	5	0	2	2	0	0	2	2	2	2	2	2	0	0	3	3	0	0	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569596G>A	ENST00000416283.2	+	12	1741	c.1615G>A	c.(1615-1617)Gta>Ata	p.V539I	PHTF2_ENST00000424760.1_Missense_Mutation_p.V535I|PHTF2_ENST00000422959.2_Missense_Mutation_p.V539I|PHTF2_ENST00000307305.8_Missense_Mutation_p.V535I|PHTF2_ENST00000248550.7_Missense_Mutation_p.V573I|PHTF2_ENST00000275575.7_Missense_Mutation_p.V535I	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	573					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						TTTGCTCTGTGTAGCAGAAAG	0.308													A	77569596	G	A	77569596	3	1	364	1	0	0	0	0	1	0	0	0	11940	1377	48	2	1715	2	PHTF2	7	77569596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146058	77569596	81569067	6106	29608											
PHTF2	57157	broad.mit.edu	37	chr7	77569880	77569880	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactctttggacatttaacAtctgcaaggagggctcgaaa	14	10	9	8	1	2	0	0	0	2	0	3	3	2	2	0	3	3	2	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77569880A>C	ENST00000416283.2	+	13	1800	c.1674A>C	c.(1672-1674)acA>acC	p.T558T	PHTF2_ENST00000422959.2_Silent_p.T558T|PHTF2_ENST00000307305.8_Silent_p.T554T|PHTF2_ENST00000248550.7_Silent_p.T592T|PHTF2_ENST00000275575.7_Silent_p.T554T	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	592					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GACATTTAACATCTGCAAGGA	0.338													C	77569880	A	C	77569880	2	2	364	1	0	0	0	0	0	0	0	1	11940	204	8	5		5	PHTF2	7	77569880	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	284	77569880	81568783	6107	29609											
PHTF2	57157	broad.mit.edu	37	chr7	77579012	77579012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagctacttcatgtacacgaGatcttccttgattgtcacta	10	15	6	10	1	3	2	2	1	1	1	4	3	4	2	1	0	3	2	1	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77579012G>A	ENST00000416283.2	+	15	2001	c.1875G>A	c.(1873-1875)gaG>gaA	p.E625E	PHTF2_ENST00000422959.2_Silent_p.E625E|PHTF2_ENST00000307305.8_Silent_p.E621E|PHTF2_ENST00000248550.7_Silent_p.E659E|PHTF2_ENST00000275575.7_Intron	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						ATGTACACGAGATCTTCCTTG	0.328													A	77579012	G	A	77579012	2	1	364	1	0	0	0	0	0	0	0	1	11940	933	33	2		2	PHTF2	7	77579012	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9132	77579012	81559651	6108	29610											
MAGI2	9863	broad.mit.edu	37	chr7	77789561	77789561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgggtggatacagagcctgGacttctcccgttctctgggc	5	11	14	11	1	2	1	0	0	2	1	4	3	2	3	2	4	2	1	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:77789561G>A	ENST00000354212.4	-	16	2879	c.2626C>T	c.(2626-2628)Cca>Tca	p.P876S	MAGI2_ENST00000522391.1_Missense_Mutation_p.P876S|MAGI2_ENST00000419488.1_Missense_Mutation_p.P862S	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	876						cell junction|synapse|synaptosome	phosphatase binding	p.P876S(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ACAGAGCCTGGACTTCTCCCG	0.532													A	77789561	G	A	77789561	3	1	364	1	0	0	0	0	1	0	0	0	9266	1174	41	2	1769	2	MAGI2	7	77789561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210549	77789561	81349102	6109	29611											
CD36	948	broad.mit.edu	37	chr7	80276087	80276087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accggaactgtgggctcatcGctggggctgtcattggtgct	5	11	15	10	2	2	0	2	0	0	0	3	1	2	1	1	5	2	4	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80276087G>A	ENST00000435819.1	+	6	715	c.31G>A	c.(31-33)Gct>Act	p.A11T	CD36_ENST00000432207.1_Missense_Mutation_p.A11T|CD36_ENST00000309881.7_Missense_Mutation_p.A11T|CD36_ENST00000441109.2_3'UTR|CD36_ENST00000433696.2_Missense_Mutation_p.A11T|CD36_ENST00000447544.2_Missense_Mutation_p.A11T|CD36_ENST00000544133.1_Missense_Mutation_p.A11T|CD36_ENST00000538969.1_Missense_Mutation_p.A11T|CD36_ENST00000534394.1_Intron|CD36_ENST00000394788.3_Missense_Mutation_p.A11T			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	11					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGCTCATCGCTGGGGCTGT	0.453													A	80276087	G	A	80276087	3	1	364	1	0	0	0	0	1	0	0	0	3037	1087	38	1	33	1	CD36	7	80276087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2486526	80276087	78862576	6110	29612											
CD36	948	broad.mit.edu	37	chr7	80292424	80292424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactgttatggggctataGggatccatttttgagtttgg	9	15	13	4	0	0	2	0	1	0	1	1	3	1	3	1	4	1	3	1	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:80292424G>A	ENST00000435819.1	+	9	1232	c.548G>A	c.(547-549)aGg>aAg	p.R183K	CD36_ENST00000432207.1_Missense_Mutation_p.R183K|CD36_ENST00000309881.7_Missense_Mutation_p.R183K|CD36_ENST00000433696.2_Missense_Mutation_p.R183K|CD36_ENST00000447544.2_Missense_Mutation_p.R183K|CD36_ENST00000544133.1_Missense_Mutation_p.R183K|CD36_ENST00000538969.1_Intron|CD36_ENST00000534394.1_Missense_Mutation_p.R107K|CD36_ENST00000394788.3_Missense_Mutation_p.R183K			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	183					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TGGGGCTATAGGGATCCATTT	0.338													A	80292424	G	A	80292424	3	1	364	1	0	0	0	0	1	0	0	0	3037	1000	35	2	562	2	CD36	7	80292424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16337	80292424	78846239	6111	29613											
CACNA2D1	781	broad.mit.edu	37	chr7	81588629	81588629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagacatcaggcccttttcGgtatctgggttgcttaacca	8	12	10	11	1	2	1	1	0	1	1	3	1	2	1	2	3	2	4	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81588629G>A	ENST00000356860.3	-	38	3459	c.3121C>T	c.(3121-3123)Cga>Tga	p.R1041*	CACNA2D1_ENST00000535308.1_Nonsense_Mutation_p.R253*|CACNA2D1_ENST00000356253.5_Nonsense_Mutation_p.R1053*	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	1053						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGCCCTTTTCGGTATCTGGGT	0.358													A	81588629	G	A	81588629	4	1	364	1	0	0	0	0	0	1	0	0	2574	1124	39	1	162	1	CACNA2D1	7	81588629	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1296205	81588629	77550034	6112	29614											
CACNA2D1	781	broad.mit.edu	37	chr7	81746384	81746384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatagatgtcagtaggaaTatggactgctgcgtgctgat	10	12	12	7	1	2	2	2	1	0	1	2	4	2	4	0	2	3	3	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:81746384T>C	ENST00000356860.3	-	6	840	c.502A>G	c.(502-504)Att>Gtt	p.I168V	CACNA2D1_ENST00000423588.1_Missense_Mutation_p.I168V|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.I168V	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	168						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAGTAGGAATATGGACTGCT	0.418													C	81746384	T	C	81746384	3	2	364	1	0	0	0	0	1	0	0	0	2574	1406	49	3	2909	3	CACNA2D1	7	81746384	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157755	81746384	77392279	6113	29615											
PCLO	27445	broad.mit.edu	37	chr7	82545693	82545693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagattctgtttgggtttgtGgtggtataaactggctgaat	8	16	14	3	0	1	2	0	1	1	1	1	3	1	2	0	4	1	4	0	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82545693G>T	ENST00000333891.9	-	7	11946	c.11609C>A	c.(11608-11610)cCa>cAa	p.P3870Q	PCLO_ENST00000437081.1_Missense_Mutation_p.P590Q|PCLO_ENST00000423517.2_Missense_Mutation_p.P3870Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGGTTTGTGGTGGTATAAA	0.478													T	82545693	G	T	82545693	3	4	364	1	0	0	0	0	1	0	0	0	11659	1348	47	4	3912	4	PCLO	7	82545693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	799309	82545693	76592970	6114	29616											
PCLO	27445	broad.mit.edu	37	chr7	82764321	82764321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttcttccttcttttgtaCggggtcaacttgtttttgac	4	19	10	8	1	3	1	1	1	2	0	4	1	4	1	1	3	2	3	1	3	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764321C>T	ENST00000333891.9	-	3	2882	c.2545G>A	c.(2545-2547)Gta>Ata	p.V849I	PCLO_ENST00000423517.2_Missense_Mutation_p.V849I	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTCTTTTGTACGGGGTCAACT	0.453													T	82764321	C	T	82764321	3	4	364	1	0	0	0	0	1	0	0	0	11659	536	19	1	12992	1	PCLO	7	82764321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218628	82764321	76374342	6115	29617											
PCLO	27445	broad.mit.edu	37	chr7	82764401	82764401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatctgatgcaggtcgaGgtatggctttagaatcaaat	12	13	11	5	1	2	3	1	2	1	1	3	4	2	3	0	3	1	3	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82764401G>T	ENST00000333891.9	-	3	2802	c.2465C>A	c.(2464-2466)cCt>cAt	p.P822H	PCLO_ENST00000423517.2_Missense_Mutation_p.P822H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGTCGAGGTATGGCTTT	0.443													T	82764401	G	T	82764401	3	4	364	1	0	0	0	0	1	0	0	0	11659	1000	35	4	13072	4	PCLO	7	82764401	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	82764401	76374262	6116	29618											
PCLO	27445	broad.mit.edu	37	chr7	82784980	82784980	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggctttgcaggcccaGgctgtgatttttcatgtcca	5	13	13	10	0	1	1	1	1	0	0	2	1	2	1	2	4	1	3	2	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:82784980G>T	ENST00000333891.9	-	2	1314	c.977C>A	c.(976-978)cCt>cAt	p.P326H	PCLO_ENST00000423517.2_Missense_Mutation_p.P326H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGCAGGCCCAGGCTGTGATTT	0.552													T	82784980	G	T	82784980	3	4	364	1	0	0	0	0	1	0	0	0	11659	1000	35	4	14564	4	PCLO	7	82784980	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20579	82784980	76353683	6117	29619											
SEMA3E	9723	broad.mit.edu	37	chr7	83014660	83014660	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaccagataactttcgCttgtaaagatcgtggggtac	13	11	9	8	2	0	2	0	0	0	2	2	2	0	2	1	2	4	3	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83014660C>A	ENST00000307792.3	-	16	2292	c.1825G>T	c.(1825-1827)Gcg>Tcg	p.A609S	SEMA3E_ENST00000427262.1_Missense_Mutation_p.A549S	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	609	Ig-like C2-type.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAACTTTCGCTTGTAAAGAT	0.398													A	83014660	C	A	83014660	3	1	364	1	0	0	0	0	1	0	0	0	14121	797	28	4	510	4	SEMA3E	7	83014660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229680	83014660	76124003	6118	29620											
SEMA3E	9723	broad.mit.edu	37	chr7	83032043	83032043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtccgttgaaggctgcccGaatgctagacatgtgataga	10	10	13	8	2	0	4	0	2	0	2	1	5	1	4	2	2	2	3	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83032043G>A	ENST00000307792.3	-	10	1515	c.1048C>T	c.(1048-1050)Cgg>Tgg	p.R350W	SEMA3E_ENST00000427262.1_Missense_Mutation_p.R290W	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	350	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAGGCTGCCCGAATGCTAGAC	0.408													A	83032043	G	A	83032043	3	1	364	1	0	0	0	0	1	0	0	0	14121	1057	37	1	1311	1	SEMA3E	7	83032043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17383	83032043	76106620	6119	29621											
SEMA3E	9723	broad.mit.edu	37	chr7	83119465	83119465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgattctctccaagctgaGggaatatacaaggtccctgc	11	10	9	11	0	1	2	0	2	1	0	4	3	3	3	2	2	3	1	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83119465G>T	ENST00000307792.3	-	2	708	c.241C>A	c.(241-243)Ctc>Atc	p.L81I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.L21I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	81	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TCCAAGCTGAGGGAATATACA	0.403													T	83119465	G	T	83119465	3	4	364	1	0	0	0	0	1	0	0	0	14121	1000	35	4	2150	4	SEMA3E	7	83119465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87422	83119465	76019198	6120	29622											
SEMA3A	10371	broad.mit.edu	37	chr7	83592532	83592532	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgtacctcttcttttcGctcttcatttcgcctctgga	3	19	5	14	2	5	0	1	0	4	0	8	1	6	1	3	1	1	2	3	1	1	7	rs144701441		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592532G>A	ENST00000265362.4	-	16	2163	c.1849C>T	c.(1849-1851)Cga>Tga	p.R617*	SEMA3A_ENST00000436949.1_Nonsense_Mutation_p.R617*	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						TCTTCTTTTCGCTCTTCATTT	0.388													A	83592532	G	A	83592532	4	1	364	1	0	0	0	0	0	1	0	0	14117	1095	38	1	474	1	SEMA3A	7	83592532	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	473067	83592532	75546131	6121	29623											
SEMA3A	10371	broad.mit.edu	37	chr7	83592606	83592606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgcattccaaaaatgtgCtactattctctacaccatag	13	12	5	11	0	1	0	0	0	1	0	3	1	2	0	2	0	4	2	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83592606C>A	ENST00000265362.4	-	16	2089	c.1775G>T	c.(1774-1776)aGc>aTc	p.S592I	SEMA3A_ENST00000436949.1_Missense_Mutation_p.S592I	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Ig-like C2-type.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAAAAATGTGCTACTATTCTC	0.438													A	83592606	C	A	83592606	3	1	364	1	0	0	0	0	1	0	0	0	14117	797	28	4	548	4	SEMA3A	7	83592606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74	83592606	75546057	6122	29624											
SEMA3A	10371	broad.mit.edu	37	chr7	83610649	83610649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcctacctctttgcagtgGgaaaatagcgagaacatgca	12	11	9	9	1	1	1	0	0	1	1	2	3	2	2	2	1	5	2	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:83610649G>T	ENST00000265362.4	-	14	1954	c.1640C>A	c.(1639-1641)cCc>cAc	p.P547H	SEMA3A_ENST00000436949.1_Missense_Mutation_p.P547H	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGCAGTGGGAAAATAGCG	0.408													T	83610649	G	T	83610649	3	4	364	1	0	0	0	0	1	0	0	0	14117	1232	43	4	691	4	SEMA3A	7	83610649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18043	83610649	75528014	6123	29625											
SEMA3D	223117	broad.mit.edu	37	chr7	84628908	84628908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctgttcgcagtactggtCgaggctgaagtttgggctgc	6	12	14	9	2	1	1	0	1	1	0	3	2	1	1	0	3	2	6	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84628908C>T	ENST00000284136.6	-	17	2225	c.2182G>A	c.(2182-2184)Gac>Aac	p.D728N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	728					cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CAGTACTGGTCGAGGCTGAAG	0.507													T	84628908	C	T	84628908	3	4	364	1	0	0	0	0	1	0	0	0	14120	884	31	1	155	1	SEMA3D	7	84628908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1018259	84628908	74509755	6124	29626											
SEMA3D	223117	broad.mit.edu	37	chr7	84636118	84636118	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgacaacagcttacCtcctctcgatgctcatcccc	8	12	5	16	1	2	2	1	2	1	0	5	3	4	2	4	0	4	2	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84636118C>A	ENST00000284136.6	-	16	1951	c.1908G>T	c.(1906-1908)gaG>gaT	p.E636D	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	636	Ig-like C2-type.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						AACAGCTTACCTCCTCTCGAT	0.373													A	84636118	C	A	84636118	5	1	364	1	0	0	0	0	0	0	1	0	14120	695	24	4	433	4	SEMA3D	7	84636118	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7210	84636118	74502545	6125	29627											
SEMA3D	223117	broad.mit.edu	37	chr7	84666263	84666263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccaacgatggtctgcaCtttccttatgagcatatgga	10	11	9	11	1	1	1	0	1	1	0	2	3	2	2	2	2	3	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:84666263C>T	ENST00000284136.6	-	10	1176	c.1133G>A	c.(1132-1134)aGt>aAt	p.S378N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	378	Sema.				cell differentiation|nervous system development	extracellular region|membrane	receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						ATGGTCTGCACTTTCCTTATG	0.403													T	84666263	C	T	84666263	3	4	364	1	0	0	0	0	1	0	0	0	14120	565	20	2	1232	2	SEMA3D	7	84666263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30145	84666263	74472400	6126	29628											
GRM3	2913	broad.mit.edu	37	chr7	86394808	86394808	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagtttgtcagggcatCtttgacaaaagtggatgaag	12	11	13	5	0	2	2	1	2	1	0	2	4	2	4	0	3	0	2	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394808C>A	ENST00000361669.2	+	2	1446	c.347C>A	c.(346-348)tCt>tAt	p.S116Y	GRM3_ENST00000439827.1_Missense_Mutation_p.S116Y|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.S114Y	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	116					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GTCAGGGCATCTTTGACAAAA	0.443													A	86394808	C	A	86394808	3	1	364	1	0	0	0	0	1	0	0	0	6853	913	32	4	349	4	GRM3	7	86394808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1728545	86394808	72743855	6127	29629											
GRM3	2913	broad.mit.edu	37	chr7	86394888	86394888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaacatcccacttctcattGcaggggtcattggtggctct	9	12	9	11	0	3	0	2	0	2	0	5	0	4	0	1	4	2	2	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86394888G>A	ENST00000361669.2	+	2	1526	c.427G>A	c.(427-429)Gca>Aca	p.A143T	GRM3_ENST00000439827.1_Missense_Mutation_p.A143T|GRM3_ENST00000536043.1_Intron|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.A141T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	143					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACTTCTCATTGCAGGGGTCAT	0.428													A	86394888	G	A	86394888	3	1	364	1	0	0	0	0	1	0	0	0	6853	1319	46	2	429	2	GRM3	7	86394888	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80	86394888	72743775	6128	29630											
GRM3	2913	broad.mit.edu	37	chr7	86468230	86468230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggaatggggcgatacaAcgtgttcaatttccaaaatg	14	10	11	6	2	1	1	1	0	0	1	2	3	2	2	1	3	2	1	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86468230A>G	ENST00000361669.2	+	4	2499	c.1400A>G	c.(1399-1401)aAc>aGc	p.N467S	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.N339S|GRM3_ENST00000546348.1_Missense_Mutation_p.N59S|GRM3_ENST00000394720.2_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	467					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GGGCGATACAACGTGTTCAAT	0.403													G	86468230	A	G	86468230	3	3	364	1	0	0	0	0	1	0	0	0	6853	43	2	3	1410	3	GRM3	7	86468230	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	73342	86468230	72670433	6129	29631											
DMTF1	9988	broad.mit.edu	37	chr7	86803975	86803975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgatgaacaatattgaacGctatcttaaggtatcttatg	13	16	7	5	1	2	3	0	3	2	0	2	3	2	3	0	1	2	2	0	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86803975G>A	ENST00000394703.5	+	9	1072	c.509G>A	c.(508-510)cGc>cAc	p.R170H	DMTF1_ENST00000414194.2_5'UTR|DMTF1_ENST00000413276.2_Missense_Mutation_p.R170H|DMTF1_ENST00000432937.2_Missense_Mutation_p.R82H|DMTF1_ENST00000394702.3_Missense_Mutation_p.R170H|DMTF1_ENST00000331242.7_Missense_Mutation_p.R170H|DMTF1_ENST00000411766.2_Missense_Mutation_p.R129H	NM_021145.3	NP_066968.3	Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	170	Interaction with CCND2 (By similarity).|Required for DNA-binding (By similarity).|Required for transcriptional activation (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					AATATTGAACGCTATCTTAAG	0.303													A	86803975	G	A	86803975	3	1	364	1	0	0	0	0	1	0	0	0	4631	1087	38	1	527	1	DMTF1	7	86803975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335745	86803975	72334688	6130	29632											
DMTF1	9988	broad.mit.edu	37	chr7	86823402	86823402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccctctgatttagccaGtgcttatgttactgaggtaa	10	14	8	9	0	2	2	1	2	1	0	2	2	2	2	2	1	3	3	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86823402G>T	ENST00000414194.2	+	16	3006	c.1214G>T	c.(1213-1215)aGt>aTt	p.S405I	DMTF1_ENST00000413276.2_Missense_Mutation_p.S601I|DMTF1_ENST00000394703.5_Missense_Mutation_p.S671I|DMTF1_ENST00000432937.2_Missense_Mutation_p.S583I|DMTF1_ENST00000331242.7_Missense_Mutation_p.S671I			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	671	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					GATTTAGCCAGTGCTTATGTT	0.398													T	86823402	G	T	86823402	3	4	364	1	0	0	0	0	1	0	0	0	4631	1029	36	4	2066	4	DMTF1	7	86823402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19427	86823402	72315261	6131	29633											
DMTF1	9988	broad.mit.edu	37	chr7	86824052	86824052	+	Frame_Shift_Del	DEL	A	A	-																															tgatcaaacaattgatgatgAaacaatacttatcgttcctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:86824052delA	ENST00000414194.2	+	17	3075	c.1283delA	c.(1282-1284)gaafs	p.E428fs	DMTF1_ENST00000394703.5_Frame_Shift_Del_p.E694fs|DMTF1_ENST00000413276.2_Frame_Shift_Del_p.E624fs|DMTF1_ENST00000331242.7_Frame_Shift_Del_p.E694fs|DMTF1_ENST00000432937.2_Frame_Shift_Del_p.E606fs			Q9Y222	DMTF1_HUMAN	cyclin D binding myb-like transcription factor 1	694	Interaction with CCND1, CCND2 and CCND3 (By similarity).|Required for DNA-binding (By similarity).				cell cycle	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)	16	Esophageal squamous(14;0.0058)					ATTGATGATGAAACAATACTT	0.333													-	86824052	A	-	86824052	7	5	364	1	0	1	0	1	0	0	0	0	4631	246	9	0	2139	0	DMTF1	7	86824052	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	650	86824052	72314611	6132	29634											
ABCB4	5244	broad.mit.edu	37	chr7	87043000	87043000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgggtcaaagacacaaCtgtcctaatattttctattg	11	15	6	9	0	2	1	1	0	1	1	4	1	4	1	2	1	1	0	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87043000C>T	ENST00000265723.4	-	22	2827	c.2716G>A	c.(2716-2718)Gtt>Att	p.V906I	ABCB4_ENST00000453593.1_Missense_Mutation_p.V906I|ABCB4_ENST00000359206.3_Missense_Mutation_p.V906I|ABCB4_ENST00000545634.1_Missense_Mutation_p.V906I|ABCB4_ENST00000358400.3_Missense_Mutation_p.V906I	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	906	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AAAGACACAACTGTCCTAATA	0.343													T	87043000	C	T	87043000	3	4	364	1	0	0	0	0	1	0	0	0	43	565	20	2	1172	2	ABCB4	7	87043000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218948	87043000	72095663	6133	29635											
ABCB4	5244	broad.mit.edu	37	chr7	87069024	87069024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcagcttcactttctgtgtCcaatgctgacgtggcctcat	6	14	8	13	1	4	1	3	1	1	0	5	1	5	1	2	1	2	2	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87069024C>T	ENST00000265723.4	-	14	1801	c.1690G>A	c.(1690-1692)Gac>Aac	p.D564N	ABCB4_ENST00000453593.1_Missense_Mutation_p.D564N|ABCB4_ENST00000359206.3_Missense_Mutation_p.D564N|ABCB4_ENST00000545634.1_Missense_Mutation_p.D564N|ABCB4_ENST00000358400.3_Missense_Mutation_p.D564N	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	564	ABC transporter 1.		D -> G (in PFIC3).		cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTTTCTGTGTCCAATGCTGAC	0.527													T	87069024	C	T	87069024	3	4	364	1	0	0	0	0	1	0	0	0	43	855	30	2	2230	2	ABCB4	7	87069024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26024	87069024	72069639	6134	29636											
ABCB1	5243	broad.mit.edu	37	chr7	87180053	87180053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttacattatcaattatCttgaagatttcataagctgc	14	15	5	7	0	3	3	2	1	1	2	3	3	3	3	0	0	3	1	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87180053C>A	ENST00000265724.3	-	11	1518	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	ABCB1_ENST00000543898.1_Missense_Mutation_p.K303N	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	367					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)	TATCAATTATCTTGAAGATTT	0.368													A	87180053	C	A	87180053	3	1	364	1	0	0	0	0	1	0	0	0	40	912	32	4	2817	4	ABCB1	7	87180053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111029	87180053	71958610	6135	29637											
RUNDC3B	154661	broad.mit.edu	37	chr7	87339908	87339908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagcctggatcagagtagCactcatggaaaaacatttat	15	10	9	7	0	2	2	2	0	0	2	2	4	2	4	1	2	3	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87339908C>T	ENST00000338056.3	+	5	857	c.446C>T	c.(445-447)gCa>gTa	p.A149V	RUNDC3B_ENST00000394654.3_Missense_Mutation_p.A132V|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000493037.1_Missense_Mutation_p.A132V|ABCB1_ENST00000265724.3_Intron	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	149	RUN.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					ATCAGAGTAGCACTCATGGAA	0.289													T	87339908	C	T	87339908	3	4	364	1	0	0	0	0	1	0	0	0	13836	710	25	2	464	2	RUNDC3B	7	87339908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159855	87339908	71798755	6136	29638											
SLC25A40	55972	broad.mit.edu	37	chr7	87476283	87476283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagaaaggtacatctctAagaacagtaggagcccagcc	14	6	10	11	0	1	2	0	1	1	2	2	4	1	3	3	2	4	2	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476283A>G	ENST00000341119.5	-	8	958	c.612T>C	c.(610-612)ctT>ctC	p.L204L		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	204					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					GTACATCTCTAAGAACAGTAG	0.378													G	87476283	A	G	87476283	2	3	364	1	0	0	0	0	0	0	0	1	14599	349	13	3		3	SLC25A40	7	87476283	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	136375	87476283	71662380	6137	29639											
SLC25A40	55972	broad.mit.edu	37	chr7	87476301	87476301	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaagaacagtaggagcccaGcccctccaaagggaaatcca	15	4	9	13	0	0	1	0	0	0	1	2	3	2	3	5	2	3	1	5	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87476301G>A	ENST00000341119.5	-	8	940	c.594C>T	c.(592-594)ggC>ggT	p.G198G		NM_018843.3	NP_061331.2	Q8TBP6	S2540_HUMAN	solute carrier family 25, member 40	198					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	17	Esophageal squamous(14;0.00202)					TAGGAGCCCAGCCCCTCCAAA	0.388													A	87476301	G	A	87476301	2	1	364	1	0	0	0	0	0	0	0	1	14599	958	34	2		2	SLC25A40	7	87476301	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18	87476301	71662362	6138	29640											
DBF4	10926	broad.mit.edu	37	chr7	87526619	87526620	+	Frame_Shift_Ins	INS	-	-	A																															gttctcaagcaggaagactcINSaaaaagccttttgtaaaggt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87526619_87526620insA	ENST00000265728.1	+	8	1149_1150	c.645_646insA	c.(646-648)aaafs	p.K216fs		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	216					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				CAGGAAGACTCAAAAAGCCTTT	0.317													A	87526620	-	A	87526619	7	5	364	1	0	1	1	0	0	0	0	0	4282	813	29	0	675	0	DBF4	7	87526619	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	50318	87526619	71612044	6139	29641											
DBF4	10926	broad.mit.edu	37	chr7	87536520	87536520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagaataaaatacagtgttgGatccctttctcctgtttctg	11	15	7	8	0	2	1	0	0	2	1	4	2	3	2	2	1	1	2	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536520G>T	ENST00000265728.1	+	12	1571	c.1067G>T	c.(1066-1068)gGa>gTa	p.G356V		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	356					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TACAGTGTTGGATCCCTTTCT	0.299													T	87536520	G	T	87536520	3	4	364	1	0	0	0	0	1	0	0	0	4282	1174	41	4	1113	4	DBF4	7	87536520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9901	87536520	71602143	6140	29642											
DBF4	10926	broad.mit.edu	37	chr7	87536622	87536622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgccaggaagatgataCaacagtgaaggagcagaatt	17	7	12	5	0	0	5	0	2	0	3	0	7	0	7	1	2	4	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536622C>T	ENST00000265728.1	+	12	1673	c.1169C>T	c.(1168-1170)aCa>aTa	p.T390I		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	390					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				GAAGATGATACAACAGTGAAG	0.403													T	87536622	C	T	87536622	3	4	364	1	0	0	0	0	1	0	0	0	4282	478	17	2	1215	2	DBF4	7	87536622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	87536622	71602041	6141	29643											
DBF4	10926	broad.mit.edu	37	chr7	87536982	87536982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaaaacagaagtcagataCtgtgctttttccagcaaagg	15	9	8	9	0	1	2	1	0	0	2	2	2	2	2	2	1	4	2	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87536982C>A	ENST00000265728.1	+	12	2033	c.1529C>A	c.(1528-1530)aCt>aAt	p.T510N		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	510					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				AAGTCAGATACTGTGCTTTTT	0.363													A	87536982	C	A	87536982	3	1	364	1	0	0	0	0	1	0	0	0	4282	565	20	4	1575	4	DBF4	7	87536982	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	360	87536982	71601681	6142	29644											
ADAM22	53616	broad.mit.edu	37	chr7	87795162	87795162	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaggtttgcagtaatgagCtgaagtgtgtgtgtaacaga	11	12	13	5	0	1	3	1	2	0	1	1	3	1	3	0	1	3	5	0	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87795162C>T	ENST00000398204.4	+	24	2415	c.2092C>T	c.(2092-2094)Ctg>Ttg	p.L698L	ADAM22_ENST00000398209.3_Silent_p.L698L|ADAM22_ENST00000315984.7_Silent_p.L698L|ADAM22_ENST00000398201.4_Silent_p.L698L|ADAM22_ENST00000265727.7_Silent_p.L698L	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	698	EGF-like.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGTAATGAGCTGAAGTGTGT	0.378													T	87795162	C	T	87795162	2	4	364	1	0	0	0	0	0	0	0	1	244	796	28	2		2	ADAM22	7	87795162	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258180	87795162	71343501	6143	29645											
ADAM22	53616	broad.mit.edu	37	chr7	87822530	87822530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcctgatgaggacaaGaaagtgaaccgacaaagtgc	15	6	10	10	1	0	4	0	3	0	1	1	6	1	5	3	1	2	0	3	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:87822530G>T	ENST00000398204.4	+	29	2891	c.2568G>T	c.(2566-2568)aaG>aaT	p.K856N	ADAM22_ENST00000398209.3_Missense_Mutation_p.K885N|ADAM22_ENST00000315984.7_Missense_Mutation_p.K885N|ADAM22_ENST00000265727.7_Missense_Mutation_p.K892N	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	892					cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			ATGAGGACAAGAAAGTGAACC	0.428													T	87822530	G	T	87822530	3	4	364	1	0	0	0	0	1	0	0	0	244	933	33	4	2889	4	ADAM22	7	87822530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27368	87822530	71316133	6144	29646											
ZNF804B	219578	broad.mit.edu	37	chr7	88965809	88965809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccagcagcatatgcagaaGcaactcctatcaaagcatct	14	7	7	13	0	2	1	1	0	1	1	3	1	3	1	2	0	6	5	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:88965809G>T	ENST00000333190.4	+	4	4122	c.3513G>T	c.(3511-3513)aaG>aaT	p.K1171N		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	1171						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			ATATGCAGAAGCAACTCCTAT	0.468										HNSCC(36;0.09)			T	88965809	G	T	88965809	3	4	364	1	0	0	0	0	1	0	0	0	18270	962	34	4	3527	4	ZNF804B	7	88965809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1143279	88965809	70172854	6145	29647											
C7orf63	79846	broad.mit.edu	37	chr7	89909125	89909125	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgccactttgtcatcagtGgctcctttattaatagaaga	11	15	7	8	0	2	2	2	0	0	2	3	2	3	2	2	1	1	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89909125G>T	ENST00000389297.4	+	12	1541	c.1290G>T	c.(1288-1290)gtG>gtT	p.V430V	C7orf63_ENST00000316089.8_Silent_p.V430V|C7orf63_ENST00000497910.1_Silent_p.V412V	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	430							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						TGTCATCAGTGGCTCCTTTAT	0.418											OREG0003793	type=REGULATORY REGION|Gene=AK024715|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	89909125	G	T	89909125	2	4	364	1	0	0	0	0	0	0	0	1	2433	1335	47	4		4	C7orf63	7	89909125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	943316	89909125	69229538	6146	29648											
C7orf63	79846	broad.mit.edu	37	chr7	89915682	89915682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatatattacttatcctatCtggcctttgtgagaatcaca	11	16	6	8	0	2	2	1	2	1	1	3	3	3	2	2	1	1	0	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89915682C>A	ENST00000389297.4	+	14	1876	c.1625C>A	c.(1624-1626)tCt>tAt	p.S542Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.S542Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.S524Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	542							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CTTATCCTATCTGGCCTTTGT	0.348													A	89915682	C	A	89915682	3	1	364	1	0	0	0	0	1	0	0	0	2433	913	32	4	1679	4	C7orf63	7	89915682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6557	89915682	69222981	6147	29649											
C7orf63	79846	broad.mit.edu	37	chr7	89936342	89936342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattggaaagatggttgcttCtctgcaaagtgatataattg	12	15	10	4	0	1	2	0	1	1	1	2	3	1	3	0	2	2	3	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:89936342C>A	ENST00000389297.4	+	20	2644	c.2393C>A	c.(2392-2394)tCt>tAt	p.S798Y	C7orf63_ENST00000316089.8_Missense_Mutation_p.S752Y|C7orf63_ENST00000497910.1_Missense_Mutation_p.S780Y	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	798							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						ATGGTTGCTTCTCTGCAAAGT	0.338													A	89936342	C	A	89936342	3	1	364	1	0	0	0	0	1	0	0	0	2433	913	32	4	2471	4	C7orf63	7	89936342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20660	89936342	69202321	6148	29650											
GTPBP10	85865	broad.mit.edu	37	chr7	90012310	90012310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaacttcagacaaaacctgCactcttggcagttaataaaa	16	9	7	9	0	2	1	1	0	1	1	2	2	2	2	1	2	3	3	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90012310C>T	ENST00000222511.6	+	9	884	c.818C>T	c.(817-819)gCa>gTa	p.A273V	GTPBP10_ENST00000257659.8_Missense_Mutation_p.A194V	NM_033107.3	NP_149098.2	A4D1E9	GTPBA_HUMAN	GTP-binding protein 10 (putative)	273					ribosome biogenesis	chromosome|nucleolus	GTP binding|GTPase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(4)	10						ACAAAACCTGCACTCTTGGCA	0.353													T	90012310	C	T	90012310	3	4	364	1	0	0	0	0	1	0	0	0	6934	710	25	2	852	2	GTPBP10	7	90012310	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75968	90012310	69126353	6149	29651											
CDK14	5218	broad.mit.edu	37	chr7	90613515	90613515	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagttgctgcttttccaGgaatgaaagacattcaggat	13	11	11	6	0	1	2	1	1	0	1	2	5	2	5	1	3	2	3	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90613515G>T	ENST00000406263.1	+	9	1304	c.862G>T	c.(862-864)Gga>Tga	p.G288*	CDK14_ENST00000265741.3_Nonsense_Mutation_p.G316*|CDK14_ENST00000436577.2_Nonsense_Mutation_p.G205*|CDK14_ENST00000380050.3_Nonsense_Mutation_p.G334*			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	334	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TGCTTTTCCAGGAATGAAAGA	0.353													T	90613515	G	T	90613515	4	4	364	1	0	0	0	0	0	1	0	0	3160	1001	35	4	980	4	CDK14	7	90613515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	601205	90613515	68525148	6150	29652											
FZD1	8321	broad.mit.edu	37	chr7	90896036	90896036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttatgacgctgatcgtggGcatcacgtcgggcttctgga	6	11	13	11	4	2	2	1	2	1	0	4	3	2	3	1	3	0	3	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:90896036G>A	ENST00000287934.2	+	1	2254	c.1841G>A	c.(1840-1842)gGc>gAc	p.G614D		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	614					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			CTGATCGTGGGCATCACGTCG	0.607													A	90896036	G	A	90896036	3	1	364	1	0	0	0	0	1	0	0	0	6180	1203	42	2	1843	2	FZD1	7	90896036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282521	90896036	68242627	6151	29653											
AKAP9	10142	broad.mit.edu	37	chr7	91671467	91671467	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggaagagagaagctgtgTtgtgagctgcgcaacagcag	11	7	16	7	1	0	3	0	1	0	2	0	5	0	4	0	1	5	6	0	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91671467T>G	ENST00000359028.2	+	20	5286	c.5061T>G	c.(5059-5061)tgT>tgG	p.C1687W	AKAP9_ENST00000358100.2_Missense_Mutation_p.C1687W|AKAP9_ENST00000356239.3_Missense_Mutation_p.C1675W			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1687					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			AGAAGCTGTGTTGTGAGCTGC	0.463			T	BRAF	papillary thyroid								G	91671467	T	G	91671467	3	3	364	1	0	0	0	0	1	0	0	0	459	1731	60	5	5099	5	AKAP9	7	91671467	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	775431	91671467	67467196	6152	29654											
AKAP9	10142	broad.mit.edu	37	chr7	91690677	91690677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaggaacttcgagagcGccttcatgaggagtccaggg	11	6	14	10	2	1	3	1	1	0	2	3	6	2	5	3	3	2	0	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91690677G>A	ENST00000359028.2	+	24	5966	c.5741G>A	c.(5740-5742)cGc>cAc	p.R1914H	AKAP9_ENST00000358100.2_Missense_Mutation_p.R1914H|AKAP9_ENST00000491695.1_3'UTR|AKAP9_ENST00000356239.3_Missense_Mutation_p.R1902H			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1914	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTTCGAGAGCGCCTTCATGAG	0.483			T	BRAF	papillary thyroid								A	91690677	G	A	91690677	3	1	364	1	0	0	0	0	1	0	0	0	459	1087	38	1	5795	1	AKAP9	7	91690677	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19210	91690677	67447986	6153	29655											
AKAP9	10142	broad.mit.edu	37	chr7	91708647	91708647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagctggccttggaacaGcaagtagaaaccgctaatga	16	6	11	8	1	0	2	0	1	0	1	0	4	0	3	2	2	4	4	2	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91708647G>A	ENST00000359028.2	+	32	7461	c.7236G>A	c.(7234-7236)caG>caA	p.Q2412Q	AKAP9_ENST00000358100.2_Silent_p.Q2412Q|AKAP9_ENST00000356239.3_Silent_p.Q2400Q			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	2412	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CCTTGGAACAGCAAGTAGAAA	0.358			T	BRAF	papillary thyroid								A	91708647	G	A	91708647	2	1	364	1	0	0	0	0	0	0	0	1	459	962	34	2		2	AKAP9	7	91708647	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17970	91708647	67430016	6154	29656											
AKAP9	10142	broad.mit.edu	37	chr7	91715584	91715584	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagagcttctcagactggCgaggtgaactactgcttgcc	9	10	12	10	1	1	3	1	2	1	2	2	5	1	3	1	2	5	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91715584C>T	ENST00000359028.2	+	37	9304	c.9079C>T	c.(9079-9081)Cga>Tga	p.R3027*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.R2973*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.R3023*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3027					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTCAGACTGGCGAGGTGAACT	0.393			T	BRAF	papillary thyroid								T	91715584	C	T	91715584	4	4	364	1	0	0	0	0	0	1	0	0	459	760	27	1	9213	1	AKAP9	7	91715584	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6937	91715584	67423079	6155	29657											
AKAP9	10142	broad.mit.edu	37	chr7	91731986	91731986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaatacctgctgctgttaCtgggtgggttccaggaatgt	9	12	13	7	0	0	1	0	0	0	1	1	2	1	2	2	3	4	4	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91731986C>A	ENST00000359028.2	+	46	11413	c.11188C>A	c.(11188-11190)Ctg>Atg	p.L3730M	AKAP9_ENST00000358100.2_Missense_Mutation_p.L3676M|AKAP9_ENST00000356239.3_Missense_Mutation_p.L3726M			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3730	Poly-Leu.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCTGCTGTTACTGGGTGGGTT	0.488			T	BRAF	papillary thyroid								A	91731986	C	A	91731986	3	1	364	1	0	0	0	0	1	0	0	0	459	564	20	4	11358	4	AKAP9	7	91731986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16402	91731986	67406677	6156	29658											
CYP51A1	1595	broad.mit.edu	37	chr7	91758259	91758259	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaggcgactgtagacatCttctgcattcaggtcttcat	8	14	9	10	1	6	1	3	0	3	1	6	2	6	1	0	2	1	2	0	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91758259C>A	ENST00000003100.8	-	3	568	c.403G>T	c.(403-405)Gat>Tat	p.D135Y	CYP51A1_ENST00000450723.1_Missense_Mutation_p.D30Y|LRRD1_ENST00000422722.1_5'UTR	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	129					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTGTAGACATCTTCTGCATTC	0.413													A	91758259	C	A	91758259	3	1	364	1	0	0	0	0	1	0	0	0	4228	913	32	4	1158	4	CYP51A1	7	91758259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26273	91758259	67380404	6157	29659											
KRIT1	889	broad.mit.edu	37	chr7	91830633	91830633	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atacttacctgttttgtatgTactataaagctcattttatt	11	20	4	6	0	1	0	1	0	0	0	1	0	1	0	1	0	4	4	1	0	8	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91830633T>C	ENST00000394507.1	-	19	2913	c.2130A>G	c.(2128-2130)gtA>gtG	p.V710V	KRIT1_ENST00000394505.2_Silent_p.V710V|KRIT1_ENST00000340022.2_Silent_p.V710V|AC000120.7_ENST00000414227.1_RNA|KRIT1_ENST00000394503.2_Silent_p.V662V|KRIT1_ENST00000412043.2_Silent_p.V710V	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	710	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GTTTTGTATGTACTATAAAGC	0.289													C	91830633	T	C	91830633	2	2	364	1	0	0	0	0	0	0	0	1	8503	1625	57	3		3	KRIT1	7	91830633	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	72374	91830633	67308030	6158	29660											
KRIT1	889	broad.mit.edu	37	chr7	91844019	91844019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcagcttagcatcaggagCtgtataaaagcccttcaata	14	11	7	9	0	3	0	3	0	0	0	3	1	3	1	1	1	4	4	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91844019C>A	ENST00000394507.1	-	16	2419	c.1636G>T	c.(1636-1638)Gct>Tct	p.A546S	KRIT1_ENST00000394505.2_Missense_Mutation_p.A546S|KRIT1_ENST00000340022.2_Missense_Mutation_p.A546S|KRIT1_ENST00000394503.2_Missense_Mutation_p.A498S|KRIT1_ENST00000412043.2_Missense_Mutation_p.A546S	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	546	FERM.|Required for RAP1A binding.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GCATCAGGAGCTGTATAAAAG	0.328													A	91844019	C	A	91844019	3	1	364	1	0	0	0	0	1	0	0	0	8503	797	28	4	594	4	KRIT1	7	91844019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13386	91844019	67294644	6159	29661											
KRIT1	889	broad.mit.edu	37	chr7	91852280	91852280	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatccattctgtatattcGaactttttcatactacaaga	12	15	3	11	1	2	1	1	0	1	1	4	2	3	1	2	0	3	1	2	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:91852280G>A	ENST00000394507.1	-	14	2050	c.1267C>T	c.(1267-1269)Cga>Tga	p.R423*	KRIT1_ENST00000394505.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000340022.2_Nonsense_Mutation_p.R423*|KRIT1_ENST00000394503.2_Nonsense_Mutation_p.R375*|KRIT1_ENST00000412043.2_Nonsense_Mutation_p.R423*	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	423	FERM.				angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			CTGTATATTCGAACTTTTTCA	0.343													A	91852280	G	A	91852280	4	1	364	1	0	0	0	0	0	1	0	0	8503	1066	37	1	971	1	KRIT1	7	91852280	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8261	91852280	67286383	6160	29662											
PEX1	5189	broad.mit.edu	37	chr7	92126080	92126080	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccaatgtatttgctgagTaactctggcccctattgggt	7	14	10	10	0	1	1	0	1	1	0	2	1	2	1	3	2	2	4	3	2	4	5	rs61750423		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92126080T>C	ENST00000248633.4	-	17	2825	c.2730A>G	c.(2728-2730)ttA>ttG	p.L910L	PEX1_ENST00000541751.1_3'UTR|PEX1_ENST00000438045.1_Silent_p.L588L|PEX1_ENST00000428214.1_Silent_p.L853L	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	910					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			ATTTGCTGAGTAACTCTGGCC	0.303													C	92126080	T	C	92126080	2	2	364	1	0	0	0	0	0	0	0	1	11812	1635	57	3		3	PEX1	7	92126080	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	273800	92126080	67012583	6161	29663											
SAMD9	54809	broad.mit.edu	37	chr7	92730919	92730919	+	Frame_Shift_Del	DEL	T	T	-																															cttcttaaagcactggtcaaTttttcctttgtgaacaagtc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92730919delT	ENST00000379958.2	-	3	4761	c.4492delA	c.(4492-4494)attfs	p.I1498fs		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1498						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CACTGGTCAATTTTTCCTTTG	0.378													-	92730919	T	-	92730919	7	5	364	1	0	1	0	1	0	0	0	0	13917	1493	52	0	281	0	SAMD9	7	92730919	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	604839	92730919	66407744	6162	29664											
SAMD9	54809	broad.mit.edu	37	chr7	92731698	92731698	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtttggatcccctggaAtatcactacttcctgataca	10	14	6	11	0	1	1	1	1	0	0	3	3	3	3	3	2	2	1	3	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92731698A>C	ENST00000379958.2	-	3	3982	c.3713T>G	c.(3712-3714)aTt>aGt	p.I1238S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1238						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATCCCCTGGAATATCACTACT	0.274													C	92731698	A	C	92731698	3	2	364	1	0	0	0	0	1	0	0	0	13917	101	4	5	1060	5	SAMD9	7	92731698	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	779	92731698	66406965	6163	29665											
SAMD9	54809	broad.mit.edu	37	chr7	92732292	92732292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccttcatgttcatcgCggtgtcttgtgagtaggagt	6	16	11	8	2	4	1	3	1	1	0	5	2	4	2	1	2	0	2	1	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92732292C>T	ENST00000379958.2	-	3	3388	c.3119G>A	c.(3118-3120)cGc>cAc	p.R1040H		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1040						cytoplasm		p.R1040L(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGTTCATCGCGGTGTCTTGT	0.363													T	92732292	C	T	92732292	3	4	364	1	0	0	0	0	1	0	0	0	13917	768	27	1	1654	1	SAMD9	7	92732292	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594	92732292	66406371	6164	29666											
SAMD9L	219285	broad.mit.edu	37	chr7	92761246	92761246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctttgtagtttggattaaGatattccaagagtccagcaa	13	14	8	6	0	1	2	0	0	1	2	3	3	3	3	2	1	1	3	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761246G>A	ENST00000318238.4	-	5	5255	c.4039C>T	c.(4039-4041)Ctt>Ttt	p.L1347F	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1347F|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1347F	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1347										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			TTTGGATTAAGATATTCCAAG	0.388													A	92761246	G	A	92761246	3	1	364	1	0	0	0	0	1	0	0	0	13918	942	33	2	719	2	SAMD9L	7	92761246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28954	92761246	66377417	6165	29667											
SAMD9L	219285	broad.mit.edu	37	chr7	92761672	92761672	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatctggatagtgtaaaGaccaacttctatttcaccca	15	11	6	9	0	3	2	1	0	2	2	3	3	3	3	2	1	1	1	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92761672G>T	ENST00000318238.4	-	5	4829	c.3613C>A	c.(3613-3615)Ctt>Att	p.L1205I	SAMD9L_ENST00000437805.1_Missense_Mutation_p.L1205I|SAMD9L_ENST00000411955.1_Missense_Mutation_p.L1205I	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	1205										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			ATAGTGTAAAGACCAACTTCT	0.373													T	92761672	G	T	92761672	3	4	364	1	0	0	0	0	1	0	0	0	13918	942	33	4	1145	4	SAMD9L	7	92761672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426	92761672	66376991	6166	29668											
SAMD9L	219285	broad.mit.edu	37	chr7	92762300	92762300	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccagttcttttagacaGtacagggcaatcagagggtg	10	12	11	8	0	2	2	1	0	1	2	3	2	3	2	1	2	1	3	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762300G>A	ENST00000318238.4	-	5	4201	c.2985C>T	c.(2983-2985)taC>taT	p.Y995Y	SAMD9L_ENST00000437805.1_Silent_p.Y995Y|SAMD9L_ENST00000411955.1_Silent_p.Y995Y	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	995										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTTTAGACAGTACAGGGCAA	0.353													A	92762300	G	A	92762300	2	1	364	1	0	0	0	0	0	0	0	1	13918	1024	36	2		2	SAMD9L	7	92762300	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	628	92762300	66376363	6167	29669											
SAMD9L	219285	broad.mit.edu	37	chr7	92762895	92762895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccacaaggagaagcacaGgaatgtaatcctgatggctc	14	7	10	10	0	0	2	0	1	0	1	3	4	2	3	2	3	1	3	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92762895G>T	ENST00000318238.4	-	5	3606	c.2390C>A	c.(2389-2391)cCt>cAt	p.P797H	SAMD9L_ENST00000437805.1_Missense_Mutation_p.P797H|SAMD9L_ENST00000411955.1_Missense_Mutation_p.P797H	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	797										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			GAGAAGCACAGGAATGTAATC	0.383													T	92762895	G	T	92762895	3	4	364	1	0	0	0	0	1	0	0	0	13918	1000	35	4	2368	4	SAMD9L	7	92762895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	595	92762895	66375768	6168	29670											
SAMD9L	219285	broad.mit.edu	37	chr7	92763849	92763849	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaaatcttctcccacatgTtagttgtcttgtcttcatat	9	18	5	9	0	5	1	1	0	4	1	6	1	5	1	1	0	0	2	1	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92763849T>C	ENST00000318238.4	-	5	2652	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	SAMD9L_ENST00000437805.1_Missense_Mutation_p.N479S|SAMD9L_ENST00000411955.1_Missense_Mutation_p.N479S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	479										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTCCCACATGTTAGTTGTCTT	0.403													C	92763849	T	C	92763849	3	2	364	1	0	0	0	0	1	0	0	0	13918	1725	60	3	3322	3	SAMD9L	7	92763849	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	954	92763849	66374814	6169	29671											
CCDC132	55610	broad.mit.edu	37	chr7	92887538	92887538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcaaatcaaaggaaaCgtcagttgctgattggactt	12	13	9	7	1	3	1	2	1	1	0	3	3	3	3	0	2	3	3	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92887538C>T	ENST00000544910.1	+	8	620	c.400C>T	c.(400-402)Cgt>Tgt	p.R134C	CCDC132_ENST00000305866.5_Missense_Mutation_p.R164C|CCDC132_ENST00000251739.5_Missense_Mutation_p.R164C|CCDC132_ENST00000535481.1_Intron|CCDC132_ENST00000541136.1_5'UTR|CCDC132_ENST00000317751.6_5'UTR	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	164										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TCAAAGGAAACGTCAGTTGCT	0.313													T	92887538	C	T	92887538	3	4	364	1	0	0	0	0	1	0	0	0	2793	536	19	1	516	1	CCDC132	7	92887538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123689	92887538	66251125	6170	29672											
CCDC132	55610	broad.mit.edu	37	chr7	92938235	92938235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actatgtggatgagcagacaGgagatggtcctgtgaaaagg	13	8	15	5	0	0	4	0	2	0	2	1	6	1	5	1	4	1	1	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:92938235G>A	ENST00000544910.1	+	20	1859	c.1639G>A	c.(1639-1641)Gga>Aga	p.G547R	CCDC132_ENST00000305866.5_Missense_Mutation_p.G577R|CCDC132_ENST00000535481.1_Missense_Mutation_p.G297R|CCDC132_ENST00000541136.1_Missense_Mutation_p.G388R|CCDC132_ENST00000317751.6_Missense_Mutation_p.G308R	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	577										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			TGAGCAGACAGGAGATGGTCC	0.378													A	92938235	G	A	92938235	3	1	364	1	0	0	0	0	1	0	0	0	2793	1001	35	2	1845	2	CCDC132	7	92938235	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50697	92938235	66200428	6171	29673											
COL1A2	1278	broad.mit.edu	37	chr7	94038679	94038679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctgctggtcccgccGgtccccgtggtgaagtgggt	2	10	16	13	3	0	1	0	1	0	0	3	1	3	1	5	5	1	1	5	5	1	0	rs72656387		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94038679G>A	ENST00000297268.6	+	17	1309	c.838G>A	c.(838-840)Ggt>Agt	p.G280S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	280					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TGGTCCCGCCGGTCCCCGTGG	0.473										HNSCC(75;0.22)			A	94038679	G	A	94038679	3	1	364	1	0	0	0	0	1	0	0	0	3709	1116	39	1	904	1	COL1A2	7	94038679	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1100444	94038679	65099984	6172	29674											
COL1A2	1278	broad.mit.edu	37	chr7	94039589	94039589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggctccaaaggagagagCggtaacaagggtgagcccgt	11	5	16	9	2	0	2	0	1	0	1	1	4	1	3	2	4	3	3	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94039589C>T	ENST00000297268.6	+	20	1542	c.1071C>T	c.(1069-1071)agC>agT	p.S357S		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	357					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	AAGGAGAGAGCGGTAACAAGG	0.418										HNSCC(75;0.22)			T	94039589	C	T	94039589	2	4	364	1	0	0	0	0	0	0	0	1	3709	767	27	1		1	COL1A2	7	94039589	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	910	94039589	65099074	6173	29675											
COL1A2	1278	broad.mit.edu	37	chr7	94054475	94054475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggccctcctggggcccgtgGtcctcctggtgctgtgggta	1	10	16	14	2	0	0	0	0	0	0	3	0	3	0	5	6	1	2	5	6	1	1	rs121912900		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94054475G>T	ENST00000297268.6	+	42	3191	c.2720G>T	c.(2719-2721)gGt>gTt	p.G907V		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	907					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GGGGCCCGTGGTCCTCCTGGT	0.522										HNSCC(75;0.22)			T	94054475	G	T	94054475	3	4	364	1	0	0	0	0	1	0	0	0	3709	1261	44	4	2886	4	COL1A2	7	94054475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14886	94054475	65084188	6174	29676											
COL1A2	1278	broad.mit.edu	37	chr7	94059628	94059628	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcacgcctgcccttcCttgatattgcacctttggac	7	12	7	15	1	1	1	1	1	0	0	2	2	2	2	5	1	3	1	5	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94059628C>A	ENST00000297268.6	+	52	4495	c.4024C>A	c.(4024-4026)Ctt>Att	p.L1342I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1342	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCTGCCCTTCCTTGATATTGC	0.363										HNSCC(75;0.22)			A	94059628	C	A	94059628	3	1	364	1	0	0	0	0	1	0	0	0	3709	681	24	4	4230	4	COL1A2	7	94059628	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5153	94059628	65079035	6175	29677											
CASD1	64921	broad.mit.edu	37	chr7	94157499	94157499	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctaacatttctcttttaGgattttctgtggcatcctga	7	19	6	9	0	3	1	0	1	3	0	5	2	4	2	1	2	1	1	1	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94157499G>T	ENST00000297273.4	+	5	683		c.e5-1			NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1							integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			TTCTCTTTTAGGATTTTCTGT	0.289													T	94157499	G	T	94157499	5	4	364	1	0	0	0	0	0	0	1	0	2690	1014	35	4	414	4	CASD1	7	94157499	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97871	94157499	64981164	6176	29678											
CASD1	64921	broad.mit.edu	37	chr7	94175012	94175012	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataatccaaaaaaaagcaaaCggtaaatatactttcttact	20	11	3	7	1	1	0	0	0	1	0	2	0	2	0	1	1	4	2	1	1	11	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94175012C>T	ENST00000297273.4	+	12	1919	c.1632C>T	c.(1630-1632)aaC>aaT	p.N544N		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	544						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AAAAAGCAAACGGTAAATATA	0.284													T	94175012	C	T	94175012	5	4	364	1	0	0	0	0	0	0	1	0	2690	550	19	1	1678	1	CASD1	7	94175012	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17513	94175012	64963651	6177	29679											
CASD1	64921	broad.mit.edu	37	chr7	94176487	94176487	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttggcatattctcaGgtttgtacaatcttttcagt	7	21	7	6	0	3	0	2	0	2	0	4	0	3	0	0	2	1	4	0	2	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94176487G>T	ENST00000297273.4	+	13	2000	c.1713G>T	c.(1711-1713)caG>caT	p.Q571H		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	571						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CATATTCTCAGGTTTGTACAA	0.279													T	94176487	G	T	94176487	5	4	364	1	0	0	0	0	0	0	1	0	2690	1014	35	4	1763	4	CASD1	7	94176487	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1475	94176487	64962176	6178	29680											
SGCE	8910	broad.mit.edu	37	chr7	94259103	94259103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacaaagaggacacctgCtgatgggtatacattccgat	14	9	10	8	1	0	3	0	2	0	1	1	5	1	4	2	2	3	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94259103C>A	ENST00000415788.2	-	3	355	c.268G>T	c.(268-270)Gca>Tca	p.A90S	SGCE_ENST00000447873.1_Missense_Mutation_p.A54S|SGCE_ENST00000445866.2_Missense_Mutation_p.A54S|SGCE_ENST00000428696.2_Missense_Mutation_p.A54S|SGCE_ENST00000265735.7_Missense_Mutation_p.A54S|SGCE_ENST00000437425.2_Intron			O43556	SGCE_HUMAN	sarcoglycan, epsilon	54					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			AGGACACCTGCTGATGGGTAT	0.378													A	94259103	C	A	94259103	3	1	364	1	0	0	0	0	1	0	0	0	14295	797	28	4	1345	4	SGCE	7	94259103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82616	94259103	64879560	6179	29681											
PEG10	23089	broad.mit.edu	37	chr7	94293536	94293536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctctcccacctcgaggTcgccaagtcgctgtctgctc	5	9	11	16	3	2	0	0	0	2	0	7	2	2	1	3	2	2	3	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94293536T>C	ENST00000482108.1	+	2	1147	c.668T>C	c.(667-669)gTc>gCc	p.V223A	PEG10_ENST00000488574.1_Missense_Mutation_p.V223A	NM_001040152.1|NM_001172438.1|NM_001184962.1	NP_001035242.1|NP_001165909.1|NP_001171891.1	Q86TG7	PEG10_HUMAN	paternally expressed 10	223	Necessary for interaction with ALK1.				apoptosis|cell differentiation|negative regulation of transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(9)|prostate(3)|skin(1)	21	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CACCTCGAGGTCGCCAAGTCG	0.622													C	94293536	T	C	94293536	3	2	364	1	0	0	0	0	1	0	0	0	11795	1667	58	3	902	3	PEG10	7	94293536	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34433	94293536	64845127	6180	29682											
PPP1R9A	55607	broad.mit.edu	37	chr7	94915538	94915538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttaccttcaatgatgaCttcagtcccagcagtaccag	12	12	6	11	0	2	2	2	2	0	0	3	2	3	2	3	0	3	2	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915538C>A	ENST00000289495.5	+	16	3612	c.3396C>A	c.(3394-3396)gaC>gaA	p.D1132E	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.D1210E|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.D926E|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.D926E|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.D1150E|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.D1150E	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	926						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAATGATGACTTCAGTCCCA	0.453										HNSCC(28;0.073)			A	94915538	C	A	94915538	3	1	364	1	0	0	0	0	1	0	0	0	12460	564	20	4	3696	4	PPP1R9A	7	94915538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	622002	94915538	64223125	6181	29683											
PPP1R9A	55607	broad.mit.edu	37	chr7	94915620	94915620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggctctctcagtccttaGcactgtcatcagatgaggta	9	11	10	11	0	4	2	3	1	1	1	6	2	5	2	1	2	1	3	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94915620G>T	ENST00000289495.5	+	16	3694	c.3478G>T	c.(3478-3480)Gca>Tca	p.A1160S	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.A1238S|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.A954S|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.A954S|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.A1178S|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.A1178S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	954						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			TCAGTCCTTAGCACTGTCATC	0.458										HNSCC(28;0.073)			T	94915620	G	T	94915620	3	4	364	1	0	0	0	0	1	0	0	0	12460	971	34	4	3778	4	PPP1R9A	7	94915620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82	94915620	64223043	6182	29684											
PPP1R9A	55607	broad.mit.edu	37	chr7	94917922	94917922	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaatggagtgtgcagcaGgtttctcactggttaatgag	10	11	14	6	0	1	1	1	1	1	0	2	3	1	3	0	4	2	4	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94917922G>T	ENST00000289495.5	+	17	3786	c.3570G>T	c.(3568-3570)caG>caT	p.Q1190H	PPP1R9A_ENST00000433360.1_Missense_Mutation_p.Q1268H|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.Q992H|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.Q992H|PPP1R9A_ENST00000424654.1_Intron|PPP1R9A_ENST00000456331.2_Intron	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	992						cell junction|synapse|synaptosome	actin binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTGCAGCAGGTTTCTCACT	0.453										HNSCC(28;0.073)			T	94917922	G	T	94917922	3	4	364	1	0	0	0	0	1	0	0	0	12460	991	35	4	3902	4	PPP1R9A	7	94917922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2302	94917922	64220741	6183	29685											
PON3	5446	broad.mit.edu	37	chr7	94991693	94991693	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgatcctggagggtccTcagggttatagttcagtagc	7	13	12	9	0	3	1	2	1	1	0	5	2	5	2	2	3	1	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:94991693T>G	ENST00000265627.5	-	8	897	c.887A>C	c.(886-888)gAg>gCg	p.E296A	PON3_ENST00000427422.1_Intron|PON3_ENST00000451904.1_3'UTR|PON1_ENST00000542556.1_Intron	NM_000940.2	NP_000931.1			paraoxonase 3											breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	24	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0151)			TGGAGGGTCCTCAGGGTTATA	0.468													G	94991693	T	G	94991693	3	3	364	1	0	0	0	0	1	0	0	0	12327	1551	54	5	185	5	PON3	7	94991693	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73771	94991693	64146970	6184	29686											
PDK4	5166	broad.mit.edu	37	chr7	95217073	95217073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttttcccaagacaacaAtaacctctattggtgtaagg	12	13	6	10	0	2	1	0	0	2	1	3	1	3	1	2	2	2	1	2	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95217073A>G	ENST00000005178.5	-	8	1033	c.836T>C	c.(835-837)aTt>aCt	p.I279T		NM_002612.3	NP_002603.1	Q16654	PDK4_HUMAN	pyruvate dehydrogenase kinase, isozyme 4	279	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(62;1.06e-10)|all_epithelial(64;1.04e-09)|Lung NSC(181;0.128)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0151)			CAAGACAACAATAACCTCTAT	0.383													G	95217073	A	G	95217073	3	3	364	1	0	0	0	0	1	0	0	0	11754	101	4	3	415	3	PDK4	7	95217073	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	225380	95217073	63921590	6185	29687											
DYNC1I1	1780	broad.mit.edu	37	chr7	95665036	95665036	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttggcagtgaggaaggtAcagtctacacggcttgtcgt	8	11	15	7	2	1	1	0	1	1	0	2	2	1	2	0	5	2	4	0	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95665036A>G	ENST00000324972.6	+	13	1580	c.1387A>G	c.(1387-1389)Aca>Gca	p.T463A	DYNC1I1_ENST00000457059.1_Missense_Mutation_p.T446A|DYNC1I1_ENST00000497626.1_3'UTR|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.T426A|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.T426A|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.T443A|DYNC1I1_ENST00000447467.2_Missense_Mutation_p.T446A	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	463					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			TGAGGAAGGTACAGTCTACAC	0.448													G	95665036	A	G	95665036	3	3	364	1	0	0	0	0	1	0	0	0	4881	391	14	3	1433	3	DYNC1I1	7	95665036	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	447963	95665036	63473627	6186	29688											
SLC25A13	10165	broad.mit.edu	37	chr7	95775888	95775888	+	Missense_Mutation	SNP	C	C	T																															cttgtagatcccaaaaaaccCcaggtcccgcacgacagaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775888C>T	ENST00000416240.2	-	14	1625	c.1435G>A	c.(1435-1437)Ggg>Agg	p.G479R	SLC25A13_ENST00000265631.5_Missense_Mutation_p.G478R|SLC25A13_ENST00000542654.1_Missense_Mutation_p.G370R	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	478					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCAAAAAACCCCAGGTCCCGC	0.393													T	95775888	C	T	95775888	3	4	364	1	0	0	0	0	1	0	0	0	14569	623	22	2	615	2	SLC25A13	7	95775888	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110852	95775888	63362775	6187	29689	69	2									
SLC25A13	10165	broad.mit.edu	37	chr7	95775897	95775897	+	Missense_Mutation	SNP	G	G	A																															cccaaaaaaccccaggtcccGcacgacagacagagcactga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95775897G>A	ENST00000416240.2	-	14	1616	c.1426C>T	c.(1426-1428)Cgg>Tgg	p.R476W	SLC25A13_ENST00000265631.5_Missense_Mutation_p.R475W|SLC25A13_ENST00000542654.1_Missense_Mutation_p.R367W	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	475					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	CCCAGGTCCCGCACGACAGAC	0.403													A	95775897	G	A	95775897	3	1	364	1	0	0	0	0	1	0	0	0	14569	1086	38	1	624	1	SLC25A13	7	95775897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	95775897	63362766	6188	29690	69	2									
SLC25A13	10165	broad.mit.edu	37	chr7	95822374	95822374	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagacattcttctacaaaaGgagtcaagacatgggggcgg	13	8	12	8	1	3	2	1	0	2	2	3	3	3	3	0	4	1	0	0	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:95822374G>T	ENST00000416240.2	-	6	780	c.590C>A	c.(589-591)cCt>cAt	p.P197H	SLC25A13_ENST00000265631.5_Missense_Mutation_p.P197H|SLC25A13_ENST00000542654.1_Missense_Mutation_p.P89H	NM_001160210.1|NM_014251.2	NP_001153682.1|NP_055066.1	Q9UJS0	CMC2_HUMAN	solute carrier family 25 (aspartate/glutamate carrier), member 13	197					ATP biosynthetic process|gluconeogenesis|malate-aspartate shuttle|response to calcium ion	integral to plasma membrane|mitochondrial inner membrane	calcium ion binding|L-aspartate transmembrane transporter activity|L-glutamate transmembrane transporter activity			breast(4)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|prostate(1)|skin(4)	42	all_cancers(62;7.75e-08)|all_epithelial(64;1.16e-07)		STAD - Stomach adenocarcinoma(171;0.194)		L-Aspartic Acid(DB00128)	TTCTACAAAAGGAGTCAAGAC	0.418													T	95822374	G	T	95822374	3	4	364	1	0	0	0	0	1	0	0	0	14569	1000	35	4	1492	4	SLC25A13	7	95822374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46477	95822374	63316289	6189	29691											
DLX6	1750	broad.mit.edu	37	chr7	96639119	96639119	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttgcaggtgaagatatgGtttcagaacaaacgctctaa	13	12	9	7	1	3	3	1	1	2	2	3	3	3	3	0	2	3	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96639119G>A	ENST00000518156.2	+	3	1072	c.642G>A	c.(640-642)tgG>tgA	p.W214*	DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000555308.1_Nonsense_Mutation_p.W86*|DLX6_ENST00000007660.5_Nonsense_Mutation_p.W186*|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6_ENST00000493273.2_3'UTR			P56179	DLX6_HUMAN	distal-less homeobox 6	96					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGAAGATATGGTTTCAGAACA	0.478													A	96639119	G	A	96639119	4	1	364	1	0	0	0	0	0	1	0	0	4614	1270	44	2	652	2	DLX6	7	96639119	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	816745	96639119	62499544	6190	29692											
DLX5	1749	broad.mit.edu	37	chr7	96651589	96651589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaccttctctgtaatgcggCcagctgaaagctggaataaa	14	9	9	9	1	1	1	0	1	1	0	2	2	1	2	2	2	4	3	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:96651589C>A	ENST00000222598.4	-	2	921	c.448G>T	c.(448-450)Gcc>Tcc	p.A150S	DLX5_ENST00000486603.2_Missense_Mutation_p.A150S|DLX5_ENST00000493764.1_5'UTR	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	150					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					TGTAATGCGGCCAGCTGAAAG	0.498													A	96651589	C	A	96651589	3	1	364	1	0	0	0	0	1	0	0	0	4613	739	26	4	429	4	DLX5	7	96651589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12470	96651589	62487074	6191	29693											
ASNS	440	broad.mit.edu	37	chr7	97498288	97498288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatttcttcactcgaattgGctgcattccaaacagcgggt	10	13	8	10	2	2	0	1	0	1	0	4	1	3	0	1	2	3	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97498288G>A	ENST00000175506.4	-	4	709	c.181C>T	c.(181-183)Cca>Tca	p.P61S	ASNS_ENST00000422745.1_Missense_Mutation_p.P40S|ASNS_ENST00000437628.1_Intron|ASNS_ENST00000444334.1_Missense_Mutation_p.P40S|ASNS_ENST00000394309.3_Missense_Mutation_p.P61S|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.P61S	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	61	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACTCGAATTGGCTGCATTCCA	0.453													A	97498288	G	A	97498288	3	1	364	1	0	0	0	0	1	0	0	0	1053	1203	42	2	1548	2	ASNS	7	97498288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	846699	97498288	61640375	6192	29694											
LMTK2	22853	broad.mit.edu	37	chr7	97822147	97822147	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaaaacgtaagcacaaaGggtgacgatacagatgtcat	17	6	11	7	2	1	2	1	1	0	1	1	4	1	3	0	2	3	2	0	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822147G>T	ENST00000297293.5	+	11	2663	c.2370G>T	c.(2368-2370)aaG>aaT	p.K790N		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	790					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TAAGCACAAAGGGTGACGATA	0.453													T	97822147	G	T	97822147	3	4	364	1	0	0	0	0	1	0	0	0	8920	991	35	4	2412	4	LMTK2	7	97822147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	323859	97822147	61316516	6193	29695											
LMTK2	22853	broad.mit.edu	37	chr7	97822821	97822821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactggactctttaggatCtcacactccccagaaactag	11	10	7	13	0	2	1	1	0	2	1	4	3	3	3	2	2	2	1	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822821C>A	ENST00000297293.5	+	11	3337	c.3044C>A	c.(3043-3045)tCt>tAt	p.S1015Y		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1015					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					TCTTTAGGATCTCACACTCCC	0.587													A	97822821	C	A	97822821	3	1	364	1	0	0	0	0	1	0	0	0	8920	913	32	4	3086	4	LMTK2	7	97822821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	674	97822821	61315842	6194	29696											
LMTK2	22853	broad.mit.edu	37	chr7	97822889	97822889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctacgaaacagagaacttgGagtctcccgagtggaccttg	11	8	12	10	2	1	1	0	0	1	1	2	6	1	3	2	2	3	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97822889G>A	ENST00000297293.5	+	11	3405	c.3112G>A	c.(3112-3114)Gag>Aag	p.E1038K		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1038					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AGAGAACTTGGAGTCTCCCGA	0.617													A	97822889	G	A	97822889	3	1	364	1	0	0	0	0	1	0	0	0	8920	1175	41	2	3154	2	LMTK2	7	97822889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68	97822889	61315774	6195	29697											
LMTK2	22853	broad.mit.edu	37	chr7	97833470	97833470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagcttttccctcacacaCctgaccgactcggacatcga	9	8	7	17	3	1	1	1	1	0	0	4	4	2	2	4	1	1	1	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97833470C>A	ENST00000297293.5	+	13	4748	c.4455C>A	c.(4453-4455)caC>caA	p.H1485Q		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	1485				Missing (in Ref. 2; BAA83031).	early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					CCCTCACACACCTGACCGACT	0.682													A	97833470	C	A	97833470	3	1	364	1	0	0	0	0	1	0	0	0	8920	506	18	4	4505	4	LMTK2	7	97833470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10581	97833470	61305193	6196	29698											
TECPR1	25851	broad.mit.edu	37	chr7	97861270	97861270	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccggtcttcacccacaccGactgcgcaggccggggcagt	6	5	12	18	4	2	0	1	0	1	0	2	1	2	0	5	4	1	2	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97861270G>A	ENST00000447648.2	-	13	2119	c.1820C>T	c.(1819-1821)tCg>tTg	p.S607L	TECPR1_ENST00000542604.1_Splice_Site_p.S537L|TECPR1_ENST00000379795.3_Splice_Site_p.S608L			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	607						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CACCCACACCGACTGCGCAGG	0.721													A	97861270	G	A	97861270	5	1	364	1	0	0	0	0	0	0	1	0	15843	1072	37	1	1733	1	TECPR1	7	97861270	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27800	97861270	61277393	6197	29699											
TECPR1	25851	broad.mit.edu	37	chr7	97862928	97862928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactttcttggcctcctTgaggtcaatattggtccagg	6	13	12	10	0	2	1	1	1	1	0	4	1	4	1	3	5	0	1	3	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97862928T>C	ENST00000447648.2	-	11	1776	c.1477A>G	c.(1477-1479)Aag>Gag	p.K493E	TECPR1_ENST00000542604.1_Missense_Mutation_p.K423E|TECPR1_ENST00000379795.3_Missense_Mutation_p.K493E			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	493						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TTGGCCTCCTTGAGGTCAATA	0.692													C	97862928	T	C	97862928	3	2	364	1	0	0	0	0	1	0	0	0	15843	1821	63	3	2084	3	TECPR1	7	97862928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1658	97862928	61275735	6198	29700											
TECPR1	25851	broad.mit.edu	37	chr7	97874290	97874290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagtgccaccctgtccagCggccggtgctggagcccact	5	6	14	16	2	0	0	0	0	0	0	1	1	1	1	5	4	4	2	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97874290C>T	ENST00000447648.2	-	4	614	c.315G>A	c.(313-315)ccG>ccA	p.P105P	TECPR1_ENST00000542604.1_Silent_p.P26P|TECPR1_ENST00000379795.3_Silent_p.P105P			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	105						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCCTGTCCAGCGGCCGGTGCT	0.637													T	97874290	C	T	97874290	2	4	364	1	0	0	0	0	0	0	0	1	15843	755	27	1		1	TECPR1	7	97874290	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11362	97874290	61264373	6199	29701											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97944811	97944811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtttgcaaagccacaGtgcttatcaaccagaaagca	14	9	9	9	0	1	1	1	0	0	1	1	1	1	1	2	1	5	4	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97944811G>A	ENST00000005260.8	-	7	815	c.600C>T	c.(598-600)caC>caT	p.H200H	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	200	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CAAAGCCACAGTGCTTATCAA	0.408													A	97944811	G	A	97944811	2	1	364	1	0	0	0	0	0	0	0	1	1307	1020	36	2		2	BAIAP2L1	7	97944811	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70521	97944811	61193852	6200	29702											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97949586	97949586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgagtttcttgtgggtaCttgaaatctctatgaggaca	9	15	11	6	1	2	3	0	3	2	0	3	4	2	4	0	2	1	3	0	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:97949586C>T	ENST00000005260.8	-	4	454	c.239G>A	c.(238-240)aGt>aAt	p.S80N	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	80	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTTGTGGGTACTTGAAATCTC	0.363													T	97949586	C	T	97949586	3	4	364	1	0	0	0	0	1	0	0	0	1307	565	20	2	1340	2	BAIAP2L1	7	97949586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4775	97949586	61189077	6201	29703											
NPTX2	4885	broad.mit.edu	37	chr7	98256624	98256624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccctggcaccccatcaagCccgggggcgtgctgatcctt	5	7	11	18	2	1	1	1	1	0	0	2	1	2	1	6	3	2	2	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98256624C>T	ENST00000265634.3	+	4	1201	c.1036C>T	c.(1036-1038)Ccc>Tcc	p.P346S		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	346	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CCCCATCAAGCCCGGGGGCGT	0.677													T	98256624	C	T	98256624	3	4	364	1	0	0	0	0	1	0	0	0	10679	739	26	2	1050	2	NPTX2	7	98256624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	307038	98256624	60882039	6202	29704											
TRRAP	8295	broad.mit.edu	37	chr7	98506447	98506447	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgtccagctcttcgccaaGaacatcgacgatgagtccct	9	8	9	15	4	1	2	0	1	1	1	5	4	3	2	4	0	2	1	4	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98506447G>A	ENST00000359863.4	+	14	1421	c.1212G>A	c.(1210-1212)aaG>aaA	p.K404K	TRRAP_ENST00000446306.3_Silent_p.K404K|TRRAP_ENST00000355540.3_Silent_p.K404K	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	404					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCTTCGCCAAGAACATCGACG	0.642													A	98506447	G	A	98506447	2	1	364	1	0	0	0	0	0	0	0	1	16702	933	33	2		2	TRRAP	7	98506447	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249823	98506447	60632216	6203	29705											
TRRAP	8295	broad.mit.edu	37	chr7	98515137	98515137	+	Silent	SNP	G	G	A																															gtccctgtgcggctgagctcGcttttgccgtacctgcccat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515137G>A	ENST00000359863.4	+	20	2666	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	TRRAP_ENST00000446306.3_Silent_p.S818S|TRRAP_ENST00000355540.3_Silent_p.S819S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	819					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGCTGAGCTCGCTTTTGCCGT	0.572													A	98515137	G	A	98515137	2	1	364	1	0	0	0	0	0	0	0	1	16702	1074	38	1		1	TRRAP	7	98515137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8690	98515137	60623526	6204	29706	70	2									
TRRAP	8295	broad.mit.edu	37	chr7	98515147	98515147	+	Missense_Mutation	SNP	T	T	C																															ggctgagctcgcttttgccgTacctgcccatgcttatggat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98515147T>C	ENST00000359863.4	+	20	2676	c.2467T>C	c.(2467-2469)Tac>Cac	p.Y823H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Y822H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Y823H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	823					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GCTTTTGCCGTACCTGCCCAT	0.567													C	98515147	T	C	98515147	3	2	364	1	0	0	0	0	1	0	0	0	16702	1638	57	3	2541	3	TRRAP	7	98515147	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10	98515147	60623516	6205	29707	70	2									
TRRAP	8295	broad.mit.edu	37	chr7	98524833	98524833	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttatcatctcacatcgcTacaaagcccaggacactcca	13	9	5	14	1	2	0	2	0	1	0	5	1	3	1	2	1	2	2	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98524833T>C	ENST00000359863.4	+	23	3228	c.3019T>C	c.(3019-3021)Tac>Cac	p.Y1007H	TRRAP_ENST00000446306.3_Missense_Mutation_p.Y1006H|TRRAP_ENST00000355540.3_Missense_Mutation_p.Y1007H	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1007					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCACATCGCTACAAAGCCCA	0.542													C	98524833	T	C	98524833	3	2	364	1	0	0	0	0	1	0	0	0	16702	1522	53	3	3105	3	TRRAP	7	98524833	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9686	98524833	60613830	6206	29708											
TRRAP	8295	broad.mit.edu	37	chr7	98527692	98527692	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagaaaatggctcgaaaGgaatggatcctttggttctc	12	11	12	6	1	1	2	0	1	1	1	4	5	2	4	1	4	0	2	1	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98527692G>T	ENST00000359863.4	+	24	3465	c.3256G>T	c.(3256-3258)Gga>Tga	p.G1086*	TRRAP_ENST00000446306.3_Nonsense_Mutation_p.G1085*|TRRAP_ENST00000355540.3_Nonsense_Mutation_p.G1086*	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1086					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TGGCTCGAAAGGAATGGATCC	0.478													T	98527692	G	T	98527692	4	4	364	1	0	0	0	0	0	1	0	0	16702	1001	35	4	3346	4	TRRAP	7	98527692	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2859	98527692	60610971	6207	29709											
TRRAP	8295	broad.mit.edu	37	chr7	98555694	98555694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacactgtggtgaacttcCttatccgcgtggcctgtcag	7	11	11	12	2	1	2	1	1	0	1	3	2	3	2	3	2	1	0	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98555694C>A	ENST00000359863.4	+	43	6510	c.6301C>A	c.(6301-6303)Ctt>Att	p.L2101I	TRRAP_ENST00000446306.3_Missense_Mutation_p.L2082I|TRRAP_ENST00000355540.3_Missense_Mutation_p.L2083I	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2101	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GGTGAACTTCCTTATCCGCGT	0.572													A	98555694	C	A	98555694	3	1	364	1	0	0	0	0	1	0	0	0	16702	681	24	4	6409	4	TRRAP	7	98555694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28002	98555694	60582969	6208	29710											
TRRAP	8295	broad.mit.edu	37	chr7	98562283	98562283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcaagtctgcctgcagCaacaaccccagctacataga	13	7	6	15	0	2	1	1	0	1	1	3	1	3	1	4	0	7	3	4	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98562283C>T	ENST00000359863.4	+	47	7049	c.6840C>T	c.(6838-6840)agC>agT	p.S2280S	TRRAP_ENST00000446306.3_Silent_p.S2261S|TRRAP_ENST00000355540.3_Silent_p.S2262S	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2280	Interaction with TP53.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTGCCTGCAGCAACAACCCCA	0.478													T	98562283	C	T	98562283	2	4	364	1	0	0	0	0	0	0	0	1	16702	709	25	2		2	TRRAP	7	98562283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6589	98562283	60576380	6209	29711											
TRRAP	8295	broad.mit.edu	37	chr7	98564774	98564774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtttttagatcttgttaaCtatgtctacaggtaattaca	12	17	6	6	0	2	1	0	0	2	1	2	1	2	1	0	1	3	3	0	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98564774C>T	ENST00000359863.4	+	49	7475	c.7266C>T	c.(7264-7266)aaC>aaT	p.N2422N	TRRAP_ENST00000446306.3_Silent_p.N2404N|TRRAP_ENST00000355540.3_Silent_p.N2404N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2422					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ATCTTGTTAACTATGTCTACA	0.393													T	98564774	C	T	98564774	2	4	364	1	0	0	0	0	0	0	0	1	16702	564	20	2		2	TRRAP	7	98564774	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2491	98564774	60573889	6210	29712											
TRRAP	8295	broad.mit.edu	37	chr7	98606006	98606006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctccccagtgccccGggttgtggcagtttccccac	3	11	9	18	1	1	0	0	0	1	0	5	0	4	0	7	2	1	3	7	2	0	2	rs141778269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98606006G>T	ENST00000359863.4	+	69	10927	c.10718G>T	c.(10717-10719)cGg>cTg	p.R3573L	TRRAP_ENST00000446306.3_Missense_Mutation_p.R3562L|TRRAP_ENST00000355540.3_Missense_Mutation_p.R3544L	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3573	PI3K/PI4K.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGTGCCCCGGGTTGTGGCA	0.627													T	98606006	G	T	98606006	3	4	364	1	0	0	0	0	1	0	0	0	16702	1116	39	4	10897	4	TRRAP	7	98606006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41232	98606006	60532657	6211	29713											
SMURF1	57154	broad.mit.edu	37	chr7	98645338	98645338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctctggacacttcgatgCggcaatgaccagcttggggc	7	10	12	12	2	1	1	0	1	1	0	3	3	1	2	1	4	2	2	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:98645338C>T	ENST00000361125.1	-	11	1518	c.1199G>A	c.(1198-1200)cGc>cAc	p.R400H	AC004893.11_ENST00000482799.2_RNA|AC004893.11_ENST00000468960.2_RNA|SMURF1_ENST00000361368.2_Missense_Mutation_p.R374H	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	400					BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			CACTTCGATGCGGCAATGACC	0.498													T	98645338	C	T	98645338	3	4	364	1	0	0	0	0	1	0	0	0	14913	768	27	1	1110	1	SMURF1	7	98645338	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39332	98645338	60493325	6212	29714											
BUD31	8896	broad.mit.edu	37	chr7	99013877	99013877	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaagcggaaagccatcAgcagaggtaattagtcagtc	14	9	10	8	1	2	1	2	0	0	1	3	2	2	2	1	2	4	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99013877A>T	ENST00000403633.2	+	4	740	c.211A>T	c.(211-213)Agc>Tgc	p.S71C	BUD31_ENST00000222969.5_Missense_Mutation_p.S71C|BUD31_ENST00000431419.1_Missense_Mutation_p.S42C|BUD31_ENST00000456893.1_Intron			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	71					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAAAGCCATCAGCAGAGGTAA	0.473													T	99013877	A	T	99013877	3	4	364	1	0	0	0	0	1	0	0	0	1584	188	7	5	217	5	BUD31	7	99013877	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	368539	99013877	60124786	6213	29715											
PTCD1	26024	broad.mit.edu	37	chr7	99022750	99022750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagccctccaggccccCtatcaaggccagccggtcag	9	4	11	17	1	2	0	2	0	0	0	3	1	3	1	6	4	2	0	6	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99022750C>A	ENST00000292478.4	-	6	1655	c.1405G>T	c.(1405-1407)Ggg>Tgg	p.G469W	PTCD1_ENST00000555673.1_Missense_Mutation_p.G518W|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.G518W	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TCCAGGCCCCCTATCAAGGCC	0.657													A	99022750	C	A	99022750	3	1	364	1	0	0	0	0	1	0	0	0	12812	681	24	4	709	4	PTCD1	7	99022750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8873	99022750	60115913	6214	29716											
PTCD1	26024	broad.mit.edu	37	chr7	99026725	99026725	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtggggtgggagggacataCctggagggcgtaccggaagc	8	5	21	7	2	0	0	0	0	0	0	0	4	0	4	2	8	3	1	2	8	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99026725C>A	ENST00000292478.4	-	5	1166		c.e5+1		PTCD1_ENST00000555673.1_Splice_Site|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Splice_Site	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGACATACCTGGAGGGCG	0.572													A	99026725	C	A	99026725	5	1	364	1	0	0	0	0	0	0	1	0	12812	521	18	4	1202	4	PTCD1	7	99026725	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3975	99026725	60111938	6215	29717											
PTCD1	26024	broad.mit.edu	37	chr7	99032629	99032629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcgtcttcttcCtgcgtggccgtggagttgga	2	14	11	14	3	2	0	0	0	2	0	7	2	6	2	5	3	1	1	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99032629C>A	ENST00000292478.4	-	2	487	c.237G>T	c.(235-237)caG>caT	p.Q79H	PTCD1_ENST00000555673.1_Missense_Mutation_p.Q128H|PTCD1_ENST00000485746.1_5'UTR|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.Q128H	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CGTCTTCTTCCTGCGTGGCCG	0.607													A	99032629	C	A	99032629	3	1	364	1	0	0	0	0	1	0	0	0	12812	680	24	4	1893	4	PTCD1	7	99032629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5904	99032629	60106034	6216	29718											
CPSF4	10898	broad.mit.edu	37	chr7	99042455	99042455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctttttgaaagctgcctgCggcaaaggtaagaaactccg	11	11	10	9	2	1	2	0	1	1	1	2	2	2	2	2	2	4	3	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99042455C>T	ENST00000436336.2	+	2	308	c.147C>T	c.(145-147)tgC>tgT	p.C49C	CPSF4_ENST00000441580.1_5'UTR|CPSF4_ENST00000451876.1_Silent_p.C49C|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Silent_p.C49C|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron|CPSF4_ENST00000471455.1_3'UTR	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	49					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAGCTGCCTGCGGCAAAGGTA	0.547													T	99042455	C	T	99042455	2	4	364	1	0	0	0	0	0	0	0	1	3859	776	27	1		1	CPSF4	7	99042455	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9826	99042455	60096208	6217	29719											
CPSF4	10898	broad.mit.edu	37	chr7	99051747	99051747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccggccactggagcaggtCacctgttacaaggtgagtcc	8	7	12	14	1	1	1	1	1	0	0	2	2	2	2	5	4	2	2	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99051747C>T	ENST00000436336.2	+	7	815	c.654C>T	c.(652-654)gtC>gtT	p.V218V	CPSF4_ENST00000441580.1_Silent_p.V165V|ATP5J2_ENST00000466753.1_Intron|CPSF4_ENST00000451876.1_Silent_p.V185V|PTCD1_ENST00000555673.1_Intron|CPSF4_ENST00000292476.5_Silent_p.V243V|ATP5J2-PTCD1_ENST00000437572.1_Intron|ATP5J2-PTCD1_ENST00000413834.1_Intron	NM_001081559.1|NM_006693.2	NP_001075028.1|NP_006684.1	O95639	CPSF4_HUMAN	cleavage and polyadenylation specific factor 4, 30kDa	243					modification by virus of host mRNA processing|mRNA processing|viral infectious cycle	mRNA cleavage and polyadenylation specificity factor complex	RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(5)	14	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TGGAGCAGGTCACCTGTTACA	0.602													T	99051747	C	T	99051747	2	4	364	1	0	0	0	0	0	0	0	1	3859	813	29	2		2	CPSF4	7	99051747	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9292	99051747	60086916	6218	29720											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99123670	99123670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatcacagacatcagccCtaagcaaagcacacatggcg	15	5	8	13	1	2	1	2	0	0	1	2	1	2	1	1	1	4	3	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99123670C>A	ENST00000394170.2	+	6	1258	c.1007C>A	c.(1006-1008)cCt>cAt	p.P336H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.P336H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.P336H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	336					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					GACATCAGCCCTAAGCAAAGC	0.507													A	99123670	C	A	99123670	3	1	364	1	0	0	0	0	1	0	0	0	17791	681	24	4	1025	4	ZKSCAN5	7	99123670	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71923	99123670	60014993	6219	29721											
ZKSCAN5	23660	broad.mit.edu	37	chr7	99129118	99129118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaagctacaaccaacGcgtgcacctaactcagcatc	14	6	8	13	2	1	0	1	0	0	0	2	1	1	1	2	1	7	3	2	1	6	2	rs141273536		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99129118G>A	ENST00000394170.2	+	7	2017	c.1766G>A	c.(1765-1767)cGc>cAc	p.R589H	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R589H|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R589H	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	589					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R589H(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					TACAACCAACGCGTGCACCTA	0.488													A	99129118	G	A	99129118	3	1	364	1	0	0	0	0	1	0	0	0	17791	1087	38	1	1788	1	ZKSCAN5	7	99129118	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5448	99129118	60009545	6220	29722											
ZSCAN21	7589	broad.mit.edu	37	chr7	99654957	99654957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgggtgcaggagcattgcCcggagagcgctgaagaggct	8	6	17	10	2	0	3	0	1	0	2	0	5	0	4	2	4	4	4	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99654957C>T	ENST00000292450.4	+	2	492	c.328C>T	c.(328-330)Ccg>Tcg	p.P110S	ZSCAN21_ENST00000477297.1_3'UTR|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.P110S|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.P110S	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	110	SCAN box.				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GGAGCATTGCCCGGAGAGCGC	0.592													T	99654957	C	T	99654957	3	4	364	1	0	0	0	0	1	0	0	0	18331	623	22	2	330	2	ZSCAN21	7	99654957	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	525839	99654957	59483706	6221	29723											
ZNF3	7551	broad.mit.edu	37	chr7	99669446	99669446	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcttttccccagtgtggaTtctctgatgttgaataaggt	7	15	12	7	0	1	2	0	2	1	0	3	3	2	3	2	3	0	2	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669446T>G	ENST00000303915.6	-	5	1628	c.661A>C	c.(661-663)Atc>Ctc	p.I221L	ZNF3_ENST00000299667.4_Missense_Mutation_p.I221L|ZNF3_ENST00000424697.1_Missense_Mutation_p.I221L|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	221					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.I221V(1)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CCAGTGTGGATTCTCTGATGT	0.463													G	99669446	T	G	99669446	3	3	364	1	0	0	0	0	1	0	0	0	17930	1493	52	5	812	5	ZNF3	7	99669446	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14489	99669446	59469217	6222	29724											
ZNF3	7551	broad.mit.edu	37	chr7	99669634	99669634	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcttctcctcaactgtcActtgaccaaaatctggcatt	10	14	5	12	0	4	1	2	1	2	0	5	1	4	1	2	1	2	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99669634A>G	ENST00000303915.6	-	5	1440	c.473T>C	c.(472-474)gTg>gCg	p.V158A	ZNF3_ENST00000299667.4_Missense_Mutation_p.V158A|ZNF3_ENST00000424697.1_Missense_Mutation_p.V158A|ZNF3_ENST00000413658.2_Intron			P17036	ZNF3_HUMAN	zinc finger protein 3	158					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			CTCAACTGTCACTTGACCAAA	0.453													G	99669634	A	G	99669634	3	3	364	1	0	0	0	0	1	0	0	0	17930	159	6	3	1000	3	ZNF3	7	99669634	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188	99669634	59469029	6223	29725											
ZNF3	7551	broad.mit.edu	37	chr7	99673193	99673193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctttaggagcgcagccGccaacatctcatcccccagg	8	7	10	16	2	1	0	1	0	1	0	3	1	2	1	5	3	3	1	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99673193G>A	ENST00000303915.6	-	3	1083	c.116C>T	c.(115-117)gCg>gTg	p.A39V	ZNF3_ENST00000299667.4_Missense_Mutation_p.A39V|ZNF3_ENST00000424697.1_Missense_Mutation_p.A39V|ZNF3_ENST00000413658.2_Missense_Mutation_p.A39V			P17036	ZNF3_HUMAN	zinc finger protein 3	39					cell differentiation|leukocyte activation|multicellular organismal development	nucleus	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A39G(2)		NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	25	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)	Ovarian(593;2.06e-05)|Myeloproliferative disorder(862;0.0122)|Breast(660;0.029)	STAD - Stomach adenocarcinoma(171;0.129)			GAGCGCAGCCGCCAACATCTC	0.502													A	99673193	G	A	99673193	3	1	364	1	0	0	0	0	1	0	0	0	17930	1087	38	1	1365	1	ZNF3	7	99673193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3559	99673193	59465470	6224	29726											
COPS6	10980	broad.mit.edu	37	chr7	99688570	99688570	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgatataatcaatggaGaggtaataccctacccttca	14	12	6	9	0	3	2	3	1	0	1	3	3	3	2	2	2	2	1	2	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99688570G>T	ENST00000303904.3	+	6	569	c.532G>T	c.(532-534)Gag>Tag	p.E178*	COPS6_ENST00000418625.1_Nonsense_Mutation_p.E177*	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6	178					cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AATCAATGGAGAGGTAATACC	0.478													T	99688570	G	T	99688570	4	4	364	1	0	0	0	0	0	1	0	0	3768	943	33	4	554	4	COPS6	7	99688570	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15377	99688570	59450093	6225	29727											
MCM7	4176	broad.mit.edu	37	chr7	99690594	99690594	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccgggaagcattgacctgCcagacattgagctcctcata	10	9	10	12	1	1	3	1	2	0	1	3	4	3	4	4	1	3	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99690594C>T	ENST00000303887.5	-	15	2766	c.2121G>A	c.(2119-2121)tgG>tgA	p.W707*	MCM7_ENST00000354230.3_Nonsense_Mutation_p.W531*|MCM7_ENST00000343023.6_Nonsense_Mutation_p.W377*	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	707	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CATTGACCTGCCAGACATTGA	0.587													T	99690594	C	T	99690594	4	4	364	1	0	0	0	0	0	1	0	0	9467	740	26	2	42	2	MCM7	7	99690594	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2024	99690594	59448069	6226	29728											
MCM7	4176	broad.mit.edu	37	chr7	99695277	99695277	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagactggtccacacccccGactagcaggagcagcagtgc	10	4	13	14	1	0	1	0	0	0	1	1	4	1	2	3	3	4	3	3	3	1	1	rs146058965		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695277G>A	ENST00000303887.5	-	9	1722	c.1077C>T	c.(1075-1077)gtC>gtT	p.V359V	MCM7_ENST00000354230.3_Silent_p.V183V|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	359	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding	p.V359V(1)|p.V183V(1)		endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CCACACCCCCGACTAGCAGGA	0.502													A	99695277	G	A	99695277	2	1	364	1	0	0	0	0	0	0	0	1	9467	1045	37	1		1	MCM7	7	99695277	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4683	99695277	59443386	6227	29729											
MCM7	4176	broad.mit.edu	37	chr7	99695537	99695537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttcatcttcacaatcCgatgggcttccaggtaggtt	7	15	9	10	1	4	0	2	0	2	0	6	1	6	0	2	3	0	4	2	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99695537C>A	ENST00000303887.5	-	8	1550	c.905G>T	c.(904-906)cGg>cTg	p.R302L	MCM7_ENST00000354230.3_Missense_Mutation_p.R126L|MCM7_ENST00000343023.6_Missense_Mutation_p.R302L	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	302					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	CTTCACAATCCGATGGGCTTC	0.522													A	99695537	C	A	99695537	3	1	364	1	0	0	0	0	1	0	0	0	9467	652	23	4	1286	4	MCM7	7	99695537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260	99695537	59443126	6228	29730											
TAF6	6878	broad.mit.edu	37	chr7	99710503	99710503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctggcttggctgacttcagGggttctgtggcttcagcctt	3	14	13	11	0	3	1	2	1	1	0	3	1	3	1	2	5	1	4	2	5	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99710503G>A	ENST00000344095.4	-	6	1017	c.492C>T	c.(490-492)ccC>ccT	p.P164P	TAF6_ENST00000437822.2_Silent_p.P201P|TAF6_ENST00000452041.1_Silent_p.P164P|TAF6_ENST00000418432.2_Silent_p.P88P|TAF6_ENST00000472509.1_Silent_p.P221P|TAF6_ENST00000453269.2_Silent_p.P164P	NM_005641.3	NP_005632.1	P49848	TAF6_HUMAN	TAF6 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 80kDa	164					negative regulation of cell cycle|negative regulation of cell proliferation|regulation of sequence-specific DNA binding transcription factor activity|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(2)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTGACTTCAGGGGTTCTGTGG	0.582													A	99710503	G	A	99710503	2	1	364	1	0	0	0	0	0	0	0	1	15627	1219	43	2		2	TAF6	7	99710503	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14966	99710503	59428160	6229	29731											
C7orf43	55262	broad.mit.edu	37	chr7	99754506	99754506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgctcaccccctctcaGctgaaacaggaagttgtgtt	8	10	11	12	0	2	1	2	1	1	0	3	2	2	2	2	2	3	5	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99754506G>T	ENST00000316937.3	-	6	1140	c.955C>A	c.(955-957)Ctg>Atg	p.L319M	C7orf43_ENST00000419841.1_Missense_Mutation_p.L87M|C7orf43_ENST00000457641.1_Missense_Mutation_p.L50M|C7orf43_ENST00000498638.1_5'UTR	NM_018275.3	NP_060745.3	Q8WVR3	CG043_HUMAN	chromosome 7 open reading frame 43	319										breast(1)|endometrium(3)|large_intestine(3)|lung(2)|prostate(1)	10	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCCCTCTCAGCTGAAACAGG	0.602													T	99754506	G	T	99754506	3	4	364	1	0	0	0	0	1	0	0	0	2417	962	34	4	811	4	C7orf43	7	99754506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44003	99754506	59384157	6230	29732											
GAL3ST4	79690	broad.mit.edu	37	chr7	99757975	99757975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctccgcagtcagtccaCtgttgctgacagtgctgagg	6	10	13	12	1	1	2	1	2	0	0	4	2	4	2	3	2	2	4	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99757975C>T	ENST00000360039.4	-	4	1429	c.1037G>A	c.(1036-1038)aGt>aAt	p.S346N	GAL3ST4_ENST00000423751.1_3'UTR|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.S346N|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.S284N|GAL3ST4_ENST00000411994.1_3'UTR	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	346					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGTCAGTCCACTGTTGCTGAC	0.612													T	99757975	C	T	99757975	3	4	364	1	0	0	0	0	1	0	0	0	6254	565	20	2	427	2	GAL3ST4	7	99757975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3469	99757975	59380688	6231	29733											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758203	99758203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggcttgatatctggctgCgatgatcagtaacagtggaa	11	10	13	7	1	2	2	1	2	1	0	2	4	2	3	0	3	2	3	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99758203C>T	ENST00000360039.4	-	4	1201	c.809G>A	c.(808-810)cGc>cAc	p.R270H	GAL3ST4_ENST00000423751.1_Missense_Mutation_p.A169T|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R270H|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.R208H|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.A169T	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	270					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TATCTGGCTGCGATGATCAGT	0.557													T	99758203	C	T	99758203	3	4	364	1	0	0	0	0	1	0	0	0	6254	768	27	1	655	1	GAL3ST4	7	99758203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	99758203	59380460	6232	29734											
STAG3	10734	broad.mit.edu	37	chr7	99794891	99794891	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatatattggttggactCtgcatgataaggtgggattc	12	14	11	4	0	1	1	0	1	1	0	2	3	1	3	0	4	1	2	0	4	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99794891C>A	ENST00000426455.1	+	10	1461	c.1054C>A	c.(1054-1056)Ctg>Atg	p.L352M	STAG3_ENST00000317296.5_Missense_Mutation_p.L352M|STAG3_ENST00000394018.2_Missense_Mutation_p.L294M	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	352	SCD.				chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGTTGGACTCTGCATGATAA	0.453													A	99794891	C	A	99794891	3	1	364	1	0	0	0	0	1	0	0	0	15340	912	32	4	1088	4	STAG3	7	99794891	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36688	99794891	59343772	6233	29735											
STAG3	10734	broad.mit.edu	37	chr7	99800141	99800141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcgccgcctcctagccggGttctgcaagctgttgcttta	4	11	12	14	4	1	0	0	0	1	0	2	0	2	0	4	2	4	5	4	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:99800141G>A	ENST00000426455.1	+	25	3035	c.2628G>A	c.(2626-2628)ggG>ggA	p.G876G	GATS_ENST00000436886.2_3'UTR|STAG3_ENST00000440830.1_3'UTR|STAG3_ENST00000317296.5_Silent_p.G876G|GATS_ENST00000543273.1_RNA|STAG3_ENST00000394018.2_Silent_p.G818G	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	876					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTAGCCGGGTTCTGCAAGC	0.512													A	99800141	G	A	99800141	2	1	364	1	0	0	0	0	0	0	0	1	15340	1248	44	2		2	STAG3	7	99800141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5250	99800141	59338522	6234	29736											
ZCWPW1	55063	broad.mit.edu	37	chr7	100006188	100006188	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaccgtattgcttggcccaGatgatggatcctgggatgta	9	12	12	8	1	0	2	0	1	0	1	1	4	1	4	3	3	2	3	3	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100006188G>T	ENST00000398027.2	-	10	1210	c.963C>A	c.(961-963)atC>atA	p.I321I	ZCWPW1_ENST00000324725.6_Silent_p.I201I|ZCWPW1_ENST00000490721.1_Silent_p.I201I|ZCWPW1_ENST00000360951.4_Silent_p.I322I	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	321	PWWP.						zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCTTGGCCCAGATGATGGATC	0.512													T	100006188	G	T	100006188	2	4	364	1	0	0	0	0	0	0	0	1	17698	932	33	4		4	ZCWPW1	7	100006188	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206047	100006188	59132475	6235	29737											
ZCWPW1	55063	broad.mit.edu	37	chr7	100016806	100016806	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcattggtaagacttgAtttttcctgcagagacaagg	10	14	10	7	0	1	3	0	1	1	2	2	4	2	3	1	2	2	3	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100016806A>C	ENST00000398027.2	-	5	536	c.289T>G	c.(289-291)Tca>Gca	p.S97A	ZCWPW1_ENST00000324725.6_5'UTR|ZCWPW1_ENST00000490721.1_5'UTR|ZCWPW1_ENST00000360951.4_Missense_Mutation_p.S97A	NM_017984.4	NP_060454.3	Q9H0M4	ZCPW1_HUMAN	zinc finger, CW type with PWWP domain 1	97							zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTAAGACTTGATTTTTCCTGC	0.453													C	100016806	A	C	100016806	3	2	364	1	0	0	0	0	1	0	0	0	17698	333	12	5	1713	5	ZCWPW1	7	100016806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10618	100016806	59121857	6236	29738											
MEPCE	56257	broad.mit.edu	37	chr7	100028273	100028273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagccgcactctcaacgCggagacccctaagtcatccc	10	6	9	16	3	2	2	2	1	1	1	4	3	3	2	4	1	2	1	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100028273C>T	ENST00000310512.2	+	1	1020	c.632C>T	c.(631-633)gCg>gTg	p.A211V	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	211							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					ACTCTCAACGCGGAGACCCCT	0.552													T	100028273	C	T	100028273	3	4	364	1	0	0	0	0	1	0	0	0	9552	768	27	1	634	1	MEPCE	7	100028273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11467	100028273	59110390	6237	29739											
TSC22D4	81628	broad.mit.edu	37	chr7	100071955	100071955	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggagtgggccaggctgaActtctgagctgctactgctc	7	10	13	11	0	1	2	0	2	1	0	2	3	1	3	1	3	5	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100071955A>C	ENST00000300181.2	-	3	1625	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V	TSC22D4_ENST00000393991.1_Missense_Mutation_p.F52V|TSC22D4_ENST00000496728.1_5'UTR	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	291					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GCCAGGCTGAACTTCTGAGCT	0.597													C	100071955	A	C	100071955	3	2	364	1	0	0	0	0	1	0	0	0	16711	43	2	5	328	5	TSC22D4	7	100071955	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43682	100071955	59066708	6238	29740											
AGFG2	3268	broad.mit.edu	37	chr7	100153290	100153290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctttagcagtggccccaGctcttctgtgtttggaagcc	5	13	11	12	0	2	0	0	0	2	0	2	1	2	1	4	2	4	3	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100153290G>T	ENST00000300176.4	+	6	931	c.809G>T	c.(808-810)aGc>aTc	p.S270I	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	270					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGTGGCCCCAGCTCTTCTGTG	0.522													T	100153290	G	T	100153290	3	4	364	1	0	0	0	0	1	0	0	0	381	971	34	4	831	4	AGFG2	7	100153290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81335	100153290	58985373	6239	29741											
AGFG2	3268	broad.mit.edu	37	chr7	100160220	100160220	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccccgtgttgtagcctCttcgggatggctggccaggt	3	12	13	13	2	2	0	0	0	2	0	4	1	2	1	4	4	1	3	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100160220C>A	ENST00000300176.4	+	8	1124	c.1002C>A	c.(1000-1002)ctC>ctA	p.L334L	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	334					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTTGTAGCCTCTTCGGGATGG	0.642													A	100160220	C	A	100160220	2	1	364	1	0	0	0	0	0	0	0	1	381	900	32	4		4	AGFG2	7	100160220	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6930	100160220	58978443	6240	29742											
AGFG2	3268	broad.mit.edu	37	chr7	100162563	100162563	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttccagactggaccCtcatcaagcccattcgcctc	7	12	5	17	1	3	1	2	0	1	1	6	2	4	2	4	1	1	0	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100162563C>A	ENST00000300176.4	+	12	1517	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	AGFG2_ENST00000474713.1_3'UTR|AGFG2_ENST00000262935.4_3'UTR	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	465					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						AGACTGGACCCTCATCAAGCC	0.517											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	100162563	C	A	100162563	2	1	364	1	0	0	0	0	0	0	0	1	381	668	24	4		4	AGFG2	7	100162563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2343	100162563	58976100	6241	29743											
FBXO24	26261	broad.mit.edu	37	chr7	100190525	100190525	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgactgtgttgaggtCtatctgcagtctagtgggca	6	13	14	8	0	3	2	0	2	3	0	3	2	3	2	1	2	1	3	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100190525C>A	ENST00000241071.6	+	5	1000	c.678C>A	c.(676-678)gtC>gtA	p.V226V	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000465843.1_Silent_p.V212V|FBXO24_ENST00000468962.1_Silent_p.V214V|FBXO24_ENST00000427939.2_Silent_p.V264V|FBXO24_ENST00000360609.2_Silent_p.V212V|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	226						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGTTGAGGTCTATCTGCAGT	0.567													A	100190525	C	A	100190525	2	1	364	1	0	0	0	0	0	0	0	1	5784	900	32	4		4	FBXO24	7	100190525	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27962	100190525	58948138	6242	29744											
FBXO24	26261	broad.mit.edu	37	chr7	100198336	100198336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggggatggcccaggcctgCgaggagtacctcagccagat	8	5	17	11	1	1	1	1	0	0	1	1	4	1	3	4	6	3	1	4	6	1	1	rs139735860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100198336C>T	ENST00000241071.6	+	10	1879	c.1557C>T	c.(1555-1557)tgC>tgT	p.C519C	PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000468962.1_Silent_p.C507C|FBXO24_ENST00000427939.2_Silent_p.C557C|FBXO24_ENST00000360609.2_3'UTR|PCOLCE-AS1_ENST00000544873.1_RNA	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	519						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCAGGCCTGCGAGGAGTACC	0.667													T	100198336	C	T	100198336	2	4	364	1	0	0	0	0	0	0	0	1	5784	776	27	1		1	FBXO24	7	100198336	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7811	100198336	58940327	6243	29745											
PCOLCE	5118	broad.mit.edu	37	chr7	100205657	100205657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcccaaccaggaccaGatcctcaccaacctaagcaa	14	3	6	18	1	1	1	1	0	0	1	2	2	2	2	7	2	3	1	7	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100205657G>T	ENST00000223061.5	+	9	1561	c.1281G>T	c.(1279-1281)caG>caT	p.Q427H		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	427	NTR.				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					ACCAGGACCAGATCCTCACCA	0.617													T	100205657	G	T	100205657	3	4	364	1	0	0	0	0	1	0	0	0	11670	933	33	4	1315	4	PCOLCE	7	100205657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7321	100205657	58933006	6244	29746											
MOSPD3	64598	broad.mit.edu	37	chr7	100211276	100211276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccagatccagcgcctcGcccagggcctcctgctggga	7	5	12	17	2	0	1	0	0	0	1	3	2	2	2	6	2	3	1	6	2	0	0	rs144565703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100211276G>A	ENST00000393950.2	+	3	740	c.458G>A	c.(457-459)cGc>cAc	p.R153H	MOSPD3_ENST00000424091.2_Missense_Mutation_p.R143H|MOSPD3_ENST00000223054.4_Missense_Mutation_p.R153H|MOSPD3_ENST00000379527.2_Missense_Mutation_p.R153H	NM_023948.4	NP_076438.1	O75425	MSPD3_HUMAN	motile sperm domain containing 3	153						integral to membrane	structural molecule activity	p.R153H(1)		breast(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCAGCGCCTCGCCCAGGGCCT	0.627													A	100211276	G	A	100211276	3	1	364	1	0	0	0	0	1	0	0	0	9793	1087	38	1	468	1	MOSPD3	7	100211276	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5619	100211276	58927387	6245	29747											
TFR2	7036	broad.mit.edu	37	chr7	100218520	100218520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagacatccccgctaagcGcattggctgccccttgcagc	7	8	9	17	2	0	1	0	0	0	1	2	1	2	1	5	1	4	4	5	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100218520G>A	ENST00000462107.1	-	19	2653	c.2366C>T	c.(2365-2367)gCg>gTg	p.A789V	TFR2_ENST00000544242.1_Missense_Mutation_p.A330V|TFR2_ENST00000431692.1_3'UTR|TFR2_ENST00000223051.3_Missense_Mutation_p.A789V			Q9UP52	TFR2_HUMAN	transferrin receptor 2	789					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCCGCTAAGCGCATTGGCTGC	0.632													A	100218520	G	A	100218520	3	1	364	1	0	0	0	0	1	0	0	0	15911	1087	38	1	43	1	TFR2	7	100218520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7244	100218520	58920143	6246	29748											
TFR2	7036	broad.mit.edu	37	chr7	100228540	100228540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcggccttcgatgcagccGaagatgttgttgatgggggt	7	10	17	7	3	0	2	0	1	0	1	1	5	0	2	2	3	3	3	2	3	1	3	rs150883560	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100228540G>A	ENST00000431692.1	-	7	1025	c.985C>T	c.(985-987)Cgg>Tgg	p.R329W	TFR2_ENST00000544242.1_5'UTR|TFR2_ENST00000223051.3_Silent_p.F414F|TFR2_ENST00000462107.1_Silent_p.F414F			Q9UP52	TFR2_HUMAN	transferrin receptor 2	0					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CGATGCAGCCGAAGATGTTGT	0.602													A	100228540	G	A	100228540	3	1	364	1	0	0	0	0	1	0	0	0	15911	1049	37	1	1203	1	TFR2	7	100228540	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10020	100228540	58910123	6247	29749											
TFR2	7036	broad.mit.edu	37	chr7	100238479	100238479	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaccctcggaaggcgacGtagcccagtaggaaggctgg	10	4	16	11	3	0	0	0	0	0	0	1	4	0	3	2	6	1	3	2	6	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100238479G>A	ENST00000462107.1	-	4	590	c.303C>T	c.(301-303)taC>taT	p.Y101Y	TFR2_ENST00000431692.1_Silent_p.Y101Y|TFR2_ENST00000223051.3_Silent_p.Y101Y			Q9UP52	TFR2_HUMAN	transferrin receptor 2	101					cellular iron ion homeostasis|iron ion transport|proteolysis	cytoplasm|integral to plasma membrane	peptidase activity|transferrin receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GGAAGGCGACGTAGCCCAGTA	0.597													A	100238479	G	A	100238479	2	1	364	1	0	0	0	0	0	0	0	1	15911	1140	40	1		1	TFR2	7	100238479	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9939	100238479	58900184	6248	29750											
ACTL6B	51412	broad.mit.edu	37	chr7	100244418	100244418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatgctggtggtcaccaCgtggcccacacccaacatgg	8	6	12	15	2	1	0	1	0	0	0	1	1	1	0	4	4	2	1	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100244418C>T	ENST00000160382.5	-	11	1079	c.973G>A	c.(973-975)Gtg>Atg	p.V325M		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	325					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GTGGTCACCACGTGGCCCACA	0.652													T	100244418	C	T	100244418	3	4	364	1	0	0	0	0	1	0	0	0	199	536	19	1	323	1	ACTL6B	7	100244418	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5939	100244418	58894245	6249	29751											
ACTL6B	51412	broad.mit.edu	37	chr7	100253147	100253147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttctctttgtccccCtccagctccagcccgccccc	2	12	4	23	1	2	0	0	0	2	0	6	0	5	0	8	0	2	1	8	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100253147C>A	ENST00000160382.5	-	3	271	c.165G>T	c.(163-165)gaG>gaT	p.E55D		NM_016188.4	NP_057272.1	O94805	ACL6B_HUMAN	actin-like 6B	55	Essential for mediating its function in dendritic development; may contribute to neuronal-specific targeting (By similarity).				chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex|SWI/SNF complex	ATP binding|protein binding|structural constituent of cytoskeleton			endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CTTTGTCCCCCTCCAGCTCCA	0.637													A	100253147	C	A	100253147	3	1	364	1	0	0	0	0	1	0	0	0	199	680	24	4	1163	4	ACTL6B	7	100253147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8729	100253147	58885516	6250	29752											
GNB2	2783	broad.mit.edu	37	chr7	100276322	100276322	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctctcttcttcacaggagtCctcgctggccacgacaaccg	7	10	8	16	3	4	0	1	0	3	0	7	2	5	1	3	2	1	1	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100276322C>T	ENST00000303210.4	+	10	1403	c.921C>T	c.(919-921)gtC>gtT	p.V307V	GNB2_ENST00000424361.1_Silent_p.V263V|GNB2_ENST00000393924.1_Silent_p.V307V|GNB2_ENST00000419828.1_Silent_p.V207V|GNB2_ENST00000427895.1_Silent_p.V207V|GNB2_ENST00000393926.1_Silent_p.V307V|GNB2_ENST00000436220.1_Silent_p.V263V	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	307					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				TCACAGGAGTCCTCGCTGGCC	0.647													T	100276322	C	T	100276322	2	4	364	1	0	0	0	0	0	0	0	1	6573	842	30	2		2	GNB2	7	100276322	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23175	100276322	58862341	6251	29753											
GIGYF1	64599	broad.mit.edu	37	chr7	100280061	100280061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcttctcttcttcctccGtctttttgcgaatgggccga	4	15	9	13	3	3	0	0	0	3	0	6	2	5	0	3	1	2	2	3	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100280061G>A	ENST00000275732.5	-	21	3854	c.2645C>T	c.(2644-2646)aCg>aTg	p.T882M		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	882								p.T882M(1)		central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TTCTTCCTCCGTCTTTTTGCG	0.617													A	100280061	G	A	100280061	3	1	364	1	0	0	0	0	1	0	0	0	6433	1145	40	1	478	1	GIGYF1	7	100280061	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3739	100280061	58858602	6252	29754											
ZAN	7455	broad.mit.edu	37	chr7	100344289	100344289	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatcctccggggccagtctCctggtgcagccctccacatt	6	9	9	17	1	1	0	0	0	1	0	5	0	4	0	6	3	2	1	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100344289C>T	ENST00000542585.1	+	0	1043				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGCCAGTCTCCTGGTGCAGC	0.552													T	100344289	C	T	100344289	1	4	364	0	1	0	0	0	0	0	0	0	17615	855	30	2		2	ZAN	7	100344289	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64228	100344289	58794374	6253	29755											
ZAN	7455	broad.mit.edu	37	chr7	100373104	100373104	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgccaagcatgagaaGgaggaaggtggaactgaggc	14	5	16	6	0	1	2	1	2	0	1	1	6	1	5	1	5	3	1	1	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100373104G>T	ENST00000542585.1	+	0	6079				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGCATGAGAAGGAGGAAGGTG	0.557													T	100373104	G	T	100373104	1	4	364	0	1	0	0	0	0	0	0	0	17615	991	35	4		4	ZAN	7	100373104	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28815	100373104	58765559	6254	29756											
EPHB4	2050	broad.mit.edu	37	chr7	100410454	100410454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaccacgccctccaggCggatgatattggggtgctcg	6	9	15	11	3	0	2	0	2	0	0	2	3	1	3	3	5	1	1	3	5	1	2	rs55692440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100410454C>T	ENST00000358173.3	-	12	2501	c.2033G>A	c.(2032-2034)cGc>cAc	p.R678H	EPHB4_ENST00000360620.3_Missense_Mutation_p.R678H	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	678	Protein kinase.		R -> H (in dbSNP:rs55692440).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCCCTCCAGGCGGATGATATT	0.612													T	100410454	C	T	100410454	3	4	364	1	0	0	0	0	1	0	0	0	5218	768	27	1	954	1	EPHB4	7	100410454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37350	100410454	58728209	6255	29757											
SLC12A9	56996	broad.mit.edu	37	chr7	100452273	100452273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatgctgggctactgcaGgccctggccatgctgctggt	4	10	15	12	0	1	0	1	0	0	0	1	0	1	0	2	5	5	5	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100452273G>T	ENST00000354161.3	+	3	338	c.213G>T	c.(211-213)caG>caT	p.Q71H	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.Q71H|SLC12A9_ENST00000540482.1_Missense_Mutation_p.Q71H|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	71						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGCTACTGCAGGCCCTGGCCA	0.632													T	100452273	G	T	100452273	3	4	364	1	0	0	0	0	1	0	0	0	14484	991	35	4	219	4	SLC12A9	7	100452273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41819	100452273	58686390	6256	29758											
SLC12A9	56996	broad.mit.edu	37	chr7	100453411	100453411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacgtctgtggctgtgccGtctccctcctggggctggtg	2	12	14	13	2	2	0	0	0	2	0	4	0	3	0	3	4	2	2	3	4	1	1	rs145345547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100453411G>A	ENST00000354161.3	+	4	525	c.400G>A	c.(400-402)Gtc>Atc	p.V134I	SLC12A9_ENST00000415287.1_Intron|SLC12A9_ENST00000428758.1_Missense_Mutation_p.V134I|SLC12A9_ENST00000540482.1_Missense_Mutation_p.V134I|SLC12A9_ENST00000275729.3_Intron	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	134						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					TGGCTGTGCCGTCTCCCTCCT	0.622													A	100453411	G	A	100453411	3	1	364	1	0	0	0	0	1	0	0	0	14484	1145	40	1	410	1	SLC12A9	7	100453411	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1138	100453411	58685252	6257	29759											
SLC12A9	56996	broad.mit.edu	37	chr7	100457591	100457591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggaatctatgccacagcGctctcagcgtccatgagctc	9	9	9	14	3	2	1	1	1	2	0	6	2	3	2	2	1	4	2	2	1	2	1	rs140502011	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100457591G>A	ENST00000354161.3	+	8	1187	c.1062G>A	c.(1060-1062)gcG>gcA	p.A354A	SLC12A9_ENST00000475623.1_3'UTR|SLC12A9_ENST00000415287.1_Silent_p.A265A|SLC12A9_ENST00000428758.1_Silent_p.A354A|SLC12A9_ENST00000540482.1_Silent_p.A354A|SLC12A9_ENST00000275729.3_Silent_p.A265A	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	354						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					ATGCCACAGCGCTCTCAGCGT	0.597													A	100457591	G	A	100457591	2	1	364	1	0	0	0	0	0	0	0	1	14484	1074	38	1		1	SLC12A9	7	100457591	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4180	100457591	58681072	6258	29760											
SRRT	51593	broad.mit.edu	37	chr7	100482442	100482442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagaagaaagaagactccGagaaggaagccaaaaaggtg	21	2	13	5	1	0	5	0	0	0	5	1	8	1	6	2	2	1	0	2	2	8	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100482442G>A	ENST00000388793.4	+	8	1244	c.1024G>A	c.(1024-1026)Gag>Aag	p.E342K	SRRT_ENST00000347433.4_Missense_Mutation_p.E342K|SRRT_ENST00000457580.2_Missense_Mutation_p.E342K|SRRT_ENST00000432932.1_Missense_Mutation_p.E342K	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	342	Glu-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AGAAGACTCCGAGAAGGAAGC	0.517													A	100482442	G	A	100482442	3	1	364	1	0	0	0	0	1	0	0	0	15268	1059	37	1	1050	1	SRRT	7	100482442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24851	100482442	58656221	6259	29761											
SRRT	51593	broad.mit.edu	37	chr7	100485034	100485034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggcccagaagatggggcGcaaagacccagagcaggaag	15	1	16	9	1	0	5	0	0	0	5	0	6	0	6	2	4	1	2	2	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100485034G>A	ENST00000388793.4	+	16	2286	c.2066G>A	c.(2065-2067)cGc>cAc	p.R689H	SRRT_ENST00000347433.4_Missense_Mutation_p.R690H|SRRT_ENST00000457580.2_Missense_Mutation_p.R690H|SRRT_ENST00000432932.1_Missense_Mutation_p.R689H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	690					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						AAGATGGGGCGCAAAGACCCA	0.552													A	100485034	G	A	100485034	3	1	364	1	0	0	0	0	1	0	0	0	15268	1087	38	1	2127	1	SRRT	7	100485034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2592	100485034	58653629	6260	29762											
ACHE	43	broad.mit.edu	37	chr7	100490882	100490882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgaaggagaaccggaagacGctttcttgaggcagcacgtg	12	6	14	9	4	1	3	0	1	1	2	1	6	1	4	1	3	2	3	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100490882G>A	ENST00000302913.4	-	2	1110	c.972C>T	c.(970-972)agC>agT	p.S324S	ACHE_ENST00000419336.2_Silent_p.S324S|ACHE_ENST00000428317.1_Silent_p.S324S|ACHE_ENST00000412389.1_Silent_p.S324S|ACHE_ENST00000241069.5_Silent_p.S324S|ACHE_ENST00000411582.1_Silent_p.S324S	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	324					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	ACCGGAAGACGCTTTCTTGAG	0.602													A	100490882	G	A	100490882	2	1	364	1	0	0	0	0	0	0	0	1	141	1078	38	1		1	ACHE	7	100490882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5848	100490882	58647781	6261	29763											
ACHE	43	broad.mit.edu	37	chr7	100491199	100491199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgggtcacccccgaaggctgCcacgttctcctgcacccact	6	7	9	19	3	2	0	1	0	1	0	3	1	2	0	5	2	2	3	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491199C>T	ENST00000302913.4	-	2	793	c.655G>A	c.(655-657)Gca>Aca	p.A219T	ACHE_ENST00000419336.2_Missense_Mutation_p.A219T|ACHE_ENST00000428317.1_Missense_Mutation_p.A219T|ACHE_ENST00000412389.1_Missense_Mutation_p.A219T|ACHE_ENST00000241069.5_Missense_Mutation_p.A219T|ACHE_ENST00000411582.1_Missense_Mutation_p.A219T	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	219					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CCGAAGGCTGCCACGTTCTCC	0.701													T	100491199	C	T	100491199	3	4	364	1	0	0	0	0	1	0	0	0	141	739	26	2	1340	2	ACHE	7	100491199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	317	100491199	58647464	6262	29764											
ACHE	43	broad.mit.edu	37	chr7	100491612	100491612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaggctgcttgggctccGgtggcagaaagcgacggggt	8	6	17	10	3	0	1	0	0	0	1	1	2	1	1	2	6	2	4	2	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100491612G>A	ENST00000302913.4	-	2	380	c.242C>T	c.(241-243)cCg>cTg	p.P81L	ACHE_ENST00000419336.2_Missense_Mutation_p.P81L|ACHE_ENST00000428317.1_Missense_Mutation_p.P81L|ACHE_ENST00000412389.1_Missense_Mutation_p.P81L|ACHE_ENST00000241069.5_Missense_Mutation_p.P81L|ACHE_ENST00000411582.1_Missense_Mutation_p.P81L	NM_015831.2	NP_056646.1	P22303	ACES_HUMAN	acetylcholinesterase	81					acetylcholine catabolic process in synaptic cleft|amyloid precursor protein metabolic process|cell adhesion|cell proliferation|choline metabolic process|DNA replication|muscle organ development|neurotransmitter biosynthetic process|osteoblast development|positive regulation of protein secretion|regulation of axonogenesis|regulation of dendrite morphogenesis|response to wounding|synapse assembly	anchored to membrane|axon|basal lamina|cell junction|cell surface|dendrite|endoplasmic reticulum lumen|extracellular space|Golgi apparatus|neuromuscular junction|nucleus|perinuclear region of cytoplasm|postsynaptic membrane|presynaptic membrane|synaptic cleft	acetylcholine binding|acetylcholinesterase activity|beta-amyloid binding|carboxylesterase activity|cholinesterase activity|collagen binding|laminin-1 binding|protein homodimerization activity|serine hydrolase activity			large_intestine(3)|lung(7)|skin(3)|urinary_tract(3)	16	Lung NSC(181;0.041)|all_lung(186;0.0581)				Ambenonium(DB01122)|Atropine(DB00572)|Choline(DB00122)|Decamethonium(DB01245)|Demecarium bromide(DB00944)|Donepezil(DB00843)|Edrophonium(DB01010)|Ephedrine(DB01364)|Galantamine(DB00674)|Gallamine Triethiodide(DB00483)|Isoflurophate(DB00677)|Neostigmine(DB01400)|Physostigmine(DB00981)|Pyridostigmine(DB00545)|Rivastigmine(DB00989)|Tacrine(DB00382)|Tubocurarine(DB01199)	CTTGGGCTCCGGTGGCAGAAA	0.622													A	100491612	G	A	100491612	3	1	364	1	0	0	0	0	1	0	0	0	141	1116	39	1	1753	1	ACHE	7	100491612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	413	100491612	58647051	6263	29765											
MUC17	140453	broad.mit.edu	37	chr7	100674976	100674976	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaaccctgagatgacctcGattgagtccagtgtgacttc	10	10	9	12	1	0	4	0	4	0	1	3	6	1	4	4	0	1	0	4	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100674976G>A	ENST00000306151.4	+	3	343	c.279G>A	c.(277-279)tcG>tcA	p.S93S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	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)					AGATGACCTCGATTGAGTCCA	0.488													A	100674976	G	A	100674976	2	1	364	1	0	0	0	0	0	0	0	1	10050	1045	37	1		1	MUC17	7	100674976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183364	100674976	58463687	6264	29766											
MUC17	140453	broad.mit.edu	37	chr7	100675272	100675272	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacctctgaccacttctaCtcaggcaagttcatctccta	10	11	4	16	0	5	1	2	1	3	0	6	1	5	1	3	1	1	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675272C>A	ENST00000306151.4	+	3	639	c.575C>A	c.(574-576)aCt>aAt	p.T192N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	192	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)					ACCACTTCTACTCAGGCAAGT	0.453													A	100675272	C	A	100675272	3	1	364	1	0	0	0	0	1	0	0	0	10050	565	20	4	585	4	MUC17	7	100675272	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296	100675272	58463391	6265	29767											
MUC17	140453	broad.mit.edu	37	chr7	100675687	100675687	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccaacctcaacttatacTgaaggaagcactccattaac	16	9	4	12	0	1	1	1	1	0	0	2	2	2	2	3	1	6	1	3	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100675687T>G	ENST00000306151.4	+	3	1054	c.990T>G	c.(988-990)acT>acG	p.T330T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	330	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)					CAACTTATACTGAAGGAAGCA	0.493													G	100675687	T	G	100675687	2	3	364	1	0	0	0	0	0	0	0	1	10050	1567	55	5		5	MUC17	7	100675687	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	415	100675687	58462976	6266	29768											
MUC17	140453	broad.mit.edu	37	chr7	100676655	100676655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaccctttcaacaactcCtgttgactccaacactcctg	10	11	4	16	0	1	1	1	1	0	0	4	1	4	1	4	0	4	2	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100676655C>A	ENST00000306151.4	+	3	2022	c.1958C>A	c.(1957-1959)cCt>cAt	p.P653H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	653	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)					TCAACAACTCCTGTTGACTCC	0.478													A	100676655	C	A	100676655	3	1	364	1	0	0	0	0	1	0	0	0	10050	681	24	4	1968	4	MUC17	7	100676655	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968	100676655	58462008	6267	29769											
MUC17	140453	broad.mit.edu	37	chr7	100677590	100677590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctactgaagccacttcatctCctacaactgctgaaggtacc	11	10	6	14	0	2	2	1	2	1	0	3	2	2	2	3	1	6	2	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100677590C>T	ENST00000306151.4	+	3	2957	c.2893C>T	c.(2893-2895)Cct>Tct	p.P965S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	965	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)					CACTTCATCTCCTACAACTGC	0.522													T	100677590	C	T	100677590	3	4	364	1	0	0	0	0	1	0	0	0	10050	855	30	2	2903	2	MUC17	7	100677590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	935	100677590	58461073	6268	29770											
MUC17	140453	broad.mit.edu	37	chr7	100679256	100679256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcattaacaagtatacCtgtcagcaccacaacagtgg	14	8	7	12	0	1	0	1	0	0	0	1	0	1	0	2	1	5	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100679256C>A	ENST00000306151.4	+	3	4623	c.4559C>A	c.(4558-4560)cCt>cAt	p.P1520H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1520	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)					ACAAGTATACCTGTCAGCACC	0.478													A	100679256	C	A	100679256	3	1	364	1	0	0	0	0	1	0	0	0	10050	681	24	4	4569	4	MUC17	7	100679256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1666	100679256	58459407	6269	29771											
MUC17	140453	broad.mit.edu	37	chr7	100680859	100680859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtatgcctgtcagcactacGcttgtggtcagttctgaggg	6	12	14	9	1	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100680859G>A	ENST00000306151.4	+	3	6226	c.6162G>A	c.(6160-6162)acG>acA	p.T2054T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2054	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)					TCAGCACTACGCTTGTGGTCA	0.493													A	100680859	G	A	100680859	2	1	364	1	0	0	0	0	0	0	0	1	10050	1074	38	1		1	MUC17	7	100680859	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1603	100680859	58457804	6270	29772											
MUC17	140453	broad.mit.edu	37	chr7	100681191	100681191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagaactcctttaacaaGtatgcctgtcagcaccacag	14	8	7	12	0	1	2	1	0	0	2	2	2	2	2	3	0	4	2	3	0	5	3	rs148535690		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100681191G>A	ENST00000306151.4	+	3	6558	c.6494G>A	c.(6493-6495)aGt>aAt	p.S2165N		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2165	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)					CCTTTAACAAGTATGCCTGTC	0.468													A	100681191	G	A	100681191	3	1	364	1	0	0	0	0	1	0	0	0	10050	1029	36	2	6504	2	MUC17	7	100681191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332	100681191	58457472	6271	29773											
MUC17	140453	broad.mit.edu	37	chr7	100682290	100682290	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccagtggccagtcctgaGgctagcaccctttcaacaac	10	7	9	15	1	1	1	1	1	0	0	2	1	2	1	4	2	3	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100682290G>T	ENST00000306151.4	+	3	7657	c.7593G>T	c.(7591-7593)gaG>gaT	p.E2531D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2531	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)					CCAGTCCTGAGGCTAGCACCC	0.488													T	100682290	G	T	100682290	3	4	364	1	0	0	0	0	1	0	0	0	10050	991	35	4	7603	4	MUC17	7	100682290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1099	100682290	58456373	6272	29774											
MUC17	140453	broad.mit.edu	37	chr7	100683263	100683263	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catctcctacaactgctgaaGgtatcgtcgtgccaatctca	10	11	7	13	2	2	1	1	1	2	0	6	1	2	1	2	1	4	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100683263G>T	ENST00000306151.4	+	3	8630	c.8566G>T	c.(8566-8568)Ggt>Tgt	p.G2856C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2856	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)					AACTGCTGAAGGTATCGTCGT	0.512													T	100683263	G	T	100683263	3	4	364	1	0	0	0	0	1	0	0	0	10050	1000	35	4	8576	4	MUC17	7	100683263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	973	100683263	58455400	6273	29775											
MUC17	140453	broad.mit.edu	37	chr7	100684837	100684837	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactgaagccagtttatcTcctacaactgctgaaggtac	11	12	7	11	0	2	2	0	2	2	0	3	2	2	2	2	1	6	3	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684837T>A	ENST00000306151.4	+	3	10204	c.10140T>A	c.(10138-10140)tcT>tcA	p.S3380S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3380	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)					CCAGTTTATCTCCTACAACTG	0.522													A	100684837	T	A	100684837	2	1	364	1	0	0	0	0	0	0	0	1	10050	1538	54	5		5	MUC17	7	100684837	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1574	100684837	58453826	6274	29776											
MUC17	140453	broad.mit.edu	37	chr7	100684913	100684913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattagcaagtatgcctGtcagcaccacgccggtggtc	8	9	10	14	2	1	0	1	0	0	0	3	0	2	0	4	2	3	3	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100684913G>A	ENST00000306151.4	+	3	10280	c.10216G>A	c.(10216-10218)Gtc>Atc	p.V3406I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3406	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)					AAGTATGCCTGTCAGCACCAC	0.493													A	100684913	G	A	100684913	3	1	364	1	0	0	0	0	1	0	0	0	10050	1377	48	2	10226	2	MUC17	7	100684913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76	100684913	58453750	6275	29777											
MUC17	140453	broad.mit.edu	37	chr7	100685598	100685598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaactcctagtgaagtaaGcactccattaaccattatgc	13	11	6	11	0	1	1	1	1	0	0	3	1	3	1	3	0	4	2	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100685598G>T	ENST00000306151.4	+	3	10965	c.10901G>T	c.(10900-10902)aGc>aTc	p.S3634I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3634	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)					AGTGAAGTAAGCACTCCATTA	0.488													T	100685598	G	T	100685598	3	4	364	1	0	0	0	0	1	0	0	0	10050	971	34	4	10911	4	MUC17	7	100685598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	685	100685598	58453065	6276	29778											
MUC17	140453	broad.mit.edu	37	chr7	100686241	100686241	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcacacctttgctcacCtctaccaaagccggttcatt	10	10	5	16	1	3	0	2	0	1	0	3	0	3	0	5	1	4	3	5	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100686241C>A	ENST00000306151.4	+	3	11608	c.11544C>A	c.(11542-11544)acC>acA	p.T3848T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3848						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)					CTTTGCTCACCTCTACCAAAG	0.458													A	100686241	C	A	100686241	2	1	364	1	0	0	0	0	0	0	0	1	10050	668	24	4		4	MUC17	7	100686241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	643	100686241	58452422	6277	29779											
MUC17	140453	broad.mit.edu	37	chr7	100693793	100693793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtggtggagcatgacGtcctcctaagaaccaagtac	10	9	13	9	1	0	2	0	1	0	1	2	3	2	3	3	3	3	2	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100693793G>A	ENST00000306151.4	+	7	12815	c.12751G>A	c.(12751-12753)Gtc>Atc	p.V4251I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4251	SEA.					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)					GGAGCATGACGTCCTCCTAAG	0.478													A	100693793	G	A	100693793	3	1	364	1	0	0	0	0	1	0	0	0	10050	1145	40	1	12777	1	MUC17	7	100693793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7552	100693793	58444870	6278	29780											
SERPINE1	5054	broad.mit.edu	37	chr7	100779016	100779016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagagcctctccacgtcGcgcaggcgctgcagaaagtg	10	5	12	14	4	1	2	0	0	1	2	3	2	1	2	3	1	2	3	3	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100779016G>A	ENST00000223095.4	+	7	1178	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T	SERPINE1_ENST00000445463.2_Missense_Mutation_p.A326T	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCTCCACGTCGCGCAGGCGCT	0.582													A	100779016	G	A	100779016	3	1	364	1	0	0	0	0	1	0	0	0	14204	1087	38	1	1043	1	SERPINE1	7	100779016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85223	100779016	58359647	6279	29781											
MOGAT3	346606	broad.mit.edu	37	chr7	100839254	100839254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgaggcaggtggaagcGgggaccccacagctttcctt	9	7	15	10	1	0	1	0	1	0	0	1	3	1	3	3	6	2	2	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839254G>A	ENST00000379423.3	-	6	856	c.796C>T	c.(796-798)Cgc>Tgc	p.R266C	MOGAT3_ENST00000440203.2_3'UTR|MOGAT3_ENST00000223114.4_Silent_p.P333P			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGGTGGAAGCGGGGACCCCAC	0.632													A	100839254	G	A	100839254	3	1	364	1	0	0	0	0	1	0	0	0	9772	1103	39	1	30	1	MOGAT3	7	100839254	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60238	100839254	58299409	6280	29782											
MOGAT3	346606	broad.mit.edu	37	chr7	100839654	100839654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccccaaaggagtacaCgggcaccagggacgccctgg	10	5	12	14	2	1	0	0	0	1	0	2	2	1	2	4	4	1	2	4	4	2	2	rs151326500		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100839654C>T	ENST00000223114.4	-	6	851	c.685G>A	c.(685-687)Gtg>Atg	p.V229M	MOGAT3_ENST00000440203.2_Missense_Mutation_p.V229M|MOGAT3_ENST00000379423.3_Intron	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	229					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AAGGAGTACACGGGCACCAGG	0.587													T	100839654	C	T	100839654	3	4	364	1	0	0	0	0	1	0	0	0	9772	536	19	1	348	1	MOGAT3	7	100839654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	400	100839654	58299009	6281	29783											
MOGAT3	346606	broad.mit.edu	37	chr7	100843729	100843729	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacatagagccacaccaaGtaaaaaacagagaagggcca	19	3	8	11	0	0	2	0	0	0	2	1	3	1	2	4	1	2	1	4	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100843729G>T	ENST00000223114.4	-	2	343	c.177C>A	c.(175-177)taC>taA	p.Y59*	MOGAT3_ENST00000440203.2_Nonsense_Mutation_p.Y59*|MOGAT3_ENST00000379423.3_Nonsense_Mutation_p.Y59*	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	59					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GCCACACCAAGTAAAAAACAG	0.557													T	100843729	G	T	100843729	4	4	364	1	0	0	0	0	0	1	0	0	9772	1024	36	4	872	4	MOGAT3	7	100843729	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4075	100843729	58294934	6282	29784											
PLOD3	8985	broad.mit.edu	37	chr7	100859762	100859762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctttaaccaccggacCttctgtcctccaccaactgt	7	13	4	17	1	2	0	0	0	2	0	5	1	5	1	7	1	2	0	7	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100859762C>A	ENST00000223127.3	-	3	665	c.267G>T	c.(265-267)aaG>aaT	p.K89N		NM_001084.4	NP_001075.1	O60568	PLOD3_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3	89					protein modification process	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	31	Lung NSC(181;0.168)|all_lung(186;0.215)				Succinic acid(DB00139)|Vitamin C(DB00126)	ACCACCGGACCTTCTGTCCTC	0.577													A	100859762	C	A	100859762	3	1	364	1	0	0	0	0	1	0	0	0	12180	680	24	4	2017	4	PLOD3	7	100859762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16033	100859762	58278901	6283	29785											
RABL5	64792	broad.mit.edu	37	chr7	100959652	100959652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctttatcatctccagaGcctggtttgtggtgtgcaat	6	16	9	10	0	2	1	1	0	1	1	4	1	3	1	3	2	2	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:100959652G>A	ENST00000517481.1	-	5	517	c.147C>T	c.(145-147)ggC>ggT	p.G49G	RABL5_ENST00000495166.1_5'UTR|RABL5_ENST00000437644.2_Silent_p.G96G|RABL5_ENST00000315322.4_Silent_p.G126G|RABL5_ENST00000498704.2_Silent_p.G49G			Q9H7X7	RABL5_HUMAN	RAB, member RAS oncogene family-like 5	126							GTP binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	7	Lung NSC(181;0.215)					CATCTCCAGAGCCTGGTTTGT	0.448													A	100959652	G	A	100959652	2	1	364	1	0	0	0	0	0	0	0	1	13061	958	34	2		2	RABL5	7	100959652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99890	100959652	58179011	6284	29786											
CUX1	1523	broad.mit.edu	37	chr7	101838849	101838849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctcgctgcagtccgagaaCgccgcgctgcgcatctccaa	7	6	11	17	7	1	1	0	0	1	1	4	2	2	1	3	0	3	5	3	0	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101838849C>T	ENST00000360264.3	+	14	1241	c.1221C>T	c.(1219-1221)aaC>aaT	p.N407N	CUX1_ENST00000549414.2_Silent_p.N396N|CUX1_ENST00000292535.7_Silent_p.N396N|CUX1_ENST00000546411.2_Silent_p.N396N|CUX1_ENST00000550008.2_Silent_p.N396N|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000393824.3_Silent_p.N368N|CUX1_ENST00000547394.2_Silent_p.N391N|CUX1_ENST00000556210.1_Silent_p.N396N|CUX1_ENST00000292538.4_Silent_p.N407N|CUX1_ENST00000425244.2_Silent_p.N361N|CUX1_ENST00000437600.4_Silent_p.N405N	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	396					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						AGTCCGAGAACGCCGCGCTGC	0.682													T	101838849	C	T	101838849	2	4	364	1	0	0	0	0	0	0	0	1	4097	535	19	1		1	CUX1	7	101838849	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879197	101838849	57299814	6285	29787											
CUX1	1523	broad.mit.edu	37	chr7	101842124	101842124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactatttcaggaagtacCgaaacgaagaaatgggtctg	15	8	11	7	2	2	2	1	0	1	2	2	5	2	3	1	2	2	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101842124C>T	ENST00000360264.3	+	16	1990	c.1970C>T	c.(1969-1971)cCg>cTg	p.P657L	CUX1_ENST00000549414.2_Intron|CUX1_ENST00000292535.7_Missense_Mutation_p.P646L|CUX1_ENST00000546411.2_Missense_Mutation_p.P544L|CUX1_ENST00000550008.2_Intron|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000393824.3_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Intron|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	646					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGAAGTACCGAAACGAAGA	0.458													T	101842124	C	T	101842124	3	4	364	1	0	0	0	0	1	0	0	0	4097	652	23	1	2066	1	CUX1	7	101842124	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3275	101842124	57296539	6286	29788											
CUX1	1523	broad.mit.edu	37	chr7	101845057	101845057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaccactggtggagcgCggtgcagccggagagaagaa	12	3	18	8	3	0	2	0	0	0	2	0	7	0	5	2	5	3	1	2	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101845057C>T	ENST00000360264.3	+	18	2533	c.2513C>T	c.(2512-2514)gCg>gTg	p.A838V	CUX1_ENST00000549414.2_Missense_Mutation_p.A805V|CUX1_ENST00000292535.7_Missense_Mutation_p.A827V|CUX1_ENST00000546411.2_Missense_Mutation_p.A725V|CUX1_ENST00000550008.2_Missense_Mutation_p.A771V|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.A669V|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	827					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGGTGGAGCGCGGTGCAGCCG	0.662													T	101845057	C	T	101845057	3	4	364	1	0	0	0	0	1	0	0	0	4097	768	27	1	2617	1	CUX1	7	101845057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2933	101845057	57293606	6287	29789											
CUX1	1523	broad.mit.edu	37	chr7	101877506	101877506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgatggacatgaaacGgatggagaagaaaggtaagt	17	6	15	3	1	0	4	0	2	0	2	0	8	0	6	0	4	2	2	0	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101877506G>A	ENST00000360264.3	+	22	3661	c.3641G>A	c.(3640-3642)cGg>cAg	p.R1214Q	CUX1_ENST00000549414.2_Missense_Mutation_p.R1181Q|CUX1_ENST00000292535.7_Missense_Mutation_p.R1203Q|CUX1_ENST00000546411.2_Missense_Mutation_p.R1101Q|CUX1_ENST00000550008.2_Missense_Mutation_p.R1147Q|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Missense_Mutation_p.R1045Q|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1203					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GACATGAAACGGATGGAGAAG	0.547													A	101877506	G	A	101877506	3	1	364	1	0	0	0	0	1	0	0	0	4097	1116	39	1	3761	1	CUX1	7	101877506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32449	101877506	57261157	6288	29790											
CUX1	1523	broad.mit.edu	37	chr7	101891755	101891755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtcagggccaggcgggCgccagcgactcaccctcggc	6	3	17	15	4	2	0	2	0	0	0	3	2	2	1	3	5	1	0	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:101891755C>T	ENST00000360264.3	+	24	4004	c.3984C>T	c.(3982-3984)ggC>ggT	p.G1328G	CUX1_ENST00000549414.2_Silent_p.G1295G|CUX1_ENST00000292535.7_Silent_p.G1317G|CUX1_ENST00000546411.2_Silent_p.G1215G|CUX1_ENST00000550008.2_Silent_p.G1261G|CUX1_ENST00000560541.1_Intron|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000556210.1_Silent_p.G1159G|CUX1_ENST00000292538.4_Intron|CUX1_ENST00000425244.2_Intron|CUX1_ENST00000437600.4_Intron|CUX1_ENST00000393824.3_Intron	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	1317					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						GCCAGGCGGGCGCCAGCGACT	0.711													T	101891755	C	T	101891755	2	4	364	1	0	0	0	0	0	0	0	1	4097	755	27	1		1	CUX1	7	101891755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14249	101891755	57246908	6289	29791											
ORAI2	80228	broad.mit.edu	37	chr7	102087139	102087139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaacctgaactccatcagCgagtccccgcatgagcgcat	11	6	8	16	3	1	2	1	2	0	0	3	3	3	2	4	0	4	2	4	0	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102087139C>T	ENST00000356387.2	+	4	640	c.405C>T	c.(403-405)agC>agT	p.S135S	ORAI2_ENST00000473939.1_Silent_p.S135S|ORAI2_ENST00000478730.2_Silent_p.S135S|ORAI2_ENST00000403646.3_Silent_p.S135S|ORAI2_ENST00000488996.1_3'UTR	NM_001126340.1|NM_001271818.1|NM_001271819.1|NM_032831.3	NP_001119812.1|NP_001258747.1|NP_001258748.1|NP_116220.1	Q96SN7	ORAI2_HUMAN	ORAI calcium release-activated calcium modulator 2	135						integral to membrane	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	15						ACTCCATCAGCGAGTCCCCGC	0.627													T	102087139	C	T	102087139	2	4	364	1	0	0	0	0	0	0	0	1	11334	767	27	1		1	ORAI2	7	102087139	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195384	102087139	57051524	6290	29792											
ALKBH4	54784	broad.mit.edu	37	chr7	102098304	102098304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgcactgctcgacgggcCggaagccctccagccccggg	5	5	15	16	4	0	0	0	0	0	0	2	2	1	1	5	4	4	3	5	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102098304C>T	ENST00000292566.3	-	3	485	c.446G>A	c.(445-447)cGg>cAg	p.R149Q		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	149						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						CTCGACGGGCCGGAAGCCCTC	0.692													T	102098304	C	T	102098304	3	4	364	1	0	0	0	0	1	0	0	0	529	652	23	1	466	1	ALKBH4	7	102098304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11165	102098304	57040359	6291	29793											
ALKBH4	54784	broad.mit.edu	37	chr7	102100177	102100177	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggaaggggaaggcccaGccctcaaagtcagactcctc	10	5	12	14	0	2	1	2	0	0	1	4	3	3	3	4	4	1	0	4	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102100177G>A	ENST00000292566.3	-	2	234	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	65						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(5)|skin(2)	8						GGAAGGCCCAGCCCTCAAAGT	0.577													A	102100177	G	A	102100177	2	1	364	1	0	0	0	0	0	0	0	1	529	958	34	2		2	ALKBH4	7	102100177	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1873	102100177	57038486	6292	29794											
LRWD1	222229	broad.mit.edu	37	chr7	102106493	102106493	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagggcaaccccttcCtgacggtaagtgggagcctc	7	7	14	13	1	0	1	0	1	0	0	2	3	1	3	5	4	2	2	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102106493C>A	ENST00000292616.5	+	2	462	c.310C>A	c.(310-312)Ctg>Atg	p.L104M		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	104					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CAACCCCTTCCTGACGGTAAG	0.617													A	102106493	C	A	102106493	3	1	364	1	0	0	0	0	1	0	0	0	9117	680	24	4	316	4	LRWD1	7	102106493	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6316	102106493	57032170	6293	29795											
LRWD1	222229	broad.mit.edu	37	chr7	102110021	102110021	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccccaccccctcttcagCggcctcctatgacaagcgga	8	7	7	19	2	2	1	1	1	1	0	3	2	3	2	6	2	3	0	6	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102110021C>T	ENST00000292616.5	+	10	1381	c.1229C>T	c.(1228-1230)aCg>aTg	p.T410M		NM_152892.1	NP_690852.1	Q9UFC0	LRWD1_HUMAN	leucine-rich repeats and WD repeat domain containing 1	410					chromatin modification|DNA-dependent DNA replication initiation|establishment of protein localization to chromatin|G1 phase of mitotic cell cycle	centromeric heterochromatin|nuclear origin of replication recognition complex|telomeric heterochromatin	chromatin binding|methyl-CpG binding|methylated histone residue binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|stomach(2)	20						CCCTCTTCAGCGGCCTCCTAT	0.647													T	102110021	C	T	102110021	5	4	364	1	0	0	0	0	0	0	1	0	9117	782	27	1	1267	1	LRWD1	7	102110021	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3528	102110021	57028642	6294	29796											
LRRC17	10234	broad.mit.edu	37	chr7	102574889	102574889	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatagaaacgcttatttcaAtgttgcagattcccaggaac	14	11	8	8	1	1	3	1	0	0	3	2	4	2	4	1	1	3	3	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102574889A>T	ENST00000249377.4	+	2	810	c.529A>T	c.(529-531)Atg>Ttg	p.M177L	FBXL13_ENST00000313221.4_Intron|FBXL13_ENST00000455112.2_Intron|FBXL13_ENST00000456695.1_Intron|FBXL13_ENST00000436908.1_Intron|FBXL13_ENST00000379308.3_Intron|FBXL13_ENST00000379305.3_Intron|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000393772.2_Intron|LRRC17_ENST00000339431.4_Missense_Mutation_p.M177L	NM_005824.2	NP_005815.2	Q8N6Y2	LRC17_HUMAN	leucine rich repeat containing 17	177	LRRCT 1.				bone marrow development|negative regulation of osteoclast differentiation|ossification	extracellular space				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	17						GCTTATTTCAATGTTGCAGAT	0.428													T	102574889	A	T	102574889	3	4	364	1	0	0	0	0	1	0	0	0	9043	101	4	5	531	5	LRRC17	7	102574889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	464868	102574889	56563774	6295	29797											
NAPEPLD	222236	broad.mit.edu	37	chr7	102760494	102760494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctttggacccatgtactgCgatggtgaagcacgagagct	9	9	13	10	3	0	2	0	1	0	1	0	5	0	3	1	2	4	4	1	2	2	2	rs144069186		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102760494C>T	ENST00000417955.1	-	3	625	c.471G>A	c.(469-471)tcG>tcA	p.S157S	NAPEPLD_ENST00000455523.2_Silent_p.S230S|NAPEPLD_ENST00000465647.1_Silent_p.S157S|NAPEPLD_ENST00000427257.1_Silent_p.S157S|NAPEPLD_ENST00000341533.4_Silent_p.S157S			Q6IQ20	NAPEP_HUMAN	N-acyl phosphatidylethanolamine phospholipase D	157					phospholipid catabolic process	membrane	metal ion binding			endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATGTACTGCGATGGTGAAG	0.493													T	102760494	C	T	102760494	2	4	364	1	0	0	0	0	0	0	0	1	10239	755	27	1		1	NAPEPLD	7	102760494	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185605	102760494	56378169	6296	29798											
PMPCB	9512	broad.mit.edu	37	chr7	102944426	102944426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttgattatcttcatGccacagcttatcaaaatact	11	18	4	8	0	3	1	2	1	1	0	3	1	3	1	1	0	3	2	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102944426G>A	ENST00000249269.4	+	5	633	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	PMPCB_ENST00000428154.1_Missense_Mutation_p.A199T|PMPCB_ENST00000420236.2_Missense_Mutation_p.A94T	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	199					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTATCTTCATGCCACAGCTTA	0.373													A	102944426	G	A	102944426	3	1	364	1	0	0	0	0	1	0	0	0	12218	1319	46	2	613	2	PMPCB	7	102944426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183932	102944426	56194237	6297	29799											
DNAJC2	27000	broad.mit.edu	37	chr7	102956235	102956235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatcgttctgaaggcgttgCgttgtctgcttgaggtacca	8	13	12	8	3	2	2	0	2	2	0	3	2	2	2	1	2	3	5	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:102956235C>T	ENST00000379263.3	-	15	1862	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.A485T	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	538					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						GAAGGCGTTGCGTTGTCTGCT	0.373													T	102956235	C	T	102956235	3	4	364	1	0	0	0	0	1	0	0	0	4678	768	27	1	265	1	DNAJC2	7	102956235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11809	102956235	56182428	6298	29800											
PSMC2	5701	broad.mit.edu	37	chr7	103003137	103003137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttttacttccttagcgtgGatagaaataaatatcaaatt	14	17	5	5	1	1	1	1	0	0	1	2	2	2	2	1	1	2	0	1	1	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103003137G>A	ENST00000435765.1	+	7	838	c.427G>A	c.(427-429)Gat>Aat	p.D143N	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Missense_Mutation_p.D143N|PSMC2_ENST00000544811.1_Missense_Mutation_p.D6N	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	143					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						CCTTAGCGTGGATAGAAATAA	0.343													A	103003137	G	A	103003137	3	1	364	1	0	0	0	0	1	0	0	0	12771	1174	41	2	449	2	PSMC2	7	103003137	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46902	103003137	56135526	6299	29801											
PSMC2	5701	broad.mit.edu	37	chr7	103008238	103008238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttgaactgttagcacgaCtgtgtccaaatagcactggt	11	12	10	8	1	0	1	0	1	0	0	1	3	1	1	1	1	3	3	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103008238C>T	ENST00000435765.1	+	12	1537	c.1126C>T	c.(1126-1128)Ctg>Ttg	p.L376L	SLC26A5_ENST00000339444.6_Intron|SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000356767.4_Intron|PSMC2_ENST00000292644.3_Silent_p.L376L|PSMC2_ENST00000544811.1_Silent_p.L239L	NM_002803.3	NP_002794.1	P35998	PRS7_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 2	376					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	21						GTTAGCACGACTGTGTCCAAA	0.373													T	103008238	C	T	103008238	2	4	364	1	0	0	0	0	0	0	0	1	12771	564	20	2		2	PSMC2	7	103008238	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5101	103008238	56130425	6300	29802											
RELN	5649	broad.mit.edu	37	chr7	103132400	103132400	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaattatttcacaaacCttgcatccttagtgtattcc	13	16	3	9	0	1	0	1	0	0	0	3	0	3	0	3	0	2	2	3	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103132400C>T	ENST00000428762.1	-	58	9602	c.9443G>A	c.(9442-9444)aGa>aAa	p.R3148K	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Splice_Site_p.R3148K|RELN_ENST00000424685.2_Splice_Site_p.R3148K	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	3148					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TTTCACAAACCTTGCATCCTT	0.388													T	103132400	C	T	103132400	5	4	364	1	0	0	0	0	0	0	1	0	13308	695	24	2	971	2	RELN	7	103132400	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124162	103132400	56006263	6301	29803											
RELN	5649	broad.mit.edu	37	chr7	103138684	103138684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttcttcactgtcaaagcGttccttcaggaaagtctgga	10	13	9	9	1	5	0	3	0	2	0	6	3	6	2	1	2	1	1	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103138684G>A	ENST00000428762.1	-	54	8842	c.8683C>T	c.(8683-8685)Cgc>Tgc	p.R2895C	CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.R2895C|RELN_ENST00000424685.2_Missense_Mutation_p.R2895C	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2895					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CTGTCAAAGCGTTCCTTCAGG	0.378													A	103138684	G	A	103138684	3	1	364	1	0	0	0	0	1	0	0	0	13308	1145	40	1	1747	1	RELN	7	103138684	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6284	103138684	55999979	6302	29804											
RELN	5649	broad.mit.edu	37	chr7	103159852	103159852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagaatattccaagagaaCaccttggttacggttgtttg	12	12	10	7	1	0	2	0	0	0	2	1	4	1	2	2	2	2	3	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103159852C>T	ENST00000424685.2	-	49	7939	c.7780G>A	c.(7780-7782)Gtt>Att	p.V2594I	RELN_ENST00000343529.5_Missense_Mutation_p.V2594I|RELN_ENST00000428762.1_Missense_Mutation_p.V2594I			P78509	RELN_HUMAN	reelin	2594					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAAGAGAACACCTTGGTTA	0.408													T	103159852	C	T	103159852	3	4	364	1	0	0	0	0	1	0	0	0	13308	478	17	2	2670	2	RELN	7	103159852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21168	103159852	55978811	6303	29805											
RELN	5649	broad.mit.edu	37	chr7	103202385	103202385	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggcctgaatccatctgaaCcgggtcctgggagaactaac	10	9	11	11	1	1	3	0	2	1	1	3	4	3	3	4	3	3	0	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103202385C>A	ENST00000424685.2	-	35	5385	c.5226G>T	c.(5224-5226)cgG>cgT	p.R1742R	RELN_ENST00000343529.5_Silent_p.R1742R|RELN_ENST00000428762.1_Silent_p.R1742R			P78509	RELN_HUMAN	reelin	1742					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCATCTGAACCGGGTCCTGG	0.453													A	103202385	C	A	103202385	2	1	364	1	0	0	0	0	0	0	0	1	13308	494	18	4		4	RELN	7	103202385	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42533	103202385	55936278	6304	29806											
RELN	5649	broad.mit.edu	37	chr7	103234855	103234855	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgactgcccactggtcataGtcctcccctgagaacacggg	8	8	10	15	2	1	1	1	1	0	1	4	3	3	1	4	2	2	0	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103234855G>T	ENST00000424685.2	-	26	3783	c.3624C>A	c.(3622-3624)gaC>gaA	p.D1208E	RELN_ENST00000343529.5_Missense_Mutation_p.D1208E|RELN_ENST00000428762.1_Missense_Mutation_p.D1208E			P78509	RELN_HUMAN	reelin	1208					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTGGTCATAGTCCTCCCCTG	0.493													T	103234855	G	T	103234855	3	4	364	1	0	0	0	0	1	0	0	0	13308	1020	36	4	6918	4	RELN	7	103234855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32470	103234855	55903808	6305	29807											
RELN	5649	broad.mit.edu	37	chr7	103293192	103293192	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaggattgatgaccacagaAaccaaagacggaacctttca	16	7	8	10	1	2	4	2	2	0	2	2	6	2	6	3	2	2	0	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:103293192A>G	ENST00000424685.2	-	14	1728	c.1569T>C	c.(1567-1569)gtT>gtC	p.V523V	RELN_ENST00000343529.5_Silent_p.V523V|RELN_ENST00000428762.1_Silent_p.V523V			P78509	RELN_HUMAN	reelin	523					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TGACCACAGAAACCAAAGACG	0.413													G	103293192	A	G	103293192	2	3	364	1	0	0	0	0	0	0	0	1	13308	1	1	3		3	RELN	7	103293192	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58337	103293192	55845471	6306	29808											
PUS7	54517	broad.mit.edu	37	chr7	105148912	105148912	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcattatcttcgacaacCagtgccccacgtttcagcga	9	11	7	14	3	3	0	2	0	1	0	4	2	3	0	3	0	3	1	3	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105148912C>A	ENST00000356362.2	-	2	262	c.48G>T	c.(46-48)ctG>ctT	p.L16L	PUS7_ENST00000469408.1_Silent_p.L16L	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	16					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						CTTCGACAACCAGTGCCCCAC	0.433													A	105148912	C	A	105148912	2	1	364	1	0	0	0	0	0	0	0	1	12921	581	21	4		4	PUS7	7	105148912	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1855720	105148912	53989751	6307	29809											
RINT1	60561	broad.mit.edu	37	chr7	105177032	105177032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacataaatgttacagttCttattggaagtaaacaagtc	15	13	8	5	0	1	1	0	1	1	0	2	2	1	2	0	1	2	3	0	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105177032C>T	ENST00000257700.2	+	3	340	c.109C>T	c.(109-111)Ctt>Ttt	p.L37F		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	37					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGTTACAGTTCTTATTGGAAG	0.323													T	105177032	C	T	105177032	3	4	364	1	0	0	0	0	1	0	0	0	13467	913	32	2	119	2	RINT1	7	105177032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28120	105177032	53961631	6308	29810											
CDHR3	222256	broad.mit.edu	37	chr7	105662783	105662783	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctacgtaactgatgaCaacttgatgtctgacaggaa	12	12	9	8	1	2	4	0	4	2	0	2	5	2	5	0	1	3	1	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105662783C>T	ENST00000542731.1	+	14	2073	c.1965C>T	c.(1963-1965)gaC>gaT	p.D655D	CDHR3_ENST00000470188.1_Intron|CDHR3_ENST00000317716.9_Silent_p.D655D|CDHR3_ENST00000478080.1_Silent_p.D567D|CDHR3_ENST00000343407.5_Intron			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	655	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						TAACTGATGACAACTTGATGT	0.463													T	105662783	C	T	105662783	2	4	364	1	0	0	0	0	0	0	0	1	3150	477	17	2		2	CDHR3	7	105662783	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	485751	105662783	53475880	6309	29811											
CDHR3	222256	broad.mit.edu	37	chr7	105664969	105664969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggccaaagccatccacaGacactgcccctgcaagactg	12	6	8	15	0	0	2	0	0	0	2	1	2	1	2	5	1	3	1	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105664969G>T	ENST00000542731.1	+	15	2327	c.2219G>T	c.(2218-2220)aGa>aTa	p.R740I	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Missense_Mutation_p.R740I|CDHR3_ENST00000478080.1_Missense_Mutation_p.R652I|CDHR3_ENST00000343407.5_Missense_Mutation_p.Q242H			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	740					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						GCCATCCACAGACACTGCCCC	0.547													T	105664969	G	T	105664969	3	4	364	1	0	0	0	0	1	0	0	0	3150	942	33	4	2277	4	CDHR3	7	105664969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2186	105664969	53473694	6310	29812											
NAMPT	10135	broad.mit.edu	37	chr7	105893480	105893480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgaccatattcctcaaGgtctccttttccttcctcca	7	15	3	16	0	2	1	1	1	1	0	7	1	6	1	7	1	1	0	7	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105893480G>T	ENST00000222553.3	-	10	1655	c.1348C>A	c.(1348-1350)Ctt>Att	p.L450I		NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	450					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TATTCCTCAAGGTCTCCTTTT	0.398													T	105893480	G	T	105893480	3	4	364	1	0	0	0	0	1	0	0	0	10225	1000	35	4	135	4	NAMPT	7	105893480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228511	105893480	53245183	6311	29813											
NAMPT	10135	broad.mit.edu	37	chr7	105909631	105909631	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcctctgtagccaaaaTcatgtaacttgtattccaga	13	12	6	10	0	2	2	1	0	1	2	4	2	4	2	3	0	2	3	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105909631T>A	ENST00000222553.3	-	5	882	c.575A>T	c.(574-576)gAt>gTt	p.D192V	NAMPT_ENST00000354289.4_Missense_Mutation_p.D192V|NAMPT_ENST00000484527.1_5'UTR	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	192					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GTAGCCAAAATCATGTAACTT	0.363													A	105909631	T	A	105909631	3	1	364	1	0	0	0	0	1	0	0	0	10225	1435	50	5	928	5	NAMPT	7	105909631	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16151	105909631	53229032	6312	29814											
NAMPT	10135	broad.mit.edu	37	chr7	105925305	105925305	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtggccaggaggatgttgAactcggcttctgccgcagga	7	8	16	10	3	1	1	0	1	1	0	2	4	1	4	2	6	2	3	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:105925305A>G	ENST00000222553.3	-	1	333	c.26T>C	c.(25-27)tTc>tCc	p.F9S	NAMPT_ENST00000354289.4_Missense_Mutation_p.F9S	NM_005746.2	NP_005737.1	P43490	NAMPT_HUMAN	nicotinamide phosphoribosyltransferase	9					cell-cell signaling|NAD biosynthetic process|nicotinamide metabolic process|positive regulation of cell proliferation|positive regulation of nitric-oxide synthase biosynthetic process|signal transduction|water-soluble vitamin metabolic process	cytosol	cytokine activity|nicotinamide phosphoribosyltransferase activity|nicotinate phosphoribosyltransferase activity|nicotinate-nucleotide diphosphorylase (carboxylating) activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GAGGATGTTGAACTCGGCTTC	0.692													G	105925305	A	G	105925305	3	3	364	1	0	0	0	0	1	0	0	0	10225	246	9	3	1493	3	NAMPT	7	105925305	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15674	105925305	53213358	6313	29815											
PIK3CG	5294	broad.mit.edu	37	chr7	106508578	106508578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggcggaggtggccagccGcgaccccaagctctacgcca	8	4	13	16	4	1	0	0	0	1	0	1	2	1	1	5	4	3	1	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106508578G>A	ENST00000359195.3	+	2	882	c.572G>A	c.(571-573)cGc>cAc	p.R191H	PIK3CG_ENST00000496166.1_Missense_Mutation_p.R191H|PIK3CG_ENST00000440650.2_Missense_Mutation_p.R191H	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	191					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						GTGGCCAGCCGCGACCCCAAG	0.607													A	106508578	G	A	106508578	3	1	364	1	0	0	0	0	1	0	0	0	11993	1087	38	1	574	1	PIK3CG	7	106508578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	583273	106508578	52630085	6314	29816											
PIK3CG	5294	broad.mit.edu	37	chr7	106509841	106509841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaacataccaattgttggCcagaagggaagtctgggatc	14	8	11	8	0	1	1	0	0	1	1	2	3	1	3	2	3	2	1	2	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106509841C>T	ENST00000359195.3	+	2	2145	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	PIK3CG_ENST00000496166.1_Missense_Mutation_p.A612V|PIK3CG_ENST00000440650.2_Missense_Mutation_p.A612V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	612					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CAATTGTTGGCCAGAAGGGAA	0.428													T	106509841	C	T	106509841	3	4	364	1	0	0	0	0	1	0	0	0	11993	739	26	2	1837	2	PIK3CG	7	106509841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1263	106509841	52628822	6315	29817											
COG5	10466	broad.mit.edu	37	chr7	106871105	106871105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttcctaaatcagatactCgtctacagaatggacccaca	14	10	5	12	1	2	2	1	0	1	2	4	3	3	3	2	1	2	0	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106871105C>T	ENST00000393603.2	-	19	2487	c.2216G>A	c.(2215-2217)cGa>cAa	p.R739Q	COG5_ENST00000297135.3_Missense_Mutation_p.R739Q|COG5_ENST00000347053.3_Missense_Mutation_p.R718Q	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	718					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding	p.R739L(1)		breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATCAGATACTCGTCTACAGAA	0.388													T	106871105	C	T	106871105	3	4	364	1	0	0	0	0	1	0	0	0	3692	884	31	1	386	1	COG5	7	106871105	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	361264	106871105	52267558	6316	29818											
COG5	10466	broad.mit.edu	37	chr7	106898773	106898773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactactgccacatttcttCtctgtccttcagtaagaggc	8	14	6	13	0	4	1	2	0	2	1	6	1	5	1	2	1	2	1	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:106898773C>A	ENST00000393603.2	-	15	1995	c.1724G>T	c.(1723-1725)aGa>aTa	p.R575I	COG5_ENST00000297135.3_Missense_Mutation_p.R575I|COG5_ENST00000347053.3_Missense_Mutation_p.R575I	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	575					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CACATTTCTTCTCTGTCCTTC	0.328													A	106898773	C	A	106898773	3	1	364	1	0	0	0	0	1	0	0	0	3692	913	32	4	894	4	COG5	7	106898773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27668	106898773	52239890	6317	29819											
COG5	10466	broad.mit.edu	37	chr7	107052970	107052970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctccaaaccctgctctaGtaggcgcttagcttgatttt	8	14	8	11	1	2	1	0	1	2	0	3	1	2	1	2	1	3	4	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107052970G>A	ENST00000393603.2	-	7	1010	c.739C>T	c.(739-741)Cta>Tta	p.L247L	COG5_ENST00000475638.2_5'UTR|COG5_ENST00000297135.3_Silent_p.L247L|COG5_ENST00000347053.3_Silent_p.L247L	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	247					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						CCCTGCTCTAGTAGGCGCTTA	0.338													A	107052970	G	A	107052970	2	1	364	1	0	0	0	0	0	0	0	1	3692	1020	36	2		2	COG5	7	107052970	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154197	107052970	52085693	6318	29820											
GPR22	2845	broad.mit.edu	37	chr7	107114902	107114903	+	Frame_Shift_Ins	INS	-	-	T																															tgtctcaacagcaatcaacgINStttttgctatcactttggac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107114902_107114903insT	ENST00000304402.4	+	3	1740_1741	c.397_398insT	c.(397-399)gttfs	p.V133fs	COG5_ENST00000347053.3_Intron|COG5_ENST00000393603.2_Intron|COG5_ENST00000297135.3_Intron|COG5_ENST00000475638.2_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	133						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						AGCAATCAACGTTTTTGCTATC	0.391													T	107114903	-	T	107114902	7	5	364	1	0	1	1	0	0	0	0	0	6736	1145	40	0	399	0	GPR22	7	107114902	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	61932	107114902	52023761	6319	29821											
SLC26A4	5172	broad.mit.edu	37	chr7	107314714	107314714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaactgtattaaatactaCtatgatagacactgcagcta	15	12	7	7	0	0	2	0	1	0	1	0	3	0	3	0	1	5	3	0	1	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107314714C>A	ENST00000265715.3	+	5	745	c.521C>A	c.(520-522)aCt>aAt	p.T174N		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	174					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						TTAAATACTACTATGATAGAC	0.438									Pendred syndrome				A	107314714	C	A	107314714	3	1	364	1	0	0	0	0	1	0	0	0	14613	565	20	4	535	4	SLC26A4	7	107314714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199812	107314714	51823949	6320	29822											
SLC26A4	5172	broad.mit.edu	37	chr7	107323797	107323797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcctatagaagtaattGtggtaagtagaatatgtagt	14	15	9	3	0	0	2	0	0	0	2	1	2	1	2	1	1	0	4	1	1	10	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107323797G>A	ENST00000265715.3	+	7	1140	c.916G>A	c.(916-918)Gtg>Atg	p.V306M		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	306					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						AGAAGTAATTGTGGTAAGTAG	0.338									Pendred syndrome				A	107323797	G	A	107323797	3	1	364	1	0	0	0	0	1	0	0	0	14613	1377	48	2	938	2	SLC26A4	7	107323797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9083	107323797	51814866	6321	29823											
SLC26A4	5172	broad.mit.edu	37	chr7	107330592	107330592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcattgcctttgggatcagCaacatcttctcaggattctt	8	16	7	10	0	5	0	3	0	3	0	6	2	5	2	1	2	3	1	1	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107330592C>T	ENST00000265715.3	+	10	1397	c.1173C>T	c.(1171-1173)agC>agT	p.S391S		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	391			S -> N (in PDS).		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						TTGGGATCAGCAACATCTTCT	0.473									Pendred syndrome				T	107330592	C	T	107330592	2	4	364	1	0	0	0	0	0	0	0	1	14613	709	25	2		2	SLC26A4	7	107330592	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6795	107330592	51808071	6322	29824											
CBLL1	79872	broad.mit.edu	37	chr7	107395924	107395924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatgaaaaaaagggagataAgatgtgtccagggtaagata	19	7	12	3	0	0	4	0	1	0	3	1	5	1	4	1	2	0	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107395924A>T	ENST00000440859.3	+	5	895	c.428A>T	c.(427-429)aAg>aTg	p.K143M	CBLL1_ENST00000415884.2_Intron|CBLL1_ENST00000222597.2_Missense_Mutation_p.K142M	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						AAGGGAGATAAGATGTGTCCA	0.299													T	107395924	A	T	107395924	3	4	364	1	0	0	0	0	1	0	0	0	2729	72	3	5	446	5	CBLL1	7	107395924	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	65332	107395924	51742739	6323	29825											
CBLL1	79872	broad.mit.edu	37	chr7	107399325	107399325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccctggacatattattgCccagatgccaccttatatga	10	12	6	13	0	0	2	0	1	0	1	1	3	1	3	5	1	2	0	5	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399325C>T	ENST00000440859.3	+	6	1645	c.1178C>T	c.(1177-1179)gCc>gTc	p.A393V	CBLL1_ENST00000222597.2_Missense_Mutation_p.A392V	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						CATATTATTGCCCAGATGCCA	0.532													T	107399325	C	T	107399325	3	4	364	1	0	0	0	0	1	0	0	0	2729	739	26	2	1200	2	CBLL1	7	107399325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3401	107399325	51739338	6324	29826											
CBLL1	79872	broad.mit.edu	37	chr7	107399540	107399540	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccaccaccacctccaCgattgcagggtccgccttct	7	7	10	17	2	1	0	0	0	1	0	3	2	3	0	7	2	1	1	7	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107399540C>T	ENST00000440859.3	+	6	1860	c.1393C>T	c.(1393-1395)Cga>Tga	p.R465*	CBLL1_ENST00000222597.2_Nonsense_Mutation_p.R464*	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase		Pro-rich.				cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						ACCACCTCCACGATTGCAGGG	0.488													T	107399540	C	T	107399540	4	4	364	1	0	0	0	0	0	1	0	0	2729	528	19	1	1415	1	CBLL1	7	107399540	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215	107399540	51739123	6325	29827											
SLC26A3	1811	broad.mit.edu	37	chr7	107415298	107415298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgcgcttgcgtagaattCgaagtggactaaagccaacc	11	10	11	9	3	0	1	0	0	0	1	1	3	0	2	2	1	4	3	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107415298C>T	ENST00000340010.5	-	16	1881	c.1697G>A	c.(1696-1698)cGa>cAa	p.R566Q	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R531Q	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	566	STAS.				excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GCGTAGAATTCGAAGTGGACT	0.398													T	107415298	C	T	107415298	3	4	364	1	0	0	0	0	1	0	0	0	14612	884	31	1	621	1	SLC26A3	7	107415298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15758	107415298	51723365	6326	29828											
SLC26A3	1811	broad.mit.edu	37	chr7	107427951	107427951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgagaatacagagtataGtacctacaattataaaaaca	19	11	6	5	0	0	2	0	1	0	2	0	3	0	2	1	0	4	2	1	0	11	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107427951G>A	ENST00000340010.5	-	7	923	c.739C>T	c.(739-741)Cta>Tta	p.L247L	SLC26A3_ENST00000422236.2_Silent_p.L212L	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	247					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACAGAGTATAGTACCTACAAT	0.323													A	107427951	G	A	107427951	2	1	364	1	0	0	0	0	0	0	0	1	14612	1020	36	2		2	SLC26A3	7	107427951	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12653	107427951	51710712	6327	29829											
LAMB1	3912	broad.mit.edu	37	chr7	107600145	107600145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaacctacgtttgcatcCactggggccaaagccaaaag	13	6	11	11	1	0	0	0	0	0	0	1	2	1	1	4	3	4	2	4	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107600145C>T	ENST00000393561.1	-	17	2705	c.2521G>A	c.(2521-2523)Gga>Aga	p.G841R	LAMB1_ENST00000222399.6_Missense_Mutation_p.G817R|LAMB1_ENST00000393560.1_Missense_Mutation_p.G817R			P07942	LAMB1_HUMAN	laminin, beta 1	817	Laminin EGF-like 7.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGTTTGCATCCACTGGGGCCA	0.532													T	107600145	C	T	107600145	3	4	364	1	0	0	0	0	1	0	0	0	8669	603	21	2	2975	2	LAMB1	7	107600145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	172194	107600145	51538518	6328	29830											
LAMB1	3912	broad.mit.edu	37	chr7	107618547	107618547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaggtaaatcatggtaGaaatccatgcagagttcaca	15	9	8	9	0	2	2	2	0	0	2	4	2	4	2	2	2	1	4	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107618547G>T	ENST00000393561.1	-	7	1201	c.1017C>A	c.(1015-1017)ttC>ttA	p.F339L	LAMB1_ENST00000222399.6_Missense_Mutation_p.F315L|LAMB1_ENST00000393560.1_Missense_Mutation_p.F315L			P07942	LAMB1_HUMAN	laminin, beta 1	315	Laminin EGF-like 2.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATCATGGTAGAAATCCATGC	0.433													T	107618547	G	T	107618547	3	4	364	1	0	0	0	0	1	0	0	0	8669	933	33	4	4519	4	LAMB1	7	107618547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18402	107618547	51520116	6329	29831											
LAMB4	22798	broad.mit.edu	37	chr7	107696370	107696370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgatcacatctctggccGctgacaccctcccggcagcg	7	6	10	18	4	2	1	1	1	1	0	4	2	3	1	3	2	2	2	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107696370G>A	ENST00000388781.3	-	25	3545	c.3462C>T	c.(3460-3462)agC>agT	p.S1154S	LAMB4_ENST00000205386.4_Silent_p.S1154S|LAMB4_ENST00000388780.3_Silent_p.S1154S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1154	Laminin EGF-like 13.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						ATCTCTGGCCGCTGACACCCT	0.527													A	107696370	G	A	107696370	2	1	364	1	0	0	0	0	0	0	0	1	8672	1078	38	1		1	LAMB4	7	107696370	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77823	107696370	51442293	6330	29832											
LAMB4	22798	broad.mit.edu	37	chr7	107707029	107707029	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgtcctttgatccttgAggatggcagtgacatgctgg	8	12	13	8	0	0	3	0	3	0	0	2	4	2	4	2	3	1	2	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107707029A>T	ENST00000388781.3	-	20	2546	c.2463T>A	c.(2461-2463)ccT>ccA	p.P821P	LAMB4_ENST00000205386.4_Silent_p.P821P|LAMB4_ENST00000388780.3_Silent_p.P821P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	821	Laminin EGF-like 7.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTGATCCTTGAGGATGGCAGT	0.537													T	107707029	A	T	107707029	2	4	364	1	0	0	0	0	0	0	0	1	8672	291	11	5		5	LAMB4	7	107707029	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10659	107707029	51431634	6331	29833											
LAMB4	22798	broad.mit.edu	37	chr7	107752304	107752304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctggttcaaaacttaCaatgacattctcaatggtgt	11	15	7	8	0	4	1	2	1	3	0	5	1	4	1	0	2	2	1	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107752304C>T	ENST00000388781.3	-	4	363	c.280G>A	c.(280-282)Gta>Ata	p.V94I	LAMB4_ENST00000418464.1_Missense_Mutation_p.V94I|LAMB4_ENST00000205386.4_Missense_Mutation_p.V94I|LAMB4_ENST00000414450.2_Missense_Mutation_p.V94I|LAMB4_ENST00000388780.3_Missense_Mutation_p.V94I	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	94	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TCAAAACTTACAATGACATTC	0.363													T	107752304	C	T	107752304	3	4	364	1	0	0	0	0	1	0	0	0	8672	478	17	2	5129	2	LAMB4	7	107752304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45275	107752304	51386359	6332	29834											
LAMB4	22798	broad.mit.edu	37	chr7	107763606	107763606	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaagggtcagttgaaattGcattcttttgtcaggagatg	13	13	11	4	0	3	2	2	1	1	1	3	3	3	2	0	2	1	2	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107763606G>A	ENST00000388781.3	-	2	87	c.4C>T	c.(4-6)Caa>Taa	p.Q2*	LAMB4_ENST00000418464.1_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000205386.4_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000414450.2_Nonsense_Mutation_p.Q2*|LAMB4_ENST00000388780.3_Nonsense_Mutation_p.Q2*	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	2					cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						AGTTGAAATTGCATTCTTTTG	0.308													A	107763606	G	A	107763606	4	1	364	1	0	0	0	0	0	1	0	0	8672	1328	46	2	5413	2	LAMB4	7	107763606	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11302	107763606	51375057	6333	29835											
NRCAM	4897	broad.mit.edu	37	chr7	107834511	107834511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtccttcagccacaggaCagtgagggataaggtgtgat	10	10	14	7	0	1	2	1	2	0	0	2	4	2	4	2	3	1	1	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834511C>T	ENST00000379028.3	-	17	2205	c.1735G>A	c.(1735-1737)Gtc>Atc	p.V579I	NRCAM_ENST00000413765.2_Missense_Mutation_p.V560I|NRCAM_ENST00000379022.4_Missense_Mutation_p.V579I|NRCAM_ENST00000351718.4_Missense_Mutation_p.V573I|NRCAM_ENST00000425651.2_Missense_Mutation_p.V579I|NRCAM_ENST00000379024.4_Missense_Mutation_p.V560I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	579	Ig-like 6.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AGCCACAGGACAGTGAGGGAT	0.418													T	107834511	C	T	107834511	3	4	364	1	0	0	0	0	1	0	0	0	10720	478	17	2	2277	2	NRCAM	7	107834511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70905	107834511	51304152	6334	29836											
NRCAM	4897	broad.mit.edu	37	chr7	107834762	107834762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttattccttgcaacaCacgtataagttcctgtactg	11	15	5	10	1	0	0	0	0	0	0	2	0	2	0	2	0	3	4	2	0	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:107834762C>T	ENST00000379028.3	-	16	2044	c.1574G>A	c.(1573-1575)tGt>tAt	p.C525Y	NRCAM_ENST00000413765.2_Missense_Mutation_p.C506Y|NRCAM_ENST00000379022.4_Missense_Mutation_p.C525Y|NRCAM_ENST00000351718.4_Missense_Mutation_p.C519Y|NRCAM_ENST00000425651.2_Missense_Mutation_p.C525Y|NRCAM_ENST00000379024.4_Missense_Mutation_p.C506Y			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	525	Ig-like 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CCTTGCAACACACGTATAAGT	0.353													T	107834762	C	T	107834762	3	4	364	1	0	0	0	0	1	0	0	0	10720	478	17	2	2442	2	NRCAM	7	107834762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251	107834762	51303901	6335	29837											
THAP5	168451	broad.mit.edu	37	chr7	108205181	108205181	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttccaaagattgatgaatActttctgaatttgaagttgt	12	17	8	4	0	1	5	0	4	1	1	2	5	2	5	1	0	1	2	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:108205181A>G	ENST00000415914.3	-	3	795	c.642T>C	c.(640-642)agT>agC	p.S214S	THAP5_ENST00000493722.1_5'UTR|THAP5_ENST00000313516.5_Silent_p.S172S|THAP5_ENST00000438865.1_3'UTR	NM_001130475.1	NP_001123947.1	Q7Z6K1	THAP5_HUMAN	THAP domain containing 5	214					cell cycle|negative regulation of cell cycle	nucleus	DNA binding|metal ion binding|protease binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8						ATTGATGAATACTTTCTGAAT	0.328													G	108205181	A	G	108205181	2	3	364	1	0	0	0	0	0	0	0	1	15947	388	14	3		3	THAP5	7	108205181	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	370419	108205181	50933482	6336	29838											
LRRN3	54674	broad.mit.edu	37	chr7	110763060	110763060	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagattcttctcctacagActaacaatattgcaaaaatt	16	12	3	10	0	2	2	0	0	2	2	3	2	2	2	1	0	3	1	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110763060A>T	ENST00000451085.1	+	4	1278	c.232A>T	c.(232-234)Act>Tct	p.T78S	LRRN3_ENST00000422987.3_Missense_Mutation_p.T78S|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.T78S|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	78						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCTCCTACAGACTAACAATAT	0.353													T	110763060	A	T	110763060	3	4	364	1	0	0	0	0	1	0	0	0	9106	275	10	5	234	5	LRRN3	7	110763060	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2557879	110763060	48375603	6337	29839											
LRRN3	54674	broad.mit.edu	37	chr7	110764050	110764050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattccaaggtcagaatgttCggcaagtgcatttcagggac	12	10	11	8	1	2	1	2	0	0	1	4	2	3	2	1	3	1	3	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764050C>T	ENST00000451085.1	+	4	2268	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	LRRN3_ENST00000422987.3_Missense_Mutation_p.R408W|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.R408W|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	408	LRRCT.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TCAGAATGTTCGGCAAGTGCA	0.438													T	110764050	C	T	110764050	3	4	364	1	0	0	0	0	1	0	0	0	9106	875	31	1	1224	1	LRRN3	7	110764050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	990	110764050	48374613	6338	29840											
LRRN3	54674	broad.mit.edu	37	chr7	110764150	110764150	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagctgggagctatgtttCctttcactgtagagctactg	9	13	11	8	0	1	2	1	0	0	2	2	3	2	3	1	1	4	5	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:110764150C>A	ENST00000451085.1	+	4	2368	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	LRRN3_ENST00000422987.3_Missense_Mutation_p.S441Y|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.S441Y|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_001099660.1	NP_001093130.1	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	441	Ig-like C2-type.					integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		AGCTATGTTTCCTTTCACTGT	0.433													A	110764150	C	A	110764150	3	1	364	1	0	0	0	0	1	0	0	0	9106	855	30	4	1324	4	LRRN3	7	110764150	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100	110764150	48374513	6339	29841											
DOCK4	9732	broad.mit.edu	37	chr7	111382077	111382077	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacatacctgtatccCtaagctcgacttcatcacaa	14	11	4	12	1	2	0	2	0	0	0	4	1	3	0	2	0	3	3	2	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111382077C>A	ENST00000428084.1	-	45	5061	c.4789G>T	c.(4789-4791)Ggg>Tgg	p.G1597W	DOCK4_ENST00000494651.2_Missense_Mutation_p.G471W|DOCK4_ENST00000437633.1_Missense_Mutation_p.G1588W			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1588	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCTGTATCCCTAAGCTCGAC	0.448													A	111382077	C	A	111382077	3	1	364	1	0	0	0	0	1	0	0	0	4728	681	24	4	1174	4	DOCK4	7	111382077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	617927	111382077	47756586	6340	29842											
DOCK4	9732	broad.mit.edu	37	chr7	111484843	111484843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctggaactggaaccgCattgctgagctggatggctg	9	9	13	10	1	0	1	0	1	0	0	1	4	1	4	2	4	4	4	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111484843C>T	ENST00000428084.1	-	25	2984	c.2712G>A	c.(2710-2712)atG>atA	p.M904I	DOCK4_ENST00000437633.1_Missense_Mutation_p.M904I			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	904					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACTGGAACCGCATTGCTGAGC	0.512													T	111484843	C	T	111484843	3	4	364	1	0	0	0	0	1	0	0	0	4728	710	25	2	3300	2	DOCK4	7	111484843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102766	111484843	47653820	6341	29843											
DOCK4	9732	broad.mit.edu	37	chr7	111617249	111617249	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctccagctcctctcccagGttggaacacatgaggctctt	8	10	8	15	0	2	1	0	1	2	0	5	2	4	2	4	3	2	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111617249G>A	ENST00000428084.1	-	8	911	c.639C>T	c.(637-639)aaC>aaT	p.N213N	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Silent_p.N213N			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	213					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				CCTCTCCCAGGTTGGAACACA	0.507													A	111617249	G	A	111617249	2	1	364	1	0	0	0	0	0	0	0	1	4728	1252	44	2		2	DOCK4	7	111617249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132406	111617249	47521414	6342	29844											
ZNF277	11179	broad.mit.edu	37	chr7	111958314	111958314	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtatgttttgcaatgaagaAttccttggaaacaggtttgc	11	15	10	5	0	0	2	0	1	0	1	1	3	1	3	1	2	3	4	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:111958314A>G	ENST00000361822.3	+	5	672	c.543A>G	c.(541-543)gaA>gaG	p.E181E	ZNF277_ENST00000450657.1_Silent_p.E181E	NM_021994.2	NP_068834.2	Q9NRM2	ZN277_HUMAN	zinc finger protein 277	181						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	15						GCAATGAAGAATTCCTTGGAA	0.328													G	111958314	A	G	111958314	2	3	364	1	0	0	0	0	0	0	0	1	17913	98	4	3		3	ZNF277	7	111958314	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	341065	111958314	47180349	6343	29845											
TMEM168	64418	broad.mit.edu	37	chr7	112424426	112424426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaactgtggttagtaaaGtgggccgatgacggacataa	13	10	12	6	2	1	1	1	1	0	0	1	3	1	2	1	3	1	2	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112424426G>A	ENST00000312814.6	-	2	1015	c.455C>T	c.(454-456)aCt>aTt	p.T152I	TMEM168_ENST00000454074.1_Missense_Mutation_p.T152I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						GGTTAGTAAAGTGGGCCGATG	0.408													A	112424426	G	A	112424426	3	1	364	1	0	0	0	0	1	0	0	0	16183	1029	36	2	1654	2	TMEM168	7	112424426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	466112	112424426	46714237	6344	29846											
C7orf60	154743	broad.mit.edu	37	chr7	112461820	112461820	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taacttaaaagtaatatgggGtcttctagctcatagaaagg	15	12	9	5	0	3	1	1	0	2	1	3	1	3	1	0	3	2	2	0	3	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:112461820G>A	ENST00000297145.4	-	5	1362	c.1197C>T	c.(1195-1197)gaC>gaT	p.D399D		NM_152556.2	NP_689769.2	Q1RMZ1	CG060_HUMAN	chromosome 7 open reading frame 60	399										breast(1)|endometrium(2)|lung(7)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	17						GTAATATGGGGTCTTCTAGCT	0.393													A	112461820	G	A	112461820	2	1	364	1	0	0	0	0	0	0	0	1	2431	1252	44	2		2	C7orf60	7	112461820	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37394	112461820	46676843	6345	29847											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519195	113519195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccaactttgtttatgcTgtgggctattatcctgatct	7	18	7	9	0	1	1	0	1	1	0	3	1	3	1	2	1	2	3	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519195T>C	ENST00000284601.3	-	4	2020	c.1952A>G	c.(1951-1953)cAg>cGg	p.Q651R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	651					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTGTTTATGCTGTGGGCTATT	0.353													C	113519195	T	C	113519195	3	2	364	1	0	0	0	0	1	0	0	0	12453	1580	55	3	1420	3	PPP1R3A	7	113519195	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1057375	113519195	45619468	6346	29848											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519733	113519733	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatatttttagctcctcCttcatgttttttattaaggt	8	22	4	7	0	2	0	2	0	0	0	4	0	4	0	2	1	1	2	2	1	5	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519733C>A	ENST00000284601.3	-	4	1482	c.1414G>T	c.(1414-1416)Gga>Tga	p.G472*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	472					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTAGCTCCTCCTTCATGTTTT	0.398													A	113519733	C	A	113519733	4	1	364	1	0	0	0	0	0	1	0	0	12453	690	24	4	1958	4	PPP1R3A	7	113519733	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	538	113519733	45618930	6347	29849											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519835	113519835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggattagcattatcatccaGgacttctttgctgccagtat	9	15	8	9	0	2	0	1	0	1	0	3	2	3	2	2	2	3	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113519835G>T	ENST00000284601.3	-	4	1380	c.1312C>A	c.(1312-1314)Ctg>Atg	p.L438M		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	438					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTATCATCCAGGACTTCTTTG	0.408													T	113519835	G	T	113519835	3	4	364	1	0	0	0	0	1	0	0	0	12453	991	35	4	2060	4	PPP1R3A	7	113519835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102	113519835	45618828	6348	29850											
PPP1R3A	5506	broad.mit.edu	37	chr7	113522168	113522168	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatttcgattactggcttCcaaatcttccttgtcctcat	8	17	4	12	1	2	0	1	0	1	0	6	1	5	0	3	1	2	1	3	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:113522168C>A	ENST00000284601.3	-	3	960	c.892G>T	c.(892-894)Gaa>Taa	p.E298*		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	298					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTACTGGCTTCCAAATCTTCC	0.333													A	113522168	C	A	113522168	4	1	364	1	0	0	0	0	0	1	0	0	12453	864	30	4	2484	4	PPP1R3A	7	113522168	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2333	113522168	45616495	6349	29851											
FOXP2	93986	broad.mit.edu	37	chr7	114302238	114302238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaaggtcacaaaagataaCagggtatgtttgtgatagtt	14	11	12	4	1	1	2	1	1	0	1	1	3	1	2	0	2	1	3	0	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114302238C>T	ENST00000408937.3	+	15	2215	c.1841C>T	c.(1840-1842)aCa>aTa	p.T614I	FOXP2_ENST00000393494.2_Missense_Mutation_p.T589I|FOXP2_ENST00000350908.4_Missense_Mutation_p.T589I|FOXP2_ENST00000393498.2_Missense_Mutation_p.T568I|FOXP2_ENST00000403559.4_Missense_Mutation_p.T606I|FOXP2_ENST00000393491.3_Missense_Mutation_p.T404I|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393489.3_Missense_Mutation_p.T497I	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	589					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CAAAAGATAACAGGGTATGTT	0.413													T	114302238	C	T	114302238	3	4	364	1	0	0	0	0	1	0	0	0	6078	478	17	2	1983	2	FOXP2	7	114302238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	780070	114302238	44836425	6350	29852											
FOXP2	93986	broad.mit.edu	37	chr7	114304486	114304486	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggctgctcacctcagccGcacatgtaagtgtggttaac	8	9	11	13	2	2	0	2	0	0	0	2	0	2	0	3	2	3	5	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:114304486G>A	ENST00000408937.3	+	17	2447	c.2073G>A	c.(2071-2073)ccG>ccA	p.P691P	FOXP2_ENST00000393494.2_Silent_p.P666P|FOXP2_ENST00000350908.4_Silent_p.P666P|FOXP2_ENST00000393498.2_Silent_p.P645P|FOXP2_ENST00000403559.4_Silent_p.P683P|FOXP2_ENST00000393491.3_Silent_p.P481P|FOXP2_ENST00000393500.3_3'UTR|FOXP2_ENST00000393489.3_Silent_p.P574P	NM_001172766.2|NM_014491.3|NM_148898.3	NP_001166237.1|NP_055306.1|NP_683696.2	O15409	FOXP2_HUMAN	forkhead box P2	666					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CACCTCAGCCGCACATGTAAG	0.428													A	114304486	G	A	114304486	2	1	364	1	0	0	0	0	0	0	0	1	6078	1074	38	1		1	FOXP2	7	114304486	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2248	114304486	44834177	6351	29853											
TFEC	22797	broad.mit.edu	37	chr7	115594657	115594657	+	Frame_Shift_Del	DEL	T	T	-																															cactgaggttgtggttgtccTttttttgtctctcttttgct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115594657delT	ENST00000265440.7	-	5	602	c.422delA	c.(421-423)aagfs	p.K141fs	TFEC_ENST00000320239.7_Frame_Shift_Del_p.K112fs|TFEC_ENST00000393485.1_Frame_Shift_Del_p.K112fs|TFEC_ENST00000457268.1_Frame_Shift_Del_p.K74fs|TFEC_ENST00000484212.1_Frame_Shift_Del_p.K231fs	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	141	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity	p.K141fs*42(1)		NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			GTGGTTGTCCTTTTTTTGTCT	0.333													-	115594657	T	-	115594657	7	5	364	1	0	1	0	1	0	0	0	0	15902	1609	56	0	637	0	TFEC	7	115594657	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	1290171	115594657	43544006	6352	29854											
TES	26136	broad.mit.edu	37	chr7	115889304	115889304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttacctatgagtgggctcCtcctgtccagaatcaagcat	10	11	9	11	0	1	2	1	1	0	1	4	2	4	2	4	1	2	3	4	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:115889304C>T	ENST00000358204.4	+	3	559	c.344C>T	c.(343-345)cCt>cTt	p.P115L	AC002066.1_ENST00000446355.2_RNA|TES_ENST00000393481.2_Missense_Mutation_p.P106L|AC073130.3_ENST00000444244.1_RNA|TES_ENST00000485009.1_3'UTR|TES_ENST00000537767.1_Intron	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	115	PET.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			GAGTGGGCTCCTCCTGTCCAG	0.393													T	115889304	C	T	115889304	3	4	364	1	0	0	0	0	1	0	0	0	15865	681	24	2	354	2	TES	7	115889304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294647	115889304	43249359	6353	29855											
MET	4233	broad.mit.edu	37	chr7	116395560	116395560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgactttaagtgagagcaCgatgaatacgtaaggatctt	13	12	10	6	2	1	3	0	3	1	1	1	6	1	4	0	1	2	2	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116395560C>T	ENST00000397752.3	+	6	2053	c.1853C>T	c.(1852-1854)aCg>aTg	p.T618M	MET_ENST00000436117.2_Missense_Mutation_p.T618M|MET_ENST00000318493.6_Missense_Mutation_p.T618M	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	618	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AGTGAGAGCACGATGAATACG	0.363			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				T	116395560	C	T	116395560	3	4	364	1	0	0	0	0	1	0	0	0	9560	536	19	1	1871	1	MET	7	116395560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506256	116395560	42743103	6354	29856											
MET	4233	broad.mit.edu	37	chr7	116418857	116418857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacataggagaagtttcccAatttctgaccgagggaatca	13	10	10	8	1	2	3	1	2	1	1	3	6	3	4	2	2	0	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116418857A>G	ENST00000397752.3	+	17	3568	c.3368A>G	c.(3367-3369)cAa>cGa	p.Q1123R	MET_ENST00000539704.1_5'UTR|MET_ENST00000318493.6_Missense_Mutation_p.Q1141R	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1123	Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GAAGTTTCCCAATTTCTGACC	0.438			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				G	116418857	A	G	116418857	3	3	364	1	0	0	0	0	1	0	0	0	9560	130	5	3	3484	3	MET	7	116418857	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23297	116418857	42719806	6355	29857											
MET	4233	broad.mit.edu	37	chr7	116435789	116435789	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaacacctttgatataacTgtttacttgttgcaagggag	12	14	9	6	0	0	1	0	1	0	0	0	2	0	2	1	1	4	4	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116435789T>C	ENST00000397752.3	+	20	4079	c.3879T>C	c.(3877-3879)acT>acC	p.T1293T	MET_ENST00000539704.1_Silent_p.T163T|MET_ENST00000318493.6_Silent_p.T1311T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1293	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTGATATAACTGTTTACTTGT	0.453			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	116435789	T	C	116435789	2	2	364	1	0	0	0	0	0	0	0	1	9560	1567	55	3		3	MET	7	116435789	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16932	116435789	42702874	6356	29858											
MET	4233	broad.mit.edu	37	chr7	116436105	116436105	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtcgctccgtatccttCtctgttgtcatcagaagata	8	15	8	10	2	3	2	2	0	1	2	7	2	5	2	2	0	0	3	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116436105C>A	ENST00000397752.3	+	21	4300	c.4100C>A	c.(4099-4101)tCt>tAt	p.S1367Y	MET_ENST00000539704.1_Missense_Mutation_p.S237Y|MET_ENST00000318493.6_Missense_Mutation_p.S1385Y	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1367	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CCGTATCCTTCTCTGTTGTCA	0.468			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116436105	C	A	116436105	3	1	364	1	0	0	0	0	1	0	0	0	9560	913	32	4	4232	4	MET	7	116436105	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316	116436105	42702558	6357	29859											
CAPZA2	830	broad.mit.edu	37	chr7	116533072	116533072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttactgcttaataatgAcaatcttctcagggaaggag	12	12	10	7	1	2	1	1	1	2	0	4	3	2	3	0	3	2	2	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116533072A>G	ENST00000361183.3	+	3	267	c.128A>G	c.(127-129)gAc>gGc	p.D43G	CAPZA2_ENST00000490693.1_Missense_Mutation_p.D43G|CAPZA2_ENST00000458284.2_Missense_Mutation_p.D43G	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2						actin cytoskeleton organization|actin filament capping|blood coagulation|cellular component movement|innate immune response|protein complex assembly	cytosol|extracellular region|F-actin capping protein complex	actin binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CTTAATAATGACAATCTTCTC	0.338													G	116533072	A	G	116533072	3	3	364	1	0	0	0	0	1	0	0	0	2667	275	10	3	138	3	CAPZA2	7	116533072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96967	116533072	42605591	6358	29860											
ST7	7982	broad.mit.edu	37	chr7	116862958	116862958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagttcagggactggaattGcaagagtattttcatgcgtg	11	12	13	5	1	2	2	2	0	0	2	2	4	2	4	0	2	2	3	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116862958G>A	ENST00000265437.5	+	16	1896	c.1682G>A	c.(1681-1683)tGc>tAc	p.C561Y	ST7_ENST00000393449.1_Intron|ST7_ENST00000422922.1_Intron|ST7_ENST00000393447.4_Intron|ST7_ENST00000393451.3_Intron|ST7_ENST00000323984.3_Intron|ST7_ENST00000393446.2_Intron|ST7_ENST00000432298.1_Intron|ST7_ENST00000393443.1_Intron|ST7_ENST00000393444.3_Intron	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	561						integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		GACTGGAATTGCAAGAGTATT	0.448													A	116862958	G	A	116862958	3	1	364	1	0	0	0	0	1	0	0	0	15325	1319	46	2	1744	2	ST7	7	116862958	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329886	116862958	42275705	6359	29861											
WNT2	7472	broad.mit.edu	37	chr7	116963006	116963006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagccaggtcaagagcagaGggagccagagccagattcca	13	4	14	10	0	1	5	1	1	0	4	2	6	2	6	4	2	4	1	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:116963006G>T	ENST00000265441.3	-	1	337	c.38C>A	c.(37-39)cCt>cAt	p.P13H		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	13					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CAAGAGCAGAGGGAGCCAGAG	0.622													T	116963006	G	T	116963006	3	4	364	1	0	0	0	0	1	0	0	0	17488	1000	35	4	1064	4	WNT2	7	116963006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100048	116963006	42175657	6360	29862											
CFTR	1080	broad.mit.edu	37	chr7	117254736	117254736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagtacattgcagtgggCtgtaaactccagcatagatg	12	10	11	8	0	0	2	0	1	0	1	1	2	1	2	1	1	4	5	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117254736C>A	ENST00000003084.6	+	21	3569	c.3437C>A	c.(3436-3438)gCt>gAt	p.A1146D	CFTR_ENST00000454343.1_Missense_Mutation_p.A1085D|AC000111.6_ENST00000456270.1_RNA	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1146	ABC transmembrane type-1 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TTGCAGTGGGCTGTAAACTCC	0.353									Cystic Fibrosis				A	117254736	C	A	117254736	3	1	364	1	0	0	0	0	1	0	0	0	3324	797	28	4	3519	4	CFTR	7	117254736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291730	117254736	41883927	6361	29863											
CTTNBP2	83992	broad.mit.edu	37	chr7	117424357	117424357	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagaatggccatcttcacaGgagtaattaatgtccagtcc	12	10	9	10	0	2	1	1	0	1	1	4	2	4	2	3	2	0	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117424357G>T	ENST00000160373.3	-	5	2311	c.2220C>A	c.(2218-2220)tcC>tcA	p.S740S		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	740										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		CATCTTCACAGGAGTAATTAA	0.448													T	117424357	G	T	117424357	2	4	364	1	0	0	0	0	0	0	0	1	4078	987	35	4		4	CTTNBP2	7	117424357	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169621	117424357	41714306	6362	29864											
CTTNBP2	83992	broad.mit.edu	37	chr7	117432640	117432640	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaattcattcgtcttttTcttttcctcttccagtttgg	4	23	4	10	1	5	0	1	0	4	0	8	0	7	0	2	1	0	1	2	1	1	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117432640T>A	ENST00000160373.3	-	4	701	c.610A>T	c.(610-612)Aaa>Taa	p.K204*		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	204										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TTCGTCTTTTTCTTTTCCTCT	0.463													A	117432640	T	A	117432640	4	1	364	1	0	0	0	0	0	1	0	0	4078	1792	62	5	4461	5	CTTNBP2	7	117432640	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8283	117432640	41706023	6363	29865											
ANKRD7	56311	broad.mit.edu	37	chr7	117874815	117874815	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaactttggtgcagacccaGatctgagggatattcgttat	11	13	10	7	1	1	3	0	1	1	2	2	4	1	4	1	2	2	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:117874815G>T	ENST00000357099.4	+	4	588	c.415G>T	c.(415-417)Gat>Tat	p.D139Y	ANKRD7_ENST00000265224.4_Missense_Mutation_p.D119Y|ANKRD7_ENST00000417525.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000433239.1_Missense_Mutation_p.D66Y|ANKRD7_ENST00000477532.1_3'UTR			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	119					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						TGCAGACCCAGATCTGAGGGA	0.368													T	117874815	G	T	117874815	3	4	364	1	0	0	0	0	1	0	0	0	686	942	33	4	365	4	ANKRD7	7	117874815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	442175	117874815	41263848	6364	29866											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650826	121650826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggagagtttattgaccAgtttcaagcttgatactgga	12	12	12	5	0	1	3	1	2	0	1	1	6	1	5	1	3	2	3	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650826A>G	ENST00000393386.2	+	12	2137	c.1726A>G	c.(1726-1728)Agt>Ggt	p.S576G	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.S576G	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	576					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTTATTGACCAGTTTCAAGCT	0.403													G	121650826	A	G	121650826	3	3	364	1	0	0	0	0	1	0	0	0	12902	188	7	3	1772	3	PTPRZ1	7	121650826	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3776011	121650826	37487837	6365	29867											
PTPRZ1	5803	broad.mit.edu	37	chr7	121650943	121650943	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcctccgaaaacccaGagacaataacatatgatgtc	15	11	5	10	1	0	2	0	1	0	1	3	4	2	2	3	0	2	0	3	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121650943G>T	ENST00000393386.2	+	12	2254	c.1843G>T	c.(1843-1845)Gag>Tag	p.E615*	PTPRZ1_ENST00000449182.1_Nonsense_Mutation_p.E615*	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	615					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CGAAAACCCAGAGACAATAAC	0.413													T	121650943	G	T	121650943	4	4	364	1	0	0	0	0	0	1	0	0	12902	943	33	4	1889	4	PTPRZ1	7	121650943	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117	121650943	37487720	6366	29868											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651950	121651950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagttctgcaatacctgtGcatgattctgtgggtgtaac	9	14	10	8	0	2	1	0	1	2	0	2	1	2	1	1	1	5	4	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121651950G>A	ENST00000393386.2	+	12	3261	c.2850G>A	c.(2848-2850)gtG>gtA	p.V950V	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	950					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CAATACCTGTGCATGATTCTG	0.443													A	121651950	G	A	121651950	2	1	364	1	0	0	0	0	0	0	0	1	12902	1306	46	2		2	PTPRZ1	7	121651950	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1007	121651950	37486713	6367	29869											
PTPRZ1	5803	broad.mit.edu	37	chr7	121652220	121652220	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggtgatgataataaggcGctttctaaaagtgaaataat	15	14	9	3	1	1	3	0	3	1	0	1	3	1	3	0	2	0	1	0	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121652220G>A	ENST00000393386.2	+	12	3531	c.3120G>A	c.(3118-3120)gcG>gcA	p.A1040A	PTPRZ1_ENST00000449182.1_Intron|PTPRZ1_ENST00000483028.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1040					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATAATAAGGCGCTTTCTAAAA	0.383													A	121652220	G	A	121652220	2	1	364	1	0	0	0	0	0	0	0	1	12902	1074	38	1		1	PTPRZ1	7	121652220	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270	121652220	37486443	6368	29870											
PTPRZ1	5803	broad.mit.edu	37	chr7	121653746	121653746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacaagtgatgaagaaaGtggatcagggcaaggtacct	14	8	13	6	0	2	4	1	3	1	1	2	5	2	5	1	3	1	2	1	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121653746G>A	ENST00000393386.2	+	12	5057	c.4646G>A	c.(4645-4647)aGt>aAt	p.S1549N	PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1549					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity	p.G1549E(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GATGAAGAAAGTGGATCAGGG	0.433													A	121653746	G	A	121653746	3	1	364	1	0	0	0	0	1	0	0	0	12902	1029	36	2	4692	2	PTPRZ1	7	121653746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1526	121653746	37484917	6369	29871											
PTPRZ1	5803	broad.mit.edu	37	chr7	121698887	121698887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtgaggcactttcagTgtcctaaatggccaaatcca	12	11	9	9	0	1	2	1	2	0	0	3	2	3	2	3	2	0	1	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121698887T>C	ENST00000393386.2	+	28	6973	c.6562T>C	c.(6562-6564)Tgt>Cgt	p.C2188R	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.C1321R	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	2188	Tyrosine-protein phosphatase 2.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						GCACTTTCAGTGTCCTAAATG	0.368													C	121698887	T	C	121698887	3	2	364	1	0	0	0	0	1	0	0	0	12902	1696	59	3	6672	3	PTPRZ1	7	121698887	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45141	121698887	37439776	6370	29872											
FEZF1	389549	broad.mit.edu	37	chr7	121944301	121944301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacgagttgagatgcagaGagtgcttgggttcccccttg	7	11	14	9	2	0	2	0	1	0	2	2	6	1	2	2	1	2	4	2	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:121944301G>T	ENST00000442488.2	-	1	258	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FEZF1_ENST00000427185.2_Missense_Mutation_p.S64Y|FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000331178.4_Missense_Mutation_p.S64Y	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	64					cell differentiation|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S64Y(1)		breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						GAGATGCAGAGAGTGCTTGGG	0.632													T	121944301	G	T	121944301	3	4	364	1	0	0	0	0	1	0	0	0	5874	942	33	4	1252	4	FEZF1	7	121944301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245414	121944301	37194362	6371	29873											
CADPS2	93664	broad.mit.edu	37	chr7	122047655	122047655	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactatcccaggagtcttgCggttgagcctctagtgcagt	9	11	11	10	1	2	1	0	1	2	0	3	2	3	2	2	2	4	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122047655C>T	ENST00000334010.7	-	18	3100	c.2679G>A	c.(2677-2679)ccG>ccA	p.P893P	RP5-1101C3.1_ENST00000591140.1_RNA|RP5-1101C3.1_ENST00000593910.1_RNA|CADPS2_ENST00000412584.2_Silent_p.P889P|CADPS2_ENST00000313070.7_Silent_p.P889P|CADPS2_ENST00000449022.2_Silent_p.P895P	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	895	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						AGGAGTCTTGCGGTTGAGCCT	0.428													T	122047655	C	T	122047655	2	4	364	1	0	0	0	0	0	0	0	1	2597	755	27	1		1	CADPS2	7	122047655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103354	122047655	37091008	6372	29874											
CADPS2	93664	broad.mit.edu	37	chr7	122111440	122111440	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaaatacctgttgccgtgCacatgagaggcacagaatgc	14	8	10	9	1	0	2	0	1	0	2	0	3	0	2	2	1	4	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122111440C>T	ENST00000334010.7	-	13	2599	c.2178G>A	c.(2176-2178)gtG>gtA	p.V726V	CADPS2_ENST00000412584.2_Silent_p.V722V|CADPS2_ENST00000313070.7_Silent_p.V722V|CADPS2_ENST00000449022.2_Silent_p.V725V	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	725					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGTTGCCGTGCACATGAGAGG	0.423													T	122111440	C	T	122111440	2	4	364	1	0	0	0	0	0	0	0	1	2597	697	25	2		2	CADPS2	7	122111440	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63785	122111440	37027223	6373	29875											
RNF148	378925	broad.mit.edu	37	chr7	122342350	122342350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggttgcttatcatcaccGcgactatattttccgtcccc	7	14	6	14	3	3	0	3	0	0	0	5	1	5	0	4	1	1	2	4	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122342350G>A	ENST00000434824.1	-	1	671	c.455C>T	c.(454-456)gCg>gTg	p.A152V	RNF148_ENST00000447240.1_Missense_Mutation_p.A54V|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	152	PA.					integral to membrane	zinc ion binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						TATCATCACCGCGACTATATT	0.463													A	122342350	G	A	122342350	3	1	364	1	0	0	0	0	1	0	0	0	13540	1087	38	1	466	1	RNF148	7	122342350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230910	122342350	36796313	6374	29876											
CADPS2	93664	broad.mit.edu	37	chr7	122526096	122526096	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggctgcttggcgttgAaggggtacgcgatgcacctc	5	9	17	10	4	0	1	0	1	0	0	1	2	0	1	1	5	3	5	1	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122526096A>G	ENST00000334010.7	-	1	717	c.296T>C	c.(295-297)tTc>tCc	p.F99S	CADPS2_ENST00000412584.2_Missense_Mutation_p.F99S|CADPS2_ENST00000313070.7_Missense_Mutation_p.F99S|CADPS2_ENST00000449022.2_Missense_Mutation_p.F99S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	99					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						CTTGGCGTTGAAGGGGTACGC	0.662													G	122526096	A	G	122526096	3	3	364	1	0	0	0	0	1	0	0	0	2597	246	9	3	3758	3	CADPS2	7	122526096	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	183746	122526096	36612567	6375	29877											
SLC13A1	6561	broad.mit.edu	37	chr7	122811844	122811844	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatttacaccaaccaTcatcaccattttcagagcaa	14	10	5	12	0	3	1	3	0	0	1	3	2	3	2	3	1	4	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:122811844T>A	ENST00000194130.2	-	3	382	c.343A>T	c.(343-345)Atg>Ttg	p.M115L	SLC13A1_ENST00000539873.1_Missense_Mutation_p.M51L	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	115						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACACCAACCATCATCACCATT	0.358													A	122811844	T	A	122811844	3	1	364	1	0	0	0	0	1	0	0	0	14485	1435	50	5	1496	5	SLC13A1	7	122811844	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	285748	122811844	36326819	6376	29878											
IQUB	154865	broad.mit.edu	37	chr7	123143079	123143079	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcattgtgatactctacTcctgttactttatgtctgaa	9	16	6	10	0	2	2	0	2	2	0	3	2	3	2	2	0	4	2	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123143079T>C	ENST00000466202.1	-	5	1362	c.786A>G	c.(784-786)ggA>ggG	p.G262G	IQUB_ENST00000324698.6_Silent_p.G262G|IQUB_ENST00000434450.1_Silent_p.G262G|IQUB_ENST00000488987.1_5'UTR	NM_001282855.1	NP_001269784.1	Q8NA54	IQUB_HUMAN	IQ motif and ubiquitin domain containing	262										breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(3)|prostate(2)|stomach(3)|upper_aerodigestive_tract(1)	45						GATACTCTACTCCTGTTACTT	0.383													C	123143079	T	C	123143079	2	2	364	1	0	0	0	0	0	0	0	1	7878	1538	54	3		3	IQUB	7	123143079	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	331235	123143079	35995584	6377	29879											
ASB15	142685	broad.mit.edu	37	chr7	123267271	123267271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaatatggaggaagcGgaaatgtacctaaccgagca	14	7	13	7	2	0	0	0	0	0	0	0	5	0	4	2	4	5	3	2	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123267271G>A	ENST00000451558.1	+	11	1326	c.805G>A	c.(805-807)Gga>Aga	p.G269R	ASB15_ENST00000434204.1_Missense_Mutation_p.G269R|ASB15_ENST00000275699.3_Missense_Mutation_p.G269R|ASB15_ENST00000540573.1_Missense_Mutation_p.G269R|ASB15_ENST00000451215.1_Missense_Mutation_p.G269R			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	269					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						TGGAGGAAGCGGAAATGTACC	0.493													A	123267271	G	A	123267271	3	1	364	1	0	0	0	0	1	0	0	0	1024	1117	39	1	827	1	ASB15	7	123267271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124192	123267271	35871392	6378	29880											
LMOD2	442721	broad.mit.edu	37	chr7	123302331	123302331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaacacagacccttaccCgctttgctgaagccctcaag	11	8	6	16	1	2	2	2	1	0	1	2	2	2	2	3	0	4	2	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123302331C>T	ENST00000458573.2	+	2	848	c.691C>T	c.(691-693)Cgc>Tgc	p.R231C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	231						cytoskeleton	actin binding|tropomyosin binding										GACCCTTACCCGCTTTGCTGA	0.493													T	123302331	C	T	123302331	3	4	364	1	0	0	0	0	1	0	0	0	8918	652	23	1	697	1	LMOD2	7	123302331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35060	123302331	35836332	6379	29881											
WASL	8976	broad.mit.edu	37	chr7	123332603	123332603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggcggtggcccaggaGgaggtggaggtggaggcggt	5	4	26	6	3	0	0	0	0	0	0	0	4	0	4	1	12	0	0	1	12	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332603G>T	ENST00000223023.4	-	9	1477	c.1145C>A	c.(1144-1146)cCt>cAt	p.P382H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	382	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGCCCAGGAGGAGGTGGAGG	0.617													T	123332603	G	T	123332603	3	4	364	1	0	0	0	0	1	0	0	0	17358	1000	35	4	384	4	WASL	7	123332603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30272	123332603	35806060	6380	29882											
WASL	8976	broad.mit.edu	37	chr7	123332912	123332912	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccttgatggtggtggaGgtggtggtgctgaaatgcaa	7	11	16	7	0	0	2	0	2	0	0	1	3	1	3	2	6	2	2	2	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:123332912G>T	ENST00000223023.4	-	9	1168	c.836C>A	c.(835-837)cCt>cAt	p.P279H		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	279	Pro-rich.				actin polymerization or depolymerization|axon guidance|cellular component movement|nitric oxide metabolic process|protein complex assembly|regulation of nitric-oxide synthase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|cytosol|nucleolus|plasma membrane	actin binding|small GTPase regulator activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGTGGTGGAGGTGGTGGTGC	0.473													T	123332912	G	T	123332912	3	4	364	1	0	0	0	0	1	0	0	0	17358	1000	35	4	693	4	WASL	7	123332912	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	309	123332912	35805751	6381	29883											
GPR37	2861	broad.mit.edu	37	chr7	124404176	124404176	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtagtagttgtggcacacGatgcacatcaccgccaggtt	10	10	11	10	2	1	0	1	0	0	0	1	1	1	0	2	2	1	6	2	2	2	4	rs149674781	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404176G>A	ENST00000303921.2	-	1	1505	c.855C>T	c.(853-855)atC>atT	p.I285I		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	285						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGTGGCACACGATGCACATCA	0.572													A	124404176	G	A	124404176	2	1	364	1	0	0	0	0	0	0	0	1	6745	1048	37	1		1	GPR37	7	124404176	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1071264	124404176	34734487	6382	29884											
GPR37	2861	broad.mit.edu	37	chr7	124404931	124404931	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaagtttcgtttctggAcgcaggggcgaccccgaggg	8	7	15	11	4	1	1	0	0	1	1	2	4	1	2	2	4	0	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124404931A>C	ENST00000303921.2	-	1	750	c.100T>G	c.(100-102)Tcc>Gcc	p.S34A		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	34						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCGTTTCTGGACGCAGGGGCG	0.642													C	124404931	A	C	124404931	3	2	364	1	0	0	0	0	1	0	0	0	6745	275	10	5	1749	5	GPR37	7	124404931	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	755	124404931	34733732	6383	29885											
POT1	25913	broad.mit.edu	37	chr7	124493083	124493083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaccctgattccccgaccgTaactggtacctccatgaaga	11	8	8	14	2	0	4	0	2	0	2	2	5	2	4	6	1	2	2	6	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124493083T>C	ENST00000357628.3	-	10	1410	c.812A>G	c.(811-813)tAc>tGc	p.Y271C	POT1_ENST00000393329.1_Missense_Mutation_p.Y140C	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	271	DNA binding.				DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						TCCCCGACCGTAACTGGTACC	0.348													C	124493083	T	C	124493083	3	2	364	1	0	0	0	0	1	0	0	0	12337	1638	57	3	1132	3	POT1	7	124493083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	88152	124493083	34645580	6384	29886											
POT1	25913	broad.mit.edu	37	chr7	124503570	124503570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccattttgtggtcctcaGtagtgaagttaaaatacttg	11	15	8	7	0	1	1	1	1	0	0	2	1	2	1	2	1	2	2	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:124503570G>A	ENST00000357628.3	-	8	978	c.380C>T	c.(379-381)aCt>aTt	p.T127I	POT1_ENST00000393329.1_5'UTR	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	127					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GTGGTCCTCAGTAGTGAAGTT	0.448													A	124503570	G	A	124503570	3	1	364	1	0	0	0	0	1	0	0	0	12337	1029	36	2	1572	2	POT1	7	124503570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10487	124503570	34635093	6385	29887											
GRM8	2918	broad.mit.edu	37	chr7	126173165	126173165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtacaagtgaccatcaagagGatactgtatccaagtgaaca	16	8	9	8	0	1	3	1	2	0	1	2	4	2	4	2	1	3	2	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173165G>T	ENST00000339582.2	-	9	3079	c.2271C>A	c.(2269-2271)atC>atA	p.I757I	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.I757I|GRM8_ENST00000358373.3_Silent_p.I757I			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	757					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CCATCAAGAGGATACTGTATC	0.443										HNSCC(24;0.065)			T	126173165	G	T	126173165	2	4	364	1	0	0	0	0	0	0	0	1	6858	1164	41	4		4	GRM8	7	126173165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1669595	126173165	32965498	6386	29888											
GRM8	2918	broad.mit.edu	37	chr7	126173388	126173388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttgggcgctgtgacaGatttcttcccctgctcaaat	8	13	9	11	1	2	3	1	2	1	1	3	3	3	3	2	1	2	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:126173388G>T	ENST00000339582.2	-	9	2856	c.2048C>A	c.(2047-2049)tCt>tAt	p.S683Y	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Missense_Mutation_p.S683Y|GRM8_ENST00000358373.3_Missense_Mutation_p.S683Y			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	683					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	CGCTGTGACAGATTTCTTCCC	0.502										HNSCC(24;0.065)			T	126173388	G	T	126173388	3	4	364	1	0	0	0	0	1	0	0	0	6858	942	33	4	740	4	GRM8	7	126173388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	223	126173388	32965275	6387	29889											
GCC1	79571	broad.mit.edu	37	chr7	127222701	127222701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggcaccgctccagctcCtgccggtggagctgctgcag	5	7	14	15	2	0	0	0	0	0	0	2	1	2	1	4	3	6	7	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127222701C>A	ENST00000321407.2	-	2	2119	c.1695G>T	c.(1693-1695)caG>caT	p.Q565H		NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	565						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GCTCCAGCTCCTGCCGGTGGA	0.647													A	127222701	C	A	127222701	3	1	364	1	0	0	0	0	1	0	0	0	6339	680	24	4	636	4	GCC1	7	127222701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1049313	127222701	31915962	6388	29890											
GCC1	79571	broad.mit.edu	37	chr7	127224742	127224742	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaactggtcaaagtagcCaactgagtcttcagctggtg	13	9	11	8	0	3	2	2	1	1	1	3	2	3	2	1	2	4	2	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127224742C>T	ENST00000321407.2	-	1	919	c.495G>A	c.(493-495)ttG>ttA	p.L165L	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	165						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						TCAAAGTAGCCAACTGAGTCT	0.522													T	127224742	C	T	127224742	2	4	364	1	0	0	0	0	0	0	0	1	6339	593	21	2		2	GCC1	7	127224742	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2041	127224742	31913921	6389	29891											
GCC1	79571	broad.mit.edu	37	chr7	127225066	127225066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgggataccgacagcacCttgatgctggcctctaatgc	8	10	11	12	2	1	1	0	1	1	0	2	3	1	2	3	2	4	2	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127225066C>A	ENST00000321407.2	-	1	595	c.171G>T	c.(169-171)aaG>aaT	p.K57N	GCC1_ENST00000497650.1_Intron	NM_024523.5	NP_078799.2	Q96CN9	GCC1_HUMAN	GRIP and coiled-coil domain containing 1	57						Golgi membrane|plasma membrane	protein binding			breast(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						CCGACAGCACCTTGATGCTGG	0.567													A	127225066	C	A	127225066	3	1	364	1	0	0	0	0	1	0	0	0	6339	680	24	4	2164	4	GCC1	7	127225066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	324	127225066	31913597	6390	29892											
PAX4	5078	broad.mit.edu	37	chr7	127252041	127252041	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaacccttggtacagtcagCccctgggaagcacctataaa	12	7	9	13	0	1	0	1	0	0	0	1	1	1	1	4	2	4	3	4	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127252041C>T	ENST00000341640.2	-	7	910	c.705G>A	c.(703-705)ggG>ggA	p.G235G	PAX4_ENST00000378740.2_Silent_p.G235G|PAX4_ENST00000338516.3_Intron|PAX4_ENST00000463946.1_Silent_p.G233G	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	243					cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GTACAGTCAGCCCCTGGGAAG	0.557													T	127252041	C	T	127252041	2	4	364	1	0	0	0	0	0	0	0	1	11557	726	26	2		2	PAX4	7	127252041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26975	127252041	31886622	6391	29893											
PAX4	5078	broad.mit.edu	37	chr7	127255455	127255455	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggtgctggcccattacCttaaggatccgtgagatgtc	10	11	11	9	1	0	1	0	1	0	1	2	3	1	2	3	3	2	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127255455C>A	ENST00000463946.1	-	0	269				PAX4_ENST00000378740.2_Splice_Site_p.K40N|PAX4_ENST00000341640.2_Splice_Site_p.K40N|PAX4_ENST00000338516.3_Splice_Site_p.K48N			O43316	PAX4_HUMAN	paired box 4						cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCCCATTACCTTAAGGATCC	0.592													A	127255455	C	A	127255455	1	1	364	1	0	0	0	0	0	0	0	0	11557	695	24	4		4	PAX4	7	127255455	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3414	127255455	31883208	6392	29894											
SND1	27044	broad.mit.edu	37	chr7	127326801	127326801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacacaacctgatgcaaaGgatacccctgatgaggtagg	13	6	11	11	0	0	3	0	3	0	0	0	4	0	4	4	3	3	2	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127326801G>T	ENST00000354725.3	+	2	407	c.213G>T	c.(211-213)aaG>aaT	p.K71N		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	71	TNase-like 1.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTGATGCAAAGGATACCCCTG	0.557													T	127326801	G	T	127326801	3	4	364	1	0	0	0	0	1	0	0	0	14938	991	35	4	219	4	SND1	7	127326801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71346	127326801	31811862	6393	29895											
SND1	27044	broad.mit.edu	37	chr7	127342560	127342560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattactacctggttacaGtcatgctgtcaggcatcaag	11	11	9	10	0	3	1	3	0	0	1	3	1	3	1	1	2	4	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127342560G>T	ENST00000354725.3	+	6	855	c.661G>T	c.(661-663)Gtc>Ttc	p.V221F		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	221	TNase-like 2.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CCTGGTTACAGTCATGCTGTC	0.512													T	127342560	G	T	127342560	3	4	364	1	0	0	0	0	1	0	0	0	14938	1029	36	4	683	4	SND1	7	127342560	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15759	127342560	31796103	6394	29896											
SND1	27044	broad.mit.edu	37	chr7	127569379	127569379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttatcaccttcttgcttGcaggtaagtcttatgtgtta	7	17	8	9	0	3	0	1	0	2	0	3	0	3	0	2	1	2	4	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127569379G>A	ENST00000354725.3	+	15	1860	c.1666G>A	c.(1666-1668)Gca>Aca	p.A556T		NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	556	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						CTTCTTGCTTGCAGGTAAGTC	0.483													A	127569379	G	A	127569379	3	1	364	1	0	0	0	0	1	0	0	0	14938	1319	46	2	1724	2	SND1	7	127569379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	226819	127569379	31569284	6395	29897											
RBM28	55131	broad.mit.edu	37	chr7	127965879	127965879	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttccttacctcattctCtggagaagcagctagaaggc	10	12	8	11	0	3	2	1	0	2	2	5	3	4	2	2	2	3	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:127965879C>A	ENST00000223073.2	-	11	1309	c.1195G>T	c.(1195-1197)Gag>Tag	p.E399*	RBM28_ENST00000415472.2_Nonsense_Mutation_p.E258*	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						ACCTCATTCTCTGGAGAAGCA	0.413													A	127965879	C	A	127965879	4	1	364	1	0	0	0	0	0	1	0	0	13216	922	32	4	1120	4	RBM28	7	127965879	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	396500	127965879	31172784	6396	29898											
IMPDH1	3614	broad.mit.edu	37	chr7	128038586	128038586	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaatccttggaggccagaGggtagtctcggttcttcttc	6	12	14	9	1	3	1	0	0	3	1	6	3	4	3	2	5	0	2	2	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128038586G>T	ENST00000338791.6	-	10	1306	c.956C>A	c.(955-957)cCt>cAt	p.P319H	IMPDH1_ENST00000470772.1_Missense_Mutation_p.P233H|IMPDH1_ENST00000343214.4_Missense_Mutation_p.P209H|IMPDH1_ENST00000348127.6_Missense_Mutation_p.P283H|IMPDH1_ENST00000354269.5_Missense_Mutation_p.P309H|IMPDH1_ENST00000496200.1_Missense_Mutation_p.P209H|IMPDH1_ENST00000378717.4_Missense_Mutation_p.P250H|IMPDH1_ENST00000480861.1_Missense_Mutation_p.P229H|IMPDH1_ENST00000419067.2_Missense_Mutation_p.P286H	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	234					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	GGAGGCCAGAGGGTAGTCTCG	0.602											OREG0018292	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128038586	G	T	128038586	3	4	364	1	0	0	0	0	1	0	0	0	7784	1000	35	4	875	4	IMPDH1	7	128038586	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72707	128038586	31100077	6397	29899											
IMPDH1	3614	broad.mit.edu	37	chr7	128040230	128040230	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagttcaatccttggcgTcatcacctgtggggccagga	8	9	11	13	1	3	0	3	0	0	0	4	1	4	1	4	4	0	1	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128040230T>C	ENST00000338791.6	-	9	1143	c.793A>G	c.(793-795)Acg>Gcg	p.T265A	IMPDH1_ENST00000470772.1_Missense_Mutation_p.T179A|IMPDH1_ENST00000343214.4_Missense_Mutation_p.T155A|IMPDH1_ENST00000348127.6_Missense_Mutation_p.T229A|IMPDH1_ENST00000354269.5_Missense_Mutation_p.T255A|IMPDH1_ENST00000496200.1_Missense_Mutation_p.T155A|IMPDH1_ENST00000378717.4_Missense_Mutation_p.T196A|IMPDH1_ENST00000480861.1_Missense_Mutation_p.T175A|IMPDH1_ENST00000419067.2_Missense_Mutation_p.T232A	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	180					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	ATCCTTGGCGTCATCACCTGT	0.572													C	128040230	T	C	128040230	3	2	364	1	0	0	0	0	1	0	0	0	7784	1667	58	3	1042	3	IMPDH1	7	128040230	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1644	128040230	31098433	6398	29900											
IMPDH1	3614	broad.mit.edu	37	chr7	128049358	128049358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctagccctgcgaaggCgatccatctggacaccaaca	11	6	8	16	2	2	0	1	0	1	0	3	3	3	1	4	2	3	0	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128049358C>T	ENST00000338791.6	-	3	589	c.239G>A	c.(238-240)cGc>cAc	p.R80H	IMPDH1_ENST00000343214.4_Intron|IMPDH1_ENST00000348127.6_Intron|IMPDH1_ENST00000354269.5_Missense_Mutation_p.R70H|IMPDH1_ENST00000378717.4_Intron|IMPDH1_ENST00000419067.2_Missense_Mutation_p.R80H	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	0					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CCTGCGAAGGCGATCCATCTG	0.562													T	128049358	C	T	128049358	3	4	364	1	0	0	0	0	1	0	0	0	7784	768	27	1	1620	1	IMPDH1	7	128049358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9128	128049358	31089305	6399	29901											
METTL2B	55798	broad.mit.edu	37	chr7	128119311	128119311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctttttaccgaattccCtgagctggcacctagccaaa	9	12	8	12	1	0	1	0	1	0	0	1	2	1	1	4	2	3	3	4	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119311C>A	ENST00000480046.1	+	2	222	c.107C>A	c.(106-108)cCt>cAt	p.P36H	RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Missense_Mutation_p.P101H			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	101							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						ACCGAATTCCCTGAGCTGGCA	0.393													A	128119311	C	A	128119311	3	1	364	1	0	0	0	0	1	0	0	0	9575	681	24	4	312	4	METTL2B	7	128119311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69953	128119311	31019352	6400	29902											
METTL2B	55798	broad.mit.edu	37	chr7	128119556	128119556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctcagccacctacCgaatactggaggtaaccttt	10	10	8	13	1	1	0	1	0	0	0	2	3	2	2	5	3	4	1	5	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128119556C>T	ENST00000480046.1	+	2	467	c.352C>T	c.(352-354)Cga>Tga	p.R118*	METTL2B_ENST00000473488.1_3'UTR|RP11-212P7.3_ENST00000462662.1_RNA|METTL2B_ENST00000262432.8_Nonsense_Mutation_p.R183*			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	183							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						AGCCACCTACCGAATACTGGA	0.408													T	128119556	C	T	128119556	4	4	364	1	0	0	0	0	0	1	0	0	9575	644	23	1	557	1	METTL2B	7	128119556	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245	128119556	31019107	6401	29903											
METTL2B	55798	broad.mit.edu	37	chr7	128141876	128141876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagaatctggtggaccGccgactgcaggtgaaccgag	10	7	14	10	3	2	2	1	1	1	1	2	5	2	3	3	3	2	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128141876G>A	ENST00000480046.1	+	8	963	c.848G>A	c.(847-849)cGc>cAc	p.R283H	METTL2B_ENST00000262432.8_Missense_Mutation_p.R348H			Q6P1Q9	MTL2B_HUMAN	methyltransferase like 2B	348							methyltransferase activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CTGGTGGACCGCCGACTGCAG	0.493													A	128141876	G	A	128141876	3	1	364	1	0	0	0	0	1	0	0	0	9575	1087	38	1	1077	1	METTL2B	7	128141876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22320	128141876	30996787	6402	29904											
CALU	813	broad.mit.edu	37	chr7	128394464	128394464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcaatgaggacggcctcGtttcctgggaggagtataaa	11	9	12	9	2	1	1	1	1	0	0	3	4	2	4	3	4	0	2	3	4	4	3	rs147388270		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128394464G>A	ENST00000535623.1	+	4	1337	c.394G>A	c.(394-396)Gtt>Att	p.V132I	CALU_ENST00000535011.2_Missense_Mutation_p.V124I|CALU_ENST00000479257.1_Missense_Mutation_p.V132I|CALU_ENST00000449187.2_Intron|CALU_ENST00000542996.2_Intron|CALU_ENST00000538546.1_Intron|CALU_ENST00000249364.4_Missense_Mutation_p.V124I	NM_001199671.1	NP_001186600.1	O43852	CALU_HUMAN	calumenin	124	EF-hand 2.				platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						GGACGGCCTCGTTTCCTGGGA	0.502													A	128394464	G	A	128394464	3	1	364	1	0	0	0	0	1	0	0	0	2620	1145	40	1	376	1	CALU	7	128394464	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252588	128394464	30744199	6403	29905											
CALU	813	broad.mit.edu	37	chr7	128409143	128409143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcttaccaaggaggagatCgttgacaagtatgacttatt	14	11	10	6	1	0	3	0	2	0	1	1	5	0	4	1	2	2	3	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128409143C>T	ENST00000535011.2	+	6	822	c.670C>T	c.(670-672)Cgt>Tgt	p.R224C	CALU_ENST00000479257.1_Silent_p.I298I|CALU_ENST00000449187.2_Silent_p.I290I|CALU_ENST00000542996.2_Silent_p.I298I|CALU_ENST00000535623.1_3'UTR|CALU_ENST00000538546.1_Silent_p.I139I|CALU_ENST00000249364.4_Silent_p.I290I	NM_001199673.1	NP_001186602.1	O43852	CALU_HUMAN	calumenin	0					platelet activation|platelet degranulation	extracellular region|Golgi apparatus|melanosome|sarcoplasmic reticulum lumen	calcium ion binding|protein binding			kidney(2)|large_intestine(3)|lung(5)	10						AGGAGGAGATCGTTGACAAGT	0.423													T	128409143	C	T	128409143	3	4	364	1	0	0	0	0	1	0	0	0	2620	874	31	1	1090	1	CALU	7	128409143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14679	128409143	30729520	6404	29906											
OPN1SW	611	broad.mit.edu	37	chr7	128413872	128413872	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaaggatcctaccatcAcaaccaccatgcggctcacc	13	5	6	17	1	2	1	2	0	0	1	3	2	3	2	5	2	3	1	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128413872A>G	ENST00000249389.2	-	4	757	c.758T>C	c.(757-759)gTg>gCg	p.V253A		NM_001708.2	NP_001699.1	P03999	OPSB_HUMAN	opsin 1 (cone pigments), short-wave-sensitive	253					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|stomach(1)	19						TCCTACCATCACAACCACCAT	0.577													G	128413872	A	G	128413872	3	3	364	1	0	0	0	0	1	0	0	0	10956	159	6	3	296	3	OPN1SW	7	128413872	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4729	128413872	30724791	6405	29907											
CCDC136	64753	broad.mit.edu	37	chr7	128441482	128441482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattatgagatggagatcGcctccctccgtgcagaaatg	11	9	12	9	2	0	4	0	1	0	4	3	7	2	4	3	1	1	1	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128441482G>A	ENST00000297788.4	+	4	956	c.589G>A	c.(589-591)Gcc>Acc	p.A197T	CCDC136_ENST00000487361.1_Missense_Mutation_p.A197T|CCDC136_ENST00000464832.1_Missense_Mutation_p.A247T|CCDC136_ENST00000378685.4_Missense_Mutation_p.A247T	NM_022742.4	NP_073579	Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	197	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GATGGAGATCGCCTCCCTCCG	0.488													A	128441482	G	A	128441482	3	1	364	1	0	0	0	0	1	0	0	0	2796	1087	38	1	603	1	CCDC136	7	128441482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27610	128441482	30697181	6406	29908											
FLNC	2318	broad.mit.edu	37	chr7	128470777	128470777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacggagaaggacctggCggaggacgcgccgtggaaga	10	3	18	10	5	0	2	0	0	0	2	1	7	1	6	3	6	0	0	3	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128470777C>T	ENST00000325888.8	+	1	347	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FLNC_ENST00000346177.6_Missense_Mutation_p.A29V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	29	Actin-binding.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AAGGACCTGGCGGAGGACGCG	0.647													T	128470777	C	T	128470777	3	4	364	1	0	0	0	0	1	0	0	0	5984	768	27	1	88	1	FLNC	7	128470777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29295	128470777	30667886	6407	29909											
FLNC	2318	broad.mit.edu	37	chr7	128488685	128488685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcggcccaggcctcaacGcctctggcatccctgccagc	6	5	10	20	2	2	0	1	0	1	0	3	0	3	0	6	3	4	1	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128488685G>A	ENST00000325888.8	+	27	4912	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	FLNC_ENST00000346177.6_Missense_Mutation_p.A1551T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1551					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGGCCTCAACGCCTCTGGCAT	0.622													A	128488685	G	A	128488685	3	1	364	1	0	0	0	0	1	0	0	0	5984	1087	38	1	4757	1	FLNC	7	128488685	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17908	128488685	30649978	6408	29910											
FLNC	2318	broad.mit.edu	37	chr7	128496579	128496579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggcctttgcaggagacggGgctcaaggtgaaccagccag	9	6	16	10	1	1	2	1	1	0	1	1	3	1	2	3	5	3	2	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128496579G>T	ENST00000325888.8	+	44	7520	c.7259G>T	c.(7258-7260)gGg>gTg	p.G2420V	FLNC_ENST00000346177.6_Missense_Mutation_p.G2387V|RP11-309L24.2_ENST00000469965.1_RNA	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2420	Interaction with INPPL1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAGGAGACGGGGCTCAAGGTG	0.657													T	128496579	G	T	128496579	3	4	364	1	0	0	0	0	1	0	0	0	5984	1232	43	4	7433	4	FLNC	7	128496579	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7894	128496579	30642084	6409	29911											
IRF5	3663	broad.mit.edu	37	chr7	128588072	128588072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccgcctgtgtcagtgcaaGgtgttctggagcgggccttg	5	11	15	10	2	2	0	1	0	1	0	3	1	3	1	3	3	2	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128588072G>T	ENST00000402030.2	+	7	1101	c.1029G>T	c.(1027-1029)aaG>aaT	p.K343N	IRF5_ENST00000477535.1_Missense_Mutation_p.K257N|IRF5_ENST00000473745.1_Missense_Mutation_p.K343N|IRF5_ENST00000249375.4_Missense_Mutation_p.K343N|IRF5_ENST00000357234.5_Missense_Mutation_p.K359N	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	343					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						GTCAGTGCAAGGTGTTCTGGA	0.592													T	128588072	G	T	128588072	3	4	364	1	0	0	0	0	1	0	0	0	7891	991	35	4	1099	4	IRF5	7	128588072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91493	128588072	30550591	6410	29912											
TNPO3	23534	broad.mit.edu	37	chr7	128641137	128641137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctaaatcttcacgtgccacgGccatatgataggcagtctcc	10	10	8	13	2	3	1	1	1	2	0	4	1	3	1	3	2	1	1	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641137G>A	ENST00000393245.1	-	6	1221	c.848C>T	c.(847-849)gCc>gTc	p.A283V	TNPO3_ENST00000265388.5_Missense_Mutation_p.A283V|TNPO3_ENST00000471166.1_Missense_Mutation_p.A283V|TNPO3_ENST00000471234.1_Missense_Mutation_p.A283V|TNPO3_ENST00000482320.1_Missense_Mutation_p.A217V	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	283					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ACGTGCCACGGCCATATGATA	0.428													A	128641137	G	A	128641137	3	1	364	1	0	0	0	0	1	0	0	0	16437	1203	42	2	1991	2	TNPO3	7	128641137	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53065	128641137	30497526	6411	29913											
TNPO3	23534	broad.mit.edu	37	chr7	128641247	128641247	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgagcatacacagtcCgaagcagcttcatgtaggtt	12	9	11	9	1	1	2	1	1	0	1	2	3	2	2	1	1	5	6	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128641247C>T	ENST00000393245.1	-	6	1111	c.738G>A	c.(736-738)tcG>tcA	p.S246S	TNPO3_ENST00000265388.5_Silent_p.S246S|TNPO3_ENST00000471166.1_Silent_p.S246S|TNPO3_ENST00000471234.1_Silent_p.S246S|TNPO3_ENST00000482320.1_Silent_p.S180S	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	246					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						ATACACAGTCCGAAGCAGCTT	0.473													T	128641247	C	T	128641247	2	4	364	1	0	0	0	0	0	0	0	1	16437	639	23	1		1	TNPO3	7	128641247	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	128641247	30497416	6412	29914											
SMO	6608	broad.mit.edu	37	chr7	128845485	128845485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggcggaactcgaatcGctaccctgctgttattctct	7	13	9	12	3	1	1	0	1	1	0	4	3	1	2	1	2	3	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128845485G>A	ENST00000249373.3	+	4	1062	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	261					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AACTCGAATCGCTACCCTGCT	0.537			Mis		skin basal cell								A	128845485	G	A	128845485	3	1	364	1	0	0	0	0	1	0	0	0	14894	1087	38	1	796	1	SMO	7	128845485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204238	128845485	30293178	6413	29915											
SMO	6608	broad.mit.edu	37	chr7	128846053	128846053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtactacgccctgatggctgGtgtggtttggtttgtggtcc	3	15	15	8	1	0	1	0	1	0	0	1	1	1	1	2	5	2	4	2	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:128846053G>A	ENST00000249373.3	+	5	1263	c.983G>A	c.(982-984)gGt>gAt	p.G328D		NM_005631.4	NP_005622.1	Q99835	SMO_HUMAN	smoothened, frizzled family receptor	328					adenohypophysis development|axon extension involved in axon guidance|canonical Wnt receptor signaling pathway|cardioblast differentiation|central nervous system neuron differentiation|cerebellar cortex morphogenesis|ciliary receptor clustering involved in smoothened signaling pathway|determination of left/right symmetry|dorsal/ventral neural tube patterning|embryonic camera-type eye development|embryonic digestive tract morphogenesis|embryonic neurocranium morphogenesis|embryonic viscerocranium morphogenesis|exocrine pancreas development|facial nerve development|floor plate formation|gonad development|heart morphogenesis|muscle cell fate commitment|negative regulation of apoptosis|neural crest cell migration|neuron fate commitment|neuron projection regeneration|odontogenesis of dentine-containing tooth|osteoblast differentiation|otolith morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of neuroblast proliferation|positive regulation of smoothened signaling pathway|semicircular canal morphogenesis|smoothened signaling pathway involved in regulation of cerebellar granule cell precursor cell proliferation|smoothened signaling pathway involved in ventral spinal cord patterning|spermatogenesis|vasculogenesis	cilium|cytoplasm|integral to membrane|neuronal cell body|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			biliary_tract(1)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(14)|liver(1)|lung(11)|pancreas(2)|prostate(1)|skin(20)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTGATGGCTGGTGTGGTTTGG	0.557			Mis		skin basal cell								A	128846053	G	A	128846053	3	1	364	1	0	0	0	0	1	0	0	0	14894	1261	44	2	1001	2	SMO	7	128846053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	568	128846053	30292610	6414	29916											
NRF1	4899	broad.mit.edu	37	chr7	129357079	129357079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaacaaaattgggccacGttacagggaggtgagatgac	13	7	15	6	1	0	2	0	2	0	1	0	5	0	4	1	4	2	1	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129357079G>A	ENST00000393232.1	+	9	1203	c.1086G>A	c.(1084-1086)acG>acA	p.T362T	NRF1_ENST00000393231.3_Silent_p.T362T|NRF1_ENST00000393230.2_Silent_p.T362T|NRF1_ENST00000311967.2_Silent_p.T362T|NRF1_ENST00000539636.1_Silent_p.T201T|NRF1_ENST00000353868.4_Silent_p.T296T|NRF1_ENST00000223190.4_Silent_p.T362T	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	362	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATTGGGCCACGTTACAGGGAG	0.473													A	129357079	G	A	129357079	2	1	364	1	0	0	0	0	0	0	0	1	10722	1132	40	1		1	NRF1	7	129357079	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	511026	129357079	29781584	6415	29917											
UBE2H	7328	broad.mit.edu	37	chr7	129474840	129474840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagagctctccgatgagctGtccccggtaccctcttcctg	6	11	9	15	2	2	2	0	1	2	1	5	3	4	2	5	1	3	3	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129474840G>A	ENST00000355621.3	-	7	882	c.489C>T	c.(487-489)gaC>gaT	p.D163D	UBE2H_ENST00000473814.2_Silent_p.D132D	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	163					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCGATGAGCTGTCCCCGGTAC	0.498													A	129474840	G	A	129474840	2	1	364	1	0	0	0	0	0	0	0	1	16960	1368	48	2		2	UBE2H	7	129474840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117761	129474840	29663823	6416	29918											
TMEM209	84928	broad.mit.edu	37	chr7	129841754	129841754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagaaccactgccacctgagGacagaccttgcagctgaggg	12	5	12	12	0	0	4	0	2	0	2	0	5	0	5	4	2	4	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129841754G>A	ENST00000397622.2	-	5	631	c.509C>T	c.(508-510)tCc>tTc	p.S170F	TMEM209_ENST00000473456.1_Missense_Mutation_p.S170F|TMEM209_ENST00000336804.8_Missense_Mutation_p.S169F|TMEM209_ENST00000462753.1_Missense_Mutation_p.S169F|RP11-775D22.3_ENST00000483283.1_RNA	NM_032842.3	NP_116231.2	Q96SK2	TM209_HUMAN	transmembrane protein 209	170	Ser-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	12	Melanoma(18;0.0435)					GCCACCTGAGGACAGACCTTG	0.493													A	129841754	G	A	129841754	3	1	364	1	0	0	0	0	1	0	0	0	16234	1174	41	2	1220	2	TMEM209	7	129841754	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366914	129841754	29296909	6417	29919											
CPA2	1358	broad.mit.edu	37	chr7	129909568	129909568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccacgtccgagttcccttCgtcaacgtccaggcagtcaa	8	8	9	16	4	2	0	2	0	0	0	6	1	5	0	4	1	1	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129909568C>T	ENST00000222481.4	+	3	268	c.213C>T	c.(211-213)ttC>ttT	p.F71F		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	71					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					GAGTTCCCTTCGTCAACGTCC	0.502													T	129909568	C	T	129909568	2	4	364	1	0	0	0	0	0	0	0	1	3821	883	31	1		1	CPA2	7	129909568	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67814	129909568	29229095	6418	29920											
CPA2	1358	broad.mit.edu	37	chr7	129915044	129915044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgctgggatccatgctcGagagtgggttacacaagcta	10	9	14	8	1	0	1	0	0	0	1	2	4	1	3	1	3	4	4	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:129915044G>A	ENST00000222481.4	+	6	597	c.542G>A	c.(541-543)cGa>cAa	p.R181Q		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	181	Substrate binding (By similarity).				proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					ATCCATGCTCGAGAGTGGGTT	0.517													A	129915044	G	A	129915044	3	1	364	1	0	0	0	0	1	0	0	0	3821	1058	37	1	564	1	CPA2	7	129915044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5476	129915044	29223619	6419	29921											
CPA5	93979	broad.mit.edu	37	chr7	130007766	130007766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacgatcttgccaaggatgCggtggaggccttgtataagg	9	10	15	7	2	1	0	0	0	1	0	1	3	1	2	2	5	3	2	2	5	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130007766C>T	ENST00000485477.1	+	11	2187	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	CPA5_ENST00000474905.1_Missense_Mutation_p.A353V|CPA5_ENST00000466363.2_Missense_Mutation_p.A353V|CPA5_ENST00000461828.1_Missense_Mutation_p.A353V|CPA5_ENST00000431780.2_Intron|CPA5_ENST00000393213.3_Missense_Mutation_p.A353V|CPA5_ENST00000355388.3_Missense_Mutation_p.A353V			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	353					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					GCCAAGGATGCGGTGGAGGCC	0.602													T	130007766	C	T	130007766	3	4	364	1	0	0	0	0	1	0	0	0	3824	768	27	1	1096	1	CPA5	7	130007766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92722	130007766	29130897	6420	29922											
CPA1	1357	broad.mit.edu	37	chr7	130020367	130020367	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcccggcagcagcatgcgGgggttgctggtgttgagtgt	4	10	17	10	2	0	1	0	1	0	0	1	1	1	1	2	4	4	6	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130020367G>A	ENST00000011292.3	+	1	156	c.6G>A	c.(4-6)cgG>cgA	p.R2R		NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	2					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					GCAGCATGCGGGGGTTGCTGG	0.632													A	130020367	G	A	130020367	2	1	364	1	0	0	0	0	0	0	0	1	3820	1219	43	2		2	CPA1	7	130020367	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12601	130020367	29118296	6421	29923											
CPA1	1357	broad.mit.edu	37	chr7	130023239	130023240	+	Frame_Shift_Ins	INS	-	-	G																															cctcctctccagttcagcacINSggggggcagtaagcgtccag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130023239_130023240insG	ENST00000011292.3	+	5	641_642	c.491_492insG	c.(490-495)acggggfs	p.TG164fs	CPA1_ENST00000484324.1_Frame_Shift_Ins_p.TG76fs	NM_001868.2	NP_001859.1	P15085	CBPA1_HUMAN	carboxypeptidase A1 (pancreatic)	164					proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(18;0.0435)					CAGTTCAGCACGGGGGGCAGTA	0.614													G	130023240	-	G	130023239	7	5	364	1	0	1	1	0	0	0	0	0	3820	536	19	0	509	0	CPA1	7	130023239	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	2872	130023239	29115424	6422	29924											
TSGA13	114960	broad.mit.edu	37	chr7	130364093	130364093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgttggtcataatcagtAacgtcttatcctggtcatac	9	15	9	8	1	4	0	3	0	1	0	5	0	5	0	1	3	2	3	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:130364093A>G	ENST00000456951.1	-	6	1138	c.287T>C	c.(286-288)tTa>tCa	p.L96S	TSGA13_ENST00000356588.3_Missense_Mutation_p.L96S			Q96PP4	TSG13_HUMAN	testis specific, 13	96										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CATAATCAGTAACGTCTTATC	0.443													G	130364093	A	G	130364093	3	3	364	1	0	0	0	0	1	0	0	0	16720	372	13	3	556	3	TSGA13	7	130364093	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	340854	130364093	28774570	6423	29925											
MKLN1	4289	broad.mit.edu	37	chr7	131073706	131073706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataaaattgatgaacagatGttcccttgtcgattcattaa	14	14	6	7	1	1	3	1	2	0	1	3	4	2	3	1	0	1	1	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131073706G>A	ENST00000352689.6	+	4	415	c.375G>A	c.(373-375)atG>atA	p.M125I	MKLN1_ENST00000421797.2_Missense_Mutation_p.M33I|MKLN1_ENST00000429546.1_Missense_Mutation_p.M33I	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	125					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					ATGAACAGATGTTCCCTTGTC	0.313													A	131073706	G	A	131073706	3	1	364	1	0	0	0	0	1	0	0	0	9678	1377	48	2	422	2	MKLN1	7	131073706	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	709613	131073706	28064957	6424	29926											
PODXL	5420	broad.mit.edu	37	chr7	131196042	131196042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggtgagtcactggatacaCcaagggtggtcgccttgacc	8	8	13	12	2	1	2	1	2	0	0	2	3	1	3	4	4	1	0	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131196042C>T	ENST00000541194.1	-	2	514	c.257G>A	c.(256-258)gGt>gAt	p.G86D	PODXL_ENST00000465001.1_5'UTR|PODXL_ENST00000537928.1_Missense_Mutation_p.G84D|PODXL_ENST00000322985.9_Missense_Mutation_p.G84D|PODXL_ENST00000378555.3_Missense_Mutation_p.G84D	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	84	Thr-rich.				cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGGATACACCAAGGGTGGT	0.582													T	131196042	C	T	131196042	3	4	364	1	0	0	0	0	1	0	0	0	12257	507	18	2	1457	2	PODXL	7	131196042	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122336	131196042	27942621	6425	29927											
PLXNA4	91584	broad.mit.edu	37	chr7	131817900	131817900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccgggactgctcagccaGgtatgcgttcatgtcttggt	6	12	12	11	2	3	0	2	0	1	0	4	1	4	1	2	3	3	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131817900G>T	ENST00000359827.3	-	31	6459	c.5497C>A	c.(5497-5499)Ctg>Atg	p.L1833M	PLXNA4_ENST00000321063.4_Missense_Mutation_p.L1833M			Q9HCM2	PLXA4_HUMAN	plexin A4	1833						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTCAGCCAGGTATGCGTTC	0.498													T	131817900	G	T	131817900	3	4	364	1	0	0	0	0	1	0	0	0	12199	991	35	4	195	4	PLXNA4	7	131817900	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	621858	131817900	27320763	6426	29928											
PLXNA4	91584	broad.mit.edu	37	chr7	131831449	131831449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcggggctgcccgtgtaccgGatcatgttttctgccaaggc	5	11	13	12	3	2	0	1	0	1	0	3	1	2	1	3	4	3	3	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131831449G>A	ENST00000359827.3	-	28	5837	c.4875C>T	c.(4873-4875)atC>atT	p.I1625I	PLXNA4_ENST00000321063.4_Silent_p.I1625I			Q9HCM2	PLXA4_HUMAN	plexin A4	1625						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGTGTACCGGATCATGTTTT	0.577													A	131831449	G	A	131831449	2	1	364	1	0	0	0	0	0	0	0	1	12199	1164	41	2		2	PLXNA4	7	131831449	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13549	131831449	27307214	6427	29929											
PLXNA4	91584	broad.mit.edu	37	chr7	131859595	131859595	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaacagcacccgcatggtgTaagttctatagtccaggaac	12	8	11	10	1	1	0	0	0	1	0	2	2	2	2	2	3	3	4	2	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131859595T>C	ENST00000359827.3	-	21	4921	c.3959A>G	c.(3958-3960)tAc>tGc	p.Y1320C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.Y1320C			Q9HCM2	PLXA4_HUMAN	plexin A4	1320						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CCGCATGGTGTAAGTTCTATA	0.577													C	131859595	T	C	131859595	3	2	364	1	0	0	0	0	1	0	0	0	12199	1638	57	3	1773	3	PLXNA4	7	131859595	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28146	131859595	27279068	6428	29930											
PLXNA4	91584	broad.mit.edu	37	chr7	131887409	131887409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaccccggcttacctctGtgatgcgggggtttgtgcac	4	10	13	14	3	1	1	0	1	1	0	1	2	1	1	4	3	3	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:131887409G>A	ENST00000359827.3	-	12	3544	c.2582C>T	c.(2581-2583)aCa>aTa	p.T861I	PLXNA4_ENST00000321063.4_Missense_Mutation_p.T861I			Q9HCM2	PLXA4_HUMAN	plexin A4	861	IPT/TIG 1.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTACCTCTGTGATGCGGGG	0.662													A	131887409	G	A	131887409	3	1	364	1	0	0	0	0	1	0	0	0	12199	1377	48	2	3186	2	PLXNA4	7	131887409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27814	131887409	27251254	6429	29931											
PLXNA4	91584	broad.mit.edu	37	chr7	132192525	132192525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaggtaggcagcctgcaGcaggcggtactccaccccac	9	4	13	15	1	0	0	0	0	0	0	1	1	1	1	4	5	4	5	4	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:132192525G>A	ENST00000359827.3	-	2	1890	c.928C>T	c.(928-930)Ctg>Ttg	p.L310L	PLXNA4_ENST00000423507.2_Silent_p.L310L|PLXNA4_ENST00000378539.5_Silent_p.L310L|PLXNA4_ENST00000321063.4_Silent_p.L310L			Q9HCM2	PLXA4_HUMAN	plexin A4	310	Sema.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCAGCCTGCAGCAGGCGGTAC	0.592													A	132192525	G	A	132192525	2	1	364	1	0	0	0	0	0	0	0	1	12199	962	34	2		2	PLXNA4	7	132192525	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305116	132192525	26946138	6430	29932											
EXOC4	60412	broad.mit.edu	37	chr7	133749118	133749118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagggtgtgaagtacaCggagctggagtacatccacg	11	6	15	9	2	0	1	0	1	0	0	1	4	1	4	2	4	3	3	2	4	3	2	rs149542788	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133749118C>T	ENST00000253861.4	+	18	2791	c.2762C>T	c.(2761-2763)aCg>aTg	p.T921M	EXOC4_ENST00000545148.1_Missense_Mutation_p.T531M|EXOC4_ENST00000541309.1_Missense_Mutation_p.T209M|EXOC4_ENST00000539845.1_Missense_Mutation_p.T820M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	921					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GTGAAGTACACGGAGCTGGAG	0.572													T	133749118	C	T	133749118	3	4	364	1	0	0	0	0	1	0	0	0	5347	536	19	1	2841	1	EXOC4	7	133749118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1556593	133749118	25389545	6431	29933											
LRGUK	136332	broad.mit.edu	37	chr7	133812281	133812281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaagacgaaaggcagctCtaacatagcctcctcctacc	13	6	8	14	1	1	2	0	0	1	2	3	3	3	2	4	1	4	3	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133812281C>A	ENST00000285928.2	+	1	230	c.161C>A	c.(160-162)tCt>tAt	p.S54Y	LRGUK_ENST00000473068.1_3'UTR	NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	54							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						AAAGGCAGCTCTAACATAGCC	0.597													A	133812281	C	A	133812281	3	1	364	1	0	0	0	0	1	0	0	0	9013	913	32	4	163	4	LRGUK	7	133812281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63163	133812281	25326382	6432	29934											
LRGUK	136332	broad.mit.edu	37	chr7	133881836	133881836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagagatggtttggcaagCtgtattcatatggaaataga	14	11	12	4	0	1	2	1	0	0	2	1	4	1	3	0	3	1	5	0	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:133881836C>T	ENST00000285928.2	+	13	1593	c.1524C>T	c.(1522-1524)agC>agT	p.S508S		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	508	Guanylate kinase-like.						ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GTTTGGCAAGCTGTATTCATA	0.373													T	133881836	C	T	133881836	2	4	364	1	0	0	0	0	0	0	0	1	9013	796	28	2		2	LRGUK	7	133881836	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69555	133881836	25256827	6433	29935											
AKR1B10	57016	broad.mit.edu	37	chr7	134217814	134217814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcggtggaaaagcaaCgttcttggatgcctgggagg	9	9	15	8	2	1	0	0	0	1	0	2	3	1	3	2	5	4	2	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134217814C>T	ENST00000359579.4	+	4	730	c.410C>T	c.(409-411)aCg>aTg	p.T137M	AKR1B10_ENST00000475559.1_3'UTR	NM_020299.4	NP_064695.3	O60218	AK1BA_HUMAN	aldo-keto reductase family 1, member B10 (aldose reductase)	137					cellular aldehyde metabolic process|digestion|steroid metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(9)|skin(5)	20						GGAAAAGCAACGTTCTTGGAT	0.463													T	134217814	C	T	134217814	3	4	364	1	0	0	0	0	1	0	0	0	467	536	19	1	424	1	AKR1B10	7	134217814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335978	134217814	24920849	6434	29936											
CALD1	800	broad.mit.edu	37	chr7	134618793	134618793	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatgaaaagaaagcacaaGaagataaacttcagacagct	22	6	7	6	0	1	5	1	1	0	4	1	5	1	5	0	0	3	2	0	0	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134618793G>T	ENST00000361675.2	+	5	1502	c.1273G>T	c.(1273-1275)Gaa>Taa	p.E425*	CALD1_ENST00000361901.2_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000417172.1_Intron|CALD1_ENST00000424922.1_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000543443.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	425					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GAAAGCACAAGAAGATAAACT	0.373													T	134618793	G	T	134618793	4	4	364	1	0	0	0	0	0	1	0	0	2607	943	33	4	1340	4	CALD1	7	134618793	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	400979	134618793	24519870	6435	29937											
CALD1	800	broad.mit.edu	37	chr7	134635185	134635185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagaagctgctgagaaaCgccagaagatgccagaagat	16	4	13	8	1	0	6	0	1	0	6	0	8	0	6	2	0	5	3	2	0	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134635185C>T	ENST00000361388.2	+	9	1634	c.1168C>T	c.(1168-1170)Cgc>Tgc	p.R390C	CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361901.2_Missense_Mutation_p.R364C|CALD1_ENST00000422748.1_Missense_Mutation_p.R390C|CALD1_ENST00000393118.2_Missense_Mutation_p.R384C|CALD1_ENST00000417172.1_Missense_Mutation_p.R364C|CALD1_ENST00000361675.2_Missense_Mutation_p.R619C|CALD1_ENST00000424922.1_Missense_Mutation_p.R358C|CALD1_ENST00000495522.1_Missense_Mutation_p.R384C|CALD1_ENST00000543443.1_Missense_Mutation_p.R369C	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	619					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAGAAACGCCAGAAGAT	0.433													T	134635185	C	T	134635185	3	4	364	1	0	0	0	0	1	0	0	0	2607	536	19	1	1938	1	CALD1	7	134635185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16392	134635185	24503478	6436	29938											
CALD1	800	broad.mit.edu	37	chr7	134644788	134644788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgttcctgctgaaggtGtacgcaacatcaagagtatg	10	12	10	9	1	1	2	1	1	0	1	3	2	3	2	2	1	3	5	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134644788G>A	ENST00000361388.2	+	12	1904	c.1438G>A	c.(1438-1440)Gta>Ata	p.V480I	CALD1_ENST00000466704.1_3'UTR|CALD1_ENST00000361901.2_Missense_Mutation_p.V454I|CALD1_ENST00000422748.1_Missense_Mutation_p.V479I|CALD1_ENST00000393118.2_Missense_Mutation_p.V474I|CALD1_ENST00000417172.1_Missense_Mutation_p.V454I|CALD1_ENST00000361675.2_Missense_Mutation_p.V709I|CALD1_ENST00000424922.1_Missense_Mutation_p.V448I|CALD1_ENST00000495522.1_Missense_Mutation_p.V473I|CALD1_ENST00000543443.1_Missense_Mutation_p.V459I	NM_033138.3|NM_033157.3	NP_149129.2|NP_149347.2	Q05682	CALD1_HUMAN	caldesmon 1	709					cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						TGCTGAAGGTGTACGCAACAT	0.458													A	134644788	G	A	134644788	3	1	364	1	0	0	0	0	1	0	0	0	2607	1377	48	2	2220	2	CALD1	7	134644788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9603	134644788	24493875	6437	29939											
TMEM140	55281	broad.mit.edu	37	chr7	134849717	134849717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgttccctctgagggCtgagagggctgagagcaagc	7	8	17	9	0	1	3	0	3	1	2	2	5	2	3	1	3	2	5	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134849717C>T	ENST00000275767.3	+	2	747	c.524C>T	c.(523-525)gCt>gTt	p.A175V	C7orf49_ENST00000459937.1_Intron	NM_018295.3	NP_060765.4	Q9NV12	TM140_HUMAN	transmembrane protein 140							integral to membrane				kidney(1)|large_intestine(2)|lung(2)	5						CCTCTGAGGGCTGAGAGGGCT	0.577													T	134849717	C	T	134849717	3	4	364	1	0	0	0	0	1	0	0	0	16155	797	28	2	526	2	TMEM140	7	134849717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	204929	134849717	24288946	6438	29940											
C7orf49	78996	broad.mit.edu	37	chr7	134851540	134851540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccagaacttgtgtgaggCgacacggagcagggagggga	10	5	17	9	2	0	2	0	1	0	1	1	6	1	5	1	5	2	1	1	5	1	1	rs146289482		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:134851540C>T	ENST00000424142.1	-	4	734	c.132G>A	c.(130-132)tcG>tcA	p.S44S	C7orf49_ENST00000483029.2_Silent_p.S44S|C7orf49_ENST00000430372.1_Silent_p.S98S|C7orf49_ENST00000459937.1_Intron|C7orf49_ENST00000393114.3_Silent_p.S99S	NM_001243749.1|NM_001243753.1	NP_001230678.1|NP_001230682.1	Q9BWK5	MRI_HUMAN	chromosome 7 open reading frame 49	99						cytoplasm				endometrium(1)|large_intestine(4)|lung(1)|ovary(1)	7						TTGTGTGAGGCGACACGGAGC	0.642													T	134851540	C	T	134851540	2	4	364	1	0	0	0	0	0	0	0	1	2422	755	27	1		1	C7orf49	7	134851540	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1823	134851540	24287123	6439	29941											
CNOT4	4850	broad.mit.edu	37	chr7	135082964	135082964	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatactgagagaatctgaaGgtttgtcaatggggctataa	13	12	11	5	0	2	3	1	2	1	1	2	4	2	3	0	3	1	2	0	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135082964G>T	ENST00000428680.2	-	8	1106	c.827C>A	c.(826-828)cCt>cAt	p.P276H	CNOT4_ENST00000356162.4_Missense_Mutation_p.P279H|CNOT4_ENST00000414802.1_Missense_Mutation_p.P279H|CNOT4_ENST00000541284.1_Missense_Mutation_p.P279H|CNOT4_ENST00000451834.1_Missense_Mutation_p.P276H|CNOT4_ENST00000315544.5_Missense_Mutation_p.P279H|CNOT4_ENST00000361528.4_Missense_Mutation_p.P276H|CNOT4_ENST00000423368.2_Missense_Mutation_p.P279H	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	279					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						AGAATCTGAAGGTTTGTCAAT	0.323													T	135082964	G	T	135082964	3	4	364	1	0	0	0	0	1	0	0	0	3652	1000	35	4	1213	4	CNOT4	7	135082964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231424	135082964	24055699	6440	29942											
NUP205	23165	broad.mit.edu	37	chr7	135304414	135304414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttacatcatattgaagaaaCtgttagacttcattttgaag	14	16	6	5	0	2	4	2	2	0	2	2	4	2	4	0	0	2	1	0	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135304414C>T	ENST00000285968.6	+	29	4233	c.4207C>T	c.(4207-4209)Ctg>Ttg	p.L1403L		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1403					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						ATTGAAGAAACTGTTAGACTT	0.303													T	135304414	C	T	135304414	2	4	364	1	0	0	0	0	0	0	0	1	10835	564	20	2		2	NUP205	7	135304414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221450	135304414	23834249	6441	29943											
NUP205	23165	broad.mit.edu	37	chr7	135307563	135307563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggctgacagcccctgaaGatgtatttagcaaattacag	15	9	9	8	0	0	3	0	2	0	1	0	3	0	3	2	1	3	3	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135307563G>A	ENST00000285968.6	+	31	4395	c.4369G>A	c.(4369-4371)Gat>Aat	p.D1457N		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1457					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						AGCCCCTGAAGATGTATTTAG	0.403													A	135307563	G	A	135307563	3	1	364	1	0	0	0	0	1	0	0	0	10835	942	33	2	4491	2	NUP205	7	135307563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3149	135307563	23831100	6442	29944											
NUP205	23165	broad.mit.edu	37	chr7	135310033	135310033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttggtagaagatgaccGtactttgcagagcttactca	11	11	10	9	1	1	4	1	1	0	3	1	4	1	4	1	1	5	5	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135310033G>A	ENST00000285968.6	+	32	4627	c.4601G>A	c.(4600-4602)cGt>cAt	p.R1534H		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1534					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						GAAGATGACCGTACTTTGCAG	0.413													A	135310033	G	A	135310033	3	1	364	1	0	0	0	0	1	0	0	0	10835	1145	40	1	4727	1	NUP205	7	135310033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2470	135310033	23828630	6443	29945											
SLC13A4	26266	broad.mit.edu	37	chr7	135391027	135391027	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggacagcaacgtggtacaGcacatgaagcagagcagcag	15	4	13	9	1	0	2	0	1	0	1	0	3	0	3	0	2	7	6	0	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:135391027G>T	ENST00000354042.4	-	4	1076	c.387C>A	c.(385-387)tgC>tgA	p.C129*		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	129						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						ACGTGGTACAGCACATGAAGC	0.632													T	135391027	G	T	135391027	4	4	364	1	0	0	0	0	0	1	0	0	14488	963	34	4	1545	4	SLC13A4	7	135391027	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80994	135391027	23747636	6444	29946											
CREB3L2	64764	broad.mit.edu	37	chr7	137569746	137569746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacatgctgtcttacccacgGaggctgtgtagggctcctgc	6	10	12	13	1	1	0	0	0	1	0	2	1	2	1	2	3	3	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137569746G>T	ENST00000330387.6	-	10	1616	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	CREB3L2_ENST00000456390.1_Missense_Mutation_p.S422Y	NM_194071.3	NP_919047.2	Q70SY1	CR3L2_HUMAN	cAMP responsive element binding protein 3-like 2	422					chondrocyte differentiation|positive regulation of transcription, DNA-dependent|response to endoplasmic reticulum stress|response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	cAMP response element binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		FUS/CREB3L2(158)	breast(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19						CTTACCCACGGAGGCTGTGTA	0.532			T	FUS	fibromyxoid sarcoma								T	137569746	G	T	137569746	3	4	364	1	0	0	0	0	1	0	0	0	3888	1174	41	4	309	4	CREB3L2	7	137569746	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2178719	137569746	21568917	6445	29947											
AKR1D1	6718	broad.mit.edu	37	chr7	137776629	137776629	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagtacccatggcctttaAggtgagttcagatgcccaaa	12	10	10	9	0	1	3	1	2	0	1	1	3	1	3	3	2	2	2	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:137776629A>C	ENST00000242375.3	+	3	419	c.377A>C	c.(376-378)aAg>aCg	p.K126T	AKR1D1_ENST00000411726.2_Splice_Site_p.K126T|AKR1D1_ENST00000432161.1_Splice_Site_p.K126T|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1	126					androgen metabolic process|bile acid biosynthetic process|bile acid catabolic process|C21-steroid hormone metabolic process|cholesterol catabolic process|digestion	cytosol	aldo-keto reductase (NADP) activity|delta4-3-oxosteroid 5beta-reductase activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23						ATGGCCTTTAAGGTGAGTTCA	0.512													C	137776629	A	C	137776629	5	2	364	1	0	0	0	0	0	0	1	0	473	86	3	5	387	5	AKR1D1	7	137776629	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	206883	137776629	21362034	6446	29948											
KIAA1549	57670	broad.mit.edu	37	chr7	138588381	138588381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcccttctccacatccGccttctggtggaaacctcgc	6	10	9	16	2	2	0	0	0	2	0	5	1	3	1	5	3	1	0	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138588381G>A	ENST00000440172.1	-	8	3670	c.3622C>T	c.(3622-3624)Cgg>Tgg	p.R1208W	KIAA1549_ENST00000422774.1_Missense_Mutation_p.R1208W|KIAA1549_ENST00000242365.4_Missense_Mutation_p.R1158W	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1208						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CTCCACATCCGCCTTCTGGTG	0.572			O	BRAF	pilocytic astrocytoma								A	138588381	G	A	138588381	3	1	364	1	0	0	0	0	1	0	0	0	8302	1086	38	1	2282	1	KIAA1549	7	138588381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	811752	138588381	20550282	6447	29949											
KIAA1549	57670	broad.mit.edu	37	chr7	138602434	138602434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcatcagagacagagaCgcaggtgcttccgaaggcga	11	5	14	11	4	1	2	1	0	0	2	3	6	2	2	1	3	1	3	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138602434C>T	ENST00000440172.1	-	2	1986	c.1938G>A	c.(1936-1938)gcG>gcA	p.A646A	KIAA1549_ENST00000422774.1_Silent_p.A646A|KIAA1549_ENST00000242365.4_Silent_p.A596A	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	646	Ser-rich.					integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GAGACAGAGACGCAGGTGCTT	0.498			O	BRAF	pilocytic astrocytoma								T	138602434	C	T	138602434	2	4	364	1	0	0	0	0	0	0	0	1	8302	523	19	1		1	KIAA1549	7	138602434	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14053	138602434	20536229	6448	29950											
KIAA1549	57670	broad.mit.edu	37	chr7	138603183	138603183	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggaccggggagggctgAattgctatgcaattcggatg	10	8	15	8	2	0	1	0	1	0	0	1	4	0	4	1	5	2	3	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603183A>G	ENST00000440172.1	-	2	1237	c.1189T>C	c.(1189-1191)Tca>Cca	p.S397P	KIAA1549_ENST00000422774.1_Missense_Mutation_p.S397P|KIAA1549_ENST00000242365.4_Missense_Mutation_p.S347P	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	397						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GGGAGGGCTGAATTGCTATGC	0.522			O	BRAF	pilocytic astrocytoma								G	138603183	A	G	138603183	3	3	364	1	0	0	0	0	1	0	0	0	8302	246	9	3	4739	3	KIAA1549	7	138603183	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	749	138603183	20535480	6449	29951											
KIAA1549	57670	broad.mit.edu	37	chr7	138603454	138603454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctggaggctgtgagacCtcccccaaggagggcaacgg	8	6	14	13	1	1	1	0	1	1	1	3	4	3	3	4	5	1	2	4	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138603454C>A	ENST00000440172.1	-	2	966	c.918G>T	c.(916-918)gaG>gaT	p.E306D	KIAA1549_ENST00000422774.1_Missense_Mutation_p.E306D|KIAA1549_ENST00000242365.4_Missense_Mutation_p.E256D	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	306						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GCTGTGAGACCTCCCCCAAGG	0.512			O	BRAF	pilocytic astrocytoma								A	138603454	C	A	138603454	3	1	364	1	0	0	0	0	1	0	0	0	8302	680	24	4	5010	4	KIAA1549	7	138603454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271	138603454	20535209	6450	29952											
ZC3HAV1	56829	broad.mit.edu	37	chr7	138793934	138793934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtctccaacaccacaaaGcggtcgggcccggccacctg	8	4	11	18	4	1	0	0	0	1	0	3	0	1	0	6	4	2	0	6	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138793934G>A	ENST00000242351.5	-	1	460	c.144C>T	c.(142-144)cgC>cgT	p.R48R	ZC3HAV1_ENST00000471652.1_Silent_p.R48R|ZC3HAV1_ENST00000464606.1_Silent_p.R48R	NM_020119.3	NP_064504.2	Q7Z2W4	ZCCHV_HUMAN	zinc finger CCCH-type, antiviral 1	48					response to virus	cytoplasm|nucleus	NAD+ ADP-ribosyltransferase activity|RNA binding|zinc ion binding			cervix(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(4)|skin(1)	37						ACACCACAAAGCGGTCGGGCC	0.711													A	138793934	G	A	138793934	2	1	364	1	0	0	0	0	0	0	0	1	17676	958	34	2		2	ZC3HAV1	7	138793934	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190480	138793934	20344729	6451	29953											
TTC26	79989	broad.mit.edu	37	chr7	138872160	138872160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttattcagatgggccaGttttactattctgccaaagc	9	15	7	10	0	3	1	1	0	2	1	4	1	3	1	2	1	3	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138872160G>T	ENST00000464848.1	+	17	1508	c.1428G>T	c.(1426-1428)caG>caT	p.Q476H	TTC26_ENST00000343187.4_Missense_Mutation_p.Q445H|TTC26_ENST00000478836.2_Missense_Mutation_p.Q369H|TTC26_ENST00000495038.1_Missense_Mutation_p.Q345H|TTC26_ENST00000430935.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	476							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						AGATGGGCCAGTTTTACTATT	0.433													T	138872160	G	T	138872160	3	4	364	1	0	0	0	0	1	0	0	0	16796	1020	36	4	1494	4	TTC26	7	138872160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78226	138872160	20266503	6452	29954											
UBN2	254048	broad.mit.edu	37	chr7	138969078	138969078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccttccacctacaaaaaatCttcaggccccctcaaagcta	13	8	4	16	0	3	0	2	0	1	0	4	0	4	0	5	1	2	1	5	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969078C>T	ENST00000473989.3	+	15	3427	c.3427C>T	c.(3427-3429)Ctt>Ttt	p.L1143F	UBN2_ENST00000288561.8_Missense_Mutation_p.L1060F	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TACAAAAAATCTTCAGGCCCC	0.473													T	138969078	C	T	138969078	3	4	364	1	0	0	0	0	1	0	0	0	16995	913	32	2	3485	2	UBN2	7	138969078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96918	138969078	20169585	6453	29955											
UBN2	254048	broad.mit.edu	37	chr7	138969195	138969195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcaaccttaactcaagcGgagctaataggactagtctg	13	9	10	9	1	2	0	1	0	1	0	2	2	2	2	1	2	5	3	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:138969195G>A	ENST00000473989.3	+	15	3544	c.3544G>A	c.(3544-3546)Gga>Aga	p.G1182R	UBN2_ENST00000288561.8_Missense_Mutation_p.G1099R	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						TAACTCAAGCGGAGCTAATAG	0.493													A	138969195	G	A	138969195	3	1	364	1	0	0	0	0	1	0	0	0	16995	1117	39	1	3602	1	UBN2	7	138969195	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117	138969195	20169468	6454	29956											
HIPK2	28996	broad.mit.edu	37	chr7	139285180	139285180	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctcacagatgactggtgCtgcttactcttccgggagga	8	11	11	11	1	2	2	1	1	1	1	3	4	3	4	2	3	4	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139285180C>T	ENST00000406875.3	-	11	2512	c.2418G>A	c.(2416-2418)caG>caA	p.Q806Q	HIPK2_ENST00000428878.2_Silent_p.Q779Q|HIPK2_ENST00000342645.6_Silent_p.Q806Q	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	806	Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGACTGGTGCTGCTTACTCT	0.552													T	139285180	C	T	139285180	2	4	364	1	0	0	0	0	0	0	0	1	7172	796	28	2		2	HIPK2	7	139285180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315985	139285180	19853483	6455	29957											
HIPK2	28996	broad.mit.edu	37	chr7	139288934	139288934	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgctgccatgctgggggAagcaggatctgctgggtccc	6	9	16	10	0	1	0	0	0	1	0	2	2	2	2	2	4	5	5	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139288934A>G	ENST00000406875.3	-	10	2242	c.2148T>C	c.(2146-2148)ctT>ctC	p.L716L	HIPK2_ENST00000428878.2_Silent_p.L689L|HIPK2_ENST00000342645.6_Silent_p.L716L	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	716	Interaction with SKI and SMAD1.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGCTGGGGGAAGCAGGATCT	0.562													G	139288934	A	G	139288934	2	3	364	1	0	0	0	0	0	0	0	1	7172	233	9	3		3	HIPK2	7	139288934	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3754	139288934	19849729	6456	29958											
TBXAS1	6916	broad.mit.edu	37	chr7	139661747	139661747	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttcctccaaatggtcctGgatgcccgacattctgcaag	9	10	9	13	1	1	0	0	0	1	0	4	3	4	1	4	2	2	1	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139661747G>T	ENST00000263552.6	+	13	1390	c.852G>T	c.(850-852)ctG>ctT	p.L284L	TBXAS1_ENST00000416849.2_Silent_p.L330L|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000414508.2_Silent_p.L284L|TBXAS1_ENST00000336425.5_Silent_p.L283L|TBXAS1_ENST00000425687.1_Silent_p.L216L|TBXAS1_ENST00000458722.1_Silent_p.L329L|TBXAS1_ENST00000411653.1_Silent_p.L283L|TBXAS1_ENST00000436047.2_Silent_p.L284L|TBXAS1_ENST00000448866.1_Silent_p.L283L	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	283					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					AAATGGTCCTGGATGCCCGAC	0.507													T	139661747	G	T	139661747	2	4	364	1	0	0	0	0	0	0	0	1	15764	1335	47	4		4	TBXAS1	7	139661747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372813	139661747	19476916	6457	29959											
PARP12	64761	broad.mit.edu	37	chr7	139734114	139734114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagttgtgccatagaccaGgtttttctgaacgaaggctg	9	14	11	7	1	1	2	0	1	1	1	1	3	1	2	2	2	2	3	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:139734114G>T	ENST00000263549.3	-	8	2215	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	448	WWE 2.			VQKNLVY -> MGGFGQH (in Ref. 4).		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCATAGACCAGGTTTTTCTGA	0.408													T	139734114	G	T	139734114	3	4	364	1	0	0	0	0	1	0	0	0	11533	991	35	4	783	4	PARP12	7	139734114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72367	139734114	19404549	6458	29960											
RAB19	401409	broad.mit.edu	37	chr7	140125904	140125904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctggactccagccccgTtcttatggcccagggtccaa	6	8	9	18	1	1	0	0	0	1	0	3	1	3	1	7	3	1	1	7	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140125904T>C	ENST00000275874.5	+	5	947	c.749T>C	c.(748-750)gTt>gCt	p.V250A	RAB19_ENST00000537763.1_Missense_Mutation_p.V203A|RAB19_ENST00000356407.3_Missense_Mutation_p.V203A			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	203					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					TCCAGCCCCGTTCTTATGGCC	0.577													C	140125904	T	C	140125904	3	2	364	1	0	0	0	0	1	0	0	0	12992	1725	60	3	618	3	RAB19	7	140125904	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	391790	140125904	19012759	6459	29961											
DENND2A	27147	broad.mit.edu	37	chr7	140244525	140244525	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagagactcaaagtccacGtgctcgagccgggagtccag	12	5	13	11	3	1	2	1	0	0	2	4	5	3	3	3	1	2	1	3	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140244525G>A	ENST00000275884.6	-	13	2637	c.2220C>T	c.(2218-2220)caC>caT	p.H740H	DENND2A_ENST00000496613.1_Silent_p.H740H|DENND2A_ENST00000492720.1_Silent_p.H740H|DENND2A_ENST00000537639.1_Silent_p.H740H			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	740	DENN.									breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CAAAGTCCACGTGCTCGAGCC	0.617													A	140244525	G	A	140244525	2	1	364	1	0	0	0	0	0	0	0	1	4468	1136	40	1		1	DENND2A	7	140244525	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118621	140244525	18894138	6460	29962											
DENND2A	27147	broad.mit.edu	37	chr7	140287481	140287481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcatagacgttctcctcCgataaagtgcgtgtcagccc	8	12	8	13	3	4	1	2	0	2	1	6	2	5	1	3	0	2	1	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140287481C>T	ENST00000275884.6	-	3	1512	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	DENND2A_ENST00000496613.1_Silent_p.S365S|DENND2A_ENST00000492720.1_Silent_p.S365S|DENND2A_ENST00000537639.1_Silent_p.S365S			Q9ULE3	DEN2A_HUMAN	DENN/MADD domain containing 2A	365										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(22)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49	Melanoma(164;0.00956)					CGTTCTCCTCCGATAAAGTGC	0.527													T	140287481	C	T	140287481	2	4	364	1	0	0	0	0	0	0	0	1	4468	639	23	1		1	DENND2A	7	140287481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42956	140287481	18851182	6461	29963											
ADCK2	90956	broad.mit.edu	37	chr7	140373929	140373929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggaaacctccagaaaatCtcgcagaccagtcgtttcta	12	8	8	13	3	2	2	0	0	2	2	5	3	3	3	4	1	1	2	4	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140373929C>A	ENST00000072869.4	+	1	977	c.799C>A	c.(799-801)Ctc>Atc	p.L267I	ADCK2_ENST00000476491.1_Missense_Mutation_p.L267I	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	267	Protein kinase.					integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					TCCAGAAAATCTCGCAGACCA	0.577													A	140373929	C	A	140373929	3	1	364	1	0	0	0	0	1	0	0	0	289	913	32	4	801	4	ADCK2	7	140373929	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86448	140373929	18764734	6462	29964											
BRAF	673	broad.mit.edu	37	chr7	140500184	140500184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatagagtccgaggcgggtgCggaaggggatgatccagatg	11	6	18	6	3	0	3	0	1	0	2	2	6	2	5	2	5	1	0	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140500184C>T	ENST00000288602.6	-	7	1018	c.958G>A	c.(958-960)Gca>Aca	p.A320T		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	320					activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	GAGGCGGGTGCGGAAGGGGAT	0.493		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140500184	C	T	140500184	3	4	364	1	0	0	0	0	1	0	0	0	1505	768	27	1	1390	1	BRAF	7	140500184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126255	140500184	18638479	6463	29965											
BRAF	673	broad.mit.edu	37	chr7	140508788	140508788	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtaactccacaccttGcaggtacctatggtatcata	11	11	8	11	0	1	0	1	0	0	0	2	1	2	1	3	3	3	4	3	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:140508788G>T	ENST00000288602.6	-	4	572	c.512C>A	c.(511-513)gCa>gAa	p.A171E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	171	RBD.				activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCCACACCTTGCAGGTACCTA	0.348		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140508788	G	T	140508788	3	4	364	1	0	0	0	0	1	0	0	0	1505	1319	46	4	1848	4	BRAF	7	140508788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8604	140508788	18629875	6464	29966											
KIAA1147	57189	broad.mit.edu	37	chr7	141385376	141385376	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgcgccacgttccagctcGctctccacgggcatgttggc	4	8	12	17	6	1	0	0	0	1	0	4	0	2	0	3	2	1	5	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141385376G>A	ENST00000536163.1	-	3	428	c.429C>T	c.(427-429)agC>agT	p.S143S	KIAA1147_ENST00000482493.1_Silent_p.S52S	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	143										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTTCCAGCTCGCTCTCCACGG	0.557													A	141385376	G	A	141385376	2	1	364	1	0	0	0	0	0	0	0	1	8268	1078	38	1		1	KIAA1147	7	141385376	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	876588	141385376	17753287	6465	29967											
WEE2	494551	broad.mit.edu	37	chr7	141420793	141420793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgggcatcacccccatgtgGtacgttactattcctcatgg	7	13	9	12	1	2	0	2	0	0	0	3	0	3	0	3	3	2	3	3	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141420793G>A	ENST00000397541.2	+	5	1223	c.817G>A	c.(817-819)Gta>Ata	p.V273I	WEE2-AS1_ENST00000484172.1_RNA|WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000471512.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	273	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					CCCCCATGTGGTACGTTACTA	0.408													A	141420793	G	A	141420793	3	1	364	1	0	0	0	0	1	0	0	0	17447	1261	44	2	835	2	WEE2	7	141420793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35417	141420793	17717870	6466	29968											
TAS2R3	50831	broad.mit.edu	37	chr7	141464473	141464473	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtgactgaacacttcaGaaagaagaggagtgagtatt	16	9	12	4	0	1	6	1	3	0	3	1	8	1	7	0	1	1	1	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141464473G>T	ENST00000247879.2	+	1	577	c.515G>T	c.(514-516)aGa>aTa	p.R172I	SSBP1_ENST00000465582.1_Intron	NM_016943.2	NP_058639.1	Q9NYW6	TA2R3_HUMAN	taste receptor, type 2, member 3	172					sensory perception of taste		taste receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)	14	Melanoma(164;0.0171)					GAACACTTCAGAAAGAAGAGG	0.458													T	141464473	G	T	141464473	3	4	364	1	0	0	0	0	1	0	0	0	15669	942	33	4	517	4	TAS2R3	7	141464473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43680	141464473	17674190	6467	29969											
TAS2R5	54429	broad.mit.edu	37	chr7	141490585	141490585	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcaatttgttacttacaGtccaaattggcttaacattc	13	16	4	8	0	1	0	1	0	0	0	3	0	2	0	1	1	3	2	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141490585G>A	ENST00000247883.4	+	1	569	c.424G>A	c.(424-426)Gtc>Atc	p.V142I		NM_018980.2	NP_061853.1	Q9NYW4	TA2R5_HUMAN	taste receptor, type 2, member 5	142					chemosensory behavior|sensory perception of taste		taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9	Melanoma(164;0.0171)					GTTACTTACAGTCCAAATTGG	0.468													A	141490585	G	A	141490585	3	1	364	1	0	0	0	0	1	0	0	0	15680	1029	36	2	426	2	TAS2R5	7	141490585	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26112	141490585	17648078	6468	29970											
OR9A4	130075	broad.mit.edu	37	chr7	141619580	141619580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagtcatagaggcccttcGggatggggtgaaacgctgct	10	9	14	8	2	1	2	1	1	0	1	2	3	1	3	1	4	2	2	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141619580G>A	ENST00000548136.1	+	1	964	c.905G>A	c.(904-906)cGg>cAg	p.R302Q	MGAM_ENST00000497554.1_Intron	NM_001001656.1	NP_001001656.1	Q8NGU2	OR9A4_HUMAN	olfactory receptor, family 9, subfamily A, member 4	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|large_intestine(9)|lung(7)|prostate(1)|skin(2)	22	Melanoma(164;0.0171)					GAGGCCCTTCGGGATGGGGTG	0.423													A	141619580	G	A	141619580	3	1	364	1	0	0	0	0	1	0	0	0	11325	1116	39	1	907	1	OR9A4	7	141619580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128995	141619580	17519083	6469	29971											
TAS2R38	5726	broad.mit.edu	37	chr7	141673327	141673327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagacacagcagcacacAatcactgttgctcagtgcct	11	8	9	13	0	2	1	2	1	0	1	2	2	2	1	1	0	4	5	1	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141673327A>G	ENST00000547270.1	-	1	246	c.163T>C	c.(163-165)Tgt>Cgt	p.C55R		NM_176817.4	NP_789787	P59533	T2R38_HUMAN	taste receptor, type 2, member 38	55					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			NS(2)|breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)|stomach(1)	21	Melanoma(164;0.0171)					AGCAGCACACAATCACTGTTG	0.498													G	141673327	A	G	141673327	3	3	364	1	0	0	0	0	1	0	0	0	15672	130	5	3	842	3	TAS2R38	7	141673327	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53747	141673327	17465336	6470	29972											
MGAM	8972	broad.mit.edu	37	chr7	141719014	141719014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaggccacatgtgaccaaCgtggctgttgctggaatccc	8	10	11	12	1	1	1	1	1	0	0	2	2	2	2	3	3	2	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141719014C>T	ENST00000475668.2	+	4	397	c.343C>T	c.(343-345)Cgt>Tgt	p.R115C	MGAM_ENST00000549489.2_Missense_Mutation_p.R115C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	115	P-type 1.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	ATGTGACCAACGTGGCTGTTG	0.433													T	141719014	C	T	141719014	3	4	364	1	0	0	0	0	1	0	0	0	9616	536	19	1	353	1	MGAM	7	141719014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45687	141719014	17419649	6471	29973											
MGAM	8972	broad.mit.edu	37	chr7	141727476	141727476	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcagtcgttacgaatatGgaaccttagacaacatgagg	14	9	9	9	2	1	2	1	1	0	1	2	4	1	3	2	2	3	1	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141727476G>T	ENST00000475668.2	+	10	1216	c.1162G>T	c.(1162-1164)Gga>Tga	p.G388*	MGAM_ENST00000549489.2_Nonsense_Mutation_p.G388*			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	388	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTACGAATATGGAACCTTAGA	0.448													T	141727476	G	T	141727476	4	4	364	1	0	0	0	0	0	1	0	0	9616	1349	47	4	1196	4	MGAM	7	141727476	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8462	141727476	17411187	6472	29974											
MGAM	8972	broad.mit.edu	37	chr7	141759732	141759732	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggatgacgtcttcatcaAatacccaaatgatggagaca	15	8	10	8	1	3	3	2	2	1	1	3	6	3	5	1	3	1	0	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:141759732A>C	ENST00000475668.2	+	33	4079	c.4025A>C	c.(4024-4026)aAa>aCa	p.K1342T	MGAM_ENST00000549489.2_Missense_Mutation_p.K1342T			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1342	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GTCTTCATCAAATACCCAAAT	0.498													C	141759732	A	C	141759732	3	2	364	1	0	0	0	0	1	0	0	0	9616	14	1	5	4151	5	MGAM	7	141759732	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32256	141759732	17378931	6473	29975											
PRSS1	5644	broad.mit.edu	37	chr7	142460314	142460314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgagctgcagtgcctggatGctcctgtgctgagccaggct	6	9	14	12	1	0	1	0	1	0	0	1	3	1	2	3	2	6	5	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142460314G>A	ENST00000486171.1	+	5	546	c.529G>A	c.(529-531)Gct>Act	p.A177T	PRSS1_ENST00000311737.7_Missense_Mutation_p.A163T			P07477	TRY1_HUMAN	protease, serine, 1 (trypsin 1)	163	Peptidase S1.				digestion|proteolysis	extracellular space	metal ion binding|protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(24)|prostate(2)	38	Melanoma(164;0.047)	all_cancers(3;2.14e-49)|Acute lymphoblastic leukemia(3;7.3e-185)|all_hematologic(3;1.1e-165)	all cancers(2;0.000126)|Colorectal(2;0.000157)|Epithelial(2;0.000191)|COAD - Colon adenocarcinoma(2;0.00189)			GTGCCTGGATGCTCCTGTGCT	0.522													A	142460314	G	A	142460314	3	1	364	1	0	0	0	0	1	0	0	0	12699	1319	46	2	501	2	PRSS1	7	142460314	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	700582	142460314	16678349	6474	29976											
EPHB6	2051	broad.mit.edu	37	chr7	142561789	142561794	+	In_Frame_Del	DEL	GGCAGG	GGCAGG	-																															acctttgaggcatgtcatgtGgcaggggcccctccaggcac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142561789_142561794delGGCAGG	ENST00000392957.2	+	7	1018_1023	c.231_236delGGCAGG	c.(229-237)gtggcaggg>gtg	p.AG78del	EPHB6_ENST00000442129.1_In_Frame_Del_p.AG78del|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	78						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CATGTCATGTGGCAGGGGCCCCTCCA	0.636													-	142561794	GGCAGG	-	142561789	7	5	364	1	0	1	0	1	0	0	0	0	5219	1335	47	0	241	0	EPHB6	7	142561789	In_Frame_Del	DEL	GGCAGG	TCGA-DU-6392-01A-11D-1705-08	101475	142561789	16576874	6475	29977											
TRPV6	55503	broad.mit.edu	37	chr7	142569693	142569693	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccgggtgtggaaggcctGtgcgtagcgttggatccgct	4	9	17	11	4	0	0	0	0	0	0	1	2	1	2	4	4	2	3	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142569693G>A	ENST00000359396.3	-	15	2190	c.1945C>T	c.(1945-1947)Cag>Tag	p.Q649*		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	649					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					TGGAAGGCCTGTGCGTAGCGT	0.572													A	142569693	G	A	142569693	4	1	364	1	0	0	0	0	0	1	0	0	16701	1386	48	2	236	2	TRPV6	7	142569693	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7904	142569693	16568970	6476	29978											
TRPV6	55503	broad.mit.edu	37	chr7	142574279	142574279	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagcaacaggttgtacAtctggcaggcaaaggttttg	12	9	13	7	0	1	0	0	0	1	0	1	1	1	1	0	5	3	6	0	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142574279A>T	ENST00000359396.3	-	6	889	c.644T>A	c.(643-645)aTg>aAg	p.M215K	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	215					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					CAGGTTGTACATCTGGCAGGC	0.562													T	142574279	A	T	142574279	3	4	364	1	0	0	0	0	1	0	0	0	16701	217	8	5	1573	5	TRPV6	7	142574279	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4586	142574279	16564384	6477	29979											
TRPV5	56302	broad.mit.edu	37	chr7	142612660	142612660	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcccctcacctctaggaGcaggatgatcacagccccaa	10	6	8	17	0	3	1	2	1	1	0	3	3	3	3	6	2	3	1	6	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142612660G>T	ENST00000265310.1	-	9	1549	c.1201C>A	c.(1201-1203)Ctc>Atc	p.L401I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	401					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTAGGAGCAGGATGATC	0.547													T	142612660	G	T	142612660	3	4	364	1	0	0	0	0	1	0	0	0	16700	971	34	4	1016	4	TRPV5	7	142612660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38381	142612660	16526003	6478	29980											
KEL	3792	broad.mit.edu	37	chr7	142640600	142640600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccagggtggaagaatgggGgttggaggagtccagctgga	10	6	20	5	0	0	1	0	0	0	1	1	5	1	5	2	7	2	2	2	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142640600G>A	ENST00000355265.2	-	15	2150	c.1676C>T	c.(1675-1677)cCc>cTc	p.P559L		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	559					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAAGAATGGGGGTTGGAGGAG	0.537													A	142640600	G	A	142640600	3	1	364	1	0	0	0	0	1	0	0	0	8200	1232	43	2	542	2	KEL	7	142640600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27940	142640600	16498063	6479	29981											
KEL	3792	broad.mit.edu	37	chr7	142655508	142655508	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcctgggtgccaggaattCtggacctctagaaaggaagc	11	7	14	9	0	2	1	0	0	2	1	2	5	2	4	3	4	3	0	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142655508C>A	ENST00000355265.2	-	5	882	c.408G>T	c.(406-408)caG>caT	p.Q136H	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	136					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCAGGAATTCTGGACCTCTA	0.502													A	142655508	C	A	142655508	3	1	364	1	0	0	0	0	1	0	0	0	8200	912	32	4	1850	4	KEL	7	142655508	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14908	142655508	16483155	6480	29982											
OR6V1	346517	broad.mit.edu	37	chr7	142749947	142749947	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgattactgccatggcgaCgtcatcaaccacttcttctg	8	13	7	13	2	4	1	2	1	2	0	4	2	4	1	2	1	3	0	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:142749947C>T	ENST00000418316.1	+	1	531	c.510C>T	c.(508-510)gaC>gaT	p.D170D		NM_001001667.1	NP_001001667.1	Q8N148	OR6V1_HUMAN	olfactory receptor, family 6, subfamily V, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	20	Melanoma(164;0.059)					GCCATGGCGACGTCATCAACC	0.542													T	142749947	C	T	142749947	2	4	364	1	0	0	0	0	0	0	0	1	11287	535	19	1		1	OR6V1	7	142749947	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94439	142749947	16388716	6481	29983											
CLCN1	1180	broad.mit.edu	37	chr7	143028657	143028657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaggatttgctgtgggCtcctgggagctgtatttgtg	4	14	14	9	0	1	0	1	0	0	0	2	2	2	2	2	3	2	4	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143028657C>T	ENST00000343257.2	+	10	1165	c.1078C>T	c.(1078-1080)Ctc>Ttc	p.L360F		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	360					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					TTGCTGTGGGCTCCTGGGAGC	0.473													T	143028657	C	T	143028657	3	4	364	1	0	0	0	0	1	0	0	0	3493	797	28	2	1116	2	CLCN1	7	143028657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278710	143028657	16110006	6482	29984											
CLCN1	1180	broad.mit.edu	37	chr7	143039110	143039110	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagattgctcacatcctGcccatgatggtggctgttat	7	13	11	10	0	2	2	2	1	0	1	3	2	3	2	2	3	2	3	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143039110G>A	ENST00000343257.2	+	15	1758	c.1671G>A	c.(1669-1671)ctG>ctA	p.L557L		NM_000083.2	NP_000074	P35523	CLCN1_HUMAN	chloride channel, voltage-sensitive 1	557					muscle contraction	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(4)|central_nervous_system(1)|endometrium(1)|large_intestine(11)|lung(26)|ovary(3)|prostate(2)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	58	Melanoma(164;0.205)					CTCACATCCTGCCCATGATGG	0.537													A	143039110	G	A	143039110	2	1	364	1	0	0	0	0	0	0	0	1	3493	1306	46	2		2	CLCN1	7	143039110	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10453	143039110	16099553	6483	29985											
EPHA1	2041	broad.mit.edu	37	chr7	143088766	143088766	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccagccgagtggaaGtgcaggatgtagcgtttcat	9	9	13	10	2	1	0	1	0	0	0	2	3	2	2	3	2	4	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143088766G>A	ENST00000275815.3	-	17	2885	c.2799C>T	c.(2797-2799)caC>caT	p.H933H		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	933	SAM.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				CCGAGTGGAAGTGCAGGATGT	0.612													A	143088766	G	A	143088766	2	1	364	1	0	0	0	0	0	0	0	1	5206	1020	36	2		2	EPHA1	7	143088766	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49656	143088766	16049897	6484	29986											
TAS2R41	259287	broad.mit.edu	37	chr7	143175323	143175323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcacacactccaccttcCtgtggctgaagtggaggttc	9	10	9	13	0	1	1	1	1	0	0	4	2	3	2	3	3	0	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143175323C>A	ENST00000408916.1	+	1	358	c.358C>A	c.(358-360)Ctg>Atg	p.L120M	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	120					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CTCCACCTTCCTGTGGCTGAA	0.522													A	143175323	C	A	143175323	3	1	364	1	0	0	0	0	1	0	0	0	15676	680	24	4	360	4	TAS2R41	7	143175323	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86557	143175323	15963340	6485	29987											
OR6B1	135946	broad.mit.edu	37	chr7	143701154	143701154	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggattccctgggagcttgaGtatgcgggcagccatgtttc	6	11	15	9	1	0	1	0	1	0	0	2	3	1	3	2	3	3	4	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143701154G>T	ENST00000408922.2	+	1	133	c.65G>T	c.(64-66)aGt>aTt	p.S22I		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GGGAGCTTGAGTATGCGGGCA	0.502													T	143701154	G	T	143701154	3	4	364	1	0	0	0	0	1	0	0	0	11263	1029	36	4	67	4	OR6B1	7	143701154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525831	143701154	15437509	6486	29988											
OR2A2	442361	broad.mit.edu	37	chr7	143807592	143807592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccacagagcactccagaGgaagaggtccatgagaacgg	13	4	12	12	1	0	4	0	1	0	4	3	6	3	5	4	3	2	1	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143807592G>A	ENST00000408979.2	+	1	986	c.917G>A	c.(916-918)aGg>aAg	p.R306K		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					GCACTCCAGAGGAAGAGGTCC	0.438													A	143807592	G	A	143807592	3	1	364	1	0	0	0	0	1	0	0	0	11053	1000	35	2	919	2	OR2A2	7	143807592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106438	143807592	15331071	6487	29989											
OR2A7	401427	broad.mit.edu	37	chr7	143956719	143956720	+	Translation_Start_Site	INS	-	-	A																															tggatgttatattgtcccccINSatatccctatgacagaggaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:143956719_143956720insA	ENST00000493325.1	-	0	95_96				OR2A1-AS1_ENST00000476560.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000487102.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|ARHGEF35_ENST00000543357.1_Intron	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					TATTGTCCCCCATATCCCTATG	0.436													A	143956720	-	A	143956719	6	5	364	1	0	1	1	0	0	0	0	0	11058	594	21	0		0	OR2A7	7	143956719	Translation_Start_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	149127	143956719	15181944	6488	29990											
NOBOX	135935	broad.mit.edu	37	chr7	144097329	144097329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggtcacccccaccgtCtgggcaatctctcggcgttt	4	10	13	14	3	3	0	1	0	2	0	5	0	3	0	3	5	0	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144097329C>A	ENST00000467773.1	-	5	920	c.921G>T	c.(919-921)caG>caT	p.Q307H	NOBOX_ENST00000483238.1_Missense_Mutation_p.Q307H|NOBOX_ENST00000223140.5_Missense_Mutation_p.Q222H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	307					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CCCCCACCGTCTGGGCAATCT	0.552													A	144097329	C	A	144097329	3	1	364	1	0	0	0	0	1	0	0	0	10588	912	32	4	1082	4	NOBOX	7	144097329	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140610	144097329	15041334	6489	29991											
TPK1	27010	broad.mit.edu	37	chr7	144288549	144288549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagatcagcgattcctcttgGattattataattggaaaagg	13	14	9	5	1	2	1	1	0	1	1	3	4	3	3	1	3	1	0	1	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:144288549G>A	ENST00000549981.1	-	9	840	c.117C>T	c.(115-117)atC>atT	p.I39I	TPK1_ENST00000538212.2_Intron|TPK1_ENST00000360057.3_Silent_p.I156I|TPK1_ENST00000378099.3_Intron|TPK1_ENST00000547966.1_5'UTR			Q9H3S4	TPK1_HUMAN	thiamin pyrophosphokinase 1	156					thiamine diphosphate biosynthetic process	cytosol	ATP binding|kinase activity|thiamine diphosphokinase activity			large_intestine(3)|lung(12)|ovary(2)|urinary_tract(2)	19					Thiamine(DB00152)	ATTCCTCTTGGATTATTATAA	0.443													A	144288549	G	A	144288549	2	1	364	1	0	0	0	0	0	0	0	1	16505	1164	41	2		2	TPK1	7	144288549	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191220	144288549	14850114	6490	29992											
CNTNAP2	26047	broad.mit.edu	37	chr7	147336303	147336303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acagctcgtttacagcgcctCcatggaccagataagtgcca	11	8	9	13	2	0	1	0	0	0	1	2	2	1	2	4	1	4	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:147336303C>T	ENST00000361727.3	+	13	2519	c.2003C>T	c.(2002-2004)tCc>tTc	p.S668F		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	668	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGCGCCTCCATGGACCAG	0.498										HNSCC(39;0.1)			T	147336303	C	T	147336303	3	4	364	1	0	0	0	0	1	0	0	0	3678	855	30	2	2053	2	CNTNAP2	7	147336303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3047754	147336303	11802360	6491	29993											
CNTNAP2	26047	broad.mit.edu	37	chr7	148080782	148080782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agattcacaaatacaacaccCcaggattcactggttgcctc	13	9	6	13	0	2	1	2	0	0	1	3	2	2	2	3	2	3	1	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148080782C>A	ENST00000361727.3	+	22	4033	c.3517C>A	c.(3517-3519)Cca>Aca	p.P1173T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.P232T|CNTNAP2_ENST00000463592.2_3'UTR	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1173	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATACAACACCCCAGGATTCAC	0.468										HNSCC(39;0.1)			A	148080782	C	A	148080782	3	1	364	1	0	0	0	0	1	0	0	0	3678	623	22	4	3603	4	CNTNAP2	7	148080782	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	744479	148080782	11057881	6492	29994											
EZH2	2146	broad.mit.edu	37	chr7	148506461	148506461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgaattttgttacccttgCgggttgcatccaccacaaaa	12	11	7	11	2	0	0	0	0	0	0	1	1	1	0	3	1	4	3	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148506461C>T	ENST00000320356.2	-	18	2172	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	EZH2_ENST00000476773.1_Missense_Mutation_p.R628H|EZH2_ENST00000541220.1_Missense_Mutation_p.R628H|EZH2_ENST00000350995.2_Missense_Mutation_p.R640H|EZH2_ENST00000483967.1_Missense_Mutation_p.R670H|EZH2_ENST00000478654.1_Missense_Mutation_p.R628H|EZH2_ENST00000460911.1_Missense_Mutation_p.R679H	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	679	SET.				negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding	p.R684H(1)|p.R640H(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			GTTACCCTTGCGGGTTGCATC	0.358			Mis		DLBCL								T	148506461	C	T	148506461	3	4	364	1	0	0	0	0	1	0	0	0	5376	768	27	1	216	1	EZH2	7	148506461	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425679	148506461	10632202	6493	29995											
PDIA4	9601	broad.mit.edu	37	chr7	148718144	148718144	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttaggaccaagactccatTttcttccttaacttccaagt	11	15	4	11	0	1	1	0	0	1	1	4	2	4	2	4	1	1	0	4	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148718144T>G	ENST00000286091.4	-	2	416	c.184A>C	c.(184-186)Aat>Cat	p.N62H		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	62	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGACTCCATTTTCTTCCTTA	0.433													G	148718144	T	G	148718144	3	3	364	1	0	0	0	0	1	0	0	0	11746	1841	64	5	1789	5	PDIA4	7	148718144	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	211683	148718144	10420519	6494	29996											
ZNF786	136051	broad.mit.edu	37	chr7	148768026	148768026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctctcccgtgtgcaggCgctgatggctgagcagctgc	4	9	14	14	2	1	2	0	2	1	0	3	2	2	2	2	2	4	5	2	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768026C>T	ENST00000316286.9	-	3	1852	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	ZNF786_ENST00000451334.3_Missense_Mutation_p.R576H|ZNF786_ENST00000491431.1_Missense_Mutation_p.R613H			Q8N393	ZN786_HUMAN	zinc finger protein 786	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CGTGTGCAGGCGCTGATGGCT	0.657													T	148768026	C	T	148768026	3	4	364	1	0	0	0	0	1	0	0	0	18257	768	27	1	514	1	ZNF786	7	148768026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49882	148768026	10370637	6495	29997											
ZNF786	136051	broad.mit.edu	37	chr7	148768624	148768624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accgtgcgcgtgctggtggaCctgcagcaggcggcgcaggc	5	5	18	13	5	0	0	0	0	0	0	0	1	0	1	2	5	4	4	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148768624C>T	ENST00000316286.9	-	3	1254	c.982G>A	c.(982-984)Gtc>Atc	p.V328I	ZNF786_ENST00000451334.3_Missense_Mutation_p.V377I|ZNF786_ENST00000491431.1_Missense_Mutation_p.V414I			Q8N393	ZN786_HUMAN	zinc finger protein 786	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGCTGGTGGACCTGCAGCAGG	0.642													T	148768624	C	T	148768624	3	4	364	1	0	0	0	0	1	0	0	0	18257	507	18	2	1112	2	ZNF786	7	148768624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	598	148768624	10370039	6496	29998											
ZNF425	155054	broad.mit.edu	37	chr7	148809279	148809279	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcaactgttcatcagtaGgagggctagttgtccttctt	7	16	10	8	0	4	0	3	0	1	0	5	1	5	1	1	2	1	5	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809279G>T	ENST00000378061.2	-	3	386	c.254C>A	c.(253-255)cCt>cAt	p.P85H	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	85					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTCATCAGTAGGAGGGCTAGT	0.373													T	148809279	G	T	148809279	3	4	364	1	0	0	0	0	1	0	0	0	18000	1000	35	4	2012	4	ZNF425	7	148809279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40655	148809279	10329384	6497	29999											
ZNF425	155054	broad.mit.edu	37	chr7	148809367	148809367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatccatgtgatcaaatCtggcttggaaaaagcatacc	13	11	7	10	0	2	1	1	1	1	0	4	2	4	2	3	2	2	2	3	2	4	3	rs144417073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148809367C>A	ENST00000378061.2	-	3	298	c.166G>T	c.(166-168)Gat>Tat	p.D56Y	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	56	KRAB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTGATCAAATCTGGCTTGGAA	0.428													A	148809367	C	A	148809367	3	1	364	1	0	0	0	0	1	0	0	0	18000	913	32	4	2100	4	ZNF425	7	148809367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88	148809367	10329296	6498	30000											
ZNF398	57541	broad.mit.edu	37	chr7	148876569	148876569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcggctgcacacaggCgagcggcccttcagttgtcc	6	6	13	16	4	1	0	1	0	0	0	2	1	2	0	3	4	2	3	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148876569C>T	ENST00000420008.2	+	6	1880	c.1092C>T	c.(1090-1092)ggC>ggT	p.G364G	ZNF398_ENST00000483892.1_Silent_p.G364G|ZNF398_ENST00000475153.1_Silent_p.G535G|ZNF398_ENST00000540950.1_Silent_p.G540G|ZNF398_ENST00000491174.1_Silent_p.G364G|ZNF398_ENST00000426851.2_Silent_p.G364G|ZNF398_ENST00000335901.4_Silent_p.G364G	NM_170686.2	NP_733787.1	Q8TD17	ZN398_HUMAN	zinc finger protein 398	535					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)	25	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00143)			TGCACACAGGCGAGCGGCCCT	0.607													T	148876569	C	T	148876569	2	4	364	1	0	0	0	0	0	0	0	1	17986	755	27	1		1	ZNF398	7	148876569	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67202	148876569	10262094	6499	30001											
ZNF282	8427	broad.mit.edu	37	chr7	148909549	148909549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacagagatattcccaCggatcccaattcaggtgaga	13	7	11	10	1	1	3	1	1	0	3	3	6	3	4	2	3	0	1	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148909549C>T	ENST00000262085.3	+	6	1157	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ZNF282_ENST00000479907.1_Missense_Mutation_p.T351M	NM_003575.2	NP_003566.1	Q9UDV7	ZN282_HUMAN	zinc finger protein 282	351					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	17	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)	Lung(243;0.145)		GATATTCCCACGGATCCCAAT	0.433													T	148909549	C	T	148909549	3	4	364	1	0	0	0	0	1	0	0	0	17920	536	19	1	1074	1	ZNF282	7	148909549	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32980	148909549	10229114	6500	30002											
ZNF212	7988	broad.mit.edu	37	chr7	148947529	148947529	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgctggggaccctgctgCaggagtatgggctactgcag	6	8	16	11	1	0	0	0	0	0	0	0	2	0	2	2	4	5	6	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:148947529C>T	ENST00000335870.2	+	2	432	c.304C>T	c.(304-306)Cag>Tag	p.Q102*		NM_012256.3	NP_036388.2	Q9UDV6	ZN212_HUMAN	zinc finger protein 212	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|ovary(1)|prostate(1)	9	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00171)			GACCCTGCTGCAGGAGTATGG	0.652													T	148947529	C	T	148947529	4	4	364	1	0	0	0	0	0	1	0	0	17869	711	25	2	310	2	ZNF212	7	148947529	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37980	148947529	10191134	6501	30003											
ZNF777	27153	broad.mit.edu	37	chr7	149129626	149129626	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgccggaagctgatctcGcattcggcgcactcgtaggg	6	10	14	11	5	1	1	0	1	1	0	4	2	1	2	1	3	2	4	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149129626G>A	ENST00000247930.4	-	6	2060	c.1737C>T	c.(1735-1737)tgC>tgT	p.C579C		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	579					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			AGCTGATCTCGCATTCGGCGC	0.627													A	149129626	G	A	149129626	2	1	364	1	0	0	0	0	0	0	0	1	18249	1079	38	1		1	ZNF777	7	149129626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182097	149129626	10009037	6502	30004											
ZNF777	27153	broad.mit.edu	37	chr7	149152973	149152973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacggggaatggtgggAgacaaagaaggaatttcttt	12	10	14	5	1	1	3	0	1	1	2	1	6	1	5	1	5	0	0	1	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149152973A>G	ENST00000247930.4	-	2	464	c.141T>C	c.(139-141)tcT>tcC	p.S47S		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	47					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			GAATGGTGGGAGACAAAGAAG	0.557													G	149152973	A	G	149152973	2	3	364	1	0	0	0	0	0	0	0	1	18249	291	11	3		3	ZNF777	7	149152973	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23347	149152973	9985690	6503	30005											
ZNF746	155061	broad.mit.edu	37	chr7	149174013	149174013	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctctcgccacctgtacCttccgtggaggctgctgtgt	3	12	10	16	2	1	0	0	0	1	0	4	1	3	1	6	2	2	3	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149174013C>A	ENST00000340622.3	-	6	1118	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	ZNF746_ENST00000458143.2_Splice_Site_p.A280S			Q6NUN9	ZN746_HUMAN	zinc finger protein 746	280					negative regulation of transcription, DNA-dependent|neuron death|regulation of cell death|transcription, DNA-dependent	cytoplasm|nucleus	transcription regulatory region DNA binding|ubiquitin protein ligase binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			CCACCTGTACCTTCCGTGGAG	0.612													A	149174013	C	A	149174013	5	1	364	1	0	0	0	0	0	0	1	0	18229	695	24	4	1107	4	ZNF746	7	149174013	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21040	149174013	9964650	6504	30006											
SSPO	23145	broad.mit.edu	37	chr7	149479958	149479958	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgctggtcaatgggcagGatgtgggcttgccctggatt	5	12	16	8	0	1	0	1	0	0	0	1	2	1	2	1	5	2	3	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149479958G>T	ENST00000378016.2	+	0	1924							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CAATGGGCAGGATGTGGGCTT	0.652													T	149479958	G	T	149479958	1	4	364	0	1	0	0	0	0	0	0	0	15285	1174	41	4		4	SSPO	7	149479958	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305945	149479958	9658705	6505	30007											
SSPO	23145	broad.mit.edu	37	chr7	149481158	149481158	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtgtgccccccagcttgtgCccctgccagctcggagcccg	3	8	12	18	2	0	0	0	0	0	0	1	1	0	1	7	1	6	2	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149481158C>T	ENST00000378016.2	+	0	2640							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGCTTGTGCCCCTGCCAGC	0.642													T	149481158	C	T	149481158	1	4	364	0	1	0	0	0	0	0	0	0	15285	747	26	2		2	SSPO	7	149481158	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1200	149481158	9657505	6506	30008											
SSPO	23145	broad.mit.edu	37	chr7	149485905	149485905	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtgaggagcttgtgcctgCctgtgcagagggagaggccc	6	8	17	10	0	0	3	0	1	0	2	0	5	0	4	3	3	4	2	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149485905C>T	ENST00000378016.2	+	0	4124							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGTGCCTGCCTGTGCAGAG	0.612													T	149485905	C	T	149485905	1	4	364	0	1	0	0	0	0	0	0	0	15285	739	26	2		2	SSPO	7	149485905	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4747	149485905	9652758	6507	30009											
SSPO	23145	broad.mit.edu	37	chr7	149486406	149486406	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttgctggcctgtgccgAtggacgctgcctgccgccgg	2	8	17	14	4	0	0	0	0	0	0	0	2	0	1	5	4	4	3	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149486406A>G	ENST00000378016.2	+	0	4382							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCTGTGCCGATGGACGCTGC	0.677													G	149486406	A	G	149486406	1	3	364	0	1	0	0	0	0	0	0	0	15285	333	12	3		3	SSPO	7	149486406	RNA	SNP	A	TCGA-DU-6392-01A-11D-1705-08	501	149486406	9652257	6508	30010											
SSPO	23145	broad.mit.edu	37	chr7	149489043	149489043	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcccggaggcctgcacaGcacccgccagaccagtgagt	9	4	12	16	2	0	2	0	1	0	1	0	3	0	3	5	2	3	2	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149489043G>A	ENST00000378016.2	+	0	5384							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCTGCACAGCACCCGCCAG	0.657													A	149489043	G	A	149489043	1	1	364	0	1	0	0	0	0	0	0	0	15285	971	34	2		2	SSPO	7	149489043	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2637	149489043	9649620	6509	30011											
SSPO	23145	broad.mit.edu	37	chr7	149500075	149500075	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaggcctggggaccctgCagcgtctcctgcgggggtgg	3	7	20	11	2	1	0	0	0	1	0	2	2	1	2	3	7	3	1	3	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149500075C>T	ENST00000378016.2	+	0	7701							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGGGACCCTGCAGCGTCTCCT	0.672													T	149500075	C	T	149500075	1	4	364	0	1	0	0	0	0	0	0	0	15285	718	25	2		2	SSPO	7	149500075	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11032	149500075	9638588	6510	30012											
SSPO	23145	broad.mit.edu	37	chr7	149508800	149508800	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcctggccttgtgCggagggtaaggaagcgtccc	6	8	15	12	2	0	0	0	0	0	0	2	2	2	2	3	4	4	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149508800C>T	ENST00000378016.2	+	0	9539							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGCCTTGTGCGGAGGGTAAG	0.642													T	149508800	C	T	149508800	1	4	364	0	1	0	0	0	0	0	0	0	15285	768	27	1		1	SSPO	7	149508800	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8725	149508800	9629863	6511	30013											
SSPO	23145	broad.mit.edu	37	chr7	149509032	149509032	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccctggaccccttggaGccagtgttcagcctcctgtg	5	10	11	15	0	2	0	2	0	0	0	3	2	3	2	6	2	2	1	6	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149509032G>A	ENST00000378016.2	+	0	9578							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCCCTTGGAGCCAGTGTTCA	0.682													A	149509032	G	A	149509032	1	1	364	0	1	0	0	0	0	0	0	0	15285	971	34	2		2	SSPO	7	149509032	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	232	149509032	9629631	6512	30014											
SSPO	23145	broad.mit.edu	37	chr7	149519666	149519666	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggtgctggtgcagcagCgctaccgacaccagggcccg	6	4	16	15	4	0	0	0	0	0	0	0	1	0	0	4	3	5	4	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:149519666C>T	ENST00000378016.2	+	0	13156							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGTGCAGCAGCGCTACCGACA	0.697													T	149519666	C	T	149519666	1	4	364	0	1	0	0	0	0	0	0	0	15285	768	27	1		1	SSPO	7	149519666	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10634	149519666	9618997	6513	30015											
ZNF775	285971	broad.mit.edu	37	chr7	150094418	150094418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccgcgccagttcatctgCaacgagtgtggcaagagctt	9	8	13	11	3	2	1	1	0	1	1	2	3	2	1	2	1	4	4	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150094418C>T	ENST00000329630.5	+	3	956	c.849C>T	c.(847-849)tgC>tgT	p.C283C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTTCATCTGCAACGAGTGTG	0.741													T	150094418	C	T	150094418	2	4	364	1	0	0	0	0	0	0	0	1	18247	718	25	2		2	ZNF775	7	150094418	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	574752	150094418	9044245	6514	30016											
GIMAP8	155038	broad.mit.edu	37	chr7	150174255	150174255	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactctatcctggggagccTcgtcttcacctctcggctcc	5	11	9	16	2	4	0	1	0	3	0	8	2	6	1	4	3	2	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174255T>C	ENST00000307271.3	+	5	1959	c.1385T>C	c.(1384-1386)cTc>cCc	p.L462P		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	462						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		CTGGGGAGCCTCGTCTTCACC	0.587													C	150174255	T	C	150174255	3	2	364	1	0	0	0	0	1	0	0	0	6441	1551	54	3	1399	3	GIMAP8	7	150174255	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79837	150174255	8964408	6515	30017											
GIMAP8	155038	broad.mit.edu	37	chr7	150174764	150174764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaaagtgggtggtccGggtatccccatacacaggag	13	6	14	8	1	0	1	0	0	0	1	2	3	2	2	3	4	1	1	3	4	5	2	rs144516226	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150174764G>A	ENST00000307271.3	+	5	2468	c.1894G>A	c.(1894-1896)Ggg>Agg	p.G632R		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	632						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGGTGGTCCGGGTATCCCCA	0.403													A	150174764	G	A	150174764	3	1	364	1	0	0	0	0	1	0	0	0	6441	1116	39	1	1908	1	GIMAP8	7	150174764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	509	150174764	8963899	6516	30018											
GIMAP4	55303	broad.mit.edu	37	chr7	150269743	150269743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacaacaaggcaacaggCgctgagcaggaggcccagag	15	3	13	10	1	0	2	0	1	0	1	0	3	0	3	1	4	4	3	1	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150269743C>T	ENST00000255945.2	+	3	760	c.585C>T	c.(583-585)ggC>ggT	p.G195G	GIMAP4_ENST00000461940.1_Silent_p.G209G|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	195							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCAACAGGCGCTGAGCAGG	0.522													T	150269743	C	T	150269743	2	4	364	1	0	0	0	0	0	0	0	1	6437	755	27	1		1	GIMAP4	7	150269743	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94979	150269743	8868920	6517	30019											
GIMAP4	55303	broad.mit.edu	37	chr7	150270110	150270110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatgacagcgttacagattGcttcctttattttgttacgt	8	18	7	8	2	1	2	1	1	0	1	2	2	2	2	1	0	4	3	1	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150270110G>A	ENST00000255945.2	+	3	1127	c.952G>A	c.(952-954)Gct>Act	p.A318T	GIMAP4_ENST00000461940.1_Missense_Mutation_p.A332T	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	318							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTTACAGATTGCTTCCTTTAT	0.408													A	150270110	G	A	150270110	3	1	364	1	0	0	0	0	1	0	0	0	6437	1319	46	2	958	2	GIMAP4	7	150270110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367	150270110	8868553	6518	30020											
GIMAP6	474344	broad.mit.edu	37	chr7	150325355	150325355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgatggcttggcagatagCgtctgccacctctggcgaga	8	8	14	11	3	2	2	0	0	2	2	2	5	2	2	2	3	2	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150325355C>T	ENST00000328902.5	-	3	547	c.331G>A	c.(331-333)Gct>Act	p.A111T	GIMAP6_ENST00000493969.1_Missense_Mutation_p.R36H	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	111							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGATAGCGTCTGCCACC	0.627													T	150325355	C	T	150325355	3	4	364	1	0	0	0	0	1	0	0	0	6439	768	27	1	551	1	GIMAP6	7	150325355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55245	150325355	8813308	6519	30021											
GIMAP6	474344	broad.mit.edu	37	chr7	150327221	150327221	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatttgttcatattcttCttcctccatctacaaaaaaa	13	15	4	9	0	4	0	1	0	3	0	6	1	6	1	2	1	1	1	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150327221C>A	ENST00000328902.5	-	2	226	c.10G>T	c.(10-12)Gaa>Taa	p.E4*	GIMAP6_ENST00000493969.1_Nonsense_Mutation_p.E4*	NM_001244072.1|NM_024711.5	NP_001231001.1|NP_078987.3	Q6P9H5	GIMA6_HUMAN	GTPase, IMAP family member 6	4							GTP binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCATATTCTTCTTCCTCCATC	0.433													A	150327221	C	A	150327221	4	1	364	1	0	0	0	0	0	1	0	0	6439	922	32	4	876	4	GIMAP6	7	150327221	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1866	150327221	8811442	6520	30022											
GIMAP1	170575	broad.mit.edu	37	chr7	150417359	150417359	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actccggacattttcagctcCcaagtgtccaagacagatcc	11	9	7	14	1	1	2	1	0	0	2	5	3	5	3	4	1	1	1	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417359C>T	ENST00000307194.5	+	3	407	c.267C>T	c.(265-267)tcC>tcT	p.S89S		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TTTTCAGCTCCCAAGTGTCCA	0.652													T	150417359	C	T	150417359	2	4	364	1	0	0	0	0	0	0	0	1	6435	610	22	2		2	GIMAP1	7	150417359	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90138	150417359	8721304	6521	30023											
GIMAP1	170575	broad.mit.edu	37	chr7	150417510	150417510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgagggacatgttcGgggaggacgtcctaaaatgg	10	7	18	6	2	0	1	0	1	0	0	2	4	1	4	1	7	0	2	1	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150417510G>A	ENST00000307194.5	+	3	558	c.418G>A	c.(418-420)Ggg>Agg	p.G140R		NM_130759.3	NP_570115.1			GTPase, IMAP family member 1											NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGACATGTTCGGGGAGGACGT	0.652													A	150417510	G	A	150417510	3	1	364	1	0	0	0	0	1	0	0	0	6435	1116	39	1	424	1	GIMAP1	7	150417510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151	150417510	8721153	6522	30024											
GIMAP5	55340	broad.mit.edu	37	chr7	150439967	150439967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agactacaggcagtaccaggCcaaagtggaatggcaggtgg	13	5	15	8	0	0	1	0	0	0	1	0	2	0	2	2	6	2	3	2	6	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150439967C>T	ENST00000358647.3	+	3	1107	c.740C>T	c.(739-741)gCc>gTc	p.A247V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGTACCAGGCCAAAGTGGAA	0.552													T	150439967	C	T	150439967	3	4	364	1	0	0	0	0	1	0	0	0	6438	739	26	2	746	2	GIMAP5	7	150439967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22457	150439967	8698696	6523	30025											
TMEM176B	28959	broad.mit.edu	37	chr7	150490258	150490258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcatccatctgtacccagtgGtagggaagacagggtctgag	10	8	14	9	0	2	2	0	1	2	1	3	3	3	3	2	3	1	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490258G>A	ENST00000447204.2	-	5	890	c.518C>T	c.(517-519)aCc>aTc	p.T173I	TMEM176B_ENST00000450753.2_Missense_Mutation_p.T136I|TMEM176B_ENST00000492607.1_Missense_Mutation_p.T173I|TMEM176B_ENST00000429904.2_Missense_Mutation_p.T173I|TMEM176B_ENST00000326442.5_Missense_Mutation_p.T173I|TMEM176B_ENST00000434545.1_Missense_Mutation_p.T173I	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	173					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACCCAGTGGTAGGGAAGAC	0.507													A	150490258	G	A	150490258	3	1	364	1	0	0	0	0	1	0	0	0	16193	1261	44	2	306	2	TMEM176B	7	150490258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50291	150490258	8648405	6524	30026											
TMEM176B	28959	broad.mit.edu	37	chr7	150490279	150490279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggaagacagggtctgagCgatcacacacagtgtcgatg	12	7	14	8	2	2	2	1	1	1	1	3	5	2	3	0	2	1	0	0	2	2	1	rs144557912		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150490279C>T	ENST00000447204.2	-	5	869	c.497G>A	c.(496-498)cGc>cAc	p.R166H	TMEM176B_ENST00000450753.2_Missense_Mutation_p.R129H|TMEM176B_ENST00000492607.1_Missense_Mutation_p.R166H|TMEM176B_ENST00000429904.2_Missense_Mutation_p.R166H|TMEM176B_ENST00000326442.5_Missense_Mutation_p.R166H|TMEM176B_ENST00000434545.1_Missense_Mutation_p.R166H	NM_014020.3	NP_054739.3	Q3YBM2	T176B_HUMAN	transmembrane protein 176B	166					cell differentiation|organ morphogenesis	integral to membrane|nuclear membrane				cervix(1)|large_intestine(4)|lung(10)|ovary(1)|skin(3)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGGTCTGAGCGATCACACAC	0.507													T	150490279	C	T	150490279	3	4	364	1	0	0	0	0	1	0	0	0	16193	768	27	1	327	1	TMEM176B	7	150490279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	150490279	8648384	6525	30027											
KCNH2	3757	broad.mit.edu	37	chr7	150649611	150649611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtggacggcgatgcggcCggggtggctgaccacctcct	5	7	17	12	4	0	1	0	1	0	0	1	3	1	2	4	6	1	2	4	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150649611C>T	ENST00000392968.2	-	4	2291	c.1171G>A	c.(1171-1173)Ggc>Agc	p.G391S	KCNH2_ENST00000330883.4_Missense_Mutation_p.G147S|KCNH2_ENST00000262186.5_Missense_Mutation_p.G487S|KCNH2_ENST00000430723.3_Missense_Mutation_p.G487S			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	487					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	GCGATGCGGCCGGGGTGGCTG	0.587													T	150649611	C	T	150649611	3	4	364	1	0	0	0	0	1	0	0	0	8090	652	23	1	2329	1	KCNH2	7	150649611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159332	150649611	8489052	6526	30028											
KCNH2	3757	broad.mit.edu	37	chr7	150656821	150656821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccagacataggaagcagCtccctgcagagtgggaggac	12	4	13	12	0	0	2	0	0	0	2	1	5	1	5	3	3	3	3	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150656821C>A	ENST00000392968.2	-	1	1143	c.23G>T	c.(22-24)aGc>aTc	p.S8I	KCNH2_ENST00000262186.5_Missense_Mutation_p.S104I|KCNH2_ENST00000430723.3_Missense_Mutation_p.S104I			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	104					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	TAGGAAGCAGCTCCCTGCAGA	0.582													A	150656821	C	A	150656821	3	1	364	1	0	0	0	0	1	0	0	0	8090	797	28	4	3601	4	KCNH2	7	150656821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7210	150656821	8481842	6527	30029											
NOS3	4846	broad.mit.edu	37	chr7	150698337	150698337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctagccaaagtcaccatcGtggaccaccacgccgccacg	11	4	9	17	4	1	0	1	0	0	0	2	1	1	1	6	1	2	1	6	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150698337G>A	ENST00000297494.3	+	11	1609	c.1252G>A	c.(1252-1254)Gtg>Atg	p.V418M	NOS3_ENST00000467517.1_Missense_Mutation_p.V418M|NOS3_ENST00000484524.1_Missense_Mutation_p.V418M|NOS3_ENST00000461406.1_Missense_Mutation_p.V212M	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	418	Interaction with NOSIP.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	AGTCACCATCGTGGACCACCA	0.637													A	150698337	G	A	150698337	3	1	364	1	0	0	0	0	1	0	0	0	10620	1145	40	1	1290	1	NOS3	7	150698337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41516	150698337	8440326	6528	30030											
NOS3	4846	broad.mit.edu	37	chr7	150706122	150706122	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggtaccggctgagcgcCcaggccgagggcctgcagtt	7	5	16	13	3	0	2	0	1	0	1	0	3	0	2	4	4	3	4	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150706122C>A	ENST00000297494.3	+	18	2574	c.2217C>A	c.(2215-2217)gcC>gcA	p.A739A	NOS3_ENST00000461406.1_Silent_p.A533A	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	739					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GGCTGAGCGCCCAGGCCGAGG	0.672											OREG0018442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	150706122	C	A	150706122	2	1	364	1	0	0	0	0	0	0	0	1	10620	610	22	4		4	NOS3	7	150706122	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7785	150706122	8432541	6529	30031											
NOS3	4846	broad.mit.edu	37	chr7	150710953	150710953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagcgcatcctggcgAcggagggcgacatggagctg	7	5	17	12	5	0	0	0	0	0	0	1	4	1	2	2	4	3	3	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150710953A>G	ENST00000297494.3	+	26	3754	c.3397A>G	c.(3397-3399)Acg>Gcg	p.T1133A	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_3'UTR|ATG9B_ENST00000494791.1_5'UTR|NOS3_ENST00000461406.1_Missense_Mutation_p.T927A|ATG9B_ENST00000377974.2_3'UTR	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1133					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CATCCTGGCGACGGAGGGCGA	0.697													G	150710953	A	G	150710953	3	3	364	1	0	0	0	0	1	0	0	0	10620	275	10	3	3777	3	NOS3	7	150710953	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4831	150710953	8427710	6530	30032											
NOS3	4846	broad.mit.edu	37	chr7	150711138	150711138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattttcgggctcacgctgCgcacccaggaggtgacaagc	9	7	12	13	3	1	1	1	1	0	0	2	2	1	2	1	3	2	3	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150711138C>T	ENST00000297494.3	+	27	3850	c.3493C>T	c.(3493-3495)Cgc>Tgc	p.R1165C	NOS3_ENST00000477227.1_3'UTR|ATG9B_ENST00000605938.1_Intron|ATG9B_ENST00000444312.1_Intron|ATG9B_ENST00000494791.1_Intron|NOS3_ENST00000461406.1_Missense_Mutation_p.R959C|ATG9B_ENST00000377974.2_Intron	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	1165					anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	GCTCACGCTGCGCACCCAGGA	0.617													T	150711138	C	T	150711138	3	4	364	1	0	0	0	0	1	0	0	0	10620	768	27	1	3877	1	NOS3	7	150711138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185	150711138	8427525	6531	30033											
ATG9B	285973	broad.mit.edu	37	chr7	150713794	150713794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctggggtcctgggcaattCgggaaatggaggcaaggagg	10	6	18	7	1	0	0	0	0	0	0	2	3	1	3	2	8	0	2	2	8	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150713794C>T	ENST00000377974.2	-	11	2477	c.2402G>A	c.(2401-2403)cGa>cAa	p.R801Q	ATG9B_ENST00000605938.1_3'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.R287Q|ATG9B_ENST00000494791.1_5'UTR			Q674R7	ATG9B_HUMAN	autophagy related 9B	802					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGGGCAATTCGGGAAATGGA	0.662													T	150713794	C	T	150713794	3	4	364	1	0	0	0	0	1	0	0	0	1108	893	31	1	385	1	ATG9B	7	150713794	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2656	150713794	8424869	6532	30034											
ATG9B	285973	broad.mit.edu	37	chr7	150714129	150714129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggactcaccaggggCgaggtgcagttgctgagcac	7	7	17	10	1	1	1	1	1	0	0	1	3	1	2	1	5	3	5	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714129C>T	ENST00000605938.1	-	9	2358	c.2283G>A	c.(2281-2283)tcG>tcA	p.S761S	ATG9B_ENST00000444312.1_Silent_p.S247S|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Silent_p.S761S	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	761					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCACCAGGGGCGAGGTGCAGT	0.652													T	150714129	C	T	150714129	2	4	364	1	0	0	0	0	0	0	0	1	1108	755	27	1		1	ATG9B	7	150714129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335	150714129	8424534	6533	30035											
ATG9B	285973	broad.mit.edu	37	chr7	150714325	150714325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtcctccgcacgctgaGacagcgaggcctcagtctgt	6	8	12	15	4	2	1	1	1	1	1	4	3	4	1	4	1	2	2	4	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150714325G>T	ENST00000605938.1	-	9	2162	c.2087C>A	c.(2086-2088)tCt>tAt	p.S696Y	ATG9B_ENST00000444312.1_Missense_Mutation_p.S182Y|ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000377974.2_Missense_Mutation_p.S696Y	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	696					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CGCACGCTGAGACAGCGAGGC	0.592													T	150714325	G	T	150714325	3	4	364	1	0	0	0	0	1	0	0	0	1108	942	33	4	706	4	ATG9B	7	150714325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196	150714325	8424338	6534	30036											
ABCB8	11194	broad.mit.edu	37	chr7	150739132	150739132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaggtgtacacagccGcccgggaagcgaatgctcac	12	5	13	11	3	1	2	1	1	0	1	1	4	1	3	2	2	4	2	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150739132G>A	ENST00000358849.4	+	14	1795	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	ABCB8_ENST00000542328.1_Missense_Mutation_p.A480T|ABCB8_ENST00000297504.6_Missense_Mutation_p.A585T|ABCB8_ENST00000356058.4_3'UTR|ABCB8_ENST00000498578.1_Missense_Mutation_p.A568T	NM_001282291.1|NM_001282293.1|NM_007188.3	NP_001269220.1|NP_001269222.1|NP_009119.2	Q9NUT2	ABCB8_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 8	585	ABC transporter.					ATP-binding cassette (ABC) transporter complex|integral to membrane|membrane fraction|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTACACAGCCGCCCGGGAAGC	0.607													A	150739132	G	A	150739132	3	1	364	1	0	0	0	0	1	0	0	0	47	1087	38	1	1756	1	ABCB8	7	150739132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24807	150739132	8399531	6535	30037											
SLC4A2	6522	broad.mit.edu	37	chr7	150771489	150771489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctgcccactcagatcCggcgggtgattggggacttt	5	11	14	11	2	1	2	1	1	0	1	2	3	2	3	3	4	2	0	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150771489C>T	ENST00000485713.1	+	18	3834	c.2794C>T	c.(2794-2796)Cgg>Tgg	p.R932W	SLC4A2_ENST00000310317.5_Missense_Mutation_p.R850W|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R923W|SLC4A2_ENST00000461735.1_Missense_Mutation_p.R918W|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R932W	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	932	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACTCAGATCCGGCGGGTGAT	0.602													T	150771489	C	T	150771489	3	4	364	1	0	0	0	0	1	0	0	0	14748	643	23	1	2860	1	SLC4A2	7	150771489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32357	150771489	8367174	6536	30038											
SLC4A2	6522	broad.mit.edu	37	chr7	150772400	150772400	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccggcttccacctggacCtgctgctcatcgtggccatg	4	10	11	16	2	1	0	1	0	0	0	4	1	3	1	5	3	2	4	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150772400C>A	ENST00000485713.1	+	20	4146	c.3106C>A	c.(3106-3108)Ctg>Atg	p.L1036M	SLC4A2_ENST00000310317.5_Missense_Mutation_p.L954M|SLC4A2_ENST00000392826.2_Missense_Mutation_p.L1027M|SLC4A2_ENST00000461735.1_Missense_Mutation_p.L1022M|SLC4A2_ENST00000413384.2_Missense_Mutation_p.L1036M|RP11-148K1.12_ENST00000485974.1_RNA	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	1036	Membrane (anion exchange).				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCACCTGGACCTGCTGCTCAT	0.647													A	150772400	C	A	150772400	3	1	364	1	0	0	0	0	1	0	0	0	14748	680	24	4	3180	4	SLC4A2	7	150772400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	911	150772400	8366263	6537	30039											
AGAP3	116988	broad.mit.edu	37	chr7	150840969	150840969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagcgcctacccccaacaGagagcctgccaatggcacca	11	5	8	17	1	0	1	0	0	0	1	0	2	0	1	6	1	5	1	6	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150840969G>A	ENST00000397238.2	+	18	2675	c.2675G>A	c.(2674-2676)aGa>aAa	p.R892K	AGAP3_ENST00000463381.1_Missense_Mutation_p.R561K	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	856					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						ACCCCCAACAGAGAGCCTGCC	0.632													A	150840969	G	A	150840969	3	1	364	1	0	0	0	0	1	0	0	0	369	942	33	2	2812	2	AGAP3	7	150840969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68569	150840969	8297694	6538	30040											
GBX1	2636	broad.mit.edu	37	chr7	150846052	150846052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagctccagtccccaggCttccctttagcttcggttta	5	13	7	16	1	1	0	1	0	0	0	5	0	4	0	5	2	2	4	5	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150846052C>A	ENST00000297537.4	-	2	715	c.716G>T	c.(715-717)aGc>aTc	p.S239I		NM_001098834.1	NP_001092304.1	Q14549	GBX1_HUMAN	gastrulation brain homeobox 1	239						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(5)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTCCCCAGGCTTCCCTTTAG	0.642													A	150846052	C	A	150846052	3	1	364	1	0	0	0	0	1	0	0	0	6334	797	28	4	378	4	GBX1	7	150846052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5083	150846052	8292611	6539	30041											
ABCF2	10061	broad.mit.edu	37	chr7	150921061	150921061	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctctttctccagcatggcCcgctctgtgtcgacttccat	4	13	8	16	2	3	0	0	0	3	0	6	1	4	0	4	1	1	2	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921061C>A	ENST00000287844.2	-	4	616	c.507G>T	c.(505-507)cgG>cgT	p.R169R	ABCF2_ENST00000222388.2_Silent_p.R169R	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	169	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCAGCATGGCCCGCTCTGTGT	0.597													A	150921061	C	A	150921061	2	1	364	1	0	0	0	0	0	0	0	1	66	610	22	4		4	ABCF2	7	150921061	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75009	150921061	8217602	6540	30042											
ABCF2	10061	broad.mit.edu	37	chr7	150921997	150921997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtactgttggggtgagaggCcaggacgccagtgacagctc	9	7	16	9	1	0	2	0	2	0	1	1	4	0	3	2	4	2	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150921997C>T	ENST00000287844.2	-	3	341	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	ABCF2_ENST00000222388.2_Missense_Mutation_p.A78T	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	78						ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTGAGAGGCCAGGACGCCA	0.483													T	150921997	C	T	150921997	3	4	364	1	0	0	0	0	1	0	0	0	66	739	26	2	1732	2	ABCF2	7	150921997	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	936	150921997	8216666	6541	30043											
CHPF2	54480	broad.mit.edu	37	chr7	150932416	150932416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactggttcttcatcatgcaGgatgacacatatgtgcaggc	10	11	11	9	0	3	1	2	1	1	0	3	3	3	2	0	3	2	3	0	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150932416G>T	ENST00000035307.2	+	2	2059	c.546G>T	c.(544-546)caG>caT	p.Q182H	CHPF2_ENST00000495645.1_Missense_Mutation_p.Q174H	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	182						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						TCATCATGCAGGATGACACAT	0.602													T	150932416	G	T	150932416	3	4	364	1	0	0	0	0	1	0	0	0	3399	991	35	4	552	4	CHPF2	7	150932416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10419	150932416	8206247	6542	30044											
CHPF2	54480	broad.mit.edu	37	chr7	150935111	150935111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcggagttagagcgaCggtaccctgggacgaggctg	9	5	17	10	4	0	1	0	0	0	1	0	5	0	3	1	4	4	4	1	4	2	2	rs139831103		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150935111C>T	ENST00000035307.2	+	4	3176	c.1663C>T	c.(1663-1665)Cgg>Tgg	p.R555W	CHPF2_ENST00000495645.1_Missense_Mutation_p.R547W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	555						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						GTTAGAGCGACGGTACCCTGG	0.632													T	150935111	C	T	150935111	3	4	364	1	0	0	0	0	1	0	0	0	3399	527	19	1	1677	1	CHPF2	7	150935111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2695	150935111	8203552	6543	30045											
SMARCD3	6604	broad.mit.edu	37	chr7	150972252	150972252	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcatagatggcagggtcCtgcacctggagagtcatcca	10	8	13	10	0	2	2	2	0	0	2	4	4	4	2	3	3	1	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:150972252C>A	ENST00000392811.2	-	0	461				SMARCD3_ENST00000356800.2_De_novo_Start_InFrame	NM_003078.3	NP_003069.2	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3						cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGGCAGGGTCCTGCACCTGGA	0.652													A	150972252	C	A	150972252	1	1	364	1	0	0	0	0	0	0	0	0	14873	696	24	4		4	SMARCD3	7	150972252	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37141	150972252	8166411	6544	30046											
NUB1	51667	broad.mit.edu	37	chr7	151065934	151065934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagggcgtgtgatgggaaCgtggatcatgcggccactca	8	8	16	9	3	2	2	2	2	0	0	2	4	2	4	1	4	2	0	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151065934C>T	ENST00000568733.1	+	11	1347	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	NUB1_ENST00000355851.4_Silent_p.N403N|NUB1_ENST00000566856.1_Silent_p.N403N|NUB1_ENST00000413040.2_Silent_p.N427N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	403	NEDD8-binding 1.|UBA 2.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		GTGATGGGAACGTGGATCATG	0.473													T	151065934	C	T	151065934	2	4	364	1	0	0	0	0	0	0	0	1	10790	535	19	1		1	NUB1	7	151065934	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93682	151065934	8072729	6545	30047											
CRYGN	155051	broad.mit.edu	37	chr7	151133382	151133382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtgaagttgcaaccctcGaagatttctaggcggaaatg	11	9	11	10	3	1	2	0	1	1	1	2	4	1	3	2	2	2	2	2	2	5	3	rs113942095	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151133382G>A	ENST00000337323.2	-	3	426	c.300C>T	c.(298-300)ttC>ttT	p.F100F	CRYGN_ENST00000491928.1_Intron|RP4-555L14.4_ENST00000465549.1_RNA|CRYGN_ENST00000476631.1_5'UTR	NM_144727.1	NP_653328.1	Q8WXF5	CRGN_HUMAN	crystallin, gamma N	100	Beta/gamma crystallin 'Greek key' 3.									central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(1)|lung(4)	8			OV - Ovarian serous cystadenocarcinoma(82;0.00358)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAACCCTCGAAGATTTCTA	0.537													A	151133382	G	A	151133382	2	1	364	1	0	0	0	0	0	0	0	1	3949	1049	37	1		1	CRYGN	7	151133382	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67448	151133382	8005281	6546	30048											
PRKAG2	51422	broad.mit.edu	37	chr7	151265822	151265822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagctggaggaacttgaGgattcttttgtgggtaagta	13	12	13	3	0	1	1	0	1	1	0	1	4	1	4	0	4	2	3	0	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151265822G>T	ENST00000287878.4	-	11	1717	c.1213C>A	c.(1213-1215)Ctc>Atc	p.L405I	PRKAG2_ENST00000433631.2_Missense_Mutation_p.L280I|PRKAG2_ENST00000418337.2_Missense_Mutation_p.L164I|PRKAG2_ENST00000492843.1_Missense_Mutation_p.L281I|PRKAG2_ENST00000392801.2_Missense_Mutation_p.L361I	NM_016203.3	NP_057287.2	Q9UGJ0	AAKG2_HUMAN	protein kinase, AMP-activated, gamma 2 non-catalytic subunit	405	CBS 2.				ATP biosynthetic process|carnitine shuttle|cell cycle arrest|fatty acid biosynthetic process|glycogen metabolic process|insulin receptor signaling pathway|intracellular protein kinase cascade|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein kinase activity|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation|regulation of glucose import|regulation of glycolysis|sterol biosynthetic process	AMP-activated protein kinase complex|cytosol|nucleoplasm	ADP binding|ATP binding|cAMP-dependent protein kinase inhibitor activity|cAMP-dependent protein kinase regulator activity|phosphorylase kinase regulator activity|protein kinase activator activity|protein kinase binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|upper_aerodigestive_tract(1)	26	all_neural(206;0.187)	all_hematologic(28;0.0605)	OV - Ovarian serous cystadenocarcinoma(82;0.00252)	UCEC - Uterine corpus endometrioid carcinoma (81;0.185)		AGGAACTTGAGGATTCTTTTG	0.343													T	151265822	G	T	151265822	3	4	364	1	0	0	0	0	1	0	0	0	12587	1000	35	4	520	4	PRKAG2	7	151265822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132440	151265822	7872841	6547	30049											
GALNT11	63917	broad.mit.edu	37	chr7	151805282	151805282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgtcccctgtcgtccGcggagggttcaactggggac	5	8	14	14	4	1	0	1	0	0	0	5	2	3	2	3	4	2	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151805282G>A	ENST00000434507.1	+	8	1309	c.872G>A	c.(871-873)cGc>cAc	p.R291H	GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.R291H|GALNT11_ENST00000452146.2_Missense_Mutation_p.R210H|GALNT11_ENST00000320311.2_Missense_Mutation_p.R291H			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	291						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CCTGTCGTCCGCGGAGGGTTC	0.602													A	151805282	G	A	151805282	3	1	364	1	0	0	0	0	1	0	0	0	6263	1087	38	1	890	1	GALNT11	7	151805282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	539460	151805282	7333381	6548	30050											
GALNT11	63917	broad.mit.edu	37	chr7	151807673	151807673	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttccatgaacttggAcagtatgatagtggcatgga	12	12	11	6	0	0	2	0	2	0	0	1	4	1	4	1	3	1	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:151807673A>G	ENST00000434507.1	+	9	1460	c.1023A>G	c.(1021-1023)ggA>ggG	p.G341G	GALNT11_ENST00000430044.2_Silent_p.G341G|GALNT11_ENST00000452146.2_Silent_p.G260G|GALNT11_ENST00000320311.2_Silent_p.G341G			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	341	Catalytic subdomain B.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		ATGAACTTGGACAGTATGATA	0.368													G	151807673	A	G	151807673	2	3	364	1	0	0	0	0	0	0	0	1	6263	262	10	3		3	GALNT11	7	151807673	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2391	151807673	7330990	6549	30051											
XRCC2	7516	broad.mit.edu	37	chr7	152346195	152346195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaagtgtaagaagtaaGtgggtgctactactgcagta	14	10	13	4	0	0	1	0	0	0	1	0	2	0	1	0	1	4	6	0	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152346195G>A	ENST00000359321.1	-	3	460	c.375C>T	c.(373-375)caC>caT	p.H125H	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	125					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TAAGAAGTAAGTGGGTGCTAC	0.388								Homologous recombination					A	152346195	G	A	152346195	2	1	364	1	0	0	0	0	0	0	0	1	17555	1020	36	2		2	XRCC2	7	152346195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538522	152346195	6792468	6550	30052											
XRCC2	7516	broad.mit.edu	37	chr7	152357857	152357857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacttctaccttcaagtCgggcaaggagcttataaaag	14	9	10	8	1	2	0	1	0	1	0	3	2	2	2	1	3	3	2	1	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152357857C>T	ENST00000359321.1	-	2	135	c.50G>A	c.(49-51)cGa>cAa	p.R17Q	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	17					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		ACCTTCAAGTCGGGCAAGGAG	0.308								Homologous recombination					T	152357857	C	T	152357857	3	4	364	1	0	0	0	0	1	0	0	0	17555	884	31	1	800	1	XRCC2	7	152357857	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11662	152357857	6780806	6551	30053											
ACTR3B	57180	broad.mit.edu	37	chr7	152517446	152517446	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcaggtagagatattacGtatttcattcaacagctgct	12	14	8	7	1	2	1	2	0	0	1	2	2	2	1	0	1	5	5	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:152517446G>A	ENST00000256001.8	+	7	737	c.603G>A	c.(601-603)acG>acA	p.T201T	ACTR3B_ENST00000537264.1_Silent_p.T113T|ACTR3B_ENST00000397282.2_Silent_p.T113T|ACTR3B_ENST00000377776.3_Silent_p.T201T	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	201					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		GAGATATTACGTATTTCATTC	0.468													A	152517446	G	A	152517446	2	1	364	1	0	0	0	0	0	0	0	1	213	1132	40	1		1	ACTR3B	7	152517446	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159589	152517446	6621217	6552	30054											
DPP6	1804	broad.mit.edu	37	chr7	154143357	154143357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaatagcaattgcactgcTtgtcattctggtcatctgct	9	14	9	9	0	4	0	2	0	2	0	4	1	4	1	0	2	4	4	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154143357T>C	ENST00000404039.1	+	2	697	c.110T>C	c.(109-111)cTt>cCt	p.L37P	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Missense_Mutation_p.L39P|DPP6_ENST00000332007.3_Missense_Mutation_p.L39P|DPP6_ENST00000406326.1_Missense_Mutation_p.L101P|DPP6_ENST00000377770.3_Missense_Mutation_p.L101P	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	101					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			ATTGCACTGCTTGTCATTCTG	0.458													C	154143357	T	C	154143357	3	2	364	1	0	0	0	0	1	0	0	0	4769	1609	56	3	424	3	DPP6	7	154143357	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1625911	154143357	4995306	6553	30055											
DPP6	1804	broad.mit.edu	37	chr7	154172024	154172024	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctttttatttttttctagCggaagataatagtctgtctc	8	20	7	6	1	3	1	0	0	3	1	4	2	3	2	0	1	2	1	0	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154172024C>T	ENST00000404039.1	+	3	754	c.167C>T	c.(166-168)gCg>gTg	p.A56V	DPP6_ENST00000496611.1_3'UTR|DPP6_ENST00000427557.1_Splice_Site_p.A58V|DPP6_ENST00000332007.3_Splice_Site_p.A58V|DPP6_ENST00000406326.1_Splice_Site_p.A120V|DPP6_ENST00000377770.3_Splice_Site_p.A120V	NM_001039350.1|NM_001936.3|NM_130797.2	NP_001034439.1|NP_001927.3|NP_570629.2	P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	120					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			TTTTTTCTAGCGGAAGATAAT	0.343													T	154172024	C	T	154172024	5	4	364	1	0	0	0	0	0	0	1	0	4769	782	27	1	485	1	DPP6	7	154172024	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28667	154172024	4966639	6554	30056											
PAXIP1	22976	broad.mit.edu	37	chr7	154767645	154767645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccctgaggcagcctgcGttttgctgcagctaactgtg	5	13	11	12	1	0	1	0	1	0	0	1	1	1	1	2	1	6	5	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154767645G>A	ENST00000404141.1	-	6	989	c.835C>T	c.(835-837)Cgc>Tgc	p.R279C	PAXIP1_ENST00000473219.1_5'UTR|PAXIP1_ENST00000397192.1_Missense_Mutation_p.R279C			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	279					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		GGCAGCCTGCGTTTTGCTGCA	0.498													A	154767645	G	A	154767645	3	1	364	1	0	0	0	0	1	0	0	0	11563	1145	40	1	2438	1	PAXIP1	7	154767645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	595621	154767645	4371018	6555	30057											
HTR5A	3361	broad.mit.edu	37	chr7	154863181	154863181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactctgagggcagcgaggAgtgccaggtaagccgcgagc	9	5	17	10	3	1	1	0	1	1	0	1	4	1	2	2	3	5	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863181A>G	ENST00000287907.2	+	1	1148	c.572A>G	c.(571-573)gAg>gGg	p.E191G	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	191						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GGCAGCGAGGAGTGCCAGGTA	0.607													G	154863181	A	G	154863181	3	3	364	1	0	0	0	0	1	0	0	0	7508	304	11	3	574	3	HTR5A	7	154863181	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	95536	154863181	4275482	6556	30058											
HTR5A	3361	broad.mit.edu	37	chr7	154863210	154863210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagccgcgagccttcctacGccgtgttctccaccgtaggc	6	9	10	16	5	1	0	0	0	1	0	3	1	2	0	6	1	3	2	6	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:154863210G>A	ENST00000287907.2	+	1	1177	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	HTR5A-AS1_ENST00000395731.2_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000543018.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	201						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GCCTTCCTACGCCGTGTTCTC	0.612													A	154863210	G	A	154863210	3	1	364	1	0	0	0	0	1	0	0	0	7508	1087	38	1	603	1	HTR5A	7	154863210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	154863210	4275453	6557	30059											
CNPY1	285888	broad.mit.edu	37	chr7	155301617	155301617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaaggtctgtaagcatcaGaataaaaatacaatttttta	18	13	5	5	0	3	1	2	0	1	1	3	1	3	1	0	1	2	2	0	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:155301617G>A	ENST00000321736.5	-	2	278	c.116C>T	c.(115-117)tCt>tTt	p.S39F	CNPY1_ENST00000406197.1_Missense_Mutation_p.S39F	NM_001103176.1	NP_001096646.1	Q3B7I2	CNPY1_HUMAN	canopy FGF signaling regulator 1	39										breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	8	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		GTAAGCATCAGAATAAAAATA	0.368													A	155301617	G	A	155301617	3	1	364	1	0	0	0	0	1	0	0	0	3658	942	33	2	174	2	CNPY1	7	155301617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	438407	155301617	3837046	6558	30060											
RNF32	140545	broad.mit.edu	37	chr7	156468554	156468554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatgggagaaaatccaagtGcaggtaggtttggctggcag	12	8	16	5	0	0	1	0	0	0	1	1	3	1	1	1	5	1	5	1	5	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156468554G>A	ENST00000405335.1	+	9	1258	c.849G>A	c.(847-849)gtG>gtA	p.V283V	RNF32_ENST00000432459.2_Silent_p.V283V|RNF32_ENST00000343665.4_Silent_p.V259V|RNF32_ENST00000392743.2_Silent_p.V283V|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Silent_p.V283V|RNF32_ENST00000311822.8_Silent_p.V283V			Q9H0A6	RNF32_HUMAN	ring finger protein 32	283						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAATCCAAGTGCAGGTAGGTT	0.527													A	156468554	G	A	156468554	2	1	364	1	0	0	0	0	0	0	0	1	13579	1306	46	2		2	RNF32	7	156468554	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1166937	156468554	2670109	6559	30061											
RNF32	140545	broad.mit.edu	37	chr7	156469001	156469001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taacacagaatgaaacttccGcatgtttcgaagacccatgt	14	10	7	10	2	0	3	0	1	0	2	2	4	1	3	2	0	2	2	2	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156469001G>A	ENST00000311822.8	+	9	1019	c.865G>A	c.(865-867)Gca>Aca	p.A289T	RNF32_ENST00000432459.2_Intron|RNF32_ENST00000343665.4_Intron|RNF32_ENST00000392743.2_Intron|RNF32_ENST00000405335.1_Intron|LMBR1_ENST00000430825.2_Intron|RNF32_ENST00000317955.5_Intron			Q9H0A6	RNF32_HUMAN	ring finger protein 32	292						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		TGAAACTTCCGCATGTTTCGA	0.398													A	156469001	G	A	156469001	3	1	364	1	0	0	0	0	1	0	0	0	13579	1102	38	1		1	RNF32	7	156469001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	447	156469001	2669662	6560	30062											
LMBR1	64327	broad.mit.edu	37	chr7	156549115	156549115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctctggagtgcttcttcCtctaaggtaatgatataaat	10	15	8	8	1	3	1	0	1	3	0	5	2	4	2	1	2	1	2	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156549115C>A	ENST00000353442.5	-	9	965	c.729G>T	c.(727-729)gaG>gaT	p.E243D	LMBR1_ENST00000540390.1_Missense_Mutation_p.E222D|LMBR1_ENST00000359422.4_Missense_Mutation_p.E91D|LMBR1_ENST00000354505.4_Missense_Mutation_p.E243D	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		GTGCTTCTTCCTCTAAGGTAA	0.269													A	156549115	C	A	156549115	3	1	364	1	0	0	0	0	1	0	0	0	8901	680	24	4	779	4	LMBR1	7	156549115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80114	156549115	2589548	6561	30063											
LMBR1	64327	broad.mit.edu	37	chr7	156555833	156555833	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacatcccatcaatgatatAcaggaatataaatagggtag	19	9	7	6	0	1	1	1	1	0	0	2	2	2	2	1	2	2	1	1	2	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156555833A>G	ENST00000353442.5	-	7	824	c.588T>C	c.(586-588)tgT>tgC	p.C196C	LMBR1_ENST00000540390.1_Silent_p.C175C|LMBR1_ENST00000359422.4_Silent_p.C44C|LMBR1_ENST00000354505.4_Silent_p.C196C	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TCAATGATATACAGGAATATA	0.294													G	156555833	A	G	156555833	2	3	364	1	0	0	0	0	0	0	0	1	8901	389	14	3		3	LMBR1	7	156555833	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6718	156555833	2582830	6562	30064											
NOM1	64434	broad.mit.edu	37	chr7	156743262	156743262	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaggcgcaggaagcagaAgcgcagagcgaggacgacga	16	0	17	8	5	0	3	0	0	0	3	0	8	0	5	0	3	3	3	0	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156743262A>C	ENST00000275820.3	+	1	846	c.831A>C	c.(829-831)gaA>gaC	p.E277D		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	277	Glu-rich.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		aggaagcagaagcgcagagcg	0.542													C	156743262	A	C	156743262	3	2	364	1	0	0	0	0	1	0	0	0	10606	69	3	5	833	5	NOM1	7	156743262	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	187429	156743262	2395401	6563	30065											
UBE3C	9690	broad.mit.edu	37	chr7	156994433	156994433	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttctctacagtttagcCtttaatgccaggtttctgag	8	15	9	9	0	2	1	0	1	2	0	3	1	2	1	2	2	3	3	2	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:156994433C>A	ENST00000348165.5	+	11	1710	c.1350C>A	c.(1348-1350)gcC>gcA	p.A450A		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	450					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		ACAGTTTAGCCTTTAATGCCA	0.308													A	156994433	C	A	156994433	2	1	364	1	0	0	0	0	0	0	0	1	16983	668	24	4		4	UBE3C	7	156994433	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251171	156994433	2144230	6564	30066											
UBE3C	9690	broad.mit.edu	37	chr7	157041083	157041083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctctatgagaacatgctgGtggagctgccctttgcaggc	7	11	12	11	0	1	1	0	1	1	1	2	3	1	2	1	3	5	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157041083G>A	ENST00000348165.5	+	19	2863	c.2503G>A	c.(2503-2505)Gtg>Atg	p.V835M		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	835	HECT.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		GAACATGCTGGTGGAGCTGCC	0.473													A	157041083	G	A	157041083	3	1	364	1	0	0	0	0	1	0	0	0	16983	1261	44	2	2577	2	UBE3C	7	157041083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46650	157041083	2097580	6565	30067											
PTPRN2	5799	broad.mit.edu	37	chr7	157370773	157370773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggtagcactgccggacGccgttctccgcgaggggtgt	5	9	16	11	5	1	0	0	0	1	0	2	2	1	1	3	4	2	3	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370773G>A	ENST00000389413.3	-	17	2572	c.2469C>T	c.(2467-2469)ggC>ggT	p.G823G	PTPRN2_ENST00000389416.4_Silent_p.G835G|PTPRN2_ENST00000409483.1_Silent_p.G814G|PTPRN2_ENST00000389418.4_Silent_p.G852G|PTPRN2_ENST00000404321.2_Silent_p.G875G	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	852	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		ACTGCCGGACGCCGTTCTCCG	0.632													A	157370773	G	A	157370773	2	1	364	1	0	0	0	0	0	0	0	1	12896	1074	38	1		1	PTPRN2	7	157370773	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329690	157370773	1767890	6566	30068											
PTPRN2	5799	broad.mit.edu	37	chr7	157370803	157370803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgaggggtgtcagcatgacGatcaccacgcagccgctctc	8	6	13	14	4	3	1	2	1	1	0	4	3	3	1	2	2	2	3	2	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:157370803G>A	ENST00000389413.3	-	17	2542	c.2439C>T	c.(2437-2439)atC>atT	p.I813I	PTPRN2_ENST00000389416.4_Silent_p.I825I|PTPRN2_ENST00000409483.1_Silent_p.I804I|PTPRN2_ENST00000389418.4_Silent_p.I842I|PTPRN2_ENST00000404321.2_Silent_p.I865I	NM_130843.2	NP_570858.2	Q92932	PTPR2_HUMAN	protein tyrosine phosphatase, receptor type, N polypeptide 2	842	Tyrosine-protein phosphatase.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(1)|lung(42)|ovary(4)|pleura(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	86	all_neural(206;0.181)	all_cancers(7;8.99e-13)|all_epithelial(9;2.4e-06)|all_hematologic(28;0.0155)|Breast(660;0.132)	OV - Ovarian serous cystadenocarcinoma(82;0.00463)	STAD - Stomach adenocarcinoma(7;0.0875)		TCAGCATGACGATCACCACGC	0.592													A	157370803	G	A	157370803	2	1	364	1	0	0	0	0	0	0	0	1	12896	1048	37	1		1	PTPRN2	7	157370803	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	157370803	1767860	6567	30069											
NCAPG2	54892	broad.mit.edu	37	chr7	158455046	158455046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatcgtttactgacagtGttttgtccagaacctaagat	12	13	7	9	1	0	3	0	1	0	2	2	3	1	3	2	0	3	2	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158455046G>A	ENST00000409339.3	-	16	1942	c.1829C>T	c.(1828-1830)aCa>aTa	p.T610I	NCAPG2_ENST00000356309.3_Missense_Mutation_p.T610I|NCAPG2_ENST00000275830.10_Missense_Mutation_p.T402I|NCAPG2_ENST00000409423.1_Missense_Mutation_p.T610I|NCAPG2_ENST00000541468.1_Missense_Mutation_p.T111I|NCAPG2_ENST00000449727.2_Missense_Mutation_p.T610I	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	610					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TACTGACAGTGTTTTGTCCAG	0.343													A	158455046	G	A	158455046	3	1	364	1	0	0	0	0	1	0	0	0	10284	1377	48	2	1654	2	NCAPG2	7	158455046	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1084243	158455046	683617	6568	30070											
ESYT2	57488	broad.mit.edu	37	chr7	158529800	158529800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttcctccttcctgaccGcctcttgtctggtaataaat	6	17	6	12	1	2	1	0	1	2	0	5	1	5	1	5	1	0	2	5	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158529800G>A	ENST00000251527.5	-	19	2484	c.2419C>T	c.(2419-2421)Cgg>Tgg	p.R807W	ESYT2_ENST00000435514.2_Missense_Mutation_p.R242W	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	835	C2 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						CTTCCTGACCGCCTCTTGTCT	0.443													A	158529800	G	A	158529800	3	1	364	1	0	0	0	0	1	0	0	0	5306	1086	38	1	278	1	ESYT2	7	158529800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74754	158529800	608863	6569	30071											
WDR60	55112	broad.mit.edu	37	chr7	158716267	158716267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgtcttttaggtcacGtgttgctgcttgagcccttt	3	18	10	10	1	2	1	1	1	1	0	2	1	2	1	2	1	3	3	2	1	1	6	rs141953924	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr7:158716267G>A	ENST00000407559.3	+	17	2258	c.2100G>A	c.(2098-2100)acG>acA	p.T700T		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	700										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		TTTAGGTCACGTGTTGCTGCT	0.463													A	158716267	G	A	158716267	2	1	364	1	0	0	0	0	0	0	0	1	17413	1132	40	1		1	WDR60	7	158716267	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186467	158716267	422396	6570	30072											
ZNF596	169270	broad.mit.edu	37	chr8	195916	195916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttagacaacatgagcgaagtCacaatggagagaaaccacat	18	6	9	8	1	1	3	1	1	0	2	1	6	1	4	1	1	3	0	1	1	5	1	rs137958651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:195916C>T	ENST00000398612.1	+	6	1452	c.1069C>T	c.(1069-1071)Cac>Tac	p.H357Y	ZNF596_ENST00000320552.2_Missense_Mutation_p.H287Y|ZNF596_ENST00000308811.4_Missense_Mutation_p.H357Y	NM_001042415.1|NM_001042416.1	NP_001035880.1|NP_001035881.1	Q8TC21	ZN596_HUMAN	zinc finger protein 596	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(5)	14		all_cancers(2;4.81e-29)|all_epithelial(2;5.03e-19)|Lung NSC(2;8.68e-08)|all_lung(2;1.52e-07)|Ovarian(12;0.00965)|Colorectal(14;0.0367)|all_neural(12;0.0837)|Myeloproliferative disorder(644;0.116)|all_hematologic(2;0.138)|Acute lymphoblastic leukemia(644;0.242)		Epithelial(5;3.77e-18)|all cancers(2;5.2e-17)|OV - Ovarian serous cystadenocarcinoma(5;5.37e-09)|BRCA - Breast invasive adenocarcinoma(11;1.7e-06)|Colorectal(2;6.51e-05)|READ - Rectum adenocarcinoma(2;0.0276)|COAD - Colon adenocarcinoma(149;0.0702)		TGAGCGAAGTCACAATGGAGA	0.408													T	195916	C	T	195916	3	4	364	1	0	0	0	0	1	0	0	0	18127	826	29	2	1087	2	ZNF596	8	195916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		195916	146168106	6571	30073											
FBXO25	26260	broad.mit.edu	37	chr8	381365	381365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaatagtgaagatggagaAatattcaataatgaagagca	20	10	9	2	0	1	5	1	2	0	3	1	6	1	5	0	1	1	1	0	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:381365A>G	ENST00000352684.2	+	3	425	c.8A>G	c.(7-9)aAa>aGa	p.K3R	FBXO25_ENST00000276326.5_Silent_p.E53E|FBXO25_ENST00000350302.3_Silent_p.E53E|FBXO25_ENST00000382824.1_Missense_Mutation_p.K3R	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25	0	Interaction with beta-actin.					nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		AAGATGGAGAAATATTCAATA	0.269													G	381365	A	G	381365	3	3	364	1	0	0	0	0	1	0	0	0	5785	14	1	3	165	3	FBXO25	8	381365	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	185449	381365	145982657	6572	30074											
FBXO25	26260	broad.mit.edu	37	chr8	418714	418714	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcccacctccccacaGgactcaggacacccctgcac	9	5	5	22	0	2	0	1	0	1	0	4	2	3	2	7	2	1	1	7	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:418714G>T	ENST00000352684.2	+	9	1203		c.e9-1		FBXO25_ENST00000276326.5_Splice_Site|FBXO25_ENST00000350302.3_Splice_Site|FBXO25_ENST00000382824.1_Splice_Site	NM_012173.3	NP_036305.2	Q8TCJ0	FBX25_HUMAN	F-box protein 25							nucleus|SCF ubiquitin ligase complex	actin binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)	10		Ovarian(12;0.00965)|Colorectal(14;0.0815)|Myeloproliferative disorder(644;0.116)|all_neural(12;0.122)		Epithelial(5;3.14e-14)|OV - Ovarian serous cystadenocarcinoma(5;1.56e-07)|BRCA - Breast invasive adenocarcinoma(11;1.88e-06)		CCTCCCCACAGGACTCAGGAC	0.617													T	418714	G	T	418714	5	4	364	1	0	0	0	0	0	0	1	0	5785	1014	35	4	1052	4	FBXO25	8	418714	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37349	418714	145945308	6573	30075											
ERICH1	157697	broad.mit.edu	37	chr8	618675	618675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcttgcaggagcagcagcGttttcatgtggtacaggatg	9	12	13	7	1	2	0	1	0	1	0	2	2	2	2	0	3	5	5	0	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:618675G>A	ENST00000262109.7	-	5	1258	c.1181C>T	c.(1180-1182)aCg>aTg	p.T394M	ERICH1_ENST00000522706.1_Missense_Mutation_p.T300M	NM_207332.1	NP_997215.1	Q86X53	ERIC1_HUMAN	glutamate-rich 1	394										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)	20		Colorectal(14;0.158)|Ovarian(12;0.17)|Myeloproliferative disorder(644;0.185)|Hepatocellular(245;0.236)		Epithelial(5;3.29e-14)|BRCA - Breast invasive adenocarcinoma(11;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(5;3.65e-06)|READ - Rectum adenocarcinoma(1;0.0325)		GAGCAGCAGCGTTTTCATGTG	0.537													A	618675	G	A	618675	3	1	364	1	0	0	0	0	1	0	0	0	5271	1145	40	1	158	1	ERICH1	8	618675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199961	618675	145745347	6574	30076											
CLN8	2055	broad.mit.edu	37	chr8	1728703	1728703	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagcaggccagaaggcaaCgggcagctgctgcggaagaa	14	2	16	9	2	0	3	0	0	0	3	0	4	0	4	1	4	5	5	1	4	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1728703C>T	ENST00000331222.4	+	3	1078	c.831C>T	c.(829-831)aaC>aaT	p.N277N	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	277					cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		CAGAAGGCAACGGGCAGCTGC	0.592													T	1728703	C	T	1728703	2	4	364	1	0	0	0	0	0	0	0	1	3577	535	19	1		1	CLN8	8	1728703	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110028	1728703	144635319	6575	30077											
ARHGEF10	9639	broad.mit.edu	37	chr8	1817379	1817379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatccagaggaagcaatttaCgatgacgttccaagggaaaa	16	7	11	7	2	0	2	0	1	0	1	2	6	2	4	2	2	2	2	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1817379C>T	ENST00000518288.1	+	8	880	c.717C>T	c.(715-717)taC>taT	p.Y239Y	ARHGEF10_ENST00000398564.1_Silent_p.Y239Y|ARHGEF10_ENST00000398560.1_Silent_p.Y239Y|ARHGEF10_ENST00000520359.1_Silent_p.Y215Y|ARHGEF10_ENST00000262112.6_Silent_p.Y239Y|ARHGEF10_ENST00000349830.3_Silent_p.Y214Y			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	239					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		AAGCAATTTACGATGACGTTC	0.443													T	1817379	C	T	1817379	2	4	364	1	0	0	0	0	0	0	0	1	897	547	19	1		1	ARHGEF10	8	1817379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88676	1817379	144546643	6576	30078											
ARHGEF10	9639	broad.mit.edu	37	chr8	1828318	1828318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcagcagctcaggcagaaGcatgaactgaaggtagagtc	14	7	12	8	0	2	4	2	2	0	2	3	4	2	4	0	2	4	5	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1828318G>T	ENST00000518288.1	+	10	1186	c.1023G>T	c.(1021-1023)aaG>aaT	p.K341N	ARHGEF10_ENST00000398564.1_Missense_Mutation_p.K341N|ARHGEF10_ENST00000398560.1_Intron|ARHGEF10_ENST00000520359.1_Intron|ARHGEF10_ENST00000262112.6_Missense_Mutation_p.K341N|ARHGEF10_ENST00000349830.3_Missense_Mutation_p.K316N			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	341					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAGGCAGAAGCATGAACTGA	0.557													T	1828318	G	T	1828318	3	4	364	1	0	0	0	0	1	0	0	0	897	962	34	4	978	4	ARHGEF10	8	1828318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10939	1828318	144535704	6577	30079											
ARHGEF10	9639	broad.mit.edu	37	chr8	1882009	1882009	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaagtgatcaagttaggCgtcctaccagttagaagtct	14	10	9	8	1	2	2	1	1	1	1	3	2	3	2	2	1	1	2	2	1	7	3	rs146918202		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:1882009C>T	ENST00000518288.1	+	27	3358	c.3195C>T	c.(3193-3195)ggC>ggT	p.G1065G	ARHGEF10_ENST00000398564.1_Silent_p.G1066G|ARHGEF10_ENST00000520359.1_Silent_p.G1003G|ARHGEF10_ENST00000262112.6_Silent_p.G1037G|ARHGEF10_ENST00000349830.3_Silent_p.G1041G			O15013	ARHGA_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10	1066					centrosome duplication|myelination in peripheral nervous system|positive regulation of GTP catabolic process|positive regulation of stress fiber assembly|regulation of Rho protein signal transduction|spindle assembly involved in mitosis	centrosome|cytosol|soluble fraction	kinesin binding|Rho guanyl-nucleotide exchange factor activity			endometrium(3)|large_intestine(11)|lung(11)|prostate(3)|skin(3)|stomach(3)|urinary_tract(1)	35		Colorectal(14;3.46e-05)|Renal(68;0.000518)|Ovarian(12;0.00409)|Myeloproliferative disorder(644;0.0255)|Hepatocellular(245;0.0834)		COAD - Colon adenocarcinoma(149;1.62e-05)|BRCA - Breast invasive adenocarcinoma(11;1.68e-05)|KIRC - Kidney renal clear cell carcinoma(542;0.00361)|READ - Rectum adenocarcinoma(644;0.0718)		TCAAGTTAGGCGTCCTACCAG	0.438													T	1882009	C	T	1882009	2	4	364	1	0	0	0	0	0	0	0	1	897	755	27	1		1	ARHGEF10	8	1882009	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53691	1882009	144482013	6578	30080											
MYOM2	9172	broad.mit.edu	37	chr8	2007344	2007344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattgagagcaactatggcGtacacacactggagatcaac	14	7	11	9	1	1	2	1	1	0	2	1	5	1	3	0	3	4	2	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2007344G>A	ENST00000262113.4	+	6	772	c.631G>A	c.(631-633)Gta>Ata	p.V211I	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	211	Ig-like C2-type 1.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAACTATGGCGTACACACACT	0.502													A	2007344	G	A	2007344	3	1	364	1	0	0	0	0	1	0	0	0	10168	1145	40	1	649	1	MYOM2	8	2007344	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125335	2007344	144356678	6579	30081											
MYOM2	9172	broad.mit.edu	37	chr8	2026940	2026940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgagggcagtgaacagtgCgggcatcagccgaccctcca	10	5	14	12	2	1	2	1	2	0	0	2	3	2	2	3	2	3	2	3	2	1	0	rs144104874		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2026940C>T	ENST00000262113.4	+	12	1529	c.1388C>T	c.(1387-1389)gCg>gTg	p.A463V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	463	Fibronectin type-III 1.				muscle contraction	myosin filament	structural constituent of muscle	p.A463V(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GTGAACAGTGCGGGCATCAGC	0.537													T	2026940	C	T	2026940	3	4	364	1	0	0	0	0	1	0	0	0	10168	768	27	1	1430	1	MYOM2	8	2026940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19596	2026940	144337082	6580	30082											
MYOM2	9172	broad.mit.edu	37	chr8	2046693	2046693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaatctgaataggtggacGgcttgacggaaggctcactc	12	8	12	9	2	2	2	1	2	1	0	3	4	2	4	0	5	0	2	0	5	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2046693G>A	ENST00000262113.4	+	19	2461	c.2320G>A	c.(2320-2322)Ggc>Agc	p.G774S	MYOM2_ENST00000523438.1_Missense_Mutation_p.G199S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	774	Fibronectin type-III 4.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ATAGGTGGACGGCTTGACGGA	0.493													A	2046693	G	A	2046693	3	1	364	1	0	0	0	0	1	0	0	0	10168	1116	39	1	2390	1	MYOM2	8	2046693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19753	2046693	144317329	6581	30083											
CSMD1	64478	broad.mit.edu	37	chr8	2876089	2876089	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtgtagccggtgttgcacgTaaatatagctgtggccccat	8	11	12	10	3	0	0	0	0	0	0	0	0	0	0	3	2	3	5	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2876089T>C	ENST00000602557.1	-	53	8497	c.7942A>G	c.(7942-7944)Acg>Gcg	p.T2648A	CSMD1_ENST00000400186.3_Intron|CSMD1_ENST00000537824.1_Missense_Mutation_p.T2647A|CSMD1_ENST00000542608.1_Intron|CSMD1_ENST00000602723.1_Intron|CSMD1_ENST00000520002.1_Missense_Mutation_p.T2648A			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2648	Sushi 17.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GTGTTGCACGTAAATATAGCT	0.483													C	2876089	T	C	2876089	3	2	364	1	0	0	0	0	1	0	0	0	3977	1638	57	3	2831	3	CSMD1	8	2876089	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	829396	2876089	143487933	6582	30084											
CSMD1	64478	broad.mit.edu	37	chr8	2967741	2967741	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagttgatgtaaactcCgtgccctggaggcaccgtga	9	9	14	9	2	0	3	0	3	0	0	1	4	1	4	3	3	2	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:2967741C>A	ENST00000602557.1	-	44	7105	c.6550G>T	c.(6550-6552)Gga>Tga	p.G2184*	CSMD1_ENST00000400186.3_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000537824.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000542608.1_Nonsense_Mutation_p.G2183*|CSMD1_ENST00000602723.1_Nonsense_Mutation_p.G2184*|CSMD1_ENST00000520002.1_Nonsense_Mutation_p.G2184*			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2184	CUB 13.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ATGTAAACTCCGTGCCCTGGA	0.473													A	2967741	C	A	2967741	4	1	364	1	0	0	0	0	0	1	0	0	3977	661	23	4	4259	4	CSMD1	8	2967741	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91652	2967741	143396281	6583	30085											
MCPH1	79648	broad.mit.edu	37	chr8	6302093	6302093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccatctttcactcacctcGataaatcaagtcctcagaaa	14	10	3	14	1	5	1	4	0	1	1	7	2	6	1	3	0	0	0	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6302093G>A	ENST00000344683.5	+	8	926	c.850G>A	c.(850-852)Gat>Aat	p.D284N	MCPH1_ENST00000522905.1_Missense_Mutation_p.D236N|MCPH1_ENST00000519480.1_Missense_Mutation_p.D284N	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	284						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CACTCACCTCGATAAATCAAG	0.338													A	6302093	G	A	6302093	3	1	364	1	0	0	0	0	1	0	0	0	9473	1058	37	1	880	1	MCPH1	8	6302093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3334352	6302093	140061929	6584	30086											
MCPH1	79648	broad.mit.edu	37	chr8	6312716	6312716	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgactcatgtgacggCtttaaggacctcatcaaacc	12	11	8	10	1	3	3	3	2	0	1	3	4	3	4	2	2	1	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6312716C>A	ENST00000344683.5	+	9	1954	c.1878C>A	c.(1876-1878)ggC>ggA	p.G626G		NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	626						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		CATGTGACGGCTTTAAGGACC	0.348													A	6312716	C	A	6312716	2	1	364	1	0	0	0	0	0	0	0	1	9473	784	28	4		4	MCPH1	8	6312716	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10623	6312716	140051306	6585	30087											
AGPAT5	55326	broad.mit.edu	37	chr8	6605223	6605223	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacatgtgctaacaccaCgaataaaggcaactcacgtt	17	8	6	10	2	1	0	1	0	0	0	1	1	1	0	1	1	4	3	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6605223C>T	ENST00000285518.6	+	6	931	c.619C>T	c.(619-621)Cga>Tga	p.R207*	AGPAT5_ENST00000530716.1_3'UTR	NM_018361.3	NP_060831.2	Q9NUQ2	PLCE_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 5	207					phospholipid biosynthetic process	integral to membrane|mitochondrion	1-acylglycerol-3-phosphate O-acyltransferase activity		AGPAT5/MCPH1(2)	endometrium(2)|kidney(2)|large_intestine(4)|lung(3)	11			STAD - Stomach adenocarcinoma(24;0.0578)	READ - Rectum adenocarcinoma(644;0.156)|COAD - Colon adenocarcinoma(149;0.191)		GCTAACACCACGAATAAAGGC	0.373													T	6605223	C	T	6605223	4	4	364	1	0	0	0	0	0	1	0	0	390	528	19	1	641	1	AGPAT5	8	6605223	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292507	6605223	139758799	6586	30088											
DEFA4	1669	broad.mit.edu	37	chr8	6794287	6794287	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttttatcccatgcaaaGgaaatagatatgtcctggtc	12	12	9	8	0	0	1	0	0	0	1	3	3	2	2	2	2	2	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6794287G>T	ENST00000297435.2	-	2	259	c.135C>A	c.(133-135)tcC>tcA	p.S45S		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	45					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		CCCATGCAAAGGAAATAGATA	0.562													T	6794287	G	T	6794287	2	4	364	1	0	0	0	0	0	0	0	1	4425	987	35	4		4	DEFA4	8	6794287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189064	6794287	139569735	6587	30089											
DEFA5	1670	broad.mit.edu	37	chr8	6913035	6913035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggtagcacaacggccggttCggcaatagcaggtggctctt	8	8	15	10	3	1	0	0	0	1	0	2	0	1	0	1	6	3	6	1	6	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:6913035C>T	ENST00000330590.2	-	2	239	c.203G>A	c.(202-204)cGa>cAa	p.R68Q		NM_021010.1	NP_066290.1	Q01523	DEF5_HUMAN	defensin, alpha 5, Paneth cell-specific	68					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				NS(1)|lung(4)|skin(1)|stomach(1)	7				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		ACGGCCGGTTCGGCAATAGCA	0.567													T	6913035	C	T	6913035	3	4	364	1	0	0	0	0	1	0	0	0	4426	884	31	1	85	1	DEFA5	8	6913035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118748	6913035	139450987	6588	30090											
SPAG11B	10407	broad.mit.edu	37	chr8	7308697	7308697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcctaaatgagggtcctCgagcctcccggtgagagatg	10	8	13	10	2	0	4	0	2	0	2	4	6	3	4	4	2	1	0	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:7308697C>T	ENST00000297498.2	-	3	405	c.239G>A	c.(238-240)cGa>cAa	p.R80Q	SPAG11B_ENST00000361111.2_Intron|SPAG11B_ENST00000398462.2_Intron|SPAG11B_ENST00000528168.1_Missense_Mutation_p.R27Q|SPAG11B_ENST00000359758.5_Intron|SPAG11B_ENST00000458665.1_Intron	NM_016512.3	NP_057596.1	Q08648	SG11B_HUMAN	sperm associated antigen 11B	80					spermatogenesis	extracellular region		p.R80Q(1)		large_intestine(2)|lung(3)|urinary_tract(1)	6				COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.236)		TGAGGGTCCTCGAGCCTCCCG	0.468													T	7308697	C	T	7308697	3	4	364	1	0	0	0	0	1	0	0	0	15073	884	31	1	285	1	SPAG11B	8	7308697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395662	7308697	139055325	6589	30091											
SGK223	157285	broad.mit.edu	37	chr8	8175940	8175940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcacgcgcttggcctcGccgatgcggatacgcttgat	6	9	13	13	6	0	1	0	1	0	0	1	3	0	2	2	2	4	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8175940G>A	ENST00000520004.1	-	6	4209	c.3945C>T	c.(3943-3945)ggC>ggT	p.G1315G	SGK223_ENST00000330777.4_Silent_p.G1315G			Q86YV5	SG223_HUMAN		1315	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										GCTTGGCCTCGCCGATGCGGA	0.711													A	8175940	G	A	8175940	2	1	364	1	0	0	0	0	0	0	0	1	14303	1074	38	1		1	SGK223	8	8175940	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	867243	8175940	138188082	6590	30092											
SGK223	157285	broad.mit.edu	37	chr8	8176527	8176527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaagcaggaagcacaCgcgccgctcgtacgcctcgg	9	5	13	14	6	0	1	0	0	0	1	2	2	0	2	2	2	4	5	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8176527C>T	ENST00000520004.1	-	6	3622	c.3358G>A	c.(3358-3360)Gtg>Atg	p.V1120M	SGK223_ENST00000330777.4_Missense_Mutation_p.V1120M			Q86YV5	SG223_HUMAN		1120	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity										AGGAAGCACACGCGCCGCTCG	0.667													T	8176527	C	T	8176527	3	4	364	1	0	0	0	0	1	0	0	0	14303	536	19	1	854	1	SGK223	8	8176527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	587	8176527	138187495	6591	30093											
SGK223	157285	broad.mit.edu	37	chr8	8185546	8185546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagctgggaggatgaggCggagggggcccctttgcact	6	7	18	10	1	1	1	1	1	0	0	1	4	1	4	2	6	2	3	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8185546C>T	ENST00000520004.1	-	5	3010	c.2746G>A	c.(2746-2748)Gcc>Acc	p.A916T	SGK223_ENST00000330777.4_Missense_Mutation_p.A916T			Q86YV5	SG223_HUMAN		916							ATP binding|non-membrane spanning protein tyrosine kinase activity										GAGGATGAGGCGGAGGGGGCC	0.667													T	8185546	C	T	8185546	3	4	364	1	0	0	0	0	1	0	0	0	14303	768	27	1	1470	1	SGK223	8	8185546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9019	8185546	138178476	6592	30094											
SGK223	157285	broad.mit.edu	37	chr8	8235357	8235357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtttttctttgtgcaCagccttctcctccgggaagc	5	14	11	11	1	2	1	0	1	2	0	4	2	3	2	3	2	3	2	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8235357C>T	ENST00000520004.1	-	3	826	c.562G>A	c.(562-564)Gtg>Atg	p.V188M	SGK223_ENST00000330777.4_Missense_Mutation_p.V188M			Q86YV5	SG223_HUMAN		188							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCTTTGTGCACAGCCTTCTCC	0.602													T	8235357	C	T	8235357	3	4	364	1	0	0	0	0	1	0	0	0	14303	478	17	2	3662	2	SGK223	8	8235357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49811	8235357	138128665	6593	30095											
MFHAS1	9258	broad.mit.edu	37	chr8	8747988	8747988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccattaatccaggcttctgCatggggcacctcgttctgca	7	11	9	14	1	2	0	0	0	2	0	4	0	3	0	3	3	2	5	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8747988C>T	ENST00000276282.6	-	1	3167	c.2581G>A	c.(2581-2583)Gca>Aca	p.A861T		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	861										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		CAGGCTTCTGCATGGGGCACC	0.488													T	8747988	C	T	8747988	3	4	364	1	0	0	0	0	1	0	0	0	9596	710	25	2	589	2	MFHAS1	8	8747988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	512631	8747988	137616034	6594	30096											
MFHAS1	9258	broad.mit.edu	37	chr8	8748217	8748217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccacatactgatggagCtgggtggcccggagcagttc	7	8	13	13	1	0	1	0	1	0	0	2	3	1	3	3	4	3	3	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:8748217C>T	ENST00000276282.6	-	1	2938	c.2352G>A	c.(2350-2352)caG>caA	p.Q784Q		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	784										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		ACTGATGGAGCTGGGTGGCCC	0.632													T	8748217	C	T	8748217	2	4	364	1	0	0	0	0	0	0	0	1	9596	796	28	2		2	MFHAS1	8	8748217	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229	8748217	137615805	6595	30097											
RP1L1	94137	broad.mit.edu	37	chr8	10465182	10465182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaccttctgactcaggCtgggcctccccttcagcctc	5	11	7	18	0	4	1	2	1	2	0	6	1	5	1	5	2	2	1	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465182C>A	ENST00000382483.3	-	4	6649	c.6426G>T	c.(6424-6426)caG>caT	p.Q2142H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2142					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTGACTCAGGCTGGGCCTCCC	0.617													A	10465182	C	A	10465182	3	1	364	1	0	0	0	0	1	0	0	0	13624	796	28	4	780	4	RP1L1	8	10465182	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1716965	10465182	135898840	6596	30098											
RP1L1	94137	broad.mit.edu	37	chr8	10465534	10465534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccttctgactttggctggGcctctacaccgtctgactct	5	13	8	15	1	4	2	0	2	4	0	4	2	4	2	3	2	1	1	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465534G>A	ENST00000382483.3	-	4	6297	c.6074C>T	c.(6073-6075)gCc>gTc	p.A2025V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2025					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTTGGCTGGGCCTCTACACC	0.612													A	10465534	G	A	10465534	3	1	364	1	0	0	0	0	1	0	0	0	13624	1203	42	2	1132	2	RP1L1	8	10465534	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	352	10465534	135898488	6597	30099											
RP1L1	94137	broad.mit.edu	37	chr8	10465764	10465764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctgcccttctgcctcCtgggccgcctcttctgcctc	0	13	10	18	1	4	0	0	0	4	0	6	0	5	0	6	2	3	0	6	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10465764C>A	ENST00000382483.3	-	4	6067	c.5844G>T	c.(5842-5844)caG>caT	p.Q1948H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1948					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTTCTGCCTCCTGGGCCGCCT	0.602													A	10465764	C	A	10465764	3	1	364	1	0	0	0	0	1	0	0	0	13624	680	24	4	1362	4	RP1L1	8	10465764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230	10465764	135898258	6598	30100											
RP1L1	94137	broad.mit.edu	37	chr8	10466584	10466584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctggttgcccccattGtggccttgggggacataggg	5	10	15	11	0	1	0	0	0	1	0	1	2	1	1	4	5	1	1	4	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466584G>A	ENST00000382483.3	-	4	5247	c.5024C>T	c.(5023-5025)aCa>aTa	p.T1675I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1675					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCCCCCATTGTGGCCTTGGG	0.627													A	10466584	G	A	10466584	3	1	364	1	0	0	0	0	1	0	0	0	13624	1377	48	2	2182	2	RP1L1	8	10466584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	820	10466584	135897438	6599	30101											
RP1L1	94137	broad.mit.edu	37	chr8	10466941	10466941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgcagctcggccgccAtctggtccagcagatcattg	6	9	11	15	2	2	1	1	0	1	1	4	1	3	1	4	2	4	4	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10466941A>G	ENST00000382483.3	-	4	4890	c.4667T>C	c.(4666-4668)aTg>aCg	p.M1556T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1556					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		CTCGGCCGCCATCTGGTCCAG	0.657													G	10466941	A	G	10466941	3	3	364	1	0	0	0	0	1	0	0	0	13624	217	8	3	2539	3	RP1L1	8	10466941	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	357	10466941	135897081	6600	30102											
RP1L1	94137	broad.mit.edu	37	chr8	10467277	10467277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttcctctgtgccctctGcggggcacggctctgcagag	3	10	15	13	2	3	1	0	0	3	1	4	1	4	1	2	4	3	4	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10467277G>A	ENST00000382483.3	-	4	4554	c.4331C>T	c.(4330-4332)gCa>gTa	p.A1444V		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	1444					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGTGCCCTCTGCGGGGCACGG	0.632													A	10467277	G	A	10467277	3	1	364	1	0	0	0	0	1	0	0	0	13624	1319	46	2	2875	2	RP1L1	8	10467277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	336	10467277	135896745	6601	30103											
RP1L1	94137	broad.mit.edu	37	chr8	10469301	10469301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgggggccggcgagcatgtCctggaccccgcgtcccctgc	4	6	15	16	4	0	0	0	0	0	0	2	2	2	1	6	4	2	1	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10469301C>A	ENST00000382483.3	-	4	2530	c.2307G>T	c.(2305-2307)agG>agT	p.R769S		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	769					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCGAGCATGTCCTGGACCCCG	0.662													A	10469301	C	A	10469301	3	1	364	1	0	0	0	0	1	0	0	0	13624	854	30	4	4899	4	RP1L1	8	10469301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2024	10469301	135894721	6602	30104											
RP1L1	94137	broad.mit.edu	37	chr8	10470315	10470315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccactgcagcggacGtgctgggccagtccccacct	7	5	12	17	2	0	0	0	0	0	0	1	1	1	1	5	3	3	2	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470315G>A	ENST00000382483.3	-	4	1516	c.1293C>T	c.(1291-1293)caC>caT	p.H431H		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	431					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TGCAGCGGACGTGCTGGGCCA	0.687													A	10470315	G	A	10470315	2	1	364	1	0	0	0	0	0	0	0	1	13624	1136	40	1		1	RP1L1	8	10470315	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1014	10470315	135893707	6603	30105											
RP1L1	94137	broad.mit.edu	37	chr8	10470542	10470542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcccccagaacggggtCttccccactggctgccgtga	6	8	10	17	2	1	2	0	1	1	1	3	2	3	2	6	3	3	1	6	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10470542C>A	ENST00000382483.3	-	4	1289	c.1066G>T	c.(1066-1068)Gac>Tac	p.D356Y		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	356					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		AGAACGGGGTCTTCCCCACTG	0.682													A	10470542	C	A	10470542	3	1	364	1	0	0	0	0	1	0	0	0	13624	913	32	4	6140	4	RP1L1	8	10470542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	227	10470542	135893480	6604	30106											
RP1L1	94137	broad.mit.edu	37	chr8	10480458	10480458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgaggctatgcaggcccCggggtgtggtgacagagcgc	6	6	18	11	3	0	3	0	2	0	1	0	3	0	3	2	5	2	3	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10480458C>T	ENST00000382483.3	-	2	477	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	85					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ATGCAGGCCCCGGGGTGTGGT	0.652													T	10480458	C	T	10480458	3	4	364	1	0	0	0	0	1	0	0	0	13624	652	23	1	6960	1	RP1L1	8	10480458	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9916	10480458	135883564	6605	30107											
C8orf74	203076	broad.mit.edu	37	chr8	10555162	10555162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagcttagagattacCggggccatttcaacaccacc	13	7	9	12	1	1	1	1	0	0	1	1	3	1	2	4	3	4	1	4	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10555162C>T	ENST00000304519.5	+	3	324	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	RP1L1_ENST00000329335.3_Intron	NM_001040032.1	NP_001035121	Q6P047	CH074_HUMAN	chromosome 8 open reading frame 74	99										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13				COAD - Colon adenocarcinoma(149;0.0811)		TAGAGATTACCGGGGCCATTT	0.567													T	10555162	C	T	10555162	3	4	364	1	0	0	0	0	1	0	0	0	2462	643	23	1	305	1	C8orf74	8	10555162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74704	10555162	135808860	6606	30108											
SOX7	83595	broad.mit.edu	37	chr8	10583430	10583430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atactggtcgaattcattgcGatccatgtcccccaggagtt	9	12	9	11	2	1	0	1	0	0	0	4	3	3	1	3	2	2	1	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583430G>A	ENST00000304501.1	-	2	1063	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SOX7_ENST00000553390.1_Missense_Mutation_p.R381C|SOX7_ENST00000554914.1_Missense_Mutation_p.R381C	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	329	Sox C-terminal.				endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		AATTCATTGCGATCCATGTCC	0.627													A	10583430	G	A	10583430	3	1	364	1	0	0	0	0	1	0	0	0	15050	1058	37	1	185	1	SOX7	8	10583430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28268	10583430	135780592	6607	30109											
SOX7	83595	broad.mit.edu	37	chr8	10583614	10583614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggggacatcatggagacGccgggggactggccaagggc	10	3	18	10	2	1	1	1	0	0	1	1	4	1	3	2	7	0	0	2	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583614G>A	ENST00000304501.1	-	2	879	c.801C>T	c.(799-801)ggC>ggT	p.G267G	SOX7_ENST00000553390.1_Silent_p.G319G|SOX7_ENST00000554914.1_Silent_p.G319G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	267					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		TCATGGAGACGCCGGGGGACT	0.677													A	10583614	G	A	10583614	2	1	364	1	0	0	0	0	0	0	0	1	15050	1074	38	1		1	SOX7	8	10583614	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	10583614	135780408	6608	30110											
SOX7	83595	broad.mit.edu	37	chr8	10583854	10583854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgctcggggtgccgccGccgccaccaccagccggccc	5	3	12	21	5	0	0	0	0	0	0	1	0	0	0	8	3	3	1	8	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10583854G>A	ENST00000304501.1	-	2	639	c.561C>T	c.(559-561)ggC>ggT	p.G187G	SOX7_ENST00000553390.1_Silent_p.G239G|SOX7_ENST00000554914.1_Silent_p.G239G	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	187					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		GGGTGCCGCCGCCGCCACCAC	0.701													A	10583854	G	A	10583854	2	1	364	1	0	0	0	0	0	0	0	1	15050	1074	38	1		1	SOX7	8	10583854	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240	10583854	135780168	6609	30111											
PINX1	54984	broad.mit.edu	37	chr8	10623373	10623373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtactcctggatggtgaaGgcgctggttgtcgtggtttc	6	13	15	7	2	0	1	0	1	0	0	3	2	1	2	1	5	1	4	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:10623373G>T	ENST00000426190.2	-	6	567	c.442C>A	c.(442-444)Ctt>Att	p.L148I	SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron|PINX1_ENST00000314787.3_Silent_p.A175A|CTD-2135J3.3_ENST00000519568.1_RNA|PINX1_ENST00000519088.1_Missense_Mutation_p.L150I	NM_001284356.1	NP_001271285.1			PIN2/TERF1 interacting, telomerase inhibitor 1											kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17				Kidney(29;0.0595)|COAD - Colon adenocarcinoma(149;0.105)|KIRC - Kidney renal clear cell carcinoma(542;0.201)		GGATGGTGAAGGCGCTGGTTG	0.542													T	10623373	G	T	10623373	3	4	364	1	0	0	0	0	1	0	0	0	12010	987	35	4	465	4	PINX1	8	10623373	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39519	10623373	135740649	6610	30112											
NEIL2	252969	broad.mit.edu	37	chr8	11637279	11637279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgatggatcctcacggtCtgcagagctcgtcccccagg	6	9	11	15	2	2	2	1	1	1	1	5	3	4	3	4	3	2	2	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11637279C>T	ENST00000284503.6	+	3	910	c.311C>T	c.(310-312)tCt>tTt	p.S104F	NEIL2_ENST00000455213.2_Missense_Mutation_p.S104F|NEIL2_ENST00000403422.3_Missense_Mutation_p.S43F|NEIL2_ENST00000528323.1_Intron|NEIL2_ENST00000436750.3_Missense_Mutation_p.S104F	NM_145043.2	NP_659480.1	Q969S2	NEIL2_HUMAN	nei endonuclease VIII-like 2 (E. coli)	104					base-excision repair|nucleotide-excision repair	nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|hydrolase activity, hydrolyzing N-glycosyl compounds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	all_epithelial(15;0.103)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.166)		TCCTCACGGTCTGCAGAGCTC	0.602								Base excision repair (BER), DNA glycosylases					T	11637279	C	T	11637279	3	4	364	1	0	0	0	0	1	0	0	0	10395	913	32	2	322	2	NEIL2	8	11637279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1013906	11637279	134726743	6611	30113											
FDFT1	2222	broad.mit.edu	37	chr8	11687765	11687765	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtctaggtttggagcaggTatgttaagaagttaggggat	10	13	15	3	0	1	1	0	0	1	1	1	3	1	3	0	5	1	5	0	5	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11687765T>C	ENST00000220584.4	+	6	937	c.715T>C	c.(715-717)Tat>Cat	p.Y239H	FDFT1_ENST00000538689.1_Missense_Mutation_p.Y128H|FDFT1_ENST00000525900.1_Missense_Mutation_p.Y232H|FDFT1_ENST00000530664.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000528812.1_Missense_Mutation_p.Y175H|FDFT1_ENST00000525777.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000528643.1_Missense_Mutation_p.Y154H|FDFT1_ENST00000446331.2_3'UTR|FDFT1_ENST00000443614.2_Missense_Mutation_p.Y196H	NM_004462.3	NP_004453.3	P37268	FDFT_HUMAN	farnesyl-diphosphate farnesyltransferase 1	239					cholesterol biosynthetic process|isoprenoid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	farnesyl-diphosphate farnesyltransferase activity|oxidoreductase activity|protein binding|squalene synthase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)	12	all_epithelial(15;0.234)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.18)		TTGGAGCAGGTATGTTAAGAA	0.423													C	11687765	T	C	11687765	3	2	364	1	0	0	0	0	1	0	0	0	5851	1638	57	3	737	3	FDFT1	8	11687765	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50486	11687765	134676257	6612	30114											
CTSB	1508	broad.mit.edu	37	chr8	11705621	11705621	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaccaggccttttcttgTccagaagttccaagcttcag	11	11	8	11	0	2	2	1	0	1	2	4	2	4	2	4	1	2	2	4	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:11705621T>C	ENST00000353047.6	-	6	740	c.487A>G	c.(487-489)Aca>Gca	p.T163A	CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000434271.1_Missense_Mutation_p.T163A|CTSB_ENST00000531089.1_Missense_Mutation_p.T163A|CTSB_ENST00000530640.2_Missense_Mutation_p.T163A|CTSB_ENST00000453527.2_Missense_Mutation_p.T163A|CTSB_ENST00000345125.3_Missense_Mutation_p.T163A|CTSB_ENST00000533455.1_Missense_Mutation_p.T163A|CTSB_ENST00000534510.1_Missense_Mutation_p.T163A	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	163					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CCTTTTCTTGTCCAGAAGTTC	0.488													C	11705621	T	C	11705621	3	2	364	1	0	0	0	0	1	0	0	0	4063	1667	58	3	552	3	CTSB	8	11705621	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17856	11705621	134658401	6613	30115											
LONRF1	91694	broad.mit.edu	37	chr8	12594616	12594616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtttaagcttcctttgaCaggctctgaagtgacctctg	8	13	10	10	1	2	3	0	3	2	0	3	3	3	3	2	2	1	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:12594616C>T	ENST00000398246.3	-	5	1216	c.1147G>A	c.(1147-1149)Gtc>Atc	p.V383I	LONRF1_ENST00000533751.1_Missense_Mutation_p.V26I	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	383					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CTTCCTTTGACAGGCTCTGAA	0.388													T	12594616	C	T	12594616	3	4	364	1	0	0	0	0	1	0	0	0	8964	478	17	2	1206	2	LONRF1	8	12594616	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	888995	12594616	133769406	6614	30116											
DLC1	10395	broad.mit.edu	37	chr8	13356716	13356716	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggccattttcagctgAcattccattggggcaggaag	9	10	11	11	0	1	1	1	1	0	0	3	2	3	2	3	4	1	2	3	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356716A>G	ENST00000276297.4	-	2	1274	c.865T>C	c.(865-867)Tca>Cca	p.S289P	DLC1_ENST00000316609.5_Missense_Mutation_p.S289P|DLC1_ENST00000511869.1_Missense_Mutation_p.S289P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	289					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTTCAGCTGACATTCCATTG	0.433													G	13356716	A	G	13356716	3	3	364	1	0	0	0	0	1	0	0	0	4589	275	10	3	3874	3	DLC1	8	13356716	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	762100	13356716	133007306	6615	30117											
DLC1	10395	broad.mit.edu	37	chr8	13356887	13356887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtttccttcgttgctgagCaattacagcagagttaagca	11	12	10	8	1	0	2	0	1	0	1	2	2	1	2	1	1	5	7	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13356887C>T	ENST00000276297.4	-	2	1103	c.694G>A	c.(694-696)Gct>Act	p.A232T	DLC1_ENST00000316609.5_Missense_Mutation_p.A232T|DLC1_ENST00000511869.1_Missense_Mutation_p.A232T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	232					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						CGTTGCTGAGCAATTACAGCA	0.393													T	13356887	C	T	13356887	3	4	364	1	0	0	0	0	1	0	0	0	4589	710	25	2	4045	2	DLC1	8	13356887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171	13356887	133007135	6616	30118											
DLC1	10395	broad.mit.edu	37	chr8	13357024	13357024	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggcttttacttataGagtcagtaacttttctctcc	8	16	6	11	0	2	1	1	0	1	1	5	1	4	1	2	1	2	3	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:13357024G>T	ENST00000276297.4	-	2	966	c.557C>A	c.(556-558)tCt>tAt	p.S186Y	DLC1_ENST00000316609.5_Missense_Mutation_p.S186Y|DLC1_ENST00000511869.1_Missense_Mutation_p.S186Y	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	186					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						TTTACTTATAGAGTCAGTAAC	0.363													T	13357024	G	T	13357024	3	4	364	1	0	0	0	0	1	0	0	0	4589	942	33	4	4182	4	DLC1	8	13357024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137	13357024	133006998	6617	30119											
CNOT7	29883	broad.mit.edu	37	chr8	17089983	17089983	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcaatgaatcagatcCtgcctgatgttgtggtccta	9	13	11	8	0	1	4	1	3	0	1	3	4	3	4	3	1	2	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17089983C>A	ENST00000361272.4	-	6	980	c.682G>T	c.(682-684)Gga>Tga	p.G228*	CNOT7_ENST00000523917.1_Nonsense_Mutation_p.G228*	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	228					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		GAATCAGATCCTGCCTGATGT	0.398													A	17089983	C	A	17089983	4	1	364	1	0	0	0	0	0	1	0	0	3655	690	24	4	189	4	CNOT7	8	17089983	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3732959	17089983	129274039	6618	30120											
CNOT7	29883	broad.mit.edu	37	chr8	17102653	17102653	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctatgatctacagttgcCgctggcatagtgagggcaca	9	10	13	9	1	1	2	0	2	1	0	1	2	1	2	1	3	2	5	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17102653C>T	ENST00000361272.4	-	2	307	c.9G>A	c.(7-9)gcG>gcA	p.A3A	CNOT7_ENST00000518885.1_5'UTR|CNOT7_ENST00000523917.1_Silent_p.A3A	NM_013354.5	NP_037486.2	Q9UIV1	CNOT7_HUMAN	CCR4-NOT transcription complex, subunit 7	3					carbohydrate metabolic process|nuclear-transcribed mRNA poly(A) tail shortening	CCR4-NOT complex|cytoplasmic mRNA processing body|cytosol	nucleic acid binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)	11				Colorectal(111;0.0523)|COAD - Colon adenocarcinoma(73;0.209)		CTACAGTTGCCGCTGGCATAG	0.353													T	17102653	C	T	17102653	2	4	364	1	0	0	0	0	0	0	0	1	3655	639	23	1		1	CNOT7	8	17102653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12670	17102653	129261369	6619	30121											
MTMR7	9108	broad.mit.edu	37	chr8	17170828	17170828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaagattcctgcatccatTatggctttaatgtgccttaa	11	15	7	8	0	0	2	0	1	0	1	2	2	2	2	3	1	2	2	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17170828T>C	ENST00000180173.5	-	8	982	c.948A>G	c.(946-948)atA>atG	p.I316M	MTMR7_ENST00000521857.1_Missense_Mutation_p.I316M	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	316	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		CTGCATCCATTATGGCTTTAA	0.418													C	17170828	T	C	17170828	3	2	364	1	0	0	0	0	1	0	0	0	10024	1744	61	3	1062	3	MTMR7	8	17170828	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68175	17170828	129193194	6620	30122											
SLC7A2	6542	broad.mit.edu	37	chr8	17415834	17415834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtttgacctgaaggCgcttgtggacatgatgtcca	7	14	11	9	1	1	3	0	3	1	0	2	4	2	4	2	2	0	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17415834C>T	ENST00000470360.1	+	10	1460	c.1343C>T	c.(1342-1344)gCg>gTg	p.A448V	SLC7A2_ENST00000494857.1_Missense_Mutation_p.A409V|SLC7A2_ENST00000004531.10_Missense_Mutation_p.A449V|SLC7A2_ENST00000398090.3_Missense_Mutation_p.A448V|SLC7A2_ENST00000522656.1_Missense_Mutation_p.A409V			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	409					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GACCTGAAGGCGCTTGTGGAC	0.507													T	17415834	C	T	17415834	3	4	364	1	0	0	0	0	1	0	0	0	14791	768	27	1	1517	1	SLC7A2	8	17415834	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245006	17415834	128948188	6621	30123											
PDGFRL	5157	broad.mit.edu	37	chr8	17500218	17500218	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtcattacagtggaaGactttgagacgattgatgca	13	11	12	5	1	1	4	1	2	0	3	1	7	1	5	0	1	2	1	0	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17500218G>T	ENST00000541323.1	+	7	1481	c.1036G>T	c.(1036-1038)Gac>Tac	p.D346Y	PDGFRL_ENST00000523248.1_Intron|PDGFRL_ENST00000251630.6_Missense_Mutation_p.D346Y|PDGFRL_ENST00000398074.3_Missense_Mutation_p.D346Y	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	346	Ig-like C2-type 2.					extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		TACAGTGGAAGACTTTGAGAC	0.468													T	17500218	G	T	17500218	3	4	364	1	0	0	0	0	1	0	0	0	11739	942	33	4	1058	4	PDGFRL	8	17500218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84384	17500218	128863804	6622	30124											
MTUS1	57509	broad.mit.edu	37	chr8	17573323	17573323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgagccctggataccaaaGgcttcaaataaaaggatcct	15	8	8	10	0	1	1	1	1	0	0	2	3	2	3	3	3	2	1	3	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17573323G>T	ENST00000381869.3	-	4	2848	c.2375C>A	c.(2374-2376)cCt>cAt	p.P792H	MTUS1_ENST00000381861.3_Missense_Mutation_p.P93H|MTUS1_ENST00000544260.1_5'UTR|MTUS1_ENST00000262102.6_Missense_Mutation_p.P846H|MTUS1_ENST00000519263.1_Missense_Mutation_p.P792H	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	846						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		GGATACCAAAGGCTTCAAATA	0.433													T	17573323	G	T	17573323	3	4	364	1	0	0	0	0	1	0	0	0	10041	1000	35	4	1444	4	MTUS1	8	17573323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73105	17573323	128790699	6623	30125											
MTUS1	57509	broad.mit.edu	37	chr8	17611316	17611316	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccattttctttttcaccCttcttttcagggctaatcct	5	19	4	13	0	4	0	2	0	2	0	6	0	6	0	3	1	0	1	3	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17611316C>T	ENST00000381869.3	-	2	2474	c.2001G>A	c.(1999-2001)aaG>aaA	p.K667K	MTUS1_ENST00000381862.3_Silent_p.K667K|MTUS1_ENST00000262102.6_Silent_p.K667K|MTUS1_ENST00000519263.1_Silent_p.K667K	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	667						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTTTTCACCCTTCTTTTCAG	0.353													T	17611316	C	T	17611316	2	4	364	1	0	0	0	0	0	0	0	1	10041	680	24	2		2	MTUS1	8	17611316	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37993	17611316	128752706	6624	30126											
FGL1	2267	broad.mit.edu	37	chr8	17739544	17739544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttccaagatcaatgacagTattctcatctcctttatcaa	12	14	4	11	0	4	2	3	1	2	1	7	2	5	2	2	0	0	2	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17739544T>C	ENST00000398056.2	-	5	1023	c.208A>G	c.(208-210)Act>Gct	p.T70A	FGL1_ENST00000398054.1_Missense_Mutation_p.T70A|FGL1_ENST00000522444.1_Missense_Mutation_p.T70A|FGL1_ENST00000381841.2_Missense_Mutation_p.T70A|FGL1_ENST00000427924.1_Missense_Mutation_p.T70A|FGL1_ENST00000381840.2_Missense_Mutation_p.T70A|FGL1_ENST00000518650.1_Missense_Mutation_p.T70A			Q08830	FGL1_HUMAN	fibrinogen-like 1	70					signal transduction	fibrinogen complex	receptor binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)	13				Colorectal(111;0.0573)|COAD - Colon adenocarcinoma(73;0.215)		TCAATGACAGTATTCTCATCT	0.443													C	17739544	T	C	17739544	3	2	364	1	0	0	0	0	1	0	0	0	5921	1638	57	3	754	3	FGL1	8	17739544	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	128228	17739544	128624478	6625	30127											
PCM1	5108	broad.mit.edu	37	chr8	17810546	17810546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactagggaggtttcccagaGcaggaaaccatcagcttcag	13	7	11	10	0	2	1	2	0	0	1	3	3	3	3	2	3	4	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17810546G>A	ENST00000325083.8	+	9	1578	c.1139G>A	c.(1138-1140)aGc>aAc	p.S380N	PCM1_ENST00000519253.1_Missense_Mutation_p.S380N|PCM1_ENST00000524226.1_Missense_Mutation_p.S380N|PCM1_ENST00000518537.1_Missense_Mutation_p.S419N	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	380					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTTTCCCAGAGCAGGAAACCA	0.368			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								A	17810546	G	A	17810546	3	1	364	1	0	0	0	0	1	0	0	0	11660	971	34	2	1165	2	PCM1	8	17810546	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71002	17810546	128553476	6626	30128											
PCM1	5108	broad.mit.edu	37	chr8	17814820	17814820	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagtaaatagtcatagtaAtgcacagtgtgtttctaata	15	14	8	4	0	2	1	1	1	1	0	2	1	2	1	0	0	1	4	0	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17814820A>T	ENST00000325083.8	+	12	2133	c.1694A>T	c.(1693-1695)aAt>aTt	p.N565I	PCM1_ENST00000519253.1_Missense_Mutation_p.N565I|PCM1_ENST00000524226.1_Missense_Mutation_p.N565I	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	565					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTCATAGTAATGCACAGTGT	0.358			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								T	17814820	A	T	17814820	3	4	364	1	0	0	0	0	1	0	0	0	11660	101	4	5	1732	5	PCM1	8	17814820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4274	17814820	128549202	6627	30129											
PCM1	5108	broad.mit.edu	37	chr8	17822079	17822079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtctcttaatcactagaaCgatggcaacttggggagggt	11	11	12	7	1	2	1	1	0	1	1	3	3	2	2	0	4	2	1	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:17822079C>T	ENST00000325083.8	+	18	3096	c.2657C>T	c.(2656-2658)aCg>aTg	p.T886M	PCM1_ENST00000519253.1_Missense_Mutation_p.T886M|PCM1_ENST00000524226.1_Missense_Mutation_p.T887M	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	886					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ATCACTAGAACGATGGCAACT	0.418			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								T	17822079	C	T	17822079	3	4	364	1	0	0	0	0	1	0	0	0	11660	536	19	1	2719	1	PCM1	8	17822079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7259	17822079	128541943	6628	30130											
NAT1	9	broad.mit.edu	37	chr8	18080414	18080415	+	Frame_Shift_Ins	INS	-	-	T																															tgcccaaacatggtgatagaINSttttttactatttagaataa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18080414_18080415insT	ENST00000539092.1	+	5	1549_1550	c.858_859insT	c.(859-861)tttfs	p.F287fs	NAT1_ENST00000517492.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000545197.1_Frame_Shift_Ins_p.F349fs|NAT1_ENST00000307719.4_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000518029.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000541942.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000535084.1_Frame_Shift_Ins_p.F287fs|NAT1_ENST00000520546.1_Frame_Shift_Ins_p.F287fs	NM_001160170.1|NM_001160172.1	NP_001153642.1|NP_001153644.1	P18440	ARY1_HUMAN	N-acetyltransferase 1 (arylamine N-acetyltransferase)	287					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(2)|urinary_tract(1)	9				Colorectal(111;0.0519)|COAD - Colon adenocarcinoma(73;0.208)		ATGGTGATAGATTTTTTACTAT	0.342													T	18080415	-	T	18080414	7	5	364	1	0	1	1	0	0	0	0	0	10249	330	12	0	1054	0	NAT1	8	18080414	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	258335	18080414	128283608	6629	30131											
PSD3	23362	broad.mit.edu	37	chr8	18430054	18430054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctgagacagttttgttGtagtggcaggcagaagtggg	9	12	15	5	0	0	2	0	1	0	2	0	3	0	2	1	3	1	5	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:18430054G>A	ENST00000440756.2	-	14	2876	c.2774C>T	c.(2773-2775)aCa>aTa	p.T925I	PSD3_ENST00000428502.2_Missense_Mutation_p.T252I|PSD3_ENST00000523619.1_Missense_Mutation_p.T858I|PSD3_ENST00000327040.8_Missense_Mutation_p.T923I|PSD3_ENST00000286485.8_Missense_Mutation_p.T389I			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	924					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CAGTTTTGTTGTAGTGGCAGG	0.403													A	18430054	G	A	18430054	3	1	364	1	0	0	0	0	1	0	0	0	12733	1377	48	2	387	2	PSD3	8	18430054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	349640	18430054	127933968	6630	30132											
CSGALNACT1	55790	broad.mit.edu	37	chr8	19316023	19316023	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgtgttggccatgttgagCttttcatttttcactttcat	6	19	8	8	1	3	1	3	1	0	0	3	1	3	1	1	1	2	3	1	1	0	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19316023C>T	ENST00000454498.2	-	5	1778	c.765G>A	c.(763-765)aaG>aaA	p.K255K	CSGALNACT1_ENST00000544602.1_Silent_p.K255K|CSGALNACT1_ENST00000311540.4_Silent_p.K255K|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000522854.1_Silent_p.K255K|CSGALNACT1_ENST00000332246.6_Silent_p.K255K	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	255					anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CCATGTTGAGCTTTTCATTTT	0.448													T	19316023	C	T	19316023	2	4	364	1	0	0	0	0	0	0	0	1	3971	796	28	2		2	CSGALNACT1	8	19316023	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	885969	19316023	127047999	6631	30133											
INTS10	55174	broad.mit.edu	37	chr8	19675794	19675794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgttgcagtatgagatGtacaccatcgagcggaatgc	10	11	13	7	2	0	1	0	1	0	1	1	4	0	2	1	1	4	4	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19675794G>A	ENST00000397977.3	+	2	536	c.138G>A	c.(136-138)atG>atA	p.M46I	INTS10_ENST00000521758.1_3'UTR	NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	46					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGTATGAGATGTACACCATCG	0.587													A	19675794	G	A	19675794	3	1	364	1	0	0	0	0	1	0	0	0	7834	1377	48	2	144	2	INTS10	8	19675794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	359771	19675794	126688228	6632	30134											
LPL	4023	broad.mit.edu	37	chr8	19805744	19805744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctaaggacccctgaaGacacagctgaggacacttgc	11	7	10	13	0	0	3	0	2	0	1	0	5	0	5	3	2	3	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:19805744G>T	ENST00000311322.8	+	2	612	c.142G>T	c.(142-144)Gac>Tac	p.D48Y	LPL_ENST00000521994.1_3'UTR	NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	48					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	GACCCCTGAAGACACAGCTGA	0.458													T	19805744	G	T	19805744	3	4	364	1	0	0	0	0	1	0	0	0	8991	942	33	4	148	4	LPL	8	19805744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129950	19805744	126558278	6633	30135											
ATP6V1B2	526	broad.mit.edu	37	chr8	20070400	20070400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagacatgagttcttatgCtgaagcacttcgagaggtaa	14	10	10	7	1	1	4	0	2	1	2	2	5	1	4	0	1	3	4	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20070400C>T	ENST00000276390.2	+	9	951	c.911C>T	c.(910-912)gCt>gTt	p.A304V		NM_001693.3	NP_001684.2	P21281	VATB2_HUMAN	ATPase, H+ transporting, lysosomal 56/58kDa, V1 subunit B2	304					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|endomembrane system|Golgi apparatus|melanosome|plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			endometrium(1)|kidney(2)|lung(5)|prostate(1)	9				Colorectal(74;0.0535)|COAD - Colon adenocarcinoma(73;0.211)		AGTTCTTATGCTGAAGCACTT	0.383													T	20070400	C	T	20070400	3	4	364	1	0	0	0	0	1	0	0	0	1184	797	28	2	945	2	ATP6V1B2	8	20070400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264656	20070400	126293622	6634	30136											
LZTS1	11178	broad.mit.edu	37	chr8	20110344	20110344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctggtcttctccctctcGtaggacctgagcttggtctc	5	13	10	13	1	4	1	0	1	4	0	7	2	4	2	2	3	2	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110344G>A	ENST00000381569.1	-	3	1455	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	LZTS1_ENST00000522290.1_Silent_p.Y366Y|LZTS1_ENST00000265801.6_Silent_p.Y366Y			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	366					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TCTCCCTCTCGTAGGACCTGA	0.642													A	20110344	G	A	20110344	2	1	364	1	0	0	0	0	0	0	0	1	9209	1140	40	1		1	LZTS1	8	20110344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39944	20110344	126253678	6635	30137											
LZTS1	11178	broad.mit.edu	37	chr8	20110545	20110545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtccctgcagcgccgCggccgctcctcgtaggccag	4	6	13	18	6	0	0	0	0	0	0	4	0	2	0	5	2	3	4	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:20110545C>T	ENST00000381569.1	-	3	1254	c.897G>A	c.(895-897)ccG>ccA	p.P299P	LZTS1_ENST00000522290.1_Silent_p.P299P|LZTS1_ENST00000265801.6_Silent_p.P299P			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	299					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGCAGCGCCGCGGCCGCTCCT	0.682													T	20110545	C	T	20110545	2	4	364	1	0	0	0	0	0	0	0	1	9209	755	27	1		1	LZTS1	8	20110545	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201	20110545	126253477	6636	30138											
GFRA2	2675	broad.mit.edu	37	chr8	21560348	21560348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcaggtggtgatgacactgGtccccaagctggtactgtca	8	10	13	10	0	1	2	1	2	0	0	2	2	2	2	2	4	3	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21560348G>A	ENST00000524240.1	-	7	1837	c.1187C>T	c.(1186-1188)aCc>aTc	p.T396I	GFRA2_ENST00000517328.1_Missense_Mutation_p.T396I|GFRA2_ENST00000400782.4_Missense_Mutation_p.T291I|GFRA2_ENST00000518077.1_Missense_Mutation_p.T263I	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	396						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GATGACACTGGTCCCCAAGCT	0.622													A	21560348	G	A	21560348	3	1	364	1	0	0	0	0	1	0	0	0	6404	1261	44	2	219	2	GFRA2	8	21560348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1449803	21560348	124803674	6637	30139											
DOK2	9046	broad.mit.edu	37	chr8	21771103	21771103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccttgtttcactgcccCgtctcccatcctctgaccat	6	12	6	17	1	3	1	1	1	2	0	5	2	4	1	6	0	2	1	6	0	1	2	rs149394218	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21771103C>T	ENST00000276420.4	-	1	268	c.10G>A	c.(10-12)Ggg>Agg	p.G4R	DOK2_ENST00000544659.1_5'UTR	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	4	PH.				blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		TTCACTGCCCCGTCTCCCATC	0.587													T	21771103	C	T	21771103	3	4	364	1	0	0	0	0	1	0	0	0	4736	652	23	1	1248	1	DOK2	8	21771103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210755	21771103	124592919	6638	30140											
XPO7	23039	broad.mit.edu	37	chr8	21833992	21833992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgatgagtcctcagaCgacctgtgtacagtgcagat	10	10	10	11	1	1	4	1	2	0	2	3	5	3	4	3	0	2	2	3	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21833992C>T	ENST00000434536.1	+	7	852	c.750C>T	c.(748-750)gaC>gaT	p.D250D	XPO7_ENST00000518017.1_3'UTR|XPO7_ENST00000433566.4_Silent_p.D242D|XPO7_ENST00000252512.9_Silent_p.D241D			Q9UIA9	XPO7_HUMAN	exportin 7	241					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		AGTCCTCAGACGACCTGTGTA	0.498													T	21833992	C	T	21833992	2	4	364	1	0	0	0	0	0	0	0	1	17551	535	19	1		1	XPO7	8	21833992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62889	21833992	124530030	6639	30141											
XPO7	23039	broad.mit.edu	37	chr8	21848376	21848376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccaacctgacagacatgCggtgtcggactaccttctac	10	9	9	13	2	1	2	0	1	1	1	3	3	2	3	3	2	4	0	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21848376C>T	ENST00000434536.1	+	18	2116	c.2014C>T	c.(2014-2016)Cgg>Tgg	p.R672W	XPO7_ENST00000433566.4_Missense_Mutation_p.R664W|XPO7_ENST00000252512.9_Missense_Mutation_p.R663W			Q9UIA9	XPO7_HUMAN	exportin 7	663					mRNA transport|protein export from nucleus|transmembrane transport	cytoplasm|nuclear pore	nuclear export signal receptor activity|protein transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				Colorectal(74;0.0187)|COAD - Colon adenocarcinoma(73;0.0724)		GACAGACATGCGGTGTCGGAC	0.418													T	21848376	C	T	21848376	3	4	364	1	0	0	0	0	1	0	0	0	17551	759	27	1	2109	1	XPO7	8	21848376	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14384	21848376	124515646	6640	30142											
FAM160B2	64760	broad.mit.edu	37	chr8	21955336	21955336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggacccagagctgctcGcctacatcctggaagtgagc	10	6	12	13	1	0	2	0	1	0	1	2	4	1	4	3	2	5	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21955336G>A	ENST00000289921.7	+	5	557	c.511G>A	c.(511-513)Gcc>Acc	p.A171T		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	171										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						AGAGCTGCTCGCCTACATCCT	0.617													A	21955336	G	A	21955336	3	1	364	1	0	0	0	0	1	0	0	0	5516	1087	38	1	529	1	FAM160B2	8	21955336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106960	21955336	124408686	6641	30143											
FAM160B2	64760	broad.mit.edu	37	chr8	21957283	21957283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgccagcttcgctcccctgCgctgctgcgggaggccgtgg	2	7	16	16	5	0	0	0	0	0	0	2	1	1	1	4	3	4	4	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21957283C>T	ENST00000289921.7	+	10	1266	c.1220C>T	c.(1219-1221)gCg>gTg	p.A407V		NM_022749.5	NP_073586.5	Q86V87	F16B2_HUMAN	family with sequence similarity 160, member B2	407										endometrium(2)|kidney(1)|lung(2)|prostate(3)|urinary_tract(1)	9						CGCTCCCCTGCGCTGCTGCGG	0.672													T	21957283	C	T	21957283	3	4	364	1	0	0	0	0	1	0	0	0	5516	768	27	1	1057	1	FAM160B2	8	21957283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1947	21957283	124406739	6642	30144											
HR	55806	broad.mit.edu	37	chr8	21984708	21984708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctccctggacctcggggCtgcctgcccttttgagggcc	2	11	13	15	1	0	1	0	1	0	0	2	2	1	2	5	4	3	2	5	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:21984708C>A	ENST00000381418.4	-	3	2727	c.1247G>T	c.(1246-1248)aGc>aTc	p.S416I	HR_ENST00000312841.8_Missense_Mutation_p.S416I	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	416							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GACCTCGGGGCTGCCTGCCCT	0.677													A	21984708	C	A	21984708	3	1	364	1	0	0	0	0	1	0	0	0	7402	797	28	4	2390	4	HR	8	21984708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27425	21984708	124379314	6643	30145											
LGI3	203190	broad.mit.edu	37	chr8	22006277	22006277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggcgcctgccttggagCtgtcagccacggcaaagtac	7	8	14	12	2	1	0	1	0	0	0	1	1	1	1	3	4	4	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22006277C>T	ENST00000306317.2	-	8	1332	c.1043G>A	c.(1042-1044)aGc>aAc	p.S348N	LGI3_ENST00000424267.2_Missense_Mutation_p.S324N	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	348					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		TGCCTTGGAGCTGTCAGCCAC	0.617													T	22006277	C	T	22006277	3	4	364	1	0	0	0	0	1	0	0	0	8813	797	28	2	607	2	LGI3	8	22006277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21569	22006277	124357745	6644	30146											
LGI3	203190	broad.mit.edu	37	chr8	22011708	22011708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggatagtgcccagatGtcattgttctcaatgaagct	11	13	9	8	0	2	2	2	1	1	1	3	3	2	3	1	1	3	2	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22011708G>A	ENST00000306317.2	-	4	658	c.369C>T	c.(367-369)gaC>gaT	p.D123D	LGI3_ENST00000424267.2_Intron	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	123					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		GTGCCCAGATGTCATTGTTCT	0.557													A	22011708	G	A	22011708	2	1	364	1	0	0	0	0	0	0	0	1	8813	1368	48	2		2	LGI3	8	22011708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5431	22011708	124352314	6645	30147											
BMP1	649	broad.mit.edu	37	chr8	22051656	22051656	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccgcagcagcagcaattgGgttggaaagggcttctttgc	8	11	13	9	1	1	0	0	0	1	0	2	1	2	1	1	3	4	6	1	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22051656G>T	ENST00000306385.5	+	10	1936	c.1266G>T	c.(1264-1266)tgG>tgT	p.W422C	BMP1_ENST00000397816.3_Missense_Mutation_p.W422C|BMP1_ENST00000306349.8_Missense_Mutation_p.W422C|BMP1_ENST00000397814.3_Missense_Mutation_p.W422C|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	422	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GCAGCAATTGGGTTGGAAAGG	0.577													T	22051656	G	T	22051656	3	4	364	1	0	0	0	0	1	0	0	0	1462	1241	43	4	1304	4	BMP1	8	22051656	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39948	22051656	124312366	6646	30148											
BMP1	649	broad.mit.edu	37	chr8	22052380	22052380	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgcctctggctcaagttCgtctctgacgggtccattaa	7	11	10	13	3	3	1	1	1	2	0	6	1	4	1	3	2	1	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22052380C>T	ENST00000306385.5	+	12	2257	c.1587C>T	c.(1585-1587)ttC>ttT	p.F529F	BMP1_ENST00000397816.3_Silent_p.F529F|BMP1_ENST00000306349.8_Silent_p.F529F|BMP1_ENST00000397814.3_Silent_p.F529F|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	529	CUB 2.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		GGCTCAAGTTCGTCTCTGACG	0.577													T	22052380	C	T	22052380	2	4	364	1	0	0	0	0	0	0	0	1	1462	883	31	1		1	BMP1	8	22052380	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	724	22052380	124311642	6647	30149											
BMP1	649	broad.mit.edu	37	chr8	22054225	22054225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattcctcaccaagctcaacGgctccatcaccagcccgggc	9	6	8	18	2	3	0	3	0	0	0	5	1	5	0	5	2	3	2	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22054225G>A	ENST00000306385.5	+	14	2468	c.1798G>A	c.(1798-1800)Ggc>Agc	p.G600S	BMP1_ENST00000397816.3_Missense_Mutation_p.G600S|BMP1_ENST00000306349.8_Missense_Mutation_p.G600S|BMP1_ENST00000354870.5_3'UTR	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	600	CUB 3.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CAAGCTCAACGGCTCCATCAC	0.647													A	22054225	G	A	22054225	3	1	364	1	0	0	0	0	1	0	0	0	1462	1116	39	1	1852	1	BMP1	8	22054225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1845	22054225	124309797	6648	30150											
BMP1	649	broad.mit.edu	37	chr8	22056812	22056812	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttttgggacacccaccgAggagaccctaagccaagaag	13	5	11	12	1	0	2	0	0	0	2	0	6	0	3	4	2	1	0	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22056812A>G	ENST00000397816.3	+	16	2604	c.2385A>G	c.(2383-2385)cgA>cgG	p.R795R	BMP1_ENST00000306385.5_Intron|BMP1_ENST00000306349.8_Intron|BMP1_ENST00000354870.5_Intron			P13497	BMP1_HUMAN	bone morphogenetic protein 1	0	CUB 4.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		ACACCCACCGAGGAGACCCTA	0.622													G	22056812	A	G	22056812	2	3	364	1	0	0	0	0	0	0	0	1	1462	319	11	3		3	BMP1	8	22056812	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2587	22056812	124307210	6649	30151											
PHYHIP	9796	broad.mit.edu	37	chr8	22085844	22085844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatgttgttgatctcaatGctgtggggcgtggacagcag	7	12	16	6	1	1	2	1	2	1	0	2	3	1	3	0	3	2	4	0	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22085844G>A	ENST00000454243.2	-	2	601	c.27C>T	c.(25-27)agC>agT	p.S9S	PHYHIP_ENST00000321613.3_Silent_p.S9S	NM_014759.3	NP_055574.3	Q92561	PHYIP_HUMAN	phytanoyl-CoA 2-hydroxylase interacting protein	9	Fibronectin type-III.									endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	10				Colorectal(74;0.0152)|COAD - Colon adenocarcinoma(73;0.0629)		TGATCTCAATGCTGTGGGGCG	0.577													A	22085844	G	A	22085844	2	1	364	1	0	0	0	0	0	0	0	1	11943	1310	46	2		2	PHYHIP	8	22085844	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29032	22085844	124278178	6650	30152											
PIWIL2	55124	broad.mit.edu	37	chr8	22211839	22211839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctgtggcattcctacgCattatgtctgtgttctcaac	7	14	10	10	1	2	0	1	0	2	0	4	0	3	0	1	2	2	4	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22211839C>T	ENST00000356766.6	+	22	2861	c.2713C>T	c.(2713-2715)Cat>Tat	p.H905Y	PIWIL2_ENST00000454009.2_Missense_Mutation_p.H905Y|PIWIL2_ENST00000521356.1_Intron	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	905	Piwi.				DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		CATTCCTACGCATTATGTCTG	0.458													T	22211839	C	T	22211839	3	4	364	1	0	0	0	0	1	0	0	0	12035	710	25	2	2795	2	PIWIL2	8	22211839	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125995	22211839	124152183	6651	30153											
SLC39A14	23516	broad.mit.edu	37	chr8	22273680	22273680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgatcactctgagcgacgGcctccataatttcatcgatg	10	11	9	11	3	3	2	2	2	1	0	5	5	4	2	2	1	1	0	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22273680G>A	ENST00000381237.1	+	7	1153	c.1034G>A	c.(1033-1035)gGc>gAc	p.G345D	SLC39A14_ENST00000289952.5_Missense_Mutation_p.G345D|SLC39A14_ENST00000240095.6_Missense_Mutation_p.G345D|SLC39A14_ENST00000359741.5_Missense_Mutation_p.G345D	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	345						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CTGAGCGACGGCCTCCATAAT	0.557													A	22273680	G	A	22273680	3	1	364	1	0	0	0	0	1	0	0	0	14711	1203	42	2	1230	2	SLC39A14	8	22273680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61841	22273680	124090342	6652	30154											
SLC39A14	23516	broad.mit.edu	37	chr8	22275310	22275310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaactggatttttgcgctaGctggaggaatgttcttgtat	8	15	11	7	1	1	0	0	0	1	0	1	3	1	3	1	3	3	4	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22275310G>A	ENST00000381237.1	+	8	1413	c.1294G>A	c.(1294-1296)Gct>Act	p.A432T	SLC39A14_ENST00000289952.5_Missense_Mutation_p.A432T|SLC39A14_ENST00000240095.6_Missense_Mutation_p.A432T|SLC39A14_ENST00000359741.5_Missense_Mutation_p.A432T	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	432						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		TTTTGCGCTAGCTGGAGGAAT	0.512													A	22275310	G	A	22275310	3	1	364	1	0	0	0	0	1	0	0	0	14711	971	34	2	1494	2	SLC39A14	8	22275310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1630	22275310	124088712	6653	30155											
PPP3CC	5533	broad.mit.edu	37	chr8	22368598	22368598	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggttttccttttttgttaGgtcgaatcaaatattcggaa	9	18	8	6	2	1	0	1	0	0	0	4	2	2	1	1	3	0	2	1	3	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22368598G>T	ENST00000240139.5	+	5	811		c.e5-1		PPP3CC_ENST00000397775.3_Splice_Site|PPP3CC_ENST00000518852.1_Splice_Site|PPP3CC_ENST00000289963.8_Splice_Site	NM_005605.4	NP_005596.2	P48454	PP2BC_HUMAN	protein phosphatase 3, catalytic subunit, gamma isozyme						activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	cytosol	calmodulin binding|metal ion binding|phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17		Prostate(55;0.104)		BRCA - Breast invasive adenocarcinoma(99;0.00756)|Colorectal(74;0.0238)|COAD - Colon adenocarcinoma(73;0.0835)		TTTTTTGTTAGGTCGAATCAA	0.388													T	22368598	G	T	22368598	5	4	364	1	0	0	0	0	0	0	1	0	12481	1014	35	4	502	4	PPP3CC	8	22368598	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93288	22368598	123995424	6654	30156											
BIN3	55909	broad.mit.edu	37	chr8	22479052	22479052	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgggacaggtctccaaaGatcttgtgcatttccgagta	10	12	11	8	1	2	2	0	1	2	1	4	4	3	3	2	2	1	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22479052G>T	ENST00000276416.6	-	9	713	c.645C>A	c.(643-645)atC>atA	p.I215I	BIN3_ENST00000519513.1_Silent_p.I161I|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Silent_p.I167I	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	215	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGTCTCCAAAGATCTTGTGCA	0.622													T	22479052	G	T	22479052	2	4	364	1	0	0	0	0	0	0	0	1	1440	932	33	4		4	BIN3	8	22479052	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110454	22479052	123884970	6655	30157											
BIN3	55909	broad.mit.edu	37	chr8	22481832	22481832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgcaaggcctgttccCgcctcttcacagccatgttg	6	11	9	15	1	2	0	1	0	1	0	4	0	4	0	5	1	2	3	5	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22481832C>T	ENST00000276416.6	-	7	451	c.383G>A	c.(382-384)cGg>cAg	p.R128Q	BIN3_ENST00000519513.1_Missense_Mutation_p.R74Q|BIN3_ENST00000519335.1_5'UTR|BIN3_ENST00000399977.4_Missense_Mutation_p.R80Q	NM_018688.4	NP_061158.1	Q9NQY0	BIN3_HUMAN	bridging integrator 3	128	BAR.				actin filament organization|barrier septum formation|cell cycle|protein localization|unidimensional cell growth	cytoplasm|cytoskeleton	cytoskeletal adaptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	9		Prostate(55;0.0424)|Breast(100;0.102)|all_epithelial(46;0.143)		BRCA - Breast invasive adenocarcinoma(99;0.00664)|Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GGCCTGTTCCCGCCTCTTCAC	0.607													T	22481832	C	T	22481832	3	4	364	1	0	0	0	0	1	0	0	0	1440	652	23	1	390	1	BIN3	8	22481832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2780	22481832	123882190	6656	30158											
EGR3	1960	broad.mit.edu	37	chr8	22548564	22548564	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttggggtggtggtagaGgttgtagtcaggaatcatgg	7	12	19	3	1	2	1	2	0	0	1	3	2	2	2	0	7	0	4	0	7	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22548564G>T	ENST00000317216.2	-	2	943	c.586C>A	c.(586-588)Ctc>Atc	p.L196I	RP11-459E5.1_ENST00000523627.1_RNA|EGR3_ENST00000522910.1_Missense_Mutation_p.L158I|EGR3_ENST00000519492.1_3'UTR|EGR3_ENST00000524088.1_5'UTR	NM_001199881.1|NM_004430.2	NP_001186810.1|NP_004421.2	Q06889	EGR3_HUMAN	early growth response 3	196					circadian rhythm|muscle organ development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		Prostate(55;0.0421)|Breast(100;0.102)		Colorectal(74;0.0145)|BRCA - Breast invasive adenocarcinoma(99;0.053)|COAD - Colon adenocarcinoma(73;0.0608)		TGGTGGTAGAGGTTGTAGTCA	0.617													T	22548564	G	T	22548564	3	4	364	1	0	0	0	0	1	0	0	0	5012	1000	35	4	581	4	EGR3	8	22548564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66732	22548564	123815458	6657	30159											
PEBP4	157310	broad.mit.edu	37	chr8	22584731	22584731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctttcttcaggtcggcGccctgaaagaagagacaagc	10	9	10	12	2	2	3	1	1	1	2	4	4	3	3	2	2	1	0	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22584731G>A	ENST00000256404.6	-	5	451	c.360C>T	c.(358-360)ggC>ggT	p.G120G	RP11-459E5.1_ENST00000523627.1_RNA	NM_144962.2	NP_659399.2	Q96S96	PEBP4_HUMAN	phosphatidylethanolamine-binding protein 4	120						lysosome		p.G120G(1)		breast(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|stomach(2)	10		Prostate(55;0.0453)|Breast(100;0.103)		Colorectal(74;0.0434)|COAD - Colon adenocarcinoma(73;0.124)		TCAGGTCGGCGCCCTGAAAGA	0.572													A	22584731	G	A	22584731	2	1	364	1	0	0	0	0	0	0	0	1	11790	1074	38	1		1	PEBP4	8	22584731	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36167	22584731	123779291	6658	30160											
TNFRSF10B	8795	broad.mit.edu	37	chr8	22900721	22900721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctctctgctggggagctagGtcttgttgggtgatcagagc	5	12	16	8	0	3	2	1	1	2	1	4	3	3	3	0	4	3	4	0	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:22900721G>A	ENST00000276431.4	-	2	464	c.180C>T	c.(178-180)gaC>gaT	p.D60D	TNFRSF10B_ENST00000542226.1_Intron|TNFRSF10B_ENST00000519910.1_5'UTR|TNFRSF10B_ENST00000347739.3_Silent_p.D60D	NM_003842.4|NM_147187.2	NP_003833.4|NP_671716.2	O14763	TR10B_HUMAN	tumor necrosis factor receptor superfamily, member 10b	60					activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cell surface receptor linked signaling pathway|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|positive regulation of I-kappaB kinase/NF-kappaB cascade	plasma membrane	caspase activator activity|receptor activity|TRAIL binding			NS(1)|endometrium(2)|large_intestine(7)|liver(1)|lung(3)|skin(1)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0179)|COAD - Colon adenocarcinoma(73;0.0703)		GGGGAGCTAGGTCTTGTTGGG	0.572													A	22900721	G	A	22900721	2	1	364	1	0	0	0	0	0	0	0	1	16381	1252	44	2		2	TNFRSF10B	8	22900721	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315990	22900721	123463301	6659	30161											
TNFRSF10D	8793	broad.mit.edu	37	chr8	23003220	23003220	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaaatgaatttcttccGacatgaaaagccaaccacaa	18	8	6	9	1	1	3	0	2	1	1	2	4	2	3	3	0	2	1	3	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23003220G>T	ENST00000312584.3	-	5	791	c.697C>A	c.(697-699)Cgg>Agg	p.R233R		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	233					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		AATTTCTTCCGACATGAAAAG	0.517													T	23003220	G	T	23003220	2	4	364	1	0	0	0	0	0	0	0	1	16383	1057	37	4		4	TNFRSF10D	8	23003220	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102499	23003220	123360802	6660	30162											
LOXL2	4017	broad.mit.edu	37	chr8	23155602	23155602	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagcccgctgaagtgctcaAactttttttccgtctcttcg	7	14	8	12	3	2	2	1	1	1	1	5	2	3	2	2	0	3	2	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23155602A>G	ENST00000389131.3	-	14	2648	c.2279T>C	c.(2278-2280)tTt>tCt	p.F760S		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	760					aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GAAGTGCTCAAACTTTTTTTC	0.537													G	23155602	A	G	23155602	3	3	364	1	0	0	0	0	1	0	0	0	8970	14	1	3	49	3	LOXL2	8	23155602	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	152382	23155602	123208420	6661	30163											
LOXL2	4017	broad.mit.edu	37	chr8	23167278	23167278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagaagcgcaggagccGgcggtagcccgtggtggggt	7	4	22	8	4	0	1	0	0	0	1	0	4	0	3	2	8	3	2	2	8	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23167278G>A	ENST00000389131.3	-	10	2152	c.1783C>T	c.(1783-1785)Cgg>Tgg	p.R595W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	595	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		CGCAGGAGCCGGCGGTAGCCC	0.652													A	23167278	G	A	23167278	3	1	364	1	0	0	0	0	1	0	0	0	8970	1115	39	1	561	1	LOXL2	8	23167278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11676	23167278	123196744	6662	30164											
LOXL2	4017	broad.mit.edu	37	chr8	23177529	23177529	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaccagcacctccactcGgccctcgtagggattgcggc	6	7	10	18	3	0	0	0	0	0	0	4	1	2	1	5	3	2	2	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23177529G>A	ENST00000389131.3	-	8	1708	c.1339C>T	c.(1339-1341)Cga>Tga	p.R447*		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	447	SRCR 4.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		ACCTCCACTCGGCCCTCGTAG	0.652													A	23177529	G	A	23177529	4	1	364	1	0	0	0	0	0	1	0	0	8970	1124	39	1	1013	1	LOXL2	8	23177529	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10251	23177529	123186493	6663	30165											
LOXL2	4017	broad.mit.edu	37	chr8	23217682	23217682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccacaccgacatcctccGtgtgcttgcagtcagtgacg	9	8	9	15	3	1	1	1	1	0	0	3	2	3	1	4	0	2	2	4	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:23217682G>A	ENST00000389131.3	-	3	821	c.452C>T	c.(451-453)aCg>aTg	p.T151M	RP11-177H13.2_ENST00000519692.1_RNA	NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	151	SRCR 1.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity	p.T151M(1)		breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		GACATCCTCCGTGTGCTTGCA	0.527													A	23217682	G	A	23217682	3	1	364	1	0	0	0	0	1	0	0	0	8970	1145	40	1	1920	1	LOXL2	8	23217682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40153	23217682	123146340	6664	30166											
ADAM28	10863	broad.mit.edu	37	chr8	24170973	24170973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacatcgggatggacaggaGcatgcactcttcaagtataa	14	9	10	8	1	2	0	1	0	1	0	3	3	2	3	0	3	3	3	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24170973G>A	ENST00000265769.4	+	6	566	c.456G>A	c.(454-456)gaG>gaA	p.E152E	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Silent_p.E152E|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Intron|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	152					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGACAGGAGCATGCACTCT	0.468													A	24170973	G	A	24170973	2	1	364	1	0	0	0	0	0	0	0	1	246	962	34	2		2	ADAM28	8	24170973	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	953291	24170973	122193049	6665	30167											
ADAM28	10863	broad.mit.edu	37	chr8	24188819	24188819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggaaatgggagaggaCtgtgattgtgggacatctga	10	11	17	3	0	1	3	0	2	1	1	1	7	1	6	0	5	0	0	0	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24188819C>A	ENST00000265769.4	+	12	1370	c.1260C>A	c.(1258-1260)gaC>gaA	p.D420E	RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.D420E|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000540823.1_Missense_Mutation_p.D187E|ADAM28_ENST00000397649.3_Missense_Mutation_p.D167E|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	420	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGGGAGAGGACTGTGATTGTG	0.393													A	24188819	C	A	24188819	3	1	364	1	0	0	0	0	1	0	0	0	246	564	20	4	1306	4	ADAM28	8	24188819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17846	24188819	122175203	6666	30168											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24250788	24250788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaggaaaggtatgaacCtgaagttcaatatcagatga	15	12	9	5	0	3	4	3	3	0	1	3	5	3	5	1	2	1	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24250788C>T	ENST00000256412.4	+	3	441	c.221C>T	c.(220-222)cCt>cTt	p.P74L	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|ADAMDEC1_ENST00000538205.1_5'UTR	NM_014479.3	NP_055294.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	74					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		AGGTATGAACCTGAAGTTCAA	0.284													T	24250788	C	T	24250788	3	4	364	1	0	0	0	0	1	0	0	0	254	681	24	2	231	2	ADAMDEC1	8	24250788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61969	24250788	122113234	6667	30169											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24256482	24256482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccagcgcaagcaccacGtttgacaacttcctgagatg	10	8	10	13	2	0	2	0	2	0	1	1	3	1	2	3	0	4	3	3	0	2	2	rs7018313	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256482G>A	ENST00000538205.1	+	10	1168	c.621G>A	c.(619-621)acG>acA	p.T207T	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Silent_p.T207T|ADAMDEC1_ENST00000256412.4_Silent_p.T286T|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	286					integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		CAAGCACCACGTTTGACAACT	0.488													A	24256482	G	A	24256482	2	1	364	1	0	0	0	0	0	0	0	1	254	1132	40	1		1	ADAMDEC1	8	24256482	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5694	24256482	122107540	6668	30170											
ADAMDEC1	27299	broad.mit.edu	37	chr8	24256926	24256926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggattagcttcaacaatcGacgtgtgggactggcagctt	9	10	13	9	3	1	0	1	0	0	0	2	3	1	2	0	3	3	3	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24256926G>A	ENST00000538205.1	+	11	1260	c.713G>A	c.(712-714)cGa>cAa	p.R238Q	RP11-624C23.1_ENST00000523578.1_RNA|ADAMDEC1_ENST00000522298.1_Missense_Mutation_p.R238Q|ADAMDEC1_ENST00000256412.4_Missense_Mutation_p.R317Q|RP11-624C23.1_ENST00000519689.1_RNA	NM_001145271.1	NP_001138743.1	O15204	ADEC1_HUMAN	ADAM-like, decysin 1	317	Peptidase M12B.				integrin-mediated signaling pathway|negative regulation of cell adhesion|proteolysis	extracellular region|integral to membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|large_intestine(4)|skin(2)|stomach(1)	9		Prostate(55;0.0181)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)|BRCA - Breast invasive adenocarcinoma(99;0.168)		TTCAACAATCGACGTGTGGGA	0.388													A	24256926	G	A	24256926	3	1	364	1	0	0	0	0	1	0	0	0	254	1058	37	1	988	1	ADAMDEC1	8	24256926	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444	24256926	122107096	6669	30171											
ADAM7	8756	broad.mit.edu	37	chr8	24324368	24324368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccagtgaaatactcagAtgagggagaacatttggtgt	14	10	12	5	0	1	5	1	3	0	2	1	6	1	5	1	2	3	0	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24324368A>G	ENST00000175238.6	+	6	529	c.446A>G	c.(445-447)gAt>gGt	p.D149G	RP11-624C23.1_ENST00000523578.1_RNA|ADAM7_ENST00000441335.2_Missense_Mutation_p.D149G|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.D149G	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	149					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AAATACTCAGATGAGGGAGAA	0.388													G	24324368	A	G	24324368	3	3	364	1	0	0	0	0	1	0	0	0	251	333	12	3	468	3	ADAM7	8	24324368	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67442	24324368	122039654	6670	30172											
NEFL	4747	broad.mit.edu	37	chr8	24811116	24811116	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcagcctcaatggtttcctCcacttcgatctgctcctctt	5	14	7	15	1	3	0	1	0	2	0	7	1	6	0	4	2	2	3	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:24811116C>T	ENST00000221169.5	-	0	1957							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		ATGGTTTCCTCCACTTCGATC	0.582													T	24811116	C	T	24811116	1	4	364	0	1	0	0	0	0	0	0	0	10391	864	30	2		2	NEFL	8	24811116	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	486748	24811116	121552906	6671	30173											
DOCK5	80005	broad.mit.edu	37	chr8	25159865	25159865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagcatggacctcatcCggccccgcgtcagccttgtg	6	9	11	15	3	2	0	2	0	0	0	3	1	3	1	5	2	3	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25159865C>T	ENST00000276440.7	+	10	915	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W	DOCK5_ENST00000481100.1_Missense_Mutation_p.R291W	NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	291						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCTCATCCGGCCCCGCGT	0.557													T	25159865	C	T	25159865	3	4	364	1	0	0	0	0	1	0	0	0	4729	643	23	1	909	1	DOCK5	8	25159865	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348749	25159865	121204157	6672	30174											
DOCK5	80005	broad.mit.edu	37	chr8	25224467	25224467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccttctcacaagccaagCgcaacaaaattgttaaaaag	19	7	5	10	1	1	0	1	0	1	0	2	0	1	0	2	0	4	2	2	0	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25224467C>T	ENST00000276440.7	+	31	3249	c.3205C>T	c.(3205-3207)Cgc>Tgc	p.R1069C		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1069						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		ACAAGCCAAGCGCAACAAAAT	0.383													T	25224467	C	T	25224467	3	4	364	1	0	0	0	0	1	0	0	0	4729	768	27	1	3327	1	DOCK5	8	25224467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64602	25224467	121139555	6673	30175											
DOCK5	80005	broad.mit.edu	37	chr8	25230229	25230229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagctgcactgtgaacGtgctggtatgtgacatgcct	8	12	13	8	1	0	3	0	3	0	0	0	3	0	3	1	1	5	5	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25230229G>A	ENST00000276440.7	+	35	3723	c.3679G>A	c.(3679-3681)Gtg>Atg	p.V1227M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1227	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CACTGTGAACGTGCTGGTATG	0.557													A	25230229	G	A	25230229	3	1	364	1	0	0	0	0	1	0	0	0	4729	1145	40	1	3817	1	DOCK5	8	25230229	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5762	25230229	121133793	6674	30176											
DOCK5	80005	broad.mit.edu	37	chr8	25249495	25249495	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccagacaatgaatttgCtgtgagttcaccccttttgt	9	14	9	9	0	1	3	1	2	0	1	2	4	2	4	3	1	1	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25249495C>A	ENST00000276440.7	+	43	4483	c.4439C>A	c.(4438-4440)gCt>gAt	p.A1480D		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1480	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AATGAATTTGCTGTGAGTTCA	0.522													A	25249495	C	A	25249495	5	1	364	1	0	0	0	0	0	0	1	0	4729	811	28	4	4609	4	DOCK5	8	25249495	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19266	25249495	121114527	6675	30177											
EBF2	64641	broad.mit.edu	37	chr8	25890667	25890667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttttcttttcgcagcatCgactgtagattgggaaggaa	10	13	11	7	2	1	1	0	0	1	1	3	4	1	3	0	2	2	4	0	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:25890667C>T	ENST00000520164.1	-	6	1022	c.485G>A	c.(484-486)cGa>cAa	p.R162Q	EBF2_ENST00000408929.3_Missense_Mutation_p.R14Q	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	162		Interaction with DNA (By similarity).			multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		TTCGCAGCATCGACTGTAGAT	0.398													T	25890667	C	T	25890667	3	4	364	1	0	0	0	0	1	0	0	0	4920	884	31	1	1286	1	EBF2	8	25890667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	641172	25890667	120473355	6676	30178											
PPP2R2A	5520	broad.mit.edu	37	chr8	26217769	26217769	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggatggaaggtataGagatcctactacagttacta	15	9	12	5	0	0	2	0	0	0	2	1	6	1	5	1	4	3	2	1	4	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26217769G>T	ENST00000380737.3	+	5	760	c.431G>T	c.(430-432)aGa>aTa	p.R144I	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.R154I	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAGGTATAGAGATCCTACT	0.343													T	26217769	G	T	26217769	3	4	364	1	0	0	0	0	1	0	0	0	12466	942	33	4	490	4	PPP2R2A	8	26217769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327102	26217769	120146253	6677	30179											
PPP2R2A	5520	broad.mit.edu	37	chr8	26221333	26221333	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatagtggtcgatataTgatgactagagactatttgt	12	13	10	6	1	0	3	0	2	0	1	1	5	0	3	1	1	1	0	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26221333T>C	ENST00000380737.3	+	8	1228	c.899T>C	c.(898-900)aTg>aCg	p.M300T	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.M310T	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGTCGATATATGATGACTAGA	0.363													C	26221333	T	C	26221333	3	2	364	1	0	0	0	0	1	0	0	0	12466	1464	51	3	970	3	PPP2R2A	8	26221333	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3564	26221333	120142689	6678	30180											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227731	26227731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacataaccctagaagcatcGcgggaaaacaataagcctcg	16	5	9	11	3	0	1	0	0	0	1	2	3	0	2	2	1	4	1	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26227731G>A	ENST00000380737.3	+	10	1475	c.1146G>A	c.(1144-1146)tcG>tcA	p.S382S	PPP2R2A_ENST00000315985.7_Silent_p.S392S	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.S382S(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TAGAAGCATCGCGGGAAAACA	0.418													A	26227731	G	A	26227731	2	1	364	1	0	0	0	0	0	0	0	1	12466	1074	38	1		1	PPP2R2A	8	26227731	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6398	26227731	120136291	6679	30181											
PNMA2	10687	broad.mit.edu	37	chr8	26366088	26366088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagtaagacagcattggCattctcctgcttccggaata	10	12	8	11	1	2	1	0	0	2	1	4	2	3	2	2	2	2	4	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26366088C>T	ENST00000522362.2	-	3	1078	c.184G>A	c.(184-186)Gcc>Acc	p.A62T		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	62					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		acagcattggcattctcctgc	0.502													T	26366088	C	T	26366088	3	4	364	1	0	0	0	0	1	0	0	0	12231	710	25	2	914	2	PNMA2	8	26366088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138357	26366088	119997934	6680	30182											
ADRA1A	148	broad.mit.edu	37	chr8	26623572	26623572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctacctggagatcagCattctgaaccctttctccac	9	11	6	15	0	3	2	1	1	2	1	5	3	4	2	4	1	4	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26623572C>T	ENST00000354550.4	-	3	1563	c.1364G>A	c.(1363-1365)tGc>tAc	p.C455Y	ADRA1A_ENST00000380586.1_Intron|ADRA1A_ENST00000380582.3_Intron|ADRA1A_ENST00000519229.1_Intron|ADRA1A_ENST00000380587.1_Intron|ADRA1A_ENST00000380581.2_Intron	NM_033304.2	NP_150647.2	P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	0					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	TGGAGATCAGCATTCTGAACC	0.448													T	26623572	C	T	26623572	3	4	364	1	0	0	0	0	1	0	0	0	334	710	25	2	195	2	ADRA1A	8	26623572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257484	26623572	119740450	6681	30183											
ADRA1A	148	broad.mit.edu	37	chr8	26721922	26721922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtagaaggagcccagcgCtgagaagagcacgtagcccg	12	3	15	11	3	0	3	0	1	0	3	0	5	0	4	2	2	4	4	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:26721922C>T	ENST00000380573.3	-	2	1588	c.565G>A	c.(565-567)Gcg>Acg	p.A189T	ADRA1A_ENST00000380586.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000358857.5_Missense_Mutation_p.A189T|ADRA1A_ENST00000380582.3_Missense_Mutation_p.A189T|ADRA1A_ENST00000519229.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000354550.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000380587.1_Missense_Mutation_p.A189T|ADRA1A_ENST00000380581.2_Missense_Mutation_p.A189T|ADRA1A_ENST00000276393.4_Missense_Mutation_p.A189T|ADRA1A_ENST00000380572.3_Missense_Mutation_p.A189T			P35348	ADA1A_HUMAN	adrenoceptor alpha 1A	189					activation of phospholipase C activity|aging|apoptosis|calcium ion transport into cytosol|cell-cell signaling|intracellular protein kinase cascade|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of synaptic transmission, GABAergic|positive regulation of action potential|positive regulation of cardiac muscle contraction|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase C signaling cascade|positive regulation of vasoconstriction|response to drug|response to hormone stimulus|response to stress|smooth muscle contraction	integral to plasma membrane	alpha1-adrenergic receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|skin(1)	36		all_cancers(63;0.122)|Ovarian(32;2.61e-05)|all_epithelial(46;0.118)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0228)|Epithelial(17;4.92e-10)|Colorectal(74;0.0132)|READ - Rectum adenocarcinoma(644;0.115)	Alfuzosin(DB00346)|Amiodarone(DB01118)|Amphetamine(DB00182)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Carvedilol(DB01136)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Epinastine(DB00751)|Epinephrine(DB00668)|Ergotamine(DB00696)|Flupenthixol(DB00875)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Maprotiline(DB00934)|Mephentermine(DB01365)|Metaraminol(DB00610)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Nefazodone(DB01149)|Nicergoline(DB00699)|Nilutamide(DB00665)|Norepinephrine(DB00368)|Norgestrel(DB00506)|Oxymetazoline(DB00935)|Perphenazine(DB00850)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Prazosin(DB00457)|Promazine(DB00420)|Promethazine(DB01069)|Propericiazine(DB01608)|Propiomazine(DB00777)|Pseudoephedrine(DB00852)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioridazine(DB00679)|Tolazoline(DB00797)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Ziprasidone(DB00246)	GAGCCCAGCGCTGAGAAGAGC	0.637													T	26721922	C	T	26721922	3	4	364	1	0	0	0	0	1	0	0	0	334	797	28	2	1134	2	ADRA1A	8	26721922	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98350	26721922	119642100	6682	30184											
TRIM35	23087	broad.mit.edu	37	chr8	27151645	27151645	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctccatctgcagccgctcGatctcatgtgccagcacctc	7	10	7	17	2	3	0	1	0	3	0	7	1	3	0	4	0	4	3	4	0	0	0	rs144594991	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27151645G>A	ENST00000305364.4	-	3	797	c.714C>T	c.(712-714)atC>atT	p.I238I	TRIM35_ENST00000521253.1_Silent_p.I206I	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	238					apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GCAGCCGCTCGATCTCATGTG	0.552													A	27151645	G	A	27151645	2	1	364	1	0	0	0	0	0	0	0	1	16610	1048	37	1		1	TRIM35	8	27151645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429723	27151645	119212377	6683	30185											
PTK2B	2185	broad.mit.edu	37	chr8	27287914	27287914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggacttgtttttcccaaaGcagatgcaggagaacttaaa	13	11	9	8	0	0	2	0	0	0	2	1	4	1	3	1	2	3	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27287914G>A	ENST00000397501.1	+	12	1456	c.648G>A	c.(646-648)aaG>aaA	p.K216K	PTK2B_ENST00000338238.4_Silent_p.K216K|PTK2B_ENST00000346049.5_Silent_p.K216K|PTK2B_ENST00000517339.1_Silent_p.K216K|PTK2B_ENST00000544172.1_Silent_p.K216K|PTK2B_ENST00000420218.2_Silent_p.K216K	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	216	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		TTTTCCCAAAGCAGATGCAGG	0.547													A	27287914	G	A	27287914	2	1	364	1	0	0	0	0	0	0	0	1	12849	962	34	2		2	PTK2B	8	27287914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136269	27287914	119076108	6684	30186											
PTK2B	2185	broad.mit.edu	37	chr8	27288419	27288419	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttccggaagatgatccaGcagaccttccagcagtacgc	11	7	10	13	2	0	3	0	1	0	2	3	4	3	4	4	1	3	4	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27288419G>A	ENST00000397501.1	+	13	1504	c.696G>A	c.(694-696)caG>caA	p.Q232Q	PTK2B_ENST00000338238.4_Silent_p.Q232Q|PTK2B_ENST00000346049.5_Silent_p.Q232Q|PTK2B_ENST00000517339.1_Silent_p.Q232Q|PTK2B_ENST00000544172.1_Silent_p.Q232Q|PTK2B_ENST00000420218.2_Silent_p.Q232Q|PTK2B_ENST00000397497.4_5'UTR	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	232	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGATGATCCAGCAGACCTTCC	0.602													A	27288419	G	A	27288419	2	1	364	1	0	0	0	0	0	0	0	1	12849	962	34	2		2	PTK2B	8	27288419	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505	27288419	119075603	6685	30187											
CLU	1191	broad.mit.edu	37	chr8	27456013	27456013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctgcagcgctttctccGccacggtctccataaattta	8	13	6	14	3	2	0	0	0	2	0	5	0	3	0	4	1	2	2	4	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27456013G>A	ENST00000316403.10	-	8	1709	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	CLU_ENST00000523500.1_Missense_Mutation_p.A435V|CLU_ENST00000405140.3_Missense_Mutation_p.A435V|CLU_ENST00000560366.1_Missense_Mutation_p.A487V|CLU_ENST00000546343.1_Missense_Mutation_p.A446V			P10909	CLUS_HUMAN	clusterin	435					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGCTTTCTCCGCCACGGTCTC	0.557													A	27456013	G	A	27456013	3	1	364	1	0	0	0	0	1	0	0	0	3599	1087	38	1	53	1	CLU	8	27456013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167594	27456013	118908009	6686	30188											
SCARA3	51435	broad.mit.edu	37	chr8	27516827	27516827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcaagtacctggatgaCgtgcggctctcctgcacgct	7	10	11	13	3	2	1	1	1	1	0	3	2	2	2	2	2	4	5	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27516827C>T	ENST00000301904.3	+	5	1160	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	SCARA3_ENST00000337221.4_Silent_p.D380D	NM_016240.2	NP_057324.2	Q6AZY7	SCAR3_HUMAN	scavenger receptor class A, member 3	380					response to oxidative stress|UV protection	collagen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	scavenger receptor activity			breast(1)|large_intestine(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	9		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0219)|Colorectal(74;0.148)		ACCTGGATGACGTGCGGCTCT	0.557													T	27516827	C	T	27516827	2	4	364	1	0	0	0	0	0	0	0	1	13971	535	19	1		1	SCARA3	8	27516827	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60814	27516827	118847195	6687	30189											
ESCO2	157570	broad.mit.edu	37	chr8	27657152	27657152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagatgtaccagaacctgCagtctgtgggataagtagaa	13	10	11	7	0	2	3	1	0	1	3	2	4	2	4	2	1	3	3	2	1	5	4	rs144956719		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27657152C>T	ENST00000305188.8	+	10	1830	c.1592C>T	c.(1591-1593)gCa>gTa	p.A531V	ESCO2_ENST00000397418.2_Missense_Mutation_p.A179V	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	531					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		CCAGAACCTGCAGTCTGTGGG	0.463									SC Phocomelia syndrome				T	27657152	C	T	27657152	3	4	364	1	0	0	0	0	1	0	0	0	5290	710	25	2	1626	2	ESCO2	8	27657152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140325	27657152	118706870	6688	30190											
PBK	55872	broad.mit.edu	37	chr8	27668569	27668569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaaatatgtctgccttGtcagtaataacaccattctc	13	12	6	10	0	3	0	1	0	2	0	4	0	3	0	2	1	2	2	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27668569G>A	ENST00000301905.4	-	7	1141	c.678C>T	c.(676-678)gaC>gaT	p.D226D	PBK_ENST00000522944.1_Silent_p.D237D|ESCO2_ENST00000397418.2_Intron	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	226	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		TGTCTGCCTTGTCAGTAATAA	0.418													A	27668569	G	A	27668569	2	1	364	1	0	0	0	0	0	0	0	1	11564	1368	48	2		2	PBK	8	27668569	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11417	27668569	118695453	6689	30191											
PBK	55872	broad.mit.edu	37	chr8	27680707	27680707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccaaggagaatgagaCaaacctcttggagatctaag	16	6	10	9	0	2	3	0	1	2	3	2	6	2	3	2	2	2	0	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27680707C>T	ENST00000301905.4	-	4	631	c.168G>A	c.(166-168)ttG>ttA	p.L56L	PBK_ENST00000522944.1_Silent_p.L56L	NM_018492.2	NP_060962.2	Q96KB5	TOPK_HUMAN	PDZ binding kinase	56	Protein kinase.				mitosis		ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(1)|large_intestine(2)|lung(1)	4		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|KIRC - Kidney renal clear cell carcinoma(542;0.101)|Kidney(114;0.121)|Colorectal(74;0.141)		GAGAATGAGACAAACCTCTTG	0.289													T	27680707	C	T	27680707	2	4	364	1	0	0	0	0	0	0	0	1	11564	477	17	2		2	PBK	8	27680707	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12138	27680707	118683315	6690	30192											
SCARA5	286133	broad.mit.edu	37	chr8	27737199	27737199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtcacacacggtgccccaaCgccggtcgtggtacacttcc	7	7	10	17	5	1	0	1	0	0	0	3	0	2	0	4	3	3	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:27737199C>T	ENST00000354914.3	-	8	1723	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	SCARA5_ENST00000380385.2_Missense_Mutation_p.R188H	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	413	SRCR.				cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GGTGCCCCAACGCCGGTCGTG	0.667													T	27737199	C	T	27737199	3	4	364	1	0	0	0	0	1	0	0	0	13972	536	19	1	257	1	SCARA5	8	27737199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56492	27737199	118626823	6691	30193											
EXTL3	2137	broad.mit.edu	37	chr8	28573827	28573827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacgtgctggatctgtgccGcatccgggagtcggtgagtg	5	9	17	10	4	1	1	0	1	1	0	3	3	2	3	2	3	2	3	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573827G>A	ENST00000220562.4	+	3	1153	c.251G>A	c.(250-252)cGc>cAc	p.R84H	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	84						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.R84H(1)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		GATCTGTGCCGCATCCGGGAG	0.597													A	28573827	G	A	28573827	3	1	364	1	0	0	0	0	1	0	0	0	5369	1087	38	1	253	1	EXTL3	8	28573827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	836628	28573827	117790195	6692	30194											
EXTL3	2137	broad.mit.edu	37	chr8	28573840	28573840	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccgcatccgggagtcGgtgagtgaagagctcctgca	7	8	15	11	3	0	3	0	2	0	1	3	4	2	4	3	2	3	3	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28573840G>A	ENST00000220562.4	+	3	1166	c.264G>A	c.(262-264)tcG>tcA	p.S88S	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	88						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding	p.S88S(2)		biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		TCCGGGAGTCGGTGAGTGAAG	0.582													A	28573840	G	A	28573840	2	1	364	1	0	0	0	0	0	0	0	1	5369	1103	39	1		1	EXTL3	8	28573840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	28573840	117790182	6693	30195											
EXTL3	2137	broad.mit.edu	37	chr8	28574068	28574068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactgctcccagagaaggaCgatgccggcctccctccccc	7	5	10	19	3	0	1	0	0	0	1	3	5	3	2	6	2	2	1	6	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28574068C>T	ENST00000220562.4	+	3	1394	c.492C>T	c.(490-492)gaC>gaT	p.D164D	EXTL3_ENST00000519886.1_Intron|EXTL3_ENST00000523149.1_Intron	NM_001440.2	NP_001431.1	O43909	EXTL3_HUMAN	exostosin-like glycosyltransferase 3	164						integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding|protein binding			biliary_tract(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(8)|ovary(1)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(1)	36		Ovarian(32;0.069)		KIRC - Kidney renal clear cell carcinoma(542;0.107)|Kidney(114;0.129)|Colorectal(74;0.228)		CAGAGAAGGACGATGCCGGCC	0.602													T	28574068	C	T	28574068	2	4	364	1	0	0	0	0	0	0	0	1	5369	535	19	1		1	EXTL3	8	28574068	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228	28574068	117789954	6694	30196											
HMBOX1	79618	broad.mit.edu	37	chr8	28906606	28906606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaggttcttggtgcctgaGcagggggtatagtgggacag	7	9	19	6	1	1	1	0	1	1	0	1	3	1	2	1	5	2	3	1	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:28906606G>T	ENST00000523613.1	+	9	1498	c.1166G>T	c.(1165-1167)aGc>aTc	p.S389I	HMBOX1_ENST00000524238.1_Intron|HMBOX1_ENST00000355231.5_Intron|HMBOX1_ENST00000519047.1_Intron|HMBOX1_ENST00000397358.3_Intron|HMBOX1_ENST00000558662.1_Intron|HMBOX1_ENST00000517386.1_Intron|HMBOX1_ENST00000444075.1_Intron|HMBOX1_ENST00000287701.10_Intron			Q6NT76	HMBX1_HUMAN	homeobox containing 1	0					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		TGGTGCCTGAGCAGGGGGTAT	0.582													T	28906606	G	T	28906606	3	4	364	1	0	0	0	0	1	0	0	0	7273	986	34	4		4	HMBOX1	8	28906606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332538	28906606	117457416	6695	30197											
KIF13B	23303	broad.mit.edu	37	chr8	29006204	29006204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctacatccagctgctcaGaactattctcgttcttcatg	8	14	6	13	2	5	1	2	0	3	1	7	1	6	1	1	0	4	3	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29006204G>T	ENST00000524189.1	-	16	1741	c.1703C>A	c.(1702-1704)tCt>tAt	p.S568Y	KIF13B_ENST00000521515.1_Missense_Mutation_p.S568Y	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	568					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CAGCTGCTCAGAACTATTCTC	0.463													T	29006204	G	T	29006204	3	4	364	1	0	0	0	0	1	0	0	0	8333	942	33	4	3877	4	KIF13B	8	29006204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99598	29006204	117357818	6696	30198											
KIF13B	23303	broad.mit.edu	37	chr8	29048567	29048567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accagaaacaatgatcataaGcaaacacctgttgaaaatga	20	7	6	8	0	1	4	1	3	0	1	1	4	1	4	2	0	3	2	2	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29048567G>A	ENST00000524189.1	-	4	208	c.170C>T	c.(169-171)gCt>gTt	p.A57V	KIF13B_ENST00000521515.1_Missense_Mutation_p.A57V	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	57	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGATCATAAGCAAACACCTG	0.343													A	29048567	G	A	29048567	3	1	364	1	0	0	0	0	1	0	0	0	8333	971	34	2	5458	2	KIF13B	8	29048567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42363	29048567	117315455	6697	30199											
DUSP4	1846	broad.mit.edu	37	chr8	29194883	29194883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgaccgcgagatgcccGcctggcagtgcaccagcacg	7	4	14	16	5	0	1	0	0	0	1	0	3	0	1	5	2	3	3	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:29194883G>A	ENST00000240100.2	-	4	1234	c.845C>T	c.(844-846)gCg>gTg	p.A282V	DUSP4_ENST00000240101.2_Missense_Mutation_p.A191V	NM_001394.6	NP_001385.1	Q13115	DUS4_HUMAN	dual specificity phosphatase 4	282	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity|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|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	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/threonine phosphatase activity			endometrium(1)|large_intestine(1)|lung(4)	6				KIRC - Kidney renal clear cell carcinoma(542;0.094)|Kidney(114;0.113)		CGAGATGCCCGCCTGGCAGTG	0.637													A	29194883	G	A	29194883	3	1	364	1	0	0	0	0	1	0	0	0	4866	1087	38	1	343	1	DUSP4	8	29194883	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146316	29194883	117169139	6698	30200											
PPP2CB	5516	broad.mit.edu	37	chr8	30655186	30655186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcccatactttcgcagacAttcatcataaaagccatata	15	12	3	11	1	2	1	2	0	0	1	4	1	3	1	2	0	2	1	2	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30655186A>G	ENST00000221138.4	-	3	847	c.397T>C	c.(397-399)Tgt>Cgt	p.C133R	PPP2CB_ENST00000518564.1_Intron	NM_001009552.1	NP_001009552.1	P62714	PP2AB_HUMAN	protein phosphatase 2, catalytic subunit, beta isozyme	133					protein dephosphorylation	chromosome, centromeric region|cytoplasm|nucleus|protein phosphatase type 2A complex|spindle pole	metal ion binding			breast(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	9				KIRC - Kidney renal clear cell carcinoma(542;0.095)|Kidney(114;0.114)	Vitamin E(DB00163)	TTTCGCAGACATTCATCATAA	0.378													G	30655186	A	G	30655186	3	3	364	1	0	0	0	0	1	0	0	0	12463	217	8	3	552	3	PPP2CB	8	30655186	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1460303	30655186	115708836	6699	30201											
TEX15	56154	broad.mit.edu	37	chr8	30700227	30700227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattttttcttggcactgaaCcagctcaggaagaagtgaca	12	11	9	9	0	2	3	1	2	1	1	2	4	2	4	1	2	2	2	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30700227C>T	ENST00000256246.2	-	1	6381	c.6307G>A	c.(6307-6309)Gtt>Att	p.V2103I		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	2103										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGGCACTGAACCAGCTCAGGA	0.358													T	30700227	C	T	30700227	3	4	364	1	0	0	0	0	1	0	0	0	15879	507	18	2	2078	2	TEX15	8	30700227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45041	30700227	115663795	6700	30202											
TEX15	56154	broad.mit.edu	37	chr8	30701743	30701743	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctttaaaatcactcacGtatgacgcaggtttcttcag	10	16	6	9	2	5	1	3	1	2	0	5	1	5	1	0	1	0	3	0	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30701743G>A	ENST00000256246.2	-	1	4865	c.4791C>T	c.(4789-4791)taC>taT	p.Y1597Y		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1597										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AATCACTCACGTATGACGCAG	0.403													A	30701743	G	A	30701743	2	1	364	1	0	0	0	0	0	0	0	1	15879	1140	40	1		1	TEX15	8	30701743	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1516	30701743	115662279	6701	30203											
WRN	7486	broad.mit.edu	37	chr8	30922521	30922521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagtggaaacttctacGtgactttgatatcaaattga	14	13	8	6	1	3	4	2	3	1	1	3	5	3	5	0	1	2	0	0	1	4	5	rs61761625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30922521G>A	ENST00000298139.5	+	5	695	c.446G>A	c.(445-447)cGt>cAt	p.R149H		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	149	3'-5' exonuclease.|Interaction with WRNIP1 (By similarity).				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AAACTTCTACGTGACTTTGAT	0.308			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A	30922521	G	A	30922521	3	1	364	1	0	0	0	0	1	0	0	0	17504	1145	40	1	460	1	WRN	8	30922521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220778	30922521	115441501	6702	30204											
WRN	7486	broad.mit.edu	37	chr8	30938402	30938402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtttctatcttactaaagGatatttcagaaaatctatat	14	16	6	5	0	4	1	1	0	3	1	4	2	4	2	0	2	1	1	0	2	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30938402G>T	ENST00000298139.5	+	9	1108	c.859G>T	c.(859-861)Gat>Tat	p.D287Y		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	287					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTACTAAAGGATATTTCAGA	0.299			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				T	30938402	G	T	30938402	3	4	364	1	0	0	0	0	1	0	0	0	17504	1174	41	4	889	4	WRN	8	30938402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15881	30938402	115425620	6703	30205											
WRN	7486	broad.mit.edu	37	chr8	30945300	30945300	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaaactttcagtctttagaAaacctcaatagtggcacggt	13	13	7	8	1	3	1	2	0	1	1	3	1	3	1	1	2	2	1	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30945300A>T	ENST00000298139.5	+	12	1689	c.1440A>T	c.(1438-1440)gaA>gaT	p.E480D		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	480					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		AGTCTTTAGAAAACCTCAATA	0.343			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				T	30945300	A	T	30945300	3	4	364	1	0	0	0	0	1	0	0	0	17504	11	1	5	1482	5	WRN	8	30945300	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6898	30945300	115418722	6704	30206											
WRN	7486	broad.mit.edu	37	chr8	30973987	30973987	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaacataccatgcgggCatgagttttagcacaaggaa	13	9	12	7	1	0	1	0	1	0	0	0	3	0	3	1	3	4	3	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:30973987C>T	ENST00000298139.5	+	20	2640	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	797	Helicase C-terminal.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		ACCATGCGGGCATGAGTTTTA	0.398			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				T	30973987	C	T	30973987	2	4	364	1	0	0	0	0	0	0	0	1	17504	697	25	2		2	WRN	8	30973987	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28687	30973987	115390035	6705	30207											
NRG1	3084	broad.mit.edu	37	chr8	32453412	32453412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggttccaaactagtccttcGgtgtgaaaccagttctgaat	11	12	9	9	1	1	2	0	2	1	0	4	2	3	2	3	2	2	2	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32453412G>A	ENST00000341377.5	+	2	684	c.167G>A	c.(166-168)cGg>cAg	p.R56Q	NRG1_ENST00000287842.3_Missense_Mutation_p.R56Q|NRG1_ENST00000287845.5_Missense_Mutation_p.R56Q|NRG1_ENST00000356819.4_Missense_Mutation_p.R56Q|NRG1_ENST00000405005.3_Missense_Mutation_p.R56Q|NRG1_ENST00000338921.4_Missense_Mutation_p.R56Q|NRG1_ENST00000521670.1_Missense_Mutation_p.R56Q|NRG1_ENST00000523079.1_Missense_Mutation_p.R56Q|NRG1_ENST00000519301.1_Missense_Mutation_p.R35Q|NRG1_ENST00000520407.1_Missense_Mutation_p.R271Q	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	56	Ig-like C2-type.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CTAGTCCTTCGGTGTGAAACC	0.398													A	32453412	G	A	32453412	3	1	364	1	0	0	0	0	1	0	0	0	10723	1116	39	1	924	1	NRG1	8	32453412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1479425	32453412	113910610	6706	30208											
NRG1	3084	broad.mit.edu	37	chr8	32474382	32474382	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaatatcagtatccacaGaaggagcaaatacttcttca	16	11	6	8	0	3	2	2	0	1	2	4	3	4	3	1	1	2	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32474382G>T	ENST00000341377.5	+	5	998	c.481G>T	c.(481-483)Gaa>Taa	p.E161*	NRG1_ENST00000287842.3_Nonsense_Mutation_p.E161*|NRG1_ENST00000287845.5_Intron|NRG1_ENST00000356819.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000405005.3_Nonsense_Mutation_p.E161*|NRG1_ENST00000338921.4_Nonsense_Mutation_p.E161*|NRG1_ENST00000521670.1_Nonsense_Mutation_p.E161*|NRG1_ENST00000523079.1_Nonsense_Mutation_p.E161*|NRG1_ENST00000519301.1_Intron|NRG1_ENST00000520407.1_Intron	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	161					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		AGTATCCACAGAAGGAGCAAA	0.353													T	32474382	G	T	32474382	4	4	364	1	0	0	0	0	0	1	0	0	10723	943	33	4	1250	4	NRG1	8	32474382	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20970	32474382	113889640	6707	30209											
NRG1	3084	broad.mit.edu	37	chr8	32585588	32585588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaaacccctcgagataCttgtgcaagtaagaaaagaa	16	9	7	9	1	1	3	1	0	0	3	2	4	1	3	2	0	3	2	2	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:32585588C>T	ENST00000341377.5	+	6	1141	c.624C>T	c.(622-624)taC>taT	p.Y208Y	NRG1_ENST00000287842.3_Silent_p.Y208Y|NRG1_ENST00000287845.5_Silent_p.Y174Y|NRG1_ENST00000356819.4_Silent_p.Y208Y|NRG1_ENST00000405005.3_Silent_p.Y208Y|NRG1_ENST00000338921.4_Silent_p.Y208Y|NRG1_ENST00000521670.1_Silent_p.Y208Y|NRG1_ENST00000539990.1_Silent_p.Y54Y|NRG1_ENST00000523079.1_Silent_p.Y208Y|NRG1_ENST00000519301.1_Silent_p.Y153Y|NRG1_ENST00000520502.2_Silent_p.Y263Y|NRG1_ENST00000520407.1_Silent_p.Y389Y	NM_013964.3	NP_039258.1	Q02297	NRG1_HUMAN	neuregulin 1	208	EGF-like.				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CCTCGAGATACTTGTGCAAGT	0.403													T	32585588	C	T	32585588	2	4	364	1	0	0	0	0	0	0	0	1	10723	576	20	2		2	NRG1	8	32585588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111206	32585588	113778434	6708	30210											
RNF122	79845	broad.mit.edu	37	chr8	33406360	33406360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacatggggcagacacagcGaacttccagccatttcacca	13	6	8	14	1	1	1	1	0	0	1	2	2	2	1	3	2	3	1	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:33406360G>A	ENST00000256257.1	-	6	780	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C		NM_024787.2	NP_079063.2	Q9H9V4	RN122_HUMAN	ring finger protein 122	127						endoplasmic reticulum|Golgi apparatus|integral to membrane	zinc ion binding	p.R127C(1)		endometrium(2)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)	7				KIRC - Kidney renal clear cell carcinoma(67;0.0966)|Kidney(114;0.116)		CAGACACAGCGAACTTCCAGC	0.498													A	33406360	G	A	33406360	3	1	364	1	0	0	0	0	1	0	0	0	13523	1058	37	1	92	1	RNF122	8	33406360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	820772	33406360	112957662	6709	30211											
UNC5D	137970	broad.mit.edu	37	chr8	35541169	35541169	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggcacggctctcggaCtcaggaaattacacctgcat	11	7	11	12	2	2	0	1	0	1	0	3	2	2	2	1	5	2	4	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35541169C>T	ENST00000287272.2	+	5	695	c.675C>T	c.(673-675)gaC>gaT	p.D225D	UNC5D_ENST00000404895.2_Silent_p.D225D|UNC5D_ENST00000420357.1_Silent_p.D225D|UNC5D_ENST00000453357.2_Silent_p.D220D|UNC5D_ENST00000416672.1_Silent_p.D225D			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	225	Ig-like C2-type.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		GGCTCTCGGACTCAGGAAATT	0.517													T	35541169	C	T	35541169	2	4	364	1	0	0	0	0	0	0	0	1	17097	564	20	2		2	UNC5D	8	35541169	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2134809	35541169	110822853	6710	30212											
UNC5D	137970	broad.mit.edu	37	chr8	35579906	35579906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accttcaacttcaaaacagtCcgtcaaggtcagcggcatag	13	8	8	12	2	4	0	4	0	0	0	5	0	5	0	2	2	3	1	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35579906C>T	ENST00000453357.2	+	9	1337	c.1281C>T	c.(1279-1281)gtC>gtT	p.V427V	UNC5D_ENST00000287272.2_Intron|UNC5D_ENST00000404895.2_Silent_p.V432V|UNC5D_ENST00000420357.1_Silent_p.V365V|UNC5D_ENST00000416672.1_Silent_p.V437V			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	432					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TCAAAACAGTCCGTCAAGGTC	0.552													T	35579906	C	T	35579906	2	4	364	1	0	0	0	0	0	0	0	1	17097	842	30	2		2	UNC5D	8	35579906	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38737	35579906	110784116	6711	30213											
UNC5D	137970	broad.mit.edu	37	chr8	35616915	35616915	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatttcaaagggaatacCtttagtcttcagatttctgt	10	16	7	8	0	4	1	2	0	2	1	4	2	4	2	1	1	2	1	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:35616915C>A	ENST00000287272.2	+	13	2054	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	UNC5D_ENST00000449677.1_Silent_p.T323T|UNC5D_ENST00000404895.2_Silent_p.T747T|UNC5D_ENST00000420357.1_Silent_p.T680T|UNC5D_ENST00000453357.2_Silent_p.T742T|UNC5D_ENST00000416672.1_Silent_p.T752T			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	747					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		AAGGGAATACCTTTAGTCTTC	0.418													A	35616915	C	A	35616915	2	1	364	1	0	0	0	0	0	0	0	1	17097	668	24	4		4	UNC5D	8	35616915	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37009	35616915	110747107	6712	30214											
KCNU1	157855	broad.mit.edu	37	chr8	36793350	36793350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattatatcatctcagatacCtttaggtgacaatgcaaaag	15	13	6	7	0	2	2	2	1	1	1	3	2	2	2	1	1	2	1	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:36793350C>A	ENST00000399881.3	+	27	3399	c.3362C>A	c.(3361-3363)cCt>cAt	p.P1121H		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1121						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTCAGATACCTTTAGGTGAC	0.388													A	36793350	C	A	36793350	3	1	364	1	0	0	0	0	1	0	0	0	8151	681	24	4	3468	4	KCNU1	8	36793350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1176435	36793350	109570672	6713	30215											
ZNF703	80139	broad.mit.edu	37	chr8	37555577	37555577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcttgggaggttaccaCggcgcctcgcacctcggcgg	5	9	14	13	5	0	0	0	0	0	0	2	1	0	1	3	5	2	3	3	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37555577C>T	ENST00000331569.4	+	2	1387	c.1158C>T	c.(1156-1158)caC>caT	p.H386H		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	386	Gly-rich.				adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GAGGTTACCACGGCGCCTCGC	0.736													T	37555577	C	T	37555577	2	4	364	1	0	0	0	0	0	0	0	1	18207	535	19	1		1	ZNF703	8	37555577	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	762227	37555577	108808445	6714	30216											
ZNF703	80139	broad.mit.edu	37	chr8	37556060	37556060	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctaagccggtaccacccCtatggcaagagccacttatc	10	7	9	15	1	0	1	0	0	0	1	1	1	0	1	6	3	3	2	6	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37556060C>A	ENST00000331569.4	+	2	1870	c.1641C>A	c.(1639-1641)ccC>ccA	p.P547P		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	547					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			GGTACCACCCCTATGGCAAGA	0.677													A	37556060	C	A	37556060	2	1	364	1	0	0	0	0	0	0	0	1	18207	668	24	4		4	ZNF703	8	37556060	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	483	37556060	108807962	6715	30217											
BRF2	55290	broad.mit.edu	37	chr8	37704663	37704663	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgttggtggcaactgcagaActcgacaaaggtctctcact	11	10	10	10	1	2	1	1	0	1	1	4	2	2	1	0	3	3	3	0	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37704663A>G	ENST00000220659.6	-	3	365	c.245T>C	c.(244-246)gTt>gCt	p.V82A	BRF2_ENST00000520601.1_Missense_Mutation_p.V82A|BRF2_ENST00000521170.1_3'UTR	NM_018310.3	NP_060780.2	Q9HAW0	BRF2_HUMAN	BRF2, RNA polymerase III transcription initiation factor 50 kDa subunit	82					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter|transcription initiation, DNA-dependent	nucleoplasm	protein binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	12		Lung NSC(58;0.118)|all_lung(54;0.195)	BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;1.81e-10)			CAACTGCAGAACTCGACAAAG	0.532													G	37704663	A	G	37704663	3	3	364	1	0	0	0	0	1	0	0	0	1520	43	2	3	1022	3	BRF2	8	37704663	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	148603	37704663	108659359	6716	30218											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37728878	37728878	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacccaggcctggaggaGtggcttcctcttgccaaaat	9	9	12	11	0	1	1	0	1	1	1	2	4	2	3	4	4	1	1	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37728878G>C	ENST00000330843.4	-	4	3454	c.3442C>G	c.(3442-3444)Ctc>Gtc	p.L1148V	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	1148					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCCTGGAGGAGTGGCTTCCTC	0.552											OREG0018713	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	37728878	G	C	37728878	3	2	364	1	0	0	0	0	1	0	0	0	12981	1029	36	4	421	4	RAB11FIP1	8	37728878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24215	37728878	108635144	6717	30219											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732659	37732659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatccttgatctcaccCttggcttctggctgctccag	4	14	8	15	0	2	1	1	1	2	0	5	1	4	1	3	2	2	4	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37732659C>A	ENST00000330843.4	-	3	1008	c.996G>T	c.(994-996)aaG>aaT	p.K332N	RAB11FIP1_ENST00000522727.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000524118.1_Missense_Mutation_p.K184N|RAB11FIP1_ENST00000287263.4_Missense_Mutation_p.K332N	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	332				EAK -> QPT (in Ref. 1; AAM09571).	protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGATCTCACCCTTGGCTTCTG	0.517													A	37732659	C	A	37732659	3	1	364	1	0	0	0	0	1	0	0	0	12981	680	24	4	2871	4	RAB11FIP1	8	37732659	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3781	37732659	108631363	6718	30220											
GOT1L1	137362	broad.mit.edu	37	chr8	37793302	37793302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggtttagccacagggcCtgggctaatccttccagctg	6	9	15	11	0	0	0	0	0	0	0	2	0	2	0	4	5	2	3	4	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37793302C>A	ENST00000307599.4	-	7	948	c.849G>T	c.(847-849)caG>caT	p.Q283H	GOT1L1_ENST00000518826.1_Missense_Mutation_p.Q24H	NM_152413.2	NP_689626.2	Q8NHS2	AATC2_HUMAN	glutamic-oxaloacetic transaminase 1-like 1	283					biosynthetic process|cellular amino acid metabolic process	cytoplasm	pyridoxal phosphate binding|transaminase activity			central_nervous_system(1)|endometrium(3)|lung(8)|ovary(1)|prostate(1)	14	Colorectal(12;0.00627)	Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;1.37e-11)			GCCACAGGGCCTGGGCTAATC	0.592													A	37793302	C	A	37793302	3	1	364	1	0	0	0	0	1	0	0	0	6633	680	24	4	428	4	GOT1L1	8	37793302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60643	37793302	108570720	6719	30221											
ASH2L	9070	broad.mit.edu	37	chr8	37967910	37967910	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggcagatcctgtctacctTtcatgaccaactacagtttt	9	14	6	12	1	2	2	1	1	1	1	4	2	3	2	3	1	3	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37967910T>C	ENST00000343823.6	+	4	724	c.415T>C	c.(415-417)Ttc>Ctc	p.F139L	ASH2L_ENST00000521652.1_Missense_Mutation_p.F45L|ASH2L_ENST00000428278.2_Missense_Mutation_p.F45L|ASH2L_ENST00000250635.7_Missense_Mutation_p.F45L|ASH2L_ENST00000545394.1_5'UTR	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	139					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding	p.F139L(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CTGTCTACCTTTCATGACCAA	0.408													C	37967910	T	C	37967910	3	2	364	1	0	0	0	0	1	0	0	0	1047	1841	64	3	429	3	ASH2L	8	37967910	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	174608	37967910	108396112	6720	30222											
ASH2L	9070	broad.mit.edu	37	chr8	37985945	37985945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagatgccaccagatacCgctgccagactgggttggtc	9	8	13	11	1	0	3	0	1	0	3	1	5	0	3	4	2	3	2	4	2	1	2	rs145960167	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:37985945C>T	ENST00000343823.6	+	11	1611	c.1302C>T	c.(1300-1302)acC>acT	p.T434T	ASH2L_ENST00000521652.1_Silent_p.T340T|ASH2L_ENST00000428278.2_Silent_p.T340T|ASH2L_ENST00000250635.7_Silent_p.T340T|ASH2L_ENST00000545394.1_Silent_p.T295T	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	434	B30.2/SPRY.				hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				CACCAGATACCGCTGCCAGAC	0.532													T	37985945	C	T	37985945	2	4	364	1	0	0	0	0	0	0	0	1	1047	639	23	1		1	ASH2L	8	37985945	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18035	37985945	108378077	6721	30223											
BAG4	9530	broad.mit.edu	37	chr8	38065263	38065263	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcttagggggcaggtTccaggatatccgccttcaca	7	9	10	15	1	2	0	1	0	1	0	4	1	4	1	5	4	0	2	5	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38065263T>A	ENST00000287322.4	+	3	883	c.612T>A	c.(610-612)gtT>gtA	p.V204V	BAG4_ENST00000432471.2_Silent_p.V168V	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	204					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				GGGGGCAGGTTCCAGGATATC	0.483													A	38065263	T	A	38065263	2	1	364	1	0	0	0	0	0	0	0	1	1294	1770	62	5		5	BAG4	8	38065263	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79318	38065263	108298759	6722	30224											
DDHD2	23259	broad.mit.edu	37	chr8	38090666	38090666	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttattgtaagataatagatTctaaggagacatggattcct	14	15	8	4	0	1	3	0	0	1	3	2	5	2	4	1	2	0	1	1	2	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38090666T>G	ENST00000397166.2	+	2	679	c.154T>G	c.(154-156)Tct>Gct	p.S52A	DDHD2_ENST00000520272.2_Missense_Mutation_p.S52A	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	52	WWE.				lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GATAATAGATTCTAAGGAGAC	0.403													G	38090666	T	G	38090666	3	3	364	1	0	0	0	0	1	0	0	0	4361	1783	62	5	156	5	DDHD2	8	38090666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25403	38090666	108273356	6723	30225											
DDHD2	23259	broad.mit.edu	37	chr8	38092032	38092032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggaagtgagacgatgtaCgtggttttacaagggggaca	12	9	15	5	3	0	1	0	1	0	1	1	5	0	3	0	4	2	2	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38092032C>T	ENST00000397166.2	+	3	866	c.341C>T	c.(340-342)aCg>aTg	p.T114M	DDHD2_ENST00000520272.2_Missense_Mutation_p.T114M	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	114					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AGACGATGTACGTGGTTTTAC	0.438													T	38092032	C	T	38092032	3	4	364	1	0	0	0	0	1	0	0	0	4361	536	19	1	347	1	DDHD2	8	38092032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366	38092032	108271990	6724	30226											
DDHD2	23259	broad.mit.edu	37	chr8	38099780	38099780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttccagttaatgattttcGcagtgtttccttgaacttgc	7	19	7	8	1	0	2	0	2	0	0	3	2	2	2	2	0	2	3	2	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099780G>A	ENST00000397166.2	+	7	1250	c.725G>A	c.(724-726)cGc>cAc	p.R242H	DDHD2_ENST00000520272.2_Missense_Mutation_p.R242H|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	242					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			AATGATTTTCGCAGTGTTTCC	0.358													A	38099780	G	A	38099780	3	1	364	1	0	0	0	0	1	0	0	0	4361	1087	38	1	809	1	DDHD2	8	38099780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7748	38099780	108264242	6725	30227											
DDHD2	23259	broad.mit.edu	37	chr8	38099827	38099827	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattttaagaaagcccaaGaaaatcagcagattgggagg	17	7	10	7	0	1	3	1	0	0	3	1	4	1	4	1	2	2	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38099827G>T	ENST00000397166.2	+	7	1297	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	DDHD2_ENST00000520272.2_Nonsense_Mutation_p.E258*|DDHD2_ENST00000528888.1_3'UTR	NM_015214.2	NP_056029.2	O94830	DDHD2_HUMAN	DDHD domain containing 2	258					lipid catabolic process	centrosome	hydrolase activity|metal ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)|urinary_tract(2)	28	Colorectal(12;0.000442)	all_lung(54;0.0657)|Lung NSC(58;0.175)	BRCA - Breast invasive adenocarcinoma(5;3.76e-25)|COAD - Colon adenocarcinoma(9;0.0977)			GAAAGCCCAAGAAAATCAGCA	0.378													T	38099827	G	T	38099827	4	4	364	1	0	0	0	0	0	1	0	0	4361	943	33	4	856	4	DDHD2	8	38099827	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47	38099827	108264195	6726	30228											
PPAPDC1B	84513	broad.mit.edu	37	chr8	38124795	38124795	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcatacaggaagaatgTccactggggaagctctttcg	12	11	10	8	1	2	1	1	0	1	1	4	3	3	3	1	3	2	1	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38124795T>C	ENST00000529359.1	-	4	528	c.330A>G	c.(328-330)ggA>ggG	p.G110G	PPAPDC1B_ENST00000424479.2_Silent_p.G151G|PPAPDC1B_ENST00000531823.1_Silent_p.G19G|PPAPDC1B_ENST00000422581.2_Silent_p.G151G|PPAPDC1B_ENST00000419686.2_Silent_p.G151G			Q8NEB5	PPC1B_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1B	151	Phosphatase sequence motif I.				phospholipid dephosphorylation	cytoplasm|integral to membrane|plasma membrane	phosphatidate phosphatase activity			kidney(1)|lung(1)	2	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)	BRCA - Breast invasive adenocarcinoma(5;3.04e-26)|COAD - Colon adenocarcinoma(9;0.188)			AGGAAGAATGTCCACTGGGGA	0.453													C	38124795	T	C	38124795	2	2	364	1	0	0	0	0	0	0	0	1	12371	1654	58	3		3	PPAPDC1B	8	38124795	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24968	38124795	108239227	6727	30229											
WHSC1L1	54904	broad.mit.edu	37	chr8	38162272	38162272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcttaaacatctcatcatgCggcctgtttaaagacaagtc	13	12	6	10	1	3	1	2	0	2	1	5	1	3	1	1	1	2	1	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38162272C>T	ENST00000317025.8	-	14	2961	c.2444G>A	c.(2443-2445)cGc>cAc	p.R815H	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R815H|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R815H	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	815					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			TCTCATCATGCGGCCTGTTTA	0.438			T	NUP98	AML								T	38162272	C	T	38162272	3	4	364	1	0	0	0	0	1	0	0	0	17465	768	27	1	1913	1	WHSC1L1	8	38162272	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37477	38162272	108201750	6728	30230											
WHSC1L1	54904	broad.mit.edu	37	chr8	38173513	38173513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctacatcagttgaggcgcGactccttttctttagaggtt	7	16	9	9	2	3	2	1	1	2	1	4	3	4	2	1	2	1	2	1	2	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38173513G>A	ENST00000317025.8	-	10	2420	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R635C|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R635C	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	635					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GTTGAGGCGCGACTCCTTTTC	0.403			T	NUP98	AML								A	38173513	G	A	38173513	3	1	364	1	0	0	0	0	1	0	0	0	17465	1058	37	1	2470	1	WHSC1L1	8	38173513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11241	38173513	108190509	6729	30231											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187117	38187117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccgcacttgtgtgccGcctctggctatgtctccgaa	4	13	9	15	3	3	0	0	0	3	0	5	1	4	0	4	1	1	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38187117G>A	ENST00000317025.8	-	6	1877	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	WHSC1L1_ENST00000316985.3_Missense_Mutation_p.R454W|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.R454W|WHSC1L1_ENST00000527502.1_Missense_Mutation_p.R454W	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	454					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			CTTGTGTGCCGCCTCTGGCTA	0.517			T	NUP98	AML								A	38187117	G	A	38187117	3	1	364	1	0	0	0	0	1	0	0	0	17465	1086	38	1	3116	1	WHSC1L1	8	38187117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13604	38187117	108176905	6730	30232											
FGFR1	2260	broad.mit.edu	37	chr8	38285863	38285863	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agataggaaacagtgtctcaCgcatacggtttggtttggtg	10	12	13	6	2	1	1	1	0	1	1	2	2	1	2	0	4	2	3	0	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38285863C>T	ENST00000447712.2	-	4	1390		c.e4+1		FGFR1_ENST00000326324.6_Intron|FGFR1_ENST00000397103.1_Intron|FGFR1_ENST00000532791.1_Splice_Site|FGFR1_ENST00000397091.5_Intron|FGFR1_ENST00000356207.5_Splice_Site|FGFR1_ENST00000397113.2_Intron|FGFR1_ENST00000425967.3_Intron|FGFR1_ENST00000341462.5_Intron|FGFR1_ENST00000397108.4_Intron|FGFR1_ENST00000335922.5_Splice_Site	NM_001174063.1|NM_015850.3|NM_023110.2	NP_001167534.1|NP_056934.2|NP_075598.2	P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1						axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity		FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CAGTGTCTCACGCATACGGTT	0.512		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						T	38285863	C	T	38285863	5	4	364	1	0	0	0	0	0	0	1	0	5912	550	19	1	2319	1	FGFR1	8	38285863	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98746	38285863	108078159	6731	30233											
C8orf86	389649	broad.mit.edu	37	chr8	38386085	38386085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaggcagtctctaaggCtcctgccaactccaagattg	9	9	10	13	0	2	1	1	0	1	1	5	1	4	1	3	3	2	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38386085C>T	ENST00000358138.1	-	1	95	c.71G>A	c.(70-72)aGc>aAc	p.S24N	C8orf86_ENST00000437935.2_Missense_Mutation_p.S24N	NM_207412.1	NP_997295.1	Q6ZUL3	CH086_HUMAN	chromosome 8 open reading frame 86	24										breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						GTCTCTAAGGCTCCTGCCAAC	0.552													T	38386085	C	T	38386085	3	4	364	1	0	0	0	0	1	0	0	0	2468	797	28	2	612	2	C8orf86	8	38386085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100222	38386085	107977937	6732	30234											
PLEKHA2	59339	broad.mit.edu	37	chr8	38809772	38809772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccccacgtcaggctgccGtgcttccactgggcctcccc	4	8	9	20	2	1	0	1	0	0	0	4	0	4	0	7	2	2	2	7	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38809772G>A	ENST00000420274.1	+	7	809	c.575G>A	c.(574-576)cGt>cAt	p.R192H	PLEKHA2_ENST00000521746.1_Missense_Mutation_p.R192H|PLEKHA2_ENST00000388745.4_3'UTR	NM_021623.1	NP_067636.1	Q9HB19	PKHA2_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 2	192					positive regulation of cell-matrix adhesion	cytoplasm|nucleus|plasma membrane|protein complex	fibronectin binding|laminin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	13		all_lung(54;0.0413)|Lung NSC(58;0.115)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;4.68e-08)|COAD - Colon adenocarcinoma(9;0.235)			TCAGGCTGCCGTGCTTCCACT	0.582													A	38809772	G	A	38809772	3	1	364	1	0	0	0	0	1	0	0	0	12133	1145	40	1	597	1	PLEKHA2	8	38809772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	423687	38809772	107554250	6733	30235											
HTRA4	203100	broad.mit.edu	37	chr8	38832617	38832617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggtggagaaggtggcGccatcggtggttcacgtgca	6	8	19	8	4	1	1	1	0	0	1	2	2	1	1	1	7	1	2	1	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38832617G>A	ENST00000302495.4	+	2	634	c.534G>A	c.(532-534)gcG>gcA	p.A178A		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	178					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			AGAAGGTGGCGCCATCGGTGG	0.577													A	38832617	G	A	38832617	2	1	364	1	0	0	0	0	0	0	0	1	7514	1074	38	1		1	HTRA4	8	38832617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22845	38832617	107531405	6734	30236											
HTRA4	203100	broad.mit.edu	37	chr8	38840057	38840057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatatctgggtctgcaaatGctgtccctcactgtgccgta	9	12	9	11	1	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38840057G>A	ENST00000302495.4	+	7	1255	c.1155G>A	c.(1153-1155)atG>atA	p.M385I		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	385	PDZ.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			GTCTGCAAATGCTGTCCCTCA	0.413													A	38840057	G	A	38840057	3	1	364	1	0	0	0	0	1	0	0	0	7514	1319	46	2	1181	2	HTRA4	8	38840057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7440	38840057	107523965	6735	30237											
ADAM9	8754	broad.mit.edu	37	chr8	38884200	38884200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcctgttctgaacagtttgGacaaatcactgtggagacat	11	13	9	8	0	2	2	1	1	1	1	3	4	3	3	1	2	1	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38884200G>T	ENST00000487273.2	+	11	1079	c.1001G>T	c.(1000-1002)gGa>gTa	p.G334V		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	334	Peptidase M12B.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GAACAGTTTGGACAAATCACT	0.373													T	38884200	G	T	38884200	3	4	364	1	0	0	0	0	1	0	0	0	253	1174	41	4	1043	4	ADAM9	8	38884200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44143	38884200	107479822	6736	30238											
ADAM9	8754	broad.mit.edu	37	chr8	38940565	38940565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agactaaaggatacggaggaAgtgtggacagtggacctaca	15	6	14	6	1	0	1	0	0	0	1	0	6	0	6	1	5	2	0	1	5	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:38940565A>G	ENST00000487273.2	+	18	2119	c.2041A>G	c.(2041-2043)Agt>Ggt	p.S681G		NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	681	EGF-like.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			ATACGGAGGAAGTGTGGACAG	0.418													G	38940565	A	G	38940565	3	3	364	1	0	0	0	0	1	0	0	0	253	72	3	3	2111	3	ADAM9	8	38940565	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56365	38940565	107423457	6737	30239											
ADAM18	8749	broad.mit.edu	37	chr8	39505913	39505913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatgcacgactataGatattttgtttcaaaatttg	12	15	7	7	1	1	1	1	0	0	1	1	2	1	1	0	0	3	4	0	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39505913G>T	ENST00000265707.5	+	12	1142	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ADAM18_ENST00000541111.1_Intron|ADAM18_ENST00000379866.1_Missense_Mutation_p.R342I	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	366	Peptidase M12B.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CACGACTATAGATATTTTGTT	0.348													T	39505913	G	T	39505913	3	4	364	1	0	0	0	0	1	0	0	0	239	942	33	4	1143	4	ADAM18	8	39505913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	565348	39505913	106858109	6738	30240											
ADAM18	8749	broad.mit.edu	37	chr8	39550173	39550173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgggatataactgtaatGccaccacaaaatgcaaaggg	17	8	9	7	0	0	0	0	0	0	0	0	1	0	1	2	2	3	2	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550173G>A	ENST00000265707.5	+	17	1921	c.1876G>A	c.(1876-1878)Gcc>Acc	p.A626T	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.A40T|ADAM18_ENST00000379866.1_Missense_Mutation_p.A602T	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	626	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			TAACTGTAATGCCACCACAAA	0.303													A	39550173	G	A	39550173	3	1	364	1	0	0	0	0	1	0	0	0	239	1319	46	2	1942	2	ADAM18	8	39550173	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44260	39550173	106813849	6739	30241											
ADAM18	8749	broad.mit.edu	37	chr8	39550197	39550197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaaaatgcaaagggaaaGgggtaagtcacttttgtatc	15	9	10	7	0	1	0	1	0	0	0	2	1	1	1	1	3	1	3	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:39550197G>T	ENST00000265707.5	+	17	1945	c.1900G>T	c.(1900-1902)Ggg>Tgg	p.G634W	ADAM18_ENST00000523755.1_3'UTR|ADAM18_ENST00000541111.1_Missense_Mutation_p.G48W|ADAM18_ENST00000379866.1_Missense_Mutation_p.G610W	NM_014237.2	NP_055052.1	Q9Y3Q7	ADA18_HUMAN	ADAM metallopeptidase domain 18	634	EGF-like.				cell differentiation|multicellular organismal development|proteolysis|spermatogenesis	integral to membrane|membrane fraction	metalloendopeptidase activity|zinc ion binding			NS(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(31)|ovary(1)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)	71		all_cancers(7;1.32e-05)|all_epithelial(6;3.08e-10)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00769)|Breast(189;0.0112)	LUSC - Lung squamous cell carcinoma(45;0.000199)			CAAAGGGAAAGGGGTAAGTCA	0.338													T	39550197	G	T	39550197	3	4	364	1	0	0	0	0	1	0	0	0	239	1000	35	4	1966	4	ADAM18	8	39550197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	39550197	106813825	6740	30242											
ZMAT4	79698	broad.mit.edu	37	chr8	40554769	40554769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcctgcacgtacctgtgGtctttaatggggtcttctct	4	17	10	10	1	3	0	0	0	3	0	5	0	4	0	2	3	2	3	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:40554769G>A	ENST00000297737.6	-	4	490	c.344C>T	c.(343-345)aCc>aTc	p.T115I	ZMAT4_ENST00000315769.7_Missense_Mutation_p.T115I	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	115						nucleus	DNA binding|zinc ion binding	p.T115I(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			CGTACCTGTGGTCTTTAATGG	0.507													A	40554769	G	A	40554769	3	1	364	1	0	0	0	0	1	0	0	0	17795	1261	44	2	361	2	ZMAT4	8	40554769	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1004572	40554769	105809253	6741	30243											
SFRP1	6422	broad.mit.edu	37	chr8	41122976	41122977	+	Frame_Shift_Ins	INS	-	-	T																															atcttcttgtcgccattttcINSttttttcacttcttttattt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41122976_41122977insT	ENST00000220772.3	-	3	991_992	c.654_655insA	c.(652-657)aaagaafs	p.E219fs	SFRP1_ENST00000379845.3_Frame_Shift_Ins_p.E83fs	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	219	NTR.				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			TCGCCATTTTCTTTTTTCACTT	0.421													T	41122977	-	T	41122976	7	5	364	1	0	1	1	0	0	0	0	0	14254	922	32	0	293	0	SFRP1	8	41122976	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	568207	41122976	105241046	6742	30244											
ANK1	286	broad.mit.edu	37	chr8	41559097	41559097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagacatccaggatctcaTcaactgtctcagggaaactc	12	8	8	13	1	3	1	3	0	2	1	7	4	4	3	2	2	2	0	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:41559097T>C	ENST00000396942.1	-	22	2515	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	ANK1_ENST00000352337.4_Missense_Mutation_p.D811G|ANK1_ENST00000265709.8_Missense_Mutation_p.D844G|ANK1_ENST00000347528.4_Missense_Mutation_p.D811G|ANK1_ENST00000289734.7_Missense_Mutation_p.D811G|ANK1_ENST00000396945.1_Missense_Mutation_p.D811G|ANK1_ENST00000379758.2_Missense_Mutation_p.D811G			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	811	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			CAGGATCTCATCAACTGTCTC	0.493											OREG0018740	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	41559097	T	C	41559097	3	2	364	1	0	0	0	0	1	0	0	0	620	1435	50	3	3651	3	ANK1	8	41559097	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	436121	41559097	104804925	6743	30245											
IKBKB	3551	broad.mit.edu	37	chr8	42163935	42163935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttgcacatcattcgtgggGaccctgcagtacctggtaag	8	11	11	11	1	1	0	1	0	0	0	2	1	1	1	2	3	3	4	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42163935G>A	ENST00000520810.1	+	7	738	c.552G>A	c.(550-552)ggG>ggA	p.G184G	IKBKB_ENST00000416505.2_Silent_p.G125G|IKBKB_ENST00000520835.1_Silent_p.G182G|IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000519735.1_Silent_p.G184G	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	184	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	CATTCGTGGGGACCCTGCAGT	0.512													A	42163935	G	A	42163935	2	1	364	1	0	0	0	0	0	0	0	1	7669	1161	41	2		2	IKBKB	8	42163935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	604838	42163935	104200087	6744	30246											
POLB	5423	broad.mit.edu	37	chr8	42196180	42196180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccgcaggagactctcaacgGgggaatcaccgacatgctca	11	5	12	13	3	3	1	3	0	1	1	4	4	3	2	2	3	2	2	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42196180G>T	ENST00000265421.4	+	1	208	c.38G>T	c.(37-39)gGg>gTg	p.G13V	POLB_ENST00000530566.1_Intron|POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	13					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	ACTCTCAACGGGGGAATCACC	0.622								DNA polymerases (catalytic subunits)					T	42196180	G	T	42196180	3	4	364	1	0	0	0	0	1	0	0	0	12266	1232	43	4	40	4	POLB	8	42196180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32245	42196180	104167842	6745	30247											
DKK4	27121	broad.mit.edu	37	chr8	42234530	42234530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcccaggggagagcagaGccagctcagccccagcagga	11	2	14	14	0	1	2	1	0	0	2	2	4	2	3	4	3	6	4	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234530G>A	ENST00000220812.2	-	1	220	c.34C>T	c.(34-36)Ctc>Ttc	p.L12F		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	12					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			GGAGAGCAGAGCCAGCTCAGC	0.657													A	42234530	G	A	42234530	3	1	364	1	0	0	0	0	1	0	0	0	4586	971	34	2	656	2	DKK4	8	42234530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38350	42234530	104129492	6746	30248											
DKK4	27121	broad.mit.edu	37	chr8	42234556	42234556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccccagcaggacggccGccaccatccttcaatcccgg	8	5	9	19	3	2	0	2	0	0	0	4	1	4	1	7	3	2	1	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42234556G>A	ENST00000220812.2	-	1	194	c.8C>T	c.(7-9)gCg>gTg	p.A3V		NM_014420.2	NP_055235.1	Q9UBT3	DKK4_HUMAN	dickkopf WNT signaling pathway inhibitor 4	3					multicellular organismal development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular region				NS(1)|endometrium(1)|large_intestine(7)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|Lung(22;0.00597)|LUSC - Lung squamous cell carcinoma(45;0.024)			CAGGACGGCCGCCACCATCCT	0.647													A	42234556	G	A	42234556	3	1	364	1	0	0	0	0	1	0	0	0	4586	1087	38	1	682	1	DKK4	8	42234556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26	42234556	104129466	6747	30249											
VDAC3	7419	broad.mit.edu	37	chr8	42260974	42260974	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggattgtagaacttctCtctctgtaagaatgtgctgc	8	15	10	8	0	2	2	0	0	2	2	4	3	2	3	0	1	4	4	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42260974C>A	ENST00000392935.3	+	8	843	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	VDAC3_ENST00000022615.4_Missense_Mutation_p.L233I|VDAC3_ENST00000521158.1_Missense_Mutation_p.L234I|VDAC3_ENST00000522572.1_Intron	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	233					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	TAGAACTTCTCTCTCTGTAAG	0.398													A	42260974	C	A	42260974	3	1	364	1	0	0	0	0	1	0	0	0	17250	913	32	4	722	4	VDAC3	8	42260974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26418	42260974	104103048	6748	30250											
SLC20A2	6575	broad.mit.edu	37	chr8	42320605	42320605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagatataaaccaagaaGcaactgaataattaaaaaaa	23	7	7	4	0	0	3	0	1	0	2	0	4	0	3	1	1	3	1	1	1	12	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42320605G>A	ENST00000342228.3	-	4	803	c.434C>T	c.(433-435)gCt>gTt	p.A145V	SLC20A2_ENST00000520262.1_Missense_Mutation_p.A145V|SLC20A2_ENST00000520179.1_Missense_Mutation_p.A145V	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	145					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AAACCAAGAAGCAACTGAATA	0.308													A	42320605	G	A	42320605	3	1	364	1	0	0	0	0	1	0	0	0	14533	971	34	2	1556	2	SLC20A2	8	42320605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59631	42320605	104043417	6749	30251											
SLC20A2	6575	broad.mit.edu	37	chr8	42329808	42329808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagagcccacggctgtaCcaaaggagttggcaacatcg	12	5	11	13	2	0	1	0	0	0	1	1	2	0	2	3	3	3	4	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329808C>T	ENST00000342228.3	-	2	470	c.101G>A	c.(100-102)gGt>gAt	p.G34D	SLC20A2_ENST00000520262.1_Missense_Mutation_p.G34D|SLC20A2_ENST00000520179.1_Missense_Mutation_p.G34D	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	34					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACGGCTGTACCAAAGGAGTT	0.478													T	42329808	C	T	42329808	3	4	364	1	0	0	0	0	1	0	0	0	14533	507	18	2	1897	2	SLC20A2	8	42329808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9203	42329808	104034214	6750	30252											
SLC20A2	6575	broad.mit.edu	37	chr8	42329846	42329846	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtttgcaccaacagaaaaGgccaagatgaaagctatgat	16	8	9	8	1	0	4	0	2	0	2	1	4	0	4	2	1	3	3	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42329846G>T	ENST00000342228.3	-	2	432	c.63C>A	c.(61-63)gcC>gcA	p.A21A	SLC20A2_ENST00000520262.1_Silent_p.A21A|SLC20A2_ENST00000520179.1_Silent_p.A21A	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	21					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAACAGAAAAGGCCAAGATGA	0.463													T	42329846	G	T	42329846	2	4	364	1	0	0	0	0	0	0	0	1	14533	987	35	4		4	SLC20A2	8	42329846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38	42329846	104034176	6751	30253											
CHRNB3	1142	broad.mit.edu	37	chr8	42552708	42552708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatgctcccagattttatgCtggttctcatcgtccttggc	5	15	9	12	2	1	1	1	0	1	1	5	2	3	1	2	2	2	3	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42552708C>T	ENST00000289957.2	+	1	147	c.19C>T	c.(19-21)Ctg>Ttg	p.L7L	CHRNB3_ENST00000531610.1_3'UTR	NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	7					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			AGATTTTATGCTGGTTCTCAT	0.398													T	42552708	C	T	42552708	2	4	364	1	0	0	0	0	0	0	0	1	3422	796	28	2		2	CHRNB3	8	42552708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222862	42552708	103811314	6752	30254											
THAP1	55145	broad.mit.edu	37	chr8	42694369	42694369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaatattgtgggcacaGcattctctttcagtaacttg	13	13	8	7	0	2	1	1	0	1	1	3	1	2	1	0	1	2	3	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42694369G>T	ENST00000254250.3	-	2	457	c.227C>A	c.(226-228)gCt>gAt	p.A76D	THAP1_ENST00000532093.1_5'UTR|THAP1_ENST00000345117.2_Intron	NM_018105.2	NP_060575.1	Q9NVV9	THAP1_HUMAN	THAP domain containing, apoptosis associated protein 1	76					cell cycle|endothelial cell proliferation|regulation of mitotic cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	sequence-specific DNA binding|zinc ion binding			NS(1)|lung(4)|prostate(1)|skin(1)	7	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Acute lymphoblastic leukemia(644;0.000299)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0377)|LUSC - Lung squamous cell carcinoma(45;0.0869)			TGTGGGCACAGCATTCTCTTT	0.353													T	42694369	G	T	42694369	3	4	364	1	0	0	0	0	1	0	0	0	15941	971	34	4	422	4	THAP1	8	42694369	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141661	42694369	103669653	6753	30255											
HOOK3	84376	broad.mit.edu	37	chr8	42841911	42841911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctagatgatgcaaatctacGcaagaatgaactggagacag	16	8	10	7	1	2	5	0	2	2	3	2	6	2	5	0	1	3	2	0	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:42841911G>A	ENST00000307602.4	+	15	1705	c.1505G>A	c.(1504-1506)cGc>cAc	p.R502H		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	502					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GCAAATCTACGCAAGAATGAA	0.393			T	RET	papillary thyroid								A	42841911	G	A	42841911	3	1	364	1	0	0	0	0	1	0	0	0	7339	1087	38	1	1563	1	HOOK3	8	42841911	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147542	42841911	103522111	6754	30256											
HGSNAT	138050	broad.mit.edu	37	chr8	43002131	43002131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagctgaagatggatcaGgctttgctactcatccataa	12	10	10	9	0	2	3	2	1	0	2	3	4	3	4	1	2	3	4	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43002131G>T	ENST00000458501.2	+	2	243	c.243G>T	c.(241-243)caG>caT	p.Q81H	HGSNAT_ENST00000379644.4_Missense_Mutation_p.Q53H			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase	81					lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGATGGATCAGGCTTTGCTAC	0.378													T	43002131	G	T	43002131	3	4	364	1	0	0	0	0	1	0	0	0	7143	991	35	4	165	4	HGSNAT	8	43002131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160220	43002131	103361891	6755	30257											
HGSNAT	138050	broad.mit.edu	37	chr8	43014188	43014188	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagttgatagtaaccttcGtacgtatatgttctctgctg	8	16	8	9	2	1	1	0	1	1	0	4	1	2	1	2	0	3	6	2	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43014188G>A	ENST00000458501.2	+	4	577		c.e4+1		HGSNAT_ENST00000379644.4_Splice_Site			Q68CP4	HGNAT_HUMAN	heparan-alpha-glucosaminide N-acetyltransferase						lysosomal transport|protein oligomerization	integral to membrane|lysosomal membrane	heparan-alpha-glucosaminide N-acetyltransferase activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(6)	13	Prostate(17;0.0119)|Ovarian(28;0.0172)|Lung SC(25;0.184)	all_cancers(86;0.000223)|all_epithelial(80;1.61e-07)|all_lung(54;0.00021)|Lung NSC(58;0.000778)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.0777)|LUSC - Lung squamous cell carcinoma(45;0.17)			AGTAACCTTCGTACGTATATG	0.393													A	43014188	G	A	43014188	5	1	364	1	0	0	0	0	0	0	1	0	7143	1159	40	1	508	1	HGSNAT	8	43014188	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12057	43014188	103349834	6756	30258											
POTEA	340441	broad.mit.edu	37	chr8	43152139	43152140	+	RNA	INS	-	-	A																															atagtgcattacaatttcctINSaaaaaagtctctcactctct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:43152139_43152140insA	ENST00000522175.2	+	0	301							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TACAATTTCCTAAAAAAGTCTC	0.381													A	43152140	-	A	43152139	6	5	364	0	1	1	1	0	0	0	0	0	12338	1537	53	0		0	POTEA	8	43152139	RNA	INS	-	TCGA-DU-6392-01A-11D-1705-08	137951	43152139	103211883	6757	30259											
PRKDC	5591	broad.mit.edu	37	chr8	48715981	48715981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcaccagccaatcgtCtctggtttttgactctttat	7	15	6	13	1	3	1	1	1	2	0	5	1	3	1	3	1	2	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715981C>A	ENST00000314191.2	-	71	9861	c.9805G>T	c.(9805-9807)Gac>Tac	p.D3269Y	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.D3269Y	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3270	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCCAATCGTCTCTGGTTTTT	0.498								Non-homologous end-joining					A	48715981	C	A	48715981	3	1	364	1	0	0	0	0	1	0	0	0	12607	913	32	4	2646	4	PRKDC	8	48715981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5563842	48715981	97648041	6758	30260											
PRKDC	5591	broad.mit.edu	37	chr8	48715996	48715996	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtctctggtttttgactCtttatgcagctccttcagta	6	18	7	10	1	3	1	1	1	2	0	6	1	4	1	1	1	2	4	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48715996C>A	ENST00000314191.2	-	71	9846	c.9790G>T	c.(9790-9792)Gag>Tag	p.E3264*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E3264*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3265	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GTTTTTGACTCTTTATGCAGC	0.493								Non-homologous end-joining					A	48715996	C	A	48715996	4	1	364	1	0	0	0	0	0	1	0	0	12607	922	32	4	2661	4	PRKDC	8	48715996	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15	48715996	97648026	6759	30261											
PRKDC	5591	broad.mit.edu	37	chr8	48731985	48731985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgcttataaagctgatGaactcctgaatttctgttaa	11	17	7	6	0	1	3	0	3	1	0	2	3	2	3	1	0	3	4	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48731985G>T	ENST00000314191.2	-	68	9476	c.9420C>A	c.(9418-9420)ttC>ttA	p.F3140L	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.F3140L	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3141	FAT.|KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TAAAGCTGATGAACTCCTGAA	0.299								Non-homologous end-joining					T	48731985	G	T	48731985	3	4	364	1	0	0	0	0	1	0	0	0	12607	1281	45	4	3043	4	PRKDC	8	48731985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15989	48731985	97632037	6760	30262											
PRKDC	5591	broad.mit.edu	37	chr8	48749833	48749833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggataatctgggctcatGctggtcatttcgagcagaaa	10	13	11	7	1	3	1	2	0	1	1	4	3	3	2	0	3	2	3	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48749833G>A	ENST00000314191.2	-	58	7754	c.7698C>T	c.(7696-7698)agC>agT	p.S2566S	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.S2566S	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2567	KIP-binding.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTGGGCTCATGCTGGTCATTT	0.403								Non-homologous end-joining					A	48749833	G	A	48749833	2	1	364	1	0	0	0	0	0	0	0	1	12607	1310	46	2		2	PRKDC	8	48749833	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17848	48749833	97614189	6761	30263											
PRKDC	5591	broad.mit.edu	37	chr8	48761853	48761853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcagcagaaagaacacaGcattcatgaacctggcgggg	13	6	13	9	1	1	3	1	1	0	2	1	3	1	3	1	4	4	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48761853G>A	ENST00000314191.2	-	55	7195	c.7139C>T	c.(7138-7140)gCt>gTt	p.A2380V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A2380V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2381					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AAAGAACACAGCATTCATGAA	0.542								Non-homologous end-joining					A	48761853	G	A	48761853	3	1	364	1	0	0	0	0	1	0	0	0	12607	971	34	2	5376	2	PRKDC	8	48761853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12020	48761853	97602169	6762	30264											
PRKDC	5591	broad.mit.edu	37	chr8	48766717	48766717	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgcctagcaattgaaTccctactgagttgtctttag	10	13	8	10	1	1	2	0	2	1	0	2	3	2	2	2	0	3	2	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48766717T>C	ENST00000314191.2	-	52	6873	c.6817A>G	c.(6817-6819)Att>Gtt	p.I2273V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.I2273V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2274					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCAATTGAATCCCTACTGAG	0.403								Non-homologous end-joining					C	48766717	T	C	48766717	3	2	364	1	0	0	0	0	1	0	0	0	12607	1435	50	3	5710	3	PRKDC	8	48766717	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4864	48766717	97597305	6763	30265											
PRKDC	5591	broad.mit.edu	37	chr8	48771461	48771461	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgtgcttgaccagggcCgtcaggggcgccatgcactc	6	8	14	13	2	1	1	1	1	0	0	2	1	1	1	3	3	3	3	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48771461C>T	ENST00000314191.2	-	48	6347	c.6291G>A	c.(6289-6291)acG>acA	p.T2097T	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.T2097T	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	2098					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGACCAGGGCCGTCAGGGGCG	0.567								Non-homologous end-joining					T	48771461	C	T	48771461	2	4	364	1	0	0	0	0	0	0	0	1	12607	639	23	1		1	PRKDC	8	48771461	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4744	48771461	97592561	6764	30266											
PRKDC	5591	broad.mit.edu	37	chr8	48826496	48826496	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctgtgagcgctaattCtgtgactcgaggcaggaaca	10	9	13	9	2	1	2	0	2	1	0	2	4	1	3	0	3	2	3	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48826496C>A	ENST00000314191.2	-	24	2802	c.2746G>T	c.(2746-2748)Gaa>Taa	p.E916*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.E916*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	916					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding	p.V909_L917delVFLPRVTEL(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AGCGCTAATTCTGTGACTCGA	0.423								Non-homologous end-joining					A	48826496	C	A	48826496	4	1	364	1	0	0	0	0	0	1	0	0	12607	922	32	4	9891	4	PRKDC	8	48826496	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55035	48826496	97537526	6765	30267											
MCM4	4173	broad.mit.edu	37	chr8	48883349	48883349	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagtgacaacggcatctgCtgtatcgatgagttcgacaa	11	10	11	9	3	1	3	0	3	1	0	3	5	1	3	0	1	2	4	0	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48883349C>A	ENST00000262105.2	+	11	1922	c.1713C>A	c.(1711-1713)tgC>tgA	p.C571*	MCM4_ENST00000523944.1_Nonsense_Mutation_p.C571*	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	571	MCM.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				ACGGCATCTGCTGTATCGATG	0.502													A	48883349	C	A	48883349	4	1	364	1	0	0	0	0	0	1	0	0	9464	805	28	4	1755	4	MCM4	8	48883349	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56853	48883349	97480673	6766	30268											
MCM4	4173	broad.mit.edu	37	chr8	48885589	48885589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacagcaccatcatgccgCggctaagtgaggaagccagc	11	4	12	14	3	1	1	1	1	0	0	1	2	1	2	3	2	4	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48885589C>T	ENST00000262105.2	+	13	2310	c.2101C>T	c.(2101-2103)Cgg>Tgg	p.R701W	MCM4_ENST00000523944.1_Missense_Mutation_p.R701W	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	701					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				CATCATGCCGCGGCTAAGTGA	0.552													T	48885589	C	T	48885589	3	4	364	1	0	0	0	0	1	0	0	0	9464	759	27	1	2151	1	MCM4	8	48885589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2240	48885589	97478433	6767	30269											
MCM4	4173	broad.mit.edu	37	chr8	48887319	48887319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtagacatgaggaagattgGcagtagccggggaatggttt	11	10	16	4	1	0	3	0	1	0	2	0	5	0	5	1	5	1	4	1	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:48887319G>A	ENST00000262105.2	+	14	2371	c.2162G>A	c.(2161-2163)gGc>gAc	p.G721D	MCM4_ENST00000523944.1_Missense_Mutation_p.G721D	NM_005914.3	NP_005905.2	P33991	MCM4_HUMAN	minichromosome maintenance complex component 4	721					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(7)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	44		all_cancers(86;0.026)|all_epithelial(80;0.000748)|Lung NSC(129;0.00327)|all_lung(136;0.00354)				AGGAAGATTGGCAGTAGCCGG	0.408													A	48887319	G	A	48887319	3	1	364	1	0	0	0	0	1	0	0	0	9464	1203	42	2	2216	2	MCM4	8	48887319	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1730	48887319	97476703	6768	30270											
ST18	9705	broad.mit.edu	37	chr8	53076618	53076618	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcctgggacattgccaatTtttcagctgcagcaattgga	10	13	9	9	0	1	0	1	0	0	0	2	2	2	2	2	2	4	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53076618T>G	ENST00000276480.7	-	13	2011	c.1328A>C	c.(1327-1329)aAa>aCa	p.K443T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	443						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				CATTGCCAATTTTTCAGCTGC	0.418													G	53076618	T	G	53076618	3	3	364	1	0	0	0	0	1	0	0	0	15308	1841	64	5	1871	5	ST18	8	53076618	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4189299	53076618	93287404	6769	30271											
ST18	9705	broad.mit.edu	37	chr8	53084707	53084707	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggataaatttgtcaccttcAgtttttatttcaggaacttc	10	17	7	7	0	3	0	3	0	0	0	4	2	3	2	1	2	1	1	1	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084707A>G	ENST00000276480.7	-	10	1397	c.714T>C	c.(712-714)acT>acC	p.T238T		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	238						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTCACCTTCAGTTTTTATTT	0.428													G	53084707	A	G	53084707	2	3	364	1	0	0	0	0	0	0	0	1	15308	175	7	3		3	ST18	8	53084707	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8089	53084707	93279315	6770	30272											
ST18	9705	broad.mit.edu	37	chr8	53084774	53084774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacatactttgggactctaGgtggtttggtttcttctgag	8	16	11	6	0	3	1	0	1	3	0	3	2	3	2	0	4	2	2	0	4	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53084774G>T	ENST00000276480.7	-	10	1330	c.647C>A	c.(646-648)cCt>cAt	p.P216H		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	216						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGGGACTCTAGGTGGTTTGGT	0.413													T	53084774	G	T	53084774	3	4	364	1	0	0	0	0	1	0	0	0	15308	1000	35	4	2564	4	ST18	8	53084774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	53084774	93279248	6771	30273											
RB1CC1	9821	broad.mit.edu	37	chr8	53570292	53570292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaatagtttcaaaatcaaaCgtatgtgcatcaatactatc	16	12	6	7	1	3	0	3	0	0	0	4	1	3	1	0	1	3	3	0	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53570292C>T	ENST00000025008.5	-	15	2620	c.2097G>A	c.(2095-2097)acG>acA	p.T699T	RB1CC1_ENST00000435644.2_Silent_p.T699T|RB1CC1_ENST00000539297.1_Silent_p.T699T|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	699					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CAAAATCAAACGTATGTGCAT	0.398													T	53570292	C	T	53570292	2	4	364	1	0	0	0	0	0	0	0	1	13187	523	19	1		1	RB1CC1	8	53570292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	485518	53570292	92793730	6772	30274											
RB1CC1	9821	broad.mit.edu	37	chr8	53586799	53586799	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttaggcactccaacagtGgaatcttggccattactgaa	11	11	10	9	0	1	1	0	1	1	0	2	2	2	2	2	4	2	2	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53586799G>T	ENST00000025008.5	-	7	1131	c.608C>A	c.(607-609)cCa>cAa	p.P203Q	RB1CC1_ENST00000435644.2_Missense_Mutation_p.P203Q|RB1CC1_ENST00000539297.1_Missense_Mutation_p.P203Q|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	203					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				CTCCAACAGTGGAATCTTGGC	0.373													T	53586799	G	T	53586799	3	4	364	1	0	0	0	0	1	0	0	0	13187	1348	47	4	4248	4	RB1CC1	8	53586799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16507	53586799	92777223	6773	30275											
NPBWR1	2831	broad.mit.edu	37	chr8	53852687	53852687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaagaccgtcaccaacCtgttcatcctcaacctggcc	10	8	7	16	1	3	2	3	1	0	1	4	2	4	2	6	1	2	2	6	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53852687C>A	ENST00000331251.3	+	1	1697	c.220C>A	c.(220-222)Ctg>Atg	p.L74M		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	74					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				CGTCACCAACCTGTTCATCCT	0.647													A	53852687	C	A	53852687	3	1	364	1	0	0	0	0	1	0	0	0	10644	680	24	4	222	4	NPBWR1	8	53852687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265888	53852687	92511335	6774	30276											
NPBWR1	2831	broad.mit.edu	37	chr8	53853034	53853034	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggccggcgccagtgcgtGctagtctttccgcagcccga	5	7	14	15	5	1	0	0	0	1	0	2	1	2	0	4	2	3	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:53853034G>A	ENST00000331251.3	+	1	2044	c.567G>A	c.(565-567)gtG>gtA	p.V189V		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	189					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				GCCAGTGCGTGCTAGTCTTTC	0.687													A	53853034	G	A	53853034	2	1	364	1	0	0	0	0	0	0	0	1	10644	1306	46	2		2	NPBWR1	8	53853034	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347	53853034	92510988	6775	30277											
LYPLA1	10434	broad.mit.edu	37	chr8	54963656	54963656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtttttagtttttccacCgtaagagaaccaaacatcag	14	13	6	8	1	1	1	1	0	0	1	2	2	2	1	3	0	2	3	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:54963656C>T	ENST00000316963.3	-	8	748	c.555G>A	c.(553-555)acG>acA	p.T185T	LYPLA1_ENST00000522007.1_3'UTR|LYPLA1_ENST00000343231.6_Silent_p.T169T	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	185					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			GTTTTTCCACCGTAAGAGAAC	0.443													T	54963656	C	T	54963656	2	4	364	1	0	0	0	0	0	0	0	1	9187	639	23	1		1	LYPLA1	8	54963656	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1110622	54963656	91400366	6776	30278											
MRPL15	29088	broad.mit.edu	37	chr8	55055240	55055240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgctgacacctttacGgcaaaagttaatattgaagt	13	11	10	7	1	0	2	0	2	0	0	0	2	0	2	1	2	2	3	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55055240G>A	ENST00000260102.4	+	4	521	c.447G>A	c.(445-447)acG>acA	p.T149T		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	149					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			ACACCTTTACGGCAAAAGTTA	0.368													A	55055240	G	A	55055240	2	1	364	1	0	0	0	0	0	0	0	1	9856	1103	39	1		1	MRPL15	8	55055240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91584	55055240	91308782	6777	30279											
RP1	6101	broad.mit.edu	37	chr8	55539476	55539476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagacacaggttggatctCtgaatgatgcttatttggtt	10	15	11	5	0	1	3	0	3	1	1	2	5	1	4	0	3	1	3	0	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55539476C>A	ENST00000220676.1	+	4	3182	c.3034C>A	c.(3034-3036)Ctg>Atg	p.L1012M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1012					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GGTTGGATCTCTGAATGATGC	0.388													A	55539476	C	A	55539476	3	1	364	1	0	0	0	0	1	0	0	0	13623	912	32	4	3044	4	RP1	8	55539476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	484236	55539476	90824546	6778	30280											
RP1	6101	broad.mit.edu	37	chr8	55541245	55541245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcctgacagtgacagtgaGcagccatataaaacatccag	14	6	10	11	1	0	3	0	3	0	0	1	3	1	3	3	1	3	1	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541245G>T	ENST00000220676.1	+	4	4951	c.4803G>T	c.(4801-4803)gaG>gaT	p.E1601D		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1601					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTGACAGTGAGCAGCCATATA	0.393													T	55541245	G	T	55541245	3	4	364	1	0	0	0	0	1	0	0	0	13623	962	34	4	4813	4	RP1	8	55541245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1769	55541245	90822777	6779	30281											
RP1	6101	broad.mit.edu	37	chr8	55541382	55541382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattatcaaaccatctttttTtcctgggtctacccgcaaat	10	16	4	11	1	3	0	1	0	2	0	4	0	4	0	3	1	2	1	3	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55541382T>G	ENST00000220676.1	+	4	5088	c.4940T>G	c.(4939-4941)tTt>tGt	p.F1647C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1647					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			CCATCTTTTTTTCCTGGGTCT	0.373													G	55541382	T	G	55541382	3	3	364	1	0	0	0	0	1	0	0	0	13623	1841	64	5	4950	5	RP1	8	55541382	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	137	55541382	90822640	6780	30282											
RP1	6101	broad.mit.edu	37	chr8	55542081	55542081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtaacaaagtctaccCtgtctctgatgatgctatta	10	14	8	9	0	2	2	0	2	2	0	3	2	2	2	1	1	4	3	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:55542081C>A	ENST00000220676.1	+	4	5787	c.5639C>A	c.(5638-5640)cCt>cAt	p.P1880H		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1880					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1880L(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAAGTCTACCCTGTCTCTGAT	0.398													A	55542081	C	A	55542081	3	1	364	1	0	0	0	0	1	0	0	0	13623	681	24	4	5649	4	RP1	8	55542081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	699	55542081	90821941	6781	30283											
IMPAD1	54928	broad.mit.edu	37	chr8	57876370	57876370	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcatttatgtcctgtcttTtctagatctgggagttttct	5	20	8	8	0	5	1	1	0	4	1	6	2	6	2	1	1	0	2	1	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:57876370T>G	ENST00000262644.4	-	5	1320	c.1062A>C	c.(1060-1062)gaA>gaC	p.E354D		NM_017813.4	NP_060283.3	Q9NX62	IMPA3_HUMAN	inositol monophosphatase domain containing 1	354						Golgi apparatus|integral to membrane	inositol-1(or 4)-monophosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		all_cancers(86;0.175)|all_lung(136;0.0321)|Lung NSC(129;0.0417)|all_epithelial(80;0.0448)				GTCCTGTCTTTTCTAGATCTG	0.458													G	57876370	T	G	57876370	3	3	364	1	0	0	0	0	1	0	0	0	7783	1838	64	5	21	5	IMPAD1	8	57876370	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2334289	57876370	88487652	6782	30284											
FAM110B	90362	broad.mit.edu	37	chr8	59059400	59059400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagctcttcggacatccGcaaggtgaccagcgtgaagc	10	6	11	14	3	1	2	0	2	1	0	3	3	2	3	3	2	3	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59059400G>A	ENST00000361488.3	+	5	1491	c.611G>A	c.(610-612)cGc>cAc	p.R204H	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	204						microtubule organizing center|mitochondrion|nucleus		p.R204H(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				TCGGACATCCGCAAGGTGACC	0.657													A	59059400	G	A	59059400	3	1	364	1	0	0	0	0	1	0	0	0	5442	1087	38	1	613	1	FAM110B	8	59059400	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1183030	59059400	87304622	6783	30285											
CYP7A1	1581	broad.mit.edu	37	chr8	59409377	59409377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctcccgggcattgtGcgcagtcctgaacatgtgaa	8	11	11	11	2	1	2	0	2	1	0	3	2	2	2	2	1	2	3	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59409377G>T	ENST00000301645.3	-	3	831	c.694C>A	c.(694-696)Cac>Aac	p.H232N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	232					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				CGGGCATTGTGCGCAGTCCTG	0.488									Neonatal Giant Cell Hepatitis				T	59409377	G	T	59409377	3	4	364	1	0	0	0	0	1	0	0	0	4229	1319	46	4	836	4	CYP7A1	8	59409377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	349977	59409377	86954645	6784	30286											
NSMAF	8439	broad.mit.edu	37	chr8	59498525	59498525	+	Silent	SNP	G	G	A																															acatcaatgacattaagacaGccatctgttcctgtgctgag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498525G>A	ENST00000038176.3	-	29	2693	c.2481C>T	c.(2479-2481)ggC>ggT	p.G827G	NSMAF_ENST00000427130.2_Silent_p.G858G	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	827					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				cattaagacagccatctgttc	0.463													A	59498525	G	A	59498525	2	1	364	1	0	0	0	0	0	0	0	1	10750	958	34	2		2	NSMAF	8	59498525	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89148	59498525	86865497	6785	30287	71	2									
NSMAF	8439	broad.mit.edu	37	chr8	59498535	59498535	+	Missense_Mutation	SNP	C	C	A																															cattaagacagccatctgttCctgtgctgaggacatggcga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59498535C>A	ENST00000038176.3	-	29	2683	c.2471G>T	c.(2470-2472)gGa>gTa	p.G824V	NSMAF_ENST00000427130.2_Missense_Mutation_p.G855V	NM_003580.3	NP_003571.2	Q92636	FAN_HUMAN	neutral sphingomyelinase (N-SMase) activation associated factor	824					ceramide metabolic process	cytoplasm|soluble fraction	protein binding|receptor signaling protein activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	38		all_lung(136;0.174)|Lung NSC(129;0.2)				gccatctgttcctgtgctgag	0.443													A	59498535	C	A	59498535	3	1	364	1	0	0	0	0	1	0	0	0	10750	855	30	4	294	4	NSMAF	8	59498535	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10	59498535	86865487	6786	30288	71	2									
TOX	9760	broad.mit.edu	37	chr8	59851961	59851961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggatgaaatggtagcaggCcattatggttcatggggtga	10	11	16	4	0	1	2	1	2	0	0	1	3	1	3	1	6	1	3	1	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:59851961C>T	ENST00000361421.1	-	3	531	c.311G>A	c.(310-312)gGc>gAc	p.G104D		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	104						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGGTAGCAGGCCATTATGGTT	0.488													T	59851961	C	T	59851961	3	4	364	1	0	0	0	0	1	0	0	0	16478	739	26	2	1297	2	TOX	8	59851961	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	353426	59851961	86512061	6787	30289											
RAB2A	5862	broad.mit.edu	37	chr8	61533300	61533300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acatgcaggcaatcagggagGacagcaggctgggggcggct	10	4	18	9	1	1	0	1	0	0	0	1	2	1	2	0	7	2	5	0	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61533300G>A	ENST00000262646.7	+	8	962	c.611G>A	c.(610-612)gGa>gAa	p.G204E	RAB2A_ENST00000529579.1_Missense_Mutation_p.D167N|RAB2A_ENST00000531289.1_Missense_Mutation_p.G180E|RAB2A_ENST00000530071.1_3'UTR	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	204					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			AATCAGGGAGGACAGCAGGCT	0.493													A	61533300	G	A	61533300	3	1	364	1	0	0	0	0	1	0	0	0	13005	1174	41	2	641	2	RAB2A	8	61533300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1681339	61533300	84830722	6788	30290											
CHD7	55636	broad.mit.edu	37	chr8	61654159	61654159	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagccatcccttcatcaTccttcaactaatcaaaatca	14	12	1	14	0	5	0	5	0	0	0	7	0	7	0	3	0	3	0	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61654159T>C	ENST00000423902.2	+	2	647	c.168T>C	c.(166-168)caT>caC	p.H56H	CHD7_ENST00000525508.1_Silent_p.H56H|CHD7_ENST00000524602.1_Silent_p.H56H	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	56					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			CCCTTCATCATCCTTCAACTA	0.413													C	61654159	T	C	61654159	2	2	364	1	0	0	0	0	0	0	0	1	3360	1432	50	3		3	CHD7	8	61654159	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120859	61654159	84709863	6789	30291											
CHD7	55636	broad.mit.edu	37	chr8	61750301	61750301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgattacaagaaattcctaTgaaagggaaatgttcgacaa	17	10	8	6	1	0	3	0	2	0	1	2	5	1	4	1	1	1	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:61750301T>C	ENST00000423902.2	+	18	4739	c.4260T>C	c.(4258-4260)taT>taC	p.Y1420Y	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1420	Helicase C-terminal.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAATTCCTATGAAAGGGAAA	0.393													C	61750301	T	C	61750301	2	2	364	1	0	0	0	0	0	0	0	1	3360	1471	51	3		3	CHD7	8	61750301	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	96142	61750301	84613721	6790	30292											
ASPH	444	broad.mit.edu	37	chr8	62475386	62475386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttaaggaagtatcatTgggaaatagttgaactaatc	15	15	8	3	0	1	1	1	1	0	0	2	3	1	3	0	2	1	2	0	2	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62475386T>C	ENST00000541428.1	-	18	1427	c.1267A>G	c.(1267-1269)Aat>Gat	p.N423D	ASPH_ENST00000379454.4_Missense_Mutation_p.N452D	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	452					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GAAGTATCATTGGGAAATAGT	0.358													C	62475386	T	C	62475386	3	2	364	1	0	0	0	0	1	0	0	0	1058	1812	63	3	954	3	ASPH	8	62475386	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	725085	62475386	83888636	6791	30293											
ASPH	444	broad.mit.edu	37	chr8	62563619	62563619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcataccatgttctgcGtgtaccatttcatggagaag	11	14	8	8	1	3	1	2	0	1	1	3	2	3	1	2	1	3	2	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:62563619G>A	ENST00000541428.1	-	5	553	c.393C>T	c.(391-393)caC>caT	p.H131H	ASPH_ENST00000517847.2_Silent_p.H146H|ASPH_ENST00000518068.1_Silent_p.H160H|ASPH_ENST00000379454.4_Silent_p.H160H|ASPH_ENST00000522835.1_Silent_p.H146H|ASPH_ENST00000517903.1_Silent_p.H146H|ASPH_ENST00000356457.5_Silent_p.H160H|ASPH_ENST00000445642.3_Silent_p.H146H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	160	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	CATGTTCTGCGTGTACCATTT	0.313													A	62563619	G	A	62563619	2	1	364	1	0	0	0	0	0	0	0	1	1058	1136	40	1		1	ASPH	8	62563619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88233	62563619	83800403	6792	30294											
GGH	8836	broad.mit.edu	37	chr8	63948219	63948219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacactgaatcataccttaCtggtacaactctcgcacctg	13	10	5	13	1	2	1	1	1	1	0	3	1	2	1	2	1	5	2	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:63948219C>T	ENST00000260118.6	-	2	622	c.220G>A	c.(220-222)Gta>Ata	p.V74I		NM_003878.2	NP_003869.1	Q92820	GGH_HUMAN	gamma-glutamyl hydrolase (conjugase, folylpolygammaglutamyl hydrolase)	74	Gamma-glutamyl hydrolase.				glutamine metabolic process	extracellular space|lysosome|melanosome	gamma-glutamyl-peptidase activity			breast(1)|kidney(1)|large_intestine(1)|liver(1)|lung(6)|stomach(1)	11	Breast(64;0.0716)	all_cancers(86;0.189)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.131)			Folic Acid(DB00158)|L-Glutamic Acid(DB00142)	TCATACCTTACTGGTACAACT	0.393													T	63948219	C	T	63948219	3	4	364	1	0	0	0	0	1	0	0	0	6413	565	20	2	768	2	GGH	8	63948219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1384600	63948219	82415803	6793	30295											
CYP7B1	9420	broad.mit.edu	37	chr8	65528285	65528285	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgcacataatatttctcCaggacatcttgcctgctttg	8	15	7	11	1	2	0	0	0	2	0	4	1	2	1	2	1	3	2	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:65528285C>A	ENST00000310193.3	-	3	986	c.813G>T	c.(811-813)ctG>ctT	p.L271L	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	271					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				AATATTTCTCCAGGACATCTT	0.353													A	65528285	C	A	65528285	2	1	364	1	0	0	0	0	0	0	0	1	4230	581	21	4		4	CYP7B1	8	65528285	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1580066	65528285	80835737	6794	30296											
MTFR1	9650	broad.mit.edu	37	chr8	66605934	66605934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagaggatgcagtggCgtcttttgctgatgttggat	7	12	15	7	1	1	2	0	1	1	1	1	5	1	4	1	4	2	3	1	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66605934C>T	ENST00000262146.4	+	4	347	c.221C>T	c.(220-222)gCg>gTg	p.A74V	MTFR1_ENST00000517944.1_3'UTR|MTFR1_ENST00000458689.2_Missense_Mutation_p.A41V	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	74						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGCAGTGGCGTCTTTTGCT	0.448													T	66605934	C	T	66605934	3	4	364	1	0	0	0	0	1	0	0	0	10001	768	27	1	231	1	MTFR1	8	66605934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1077649	66605934	79758088	6795	30297											
PDE7A	5150	broad.mit.edu	37	chr8	66637059	66637059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctaggcataaatcacCtctatccaaatgggacctaa	13	11	6	11	0	4	0	1	0	3	0	5	1	5	1	3	2	0	1	3	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:66637059C>A	ENST00000401827.3	-	10	1461	c.1018G>T	c.(1018-1020)Ggt>Tgt	p.G340C	PDE7A_ENST00000379419.4_Missense_Mutation_p.G314C|PDE7A_ENST00000396642.3_Missense_Mutation_p.G340C	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	340	Catalytic (By similarity).					cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	CATAAATCACCTCTATCCAAA	0.413													A	66637059	C	A	66637059	3	1	364	1	0	0	0	0	1	0	0	0	11727	681	24	4	478	4	PDE7A	8	66637059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31125	66637059	79726963	6796	30298											
ADHFE1	137872	broad.mit.edu	37	chr8	67355048	67355048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagcccctggactttcacCttctgggaaaacaacagatt	11	11	7	12	0	3	1	1	0	2	1	3	3	3	3	3	2	3	0	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67355048C>A	ENST00000396623.3	+	3	144	c.113C>A	c.(112-114)cCt>cAt	p.P38H	ADHFE1_ENST00000379385.4_Missense_Mutation_p.P38H|ADHFE1_ENST00000415254.1_5'UTR|ADHFE1_ENST00000496501.1_Intron	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	38					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGACTTTCACCTTCTGGGAAA	0.303													A	67355048	C	A	67355048	3	1	364	1	0	0	0	0	1	0	0	0	314	681	24	4	123	4	ADHFE1	8	67355048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	717989	67355048	79008974	6797	30299											
ADHFE1	137872	broad.mit.edu	37	chr8	67369316	67369316	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccccagccccatggcctTtctgtggtgctcacgtcccc	3	11	8	19	1	3	0	1	0	2	0	5	0	4	0	7	2	2	1	7	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67369316T>G	ENST00000396623.3	+	12	1108	c.1077T>G	c.(1075-1077)ctT>ctG	p.L359L	ADHFE1_ENST00000415254.1_Silent_p.L311L|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	359					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			CCCATGGCCTTTCTGTGGTGC	0.507													G	67369316	T	G	67369316	2	3	364	1	0	0	0	0	0	0	0	1	314	1828	64	5		5	ADHFE1	8	67369316	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14268	67369316	78994706	6798	30300											
ADHFE1	137872	broad.mit.edu	37	chr8	67372645	67372645	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatgatggcctagcagCtgttggttactccaaagctg	8	13	12	8	0	0	2	0	2	0	0	1	2	1	2	2	2	4	6	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67372645C>A	ENST00000396623.3	+	13	1296	c.1265C>A	c.(1264-1266)gCt>gAt	p.A422D	C8orf46_ENST00000482608.2_3'UTR|ADHFE1_ENST00000415254.1_Missense_Mutation_p.A374D|ADHFE1_ENST00000496501.1_3'UTR	NM_144650.2	NP_653251.2	Q8IWW8	HOT_HUMAN	alcohol dehydrogenase, iron containing, 1	422					2-oxoglutarate metabolic process|molecular hydrogen transport	mitochondrial matrix	hydroxyacid-oxoacid transhydrogenase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	29		Lung NSC(129;0.197)	Epithelial(68;0.0321)|all cancers(69;0.0751)|BRCA - Breast invasive adenocarcinoma(89;0.0855)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GGCCTAGCAGCTGTTGGTTAC	0.572											OREG0018808	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	67372645	C	A	67372645	3	1	364	1	0	0	0	0	1	0	0	0	314	797	28	4	1315	4	ADHFE1	8	67372645	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3329	67372645	78991377	6799	30301											
C8orf46	254778	broad.mit.edu	37	chr8	67428264	67428264	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacaaggcacaagaagAagtctgaatatgtgggagcc	14	7	14	6	0	1	3	0	1	1	2	1	5	1	5	1	3	1	1	1	3	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67428264A>T	ENST00000305454.3	+	6	1018	c.577A>T	c.(577-579)Aag>Tag	p.K193*	C8orf46_ENST00000522977.1_3'UTR	NM_152765.3	NP_689978.2	Q8TAG6	CH046_HUMAN	chromosome 8 open reading frame 46	193										endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(2)	6			Epithelial(68;0.0224)|BRCA - Breast invasive adenocarcinoma(89;0.0508)|all cancers(69;0.0558)|OV - Ovarian serous cystadenocarcinoma(28;0.226)			GCACAAGAAGAAGTCTGAATA	0.577													T	67428264	A	T	67428264	4	4	364	1	0	0	0	0	0	1	0	0	2456	247	9	5	599	5	C8orf46	8	67428264	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55619	67428264	78935758	6800	30302											
MYBL1	4603	broad.mit.edu	37	chr8	67484760	67484760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctcctgagcagcaagcGcattcttaaaaggagtagga	12	11	10	8	1	2	1	0	1	2	0	3	3	2	3	1	2	3	4	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67484760G>A	ENST00000522677.3	-	12	2095	c.1685C>T	c.(1684-1686)gCg>gTg	p.A562V	MYBL1_ENST00000524176.2_Missense_Mutation_p.A562V|MYBL1_ENST00000517885.1_Missense_Mutation_p.A220V	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	562					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			AGCAGCAAGCGCATTCTTAAA	0.294													A	67484760	G	A	67484760	3	1	364	1	0	0	0	0	1	0	0	0	10085	1087	38	1	593	1	MYBL1	8	67484760	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56496	67484760	78879262	6801	30303											
SGK3	23678	broad.mit.edu	37	chr8	67752295	67752295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacagagctaggttttacGctgctgaaattgctagtgca	11	11	11	8	1	0	2	0	1	0	1	0	2	0	2	0	1	6	7	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67752295G>A	ENST00000396596.1	+	11	1013	c.799G>A	c.(799-801)Gct>Act	p.A267T	C8orf44-SGK3_ENST00000519289.1_Missense_Mutation_p.A267T|SGK3_ENST00000522398.1_Missense_Mutation_p.A267T|SGK3_ENST00000521198.2_Missense_Mutation_p.A267T|SGK3_ENST00000521435.1_3'UTR|SGK3_ENST00000345714.4_Missense_Mutation_p.A267T|SGK3_ENST00000520976.1_Missense_Mutation_p.A267T	NM_013257.4	NP_037389.4	Q96BR1	SGK3_HUMAN	serum/glucocorticoid regulated kinase family, member 3	267	Protein kinase.				cell communication|response to stress	cytoplasmic membrane-bounded vesicle|early endosome	ATP binding|phosphatidylinositol binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	18	Breast(64;0.186)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0046)|OV - Ovarian serous cystadenocarcinoma(28;0.0112)|all cancers(69;0.0141)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TAGGTTTTACGCTGCTGAAAT	0.368													A	67752295	G	A	67752295	3	1	364	1	0	0	0	0	1	0	0	0	14305	1087	38	1	837	1	SGK3	8	67752295	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267535	67752295	78611727	6802	30304											
CSPP1	79848	broad.mit.edu	37	chr8	67998332	67998332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgcggcaagattacagacGttatcttactcaggtaatga	13	12	9	7	2	2	3	1	1	1	2	2	3	2	3	0	2	3	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:67998332G>A	ENST00000262210.5	+	4	429	c.398G>A	c.(397-399)cGt>cAt	p.R133H	CSPP1_ENST00000412460.1_5'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	133						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			GATTACAGACGTTATCTTACT	0.308													A	67998332	G	A	67998332	3	1	364	1	0	0	0	0	1	0	0	0	3995	1145	40	1	412	1	CSPP1	8	67998332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246037	67998332	78365690	6803	30305											
CSPP1	79848	broad.mit.edu	37	chr8	68107748	68107748	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaacgtttcatggcagagCagctgaaccaggagcagcag	13	6	13	9	1	1	3	1	2	0	1	1	4	1	4	1	2	6	6	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68107748C>T	ENST00000262210.5	+	29	3617	c.3586C>T	c.(3586-3588)Cag>Tag	p.Q1196*	CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron|CSPP1_ENST00000412460.1_Nonsense_Mutation_p.Q851*	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1231						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CATGGCAGAGCAGCTGAACCA	0.522													T	68107748	C	T	68107748	4	4	364	1	0	0	0	0	0	1	0	0	3995	711	25	2	3813	2	CSPP1	8	68107748	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109416	68107748	78256274	6804	30306											
ARFGEF1	10565	broad.mit.edu	37	chr8	68116985	68116985	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacaatgttgtcgataGtctggatgagttccagctgc	11	11	12	7	1	1	3	0	1	1	2	3	5	2	4	1	1	2	3	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68116985G>T	ENST00000262215.3	-	35	5278	c.4889C>A	c.(4888-4890)aCt>aAt	p.T1630N	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.T1084N|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.T468N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1630					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			GTTGTCGATAGTCTGGATGAG	0.443													T	68116985	G	T	68116985	3	4	364	1	0	0	0	0	1	0	0	0	855	1029	36	4	680	4	ARFGEF1	8	68116985	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9237	68116985	78247037	6805	30307											
ARFGEF1	10565	broad.mit.edu	37	chr8	68123763	68123763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcattaacagcagacgCagaaaccagtggtgcttgtg	11	11	10	9	1	2	2	1	0	1	2	2	2	2	2	1	1	4	3	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68123763C>G	ENST00000262215.3	-	34	5163	c.4774G>C	c.(4774-4776)Gcg>Ccg	p.A1592P	ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1046P|ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A430P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1592					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			ACAGCAGACGCAGAAACCAGT	0.323													G	68123763	C	G	68123763	3	3	364	1	0	0	0	0	1	0	0	0	855	710	25	4	799	4	ARFGEF1	8	68123763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6778	68123763	78240259	6806	30308											
CPA6	57094	broad.mit.edu	37	chr8	68334878	68334878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcgaaagcaaatgcataaGgtattccatttttgtaggcc	12	13	9	7	1	0	0	0	0	0	0	2	1	1	0	2	2	2	5	2	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68334878G>T	ENST00000297770.4	-	11	1390	c.1175C>A	c.(1174-1176)cCt>cAt	p.P392H	CPA6_ENST00000297769.4_Missense_Mutation_p.P148H	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	392					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			AAATGCATAAGGTATTCCATT	0.388													T	68334878	G	T	68334878	3	4	364	1	0	0	0	0	1	0	0	0	3825	1000	35	4	142	4	CPA6	8	68334878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211115	68334878	78029144	6807	30309											
CPA6	57094	broad.mit.edu	37	chr8	68430256	68430256	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccctctgatacataggaGatactgctgggctgccacag	9	10	11	11	0	1	2	0	1	1	1	2	3	2	2	2	2	4	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68430256G>A	ENST00000297770.4	-	3	434	c.219C>T	c.(217-219)atC>atT	p.I73I	CPA6_ENST00000518549.1_Silent_p.I73I|CPA6_ENST00000297769.4_5'UTR	NM_020361.4	NP_065094.3	Q8N4T0	CBPA6_HUMAN	carboxypeptidase A6	73					proteolysis	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(5)	26			Epithelial(68;0.04)|OV - Ovarian serous cystadenocarcinoma(28;0.0593)|all cancers(69;0.136)			ATACATAGGAGATACTGCTGG	0.478													A	68430256	G	A	68430256	2	1	364	1	0	0	0	0	0	0	0	1	3825	932	33	2		2	CPA6	8	68430256	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95378	68430256	77933766	6808	30310											
PREX2	80243	broad.mit.edu	37	chr8	68939479	68939479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatgctgcttggaggacGgaagaacacagatgttccct	10	9	12	10	1	0	2	0	0	0	2	1	5	1	5	1	3	4	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68939479G>A	ENST00000288368.4	+	5	741	c.464G>A	c.(463-465)cGg>cAg	p.R155Q	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	155	DH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	p.R155Q(2)		NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CTTGGAGGACGGAAGAACACA	0.358													A	68939479	G	A	68939479	3	1	364	1	0	0	0	0	1	0	0	0	12563	1116	39	1	482	1	PREX2	8	68939479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	509223	68939479	77424543	6809	30311											
PREX2	80243	broad.mit.edu	37	chr8	68995502	68995503	+	Frame_Shift_Ins	INS	-	-	T																															catggaagtcgggaaaaagaINStttttgctattaatggtgac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:68995502_68995503insT	ENST00000288368.4	+	18	2183_2184	c.1906_1907insT	c.(1906-1908)attfs	p.I636fs	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	636	PDZ 1.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						CGGGAAAAAGATTTTTGCTATT	0.317													T	68995503	-	T	68995502	7	5	364	1	0	1	1	0	0	0	0	0	12563	333	12	0	1976	0	PREX2	8	68995502	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	56023	68995502	77368520	6810	30312											
PREX2	80243	broad.mit.edu	37	chr8	69069574	69069574	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcactagagagcatggaaGgatattattacagagacaat	17	8	10	6	0	0	2	0	0	0	2	0	6	0	4	0	2	3	2	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69069574G>T	ENST00000288368.4	+	35	4526	c.4249G>T	c.(4249-4251)Gga>Tga	p.G1417*		NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	1417					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GAGCATGGAAGGATATTATTA	0.343													T	69069574	G	T	69069574	4	4	364	1	0	0	0	0	0	1	0	0	12563	1001	35	4	4616	4	PREX2	8	69069574	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74072	69069574	77294448	6811	30313											
C8orf34	116328	broad.mit.edu	37	chr8	69633665	69633665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaaagcatctaaactaaCaggacctgtaagtatattca	17	10	7	7	0	2	1	1	1	1	1	2	3	2	2	1	1	3	3	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:69633665C>T	ENST00000337103.4	+	9	2656	c.1064C>T	c.(1063-1065)aCa>aTa	p.T355I	C8orf34_ENST00000518698.1_Missense_Mutation_p.T466I|C8orf34_ENST00000539993.1_Missense_Mutation_p.T380I|C8orf34_ENST00000325233.3_Missense_Mutation_p.T124I			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	380					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			TCTAAACTAACAGGACCTGTA	0.274													T	69633665	C	T	69633665	3	4	364	1	0	0	0	0	1	0	0	0	2447	478	17	2	1098	2	C8orf34	8	69633665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564091	69633665	76730357	6812	30314											
SULF1	23213	broad.mit.edu	37	chr8	70514019	70514019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatatgactttgatattcGtgtgcctttttttattcgtg	6	20	8	7	2	0	2	0	2	0	0	2	2	0	2	2	0	1	0	2	0	3	9	rs61747207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70514019G>A	ENST00000260128.4	+	10	1733	c.1016G>A	c.(1015-1017)cGt>cAt	p.R339H	SULF1_ENST00000458141.2_Missense_Mutation_p.R339H|SULF1_ENST00000419716.3_Missense_Mutation_p.R339H|SULF1_ENST00000402687.4_Missense_Mutation_p.R339H|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	339					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding	p.R339H(1)		breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			TTTGATATTCGTGTGCCTTTT	0.423													A	70514019	G	A	70514019	3	1	364	1	0	0	0	0	1	0	0	0	15466	1145	40	1	1038	1	SULF1	8	70514019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	880354	70514019	75850003	6813	30315											
PRDM14	63978	broad.mit.edu	37	chr8	70964426	70964426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtgtgaacgccggacatgGctgtcatgggcagcatggga	8	9	16	8	2	1	1	1	1	0	0	1	3	1	3	1	4	2	3	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:70964426G>A	ENST00000276594.2	-	8	1803	c.1602C>T	c.(1600-1602)agC>agT	p.S534S		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCCGGACATGGCTGTCATGGG	0.502													A	70964426	G	A	70964426	2	1	364	1	0	0	0	0	0	0	0	1	12541	1194	42	2		2	PRDM14	8	70964426	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450407	70964426	75399596	6814	30316											
NCOA2	10499	broad.mit.edu	37	chr8	71075085	71075085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggtatccagagacgtgatCttgcctattaagtaacagca	12	11	9	9	1	1	2	0	1	1	1	2	3	2	2	2	1	3	3	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71075085C>T	ENST00000452400.2	-	9	1018	c.837G>A	c.(835-837)aaG>aaA	p.K279K		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	279					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			GAGACGTGATCTTGCCTATTA	0.403			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								T	71075085	C	T	71075085	2	4	364	1	0	0	0	0	0	0	0	1	10305	912	32	2		2	NCOA2	8	71075085	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110659	71075085	75288937	6815	30317											
NCOA2	10499	broad.mit.edu	37	chr8	71128943	71128943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctttcttgtctctgccCtggaggggtcagaggtattt	4	15	13	9	1	3	1	1	0	2	1	4	2	3	2	1	4	2	2	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71128943C>A	ENST00000452400.2	-	3	219	c.38G>T	c.(37-39)aGg>aTg	p.R13M		NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	13					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGTCTCTGCCCTGGAGGGGTC	0.433			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								A	71128943	C	A	71128943	3	1	364	1	0	0	0	0	1	0	0	0	10305	681	24	4	4440	4	NCOA2	8	71128943	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53858	71128943	75235079	6816	30318											
TRAM1	23471	broad.mit.edu	37	chr8	71495549	71495549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaacgcaaatggatgccaGaacagcgattctaagaaata	18	7	9	7	2	1	2	0	0	1	2	1	4	1	3	1	1	4	2	1	1	6	4	rs145093693	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71495549G>T	ENST00000521425.1	-	10	1679	c.643C>A	c.(643-645)Ctg>Atg	p.L215M	TRAM1_ENST00000536748.1_Missense_Mutation_p.L270M|TRAM1_ENST00000262213.2_Missense_Mutation_p.L301M			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	301	TLC.				cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			ATGGATGCCAGAACAGCGATT	0.343													T	71495549	G	T	71495549	3	4	364	1	0	0	0	0	1	0	0	0	16552	933	33	4	231	4	TRAM1	8	71495549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366606	71495549	74868473	6817	30319											
TRAM1	23471	broad.mit.edu	37	chr8	71510176	71510176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcaaaaaggtagaacGcactaagctgaccagattca	17	5	9	10	1	1	3	1	1	0	2	1	3	1	3	1	2	2	4	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:71510176G>A	ENST00000521425.1	-	4	1158	c.122C>T	c.(121-123)gCg>gTg	p.A41V	TRAM1_ENST00000536748.1_Missense_Mutation_p.A96V|TRAM1_ENST00000521049.1_5'UTR|TRAM1_ENST00000262213.2_Missense_Mutation_p.A127V			Q15629	TRAM1_HUMAN	translocation associated membrane protein 1	127					cotranslational protein targeting to membrane|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	protein binding|receptor activity			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)	17			Epithelial(68;0.00679)|all cancers(69;0.0324)|OV - Ovarian serous cystadenocarcinoma(28;0.0509)			AAGGTAGAACGCACTAAGCTG	0.358													A	71510176	G	A	71510176	3	1	364	1	0	0	0	0	1	0	0	0	16552	1087	38	1	776	1	TRAM1	8	71510176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14627	71510176	74853846	6818	30320											
TRPA1	8989	broad.mit.edu	37	chr8	72964986	72964986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccttcccttgcagcaaaGtgaagtgcagtgttcttttg	7	14	11	9	0	1	1	0	1	1	0	2	1	2	1	2	1	3	4	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:72964986G>T	ENST00000262209.4	-	14	1866	c.1659C>A	c.(1657-1659)caC>caA	p.H553Q	RP11-383H13.1_ENST00000457356.4_3'UTR|RP11-383H13.1_ENST00000537896.1_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	553						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGCAGCAAAGTGAAGTGCAG	0.458													T	72964986	G	T	72964986	3	4	364	1	0	0	0	0	1	0	0	0	16678	1020	36	4	1756	4	TRPA1	8	72964986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1454810	72964986	73399036	6819	30321											
KCNB2	9312	broad.mit.edu	37	chr8	73849975	73849975	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaagcagaaactgttcccTttctcttcaagagagaggag	12	9	9	11	0	2	3	1	0	1	3	4	5	3	4	2	1	2	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73849975T>A	ENST00000523207.1	+	3	2973	c.2385T>A	c.(2383-2385)ccT>ccA	p.P795P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	795					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AACTGTTCCCTTTCTCTTCAA	0.552													A	73849975	T	A	73849975	2	1	364	1	0	0	0	0	0	0	0	1	8071	1596	56	5		5	KCNB2	8	73849975	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	884989	73849975	72514047	6820	30322											
TERF1	7013	broad.mit.edu	37	chr8	73937122	73937122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattccttttttcaacaCttcagctacaaccacatgat	11	16	2	12	0	3	1	3	1	0	0	4	1	4	1	2	0	4	1	2	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:73937122C>A	ENST00000276602.6	+	5	713	c.690C>A	c.(688-690)caC>caA	p.H230Q	TERF1_ENST00000276603.5_Missense_Mutation_p.H230Q	NM_003218.3	NP_003209.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	230	TRFH dimerization.				age-dependent telomere shortening|cell division|G2/M transition of mitotic cell cycle|induction of apoptosis|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of telomere maintenance via semi-conservative replication|negative regulation of telomere maintenance via telomerase|positive regulation of microtubule polymerization|positive regulation of mitosis|positive regulation of mitotic cell cycle|protein homooligomerization|regulation of transcription, DNA-dependent|telomere maintenance via telomerase|telomere maintenance via telomere shortening	chromosome, telomeric region|cytoplasm|nuclear telomere cap complex|nucleoplasm|nucleus|spindle	caspase activator activity|DNA bending activity|double-stranded telomeric DNA binding|identical protein binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|telomerase inhibitor activity|telomeric DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			TTTTTCAACACTTCAGCTACA	0.284													A	73937122	C	A	73937122	3	1	364	1	0	0	0	0	1	0	0	0	15861	564	20	4	708	4	TERF1	8	73937122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87147	73937122	72426900	6821	30323											
RPL7	6129	broad.mit.edu	37	chr8	74203795	74203795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatagaacctaccaagagatCgagcaatcaaagcgttatct	17	8	7	9	2	2	2	1	0	1	2	3	4	2	2	2	0	4	2	2	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74203795C>T	ENST00000396467.1	-	5	548	c.410G>A	c.(409-411)cGa>cAa	p.R137Q	RPL7_ENST00000352983.2_Missense_Mutation_p.R177Q|RPL7_ENST00000396466.1_Missense_Mutation_p.R137Q|RPL7_ENST00000396465.1_Missense_Mutation_p.R137Q	NM_000971.3	NP_000962.2	P18124	RL7_HUMAN	ribosomal protein L7	177					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|mRNA binding|protein homodimerization activity|structural constituent of ribosome			breast(1)|kidney(1)|large_intestine(2)|lung(1)	5	Breast(64;0.0954)		Epithelial(68;0.0193)|all cancers(69;0.0766)|BRCA - Breast invasive adenocarcinoma(89;0.134)			ACCAAGAGATCGAGCAATCAA	0.388													T	74203795	C	T	74203795	3	4	364	1	0	0	0	0	1	0	0	0	13690	884	31	1	224	1	RPL7	8	74203795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266673	74203795	72160227	6822	30324											
STAU2	27067	broad.mit.edu	37	chr8	74529527	74529527	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgcagcagcaccacacCtgaggagatctttctggaat	12	8	9	12	0	2	2	0	1	2	1	2	4	2	3	2	2	3	3	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74529527C>A	ENST00000355780.5	-	6	692	c.474G>T	c.(472-474)caG>caT	p.Q158H	STAU2_ENST00000521210.1_Splice_Site_p.Q86H|STAU2_ENST00000523558.1_Splice_Site_p.Q18H|STAU2_ENST00000522695.1_Splice_Site_p.Q158H|STAU2_ENST00000524300.1_Splice_Site_p.Q190H|STAU2_ENST00000521451.1_5'UTR|STAU2_ENST00000517542.1_Splice_Site_p.Q152H|STAU2_ENST00000521727.1_Splice_Site_p.Q170H|STAU2_ENST00000519961.1_Splice_Site_p.Q190H|STAU2_ENST00000522509.1_Splice_Site_p.Q158H	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2	190	DRBM 2.				transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			AGCACCACACCTGAGGAGATC	0.413													A	74529527	C	A	74529527	5	1	364	1	0	0	0	0	0	0	1	0	15369	695	24	4	1302	4	STAU2	8	74529527	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325732	74529527	71834495	6823	30325											
STAU2	27067	broad.mit.edu	37	chr8	74650573	74650573	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactgctgtatccctcaCggctccaaaaactggaaaac	14	7	6	14	1	1	0	1	0	0	0	3	1	3	1	3	2	4	3	3	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:74650573C>T	ENST00000355780.5	-	0	182				STAU2_ENST00000521210.1_De_novo_Start_InFrame|STAU2_ENST00000523558.1_Intron|STAU2_ENST00000524300.1_De_novo_Start_InFrame|STAU2_ENST00000522962.1_5'UTR|STAU2_ENST00000521451.1_Intron|STAU2_ENST00000521419.1_De_novo_Start_OutOfFrame|RP11-463D19.2_ENST00000358757.5_3'UTR|STAU2_ENST00000517542.1_Intron|STAU2_ENST00000524104.1_De_novo_Start_OutOfFrame|STAU2_ENST00000521727.1_Intron|STAU2_ENST00000519961.1_De_novo_Start_InFrame|STAU2_ENST00000522509.1_De_novo_Start_OutOfFrame	NM_014393.2	NP_055208.2	Q9NUL3	STAU2_HUMAN	staufen double-stranded RNA binding protein 2						transport	endoplasmic reticulum|microtubule|nucleolus	double-stranded RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)	19	Breast(64;0.0138)		Epithelial(68;0.026)|BRCA - Breast invasive adenocarcinoma(89;0.0483)|all cancers(69;0.0972)			GTATCCCTCACGGCTCCAAAA	0.363													T	74650573	C	T	74650573	1	4	364	1	0	0	0	0	0	0	0	0	15369	551	19	1		1	STAU2	8	74650573	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121046	74650573	71713449	6824	30326											
JPH1	56704	broad.mit.edu	37	chr8	75227367	75227367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaacgccgaagccgttgcGcttgtcgttcttccactcgc	5	11	10	15	6	1	0	0	0	1	0	4	1	2	0	3	0	3	4	3	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75227367G>A	ENST00000342232.4	-	2	908	c.868C>T	c.(868-870)Cgc>Tgc	p.R290C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	290					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			AAGCCGTTGCGCTTGTCGTTC	0.537													A	75227367	G	A	75227367	3	1	364	1	0	0	0	0	1	0	0	0	8018	1087	38	1	1133	1	JPH1	8	75227367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	576794	75227367	71136655	6825	30327											
CRISPLD1	83690	broad.mit.edu	37	chr8	75929589	75929589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagagctgcaattcattatgGtataatagacaatgatggtg	14	13	10	4	0	1	3	1	1	0	2	1	3	1	3	0	2	2	3	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:75929589G>T	ENST00000262207.4	+	10	1499	c.1031G>T	c.(1030-1032)gGt>gTt	p.G344V	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.G158V|CRISPLD1_ENST00000523524.1_Missense_Mutation_p.G156V	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	344	LCCL 1.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			ATTCATTATGGTATAATAGAC	0.343													T	75929589	G	T	75929589	3	4	364	1	0	0	0	0	1	0	0	0	3913	1261	44	4	1065	4	CRISPLD1	8	75929589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	702222	75929589	70434433	6826	30328											
HNF4G	3174	broad.mit.edu	37	chr8	76471094	76471094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgaggttccaagtgcagatCggtttggaggactacatcaa	12	10	12	7	1	1	2	1	1	0	1	3	4	2	4	1	4	2	3	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76471094C>T	ENST00000396423.2	+	8	1039	c.915C>T	c.(913-915)atC>atT	p.I305I	HNF4G_ENST00000354370.1_Silent_p.I268I	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	268					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGTGCAGATCGGTTTGGAGG	0.468													T	76471094	C	T	76471094	2	4	364	1	0	0	0	0	0	0	0	1	7309	874	31	1		1	HNF4G	8	76471094	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541505	76471094	69892928	6827	30329											
HNF4G	3174	broad.mit.edu	37	chr8	76472629	76472629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaatgcatccacatttgTctcaagacccattaactgga	13	11	5	12	0	1	1	1	0	1	1	4	2	3	2	3	1	2	1	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:76472629T>C	ENST00000396423.2	+	9	1268	c.1144T>C	c.(1144-1146)Tct>Cct	p.S382P	HNF4G_ENST00000354370.1_Missense_Mutation_p.S345P	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	345					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			TCCACATTTGTCTCAAGACCC	0.393													C	76472629	T	C	76472629	3	2	364	1	0	0	0	0	1	0	0	0	7309	1667	58	3	1178	3	HNF4G	8	76472629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1535	76472629	69891393	6828	30330											
ZFHX4	79776	broad.mit.edu	37	chr8	77763428	77763428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatcatgcaattcgggctgCgacaatgtgtaacctctgcc	9	11	10	11	2	2	0	1	0	1	0	3	1	2	0	2	1	4	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77763428C>T	ENST00000521891.2	+	10	4719	c.4271C>T	c.(4270-4272)gCg>gTg	p.A1424V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.A1398V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.A1379V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.A1379V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			ATTCGGGCTGCGACAATGTGT	0.458										HNSCC(33;0.089)			T	77763428	C	T	77763428	3	4	364	1	0	0	0	0	1	0	0	0	17736	768	27	1	4305	1	ZFHX4	8	77763428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1290799	77763428	68600594	6829	30331											
ZFHX4	79776	broad.mit.edu	37	chr8	77765105	77765105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctagaaaaatttgctcGtcaatacagggaggcctatg	13	9	11	8	2	1	1	1	0	0	1	2	2	1	2	1	2	3	2	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765105G>A	ENST00000521891.2	+	10	6396	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	ZFHX4_ENST00000518282.1_Missense_Mutation_p.R1957H|ZFHX4_ENST00000455469.2_Missense_Mutation_p.R1938H|ZFHX4_ENST00000050961.6_Missense_Mutation_p.R1938H	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1938	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R1983H(2)		NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAATTTGCTCGTCAATACAGG	0.458										HNSCC(33;0.089)			A	77765105	G	A	77765105	3	1	364	1	0	0	0	0	1	0	0	0	17736	1145	40	1	5982	1	ZFHX4	8	77765105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1677	77765105	68598917	6830	30332											
ZFHX4	79776	broad.mit.edu	37	chr8	77765762	77765762	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaaccctcctataacggTtttagaagatatcagaattg	14	12	7	8	1	1	3	1	0	0	3	2	3	2	3	2	1	2	2	2	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77765762T>C	ENST00000521891.2	+	10	7053	c.6605T>C	c.(6604-6606)gTt>gCt	p.V2202A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.V2176A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.V2157A|ZFHX4_ENST00000050961.6_Missense_Mutation_p.V2157A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2157						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CCTATAACGGTTTTAGAAGAT	0.358										HNSCC(33;0.089)			C	77765762	T	C	77765762	3	2	364	1	0	0	0	0	1	0	0	0	17736	1725	60	3	6639	3	ZFHX4	8	77765762	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	657	77765762	68598260	6831	30333											
ZFHX4	79776	broad.mit.edu	37	chr8	77766211	77766211	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaagccaaacagaagacTccatggatgccactgatcaa	17	6	8	10	0	1	4	1	2	0	2	2	5	2	5	3	1	3	0	3	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766211T>A	ENST00000521891.2	+	10	7502	c.7054T>A	c.(7054-7056)Tcc>Acc	p.S2352T	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S2326T|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S2307T|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S2307T	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2307	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AACAGAAGACTCCATGGATGC	0.473										HNSCC(33;0.089)			A	77766211	T	A	77766211	3	1	364	1	0	0	0	0	1	0	0	0	17736	1551	54	5	7088	5	ZFHX4	8	77766211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	449	77766211	68597811	6832	30334											
ZFHX4	79776	broad.mit.edu	37	chr8	77766653	77766653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataccaatgtgatcagtgtaCagttgccttcccaactctgg	10	12	8	11	0	2	1	1	1	1	0	3	1	3	1	3	1	4	2	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77766653C>A	ENST00000521891.2	+	10	7944	c.7496C>A	c.(7495-7497)aCa>aAa	p.T2499K	ZFHX4_ENST00000518282.1_Missense_Mutation_p.T2473K|ZFHX4_ENST00000455469.2_Missense_Mutation_p.T2454K|ZFHX4_ENST00000050961.6_Missense_Mutation_p.T2454K	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2454						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GATCAGTGTACAGTTGCCTTC	0.493										HNSCC(33;0.089)			A	77766653	C	A	77766653	3	1	364	1	0	0	0	0	1	0	0	0	17736	478	17	4	7530	4	ZFHX4	8	77766653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	442	77766653	68597369	6833	30335											
ZFHX4	79776	broad.mit.edu	37	chr8	77767503	77767503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgttctgaggatgtagaGaatttaaatgcccctcctgc	10	12	11	8	0	1	2	0	1	1	1	2	5	2	3	3	1	2	2	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:77767503G>T	ENST00000521891.2	+	10	8794	c.8346G>T	c.(8344-8346)gaG>gaT	p.E2782D	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E2756D|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E2737D|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E2737D	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	2737						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGGATGTAGAGAATTTAAATG	0.428										HNSCC(33;0.089)			T	77767503	G	T	77767503	3	4	364	1	0	0	0	0	1	0	0	0	17736	933	33	4	8380	4	ZFHX4	8	77767503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	850	77767503	68596519	6834	30336											
MRPS28	28957	broad.mit.edu	37	chr8	80831363	80831363	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatagccgcaaccggaccCtggttcctttctggtatttc	7	13	8	13	2	1	0	0	0	1	0	3	1	2	1	4	3	2	3	4	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80831363C>A	ENST00000276585.4	-	3	438	c.416G>T	c.(415-417)aGg>aTg	p.R139M	MRPS28_ENST00000521434.1_Missense_Mutation_p.R77M|MRPS28_ENST00000521605.1_Missense_Mutation_p.Q78H	NM_014018.2	NP_054737.1	Q9Y2Q9	RT28_HUMAN	mitochondrial ribosomal protein S28	139						mitochondrial small ribosomal subunit				endometrium(1)|large_intestine(1)|lung(2)|skin(1)	5	Lung NSC(7;1.86e-06)|all_lung(9;6.91e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00769)|Epithelial(68;0.0208)|all cancers(69;0.0805)			CAACCGGACCCTGGTTCCTTT	0.358													A	80831363	C	A	80831363	3	1	364	1	0	0	0	0	1	0	0	0	9915	681	24	4	151	4	MRPS28	8	80831363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3063860	80831363	65532659	6835	30337											
TPD52	7163	broad.mit.edu	37	chr8	80950356	80950356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggtaggaatctcacaGgctctcctgtgtcttttctg	9	13	9	10	0	4	0	1	0	4	0	6	1	4	1	1	3	0	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:80950356G>T	ENST00000379096.5	-	6	664	c.550C>A	c.(550-552)Ctg>Atg	p.L184M	TPD52_ENST00000537855.1_Intron|TPD52_ENST00000379097.3_Missense_Mutation_p.L224M|TPD52_ENST00000518937.1_Missense_Mutation_p.L207M|TPD52_ENST00000523395.1_5'UTR|TPD52_ENST00000517427.1_Missense_Mutation_p.L233M|TPD52_ENST00000448733.2_Missense_Mutation_p.L238M|TPD52_ENST00000519303.2_Missense_Mutation_p.L60M|TPD52_ENST00000520527.1_Missense_Mutation_p.L247M	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	224					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GAATCTCACAGGCTCTCCTGT	0.498													T	80950356	G	T	80950356	3	4	364	1	0	0	0	0	1	0	0	0	16498	991	35	4	8	4	TPD52	8	80950356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118993	80950356	65413666	6836	30338											
ZBTB10	65986	broad.mit.edu	37	chr8	81412269	81412269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagtttttgggcaacaCggaatcttaccaatttggca	10	13	9	9	1	1	0	0	0	1	0	1	1	1	1	2	3	3	3	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81412269C>T	ENST00000430430.1	+	3	2292	c.1513C>T	c.(1513-1515)Cgg>Tgg	p.R505W	ZBTB10_ENST00000455036.3_Missense_Mutation_p.R505W|ZBTB10_ENST00000379091.4_Missense_Mutation_p.R213W|ZBTB10_ENST00000426744.2_Missense_Mutation_p.R505W	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	505					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			TTGGGCAACACGGAATCTTAC	0.373													T	81412269	C	T	81412269	3	4	364	1	0	0	0	0	1	0	0	0	17624	527	19	1	1519	1	ZBTB10	8	81412269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	461913	81412269	64951753	6837	30339											
ZNF704	619279	broad.mit.edu	37	chr8	81733613	81733613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaatgttcccttaccttgCtggaggaacatcaatgttgg	9	15	9	8	0	1	0	1	0	0	0	2	2	2	2	2	3	3	3	2	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81733613C>T	ENST00000327835.3	-	2	448	c.217G>A	c.(217-219)Gca>Aca	p.A73T		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	73						intracellular	zinc ion binding			lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			CCTTACCTTGCTGGAGGAACA	0.448													T	81733613	C	T	81733613	3	4	364	1	0	0	0	0	1	0	0	0	18208	797	28	2	1053	2	ZNF704	8	81733613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	321344	81733613	64630409	6838	30340											
PAG1	55824	broad.mit.edu	37	chr8	81899628	81899628	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccattggtgagtgccccaTtctgctcactgctggcagga	6	10	11	14	0	2	1	1	1	1	0	2	2	2	2	4	3	3	3	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:81899628T>G	ENST00000220597.4	-	6	961	c.251A>C	c.(250-252)aAt>aCt	p.N84T		NM_018440.3	NP_060910.3	Q9NWQ8	PAG1_HUMAN	phosphoprotein associated with glycosphingolipid microdomains 1	84					epidermal growth factor receptor signaling pathway|intracellular signal transduction|T cell receptor signaling pathway	integral to membrane|intracellular|membrane raft|plasma membrane	SH2 domain binding|SH3/SH2 adaptor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(2)	11	Lung NSC(7;5.76e-06)|all_lung(9;2e-05)		BRCA - Breast invasive adenocarcinoma(6;0.0567)|Epithelial(68;0.0634)|all cancers(69;0.197)			GAGTGCCCCATTCTGCTCACT	0.463													G	81899628	T	G	81899628	3	3	364	1	0	0	0	0	1	0	0	0	11464	1493	52	5	1063	5	PAG1	8	81899628	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	166015	81899628	64464394	6839	30341											
PMP2	5375	broad.mit.edu	37	chr8	82359586	82359586	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaaagttctcactagaGacaagtttccaggtgcccag	11	10	9	11	1	2	1	2	0	1	1	5	2	3	1	2	1	1	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82359586G>T	ENST00000256103.2	-	1	172	c.36C>A	c.(34-36)gtC>gtA	p.V12V	RP11-157I4.4_ENST00000524085.2_RNA|PMP2_ENST00000519260.1_Silent_p.V12V	NM_002677.3	NP_002668.1	P02689	MYP2_HUMAN	peripheral myelin protein 2	12						cytoplasm	cholesterol binding|fatty acid binding|transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)	6			Epithelial(68;0.186)			TCTCACTAGAGACAAGTTTCC	0.408													T	82359586	G	T	82359586	2	4	364	1	0	0	0	0	0	0	0	1	12215	929	33	4		4	PMP2	8	82359586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	459958	82359586	64004436	6840	30342											
SLC10A5	347051	broad.mit.edu	37	chr8	82606128	82606128	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttacaaacaggaagaggCagcgtacaaactttagcaaa	17	8	9	7	1	0	1	0	0	0	1	0	2	0	2	0	2	6	4	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82606128C>G	ENST00000518568.1	-	1	2281	c.1080G>C	c.(1078-1080)ctG>ctC	p.L360L		NM_001010893.2	NP_001010893.1	Q5PT55	NTCP5_HUMAN	solute carrier family 10, member 5	360						integral to membrane	bile acid:sodium symporter activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)	15						CAGGAAGAGGCAGCGTACAAA	0.408													G	82606128	C	G	82606128	2	3	364	1	0	0	0	0	0	0	0	1	14471	697	25	4		4	SLC10A5	8	82606128	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246542	82606128	63757894	6841	30343											
ZFAND1	79752	broad.mit.edu	37	chr8	82615065	82615065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagtatgatccaagggtaaGgcttctcctgaagtaatgtg	13	11	11	6	0	1	2	0	2	1	0	3	2	2	2	2	2	0	4	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:82615065G>T	ENST00000521895.1	-	7	602	c.343C>A	c.(343-345)Ctt>Att	p.L115I	ZFAND1_ENST00000523096.1_Silent_p.A217A|ZFAND1_ENST00000522520.1_Silent_p.A117A|ZFAND1_ENST00000519338.1_5'UTR|ZFAND1_ENST00000220669.5_Silent_p.A224A|ZFAND1_ENST00000521287.1_Silent_p.A117A			Q8TCF1	ZFAN1_HUMAN	zinc finger, AN1-type domain 1	0							zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13						CCAAGGGTAAGGCTTCTCCTG	0.358													T	82615065	G	T	82615065	3	4	364	1	0	0	0	0	1	0	0	0	17727	987	35	4	138	4	ZFAND1	8	82615065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8937	82615065	63748957	6842	30344											
RALYL	138046	broad.mit.edu	37	chr8	85441713	85441713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaatagttggatgttccGttcacaaaggttatgcattt	13	14	9	5	1	1	0	1	0	0	0	2	2	2	1	1	2	1	5	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:85441713G>A	ENST00000521268.1	+	2	1262	c.157G>A	c.(157-159)Gtt>Att	p.V53I	RALYL_ENST00000517638.1_Missense_Mutation_p.V66I|RALYL_ENST00000521695.1_Missense_Mutation_p.V53I|RALYL_ENST00000522455.1_Missense_Mutation_p.V53I|RALYL_ENST00000518566.1_Missense_Mutation_p.V53I	NM_173848.5	NP_776247.3	Q86SE5	RALYL_HUMAN	RALY RNA binding protein-like	53	RRM.						identical protein binding|nucleotide binding|RNA binding	p.V53I(3)		endometrium(2)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)	24						TGGATGTTCCGTTCACAAAGG	0.438													A	85441713	G	A	85441713	3	1	364	1	0	0	0	0	1	0	0	0	13108	1145	40	1	202	1	RALYL	8	85441713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2826648	85441713	60922309	6843	30345											
LRRCC1	85444	broad.mit.edu	37	chr8	86021909	86021909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccaagatcgaagccattGatcatatttggaatttacaa	14	13	6	8	1	2	2	1	1	1	1	4	4	2	3	2	1	2	0	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86021909G>A	ENST00000414626.2	+	1	1013	c.124G>A	c.(124-126)Gat>Aat	p.D42N	LRRCC1_ENST00000360375.3_Missense_Mutation_p.D62N			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	62					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						CGAAGCCATTGATCATATTTG	0.308													A	86021909	G	A	86021909	3	1	364	1	0	0	0	0	1	0	0	0	9096	1290	45	2	190	2	LRRCC1	8	86021909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	580196	86021909	60342113	6844	30346											
LRRCC1	85444	broad.mit.edu	37	chr8	86035730	86035730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacttctgaaagtgactatgGaaacagaaaagaatgcaata	20	8	8	5	0	1	4	0	2	1	2	1	5	1	5	0	1	3	1	0	1	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86035730G>A	ENST00000414626.2	+	6	1842	c.953G>A	c.(952-954)gGa>gAa	p.G318E	LRRCC1_ENST00000360375.3_Missense_Mutation_p.G338E			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	338					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						AGTGACTATGGAAACAGAAAA	0.328													A	86035730	G	A	86035730	3	1	364	1	0	0	0	0	1	0	0	0	9096	1174	41	2	1039	2	LRRCC1	8	86035730	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13821	86035730	60328292	6845	30347											
LRRCC1	85444	broad.mit.edu	37	chr8	86044046	86044046	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgacttccaggatgcCttagctaaagaaatagccaa	14	9	9	9	0	0	2	0	1	0	1	1	4	1	3	3	1	4	2	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86044046C>A	ENST00000414626.2	+	11	2647	c.1758C>A	c.(1756-1758)gcC>gcA	p.A586A	LRRCC1_ENST00000360375.3_Silent_p.A606A			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	606					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						TCCAGGATGCCTTAGCTAAAG	0.358													A	86044046	C	A	86044046	2	1	364	1	0	0	0	0	0	0	0	1	9096	668	24	4		4	LRRCC1	8	86044046	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8316	86044046	60319976	6846	30348											
E2F5	1875	broad.mit.edu	37	chr8	86124439	86124439	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagttaatgtcttctgacGgtaagtaggttaaaatttta	13	16	9	3	1	2	2	0	2	2	0	2	2	2	2	0	2	0	4	0	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86124439G>A	ENST00000418930.2	+	7	1124	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000517476.1_Splice_Site_p.V150M|E2F5_ENST00000416274.2_Splice_Site_p.V311M|E2F5_ENST00000521429.1_Splice_Site_p.V138M|E2F5_ENST00000256117.5_Splice_Site_p.V312M			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	311	Transactivation (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						GTCTTCTGACGGTAAGTAGGT	0.294													A	86124439	G	A	86124439	5	1	364	1	0	0	0	0	0	0	1	0	4909	1130	39	1	957	1	E2F5	8	86124439	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80393	86124439	60239583	6847	30349											
C8orf59	401466	broad.mit.edu	37	chr8	86129663	86129663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctttgtttttagccttaaaGtttttttggctggctatgtg	5	21	10	5	0	0	0	0	0	0	0	0	0	0	0	1	2	1	5	1	2	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86129663G>T	ENST00000417663.2	-	2	137	c.66C>A	c.(64-66)aaC>aaA	p.N22K	C8orf59_ENST00000321777.5_Missense_Mutation_p.N22K|C8orf59_ENST00000518091.1_Missense_Mutation_p.N22K|C8orf59_ENST00000545322.1_Missense_Mutation_p.N22K|C8orf59_ENST00000458398.2_Missense_Mutation_p.N22K|C8orf59_ENST00000421308.2_Missense_Mutation_p.N22K|C8orf59_ENST00000431163.2_Missense_Mutation_p.N22K|C8orf59_ENST00000518562.1_Missense_Mutation_p.N22K|C8orf59_ENST00000524353.1_Missense_Mutation_p.N22K	NM_001099670.1|NM_001099671.1|NM_001099672.1|NM_001099673.1	NP_001093140.1|NP_001093141.1|NP_001093142.1|NP_001093143	Q8N0T1	CH059_HUMAN	chromosome 8 open reading frame 59	22																	TAGCCTTAAAGTTTTTTTGGC	0.338													T	86129663	G	T	86129663	3	4	364	1	0	0	0	0	1	0	0	0	2460	1020	36	4	242	4	C8orf59	8	86129663	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5224	86129663	60234359	6848	30350											
CA13	377677	broad.mit.edu	37	chr8	86158064	86158064	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccgagggaccatgtcgAggctcagctggggataccgc	8	5	14	14	3	1	0	1	0	0	0	2	4	1	2	4	4	2	2	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:86158064A>T	ENST00000321764.3	+	1	309	c.7A>T	c.(7-9)Agg>Tgg	p.R3W	CA13_ENST00000517298.1_Intron	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	3					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						GACCATGTCGAGGCTCAGCTG	0.662													T	86158064	A	T	86158064	3	4	364	1	0	0	0	0	1	0	0	0	2540	295	11	5	9	5	CA13	8	86158064	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28401	86158064	60205958	6849	30351											
PSKH2	85481	broad.mit.edu	37	chr8	87076754	87076754	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctctaccttccctctCtctggtttccatcactttta	4	18	3	16	1	4	0	1	0	3	0	8	0	6	0	3	1	1	2	3	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87076754C>A	ENST00000276616.2	-	2	366	c.292G>T	c.(292-294)Gag>Tag	p.E98*	PSKH2_ENST00000517981.1_5'UTR	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	98	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			CCTTCCCTCTCTCTGGTTTCC	0.502													A	87076754	C	A	87076754	4	1	364	1	0	0	0	0	0	1	0	0	12750	922	32	4	871	4	PSKH2	8	87076754	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	918690	87076754	59287268	6850	30352											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87111268	87111268	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacctggagggcctggttCgaggatgcaaggccagcctc	7	7	15	12	1	0	0	0	0	0	0	2	3	0	2	4	5	3	3	4	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87111268C>T	ENST00000285393.3	+	1	203	c.61C>T	c.(61-63)Cga>Tga	p.R21*	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	21					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						GGGCCTGGTTCGAGGATGCAA	0.532													T	87111268	C	T	87111268	4	4	364	1	0	0	0	0	0	1	0	0	1179	876	31	1	63	1	ATP6V0D2	8	87111268	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34514	87111268	59252754	6851	30353											
ATP6V0D2	245972	broad.mit.edu	37	chr8	87165057	87165057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaggtacaaatgaatGtgctggcattcaacagacag	13	10	9	9	0	2	2	2	1	0	1	3	2	3	2	1	2	3	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87165057G>A	ENST00000285393.3	+	8	1046	c.904G>A	c.(904-906)Gtg>Atg	p.V302M	CTD-3118D11.2_ENST00000522679.1_RNA	NM_152565.1	NP_689778.1	Q8N8Y2	VA0D2_HUMAN	ATPase, H+ transporting, lysosomal 38kDa, V0 subunit d2	302					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	apical plasma membrane|endosome membrane|proton-transporting V-type ATPase, V0 domain|vacuolar proton-transporting V-type ATPase complex	hydrogen ion transmembrane transporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|prostate(1)	27						ACAAATGAATGTGCTGGCATT	0.353													A	87165057	G	A	87165057	3	1	364	1	0	0	0	0	1	0	0	0	1179	1377	48	2	934	2	ATP6V0D2	8	87165057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53789	87165057	59198965	6852	30354											
SLC7A13	157724	broad.mit.edu	37	chr8	87242328	87242328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaaagagttgatgtcatgGccagtatggcacagccagcc	12	7	12	10	0	1	2	1	1	0	1	1	2	1	2	3	2	3	4	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87242328G>A	ENST00000297524.3	-	1	282	c.179C>T	c.(178-180)gCc>gTc	p.A60V	SLC7A13_ENST00000419776.2_Missense_Mutation_p.A60V|SLC7A13_ENST00000520624.1_Intron	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	60						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TGATGTCATGGCCAGTATGGC	0.483													A	87242328	G	A	87242328	3	1	364	1	0	0	0	0	1	0	0	0	14789	1203	42	2	1249	2	SLC7A13	8	87242328	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77271	87242328	59121694	6853	30355											
WWP1	11059	broad.mit.edu	37	chr8	87447713	87447713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaaattgcttatgaacGcggctttaggtggaagcttg	10	12	11	8	2	0	1	0	1	0	0	1	2	1	2	1	3	3	3	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87447713G>A	ENST00000517970.1	+	15	1941	c.1634G>A	c.(1633-1635)cGc>cAc	p.R545H	WWP1_ENST00000265428.4_Missense_Mutation_p.R545H|WWP1_ENST00000341922.2_Missense_Mutation_p.R415H|WWP1_ENST00000349423.2_Missense_Mutation_p.R327H	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	545					central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						GCTTATGAACGCGGCTTTAGG	0.299													A	87447713	G	A	87447713	3	1	364	1	0	0	0	0	1	0	0	0	17517	1087	38	1	1684	1	WWP1	8	87447713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205385	87447713	58916309	6854	30356											
WWP1	11059	broad.mit.edu	37	chr8	87474066	87474066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacttggttaccaagaaGccatacatggtaagttcaag	15	9	9	8	0	1	2	1	0	0	2	1	2	1	2	2	2	3	3	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87474066G>A	ENST00000517970.1	+	24	2967	c.2660G>A	c.(2659-2661)aGc>aAc	p.S887N	WWP1_ENST00000265428.4_Missense_Mutation_p.S887N|WWP1_ENST00000341922.2_Missense_Mutation_p.S757N|WWP1_ENST00000349423.2_Missense_Mutation_p.S669N	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	887	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						TTACCAAGAAGCCATACATGG	0.348													A	87474066	G	A	87474066	3	1	364	1	0	0	0	0	1	0	0	0	17517	971	34	2	2746	2	WWP1	8	87474066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26353	87474066	58889956	6855	30357											
WWP1	11059	broad.mit.edu	37	chr8	87479030	87479030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttctgttcagttttaatCgcttggatctaccaccatat	8	18	6	9	1	3	0	1	0	2	0	4	1	3	1	2	1	1	4	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87479030C>T	ENST00000517970.1	+	25	2984	c.2677C>T	c.(2677-2679)Cgc>Tgc	p.R893C	WWP1_ENST00000265428.4_Missense_Mutation_p.R893C|WWP1_ENST00000341922.2_Missense_Mutation_p.R763C|WWP1_ENST00000349423.2_Missense_Mutation_p.R675C	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	893	HECT.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						CAGTTTTAATCGCTTGGATCT	0.308													T	87479030	C	T	87479030	3	4	364	1	0	0	0	0	1	0	0	0	17517	884	31	1	2767	1	WWP1	8	87479030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4964	87479030	58884992	6856	30358											
CNGB3	54714	broad.mit.edu	37	chr8	87656038	87656038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attccttcatagtttgaagcCcagtaataaacacaggcatt	14	12	6	9	0	1	1	1	1	0	0	2	1	2	1	2	1	2	3	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:87656038C>A	ENST00000320005.5	-	10	1166	c.1119G>T	c.(1117-1119)tgG>tgT	p.W373C		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	373					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						AGTTTGAAGCCCAGTAATAAA	0.353													A	87656038	C	A	87656038	3	1	364	1	0	0	0	0	1	0	0	0	3632	624	22	4	1346	4	CNGB3	8	87656038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177008	87656038	58707984	6857	30359											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885128	88885128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaatgtcgttctccgaggCggggtatggggagggtatgg	6	9	21	5	3	1	0	0	0	1	0	3	3	1	2	1	8	0	3	1	8	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885128C>T	ENST00000319675.3	-	1	1168	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	358										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						TTCTCCGAGGCGGGGTATGGG	0.622													T	88885128	C	T	88885128	3	4	364	1	0	0	0	0	1	0	0	0	4306	768	27	1	119	1	DCAF4L2	8	88885128	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1229090	88885128	57478894	6858	30360											
DCAF4L2	138009	broad.mit.edu	37	chr8	88885738	88885738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggagcagcacggcacaGcttggagtatctgcaagtcc	9	7	14	11	1	1	0	0	0	1	0	2	2	2	2	1	3	4	7	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:88885738G>T	ENST00000319675.3	-	1	558	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	154										breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						GCACGGCACAGCTTGGAGTAT	0.552													T	88885738	G	T	88885738	3	4	364	1	0	0	0	0	1	0	0	0	4306	962	34	4	729	4	DCAF4L2	8	88885738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	610	88885738	57478284	6859	30361											
MMP16	4325	broad.mit.edu	37	chr8	89053797	89053797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaggcataaggccaaGatgcagggaatgacaatagc	17	4	13	7	0	0	2	0	1	0	1	0	4	0	4	1	4	2	2	1	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:89053797G>T	ENST00000286614.6	-	10	1997	c.1716C>A	c.(1714-1716)atC>atA	p.I572I		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	572					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATAAGGCCAAGATGCAGGGAA	0.458													T	89053797	G	T	89053797	2	4	364	1	0	0	0	0	0	0	0	1	9730	932	33	4		4	MMP16	8	89053797	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168059	89053797	57310225	6860	30362											
NBN	4683	broad.mit.edu	37	chr8	90960053	90960053	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaataaaacgtttctcacaGatatttctttagctgaccat	13	16	4	8	1	2	2	1	1	2	1	3	2	2	2	1	0	2	2	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90960053G>A	ENST00000265433.3	-	12	2067	c.1913C>T	c.(1912-1914)tCt>tTt	p.S638F	NBN_ENST00000409330.1_Splice_Site_p.S556F	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	638					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			GTTTCTCACAGATATTTCTTT	0.303								Homologous recombination					A	90960053	G	A	90960053	5	1	364	1	0	0	0	0	0	0	1	0	10267	956	33	2	371	2	NBN	8	90960053	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1906256	90960053	55403969	6861	30363											
NBN	4683	broad.mit.edu	37	chr8	90993001	90993001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataccatgacaaggtgagtGcattcttctgtccaattgtt	10	14	9	8	0	2	2	0	2	2	0	3	3	3	2	2	1	2	2	2	1	3	5	rs137857529	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:90993001G>A	ENST00000265433.3	-	4	595	c.441C>T	c.(439-441)tgC>tgT	p.C147C	NBN_ENST00000409330.1_Silent_p.C65C	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	147	BRCT.				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			CAAGGTGAGTGCATTCTTCTG	0.338								Homologous recombination					A	90993001	G	A	90993001	2	1	364	1	0	0	0	0	0	0	0	1	10267	1311	46	2		2	NBN	8	90993001	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32948	90993001	55371021	6862	30364											
DECR1	1666	broad.mit.edu	37	chr8	91033202	91033202	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agactttctcctaatgcttgGaaaaccataactgacatagt	14	12	6	9	0	1	2	0	1	1	1	2	3	1	3	2	1	3	1	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91033202G>A	ENST00000522161.1	+	7	1139	c.456G>A	c.(454-456)tgG>tgA	p.W152*	DECR1_ENST00000519007.1_3'UTR|DECR1_ENST00000220764.2_Nonsense_Mutation_p.W161*			Q16698	DECR_HUMAN	2,4-dienoyl CoA reductase 1, mitochondrial	161					fatty acid beta-oxidation|protein homotetramerization	mitochondrial matrix|nucleus|plasma membrane	2,4-dienoyl-CoA reductase (NADPH) activity|NADPH binding|oxidoreductase activity, acting on NADH or NADPH			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	15			BRCA - Breast invasive adenocarcinoma(11;0.00953)			CTAATGCTTGGAAAACCATAA	0.333													A	91033202	G	A	91033202	4	1	364	1	0	0	0	0	0	1	0	0	4416	1183	41	2	501	2	DECR1	8	91033202	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40201	91033202	55330820	6863	30365											
CALB1	793	broad.mit.edu	37	chr8	91072448	91072448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaagatccgttcggtacaGcttccctccatccgacaaag	11	8	8	14	3	0	1	0	0	0	1	5	2	4	1	4	1	3	4	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91072448G>A	ENST00000265431.3	-	11	920	c.739C>T	c.(739-741)Ctg>Ttg	p.L247L	CALB1_ENST00000518457.1_Silent_p.L190L	NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa	247						nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			GTTCGGTACAGCTTCCCTCCA	0.393													A	91072448	G	A	91072448	2	1	364	1	0	0	0	0	0	0	0	1	2599	962	34	2		2	CALB1	8	91072448	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39246	91072448	55291574	6864	30366											
CALB1	793	broad.mit.edu	37	chr8	91094331	91094331	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttccaggtaaccacttcCtgcaaagacaaagaggcacc	13	7	7	14	0	0	2	0	0	0	2	3	2	3	2	5	2	2	3	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:91094331C>A	ENST00000265431.3	-	2	261		c.e2-1			NM_004929.2	NP_004920.1	P05937	CALB1_HUMAN	calbindin 1, 28kDa							nucleus	calcium ion binding|vitamin D binding			breast(1)|kidney(1)|lung(8)|pancreas(1)	11			BRCA - Breast invasive adenocarcinoma(11;0.00953)			TAACCACTTCCTGCAAAGACA	0.502													A	91094331	C	A	91094331	5	1	364	1	0	0	0	0	0	0	1	0	2599	695	24	4	746	4	CALB1	8	91094331	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21883	91094331	55269691	6865	30367											
OTUD6B	51633	broad.mit.edu	37	chr8	92090721	92090721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacagttagaaattaaacaGattccatctgatggccactg	15	10	8	8	0	1	4	0	1	1	3	2	4	2	4	2	1	1	1	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92090721G>A	ENST00000285420.4	+	4	642	c.543G>A	c.(541-543)caG>caA	p.Q181Q	OTUD6B_ENST00000404789.3_Silent_p.Q50Q	NM_016023.3	NP_057107.3	Q8N6M0	OTU6B_HUMAN	OTU domain containing 6B	151	OTU.									endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11			BRCA - Breast invasive adenocarcinoma(11;0.0187)			AAATTAAACAGATTCCATCTG	0.408													A	92090721	G	A	92090721	2	1	364	1	0	0	0	0	0	0	0	1	11393	933	33	2		2	OTUD6B	8	92090721	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	996390	92090721	54273301	6866	30368											
SLC26A7	115111	broad.mit.edu	37	chr8	92261894	92261894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaatgacaggagcaaaGaggaaaaagaaaagcatgct	22	4	11	4	0	0	4	0	2	0	2	0	6	0	6	0	2	3	3	0	2	7	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92261894G>T	ENST00000276609.3	+	2	254	c.15G>T	c.(13-15)aaG>aaT	p.K5N	SLC26A7_ENST00000523719.1_Missense_Mutation_p.K5N|SLC26A7_ENST00000309536.2_Missense_Mutation_p.K5N	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	5						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			CAGGAGCAAAGAGGAAAAAGA	0.413													T	92261894	G	T	92261894	3	4	364	1	0	0	0	0	1	0	0	0	14616	933	33	4	17	4	SLC26A7	8	92261894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171173	92261894	54102128	6867	30369											
SLC26A7	115111	broad.mit.edu	37	chr8	92330558	92330558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcacaagtcaaatatCtcttgggaatgaaaatgcca	15	11	7	8	0	3	2	2	2	1	0	4	3	3	3	1	1	1	0	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92330558C>A	ENST00000276609.3	+	5	831	c.592C>A	c.(592-594)Ctc>Atc	p.L198I	SLC26A7_ENST00000523719.1_Missense_Mutation_p.L198I|SLC26A7_ENST00000309536.2_Missense_Mutation_p.L198I	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	198						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			AGTCAAATATCTCTTGGGAAT	0.443													A	92330558	C	A	92330558	3	1	364	1	0	0	0	0	1	0	0	0	14616	913	32	4	606	4	SLC26A7	8	92330558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68664	92330558	54033464	6868	30370											
SLC26A7	115111	broad.mit.edu	37	chr8	92352738	92352738	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcactggctcttgctcaaGgatctgccaaaaaattcaaa	13	10	6	12	0	5	0	3	0	2	0	5	1	5	1	2	2	2	2	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92352738G>T	ENST00000276609.3	+	8	1224	c.985G>T	c.(985-987)Gga>Tga	p.G329*	SLC26A7_ENST00000523719.1_Nonsense_Mutation_p.G329*|SLC26A7_ENST00000309536.2_Nonsense_Mutation_p.G329*	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	329						basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TCTTGCTCAAGGATCTGCCAA	0.512													T	92352738	G	T	92352738	4	4	364	1	0	0	0	0	0	1	0	0	14616	1001	35	4	1011	4	SLC26A7	8	92352738	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22180	92352738	54011284	6869	30371											
RUNX1T1	862	broad.mit.edu	37	chr8	92972475	92972475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctgagttcacgtctagcGaggggttgtctctatggtgg	5	14	15	7	2	4	1	1	1	3	0	5	2	4	1	0	4	1	3	0	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:92972475G>A	ENST00000523629.1	-	12	2264	c.1810C>T	c.(1810-1812)Cgc>Tgc	p.R604C	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R604C|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R615C|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R567C|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R567C|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R577C|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R567C	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	604					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			CACGTCTAGCGAGGGGTTGTC	0.542													A	92972475	G	A	92972475	3	1	364	1	0	0	0	0	1	0	0	0	13838	1058	37	1	8	1	RUNX1T1	8	92972475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	619737	92972475	53391547	6870	30372											
RBM12B	389677	broad.mit.edu	37	chr8	94746082	94746082	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggtcctcctccggagcttCcctaaggtcttcctctggga	5	11	11	14	1	2	0	0	0	2	0	7	2	7	2	5	4	1	1	5	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94746082C>A	ENST00000399300.2	-	3	2770	c.2557G>T	c.(2557-2559)Gaa>Taa	p.E853*	RBM12B_ENST00000517700.1_Nonsense_Mutation_p.E733*|RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	853							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCCGGAGCTTCCCTAAGGTCT	0.527													A	94746082	C	A	94746082	4	1	364	1	0	0	0	0	0	1	0	0	13202	864	30	4	452	4	RBM12B	8	94746082	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1773607	94746082	51617940	6871	30373											
RBM12B	389677	broad.mit.edu	37	chr8	94748355	94748355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtcccagatcctggaCgccctcttcctacacgatca	8	10	7	16	2	2	2	1	1	1	1	5	4	5	3	4	1	1	0	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94748355C>T	ENST00000399300.2	-	3	497	c.284G>A	c.(283-285)cGt>cAt	p.R95H	RBM12B_ENST00000517700.1_Missense_Mutation_p.R95H|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	95							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATCCTGGACGCCCTCTTCC	0.408													T	94748355	C	T	94748355	3	4	364	1	0	0	0	0	1	0	0	0	13202	536	19	1	2725	1	RBM12B	8	94748355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2273	94748355	51615667	6872	30374											
TMEM67	91147	broad.mit.edu	37	chr8	94793134	94793134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggctgttttatggagAccagttaggattagcacctc	8	14	10	9	0	0	1	0	0	0	1	2	3	1	2	3	3	1	4	3	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94793134A>G	ENST00000453321.3	+	9	960	c.902A>G	c.(901-903)gAc>gGc	p.D301G	TMEM67_ENST00000425545.2_3'UTR|TMEM67_ENST00000409623.3_Missense_Mutation_p.D220G	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	301					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTTTATGGAGACCAGTTAGGA	0.318													G	94793134	A	G	94793134	3	3	364	1	0	0	0	0	1	0	0	0	16296	275	10	3	1074	3	TMEM67	8	94793134	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44779	94793134	51570888	6873	30375											
PDP1	54704	broad.mit.edu	37	chr8	94934696	94934696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacctgcttgcagaccagaGggatgcttttgggggttttt	7	13	13	8	0	0	2	0	0	0	2	0	3	0	3	2	3	4	4	2	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:94934696G>T	ENST00000396200.3	+	3	760	c.484G>T	c.(484-486)Ggg>Tgg	p.G162W	PDP1_ENST00000297598.4_Missense_Mutation_p.G137W|PDP1_ENST00000520728.1_Missense_Mutation_p.G137W|PDP1_ENST00000517764.1_Missense_Mutation_p.G137W	NM_001161779.1	NP_001155251.1	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	137					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GCAGACCAGAGGGATGCTTTT	0.473													T	94934696	G	T	94934696	3	4	364	1	0	0	0	0	1	0	0	0	11761	1000	35	4	592	4	PDP1	8	94934696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141562	94934696	51429326	6874	30376											
CDH17	1015	broad.mit.edu	37	chr8	95183096	95183096	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcactgcatccttttcttCtcggtccaagggctgagtca	7	13	8	13	1	4	1	2	1	2	0	7	1	6	1	2	2	1	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95183096C>A	ENST00000027335.3	-	8	1025	c.901G>T	c.(901-903)Gaa>Taa	p.E301*	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Nonsense_Mutation_p.E301*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	301	Cadherin 3.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			TCCTTTTCTTCTCGGTCCAAG	0.418													A	95183096	C	A	95183096	4	1	364	1	0	0	0	0	0	1	0	0	3132	922	32	4	1641	4	CDH17	8	95183096	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248400	95183096	51180926	6875	30377											
CDH17	1015	broad.mit.edu	37	chr8	95189855	95189855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtttccctgtccaaggctCtgttgtaatacagaagtccc	8	14	8	11	0	1	1	0	0	1	1	4	1	4	1	3	1	1	4	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95189855C>T	ENST00000027335.3	-	4	369	c.245G>A	c.(244-246)aGa>aAa	p.R82K	CDH17_ENST00000441892.2_Missense_Mutation_p.R82K|CDH17_ENST00000450165.2_Missense_Mutation_p.R82K	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	82	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GTCCAAGGCTCTGTTGTAATA	0.463													T	95189855	C	T	95189855	3	4	364	1	0	0	0	0	1	0	0	0	3132	913	32	2	2313	2	CDH17	8	95189855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6759	95189855	51174167	6876	30378											
RAD54B	25788	broad.mit.edu	37	chr8	95412549	95412549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attattcaccaagcttccagGtgtgacaattagtgtcttct	10	15	7	9	0	3	1	1	1	2	0	4	1	4	1	2	1	1	1	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95412549G>A	ENST00000336148.5	-	7	1211	c.1087C>T	c.(1087-1089)Cct>Tct	p.P363S		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AAGCTTCCAGGTGTGACAATT	0.393								Direct reversal of damage;Homologous recombination					A	95412549	G	A	95412549	3	1	364	1	0	0	0	0	1	0	0	0	13080	1261	44	2	1681	2	RAD54B	8	95412549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222694	95412549	50951473	6877	30379											
RAD54B	25788	broad.mit.edu	37	chr8	95470649	95470649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgacgggagaaaggtgtTattaattgcaacaccctaaa	14	11	10	6	1	0	2	0	1	0	1	0	3	0	2	1	2	2	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95470649T>C	ENST00000336148.5	-	3	275	c.151A>G	c.(151-153)Aac>Gac	p.N51D	RAD54B_ENST00000297592.5_Missense_Mutation_p.N51D	NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AGAAAGGTGTTATTAATTGCA	0.284								Direct reversal of damage;Homologous recombination					C	95470649	T	C	95470649	3	2	364	1	0	0	0	0	1	0	0	0	13080	1754	61	3	2633	3	RAD54B	8	95470649	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58100	95470649	50893373	6878	30380											
KIAA1429	25962	broad.mit.edu	37	chr8	95522041	95522041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcatatctttcatcacCtttaatagttccattaatta	11	18	2	10	0	4	0	2	0	2	0	5	0	5	0	2	0	1	2	2	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95522041C>A	ENST00000297591.5	-	15	3829	c.3754G>T	c.(3754-3756)Ggt>Tgt	p.G1252C	KIAA1429_ENST00000523405.1_5'UTR|KIAA1429_ENST00000437199.1_Missense_Mutation_p.G1252C	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1252					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			CTTTCATCACCTTTAATAGTT	0.403													A	95522041	C	A	95522041	3	1	364	1	0	0	0	0	1	0	0	0	8289	681	24	4	1724	4	KIAA1429	8	95522041	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51392	95522041	50841981	6879	30381											
KIAA1429	25962	broad.mit.edu	37	chr8	95531688	95531688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtaaccaactccaagaagtGatgactgtgaagatatctgt	14	10	10	7	0	1	5	0	3	1	2	2	5	2	5	2	1	2	1	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95531688G>A	ENST00000297591.5	-	9	2113	c.2038C>T	c.(2038-2040)Cac>Tac	p.H680Y	KIAA1429_ENST00000421249.2_Missense_Mutation_p.H680Y|KIAA1429_ENST00000437199.1_Missense_Mutation_p.H680Y	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	680					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TCCAAGAAGTGATGACTGTGA	0.388													A	95531688	G	A	95531688	3	1	364	1	0	0	0	0	1	0	0	0	8289	1290	45	2	3518	2	KIAA1429	8	95531688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9647	95531688	50832334	6880	30382											
DPY19L4	286148	broad.mit.edu	37	chr8	95750652	95750652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccatttattactcctattAtaaagatatgttaaaggcac	14	15	5	7	0	0	1	0	0	0	1	1	1	1	1	2	1	2	2	2	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95750652A>G	ENST00000414645.2	+	4	407	c.308A>G	c.(307-309)tAt>tGt	p.Y103C		NM_181787.2	NP_861452.2	Q7Z388	D19L4_HUMAN	dpy-19-like 4 (C. elegans)	103						integral to membrane				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	21	Breast(36;3.85e-06)					TACTCCTATTATAAAGATATG	0.249													G	95750652	A	G	95750652	3	3	364	1	0	0	0	0	1	0	0	0	4782	449	16	3	322	3	DPY19L4	8	95750652	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	218964	95750652	50613370	6881	30383											
INTS8	55656	broad.mit.edu	37	chr8	95877901	95877901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaaacagagggaatctacGttaggtatcatgtatcggta	15	11	10	5	2	2	1	1	0	1	1	3	2	2	2	0	3	2	4	0	3	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95877901G>A	ENST00000523731.1	+	17	2377	c.2244G>A	c.(2242-2244)acG>acA	p.T748T	INTS8_ENST00000447247.1_Silent_p.T748T|INTS8_ENST00000520845.1_Intron	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	748					snRNA processing	integrator complex	protein binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					GGGAATCTACGTTAGGTATCA	0.338													A	95877901	G	A	95877901	2	1	364	1	0	0	0	0	0	0	0	1	7842	1132	40	1		1	INTS8	8	95877901	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127249	95877901	50486121	6882	30384											
TP53INP1	94241	broad.mit.edu	37	chr8	95953126	95953126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggttcttggttggaggaaGaactgacttcacccacaaac	11	10	10	10	0	2	2	1	1	1	1	2	4	2	4	1	4	2	2	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:95953126G>A	ENST00000342697.4	-	2	451	c.44C>T	c.(43-45)tCt>tTt	p.S15F	TP53INP1_ENST00000378776.4_Missense_Mutation_p.S15F|TP53INP1_ENST00000448464.2_Missense_Mutation_p.S15F|NDUFAF6_ENST00000396113.1_Intron	NM_033285.3	NP_150601.1	Q96A56	T53I1_HUMAN	tumor protein p53 inducible nuclear protein 1	15	Poly-Ser.				apoptosis	PML body				kidney(2)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	9	Breast(36;8.75e-07)					GTTGGAGGAAGAACTGACTTC	0.393													A	95953126	G	A	95953126	3	1	364	1	0	0	0	0	1	0	0	0	16489	942	33	2	716	2	TP53INP1	8	95953126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75225	95953126	50410896	6883	30385											
PTDSS1	9791	broad.mit.edu	37	chr8	97345702	97345702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggttctgaagacagcccaCccaagcatgcaggcaacaac	14	4	9	14	0	1	2	0	1	1	1	1	2	1	2	2	2	5	4	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:97345702C>T	ENST00000517309.1	+	13	1656	c.1330C>T	c.(1330-1332)Ccc>Tcc	p.P444S	PTDSS1_ENST00000455950.2_Missense_Mutation_p.P298S|PTDSS1_ENST00000522072.1_Missense_Mutation_p.P241S	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	444					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	AGACAGCCCACCCAAGCATGC	0.527											OREG0018880	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	97345702	C	T	97345702	3	4	364	1	0	0	0	0	1	0	0	0	12821	507	18	2	1380	2	PTDSS1	8	97345702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1392576	97345702	49018320	6884	30386											
TSPYL5	85453	broad.mit.edu	37	chr8	98289179	98289179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaatacgggttgcgatcGaagtagaacttgattttgta	12	13	12	4	3	0	2	0	1	0	1	1	5	0	3	0	2	3	3	0	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98289179G>A	ENST00000322128.3	-	1	997	c.894C>T	c.(892-894)ttC>ttT	p.F298F		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	298					cellular response to gamma radiation|nucleosome assembly|positive regulation of cell proliferation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|regulation of growth	nucleus	protein binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					GGTTGCGATCGAAGTAGAACT	0.478													A	98289179	G	A	98289179	2	1	364	1	0	0	0	0	0	0	0	1	16763	1049	37	1		1	TSPYL5	8	98289179	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	943477	98289179	48074843	6885	30387											
MTDH	92140	broad.mit.edu	37	chr8	98735147	98735147	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacttctaccgagccatCtgtaatcttatcaaaaagtg	12	13	6	10	1	4	0	1	0	3	0	4	1	4	0	2	0	4	2	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:98735147C>A	ENST00000336273.3	+	11	1890	c.1562C>A	c.(1561-1563)tCt>tAt	p.S521Y	MTDH_ENST00000519934.1_Missense_Mutation_p.S465Y	NM_178812.3	NP_848927.2	Q86UE4	LYRIC_HUMAN	metadherin	521					lipopolysaccharide-mediated signaling pathway|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|positive regulation of angiogenesis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein kinase B signaling cascade	apical plasma membrane|endoplasmic reticulum membrane|integral to membrane|intercellular canaliculus|nuclear body|nuclear membrane|nucleolus|perinuclear region of cytoplasm|tight junction	NF-kappaB binding|RNA polymerase II transcription factor binding|transcription coactivator activity	p.S521F(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Breast(36;2.56e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.178)			ACCGAGCCATCTGTAATCTTA	0.353													A	98735147	C	A	98735147	3	1	364	1	0	0	0	0	1	0	0	0	9993	913	32	4	1604	4	MTDH	8	98735147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	445968	98735147	47628875	6886	30388											
POP1	10940	broad.mit.edu	37	chr8	99168368	99168368	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttaactcaagactgggaGtcaagagtccaggcttacga	13	8	11	9	1	2	2	2	0	0	2	3	4	3	3	1	2	2	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99168368G>A	ENST00000401707.2	+	15	2229	c.2148G>A	c.(2146-2148)gaG>gaA	p.E716E	POP1_ENST00000349693.3_Silent_p.E716E	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	716					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AAGACTGGGAGTCAAGAGTCC	0.502													A	99168368	G	A	99168368	2	1	364	1	0	0	0	0	0	0	0	1	12328	1020	36	2		2	POP1	8	99168368	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	433221	99168368	47195654	6887	30389											
KCNS2	3788	broad.mit.edu	37	chr8	99440410	99440410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgacgacgtccagcgggAgttctacttcgaccgcaacc	9	7	10	15	6	1	0	0	0	1	0	3	4	2	1	3	1	4	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99440410A>G	ENST00000287042.4	+	2	553	c.203A>G	c.(202-204)gAg>gGg	p.E68G	KCNS2_ENST00000521839.1_Missense_Mutation_p.E68G	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	68						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GTCCAGCGGGAGTTCTACTTC	0.607													G	99440410	A	G	99440410	3	3	364	1	0	0	0	0	1	0	0	0	8147	304	11	3	205	3	KCNS2	8	99440410	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	272042	99440410	46923612	6888	30390											
STK3	6788	broad.mit.edu	37	chr8	99718840	99718840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatggagttcctattacaGtattgcgttttgccattgta	11	16	8	6	1	0	0	0	0	0	0	1	1	1	1	2	1	3	4	2	1	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:99718840G>A	ENST00000523601.1	-	8	1022	c.623C>T	c.(622-624)aCt>aTt	p.T208I	STK3_ENST00000419617.2_Missense_Mutation_p.T180I	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	180	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TCCTATTACAGTATTGCGTTT	0.378													A	99718840	G	A	99718840	3	1	364	1	0	0	0	0	1	0	0	0	15391	1029	36	2	960	2	STK3	8	99718840	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	278430	99718840	46645182	6889	30391											
VPS13B	157680	broad.mit.edu	37	chr8	100205171	100205171	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatctcacaattcaagctAcaagagcacagacacttctc	16	8	4	13	0	3	2	2	0	2	2	5	2	3	2	0	0	3	2	0	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100205171A>G	ENST00000395996.1	+	17	2512	c.2401A>G	c.(2401-2403)Aca>Gca	p.T801A	VPS13B_ENST00000521932.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.T801A|VPS13B_ENST00000355155.1_Missense_Mutation_p.T801A|VPS13B_ENST00000358544.2_Missense_Mutation_p.T801A			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	801					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			AATTCAAGCTACAAGAGCACA	0.373													G	100205171	A	G	100205171	3	3	364	1	0	0	0	0	1	0	0	0	17292	391	14	3	2505	3	VPS13B	8	100205171	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	486331	100205171	46158851	6890	30392											
VPS13B	157680	broad.mit.edu	37	chr8	100286531	100286531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtgcctctgggaccatggGatcaataaaaatttgtgcca	12	11	10	8	0	2	0	1	0	1	0	2	2	2	2	3	2	2	0	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100286531G>A	ENST00000395996.1	+	18	2732	c.2621G>A	c.(2620-2622)gGa>gAa	p.G874E	VPS13B_ENST00000357162.2_Missense_Mutation_p.G874E|VPS13B_ENST00000358544.2_Missense_Mutation_p.G874E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	874					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			GGGACCATGGGATCAATAAAA	0.448													A	100286531	G	A	100286531	3	1	364	1	0	0	0	0	1	0	0	0	17292	1174	41	2	2810	2	VPS13B	8	100286531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81360	100286531	46077491	6891	30393											
VPS13B	157680	broad.mit.edu	37	chr8	100396497	100396497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacccaatcttatatacGtggctcatctatcagcctca	11	13	5	12	1	5	1	3	1	2	0	5	1	5	1	2	1	2	1	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100396497G>A	ENST00000395996.1	+	20	2997	c.2886G>A	c.(2884-2886)acG>acA	p.T962T	VPS13B_ENST00000357162.2_Silent_p.T962T|VPS13B_ENST00000358544.2_Silent_p.T962T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	962					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCTTATATACGTGGCTCATCT	0.313													A	100396497	G	A	100396497	2	1	364	1	0	0	0	0	0	0	0	1	17292	1132	40	1		1	VPS13B	8	100396497	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109966	100396497	45967525	6892	30394											
VPS13B	157680	broad.mit.edu	37	chr8	100479713	100479713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggaaaacaagtgacaCtttgcctagtggaacctatg	12	12	9	8	0	1	1	0	1	1	0	1	3	1	3	2	2	3	0	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100479713C>A	ENST00000395996.1	+	24	3628	c.3517C>A	c.(3517-3519)Ctt>Att	p.L1173I	VPS13B_ENST00000357162.2_Missense_Mutation_p.L1173I|VPS13B_ENST00000358544.2_Missense_Mutation_p.L1173I			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1173					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			ACAAGTGACACTTTGCCTAGT	0.443													A	100479713	C	A	100479713	3	1	364	1	0	0	0	0	1	0	0	0	17292	565	20	4	3730	4	VPS13B	8	100479713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83216	100479713	45884309	6893	30395											
VPS13B	157680	broad.mit.edu	37	chr8	100493863	100493863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactaactgatatcatgaatAaggtctggaacaagattcag	17	10	8	6	0	3	3	2	2	1	1	3	4	3	4	0	2	3	0	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493863A>G	ENST00000395996.1	+	25	3814	c.3703A>G	c.(3703-3705)Aag>Gag	p.K1235E	VPS13B_ENST00000357162.2_Missense_Mutation_p.K1235E|VPS13B_ENST00000358544.2_Missense_Mutation_p.K1235E			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1235					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATCATGAATAAGGTCTGGAA	0.413													G	100493863	A	G	100493863	3	3	364	1	0	0	0	0	1	0	0	0	17292	363	13	3	3920	3	VPS13B	8	100493863	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14150	100493863	45870159	6894	30396											
VPS13B	157680	broad.mit.edu	37	chr8	100493974	100493974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagaagcagtataggcacaGctcctccagataccagcaca	14	7	8	12	0	0	2	0	0	0	2	2	2	2	2	3	1	4	5	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100493974G>A	ENST00000395996.1	+	25	3925	c.3814G>A	c.(3814-3816)Gct>Act	p.A1272T	VPS13B_ENST00000357162.2_Missense_Mutation_p.A1272T|VPS13B_ENST00000358544.2_Missense_Mutation_p.A1272T			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1272					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TATAGGCACAGCTCCTCCAGA	0.453													A	100493974	G	A	100493974	3	1	364	1	0	0	0	0	1	0	0	0	17292	971	34	2	4031	2	VPS13B	8	100493974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111	100493974	45870048	6895	30397											
VPS13B	157680	broad.mit.edu	37	chr8	100523657	100523657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccatacactgacatcccGcaatttacctttgatttatg	11	13	5	12	1	0	2	0	2	0	0	1	3	1	2	3	0	2	1	3	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100523657G>A	ENST00000358544.2	+	29	4736	c.4625G>A	c.(4624-4626)cGc>cAc	p.R1542H	VPS13B_ENST00000357162.2_Missense_Mutation_p.R1517H|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1542					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CTGACATCCCGCAATTTACCT	0.368													A	100523657	G	A	100523657	3	1	364	1	0	0	0	0	1	0	0	0	17292	1087	38	1	4929	1	VPS13B	8	100523657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29683	100523657	45840365	6896	30398											
VPS13B	157680	broad.mit.edu	37	chr8	100711875	100711875	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggcacatagtgaagagActtcagccatgtccaacacc	12	9	9	11	0	1	2	1	1	0	1	2	3	2	2	3	1	2	2	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100711875A>G	ENST00000358544.2	+	36	6355	c.6244A>G	c.(6244-6246)Act>Gct	p.T2082A	VPS13B_ENST00000357162.2_Missense_Mutation_p.T2057A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2082					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TAGTGAAGAGACTTCAGCCAT	0.383													G	100711875	A	G	100711875	3	3	364	1	0	0	0	0	1	0	0	0	17292	275	10	3	6576	3	VPS13B	8	100711875	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188218	100711875	45652147	6897	30399											
VPS13B	157680	broad.mit.edu	37	chr8	100830943	100830943	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttttatttttatagatTgtgttcagccctctttttat	7	23	4	7	0	2	1	1	0	1	1	3	1	3	1	2	0	1	1	2	0	4	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100830943T>C	ENST00000358544.2	+	47	8634	c.8523T>C	c.(8521-8523)atT>atC	p.I2841I	VPS13B_ENST00000357162.2_Silent_p.I2816I|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2841					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTTTATAGATTGTGTTCAGCC	0.353													C	100830943	T	C	100830943	2	2	364	1	0	0	0	0	0	0	0	1	17292	1800	63	3		3	VPS13B	8	100830943	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	119068	100830943	45533079	6898	30400											
VPS13B	157680	broad.mit.edu	37	chr8	100866174	100866174	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatactacatcaagactttGtttgacacctaccttcctaa	12	14	4	11	0	1	2	1	1	0	1	2	2	2	2	3	0	3	2	3	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:100866174G>A	ENST00000358544.2	+	56	10743	c.10632G>A	c.(10630-10632)ttG>ttA	p.L3544L	VPS13B_ENST00000357162.2_Silent_p.L3519L|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	3544					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TCAAGACTTTGTTTGACACCT	0.478													A	100866174	G	A	100866174	2	1	364	1	0	0	0	0	0	0	0	1	17292	1368	48	2		2	VPS13B	8	100866174	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35231	100866174	45497848	6899	30401											
RGS22	26166	broad.mit.edu	37	chr8	101018281	101018281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtctctttatgcaaagcCtgtagctttctgaagtatgt	10	16	8	7	0	2	1	0	1	2	0	3	1	2	1	1	0	3	4	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101018281C>A	ENST00000360863.6	-	16	2612	c.2418G>T	c.(2416-2418)caG>caT	p.Q806H	RGS22_ENST00000519421.1_5'UTR|RGS22_ENST00000523437.1_Missense_Mutation_p.Q794H|RGS22_ENST00000523287.1_Missense_Mutation_p.Q625H	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	806					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			TATGCAAAGCCTGTAGCTTTC	0.368													A	101018281	C	A	101018281	3	1	364	1	0	0	0	0	1	0	0	0	13394	680	24	4	1424	4	RGS22	8	101018281	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152107	101018281	45345741	6900	30402											
RGS22	26166	broad.mit.edu	37	chr8	101076146	101076146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagagcttgagaaggagtgtCttgtagagatacagacacct	14	9	12	6	0	1	4	0	1	1	4	1	7	1	5	1	1	2	2	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101076146C>T	ENST00000360863.6	-	8	1044	c.850G>A	c.(850-852)Gac>Aac	p.D284N	RGS22_ENST00000523437.1_Missense_Mutation_p.D272N|RGS22_ENST00000523287.1_Missense_Mutation_p.D103N	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	284					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			GAAGGAGTGTCTTGTAGAGAT	0.373													T	101076146	C	T	101076146	3	4	364	1	0	0	0	0	1	0	0	0	13394	913	32	2	3024	2	RGS22	8	101076146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57865	101076146	45287876	6901	30403											
FBXO43	286151	broad.mit.edu	37	chr8	101153118	101153118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttcctgtaatcttttcCtcttgcttttcatgaacagc	7	20	4	10	0	3	1	1	1	2	0	5	1	5	1	2	0	3	2	2	0	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153118C>A	ENST00000428847.2	-	2	1680	c.1364G>T	c.(1363-1365)aGg>aTg	p.R455M		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	455					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TAATCTTTTCCTCTTGCTTTT	0.423													A	101153118	C	A	101153118	3	1	364	1	0	0	0	0	1	0	0	0	5801	681	24	4	778	4	FBXO43	8	101153118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76972	101153118	45210904	6902	30404											
FBXO43	286151	broad.mit.edu	37	chr8	101153262	101153262	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctgctcttttttcaGagtcagggtggacaatctgc	7	13	11	10	0	4	1	2	0	2	1	4	2	4	2	0	2	4	3	0	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101153262G>T	ENST00000428847.2	-	2	1536	c.1220C>A	c.(1219-1221)tCt>tAt	p.S407Y		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	407					meiosis		zinc ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCTTTTTTCAGAGTCAGGGTG	0.473													T	101153262	G	T	101153262	3	4	364	1	0	0	0	0	1	0	0	0	5801	942	33	4	922	4	FBXO43	8	101153262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144	101153262	45210760	6903	30405											
RNF19A	25897	broad.mit.edu	37	chr8	101299988	101299988	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatctgtctttagaatGccgcaaaaggcacaaagggc	15	7	11	8	1	2	1	0	0	2	1	2	2	2	2	1	3	1	2	1	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101299988G>C	ENST00000519449.1	-	3	731	c.415C>G	c.(415-417)Cat>Gat	p.H139D	RNF19A_ENST00000341084.2_Missense_Mutation_p.H139D	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	139					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			TCTTTAGAATGCCGCAAAAGG	0.378													C	101299988	G	C	101299988	3	2	364	1	0	0	0	0	1	0	0	0	13561	1319	46	4	2137	4	RNF19A	8	101299988	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146726	101299988	45064034	6904	30406											
ANKRD46	157567	broad.mit.edu	37	chr8	101541754	101541754	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaacagagaacttaccaaAtatcaattttgagtccattg	17	11	5	8	0	1	2	1	1	0	1	2	3	2	2	2	0	4	0	2	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101541754A>C	ENST00000520311.1	-	3	1111	c.308T>G	c.(307-309)aTt>aGt	p.I103S	ANKRD46_ENST00000520552.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000519316.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000519597.1_Missense_Mutation_p.I103S|ANKRD46_ENST00000335659.3_Missense_Mutation_p.I103S	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	103						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AACTTACCAAATATCAATTTT	0.373													C	101541754	A	C	101541754	3	2	364	1	0	0	0	0	1	0	0	0	674	101	4	5	390	5	ANKRD46	8	101541754	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	241766	101541754	44822268	6905	30407											
SNX31	169166	broad.mit.edu	37	chr8	101642602	101642602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagacatcacttctcaacaCgtttgggtccatggttactg	10	12	9	10	1	2	1	2	0	1	1	4	2	3	1	1	2	2	2	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101642602C>T	ENST00000311812.2	-	4	424	c.274G>A	c.(274-276)Gtg>Atg	p.V92M		NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	92	PX.				cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			CTTCTCAACACGTTTGGGTCC	0.493													T	101642602	C	T	101642602	3	4	364	1	0	0	0	0	1	0	0	0	14995	536	19	1	1092	1	SNX31	8	101642602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100848	101642602	44721420	6906	30408											
PABPC1	26986	broad.mit.edu	37	chr8	101724636	101724636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaactctttccggagaCgttcatcatcaataccatca	14	10	6	11	2	5	2	4	0	1	2	6	4	6	2	2	1	2	1	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724636C>T	ENST00000318607.5	-	7	2054	c.926G>A	c.(925-927)cGt>cAt	p.R309H	PABPC1_ENST00000519004.1_Missense_Mutation_p.R264H|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.R277H	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	309	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			TTTCCGGAGACGTTCATCATC	0.318													T	101724636	C	T	101724636	3	4	364	1	0	0	0	0	1	0	0	0	11439	536	19	1	1016	1	PABPC1	8	101724636	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82034	101724636	44639386	6907	30409											
PABPC1	26986	broad.mit.edu	37	chr8	101724669	101724669	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatcatcaagatttttcAcataaagattaacaccctaa	17	12	2	10	0	3	2	3	0	0	2	3	2	3	2	2	0	2	0	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101724669A>G	ENST00000318607.5	-	7	2021	c.893T>C	c.(892-894)gTg>gCg	p.V298A	PABPC1_ENST00000519004.1_Missense_Mutation_p.V253A|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Missense_Mutation_p.V266A	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	298	RRM 4.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			AAGATTTTTCACATAAAGATT	0.333													G	101724669	A	G	101724669	3	3	364	1	0	0	0	0	1	0	0	0	11439	159	6	3	1049	3	PABPC1	8	101724669	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33	101724669	44639353	6908	30410											
YWHAZ	7534	broad.mit.edu	37	chr8	101936203	101936203	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcaagttgtctctcagtaAttgcattattagcgtgctgt	8	17	9	7	1	3	0	2	0	1	0	4	0	3	0	0	0	3	4	0	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:101936203A>C	ENST00000395957.2	-	6	999	c.658T>G	c.(658-660)Tta>Gta	p.L220V	YWHAZ_ENST00000457309.1_Missense_Mutation_p.L220V|YWHAZ_ENST00000522819.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000353245.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000395951.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000419477.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000522542.1_Missense_Mutation_p.L145V|YWHAZ_ENST00000395953.2_Missense_Mutation_p.L220V|YWHAZ_ENST00000395948.2_Missense_Mutation_p.L143V|YWHAZ_ENST00000395956.3_Missense_Mutation_p.L220V|YWHAZ_ENST00000521309.1_Missense_Mutation_p.L100V|YWHAZ_ENST00000395958.2_Missense_Mutation_p.L220V			P63104	1433Z_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, zeta polypeptide	220					anti-apoptosis|mRNA metabolic process|platelet activation|signal transduction	cytosol|melanosome	transcription factor binding			large_intestine(1)|lung(2)	3	all_cancers(14;7.43e-06)|all_epithelial(15;2.77e-08)|Lung NSC(17;6.08e-05)|all_lung(17;0.000197)		Epithelial(11;2.79e-11)|all cancers(13;5.45e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.75e-05)		Ginkgo biloba(DB01381)	TCTCTCAGTAATTGCATTATT	0.323													C	101936203	A	C	101936203	3	2	364	1	0	0	0	0	1	0	0	0	17608	98	4	5	87	5	YWHAZ	8	101936203	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	211534	101936203	44427819	6909	30411											
GRHL2	79977	broad.mit.edu	37	chr8	102631870	102631870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatacagttataacaatcGtagcaataaacccattcata	18	10	3	10	1	1	0	1	0	0	0	2	0	1	0	1	0	4	3	1	0	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102631870G>A	ENST00000251808.3	+	9	1540	c.1202G>A	c.(1201-1203)cGt>cAt	p.R401H	GRHL2_ENST00000395927.1_Missense_Mutation_p.R385H	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	401						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			TATAACAATCGTAGCAATAAA	0.363													A	102631870	G	A	102631870	3	1	364	1	0	0	0	0	1	0	0	0	6819	1145	40	1	1236	1	GRHL2	8	102631870	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	695667	102631870	43732152	6910	30412											
GRHL2	79977	broad.mit.edu	37	chr8	102661726	102661726	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgaagggcctgatggaagCggtaagccatatactccttt	11	10	12	8	1	0	2	0	2	0	0	1	3	1	3	3	3	3	1	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:102661726C>A	ENST00000251808.3	+	14	2035	c.1697C>A	c.(1696-1698)gCg>gAg	p.A566E	GRHL2_ENST00000395927.1_Splice_Site_p.A550E|GRHL2_ENST00000517674.1_Intron	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	566						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CTGATGGAAGCGGTAAGCCAT	0.507													A	102661726	C	A	102661726	5	1	364	1	0	0	0	0	0	0	1	0	6819	782	27	4	1751	4	GRHL2	8	102661726	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29856	102661726	43702296	6911	30413											
UBR5	51366	broad.mit.edu	37	chr8	103266626	103266626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggacgtaaagtcgagaaatGcaagtatttgcagtaggaag	15	8	14	4	2	0	1	0	0	0	1	1	4	0	3	0	2	2	5	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103266626G>A	ENST00000520539.1	-	59	8910	c.8304C>T	c.(8302-8304)tgC>tgT	p.C2768C	UBR5_ENST00000521922.1_Silent_p.C2761C|UBR5_ENST00000518205.1_Silent_p.C496C|UBR5_ENST00000220959.4_Silent_p.C2767C	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2768	HECT.				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)			GTCGAGAAATGCAAGTATTTG	0.423													A	103266626	G	A	103266626	2	1	364	1	0	0	0	0	0	0	0	1	17007	1311	46	2		2	UBR5	8	103266626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	604900	103266626	43097396	6912	30414											
UBR5	51366	broad.mit.edu	37	chr8	103288036	103288036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatcatgggaaataaccattCccataaagctacactgtggc	14	10	7	10	0	1	0	1	0	0	0	2	1	2	1	2	2	3	1	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103288036C>T	ENST00000520539.1	-	46	7136	c.6530G>A	c.(6529-6531)gGa>gAa	p.G2177E	UBR5_ENST00000220959.4_Missense_Mutation_p.G2177E|UBR5_ENST00000521922.1_Missense_Mutation_p.G2171E	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2177					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)			AATAACCATTCCCATAAAGCT	0.443													T	103288036	C	T	103288036	3	4	364	1	0	0	0	0	1	0	0	0	17007	855	30	2	1925	2	UBR5	8	103288036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21410	103288036	43075986	6913	30415											
UBR5	51366	broad.mit.edu	37	chr8	103312275	103312275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccaactagggggagctatgGggggtgaaactggatcctgg	9	7	17	8	0	0	1	0	1	0	0	1	3	1	3	2	7	3	1	2	7	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312275G>T	ENST00000520539.1	-	23	3665	c.3059C>A	c.(3058-3060)cCc>cAc	p.P1020H	UBR5_ENST00000220959.4_Missense_Mutation_p.P1020H|UBR5_ENST00000521922.1_Missense_Mutation_p.P1014H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1020					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)			GGGAGCTATGGGGGGTGAAAC	0.478													T	103312275	G	T	103312275	3	4	364	1	0	0	0	0	1	0	0	0	17007	1232	43	4	5488	4	UBR5	8	103312275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24239	103312275	43051747	6914	30416											
UBR5	51366	broad.mit.edu	37	chr8	103312351	103312351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaccagctgctctcaacgAacgtctcatcatttcccgta	11	10	5	15	3	3	0	3	0	2	0	6	1	4	0	2	0	5	3	2	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103312351A>G	ENST00000520539.1	-	23	3589	c.2983T>C	c.(2983-2985)Tcg>Ccg	p.S995P	UBR5_ENST00000220959.4_Missense_Mutation_p.S995P|UBR5_ENST00000521922.1_Missense_Mutation_p.S989P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	995					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)			GCTCTCAACGAACGTCTCATC	0.463													G	103312351	A	G	103312351	3	3	364	1	0	0	0	0	1	0	0	0	17007	246	9	3	5564	3	UBR5	8	103312351	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	76	103312351	43051671	6915	30417											
UBR5	51366	broad.mit.edu	37	chr8	103327066	103327066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctgttttcactggctcCtgcttactttcaggcctgag	5	17	8	11	0	3	1	2	1	1	0	4	1	4	1	2	2	2	3	2	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103327066C>A	ENST00000520539.1	-	15	2406	c.1800G>T	c.(1798-1800)caG>caT	p.Q600H	UBR5_ENST00000220959.4_Missense_Mutation_p.Q600H|UBR5_ENST00000521922.1_Missense_Mutation_p.Q594H	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	600					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)			TCACTGGCTCCTGCTTACTTT	0.373													A	103327066	C	A	103327066	3	1	364	1	0	0	0	0	1	0	0	0	17007	680	24	4	6779	4	UBR5	8	103327066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14715	103327066	43036956	6916	30418											
UBR5	51366	broad.mit.edu	37	chr8	103341316	103341316	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaatgcaaagtgtttcatAccttgttattttctgtagct	10	18	6	7	0	3	0	2	0	1	0	3	0	3	0	1	0	3	5	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103341316A>G	ENST00000520539.1	-	11	1933		c.e11+1		UBR5_ENST00000220959.4_Splice_Site|UBR5_ENST00000521922.1_Splice_Site	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5						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)			AGTGTTTCATACCTTGTTATT	0.323													G	103341316	A	G	103341316	5	3	364	1	0	0	0	0	0	0	1	0	17007	405	14	3	7267	3	UBR5	8	103341316	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14250	103341316	43022706	6917	30419											
UBR5	51366	broad.mit.edu	37	chr8	103354859	103354859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttcacgtaaacgtaaaaCggattcacgttcacgcaaca	14	9	7	11	6	3	0	3	0	0	0	4	1	3	1	0	1	3	5	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:103354859C>T	ENST00000520539.1	-	9	1546	c.940G>A	c.(940-942)Gtt>Att	p.V314I	UBR5_ENST00000220959.4_Missense_Mutation_p.V314I|UBR5_ENST00000521922.1_Missense_Mutation_p.V308I	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	314					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)			AAACGTAAAACGGATTCACGT	0.458													T	103354859	C	T	103354859	3	4	364	1	0	0	0	0	1	0	0	0	17007	536	19	1	7663	1	UBR5	8	103354859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13543	103354859	43009163	6918	30420											
FZD6	8323	broad.mit.edu	37	chr8	104342067	104342067	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacttctgcagtagcaattActagccatgattacctagga	12	11	8	10	0	1	1	0	1	1	0	1	2	1	2	2	1	5	4	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104342067A>G	ENST00000358755.4	+	6	2043	c.1726A>G	c.(1726-1728)Act>Gct	p.T576A	FZD6_ENST00000523739.1_Missense_Mutation_p.T544A|FZD6_ENST00000540287.1_Missense_Mutation_p.T271A|FZD6_ENST00000522566.1_Missense_Mutation_p.T576A	NM_001164616.1|NM_003506.3	NP_001158088.1|NP_003497.2	O60353	FZD6_HUMAN	frizzled family receptor 6	576					angiogenesis|axonogenesis|cell proliferation in midbrain|establishment of planar polarity|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|inner ear morphogenesis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|neural tube closure|non-canonical Wnt receptor signaling pathway	apical part of cell|apicolateral plasma membrane|cytoplasm|integral to plasma membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(57;2.86e-05)|STAD - Stomach adenocarcinoma(118;0.197)			AGTAGCAATTACTAGCCATGA	0.463													G	104342067	A	G	104342067	3	3	364	1	0	0	0	0	1	0	0	0	6186	391	14	3	1744	3	FZD6	8	104342067	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	987208	104342067	42021955	6919	30421											
DCAF13	25879	broad.mit.edu	37	chr8	104453788	104453788	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcgtcatcgacatctaccaAaatctatctatagccagatt	13	12	4	12	2	4	1	1	0	3	1	6	2	4	1	2	0	2	0	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104453788A>C	ENST00000297579.5	+	10	1925	c.1648A>C	c.(1648-1650)Aaa>Caa	p.K550Q		NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN	DDB1 and CUL4 associated factor 13	398					rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						ACATCTACCAAAATCTATCTA	0.383													C	104453788	A	C	104453788	3	2	364	1	0	0	0	0	1	0	0	0	4300	15	1	5	1686	5	DCAF13	8	104453788	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111721	104453788	41910234	6920	30422											
RIMS2	9699	broad.mit.edu	37	chr8	104897549	104897549	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcccatctgtgtccaGagatcagaatagaagatacg	16	7	10	8	1	2	5	1	0	1	5	3	6	3	5	2	0	2	0	2	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104897549G>T	ENST00000507740.1	+	2	382	c.146G>T	c.(145-147)aGa>aTa	p.R49I	RIMS2_ENST00000406091.3_Missense_Mutation_p.R241I|RIMS2_ENST00000436393.2_Missense_Mutation_p.R19I|RIMS2_ENST00000522174.1_3'UTR|RIMS2_ENST00000262231.10_Missense_Mutation_p.R49I	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	272	RabBD.				intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TCTGTGTCCAGAGATCAGAAT	0.388										HNSCC(12;0.0054)			T	104897549	G	T	104897549	3	4	364	1	0	0	0	0	1	0	0	0	13459	942	33	4	862	4	RIMS2	8	104897549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	443761	104897549	41466473	6921	30423											
RIMS2	9699	broad.mit.edu	37	chr8	104955039	104955039	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcattattagatgatgaGccacattggtacaaacttca	15	11	7	8	0	1	3	1	2	0	1	1	3	1	3	1	1	4	2	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:104955039G>A	ENST00000507740.1	+	11	2198	c.1962G>A	c.(1960-1962)gaG>gaA	p.E654E	RIMS2_ENST00000406091.3_Silent_p.E862E|RIMS2_ENST00000436393.2_Silent_p.E640E|RIMS2_ENST00000262231.10_Silent_p.E701E	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	924					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TAGATGATGAGCCACATTGGT	0.378										HNSCC(12;0.0054)			A	104955039	G	A	104955039	2	1	364	1	0	0	0	0	0	0	0	1	13459	962	34	2		2	RIMS2	8	104955039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57490	104955039	41408983	6922	30424											
RIMS2	9699	broad.mit.edu	37	chr8	105257185	105257185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagcactgtccaaagaagtAcagaaacaggcctggccgtg	13	5	13	10	1	0	2	0	0	0	2	1	3	1	3	3	3	3	2	3	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105257185A>G	ENST00000507740.1	+	18	3054	c.2818A>G	c.(2818-2820)Aca>Gca	p.T940A	RIMS2_ENST00000339750.2_Missense_Mutation_p.T62A|RIMS2_ENST00000406091.3_Missense_Mutation_p.T1126A|RIMS2_ENST00000436393.2_Missense_Mutation_p.T1144A|RIMS2_ENST00000262231.10_Missense_Mutation_p.T965A	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1188					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCAAAGAAGTACAGAAACAGG	0.438										HNSCC(12;0.0054)			G	105257185	A	G	105257185	3	3	364	1	0	0	0	0	1	0	0	0	13459	391	14	3	3650	3	RIMS2	8	105257185	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	302146	105257185	41106837	6923	30425											
LRP12	29967	broad.mit.edu	37	chr8	105503269	105503269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatgtaaaacgtacccagcGtagcccctgagtcatacgac	13	8	8	12	3	1	1	1	1	0	0	1	2	1	1	3	0	5	3	3	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:105503269G>A	ENST00000276654.5	-	7	2320	c.2212C>T	c.(2212-2214)Cgc>Tgc	p.R738C	LRP12_ENST00000424843.2_Missense_Mutation_p.R719C|LRP12_ENST00000518375.1_5'UTR	NM_013437.4	NP_038465.1	Q9Y561	LRP12_HUMAN	low density lipoprotein receptor-related protein 12	738					endocytosis|regulation of growth	coated pit|integral to plasma membrane	low-density lipoprotein receptor activity|protein binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48			OV - Ovarian serous cystadenocarcinoma(57;1.21e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CGTACCCAGCGTAGCCCCTGA	0.478													A	105503269	G	A	105503269	3	1	364	1	0	0	0	0	1	0	0	0	9024	1145	40	1	371	1	LRP12	8	105503269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246084	105503269	40860753	6924	30426											
ZFPM2	23414	broad.mit.edu	37	chr8	106814684	106814684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acccaagatgtgatatctttCcaggaattgtctctaaacac	13	12	6	10	0	2	2	0	1	2	1	4	3	3	3	2	1	1	0	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:106814684C>T	ENST00000407775.2	+	8	2624	c.2374C>T	c.(2374-2376)Cca>Tca	p.P792S	ZFPM2_ENST00000517361.1_Missense_Mutation_p.P660S|ZFPM2_ENST00000520492.1_Missense_Mutation_p.P660S|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.P523S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|RP11-152P17.2_ENST00000520594.1_RNA|RP11-152P17.2_ENST00000518932.1_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	792					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TGATATCTTTCCAGGAATTGT	0.438													T	106814684	C	T	106814684	3	4	364	1	0	0	0	0	1	0	0	0	17759	855	30	2	2404	2	ZFPM2	8	106814684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1311415	106814684	39549338	6925	30427											
OXR1	55074	broad.mit.edu	37	chr8	107715311	107715311	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagcaaaataaaggaatctTtacccatgtaagagtgatat	18	11	7	5	0	1	2	0	1	1	1	1	3	1	3	1	1	2	2	1	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107715311T>G	ENST00000445937.1	+	8	1114	c.853T>G	c.(853-855)Tta>Gta	p.L285V	OXR1_ENST00000517566.2_Missense_Mutation_p.L285V|OXR1_ENST00000442977.2_Missense_Mutation_p.L286V|OXR1_ENST00000497705.1_Missense_Mutation_p.L218V|OXR1_ENST00000531443.1_Missense_Mutation_p.L285V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000312046.6_Missense_Mutation_p.L278V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	286					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			AAAGGAATCTTTACCCATGTA	0.333													G	107715311	T	G	107715311	3	3	364	1	0	0	0	0	1	0	0	0	11410	1838	64	5	1082	5	OXR1	8	107715311	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	900627	107715311	38648711	6926	30428											
OXR1	55074	broad.mit.edu	37	chr8	107722882	107722882	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaagaaaagcaaaggcatCgattacataagttcttgtgt	17	11	8	5	1	1	1	0	0	1	1	2	2	1	1	0	1	2	3	0	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107722882C>T	ENST00000445937.1	+	10	1918	c.1657C>T	c.(1657-1659)Cga>Tga	p.R553*	OXR1_ENST00000517566.2_Nonsense_Mutation_p.R553*|OXR1_ENST00000442977.2_Nonsense_Mutation_p.R554*|OXR1_ENST00000531443.1_Nonsense_Mutation_p.R553*|OXR1_ENST00000452423.2_Nonsense_Mutation_p.R43*|OXR1_ENST00000312046.6_Nonsense_Mutation_p.R546*	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	554					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GCAAAGGCATCGATTACATAA	0.358													T	107722882	C	T	107722882	4	4	364	1	0	0	0	0	0	1	0	0	11410	876	31	1	1894	1	OXR1	8	107722882	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7571	107722882	38641140	6927	30429											
OXR1	55074	broad.mit.edu	37	chr8	107763107	107763107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgtaaaacgtttgggaatCgtacactttctaagaaggaa	14	12	9	6	2	1	1	0	0	1	1	2	3	1	3	0	2	2	3	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107763107C>T	ENST00000445937.1	+	16	2740	c.2479C>T	c.(2479-2481)Cgt>Tgt	p.R827C	OXR1_ENST00000449762.2_Missense_Mutation_p.R197C|OXR1_ENST00000517566.2_Missense_Mutation_p.R854C|OXR1_ENST00000297447.6_Missense_Mutation_p.R224C|OXR1_ENST00000442977.2_Missense_Mutation_p.R855C|OXR1_ENST00000531443.1_Missense_Mutation_p.R827C|OXR1_ENST00000521592.1_Missense_Mutation_p.R100C|OXR1_ENST00000452423.2_Missense_Mutation_p.R275C|OXR1_ENST00000312046.6_Missense_Mutation_p.R820C	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	855	TLD.				cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			GTTTGGGAATCGTACACTTTC	0.363													T	107763107	C	T	107763107	3	4	364	1	0	0	0	0	1	0	0	0	11410	884	31	1	2740	1	OXR1	8	107763107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40225	107763107	38600915	6928	30430											
ABRA	137735	broad.mit.edu	37	chr8	107781845	107781845	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccatagccgctgtcctCtgtgtctacgctgtcactcc	4	13	7	17	2	3	0	1	0	2	0	7	0	7	0	5	0	2	2	5	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:107781845C>A	ENST00000311955.3	-	1	628	c.574G>T	c.(574-576)Gag>Tag	p.E192*		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	192					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			CCGCTGTCCTCTGTGTCTACG	0.602													A	107781845	C	A	107781845	4	1	364	1	0	0	0	0	0	1	0	0	100	922	32	4	579	4	ABRA	8	107781845	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18738	107781845	38582177	6929	30431											
ANGPT1	284	broad.mit.edu	37	chr8	108296915	108296915	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtagcatgacttacctataGttttgcttttcatttcctat	8	20	5	8	0	1	1	1	1	0	0	2	1	2	1	2	0	3	4	2	0	5	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296915G>T	ENST00000520734.1	-	6	885	c.600C>A	c.(598-600)aaC>aaA	p.N200K	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.N199K			Q15389	ANGP1_HUMAN	angiopoietin 1	400					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTTACCTATAGTTTTGCTTTT	0.378													T	108296915	G	T	108296915	3	4	364	1	0	0	0	0	1	0	0	0	610	1020	36	4	308	4	ANGPT1	8	108296915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	515070	108296915	38067107	6930	30432											
ANGPT1	284	broad.mit.edu	37	chr8	108296941	108296941	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttcatttcctatgtggaAtctgtcatactgtgaatagg	9	17	8	7	0	3	1	2	1	1	0	4	2	4	2	1	2	1	0	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108296941A>C	ENST00000520734.1	-	6	859	c.574T>G	c.(574-576)Ttc>Gtc	p.F192V	ANGPT1_ENST00000518386.1_Intron|ANGPT1_ENST00000520052.1_Missense_Mutation_p.F191V			Q15389	ANGP1_HUMAN	angiopoietin 1	392					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CCTATGTGGAATCTGTCATAC	0.388													C	108296941	A	C	108296941	3	2	364	1	0	0	0	0	1	0	0	0	610	101	4	5	334	5	ANGPT1	8	108296941	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26	108296941	38067081	6931	30433											
RSPO2	340419	broad.mit.edu	37	chr8	108913404	108913404	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcctcttctccttcgcctTtggtgttctcttccctgcaa	2	18	6	15	1	3	0	0	0	3	0	8	0	5	0	4	1	1	3	4	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:108913404T>G	ENST00000276659.5	-	6	1251	c.631A>C	c.(631-633)Aag>Cag	p.K211Q	RSPO2_ENST00000378439.2_Missense_Mutation_p.K147Q|RSPO2_ENST00000517781.1_Missense_Mutation_p.K147Q|RSPO2_ENST00000517939.1_Missense_Mutation_p.K144Q	NM_178565.4	NP_848660.3	Q6UXX9	RSPO2_HUMAN	R-spondin 2	211					Wnt receptor signaling pathway	extracellular region	heparin binding		EIF3E/RSPO2(6)	haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	28			OV - Ovarian serous cystadenocarcinoma(57;1.55e-09)			tccttcgccttTGGTGTTCTC	0.423													G	108913404	T	G	108913404	3	3	364	1	0	0	0	0	1	0	0	0	13801	1850	64	5	104	5	RSPO2	8	108913404	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	616463	108913404	37450618	6932	30434											
TRHR	7201	broad.mit.edu	37	chr8	110099767	110099767	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgagacagtcagtgaacTgaaccaaacacagcttcagc	17	5	8	11	1	2	3	2	2	0	1	2	4	2	3	1	0	6	1	1	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110099767T>G	ENST00000518632.1	+	2	377	c.26T>G	c.(25-27)cTg>cGg	p.L9R	TRHR_ENST00000311762.2_Missense_Mutation_p.L9R			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	9						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			GTCAGTGAACTGAACCAAACA	0.458													G	110099767	T	G	110099767	3	3	364	1	0	0	0	0	1	0	0	0	16581	1580	55	5	28	5	TRHR	8	110099767	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1186363	110099767	36264255	6933	30435											
TRHR	7201	broad.mit.edu	37	chr8	110131387	110131387	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcctttccaagaaaattgGtttttgctcttttgcagaat	10	17	7	7	0	1	2	0	0	1	2	3	2	3	2	2	1	2	3	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110131387G>A	ENST00000518632.1	+	3	1251	c.900G>A	c.(898-900)tgG>tgA	p.W300*	TRHR_ENST00000311762.2_Nonsense_Mutation_p.W300*			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	300						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			AAGAAAATTGGTTTTTGCTCT	0.433													A	110131387	G	A	110131387	4	1	364	1	0	0	0	0	0	1	0	0	16581	1270	44	2	906	2	TRHR	8	110131387	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31620	110131387	36232635	6934	30436											
ENY2	56943	broad.mit.edu	37	chr8	110348394	110348394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgcgcagatgagagcagCgattaaccaaaagttgatag	16	7	12	6	2	0	4	0	2	0	3	0	6	0	4	1	0	4	3	1	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110348394C>T	ENST00000521688.1	+	2	189	c.44C>T	c.(43-45)gCg>gTg	p.A15V	ENY2_ENST00000520147.1_Missense_Mutation_p.A10V|ENY2_ENST00000522407.1_Intron|ENY2_ENST00000521662.1_Missense_Mutation_p.A10V	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)	15					histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			ATGAGAGCAGCGATTAACCAA	0.348													T	110348394	C	T	110348394	3	4	364	1	0	0	0	0	1	0	0	0	5187	768	27	1	50	1	ENY2	8	110348394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217007	110348394	36015628	6935	30437											
ENY2	56943	broad.mit.edu	37	chr8	110352717	110352717	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttttgcttttgcataaGaggtaattaaagaaaaagga	15	15	9	2	0	0	2	0	0	0	2	0	3	0	3	0	2	2	4	0	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110352717G>T	ENST00000521688.1	+	4	299		c.e4-1		ENY2_ENST00000520147.1_Splice_Site|ENY2_ENST00000522407.1_Splice_Site|ENY2_ENST00000521662.1_Splice_Site	NM_001193557.1|NM_020189.5	NP_001180486.1|NP_064574.1	Q9NPA8	ENY2_HUMAN	enhancer of yellow 2 homolog (Drosophila)						histone deubiquitination|mRNA transport|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity			endometrium(2)|large_intestine(1)|lung(1)	4	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;9.05e-13)			TTTTGCATAAGAGGTAATTAA	0.328													T	110352717	G	T	110352717	5	4	364	1	0	0	0	0	0	0	1	0	5187	956	33	4	168	4	ENY2	8	110352717	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4323	110352717	36011305	6936	30438											
PKHD1L1	93035	broad.mit.edu	37	chr8	110448591	110448591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tactctactgactttatctgGatttggctttaatgaaaatt	11	18	6	6	0	2	2	0	2	2	0	2	3	2	3	0	2	2	1	0	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110448591G>A	ENST00000378402.5	+	30	3634	c.3530G>A	c.(3529-3531)gGa>gAa	p.G1177E		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1177	IPT/TIG 5.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACTTTATCTGGATTTGGCTTT	0.318										HNSCC(38;0.096)			A	110448591	G	A	110448591	3	1	364	1	0	0	0	0	1	0	0	0	12049	1174	41	2	3648	2	PKHD1L1	8	110448591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95874	110448591	35915431	6937	30439											
PKHD1L1	93035	broad.mit.edu	37	chr8	110456104	110456104	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacaattattggacatggCtttagtaatctcccatgggc	12	13	8	8	0	1	0	0	0	1	0	2	1	1	1	1	3	1	2	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110456104C>A	ENST00000378402.5	+	37	4868	c.4764C>A	c.(4762-4764)ggC>ggA	p.G1588G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1588	IPT/TIG 8.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGGACATGGCTTTAGTAATC	0.328										HNSCC(38;0.096)			A	110456104	C	A	110456104	2	1	364	1	0	0	0	0	0	0	0	1	12049	784	28	4		4	PKHD1L1	8	110456104	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7513	110456104	35907918	6938	30440											
PKHD1L1	93035	broad.mit.edu	37	chr8	110464461	110464461	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatgcccatactctatcaggGtgggctccagtttgtgtcca	7	12	11	11	0	2	0	1	0	1	0	4	1	4	0	3	2	2	2	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110464461G>A	ENST00000378402.5	+	42	6563	c.6459G>A	c.(6457-6459)ggG>ggA	p.G2153G		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2153	IPT/TIG 14.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CTCTATCAGGGTGGGCTCCAG	0.448										HNSCC(38;0.096)			A	110464461	G	A	110464461	2	1	364	1	0	0	0	0	0	0	0	1	12049	1248	44	2		2	PKHD1L1	8	110464461	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8357	110464461	35899561	6939	30441											
PKHD1L1	93035	broad.mit.edu	37	chr8	110476889	110476889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaaagagttccccttggcGaattttttaacaatactgtc	14	13	6	8	1	0	1	0	0	0	1	2	2	1	1	2	1	2	1	2	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110476889G>A	ENST00000378402.5	+	49	7932	c.7828G>A	c.(7828-7830)Gaa>Aaa	p.E2610K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2610					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCCCCTTGGCGAATTTTTTAA	0.443										HNSCC(38;0.096)			A	110476889	G	A	110476889	3	1	364	1	0	0	0	0	1	0	0	0	12049	1059	37	1	8022	1	PKHD1L1	8	110476889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12428	110476889	35887133	6940	30442											
PKHD1L1	93035	broad.mit.edu	37	chr8	110498895	110498895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaaaataccatgtccCtggaactggtgagagctaca	14	8	10	9	0	0	2	0	2	0	1	1	4	1	3	2	2	5	2	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110498895C>A	ENST00000378402.5	+	59	9829	c.9725C>A	c.(9724-9726)cCt>cAt	p.P3242H		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3242					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TACCATGTCCCTGGAACTGGT	0.423										HNSCC(38;0.096)			A	110498895	C	A	110498895	3	1	364	1	0	0	0	0	1	0	0	0	12049	681	24	4	9959	4	PKHD1L1	8	110498895	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22006	110498895	35865127	6941	30443											
PKHD1L1	93035	broad.mit.edu	37	chr8	110535097	110535097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccatttcctcagcagccttCggtaaaggcaacagattctg	10	10	9	12	1	2	1	1	0	1	1	4	1	3	1	3	2	3	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110535097C>T	ENST00000378402.5	+	75	12412	c.12308C>T	c.(12307-12309)tCg>tTg	p.S4103L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	4103					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAGCAGCCTTCGGTAAAGGCA	0.458										HNSCC(38;0.096)			T	110535097	C	T	110535097	3	4	364	1	0	0	0	0	1	0	0	0	12049	893	31	1	12606	1	PKHD1L1	8	110535097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36202	110535097	35828925	6942	30444											
EBAG9	9166	broad.mit.edu	37	chr8	110569236	110569236	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtttctctagtagattaGcagctacacaagatctgcct	11	12	8	10	0	2	2	0	0	2	2	3	2	2	2	1	1	4	4	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110569236G>T	ENST00000337573.5	+	5	694	c.394G>T	c.(394-396)Gca>Tca	p.A132S	EBAG9_ENST00000531677.1_Missense_Mutation_p.A132S|EBAG9_ENST00000529502.1_3'UTR|EBAG9_ENST00000395785.2_Missense_Mutation_p.A132S	NM_001278938.1|NM_004215.3	NP_001265867.1|NP_004206.1	O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	132					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			TAGTAGATTAGCAGCTACACA	0.343													T	110569236	G	T	110569236	3	4	364	1	0	0	0	0	1	0	0	0	4918	971	34	4	408	4	EBAG9	8	110569236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34139	110569236	35794786	6943	30445											
EBAG9	9166	broad.mit.edu	37	chr8	110575634	110575634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctaacccttcagatccaggaCcaatgtatgtttactctgct	10	13	6	12	0	2	1	1	0	1	1	3	2	3	2	3	1	3	3	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:110575634C>T	ENST00000531677.1	+	6	530	c.530C>T	c.(529-531)aCc>aTc	p.T177I	EBAG9_ENST00000395785.2_Intron|EBAG9_ENST00000337573.5_Intron			O00559	RCAS1_HUMAN	estrogen receptor binding site associated, antigen, 9	174					apoptosis|regulation of cell growth	focal adhesion|Golgi membrane|integral to membrane|soluble fraction	apoptotic protease activator activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)	10			OV - Ovarian serous cystadenocarcinoma(57;1.39e-14)			AGATCCAGGACCAATGTATGT	0.443													T	110575634	C	T	110575634	3	4	364	1	0	0	0	0	1	0	0	0	4918	522	18	2		2	EBAG9	8	110575634	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6398	110575634	35788388	6944	30446											
CSMD3	114788	broad.mit.edu	37	chr8	113275879	113275879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catacttacgtaagcactgcGgtacttcaccactccaggta	11	10	7	13	2	1	0	1	0	0	0	2	0	2	0	2	2	5	4	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113275879G>A	ENST00000297405.5	-	61	10095	c.9851C>T	c.(9850-9852)cCg>cTg	p.P3284L	CSMD3_ENST00000455883.2_Missense_Mutation_p.P3115L|CSMD3_ENST00000343508.3_Missense_Mutation_p.P3244L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P3214L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3284	Sushi 25.					integral to membrane|plasma membrane		p.P3284Q(1)|p.P3244L(1)|p.P3284L(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAAGCACTGCGGTACTTCACC	0.398										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113275879	G	A	113275879	3	1	364	1	0	0	0	0	1	0	0	0	3979	1116	39	1	1316	1	CSMD3	8	113275879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2700245	113275879	33088143	6945	30447											
CSMD3	114788	broad.mit.edu	37	chr8	113347559	113347559	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcagataataccaaccGtgataactgagcacaaaaaa	19	7	5	10	1	1	3	1	2	1	1	2	3	1	3	2	0	4	1	2	0	7	3	rs61754528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113347559G>A	ENST00000297405.5	-	45	7408	c.7164C>T	c.(7162-7164)caC>caT	p.H2388H	CSMD3_ENST00000455883.2_Splice_Site_p.H2284H|CSMD3_ENST00000343508.3_Splice_Site_p.H2348H|CSMD3_ENST00000352409.3_Splice_Site_p.H2318H	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2388	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATACCAACCGTGATAACTGA	0.333										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113347559	G	A	113347559	5	1	364	1	0	0	0	0	0	0	1	0	3979	1159	40	1	4067	1	CSMD3	8	113347559	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71680	113347559	33016463	6946	30448											
CSMD3	114788	broad.mit.edu	37	chr8	113529312	113529312	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtaccgattttctacctgAatgcaggttattctttcctc	9	16	6	10	1	2	1	0	1	2	0	4	2	3	1	3	1	3	3	3	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:113529312A>T	ENST00000297405.5	-	28	4951	c.4707T>A	c.(4705-4707)atT>atA	p.I1569I	CSMD3_ENST00000455883.2_Silent_p.I1465I|CSMD3_ENST00000343508.3_Silent_p.I1529I|CSMD3_ENST00000352409.3_Silent_p.I1569I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1569	Sushi 8.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTTCTACCTGAATGCAGGTTA	0.393										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113529312	A	T	113529312	2	4	364	1	0	0	0	0	0	0	0	1	3979	242	9	5		5	CSMD3	8	113529312	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	181753	113529312	32834710	6947	30449											
CSMD3	114788	broad.mit.edu	37	chr8	114327022	114327022	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccacatgtataaataaatCctgcaacaaaagacaataaa	22	7	3	9	0	0	1	0	0	0	1	1	1	1	1	2	0	2	2	2	0	11	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:114327022C>A	ENST00000297405.5	-	2	423	c.179G>T	c.(178-180)gGa>gTa	p.G60V	CSMD3_ENST00000455883.2_Splice_Site_p.G60V|CSMD3_ENST00000343508.3_Splice_Site_p.G20V|CSMD3_ENST00000352409.3_Splice_Site_p.G60V	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	60						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ATAAATAAATCCTGCAACAAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	114327022	C	A	114327022	5	1	364	1	0	0	0	0	0	0	1	0	3979	869	30	4	11224	4	CSMD3	8	114327022	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	797710	114327022	32037000	6948	30450											
TRPS1	7227	broad.mit.edu	37	chr8	116599751	116599751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcctggcagtgaacaGtgttgaagtgctccagtagt	8	12	12	9	0	0	2	0	2	0	0	2	2	2	2	3	1	2	5	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:116599751G>T	ENST00000395715.3	-	5	2754	c.2177C>A	c.(2176-2178)aCt>aAt	p.T726N	TRPS1_ENST00000220888.5_Missense_Mutation_p.T713N|TRPS1_ENST00000519076.1_Missense_Mutation_p.T467N|TRPS1_ENST00000520276.1_Missense_Mutation_p.T717N|TRPS1_ENST00000519674.1_Missense_Mutation_p.T713N	NM_001282902.1|NM_001282903.1|NM_014112.2	NP_001269831.1|NP_001269832.1|NP_054831.2	Q9UHF7	TRPS1_HUMAN	trichorhinophalangeal syndrome I	713	Mediates interaction with GLI3.				negative regulation of transcription from RNA polymerase II promoter|NLS-bearing substrate import into nucleus|regulation of chondrocyte differentiation|skeletal system development|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(58)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	111	all_cancers(13;5.44e-23)|all_epithelial(1;2.14e-27)|Lung NSC(37;2.55e-05)|Ovarian(258;0.0219)		Epithelial(1;9.78e-37)|all cancers(1;3.14e-31)|BRCA - Breast invasive adenocarcinoma(1;2.56e-12)			GCAGTGAACAGTGTTGAAGTG	0.502									Langer-Giedion syndrome				T	116599751	G	T	116599751	3	4	364	1	0	0	0	0	1	0	0	0	16694	1029	36	4	1719	4	TRPS1	8	116599751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2272729	116599751	29764271	6949	30451											
EXT1	2131	broad.mit.edu	37	chr8	118834803	118834803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccatattaaactgttacGtgatatgtgcttgaatattc	11	17	7	6	1	0	2	0	2	0	0	2	2	1	2	1	0	3	3	1	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:118834803G>A	ENST00000378204.2	-	5	2124	c.1318C>T	c.(1318-1320)Cgt>Tgt	p.R440C		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	440					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			AAACTGTTACGTGATATGTGC	0.358			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				A	118834803	G	A	118834803	3	1	364	1	0	0	0	0	1	0	0	0	5365	1145	40	1	950	1	EXT1	8	118834803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2235052	118834803	27529219	6950	30452											
EXT1	2131	broad.mit.edu	37	chr8	119122459	119122459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcattcctggtgtctgatCctatccctgtcaggtacctc	6	13	9	13	0	2	1	1	1	1	0	6	1	5	1	4	3	1	2	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119122459C>A	ENST00000378204.2	-	1	1633	c.827G>T	c.(826-828)gGa>gTa	p.G276V		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	276					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			GGTGTCTGATCCTATCCCTGT	0.517			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				A	119122459	C	A	119122459	3	1	364	1	0	0	0	0	1	0	0	0	5365	855	30	4	1457	4	EXT1	8	119122459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	287656	119122459	27241563	6951	30453											
SAMD12	401474	broad.mit.edu	37	chr8	119593026	119593027	+	Frame_Shift_Ins	INS	-	-	T																															gcaccttctggaaatttttaINStttttaatggattgagattc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119593026_119593027insT	ENST00000409003.4	-	2	247_248	c.119_120insA	c.(118-120)aatfs	p.N40fs	SAMD12_ENST00000314727.4_Frame_Shift_Ins_p.N40fs	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	40										endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			GGAAATTTTTATTTTTAATGGA	0.45													T	119593027	-	T	119593026	7	5	364	1	0	1	1	0	0	0	0	0	13908	446	16	0	524	0	SAMD12	8	119593026	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	470567	119593026	26770996	6952	30454											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119936679	119936679	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaaaataacttctgataCaatttgtacattgtgaagct	15	15	5	6	0	2	2	0	2	2	0	2	2	2	2	0	0	4	2	0	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119936679C>T	ENST00000297350.4	-	5	1518	c.1140G>A	c.(1138-1140)ttG>ttA	p.L380L		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	380					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			ACTTCTGATACAATTTGTACA	0.383													T	119936679	C	T	119936679	2	4	364	1	0	0	0	0	0	0	0	1	16385	477	17	2		2	TNFRSF11B	8	119936679	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343653	119936679	26427343	6953	30455											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119941092	119941092	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatttgtgtgttttctacaGggtgctttagatgacgtctc	7	17	10	7	1	2	2	0	1	2	1	3	2	2	2	0	1	2	2	0	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:119941092G>T	ENST00000297350.4	-	3	855	c.477C>A	c.(475-477)ccC>ccA	p.P159P		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	159					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GTTTTCTACAGGGTGCTTTAG	0.413													T	119941092	G	T	119941092	2	4	364	1	0	0	0	0	0	0	0	1	16385	987	35	4		4	TNFRSF11B	8	119941092	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4413	119941092	26422930	6954	30456											
ENPP2	5168	broad.mit.edu	37	chr8	120612990	120612990	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaggcatagaccgaaggCctataagaaaattggaaggt	17	7	12	5	1	0	3	0	0	0	3	0	5	0	4	2	4	0	1	2	4	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120612990C>T	ENST00000427067.2	-	11	1068	c.888G>A	c.(886-888)agG>agA	p.R296R	ENPP2_ENST00000259486.6_Splice_Site_p.R300R|ENPP2_ENST00000522826.1_Splice_Site_p.R300R|ENPP2_ENST00000075322.6_Splice_Site_p.R300R			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	300					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGACCGAAGGCCTATAAGAAA	0.378													T	120612990	C	T	120612990	5	4	364	1	0	0	0	0	0	0	1	0	5171	753	26	2	1990	2	ENPP2	8	120612990	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	671898	120612990	25751032	6955	30457											
ENPP2	5168	broad.mit.edu	37	chr8	120628563	120628563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctcgcagatgaaaagtgGcatcaaatacaggatcatac	15	7	9	10	1	2	2	2	1	0	1	3	3	2	3	1	2	2	2	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120628563G>A	ENST00000427067.2	-	8	887	c.707C>T	c.(706-708)gCc>gTc	p.A236V	ENPP2_ENST00000259486.6_Missense_Mutation_p.A240V|ENPP2_ENST00000522826.1_Missense_Mutation_p.A240V|ENPP2_ENST00000075322.6_Missense_Mutation_p.A240V			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	240					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGAAAAGTGGCATCAAATAC	0.363													A	120628563	G	A	120628563	3	1	364	1	0	0	0	0	1	0	0	0	5171	1203	42	2	2183	2	ENPP2	8	120628563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15573	120628563	25735459	6956	30458											
TAF2	6873	broad.mit.edu	37	chr8	120818592	120818592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcctgcatcagggtccaCagcactaactgcagctgcat	10	10	8	13	0	1	0	1	0	0	0	3	0	3	0	2	1	6	5	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:120818592C>T	ENST00000378164.2	-	4	647	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	117					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAGGGTCCACAGCACTAACT	0.398													T	120818592	C	T	120818592	3	4	364	1	0	0	0	0	1	0	0	0	15621	478	17	2	3342	2	TAF2	8	120818592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190029	120818592	25545430	6957	30459											
COL14A1	7373	broad.mit.edu	37	chr8	121344960	121344960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcatgggaccgcaaggcGccctgggaccacctgtgagt	9	5	15	12	2	0	1	0	1	0	0	0	4	0	3	4	3	1	2	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121344960G>A	ENST00000297848.3	+	42	5041	c.4771G>A	c.(4771-4773)Gcc>Acc	p.A1591T	COL14A1_ENST00000247781.3_Missense_Mutation_p.A1496T|COL14A1_ENST00000309791.4_Missense_Mutation_p.A1591T	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1591	Triple-helical region 1 (COL2).				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging	p.A1591T(1)		NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			ACCGCAAGGCGCCCTGGGACC	0.507													A	121344960	G	A	121344960	3	1	364	1	0	0	0	0	1	0	0	0	3702	1087	38	1	4933	1	COL14A1	8	121344960	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	526368	121344960	25019062	6958	30460											
MTBP	27085	broad.mit.edu	37	chr8	121463488	121463488	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgttcttcaaacgaatatCgaagaatgtttgggtgctgt	11	14	11	5	2	2	1	1	0	1	1	3	4	2	1	0	1	2	3	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121463488C>T	ENST00000305949.1	+	4	396	c.351C>T	c.(349-351)atC>atT	p.I117I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	117					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			AAACGAATATCGAAGAATGTT	0.313													T	121463488	C	T	121463488	2	4	364	1	0	0	0	0	0	0	0	1	9988	874	31	1		1	MTBP	8	121463488	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118528	121463488	24900534	6959	30461											
MTBP	27085	broad.mit.edu	37	chr8	121467747	121467747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgaaagactatttacctaCtgtaggagcattaaaacatt	16	13	6	6	0	0	2	0	1	0	1	0	3	0	3	1	1	4	2	1	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:121467747C>T	ENST00000305949.1	+	6	602	c.557C>T	c.(556-558)aCt>aTt	p.T186I		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	186					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TATTTACCTACTGTAGGAGCA	0.318													T	121467747	C	T	121467747	3	4	364	1	0	0	0	0	1	0	0	0	9988	565	20	2	579	2	MTBP	8	121467747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4259	121467747	24896275	6960	30462											
ZHX2	22882	broad.mit.edu	37	chr8	123964116	123964116	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttcacaaccaaaaagtaCgactccctatccgaccacaa	17	6	3	15	2	1	0	1	0	0	0	3	2	3	0	4	0	3	1	4	0	7	3	rs139940405	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:123964116C>T	ENST00000314393.4	+	3	1201	c.366C>T	c.(364-366)taC>taT	p.Y122Y		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	122						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			CCAAAAAGTACGACTCCCTAT	0.478													T	123964116	C	T	123964116	2	4	364	1	0	0	0	0	0	0	0	1	17777	547	19	1		1	ZHX2	8	123964116	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2496369	123964116	22399906	6961	30463											
FAM83A	84985	broad.mit.edu	37	chr8	124195134	124195134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcaaaatccggaagcGtctggaagatgtcaagagcc	12	6	13	10	2	2	2	1	0	1	2	3	4	3	4	3	3	2	1	3	3	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124195134G>A	ENST00000518448.1	+	2	2052	c.38G>A	c.(37-39)cGt>cAt	p.R13H	FAM83A_ENST00000546351.1_Missense_Mutation_p.R13H|FAM83A_ENST00000536633.1_Missense_Mutation_p.R13H|FAM83A_ENST00000522648.1_Missense_Mutation_p.R13H|FAM83A_ENST00000318462.6_Missense_Mutation_p.R13H|FAM83A_ENST00000276699.6_Missense_Mutation_p.R13H			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	13										breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			ATCCGGAAGCGTCTGGAAGAT	0.647													A	124195134	G	A	124195134	3	1	364	1	0	0	0	0	1	0	0	0	5683	1145	40	1	40	1	FAM83A	8	124195134	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231018	124195134	22168888	6962	30464											
FAM83A	84985	broad.mit.edu	37	chr8	124219712	124219712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgcggccccacacccGcctccaccgccccggttcca	5	3	8	25	5	0	0	0	0	0	0	2	0	2	0	11	2	1	1	11	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124219712G>A	ENST00000518448.1	+	5	3103	c.1089G>A	c.(1087-1089)ccG>ccA	p.P363P	FAM83A_ENST00000546351.1_Intron|FAM83A_ENST00000536633.1_Intron|FAM83A_ENST00000522648.1_Intron|FAM83A_ENST00000318462.6_Silent_p.P363P|FAM83A_ENST00000276699.6_Intron			Q86UY5	FA83A_HUMAN	family with sequence similarity 83, member A	363	Pro-rich.									breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(2)|skin(1)	17	Lung NSC(37;1.55e-09)|Ovarian(258;0.0205)		STAD - Stomach adenocarcinoma(47;0.00527)			CCCCACACCCGCCTCCACCGC	0.766													A	124219712	G	A	124219712	2	1	364	1	0	0	0	0	0	0	0	1	5683	1074	38	1		1	FAM83A	8	124219712	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24578	124219712	22144310	6963	30465											
C8orf76	84933	broad.mit.edu	37	chr8	124243798	124243798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctgtttctgagatgacGcaagtgctgctgaaagagct	9	12	13	7	1	1	4	0	3	1	2	1	5	1	4	0	0	4	6	0	0	2	1	rs149988027		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124243798G>A	ENST00000276704.4	-	4	608	c.557C>T	c.(556-558)gCg>gTg	p.A186V	C8orf76_ENST00000521310.1_5'UTR|ZHX1-C8ORF76_ENST00000357082.4_Missense_Mutation_p.A154V	NM_032847.2	NP_116236.1	Q96K31	CH076_HUMAN	chromosome 8 open reading frame 76	186							binding			NS(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(4)	17	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			CTGAGATGACGCAAGTGCTGC	0.443													A	124243798	G	A	124243798	3	1	364	1	0	0	0	0	1	0	0	0	2463	1087	38	1	597	1	C8orf76	8	124243798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24086	124243798	22120224	6964	30466											
ATAD2	29028	broad.mit.edu	37	chr8	124340563	124340563	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctcattctctatattacaAgtatttgaattatttctcaa	13	18	3	7	0	3	1	2	1	2	0	5	1	3	1	0	0	2	2	0	0	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124340563A>G	ENST00000287394.5	-	25	3842	c.3735T>C	c.(3733-3735)acT>acC	p.T1245T	ATAD2_ENST00000521903.1_Silent_p.T563T	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	1245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTATATTACAAGTATTTGAAT	0.378													G	124340563	A	G	124340563	2	3	364	1	0	0	0	0	0	0	0	1	1076	59	3	3		3	ATAD2	8	124340563	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96765	124340563	22023459	6965	30467											
KLHL38	340359	broad.mit.edu	37	chr8	124658070	124658070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgtccctgggatgtccagGtgtccgtctcggggtcgtag	3	11	16	11	3	1	0	0	0	1	0	6	1	4	1	3	4	0	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124658070G>T	ENST00000325995.7	-	3	1678	c.1655C>A	c.(1654-1656)aCc>aAc	p.T552N	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	552										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGATGTCCAGGTGTCCGTCTC	0.612													T	124658070	G	T	124658070	3	4	364	1	0	0	0	0	1	0	0	0	8448	1261	44	4	94	4	KLHL38	8	124658070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	317507	124658070	21705952	6966	30468											
FAM91A1	157769	broad.mit.edu	37	chr8	124792766	124792766	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgtaccaatatctgaTgacagttgtatagcaggtaa	13	12	10	6	0	1	2	0	2	1	0	1	3	1	3	1	2	2	5	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124792766T>C	ENST00000334705.7	+	8	933	c.687T>C	c.(685-687)gaT>gaC	p.D229D	FAM91A1_ENST00000521166.1_Silent_p.D229D	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	229										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			CAATATCTGATGACAGTTGTA	0.348													C	124792766	T	C	124792766	2	2	364	1	0	0	0	0	0	0	0	1	5700	1461	51	3		3	FAM91A1	8	124792766	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	134696	124792766	21571256	6967	30469											
FER1L6	654463	broad.mit.edu	37	chr8	124987529	124987529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctaaaacttctgacacCgaggagccaatagaaaagta	17	6	8	10	1	1	2	0	1	1	1	1	4	1	3	3	1	3	1	3	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124987529C>T	ENST00000522917.1	+	8	872	c.666C>T	c.(664-666)acC>acT	p.T222T	FER1L6_ENST00000399018.1_Silent_p.T222T	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	222						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			CTTCTGACACCGAGGAGCCAA	0.453													T	124987529	C	T	124987529	2	4	364	1	0	0	0	0	0	0	0	1	5864	639	23	1		1	FER1L6	8	124987529	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194763	124987529	21376493	6968	30470											
FER1L6	654463	broad.mit.edu	37	chr8	124992896	124992896	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctaaattttccaaggccCtgaaggagctcaagttgcct	12	11	8	10	0	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:124992896C>A	ENST00000522917.1	+	11	1461	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	FER1L6_ENST00000399018.1_Missense_Mutation_p.L419M	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	419						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCAAGGCCCTGAAGGAGCT	0.468											OREG0018964	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	124992896	C	A	124992896	3	1	364	1	0	0	0	0	1	0	0	0	5864	680	24	4	1293	4	FER1L6	8	124992896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5367	124992896	21371126	6969	30471											
FER1L6	654463	broad.mit.edu	37	chr8	125131098	125131098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcagggcaaggttgaagCtgagttccacctagttacag	10	11	12	8	0	0	2	0	2	0	0	1	2	1	2	2	2	3	6	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125131098C>T	ENST00000522917.1	+	40	5509	c.5303C>T	c.(5302-5304)gCt>gTt	p.A1768V	FER1L6_ENST00000399018.1_Missense_Mutation_p.A1768V|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1768						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGGTTGAAGCTGAGTTCCAC	0.488													T	125131098	C	T	125131098	3	4	364	1	0	0	0	0	1	0	0	0	5864	797	28	2	5457	2	FER1L6	8	125131098	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138202	125131098	21232924	6970	30472											
TRMT12	55039	broad.mit.edu	37	chr8	125464168	125464168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatgctggaggcattttgCatatccaccaaaatgtggaa	13	10	11	7	0	0	0	0	0	0	0	1	3	1	3	2	4	2	3	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125464168C>T	ENST00000328599.3	+	1	1121	c.1000C>T	c.(1000-1002)Cat>Tat	p.H334Y	TRMT12_ENST00000521443.1_Intron	NM_017956.3	NP_060426.2	Q53H54	TYW2_HUMAN	tRNA methyltransferase 12 homolog (S. cerevisiae)	334					tRNA processing		methyltransferase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	Ovarian(258;0.00438)|all_neural(195;0.0779)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			AGGCATTTTGCATATCCACCA	0.478													T	125464168	C	T	125464168	3	4	364	1	0	0	0	0	1	0	0	0	16665	710	25	2	1002	2	TRMT12	8	125464168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	333070	125464168	20899854	6971	30473											
MTSS1	9788	broad.mit.edu	37	chr8	125575091	125575091	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctgggatatgaatcCtgagtcatgggaggacacgc	10	8	14	9	1	1	2	1	2	0	0	3	5	3	5	2	4	0	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125575091C>A	ENST00000518547.1	-	10	1440	c.967G>T	c.(967-969)Gga>Tga	p.G323*	MTSS1_ENST00000325064.5_Nonsense_Mutation_p.G327*|MTSS1_ENST00000354184.4_Nonsense_Mutation_p.G123*|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000395508.2_Nonsense_Mutation_p.G57*|MTSS1_ENST00000524090.1_Nonsense_Mutation_p.G213*|MTSS1_ENST00000431961.2_Nonsense_Mutation_p.G123*|MTSS1_ENST00000523587.1_5'UTR|MTSS1_ENST00000378017.3_Nonsense_Mutation_p.G323*	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	323	Ser-rich.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GATATGAATCCTGAGTCATGG	0.622													A	125575091	C	A	125575091	4	1	364	1	0	0	0	0	0	1	0	0	10038	690	24	4	1320	4	MTSS1	8	125575091	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110923	125575091	20788931	6972	30474											
MTSS1	9788	broad.mit.edu	37	chr8	125579376	125579376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttagatcttccgagatgGtctgaaggtgggttatttcc	7	17	11	6	1	2	3	0	1	2	2	4	4	4	3	2	3	0	1	2	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125579376G>A	ENST00000518547.1	-	8	1135	c.662C>T	c.(661-663)aCc>aTc	p.T221I	MTSS1_ENST00000325064.5_Missense_Mutation_p.T225I|MTSS1_ENST00000354184.4_Missense_Mutation_p.T21I|NDUFB9_ENST00000522532.1_Intron|MTSS1_ENST00000524090.1_Missense_Mutation_p.T111I|MTSS1_ENST00000431961.2_Missense_Mutation_p.T21I|MTSS1_ENST00000378017.3_Missense_Mutation_p.T221I	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	221	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCCGAGATGGTCTGAAGGTG	0.443													A	125579376	G	A	125579376	3	1	364	1	0	0	0	0	1	0	0	0	10038	1261	44	2	1633	2	MTSS1	8	125579376	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4285	125579376	20784646	6973	30475											
ZNF572	137209	broad.mit.edu	37	chr8	125989977	125989977	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcagcatcggaaaatTcacgtagaaaagccttttga	14	10	8	9	2	3	2	3	1	0	1	4	3	3	3	1	1	2	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:125989977T>C	ENST00000319286.5	+	3	1621	c.1467T>C	c.(1465-1467)atT>atC	p.I489I		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			ATCGGAAAATTCACGTAGAAA	0.463										HNSCC(60;0.17)			C	125989977	T	C	125989977	2	2	364	1	0	0	0	0	0	0	0	1	18105	1771	62	3		3	ZNF572	8	125989977	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	410601	125989977	20374045	6974	30476											
SQLE	6713	broad.mit.edu	37	chr8	126017926	126017926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcatcatgagtctccggaAagcagctatggcagagccca	12	8	10	11	1	3	2	2	1	1	1	4	3	3	3	2	2	3	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126017926A>G	ENST00000265896.5	+	3	1602	c.704A>G	c.(703-705)aAa>aGa	p.K235R	SQLE_ENST00000523430.1_Missense_Mutation_p.K140R	NM_003129.3	NP_003120.2	Q14534	ERG1_HUMAN	squalene epoxidase	235					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome	flavin adenine dinucleotide binding|squalene monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	14	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		Butenafine(DB01091)|Naftifine(DB00735)|Terbinafine(DB00857)	AGTCTCCGGAAAGCAGCTATG	0.373													G	126017926	A	G	126017926	3	3	364	1	0	0	0	0	1	0	0	0	15224	14	1	3	714	3	SQLE	8	126017926	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27949	126017926	20346096	6975	30477											
KIAA0196	9897	broad.mit.edu	37	chr8	126044599	126044599	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcccaggacaagtggtggCcaatcaaccgggtcggtcgg	9	6	15	11	3	1	0	1	0	0	0	4	1	2	1	3	6	1	0	3	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126044599C>T	ENST00000318410.7	-	27	3568	c.3219G>A	c.(3217-3219)tgG>tgA	p.W1073*	KIAA0196_ENST00000517845.1_Nonsense_Mutation_p.W925*	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	1073					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAAGTGGTGGCCAATCAACCG	0.522													T	126044599	C	T	126044599	4	4	364	1	0	0	0	0	0	1	0	0	8219	740	26	2	272	2	KIAA0196	8	126044599	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26673	126044599	20319423	6976	30478											
KIAA0196	9897	broad.mit.edu	37	chr8	126073352	126073353	+	Frame_Shift_Ins	INS	-	-	T																															agcttgtatcagttgtacagINStttttctgcccgcagcagta																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126073352_126073353insT	ENST00000318410.7	-	12	1841_1842	c.1492_1493insA	c.(1492-1494)actfs	p.T498fs	KIAA0196_ENST00000517845.1_Frame_Shift_Ins_p.T350fs	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	498					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CAGTTGTACAGTTTTTCTGCCC	0.376													T	126073353	-	T	126073352	7	5	364	1	0	1	1	0	0	0	0	0	8219	1029	36	0	2058	0	KIAA0196	8	126073352	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	28753	126073352	20290670	6977	30479											
TRIB1	10221	broad.mit.edu	37	chr8	126445615	126445615	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttacatccagctgccatcGcacagcaacattactggcat	11	9	6	15	1	0	0	0	0	0	0	2	0	1	0	3	1	6	4	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:126445615G>A	ENST00000311922.3	+	2	999	c.417G>A	c.(415-417)tcG>tcA	p.S139S	TRIB1_ENST00000520847.1_5'UTR|TRIB1_ENST00000521778.1_3'UTR	NM_001282985.1|NM_025195.2	NP_001269914.1|NP_079471.1	Q96RU8	TRIB1_HUMAN	tribbles pseudokinase 1	139	Protein kinase.				JNK cascade|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell proliferation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|regulation of MAP kinase activity|response to lipopolysaccharide	cytoplasm|nucleus	ATP binding|mitogen-activated protein kinase kinase binding|protein kinase activity|protein kinase inhibitor activity|transcription factor binding|ubiquitin protein ligase binding|ubiquitin-protein ligase regulator activity	p.S139S(2)		NS(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8	all_hematologic(1;4.97e-05)|Ovarian(258;0.00167)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)			AGCTGCCATCGCACAGCAACA	0.493													A	126445615	G	A	126445615	2	1	364	1	0	0	0	0	0	0	0	1	16583	1074	38	1		1	TRIB1	8	126445615	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372263	126445615	19918407	6978	30480											
FAM84B	157638	broad.mit.edu	37	chr8	127569239	127569239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccacatatacggcccaGtgcgggtactgagcctgcga	9	8	11	13	3	0	1	0	1	0	0	0	2	0	1	3	2	6	1	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:127569239G>T	ENST00000304916.3	-	2	851	c.396C>A	c.(394-396)caC>caA	p.H132Q	RP11-103H7.5_ENST00000524320.1_RNA	NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	132						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			ATACGGCCCAGTGCGGGTACT	0.647													T	127569239	G	T	127569239	3	4	364	1	0	0	0	0	1	0	0	0	5692	1020	36	4	540	4	FAM84B	8	127569239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1123624	127569239	18794783	6979	30481											
ASAP1	50807	broad.mit.edu	37	chr8	131124478	131124478	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccttggagtgctgaatcCtggcagtgccagcttgtcct	5	12	12	12	0	0	1	0	1	0	0	3	2	3	2	4	2	3	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131124478C>A	ENST00000357668.1	-	23	2290	c.2263G>T	c.(2263-2265)Gga>Tga	p.G755*	ASAP1_ENST00000518721.1_Nonsense_Mutation_p.G755*			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	755					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GTGCTGAATCCTGGCAGTGCC	0.572													A	131124478	C	A	131124478	4	1	364	1	0	0	0	0	0	1	0	0	1015	690	24	4	1154	4	ASAP1	8	131124478	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3555239	131124478	15239544	6980	30482											
ASAP1	50807	broad.mit.edu	37	chr8	131191542	131191542	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtaatactttataagattCtgcagcagatccacaccctt	12	13	6	10	0	1	2	0	0	1	2	2	2	2	2	2	1	3	3	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:131191542C>T	ENST00000357668.1	-	8	741	c.714G>A	c.(712-714)caG>caA	p.Q238Q	ASAP1_ENST00000518721.1_Silent_p.Q238Q			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	238					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding	p.Q238H(1)		breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						TTATAAGATTCTGCAGCAGAT	0.368													T	131191542	C	T	131191542	2	4	364	1	0	0	0	0	0	0	0	1	1015	912	32	2		2	ASAP1	8	131191542	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67064	131191542	15172480	6981	30483											
KCNQ3	3786	broad.mit.edu	37	chr8	133152421	133152421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccatggggtcacctgtcccGgcatctgggagggagacaca	8	6	15	12	1	2	1	1	0	1	1	3	3	3	2	3	5	0	1	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133152421G>A	ENST00000388996.4	-	11	1890	c.1470C>T	c.(1468-1470)gcC>gcT	p.A490A	KCNQ3_ENST00000519445.1_Silent_p.A490A|KCNQ3_ENST00000521134.1_Silent_p.A370A	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	490					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CACCTGTCCCGGCATCTGGGA	0.602													A	133152421	G	A	133152421	2	1	364	1	0	0	0	0	0	0	0	1	8142	1103	39	1		1	KCNQ3	8	133152421	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1960879	133152421	13211601	6982	30484											
KCNQ3	3786	broad.mit.edu	37	chr8	133153429	133153429	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggaaggccgtgcggaaaCgctctttattgtttaagcca	9	11	12	9	4	1	0	0	0	1	0	1	2	1	2	2	3	4	2	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133153429C>T	ENST00000388996.4	-	10	1832	c.1412G>A	c.(1411-1413)cGt>cAt	p.R471H	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R471H|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R351H	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	471					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CGTGCGGAAACGCTCTTTATT	0.453													T	133153429	C	T	133153429	3	4	364	1	0	0	0	0	1	0	0	0	8142	536	19	1	1230	1	KCNQ3	8	133153429	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1008	133153429	13210593	6983	30485											
KCNQ3	3786	broad.mit.edu	37	chr8	133182641	133182641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgccaccaggtcaatcCtgttggggttggtagcataa	9	11	12	9	1	1	0	1	0	0	0	3	0	2	0	3	4	1	4	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133182641C>T	ENST00000388996.4	-	8	1595	c.1175G>A	c.(1174-1176)aGg>aAg	p.R392K	KCNQ3_ENST00000519445.1_Missense_Mutation_p.R392K|KCNQ3_ENST00000521134.1_Missense_Mutation_p.R272K	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	392					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CAGGTCAATCCTGTTGGGGTT	0.532													T	133182641	C	T	133182641	3	4	364	1	0	0	0	0	1	0	0	0	8142	681	24	2	1475	2	KCNQ3	8	133182641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29212	133182641	13181381	6984	30486											
KCNQ3	3786	broad.mit.edu	37	chr8	133192544	133192544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccttggtttcccacagcaaCcactggcacagaggcaatca	11	7	9	14	0	1	1	1	0	0	1	2	1	2	1	3	3	2	4	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133192544C>T	ENST00000388996.4	-	4	1057	c.637G>A	c.(637-639)Gtt>Att	p.V213I	KCNQ3_ENST00000519445.1_Missense_Mutation_p.V213I|KCNQ3_ENST00000521134.1_Missense_Mutation_p.V93I	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	213					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			CCCACAGCAACCACTGGCACA	0.582													T	133192544	C	T	133192544	3	4	364	1	0	0	0	0	1	0	0	0	8142	507	18	2	2029	2	KCNQ3	8	133192544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9903	133192544	13171478	6985	30487											
PHF20L1	51105	broad.mit.edu	37	chr8	133816941	133816941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagaggaaaaataatcaagGcaactcgtttcaggcaaaga	19	6	9	7	1	2	2	2	0	0	2	3	3	2	3	0	3	1	3	0	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133816941G>A	ENST00000395386.2	+	8	1102	c.803G>A	c.(802-804)gGc>gAc	p.G268D	PHF20L1_ENST00000395376.1_Missense_Mutation_p.G273D|PHF20L1_ENST00000220847.7_5'UTR|PHF20L1_ENST00000395390.2_Missense_Mutation_p.G243D|PHF20L1_ENST00000395379.1_Missense_Mutation_p.G268D|PHF20L1_ENST00000337920.4_Missense_Mutation_p.G242D	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	268							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			AATAATCAAGGCAACTCGTTT	0.383													A	133816941	G	A	133816941	3	1	364	1	0	0	0	0	1	0	0	0	11909	1203	42	2	829	2	PHF20L1	8	133816941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	624397	133816941	12547081	6986	30488											
PHF20L1	51105	broad.mit.edu	37	chr8	133854807	133854807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcttgttccgggaagcGaaaagaccaagatcaaataa	15	7	11	8	2	1	2	1	0	0	2	2	4	2	3	2	2	1	2	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854807G>A	ENST00000395386.2	+	19	2734	c.2435G>A	c.(2434-2436)cGa>cAa	p.R812Q	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.R199Q|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.R787Q	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	812							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TCCGGGAAGCGAAAAGACCAA	0.348													A	133854807	G	A	133854807	3	1	364	1	0	0	0	0	1	0	0	0	11909	1058	37	1	2601	1	PHF20L1	8	133854807	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37866	133854807	12509215	6987	30489											
PHF20L1	51105	broad.mit.edu	37	chr8	133854893	133854893	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaagaaatatgtacagAaccataaagaaccacctcgt	21	6	6	8	1	0	4	0	0	0	4	1	4	0	4	3	0	3	1	3	0	10	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854893A>C	ENST00000395386.2	+	19	2820	c.2521A>C	c.(2521-2523)Aac>Cac	p.N841H	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Missense_Mutation_p.N228H|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Missense_Mutation_p.N816H	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	841							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			ATATGTACAGAACCATAAAGA	0.383													C	133854893	A	C	133854893	3	2	364	1	0	0	0	0	1	0	0	0	11909	246	9	5	2687	5	PHF20L1	8	133854893	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86	133854893	12509129	6988	30490											
PHF20L1	51105	broad.mit.edu	37	chr8	133854925	133854925	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctcgtttgcccctaaaAatggaaggaacttatataac	14	10	6	11	1	0	0	0	0	0	0	1	2	0	2	4	2	3	1	4	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133854925A>G	ENST00000395386.2	+	19	2852	c.2553A>G	c.(2551-2553)aaA>aaG	p.K851K	AF230666.2_ENST00000429151.1_RNA|PHF20L1_ENST00000220847.7_Silent_p.K238K|AF230666.2_ENST00000608375.1_RNA|PHF20L1_ENST00000395390.2_Silent_p.K826K	NM_016018.4	NP_057102.4	A8MW92	P20L1_HUMAN	PHD finger protein 20-like 1	851							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(10)|ovary(2)	15	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			TGCCCCTAAAAATGGAAGGAA	0.403													G	133854925	A	G	133854925	2	3	364	1	0	0	0	0	0	0	0	1	11909	11	1	3		3	PHF20L1	8	133854925	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32	133854925	12509097	6989	30491											
TG	7038	broad.mit.edu	37	chr8	133899498	133899498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgacagaaggaagctatgaGgatgtccaatgcttttccgg	12	9	12	8	2	0	2	0	1	0	1	2	5	2	4	2	3	2	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133899498G>T	ENST00000220616.4	+	9	1921	c.1881G>T	c.(1879-1881)gaG>gaT	p.E627D	TG_ENST00000377869.1_Missense_Mutation_p.E627D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	627	Thyroglobulin type-1 5.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAAGCTATGAGGATGTCCAAT	0.522													T	133899498	G	T	133899498	3	4	364	1	0	0	0	0	1	0	0	0	15913	991	35	4	1915	4	TG	8	133899498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44573	133899498	12464524	6990	30492											
TG	7038	broad.mit.edu	37	chr8	133900548	133900548	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggctggccagcaagatgtCttcccggtgctgtcacaata	9	9	12	11	1	2	1	1	0	1	1	3	2	3	1	2	3	2	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133900548C>T	ENST00000220616.4	+	10	2536	c.2496C>T	c.(2494-2496)gtC>gtT	p.V832V	TG_ENST00000377869.1_Silent_p.V832V	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	832	Thyroglobulin type-1 7.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		AGCAAGATGTCTTCCCGGTGC	0.527													T	133900548	C	T	133900548	2	4	364	1	0	0	0	0	0	0	0	1	15913	900	32	2		2	TG	8	133900548	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1050	133900548	12463474	6991	30493											
TG	7038	broad.mit.edu	37	chr8	133935689	133935689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggccttctgtgtggaCggcgaggggcggaggctgcc	5	6	21	9	3	1	0	0	0	1	0	1	4	1	3	2	8	1	1	2	8	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133935689C>T	ENST00000220616.4	+	22	4675	c.4635C>T	c.(4633-4635)gaC>gaT	p.D1545D	TG_ENST00000542445.1_5'UTR|TG_ENST00000377869.1_Intron	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1545	Thyroglobulin type-1 11.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity	p.D1545D(1)		NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCTGTGTGGACGGCGAGGGGC	0.592													T	133935689	C	T	133935689	2	4	364	1	0	0	0	0	0	0	0	1	15913	535	19	1		1	TG	8	133935689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35141	133935689	12428333	6992	30494											
TG	7038	broad.mit.edu	37	chr8	133961178	133961178	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgtcttggagaccaggaGttcatcaagagtaagtcttt	10	13	11	7	1	4	2	2	0	2	2	4	4	4	3	1	2	1	2	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:133961178G>T	ENST00000220616.4	+	27	5431	c.5391G>T	c.(5389-5391)gaG>gaT	p.E1797D	TG_ENST00000542445.1_Missense_Mutation_p.E167D|TG_ENST00000377869.1_Missense_Mutation_p.E1740D	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1797					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GAGACCAGGAGTTCATCAAGA	0.478													T	133961178	G	T	133961178	3	4	364	1	0	0	0	0	1	0	0	0	15913	1020	36	4	5497	4	TG	8	133961178	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25489	133961178	12402844	6993	30495											
TG	7038	broad.mit.edu	37	chr8	134024203	134024203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggttgttgatccatccaTtaggcactttgatgttgccc	7	15	10	9	0	0	2	0	2	0	0	2	2	2	2	3	2	1	4	3	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134024203T>G	ENST00000220616.4	+	36	6360	c.6320T>G	c.(6319-6321)aTt>aGt	p.I2107S	TG_ENST00000522523.1_3'UTR|TG_ENST00000542445.1_Missense_Mutation_p.I477S|TG_ENST00000519543.1_Missense_Mutation_p.I240S|TG_ENST00000377869.1_Missense_Mutation_p.I2050S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2107					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		GATCCATCCATTAGGCACTTT	0.537													G	134024203	T	G	134024203	3	3	364	1	0	0	0	0	1	0	0	0	15913	1493	52	5	6462	5	TG	8	134024203	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63025	134024203	12339819	6994	30496											
SLA	6503	broad.mit.edu	37	chr8	134050923	134050923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctctcgaaggccatagCtgaaaagggactcgtctacc	10	9	10	12	2	2	1	0	1	2	0	5	3	2	2	2	2	3	2	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134050923C>A	ENST00000338087.5	-	9	1496	c.677G>T	c.(676-678)aGc>aTc	p.S226I	SLA_ENST00000524345.1_Missense_Mutation_p.S118I|TG_ENST00000220616.4_Intron|SLA_ENST00000427060.2_Missense_Mutation_p.S266I|TG_ENST00000542445.1_Intron|SLA_ENST00000395352.3_Missense_Mutation_p.S243I|SLA_ENST00000517648.1_Missense_Mutation_p.S199I|TG_ENST00000519543.1_Intron|TG_ENST00000377869.1_Intron	NM_001045556.2	NP_001039021.1	Q13239	SLAP1_HUMAN	Src-like-adaptor	226	SLA C-terminal.					endosome	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(6)|prostate(1)|skin(1)	17	all_epithelial(106;3.51e-21)|Lung NSC(106;4.24e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0279)|Breast(495;0.037)	BRCA - Breast invasive adenocarcinoma(115;0.000701)			AAGGCCATAGCTGAAAAGGGA	0.512													A	134050923	C	A	134050923	3	1	364	1	0	0	0	0	1	0	0	0	14457	797	28	4	157	4	SLA	8	134050923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26720	134050923	12313099	6995	30497											
WISP1	8840	broad.mit.edu	37	chr8	134225108	134225108	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgccctccccccgcaggCcctctctccagcccctacga	4	7	6	24	2	2	0	0	0	2	0	5	1	4	0	8	1	3	1	8	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134225108C>T	ENST00000250160.6	+	2	177	c.71C>T	c.(70-72)gCc>gTc	p.A24V	WISP1_ENST00000220856.6_Splice_Site_p.A24V|WISP1_ENST00000519433.1_Intron|WISP1_ENST00000377863.2_Intron|WISP1_ENST00000517423.1_Splice_Site_p.A24V	NM_003882.3	NP_003873.1	O95388	WISP1_HUMAN	WNT1 inducible signaling pathway protein 1	24					cell adhesion|cell-cell signaling|regulation of cell growth|Wnt receptor signaling pathway	extracellular region|soluble fraction	insulin-like growth factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	21	all_epithelial(106;5.39e-23)|Lung NSC(106;7.26e-07)|all_lung(105;2.77e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0107)			CCCCCGCAGGCCCTCTCTCCA	0.617													T	134225108	C	T	134225108	5	4	364	1	0	0	0	0	0	0	1	0	17474	753	26	2	77	2	WISP1	8	134225108	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174185	134225108	12138914	6996	30498											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488066	134488066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccaggccgagagcttgcGctgcccgatgcagtgggtgc	7	6	16	12	3	0	1	0	0	0	1	0	4	0	1	3	2	6	3	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:134488066G>A	ENST00000319914.5	-	4	1229	c.202C>T	c.(202-204)Cgc>Tgc	p.R68C	ST3GAL1_ENST00000399640.2_Missense_Mutation_p.R68C|ST3GAL1_ENST00000521180.1_Missense_Mutation_p.R68C|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.R68C			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	68					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			GAGAGCTTGCGCTGCCCGATG	0.612													A	134488066	G	A	134488066	3	1	364	1	0	0	0	0	1	0	0	0	15310	1087	38	1	844	1	ST3GAL1	8	134488066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262958	134488066	11875956	6997	30499											
ZFAT	57623	broad.mit.edu	37	chr8	135524755	135524755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtcctggagcgcggcCaccgctgcctgtgtcccttg	3	9	13	16	3	1	0	1	0	0	0	3	1	3	1	5	3	2	1	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135524755C>T	ENST00000520727.1	-	15	3587	c.3288G>A	c.(3286-3288)gtG>gtA	p.V1096V	ZFAT_ENST00000429442.2_Silent_p.V1096V|ZFAT_ENST00000523399.1_Silent_p.V1046V|ZFAT_ENST00000520356.1_Intron|ZFAT_ENST00000520214.1_Silent_p.V1096V|ZFAT_ENST00000377838.3_Silent_p.V1108V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	1108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GGAGCGCGGCCACCGCTGCCT	0.527													T	135524755	C	T	135524755	2	4	364	1	0	0	0	0	0	0	0	1	17733	581	21	2		2	ZFAT	8	135524755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1036689	135524755	10839267	6998	30500											
ZFAT	57623	broad.mit.edu	37	chr8	135614391	135614391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgcattcacgccctggaggGcaaactcctcttccaccagc	8	8	9	16	1	2	0	1	0	1	0	4	1	4	1	4	2	3	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135614391G>A	ENST00000520727.1	-	7	1834	c.1535C>T	c.(1534-1536)gCc>gTc	p.A512V	ZFAT_ENST00000429442.2_Missense_Mutation_p.A512V|ZFAT_ENST00000523399.1_Missense_Mutation_p.A462V|ZFAT_ENST00000520356.1_Missense_Mutation_p.A512V|ZFAT_ENST00000520214.1_Missense_Mutation_p.A512V|ZFAT_ENST00000377838.3_Missense_Mutation_p.A524V	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			GCCCTGGAGGGCAAACTCCTC	0.622													A	135614391	G	A	135614391	3	1	364	1	0	0	0	0	1	0	0	0	17733	1203	42	2	2204	2	ZFAT	8	135614391	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89636	135614391	10749631	6999	30501											
ZFAT	57623	broad.mit.edu	37	chr8	135649810	135649810	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttgctacactccaagctGcttggaggcaggctgttccc	7	10	10	14	0	0	0	0	0	0	0	2	1	2	1	2	3	4	6	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:135649810G>A	ENST00000520727.1	-	4	605	c.306C>T	c.(304-306)agC>agT	p.S102S	ZFAT_ENST00000429442.2_Silent_p.S102S|ZFAT_ENST00000523399.1_Silent_p.S114S|ZFAT_ENST00000520356.1_Silent_p.S102S|ZFAT_ENST00000520214.1_Silent_p.S102S|ZFAT_ENST00000377838.3_Silent_p.S114S	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	114			P -> S (in dbSNP:rs12541381).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ACTCCAAGCTGCTTGGAGGCA	0.572													A	135649810	G	A	135649810	2	1	364	1	0	0	0	0	0	0	0	1	17733	1310	46	2		2	ZFAT	8	135649810	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35419	135649810	10714212	7000	30502											
FAM135B	51059	broad.mit.edu	37	chr8	139155321	139155321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatccaataaccgatccGtcatagtatcaaaatctgca	14	12	4	11	2	4	0	3	0	1	0	6	1	6	0	3	0	2	2	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139155321G>A	ENST00000395297.1	-	16	3742	c.3572C>T	c.(3571-3573)aCg>aTg	p.T1191M		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1191										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TAACCGATCCGTCATAGTATC	0.463										HNSCC(54;0.14)			A	139155321	G	A	139155321	3	1	364	1	0	0	0	0	1	0	0	0	5494	1145	40	1	668	1	FAM135B	8	139155321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3505511	139155321	7208701	7001	30503											
FAM135B	51059	broad.mit.edu	37	chr8	139158255	139158255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctccagggagccccagttCtatgaaagtctttaccagcc	9	10	8	14	0	2	1	0	1	2	0	4	2	4	2	6	1	3	1	6	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139158255C>T	ENST00000395297.1	-	15	3657	c.3487G>A	c.(3487-3489)Gaa>Aaa	p.E1163K		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1163								p.E1163*(4)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			AGCCCCAGTTCTATGAAAGTC	0.448										HNSCC(54;0.14)			T	139158255	C	T	139158255	3	4	364	1	0	0	0	0	1	0	0	0	5494	922	32	2	757	2	FAM135B	8	139158255	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2934	139158255	7205767	7002	30504											
COL22A1	169044	broad.mit.edu	37	chr8	139788214	139788214	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagactataaataccttttCtcctcgagttcccttttcac	9	15	4	13	1	2	1	1	0	1	1	5	2	3	1	3	0	1	2	3	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:139788214C>A	ENST00000303045.6	-	16	2244	c.1798G>T	c.(1798-1800)Gaa>Taa	p.E600*	COL22A1_ENST00000435777.1_Nonsense_Mutation_p.E600*	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	600	Collagen-like 3.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			AATACCTTTTCTCCTCGAGTT	0.483										HNSCC(7;0.00092)			A	139788214	C	A	139788214	4	1	364	1	0	0	0	0	0	1	0	0	3712	922	32	4	3282	4	COL22A1	8	139788214	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	629959	139788214	6575808	7003	30505											
KCNK9	51305	broad.mit.edu	37	chr8	140631313	140631313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaaggccttgcccgCatcggtgccaggtgcagcgt	7	7	14	13	3	0	1	0	0	0	1	1	1	0	1	3	3	5	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:140631313C>T	ENST00000520439.1	-	2	376	c.313G>A	c.(313-315)Gcg>Acg	p.A105T	KCNK9_ENST00000303015.1_Missense_Mutation_p.A105T	NM_001282534.1	NP_001269463.1	Q9NPC2	KCNK9_HUMAN	potassium channel, subfamily K, member 9	105						integral to membrane|membrane fraction	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(9)|kidney(1)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)	43	all_cancers(97;3.94e-14)|all_epithelial(106;4.81e-13)|Lung NSC(106;8.18e-05)|all_lung(105;0.00015)|Ovarian(258;0.00235)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;0.134)	BRCA - Breast invasive adenocarcinoma(115;0.0855)			GCCTTGCCCGCATCGGTGCCA	0.607													T	140631313	C	T	140631313	3	4	364	1	0	0	0	0	1	0	0	0	8130	710	25	2	815	2	KCNK9	8	140631313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	843099	140631313	5732709	7004	30506											
TRAPPC9	83696	broad.mit.edu	37	chr8	141381153	141381153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctccacccaggctccgCgatgcttggggccacgcact	5	6	12	18	3	0	0	0	0	0	0	2	1	2	0	5	4	1	3	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381153C>T	ENST00000389328.4	-	8	1569	c.1555G>A	c.(1555-1557)Gcg>Acg	p.A519T	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.A421T|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A412T	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	421					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CCAGGCTCCGCGATGCTTGGG	0.597													T	141381153	C	T	141381153	3	4	364	1	0	0	0	0	1	0	0	0	16566	768	27	1	2249	1	TRAPPC9	8	141381153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	749840	141381153	4982869	7005	30507											
TRAPPC9	83696	broad.mit.edu	37	chr8	141381168	141381168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgatgcttggggccaCgcactgcatggcggccacgc	5	6	14	16	5	0	0	0	0	0	0	1	1	1	0	3	4	2	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381168C>T	ENST00000389328.4	-	8	1554	c.1540G>A	c.(1540-1542)Gtg>Atg	p.V514M	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.V416M|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.V407M	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	416					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CTTGGGGCCACGCACTGCATG	0.587													T	141381168	C	T	141381168	3	4	364	1	0	0	0	0	1	0	0	0	16566	536	19	1	2264	1	TRAPPC9	8	141381168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15	141381168	4982854	7006	30508											
TRAPPC9	83696	broad.mit.edu	37	chr8	141381188	141381188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactgcatggcggccacgCgcttgaagaacgcagacttg	9	6	13	13	5	0	3	0	1	0	2	0	3	0	3	1	2	2	4	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141381188C>T	ENST00000389328.4	-	8	1534	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H	TRAPPC9_ENST00000438773.2_Missense_Mutation_p.R409H|TRAPPC9_ENST00000389327.3_Missense_Mutation_p.R400H	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	409					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						GGCGGCCACGCGCTTGAAGAA	0.592													T	141381188	C	T	141381188	3	4	364	1	0	0	0	0	1	0	0	0	16566	768	27	1	2284	1	TRAPPC9	8	141381188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	141381188	4982834	7007	30509											
PTK2	5747	broad.mit.edu	37	chr8	141711023	141711023	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttccagccagcgctgAtcttcttccatttcctgttg	4	18	6	13	1	3	1	0	1	3	0	6	1	6	1	4	0	2	2	4	0	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141711023A>G	ENST00000522684.1	-	26	2695	c.2466T>C	c.(2464-2466)gaT>gaC	p.D822D	PTK2_ENST00000430260.2_Silent_p.D132D|PTK2_ENST00000521059.1_Silent_p.D822D|PTK2_ENST00000535192.1_Silent_p.D776D|PTK2_ENST00000538769.1_Silent_p.D490D|PTK2_ENST00000519419.1_Silent_p.D866D|PTK2_ENST00000517887.1_Silent_p.D866D|PTK2_ENST00000340930.3_Silent_p.D822D|PTK2_ENST00000395218.2_Silent_p.D822D|PTK2_ENST00000519465.1_Silent_p.D450D	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	822	Interaction with TGFB1I1.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GCCAGCGCTGATCTTCTTCCA	0.438													G	141711023	A	G	141711023	2	3	364	1	0	0	0	0	0	0	0	1	12848	330	12	3		3	PTK2	8	141711023	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	329835	141711023	4652999	7008	30510											
PTK2	5747	broad.mit.edu	37	chr8	141889570	141889570	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcaggtttgtatcttacTtccactcctctggtgggtga	8	14	10	9	0	2	1	0	1	2	0	4	1	4	1	2	3	2	3	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:141889570T>A	ENST00000519881.1	-	3	553	c.362A>T	c.(361-363)aAg>aTg	p.K121M	PTK2_ENST00000521059.1_Splice_Site_p.K121I|PTK2_ENST00000535192.1_Splice_Site_p.K121I|PTK2_ENST00000519419.1_Splice_Site_p.K165I|PTK2_ENST00000517887.1_Splice_Site_p.K165I|PTK2_ENST00000520892.1_Missense_Mutation_p.K121M|PTK2_ENST00000522684.1_Splice_Site_p.K121I|PTK2_ENST00000340930.3_Splice_Site_p.K121I|PTK2_ENST00000395218.2_Splice_Site_p.K121I			Q05397	FAK1_HUMAN	protein tyrosine kinase 2	121	FERM.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			TGTATCTTACTTCCACTCCTC	0.438													A	141889570	T	A	141889570	3	1	364	1	0	0	0	0	1	0	0	0	12848	1623	56	5	2912	5	PTK2	8	141889570	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178547	141889570	4474452	7009	30511											
DENND3	22898	broad.mit.edu	37	chr8	142175310	142175310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacctacatgttccattCttttcttaaagcccggctca	10	13	5	13	1	3	1	1	0	2	1	4	1	4	1	3	1	2	2	3	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142175310C>A	ENST00000519811.1	+	11	1545	c.1475C>A	c.(1474-1476)tCt>tAt	p.S492Y	DENND3_ENST00000424248.1_Missense_Mutation_p.S360Y|DENND3_ENST00000262585.2_Missense_Mutation_p.S412Y			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	412										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGTTCCATTCTTTTCTTAAA	0.557													A	142175310	C	A	142175310	3	1	364	1	0	0	0	0	1	0	0	0	4471	913	32	4	1273	4	DENND3	8	142175310	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285740	142175310	4188712	7010	30512											
DENND3	22898	broad.mit.edu	37	chr8	142176404	142176404	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtcagcatgcccaacctgCaggacattgccatgcctgag	9	8	11	13	0	1	1	1	1	0	0	1	2	1	2	4	2	6	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142176404C>T	ENST00000519811.1	+	12	1739	c.1669C>T	c.(1669-1671)Cag>Tag	p.Q557*	DENND3_ENST00000424248.1_Nonsense_Mutation_p.Q425*|DENND3_ENST00000262585.2_Nonsense_Mutation_p.Q477*			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	477										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCCAACCTGCAGGACATTGC	0.642													T	142176404	C	T	142176404	4	4	364	1	0	0	0	0	0	1	0	0	4471	711	25	2	1471	2	DENND3	8	142176404	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1094	142176404	4187618	7011	30513											
PTP4A3	11156	broad.mit.edu	37	chr8	142435204	142435204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgaagtgacctatgaCaaaacgccgctggagaagga	13	7	14	7	2	0	4	0	3	0	1	0	6	0	5	2	2	1	1	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:142435204C>T	ENST00000520105.1	+	3	1105	c.162C>T	c.(160-162)gaC>gaT	p.D54D	PTP4A3_ENST00000524028.1_Intron|PTP4A3_ENST00000521578.1_Silent_p.D54D|PTP4A3_ENST00000349124.1_Silent_p.D54D|PTP4A3_ENST00000329397.1_Silent_p.D54D			O75365	TP4A3_HUMAN	protein tyrosine phosphatase type IVA, member 3	54						early endosome|plasma membrane	identical protein binding|prenylated protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(2)|large_intestine(1)|lung(3)	6	all_cancers(97;2.55e-15)|all_epithelial(106;1.39e-13)|Lung NSC(106;2.07e-05)|all_lung(105;2.89e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0474)			TGACCTATGACAAAACGCCGC	0.672													T	142435204	C	T	142435204	2	4	364	1	0	0	0	0	0	0	0	1	12858	477	17	2		2	PTP4A3	8	142435204	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258800	142435204	3928818	7012	30514											
TSNARE1	203062	broad.mit.edu	37	chr8	143310941	143310941	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcttgtgtctctggagCtgggagagagagagaggttg	8	12	17	4	0	2	4	0	1	2	3	3	8	2	5	0	3	1	2	0	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143310941C>A	ENST00000524325.1	-	13	1619		c.e13-1		TSNARE1_ENST00000520166.1_Splice_Site|TSNARE1_ENST00000307180.3_Splice_Site			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1						vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GTCTCTGGAGCTGGGAGAGAG	0.537													A	143310941	C	A	143310941	5	1	364	1	0	0	0	0	0	0	1	0	16731	811	28	4	99	4	TSNARE1	8	143310941	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	875737	143310941	3053081	7013	30515											
BAI1	575	broad.mit.edu	37	chr8	143623496	143623496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcccggcgggcccctgcccGacttccccaaccactcactg	6	6	8	21	3	1	0	1	0	0	0	3	1	3	0	7	2	2	0	7	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143623496G>A	ENST00000517894.1	+	28	4795	c.3901G>A	c.(3901-3903)Gac>Aac	p.D1301N	BAI1_ENST00000323289.5_Missense_Mutation_p.D1301N			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1301					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					GCCCCTGCCCGACTTCCCCAA	0.647													A	143623496	G	A	143623496	3	1	364	1	0	0	0	0	1	0	0	0	1303	1058	37	1	4007	1	BAI1	8	143623496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	312555	143623496	2740526	7014	30516											
LY6K	54742	broad.mit.edu	37	chr8	143784766	143784766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgctgctggcctccattGcagccggcctcagcctgtct	3	11	10	17	1	2	0	1	0	1	0	4	0	4	0	6	2	5	3	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143784766G>A	ENST00000292430.6	+	3	892	c.475G>A	c.(475-477)Gca>Aca	p.A159T	LY6K_ENST00000519390.1_3'UTR|LY6K_ENST00000522591.1_3'UTR|LY6K_ENST00000519387.1_3'UTR|LY6K_ENST00000561179.1_Missense_Mutation_p.A217T|CTD-2292P10.4_ENST00000520572.1_RNA			Q17RY6	LY6K_HUMAN	lymphocyte antigen 6 complex, locus K	159						anchored to membrane|cytoplasm|extracellular region|nucleolus|plasma membrane				NS(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)	10	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGCCTCCATTGCAGCCGGCCT	0.577													A	143784766	G	A	143784766	3	1	364	1	0	0	0	0	1	0	0	0	9169	1319	46	2	635	2	LY6K	8	143784766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161270	143784766	2579256	7015	30517											
GML	2765	broad.mit.edu	37	chr8	143922552	143922552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggacttacagtttgagatGccatgactgtgcggtcataa	11	11	12	7	1	1	2	1	2	0	1	1	4	1	3	1	2	3	1	1	2	2	3	rs45437692		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143922552G>A	ENST00000220940.1	+	3	182	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	31	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					AGTTTGAGATGCCATGACTGT	0.478													A	143922552	G	A	143922552	3	1	364	1	0	0	0	0	1	0	0	0	6548	1319	46	2	98	2	GML	8	143922552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137786	143922552	2441470	7016	30518											
CYP11B1	1584	broad.mit.edu	37	chr8	143955889	143955889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttagtgtctccacctggAggtgtttcagcacctaggac	7	11	13	10	0	2	0	1	0	1	0	3	2	2	2	3	4	1	3	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143955889A>G	ENST00000292427.4	-	9	1444	c.1412T>C	c.(1411-1413)cTc>cCc	p.L471P	CYP11B1_ENST00000517471.1_Missense_Mutation_p.L405P|CYP11B1_ENST00000377675.3_Missense_Mutation_p.L542P	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	471					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CTCCACCTGGAGGTGTTTCAG	0.532									Familial Hyperaldosteronism type I				G	143955889	A	G	143955889	3	3	364	1	0	0	0	0	1	0	0	0	4178	304	11	3	103	3	CYP11B1	8	143955889	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33337	143955889	2408133	7017	30519											
CYP11B1	1584	broad.mit.edu	37	chr8	143957747	143957747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaggagctccgccacgatGctggtgtactgttgagggcg	8	8	15	10	3	0	1	0	1	0	0	1	3	1	2	2	3	4	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:143957747G>A	ENST00000292427.4	-	5	896	c.864C>T	c.(862-864)agC>agT	p.S288S	CYP11B1_ENST00000517471.1_Silent_p.S288S|CYP11B1_ENST00000377675.3_Silent_p.S359S	NM_000497.3	NP_000488.3	P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	288					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	CCGCCACGATGCTGGTGTACT	0.587									Familial Hyperaldosteronism type I				A	143957747	G	A	143957747	2	1	364	1	0	0	0	0	0	0	0	1	4178	1310	46	2		2	CYP11B1	8	143957747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1858	143957747	2406275	7018	30520											
LY6E	4061	broad.mit.edu	37	chr8	144102376	144102376	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagatcttcttgccagTgctgctggctgcccttctgg	6	13	11	11	0	3	2	0	1	3	1	3	2	3	2	2	2	4	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144102376T>G	ENST00000520466.1	+	3	423	c.20T>G	c.(19-21)gTg>gGg	p.V7G	LY6E_ENST00000522024.1_Missense_Mutation_p.V7G|LY6E_ENST00000522971.1_Missense_Mutation_p.V7G|LY6E_ENST00000519546.1_Missense_Mutation_p.V7G|LY6E_ENST00000519611.1_Missense_Mutation_p.V7G|LY6E_ENST00000292494.6_Missense_Mutation_p.V7G|LY6E_ENST00000523847.1_Missense_Mutation_p.V7G|LY6E_ENST00000520531.1_Missense_Mutation_p.V7G|LY6E_ENST00000521699.1_Missense_Mutation_p.V7G|LY6E_ENST00000522528.1_Missense_Mutation_p.V7G|LY6E_ENST00000521003.1_Missense_Mutation_p.V7G|LY6E_ENST00000517503.1_Missense_Mutation_p.S101R|LY6E_ENST00000521182.1_Missense_Mutation_p.V7G|LY6E_ENST00000429120.2_Missense_Mutation_p.V7G			Q16553	LY6E_HUMAN	lymphocyte antigen 6 complex, locus E	7					cell surface receptor linked signaling pathway	anchored to membrane|integral to plasma membrane				endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7	all_cancers(97;1.94e-10)|all_epithelial(106;1.22e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					TTCTTGCCAGTGCTGCTGGCT	0.612													G	144102376	T	G	144102376	3	3	364	1	0	0	0	0	1	0	0	0	9162	1696	59	5	22	5	LY6E	8	144102376	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	144629	144102376	2261646	7019	30521											
TOP1MT	116447	broad.mit.edu	37	chr8	144400187	144400187	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaacacgagccggcttaCggtcagcctgtcgaagaggt	11	6	14	10	4	1	1	1	0	0	1	2	4	1	2	2	4	4	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144400187C>T	ENST00000523676.1	-	10	1327		c.e10+1		TOP1MT_ENST00000329245.4_Splice_Site|TOP1MT_ENST00000521193.1_Splice_Site|TOP1MT_ENST00000519148.1_Splice_Site			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial						DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	AGCCGGCTTACGGTCAGCCTG	0.582													T	144400187	C	T	144400187	5	4	364	1	0	0	0	0	0	0	1	0	16465	550	19	1	613	1	TOP1MT	8	144400187	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	297811	144400187	1963835	7020	30522											
RHPN1	114822	broad.mit.edu	37	chr8	144459625	144459625	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactggtctacaccgctgaaGgtaggtactggcctccaagc	9	8	12	12	1	1	1	0	1	1	0	2	2	2	1	3	4	3	3	3	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144459625G>T	ENST00000289013.6	+	4	482	c.381G>T	c.(379-381)aaG>aaT	p.K127N		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	127	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			CACCGCTGAAGGTAGGTACTG	0.582													T	144459625	G	T	144459625	5	4	364	1	0	0	0	0	0	0	1	0	13439	1014	35	4	395	4	RHPN1	8	144459625	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59438	144459625	1904397	7021	30523											
ZC3H3	23144	broad.mit.edu	37	chr8	144621170	144621170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtttaactttgatgaccaCgttctgaccctgactgagct	8	13	9	11	2	1	5	0	5	1	0	1	5	1	5	2	1	2	3	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621170C>T	ENST00000262577.5	-	2	398	c.367G>A	c.(367-369)Gtg>Atg	p.V123M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	123					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			TTGATGACCACGTTCTGACCC	0.617													T	144621170	C	T	144621170	3	4	364	1	0	0	0	0	1	0	0	0	17670	536	19	1	2523	1	ZC3H3	8	144621170	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161545	144621170	1742852	7022	30524											
ZC3H3	23144	broad.mit.edu	37	chr8	144621219	144621219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcaaggacatgctgctgCgggacaggaggctggccccc	7	6	14	14	1	1	0	1	0	1	0	2	3	1	3	2	5	3	3	2	5	1	0	rs150401031	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144621219C>T	ENST00000262577.5	-	2	349	c.318G>A	c.(316-318)ccG>ccA	p.P106P		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	106					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CATGCTGCTGCGGGACAGGAG	0.632													T	144621219	C	T	144621219	2	4	364	1	0	0	0	0	0	0	0	1	17670	755	27	1		1	ZC3H3	8	144621219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49	144621219	1742803	7023	30525											
EEF1D	1936	broad.mit.edu	37	chr8	144663400	144663400	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggcccggggcctcaccGccacgcagactctggttctc	5	7	11	18	3	3	1	1	0	2	1	4	1	3	1	4	4	0	2	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144663400G>A	ENST00000532741.1	-	4	1764	c.1536C>T	c.(1534-1536)ggC>ggT	p.G512G	EEF1D_ENST00000528610.1_Splice_Site_p.G72G|EEF1D_ENST00000524624.1_Splice_Site_p.G72G|EEF1D_ENST00000529272.1_Splice_Site_p.G96G|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000442189.2_Splice_Site_p.G462G|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000423316.2_Splice_Site_p.G462G|EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Splice_Site_p.G96G|EEF1D_ENST00000419152.2_Splice_Site_p.G96G|EEF1D_ENST00000395119.3_Splice_Site_p.G96G			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	96					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGCCTCACCGCCACGCAGAC	0.687													A	144663400	G	A	144663400	5	1	364	1	0	0	0	0	0	0	1	0	4965	1101	38	1	577	1	EEF1D	8	144663400	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42181	144663400	1700622	7024	30526											
TIGD5	84948	broad.mit.edu	37	chr8	144681088	144681088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaggaatttgtcccaGgcgtcaaacgctacctgcgc	8	11	10	12	3	2	1	1	1	1	0	3	2	3	2	2	2	3	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144681088G>T	ENST00000321385.3	+	1	1015	c.868G>T	c.(868-870)Ggc>Tgc	p.G290C	TIGD5_ENST00000504548.2_Missense_Mutation_p.G339C			E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	339					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			ATTTGTCCCAGGCGTCAAACG	0.677													T	144681088	G	T	144681088	3	4	364	1	0	0	0	0	1	0	0	0	15999	1000	35	4	1017	4	TIGD5	8	144681088	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17688	144681088	1682934	7025	30527											
PYCRL	65263	broad.mit.edu	37	chr8	144689168	144689168	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagccacggacaccaaGatgtgttcagtggtgaccac	11	6	11	13	1	1	2	1	1	0	1	1	3	1	3	4	2	2	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144689168G>T	ENST00000220966.6	-	3	356	c.327C>A	c.(325-327)atC>atA	p.I109I	PYCRL_ENST00000495276.1_5'UTR|PYCRL_ENST00000377579.3_5'UTR	NM_023078.3	NP_075566.2	Q53H96	P5CR3_HUMAN	pyrroline-5-carboxylate reductase-like	97					proline biosynthetic process		pyrroline-5-carboxylate reductase activity			central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)	5	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			CGGACACCAAGATGTGTTCAG	0.612													T	144689168	G	T	144689168	2	4	364	1	0	0	0	0	0	0	0	1	12945	932	33	4		4	PYCRL	8	144689168	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8080	144689168	1674854	7026	30528											
ZNF707	286075	broad.mit.edu	37	chr8	144775881	144775881	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagagaccttgtgatcaTccagcttgggctcacaagaa	12	8	9	12	0	2	3	2	1	0	2	3	4	3	3	3	1	1	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144775881T>C	ENST00000532205.1	+	8	1196	c.297T>C	c.(295-297)caT>caC	p.H99H	ZNF707_ENST00000418203.2_Silent_p.H99H|ZNF707_ENST00000358656.4_Silent_p.H99H|ZNF707_ENST00000532158.1_Silent_p.H99H|ZNF707_ENST00000454097.1_Silent_p.H99H			Q96C28	ZN707_HUMAN	zinc finger protein 707	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CTTGTGATCATCCAGCTTGGG	0.592													C	144775881	T	C	144775881	2	2	364	1	0	0	0	0	0	0	0	1	18212	1432	50	3		3	ZNF707	8	144775881	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86713	144775881	1588141	7027	30529											
ZNF707	286075	broad.mit.edu	37	chr8	144776283	144776283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcgcgagaagcccttctgCtgcgaggcctgcgggcaggc	6	5	16	14	5	1	1	0	0	1	1	1	3	1	1	2	3	4	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144776283C>T	ENST00000532205.1	+	8	1598	c.699C>T	c.(697-699)tgC>tgT	p.C233C	ZNF707_ENST00000418203.2_Silent_p.C233C|ZNF707_ENST00000358656.4_Silent_p.C233C|ZNF707_ENST00000532158.1_Silent_p.C233C|ZNF707_ENST00000454097.1_Silent_p.C233C			Q96C28	ZN707_HUMAN	zinc finger protein 707	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGCCCTTCTGCTGCGAGGCCT	0.662													T	144776283	C	T	144776283	2	4	364	1	0	0	0	0	0	0	0	1	18212	805	28	2		2	ZNF707	8	144776283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	402	144776283	1587739	7028	30530											
FAM83H	286077	broad.mit.edu	37	chr8	144808233	144808233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagacctcgaagcggctgTacacgcgcttctccttgcgc	8	8	11	14	5	1	2	0	0	1	2	3	3	1	2	2	1	3	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808233T>C	ENST00000388913.3	-	5	3523	c.3398A>G	c.(3397-3399)tAc>tGc	p.Y1133C		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	1133					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GAAGCGGCTGTACACGCGCTT	0.701													C	144808233	T	C	144808233	3	2	364	1	0	0	0	0	1	0	0	0	5690	1638	57	3	145	3	FAM83H	8	144808233	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31950	144808233	1555789	7029	30531											
FAM83H	286077	broad.mit.edu	37	chr8	144808666	144808666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccgttctcctgcggcaCtgggaagccaccctcatcct	5	10	10	16	2	2	0	1	0	1	0	4	1	3	1	5	3	2	2	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144808666C>T	ENST00000388913.3	-	5	3090	c.2965G>A	c.(2965-2967)Gtg>Atg	p.V989M		NM_198488.3	NP_940890	Q6ZRV2	FA83H_HUMAN	family with sequence similarity 83, member H	989					biomineral tissue development					central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(12)|pancreas(1)|prostate(3)|urinary_tract(1)	21	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TCCTGCGGCACTGGGAAGCCA	0.697													T	144808666	C	T	144808666	3	4	364	1	0	0	0	0	1	0	0	0	5690	565	20	2	578	2	FAM83H	8	144808666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	433	144808666	1555356	7030	30532											
SCRIB	23513	broad.mit.edu	37	chr8	144893380	144893380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctctggtggcaggacggCcaggcggttgtccctcaagg	6	7	16	12	2	2	0	1	0	1	0	3	1	3	1	2	7	1	3	2	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144893380C>T	ENST00000356994.2	-	10	1048	c.1042G>A	c.(1042-1044)Gcc>Acc	p.A348T	SCRIB_ENST00000320476.3_Missense_Mutation_p.A348T|SCRIB_ENST00000377533.3_Missense_Mutation_p.A267T	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	348	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			GGCAGGACGGCCAGGCGGTTG	0.687													T	144893380	C	T	144893380	3	4	364	1	0	0	0	0	1	0	0	0	14030	739	26	2	4037	2	SCRIB	8	144893380	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84714	144893380	1470642	7031	30533											
PUF60	22827	broad.mit.edu	37	chr8	144898851	144898851	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaatgatttctgcatcctCctcctcgccttgtttctctt	5	17	5	14	1	2	1	0	1	2	0	7	2	5	1	4	0	1	2	4	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144898851C>A	ENST00000526683.1	-	12	2074	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	PUF60_ENST00000453551.2_Nonsense_Mutation_p.E464*|PUF60_ENST00000349157.6_Nonsense_Mutation_p.E490*|PUF60_ENST00000527197.1_Nonsense_Mutation_p.E461*|PUF60_ENST00000456095.2_Nonsense_Mutation_p.E478*|PUF60_ENST00000313352.7_Nonsense_Mutation_p.E447*	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	507	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TCTGCATCCTCCTCCTCGCCT	0.542													A	144898851	C	A	144898851	4	1	364	1	0	0	0	0	0	1	0	0	12912	864	30	4	164	4	PUF60	8	144898851	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5471	144898851	1465171	7032	30534											
EPPK1	83481	broad.mit.edu	37	chr8	144940270	144940270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggggtcgaagaagccCttggtgtcgtcgctggggtc	4	11	18	8	3	0	1	0	0	0	1	4	2	0	1	1	5	1	2	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940270C>A	ENST00000525985.1	-	2	7223	c.7152G>T	c.(7150-7152)aaG>aaT	p.K2384N				P58107	EPIPL_HUMAN	epiplakin 1	2384						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGAAGAAGCCCTTGGTGTCGT	0.647													A	144940270	C	A	144940270	3	1	364	1	0	0	0	0	1	0	0	0	5231	680	24	4	114	4	EPPK1	8	144940270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41419	144940270	1423752	7033	30535											
EPPK1	83481	broad.mit.edu	37	chr8	144940549	144940549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggatctcgccgcccacCacgcccgcggccacggcctc	4	5	10	22	6	1	0	0	0	1	0	4	1	2	1	7	3	0	0	7	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144940549C>T	ENST00000525985.1	-	2	6944	c.6873G>A	c.(6871-6873)gtG>gtA	p.V2291V				P58107	EPIPL_HUMAN	epiplakin 1	2291						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCCGCCCACCACGCCCGCGG	0.721													T	144940549	C	T	144940549	2	4	364	1	0	0	0	0	0	0	0	1	5231	581	21	2		2	EPPK1	8	144940549	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	279	144940549	1423473	7034	30536											
EPPK1	83481	broad.mit.edu	37	chr8	144941327	144941327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttgtgcagacagccccgtCtgtaggctgtttccagtggg	5	11	13	12	1	1	1	0	0	1	1	2	1	2	1	4	2	2	4	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941327C>T	ENST00000525985.1	-	2	6166	c.6095G>A	c.(6094-6096)aGa>aAa	p.R2032K				P58107	EPIPL_HUMAN	epiplakin 1	2032						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACAGCCCCGTCTGTAGGCTGT	0.602													T	144941327	C	T	144941327	3	4	364	1	0	0	0	0	1	0	0	0	5231	913	32	2	1171	2	EPPK1	8	144941327	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	778	144941327	1422695	7035	30537											
EPPK1	83481	broad.mit.edu	37	chr8	144941538	144941538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcctctcccgcagctcctCgttcaccaggcccacatcca	7	7	7	20	2	2	0	1	0	1	0	6	1	4	0	6	1	2	3	6	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144941538C>T	ENST00000525985.1	-	2	5955	c.5884G>A	c.(5884-5886)Gag>Aag	p.E1962K				P58107	EPIPL_HUMAN	epiplakin 1	1962						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CGCAGCTCCTCGTTCACCAGG	0.652													T	144941538	C	T	144941538	3	4	364	1	0	0	0	0	1	0	0	0	5231	893	31	1	1382	1	EPPK1	8	144941538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211	144941538	1422484	7036	30538											
EPPK1	83481	broad.mit.edu	37	chr8	144943348	144943348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccccctgtggccagctgCacctgcaggaggggcaagcc	8	4	13	16	0	0	0	0	0	0	0	0	1	0	1	5	4	4	4	5	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943348C>T	ENST00000525985.1	-	2	4145	c.4074G>A	c.(4072-4074)gtG>gtA	p.V1358V				P58107	EPIPL_HUMAN	epiplakin 1	1358						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGCCAGCTGCACCTGCAGGA	0.677													T	144943348	C	T	144943348	2	4	364	1	0	0	0	0	0	0	0	1	5231	697	25	2		2	EPPK1	8	144943348	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1810	144943348	1420674	7037	30539											
EPPK1	83481	broad.mit.edu	37	chr8	144943428	144943428	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagagggaggccctagAgtagggatctgggtacccgg	10	5	18	8	1	1	3	0	0	1	3	1	6	1	5	2	5	1	2	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144943428A>C	ENST00000525985.1	-	2	4065	c.3994T>G	c.(3994-3996)Tct>Gct	p.S1332A				P58107	EPIPL_HUMAN	epiplakin 1	1332						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GAGGCCCTAGAGTAGGGATCT	0.682													C	144943428	A	C	144943428	3	2	364	1	0	0	0	0	1	0	0	0	5231	304	11	5	3272	5	EPPK1	8	144943428	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	80	144943428	1420594	7038	30540											
EPPK1	83481	broad.mit.edu	37	chr8	144945427	144945427	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcagccctcagtgcctcCtcaacggagtgccccttgtt	7	9	9	16	1	2	0	2	0	0	0	3	1	3	1	5	1	5	2	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144945427C>A	ENST00000525985.1	-	2	2066	c.1995G>T	c.(1993-1995)gaG>gaT	p.E665D				P58107	EPIPL_HUMAN	epiplakin 1	665						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCAGTGCCTCCTCAACGGAGT	0.627													A	144945427	C	A	144945427	3	1	364	1	0	0	0	0	1	0	0	0	5231	680	24	4	5271	4	EPPK1	8	144945427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1999	144945427	1418595	7039	30541											
EPPK1	83481	broad.mit.edu	37	chr8	144947316	144947316	+	Missense_Mutation	SNP	G	G	T																															gctcctggcctggggcctggGgggcgtgccggctcccagcg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947316G>T	ENST00000525985.1	-	2	177	c.106C>A	c.(106-108)Ccc>Acc	p.P36T				P58107	EPIPL_HUMAN	epiplakin 1	36						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGGGCCTGGGGGGCGTGCCG	0.692													T	144947316	G	T	144947316	3	4	364	1	0	0	0	0	1	0	0	0	5231	1232	43	4	7160	4	EPPK1	8	144947316	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1889	144947316	1416706	7040	30542	72	2									
EPPK1	83481	broad.mit.edu	37	chr8	144947320	144947320	+	Silent	SNP	C	C	T																															ctggcctggggcctggggggCgtgccggctcccagcgtggc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144947320C>T	ENST00000525985.1	-	2	173	c.102G>A	c.(100-102)acG>acA	p.T34T				P58107	EPIPL_HUMAN	epiplakin 1	34						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTGGGGGGCGTGCCGGCTC	0.687													T	144947320	C	T	144947320	2	4	364	1	0	0	0	0	0	0	0	1	5231	755	27	1		1	EPPK1	8	144947320	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4	144947320	1416702	7041	30543	72	2									
PLEC	5339	broad.mit.edu	37	chr8	144993745	144993745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggggcccaccacgcccGccttcacggcctcgtggaca	5	5	12	19	5	1	0	1	0	0	0	3	1	1	1	5	4	0	1	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144993745G>A	ENST00000322810.4	-	32	10824	c.10655C>T	c.(10654-10656)gCg>gTg	p.A3552V	PLEC_ENST00000398774.2_Missense_Mutation_p.A3383V|PLEC_ENST00000345136.3_Missense_Mutation_p.A3415V|PLEC_ENST00000436759.2_Missense_Mutation_p.A3442V|PLEC_ENST00000357649.2_Missense_Mutation_p.A3419V|PLEC_ENST00000354958.2_Missense_Mutation_p.A3393V|PLEC_ENST00000527096.1_Missense_Mutation_p.A3438V|PLEC_ENST00000354589.3_Missense_Mutation_p.A3415V|PLEC_ENST00000356346.3_Missense_Mutation_p.A3401V	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3552	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CACCACGCCCGCCTTCACGGC	0.687													A	144993745	G	A	144993745	3	1	364	1	0	0	0	0	1	0	0	0	12129	1087	38	1	3403	1	PLEC	8	144993745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46425	144993745	1370277	7042	30544											
PLEC	5339	broad.mit.edu	37	chr8	144994814	144994814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccggtgccggcctgggcttCcaacagggccacggccatgt	5	6	14	16	3	0	0	0	0	0	0	1	0	1	0	6	5	2	1	6	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144994814C>T	ENST00000322810.4	-	32	9755	c.9586G>A	c.(9586-9588)Gaa>Aaa	p.E3196K	PLEC_ENST00000398774.2_Missense_Mutation_p.E3027K|PLEC_ENST00000345136.3_Missense_Mutation_p.E3059K|PLEC_ENST00000436759.2_Missense_Mutation_p.E3086K|PLEC_ENST00000357649.2_Missense_Mutation_p.E3063K|PLEC_ENST00000354958.2_Missense_Mutation_p.E3037K|PLEC_ENST00000527096.1_Missense_Mutation_p.E3082K|PLEC_ENST00000354589.3_Missense_Mutation_p.E3059K|PLEC_ENST00000356346.3_Missense_Mutation_p.E3045K	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3196	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCCTGGGCTTCCAACAGGGCC	0.662													T	144994814	C	T	144994814	3	4	364	1	0	0	0	0	1	0	0	0	12129	864	30	2	4472	2	PLEC	8	144994814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1069	144994814	1369208	7043	30545											
PLEC	5339	broad.mit.edu	37	chr8	144999605	144999605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacctgcctccgcaagcGctcggcctcctcctgcgcct	3	8	9	21	4	0	0	0	0	0	0	4	0	3	0	7	1	4	3	7	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:144999605G>A	ENST00000322810.4	-	31	5072	c.4903C>T	c.(4903-4905)Cgc>Tgc	p.R1635C	PLEC_ENST00000398774.2_Missense_Mutation_p.R1466C|PLEC_ENST00000345136.3_Missense_Mutation_p.R1498C|PLEC_ENST00000436759.2_Missense_Mutation_p.R1525C|PLEC_ENST00000357649.2_Missense_Mutation_p.R1502C|PLEC_ENST00000354958.2_Missense_Mutation_p.R1476C|PLEC_ENST00000527096.1_Missense_Mutation_p.R1521C|PLEC_ENST00000354589.3_Missense_Mutation_p.R1498C|PLEC_ENST00000356346.3_Missense_Mutation_p.R1484C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1635	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTCCGCAAGCGCTCGGCCTCC	0.731													A	144999605	G	A	144999605	3	1	364	1	0	0	0	0	1	0	0	0	12129	1087	38	1	9159	1	PLEC	8	144999605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4791	144999605	1364417	7044	30546											
PLEC	5339	broad.mit.edu	37	chr8	145001826	145001826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctccacctccacgtcccGctccccgtgccgctgctgca	3	7	9	22	5	0	0	0	0	0	0	4	0	4	0	7	0	3	5	7	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145001826G>A	ENST00000322810.4	-	27	4088	c.3919C>T	c.(3919-3921)Cgg>Tgg	p.R1307W	PLEC_ENST00000398774.2_Missense_Mutation_p.R1138W|PLEC_ENST00000345136.3_Missense_Mutation_p.R1170W|PLEC_ENST00000436759.2_Missense_Mutation_p.R1197W|PLEC_ENST00000357649.2_Missense_Mutation_p.R1174W|PLEC_ENST00000354958.2_Missense_Mutation_p.R1148W|PLEC_ENST00000527096.1_Missense_Mutation_p.R1193W|PLEC_ENST00000354589.3_Missense_Mutation_p.R1170W|PLEC_ENST00000356346.3_Missense_Mutation_p.R1156W	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1307	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCACGTCCCGCTCCCCGTGC	0.741													A	145001826	G	A	145001826	3	1	364	1	0	0	0	0	1	0	0	0	12129	1086	38	1	10159	1	PLEC	8	145001826	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2221	145001826	1362196	7045	30547											
PLEC	5339	broad.mit.edu	37	chr8	145004373	145004373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagcacacggagggcaCggcggcctcgctgccggagc	8	2	17	14	5	0	0	0	0	0	0	1	3	0	3	2	6	3	3	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145004373C>T	ENST00000322810.4	-	21	3131	c.2962G>A	c.(2962-2964)Gtg>Atg	p.V988M	PLEC_ENST00000398774.2_Missense_Mutation_p.V819M|PLEC_ENST00000345136.3_Missense_Mutation_p.V851M|PLEC_ENST00000436759.2_Missense_Mutation_p.V878M|PLEC_ENST00000357649.2_Missense_Mutation_p.V855M|PLEC_ENST00000354958.2_Missense_Mutation_p.V829M|PLEC_ENST00000527096.1_Missense_Mutation_p.V874M|PLEC_ENST00000354589.3_Missense_Mutation_p.V851M|PLEC_ENST00000356346.3_Missense_Mutation_p.V837M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	988	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						ACGGAGGGCACGGCGGCCTCG	0.716													T	145004373	C	T	145004373	3	4	364	1	0	0	0	0	1	0	0	0	12129	536	19	1	11140	1	PLEC	8	145004373	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2547	145004373	1359649	7046	30548											
PLEC	5339	broad.mit.edu	37	chr8	145011406	145011406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcatcctccccttctccCggggctgtggggaggcacag	6	7	13	15	2	1	0	0	0	1	0	4	1	3	1	4	5	1	3	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145011406C>T	ENST00000322810.4	-	4	849	c.680G>A	c.(679-681)cGg>cAg	p.R227Q	PLEC_ENST00000398774.2_Missense_Mutation_p.R58Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R90Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R117Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R94Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R68Q|PLEC_ENST00000527096.1_Missense_Mutation_p.R117Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R90Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R76Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	227	Actin-binding.|CH 1.|Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCCTTCTCCCGGGGCTGTGG	0.677													T	145011406	C	T	145011406	3	4	364	1	0	0	0	0	1	0	0	0	12129	652	23	1	13490	1	PLEC	8	145011406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7033	145011406	1352616	7047	30549											
PLEC	5339	broad.mit.edu	37	chr8	145016656	145016656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagacctccctcggcgAggcaaaggcgccccccgccc	8	2	11	20	4	0	1	0	0	0	1	2	2	1	1	6	3	1	2	6	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145016656A>G	ENST00000357649.2	-	1	36	c.28T>C	c.(28-30)Tcg>Ccg	p.S10P	PLEC_ENST00000398774.2_Intron|PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000354589.3_Intron|PLEC_ENST00000356346.3_Intron|PLEC_ENST00000322810.4_Intron	NM_201383.1	NP_958785.1	Q15149	PLEC_HUMAN	plectin	0	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCCTCGGCGAGGCAAAGGCG	0.751													G	145016656	A	G	145016656	3	3	364	1	0	0	0	0	1	0	0	0	12129	304	11	3	13871	3	PLEC	8	145016656	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5250	145016656	1347366	7048	30550											
PLEC	5339	broad.mit.edu	37	chr8	145024784	145024784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaagctgcggggccgccGgtccttcttggccaccatca	5	8	13	15	3	2	0	1	0	1	0	3	0	3	0	5	4	3	2	5	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145024784G>A	ENST00000322810.4	-	1	260	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	PLEC_ENST00000436759.2_Intron|PLEC_ENST00000354958.2_Intron|PLEC_ENST00000527096.1_Intron|PLEC_ENST00000356346.3_Intron	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	31	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	p.R31R(1)		NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGGGGCCGCCGGTCCTTCTTG	0.697													A	145024784	G	A	145024784	3	1	364	1	0	0	0	0	1	0	0	0	12129	1115	39	1	14471	1	PLEC	8	145024784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8128	145024784	1339238	7049	30551											
SPATC1	375686	broad.mit.edu	37	chr8	145094990	145094990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctggcccagcacccaCgtcacagagcagccccctca	8	5	9	19	1	3	1	2	0	1	1	3	1	3	1	4	1	3	3	4	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145094990C>T	ENST00000377470.3	+	2	494	c.392C>T	c.(391-393)aCg>aTg	p.T131M	SPATC1_ENST00000447830.2_Missense_Mutation_p.T131M	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	131										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAGCACCCACGTCACAGAGC	0.667													T	145094990	C	T	145094990	3	4	364	1	0	0	0	0	1	0	0	0	15113	536	19	1	398	1	SPATC1	8	145094990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70206	145094990	1269032	7050	30552											
OPLAH	26873	broad.mit.edu	37	chr8	145111623	145111623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagtccgtgccctggtagCgcaggtgcaggaagctctca	8	7	13	13	2	1	0	1	0	1	0	3	1	2	1	2	3	4	4	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145111623C>T	ENST00000426825.1	-	13	1823	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	581							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	GCCCTGGTAGCGCAGGTGCAG	0.682													T	145111623	C	T	145111623	3	4	364	1	0	0	0	0	1	0	0	0	10952	768	27	1	2186	1	OPLAH	8	145111623	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16633	145111623	1252399	7051	30553											
OPLAH	26873	broad.mit.edu	37	chr8	145112765	145112765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctgactcttacctttgcGgtagcaggcgggtcctgggt	5	12	13	11	2	1	1	0	1	1	0	3	1	3	1	3	4	3	2	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145112765G>A	ENST00000426825.1	-	9	1231	c.1150C>T	c.(1150-1152)Cgc>Tgc	p.R384C	OPLAH_ENST00000534424.1_5'UTR	NM_017570.3	NP_060040.1	O14841	OPLA_HUMAN	5-oxoprolinase (ATP-hydrolysing)	384							5-oxoprolinase (ATP-hydrolyzing) activity|ATP binding	p.R384C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20	all_cancers(97;1.06e-10)|all_epithelial(106;1.5e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;2.24e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		L-Glutamic Acid(DB00142)	TTACCTTTGCGGTAGCAGGCG	0.662													A	145112765	G	A	145112765	3	1	364	1	0	0	0	0	1	0	0	0	10952	1116	39	1	2794	1	OPLAH	8	145112765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1142	145112765	1251257	7052	30554											
GPAA1	8733	broad.mit.edu	37	chr8	145139388	145139388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgctgctcatggttctgCggcaggcctccggccgcccc	3	8	12	18	3	2	0	1	0	1	0	3	0	3	0	5	4	3	4	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139388C>T	ENST00000355091.4	+	7	1007	c.886C>T	c.(886-888)Cgg>Tgg	p.R296W	GPAA1_ENST00000527144.1_3'UTR|GPAA1_ENST00000361036.6_Missense_Mutation_p.R236W	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	296					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATGGTTCTGCGGCAGGCCTC	0.627													T	145139388	C	T	145139388	3	4	364	1	0	0	0	0	1	0	0	0	6641	759	27	1	912	1	GPAA1	8	145139388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26623	145139388	1224634	7053	30555											
GPAA1	8733	broad.mit.edu	37	chr8	145139718	145139718	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccccggcctctcccgcttCgtctccatcggcctctacat	3	11	6	21	4	3	0	0	0	3	0	8	0	4	0	6	2	1	1	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145139718C>T	ENST00000355091.4	+	8	1225	c.1104C>T	c.(1102-1104)ttC>ttT	p.F368F	GPAA1_ENST00000361036.6_Silent_p.F308F	NM_003801.3	NP_003792.1	O43292	GPAA1_HUMAN	glycosylphosphatidylinositol anchor attachment 1	368					attachment of GPI anchor to protein|C-terminal protein lipidation|protein complex assembly|protein retention in ER lumen	GPI-anchor transamidase complex	tubulin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|upper_aerodigestive_tract(2)	19	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.02e-40)|all cancers(56;2.11e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCTCCCGCTTCGTCTCCATCG	0.607													T	145139718	C	T	145139718	2	4	364	1	0	0	0	0	0	0	0	1	6641	883	31	1		1	GPAA1	8	145139718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330	145139718	1224304	7054	30556											
SHARPIN	81858	broad.mit.edu	37	chr8	145153817	145153817	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaagggggtcccaagtgcaGggcctctgggtgctacacat	8	7	15	11	0	1	0	0	0	1	0	2	0	2	0	2	4	3	3	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145153817G>T	ENST00000398712.2	-	8	1564	c.1128C>A	c.(1126-1128)ccC>ccA	p.P376P		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	376					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCCAAGTGCAGGGCCTCTGGG	0.632													T	145153817	G	T	145153817	2	4	364	1	0	0	0	0	0	0	0	1	14361	987	35	4		4	SHARPIN	8	145153817	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14099	145153817	1210205	7055	30557											
SHARPIN	81858	broad.mit.edu	37	chr8	145154071	145154071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagcgtccaagttccccGtccatcttctgggggtgctg	7	10	11	13	2	2	0	0	0	2	0	5	0	5	0	4	2	3	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145154071G>A	ENST00000398712.2	-	7	1396	c.960C>T	c.(958-960)gaC>gaT	p.D320D		NM_030974.3	NP_112236.3	Q9H0F6	SHRPN_HUMAN	SHANK-associated RH domain interactor	320					negative regulation of inflammatory response|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein linear polyubiquitination|regulation of CD40 signaling pathway|regulation of tumor necrosis factor-mediated signaling pathway	cytosol|LUBAC complex	polyubiquitin binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(2)|ovary(2)	7	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.1e-42)|Epithelial(56;1.58e-40)|all cancers(56;6.12e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAAGTTCCCCGTCCATCTTCT	0.677													A	145154071	G	A	145154071	2	1	364	1	0	0	0	0	0	0	0	1	14361	1136	40	1		1	SHARPIN	8	145154071	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254	145154071	1209951	7056	30558											
MAF1	84232	broad.mit.edu	37	chr8	145161325	145161325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccacagctgtggaacgCggtggacgaggagatctgcc	11	5	15	10	3	1	1	0	0	1	1	1	6	1	3	2	4	4	1	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145161325C>T	ENST00000534585.1	+	5	849	c.458C>T	c.(457-459)gCg>gTg	p.A153V	MAF1_ENST00000322428.5_Missense_Mutation_p.A153V|MAF1_ENST00000532522.1_Missense_Mutation_p.A153V			Q9H063	MAF1_HUMAN	MAF1 homolog (S. cerevisiae)	153					negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	cytoplasm|nucleus				central_nervous_system(1)|lung(8)|urinary_tract(1)	10	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.1e-42)|Epithelial(56;1.23e-40)|all cancers(56;4.84e-36)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTGTGGAACGCGGTGGACGAG	0.592													T	145161325	C	T	145161325	3	4	364	1	0	0	0	0	1	0	0	0	9227	768	27	1	472	1	MAF1	8	145161325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7254	145161325	1202697	7057	30559											
HSF1	3297	broad.mit.edu	37	chr8	145535674	145535674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccagcagccccctggtgCgtgtcaaggaggagcccccc	7	6	12	16	1	1	0	1	0	0	0	2	2	2	2	6	3	4	1	6	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145535674C>T	ENST00000528838.1	+	9	1046	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C	HSF1_ENST00000400780.4_Missense_Mutation_p.R231C	NM_005526.2	NP_005517.1	Q00613	HSF1_HUMAN	heat shock transcription factor 1	296	Regulatory domain.					cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(3)|prostate(3)|skin(1)|urinary_tract(2)	11	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.12e-39)|all cancers(56;9.11e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0547)|Colorectal(110;0.055)			CCCCCTGGTGCGTGTCAAGGA	0.721													T	145535674	C	T	145535674	3	4	364	1	0	0	0	0	1	0	0	0	7450	768	27	1	920	1	HSF1	8	145535674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	374349	145535674	828348	7058	30560											
DGAT1	8694	broad.mit.edu	37	chr8	145540576	145540576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcagagggacgctcaccagGtactgagatgggagggagag	11	4	18	8	2	1	3	1	1	0	3	1	7	1	5	1	4	1	3	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145540576G>A	ENST00000332324.4	-	16	1524	c.1251C>T	c.(1249-1251)taC>taT	p.Y417Y	DGAT1_ENST00000527438.1_5'UTR	NM_012079.4	NP_036211.2	O75907	DGAT1_HUMAN	diacylglycerol O-acyltransferase 1	417					triglyceride biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane	diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;7.67e-40)|all cancers(56;7.88e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			CGCTCACCAGGTACTGAGATG	0.642													A	145540576	G	A	145540576	2	1	364	1	0	0	0	0	0	0	0	1	4496	1256	44	2		2	DGAT1	8	145540576	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4902	145540576	823446	7059	30561											
ADCK5	203054	broad.mit.edu	37	chr8	145617300	145617300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtatccctagttctggtgCggaaaggcccggacgggaaa	9	8	14	10	3	1	0	0	0	1	0	2	3	2	3	2	5	1	2	2	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145617300C>T	ENST00000308860.6	+	11	1149	c.1105C>T	c.(1105-1107)Cgg>Tgg	p.R369W		NM_174922.3	NP_777582.4	Q3MIX3	ADCK5_HUMAN	aarF domain containing kinase 5	369	Protein kinase.					integral to membrane	protein serine/threonine kinase activity			endometrium(1)|lung(2)|prostate(2)|skin(1)|stomach(2)	8	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;8.96e-41)|Epithelial(56;4.08e-40)|all cancers(56;4.51e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGTTCTGGTGCGGAAAGGCCC	0.662													T	145617300	C	T	145617300	3	4	364	1	0	0	0	0	1	0	0	0	291	759	27	1	1147	1	ADCK5	8	145617300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76724	145617300	746722	7060	30562											
CPSF1	29894	broad.mit.edu	37	chr8	145626853	145626853	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagcttaggagcagggCatcccgcttggctcctgcca	7	9	12	13	1	0	1	0	1	0	0	2	2	2	2	3	3	3	5	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145626853C>A	ENST00000349769.3	-	4	371	c.277G>T	c.(277-279)Gcc>Tcc	p.A93S		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	93					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			AGGAGCAGGGCATCCCGCTTG	0.637													A	145626853	C	A	145626853	3	1	364	1	0	0	0	0	1	0	0	0	3855	710	25	4	4194	4	CPSF1	8	145626853	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9553	145626853	737169	7061	30563											
VPS28	51160	broad.mit.edu	37	chr8	145651093	145651093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagacacagtccttgatgTaggccttctccagggcttgc	7	10	13	11	0	1	2	0	1	1	1	3	3	2	2	3	3	1	2	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145651093T>C	ENST00000377348.2	-	5	256	c.167A>G	c.(166-168)tAc>tGc	p.Y56C	VPS28_ENST00000529182.1_Missense_Mutation_p.Y56C|VPS28_ENST00000526734.1_5'UTR|VPS28_ENST00000292510.4_Missense_Mutation_p.Y56C|VPS28_ENST00000526054.1_Missense_Mutation_p.Y56C	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	56	VPS28 N-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTCCTTGATGTAGGCCTTCTC	0.612													C	145651093	T	C	145651093	3	2	364	1	0	0	0	0	1	0	0	0	17301	1638	57	3	636	3	VPS28	8	145651093	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24240	145651093	712929	7062	30564											
FOXH1	8928	broad.mit.edu	37	chr8	145699694	145699694	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggctgacccaaacgTcgtagatgcttttgttgggt	7	12	15	7	2	0	2	0	1	0	1	1	3	0	2	1	3	2	4	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145699694T>C	ENST00000377317.4	-	3	1603	c.1025A>G	c.(1024-1026)gAc>gGc	p.D342G		NM_003923.2	NP_003914.1	O75593	FOXH1_HUMAN	forkhead box H1	342	SMAD-interaction domain (SID).				axial mesoderm development|blood vessel development|cell migration involved in gastrulation|embryonic heart tube anterior/posterior pattern formation|floor plate formation|heart looping|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|specification of organ position|transforming growth factor beta receptor signaling pathway	activin responsive factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|R-SMAD binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.76e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GACCCAAACGTCGTAGATGCT	0.667													C	145699694	T	C	145699694	3	2	364	1	0	0	0	0	1	0	0	0	6059	1667	58	3	76	3	FOXH1	8	145699694	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48601	145699694	664328	7063	30565											
PPP1R16A	84988	broad.mit.edu	37	chr8	145726987	145726987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatactccaagcgactagacCggagtgtctcctaccagctg	10	9	9	13	2	1	1	0	0	1	1	3	3	2	2	4	1	4	1	4	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145726987C>T	ENST00000292539.4	+	11	2205	c.1288C>T	c.(1288-1290)Cgg>Tgg	p.R430W	PPP1R16A_ENST00000435887.1_Missense_Mutation_p.R430W			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	430						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			GCGACTAGACCGGAGTGTCTC	0.657													T	145726987	C	T	145726987	3	4	364	1	0	0	0	0	1	0	0	0	12447	643	23	1	1326	1	PPP1R16A	8	145726987	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27293	145726987	637035	7064	30566											
RECQL4	9401	broad.mit.edu	37	chr8	145739847	145739847	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgcaggacagattcccgTtgcttcctggtcatgcccga	6	12	10	13	2	2	1	1	0	1	1	4	3	4	2	3	2	3	3	3	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145739847T>C	ENST00000428558.2	-	10	1724	c.1683A>G	c.(1681-1683)caA>caG	p.Q561Q	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	561	Helicase ATP-binding.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATTCCCGTTGCTTCCTGG	0.647			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				C	145739847	T	C	145739847	2	2	364	1	0	0	0	0	0	0	0	1	13290	1722	60	3		3	RECQL4	8	145739847	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12860	145739847	624175	7065	30567											
RECQL4	9401	broad.mit.edu	37	chr8	145741146	145741146	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagggcagatgtctcAcctggccggggacactgggc	6	6	14	15	1	1	1	1	0	1	1	3	2	2	2	4	5	0	1	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145741146A>G	ENST00000428558.2	-	6	1300		c.e6+1		RECQL4_ENST00000532237.1_Splice_Site	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4						DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CAGATGTCTCACCTGGCCGGG	0.592			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				G	145741146	A	G	145741146	5	3	364	1	0	0	0	0	0	0	1	0	13290	173	6	3	2431	3	RECQL4	8	145741146	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1299	145741146	622876	7066	30568											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773468	145773468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtagcccccgccagcctcGaattgcacgtccatgggggg	6	7	14	14	3	0	0	0	0	0	0	2	1	1	0	5	4	3	2	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145773468G>A	ENST00000276826.5	-	4	1203	c.1002C>T	c.(1000-1002)ttC>ttT	p.F334F	ARHGAP39_ENST00000540274.1_Silent_p.F334F|ARHGAP39_ENST00000377307.2_Silent_p.F334F			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	334	Pro-rich.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGCCAGCCTCGAATTGCACGT	0.706													A	145773468	G	A	145773468	2	1	364	1	0	0	0	0	0	0	0	1	887	1049	37	1		1	ARHGAP39	8	145773468	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32322	145773468	590554	7067	30569											
ZNF251	90987	broad.mit.edu	37	chr8	145947321	145947321	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcgtgaggtgggactgAaagcttttccatattcatta	9	14	12	6	1	1	2	1	2	0	0	3	3	2	3	1	3	1	1	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947321A>G	ENST00000292562.7	-	5	1999	c.1724T>C	c.(1723-1725)tTc>tCc	p.F575S	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	575					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		GGTGGGACTGAAAGCTTTTCC	0.458													G	145947321	A	G	145947321	3	3	364	1	0	0	0	0	1	0	0	0	17897	246	9	3	295	3	ZNF251	8	145947321	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	173853	145947321	416701	7068	30570											
ZNF251	90987	broad.mit.edu	37	chr8	145947656	145947656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagctttcccacattcaacGcactggtagggcttctcccc	9	10	7	15	1	2	0	1	0	1	0	4	0	3	0	3	2	2	4	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145947656G>A	ENST00000292562.7	-	5	1664	c.1389C>T	c.(1387-1389)tgC>tgT	p.C463C	ZNF251_ENST00000524394.1_Intron	NM_138367.1	NP_612376.1	Q9BRH9	ZN251_HUMAN	zinc finger protein 251	463					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|kidney(1)|large_intestine(5)|lung(9)|stomach(1)	17	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;7.54e-38)|all cancers(56;6.19e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.198)		CACATTCAACGCACTGGTAGG	0.517													A	145947656	G	A	145947656	2	1	364	1	0	0	0	0	0	0	0	1	17897	1079	38	1		1	ZNF251	8	145947656	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335	145947656	416366	7069	30571											
ZNF34	80778	broad.mit.edu	37	chr8	145999691	145999691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttgacctgtgtacacGcttatggttgttgagatatg	7	19	10	5	1	0	2	0	2	0	1	0	3	0	2	1	1	1	4	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:145999691G>A	ENST00000429371.2	-	6	733	c.580C>T	c.(580-582)Cgt>Tgt	p.R194C	ZNF34_ENST00000343459.4_Missense_Mutation_p.R215C	NM_030580.3	NP_085057.3	Q8IZ26	ZNF34_HUMAN	zinc finger protein 34	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11	all_cancers(97;3.54e-11)|all_epithelial(106;2.65e-10)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.221)	OV - Ovarian serous cystadenocarcinoma(54;2.75e-39)|Epithelial(56;5.18e-38)|all cancers(56;4.41e-33)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.11)	GBM - Glioblastoma multiforme(99;0.0179)		CTGTGTACACGCTTATGGTTG	0.388													A	145999691	G	A	145999691	3	1	364	1	0	0	0	0	1	0	0	0	17957	1087	38	1	1043	1	ZNF34	8	145999691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52035	145999691	364331	7070	30572											
ZNF7	7553	broad.mit.edu	37	chr8	146066770	146066770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taggactgaaaatgagcaggCctgtgaggacatggacatcc	13	7	13	8	0	0	3	0	3	0	0	1	6	1	6	2	4	1	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146066770C>T	ENST00000528372.1	+	5	518	c.278C>T	c.(277-279)gCc>gTc	p.A93V	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000529819.1_Intron|ZNF7_ENST00000532393.1_3'UTR|ZNF7_ENST00000325241.6_Missense_Mutation_p.A93V|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_5'UTR|ZNF7_ENST00000446747.2_Missense_Mutation_p.A104V			P17097	ZNF7_HUMAN	zinc finger protein 7	93					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AATGAGCAGGCCTGTGAGGAC	0.453													T	146066770	C	T	146066770	3	4	364	1	0	0	0	0	1	0	0	0	18203	739	26	2	292	2	ZNF7	8	146066770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67079	146066770	297252	7071	30573											
ZNF7	7553	broad.mit.edu	37	chr8	146068162	146068162	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccctataaatgtaatgAatgtgggaaagccttcagtc	13	10	11	7	0	1	1	1	1	0	0	2	3	1	2	2	2	1	1	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146068162A>C	ENST00000528372.1	+	5	1910	c.1670A>C	c.(1669-1671)gAa>gCa	p.E557A	ZNF7_ENST00000325217.5_Intron|ZNF7_ENST00000325241.6_Missense_Mutation_p.E557A|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000544249.1_Missense_Mutation_p.E461A|ZNF7_ENST00000446747.2_Missense_Mutation_p.E568A			P17097	ZNF7_HUMAN	zinc finger protein 7	557					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		AAATGTAATGAATGTGGGAAA	0.463													C	146068162	A	C	146068162	3	2	364	1	0	0	0	0	1	0	0	0	18203	246	9	5	1684	5	ZNF7	8	146068162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1392	146068162	295860	7072	30574											
ZNF16	7564	broad.mit.edu	37	chr8	146156218	146156218	+	Missense_Mutation	SNP	G	G	T																															agtcatagggcttcaccccaGtgtgaatcctctggtgctgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156218G>T	ENST00000276816.4	-	4	2141	c.1955C>A	c.(1954-1956)aCt>aAt	p.T652N	ZNF16_ENST00000394909.2_Missense_Mutation_p.T652N	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	652					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CTTCACCCCAGTGTGAATCCT	0.527													T	146156218	G	T	146156218	3	4	364	1	0	0	0	0	1	0	0	0	17839	1029	36	4	97	4	ZNF16	8	146156218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88056	146156218	207804	7073	30575	73	2									
ZNF16	7564	broad.mit.edu	37	chr8	146156226	146156226	+	Missense_Mutation	SNP	C	C	A																															ggcttcaccccagtgtgaatCctctggtgctggatgaggac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156226C>A	ENST00000276816.4	-	4	2133	c.1947G>T	c.(1945-1947)agG>agT	p.R649S	ZNF16_ENST00000394909.2_Missense_Mutation_p.R649S	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	649					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		CAGTGTGAATCCTCTGGTGCT	0.522													A	146156226	C	A	146156226	3	1	364	1	0	0	0	0	1	0	0	0	17839	854	30	4	105	4	ZNF16	8	146156226	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	146156226	207796	7074	30576	73	2									
ZNF16	7564	broad.mit.edu	37	chr8	146156927	146156927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaatgaggttggagacccGactgaagggcttgccacaat	11	9	12	9	1	0	3	0	2	0	1	0	5	0	3	2	3	1	2	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146156927G>A	ENST00000276816.4	-	4	1432	c.1246C>T	c.(1246-1248)Cgg>Tgg	p.R416W	ZNF16_ENST00000394909.2_Missense_Mutation_p.R416W	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTGGAGACCCGACTGAAGGGC	0.517													A	146156927	G	A	146156927	3	1	364	1	0	0	0	0	1	0	0	0	17839	1057	37	1	806	1	ZNF16	8	146156927	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701	146156927	207095	7075	30577											
ZNF16	7564	broad.mit.edu	37	chr8	146157522	146157522	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtcaggatttccttggaaGgttttcccacactcattaca	10	13	8	10	0	2	0	2	0	0	0	4	2	4	2	2	4	1	1	2	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146157522G>T	ENST00000276816.4	-	4	837	c.651C>A	c.(649-651)acC>acA	p.T217T	ZNF16_ENST00000394909.2_Silent_p.T217T	NM_001029976.2	NP_001025147.2	P17020	ZNF16_HUMAN	zinc finger protein 16	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|lung(9)|ovary(5)|prostate(1)|skin(1)|urinary_tract(1)	29	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.136)	Epithelial(56;3.45e-38)|all cancers(56;3.04e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.02)|KIRC - Kidney renal clear cell carcinoma(644;0.0486)		TTCCTTGGAAGGTTTTCCCAC	0.488													T	146157522	G	T	146157522	2	4	364	1	0	0	0	0	0	0	0	1	17839	987	35	4		4	ZNF16	8	146157522	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	595	146157522	206500	7076	30578											
C8orf33	65265	broad.mit.edu	37	chr8	146278270	146278270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaagaagttcccctaaGcgctgaggcccaggcaaggg	11	4	13	13	1	0	3	0	1	0	2	1	3	1	3	4	3	1	3	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr8:146278270G>A	ENST00000331434.6	+	2	419	c.305G>A	c.(304-306)aGc>aAc	p.S102N		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	102										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		GTTCCCCTAAGCGCTGAGGCC	0.582													A	146278270	G	A	146278270	3	1	364	1	0	0	0	0	1	0	0	0	2446	971	34	2	311	2	C8orf33	8	146278270	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120748	146278270	85752	7077	30579											
FOXD4	2298	broad.mit.edu	37	chr9	117021	117021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagtcctcctcctgatgccGctgctgttgctgcaaaattg	6	12	10	13	1	0	1	0	1	0	0	3	1	3	1	4	0	4	6	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117021G>A	ENST00000382500.2	-	1	1396	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	367					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		TCCTGATGCCGCTGCTGTTGC	0.687													A	117021	G	A	117021	3	1	364	1	0	0	0	0	1	0	0	0	6048	1086	38	1	224	1	FOXD4	9	117021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		117021	141096410	7078	30580											
DOCK8	81704	broad.mit.edu	37	chr9	328087	328087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttctgcgagctcacacGccttcagtggccgcatcaag	8	9	11	13	3	4	0	3	0	1	0	4	2	4	1	2	2	2	2	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:328087G>A	ENST00000432829.2	+	9	1072	c.756G>A	c.(754-756)acG>acA	p.T252T	DOCK8_ENST00000469391.1_Silent_p.T252T|DOCK8_ENST00000453981.1_Silent_p.T320T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	320					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCTCACACGCCTTCAGTGG	0.458													A	328087	G	A	328087	2	1	364	1	0	0	0	0	0	0	0	1	4732	1074	38	1		1	DOCK8	9	328087	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211066	328087	140885344	7079	30581											
DOCK8	81704	broad.mit.edu	37	chr9	379793	379793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttctcccagtttgccttCgagtccgtggtggccatcgc	5	12	10	14	3	1	0	0	0	1	0	5	1	2	0	4	2	2	1	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:379793C>T	ENST00000432829.2	+	21	2575	c.2259C>T	c.(2257-2259)ttC>ttT	p.F753F	DOCK8_ENST00000382331.1_Silent_p.F123F|DOCK8_ENST00000469391.1_Silent_p.F753F|DOCK8_ENST00000453981.1_Silent_p.F821F|DOCK8_ENST00000382329.1_Silent_p.F288F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	821					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGTTTGCCTTCGAGTCCGTGG	0.557													T	379793	C	T	379793	2	4	364	1	0	0	0	0	0	0	0	1	4732	883	31	1		1	DOCK8	9	379793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51706	379793	140833638	7080	30582											
DOCK8	81704	broad.mit.edu	37	chr9	439372	439372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcctggagcaggccgCggagctcttcagcacggtca	7	6	14	14	3	3	0	2	0	1	0	4	2	4	2	3	5	3	3	3	5	0	1	rs139990627	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:439372C>T	ENST00000432829.2	+	40	5319	c.5003C>T	c.(5002-5004)gCg>gTg	p.A1668V	DOCK8_ENST00000469391.1_Missense_Mutation_p.A1636V|DOCK8_ENST00000453981.1_Missense_Mutation_p.A1736V|DOCK8_ENST00000382329.1_Missense_Mutation_p.A1203V	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1736	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		GAGCAGGCCGCGGAGCTCTTC	0.642													T	439372	C	T	439372	3	4	364	1	0	0	0	0	1	0	0	0	4732	768	27	1	5365	1	DOCK8	9	439372	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59579	439372	140774059	7081	30583											
DOCK8	81704	broad.mit.edu	37	chr9	441969	441969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttgtctacaaagagcCtgcaattaccaagcttcctg	11	11	9	10	0	1	1	0	0	1	1	2	2	2	2	3	1	5	3	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:441969C>A	ENST00000432829.2	+	42	5562	c.5246C>A	c.(5245-5247)cCt>cAt	p.P1749H	DOCK8_ENST00000469391.1_Missense_Mutation_p.P1717H|DOCK8_ENST00000453981.1_Missense_Mutation_p.P1817H|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1284H	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	1817	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACAAAGAGCCTGCAATTACC	0.423													A	441969	C	A	441969	3	1	364	1	0	0	0	0	1	0	0	0	4732	681	24	4	5616	4	DOCK8	9	441969	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2597	441969	140771462	7082	30584											
KANK1	23189	broad.mit.edu	37	chr9	711585	711585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggccattgctctgaaacgCctgaaggagctggaggagca	11	7	14	9	1	1	2	0	2	1	0	1	5	1	5	2	4	4	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:711585C>T	ENST00000382303.1	+	7	1471	c.819C>T	c.(817-819)cgC>cgT	p.R273R	KANK1_ENST00000489369.1_3'UTR|KANK1_ENST00000382297.2_Silent_p.R273R|KANK1_ENST00000382293.3_Silent_p.R115R	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	273					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CTCTGAAACGCCTGAAGGAGC	0.572													T	711585	C	T	711585	2	4	364	1	0	0	0	0	0	0	0	1	8034	726	26	2		2	KANK1	9	711585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269616	711585	140501846	7083	30585											
DMRT3	58524	broad.mit.edu	37	chr9	990083	990083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacggcaagtcggcagacaAtacagaggtcttcagtgaca	14	6	12	9	2	2	4	1	1	1	3	3	4	2	4	0	3	1	2	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:990083A>G	ENST00000190165.2	+	2	535	c.497A>G	c.(496-498)aAt>aGt	p.N166S		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	166					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		TCGGCAGACAATACAGAGGTC	0.493													G	990083	A	G	990083	3	3	364	1	0	0	0	0	1	0	0	0	4626	101	4	3	503	3	DMRT3	9	990083	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278498	990083	140223348	7084	30586											
SMARCA2	6595	broad.mit.edu	37	chr9	2054698	2054698	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaccgtggaactaaaagcacTtcggttactcaatttccagc	13	10	7	11	2	1	0	1	0	0	0	3	1	2	1	2	2	5	2	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2054698T>G	ENST00000382203.1	+	6	1357	c.1148T>G	c.(1147-1149)cTt>cGt	p.L383R	SMARCA2_ENST00000349721.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000357248.2_Missense_Mutation_p.L383R|SMARCA2_ENST00000382194.1_Missense_Mutation_p.L383R			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	383					chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CTAAAAGCACTTCGGTTACTC	0.423													G	2054698	T	G	2054698	3	3	364	1	0	0	0	0	1	0	0	0	14863	1609	56	5	1166	5	SMARCA2	9	2054698	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1064615	2054698	139158733	7085	30587											
VLDLR	7436	broad.mit.edu	37	chr9	2643437	2643437	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaccaagtgtccagccagCgaaatccagtgcggctctgg	10	6	11	14	2	1	0	0	0	1	0	3	1	3	0	4	2	3	1	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2643437C>T	ENST00000382100.3	+	5	1082	c.726C>T	c.(724-726)agC>agT	p.S242S	VLDLR_ENST00000382099.2_Silent_p.S242S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		LDL-receptor class A 6.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		GTCCAGCCAGCGAAATCCAGT	0.562													T	2643437	C	T	2643437	2	4	364	1	0	0	0	0	0	0	0	1	17276	767	27	1		1	VLDLR	9	2643437	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	588739	2643437	138569994	7086	30588											
VLDLR	7436	broad.mit.edu	37	chr9	2645695	2645695	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctctcgatgctgacatTgctgcccagaaactattctg	8	12	10	11	1	2	2	0	1	2	1	3	3	2	2	1	1	4	3	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2645695T>C	ENST00000382100.3	+	10	1790	c.1434T>C	c.(1432-1434)atT>atC	p.I478I	VLDLR_ENST00000382099.2_Silent_p.I478I	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		ATGCTGACATTGCTGCCCAGA	0.423													C	2645695	T	C	2645695	2	2	364	1	0	0	0	0	0	0	0	1	17276	1800	63	3		3	VLDLR	9	2645695	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2258	2645695	138567736	7087	30589											
VLDLR	7436	broad.mit.edu	37	chr9	2646507	2646507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagttcctgtttaactCtgacttgcgagagcctgcct	8	12	11	10	1	1	2	0	1	1	1	2	5	2	3	3	1	4	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2646507C>A	ENST00000382100.3	+	11	2014	c.1658C>A	c.(1657-1659)tCt>tAt	p.S553Y	VLDLR_ENST00000382099.2_Missense_Mutation_p.S553Y|VLDLR_ENST00000478776.1_3'UTR	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTGTTTAACTCTGACTTGCGA	0.473													A	2646507	C	A	2646507	3	1	364	1	0	0	0	0	1	0	0	0	17276	913	32	4	1700	4	VLDLR	9	2646507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	812	2646507	138566924	7088	30590											
VLDLR	7436	broad.mit.edu	37	chr9	2650376	2650376	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttcctgactaggtaaaaAttggtgtgaagaagacatgg	13	13	11	4	0	0	4	0	2	0	2	1	4	1	4	1	3	0	1	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2650376A>G	ENST00000382100.3	+	15	2467	c.2111A>G	c.(2110-2112)aAt>aGt	p.N704S	VLDLR_ENST00000382099.2_Missense_Mutation_p.N704S	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor		EGF-like 3.				cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		CTAGGTAAAAATTGGTGTGAA	0.413													G	2650376	A	G	2650376	3	3	364	1	0	0	0	0	1	0	0	0	17276	101	4	3	2169	3	VLDLR	9	2650376	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3869	2650376	138563055	7089	30591											
KIAA0020	9933	broad.mit.edu	37	chr9	2828698	2828698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggccattggagttagaatCtgtttcatttcatccataat	10	16	8	7	0	3	1	2	0	1	1	4	2	4	2	2	2	0	2	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2828698C>T	ENST00000397885.2	-	9	1139	c.933G>A	c.(931-933)caG>caA	p.Q311Q	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	311	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		GAGTTAGAATCTGTTTCATTT	0.358													T	2828698	C	T	2828698	2	4	364	1	0	0	0	0	0	0	0	1	8210	912	32	2		2	KIAA0020	9	2828698	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178322	2828698	138384733	7090	30592											
KIAA0020	9933	broad.mit.edu	37	chr9	2831319	2831319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgtaacactggatcacaCgagttgaatcgtgtgcaaat	14	10	10	7	2	1	1	1	1	0	0	2	4	1	2	0	1	2	3	0	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:2831319C>T	ENST00000397885.2	-	6	748	c.542G>A	c.(541-543)cGt>cAt	p.R181H		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	181	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding	p.R181P(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTGGATCACACGAGTTGAATC	0.338													T	2831319	C	T	2831319	3	4	364	1	0	0	0	0	1	0	0	0	8210	536	19	1	1456	1	KIAA0020	9	2831319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2621	2831319	138382112	7091	30593											
GLIS3	169792	broad.mit.edu	37	chr9	4125771	4125771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattcaggttggctgcatTcattgccctctgtaagctag	8	15	9	9	0	3	0	2	0	1	0	3	0	3	0	1	2	3	5	1	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4125771T>C	ENST00000324333.10	-	2	287	c.94A>G	c.(94-96)Aat>Gat	p.N32D	GLIS3_ENST00000381971.3_Missense_Mutation_p.N187D	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	32					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TTGGCTGCATTCATTGCCCTC	0.463													C	4125771	T	C	4125771	3	2	364	1	0	0	0	0	1	0	0	0	6503	1783	62	3	2269	3	GLIS3	9	4125771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1294452	4125771	137087660	7092	30594											
GLIS3	169792	broad.mit.edu	37	chr9	4286206	4286206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatgcggctctcagccaCgttgttctgaggagccatcc	7	10	12	12	2	2	1	1	1	2	0	4	3	3	3	3	3	3	3	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4286206C>T	ENST00000381971.3	-	2	813	c.220G>A	c.(220-222)Gtg>Atg	p.V74M		NM_001042413.1	NP_001035878.1	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	0	Ser-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		CTCTCAGCCACGTTGTTCTGA	0.587													T	4286206	C	T	4286206	3	4	364	1	0	0	0	0	1	0	0	0	6503	536	19	1	2612	1	GLIS3	9	4286206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160435	4286206	136927225	7093	30595											
SLC1A1	6505	broad.mit.edu	37	chr9	4567705	4567705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaagtgaagcctcccagcGatccagagatgaacatgaca	16	5	10	10	1	0	5	0	3	0	2	2	7	2	5	3	0	3	0	3	0	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4567705G>A	ENST00000262352.3	+	6	756	c.520G>A	c.(520-522)Gat>Aat	p.D174N		NM_004170.5	NP_004161.4	P43005	EAA3_HUMAN	solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1	174					D-aspartate import|L-glutamate import|synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|pancreas(1)|skin(1)	15		Acute lymphoblastic leukemia(2;0.0359)|Breast(48;0.0457)		GBM - Glioblastoma multiforme(50;0.0124)|Lung(218;0.183)	L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)	GCCTCCCAGCGATCCAGAGAT	0.413													A	4567705	G	A	4567705	3	1	364	1	0	0	0	0	1	0	0	0	14525	1058	37	1	542	1	SLC1A1	9	4567705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281499	4567705	136645726	7094	30596											
CDC37L1	55664	broad.mit.edu	37	chr9	4701964	4701964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagttttcaacctatgaCagttcagaatcatgttcccc	13	12	5	11	0	3	2	3	1	0	1	4	2	4	2	3	0	1	3	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:4701964C>T	ENST00000381854.3	+	6	1050	c.848C>T	c.(847-849)aCa>aTa	p.T283I	CDC37L1_ENST00000381858.1_Missense_Mutation_p.T283I	NM_017913.2	NP_060383.2	Q7L3B6	CD37L_HUMAN	cell division cycle 37-like 1	283	Interaction with Hsp70.|Required for interaction with STIP1.					cytoplasm				breast(1)|kidney(1)|lung(2)	4	all_hematologic(13;0.137)	Breast(48;0.238)		GBM - Glioblastoma multiforme(50;0.0318)		CAACCTATGACAGTTCAGAAT	0.338													T	4701964	C	T	4701964	3	4	364	1	0	0	0	0	1	0	0	0	3099	478	17	2	870	2	CDC37L1	9	4701964	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134259	4701964	136511467	7095	30597											
JAK2	3717	broad.mit.edu	37	chr9	5050690	5050690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatttttggttttagtggcGgcatgattttgtgcacggat	8	17	12	4	2	0	1	0	1	0	0	0	2	0	2	0	4	1	3	0	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050690G>A	ENST00000381652.3	+	6	967	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	JAK2_ENST00000544510.1_Missense_Mutation_p.R9Q|JAK2_ENST00000539801.1_Missense_Mutation_p.R158Q	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	158	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		TTTTAGTGGCGGCATGATTTT	0.328		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				A	5050690	G	A	5050690	3	1	364	1	0	0	0	0	1	0	0	0	7996	1116	39	1	487	1	JAK2	9	5050690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	348726	5050690	136162741	7096	30598											
JAK2	3717	broad.mit.edu	37	chr9	5050723	5050723	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggatggataaaagtacCtgtgactcatgaaacacagg	15	7	11	8	1	1	2	1	2	0	0	1	4	1	4	1	3	2	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5050723C>A	ENST00000381652.3	+	6	1000	c.506C>A	c.(505-507)cCt>cAt	p.P169H	JAK2_ENST00000544510.1_Missense_Mutation_p.P20H|JAK2_ENST00000539801.1_Missense_Mutation_p.P169H	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	169	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		ATAAAAGTACCTGTGACTCAT	0.378		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				A	5050723	C	A	5050723	3	1	364	1	0	0	0	0	1	0	0	0	7996	681	24	4	520	4	JAK2	9	5050723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	5050723	136162708	7097	30599											
JAK2	3717	broad.mit.edu	37	chr9	5089777	5089777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcatagtactgaagagcaccTaagagactttgaaagggaaa	17	7	11	6	0	0	4	0	2	0	2	0	6	0	5	1	1	2	3	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5089777T>C	ENST00000381652.3	+	20	3169	c.2675T>C	c.(2674-2676)cTa>cCa	p.L892P	JAK2_ENST00000544510.1_Missense_Mutation_p.L743P|JAK2_ENST00000539801.1_Missense_Mutation_p.L892P	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	892	Protein kinase 2.				actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)		GAAGAGCACCTAAGAGACTTT	0.458		1	"T, Mis, O"	"ETV6, PCM1, BCR"	"ALL, AML, MPD,  CML"				Polycythemia Vera, Familial				C	5089777	T	C	5089777	3	2	364	1	0	0	0	0	1	0	0	0	7996	1522	53	3	2745	3	JAK2	9	5089777	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39054	5089777	136123654	7098	30600											
CD274	29126	broad.mit.edu	37	chr9	5457177	5457177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagaaaaacaattagacctgGctgcactaattgtctattgg	14	12	8	7	0	1	2	0	0	1	2	1	2	1	2	1	2	2	2	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5457177G>A	ENST00000381577.3	+	3	237	c.151G>A	c.(151-153)Gct>Act	p.A51T	CD274_ENST00000381573.4_Intron|CD274_ENST00000498261.1_3'UTR	NM_014143.3	NP_054862.1	Q9NZQ7	PD1L1_HUMAN	CD274 molecule	51	Ig-like V-type.				cell proliferation|cell surface receptor linked signaling pathway|immune response|T cell costimulation	endomembrane system|integral to membrane	receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000742)|Lung(218;0.111)		ATTAGACCTGGCTGCACTAAT	0.403			T	CIITA	"PMBL, Hodgkin Lymphona, "								A	5457177	G	A	5457177	3	1	364	1	0	0	0	0	1	0	0	0	3021	1203	42	2	157	2	CD274	9	5457177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367400	5457177	135756254	7099	30601											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5534953	5534953	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggaaggcctcgttccaCatacctcaagtccaagtgag	11	8	10	12	1	1	1	1	1	0	0	4	2	3	2	4	2	1	1	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534953C>T	ENST00000397747.3	+	3	512	c.264C>T	c.(262-264)caC>caT	p.H88H	PDCD1LG2_ENST00000397745.2_Silent_p.H88H	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	88	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		CCTCGTTCCACATACCTCAAG	0.507													T	5534953	C	T	5534953	2	4	364	1	0	0	0	0	0	0	0	1	11694	477	17	2		2	PDCD1LG2	9	5534953	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77776	5534953	135678478	7100	30602											
PDCD1LG2	80380	broad.mit.edu	37	chr9	5534981	5534981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaagtgagggacgaaGgacagtaccaatgcataatc	16	6	11	8	1	0	1	0	1	0	0	2	4	1	3	2	2	2	2	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5534981G>A	ENST00000397747.3	+	3	540	c.292G>A	c.(292-294)Gga>Aga	p.G98R	PDCD1LG2_ENST00000397745.2_Missense_Mutation_p.G98R	NM_025239.3	NP_079515.2	Q9BQ51	PD1L2_HUMAN	programmed cell death 1 ligand 2	98	Ig-like V-type.				immune response|T cell costimulation	endomembrane system|extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(2)|lung(4)|prostate(2)	8	all_hematologic(13;0.158)	Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000767)|Lung(218;0.112)		GAGGGACGAAGGACAGTACCA	0.517													A	5534981	G	A	5534981	3	1	364	1	0	0	0	0	1	0	0	0	11694	1001	35	2	298	2	PDCD1LG2	9	5534981	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28	5534981	135678450	7101	30603											
KIAA1432	57589	broad.mit.edu	37	chr9	5747416	5747416	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactctgagcataagcccAgtcgagaaaagagcccattt	14	7	8	12	1	1	3	0	1	1	2	2	4	1	3	2	0	3	1	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5747416A>G	ENST00000414202.2	+	12	1554	c.1363A>G	c.(1363-1365)Agt>Ggt	p.S455G	KIAA1432_ENST00000449720.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000381532.2_Missense_Mutation_p.S376G|KIAA1432_ENST00000251879.6_Missense_Mutation_p.S455G|KIAA1432_ENST00000418622.3_Missense_Mutation_p.S376G	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	455						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		GCATAAGCCCAGTCGAGAAAA	0.468													G	5747416	A	G	5747416	3	3	364	1	0	0	0	0	1	0	0	0	8291	188	7	3	1168	3	KIAA1432	9	5747416	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	212435	5747416	135466015	7102	30604											
KIAA1432	57589	broad.mit.edu	37	chr9	5765701	5765701	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatttgagttcttcaggaatCgaagcatcagtttatcccag	11	13	9	8	1	3	1	2	1	1	0	5	4	4	2	1	1	1	3	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5765701C>T	ENST00000414202.2	+	21	3231	c.3040C>T	c.(3040-3042)Cga>Tga	p.R1014*	KIAA1432_ENST00000449720.2_Nonsense_Mutation_p.R898*|KIAA1432_ENST00000381532.2_Nonsense_Mutation_p.R935*|KIAA1432_ENST00000251879.6_Nonsense_Mutation_p.R1014*|KIAA1432_ENST00000418622.3_Nonsense_Mutation_p.R935*	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1014						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		CTTCAGGAATCGAAGCATCAG	0.428													T	5765701	C	T	5765701	4	4	364	1	0	0	0	0	0	1	0	0	8291	876	31	1	2881	1	KIAA1432	9	5765701	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18285	5765701	135447730	7103	30605											
ERMP1	79956	broad.mit.edu	37	chr9	5812154	5812154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggaatctgttagaattCtgtccgctgtgtcatacttg	9	15	10	7	1	3	1	1	0	2	1	4	3	4	2	1	1	1	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812154C>A	ENST00000339450.5	-	6	1174	c.1085G>T	c.(1084-1086)aGa>aTa	p.R362I	ERMP1_ENST00000381506.3_Missense_Mutation_p.R138I|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	362					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		TGTTAGAATTCTGTCCGCTGT	0.313													A	5812154	C	A	5812154	3	1	364	1	0	0	0	0	1	0	0	0	5277	913	32	4	1669	4	ERMP1	9	5812154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46453	5812154	135401277	7104	30606											
ERMP1	79956	broad.mit.edu	37	chr9	5812918	5812918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccaaaatccctgtagataCgaaagtcagtatctgaagga	15	9	8	9	1	2	2	1	1	1	1	4	4	4	3	2	1	1	2	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:5812918C>T	ENST00000339450.5	-	5	1081	c.992G>A	c.(991-993)cGt>cAt	p.R331H	ERMP1_ENST00000381506.3_Missense_Mutation_p.R107H|ERMP1_ENST00000214893.5_5'UTR	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	331					proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		CCTGTAGATACGAAAGTCAGT	0.388													T	5812918	C	T	5812918	3	4	364	1	0	0	0	0	1	0	0	0	5277	536	19	1	1766	1	ERMP1	9	5812918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	764	5812918	135400513	7105	30607											
RANBP6	26953	broad.mit.edu	37	chr9	6012454	6012454	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcattaatttttccttCtgcaattatactgattattt	10	21	3	7	0	2	1	1	1	2	0	4	1	3	1	1	0	2	1	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6012454C>A	ENST00000259569.5	-	1	3164	c.3154G>T	c.(3154-3156)Gaa>Taa	p.E1052*		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	1052					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTTTCCTTCTGCAATTATA	0.373													A	6012454	C	A	6012454	4	1	364	1	0	0	0	0	0	1	0	0	13119	922	32	4	167	4	RANBP6	9	6012454	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199536	6012454	135200977	7106	30608											
RANBP6	26953	broad.mit.edu	37	chr9	6013420	6013420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcatggactctgctgctgCcactcgaacattgtcatgga	9	10	11	11	1	2	0	1	0	1	0	3	3	2	2	1	3	4	3	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6013420C>T	ENST00000259569.5	-	1	2198	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	730					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		TCTGCTGCTGCCACTCGAACA	0.428													T	6013420	C	T	6013420	3	4	364	1	0	0	0	0	1	0	0	0	13119	739	26	2	1133	2	RANBP6	9	6013420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	966	6013420	135200011	7107	30609											
RANBP6	26953	broad.mit.edu	37	chr9	6014625	6014625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcagcatttacccagTcctcatcatcttgtagatca	10	15	4	12	0	6	1	5	0	1	1	7	1	7	1	2	0	2	2	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6014625T>C	ENST00000259569.5	-	1	993	c.983A>G	c.(982-984)gAc>gGc	p.D328G	RANBP6_ENST00000485372.1_Intron	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	328					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATTTACCCAGTCCTCATCATC	0.418													C	6014625	T	C	6014625	3	2	364	1	0	0	0	0	1	0	0	0	13119	1667	58	3	2338	3	RANBP6	9	6014625	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1205	6014625	135198806	7108	30610											
IL33	90865	broad.mit.edu	37	chr9	6250588	6250588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaccaccaaaaggccttCactgaaaacaggtaagggga	18	4	10	9	0	1	2	1	1	0	1	1	3	1	3	3	4	2	1	3	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6250588C>T	ENST00000381434.3	+	2	219	c.206C>T	c.(205-207)tCa>tTa	p.S69L	IL33_ENST00000417746.2_Intron|IL33_ENST00000456383.2_Missense_Mutation_p.S69L	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	69					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		AAAAGGCCTTCACTGAAAACA	0.413													T	6250588	C	T	6250588	3	4	364	1	0	0	0	0	1	0	0	0	7751	838	29	2	212	2	IL33	9	6250588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235963	6250588	134962843	7109	30611											
TPD52L3	89882	broad.mit.edu	37	chr9	6328717	6328717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactcactaaattggaggCtgaaattgtaaccctacgcc	14	9	7	11	1	1	1	1	1	0	0	1	2	1	2	2	2	3	2	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6328717C>A	ENST00000344545.5	+	1	369	c.122C>A	c.(121-123)gCt>gAt	p.A41D	TPD52L3_ENST00000381428.1_Missense_Mutation_p.A41D|TPD52L3_ENST00000314556.3_Missense_Mutation_p.A41D	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	41							protein binding			large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		AAATTGGAGGCTGAAATTGTA	0.517													A	6328717	C	A	6328717	3	1	364	1	0	0	0	0	1	0	0	0	16501	797	28	4	124	4	TPD52L3	9	6328717	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78129	6328717	134884714	7110	30612											
GLDC	2731	broad.mit.edu	37	chr9	6540085	6540085	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggccacatccacagcCtcaatatttgcagacttttt	9	14	5	13	0	2	1	1	0	1	1	3	1	3	1	3	1	2	1	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6540085C>T	ENST00000321612.6	-	22	2781	c.2631G>A	c.(2629-2631)gaG>gaA	p.E877E		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	877					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	CATCCACAGCCTCAATATTTG	0.458													T	6540085	C	T	6540085	2	4	364	1	0	0	0	0	0	0	0	1	6489	680	24	2		2	GLDC	9	6540085	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211368	6540085	134673346	7111	30613											
GLDC	2731	broad.mit.edu	37	chr9	6602179	6602179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtttgaagagcaagaCgatacacttctttcccagtg	10	11	9	11	1	1	3	0	1	1	2	2	4	2	3	2	1	2	2	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6602179C>T	ENST00000321612.6	-	8	1235	c.1085G>A	c.(1084-1086)cGt>cAt	p.R362H		NM_000170.2	NP_000161.2	P23378	GCSP_HUMAN	glycine dehydrogenase (decarboxylating)	362					glycine catabolic process	mitochondrion	electron carrier activity|glycine dehydrogenase (decarboxylating) activity|lyase activity|pyridoxal phosphate binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Acute lymphoblastic leukemia(23;0.161)		GBM - Glioblastoma multiforme(50;0.0421)|Lung(218;0.134)	Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	AAGAGCAAGACGATACACTTC	0.448													T	6602179	C	T	6602179	3	4	364	1	0	0	0	0	1	0	0	0	6489	536	19	1	2049	1	GLDC	9	6602179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62094	6602179	134611252	7112	30614											
KDM4C	23081	broad.mit.edu	37	chr9	6990511	6990511	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttgtgaagcagcaggcGccaagtgatgaaggtgagat	12	8	14	7	1	1	4	0	4	1	1	1	5	1	4	1	2	2	2	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:6990511G>T	ENST00000381309.3	+	12	2338	c.1773G>T	c.(1771-1773)gcG>gcT	p.A591A	KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000428870.2_Silent_p.A278A|KDM4C_ENST00000543771.1_Silent_p.A591A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408													T	6990511	G	T	6990511	2	4	364	1	0	0	0	0	0	0	0	1	8188	1074	38	4		4	KDM4C	9	6990511	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	388332	6990511	134222920	7113	30615											
KDM4C	23081	broad.mit.edu	37	chr9	7013989	7013989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgcaaagtgctgcgtaCgggttcatgcaagtaaatgg	10	10	13	8	2	1	0	1	0	0	0	1	0	1	0	1	2	5	6	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:7013989C>T	ENST00000381309.3	+	14	2735	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	KDM4C_ENST00000381306.3_Missense_Mutation_p.R724W|KDM4C_ENST00000535193.1_Missense_Mutation_p.R746W|KDM4C_ENST00000442236.2_Missense_Mutation_p.R469W|KDM4C_ENST00000536108.1_Missense_Mutation_p.R543W|KDM4C_ENST00000428870.2_Missense_Mutation_p.R411W|KDM4C_ENST00000543771.1_Missense_Mutation_p.R724W	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	724					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						GTGCTGCGTACGGGTTCATGC	0.368													T	7013989	C	T	7013989	3	4	364	1	0	0	0	0	1	0	0	0	8188	527	19	1	2290	1	KDM4C	9	7013989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23478	7013989	134199442	7114	30616											
PTPRD	5789	broad.mit.edu	37	chr9	8331643	8331643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgttttatggacttggcCgatgaagtcaataaatcctt	10	17	8	6	1	1	1	1	1	0	0	2	3	2	2	2	2	0	1	2	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8331643C>T	ENST00000381196.4	-	41	6016	c.5473G>A	c.(5473-5475)Ggc>Agc	p.G1825S	PTPRD_ENST00000360074.4_Missense_Mutation_p.G1812S|PTPRD_ENST00000397611.3_Missense_Mutation_p.G1415S|PTPRD_ENST00000356435.5_Missense_Mutation_p.G1825S|PTPRD_ENST00000355233.5_Missense_Mutation_p.G1419S|PTPRD_ENST00000358503.5_Missense_Mutation_p.G1803S|PTPRD_ENST00000486161.1_Missense_Mutation_p.G1418S|PTPRD_ENST00000397606.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000397617.3_Missense_Mutation_p.G1418S|PTPRD_ENST00000540109.1_Missense_Mutation_p.G1825S|PTPRD_ENST00000537002.1_Missense_Mutation_p.G1415S	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1825	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G1825R(2)|p.G1419R(1)|p.G1296R(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGGACTTGGCCGATGAAGTCA	0.463										TSP Lung(15;0.13)			T	8331643	C	T	8331643	3	4	364	1	0	0	0	0	1	0	0	0	12887	652	23	1	277	1	PTPRD	9	8331643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1317654	8331643	132881788	7115	30617											
PTPRD	5789	broad.mit.edu	37	chr9	8340357	8340357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttactctgcccatttcacGcagcttggtgagcatcacaa	10	11	7	13	1	3	1	2	1	1	0	3	1	3	1	1	1	4	3	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8340357G>A	ENST00000381196.4	-	39	5782	c.5239C>T	c.(5239-5241)Cgt>Tgt	p.R1747C	PTPRD_ENST00000360074.4_Missense_Mutation_p.R1734C|PTPRD_ENST00000397611.3_Missense_Mutation_p.R1337C|PTPRD_ENST00000356435.5_Missense_Mutation_p.R1747C|PTPRD_ENST00000355233.5_Missense_Mutation_p.R1341C|PTPRD_ENST00000358503.5_Missense_Mutation_p.R1725C|PTPRD_ENST00000486161.1_Missense_Mutation_p.R1340C|PTPRD_ENST00000397606.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000397617.3_Missense_Mutation_p.R1340C|PTPRD_ENST00000540109.1_Missense_Mutation_p.R1747C|PTPRD_ENST00000537002.1_Missense_Mutation_p.R1337C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1747	Tyrosine-protein phosphatase 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCCATTTCACGCAGCTTGGTG	0.488										TSP Lung(15;0.13)			A	8340357	G	A	8340357	3	1	364	1	0	0	0	0	1	0	0	0	12887	1087	38	1	519	1	PTPRD	9	8340357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8714	8340357	132873074	7116	30618											
PTPRD	5789	broad.mit.edu	37	chr9	8460414	8460414	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattgggcaaacctaccttTtataaagaagaatagcaatg	17	11	7	6	0	0	2	0	0	0	2	0	2	0	2	2	1	3	2	2	1	10	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8460414T>G	ENST00000381196.4	-	30	4415	c.3872A>C	c.(3871-3873)aAa>aCa	p.K1291T	PTPRD_ENST00000360074.4_Missense_Mutation_p.K1278T|PTPRD_ENST00000397611.3_Missense_Mutation_p.K877T|PTPRD_ENST00000356435.5_Missense_Mutation_p.K1291T|PTPRD_ENST00000355233.5_Missense_Mutation_p.K880T|PTPRD_ENST00000358503.5_Missense_Mutation_p.K1269T|PTPRD_ENST00000486161.1_Missense_Mutation_p.K880T|PTPRD_ENST00000397606.3_Missense_Mutation_p.K870T|PTPRD_ENST00000397617.3_Missense_Mutation_p.K870T|PTPRD_ENST00000540109.1_Missense_Mutation_p.K1291T|PTPRD_ENST00000537002.1_Missense_Mutation_p.K877T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1291					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AACCTACCTTTTATAAAGAAG	0.398										TSP Lung(15;0.13)			G	8460414	T	G	8460414	3	3	364	1	0	0	0	0	1	0	0	0	12887	1841	64	5	1987	5	PTPRD	9	8460414	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120057	8460414	132753017	7117	30619											
PTPRD	5789	broad.mit.edu	37	chr9	8471069	8471069	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatttcttcaaaggcacaaTtattatgtagtaacctctgc	13	14	6	8	0	3	1	1	0	2	1	3	1	3	1	1	1	2	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8471069T>A	ENST00000381196.4	-	28	3973	c.3430A>T	c.(3430-3432)Att>Ttt	p.I1144F	PTPRD_ENST00000360074.4_Missense_Mutation_p.I1131F|PTPRD_ENST00000397611.3_Missense_Mutation_p.I730F|PTPRD_ENST00000356435.5_Missense_Mutation_p.I1144F|PTPRD_ENST00000355233.5_Missense_Mutation_p.I733F|PTPRD_ENST00000358503.5_Missense_Mutation_p.I1122F|PTPRD_ENST00000486161.1_Missense_Mutation_p.I733F|PTPRD_ENST00000397606.3_Missense_Mutation_p.I723F|PTPRD_ENST00000397617.3_Missense_Mutation_p.I723F|PTPRD_ENST00000540109.1_Missense_Mutation_p.I1144F|PTPRD_ENST00000537002.1_Missense_Mutation_p.I730F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1144					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AAAGGCACAATTATTATGTAG	0.393										TSP Lung(15;0.13)			A	8471069	T	A	8471069	3	1	364	1	0	0	0	0	1	0	0	0	12887	1493	52	5	2437	5	PTPRD	9	8471069	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10655	8471069	132742362	7118	30620											
PTPRD	5789	broad.mit.edu	37	chr9	8501014	8501014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacttaccaaaatactagtgGaacttgggctggtgcaacta	14	10	9	8	0	0	0	0	0	0	0	0	1	0	1	1	3	6	2	1	3	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:8501014G>A	ENST00000381196.4	-	21	2411	c.1868C>T	c.(1867-1869)tCc>tTc	p.S623F	PTPRD_ENST00000360074.4_Missense_Mutation_p.S610F|PTPRD_ENST00000397611.3_Intron|PTPRD_ENST00000356435.5_Missense_Mutation_p.S623F|PTPRD_ENST00000355233.5_Intron|PTPRD_ENST00000358503.5_Missense_Mutation_p.S610F|PTPRD_ENST00000486161.1_Intron|PTPRD_ENST00000397606.3_Intron|PTPRD_ENST00000397617.3_Intron|PTPRD_ENST00000471274.1_5'UTR|PTPRD_ENST00000540109.1_Missense_Mutation_p.S623F|PTPRD_ENST00000537002.1_Intron	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	623	Fibronectin type-III 4.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.S623F(1)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		AATACTAGTGGAACTTGGGCT	0.443										TSP Lung(15;0.13)			A	8501014	G	A	8501014	3	1	364	1	0	0	0	0	1	0	0	0	12887	1174	41	2	4030	2	PTPRD	9	8501014	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29945	8501014	132712417	7119	30621											
TYRP1	7306	broad.mit.edu	37	chr9	12695729	12695729	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tactcagtcaaaaagactttCcttggggtaggacaggaaag	14	9	11	7	0	2	1	2	0	0	1	3	3	3	3	1	4	1	1	1	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12695729C>T	ENST00000388918.5	+	3	729	c.600C>T	c.(598-600)ttC>ttT	p.F200F	TYRP1_ENST00000381137.2_5'UTR|TYRP1_ENST00000381136.2_5'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	200					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAAAGACTTTCCTTGGGGTAG	0.448									Oculocutaneous Albinism				T	12695729	C	T	12695729	2	4	364	1	0	0	0	0	0	0	0	1	16918	854	30	2		2	TYRP1	9	12695729	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4194715	12695729	128517702	7120	30622											
TYRP1	7306	broad.mit.edu	37	chr9	12702354	12702354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctgaaccacaggatGtcgctcagtgcttggaagtt	8	12	11	10	1	2	1	1	1	1	0	4	3	3	3	2	2	2	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:12702354G>A	ENST00000388918.5	+	5	1126	c.997G>A	c.(997-999)Gtc>Atc	p.V333I	TYRP1_ENST00000381137.2_Missense_Mutation_p.V43I|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Missense_Mutation_p.V43I	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	333					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		ACCACAGGATGTCGCTCAGTG	0.463									Oculocutaneous Albinism				A	12702354	G	A	12702354	3	1	364	1	0	0	0	0	1	0	0	0	16918	1377	48	2	1011	2	TYRP1	9	12702354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6625	12702354	128511077	7121	30623											
MPDZ	8777	broad.mit.edu	37	chr9	13107046	13107046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggtgactccttctagaCtctgcccattgacagcaatg	9	11	9	12	0	2	3	0	2	2	1	3	3	3	3	2	1	2	1	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13107046C>A	ENST00000319217.7	-	47	6378	c.6131G>T	c.(6130-6132)aGt>aTt	p.S2044I	MPDZ_ENST00000381022.2_Missense_Mutation_p.S2015I|MPDZ_ENST00000541093.1_Missense_Mutation_p.S278I|MPDZ_ENST00000447879.1_Missense_Mutation_p.S2011I|MPDZ_ENST00000536827.1_Missense_Mutation_p.S1982I|MPDZ_ENST00000546205.1_Missense_Mutation_p.S2058I|MPDZ_ENST00000541718.1_Missense_Mutation_p.S2015I|MPDZ_ENST00000381015.4_Missense_Mutation_p.S2044I|MPDZ_ENST00000538841.1_Missense_Mutation_p.S903I	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2044	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCTTCTAGACTCTGCCCATT	0.448													A	13107046	C	A	13107046	3	1	364	1	0	0	0	0	1	0	0	0	9798	565	20	4	85	4	MPDZ	9	13107046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	404692	13107046	128106385	7122	30624											
MPDZ	8777	broad.mit.edu	37	chr9	13119520	13119520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttagcaaagcggcaaccGcttcttgggtggcattacga	9	10	11	11	3	1	0	0	0	1	0	1	1	1	0	2	3	4	4	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13119520G>A	ENST00000319217.7	-	39	5607	c.5360C>T	c.(5359-5361)gCg>gTg	p.A1787V	MPDZ_ENST00000381022.2_Missense_Mutation_p.A1787V|MPDZ_ENST00000541093.1_Missense_Mutation_p.A21V|MPDZ_ENST00000447879.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000536827.1_Missense_Mutation_p.A1754V|MPDZ_ENST00000546205.1_Missense_Mutation_p.A1801V|MPDZ_ENST00000541718.1_Missense_Mutation_p.A1787V|MPDZ_ENST00000381015.4_Missense_Mutation_p.A1787V|MPDZ_ENST00000538841.1_Missense_Mutation_p.A646V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1787	PDZ 11.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AGCGGCAACCGCTTCTTGGGT	0.388													A	13119520	G	A	13119520	3	1	364	1	0	0	0	0	1	0	0	0	9798	1087	38	1	797	1	MPDZ	9	13119520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12474	13119520	128093911	7123	30625											
MPDZ	8777	broad.mit.edu	37	chr9	13122139	13122139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctttacatgctgctccttCttcataaacttcatggataa	11	16	4	10	0	4	0	2	0	2	0	5	1	5	1	1	1	4	2	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13122139C>T	ENST00000319217.7	-	37	5231	c.4984G>A	c.(4984-4986)Gaa>Aaa	p.E1662K	MPDZ_ENST00000381022.2_Missense_Mutation_p.E1662K|MPDZ_ENST00000541093.1_Intron|MPDZ_ENST00000447879.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E1629K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E1676K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E1662K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E1662K|MPDZ_ENST00000538841.1_Missense_Mutation_p.E521K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1662	PDZ 10.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCTCCTTCTTCATAAACT	0.418													T	13122139	C	T	13122139	3	4	364	1	0	0	0	0	1	0	0	0	9798	922	32	2	1181	2	MPDZ	9	13122139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2619	13122139	128091292	7124	30626											
MPDZ	8777	broad.mit.edu	37	chr9	13168512	13168512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatggcacctccatgaataAtgcttcgaacgatcatcccc	12	10	6	13	2	1	1	1	1	0	0	4	3	3	1	4	1	2	2	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13168512A>G	ENST00000319217.7	-	22	3354	c.3107T>C	c.(3106-3108)aTt>aCt	p.I1036T	MPDZ_ENST00000381022.2_Missense_Mutation_p.I1036T|MPDZ_ENST00000447879.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000536827.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000546205.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000541718.1_Missense_Mutation_p.I1036T|MPDZ_ENST00000381015.4_Missense_Mutation_p.I1036T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1036	PDZ 6.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TCCATGAATAATGCTTCGAAC	0.403													G	13168512	A	G	13168512	3	3	364	1	0	0	0	0	1	0	0	0	9798	101	4	3	3118	3	MPDZ	9	13168512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46373	13168512	128044919	7125	30627											
MPDZ	8777	broad.mit.edu	37	chr9	13222443	13222443	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttctttcaatcttccaTctctatcaaggatgcaaaag	12	14	5	10	0	5	0	2	0	3	0	7	1	6	1	1	1	1	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:13222443T>G	ENST00000319217.7	-	6	783	c.536A>C	c.(535-537)gAt>gCt	p.D179A	MPDZ_ENST00000381022.2_Missense_Mutation_p.D179A|MPDZ_ENST00000447879.1_Missense_Mutation_p.D179A|MPDZ_ENST00000536827.1_Missense_Mutation_p.D179A|MPDZ_ENST00000546205.1_Missense_Mutation_p.D179A|MPDZ_ENST00000541718.1_Missense_Mutation_p.D179A|MPDZ_ENST00000381015.4_Missense_Mutation_p.D179A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	179	PDZ 1.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CAATCTTCCATCTCTATCAAG	0.388													G	13222443	T	G	13222443	3	3	364	1	0	0	0	0	1	0	0	0	9798	1435	50	5	5753	5	MPDZ	9	13222443	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53931	13222443	127990988	7126	30628											
NFIB	4781	broad.mit.edu	37	chr9	14150255	14150255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttgactccagttccctggGttatgggcgctgaggaataa	9	11	13	8	1	0	2	0	2	0	0	2	3	2	3	2	3	0	4	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14150255G>A	ENST00000380959.3	-	5	1168	c.695C>T	c.(694-696)aCc>aTc	p.T232I	NFIB_ENST00000543693.1_5'UTR|NFIB_ENST00000397575.3_Missense_Mutation_p.T232I|NFIB_ENST00000397579.2_Missense_Mutation_p.T232I|NFIB_ENST00000397581.2_Missense_Mutation_p.T232I|NFIB_ENST00000380934.4_Missense_Mutation_p.T258I|NFIB_ENST00000380924.1_5'UTR|NFIB_ENST00000380953.1_Missense_Mutation_p.T232I	NM_005596.3	NP_005587.2	O00712	NFIB_HUMAN	nuclear factor I/B	232					anterior commissure morphogenesis|chondrocyte differentiation|Clara cell differentiation|commissural neuron axon guidance|DNA replication|glial cell differentiation|lung ciliated cell differentiation|negative regulation of DNA binding|negative regulation of epithelial cell proliferation involved in lung morphogenesis|negative regulation of mesenchymal cell proliferation involved in lung development|positive regulation of transcription from RNA polymerase II promoter|principal sensory nucleus of trigeminal nerve development|Type I pneumocyte differentiation|Type II pneumocyte differentiation	cerebellar mossy fiber|nucleolus|nucleus	RNA polymerase II transcription corepressor activity|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(50;4.4e-08)|LUAD - Lung adenocarcinoma(58;0.119)|Lung(218;0.164)		AGTTCCCTGGGTTATGGGCGC	0.443			T	"MYB, HGMA2"	"adenoid cystic carcinoma, lipoma"								A	14150255	G	A	14150255	3	1	364	1	0	0	0	0	1	0	0	0	10447	1261	44	2	587	2	NFIB	9	14150255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	927812	14150255	127063176	7127	30629											
CER1	9350	broad.mit.edu	37	chr9	14722362	14722362	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcccaggtgggaagggCtcactatctgagtccctgga	7	9	15	10	0	2	1	1	1	1	0	4	3	4	3	2	5	0	1	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14722362C>T	ENST00000380911.3	-	1	353	c.309G>A	c.(307-309)gaG>gaA	p.E103E		NM_005454.2	NP_005445.1	O95813	CER1_HUMAN	cerberus 1, DAN family BMP antagonist	103					BMP signaling pathway	extracellular space	cytokine activity			endometrium(2)|large_intestine(3)|lung(6)	11				GBM - Glioblastoma multiforme(50;3.16e-06)		GTGGGAAGGGCTCACTATCTG	0.522													T	14722362	C	T	14722362	2	4	364	1	0	0	0	0	0	0	0	1	3295	796	28	2		2	CER1	9	14722362	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	572107	14722362	126491069	7128	30630											
FREM1	158326	broad.mit.edu	37	chr9	14747275	14747275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatacctgtctggggaagTgtgagtcagttgtggattcc	7	14	13	7	0	3	1	2	1	1	0	4	3	4	3	2	3	1	1	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14747275T>C	ENST00000380881.4	-	34	6814	c.5999A>G	c.(5998-6000)cAc>cGc	p.H2000R	FREM1_ENST00000422223.2_Missense_Mutation_p.H1999R|FREM1_ENST00000380880.3_Missense_Mutation_p.H1999R|FREM1_ENST00000380894.1_Missense_Mutation_p.H535R			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1999					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TCTGGGGAAGTGTGAGTCAGT	0.418													C	14747275	T	C	14747275	3	2	364	1	0	0	0	0	1	0	0	0	6096	1696	59	3	563	3	FREM1	9	14747275	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24913	14747275	126466156	7129	30631											
FREM1	158326	broad.mit.edu	37	chr9	14748498	14748498	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgactgctagctgcatggaAgatggaagaggtcttctttc	10	12	12	7	0	2	3	0	1	2	2	3	5	2	5	0	3	3	3	0	3	3	3	rs17852893		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14748498A>C	ENST00000380881.4	-	32	6515	c.5700T>G	c.(5698-5700)tcT>tcG	p.S1900S	FREM1_ENST00000422223.2_Silent_p.S1899S|FREM1_ENST00000380880.3_Silent_p.S1899S|FREM1_ENST00000380894.1_Silent_p.S435S			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1899					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGCATGGAAGATGGAAGAG	0.522													C	14748498	A	C	14748498	2	2	364	1	0	0	0	0	0	0	0	1	6096	59	3	5		5	FREM1	9	14748498	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1223	14748498	126464933	7130	30632											
FREM1	158326	broad.mit.edu	37	chr9	14770771	14770771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggggaatgcaagagtgTgatacgaggagctgttttgt	12	10	16	3	1	0	3	0	1	0	2	0	6	0	5	0	3	3	3	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14770771T>C	ENST00000380881.4	-	27	5709	c.4894A>G	c.(4894-4896)Aca>Gca	p.T1632A	FREM1_ENST00000486223.1_5'UTR|FREM1_ENST00000422223.2_Missense_Mutation_p.T1631A|FREM1_ENST00000380880.3_Missense_Mutation_p.T1631A|FREM1_ENST00000380894.1_Missense_Mutation_p.T167A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1631					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGCAAGAGTGTGATACGAGGA	0.493													C	14770771	T	C	14770771	3	2	364	1	0	0	0	0	1	0	0	0	6096	1696	59	3	1696	3	FREM1	9	14770771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22273	14770771	126442660	7131	30633											
FREM1	158326	broad.mit.edu	37	chr9	14808009	14808009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcatacactggaaaggacGcatgaagtggaacagatgga	16	6	13	6	1	1	2	1	1	0	1	1	7	1	6	0	4	2	1	0	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14808009G>A	ENST00000380881.4	-	18	3835	c.3020C>T	c.(3019-3021)gCg>gTg	p.A1007V	FREM1_ENST00000422223.2_Missense_Mutation_p.A1006V|FREM1_ENST00000380880.3_Missense_Mutation_p.A1006V			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1006					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TGGAAAGGACGCATGAAGTGG	0.453													A	14808009	G	A	14808009	3	1	364	1	0	0	0	0	1	0	0	0	6096	1087	38	1	3656	1	FREM1	9	14808009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37238	14808009	126405422	7132	30634											
FREM1	158326	broad.mit.edu	37	chr9	14819255	14819255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttaaggtatggagatcGccccaagaaaatgtgccccc	12	9	9	11	1	0	2	0	0	0	2	1	3	0	2	4	2	1	1	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:14819255G>A	ENST00000380881.4	-	15	3341	c.2526C>T	c.(2524-2526)ggC>ggT	p.G842G	FREM1_ENST00000422223.2_Silent_p.G841G|FREM1_ENST00000380880.3_Silent_p.G841G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	841					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		TATGGAGATCGCCCCAAGAAA	0.423													A	14819255	G	A	14819255	2	1	364	1	0	0	0	0	0	0	0	1	6096	1074	38	1		1	FREM1	9	14819255	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11246	14819255	126394176	7133	30635											
PSIP1	11168	broad.mit.edu	37	chr9	15479598	15479598	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaatcctacctgcaggtcGtcctcttttaggactcactt	8	14	7	12	1	2	0	1	0	1	0	5	1	4	1	3	2	2	2	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:15479598G>A	ENST00000380733.4	-	7	887	c.544C>T	c.(544-546)Cga>Tga	p.R182*	PSIP1_ENST00000380716.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380715.1_Nonsense_Mutation_p.R182*|PSIP1_ENST00000380738.4_Nonsense_Mutation_p.R182*|PSIP1_ENST00000397519.2_Nonsense_Mutation_p.R182*			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	182					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CCTGCAGGTCGTCCTCTTTTA	0.373													A	15479598	G	A	15479598	4	1	364	1	0	0	0	0	0	1	0	0	12748	1153	40	1	1117	1	PSIP1	9	15479598	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	660343	15479598	125733833	7134	30636											
BNC2	54796	broad.mit.edu	37	chr9	16727882	16727882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgtagtcgttctggttccGaactgcatggagttgtcagt	6	13	13	9	3	2	0	1	0	1	0	4	2	3	1	2	2	2	5	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:16727882G>A	ENST00000380672.4	-	3	300	c.243C>T	c.(241-243)ttC>ttT	p.F81F	BNC2_ENST00000380667.2_Intron|BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380666.2_Silent_p.F81F	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	81					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		TTCTGGTTCCGAACTGCATGG	0.468													A	16727882	G	A	16727882	2	1	364	1	0	0	0	0	0	0	0	1	1481	1049	37	1		1	BNC2	9	16727882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1248284	16727882	124485549	7135	30637											
SH3GL2	6456	broad.mit.edu	37	chr9	17786520	17786520	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttggagatgattgcaactTtggtaacaagtgcttcctca	10	13	10	8	0	1	2	1	1	0	1	2	3	2	2	1	2	4	4	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:17786520T>C	ENST00000380607.4	+	4	449	c.329T>C	c.(328-330)tTt>tCt	p.F110S	SH3GL2_ENST00000537391.1_Missense_Mutation_p.F63S	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	110	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		GATTGCAACTTTGGTAACAAG	0.468													C	17786520	T	C	17786520	3	2	364	1	0	0	0	0	1	0	0	0	14345	1841	64	3	343	3	SH3GL2	9	17786520	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1058638	17786520	123426911	7136	30638											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18639269	18639269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatctggaaaccaaaaccCtccaggggactaaaggtgaa	16	6	10	9	0	1	2	0	1	1	1	2	4	2	4	3	4	2	0	3	4	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18639269C>A	ENST00000380548.4	+	7	1033	c.694C>A	c.(694-696)Ctc>Atc	p.L232I	ADAMTSL1_ENST00000327883.7_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.L232I|ADAMTSL1_ENST00000380566.4_Missense_Mutation_p.L232I	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	232						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		AACCAAAACCCTCCAGGGGAC	0.428													A	18639269	C	A	18639269	3	1	364	1	0	0	0	0	1	0	0	0	274	681	24	4	720	4	ADAMTSL1	9	18639269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	852749	18639269	122574162	7137	30639											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18661965	18661965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcggctgagtgctacgatCtgaggagcaaccgtgtggtt	8	10	14	9	3	1	2	0	2	1	0	2	4	1	3	1	3	4	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18661965C>T	ENST00000380548.4	+	9	1318	c.979C>T	c.(979-981)Ctg>Ttg	p.L327L	ADAMTSL1_ENST00000327883.7_Silent_p.L327L|ADAMTSL1_ENST00000276935.6_Silent_p.L327L|ADAMTSL1_ENST00000380566.4_Silent_p.L327L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	327						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGCTACGATCTGAGGAGCAA	0.438													T	18661965	C	T	18661965	2	4	364	1	0	0	0	0	0	0	0	1	274	912	32	2		2	ADAMTSL1	9	18661965	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22696	18661965	122551466	7138	30640											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18680537	18680537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgtgccttctttctttgTtcattaggagagtaagtcca	9	16	8	8	0	3	1	1	0	2	1	4	2	4	1	2	1	2	2	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18680537T>C	ENST00000380566.4	+	10	1377	c.1313T>C	c.(1312-1314)gTt>gCt	p.V438A	ADAMTSL1_ENST00000327883.7_Intron|ADAMTSL1_ENST00000276935.6_Intron|ADAMTSL1_ENST00000380548.4_Intron			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1625	TSP type-1 3.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTTTCTTTGTTCATTAGGAG	0.527													C	18680537	T	C	18680537	3	2	364	1	0	0	0	0	1	0	0	0	274	1740	60	3		3	ADAMTSL1	9	18680537	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18572	18680537	122532894	7139	30641											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18721614	18721614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgcgtgaccagccgcCggcccccacagctcctgaag	7	5	11	18	3	0	2	0	2	0	0	1	2	1	2	7	1	3	1	7	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18721614C>T	ENST00000380548.4	+	15	2296	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ADAMTSL1_ENST00000276935.6_Missense_Mutation_p.R653W	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	653	TSP type-1 5.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GACCAGCCGCCGGCCCCCACA	0.602													T	18721614	C	T	18721614	3	4	364	1	0	0	0	0	1	0	0	0	274	643	23	1	2019	1	ADAMTSL1	9	18721614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41077	18721614	122491817	7140	30642											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18776887	18776887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcgtggtggggggcttcgCctacctgctccccaagacgg	4	9	14	14	3	0	1	0	0	0	1	3	1	1	1	4	5	2	2	4	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18776887C>T	ENST00000380548.4	+	19	2999	c.2660C>T	c.(2659-2661)gCc>gTc	p.A887V		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	887	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGGGCTTCGCCTACCTGCTC	0.677													T	18776887	C	T	18776887	3	4	364	1	0	0	0	0	1	0	0	0	274	739	26	2	2738	2	ADAMTSL1	9	18776887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55273	18776887	122436544	7141	30643											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777290	18777290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaacccggggagccgctaCgacgacctcgtctcccggct	6	5	12	18	6	1	0	0	0	1	0	3	3	1	1	5	3	3	2	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777290C>T	ENST00000380548.4	+	19	3402	c.3063C>T	c.(3061-3063)taC>taT	p.Y1021Y		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1021						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGAGCCGCTACGACGACCTCG	0.692													T	18777290	C	T	18777290	2	4	364	1	0	0	0	0	0	0	0	1	274	547	19	1		1	ADAMTSL1	9	18777290	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	403	18777290	122436141	7142	30644											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18777746	18777746	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgcaagatctcagcggcCcagcagctctcagcctcgga	8	6	11	16	3	2	1	2	0	2	1	5	2	2	2	2	2	5	3	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18777746C>T	ENST00000380548.4	+	19	3858	c.3519C>T	c.(3517-3519)gcC>gcT	p.A1173A		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1173	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TCTCAGCGGCCCAGCAGCTCT	0.687													T	18777746	C	T	18777746	2	4	364	1	0	0	0	0	0	0	0	1	274	610	22	2		2	ADAMTSL1	9	18777746	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	456	18777746	122435685	7143	30645											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18795491	18795491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaccaatgccttgggataCgactctgtctccattgccgt	7	11	9	14	2	2	0	0	0	2	0	3	2	2	1	5	1	3	0	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18795491C>T	ENST00000380548.4	+	20	4113	c.3774C>T	c.(3772-3774)taC>taT	p.Y1258Y	ADAMTSL1_ENST00000496521.2_3'UTR	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCTTGGGATACGACTCTGTCT	0.443													T	18795491	C	T	18795491	2	4	364	1	0	0	0	0	0	0	0	1	274	547	19	1		1	ADAMTSL1	9	18795491	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17745	18795491	122417940	7144	30646											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18889718	18889718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcggtgcagcccatcGcgtgcaaccggagagactgc	7	5	14	15	4	0	1	0	0	0	1	1	3	0	2	3	2	6	2	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18889718G>A	ENST00000380548.4	+	25	4954	c.4615G>A	c.(4615-4617)Gcg>Acg	p.A1539T	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.A240T	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1539						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GCAGCCCATCGCGTGCAACCG	0.667													A	18889718	G	A	18889718	3	1	364	1	0	0	0	0	1	0	0	0	274	1087	38	1	4717	1	ADAMTSL1	9	18889718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94227	18889718	122323713	7145	30647											
FAM154A	158297	broad.mit.edu	37	chr9	18928081	18928081	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttccaactccctctggttgGggttttctgaatcatctaca	7	15	7	12	0	4	1	1	1	3	0	6	1	6	1	2	3	2	2	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:18928081G>T	ENST00000380534.4	-	4	1673	c.1394C>A	c.(1393-1395)cCc>cAc	p.P465H	FAM154A_ENST00000380530.1_3'UTR|FAM154A_ENST00000542071.1_Missense_Mutation_p.P273H	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	465										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CCTCTGGTTGGGGTTTTCTGA	0.403													T	18928081	G	T	18928081	3	4	364	1	0	0	0	0	1	0	0	0	5508	1232	43	4	34	4	FAM154A	9	18928081	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38363	18928081	122285350	7146	30648											
RRAGA	10670	broad.mit.edu	37	chr9	19050474	19050474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcaaatacgtacgtgAtggtggtcatgtcagatccg	10	11	10	10	3	4	2	4	1	0	1	5	2	5	2	2	2	2	1	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19050474A>G	ENST00000380527.1	+	1	1103	c.817A>G	c.(817-819)Atg>Gtg	p.M273V		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	273					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						TACGTACGTGATGGTGGTCAT	0.512													G	19050474	A	G	19050474	3	3	364	1	0	0	0	0	1	0	0	0	13763	333	12	3	819	3	RRAGA	9	19050474	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	122393	19050474	122162957	7147	30649											
HAUS6	54801	broad.mit.edu	37	chr9	19102726	19102726	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccctcaagatccctccCtacggtcagcctgaggtcgc	7	7	11	16	2	2	2	2	1	0	1	5	2	4	2	4	3	2	0	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19102726C>A	ENST00000380502.3	-	0	391					NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6						cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGATCCCTCCCTACGGTCAGC	0.632													A	19102726	C	A	19102726	1	1	364	1	0	0	0	0	0	0	0	0	7025	696	24	4		4	HAUS6	9	19102726	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52252	19102726	122110705	7148	30650											
PLIN2	123	broad.mit.edu	37	chr9	19123610	19123610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctctcctcaatcctgtCtagccccttacaggcatagg	8	11	7	15	0	3	0	1	0	2	0	6	0	5	0	4	2	2	1	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19123610C>A	ENST00000276914.2	-	4	441	c.262G>T	c.(262-264)Gac>Tac	p.D88Y	PLIN2_ENST00000411567.1_Missense_Mutation_p.D88Y|PLIN2_ENST00000380464.3_Missense_Mutation_p.D88Y|PLIN2_ENST00000380465.3_Missense_Mutation_p.D88Y	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	88					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						TCAATCCTGTCTAGCCCCTTA	0.413													A	19123610	C	A	19123610	3	1	364	1	0	0	0	0	1	0	0	0	12167	913	32	4	1071	4	PLIN2	9	19123610	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20884	19123610	122089821	7149	30651											
DENND4C	55667	broad.mit.edu	37	chr9	19369969	19369969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcacagcaaatgaagccaGgcatgaaaagacaaaggtaa	19	6	9	7	0	1	3	1	2	0	1	1	3	1	3	1	2	2	3	1	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19369969G>T	ENST00000380432.2	+	26	4837	c.4804G>T	c.(4804-4806)Ggc>Tgc	p.G1602C	DENND4C_ENST00000602925.1_Missense_Mutation_p.G1838C|DENND4C_ENST00000434457.2_Missense_Mutation_p.G1887C			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1602						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						AATGAAGCCAGGCATGAAAAG	0.333													T	19369969	G	T	19369969	3	4	364	1	0	0	0	0	1	0	0	0	4474	1000	35	4	4906	4	DENND4C	9	19369969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246359	19369969	121843462	7150	30652											
SLC24A2	25769	broad.mit.edu	37	chr9	19550257	19550257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaggctggtcctcctcctCatcagcggtctgtggtagaa	7	10	13	11	1	3	2	2	0	1	2	6	3	6	2	3	4	1	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:19550257C>T	ENST00000341998.2	-	7	1418	c.1357G>A	c.(1357-1359)Gag>Aag	p.E453K	SLC24A2_ENST00000286344.3_Missense_Mutation_p.E436K	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	453					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		TCCTCCTCCTCATCAGCGGTC	0.458													T	19550257	C	T	19550257	3	4	364	1	0	0	0	0	1	0	0	0	14560	835	29	2	644	2	SLC24A2	9	19550257	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180288	19550257	121663174	7151	30653											
MLLT3	4300	broad.mit.edu	37	chr9	20414197	20414197	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggttctttgaaggcaCttttatgttctctggagtct	7	17	11	6	0	3	1	0	1	3	0	4	3	3	3	0	4	0	3	0	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:20414197C>T	ENST00000355930.6	-	0	905				MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Missense_Mutation_p.S213N|MLLT3_ENST00000380338.4_Missense_Mutation_p.S216N			P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		TTTGAAGGCACTTTTATGTTC	0.393			T	MLL	ALL								T	20414197	C	T	20414197	1	4	364	1	0	0	0	0	0	0	0	0	9703	565	20	2		2	MLLT3	9	20414197	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	863940	20414197	120799234	7152	30654											
PTPLAD2	401494	broad.mit.edu	37	chr9	21015896	21015896	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagattattttgccttcttaCctaaccatatccaatagatt	12	16	4	9	0	1	2	0	0	1	2	2	3	2	2	4	0	3	0	4	0	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21015896C>T	ENST00000495827.2	-	4	429		c.e4+1		PTPLAD2_ENST00000488436.1_5'UTR|PTPLAD2_ENST00000513293.2_Splice_Site	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2						fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	lyase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGCCTTCTTACCTAACCATAT	0.378													T	21015896	C	T	21015896	5	4	364	1	0	0	0	0	0	0	1	0	12862	521	18	2	330	2	PTPLAD2	9	21015896	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	601699	21015896	120197535	7153	30655											
IFNW1	3467	broad.mit.edu	37	chr9	21141206	21141206	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactacctgcagcaagcAggtctccaggtgttgcagtt	8	10	10	13	0	1	0	0	0	1	0	3	0	2	0	3	2	5	6	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21141206A>T	ENST00000380229.2	-	1	938	c.364T>A	c.(364-366)Tgc>Agc	p.C122S		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	122					cell cycle arrest|defense response|response to virus	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGCAGCAAGCAGGTCTCCAGG	0.557													T	21141206	A	T	21141206	3	4	364	1	0	0	0	0	1	0	0	0	7610	188	7	5	227	5	IFNW1	9	21141206	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	125310	21141206	120072225	7154	30656											
IFNA21	3452	broad.mit.edu	37	chr9	21166323	21166323	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgttcccaagtagcagAtgagtcctttgtgctgaaga	9	12	11	9	0	1	4	0	2	1	2	3	4	3	4	2	0	2	5	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21166323A>G	ENST00000380225.1	-	1	336	c.289T>C	c.(289-291)Tct>Cct	p.S97P		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	97					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CAAGTAGCAGATGAGTCCTTT	0.498													G	21166323	A	G	21166323	3	3	364	1	0	0	0	0	1	0	0	0	7596	333	12	3	284	3	IFNA21	9	21166323	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25117	21166323	120047108	7155	30657											
IFNA7	3444	broad.mit.edu	37	chr9	21201944	21201944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacagagatggcttgaGtcttctggaactggtggcca	9	9	16	7	0	2	2	0	1	2	1	2	6	2	5	1	6	1	1	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21201944G>A	ENST00000239347.3	-	1	260	c.221C>T	c.(220-222)aCt>aTt	p.T74I		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	74					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GATGGCTTGAGTCTTCTGGAA	0.488													A	21201944	G	A	21201944	3	1	364	1	0	0	0	0	1	0	0	0	7600	1029	36	2	352	2	IFNA7	9	21201944	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35621	21201944	120011487	7156	30658											
KLHL9	55958	broad.mit.edu	37	chr9	21333832	21333832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaaagtttccaatgacagCaataccatgctggtaacggg	15	8	10	8	1	0	2	0	1	0	1	1	2	1	2	2	2	4	4	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21333832C>A	ENST00000359039.4	-	1	1547	c.1027G>T	c.(1027-1029)Gct>Tct	p.A343S	KLHL9_ENST00000537938.1_Missense_Mutation_p.A275S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	343					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		CCAATGACAGCAATACCATGC	0.408													A	21333832	C	A	21333832	3	1	364	1	0	0	0	0	1	0	0	0	8454	710	25	4	830	4	KLHL9	9	21333832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131888	21333832	119879599	7157	30659											
KLHL9	55958	broad.mit.edu	37	chr9	21334319	21334319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtactcaataaagcaggaaaGttcttcaggatgaaattatt	16	12	8	5	0	3	1	2	1	1	0	3	3	3	3	0	2	2	3	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21334319G>A	ENST00000359039.4	-	1	1060	c.540C>T	c.(538-540)aaC>aaT	p.N180N	KLHL9_ENST00000537938.1_Silent_p.N112N			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	180	BACK.				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		AAGCAGGAAAGTTCTTCAGGA	0.378													A	21334319	G	A	21334319	2	1	364	1	0	0	0	0	0	0	0	1	8454	1020	36	2		2	KLHL9	9	21334319	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	487	21334319	119879112	7158	30660											
IFNA8	3445	broad.mit.edu	37	chr9	21409185	21409185	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatctacaatggccttgActttttatttactggtggcc	9	15	7	10	0	1	1	0	1	1	0	1	1	1	1	2	3	3	0	2	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21409185A>C	ENST00000380205.1	+	1	40	c.10A>C	c.(10-12)Act>Cct	p.T4P		NM_002170.3	NP_002161.2	P32881	IFNA8_HUMAN	interferon, alpha 8	4					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	9				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.0174)		AATGGCCTTGACTTTTTATTT	0.498													C	21409185	A	C	21409185	3	2	364	1	0	0	0	0	1	0	0	0	7601	275	10	5	12	5	IFNA8	9	21409185	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	74866	21409185	119804246	7159	30661											
CDKN2A	1029	broad.mit.edu	37	chr9	21971038	21971038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacggccccaggcatcgCgcacgtccagccgcgccccg	6	2	13	20	7	0	1	0	0	0	1	2	1	1	1	6	2	1	3	6	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:21971038C>T	ENST00000304494.5	-	2	590	c.320G>A	c.(319-321)cGc>cAc	p.R107H	CDKN2A_ENST00000497750.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000361570.3_Silent_p.A162A|CDKN2A_ENST00000530628.2_Silent_p.A121A|CDKN2A_ENST00000579755.1_Silent_p.A121A|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R107H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R56H|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R56H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R107H|RP11-145E5.5_ENST00000404796.2_Intron	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	107			R -> C (in CMM2).|R -> H.		cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CCAGGCATCGCGCACGTCCAG	0.746		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971038	C	T	21971038	3	4	364	1	0	0	0	0	1	0	0	0	3191	768	27	1	158	1	CDKN2A	9	21971038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561853	21971038	119242393	7160	30662											
CDKN2B	1030	broad.mit.edu	37	chr9	22006082	22006082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccccaggcatcgcgcacGtccagccgcgccccggcccg	5	2	12	22	8	0	0	0	0	0	0	2	1	1	0	7	2	1	2	7	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:22006082G>A	ENST00000276925.6	-	2	730	c.321C>T	c.(319-321)gaC>gaT	p.D107D	CDKN2B-AS1_ENST00000584816.1_RNA|CDKN2B-AS1_ENST00000584351.1_RNA|CDKN2B-AS1_ENST00000584637.1_RNA|CDKN2B-AS1_ENST00000580576.1_RNA|CDKN2B-AS1_ENST00000455933.2_RNA|CDKN2B-AS1_ENST00000583719.1_RNA|CDKN2B-AS1_ENST00000582072.1_RNA|CDKN2B-AS1_ENST00000577551.1_RNA|CDKN2B-AS1_ENST00000468603.2_RNA|CDKN2B-AS1_ENST00000580467.1_RNA|CDKN2B-AS1_ENST00000581051.1_RNA|CDKN2B_ENST00000380142.4_3'UTR|CDKN2B-AS1_ENST00000428597.1_RNA|CDKN2B-AS1_ENST00000585267.1_RNA|CDKN2B-AS1_ENST00000582301.1_RNA|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2B-AS1_ENST00000584020.1_RNA	NM_004936.3|NM_078487.2	NP_004927.2|NP_511042.1	P42772	CDN2B_HUMAN	cyclin-dependent kinase inhibitor 2B (p15, inhibits CDK4)	107					cell cycle arrest|cellular response to nutrient|G1 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|megakaryocyte differentiation|mitotic cell cycle G1/S transition checkpoint|negative regulation of epithelial cell proliferation|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0(1)|p.0?(1)		lung(2)	2		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;1.31e-280)|Lung NSC(2;2.28e-131)|all_lung(2;2.11e-123)|Glioma(2;5.66e-57)|all_neural(2;3.05e-50)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;8.01e-33)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00369)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;3.29e-71)|Epithelial(2;9.08e-60)|LUSC - Lung squamous cell carcinoma(2;5.8e-46)|LUAD - Lung adenocarcinoma(2;1.43e-25)|BRCA - Breast invasive adenocarcinoma(2;5.37e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;6.92e-07)|KIRC - Kidney renal clear cell carcinoma(2;8.63e-07)|OV - Ovarian serous cystadenocarcinoma(39;0.014)|COAD - Colon adenocarcinoma(8;0.143)		CATCGCGCACGTCCAGCCGCG	0.731													A	22006082	G	A	22006082	2	1	364	1	0	0	0	0	0	0	0	1	3194	1136	40	1		1	CDKN2B	9	22006082	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35044	22006082	119207349	7161	30663											
PLAA	9373	broad.mit.edu	37	chr9	26919311	26919311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tataaacactaacttacctgTaaatggatctgaaaagctgg	16	11	7	7	0	1	1	0	1	1	0	1	2	1	2	1	2	4	2	1	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26919311T>C	ENST00000397292.3	-	9	1831	c.1414A>G	c.(1414-1416)Aca>Gca	p.T472A	PLAA_ENST00000520884.1_Missense_Mutation_p.T472A|PLAA_ENST00000520641.1_5'UTR	NM_001031689.2	NP_001026859.1	Q9Y263	PLAP_HUMAN	phospholipase A2-activating protein	472					phospholipid metabolic process|signal transduction		phospholipase A2 activator activity			breast(1)|endometrium(7)|kidney(2)|large_intestine(3)|lung(3)|prostate(1)	17		all_neural(3;3.53e-10)|Glioma(3;2.71e-09)		Lung(218;1.32e-05)|LUSC - Lung squamous cell carcinoma(38;0.00011)		AACTTACCTGTAAATGGATCT	0.303													C	26919311	T	C	26919311	3	2	364	1	0	0	0	0	1	0	0	0	12088	1638	57	3	997	3	PLAA	9	26919311	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4913229	26919311	114294120	7162	30664											
IFT74	80173	broad.mit.edu	37	chr9	26984505	26984505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgctttcagggctgagaCtttagctgttgagataaaag	11	14	11	5	0	1	2	1	2	0	2	1	4	1	2	0	1	2	4	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26984505C>T	ENST00000443698.1	+	6	584	c.413C>T	c.(412-414)aCt>aTt	p.T138I	IFT74_ENST00000433700.1_Missense_Mutation_p.T138I|IFT74_ENST00000380062.5_Missense_Mutation_p.T138I|IFT74_ENST00000429045.2_Missense_Mutation_p.T138I	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	138						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		AGGGCTGAGACTTTAGCTGTT	0.274													T	26984505	C	T	26984505	3	4	364	1	0	0	0	0	1	0	0	0	7621	565	20	2	431	2	IFT74	9	26984505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65194	26984505	114228926	7163	30665											
LRRC19	64922	broad.mit.edu	37	chr9	26995813	26995813	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgacaacaacaccaacAagaaaagcccaactttttcc	18	6	4	13	0	0	2	0	1	0	1	1	2	1	2	3	0	5	0	3	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:26995813A>G	ENST00000380055.5	-	5	929	c.819T>C	c.(817-819)ctT>ctC	p.L273L	IFT74_ENST00000433700.1_Intron|IFT74_ENST00000380062.5_Intron|LRRC19_ENST00000482770.1_5'UTR|IFT74_ENST00000443698.1_Intron|IFT74_ENST00000429045.2_Intron	NM_022901.2	NP_075052.1	Q9H756	LRC19_HUMAN	leucine rich repeat containing 19	273						integral to membrane				breast(1)|endometrium(2)|kidney(1)|lung(2)	6		all_neural(11;1.81e-09)		Lung(218;1.06e-05)|LUSC - Lung squamous cell carcinoma(38;0.0001)		CAACACCAACAAGAAAAGCCC	0.333													G	26995813	A	G	26995813	2	3	364	1	0	0	0	0	0	0	0	1	9045	117	5	3		3	LRRC19	9	26995813	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11308	26995813	114217618	7164	30666											
TEK	7010	broad.mit.edu	37	chr9	27157963	27157963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataggaagggactttgaaGccttaatgaaccagcaccag	14	7	10	10	0	0	2	0	2	0	0	0	4	0	4	4	2	3	1	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27157963G>A	ENST00000380036.4	+	2	629	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	TEK_ENST00000519097.1_Intron|TEK_ENST00000406359.4_Missense_Mutation_p.A63T	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	63	Ig-like C2-type 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		GGACTTTGAAGCCTTAATGAA	0.478													A	27157963	G	A	27157963	3	1	364	1	0	0	0	0	1	0	0	0	15851	971	34	2	193	2	TEK	9	27157963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162150	27157963	114055468	7165	30667											
TEK	7010	broad.mit.edu	37	chr9	27168541	27168541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactgtggacaagggagataAcgtgaacatatctttcaaaa	16	9	10	6	1	2	2	1	1	1	1	2	5	2	3	0	2	2	0	0	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27168541A>G	ENST00000380036.4	+	3	855	c.413A>G	c.(412-414)aAc>aGc	p.N138S	TEK_ENST00000519097.1_Missense_Mutation_p.N34S|TEK_ENST00000406359.4_Missense_Mutation_p.N138S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	138					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AAGGGAGATAACGTGAACATA	0.353													G	27168541	A	G	27168541	3	3	364	1	0	0	0	0	1	0	0	0	15851	43	2	3	423	3	TEK	9	27168541	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10578	27168541	114044890	7166	30668											
TEK	7010	broad.mit.edu	37	chr9	27192502	27192502	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagtgacaaatgagattgTtacactcaactatttggaac	14	12	7	8	0	2	2	2	2	0	1	2	4	2	3	0	1	3	1	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27192502T>C	ENST00000380036.4	+	11	1947	c.1505T>C	c.(1504-1506)gTt>gCt	p.V502A	TEK_ENST00000519097.1_Missense_Mutation_p.V355A|TEK_ENST00000406359.4_Missense_Mutation_p.V459A	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	502	Fibronectin type-III 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		AATGAGATTGTTACACTCAAC	0.473													C	27192502	T	C	27192502	3	2	364	1	0	0	0	0	1	0	0	0	15851	1725	60	3	1547	3	TEK	9	27192502	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23961	27192502	114020929	7167	30669											
IFNK	56832	broad.mit.edu	37	chr9	27524785	27524785	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgagatgaaaccctcaGaagccagggtcccccagctg	13	5	11	12	0	1	4	1	2	0	3	2	5	2	4	4	1	3	1	4	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27524785G>T	ENST00000276943.2	+	1	474	c.451G>T	c.(451-453)Gaa>Taa	p.E151*	MOB3B_ENST00000262244.5_Intron	NM_020124.2	NP_064509.2	Q9P0W0	IFNK_HUMAN	interferon, kappa	151					cytokine-mediated signaling pathway|defense response|natural killer cell activation|negative regulation of cell proliferation|positive regulation of innate immune response|regulation of transcription, DNA-dependent|response to virus	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			large_intestine(1)	1		all_neural(11;7.9e-11)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.000158)		GAAACCCTCAGAAGCCAGGGT	0.443													T	27524785	G	T	27524785	4	4	364	1	0	0	0	0	0	1	0	0	7609	943	33	4	453	4	IFNK	9	27524785	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332283	27524785	113688646	7168	30670											
C9orf72	203228	broad.mit.edu	37	chr9	27548406	27548406	+	Frame_Shift_Del	DEL	T	T	-																															tccgaagagatttaaagggcTtttttcccttctgcctaaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27548406delT	ENST00000380003.3	-	11	1337	c.1274delA	c.(1273-1275)aagfs	p.K425fs	C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	425										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TTTAAAGGGCTTTTTTCCCTT	0.318													-	27548406	T	-	27548406	7	5	364	1	0	1	0	1	0	0	0	0	2521	1609	56	0	175	0	C9orf72	9	27548406	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	23621	27548406	113665025	7169	30671											
LINGO2	158038	broad.mit.edu	37	chr9	27949356	27949356	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccaggaaatcacaggctgCgggtctccatctgcactgca	10	7	10	14	1	3	0	1	0	2	0	4	1	3	1	2	3	3	3	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949356C>T	ENST00000379992.2	-	6	1763	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	LINGO2_ENST00000308675.3_Silent_p.P438P	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	438	Ig-like C2-type.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		TCACAGGCTGCGGGTCTCCAT	0.517													T	27949356	C	T	27949356	2	4	364	1	0	0	0	0	0	0	0	1	8876	755	27	1		1	LINGO2	9	27949356	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	400950	27949356	113264075	7170	30672											
LINGO2	158038	broad.mit.edu	37	chr9	27949585	27949585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagatccagagaaggCggcagtcacaggccagaggg	12	3	16	10	1	1	3	1	0	0	3	2	4	2	3	2	4	1	3	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:27949585C>T	ENST00000379992.2	-	6	1534	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R362H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	362	LRRCT.					integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CCAGAGAAGGCGGCAGTCACA	0.547													T	27949585	C	T	27949585	3	4	364	1	0	0	0	0	1	0	0	0	8876	768	27	1	739	1	LINGO2	9	27949585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229	27949585	113263846	7171	30673											
ACO1	48	broad.mit.edu	37	chr9	32408516	32408516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcttctcttaggggtGtgcccgctgtggttgacttt	2	18	11	10	1	3	1	0	1	3	0	4	1	3	1	1	3	1	2	1	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32408516G>A	ENST00000309951.6	+	4	409	c.271G>A	c.(271-273)Gtg>Atg	p.V91M	ACO1_ENST00000379923.1_Missense_Mutation_p.V91M|ACO1_ENST00000541043.1_5'UTR	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TCTTAGGGGTGTGCCCGCTGT	0.423													A	32408516	G	A	32408516	3	1	364	1	0	0	0	0	1	0	0	0	146	1377	48	2	281	2	ACO1	9	32408516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4458931	32408516	108804915	7172	30674											
ACO1	48	broad.mit.edu	37	chr9	32425917	32425917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgataacactgaattcaccCttgctcatggttctgtggtc	9	14	8	10	0	3	2	2	2	1	0	4	2	3	2	1	2	2	2	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32425917C>A	ENST00000309951.6	+	11	1408	c.1270C>A	c.(1270-1272)Ctt>Att	p.L424I	ACO1_ENST00000379923.1_Missense_Mutation_p.L424I|ACO1_ENST00000541043.1_Missense_Mutation_p.L325I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		TGAATTCACCCTTGCTCATGG	0.413													A	32425917	C	A	32425917	3	1	364	1	0	0	0	0	1	0	0	0	146	681	24	4	1308	4	ACO1	9	32425917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17401	32425917	108787514	7173	30675											
TOPORS	10210	broad.mit.edu	37	chr9	32541485	32541485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagagacacaatgttaCtgggctggttctccaaatca	12	12	9	8	0	2	2	1	1	1	1	3	3	2	2	1	2	1	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32541485C>A	ENST00000360538.2	-	3	3154	c.3038G>T	c.(3037-3039)aGt>aTt	p.S1013I	TOPORS_ENST00000379858.1_Missense_Mutation_p.S948I	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	1013					DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CACAATGTTACTGGGCTGGTT	0.418													A	32541485	C	A	32541485	3	1	364	1	0	0	0	0	1	0	0	0	16471	565	20	4	103	4	TOPORS	9	32541485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115568	32541485	108671946	7174	30676											
TOPORS	10210	broad.mit.edu	37	chr9	32542146	32542146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtattttcgtttccctcCaggcttttcatttctcaccc	4	20	4	13	1	2	0	2	0	1	0	6	0	4	0	3	1	0	3	3	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32542146C>T	ENST00000360538.2	-	3	2493	c.2377G>A	c.(2377-2379)Gga>Aga	p.G793R	TOPORS_ENST00000379858.1_Missense_Mutation_p.G728R	NM_005802.4	NP_005793.2	Q9NS56	TOPRS_HUMAN	topoisomerase I binding, arginine/serine-rich, E3 ubiquitin protein ligase	793	Interaction with TOP1.				DNA damage response, signal transduction resulting in induction of apoptosis|maintenance of protein location in nucleus|proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation|transcription, DNA-dependent	nuclear speck|PML body	antigen binding|DNA binding|DNA topoisomerase I binding|SUMO ligase activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.0018)		CGTTTCCCTCCAGGCTTTTCA	0.453													T	32542146	C	T	32542146	3	4	364	1	0	0	0	0	1	0	0	0	16471	603	21	2	764	2	TOPORS	9	32542146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	32542146	108671285	7175	30677											
TAF1L	138474	broad.mit.edu	37	chr9	32630510	32630510	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaatatccaagacagacaAattgctctcatcttgaaata	17	10	6	8	0	2	3	1	1	2	2	4	4	3	4	1	1	1	1	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32630510A>G	ENST00000242310.4	-	1	5157	c.5068T>C	c.(5068-5070)Ttg>Ctg	p.L1690L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1690					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AAGACAGACAAATTGCTCTCA	0.493													G	32630510	A	G	32630510	2	3	364	1	0	0	0	0	0	0	0	1	15620	11	1	3		3	TAF1L	9	32630510	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	88364	32630510	108582921	7176	30678											
APTX	54840	broad.mit.edu	37	chr9	32973503	32973503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgcagaatcactgtGtccagtgcttcctgagatgt	8	12	11	10	0	2	2	1	1	1	2	4	3	4	2	2	1	2	3	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:32973503G>A	ENST00000379817.2	-	7	1218	c.1022C>T	c.(1021-1023)aCa>aTa	p.T341I	APTX_ENST00000379819.1_Missense_Mutation_p.T355I|APTX_ENST00000379825.2_3'UTR|APTX_ENST00000397172.3_Missense_Mutation_p.T283I|APTX_ENST00000468275.1_Missense_Mutation_p.T341I|APTX_ENST00000476858.1_Missense_Mutation_p.T301I|APTX_ENST00000463596.1_Missense_Mutation_p.T341I|APTX_ENST00000436040.2_3'UTR|APTX_ENST00000309615.3_3'UTR|APTX_ENST00000379813.3_Missense_Mutation_p.T341I			Q7Z2E3	APTX_HUMAN	aprataxin	355					cell death|double-strand break repair|regulation of protein stability|response to hydrogen peroxide|single strand break repair	chromatin|nucleolus|nucleoplasm	chromatin binding|damaged DNA binding|DNA 5'-adenosine monophosphate hydrolase activity|double-stranded DNA binding|double-stranded RNA binding|phosphoglycolate phosphatase activity|phosphoprotein binding|polynucleotide 3'-phosphatase activity|protein N-terminus binding|zinc ion binding			endometrium(1)|lung(1)|ovary(2)|prostate(2)	6			LUSC - Lung squamous cell carcinoma(29;0.0302)	GBM - Glioblastoma multiforme(74;0.105)		GAATCACTGTGTCCAGTGCTT	0.542								Editing and processing nucleases					A	32973503	G	A	32973503	3	1	364	1	0	0	0	0	1	0	0	0	823	1377	48	2	10	2	APTX	9	32973503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	342993	32973503	108239928	7177	30679											
DNAJA1	3301	broad.mit.edu	37	chr9	33029970	33029970	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctctgcaaaagaatgtgaTttgtgacaaatgtgaaggta	14	11	12	4	0	1	4	0	3	1	1	1	4	1	4	0	2	1	3	0	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33029970T>G	ENST00000330899.4	+	4	581	c.398T>G	c.(397-399)aTt>aGt	p.I133S	DNAJA1_ENST00000544625.1_De_novo_Start_InFrame|DNAJA1_ENST00000495015.1_Intron	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	133					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AAGAATGTGATTTGTGACAAA	0.328													G	33029970	T	G	33029970	3	3	364	1	0	0	0	0	1	0	0	0	4650	1493	52	5	408	5	DNAJA1	9	33029970	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56467	33029970	108183461	7178	30680											
SMU1	55234	broad.mit.edu	37	chr9	33073796	33073796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtactgcataataaggCggatcacactgaaagaaaac	18	7	8	8	1	2	2	2	1	0	1	2	3	2	3	0	2	3	2	0	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33073796C>T	ENST00000397149.3	-	2	85	c.35G>A	c.(34-36)cGc>cAc	p.R12H	SMU1_ENST00000536631.1_Intron	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	12	LisH.					cytoplasm|nucleus				endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		CATAATAAGGCGGATCACACT	0.443													T	33073796	C	T	33073796	3	4	364	1	0	0	0	0	1	0	0	0	14911	768	27	1	1550	1	SMU1	9	33073796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43826	33073796	108139635	7179	30681											
BAG1	573	broad.mit.edu	37	chr9	33256830	33256830	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctccaagatcttcataAactgctctattgtggctttt	8	17	5	11	0	4	1	1	0	3	1	6	1	5	1	2	1	2	2	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33256830A>C	ENST00000472232.3	-	5	940	c.854T>G	c.(853-855)tTt>tGt	p.F285C	BAG1_ENST00000379704.2_Missense_Mutation_p.F170C|BAG1_ENST00000467389.2_5'UTR	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314	Q99933	BAG1_HUMAN	BCL2-associated athanogene	285	BAG.|Interaction with PPP1R15A.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00506)			GATCTTCATAAACTGCTCTAT	0.393													C	33256830	A	C	33256830	3	2	364	1	0	0	0	0	1	0	0	0	1291	14	1	5	195	5	BAG1	9	33256830	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	183034	33256830	107956601	7180	30682											
NFX1	4799	broad.mit.edu	37	chr9	33295380	33295380	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtagtatctcctttctccCgaggcaaacagaaccatgtg	12	10	8	11	1	2	1	0	0	2	1	4	2	2	1	3	1	2	3	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33295380C>T	ENST00000379540.3	+	2	1050	c.988C>T	c.(988-990)Cga>Tga	p.R330*	NFX1_ENST00000379521.4_Nonsense_Mutation_p.R330*|NFX1_ENST00000318524.6_Nonsense_Mutation_p.R330*	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1	330					inflammatory response|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|ligase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		TCCTTTCTCCCGAGGCAAACA	0.408													T	33295380	C	T	33295380	4	4	364	1	0	0	0	0	0	1	0	0	10463	644	23	1	994	1	NFX1	9	33295380	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38550	33295380	107918051	7181	30683											
AQP3	360	broad.mit.edu	37	chr9	33442479	33442479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgtaggggtcaacaatgGccagcacacacacgataagg	13	7	12	9	1	1	0	1	0	0	0	1	1	1	0	1	4	2	3	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442479G>T	ENST00000297991.4	-	5	610	c.530C>A	c.(529-531)gCc>gAc	p.A177D	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	177					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GTCAACAATGGCCAGCACACA	0.612													T	33442479	G	T	33442479	3	4	364	1	0	0	0	0	1	0	0	0	830	1203	42	4	356	4	AQP3	9	33442479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147099	33442479	107770952	7182	30684											
AQP3	360	broad.mit.edu	37	chr9	33442895	33442895	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtgtccagaggggtaGgtagcaaagatgccggctgt	10	8	15	8	1	0	2	0	0	0	2	2	2	2	2	3	4	2	4	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33442895G>T	ENST00000297991.4	-	4	527	c.447C>A	c.(445-447)acC>acA	p.T149T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	149					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		CAGAGGGGTAGGTAGCAAAGA	0.552													T	33442895	G	T	33442895	2	4	364	1	0	0	0	0	0	0	0	1	830	987	35	4		4	AQP3	9	33442895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416	33442895	107770536	7183	30685											
NOL6	65083	broad.mit.edu	37	chr9	33466321	33466321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccggtcatgggctccaCgtaggccggacagggcttat	7	9	13	12	3	1	0	1	0	0	0	2	1	2	1	3	5	1	3	3	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33466321C>T	ENST00000379471.2	-	17	2281	c.2194G>A	c.(2194-2196)Gtg>Atg	p.V732M	NOL6_ENST00000455041.2_Missense_Mutation_p.V680M|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	732					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ATGGGCTCCACGTAGGCCGGA	0.612											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33466321	C	T	33466321	3	4	364	1	0	0	0	0	1	0	0	0	10601	536	19	1	1286	1	NOL6	9	33466321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23426	33466321	107747110	7184	30686											
NOL6	65083	broad.mit.edu	37	chr9	33467152	33467152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctggtggggaataaggcGcttctgggacatagaggctg	9	8	16	8	1	1	1	0	0	1	1	1	3	1	3	1	6	0	2	1	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33467152G>A	ENST00000379471.2	-	14	1921	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	NOL6_ENST00000455041.2_Missense_Mutation_p.R560C|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	612					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		GGAATAAGGCGCTTCTGGGAC	0.607											OREG0019137	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33467152	G	A	33467152	3	1	364	1	0	0	0	0	1	0	0	0	10601	1087	38	1	1658	1	NOL6	9	33467152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	831	33467152	107746279	7185	30687											
NOL6	65083	broad.mit.edu	37	chr9	33468871	33468871	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaaacccaccctggccCtgaaagagacagggagaggc	13	3	12	13	0	0	3	0	1	0	2	0	5	0	3	4	3	1	1	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33468871C>A	ENST00000379471.2	-	8	1114		c.e8-1		NOL6_ENST00000455041.2_Splice_Site|NOL6_ENST00000464829.1_Splice_Site			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)						rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		CACCCTGGCCCTGAAAGAGAC	0.592													A	33468871	C	A	33468871	5	1	364	1	0	0	0	0	0	0	1	0	10601	695	24	4	2490	4	NOL6	9	33468871	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1719	33468871	107744560	7186	30688											
PRSS3	5646	broad.mit.edu	37	chr9	33797979	33797979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactctcctcacctgccgTcatcaatgcccgcgtgtcca	8	9	6	18	3	4	0	3	0	1	0	6	0	5	0	5	0	3	0	5	0	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33797979T>C	ENST00000361005.5	+	3	524	c.524T>C	c.(523-525)gTc>gCc	p.V175A	RP11-133O22.6_ENST00000454429.2_RNA|PRSS3_ENST00000429677.3_Missense_Mutation_p.V111A|PRSS3_ENST00000379405.3_Missense_Mutation_p.V118A|PRSS3_ENST00000342836.4_Missense_Mutation_p.V132A	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	175	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			TCACCTGCCGTCATCAATGCC	0.562													C	33797979	T	C	33797979	3	2	364	1	0	0	0	0	1	0	0	0	12707	1667	58	3	578	3	PRSS3	9	33797979	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	329108	33797979	107415452	7187	30689											
UBAP2	55833	broad.mit.edu	37	chr9	33926987	33926987	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttccgccatacactcacCgggtaggcaggaagcagtcc	10	6	12	13	2	1	0	1	0	0	0	3	2	3	1	4	3	2	4	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:33926987C>T	ENST00000379238.1	-	21	2580	c.2463G>A	c.(2461-2463)ccG>ccA	p.P821P	UBAP2_ENST00000449054.1_Splice_Site_p.P821P|UBAP2_ENST00000360802.1_Splice_Site_p.P821P|UBAP2_ENST00000379239.4_Splice_Site_p.P554P|UBAP2_ENST00000379235.1_Splice_Site_p.P60P|UBAP2_ENST00000539807.1_Splice_Site_p.P576P			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	821										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		ATACACTCACCGGGTAGGCAG	0.647													T	33926987	C	T	33926987	5	4	364	1	0	0	0	0	0	0	1	0	16939	666	23	1	932	1	UBAP2	9	33926987	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129008	33926987	107286444	7188	30690											
UBAP1	51271	broad.mit.edu	37	chr9	34241252	34241252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaatcgaagaagccgagCgggaagcagagtgcaaaatt	18	4	13	6	3	0	3	0	0	0	3	1	6	0	4	1	1	4	2	1	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34241252C>T	ENST00000536252.1	+	5	627	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	UBAP1_ENST00000543944.1_Missense_Mutation_p.R113W|UBAP1_ENST00000359544.2_Missense_Mutation_p.R77W|UBAP1_ENST00000297661.4_Missense_Mutation_p.R77W|UBAP1_ENST00000540348.1_Missense_Mutation_p.R77W|UBAP1_ENST00000545103.1_Missense_Mutation_p.R141W|UBAP1_ENST00000379186.4_Missense_Mutation_p.R77W	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	77						cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			AGAAGCCGAGCGGGAAGCAGA	0.458													T	34241252	C	T	34241252	3	4	364	1	0	0	0	0	1	0	0	0	16938	759	27	1	476	1	UBAP1	9	34241252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314265	34241252	106972179	7189	30691											
KIF24	347240	broad.mit.edu	37	chr9	34256112	34256112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcactacccatgtgttCgtgggagaaaagtacagtct	10	11	10	10	1	2	1	1	0	1	1	3	2	2	1	1	1	3	3	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256112C>T	ENST00000379166.2	-	11	3612	c.3493G>A	c.(3493-3495)Gaa>Aaa	p.E1165K	KIF24_ENST00000379174.3_Missense_Mutation_p.E1031K|KIF24_ENST00000345050.2_Missense_Mutation_p.E1031K|KIF24_ENST00000402558.2_Missense_Mutation_p.E1165K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1165					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCCATGTGTTCGTGGGAGAAA	0.582													T	34256112	C	T	34256112	3	4	364	1	0	0	0	0	1	0	0	0	8350	893	31	1	625	1	KIF24	9	34256112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14860	34256112	106957319	7190	30692											
KIF24	347240	broad.mit.edu	37	chr9	34256522	34256522	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggatcctctcctgggacaGcatgaccgtttttcacagtg	8	12	10	11	1	2	1	1	1	1	0	4	3	3	3	3	2	1	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34256522G>C	ENST00000379166.2	-	11	3202	c.3083C>G	c.(3082-3084)gCt>gGt	p.A1028G	KIF24_ENST00000379174.3_Missense_Mutation_p.A894G|KIF24_ENST00000345050.2_Missense_Mutation_p.A894G|KIF24_ENST00000402558.2_Missense_Mutation_p.A1028G	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	1028					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TCCTGGGACAGCATGACCGTT	0.562													C	34256522	G	C	34256522	3	2	364	1	0	0	0	0	1	0	0	0	8350	971	34	4	1035	4	KIF24	9	34256522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410	34256522	106956909	7191	30693											
KIAA1161	57462	broad.mit.edu	37	chr9	34372131	34372131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctgcggcgcggccggCgggtggcttgtagggcgtgt	1	8	22	10	7	0	0	0	0	0	0	0	0	0	0	1	7	1	3	1	7	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372131C>T	ENST00000297625.7	-	2	934	c.709G>A	c.(709-711)Gcc>Acc	p.A237T		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	271					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		GCGCGGCCGGCGGGTGGCTTG	0.642													T	34372131	C	T	34372131	3	4	364	1	0	0	0	0	1	0	0	0	8269	768	27	1	1337	1	KIAA1161	9	34372131	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115609	34372131	106841300	7192	30694											
KIAA1161	57462	broad.mit.edu	37	chr9	34372162	34372162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggcgtgtcgtggtagcgCgcctgaagccgcagcgagcg	6	6	18	11	7	0	1	0	1	0	0	1	2	0	1	2	2	4	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34372162C>T	ENST00000297625.7	-	2	903	c.678G>A	c.(676-678)gcG>gcA	p.A226A		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	260					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		CGTGGTAGCGCGCCTGAAGCC	0.667													T	34372162	C	T	34372162	2	4	364	1	0	0	0	0	0	0	0	1	8269	755	27	1		1	KIAA1161	9	34372162	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31	34372162	106841269	7193	30695											
DNAI1	27019	broad.mit.edu	37	chr9	34514424	34514424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccagccaattcctcgaCacctatgacgcccacaacat	12	8	4	17	2	0	1	0	1	0	0	3	2	2	1	5	0	3	0	5	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514424C>T	ENST00000242317.4	+	17	1773	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	534					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		AATTCCTCGACACCTATGACG	0.557									Kartagener syndrome				T	34514424	C	T	34514424	2	4	364	1	0	0	0	0	0	0	0	1	4648	477	17	2		2	DNAI1	9	34514424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142262	34514424	106699007	7194	30696											
DNAI1	27019	broad.mit.edu	37	chr9	34514513	34514513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcagctccgactggaCagtgaagatctgggaccaca	10	7	12	12	1	1	2	0	1	1	1	3	5	3	4	3	2	2	2	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514513C>T	ENST00000242317.4	+	17	1862	c.1691C>T	c.(1690-1692)aCa>aTa	p.T564I		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	564					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		TCCGACTGGACAGTGAAGATC	0.587									Kartagener syndrome				T	34514513	C	T	34514513	3	4	364	1	0	0	0	0	1	0	0	0	4648	478	17	2	1757	2	DNAI1	9	34514513	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89	34514513	106698918	7195	30697											
DNAI1	27019	broad.mit.edu	37	chr9	34514703	34514703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgggcgccatactcttCtactgtgttcgcagcagtca	6	11	11	13	2	3	0	1	0	2	0	4	0	3	0	2	2	3	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34514703C>A	ENST00000242317.4	+	18	1955	c.1784C>A	c.(1783-1785)tCt>tAt	p.S595Y		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	595					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CCATACTCTTCTACTGTGTTC	0.567									Kartagener syndrome				A	34514703	C	A	34514703	3	1	364	1	0	0	0	0	1	0	0	0	4648	913	32	4	1854	4	DNAI1	9	34514703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190	34514703	106698728	7196	30698											
DNAI1	27019	broad.mit.edu	37	chr9	34517367	34517367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaacaggctcacccacGtgcagttcaatctcatccac	14	7	6	14	1	3	1	3	0	1	1	5	1	4	1	2	1	2	3	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34517367G>A	ENST00000242317.4	+	19	2074	c.1903G>A	c.(1903-1905)Gtg>Atg	p.V635M		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	635					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		GCTCACCCACGTGCAGTTCAA	0.532									Kartagener syndrome				A	34517367	G	A	34517367	3	1	364	1	0	0	0	0	1	0	0	0	4648	1145	40	1	1977	1	DNAI1	9	34517367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2664	34517367	106696064	7197	30699											
CNTFR	1271	broad.mit.edu	37	chr9	34564615	34564615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcccacatgcagcaggaCttggtggcgcaggtgccagg	9	5	15	12	1	0	0	0	0	0	0	0	1	0	1	2	5	4	3	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34564615C>T	ENST00000378980.3	-	4	594	c.301G>A	c.(301-303)Gtc>Atc	p.V101I	CNTFR_ENST00000351266.4_Missense_Mutation_p.V101I	NM_001207011.1|NM_147164.2	NP_001193940.1|NP_671693.1	P26992	CNTFR_HUMAN	ciliary neurotrophic factor receptor	101	Ig-like C2-type.				nervous system development	anchored to membrane|extrinsic to membrane|plasma membrane	ciliary neurotrophic factor receptor activity|receptor binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(4)|skin(1)	15	all_epithelial(49;0.0899)		STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.00494)		TGCAGCAGGACTTGGTGGCGC	0.627													T	34564615	C	T	34564615	3	4	364	1	0	0	0	0	1	0	0	0	3669	565	20	2	845	2	CNTFR	9	34564615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47248	34564615	106648816	7198	30700											
DCTN3	11258	broad.mit.edu	37	chr9	34617963	34617963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggtacttgatcagatCttcaactagaaaagtagcaa	16	10	7	8	0	3	3	2	1	1	2	4	3	4	3	1	1	3	3	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34617963C>A	ENST00000447983.2	-	3	240	c.187G>T	c.(187-189)Gat>Tat	p.D63Y	DCTN3_ENST00000341694.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000477738.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000378913.2_Missense_Mutation_p.D63Y|DCTN3_ENST00000378916.4_Missense_Mutation_p.D63Y|DCTN3_ENST00000259632.7_Missense_Mutation_p.D63Y			O75935	DCTN3_HUMAN	dynactin 3 (p22)	63					cytokinesis|G2/M transition of mitotic cell cycle|mitosis	centrosome|cleavage furrow|condensed chromosome kinetochore|cytosol|dynactin complex|midbody|perinuclear region of cytoplasm|spindle	protein binding|structural molecule activity			large_intestine(1)|skin(1)	2	all_epithelial(49;0.0863)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0388)		TTGATCAGATCTTCAACTAGA	0.463													A	34617963	C	A	34617963	3	1	364	1	0	0	0	0	1	0	0	0	4342	913	32	4	490	4	DCTN3	9	34617963	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53348	34617963	106595468	7199	30701											
ARID3C	138715	broad.mit.edu	37	chr9	34622473	34622473	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatttctcccgtgtaggtcCcagtgccaggcccacaggca	8	8	10	15	1	1	0	0	0	1	0	3	0	2	0	4	3	1	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34622473C>A	ENST00000378909.2	-	5	1011	c.919G>T	c.(919-921)Gga>Tga	p.G307*		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	307	Pro-rich.|REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		CGTGTAGGTCCCAGTGCCAGG	0.577													A	34622473	C	A	34622473	4	1	364	1	0	0	0	0	0	1	0	0	921	632	22	4	330	4	ARID3C	9	34622473	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4510	34622473	106590958	7200	30702											
ARID3C	138715	broad.mit.edu	37	chr9	34623516	34623516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggctggactgggtcgcCggaggggcggggccgggacc	4	3	22	12	4	0	0	0	0	0	0	1	3	0	3	4	9	0	1	4	9	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34623516C>T	ENST00000378909.2	-	4	863	c.771G>A	c.(769-771)ccG>ccA	p.P257P		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	257	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		ACTGGGTCGCCGGAGGGGCGG	0.706													T	34623516	C	T	34623516	2	4	364	1	0	0	0	0	0	0	0	1	921	639	23	1		1	ARID3C	9	34623516	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1043	34623516	106589915	7201	30703											
SIGMAR1	10280	broad.mit.edu	37	chr9	34636994	34636994	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagccttcttacccacCtgggtagaagacctcacttt	10	10	8	13	0	2	3	1	0	1	3	2	4	2	3	4	1	2	1	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34636994C>A	ENST00000378892.1	-	2	605	c.178G>T	c.(178-180)Ggg>Tgg	p.G60W	SIGMAR1_ENST00000277010.4_Splice_Site_p.G149W|SIGMAR1_ENST00000477726.1_Intron|SIGMAR1_ENST00000461426.1_Intron			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	149					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	TCTTACCCACCTGGGTAGAAG	0.592													A	34636994	C	A	34636994	5	1	364	1	0	0	0	0	0	0	1	0	14410	695	24	4	234	4	SIGMAR1	9	34636994	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13478	34636994	106576437	7202	30704											
IL11RA	3590	broad.mit.edu	37	chr9	34658656	34658656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccgtttgcagtaccgtccGgcgcagcatccagcctggtc	5	10	11	15	4	0	0	0	0	0	0	4	0	3	0	5	2	4	5	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34658656G>A	ENST00000555003.1	+	8	2142	c.786G>A	c.(784-786)ccG>ccA	p.P262P	IL11RA_ENST00000318041.9_Silent_p.P262P|IL11RA_ENST00000441545.2_Silent_p.P262P|IL11RA_ENST00000378817.4_Silent_p.P262P|IL11RA_ENST00000602473.1_Silent_p.P262P			Q14626	I11RA_HUMAN	interleukin 11 receptor, alpha	262	Fibronectin type-III 2.					integral to plasma membrane	cytokine receptor activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.174)	Oprelvekin(DB00038)	AGTACCGTCCGGCGCAGCATC	0.627													A	34658656	G	A	34658656	2	1	364	1	0	0	0	0	0	0	0	1	7681	1103	39	1		1	IL11RA	9	34658656	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21662	34658656	106554775	7203	30705											
CCL27	10850	broad.mit.edu	37	chr9	34662395	34662395	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgagtacagcaggcagtgCtgggtggcagtaggaatgct	9	8	17	7	0	0	1	0	1	0	0	0	2	0	2	0	4	4	8	0	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34662395C>A	ENST00000259631.4	-	2	147	c.89G>T	c.(88-90)aGc>aTc	p.S30I	RP11-195F19.30_ENST00000564224.1_RNA|CCL27_ENST00000557161.1_5'UTR	NM_006664.2	NP_006655.1	Q9Y4X3	CCL27_HUMAN	chemokine (C-C motif) ligand 27	30					cell-cell signaling|chemotaxis|immune response	extracellular space	chemokine activity			kidney(1)|large_intestine(3)|ovary(1)	5	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.173)		GCAGGCAGTGCTGGGTGGCAG	0.562													A	34662395	C	A	34662395	3	1	364	1	0	0	0	0	1	0	0	0	2927	797	28	4	257	4	CCL27	9	34662395	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3739	34662395	106551036	7204	30706											
KIAA1045	23349	broad.mit.edu	37	chr9	34977131	34977131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagcgagcccgagccGccttcctggctcggggcagt	5	5	17	14	5	0	0	0	0	0	0	2	3	1	1	4	4	4	2	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34977131G>A	ENST00000242315.3	+	6	983	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	KIAA1045_ENST00000476115.2_3'UTR|KIAA1045_ENST00000544237.1_Missense_Mutation_p.A301T	NM_015297.1	NP_056112.1	Q9UPV7	K1045_HUMAN	KIAA1045	301							calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(32;0.00575)			AGCCCGAGCCGCCTTCCTGGC	0.582													A	34977131	G	A	34977131	3	1	364	1	0	0	0	0	1	0	0	0	8265	1087	38	1	919	1	KIAA1045	9	34977131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314736	34977131	106236300	7205	30707											
DNAJB5	25822	broad.mit.edu	37	chr9	34996467	34996467	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgaggacccatttggCgctttcggccgttttggctt	6	13	13	9	3	0	2	0	1	0	1	1	4	0	3	2	4	0	3	2	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996467C>T	ENST00000541010.1	+	2	3429	c.417C>T	c.(415-417)ggC>ggT	p.G139G	DNAJB5_ENST00000312316.5_Silent_p.G139G|DNAJB5_ENST00000545841.1_Silent_p.G139G|DNAJB5_ENST00000453597.3_Silent_p.G253G|DNAJB5_ENST00000335998.3_Silent_p.G173G|DNAJB5_ENST00000454002.2_Silent_p.G211G			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	139					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			ACCCATTTGGCGCTTTCGGCC	0.592													T	34996467	C	T	34996467	2	4	364	1	0	0	0	0	0	0	0	1	4662	755	27	1		1	DNAJB5	9	34996467	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19336	34996467	106216964	7206	30708											
DNAJB5	25822	broad.mit.edu	37	chr9	34996478	34996478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatttggcgctttcggccGttttggcttcaatgggctga	4	14	12	11	3	1	1	1	1	0	0	2	1	1	1	2	4	0	4	2	4	1	5	rs35837382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:34996478G>A	ENST00000541010.1	+	2	3440	c.428G>A	c.(427-429)cGt>cAt	p.R143H	DNAJB5_ENST00000312316.5_Missense_Mutation_p.R143H|DNAJB5_ENST00000545841.1_Missense_Mutation_p.R143H|DNAJB5_ENST00000453597.3_Missense_Mutation_p.R257H|DNAJB5_ENST00000335998.3_Missense_Mutation_p.R177H|DNAJB5_ENST00000454002.2_Missense_Mutation_p.R215H			O75953	DNJB5_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 5	143					protein folding|response to unfolded protein		heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12			LUSC - Lung squamous cell carcinoma(32;0.00575)			GCTTTCGGCCGTTTTGGCTTC	0.602													A	34996478	G	A	34996478	3	1	364	1	0	0	0	0	1	0	0	0	4662	1145	40	1	654	1	DNAJB5	9	34996478	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	34996478	106216953	7207	30709											
C9orf131	138724	broad.mit.edu	37	chr9	35043629	35043629	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacaaaaagatgccccaaGcttttgagcctccgatgcca	13	7	8	13	1	0	2	0	1	0	1	1	4	1	2	5	0	4	1	5	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35043629G>T	ENST00000312292.5	+	2	1050	c.1003G>T	c.(1003-1005)Gct>Tct	p.A335S	C9orf131_ENST00000421362.2_Missense_Mutation_p.A287S|C9orf131_ENST00000354479.5_Missense_Mutation_p.A262S	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	335										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			GATGCCCCAAGCTTTTGAGCC	0.532													T	35043629	G	T	35043629	3	4	364	1	0	0	0	0	1	0	0	0	2483	971	34	4	1025	4	C9orf131	9	35043629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47151	35043629	106169802	7208	30710											
C9orf131	138724	broad.mit.edu	37	chr9	35044203	35044203	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaaccacccttatggAaccacacagaatcaatcctg	14	7	4	16	0	1	1	1	0	0	1	3	2	3	2	6	1	2	0	6	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35044203A>C	ENST00000312292.5	+	2	1624	c.1577A>C	c.(1576-1578)gAa>gCa	p.E526A	C9orf131_ENST00000421362.2_Missense_Mutation_p.E478A|C9orf131_ENST00000354479.5_Missense_Mutation_p.E453A	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	526										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			ACCCTTATGGAACCACACAGA	0.507													C	35044203	A	C	35044203	3	2	364	1	0	0	0	0	1	0	0	0	2483	246	9	5	1599	5	C9orf131	9	35044203	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	574	35044203	106169228	7209	30711											
C9orf131	138724	broad.mit.edu	37	chr9	35045619	35045619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcaacacaggggccagaGctctcaacacactgctcttc	10	8	8	15	0	3	1	2	0	3	1	6	1	3	1	1	2	4	2	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35045619G>T	ENST00000312292.5	+	2	3040	c.2993G>T	c.(2992-2994)aGc>aTc	p.S998I	C9orf131_ENST00000421362.2_Missense_Mutation_p.S950I|C9orf131_ENST00000354479.5_Missense_Mutation_p.S925I	NM_001040410.1|NM_203299.2	NP_001035500.1|NP_976044.2	Q5VYM1	CI131_HUMAN	chromosome 9 open reading frame 131	998										cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(23)|prostate(2)|skin(2)|stomach(1)	39	all_epithelial(49;0.22)		LUSC - Lung squamous cell carcinoma(32;0.00117)|Lung(28;0.00309)			AGGGGCCAGAGCTCTCAACAC	0.582													T	35045619	G	T	35045619	3	4	364	1	0	0	0	0	1	0	0	0	2483	971	34	4	3015	4	C9orf131	9	35045619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1416	35045619	106167812	7210	30712											
VCP	7415	broad.mit.edu	37	chr9	35066787	35066787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacatggatacgtttgccGtacttcacatcagggcatgg	10	10	11	10	2	2	0	2	0	0	0	2	1	2	1	1	3	4	4	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35066787G>A	ENST00000358901.6	-	4	1225	c.330C>T	c.(328-330)taC>taT	p.Y110Y		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	110					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TACGTTTGCCGTACTTCACAT	0.512													A	35066787	G	A	35066787	2	1	364	1	0	0	0	0	0	0	0	1	17242	1140	40	1		1	VCP	9	35066787	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21168	35066787	106146644	7211	30713											
VCP	7415	broad.mit.edu	37	chr9	35068295	35068295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgatggcttcatcaaCaattaaccgattgggacggt	11	12	9	9	2	3	1	3	1	0	0	3	3	3	2	1	3	2	1	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35068295C>G	ENST00000358901.6	-	2	977	c.82G>C	c.(82-84)Gtt>Ctt	p.V28L		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	28					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTTCATCAACAATTAACCGA	0.453													G	35068295	C	G	35068295	3	3	364	1	0	0	0	0	1	0	0	0	17242	478	17	4	2402	4	VCP	9	35068295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1508	35068295	106145136	7212	30714											
FANCG	2189	broad.mit.edu	37	chr9	35076575	35076575	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggaactgcatgggacattCaaggcctaaaagagaaagaa	17	7	11	6	0	1	2	1	0	0	2	1	5	1	4	1	3	2	1	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35076575C>T	ENST00000378643.3	-	8	1421	c.930G>A	c.(928-930)ttG>ttA	p.L310L		NM_004629.1	NP_004620.1	O15287	FANCG_HUMAN	Fanconi anemia, complementation group G	310					cell cycle checkpoint|DNA repair|mitochondrion organization	mitochondrion|nucleoplasm	damaged DNA binding|protein binding	p.L310F(1)		NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|stomach(1)	28			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ATGGGACATTCAAGGCCTAAA	0.443			"Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks					T	35076575	C	T	35076575	2	4	364	1	0	0	0	0	0	0	0	1	5717	825	29	2		2	FANCG	9	35076575	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8280	35076575	106136856	7213	30715											
PIGO	84720	broad.mit.edu	37	chr9	35090505	35090505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtgttggctcccactaGcaaagcaggcagccaagtac	13	6	11	11	0	0	0	0	0	0	0	1	0	1	0	2	3	4	6	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35090505G>T	ENST00000378617.3	-	8	3206	c.2812C>A	c.(2812-2814)Cta>Ata	p.L938I	PIGO_ENST00000361778.2_Missense_Mutation_p.L521I|PIGO_ENST00000341666.3_Missense_Mutation_p.L938I|PIGO_ENST00000298004.5_Missense_Mutation_p.L521I	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	938				PFTVPWQAVSAWALMATQTFYSTGHQPVFPAIHWHAAFVGF PEGHGSCTWLPALLVGANTFASHLLFAVGCPLLLLWPFLCE SQGL -> KYLSSDSLKDNSDVSSAPLVFKEVLLLMFLSLT EGPMPHTTRKVFLVSSLLPAIAKQIDPSCWFPGFMERRDKE SSKTPCGNAASS (in Ref. 8).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GCTCCCACTAGCAAAGCAGGC	0.557													T	35090505	G	T	35090505	3	4	364	1	0	0	0	0	1	0	0	0	11971	962	34	4	473	4	PIGO	9	35090505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13930	35090505	106122926	7214	30716											
PIGO	84720	broad.mit.edu	37	chr9	35091816	35091816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttgagattaccatagcGgcgaagccacaagcgcacgg	11	6	12	12	4	1	1	0	1	1	1	1	3	1	1	2	2	4	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35091816G>A	ENST00000378617.3	-	7	2462	c.2068C>T	c.(2068-2070)Cgc>Tgc	p.R690C	PIGO_ENST00000361778.2_Intron|PIGO_ENST00000341666.3_Missense_Mutation_p.R690C|PIGO_ENST00000298004.5_Intron	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	690					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TTACCATAGCGGCGAAGCCAC	0.602													A	35091816	G	A	35091816	3	1	364	1	0	0	0	0	1	0	0	0	11971	1116	39	1	1221	1	PIGO	9	35091816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1311	35091816	106121615	7215	30717											
PIGO	84720	broad.mit.edu	37	chr9	35093169	35093169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagcagcagggccagcGtgggcacaaggctaacttga	10	4	15	12	1	0	1	0	1	0	0	0	1	0	1	2	4	4	4	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35093169G>A	ENST00000378617.3	-	6	1371	c.977C>T	c.(976-978)aCg>aTg	p.T326M	PIGO_ENST00000361778.2_Missense_Mutation_p.T326M|PIGO_ENST00000341666.3_Missense_Mutation_p.T326M|PIGO_ENST00000298004.5_Missense_Mutation_p.T326M	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	326					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CAGGGCCAGCGTGGGCACAAG	0.542													A	35093169	G	A	35093169	3	1	364	1	0	0	0	0	1	0	0	0	11971	1145	40	1	2316	1	PIGO	9	35093169	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1353	35093169	106120262	7216	30718											
STOML2	30968	broad.mit.edu	37	chr9	35100655	35100655	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggatagtgttggagtcCttggccagtttggagaacgc	9	11	15	6	1	0	1	0	0	0	1	1	4	1	3	2	4	1	3	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35100655C>A	ENST00000356493.5	-	9	935	c.873G>T	c.(871-873)aaG>aaT	p.K291N	STOML2_ENST00000452248.2_Missense_Mutation_p.K246N	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	291						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			TGTTGGAGTCCTTGGCCAGTT	0.547													A	35100655	C	A	35100655	3	1	364	1	0	0	0	0	1	0	0	0	15410	680	24	4	205	4	STOML2	9	35100655	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7486	35100655	106112776	7217	30719											
STOML2	30968	broad.mit.edu	37	chr9	35101490	35101490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatctcataacggaggcagCggataccccagcagtcagca	12	6	11	12	2	2	1	2	1	1	0	3	3	2	3	2	3	5	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35101490C>T	ENST00000356493.5	-	6	574	c.512G>A	c.(511-513)cGc>cAc	p.R171H	STOML2_ENST00000452248.2_Intron	NM_013442.1	NP_038470.1	Q9UJZ1	STML2_HUMAN	stomatin (EPB72)-like 2	171						cytoskeleton	receptor binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	16			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			ACGGAGGCAGCGGATACCCCA	0.567													T	35101490	C	T	35101490	3	4	364	1	0	0	0	0	1	0	0	0	15410	768	27	1	578	1	STOML2	9	35101490	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	835	35101490	106111941	7218	30720											
UNC13B	10497	broad.mit.edu	37	chr9	35375166	35375166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggaatcacttctgcaatgGctacacgcacttctcttaag	11	11	7	12	1	3	0	1	0	2	0	4	1	3	1	0	2	2	3	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35375166G>T	ENST00000378495.3	+	13	1558	c.1336G>T	c.(1336-1338)Gct>Tct	p.A446S	UNC13B_ENST00000378496.4_Missense_Mutation_p.A446S|UNC13B_ENST00000396787.1_Missense_Mutation_p.A458S	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	446					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TTCTGCAATGGCTACACGCAC	0.537													T	35375166	G	T	35375166	3	4	364	1	0	0	0	0	1	0	0	0	17087	1203	42	4	1386	4	UNC13B	9	35375166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273676	35375166	105838265	7219	30721											
UNC13B	10497	broad.mit.edu	37	chr9	35381199	35381199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccataccacgtgcagtataCatgtctccatgaggtgagcc	10	9	9	13	1	1	2	0	2	1	0	2	2	1	2	4	1	4	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35381199C>T	ENST00000378495.3	+	18	2453	c.2231C>T	c.(2230-2232)aCa>aTa	p.T744I	UNC13B_ENST00000378496.4_Missense_Mutation_p.T744I|UNC13B_ENST00000396787.1_Missense_Mutation_p.T756I	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	744					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GTGCAGTATACATGTCTCCAT	0.527													T	35381199	C	T	35381199	3	4	364	1	0	0	0	0	1	0	0	0	17087	478	17	2	2301	2	UNC13B	9	35381199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6033	35381199	105832232	7220	30722											
UNC13B	10497	broad.mit.edu	37	chr9	35386236	35386236	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgtttgaactccacAtatgaatatatcttcaacaa	15	12	5	9	0	2	2	1	2	1	0	3	2	3	2	2	1	2	1	2	1	8	5	rs150519290		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35386236A>G	ENST00000378495.3	+	23	3015	c.2793A>G	c.(2791-2793)acA>acG	p.T931T	UNC13B_ENST00000378496.4_Silent_p.T931T|UNC13B_ENST00000396787.1_Silent_p.T943T	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	931					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAACTCCACATATGAATATA	0.483													G	35386236	A	G	35386236	2	3	364	1	0	0	0	0	0	0	0	1	17087	204	8	3		3	UNC13B	9	35386236	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5037	35386236	105827195	7221	30723											
UNC13B	10497	broad.mit.edu	37	chr9	35396556	35396556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccacaatgaatacgtgCgggatctgcctgtcctccag	8	9	11	13	2	1	1	0	1	1	0	4	2	4	2	4	2	3	1	4	2	3	1	rs151027172	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396556C>T	ENST00000378495.3	+	26	3367	c.3145C>T	c.(3145-3147)Cgg>Tgg	p.R1049W	UNC13B_ENST00000378496.4_Missense_Mutation_p.R1049W|UNC13B_ENST00000396787.1_Missense_Mutation_p.R1061W|UNC13B_ENST00000481299.1_3'UTR	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1049	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			TGAATACGTGCGGGATCTGCC	0.552													T	35396556	C	T	35396556	3	4	364	1	0	0	0	0	1	0	0	0	17087	759	27	1	3247	1	UNC13B	9	35396556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10320	35396556	105816875	7222	30724											
UNC13B	10497	broad.mit.edu	37	chr9	35396885	35396885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggatgagaatgaggatgTatccctggaattcctgcgtg	9	11	14	7	1	0	2	0	2	0	1	2	6	2	5	2	3	1	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35396885T>C	ENST00000378495.3	+	27	3458	c.3236T>C	c.(3235-3237)gTa>gCa	p.V1079A	UNC13B_ENST00000378496.4_Missense_Mutation_p.V1079A|UNC13B_ENST00000396787.1_Missense_Mutation_p.V1091A|UNC13B_ENST00000481299.1_3'UTR	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1079	MHD1.				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			AATGAGGATGTATCCCTGGAA	0.557													C	35396885	T	C	35396885	3	2	364	1	0	0	0	0	1	0	0	0	17087	1638	57	3	3342	3	UNC13B	9	35396885	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	329	35396885	105816546	7223	30725											
UNC13B	10497	broad.mit.edu	37	chr9	35403967	35403967	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctcagaggagcaatgaCgaggtggcccgagaatttgt	11	10	13	7	2	1	3	1	1	1	2	2	6	1	4	1	3	1	1	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35403967C>T	ENST00000378495.3	+	39	4935	c.4713C>T	c.(4711-4713)gaC>gaT	p.D1571D	UNC13B_ENST00000378496.4_Silent_p.D1590D|UNC13B_ENST00000396787.1_Silent_p.D1602D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	1571					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGCAATGACGAGGTGGCCC	0.552													T	35403967	C	T	35403967	2	4	364	1	0	0	0	0	0	0	0	1	17087	535	19	1		1	UNC13B	9	35403967	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7082	35403967	105809464	7224	30726											
RUSC2	9853	broad.mit.edu	37	chr9	35560530	35560530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctcgtggtagcagcaacaGcagcagcgagaaaaagaaag	16	3	12	10	2	0	2	0	0	0	2	1	3	0	2	1	1	6	5	1	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35560530G>A	ENST00000455600.1	+	10	4462	c.3893G>A	c.(3892-3894)aGc>aAc	p.S1298N		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1298						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGCAGCAACAGCAGCAGCGAG	0.642													A	35560530	G	A	35560530	3	1	364	1	0	0	0	0	1	0	0	0	13842	971	34	2	3927	2	RUSC2	9	35560530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156563	35560530	105652901	7225	30727											
CCDC107	203260	broad.mit.edu	37	chr9	35660849	35660849	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggatatggaggcttcaGaaccaggtgaaggctcggga	13	6	15	7	1	1	2	1	1	0	1	2	5	1	5	1	6	1	2	1	6	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35660849G>T	ENST00000426546.2	+	5	583	c.517G>T	c.(517-519)Gaa>Taa	p.E173*	CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Nonsense_Mutation_p.E173*	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	173						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGCTTCAGAACCAGGTGA	0.557													T	35660849	G	T	35660849	4	4	364	1	0	0	0	0	0	1	0	0	2768	943	33	4	535	4	CCDC107	9	35660849	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100319	35660849	105552582	7226	30728											
CCDC107	203260	broad.mit.edu	37	chr9	35661071	35661071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcctgggaggtggggCggggactacggagaaggtgc	7	7	19	8	2	0	1	0	0	0	1	1	4	1	3	1	8	3	0	1	8	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35661071C>T	ENST00000426546.2	+	5	805	c.739C>T	c.(739-741)Cgg>Tgg	p.R247W	CCDC107_ENST00000421582.2_3'UTR|CCDC107_ENST00000327351.2_3'UTR|ARHGEF39_ENST00000343259.3_3'UTR|CCDC107_ENST00000378406.1_3'UTR|ARHGEF39_ENST00000378387.3_3'UTR|ARHGEF39_ENST00000378395.2_3'UTR|CCDC107_ENST00000378407.3_3'UTR|CCDC107_ENST00000378409.3_Missense_Mutation_p.R220W	NM_001195200.1|NM_001195201.1|NM_001195217.1|NM_174923.2	NP_001182129.1|NP_001182130.1|NP_001182146.1|NP_777583.2	Q8WV48	CC107_HUMAN	coiled-coil domain containing 107	247						integral to membrane				endometrium(1)|lung(3)|skin(1)	5	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GGAGGTGGGGCGGGGACTACG	0.592													T	35661071	C	T	35661071	3	4	364	1	0	0	0	0	1	0	0	0	2768	759	27	1	757	1	CCDC107	9	35661071	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222	35661071	105552360	7227	30729											
CA9	768	broad.mit.edu	37	chr9	35675906	35675906	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgccgctcccagaactgcgCctgcgcaacaatggccacag	9	4	10	18	4	0	1	0	0	0	1	1	1	1	1	5	1	4	2	5	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35675906C>T	ENST00000378357.4	+	3	686	c.582C>T	c.(580-582)cgC>cgT	p.R194R		NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	194	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGAACTGCGCCTGCGCAACA	0.726													T	35675906	C	T	35675906	2	4	364	1	0	0	0	0	0	0	0	1	2550	726	26	2		2	CA9	9	35675906	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14835	35675906	105537525	7228	30730											
CREB3	10488	broad.mit.edu	37	chr9	35736702	35736702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtagcccctctgtcattttGcaggacagatactcaggcta	9	11	10	11	0	3	1	2	0	1	1	3	2	3	2	2	3	3	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35736702G>A	ENST00000353704.2	+	9	1533	c.1095G>A	c.(1093-1095)ttG>ttA	p.L365L	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	389	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTGTCATTTTGCAGGACAGAT	0.562											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	35736702	G	A	35736702	2	1	364	1	0	0	0	0	0	0	0	1	3886	1310	46	2		2	CREB3	9	35736702	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60796	35736702	105476729	7229	30731											
GBA2	57704	broad.mit.edu	37	chr9	35738597	35738597	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgagtccatcatggtcCttgtcaaacttcatttcaga	11	14	6	10	0	5	2	5	1	0	1	7	2	7	2	2	1	1	0	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35738597C>A	ENST00000378088.1	-	0	35				GBA2_ENST00000467252.1_5'UTR|GBA2_ENST00000545786.1_Missense_Mutation_p.K666N|GBA2_ENST00000378094.4_Missense_Mutation_p.K660N|GBA2_ENST00000378103.3_Missense_Mutation_p.K660N			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CATCATGGTCCTTGTCAAACT	0.517													A	35738597	C	A	35738597	1	1	364	1	0	0	0	0	0	0	0	0	6321	680	24	4		4	GBA2	9	35738597	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1895	35738597	105474834	7230	30732											
RGP1	9827	broad.mit.edu	37	chr9	35750902	35750902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcagtcagtcaagtacGtctacaaactgaccattggc	11	9	11	10	1	4	1	3	1	1	0	4	1	4	1	1	3	3	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35750902G>A	ENST00000378078.4	+	5	544	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	RGP1_ENST00000456972.2_Missense_Mutation_p.V175I	NM_001080496.2	NP_001073965.2	Q92546	RGP1_HUMAN	RGP1 retrograde golgi transport homolog (S. cerevisiae)	135										cervix(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGTCAAGTACGTCTACAAACT	0.542													A	35750902	G	A	35750902	3	1	364	1	0	0	0	0	1	0	0	0	13372	1145	40	1	545	1	RGP1	9	35750902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12305	35750902	105462529	7231	30733											
NPR2	4882	broad.mit.edu	37	chr9	35792411	35792411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgctttatccccatggcGctgccatcacttctgctgtt	4	15	8	14	1	2	0	1	0	1	0	3	0	3	0	3	1	4	5	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35792411G>A	ENST00000342694.2	+	1	261	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	2					intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCCCCATGGCGCTGCCATCAC	0.687													A	35792411	G	A	35792411	2	1	364	1	0	0	0	0	0	0	0	1	10671	1074	38	1		1	NPR2	9	35792411	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41509	35792411	105421020	7232	30734											
NPR2	4882	broad.mit.edu	37	chr9	35805938	35805938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgcaggagatagcacttcGcagtggtcctttctacttgg	7	12	11	11	1	1	1	0	0	1	1	3	2	2	1	2	3	3	3	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35805938G>A	ENST00000342694.2	+	14	2414	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	720	Protein kinase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	ATAGCACTTCGCAGTGGTCCT	0.547													A	35805938	G	A	35805938	3	1	364	1	0	0	0	0	1	0	0	0	10671	1087	38	1	2213	1	NPR2	9	35805938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13527	35805938	105407493	7233	30735											
NPR2	4882	broad.mit.edu	37	chr9	35807348	35807348	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgacacttcttaatgacCtgtatacctgctttgatgcc	9	15	7	10	0	1	3	0	3	1	0	1	3	1	3	3	0	3	2	3	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:35807348C>A	ENST00000342694.2	+	18	2920	c.2665C>A	c.(2665-2667)Ctg>Atg	p.L889M		NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)	889	Guanylate cyclase.				intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TCTTAATGACCTGTATACCTG	0.428													A	35807348	C	A	35807348	3	1	364	1	0	0	0	0	1	0	0	0	10671	680	24	4	2735	4	NPR2	9	35807348	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1410	35807348	105406083	7234	30736											
RECK	8434	broad.mit.edu	37	chr9	36109991	36109991	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtattgactgcaatgtctgTtcttgttttgctggcaattt	7	19	9	6	0	2	1	0	1	2	0	2	1	2	1	0	1	2	6	0	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36109991T>C	ENST00000377966.3	+	15	2369	c.1803T>C	c.(1801-1803)tgT>tgC	p.C601C		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	601						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			GCAATGTCTGTTCTTGTTTTG	0.438													C	36109991	T	C	36109991	2	2	364	1	0	0	0	0	0	0	0	1	13288	1731	60	3		3	RECK	9	36109991	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	302643	36109991	105103440	7235	30737											
RECK	8434	broad.mit.edu	37	chr9	36121545	36121545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaggtaacaaataaaaagCcaataacagttctggaaata	20	8	6	7	0	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36121545C>T	ENST00000377966.3	+	20	3120	c.2554C>T	c.(2554-2556)Cca>Tca	p.P852S		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	852						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			AAATAAAAAGCCAATAACAGT	0.403													T	36121545	C	T	36121545	3	4	364	1	0	0	0	0	1	0	0	0	13288	739	26	2	2632	2	RECK	9	36121545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11554	36121545	105091886	7236	30738											
CLTA	1211	broad.mit.edu	37	chr9	36199092	36199092	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaacgcttggaagccctTggtaaggaatcccttctgtg	9	11	12	9	1	1	0	0	0	1	0	2	3	2	3	2	4	2	2	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36199092T>C	ENST00000433436.2	+	3	573	c.372T>C	c.(370-372)ctT>ctC	p.L124L	CLTA_ENST00000345519.5_Splice_Site_p.L124L|CLTA_ENST00000540080.1_Intron|CLTA_ENST00000538225.1_Splice_Site_p.L124L|CLTA_ENST00000470744.1_Splice_Site_p.L124L|CLTA_ENST00000466396.1_Intron|CLTA_ENST00000242285.6_Splice_Site_p.L124L|CLTA_ENST00000396603.2_Splice_Site_p.L124L	NM_007096.3	NP_009027.1	P09496	CLCA_HUMAN	clathrin, light chain A	124	Involved in binding clathrin heavy chain.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol	structural molecule activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(1)	6			STAD - Stomach adenocarcinoma(86;0.228)			TGGAAGCCCTTGGTAAGGAAT	0.423													C	36199092	T	C	36199092	5	2	364	1	0	0	0	0	0	0	1	0	3595	1826	63	3	382	3	CLTA	9	36199092	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77547	36199092	105014339	7237	30739											
RNF38	152006	broad.mit.edu	37	chr9	36357831	36357831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaaccacagagcatcctgGgacctgctgtgtactacaag	13	7	10	11	0	0	1	0	0	0	1	1	3	1	2	3	1	5	3	3	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36357831G>T	ENST00000357058.3	-	5	1036	c.430C>A	c.(430-432)Cca>Aca	p.P144T	RNF38_ENST00000259605.6_Missense_Mutation_p.P227T|RNF38_ENST00000350199.4_Missense_Mutation_p.P144T|RNF38_ENST00000491349.1_5'UTR|RNF38_ENST00000377885.2_Missense_Mutation_p.P144T|RNF38_ENST00000377877.4_Missense_Mutation_p.P151T|RNF38_ENST00000353739.4_Missense_Mutation_p.P177T	NM_194328.2	NP_919309.1	Q9H0F5	RNF38_HUMAN	ring finger protein 38	227							zinc ion binding			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(1)|lung(3)|stomach(1)	11			STAD - Stomach adenocarcinoma(86;0.228)			GAGCATCCTGGGACCTGCTGT	0.483													T	36357831	G	T	36357831	3	4	364	1	0	0	0	0	1	0	0	0	13581	1232	43	4	900	4	RNF38	9	36357831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158739	36357831	104855600	7238	30740											
PAX5	5079	broad.mit.edu	37	chr9	36882013	36882013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcaccaggcaccatccCtgtcagcgtcggtgctgagt	9	8	10	14	2	2	1	2	1	0	0	4	1	3	1	3	2	3	2	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:36882013C>A	ENST00000358127.4	-	8	1074	c.1000G>T	c.(1000-1002)Ggg>Tgg	p.G334W	PAX5_ENST00000523145.1_Intron|PAX5_ENST00000520154.1_Intron|PAX5_ENST00000377847.2_Intron|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Intron|PAX5_ENST00000414447.1_Missense_Mutation_p.G291W|PAX5_ENST00000377853.2_Missense_Mutation_p.G334W|PAX5_ENST00000377852.2_Intron|PAX5_ENST00000522003.1_Missense_Mutation_p.G226W|PAX5_ENST00000520281.1_Missense_Mutation_p.G291W	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	334					cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(22)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		GGCACCATCCCTGTCAGCGTC	0.667			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								A	36882013	C	A	36882013	3	1	364	1	0	0	0	0	1	0	0	0	11558	681	24	4	187	4	PAX5	9	36882013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524182	36882013	104331418	7239	30741											
PAX5	5079	broad.mit.edu	37	chr9	37014994	37014994	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcacgagcccctcacCtgttgatggaactgacgcta	10	7	10	14	2	1	2	1	2	0	0	1	4	1	3	3	2	2	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37014994C>A	ENST00000358127.4	-	3	484	c.410G>T	c.(409-411)aGg>aTg	p.R137M	PAX5_ENST00000523145.1_Splice_Site_p.R29M|PAX5_ENST00000520154.1_Splice_Site_p.R137M|PAX5_ENST00000377847.2_Splice_Site_p.R137M|PAX5_ENST00000446742.1_Intron|PAX5_ENST00000523241.1_Splice_Site_p.R137M|PAX5_ENST00000414447.1_Splice_Site_p.R137M|PAX5_ENST00000377853.2_Splice_Site_p.R137M|PAX5_ENST00000377852.2_Splice_Site_p.R137M|PAX5_ENST00000522003.1_Splice_Site_p.R29M|PAX5_ENST00000520281.1_Splice_Site_p.R137M	NM_001280554.1|NM_001280556.1|NM_016734.1	NP_001267483.1|NP_001267485.1|NP_057953.1	Q02548	PAX5_HUMAN	paired box 5	137	Paired.				cell differentiation|humoral immune response|nervous system development|organ morphogenesis|spermatogenesis|transcription from RNA polymerase II promoter	nucleus	DNA binding	p.?(42)	PAX5/JAK2(18)	NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(151)|kidney(1)|lung(10)|prostate(1)|skin(1)	171		all_cancers(2;3.46e-10)|Acute lymphoblastic leukemia(2;7.09e-56)|all_hematologic(2;6.65e-44)		GBM - Glioblastoma multiforme(29;0.0108)		AGCCCCTCACCTGTTGATGGA	0.582			"T, Mis, D, F, S"	"IGH@, ETV6, PML, FOXP1, ZNF521, ELN"	"NHL, ALL, B-ALL"								A	37014994	C	A	37014994	5	1	364	1	0	0	0	0	0	0	1	0	11558	695	24	4	797	4	PAX5	9	37014994	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132981	37014994	104198437	7240	30742											
ZCCHC7	84186	broad.mit.edu	37	chr9	37126625	37126625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttgtctgatgaagacaGtatttatagatgtaaaggaa	15	13	9	4	0	1	4	0	2	1	2	1	5	1	5	0	1	0	2	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37126625G>T	ENST00000336755.5	+	2	402	c.296G>T	c.(295-297)aGt>aTt	p.S99I	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_Intron|ZCCHC7_ENST00000322831.6_Missense_Mutation_p.S98I	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	99							nucleic acid binding|zinc ion binding	p.S99T(1)		central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		GATGAAGACAGTATTTATAGA	0.383													T	37126625	G	T	37126625	3	4	364	1	0	0	0	0	1	0	0	0	17694	1029	36	4	298	4	ZCCHC7	9	37126625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111631	37126625	104086806	7241	30743											
ZCCHC7	84186	broad.mit.edu	37	chr9	37304256	37304256	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccaacaaaaacattatCtgtagaaattgtgacaaacg	18	9	6	8	1	2	2	1	1	1	1	2	2	2	2	1	0	4	1	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37304256C>A	ENST00000336755.5	+	4	832	c.726C>A	c.(724-726)atC>atA	p.I242I	ZCCHC7_ENST00000461038.1_3'UTR|ZCCHC7_ENST00000534928.1_5'UTR	NM_032226.2	NP_115602.2	Q8N3Z6	ZCHC7_HUMAN	zinc finger, CCHC domain containing 7	242							nucleic acid binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	30				GBM - Glioblastoma multiforme(29;0.0137)		AAAACATTATCTGTAGAAATT	0.373													A	37304256	C	A	37304256	2	1	364	1	0	0	0	0	0	0	0	1	17694	903	32	4		4	ZCCHC7	9	37304256	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177631	37304256	103909175	7242	30744											
ZBTB5	9925	broad.mit.edu	37	chr9	37442057	37442057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggggctggctgctcctcGccattctggctggaattgag	5	11	15	10	1	1	1	0	1	1	0	3	2	2	2	2	5	1	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37442057G>A	ENST00000307750.4	-	2	680	c.492C>T	c.(490-492)ggC>ggT	p.G164G		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		GCTGCTCCTCGCCATTCTGGC	0.602													A	37442057	G	A	37442057	2	1	364	1	0	0	0	0	0	0	0	1	17652	1074	38	1		1	ZBTB5	9	37442057	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137801	37442057	103771374	7243	30745											
FBXO10	26267	broad.mit.edu	37	chr9	37512652	37512652	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccattgtgggctgccgaGggacgtctgagagaattttc	7	11	14	9	2	1	2	0	1	1	1	2	5	1	3	2	2	2	1	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37512652G>T	ENST00000432825.2	-	11	2811	c.2763C>A	c.(2761-2763)ccC>ccA	p.P921P	FBXO10_ENST00000541829.1_Silent_p.P446P|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	921						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GGGCTGCCGAGGGACGTCTGA	0.577													T	37512652	G	T	37512652	2	4	364	1	0	0	0	0	0	0	0	1	5775	987	35	4		4	FBXO10	9	37512652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70595	37512652	103700779	7244	30746											
FBXO10	26267	broad.mit.edu	37	chr9	37518375	37518375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcctctgtccccattcGcgtggatcacattggtgatg	7	13	10	11	2	2	1	1	1	1	0	4	2	3	2	3	2	1	0	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37518375G>A	ENST00000432825.2	-	9	2309	c.2261C>T	c.(2260-2262)gCg>gTg	p.A754V	FBXO10_ENST00000541829.1_Missense_Mutation_p.A279V|RP11-613M10.8_ENST00000544475.1_5'UTR	NM_012166.2	NP_036298.2	Q9UK96	FBX10_HUMAN	F-box protein 10	754						ubiquitin ligase complex	ubiquitin-protein ligase activity			breast(1)|endometrium(5)|large_intestine(11)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	34				GBM - Glioblastoma multiforme(29;0.0107)		GTCCCCATTCGCGTGGATCAC	0.587													A	37518375	G	A	37518375	3	1	364	1	0	0	0	0	1	0	0	0	5775	1087	38	1	621	1	FBXO10	9	37518375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5723	37518375	103695056	7245	30747											
FRMPD1	22844	broad.mit.edu	37	chr9	37740152	37740152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaacctctctctgacaggCgcctggtgaaactggcaccc	8	8	10	15	2	2	2	0	2	2	0	4	3	2	2	3	3	2	1	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37740152C>T	ENST00000539465.1	+	15	2220	c.1627C>T	c.(1627-1629)Cgc>Tgc	p.R543C	RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000377765.3_Missense_Mutation_p.R543C|FRMPD1_ENST00000541302.1_Missense_Mutation_p.R412C|FRMPD1_ENST00000536622.1_Missense_Mutation_p.R365C			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	543						cytoskeleton|cytosol|plasma membrane				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		CTCTGACAGGCGCCTGGTGAA	0.597													T	37740152	C	T	37740152	3	4	364	1	0	0	0	0	1	0	0	0	6109	768	27	1	1681	1	FRMPD1	9	37740152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221777	37740152	103473279	7246	30748											
DCAF10	79269	broad.mit.edu	37	chr9	37854804	37854804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgggtgtccacataaGaaattctttcacacacgttt	13	12	8	8	1	2	2	1	0	1	2	3	3	3	2	1	1	0	1	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37854804G>T	ENST00000242323.7	+	4	953	c.879G>T	c.(877-879)aaG>aaT	p.K293N	DCAF10_ENST00000377724.3_Missense_Mutation_p.K293N|RP11-613M10.9_ENST00000540557.1_Intron			Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	293						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						GTCCACATAAGAAATTCTTTC	0.343													T	37854804	G	T	37854804	3	4	364	1	0	0	0	0	1	0	0	0	4295	933	33	4	893	4	DCAF10	9	37854804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114652	37854804	103358627	7247	30749											
DCAF10	79269	broad.mit.edu	37	chr9	37857348	37857348	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgagcctctcaaagagaaGgtaggttaaaagttggattt	14	10	11	6	1	1	1	1	0	1	1	2	4	1	2	1	3	1	3	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:37857348G>T	ENST00000377724.3	+	5	1530	c.1165G>T	c.(1165-1167)Gga>Tga	p.G389*	DCAF10_ENST00000242323.7_Intron|RP11-613M10.9_ENST00000540557.1_Intron|DCAF10_ENST00000483167.1_Intron	NM_024345.3	NP_077321.3	Q5QP82	DCA10_HUMAN	DDB1 and CUL4 associated factor 10	389						CUL4 RING ubiquitin ligase complex				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	12						TCAAAGAGAAGGTAGGTTAAA	0.333													T	37857348	G	T	37857348	5	4	364	1	0	0	0	0	0	0	1	0	4295	1014	35	4	1183	4	DCAF10	9	37857348	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2544	37857348	103356083	7248	30750											
SHB	6461	broad.mit.edu	37	chr9	38068631	38068631	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagctgaagtacttgtttagCcacttggccatggcgagagg	10	10	13	8	1	0	2	0	1	0	1	0	3	0	2	2	3	3	3	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38068631C>T	ENST00000377707.3	-	1	577	c.12G>A	c.(10-12)tgG>tgA	p.W4*	SHB_ENST00000377700.4_Nonsense_Mutation_p.W4*|RP11-613M10.9_ENST00000540557.1_Nonsense_Mutation_p.W4*	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	4	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		ACTTGTTTAGCCACTTGGCCA	0.741													T	38068631	C	T	38068631	4	4	364	1	0	0	0	0	0	1	0	0	14362	740	26	2	1541	2	SHB	9	38068631	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211283	38068631	103144800	7249	30751											
ALDH1B1	219	broad.mit.edu	37	chr9	38395947	38395947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggaggtcattgggcacGtggctgaaggtgaccgggct	6	7	19	9	3	1	2	1	2	0	0	1	3	1	3	2	7	0	3	2	7	1	1	rs143477600		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38395947G>A	ENST00000377698.3	+	2	355	c.202G>A	c.(202-204)Gtg>Atg	p.V68M		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	68					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CATTGGGCACGTGGCTGAAGG	0.617													A	38395947	G	A	38395947	3	1	364	1	0	0	0	0	1	0	0	0	493	1145	40	1	204	1	ALDH1B1	9	38395947	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327316	38395947	102817484	7250	30752											
ALDH1B1	219	broad.mit.edu	37	chr9	38396998	38396998	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgccaaagaggagatctTtgggcctgtgcagcccctgt	9	10	12	10	0	1	2	0	0	1	2	1	3	1	2	4	2	3	1	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38396998T>G	ENST00000377698.3	+	2	1406	c.1253T>G	c.(1252-1254)tTt>tGt	p.F418C		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	418					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	GAGGAGATCTTTGGGCCTGTG	0.557													G	38396998	T	G	38396998	3	3	364	1	0	0	0	0	1	0	0	0	493	1841	64	5	1255	5	ALDH1B1	9	38396998	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1051	38396998	102816433	7251	30753											
IGFBPL1	347252	broad.mit.edu	37	chr9	38411458	38411458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttactcagatctagaaccGtcactgtgctgtgggactca	10	12	9	10	1	4	2	3	0	1	2	4	3	4	3	1	1	3	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38411458G>A	ENST00000377694.1	-	4	798	c.776C>T	c.(775-777)aCg>aTg	p.T259M		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	259	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		ATCTAGAACCGTCACTGTGCT	0.483													A	38411458	G	A	38411458	3	1	364	1	0	0	0	0	1	0	0	0	7643	1145	40	1	64	1	IGFBPL1	9	38411458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14460	38411458	102801973	7252	30754											
IGFBPL1	347252	broad.mit.edu	37	chr9	38413250	38413250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccaaaatccaggccgtgGcctcatggtcagaagggccc	10	6	11	14	1	3	1	3	0	0	1	4	1	4	1	5	4	0	0	5	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:38413250G>T	ENST00000377694.1	-	3	693	c.671C>A	c.(670-672)gCc>gAc	p.A224D		NM_001007563.1	NP_001007564.1	Q8WX77	IBPL1_HUMAN	insulin-like growth factor binding protein-like 1	224	Ig-like C2-type.				regulation of cell growth	extracellular region	insulin-like growth factor binding			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(29;0.0437)|Lung(182;0.116)		CCAGGCCGTGGCCTCATGGTC	0.473													T	38413250	G	T	38413250	3	4	364	1	0	0	0	0	1	0	0	0	7643	1203	42	4	173	4	IGFBPL1	9	38413250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1792	38413250	102800181	7253	30755											
ZNF658	26149	broad.mit.edu	37	chr9	40773300	40773300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctcccacattcattacattCatagggtttctcccctgtgt	7	16	5	13	0	4	0	2	0	2	0	6	0	4	0	3	1	1	1	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:40773300C>T	ENST00000602553.1	-	5	2269	c.1975G>A	c.(1975-1977)Gaa>Aaa	p.E659K	ZNF658_ENST00000441795.1_Intron|ZNF658_ENST00000377626.3_Missense_Mutation_p.E659K			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	659					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TCATTACATTCATAGGGTTTC	0.418													T	40773300	C	T	40773300	3	4	364	1	0	0	0	0	1	0	0	0	18170	835	29	2	1208	2	ZNF658	9	40773300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2360050	40773300	100440131	7254	30756											
PGM5	5239	broad.mit.edu	37	chr9	71114241	71114241	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactgtacgcagagagctaCgagagggatcccagcggcca	12	4	14	11	3	0	3	0	0	0	3	1	6	1	4	2	2	4	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71114241C>T	ENST00000396396.1	+	10	1807	c.1578C>T	c.(1576-1578)taC>taT	p.Y526Y		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	526					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						CAGAGAGCTACGAGAGGGATC	0.577													T	71114241	C	T	71114241	2	4	364	1	0	0	0	0	0	0	0	1	11878	547	19	1		1	PGM5	9	71114241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30340941	71114241	70099190	7255	30757											
TJP2	9414	broad.mit.edu	37	chr9	71833262	71833262	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagctcagaaaaagtgggaAggtcgctgctattgtaagta	13	9	13	6	1	1	1	1	0	0	1	2	2	1	2	0	2	2	6	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71833262A>G	ENST00000377245.4	+	4	537	c.329A>G	c.(328-330)aAg>aGg	p.K110R	TJP2_ENST00000535702.1_Missense_Mutation_p.K114R|TJP2_ENST00000539225.1_Missense_Mutation_p.K141R|TJP2_ENST00000377259.1_Missense_Mutation_p.K87R|TJP2_ENST00000453658.2_Missense_Mutation_p.K87R|TJP2_ENST00000265384.7_Missense_Mutation_p.K110R|TJP2_ENST00000348208.4_Missense_Mutation_p.K110R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	110	PDZ 1.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						AAAAGTGGGAAGGTCGCTGCT	0.433													G	71833262	A	G	71833262	3	3	364	1	0	0	0	0	1	0	0	0	16030	72	3	3	500	3	TJP2	9	71833262	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	719021	71833262	69380169	7256	30758											
TJP2	9414	broad.mit.edu	37	chr9	71869245	71869245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagaacactccaagcgCggttactatggccagtctgc	9	9	10	13	2	2	1	1	0	1	1	3	1	3	1	2	2	4	1	2	2	4	2	rs147675640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:71869245C>T	ENST00000377245.4	+	23	3736	c.3528C>T	c.(3526-3528)cgC>cgT	p.R1176R	TJP2_ENST00000535702.1_Silent_p.R1143R|TJP2_ENST00000539225.1_Silent_p.R1207R|TJP2_ENST00000453658.2_Silent_p.R1006R|TJP2_ENST00000348208.4_Silent_p.R1029R	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	1176					cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						ACTCCAAGCGCGGTTACTATG	0.552													T	71869245	C	T	71869245	2	4	364	1	0	0	0	0	0	0	0	1	16030	755	27	1		1	TJP2	9	71869245	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35983	71869245	69344186	7257	30759											
APBA1	320	broad.mit.edu	37	chr9	72131307	72131307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcttcacctcggccaCtatctggtcgatgtcctcct	4	13	8	16	2	3	0	1	0	2	0	7	1	5	0	4	2	1	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131307C>A	ENST00000265381.4	-	2	1042	c.820G>T	c.(820-822)Gtg>Ttg	p.V274L		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	274	Munc-18-1 binding.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ACCTCGGCCACTATCTGGTCG	0.677													A	72131307	C	A	72131307	3	1	364	1	0	0	0	0	1	0	0	0	758	565	20	4	1741	4	APBA1	9	72131307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262062	72131307	69082124	7258	30760											
APBA1	320	broad.mit.edu	37	chr9	72131763	72131763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctcggcctcgggccggtActgcacagcataggcgctct	5	8	12	16	4	1	0	0	0	1	0	4	0	2	0	3	4	3	4	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72131763A>G	ENST00000265381.4	-	2	586	c.364T>C	c.(364-366)Tac>Cac	p.Y122H		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	122					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						TCGGGCCGGTACTGCACAGCA	0.731													G	72131763	A	G	72131763	3	3	364	1	0	0	0	0	1	0	0	0	758	391	14	3	2197	3	APBA1	9	72131763	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	456	72131763	69081668	7259	30761											
PTAR1	375743	broad.mit.edu	37	chr9	72338485	72338485	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcggtagtgaaatccaCtgtggtctgaaacgtgcata	11	10	12	8	2	1	2	0	2	1	0	2	2	2	2	1	3	2	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72338485C>A	ENST00000377200.5	-	4	469	c.467G>T	c.(466-468)aGt>aTt	p.S156I	PTAR1_ENST00000340434.4_Missense_Mutation_p.S235I			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	235					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						GTGAAATCCACTGTGGTCTGA	0.398													A	72338485	C	A	72338485	3	1	364	1	0	0	0	0	1	0	0	0	12809	565	20	4	516	4	PTAR1	9	72338485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206722	72338485	68874946	7260	30762											
SMC5	23137	broad.mit.edu	37	chr9	72897424	72897424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcagaaaacttaaagaaggGcagattcctgtaacatgtcg	15	9	10	7	1	1	3	1	0	0	3	3	3	2	3	1	1	2	2	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72897424G>A	ENST00000361138.5	+	7	964	c.906G>A	c.(904-906)ggG>ggA	p.G302G		NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	302					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTAAAGAAGGGCAGATTCCTG	0.368													A	72897424	G	A	72897424	2	1	364	1	0	0	0	0	0	0	0	1	14880	1190	42	2		2	SMC5	9	72897424	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	558939	72897424	68316007	7261	30763											
SMC5	23137	broad.mit.edu	37	chr9	72962005	72962006	+	Frame_Shift_Ins	INS	-	-	T																															tccaagaccttccaaacacaINSttggatgaaattgatgcttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72962005_72962006insT	ENST00000361138.5	+	20	2650_2651	c.2592_2593insT	c.(2593-2595)ttgfs	p.L865fs	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	865					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						TTCCAAACACATTGGATGAAAT	0.356													T	72962006	-	T	72962005	7	5	364	1	0	1	1	0	0	0	0	0	14880	204	8	0	2670	0	SMC5	9	72962005	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	64581	72962005	68251426	7262	30764											
SMC5	23137	broad.mit.edu	37	chr9	72967143	72967143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttattctgaaaagatgacaGttttgtttgtctacaatggc	11	16	8	6	0	2	3	0	2	2	1	2	3	2	3	0	1	1	2	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:72967143G>A	ENST00000361138.5	+	25	3260	c.3202G>A	c.(3202-3204)Gtt>Att	p.V1068I	SMC5_ENST00000471372.1_3'UTR	NM_015110.3	NP_055925.2	Q8IY18	SMC5_HUMAN	structural maintenance of chromosomes 5	1068					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(4)	35						AAAGATGACAGTTTTGTTTGT	0.378													A	72967143	G	A	72967143	3	1	364	1	0	0	0	0	1	0	0	0	14880	1029	36	2	3300	2	SMC5	9	72967143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5138	72967143	68246288	7263	30765											
TRPM3	80036	broad.mit.edu	37	chr9	73426150	73426150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggagtcaagagagaaaaaCggcaggcatcctgtcaaaaa	17	4	12	8	2	2	2	2	0	0	2	3	4	3	3	1	3	1	2	1	3	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73426150C>T	ENST00000377106.1	-	7	879	c.525G>A	c.(523-525)ccG>ccA	p.P175P	TRPM3_ENST00000396280.5_Intron|TRPM3_ENST00000396285.1_Intron|TRPM3_ENST00000377110.3_Intron|TRPM3_ENST00000377101.1_Intron|TRPM3_ENST00000358082.3_Silent_p.P175P|TRPM3_ENST00000423814.3_Silent_p.P330P|TRPM3_ENST00000396292.4_Silent_p.P175P|TRPM3_ENST00000361823.5_Intron|TRPM3_ENST00000357533.2_Intron|TRPM3_ENST00000396283.1_Silent_p.P175P|TRPM3_ENST00000377111.2_Intron|TRPM3_ENST00000377105.1_Intron|TRPM3_ENST00000408909.2_Intron|TRPM3_ENST00000360823.2_Silent_p.P175P	NM_020952.4|NM_206946.3	NP_066003.3|NP_996829.3	Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3	328						integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GAGAGAAAAACGGCAGGCATC	0.338													T	73426150	C	T	73426150	2	4	364	1	0	0	0	0	0	0	0	1	16688	523	19	1		1	TRPM3	9	73426150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	459007	73426150	67787281	7264	30766											
TRPM3	80036	broad.mit.edu	37	chr9	73461449	73461449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaagctccaactgccatTccttggtcatcaggtgtaag	9	11	11	10	0	2	0	2	0	0	0	4	1	4	1	3	3	3	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:73461449T>C	ENST00000377110.3	-	4	764	c.521A>G	c.(520-522)gAa>gGa	p.E174G	TRPM3_ENST00000396280.5_Missense_Mutation_p.E21G|TRPM3_ENST00000396285.1_Missense_Mutation_p.E21G|TRPM3_ENST00000377101.1_Missense_Mutation_p.E21G|TRPM3_ENST00000358082.3_Missense_Mutation_p.E21G|TRPM3_ENST00000423814.3_Missense_Mutation_p.E176G|TRPM3_ENST00000396292.4_Missense_Mutation_p.E21G|TRPM3_ENST00000361823.5_Missense_Mutation_p.E21G|TRPM3_ENST00000357533.2_Missense_Mutation_p.E176G|TRPM3_ENST00000396283.1_Missense_Mutation_p.E21G|TRPM3_ENST00000377097.3_Missense_Mutation_p.E21G|TRPM3_ENST00000377106.1_Missense_Mutation_p.E21G|TRPM3_ENST00000377111.2_Missense_Mutation_p.E174G|TRPM3_ENST00000377105.1_Missense_Mutation_p.E21G|TRPM3_ENST00000408909.2_Missense_Mutation_p.E21G|TRPM3_ENST00000360823.2_Missense_Mutation_p.E21G			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						CAACTGCCATTCCTTGGTCAT	0.478													C	73461449	T	C	73461449	3	2	364	1	0	0	0	0	1	0	0	0	16688	1783	62	3	4813	3	TRPM3	9	73461449	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35299	73461449	67751982	7265	30767											
TMEM2	23670	broad.mit.edu	37	chr9	74300191	74300191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgggacaaccatattcGtccagctgcaaaggtatgaa	12	9	10	10	1	1	1	0	1	1	0	3	2	2	2	2	2	3	4	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74300191G>A	ENST00000377044.4	-	24	4613	c.4074C>T	c.(4072-4074)gaC>gaT	p.D1358D	TMEM2_ENST00000377066.5_Silent_p.D1295D|TMEM2_ENST00000396272.3_Silent_p.D351D	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	1358						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AACCATATTCGTCCAGCTGCA	0.463													A	74300191	G	A	74300191	2	1	364	1	0	0	0	0	0	0	0	1	16221	1136	40	1		1	TMEM2	9	74300191	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	838742	74300191	66913240	7266	30768											
TMEM2	23670	broad.mit.edu	37	chr9	74345048	74345048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagttgttcctatcggtgGgcaggagagtacccggcttg	6	11	16	8	2	0	1	0	0	0	1	2	3	1	2	2	5	1	5	2	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345048G>A	ENST00000377044.4	-	9	2434	c.1895C>T	c.(1894-1896)cCc>cTc	p.P632L	TMEM2_ENST00000377066.5_Missense_Mutation_p.P569L	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	632						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CCTATCGGTGGGCAGGAGAGT	0.458													A	74345048	G	A	74345048	3	1	364	1	0	0	0	0	1	0	0	0	16221	1232	43	2	2320	2	TMEM2	9	74345048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44857	74345048	66868383	7267	30769											
TMEM2	23670	broad.mit.edu	37	chr9	74345102	74345102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtggaacaaagtattcCtctgttcaataccatcttcc	11	14	6	10	0	3	0	1	0	2	0	5	2	5	1	3	1	2	2	3	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74345102C>A	ENST00000377044.4	-	9	2380	c.1841G>T	c.(1840-1842)aGg>aTg	p.R614M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R551M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	614						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CAAAGTATTCCTCTGTTCAAT	0.423													A	74345102	C	A	74345102	3	1	364	1	0	0	0	0	1	0	0	0	16221	681	24	4	2374	4	TMEM2	9	74345102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54	74345102	66868329	7268	30770											
TMEM2	23670	broad.mit.edu	37	chr9	74361227	74361227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtcctggatcccaattcCtgagacgaggattttgatct	8	14	9	10	1	1	2	0	2	1	1	4	6	4	4	3	2	0	0	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:74361227C>A	ENST00000377044.4	-	3	901	c.362G>T	c.(361-363)aGg>aTg	p.R121M	TMEM2_ENST00000377066.5_Missense_Mutation_p.R121M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	121	G8.					integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ATCCCAATTCCTGAGACGAGG	0.418													A	74361227	C	A	74361227	3	1	364	1	0	0	0	0	1	0	0	0	16221	681	24	4	3877	4	TMEM2	9	74361227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16125	74361227	66852204	7269	30771											
TRPM6	140803	broad.mit.edu	37	chr9	77365589	77365589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatactcacagggagttcCtattgaggttggtgctcctg	9	12	12	8	0	1	1	1	1	0	0	3	3	3	2	2	3	2	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77365589C>A	ENST00000451710.3	-	30	5285	c.5048G>T	c.(5047-5049)aGg>aTg	p.R1683M	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1683M|TRPM6_ENST00000376872.3_Missense_Mutation_p.R634M|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1678M|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1683M|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1678M|TRPM6_ENST00000376871.3_Missense_Mutation_p.R516M			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1683					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CAGGGAGTTCCTATTGAGGTT	0.418													A	77365589	C	A	77365589	3	1	364	1	0	0	0	0	1	0	0	0	16691	681	24	4	1060	4	TRPM6	9	77365589	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3004362	77365589	63847842	7270	30772											
TRPM6	140803	broad.mit.edu	37	chr9	77377064	77377064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgagcattcactactcTgggccgatcttgttgagtta	7	14	9	11	1	4	2	1	2	3	0	4	3	4	2	2	1	2	3	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77377064T>C	ENST00000451710.3	-	26	4760	c.4523A>G	c.(4522-4524)cAg>cGg	p.Q1508R	TRPM6_ENST00000376864.4_Missense_Mutation_p.Q1508R|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.Q1503R|TRPM6_ENST00000360774.1_Missense_Mutation_p.Q1508R|TRPM6_ENST00000449912.2_Missense_Mutation_p.Q1503R|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1508					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TTCACTACTCTGGGCCGATCT	0.527													C	77377064	T	C	77377064	3	2	364	1	0	0	0	0	1	0	0	0	16691	1580	55	3	1601	3	TRPM6	9	77377064	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11475	77377064	63836367	7271	30773											
TRPM6	140803	broad.mit.edu	37	chr9	77386687	77386687	+	Frame_Shift_Del	DEL	T	T	-																															tccatcttctcatggaagtaTttttccacgcactgctcctc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77386687delT	ENST00000451710.3	-	25	3705	c.3468delA	c.(3466-3468)aaafs	p.K1156fs	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Frame_Shift_Del_p.K1156fs|TRPM6_ENST00000360774.1_Frame_Shift_Del_p.K1156fs|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Frame_Shift_Del_p.K1151fs|TRPM6_ENST00000449912.2_Frame_Shift_Del_p.K1151fs			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1156					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATGGAAGTATTTTTCCACGC	0.353													-	77386687	T	-	77386687	7	5	364	1	0	1	0	1	0	0	0	0	16691	1490	52	0	2660	0	TRPM6	9	77386687	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	9623	77386687	63826744	7272	30774											
TRPM6	140803	broad.mit.edu	37	chr9	77400893	77400893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctatgcagtagatcagtCttcccgctgtgtgaaaagga	10	12	11	8	1	3	2	1	1	2	1	4	3	4	3	1	1	1	3	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77400893C>A	ENST00000451710.3	-	21	3053	c.2816G>T	c.(2815-2817)aGa>aTa	p.R939I	TRPM6_ENST00000376864.4_Missense_Mutation_p.R939I|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R934I|TRPM6_ENST00000360774.1_Missense_Mutation_p.R939I|TRPM6_ENST00000449912.2_Missense_Mutation_p.R934I|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	939					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTAGATCAGTCTTCCCGCTGT	0.468													A	77400893	C	A	77400893	3	1	364	1	0	0	0	0	1	0	0	0	16691	913	32	4	3328	4	TRPM6	9	77400893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14206	77400893	63812538	7273	30775											
TRPM6	140803	broad.mit.edu	37	chr9	77457137	77457137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taatcgtgccaaaagtatctGttgggcttttcgttgtgtgc	7	16	11	7	2	1	0	0	0	1	0	3	0	1	0	1	1	2	4	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:77457137G>A	ENST00000451710.3	-	4	512	c.275C>T	c.(274-276)aCa>aTa	p.T92I	TRPM6_ENST00000376864.4_Missense_Mutation_p.T92I|TRPM6_ENST00000376872.3_Missense_Mutation_p.T92I|TRPM6_ENST00000361255.3_Missense_Mutation_p.T87I|TRPM6_ENST00000360774.1_Missense_Mutation_p.T92I|TRPM6_ENST00000359047.2_Missense_Mutation_p.T92I|TRPM6_ENST00000449912.2_Missense_Mutation_p.T87I|TRPM6_ENST00000376871.3_Missense_Mutation_p.T92I			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	92					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						AAAAGTATCTGTTGGGCTTTT	0.418													A	77457137	G	A	77457137	3	1	364	1	0	0	0	0	1	0	0	0	16691	1377	48	2	5937	2	TRPM6	9	77457137	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56244	77457137	63756294	7274	30776											
PCSK5	5125	broad.mit.edu	37	chr9	78601108	78601108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagggattatgacttcagtCgtgcccagtctacctatttc	9	13	9	10	1	2	2	1	1	1	1	4	3	2	3	2	1	2	0	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78601108C>T	ENST00000545128.1	+	3	896	c.358C>T	c.(358-360)Cgt>Tgt	p.R120C	PCSK5_ENST00000376767.3_Missense_Mutation_p.R120C|PCSK5_ENST00000376752.4_Missense_Mutation_p.R120C	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	120	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGACTTCAGTCGTGCCCAGTC	0.473													T	78601108	C	T	78601108	3	4	364	1	0	0	0	0	1	0	0	0	11679	884	31	1	368	1	PCSK5	9	78601108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1143971	78601108	62612323	7275	30777											
PCSK5	5125	broad.mit.edu	37	chr9	78638728	78638728	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagaggctacacgggAaagaacattgtggtcactat	14	8	13	6	1	1	2	1	0	0	2	1	5	1	4	0	4	2	1	0	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78638728A>C	ENST00000545128.1	+	4	1024	c.486A>C	c.(484-486)ggA>ggC	p.G162G	PCSK5_ENST00000376767.3_Silent_p.G162G|PCSK5_ENST00000376752.4_Silent_p.G162G	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	162	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTACACGGGAAAGAACATTG	0.473													C	78638728	A	C	78638728	2	2	364	1	0	0	0	0	0	0	0	1	11679	233	9	5		5	PCSK5	9	78638728	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	37620	78638728	62574703	7276	30778											
PCSK5	5125	broad.mit.edu	37	chr9	78710934	78710934	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagcactgcagaaagCggaaagaaaccttggtacct	15	6	10	10	1	1	2	1	0	0	2	1	3	1	3	2	2	6	4	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78710934C>T	ENST00000545128.1	+	8	1561	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	PCSK5_ENST00000376752.4_Silent_p.S341S|PCSK5_ENST00000376767.3_Silent_p.S341S	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	341	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGCAGAAAGCGGAAAGAAAC	0.512													T	78710934	C	T	78710934	2	4	364	1	0	0	0	0	0	0	0	1	11679	767	27	1		1	PCSK5	9	78710934	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72206	78710934	62502497	7277	30779											
PCSK5	5125	broad.mit.edu	37	chr9	78808156	78808156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgacttctggaaaagcaaCggaagagtcctgggcggaag	12	6	15	8	2	1	2	0	1	1	1	2	5	2	5	1	4	2	2	1	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78808156C>T	ENST00000376752.4	+	21	3107	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	PCSK5_ENST00000545128.1_Intron	NM_006200.3	NP_006191.2	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	877	PLAC.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGAAAAGCAACGGAAGAGTCC	0.473													T	78808156	C	T	78808156	3	4	364	1	0	0	0	0	1	0	0	0	11679	536	19	1	2712	1	PCSK5	9	78808156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97222	78808156	62405275	7278	30780											
PCSK5	5125	broad.mit.edu	37	chr9	78923581	78923581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atattttgagaaaactccagCcttgtcattcttcttgtaaa	12	16	5	8	0	3	1	1	1	2	1	4	2	4	1	2	0	2	1	2	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78923581C>A	ENST00000545128.1	+	28	4082	c.3544C>A	c.(3544-3546)Cct>Act	p.P1182T		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	901					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AAAACTCCAGCCTTGTCATTC	0.423													A	78923581	C	A	78923581	3	1	364	1	0	0	0	0	1	0	0	0	11679	754	26	4		4	PCSK5	9	78923581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115425	78923581	62289850	7279	30781											
PCSK5	5125	broad.mit.edu	37	chr9	78973785	78973785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatatgggctgctggatgacGatgacatagatgagctggaa	13	9	14	5	1	0	4	0	3	0	1	0	7	0	6	0	3	2	3	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:78973785G>A	ENST00000545128.1	+	37	6068	c.5530G>A	c.(5530-5532)Gat>Aat	p.D1844N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTGGATGACGATGACATAGA	0.493													A	78973785	G	A	78973785	3	1	364	1	0	0	0	0	1	0	0	0	11679	1073	37	1		1	PCSK5	9	78973785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50204	78973785	62239646	7280	30782											
PRUNE2	158471	broad.mit.edu	37	chr9	79321301	79321301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgatcacagactggcagCatggtgtcctgacactgctc	9	9	12	11	0	1	3	1	2	0	1	3	4	2	4	1	3	2	3	1	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79321301C>A	ENST00000428286.1	-	8	6012	c.4812G>T	c.(4810-4812)atG>atT	p.M1604I	PRUNE2_ENST00000376718.3_Missense_Mutation_p.M1963I			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1963					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						AGACTGGCAGCATGGTGTCCT	0.438													A	79321301	C	A	79321301	3	1	364	1	0	0	0	0	1	0	0	0	12726	710	25	4	3425	4	PRUNE2	9	79321301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	347516	79321301	61892130	7281	30783											
PRUNE2	158471	broad.mit.edu	37	chr9	79324162	79324162	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagtgactgaggaggaaTgtcagtctcctctgccgtgg	7	11	14	9	1	3	2	1	2	2	0	4	4	3	4	2	3	2	1	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79324162T>G	ENST00000428286.1	-	8	3151	c.1951A>C	c.(1951-1953)Att>Ctt	p.I651L	PRUNE2_ENST00000376718.3_Missense_Mutation_p.I1010L			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1010					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						TGAGGAGGAATGTCAGTCTCC	0.453													G	79324162	T	G	79324162	3	3	364	1	0	0	0	0	1	0	0	0	12726	1464	51	5	6286	5	PRUNE2	9	79324162	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2861	79324162	61889269	7282	30784											
VPS13A	23230	broad.mit.edu	37	chr9	79952386	79952386	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttgggatttaccatacaTaatgcatttgtggccaccta	10	14	9	8	0	0	0	0	0	0	0	0	1	0	1	3	3	3	2	3	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79952386T>C	ENST00000360280.3	+	47	6571	c.6311T>C	c.(6310-6312)aTa>aCa	p.I2104T	VPS13A_ENST00000376636.3_Missense_Mutation_p.I2065T|VPS13A_ENST00000376634.4_Missense_Mutation_p.I2104T|VPS13A_ENST00000357409.5_Missense_Mutation_p.I2104T	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2104					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTACCATACATAATGCATTTG	0.348													C	79952386	T	C	79952386	3	2	364	1	0	0	0	0	1	0	0	0	17291	1406	49	3	6497	3	VPS13A	9	79952386	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	628224	79952386	61261045	7283	30785											
VPS13A	23230	broad.mit.edu	37	chr9	79954682	79954682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggtcagacagttgtggCatttcatagtccttattgga	9	15	10	7	0	2	1	2	0	0	1	3	2	3	2	1	3	1	2	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79954682C>T	ENST00000360280.3	+	48	6889	c.6629C>T	c.(6628-6630)gCa>gTa	p.A2210V	VPS13A_ENST00000376636.3_Missense_Mutation_p.A2171V|VPS13A_ENST00000376634.4_Missense_Mutation_p.A2210V|VPS13A_ENST00000357409.5_Missense_Mutation_p.A2210V	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2210					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACAGTTGTGGCATTTCATAGT	0.368													T	79954682	C	T	79954682	3	4	364	1	0	0	0	0	1	0	0	0	17291	710	25	2	6819	2	VPS13A	9	79954682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2296	79954682	61258749	7284	30786											
VPS13A	23230	broad.mit.edu	37	chr9	79955198	79955198	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcctgaaaatggactatcaAgtgagttcattctatgctta	12	13	9	7	0	3	2	2	2	1	0	3	3	3	3	1	2	1	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:79955198A>G	ENST00000360280.3	+	49	7139	c.6879A>G	c.(6877-6879)caA>caG	p.Q2293Q	VPS13A_ENST00000376636.3_Splice_Site_p.Q2254Q|VPS13A_ENST00000376634.4_Splice_Site_p.Q2293Q|VPS13A_ENST00000357409.5_Splice_Site_p.Q2293Q	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2293					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGACTATCAAGTGAGTTCAT	0.284													G	79955198	A	G	79955198	5	3	364	1	0	0	0	0	0	0	1	0	17291	86	3	3	7073	3	VPS13A	9	79955198	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	516	79955198	61258233	7285	30787											
GNA14	9630	broad.mit.edu	37	chr9	80040524	80040524	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgagagtacatgattttCtcttccaaaagatccttctt	12	15	6	8	0	2	4	0	2	2	3	5	5	4	4	2	0	1	1	2	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80040524C>A	ENST00000341700.6	-	6	1344	c.831G>T	c.(829-831)gaG>gaT	p.E277D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	277					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						ACATGATTTTCTCTTCCAAAA	0.403													A	80040524	C	A	80040524	3	1	364	1	0	0	0	0	1	0	0	0	6558	912	32	4	244	4	GNA14	9	80040524	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85326	80040524	61172907	7286	30788											
CEP78	84131	broad.mit.edu	37	chr9	80866931	80866931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggtttcttgccgtggCgtactgcagaacgtgcaaaa	8	12	12	9	3	2	1	0	0	2	1	2	1	2	1	1	2	5	4	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80866931C>T	ENST00000424347.2	+	9	1466	c.1177C>T	c.(1177-1179)Cgt>Tgt	p.R393C	CEP78_ENST00000376597.4_Missense_Mutation_p.R394C|CEP78_ENST00000415759.2_Missense_Mutation_p.R394C|CEP78_ENST00000277082.5_Missense_Mutation_p.R393C|CEP78_ENST00000376598.2_Missense_Mutation_p.R393C			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	393					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						CTTGCCGTGGCGTACTGCAGA	0.403													T	80866931	C	T	80866931	3	4	364	1	0	0	0	0	1	0	0	0	3292	768	27	1	1214	1	CEP78	9	80866931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	826407	80866931	60346500	7287	30789											
PSAT1	29968	broad.mit.edu	37	chr9	80921249	80921249	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattccagatccaagcacCtggaacctcaacccagatgc	14	6	7	14	0	1	2	1	0	0	2	3	4	3	3	5	1	4	1	5	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:80921249C>A	ENST00000376588.3	+	5	485	c.417C>A	c.(415-417)acC>acA	p.T139T	PSAT1_ENST00000347159.2_Silent_p.T139T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	139					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	ATCCAAGCACCTGGAACCTCA	0.463													A	80921249	C	A	80921249	2	1	364	1	0	0	0	0	0	0	0	1	12729	668	24	4		4	PSAT1	9	80921249	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54318	80921249	60292182	7288	30790											
RASEF	158158	broad.mit.edu	37	chr9	85615413	85615413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccttcactaacagaccCttggggcttccagtctaaga	9	10	9	13	0	2	2	1	0	1	2	3	2	3	2	3	2	2	2	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85615413C>A	ENST00000376447.3	-	11	1770	c.1510G>T	c.(1510-1512)Ggg>Tgg	p.G504W		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	504					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTAACAGACCCTTGGGGCTTC	0.448													A	85615413	C	A	85615413	3	1	364	1	0	0	0	0	1	0	0	0	13156	681	24	4	740	4	RASEF	9	85615413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4694164	85615413	55598018	7289	30791											
RASEF	158158	broad.mit.edu	37	chr9	85640766	85640766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgaagttctttataacatGttcatatggctgaattaatc	13	16	7	5	0	2	2	1	2	1	0	3	3	2	2	0	1	1	3	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:85640766G>A	ENST00000376447.3	-	2	762	c.502C>T	c.(502-504)Cat>Tat	p.H168Y		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	168					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTATAACATGTTCATATGGC	0.358													A	85640766	G	A	85640766	3	1	364	1	0	0	0	0	1	0	0	0	13156	1377	48	2	1784	2	RASEF	9	85640766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25353	85640766	55572665	7290	30792											
UBQLN1	29979	broad.mit.edu	37	chr9	86297963	86297963	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtatttgtttgctgAgctgaatgatcctgaggcct	7	14	11	9	0	0	4	0	4	0	0	1	4	1	4	3	1	3	5	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86297963A>G	ENST00000376395.4	-	3	874	c.351T>C	c.(349-351)gcT>gcC	p.A117A	UBQLN1_ENST00000257468.7_Silent_p.A117A	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	117					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTGTTTGCTGAGCTGAATGAT	0.408													G	86297963	A	G	86297963	2	3	364	1	0	0	0	0	0	0	0	1	16998	291	11	3		3	UBQLN1	9	86297963	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	657197	86297963	54915468	7291	30793											
GKAP1	80318	broad.mit.edu	37	chr9	86399660	86399660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcttttagtgatactgTgagaggtctgtcttttccct	9	17	8	7	0	3	2	0	2	3	1	4	3	4	2	1	1	1	0	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86399660T>C	ENST00000376371.2	-	6	932	c.532A>G	c.(532-534)Aca>Gca	p.T178A	GKAP1_ENST00000376365.3_Missense_Mutation_p.T178A	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	178					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						AGTGATACTGTGAGAGGTCTG	0.299													C	86399660	T	C	86399660	3	2	364	1	0	0	0	0	1	0	0	0	6479	1696	59	3	600	3	GKAP1	9	86399660	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	101697	86399660	54813771	7292	30794											
KIF27	55582	broad.mit.edu	37	chr9	86518586	86518586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgaactcttcctgcgtgggtCcccaagagcgcttattacat	8	12	9	12	2	1	2	0	1	1	1	3	2	3	2	3	1	4	1	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86518586C>T	ENST00000297814.2	-	4	990	c.847G>A	c.(847-849)Gac>Aac	p.D283N	KIF27_ENST00000413982.1_Missense_Mutation_p.D283N|KIF27_ENST00000334204.2_Missense_Mutation_p.D283N	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	283					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTGCGTGGGTCCCCAAGAGCG	0.438													T	86518586	C	T	86518586	3	4	364	1	0	0	0	0	1	0	0	0	8354	855	30	2	3418	2	KIF27	9	86518586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118926	86518586	54694845	7293	30795											
KIF27	55582	broad.mit.edu	37	chr9	86523414	86523414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagatccttcatggatGtctccaattctagaagatct	11	14	8	8	0	4	4	1	1	3	3	6	5	5	5	2	1	0	0	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86523414G>A	ENST00000297814.2	-	3	595	c.452C>T	c.(451-453)aCa>aTa	p.T151I	KIF27_ENST00000413982.1_Missense_Mutation_p.T151I|KIF27_ENST00000334204.2_Missense_Mutation_p.T151I	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	151	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						CTTCATGGATGTCTCCAATTC	0.358													A	86523414	G	A	86523414	3	1	364	1	0	0	0	0	1	0	0	0	8354	1377	48	2	3817	2	KIF27	9	86523414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4828	86523414	54690017	7294	30796											
HNRNPK	3190	broad.mit.edu	37	chr9	86592687	86592687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttcctcttccatatcttCtgcagggcgtttacctaaaa	8	16	6	11	1	3	0	0	0	3	0	5	0	5	0	3	1	2	3	3	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86592687C>T	ENST00000376263.3	-	4	296	c.73G>A	c.(73-75)Gaa>Aaa	p.E25K	HNRNPK_ENST00000351839.3_Missense_Mutation_p.E25K|HNRNPK_ENST00000376281.4_Missense_Mutation_p.E25K|HNRNPK_ENST00000376264.2_Missense_Mutation_p.E25K|HNRNPK_ENST00000360384.5_Missense_Mutation_p.E25K	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	25	Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						TCCATATCTTCTGCAGGGCGT	0.358													T	86592687	C	T	86592687	3	4	364	1	0	0	0	0	1	0	0	0	7324	922	32	2	1412	2	HNRNPK	9	86592687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69273	86592687	54620744	7295	30797											
RMI1	80010	broad.mit.edu	37	chr9	86616977	86616977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacataatcctaatactaCgaataacttttctttgactt	13	17	2	9	1	2	1	1	1	1	0	3	2	3	1	1	0	3	0	1	0	6	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86616977C>T	ENST00000325875.3	+	3	1408	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	359					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CCTAATACTACGAATAACTTT	0.323													T	86616977	C	T	86616977	3	4	364	1	0	0	0	0	1	0	0	0	13486	536	19	1	1078	1	RMI1	9	86616977	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24290	86616977	54596454	7296	30798											
SLC28A3	64078	broad.mit.edu	37	chr9	86917129	86917129	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttaccacttcagccagaaCcaatggctgtttagaagcct	12	11	7	11	0	1	2	1	0	0	2	1	2	1	2	4	1	4	2	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:86917129C>A	ENST00000376238.4	-	5	559	c.510G>T	c.(508-510)tgG>tgT	p.W170C	SLC28A3_ENST00000537648.1_Missense_Mutation_p.W101C	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3	170					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						TCAGCCAGAACCAATGGCTGT	0.413													A	86917129	C	A	86917129	3	1	364	1	0	0	0	0	1	0	0	0	14627	508	18	4	1621	4	SLC28A3	9	86917129	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300152	86917129	54296302	7297	30799											
NTRK2	4915	broad.mit.edu	37	chr9	87342789	87342789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacatgaacaatggggaCtacactctaatagccaagaa	17	7	7	10	0	2	2	1	1	1	1	2	3	2	3	1	2	3	0	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87342789C>T	ENST00000304053.6	+	9	1557	c.1074C>T	c.(1072-1074)gaC>gaT	p.D358D	NTRK2_ENST00000376214.1_Silent_p.D358D|NTRK2_ENST00000376213.1_Silent_p.D358D|NTRK2_ENST00000395866.2_Silent_p.D202D|NTRK2_ENST00000323115.4_Silent_p.D358D|NTRK2_ENST00000359847.3_Silent_p.D358D|NTRK2_ENST00000277120.3_Silent_p.D358D|NTRK2_ENST00000376208.1_Silent_p.D358D|NTRK2_ENST00000395882.1_Silent_p.D358D	NM_001018065.2	NP_001018075.1	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	358	Ig-like C2-type 2.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						ACAATGGGGACTACACTCTAA	0.453										TSP Lung(25;0.17)			T	87342789	C	T	87342789	2	4	364	1	0	0	0	0	0	0	0	1	10783	564	20	2		2	NTRK2	9	87342789	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425660	87342789	53870642	7298	30800											
NTRK2	4915	broad.mit.edu	37	chr9	87635123	87635123	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatccctttctccccaggtCggtggccacacaatgctgcc	6	10	9	16	1	1	1	0	1	1	0	4	1	2	1	5	3	2	1	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:87635123C>T	ENST00000376214.1	+	20	3113	c.2175C>T	c.(2173-2175)gtC>gtT	p.V725V	NTRK2_ENST00000376213.1_Silent_p.V709V|NTRK2_ENST00000323115.4_Silent_p.V709V|NTRK2_ENST00000277120.3_Silent_p.V725V	NM_006180.3	NP_006171.2	Q16620	NTRK2_HUMAN	neurotrophic tyrosine kinase, receptor, type 2	709	Protein kinase.				activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development	integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein tyrosine kinase activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	46						CTCCCCAGGTCGGTGGCCACA	0.567										TSP Lung(25;0.17)			T	87635123	C	T	87635123	2	4	364	1	0	0	0	0	0	0	0	1	10783	871	31	1		1	NTRK2	9	87635123	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292334	87635123	53578308	7299	30801											
AGTPBP1	23287	broad.mit.edu	37	chr9	88248234	88248234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaacaacaataggaccaCgtacttttccctcaaataca	16	9	5	11	1	1	0	1	0	0	0	2	2	2	2	2	2	4	1	2	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88248234C>T	ENST00000357081.3	-	14	1502	c.1358G>A	c.(1357-1359)cGt>cAt	p.R453H	AGTPBP1_ENST00000376109.3_Missense_Mutation_p.R465H|AGTPBP1_ENST00000376083.3_Missense_Mutation_p.R413H|AGTPBP1_ENST00000337006.4_3'UTR|AGTPBP1_ENST00000432218.1_Missense_Mutation_p.R291H			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	453					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						AATAGGACCACGTACTTTTCC	0.333													T	88248234	C	T	88248234	3	4	364	1	0	0	0	0	1	0	0	0	400	536	19	1	2374	1	AGTPBP1	9	88248234	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613111	88248234	52965197	7300	30802											
NAA35	60560	broad.mit.edu	37	chr9	88576971	88576971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggcacagacagtatttaCgtgcctttacattcataatc	12	13	6	10	1	1	1	1	0	0	1	2	1	1	1	1	1	3	2	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88576971C>T	ENST00000361671.5	+	6	525	c.392C>T	c.(391-393)aCg>aTg	p.T131M	NAA35_ENST00000376040.1_Missense_Mutation_p.T131M	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	131					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane		p.T131M(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						ACAGTATTTACGTGCCTTTAC	0.363													T	88576971	C	T	88576971	3	4	364	1	0	0	0	0	1	0	0	0	10199	536	19	1	410	1	NAA35	9	88576971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	328737	88576971	52636460	7301	30803											
NAA35	60560	broad.mit.edu	37	chr9	88590033	88590033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttctttttctaggcatGctaaaagatgtggaggatga	10	16	11	4	0	2	2	0	1	2	1	2	4	2	4	0	3	1	3	0	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88590033G>A	ENST00000361671.5	+	8	721	c.588G>A	c.(586-588)atG>atA	p.M196I	NAA35_ENST00000376040.1_Missense_Mutation_p.M196I	NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	196					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						TTCTAGGCATGCTAAAAGATG	0.299													A	88590033	G	A	88590033	3	1	364	1	0	0	0	0	1	0	0	0	10199	1319	46	2	614	2	NAA35	9	88590033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13062	88590033	52623398	7302	30804											
NAA35	60560	broad.mit.edu	37	chr9	88628649	88628649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataggcagagaaggttgatGcagcgcttcacaccatgctg	12	8	12	9	1	1	2	1	1	0	1	1	3	1	2	1	2	3	5	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88628649G>A	ENST00000361671.5	+	17	1538	c.1405G>A	c.(1405-1407)Gca>Aca	p.A469T		NM_024635.3	NP_078911.3	Q5VZE5	NAA35_HUMAN	N(alpha)-acetyltransferase 35, NatC auxiliary subunit	469					smooth muscle cell proliferation	cytoplasm|nucleus|plasma membrane				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	25						GAAGGTTGATGCAGCGCTTCA	0.383													A	88628649	G	A	88628649	3	1	364	1	0	0	0	0	1	0	0	0	10199	1319	46	2	1467	2	NAA35	9	88628649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38616	88628649	52584782	7303	30805											
ZCCHC6	79670	broad.mit.edu	37	chr9	88940264	88940264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataccttcaatggcaatgcGctttttgggccaatccttca	9	13	8	11	1	2	0	2	0	0	0	3	1	3	0	3	2	2	2	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:88940264G>A	ENST00000375961.2	-	12	1988	c.1774C>T	c.(1774-1776)Cgc>Tgc	p.R592C	ZCCHC6_ENST00000375963.3_Missense_Mutation_p.R592C|ZCCHC6_ENST00000375960.2_Missense_Mutation_p.R469C|ZCCHC6_ENST00000277141.6_5'UTR			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	592	PAP-associated 1.				RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						ATGGCAATGCGCTTTTTGGGC	0.373													A	88940264	G	A	88940264	3	1	364	1	0	0	0	0	1	0	0	0	17693	1087	38	1	2777	1	ZCCHC6	9	88940264	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311615	88940264	52273167	7304	30806											
DAPK1	1612	broad.mit.edu	37	chr9	90272950	90272950	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctcttcccagtatgggCgaacgcctctgcaccttgcg	5	12	9	15	3	3	0	0	0	3	0	5	1	4	0	3	1	3	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90272950C>T	ENST00000469640.2	+	18	2206	c.1831C>T	c.(1831-1833)Cga>Tga	p.R611*	DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R611*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R611*|DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R611*|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R611*			P53355	DAPK1_HUMAN	death-associated protein kinase 1	611					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAGTATGGGCGAACGCCTCT	0.567									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90272950	C	T	90272950	4	4	364	1	0	0	0	0	0	1	0	0	4269	760	27	1	1897	1	DAPK1	9	90272950	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1332686	90272950	50940481	7305	30807											
DAPK1	1612	broad.mit.edu	37	chr9	90273032	90273032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggagccagcgttgaggCgctgaccacggtgagtgccc	7	6	17	11	3	0	3	0	3	0	0	0	5	0	4	3	3	3	2	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90273032C>T	ENST00000469640.2	+	18	2288	c.1913C>T	c.(1912-1914)gCg>gTg	p.A638V	DAPK1_ENST00000358077.5_Missense_Mutation_p.A638V|DAPK1_ENST00000491893.1_Missense_Mutation_p.A638V|DAPK1_ENST00000408954.3_Missense_Mutation_p.A638V|DAPK1_ENST00000466188.1_3'UTR|DAPK1_ENST00000472284.1_Missense_Mutation_p.A638V			P53355	DAPK1_HUMAN	death-associated protein kinase 1	638					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCGTTGAGGCGCTGACCACG	0.627									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90273032	C	T	90273032	3	4	364	1	0	0	0	0	1	0	0	0	4269	768	27	1	1979	1	DAPK1	9	90273032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82	90273032	50940399	7306	30808											
DAPK1	1612	broad.mit.edu	37	chr9	90313593	90313593	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcggtggcaagctgaagaaCccactccaagttgtcctggt	9	10	11	11	1	0	2	0	1	0	1	3	2	2	2	3	3	2	3	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90313593C>T	ENST00000469640.2	+	23	3009	c.2634C>T	c.(2632-2634)aaC>aaT	p.N878N	DAPK1_ENST00000358077.5_Silent_p.N878N|DAPK1_ENST00000491893.1_Silent_p.N812N|DAPK1_ENST00000408954.3_Silent_p.N878N|DAPK1_ENST00000472284.1_Silent_p.N878N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	878					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGCTGAAGAACCCACTCCAAG	0.597									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90313593	C	T	90313593	2	4	364	1	0	0	0	0	0	0	0	1	4269	506	18	2		2	DAPK1	9	90313593	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40561	90313593	50899838	7307	30809											
DAPK1	1612	broad.mit.edu	37	chr9	90315107	90315107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtcaaaggacatgaaGgtacttcgaaatcatctgca	13	10	10	8	1	4	1	2	1	2	0	5	3	4	2	0	3	2	2	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90315107G>T	ENST00000469640.2	+	24	3201	c.2826G>T	c.(2824-2826)aaG>aaT	p.K942N	DAPK1_ENST00000358077.5_Missense_Mutation_p.K942N|DAPK1_ENST00000491893.1_Missense_Mutation_p.K876N|DAPK1_ENST00000408954.3_Missense_Mutation_p.K942N|DAPK1_ENST00000472284.1_Missense_Mutation_p.K942N			P53355	DAPK1_HUMAN	death-associated protein kinase 1	942					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGGACATGAAGGTACTTCGAA	0.463									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90315107	G	T	90315107	3	4	364	1	0	0	0	0	1	0	0	0	4269	991	35	4	2916	4	DAPK1	9	90315107	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1514	90315107	50898324	7308	30810											
CDK20	23552	broad.mit.edu	37	chr9	90586220	90586220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcacaaagcctccacCgtgtgggaacacagccttca	11	5	10	15	1	1	0	1	0	0	0	2	1	2	1	5	2	4	1	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:90586220C>T	ENST00000375883.3	-	3	526	c.220G>A	c.(220-222)Ggt>Agt	p.G74S	CDK20_ENST00000336654.5_Missense_Mutation_p.G87S|CDK20_ENST00000375871.4_Missense_Mutation_p.G74S|CDK20_ENST00000605159.1_Missense_Mutation_p.G74S|CDK20_ENST00000325303.8_Missense_Mutation_p.G74S	NM_001170639.1|NM_012119.4|NM_178432.3	NP_001164110.1|NP_036251.2|NP_848519.1	Q8IZL9	CDK20_HUMAN	cyclin-dependent kinase 20	74	Protein kinase.				cell division|multicellular organismal development	cilium|mitochondrion|nucleus	ATP binding|cyclin-dependent protein kinase activity			skin(1)	1						AAGCCTCCACCGTGTGGGAAC	0.592													T	90586220	C	T	90586220	3	4	364	1	0	0	0	0	1	0	0	0	3167	652	23	1	844	1	CDK20	9	90586220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271113	90586220	50627211	7309	30811											
SPIN1	10927	broad.mit.edu	37	chr9	91077536	91077536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacccagtggaaaggaaccgTtctggaccaggtgcctgtaa	11	8	12	10	1	1	0	0	0	1	0	1	3	1	3	4	4	3	2	4	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91077536T>C	ENST00000375859.3	+	4	505	c.227T>C	c.(226-228)gTt>gCt	p.V76A	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.V76A	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	76					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						AAAGGAACCGTTCTGGACCAG	0.458													C	91077536	T	C	91077536	3	2	364	1	0	0	0	0	1	0	0	0	15148	1725	60	3	237	3	SPIN1	9	91077536	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	491316	91077536	50135895	7310	30812											
SPIN1	10927	broad.mit.edu	37	chr9	91083495	91083495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgattacaaagaaggCgaccttcgcattatgcctga	13	11	9	8	2	0	4	0	2	0	2	1	5	0	4	2	1	2	1	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91083495C>T	ENST00000375859.3	+	5	842	c.564C>T	c.(562-564)ggC>ggT	p.G188G	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Silent_p.G188G	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	188					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ACAAAGAAGGCGACCTTCGCA	0.378													T	91083495	C	T	91083495	2	4	364	1	0	0	0	0	0	0	0	1	15148	755	27	1		1	SPIN1	9	91083495	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5959	91083495	50129936	7311	30813											
S1PR3	1903	broad.mit.edu	37	chr9	91616912	91616912	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcctcttcctcattgAtgtggcctgcagggtgcagg	5	13	11	12	0	3	1	2	1	1	0	5	1	5	1	3	3	2	2	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91616912A>G	ENST00000375846.3	+	1	5492	c.797A>G	c.(796-798)gAt>gGt	p.D266G	S1PR3_ENST00000358157.2_Missense_Mutation_p.D266G			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	266					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						TTCCTCATTGATGTGGCCTGC	0.587													G	91616912	A	G	91616912	3	3	364	1	0	0	0	0	1	0	0	0	13886	333	12	3	799	3	S1PR3	9	91616912	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	533417	91616912	49596519	7312	30814											
SECISBP2	79048	broad.mit.edu	37	chr9	91940432	91940432	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataactcttcatccatatgcCtattctccttatacccttga	10	16	2	13	0	3	1	1	1	2	0	5	1	4	1	4	0	3	0	4	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91940432C>A	ENST00000375807.3	+	3	344	c.273C>A	c.(271-273)gcC>gcA	p.A91A	SECISBP2_ENST00000470305.1_3'UTR|SECISBP2_ENST00000534113.2_Silent_p.A23A|SECISBP2_ENST00000339901.4_Intron	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	91					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						ATCCATATGCCTATTCTCCTT	0.398													A	91940432	C	A	91940432	2	1	364	1	0	0	0	0	0	0	0	1	14099	668	24	4		4	SECISBP2	9	91940432	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	323520	91940432	49272999	7313	30815											
SECISBP2	79048	broad.mit.edu	37	chr9	91963028	91963028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcaagagagaaagcagcGtctccaagaaaatgctgtga	16	5	12	8	2	1	4	0	1	1	3	2	5	1	4	1	1	3	3	1	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91963028G>A	ENST00000375807.3	+	12	1708	c.1637G>A	c.(1636-1638)cGt>cAt	p.R546H	SECISBP2_ENST00000534113.2_Missense_Mutation_p.R478H|SECISBP2_ENST00000339901.4_Missense_Mutation_p.R473H	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	546					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGAAAGCAGCGTCTCCAAGAA	0.393													A	91963028	G	A	91963028	3	1	364	1	0	0	0	0	1	0	0	0	14099	1145	40	1	1683	1	SECISBP2	9	91963028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22596	91963028	49250403	7314	30816											
SECISBP2	79048	broad.mit.edu	37	chr9	91964707	91964707	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggccagaggggatggaCgaactgatctccactccttc	10	7	13	11	1	1	2	0	1	1	1	4	6	2	4	3	4	1	0	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91964707C>T	ENST00000375807.3	+	13	1826	c.1755C>T	c.(1753-1755)gaC>gaT	p.D585D	SECISBP2_ENST00000534113.2_Silent_p.D517D|SECISBP2_ENST00000339901.4_Silent_p.D512D	NM_001282688.1|NM_001282690.1|NM_024077.3	NP_001269617.1|NP_001269619.1|NP_076982.3	Q96T21	SEBP2_HUMAN	SECIS binding protein 2	585					translation	nucleus	mRNA 3'-UTR binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(3)|skin(2)	32						AGGGGATGGACGAACTGATCT	0.567													T	91964707	C	T	91964707	2	4	364	1	0	0	0	0	0	0	0	1	14099	535	19	1		1	SECISBP2	9	91964707	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1679	91964707	49248724	7315	30817											
SEMA4D	10507	broad.mit.edu	37	chr9	91978850	91978850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcttctcccagacaaagCgaatgtctgcaggacctggg	10	9	10	12	1	3	1	0	0	3	1	4	3	3	2	2	2	2	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:91978850C>T	ENST00000420987.1	-	18	2344	c.1898G>A	c.(1897-1899)cGc>cAc	p.R633H	SEMA4D_ENST00000420101.2_Missense_Mutation_p.R18H|SEMA4D_ENST00000343780.4_Missense_Mutation_p.R633H|SEMA4D_ENST00000469653.1_5'UTR|SEMA4D_ENST00000455551.2_Missense_Mutation_p.R633H|SEMA4D_ENST00000339861.4_Missense_Mutation_p.R633H	NM_001142287.1	NP_001135759.1	Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	0	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						CCAGACAAAGCGAATGTCTGC	0.597													T	91978850	C	T	91978850	3	4	364	1	0	0	0	0	1	0	0	0	14127	768	27	1	330	1	SEMA4D	9	91978850	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14143	91978850	49234581	7316	30818											
SEMA4D	10507	broad.mit.edu	37	chr9	92003880	92003880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacattgaagaccaagccgCtgtctggccgggagcagatg	10	6	14	11	2	1	3	0	1	1	2	1	4	1	4	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:92003880C>T	ENST00000450295.1	-	10	1633	c.857G>A	c.(856-858)aGc>aAc	p.S286N	SEMA4D_ENST00000422704.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000343780.4_Missense_Mutation_p.S286N|SEMA4D_ENST00000438547.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000420987.1_Missense_Mutation_p.S286N|SEMA4D_ENST00000356444.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000455551.2_Missense_Mutation_p.S286N|SEMA4D_ENST00000339861.4_Missense_Mutation_p.S286N			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	286	Sema.				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						GACCAAGCCGCTGTCTGGCCG	0.582													T	92003880	C	T	92003880	3	4	364	1	0	0	0	0	1	0	0	0	14127	797	28	2	2329	2	SEMA4D	9	92003880	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25030	92003880	49209551	7317	30819											
NFIL3	4783	broad.mit.edu	37	chr9	94172307	94172307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatggacgctgtgtaagagCctcggtcatctcttggctcc	7	11	12	11	2	2	2	1	0	1	2	5	3	3	3	2	3	1	3	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172307C>T	ENST00000297689.3	-	2	1104	c.710G>A	c.(709-711)gGc>gAc	p.G237D		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	237					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						TGTGTAAGAGCCTCGGTCATC	0.488													T	94172307	C	T	94172307	3	4	364	1	0	0	0	0	1	0	0	0	10449	739	26	2	682	2	NFIL3	9	94172307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2168427	94172307	47041124	7318	30820											
NFIL3	4783	broad.mit.edu	37	chr9	94172623	94172623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcttgagcatatgctgTggagctaattaaaccaaact	14	12	7	8	0	1	1	0	1	1	0	2	2	1	2	1	1	5	3	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94172623T>C	ENST00000297689.3	-	2	788	c.394A>G	c.(394-396)Aca>Gca	p.T132A		NM_005384.2	NP_005375.2	Q16649	NFIL3_HUMAN	nuclear factor, interleukin 3 regulated	132					circadian rhythm|immune response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)	16						GCATATGCTGTGGAGCTAATT	0.378													C	94172623	T	C	94172623	3	2	364	1	0	0	0	0	1	0	0	0	10449	1696	59	3	998	3	NFIL3	9	94172623	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	316	94172623	47040808	7319	30821											
ROR2	4920	broad.mit.edu	37	chr9	94486137	94486137	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgtctgccatggatgtgTtggagggggccgtggtgacg	4	10	18	9	2	1	1	0	1	1	0	1	3	1	3	3	5	1	1	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94486137T>A	ENST00000375708.3	-	9	2837	c.2639A>T	c.(2638-2640)aAc>aTc	p.N880I	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	880	Ser/Thr-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CATGGATGTGTTGGAGGGGGC	0.652													A	94486137	T	A	94486137	3	1	364	1	0	0	0	0	1	0	0	0	13618	1725	60	5	196	5	ROR2	9	94486137	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	313514	94486137	46727294	7320	30822											
SPTLC1	10558	broad.mit.edu	37	chr9	94842325	94842325	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccataaaatcctctgggtcCacaagtccccacgccatact	11	8	6	16	1	1	0	0	0	1	0	4	0	4	0	6	1	1	0	6	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94842325C>A	ENST00000262554.2	-	5	405	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Nonsense_Mutation_p.G134*	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	134						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CCTCTGGGTCCACAAGTCCCC	0.358													A	94842325	C	A	94842325	4	1	364	1	0	0	0	0	0	1	0	0	15219	603	21	4	1074	4	SPTLC1	9	94842325	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	356188	94842325	46371106	7321	30823											
SPTLC1	10558	broad.mit.edu	37	chr9	94874736	94874736	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacagagatttaatttcgtaCcttgactgtaagatcagatc	14	13	7	7	1	1	4	1	1	0	3	3	5	1	4	1	0	2	2	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94874736C>T	ENST00000262554.2	-	2	171		c.e2+1		SPTLC1_ENST00000482632.1_Splice_Site|SPTLC1_ENST00000337841.4_Splice_Site	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1							integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TAATTTCGTACCTTGACTGTA	0.348													T	94874736	C	T	94874736	5	4	364	1	0	0	0	0	0	0	1	0	15219	521	18	2	1320	2	SPTLC1	9	94874736	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32411	94874736	46338695	7322	30824											
SPTLC1	10558	broad.mit.edu	37	chr9	94877622	94877622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagcgcctgtaccatctccaCcagaacccactgctccgtgg	9	7	8	17	2	1	1	0	0	1	1	3	1	2	1	6	1	4	2	6	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:94877622C>A	ENST00000262554.2	-	1	36	c.31G>T	c.(31-33)Gtg>Ttg	p.V11L	SPTLC1_ENST00000482632.1_5'UTR|SPTLC1_ENST00000337841.4_Missense_Mutation_p.V11L	NM_006415.2	NP_006406.1	O15269	SPTC1_HUMAN	serine palmitoyltransferase, long chain base subunit 1	11						integral to membrane|SPOTS complex	protein binding|pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14					L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	ACCATCTCCACCAGAACCCAC	0.657													A	94877622	C	A	94877622	3	1	364	1	0	0	0	0	1	0	0	0	15219	507	18	4	1459	4	SPTLC1	9	94877622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2886	94877622	46335809	7323	30825											
IARS	3376	broad.mit.edu	37	chr9	95033829	95033829	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaccttcacatactgtcCtgcgaaatctgtcacctccg	10	10	6	15	2	3	1	2	0	1	1	5	2	5	1	4	0	2	0	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95033829C>A	ENST00000375643.3	-	11	1365	c.1099G>T	c.(1099-1101)Gga>Tga	p.G367*	IARS_ENST00000375629.3_De_novo_Start_OutOfFrame|IARS_ENST00000443024.2_Nonsense_Mutation_p.G367*|IARS_ENST00000447699.2_Nonsense_Mutation_p.G257*	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	367					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	ACATACTGTCCTGCGAAATCT	0.418													A	95033829	C	A	95033829	4	1	364	1	0	0	0	0	0	1	0	0	7531	690	24	4	2785	4	IARS	9	95033829	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156207	95033829	46179602	7324	30826											
NOL8	55035	broad.mit.edu	37	chr9	95077759	95077759	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttttcatcgcaataattTcatctgtatctcctgagtca	9	19	4	9	1	5	1	3	1	2	0	7	1	5	1	1	0	0	2	1	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95077759T>C	ENST00000545558.1	-	7	1640	c.1148A>G	c.(1147-1149)gAa>gGa	p.E383G	NOL8_ENST00000358855.4_Missense_Mutation_p.E315G|NOL8_ENST00000442668.2_Missense_Mutation_p.E383G|NOL8_ENST00000535387.1_Missense_Mutation_p.E383G|NOL8_ENST00000542053.1_Missense_Mutation_p.E315G			Q76FK4	NOL8_HUMAN	nucleolar protein 8	383					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CGCAATAATTTCATCTGTATC	0.308													C	95077759	T	C	95077759	3	2	364	1	0	0	0	0	1	0	0	0	10603	1783	62	3	2399	3	NOL8	9	95077759	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43930	95077759	46135672	7325	30827											
OGN	4969	broad.mit.edu	37	chr9	95155416	95155416	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttaattttgttgaatcGtgcgtaaagataggctgatt	10	18	9	4	2	0	3	0	2	0	1	1	3	0	3	0	1	1	3	0	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95155416G>A	ENST00000262551.4	-	4	799	c.379C>T	c.(379-381)Cga>Tga	p.R127*	OGN_ENST00000468743.1_5'UTR|OGN_ENST00000375561.5_Nonsense_Mutation_p.R127*|CENPP_ENST00000375587.3_Intron	NM_033014.2	NP_148935.1	P20774	MIME_HUMAN	osteoglycin	127						extracellular space|proteinaceous extracellular matrix	growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	13						TTGTTGAATCGTGCGTAAAGA	0.358													A	95155416	G	A	95155416	4	1	364	1	0	0	0	0	0	1	0	0	10922	1153	40	1	533	1	OGN	9	95155416	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77657	95155416	46058015	7326	30828											
OMD	4958	broad.mit.edu	37	chr9	95179567	95179567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtagagttgctgaatgtGcatcggaatatttgggatag	12	12	14	3	1	0	2	0	1	0	1	1	4	0	4	0	3	2	4	0	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95179567G>A	ENST00000375550.4	-	2	549	c.274C>T	c.(274-276)Cac>Tac	p.H92Y	CENPP_ENST00000375587.3_Intron	NM_005014.2	NP_005005.1	Q99983	OMD_HUMAN	osteomodulin	92					cell adhesion	proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|skin(2)	16						TGCTGAATGTGCATCGGAATA	0.383			T	USP6	aneurysmal bone cysts								A	95179567	G	A	95179567	3	1	364	1	0	0	0	0	1	0	0	0	10941	1319	46	2	999	2	OMD	9	95179567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24151	95179567	46033864	7327	30829											
ASPN	54829	broad.mit.edu	37	chr9	95228754	95228754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagattaagtggtatttcacTtagttgattgtgggacagat	12	15	11	3	0	1	3	1	1	0	2	1	4	1	4	0	2	0	2	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95228754T>A	ENST00000375544.3	-	4	730	c.487A>T	c.(487-489)Agt>Tgt	p.S163C	ASPN_ENST00000375543.1_Missense_Mutation_p.S163C|ASPN_ENST00000395538.3_Missense_Mutation_p.S163C|CENPP_ENST00000375587.3_Intron	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	163					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						GGTATTTCACTTAGTTGATTG	0.373													A	95228754	T	A	95228754	3	1	364	1	0	0	0	0	1	0	0	0	1062	1609	56	5	675	5	ASPN	9	95228754	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49187	95228754	45984677	7328	30830											
ECM2	1842	broad.mit.edu	37	chr9	95263331	95263331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagagatcaatggattctaGatttctgcagcaaagaaaaa	17	9	10	5	0	3	3	1	0	2	3	3	6	3	5	0	2	2	2	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95263331G>A	ENST00000344604.5	-	9	1758	c.1609C>T	c.(1609-1611)Cta>Tta	p.L537L	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.L515L	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	537					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						ATGGATTCTAGATTTCTGCAG	0.448													A	95263331	G	A	95263331	2	1	364	1	0	0	0	0	0	0	0	1	4937	933	33	2		2	ECM2	9	95263331	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34577	95263331	45950100	7329	30831											
ECM2	1842	broad.mit.edu	37	chr9	95277058	95277058	+	Silent	SNP	T	T	C																															ggaggagcaggaagcggggaTcgagagggcattcggaacat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277058T>C	ENST00000344604.5	-	4	1058	c.909A>G	c.(907-909)cgA>cgG	p.R303R	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Silent_p.R281R	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GAAGCGGGGATCGAGAGGGCA	0.607													C	95277058	T	C	95277058	2	2	364	1	0	0	0	0	0	0	0	1	4937	1422	50	3		3	ECM2	9	95277058	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13727	95277058	45936373	7330	30832	74	2									
ECM2	1842	broad.mit.edu	37	chr9	95277059	95277059	+	Missense_Mutation	SNP	C	C	T																															gaggagcaggaagcggggatCgagagggcattcggaacata																								rs143789386	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95277059C>T	ENST00000344604.5	-	4	1057	c.908G>A	c.(907-909)cGa>cAa	p.R303Q	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R281Q	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	303					cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						AAGCGGGGATCGAGAGGGCAT	0.612													T	95277059	C	T	95277059	3	4	364	1	0	0	0	0	1	0	0	0	4937	884	31	1	1219	1	ECM2	9	95277059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	95277059	45936372	7331	30833	74	2									
IPPK	64768	broad.mit.edu	37	chr9	95400540	95400540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggggctccgggcatctttgCagccgtaaatcagctcacca	8	8	11	14	3	3	0	2	0	1	0	4	0	4	0	3	3	3	5	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95400540C>T	ENST00000287996.3	-	9	935	c.659G>A	c.(658-660)tGc>tAc	p.C220Y		NM_022755.5	NP_073592.1	Q9H8X2	IPPK_HUMAN	inositol 1,3,4,5,6-pentakisphosphate 2-kinase	220					inositol or phosphatidylinositol phosphorylation	cytoplasm|nucleus	ATP binding|inositol pentakisphosphate 2-kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(2)|urinary_tract(1)	15						GGCATCTTTGCAGCCGTAAAT	0.567													T	95400540	C	T	95400540	3	4	364	1	0	0	0	0	1	0	0	0	7859	710	25	2	836	2	IPPK	9	95400540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123481	95400540	45812891	7332	30834											
BICD2	23299	broad.mit.edu	37	chr9	95481452	95481452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcgcggtcctggcggCtggccttctctagcagggag	4	8	16	13	3	1	0	0	0	1	0	4	1	2	1	2	5	2	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481452C>T	ENST00000356884.6	-	5	1542	c.1475G>A	c.(1474-1476)aGc>aAc	p.S492N	BICD2_ENST00000375512.3_Missense_Mutation_p.S492N	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	492					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						GTCCTGGCGGCTGGCCTTCTC	0.672													T	95481452	C	T	95481452	3	4	364	1	0	0	0	0	1	0	0	0	1435	797	28	2	1114	2	BICD2	9	95481452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80912	95481452	45731979	7333	30835											
BICD2	23299	broad.mit.edu	37	chr9	95481641	95481641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagatctcaggcccgttgAtgtccacctcgtagtagtcc	8	10	9	14	2	1	2	1	1	1	1	5	2	3	2	5	1	0	3	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95481641A>G	ENST00000356884.6	-	5	1353	c.1286T>C	c.(1285-1287)aTc>aCc	p.I429T	BICD2_ENST00000375512.3_Missense_Mutation_p.I429T	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	429					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						AGGCCCGTTGATGTCCACCTC	0.647													G	95481641	A	G	95481641	3	3	364	1	0	0	0	0	1	0	0	0	1435	333	12	3	1303	3	BICD2	9	95481641	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189	95481641	45731790	7334	30836											
BICD2	23299	broad.mit.edu	37	chr9	95482688	95482688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggccctccttcttgggcGtggaggtcttgttgtccagt	3	13	14	11	2	2	0	0	0	2	0	4	2	4	1	3	4	0	1	3	4	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95482688G>A	ENST00000356884.6	-	4	1023	c.956C>T	c.(955-957)aCg>aTg	p.T319M	BICD2_ENST00000375512.3_Missense_Mutation_p.T319M	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	319					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CTTCTTGGGCGTGGAGGTCTT	0.622													A	95482688	G	A	95482688	3	1	364	1	0	0	0	0	1	0	0	0	1435	1145	40	1	1637	1	BICD2	9	95482688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1047	95482688	45730743	7335	30837											
FGD3	89846	broad.mit.edu	37	chr9	95796895	95796895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagagagcggtgagaccTggagcgaggtgtgggccgcc	7	6	19	9	3	1	2	1	1	0	2	1	6	1	3	3	4	2	0	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95796895T>C	ENST00000375482.3	+	17	2354	c.1858T>C	c.(1858-1860)Tgg>Cgg	p.W620R	FGD3_ENST00000538555.1_Missense_Mutation_p.W223R|FGD3_ENST00000337352.6_Missense_Mutation_p.W620R|FGD3_ENST00000416701.2_Missense_Mutation_p.W619R	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	620	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						CGGTGAGACCTGGAGCGAGGT	0.677													C	95796895	T	C	95796895	3	2	364	1	0	0	0	0	1	0	0	0	5883	1580	55	3	1916	3	FGD3	9	95796895	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	314207	95796895	45416536	7336	30838											
NINJ1	4814	broad.mit.edu	37	chr9	95888857	95888857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccagcatgctctcggctgCgctcttcttgctggcgtaat	4	13	11	13	3	3	0	0	0	3	0	5	0	4	0	1	2	4	6	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:95888857C>T	ENST00000375446.4	-	2	209	c.139G>A	c.(139-141)Gca>Aca	p.A47T		NM_004148.3	NP_004139.2	Q92982	NINJ1_HUMAN	ninjurin 1	47					cell adhesion|nervous system development|tissue regeneration	integral to membrane				kidney(1)|large_intestine(2)|upper_aerodigestive_tract(1)	4						CTCTCGGCTGCGCTCTTCTTG	0.667													T	95888857	C	T	95888857	3	4	364	1	0	0	0	0	1	0	0	0	10494	768	27	1	327	1	NINJ1	9	95888857	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91962	95888857	45324574	7337	30839											
WNK2	65268	broad.mit.edu	37	chr9	96051595	96051595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctcccaagcccacccctggGgcccaccgtccccccacagc	6	3	8	24	1	0	0	0	0	0	0	2	0	2	0	9	2	2	1	9	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96051595G>A	ENST00000297954.4	+	20	4670	c.4670G>A	c.(4669-4671)gGg>gAg	p.G1557E	WNK2_ENST00000395477.2_Missense_Mutation_p.G1520E|WNK2_ENST00000427277.2_Missense_Mutation_p.G1132E|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.G1169E	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1557					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCACCCCTGGGGCCCACCGTC	0.721													A	96051595	G	A	96051595	3	1	364	1	0	0	0	0	1	0	0	0	17480	1232	43	2	4633	2	WNK2	9	96051595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162738	96051595	45161836	7338	30840											
FAM120A	23196	broad.mit.edu	37	chr9	96214350	96214350	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctggtggacgccgaCaactgcctgcaccgcctcta	6	7	11	17	4	1	0	0	0	1	0	1	2	1	1	5	2	4	2	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96214350C>T	ENST00000277165.6	+	1	347	c.153C>T	c.(151-153)gaC>gaT	p.D51D	FAM120A_ENST00000333936.5_Silent_p.D51D|FAM120A_ENST00000340893.4_Silent_p.D51D|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000375389.3_Silent_p.D51D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	51						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGACGCCGACAACTGCCTGC	0.731													T	96214350	C	T	96214350	2	4	364	1	0	0	0	0	0	0	0	1	5460	477	17	2		2	FAM120A	9	96214350	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162755	96214350	44999081	7339	30841											
FAM120A	23196	broad.mit.edu	37	chr9	96305688	96305688	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgcatgaggtcggaCaccccagccatgctcaaccc	8	6	10	17	1	1	1	1	1	0	0	2	2	1	2	5	3	4	2	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96305688C>T	ENST00000277165.6	+	11	2288	c.2094C>T	c.(2092-2094)gaC>gaT	p.D698D	FAM120A_ENST00000333936.5_Silent_p.D726D|FAM120A_ENST00000340893.4_Silent_p.D698D	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	698						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGAGGTCGGACACCCCAGCCA	0.632													T	96305688	C	T	96305688	2	4	364	1	0	0	0	0	0	0	0	1	5460	477	17	2		2	FAM120A	9	96305688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91338	96305688	44907743	7340	30842											
PHF2	5253	broad.mit.edu	37	chr9	96339133	96339133	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatcgagtgcgacgcctgCaaggactggttccacggcag	9	7	14	11	4	0	1	0	1	0	0	2	4	1	2	2	3	2	3	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96339133C>T	ENST00000359246.4	+	1	445	c.78C>T	c.(76-78)tgC>tgT	p.C26C	PHF2_ENST00000375376.4_Silent_p.C26C	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	26				FMIECDACKDWFHGSCVGVEEEE -> PRAARPPARPGPTR AAQRRGRAT (in Ref. 2; BAA31637).	liver development|negative regulation of chromatin silencing at rDNA|transcription, DNA-dependent	nucleolus	histone demethylase activity (H3-K9 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		GCGACGCCTGCAAGGACTGGT	0.756													T	96339133	C	T	96339133	2	4	364	1	0	0	0	0	0	0	0	1	11907	718	25	2		2	PHF2	9	96339133	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33445	96339133	44874298	7341	30843											
PTPDC1	138639	broad.mit.edu	37	chr9	96847558	96847558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagaacgtccaacaccaaaGtacacaaaagtaggggagcg	17	5	10	9	2	0	1	0	0	0	1	1	2	1	2	2	2	4	2	2	2	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847558G>T	ENST00000375360.3	+	3	448	c.108G>T	c.(106-108)aaG>aaT	p.K36N	PTPDC1_ENST00000288976.3_Missense_Mutation_p.K88N	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	36							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						CAACACCAAAGTACACAAAAG	0.433													T	96847558	G	T	96847558	3	4	364	1	0	0	0	0	1	0	0	0	12859	1020	36	4	356	4	PTPDC1	9	96847558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508425	96847558	44365873	7342	30844											
PTPDC1	138639	broad.mit.edu	37	chr9	96847695	96847695	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagccattaagggggtttActcatcctggtgagtgatcc	9	11	12	9	0	1	2	1	2	0	0	3	2	3	2	3	3	2	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:96847695A>G	ENST00000375360.3	+	3	585	c.245A>G	c.(244-246)tAc>tGc	p.Y82C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.Y134C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	82							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AAGGGGGTTTACTCATCCTGG	0.547													G	96847695	A	G	96847695	3	3	364	1	0	0	0	0	1	0	0	0	12859	391	14	3	493	3	PTPDC1	9	96847695	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	137	96847695	44365736	7343	30845											
ZNF169	169841	broad.mit.edu	37	chr9	97062159	97062159	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttctagctcgcagctcCtcagacaatatgcgctaagt	9	12	7	13	2	2	1	1	0	1	1	4	1	3	1	2	0	3	4	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97062159C>A	ENST00000395395.2	+	5	409	c.319C>A	c.(319-321)Ctc>Atc	p.L107I	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	107						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				CTCGCAGCTCCTCAGACAATA	0.498													A	97062159	C	A	97062159	3	1	364	1	0	0	0	0	1	0	0	0	17843	681	24	4	333	4	ZNF169	9	97062159	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214464	97062159	44151272	7344	30846											
FBP1	2203	broad.mit.edu	37	chr9	97380054	97380054	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatcacgttttacctttCtatagatgccaaaaatggtt	13	15	6	7	1	2	2	1	0	1	2	2	2	2	2	2	1	2	2	2	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97380054C>A	ENST00000415431.1	-	4	651	c.422G>T	c.(421-423)aGa>aTa	p.R141I	FBP1_ENST00000375326.4_Missense_Mutation_p.R141I	NM_001127628.1	NP_001121100.1	P09467	F16P1_HUMAN	fructose-1,6-bisphosphatase 1	141					gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding|metal ion binding			kidney(1)|liver(1)|lung(1)	3		Acute lymphoblastic leukemia(62;0.136)			Adenosine monophosphate(DB00131)	TTTTACCTTTCTATAGATGCC	0.443													A	97380054	C	A	97380054	3	1	364	1	0	0	0	0	1	0	0	0	5754	913	32	4	614	4	FBP1	9	97380054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	317895	97380054	43833377	7345	30847											
C9orf3	84909	broad.mit.edu	37	chr9	97522193	97522193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaagtcattgaggggaccaTagtgcttttcctcgaggatg	9	12	12	8	1	2	1	2	1	0	0	4	4	3	3	2	3	1	1	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97522193T>C	ENST00000375315.2	+	1	128	c.128T>C	c.(127-129)aTa>aCa	p.I43T	C9orf3_ENST00000277198.2_Missense_Mutation_p.I43T|C9orf3_ENST00000297979.5_Missense_Mutation_p.I43T	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	43					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GAGGGGACCATAGTGCTTTTC	0.443													C	97522193	T	C	97522193	3	2	364	1	0	0	0	0	1	0	0	0	2503	1406	49	3	130	3	C9orf3	9	97522193	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	142139	97522193	43691238	7346	30848											
C9orf3	84909	broad.mit.edu	37	chr9	97563235	97563235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacacccgttctctcggCtggatgttctcatcgtccct	5	12	9	15	3	2	0	1	0	2	0	7	2	3	1	2	2	1	4	2	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:97563235C>T	ENST00000375315.2	+	4	1315	c.1315C>T	c.(1315-1317)Ctg>Ttg	p.L439L	C9orf3_ENST00000277198.2_Silent_p.L439L|C9orf3_ENST00000395357.2_Silent_p.L59L|C9orf3_ENST00000297979.5_Silent_p.L439L	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	439					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		GTTCTCTCGGCTGGATGTTCT	0.537													T	97563235	C	T	97563235	2	4	364	1	0	0	0	0	0	0	0	1	2503	796	28	2		2	C9orf3	9	97563235	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41042	97563235	43650196	7347	30849											
PTCH1	5727	broad.mit.edu	37	chr9	98212155	98212155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagaaagacaaaagcaCgggaagcaaaaccagcccat	20	2	8	11	1	0	2	0	0	0	2	1	3	1	3	3	1	4	2	3	1	7	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98212155C>T	ENST00000430669.2	-	21	3904	c.3319G>A	c.(3319-3321)Gtg>Atg	p.V1107M	PTCH1_ENST00000375274.2_Missense_Mutation_p.V1172M|PTCH1_ENST00000331920.6_Missense_Mutation_p.V1173M|PTCH1_ENST00000421141.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000437951.1_Missense_Mutation_p.V1107M|PTCH1_ENST00000418258.1_Missense_Mutation_p.V1022M|PTCH1_ENST00000429896.2_Missense_Mutation_p.V1022M			Q13635	PTC1_HUMAN	patched 1	1173					embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	p.L1170_P1180>WT(1)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				GACAAAAGCACGGGAAGCAAA	0.542													T	98212155	C	T	98212155	3	4	364	1	0	0	0	0	1	0	0	0	12815	536	19	1	838	1	PTCH1	9	98212155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	648920	98212155	43001276	7348	30850											
PTCH1	5727	broad.mit.edu	37	chr9	98239054	98239054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcattacctcaaaagggattCttttattctgtcctgtttca	9	17	6	9	0	4	0	2	0	2	0	5	1	5	1	2	1	1	2	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:98239054C>T	ENST00000430669.2	-	11	1976	c.1391G>A	c.(1390-1392)aGa>aAa	p.R464K	PTCH1_ENST00000375274.2_Missense_Mutation_p.R529K|PTCH1_ENST00000331920.6_Missense_Mutation_p.R530K|PTCH1_ENST00000421141.1_Missense_Mutation_p.R379K|PTCH1_ENST00000437951.1_Missense_Mutation_p.R464K|PTCH1_ENST00000418258.1_Missense_Mutation_p.R379K|PTCH1_ENST00000429896.2_Missense_Mutation_p.R379K			Q13635	PTC1_HUMAN	patched 1	530	SSD.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				AAAAGGGATTCTTTTATTCTG	0.418													T	98239054	C	T	98239054	3	4	364	1	0	0	0	0	1	0	0	0	12815	913	32	2	2806	2	PTCH1	9	98239054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26899	98239054	42974377	7349	30851											
CDC14B	8555	broad.mit.edu	37	chr9	99272007	99272007	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttcttttagtaatgcCtgcactgccagaaatgttag	9	14	11	7	0	1	1	0	0	1	1	1	1	1	1	2	2	3	4	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99272007C>A	ENST00000375241.1	-	13	1859	c.1408G>T	c.(1408-1410)Ggc>Tgc	p.G470C	CDC14B_ENST00000375242.3_Missense_Mutation_p.G433C|CDC14B_ENST00000463569.1_Intron|CDC14B_ENST00000375240.3_Intron|CDC14B_ENST00000265659.2_Intron	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	470					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTAGTAATGCCTGCACTGCCA	0.358													A	99272007	C	A	99272007	3	1	364	1	0	0	0	0	1	0	0	0	3087	681	24	4	96	4	CDC14B	9	99272007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1032953	99272007	41941424	7350	30852											
CDC14B	8555	broad.mit.edu	37	chr9	99285544	99285544	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaaacggcttgattaccGgttcgggttcttgctgatct	8	13	11	9	3	2	3	0	2	2	1	3	3	2	3	1	3	3	4	1	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285544G>A	ENST00000375241.1	-	11	1695	c.1244C>T	c.(1243-1245)cCg>cTg	p.P415L	CDC14B_ENST00000375242.3_Splice_Site_p.P378L|CDC14B_ENST00000375236.1_Splice_Site_p.P415L|CDC14B_ENST00000463569.1_Splice_Site_p.P415L|CDC14B_ENST00000375240.3_Splice_Site_p.P415L|CDC14B_ENST00000265659.2_Splice_Site_p.P415L	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	415					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				CTTGATTACCGGTTCGGGTTC	0.443													A	99285544	G	A	99285544	5	1	364	1	0	0	0	0	0	0	1	0	3087	1130	39	1	268	1	CDC14B	9	99285544	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13537	99285544	41927887	7351	30853											
CDC14B	8555	broad.mit.edu	37	chr9	99285970	99285970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcctgtaatgcttcatgatGtagcaggctatcagagtgcc	10	12	10	9	0	2	2	2	1	0	1	3	2	3	2	2	1	3	5	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99285970G>A	ENST00000375241.1	-	10	1435	c.984C>T	c.(982-984)taC>taT	p.Y328Y	CDC14B_ENST00000375242.3_Silent_p.Y291Y|CDC14B_ENST00000375236.1_Silent_p.Y328Y|CDC14B_ENST00000463569.1_Silent_p.Y328Y|CDC14B_ENST00000375240.3_Silent_p.Y328Y|CDC14B_ENST00000265659.2_Silent_p.Y328Y	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	328	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTTCATGATGTAGCAGGCTA	0.517													A	99285970	G	A	99285970	2	1	364	1	0	0	0	0	0	0	0	1	3087	1372	48	2		2	CDC14B	9	99285970	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426	99285970	41927461	7352	30854											
ZNF510	22869	broad.mit.edu	37	chr9	99521449	99521449	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgagatgatcttttcGccagaaggatttttcacatt	11	16	8	6	1	2	4	1	3	1	2	3	6	2	5	1	1	0	0	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99521449G>A	ENST00000375231.1	-	6	2313	c.1663C>T	c.(1663-1665)Cga>Tga	p.R555*	ZNF510_ENST00000223428.4_Nonsense_Mutation_p.R555*			Q9Y2H8	ZN510_HUMAN	zinc finger protein 510	555					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|stomach(1)|urinary_tract(1)	21		Acute lymphoblastic leukemia(62;0.0527)				TGATCTTTTCGCCAGAAGGAT	0.413													A	99521449	G	A	99521449	4	1	364	1	0	0	0	0	0	1	0	0	18055	1095	38	1	392	1	ZNF510	9	99521449	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235479	99521449	41691982	7353	30855											
ZNF782	158431	broad.mit.edu	37	chr9	99581278	99581278	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctgaatgtctctgtacAtgggtgataatcagagtatt	11	14	11	5	0	2	3	1	2	1	1	3	3	2	3	0	1	2	4	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581278A>G	ENST00000481138.1	-	6	1688	c.1027T>C	c.(1027-1029)Tgt>Cgt	p.C343R	ZNF782_ENST00000535338.1_Missense_Mutation_p.C211R	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	343					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GTCTCTGTACATGGGTGATAA	0.408													G	99581278	A	G	99581278	3	3	364	1	0	0	0	0	1	0	0	0	18254	217	8	3	1076	3	ZNF782	9	99581278	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	59829	99581278	41632153	7354	30856											
ZNF782	158431	broad.mit.edu	37	chr9	99581760	99581760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgaaagatttctcttgaGtgttagttctgccatcctta	10	15	8	8	1	2	2	0	1	2	1	4	3	3	2	2	0	2	2	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:99581760G>T	ENST00000481138.1	-	6	1206	c.545C>A	c.(544-546)aCt>aAt	p.T182N	ZNF782_ENST00000466833.1_5'UTR|ZNF782_ENST00000535338.1_Missense_Mutation_p.T50N	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	182					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				TTTCTCTTGAGTGTTAGTTCT	0.398													T	99581760	G	T	99581760	3	4	364	1	0	0	0	0	1	0	0	0	18254	1029	36	4	1558	4	ZNF782	9	99581760	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	482	99581760	41631671	7355	30857											
TDRD7	23424	broad.mit.edu	37	chr9	100193223	100193223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaatgaatagattacctgCtatgccatggcctgcacaga	12	11	8	10	0	1	3	0	1	1	2	1	3	1	3	3	1	4	2	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100193223C>T	ENST00000355295.4	+	3	511	c.216C>T	c.(214-216)tgC>tgT	p.C72C	TDRD7_ENST00000422139.2_5'UTR	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	72	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AGATTACCTGCTATGCCATGG	0.448													T	100193223	C	T	100193223	2	4	364	1	0	0	0	0	0	0	0	1	15835	805	28	2		2	TDRD7	9	100193223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	611463	100193223	41020208	7356	30858											
TDRD7	23424	broad.mit.edu	37	chr9	100204072	100204072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcatttggatatctaagcTtccacatttttacaaagagt	12	15	7	7	0	1	1	0	0	1	1	2	2	2	2	1	2	2	2	1	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100204072T>C	ENST00000355295.4	+	6	1065	c.770T>C	c.(769-771)cTt>cCt	p.L257P	TDRD7_ENST00000422139.2_Missense_Mutation_p.L183P	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	257	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ATATCTAAGCTTCCACATTTT	0.343													C	100204072	T	C	100204072	3	2	364	1	0	0	0	0	1	0	0	0	15835	1609	56	3	788	3	TDRD7	9	100204072	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10849	100204072	41009359	7357	30859											
TDRD7	23424	broad.mit.edu	37	chr9	100222971	100222971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacataacagttcctcCtttaatgattccaactgaag	13	11	8	9	0	0	2	0	2	0	0	3	4	3	4	3	2	2	1	3	2	4	5	rs17852595		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100222971C>A	ENST00000355295.4	+	7	1662	c.1367C>A	c.(1366-1368)cCt>cAt	p.P456H	TDRD7_ENST00000422139.2_Missense_Mutation_p.P382H	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	456			P -> L (in dbSNP:rs17852595).		lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				ACAGTTCCTCCTTTAATGATT	0.368													A	100222971	C	A	100222971	3	1	364	1	0	0	0	0	1	0	0	0	15835	681	24	4	1389	4	TDRD7	9	100222971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18899	100222971	40990460	7358	30860											
NCBP1	4686	broad.mit.edu	37	chr9	100407398	100407398	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaattgtttgccccaacaGgtccgttttttatctgatct	9	16	7	9	1	2	2	0	1	2	1	3	2	3	2	3	1	2	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100407398G>T	ENST00000375147.3	+	5	637		c.e5-1			NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa						gene silencing by RNA|histone mRNA metabolic process|mRNA 3'-end processing|mRNA capping|mRNA cleavage|mRNA export from nucleus|ncRNA metabolic process|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of mRNA 3'-end processing|positive regulation of viral transcription|regulation of translational initiation|spliceosomal snRNP assembly|termination of RNA polymerase II transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	cytosol|mRNA cap binding complex|nucleoplasm|ribonucleoprotein complex	protein binding|RNA cap binding			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TGCCCCAACAGGTCCGTTTTT	0.338													T	100407398	G	T	100407398	5	4	364	1	0	0	0	0	0	0	1	0	10287	1014	35	4	399	4	NCBP1	9	100407398	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184427	100407398	40806033	7359	30861											
FOXE1	2304	broad.mit.edu	37	chr9	100616505	100616505	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaacagcatccgccaCaacctcacactcaacgactg	13	5	7	16	2	2	1	2	0	0	1	3	2	3	1	3	1	4	2	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100616505C>T	ENST00000375123.3	+	1	970	c.309C>T	c.(307-309)caC>caT	p.H103H		NM_004473.3	NP_004464.2	O00358	FOXE1_HUMAN	forkhead box E1 (thyroid transcription factor 2)	103					cell migration|embryonic organ morphogenesis|hair follicle morphogenesis|hard palate development|lens morphogenesis in camera-type eye|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|peripheral nervous system development|pharynx development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|soft palate development|thymus development|thyroid gland development|thyroid hormone generation	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(62;0.158)				GCATCCGCCACAACCTCACAC	0.632													T	100616505	C	T	100616505	2	4	364	1	0	0	0	0	0	0	0	1	6054	477	17	2		2	FOXE1	9	100616505	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209107	100616505	40596926	7360	30862											
C9orf156	51531	broad.mit.edu	37	chr9	100667245	100667246	+	Frame_Shift_Ins	INS	-	-	A																															tttgcttcctctgctgactgINSaaaatatttaaatgacgcct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100667245_100667246insA	ENST00000375119.3	-	5	1171_1172	c.1095_1096insT	c.(1093-1098)tttcagfs	p.Q366fs		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	366					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				TCTGCTGACTGAAAATATTTAA	0.436													A	100667246	-	A	100667245	7	5	364	1	0	1	1	0	0	0	0	0	2491	1299	45	0	233	0	C9orf156	9	100667245	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	50740	100667245	40546186	7361	30863											
C9orf156	51531	broad.mit.edu	37	chr9	100672556	100672556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccaaaccaaaatccactGctatctccctgtgcatagga	13	10	5	13	0	1	0	0	0	1	0	4	1	3	1	4	1	3	2	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100672556G>A	ENST00000375119.3	-	4	828	c.752C>T	c.(751-753)gCa>gTa	p.A251V	C9orf156_ENST00000478126.1_5'UTR	NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	251					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAAATCCACTGCTATCTCCCT	0.443													A	100672556	G	A	100672556	3	1	364	1	0	0	0	0	1	0	0	0	2491	1319	46	2	581	2	C9orf156	9	100672556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5311	100672556	40540875	7362	30864											
HEMGN	55363	broad.mit.edu	37	chr9	100693430	100693430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaggctccaccttcaattCtgtgttttgttgtctctttc	4	19	7	11	0	3	1	1	1	2	0	6	1	4	1	2	1	0	3	2	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100693430C>T	ENST00000259456.3	-	4	390	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	83	Necessary for nuclear localization.				cell differentiation|multicellular organismal development					NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACCTTCAATTCTGTGTTTTGT	0.433													T	100693430	C	T	100693430	3	4	364	1	0	0	0	0	1	0	0	0	7105	922	32	2	1215	2	HEMGN	9	100693430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20874	100693430	40520001	7363	30865											
NANS	54187	broad.mit.edu	37	chr9	100843121	100843121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagaagctctttcctgaCattcccatagggtattctgg	9	14	8	10	0	3	2	1	1	2	1	5	2	5	2	2	2	1	2	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100843121C>T	ENST00000210444.5	+	5	697	c.627C>T	c.(625-627)gaC>gaT	p.D209D	TRIM14_ENST00000478530.1_Intron|TRIM14_ENST00000375098.3_Intron|NANS_ENST00000461452.1_3'UTR	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				TCTTTCCTGACATTCCCATAG	0.428													T	100843121	C	T	100843121	2	4	364	1	0	0	0	0	0	0	0	1	10231	477	17	2		2	NANS	9	100843121	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149691	100843121	40370310	7364	30866											
CORO2A	7464	broad.mit.edu	37	chr9	100897184	100897184	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccacgagttccttcctGtaggccgtgaggttcctggt	4	12	13	12	2	0	1	0	1	0	0	3	2	3	1	5	4	0	3	5	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100897184G>A	ENST00000343933.5	-	4	629	c.372C>T	c.(370-372)taC>taT	p.Y124Y	CORO2A_ENST00000375077.4_Silent_p.Y124Y	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	124					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				GTTCCTTCCTGTAGGCCGTGA	0.612													A	100897184	G	A	100897184	2	1	364	1	0	0	0	0	0	0	0	1	3787	1372	48	2		2	CORO2A	9	100897184	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54063	100897184	40316247	7365	30867											
TBC1D2	55357	broad.mit.edu	37	chr9	100961719	100961719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcggacacagctctgcGccgggatgcccgcctctcca	5	6	11	19	4	2	0	0	0	2	0	4	2	2	2	5	2	3	1	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961719G>A	ENST00000375066.5	-	13	2789	c.2698C>T	c.(2698-2700)Cgc>Tgc	p.R900C	TBC1D2_ENST00000375063.1_Missense_Mutation_p.R451C|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R693C	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	911						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		ACAGCTCTGCGCCGGGATGCC	0.692													A	100961719	G	A	100961719	3	1	364	1	0	0	0	0	1	0	0	0	15705	1087	38	1	59	1	TBC1D2	9	100961719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64535	100961719	40251712	7366	30868											
TBC1D2	55357	broad.mit.edu	37	chr9	100961731	100961731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctgcgccgggatgcccGcctctccaggtactctgcct	4	9	11	17	3	3	0	0	0	3	0	4	1	3	1	5	2	5	2	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100961731G>A	ENST00000375066.5	-	13	2777	c.2686C>T	c.(2686-2688)Cgg>Tgg	p.R896W	TBC1D2_ENST00000375063.1_Missense_Mutation_p.R447W|TBC1D2_ENST00000375064.1_3'UTR|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R689W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	907						cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CGGGATGCCCGCCTCTCCAGG	0.682													A	100961731	G	A	100961731	3	1	364	1	0	0	0	0	1	0	0	0	15705	1086	38	1	71	1	TBC1D2	9	100961731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	100961731	40251700	7367	30869											
TBC1D2	55357	broad.mit.edu	37	chr9	100983342	100983342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgcgccaggctctcccGctcctgctccagggcctcca	3	9	11	18	2	1	0	0	0	1	0	5	0	4	0	6	2	2	3	6	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:100983342G>A	ENST00000375066.5	-	6	1238	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	TBC1D2_ENST00000493589.2_Intron|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R383W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R165W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	383	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		AGGCTCTCCCGCTCCTGCTCC	0.687													A	100983342	G	A	100983342	3	1	364	1	0	0	0	0	1	0	0	0	15705	1086	38	1	1638	1	TBC1D2	9	100983342	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21611	100983342	40230089	7368	30870											
GABBR2	9568	broad.mit.edu	37	chr9	101068592	101068592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgagtgcggggatgctgacGttgcgggtctcccaagctaa	7	10	15	9	3	1	2	0	2	1	0	2	3	1	3	1	3	4	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101068592G>A	ENST00000259455.2	-	15	2499	c.2040C>T	c.(2038-2040)aaC>aaT	p.N680N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	680					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	GGATGCTGACGTTGCGGGTCT	0.547													A	101068592	G	A	101068592	2	1	364	1	0	0	0	0	0	0	0	1	6208	1136	40	1		1	GABBR2	9	101068592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85250	101068592	40144839	7369	30871											
ANKS6	203286	broad.mit.edu	37	chr9	101518861	101518861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtagtggaagttccagatgGaggccttttgctggtctcca	7	12	14	8	0	1	1	0	0	1	1	3	3	2	3	3	5	1	3	3	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101518861G>A	ENST00000353234.4	-	12	2214	c.2167C>T	c.(2167-2169)Cca>Tca	p.P723S	ANKS6_ENST00000540940.1_Missense_Mutation_p.P528S|ANKS6_ENST00000375018.1_Missense_Mutation_p.P724S|ANKS6_ENST00000375019.2_Missense_Mutation_p.P422S			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	723	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTTCCAGATGGAGGCCTTTTG	0.512													A	101518861	G	A	101518861	3	1	364	1	0	0	0	0	1	0	0	0	692	1174	41	2	464	2	ANKS6	9	101518861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450269	101518861	39694570	7370	30872											
ANKS6	203286	broad.mit.edu	37	chr9	101530377	101530377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcaccttgccaacaggagCgctgccacctgcaggggagg	10	4	14	13	1	0	0	0	0	0	0	0	2	0	2	4	4	6	3	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101530377C>T	ENST00000353234.4	-	11	2175	c.2128G>A	c.(2128-2130)Gct>Act	p.A710T	ANKS6_ENST00000540940.1_Missense_Mutation_p.A515T|ANKS6_ENST00000375018.1_Missense_Mutation_p.A710T|ANKS6_ENST00000375019.2_Missense_Mutation_p.A409T			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	710	Ser-rich.									endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				CCAACAGGAGCGCTGCCACCT	0.602													T	101530377	C	T	101530377	3	4	364	1	0	0	0	0	1	0	0	0	692	768	27	1	507	1	ANKS6	9	101530377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11516	101530377	39683054	7371	30873											
ANKS6	203286	broad.mit.edu	37	chr9	101536295	101536295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcaaaactggaagggggtAggaatggggggatgactgct	11	7	18	5	0	1	1	1	1	0	0	1	4	1	4	0	7	2	3	0	7	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101536295A>G	ENST00000353234.4	-	9	1732	c.1685T>C	c.(1684-1686)cTa>cCa	p.L562P	ANKS6_ENST00000540940.1_Missense_Mutation_p.L367P|ANKS6_ENST00000375018.1_Missense_Mutation_p.L562P|ANKS6_ENST00000375019.2_Missense_Mutation_p.L261P			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	562										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GGAAGGGGGTAGGAATGGGGG	0.592													G	101536295	A	G	101536295	3	3	364	1	0	0	0	0	1	0	0	0	692	420	15	3	958	3	ANKS6	9	101536295	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5918	101536295	39677136	7372	30874											
ANKS6	203286	broad.mit.edu	37	chr9	101552558	101552558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccagtgagtgcggccagCatcagcgggctccagcccac	7	4	13	17	3	1	1	1	1	0	0	2	1	2	1	4	2	4	2	4	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101552558C>T	ENST00000353234.4	-	2	737	c.690G>A	c.(688-690)atG>atA	p.M230I	ANKS6_ENST00000471846.1_5'UTR|ANKS6_ENST00000540940.1_Missense_Mutation_p.M35I|ANKS6_ENST00000375018.1_Missense_Mutation_p.M230I|ANKS6_ENST00000375019.2_Intron			Q68DC2	ANKS6_HUMAN	ankyrin repeat and sterile alpha motif domain containing 6	230										endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	21		Acute lymphoblastic leukemia(62;0.0527)				GTGCGGCCAGCATCAGCGGGC	0.697													T	101552558	C	T	101552558	3	4	364	1	0	0	0	0	1	0	0	0	692	710	25	2	1981	2	ANKS6	9	101552558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16263	101552558	39660873	7373	30875											
GALNT12	79695	broad.mit.edu	37	chr9	101599426	101599426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatcgcaacccccgtgcccGcttggtgagttcctcggccc	4	8	10	19	4	0	1	0	1	0	0	3	1	1	1	6	2	2	3	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101599426G>A	ENST00000375011.3	+	6	1208	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	403						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				CCCCGTGCCCGCTTGGTGAGT	0.532													A	101599426	G	A	101599426	3	1	364	1	0	0	0	0	1	0	0	0	6264	1087	38	1	1230	1	GALNT12	9	101599426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46868	101599426	39614005	7374	30876											
GALNT12	79695	broad.mit.edu	37	chr9	101611353	101611353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggatcatcagaaatggttCttcaaagagcgcatgttatg	12	12	10	7	2	4	2	3	0	1	2	5	3	4	3	0	2	1	3	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101611353C>A	ENST00000375011.3	+	10	1725	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	RP11-92C4.3_ENST00000589257.1_RNA|RP11-92C4.3_ENST00000433997.1_RNA|GALNT12_ENST00000470473.1_3'UTR	NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	575	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				AGAAATGGTTCTTCAAAGAGC	0.498											OREG0019361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	101611353	C	A	101611353	3	1	364	1	0	0	0	0	1	0	0	0	6264	912	32	4	1763	4	GALNT12	9	101611353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11927	101611353	39602078	7375	30877											
COL15A1	1306	broad.mit.edu	37	chr9	101748295	101748295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgaactgtgaggagcacagCcgcatccccttccagcggtc	8	7	12	14	2	0	2	0	2	0	0	3	3	2	3	4	2	4	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101748295C>T	ENST00000375001.3	+	3	972	c.549C>T	c.(547-549)agC>agT	p.S183S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	183	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGGAGCACAGCCGCATCCCCT	0.587													T	101748295	C	T	101748295	2	4	364	1	0	0	0	0	0	0	0	1	3703	738	26	2		2	COL15A1	9	101748295	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136942	101748295	39465136	7376	30878											
TGFBR1	7046	broad.mit.edu	37	chr9	101894964	101894964	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatcgcccttttatttcaGagggtactacgttgaaagac	11	13	9	8	2	1	4	1	1	0	3	2	4	1	4	1	1	2	2	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:101894964G>T	ENST00000374994.4	+	3	634	c.517G>T	c.(517-519)Gag>Tag	p.E173*	TGFBR1_ENST00000552516.1_Nonsense_Mutation_p.E177*|TGFBR1_ENST00000550253.1_Nonsense_Mutation_p.E104*|TGFBR1_ENST00000374990.2_Intron	NM_004612.2	NP_004603.1	P36897	TGFR1_HUMAN	transforming growth factor, beta receptor 1	173					activation of MAPKK activity|anterior/posterior pattern formation|artery morphogenesis|collagen fibril organization|embryonic cranial skeleton morphogenesis|germ cell migration|heart development|kidney development|neuron fate commitment|palate development|parathyroid gland development|pathway-restricted SMAD protein phosphorylation|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|pharyngeal system development|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of cellular component movement|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of SMAD protein import into nucleus|positive regulation of survival gene product expression|positive regulation of transcription, DNA-dependent|response to cholesterol|thymus development|transforming growth factor beta receptor signaling pathway		ATP binding|I-SMAD binding|metal ion binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type I|type II transforming growth factor beta receptor binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(1)	27		Acute lymphoblastic leukemia(62;0.0559)				TTTTATTTCAGAGGGTACTAC	0.398													T	101894964	G	T	101894964	4	4	364	1	0	0	0	0	0	1	0	0	15921	943	33	4	527	4	TGFBR1	9	101894964	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146669	101894964	39318467	7377	30879											
INVS	27130	broad.mit.edu	37	chr9	103027136	103027136	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattggtcctgcaacaaTggataccttgatgccattaa	11	13	8	9	0	0	1	0	1	0	0	1	2	1	2	3	2	5	2	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103027136T>C	ENST00000262457.2	+	11	1682	c.1497T>C	c.(1495-1497)aaT>aaC	p.N499N	INVS_ENST00000541287.1_Silent_p.N403N|INVS_ENST00000262456.2_Silent_p.N499N	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	499					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				CCTGCAACAATGGATACCTTG	0.343													C	103027136	T	C	103027136	2	2	364	1	0	0	0	0	0	0	0	1	7845	1461	51	3		3	INVS	9	103027136	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1132172	103027136	38186295	7378	30880											
INVS	27130	broad.mit.edu	37	chr9	103054731	103054731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtccagaggtgagacagctgGcgatgagcggtgtgcaaagg	10	6	18	7	2	0	3	0	2	0	2	1	5	1	3	1	4	3	2	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103054731G>A	ENST00000262457.2	+	14	2377	c.2192G>A	c.(2191-2193)gGc>gAc	p.G731D	INVS_ENST00000541287.1_Missense_Mutation_p.G635D|INVS_ENST00000262456.2_Intron	NM_014425.3	NP_055240.2	Q9Y283	INVS_HUMAN	inversin	731					negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|membrane|microtubule|nucleus|spindle	calmodulin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Acute lymphoblastic leukemia(62;0.056)				GAGACAGCTGGCGATGAGCGG	0.577													A	103054731	G	A	103054731	3	1	364	1	0	0	0	0	1	0	0	0	7845	1203	42	2	2242	2	INVS	9	103054731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27595	103054731	38158700	7379	30881											
TEX10	54881	broad.mit.edu	37	chr9	103092422	103092422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtaagagatgatctatgTtattggagagaactgtgcaa	14	12	11	4	0	2	3	1	1	1	2	2	6	2	4	0	1	2	3	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103092422T>C	ENST00000374902.4	-	6	1456	c.1280A>G	c.(1279-1281)aAc>aGc	p.N427S	TEX10_ENST00000535814.1_Missense_Mutation_p.N430S|TEX10_ENST00000537512.1_Missense_Mutation_p.N362S	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	427						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		ATGATCTATGTTATTGGAGAG	0.373													C	103092422	T	C	103092422	3	2	364	1	0	0	0	0	1	0	0	0	15872	1725	60	3	1549	3	TEX10	9	103092422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37691	103092422	38121009	7380	30882											
TEX10	54881	broad.mit.edu	37	chr9	103109222	103109222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgagaagtgagtctcCgattaggatttacagaaagt	13	12	11	5	1	1	3	0	2	1	2	2	6	1	4	1	1	2	1	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109222C>T	ENST00000374902.4	-	3	823	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	TEX10_ENST00000535814.1_Missense_Mutation_p.R219Q|TEX10_ENST00000537512.1_Missense_Mutation_p.R151Q	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	216						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		AGTGAGTCTCCGATTAGGATT	0.418													T	103109222	C	T	103109222	3	4	364	1	0	0	0	0	1	0	0	0	15872	652	23	1	2194	1	TEX10	9	103109222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16800	103109222	38104209	7381	30883											
TEX10	54881	broad.mit.edu	37	chr9	103109555	103109555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctttatctgtaaacacaGcagtcacttcacttaatatg	13	14	4	10	0	4	0	2	0	2	0	4	0	4	0	0	0	2	2	0	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103109555G>A	ENST00000374902.4	-	3	490	c.314C>T	c.(313-315)gCt>gTt	p.A105V	TEX10_ENST00000535814.1_Missense_Mutation_p.A108V|TEX10_ENST00000537512.1_Missense_Mutation_p.A40V	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	105						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAAACACAGCAGTCACTTC	0.368													A	103109555	G	A	103109555	3	1	364	1	0	0	0	0	1	0	0	0	15872	971	34	2	2527	2	TEX10	9	103109555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	333	103109555	38103876	7382	30884											
TEX10	54881	broad.mit.edu	37	chr9	103111563	103111563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaagtttgtaggagtaGcattttgtaacttgggcttc	9	18	10	4	0	0	0	0	0	0	0	1	1	0	1	0	2	2	6	0	2	5	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103111563G>A	ENST00000374902.4	-	2	259	c.83C>T	c.(82-84)gCt>gTt	p.A28V	TEX10_ENST00000535814.1_Missense_Mutation_p.A31V|TEX10_ENST00000537512.1_Intron	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	28						integral to membrane|MLL1 complex|nuclear membrane|nucleolus	binding			NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TGTAGGAGTAGCATTTTGTAA	0.318													A	103111563	G	A	103111563	3	1	364	1	0	0	0	0	1	0	0	0	15872	971	34	2	2762	2	TEX10	9	103111563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2008	103111563	38101868	7383	30885											
TMEFF1	8577	broad.mit.edu	37	chr9	103338803	103338803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttaatgcaacagaaaatGccccaaaaacaatagaggac	19	8	6	8	0	0	2	0	0	0	2	0	3	0	3	2	1	4	1	2	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:103338803G>A	ENST00000374879.4	+	10	1496	c.1064G>A	c.(1063-1065)tGc>tAc	p.C355Y	MSANTD3-TMEFF1_ENST00000502978.1_Missense_Mutation_p.M318I|TMEFF1_ENST00000334943.6_Missense_Mutation_p.C316Y	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				AACAGAAAATGCCCCAAAAAC	0.318													A	103338803	G	A	103338803	3	1	364	1	0	0	0	0	1	0	0	0	16113	1319	46	2	1102	2	TMEFF1	9	103338803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	227240	103338803	37874628	7384	30886											
ZNF189	7743	broad.mit.edu	37	chr9	104171082	104171082	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactggcgagaagcctttTctttgtattgagtgtggaaa	10	13	11	7	1	1	2	0	1	1	1	1	4	1	3	1	2	1	1	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104171082T>A	ENST00000374861.3	+	3	1274	c.990T>A	c.(988-990)ttT>ttA	p.F330L	ZNF189_ENST00000339664.2_Missense_Mutation_p.F344L|ZNF189_ENST00000259395.4_Missense_Mutation_p.F302L	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	344					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AGAAGCCTTTTCTTTGTATTG	0.418													A	104171082	T	A	104171082	3	1	364	1	0	0	0	0	1	0	0	0	17855	1780	62	5	1042	5	ZNF189	9	104171082	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	832279	104171082	37042349	7385	30887											
ALDOB	229	broad.mit.edu	37	chr9	104193166	104193166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggctggaaatcggtgggCcatggtgacaggtctggaaa	10	7	18	6	1	1	1	0	1	1	0	2	4	1	3	1	7	0	1	1	7	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104193166C>T	ENST00000374855.4	-	2	128	c.4G>A	c.(4-6)Gcc>Acc	p.A2T		NM_000035.3	NP_000026.2	P05062	ALDOB_HUMAN	aldolase B, fructose-bisphosphate	2					fructose 1,6-bisphosphate metabolic process|fructose catabolic process|gluconeogenesis|glycolysis|NADH oxidation|positive regulation of ATPase activity|vacuolar proton-transporting V-type ATPase complex assembly	centriolar satellite|cytosol	ATPase binding|cytoskeletal protein binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(5)|prostate(2)|skin(4)|urinary_tract(1)	24		Acute lymphoblastic leukemia(62;0.0559)				AATCGGTGGGCCATGGTGACA	0.547													T	104193166	C	T	104193166	3	4	364	1	0	0	0	0	1	0	0	0	508	739	26	2	1122	2	ALDOB	9	104193166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22084	104193166	37020265	7386	30888											
GRIN3A	116443	broad.mit.edu	37	chr9	104432710	104432710	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctccaatgggagctgctgTatctcgggtcctcactaaga	8	10	12	11	1	2	1	1	0	1	1	5	2	4	2	2	3	2	4	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:104432710T>C	ENST00000361820.3	-	3	2584	c.1984A>G	c.(1984-1986)Aca>Gca	p.T662A		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	662					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GGAGCTGCTGTATCTCGGGTC	0.522													C	104432710	T	C	104432710	3	2	364	1	0	0	0	0	1	0	0	0	6838	1638	57	3	1391	3	GRIN3A	9	104432710	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	239544	104432710	36780721	7387	30889											
SMC2	10592	broad.mit.edu	37	chr9	106877012	106877012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaattgtgtgaaaggaCttgtggcttctctgattagt	11	15	11	4	0	1	3	0	2	1	1	2	4	1	4	0	2	0	1	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106877012C>T	ENST00000286398.7	+	13	1861	c.1573C>T	c.(1573-1575)Ctt>Ttt	p.L525F	SMC2_ENST00000303219.8_Missense_Mutation_p.L525F|SMC2_ENST00000374793.3_Missense_Mutation_p.L525F|SMC2_ENST00000374787.3_Missense_Mutation_p.L525F	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	525	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						TGTGAAAGGACTTGTGGCTTC	0.353													T	106877012	C	T	106877012	3	4	364	1	0	0	0	0	1	0	0	0	14877	565	20	2	1619	2	SMC2	9	106877012	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2444302	106877012	34336419	7388	30890											
SMC2	10592	broad.mit.edu	37	chr9	106880543	106880543	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgtctttggaacaacatTtgtttgtgacaatatggata	11	17	9	4	0	1	1	0	1	1	0	1	3	1	3	0	2	2	2	0	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106880543T>G	ENST00000286398.7	+	15	2171	c.1883T>G	c.(1882-1884)tTt>tGt	p.F628C	SMC2_ENST00000303219.8_Missense_Mutation_p.F628C|SMC2_ENST00000374793.3_Missense_Mutation_p.F628C|SMC2_ENST00000374787.3_Missense_Mutation_p.F628C	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	628	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GGAACAACATTTGTTTGTGAC	0.418													G	106880543	T	G	106880543	3	3	364	1	0	0	0	0	1	0	0	0	14877	1841	64	5	1937	5	SMC2	9	106880543	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3531	106880543	34332888	7389	30891											
SMC2	10592	broad.mit.edu	37	chr9	106887381	106887381	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagaagatgaaagaaaaaCaacaggtaataacttctttt	20	9	7	5	0	1	4	0	1	1	3	1	4	1	4	0	1	3	2	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:106887381C>T	ENST00000286398.7	+	18	2734	c.2446C>T	c.(2446-2448)Caa>Taa	p.Q816*	SMC2_ENST00000303219.8_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374793.3_Nonsense_Mutation_p.Q816*|SMC2_ENST00000374787.3_Nonsense_Mutation_p.Q816*	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	816					cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAAAGAAAAACAACAGGTAAT	0.373													T	106887381	C	T	106887381	4	4	364	1	0	0	0	0	0	1	0	0	14877	479	17	2	2512	2	SMC2	9	106887381	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6838	106887381	34326050	7390	30892											
OR13F1	138805	broad.mit.edu	37	chr9	107267193	107267193	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctactcatttgtatctCttatgcatttatcctcgcca	9	17	4	11	1	2	0	1	0	1	0	5	0	3	0	2	0	3	3	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107267193C>A	ENST00000334726.2	+	1	739	c.650C>A	c.(649-651)tCt>tAt	p.S217Y		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATTTGTATCTCTTATGCATTT	0.458													A	107267193	C	A	107267193	3	1	364	1	0	0	0	0	1	0	0	0	11017	913	32	4	652	4	OR13F1	9	107267193	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	379812	107267193	33946238	7391	30893											
OR13C2	392376	broad.mit.edu	37	chr9	107367204	107367204	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaggtagaggaagctttGcttctcccctcggaagagct	10	9	12	10	1	1	2	0	0	1	2	3	5	1	4	2	3	4	4	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107367204G>A	ENST00000542196.1	-	1	747	c.705C>T	c.(703-705)agC>agT	p.S235S		NM_001004481.1	NP_001004481.1	Q8NGS9	O13C2_HUMAN	olfactory receptor, family 13, subfamily C, member 2	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						AGGAAGCTTTGCTTCTCCCCT	0.403													A	107367204	G	A	107367204	2	1	364	1	0	0	0	0	0	0	0	1	11010	1310	46	2		2	OR13C2	9	107367204	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100011	107367204	33846227	7392	30894											
OR13C9	286362	broad.mit.edu	37	chr9	107380071	107380071	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatgggtacataggcatTcttgctcatgatgatgggat	10	12	12	7	0	2	2	1	2	1	0	2	3	2	3	1	3	3	3	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107380071T>G	ENST00000259362.1	-	1	414	c.415A>C	c.(415-417)Aat>Cat	p.N139H		NM_001001956.1	NP_001001956.1	Q8NGT0	O13C9_HUMAN	olfactory receptor, family 13, subfamily C, member 9	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(9)|prostate(1)|skin(4)	22						ACATAGGCATTCTTGCTCATG	0.488													G	107380071	T	G	107380071	3	3	364	1	0	0	0	0	1	0	0	0	11015	1783	62	5	544	5	OR13C9	9	107380071	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12867	107380071	33833360	7393	30895											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107528737	107528737	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacattcatcttcggacCtcttactctgaattggttgg	11	14	7	9	1	4	1	1	1	3	0	5	2	4	2	1	3	2	1	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107528737C>A	ENST00000374762.3	+	2	263	c.192C>A	c.(190-192)acC>acA	p.T64T	NIPSNAP3B_ENST00000461177.1_Intron	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	64										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						ATCTTCGGACCTCTTACTCTG	0.343													A	107528737	C	A	107528737	2	1	364	1	0	0	0	0	0	0	0	1	10507	668	24	4		4	NIPSNAP3B	9	107528737	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148666	107528737	33684694	7394	30896											
ABCA1	19	broad.mit.edu	37	chr9	107555451	107555451	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggttctaagaaaaagctcaCctgggcctgatgaagaatct	13	9	11	8	0	3	4	1	2	2	2	3	4	3	4	2	2	1	2	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107555451C>A	ENST00000374736.3	-	41	6031		c.e41+1			NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1						Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAAAAGCTCACCTGGGCCTGA	0.532													A	107555451	C	A	107555451	5	1	364	1	0	0	0	0	0	0	1	0	28	521	18	4	1188	4	ABCA1	9	107555451	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26714	107555451	33657980	7395	30897											
ABCA1	19	broad.mit.edu	37	chr9	107581161	107581161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtagagagaataatggtgCggcctgccaggcacaaacac	13	6	13	9	1	0	2	0	0	0	2	0	3	0	2	2	3	3	2	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:107581161C>T	ENST00000374736.3	-	23	3639	c.3245G>A	c.(3244-3246)cGc>cAc	p.R1082H		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1082	ABC transporter 1.				Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AATAATGGTGCGGCCTGCCAG	0.547													T	107581161	C	T	107581161	3	4	364	1	0	0	0	0	1	0	0	0	28	768	27	1	3652	1	ABCA1	9	107581161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25710	107581161	33632270	7396	30898											
SLC44A1	23446	broad.mit.edu	37	chr9	108110667	108110667	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtagctacaacctaaaGccttctgaatacactacatc	14	11	4	12	0	1	1	0	1	1	0	2	1	1	1	2	0	6	2	2	0	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108110667G>T	ENST00000374720.3	+	5	682	c.435G>T	c.(433-435)aaG>aaT	p.K145N	SLC44A1_ENST00000374723.1_Missense_Mutation_p.K145N|SLC44A1_ENST00000374724.1_Missense_Mutation_p.K145N	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	145						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	ACAACCTAAAGCCTTCTGAAT	0.363													T	108110667	G	T	108110667	3	4	364	1	0	0	0	0	1	0	0	0	14729	962	34	4	453	4	SLC44A1	9	108110667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	529506	108110667	33102764	7397	30899											
SLC44A1	23446	broad.mit.edu	37	chr9	108120657	108120657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgatggtgataatcaggTatatatcaagagtacttgtg	12	16	10	3	0	2	3	2	2	0	1	2	3	2	3	0	2	1	2	0	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120657T>C	ENST00000374720.3	+	7	950	c.703T>C	c.(703-705)Tat>Cat	p.Y235H	SLC44A1_ENST00000374723.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000374724.1_Missense_Mutation_p.Y235H|SLC44A1_ENST00000343170.7_Missense_Mutation_p.Y27H	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	235						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GATAATCAGGTATATATCAAG	0.333													C	108120657	T	C	108120657	3	2	364	1	0	0	0	0	1	0	0	0	14729	1638	57	3	729	3	SLC44A1	9	108120657	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9990	108120657	33092774	7398	30900											
SLC44A1	23446	broad.mit.edu	37	chr9	108120689	108120689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacttgtgtggatcttaacGattctggtcatactcggttc	7	16	10	8	2	3	0	1	0	2	0	5	2	3	1	0	3	3	2	0	3	3	6	rs146574269		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108120689G>A	ENST00000374720.3	+	7	982	c.735G>A	c.(733-735)acG>acA	p.T245T	SLC44A1_ENST00000374723.1_Silent_p.T245T|SLC44A1_ENST00000374724.1_Silent_p.T245T|SLC44A1_ENST00000343170.7_Silent_p.T37T	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	245						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	GGATCTTAACGATTCTGGTCA	0.323													A	108120689	G	A	108120689	2	1	364	1	0	0	0	0	0	0	0	1	14729	1045	37	1		1	SLC44A1	9	108120689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	108120689	33092742	7399	30901											
SLC44A1	23446	broad.mit.edu	37	chr9	108126892	108126892	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaaatttctgggcctctgCagtacatgtggtggtaccat	9	13	10	9	0	3	0	1	0	2	0	3	0	3	0	2	3	3	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108126892C>T	ENST00000374720.3	+	10	1391	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	SLC44A1_ENST00000374723.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000374724.1_Nonsense_Mutation_p.Q382*|SLC44A1_ENST00000343170.7_Nonsense_Mutation_p.Q174*	NM_080546.3	NP_536856.2	Q8WWI5	CTL1_HUMAN	solute carrier family 44 (choline transporter), member 1	382						integral to membrane|mitochondrial outer membrane|plasma membrane	choline transmembrane transporter activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	38					Choline(DB00122)	TGGGCCTCTGCAGTACATGTG	0.443													T	108126892	C	T	108126892	4	4	364	1	0	0	0	0	0	1	0	0	14729	711	25	2	1182	2	SLC44A1	9	108126892	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6203	108126892	33086539	7400	30902											
FKTN	2218	broad.mit.edu	37	chr9	108380347	108380347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcatttcaggatgcaggaCttccgctcaaacacaaattt	13	11	7	10	1	2	0	2	0	0	0	3	2	3	2	1	2	3	3	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108380347C>T	ENST00000223528.2	+	8	1142	c.1018C>T	c.(1018-1020)Ctt>Ttt	p.L340F	FKTN_ENST00000357998.5_Missense_Mutation_p.L340F|FKTN_ENST00000602661.1_Missense_Mutation_p.L340F|FKTN_ENST00000448551.2_Missense_Mutation_p.L340F|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	340					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GGATGCAGGACTTCCGCTCAA	0.333													T	108380347	C	T	108380347	3	4	364	1	0	0	0	0	1	0	0	0	5968	565	20	2	1044	2	FKTN	9	108380347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	253455	108380347	32833084	7401	30903											
FKTN	2218	broad.mit.edu	37	chr9	108382276	108382276	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaaacttgatgttttttTcttctatgaagaaactgatc	12	18	6	5	0	2	4	0	3	2	1	3	4	2	4	0	0	2	2	0	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108382276T>A	ENST00000223528.2	+	9	1230	c.1106T>A	c.(1105-1107)tTc>tAc	p.F369Y	FKTN_ENST00000357998.5_Missense_Mutation_p.F369Y|FKTN_ENST00000602661.1_Missense_Mutation_p.F369Y|FKTN_ENST00000448551.2_Missense_Mutation_p.F369Y|FKTN_ENST00000540160.1_Intron	NM_006731.2	NP_006722.2	O75072	FKTN_HUMAN	fukutin	369					muscle organ development|negative regulation of cell proliferation|negative regulation of JNK cascade|nervous system development|regulation of protein glycosylation	cis-Golgi network|endoplasmic reticulum|extracellular space|Golgi membrane|integral to membrane|nucleus	transferase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	25						GATGTTTTTTTCTTCTATGAA	0.353													A	108382276	T	A	108382276	3	1	364	1	0	0	0	0	1	0	0	0	5968	1783	62	5	1136	5	FKTN	9	108382276	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1929	108382276	32831155	7402	30904											
TMEM38B	55151	broad.mit.edu	37	chr9	108483913	108483913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaatgaaggaagtgaccaGaacttggaaaatagtaggtg	16	7	15	3	0	0	3	0	2	0	1	0	6	0	6	1	4	1	1	1	4	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108483913G>A	ENST00000374688.1	+	3	913	c.203G>A	c.(202-204)aGa>aAa	p.R68K	TMEM38B_ENST00000374692.3_Missense_Mutation_p.R122K			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	122						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAAGTGACCAGAACTTGGAAA	0.418													A	108483913	G	A	108483913	3	1	364	1	0	0	0	0	1	0	0	0	16260	942	33	2	375	2	TMEM38B	9	108483913	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101637	108483913	32729518	7403	30905											
TMEM38B	55151	broad.mit.edu	37	chr9	108536258	108536258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcatgtgagaagaaaaGtgaagcaaagtcaccttcca	16	9	8	8	0	3	3	3	2	0	2	4	4	4	3	2	0	1	1	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:108536258G>T	ENST00000374688.1	+	6	1321	c.611G>T	c.(610-612)aGt>aTt	p.S204I	TMEM38B_ENST00000374692.3_Missense_Mutation_p.S258I			Q9NVV0	TM38B_HUMAN	transmembrane protein 38B	258						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13						GAGAAGAAAAGTGAAGCAAAG	0.413													T	108536258	G	T	108536258	3	4	364	1	0	0	0	0	1	0	0	0	16260	1029	36	4	795	4	TMEM38B	9	108536258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52345	108536258	32677173	7404	30906											
ZNF462	58499	broad.mit.edu	37	chr9	109686747	109686747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcatcagaagatgtatcAcaaaaacaatttgaaggaga	20	8	8	5	0	2	4	2	1	0	3	2	5	2	4	0	1	2	2	0	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109686747A>G	ENST00000277225.5	+	3	843	c.554A>G	c.(553-555)cAc>cGc	p.H185R	ZNF462_ENST00000457913.1_Missense_Mutation_p.H185R			Q96JM2	ZN462_HUMAN	zinc finger protein 462	185					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAGATGTATCACAAAAACAAT	0.488													G	109686747	A	G	109686747	3	3	364	1	0	0	0	0	1	0	0	0	18027	159	6	3	560	3	ZNF462	9	109686747	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1150489	109686747	31526684	7405	30907											
ZNF462	58499	broad.mit.edu	37	chr9	109687614	109687614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtctacaaatgtgacgAatgtccgtttacttgcaaga	12	12	9	8	2	1	2	0	1	1	1	2	3	2	2	1	0	4	3	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109687614A>G	ENST00000277225.5	+	3	1710	c.1421A>G	c.(1420-1422)gAa>gGa	p.E474G	ZNF462_ENST00000457913.1_Missense_Mutation_p.E474G			Q96JM2	ZN462_HUMAN	zinc finger protein 462	474					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AAATGTGACGAATGTCCGTTT	0.468													G	109687614	A	G	109687614	3	3	364	1	0	0	0	0	1	0	0	0	18027	246	9	3	1427	3	ZNF462	9	109687614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	867	109687614	31525817	7406	30908											
ZNF462	58499	broad.mit.edu	37	chr9	109689094	109689094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctatgtcgtggagcagcaGgaagggctgaatacagaatc	13	7	14	7	1	0	2	0	1	0	1	2	4	0	4	0	3	4	4	0	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689094G>T	ENST00000277225.5	+	3	3190	c.2901G>T	c.(2899-2901)caG>caT	p.Q967H	ZNF462_ENST00000457913.1_Missense_Mutation_p.Q967H			Q96JM2	ZN462_HUMAN	zinc finger protein 462	967					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TGGAGCAGCAGGAAGGGCTGA	0.512													T	109689094	G	T	109689094	3	4	364	1	0	0	0	0	1	0	0	0	18027	991	35	4	2907	4	ZNF462	9	109689094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1480	109689094	31524337	7407	30909											
ZNF462	58499	broad.mit.edu	37	chr9	109689801	109689801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgattatgggaaccGgacggtcaaaggggtactca	11	8	14	8	2	2	1	2	1	0	0	2	3	2	3	1	5	2	2	1	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109689801G>T	ENST00000277225.5	+	3	3897	c.3608G>T	c.(3607-3609)cGg>cTg	p.R1203L	ZNF462_ENST00000441147.2_Missense_Mutation_p.R48L|ZNF462_ENST00000457913.1_Missense_Mutation_p.R1203L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1203					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						TATGGGAACCGGACGGTCAAA	0.532													T	109689801	G	T	109689801	3	4	364	1	0	0	0	0	1	0	0	0	18027	1116	39	4	3614	4	ZNF462	9	109689801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	707	109689801	31523630	7408	30910											
ZNF462	58499	broad.mit.edu	37	chr9	109690567	109690567	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgagaaaagcctgcagctAgcttcagccaaccccgccat	11	6	8	16	1	1	1	1	1	0	1	1	2	1	1	6	0	6	3	6	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690567A>G	ENST00000277225.5	+	3	4663	c.4374A>G	c.(4372-4374)ctA>ctG	p.L1458L	ZNF462_ENST00000441147.2_Silent_p.L303L|ZNF462_ENST00000457913.1_Silent_p.L1458L			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1458					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						GCCTGCAGCTAGCTTCAGCCA	0.522													G	109690567	A	G	109690567	2	3	364	1	0	0	0	0	0	0	0	1	18027	407	15	3		3	ZNF462	9	109690567	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	766	109690567	31522864	7409	30911											
ZNF462	58499	broad.mit.edu	37	chr9	109690956	109690956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccgtacacacacggcaCtttggagaaactaaaaatcc	14	8	8	11	2	0	1	0	0	0	1	2	2	2	1	2	2	2	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:109690956C>T	ENST00000277225.5	+	3	5052	c.4763C>T	c.(4762-4764)aCt>aTt	p.T1588I	ZNF462_ENST00000441147.2_Missense_Mutation_p.T433I|ZNF462_ENST00000457913.1_Missense_Mutation_p.T1588I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ACACACGGCACTTTGGAGAAA	0.527													T	109690956	C	T	109690956	3	4	364	1	0	0	0	0	1	0	0	0	18027	565	20	2	4769	2	ZNF462	9	109690956	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389	109690956	31522475	7410	30912											
RAD23B	5887	broad.mit.edu	37	chr9	110086280	110086280	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacagcagataggtcgagaGaatcctcaattacttcaggt	13	10	9	9	1	2	2	2	0	0	2	4	4	3	2	1	2	3	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110086280G>T	ENST00000358015.3	+	8	1278	c.927G>T	c.(925-927)gaG>gaT	p.E309D	RAD23B_ENST00000416373.2_Missense_Mutation_p.E237D	NM_001244713.1|NM_002874.4	NP_001231642.1|NP_002865.1	P54727	RD23B_HUMAN	RAD23 homolog B (S. cerevisiae)	309	STI1.				nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleoplasm|proteasome complex|XPC complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			breast(3)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						TAGGTCGAGAGAATCCTCAAT	0.413								Direct reversal of damage;Nucleotide excision repair (NER)					T	110086280	G	T	110086280	3	4	364	1	0	0	0	0	1	0	0	0	13071	933	33	4	957	4	RAD23B	9	110086280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	395324	110086280	31127151	7411	30913											
KLF4	9314	broad.mit.edu	37	chr9	110250325	110250325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtggcggccactgactccGgaggatgggtcagcgaattg	7	7	17	10	4	1	1	1	1	0	0	2	4	2	3	2	6	1	0	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:110250325G>A	ENST00000374672.4	-	3	823	c.350C>T	c.(349-351)cCg>cTg	p.P117L		NM_004235.4	NP_004226.3	O43474	KLF4_HUMAN	Kruppel-like factor 4 (gut)	117					fat cell differentiation|mesodermal cell fate determination|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|stem cell maintenance|transcription from RNA polymerase II promoter	nucleus	RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor recruiting transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(5)|large_intestine(1)|lung(3)|pancreas(1)|prostate(2)	16						CACTGACTCCGGAGGATGGGT	0.647													A	110250325	G	A	110250325	3	1	364	1	0	0	0	0	1	0	0	0	8406	1116	39	1	1101	1	KLF4	9	110250325	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164045	110250325	30963106	7412	30914											
ACTL7B	10880	broad.mit.edu	37	chr9	111617534	111617534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtagttggtgaggtcacccCcagcgtagtcggcgcggctg	5	8	17	11	4	1	1	1	1	0	0	2	1	1	1	2	5	1	4	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617534C>T	ENST00000374667.3	-	1	1705	c.677G>A	c.(676-678)gGg>gAg	p.G226E		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	226						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAGGTCACCCCCAGCGTAGTC	0.647													T	111617534	C	T	111617534	3	4	364	1	0	0	0	0	1	0	0	0	201	623	22	2	574	2	ACTL7B	9	111617534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1367209	111617534	29595897	7413	30915											
ACTL7B	10880	broad.mit.edu	37	chr9	111617633	111617633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctctccaccaccagccccGaggtcttgccgtaggagtag	7	7	11	16	3	2	0	0	0	2	0	3	2	2	1	6	2	2	3	6	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111617633G>A	ENST00000374667.3	-	1	1606	c.578C>T	c.(577-579)tCg>tTg	p.S193L		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	193						actin cytoskeleton|cytoplasm	structural constituent of cytoskeleton			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CACCAGCCCCGAGGTCTTGCC	0.662													A	111617633	G	A	111617633	3	1	364	1	0	0	0	0	1	0	0	0	201	1059	37	1	673	1	ACTL7B	9	111617633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	111617633	29595798	7414	30916											
IKBKAP	8518	broad.mit.edu	37	chr9	111651668	111651668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttcctctgctcaaccaGctttcctgtagagacaataa	10	12	7	12	0	2	1	1	0	1	1	4	2	4	1	3	0	4	4	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111651668G>A	ENST00000374647.5	-	29	3473	c.3166C>T	c.(3166-3168)Ctg>Ttg	p.L1056L	IKBKAP_ENST00000537196.1_Silent_p.L707L|IKBKAP_ENST00000467959.1_5'UTR	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	1056					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCTCAACCAGCTTTCCTGTA	0.413													A	111651668	G	A	111651668	2	1	364	1	0	0	0	0	0	0	0	1	7668	962	34	2		2	IKBKAP	9	111651668	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34035	111651668	29561763	7415	30917											
IKBKAP	8518	broad.mit.edu	37	chr9	111674654	111674654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccctgacagagaacaTgcagccggtatggggtcaca	11	5	13	12	1	1	2	1	1	0	1	1	3	1	2	3	3	4	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111674654T>C	ENST00000374647.5	-	11	1386	c.1079A>G	c.(1078-1080)cAt>cGt	p.H360R	IKBKAP_ENST00000537196.1_Missense_Mutation_p.H11R	NM_003640.3	NP_003631.2	O95163	ELP1_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein	360					immune response|protein complex assembly|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|nucleolus|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding|signal transducer activity			NS(2)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ACAGAGAACATGCAGCCGGTA	0.512													C	111674654	T	C	111674654	3	2	364	1	0	0	0	0	1	0	0	0	7668	1464	51	3	3027	3	IKBKAP	9	111674654	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22986	111674654	29538777	7416	30918											
CTNNAL1	8727	broad.mit.edu	37	chr9	111732743	111732743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttatttccagaggttctGtcccagatatgtgtcgtaac	9	14	10	8	1	1	2	0	0	1	2	4	2	3	2	2	2	1	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111732743G>A	ENST00000374595.4	-	10	1458	c.1379C>T	c.(1378-1380)aCa>aTa	p.T460I	CTNNAL1_ENST00000325580.6_Intron|CTNNAL1_ENST00000325551.4_Missense_Mutation_p.T460I			Q9UBT7	CTNL1_HUMAN	catenin (cadherin-associated protein), alpha-like 1	460					cell adhesion|Rho protein signal transduction	actin cytoskeleton|cytosol|plasma membrane	cadherin binding|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(4)|urinary_tract(2)	25				STAD - Stomach adenocarcinoma(157;0.0768)		CAGAGGTTCTGTCCCAGATAT	0.398													A	111732743	G	A	111732743	3	1	364	1	0	0	0	0	1	0	0	0	4048	1377	48	2	865	2	CTNNAL1	9	111732743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58089	111732743	29480688	7417	30919											
EPB41L4B	54566	broad.mit.edu	37	chr9	111979388	111979388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatgccaaaaggcaaccGgtccgagctgctaagcactg	12	6	10	13	2	1	0	1	0	0	0	2	1	2	0	3	2	5	4	3	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:111979388G>A	ENST00000374566.3	-	16	1964	c.1447C>T	c.(1447-1449)Cgg>Tgg	p.R483W		NM_019114.3	NP_061987.3	Q9H329	E41LB_HUMAN	erythrocyte membrane protein band 4.1 like 4B	483						cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|structural constituent of cytoskeleton			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAAGGCAACCGGTCCGAGCTG	0.567													A	111979388	G	A	111979388	3	1	364	1	0	0	0	0	1	0	0	0	5197	1115	39	1	1299	1	EPB41L4B	9	111979388	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246645	111979388	29234043	7418	30920											
PTPN3	5774	broad.mit.edu	37	chr9	112166788	112166788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctgtgccatggatccCtccaaagtgtccccaccctc	7	11	7	16	0	0	0	0	0	0	0	4	1	3	1	6	1	2	1	6	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112166788C>A	ENST00000412145.1	-	14	4053	c.1500G>T	c.(1498-1500)gaG>gaT	p.E500D	PTPN3_ENST00000374541.2_Missense_Mutation_p.E631D|PTPN3_ENST00000394827.3_Missense_Mutation_p.E99D|PTPN3_ENST00000262539.3_Missense_Mutation_p.E477D|PTPN3_ENST00000446349.1_Missense_Mutation_p.E455D	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	631					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						CCATGGATCCCTCCAAAGTGT	0.552													A	112166788	C	A	112166788	3	1	364	1	0	0	0	0	1	0	0	0	12877	680	24	4	880	4	PTPN3	9	112166788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187400	112166788	29046643	7419	30921											
PTPN3	5774	broad.mit.edu	37	chr9	112170621	112170621	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggtgactctgggtttatccTtgataccacaagaggcatct	10	12	10	9	0	2	3	0	2	2	1	3	3	3	3	2	3	1	2	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112170621T>G	ENST00000412145.1	-	12	3775	c.1222A>C	c.(1222-1224)Agg>Cgg	p.R408R	PTPN3_ENST00000374541.2_Silent_p.R539R|PTPN3_ENST00000394827.3_Silent_p.R7R|PTPN3_ENST00000262539.3_Silent_p.R385R|PTPN3_ENST00000446349.1_Silent_p.R363R	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	539					negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GGGTTTATCCTTGATACCACA	0.338													G	112170621	T	G	112170621	2	3	364	1	0	0	0	0	0	0	0	1	12877	1608	56	5		5	PTPN3	9	112170621	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3833	112170621	29042810	7420	30922											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899207	112899207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcatccgcagccaggcCgtcaagaagaatcctggcat	11	6	11	13	2	2	2	2	0	0	2	4	3	4	2	4	2	2	3	4	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899207C>T	ENST00000374530.3	+	8	1563	c.1383C>T	c.(1381-1383)gcC>gcT	p.A461A	AKAP2_ENST00000434623.2_Silent_p.A319A|AKAP2_ENST00000555236.1_Silent_p.A461A|PALM2-AKAP2_ENST00000302798.7_Silent_p.A461A|AKAP2_ENST00000259318.7_Silent_p.A230A|AKAP2_ENST00000374525.1_Silent_p.A319A|AKAP2_ENST00000510514.5_Silent_p.A461A	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		230							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCAGCCAGGCCGTCAAGAAGA	0.512													T	112899207	C	T	112899207	2	4	364	1	0	0	0	0	0	0	0	1	11486	639	23	1		1	PALM2-AKAP2	9	112899207	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	728586	112899207	28314224	7421	30923											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899576	112899576	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctgttctccatcaaGcctttctacaggcctctggg	6	11	9	15	0	4	0	1	0	3	0	5	0	4	0	4	3	2	2	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899576G>A	ENST00000374530.3	+	8	1932	c.1752G>A	c.(1750-1752)aaG>aaA	p.K584K	AKAP2_ENST00000434623.2_Silent_p.K442K|AKAP2_ENST00000555236.1_Silent_p.K584K|PALM2-AKAP2_ENST00000302798.7_Silent_p.K584K|AKAP2_ENST00000259318.7_Silent_p.K353K|AKAP2_ENST00000374525.1_Silent_p.K442K|AKAP2_ENST00000510514.5_Silent_p.K584K	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		353							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						TCTCCATCAAGCCTTTCTACA	0.542													A	112899576	G	A	112899576	2	1	364	1	0	0	0	0	0	0	0	1	11486	962	34	2		2	PALM2-AKAP2	9	112899576	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369	112899576	28313855	7422	30924											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112899787	112899787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctacagcgagccttctaaaCgtgggcccttatctaaactg	10	10	8	13	2	2	0	0	0	2	0	2	1	2	0	3	1	5	0	3	1	6	5	rs150767444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:112899787C>T	ENST00000374530.3	+	8	2143	c.1963C>T	c.(1963-1965)Cgt>Tgt	p.R655C	AKAP2_ENST00000434623.2_Missense_Mutation_p.R513C|AKAP2_ENST00000555236.1_Missense_Mutation_p.R655C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.R655C|AKAP2_ENST00000259318.7_Missense_Mutation_p.R424C|AKAP2_ENST00000374525.1_Missense_Mutation_p.R513C|AKAP2_ENST00000510514.5_Missense_Mutation_p.R655C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		424							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						GCCTTCTAAACGTGGGCCCTT	0.577													T	112899787	C	T	112899787	3	4	364	1	0	0	0	0	1	0	0	0	11486	536	19	1	1993	1	PALM2-AKAP2	9	112899787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211	112899787	28313644	7423	30925											
SVEP1	79987	broad.mit.edu	37	chr9	113132260	113132260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcggtttggtcttacaCattttccaccatttaagcag	10	14	7	10	1	1	0	0	0	1	0	3	1	2	0	2	2	2	2	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113132260C>T	ENST00000401783.2	-	47	10973	c.10637G>A	c.(10636-10638)tGt>tAt	p.C3546Y	SVEP1_ENST00000297826.5_Missense_Mutation_p.C1472Y|SVEP1_ENST00000374469.1_Missense_Mutation_p.C3523Y	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3546	EGF-like 9.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGGTCTTACACATTTTCCACC	0.368													T	113132260	C	T	113132260	3	4	364	1	0	0	0	0	1	0	0	0	15516	478	17	2	86	2	SVEP1	9	113132260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232473	113132260	28081171	7424	30926											
SVEP1	79987	broad.mit.edu	37	chr9	113168817	113168817	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgcctttccacagtcaaaAtctgtcccattgacagttcc	9	12	6	14	0	2	1	1	1	1	0	5	1	5	1	4	0	1	2	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113168817A>C	ENST00000401783.2	-	38	9399	c.9063T>G	c.(9061-9063)gaT>gaG	p.D3021E	SVEP1_ENST00000297826.5_Missense_Mutation_p.D947E|SVEP1_ENST00000374469.1_Missense_Mutation_p.D2998E	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3021	Sushi 27.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CACAGTCAAAATCTGTCCCAT	0.522													C	113168817	A	C	113168817	3	2	364	1	0	0	0	0	1	0	0	0	15516	98	4	5	1696	5	SVEP1	9	113168817	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36557	113168817	28044614	7425	30927											
SVEP1	79987	broad.mit.edu	37	chr9	113170044	113170044	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgaggagggaggccacaGtctattggcatacatgttgg	11	10	14	6	0	1	1	0	1	1	0	1	3	1	3	1	5	1	2	1	5	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113170044G>A	ENST00000401783.2	-	38	8172	c.7836C>T	c.(7834-7836)gaC>gaT	p.D2612D	SVEP1_ENST00000297826.5_Silent_p.D538D|SVEP1_ENST00000374469.1_Silent_p.D2589D	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2612					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAGGCCACAGTCTATTGGCA	0.463													A	113170044	G	A	113170044	2	1	364	1	0	0	0	0	0	0	0	1	15516	1020	36	2		2	SVEP1	9	113170044	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1227	113170044	28043387	7426	30928											
SVEP1	79987	broad.mit.edu	37	chr9	113191537	113191537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttcactggttcacacacaGgaggggaatgactccaagaa	14	7	10	10	0	2	2	2	1	0	1	3	4	3	4	1	4	0	1	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113191537G>A	ENST00000401783.2	-	35	6029	c.5693C>T	c.(5692-5694)cCt>cTt	p.P1898L	SVEP1_ENST00000374469.1_Missense_Mutation_p.P1875L	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1898	Sushi 8.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TTCACACACAGGAGGGGAATG	0.378													A	113191537	G	A	113191537	3	1	364	1	0	0	0	0	1	0	0	0	15516	1000	35	2	5078	2	SVEP1	9	113191537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21493	113191537	28021894	7427	30929											
SVEP1	79987	broad.mit.edu	37	chr9	113212497	113212497	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactgcattatttaagcaTgggtttgactggcattcatt	10	15	9	7	0	1	2	1	1	0	1	1	2	1	2	0	2	2	4	0	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113212497T>G	ENST00000401783.2	-	24	4281	c.3945A>C	c.(3943-3945)ccA>ccC	p.P1315P	SVEP1_ENST00000374469.1_Silent_p.P1292P|SVEP1_ENST00000302728.8_Silent_p.P1315P|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1315	EGF-like 4; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TATTTAAGCATGGGTTTGACT	0.468													G	113212497	T	G	113212497	2	3	364	1	0	0	0	0	0	0	0	1	15516	1451	51	5		5	SVEP1	9	113212497	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20960	113212497	28000934	7428	30930											
SVEP1	79987	broad.mit.edu	37	chr9	113234560	113234560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagtgtccaggaagtcatcGtaagagtaatccagcctatt	13	10	9	9	1	1	1	1	0	0	1	4	2	3	2	3	1	1	2	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113234560G>A	ENST00000401783.2	-	15	2979	c.2643C>T	c.(2641-2643)taC>taT	p.Y881Y	SVEP1_ENST00000374469.1_Silent_p.Y858Y|SVEP1_ENST00000302728.8_Silent_p.Y881Y|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	881					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGAAGTCATCGTAAGAGTAAT	0.478													A	113234560	G	A	113234560	2	1	364	1	0	0	0	0	0	0	0	1	15516	1140	40	1		1	SVEP1	9	113234560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22063	113234560	27978871	7429	30931											
SVEP1	79987	broad.mit.edu	37	chr9	113312385	113312385	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagcatgaagaagaatttgCtgtaatgaaatggggaaagt	16	10	12	3	0	0	4	0	2	0	2	0	5	0	5	0	2	2	3	0	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113312385C>A	ENST00000401783.2	-	2	868		c.e2-1		SVEP1_ENST00000374469.1_Splice_Site|SVEP1_ENST00000374461.1_Splice_Site|SVEP1_ENST00000302728.8_Splice_Site	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1						cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAAGAATTTGCTGTAATGAAA	0.393													A	113312385	C	A	113312385	5	1	364	1	0	0	0	0	0	0	1	0	15516	811	28	4	10372	4	SVEP1	9	113312385	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77825	113312385	27901046	7430	30932											
MUSK	4593	broad.mit.edu	37	chr9	113509925	113509925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttactctgtcaggtttCttctgggtccattcaagaga	7	16	8	10	0	5	1	2	0	3	1	7	2	7	1	2	2	1	1	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:113509925C>A	ENST00000416899.2	+	7	884	c.758C>A	c.(757-759)tCt>tAt	p.S253Y	MUSK_ENST00000374448.4_Missense_Mutation_p.S253Y|MUSK_ENST00000189978.5_Missense_Mutation_p.S253Y			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	253	Ig-like 3.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TGTCAGGTTTCTTCTGGGTCC	0.393													A	113509925	C	A	113509925	3	1	364	1	0	0	0	0	1	0	0	0	10065	913	32	4	818	4	MUSK	9	113509925	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197540	113509925	27703506	7431	30933											
OR2K2	26248	broad.mit.edu	37	chr9	114089774	114089774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggacccaatcagagatgttCgtgtgtttgatgcaatgtta	10	13	12	6	1	1	2	1	1	0	1	2	4	1	3	1	1	1	4	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114089774C>T	ENST00000374428.1	-	1	1026	c.1027G>A	c.(1027-1029)Gaa>Aaa	p.E343K	OR2K2_ENST00000302681.1_Missense_Mutation_p.E314K			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	343					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.E314K(1)|p.E343K(1)		breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						CAGAGATGTTCGTGTGTTTGA	0.408													T	114089774	C	T	114089774	3	4	364	1	0	0	0	0	1	0	0	0	11081	893	31	1	13	1	OR2K2	9	114089774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	579849	114089774	27123657	7432	30934											
KIAA0368	23392	broad.mit.edu	37	chr9	114154072	114154072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagagctcccccttgaaatAccactgtctctccagaaact	12	9	5	15	0	1	3	0	1	1	2	4	3	3	3	4	0	3	1	4	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114154072A>G	ENST00000259335.4	-	30	3658	c.3659T>C	c.(3658-3660)gTa>gCa	p.V1220A	KIAA0368_ENST00000338205.5_Missense_Mutation_p.V1042A|KIAA0368_ENST00000374378.3_5'UTR	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CCCTTGAAATACCACTGTCTC	0.338													G	114154072	A	G	114154072	3	3	364	1	0	0	0	0	1	0	0	0	8229	391	14	3	2482	3	KIAA0368	9	114154072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	64298	114154072	27059359	7433	30935											
KIAA0368	23392	broad.mit.edu	37	chr9	114176796	114176796	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgttagatgatgagggtgCcatctgcccgcttgacatta	8	13	11	9	1	1	4	0	3	1	1	1	4	1	4	2	1	2	2	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114176796C>A	ENST00000259335.4	-	20	2433	c.2434G>T	c.(2434-2436)Gca>Tca	p.A812S	KIAA0368_ENST00000338205.5_Missense_Mutation_p.A634S	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						GATGAGGGTGCCATCTGCCCG	0.537													A	114176796	C	A	114176796	3	1	364	1	0	0	0	0	1	0	0	0	8229	739	26	4	3747	4	KIAA0368	9	114176796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22724	114176796	27036635	7434	30936											
KIAA0368	23392	broad.mit.edu	37	chr9	114190321	114190321	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctctggaaaaaacaaattaCctgaatgttggctgggaacg	14	10	10	7	1	1	1	0	1	1	0	2	3	1	3	1	3	3	2	1	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114190321C>T	ENST00000259335.4	-	11	1584		c.e11+1		KIAA0368_ENST00000338205.5_Splice_Site	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						AAACAAATTACCTGAATGTTG	0.408													T	114190321	C	T	114190321	5	4	364	1	0	0	0	0	0	0	1	0	8229	521	18	2	4632	2	KIAA0368	9	114190321	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13525	114190321	27023110	7435	30937											
KIAA0368	23392	broad.mit.edu	37	chr9	114195561	114195561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgttgccacactgtggCgtgtatcactagaggcaatc	8	10	11	12	2	1	1	1	0	0	1	2	1	1	1	2	2	2	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114195561C>T	ENST00000259335.4	-	9	1333	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	KIAA0368_ENST00000338205.5_Missense_Mutation_p.R267H	NM_001080398.1	NP_001073867.1			KIAA0368											NS(2)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(23)|prostate(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	65						CACACTGTGGCGTGTATCACT	0.423													T	114195561	C	T	114195561	3	4	364	1	0	0	0	0	1	0	0	0	8229	768	27	1	4891	1	KIAA0368	9	114195561	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5240	114195561	27017870	7436	30938											
ZNF483	158399	broad.mit.edu	37	chr9	114289834	114289834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcagagtctttcagacaGaggtttaggtggttttgtta	9	15	13	4	0	2	3	1	0	1	3	2	4	2	3	0	3	1	4	0	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114289834G>A	ENST00000309235.5	+	2	317	c.159G>A	c.(157-159)caG>caA	p.Q53Q	ZNF483_ENST00000355824.3_Silent_p.Q53Q|ZNF483_ENST00000358151.4_Silent_p.Q53Q|ZNF483_ENST00000374374.3_Silent_p.Q53Q	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	53	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						CTTTCAGACAGAGGTTTAGGT	0.473													A	114289834	G	A	114289834	2	1	364	1	0	0	0	0	0	0	0	1	18037	933	33	2		2	ZNF483	9	114289834	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94273	114289834	26923597	7437	30939											
ZNF483	158399	broad.mit.edu	37	chr9	114304804	114304804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taaatgtaaagactgtgggaGaccctttagtgacagttcat	13	12	10	6	0	1	3	1	1	0	2	1	4	1	3	1	1	0	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114304804G>A	ENST00000309235.5	+	6	1747	c.1589G>A	c.(1588-1590)aGa>aAa	p.R530K	ZNF483_ENST00000358151.4_Intron	NM_133464.2	NP_597721.2	Q8TF39	ZN483_HUMAN	zinc finger protein 483	530					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(11)|ovary(1)|skin(5)	31						GACTGTGGGAGACCCTTTAGT	0.388													A	114304804	G	A	114304804	3	1	364	1	0	0	0	0	1	0	0	0	18037	942	33	2	1607	2	ZNF483	9	114304804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14970	114304804	26908627	7438	30940											
C9orf84	158401	broad.mit.edu	37	chr9	114454223	114454223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccctctagtgaaaagataGggtccgatacatctttattt	11	14	8	8	1	2	2	0	1	2	1	3	3	3	2	2	1	2	0	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114454223G>T	ENST00000394779.3	-	23	3969	c.3725C>A	c.(3724-3726)cCt>cAt	p.P1242H	C9orf84_ENST00000318737.4_Missense_Mutation_p.P1281H|C9orf84_ENST00000394777.4_Missense_Mutation_p.P1207H|C9orf84_ENST00000374287.3_Missense_Mutation_p.P1281H	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1281										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAAAGATAGGGTCCGATAC	0.383													T	114454223	G	T	114454223	3	4	364	1	0	0	0	0	1	0	0	0	2526	1000	35	4	500	4	C9orf84	9	114454223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149419	114454223	26759208	7439	30941											
C9orf84	158401	broad.mit.edu	37	chr9	114456636	114456636	+	Frame_Shift_Del	DEL	T	T	-																															tgcttctactcctggggcaaTtataagctaaaaaatatttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114456636delT	ENST00000394779.3	-	21	3125	c.2881delA	c.(2881-2883)attfs	p.I961fs	C9orf84_ENST00000374287.3_Frame_Shift_Del_p.I1000fs|C9orf84_ENST00000394777.4_Frame_Shift_Del_p.I926fs|C9orf84_ENST00000318737.4_Frame_Shift_Del_p.I1000fs	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	1000										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CCTGGGGCAATTATAAGCTAA	0.294													-	114456636	T	-	114456636	7	5	364	1	0	1	0	1	0	0	0	0	2526	1493	52	0	1352	0	C9orf84	9	114456636	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	2413	114456636	26756795	7440	30942											
C9orf84	158401	broad.mit.edu	37	chr9	114467552	114467552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctagcagctgaagtatgtCtggagtattaagaagtcctt	11	14	10	6	0	2	2	0	1	2	1	3	3	3	3	1	1	2	4	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114467552C>T	ENST00000394779.3	-	17	2765	c.2521G>A	c.(2521-2523)Gac>Aac	p.D841N	C9orf84_ENST00000318737.4_Missense_Mutation_p.D880N|C9orf84_ENST00000394777.4_Missense_Mutation_p.D806N|C9orf84_ENST00000374287.3_Missense_Mutation_p.D880N	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	880										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGAAGTATGTCTGGAGTATTA	0.338													T	114467552	C	T	114467552	3	4	364	1	0	0	0	0	1	0	0	0	2526	913	32	2	1728	2	C9orf84	9	114467552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10916	114467552	26745879	7441	30943											
C9orf84	158401	broad.mit.edu	37	chr9	114518719	114518719	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatttctggtttgaggcttgGaggtattaagaattcatact	11	16	10	4	0	2	2	1	1	1	1	2	3	2	3	0	4	1	3	0	4	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114518719G>T	ENST00000394779.3	-	4	683	c.439C>A	c.(439-441)Cca>Aca	p.P147T	C9orf84_ENST00000374283.5_Missense_Mutation_p.P250T|C9orf84_ENST00000318737.4_Missense_Mutation_p.P186T|C9orf84_ENST00000394777.4_Missense_Mutation_p.P147T|C9orf84_ENST00000374287.3_Missense_Mutation_p.P186T	NM_001080551.1	NP_001074020.1	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	186										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTGAGGCTTGGAGGTATTAAG	0.308													T	114518719	G	T	114518719	3	4	364	1	0	0	0	0	1	0	0	0	2526	1174	41	4	3862	4	C9orf84	9	114518719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51167	114518719	26694712	7442	30944											
C9orf84	158401	broad.mit.edu	37	chr9	114543212	114543212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattaaggatacatacttCtcaaggaaatcctccacaaa	17	9	6	9	0	1	1	1	0	1	1	4	4	3	3	2	2	2	0	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114543212C>A	ENST00000374287.3	-	4	323	c.63G>T	c.(61-63)gaG>gaT	p.E21D	C9orf84_ENST00000374283.5_Missense_Mutation_p.E85D|C9orf84_ENST00000318737.4_Missense_Mutation_p.E21D			Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	21										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						ATACATACTTCTCAAGGAAAT	0.368													A	114543212	C	A	114543212	3	1	364	1	0	0	0	0	1	0	0	0	2526	912	32	4	4508	4	C9orf84	9	114543212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24493	114543212	26670219	7443	30945											
UGCG	7357	broad.mit.edu	37	chr9	114688752	114688752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttacgtagcagacagacaGggctttgctgccaccttaga	10	9	10	12	1	0	3	0	0	0	3	0	3	0	3	3	1	4	4	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114688752G>T	ENST00000374279.3	+	5	984	c.534G>T	c.(532-534)caG>caT	p.Q178H	UGCG_ENST00000495085.1_3'UTR	NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	178					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	CAGACAGACAGGGCTTTGCTG	0.443													T	114688752	G	T	114688752	3	4	364	1	0	0	0	0	1	0	0	0	17041	991	35	4	552	4	UGCG	9	114688752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145540	114688752	26524679	7444	30946											
UGCG	7357	broad.mit.edu	37	chr9	114695147	114695147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacttgattatgcagtcgCctggttcatccgcgaatcca	11	11	8	11	3	1	1	1	1	0	0	4	2	3	1	3	1	2	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114695147C>T	ENST00000374279.3	+	9	1505	c.1055C>T	c.(1054-1056)gCc>gTc	p.A352V		NM_003358.1	NP_003349.1	Q16739	CEGT_HUMAN	UDP-glucose ceramide glucosyltransferase	352					epidermis development|glucosylceramide biosynthetic process	Golgi membrane|integral to membrane|membrane fraction	ceramide glucosyltransferase activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|ovary(1)|urinary_tract(1)	12				OV - Ovarian serous cystadenocarcinoma(323;0.0433)	Miglustat(DB00419)	TATGCAGTCGCCTGGTTCATC	0.393													T	114695147	C	T	114695147	3	4	364	1	0	0	0	0	1	0	0	0	17041	739	26	2	1089	2	UGCG	9	114695147	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6395	114695147	26518284	7445	30947											
SUSD1	64420	broad.mit.edu	37	chr9	114860832	114860832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acattcaccgtataatcagtCgtagggtacagatccaaaca	15	9	7	10	2	2	1	2	0	0	1	4	1	3	1	2	1	2	3	2	1	5	5	rs139934700	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114860832C>T	ENST00000374270.3	-	10	1564	c.1392G>A	c.(1390-1392)acG>acA	p.T464T	SUSD1_ENST00000374264.2_Silent_p.T464T|SUSD1_ENST00000374263.3_Silent_p.T464T	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	464						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TATAATCAGTCGTAGGGTACA	0.478													T	114860832	C	T	114860832	2	4	364	1	0	0	0	0	0	0	0	1	15503	871	31	1		1	SUSD1	9	114860832	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165685	114860832	26352599	7446	30948											
SUSD1	64420	broad.mit.edu	37	chr9	114874116	114874116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaaccgttgtccttttatgGatatctttgagaggaaaaga	12	13	9	7	1	1	2	0	1	1	2	2	5	2	4	3	2	1	1	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114874116G>A	ENST00000374270.3	-	8	1161	c.989C>T	c.(988-990)tCc>tTc	p.S330F	SUSD1_ENST00000374264.2_Missense_Mutation_p.S330F|SUSD1_ENST00000374263.3_Missense_Mutation_p.S330F	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	330						integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						TCCTTTTATGGATATCTTTGA	0.468													A	114874116	G	A	114874116	3	1	364	1	0	0	0	0	1	0	0	0	15503	1174	41	2	1294	2	SUSD1	9	114874116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13284	114874116	26339315	7447	30949											
SUSD1	64420	broad.mit.edu	37	chr9	114886614	114886614	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttcctccagggctctcaAagccctcttgacagacatag	9	11	7	14	0	3	2	1	1	3	1	6	2	5	2	3	1	1	1	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:114886614A>C	ENST00000374270.3	-	6	981	c.809T>G	c.(808-810)tTt>tGt	p.F270C	SUSD1_ENST00000482851.1_5'UTR|SUSD1_ENST00000374264.2_Missense_Mutation_p.F270C|SUSD1_ENST00000374263.3_Missense_Mutation_p.F270C	NM_022486.3	NP_071931.2	Q6UWL2	SUSD1_HUMAN	sushi domain containing 1	270	Sushi 2.					integral to membrane	calcium ion binding		SUSD1/ROD1(2)	central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28						AGGGCTCTCAAAGCCCTCTTG	0.522													C	114886614	A	C	114886614	3	2	364	1	0	0	0	0	1	0	0	0	15503	14	1	5	1482	5	SUSD1	9	114886614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12498	114886614	26326817	7448	30950											
KIAA1958	158405	broad.mit.edu	37	chr9	115336718	115336718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaccggaccagagactctTgtgacttctcctactgtagt	9	12	9	11	1	2	2	0	1	2	1	3	4	2	3	3	1	2	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115336718T>C	ENST00000337530.6	+	2	654	c.358T>C	c.(358-360)Tgt>Cgt	p.C120R	KIAA1958_ENST00000374244.3_Missense_Mutation_p.C120R|KIAA1958_ENST00000536272.1_Missense_Mutation_p.C120R	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	120										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						CAGAGACTCTTGTGACTTCTC	0.473													C	115336718	T	C	115336718	3	2	364	1	0	0	0	0	1	0	0	0	8322	1812	63	3	360	3	KIAA1958	9	115336718	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	450104	115336718	25876713	7449	30951											
KIAA1958	158405	broad.mit.edu	37	chr9	115422292	115422292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactgtgagaacttcacCtttgtctcgttcactcaggt	10	13	8	10	1	4	1	3	1	1	1	5	3	4	1	1	1	2	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115422292C>T	ENST00000337530.6	+	4	2390	c.2094C>T	c.(2092-2094)acC>acT	p.T698T	KIAA1958_ENST00000536272.1_Silent_p.T726T	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	698										endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						AGAACTTCACCTTTGTCTCGT	0.607													T	115422292	C	T	115422292	2	4	364	1	0	0	0	0	0	0	0	1	8322	668	24	2		2	KIAA1958	9	115422292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85574	115422292	25791139	7450	30952											
SLC46A2	57864	broad.mit.edu	37	chr9	115651934	115651934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggtgtcccgaaagcagCgggagaagaccaggacaccc	11	4	15	11	2	0	2	0	0	0	2	1	5	1	3	3	4	2	1	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115651934C>T	ENST00000374228.4	-	1	1259	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	343						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CCGAAAGCAGCGGGAGAAGAC	0.527													T	115651934	C	T	115651934	3	4	364	1	0	0	0	0	1	0	0	0	14739	768	27	1	415	1	SLC46A2	9	115651934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229642	115651934	25561497	7451	30953											
ZNF883	169834	broad.mit.edu	37	chr9	115760310	115760310	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattagtgctctgactaaaaGctttcccacattcattacat	12	14	5	10	0	2	1	1	1	1	0	3	2	3	1	1	0	3	2	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115760310G>A	ENST00000427548.1	-	0	1503							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CTGACTAAAAGCTTTCCCACA	0.358													A	115760310	G	A	115760310	1	1	364	0	1	0	0	0	0	0	0	0	18297	971	34	2		2	ZNF883	9	115760310	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108376	115760310	25453121	7452	30954											
ZFP37	7539	broad.mit.edu	37	chr9	115806439	115806439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttccccagtgaaccacaGtcactgccattcttcttagc	8	14	5	14	0	3	1	1	1	2	0	4	1	4	1	4	0	3	0	4	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115806439G>A	ENST00000374227.3	-	4	486	c.459C>T	c.(457-459)gaC>gaT	p.D153D	ZFP37_ENST00000555206.1_Silent_p.D154D|ZFP37_ENST00000553380.1_Silent_p.D168D	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	153						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GTGAACCACAGTCACTGCCAT	0.348													A	115806439	G	A	115806439	2	1	364	1	0	0	0	0	0	0	0	1	17749	1020	36	2		2	ZFP37	9	115806439	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46129	115806439	25406992	7453	30955											
FKBP15	23307	broad.mit.edu	37	chr9	115932853	115932853	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgccattgtaagattcCtccagctcaaactctctccg	8	12	6	15	1	2	1	1	0	1	1	7	1	6	1	5	0	3	2	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115932853C>T	ENST00000238256.3	-	25	2832	c.2715G>A	c.(2713-2715)gaG>gaA	p.E905E		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	905					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TGTAAGATTCCTCCAGCTCAA	0.438													T	115932853	C	T	115932853	2	4	364	1	0	0	0	0	0	0	0	1	5954	680	24	2		2	FKBP15	9	115932853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126414	115932853	25280578	7454	30956											
FKBP15	23307	broad.mit.edu	37	chr9	115950167	115950167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctggagcccagtaacaGatggctgaggtgctaagata	11	8	14	8	0	0	3	0	1	0	2	0	4	0	4	2	3	4	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115950167G>T	ENST00000238256.3	-	14	1406	c.1289C>A	c.(1288-1290)tCt>tAt	p.S430Y		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	430					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						CCCAGTAACAGATGGCTGAGG	0.463													T	115950167	G	T	115950167	3	4	364	1	0	0	0	0	1	0	0	0	5954	942	33	4	2430	4	FKBP15	9	115950167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17314	115950167	25263264	7455	30957											
FKBP15	23307	broad.mit.edu	37	chr9	115959295	115959295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagccaacagcacaggCtggagggacaataagcaatc	14	6	11	10	0	1	1	0	1	1	0	2	3	1	3	1	3	4	3	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:115959295C>A	ENST00000238256.3	-	9	898	c.781G>T	c.(781-783)Gcc>Tcc	p.A261S		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	261	PPIase FKBP-type.				endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						ACAGCACAGGCTGGAGGGACA	0.498													A	115959295	C	A	115959295	3	1	364	1	0	0	0	0	1	0	0	0	5954	797	28	4	2958	4	FKBP15	9	115959295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9128	115959295	25254136	7456	30958											
PRPF4	9128	broad.mit.edu	37	chr9	116050475	116050475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgaaccagtggcagataTtgaaggccatacagtgcgtg	12	9	13	7	1	0	4	0	3	0	1	0	4	0	4	2	2	3	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116050475T>C	ENST00000374199.4	+	10	1354	c.953T>C	c.(952-954)aTt>aCt	p.I318T	PRPF4_ENST00000374198.4_Missense_Mutation_p.I319T			O43172	PRP4_HUMAN	pre-mRNA processing factor 4	319						Cajal body|nuclear speck|spliceosomal complex|U4/U6 snRNP	protein binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|prostate(2)	23						GTGGCAGATATTGAAGGCCAT	0.433													C	116050475	T	C	116050475	3	2	364	1	0	0	0	0	1	0	0	0	12656	1493	52	3	994	3	PRPF4	9	116050475	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91180	116050475	25162956	7457	30959											
WDR31	114987	broad.mit.edu	37	chr9	116085392	116085392	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcatgaccatcctgtcaCgagaggcactgaagaactgg	13	7	10	11	1	2	4	2	2	0	2	3	5	3	4	2	2	1	1	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116085392C>T	ENST00000374195.3	-	0	453				WDR31_ENST00000374193.4_Missense_Mutation_p.R123H|WDR31_ENST00000461942.1_5'UTR|WDR31_ENST00000341761.4_Missense_Mutation_p.R122H			Q8NA23	WDR31_HUMAN	WD repeat domain 31											NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CATCCTGTCACGAGAGGCACT	0.512													T	116085392	C	T	116085392	1	4	364	1	0	0	0	0	0	0	0	0	17388	536	19	1		1	WDR31	9	116085392	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34917	116085392	25128039	7458	30960											
BSPRY	54836	broad.mit.edu	37	chr9	116130640	116130640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgacccaactctgggcaaCggcggttcttgggtctctct	6	11	11	13	2	4	1	0	1	4	0	5	1	4	1	1	4	2	2	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116130640C>T	ENST00000374183.4	+	5	698	c.659C>T	c.(658-660)aCg>aTg	p.T220M	BSPRY_ENST00000462085.1_Intron	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	220	B30.2/SPRY.				calcium ion transport	cytoplasm|membrane	zinc ion binding			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CTCTGGGCAACGGCGGTTCTT	0.532													T	116130640	C	T	116130640	3	4	364	1	0	0	0	0	1	0	0	0	1541	536	19	1	677	1	BSPRY	9	116130640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45248	116130640	25082791	7459	30961											
HDHD3	81932	broad.mit.edu	37	chr9	116136318	116136318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaggtgcaggggtggCtgaagtctttataaagctgt	8	11	14	8	0	1	1	0	1	1	0	1	1	1	1	2	4	3	3	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116136318C>A	ENST00000238379.5	-	2	1214	c.317G>T	c.(316-318)aGc>aTc	p.S106I	HDHD3_ENST00000374180.3_Missense_Mutation_p.S106I|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	106							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GCAGGGGTGGCTGAAGTCTTT	0.602													A	116136318	C	A	116136318	3	1	364	1	0	0	0	0	1	0	0	0	7079	797	28	4	442	4	HDHD3	9	116136318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5678	116136318	25077113	7460	30962											
ALAD	210	broad.mit.edu	37	chr9	116150607	116150607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcagccactgcagcagCtgcggtgtgtagtaggtgat	7	11	13	10	1	1	1	1	1	0	0	2	1	2	1	2	2	5	5	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150607C>A	ENST00000409155.3	-	12	1162	c.966G>T	c.(964-966)caG>caT	p.Q322H	ALAD_ENST00000277315.5_Missense_Mutation_p.Q305H	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	322					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	ACTGCAGCAGCTGCGGTGTGT	0.532													A	116150607	C	A	116150607	3	1	364	1	0	0	0	0	1	0	0	0	483	796	28	4	30	4	ALAD	9	116150607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14289	116150607	25062824	7461	30963											
ALAD	210	broad.mit.edu	37	chr9	116150638	116150638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaggtgatgatgatgtcaGcacctgtgttgggagagatg	10	11	16	4	0	1	4	1	3	0	1	1	6	1	5	1	2	1	3	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116150638G>T	ENST00000409155.3	-	12	1131	c.935C>A	c.(934-936)gCt>gAt	p.A312D	ALAD_ENST00000277315.5_Missense_Mutation_p.A295D	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	312					heme biosynthetic process|protein homooligomerization	cytosol	identical protein binding|lead ion binding|porphobilinogen synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	GATGATGTCAGCACCTGTGTT	0.547													T	116150638	G	T	116150638	3	4	364	1	0	0	0	0	1	0	0	0	483	971	34	4	61	4	ALAD	9	116150638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31	116150638	25062793	7462	30964											
C9orf43	257169	broad.mit.edu	37	chr9	116187329	116187329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgatatcctgaacgtttgAagaaattacataacctgaag	15	11	8	7	2	0	4	0	3	0	1	1	5	1	4	2	0	4	1	2	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116187329A>G	ENST00000288462.4	+	9	1284	c.838A>G	c.(838-840)Aag>Gag	p.K280E	C9orf43_ENST00000374165.1_Missense_Mutation_p.K280E	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	280										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGAACGTTTGAAGAAATTACA	0.413													G	116187329	A	G	116187329	3	3	364	1	0	0	0	0	1	0	0	0	2509	247	9	3	868	3	C9orf43	9	116187329	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36691	116187329	25026102	7463	30965											
C9orf43	257169	broad.mit.edu	37	chr9	116191520	116191520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggacgctgtgccagaaGcccaggctgccaggcaaaag	11	4	14	12	1	0	1	0	0	0	1	0	2	0	2	3	3	3	3	3	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116191520G>T	ENST00000288462.4	+	14	1686	c.1240G>T	c.(1240-1242)Gcc>Tcc	p.A414S	C9orf43_ENST00000374165.1_Missense_Mutation_p.A414S	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	414										breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						TGTGCCAGAAGCCCAGGCTGC	0.448													T	116191520	G	T	116191520	3	4	364	1	0	0	0	0	1	0	0	0	2509	971	34	4	1290	4	C9orf43	9	116191520	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4191	116191520	25021911	7464	30966											
RGS3	5998	broad.mit.edu	37	chr9	116267769	116267769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttggcttcaccatctgctgCgactctccagttcgagtcca	6	13	8	14	2	3	0	1	0	2	0	6	2	4	0	3	1	2	3	3	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116267769C>T	ENST00000374140.2	+	12	1154	c.945C>T	c.(943-945)tgC>tgT	p.C315C	RGS3_ENST00000394646.3_Silent_p.C34C|RGS3_ENST00000317613.6_Silent_p.C203C|RGS3_ENST00000343817.5_Silent_p.C34C|RGS3_ENST00000374136.1_5'UTR|RGS3_ENST00000350696.5_Silent_p.C315C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	315	PDZ.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						CCATCTGCTGCGACTCTCCAG	0.577													T	116267769	C	T	116267769	2	4	364	1	0	0	0	0	0	0	0	1	13395	776	27	1		1	RGS3	9	116267769	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76249	116267769	24945662	7465	30967											
RGS3	5998	broad.mit.edu	37	chr9	116285291	116285291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacgtcctgaggaaccccCtctacctccagagtgtgaag	9	7	11	14	2	1	3	0	2	1	1	3	5	3	4	5	1	2	0	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116285291C>A	ENST00000374140.2	+	18	2049	c.1840C>A	c.(1840-1842)Ctc>Atc	p.L614I	RGS3_ENST00000394646.3_Missense_Mutation_p.L333I|RGS3_ENST00000317613.6_Missense_Mutation_p.L502I|RGS3_ENST00000343817.5_Missense_Mutation_p.L333I|RGS3_ENST00000374136.1_Missense_Mutation_p.L240I|RGS3_ENST00000350696.5_Missense_Mutation_p.L614I	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	614					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAGGAACCCCCTCTACCTCCA	0.607													A	116285291	C	A	116285291	3	1	364	1	0	0	0	0	1	0	0	0	13395	681	24	4	2047	4	RGS3	9	116285291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17522	116285291	24928140	7466	30968											
RGS3	5998	broad.mit.edu	37	chr9	116346234	116346234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctactggggacccacctGcggcccccaggccagccttc	6	5	11	19	1	0	0	0	0	0	0	1	1	0	1	6	4	4	1	6	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346234G>A	ENST00000374140.2	+	21	2751	c.2542G>A	c.(2542-2544)Gcg>Acg	p.A848T	RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Missense_Mutation_p.A567T|RGS3_ENST00000374134.3_Missense_Mutation_p.A169T|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Missense_Mutation_p.A848T|RGS3_ENST00000462143.1_Missense_Mutation_p.A169T	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	848					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGACCCACCTGCGGCCCCCAG	0.642													A	116346234	G	A	116346234	3	1	364	1	0	0	0	0	1	0	0	0	13395	1319	46	2	2873	2	RGS3	9	116346234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60943	116346234	24867197	7467	30969											
RGS3	5998	broad.mit.edu	37	chr9	116346483	116346483	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgagggtggcctctcaCtgcgtgtgcagaactcgctg	5	9	16	11	2	1	2	1	1	1	1	3	2	1	2	1	3	3	3	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116346483C>T	ENST00000374140.2	+	21	3000	c.2791C>T	c.(2791-2793)Ctg>Ttg	p.L931L	RGS3_ENST00000394646.3_Intron|RP11-168K11.2_ENST00000428429.1_RNA|RGS3_ENST00000343817.5_Silent_p.L650L|RGS3_ENST00000374134.3_Silent_p.L252L|RGS3_ENST00000342620.5_Intron|RGS3_ENST00000350696.5_Silent_p.L931L|RGS3_ENST00000462143.1_Silent_p.L252L	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	931					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TGGCCTCTCACTGCGTGTGCA	0.672													T	116346483	C	T	116346483	2	4	364	1	0	0	0	0	0	0	0	1	13395	564	20	2		2	RGS3	9	116346483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249	116346483	24866948	7468	30970											
RGS3	5998	broad.mit.edu	37	chr9	116359132	116359132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttcgacctggcacagaagCgcatcttcgggctcatggaa	9	8	12	12	3	2	1	1	0	1	1	4	3	2	2	1	3	1	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116359132C>T	ENST00000374140.2	+	26	3705	c.3496C>T	c.(3496-3498)Cgc>Tgc	p.R1166C	RGS3_ENST00000394646.3_Missense_Mutation_p.R559C|RGS3_ENST00000343817.5_Missense_Mutation_p.R885C|RGS3_ENST00000374134.3_Missense_Mutation_p.R487C|RGS3_ENST00000342620.5_Missense_Mutation_p.R136C|RGS3_ENST00000350696.5_Missense_Mutation_p.R1166C|RGS3_ENST00000462143.1_Missense_Mutation_p.R487C|RGS3_ENST00000462403.1_Missense_Mutation_p.R279C	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1166	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GGCACAGAAGCGCATCTTCGG	0.582													T	116359132	C	T	116359132	3	4	364	1	0	0	0	0	1	0	0	0	13395	768	27	1	4270	1	RGS3	9	116359132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12649	116359132	24854299	7469	30971											
ZNF618	114991	broad.mit.edu	37	chr9	116750643	116750643	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagagcaccaaggtggagggCccagagccagtgccagccga	12	2	15	12	1	0	2	0	0	0	2	0	4	0	3	5	3	4	1	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116750643C>T	ENST00000288466.7	+	3	219	c.120C>T	c.(118-120)ggC>ggT	p.G40G	ZNF618_ENST00000374126.5_Silent_p.G40G	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						AGGTGGAGGGCCCAGAGCCAG	0.587													T	116750643	C	T	116750643	2	4	364	1	0	0	0	0	0	0	0	1	18143	726	26	2		2	ZNF618	9	116750643	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391511	116750643	24462788	7470	30972											
ZNF618	114991	broad.mit.edu	37	chr9	116811240	116811240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggcatcggtgtcacctGccactcccagagtgttggcc	6	9	11	15	1	1	1	1	0	0	1	3	1	2	1	5	3	1	2	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811240G>A	ENST00000288466.7	+	14	1478	c.1379G>A	c.(1378-1380)tGc>tAc	p.C460Y	ZNF618_ENST00000374126.5_Missense_Mutation_p.C553Y|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	553					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGTGTCACCTGCCACTCCCAG	0.592													A	116811240	G	A	116811240	3	1	364	1	0	0	0	0	1	0	0	0	18143	1319	46	2	1433	2	ZNF618	9	116811240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60597	116811240	24402191	7471	30973											
ZNF618	114991	broad.mit.edu	37	chr9	116811954	116811954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacctcttcctggaggCgctcaaggagaacttcaagg	9	8	11	13	1	3	1	2	0	1	1	4	3	4	2	3	4	2	1	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116811954C>T	ENST00000288466.7	+	14	2192	c.2093C>T	c.(2092-2094)gCg>gTg	p.A698V	ZNF618_ENST00000374126.5_Missense_Mutation_p.A791V|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						TTCCTGGAGGCGCTCAAGGAG	0.637													T	116811954	C	T	116811954	3	4	364	1	0	0	0	0	1	0	0	0	18143	768	27	1	2147	1	ZNF618	9	116811954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	714	116811954	24401477	7472	30974											
AMBP	259	broad.mit.edu	37	chr9	116838953	116838953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtgctcactgtcatcCtgtccatgatcttcttcagc	6	13	7	15	1	5	1	3	1	2	0	7	1	7	1	3	0	3	1	3	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116838953C>A	ENST00000265132.3	-	2	447	c.185G>T	c.(184-186)aGg>aTg	p.R62M		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	62					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CACTGTCATCCTGTCCATGAT	0.597													A	116838953	C	A	116838953	3	1	364	1	0	0	0	0	1	0	0	0	564	681	24	4	909	4	AMBP	9	116838953	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26999	116838953	24374478	7473	30975											
AMBP	259	broad.mit.edu	37	chr9	116840374	116840374	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagcggcagccttaccCgagagatattgaagttttcc	11	9	11	10	2	0	3	0	1	0	2	1	6	1	3	3	1	3	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116840374C>T	ENST00000265132.3	-	1	378	c.116G>A	c.(115-117)cGg>cAg	p.R39Q		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	39					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	CAGCCTTACCCGAGAGATATT	0.642													T	116840374	C	T	116840374	5	4	364	1	0	0	0	0	0	0	1	0	564	666	23	1	982	1	AMBP	9	116840374	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1421	116840374	24373057	7474	30976											
KIF12	113220	broad.mit.edu	37	chr9	116854674	116854674	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgcagaaggtaccacCtcctcctccgtcaacatctc	9	8	9	15	1	2	1	1	0	1	1	6	2	5	2	5	3	3	2	5	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116854674C>A	ENST00000374118.3	-	15	1578	c.1341G>T	c.(1339-1341)gaG>gaT	p.E447D		NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	580					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						AAGGTACCACCTCCTCCTCCG	0.602													A	116854674	C	A	116854674	3	1	364	1	0	0	0	0	1	0	0	0	8331	680	24	4	208	4	KIF12	9	116854674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14300	116854674	24358757	7475	30977											
COL27A1	85301	broad.mit.edu	37	chr9	116999977	116999977	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggatccattgggtttccCgggccccctggacccgaggt	7	8	13	13	2	0	0	0	0	0	0	2	3	2	2	5	5	0	1	5	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:116999977C>T	ENST00000356083.3	+	19	3100	c.2709C>T	c.(2707-2709)ccC>ccT	p.P903P		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	903	Collagen-like 5.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent	p.P903P(1)		central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TTGGGTTTCCCGGGCCCCCTG	0.617													T	116999977	C	T	116999977	2	4	364	1	0	0	0	0	0	0	0	1	3716	639	23	1		1	COL27A1	9	116999977	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145303	116999977	24213454	7476	30978											
DFNB31	25861	broad.mit.edu	37	chr9	117169038	117169038	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgagcaggaaggcatggaGgaaggtggctggaggtcctc	9	5	18	9	1	0	0	0	0	0	0	2	5	1	4	2	8	1	3	2	8	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117169038G>T	ENST00000362057.3	-	9	2001	c.1833C>A	c.(1831-1833)tcC>tcA	p.S611S	DFNB31_ENST00000374059.3_Silent_p.S260S|DFNB31_ENST00000265134.6_Silent_p.S228S	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	611	Pro-rich.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAGGCATGGAGGAAGGTGGCT	0.667													T	117169038	G	T	117169038	2	4	364	1	0	0	0	0	0	0	0	1	4494	987	35	4		4	DFNB31	9	117169038	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169061	117169038	24044393	7477	30979											
DFNB31	25861	broad.mit.edu	37	chr9	117188682	117188682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccattcacttctagaatCtggtccccaacctgccaaga	10	9	6	16	1	3	2	1	0	2	2	4	2	4	2	5	1	2	0	5	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117188682C>A	ENST00000362057.3	-	4	1143	c.975G>T	c.(973-975)caG>caT	p.Q325H	DFNB31_ENST00000265134.6_5'UTR	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	325	PDZ 2.				inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTTCTAGAATCTGGTCCCCAA	0.527													A	117188682	C	A	117188682	3	1	364	1	0	0	0	0	1	0	0	0	4494	912	32	4	1784	4	DFNB31	9	117188682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19644	117188682	24024749	7478	30980											
TNFSF15	9966	broad.mit.edu	37	chr9	117555845	117555845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaactcctgtccttttaGagcctattgggaaagaaagt	12	12	9	8	0	0	2	0	0	0	2	2	3	2	3	3	1	3	1	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117555845G>T	ENST00000374045.4	-	2	327	c.214C>A	c.(214-216)Cta>Ata	p.L72I		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	72		Cleavage.			activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TGTCCTTTTAGAGCCTATTGG	0.418													T	117555845	G	T	117555845	3	4	364	1	0	0	0	0	1	0	0	0	16408	933	33	4	553	4	TNFSF15	9	117555845	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367163	117555845	23657586	7479	30981											
TNFSF8	944	broad.mit.edu	37	chr9	117692400	117692400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacttaccgtcctctgaaCgaccaacaccataatagtgg	12	9	6	14	2	1	1	0	1	1	0	3	2	3	1	5	1	3	0	5	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117692400C>T	ENST00000223795.2	-	1	297	c.184G>A	c.(184-186)Gtt>Att	p.V62I		NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	62					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GTCCTCTGAACGACCAACACC	0.507													T	117692400	C	T	117692400	3	4	364	1	0	0	0	0	1	0	0	0	16411	536	19	1	536	1	TNFSF8	9	117692400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136555	117692400	23521031	7480	30982											
TNC	3371	broad.mit.edu	37	chr9	117783498	117783498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtctcagcttcatctcagCaaactggattgagtgttcgt	8	14	10	9	1	3	1	3	1	2	0	6	2	3	2	0	2	3	3	0	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117783498C>T	ENST00000350763.4	-	28	6955	c.6544G>A	c.(6544-6546)Gct>Act	p.A2182T	TNC_ENST00000340094.3_Missense_Mutation_p.A1818T|TNC_ENST00000535648.1_Missense_Mutation_p.A1727T|TNC_ENST00000537320.1_Missense_Mutation_p.A1545T|TNC_ENST00000423613.2_Missense_Mutation_p.A1909T|TNC_ENST00000341037.4_Missense_Mutation_p.A2000T|TNC_ENST00000346706.3_Missense_Mutation_p.A1636T|TNC_ENST00000542877.1_Missense_Mutation_p.A1819T|TNC_ENST00000345230.3_Missense_Mutation_p.A1545T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2182	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCATCTCAGCAAACTGGATT	0.488													T	117783498	C	T	117783498	3	4	364	1	0	0	0	0	1	0	0	0	16370	710	25	2	65	2	TNC	9	117783498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91098	117783498	23429933	7481	30983											
TNC	3371	broad.mit.edu	37	chr9	117791675	117791675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcggtccccaaatccagCagcatatgccttccagtttt	8	12	7	14	1	1	0	0	0	1	0	4	0	4	0	5	1	4	3	5	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117791675C>T	ENST00000350763.4	-	25	6544	c.6133G>A	c.(6133-6135)Gct>Act	p.A2045T	TNC_ENST00000340094.3_Missense_Mutation_p.A1681T|TNC_ENST00000535648.1_Missense_Mutation_p.A1590T|TNC_ENST00000537320.1_Missense_Mutation_p.A1408T|TNC_ENST00000423613.2_Missense_Mutation_p.A1772T|TNC_ENST00000341037.4_Missense_Mutation_p.A1863T|TNC_ENST00000346706.3_Missense_Mutation_p.A1499T|TNC_ENST00000542877.1_Missense_Mutation_p.A1682T|TNC_ENST00000345230.3_Missense_Mutation_p.A1408T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2045	Fibrinogen C-terminal.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCAAATCCAGCAGCATATGCC	0.443													T	117791675	C	T	117791675	3	4	364	1	0	0	0	0	1	0	0	0	16370	710	25	2	488	2	TNC	9	117791675	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8177	117791675	23421756	7482	30984											
TNC	3371	broad.mit.edu	37	chr9	117797590	117797590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactgaacctcagtagcagTcaagtctcttggagaatcga	12	9	10	10	2	3	2	2	1	1	1	5	5	3	2	1	1	2	2	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117797590T>C	ENST00000350763.4	-	22	6091	c.5680A>G	c.(5680-5682)Act>Gct	p.T1894A	TNC_ENST00000340094.3_Missense_Mutation_p.T1530A|TNC_ENST00000535648.1_Missense_Mutation_p.T1439A|TNC_ENST00000537320.1_Missense_Mutation_p.T1257A|TNC_ENST00000423613.2_Missense_Mutation_p.T1621A|TNC_ENST00000341037.4_Missense_Mutation_p.T1712A|TNC_ENST00000346706.3_Missense_Mutation_p.T1348A|TNC_ENST00000542877.1_Missense_Mutation_p.T1531A|TNC_ENST00000345230.3_Missense_Mutation_p.T1257A	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1894	Fibronectin type-III 15.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TCAGTAGCAGTCAAGTCTCTT	0.512													C	117797590	T	C	117797590	3	2	364	1	0	0	0	0	1	0	0	0	16370	1667	58	3	953	3	TNC	9	117797590	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5915	117797590	23415841	7483	30985											
TNC	3371	broad.mit.edu	37	chr9	117819616	117819616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcaatggtaaaggtctcGaagatcccatcggtagccat	12	11	9	9	2	2	1	1	0	1	1	5	2	3	1	2	3	1	2	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117819616G>A	ENST00000350763.4	-	15	4806	c.4395C>T	c.(4393-4395)ttC>ttT	p.F1465F	TNC_ENST00000340094.3_Silent_p.F1101F|TNC_ENST00000535648.1_Silent_p.F1101F|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Intron|TNC_ENST00000341037.4_Silent_p.F1374F|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Silent_p.F1101F|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1465	Fibronectin type-III 10.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TAAAGGTCTCGAAGATCCCAT	0.423													A	117819616	G	A	117819616	2	1	364	1	0	0	0	0	0	0	0	1	16370	1049	37	1		1	TNC	9	117819616	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22026	117819616	23393815	7484	30986											
TNC	3371	broad.mit.edu	37	chr9	117825213	117825213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtgacgacctctacaGcaaggggtcgagtgctgtgg	8	9	14	10	2	1	1	0	1	1	0	2	3	1	1	2	3	4	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117825213G>A	ENST00000350763.4	-	13	4427	c.4016C>T	c.(4015-4017)gCt>gTt	p.A1339V	TNC_ENST00000340094.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1339V|TNC_ENST00000341037.4_Intron|TNC_ENST00000346706.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000345230.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1339	Fibronectin type-III 8.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GACCTCTACAGCAAGGGGTCG	0.567													A	117825213	G	A	117825213	3	1	364	1	0	0	0	0	1	0	0	0	16370	971	34	2	2653	2	TNC	9	117825213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5597	117825213	23388218	7485	30987											
TNC	3371	broad.mit.edu	37	chr9	117840388	117840388	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcacgtctttgatgccgtaGgtcagctcaatgccatcgat	8	11	11	11	3	3	1	2	1	1	0	4	2	3	1	2	2	3	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:117840388G>T	ENST00000350763.4	-	7	2919	c.2508C>A	c.(2506-2508)acC>acA	p.T836T	TNC_ENST00000340094.3_Silent_p.T836T|TNC_ENST00000535648.1_Silent_p.T836T|TNC_ENST00000537320.1_Silent_p.T836T|TNC_ENST00000423613.2_Silent_p.T836T|TNC_ENST00000341037.4_Silent_p.T836T|TNC_ENST00000346706.3_Silent_p.T836T|TNC_ENST00000542877.1_Silent_p.T836T|TNC_ENST00000345230.3_Silent_p.T836T	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	836	Fibronectin type-III 3.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TGATGCCGTAGGTCAGCTCAA	0.557													T	117840388	G	T	117840388	2	4	364	1	0	0	0	0	0	0	0	1	16370	987	35	4		4	TNC	9	117840388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15175	117840388	23373043	7486	30988											
PAPPA	5069	broad.mit.edu	37	chr9	119065179	119065179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcttcagtatctcatcaaGaccagcaatgcccaggctgg	11	9	9	12	0	3	1	3	0	1	1	4	1	3	1	2	2	3	4	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119065179G>A	ENST00000328252.3	+	10	3466	c.3097G>A	c.(3097-3099)Gac>Aac	p.D1033N	RP11-45A16.4_ENST00000451100.1_RNA|PAPPA_ENST00000534838.1_Missense_Mutation_p.D71N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1033					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATCTCATCAAGACCAGCAATG	0.507													A	119065179	G	A	119065179	3	1	364	1	0	0	0	0	1	0	0	0	11508	942	33	2	3135	2	PAPPA	9	119065179	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1224791	119065179	22148252	7487	30989											
PAPPA	5069	broad.mit.edu	37	chr9	119093569	119093569	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaggcatttcccagcAtgcctggtacccttgcacca	9	9	9	14	0	0	1	0	1	0	0	1	1	1	1	4	2	4	4	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119093569A>C	ENST00000328252.3	+	11	3563	c.3194A>C	c.(3193-3195)cAt>cCt	p.H1065P	PAPPA_ENST00000534838.1_Missense_Mutation_p.H103P	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1065					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						ATTTCCCAGCATGCCTGGTAC	0.453													C	119093569	A	C	119093569	3	2	364	1	0	0	0	0	1	0	0	0	11508	217	8	5	3236	5	PAPPA	9	119093569	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28390	119093569	22119862	7488	30990											
TRIM32	22954	broad.mit.edu	37	chr9	119461189	119461189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtactagtcgctgacCgtggtaactatcgtatacaa	12	11	10	8	3	0	2	0	2	0	0	2	2	0	2	1	1	3	4	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:119461189C>T	ENST00000450136.1	+	2	1329	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C	ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R390C|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	390					fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AGTCGCTGACCGTGGTAACTA	0.493													T	119461189	C	T	119461189	3	4	364	1	0	0	0	0	1	0	0	0	16607	652	23	1	1170	1	TRIM32	9	119461189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367620	119461189	21752242	7489	30991											
MEGF9	1955	broad.mit.edu	37	chr9	123370192	123370192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attggcactttctacagatgCtgtcaaaattgtaatagcca	13	13	7	8	0	2	1	1	0	1	1	2	1	2	1	1	1	3	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123370192C>T	ENST00000373930.3	-	5	1295	c.1184G>A	c.(1183-1185)aGc>aAc	p.S395N	MEGF9_ENST00000426959.1_Missense_Mutation_p.S432N	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	395	Laminin EGF-like 4.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TCTACAGATGCTGTCAAAATT	0.428													T	123370192	C	T	123370192	3	4	364	1	0	0	0	0	1	0	0	0	9539	797	28	2	632	2	MEGF9	9	123370192	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3909003	123370192	17843239	7490	30992											
C5	727	broad.mit.edu	37	chr9	123722524	123722524	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatattgaacttttgaactcAccatatgcaatctctggttt	11	17	5	8	0	2	2	1	2	1	0	3	2	2	2	1	1	3	2	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123722524A>G	ENST00000223642.1	-	38	4708		c.e38+1			NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5						activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TTTTGAACTCACCATATGCAA	0.323													G	123722524	A	G	123722524	5	3	364	1	0	0	0	0	0	0	1	0	2302	173	6	3	366	3	C5	9	123722524	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	352332	123722524	17490907	7491	30993											
C5	727	broad.mit.edu	37	chr9	123732462	123732462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaccttcaatatcctgaGtatcgattttcaaataaaag	14	16	4	7	1	2	1	2	1	0	0	4	2	3	1	2	0	1	1	2	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123732462G>A	ENST00000223642.1	-	32	4177	c.4148C>T	c.(4147-4149)aCt>aTt	p.T1383I		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1383					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AATATCCTGAGTATCGATTTT	0.343													A	123732462	G	A	123732462	3	1	364	1	0	0	0	0	1	0	0	0	2302	1029	36	2	922	2	C5	9	123732462	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9938	123732462	17480969	7492	30994											
C5	727	broad.mit.edu	37	chr9	123744139	123744139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccaccagggggcatatatCgaaagcctttctaattccaa	13	10	7	11	1	1	0	0	0	1	0	3	1	2	0	4	2	2	1	4	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123744139C>T	ENST00000223642.1	-	27	3498	c.3469G>A	c.(3469-3471)Gat>Aat	p.D1157N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1157					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	GGGCATATATCGAAAGCCTTT	0.408													T	123744139	C	T	123744139	3	4	364	1	0	0	0	0	1	0	0	0	2302	884	31	1	1621	1	C5	9	123744139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11677	123744139	17469292	7493	30995											
C5	727	broad.mit.edu	37	chr9	123783855	123783855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctactccatcatcaacacGtgttacacttttgcttggat	10	14	6	11	1	2	0	2	0	0	0	3	1	3	1	1	1	5	3	1	1	3	5	rs148822412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123783855G>A	ENST00000223642.1	-	11	1263	c.1234C>T	c.(1234-1236)Cgt>Tgt	p.R412C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	412					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCATCAACACGTGTTACACTT	0.438													A	123783855	G	A	123783855	3	1	364	1	0	0	0	0	1	0	0	0	2302	1145	40	1	3920	1	C5	9	123783855	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39716	123783855	17429576	7494	30996											
C5	727	broad.mit.edu	37	chr9	123794416	123794416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttaacttcaaaatatgcGgttccagttgttgaaaagtc	12	15	7	7	1	2	1	1	1	1	0	4	1	3	1	1	1	2	3	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123794416G>A	ENST00000223642.1	-	6	671	c.642C>T	c.(640-642)acC>acT	p.T214T		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	214					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	CAAAATATGCGGTTCCAGTTG	0.323													A	123794416	G	A	123794416	2	1	364	1	0	0	0	0	0	0	0	1	2302	1103	39	1		1	C5	9	123794416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10561	123794416	17419015	7495	30997											
RAB14	51552	broad.mit.edu	37	chr9	123943691	123943691	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactagcagccacagccttCtctctggggttggggttcac	6	11	11	13	0	4	0	2	0	2	0	5	0	4	0	2	4	3	3	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123943691C>A	ENST00000373840.4	-	8	868	c.631G>T	c.(631-633)Gaa>Taa	p.E211*		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	211					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CCACAGCCTTCTCTCTGGGGT	0.532													A	123943691	C	A	123943691	4	1	364	1	0	0	0	0	0	1	0	0	12988	922	32	4	20	4	RAB14	9	123943691	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149275	123943691	17269740	7496	30998											
RAB14	51552	broad.mit.edu	37	chr9	123949285	123949285	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccagctgcttaagtggttAtatgtacttcttctgcaaaa	12	14	7	8	0	2	0	0	0	2	0	2	0	2	0	1	1	5	5	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123949285A>G	ENST00000373840.4	-	5	534	c.297T>C	c.(295-297)taT>taC	p.Y99Y		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	99					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TTAAGTGGTTATATGTACTTC	0.269													G	123949285	A	G	123949285	2	3	364	1	0	0	0	0	0	0	0	1	12988	456	16	3		3	RAB14	9	123949285	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5594	123949285	17264146	7497	30999											
RAB14	51552	broad.mit.edu	37	chr9	123952957	123952957	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttggccactaacttcGattattcttgtaccaaattc	10	18	4	9	1	1	0	0	0	1	0	3	1	1	0	2	1	2	1	2	1	4	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:123952957G>A	ENST00000373840.4	-	4	396	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_016322.3	NP_057406.2	P61106	RAB14_HUMAN	RAB14, member RAS oncogene family	53					embryo development|fibroblast growth factor receptor signaling pathway|Golgi to endosome transport|neurotransmitter secretion|protein transport|small GTPase mediated signal transduction	cytosol|early endosome membrane|Golgi membrane|Golgi stack|late endosome|lysosome|membrane fraction|nuclear outer membrane-endoplasmic reticulum membrane network|perinuclear region of cytoplasm|rough endoplasmic reticulum|trans-Golgi network transport vesicle	GDP binding|GTP binding|GTPase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						CACTAACTTCGATTATTCTTG	0.418													A	123952957	G	A	123952957	2	1	364	1	0	0	0	0	0	0	0	1	12988	1048	37	1		1	RAB14	9	123952957	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3672	123952957	17260474	7498	31000											
GSN	2934	broad.mit.edu	37	chr9	124079496	124079496	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatctttgtctggaaaGgtactggagacagggaaagg	14	8	15	4	0	2	1	0	0	2	1	2	5	2	4	0	6	1	1	0	6	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124079496G>A	ENST00000373823.3	+	15	1791	c.886G>A	c.(886-888)Ggc>Agc	p.G296S	GSN_ENST00000449733.1_Splice_Site_p.G296S|GSN_ENST00000485767.1_3'UTR|GSN_ENST00000436847.1_Splice_Site_p.G307S|GSN_ENST00000373818.4_Splice_Site_p.G347S|GSN_ENST00000341272.2_Splice_Site_p.G296S|GSN_ENST00000545652.1_Splice_Site_p.G304S|GSN_ENST00000412819.1_Splice_Site_p.G296S|GSN_ENST00000394353.2_Splice_Site_p.G307S|GSN_ENST00000373808.2_Splice_Site_p.G296S|GSN_ENST00000373807.1_Splice_Site_p.G78S			P06396	GELS_HUMAN	gelsolin	347					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						TGTCTGGAAAGGTACTGGAGA	0.577													A	124079496	G	A	124079496	5	1	364	1	0	0	0	0	0	0	1	0	6880	1014	35	2	1093	2	GSN	9	124079496	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126539	124079496	17133935	7499	31001											
STOM	2040	broad.mit.edu	37	chr9	124111498	124111498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtgccaaaagacgggttGctgagtcagcgttggtgata	9	12	14	6	2	1	3	1	2	0	1	1	3	1	3	1	2	3	3	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124111498G>A	ENST00000286713.2	-	5	442	c.425C>T	c.(424-426)gCa>gTa	p.A142V	STOM_ENST00000538954.1_Missense_Mutation_p.A91V|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	142					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		AAGACGGGTTGCTGAGTCAGC	0.473													A	124111498	G	A	124111498	3	1	364	1	0	0	0	0	1	0	0	0	15408	1319	46	2	453	2	STOM	9	124111498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32002	124111498	17101933	7500	31002											
DAB2IP	153090	broad.mit.edu	37	chr9	124522547	124522547	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatccgcatcaaggcgcgCtaccaaaccatcaccatcct	12	7	6	16	3	2	1	2	1	0	0	4	1	4	1	5	1	2	2	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124522547C>T	ENST00000408936.3	+	6	1181	c.999C>T	c.(997-999)cgC>cgT	p.R333R	DAB2IP_ENST00000259371.2_Silent_p.R305R|DAB2IP_ENST00000309989.1_Silent_p.R209R			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	333					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						TCAAGGCGCGCTACCAAACCA	0.632													T	124522547	C	T	124522547	2	4	364	1	0	0	0	0	0	0	0	1	4253	784	28	2		2	DAB2IP	9	124522547	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411049	124522547	16690884	7501	31003											
DAB2IP	153090	broad.mit.edu	37	chr9	124525895	124525895	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattgaggagtacctcaagCtagtgggccagaagtacctg	11	8	12	10	0	1	2	1	1	0	1	1	3	1	3	4	2	3	3	4	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124525895C>T	ENST00000408936.3	+	7	1464	c.1282C>T	c.(1282-1284)Cta>Tta	p.L428L	DAB2IP_ENST00000259371.2_Silent_p.L400L|DAB2IP_ENST00000309989.1_Silent_p.L304L			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	428	Ras-GAP.				activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						GTACCTCAAGCTAGTGGGCCA	0.637													T	124525895	C	T	124525895	2	4	364	1	0	0	0	0	0	0	0	1	4253	796	28	2		2	DAB2IP	9	124525895	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3348	124525895	16687536	7502	31004											
MORN5	254956	broad.mit.edu	37	chr9	124936902	124936902	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaccgctttctaagaaaCgcaggtaggtttcttccgac	11	10	10	10	3	2	1	0	0	2	1	3	3	3	2	2	3	2	4	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:124936902C>T	ENST00000536616.1	+	4	473	c.435C>T	c.(433-435)aaC>aaT	p.N145N	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Silent_p.N145N			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	145								p.N145N(1)		endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						TTCTAAGAAACGCAGGTAGGT	0.448													T	124936902	C	T	124936902	2	4	364	1	0	0	0	0	0	0	0	1	9787	535	19	1		1	MORN5	9	124936902	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411007	124936902	16276529	7503	31005											
PTGS1	5742	broad.mit.edu	37	chr9	125154616	125154616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcccttttccctcaaGggtctcctagggaatcccat	6	11	10	14	0	2	0	1	0	1	0	6	1	5	1	4	4	0	1	4	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125154616G>T	ENST00000362012.2	+	11	1598	c.1593G>T	c.(1591-1593)aaG>aaT	p.K531N	PTGS1_ENST00000223423.4_Missense_Mutation_p.K494N|PTGS1_ENST00000373698.5_Missense_Mutation_p.K422N|PTGS1_ENST00000540753.1_Missense_Mutation_p.K469N	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	531					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	TTTCCCTCAAGGGTCTCCTAG	0.512													T	125154616	G	T	125154616	3	4	364	1	0	0	0	0	1	0	0	0	12841	991	35	4	1635	4	PTGS1	9	125154616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217714	125154616	16058815	7504	31006											
OR1J1	347168	broad.mit.edu	37	chr9	125239577	125239577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaggatgcacaggaatGgaagcataatggctgtcaat	16	7	11	7	0	1	0	1	0	0	0	1	3	1	3	1	4	3	3	1	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125239577G>A	ENST00000259357.2	-	1	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L		NM_001004451.1	NP_001004451.1	Q8NGS3	OR1J1_HUMAN	olfactory receptor, family 1, subfamily J, member 1	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	16						GCACAGGAATGGAAGCATAAT	0.493													A	125239577	G	A	125239577	3	1	364	1	0	0	0	0	1	0	0	0	11035	1348	47	2	342	2	OR1J1	9	125239577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84961	125239577	15973854	7505	31007											
OR1J2	26740	broad.mit.edu	37	chr9	125273822	125273822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggctcccatctctctgtgGtgtctctctattatgggtca	4	16	10	11	0	5	0	1	0	4	0	8	0	6	0	1	3	0	1	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125273822G>A	ENST00000335302.5	+	1	742	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TCTCTCTGTGGTGTCTCTCTA	0.488													A	125273822	G	A	125273822	3	1	364	1	0	0	0	0	1	0	0	0	11036	1261	44	2	744	2	OR1J2	9	125273822	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34245	125273822	15939609	7506	31008											
OR1N1	138883	broad.mit.edu	37	chr9	125289054	125289054	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtcacagaaaaagtgAgcaatttccccagtcacaca	15	8	8	10	0	2	3	2	2	0	1	3	3	3	3	2	0	1	1	2	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125289054A>G	ENST00000304880.2	-	1	518	c.519T>C	c.(517-519)gcT>gcC	p.A173A		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						AGAAAAAGTGAGCAATTTCCC	0.502													G	125289054	A	G	125289054	2	3	364	1	0	0	0	0	0	0	0	1	11045	291	11	3		3	OR1N1	9	125289054	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15232	125289054	15924377	7507	31009											
OR1N2	138882	broad.mit.edu	37	chr9	125315826	125315826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctccttatgtttggtggCcttgacaactgcctgctggc	4	15	10	12	0	0	1	0	1	0	0	2	1	2	1	4	3	3	2	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125315826C>T	ENST00000373688.2	+	1	436	c.378C>T	c.(376-378)ggC>ggT	p.G126G		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						TGTTTGGTGGCCTTGACAACT	0.507													T	125315826	C	T	125315826	2	4	364	1	0	0	0	0	0	0	0	1	11046	726	26	2		2	OR1N2	9	125315826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26772	125315826	15897605	7508	31010											
OR1Q1	158131	broad.mit.edu	37	chr9	125377139	125377139	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgcaatcaatatttctggCaacttggccatcatcacact	12	12	5	12	1	4	0	3	0	1	0	4	0	4	0	1	2	2	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125377139C>T	ENST00000297913.2	+	1	192	c.123C>T	c.(121-123)ggC>ggT	p.G41G	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	41					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						ATATTTCTGGCAACTTGGCCA	0.478													T	125377139	C	T	125377139	2	4	364	1	0	0	0	0	0	0	0	1	11047	697	25	2		2	OR1Q1	9	125377139	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61313	125377139	15836292	7509	31011											
OR1L3	26735	broad.mit.edu	37	chr9	125437648	125437648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacagtcatagtcccaaaGatgctcgtgaacttcttatc	13	11	6	11	1	2	2	1	1	1	1	5	2	3	2	1	0	3	1	1	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437648G>T	ENST00000304820.2	+	1	334	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TAGTCCCAAAGATGCTCGTGA	0.388													T	125437648	G	T	125437648	3	4	364	1	0	0	0	0	1	0	0	0	11040	933	33	4	242	4	OR1L3	9	125437648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60509	125437648	15775783	7510	31012											
OR1L3	26735	broad.mit.edu	37	chr9	125437739	125437739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtttttggaaacataGatagttatctcctggcggct	8	15	10	8	1	1	1	0	0	1	1	3	2	2	2	2	4	1	3	2	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125437739G>T	ENST00000304820.2	+	1	425	c.331G>T	c.(331-333)Gat>Tat	p.D111Y		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	111					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						TGGAAACATAGATAGTTATCT	0.433													T	125437739	G	T	125437739	3	4	364	1	0	0	0	0	1	0	0	0	11040	942	33	4	333	4	OR1L3	9	125437739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91	125437739	15775692	7511	31013											
OR1L4	254973	broad.mit.edu	37	chr9	125486357	125486357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcagaaacctctctttgCcatcttcctcatcatgtacc	8	13	5	15	0	4	1	2	0	2	1	6	1	5	1	4	0	4	3	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125486357C>T	ENST00000259466.1	+	1	89	c.89C>T	c.(88-90)gCc>gTc	p.A30V		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCTCTCTTTGCCATCTTCCTC	0.507													T	125486357	C	T	125486357	3	4	364	1	0	0	0	0	1	0	0	0	11041	739	26	2	91	2	OR1L4	9	125486357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48618	125486357	15727074	7512	31014											
OR1K1	392392	broad.mit.edu	37	chr9	125563230	125563230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggccgtgtggccactGtcatgtacactgtagtcacc	7	10	13	11	1	2	0	2	0	0	0	2	0	2	0	3	3	1	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125563230G>A	ENST00000277309.2	+	1	861	c.829G>A	c.(829-831)Gtc>Atc	p.V277I		NM_080859.1	NP_543135.1	Q8NGR3	OR1K1_HUMAN	olfactory receptor, family 1, subfamily K, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(8)|lung(2)|ovary(1)|skin(4)|stomach(1)	17						TGTGGCCACTGTCATGTACAC	0.592													A	125563230	G	A	125563230	3	1	364	1	0	0	0	0	1	0	0	0	11038	1377	48	2	831	2	OR1K1	9	125563230	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76873	125563230	15650201	7513	31015											
RC3H2	54542	broad.mit.edu	37	chr9	125618095	125618095	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcctatggtgccacaagaCcagggagaataatgggaaag	15	5	14	7	0	0	2	0	0	0	2	0	5	0	3	3	3	2	0	3	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125618095C>T	ENST00000373670.1	-	13	3117	c.2517G>A	c.(2515-2517)tgG>tgA	p.W839*	RC3H2_ENST00000423239.2_Nonsense_Mutation_p.W839*|RC3H2_ENST00000357244.2_Nonsense_Mutation_p.W839*			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	839						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						TGCCACAAGACCAGGGAGAAT	0.368													T	125618095	C	T	125618095	4	4	364	1	0	0	0	0	0	1	0	0	13255	508	18	2	1168	2	RC3H2	9	125618095	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54865	125618095	15595336	7514	31016											
RABGAP1	23637	broad.mit.edu	37	chr9	125719414	125719414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttaatagtgaagattttGtcttggtttccaggcaagga	10	15	10	6	0	2	2	0	1	2	1	3	3	3	3	1	3	0	2	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125719414G>A	ENST00000373647.4	+	2	210	c.76G>A	c.(76-78)Gtc>Atc	p.V26I		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	26					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						TGAAGATTTTGTCTTGGTTTC	0.383													A	125719414	G	A	125719414	3	1	364	1	0	0	0	0	1	0	0	0	13052	1377	48	2	78	2	RABGAP1	9	125719414	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101319	125719414	15494017	7515	31017											
RABGAP1	23637	broad.mit.edu	37	chr9	125746809	125746809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcaaaaagagctagcaGatgtactgatggatcctcca	14	8	10	9	0	0	3	0	1	0	2	2	4	2	4	2	1	5	5	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125746809G>T	ENST00000373647.4	+	3	330	c.196G>T	c.(196-198)Gat>Tat	p.D66Y		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	66					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						AGAGCTAGCAGATGTACTGAT	0.458													T	125746809	G	T	125746809	3	4	364	1	0	0	0	0	1	0	0	0	13052	942	33	4	202	4	RABGAP1	9	125746809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27395	125746809	15466622	7516	31018											
RABGAP1	23637	broad.mit.edu	37	chr9	125748528	125748528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctttcacaccagtggcCgatgaggacagcgtagtttt	9	11	11	10	2	1	1	1	1	0	0	2	3	2	2	3	2	1	2	3	2	1	4	rs151226317		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125748528C>T	ENST00000373647.4	+	4	554	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	140					cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						CACCAGTGGCCGATGAGGACA	0.413													T	125748528	C	T	125748528	2	4	364	1	0	0	0	0	0	0	0	1	13052	639	23	1		1	RABGAP1	9	125748528	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1719	125748528	15464903	7517	31019											
RABGAP1	23637	broad.mit.edu	37	chr9	125751629	125751629	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactaccctatctacaaaaTcctcttctgtgtcagagggc	12	11	6	12	0	4	1	1	0	3	1	5	1	5	1	2	1	3	0	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125751629T>G	ENST00000373647.4	+	5	778	c.644T>G	c.(643-645)aTc>aGc	p.I215S		NM_012197.3	NP_036329.3	Q9Y3P9	RBGP1_HUMAN	RAB GTPase activating protein 1	215	PID.				cell cycle	centrosome|cytosol|microtubule associated complex	Rab GTPase activator activity|tubulin binding			breast(3)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|prostate(4)|stomach(3)|upper_aerodigestive_tract(1)	41						ATCTACAAAATCCTCTTCTGT	0.393													G	125751629	T	G	125751629	3	3	364	1	0	0	0	0	1	0	0	0	13052	1435	50	5	658	5	RABGAP1	9	125751629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3101	125751629	15461802	7518	31020											
GPR21	2844	broad.mit.edu	37	chr9	125797635	125797635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactagtgtattttacatcCtctggttgccatatatcatc	9	17	5	10	0	3	0	2	0	1	0	5	0	4	0	2	1	2	2	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:125797635C>A	ENST00000373642.1	+	1	830	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	264						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ATTTTACATCCTCTGGTTGCC	0.507													A	125797635	C	A	125797635	3	1	364	1	0	0	0	0	1	0	0	0	6735	681	24	4	792	4	GPR21	9	125797635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46006	125797635	15415796	7519	31021											
CRB2	286204	broad.mit.edu	37	chr9	126125293	126125293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgccaccacggcgctctgTgtgtgccccagggtccagat	6	8	12	15	2	1	1	0	0	1	1	2	1	2	1	5	2	2	1	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125293T>C	ENST00000373631.3	+	2	245	c.244T>C	c.(244-246)Tgt>Cgt	p.C82R	CRB2_ENST00000359999.3_Missense_Mutation_p.C82R	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	82	EGF-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGGCGCTCTGTGTGTGCCCCA	0.677													C	126125293	T	C	126125293	3	2	364	1	0	0	0	0	1	0	0	0	3880	1696	59	3	250	3	CRB2	9	126125293	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	327658	126125293	15088138	7520	31022											
CRB2	286204	broad.mit.edu	37	chr9	126125435	126125435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgcaacctggccgatcGctacgagtgccattgccccc	6	7	10	18	4	0	0	0	0	0	0	1	2	0	0	6	1	5	2	6	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126125435G>A	ENST00000373631.3	+	2	387	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CRB2_ENST00000359999.3_Missense_Mutation_p.R129H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	129	EGF-like 2; calcium-binding (Potential).					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGGCCGATCGCTACGAGTGC	0.642													A	126125435	G	A	126125435	3	1	364	1	0	0	0	0	1	0	0	0	3880	1087	38	1	392	1	CRB2	9	126125435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142	126125435	15087996	7521	31023											
CRB2	286204	broad.mit.edu	37	chr9	126132729	126132729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtctggcactgaggtttcGcaccacactgcccgctggga	6	8	14	13	2	1	1	0	1	1	0	2	2	1	2	2	4	1	4	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126132729G>A	ENST00000373631.3	+	7	1398	c.1397G>A	c.(1396-1398)cGc>cAc	p.R466H	CRB2_ENST00000373629.2_Missense_Mutation_p.R134H|CRB2_ENST00000359999.3_Missense_Mutation_p.R466H	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	466	Laminin G-like 1.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CTGAGGTTTCGCACCACACTG	0.612													A	126132729	G	A	126132729	3	1	364	1	0	0	0	0	1	0	0	0	3880	1087	38	1	1423	1	CRB2	9	126132729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7294	126132729	15080702	7522	31024											
DENND1A	57706	broad.mit.edu	37	chr9	126146102	126146102	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagggggagctgggacaggGcctgtggacttccgcacttg	6	8	17	10	1	1	0	1	0	0	0	2	3	2	3	2	5	1	2	2	5	0	2	rs145330954	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126146102G>A	ENST00000373624.2	-	21	1869	c.1668C>T	c.(1666-1668)ggC>ggT	p.G556G	DENND1A_ENST00000542603.1_Silent_p.G341G|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394219.3_Silent_p.G567G	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	556						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						CTGGGACAGGGCCTGTGGACT	0.657													A	126146102	G	A	126146102	2	1	364	1	0	0	0	0	0	0	0	1	4465	1190	42	2		2	DENND1A	9	126146102	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13373	126146102	15067329	7523	31025											
DENND1A	57706	broad.mit.edu	37	chr9	126371738	126371738	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaacttaaatggattcCtatgaggtagggcatgggag	13	11	12	5	0	0	1	0	1	0	0	1	3	1	3	1	4	1	2	1	4	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126371738C>A	ENST00000373624.2	-	11	943	c.742G>T	c.(742-744)Gga>Tga	p.G248*	DENND1A_ENST00000542603.1_Nonsense_Mutation_p.G32*|DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Nonsense_Mutation_p.G218*|DENND1A_ENST00000394219.3_Nonsense_Mutation_p.G216*|DENND1A_ENST00000373618.1_Nonsense_Mutation_p.G216*|DENND1A_ENST00000373620.3_Nonsense_Mutation_p.G248*	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	248	DENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						AAATGGATTCCTATGAGGTAG	0.458													A	126371738	C	A	126371738	4	1	364	1	0	0	0	0	0	1	0	0	4465	690	24	4	2442	4	DENND1A	9	126371738	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	225636	126371738	14841693	7524	31026											
DENND1A	57706	broad.mit.edu	37	chr9	126520032	126520032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagataagcggcagaacccGaatctctgtttgctgtcaat	12	10	10	9	2	2	2	1	0	1	2	3	4	2	2	1	1	3	3	1	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:126520032G>A	ENST00000373624.2	-	5	453	c.252C>T	c.(250-252)ttC>ttT	p.F84F	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000394215.2_Silent_p.F54F|DENND1A_ENST00000394219.3_Silent_p.F52F|DENND1A_ENST00000373618.1_Silent_p.F52F|DENND1A_ENST00000373620.3_Silent_p.F84F	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	84	UDENN.					cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GGCAGAACCCGAATCTCTGTT	0.493													A	126520032	G	A	126520032	2	1	364	1	0	0	0	0	0	0	0	1	4465	1049	37	1		1	DENND1A	9	126520032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148294	126520032	14693399	7525	31027											
NR5A1	2516	broad.mit.edu	37	chr9	127245118	127245118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgcttgtggtacaggtaCtccttggcctgcatgctcag	6	12	13	10	0	1	0	1	0	0	0	2	0	2	0	2	4	5	5	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127245118C>A	ENST00000373588.4	-	7	1501	c.1305G>T	c.(1303-1305)gaG>gaT	p.E435D		NM_004959.4	NP_004950.2	Q13285	STF1_HUMAN	nuclear receptor subfamily 5, group A, member 1	435	Important for dimerization.				cell-cell signaling|male gonad development|positive regulation of transcription from RNA polymerase II promoter|primary sex determination|regulation of steroid biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|phospholipid binding|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			lung(1)|upper_aerodigestive_tract(1)	2						GGTACAGGTACTCCTTGGCCT	0.627													A	127245118	C	A	127245118	3	1	364	1	0	0	0	0	1	0	0	0	10711	564	20	4	84	4	NR5A1	9	127245118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	725086	127245118	13968313	7526	31028											
NR6A1	2649	broad.mit.edu	37	chr9	127298239	127298239	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgctgtaaacggtgaGggaagacagcaggattagct	11	9	14	7	1	0	2	0	1	0	1	0	4	0	4	0	3	5	5	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127298239G>T	ENST00000487099.2	-	7	1154	c.997C>A	c.(997-999)Ctc>Atc	p.L333I	NR6A1_ENST00000373584.3_Missense_Mutation_p.L329I|NR6A1_ENST00000344523.4_Missense_Mutation_p.L332I|NR6A1_ENST00000416460.2_Missense_Mutation_p.L328I	NM_001278546.1	NP_001265475.1	Q15406	NR6A1_HUMAN	nuclear receptor subfamily 6, group A, member 1	333					cell proliferation|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	transcription factor complex	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(1)|cervix(1)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	17						TAAACGGTGAGGGAAGACAGC	0.532													T	127298239	G	T	127298239	3	4	364	1	0	0	0	0	1	0	0	0	10713	1000	35	4	461	4	NR6A1	9	127298239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53121	127298239	13915192	7527	31029											
RPL35	11224	broad.mit.edu	37	chr9	127620260	127620260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgctgctgcttcttggtCttcaggttctcctcgtgctt	1	18	9	13	2	4	0	1	0	3	0	7	0	5	0	2	2	3	5	2	2	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127620260C>A	ENST00000348462.3	-	4	357	c.309G>T	c.(307-309)aaG>aaT	p.K103N	RPL35_ENST00000373570.4_3'UTR	NM_007209.3	NP_009140.1	P42766	RL35_HUMAN	ribosomal protein L35	103					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCTTCTTGGTCTTCAGGTTCT	0.607													A	127620260	C	A	127620260	3	1	364	1	0	0	0	0	1	0	0	0	13675	912	32	4	66	4	RPL35	9	127620260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322021	127620260	13593171	7528	31030											
GOLGA1	2800	broad.mit.edu	37	chr9	127674201	127674201	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcaggagttcttgcaaGtgttcttctcctgataagtt	7	18	8	8	0	5	1	1	1	4	0	6	2	5	2	1	1	1	4	1	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127674201G>A	ENST00000373555.4	-	11	1281	c.948C>T	c.(946-948)caC>caT	p.H316H		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	316						Golgi cisterna membrane				NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						GTTCTTGCAAGTGTTCTTCTC	0.438													A	127674201	G	A	127674201	2	1	364	1	0	0	0	0	0	0	0	1	6607	1020	36	2		2	GOLGA1	9	127674201	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53941	127674201	13539230	7529	31031											
SCAI	286205	broad.mit.edu	37	chr9	127765751	127765751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaagaggagattacctgCattcctggtttattcatctg	11	14	9	7	0	2	2	1	0	1	2	3	3	3	2	2	2	2	3	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127765751C>T	ENST00000336505.6	-	10	1018	c.960G>A	c.(958-960)atG>atA	p.M320I	SCAI_ENST00000373549.4_Missense_Mutation_p.M343I|SCAI_ENST00000487795.1_5'UTR	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						AGATTACCTGCATTCCTGGTT	0.423													T	127765751	C	T	127765751	3	4	364	1	0	0	0	0	1	0	0	0	13961	710	25	2	896	2	SCAI	9	127765751	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91550	127765751	13447680	7530	31032											
RABEPK	10244	broad.mit.edu	37	chr9	127990304	127990304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggaggcttggcgggggaCagattctatgatgacctcca	9	8	14	10	2	1	3	0	2	1	1	2	5	2	5	2	5	0	1	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:127990304C>T	ENST00000373538.3	+	6	952	c.642C>T	c.(640-642)gaC>gaT	p.D214D	RABEPK_ENST00000259460.8_Silent_p.D163D|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000394125.4_Silent_p.D214D	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	214					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						TGGCGGGGGACAGATTCTATG	0.453													T	127990304	C	T	127990304	2	4	364	1	0	0	0	0	0	0	0	1	13051	477	17	2		2	RABEPK	9	127990304	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224553	127990304	13223127	7531	31033											
GAPVD1	26130	broad.mit.edu	37	chr9	128124975	128124975	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagtcctattggtggatgCagttcacagcagcagtagaa	12	9	13	7	0	1	1	1	0	0	1	2	3	2	3	1	3	3	5	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128124975C>T	ENST00000470056.1	+	25	4412	c.4252C>T	c.(4252-4254)Cag>Tag	p.Q1418*	GAPVD1_ENST00000394083.2_Nonsense_Mutation_p.Q1397*|GAPVD1_ENST00000394104.2_Nonsense_Mutation_p.Q1463*|GAPVD1_ENST00000312123.9_Nonsense_Mutation_p.Q1424*|GAPVD1_ENST00000297933.6_Nonsense_Mutation_p.Q1445*|GAPVD1_ENST00000265956.4_Nonsense_Mutation_p.Q1437*|GAPVD1_ENST00000495955.1_Nonsense_Mutation_p.Q1463*|GAPVD1_ENST00000394105.2_Nonsense_Mutation_p.Q1472*			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1463	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TTGGTGGATGCAGTTCACAGC	0.458													T	128124975	C	T	128124975	4	4	364	1	0	0	0	0	0	1	0	0	6293	711	25	2	4516	2	GAPVD1	9	128124975	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134671	128124975	13088456	7532	31034											
MAPKAP1	79109	broad.mit.edu	37	chr9	128305420	128305420	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgtgttgtccacctgAataagggagaatccatgagc	11	11	10	9	0	0	3	0	2	0	1	2	4	2	3	4	1	1	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:128305420A>G	ENST00000265960.3	-	7	1208	c.876T>C	c.(874-876)atT>atC	p.I292I	MAPKAP1_ENST00000350766.3_Silent_p.I292I|MAPKAP1_ENST00000373503.3_Silent_p.I100I|MAPKAP1_ENST00000373511.2_Silent_p.I292I|MAPKAP1_ENST00000373497.5_Silent_p.I41I|MAPKAP1_ENST00000373498.1_Silent_p.I292I|MAPKAP1_ENST00000394060.3_Silent_p.I292I|MAPKAP1_ENST00000394063.1_Silent_p.I100I	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	292					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						TGTCCACCTGAATAAGGGAGA	0.393													G	128305420	A	G	128305420	2	3	364	1	0	0	0	0	0	0	0	1	9363	242	9	3		3	MAPKAP1	9	128305420	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	180445	128305420	12908011	7533	31035											
ZBTB43	23099	broad.mit.edu	37	chr9	129596169	129596169	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaagctgcaaaggctgagCagaatacaactgaggctaac	16	5	11	9	1	0	3	0	2	0	1	0	4	0	3	0	2	6	5	0	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129596169C>T	ENST00000373464.4	+	3	1645	c.1381C>T	c.(1381-1383)Cag>Tag	p.Q461*	ZBTB43_ENST00000449886.1_Nonsense_Mutation_p.Q461*|ZBTB43_ENST00000373457.1_Nonsense_Mutation_p.Q461*	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	461					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AAAGGCTGAGCAGAATACAAC	0.428													T	129596169	C	T	129596169	4	4	364	1	0	0	0	0	0	1	0	0	17645	711	25	2	1383	2	ZBTB43	9	129596169	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1290749	129596169	11617262	7534	31036											
ZBTB34	403341	broad.mit.edu	37	chr9	129643140	129643140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgcatcggcctcagagAtgggcctagattcccggatg	9	8	13	11	3	1	3	1	1	0	2	3	5	2	4	3	3	0	1	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129643140A>G	ENST00000319119.4	+	2	1547	c.1462A>G	c.(1462-1464)Atg>Gtg	p.M488V	ZBTB34_ENST00000373452.2_Missense_Mutation_p.M484V	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GGCCTCAGAGATGGGCCTAGA	0.483													G	129643140	A	G	129643140	3	3	364	1	0	0	0	0	1	0	0	0	17638	333	12	3	1452	3	ZBTB34	9	129643140	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46971	129643140	11570291	7535	31037											
ANGPTL2	23452	broad.mit.edu	37	chr9	129870903	129870903	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttaggtaaatgaactcTcttggcgagccctcctcagt	8	13	9	11	1	2	1	1	1	1	0	4	2	3	1	2	2	2	2	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129870903T>C	ENST00000373425.3	-	2	725	c.108A>G	c.(106-108)agA>agG	p.R36R	RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000259351.5_Intron|ANGPTL2_ENST00000373417.1_Intron|RALGPS1_ENST00000394022.3_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	36					multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						AAATGAACTCTCTTGGCGAGC	0.607													C	129870903	T	C	129870903	2	2	364	1	0	0	0	0	0	0	0	1	614	1548	54	3		3	ANGPTL2	9	129870903	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	227763	129870903	11342528	7536	31038											
RALGPS1	9649	broad.mit.edu	37	chr9	129937013	129937013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgtcgctcagaatcgaaCcaggaagcagctctccaaga	13	6	10	12	2	2	2	1	0	1	2	5	5	2	3	2	1	3	3	2	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:129937013C>T	ENST00000259351.5	+	11	1129	c.862C>T	c.(862-864)Cca>Tca	p.P288S	RALGPS1_ENST00000373436.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000424082.2_Missense_Mutation_p.P288S|RALGPS1_ENST00000373434.1_Missense_Mutation_p.P288S|RALGPS1_ENST00000394022.3_Missense_Mutation_p.P288S	NM_014636.2	NP_055451.1	Q5JS13	RGPS1_HUMAN	Ral GEF with PH domain and SH3 binding motif 1	288	Ras-GEF.				small GTPase mediated signal transduction	cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			kidney(2)|large_intestine(6)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGAATCGAACCAGGAAGCAG	0.468													T	129937013	C	T	129937013	3	4	364	1	0	0	0	0	1	0	0	0	13105	507	18	2	900	2	RALGPS1	9	129937013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66110	129937013	11276418	7537	31039											
GARNL3	84253	broad.mit.edu	37	chr9	130027191	130027191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaaggtttgtggccaGatcgctatgtataatactga	11	13	11	6	1	0	3	0	1	0	2	1	3	0	3	1	2	2	4	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130027191G>T	ENST00000373387.4	+	1	387	c.35G>T	c.(34-36)aGa>aTa	p.R12I	GARNL3_ENST00000314904.5_Missense_Mutation_p.R12I|GARNL3_ENST00000435213.2_Intron	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	12					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TTTGTGGCCAGATCGCTATGT	0.478													T	130027191	G	T	130027191	3	4	364	1	0	0	0	0	1	0	0	0	6295	942	33	4	37	4	GARNL3	9	130027191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90178	130027191	11186240	7538	31040											
GARNL3	84253	broad.mit.edu	37	chr9	130083004	130083004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttcagtgccatgaatCtggacaaatttgagaaaggc	13	12	9	7	0	3	2	1	2	2	1	3	4	3	3	1	2	1	0	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130083004C>A	ENST00000373387.4	+	6	866	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	GARNL3_ENST00000314904.5_Missense_Mutation_p.L172M|GARNL3_ENST00000435213.2_Missense_Mutation_p.L150M	NM_032293.4	NP_115669.3	Q5VVW2	GARL3_HUMAN	GTPase activating Rap/RanGAP domain-like 3	172					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity|small GTPase regulator activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(24)|ovary(1)|skin(1)|urinary_tract(2)	41						TGCCATGAATCTGGACAAATT	0.378													A	130083004	C	A	130083004	3	1	364	1	0	0	0	0	1	0	0	0	6295	912	32	4	536	4	GARNL3	9	130083004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55813	130083004	11130427	7539	31041											
ZNF79	7633	broad.mit.edu	37	chr9	130207444	130207444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggtgcagctctgccttcGttagacatcagagactccac	8	10	9	14	2	2	2	1	0	1	2	5	3	4	2	3	1	3	3	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130207444G>A	ENST00000342483.5	+	5	1871	c.1465G>A	c.(1465-1467)Gtt>Att	p.V489I	ZNF79_ENST00000543471.1_Missense_Mutation_p.V465I	NM_007135.2	NP_009066.2	Q15937	ZNF79_HUMAN	zinc finger protein 79	489					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|stomach(2)	28						CTCTGCCTTCGTTAGACATCA	0.557													A	130207444	G	A	130207444	3	1	364	1	0	0	0	0	1	0	0	0	18260	1145	40	1	1483	1	ZNF79	9	130207444	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124440	130207444	11005987	7540	31042											
LRSAM1	90678	broad.mit.edu	37	chr9	130259537	130259537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaactgtcacaggtgggCgtctcagaagctggcctgca	8	9	13	11	1	2	2	2	1	1	1	3	2	2	2	1	3	3	2	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130259537C>T	ENST00000323301.4	+	23	2440	c.1836C>T	c.(1834-1836)ggC>ggT	p.G612G	LRSAM1_ENST00000373322.1_Silent_p.G612G|LRSAM1_ENST00000373324.4_Silent_p.G585G|LRSAM1_ENST00000300417.6_Silent_p.G612G|LRSAM1_ENST00000483302.1_3'UTR	NM_138361.5	NP_612370.3	Q6UWE0	LRSM1_HUMAN	leucine rich repeat and sterile alpha motif containing 1	612	SAM.				negative regulation of endocytosis|non-lytic virus budding|protein autoubiquitination|protein catabolic process|protein polyubiquitination|protein transport|ubiquitin-dependent endocytosis	cytoplasm|extracellular region|membrane part	hormone activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(2)	16						CACAGGTGGGCGTCTCAGAAG	0.622													T	130259537	C	T	130259537	2	4	364	1	0	0	0	0	0	0	0	1	9113	755	27	1		1	LRSAM1	9	130259537	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52093	130259537	10953894	7541	31043											
STXBP1	6812	broad.mit.edu	37	chr9	130444731	130444731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggccccaggcgagtacCgcagtggcccccgcctcatc	8	4	11	18	3	1	0	1	0	0	0	2	1	1	0	6	3	1	2	6	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130444731C>T	ENST00000373302.3	+	18	1733	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	STXBP1_ENST00000481942.1_Intron|STXBP1_ENST00000373299.1_Missense_Mutation_p.R532C	NM_003165.3	NP_003156.1	P61764	STXB1_HUMAN	syntaxin binding protein 1	532					axon target recognition|energy reserve metabolic process|glutamate secretion|negative regulation of synaptic transmission, GABAergic|neurotransmitter secretion|platelet aggregation|platelet degranulation|protein transport|regulation of insulin secretion|regulation of synaptic vesicle priming|synaptic vesicle maturation|vesicle docking involved in exocytosis	cytosol|mitochondrion|plasma membrane|platelet alpha granule|protein complex	identical protein binding|syntaxin-1 binding|syntaxin-2 binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|skin(2)	23						AGGCGAGTACCGCAGTGGCCC	0.572													T	130444731	C	T	130444731	3	4	364	1	0	0	0	0	1	0	0	0	15448	652	23	1	1664	1	STXBP1	9	130444731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185194	130444731	10768700	7542	31044											
TTC16	158248	broad.mit.edu	37	chr9	130493461	130493461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgaagcaggggactgctccGaagttccaccaagactgagg	11	5	13	12	2	0	2	0	1	0	1	2	5	2	3	4	3	2	3	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493461G>A	ENST00000373289.3	+	14	2479	c.2399G>A	c.(2398-2400)cGa>cAa	p.R800Q	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	800							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						GGACTGCTCCGAAGTTCCACC	0.602													A	130493461	G	A	130493461	3	1	364	1	0	0	0	0	1	0	0	0	16785	1058	37	1	2453	1	TTC16	9	130493461	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48730	130493461	10719970	7543	31045											
TTC16	158248	broad.mit.edu	37	chr9	130493506	130493506	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgactcaaactggagccTcagcaaaactgagtatgccc	13	8	8	12	0	2	2	2	2	0	0	2	3	2	3	2	1	5	2	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130493506T>A	ENST00000373289.3	+	14	2524	c.2444T>A	c.(2443-2445)cTc>cAc	p.L815H	TTC16_ENST00000489226.1_3'UTR	NM_144965.1	NP_659402.1	Q8NEE8	TTC16_HUMAN	tetratricopeptide repeat domain 16	815							binding			central_nervous_system(2)|endometrium(3)|lung(7)|ovary(3)|pancreas(2)|prostate(4)|skin(1)	22						AACTGGAGCCTCAGCAAAACT	0.597													A	130493506	T	A	130493506	3	1	364	1	0	0	0	0	1	0	0	0	16785	1551	54	5	2498	5	TTC16	9	130493506	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45	130493506	10719925	7544	31046											
TOR2A	27433	broad.mit.edu	37	chr9	130495551	130495551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcggagggcactgggaaagCccagctaagcccatggggaa	11	3	17	10	1	0	0	0	0	0	0	0	3	0	3	2	6	3	2	2	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130495551C>T	ENST00000373281.5	-	3	729	c.706G>A	c.(706-708)Gct>Act	p.A236T	TOR2A_ENST00000373284.5_Intron|TOR2A_ENST00000472723.1_5'UTR|TOR2A_ENST00000336067.6_Intron|TOR2A_ENST00000458505.3_3'UTR	NM_130459.3	NP_569726.2	Q5JU69	TOR2A_HUMAN	torsin family 2, member A	0					chaperone mediated protein folding requiring cofactor	endoplasmic reticulum|extracellular region	ATP binding|nucleoside-triphosphatase activity			NS(1)|endometrium(2)	3						ACTGGGAAAGCCCAGCTAAGC	0.542													T	130495551	C	T	130495551	3	4	364	1	0	0	0	0	1	0	0	0	16476	739	26	2	440	2	TOR2A	9	130495551	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2045	130495551	10717880	7545	31047											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130653134	130653134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggcctcctcagcacgcgGaacacactggaatgggccac	9	5	13	14	2	1	0	1	0	0	0	2	2	2	2	3	5	2	1	3	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130653134G>A	ENST00000373146.1	-	5	665	c.486C>T	c.(484-486)ttC>ttT	p.F162F	ST6GALNAC6_ENST00000373142.1_Silent_p.F162F|ST6GALNAC6_ENST00000291839.5_Silent_p.F162F|ST6GALNAC6_ENST00000373141.1_Silent_p.F128F|ST6GALNAC6_ENST00000542456.1_Intron|ST6GALNAC6_ENST00000373144.3_Silent_p.F128F|ST6GALNAC6_ENST00000485320.1_5'UTR			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	162					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TCAGCACGCGGAACACACTGG	0.602													A	130653134	G	A	130653134	2	1	364	1	0	0	0	0	0	0	0	1	15324	1165	41	2		2	ST6GALNAC6	9	130653134	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157583	130653134	10560297	7546	31048											
SLC25A25	114789	broad.mit.edu	37	chr9	130868649	130868649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctgaagacccggatGgcgctgcggaagacaggcca	10	4	15	12	3	0	3	0	1	0	2	1	5	1	5	3	5	1	1	3	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130868649G>T	ENST00000373066.5	+	9	1427	c.1020G>T	c.(1018-1020)atG>atT	p.M340I	SLC25A25_ENST00000373069.5_Missense_Mutation_p.M354I|SLC25A25_ENST00000373068.2_Missense_Mutation_p.M342I|SLC25A25_ENST00000373064.5_Missense_Mutation_p.M308I|SLC25A25_ENST00000433501.1_Missense_Mutation_p.M205I|SLC25A25_ENST00000432073.2_Missense_Mutation_p.M328I	NM_001265614.2	NP_001252543.1	Q6KCM7	SCMC2_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 25	308					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)	10						AGACCCGGATGGCGCTGCGGA	0.657													T	130868649	G	T	130868649	3	4	364	1	0	0	0	0	1	0	0	0	14582	1348	47	4	1442	4	SLC25A25	9	130868649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215515	130868649	10344782	7547	31049											
CIZ1	25792	broad.mit.edu	37	chr9	130931346	130931346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctgcttgcagagttcCtcctcaacctcgatctcttc	7	12	6	16	1	2	1	1	0	1	1	7	2	4	1	4	0	4	4	4	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130931346C>T	ENST00000538431.1	-	15	2605	c.2358G>A	c.(2356-2358)gaG>gaA	p.E786E	CIZ1_ENST00000476727.2_5'UTR|CIZ1_ENST00000393608.1_Silent_p.E760E|CIZ1_ENST00000372954.1_Silent_p.E680E|CIZ1_ENST00000541172.1_Silent_p.E659E|CIZ1_ENST00000277465.4_Silent_p.E732E|CIZ1_ENST00000357558.5_Silent_p.E732E|CIZ1_ENST00000372938.5_Silent_p.E760E|CIZ1_ENST00000372948.3_Silent_p.E704E|CIZ1_ENST00000325721.8_Silent_p.E731E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	760						nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						TGCAGAGTtcctcctcaacct	0.582													T	130931346	C	T	130931346	2	4	364	1	0	0	0	0	0	0	0	1	3472	680	24	2		2	CIZ1	9	130931346	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62697	130931346	10282085	7548	31050											
CIZ1	25792	broad.mit.edu	37	chr9	130941595	130941595	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccagggcctcaggcagcagGtctggtgtctgtgtctgttt	4	13	14	10	0	4	0	1	0	3	0	5	0	5	0	2	4	1	3	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:130941595G>T	ENST00000538431.1	-	8	1138	c.891C>A	c.(889-891)gaC>gaA	p.D297E	CIZ1_ENST00000325721.8_Missense_Mutation_p.D268E|CIZ1_ENST00000476727.2_Intron|CIZ1_ENST00000393608.1_Missense_Mutation_p.D297E|CIZ1_ENST00000372948.3_Missense_Mutation_p.D297E|CIZ1_ENST00000372954.1_Missense_Mutation_p.D273E|CIZ1_ENST00000541172.1_Missense_Mutation_p.D196E|CIZ1_ENST00000357558.5_Missense_Mutation_p.D297E|CIZ1_ENST00000277465.4_Missense_Mutation_p.D297E|CIZ1_ENST00000372938.5_Missense_Mutation_p.D297E	NM_001257975.1	NP_001244904.1	Q9ULV3	CIZ1_HUMAN	CDKN1A interacting zinc finger protein 1	297	Gln-rich.					nucleus	nucleic acid binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|liver(1)|lung(9)|ovary(3)|prostate(2)|urinary_tract(2)	35						CAGGCAGCAGGTCTGGTGTCT	0.627													T	130941595	G	T	130941595	3	4	364	1	0	0	0	0	1	0	0	0	3472	1252	44	4	1845	4	CIZ1	9	130941595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10249	130941595	10271836	7549	31051											
GOLGA2	2801	broad.mit.edu	37	chr9	131019676	131019676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttggcagccccaagttcCtggggggctggggcccctga	4	8	17	12	0	0	1	0	1	0	0	1	1	1	1	5	7	1	4	5	7	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131019676C>A	ENST00000421699.2	-	25	2778	c.2766G>T	c.(2764-2766)caG>caT	p.Q922H	GOLGA2_ENST00000609374.1_Missense_Mutation_p.Q910H	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	922						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCCAAGTTCCTGGGGGGCTG	0.667													A	131019676	C	A	131019676	3	1	364	1	0	0	0	0	1	0	0	0	6608	680	24	4	250	4	GOLGA2	9	131019676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78081	131019676	10193755	7550	31052											
GOLGA2	2801	broad.mit.edu	37	chr9	131022831	131022831	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgatggtagtgcggtcGttctgcatggtctccaggat	5	12	15	9	3	2	1	0	1	2	0	4	2	2	2	1	5	2	4	1	5	1	2	rs144463156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131022831G>A	ENST00000421699.2	-	17	1602	c.1590C>T	c.(1588-1590)aaC>aaT	p.N530N	GOLGA2_ENST00000609374.1_Silent_p.N518N	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	530						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						TAGTGCGGTCGTTCTGCATGG	0.667													A	131022831	G	A	131022831	2	1	364	1	0	0	0	0	0	0	0	1	6608	1136	40	1		1	GOLGA2	9	131022831	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3155	131022831	10190600	7551	31053											
GOLGA2	2801	broad.mit.edu	37	chr9	131029534	131029534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctggagtccagggctaccGctagctgttggtaccggctc	6	9	14	12	2	0	0	0	0	0	0	2	1	1	1	3	4	4	7	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131029534G>A	ENST00000421699.2	-	7	512	c.500C>T	c.(499-501)gCg>gTg	p.A167V	GOLGA2_ENST00000609374.1_Missense_Mutation_p.A155V	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	167						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CAGGGCTACCGCTAGCTGTTG	0.522													A	131029534	G	A	131029534	3	1	364	1	0	0	0	0	1	0	0	0	6608	1087	38	1	2588	1	GOLGA2	9	131029534	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6703	131029534	10183897	7552	31054											
CERCAM	51148	broad.mit.edu	37	chr9	131185490	131185490	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagtttctgatggagcTgaagcaggaagccctcacct	10	8	11	12	0	2	2	1	2	1	0	2	4	2	4	3	2	3	4	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131185490T>A	ENST00000372842.1	+	4	3284	c.140T>A	c.(139-141)cTg>cAg	p.L47Q	CERCAM_ENST00000372838.4_Missense_Mutation_p.L125Q			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	125					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane				endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						CTGATGGAGCTGAAGCAGGAA	0.547													A	131185490	T	A	131185490	3	1	364	1	0	0	0	0	1	0	0	0	3296	1580	55	5	384	5	CERCAM	9	131185490	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155956	131185490	10027941	7553	31055											
SPTAN1	6709	broad.mit.edu	37	chr9	131371422	131371422	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgacgtctgaaagcccaGatgattgagaaaaggtcaaa	15	7	12	7	2	2	4	1	3	1	2	2	6	2	4	1	2	1	0	1	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131371422G>T	ENST00000372739.3	+	36	4727	c.4617G>T	c.(4615-4617)caG>caT	p.Q1539H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.Q1539H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.Q1539H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1539					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TGAAAGCCCAGATGATTGAGA	0.478													T	131371422	G	T	131371422	3	4	364	1	0	0	0	0	1	0	0	0	15213	933	33	4	4755	4	SPTAN1	9	131371422	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185932	131371422	9842009	7554	31056											
SET	6418	broad.mit.edu	37	chr9	131456919	131456919	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcccactttttctttcaGgaggatgaaggagaagatga	12	11	11	7	0	2	4	1	2	1	2	2	7	2	6	1	3	1	0	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131456919G>T	ENST00000322030.8	+	8	1167		c.e8-1		SET_ENST00000372688.4_Splice_Site|SET_ENST00000372692.4_Splice_Site|SET_ENST00000409104.3_Splice_Site	NM_003011.3	NP_003002.2	Q01105	SET_HUMAN	SET nuclear oncogene						DNA replication|mRNA metabolic process|negative regulation of histone acetylation|negative regulation of neuron apoptosis|negative regulation of transcription, DNA-dependent|nucleocytoplasmic transport|nucleosome assembly|nucleosome disassembly	cytosol|endoplasmic reticulum|nucleoplasm|perinuclear region of cytoplasm|protein complex	histone binding|protein phosphatase inhibitor activity|protein phosphatase type 2A regulator activity			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		TTTTCTTTCAGGAGGATGAAG	0.443			T	NUP214	AML								T	131456919	G	T	131456919	5	4	364	1	0	0	0	0	0	0	1	0	14221	1014	35	4	956	4	SET	9	131456919	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85497	131456919	9756512	7555	31057											
PKN3	29941	broad.mit.edu	37	chr9	131479061	131479061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggatcctggaggctgtggGctgcacagggcaccctttcc	5	8	15	13	1	0	0	0	0	0	0	2	2	2	2	3	5	1	4	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131479061G>A	ENST00000291906.4	+	16	2237	c.1844G>A	c.(1843-1845)gGc>gAc	p.G615D	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	615	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GAGGCTGTGGGCTGCACAGGG	0.582													A	131479061	G	A	131479061	3	1	364	1	0	0	0	0	1	0	0	0	12058	1203	42	2	1906	2	PKN3	9	131479061	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22142	131479061	9734370	7556	31058											
ZDHHC12	84885	broad.mit.edu	37	chr9	131484064	131484064	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagcggcggacgcaacggcgGcactcacggcagtgccgagc	8	3	16	14	7	1	0	1	0	0	0	1	2	1	1	1	5	4	3	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131484064G>A	ENST00000372667.5	-	4	419	c.390C>T	c.(388-390)tgC>tgT	p.C130C	ZDHHC12_ENST00000467312.1_5'UTR|ZDHHC12_ENST00000372672.2_Silent_p.C116C|ZDHHC12_ENST00000372663.4_Silent_p.C116C			Q96GR4	ZDH12_HUMAN	zinc finger, DHHC-type containing 12	116						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|ovary(2)|upper_aerodigestive_tract(1)	4						CGCAACGGCGGCACTCACGGC	0.662													A	131484064	G	A	131484064	2	1	364	1	0	0	0	0	0	0	0	1	17703	1195	42	2		2	ZDHHC12	9	131484064	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5003	131484064	9729367	7557	31059											
ZER1	10444	broad.mit.edu	37	chr9	131502228	131502228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtaattgatgtttctcCgagagtttatgtcccagctc	8	15	8	10	1	1	2	0	1	1	1	4	3	2	2	3	0	1	4	3	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131502228C>T	ENST00000291900.2	-	13	2430	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	675					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity	p.R675Q(1)		endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GATGTTTCTCCGAGAGTTTAT	0.582													T	131502228	C	T	131502228	3	4	364	1	0	0	0	0	1	0	0	0	17726	652	23	1	292	1	ZER1	9	131502228	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18164	131502228	9711203	7558	31060											
TBC1D13	54662	broad.mit.edu	37	chr9	131559450	131559450	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtggaacagacaacacTgaaatctcagacggtggccc	14	5	12	10	1	1	4	1	1	1	3	2	6	1	5	1	3	2	0	1	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131559450T>G	ENST00000372648.5	+	7	650	c.500T>G	c.(499-501)cTg>cGg	p.L167R	TBC1D13_ENST00000223865.8_Missense_Mutation_p.L167R|TBC1D13_ENST00000539497.1_5'UTR|TBC1D13_ENST00000466056.1_3'UTR	NM_018201.3	NP_060671.3	Q9NVG8	TBC13_HUMAN	TBC1 domain family, member 13	167	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	6						CAGACAACACTGAAATCTCAG	0.527													G	131559450	T	G	131559450	3	3	364	1	0	0	0	0	1	0	0	0	15699	1580	55	5	526	5	TBC1D13	9	131559450	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57222	131559450	9653981	7559	31061											
CCBL1	883	broad.mit.edu	37	chr9	131597777	131597777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaagtctgagatgtctGtgatgaggaagtagctgccc	10	10	13	8	0	2	4	0	4	2	1	2	6	2	5	1	1	2	2	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131597777G>A	ENST00000436267.2	-	12	1456	c.1307C>T	c.(1306-1308)aCa>aTa	p.T436I	CCBL1_ENST00000302586.3_Missense_Mutation_p.T342I|CCBL1_ENST00000320665.6_Missense_Mutation_p.T292I|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	342					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	TGAGATGTCTGTGATGAGGAA	0.617													A	131597777	G	A	131597777	3	1	364	1	0	0	0	0	1	0	0	0	2758	1377	48	2	259	2	CCBL1	9	131597777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38327	131597777	9615654	7560	31062											
CCBL1	883	broad.mit.edu	37	chr9	131605002	131605002	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaggcttccacggcaaaGtctggtggtgggaaatccgg	10	8	15	8	2	1	1	0	1	1	0	3	2	3	2	2	6	0	2	2	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131605002G>A	ENST00000436267.2	-	5	563	c.414C>T	c.(412-414)gaC>gaT	p.D138D	CCBL1_ENST00000302586.3_Silent_p.D44D|CCBL1_ENST00000320665.6_Silent_p.D44D|CCBL1_ENST00000483599.1_5'UTR			Q16773	KAT1_HUMAN	cysteine conjugate-beta lyase, cytoplasmic	44					kynurenine metabolic process|L-phenylalanine catabolic process|tryptophan catabolic process	cytosol|nucleus	1-aminocyclopropane-1-carboxylate synthase activity|cysteine-S-conjugate beta-lyase activity|glutamine-phenylpyruvate transaminase activity|kynurenine-oxoglutarate transaminase activity|L-glutamine:pyruvate aminotransferase activity|L-phenylalanine:pyruvate aminotransferase activity|protein homodimerization activity|pyridoxal phosphate binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)	18					L-Glutamine(DB00130)|Pyridoxal Phosphate(DB00114)	CCACGGCAAAGTCTGGTGGTG	0.532													A	131605002	G	A	131605002	2	1	364	1	0	0	0	0	0	0	0	1	2758	1020	36	2		2	CCBL1	9	131605002	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7225	131605002	9608429	7561	31063											
LRRC8A	56262	broad.mit.edu	37	chr9	131671556	131671556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcctccctgccgacatcGgcctcctgcagaacctccag	6	8	7	20	2	0	1	0	0	0	1	5	2	4	1	8	1	3	1	8	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131671556G>A	ENST00000259324.5	+	3	2636	c.2113G>A	c.(2113-2115)Ggc>Agc	p.G705S	LRRC8A_ENST00000372600.4_Missense_Mutation_p.G705S|LRRC8A_ENST00000372599.3_Missense_Mutation_p.G705S	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	705					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						TGCCGACATCGGCCTCCTGCA	0.642													A	131671556	G	A	131671556	3	1	364	1	0	0	0	0	1	0	0	0	9091	1116	39	1	2115	1	LRRC8A	9	131671556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66554	131671556	9541875	7562	31064											
PHYHD1	254295	broad.mit.edu	37	chr9	131703819	131703819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acactttccacctcatggagGcctctggcaccacctggagc	8	8	9	16	0	2	0	1	0	1	0	3	2	3	2	5	4	1	1	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131703819G>A	ENST00000372592.3	+	12	1732	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	PHYHD1_ENST00000308941.5_Silent_p.R259R|PHYHD1_ENST00000487504.1_3'UTR|RP11-101E3.5_ENST00000482796.1_Silent_p.R21R|PHYHD1_ENST00000353176.5_Missense_Mutation_p.A246T|PHYHD1_ENST00000421063.2_Missense_Mutation_p.A246T	NM_001100876.1	NP_001094346.1			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						CCTCATGGAGGCCTCTGGCAC	0.627													A	131703819	G	A	131703819	3	1	364	1	0	0	0	0	1	0	0	0	11942	1203	42	2	837	2	PHYHD1	9	131703819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32263	131703819	9509612	7563	31065											
PHYHD1	254295	broad.mit.edu	37	chr9	131704018	131704018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcagggcaggagccctcGcccctcccgggtgaagctgt	5	6	14	16	3	0	1	0	1	0	0	3	2	1	2	4	3	2	3	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131704018G>A	ENST00000308941.5	+	12	1300	c.880G>A	c.(880-882)Gcc>Acc	p.A294T	PHYHD1_ENST00000372592.3_3'UTR|RP11-101E3.5_ENST00000482796.1_Intron|PHYHD1_ENST00000353176.5_3'UTR|PHYHD1_ENST00000421063.2_3'UTR	NM_174933.3	NP_777593.2			phytanoyl-CoA dioxygenase domain containing 1											central_nervous_system(1)|endometrium(2)|large_intestine(3)|skin(1)|stomach(3)	10						AGGAGCCCTCGCCCCTCCCGG	0.597													A	131704018	G	A	131704018	3	1	364	1	0	0	0	0	1	0	0	0	11942	1087	38	1	944	1	PHYHD1	9	131704018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199	131704018	9509413	7564	31066											
DOLK	22845	broad.mit.edu	37	chr9	131708454	131708454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcttgatgcggaagtagcGcacatactccaggaagatga	13	7	13	8	2	0	3	0	2	0	1	1	5	1	5	1	3	3	3	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131708454G>A	ENST00000372586.3	-	1	1444	c.1129C>T	c.(1129-1131)Cgc>Tgc	p.R377C	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	377					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						CGGAAGTAGCGCACATACTCC	0.522													A	131708454	G	A	131708454	3	1	364	1	0	0	0	0	1	0	0	0	4742	1087	38	1	491	1	DOLK	9	131708454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4436	131708454	9504977	7565	31067											
NUP188	23511	broad.mit.edu	37	chr9	131744902	131744902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatagggcatacctggtaCgctgggaatactcctatagc	11	10	11	9	1	0	1	0	1	0	0	1	2	1	2	2	3	4	3	2	3	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131744902C>T	ENST00000372577.2	+	16	1612	c.1591C>T	c.(1591-1593)Cgc>Tgc	p.R531C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	531					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ATACCTGGTACGCTGGGAATA	0.463													T	131744902	C	T	131744902	3	4	364	1	0	0	0	0	1	0	0	0	10834	536	19	1	1653	1	NUP188	9	131744902	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36448	131744902	9468529	7566	31068											
NUP188	23511	broad.mit.edu	37	chr9	131760483	131760483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgccagctctttcttgaCgtgcttgatggaaccaaagc	8	11	10	12	3	2	2	0	2	2	0	3	3	2	3	2	1	4	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131760483C>T	ENST00000372577.2	+	31	3426	c.3405C>T	c.(3403-3405)gaC>gaT	p.D1135D		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1135					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCTTTCTTGACGTGCTTGATG	0.443													T	131760483	C	T	131760483	2	4	364	1	0	0	0	0	0	0	0	1	10834	535	19	1		1	NUP188	9	131760483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15581	131760483	9452948	7567	31069											
FAM73B	84895	broad.mit.edu	37	chr9	131823542	131823542	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagactggagattacccGatcccactctccagacccgc	9	7	8	17	2	1	3	0	0	1	3	3	5	2	3	4	1	2	1	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131823542G>A	ENST00000358369.4	+	9	1153	c.927G>A	c.(925-927)ccG>ccA	p.P309P	FAM73B_ENST00000406926.2_Silent_p.P309P|FAM73B_ENST00000277475.5_3'UTR	NM_032809.2	NP_116198.2	Q7L4E1	FA73B_HUMAN	family with sequence similarity 73, member B	309						integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13						GAGATTACCCGATCCCACTCT	0.642											OREG0003927	type=REGULATORY REGION|Gene=FAM73B|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	131823542	G	A	131823542	2	1	364	1	0	0	0	0	0	0	0	1	5668	1045	37	1		1	FAM73B	9	131823542	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63059	131823542	9389889	7568	31070											
PPP2R4	5524	broad.mit.edu	37	chr9	131898769	131898769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccttgaggttatgcggAaactccagaaaacatacagg	14	8	11	8	1	0	2	0	1	0	1	1	3	1	3	2	4	5	2	2	4	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:131898769A>G	ENST00000337738.1	+	8	952	c.685A>G	c.(685-687)Aaa>Gaa	p.K229E	PPP2R4_ENST00000355007.3_Missense_Mutation_p.K152E|PPP2R4_ENST00000357197.4_Missense_Mutation_p.K165E|PPP2R4_ENST00000348141.5_Missense_Mutation_p.K200E|PPP2R4_ENST00000393370.2_Missense_Mutation_p.K194E|PPP2R4_ENST00000358994.4_Missense_Mutation_p.K194E|PPP2R4_ENST00000347048.4_Intron|PPP2R4_ENST00000452489.2_Missense_Mutation_p.K229E	NM_178001.2	NP_821068.1	Q15257	PTPA_HUMAN	protein phosphatase 2A activator, regulatory subunit 4	229					ATP catabolic process|negative regulation of phosphoprotein phosphatase activity|negative regulation of protein dephosphorylation|positive regulation of apoptosis|positive regulation of phosphoprotein phosphatase activity|positive regulation of protein dephosphorylation	calcium channel complex|cytoplasm|nucleus|protein phosphatase type 2A complex|soluble fraction	ATP binding|peptidyl-prolyl cis-trans isomerase activity|protein heterodimerization activity|protein homodimerization activity|protein phosphatase 2A binding|protein phosphatase type 2A regulator activity|protein tyrosine phosphatase activator activity|receptor binding			breast(3)|endometrium(1)|kidney(1)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	12		Medulloblastoma(224;0.235)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)		GGTTATGCGGAAACTCCAGAA	0.542													G	131898769	A	G	131898769	3	3	364	1	0	0	0	0	1	0	0	0	12473	247	9	3	715	3	PPP2R4	9	131898769	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75227	131898769	9314662	7569	31071											
C9orf50	375759	broad.mit.edu	37	chr9	132374652	132374652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttatctggctgcagtgttgCggaggccaggaggagatggt	7	10	17	7	1	1	1	0	0	1	1	1	4	1	3	1	6	2	3	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132374652C>T	ENST00000372478.4	-	7	1471	c.1270G>A	c.(1270-1272)Gca>Aca	p.A424T	NTMT1_ENST00000372486.1_Intron	NM_199350.3	NP_955382.3	Q5SZB4	CI050_HUMAN	chromosome 9 open reading frame 50	424										central_nervous_system(1)|endometrium(4)|large_intestine(2)|ovary(1)|skin(1)|urinary_tract(1)	10		Ovarian(14;0.00556)				TGCAGTGTTGCGGAGGCCAGG	0.602													T	132374652	C	T	132374652	3	4	364	1	0	0	0	0	1	0	0	0	2513	768	27	1	29	1	C9orf50	9	132374652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	475883	132374652	8838779	7570	31072											
ASB6	140459	broad.mit.edu	37	chr9	132404200	132404200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgctcggggtcctggaTccccagggagcccagaatcg	6	6	14	15	3	0	1	0	0	0	1	4	3	2	3	5	4	2	1	5	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132404200T>C	ENST00000277458.4	-	1	244	c.79A>G	c.(79-81)Atc>Gtc	p.I27V	ASB6_ENST00000450050.2_Silent_p.G8G|ASB6_ENST00000277459.4_Missense_Mutation_p.I27V	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	27					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GGGTCCTGGATCCCCAGGGAG	0.687													C	132404200	T	C	132404200	3	2	364	1	0	0	0	0	1	0	0	0	1032	1435	50	3	1210	3	ASB6	9	132404200	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29548	132404200	8809231	7571	31073											
TOR1B	27348	broad.mit.edu	37	chr9	132569618	132569618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgacggagtgtcttaccGcaaagccatcttcatctttc	8	13	9	11	2	4	1	1	1	3	0	5	2	4	2	2	2	2	2	2	2	2	4	rs142420082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132569618G>A	ENST00000259339.2	+	3	677	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	206					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				GTGTCTTACCGCAAAGCCATC	0.478													A	132569618	G	A	132569618	3	1	364	1	0	0	0	0	1	0	0	0	16475	1087	38	1	627	1	TOR1B	9	132569618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165418	132569618	8643813	7572	31074											
TOR1B	27348	broad.mit.edu	37	chr9	132571244	132571244	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggcgggccggaagaaaGagggaagacattcagctgaa	13	7	15	6	2	1	4	1	1	0	3	1	6	1	6	1	4	1	1	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132571244G>A	ENST00000259339.2	+	4	762	c.702G>A	c.(700-702)aaG>aaA	p.K234K		NM_014506.1	NP_055321.1	O14657	TOR1B_HUMAN	torsin family 1, member B (torsin B)	234					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen	ATP binding|nucleoside-triphosphatase activity|unfolded protein binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)	12		Ovarian(14;0.0586)				CCGGAAGAAAGAGGGAAGACA	0.458													A	132571244	G	A	132571244	2	1	364	1	0	0	0	0	0	0	0	1	16475	933	33	2		2	TOR1B	9	132571244	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1626	132571244	8642187	7573	31075											
TOR1A	1861	broad.mit.edu	37	chr9	132584875	132584875	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgccttgtacaaggtgatGtttgaagcatgtggaaagtg	10	13	13	5	0	0	2	0	2	0	0	0	3	0	3	1	2	3	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132584875G>A	ENST00000351698.4	-	2	477	c.429C>T	c.(427-429)aaC>aaT	p.N143N	TOR1A_ENST00000473084.1_5'UTR	NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	143					chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				ACAAGGTGATGTTTGAAGCAT	0.468													A	132584875	G	A	132584875	2	1	364	1	0	0	0	0	0	0	0	1	16472	1368	48	2		2	TOR1A	9	132584875	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13631	132584875	8628556	7574	31076											
USP20	10868	broad.mit.edu	37	chr9	132630508	132630508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtggcgggggcagctcGcaggccgagacggagctgct	5	4	21	11	5	0	1	0	0	0	1	1	3	0	2	1	6	3	5	1	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132630508G>A	ENST00000315480.4	+	11	1073	c.915G>A	c.(913-915)tcG>tcA	p.S305S	USP20_ENST00000358355.1_Silent_p.S305S|USP20_ENST00000372429.3_Silent_p.S305S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	305					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GGGGCAGCTCGCAGGCCGAGA	0.657													A	132630508	G	A	132630508	2	1	364	1	0	0	0	0	0	0	0	1	17154	1074	38	1		1	USP20	9	132630508	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45633	132630508	8582923	7575	31077											
USP20	10868	broad.mit.edu	37	chr9	132632081	132632081	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcctgtggggacagctatgCcgcccagggctggctggcct	4	7	16	14	2	0	0	0	0	0	0	0	1	0	1	4	5	2	3	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132632081C>G	ENST00000315480.4	+	14	1681	c.1523C>G	c.(1522-1524)gCc>gGc	p.A508G	USP20_ENST00000358355.1_Missense_Mutation_p.A508G|USP20_ENST00000372429.3_Missense_Mutation_p.A508G			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	508					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GACAGCTATGCCGCCCAGGGC	0.617													G	132632081	C	G	132632081	3	3	364	1	0	0	0	0	1	0	0	0	17154	739	26	4	1569	4	USP20	9	132632081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1573	132632081	8581350	7576	31078											
USP20	10868	broad.mit.edu	37	chr9	132636916	132636916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcattcaagatcaacaGccacgtctccttccccctcg	9	10	5	17	2	4	1	3	0	1	1	7	1	5	1	4	0	3	1	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132636916G>T	ENST00000315480.4	+	18	1960	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	USP20_ENST00000358355.1_Missense_Mutation_p.S601I|USP20_ENST00000372429.3_Missense_Mutation_p.S601I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	601					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				AAGATCAACAGCCACGTCTCC	0.577													T	132636916	G	T	132636916	3	4	364	1	0	0	0	0	1	0	0	0	17154	971	34	4	1864	4	USP20	9	132636916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4835	132636916	8576515	7577	31079											
FNBP1	23048	broad.mit.edu	37	chr9	132662789	132662789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggcgcgcctgctcgctgCgtgctgggagccggccttca	2	7	16	16	6	1	0	1	0	0	0	2	1	1	1	4	3	4	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132662789C>T	ENST00000420781.1	-	14	1657	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	FNBP1_ENST00000355681.3_Missense_Mutation_p.R460H|FNBP1_ENST00000443566.2_Missense_Mutation_p.R117H|FNBP1_ENST00000478129.1_5'UTR|FNBP1_ENST00000446176.2_Missense_Mutation_p.R489H			Q96RU3	FNBP1_HUMAN	formin binding protein 1	489	Interaction with RND2 (By similarity).|Required for self-association and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CTGCTCGCTGCGTGCTGGGAG	0.617			T	MLL	AML								T	132662789	C	T	132662789	3	4	364	1	0	0	0	0	1	0	0	0	6014	768	27	1	403	1	FNBP1	9	132662789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25873	132662789	8550642	7578	31080											
FNBP1	23048	broad.mit.edu	37	chr9	132719709	132719709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtactgctgcgccctgtccGcctctttgcaatcgcgttca	5	12	9	15	4	2	0	1	0	1	0	4	0	3	0	3	0	4	4	3	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132719709G>A	ENST00000420781.1	-	6	661	c.443C>T	c.(442-444)gCg>gTg	p.A148V	FNBP1_ENST00000355681.3_Missense_Mutation_p.A148V|FNBP1_ENST00000446176.2_Missense_Mutation_p.A148V			Q96RU3	FNBP1_HUMAN	formin binding protein 1	148	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		CGCCCTGTCCGCCTCTTTGCA	0.428			T	MLL	AML								A	132719709	G	A	132719709	3	1	364	1	0	0	0	0	1	0	0	0	6014	1087	38	1	1458	1	FNBP1	9	132719709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56920	132719709	8493722	7579	31081											
FNBP1	23048	broad.mit.edu	37	chr9	132740835	132740835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagataacttcatgctgcCctgcgtaatcattcatttcg	9	13	8	11	3	3	1	3	0	0	1	4	2	3	1	1	1	4	2	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132740835C>T	ENST00000420781.1	-	4	472	c.254G>A	c.(253-255)gGg>gAg	p.G85E	FNBP1_ENST00000355681.3_Missense_Mutation_p.G85E|FNBP1_ENST00000446176.2_Missense_Mutation_p.G85E			Q96RU3	FNBP1_HUMAN	formin binding protein 1	85	Interaction with microtubules (By similarity).|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		TTCATGCTGCCCTGCGTAATC	0.443			T	MLL	AML								T	132740835	C	T	132740835	3	4	364	1	0	0	0	0	1	0	0	0	6014	623	22	2	1655	2	FNBP1	9	132740835	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21126	132740835	8472596	7580	31082											
NCS1	23413	broad.mit.edu	37	chr9	132980151	132980151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgccccagtgggcagctgGatgcggcaggcttccagaag	8	6	15	12	1	0	1	0	0	0	1	1	2	1	2	3	4	3	4	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:132980151G>A	ENST00000372398.3	+	3	216	c.130G>A	c.(130-132)Gat>Aat	p.D44N	NCS1_ENST00000458469.1_Missense_Mutation_p.D26N|NCS1_ENST00000493042.1_3'UTR	NM_014286.3	NP_055101.2	P62166	NCS1_HUMAN	neuronal calcium sensor 1	44	EF-hand 1.				negative regulation of calcium ion transport via voltage-gated calcium channel activity|regulation of neuron projection development	cell junction|Golgi cisterna membrane|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|protein binding			large_intestine(1)|lung(4)|stomach(1)	6						TGGGCAGCTGGATGCGGCAGG	0.537													A	132980151	G	A	132980151	3	1	364	1	0	0	0	0	1	0	0	0	10316	1174	41	2	154	2	NCS1	9	132980151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239316	132980151	8233280	7581	31083											
FUBP3	8939	broad.mit.edu	37	chr9	133491792	133491792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgctgtcgaaatggacCtggctttcataatgacatag	11	10	11	9	2	1	1	1	1	0	0	2	4	1	3	2	3	0	2	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133491792C>A	ENST00000319725.9	+	7	530	c.455C>A	c.(454-456)cCt>cAt	p.P152H		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	152					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CGAAATGGACCTGGCTTTCAT	0.498													A	133491792	C	A	133491792	3	1	364	1	0	0	0	0	1	0	0	0	6145	681	24	4	481	4	FUBP3	9	133491792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	511641	133491792	7721639	7582	31084											
ABL1	25	broad.mit.edu	37	chr9	133750263	133750263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttcttagagatcttgCtgcccgaaactgcctggtag	7	14	9	11	1	2	1	0	0	2	1	3	3	3	1	3	1	4	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133750263C>A	ENST00000318560.5	+	7	1475	c.1094C>A	c.(1093-1095)gCt>gAt	p.A365D		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	365	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding	p.A365V(1)|p.?(1)		breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	AGAGATCTTGCTGCCCGAAAC	0.517			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								A	133750263	C	A	133750263	3	1	364	1	0	0	0	0	1	0	0	0	92	797	28	4	1260	4	ABL1	9	133750263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258471	133750263	7463168	7583	31085											
ABL1	25	broad.mit.edu	37	chr9	133753948	133753948	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtctatgaactcatgCgagcatgtaagccttcctca	12	10	9	10	1	3	2	2	1	1	1	4	3	4	2	2	1	4	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133753948C>T	ENST00000318560.5	+	8	1798	c.1417C>T	c.(1417-1419)Cga>Tga	p.R473*		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	473	Protein kinase.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	TGAACTCATGCGAGCATGTAA	0.502			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133753948	C	T	133753948	4	4	364	1	0	0	0	0	0	1	0	0	92	760	27	1	1587	1	ABL1	9	133753948	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3685	133753948	7459483	7584	31086											
ABL1	25	broad.mit.edu	37	chr9	133760330	133760330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaagcactcctctgagtcgCcagggagggacaaggggaaa	13	4	14	10	1	1	1	0	1	1	0	3	4	2	4	2	4	1	1	2	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133760330C>T	ENST00000318560.5	+	11	3034	c.2653C>T	c.(2653-2655)Cca>Tca	p.P885S		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	885	DNA-binding (By similarity).|Pro-rich.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCTGAGTCGCCAGGGAGGGA	0.672			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133760330	C	T	133760330	3	4	364	1	0	0	0	0	1	0	0	0	92	739	26	2	2835	2	ABL1	9	133760330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6382	133760330	7453101	7585	31087											
ABL1	25	broad.mit.edu	37	chr9	133761036	133761036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcagcaagctcctcagttCggtgaaggaaatcagtgaca	12	9	10	10	1	3	2	3	2	0	0	5	3	4	3	1	2	2	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133761036C>T	ENST00000318560.5	+	11	3740	c.3359C>T	c.(3358-3360)tCg>tTg	p.S1120L		NM_005157.4	NP_005148.2	P00519	ABL1_HUMAN	c-abl oncogene 1, non-receptor tyrosine kinase	1120	F-actin-binding.				actin cytoskeleton organization|axon guidance|blood coagulation|cell adhesion|DNA damage induced protein phosphorylation|DNA damage response, signal transduction resulting in induction of apoptosis|mismatch repair|muscle cell differentiation|negative regulation of protein serine/threonine kinase activity|peptidyl-tyrosine phosphorylation|positive regulation of muscle cell differentiation|positive regulation of oxidoreductase activity|regulation of transcription involved in S phase of mitotic cell cycle	cytoskeleton|cytosol|nuclear membrane|nucleolus|perinuclear region of cytoplasm	ATP binding|DNA binding|magnesium ion binding|manganese ion binding|mitogen-activated protein kinase binding|non-membrane spanning protein tyrosine kinase activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(3)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1149)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	1195		all_hematologic(13;0.0361)|Acute lymphoblastic leukemia(5;0.0543)|Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.4e-05)	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)|Imatinib(DB00619)	CTCCTCAGTTCGGTGAAGGAA	0.587			"T, Mis"	"BCR, ETV6, NUP214"	"CML, ALL, T-ALL"								T	133761036	C	T	133761036	3	4	364	1	0	0	0	0	1	0	0	0	92	893	31	1	3541	1	ABL1	9	133761036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706	133761036	7452395	7586	31088											
FIBCD1	84929	broad.mit.edu	37	chr9	133799639	133799639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccagtggcacagccccGgggccgggttccccgggcag	5	4	15	17	3	1	0	1	0	0	0	2	0	2	0	6	5	1	3	6	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:133799639G>A	ENST00000372338.4	-	3	939	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	FIBCD1_ENST00000372337.2_Missense_Mutation_p.R75W|FIBCD1_ENST00000253018.4_Missense_Mutation_p.R75W|FIBCD1_ENST00000448616.1_Missense_Mutation_p.R233W	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	233					signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		GCACAGCCCCGGGGCCGGGTT	0.731													A	133799639	G	A	133799639	3	1	364	1	0	0	0	0	1	0	0	0	5933	1115	39	1	708	1	FIBCD1	9	133799639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38603	133799639	7413792	7587	31089											
NUP214	8021	broad.mit.edu	37	chr9	134021675	134021675	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccattgaagtcctcagtCttgccctcaccatcaggtat	8	12	8	13	0	4	1	3	1	1	0	5	1	5	1	4	1	2	1	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134021675C>A	ENST00000359428.5	+	13	2073	c.1929C>A	c.(1927-1929)gtC>gtA	p.V643V	RP11-544A12.4_ENST00000587408.1_RNA|RP11-544A12.4_ENST00000586290.1_RNA|RP11-544A12.4_ENST00000587264.1_RNA|RP11-544A12.4_ENST00000589540.1_RNA|RP11-544A12.4_ENST00000590461.1_RNA|NUP214_ENST00000411637.2_Silent_p.V632V|RP11-544A12.4_ENST00000415391.2_RNA|NUP214_ENST00000451030.1_Silent_p.V643V|RP11-544A12.4_ENST00000589667.1_RNA|RP11-544A12.4_ENST00000588378.1_RNA			P35658	NU214_HUMAN	nucleoporin 214kDa	643	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		AGTCCTCAGTCTTGCCCTCAC	0.502			T	"DEK, SET, ABL1"	"AML, T-ALL"								A	134021675	C	A	134021675	2	1	364	1	0	0	0	0	0	0	0	1	10838	900	32	4		4	NUP214	9	134021675	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222036	134021675	7191756	7588	31090											
NUP214	8021	broad.mit.edu	37	chr9	134049645	134049645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtctcttgccccatgcaGcaccttttgctaaatctcac	8	12	5	16	0	2	0	1	0	2	0	4	0	2	0	4	0	4	3	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134049645G>T	ENST00000359428.5	+	22	3241	c.3097G>T	c.(3097-3099)Gca>Tca	p.A1033S	NUP214_ENST00000411637.2_Missense_Mutation_p.A1023S|NUP214_ENST00000451030.1_Missense_Mutation_p.A1034S			P35658	NU214_HUMAN	nucleoporin 214kDa	1033	11 X 5 AA approximate repeats.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCCCATGCAGCACCTTTTGC	0.532			T	"DEK, SET, ABL1"	"AML, T-ALL"								T	134049645	G	T	134049645	3	4	364	1	0	0	0	0	1	0	0	0	10838	971	34	4	3183	4	NUP214	9	134049645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27970	134049645	7163786	7589	31091											
NUP214	8021	broad.mit.edu	37	chr9	134074037	134074037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttggtaccacagccccagGggtctttggacagacaacct	9	10	10	12	0	1	1	0	0	1	1	1	2	1	2	4	4	3	1	4	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134074037G>A	ENST00000359428.5	+	29	5300	c.5156G>A	c.(5155-5157)gGg>gAg	p.G1719E	NUP214_ENST00000411637.2_Missense_Mutation_p.G1709E|NUP214_ENST00000451030.1_Missense_Mutation_p.G1720E|NUP214_ENST00000483497.2_Missense_Mutation_p.G545E			P35658	NU214_HUMAN	nucleoporin 214kDa	1719	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process|glucose transport|mRNA metabolic process|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore|nucleoplasm	protein binding			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		ACAGCCCCAGGGGTCTTTGGA	0.587			T	"DEK, SET, ABL1"	"AML, T-ALL"								A	134074037	G	A	134074037	3	1	364	1	0	0	0	0	1	0	0	0	10838	1232	43	2	5270	2	NUP214	9	134074037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24392	134074037	7139394	7590	31092											
POMT1	10585	broad.mit.edu	37	chr9	134385314	134385314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtacatgggtgtgttcacGtacgtgctcgtgctgggtgt	6	13	15	7	3	1	0	1	0	0	0	2	0	1	0	0	2	4	5	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134385314G>A	ENST00000423007.1	+	8	1072	c.630G>A	c.(628-630)acG>acA	p.T210T	POMT1_ENST00000402686.3_Silent_p.T210T|POMT1_ENST00000354713.4_Silent_p.T180T|POMT1_ENST00000419118.2_Silent_p.T58T|POMT1_ENST00000541219.1_Intron|POMT1_ENST00000341012.7_Silent_p.T156T|POMT1_ENST00000372228.3_Silent_p.T210T|POMT1_ENST00000404875.2_Silent_p.T93T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	210					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTGTGTTCACGTACGTGCTCG	0.512													A	134385314	G	A	134385314	2	1	364	1	0	0	0	0	0	0	0	1	12322	1132	40	1		1	POMT1	9	134385314	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	311277	134385314	6828117	7591	31093											
POMT1	10585	broad.mit.edu	37	chr9	134398374	134398374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcctggtactcctccGcgtgccacgtgtccaacacg	5	9	12	15	4	0	0	0	0	0	0	3	0	3	0	5	3	3	1	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134398374G>A	ENST00000423007.1	+	20	2501	c.2059G>A	c.(2059-2061)Gcg>Acg	p.A687T	POMT1_ENST00000402686.3_Missense_Mutation_p.A687T|POMT1_ENST00000485278.1_3'UTR|POMT1_ENST00000354713.4_Missense_Mutation_p.A657T|POMT1_ENST00000419118.2_Missense_Mutation_p.A535T|POMT1_ENST00000541219.1_Missense_Mutation_p.A427T|POMT1_ENST00000341012.7_Missense_Mutation_p.A633T|POMT1_ENST00000372228.3_Missense_Mutation_p.A709T|POMT1_ENST00000404875.2_Missense_Mutation_p.A570T	NM_001136113.1	NP_001129585.1	Q9Y6A1	POMT1_HUMAN	protein-O-mannosyltransferase 1	709					multicellular organismal development|protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	31		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.65e-05)|Epithelial(140;0.000259)		GTACTCCTCCGCGTGCCACGT	0.637													A	134398374	G	A	134398374	3	1	364	1	0	0	0	0	1	0	0	0	12322	1087	38	1	2199	1	POMT1	9	134398374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13060	134398374	6815057	7592	31094											
UCK1	83549	broad.mit.edu	37	chr9	134404364	134404364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcgaaggccggcttcacGaaggtggtgtactgcgtcag	7	9	14	11	4	2	0	2	0	0	0	4	2	3	0	2	4	2	2	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404364G>A	ENST00000372215.4	-	5	663	c.570C>T	c.(568-570)ttC>ttT	p.F190F	UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372210.3_Silent_p.F181F|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Silent_p.F195F	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	190					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		CCGGCTTCACGAAGGTGGTGT	0.612													A	134404364	G	A	134404364	2	1	364	1	0	0	0	0	0	0	0	1	17025	1049	37	1		1	UCK1	9	134404364	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5990	134404364	6809067	7593	31095											
UCK1	83549	broad.mit.edu	37	chr9	134404542	134404542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacagcctgacgtcggagtCggtgtccacgaagaggcgca	10	5	15	11	5	0	3	0	1	0	2	3	5	1	4	2	3	1	1	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134404542C>T	ENST00000372215.4	-	4	574	c.481G>A	c.(481-483)Gac>Aac	p.D161N	UCK1_ENST00000372208.3_Missense_Mutation_p.D161N|UCK1_ENST00000372210.3_Missense_Mutation_p.D152N|UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372211.3_Missense_Mutation_p.D166N	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	161					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACGTCGGAGTCGGTGTCCACG	0.647													T	134404542	C	T	134404542	3	4	364	1	0	0	0	0	1	0	0	0	17025	884	31	1	368	1	UCK1	9	134404542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178	134404542	6808889	7594	31096											
RAPGEF1	2889	broad.mit.edu	37	chr9	134497224	134497224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagggcgggcggcggggccaGctcctgcacggagtccaccc	5	4	17	15	4	0	0	0	0	0	0	2	1	2	1	4	6	2	2	4	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134497224G>T	ENST00000372195.1	-	11	2107	c.1864C>A	c.(1864-1866)Ctg>Atg	p.L622M	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.L605M|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.L623M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	605					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGCGGGGCCAGCTCCTGCACG	0.602													T	134497224	G	T	134497224	3	4	364	1	0	0	0	0	1	0	0	0	13131	962	34	4	1476	4	RAPGEF1	9	134497224	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92682	134497224	6716207	7595	31097											
RAPGEF1	2889	broad.mit.edu	37	chr9	134504591	134504591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactgtgacatcccagtcGtcttgtttaggatctctacc	7	15	8	11	1	2	2	0	2	2	0	5	3	3	3	2	1	1	1	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:134504591G>A	ENST00000372195.1	-	7	1034	c.791C>T	c.(790-792)aCg>aTg	p.T264M	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.T247M|RAPGEF1_ENST00000481260.1_5'UTR|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.T265M			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	247					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		CATCCCAGTCGTCTTGTTTAG	0.572													A	134504591	G	A	134504591	3	1	364	1	0	0	0	0	1	0	0	0	13131	1145	40	1	2565	1	RAPGEF1	9	134504591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7367	134504591	6708840	7596	31098											
NTNG2	84628	broad.mit.edu	37	chr9	135073845	135073845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggacaacctctacacgCggctggagagcgccaagggc	11	4	13	13	3	1	1	0	0	1	1	1	3	1	2	2	4	3	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135073845C>T	ENST00000393229.3	+	3	1482	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	NTNG2_ENST00000393228.4_Missense_Mutation_p.R236W|NTNG2_ENST00000372179.3_Missense_Mutation_p.R236W|NTNG2_ENST00000360670.3_Missense_Mutation_p.R236W	NM_032536.2	NP_115925.2	Q96CW9	NTNG2_HUMAN	netrin G2	236	Laminin N-terminal.				axonogenesis	anchored to plasma membrane				central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	29				OV - Ovarian serous cystadenocarcinoma(145;1.23e-05)|Epithelial(140;0.000173)		CCTCTACACGCGGCTGGAGAG	0.672													T	135073845	C	T	135073845	3	4	364	1	0	0	0	0	1	0	0	0	10781	759	27	1	712	1	NTNG2	9	135073845	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	569254	135073845	6139586	7597	31099											
SETX	23064	broad.mit.edu	37	chr9	135163640	135163640	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgtatttcccgtccacCtcggcatagagctcgctgcc	6	11	8	16	3	0	1	0	0	0	1	4	1	2	1	5	1	3	4	5	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135163640C>A	ENST00000372169.2	-	17	6489	c.6307G>T	c.(6307-6309)Ggt>Tgt	p.G2103C	SETX_ENST00000224140.5_Missense_Mutation_p.G2103C|SETX_ENST00000393220.1_Missense_Mutation_p.G2103C			Q7Z333	SETX_HUMAN	senataxin	2103					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		TCCCGTCCACCTCGGCATAGA	0.403													A	135163640	C	A	135163640	3	1	364	1	0	0	0	0	1	0	0	0	14234	681	24	4	1766	4	SETX	9	135163640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89795	135163640	6049791	7598	31100											
SETX	23064	broad.mit.edu	37	chr9	135204624	135204624	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgtgataactttgcacaGatttcatctttctgtacctt	10	17	5	9	0	3	2	1	1	2	1	3	2	3	2	1	0	3	2	1	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135204624G>T	ENST00000372169.2	-	10	2543	c.2361C>A	c.(2359-2361)atC>atA	p.I787I	SETX_ENST00000224140.5_Silent_p.I787I|SETX_ENST00000393220.1_Silent_p.I787I			Q7Z333	SETX_HUMAN	senataxin	787					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		ACTTTGCACAGATTTCATCTT	0.328													T	135204624	G	T	135204624	2	4	364	1	0	0	0	0	0	0	0	1	14234	932	33	4		4	SETX	9	135204624	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40984	135204624	6008807	7599	31101											
TTF1	7270	broad.mit.edu	37	chr9	135277278	135277278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggcccacagcaggccGggattcctgcatatcagccc	9	6	11	15	1	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135277278G>A	ENST00000334270.2	-	2	970	c.931C>T	c.(931-933)Cgg>Tgg	p.R311W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	311					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		ACAGCAGGCCGGGATTCCTGC	0.453													A	135277278	G	A	135277278	3	1	364	1	0	0	0	0	1	0	0	0	16820	1115	39	1	1826	1	TTF1	9	135277278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72654	135277278	5936153	7600	31102											
TSC1	7248	broad.mit.edu	37	chr9	135776205	135776205	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactccatctgctgctggAccgactcactgtttgagagc	9	10	10	12	1	2	2	1	1	1	2	3	5	3	3	2	1	4	3	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135776205A>G	ENST00000298552.3	-	20	2743	c.2522T>C	c.(2521-2523)gTc>gCc	p.V841A	TSC1_ENST00000440111.2_Missense_Mutation_p.V841A|TSC1_ENST00000545250.1_Missense_Mutation_p.V790A	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	841					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding	p.?(1)		NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		CTGCTGCTGGACCGACTCACT	0.448			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				G	135776205	A	G	135776205	3	3	364	1	0	0	0	0	1	0	0	0	16706	275	10	3	988	3	TSC1	9	135776205	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	498927	135776205	5437226	7601	31103											
GTF3C5	9328	broad.mit.edu	37	chr9	135926232	135926232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgagcagagcccggcGcccccacaatgccatctttg	7	7	11	16	2	1	2	0	1	1	1	1	2	1	2	5	2	3	1	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926232G>A	ENST00000372097.5	+	4	958	c.635G>A	c.(634-636)cGc>cAc	p.R212H	GTF3C5_ENST00000372099.6_Missense_Mutation_p.R203H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.R212H|GTF3C5_ENST00000342018.8_Missense_Mutation_p.R212H|GTF3C5_ENST00000372095.5_Missense_Mutation_p.R87H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	212						transcription factor TFIIIC complex	DNA binding|protein binding	p.R212H(1)		endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGAGCCCGGCGCCCCCACAAT	0.587													A	135926232	G	A	135926232	3	1	364	1	0	0	0	0	1	0	0	0	6931	1087	38	1	649	1	GTF3C5	9	135926232	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150027	135926232	5287199	7602	31104											
GTF3C5	9328	broad.mit.edu	37	chr9	135926284	135926284	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggaggtgcccaagcaGccactggaggctgcagccca	10	4	15	12	0	0	1	0	1	0	0	0	4	0	3	3	4	5	3	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135926284G>T	ENST00000372097.5	+	4	1010	c.687G>T	c.(685-687)caG>caT	p.Q229H	GTF3C5_ENST00000372099.6_Missense_Mutation_p.Q220H|GTF3C5_ENST00000372108.5_Missense_Mutation_p.Q229H|GTF3C5_ENST00000342018.8_Splice_Site|GTF3C5_ENST00000372095.5_Missense_Mutation_p.Q104H	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	229						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TGCCCAAGCAGCCACTGGAGG	0.617													T	135926284	G	T	135926284	3	4	364	1	0	0	0	0	1	0	0	0	6931	962	34	4	701	4	GTF3C5	9	135926284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	135926284	5287147	7603	31105											
GTF3C5	9328	broad.mit.edu	37	chr9	135929296	135929296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaagatttatcaagtcCtcgatttccgaatccgttgt	10	14	7	10	3	1	1	1	0	0	1	5	3	4	1	4	0	1	1	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929296C>T	ENST00000372097.5	+	6	1278	c.955C>T	c.(955-957)Ctc>Ttc	p.L319F	GTF3C5_ENST00000372099.6_Missense_Mutation_p.L310F|GTF3C5_ENST00000372108.5_Missense_Mutation_p.L319F|GTF3C5_ENST00000342018.8_Missense_Mutation_p.L250F|GTF3C5_ENST00000372095.5_Missense_Mutation_p.L194F	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	319						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		TTATCAAGTCCTCGATTTCCG	0.458													T	135929296	C	T	135929296	3	4	364	1	0	0	0	0	1	0	0	0	6931	681	24	2	977	2	GTF3C5	9	135929296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3012	135929296	5284135	7604	31106											
GTF3C5	9328	broad.mit.edu	37	chr9	135929816	135929816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgcccccagtgacttgcCggtcaaagcaaagcgcagca	11	6	10	14	3	1	1	1	1	0	0	1	1	1	1	3	1	5	3	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135929816C>T	ENST00000372097.5	+	7	1333	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	GTF3C5_ENST00000372099.6_Missense_Mutation_p.P328L|GTF3C5_ENST00000372108.5_Missense_Mutation_p.P337L|GTF3C5_ENST00000342018.8_Missense_Mutation_p.P268L|GTF3C5_ENST00000372095.5_Missense_Mutation_p.P212L	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	337						transcription factor TFIIIC complex	DNA binding|protein binding			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		AGTGACTTGCCGGTCAAAGCA	0.597													T	135929816	C	T	135929816	3	4	364	1	0	0	0	0	1	0	0	0	6931	652	23	1	1036	1	GTF3C5	9	135929816	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520	135929816	5283615	7605	31107											
CEL	1056	broad.mit.edu	37	chr9	135945982	135945982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccacccccacgggctaccGgccccaagacaggacagtct	9	3	10	19	3	1	1	0	0	1	1	1	2	1	2	6	3	1	1	6	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135945982G>A	ENST00000372080.4	+	10	1446	c.1430G>A	c.(1429-1431)cGg>cAg	p.R477Q	CEL_ENST00000351304.7_Intron	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	474					cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		ACGGGCTACCGGCCCCAAGAC	0.607													A	135945982	G	A	135945982	3	1	364	1	0	0	0	0	1	0	0	0	3239	1116	39	1	1468	1	CEL	9	135945982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16166	135945982	5267449	7606	31108											
RALGDS	5900	broad.mit.edu	37	chr9	135974142	135974142	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgttggcgttttcagggatCttcagctctggtggggaggg	5	12	17	7	2	4	0	2	0	2	0	4	2	4	2	0	6	1	3	0	6	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135974142C>T	ENST00000393160.3	-	18	2765	c.2412G>A	c.(2410-2412)aaG>aaA	p.K804K	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Silent_p.K847K|RALGDS_ENST00000372050.3_Silent_p.K859K|RALGDS_ENST00000393157.3_Silent_p.K858K|RALGDS_ENST00000542690.1_Silent_p.K930K|RALGDS_ENST00000372062.3_Silent_p.K830K	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	859	Ras-associating.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TTTCAGGGATCTTCAGCTCTG	0.562			T	CIITA	"PMBL, Hodgkin Lymphona, "								T	135974142	C	T	135974142	2	4	364	1	0	0	0	0	0	0	0	1	13104	912	32	2		2	RALGDS	9	135974142	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28160	135974142	5239289	7607	31109											
RALGDS	5900	broad.mit.edu	37	chr9	135983469	135983469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgttctctgcaaccacaGgtgaaggccaggaaggctgt	9	7	13	12	1	1	1	0	1	1	0	2	2	1	2	3	4	2	3	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:135983469G>T	ENST00000393160.3	-	6	1291	c.938C>A	c.(937-939)cCt>cAt	p.P313H	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372047.3_Missense_Mutation_p.P356H|RALGDS_ENST00000372050.3_Missense_Mutation_p.P368H|RALGDS_ENST00000393157.3_Missense_Mutation_p.P367H|RALGDS_ENST00000542690.1_Missense_Mutation_p.P439H|RALGDS_ENST00000372062.3_Missense_Mutation_p.P339H	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	368					nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		TGCAACCACAGGTGAAGGCCA	0.562			T	CIITA	"PMBL, Hodgkin Lymphona, "								T	135983469	G	T	135983469	3	4	364	1	0	0	0	0	1	0	0	0	13104	1000	35	4	1693	4	RALGDS	9	135983469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9327	135983469	5229962	7608	31110											
SURF2	6835	broad.mit.edu	37	chr9	136227955	136227955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgggctcgttgaaaaaGaagttcaagagtcatcaccg	13	9	11	8	2	3	3	3	1	0	2	4	3	3	3	1	1	0	4	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136227955G>T	ENST00000371964.4	+	6	752	c.711G>T	c.(709-711)aaG>aaT	p.K237N		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	237							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CGTTGAAAAAGAAGTTCAAGA	0.478													T	136227955	G	T	136227955	3	4	364	1	0	0	0	0	1	0	0	0	15500	933	33	4	733	4	SURF2	9	136227955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	244486	136227955	4985476	7609	31111											
REXO4	57109	broad.mit.edu	37	chr9	136282769	136282769	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccttccagttttgagaaaAgtcttctggtgcctttggag	7	14	11	9	1	2	1	0	1	2	1	3	3	3	2	3	2	1	1	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136282769A>C	ENST00000371942.3	-	1	395	c.196T>G	c.(196-198)Ttt>Gtt	p.F66V	REXO4_ENST00000371935.2_Missense_Mutation_p.F66V|REXO4_ENST00000478037.1_5'UTR|ADAMTS13_ENST00000485925.1_Intron	NM_020385.2	NP_065118.2	Q9GZR2	REXO4_HUMAN	REX4, RNA exonuclease 4 homolog (S. cerevisiae)	66						nucleolus	exonuclease activity|nucleic acid binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	15				OV - Ovarian serous cystadenocarcinoma(145;8.58e-08)|Epithelial(140;9.55e-07)|all cancers(34;1.05e-05)		TTTTGAGAAAAGTCTTCTGGT	0.587													C	136282769	A	C	136282769	3	2	364	1	0	0	0	0	1	0	0	0	13331	72	3	5	1104	5	REXO4	9	136282769	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54814	136282769	4930662	7610	31112											
ADAMTS13	11093	broad.mit.edu	37	chr9	136324099	136324099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccttttctctcagatcCgggacacccacagcttgagg	7	10	9	15	1	2	2	1	1	1	1	4	3	3	3	4	2	2	1	4	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136324099C>T	ENST00000371929.3	+	29	4525	c.4081C>T	c.(4081-4083)Cgg>Tgg	p.R1361W	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.R1274W|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.R1305W|ADAMTS13_ENST00000371910.1_Missense_Mutation_p.R157W|ADAMTS13_ENST00000485925.1_3'UTR	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1361	CUB 2.				cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTCAGATCCGGGACACCCA	0.572													T	136324099	C	T	136324099	3	4	364	1	0	0	0	0	1	0	0	0	258	643	23	1	4195	1	ADAMTS13	9	136324099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41330	136324099	4889332	7611	31113											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136401795	136401795	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtcatctggaagaggatCggagctggcctggtggtgac	7	9	17	8	1	2	2	1	1	1	1	3	5	2	5	1	7	1	1	1	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136401795C>T	ENST00000393061.3	+	2	720	c.288C>T	c.(286-288)atC>atT	p.I96I	ADAMTSL2_ENST00000393060.1_5'UTR|ADAMTSL2_ENST00000354484.4_5'UTR			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	503	TSP type-1 1.				negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GGAAGAGGATCGGAGCTGGCC	0.592													T	136401795	C	T	136401795	2	4	364	1	0	0	0	0	0	0	0	1	275	899	31	1		1	ADAMTSL2	9	136401795	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77696	136401795	4811636	7612	31114											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136406006	136406006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccttcctgcagcccatcGgctgtgacggggtgcttttc	3	12	11	15	2	0	1	0	1	0	0	4	1	2	1	3	3	3	3	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136406006G>A	ENST00000393061.3	+	7	1324	c.892G>A	c.(892-894)Ggc>Agc	p.G298S	ADAMTSL2_ENST00000393060.1_Missense_Mutation_p.G189S|ADAMTSL2_ENST00000354484.4_Missense_Mutation_p.G189S			Q86TH1	ATL2_HUMAN	ADAMTS-like 2	189					negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		GCAGCCCATCGGCTGTGACGG	0.682													A	136406006	G	A	136406006	3	1	364	1	0	0	0	0	1	0	0	0	275	1116	39	1	587	1	ADAMTSL2	9	136406006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4211	136406006	4807425	7613	31115											
ADAMTSL2	9719	broad.mit.edu	37	chr9	136412159	136412159	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcggctttgcccttccaGctcttgcagacgaagctggc	5	9	12	15	3	1	1	0	0	1	1	2	2	2	1	3	3	4	4	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136412159G>C	ENST00000393061.3	+	9	1522		c.e9-1		ADAMTSL2_ENST00000393060.1_Splice_Site|ADAMTSL2_ENST00000354484.4_Splice_Site			Q86TH1	ATL2_HUMAN	ADAMTS-like 2						negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(145;9.31e-08)|Epithelial(140;6.62e-07)|all cancers(34;7.74e-06)		TGCCCTTCCAGCTCTTGCAGA	0.587													C	136412159	G	C	136412159	5	2	364	1	0	0	0	0	0	0	1	0	275	985	34	4	793	4	ADAMTSL2	9	136412159	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6153	136412159	4801272	7614	31116											
DBH	1621	broad.mit.edu	37	chr9	136505010	136505010	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagatccacctggatcccCagcaggactaccagctgctg	9	6	11	15	0	0	1	0	0	0	1	2	3	2	3	5	3	4	4	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136505010C>T	ENST00000393056.2	+	2	394	c.382C>T	c.(382-384)Cag>Tag	p.Q128*		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	128	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CCTGGATCCCCAGCAGGACTA	0.612													T	136505010	C	T	136505010	4	4	364	1	0	0	0	0	0	1	0	0	4284	595	21	2	388	2	DBH	9	136505010	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92851	136505010	4708421	7615	31117											
SARDH	1757	broad.mit.edu	37	chr9	136531992	136531992	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccaaacatgggtactttGctggaagaagcagtagagaa	15	7	13	6	0	0	2	0	0	0	2	0	4	0	3	1	3	4	4	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136531992G>A	ENST00000371872.4	-	20	2753	c.2496C>T	c.(2494-2496)gaC>gaT	p.D832D	SARDH_ENST00000371868.1_Silent_p.S282S|SARDH_ENST00000439388.1_Splice_Site_p.D832D|SARDH_ENST00000469828.1_5'UTR|SARDH_ENST00000422262.2_Splice_Site_p.D664D	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	832					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		TGGGTACTTTGCTGGAAGAAG	0.617													A	136531992	G	A	136531992	5	1	364	1	0	0	0	0	0	0	1	0	13933	1333	46	2	268	2	SARDH	9	136531992	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26982	136531992	4681439	7616	31118											
SARDH	1757	broad.mit.edu	37	chr9	136568090	136568090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcgtctgccagcagcctgCggtaggcgtagtcctcgtgc	5	9	13	14	4	1	0	0	0	1	0	4	0	2	0	3	2	5	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136568090C>T	ENST00000371872.4	-	13	1873	c.1616G>A	c.(1615-1617)cGc>cAc	p.R539H	SARDH_ENST00000371868.1_5'UTR|SARDH_ENST00000439388.1_Missense_Mutation_p.R539H|SARDH_ENST00000422262.2_Missense_Mutation_p.R371H	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	539					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		CAGCAGCCTGCGGTAGGCGTA	0.652													T	136568090	C	T	136568090	3	4	364	1	0	0	0	0	1	0	0	0	13933	768	27	1	1176	1	SARDH	9	136568090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36098	136568090	4645341	7617	31119											
VAV2	7410	broad.mit.edu	37	chr9	136661642	136661642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctggaccttcagtgtgCactcctgggagggcgacagg	7	8	14	12	1	1	0	1	0	0	0	3	3	3	2	3	4	1	1	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136661642C>T	ENST00000371851.1	-	10	1251	c.926G>A	c.(925-927)tGc>tAc	p.C309Y	VAV2_ENST00000371850.3_Missense_Mutation_p.C314Y|VAV2_ENST00000406606.3_Missense_Mutation_p.C309Y			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	314	DH.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTCAGTGTGCACTCCTGGGA	0.607													T	136661642	C	T	136661642	3	4	364	1	0	0	0	0	1	0	0	0	17234	710	25	2	1775	2	VAV2	9	136661642	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93552	136661642	4551789	7618	31120											
BRD3	8019	broad.mit.edu	37	chr9	136901379	136901379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttttcatcgtagctcatggGcaggccctcctcctcttcct	4	14	7	16	1	3	0	2	0	1	0	7	0	6	0	4	2	1	3	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901379G>A	ENST00000303407.7	-	10	1896	c.1711C>T	c.(1711-1713)Ccc>Tcc	p.P571S	BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	571						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		TAGCTCATGGGCAGGCCCTCC	0.607			T	C15orf55	lethal midline carcinoma of young people								A	136901379	G	A	136901379	3	1	364	1	0	0	0	0	1	0	0	0	1512	1203	42	2	481	2	BRD3	9	136901379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239737	136901379	4312052	7619	31121											
BRD3	8019	broad.mit.edu	37	chr9	136901413	136901413	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctctgagtcgtaggaGgcagatgcctgcttgccgcc	5	11	12	13	2	2	2	0	1	2	1	4	3	3	3	4	2	3	3	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136901413G>T	ENST00000303407.7	-	10	1862	c.1677C>A	c.(1675-1677)gcC>gcA	p.A559A	BRD3_ENST00000371834.2_3'UTR|BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	559						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AGTCGTAGGAGGCAGATGCCT	0.612			T	C15orf55	lethal midline carcinoma of young people								T	136901413	G	T	136901413	2	4	364	1	0	0	0	0	0	0	0	1	1512	987	35	4		4	BRD3	9	136901413	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	136901413	4312018	7620	31122											
BRD3	8019	broad.mit.edu	37	chr9	136906967	136906967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagagctctcctcactgctaCggctgctctcagcgcccttg	6	10	9	16	2	3	1	2	0	2	1	5	1	3	1	2	1	5	4	2	1	2	2	rs56017928	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:136906967C>T	ENST00000303407.7	-	8	1507	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H	BRD3_ENST00000371834.2_Missense_Mutation_p.R441H|BRD3_ENST00000357885.2_Missense_Mutation_p.R441H	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	441			R -> H (in dbSNP:rs56017928).			nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCACTGCTACGGCTGCTCTC	0.672			T	C15orf55	lethal midline carcinoma of young people								T	136906967	C	T	136906967	3	4	364	1	0	0	0	0	1	0	0	0	1512	536	19	1	878	1	BRD3	9	136906967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5554	136906967	4306464	7621	31123											
COL5A1	1289	broad.mit.edu	37	chr9	137591761	137591761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctctgttccagcgtctgCatttcccgaggacttctcca	5	13	9	14	2	3	0	0	0	3	0	6	2	5	1	3	1	3	3	3	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137591761C>T	ENST00000371817.3	+	3	698	c.284C>T	c.(283-285)gCa>gTa	p.A95V	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	95	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCAGCGTCTGCATTTCCCGAG	0.577													T	137591761	C	T	137591761	3	4	364	1	0	0	0	0	1	0	0	0	3727	710	25	2	294	2	COL5A1	9	137591761	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	684794	137591761	3621670	7622	31124											
COL5A1	1289	broad.mit.edu	37	chr9	137593154	137593154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcatcgtgtttggcacccGgatcctggatgaggaggtgt	7	11	14	9	2	1	1	1	1	0	0	3	4	2	4	2	5	0	2	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:137593154G>A	ENST00000371817.3	+	4	1043	c.629G>A	c.(628-630)cGg>cAg	p.R210Q	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	210	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		TTTGGCACCCGGATCCTGGAT	0.567													A	137593154	G	A	137593154	3	1	364	1	0	0	0	0	1	0	0	0	3727	1116	39	1	643	1	COL5A1	9	137593154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1393	137593154	3620277	7623	31125											
OLFM1	10439	broad.mit.edu	37	chr9	138011443	138011443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacaatttcacctcccacCgtctcccccacccctggtcg	6	8	6	21	3	2	0	1	0	1	0	5	1	3	1	7	2	0	0	7	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138011443C>T	ENST00000252854.4	+	6	1010	c.823C>T	c.(823-825)Cgt>Tgt	p.R275C	OLFM1_ENST00000371796.3_Missense_Mutation_p.R266C|OLFM1_ENST00000371793.3_Missense_Mutation_p.R293C	NM_014279.4	NP_055094.1	Q99784	NOE1_HUMAN	olfactomedin 1	293	Olfactomedin-like.				nervous system development	endoplasmic reticulum lumen	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(2)	21		Myeloproliferative disorder(178;0.0333)		Epithelial(140;5.49e-08)|OV - Ovarian serous cystadenocarcinoma(145;9.68e-08)|all cancers(34;1.88e-07)		CACCTCCCACCGTCTCCCCCA	0.527													T	138011443	C	T	138011443	3	4	364	1	0	0	0	0	1	0	0	0	10928	652	23	1	855	1	OLFM1	9	138011443	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	418289	138011443	3201988	7624	31126											
MRPS2	51116	broad.mit.edu	37	chr9	138395863	138395863	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccagacggccatcaccCgggccaaggagaagcggcag	10	4	13	14	3	2	2	1	0	1	2	3	3	3	2	4	4	1	1	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395863C>G	ENST00000371785.1	+	5	984	c.775C>G	c.(775-777)Cgg>Ggg	p.R259G	MRPS2_ENST00000241600.5_Missense_Mutation_p.R259G|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	259					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		GGCCATCACCCGGGCCAAGGA	0.652													G	138395863	C	G	138395863	3	3	364	1	0	0	0	0	1	0	0	0	9907	643	23	4	789	4	MRPS2	9	138395863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	384420	138395863	2817568	7625	31127											
MRPS2	51116	broad.mit.edu	37	chr9	138395910	138395910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctctctatcgcctgcaGggccagaaggagcccgggga	8	5	16	12	2	1	1	0	0	1	1	3	4	1	3	3	5	2	2	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138395910G>T	ENST00000371785.1	+	5	1031	c.822G>T	c.(820-822)caG>caT	p.Q274H	MRPS2_ENST00000241600.5_Missense_Mutation_p.Q274H|RP11-426A6.5_ENST00000415062.1_RNA			Q9Y399	RT02_HUMAN	mitochondrial ribosomal protein S2	274					translation	mitochondrion|small ribosomal subunit	structural constituent of ribosome			large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;1.46e-53)|Epithelial(140;2.04e-47)|all cancers(34;1.23e-42)		ATCGCCTGCAGGGCCAGAAGG	0.637													T	138395910	G	T	138395910	3	4	364	1	0	0	0	0	1	0	0	0	9907	991	35	4	836	4	MRPS2	9	138395910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47	138395910	2817521	7626	31128											
KCNT1	57582	broad.mit.edu	37	chr9	138662884	138662884	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagggccttctcggggCaggggctgcacgagggtccg	7	5	19	10	3	1	2	0	0	1	2	3	3	2	2	2	6	1	3	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138662884C>T	ENST00000298480.5	+	18	2025	c.1951C>T	c.(1951-1953)Cag>Tag	p.Q651*	KCNT1_ENST00000371757.2_Nonsense_Mutation_p.Q651*|KCNT1_ENST00000490355.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000491806.2_Nonsense_Mutation_p.Q618*|KCNT1_ENST00000487664.1_Nonsense_Mutation_p.Q606*|KCNT1_ENST00000488444.2_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000263604.3_Nonsense_Mutation_p.Q632*|KCNT1_ENST00000486577.2_Nonsense_Mutation_p.Q612*			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	651						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTTCTCGGGGCAGGGGCTGCA	0.647													T	138662884	C	T	138662884	4	4	364	1	0	0	0	0	0	1	0	0	8149	711	25	2	2021	2	KCNT1	9	138662884	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266974	138662884	2550547	7627	31129											
KCNT1	57582	broad.mit.edu	37	chr9	138671301	138671301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacagctactctctggctctTtccaaactagaaaaggtgag	12	10	9	10	0	2	2	0	1	2	1	4	3	3	2	1	2	3	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138671301T>C	ENST00000298480.5	+	24	2900	c.2826T>C	c.(2824-2826)ctT>ctC	p.L942L	KCNT1_ENST00000371757.2_Silent_p.L942L|KCNT1_ENST00000490355.2_Silent_p.L921L|KCNT1_ENST00000491806.2_Silent_p.L909L|KCNT1_ENST00000487664.1_Silent_p.L897L|KCNT1_ENST00000488444.2_Silent_p.L923L|KCNT1_ENST00000263604.3_Silent_p.L923L|KCNT1_ENST00000486577.2_Silent_p.L901L			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	942						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTCTGGCTCTTTCCAAACTAG	0.607													C	138671301	T	C	138671301	2	2	364	1	0	0	0	0	0	0	0	1	8149	1828	64	3		3	KCNT1	9	138671301	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8417	138671301	2542130	7628	31130											
CAMSAP1	157922	broad.mit.edu	37	chr9	138707005	138707005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcagcaatgggatatggCattgtgaataatcggcttgt	11	11	13	6	1	0	1	0	1	0	0	1	2	0	2	0	4	1	4	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138707005C>T	ENST00000389532.4	-	16	4508	c.4444G>A	c.(4444-4446)Gcc>Acc	p.A1482T	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.A1493T|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.A1204T|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1482	CKK.					cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGGGATATGGCATTGTGAATA	0.413													T	138707005	C	T	138707005	3	4	364	1	0	0	0	0	1	0	0	0	2637	710	25	2	372	2	CAMSAP1	9	138707005	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35704	138707005	2506426	7629	31131											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713121	138713121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctcaagtgcgggagcGtctctacactgggcgttggg	6	9	17	9	3	2	0	1	0	2	0	4	1	2	1	0	4	3	1	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:138713121G>A	ENST00000389532.4	-	11	3450	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.T1140M|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.T851M|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1129						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GTGCGGGAGCGTCTCTACACT	0.662													A	138713121	G	A	138713121	3	1	364	1	0	0	0	0	1	0	0	0	2637	1145	40	1	1450	1	CAMSAP1	9	138713121	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6116	138713121	2500310	7630	31132											
CARD9	64170	broad.mit.edu	37	chr9	139264250	139264250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgcagcaggatggcctcGatgcggtccttgtacatctt	7	12	11	11	2	2	0	0	0	2	0	4	2	3	1	2	3	4	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139264250G>A	ENST00000371732.5	-	7	1194	c.1029C>T	c.(1027-1029)atC>atT	p.I343I	CARD9_ENST00000315908.7_Silent_p.I343I|CARD9_ENST00000371734.3_Silent_p.I343I	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	343					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		GGATGGCCTCGATGCGGTCCT	0.637													A	139264250	G	A	139264250	2	1	364	1	0	0	0	0	0	0	0	1	2678	1048	37	1		1	CARD9	9	139264250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551129	139264250	1949181	7631	31133											
CARD9	64170	broad.mit.edu	37	chr9	139265507	139265507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaagtcatctttggagCtcagcagcgcggtcaggtcc	8	10	13	10	2	4	2	3	2	1	0	5	3	5	3	1	3	3	2	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139265507C>T	ENST00000371732.5	-	4	578	c.413G>A	c.(412-414)aGc>aAc	p.S138N	CARD9_ENST00000315908.7_Missense_Mutation_p.S138N|CARD9_ENST00000371734.3_Missense_Mutation_p.S138N	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	138					positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		ATCTTTGGAGCTCAGCAGCGC	0.622													T	139265507	C	T	139265507	3	4	364	1	0	0	0	0	1	0	0	0	2678	797	28	2	1290	2	CARD9	9	139265507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1257	139265507	1947924	7632	31134											
SNAPC4	6621	broad.mit.edu	37	chr9	139278098	139278098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacgggccctccgccgcCgcctccggagaccctgcttc	3	7	12	19	5	0	2	0	1	0	1	3	3	2	2	7	2	1	1	7	2	0	1	rs145651274		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139278098C>T	ENST00000298532.2	-	15	1891	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	508					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CCTCCGCCGCCGCCTCCGGAG	0.657													T	139278098	C	T	139278098	3	4	364	1	0	0	0	0	1	0	0	0	14931	652	23	1	2918	1	SNAPC4	9	139278098	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12591	139278098	1935333	7633	31135											
SNAPC4	6621	broad.mit.edu	37	chr9	139290161	139290161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtttctgggtcttcaGggagggttttatccttggga	5	14	16	6	0	3	0	1	0	2	0	4	2	4	2	1	6	0	3	1	6	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139290161G>T	ENST00000298532.2	-	3	607	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_003086.2	NP_003077.2	Q5SXM2	SNPC4_HUMAN	small nuclear RNA activating complex, polypeptide 4, 190kDa	80					snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGGGTCTTCAGGGAGGGTTTT	0.567													T	139290161	G	T	139290161	3	4	364	1	0	0	0	0	1	0	0	0	14931	1000	35	4	4250	4	SNAPC4	9	139290161	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12063	139290161	1923270	7634	31136											
SEC16A	9919	broad.mit.edu	37	chr9	139341773	139341773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccggctcgctccgctgggtCccgcttgggttcaggacgtc	2	9	15	15	5	1	0	1	0	0	0	5	1	3	1	3	4	0	5	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139341773C>T	ENST00000313050.7	-	25	6676	c.6603G>A	c.(6601-6603)ggG>ggA	p.G2201G	SEC16A_ENST00000371706.3_Silent_p.G2023G|SEC16A_ENST00000290037.6_Silent_p.G2023G|SEC16A_ENST00000313084.5_Silent_p.G207G|SEC16A_ENST00000431893.2_Silent_p.G2023G|SEC16A_ENST00000398335.1_3'UTR	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2023					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		TCCGCTGGGTCCCGCTTGGGT	0.612													T	139341773	C	T	139341773	2	4	364	1	0	0	0	0	0	0	0	1	14079	842	30	2		2	SEC16A	9	139341773	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51612	139341773	1871658	7635	31137											
SEC16A	9919	broad.mit.edu	37	chr9	139371902	139371902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcctgtctactaaaagCaaatggatccgtgaccggct	11	8	11	11	3	1	1	0	1	1	0	2	3	2	2	3	2	3	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139371902C>T	ENST00000313050.7	-	1	239	c.166G>A	c.(166-168)Gct>Act	p.A56T		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	2023					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CTACTAAAAGCAAATGGATCC	0.562													T	139371902	C	T	139371902	3	4	364	1	0	0	0	0	1	0	0	0	14079	710	25	2	7027	2	SEC16A	9	139371902	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30129	139371902	1841529	7636	31138											
NOTCH1	4851	broad.mit.edu	37	chr9	139391863	139391863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgtccagcagcctcaCgatgtcgtgatgcatgcgct	7	10	11	13	4	1	1	1	1	0	0	4	2	2	1	2	0	5	4	2	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139391863C>T	ENST00000277541.6	-	34	6403	c.6328G>A	c.(6328-6330)Gtg>Atg	p.V2110M		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2110					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGCAGCCTCACGATGTCGTGA	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139391863	C	T	139391863	3	4	364	1	0	0	0	0	1	0	0	0	10623	536	19	1	1343	1	NOTCH1	9	139391863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19961	139391863	1821568	7637	31139											
NOTCH1	4851	broad.mit.edu	37	chr9	139393414	139393414	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaactgcggcatccacattGttcacggcggcggcccagtg	8	7	12	14	4	1	0	1	0	0	0	2	0	2	0	2	4	2	2	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393414G>A	ENST00000277541.6	-	33	6192	c.6117C>T	c.(6115-6117)aaC>aaT	p.N2039N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2039					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CATCCACATTGTTCACGGCGG	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139393414	G	A	139393414	2	1	364	1	0	0	0	0	0	0	0	1	10623	1368	48	2		2	NOTCH1	9	139393414	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1551	139393414	1820017	7638	31140											
NOTCH1	4851	broad.mit.edu	37	chr9	139393669	139393669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtggcgtcgtgccatcatGcatgcgggcatccaggtctg	6	9	14	12	3	2	0	1	0	1	0	4	0	3	0	2	3	3	2	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139393669G>A	ENST00000277541.6	-	32	6052	c.5977C>T	c.(5977-5979)Cat>Tat	p.H1993Y		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1993					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGCCATCATGCATGCGGGCA	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139393669	G	A	139393669	3	1	364	1	0	0	0	0	1	0	0	0	10623	1319	46	2	1702	2	NOTCH1	9	139393669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255	139393669	1819762	7639	31141											
NOTCH1	4851	broad.mit.edu	37	chr9	139395022	139395022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggaagacaccttgtgcGtcggcagacacagccgcatg	10	6	12	13	3	0	2	0	0	0	2	1	3	0	3	3	2	2	2	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139395022G>A	ENST00000277541.6	-	31	5991	c.5916C>T	c.(5914-5916)gaC>gaT	p.D1972D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1972					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACCTTGTGCGTCGGCAGACA	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139395022	G	A	139395022	2	1	364	1	0	0	0	0	0	0	0	1	10623	1136	40	1		1	NOTCH1	9	139395022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1353	139395022	1818409	7640	31142											
NOTCH1	4851	broad.mit.edu	37	chr9	139396309	139396309	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcatccaggtgctgctgagtCcactgccggtggtctgtctg	4	11	14	12	1	2	1	0	1	2	0	4	1	4	1	3	3	3	3	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139396309C>T	ENST00000277541.6	-	30	5604	c.5529G>A	c.(5527-5529)tgG>tgA	p.W1843*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1843					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.W1844*(1)|p.W1843*(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGCTGAGTCCACTGCCGGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139396309	C	T	139396309	4	4	364	1	0	0	0	0	0	1	0	0	10623	856	30	2	2158	2	NOTCH1	9	139396309	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1287	139396309	1817122	7641	31143											
NOTCH1	4851	broad.mit.edu	37	chr9	139397687	139397687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcccagcgaggcgagcGctcccaggaatgcggccacg	7	3	16	15	5	0	0	0	0	0	0	1	3	1	1	3	4	4	2	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397687G>A	ENST00000277541.6	-	27	5189	c.5114C>T	c.(5113-5115)gCg>gTg	p.A1705V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1705					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGAGGCGAGCGCTCCCAGGAA	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139397687	G	A	139397687	3	1	364	1	0	0	0	0	1	0	0	0	10623	1087	38	1	2585	1	NOTCH1	9	139397687	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1378	139397687	1815744	7642	31144											
NOTCH1	4851	broad.mit.edu	37	chr9	139397730	139397730	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcactctggaagcactGcgaggaggcctgcacacact	9	6	14	12	1	1	0	0	0	1	0	1	3	1	2	1	5	3	3	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139397730G>A	ENST00000277541.6	-	27	5146	c.5071C>T	c.(5071-5073)Cag>Tag	p.Q1691*		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1691					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGAAGCACTGCGAGGAGGCC	0.637			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139397730	G	A	139397730	4	1	364	1	0	0	0	0	0	1	0	0	10623	1328	46	2	2628	2	NOTCH1	9	139397730	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	139397730	1815701	7643	31145											
NOTCH1	4851	broad.mit.edu	37	chr9	139413915	139413915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtccactctggcgggcagCggcagttgtaggtgttcacg	5	10	15	11	3	2	0	1	0	1	0	3	0	3	0	1	4	1	5	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139413915C>T	ENST00000277541.6	-	5	920	c.845G>A	c.(844-846)cGc>cAc	p.R282H		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	282	EGF-like 7; calcium-binding (Potential).			R -> P (in Ref. 1; AAG33848 and 3; AAA60614).	aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGCGGGCAGCGGCAGTTGTA	0.607			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139413915	C	T	139413915	3	4	364	1	0	0	0	0	1	0	0	0	10623	768	27	1	6942	1	NOTCH1	9	139413915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16185	139413915	1799516	7644	31146											
FAM69B	138311	broad.mit.edu	37	chr9	139617871	139617871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctacgacttcaagatggCcgacctgcagcaggtggcac	10	6	11	14	2	1	1	1	0	0	1	1	3	1	1	3	3	3	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139617871C>T	ENST00000371691.1	+	3	1779	c.680C>T	c.(679-681)gCc>gTc	p.A227V	SNHG7_ENST00000414282.1_RNA|FAM69B_ENST00000371692.4_Missense_Mutation_p.A314V			Q5VUD6	FA69B_HUMAN	family with sequence similarity 69, member B	314						endoplasmic reticulum membrane|integral to membrane				NS(1)|endometrium(3)|large_intestine(2)|lung(1)|prostate(1)	8	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;1.03e-05)|Epithelial(140;0.00013)		TTCAAGATGGCCGACCTGCAG	0.647													T	139617871	C	T	139617871	3	4	364	1	0	0	0	0	1	0	0	0	5653	739	26	2	959	2	FAM69B	9	139617871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203956	139617871	1595560	7645	31147											
LCN8	138307	broad.mit.edu	37	chr9	139651520	139651520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccttcacggtcaggttaCtcccgctcaaggtgaggaac	10	8	10	13	2	3	1	3	1	0	0	4	2	4	2	2	4	3	2	2	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139651520C>T	ENST00000371688.3	-	2	420	c.125G>A	c.(124-126)aGt>aAt	p.S42N	LCN8_ENST00000482893.1_5'UTR	NM_178469.3	NP_848564.2	Q6JVE9	LCN8_HUMAN	lipocalin 8	65					transport	extracellular region	binding			endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)	10	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;5.56e-06)|Epithelial(140;8.32e-05)		GGTCAGGTTACTCCCGCTCAA	0.612													T	139651520	C	T	139651520	3	4	364	1	0	0	0	0	1	0	0	0	8745	565	20	2	357	2	LCN8	9	139651520	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33649	139651520	1561911	7646	31148											
KIAA1984	84960	broad.mit.edu	37	chr9	139697115	139697115	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagaaccccattcaacacaGgtgctggcaggataccccat	13	6	9	13	0	1	1	1	0	0	1	1	3	1	2	4	3	4	2	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139697115G>T	ENST00000338005.6	+	6	578		c.e6-1		RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984_ENST00000371682.3_Splice_Site	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984											biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		ATTCAACACAGGTGCTGGCAG	0.537													T	139697115	G	T	139697115	5	4	364	1	0	0	0	0	0	0	1	0	8324	1014	35	4	565	4	KIAA1984	9	139697115	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45595	139697115	1516316	7647	31149											
KIAA1984	84960	broad.mit.edu	37	chr9	139701208	139701208	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctcctcccggcctacaGagagaagtggtgctctccaa	9	7	10	15	1	1	2	0	0	1	2	4	4	3	2	5	2	2	1	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139701208G>T	ENST00000338005.6	+	12	1313		c.e12-1		RP11-216L13.18_ENST00000471502.1_RNA|RP11-216L13.19_ENST00000415992.1_RNA|KIAA1984-AS1_ENST00000414656.1_RNA	NM_001039374.4	NP_001034463.4	Q5T5S1	K1984_HUMAN	KIAA1984											biliary_tract(1)|breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	13	all_cancers(76;0.0882)|all_epithelial(76;0.228)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.33e-06)|Epithelial(140;0.000124)		CCGGCCTACAGAGAGAAGTGG	0.617													T	139701208	G	T	139701208	5	4	364	1	0	0	0	0	0	0	1	0	8324	956	33	4	1324	4	KIAA1984	9	139701208	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4093	139701208	1512223	7648	31150											
C9orf172	389813	broad.mit.edu	37	chr9	139741107	139741107	+	Silent	SNP	C	C	T																															cgtgtcggcttcctgtcgcgCggccgcggcgtgctcttcct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741107C>T	ENST00000436881.1	+	1	2241	c.2241C>T	c.(2239-2241)cgC>cgT	p.R747R		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	747										endometrium(2)|large_intestine(1)|lung(6)	9						TCCTGTCGCGCGGCCGCGGCG	0.687													T	139741107	C	T	139741107	2	4	364	1	0	0	0	0	0	0	0	1	2497	755	27	1		1	C9orf172	9	139741107	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39899	139741107	1472324	7649	31151	75	2									
C9orf172	389813	broad.mit.edu	37	chr9	139741114	139741114	+	Missense_Mutation	SNP	G	G	A																															gcttcctgtcgcgcggccgcGgcgtgctcttcctgggcttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741114G>A	ENST00000436881.1	+	1	2248	c.2248G>A	c.(2248-2250)Ggc>Agc	p.G750S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	750										endometrium(2)|large_intestine(1)|lung(6)	9						GCGCGGCCGCGGCGTGCTCTT	0.687													A	139741114	G	A	139741114	3	1	364	1	0	0	0	0	1	0	0	0	2497	1116	39	1	2250	1	C9orf172	9	139741114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7	139741114	1472317	7650	31152	75	2									
C9orf172	389813	broad.mit.edu	37	chr9	139741209	139741209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatcccccacctacctatcGctgcgtgagctggccacaca	8	8	7	18	2	0	1	0	1	0	0	2	1	1	1	5	1	3	2	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139741209G>A	ENST00000436881.1	+	1	2343	c.2343G>A	c.(2341-2343)tcG>tcA	p.S781S		NM_001080482.2	NP_001073951.2	C9J069	CI172_HUMAN	chromosome 9 open reading frame 172	781										endometrium(2)|large_intestine(1)|lung(6)	9						CCTACCTATCGCTGCGTGAGC	0.697													A	139741209	G	A	139741209	2	1	364	1	0	0	0	0	0	0	0	1	2497	1074	38	1		1	C9orf172	9	139741209	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	139741209	1472222	7651	31153											
EDF1	8721	broad.mit.edu	37	chr9	139758285	139758285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctacatttcttggaagtCtccacatcttctcctcgtct	7	16	4	14	1	5	0	0	0	5	0	8	1	5	1	3	1	2	0	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139758285C>A	ENST00000371648.4	-	2	124	c.117G>T	c.(115-117)gaG>gaT	p.E39D	EDF1_ENST00000371649.1_Missense_Mutation_p.E39D|EDF1_ENST00000224073.1_Missense_Mutation_p.E39D	NM_153200.1	NP_694880.1	O60869	EDF1_HUMAN	endothelial differentiation-related factor 1	39	Interaction with NR5A2, PPARG and NR1H3.				endothelial cell differentiation|multicellular organismal development|positive regulation of DNA binding|positive regulation of transcription, DNA-dependent|regulation of lipid metabolic process|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	calmodulin binding|protein binding|sequence-specific DNA binding|transcription coactivator activity			lung(1)	1	all_cancers(76;0.0841)|all_epithelial(76;0.217)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		TCTTGGAAGTCTCCACATCTT	0.507													A	139758285	C	A	139758285	3	1	364	1	0	0	0	0	1	0	0	0	4953	912	32	4	380	4	EDF1	9	139758285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17076	139758285	1455146	7652	31154											
FBXW5	54461	broad.mit.edu	37	chr9	139835906	139835906	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccaggcgcggctgttcacGtacaggtacctgggcgaggg	6	6	18	11	4	1	0	1	0	0	0	1	1	1	0	2	6	2	4	2	6	2	3	rs112814747		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139835906G>A	ENST00000325285.3	-	8	1333	c.1254C>T	c.(1252-1254)taC>taT	p.Y418Y	FBXW5_ENST00000483559.1_5'UTR	NM_018998.3	NP_061871.1	Q969U6	FBXW5_HUMAN	F-box and WD repeat domain containing 5	418							catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	12	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;7.8e-06)|Epithelial(140;0.000106)		GGCTGTTCACGTACAGGTACC	0.682													A	139835906	G	A	139835906	2	1	364	1	0	0	0	0	0	0	0	1	5817	1140	40	1		1	FBXW5	9	139835906	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77621	139835906	1377525	7653	31155											
PTGDS	5730	broad.mit.edu	37	chr9	139873514	139873514	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgggagaagaaggcggcgTtgtccatgtgcaagtctgtg	8	9	16	8	3	1	2	0	0	1	2	3	3	3	2	2	3	1	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139873514T>C	ENST00000224167.2	+	2	259	c.184T>C	c.(184-186)Ttg>Ctg	p.L62L	PTGDS_ENST00000460340.1_3'UTR|PTGDS_ENST00000371625.3_Silent_p.L62L			P41222	PTGDS_HUMAN	prostaglandin D2 synthase 21kDa (brain)	62					prostaglandin biosynthetic process|regulation of circadian sleep/wake cycle, sleep	Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum	fatty acid binding|prostaglandin-D synthase activity|retinoid binding|transporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.19)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GAAGGCGGCGTTGTCCATGTG	0.687													C	139873514	T	C	139873514	2	2	364	1	0	0	0	0	0	0	0	1	12827	1722	60	3		3	PTGDS	9	139873514	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37608	139873514	1339917	7654	31156											
ABCA2	20	broad.mit.edu	37	chr9	139910430	139910430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgtccatctctctgcGgatctcctcctgagccatgc	5	12	7	17	1	3	1	0	1	3	0	7	2	5	2	5	1	3	0	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139910430G>A	ENST00000265662.5	-	22	3448	c.3301C>T	c.(3301-3303)Cgc>Tgc	p.R1101C	ABCA2_ENST00000371605.3_Missense_Mutation_p.R1100C|ABCA2_ENST00000341511.6_Missense_Mutation_p.R1101C			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1100	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		ATCTCTCTGCGGATCTCCTCC	0.662													A	139910430	G	A	139910430	3	1	364	1	0	0	0	0	1	0	0	0	32	1116	39	1	4121	1	ABCA2	9	139910430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36916	139910430	1303001	7655	31157											
ABCA2	20	broad.mit.edu	37	chr9	139911711	139911711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctctcggatcgccacgtaCatgtagggcacgtagctcag	8	9	11	13	4	2	0	1	0	1	0	5	1	3	1	2	2	2	5	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:139911711C>T	ENST00000265662.5	-	18	2637	c.2490G>A	c.(2488-2490)atG>atA	p.M830I	ABCA2_ENST00000371605.3_Missense_Mutation_p.M829I|ABCA2_ENST00000341511.6_Missense_Mutation_p.M830I			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	829					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCGCCACGTACATGTAGGGCA	0.647													T	139911711	C	T	139911711	3	4	364	1	0	0	0	0	1	0	0	0	32	478	17	2	4948	2	ABCA2	9	139911711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1281	139911711	1301720	7656	31158											
ANAPC2	29882	broad.mit.edu	37	chr9	140074825	140074825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcattgatgcggcgggaGtccgccatgtcctgaggagg	6	9	17	9	3	0	2	0	2	0	0	2	4	2	4	3	5	1	1	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140074825G>A	ENST00000323927.2	-	10	1702	c.1698C>T	c.(1696-1698)gaC>gaT	p.D566D		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	566					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		TGCGGCGGGAGTCCGCCATGT	0.667													A	140074825	G	A	140074825	2	1	364	1	0	0	0	0	0	0	0	1	603	1020	36	2		2	ANAPC2	9	140074825	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163114	140074825	1138606	7657	31159											
ANAPC2	29882	broad.mit.edu	37	chr9	140082371	140082371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggggctcatccgcaGagttctcgcattgggagatg	7	9	15	10	2	2	2	1	0	1	2	4	3	3	2	1	4	0	5	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140082371G>T	ENST00000323927.2	-	2	306	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	101					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		CTCATCCGCAGAGTTCTCGCA	0.582													T	140082371	G	T	140082371	3	4	364	1	0	0	0	0	1	0	0	0	603	942	33	4	2214	4	ANAPC2	9	140082371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7546	140082371	1131060	7658	31160											
ENTPD8	377841	broad.mit.edu	37	chr9	140331418	140331418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccaaaagtccacgggaGaccggcccaggacctgggtg	10	3	13	15	2	0	1	0	0	0	1	1	3	1	2	6	4	0	0	6	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140331418G>T	ENST00000371506.2	-	5	641	c.458C>A	c.(457-459)tCt>tAt	p.S153Y	ENTPD8_ENST00000344119.2_Missense_Mutation_p.S153Y|ENTPD8_ENST00000472938.1_Missense_Mutation_p.S153Y	NM_001033113.1	NP_001028285.1	Q5MY95	ENTP8_HUMAN	ectonucleoside triphosphate diphosphohydrolase 8	153						integral to membrane|plasma membrane	ATP binding			biliary_tract(1)|lung(4)|prostate(1)|skin(1)	7	all_cancers(76;0.0926)			OV - Ovarian serous cystadenocarcinoma(145;0.000224)|Epithelial(140;0.000898)		GTCCACGGGAGACCGGCCCAG	0.642													T	140331418	G	T	140331418	3	4	364	1	0	0	0	0	1	0	0	0	5186	942	33	4	1053	4	ENTPD8	9	140331418	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249047	140331418	882013	7659	31161											
PNPLA7	375775	broad.mit.edu	37	chr9	140355145	140355145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtatgcatccctggggaCgtccagcagctcctcctcgt	5	10	11	15	3	0	0	0	0	0	0	5	1	4	1	4	2	4	4	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140355145C>T	ENST00000406427.1	-	34	4222	c.3886G>A	c.(3886-3888)Gtc>Atc	p.V1296I	PNPLA7_ENST00000371457.1_Missense_Mutation_p.V877I|PNPLA7_ENST00000277531.4_Missense_Mutation_p.V1271I|PNPLA7_ENST00000492278.1_5'UTR	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1271					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		TCCCTGGGGACGTCCAGCAGC	0.632													T	140355145	C	T	140355145	3	4	364	1	0	0	0	0	1	0	0	0	12247	536	19	1	150	1	PNPLA7	9	140355145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23727	140355145	858286	7660	31162											
MRPL41	64975	broad.mit.edu	37	chr9	140446582	140446582	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtccggggtgcggacCgaatgagcaagtggacgagc	8	5	18	10	4	0	1	0	1	0	0	1	5	1	3	3	5	3	1	3	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140446582C>T	ENST00000371443.5	+	2	837	c.49C>T	c.(49-51)Cga>Tga	p.R17*		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	17					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		GGGTGCGGACCGAATGAGCAA	0.751													T	140446582	C	T	140446582	4	4	364	1	0	0	0	0	0	1	0	0	9881	644	23	1	51	1	MRPL41	9	140446582	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91437	140446582	766849	7661	31163											
EHMT1	79813	broad.mit.edu	37	chr9	140611261	140611261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaccaacacactaactcGgatagcggaaaatggggttt	13	8	11	9	2	0	0	0	0	0	0	1	2	0	2	1	5	3	2	1	5	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140611261G>A	ENST00000460843.1	+	3	296	c.269G>A	c.(268-270)cGg>cAg	p.R90Q	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R90Q|EHMT1_ENST00000334856.6_Missense_Mutation_p.R59Q	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	90					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		ACACTAACTCGGATAGCGGAA	0.527													A	140611261	G	A	140611261	3	1	364	1	0	0	0	0	1	0	0	0	5022	1116	39	1	279	1	EHMT1	9	140611261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164679	140611261	602170	7662	31164											
EHMT1	79813	broad.mit.edu	37	chr9	140669648	140669648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgctgtgtgaagaccacCggggccgcatggtgaagcac	8	7	15	11	3	0	3	0	2	0	1	1	3	0	3	3	3	2	3	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140669648C>T	ENST00000460843.1	+	11	1762	c.1735C>T	c.(1735-1737)Cgg>Tgg	p.R579W	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000462484.1_Missense_Mutation_p.R579W|EHMT1_ENST00000334856.6_Missense_Mutation_p.R548W	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	579					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		TGAAGACCACCGGGGCCGCAT	0.617													T	140669648	C	T	140669648	3	4	364	1	0	0	0	0	1	0	0	0	5022	643	23	1	1777	1	EHMT1	9	140669648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58387	140669648	543783	7663	31165											
EHMT1	79813	broad.mit.edu	37	chr9	140685395	140685395	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcagtgaagtacctcatCaaggctggggccctggtgga	10	7	15	9	0	2	1	2	1	0	0	2	3	2	2	2	5	2	3	2	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140685395C>T	ENST00000460843.1	+	16	2505	c.2478C>T	c.(2476-2478)atC>atT	p.I826I	EHMT1_ENST00000371394.2_3'UTR|EHMT1_ENST00000334856.6_Silent_p.I795I	NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	826					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		AGTACCTCATCAAGGCTGGGG	0.527													T	140685395	C	T	140685395	2	4	364	1	0	0	0	0	0	0	0	1	5022	816	29	2		2	EHMT1	9	140685395	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15747	140685395	528036	7664	31166											
EHMT1	79813	broad.mit.edu	37	chr9	140712546	140712546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatttcagactcagaagccGacgttcgagaggaagattct	12	10	11	8	3	3	5	2	1	1	4	4	8	3	6	1	1	1	1	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140712546G>A	ENST00000460843.1	+	25	3523	c.3496G>A	c.(3496-3498)Gac>Aac	p.D1166N		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1166	Interaction with histone H3.|SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CTCAGAAGCCGACGTTCGAGA	0.527													A	140712546	G	A	140712546	3	1	364	1	0	0	0	0	1	0	0	0	5022	1058	37	1	3643	1	EHMT1	9	140712546	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27151	140712546	500885	7665	31167											
CACNA1B	774	broad.mit.edu	37	chr9	140811789	140811789	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtactggccaggacccaActttggcatcaccaactttg	10	9	10	12	0	1	0	1	0	0	0	1	2	1	2	3	4	3	2	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140811789A>C	ENST00000371372.1	+	6	1017	c.872A>C	c.(871-873)aAc>aCc	p.N291T	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.N291T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.N291T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.N291T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	291					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CCAGGACCCAACTTTGGCATC	0.582													C	140811789	A	C	140811789	3	2	364	1	0	0	0	0	1	0	0	0	2565	43	2	5	894	5	CACNA1B	9	140811789	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	99243	140811789	401642	7666	31168											
CACNA1B	774	broad.mit.edu	37	chr9	140865852	140865852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatcccccttcgcccgcGccagcctcaagagcgggaag	8	4	12	17	4	1	1	1	0	0	1	3	3	2	3	5	2	2	0	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140865852G>A	ENST00000371372.1	+	11	1496	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CACNA1B_ENST00000277549.5_5'UTR|CACNA1B_ENST00000371355.4_Missense_Mutation_p.A452T|CACNA1B_ENST00000371363.1_Missense_Mutation_p.A451T|CACNA1B_ENST00000371357.1_Missense_Mutation_p.A452T|CACNA1B_ENST00000277551.2_Missense_Mutation_p.A451T	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	451					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTTCGCCCGCGCCAGCCTCAA	0.602													A	140865852	G	A	140865852	3	1	364	1	0	0	0	0	1	0	0	0	2565	1087	38	1	1393	1	CACNA1B	9	140865852	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54063	140865852	347579	7667	31169											
CACNA1B	774	broad.mit.edu	37	chr9	140953109	140953109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagtataagacgtggaCatttgtggtctccccgccct	7	12	10	12	2	1	1	0	0	1	1	3	2	2	2	4	2	0	2	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:140953109C>T	ENST00000277549.5	+	30	4554	c.1985C>T	c.(1984-1986)aCa>aTa	p.T662I	CACNA1B_ENST00000371355.4_Missense_Mutation_p.T1467I|CACNA1B_ENST00000371372.1_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371363.1_Missense_Mutation_p.T1466I|CACNA1B_ENST00000371357.1_Missense_Mutation_p.T1467I|CACNA1B_ENST00000277551.2_Missense_Mutation_p.T1466I			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1466					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	AAGACGTGGACATTTGTGGTC	0.552													T	140953109	C	T	140953109	3	4	364	1	0	0	0	0	1	0	0	0	2565	478	17	2	4511	2	CACNA1B	9	140953109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87257	140953109	260322	7668	31170											
CACNA1B	774	broad.mit.edu	37	chr9	141010080	141010080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgctccgaggagcccGggttttccttcgacagaaga	7	9	14	11	3	0	2	0	0	0	2	3	5	2	3	3	3	2	3	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr9:141010080G>A	ENST00000277549.5	+	42	5877	c.3308G>A	c.(3307-3309)cGg>cAg	p.R1103Q	CACNA1B_ENST00000371355.4_Missense_Mutation_p.R1910Q|CACNA1B_ENST00000371372.1_Missense_Mutation_p.R1909Q|CACNA1B_ENST00000371363.1_Missense_Mutation_p.R1907Q|CACNA1B_ENST00000371357.1_Missense_Mutation_p.R1908Q|CACNA1B_ENST00000277551.2_Missense_Mutation_p.R1909Q			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1909					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CGAGGAGCCCGGGTTTTCCTT	0.597													A	141010080	G	A	141010080	3	1	364	1	0	0	0	0	1	0	0	0	2565	1116	39	1	5888	1	CACNA1B	9	141010080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56971	141010080	203351	7669	31171											
DIP2C	22982	broad.mit.edu	37	chr10	323451	323451	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagggaaccaggtccaaGgcttcttgttccgacccatc	10	8	9	14	1	1	0	0	0	1	0	4	2	3	1	5	3	1	2	5	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:323451G>T	ENST00000280886.6	-	37	4572	c.4485C>A	c.(4483-4485)gcC>gcA	p.A1495A		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1495						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CCAGGTCCAAGGCTTCTTGTT	0.507													T	323451	G	T	323451	2	4	364	1	0	0	0	0	0	0	0	1	4568	987	35	4		4	DIP2C	10	323451	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08		323451	135211296	7670	31172											
DIP2C	22982	broad.mit.edu	37	chr10	373112	373112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgggacaagtccagccctCgcgcctggagatgatgacag	9	6	13	13	3	0	3	0	2	0	1	3	5	1	4	3	2	1	0	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:373112C>T	ENST00000280886.6	-	31	3845	c.3758G>A	c.(3757-3759)cGa>cAa	p.R1253Q		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	1253						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GTCCAGCCCTCGCGCCTGGAG	0.577													T	373112	C	T	373112	3	4	364	1	0	0	0	0	1	0	0	0	4568	884	31	1	940	1	DIP2C	10	373112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49661	373112	135161635	7671	31173											
DIP2C	22982	broad.mit.edu	37	chr10	429983	429983	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaggggttcgcgccgtcCgccactatcagcattcgcag	7	9	11	14	5	1	0	1	0	0	0	4	0	2	0	3	2	2	3	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:429983C>T	ENST00000280886.6	-	16	1947	c.1860G>A	c.(1858-1860)gcG>gcA	p.A620A	DIP2C_ENST00000381496.3_Silent_p.A513A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	620						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TCGCGCCGTCCGCCACTATCA	0.522													T	429983	C	T	429983	2	4	364	1	0	0	0	0	0	0	0	1	4568	639	23	1		1	DIP2C	10	429983	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56871	429983	135104764	7672	31174											
DIP2C	22982	broad.mit.edu	37	chr10	465045	465045	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgttgccgtacttgggCgctgtccgggaccccgtgga	3	9	16	13	6	0	0	0	0	0	0	2	2	1	2	4	4	2	3	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:465045C>T	ENST00000280886.6	-	6	786	c.699G>A	c.(697-699)gcG>gcA	p.A233A	DIP2C_ENST00000381496.3_Silent_p.A126A	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	233						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CGTACTTGGGCGCTGTCCGGG	0.557													T	465045	C	T	465045	2	4	364	1	0	0	0	0	0	0	0	1	4568	755	27	1		1	DIP2C	10	465045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35062	465045	135069702	7673	31175											
DIP2C	22982	broad.mit.edu	37	chr10	486833	486833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggggtgtaggcgtccatCgaggtctgcacgaccaggga	8	6	18	9	3	1	0	0	0	1	0	3	4	2	2	2	6	1	2	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486833C>T	ENST00000280886.6	-	4	459	c.372G>A	c.(370-372)tcG>tcA	p.S124S	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Silent_p.S17S	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	124						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		AGGCGTCCATCGAGGTCTGCA	0.612													T	486833	C	T	486833	2	4	364	1	0	0	0	0	0	0	0	1	4568	871	31	1		1	DIP2C	10	486833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21788	486833	135047914	7674	31176											
DIP2C	22982	broad.mit.edu	37	chr10	486879	486879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggaaggcataggcactGccatcttccgctctttgtgt	6	14	11	10	1	2	0	0	0	2	0	3	1	3	1	2	3	1	4	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:486879G>A	ENST00000280886.6	-	4	413	c.326C>T	c.(325-327)gCa>gTa	p.A109V	RP11-490E15.2_ENST00000425723.2_RNA|DIP2C_ENST00000381496.3_Missense_Mutation_p.A2V	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	109						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		CATAGGCACTGCCATCTTCCG	0.612													A	486879	G	A	486879	3	1	364	1	0	0	0	0	1	0	0	0	4568	1319	46	2	4480	2	DIP2C	10	486879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46	486879	135047868	7675	31177											
LARP4B	23185	broad.mit.edu	37	chr10	859132	859132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttctctgacaaatctctgCgtagctgggctttcgcaatt	7	14	9	11	3	2	1	0	1	2	0	5	1	2	1	0	1	2	5	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:859132C>T	ENST00000316157.3	-	17	1991	c.1951G>A	c.(1951-1953)Gca>Aca	p.A651T		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	651							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CAAATCTCTGCGTAGCTGGGC	0.453													T	859132	C	T	859132	3	4	364	1	0	0	0	0	1	0	0	0	8690	768	27	1	269	1	LARP4B	10	859132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	372253	859132	134675615	7676	31178											
LARP4B	23185	broad.mit.edu	37	chr10	875496	875496	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaatccattctttggcaaAaatgtgtttatagctattgc	12	16	6	7	0	1	0	0	0	1	0	2	0	2	0	1	1	2	3	1	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:875496A>G	ENST00000316157.3	-	10	994	c.954T>C	c.(952-954)ttT>ttC	p.F318F		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	318							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TCTTTGGCAAAAATGTGTTTA	0.428													G	875496	A	G	875496	2	3	364	1	0	0	0	0	0	0	0	1	8690	11	1	3		3	LARP4B	10	875496	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16364	875496	134659251	7677	31179											
LARP4B	23185	broad.mit.edu	37	chr10	910103	910103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtggccagccacctcctcCcatgcagcactcacaccgtc	7	7	8	19	1	1	0	1	0	0	0	4	0	3	0	6	2	3	2	6	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:910103C>A	ENST00000316157.3	-	3	289	c.249G>T	c.(247-249)tgG>tgT	p.W83C		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	83							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						CCACCTCCTCCCATGCAGCAC	0.592													A	910103	C	A	910103	3	1	364	1	0	0	0	0	1	0	0	0	8690	624	22	4	2027	4	LARP4B	10	910103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34607	910103	134624644	7678	31180											
KLF6	1316	broad.mit.edu	37	chr10	3821778	3821778	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtggtcagacctggaaaAacacctgcaagggcaaatca	15	5	11	10	0	2	1	2	0	0	1	2	2	2	2	2	4	2	2	2	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:3821778A>C	ENST00000497571.1	-	4	1065	c.805T>G	c.(805-807)Ttt>Gtt	p.F269V	KLF6_ENST00000173785.4_5'UTR|KLF6_ENST00000542957.1_Silent_p.V227V	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	269					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACCTGGAAAAACACCTGCAA	0.582													C	3821778	A	C	3821778	3	2	364	1	0	0	0	0	1	0	0	0	8408	14	1	5	50	5	KLF6	10	3821778	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2911675	3821778	131712969	7679	31181											
AKR1E2	83592	broad.mit.edu	37	chr10	4877927	4877927	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttctgcctctcacatcctCgagtgcaggacttgcctctg	5	12	8	16	1	3	0	1	0	3	0	6	2	4	1	4	1	3	1	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4877927C>T	ENST00000298375.7	+	4	456	c.385C>T	c.(385-387)Cga>Tga	p.R129*	AKR1E2_ENST00000334019.4_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000532248.1_Nonsense_Mutation_p.R129*|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Nonsense_Mutation_p.R129*	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	129						cytoplasm	1,5-anhydro-D-fructose reductase activity	p.R129*(1)		NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						CTCACATCCTCGAGTGCAGGA	0.527													T	4877927	C	T	4877927	4	4	364	1	0	0	0	0	0	1	0	0	474	876	31	1	399	1	AKR1E2	10	4877927	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1056149	4877927	130656820	7680	31182											
AKR1E2	83592	broad.mit.edu	37	chr10	4884652	4884652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaggaatgtgatagtgAtccccggatctatcacccca	11	9	9	12	1	2	3	1	2	1	1	4	5	4	5	5	2	0	0	5	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:4884652A>G	ENST00000298375.7	+	8	864	c.793A>G	c.(793-795)Atc>Gtc	p.I265V	AKR1E2_ENST00000334019.4_Missense_Mutation_p.I208V|AKR1E2_ENST00000532248.1_Missense_Mutation_p.I208V|AKR1E2_ENST00000525281.1_3'UTR|AKR1E2_ENST00000345253.5_Missense_Mutation_p.I167V	NM_001040177.2	NP_001035267.1	Q96JD6	AKCL2_HUMAN	aldo-keto reductase family 1, member E2	265						cytoplasm	1,5-anhydro-D-fructose reductase activity			NS(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(9)	15						TGTGATAGTGATCCCCGGATC	0.393													G	4884652	A	G	4884652	3	3	364	1	0	0	0	0	1	0	0	0	474	333	12	3	823	3	AKR1E2	10	4884652	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6725	4884652	130650095	7681	31183											
AKR1C2	1646	broad.mit.edu	37	chr10	5043827	5043827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatcaatatggtggaacccgGcttctattgccaatttgacg	11	12	9	9	2	2	1	1	1	1	0	2	2	2	2	2	3	2	1	2	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5043827G>A	ENST00000380753.4	-	2	318	c.131C>T	c.(130-132)gCc>gTc	p.A44V	AKR1C2_ENST00000455190.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000407674.1_Missense_Mutation_p.A44V|AKR1C2_ENST00000421196.3_Missense_Mutation_p.A44V	NM_205845.2	NP_995317.1	P52895	AK1C2_HUMAN	aldo-keto reductase family 1, member C2	44					digestion|prostaglandin metabolic process|steroid metabolic process	cytoplasm	androsterone dehydrogenase (A-specific) activity|bile acid binding|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(1)|large_intestine(5)|lung(3)|skin(1)	10					NADH(DB00157)|Ursodeoxycholic acid(DB01586)	GTGGAACCCGGCTTCTATTGC	0.448													A	5043827	G	A	5043827	3	1	364	1	0	0	0	0	1	0	0	0	470	1203	42	2	927	2	AKR1C2	10	5043827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159175	5043827	130490920	7682	31184											
NET1	10276	broad.mit.edu	37	chr10	5493871	5493871	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctcctgtaagaaatggaGctgtcagacgttttggtcaa	10	13	10	8	1	3	2	2	0	1	2	5	3	4	3	1	2	1	3	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5493871G>A	ENST00000542715.1	+	0	225				NET1_ENST00000355029.4_Missense_Mutation_p.A112T|NET1_ENST00000380359.3_Missense_Mutation_p.A58T			Q7Z628	ARHG8_HUMAN	neuroepithelial cell transforming 1						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell growth|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|nucleus	Rho guanyl-nucleotide exchange factor activity			breast(4)|kidney(2)|large_intestine(9)|lung(5)|prostate(2)|skin(1)	23						AAGAAATGGAGCTGTCAGACG	0.413													A	5493871	G	A	5493871	1	1	364	1	0	0	0	0	0	0	0	0	10414	971	34	2		2	NET1	10	5493871	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450044	5493871	130040876	7683	31185											
CALML5	51806	broad.mit.edu	37	chr10	5541121	5541121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacggtgatgtggccgtcgCcatcctggtcgaaggcgcgg	5	7	16	13	6	0	1	0	1	0	0	3	2	1	1	4	5	0	0	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5541121C>T	ENST00000380332.3	-	1	412	c.281G>A	c.(280-282)gGc>gAc	p.G94D		NM_017422.4	NP_059118.2	Q9NZT1	CALL5_HUMAN	calmodulin-like 5	94	EF-hand 3.				epidermis development|signal transduction		calcium ion binding|protein binding			biliary_tract(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|stomach(1)	8						GTGGCCGTCGCCATCCTGGTC	0.706													T	5541121	C	T	5541121	3	4	364	1	0	0	0	0	1	0	0	0	2615	739	26	2	163	2	CALML5	10	5541121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47250	5541121	129993626	7684	31186											
CALML3	810	broad.mit.edu	37	chr10	5567216	5567216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggacatgatgagtgagatCgaccgggacggcaacggcac	11	4	16	10	5	0	3	0	3	0	1	1	7	0	5	1	4	1	2	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5567216C>T	ENST00000315238.1	+	1	293	c.168C>T	c.(166-168)atC>atT	p.I56I	CALML3-AS1_ENST00000542093.1_RNA|CALML3-AS1_ENST00000545372.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	56	EF-hand 2.						calcium ion binding			endometrium(3)|lung(2)	5						TGAGTGAGATCGACCGGGACG	0.657													T	5567216	C	T	5567216	2	4	364	1	0	0	0	0	0	0	0	1	2613	874	31	1		1	CALML3	10	5567216	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26095	5567216	129967531	7685	31187											
ASB13	79754	broad.mit.edu	37	chr10	5693263	5693263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaagagcttcacacactCgatgctgcccgaggcgcagg	10	5	12	14	3	1	1	1	0	0	1	2	3	1	1	1	2	4	4	1	2	1	1	rs149846489		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5693263C>T	ENST00000357700.6	-	3	321	c.295G>A	c.(295-297)Gag>Aag	p.E99K	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	99					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		TTCACACACTCGATGCTGCCC	0.622													T	5693263	C	T	5693263	3	4	364	1	0	0	0	0	1	0	0	0	1022	893	31	1	557	1	ASB13	10	5693263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126047	5693263	129841484	7686	31188											
ANKRD16	54522	broad.mit.edu	37	chr10	5927718	5927718	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttgactgcctccaaatgGccatgcattgctgggaggag	9	9	12	11	0	0	1	0	1	0	0	1	3	1	3	4	3	3	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:5927718G>A	ENST00000380094.5	-	3	1089	c.546C>T	c.(544-546)ggC>ggT	p.G182G	ANKRD16_ENST00000380092.4_Silent_p.G182G|ANKRD16_ENST00000191063.8_Silent_p.G182G	NM_019046.2	NP_061919.1	Q6P6B7	ANR16_HUMAN	ankyrin repeat domain 16	182										breast(1)|endometrium(1)|large_intestine(5)|lung(3)|stomach(2)	12						CCTCCAAATGGCCATGCATTG	0.443													A	5927718	G	A	5927718	2	1	364	1	0	0	0	0	0	0	0	1	645	1190	42	2		2	ANKRD16	10	5927718	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234455	5927718	129607029	7687	31189											
IL15RA	3601	broad.mit.edu	37	chr10	6001721	6001721	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagggacacacttaccagtGgtgtcgctgtggccctgtgg	8	9	14	10	1	0	0	0	0	0	0	1	1	0	1	2	4	1	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6001721G>T	ENST00000525219.2	-	5	798	c.504C>A	c.(502-504)acC>acA	p.T168T	IL15RA_ENST00000530685.1_Silent_p.T171T|IL15RA_ENST00000379971.1_Silent_p.T106T|IL15RA_ENST00000397255.3_Silent_p.T204T|IL15RA_ENST00000534292.1_5'UTR|IL15RA_ENST00000379977.3_Silent_p.T204T|IL15RA_ENST00000397248.2_Silent_p.T168T|IL15RA_ENST00000397250.2_Silent_p.T106T|IL15RA_ENST00000528354.1_Silent_p.T171T|IL15RA_ENST00000397251.3_Silent_p.T139T	NM_001243539.1	NP_001230468.1	Q13261	I15RA_HUMAN	interleukin 15 receptor, alpha	204					cell proliferation	cytoplasmic vesicle membrane|endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane|nuclear membrane	cytokine receptor activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5						ACTTACCAGTGGTGTCGCTGT	0.582													T	6001721	G	T	6001721	2	4	364	1	0	0	0	0	0	0	0	1	7690	1335	47	4		4	IL15RA	10	6001721	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74003	6001721	129533026	7688	31190											
RBM17	84991	broad.mit.edu	37	chr10	6152028	6152028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccattcctcccccagtgtaCgaggaacaagacagaccgag	12	5	10	14	2	0	2	0	0	0	2	2	5	2	3	5	1	2	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6152028C>T	ENST00000446108.1	+	7	1286	c.642C>T	c.(640-642)taC>taT	p.Y214Y	RBM17_ENST00000379888.4_Silent_p.Y214Y	NM_001145547.1	NP_001139019.1	Q96I25	SPF45_HUMAN	RNA binding motif protein 17	214				Y -> H (in Ref. 1; AAH09064).	mRNA processing|RNA splicing	spliceosomal complex	nucleotide binding|protein binding|RNA binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	19						CCCCAGTGTACGAGGAACAAG	0.453													T	6152028	C	T	6152028	2	4	364	1	0	0	0	0	0	0	0	1	13207	547	19	1		1	RBM17	10	6152028	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150307	6152028	129382719	7689	31191											
PFKFB3	5209	broad.mit.edu	37	chr10	6255642	6255642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcatggtgggcctccccGcccggggcaagacctacatc	6	7	12	16	3	1	1	1	0	0	1	4	1	2	1	5	4	1	1	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6255642G>A	ENST00000379775.4	+	2	463	c.133G>A	c.(133-135)Gcc>Acc	p.A45T	PFKFB3_ENST00000317350.4_Missense_Mutation_p.A45T|PFKFB3_ENST00000379785.1_Missense_Mutation_p.A45T|PFKFB3_ENST00000360521.2_Missense_Mutation_p.A45T|PFKFB3_ENST00000379789.4_Missense_Mutation_p.A25T|PFKFB3_ENST00000540253.1_Missense_Mutation_p.A59T|PFKFB3_ENST00000536985.1_Missense_Mutation_p.A25T|PFKFB3_ENST00000379782.3_Missense_Mutation_p.A45T	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	45	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GGGCCTCCCCGCCCGGGGCAA	0.597													A	6255642	G	A	6255642	3	1	364	1	0	0	0	0	1	0	0	0	11839	1087	38	1	159	1	PFKFB3	10	6255642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103614	6255642	129279105	7690	31192											
PFKFB3	5209	broad.mit.edu	37	chr10	6259132	6259132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcggtgtgcgacgaccctaCagttgtggcctccaatatca	8	10	11	12	3	1	0	1	0	0	0	3	2	2	0	3	2	2	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6259132C>T	ENST00000379775.4	+	6	806	c.476C>T	c.(475-477)aCa>aTa	p.T159I	PFKFB3_ENST00000317350.4_Missense_Mutation_p.T159I|PFKFB3_ENST00000379785.1_Missense_Mutation_p.T159I|PFKFB3_ENST00000360521.2_Missense_Mutation_p.T159I|PFKFB3_ENST00000379789.4_Missense_Mutation_p.T139I|PFKFB3_ENST00000540253.1_Missense_Mutation_p.T173I|PFKFB3_ENST00000536985.1_Missense_Mutation_p.T139I|PFKFB3_ENST00000379782.3_Missense_Mutation_p.T159I	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	159	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						GACGACCCTACAGTTGTGGCC	0.557													T	6259132	C	T	6259132	3	4	364	1	0	0	0	0	1	0	0	0	11839	478	17	2	518	2	PFKFB3	10	6259132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3490	6259132	129275615	7691	31193											
PRKCQ	5588	broad.mit.edu	37	chr10	6520955	6520955	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcggagcagaagccataccTtggtctggaatgtacaaaac	13	8	11	9	1	1	1	0	0	1	1	2	3	1	3	2	3	5	2	2	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6520955T>G	ENST00000263125.5	-	12	1451	c.1352A>C	c.(1351-1353)aAg>aCg	p.K451T	PRKCQ_ENST00000539722.1_Splice_Site_p.K326T|PRKCQ_ENST00000397176.2_Splice_Site_p.K451T	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	451	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						AAGCCATACCTTGGTCTGGAA	0.507													G	6520955	T	G	6520955	5	3	364	1	0	0	0	0	0	0	1	0	12601	1623	56	5	796	5	PRKCQ	10	6520955	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	261823	6520955	129013792	7692	31194											
PRKCQ	5588	broad.mit.edu	37	chr10	6549437	6549437	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcattcattagcattcGgccttgaggtttcagctcta	7	16	8	10	1	4	1	2	1	2	0	5	1	4	1	1	2	3	4	1	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6549437G>A	ENST00000263125.5	-	4	439	c.340C>T	c.(340-342)Cga>Tga	p.R114*	PRKCQ_ENST00000539722.1_Intron|PRKCQ_ENST00000397176.2_Nonsense_Mutation_p.R114*	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	114	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						ATTAGCATTCGGCCTTGAGGT	0.468													A	6549437	G	A	6549437	4	1	364	1	0	0	0	0	0	1	0	0	12601	1124	39	1	1840	1	PRKCQ	10	6549437	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28482	6549437	128985310	7693	31195											
PRKCQ	5588	broad.mit.edu	37	chr10	6557047	6557047	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctcgccctgacaagactgGcaggacccgcagtcaaagtt	10	6	11	14	2	1	2	1	1	0	1	2	3	1	3	3	2	0	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:6557047G>A	ENST00000263125.5	-	2	150	c.51C>T	c.(49-51)tgC>tgT	p.C17C	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.C17C	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	17	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						GACAAGACTGGCAGGACCCGC	0.512													A	6557047	G	A	6557047	2	1	364	1	0	0	0	0	0	0	0	1	12601	1195	42	2		2	PRKCQ	10	6557047	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7610	6557047	128977700	7694	31196											
SFMBT2	57713	broad.mit.edu	37	chr10	7212972	7212972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtgaccgtccactccaacGggttgctctccagaaccagt	8	8	10	15	3	1	2	0	1	1	1	4	2	3	2	5	2	3	2	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7212972G>A	ENST00000361972.4	-	20	2552	c.2462C>T	c.(2461-2463)cCg>cTg	p.P821L	SFMBT2_ENST00000397167.1_Missense_Mutation_p.P821L	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	821					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						CCACTCCAACGGGTTGCTCTC	0.592													A	7212972	G	A	7212972	3	1	364	1	0	0	0	0	1	0	0	0	14251	1116	39	1	230	1	SFMBT2	10	7212972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	655925	7212972	128321775	7695	31197											
SFMBT2	57713	broad.mit.edu	37	chr10	7239607	7239607	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctgagaaacacctgtggTtgatgaagagctgaggacag	12	7	15	7	0	0	5	0	4	0	2	0	7	0	6	2	3	2	2	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7239607T>C	ENST00000361972.4	-	15	1691	c.1601A>G	c.(1600-1602)aAc>aGc	p.N534S	SFMBT2_ENST00000397167.1_Missense_Mutation_p.N534S	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	534					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						ACACCTGTGGTTGATGAAGAG	0.542													C	7239607	T	C	7239607	3	2	364	1	0	0	0	0	1	0	0	0	14251	1725	60	3	1111	3	SFMBT2	10	7239607	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26635	7239607	128295140	7696	31198											
SFMBT2	57713	broad.mit.edu	37	chr10	7409762	7409762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccgcacgtggtaatgatCgtggccacccagtacgtgtc	7	9	12	13	4	0	1	0	1	0	0	2	1	0	1	3	2	2	3	3	2	2	2	rs34359069		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7409762C>T	ENST00000361972.4	-	4	375	c.285G>A	c.(283-285)acG>acA	p.T95T	SFMBT2_ENST00000379711.2_Silent_p.T95T|SFMBT2_ENST00000397167.1_Silent_p.T95T|SFMBT2_ENST00000379713.3_Silent_p.T95T|SFMBT2_ENST00000397160.3_Silent_p.T95T	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	95					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						TGGTAATGATCGTGGCCACCC	0.542													T	7409762	C	T	7409762	2	4	364	1	0	0	0	0	0	0	0	1	14251	871	31	1		1	SFMBT2	10	7409762	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170155	7409762	128124985	7697	31199											
ITIH5	80760	broad.mit.edu	37	chr10	7621856	7621856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgcagacttggcctcggGcggcctctcgggtgttgttg	4	11	16	10	3	1	2	0	0	1	2	3	2	1	2	2	4	1	3	2	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7621856G>A	ENST00000256861.6	-	9	1358	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	ITIH5_ENST00000446830.2_Missense_Mutation_p.A209V|ITIH5_ENST00000397145.2_Missense_Mutation_p.A427V|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Missense_Mutation_p.A427V|ITIH5_ENST00000298441.6_Missense_Mutation_p.A213V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	427	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTGGCCTCGGGCGGCCTCTCG	0.622													A	7621856	G	A	7621856	3	1	364	1	0	0	0	0	1	0	0	0	7965	1203	42	2	1695	2	ITIH5	10	7621856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212094	7621856	127912891	7698	31200											
KIN	22944	broad.mit.edu	37	chr10	7801869	7801869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacagtttcaatgacgataGtagctgaaaaagtcttctca	14	13	7	7	1	3	2	2	2	2	0	4	3	3	2	0	0	2	3	0	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7801869G>A	ENST00000379562.4	-	12	1150	c.1103C>T	c.(1102-1104)aCt>aTt	p.T368I	KIN_ENST00000543003.1_Missense_Mutation_p.T262I|KIN_ENST00000535925.1_Missense_Mutation_p.T368I|KIN_ENST00000463666.1_5'UTR	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)		C-terminal subdomain B.				DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AATGACGATAGTAGCTGAAAA	0.303													A	7801869	G	A	7801869	3	1	364	1	0	0	0	0	1	0	0	0	8373	1029	36	2	86	2	KIN	10	7801869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180013	7801869	127732878	7699	31201											
KIN	22944	broad.mit.edu	37	chr10	7817764	7817765	+	Splice_Site	INS	-	-	A																															cgtaaaagtagggacctcctINSaaaaaaaagaaagttttaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7817764_7817765insA	ENST00000379562.4	-	6	606		c.e6-2		KIN_ENST00000543003.1_Splice_Site|KIN_ENST00000535925.1_Splice_Site	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						AGGGACCTCCTAAAAAAAAGAA	0.317													A	7817765	-	A	7817764	8	5	364	1	0	1	1	0	0	0	1	0	8373	1536	53	0	656	0	KIN	10	7817764	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	15895	7817764	127716983	7700	31202											
KIN	22944	broad.mit.edu	37	chr10	7820976	7820976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgtctcgtccactttgCacaagccttaaaaaaacagc	12	11	7	11	1	1	0	0	0	1	0	3	0	2	0	2	1	4	1	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7820976C>T	ENST00000379562.4	-	5	430	c.383G>A	c.(382-384)tGc>tAc	p.C128Y	KIN_ENST00000543003.1_Missense_Mutation_p.C22Y|KIN_ENST00000535925.1_Missense_Mutation_p.C128Y	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTCCACTTTGCACAAGCCTTA	0.393													T	7820976	C	T	7820976	3	4	364	1	0	0	0	0	1	0	0	0	8373	710	25	2	834	2	KIN	10	7820976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3212	7820976	127713771	7701	31203											
KIN	22944	broad.mit.edu	37	chr10	7822111	7822111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggctgatgtattcgttgTagacaatgttgttgtggacc	7	15	14	5	1	0	2	0	1	0	1	1	3	0	3	1	3	0	6	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:7822111T>C	ENST00000379562.4	-	4	331	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	KIN_ENST00000543003.1_5'UTR|KIN_ENST00000535925.1_Missense_Mutation_p.Y95C	NM_012311.3	NP_036443.1	O60870	KIN17_HUMAN	KIN, antigenic determinant of recA protein homolog (mouse)						DNA recombination|DNA repair|DNA replication|interspecies interaction between organisms|mRNA processing	cytoplasm|nuclear matrix	double-stranded DNA binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(2)	19						GTATTCGTTGTAGACAATGTT	0.408													C	7822111	T	C	7822111	3	2	364	1	0	0	0	0	1	0	0	0	8373	1638	57	3	937	3	KIN	10	7822111	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1135	7822111	127712636	7702	31204											
TAF3	83860	broad.mit.edu	37	chr10	8005992	8005992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaattattaatgatgaGaatttcctgggcaagagacc	16	10	10	5	0	0	4	0	2	0	3	1	7	1	4	2	1	0	1	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8005992G>T	ENST00000344293.5	+	3	725	c.519G>T	c.(517-519)gaG>gaT	p.E173D		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	173					maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						TTAATGATGAGAATTTCCTGG	0.493													T	8005992	G	T	8005992	3	4	364	1	0	0	0	0	1	0	0	0	15622	933	33	4	529	4	TAF3	10	8005992	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183881	8005992	127528755	7703	31205											
GATA3	2625	broad.mit.edu	37	chr10	8100600	8100600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaccaggtgcccctgcccGacagcatgaagctggagtcg	9	6	13	13	2	0	1	0	1	0	0	1	3	0	2	4	2	5	3	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8100600G>A	ENST00000379328.3	+	3	1142	c.574G>A	c.(574-576)Gac>Aac	p.D192N	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Missense_Mutation_p.D192N	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	192					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						GCCCCTGCCCGACAGCATGAA	0.682			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						A	8100600	G	A	8100600	3	1	364	1	0	0	0	0	1	0	0	0	6309	1058	37	1	580	1	GATA3	10	8100600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94608	8100600	127434147	7704	31206											
GATA3	2625	broad.mit.edu	37	chr10	8115914	8115914	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgctgaccacgcccacGccgatgcacccgccatccag	9	4	8	20	4	0	1	0	1	0	0	1	2	1	1	6	0	2	2	6	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:8115914G>A	ENST00000379328.3	+	6	1831	c.1263G>A	c.(1261-1263)acG>acA	p.T421T	GATA3_ENST00000461472.1_3'UTR|GATA3_ENST00000346208.3_Silent_p.T420T	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	420					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCACGCCCACGCCGATGCACC	0.642			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						A	8115914	G	A	8115914	2	1	364	1	0	0	0	0	0	0	0	1	6309	1074	38	1		1	GATA3	10	8115914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15314	8115914	127418833	7705	31207											
CELF2	10659	broad.mit.edu	37	chr10	11363273	11363273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcaggaattcaacagtaCgcagccgccgcgctgcccac	10	6	9	16	4	2	0	2	0	0	0	2	1	2	1	3	1	5	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11363273C>T	ENST00000379261.4	+	11	1271	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	CELF2_ENST00000542579.1_Silent_p.Y406Y|CELF2_ENST00000427450.1_Silent_p.Y375Y|CELF2_ENST00000354440.2_Silent_p.Y375Y|CELF2_ENST00000416382.2_Silent_p.Y393Y|CELF2_ENST00000537122.1_Silent_p.Y288Y|CELF2_ENST00000609692.1_Silent_p.Y373Y|CELF2_ENST00000608830.1_Silent_p.Y373Y|CELF2_ENST00000315874.4_Silent_p.Y375Y|CELF2_ENST00000417956.2_Silent_p.Y373Y|CELF2_ENST00000399850.3_Silent_p.Y375Y|CELF2_ENST00000450189.1_Silent_p.Y406Y|CELF2_ENST00000354897.3_Silent_p.Y387Y	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	393	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						TTCAACAGTACGCAGCCGCCG	0.652													T	11363273	C	T	11363273	2	4	364	1	0	0	0	0	0	0	0	1	3246	547	19	1		1	CELF2	10	11363273	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3247359	11363273	124171474	7706	31208											
USP6NL	9712	broad.mit.edu	37	chr10	11505270	11505270	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgggcctggcacgtTgtcgtactgcgatgcagtgg	5	9	15	12	4	0	0	0	0	0	0	2	1	1	0	2	3	4	5	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11505270T>C	ENST00000609104.1	-	15	2051	c.1657A>G	c.(1657-1659)Aac>Gac	p.N553D	USP6NL_ENST00000379237.2_Missense_Mutation_p.N576D|USP6NL_ENST00000277575.5_Missense_Mutation_p.N570D	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like							intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCTGGCACGTTGTCGTACTGC	0.667													C	11505270	T	C	11505270	3	2	364	1	0	0	0	0	1	0	0	0	17189	1812	63	3	833	3	USP6NL	10	11505270	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141997	11505270	124029477	7707	31209											
USP6NL	9712	broad.mit.edu	37	chr10	11535183	11535183	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggttgacatccaggtctatTtgtctgatgtcaggtgaaca	9	13	11	8	1	3	3	1	3	2	0	4	3	4	3	1	3	1	1	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:11535183T>C	ENST00000609104.1	-	8	823	c.429A>G	c.(427-429)caA>caG	p.Q143Q	USP6NL_ENST00000379237.2_Silent_p.Q166Q|USP6NL_ENST00000277575.5_Silent_p.Q160Q	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like		Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CCAGGTCTATTTGTCTGATGT	0.368													C	11535183	T	C	11535183	2	2	364	1	0	0	0	0	0	0	0	1	17189	1838	64	3		3	USP6NL	10	11535183	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29913	11535183	123999564	7708	31210											
DHTKD1	55526	broad.mit.edu	37	chr10	12160831	12160831	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggggccaagaagcatgActttgccatcatccgagtag	10	9	12	10	1	2	2	1	1	1	1	3	3	3	2	3	2	2	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12160831A>G	ENST00000263035.4	+	15	2548	c.2486A>G	c.(2485-2487)gAc>gGc	p.D829G		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	829					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			AAGAAGCATGACTTTGCCATC	0.468													G	12160831	A	G	12160831	3	3	364	1	0	0	0	0	1	0	0	0	4539	275	10	3	2544	3	DHTKD1	10	12160831	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	625648	12160831	123373916	7709	31211											
SEC61A2	55176	broad.mit.edu	37	chr10	12197318	12197318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttcaaaggatcaacaCagcccttagacttatccttt	11	15	4	11	0	2	1	2	0	0	1	3	2	3	2	2	1	2	0	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12197318C>T	ENST00000379051.1	+	7	622	c.471C>T	c.(469-471)caC>caT	p.H157H	SEC61A2_ENST00000304267.8_Intron|SEC61A2_ENST00000495368.1_Intron|SEC61A2_ENST00000379020.4_Intron|SEC61A2_ENST00000379033.3_Intron|SEC61A2_ENST00000298428.9_Intron			Q9H9S3	S61A2_HUMAN	Sec61 alpha 2 subunit (S. cerevisiae)	0						endoplasmic reticulum membrane|integral to membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Renal(717;0.228)				AGGATCAACACAGCCCTTAGA	0.299													T	12197318	C	T	12197318	2	4	364	1	0	0	0	0	0	0	0	1	14094	493	17	2		2	SEC61A2	10	12197318	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36487	12197318	123337429	7710	31212											
CAMK1D	57118	broad.mit.edu	37	chr10	12595236	12595236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcacagcggggccttttcCgaagtggttttagctgaaga	8	12	13	8	2	1	2	1	1	0	1	2	3	2	2	2	3	2	3	2	3	3	5	rs141516444		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12595236C>T	ENST00000378847.3	+	2	442	c.105C>T	c.(103-105)tcC>tcT	p.S35S	CAMK1D_ENST00000378845.1_Silent_p.S35S|CAMK1D_ENST00000487696.1_Intron	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	35	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	p.S35S(2)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GGGCCTTTTCCGAAGTGGTTT	0.468													T	12595236	C	T	12595236	2	4	364	1	0	0	0	0	0	0	0	1	2623	639	23	1		1	CAMK1D	10	12595236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	397918	12595236	122939511	7711	31213											
CAMK1D	57118	broad.mit.edu	37	chr10	12803078	12803078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggcatcgtccacagagAcctcaaggtgaggccatcgc	11	6	12	12	2	1	2	1	1	0	1	4	3	2	2	3	3	0	1	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12803078A>G	ENST00000378847.3	+	4	768	c.431A>G	c.(430-432)gAc>gGc	p.D144G	CAMK1D_ENST00000378845.1_Missense_Mutation_p.D144G	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	144	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		GTCCACAGAGACCTCAAGGTG	0.587													G	12803078	A	G	12803078	3	3	364	1	0	0	0	0	1	0	0	0	2623	275	10	3	445	3	CAMK1D	10	12803078	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	207842	12803078	122731669	7712	31214											
CAMK1D	57118	broad.mit.edu	37	chr10	12867689	12867689	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttggccagccaaaaagacTgtgcgtatgtagcaaaacca	14	8	10	9	1	0	1	0	0	0	1	0	1	0	1	3	1	4	4	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:12867689T>A	ENST00000378845.1	+	10	1125	c.1039T>A	c.(1039-1041)Tgt>Agt	p.C347S	CAMK1D_ENST00000378847.3_Splice_Site_p.C347S	NM_020397.2	NP_065130.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	347	Ser-rich.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CCAAAAAGACTGTGCGTATGT	0.552													A	12867689	T	A	12867689	3	1	364	1	0	0	0	0	1	0	0	0	2623	1594	55	5	1077	5	CAMK1D	10	12867689	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64611	12867689	122667058	7713	31215											
MCM10	55388	broad.mit.edu	37	chr10	13214455	13214455	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaattaaacagacagcaagCccagcccgtctgcaaaaatc	17	5	6	13	1	1	1	0	0	1	1	2	1	1	1	2	0	5	2	2	0	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13214455C>T	ENST00000378694.1	+	3	504	c.429C>T	c.(427-429)agC>agT	p.S143S	MCM10_ENST00000378714.3_Silent_p.S143S|MCM10_ENST00000484800.2_Silent_p.S143S			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	143					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						AGACAGCAAGCCCAGCCCGTC	0.373													T	13214455	C	T	13214455	2	4	364	1	0	0	0	0	0	0	0	1	9460	738	26	2		2	MCM10	10	13214455	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346766	13214455	122320292	7714	31216											
MCM10	55388	broad.mit.edu	37	chr10	13228229	13228229	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcttgacctgggaacCtgtaaagccaagaagaagaa	16	6	11	8	0	1	4	0	1	1	3	1	6	1	5	3	1	3	2	3	1	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13228229C>A	ENST00000378694.1	+	8	1239	c.1164C>A	c.(1162-1164)acC>acA	p.T388T	MCM10_ENST00000378714.3_Silent_p.T388T|MCM10_ENST00000484800.2_Silent_p.T389T			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	389					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACCTGGGAACCTGTAAAGCCA	0.448													A	13228229	C	A	13228229	2	1	364	1	0	0	0	0	0	0	0	1	9460	668	24	4		4	MCM10	10	13228229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13774	13228229	122306518	7715	31217											
MCM10	55388	broad.mit.edu	37	chr10	13230881	13230881	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgctctgccttttgcagCgtgactgtgagtactgtcag	6	13	11	11	1	2	2	1	2	1	0	2	2	2	2	1	0	5	3	1	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13230881C>T	ENST00000378694.1	+	9	1291	c.1216C>T	c.(1216-1218)Cgt>Tgt	p.R406C	MCM10_ENST00000378714.3_Splice_Site_p.R406C|MCM10_ENST00000484800.2_Splice_Site_p.R407C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	407	Zinc finger-like.				cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CCTTTTGCAGCGTGACTGTGA	0.557													T	13230881	C	T	13230881	5	4	364	1	0	0	0	0	0	0	1	0	9460	782	27	1	1253	1	MCM10	10	13230881	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2652	13230881	122303866	7716	31218											
MCM10	55388	broad.mit.edu	37	chr10	13231056	13231056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttactacggaggggtttCttctgcctcgtatgcagctt	5	16	10	10	2	2	0	0	0	2	0	3	1	2	1	1	3	5	4	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13231056C>A	ENST00000378694.1	+	9	1466	c.1391C>A	c.(1390-1392)tCt>tAt	p.S464Y	MCM10_ENST00000378714.3_Missense_Mutation_p.S464Y|MCM10_ENST00000484800.2_Missense_Mutation_p.S465Y			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	465					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						GGAGGGGTTTCTTCTGCCTCG	0.493													A	13231056	C	A	13231056	3	1	364	1	0	0	0	0	1	0	0	0	9460	913	32	4	1428	4	MCM10	10	13231056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175	13231056	122303691	7717	31219											
MCM10	55388	broad.mit.edu	37	chr10	13246221	13246221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgttgctctgtgcagtgCgcctatacccacttcaagct	6	15	8	12	1	2	0	1	0	1	0	2	0	2	0	2	0	5	4	2	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13246221C>T	ENST00000378694.1	+	17	2430	c.2355C>T	c.(2353-2355)tgC>tgT	p.C785C	MCM10_ENST00000378714.3_Silent_p.C785C|MCM10_ENST00000484800.2_Silent_p.C786C			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	786					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						CTGTGCAGTGCGCCTATACCC	0.522													T	13246221	C	T	13246221	2	4	364	1	0	0	0	0	0	0	0	1	9460	776	27	1		1	MCM10	10	13246221	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15165	13246221	122288526	7718	31220											
UCMA	221044	broad.mit.edu	37	chr10	13276238	13276238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcggagaagcaagacagcagGacggcctgtctccaagtcat	12	5	13	11	2	2	2	1	0	1	2	3	4	2	3	2	3	2	2	2	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276238G>A	ENST00000378681.3	-	1	93	c.21C>T	c.(19-21)gtC>gtT	p.V7V	UCMA_ENST00000463405.2_Silent_p.V7V	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	7						proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						AAGACAGCAGGACGGCCTGTC	0.582													A	13276238	G	A	13276238	2	1	364	1	0	0	0	0	0	0	0	1	17028	1161	41	2		2	UCMA	10	13276238	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30017	13276238	122258509	7719	31221											
UCMA	221044	broad.mit.edu	37	chr10	13276280	13276280	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagaggtaggggctccGtccaggacccacaaggcaga	10	6	14	11	1	0	2	0	0	0	2	2	3	2	3	3	5	1	4	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13276280G>A	ENST00000378681.3	-	0	51				UCMA_ENST00000463405.2_De_novo_Start_OutOfFrame	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated							proteinaceous extracellular matrix				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						TAGGGGCTCCGTCCAGGACCC	0.627													A	13276280	G	A	13276280	1	1	364	1	0	0	0	0	0	0	0	0	17028	1160	40	1		1	UCMA	10	13276280	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42	13276280	122258467	7720	31222											
FRMD4A	55691	broad.mit.edu	37	chr10	13701455	13701455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttcctccgccggcttccGcacagcttcctgtgctgggg	2	11	12	16	3	0	0	0	0	0	0	4	0	4	0	5	3	3	5	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:13701455G>A	ENST00000357447.2	-	21	2302	c.1934C>T	c.(1933-1935)gCg>gTg	p.A645V	FRMD4A_ENST00000358621.4_Missense_Mutation_p.A630V|FRMD4A_ENST00000378503.1_Missense_Mutation_p.A645V	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	645	Ser-rich.					cytoplasm|cytoskeleton	binding	p.A645V(1)		breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						GCCGGCTTCCGCACAGCTTCC	0.657													A	13701455	G	A	13701455	3	1	364	1	0	0	0	0	1	0	0	0	6103	1087	38	1	1201	1	FRMD4A	10	13701455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	425175	13701455	121833292	7721	31223											
FAM107B	83641	broad.mit.edu	37	chr10	14563963	14563963	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttattacttggtctcGttttcttttttccatcacct	4	22	4	11	1	3	0	1	0	2	0	5	0	4	0	2	1	2	2	2	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14563963G>A	ENST00000181796.2	-	4	942	c.709C>T	c.(709-711)Cga>Tga	p.R237*	FAM107B_ENST00000378462.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000479731.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378470.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000468747.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378458.2_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378465.3_Nonsense_Mutation_p.R62*|FAM107B_ENST00000496330.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000478076.1_Nonsense_Mutation_p.R62*|FAM107B_ENST00000378467.4_Nonsense_Mutation_p.R62*	NM_031453.2	NP_113641.2	Q9H098	F107B_HUMAN	family with sequence similarity 107, member B	62										breast(7)|kidney(1)|large_intestine(4)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						ACTTGGTCTCGTTTTCTTTTT	0.398													A	14563963	G	A	14563963	4	1	364	1	0	0	0	0	0	1	0	0	5435	1153	40	1	219	1	FAM107B	10	14563963	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	862508	14563963	120970784	7722	31224											
HSPA14	51182	broad.mit.edu	37	chr10	14909123	14909123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcgaatcccaaagctacaGcaactgattaaagatctttt	14	12	5	10	1	2	2	0	1	2	1	4	3	3	2	1	0	4	2	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:14909123G>T	ENST00000378372.3	+	11	1274	c.1035G>T	c.(1033-1035)caG>caT	p.Q345H		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	345					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						CAAAGCTACAGCAACTGATTA	0.383													T	14909123	G	T	14909123	3	4	364	1	0	0	0	0	1	0	0	0	7464	962	34	4	1077	4	HSPA14	10	14909123	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	345160	14909123	120625624	7723	31225											
NMT2	9397	broad.mit.edu	37	chr10	15170447	15170447	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttctggggtttagtgatcGatgccagtatctggaataca	9	15	11	6	1	2	1	0	1	2	0	3	3	2	2	1	3	2	2	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15170447G>A	ENST00000378165.4	-	8	981	c.901C>T	c.(901-903)Cga>Tga	p.R301*	NMT2_ENST00000535341.1_Nonsense_Mutation_p.R288*|NMT2_ENST00000540259.1_Nonsense_Mutation_p.R113*|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Nonsense_Mutation_p.R288*	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	301					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TTTAGTGATCGATGCCAGTAT	0.338													A	15170447	G	A	15170447	4	1	364	1	0	0	0	0	0	1	0	0	10580	1066	37	1	615	1	NMT2	10	15170447	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261324	15170447	120364300	7724	31226											
NMT2	9397	broad.mit.edu	37	chr10	15175059	15175059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagacttaccacaacaGgaactcgggtgaatagtcaa	15	7	10	9	2	1	2	1	2	0	1	2	5	1	3	1	2	3	0	1	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15175059G>T	ENST00000378165.4	-	5	675	c.595C>A	c.(595-597)Ctg>Atg	p.L199M	NMT2_ENST00000535341.1_Missense_Mutation_p.L186M|NMT2_ENST00000540259.1_Missense_Mutation_p.L11M|RPP38_ENST00000451677.1_Intron|NMT2_ENST00000378150.1_Missense_Mutation_p.L186M	NM_004808.2	NP_004799.1	O60551	NMT2_HUMAN	N-myristoyltransferase 2	199					N-terminal protein myristoylation|protein lipoylation	Golgi apparatus|plasma membrane	glycylpeptide N-tetradecanoyltransferase activity			breast(3)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(3)	21						TACCACAACAGGAACTCGGGT	0.433													T	15175059	G	T	15175059	3	4	364	1	0	0	0	0	1	0	0	0	10580	991	35	4	933	4	NMT2	10	15175059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4612	15175059	120359688	7725	31227											
FAM171A1	221061	broad.mit.edu	37	chr10	15256192	15256192	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagattttcttgcctttaaGggaaaaacctccactgactt	12	14	6	9	0	1	2	0	1	1	1	2	3	2	3	3	1	2	0	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256192G>T	ENST00000378116.4	-	8	1401	c.1395C>A	c.(1393-1395)ccC>ccA	p.P465P	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	465			P -> S (in dbSNP:rs3814165).			integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TTGCCTTTAAGGGAAAAACCT	0.463													T	15256192	G	T	15256192	2	4	364	1	0	0	0	0	0	0	0	1	5535	987	35	4		4	FAM171A1	10	15256192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81133	15256192	120278555	7726	31228											
FAM171A1	221061	broad.mit.edu	37	chr10	15256494	15256494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacgctcggcgtgaaaacaGcaagttaatgtgtgacatgg	12	9	13	7	3	0	3	0	3	0	0	1	3	0	3	0	2	2	3	0	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15256494G>T	ENST00000378116.4	-	8	1099	c.1093C>A	c.(1093-1095)Ctg>Atg	p.L365M	FAM171A1_ENST00000477161.1_5'UTR	NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	365						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CGTGAAAACAGCAAGTTAATG	0.587													T	15256494	G	T	15256494	3	4	364	1	0	0	0	0	1	0	0	0	5535	962	34	4	1583	4	FAM171A1	10	15256494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	302	15256494	120278253	7727	31229											
FAM171A1	221061	broad.mit.edu	37	chr10	15296864	15296864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctctggaaatgaacgcgagGctgtggccgggcacctgcag	8	7	15	11	3	1	1	0	1	1	0	2	3	1	2	2	4	2	3	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15296864G>A	ENST00000378116.4	-	4	439	c.433C>T	c.(433-435)Cct>Tct	p.P145S		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	145						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						TGAACGCGAGGCTGTGGCCGG	0.552													A	15296864	G	A	15296864	3	1	364	1	0	0	0	0	1	0	0	0	5535	1203	42	2	2259	2	FAM171A1	10	15296864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40370	15296864	120237883	7728	31230											
ITGA8	8516	broad.mit.edu	37	chr10	15649769	15649769	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatggttatcaaggaaGagcgtccgtttaatagctcc	10	11	11	9	2	1	2	1	1	0	1	3	3	3	3	3	2	2	3	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15649769G>T	ENST00000378076.3	-	17	2024	c.1671C>A	c.(1669-1671)ctC>ctA	p.L557L		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	557					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TATCAAGGAAGAGCGTCCGTT	0.428													T	15649769	G	T	15649769	2	4	364	1	0	0	0	0	0	0	0	1	7940	929	33	4		4	ITGA8	10	15649769	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	352905	15649769	119884978	7729	31231											
ITGA8	8516	broad.mit.edu	37	chr10	15726009	15726009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaagttgcttactgttccGgcaaggagagaactcggcat	12	10	11	8	2	0	1	0	0	0	1	2	3	1	2	1	3	3	5	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726009G>A	ENST00000378076.3	-	4	915	c.562C>T	c.(562-564)Cgg>Tgg	p.R188W		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	188				R -> G (in Ref. 5; AAA93514).	cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TTACTGTTCCGGCAAGGAGAG	0.453													A	15726009	G	A	15726009	3	1	364	1	0	0	0	0	1	0	0	0	7940	1115	39	1	2737	1	ITGA8	10	15726009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76240	15726009	119808738	7730	31232											
ITGA8	8516	broad.mit.edu	37	chr10	15726032	15726032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggagagaactcggcatagGcgctgaagttctgaattgct	12	9	13	7	2	1	3	0	2	1	1	2	5	1	4	0	3	2	4	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15726032G>A	ENST00000378076.3	-	4	892	c.539C>T	c.(538-540)gCc>gTc	p.A180V		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	180					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						CTCGGCATAGGCGCTGAAGTT	0.463													A	15726032	G	A	15726032	3	1	364	1	0	0	0	0	1	0	0	0	7940	1203	42	2	2760	2	ITGA8	10	15726032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23	15726032	119808715	7731	31233											
FAM188A	80013	broad.mit.edu	37	chr10	15902255	15902255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagaccggggctgctcttgGtgccccacaccagctccatc	7	7	11	16	1	1	1	0	0	1	1	3	2	2	1	5	3	3	3	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:15902255G>A	ENST00000277632.3	-	1	264	c.44C>T	c.(43-45)aCc>aTc	p.T15I	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	15					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						GCTGCTCTTGGTGCCCCACAC	0.622													A	15902255	G	A	15902255	3	1	364	1	0	0	0	0	1	0	0	0	5560	1261	44	2	1353	2	FAM188A	10	15902255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176223	15902255	119632492	7732	31234											
PTER	9317	broad.mit.edu	37	chr10	16528435	16528435	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattggagaaattggttgcTcctggcctttgactgagagt	8	15	12	6	0	0	3	0	2	0	2	1	5	1	3	2	3	1	2	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16528435T>G	ENST00000378000.1	+	4	763	c.517T>G	c.(517-519)Tcc>Gcc	p.S173A	PTER_ENST00000298942.3_Missense_Mutation_p.S173A|PTER_ENST00000535784.2_Missense_Mutation_p.S173A|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000423462.2_Missense_Mutation_p.S173A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	173					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AATTGGTTGCTCCTGGCCTTT	0.478													G	16528435	T	G	16528435	3	3	364	1	0	0	0	0	1	0	0	0	12824	1551	54	5	523	5	PTER	10	16528435	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	626180	16528435	119006312	7733	31235											
CUBN	8029	broad.mit.edu	37	chr10	16877108	16877108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggggggctgtgagagtaaCggtgcaatccttgtcattgt	7	12	15	7	1	1	1	1	1	0	1	2	2	2	1	1	4	2	3	1	4	2	3	rs145872906	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16877108C>T	ENST00000377833.4	-	64	10332	c.10267G>A	c.(10267-10269)Gtt>Att	p.V3423I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	3423	CUB 26.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGAGAGTAACGGTGCAATCC	0.453													T	16877108	C	T	16877108	3	4	364	1	0	0	0	0	1	0	0	0	4084	536	19	1	620	1	CUBN	10	16877108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348673	16877108	118657639	7734	31236											
CUBN	8029	broad.mit.edu	37	chr10	16942837	16942837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggggttcaatatcaaagtCactaaatgtgagctgcagga	14	10	11	6	0	3	1	3	1	0	0	3	2	3	2	0	3	2	3	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:16942837C>T	ENST00000377833.4	-	53	8262	c.8197G>A	c.(8197-8199)Gac>Aac	p.D2733N		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2733	CUB 20.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATATCAAAGTCACTAAATGTG	0.403													T	16942837	C	T	16942837	3	4	364	1	0	0	0	0	1	0	0	0	4084	826	29	2	2734	2	CUBN	10	16942837	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65729	16942837	118591910	7735	31237											
CUBN	8029	broad.mit.edu	37	chr10	17083137	17083137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatggtccagttgcaatgCtgattttcagaataaggatt	11	13	11	6	1	1	2	1	1	0	1	2	4	2	4	1	3	2	3	1	3	3	5	rs139281325		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17083137C>T	ENST00000377833.4	-	27	3977	c.3912G>A	c.(3910-3912)caG>caA	p.Q1304Q		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1304	CUB 8.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AGTTGCAATGCTGATTTTCAG	0.393													T	17083137	C	T	17083137	2	4	364	1	0	0	0	0	0	0	0	1	4084	796	28	2		2	CUBN	10	17083137	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140300	17083137	118451610	7736	31238											
CUBN	8029	broad.mit.edu	37	chr10	17089500	17089500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcaatcagttggccagttCtcactgtgatccgataaatg	10	12	9	10	1	2	1	2	1	1	0	4	2	3	1	2	1	1	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17089500C>T	ENST00000377833.4	-	23	3307	c.3242G>A	c.(3241-3243)aGa>aAa	p.R1081K		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1081	CUB 6.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGGCCAGTTCTCACTGTGAT	0.413													T	17089500	C	T	17089500	3	4	364	1	0	0	0	0	1	0	0	0	4084	913	32	2	7809	2	CUBN	10	17089500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6363	17089500	118445247	7737	31239											
CUBN	8029	broad.mit.edu	37	chr10	17107602	17107602	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcaatgagttaccactgCttgtgagagatggcgggatc	10	10	13	8	1	1	3	1	2	0	1	2	5	1	4	1	2	2	3	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17107602C>A	ENST00000377833.4	-	22	3109	c.3044G>T	c.(3043-3045)aGc>aTc	p.S1015I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1015	CUB 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTTACCACTGCTTGTGAGAGA	0.413													A	17107602	C	A	17107602	3	1	364	1	0	0	0	0	1	0	0	0	4084	797	28	4	8011	4	CUBN	10	17107602	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18102	17107602	118427145	7738	31240											
CUBN	8029	broad.mit.edu	37	chr10	17147575	17147575	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagagaggtaaggaacCtgttcagaaataaaaacaaa	19	6	10	6	1	1	2	1	0	0	2	1	4	1	3	1	2	3	3	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17147575C>A	ENST00000377833.4	-	11	1177		c.e11-1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGTAAGGAACCTGTTCAGAAA	0.453													A	17147575	C	A	17147575	5	1	364	1	0	0	0	0	0	0	1	0	4084	695	24	4	9988	4	CUBN	10	17147575	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39973	17147575	118387172	7739	31241											
CUBN	8029	broad.mit.edu	37	chr10	17151674	17151674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgaggcatctgggtggcagCctccattactgactgagcag	9	9	13	10	0	1	3	0	3	1	0	2	3	2	3	2	3	3	3	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17151674C>T	ENST00000377833.4	-	10	1141	c.1076G>A	c.(1075-1077)gGc>gAc	p.G359D		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	359	EGF-like 5.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGGGTGGCAGCCTCCATTACT	0.458													T	17151674	C	T	17151674	3	4	364	1	0	0	0	0	1	0	0	0	4084	739	26	2	10027	2	CUBN	10	17151674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4099	17151674	118383073	7740	31242											
CUBN	8029	broad.mit.edu	37	chr10	17164793	17164793	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaaaaaaaaaaaaagttaCctgtaacttcccattgtatt	21	11	3	6	0	0	0	0	0	0	0	1	0	1	0	2	0	2	3	2	0	11	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17164793C>T	ENST00000377833.4	-	6	659		c.e6+1			NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)						cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAAAAAGTTACCTGTAACTTC	0.363													T	17164793	C	T	17164793	5	4	364	1	0	0	0	0	0	0	1	0	4084	521	18	2	10525	2	CUBN	10	17164793	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13119	17164793	118369954	7741	31243											
VIM	7431	broad.mit.edu	37	chr10	17277273	17277273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaggatgagattcagaatAtgaaggaggaaatggctcgt	14	9	14	4	1	1	3	1	2	0	2	2	7	1	6	0	4	1	2	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277273A>G	ENST00000544301.1	+	7	1527	c.1114A>G	c.(1114-1116)Atg>Gtg	p.M372V	VIM_ENST00000224237.5_Missense_Mutation_p.M372V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	372	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GATTCAGAATATGAAGGAGGA	0.493													G	17277273	A	G	17277273	3	3	364	1	0	0	0	0	1	0	0	0	17268	449	16	3	1136	3	VIM	10	17277273	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	112480	17277273	118257474	7742	31244											
VIM	7431	broad.mit.edu	37	chr10	17277379	17277379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagctgctggaaggcgAggagagcaggtagggaactc	12	4	18	7	1	0	1	0	0	0	1	1	6	0	4	0	6	4	4	0	6	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:17277379A>T	ENST00000544301.1	+	7	1633	c.1220A>T	c.(1219-1221)gAg>gTg	p.E407V	VIM_ENST00000224237.5_Missense_Mutation_p.E407V	NM_003380.3	NP_003371.2	P08670	VIME_HUMAN	vimentin	407	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular component movement|interspecies interaction between organisms|muscle filament sliding	cytosol|intermediate filament	protein C-terminus binding|structural constituent of cytoskeleton			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CTGGAAGGCGAGGAGAGCAGG	0.498													T	17277379	A	T	17277379	3	4	364	1	0	0	0	0	1	0	0	0	17268	304	11	5	1242	5	VIM	10	17277379	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	106	17277379	118257368	7743	31245											
CACNB2	783	broad.mit.edu	37	chr10	18807845	18807845	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaattgcaggtcacaGatatgatgcaaaaagcgctg	13	10	10	8	1	2	2	2	1	0	1	2	2	2	2	0	1	4	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18807845G>T	ENST00000396576.2	+	8	1228	c.727G>T	c.(727-729)Gat>Tat	p.D243Y	CACNB2_ENST00000352115.6_Missense_Mutation_p.D274Y|CACNB2_ENST00000377331.2_Missense_Mutation_p.D246Y|CACNB2_ENST00000377319.3_Missense_Mutation_p.D205Y|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.D298Y|CACNB2_ENST00000377329.4_Missense_Mutation_p.D244Y|CACNB2_ENST00000282343.8_Missense_Mutation_p.D270Y|CACNB2_ENST00000377315.4_Missense_Mutation_p.D250Y|CACNB2_ENST00000377328.1_Intron	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	298					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GCAGGTCACAGATATGATGCA	0.333													T	18807845	G	T	18807845	3	4	364	1	0	0	0	0	1	0	0	0	2579	942	33	4	1236	4	CACNB2	10	18807845	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1530466	18807845	116726902	7744	31246											
CACNB2	783	broad.mit.edu	37	chr10	18828539	18828539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacaacgagtgcaacaaGcagcgcagccgtcataaatc	15	4	9	13	3	1	0	1	0	0	0	2	2	1	0	2	0	6	3	2	0	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:18828539G>T	ENST00000396576.2	+	13	2205	c.1704G>T	c.(1702-1704)aaG>aaT	p.K568N	CACNB2_ENST00000352115.6_Missense_Mutation_p.K599N|CACNB2_ENST00000377331.2_Missense_Mutation_p.K571N|CACNB2_ENST00000377319.3_Missense_Mutation_p.K530N|RP11-499P20.2_ENST00000425669.1_RNA|CACNB2_ENST00000324631.7_Missense_Mutation_p.K623N|CACNB2_ENST00000377329.4_Missense_Mutation_p.K569N|CACNB2_ENST00000282343.8_Missense_Mutation_p.K595N|CACNB2_ENST00000377315.4_Missense_Mutation_p.K575N|CACNB2_ENST00000377328.1_Missense_Mutation_p.K373N	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	623					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGTGCAACAAGCAGCGCAGCC	0.547													T	18828539	G	T	18828539	3	4	364	1	0	0	0	0	1	0	0	0	2579	962	34	4	2233	4	CACNB2	10	18828539	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20694	18828539	116706208	7745	31247											
NEBL	10529	broad.mit.edu	37	chr10	21074810	21074810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctaaaggagacctcgtCttcatcctgggcactgtaat	9	12	9	11	1	3	1	1	0	2	1	6	2	4	1	2	2	0	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21074810C>A	ENST00000377122.4	-	28	3307	c.2911G>T	c.(2911-2913)Gac>Tac	p.D971Y	NEBL_ENST00000417816.2_Missense_Mutation_p.D227Y|NEBL_ENST00000377159.4_Missense_Mutation_p.D193Y	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	971	SH3.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						GAGACCTCGTCTTCATCCTGG	0.498													A	21074810	C	A	21074810	3	1	364	1	0	0	0	0	1	0	0	0	10379	913	32	4	137	4	NEBL	10	21074810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2246271	21074810	114459937	7746	31248											
NEBL	10529	broad.mit.edu	37	chr10	21101818	21101818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacaggatcgtccacgaCgggagtaaagcctctcccct	9	8	10	14	3	2	0	1	0	1	0	5	3	3	2	4	2	1	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21101818C>T	ENST00000377122.4	-	24	2794	c.2398G>A	c.(2398-2400)Gtc>Atc	p.V800I	NEBL_ENST00000417816.2_Missense_Mutation_p.V137I|NEBL_ENST00000377159.4_Missense_Mutation_p.V103I	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	800					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TCGTCCACGACGGGAGTAAAG	0.458													T	21101818	C	T	21101818	3	4	364	1	0	0	0	0	1	0	0	0	10379	536	19	1	666	1	NEBL	10	21101818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27008	21101818	114432929	7747	31249											
NEBL	10529	broad.mit.edu	37	chr10	21120450	21120450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctctggacatcaagagtGtctgtgctcacctgcatccc	7	11	9	14	0	4	1	2	0	2	1	6	2	5	2	2	1	2	3	2	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:21120450G>C	ENST00000377122.4	-	15	1908	c.1512C>G	c.(1510-1512)gaC>gaG	p.D504E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	504					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATCAAGAGTGTCTGTGCTCA	0.418													C	21120450	G	C	21120450	3	2	364	1	0	0	0	0	1	0	0	0	10379	1368	48	4	1588	4	NEBL	10	21120450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18632	21120450	114414297	7748	31250											
MLLT10	8028	broad.mit.edu	37	chr10	22002827	22002827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatttgcaacaagtaggagCgctctctccctcagctgtgt	8	11	10	12	1	2	0	1	0	1	0	4	1	3	1	1	1	4	5	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22002827C>T	ENST00000377072.3	+	15	2222	c.1874C>T	c.(1873-1875)gCg>gTg	p.A625V	MLLT10_ENST00000446906.2_Missense_Mutation_p.A609V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A609V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A609V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	625	DNA-binding.				positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTAGGAGCGCTCTCTCCC	0.483			T	"MLL, PICALM, CDK6"	AL								T	22002827	C	T	22002827	3	4	364	1	0	0	0	0	1	0	0	0	9701	768	27	1	1928	1	MLLT10	10	22002827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	882377	22002827	113531920	7749	31251											
PIP4K2A	5305	broad.mit.edu	37	chr10	22830767	22830767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attccatagacgtcgatgttCggatcgaactccccgggagc	9	9	11	12	5	0	1	0	0	0	1	5	5	2	3	3	2	2	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22830767C>T	ENST00000376573.4	-	8	1230	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PIP4K2A_ENST00000323883.7_Silent_p.P194P|PIP4K2A_ENST00000545335.1_Silent_p.P275P	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	334	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						CGTCGATGTTCGGATCGAACT	0.537													T	22830767	C	T	22830767	2	4	364	1	0	0	0	0	0	0	0	1	12013	871	31	1		1	PIP4K2A	10	22830767	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	827940	22830767	112703980	7750	31252											
PIP4K2A	5305	broad.mit.edu	37	chr10	22839649	22839649	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgtcatcaatataaatcTtttggccctcattaatgaaa	13	16	5	7	0	4	1	3	1	1	0	4	1	4	1	1	1	0	1	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:22839649T>G	ENST00000376573.4	-	7	959	c.731A>C	c.(730-732)aAg>aCg	p.K244T	PIP4K2A_ENST00000323883.7_Missense_Mutation_p.K104T|PIP4K2A_ENST00000545335.1_Missense_Mutation_p.K185T	NM_005028.4	NP_005019.2	P48426	PI42A_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, alpha	244	PIPK.						1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding			endometrium(4)|kidney(13)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	29						AATATAAATCTTTTGGCCCTC	0.363											OREG0020068	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	22839649	T	G	22839649	3	3	364	1	0	0	0	0	1	0	0	0	12013	1609	56	5	505	5	PIP4K2A	10	22839649	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8882	22839649	112695098	7751	31253											
MSRB2	22921	broad.mit.edu	37	chr10	23408358	23408358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctcgttaggatcagctcGcacagaggttgtctgcaagc	9	10	11	11	2	2	1	1	0	1	1	4	2	2	2	1	2	4	5	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23408358G>A	ENST00000376510.3	+	4	525	c.422G>A	c.(421-423)cGc>cAc	p.R141H	MSRB2_ENST00000468633.1_3'UTR	NM_012228.3	NP_036360.3	Q9Y3D2	MSRB2_HUMAN	methionine sulfoxide reductase B2	141					protein repair	mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	9					L-Methionine(DB00134)	GGATCAGCTCGCACAGAGGTT	0.512													A	23408358	G	A	23408358	3	1	364	1	0	0	0	0	1	0	0	0	9964	1087	38	1	436	1	MSRB2	10	23408358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	568709	23408358	112126389	7752	31254											
PTF1A	256297	broad.mit.edu	37	chr10	23482768	23482768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccccagaggaccccaGaaaactcaacagcaaatctt	15	5	7	14	0	2	2	1	0	1	2	2	4	2	4	4	2	3	1	4	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:23482768G>T	ENST00000376504.3	+	2	1124	c.920G>T	c.(919-921)aGa>aTa	p.R307I		NM_178161.2	NP_835455.1	Q7RTS3	PTF1A_HUMAN	pancreas specific transcription factor, 1a	307					endocrine pancreas development|exocrine pancreas development|regulation of transcription, DNA-dependent|tissue development|transcription, DNA-dependent	cytoplasm|transcription factor complex				endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(1)	7						GAGGACCCCAGAAAACTCAAC	0.453													T	23482768	G	T	23482768	3	4	364	1	0	0	0	0	1	0	0	0	12825	942	33	4	926	4	PTF1A	10	23482768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74410	23482768	112051979	7753	31255											
KIAA1217	56243	broad.mit.edu	37	chr10	24762394	24762394	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtctccagacccatctctCcaagcccaagcgccatttta	10	9	5	17	1	2	1	0	0	2	1	5	1	3	1	5	0	2	0	5	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24762394C>A	ENST00000376451.2	+	2	498	c.238C>A	c.(238-240)Cca>Aca	p.P80T	KIAA1217_ENST00000376454.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000307544.6_Missense_Mutation_p.P80T|KIAA1217_ENST00000376462.1_Missense_Mutation_p.P282T|KIAA1217_ENST00000376452.3_Missense_Mutation_p.P362T|KIAA1217_ENST00000430453.2_Missense_Mutation_p.P283T|KIAA1217_ENST00000458595.1_Missense_Mutation_p.P362T|KIAA1217_ENST00000396446.1_Missense_Mutation_p.P80T|KIAA1217_ENST00000396445.1_Missense_Mutation_p.P80T			Q5T5P2	SKT_HUMAN	KIAA1217	362					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ACCCATCTCTCCAAGCCCAAG	0.502													A	24762394	C	A	24762394	3	1	364	1	0	0	0	0	1	0	0	0	8274	855	30	4	1106	4	KIAA1217	10	24762394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1279626	24762394	110772353	7754	31256											
KIAA1217	56243	broad.mit.edu	37	chr10	24790356	24790356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagtgctctggagtccaCggtgcctcccagccagcctc	5	8	11	17	1	2	0	1	0	1	0	5	1	4	1	5	2	4	2	5	2	0	0	rs141937477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24790356C>T	ENST00000376451.2	+	4	1192	c.932C>T	c.(931-933)aCg>aTg	p.T311M	KIAA1217_ENST00000376454.3_Missense_Mutation_p.T628M|KIAA1217_ENST00000307544.6_Missense_Mutation_p.T311M|KIAA1217_ENST00000376462.1_Missense_Mutation_p.T548M|KIAA1217_ENST00000376452.3_Missense_Mutation_p.T593M|KIAA1217_ENST00000430453.2_Missense_Mutation_p.T514M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.T593M|KIAA1217_ENST00000396446.1_Missense_Mutation_p.T311M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.T311M			Q5T5P2	SKT_HUMAN	KIAA1217	628	Pro-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTGGAGTCCACGGTGCCTCCC	0.582													T	24790356	C	T	24790356	3	4	364	1	0	0	0	0	1	0	0	0	8274	536	19	1	1917	1	KIAA1217	10	24790356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27962	24790356	110744391	7755	31257											
KIAA1217	56243	broad.mit.edu	37	chr10	24809090	24809090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaagacttgaagaaggactCcacggcagccagccgattgg	12	6	13	10	2	0	4	0	2	0	2	1	6	1	5	3	3	2	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24809090C>A	ENST00000376451.2	+	6	1525	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	KIAA1217_ENST00000376454.3_Missense_Mutation_p.S739Y|KIAA1217_ENST00000307544.6_Missense_Mutation_p.S422Y|KIAA1217_ENST00000376462.1_Missense_Mutation_p.S659Y|KIAA1217_ENST00000376452.3_Missense_Mutation_p.S704Y|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000458595.1_Missense_Mutation_p.S704Y|KIAA1217_ENST00000396446.1_Missense_Mutation_p.S422Y|KIAA1217_ENST00000396445.1_Missense_Mutation_p.S422Y			Q5T5P2	SKT_HUMAN	KIAA1217	739					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGAAGGACTCCACGGCAGCC	0.542													A	24809090	C	A	24809090	3	1	364	1	0	0	0	0	1	0	0	0	8274	855	30	4	2258	4	KIAA1217	10	24809090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18734	24809090	110725657	7756	31258											
KIAA1217	56243	broad.mit.edu	37	chr10	24822049	24822049	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccagagctacaaaataTccagcagaggagcctgcttc	14	6	9	12	0	0	3	0	0	0	3	2	4	1	4	3	1	5	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24822049T>A	ENST00000376451.2	+	11	2606	c.2346T>A	c.(2344-2346)taT>taA	p.Y782*	KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.Y1099*|KIAA1217_ENST00000307544.6_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000376462.1_Nonsense_Mutation_p.Y1019*|KIAA1217_ENST00000376452.3_Nonsense_Mutation_p.Y1063*|KIAA1217_ENST00000458595.1_Nonsense_Mutation_p.Y1064*|KIAA1217_ENST00000396446.1_Nonsense_Mutation_p.Y782*|KIAA1217_ENST00000396445.1_Nonsense_Mutation_p.Y782*			Q5T5P2	SKT_HUMAN	KIAA1217	1099					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTACAAAATATCCAGCAGAGG	0.512													A	24822049	T	A	24822049	4	1	364	1	0	0	0	0	0	1	0	0	8274	1442	50	5	3359	5	KIAA1217	10	24822049	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12959	24822049	110712698	7757	31259											
KIAA1217	56243	broad.mit.edu	37	chr10	24825761	24825761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcatgctgagccatcccGggctgacagtcacgttaaag	10	8	11	12	2	2	2	2	2	0	0	3	2	3	2	2	1	2	3	2	1	2	1	rs145406190		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24825761G>T	ENST00000376451.2	+	12	2782	c.2522G>T	c.(2521-2523)cGg>cTg	p.R841L	KIAA1217_ENST00000376454.3_Missense_Mutation_p.R1158L|KIAA1217_ENST00000307544.6_Missense_Mutation_p.R841L|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R1122L|KIAA1217_ENST00000458595.1_Missense_Mutation_p.R1123L|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Missense_Mutation_p.R841L			Q5T5P2	SKT_HUMAN	KIAA1217	1158					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GAGCCATCCCGGGCTGACAGT	0.488													T	24825761	G	T	24825761	3	4	364	1	0	0	0	0	1	0	0	0	8274	1116	39	4	3539	4	KIAA1217	10	24825761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3712	24825761	110708986	7758	31260											
KIAA1217	56243	broad.mit.edu	37	chr10	24833163	24833163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatctccgatttcaagaaCtgatgaaattagaaaaaaca	19	10	5	7	1	2	4	1	2	1	2	3	5	2	4	1	0	3	0	1	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24833163C>T	ENST00000376451.2	+	14	4273	c.4013C>T	c.(4012-4014)aCt>aTt	p.T1338I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.T1655I|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1655					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ATTTCAAGAACTGATGAAATT	0.453													T	24833163	C	T	24833163	3	4	364	1	0	0	0	0	1	0	0	0	8274	565	20	2	5038	2	KIAA1217	10	24833163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7402	24833163	110701584	7759	31261											
KIAA1217	56243	broad.mit.edu	37	chr10	24835130	24835130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccttctcctgcctcctcCgtctcactgaatcaaggtgc	5	12	6	18	1	3	1	2	1	2	0	8	1	6	1	6	1	2	0	6	1	2	1	rs138680991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24835130C>T	ENST00000376454.3	+	21	5739	c.5709C>T	c.(5707-5709)tcC>tcT	p.S1903S	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000376462.1_Silent_p.S1224S|KIAA1217_ENST00000376452.3_Silent_p.S1334S|KIAA1217_ENST00000458595.1_Silent_p.S1309S|KIAA1217_ENST00000396445.1_3'UTR	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1903	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						ctgcctcctccgtctcACTGA	0.542													T	24835130	C	T	24835130	2	4	364	1	0	0	0	0	0	0	0	1	8274	639	23	1		1	KIAA1217	10	24835130	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1967	24835130	110699617	7760	31262											
ARHGAP21	57584	broad.mit.edu	37	chr10	24886401	24886401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagtttcctttccgaCtcttccttcggagagtgtgg	6	14	11	10	2	1	2	0	1	1	2	5	5	4	2	3	2	0	1	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24886401C>A	ENST00000396432.2	-	16	3795	c.3309G>T	c.(3307-3309)gaG>gaT	p.E1103D	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Missense_Mutation_p.E890D	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1102					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TCCTTTCCGACTCTTCCTTCG	0.398													A	24886401	C	A	24886401	3	1	364	1	0	0	0	0	1	0	0	0	874	564	20	4	2611	4	ARHGAP21	10	24886401	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51271	24886401	110648346	7761	31263											
ARHGAP21	57584	broad.mit.edu	37	chr10	24908579	24908579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgatgccttaaaggctGcggtgtctggcgtccagatg	8	10	14	9	2	1	3	0	1	1	2	2	3	2	3	2	3	2	1	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:24908579G>T	ENST00000396432.2	-	9	2731	c.2245C>A	c.(2245-2247)Cag>Aag	p.Q749K	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.Q536K	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	748					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CTTAAAGGCTGCGGTGTCTGG	0.473													T	24908579	G	T	24908579	3	4	364	1	0	0	0	0	1	0	0	0	874	1328	46	4	3703	4	ARHGAP21	10	24908579	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22178	24908579	110626168	7762	31264											
THNSL1	79896	broad.mit.edu	37	chr10	25312394	25312394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataggtcagaaactaggttGttgtgtcatagatgtggatg	12	13	13	3	0	2	2	2	0	0	2	2	3	2	3	0	3	1	2	0	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25312394G>A	ENST00000524413.1	+	3	589	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	THNSL1_ENST00000376356.4_Missense_Mutation_p.C81Y			Q8IYQ7	THNS1_HUMAN	threonine synthase-like 1 (S. cerevisiae)	81					threonine biosynthetic process		ATP binding|pyridoxal phosphate binding|shikimate kinase activity|threonine synthase activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(5)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28					L-Threonine(DB00156)|Pyridoxal Phosphate(DB00114)	AAACTAGGTTGTTGTGTCATA	0.388													A	25312394	G	A	25312394	3	1	364	1	0	0	0	0	1	0	0	0	15962	1377	48	2	244	2	THNSL1	10	25312394	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403815	25312394	110222353	7763	31265											
GPR158	57512	broad.mit.edu	37	chr10	25464695	25464695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggggaagtggccagccctgGccagcgcgcacccctccttg	5	5	14	17	3	0	0	0	0	0	0	1	1	1	1	6	4	2	1	6	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25464695G>A	ENST00000376351.3	+	1	705	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						GCCAGCCCTGGCCAGCGCGCA	0.657													A	25464695	G	A	25464695	3	1	364	1	0	0	0	0	1	0	0	0	6717	1203	42	2	348	2	GPR158	10	25464695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152301	25464695	110070052	7764	31266											
GPR158	57512	broad.mit.edu	37	chr10	25510037	25510037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacattgaccaatgctcaaGtgatggctggttttcaggaa	11	11	12	7	0	2	2	2	2	0	0	2	4	2	4	1	4	1	3	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25510037G>T	ENST00000376351.3	+	2	1318	c.959G>T	c.(958-960)aGt>aTt	p.S320I		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	320						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAATGCTCAAGTGATGGCTGG	0.343													T	25510037	G	T	25510037	3	4	364	1	0	0	0	0	1	0	0	0	6717	1029	36	4	965	4	GPR158	10	25510037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45342	25510037	110024710	7765	31267											
GPR158	57512	broad.mit.edu	37	chr10	25877997	25877997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgcggacagtcccatcGgcattccatgagccccgcta	8	7	11	15	3	0	1	0	1	0	0	3	2	2	2	4	2	2	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25877997G>A	ENST00000376351.3	+	8	2174	c.1815G>A	c.(1813-1815)tcG>tcA	p.S605S		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	605						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						CAGTCCCATCGGCATTCCATG	0.418													A	25877997	G	A	25877997	2	1	364	1	0	0	0	0	0	0	0	1	6717	1103	39	1		1	GPR158	10	25877997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367960	25877997	109656750	7766	31268											
GPR158	57512	broad.mit.edu	37	chr10	25878043	25878043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgttgcagttcacaatgagCtcatcatctctgctatattc	9	15	6	11	0	4	1	3	1	1	0	6	1	4	1	0	0	3	5	0	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25878043C>T	ENST00000376351.3	+	8	2220	c.1861C>T	c.(1861-1863)Ctc>Ttc	p.L621F		NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	621				ELIISAIFHTI -> SWIVNSMNSHF (in Ref. 3).		integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						TCACAATGAGCTCATCATCTC	0.398													T	25878043	C	T	25878043	3	4	364	1	0	0	0	0	1	0	0	0	6717	797	28	2	1891	2	GPR158	10	25878043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46	25878043	109656704	7767	31269											
GPR158	57512	broad.mit.edu	37	chr10	25887652	25887652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaaagcacgtatctattgtgGcttctgaaatggagaaaaac	16	10	9	6	1	2	2	0	1	2	1	2	3	2	2	0	2	2	3	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:25887652G>T	ENST00000376351.3	+	11	3456	c.3097G>T	c.(3097-3099)Gct>Tct	p.A1033S	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1033						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ATCTATTGTGGCTTCTGAAAT	0.458													T	25887652	G	T	25887652	3	4	364	1	0	0	0	0	1	0	0	0	6717	1203	42	4	3139	4	GPR158	10	25887652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9609	25887652	109647095	7768	31270											
MYO3A	53904	broad.mit.edu	37	chr10	26443734	26443734	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaacatgaaaacacaaacGgttgcatcatattttagagt	17	10	6	8	1	1	2	1	1	0	1	1	2	1	2	1	1	4	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26443734G>A	ENST00000265944.5	+	25	2941	c.2775G>A	c.(2773-2775)acG>acA	p.T925T	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	925	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AAACACAAACGGTTGCATCAT	0.403													A	26443734	G	A	26443734	2	1	364	1	0	0	0	0	0	0	0	1	10152	1103	39	1		1	MYO3A	10	26443734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	556082	26443734	109091013	7769	31271											
APBB1IP	54518	broad.mit.edu	37	chr10	26825126	26825126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcttctggaatttattatGtacccaaaggaaagactaag	14	11	10	6	0	1	1	0	0	1	1	1	3	1	3	1	3	1	2	1	3	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26825126G>A	ENST00000376236.4	+	10	1479	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	342	PH.				blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						AATTTATTATGTACCCAAAGG	0.343													A	26825126	G	A	26825126	3	1	364	1	0	0	0	0	1	0	0	0	762	1377	48	2	1054	2	APBB1IP	10	26825126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	381392	26825126	108709621	7770	31272											
PDSS1	23590	broad.mit.edu	37	chr10	26998656	26998656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcgaccaattattgtggcGctaatggcccgagcatgcaa	10	11	10	10	3	0	0	0	0	0	0	1	2	0	0	2	2	2	3	2	2	4	4	rs149274703	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:26998656G>A	ENST00000376215.5	+	5	479	c.426G>A	c.(424-426)gcG>gcA	p.A142A	PDSS1_ENST00000376203.5_Silent_p.A142A	NM_014317.3	NP_055132.2	Q5T2R2	DPS1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 1	142				A -> V (in Ref. 1; AAD28559).	isoprenoid biosynthetic process|ubiquinone biosynthetic process	mitochondrion	metal ion binding|protein heterodimerization activity			autonomic_ganglia(1)|endometrium(1)|kidney(7)|large_intestine(6)|lung(5)|prostate(1)	21						TTATTGTGGCGCTAATGGCCC	0.398													A	26998656	G	A	26998656	2	1	364	1	0	0	0	0	0	0	0	1	11769	1074	38	1		1	PDSS1	10	26998656	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173530	26998656	108536091	7771	31273											
YME1L1	10730	broad.mit.edu	37	chr10	27431370	27431370	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagctcttgaatgatgtcGatacaagcaagaggaacgta	16	8	11	6	2	1	4	0	2	1	2	2	6	1	5	0	1	4	3	0	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27431370G>A	ENST00000326799.3	-	5	695	c.547C>T	c.(547-549)Cga>Tga	p.R183*	YME1L1_ENST00000376016.3_Nonsense_Mutation_p.R126*|YME1L1_ENST00000375972.3_Intron	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	183					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						GAATGATGTCGATACAAGCAA	0.308													A	27431370	G	A	27431370	4	1	364	1	0	0	0	0	0	1	0	0	17589	1066	37	1	1838	1	YME1L1	10	27431370	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432714	27431370	108103377	7772	31274											
MASTL	84930	broad.mit.edu	37	chr10	27459940	27459940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgcaatggatatttcGtgtgcctacagtggttcata	10	15	10	6	1	1	1	1	0	0	1	2	2	1	2	1	2	3	2	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27459940G>A	ENST00000375946.4	+	8	2655	c.2052G>A	c.(2050-2052)tcG>tcA	p.S684S	MASTL_ENST00000342386.6_Silent_p.S684S|MASTL_ENST00000375940.4_Silent_p.S684S|MASTL_ENST00000477034.1_3'UTR	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	684	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TGGATATTTCGTGTGCCTACA	0.358													A	27459940	G	A	27459940	2	1	364	1	0	0	0	0	0	0	0	1	9403	1132	40	1		1	MASTL	10	27459940	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28570	27459940	108074807	7773	31275											
RAB18	22931	broad.mit.edu	37	chr10	27822776	27822776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctagttggaaataaaatCgataaggtaagaaggcagac	18	8	11	4	1	0	2	0	0	0	2	1	4	0	3	0	3	1	4	0	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27822776C>T	ENST00000356940.6	+	5	474	c.372C>T	c.(370-372)atC>atT	p.I124I	RAB18_ENST00000535776.1_Intron|RAB18_ENST00000375802.3_Silent_p.I79I|RAB18_ENST00000465772.1_3'UTR	NM_001256410.1|NM_001256415.1|NM_021252.4	NP_001243339.1|NP_001243344.1|NP_067075.1	Q9NP72	RAB18_HUMAN	RAB18, member RAS oncogene family	124					endocytosis|protein transport|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|GTPase activity|transcription factor binding			kidney(1)|large_intestine(1)|lung(1)	3						GAAATAAAATCGATAAGGTAA	0.313													T	27822776	C	T	27822776	2	4	364	1	0	0	0	0	0	0	0	1	12991	874	31	1		1	RAB18	10	27822776	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	362836	27822776	107711971	7774	31276											
MKX	283078	broad.mit.edu	37	chr10	27964176	27964176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttaaaactgctgcaccagCggcactttgacagtctttac	10	12	7	12	1	2	1	0	1	2	0	2	1	2	1	1	1	5	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:27964176C>T	ENST00000375790.5	-	7	1473	c.1041G>A	c.(1039-1041)ccG>ccA	p.P347P	MKX_ENST00000419761.1_Silent_p.P347P			Q8IYA7	MKX_HUMAN	mohawk homeobox	347					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GCTGCACCAGCGGCACTTTGA	0.463													T	27964176	C	T	27964176	2	4	364	1	0	0	0	0	0	0	0	1	9685	755	27	1		1	MKX	10	27964176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141400	27964176	107570571	7775	31277											
ARMC4	55130	broad.mit.edu	37	chr10	28151500	28151500	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatctgatttcagtaaatTgacaataagttccaaaccac	15	13	5	8	0	2	2	1	2	1	0	3	2	3	2	2	0	1	3	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28151500T>C	ENST00000305242.5	-	18	2754	c.2662A>G	c.(2662-2664)Aat>Gat	p.N888D	ARMC4_ENST00000537576.1_Missense_Mutation_p.N580D|ARMC4_ENST00000545014.1_Missense_Mutation_p.N413D	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	888							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TTCAGTAAATTGACAATAAGT	0.343													C	28151500	T	C	28151500	3	2	364	1	0	0	0	0	1	0	0	0	958	1812	63	3	484	3	ARMC4	10	28151500	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	187324	28151500	107383247	7776	31278											
ARMC4	55130	broad.mit.edu	37	chr10	28196637	28196637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcccatgctgcgctggcCttcacgtctgggtgaggatt	5	11	14	11	2	2	1	1	1	1	0	2	2	2	2	2	3	3	2	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28196637C>T	ENST00000305242.5	-	17	2657	c.2565G>A	c.(2563-2565)aaG>aaA	p.K855K	ARMC4_ENST00000537576.1_Silent_p.K547K|ARMC4_ENST00000545014.1_Silent_p.K380K	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	855							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						CTGCGCTGGCCTTCACGTCTG	0.433													T	28196637	C	T	28196637	2	4	364	1	0	0	0	0	0	0	0	1	958	680	24	2		2	ARMC4	10	28196637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45137	28196637	107338110	7777	31279											
ARMC4	55130	broad.mit.edu	37	chr10	28233780	28233780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggtttcaagcaaatttaTcagcacttccaggcctccaa	12	11	6	12	1	2	0	2	0	0	0	5	0	4	0	3	2	2	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28233780T>C	ENST00000305242.5	-	11	1590	c.1498A>G	c.(1498-1500)Ata>Gta	p.I500V	ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.I192V|ARMC4_ENST00000545014.1_Missense_Mutation_p.I25V	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	500							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						AGCAAATTTATCAGCACTTCC	0.478													C	28233780	T	C	28233780	3	2	364	1	0	0	0	0	1	0	0	0	958	1435	50	3	1676	3	ARMC4	10	28233780	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	37143	28233780	107300967	7778	31280											
ARMC4	55130	broad.mit.edu	37	chr10	28260120	28260120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaaattaatttggttCttctccagtgaccttttgtc	9	17	5	10	0	2	1	0	1	2	0	5	1	3	1	3	1	0	1	3	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28260120C>A	ENST00000305242.5	-	8	1151	c.1059G>T	c.(1057-1059)aaG>aaT	p.K353N	ARMC4_ENST00000239715.3_Missense_Mutation_p.K210N|ARMC4_ENST00000480504.1_5'UTR|ARMC4_ENST00000537576.1_Missense_Mutation_p.K45N|ARMC4_ENST00000545014.1_Intron	NM_018076.2	NP_060546.2	Q5T2S8	ARMC4_HUMAN	armadillo repeat containing 4	353							binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(17)|liver(1)|lung(17)|ovary(5)|prostate(3)|skin(8)|stomach(2)|urinary_tract(3)	75						TAATTTGGTTCTTCTCCAGTG	0.423													A	28260120	C	A	28260120	3	1	364	1	0	0	0	0	1	0	0	0	958	912	32	4	2127	4	ARMC4	10	28260120	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26340	28260120	107274627	7779	31281											
MPP7	143098	broad.mit.edu	37	chr10	28348654	28348654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcactctcctggcttCttcttgctctggtggtatct	4	16	7	14	0	6	0	1	0	5	0	7	0	6	0	2	3	1	3	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28348654C>A	ENST00000337532.5	-	15	1499	c.1223G>T	c.(1222-1224)aGa>aTa	p.R408I	MPP7_ENST00000445954.2_Missense_Mutation_p.R283I|MPP7_ENST00000375719.3_Missense_Mutation_p.R408I|MPP7_ENST00000375732.1_Missense_Mutation_p.R408I|MPP7_ENST00000540098.1_Missense_Mutation_p.R408I	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	408	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity	p.R408I(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CTCCTGGCTTCTTCTTGCTCT	0.338													A	28348654	C	A	28348654	3	1	364	1	0	0	0	0	1	0	0	0	9815	913	32	4	523	4	MPP7	10	28348654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88534	28348654	107186093	7780	31282											
MPP7	143098	broad.mit.edu	37	chr10	28358723	28358723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcactgtcacgccatagtgCtgggtgtcactgatcagcag	8	9	13	11	1	3	1	3	1	0	0	3	1	3	1	1	2	2	3	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28358723C>T	ENST00000337532.5	-	14	1458	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	MPP7_ENST00000445954.2_Silent_p.Q269Q|MPP7_ENST00000375719.3_Silent_p.Q394Q|MPP7_ENST00000375732.1_Silent_p.Q394Q|MPP7_ENST00000540098.1_Silent_p.Q394Q	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	394	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						CGCCATAGTGCTGGGTGTCAC	0.398													T	28358723	C	T	28358723	2	4	364	1	0	0	0	0	0	0	0	1	9815	796	28	2		2	MPP7	10	28358723	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10069	28358723	107176024	7781	31283											
WAC	51322	broad.mit.edu	37	chr10	28872387	28872387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttcatagttcaaatTcacattcttctaatccaagc	11	15	4	11	0	6	0	3	0	3	0	7	0	7	0	1	0	2	2	1	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28872387T>C	ENST00000375664.4	+	4	808	c.199T>C	c.(199-201)Tca>Cca	p.S67P	WAC_ENST00000428935.1_Missense_Mutation_p.S67P|WAC_ENST00000354911.4_Missense_Mutation_p.S112P|WAC_ENST00000347934.4_Missense_Mutation_p.S112P|WAC_ENST00000375646.1_Missense_Mutation_p.S67P			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TAGTTCAAATTCACATTCTTC	0.318													C	28872387	T	C	28872387	3	2	364	1	0	0	0	0	1	0	0	0	17349	1783	62	3	348	3	WAC	10	28872387	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	513664	28872387	106662360	7782	31284											
WAC	51322	broad.mit.edu	37	chr10	28899640	28899640	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttttagttcttacagcagCtgtgacacaagcctcactgc	9	13	8	11	0	2	1	1	1	1	0	2	1	2	1	1	0	5	4	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28899640C>T	ENST00000375664.4	+	9	1652	c.1043C>T	c.(1042-1044)gCt>gTt	p.A348V	WAC_ENST00000428935.1_Missense_Mutation_p.A348V|WAC_ENST00000354911.4_Missense_Mutation_p.A393V|WAC_ENST00000347934.4_Missense_Mutation_p.A290V|WAC_ENST00000375646.1_Splice_Site_p.A241V			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CTTACAGCAGCTGTGACACAA	0.383													T	28899640	C	T	28899640	3	4	364	1	0	0	0	0	1	0	0	0	17349	797	28	2	1212	2	WAC	10	28899640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27253	28899640	106635107	7783	31285											
WAC	51322	broad.mit.edu	37	chr10	28903584	28903584	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagcaaggtcatgaacCtgtctctcctcgaagtcttc	10	10	8	13	1	3	1	1	1	2	0	7	2	4	1	2	1	3	2	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:28903584C>A	ENST00000375664.4	+	11	2000	c.1391C>A	c.(1390-1392)cCt>cAt	p.P464H	WAC_ENST00000354911.4_Missense_Mutation_p.P509H|WAC_ENST00000347934.4_Missense_Mutation_p.P406H|WAC_ENST00000375646.1_Missense_Mutation_p.P357H			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						GGTCATGAACCTGTCTCTCCT	0.423													A	28903584	C	A	28903584	3	1	364	1	0	0	0	0	1	0	0	0	17349	681	24	4	1568	4	WAC	10	28903584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3944	28903584	106631163	7784	31286											
LYZL1	84569	broad.mit.edu	37	chr10	29599062	29599062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcactgatgacctcacaGatgcaattatctgtgccagg	11	11	9	10	0	3	4	2	3	1	1	3	4	3	4	2	1	2	1	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29599062G>T	ENST00000375500.3	+	4	517	c.460G>T	c.(460-462)Gat>Tat	p.D154Y		NM_032517.4	NP_115906.3	Q6UWQ5	LYZL1_HUMAN	lysozyme-like 1	108					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|cervix(2)|large_intestine(2)|lung(5)|skin(1)	11		Breast(68;0.203)				TGACCTCACAGATGCAATTAT	0.428													T	29599062	G	T	29599062	3	4	364	1	0	0	0	0	1	0	0	0	9202	942	33	4	474	4	LYZL1	10	29599062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	695478	29599062	105935685	7785	31287											
SVIL	6840	broad.mit.edu	37	chr10	29770598	29770598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctctttgaacaaaatcGtctcattgtgttcagtaagt	11	16	6	8	1	3	1	2	1	2	0	6	1	3	1	0	0	1	2	0	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29770598G>A	ENST00000375398.2	-	30	5464	c.5015C>T	c.(5014-5016)aCg>aTg	p.T1672M	PTCHD3P1_ENST00000413405.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.T586M|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.T1672M|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|SVIL_ENST00000538146.1_Missense_Mutation_p.T464M|SVIL_ENST00000375400.3_Missense_Mutation_p.T1246M			O95425	SVIL_HUMAN	supervillin	1672	Interaction with NEB.				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GAACAAAATCGTCTCATTGTG	0.522													A	29770598	G	A	29770598	3	1	364	1	0	0	0	0	1	0	0	0	15517	1145	40	1	1673	1	SVIL	10	29770598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171536	29770598	105764149	7786	31288											
SVIL	6840	broad.mit.edu	37	chr10	29801769	29801769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctccaatcttcctccccGcttttcttcaacagtgccaa	7	15	3	16	1	4	0	1	0	3	0	7	0	6	0	5	0	2	1	5	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29801769G>A	ENST00000375398.2	-	19	3860	c.3411C>T	c.(3409-3411)agC>agT	p.S1137S	SVIL_ENST00000535393.1_Silent_p.S35S|SVIL_ENST00000355867.4_Silent_p.S1137S|SVIL_ENST00000375400.3_Silent_p.S711S			O95425	SVIL_HUMAN	supervillin	1137					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTTCCTCCCCGCTTTTCTTCA	0.552											OREG0020097	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	29801769	G	A	29801769	2	1	364	1	0	0	0	0	0	0	0	1	15517	1078	38	1		1	SVIL	10	29801769	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31171	29801769	105732978	7787	31289											
SVIL	6840	broad.mit.edu	37	chr10	29811375	29811375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttttgctgggtgagtcaAgaaggccctcccctgtcggc	5	11	14	11	1	1	2	1	1	0	1	3	2	2	2	3	4	1	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29811375A>G	ENST00000375398.2	-	18	3802	c.3353T>C	c.(3352-3354)cTt>cCt	p.L1118P	SVIL_ENST00000535393.1_Missense_Mutation_p.L16P|SVIL_ENST00000355867.4_Missense_Mutation_p.L1118P|SVIL_ENST00000375400.3_Missense_Mutation_p.L692P			O95425	SVIL_HUMAN	supervillin	1118					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGTGAGTCAAGAAGGCCCTC	0.488													G	29811375	A	G	29811375	3	3	364	1	0	0	0	0	1	0	0	0	15517	72	3	3	3383	3	SVIL	10	29811375	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9606	29811375	105723372	7788	31290											
SVIL	6840	broad.mit.edu	37	chr10	29818634	29818634	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcctgtgggcacttacGtggctgcgatgaccacctct	7	10	12	12	2	1	1	0	1	1	0	2	3	2	1	3	2	2	2	3	2	2	1	rs146446036	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:29818634G>A	ENST00000375398.2	-	14	2695	c.2246C>T	c.(2245-2247)aCt>aTt	p.T749I	SVIL_ENST00000355867.4_Splice_Site_p.T749I|SVIL_ENST00000375400.3_Splice_Site_p.T355I			O95425	SVIL_HUMAN	supervillin	749					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GGGCACTTACGTGGCTGCGAT	0.493													A	29818634	G	A	29818634	5	1	364	1	0	0	0	0	0	0	1	0	15517	1159	40	1	4506	1	SVIL	10	29818634	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7259	29818634	105716113	7789	31291											
KIAA1462	57608	broad.mit.edu	37	chr10	30316836	30316836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgacctttcaggttacgGgcacttggcctctgtttgtg	4	15	12	10	1	2	1	1	1	1	0	2	1	2	1	2	3	1	3	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30316836G>T	ENST00000375377.1	-	3	2342	c.2241C>A	c.(2239-2241)gcC>gcA	p.A747A		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	747										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						TCAGGTTACGGGCACTTGGCC	0.572													T	30316836	G	T	30316836	2	4	364	1	0	0	0	0	0	0	0	1	8292	1219	43	4		4	KIAA1462	10	30316836	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	498202	30316836	105217911	7790	31292											
KIAA1462	57608	broad.mit.edu	37	chr10	30317929	30317929	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgaaggaggctgaccgCtggccccagccttctcggtc	5	7	14	15	2	1	2	0	2	1	0	3	3	1	3	5	5	1	2	5	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30317929C>A	ENST00000375377.1	-	3	1249	c.1148G>T	c.(1147-1149)aGc>aTc	p.S383I		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	383	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AGGCTGACCGCTGGCCCCAGC	0.627													A	30317929	C	A	30317929	3	1	364	1	0	0	0	0	1	0	0	0	8292	797	28	4	2939	4	KIAA1462	10	30317929	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1093	30317929	105216818	7791	31293											
MTPAP	55149	broad.mit.edu	37	chr10	30611540	30611540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagttcggaacttgtcaaGgcaatccttcaaaaaataaa	17	9	8	7	1	2	0	2	0	0	0	4	2	3	2	1	3	1	2	1	3	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30611540G>T	ENST00000358107.4	-	7	1388	c.1389C>A	c.(1387-1389)gcC>gcA	p.A463A	MTPAP_ENST00000263063.4_Silent_p.A333A|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	333	PAP-associated.				cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						AACTTGTCAAGGCAATCCTTC	0.373													T	30611540	G	T	30611540	2	4	364	1	0	0	0	0	0	0	0	1	10032	987	35	4		4	MTPAP	10	30611540	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293611	30611540	104923207	7792	31294											
MAP3K8	1326	broad.mit.edu	37	chr10	30739353	30739353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactggagagctgtggacCaatgagagaatttgaaatta	16	9	12	4	0	0	4	0	2	0	2	0	8	0	5	1	2	2	1	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30739353C>T	ENST00000263056.1	+	5	1367	c.671C>T	c.(670-672)cCa>cTa	p.P224L	MAP3K8_ENST00000375321.1_Missense_Mutation_p.P224L|MAP3K8_ENST00000542547.1_Missense_Mutation_p.P224L	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	224	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				AGCTGTGGACCAATGAGAGAA	0.448													T	30739353	C	T	30739353	3	4	364	1	0	0	0	0	1	0	0	0	9331	594	21	2	681	2	MAP3K8	10	30739353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127813	30739353	104795394	7793	31295											
MAP3K8	1326	broad.mit.edu	37	chr10	30747036	30747036	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacatgagcccagaggtcatCctgtgcaggggccattcaac	10	8	11	12	0	2	2	2	1	0	1	3	2	3	2	3	3	4	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:30747036C>T	ENST00000263056.1	+	7	1593	c.897C>T	c.(895-897)atC>atT	p.I299I	MAP3K8_ENST00000375321.1_Silent_p.I299I|MAP3K8_ENST00000542547.1_Silent_p.I299I	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	299	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CAGAGGTCATCCTGTGCAGGG	0.537													T	30747036	C	T	30747036	2	4	364	1	0	0	0	0	0	0	0	1	9331	845	30	2		2	MAP3K8	10	30747036	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7683	30747036	104787711	7794	31296											
ZNF438	220929	broad.mit.edu	37	chr10	31137485	31137485	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatgatccctccatgcctcGcacactcatgtctctgttct	7	13	5	16	1	3	1	1	1	2	0	7	1	5	1	3	0	1	2	3	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31137485G>A	ENST00000452305.1	-	8	2382	c.1819C>T	c.(1819-1821)Cga>Tga	p.R607*	ZNF438_ENST00000361310.3_Nonsense_Mutation_p.R617*|ZNF438_ENST00000436087.2_Nonsense_Mutation_p.R617*|ZNF438_ENST00000444692.2_Nonsense_Mutation_p.R607*|ZNF438_ENST00000538351.2_Nonsense_Mutation_p.R568*|ZNF438_ENST00000413025.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000442986.1_Nonsense_Mutation_p.R617*|ZNF438_ENST00000331737.6_Nonsense_Mutation_p.R607*|ZNF438_ENST00000375311.1_Nonsense_Mutation_p.R181*	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TCCATGCCTCGCACACTCATG	0.498													A	31137485	G	A	31137485	4	1	364	1	0	0	0	0	0	1	0	0	18011	1095	38	1	645	1	ZNF438	10	31137485	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	390449	31137485	104397262	7795	31297											
ZEB1	6935	broad.mit.edu	37	chr10	31791292	31791292	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagtaaaagatgatgaatgCgagtcagatgcagaaaatga	18	9	11	3	1	1	6	1	3	0	3	1	7	1	6	0	0	2	2	0	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:31791292C>T	ENST00000446923.2	+	4	679	c.288C>T	c.(286-288)tgC>tgT	p.C96C	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000320985.10_Silent_p.C112C|ZEB1_ENST00000560721.2_Silent_p.C92C|ZEB1_ENST00000361642.5_Silent_p.C113C|ZEB1_ENST00000542815.3_Silent_p.C45C	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	112					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	p.C112C(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGATGAATGCGAGTCAGATG	0.338													T	31791292	C	T	31791292	2	4	364	1	0	0	0	0	0	0	0	1	17724	776	27	1		1	ZEB1	10	31791292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	653807	31791292	103743455	7796	31298											
ARHGAP12	94134	broad.mit.edu	37	chr10	32197261	32197261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaatgaccaaatgagcGtgtcctattctggctggaaa	13	9	12	7	1	1	2	0	2	1	0	2	4	2	4	2	3	1	1	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32197261G>A	ENST00000375250.5	-	3	764	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	ARHGAP12_ENST00000311380.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000344936.2_Missense_Mutation_p.R175C|ARHGAP12_ENST00000375245.4_Missense_Mutation_p.R175C|ARHGAP12_ENST00000396144.4_Missense_Mutation_p.R175C	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	175					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R175C(1)		NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCAAATGAGCGTGTCCTATTC	0.453													A	32197261	G	A	32197261	3	1	364	1	0	0	0	0	1	0	0	0	868	1145	40	1	2089	1	ARHGAP12	10	32197261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405969	32197261	103337486	7797	31299											
KIF5B	3799	broad.mit.edu	37	chr10	32306236	32306236	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctgtagctcgaagtcGcttttccaacttaggaagtt	9	13	9	10	2	1	0	1	0	0	0	4	2	2	1	1	1	3	5	1	1	5	5	rs150818260		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:32306236G>A	ENST00000302418.4	-	24	3053	c.2596C>T	c.(2596-2598)Cga>Tga	p.R866*	KIF5B_ENST00000493889.1_5'UTR	NM_004521.2	NP_004512.1	P33176	KINH_HUMAN	kinesin family member 5B	866					stress granule disassembly|vesicle transport along microtubule	kinesin complex|microtubule|perinuclear region of cytoplasm|vesicle	ATP binding|microtubule binding|microtubule motor activity		KIF5B/ALK(8)|KIF5B/RET(79)	NS(2)|breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)	35		Prostate(175;0.0137)				GCTCGAAGTCGCTTTTCCAAC	0.418			T	"RET, ALK"	NSCLC								A	32306236	G	A	32306236	4	1	364	1	0	0	0	0	0	1	0	0	8364	1095	38	1	303	1	KIF5B	10	32306236	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108975	32306236	103228511	7798	31300											
C10orf68	79741	broad.mit.edu	37	chr10	33134814	33134814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcaatagagactgataaGgaattcttggcagatgctat	14	13	9	5	0	2	3	1	1	1	2	2	5	2	4	0	2	1	2	0	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33134814G>T	ENST00000375030.2	+	17	1755	c.1137G>T	c.(1135-1137)aaG>aaT	p.K379N	C10orf68_ENST00000375028.3_Missense_Mutation_p.K424N|C10orf68_ENST00000375025.4_Missense_Mutation_p.K484N			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	420										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AGACTGATAAGGAATTCTTGG	0.348													T	33134814	G	T	33134814	3	4	364	1	0	0	0	0	1	0	0	0	1624	991	35	4	1314	4	C10orf68	10	33134814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	828578	33134814	102399933	7799	31301											
C10orf68	79741	broad.mit.edu	37	chr10	33135326	33135326	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgataaagaactcttaaaAgatgctattggaagagatat	18	11	8	4	0	1	4	0	1	1	3	1	6	1	5	0	1	2	1	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33135326A>G	ENST00000375030.2	+	18	1851	c.1233A>G	c.(1231-1233)aaA>aaG	p.K411K	C10orf68_ENST00000375028.3_Silent_p.K456K|C10orf68_ENST00000375025.4_Silent_p.K516K			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	452										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AACTCTTAAAAGATGCTATTG	0.294													G	33135326	A	G	33135326	2	3	364	1	0	0	0	0	0	0	0	1	1624	69	3	3		3	C10orf68	10	33135326	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	512	33135326	102399421	7800	31302											
C10orf68	79741	broad.mit.edu	37	chr10	33137576	33137576	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaacgtcaagaaggtatCtttactaggagcattacacc	14	10	8	9	1	2	1	1	0	1	1	2	2	2	2	1	2	5	3	1	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33137576C>A	ENST00000375030.2	+	20	2049	c.1431C>A	c.(1429-1431)atC>atA	p.I477I	C10orf68_ENST00000375028.3_Silent_p.I522I|C10orf68_ENST00000375025.4_Silent_p.I582I			Q9H943	CJ068_HUMAN	chromosome 10 open reading frame 68	518										breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(4)	29						AAGAAGGTATCTTTACTAGGA	0.279													A	33137576	C	A	33137576	2	1	364	1	0	0	0	0	0	0	0	1	1624	903	32	4		4	C10orf68	10	33137576	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2250	33137576	102397171	7801	31303											
ITGB1	3688	broad.mit.edu	37	chr10	33199304	33199304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcccgactttctaccttggTaatgttaaaataggaacatt	12	14	7	8	1	1	0	0	0	1	0	2	2	2	1	2	2	2	2	2	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33199304T>C	ENST00000396033.2	-	14	2146	c.2011A>G	c.(2011-2013)Acc>Gcc	p.T671A	ITGB1_ENST00000302278.3_Missense_Mutation_p.T671A|ITGB1_ENST00000374956.4_Missense_Mutation_p.T671A|ITGB1_ENST00000423113.1_Missense_Mutation_p.T671A	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	671					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				TCTACCTTGGTAATGTTAAAA	0.408													C	33199304	T	C	33199304	3	2	364	1	0	0	0	0	1	0	0	0	7948	1638	57	3	635	3	ITGB1	10	33199304	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61728	33199304	102335443	7802	31304											
ITGB1	3688	broad.mit.edu	37	chr10	33200467	33200467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacttacagacaccacactCgcagatgccccggccattgc	11	6	7	17	2	0	2	0	0	0	2	1	2	0	2	4	1	3	1	4	1	1	2	rs140200196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33200467C>T	ENST00000396033.2	-	13	1975	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	ITGB1_ENST00000302278.3_Missense_Mutation_p.E614K|ITGB1_ENST00000374956.4_Missense_Mutation_p.E614K|ITGB1_ENST00000423113.1_Missense_Mutation_p.E614K	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	614	Cysteine-rich tandem repeats.				axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				ACACCACACTCGCAGATGCCC	0.498													T	33200467	C	T	33200467	3	4	364	1	0	0	0	0	1	0	0	0	7948	893	31	1	810	1	ITGB1	10	33200467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1163	33200467	102334280	7803	31305											
ITGB1	3688	broad.mit.edu	37	chr10	33218771	33218771	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatcttaatcgcaaaaccaActgctgtggttggatctgag	11	12	10	8	1	2	2	0	2	2	0	3	3	2	3	1	2	3	3	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33218771A>G	ENST00000396033.2	-	4	490	c.355T>C	c.(355-357)Ttg>Ctg	p.L119L	ITGB1_ENST00000484088.1_5'UTR|ITGB1_ENST00000302278.3_Silent_p.L119L|ITGB1_ENST00000374956.4_Silent_p.L119L|ITGB1_ENST00000423113.1_Silent_p.L119L	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	119					axon guidance|blood coagulation|cell-cell adhesion mediated by integrin|cell-matrix adhesion|cellular defense response|homophilic cell adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|leukocyte migration|positive regulation of apoptosis|regulation of immune response	cell surface|cleavage furrow|focal adhesion|melanosome|neuromuscular junction|ruffle|sarcolemma	identical protein binding|protein heterodimerization activity|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)				CGCAAAACCAACTGCTGTGGT	0.423													G	33218771	A	G	33218771	2	3	364	1	0	0	0	0	0	0	0	1	7948	40	2	3		3	ITGB1	10	33218771	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18304	33218771	102315976	7804	31306											
NRP1	8829	broad.mit.edu	37	chr10	33469177	33469177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccccaggaggacccccaGggcactcatggctatgatgg	9	5	13	14	0	1	1	1	1	0	0	1	3	1	3	4	5	1	2	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33469177G>T	ENST00000265371.4	-	18	3124	c.2599C>A	c.(2599-2601)Ctg>Atg	p.L867M	NRP1_ENST00000374867.2_Missense_Mutation_p.L867M|NRP1_ENST00000395995.1_Missense_Mutation_p.L850M|NRP1_ENST00000374875.1_Missense_Mutation_p.L679M			O14786	NRP1_HUMAN	neuropilin 1	867					axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	AGGACCCCCAGGGCACTCATG	0.527													T	33469177	G	T	33469177	3	4	364	1	0	0	0	0	1	0	0	0	10736	991	35	4	176	4	NRP1	10	33469177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	250406	33469177	102065570	7805	31307											
NRP1	8829	broad.mit.edu	37	chr10	33475278	33475278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagtttgaccctgagtgtgCcgacgtgggacccagacatg	8	8	14	11	2	0	3	0	2	0	1	0	5	0	4	3	1	1	2	3	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33475278C>A	ENST00000265371.4	-	15	2726	c.2201G>T	c.(2200-2202)gGc>gTc	p.G734V	NRP1_ENST00000374867.2_Missense_Mutation_p.G734V|NRP1_ENST00000395995.1_Missense_Mutation_p.G734V|NRP1_ENST00000374875.1_Missense_Mutation_p.G546V			O14786	NRP1_HUMAN	neuropilin 1	734	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTGAGTGTGCCGACGTGGGA	0.572													A	33475278	C	A	33475278	3	1	364	1	0	0	0	0	1	0	0	0	10736	739	26	4	586	4	NRP1	10	33475278	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6101	33475278	102059469	7806	31308											
NRP1	8829	broad.mit.edu	37	chr10	33481304	33481304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcagaaggtcttgtgaGagccccagccaaattcacag	12	7	12	10	0	2	2	1	1	1	2	2	3	2	2	3	2	2	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:33481304G>T	ENST00000265371.4	-	14	2492	c.1967C>A	c.(1966-1968)tCt>tAt	p.S656Y	NRP1_ENST00000374867.2_Missense_Mutation_p.S656Y|NRP1_ENST00000395995.1_Missense_Mutation_p.S656Y|NRP1_ENST00000374875.1_Missense_Mutation_p.S468Y			O14786	NRP1_HUMAN	neuropilin 1	656	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	GGTCTTGTGAGAGCCCCAGCC	0.453													T	33481304	G	T	33481304	3	4	364	1	0	0	0	0	1	0	0	0	10736	942	33	4	824	4	NRP1	10	33481304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6026	33481304	102053443	7807	31309											
PARD3	56288	broad.mit.edu	37	chr10	34666916	34666916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctataagtctgtctcctgcCttaagtcggccatcctgaat	8	14	7	12	1	3	1	0	1	3	0	6	1	4	1	4	1	1	0	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34666916C>A	ENST00000374789.3	-	10	1843	c.1518G>T	c.(1516-1518)aaG>aaT	p.K506N	PARD3_ENST00000374790.3_Missense_Mutation_p.K462N|PARD3_ENST00000350537.4_Missense_Mutation_p.K506N|PARD3_ENST00000374788.3_Missense_Mutation_p.K506N|PARD3_ENST00000374773.1_Missense_Mutation_p.K506N|PARD3_ENST00000374794.3_Missense_Mutation_p.K462N|PARD3_ENST00000545260.1_Missense_Mutation_p.K462N|PARD3_ENST00000346874.4_Missense_Mutation_p.K506N|PARD3_ENST00000340077.5_Missense_Mutation_p.K506N|PARD3_ENST00000544292.1_Missense_Mutation_p.K236N|PARD3_ENST00000545693.1_Missense_Mutation_p.K506N|PARD3_ENST00000374776.1_Missense_Mutation_p.K506N	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	506	PDZ 2.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TGTCTCCTGCCTTAAGTCGGC	0.468													A	34666916	C	A	34666916	3	1	364	1	0	0	0	0	1	0	0	0	11519	680	24	4	2651	4	PARD3	10	34666916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1185612	34666916	100867831	7808	31310											
PARD3	56288	broad.mit.edu	37	chr10	34688290	34688290	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcactgaaaggcactacgtgGattcccagaggccctccatc	10	7	10	14	1	0	2	0	1	0	1	3	3	2	3	3	3	1	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:34688290G>A	ENST00000374789.3	-	7	1183	c.858C>T	c.(856-858)atC>atT	p.I286I	PARD3_ENST00000374790.3_Silent_p.I242I|PARD3_ENST00000350537.4_Silent_p.I286I|PARD3_ENST00000374788.3_Silent_p.I286I|PARD3_ENST00000374773.1_Silent_p.I286I|PARD3_ENST00000374794.3_Silent_p.I242I|PARD3_ENST00000545260.1_Silent_p.I242I|PARD3_ENST00000346874.4_Silent_p.I286I|PARD3_ENST00000340077.5_Silent_p.I286I|PARD3_ENST00000544292.1_Silent_p.I16I|PARD3_ENST00000545693.1_Silent_p.I286I|PARD3_ENST00000374776.1_Silent_p.I286I	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	286	PDZ 1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				GCACTACGTGGATTCCCAGAG	0.433													A	34688290	G	A	34688290	2	1	364	1	0	0	0	0	0	0	0	1	11519	1164	41	2		2	PARD3	10	34688290	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21374	34688290	100846457	7809	31311											
CUL2	8453	broad.mit.edu	37	chr10	35324208	35324208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacagcacggagtaagacGtacatatttgccatgtctga	13	9	10	9	2	1	2	0	1	1	1	1	4	1	3	1	1	3	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35324208G>A	ENST00000374748.1	-	11	1207	c.894C>T	c.(892-894)taC>taT	p.Y298Y	CUL2_ENST00000602371.1_Silent_p.Y241Y|CUL2_ENST00000374742.1_Silent_p.Y298Y|CUL2_ENST00000374746.1_Silent_p.Y298Y|CUL2_ENST00000537177.1_Silent_p.Y317Y|CUL2_ENST00000374749.3_Silent_p.Y298Y|CUL2_ENST00000374751.3_Silent_p.Y298Y			Q13617	CUL2_HUMAN	cullin 2	298					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						GGAGTAAGACGTACATATTTG	0.428													A	35324208	G	A	35324208	2	1	364	1	0	0	0	0	0	0	0	1	4088	1140	40	1		1	CUL2	10	35324208	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	635918	35324208	100210539	7810	31312											
CUL2	8453	broad.mit.edu	37	chr10	35327937	35327937	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcgttgttgacattcatgaAtcaccttagtatatgaactt	11	17	6	7	1	2	3	2	3	0	0	3	3	2	3	1	0	1	3	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35327937A>C	ENST00000374748.1	-	10	1101	c.788T>G	c.(787-789)aTt>aGt	p.I263S	CUL2_ENST00000602371.1_Missense_Mutation_p.I206S|CUL2_ENST00000374742.1_Missense_Mutation_p.I263S|CUL2_ENST00000374746.1_Missense_Mutation_p.I263S|CUL2_ENST00000537177.1_Missense_Mutation_p.I282S|CUL2_ENST00000374749.3_Missense_Mutation_p.I263S|CUL2_ENST00000374751.3_Missense_Mutation_p.I263S			Q13617	CUL2_HUMAN	cullin 2	263					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						ACATTCATGAATCACCTTAGT	0.318													C	35327937	A	C	35327937	3	2	364	1	0	0	0	0	1	0	0	0	4088	101	4	5	1501	5	CUL2	10	35327937	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3729	35327937	100206810	7811	31313											
CUL2	8453	broad.mit.edu	37	chr10	35333549	35333549	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaatttgaagcttcttgtTtgtaatactctcctgtttca	10	19	5	7	0	3	1	1	1	2	0	4	1	3	1	1	0	2	4	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35333549T>G	ENST00000374748.1	-	9	972	c.659A>C	c.(658-660)aAa>aCa	p.K220T	CUL2_ENST00000602371.1_Missense_Mutation_p.K163T|CUL2_ENST00000374742.1_Missense_Mutation_p.K220T|CUL2_ENST00000374746.1_Missense_Mutation_p.K220T|CUL2_ENST00000537177.1_Missense_Mutation_p.K239T|CUL2_ENST00000374749.3_Missense_Mutation_p.K220T|CUL2_ENST00000374751.3_Missense_Mutation_p.K220T			Q13617	CUL2_HUMAN	cullin 2	220					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AGCTTCTTGTTTGTAATACTC	0.284													G	35333549	T	G	35333549	3	3	364	1	0	0	0	0	1	0	0	0	4088	1841	64	5	1634	5	CUL2	10	35333549	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5612	35333549	100201198	7812	31314											
CUL2	8453	broad.mit.edu	37	chr10	35351961	35351961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttctccaaggggttcaGgataggccacacataaagca	12	9	10	10	0	3	0	1	0	2	0	4	1	3	1	2	4	1	2	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35351961G>T	ENST00000374748.1	-	4	462	c.149C>A	c.(148-150)cCt>cAt	p.P50H	CUL2_ENST00000602371.1_Missense_Mutation_p.L8M|CUL2_ENST00000374742.1_Missense_Mutation_p.P50H|CUL2_ENST00000374746.1_Missense_Mutation_p.P50H|CUL2_ENST00000537177.1_Missense_Mutation_p.P69H|CUL2_ENST00000374749.3_Missense_Mutation_p.P50H|CUL2_ENST00000374751.3_Missense_Mutation_p.P50H			Q13617	CUL2_HUMAN	cullin 2	50					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						AAGGGGTTCAGGATAGGCCAC	0.303													T	35351961	G	T	35351961	3	4	364	1	0	0	0	0	1	0	0	0	4088	1000	35	4	2164	4	CUL2	10	35351961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18412	35351961	100182786	7813	31315											
CCNY	219771	broad.mit.edu	37	chr10	35819081	35819081	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgccaccagattatgacaaAcacaacccagagcagaagca	17	4	8	12	0	0	4	0	1	0	3	0	4	0	4	3	0	5	2	3	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35819081A>G	ENST00000374704.4	+	7	669	c.489A>G	c.(487-489)aaA>aaG	p.K163K	CCNY_ENST00000265375.9_Silent_p.K109K|CCNY_ENST00000492478.1_3'UTR|CCNY_ENST00000339497.5_Silent_p.K138K|CCNY_ENST00000374706.1_Silent_p.K109K	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	163	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						ATTATGACAAACACAACCCAG	0.468													G	35819081	A	G	35819081	2	3	364	1	0	0	0	0	0	0	0	1	2966	40	2	3		3	CCNY	10	35819081	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	467120	35819081	99715666	7814	31316											
GJD4	219770	broad.mit.edu	37	chr10	35896773	35896773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctgggcccccgccgctGccccgacccccgggagccgg	2	2	15	22	7	0	0	0	0	0	0	0	2	0	1	8	3	2	2	8	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35896773G>A	ENST00000321660.1	+	2	490	c.332G>A	c.(331-333)tGc>tAc	p.C111Y	RP11-425A6.5_ENST00000609313.1_RNA	NM_153368.2	NP_699199.2	Q96KN9	CXD4_HUMAN	gap junction protein, delta 4, 40.1kDa	111					cell communication	connexon complex|integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						CCCCGCCGCTGCCCCGACCCC	0.746													A	35896773	G	A	35896773	3	1	364	1	0	0	0	0	1	0	0	0	6475	1319	46	2	338	2	GJD4	10	35896773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77692	35896773	99637974	7815	31317											
FZD8	8325	broad.mit.edu	37	chr10	35929971	35929971	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcagcgcatgcggtcgggCcaggcgaagccgtactggcg	6	5	17	13	7	0	0	0	0	0	0	2	1	0	0	2	4	4	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:35929971C>T	ENST00000374694.1	-	1	391	c.387G>A	c.(385-387)tgG>tgA	p.W129*		NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled family receptor 8	129	FZ.				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						TGCGGTCGGGCCAGGCGAAGC	0.711													T	35929971	C	T	35929971	4	4	364	1	0	0	0	0	0	1	0	0	6188	740	26	2	1701	2	FZD8	10	35929971	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33198	35929971	99604776	7816	31318											
ZNF25	219749	broad.mit.edu	37	chr10	38241496	38241496	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacattcatagggtttctcTcctgtgtgacttctctgatg	6	18	8	9	0	3	2	1	2	2	0	6	2	4	2	1	1	1	1	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38241496T>C	ENST00000302609.7	-	6	1142	c.930A>G	c.(928-930)ggA>ggG	p.G310G	ZNF25_ENST00000374633.1_5'UTR	NM_145011.2	NP_659448.1	P17030	ZNF25_HUMAN	zinc finger protein 25	310					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_neural(218;0.0218)|Breast(68;0.0389)|Ovarian(717;0.0443)|Renal(717;0.157)				AGGGTTTCTCTCCTGTGTGAC	0.433													C	38241496	T	C	38241496	2	2	364	1	0	0	0	0	0	0	0	1	17895	1538	54	3		3	ZNF25	10	38241496	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2311525	38241496	97293251	7817	31319											
ZNF33A	7581	broad.mit.edu	37	chr10	38306250	38306250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaaccagaggtgatcttCaggctgcaacaaggagaaga	16	5	11	9	0	2	4	1	1	1	3	2	5	2	4	1	3	3	2	1	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38306250C>A	ENST00000374618.3	+	4	364	c.186C>A	c.(184-186)ttC>ttA	p.F62L	ZNF33A_ENST00000307441.9_Missense_Mutation_p.F62L|ZNF33A_ENST00000476504.1_3'UTR|ZNF33A_ENST00000458705.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000469037.2_Missense_Mutation_p.F62L|ZNF33A_ENST00000432900.2_Missense_Mutation_p.F69L	NM_001278170.1|NM_001278171.1|NM_001278173.1|NM_001278174.1|NM_001278175.1|NM_001278176.1|NM_001278177.1|NM_001278178.1|NM_001278179.1|NM_006954.1|NM_006974.2	NP_001265099.1|NP_001265100.1|NP_001265102.1|NP_001265103.1|NP_001265104.1|NP_001265105.1|NP_001265106.1|NP_001265107.1|NP_001265108.1|NP_008885.1|NP_008905.1	Q06730	ZN33A_HUMAN	zinc finger protein 33A	62	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						AGGTGATCTTCAGGCTGCAAC	0.443													A	38306250	C	A	38306250	3	1	364	1	0	0	0	0	1	0	0	0	17955	825	29	4	196	4	ZNF33A	10	38306250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64754	38306250	97228497	7818	31320											
ZNF37A	7587	broad.mit.edu	37	chr10	38406524	38406524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaacaatcttttgaatacAatgaatgtgggaaagctttc	14	12	10	5	0	1	2	0	2	1	0	2	4	1	4	0	2	3	1	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406524A>G	ENST00000361085.5	+	7	790	c.445A>G	c.(445-447)Aat>Gat	p.N149D	ZNF37A_ENST00000351773.3_Missense_Mutation_p.N149D	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						TTTTGAATACAATGAATGTGG	0.368													G	38406524	A	G	38406524	3	3	364	1	0	0	0	0	1	0	0	0	17973	130	5	3	459	3	ZNF37A	10	38406524	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	100274	38406524	97128223	7819	31321											
ZNF37A	7587	broad.mit.edu	37	chr10	38406660	38406660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcactcatcagcaaaCacatccaagagaaaaccact	17	8	3	13	0	4	1	4	0	0	1	5	2	5	1	2	0	3	1	2	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:38406660C>T	ENST00000361085.5	+	7	926	c.581C>T	c.(580-582)aCa>aTa	p.T194I	ZNF37A_ENST00000351773.3_Missense_Mutation_p.T194I	NM_001178101.1|NM_003421.2	NP_001171572.1|NP_003412.1	P17032	ZN37A_HUMAN	zinc finger protein 37A							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|prostate(1)	28						CATCAGCAAACACATCCAAGA	0.383													T	38406660	C	T	38406660	3	4	364	1	0	0	0	0	1	0	0	0	17973	478	17	2	595	2	ZNF37A	10	38406660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136	38406660	97128087	7820	31322											
RET	5979	broad.mit.edu	37	chr10	43606695	43606695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaactgccaggcattcagtgGcatcaacgtccagtacaagc	13	7	9	12	1	2	0	2	0	0	0	3	0	3	0	2	2	5	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43606695G>A	ENST00000355710.3	+	7	1536	c.1304G>A	c.(1303-1305)gGc>gAc	p.G435D	RET_ENST00000340058.5_Missense_Mutation_p.G435D	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	435					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GCATTCAGTGGCATCAACGTC	0.582		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				A	43606695	G	A	43606695	3	1	364	1	0	0	0	0	1	0	0	0	13323	1203	42	2	1330	2	RET	10	43606695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5200035	43606695	91928052	7821	31323											
RET	5979	broad.mit.edu	37	chr10	43615023	43615023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgccaaatacggctccctgCggggcttcctccgcgagagc	7	6	12	16	5	0	1	0	0	0	1	3	2	3	1	4	3	3	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43615023C>T	ENST00000355710.3	+	14	2669	c.2437C>T	c.(2437-2439)Cgg>Tgg	p.R813W	RET_ENST00000340058.5_Missense_Mutation_p.R813W	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	813	Protein kinase.		R -> Q (in HSCR1; sporadic form).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGGCTCCCTGCGGGGCTTCCT	0.701		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				T	43615023	C	T	43615023	3	4	364	1	0	0	0	0	1	0	0	0	13323	759	27	1	2491	1	RET	10	43615023	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8328	43615023	91919724	7822	31324											
CSGALNACT2	55454	broad.mit.edu	37	chr10	43655966	43655966	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgtattcatcaagacaaGaagattcatctcacagtggt	13	13	8	7	0	4	3	4	0	1	3	5	3	4	3	0	1	0	2	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:43655966G>A	ENST00000374466.3	+	4	1238	c.903G>A	c.(901-903)aaG>aaA	p.K301K	CSGALNACT2_ENST00000374464.1_Silent_p.K301K	NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	301					chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process	Golgi cisterna membrane|integral to Golgi membrane	glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						ATCAAGACAAGAAGATTCATC	0.373													A	43655966	G	A	43655966	2	1	364	1	0	0	0	0	0	0	0	1	3972	933	33	2		2	CSGALNACT2	10	43655966	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40943	43655966	91878781	7823	31325											
ZNF32	7580	broad.mit.edu	37	chr10	44139911	44139911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actgaagcttttcccacactCcttgcactgataaggcttct	9	13	6	13	0	1	2	0	2	1	0	3	2	3	2	2	1	2	3	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:44139911C>T	ENST00000395797.1	-	3	597	c.409G>A	c.(409-411)Gag>Aag	p.E137K	ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA|ZNF32_ENST00000374433.2_Missense_Mutation_p.E137K	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		TTCCCACACTCCTTGCACTGA	0.498													T	44139911	C	T	44139911	3	4	364	1	0	0	0	0	1	0	0	0	17939	864	30	2	416	2	ZNF32	10	44139911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	483945	44139911	91394836	7824	31326											
C10orf10	11067	broad.mit.edu	37	chr10	45473040	45473040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagagcctccctctgggggCccccatgggcttgctgctgt	4	9	13	15	0	1	1	0	0	1	1	2	1	2	1	4	3	3	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45473040C>A	ENST00000298295.3	-	2	656	c.439G>T	c.(439-441)Gcc>Tcc	p.A147S	C10orf10_ENST00000496638.1_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000334940.6_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	147						mitochondrion				lung(1)	1						CCTCTGGGGGCCCCCATGGGC	0.622													A	45473040	C	A	45473040	3	1	364	1	0	0	0	0	1	0	0	0	1590	739	26	4	203	4	C10orf10	10	45473040	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1333129	45473040	90061707	7825	31327											
ALOX5	240	broad.mit.edu	37	chr10	45878107	45878107	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggatcaccggcgatgtcgaGgttgtcctgagggatggacg	7	9	17	8	4	1	1	1	1	0	0	3	6	2	4	2	5	0	1	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45878107G>A	ENST00000374391.2	+	2	380	c.327G>A	c.(325-327)gaG>gaA	p.E109E	ALOX5_ENST00000542434.1_Silent_p.E109E	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	109	PLAT.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	GCGATGTCGAGGTTGTCCTGA	0.587													A	45878107	G	A	45878107	2	1	364	1	0	0	0	0	0	0	0	1	540	991	35	2		2	ALOX5	10	45878107	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405067	45878107	89656640	7826	31328											
MARCH8	220972	broad.mit.edu	37	chr10	45956831	45956831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggggtgatcagggggcTctcatcatctccttcacagt	7	10	13	11	0	5	1	4	1	2	0	7	1	5	1	1	4	0	2	1	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:45956831T>C	ENST00000453424.2	-	6	1378	c.1117A>G	c.(1117-1119)Agc>Ggc	p.S373G	MARCH8_ENST00000395769.2_Missense_Mutation_p.S91G|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000319836.3_Missense_Mutation_p.S91G|MARCH8_ENST00000395771.3_Missense_Mutation_p.S91G	NM_001282866.1	NP_001269795.1	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	91						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						ATCAGGGGGCTCTCATCATCT	0.582													C	45956831	T	C	45956831	3	2	364	1	0	0	0	0	1	0	0	0	9382	1551	54	3	616	3	MARCH8	10	45956831	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	78724	45956831	89577916	7827	31329											
FAM21C	253725	broad.mit.edu	37	chr10	46224421	46224421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccacagattgtcgcctgCataatgtcttcaatgacttc	11	12	7	11	1	2	2	1	1	1	1	4	2	2	2	2	0	2	1	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46224421C>T	ENST00000336378.4	+	3	356	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	FAM21C_ENST00000537517.1_Missense_Mutation_p.H80Y|FAM21C_ENST00000374362.2_Missense_Mutation_p.H80Y|FAM21C_ENST00000359860.4_Intron|FAM21C_ENST00000540872.1_Missense_Mutation_p.H80Y	NM_015262.2	NP_056077.2	A8K5W5	A8K5W5_HUMAN	family with sequence similarity 21, member C	80										central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						TTGTCGCCTGCATAATGTCTT	0.388													T	46224421	C	T	46224421	3	4	364	1	0	0	0	0	1	0	0	0	5589	710	25	2	248	2	FAM21C	10	46224421	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	267590	46224421	89310326	7828	31330											
SYT15	83849	broad.mit.edu	37	chr10	46961979	46961979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcgaagggtcagggctcCgtggtgcggcagagcgcatg	6	6	20	9	4	1	1	1	0	0	1	2	2	2	1	1	5	2	3	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46961979C>T	ENST00000374323.4	-	7	2003	c.1416G>A	c.(1414-1416)acG>acA	p.T472T	SYT15_ENST00000374325.3_Intron|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Silent_p.T419T|SYT15_ENST00000503753.1_Intron			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GTCAGGGCTCCGTGGTGCGGC	0.637													T	46961979	C	T	46961979	2	4	364	1	0	0	0	0	0	0	0	1	15568	639	23	1		1	SYT15	10	46961979	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737558	46961979	88572768	7829	31331											
SYT15	83849	broad.mit.edu	37	chr10	46963905	46963905	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatccagctcggtggcatcgGccttgaagctgaaggtctca	8	10	12	11	2	1	2	1	2	1	0	5	2	2	2	2	4	2	3	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46963905G>T	ENST00000374323.4	-	6	1804	c.1217C>A	c.(1216-1218)gCc>gAc	p.A406D	SYT15_ENST00000374325.3_Missense_Mutation_p.A353D|RP11-38L15.3_ENST00000506914.1_RNA|SYT15_ENST00000374321.4_Missense_Mutation_p.A353D|SYT15_ENST00000503753.1_Missense_Mutation_p.A353D			Q9BQS2	SYT15_HUMAN	synaptotagmin XV							integral to membrane|plasma membrane				cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						GGTGGCATCGGCCTTGAAGCT	0.552													T	46963905	G	T	46963905	3	4	364	1	0	0	0	0	1	0	0	0	15568	1203	42	4	269	4	SYT15	10	46963905	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1926	46963905	88570842	7830	31332											
SYT15	83849	broad.mit.edu	37	chr10	46968587	46968587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggacactcaccaaggcCgccgctggaggtgtgaggca	10	4	15	12	2	1	1	1	1	0	0	1	3	1	3	3	5	0	3	3	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46968587C>T	ENST00000374323.4	-	2	1095	c.508G>A	c.(508-510)Ggc>Agc	p.G170S	SYT15_ENST00000374325.3_Missense_Mutation_p.G117S|SYT15_ENST00000374321.4_Missense_Mutation_p.G117S|SYT15_ENST00000503753.1_Missense_Mutation_p.G117S			Q9BQS2	SYT15_HUMAN	synaptotagmin XV		C2 1.					integral to membrane|plasma membrane		p.G117S(2)		cervix(1)|endometrium(5)|kidney(2)|lung(5)	13						TCACCAAGGCCGCCGCTGGAG	0.657													T	46968587	C	T	46968587	3	4	364	1	0	0	0	0	1	0	0	0	15568	652	23	1	994	1	SYT15	10	46968587	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4682	46968587	88566160	7831	31333											
GPRIN2	9721	broad.mit.edu	37	chr10	46999062	46999062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagcaccagaccccaggCcccggaggaagaggggaacc	11	0	15	15	1	0	2	0	0	0	2	0	5	0	5	7	6	2	1	7	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999062C>T	ENST00000374314.4	+	1	1137	c.182C>T	c.(181-183)gCc>gTc	p.A61V	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A61V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	61										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGACCCCAGGCCCCGGAGGAA	0.697													T	46999062	C	T	46999062	3	4	364	1	0	0	0	0	1	0	0	0	6785	739	26	2	184	2	GPRIN2	10	46999062	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30475	46999062	88535685	7832	31334											
GPRIN2	9721	broad.mit.edu	37	chr10	46999131	46999131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctggccccaaggcgcgacCcagtgctggaggccactggt	6	6	14	15	2	1	0	0	0	1	0	1	2	1	1	4	5	1	1	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999131C>A	ENST00000374314.4	+	1	1206	c.251C>A	c.(250-252)cCc>cAc	p.P84H	GPRIN2_ENST00000374317.1_Missense_Mutation_p.P84H			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	84										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AAGGCGCGACCCAGTGCTGGA	0.687													A	46999131	C	A	46999131	3	1	364	1	0	0	0	0	1	0	0	0	6785	623	22	4	253	4	GPRIN2	10	46999131	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69	46999131	88535616	7833	31335											
GPRIN2	9721	broad.mit.edu	37	chr10	46999227	46999227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggcccctagtgctgctgCtatgcagaggagccattcag	7	8	14	12	1	1	1	1	0	0	1	1	2	1	2	3	2	5	4	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:46999227C>T	ENST00000374314.4	+	1	1302	c.347C>T	c.(346-348)gCt>gTt	p.A116V	GPRIN2_ENST00000374317.1_Missense_Mutation_p.A116V			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	116										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						AGTGCTGCTGCTATGCAGAGG	0.647													T	46999227	C	T	46999227	3	4	364	1	0	0	0	0	1	0	0	0	6785	797	28	2	349	2	GPRIN2	10	46999227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96	46999227	88535520	7834	31336											
RBP3	5949	broad.mit.edu	37	chr10	48388602	48388602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccagctgtggccccacgGccttcactgtctccagttca	6	9	9	17	1	3	0	2	0	1	0	4	0	3	0	5	2	1	3	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48388602G>A	ENST00000224600.4	-	1	2389	c.2276C>T	c.(2275-2277)gCc>gTc	p.A759V		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	759	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGCCCCACGGCCTTCACTGT	0.627													A	48388602	G	A	48388602	3	1	364	1	0	0	0	0	1	0	0	0	13245	1203	42	2	1483	2	RBP3	10	48388602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1389375	48388602	87146145	7835	31337											
RBP3	5949	broad.mit.edu	37	chr10	48389680	48389680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggctgcagcgtcgggcgCgggccaagaaggagtttctg	6	8	17	10	5	1	1	0	0	1	1	3	2	1	2	1	4	2	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48389680C>T	ENST00000224600.4	-	1	1311	c.1198G>A	c.(1198-1200)Gcg>Acg	p.A400T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	400	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GCGTCGGGCGCGGGCCAAGAA	0.642													T	48389680	C	T	48389680	3	4	364	1	0	0	0	0	1	0	0	0	13245	768	27	1	2561	1	RBP3	10	48389680	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1078	48389680	87145067	7836	31338											
RBP3	5949	broad.mit.edu	37	chr10	48390151	48390151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgcttaaggatgtgcgCgatgtcctcggccacgcccc	6	9	11	15	4	1	0	0	0	1	0	3	2	2	1	4	2	2	1	4	2	1	1	rs149256669	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48390151C>T	ENST00000224600.4	-	1	840	c.727G>A	c.(727-729)Gcg>Acg	p.A243T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	243	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity	p.A243T(1)		central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	AGGATGTGCGCGATGTCCTCG	0.647													T	48390151	C	T	48390151	3	4	364	1	0	0	0	0	1	0	0	0	13245	768	27	1	3032	1	RBP3	10	48390151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	471	48390151	87144596	7837	31339											
GDF10	2662	broad.mit.edu	37	chr10	48429011	48429011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggcccagtggcctgcGcggctcggcgcacgcggggg	3	3	22	13	6	0	0	0	0	0	0	1	1	0	1	2	8	1	2	2	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:48429011G>A	ENST00000224605.2	-	2	1140	c.875C>T	c.(874-876)gCg>gTg	p.A292V		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	292					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						AGTGGCCTGCGCGGCTCGGCG	0.726													A	48429011	G	A	48429011	3	1	364	1	0	0	0	0	1	0	0	0	6367	1087	38	1	569	1	GDF10	10	48429011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38860	48429011	87105736	7838	31340											
FRMPD2	143162	broad.mit.edu	37	chr10	49420106	49420106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctctcgatcagactcGctgggatgtaatcttcaacg	9	12	8	12	3	5	1	3	0	2	1	8	3	6	2	1	1	1	2	1	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49420106G>A	ENST00000374201.3	-	13	1804	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	FRMPD2_ENST00000305531.3_Missense_Mutation_p.A476V|FRMPD2_ENST00000407470.4_Missense_Mutation_p.A469V	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	501	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GATCAGACTCGCTGGGATGTA	0.547													A	49420106	G	A	49420106	3	1	364	1	0	0	0	0	1	0	0	0	6110	1087	38	1	2495	1	FRMPD2	10	49420106	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	991095	49420106	86114641	7839	31341											
MAPK8	5599	broad.mit.edu	37	chr10	49643001	49643001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgtcttcaatgtcaacaGatccgactttggcctctgat	9	14	8	10	1	4	2	2	1	2	1	5	3	5	2	2	1	1	0	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49643001G>A	ENST00000374189.1	+	12	1394	c.1213G>A	c.(1213-1215)Gat>Aat	p.D405N	MAPK8_ENST00000360332.3_Missense_Mutation_p.D405N|MAPK8_ENST00000459755.1_3'UTR|MAPK8_ENST00000374182.3_3'UTR			P45983	MK08_HUMAN	mitogen-activated protein kinase 8	405					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|induction of apoptosis by intracellular signals|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of apoptosis|negative regulation of protein binding|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of deacetylase activity|regulation of protein localization|regulation of sequence-specific DNA binding transcription factor activity|response to UV|stress-activated MAPK cascade|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|histone deacetylase binding|histone deacetylase regulator activity|JUN kinase activity|protein binding			breast(1)|central_nervous_system(3)|endometrium(4)|kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	34		Ovarian(717;0.0221)|Lung SC(717;0.113)|all_neural(218;0.116)		Epithelial(53;3.46e-65)|Lung(62;0.125)		AATGTCAACAGATCCGACTTT	0.517													A	49643001	G	A	49643001	3	1	364	1	0	0	0	0	1	0	0	0	9358	942	33	2	1336	2	MAPK8	10	49643001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	222895	49643001	85891746	7840	31342											
ARHGAP22	58504	broad.mit.edu	37	chr10	49662148	49662148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttgcagatgtatctgagCaggttgtaatttgcctgagg	9	14	12	6	0	1	3	0	2	1	1	1	3	1	3	1	2	4	5	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:49662148C>T	ENST00000249601.4	-	7	1145	c.849G>A	c.(847-849)ctG>ctA	p.L283L	ARHGAP22_ENST00000435790.2_Silent_p.L289L|ARHGAP22_ENST00000374170.1_Intron|ARHGAP22_ENST00000374172.1_Silent_p.L174L|ARHGAP22_ENST00000417247.2_Silent_p.L193L|ARHGAP22_ENST00000417912.2_Silent_p.L299L	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	283	Rho-GAP.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TGTATCTGAGCAGGTTGTAAT	0.527													T	49662148	C	T	49662148	2	4	364	1	0	0	0	0	0	0	0	1	875	697	25	2		2	ARHGAP22	10	49662148	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19147	49662148	85872599	7841	31343											
LRRC18	474354	broad.mit.edu	37	chr10	50121843	50121843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcgcggatgttcttgaGttgcttcagctccacgggca	7	10	12	12	3	2	1	1	1	1	0	3	2	3	2	1	2	3	5	1	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50121843G>A	ENST00000374160.3	-	1	434	c.358C>T	c.(358-360)Ctc>Ttc	p.L120F	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.L120F	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	120						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						ATGTTCTTGAGTTGCTTCAGC	0.607													A	50121843	G	A	50121843	3	1	364	1	0	0	0	0	1	0	0	0	9044	1029	36	2	435	2	LRRC18	10	50121843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	459695	50121843	85412904	7842	31344											
LRRC18	474354	broad.mit.edu	37	chr10	50122110	50122110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcttgctcaagtcaaggcGctttttcccatcaaaagtga	11	12	7	11	1	4	1	3	1	1	0	5	1	5	1	1	1	1	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50122110G>A	ENST00000374160.3	-	1	167	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|WDFY4_ENST00000325239.5_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R31C	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	31			R -> H (in dbSNP:rs17772611).			cytoplasm		p.R31C(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						AAGTCAAGGCGCTTTTTCCCA	0.478													A	50122110	G	A	50122110	3	1	364	1	0	0	0	0	1	0	0	0	9044	1087	38	1	702	1	LRRC18	10	50122110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267	50122110	85412637	7843	31345											
ERCC6	2074	broad.mit.edu	37	chr10	50667171	50667171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttctagctctcattttaGccaagagtgaggaggaagcg	10	11	13	7	1	2	2	1	1	2	1	3	4	2	4	1	3	3	2	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50667171G>A	ENST00000355832.5	-	21	4250	c.4172C>T	c.(4171-4173)gCt>gTt	p.A1391V	ERCC6_ENST00000542458.1_Missense_Mutation_p.A761V|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1391					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCTCATTTTAGCCAAGAGTGA	0.507								Direct reversal of damage;Nucleotide excision repair (NER)					A	50667171	G	A	50667171	3	1	364	1	0	0	0	0	1	0	0	0	5258	971	34	2	313	2	ERCC6	10	50667171	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	545061	50667171	84867576	7844	31346											
CHAT	1103	broad.mit.edu	37	chr10	50828611	50828611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcctgtcaactccagccctgCcgtgatctttgctcggcagc	5	10	10	16	2	2	1	1	1	1	0	4	1	3	1	4	1	5	2	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50828611C>T	ENST00000395562.2	+	5	873	c.404C>T	c.(403-405)gCc>gTc	p.A135V	CHAT_ENST00000337653.2_Missense_Mutation_p.A217V|CHAT_ENST00000460699.1_3'UTR|CHAT_ENST00000395559.2_Missense_Mutation_p.A99V|CHAT_ENST00000339797.1_Missense_Mutation_p.A99V|CHAT_ENST00000351556.3_Missense_Mutation_p.A99V|CHAT_ENST00000455728.2_Missense_Mutation_p.A99V	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	217					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	TCCAGCCCTGCCGTGATCTTT	0.617													T	50828611	C	T	50828611	3	4	364	1	0	0	0	0	1	0	0	0	3343	739	26	2	708	2	CHAT	10	50828611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161440	50828611	84706136	7845	31347											
CHAT	1103	broad.mit.edu	37	chr10	50860015	50860015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaatgcagccctgatGccttcatccaggtggccctc	9	8	10	14	0	1	2	1	1	0	1	3	2	2	2	4	2	4	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50860015G>A	ENST00000395562.2	+	12	1820	c.1351G>A	c.(1351-1353)Gcc>Acc	p.A451T	CHAT_ENST00000337653.2_Missense_Mutation_p.A533T|CHAT_ENST00000395559.2_Missense_Mutation_p.A415T|CHAT_ENST00000339797.1_Missense_Mutation_p.A415T|CHAT_ENST00000351556.3_Missense_Mutation_p.A415T|CHAT_ENST00000455728.2_Missense_Mutation_p.A415T	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	533					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	CAGCCCTGATGCCTTCATCCA	0.468													A	50860015	G	A	50860015	3	1	364	1	0	0	0	0	1	0	0	0	3343	1319	46	2	1683	2	CHAT	10	50860015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31404	50860015	84674732	7846	31348											
OGDHL	55753	broad.mit.edu	37	chr10	50966452	50966452	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccttgtggacactctgggGgttttccaaccaggcgaagt	8	10	13	10	1	1	0	0	0	1	0	2	3	2	1	3	4	1	1	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:50966452G>T	ENST00000374103.4	-	2	272	c.187C>A	c.(187-189)Ccc>Acc	p.P63T	OGDHL_ENST00000432695.1_Intron|OGDHL_ENST00000419399.1_Missense_Mutation_p.P63T	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	63					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						ACACTCTGGGGGTTTTCCAAC	0.662													T	50966452	G	T	50966452	3	4	364	1	0	0	0	0	1	0	0	0	10916	1232	43	4	2933	4	OGDHL	10	50966452	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106437	50966452	84568295	7847	31349											
NCOA4	8031	broad.mit.edu	37	chr10	51584762	51584762	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctccattgaaatggaaaaGgttggagatcaagagcttcc	13	11	10	7	0	2	3	1	1	1	2	4	5	3	4	2	3	1	2	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51584762G>T	ENST00000452682.1	+	9	1161	c.909G>T	c.(907-909)aaG>aaT	p.K303N	NCOA4_ENST00000344348.6_Missense_Mutation_p.K287N|NCOA4_ENST00000374087.4_Missense_Mutation_p.K287N|NCOA4_ENST00000443446.1_Missense_Mutation_p.K287N|NCOA4_ENST00000438493.1_Missense_Mutation_p.K303N|NCOA4_ENST00000414907.2_Missense_Mutation_p.K121N|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.K187N|NCOA4_ENST00000374082.1_Missense_Mutation_p.K287N	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	287					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						AAATGGAAAAGGTTGGAGATC	0.433			T	RET	papillary thyroid								T	51584762	G	T	51584762	3	4	364	1	0	0	0	0	1	0	0	0	10307	991	35	4	939	4	NCOA4	10	51584762	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	618310	51584762	83949985	7848	31350											
NCOA4	8031	broad.mit.edu	37	chr10	51585345	51585345	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcaatgactccttctagaAttgctgattccttccaagtc	10	13	7	11	0	1	3	0	2	1	1	5	3	4	3	3	1	1	2	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:51585345A>C	ENST00000452682.1	+	9	1744	c.1492A>C	c.(1492-1494)Att>Ctt	p.I498L	NCOA4_ENST00000344348.6_Missense_Mutation_p.I482L|NCOA4_ENST00000374087.4_Missense_Mutation_p.I482L|NCOA4_ENST00000443446.1_Missense_Mutation_p.I482L|NCOA4_ENST00000438493.1_Missense_Mutation_p.I498L|NCOA4_ENST00000414907.2_Missense_Mutation_p.I316L|NCOA4_ENST00000430396.2_Missense_Mutation_p.I382L|NCOA4_ENST00000374082.1_Missense_Mutation_p.I482L	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	482					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						TCCTTCTAGAATTGCTGATTC	0.448			T	RET	papillary thyroid								C	51585345	A	C	51585345	3	2	364	1	0	0	0	0	1	0	0	0	10307	101	4	5	1522	5	NCOA4	10	51585345	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	583	51585345	83949402	7849	31351											
ASAH2	56624	broad.mit.edu	37	chr10	52008258	52008258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcctttgtggttttcaAtggtcccactggtgataaac	8	15	9	9	0	1	1	1	1	0	0	2	1	2	1	2	3	2	1	2	3	3	5	rs114108618	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52008258A>G	ENST00000395526.4	-	1	112	c.113T>C	c.(112-114)aTt>aCt	p.I38T	ASAH2_ENST00000329428.6_Missense_Mutation_p.I19T|ASAH2_ENST00000447815.1_Missense_Mutation_p.I38T	NM_019893.2	NP_063946.2	Q9NR71	ASAH2_HUMAN	N-acylsphingosine amidohydrolase (non-lysosomal ceramidase) 2						apoptosis|ceramide metabolic process|signal transduction	integral to membrane|mitochondrion|plasma membrane	ceramidase activity			large_intestine(1)|lung(9)|urinary_tract(1)	11						GTGGTTTTCAATGGTCCCACT	0.433													G	52008258	A	G	52008258	3	3	364	1	0	0	0	0	1	0	0	0	1012	101	4	3	2309	3	ASAH2	10	52008258	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	422913	52008258	83526489	7850	31352											
A1CF	29974	broad.mit.edu	37	chr10	52566559	52566559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacctcataggttgtatatGctgctaagtcttgtccaagg	10	13	10	8	0	2	1	1	0	1	1	3	1	3	1	2	2	2	4	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52566559G>T	ENST00000374001.2	-	12	1830	c.1691C>A	c.(1690-1692)gCa>gAa	p.A564E	A1CF_ENST00000282641.2_Missense_Mutation_p.A572E|A1CF_ENST00000373995.3_Missense_Mutation_p.A572E|A1CF_ENST00000373997.3_Missense_Mutation_p.A564E|A1CF_ENST00000395495.1_Missense_Mutation_p.A517E|A1CF_ENST00000395489.2_Missense_Mutation_p.A565E|A1CF_ENST00000373993.1_Missense_Mutation_p.A572E|ASAH2B_ENST00000483649.1_Intron			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						GGTTGTATATGCTGCTAAGTC	0.478													T	52566559	G	T	52566559	3	4	364	1	0	0	0	0	1	0	0	0	2	1319	46	4	73	4	A1CF	10	52566559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	558301	52566559	82968188	7851	31353											
A1CF	29974	broad.mit.edu	37	chr10	52601697	52601697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaatgttacaaatgcatatCctctattgttgccattaaaa	16	14	4	7	0	1	0	0	0	1	0	2	0	2	0	2	0	3	3	2	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:52601697C>T	ENST00000374001.2	-	4	429	c.290G>A	c.(289-291)gGa>gAa	p.G97E	A1CF_ENST00000282641.2_Missense_Mutation_p.G97E|A1CF_ENST00000373995.3_Missense_Mutation_p.G105E|A1CF_ENST00000373997.3_Missense_Mutation_p.G97E|A1CF_ENST00000395495.1_Missense_Mutation_p.G97E|A1CF_ENST00000395489.2_Missense_Mutation_p.G90E|A1CF_ENST00000373993.1_Missense_Mutation_p.G97E			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 1.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						AAATGCATATCCTCTATTGTT	0.294													T	52601697	C	T	52601697	3	4	364	1	0	0	0	0	1	0	0	0	2	855	30	2	1530	2	A1CF	10	52601697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35138	52601697	82933050	7852	31354											
PRKG1	5592	broad.mit.edu	37	chr10	54031201	54031201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagacagcaggagcacatccGctcagagaagcagatcatgc	15	4	11	11	1	2	3	2	0	0	3	3	5	3	4	1	1	4	4	1	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54031201G>A	ENST00000373980.4	+	11	1682	c.1265G>A	c.(1264-1266)cGc>cAc	p.R422H	PRKG1-AS1_ENST00000452247.2_RNA|PRKG1_ENST00000401604.2_Missense_Mutation_p.R407H|PRKG1-AS1_ENST00000426785.2_RNA|PRKG1_ENST00000373975.2_Missense_Mutation_p.R125H|PRKG1_ENST00000373985.1_Missense_Mutation_p.R395H	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	407	Protein kinase.				actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		GAGCACATCCGCTCAGAGAAG	0.463													A	54031201	G	A	54031201	3	1	364	1	0	0	0	0	1	0	0	0	12608	1087	38	1	1577	1	PRKG1	10	54031201	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1429504	54031201	81503546	7853	31355											
DKK1	22943	broad.mit.edu	37	chr10	54076370	54076370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcctcaggattgtgttgtGctagacacttctggtccaag	7	13	12	9	0	2	1	1	0	1	1	3	2	3	2	2	2	2	2	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:54076370G>A	ENST00000373970.3	+	4	743	c.604G>A	c.(604-606)Gct>Act	p.A202T		NM_012242.2	NP_036374.1	O94907	DKK1_HUMAN	dickkopf WNT signaling pathway inhibitor 1	202	DKK-type Cys-2.				negative regulation of peptidyl-serine phosphorylation|negative regulation of protein complex assembly|negative regulation of transcription from RNA polymerase II promoter|positive regulation of heart induction by negative regulation of canonical Wnt receptor signaling pathway|regulation of receptor internalization	extracellular space|plasma membrane	growth factor activity|low-density lipoprotein particle receptor binding|receptor antagonist activity|signal transducer activity			kidney(2)|large_intestine(4)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	16						ATTGTGTTGTGCTAGACACTT	0.433													A	54076370	G	A	54076370	3	1	364	1	0	0	0	0	1	0	0	0	4583	1319	46	2	618	2	DKK1	10	54076370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45169	54076370	81458377	7854	31356											
PCDH15	65217	broad.mit.edu	37	chr10	55582700	55582700	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttgccactgctgcagatCtatgatctctggtctatttg	6	15	9	11	0	3	2	0	1	3	1	4	2	3	2	2	1	3	2	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55582700C>A	ENST00000361849.3	-	34	5186	c.4792G>T	c.(4792-4794)Gat>Tat	p.D1598Y	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.D1573Y|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.D1556Y|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D1593Y|PCDH15_ENST00000437009.1_Missense_Mutation_p.D1527Y|PCDH15_ENST00000395445.1_Intron|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.D1596Y|PCDH15_ENST00000373965.2_Intron|PCDH15_ENST00000414778.1_Intron	NM_001142763.1|NM_001142764.1|NM_001142765.1|NM_001142768.1	NP_001136235.1|NP_001136236.1|NP_001136237.1|NP_001136240.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1596					equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D1596Y(1)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TGCTGCAGATCTATGATCTCT	0.468										HNSCC(58;0.16)			A	55582700	C	A	55582700	3	1	364	1	0	0	0	0	1	0	0	0	11587	913	32	4	2691	4	PCDH15	10	55582700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1506330	55582700	79952047	7855	31357											
PCDH15	65217	broad.mit.edu	37	chr10	55721597	55721597	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcaaaaatactggcaGggtaaggaaactgtacatca	16	8	8	9	0	2	0	2	0	0	0	2	1	2	1	1	3	3	3	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:55721597G>T	ENST00000373965.2	-	23	3339	c.2945C>A	c.(2944-2946)cCt>cAt	p.P982H	PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.P953H|PCDH15_ENST00000361849.3_Missense_Mutation_p.P975H|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395432.2_Missense_Mutation_p.P938H|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.P586H|PCDH15_ENST00000395430.1_Missense_Mutation_p.P975H|PCDH15_ENST00000437009.1_Missense_Mutation_p.P904H|PCDH15_ENST00000395445.1_Missense_Mutation_p.P982H|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000395438.1_Missense_Mutation_p.P975H|PCDH15_ENST00000320301.6_Missense_Mutation_p.P975H|PCDH15_ENST00000414778.1_Missense_Mutation_p.P980H	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	975	Cadherin 9.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				AATACTGGCAGGGTAAGGAAA	0.328										HNSCC(58;0.16)			T	55721597	G	T	55721597	3	4	364	1	0	0	0	0	1	0	0	0	11587	1000	35	4	4610	4	PCDH15	10	55721597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138897	55721597	79813150	7856	31358											
PCDH15	65217	broad.mit.edu	37	chr10	56138598	56138598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagcatttgcttaacaggatCcatcaacacccagtaatcca	15	9	5	12	0	1	0	1	0	0	0	3	1	3	1	3	1	4	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:56138598C>T	ENST00000373965.2	-	4	656	c.262G>A	c.(262-264)Gat>Aat	p.D88N	PCDH15_ENST00000395446.1_Missense_Mutation_p.D88N|PCDH15_ENST00000373955.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395433.1_Missense_Mutation_p.D66N|PCDH15_ENST00000361849.3_Missense_Mutation_p.D88N|PCDH15_ENST00000395440.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395432.2_Missense_Mutation_p.D88N|PCDH15_ENST00000395442.1_Missense_Mutation_p.D88N|PCDH15_ENST00000409834.1_Intron|PCDH15_ENST00000395430.1_Missense_Mutation_p.D88N|PCDH15_ENST00000437009.1_Missense_Mutation_p.D88N|PCDH15_ENST00000395445.1_Missense_Mutation_p.D88N|PCDH15_ENST00000373957.3_Missense_Mutation_p.D66N|PCDH15_ENST00000395438.1_Missense_Mutation_p.D88N|PCDH15_ENST00000320301.6_Missense_Mutation_p.D88N|PCDH15_ENST00000414778.1_Missense_Mutation_p.D93N	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN	protocadherin-related 15	88	Cadherin 1.				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	p.D88Y(3)|p.D93Y(2)		NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				TTAACAGGATCCATCAACACC	0.403										HNSCC(58;0.16)			T	56138598	C	T	56138598	3	4	364	1	0	0	0	0	1	0	0	0	11587	855	30	2	7369	2	PCDH15	10	56138598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	417001	56138598	79396149	7857	31359											
ZWINT	11130	broad.mit.edu	37	chr10	58118442	58118442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagcctcagggaacaacaGcttaccctgcagggtataca	12	7	9	13	0	2	0	2	0	0	0	2	1	2	1	2	2	7	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:58118442G>A	ENST00000373944.3	-	7	705	c.667C>T	c.(667-669)Ctg>Ttg	p.L223L	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Silent_p.L223L|ZWINT_ENST00000361148.6_Silent_p.L176L|ZWINT_ENST00000318387.2_Silent_p.L103L			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	223					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						GGGAACAACAGCTTACCCTGC	0.517													A	58118442	G	A	58118442	2	1	364	1	0	0	0	0	0	0	0	1	18346	962	34	2		2	ZWINT	10	58118442	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1979844	58118442	77416305	7858	31360											
IPMK	253430	broad.mit.edu	37	chr10	59986875	59986875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcgtagctctagaagaacaCcatcaaaacagtcagcagca	16	7	7	11	1	3	2	2	0	1	2	4	2	3	2	1	0	5	4	1	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:59986875C>T	ENST00000373935.3	-	3	624	c.302G>A	c.(301-303)gGt>gAt	p.G101D		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	101						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						TAGAAGAACACCATCAAAACA	0.358													T	59986875	C	T	59986875	3	4	364	1	0	0	0	0	1	0	0	0	7850	507	18	2	964	2	IPMK	10	59986875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1868433	59986875	75547872	7859	31361											
FAM13C	220965	broad.mit.edu	37	chr10	61029813	61029813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtccccacagagtggaGgtcttctggtgcactgtcgg	5	10	15	11	1	2	1	0	0	2	1	4	2	3	2	2	5	1	2	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61029813G>T	ENST00000373867.3	-	8	865	c.400C>A	c.(400-402)Ctc>Atc	p.L134I	FAM13C_ENST00000442566.3_Missense_Mutation_p.L238I|FAM13C_ENST00000435852.2_Missense_Mutation_p.L217I|FAM13C_ENST00000419214.2_Missense_Mutation_p.L217I|FAM13C_ENST00000422313.2_Missense_Mutation_p.L217I|FAM13C_ENST00000373868.2_Missense_Mutation_p.L217I|FAM13C_ENST00000277705.6_Missense_Mutation_p.L238I|FAM13C_ENST00000468840.2_Missense_Mutation_p.L134I	NM_001166698.1	NP_001160170.1	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	217										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						ACAGAGTGGAGGTCTTCTGGT	0.527													T	61029813	G	T	61029813	3	4	364	1	0	0	0	0	1	0	0	0	5499	1000	35	4	1140	4	FAM13C	10	61029813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1042938	61029813	74504934	7860	31362											
SLC16A9	220963	broad.mit.edu	37	chr10	61413727	61413727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagtttaccaactgctgTcataatgcctataatggaaa	15	11	7	8	0	1	0	1	0	0	0	1	1	1	1	2	1	5	3	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413727T>C	ENST00000395348.3	-	5	1693	c.1057A>G	c.(1057-1059)Aca>Gca	p.T353A	SLC16A9_ENST00000395347.1_Missense_Mutation_p.T353A	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	353					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCAACTGCTGTCATAATGCCT	0.378													C	61413727	T	C	61413727	3	2	364	1	0	0	0	0	1	0	0	0	14509	1667	58	3	480	3	SLC16A9	10	61413727	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383914	61413727	74121020	7861	31363											
SLC16A9	220963	broad.mit.edu	37	chr10	61413994	61413994	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgtacgtttcaggctCttttgtgtgtgtcactgtgg	3	20	11	7	1	3	0	2	0	1	0	3	0	3	0	0	2	1	3	0	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61413994C>A	ENST00000395348.3	-	5	1426	c.790G>T	c.(790-792)Gag>Tag	p.E264*	SLC16A9_ENST00000395347.1_Nonsense_Mutation_p.E264*	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	264					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						GTTTCAGGCTCTTTTGTGTGT	0.413													A	61413994	C	A	61413994	4	1	364	1	0	0	0	0	0	1	0	0	14509	922	32	4	747	4	SLC16A9	10	61413994	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	267	61413994	74120753	7862	31364											
SLC16A9	220963	broad.mit.edu	37	chr10	61414270	61414270	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctaaagcacccacaatcaGcaagcatccatccagtccat	15	6	5	15	0	1	0	1	0	0	0	4	0	4	0	4	0	4	4	4	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61414270G>T	ENST00000395348.3	-	5	1150	c.514C>A	c.(514-516)Ctg>Atg	p.L172M	SLC16A9_ENST00000395347.1_Missense_Mutation_p.L172M	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	172					urate metabolic process	integral to membrane|plasma membrane	symporter activity			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						CCCACAATCAGCAAGCATCCA	0.438													T	61414270	G	T	61414270	3	4	364	1	0	0	0	0	1	0	0	0	14509	962	34	4	1023	4	SLC16A9	10	61414270	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276	61414270	74120477	7863	31365											
ANK3	288	broad.mit.edu	37	chr10	61828939	61828939	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acacatgaagaagtagtaagGgctttggttttctcggattg	11	13	12	5	1	1	2	0	1	1	1	2	3	1	3	0	3	0	4	0	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61828939G>T	ENST00000280772.2	-	37	11891	c.11700C>A	c.(11698-11700)gcC>gcA	p.A3900A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AAGTAGTAAGGGCTTTGGTTT	0.393													T	61828939	G	T	61828939	2	4	364	1	0	0	0	0	0	0	0	1	622	1219	43	4		4	ANK3	10	61828939	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	414669	61828939	73705808	7864	31366											
ANK3	288	broad.mit.edu	37	chr10	61829138	61829138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacacagtgtccttgtagtAcccctgtcttttttcctgat	6	18	6	11	0	1	1	0	1	1	0	3	1	3	1	4	0	2	2	4	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61829138A>G	ENST00000280772.2	-	37	11692	c.11501T>C	c.(11500-11502)gTa>gCa	p.V3834A	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TCCTTGTAGTACCCCTGTCTT	0.383													G	61829138	A	G	61829138	3	3	364	1	0	0	0	0	1	0	0	0	622	391	14	3	1973	3	ANK3	10	61829138	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	199	61829138	73705609	7865	31367											
ANK3	288	broad.mit.edu	37	chr10	61831460	61831460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatacatcactagagggaGattcctttcctgggctaaac	12	10	9	10	1	1	2	1	0	0	2	3	4	3	2	2	2	2	1	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61831460G>T	ENST00000280772.2	-	37	9370	c.9179C>A	c.(9178-9180)tCt>tAt	p.S3060Y	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ACTAGAGGGAGATTCCTTTCC	0.468													T	61831460	G	T	61831460	3	4	364	1	0	0	0	0	1	0	0	0	622	942	33	4	4295	4	ANK3	10	61831460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2322	61831460	73703287	7866	31368											
ANK3	288	broad.mit.edu	37	chr10	61834476	61834476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcaccatccttctttgcatCctcaaacttgtattttaagt	9	17	3	12	0	3	0	2	0	1	0	5	0	5	0	3	0	2	2	3	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61834476C>T	ENST00000280772.2	-	37	6354	c.6163G>A	c.(6163-6165)Gat>Aat	p.D2055N	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTCTTTGCATCCTCAAACTTG	0.398													T	61834476	C	T	61834476	3	4	364	1	0	0	0	0	1	0	0	0	622	855	30	2	7311	2	ANK3	10	61834476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3016	61834476	73700271	7867	31369											
ANK3	288	broad.mit.edu	37	chr10	61835998	61835998	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaatgtggatttgattggAgaaggtgtcgaaacagacca	13	10	12	6	1	0	3	0	1	0	2	1	6	0	4	2	3	1	0	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61835998A>G	ENST00000280772.2	-	37	4832	c.4641T>C	c.(4639-4641)tcT>tcC	p.S1547S	ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						ATTTGATTGGAGAAGGTGTCG	0.448													G	61835998	A	G	61835998	2	3	364	1	0	0	0	0	0	0	0	1	622	291	11	3		3	ANK3	10	61835998	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1522	61835998	73698749	7868	31370											
ANK3	288	broad.mit.edu	37	chr10	61932131	61932131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgagatgtagccgaggcGccgggcaatgccaagggcag	10	5	16	10	3	0	1	0	1	0	1	0	3	0	1	3	3	3	3	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:61932131G>A	ENST00000280772.2	-	21	2604	c.2413C>T	c.(2413-2415)Cgc>Tgc	p.R805C	ANK3_ENST00000373827.2_Missense_Mutation_p.R799C|ANK3_ENST00000503366.1_Missense_Mutation_p.R788C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TAGCCGAGGCGCCGGGCAATG	0.458													A	61932131	G	A	61932131	3	1	364	1	0	0	0	0	1	0	0	0	622	1087	38	1	11145	1	ANK3	10	61932131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96133	61932131	73602616	7869	31371											
CDK1	983	broad.mit.edu	37	chr10	62545441	62545441	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttcaggatgtgcttatgCaggattccaggttatatctc	8	15	10	8	0	3	0	1	0	2	0	5	2	4	2	1	3	2	3	1	3	3	5	rs11540347		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:62545441C>T	ENST00000448257.2	+	4	415	c.214C>T	c.(214-216)Cag>Tag	p.Q72*	CDK1_ENST00000395284.3_Nonsense_Mutation_p.Q72*|CDK1_ENST00000316629.4_Nonsense_Mutation_p.Q72*|CDK1_ENST00000373809.2_Nonsense_Mutation_p.Q72*			P06493	CDK1_HUMAN	cyclin-dependent kinase 1	72	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|axon guidance|cell division|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|mitosis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein localization to kinetochore|Ras protein signal transduction|regulation of transcription involved in G1/S phase of mitotic cell cycle|stress-activated MAPK cascade|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|midbody|nucleoplasm|spindle microtubule	ATP binding|cyclin-dependent protein kinase activity|RNA polymerase II carboxy-terminal domain kinase activity			ovary(1)	1						TGTGCTTATGCAGGATTCCAG	0.368													T	62545441	C	T	62545441	4	4	364	1	0	0	0	0	0	1	0	0	3154	711	25	2	224	2	CDK1	10	62545441	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613310	62545441	72989306	7870	31372											
TMEM26	219623	broad.mit.edu	37	chr10	63170129	63170129	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactggggagccccgcaaaGgaatagccaggccctcctta	10	6	12	13	1	0	1	0	1	0	0	1	3	1	3	5	4	2	1	5	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170129G>T	ENST00000399298.3	-	6	1426	c.1058C>A	c.(1057-1059)cCt>cAt	p.P353H	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	353						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					GCCCCGCAAAGGAATAGCCAG	0.582													T	63170129	G	T	63170129	3	4	364	1	0	0	0	0	1	0	0	0	16251	1000	35	4	52	4	TMEM26	10	63170129	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	624688	63170129	72364618	7871	31373											
TMEM26	219623	broad.mit.edu	37	chr10	63170226	63170226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgttctcctttcaggcCttctgactgacttctcaacg	7	14	6	14	1	4	2	2	2	3	0	6	2	4	2	3	1	1	1	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63170226C>A	ENST00000399298.3	-	6	1329	c.961G>T	c.(961-963)Ggc>Tgc	p.G321C	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	321						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					CCTTTCAGGCCTTCTGACTGA	0.567													A	63170226	C	A	63170226	3	1	364	1	0	0	0	0	1	0	0	0	16251	681	24	4	149	4	TMEM26	10	63170226	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97	63170226	72364521	7872	31374											
ARID5B	84159	broad.mit.edu	37	chr10	63817058	63817058	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgatagaacgaataccCtatttaggttttaaacagag	15	10	8	8	3	0	2	0	0	0	2	0	4	0	2	2	1	3	1	2	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63817058C>T	ENST00000279873.7	+	6	1439	c.1029C>T	c.(1027-1029)ccC>ccT	p.P343P	ARID5B_ENST00000309334.5_Silent_p.P100P	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	343	ARID.				liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					AACGAATACCCTATTTAGGTT	0.373													T	63817058	C	T	63817058	2	4	364	1	0	0	0	0	0	0	0	1	925	668	24	2		2	ARID5B	10	63817058	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	646832	63817058	71717689	7873	31375											
ARID5B	84159	broad.mit.edu	37	chr10	63851262	63851262	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacacgcccctgctctactcTaggggcaacccaggcatcat	9	8	8	16	1	3	0	1	0	2	0	3	0	3	0	3	3	4	3	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:63851262T>C	ENST00000279873.7	+	10	2450	c.2040T>C	c.(2038-2040)tcT>tcC	p.S680S	ARID5B_ENST00000309334.5_Silent_p.S437S	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	680					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					TGCTCTACTCTAGGGGCAACC	0.542													C	63851262	T	C	63851262	2	2	364	1	0	0	0	0	0	0	0	1	925	1509	53	3		3	ARID5B	10	63851262	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34204	63851262	71683485	7874	31376											
ZNF365	22891	broad.mit.edu	37	chr10	64136617	64136617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggccttaaacagacaggTggacgtggccgtggaaatga	11	6	16	8	3	0	2	0	1	0	1	0	4	0	4	2	5	1	0	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64136617T>C	ENST00000395254.3	+	2	945	c.665T>C	c.(664-666)gTg>gCg	p.V222A	ZNF365_ENST00000410046.3_Missense_Mutation_p.V222A|ZNF365_ENST00000466727.1_Intron|ZNF365_ENST00000395255.3_Missense_Mutation_p.V222A	NM_014951.2	NP_055766.2	Q70YC4	TALAN_HUMAN	zinc finger protein 365	0										breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27	Prostate(12;0.0297)|all_hematologic(501;0.228)					AACAGACAGGTGGACGTGGCC	0.512													C	64136617	T	C	64136617	3	2	364	1	0	0	0	0	1	0	0	0	17970	1696	59	3	667	3	ZNF365	10	64136617	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	285355	64136617	71398130	7875	31377											
JMJD1C	221037	broad.mit.edu	37	chr10	64967463	64967463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgatctttagaagctaaCtgcattgctggcatactatc	12	12	7	10	1	1	1	0	0	1	1	2	2	1	1	0	1	5	4	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64967463C>T	ENST00000399262.2	-	10	4184	c.3966G>A	c.(3964-3966)caG>caA	p.Q1322Q	JMJD1C_ENST00000399251.1_Silent_p.Q1103Q|JMJD1C_ENST00000402544.1_Silent_p.Q1103Q|JMJD1C_ENST00000542921.1_Silent_p.Q1140Q	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1322					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TAGAAGCTAACTGCATTGCTG	0.438													T	64967463	C	T	64967463	2	4	364	1	0	0	0	0	0	0	0	1	8008	564	20	2		2	JMJD1C	10	64967463	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	830846	64967463	70567284	7876	31378											
JMJD1C	221037	broad.mit.edu	37	chr10	64973474	64973474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcaagctgctggcatgaGcactctctagtcgtgggtgg	6	10	15	10	1	2	1	1	1	1	0	4	1	2	1	0	4	3	5	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:64973474G>T	ENST00000399262.2	-	8	2671	c.2453C>A	c.(2452-2454)gCt>gAt	p.A818D	JMJD1C_ENST00000399251.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000402544.1_Missense_Mutation_p.A599D|JMJD1C_ENST00000542921.1_Missense_Mutation_p.A636D	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	818					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTGGCATGAGCACTCTCTAG	0.527													T	64973474	G	T	64973474	3	4	364	1	0	0	0	0	1	0	0	0	8008	971	34	4	5245	4	JMJD1C	10	64973474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6011	64973474	70561273	7877	31379											
CTNNA3	29119	broad.mit.edu	37	chr10	68139106	68139106	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgacatcttccaagatatgGctttctgtaagtaaatgaat	13	15	7	6	0	2	3	0	2	2	1	3	3	3	3	1	1	0	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:68139106G>A	ENST00000433211.2	-	12	1710	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	CTNNA3_ENST00000373744.4_Silent_p.S512S	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CCAAGATATGGCTTTCTGTAA	0.378													A	68139106	G	A	68139106	2	1	364	1	0	0	0	0	0	0	0	1	4047	1194	42	2		2	CTNNA3	10	68139106	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3165632	68139106	67395641	7878	31380											
HERC4	26091	broad.mit.edu	37	chr10	69682740	69682740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcttggatcagtttagagCgtagagtttctttttctgta	8	18	10	5	1	3	2	1	0	2	2	3	3	3	3	0	1	2	5	0	1	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69682740C>T	ENST00000395198.3	-	26	3369	c.3122G>A	c.(3121-3123)cGc>cAc	p.R1041H	HERC4_ENST00000412272.2_Missense_Mutation_p.R963H|HERC4_ENST00000277817.6_Missense_Mutation_p.R931H|HERC4_ENST00000373700.4_Missense_Mutation_p.R1033H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	1041	HECT.				cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						CAGTTTAGAGCGTAGAGTTTC	0.358													T	69682740	C	T	69682740	3	4	364	1	0	0	0	0	1	0	0	0	7115	768	27	1	55	1	HERC4	10	69682740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1543634	69682740	65852007	7879	31381											
HERC4	26091	broad.mit.edu	37	chr10	69750132	69750132	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctagtcagtttaggaataAgattcttttccaaactagct	13	14	7	7	0	2	1	1	0	1	1	3	2	3	2	1	1	3	3	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69750132A>C	ENST00000395198.3	-	14	1716	c.1469T>G	c.(1468-1470)cTt>cGt	p.L490R	HERC4_ENST00000412272.2_Missense_Mutation_p.L490R|HERC4_ENST00000277817.6_Missense_Mutation_p.L380R|HERC4_ENST00000395187.2_3'UTR|HERC4_ENST00000373700.4_Missense_Mutation_p.L490R	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	490					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						TTTAGGAATAAGATTCTTTTC	0.328													C	69750132	A	C	69750132	3	2	364	1	0	0	0	0	1	0	0	0	7115	72	3	5	1756	5	HERC4	10	69750132	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67392	69750132	65784615	7880	31382											
HERC4	26091	broad.mit.edu	37	chr10	69804316	69804316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatccagggcaacaacCtgctctacagaaatcaagaa	15	6	9	11	0	2	2	1	0	1	2	3	2	3	2	2	2	4	3	2	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69804316C>G	ENST00000395198.3	-	4	478	c.231G>C	c.(229-231)caG>caC	p.Q77H	HERC4_ENST00000412272.2_Missense_Mutation_p.Q77H|HERC4_ENST00000395187.2_Intron|HERC4_ENST00000373700.4_Missense_Mutation_p.Q77H	NM_022079.2	NP_071362.1	Q5GLZ8	HERC4_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 4	77					cell differentiation|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	cytosol	ubiquitin-protein ligase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	27						GGGCAACAACCTGCTCTACAG	0.393													G	69804316	C	G	69804316	3	3	364	1	0	0	0	0	1	0	0	0	7115	680	24	4	3034	4	HERC4	10	69804316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54184	69804316	65730431	7881	31383											
MYPN	84665	broad.mit.edu	37	chr10	69966569	69966569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcctgccttctcattcaGccagccaagaaatcagacgc	11	9	7	14	1	3	2	3	0	1	2	4	2	3	2	4	0	4	0	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:69966569G>A	ENST00000358913.5	+	19	4190	c.3702G>A	c.(3700-3702)caG>caA	p.Q1234Q	MYPN_ENST00000354393.2_Silent_p.Q959Q|MYPN_ENST00000540630.1_Silent_p.Q1234Q	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1234	Ig-like 5.|Interaction with ACTN.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						TTCTCATTCAGCCAGCCAAGA	0.483													A	69966569	G	A	69966569	2	1	364	1	0	0	0	0	0	0	0	1	10174	962	34	2		2	MYPN	10	69966569	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162253	69966569	65568178	7882	31384											
PBLD	64081	broad.mit.edu	37	chr10	70056658	70056658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactttgtgcaaagttgtCtgtcgggtgcagttttcgga	6	17	12	6	2	1	0	0	0	1	0	3	1	1	1	0	2	3	4	0	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70056658C>A	ENST00000358769.2	-	3	371	c.169G>T	c.(169-171)Gac>Tac	p.D57Y	PBLD_ENST00000495025.2_Missense_Mutation_p.D57Y|PBLD_ENST00000309049.4_Missense_Mutation_p.D57Y|PBLD_ENST00000336578.1_Missense_Mutation_p.D24Y|PBLD_ENST00000432941.1_Missense_Mutation_p.D57Y	NM_022129.3	NP_071412.2	P30039	PBLD_HUMAN	phenazine biosynthesis-like protein domain containing	57					biosynthetic process		isomerase activity			endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCAAAGTTGTCTGTCGGGTGC	0.413													A	70056658	C	A	70056658	3	1	364	1	0	0	0	0	1	0	0	0	11565	913	32	4	818	4	PBLD	10	70056658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90089	70056658	65478089	7883	31385											
SLC25A16	8034	broad.mit.edu	37	chr10	70248235	70248235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacttacgatattgtctgCgctattgctccagcaacacc	11	11	7	12	2	1	0	0	0	1	0	2	2	2	0	2	0	6	3	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70248235C>T	ENST00000609923.1	-	7	860	c.762G>A	c.(760-762)gcG>gcA	p.A254A	SLC25A16_ENST00000265870.3_5'UTR|SLC25A16_ENST00000539557.1_Silent_p.A156A	NM_152707.3	NP_689920.1	P16260	GDC_HUMAN	solute carrier family 25 (mitochondrial carrier; Graves disease autoantigen), member 16						coenzyme biosynthetic process|pantothenate metabolic process	integral to membrane|mitochondrial inner membrane	binding|solute:solute antiporter activity			endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	7						ATATTGTCTGCGCTATTGCTC	0.343													T	70248235	C	T	70248235	2	4	364	1	0	0	0	0	0	0	0	1	14572	755	27	1		1	SLC25A16	10	70248235	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191577	70248235	65286512	7884	31386											
TET1	80312	broad.mit.edu	37	chr10	70333561	70333561	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagaaaaattcattacCtccagtaatggctataagca	16	10	6	9	0	2	1	2	0	0	1	3	2	3	1	2	1	2	3	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70333561C>A	ENST00000373644.4	+	2	1675	c.1466C>A	c.(1465-1467)cCt>cAt	p.P489H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	489					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATTCATTACCTCCAGTAATG	0.448													A	70333561	C	A	70333561	3	1	364	1	0	0	0	0	1	0	0	0	15869	681	24	4	1468	4	TET1	10	70333561	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85326	70333561	65201186	7885	31387											
CCAR1	55749	broad.mit.edu	37	chr10	70531163	70531163	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaacggagaaaatcaggCgatgataaagataaaaaaga	22	4	9	6	2	1	4	1	1	0	3	1	6	1	4	1	2	1	0	1	2	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70531163C>T	ENST00000265872.6	+	18	2618	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G	CCAR1_ENST00000543719.1_Silent_p.G818G|CCAR1_ENST00000535016.1_Silent_p.G818G	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	833	Glu-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						gaaaatcaggcgatgataaag	0.318													T	70531163	C	T	70531163	2	4	364	1	0	0	0	0	0	0	0	1	2756	755	27	1		1	CCAR1	10	70531163	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197602	70531163	65003584	7886	31388											
STOX1	219736	broad.mit.edu	37	chr10	70645583	70645583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttggattacccagttggCgtgaaccctttaagacaagc	10	12	9	10	1	0	2	0	1	0	1	0	3	0	3	2	2	3	1	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70645583C>T	ENST00000298596.6	+	3	2114	c.2031C>T	c.(2029-2031)ggC>ggT	p.G677G	STOX1_ENST00000399169.4_Silent_p.G677G|STOX1_ENST00000421961.2_Silent_p.G567G|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	677						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						ACCCAGTTGGCGTGAACCCTT	0.428													T	70645583	C	T	70645583	2	4	364	1	0	0	0	0	0	0	0	1	15415	755	27	1		1	STOX1	10	70645583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114420	70645583	64889164	7887	31389											
STOX1	219736	broad.mit.edu	37	chr10	70646364	70646364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggagatagtggaataGattctccacggtaggtccat	11	10	13	7	1	1	2	0	0	1	2	3	4	2	3	2	5	0	2	2	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70646364G>T	ENST00000298596.6	+	3	2895	c.2812G>T	c.(2812-2814)Gat>Tat	p.D938Y	STOX1_ENST00000399169.4_Missense_Mutation_p.D938Y|STOX1_ENST00000421961.2_Missense_Mutation_p.D828Y|STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	938						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TAGTGGAATAGATTCTCCACG	0.507													T	70646364	G	T	70646364	3	4	364	1	0	0	0	0	1	0	0	0	15415	942	33	4	2822	4	STOX1	10	70646364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	781	70646364	64888383	7888	31390											
STOX1	219736	broad.mit.edu	37	chr10	70652425	70652425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttctgcaaaatgtcgaagGcacaaagagcagtcaaccac	15	8	8	10	1	2	1	1	0	1	1	3	2	2	1	1	1	3	3	1	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70652425G>A	ENST00000298596.6	+	4	2986	c.2903G>A	c.(2902-2904)gGc>gAc	p.G968D	STOX1_ENST00000399169.4_Missense_Mutation_p.G968D|STOX1_ENST00000421961.2_Missense_Mutation_p.G858D|STOX1_ENST00000399162.2_3'UTR|STOX1_ENST00000399165.4_3'UTR	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	968						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						AATGTCGAAGGCACAAAGAGC	0.333													A	70652425	G	A	70652425	3	1	364	1	0	0	0	0	1	0	0	0	15415	1203	42	2	2917	2	STOX1	10	70652425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6061	70652425	64882322	7889	31391											
DDX21	9188	broad.mit.edu	37	chr10	70723131	70723131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacttaattgcacaggcacGgacaggaactgggaagacat	14	6	13	8	1	0	1	0	0	0	1	0	5	0	5	0	5	2	2	0	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70723131G>A	ENST00000354185.4	+	4	790	c.692G>A	c.(691-693)cGg>cAg	p.R231Q		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	231	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GCACAGGCACGGACAGGAACT	0.473													A	70723131	G	A	70723131	3	1	364	1	0	0	0	0	1	0	0	0	4383	1116	39	1	706	1	DDX21	10	70723131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70706	70723131	64811616	7890	31392											
DDX21	9188	broad.mit.edu	37	chr10	70738645	70738645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaattgaaatgccaaatatTagttatgcttggaaagaact	16	13	7	5	0	1	2	1	1	0	1	1	3	1	3	1	1	3	2	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70738645T>C	ENST00000354185.4	+	13	2048	c.1950T>C	c.(1948-1950)atT>atC	p.I650I		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	650						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCCAAATATTAGTTATGCTT	0.383													C	70738645	T	C	70738645	2	2	364	1	0	0	0	0	0	0	0	1	4383	1742	61	3		3	DDX21	10	70738645	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15514	70738645	64796102	7891	31393											
DDX21	9188	broad.mit.edu	37	chr10	70742539	70742539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaaacaaaggccagaagCggagtttcagtaaagcattt	16	7	9	9	1	1	1	1	0	0	1	1	2	1	2	2	2	3	3	2	2	6	3	rs117087416	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70742539C>T	ENST00000354185.4	+	15	2421	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_001256910.1|NM_004728.3	NP_001243839.1|NP_004719.2	Q9NR30	DDX21_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 21	775						nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGGCCAGAAGCGGAGTTTCAG	0.403													T	70742539	C	T	70742539	3	4	364	1	0	0	0	0	1	0	0	0	4383	759	27	1	2381	1	DDX21	10	70742539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3894	70742539	64792208	7892	31394											
KIAA1279	26128	broad.mit.edu	37	chr10	70775527	70775527	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactatgtctttgaggcaaaAgagttctttcagattgatgg	11	14	10	6	0	3	4	1	2	2	2	3	4	3	4	0	2	0	2	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775527A>C	ENST00000361983.4	+	7	1323	c.1221A>C	c.(1219-1221)aaA>aaC	p.K407N		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	407					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						TTGAGGCAAAAGAGTTCTTTC	0.403													C	70775527	A	C	70775527	3	2	364	1	0	0	0	0	1	0	0	0	8279	69	3	5	1247	5	KIAA1279	10	70775527	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32988	70775527	64759220	7893	31395											
KIAA1279	26128	broad.mit.edu	37	chr10	70775831	70775831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaaaaaataaataatCttaataagtcagcactgaag	21	11	5	4	0	2	1	1	1	1	0	2	1	2	1	0	0	1	2	0	0	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70775831C>A	ENST00000361983.4	+	7	1627	c.1525C>A	c.(1525-1527)Ctt>Att	p.L509I		NM_015634.3	NP_056449.1	Q96EK5	KBP_HUMAN	KIAA1279	509					cell differentiation|mitochondrial transport|nervous system development	mitochondrion	kinesin binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	14						AATAAATAATCTTAATAAGTC	0.393													A	70775831	C	A	70775831	3	1	364	1	0	0	0	0	1	0	0	0	8279	913	32	4	1551	4	KIAA1279	10	70775831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304	70775831	64758916	7894	31396											
VPS26A	9559	broad.mit.edu	37	chr10	70916787	70916787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcaatgacaagagtaataCtcatgaatttgtaaacctag	16	13	6	6	0	2	3	2	2	0	1	2	3	2	3	1	0	2	2	1	0	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70916787C>A	ENST00000373382.1	+	5	907	c.254C>A	c.(253-255)aCt>aAt	p.T85N	VPS26A_ENST00000541711.1_5'UTR|VPS26A_ENST00000263559.6_Missense_Mutation_p.T85N|VPS26A_ENST00000546041.1_Missense_Mutation_p.T68N|VPS26A_ENST00000490696.1_3'UTR|VPS26A_ENST00000395098.1_Missense_Mutation_p.T85N|VPS26A_ENST00000489794.1_Missense_Mutation_p.T60N			O75436	VP26A_HUMAN	vacuolar protein sorting 26 homolog A (S. pombe)	85					retrograde transport, endosome to Golgi|vacuolar transport	cytosol|endosome membrane|retromer complex|vesicle	protein binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)	8						AAGAGTAATACTCATGAATTT	0.318													A	70916787	C	A	70916787	3	1	364	1	0	0	0	0	1	0	0	0	17299	565	20	4	268	4	VPS26A	10	70916787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140956	70916787	64617960	7895	31397											
SUPV3L1	6832	broad.mit.edu	37	chr10	70960148	70960148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgcagattgctggcagaGctggcagattcagctcacgg	8	8	13	12	1	2	3	2	0	0	3	2	3	2	3	1	3	4	6	1	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70960148G>T	ENST00000359655.4	+	11	1471	c.1411G>T	c.(1411-1413)Gct>Tct	p.A471S		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	471	Helicase C-terminal.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TGCTGGCAGAGCTGGCAGATT	0.408													T	70960148	G	T	70960148	3	4	364	1	0	0	0	0	1	0	0	0	15498	971	34	4	1453	4	SUPV3L1	10	70960148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43361	70960148	64574599	7896	31398											
SUPV3L1	6832	broad.mit.edu	37	chr10	70968443	70968443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatccaagatggtgtgcaCaatatcactaaattgattaa	16	13	6	6	0	1	2	1	1	0	1	2	2	2	2	1	1	1	1	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:70968443C>T	ENST00000359655.4	+	15	2073	c.2013C>T	c.(2011-2013)caC>caT	p.H671H		NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	671	Interaction with HBXIP, important for protein stability.				DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATGGTGTGCACAATATCACTA	0.413													T	70968443	C	T	70968443	2	4	364	1	0	0	0	0	0	0	0	1	15498	477	17	2		2	SUPV3L1	10	70968443	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8295	70968443	64566304	7897	31399											
HKDC1	80201	broad.mit.edu	37	chr10	71016832	71016832	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggtttcaaggccactgActgtgaaggggaggacgtgg	11	7	16	7	1	1	2	1	2	0	0	1	4	1	4	1	6	0	1	1	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71016832A>T	ENST00000354624.5	+	13	2010	c.1877A>T	c.(1876-1878)gAc>gTc	p.D626V	HKDC1_ENST00000395086.2_Missense_Mutation_p.D626V	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	626					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AAGGCCACTGACTGTGAAGGG	0.522													T	71016832	A	T	71016832	3	4	364	1	0	0	0	0	1	0	0	0	7248	275	10	5	1927	5	HKDC1	10	71016832	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48389	71016832	64517915	7898	31400											
HK1	3098	broad.mit.edu	37	chr10	71129352	71129352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgacagggagatagacCggggatccctcaaccctgga	11	7	13	10	1	1	3	1	1	0	2	2	6	2	5	3	4	1	1	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71129352C>T	ENST00000448642.2	+	12	1341	c.952C>T	c.(952-954)Cgg>Tgg	p.R318W	HK1_ENST00000494253.1_3'UTR|HK1_ENST00000404387.2_Missense_Mutation_p.R287W|HK1_ENST00000298649.3_Missense_Mutation_p.R282W|HK1_ENST00000360289.2_Missense_Mutation_p.R271W|HK1_ENST00000359426.6_Missense_Mutation_p.R283W			P19367	HXK1_HUMAN	hexokinase 1	283	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGAGATAGACCGGGGATCCCT	0.478													T	71129352	C	T	71129352	3	4	364	1	0	0	0	0	1	0	0	0	7245	643	23	1	1051	1	HK1	10	71129352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112520	71129352	64405395	7899	31401											
TACR2	6865	broad.mit.edu	37	chr10	71175705	71175705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtcggcagcaatggcGgtcatggagtagatgctgac	8	9	15	9	2	1	2	1	1	0	1	2	3	1	3	1	4	3	4	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71175705G>A	ENST00000373306.4	-	1	918	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	125					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	CAGCAATGGCGGTCATGGAGT	0.572													A	71175705	G	A	71175705	2	1	364	1	0	0	0	0	0	0	0	1	15603	1103	39	1		1	TACR2	10	71175705	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46353	71175705	64359042	7900	31402											
SAR1A	56681	broad.mit.edu	37	chr10	71913627	71913627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccataaagcccaaatatCtcacggagtttttcttcact	11	14	5	11	1	3	0	2	0	2	0	5	1	4	1	2	1	1	1	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71913627C>A	ENST00000373242.2	-	7	643	c.447G>T	c.(445-447)gaG>gaT	p.E149D	SAR1A_ENST00000373241.4_Missense_Mutation_p.E149D|SAR1A_ENST00000431664.2_Missense_Mutation_p.E149D|SAR1A_ENST00000458634.2_Missense_Mutation_p.E106D|SAR1A_ENST00000373238.1_Missense_Mutation_p.E149D	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						GCCCAAATATCTCACGGAGTT	0.348													A	71913627	C	A	71913627	3	1	364	1	0	0	0	0	1	0	0	0	13931	912	32	4	157	4	SAR1A	10	71913627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737922	71913627	63621120	7901	31403											
SAR1A	56681	broad.mit.edu	37	chr10	71920819	71920819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcaattgttagctctTctgatgctgaaaaattgttt	10	17	7	7	0	2	2	0	2	2	0	3	2	3	2	1	0	3	5	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:71920819T>C	ENST00000373242.2	-	5	381	c.185A>G	c.(184-186)gAa>gGa	p.E62G	SAR1A_ENST00000373241.4_Missense_Mutation_p.E62G|SAR1A_ENST00000373236.1_Missense_Mutation_p.E62G|SAR1A_ENST00000431664.2_Missense_Mutation_p.E62G|SAR1A_ENST00000458634.2_Missense_Mutation_p.E19G|SAR1A_ENST00000373238.1_Missense_Mutation_p.E62G	NM_001142648.1	NP_001136120.1	Q9NR31	SAR1A_HUMAN	SAR1 homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport|intracellular protein transport	Golgi apparatus	GTP binding|GTPase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)	6						TGTTAGCTCTTCTGATGCTGA	0.358													C	71920819	T	C	71920819	3	2	364	1	0	0	0	0	1	0	0	0	13931	1783	62	3	427	3	SAR1A	10	71920819	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7192	71920819	63613928	7902	31404											
LRRC20	55222	broad.mit.edu	37	chr10	72100321	72100321	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctacctcggagctgacTgaatgtggtcatgaacttgc	8	10	13	10	1	1	3	1	3	0	0	2	4	1	4	2	3	4	1	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72100321T>A	ENST00000355790.4	-	3	697	c.220A>T	c.(220-222)Agt>Tgt	p.S74C	LRRC20_ENST00000395011.1_Intron|LRRC20_ENST00000395010.1_Missense_Mutation_p.S74C|LRRC20_ENST00000358141.2_Intron|LRRC20_ENST00000373224.1_Missense_Mutation_p.S74C	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	74										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						CGGAGCTGACTGAATGTGGTC	0.582													A	72100321	T	A	72100321	3	1	364	1	0	0	0	0	1	0	0	0	9047	1580	55	5	346	5	LRRC20	10	72100321	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	179502	72100321	63434426	7903	31405											
LRRC20	55222	broad.mit.edu	37	chr10	72136267	72136267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccttgctactctggccacgGcctcacccatcttcttcagc	5	12	6	18	1	5	0	2	0	3	0	6	0	6	0	4	2	3	1	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72136267G>A	ENST00000355790.4	-	2	500	c.23C>T	c.(22-24)gCc>gTc	p.A8V	LRRC20_ENST00000395011.1_Missense_Mutation_p.A8V|LRRC20_ENST00000395010.1_Missense_Mutation_p.A8V|LRRC20_ENST00000358141.2_Missense_Mutation_p.A8V|LRRC20_ENST00000373224.1_Missense_Mutation_p.A8V	NM_001278212.1|NM_001278214.1|NM_207119.1	NP_001265141.1|NP_001265143.1|NP_997002.1	Q8TCA0	LRC20_HUMAN	leucine rich repeat containing 20	8										endometrium(2)|large_intestine(4)|lung(2)|urinary_tract(1)	9						TCTGGCCACGGCCTCACCCAT	0.612													A	72136267	G	A	72136267	3	1	364	1	0	0	0	0	1	0	0	0	9047	1203	42	2	547	2	LRRC20	10	72136267	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35946	72136267	63398480	7904	31406											
NODAL	4838	broad.mit.edu	37	chr10	72195499	72195499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatgctgcccaaggaaaagGtgacctgggacaaagtgaca	14	5	12	10	0	0	2	0	2	0	0	0	4	0	4	3	3	2	1	3	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72195499G>T	ENST00000420338.2	+	1	915	c.446G>T	c.(445-447)gGt>gTt	p.G149V	NODAL_ENST00000287139.3_Missense_Mutation_p.T145N																							CAAGGAAAAGGTGACCTGGGA	0.557													T	72195499	G	T	72195499	3	4	364	1	0	0	0	0	1	0	0	0	10594	1261	44	4	617	4	NODAL	10	72195499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59232	72195499	63339248	7905	31407											
ADAMTS14	140766	broad.mit.edu	37	chr10	72468457	72468457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacagcatcgaggtgctgCtggtggtggacgactcggtg	6	9	17	9	3	0	0	0	0	0	0	2	3	0	1	0	5	4	4	0	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72468457C>T	ENST00000373208.1	+	4	793	c.793C>T	c.(793-795)Ctg>Ttg	p.L265L	ADAMTS14_ENST00000373207.1_Silent_p.L265L	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	265	Peptidase M12B.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CGAGGTGCTGCTGGTGGTGGA	0.602													T	72468457	C	T	72468457	2	4	364	1	0	0	0	0	0	0	0	1	259	796	28	2		2	ADAMTS14	10	72468457	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	272958	72468457	63066290	7906	31408											
ADAMTS14	140766	broad.mit.edu	37	chr10	72511319	72511319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctgccccttatcgggaGcaacaatgtgctcctggagg	7	9	12	13	1	0	0	0	0	0	0	2	2	1	2	4	3	5	3	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72511319G>A	ENST00000373208.1	+	17	2522	c.2522G>A	c.(2521-2523)aGc>aAc	p.S841N	ADAMTS14_ENST00000373207.1_Missense_Mutation_p.S838N	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	838	Spacer.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CTTATCGGGAGCAACAATGTG	0.637													A	72511319	G	A	72511319	3	1	364	1	0	0	0	0	1	0	0	0	259	971	34	2	2588	2	ADAMTS14	10	72511319	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42862	72511319	63023428	7907	31409											
ADAMTS14	140766	broad.mit.edu	37	chr10	72520573	72520573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagacctgagacatccCggcaccagcctccctgctgc	9	5	11	16	1	0	3	0	1	0	3	2	5	2	3	5	2	3	2	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72520573C>T	ENST00000373208.1	+	22	3645	c.3645C>T	c.(3643-3645)ccC>ccT	p.P1215P	ADAMTS14_ENST00000373207.1_Silent_p.P1212P	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	1212	Pro-rich.				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						TGAGACATCCCGGCACCAGCC	0.642													T	72520573	C	T	72520573	2	4	364	1	0	0	0	0	0	0	0	1	259	639	23	1		1	ADAMTS14	10	72520573	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9254	72520573	63014174	7908	31410											
SGPL1	8879	broad.mit.edu	37	chr10	72631635	72631635	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcatgtcgacgcttgTctgggaggcttcctcatcgt	4	13	10	14	3	3	0	2	0	1	0	6	2	4	1	3	2	0	2	3	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72631635T>C	ENST00000373202.3	+	11	1151	c.951T>C	c.(949-951)tgT>tgC	p.C317C		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	317					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	TCGACGCTTGTCTGGGAGGCT	0.423													C	72631635	T	C	72631635	2	2	364	1	0	0	0	0	0	0	0	1	14311	1673	58	3		3	SGPL1	10	72631635	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	111062	72631635	62903112	7909	31411											
SGPL1	8879	broad.mit.edu	37	chr10	72637079	72637080	+	Frame_Shift_Ins	INS	-	-	A																															agccagatgaatggttctccINSaaaaccccactgaacttgga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72637079_72637080insA	ENST00000373202.3	+	15	1894_1895	c.1694_1695insA	c.(1693-1698)ccaaaafs	p.PK565fs		NM_003901.3	NP_003892.2	O95470	SGPL1_HUMAN	sphingosine-1-phosphate lyase 1	565					apoptosis|carboxylic acid metabolic process|ceramide metabolic process|sphingolipid catabolic process	integral to endoplasmic reticulum membrane	carboxy-lyase activity|pyridoxal phosphate binding|sphinganine-1-phosphate aldolase activity			large_intestine(4)	4					Pyridoxal Phosphate(DB00114)	AATGGTTCTCCAAAACCCCACT	0.5													A	72637080	-	A	72637079	7	5	364	1	0	1	1	0	0	0	0	0	14311	594	21	0	1748	0	SGPL1	10	72637079	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5444	72637079	62897668	7910	31412											
PCBD1	5092	broad.mit.edu	37	chr10	72644921	72644921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcactcaccttgttgtacacGttaaaccattcaggatggtg	10	13	8	10	1	3	0	3	0	0	0	3	1	3	1	2	2	2	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:72644921G>A	ENST00000299299.3	-	3	454	c.204C>T	c.(202-204)aaC>aaT	p.N68N	PCBD1_ENST00000493228.1_5'UTR	NM_000281.2	NP_000272.1	P61457	PHS_HUMAN	pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 alpha	68					L-phenylalanine catabolic process|regulation of transcription, DNA-dependent|tetrahydrobiopterin biosynthetic process|transcription, DNA-dependent	cytosol|nucleus	4-alpha-hydroxytetrahydrobiopterin dehydratase activity|identical protein binding|transcription coactivator activity			breast(1)|endometrium(2)|large_intestine(1)	4						TGTTGTACACGTTAAACCATT	0.488													A	72644921	G	A	72644921	2	1	364	1	0	0	0	0	0	0	0	1	11574	1136	40	1		1	PCBD1	10	72644921	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7842	72644921	62889826	7911	31413											
UNC5B	219699	broad.mit.edu	37	chr10	73058900	73058900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actttgccaccaaagcgagcCccacgggtgtgatcctggac	9	7	11	14	2	0	1	0	1	0	0	1	3	1	2	5	2	3	0	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73058900C>T	ENST00000335350.6	+	17	3120	c.2704C>T	c.(2704-2706)Ccc>Tcc	p.P902S	UNC5B_ENST00000373192.4_Missense_Mutation_p.P891S	NM_170744.4	NP_734465.2	Q8IZJ1	UNC5B_HUMAN	unc-5 homolog B (C. elegans)	902	Death.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(4)|skin(4)	49						CAAAGCGAGCCCCACGGGTGT	0.607													T	73058900	C	T	73058900	3	4	364	1	0	0	0	0	1	0	0	0	17094	623	22	2	2770	2	UNC5B	10	73058900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	413979	73058900	62475847	7912	31414											
SLC29A3	55315	broad.mit.edu	37	chr10	73115972	73115972	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgcatgggactctacCtgctgctgtccaggctggag	5	11	13	12	0	2	0	0	0	2	0	3	2	3	2	2	3	5	5	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73115972C>A	ENST00000373189.5	+	5	797	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	249					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						GGGACTCTACCTGCTGCTGTC	0.552													A	73115972	C	A	73115972	3	1	364	1	0	0	0	0	1	0	0	0	14630	680	24	4	763	4	SLC29A3	10	73115972	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57072	73115972	62418775	7913	31415											
CDH23	64072	broad.mit.edu	37	chr10	73206145	73206145	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatcagcgaggacacGcctgtgggtgagtgggggca	7	7	18	9	2	1	2	1	2	0	0	1	4	1	3	1	4	2	2	1	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73206145G>A	ENST00000224721.6	+	2	143	c.138G>A	c.(136-138)acG>acA	p.T46T	CDH23_ENST00000461841.3_Silent_p.T91T|CDH23_ENST00000398842.3_Silent_p.T46T|CDH23_ENST00000299366.7_Silent_p.T91T|CDH23_ENST00000398809.4_Silent_p.T46T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	46	Cadherin 1.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCGAGGACACGCCTGTGGGTG	0.577													A	73206145	G	A	73206145	2	1	364	1	0	0	0	0	0	0	0	1	3138	1074	38	1		1	CDH23	10	73206145	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90173	73206145	62328602	7914	31416											
CDH23	64072	broad.mit.edu	37	chr10	73544138	73544138	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctacaacctgaccatCtgtgcccgtgaccgggggat	7	9	11	14	2	2	2	0	2	2	0	2	3	2	3	5	2	3	0	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73544138C>A	ENST00000224721.6	+	41	5483	c.5478C>A	c.(5476-5478)atC>atA	p.I1826I		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1821	Cadherin 17.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ACCTGACCATCTGTGCCCGTG	0.637													A	73544138	C	A	73544138	2	1	364	1	0	0	0	0	0	0	0	1	3138	903	32	4		4	CDH23	10	73544138	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	337993	73544138	61990609	7915	31417											
CDH23	64072	broad.mit.edu	37	chr10	73562688	73562688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggatgtcaatgactgcCggccacagttctccaagccc	8	9	10	14	1	2	1	1	1	1	0	3	2	2	2	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73562688C>T	ENST00000224721.6	+	53	7536	c.7531C>T	c.(7531-7533)Cgg>Tgg	p.R2511W	CDH23_ENST00000398788.3_Missense_Mutation_p.R266W|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2506	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAATGACTGCCGGCCACAGTT	0.587													T	73562688	C	T	73562688	3	4	364	1	0	0	0	0	1	0	0	0	3138	643	23	1	8071	1	CDH23	10	73562688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18550	73562688	61972059	7916	31418											
CDH23	64072	broad.mit.edu	37	chr10	73563013	73563013	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttggtgaccacacagcggCcactgcagtcctacgagaag	10	6	12	13	2	0	2	0	1	0	1	1	3	1	2	3	2	3	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73563013C>A	ENST00000224721.6	+	54	7728	c.7723C>A	c.(7723-7725)Cca>Aca	p.P2575T	CDH23_ENST00000398788.3_Missense_Mutation_p.P330T|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2570	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CACACAGCGGCCACTGCAGTC	0.607													A	73563013	C	A	73563013	3	1	364	1	0	0	0	0	1	0	0	0	3138	739	26	4	8267	4	CDH23	10	73563013	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325	73563013	61971734	7917	31419											
CDH23	64072	broad.mit.edu	37	chr10	73571132	73571132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcttttccggaactacaaCgtcctggacgtgcagcctgc	9	10	9	13	3	1	0	0	0	1	0	3	2	3	2	3	2	6	1	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571132C>T	ENST00000224721.6	+	62	9158	c.9153C>T	c.(9151-9153)aaC>aaT	p.N3051N	CDH23_ENST00000398788.3_Silent_p.N806N|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3046					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGAACTACAACGTCCTGGACG	0.632													T	73571132	C	T	73571132	2	4	364	1	0	0	0	0	0	0	0	1	3138	535	19	1		1	CDH23	10	73571132	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8119	73571132	61963615	7918	31420											
CDH23	64072	broad.mit.edu	37	chr10	73571499	73571499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctcaaggccattgtggCtggctcagctggtaagtgag	9	9	15	8	0	2	1	2	1	0	0	2	2	2	1	1	4	2	5	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73571499C>T	ENST00000224721.6	+	64	9328	c.9323C>T	c.(9322-9324)gCt>gTt	p.A3108V	CDH23_ENST00000398788.3_Missense_Mutation_p.A863V|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	3103					calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GCCATTGTGGCTGGCTCAGCT	0.647													T	73571499	C	T	73571499	3	4	364	1	0	0	0	0	1	0	0	0	3138	797	28	2	9907	2	CDH23	10	73571499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367	73571499	61963248	7919	31421											
PSAP	5660	broad.mit.edu	37	chr10	73581732	73581732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctttcacctcatcacaGaacccaaccagcgcacagat	13	8	4	16	1	4	2	3	0	1	2	5	2	4	2	3	0	3	1	3	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73581732G>T	ENST00000394936.3	-	8	957	c.810C>A	c.(808-810)ttC>ttA	p.F270L	PSAP_ENST00000394934.1_Missense_Mutation_p.F272L			P07602	SAP_HUMAN	prosaposin	270	Saposin B-type 2.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						CCTCATCACAGAACCCAACCA	0.567													T	73581732	G	T	73581732	3	4	364	1	0	0	0	0	1	0	0	0	12728	933	33	4	792	4	PSAP	10	73581732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10233	73581732	61953015	7920	31422											
CHST3	9469	broad.mit.edu	37	chr10	73767214	73767214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgctcatggccaccacgcGcaccggctcctcgttcgtgg	4	8	12	17	5	1	0	1	0	0	0	4	0	2	0	4	3	1	5	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767214G>A	ENST00000373115.4	+	3	862	c.425G>A	c.(424-426)cGc>cAc	p.R142H		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	142					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						GCCACCACGCGCACCGGCTCC	0.667													A	73767214	G	A	73767214	3	1	364	1	0	0	0	0	1	0	0	0	3435	1087	38	1	431	1	CHST3	10	73767214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185482	73767214	61767533	7921	31423											
CHST3	9469	broad.mit.edu	37	chr10	73767297	73767297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgctgtggcacatcgagCgcacagtgtccttcgagccg	7	7	13	14	5	0	0	0	0	0	0	3	2	1	0	3	1	3	3	3	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73767297C>T	ENST00000373115.4	+	3	945	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	170					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity	p.R170C(1)		endometrium(1)|lung(5)	6						GCACATCGAGCGCACAGTGTC	0.657													T	73767297	C	T	73767297	3	4	364	1	0	0	0	0	1	0	0	0	3435	768	27	1	514	1	CHST3	10	73767297	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	73767297	61767450	7922	31424											
SPOCK2	9806	broad.mit.edu	37	chr10	73828040	73828040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttgctgctcaggcacGcctgttgctccagcttacac	5	11	10	15	1	1	0	1	0	0	0	2	0	2	0	2	1	6	8	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:73828040G>A	ENST00000373109.2	-	6	938	c.494C>T	c.(493-495)gCg>gTg	p.A165V	SPOCK2_ENST00000536168.1_Missense_Mutation_p.A165V|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.A165V	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	165	Kazal-like.				extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCTCAGGCACGCCTGTTGCTC	0.667													A	73828040	G	A	73828040	3	1	364	1	0	0	0	0	1	0	0	0	15176	1087	38	1	804	1	SPOCK2	10	73828040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60743	73828040	61706707	7923	31425											
P4HA1	5033	broad.mit.edu	37	chr10	74806697	74806697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttacccttggttttgctaGgtctttgacgatttcaattt	7	20	7	7	1	2	1	1	1	1	0	2	2	2	1	1	2	2	2	1	2	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74806697G>T	ENST00000412021.2	-	9	1396	c.1063C>A	c.(1063-1065)Cta>Ata	p.L355I	P4HA1_ENST00000263556.3_Missense_Mutation_p.L355I|P4HA1_ENST00000394890.2_Missense_Mutation_p.L355I|P4HA1_ENST00000373008.2_Missense_Mutation_p.L355I|P4HA1_ENST00000440381.1_Missense_Mutation_p.L355I|P4HA1_ENST00000307116.2_Missense_Mutation_p.L355I	NM_001142595.1	NP_001136067.1	P13674	P4HA1_HUMAN	prolyl 4-hydroxylase, alpha polypeptide I	355						endoplasmic reticulum lumen|mitochondrion	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-proline 4-dioxygenase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15	Prostate(51;0.0198)				Hydralazine(DB01275)|L-Proline(DB00172)|Succinic acid(DB00139)|Vitamin C(DB00126)	GGTTTTGCTAGGTCTTTGACG	0.333													T	74806697	G	T	74806697	3	4	364	1	0	0	0	0	1	0	0	0	11432	991	35	4	648	4	P4HA1	10	74806697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	978657	74806697	60728050	7924	31426											
ECD	11319	broad.mit.edu	37	chr10	74912051	74912051	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctggttcaacattacCaatttcatgcccaattcatg	11	16	4	10	0	4	0	3	0	1	0	4	0	4	0	2	1	3	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74912051C>A	ENST00000372979.4	-	7	1118	c.912G>T	c.(910-912)ttG>ttT	p.L304F	ECD_ENST00000454759.2_Intron|ECD_ENST00000430082.2_Splice_Site_p.L304F	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	304					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					TCAACATTACCAATTTCATGC	0.428													A	74912051	C	A	74912051	5	1	364	1	0	0	0	0	0	0	1	0	4927	608	21	4	1157	4	ECD	10	74912051	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105354	74912051	60622696	7925	31427											
ECD	11319	broad.mit.edu	37	chr10	74914148	74914148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttagcactgccacaaTgccagctggaaggaagcagt	11	8	11	11	0	0	0	0	0	0	0	0	2	0	2	2	2	6	4	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:74914148T>C	ENST00000372979.4	-	6	855	c.649A>G	c.(649-651)Att>Gtt	p.I217V	ECD_ENST00000454759.2_Missense_Mutation_p.I217V|ECD_ENST00000430082.2_Missense_Mutation_p.I217V	NM_007265.2	NP_009196.1	O95905	SGT1_HUMAN	ecdysoneless homolog (Drosophila)	217					regulation of glycolysis|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	transcription coactivator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(51;0.0119)					ACTGCCACAATGCCAGCTGGA	0.473													C	74914148	T	C	74914148	3	2	364	1	0	0	0	0	1	0	0	0	4927	1464	51	3	1424	3	ECD	10	74914148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2097	74914148	60620599	7926	31428											
USP54	159195	broad.mit.edu	37	chr10	75335382	75335382	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcccttgtacactaccaCgaccccctgaaaaataattt	14	10	3	14	1	0	1	0	1	0	0	1	2	1	1	4	0	2	1	4	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75335382C>T	ENST00000394811.2	-	0	51				USP54_ENST00000319786.7_Missense_Mutation_p.R12H|USP54_ENST00000339859.4_Missense_Mutation_p.R12H|USP54_ENST00000428547.1_Missense_Mutation_p.R12H|USP54_ENST00000408019.1_Missense_Mutation_p.R12H			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54						ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity	p.R12H(1)		breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TACACTACCACGACCCCCTGA	0.453													T	75335382	C	T	75335382	1	4	364	1	0	0	0	0	0	0	0	0	17187	536	19	1		1	USP54	10	75335382	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421234	75335382	60199365	7927	31429											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406793	75406793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggggaccctgaggcgatagGgccaggagtcgggggaacct	8	4	20	9	2	0	1	0	1	0	0	1	5	0	4	3	7	1	0	3	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75406793G>A	ENST00000394810.2	-	4	2766	c.2617C>T	c.(2617-2619)Cct>Tct	p.P873S	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P649S	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	873	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GAGGCGATAGGGCCAGGAGTC	0.572													A	75406793	G	A	75406793	3	1	364	1	0	0	0	0	1	0	0	0	15555	1232	43	2	320	2	SYNPO2L	10	75406793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71411	75406793	60127954	7928	31430											
SYNPO2L	79933	broad.mit.edu	37	chr10	75408082	75408082	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtctggggctggctacaGgcgccggcaaggggctgggt	5	6	21	9	2	1	0	0	0	1	0	1	0	1	0	1	9	1	4	1	9	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75408082G>T	ENST00000394810.2	-	4	1477	c.1328C>A	c.(1327-1329)cCt>cAt	p.P443H	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.P219H	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	443	Pro-rich.					cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GCTGGCTACAGGCGCCGGCAA	0.672													T	75408082	G	T	75408082	3	4	364	1	0	0	0	0	1	0	0	0	15555	1000	35	4	1609	4	SYNPO2L	10	75408082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1289	75408082	60126665	7929	31431											
SEC24C	9632	broad.mit.edu	37	chr10	75525889	75525889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttatcttcatgattgacGtctcctacaatgccatcagg	9	14	6	12	1	4	2	2	2	2	0	5	2	4	2	3	1	2	0	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525889G>A	ENST00000339365.2	+	12	1690	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	SEC24C_ENST00000411652.2_Missense_Mutation_p.V391I|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.V510I|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	510					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					CATGATTGACGTCTCCTACAA	0.488													A	75525889	G	A	75525889	3	1	364	1	0	0	0	0	1	0	0	0	14089	1145	40	1	1566	1	SEC24C	10	75525889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117807	75525889	60008858	7930	31432											
SEC24C	9632	broad.mit.edu	37	chr10	75525908	75525908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcctacaatgccatcaGgactggtcttgttaggctcc	7	12	9	13	1	3	0	1	0	2	0	5	1	4	1	3	3	2	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75525908G>T	ENST00000339365.2	+	12	1709	c.1547G>T	c.(1546-1548)aGg>aTg	p.R516M	SEC24C_ENST00000411652.2_Missense_Mutation_p.R397M|SEC24C_ENST00000535742.1_Intron|SEC24C_ENST00000345254.4_Missense_Mutation_p.R516M|SEC24C_ENST00000540668.1_Intron|SEC24C_ENST00000546025.1_Intron	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	516					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AATGCCATCAGGACTGGTCTT	0.473													T	75525908	G	T	75525908	3	4	364	1	0	0	0	0	1	0	0	0	14089	1000	35	4	1585	4	SEC24C	10	75525908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19	75525908	60008839	7931	31433											
SEC24C	9632	broad.mit.edu	37	chr10	75528876	75528876	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagttcaagcatgacgAtcggctcaatgaagagagcg	12	8	14	7	3	2	3	2	2	0	1	3	6	2	4	0	2	2	3	0	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75528876A>C	ENST00000339365.2	+	18	2552	c.2390A>C	c.(2389-2391)gAt>gCt	p.D797A	SEC24C_ENST00000411652.2_Missense_Mutation_p.D678A|SEC24C_ENST00000535742.1_Missense_Mutation_p.D45A|SEC24C_ENST00000345254.4_Missense_Mutation_p.D797A|SEC24C_ENST00000540668.1_Missense_Mutation_p.D45A|SEC24C_ENST00000496827.1_3'UTR	NM_004922.3	NP_004913.2	P53992	SC24C_HUMAN	SEC24 family member C	797					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(12)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	Prostate(51;0.0112)					AAGCATGACGATCGGCTCAAT	0.542													C	75528876	A	C	75528876	3	2	364	1	0	0	0	0	1	0	0	0	14089	333	12	5	2452	5	SEC24C	10	75528876	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2968	75528876	60005871	7932	31434											
NDST2	8509	broad.mit.edu	37	chr10	75566178	75566178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtgtggatggggtacaCacccgagtggtggggggcca	6	7	19	9	2	0	0	0	0	0	0	0	2	0	1	2	7	2	1	2	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75566178C>T	ENST00000603027.1	-	6	1926	c.1303G>A	c.(1303-1305)Gtg>Atg	p.V435M	NDST2_ENST00000309979.6_Missense_Mutation_p.V435M|NDST2_ENST00000299641.4_Missense_Mutation_p.V312M						435																	ATGGGGTACACACCCGAGTGG	0.617													T	75566178	C	T	75566178	3	4	364	1	0	0	0	0	1	0	0	0	10332	478	17	2	1388	2	NDST2	10	75566178	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37302	75566178	59968569	7933	31435											
CAMK2G	818	broad.mit.edu	37	chr10	75585056	75585056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggccgtctgcaagggcGcgggctcttgggctgggctt	3	9	17	12	3	2	0	0	0	2	0	2	0	2	0	2	5	1	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75585056G>A	ENST00000423381.1	-	16	1259	c.1136C>T	c.(1135-1137)gCg>gTg	p.A379V	CAMK2G_ENST00000305762.7_Missense_Mutation_p.A358V|CAMK2G_ENST00000322680.3_Missense_Mutation_p.A347V|CAMK2G_ENST00000372765.1_Intron|CAMK2G_ENST00000472912.1_5'UTR|CAMK2G_ENST00000351293.3_Intron|CAMK2G_ENST00000444854.2_Silent_p.R147R|CAMK2G_ENST00000322635.3_Intron|CAMK2G_ENST00000394762.2_Intron	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma	358					insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					CTGCAAGGGCGCGGGCTCTTG	0.587													A	75585056	G	A	75585056	3	1	364	1	0	0	0	0	1	0	0	0	2628	1087	38	1	658	1	CAMK2G	10	75585056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18878	75585056	59949691	7934	31436											
CAMK2G	818	broad.mit.edu	37	chr10	75609093	75609094	+	Splice_Site	INS	-	-	A																															atctgatgtatacagtggctINSaaaaaagcagaaggaaaaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75609093_75609094insA	ENST00000423381.1	-	6	465		c.e6-2		CAMK2G_ENST00000305762.7_Splice_Site|CAMK2G_ENST00000372765.1_Splice_Site|CAMK2G_ENST00000322635.3_Splice_Site|CAMK2G_ENST00000322680.3_Splice_Site|CAMK2G_ENST00000351293.3_Splice_Site|CAMK2G_ENST00000472912.1_Splice_Site|CAMK2G_ENST00000394762.2_Splice_Site|CAMK2G_ENST00000444854.2_Intron	NM_001204492.1	NP_001191421.1	Q13555	KCC2G_HUMAN	calcium/calmodulin-dependent protein kinase II gamma						insulin secretion|interferon-gamma-mediated signaling pathway|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding|calmodulin-dependent protein kinase activity			kidney(2)|large_intestine(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	15	Prostate(51;0.0112)					ATACAGTGGCTAAAAAAGCAGA	0.515											OREG0020267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75609094	-	A	75609093	8	5	364	1	0	1	1	0	0	0	1	0	2628	1536	53	0	1494	0	CAMK2G	10	75609093	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	24037	75609093	59925654	7935	31437											
PLAU	5328	broad.mit.edu	37	chr10	75672800	75672800	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgtccttcagcaaacgtaCcatgcccacagatctgatgc	11	9	7	14	1	2	2	1	1	1	1	3	2	3	2	3	0	5	2	3	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75672800C>A	ENST00000446342.1	+	4	743	c.261C>A	c.(259-261)taC>taA	p.Y87*	C10orf55_ENST00000409178.1_Splice_Site|PLAU_ENST00000494287.1_3'UTR|C10orf55_ENST00000412307.2_Splice_Site|PLAU_ENST00000372762.4_Nonsense_Mutation_p.Y68*|PLAU_ENST00000372764.3_Nonsense_Mutation_p.Y104*	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	104	Kringle.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	AGCAAACGTACCATGCCCACA	0.567													A	75672800	C	A	75672800	4	1	364	1	0	0	0	0	0	1	0	0	12099	521	18	4	364	4	PLAU	10	75672800	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63707	75672800	59861947	7936	31438											
AP3M1	26985	broad.mit.edu	37	chr10	75896419	75896419	+	Missense_Mutation	SNP	A	A	G																															agttgacaacagagcgtagaAttgttggtggtttaatcaat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896419A>G	ENST00000355264.4	-	3	727	c.416T>C	c.(415-417)aTt>aCt	p.I139T	AP3M1_ENST00000372745.1_Missense_Mutation_p.I139T	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	139					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AGAGCGTAGAATTGTTGGTGG	0.338													G	75896419	A	G	75896419	3	3	364	1	0	0	0	0	1	0	0	0	749	101	4	3	868	3	AP3M1	10	75896419	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	223619	75896419	59638328	7937	31439	76	2									
AP3M1	26985	broad.mit.edu	37	chr10	75896428	75896428	+	Missense_Mutation	SNP	G	G	T																															cagagcgtagaattgttggtGgtttaatcaattctttcaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:75896428G>T	ENST00000355264.4	-	3	718	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	AP3M1_ENST00000372745.1_Missense_Mutation_p.P136Q	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	136					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					AATTGTTGGTGGTTTAATCAA	0.328													T	75896428	G	T	75896428	3	4	364	1	0	0	0	0	1	0	0	0	749	1348	47	4	877	4	AP3M1	10	75896428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	75896428	59638319	7938	31440	76	2									
DUPD1	338599	broad.mit.edu	37	chr10	76818215	76818215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatcttcggcgacaGcctcttggcagatgagtagg	7	10	11	13	2	2	2	0	1	2	1	5	3	4	2	3	3	1	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76818215G>A	ENST00000338487.5	-	1	57	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	20						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCGGCGACAGCCTCTTGGCA	0.542													A	76818215	G	A	76818215	2	1	364	1	0	0	0	0	0	0	0	1	4843	962	34	2		2	DUPD1	10	76818215	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	921787	76818215	58716532	7939	31441											
DUSP13	51207	broad.mit.edu	37	chr10	76854614	76854614	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcggcttacccccatGgcacagtgtaccagcacgcg	9	5	12	15	3	0	1	0	0	0	1	0	1	0	1	3	2	4	5	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76854614G>T	ENST00000491677.2	-	8	1346	c.804C>A	c.(802-804)gcC>gcA	p.A268A	DUSP13_ENST00000472493.2_Silent_p.A139A|DUSP13_ENST00000464872.1_Silent_p.A88A|DUSP13_ENST00000372700.3_Silent_p.A189A|DUSP13_ENST00000605915.1_Silent_p.A161A|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Silent_p.A232A|DUSP13_ENST00000478873.2_Silent_p.A275A	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	130						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTACCCCCATGGCACAGTGTA	0.592													T	76854614	G	T	76854614	2	4	364	1	0	0	0	0	0	0	0	1	4852	1335	47	4		4	DUSP13	10	76854614	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36399	76854614	58680133	7940	31442											
SAMD8	142891	broad.mit.edu	37	chr10	76924436	76924436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgggcctttgccatgacGgaagtatgtggcatgattct	8	12	12	9	1	1	2	0	2	1	0	1	3	1	3	3	3	1	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76924436G>A	ENST00000372687.4	+	3	697	c.612G>A	c.(610-612)acG>acA	p.T204T	SAMD8_ENST00000372690.3_Silent_p.T267T|SAMD8_ENST00000542569.1_Silent_p.T204T			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane		p.T267T(1)|p.T204T(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTGCCATGACGGAAGTATGTG	0.398													A	76924436	G	A	76924436	2	1	364	1	0	0	0	0	0	0	0	1	13916	1103	39	1		1	SAMD8	10	76924436	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69822	76924436	58610311	7941	31443											
VDAC2	7417	broad.mit.edu	37	chr10	76980698	76980698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taactttgcagtgggctacaGgactggggacttccagctac	9	10	12	10	0	0	0	0	0	0	0	1	2	1	2	1	4	5	3	1	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:76980698G>T	ENST00000535553.1	+	8	793	c.437G>T	c.(436-438)aGg>aTg	p.R146M	VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000313132.4_Missense_Mutation_p.R200M|VDAC2_ENST00000543351.1_Missense_Mutation_p.R185M|VDAC2_ENST00000332211.6_Missense_Mutation_p.R185M			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	185						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	GTGGGCTACAGGACTGGGGAC	0.453													T	76980698	G	T	76980698	3	4	364	1	0	0	0	0	1	0	0	0	17249	1000	35	4	656	4	VDAC2	10	76980698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56262	76980698	58554049	7942	31444											
ZNF503	84858	broad.mit.edu	37	chr10	77142072	77142073	+	RNA	INS	-	-	A																															tcaaatcttccttactaaggINSaaaaaatgggaacaacaaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77142072_77142073insA	ENST00000418818.2	-	0	142																											CCTTACTAAGGAAAAAATGGGA	0.342													A	77142073	-	A	77142072	6	5	364	0	1	1	1	0	0	0	0	0	18052	1189	41	0		0	ZNF503	10	77142072	RNA	INS	-	TCGA-DU-6392-01A-11D-1705-08	161374	77142072	58392675	7943	31445											
ZNF503	84858	broad.mit.edu	37	chr10	77158794	77158794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagctggggtagcccgacaGcagtttgtctgtcccgggaa	7	8	15	11	3	1	0	0	0	1	0	2	3	2	1	2	3	3	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:77158794G>T	ENST00000372524.4	-	2	2140	c.1654C>A	c.(1654-1656)Ctg>Atg	p.L552M	ZNF503_ENST00000535216.1_Missense_Mutation_p.L552M|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					TAGCCCGACAGCAGTTTGTCT	0.687													T	77158794	G	T	77158794	3	4	364	1	0	0	0	0	1	0	0	0	18052	962	34	4	290	4	ZNF503	10	77158794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16722	77158794	58375953	7944	31446											
DLG5	9231	broad.mit.edu	37	chr10	79603266	79603266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtccctctgctgggtcaGcatctctgtctgcttcagca	4	13	10	14	1	5	0	2	0	3	0	7	0	6	0	1	1	4	4	1	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79603266G>A	ENST00000372391.2	-	6	1068	c.1063C>T	c.(1063-1065)Ctg>Ttg	p.L355L	DLG5_ENST00000372388.2_Silent_p.L355L	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	355					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGCTGGGTCAGCATCTCTGTC	0.637													A	79603266	G	A	79603266	2	1	364	1	0	0	0	0	0	0	0	1	4597	962	34	2		2	DLG5	10	79603266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2444472	79603266	55931481	7945	31447											
DLG5	9231	broad.mit.edu	37	chr10	79628942	79628942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcatggtggacaggacGctgtaggtagaacctgggga	10	6	19	6	1	0	1	0	0	0	1	0	5	0	4	1	7	1	4	1	7	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79628942G>A	ENST00000372391.2	-	2	323	c.318C>T	c.(316-318)agC>agT	p.S106S	DLG5_ENST00000372388.2_Silent_p.S106S|AL391421.1_ENST00000372387.1_3'UTR	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	106					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TGGACAGGACGCTGTAGGTAG	0.592													A	79628942	G	A	79628942	2	1	364	1	0	0	0	0	0	0	0	1	4597	1078	38	1		1	DLG5	10	79628942	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25676	79628942	55905805	7946	31448											
POLR3A	11128	broad.mit.edu	37	chr10	79742556	79742556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgtgcagatggaatatCtcactgtctcagcgttcacc	9	12	10	10	1	3	1	3	0	2	1	5	3	3	3	1	2	2	2	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79742556C>A	ENST00000372371.3	-	27	3586	c.3449G>T	c.(3448-3450)aGa>aTa	p.R1150I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	1150					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GATGGAATATCTCACTGTCTC	0.507													A	79742556	C	A	79742556	3	1	364	1	0	0	0	0	1	0	0	0	12305	913	32	4	743	4	POLR3A	10	79742556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113614	79742556	55792191	7947	31449											
POLR3A	11128	broad.mit.edu	37	chr10	79753080	79753080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagagcttcggactgtcaGatcatactgggagcaaagat	13	9	12	7	1	2	3	2	0	0	3	3	5	2	5	0	2	3	3	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79753080G>T	ENST00000372371.3	-	20	2799	c.2662C>A	c.(2662-2664)Ctg>Atg	p.L888M		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	888					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CGGACTGTCAGATCATACTGG	0.448													T	79753080	G	T	79753080	3	4	364	1	0	0	0	0	1	0	0	0	12305	933	33	4	1558	4	POLR3A	10	79753080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10524	79753080	55781667	7948	31450											
POLR3A	11128	broad.mit.edu	37	chr10	79777428	79777428	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctctacgatgtcaccatActtgagctcttgagccatct	8	14	6	13	1	5	2	1	2	4	0	6	3	5	2	2	0	4	1	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79777428A>G	ENST00000372371.3	-	10	1473	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	446					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			ATGTCACCATACTTGAGCTCT	0.443													G	79777428	A	G	79777428	3	3	364	1	0	0	0	0	1	0	0	0	12305	391	14	3	2924	3	POLR3A	10	79777428	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24348	79777428	55757319	7949	31451											
POLR3A	11128	broad.mit.edu	37	chr10	79784456	79784456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagtccacacttctttaCggtacctataagggttagtt	10	13	8	10	1	1	0	0	0	1	0	2	0	2	0	2	2	3	4	2	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:79784456C>T	ENST00000372371.3	-	5	633	c.496G>A	c.(496-498)Gta>Ata	p.V166I		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	166					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CACTTCTTTACGGTACCTATA	0.323													T	79784456	C	T	79784456	3	4	364	1	0	0	0	0	1	0	0	0	12305	536	19	1	3784	1	POLR3A	10	79784456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7028	79784456	55750291	7950	31452											
ZMIZ1	57178	broad.mit.edu	37	chr10	81060680	81060680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcaacaccatccagatcaCcgtcacggcctgctgctgcg	8	6	9	18	4	2	1	2	0	0	1	3	1	3	1	5	1	4	3	5	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81060680C>T	ENST00000334512.5	+	17	2572	c.2000C>T	c.(1999-2001)aCc>aTc	p.T667I		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	667					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ATCCAGATCACCGTCACGGCC	0.662													T	81060680	C	T	81060680	3	4	364	1	0	0	0	0	1	0	0	0	17797	507	18	2	2050	2	ZMIZ1	10	81060680	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1276224	81060680	54474067	7951	31453											
SFTPA1	653509	broad.mit.edu	37	chr10	81373771	81373771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggtaccgaggggagcccGcaggtcggggaaaagagcag	11	3	18	9	3	0	1	0	0	0	1	1	4	0	3	2	6	3	3	2	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81373771G>T	ENST00000398636.3	+	6	787	c.649G>T	c.(649-651)Gca>Tca	p.A217S	SFTPA1_ENST00000372308.3_Missense_Mutation_p.A217S|SFTPA1_ENST00000419470.2_Missense_Mutation_p.A232S|SFTPA1_ENST00000372313.5_Missense_Mutation_p.A158S|SFTPA1_ENST00000428376.2_Missense_Mutation_p.A217S	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	217	C-type lectin.				cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			AGGGGAGCCCGCAGGTCGGGG	0.562													T	81373771	G	T	81373771	3	4	364	1	0	0	0	0	1	0	0	0	14282	1087	38	4	712	4	SFTPA1	10	81373771	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	313091	81373771	54160976	7952	31454											
ANXA11	311	broad.mit.edu	37	chr10	81917736	81917736	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacataccctcatggccttgTtgagcctctccgcaaagaag	10	10	8	13	1	2	2	1	1	1	1	3	2	2	2	4	1	3	2	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:81917736T>C	ENST00000438331.1	-	15	1804	c.1322A>G	c.(1321-1323)aAc>aGc	p.N441S	ANXA11_ENST00000422982.3_Missense_Mutation_p.N441S|ANXA11_ENST00000360615.4_Missense_Mutation_p.N441S|ANXA11_ENST00000535999.1_Missense_Mutation_p.N441S|ANXA11_ENST00000372231.3_Missense_Mutation_p.N441S|ANXA11_ENST00000537102.1_Missense_Mutation_p.N408S|ANXA11_ENST00000265447.4_Missense_Mutation_p.N441S	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	441					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			CATGGCCTTGTTGAGCCTCTC	0.532													C	81917736	T	C	81917736	3	2	364	1	0	0	0	0	1	0	0	0	716	1725	60	3	207	3	ANXA11	10	81917736	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	543965	81917736	53617011	7953	31455											
LRIT2	340745	broad.mit.edu	37	chr10	85982088	85982088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacagcataagtattgattCcggggccaatgtgaaccacc	12	8	9	12	1	0	2	0	2	0	0	1	2	1	2	5	2	2	2	5	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85982088C>A	ENST00000372113.4	-	3	1246	c.1241G>T	c.(1240-1242)gGa>gTa	p.G414V	LRIT2_ENST00000538192.1_Missense_Mutation_p.G424V	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	414	Fibronectin type-III.					integral to membrane		p.G414L(2)|p.G414V(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AGTATTGATTCCGGGGCCAAT	0.552													A	85982088	C	A	85982088	3	1	364	1	0	0	0	0	1	0	0	0	9018	855	30	4	415	4	LRIT2	10	85982088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4064352	85982088	49552659	7954	31456											
LRIT1	26103	broad.mit.edu	37	chr10	85997350	85997350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcctcgccaggaaccctgCgtatggccgtccgctccagg	6	6	13	16	4	0	0	0	0	0	0	3	1	2	1	6	4	2	2	6	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:85997350C>T	ENST00000372105.3	-	2	236	c.215G>A	c.(214-216)cGc>cAc	p.R72H		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	72						integral to endoplasmic reticulum membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGGAACCCTGCGTATGGCCGT	0.697													T	85997350	C	T	85997350	3	4	364	1	0	0	0	0	1	0	0	0	9017	768	27	1	1668	1	LRIT1	10	85997350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15262	85997350	49537397	7955	31457											
GRID1	2894	broad.mit.edu	37	chr10	87628915	87628915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactatggaccagatccAggatctccgggtcactgatt	9	9	12	11	1	2	2	1	1	1	1	4	4	3	4	3	4	0	1	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:87628915A>G	ENST00000327946.7	-	6	888	c.803T>C	c.(802-804)cTg>cCg	p.L268P		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	268						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GACCAGATCCAGGATCTCCGG	0.502										Multiple Myeloma(13;0.14)			G	87628915	A	G	87628915	3	3	364	1	0	0	0	0	1	0	0	0	6826	188	7	3	2270	3	GRID1	10	87628915	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1631565	87628915	47905832	7956	31458											
WAPAL	23063	broad.mit.edu	37	chr10	88218790	88218790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatctttatatgctatcaaGtagctttgattttcgggatt	10	18	8	5	1	2	1	1	1	1	0	3	3	2	2	0	1	2	3	0	1	6	9	rs143256744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88218790G>A	ENST00000298767.5	-	12	3085	c.2613C>T	c.(2611-2613)taC>taT	p.Y871Y	WAPAL_ENST00000372075.1_Silent_p.Y138Y|WAPAL_ENST00000263070.7_Silent_p.Y138Y	NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	871	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding	p.Y871Y(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						ATGCTATCAAGTAGCTTTGAT	0.284													A	88218790	G	A	88218790	2	1	364	1	0	0	0	0	0	0	0	1	17350	1024	36	2		2	WAPAL	10	88218790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	589875	88218790	47315957	7957	31459											
WAPAL	23063	broad.mit.edu	37	chr10	88259847	88259847	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcaggagtggatgcagTgaactcatccatgctgcgtt	9	11	12	9	1	2	1	1	1	1	0	3	3	3	3	1	2	5	4	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88259847T>C	ENST00000298767.5	-	3	1625	c.1153A>G	c.(1153-1155)Act>Gct	p.T385A		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	385	Mediates interaction with the cohesin complex.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						GTGGATGCAGTGAACTCATCC	0.418													C	88259847	T	C	88259847	3	2	364	1	0	0	0	0	1	0	0	0	17350	1696	59	3	2487	3	WAPAL	10	88259847	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	41057	88259847	47274900	7958	31460											
OPN4	94233	broad.mit.edu	37	chr10	88414583	88414583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccgcccagcccaaccCaagagcccagctgcatggcc	9	3	10	19	1	0	1	0	0	0	1	1	2	1	1	6	1	5	2	6	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88414583C>T	ENST00000372071.2	+	1	270	c.43C>T	c.(43-45)Caa>Taa	p.Q15*	OPN4_ENST00000241891.5_Nonsense_Mutation_p.Q15*	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	15					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CAGCCCAACCCAAGAGCCCAG	0.647													T	88414583	C	T	88414583	4	4	364	1	0	0	0	0	0	1	0	0	10958	595	21	2	45	2	OPN4	10	88414583	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154736	88414583	47120164	7959	31461											
LDB3	11155	broad.mit.edu	37	chr10	88446979	88446979	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtattcccaggatgccatCatggatgccatcgctgggca	9	10	11	11	1	1	0	1	0	0	0	3	2	2	2	3	3	2	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88446979C>T	ENST00000429277.2	+	6	988	c.843C>T	c.(841-843)atC>atT	p.I281I	LDB3_ENST00000372056.4_Silent_p.I281I|LDB3_ENST00000458213.2_Silent_p.I166I|LDB3_ENST00000542786.1_3'UTR|LDB3_ENST00000361373.4_Intron|LDB3_ENST00000263066.6_Silent_p.I166I|LDB3_ENST00000352360.5_Intron|LDB3_ENST00000372066.3_Silent_p.I166I|LDB3_ENST00000310944.6_Intron	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	271						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						AGGATGCCATCATGGATGCCA	0.632													T	88446979	C	T	88446979	2	4	364	1	0	0	0	0	0	0	0	1	8756	816	29	2		2	LDB3	10	88446979	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32396	88446979	47087768	7960	31462											
LDB3	11155	broad.mit.edu	37	chr10	88476230	88476230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactccatccccagcaccaGcctataccccctcacctgcc	9	6	3	23	0	1	0	1	0	0	0	3	0	3	0	9	0	4	1	9	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88476230G>A	ENST00000429277.2	+	10	1538	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T	LDB3_ENST00000458213.2_Missense_Mutation_p.A350T|LDB3_ENST00000361373.4_Missense_Mutation_p.A460T|LDB3_ENST00000263066.6_Missense_Mutation_p.A350T|LDB3_ENST00000352360.5_Missense_Mutation_p.A203T	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	460						cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						cccagcaccagcctatacccc	0.687													A	88476230	G	A	88476230	3	1	364	1	0	0	0	0	1	0	0	0	8756	971	34	2	1748	2	LDB3	10	88476230	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29251	88476230	47058517	7961	31463											
LDB3	11155	broad.mit.edu	37	chr10	88485985	88485985	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagccctgggccacacttgGcacgacacctgcttcatttg	8	9	10	14	1	1	0	1	0	0	0	1	2	1	0	3	2	2	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88485985G>A	ENST00000429277.2	+	13	2230	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*	LDB3_ENST00000458213.2_Nonsense_Mutation_p.W580*|LDB3_ENST00000361373.4_Nonsense_Mutation_p.W690*|LDB3_ENST00000263066.6_Nonsense_Mutation_p.W580*|LDB3_ENST00000352360.5_Nonsense_Mutation_p.W433*	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	690	LIM zinc-binding 3.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						GCCACACTTGGCACGACACCT	0.547													A	88485985	G	A	88485985	4	1	364	1	0	0	0	0	0	1	0	0	8756	1212	42	2	2452	2	LDB3	10	88485985	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9755	88485985	47048762	7962	31464											
AGAP11	119385	broad.mit.edu	37	chr10	88768928	88768928	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatccagagccagatcCtggccagcctgcagtcatgc	10	6	10	15	0	1	2	1	0	0	2	3	2	3	2	6	1	5	1	6	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88768928C>A	ENST00000444431.1	+	0	3528				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GAGCCAGATCCTGGCCAGCCT	0.557													A	88768928	C	A	88768928	1	1	364	0	1	0	0	0	0	0	0	0	367	680	24	4		4	AGAP11	10	88768928	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	282943	88768928	46765819	7963	31465											
AGAP11	119385	broad.mit.edu	37	chr10	88769219	88769219	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctattggcaatgacctaGccaacagcatctgggaaggg	12	8	11	10	0	2	1	0	1	2	0	2	2	2	2	2	3	3	2	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88769219G>A	ENST00000444431.1	+	0	3819				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CAATGACCTAGCCAACAGCAT	0.547													A	88769219	G	A	88769219	1	1	364	0	1	0	0	0	0	0	0	0	367	971	34	2		2	AGAP11	10	88769219	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	291	88769219	46765528	7964	31466											
GLUD1	2746	broad.mit.edu	37	chr10	88811578	88811578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcattaacataggcagctGttctcaggtccaatcccagg	10	10	10	11	0	1	0	1	0	1	0	4	0	3	0	2	4	2	4	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:88811578G>A	ENST00000277865.4	-	13	1703	c.1607C>T	c.(1606-1608)aCa>aTa	p.T536I	GLUD1_ENST00000544149.1_Missense_Mutation_p.T403I|GLUD1_ENST00000537649.1_Missense_Mutation_p.T369I	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	536					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	ATAGGCAGCTGTTCTCAGGTC	0.438													A	88811578	G	A	88811578	3	1	364	1	0	0	0	0	1	0	0	0	6532	1377	48	2	73	2	GLUD1	10	88811578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42359	88811578	46723169	7965	31467											
MINPP1	9562	broad.mit.edu	37	chr10	89272941	89272941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaattaaaggtgttaaatCtccttggtgtgatgtttttg	9	17	11	4	0	1	1	0	1	1	0	2	1	1	1	1	3	0	3	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89272941C>A	ENST00000371996.4	+	3	937	c.896C>A	c.(895-897)tCt>tAt	p.S299Y	MINPP1_ENST00000371994.4_Intron|MINPP1_ENST00000536010.1_Missense_Mutation_p.S98Y	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	299					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		GGTGTTAAATCTCCTTGGTGT	0.313													A	89272941	C	A	89272941	3	1	364	1	0	0	0	0	1	0	0	0	9663	913	32	4	944	4	MINPP1	10	89272941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	461363	89272941	46261806	7966	31468											
ATAD1	84896	broad.mit.edu	37	chr10	89544250	89544250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttcatctataaagatgatgGatggttgtagctttatggca	11	16	10	4	0	2	2	1	1	1	1	2	3	2	3	0	3	1	4	0	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89544250G>A	ENST00000308448.7	-	5	938	c.560C>T	c.(559-561)tCc>tTc	p.S187F	ATAD1_ENST00000328142.3_Missense_Mutation_p.S187F|ATAD1_ENST00000400215.3_Missense_Mutation_p.S129F|ATAD1_ENST00000541004.1_Missense_Mutation_p.S187F	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	187						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		AAAGATGATGGATGGTTGTAG	0.348													A	89544250	G	A	89544250	3	1	364	1	0	0	0	0	1	0	0	0	1075	1174	41	2	549	2	ATAD1	10	89544250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271309	89544250	45990497	7967	31469											
PTEN	5728	broad.mit.edu	37	chr10	89692973	89692973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggcacaagaggccctaGatttctatggggaagtaagg	14	8	13	6	0	1	2	0	0	1	2	1	3	1	3	1	5	0	2	1	5	7	5	rs9651492		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:89692973G>T	ENST00000371953.3	+	5	1814	c.457G>T	c.(457-459)Gat>Tat	p.D153Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	153	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.D153Y(2)|p.D153N(1)|p.D153fs*27(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGAGGCCCTAGATTTCTATGG	0.378		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692973	G	T	89692973	3	4	364	1	0	0	0	0	1	0	0	0	12823	942	33	4	475	4	PTEN	10	89692973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148723	89692973	45841774	7968	31470											
LIPK	643414	broad.mit.edu	37	chr10	90486579	90486579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttatttcttactggggttatCcttatgaagagtatgatgtt	9	19	9	4	0	1	3	0	2	1	1	2	3	2	3	1	2	1	3	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90486579C>T	ENST00000404190.1	+	2	133	c.133C>T	c.(133-135)Cct>Tct	p.P45S		NM_001080518.1	NP_001073987.1	Q5VXJ0	LIPK_HUMAN	lipase, family member K	45					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	12		Colorectal(252;0.0381)		Colorectal(12;7.03e-05)|COAD - Colon adenocarcinoma(12;8.33e-05)		CTGGGGTTATCCTTATGAAGA	0.328													T	90486579	C	T	90486579	3	4	364	1	0	0	0	0	1	0	0	0	8888	855	30	2	139	2	LIPK	10	90486579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	793606	90486579	45048168	7969	31471											
LIPN	643418	broad.mit.edu	37	chr10	90526114	90526114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaattgtatttcattggaCattcacttggcactacaata	14	14	6	7	0	2	1	2	0	0	1	2	2	2	2	0	2	1	2	0	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90526114C>T	ENST00000404459.1	+	4	514	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	172					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		TTTCATTGGACATTCACTTGG	0.363													T	90526114	C	T	90526114	3	4	364	1	0	0	0	0	1	0	0	0	8889	478	17	2	528	2	LIPN	10	90526114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39535	90526114	45008633	7970	31472											
ACTA2	59	broad.mit.edu	37	chr10	90701149	90701149	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtccagcacgatgccTgggagacaattgggcgtgat	10	7	14	10	2	0	3	0	1	0	2	1	5	1	3	3	2	2	1	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90701149T>C	ENST00000458208.1	-	6	929		c.e6-2		STAMBPL1_ENST00000371927.3_Intron|ACTA2_ENST00000480297.1_Splice_Site|ACTA2_ENST00000224784.6_Splice_Site	NM_001141945.1	NP_001135417.1	P62736	ACTA_HUMAN	actin, alpha 2, smooth muscle, aorta						response to virus	cytosol	ATP binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(1)|urinary_tract(2)	17		Colorectal(252;0.0161)		Colorectal(12;0.000123)|COAD - Colon adenocarcinoma(12;0.00018)		GCACGATGCCTGGGAGACAAT	0.567													C	90701149	T	C	90701149	5	2	364	1	0	0	0	0	0	0	1	0	192	1594	55	3	696	3	ACTA2	10	90701149	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	175035	90701149	44833598	7971	31473											
FAS	355	broad.mit.edu	37	chr10	90770572	90770572	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caattccactaattgtttggGgtaagttcttgctttgttca	8	18	8	7	0	2	0	1	0	1	0	3	0	3	0	1	2	1	5	1	2	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90770572G>T	ENST00000355740.2	+	6	788	c.568G>T	c.(568-570)Gtg>Ttg	p.V190L	FAS_ENST00000313771.5_3'UTR|FAS_ENST00000352159.4_Splice_Site_p.V190L|FAS_ENST00000357339.2_Intron|FAS_ENST00000355279.2_Splice_Site_p.V190L	NM_000043.4|NM_152871.2|NM_152872.2	NP_000034.1|NP_690610.1|NP_690611.1	P25445	TNR6_HUMAN	Fas cell surface death receptor	190					activation of caspase activity|activation of pro-apoptotic gene products|anti-apoptosis|cellular response to mechanical stimulus|positive regulation of necrotic cell death	cytosol|extracellular region|integral to membrane|soluble fraction	identical protein binding|kinase binding			breast(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0161)		Colorectal(12;0.000136)|COAD - Colon adenocarcinoma(12;0.000193)		AATTGTTTGGGGTAAGTTCTT	0.363													T	90770572	G	T	90770572	5	4	364	1	0	0	0	0	0	0	1	0	5730	1246	43	4	590	4	FAS	10	90770572	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69423	90770572	44764175	7972	31474											
CH25H	9023	broad.mit.edu	37	chr10	90966941	90966941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagatgaccgggaagaaggGcgactgtaggagggcctccc	11	4	17	9	2	0	3	0	1	0	2	1	7	1	5	3	4	0	1	3	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90966941G>A	ENST00000371852.2	-	1	130	c.109C>T	c.(109-111)Ccc>Tcc	p.P37S		NM_003956.3	NP_003947.1	O95992	CH25H_HUMAN	cholesterol 25-hydroxylase	37					bile acid biosynthetic process|fatty acid biosynthetic process|sterol biosynthetic process	cytosol|endoplasmic reticulum membrane|integral to membrane	cholesterol 25-hydroxylase activity|iron ion binding			kidney(1)|large_intestine(2)|lung(3)|stomach(1)	7		Colorectal(252;0.0161)		GBM - Glioblastoma multiforme(2;0.000133)		GGGAAGAAGGGCGACTGTAGG	0.647													A	90966941	G	A	90966941	3	1	364	1	0	0	0	0	1	0	0	0	3337	1203	42	2	713	2	CH25H	10	90966941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	196369	90966941	44567806	7973	31475											
LIPA	3988	broad.mit.edu	37	chr10	90984859	90984859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaagtaccttaatgagaTgatctggtaatcgtcctaat	12	13	8	8	1	1	2	0	2	1	1	4	3	3	2	3	1	1	2	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984859T>C	ENST00000336233.5	-	6	987	c.665A>G	c.(664-666)cAt>cGt	p.H222R	LIPA_ENST00000456827.1_Missense_Mutation_p.H222R|LIPA_ENST00000371837.1_Missense_Mutation_p.H166R			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase	222					lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		CTTAATGAGATGATCTGGTAA	0.498													C	90984859	T	C	90984859	3	2	364	1	0	0	0	0	1	0	0	0	8880	1464	51	3	554	3	LIPA	10	90984859	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17918	90984859	44549888	7974	31476											
LIPA	3988	broad.mit.edu	37	chr10	90984986	90984986	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaaaatgctataaaacCtgtgagaacaaaggacagaa	19	7	9	6	0	0	3	0	2	0	2	0	5	0	4	1	1	3	1	1	1	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:90984986C>A	ENST00000336233.5	-	6	861		c.e6-1		LIPA_ENST00000456827.1_Splice_Site|LIPA_ENST00000371837.1_Splice_Site			P38571	LICH_HUMAN	lipase A, lysosomal acid, cholesterol esterase						lipid catabolic process	lysosome	lipase activity|sterol esterase activity			endometrium(1)|large_intestine(2)|lung(3)	6		Colorectal(252;0.0162)		GBM - Glioblastoma multiforme(2;0.00406)		GCTATAAAACCTGTGAGAACA	0.488													A	90984986	C	A	90984986	5	1	364	1	0	0	0	0	0	0	1	0	8880	695	24	4	681	4	LIPA	10	90984986	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	90984986	44549761	7975	31477											
IFIT2	3433	broad.mit.edu	37	chr10	91066262	91066262	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggactggcaatagcaagctaCcgtctggacaactggccacc	11	6	11	13	1	1	0	0	0	1	0	1	2	1	2	3	4	4	3	3	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066262C>A	ENST00000371826.3	+	2	718	c.549C>A	c.(547-549)taC>taA	p.Y183*	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	183					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				TAGCAAGCTACCGTCTGGACA	0.507													A	91066262	C	A	91066262	4	1	364	1	0	0	0	0	0	1	0	0	7581	518	18	4	555	4	IFIT2	10	91066262	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81276	91066262	44468485	7976	31478											
IFIT2	3433	broad.mit.edu	37	chr10	91066350	91066350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaaccagtaccttaaaGtcctcctggctctgaagctt	10	11	7	13	0	1	2	0	2	1	0	3	2	3	2	4	1	3	3	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066350G>A	ENST00000371826.3	+	2	806	c.637G>A	c.(637-639)Gtc>Atc	p.V213I	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	213					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				GTACCTTAAAGTCCTCCTGGC	0.502													A	91066350	G	A	91066350	3	1	364	1	0	0	0	0	1	0	0	0	7581	1029	36	2	643	2	IFIT2	10	91066350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88	91066350	44468397	7977	31479											
IFIT2	3433	broad.mit.edu	37	chr10	91066650	91066650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgggaaaagaaagttaCtggaactaataggacacgct	16	9	11	5	1	0	1	0	0	0	1	0	4	0	4	0	3	2	3	0	3	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91066650C>A	ENST00000371826.3	+	2	1106	c.937C>A	c.(937-939)Ctg>Atg	p.L313M	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron	NM_001547.4	NP_001538.4	P09913	IFIT2_HUMAN	interferon-induced protein with tetratricopeptide repeats 2	313					negative regulation of protein binding|response to virus|type I interferon-mediated signaling pathway		protein binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|skin(1)	12		Colorectal(252;0.0161)				AAGAAAGTTACTGGAACTAAT	0.443													A	91066650	C	A	91066650	3	1	364	1	0	0	0	0	1	0	0	0	7581	564	20	4	943	4	IFIT2	10	91066650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300	91066650	44468097	7978	31480											
IFIT3	3437	broad.mit.edu	37	chr10	91098617	91098617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctagatggtaacaacgagGcagccctggaatgcttacgg	12	7	12	10	2	0	1	0	0	0	1	0	3	0	2	2	4	5	3	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91098617G>A	ENST00000371818.4	+	2	385	c.205G>A	c.(205-207)Gca>Aca	p.A69T	LIPA_ENST00000371837.1_Intron|LIPA_ENST00000487618.1_Intron|IFIT3_ENST00000371811.4_Missense_Mutation_p.A69T	NM_001549.4	NP_001540.2	O14879	IFIT3_HUMAN	interferon-induced protein with tetratricopeptide repeats 3	69					type I interferon-mediated signaling pathway		protein binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(3)|skin(2)|urinary_tract(1)	15						TAACAACGAGGCAGCCCTGGA	0.428													A	91098617	G	A	91098617	3	1	364	1	0	0	0	0	1	0	0	0	7582	1203	42	2	220	2	IFIT3	10	91098617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31967	91098617	44436130	7979	31481											
IFIT1B	439996	broad.mit.edu	37	chr10	91144325	91144325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattccagggaaaaacttCtcaatgctttagagaaattg	14	11	7	9	0	1	1	1	0	1	1	3	3	2	2	2	1	2	1	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91144325C>A	ENST00000371809.3	+	2	1335	c.1255C>A	c.(1255-1257)Ctc>Atc	p.L419I	LIPA_ENST00000371837.1_Intron	NM_001010987.2	NP_001010987.1	Q5T764	IFT1B_HUMAN	interferon-induced protein with tetratricopeptide repeats 1B	419							binding			endometrium(2)|large_intestine(3)|lung(8)	13						GGAAAAACTTCTCAATGCTTT	0.373													A	91144325	C	A	91144325	3	1	364	1	0	0	0	0	1	0	0	0	7580	913	32	4	1261	4	IFIT1B	10	91144325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45708	91144325	44390422	7980	31482											
IFIT1	3434	broad.mit.edu	37	chr10	91163009	91163009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaatgataagatcagccaTatttcattttgaatctgcag	15	13	6	7	0	3	3	2	2	1	1	3	3	3	3	1	0	2	1	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91163009T>C	ENST00000546318.1	+	2	2171	c.884T>C	c.(883-885)aTa>aCa	p.I295T	LIPA_ENST00000371837.1_Intron|IFIT1_ENST00000371804.3_Missense_Mutation_p.I326T	NM_001270928.1|NM_001270929.1|NM_001270930.1	NP_001257857.1|NP_001257858.1|NP_001257859.1	P09914	IFIT1_HUMAN	interferon-induced protein with tetratricopeptide repeats 1	326					cellular response to exogenous dsRNA|intracellular transport of viral proteins in host cell|negative regulation of defense response to virus by host|negative regulation of helicase activity|negative regulation of protein binding|negative regulation of viral genome replication|positive regulation of viral genome replication|response to virus|type I interferon-mediated signaling pathway	cytoplasm	protein binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	15						AGATCAGCCATATTTCATTTT	0.418													C	91163009	T	C	91163009	3	2	364	1	0	0	0	0	1	0	0	0	7579	1406	49	3	983	3	IFIT1	10	91163009	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18684	91163009	44371738	7981	31483											
IFIT5	24138	broad.mit.edu	37	chr10	91177747	91177747	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctataggagaaaaaattCctggaacaaagctctcgaac	16	9	8	8	1	2	1	0	0	2	1	4	4	3	2	1	2	3	2	1	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91177747C>A	ENST00000371795.4	+	2	1004	c.791C>A	c.(790-792)tCc>tAc	p.S264Y	IFIT5_ENST00000416601.1_Missense_Mutation_p.S216Y	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	264							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AGAAAAAATTCCTGGAACAAA	0.433													A	91177747	C	A	91177747	3	1	364	1	0	0	0	0	1	0	0	0	7583	855	30	4	797	4	IFIT5	10	91177747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14738	91177747	44357000	7982	31484											
KIF20B	9585	broad.mit.edu	37	chr10	91484805	91484805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttcaagaacgagagataTtagaagaaaatgctgaacgt	17	9	10	5	2	1	5	1	1	0	4	1	7	1	5	0	0	4	2	0	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91484805T>C	ENST00000416354.1	+	15	1963	c.1891T>C	c.(1891-1893)Tta>Cta	p.L631L	KIF20B_ENST00000371728.3_Silent_p.L631L|KIF20B_ENST00000394289.2_Silent_p.L631L|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Silent_p.L631L			Q96Q89	KI20B_HUMAN	kinesin family member 20B	631					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ACGAGAGATATTAGAAGAAAA	0.358													C	91484805	T	C	91484805	2	2	364	1	0	0	0	0	0	0	0	1	8345	1490	52	3		3	KIF20B	10	91484805	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	307058	91484805	44049942	7983	31485											
KIF20B	9585	broad.mit.edu	37	chr10	91518496	91518496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagctgacagagaaagatAgtgaccttcaaaagtggcga	15	6	11	9	1	1	4	1	2	0	2	1	6	1	4	2	1	1	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:91518496A>G	ENST00000416354.1	+	27	4699	c.4627A>G	c.(4627-4629)Agt>Ggt	p.S1543G	KIF20B_ENST00000371728.3_Missense_Mutation_p.S1513G|KIF20B_ENST00000394289.2_Missense_Mutation_p.S1513G|KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000260753.4_Missense_Mutation_p.S1473G			Q96Q89	KI20B_HUMAN	kinesin family member 20B	1513					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						AGAGAAAGATAGTGACCTTCA	0.338													G	91518496	A	G	91518496	3	3	364	1	0	0	0	0	1	0	0	0	8345	420	15	3	4519	3	KIF20B	10	91518496	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33691	91518496	44016251	7984	31486											
HTR7	3363	broad.mit.edu	37	chr10	92508915	92508915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatccccagggtggtggCtgctttctgttctcgcttaa	5	14	12	10	1	2	1	0	1	2	0	4	2	3	1	2	3	1	4	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:92508915C>T	ENST00000371721.3	-	2	1218	c.976G>A	c.(976-978)Gcc>Acc	p.A326T	HTR7_ENST00000336152.3_Missense_Mutation_p.A326T|HTR7_ENST00000277874.6_Missense_Mutation_p.A326T|HTR7_ENST00000371719.2_Missense_Mutation_p.A326T			P34969	5HT7R_HUMAN	5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled	326					blood circulation|circadian rhythm	integral to plasma membrane	protein binding|serotonin receptor activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30					Eletriptan(DB00216)|Methysergide(DB00247)|Ziprasidone(DB00246)	AGGGTGGTGGCTGCTTTCTGT	0.527													T	92508915	C	T	92508915	3	4	364	1	0	0	0	0	1	0	0	0	7510	797	28	2	479	2	HTR7	10	92508915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	990419	92508915	43025832	7985	31487											
PCGF5	84333	broad.mit.edu	37	chr10	93008278	93008278	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttggacaatacattaGaggaaattatatttaagctg	16	12	10	3	0	0	1	0	0	0	1	0	4	0	3	0	3	2	2	0	3	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008278G>T	ENST00000336126.5	+	4	458	c.226G>T	c.(226-228)Gag>Tag	p.E76*	PCGF5_ENST00000543648.1_Nonsense_Mutation_p.E76*	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	76					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						CAATACATTAGAGGAAATTAT	0.353													T	93008278	G	T	93008278	4	4	364	1	0	0	0	0	0	1	0	0	11653	943	33	4	236	4	PCGF5	10	93008278	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	499363	93008278	42526469	7986	31488											
PCGF5	84333	broad.mit.edu	37	chr10	93008308	93008308	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttaagctggtccctggaCtacgagaacgtaagtggctc	10	11	11	9	2	0	1	0	0	0	1	2	3	1	2	1	3	3	3	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93008308C>T	ENST00000336126.5	+	4	488	c.256C>T	c.(256-258)Cta>Tta	p.L86L	PCGF5_ENST00000543648.1_Silent_p.L86L	NM_001257101.1|NM_032373.4	NP_001244030.1|NP_115749.2	Q86SE9	PCGF5_HUMAN	polycomb group ring finger 5	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|PcG protein complex	zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)	12						GGTCCCTGGACTACGAGAACG	0.353													T	93008308	C	T	93008308	2	4	364	1	0	0	0	0	0	0	0	1	11653	564	20	2		2	PCGF5	10	93008308	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30	93008308	42526439	7987	31489											
HECTD2	143279	broad.mit.edu	37	chr10	93260258	93260258	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgataaataattattggcaGctgcttcgtccagaagaggt	12	13	10	6	1	0	3	0	1	0	2	2	3	1	3	1	2	2	3	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260258G>T	ENST00000446394.1	+	20	2062		c.e20-1		HECTD2_ENST00000536715.1_Splice_Site|HECTD2_ENST00000298068.5_Splice_Site|HECTD2_ENST00000371667.1_Splice_Site	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATTATTGGCAGCTGCTTCGTC	0.363													T	93260258	G	T	93260258	5	4	364	1	0	0	0	0	0	0	1	0	7095	985	34	4	2048	4	HECTD2	10	93260258	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251950	93260258	42274489	7988	31490											
HECTD2	143279	broad.mit.edu	37	chr10	93260993	93260993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcttgatcttcaaaaGaagttgctacattttactac	11	17	4	9	0	3	2	1	1	2	1	4	2	4	2	1	0	4	2	1	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93260993G>T	ENST00000446394.1	+	21	2224	c.2124G>T	c.(2122-2124)aaG>aaT	p.K708N	HECTD2_ENST00000536715.1_Missense_Mutation_p.K293N|HECTD2_ENST00000298068.5_Missense_Mutation_p.K704N|HECTD2_ENST00000371667.1_Missense_Mutation_p.K354N	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	704	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						ATCTTCAAAAGAAGTTGCTAC	0.348													T	93260993	G	T	93260993	3	4	364	1	0	0	0	0	1	0	0	0	7095	933	33	4	2214	4	HECTD2	10	93260993	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	735	93260993	42273754	7989	31491											
PPP1R3C	5507	broad.mit.edu	37	chr10	93390465	93390465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatattgagacatgatttcAggggctttaatttattcaca	12	17	7	5	0	2	2	2	2	0	1	2	3	2	2	0	2	0	1	0	2	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93390465A>G	ENST00000238994.5	-	2	257	c.173T>C	c.(172-174)cTg>cCg	p.L58P		NM_005398.5	NP_005389.1	Q9UQK1	PPR3C_HUMAN	protein phosphatase 1, regulatory subunit 3C	58							protein serine/threonine phosphatase activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				ACATGATTTCAGGGGCTTTAA	0.448													G	93390465	A	G	93390465	3	3	364	1	0	0	0	0	1	0	0	0	12455	188	7	3	784	3	PPP1R3C	10	93390465	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	129472	93390465	42144282	7990	31492											
TNKS2	80351	broad.mit.edu	37	chr10	93590921	93590921	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgatgttgttgaagtagtgGtgaaacatgaagcaaaggta	15	11	13	2	0	0	4	0	4	0	0	0	4	0	4	0	2	2	5	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93590921G>T	ENST00000371627.4	+	11	1637	c.1258G>T	c.(1258-1260)Gtg>Ttg	p.V420L		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	420					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TGAAGTAGTGGTGAAACATGA	0.353													T	93590921	G	T	93590921	3	4	364	1	0	0	0	0	1	0	0	0	16421	1261	44	4	1300	4	TNKS2	10	93590921	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200456	93590921	41943826	7991	31493											
TNKS2	80351	broad.mit.edu	37	chr10	93619382	93619382	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtccagttcacaaagaCagatcttgttacatttgcca	11	12	9	9	0	2	2	1	0	1	2	3	2	3	2	2	1	2	2	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93619382C>T	ENST00000371627.4	+	25	3637	c.3258C>T	c.(3256-3258)gaC>gaT	p.D1086D		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	1086	PARP catalytic.				positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				TTCACAAAGACAGATCTTGTT	0.373													T	93619382	C	T	93619382	2	4	364	1	0	0	0	0	0	0	0	1	16421	477	17	2		2	TNKS2	10	93619382	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28461	93619382	41915365	7992	31494											
BTAF1	9044	broad.mit.edu	37	chr10	93743997	93743997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagctgtgcagccgcgtttaCttgatatcctttcagaacat	9	14	8	10	2	1	2	1	1	0	1	2	2	2	2	2	0	5	3	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93743997C>T	ENST00000265990.6	+	19	2571	c.2263C>T	c.(2263-2265)Ctt>Ttt	p.L755F	BTAF1_ENST00000471217.1_3'UTR	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	755					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCCGCGTTTACTTGATATCCT	0.338													T	93743997	C	T	93743997	3	4	364	1	0	0	0	0	1	0	0	0	1545	565	20	2	2337	2	BTAF1	10	93743997	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124615	93743997	41790750	7993	31495											
BTAF1	9044	broad.mit.edu	37	chr10	93768689	93768689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagtccatctgcattctagCaggagatcattgtcataggt	11	12	9	9	0	4	1	2	0	2	1	5	2	5	1	1	2	2	2	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93768689C>T	ENST00000265990.6	+	27	4225	c.3917C>T	c.(3916-3918)gCa>gTa	p.A1306V	BTAF1_ENST00000544642.1_Missense_Mutation_p.A134V	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1306	Helicase ATP-binding.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				TGCATTCTAGCAGGAGATCAT	0.328													T	93768689	C	T	93768689	3	4	364	1	0	0	0	0	1	0	0	0	1545	710	25	2	4023	2	BTAF1	10	93768689	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24692	93768689	41766058	7994	31496											
BTAF1	9044	broad.mit.edu	37	chr10	93784717	93784717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtcagaggcattccattGtttcccggtaagtggcttct	6	14	11	10	1	2	1	1	0	1	1	4	1	4	1	2	4	0	4	2	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93784717G>A	ENST00000265990.6	+	35	5376	c.5068G>A	c.(5068-5070)Gtt>Att	p.V1690I	BTAF1_ENST00000544642.1_Missense_Mutation_p.V518I	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1690	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GCATTCCATTGTTTCCCGGTA	0.373													A	93784717	G	A	93784717	3	1	364	1	0	0	0	0	1	0	0	0	1545	1377	48	2	5206	2	BTAF1	10	93784717	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16028	93784717	41750030	7995	31497											
BTAF1	9044	broad.mit.edu	37	chr10	93786957	93786957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaataatggggttgcagaAattcaagatgaacatagcga	19	8	10	4	1	1	3	1	1	0	2	1	4	1	3	0	2	3	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93786957A>G	ENST00000265990.6	+	37	5614	c.5306A>G	c.(5305-5307)aAa>aGa	p.K1769R	BTAF1_ENST00000544642.1_Missense_Mutation_p.K597R	NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	1769	Helicase C-terminal.				negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				GGGTTGCAGAAATTCAAGATG	0.378													G	93786957	A	G	93786957	3	3	364	1	0	0	0	0	1	0	0	0	1545	14	1	3	5452	3	BTAF1	10	93786957	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2240	93786957	41747790	7996	31498											
CPEB3	22849	broad.mit.edu	37	chr10	93940768	93940768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatgatggaaatttatccCcatgcgtcctaaaaaataaa	16	11	7	7	1	0	1	0	1	0	0	2	3	2	3	3	2	1	0	3	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93940768C>T	ENST00000412050.4	-	4	1193	c.1105G>A	c.(1105-1107)Ggg>Agg	p.G369R	CPEB3_ENST00000265997.4_Missense_Mutation_p.G392R	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	392							nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				AAATTTATCCCCATGCGTCCt	0.259													T	93940768	C	T	93940768	3	4	364	1	0	0	0	0	1	0	0	0	3833	623	22	2	977	2	CPEB3	10	93940768	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153811	93940768	41593979	7997	31499											
CPEB3	22849	broad.mit.edu	37	chr10	93999628	93999628	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggctgctggtggtgctgGgtctgcgccaggccgatctg	2	9	19	11	3	2	0	0	0	2	0	2	1	2	0	2	6	3	3	2	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:93999628G>T	ENST00000412050.4	-	2	568	c.480C>A	c.(478-480)acC>acA	p.T160T	CPEB3_ENST00000265997.4_Silent_p.T160T	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	160	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GGTGGTGCTGGGTCTGCGCCA	0.711													T	93999628	G	T	93999628	2	4	364	1	0	0	0	0	0	0	0	1	3833	1219	43	4		4	CPEB3	10	93999628	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58860	93999628	41535119	7998	31500											
MARCH5	54708	broad.mit.edu	37	chr10	94109579	94109579	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtagtgttaactctaatttAcaaaggacaatcttggtaag	15	13	8	5	0	2	0	0	0	2	0	2	1	2	1	0	2	2	3	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94109579A>G	ENST00000358935.2	+	5	1037	c.705A>G	c.(703-705)ttA>ttG	p.L235L		NM_017824.4	NP_060294.1	Q9NX47	MARH5_HUMAN	membrane-associated ring finger (C3HC4) 5	235					cell aging|protein autoubiquitination|protein localization in mitochondrion|protein polyubiquitination|regulation of mitochondrial fission	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	GTPase binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACTCTAATTTACAAAGGACAA	0.343													G	94109579	A	G	94109579	2	3	364	1	0	0	0	0	0	0	0	1	9379	388	14	3		3	MARCH5	10	94109579	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	109951	94109579	41425168	7999	31501											
IDE	3416	broad.mit.edu	37	chr10	94214257	94214257	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaaggggaaacagtggcaGaccacgcttgaattcggtca	13	6	12	10	2	1	2	1	1	0	1	2	3	1	3	1	4	1	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94214257G>A	ENST00000265986.6	-	25	3060	c.3004C>T	c.(3004-3006)Ctg>Ttg	p.L1002L	IDE_ENST00000496903.1_5'UTR|IDE_ENST00000371581.5_Silent_p.L447L	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	1002					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AACAGTGGCAGACCACGCTTG	0.413													A	94214257	G	A	94214257	2	1	364	1	0	0	0	0	0	0	0	1	7551	933	33	2		2	IDE	10	94214257	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104678	94214257	41320490	8000	31502											
KIF11	3832	broad.mit.edu	37	chr10	94399627	94399627	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgaaaatatacagaaacCacttagtagtgtccaggaaa	17	9	9	6	0	0	2	0	1	0	1	1	3	1	3	2	1	2	1	2	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94399627C>A	ENST00000260731.3	+	17	2327	c.2237C>A	c.(2236-2238)cCa>cAa	p.P746Q		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	746					blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATACAGAAACCACTTAGTAGT	0.323													A	94399627	C	A	94399627	3	1	364	1	0	0	0	0	1	0	0	0	8330	594	21	4	2303	4	KIF11	10	94399627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185370	94399627	41135120	8001	31503											
HHEX	3087	broad.mit.edu	37	chr10	94452481	94452481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaacctggtttcagaatcGacgcgctaaatggaggagac	14	7	11	9	3	1	2	1	0	0	2	2	5	1	3	1	3	1	2	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:94452481G>A	ENST00000282728.5	+	3	2362	c.563G>A	c.(562-564)cGa>cAa	p.R188Q	HHEX_ENST00000472590.2_Missense_Mutation_p.R16Q|HHEX_ENST00000492654.2_Missense_Mutation_p.R16Q	NM_002729.4	NP_002720.1	Q03014	HHEX_HUMAN	hematopoietically expressed homeobox	188					anterior/posterior pattern formation|B cell differentiation|cell cycle|DNA conformation change|negative regulation of angiogenesis|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of vascular endothelial growth factor receptor signaling pathway|poly(A)+ mRNA export from nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein localization to nucleus|Wnt receptor signaling pathway	cytoplasm|nucleus|protein-DNA complex	DNA bending activity|eukaryotic initiation factor 4E binding|protein homodimerization activity|repressing transcription factor binding|sequence-specific DNA binding|TBP-class protein binding|transcription regulatory region DNA binding			kidney(2)|large_intestine(2)|lung(5)|ovary(1)	10						TTTCAGAATCGACGCGCTAAA	0.478													A	94452481	G	A	94452481	3	1	364	1	0	0	0	0	1	0	0	0	7146	1058	37	1	573	1	HHEX	10	94452481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52854	94452481	41082266	8002	31504											
MYOF	26509	broad.mit.edu	37	chr10	95111211	95111211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttacaagaacatcccCgcaggctttgtctccattca	10	11	7	13	1	2	1	1	0	1	1	4	1	3	1	3	1	3	4	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95111211C>T	ENST00000371501.4	-	34	3903	c.3781G>A	c.(3781-3783)Ggg>Agg	p.G1261R	MYOF_ENST00000371502.4_Missense_Mutation_p.G1261R|MYOF_ENST00000358334.5_Missense_Mutation_p.G1248R|MYOF_ENST00000359263.4_Missense_Mutation_p.G1261R			Q9NZM1	MYOF_HUMAN	myoferlin	1261					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGAACATCCCCGCAGGCTTTG	0.453													T	95111211	C	T	95111211	3	4	364	1	0	0	0	0	1	0	0	0	10165	652	23	1	2488	1	MYOF	10	95111211	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	658730	95111211	40423536	8003	31505											
MYOF	26509	broad.mit.edu	37	chr10	95157186	95157186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgattccactctgggtttgCatttttctcaattatgtttg	6	20	7	8	0	2	1	1	1	2	0	4	1	3	1	1	1	1	3	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95157186C>T	ENST00000371501.4	-	14	1371	c.1249G>A	c.(1249-1251)Gca>Aca	p.A417T	MYOF_ENST00000371502.4_Missense_Mutation_p.A417T|MYOF_ENST00000358334.5_Missense_Mutation_p.A417T|MYOF_ENST00000359263.4_Missense_Mutation_p.A417T|MYOF_ENST00000371489.1_Missense_Mutation_p.A417T			Q9NZM1	MYOF_HUMAN	myoferlin	417	C2 3.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCTGGGTTTGCATTTTTCTCA	0.294													T	95157186	C	T	95157186	3	4	364	1	0	0	0	0	1	0	0	0	10165	710	25	2	5100	2	MYOF	10	95157186	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45975	95157186	40377561	8004	31506											
MYOF	26509	broad.mit.edu	37	chr10	95169331	95169331	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccaggccgttgctaccTggaagtcctgtggcttattt	7	12	11	11	2	0	0	0	0	0	0	1	1	1	1	4	3	3	3	4	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95169331T>C	ENST00000371501.4	-	6	721	c.599A>G	c.(598-600)cAg>cGg	p.Q200R	MYOF_ENST00000371502.4_Splice_Site_p.Q200R|MYOF_ENST00000358334.5_Splice_Site_p.Q200R|MYOF_ENST00000359263.4_Splice_Site_p.Q200R|MYOF_ENST00000371489.1_Splice_Site_p.Q200R			Q9NZM1	MYOF_HUMAN	myoferlin	200	C2 2.|Necessary for interaction with EHD2.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CGTTGCTACCTGGAAGTCCTG	0.502													C	95169331	T	C	95169331	5	2	364	1	0	0	0	0	0	0	1	0	10165	1594	55	3	5782	3	MYOF	10	95169331	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12145	95169331	40365416	8005	31507											
PDE6C	5146	broad.mit.edu	37	chr10	95385337	95385337	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattgcctccaggaattCtacgatgaatggccaatcaa	12	11	8	10	1	3	2	1	2	2	0	4	4	4	3	3	2	2	0	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95385337C>A	ENST00000371447.3	+	5	1008	c.870C>A	c.(868-870)ttC>ttA	p.F290L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	290	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TCCAGGAATTCTACGATGAAT	0.373													A	95385337	C	A	95385337	3	1	364	1	0	0	0	0	1	0	0	0	11723	912	32	4	888	4	PDE6C	10	95385337	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216006	95385337	40149410	8006	31508											
PDE6C	5146	broad.mit.edu	37	chr10	95394638	95394638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaggatggaaaacctttcGatgagcatgatgaatacatt	15	10	11	5	1	0	3	0	3	0	0	1	7	0	6	1	3	3	1	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95394638G>A	ENST00000371447.3	+	9	1381	c.1243G>A	c.(1243-1245)Gat>Aat	p.D415N		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	415	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAAACCTTTCGATGAGCATGA	0.363													A	95394638	G	A	95394638	3	1	364	1	0	0	0	0	1	0	0	0	11723	1058	37	1	1277	1	PDE6C	10	95394638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9301	95394638	40140109	8007	31509											
PDE6C	5146	broad.mit.edu	37	chr10	95399908	95399908	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttacagagcacggattgAttaaatgtggaatacgactg	13	10	10	8	2	0	2	0	1	0	1	0	5	0	4	1	2	3	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95399908A>C	ENST00000371447.3	+	12	1702	c.1564A>C	c.(1564-1566)Att>Ctt	p.I522L		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	522					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				GCACGGATTGATTAAATGTGG	0.408													C	95399908	A	C	95399908	3	2	364	1	0	0	0	0	1	0	0	0	11723	333	12	5	1610	5	PDE6C	10	95399908	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5270	95399908	40134839	8008	31510											
PDE6C	5146	broad.mit.edu	37	chr10	95418727	95418727	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggaagaagaagccatcaaAtatgtaactgttgatccaac	17	8	8	8	1	1	3	1	1	0	2	2	4	2	4	2	1	3	2	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95418727A>G	ENST00000371447.3	+	17	2244	c.2106A>G	c.(2104-2106)aaA>aaG	p.K702K		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	702					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				AAGCCATCAAATATGTAACTG	0.318													G	95418727	A	G	95418727	2	3	364	1	0	0	0	0	0	0	0	1	11723	98	4	3		3	PDE6C	10	95418727	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18819	95418727	40116020	8009	31511											
PDE6C	5146	broad.mit.edu	37	chr10	95422400	95422400	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtacttttgtatataaGgtaagtaagcaaattatttg	13	18	8	2	0	0	0	0	0	0	0	0	0	0	0	0	1	2	6	0	1	8	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95422400G>A	ENST00000371447.3	+	20	2505	c.2367G>A	c.(2365-2367)aaG>aaA	p.K789K	PDE6C_ENST00000475427.2_3'UTR	NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	789					visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTGTATATAAGGTAAGTAAGC	0.289													A	95422400	G	A	95422400	5	1	364	1	0	0	0	0	0	0	1	0	11723	1014	35	2	2445	2	PDE6C	10	95422400	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3673	95422400	40112347	8010	31512											
PLCE1	51196	broad.mit.edu	37	chr10	95791321	95791321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaaatcagtcagtgatcaTagagacaggcagagcacacc	16	5	11	9	0	3	3	3	1	0	2	3	5	3	4	1	2	1	2	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:95791321T>C	ENST00000371380.3	+	1	753	c.518T>C	c.(517-519)aTa>aCa	p.I173T	PLCE1_ENST00000260766.3_Missense_Mutation_p.I173T			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TCAGTGATCATAGAGACAGGC	0.433													C	95791321	T	C	95791321	3	2	364	1	0	0	0	0	1	0	0	0	12111	1406	49	3	520	3	PLCE1	10	95791321	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	368921	95791321	39743426	8011	31513											
PLCE1	51196	broad.mit.edu	37	chr10	96005763	96005763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgagcaatccaaagaataCgactctcatggttcagagga	14	10	9	8	1	2	3	2	1	1	2	4	5	3	4	1	2	2	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96005763C>T	ENST00000371380.3	+	7	2716	c.2481C>T	c.(2479-2481)taC>taT	p.Y827Y	PLCE1_ENST00000371375.1_Silent_p.Y519Y|PLCE1_ENST00000371385.3_Silent_p.Y519Y|PLCE1_ENST00000260766.3_Silent_p.Y827Y			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CCAAAGAATACGACTCTCATG	0.443													T	96005763	C	T	96005763	2	4	364	1	0	0	0	0	0	0	0	1	12111	547	19	1		1	PLCE1	10	96005763	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214442	96005763	39528984	8012	31514											
PLCE1	51196	broad.mit.edu	37	chr10	96006077	96006077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggattaagtagcctgaCggaaggggtcttggatcttt	8	13	14	6	1	2	1	0	1	2	0	2	4	2	4	1	5	2	2	1	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96006077C>T	ENST00000371380.3	+	7	3030	c.2795C>T	c.(2794-2796)aCg>aTg	p.T932M	PLCE1_ENST00000371375.1_Missense_Mutation_p.T624M|PLCE1_ENST00000371385.3_Missense_Mutation_p.T624M|PLCE1_ENST00000260766.3_Missense_Mutation_p.T932M			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				AGTAGCCTGACGGAAGGGGTC	0.478													T	96006077	C	T	96006077	3	4	364	1	0	0	0	0	1	0	0	0	12111	536	19	1	3107	1	PLCE1	10	96006077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314	96006077	39528670	8013	31515											
PLCE1	51196	broad.mit.edu	37	chr10	96012083	96012083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcacaggaggatggacGgtatgaaggcccaactttgg	10	10	13	8	1	2	1	1	1	1	0	2	4	2	4	1	6	1	1	1	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96012083G>A	ENST00000371380.3	+	8	3342	c.3107G>A	c.(3106-3108)cGg>cAg	p.R1036Q	PLCE1_ENST00000371375.1_Missense_Mutation_p.R728Q|PLCE1_ENST00000371385.3_Missense_Mutation_p.R728Q|PLCE1_ENST00000260766.3_Missense_Mutation_p.R1036Q			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				GAGGATGGACGGTATGAAGGC	0.493													A	96012083	G	A	96012083	3	1	364	1	0	0	0	0	1	0	0	0	12111	1116	39	1	3423	1	PLCE1	10	96012083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6006	96012083	39522664	8014	31516											
PLCE1	51196	broad.mit.edu	37	chr10	96068407	96068407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctagtttattcattaacaGcagaaggatggaagaaaatt	16	13	8	4	0	2	2	1	0	1	2	2	4	2	4	0	2	2	2	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96068407G>A	ENST00000371380.3	+	26	6189	c.5954G>A	c.(5953-5955)aGc>aAc	p.S1985N	PLCE1_ENST00000371375.1_Missense_Mutation_p.S1677N|PLCE1_ENST00000371385.3_Missense_Mutation_p.S1677N|PLCE1_ENST00000260766.3_Missense_Mutation_p.S1985N			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TTCATTAACAGCAGAAGGATG	0.393													A	96068407	G	A	96068407	3	1	364	1	0	0	0	0	1	0	0	0	12111	971	34	2	6342	2	PLCE1	10	96068407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56324	96068407	39466340	8015	31517											
NOC3L	64318	broad.mit.edu	37	chr10	96109022	96109022	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacctctggcctaacttcGtaatttctgcccttcacaaa	9	13	4	15	1	4	0	2	0	2	0	5	0	4	0	3	1	2	1	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96109022G>A	ENST00000371361.3	-	10	1342	c.1242C>T	c.(1240-1242)taC>taT	p.Y414Y	NOC3L_ENST00000371350.1_Silent_p.Y414Y|NOC3L_ENST00000543788.1_Silent_p.Y152Y|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	414						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				GCCTAACTTCGTAATTTCTGC	0.323													A	96109022	G	A	96109022	2	1	364	1	0	0	0	0	0	0	0	1	10590	1140	40	1		1	NOC3L	10	96109022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40615	96109022	39425725	8016	31518											
NOC3L	64318	broad.mit.edu	37	chr10	96112807	96112807	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaacgtaattctttcaatTttttaatctgttaaagaaat	15	18	4	4	1	3	2	1	0	2	2	3	2	3	2	0	0	1	2	0	0	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96112807T>G	ENST00000371361.3	-	7	804	c.704A>C	c.(703-705)aAa>aCa	p.K235T	NOC3L_ENST00000371350.1_Missense_Mutation_p.K235T|NOC3L_ENST00000463649.1_5'UTR	NM_022451.9	NP_071896.8	Q8WTT2	NOC3L_HUMAN	nucleolar complex associated 3 homolog (S. cerevisiae)	235						nuclear speck|nucleolus	binding			endometrium(3)|large_intestine(17)|lung(5)|ovary(1)|skin(2)|stomach(1)	29		Colorectal(252;0.0897)				TTCTTTCAATTTTTTAATCTG	0.353													G	96112807	T	G	96112807	3	3	364	1	0	0	0	0	1	0	0	0	10590	1841	64	5	1758	5	NOC3L	10	96112807	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3785	96112807	39421940	8017	31519											
TBC1D12	23232	broad.mit.edu	37	chr10	96162399	96162399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggaggatgccggagcctGctcgggaagaaaccccaagt	10	5	14	12	3	0	1	0	0	0	1	2	5	1	5	5	4	4	1	5	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96162399G>A	ENST00000225235.4	+	1	139	c.29G>A	c.(28-30)tGc>tAc	p.C10Y		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	10						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				GCCGGAGCCTGCTCGGGAAGA	0.692													A	96162399	G	A	96162399	3	1	364	1	0	0	0	0	1	0	0	0	15698	1319	46	2	31	2	TBC1D12	10	96162399	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49592	96162399	39372348	8018	31520											
TBC1D12	23232	broad.mit.edu	37	chr10	96234514	96234514	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagccgctttctaccacTgccttgattcttgaggatcg	6	15	9	11	2	2	3	0	3	2	0	3	4	2	4	3	1	3	1	3	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96234514T>C	ENST00000225235.4	+	3	1295	c.1185T>C	c.(1183-1185)acT>acC	p.T395T		NM_015188.1	NP_056003.1	O60347	TBC12_HUMAN	TBC1 domain family, member 12	395						intracellular	Rab GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	20		Colorectal(252;0.0429)				TTTCTACCACTGCCTTGATTC	0.353													C	96234514	T	C	96234514	2	2	364	1	0	0	0	0	0	0	0	1	15698	1567	55	3		3	TBC1D12	10	96234514	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	72115	96234514	39300233	8019	31521											
HELLS	3070	broad.mit.edu	37	chr10	96317912	96317912	+	Frame_Shift_Del	DEL	A	A	-																															acaggaacagaagaagaaagAaaaattggagagaaaaaagg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96317912delA	ENST00000348459.5	+	4	398	c.293delA	c.(292-294)gaafs	p.E98fs	HELLS_ENST00000371332.4_Frame_Shift_Del_p.E98fs|HELLS_ENST00000462057.1_3'UTR|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394044.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394045.1_Frame_Shift_Del_p.E98fs|HELLS_ENST00000394036.1_Frame_Shift_Del_p.E98fs	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	98					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		AAGAAGAAAGAAAAATTGGAG	0.269													-	96317912	A	-	96317912	7	5	364	1	0	1	0	1	0	0	0	0	7101	246	9	0	307	0	HELLS	10	96317912	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	83398	96317912	39216835	8020	31522											
HELLS	3070	broad.mit.edu	37	chr10	96356854	96356854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctagagttgttgttagatcGaagtgatcttattggtaagt	10	17	11	3	1	2	3	0	1	2	2	3	4	2	3	0	1	0	4	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96356854G>A	ENST00000348459.5	+	21	2513	c.2408G>A	c.(2407-2409)cGa>cAa	p.R803Q	HELLS_ENST00000371332.4_Missense_Mutation_p.R849Q|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000394045.1_Missense_Mutation_p.R705Q|HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	803					cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		TTGTTAGATCGAAGTGATCTT	0.299													A	96356854	G	A	96356854	3	1	364	1	0	0	0	0	1	0	0	0	7101	1058	37	1	2490	1	HELLS	10	96356854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38942	96356854	39177893	8021	31523											
CYP2C9	1559	broad.mit.edu	37	chr10	96701682	96701682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acccatagtggtgctgcatgGatatgaagcagtgaaggaag	13	8	14	6	0	0	2	0	2	0	0	0	4	0	4	1	3	3	3	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:96701682G>A	ENST00000260682.6	+	2	248	c.236G>A	c.(235-237)gGa>gAa	p.G79E	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	79					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GTGCTGCATGGATATGAAGCA	0.463													A	96701682	G	A	96701682	3	1	364	1	0	0	0	0	1	0	0	0	4201	1174	41	2	242	2	CYP2C9	10	96701682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	344828	96701682	38833065	8022	31524											
PDLIM1	9124	broad.mit.edu	37	chr10	97028547	97028547	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacttacctggggttcagaGgctaaattcatcttgtatgg	10	13	11	7	0	3	1	2	0	1	1	3	2	3	1	1	4	2	3	1	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97028547G>T	ENST00000329399.6	-	3	429	c.321C>A	c.(319-321)gcC>gcA	p.A107A	PDLIM1_ENST00000477757.1_5'UTR	NM_020992.2	NP_066272.1	O00151	PDLI1_HUMAN	PDZ and LIM domain 1	107					response to oxidative stress	cytoplasm|cytoskeleton	zinc ion binding			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|skin(2)	10		Colorectal(252;0.083)		Epithelial(162;1.64e-06)|all cancers(201;3.71e-05)		GGGGTTCAGAGGCTAAATTCA	0.488													T	97028547	G	T	97028547	2	4	364	1	0	0	0	0	0	0	0	1	11755	987	35	4		4	PDLIM1	10	97028547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326865	97028547	38506200	8023	31525											
SORBS1	10580	broad.mit.edu	37	chr10	97078130	97078130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaacgatatctccatcgCggagttccaactcatcatca	12	10	5	14	3	5	0	4	0	1	0	8	2	6	1	2	1	2	1	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97078130C>T	ENST00000371247.2	-	32	3947	c.3758G>A	c.(3757-3759)cGc>cAc	p.R1253H	SORBS1_ENST00000306402.6_Missense_Mutation_p.R742H|SORBS1_ENST00000607232.1_Missense_Mutation_p.R1255H|SORBS1_ENST00000371227.4_Missense_Mutation_p.R1227H|SORBS1_ENST00000353505.5_Missense_Mutation_p.R866H|SORBS1_ENST00000371249.2_Missense_Mutation_p.R777H|SORBS1_ENST00000354106.3_Missense_Mutation_p.R965H|SORBS1_ENST00000371245.3_Missense_Mutation_p.R866H|SORBS1_ENST00000371239.1_Missense_Mutation_p.R772H|SORBS1_ENST00000361941.3_Missense_Mutation_p.R1253H|SORBS1_ENST00000347291.4_Missense_Mutation_p.R807H|SORBS1_ENST00000393949.1_Missense_Mutation_p.R965H|SORBS1_ENST00000277982.5_Missense_Mutation_p.R1112H|SORBS1_ENST00000371246.2_Missense_Mutation_p.R1112H|SORBS1_ENST00000371241.1_Missense_Mutation_p.R645H			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1253	SH3 3.				focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		ATCTCCATCGCGGAGTTCCAA	0.353													T	97078130	C	T	97078130	3	4	364	1	0	0	0	0	1	0	0	0	15021	768	27	1	128	1	SORBS1	10	97078130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49583	97078130	38456617	8024	31526											
SORBS1	10580	broad.mit.edu	37	chr10	97096671	97096671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggatgcctgaagatggCgtgtggacaccaccgtctcc	7	9	14	11	2	1	2	0	1	1	1	2	4	1	4	4	4	1	0	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97096671C>T	ENST00000371247.2	-	30	3435	c.3246G>A	c.(3244-3246)acG>acA	p.T1082T	SORBS1_ENST00000306402.6_Intron|SORBS1_ENST00000607232.1_Intron|SORBS1_ENST00000371227.4_Silent_p.T1036T|SORBS1_ENST00000353505.5_Intron|SORBS1_ENST00000371249.2_Intron|SORBS1_ENST00000354106.3_Intron|SORBS1_ENST00000371245.3_Intron|SORBS1_ENST00000371239.1_Intron|SORBS1_ENST00000361941.3_Silent_p.T1082T|SORBS1_ENST00000347291.4_Intron|SORBS1_ENST00000393949.1_Intron|SORBS1_ENST00000277982.5_Intron|SORBS1_ENST00000371246.2_Intron|SORBS1_ENST00000371241.1_Intron			Q9BX66	SRBS1_HUMAN	sorbin and SH3 domain containing 1	1082					focal adhesion assembly|glucose transport|insulin receptor signaling pathway|muscle contraction|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|stress fiber assembly	centrosome|cytosol|focal adhesion|membrane raft|nucleus|stress fiber|zonula adherens	actin binding|insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(19)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.0429)		Epithelial(162;1.7e-06)|all cancers(201;6.52e-05)		CTGAAGATGGCGTGTGGACAC	0.552													T	97096671	C	T	97096671	2	4	364	1	0	0	0	0	0	0	0	1	15021	755	27	1		1	SORBS1	10	97096671	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18541	97096671	38438076	8025	31527											
ENTPD1	953	broad.mit.edu	37	chr10	97602166	97602166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttacctgactgattgcatgGaaagagctagggaagtgatt	12	12	12	5	0	0	4	0	3	0	1	0	6	0	6	1	2	3	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97602166G>A	ENST00000371207.3	+	4	427	c.364G>A	c.(364-366)Gaa>Aaa	p.E122K	ENTPD1_ENST00000543964.1_Missense_Mutation_p.E2K|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000539125.1_Intron|ENTPD1_ENST00000453258.2_Missense_Mutation_p.E117K|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000371203.5_Intron|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.E110K	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	110					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGATTGCATGGAAAGAGCTAG	0.433													A	97602166	G	A	97602166	3	1	364	1	0	0	0	0	1	0	0	0	5179	1175	41	2	439	2	ENTPD1	10	97602166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	505495	97602166	37932581	8026	31528											
CC2D2B	387707	broad.mit.edu	37	chr10	97769581	97769581	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattatttattttcataGgatcactgtctcaagagctg	14	15	6	6	0	3	1	3	0	1	1	4	2	3	2	0	1	1	1	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97769581G>T	ENST00000371198.2	+	12	1334		c.e12-1		ENTPD1-AS1_ENST00000451364.1_RNA|RP11-690P14.4_ENST00000475252.2_Splice_Site|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CC2D2B_ENST00000410012.2_Splice_Site|ENTPD1-AS1_ENST00000452728.1_RNA|CC2D2B_ENST00000344386.3_Splice_Site			Q6DHV5	C2D2B_HUMAN	coiled-coil and C2 domain containing 2B											large_intestine(1)|lung(7)|ovary(1)|urinary_tract(1)	10		Colorectal(252;0.158)		Epithelial(162;7.08e-08)|all cancers(201;2.71e-06)		tattttCATAGGATCACTGTC	0.308													T	97769581	G	T	97769581	5	4	364	1	0	0	0	0	0	0	1	0	2755	1014	35	4	27	4	CC2D2B	10	97769581	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167415	97769581	37765166	8027	31529											
CCNJ	54619	broad.mit.edu	37	chr10	97817680	97817680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattccagacagcctcccaGccatcacggccagttcactt	9	9	7	16	1	2	1	2	0	0	1	4	1	4	1	5	1	2	2	5	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97817680G>A	ENST00000265992.5	+	6	1168	c.801G>A	c.(799-801)caG>caA	p.Q267Q	ENTPD1-AS1_ENST00000451364.1_RNA|CCNJ_ENST00000465148.2_Silent_p.Q278Q|ENTPD1-AS1_ENST00000458228.1_RNA|ENTPD1-AS1_ENST00000427846.1_RNA|ENTPD1-AS1_ENST00000454638.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|CCNJ_ENST00000403870.3_Silent_p.Q266Q|CCNJ_ENST00000534974.1_Silent_p.Q267Q|ENTPD1-AS1_ENST00000452728.1_RNA	NM_001134375.1|NM_001134376.1|NM_019084.4	NP_001127847.1|NP_001127848.1|NP_061957.2	Q5T5M9	CCNJ_HUMAN	cyclin J	267						nucleus				breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	11				Epithelial(162;6.1e-08)|all cancers(201;2.32e-06)		CAGCCTCCCAGCCATCACGGC	0.498													A	97817680	G	A	97817680	2	1	364	1	0	0	0	0	0	0	0	1	2958	962	34	2		2	CCNJ	10	97817680	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48099	97817680	37717067	8028	31530											
ZNF518A	9849	broad.mit.edu	37	chr10	97917326	97917326	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgctagttcaggtttcatgaAgactgctgtactaggaccta	10	12	10	9	1	2	2	2	1	0	1	2	3	2	3	1	2	2	5	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917326A>G	ENST00000534948.1	+	0	2104							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		GGTTTCATGAAGACTGCTGTA	0.423													G	97917326	A	G	97917326	1	3	364	0	1	0	0	0	0	0	0	0	18063	72	3	3		3	ZNF518A	10	97917326	RNA	SNP	A	TCGA-DU-6392-01A-11D-1705-08	99646	97917326	37617421	8029	31531											
ZNF518A	9849	broad.mit.edu	37	chr10	97917704	97917704	+	RNA	DEL	A	A	-																															tcaaaggaataatatgcttcAaacaatggattatgagaaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97917704delA	ENST00000534948.1	+	0	2482							Q6AHZ1	Z518A_HUMAN	zinc finger protein 518A						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|urinary_tract(2)	24		Colorectal(252;0.0815)		Epithelial(162;4.23e-08)|all cancers(201;1.85e-06)		AATATGCTTCAAACAATGGAT	0.323													-	97917704	A	-	97917704	6	5	364	0	1	1	0	1	0	0	0	0	18063	130	5	0		0	ZNF518A	10	97917704	RNA	DEL	A	TCGA-DU-6392-01A-11D-1705-08	378	97917704	37617043	8030	31532											
BLNK	29760	broad.mit.edu	37	chr10	97964316	97964316	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaggaaacactggtgactGcacagcttcttgtctgtgac	10	10	12	9	0	2	2	0	2	2	0	2	4	2	4	0	3	3	2	0	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964316G>A	ENST00000224337.5	-	12	1015	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	BLNK_ENST00000413476.2_Nonsense_Mutation_p.Q292*|BLNK_ENST00000427367.2_Nonsense_Mutation_p.Q292*|BLNK_ENST00000371176.2_Nonsense_Mutation_p.Q269*	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	292					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		ACTGGTGACTGCACAGCTTCT	0.423													A	97964316	G	A	97964316	4	1	364	1	0	0	0	0	0	1	0	0	1453	1328	46	2	520	2	BLNK	10	97964316	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46612	97964316	37570431	8031	31533											
BLNK	29760	broad.mit.edu	37	chr10	97964351	97964351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacttgaccctcggtggCgttcagcaggtataggtttt	6	14	13	8	2	1	2	1	2	0	0	2	2	1	2	1	4	1	4	1	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:97964351C>T	ENST00000224337.5	-	12	980	c.839G>A	c.(838-840)cGc>cAc	p.R280H	BLNK_ENST00000413476.2_Missense_Mutation_p.R280H|BLNK_ENST00000427367.2_Missense_Mutation_p.R280H|BLNK_ENST00000371176.2_Missense_Mutation_p.R257H	NM_013314.3	NP_037446.1	Q8WV28	BLNK_HUMAN	B-cell linker	280					B cell differentiation|humoral immune response|inflammatory response|intracellular signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(2)|stomach(1)	14		Colorectal(252;0.083)		Epithelial(162;7.89e-08)|all cancers(201;2.27e-06)		CCCTCGGTGGCGTTCAGCAGG	0.443													T	97964351	C	T	97964351	3	4	364	1	0	0	0	0	1	0	0	0	1453	768	27	1	555	1	BLNK	10	97964351	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35	97964351	37570396	8032	31534											
TLL2	7093	broad.mit.edu	37	chr10	98146790	98146790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccagcgtgttcacacagCgatgctcgcacccgccgtga	7	7	11	16	5	1	1	1	1	0	0	2	2	1	1	3	0	4	3	3	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98146790C>T	ENST00000357947.3	-	14	1997	c.1772G>A	c.(1771-1773)cGc>cAc	p.R591H		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	591	EGF-like 1; calcium-binding (Potential).			EVDECSWPDHGGCEHRCV -> GKKKKKKKKKKKKKKKKK (in Ref. 5; AAH13871).	cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		GTTCACACAGCGATGCTCGCA	0.592													T	98146790	C	T	98146790	3	4	364	1	0	0	0	0	1	0	0	0	16046	768	27	1	1307	1	TLL2	10	98146790	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182439	98146790	37387957	8033	31535											
TLL2	7093	broad.mit.edu	37	chr10	98165092	98165092	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgaagtttaatacgatCtgtaaagaattaccataaag	17	12	8	4	1	1	2	0	1	1	1	1	4	1	2	1	0	2	2	1	0	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98165092C>A	ENST00000357947.3	-	10	1390		c.e10-1		TLL2_ENST00000469598.1_Splice_Site	NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2						cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TTAATACGATCTGTAAAGAAT	0.433													A	98165092	C	A	98165092	5	1	364	1	0	0	0	0	0	0	1	0	16046	927	32	4	1931	4	TLL2	10	98165092	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18302	98165092	37369655	8034	31536											
PIK3AP1	118788	broad.mit.edu	37	chr10	98386590	98386590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcatcgtcatccaccGtgtgataaacatcttcttcc	9	12	6	14	2	4	1	2	1	2	0	7	1	6	1	4	1	1	0	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98386590G>A	ENST00000339364.5	-	10	1663	c.1544C>T	c.(1543-1545)aCg>aTg	p.T515M	PIK3AP1_ENST00000371110.2_Missense_Mutation_p.T337M|PIK3AP1_ENST00000371109.3_Missense_Mutation_p.T114M	NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	515						cytoplasm|plasma membrane				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		GTCATCCACCGTGTGATAAAC	0.547													A	98386590	G	A	98386590	3	1	364	1	0	0	0	0	1	0	0	0	11985	1145	40	1	905	1	PIK3AP1	10	98386590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221498	98386590	37148157	8035	31537											
C10orf12	26148	broad.mit.edu	37	chr10	98741496	98741496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatggttggttaggccccGgccctatgccagctgtacac	8	9	12	12	1	0	1	0	0	0	1	0	1	0	1	4	4	3	4	4	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741496G>A	ENST00000286067.2	+	1	456	c.349G>A	c.(349-351)Ggc>Agc	p.G117S		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	117										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GTTAGGCCCCGGCCCTATGCC	0.473													A	98741496	G	A	98741496	3	1	364	1	0	0	0	0	1	0	0	0	1600	1116	39	1	351	1	C10orf12	10	98741496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	354906	98741496	36793251	8036	31538											
C10orf12	26148	broad.mit.edu	37	chr10	98741938	98741938	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctagcaaggaaatcacctCtcacgaggaaggaggtggag	14	5	13	9	1	2	0	2	0	1	0	3	5	2	4	2	5	1	1	2	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741938C>A	ENST00000286067.2	+	1	898	c.791C>A	c.(790-792)tCt>tAt	p.S264Y		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	264										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAAATCACCTCTCACGAGGAA	0.512													A	98741938	C	A	98741938	3	1	364	1	0	0	0	0	1	0	0	0	1600	913	32	4	793	4	C10orf12	10	98741938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	442	98741938	36792809	8037	31539											
C10orf12	26148	broad.mit.edu	37	chr10	98741970	98741970	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtggagacgtttcacctCgaaaagaacctcaagagcct	13	7	11	10	2	2	3	2	0	0	3	3	6	2	3	3	2	2	1	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98741970C>T	ENST00000286067.2	+	1	930	c.823C>T	c.(823-825)Cga>Tga	p.R275*		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	275										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CGTTTCACCTCGAAAAGAACC	0.522													T	98741970	C	T	98741970	4	4	364	1	0	0	0	0	0	1	0	0	1600	876	31	1	825	1	C10orf12	10	98741970	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	98741970	36792777	8038	31540											
C10orf12	26148	broad.mit.edu	37	chr10	98743924	98743924	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actacaggctgagcgcttgaAaaagcacttgaagaaatttc	15	9	9	8	1	0	4	0	3	0	1	1	4	0	4	0	1	3	3	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98743924A>T	ENST00000286067.2	+	1	2884	c.2777A>T	c.(2776-2778)aAa>aTa	p.K926I		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	926										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GAGCGCTTGAAAAAGCACTTG	0.473													T	98743924	A	T	98743924	3	4	364	1	0	0	0	0	1	0	0	0	1600	14	1	5	2779	5	C10orf12	10	98743924	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1954	98743924	36790823	8039	31541											
SLIT1	6585	broad.mit.edu	37	chr10	98824567	98824567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctttacttacagcacCtccagcccccgcagagcacg	9	7	7	18	2	0	1	0	0	0	1	1	1	1	1	5	0	6	4	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824567C>A	ENST00000266058.4	-	6	797	c.552G>T	c.(550-552)gaG>gaT	p.E184D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.E184D|SLIT1_ENST00000371070.4_Missense_Mutation_p.E184D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	184					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTTACAGCACCTCCAGCCCCC	0.592													A	98824567	C	A	98824567	3	1	364	1	0	0	0	0	1	0	0	0	14833	680	24	4	4180	4	SLIT1	10	98824567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80643	98824567	36710180	8040	31542											
SLIT1	6585	broad.mit.edu	37	chr10	98824578	98824578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacagcacctccagcccccGcagagcacggaaggcccctt	9	5	9	18	2	0	1	0	0	0	1	1	2	1	2	6	2	4	3	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:98824578G>A	ENST00000266058.4	-	6	786	c.541C>T	c.(541-543)Cgg>Tgg	p.R181W	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371041.3_Missense_Mutation_p.R181W|SLIT1_ENST00000371070.4_Missense_Mutation_p.R181W	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	181					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCCAGCCCCCGCAGAGCACGG	0.582													A	98824578	G	A	98824578	3	1	364	1	0	0	0	0	1	0	0	0	14833	1086	38	1	4191	1	SLIT1	10	98824578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	98824578	36710169	8041	31543											
RRP12	23223	broad.mit.edu	37	chr10	99131923	99131923	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtccaggacagacaaTctgctcggggcaggaggaca	12	4	14	11	1	1	1	0	0	1	1	3	4	2	4	2	6	1	2	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99131923T>C	ENST00000370992.4	-	20	2361	c.2250A>G	c.(2248-2250)agA>agG	p.R750R	RRP12_ENST00000414986.1_Splice_Site_p.R689R|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Splice_Site_p.R650R|RRP12_ENST00000536831.1_Splice_Site_p.R468R	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	750						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		GGACAGACAATCTGCTCGGGG	0.592													C	99131923	T	C	99131923	5	2	364	1	0	0	0	0	0	0	1	0	13777	1449	50	3	1703	3	RRP12	10	99131923	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	307345	99131923	36402824	8042	31544											
RRP12	23223	broad.mit.edu	37	chr10	99132933	99132933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaaagttcttggcaaagCgactcacttcagcacggtca	12	8	10	11	2	4	1	3	0	1	1	4	2	4	1	0	2	2	4	0	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99132933C>T	ENST00000370992.4	-	18	2162	c.2051G>A	c.(2050-2052)cGc>cAc	p.R684H	RRP12_ENST00000414986.1_Missense_Mutation_p.R623H|RRP12_ENST00000479481.1_5'UTR|RRP12_ENST00000315563.6_Missense_Mutation_p.R584H|RRP12_ENST00000536831.1_Missense_Mutation_p.R402H	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	684						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		CTTGGCAAAGCGACTCACTTC	0.592													T	99132933	C	T	99132933	3	4	364	1	0	0	0	0	1	0	0	0	13777	768	27	1	1910	1	RRP12	10	99132933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1010	99132933	36401814	8043	31545											
RRP12	23223	broad.mit.edu	37	chr10	99144989	99144989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggttgtaaatcattcTcactgggaacatagtcgtac	11	11	11	8	1	2	0	2	0	1	0	4	1	2	1	0	3	2	4	0	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99144989T>C	ENST00000370992.4	-	10	1253	c.1142A>G	c.(1141-1143)gAg>gGg	p.E381G	RRP12_ENST00000414986.1_Missense_Mutation_p.E320G|RRP12_ENST00000315563.6_Missense_Mutation_p.E281G|RRP12_ENST00000536831.1_Missense_Mutation_p.E99G	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	381						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TAAATCATTCTCACTGGGAAC	0.527													C	99144989	T	C	99144989	3	2	364	1	0	0	0	0	1	0	0	0	13777	1551	54	3	2851	3	RRP12	10	99144989	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12056	99144989	36389758	8044	31546											
ZDHHC16	84287	broad.mit.edu	37	chr10	99213323	99213323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggccactataaccatcGgtacttcttctctttctgct	6	16	7	12	1	3	0	0	0	3	0	5	0	3	0	2	2	3	2	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213323G>A	ENST00000393760.1	+	7	942	c.593G>A	c.(592-594)cGg>cAg	p.R198Q	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Missense_Mutation_p.R133Q|ZDHHC16_ENST00000370854.3_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000352634.4_Missense_Mutation_p.R198Q|ZDHHC16_ENST00000353979.3_Intron|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000370842.2_Missense_Mutation_p.R198Q	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	198					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		TATAACCATCGGTACTTCTTC	0.488													A	99213323	G	A	99213323	3	1	364	1	0	0	0	0	1	0	0	0	17707	1116	39	1	611	1	ZDHHC16	10	99213323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68334	99213323	36321424	8045	31547											
ZDHHC16	84287	broad.mit.edu	37	chr10	99213591	99213591	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaagaacaaactacaggcGgttgccaaccaggtgggctg	13	5	13	10	1	0	1	0	0	0	1	0	2	0	1	2	4	5	2	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99213591G>A	ENST00000393760.1	+	8	1075	c.726G>A	c.(724-726)gcG>gcA	p.A242A	ZDHHC16_ENST00000495735.1_3'UTR|ZDHHC16_ENST00000345745.5_Intron|ZDHHC16_ENST00000370854.3_Silent_p.A242A|ZDHHC16_ENST00000352634.4_Intron|ZDHHC16_ENST00000353979.3_Silent_p.A203A|ZDHHC16_ENST00000370846.4_Intron|ZDHHC16_ENST00000370842.2_Intron	NM_198046.1	NP_932163.1	Q969W1	ZDH16_HUMAN	zinc finger, DHHC-type containing 16	242					apoptosis	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|zinc ion binding			kidney(4)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	14		Colorectal(252;0.0846)		Epithelial(162;5.81e-10)|all cancers(201;4.19e-08)		AACTACAGGCGGTTGCCAACC	0.577													A	99213591	G	A	99213591	2	1	364	1	0	0	0	0	0	0	0	1	17707	1103	39	1		1	ZDHHC16	10	99213591	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268	99213591	36321156	8046	31548											
UBTD1	80019	broad.mit.edu	37	chr10	99329915	99329915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccctctgtgaatgctacGatgagctgggcaatcgctac	9	9	11	12	2	1	2	0	2	1	0	2	3	1	2	1	1	4	5	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99329915G>A	ENST00000370664.3	+	3	655	c.319G>A	c.(319-321)Gat>Aat	p.D107N		NM_024954.3	NP_079230.1	Q9HAC8	UBTD1_HUMAN	ubiquitin domain containing 1	107										central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(1)|skin(1)	7		Colorectal(252;0.162)		Epithelial(162;3.04e-10)|all cancers(201;2.86e-08)		TGAATGCTACGATGAGCTGGG	0.582													A	99329915	G	A	99329915	3	1	364	1	0	0	0	0	1	0	0	0	17009	1058	37	1	329	1	UBTD1	10	99329915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116324	99329915	36204832	8047	31549											
AVPI1	60370	broad.mit.edu	37	chr10	99439405	99439405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgcagtggtgtagcgagtgGcccaggggtttctgccttgg	4	11	17	9	1	1	0	0	0	1	0	1	1	1	0	2	5	3	3	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99439405G>A	ENST00000370626.3	-	2	825	c.258C>T	c.(256-258)ggC>ggT	p.G86G		NM_021732.2	NP_068378.2	Q5T686	AVPI1_HUMAN	arginine vasopressin-induced 1	86					cell cycle					breast(1)|endometrium(1)|large_intestine(2)|skin(1)	5		Colorectal(252;0.162)		Epithelial(162;8.37e-11)|all cancers(201;7.94e-09)		GTAGCGAGTGGCCCAGGGGTT	0.617													A	99439405	G	A	99439405	2	1	364	1	0	0	0	0	0	0	0	1	1235	1190	42	2		2	AVPI1	10	99439405	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109490	99439405	36095342	8048	31550											
ZFYVE27	118813	broad.mit.edu	37	chr10	99509276	99509276	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcatgctgtatttgctGccactctgctgggttctcac	4	15	10	12	0	3	0	1	0	3	0	4	0	3	0	1	1	5	6	1	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99509276G>A	ENST00000393677.4	+	6	801	c.597G>A	c.(595-597)ctG>ctA	p.L199L	ZFYVE27_ENST00000453958.2_Silent_p.L199L|ZFYVE27_ENST00000359980.3_Silent_p.L199L|ZFYVE27_ENST00000370613.3_Silent_p.L81L|ZFYVE27_ENST00000356257.4_Silent_p.L199L|ZFYVE27_ENST00000370610.3_Silent_p.L101L|ZFYVE27_ENST00000357540.4_Silent_p.L113L|ZFYVE27_ENST00000337540.7_Silent_p.L167L	NM_144588.6	NP_653189.3	Q5T4F4	ZFY27_HUMAN	zinc finger, FYVE domain containing 27	199					cell death|nerve growth factor receptor signaling pathway|neuron projection development|protein localization in plasma membrane	axon|dendrite|endoplasmic reticulum membrane|growth cone membrane|integral to membrane|recycling endosome membrane	metal ion binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	8		Colorectal(252;0.0846)		Epithelial(162;7.08e-10)|all cancers(201;5.18e-08)		TGTATTTGCTGCCACTCTGCT	0.522													A	99509276	G	A	99509276	2	1	364	1	0	0	0	0	0	0	0	1	17770	1306	46	2		2	ZFYVE27	10	99509276	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69871	99509276	36025471	8049	31551											
CRTAC1	55118	broad.mit.edu	37	chr10	99655064	99655064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcccccgtcgatgatcCtcaggtgggccccactcttc	5	9	10	17	2	2	2	1	2	1	0	5	3	3	2	5	2	1	0	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99655064C>A	ENST00000370597.3	-	11	1779	c.1424G>T	c.(1423-1425)aGg>aTg	p.R475M	CRTAC1_ENST00000370591.2_Missense_Mutation_p.R475M|CRTAC1_ENST00000298819.4_Missense_Mutation_p.R475M	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	475						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		GTCGATGATCCTCAGGTGGGC	0.622													A	99655064	C	A	99655064	3	1	364	1	0	0	0	0	1	0	0	0	3927	681	24	4	581	4	CRTAC1	10	99655064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145788	99655064	35879683	8050	31552											
CRTAC1	55118	broad.mit.edu	37	chr10	99677334	99677334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggagaggtcactggcctcaGggtccatttcaatgagggca	9	8	15	9	0	3	2	3	1	0	1	4	3	4	2	2	5	0	1	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:99677334G>T	ENST00000370597.3	-	5	993	c.638C>A	c.(637-639)cCt>cAt	p.P213H	CRTAC1_ENST00000370591.2_Missense_Mutation_p.P213H|CRTAC1_ENST00000298819.4_Missense_Mutation_p.P213H	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	213						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		ACTGGCCTCAGGGTCCATTTC	0.557													T	99677334	G	T	99677334	3	4	364	1	0	0	0	0	1	0	0	0	3927	1000	35	4	1391	4	CRTAC1	10	99677334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22270	99677334	35857413	8051	31553											
HPS1	3257	broad.mit.edu	37	chr10	100183511	100183511	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgcactgcacttaccGcatgagcctctgcacttggt	6	9	12	14	2	1	1	0	1	1	0	1	1	1	1	3	3	4	4	3	3	1	2	rs147748659	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100183511G>A	ENST00000325103.6	-	15	1764	c.1531C>T	c.(1531-1533)Cgg>Tgg	p.R511W	HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Splice_Site_p.R511W	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	511					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGCACTTACCGCATGAGCCTC	0.672									Hermansky-Pudlak syndrome				A	100183511	G	A	100183511	5	1	364	1	0	0	0	0	0	0	1	0	7394	1101	38	1	595	1	HPS1	10	100183511	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506177	100183511	35351236	8052	31554											
HPS1	3257	broad.mit.edu	37	chr10	100202908	100202908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctcattctctgactgcccGaacttcagccggagactctc	7	11	7	16	2	4	2	2	1	2	1	7	4	5	2	3	1	3	0	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100202908G>A	ENST00000325103.6	-	3	323	c.90C>T	c.(88-90)ttC>ttT	p.F30F	HPS1_ENST00000338546.5_Silent_p.F30F|HPS1_ENST00000467246.1_5'UTR|HPS1_ENST00000361490.4_Silent_p.F30F	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	30					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		CTGACTGCCCGAACTTCAGCC	0.557									Hermansky-Pudlak syndrome				A	100202908	G	A	100202908	2	1	364	1	0	0	0	0	0	0	0	1	7394	1049	37	1		1	HPS1	10	100202908	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19397	100202908	35331839	8053	31555											
HPSE2	60495	broad.mit.edu	37	chr10	100481452	100481452	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcttcctcggccgcccAatattagggccatataagct	10	11	7	13	2	1	0	0	0	1	0	3	0	2	0	4	2	1	1	4	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:100481452A>G	ENST00000370552.3	-	5	977	c.918T>C	c.(916-918)atT>atC	p.I306I	HPSE2_ENST00000404542.1_Silent_p.I194I|HPSE2_ENST00000370546.1_Silent_p.I306I|HPSE2_ENST00000370549.1_Silent_p.I248I	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	306					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TCGGCCGCCCAATATTAGGGC	0.438													G	100481452	A	G	100481452	2	3	364	1	0	0	0	0	0	0	0	1	7400	126	5	3		3	HPSE2	10	100481452	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278544	100481452	35053295	8054	31556											
CNNM1	26507	broad.mit.edu	37	chr10	101124720	101124720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccttagataatgacGtgcggaaggttggaagtctg	9	13	13	6	2	2	2	0	1	2	1	3	4	3	4	1	3	1	1	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101124720G>A	ENST00000356713.4	+	6	2426	c.2137G>A	c.(2137-2139)Gtg>Atg	p.V713M	CNNM1_ENST00000370528.3_Missense_Mutation_p.V642M|CNNM1_ENST00000370534.4_Missense_Mutation_p.V348M|CNNM1_ENST00000446890.1_Missense_Mutation_p.V642M	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	713					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		AGATAATGACGTGCGGAAGGT	0.512													A	101124720	G	A	101124720	3	1	364	1	0	0	0	0	1	0	0	0	3643	1145	40	1	2159	1	CNNM1	10	101124720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	643268	101124720	34410027	8055	31557											
GOT1	2805	broad.mit.edu	37	chr10	101163503	101163503	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagcccgaagttcttggaGaaggactgggcacagaagaa	14	6	14	7	1	1	4	0	0	1	4	1	7	1	5	1	3	1	2	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101163503G>T	ENST00000370508.5	-	6	798	c.771C>A	c.(769-771)ttC>ttA	p.F257L	GOT1_ENST00000543866.1_Missense_Mutation_p.F236L	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	257					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	AGTTCTTGGAGAAGGACTGGG	0.552													T	101163503	G	T	101163503	3	4	364	1	0	0	0	0	1	0	0	0	6632	933	33	4	486	4	GOT1	10	101163503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38783	101163503	34371244	8056	31558											
GOT1	2805	broad.mit.edu	37	chr10	101180553	101180553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagggatggcagtcatccGtgcgatatgctggagaatgg	9	8	15	9	2	1	1	1	0	0	1	2	4	2	2	2	4	2	2	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101180553G>A	ENST00000370508.5	-	2	155	c.128C>T	c.(127-129)aCg>aTg	p.T43M	GOT1_ENST00000543866.1_Missense_Mutation_p.T22M|GOT1_ENST00000471741.1_5'UTR	NM_002079.2	NP_002070.1	P17174	AATC_HUMAN	glutamic-oxaloacetic transaminase 1, soluble	43					aspartate catabolic process|cellular response to insulin stimulus|gluconeogenesis|response to glucocorticoid stimulus	cytosol	L-aspartate:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)	16		Ovarian(717;0.028)|Colorectal(252;0.234)		Epithelial(162;4.76e-10)|all cancers(201;3.84e-08)	L-Aspartic Acid(DB00128)|L-Cysteine(DB00151)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	GCAGTCATCCGTGCGATATGC	0.468													A	101180553	G	A	101180553	3	1	364	1	0	0	0	0	1	0	0	0	6632	1145	40	1	1145	1	GOT1	10	101180553	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17050	101180553	34354194	8057	31559											
SLC25A28	81894	broad.mit.edu	37	chr10	101373480	101373480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatatggctattgcccccagGgtggattacatcactcaatg	11	11	9	10	0	2	0	2	0	0	0	2	1	2	1	2	3	2	1	2	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101373480G>T	ENST00000370495.4	-	2	521	c.493C>A	c.(493-495)Cct>Act	p.P165T	SLC25A28_ENST00000496035.1_5'UTR	NM_031212.3	NP_112489.3	Q96A46	MFRN2_HUMAN	solute carrier family 25 (mitochondrial iron transporter), member 28	165					ion transport|iron ion homeostasis	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|stomach(1)	11		Colorectal(252;0.234)		Epithelial(162;2.57e-10)|all cancers(201;2.01e-08)		TTGCCCCCAGGGTGGATTACA	0.522													T	101373480	G	T	101373480	3	4	364	1	0	0	0	0	1	0	0	0	14585	1232	43	4	613	4	SLC25A28	10	101373480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192927	101373480	34161267	8058	31560											
COX15	1355	broad.mit.edu	37	chr10	101478228	101478228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaggagttataaacaaGcccagcatctagccctgcca	14	6	10	11	0	1	0	0	0	1	0	1	2	1	2	3	2	5	2	3	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101478228G>A	ENST00000370483.5	-	7	912	c.862C>T	c.(862-864)Ctt>Ttt	p.L288F	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Missense_Mutation_p.L288F	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	288					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TTATAAACAAGCCCAGCATCT	0.433													A	101478228	G	A	101478228	3	1	364	1	0	0	0	0	1	0	0	0	3795	971	34	2	452	2	COX15	10	101478228	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104748	101478228	34056519	8059	31561											
COX15	1355	broad.mit.edu	37	chr10	101489459	101489459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcagagatggtgctgtattgCcctggcctcaaagggcgcct	7	10	13	11	1	2	1	2	0	0	1	2	2	2	1	3	3	2	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101489459C>T	ENST00000370483.5	-	2	173	c.123G>A	c.(121-123)ggG>ggA	p.G41G	CUTC_ENST00000493385.1_Intron|COX15_ENST00000016171.5_Silent_p.G41G	NM_004376.5|NM_078470.4	NP_004367.2|NP_510870.1	Q7KZN9	COX15_HUMAN	cytochrome c oxidase assembly homolog 15 (yeast)	41					heme a biosynthetic process|respiratory chain complex IV assembly|respiratory gaseous exchange	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Colorectal(252;0.234)		Epithelial(162;3.08e-10)|all cancers(201;2.43e-08)		TGCTGTATTGCCCTGGCCTCA	0.532													T	101489459	C	T	101489459	2	4	364	1	0	0	0	0	0	0	0	1	3795	726	26	2		2	COX15	10	101489459	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11231	101489459	34045288	8060	31562											
ABCC2	1244	broad.mit.edu	37	chr10	101560197	101560197	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtggattggatatctCtgtgcaatcctcttattcac	8	18	7	8	0	3	0	1	0	2	0	5	2	4	2	1	2	1	1	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101560197C>A	ENST00000370449.4	+	9	1199	c.1086C>A	c.(1084-1086)ctC>ctA	p.L362L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	362	ABC transmembrane type-1 1.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TTGGATATCTCTGTGCAATCC	0.448													A	101560197	C	A	101560197	2	1	364	1	0	0	0	0	0	0	0	1	53	900	32	4		4	ABCC2	10	101560197	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70738	101560197	33974550	8061	31563											
ABCC2	1244	broad.mit.edu	37	chr10	101590553	101590553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagcctgaaggaagacgAagaactagtgaaaggacaaa	20	4	12	5	1	0	4	0	2	0	2	0	8	0	6	1	2	2	0	1	2	9	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101590553A>G	ENST00000370449.4	+	21	2941	c.2828A>G	c.(2827-2829)gAa>gGa	p.E943G		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	943						apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AAGGAAGACGAAGAACTAGTG	0.418													G	101590553	A	G	101590553	3	3	364	1	0	0	0	0	1	0	0	0	53	246	9	3	2910	3	ABCC2	10	101590553	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30356	101590553	33944194	8062	31564											
DNMBP	23268	broad.mit.edu	37	chr10	101646233	101646233	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgggccgactgcagctcctCcagggtcttcttgtccttta	4	12	10	15	2	2	0	0	0	2	0	5	1	5	0	5	2	2	2	5	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101646233C>A	ENST00000342239.3	-	13	3605	c.3514G>T	c.(3514-3516)Gag>Tag	p.E1172*	DNMBP_ENST00000543621.1_Nonsense_Mutation_p.E394*|DNMBP_ENST00000472036.1_5'UTR|DNMBP_ENST00000540316.1_Nonsense_Mutation_p.E84*|DNMBP_ENST00000324109.4_Nonsense_Mutation_p.E1148*			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	1148	BAR.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		TGCAGCTCCTCCAGGGTCTTC	0.542													A	101646233	C	A	101646233	4	1	364	1	0	0	0	0	0	1	0	0	4713	864	30	4	1311	4	DNMBP	10	101646233	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55680	101646233	33888514	8063	31565											
CPN1	1369	broad.mit.edu	37	chr10	101816817	101816817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgattacccagccactcccGctgtaactcctcttcggggg	6	9	9	17	3	1	0	0	0	1	0	4	1	3	0	5	2	3	2	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101816817G>A	ENST00000370418.3	-	6	1215	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	322	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		AGCCACTCCCGCTGTAACTCC	0.453													A	101816817	G	A	101816817	3	1	364	1	0	0	0	0	1	0	0	0	3840	1086	38	1	428	1	CPN1	10	101816817	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170584	101816817	33717930	8064	31566											
CPN1	1369	broad.mit.edu	37	chr10	101841303	101841303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgcacaagatcatcatagCggtggtggcgaaaggtcacc	11	7	12	11	3	3	1	3	0	0	1	4	2	4	1	2	4	1	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101841303C>T	ENST00000370418.3	-	1	331	c.80G>A	c.(79-81)cGc>cAc	p.R27H		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	27	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		ATCATCATAGCGGTGGTGGCG	0.567													T	101841303	C	T	101841303	3	4	364	1	0	0	0	0	1	0	0	0	3840	768	27	1	1332	1	CPN1	10	101841303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24486	101841303	33693444	8065	31567											
ERLIN1	10613	broad.mit.edu	37	chr10	101911983	101911983	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttccagtcctaatatCtgaatatttcaaagcacatg	12	15	4	10	0	3	1	1	1	2	0	6	1	5	1	2	0	1	1	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101911983C>A	ENST00000421367.2	-	11	3659	c.952G>T	c.(952-954)Gat>Tat	p.D318Y	ERLIN1_ENST00000407654.3_Missense_Mutation_p.D318Y	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	316					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding	p.D316H(1)					Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		GTCCTAATATCTGAATATTTC	0.443													A	101911983	C	A	101911983	3	1	364	1	0	0	0	0	1	0	0	0	5273	913	32	4	98	4	ERLIN1	10	101911983	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70680	101911983	33622764	8066	31568											
ERLIN1	10613	broad.mit.edu	37	chr10	101912021	101912021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaggagtccacgaacatgTtagggatgttgctgccaaaa	13	9	12	7	1	0	1	0	1	0	0	1	4	1	3	2	2	3	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:101912021T>C	ENST00000421367.2	-	11	3621	c.914A>G	c.(913-915)aAc>aGc	p.N305S	ERLIN1_ENST00000407654.3_Missense_Mutation_p.N305S	NM_001100626.1|NM_006459.3	NP_001094096.1|NP_006450.2	O75477	ERLN1_HUMAN	ER lipid raft associated 1	303					ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding						Colorectal(252;0.234)		Epithelial(162;3.85e-10)|all cancers(201;3.25e-08)		CACGAACATGTTAGGGATGTT	0.468													C	101912021	T	C	101912021	3	2	364	1	0	0	0	0	1	0	0	0	5273	1725	60	3	136	3	ERLIN1	10	101912021	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38	101912021	33622726	8067	31569											
CWF19L1	55280	broad.mit.edu	37	chr10	102005616	102005616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctacctgtggatgaacGcttccttccctgcttttcat	6	16	6	13	1	2	1	1	1	1	0	5	2	4	2	3	1	3	2	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005616G>A	ENST00000354105.4	-	9	990	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.R57C	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	302							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		GTGGATGAACGCTTCCTTCCC	0.398													A	102005616	G	A	102005616	3	1	364	1	0	0	0	0	1	0	0	0	4104	1087	38	1	736	1	CWF19L1	10	102005616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93595	102005616	33529131	8068	31570											
CWF19L1	55280	broad.mit.edu	37	chr10	102005653	102005653	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatttaaatcaaagaaaaaCtgacaggctgattcttcctg	15	12	6	8	0	3	3	2	2	1	1	4	3	4	3	1	1	1	1	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102005653C>A	ENST00000354105.4	-	9	953	c.867G>T	c.(865-867)caG>caT	p.Q289H	CWF19L1_ENST00000478047.1_Intron|CWF19L1_ENST00000370379.1_Missense_Mutation_p.Q44H	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	289							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		CAAAGAAAAACTGACAGGCTG	0.413													A	102005653	C	A	102005653	3	1	364	1	0	0	0	0	1	0	0	0	4104	564	20	4	773	4	CWF19L1	10	102005653	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	102005653	33529094	8069	31571											
PKD2L1	9033	broad.mit.edu	37	chr10	102054794	102054794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaatgaagaacatgacGgcgaagcccaggatgtcctt	16	6	10	9	2	0	3	0	2	0	1	1	5	1	4	2	2	3	0	2	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102054794G>A	ENST00000318222.3	-	8	1825	c.1443C>T	c.(1441-1443)gcC>gcT	p.A481A	PKD2L1_ENST00000353274.3_Silent_p.A481A|PKD2L1_ENST00000338519.3_Silent_p.A406A	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	481					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding	p.A481A(1)		NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGAACATGACGGCGAAGCCCA	0.507													A	102054794	G	A	102054794	2	1	364	1	0	0	0	0	0	0	0	1	12044	1103	39	1		1	PKD2L1	10	102054794	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49141	102054794	33479953	8070	31572											
PKD2L1	9033	broad.mit.edu	37	chr10	102056783	102056783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagatgctgctgaggtagCgaagccggtgaatgtggagc	9	8	16	8	2	0	3	0	2	0	1	1	5	1	4	2	3	5	3	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102056783C>T	ENST00000318222.3	-	6	1521	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	PKD2L1_ENST00000353274.3_Missense_Mutation_p.R380H|PKD2L1_ENST00000338519.3_Missense_Mutation_p.R305H	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	380					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		GCTGAGGTAGCGAAGCCGGTG	0.512													T	102056783	C	T	102056783	3	4	364	1	0	0	0	0	1	0	0	0	12044	768	27	1	1322	1	PKD2L1	10	102056783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1989	102056783	33477964	8071	31573											
WNT8B	7479	broad.mit.edu	37	chr10	102242454	102242454	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtccagctgcaactgcaagTtccactggtgctgcgcagtc	7	10	11	13	1	0	0	0	0	0	0	3	0	2	0	2	1	6	6	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102242454T>G	ENST00000343737.5	+	6	1065	c.937T>G	c.(937-939)Ttc>Gtc	p.F313V		NM_003393.3	NP_003384.2	Q93098	WNT8B_HUMAN	wingless-type MMTV integration site family, member 8B	313					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|determination of dorsal identity|endoderm development|eye development|gastrulation|hypothalamus development|negative regulation of anterior neural cell fate commitment of the neural plate by Wnt receptor signaling pathway|otic placode formation|positive regulation of gene expression|response to estradiol stimulus|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|signal transducer activity			breast(1)|large_intestine(1)|ovary(1)|skin(1)	4		Colorectal(252;0.117)		Epithelial(162;1.87e-10)|all cancers(201;1.64e-08)		CAACTGCAAGTTCCACTGGTG	0.726											OREG0020440	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	102242454	T	G	102242454	3	3	364	1	0	0	0	0	1	0	0	0	17499	1725	60	5	959	5	WNT8B	10	102242454	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	185671	102242454	33292293	8072	31574											
SEC31B	25956	broad.mit.edu	37	chr10	102265250	102265250	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgctgaaggaagaggaGatctggggggaaaagacacc	13	6	15	7	0	1	4	0	1	1	3	1	7	1	6	2	5	1	1	2	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102265250G>T	ENST00000370345.3	-	10	1144	c.1047C>A	c.(1045-1047)atC>atA	p.I349I	SEC31B_ENST00000451524.1_Silent_p.I349I	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	349					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGGAAGAGGAGATCTGGGGGG	0.532													T	102265250	G	T	102265250	2	4	364	1	0	0	0	0	0	0	0	1	14092	932	33	4		4	SEC31B	10	102265250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22796	102265250	33269497	8073	31575											
HIF1AN	55662	broad.mit.edu	37	chr10	102306288	102306288	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaggtggcatcacataGagtcattactaaatgggggg	11	10	13	7	0	2	1	2	0	0	1	2	1	2	1	0	5	2	2	0	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102306288G>T	ENST00000299163.6	+	6	944	c.844G>T	c.(844-846)Gag>Tag	p.E282*		NM_017902.2	NP_060372.2	Q9NWT6	HIF1N_HUMAN	hypoxia inducible factor 1, alpha subunit inhibitor		Interaction with HIF1A.|Interaction with VHL.|JmjC.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|protein binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(2)|urinary_tract(1)	10		Colorectal(252;0.234)		Epithelial(162;6.75e-10)|all cancers(201;4.88e-08)		GCATCACATAGAGTCATTACT	0.488													T	102306288	G	T	102306288	4	4	364	1	0	0	0	0	0	1	0	0	7159	943	33	4	866	4	HIF1AN	10	102306288	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41038	102306288	33228459	8074	31576											
SEMA4G	57715	broad.mit.edu	37	chr10	102743539	102743539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagccgggcaggaggatCtgcggtgcaactgcagacag	9	4	17	11	2	1	1	0	0	1	1	1	3	1	3	2	5	5	3	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102743539C>A	ENST00000210633.3	+	14	2261	c.2183C>A	c.(2182-2184)tCt>tAt	p.S728Y	MRPL43_ENST00000342071.1_Missense_Mutation_p.D210Y|MRPL43_ENST00000370241.3_Missense_Mutation_p.Q167H|MRPL43_ENST00000318325.2_Missense_Mutation_p.Q167H|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.D210Y|MRPL43_ENST00000299179.5_Missense_Mutation_p.Q167H|SEMA4G_ENST00000370250.4_Missense_Mutation_p.S723Y			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	723					cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		GCAGGAGGATCTGCGGTGCAA	0.642													A	102743539	C	A	102743539	3	1	364	1	0	0	0	0	1	0	0	0	14129	913	32	4	2237	4	SEMA4G	10	102743539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	437251	102743539	32791208	8075	31577											
C10orf2	56652	broad.mit.edu	37	chr10	102748108	102748108	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggagactctccaagcCttggatatgccagtgttgcc	10	9	12	10	0	1	1	0	0	1	1	2	4	1	3	4	3	3	1	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102748108C>A	ENST00000370228.1	+	1	326	c.141C>A	c.(139-141)gcC>gcA	p.A47A	C10orf2_ENST00000311916.2_Silent_p.A47A|C10orf2_ENST00000473656.1_Intron	NM_001163812.1|NM_001163814.1	NP_001157284.1|NP_001157286.1	Q96RR1	PEO1_HUMAN	chromosome 10 open reading frame 2	47					cell death|mitochondrial DNA replication|protein hexamerization|protein homooligomerization|transcription from mitochondrial promoter	mitochondrial nucleoid	5'-3' DNA helicase activity|ATP binding|protease binding|single-stranded DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|stomach(1)	24		Colorectal(252;0.122)|all_hematologic(284;0.152)		Epithelial(162;7.18e-11)|all cancers(201;8.75e-09)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CTCTCCAAGCCTTGGATATGC	0.607													A	102748108	C	A	102748108	2	1	364	1	0	0	0	0	0	0	0	1	1608	668	24	4		4	C10orf2	10	102748108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4569	102748108	32786639	8076	31578											
LZTS2	84445	broad.mit.edu	37	chr10	102763514	102763514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagggacgctatccgactCtggccgaaactcactgtcca	10	8	9	14	3	3	0	2	0	1	0	5	3	5	1	3	2	1	1	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102763514C>A	ENST00000370220.1	+	2	3722	c.659C>A	c.(658-660)tCt>tAt	p.S220Y	LZTS2_ENST00000370223.3_Missense_Mutation_p.S220Y			Q9BRK4	LZTS2_HUMAN	leucine zipper, putative tumor suppressor 2	220	Required for centrosomal localization (By similarity).|Ser-rich.				cell division|mitosis|Wnt receptor signaling pathway	membrane|microtubule|microtubule organizing center				breast(1)|large_intestine(6)|lung(7)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22				Epithelial(162;7.3e-09)|all cancers(201;3.72e-07)		CTATCCGACTCTGGCCGAAAC	0.647													A	102763514	C	A	102763514	3	1	364	1	0	0	0	0	1	0	0	0	9210	913	32	4	665	4	LZTS2	10	102763514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15406	102763514	32771233	8077	31579											
PDZD7	79955	broad.mit.edu	37	chr10	102783729	102783729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgacgaagatgcccaggCcatgctctgagcccccgcgc	7	6	12	16	3	1	3	0	2	1	1	1	4	1	3	4	1	4	2	4	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:102783729C>A	ENST00000370215.3	-	3	548	c.323G>T	c.(322-324)gGc>gTc	p.G108V	PDZD7_ENST00000470414.1_Missense_Mutation_p.G108V	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	108	PDZ 1.					cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		GATGCCCAGGCCATGCTCTGA	0.577													A	102783729	C	A	102783729	3	1	364	1	0	0	0	0	1	0	0	0	11780	739	26	4	1262	4	PDZD7	10	102783729	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20215	102783729	32751018	8078	31580											
BTRC	8945	broad.mit.edu	37	chr10	103292718	103292718	+	Frame_Shift_Del	DEL	A	A	-																															tgccatcctagatctgggatAaaaacacattggaatgcaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103292718delA	ENST00000370187.3	+	9	1106	c.988delA	c.(988-990)aaafs	p.K330fs	BTRC_ENST00000408038.2_Frame_Shift_Del_p.K294fs|BTRC_ENST00000393441.4_Frame_Shift_Del_p.K289fs	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	330					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		GATCTGGGATAAAAACACATT	0.438													-	103292718	A	-	103292718	7	5	364	1	0	1	0	1	0	0	0	0	1579	363	13	0	1022	0	BTRC	10	103292718	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	508989	103292718	32242029	8079	31581											
POLL	27343	broad.mit.edu	37	chr10	103345153	103345153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaggagaaagggCtgtctgaagcagggcctcat	12	5	18	6	0	2	2	1	1	1	1	2	6	2	5	1	6	1	2	1	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103345153C>T	ENST00000370162.3	-	4	987	c.493G>A	c.(493-495)Gcc>Acc	p.A165T	DPCD_ENST00000416979.2_Intron|POLL_ENST00000456836.2_Intron|DPCD_ENST00000470165.1_Intron|POLL_ENST00000339310.3_Intron|POLL_ENST00000370158.3_Intron|POLL_ENST00000370172.1_Missense_Mutation_p.A77T|POLL_ENST00000370169.1_Missense_Mutation_p.A165T|POLL_ENST00000436284.2_Intron|POLL_ENST00000299206.4_Missense_Mutation_p.A165T	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	165					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		GGAGAAAGGGCTGTCTGAAGC	0.597								DNA polymerases (catalytic subunits)					T	103345153	C	T	103345153	3	4	364	1	0	0	0	0	1	0	0	0	12282	797	28	2	1258	2	POLL	10	103345153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52435	103345153	32189594	8080	31582											
C10orf76	79591	broad.mit.edu	37	chr10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattctatgtaagtttactcGaaaattcatgttgtcatcat	12	17	5	7	1	4	0	3	0	1	0	5	1	4	0	0	0	1	3	0	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313													A	103753315	G	A	103753315	4	1	364	1	0	0	0	0	0	1	0	0	1627	1066	37	1	854	1	C10orf76	10	103753315	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	408162	103753315	31781432	8081	31583											
C10orf76	79591	broad.mit.edu	37	chr10	103784949	103784949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtttcagacataaactCttcagactttcagaaccttc	14	12	5	10	0	4	4	3	0	1	4	5	4	4	4	1	0	2	1	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103784949C>A	ENST00000370033.4	-	6	590	c.471G>T	c.(469-471)aaG>aaT	p.K157N		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	157						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		GACATAAACTCTTCAGACTTT	0.393													A	103784949	C	A	103784949	3	1	364	1	0	0	0	0	1	0	0	0	1627	912	32	4	1682	4	C10orf76	10	103784949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31634	103784949	31749798	8082	31584											
HPS6	79803	broad.mit.edu	37	chr10	103827248	103827248	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgaagtgaaatcttcaaaCtgctgctggccgagtttgcc	9	12	10	10	2	2	1	1	1	1	0	3	3	2	1	2	1	4	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103827248C>T	ENST00000299238.5	+	1	2102	c.2017C>T	c.(2017-2019)Ctg>Ttg	p.L673L		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	673						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		AATCTTCAAACTGCTGCTGGC	0.627									Hermansky-Pudlak syndrome				T	103827248	C	T	103827248	2	4	364	1	0	0	0	0	0	0	0	1	7398	564	20	2		2	HPS6	10	103827248	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42299	103827248	31707499	8083	31585											
LDB1	8861	broad.mit.edu	37	chr10	103869749	103869749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgccacgtctttatccGcatcatgtcgtcaaacatga	11	11	8	11	3	3	1	2	1	1	0	5	2	4	1	2	0	2	1	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103869749G>A	ENST00000361198.5	-	7	1092	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W	LDB1_ENST00000425280.1_Missense_Mutation_p.R193W	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	193					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity	p.R157W(1)		breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		GTCTTTATCCGCATCATGTCG	0.587													A	103869749	G	A	103869749	3	1	364	1	0	0	0	0	1	0	0	0	8754	1086	38	1	678	1	LDB1	10	103869749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42501	103869749	31664998	8084	31586											
LDB1	8861	broad.mit.edu	37	chr10	103870645	103870645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatatctctttggtccatcCtccaggcagaaagtgatggt	9	13	9	10	0	1	2	0	1	1	1	5	2	4	2	3	3	0	1	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103870645C>T	ENST00000361198.5	-	5	848	c.225G>A	c.(223-225)gaG>gaA	p.E75E	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000425280.1_Silent_p.E111E	NM_003893.4	NP_003884.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	111					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		TTGGTCCATCCTCCAGGCAGA	0.498													T	103870645	C	T	103870645	2	4	364	1	0	0	0	0	0	0	0	1	8754	680	24	2		2	LDB1	10	103870645	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	896	103870645	31664102	8085	31587											
PPRC1	23082	broad.mit.edu	37	chr10	103899528	103899528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcattgaactcagaggagaaGctggactcagcctgcttatt	11	11	10	9	0	3	3	3	1	0	2	3	5	3	4	1	2	4	2	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103899528G>T	ENST00000278070.2	+	5	1302	c.1263G>T	c.(1261-1263)aaG>aaT	p.K421N	PPRC1_ENST00000413464.2_Missense_Mutation_p.K421N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		CAGAGGAGAAGCTGGACTCAG	0.572													T	103899528	G	T	103899528	3	4	364	1	0	0	0	0	1	0	0	0	12492	962	34	4	1281	4	PPRC1	10	103899528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28883	103899528	31635219	8086	31588											
NOLC1	9221	broad.mit.edu	37	chr10	103916958	103916958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcagcaggtctgccaaggtCccagagcgaaagttacaggc	11	6	12	12	1	2	1	1	0	1	1	3	2	3	1	2	3	4	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103916958C>T	ENST00000405356.1	+	3	424	c.189C>T	c.(187-189)gtC>gtT	p.V63V	NOLC1_ENST00000605788.1_Silent_p.V63V|NOLC1_ENST00000603742.1_Intron|NOLC1_ENST00000488254.2_Silent_p.V64V	NM_001284388.1	NP_001271317.1	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	63					mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		CTGCCAAGGTCCCAGAGCGAA	0.512													T	103916958	C	T	103916958	2	4	364	1	0	0	0	0	0	0	0	1	10605	842	30	2		2	NOLC1	10	103916958	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17430	103916958	31617789	8087	31589											
ELOVL3	83401	broad.mit.edu	37	chr10	103987505	103987505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctggtccttctgccttgCaatcttcaggtaagacccca	7	12	7	15	0	4	1	1	0	3	1	5	1	5	1	5	2	2	2	5	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:103987505C>T	ENST00000370005.3	+	2	445	c.224C>T	c.(223-225)gCa>gTa	p.A75V		NM_152310.1	NP_689523.1	Q9HB03	ELOV3_HUMAN	ELOVL fatty acid elongase 3	75					fatty acid elongation, monounsaturated fatty acid|fatty acid elongation, polyunsaturated fatty acid|fatty acid elongation, saturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(2)|lung(10)|ovary(2)|prostate(1)|skin(1)	16		Colorectal(252;0.207)		Epithelial(162;4.47e-08)|all cancers(201;7.96e-07)		TTCTGCCTTGCAATCTTCAGG	0.522													T	103987505	C	T	103987505	3	4	364	1	0	0	0	0	1	0	0	0	5116	710	25	2	230	2	ELOVL3	10	103987505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70547	103987505	31547242	8088	31590											
GBF1	8729	broad.mit.edu	37	chr10	104120794	104120794	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctactcagcatagagCgactaaacctttatgctgct	11	11	7	12	1	1	1	1	0	0	1	2	2	2	1	2	0	7	4	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104120794C>T	ENST00000369983.3	+	13	1665	c.1405C>T	c.(1405-1407)Cga>Tga	p.R469*	GBF1_ENST00000476019.1_3'UTR	NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	469					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CAGCATAGAGCGACTAAACCT	0.473													T	104120794	C	T	104120794	4	4	364	1	0	0	0	0	0	1	0	0	6325	760	27	1	1451	1	GBF1	10	104120794	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133289	104120794	31413953	8089	31591											
GBF1	8729	broad.mit.edu	37	chr10	104136704	104136704	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcaggatgcaagtcccAggagaaacgtggcaagagtc	12	6	13	10	1	1	2	1	0	0	2	3	4	2	3	1	3	3	3	1	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104136704A>C	ENST00000369983.3	+	33	4558	c.4298A>C	c.(4297-4299)cAg>cCg	p.Q1433P		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1433					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAAGTCCCAGGAGAAACGT	0.517													C	104136704	A	C	104136704	3	2	364	1	0	0	0	0	1	0	0	0	6325	188	7	5	4424	5	GBF1	10	104136704	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15910	104136704	31398043	8090	31592											
NFKB2	4791	broad.mit.edu	37	chr10	104157744	104157744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccactccatagaatctcCgggggcatcaaacctgaaga	13	7	8	13	1	2	3	1	1	1	2	5	3	4	3	4	2	1	1	4	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104157744C>T	ENST00000369966.3	+	9	918	c.668C>T	c.(667-669)cCg>cTg	p.P223L	NFKB2_ENST00000428099.1_Missense_Mutation_p.P223L|NFKB2_ENST00000189444.6_Missense_Mutation_p.P223L	NM_001077494.2	NP_001070962.1	Q00653	NFKB2_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)	223	RHD.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|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	Bcl3/NF-kappaB2 complex|cytosol|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|skin(2)	23		Colorectal(252;0.00957)		Epithelial(162;3.4e-08)|all cancers(201;6.41e-07)		ATAGAATCTCCGGGGGCATCA	0.478			T	IGH@	B-NHL								T	104157744	C	T	104157744	3	4	364	1	0	0	0	0	1	0	0	0	10452	652	23	1	698	1	NFKB2	10	104157744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21040	104157744	31377003	8091	31593											
PSD	5662	broad.mit.edu	37	chr10	104176346	104176346	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgatgtggatgcttccagCcgtaacttccggttggagcc	6	12	12	11	2	1	1	0	1	1	0	3	3	3	3	4	3	4	3	4	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104176346C>T	ENST00000020673.5	-	2	976	c.450G>A	c.(448-450)cgG>cgA	p.R150R	PSD_ENST00000406432.1_Silent_p.R150R	NM_001270966.1|NM_002779.4	NP_001257895.1|NP_002770.3	A5PKW4	PSD1_HUMAN	pleckstrin and Sec7 domain containing	150	Pro-rich.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane|ruffle	ARF guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|endometrium(2)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				Epithelial(162;1.27e-08)|all cancers(201;2.85e-07)		ATGCTTCCAGCCGTAACTTCC	0.667													T	104176346	C	T	104176346	2	4	364	1	0	0	0	0	0	0	0	1	12731	726	26	2		2	PSD	10	104176346	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18602	104176346	31358401	8092	31594											
CUEDC2	79004	broad.mit.edu	37	chr10	104184302	104184302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagagcttctgcatcatGtcccctattgtgcccctgaa	7	12	8	14	0	2	2	1	2	1	1	3	3	3	2	5	0	3	2	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104184302G>A	ENST00000369937.4	-	4	379	c.234C>T	c.(232-234)gaC>gaT	p.D78D		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	78						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCTGCATCATGTCCCCTATTG	0.582													A	104184302	G	A	104184302	2	1	364	1	0	0	0	0	0	0	0	1	4086	1368	48	2		2	CUEDC2	10	104184302	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7956	104184302	31350445	8093	31595											
SUFU	51684	broad.mit.edu	37	chr10	104386977	104386977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaaatgttggaggatttaGaagatttgacttctccagag	14	12	11	4	0	1	5	0	1	1	4	2	7	1	7	1	2	0	1	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104386977G>A	ENST00000369902.3	+	11	1508	c.1342G>A	c.(1342-1344)Gaa>Aaa	p.E448K		NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	448					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		GGAGGATTTAGAAGATTTGAC	0.423			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				A	104386977	G	A	104386977	3	1	364	1	0	0	0	0	1	0	0	0	15464	943	33	2	1394	2	SUFU	10	104386977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202675	104386977	31147770	8094	31596											
TRIM8	81603	broad.mit.edu	37	chr10	104414976	104414976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagaacgcagcgcaggCgctgcacctcggggagcgca	9	2	16	14	6	0	1	0	0	0	1	1	3	0	2	1	3	5	5	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104414976C>T	ENST00000302424.7	+	3	928	c.806C>T	c.(805-807)gCg>gTg	p.A269V	TRIM8_ENST00000487927.1_3'UTR	NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GCAGCGCAGGCGCTGCACCTC	0.622													T	104414976	C	T	104414976	3	4	364	1	0	0	0	0	1	0	0	0	16649	768	27	1	816	1	TRIM8	10	104414976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27999	104414976	31119771	8095	31597											
TRIM8	81603	broad.mit.edu	37	chr10	104416970	104416970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaggagtactcacacccGctcccgcccacaccctccgt	7	6	7	21	4	1	0	1	0	0	0	4	1	3	1	5	1	1	3	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:104416970G>A	ENST00000302424.7	+	6	1637	c.1515G>A	c.(1513-1515)ccG>ccA	p.P505P		NM_030912.2	NP_112174.2	Q9BZR9	TRIM8_HUMAN	tripartite motif containing 8							cytoplasm|PML body	ligase activity|protein homodimerization activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		ACTCACACCCGCTCCCGCCCA	0.667													A	104416970	G	A	104416970	2	1	364	1	0	0	0	0	0	0	0	1	16649	1074	38	1		1	TRIM8	10	104416970	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1994	104416970	31117777	8096	31598											
PCGF6	84108	broad.mit.edu	37	chr10	105086326	105086326	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagacccatttttcttctgaGgaatttttctacatgtccaa	11	16	5	9	0	3	2	0	1	3	1	4	3	4	3	2	1	1	0	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105086326G>T	ENST00000369847.3	-	8	941	c.874C>A	c.(874-876)Ctc>Atc	p.L292I	PCGF6_ENST00000490296.1_5'UTR|PCGF6_ENST00000337211.4_Missense_Mutation_p.L217I	NM_001011663.1	NP_001011663.1	Q9BYE7	PCGF6_HUMAN	polycomb group ring finger 6	292					negative regulation of transcription, DNA-dependent	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)	8		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;2.57e-09)|all cancers(201;7.21e-08)|BRCA - Breast invasive adenocarcinoma(275;0.205)		TTTCTTCTGAGGAATTTTTCT	0.348													T	105086326	G	T	105086326	3	4	364	1	0	0	0	0	1	0	0	0	11654	1000	35	4	190	4	PCGF6	10	105086326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	669356	105086326	30448421	8097	31599											
PDCD11	22984	broad.mit.edu	37	chr10	105160228	105160228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaacaaaaaagttgaaaatCgaaaagagagaaagcagcaa	26	3	8	4	1	0	3	0	1	0	2	1	5	0	3	0	0	3	3	0	0	11	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105160228C>T	ENST00000369797.3	+	3	271	c.177C>T	c.(175-177)atC>atT	p.I59I		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	59					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGTTGAAAATCGAAAAGAGAG	0.418													T	105160228	C	T	105160228	2	4	364	1	0	0	0	0	0	0	0	1	11693	874	31	1		1	PDCD11	10	105160228	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73902	105160228	30374519	8098	31600											
PDCD11	22984	broad.mit.edu	37	chr10	105176259	105176259	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctaggttttgctttgTgaccctgaagccaagaagct	8	12	9	12	0	0	3	0	2	0	1	1	3	1	3	4	1	3	3	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105176259T>C	ENST00000369797.3	+	13	1624	c.1530T>C	c.(1528-1530)tgT>tgC	p.C510C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	510	S1 motif 5.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TTTTGCTTTGTGACCCTGAAG	0.488											OREG0020494	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	105176259	T	C	105176259	2	2	364	1	0	0	0	0	0	0	0	1	11693	1702	59	3		3	PDCD11	10	105176259	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16031	105176259	30358488	8099	31601											
PDCD11	22984	broad.mit.edu	37	chr10	105185237	105185237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgaaggttgggaagaCggtcactgcccgagtgattg	10	8	15	8	2	1	3	1	2	0	1	1	5	1	4	1	3	2	2	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105185237C>T	ENST00000369797.3	+	20	3354	c.3260C>T	c.(3259-3261)aCg>aTg	p.T1087M		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1087	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GTTGGGAAGACGGTCACTGCC	0.532													T	105185237	C	T	105185237	3	4	364	1	0	0	0	0	1	0	0	0	11693	536	19	1	3334	1	PDCD11	10	105185237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8978	105185237	30349510	8100	31602											
PDCD11	22984	broad.mit.edu	37	chr10	105199624	105199624	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcacagccagggtcctaCggtaggtgccttcccgttct	5	11	11	14	2	2	0	1	0	1	0	4	0	4	0	4	3	4	3	4	3	2	4	rs113940597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105199624C>T	ENST00000369797.3	+	28	4241	c.4147C>T	c.(4147-4149)Cgc>Tgc	p.R1383C		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1383	S1 motif 12.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGGTCCTACGGTAGGTGCC	0.522													T	105199624	C	T	105199624	5	4	364	1	0	0	0	0	0	0	1	0	11693	550	19	1	4253	1	PDCD11	10	105199624	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14387	105199624	30335123	8101	31603											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105361942	105361942	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggagttccgtcggacGcctcggaggccatcagtggc	8	6	16	11	4	1	0	1	0	0	0	4	4	2	4	3	6	0	1	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105361942G>A	ENST00000369774.4	-	15	3309	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.G878G|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.G983G|SH3PXD2A_ENST00000538130.1_Silent_p.G846G			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	1011					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TCCGTCGGACGCCTCGGAGGC	0.677													A	105361942	G	A	105361942	2	1	364	1	0	0	0	0	0	0	0	1	14350	1074	38	1		1	SH3PXD2A	10	105361942	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	162318	105361942	30172805	8102	31604											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362350	105362350	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcacataccaccacccGctctcctgcttctccagcac	9	8	3	21	1	3	0	1	0	2	0	5	0	3	0	6	0	4	3	6	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362350G>A	ENST00000369774.4	-	15	2901	c.2625C>T	c.(2623-2625)agC>agT	p.S875S	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Silent_p.S742S|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.S847S|SH3PXD2A_ENST00000538130.1_Silent_p.S710S			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	875	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		ACCACCACCCGCTCTCCTGCT	0.617													A	105362350	G	A	105362350	2	1	364	1	0	0	0	0	0	0	0	1	14350	1078	38	1		1	SH3PXD2A	10	105362350	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	408	105362350	30172397	8103	31605											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362637	105362637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtgggtctcagctggcGccgtaaagtgctgatgtcca	6	10	14	11	2	1	1	1	1	1	0	3	1	2	1	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105362637G>A	ENST00000369774.4	-	15	2614	c.2338C>T	c.(2338-2340)Cgc>Tgc	p.R780C	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.R647C|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.R752C|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.R615C			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	780					cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		CTCAGCTGGCGCCGTAAAGTG	0.642													A	105362637	G	A	105362637	3	1	364	1	0	0	0	0	1	0	0	0	14350	1087	38	1	1067	1	SH3PXD2A	10	105362637	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	287	105362637	30172110	8104	31606											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105377025	105377025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctcaaagccaatctcGtccttgctttggctggtgta	6	14	8	13	1	2	0	1	0	2	0	5	0	3	0	3	2	2	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105377025G>A	ENST00000369774.4	-	11	1125	c.849C>T	c.(847-849)gaC>gaT	p.D283D	SH3PXD2A_ENST00000427662.2_Silent_p.D145D|SH3PXD2A_ENST00000540321.1_Silent_p.D150D|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000355946.2_Silent_p.D255D|SH3PXD2A_ENST00000538130.1_Silent_p.D118D			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	283	SH3 2.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		AGCCAATCTCGTCCTTGCTTT	0.527													A	105377025	G	A	105377025	2	1	364	1	0	0	0	0	0	0	0	1	14350	1136	40	1		1	SH3PXD2A	10	105377025	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14388	105377025	30157722	8105	31607											
OBFC1	79991	broad.mit.edu	37	chr10	105677256	105677256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctccttcatgtccaggatatCcctgatgtagagttttgcaa	9	14	8	10	0	1	2	1	1	0	1	4	3	4	3	3	1	1	3	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105677256C>T	ENST00000224950.3	-	2	264	c.97G>A	c.(97-99)Gat>Aat	p.D33N	OBFC1_ENST00000466828.1_5'UTR|OBFC1_ENST00000369764.1_Missense_Mutation_p.D33N	NM_024928.4	NP_079204.2	Q9H668	STN1_HUMAN	oligonucleotide/oligosaccharide-binding fold containing 1	33					positive regulation of DNA replication|telomere maintenance via telomere lengthening		protein binding|single-stranded telomeric DNA binding			large_intestine(3)|lung(7)|ovary(1)|pancreas(2)	13		Colorectal(252;0.178)		Epithelial(162;3.39e-10)|all cancers(201;1.32e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0151)		TCCAGGATATCCCTGATGTAG	0.562													T	105677256	C	T	105677256	3	4	364	1	0	0	0	0	1	0	0	0	10883	855	30	2	1045	2	OBFC1	10	105677256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300231	105677256	29857491	8106	31608											
SLK	9748	broad.mit.edu	37	chr10	105765355	105765355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaacattgaagaaaacaCgcaaatttattgttgatggt	18	11	8	4	1	0	4	0	2	0	2	0	4	0	4	0	1	2	2	0	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105765355C>T	ENST00000369755.3	+	10	2931	c.2386C>T	c.(2386-2388)Cgc>Tgc	p.R796C	SLK_ENST00000335753.4_Missense_Mutation_p.R796C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	796					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAGAAAACACGCAAATTTAT	0.333													T	105765355	C	T	105765355	3	4	364	1	0	0	0	0	1	0	0	0	14842	536	19	1	2424	1	SLK	10	105765355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88099	105765355	29769392	8107	31609											
SLK	9748	broad.mit.edu	37	chr10	105785379	105785379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggaacaggaagtattCtttaaaatgactggggagtc	14	10	11	6	0	1	1	0	1	1	0	2	4	1	4	0	4	2	1	0	4	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105785379C>A	ENST00000369755.3	+	19	4154	c.3609C>A	c.(3607-3609)ttC>ttA	p.F1203L	SLK_ENST00000335753.4_Missense_Mutation_p.F1172L	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1203					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AGGAAGTATTCTTTAAAATGA	0.388													A	105785379	C	A	105785379	3	1	364	1	0	0	0	0	1	0	0	0	14842	912	32	4	3683	4	SLK	10	105785379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20024	105785379	29749368	8108	31610											
COL17A1	1308	broad.mit.edu	37	chr10	105807859	105807859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccgtctgggccagcaGgacctggtaaagtagaagca	10	7	15	9	1	1	1	0	0	1	1	2	2	2	2	3	4	2	4	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:105807859G>T	ENST00000353479.5	-	30	2521	c.2231C>A	c.(2230-2232)cCt>cAt	p.P744H	MIR936_ENST00000401264.1_RNA|COL17A1_ENST00000369733.3_Missense_Mutation_p.P744H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	744	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGGGCCAGCAGGACCTGGTAA	0.582													T	105807859	G	T	105807859	3	4	364	1	0	0	0	0	1	0	0	0	3705	1000	35	4	2370	4	COL17A1	10	105807859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22480	105807859	29726888	8109	31611											
ITPRIP	85450	broad.mit.edu	37	chr10	106074250	106074250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcttgagcatctcataGaaggagtccagtgtcttacg	10	12	10	9	1	3	2	1	1	3	1	5	3	4	3	1	1	2	2	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074250G>T	ENST00000278071.2	-	3	2012	c.1560C>A	c.(1558-1560)ttC>ttA	p.F520L	ITPRIP_ENST00000358187.2_Missense_Mutation_p.F520L|ITPRIP_ENST00000337478.1_Missense_Mutation_p.F520L	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	520						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GCATCTCATAGAAGGAGTCCA	0.562													T	106074250	G	T	106074250	3	4	364	1	0	0	0	0	1	0	0	0	7981	933	33	4	87	4	ITPRIP	10	106074250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266391	106074250	29460497	8110	31612											
ITPRIP	85450	broad.mit.edu	37	chr10	106074366	106074366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggcctcaggcaccttgcGgttgccgatgaagaagtggt	8	9	14	10	2	1	2	1	1	0	1	1	3	1	2	3	4	2	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106074366G>A	ENST00000278071.2	-	3	1896	c.1444C>T	c.(1444-1446)Cgc>Tgc	p.R482C	ITPRIP_ENST00000358187.2_Missense_Mutation_p.R482C|ITPRIP_ENST00000337478.1_Missense_Mutation_p.R482C	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	482						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						GGCACCTTGCGGTTGCCGATG	0.622													A	106074366	G	A	106074366	3	1	364	1	0	0	0	0	1	0	0	0	7981	1116	39	1	203	1	ITPRIP	10	106074366	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116	106074366	29460381	8111	31613											
CCDC147	159686	broad.mit.edu	37	chr10	106118367	106118367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgatcagaccaccattgCatccctaaagaaggtcagtg	13	8	10	10	0	2	3	2	1	0	2	3	4	3	4	3	2	1	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106118367C>T	ENST00000369704.3	+	2	412	c.278C>T	c.(277-279)gCa>gTa	p.A93V	CCDC147_ENST00000312902.5_5'UTR	NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	93										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACCACCATTGCATCCCTAAAG	0.428													T	106118367	C	T	106118367	3	4	364	1	0	0	0	0	1	0	0	0	2807	710	25	2	284	2	CCDC147	10	106118367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44001	106118367	29416380	8112	31614											
CCDC147	159686	broad.mit.edu	37	chr10	106207489	106207489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacatggaactaaagcacGtcttggcccgccagcctgga	10	8	10	13	2	2	0	0	0	2	0	2	2	2	2	3	3	4	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106207489G>A	ENST00000369704.3	+	16	2424	c.2290G>A	c.(2290-2292)Gtc>Atc	p.V764I		NM_001008723.1	NP_001008723.1	Q5T655	CC147_HUMAN	coiled-coil domain containing 147	764										NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	52		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;7.55e-10)|all cancers(201;3.37e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0189)		ACTAAAGCACGTCTTGGCCCG	0.532													A	106207489	G	A	106207489	3	1	364	1	0	0	0	0	1	0	0	0	2807	1145	40	1	2352	1	CCDC147	10	106207489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89122	106207489	29327258	8113	31615											
SORCS3	22986	broad.mit.edu	37	chr10	106849576	106849576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggcggacctggtgcacatgGaggtgcggaccacggatgga	9	5	18	9	3	0	0	0	0	0	0	0	5	0	5	2	8	2	1	2	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106849576G>A	ENST00000369701.3	+	6	1299	c.1072G>A	c.(1072-1074)Gag>Aag	p.E358K		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	358						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GGTGCACATGGAGGTGCGGAC	0.557													A	106849576	G	A	106849576	3	1	364	1	0	0	0	0	1	0	0	0	15026	1175	41	2	1094	2	SORCS3	10	106849576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	642087	106849576	28685171	8114	31616											
SORCS3	22986	broad.mit.edu	37	chr10	106937890	106937890	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttcctctctttgttgaCggggctctggtggaggcagg	3	13	16	9	2	2	1	0	1	2	0	5	2	3	2	1	7	0	4	1	7	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:106937890C>T	ENST00000369701.3	+	14	2195	c.1968C>T	c.(1966-1968)gaC>gaT	p.D656D	SORCS3_ENST00000369699.4_Intron	NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	656						integral to membrane	neuropeptide receptor activity	p.D656D(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTTTGTTGACGGGGCTCTGG	0.473													T	106937890	C	T	106937890	2	4	364	1	0	0	0	0	0	0	0	1	15026	535	19	1		1	SORCS3	10	106937890	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88314	106937890	28596857	8115	31617											
SORCS3	22986	broad.mit.edu	37	chr10	107016646	107016646	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctattatcagtggtatttgTtggcctggctgtgtttttga	5	19	12	5	0	1	1	1	1	0	0	1	1	1	1	1	3	0	5	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107016646T>C	ENST00000369701.3	+	25	3634	c.3407T>C	c.(3406-3408)gTt>gCt	p.V1136A		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1136						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		GTGGTATTTGTTGGCCTGGCT	0.418													C	107016646	T	C	107016646	3	2	364	1	0	0	0	0	1	0	0	0	15026	1725	60	3	3505	3	SORCS3	10	107016646	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	78756	107016646	28518101	8116	31618											
SORCS3	22986	broad.mit.edu	37	chr10	107023071	107023071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttctcttctctgcaggagGcattgccactattgcaaaca	9	13	7	12	0	3	0	0	0	3	0	5	1	3	1	1	2	4	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:107023071G>A	ENST00000369701.3	+	27	3835	c.3608G>A	c.(3607-3609)gGc>gAc	p.G1203D		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	1203						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TCTGCAGGAGGCATTGCCACT	0.468													A	107023071	G	A	107023071	3	1	364	1	0	0	0	0	1	0	0	0	15026	1203	42	2	3714	2	SORCS3	10	107023071	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6425	107023071	28511676	8117	31619											
SORCS1	114815	broad.mit.edu	37	chr10	108337255	108337255	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcttgctctttgcaatcGgagagatgagtcaccaggtt	8	13	12	8	1	3	2	1	1	2	1	4	4	3	3	1	2	2	3	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108337255G>A	ENST00000263054.6	-	26	3437	c.3430C>T	c.(3430-3432)Cga>Tga	p.R1144*	SORCS1_ENST00000344440.6_Intron|SORCS1_ENST00000369698.1_3'UTR	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1144						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		CTTTGCAATCGGAGAGATGAG	0.507													A	108337255	G	A	108337255	4	1	364	1	0	0	0	0	0	1	0	0	15024	1124	39	1	149	1	SORCS1	10	108337255	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1314184	108337255	27197492	8118	31620											
SORCS1	114815	broad.mit.edu	37	chr10	108357111	108357111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggacatggacactgacccGctgttaagtgagcagcatgg	10	7	14	10	2	0	2	0	2	0	0	0	4	0	4	1	3	2	4	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:108357111G>A	ENST00000263054.6	-	24	3270	c.3263C>T	c.(3262-3264)gCg>gTg	p.A1088V	SORCS1_ENST00000344440.6_Missense_Mutation_p.A1088V|SORCS1_ENST00000369698.1_Missense_Mutation_p.A623V	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1088						integral to membrane	neuropeptide receptor activity|protein binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACACTGACCCGCTGTTAAGTG	0.517													A	108357111	G	A	108357111	3	1	364	1	0	0	0	0	1	0	0	0	15024	1087	38	1	489	1	SORCS1	10	108357111	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19856	108357111	27177636	8119	31621											
XPNPEP1	7511	broad.mit.edu	37	chr10	111629770	111629770	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaattccaaaagccccatCttcatagtacccgggctcta	11	9	7	14	2	3	0	1	0	2	0	4	1	4	0	4	1	2	2	4	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111629770C>A	ENST00000369680.4	-	19	1833	c.1585G>T	c.(1585-1587)Gat>Tat	p.D529Y	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.D458Y|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.D548Y|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.D572Y	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	529					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.D529Y(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AAAGCCCCATCTTCATAGTAC	0.403													A	111629770	C	A	111629770	3	1	364	1	0	0	0	0	1	0	0	0	17544	913	32	4	298	4	XPNPEP1	10	111629770	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3272659	111629770	23904977	8120	31622											
XPNPEP1	7511	broad.mit.edu	37	chr10	111631574	111631574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttccagtcgggaaaacggCtgcactcacagctatgtggc	9	8	13	11	2	1	0	1	0	0	0	3	1	2	1	1	4	3	4	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111631574C>T	ENST00000369680.4	-	17	1617	c.1369G>A	c.(1369-1371)Gcc>Acc	p.A457T	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.A386T|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.A476T|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.A500T	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	457					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGGAAAACGGCTGCACTCACA	0.463													T	111631574	C	T	111631574	3	4	364	1	0	0	0	0	1	0	0	0	17544	797	28	2	522	2	XPNPEP1	10	111631574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1804	111631574	23903173	8121	31623											
XPNPEP1	7511	broad.mit.edu	37	chr10	111637817	111637817	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacaccacctttgggaacCtatgagaaaattgcttataa	14	11	7	9	0	1	1	1	1	0	1	1	3	1	2	3	1	2	1	3	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111637817C>A	ENST00000369680.4	-	13	1302		c.e13-1		XPNPEP1_ENST00000369683.1_Splice_Site|XPNPEP1_ENST00000322238.8_Splice_Site|XPNPEP1_ENST00000502935.1_Splice_Site	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble						bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		CTTTGGGAACCTATGAGAAAA	0.443													A	111637817	C	A	111637817	5	1	364	1	0	0	0	0	0	0	1	0	17544	695	24	4	854	4	XPNPEP1	10	111637817	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6243	111637817	23896930	8122	31624											
XPNPEP1	7511	broad.mit.edu	37	chr10	111642355	111642355	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaagtcaagaagcaggtgCtccttcacactgggggcgtc	9	7	12	13	1	2	1	2	0	0	1	4	1	3	1	2	3	2	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111642355C>T	ENST00000369680.4	-	10	995	c.747G>A	c.(745-747)gaG>gaA	p.E249E	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Silent_p.E178E|XPNPEP1_ENST00000322238.8_Silent_p.E292E|XPNPEP1_ENST00000502935.1_Silent_p.E292E	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	249					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GAAGCAGGTGCTCCTTCACAC	0.557													T	111642355	C	T	111642355	2	4	364	1	0	0	0	0	0	0	0	1	17544	796	28	2		2	XPNPEP1	10	111642355	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4538	111642355	23892392	8123	31625											
ADD3	120	broad.mit.edu	37	chr10	111872641	111872641	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcagattacatcatggccaAttctttctcgggtttttctt	7	18	7	9	1	4	1	1	0	3	1	5	1	4	1	1	2	2	2	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111872641A>G	ENST00000277900.8	+	3	667	c.302A>G	c.(301-303)aAt>aGt	p.N101S	ADD3_ENST00000497125.1_3'UTR|ADD3_ENST00000360162.3_Missense_Mutation_p.N101S|ADD3_ENST00000356080.4_Missense_Mutation_p.N101S	NM_001121.2	NP_001112.2	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	101						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		ATCATGGCCAATTCTTTCTCG	0.393													G	111872641	A	G	111872641	3	3	364	1	0	0	0	0	1	0	0	0	306	101	4	3	308	3	ADD3	10	111872641	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	230286	111872641	23662106	8124	31626											
ADD3	120	broad.mit.edu	37	chr10	111892062	111892062	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactaaactcttatccaacaGatgctgagcaggaattactc	15	10	6	10	0	1	2	0	1	1	1	3	3	2	3	1	1	6	2	1	1	7	3	rs147358716		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:111892062G>T	ENST00000356080.4	+	14	2099		c.e14-1		ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)							cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		TTATCCAACAGATGCTGAGCA	0.383													T	111892062	G	T	111892062	5	4	364	1	0	0	0	0	0	0	1	0	306	956	33	4	1782	4	ADD3	10	111892062	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19421	111892062	23642685	8125	31627											
SMC3	9126	broad.mit.edu	37	chr10	112357911	112357911	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatatggattaataatgaaAttgatcagttgatgaaccaa	17	13	8	3	0	1	4	1	4	0	0	1	5	1	5	1	1	1	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112357911A>C	ENST00000361804.4	+	20	2257	c.2131A>C	c.(2131-2133)Att>Ctt	p.I711L		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	711					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TAATAATGAAATTGATCAGTT	0.323													C	112357911	A	C	112357911	3	2	364	1	0	0	0	0	1	0	0	0	14878	101	4	5	2209	5	SMC3	10	112357911	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	465849	112357911	23176836	8126	31628											
SMC3	9126	broad.mit.edu	37	chr10	112359426	112359426	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatagcaacgtagcttacaGagtttggaggcaagcttgca	13	10	11	7	1	0	1	0	0	0	1	0	2	0	2	0	2	6	7	0	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112359426G>T	ENST00000361804.4	+	21	2409	c.2283G>T	c.(2281-2283)caG>caT	p.Q761H		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	761					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		GTAGCTTACAGAGTTTGGAGG	0.353													T	112359426	G	T	112359426	3	4	364	1	0	0	0	0	1	0	0	0	14878	933	33	4	2365	4	SMC3	10	112359426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1515	112359426	23175321	8127	31629											
SMC3	9126	broad.mit.edu	37	chr10	112362340	112362340	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtctcaagatgaaggaGaagggagtggtgagagtgag	13	7	18	3	0	2	5	2	3	1	3	3	8	2	6	0	3	0	0	0	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112362340G>T	ENST00000361804.4	+	26	3340	c.3214G>T	c.(3214-3216)Gaa>Taa	p.E1072*		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1072					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AGATGAAGGAGAAGGGAGTGG	0.453													T	112362340	G	T	112362340	4	4	364	1	0	0	0	0	0	1	0	0	14878	943	33	4	3316	4	SMC3	10	112362340	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2914	112362340	23172407	8128	31630											
SMC3	9126	broad.mit.edu	37	chr10	112364052	112364052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagaagatgataccacaCatggttaattggaaaatact	16	12	8	5	0	0	3	0	1	0	2	0	4	0	4	1	2	2	2	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112364052C>T	ENST00000361804.4	+	29	3772	c.3646C>T	c.(3646-3648)Cat>Tat	p.H1216Y		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	1216					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		TGATACCACACATGGTTAATT	0.323													T	112364052	C	T	112364052	3	4	364	1	0	0	0	0	1	0	0	0	14878	478	17	2	3760	2	SMC3	10	112364052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1712	112364052	23170695	8129	31631											
PDCD4	27250	broad.mit.edu	37	chr10	112641242	112641242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccagtccaaagggaaggTtgctggataggcgatccaga	13	6	13	9	1	0	1	0	0	0	1	2	4	2	3	3	4	2	2	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112641242T>A	ENST00000393104.2	+	4	622	c.262T>A	c.(262-264)Ttg>Atg	p.L88M	PDCD4_ENST00000280154.7_Missense_Mutation_p.L99M	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	99					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		AAAGGGAAGGTTGCTGGATAG	0.483													A	112641242	T	A	112641242	3	1	364	1	0	0	0	0	1	0	0	0	11697	1722	60	5	315	5	PDCD4	10	112641242	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	277190	112641242	22893505	8130	31632											
PDCD4	27250	broad.mit.edu	37	chr10	112645010	112645010	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactcccttttcccctcaaaGgagaactgtgtttatgaaac	11	13	6	11	0	1	2	1	1	0	1	3	3	3	2	3	1	3	1	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112645010G>T	ENST00000393104.2	+	6	768		c.e6-1		PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Splice_Site	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)						apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TCCCCTCAAAGGAGAACTGTG	0.328													T	112645010	G	T	112645010	5	4	364	1	0	0	0	0	0	0	1	0	11697	1014	35	4	469	4	PDCD4	10	112645010	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3768	112645010	22889737	8131	31633											
PDCD4	27250	broad.mit.edu	37	chr10	112647497	112647497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtatccttagcattggaGgggaaggctagtcatagaga	12	9	14	6	0	1	1	1	0	0	1	2	4	2	3	1	4	1	4	1	4	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:112647497G>T	ENST00000393104.2	+	7	957	c.597G>T	c.(595-597)gaG>gaT	p.E199D	PDCD4_ENST00000481353.1_3'UTR|PDCD4_ENST00000280154.7_Missense_Mutation_p.E210D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	210	MI 1.				apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		TAGCATTGGAGGGGAAGGCTA	0.353													T	112647497	G	T	112647497	3	4	364	1	0	0	0	0	1	0	0	0	11697	991	35	4	662	4	PDCD4	10	112647497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2487	112647497	22887250	8132	31634											
GPAM	57678	broad.mit.edu	37	chr10	113932026	113932026	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaaagtgagcagcagAtagtcaatatgggatctatg	16	9	12	4	0	2	4	1	2	1	2	2	5	2	5	0	1	2	2	0	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:113932026A>G	ENST00000348367.4	-	9	905	c.708T>C	c.(706-708)taT>taC	p.Y236Y	GPAM_ENST00000423155.1_Silent_p.Y236Y|GPAM_ENST00000369425.1_Silent_p.Y236Y			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	236					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		TGAGCAGCAGATAGTCAATAT	0.373													G	113932026	A	G	113932026	2	3	364	1	0	0	0	0	0	0	0	1	6642	340	12	3		3	GPAM	10	113932026	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1284529	113932026	21602721	8133	31635											
ZDHHC6	64429	broad.mit.edu	37	chr10	114192146	114192146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttaccgtaaacctcttGtggctaaaatgaattcccct	11	14	5	11	1	1	1	0	1	1	0	2	1	2	1	4	1	3	2	4	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114192146G>A	ENST00000369405.3	-	9	1502	c.1079C>T	c.(1078-1080)aCa>aTa	p.T360I	ZDHHC6_ENST00000482410.1_5'UTR|ZDHHC6_ENST00000369404.3_Missense_Mutation_p.T356I	NM_022494.1	NP_071939.1	Q9H6R6	ZDHC6_HUMAN	zinc finger, DHHC-type containing 6	360						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Colorectal(252;0.198)		Epithelial(162;0.0291)|all cancers(201;0.117)		TAAACCTCTTGTGGCTAAAAT	0.368													A	114192146	G	A	114192146	3	1	364	1	0	0	0	0	1	0	0	0	17720	1377	48	2	174	2	ZDHHC6	10	114192146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260120	114192146	21342601	8134	31636											
VTI1A	143187	broad.mit.edu	37	chr10	114298078	114298078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggctggataccaaatagCagtggaaaccggtaagaatt	16	7	12	6	1	0	2	0	0	0	2	0	4	0	4	2	4	3	3	2	4	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114298078C>T	ENST00000393077.2	+	5	532	c.416C>T	c.(415-417)gCa>gTa	p.A139V	VTI1A_ENST00000432306.1_Missense_Mutation_p.A139V	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	139					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TACCAAATAGCAGTGGAAACC	0.438			T	TCF7L2	colorectal								T	114298078	C	T	114298078	3	4	364	1	0	0	0	0	1	0	0	0	17337	710	25	2	434	2	VTI1A	10	114298078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105932	114298078	21236669	8135	31637											
VTI1A	143187	broad.mit.edu	37	chr10	114575091	114575091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtcatcctagggatcatCgtggtcatcaccatcctgat	8	12	8	13	2	4	1	4	1	0	0	8	2	6	2	3	2	0	0	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114575091C>T	ENST00000393077.2	+	8	719	c.603C>T	c.(601-603)atC>atT	p.I201I		NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	0					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		TAGGGATCATCGTGGTCATCA	0.458			T	TCF7L2	colorectal								T	114575091	C	T	114575091	2	4	364	1	0	0	0	0	0	0	0	1	17337	874	31	1		1	VTI1A	10	114575091	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277013	114575091	20959656	8136	31638											
TCF7L2	6934	broad.mit.edu	37	chr10	114710691	114710691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaacgaatcaaaacagctCctccgattccgaggtaggaa	16	6	9	10	3	1	1	1	0	0	1	4	5	4	2	3	2	3	2	3	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:114710691C>A	ENST00000545257.1	+	1	683	c.176C>A	c.(175-177)tCc>tAc	p.S59Y	TCF7L2_ENST00000542695.1_5'UTR|TCF7L2_ENST00000352065.5_Missense_Mutation_p.S59Y|TCF7L2_ENST00000349937.2_Missense_Mutation_p.S59Y|TCF7L2_ENST00000369397.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000534894.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000536810.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000369395.1_Missense_Mutation_p.S59Y|TCF7L2_ENST00000538897.1_Missense_Mutation_p.S59Y|RP11-57H14.2_ENST00000369391.3_RNA|TCF7L2_ENST00000355995.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000355717.4_Missense_Mutation_p.S59Y|TCF7L2_ENST00000543371.1_Missense_Mutation_p.S59Y			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	59					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		CAAAACAGCTCCTCCGATTCC	0.502			T	VTI1A	colorectal								A	114710691	C	A	114710691	3	1	364	1	0	0	0	0	1	0	0	0	15798	855	30	4	178	4	TCF7L2	10	114710691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135600	114710691	20824056	8137	31639											
HABP2	3026	broad.mit.edu	37	chr10	115341888	115341888	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactgctgcccactgcacCgagtaggtgccgctgggagc	6	7	13	15	2	1	0	1	0	0	0	1	2	1	1	3	2	5	4	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115341888C>T	ENST00000351270.3	+	9	1188	c.1092C>T	c.(1090-1092)acC>acT	p.T364T	HABP2_ENST00000541666.1_Intron|HABP2_ENST00000542051.1_Silent_p.T338T	NM_004132.3	NP_004123.1	Q14520	HABP2_HUMAN	hyaluronan binding protein 2	364	Peptidase S1.				cell adhesion|proteolysis	extracellular space	glycosaminoglycan binding|serine-type endopeptidase activity	p.T364T(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.0233)|Breast(234;0.0672)		Epithelial(162;0.00319)|all cancers(201;0.0112)		CCCACTGCACCGAGTAGGTGC	0.637													T	115341888	C	T	115341888	2	4	364	1	0	0	0	0	0	0	0	1	6993	639	23	1		1	HABP2	10	115341888	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	631197	115341888	20192859	8138	31640											
NRAP	4892	broad.mit.edu	37	chr10	115372045	115372045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagcctcaggtcttctGccaaggaagtgtactggggc	8	9	13	11	0	4	0	2	0	2	0	4	1	4	1	2	4	4	2	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115372045G>A	ENST00000369358.4	-	30	3714	c.3470C>T	c.(3469-3471)gCa>gTa	p.A1157V	NRAP_ENST00000360478.3_Missense_Mutation_p.A1114V|NRAP_ENST00000359988.3_Missense_Mutation_p.A1149V|NRAP_ENST00000369360.3_Missense_Mutation_p.A1122V			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	1149						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CAGGTCTTCTGCCAAGGAAGT	0.562													A	115372045	G	A	115372045	3	1	364	1	0	0	0	0	1	0	0	0	10714	1319	46	2	1798	2	NRAP	10	115372045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30157	115372045	20162702	8139	31641											
NRAP	4892	broad.mit.edu	37	chr10	115401192	115401192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccaactccttcatagcGgcctctcatgtggttctggt	7	13	8	13	1	3	0	2	0	2	0	5	0	4	0	3	3	3	1	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115401192G>A	ENST00000369358.4	-	13	1499	c.1255C>T	c.(1255-1257)Cgc>Tgc	p.R419C	NRAP_ENST00000360478.3_Missense_Mutation_p.R384C|NRAP_ENST00000359988.3_Missense_Mutation_p.R419C|NRAP_ENST00000369360.3_Missense_Mutation_p.R384C			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CCTTCATAGCGGCCTCTCATG	0.438													A	115401192	G	A	115401192	3	1	364	1	0	0	0	0	1	0	0	0	10714	1116	39	1	4057	1	NRAP	10	115401192	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29147	115401192	20133555	8140	31642											
NRAP	4892	broad.mit.edu	37	chr10	115406696	115406696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttacgtcactagcgagttCgtgagctttcttggcgttct	6	15	10	10	4	3	1	1	1	2	0	4	2	3	1	0	1	3	3	0	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115406696C>T	ENST00000369358.4	-	10	1223	c.979G>A	c.(979-981)Gaa>Aaa	p.E327K	NRAP_ENST00000360478.3_Missense_Mutation_p.E327K|NRAP_ENST00000359988.3_Missense_Mutation_p.E327K|NRAP_ENST00000369360.3_Missense_Mutation_p.E327K			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	327						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding	p.E327K(3)|p.E327*(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		CTAGCGAGTTCGTGAGCTTTC	0.527													T	115406696	C	T	115406696	3	4	364	1	0	0	0	0	1	0	0	0	10714	893	31	1	4345	1	NRAP	10	115406696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5504	115406696	20128051	8141	31643											
DCLRE1A	9937	broad.mit.edu	37	chr10	115594912	115594912	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcctcggaggtatcatCaatatccagcttccaatttc	11	13	6	11	1	2	1	2	1	0	0	7	2	5	2	3	2	1	2	3	2	5	4	rs113837788		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115594912C>A	ENST00000361384.2	-	9	4039	c.3122G>T	c.(3121-3123)tGa>tTa	p.*1041L	DCLRE1A_ENST00000369305.1_Nonstop_Mutation_p.*1041L	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	0					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		GAGGTATCATCAATATCCAGC	0.378								Other identified genes with known or suspected DNA repair function					A	115594912	C	A	115594912	4	1	364	1	0	0	0	0	0	0	0	0	4328	837	29	4	4	4	DCLRE1A	10	115594912	Nonstop_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188216	115594912	19939835	8142	31644											
DCLRE1A	9937	broad.mit.edu	37	chr10	115601313	115601313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgaacctaaaacatcaGcaatggctatgggcaaaaga	16	9	8	8	0	1	2	1	1	0	1	1	2	1	2	1	2	3	3	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115601313G>A	ENST00000361384.2	-	7	3589	c.2672C>T	c.(2671-2673)gCt>gTt	p.A891V	DCLRE1A_ENST00000369305.1_Missense_Mutation_p.A891V	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	891					cell division|mitosis	nucleus	hydrolase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TAAAACATCAGCAATGGCTAT	0.328								Other identified genes with known or suspected DNA repair function					A	115601313	G	A	115601313	3	1	364	1	0	0	0	0	1	0	0	0	4328	971	34	2	462	2	DCLRE1A	10	115601313	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6401	115601313	19933434	8143	31645											
NHLRC2	374354	broad.mit.edu	37	chr10	115639428	115639428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatatcatatatgtggcaGacactgaaaaccaccttata	17	11	5	8	0	1	2	1	1	0	1	1	2	1	2	2	1	1	1	2	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115639428G>T	ENST00000369301.3	+	4	1095	c.883G>T	c.(883-885)Gac>Tac	p.D295Y		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	295					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		ATATGTGGCAGACACTGAAAA	0.294													T	115639428	G	T	115639428	3	4	364	1	0	0	0	0	1	0	0	0	10482	942	33	4	897	4	NHLRC2	10	115639428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38115	115639428	19895319	8144	31646											
C10orf118	55088	broad.mit.edu	37	chr10	115894781	115894781	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattttgataattcatcttCtgttcttaatcgttcatctt	9	22	3	7	1	6	1	2	1	4	0	7	1	6	1	0	0	0	2	0	0	3	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115894781C>A	ENST00000369287.3	-	10	1812	c.1546G>T	c.(1546-1548)Gaa>Taa	p.E516*	C10orf118_ENST00000543782.1_Nonsense_Mutation_p.E114*	NM_018017.2	NP_060487.2	Q7Z3E2	CJ118_HUMAN	chromosome 10 open reading frame 118	516										NS(1)|autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(9)|ovary(2)	24		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0161)|all cancers(201;0.0397)		AATTCATCTTCTGTTCTTAAT	0.308													A	115894781	C	A	115894781	4	1	364	1	0	0	0	0	0	1	0	0	1598	922	32	4	1178	4	C10orf118	10	115894781	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255353	115894781	19639966	8145	31647											
TDRD1	56165	broad.mit.edu	37	chr10	115962043	115962043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctattgaaacaaaggatgtgGaggtaaacaataaggtatgg	17	9	12	3	0	0	1	0	1	0	0	0	3	0	3	0	5	2	2	0	5	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115962043G>A	ENST00000251864.2	+	6	835	c.682G>A	c.(682-684)Gag>Aag	p.E228K	TDRD1_ENST00000369280.1_Missense_Mutation_p.E228K|TDRD1_ENST00000369281.2_Missense_Mutation_p.E228K|TDRD1_ENST00000422662.1_5'UTR|TDRD1_ENST00000369282.1_Missense_Mutation_p.E228K	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	228					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		AAAGGATGTGGAGGTAAACAA	0.274													A	115962043	G	A	115962043	3	1	364	1	0	0	0	0	1	0	0	0	15830	1175	41	2	700	2	TDRD1	10	115962043	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67262	115962043	19572704	8146	31648											
TDRD1	56165	broad.mit.edu	37	chr10	115985936	115985936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaatcacctctagccacCtggcgcttcctttccaaatt	10	11	4	16	1	2	0	1	0	1	0	4	0	4	0	6	1	2	1	6	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:115985936C>A	ENST00000251864.2	+	22	3289	c.3136C>A	c.(3136-3138)Ctg>Atg	p.L1046M	TDRD1_ENST00000369280.1_Missense_Mutation_p.L1046M|TDRD1_ENST00000369281.2_Missense_Mutation_p.L932M|TDRD1_ENST00000422662.1_Missense_Mutation_p.L650M|TDRD1_ENST00000369282.1_Missense_Mutation_p.L1046M	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	1046	Tudor 4.				DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		CTCTAGCCACCTGGCGCTTCC	0.423													A	115985936	C	A	115985936	3	1	364	1	0	0	0	0	1	0	0	0	15830	680	24	4	3218	4	TDRD1	10	115985936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23893	115985936	19548811	8147	31649											
AFAP1L2	84632	broad.mit.edu	37	chr10	116056780	116056780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgcctgtgaccacgaccGagagaggcctgttcttgagt	7	11	12	11	2	1	3	0	2	1	1	1	6	1	3	4	1	1	1	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116056780G>A	ENST00000369271.3	-	18	2675	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	AFAP1L2_ENST00000545353.1_Missense_Mutation_p.S849L|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000304129.4_Missense_Mutation_p.S796L	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	796					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		GACCACGACCGAGAGAGGCCT	0.567													A	116056780	G	A	116056780	3	1	364	1	0	0	0	0	1	0	0	0	355	1059	37	1	77	1	AFAP1L2	10	116056780	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70844	116056780	19477967	8148	31650											
ABLIM1	3983	broad.mit.edu	37	chr10	116196050	116196050	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcttttttcttcatgtcgTtgcgtctccaaagaggtaac	7	17	8	9	2	3	1	1	0	2	1	5	1	3	1	1	1	3	3	1	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116196050T>C	ENST00000533213.2	-	23	2427	c.2126A>G	c.(2125-2127)aAc>aGc	p.N709S	ABLIM1_ENST00000277895.5_Missense_Mutation_p.N769S|ABLIM1_ENST00000369252.4_Missense_Mutation_p.N709S|ABLIM1_ENST00000369266.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000392952.3_Missense_Mutation_p.N446S|ABLIM1_ENST00000369253.2_Missense_Mutation_p.N392S			O14639	ABLM1_HUMAN	actin binding LIM protein 1	769					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		CTTCATGTCGTTGCGTCTCCA	0.453													C	116196050	T	C	116196050	3	2	364	1	0	0	0	0	1	0	0	0	94	1725	60	3	34	3	ABLIM1	10	116196050	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	139270	116196050	19338697	8149	31651											
FAM160B1	57700	broad.mit.edu	37	chr10	116590682	116590682	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attacccattactacatagaGacttcaggtaaggaacaatg	16	10	7	8	0	1	1	1	0	0	1	1	3	1	2	1	2	4	1	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116590682G>A	ENST00000369248.4	+	2	452	c.117G>A	c.(115-117)gaG>gaA	p.E39E	FAM160B1_ENST00000369250.3_Silent_p.E39E|FAM160B1_ENST00000369246.1_Silent_p.E39E	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	39				E -> G (in Ref. 1; CAI45992).				p.E39D(2)		NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						ACTACATAGAGACTTCAGGTA	0.308													A	116590682	G	A	116590682	2	1	364	1	0	0	0	0	0	0	0	1	5515	933	33	2		2	FAM160B1	10	116590682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	394632	116590682	18944065	8150	31652											
FAM160B1	57700	broad.mit.edu	37	chr10	116596000	116596000	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctggttaactttttcCtagaggtatgatacactttt	9	17	6	9	0	0	2	0	1	0	1	1	2	1	2	3	2	3	2	3	2	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116596000C>A	ENST00000369248.4	+	5	852	c.517C>A	c.(517-519)Cta>Ata	p.L173I	FAM160B1_ENST00000369250.3_Missense_Mutation_p.L173I	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	173										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						TAACTTTTTCCTAGAGGTATG	0.343													A	116596000	C	A	116596000	3	1	364	1	0	0	0	0	1	0	0	0	5515	680	24	4	535	4	FAM160B1	10	116596000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5318	116596000	18938747	8151	31653											
FAM160B1	57700	broad.mit.edu	37	chr10	116603563	116603563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtaagtttgccagagcctGcggctgcaaagtgccttaca	10	10	11	10	1	0	1	0	0	0	1	0	1	0	1	3	1	6	4	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:116603563G>A	ENST00000369248.4	+	7	1215	c.880G>A	c.(880-882)Gcg>Acg	p.A294T	FAM160B1_ENST00000369250.3_Missense_Mutation_p.A294T	NM_020940.3	NP_065991.3	Q5W0V3	F16B1_HUMAN	family with sequence similarity 160, member B1	294										NS(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)	25						GCCAGAGCCTGCGGCTGCAAA	0.473													A	116603563	G	A	116603563	3	1	364	1	0	0	0	0	1	0	0	0	5515	1319	46	2	906	2	FAM160B1	10	116603563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7563	116603563	18931184	8152	31654											
ATRNL1	26033	broad.mit.edu	37	chr10	117040979	117040979	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggatcagagacagcaaGaatgccaggctttaccaggt	13	7	13	8	0	1	2	1	0	0	2	1	4	1	3	2	3	3	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117040979G>T	ENST00000355044.3	+	14	2341	c.2215G>T	c.(2215-2217)Gaa>Taa	p.E739*		NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	739	PSI 3.					integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		GAGACAGCAAGAATGCCAGGC	0.358													T	117040979	G	T	117040979	4	4	364	1	0	0	0	0	0	1	0	0	1212	943	33	4	2269	4	ATRNL1	10	117040979	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	437416	117040979	18493768	8153	31655											
ATRNL1	26033	broad.mit.edu	37	chr10	117061554	117061554	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaactgccacctgctcccGtaagtatttatctagagtga	11	11	8	11	1	1	2	0	1	1	1	2	2	2	2	3	0	3	4	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117061554G>A	ENST00000355044.3	+	17	2944		c.e17+1		ATRNL1_ENST00000423111.2_Splice_Site|ATRNL1_ENST00000303745.7_Splice_Site	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1							integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		ACCTGCTCCCGTAAGTATTTA	0.363													A	117061554	G	A	117061554	5	1	364	1	0	0	0	0	0	0	1	0	1212	1159	40	1	2885	1	ATRNL1	10	117061554	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20575	117061554	18473193	8154	31656											
ATRNL1	26033	broad.mit.edu	37	chr10	117226752	117226752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaacattacgtggtctgtCggttcaacaggtaaaaaaat	14	11	8	8	2	3	0	2	0	1	0	4	0	3	0	0	3	3	2	0	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117226752C>T	ENST00000355044.3	+	23	3612	c.3486C>T	c.(3484-3486)gtC>gtT	p.V1162V	ATRNL1_ENST00000423111.2_Silent_p.V213V|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1162						integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CGTGGTCTGTCGGTTCAACAG	0.294													T	117226752	C	T	117226752	2	4	364	1	0	0	0	0	0	0	0	1	1212	871	31	1		1	ATRNL1	10	117226752	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165198	117226752	18307995	8155	31657											
GFRA1	2674	broad.mit.edu	37	chr10	117884797	117884797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcttctccctctcttcAtaggagcacacaggcacgat	8	11	9	13	1	3	0	1	0	2	0	5	2	3	1	1	3	1	3	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:117884797A>G	ENST00000439649.3	-	5	1057	c.690T>C	c.(688-690)taT>taC	p.Y230Y	GFRA1_ENST00000355422.6_Silent_p.Y235Y|GFRA1_ENST00000369236.1_Silent_p.Y230Y|GFRA1_ENST00000544592.1_Silent_p.Y114Y	NM_001145453.1	NP_001138925.1	P56159	GFRA1_HUMAN	GDNF family receptor alpha 1	235					axon guidance	anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			endometrium(2)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(174;0.21)		all cancers(201;0.0337)		CCCTCTCTTCATAGGAGCACA	0.557													G	117884797	A	G	117884797	2	3	364	1	0	0	0	0	0	0	0	1	6403	224	8	3		3	GFRA1	10	117884797	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	658045	117884797	17649950	8156	31658											
PNLIPRP3	119548	broad.mit.edu	37	chr10	118225660	118225660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgcttatccttgtagaTcctacacatcttttaaagca	11	17	4	9	0	1	1	0	0	1	1	3	1	3	1	2	0	3	3	2	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118225660T>C	ENST00000369230.3	+	8	1053	c.907T>C	c.(907-909)Tcc>Ccc	p.S303P		NM_001011709.2	NP_001011709.2	Q17RR3	LIPR3_HUMAN	pancreatic lipase-related protein 3	303					lipid catabolic process	extracellular region	triglyceride lipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(29)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50				all cancers(201;0.0131)		TCCTTGTAGATCCTACACATC	0.318													C	118225660	T	C	118225660	3	2	364	1	0	0	0	0	1	0	0	0	12229	1435	50	3	937	3	PNLIPRP3	10	118225660	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	340863	118225660	17309087	8157	31659											
PNLIP	5406	broad.mit.edu	37	chr10	118321149	118321149	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagacaaatgttggaaaacaGtaagtaatgaaaatcccagg	19	7	10	5	0	0	2	0	1	0	1	1	4	1	3	1	2	1	3	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118321149G>A	ENST00000369221.2	+	12	1362		c.e12+1			NM_000936.2	NP_000927.1	P16233	LIPP_HUMAN	pancreatic lipase						lipid catabolic process|retinoid metabolic process|steroid metabolic process	extracellular region	retinyl-palmitate esterase activity|triglyceride lipase activity			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	43				all cancers(201;0.0131)	Bentiromide(DB00522)|Orlistat(DB01083)	TTGGAAAACAGTAAGTAATGA	0.363													A	118321149	G	A	118321149	5	1	364	1	0	0	0	0	0	0	1	0	12226	1043	36	2	1377	2	PNLIP	10	118321149	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95489	118321149	17213598	8158	31660											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118359629	118359629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaagcatcctcaatccCgatgggtttgctgcatatcc	9	12	9	11	1	1	0	1	0	0	0	4	2	4	1	3	2	3	4	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118359629C>T	ENST00000528052.1	+	9	956	c.885C>T	c.(883-885)ccC>ccT	p.P295P	PNLIPRP1_ENST00000534537.1_Silent_p.P295P|PNLIPRP1_ENST00000358834.4_Silent_p.P295P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	295					lipid metabolic process		calcium ion binding|triglyceride lipase activity	p.P295P(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		TCCTCAATCCCGATGGGTTTG	0.488													T	118359629	C	T	118359629	2	4	364	1	0	0	0	0	0	0	0	1	12227	639	23	1		1	PNLIPRP1	10	118359629	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38480	118359629	17175118	8159	31661											
HSPA12A	259217	broad.mit.edu	37	chr10	118434331	118434331	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcccaactttgacactcttCgaagtggctatatcaatggc	11	12	7	11	1	2	1	1	1	1	0	4	2	3	1	1	2	1	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118434331C>T	ENST00000369209.3	-	12	2093	c.1989G>A	c.(1987-1989)tcG>tcA	p.S663S		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	663							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TGACACTCTTCGAAGTGGCTA	0.557													T	118434331	C	T	118434331	2	4	364	1	0	0	0	0	0	0	0	1	7461	871	31	1		1	HSPA12A	10	118434331	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74702	118434331	17100416	8160	31662											
HSPA12A	259217	broad.mit.edu	37	chr10	118441355	118441355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctccaccaaaaaggtcCgactctgccgattacgccgt	10	9	7	15	4	2	0	0	0	2	0	4	2	3	0	5	1	2	0	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118441355C>T	ENST00000369209.3	-	8	973	c.869G>A	c.(868-870)cGg>cAg	p.R290Q		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	290							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		CAAAAAGGTCCGACTCTGCCG	0.473											OREG0020558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118441355	C	T	118441355	3	4	364	1	0	0	0	0	1	0	0	0	7461	652	23	1	1178	1	HSPA12A	10	118441355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7024	118441355	17093392	8161	31663											
HSPA12A	259217	broad.mit.edu	37	chr10	118451868	118451868	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactctaccctcacctggtaGgcagcttgtctcatgaactg	8	11	9	13	0	3	1	2	1	2	0	4	2	3	1	2	2	3	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118451868G>T	ENST00000369209.3	-	6	761	c.657C>A	c.(655-657)gcC>gcA	p.A219A		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	219							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		TCACCTGGTAGGCAGCTTGTC	0.597													T	118451868	G	T	118451868	2	4	364	1	0	0	0	0	0	0	0	1	7461	987	35	4		4	HSPA12A	10	118451868	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10513	118451868	17082879	8162	31664											
HSPA12A	259217	broad.mit.edu	37	chr10	118464710	118464710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgaagctgtaggcatagCcactggatgtggtcccaaag	10	9	14	8	0	0	1	0	1	0	0	1	2	1	2	2	4	2	3	2	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118464710C>T	ENST00000369209.3	-	3	310	c.206G>A	c.(205-207)gGc>gAc	p.G69D		NM_025015.2	NP_079291.2	O43301	HS12A_HUMAN	heat shock 70kDa protein 12A	69							ATP binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32				all cancers(201;0.0158)		GTAGGCATAGCCACTGGATGT	0.567													T	118464710	C	T	118464710	3	4	364	1	0	0	0	0	1	0	0	0	7461	739	26	2	1861	2	HSPA12A	10	118464710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12842	118464710	17070037	8163	31665											
KIAA1598	57698	broad.mit.edu	37	chr10	118700088	118700088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagctctgcagcagaaggtgGctttgtctctttagcttgtt	6	15	12	8	0	2	1	0	0	2	1	3	2	2	1	0	2	4	6	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118700088G>A	ENST00000355371.4	-	9	1244	c.747C>T	c.(745-747)agC>agT	p.S249S	KIAA1598_ENST00000392903.2_Silent_p.S249S|KIAA1598_ENST00000260777.10_Silent_p.S249S|KIAA1598_ENST00000497044.1_5'UTR|KIAA1598_ENST00000392901.4_Silent_p.S189S	NM_001127211.2|NM_001258298.1|NM_001258299.1	NP_001120683.1|NP_001245227.1|NP_001245228.1	A0MZ66	SHOT1_HUMAN	KIAA1598	249					axon guidance	axon				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)	10				all cancers(201;0.00494)		GCAGAAGGTGGCTTTGTCTCT	0.398													A	118700088	G	A	118700088	2	1	364	1	0	0	0	0	0	0	0	1	8304	1194	42	2		2	KIAA1598	10	118700088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235378	118700088	16834659	8164	31666											
KCNK18	338567	broad.mit.edu	37	chr10	118960677	118960677	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctttctccagtggtggaAgacagaaaacaggatctcca	12	10	10	9	0	3	2	0	0	3	2	5	4	3	4	2	3	1	0	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:118960677A>G	ENST00000334549.1	+	2	231	c.231A>G	c.(229-231)gaA>gaG	p.E77E		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	77						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CAGTGGTGGAAGACAGAAAAC	0.517													G	118960677	A	G	118960677	2	3	364	1	0	0	0	0	0	0	0	1	8123	69	3	3		3	KCNK18	10	118960677	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	260589	118960677	16574070	8165	31667											
SLC18A2	6571	broad.mit.edu	37	chr10	119015149	119015149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacgctgctgaaggacccGtacatcctcattgctgcagg	9	8	10	14	2	1	1	1	1	0	0	2	2	2	2	3	2	4	5	3	2	2	2	rs149854149	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119015149G>A	ENST00000298472.5	+	9	1019	c.876G>A	c.(874-876)ccG>ccA	p.P292P	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	292					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TGAAGGACCCGTACATCCTCA	0.617													A	119015149	G	A	119015149	2	1	364	1	0	0	0	0	0	0	0	1	14520	1132	40	1		1	SLC18A2	10	119015149	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54472	119015149	16519598	8166	31668											
SLC18A2	6571	broad.mit.edu	37	chr10	119036673	119036673	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcactttgctctcttttagGctattctcatggatcacaac	8	16	6	11	0	3	0	2	0	2	0	5	1	3	1	0	2	3	3	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119036673G>A	ENST00000298472.5	+	16	1584	c.1441G>A	c.(1441-1443)Gct>Act	p.A481T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	481					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	TCTCTTTTAGGCTATTCTCAT	0.313													A	119036673	G	A	119036673	5	1	364	1	0	0	0	0	0	0	1	0	14520	1217	42	2	1499	2	SLC18A2	10	119036673	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21524	119036673	16498074	8167	31669											
PDZD8	118987	broad.mit.edu	37	chr10	119043158	119043158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttctggatcctttcctctGtaggcaagcccctgtacaga	7	13	9	12	0	2	1	0	0	2	1	4	2	4	2	4	2	2	4	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043158G>A	ENST00000334464.5	-	5	3325	c.3086C>T	c.(3085-3087)aCa>aTa	p.T1029I		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	1029					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		CCTTTCCTCTGTAGGCAAGCC	0.398													A	119043158	G	A	119043158	3	1	364	1	0	0	0	0	1	0	0	0	11781	1377	48	2	382	2	PDZD8	10	119043158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6485	119043158	16491589	8168	31670											
PDZD8	118987	broad.mit.edu	37	chr10	119043323	119043323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccttcgttgtctgacGtgttgggtgtgtgttttggt	2	18	14	7	2	1	1	0	1	1	0	2	1	1	1	1	2	1	3	1	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119043323G>A	ENST00000334464.5	-	5	3160	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M		NM_173791.3	NP_776152.1	Q8NEN9	PDZD8_HUMAN	PDZ domain containing 8	974					intracellular signal transduction		metal ion binding			kidney(3)|large_intestine(8)|lung(24)|upper_aerodigestive_tract(3)	38		Colorectal(252;0.19)		all cancers(201;0.0121)		GTTGTCTGACGTGTTGGGTGT	0.458													A	119043323	G	A	119043323	3	1	364	1	0	0	0	0	1	0	0	0	11781	1145	40	1	547	1	PDZD8	10	119043323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165	119043323	16491424	8169	31671											
EMX2	2018	broad.mit.edu	37	chr10	119303166	119303166	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaccgctaccgatatCtgggtcatcgcttccaaggt	8	11	8	14	3	3	0	2	0	1	0	6	1	5	0	4	2	1	2	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119303166C>A	ENST00000553456.3	+	1	1212	c.388C>A	c.(388-390)Ctg>Atg	p.L130M	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Missense_Mutation_p.L130M	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	130						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		CTACCGATATCTGGGTCATCG	0.682													A	119303166	C	A	119303166	3	1	364	1	0	0	0	0	1	0	0	0	5149	912	32	4	390	4	EMX2	10	119303166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	259843	119303166	16231581	8170	31672											
EMX2	2018	broad.mit.edu	37	chr10	119305195	119305195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacgcgctggcccgaaaGcccaagcggatccgaaccgc	11	2	11	17	6	0	0	0	0	0	0	1	3	1	1	4	2	4	1	4	2	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119305195G>A	ENST00000553456.3	+	2	1283	c.459G>A	c.(457-459)aaG>aaA	p.K153K	EMX2_ENST00000442245.4_Intron|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	153						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TGGCCCGAAAGCCCAAGCGGA	0.607													A	119305195	G	A	119305195	2	1	364	1	0	0	0	0	0	0	0	1	5149	962	34	2		2	EMX2	10	119305195	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2029	119305195	16229552	8171	31673											
EMX2	2018	broad.mit.edu	37	chr10	119307642	119307642	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaggaagaaggctcaGattcgcaacaaaagaaaaaa	20	4	11	6	1	1	3	1	0	0	3	2	5	1	5	0	3	2	3	0	3	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119307642G>T	ENST00000553456.3	+	3	1482	c.658G>T	c.(658-660)Gat>Tat	p.D220Y	EMX2_ENST00000442245.4_Missense_Mutation_p.R158I|EMX2_ENST00000546446.1_3'UTR	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	220						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		AGAAGGCTCAGATTCGCAACA	0.488													T	119307642	G	T	119307642	3	4	364	1	0	0	0	0	1	0	0	0	5149	942	33	4	668	4	EMX2	10	119307642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2447	119307642	16227105	8172	31674											
RAB11FIP2	22841	broad.mit.edu	37	chr10	119799881	119799881	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaatgattgcagaagaCgtatcagaaaatgttccatc	14	11	9	7	1	1	4	1	1	0	3	3	5	2	5	1	1	1	3	1	1	5	4	rs146793744	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:119799881C>T	ENST00000355624.3	-	2	988	c.549G>A	c.(547-549)acG>acA	p.T183T	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Silent_p.T183T|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	183					protein transport	plasma membrane|recycling endosome membrane	protein homodimerization activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		TTGCAGAAGACGTATCAGAAA	0.353													T	119799881	C	T	119799881	2	4	364	1	0	0	0	0	0	0	0	1	12982	523	19	1		1	RAB11FIP2	10	119799881	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492239	119799881	15734866	8173	31675											
EIF3A	8661	broad.mit.edu	37	chr10	120801913	120801913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtcatcatccatcccaCgtcttggtcctctgtcctca	5	12	6	18	2	5	0	3	0	2	0	9	0	9	0	5	2	0	0	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120801913C>T	ENST00000369144.3	-	19	3246	c.3119G>A	c.(3118-3120)cGt>cAt	p.R1040H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R1006H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1040	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ATCCATCCCACGTCTTGGTCC	0.597													T	120801913	C	T	120801913	3	4	364	1	0	0	0	0	1	0	0	0	5051	536	19	1	1045	1	EIF3A	10	120801913	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1002032	120801913	14732834	8174	31676											
EIF3A	8661	broad.mit.edu	37	chr10	120802156	120802156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcatcatccatgccacgcCggggaacccgatcatcgtct	8	9	9	15	4	4	0	3	0	1	0	6	2	5	1	4	2	2	0	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120802156C>T	ENST00000369144.3	-	19	3003	c.2876G>A	c.(2875-2877)cGg>cAg	p.R959Q	EIF3A_ENST00000541549.1_Missense_Mutation_p.R925Q	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	959	25 X 10 AA approximate tandem repeats of [DE]-[DE]-[DE]-R-[SEVGFPILV]-[HPSN]- [RSW]-[RL]-[DRGTIHN]-[EPMANLGDT].|Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CATGCCACGCCGGGGAACCCG	0.582													T	120802156	C	T	120802156	3	4	364	1	0	0	0	0	1	0	0	0	5051	652	23	1	1288	1	EIF3A	10	120802156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243	120802156	14732591	8175	31677											
EIF3A	8661	broad.mit.edu	37	chr10	120818756	120818756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtttaatgacttcaagtgCttttgcaagtactgaggaca	11	14	10	6	0	1	2	1	2	0	0	1	3	1	3	0	2	3	4	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120818756C>T	ENST00000369144.3	-	11	1724	c.1597G>A	c.(1597-1599)Gca>Aca	p.A533T	EIF3A_ENST00000541549.1_Missense_Mutation_p.A499T	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	533					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACTTCAAGTGCTTTTGCAAGT	0.453													T	120818756	C	T	120818756	3	4	364	1	0	0	0	0	1	0	0	0	5051	797	28	2	2599	2	EIF3A	10	120818756	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16600	120818756	14715991	8176	31678											
EIF3A	8661	broad.mit.edu	37	chr10	120819204	120819204	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagtcaaacgagaaaaCtcaatgctctgataaatctg	19	8	7	7	1	4	3	2	1	2	2	4	4	4	3	0	0	3	1	0	0	8	1	rs61729177		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120819204C>T	ENST00000369144.3	-	10	1480	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	EIF3A_ENST00000541549.1_Silent_p.E417E	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	451	PCI.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AACGAGAAAACTCAATGCTCT	0.418													T	120819204	C	T	120819204	2	4	364	1	0	0	0	0	0	0	0	1	5051	564	20	2		2	EIF3A	10	120819204	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	448	120819204	14715543	8177	31679											
EIF3A	8661	broad.mit.edu	37	chr10	120830555	120830555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaattgtcacacagtttaCggaattcagccttacgcgtg	11	12	8	10	3	3	0	3	0	0	0	3	1	3	1	1	1	3	1	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120830555C>T	ENST00000369144.3	-	5	711	c.584G>A	c.(583-585)cGt>cAt	p.R195H	EIF3A_ENST00000541549.1_Missense_Mutation_p.R161H	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	195					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		ACACAGTTTACGGAATTCAGC	0.378													T	120830555	C	T	120830555	3	4	364	1	0	0	0	0	1	0	0	0	5051	536	19	1	3636	1	EIF3A	10	120830555	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11351	120830555	14704192	8178	31680											
EIF3A	8661	broad.mit.edu	37	chr10	120832515	120832515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccatggagttaaaagtaatCtgtcagtacgatcctgagtg	12	11	10	8	1	2	1	1	1	1	0	3	3	3	2	2	1	1	3	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:120832515C>T	ENST00000369144.3	-	4	555	c.428G>A	c.(427-429)aGa>aAa	p.R143K	EIF3A_ENST00000541549.1_Missense_Mutation_p.R109K	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	143					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TAAAAGTAATCTGTCAGTACG	0.393													T	120832515	C	T	120832515	3	4	364	1	0	0	0	0	1	0	0	0	5051	913	32	2	3796	2	EIF3A	10	120832515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1960	120832515	14702232	8179	31681											
GRK5	2869	broad.mit.edu	37	chr10	121182770	121182770	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagaactcttttctgcCtgtgcacagtaagtgccgta	10	12	9	10	1	2	1	0	0	2	1	2	1	2	1	2	0	5	4	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121182770C>A	ENST00000392870.2	+	5	761	c.432C>A	c.(430-432)gcC>gcA	p.A144A	GRK5_ENST00000369108.3_Silent_p.A39A	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	144	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCTTTTCTGCCTGTGCACAGT	0.582													A	121182770	C	A	121182770	2	1	364	1	0	0	0	0	0	0	0	1	6847	668	24	4		4	GRK5	10	121182770	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	350255	121182770	14351977	8180	31682											
GRK5	2869	broad.mit.edu	37	chr10	121184565	121184565	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctggacagcatgtttttTgaccgctttctccagtggaa	8	15	9	9	1	2	1	0	1	2	0	3	3	2	3	2	2	1	3	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121184565T>C	ENST00000392870.2	+	6	830	c.501T>C	c.(499-501)ttT>ttC	p.F167F	GRK5_ENST00000369108.3_Silent_p.F62F	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	167	N-terminal.|RGS.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GCATGTTTTTTGACCGCTTTC	0.463													C	121184565	T	C	121184565	2	2	364	1	0	0	0	0	0	0	0	1	6847	1809	63	3		3	GRK5	10	121184565	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1795	121184565	14350182	8181	31683											
GRK5	2869	broad.mit.edu	37	chr10	121189892	121189892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctttcttccaggcaacCggtgaccaaaaacactttca	11	12	5	13	1	4	1	1	1	3	0	5	1	5	1	3	2	2	1	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121189892C>T	ENST00000392870.2	+	7	868	c.539C>T	c.(538-540)cCg>cTg	p.P180L	GRK5_ENST00000369108.3_Missense_Mutation_p.P75L	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	180	N-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCAGGCAACCGGTGACCAAA	0.483													T	121189892	C	T	121189892	3	4	364	1	0	0	0	0	1	0	0	0	6847	652	23	1	565	1	GRK5	10	121189892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5327	121189892	14344855	8182	31684											
GRK5	2869	broad.mit.edu	37	chr10	121212232	121212232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgagcagttctccaCtgtgaagggcgtcaatctgg	9	9	13	10	2	3	1	1	1	2	0	5	3	3	2	1	3	1	2	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121212232C>T	ENST00000392870.2	+	14	1783	c.1454C>T	c.(1453-1455)aCt>aTt	p.T485I	GRK5_ENST00000473264.1_3'UTR|GRK5_ENST00000369108.3_Missense_Mutation_p.T380I	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	485	AGC-kinase C-terminal.				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAGTTCTCCACTGTGAAGGGC	0.602													T	121212232	C	T	121212232	3	4	364	1	0	0	0	0	1	0	0	0	6847	565	20	2	1508	2	GRK5	10	121212232	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22340	121212232	14322515	8183	31685											
GRK5	2869	broad.mit.edu	37	chr10	121214505	121214505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaacaattccaagagttcgCccagctccaagaccagtttt	13	9	7	12	1	0	3	0	0	0	3	3	3	2	3	4	0	2	3	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214505C>A	ENST00000392870.2	+	16	2028	c.1699C>A	c.(1699-1701)Ccc>Acc	p.P567T	GRK5_ENST00000369108.3_Missense_Mutation_p.P462T	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	567					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		CAAGAGTTCGCCCAGCTCCAA	0.567													A	121214505	C	A	121214505	3	1	364	1	0	0	0	0	1	0	0	0	6847	739	26	4	1761	4	GRK5	10	121214505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2273	121214505	14320242	8184	31686											
GRK5	2869	broad.mit.edu	37	chr10	121214568	121214568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagctcgaactccaccGgaagcagctagtttcggctc	9	9	10	13	3	1	0	1	0	0	0	5	2	2	1	2	2	4	5	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121214568G>A	ENST00000392870.2	+	16	2091	c.1762G>A	c.(1762-1764)Gga>Aga	p.G588R	GRK5_ENST00000369108.3_Missense_Mutation_p.G483R	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	588					G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		GAACTCCACCGGAAGCAGCTA	0.547													A	121214568	G	A	121214568	3	1	364	1	0	0	0	0	1	0	0	0	6847	1117	39	1	1824	1	GRK5	10	121214568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63	121214568	14320179	8185	31687											
RGS10	6001	broad.mit.edu	37	chr10	121259697	121259697	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcttcttcctcttcctcGgttcgcttgtgttttaaaaa	8	18	5	10	2	3	0	0	0	3	0	7	0	5	0	2	1	0	3	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121259697G>A	ENST00000392865.1	-	5	494	c.432C>T	c.(430-432)acC>acT	p.T144T	RGS10_ENST00000369103.2_Silent_p.T158T|RGS10_ENST00000469575.1_5'UTR|RGS10_ENST00000369101.3_Silent_p.T150T	NM_002925.3	NP_002916.1	O43665	RGS10_HUMAN	regulator of G-protein signaling 10	150	RGS.				negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			breast(2)|large_intestine(1)|lung(3)	6		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00105)|GBM - Glioblastoma multiforme(135;0.195)		CCTCTTCCTCGGTTCGCTTGT	0.423													A	121259697	G	A	121259697	2	1	364	1	0	0	0	0	0	0	0	1	13382	1103	39	1		1	RGS10	10	121259697	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45129	121259697	14275050	8186	31688											
TIAL1	7073	broad.mit.edu	37	chr10	121337189	121337189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattcctccacagtacacagTacaattttttggacttgact	12	14	5	10	0	0	1	0	1	0	0	2	2	2	2	2	1	2	2	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121337189T>C	ENST00000369092.4	-	9	1555	c.247A>G	c.(247-249)Act>Gct	p.T83A	TIAL1_ENST00000436547.2_Missense_Mutation_p.T206A|TIAL1_ENST00000369093.2_Missense_Mutation_p.T223A			Q01085	TIAR_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein-like 1	206	RRM 1.				apoptosis|defense response|induction of apoptosis|regulation of transcription from RNA polymerase II promoter	lysosome|nucleus|stress granule	nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	13		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.00239)|BRCA - Breast invasive adenocarcinoma(275;0.0932)		CAGTACACAGTACAATTTTTT	0.368													C	121337189	T	C	121337189	3	2	364	1	0	0	0	0	1	0	0	0	15989	1638	57	3	531	3	TIAL1	10	121337189	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77492	121337189	14197558	8187	31689											
INPP5F	22876	broad.mit.edu	37	chr10	121582687	121582687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacattgcgagctgtaatgCgtaatcctgaagaggatgga	13	9	12	7	2	0	2	0	1	0	1	1	5	1	4	1	2	3	3	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121582687C>T	ENST00000361976.2	+	18	2303	c.2137C>T	c.(2137-2139)Cgt>Tgt	p.R713C	INPP5F_ENST00000369080.3_Missense_Mutation_p.R103C|INPP5F_ENST00000490818.1_3'UTR	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	713							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCTGTAATGCGTAATCCTGA	0.408													T	121582687	C	T	121582687	3	4	364	1	0	0	0	0	1	0	0	0	7816	768	27	1	2207	1	INPP5F	10	121582687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	245498	121582687	13952060	8188	31690											
INPP5F	22876	broad.mit.edu	37	chr10	121587087	121587087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttcagagagcagtagcaGcagagcagtctctccctttg	9	10	10	12	0	2	2	1	0	1	2	5	3	4	2	2	0	4	5	2	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:121587087G>A	ENST00000361976.2	+	20	3360	c.3194G>A	c.(3193-3195)aGc>aAc	p.S1065N	INPP5F_ENST00000369080.3_Missense_Mutation_p.S455N	NM_014937.3	NP_055752.1	Q9Y2H2	SAC2_HUMAN	inositol polyphosphate-5-phosphatase F	1065							phosphoric ester hydrolase activity			breast(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(9)|lung(5)|ovary(5)|pancreas(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	42		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00205)|BRCA - Breast invasive adenocarcinoma(275;0.158)		AGCAGTAGCAGCAGAGCAGTC	0.483													A	121587087	G	A	121587087	3	1	364	1	0	0	0	0	1	0	0	0	7816	971	34	2	3272	2	INPP5F	10	121587087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4400	121587087	13947660	8189	31691											
WDR11	55717	broad.mit.edu	37	chr10	122619736	122619736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaaactatggaagaagagCtatgcagataacattctttc	16	10	7	8	0	1	3	0	0	1	3	2	4	1	4	1	1	4	2	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122619736C>A	ENST00000263461.6	+	4	714	c.468C>A	c.(466-468)agC>agA	p.S156R		NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	156						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GGAAGAAGAGCTATGCAGATA	0.413													A	122619736	C	A	122619736	3	1	364	1	0	0	0	0	1	0	0	0	17375	796	28	4	482	4	WDR11	10	122619736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1032649	122619736	12915011	8190	31692											
WDR11	55717	broad.mit.edu	37	chr10	122664854	122664854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcagttgctctgcctgAtagataaggctgcagacgcc	8	10	12	11	2	2	3	1	1	1	2	2	3	2	3	2	1	3	5	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:122664854A>G	ENST00000263461.6	+	26	3463	c.3217A>G	c.(3217-3219)Ata>Gta	p.I1073V	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1073						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						GCTCTGCCTGATAGATAAGGC	0.498													G	122664854	A	G	122664854	3	3	364	1	0	0	0	0	1	0	0	0	17375	333	12	3	3319	3	WDR11	10	122664854	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45118	122664854	12869893	8191	31693											
FGFR2	2263	broad.mit.edu	37	chr10	123310926	123310926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgttggccgcaggcacagCatggagccgcttttccatct	7	10	12	12	2	1	0	0	0	1	0	2	1	2	1	3	3	2	5	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123310926C>T	ENST00000358487.5	-	5	774	c.502G>A	c.(502-504)Gct>Act	p.A168T	FGFR2_ENST00000359354.2_Missense_Mutation_p.A168T|FGFR2_ENST00000356226.4_Missense_Mutation_p.A53T|FGFR2_ENST00000360144.3_Missense_Mutation_p.A79T|FGFR2_ENST00000369060.4_Missense_Mutation_p.A168T|FGFR2_ENST00000346997.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369061.4_Missense_Mutation_p.A168T|FGFR2_ENST00000351936.6_Missense_Mutation_p.A168T|FGFR2_ENST00000457416.2_Missense_Mutation_p.A168T|FGFR2_ENST00000369056.1_Missense_Mutation_p.A168T|FGFR2_ENST00000357555.5_Missense_Mutation_p.A79T|FGFR2_ENST00000369059.1_Missense_Mutation_p.A53T|FGFR2_ENST00000490349.1_5'UTR	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	168	Heparin-binding.|Ig-like C2-type 2.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	GCAGGCACAGCATGGAGCCGC	0.517		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				T	123310926	C	T	123310926	3	4	364	1	0	0	0	0	1	0	0	0	5915	710	25	2	2275	2	FGFR2	10	123310926	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	646072	123310926	12223821	8192	31694											
ATE1	11101	broad.mit.edu	37	chr10	123503324	123503324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgtaaggcatgatggctctCttgtgaaacacctgcaatcg	10	10	10	11	2	1	2	0	2	1	0	3	2	1	2	2	2	2	4	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123503324C>T	ENST00000369043.3	-	12	1514	c.1428G>A	c.(1426-1428)aaG>aaA	p.K476K	ATE1_ENST00000224652.6_Silent_p.K476K|ATE1_ENST00000540606.1_Silent_p.K469K|ATE1_ENST00000535655.1_Silent_p.K177K|ATE1_ENST00000369040.3_Silent_p.K380K|ATE1_ENST00000543447.1_Silent_p.K361K	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	476					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TGATGGCTCTCTTGTGAAACA	0.463													T	123503324	C	T	123503324	2	4	364	1	0	0	0	0	0	0	0	1	1083	912	32	2		2	ATE1	10	123503324	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192398	123503324	12031423	8193	31695											
ATE1	11101	broad.mit.edu	37	chr10	123596249	123596249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaccttatatttcatcttgGgacatgaatgaatgtagaaa	14	15	7	5	0	2	3	1	2	1	1	2	4	2	4	1	1	1	1	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123596249G>T	ENST00000369043.3	-	10	1327	c.1241C>A	c.(1240-1242)cCc>cAc	p.P414H	ATE1_ENST00000224652.6_Missense_Mutation_p.P414H|ATE1_ENST00000540606.1_Missense_Mutation_p.P407H|ATE1_ENST00000535655.1_Missense_Mutation_p.P115H|ATE1_ENST00000369040.3_Missense_Mutation_p.P318H|ATE1_ENST00000543447.1_Missense_Mutation_p.P299H	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	414					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				TTTCATCTTGGGACATGAATG	0.308													T	123596249	G	T	123596249	3	4	364	1	0	0	0	0	1	0	0	0	1083	1232	43	4	327	4	ATE1	10	123596249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92925	123596249	11938498	8194	31696											
ATE1	11101	broad.mit.edu	37	chr10	123658440	123658440	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaggactggctgaaagaCgacttgaactctgggtcctc	12	8	12	9	1	1	3	0	2	1	1	3	6	2	4	1	3	1	1	1	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658440C>T	ENST00000369043.3	-	7	944	c.858G>A	c.(856-858)tcG>tcA	p.S286S	ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Silent_p.S279S|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Silent_p.S190S|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000481784.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	286					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GGCTGAAAGACGACTTGAACT	0.433													T	123658440	C	T	123658440	2	4	364	1	0	0	0	0	0	0	0	1	1083	523	19	1		1	ATE1	10	123658440	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62191	123658440	11876307	8195	31697											
ATE1	11101	broad.mit.edu	37	chr10	123658451	123658451	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaagacgacttgaactCtgggtcctcaaaggagacag	13	7	12	9	1	2	4	1	2	1	2	3	6	3	4	1	2	1	1	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123658451C>A	ENST00000369043.3	-	7	933	c.847G>T	c.(847-849)Gag>Tag	p.E283*	ATE1_ENST00000224652.6_Intron|ATE1_ENST00000540606.1_Nonsense_Mutation_p.E276*|ATE1_ENST00000535655.1_Intron|ATE1_ENST00000369040.3_Nonsense_Mutation_p.E187*|ATE1_ENST00000543447.1_Intron|ATE1_ENST00000481784.1_Intron	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	283					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				GACTTGAACTCTGGGTCCTCA	0.438													A	123658451	C	A	123658451	4	1	364	1	0	0	0	0	0	1	0	0	1083	922	32	4	733	4	ATE1	10	123658451	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	123658451	11876296	8196	31698											
TACC2	10579	broad.mit.edu	37	chr10	123781513	123781513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatgggcaatgagaacaGcacctcggacaaccaggtgg	14	4	12	11	1	0	1	0	1	0	1	1	3	0	2	2	4	4	2	2	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123781513G>T	ENST00000369005.1	+	2	357	c.17G>T	c.(16-18)aGc>aTc	p.S6I	TACC2_ENST00000453444.2_Missense_Mutation_p.S6I|TACC2_ENST00000513429.1_Missense_Mutation_p.S6I|TACC2_ENST00000358010.1_Missense_Mutation_p.S6I|TACC2_ENST00000515603.1_Missense_Mutation_p.S6I|TACC2_ENST00000334433.3_Missense_Mutation_p.S6I|TACC2_ENST00000515273.1_Missense_Mutation_p.S6I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	6						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AATGAGAACAGCACCTCGGAC	0.483													T	123781513	G	T	123781513	3	4	364	1	0	0	0	0	1	0	0	0	15599	971	34	4	19	4	TACC2	10	123781513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123062	123781513	11753234	8197	31699											
TACC2	10579	broad.mit.edu	37	chr10	123843937	123843937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacccagaaaggggggtgCtgggcacacggacgggcccc	8	2	17	14	2	0	1	0	0	0	1	0	2	0	2	4	6	1	2	4	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123843937C>A	ENST00000369005.1	+	4	2262	c.1922C>A	c.(1921-1923)gCt>gAt	p.A641D	TACC2_ENST00000453444.2_Missense_Mutation_p.A641D|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.A641D|TACC2_ENST00000334433.3_Missense_Mutation_p.A641D|TACC2_ENST00000515273.1_Missense_Mutation_p.A641D	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	641						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AAGGGGGGTGCTGGGCACACG	0.607													A	123843937	C	A	123843937	3	1	364	1	0	0	0	0	1	0	0	0	15599	797	28	4	1932	4	TACC2	10	123843937	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62424	123843937	11690810	8198	31700											
TACC2	10579	broad.mit.edu	37	chr10	123846233	123846233	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccctcactggcttcccAgacttcagggagcacatcgc	8	7	9	17	1	2	1	2	0	0	1	4	2	3	2	3	2	1	2	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846233A>C	ENST00000369005.1	+	4	4558	c.4218A>C	c.(4216-4218)ccA>ccC	p.P1406P	TACC2_ENST00000453444.2_Silent_p.P1406P|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.P1406P|TACC2_ENST00000334433.3_Silent_p.P1406P|TACC2_ENST00000515273.1_Silent_p.P1406P	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1406						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CTGGCTTCCCAGACTTCAGGG	0.597													C	123846233	A	C	123846233	2	2	364	1	0	0	0	0	0	0	0	1	15599	175	7	5		5	TACC2	10	123846233	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2296	123846233	11688514	8199	31701											
TACC2	10579	broad.mit.edu	37	chr10	123846534	123846534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcagggctgacctgggagCggaacttgccaggtgccggt	7	6	17	11	2	0	1	0	1	0	0	0	3	0	3	3	5	5	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846534C>T	ENST00000369005.1	+	4	4859	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	TACC2_ENST00000453444.2_Missense_Mutation_p.R1507W|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Missense_Mutation_p.R1507W|TACC2_ENST00000334433.3_Missense_Mutation_p.R1507W|TACC2_ENST00000515273.1_Missense_Mutation_p.R1507W	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1507						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GACCTGGGAGCGGAACTTGCC	0.622													T	123846534	C	T	123846534	3	4	364	1	0	0	0	0	1	0	0	0	15599	759	27	1	4529	1	TACC2	10	123846534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	301	123846534	11688213	8200	31702											
TACC2	10579	broad.mit.edu	37	chr10	123846833	123846833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaggaaacatctgcctgCgacagtccacatggagaaga	14	5	10	12	1	1	2	0	0	1	2	2	5	2	3	3	2	3	0	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123846833C>T	ENST00000369005.1	+	4	5158	c.4818C>T	c.(4816-4818)tgC>tgT	p.C1606C	TACC2_ENST00000453444.2_Silent_p.C1606C|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000515603.1_Silent_p.C1606C|TACC2_ENST00000334433.3_Silent_p.C1606C|TACC2_ENST00000515273.1_Silent_p.C1606C	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1606						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CATCTGCCTGCGACAGTCCAC	0.592													T	123846833	C	T	123846833	2	4	364	1	0	0	0	0	0	0	0	1	15599	776	27	1		1	TACC2	10	123846833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299	123846833	11687914	8201	31703											
TACC2	10579	broad.mit.edu	37	chr10	123970727	123970727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagccaaagggctctccGtaaggctggagtttgactat	9	10	11	11	1	1	1	0	1	1	0	3	2	2	2	3	3	1	4	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:123970727G>A	ENST00000369005.1	+	9	7127	c.6787G>A	c.(6787-6789)Gta>Ata	p.V2263I	TACC2_ENST00000453444.2_Missense_Mutation_p.V2267I|TACC2_ENST00000369000.1_5'UTR|TACC2_ENST00000513429.1_Missense_Mutation_p.V409I|TACC2_ENST00000260733.3_Missense_Mutation_p.V341I|TACC2_ENST00000360561.3_Missense_Mutation_p.V341I|TACC2_ENST00000358010.1_Missense_Mutation_p.V409I|TACC2_ENST00000515603.1_Missense_Mutation_p.V2218I|TACC2_ENST00000368999.1_Missense_Mutation_p.V341I|TACC2_ENST00000369004.3_Missense_Mutation_p.V341I|TACC2_ENST00000369001.1_5'UTR|TACC2_ENST00000334433.3_Missense_Mutation_p.V2263I|TACC2_ENST00000515273.1_Missense_Mutation_p.V2267I	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2263						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				AGGGCTCTCCGTAAGGCTGGA	0.567													A	123970727	G	A	123970727	3	1	364	1	0	0	0	0	1	0	0	0	15599	1145	40	1	6889	1	TACC2	10	123970727	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123894	123970727	11564020	8202	31704											
BTBD16	118663	broad.mit.edu	37	chr10	124090749	124090749	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagtcatggctcgaccaGgttacagtcaaccattacca	12	8	8	13	1	2	1	2	0	0	1	3	2	2	1	4	2	3	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124090749G>T	ENST00000368994.2	+	12	1316	c.1065G>T	c.(1063-1065)caG>caT	p.Q355H	BTBD16_ENST00000260723.4_Missense_Mutation_p.Q354H			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	354										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				GGCTCGACCAGGTTACAGTCA	0.463													T	124090749	G	T	124090749	3	4	364	1	0	0	0	0	1	0	0	0	1550	991	35	4	1104	4	BTBD16	10	124090749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120022	124090749	11443998	8203	31705											
BTBD16	118663	broad.mit.edu	37	chr10	124092006	124092006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaacacccaggctgtgaGatttgggctgctctttaacc	8	13	9	11	0	2	1	0	1	2	1	2	2	2	1	2	2	3	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124092006G>T	ENST00000368994.2	+	13	1396	c.1145G>T	c.(1144-1146)aGa>aTa	p.R382I	BTBD16_ENST00000260723.4_Missense_Mutation_p.R381I|BTBD16_ENST00000495370.2_3'UTR			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	381										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				CAGGCTGTGAGATTTGGGCTG	0.517													T	124092006	G	T	124092006	3	4	364	1	0	0	0	0	1	0	0	0	1550	942	33	4	1188	4	BTBD16	10	124092006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1257	124092006	11442741	8204	31706											
PLEKHA1	59338	broad.mit.edu	37	chr10	124189225	124189225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacattccacagcctctcGcagcaactctttggtctcaa	9	11	5	16	1	4	0	2	0	3	0	7	0	5	0	2	1	3	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124189225G>A	ENST00000368988.1	+	13	1150	c.1027G>A	c.(1027-1029)Gca>Aca	p.A343T	PLEKHA1_ENST00000538022.1_3'UTR|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.A343T|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R329H|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R329H			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	0					B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ACAGCCTCTCGCAGCAACTCT	0.537													A	124189225	G	A	124189225	3	1	364	1	0	0	0	0	1	0	0	0	12132	1087	38	1	1028	1	PLEKHA1	10	124189225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97219	124189225	11345522	8205	31707											
DMBT1	1755	broad.mit.edu	37	chr10	124336138	124336138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattgccctggatgatgtGcgctgctcaggacacgaatc	8	9	11	13	2	1	1	1	1	0	0	2	4	1	3	2	2	3	2	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124336138G>A	ENST00000368909.3	+	7	613	c.507G>A	c.(505-507)gtG>gtA	p.V169V	DMBT1_ENST00000368955.3_Silent_p.V169V|DMBT1_ENST00000330163.4_Silent_p.V169V|DMBT1_ENST00000344338.3_Silent_p.V169V|DMBT1_ENST00000368956.2_Silent_p.V169V|DMBT1_ENST00000359586.6_Silent_p.V169V|DMBT1_ENST00000338354.3_Silent_p.V169V	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	169	SRCR 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATGATGTGCGCTGCTCAG	0.587													A	124336138	G	A	124336138	2	1	364	1	0	0	0	0	0	0	0	1	4616	1306	46	2		2	DMBT1	10	124336138	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146913	124336138	11198609	8206	31708											
DMBT1	1755	broad.mit.edu	37	chr10	124337336	124337336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcacagctgcccagcCtcagtcaacactcaggccag	9	9	7	16	0	4	0	4	0	1	0	5	0	4	0	3	1	4	1	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124337336C>A	ENST00000368909.3	+	8	723	c.617C>A	c.(616-618)cCt>cAt	p.P206H	DMBT1_ENST00000368955.3_Missense_Mutation_p.P206H|DMBT1_ENST00000330163.4_Missense_Mutation_p.P206H|DMBT1_ENST00000344338.3_Missense_Mutation_p.P206H|DMBT1_ENST00000368956.2_Missense_Mutation_p.P206H|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.P206H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	206					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GCTGCCCAGCCTCAGTCAACA	0.512													A	124337336	C	A	124337336	3	1	364	1	0	0	0	0	1	0	0	0	4616	681	24	4	647	4	DMBT1	10	124337336	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1198	124337336	11197411	8207	31709											
C10orf120	399814	broad.mit.edu	37	chr10	124457660	124457660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttttgccattggacccagGcccaccccagacagaaatga	11	9	8	13	0	0	3	0	1	0	2	0	4	0	4	5	2	1	0	5	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124457660G>A	ENST00000329446.4	-	3	628	c.597C>T	c.(595-597)ggC>ggT	p.G199G		NM_001010912.1	NP_001010912.1	Q5SQS8	CJ120_HUMAN	chromosome 10 open reading frame 120	199										endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|skin(2)|stomach(1)|urinary_tract(1)	21		all_neural(114;0.169)|Glioma(114;0.222)				TTGGACCCAGGCCCACCCCAG	0.483													A	124457660	G	A	124457660	2	1	364	1	0	0	0	0	0	0	0	1	1601	1190	42	2		2	C10orf120	10	124457660	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120324	124457660	11077087	8208	31710											
FAM24B	196792	broad.mit.edu	37	chr10	124608857	124608857	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgcagggcaggacaaGactccgtggcaatggttttg	10	8	14	9	1	0	1	0	0	0	1	1	2	1	2	1	4	2	5	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124608857G>T	ENST00000368898.3	-	4	481	c.191C>A	c.(190-192)tCt>tAt	p.S64Y	FAM24B_ENST00000462859.1_5'UTR|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.S64Y	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	64						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		GGCAGGACAAGACTCCGTGGC	0.512													T	124608857	G	T	124608857	3	4	364	1	0	0	0	0	1	0	0	0	5596	942	33	4	97	4	FAM24B	10	124608857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151197	124608857	10925890	8209	31711											
FAM24B	196792	broad.mit.edu	37	chr10	124609946	124609946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttgtgactcactttagcGcgttgtgtattttgaagtaa	10	16	9	6	2	1	2	1	2	0	0	1	2	1	2	0	0	2	3	0	0	5	8	rs139313059		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124609946G>A	ENST00000368898.3	-	3	376	c.86C>T	c.(85-87)gCg>gTg	p.A29V	FAM24B_ENST00000462859.1_Intron|CUZD1_ENST00000368904.1_5'UTR|CUZD1_ENST00000545804.1_Intron|FAM24B_ENST00000368896.1_Missense_Mutation_p.A29V	NM_152644.2	NP_689857.2	Q8N5W8	FA24B_HUMAN	family with sequence similarity 24, member B	29						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.136)|COAD - Colon adenocarcinoma(40;0.141)		TCACTTTAGCGCGTTGTGTAT	0.473													A	124609946	G	A	124609946	3	1	364	1	0	0	0	0	1	0	0	0	5596	1087	38	1	206	1	FAM24B	10	124609946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1089	124609946	10924801	8210	31712											
C10orf88	80007	broad.mit.edu	37	chr10	124697271	124697271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgttttcctgacactcGgtcttatttcccacatggag	7	15	9	10	1	1	2	0	2	1	0	4	3	3	3	2	2	0	1	2	2	1	4	rs145403983	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124697271G>A	ENST00000481909.1	-	5	1277	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	C10orf88_ENST00000368891.5_5'UTR	NM_024942.3	NP_079218.2	Q9H8K7	CJ088_HUMAN	chromosome 10 open reading frame 88	351										breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)	18		all_neural(114;0.0765)|Lung NSC(174;0.163)|all_lung(145;0.205)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0735)		CCTGACACTCGGTCTTATTTC	0.393													A	124697271	G	A	124697271	2	1	364	1	0	0	0	0	0	0	0	1	1633	1103	39	1		1	C10orf88	10	124697271	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87325	124697271	10837476	8211	31713											
IKZF5	64376	broad.mit.edu	37	chr10	124755566	124755566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctttgctggcatagttgCagtaccgacacttaagcttc	8	14	8	11	1	0	0	0	0	0	0	2	1	1	0	2	1	4	6	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124755566C>T	ENST00000368886.5	-	4	580	c.260G>A	c.(259-261)tGc>tAc	p.C87Y	PSTK_ENST00000497219.1_Intron	NM_001271840.1	NP_001258769.1	Q9H5V7	IKZF5_HUMAN	IKAROS family zinc finger 5 (Pegasus)	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|lung(3)|prostate(1)	6		all_neural(114;0.169)|Colorectal(57;0.178)|Glioma(114;0.222)		Colorectal(40;0.0701)|COAD - Colon adenocarcinoma(40;0.0754)		GGCATAGTTGCAGTACCGACA	0.453													T	124755566	C	T	124755566	3	4	364	1	0	0	0	0	1	0	0	0	7676	710	25	2	1007	2	IKZF5	10	124755566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58295	124755566	10779181	8212	31714											
HMX2	3167	broad.mit.edu	37	chr10	124909419	124909419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttggttccagaaccgccGcaacaagtggaagcggcagc	11	5	13	12	3	0	1	0	0	0	1	1	3	1	2	3	3	4	3	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124909419G>A	ENST00000339992.3	+	2	859	c.602G>A	c.(601-603)cGc>cAc	p.R201H		NM_005519.1	NP_005510.1	A2RU54	HMX2_HUMAN	H6 family homeobox 2	201					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|lung(4)|prostate(1)	7		all_neural(114;0.169)|Colorectal(57;0.207)|Glioma(114;0.222)		Colorectal(40;0.123)|COAD - Colon adenocarcinoma(40;0.141)		CAGAACCGCCGCAACAAGTGG	0.652													A	124909419	G	A	124909419	3	1	364	1	0	0	0	0	1	0	0	0	7302	1087	38	1	608	1	HMX2	10	124909419	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	153853	124909419	10625328	8213	31715											
BUB3	9184	broad.mit.edu	37	chr10	124921758	124921758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctcttggcagggttatGtattaagctctattgaaggc	8	16	10	7	0	3	1	0	1	3	0	4	1	3	1	0	3	1	4	0	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124921758G>A	ENST00000368865.4	+	6	792	c.583G>A	c.(583-585)Gta>Ata	p.V195I	BUB3_ENST00000368858.5_Missense_Mutation_p.V195I|BUB3_ENST00000538238.1_Missense_Mutation_p.V115I|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	195					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				GCAGGGTTATGTATTAAGCTC	0.413													A	124921758	G	A	124921758	3	1	364	1	0	0	0	0	1	0	0	0	1582	1377	48	2	601	2	BUB3	10	124921758	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12339	124921758	10612989	8214	31716											
BUB3	9184	broad.mit.edu	37	chr10	124922226	124922226	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgcatcacttgccttcAgtaatgatgggactacgctt	9	12	9	11	2	2	1	2	1	0	0	3	2	2	2	1	1	2	4	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:124922226A>G	ENST00000368865.4	+	7	1062	c.853A>G	c.(853-855)Agt>Ggt	p.S285G	BUB3_ENST00000368858.5_Missense_Mutation_p.S285G|BUB3_ENST00000538238.1_Missense_Mutation_p.S205G|BUB3_ENST00000481952.1_3'UTR|BUB3_ENST00000368859.2_Intron	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	285					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				ACTTGCCTTCAGTAATGATGG	0.433													G	124922226	A	G	124922226	3	3	364	1	0	0	0	0	1	0	0	0	1582	188	7	3	875	3	BUB3	10	124922226	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	468	124922226	10612521	8215	31717											
CPXM2	119587	broad.mit.edu	37	chr10	125521526	125521526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccagccagcggaacaCgtggtcgtcgggggtggggg	6	5	21	9	4	0	0	0	0	0	0	2	1	0	1	2	7	3	1	2	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125521526C>T	ENST00000241305.3	-	11	1793	c.1639G>A	c.(1639-1641)Gtg>Atg	p.V547M	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	547					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CAGCGGAACACGTGGTCGTCG	0.677													T	125521526	C	T	125521526	3	4	364	1	0	0	0	0	1	0	0	0	3869	536	19	1	647	1	CPXM2	10	125521526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	599300	125521526	10013221	8216	31718											
CPXM2	119587	broad.mit.edu	37	chr10	125528127	125528127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccaggtggacgatgcgcGcattccgggccaagtactcc	8	6	12	15	4	0	0	0	0	0	0	2	2	2	1	5	3	2	2	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:125528127G>A	ENST00000241305.3	-	9	1368	c.1214C>T	c.(1213-1215)gCg>gTg	p.A405V	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	405					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		GACGATGCGCGCATTCCGGGC	0.647													A	125528127	G	A	125528127	3	1	364	1	0	0	0	0	1	0	0	0	3869	1087	38	1	1080	1	CPXM2	10	125528127	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6601	125528127	10006620	8217	31719											
OAT	4942	broad.mit.edu	37	chr10	126094005	126094005	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgctagtgaaatacCtccagtgcgggcagatcatt	11	11	10	9	1	1	3	1	2	0	1	2	3	2	3	2	1	3	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126094005C>A	ENST00000368845.5	-	5	740	c.648G>T	c.(646-648)gaG>gaT	p.E216D	OAT_ENST00000539214.1_Splice_Site_p.E78D|OAT_ENST00000467675.1_5'UTR	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	216					cellular amino acid biosynthetic process|visual perception	mitochondrial matrix	ornithine-oxo-acid transaminase activity|protein binding|pyridoxal phosphate binding			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)|Pyridoxal Phosphate(DB00114)	AGTGAAATACCTCCAGTGCGG	0.393													A	126094005	C	A	126094005	5	1	364	1	0	0	0	0	0	0	1	0	10879	695	24	4	695	4	OAT	10	126094005	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	565878	126094005	9440742	8218	31720											
FAM53B	9679	broad.mit.edu	37	chr10	126311927	126311927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctctcctgccacaatcctCgtccagggcgcagctgtctg	5	9	10	17	3	2	0	0	0	2	0	6	0	4	0	4	1	2	3	4	1	1	0	rs140442850	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126311927C>T	ENST00000337318.3	-	5	1364	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	FAM53B_ENST00000392754.3_Missense_Mutation_p.E385K|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	385										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		CCACAATCCTCGTCCAGGGCG	0.682													T	126311927	C	T	126311927	3	4	364	1	0	0	0	0	1	0	0	0	5631	893	31	1	119	1	FAM53B	10	126311927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217922	126311927	9222820	8219	31721											
FAM53B	9679	broad.mit.edu	37	chr10	126312126	126312126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctggggaccgcagtcCtctgtccctgcgctcaggca	4	8	14	15	2	3	0	1	0	2	0	5	1	5	1	3	4	1	4	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126312126C>A	ENST00000337318.3	-	5	1165	c.954G>T	c.(952-954)gaG>gaT	p.E318D	FAM53B_ENST00000392754.3_Missense_Mutation_p.E318D|RP11-12J10.3_ENST00000494792.1_Intron	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	318										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		GACCGCAGTCCTCTGTCCCTG	0.682													A	126312126	C	A	126312126	3	1	364	1	0	0	0	0	1	0	0	0	5631	680	24	4	318	4	FAM53B	10	126312126	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199	126312126	9222621	8220	31722											
FAM53B	9679	broad.mit.edu	37	chr10	126370557	126370557	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagggtgaggagagcacGttggcccgggaagggaggct	8	5	20	8	3	0	2	0	1	0	1	1	5	0	4	1	6	1	4	1	6	1	1	rs139649397		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126370557G>A	ENST00000337318.3	-	4	736	c.525C>T	c.(523-525)aaC>aaT	p.N175N	FAM53B_ENST00000392754.3_Silent_p.N175N|RP11-12J10.3_ENST00000494792.1_3'UTR|FAM53B_ENST00000280780.6_Silent_p.N175N	NM_014661.3	NP_055476.3	Q14153	FA53B_HUMAN	family with sequence similarity 53, member B	175										cervix(1)|lung(5)|ovary(2)|pancreas(1)	9		all_lung(145;0.0191)|Lung NSC(174;0.0301)|Colorectal(57;0.106)|all_neural(114;0.117)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.15)		AGGAGAGCACGTTGGCCCGGG	0.647													A	126370557	G	A	126370557	2	1	364	1	0	0	0	0	0	0	0	1	5631	1136	40	1		1	FAM53B	10	126370557	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58431	126370557	9164190	8221	31723											
FAM175B	23172	broad.mit.edu	37	chr10	126518046	126518046	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacttcaggagaaagttcaGgtaactgatttatttattag	13	14	9	5	0	2	2	2	1	0	1	2	3	2	2	0	2	1	3	0	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126518046G>T	ENST00000298492.5	+	7	708	c.663G>T	c.(661-663)caG>caT	p.Q221H		NM_032182.3	NP_115558.3	Q15018	F175B_HUMAN	family with sequence similarity 175, member B	221						BRISC complex	polyubiquitin binding			NS(1)	1						AGAAAGTTCAGGTAACTGATT	0.328													T	126518046	G	T	126518046	5	4	364	1	0	0	0	0	0	0	1	0	5543	1014	35	4	689	4	FAM175B	10	126518046	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147489	126518046	9016701	8222	31724											
ZRANB1	54764	broad.mit.edu	37	chr10	126631286	126631286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agactctagtgcaagaccaaGggtgaaatcttcgtatagca	14	9	10	8	1	2	3	0	1	2	2	3	3	2	3	1	1	2	3	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126631286G>T	ENST00000359653.4	+	1	595	c.224G>T	c.(223-225)aGg>aTg	p.R75M	RP11-298J20.4_ENST00000508096.1_RNA	NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	75					positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		GCAAGACCAAGGGTGAAATCT	0.428													T	126631286	G	T	126631286	3	4	364	1	0	0	0	0	1	0	0	0	18321	1000	35	4	226	4	ZRANB1	10	126631286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113240	126631286	8903461	8223	31725											
ZRANB1	54764	broad.mit.edu	37	chr10	126662837	126662837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacgtttggacagtcgactgTatgcactttggaaccggact	9	11	11	10	3	0	0	0	0	0	0	1	4	0	3	1	3	2	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:126662837T>C	ENST00000359653.4	+	5	1668	c.1297T>C	c.(1297-1299)Tat>Cat	p.Y433H		NM_017580.2	NP_060050.2	Q9UGI0	ZRAN1_HUMAN	zinc finger, RAN-binding domain containing 1	433	OTU.|TRAF-binding.				positive regulation of Wnt receptor signaling pathway|protein K63-linked deubiquitination|Wnt receptor signaling pathway	aggresome|centrosome|intermediate filament cytoskeleton|nucleolus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	23		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.172)		Colorectal(40;0.113)|COAD - Colon adenocarcinoma(40;0.119)		CAGTCGACTGTATGCACTTTG	0.438													C	126662837	T	C	126662837	3	2	364	1	0	0	0	0	1	0	0	0	18321	1638	57	3	1315	3	ZRANB1	10	126662837	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31551	126662837	8871910	8224	31726											
UROS	7390	broad.mit.edu	37	chr10	127477544	127477544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccctgggcggccagcgCgcgagccgtagtggggccga	6	3	19	13	6	0	0	0	0	0	0	0	2	0	0	4	5	2	1	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127477544C>T	ENST00000368797.4	-	10	915	c.691G>A	c.(691-693)Gcg>Acg	p.A231T	UROS_ENST00000368786.1_Missense_Mutation_p.A231T	NM_000375.2	NP_000366.1	P10746	HEM4_HUMAN	uroporphyrinogen III synthase	231					heme biosynthetic process|uroporphyrinogen III biosynthetic process	cytosol|mitochondrion	uroporphyrinogen-III synthase activity			endometrium(2)|large_intestine(2)|lung(2)|skin(1)	7		all_lung(145;0.00756)|Lung NSC(174;0.0116)|Colorectal(57;0.0855)|all_neural(114;0.0937)|Breast(234;0.203)				GCGGCCAGCGCGCGAGCCGTA	0.637													T	127477544	C	T	127477544	3	4	364	1	0	0	0	0	1	0	0	0	17132	768	27	1	110	1	UROS	10	127477544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	814707	127477544	8057203	8225	31727											
DHX32	55760	broad.mit.edu	37	chr10	127548312	127548312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagggtgtttatttttcaCttctatgacaggcacgtttc	8	16	8	9	1	2	1	1	1	1	0	3	1	2	1	0	2	0	3	0	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127548312C>A	ENST00000284690.3	-	3	1199	c.709G>T	c.(709-711)Gtg>Ttg	p.V237L	DHX32_ENST00000284688.6_Missense_Mutation_p.V237L	NM_018180.2	NP_060650.2	Q7L7V1	DHX32_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 32	237	Helicase ATP-binding.					mitochondrion|nucleus	ATP binding|helicase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|stomach(1)	29		all_lung(145;0.00751)|Lung NSC(174;0.0115)|Colorectal(57;0.0846)|all_neural(114;0.0936)				TTATTTTTCACTTCTATGACA	0.398													A	127548312	C	A	127548312	3	1	364	1	0	0	0	0	1	0	0	0	4544	565	20	4	1558	4	DHX32	10	127548312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70768	127548312	7986435	8226	31728											
ADAM12	8038	broad.mit.edu	37	chr10	127797171	127797171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacttaccttgtcaacGtgattagcaatctctattaa	15	13	5	8	1	2	2	1	1	1	1	3	2	2	2	1	0	4	1	1	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:127797171G>A	ENST00000368679.4	-	8	1050	c.741C>T	c.(739-741)caC>caT	p.H247H	ADAM12_ENST00000368676.4_Silent_p.H247H	NM_003474.4	NP_003465.3	O43184	ADA12_HUMAN	ADAM metallopeptidase domain 12	247	Peptidase M12B.				cell adhesion|epidermal growth factor receptor signaling pathway|myoblast fusion|proteolysis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|protein binding|SH3 domain binding|zinc ion binding			biliary_tract(1)|breast(7)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69		all_epithelial(44;7.06e-05)|all_lung(145;0.00563)|Lung NSC(174;0.00834)|Colorectal(57;0.102)|all_neural(114;0.107)|Breast(234;0.22)		COAD - Colon adenocarcinoma(40;0.141)|Colorectal(40;0.216)		CCTTGTCAACGTGATTAGCAA	0.363													A	127797171	G	A	127797171	2	1	364	1	0	0	0	0	0	0	0	1	236	1136	40	1		1	ADAM12	10	127797171	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248859	127797171	7737576	8227	31729											
C10orf90	118611	broad.mit.edu	37	chr10	128118356	128118356	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatacaataaccaagtacCtcttagatcgcatatgcatc	15	10	4	12	1	1	1	0	0	1	1	3	1	1	1	3	0	4	3	3	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128118356C>A	ENST00000284694.7	-	7	2081	c.1961G>T	c.(1960-1962)aGa>aTa	p.R654I	C10orf90_ENST00000544758.1_Splice_Site_p.R751I|C10orf90_ENST00000480379.1_Splice_Site_p.R58I|C10orf90_ENST00000454341.1_Splice_Site_p.R557I|C10orf90_ENST00000356858.3_Splice_Site_p.R607I	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90	654				R -> G (in Ref. 3; BAB71512).						NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		AACCAAGTACCTCTTAGATCG	0.448													A	128118356	C	A	128118356	5	1	364	1	0	0	0	0	0	0	1	0	1634	695	24	4	150	4	C10orf90	10	128118356	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	321185	128118356	7416391	8228	31730											
C10orf90	118611	broad.mit.edu	37	chr10	128147787	128147787	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacgaacttccagtgcttcCtatgcaaagcaaagaaaata	16	10	6	9	1	0	1	0	0	0	1	2	2	2	1	2	0	5	3	2	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128147787C>T	ENST00000284694.7	-	6	1840		c.e6-1		C10orf90_ENST00000544758.1_Splice_Site|C10orf90_ENST00000480379.1_Splice_Site|C10orf90_ENST00000454341.1_Splice_Site|C10orf90_ENST00000356858.3_Splice_Site	NM_001004298.2	NP_001004298.2	Q96M02	CJ090_HUMAN	chromosome 10 open reading frame 90											NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(19)|liver(1)|lung(29)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	65		all_epithelial(44;4.51e-05)|all_lung(145;0.0068)|Lung NSC(174;0.0105)|Colorectal(57;0.0848)|all_neural(114;0.0936)|Breast(234;0.203)		COAD - Colon adenocarcinoma(40;0.0442)|Colorectal(40;0.0479)		CCAGTGCTTCCTATGCAAAGC	0.483													T	128147787	C	T	128147787	5	4	364	1	0	0	0	0	0	0	1	0	1634	695	24	2	396	2	C10orf90	10	128147787	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29431	128147787	7386960	8229	31731											
DOCK1	1793	broad.mit.edu	37	chr10	128850978	128850978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgaagaactacgtggaCggtgctgagaagccgggagt	10	8	17	6	3	0	3	0	2	0	2	0	6	0	5	1	3	4	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:128850978C>T	ENST00000280333.6	+	22	2281	c.2172C>T	c.(2170-2172)gaC>gaT	p.D724D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	724					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		ACTACGTGGACGGTGCTGAGA	0.433													T	128850978	C	T	128850978	2	4	364	1	0	0	0	0	0	0	0	1	4723	535	19	1		1	DOCK1	10	128850978	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	703191	128850978	6683769	8230	31732											
DOCK1	1793	broad.mit.edu	37	chr10	129245737	129245737	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcaaaggcagcgtggcagaTtacgggaatttgatggaaaa	14	8	13	6	2	1	2	1	1	0	1	1	4	1	4	0	4	2	2	0	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129245737T>C	ENST00000280333.6	+	51	5539	c.5430T>C	c.(5428-5430)gaT>gaC	p.D1810D		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	1810	Interaction with NCK2 second and third SH3 domain (minor).				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GCGTGGCAGATTACGGGAATT	0.582													C	129245737	T	C	129245737	2	2	364	1	0	0	0	0	0	0	0	1	4723	1490	52	3		3	DOCK1	10	129245737	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	394759	129245737	6289010	8231	31733											
PTPRE	5791	broad.mit.edu	37	chr10	129877895	129877895	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgagtaaaagccgagggacTtttagatgtatttcaagctg	12	11	12	6	2	1	1	1	0	0	1	1	4	1	2	1	1	2	3	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129877895T>C	ENST00000254667.3	+	20	2243	c.1964T>C	c.(1963-1965)cTt>cCt	p.L655P	PTPRE_ENST00000419012.2_Missense_Mutation_p.L655P|PTPRE_ENST00000306042.5_Missense_Mutation_p.L597P	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	655	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				GCCGAGGGACTTTTAGATGTA	0.458													C	129877895	T	C	129877895	3	2	364	1	0	0	0	0	1	0	0	0	12888	1609	56	3	2073	3	PTPRE	10	129877895	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	632158	129877895	5656852	8232	31734											
MKI67	4288	broad.mit.edu	37	chr10	129900968	129900968	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaacttctcttcatgatgaCcacgggttcggatgatttgc	9	13	9	10	2	2	3	1	3	1	0	4	4	2	4	1	2	2	1	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129900968C>A	ENST00000368654.3	-	13	9511	c.9136G>T	c.(9136-9138)Gtc>Ttc	p.V3046F	MKI67_ENST00000368653.3_Missense_Mutation_p.V2686F	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	3046					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCATGATGACCACGGGTTCG	0.502													A	129900968	C	A	129900968	3	1	364	1	0	0	0	0	1	0	0	0	9673	507	18	4	646	4	MKI67	10	129900968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23073	129900968	5633779	8233	31735											
MKI67	4288	broad.mit.edu	37	chr10	129901141	129901141	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtgggggcagggaagtgTtgcttttgctttgtgatttt	5	16	16	4	0	0	1	0	1	0	0	0	2	0	2	0	3	2	5	0	3	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901141T>C	ENST00000368654.3	-	13	9338	c.8963A>G	c.(8962-8964)aAc>aGc	p.N2988S	MKI67_ENST00000368653.3_Missense_Mutation_p.N2628S	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2988					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CAGGGAAGTGTTGCTTTTGCT	0.532													C	129901141	T	C	129901141	3	2	364	1	0	0	0	0	1	0	0	0	9673	1725	60	3	819	3	MKI67	10	129901141	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	173	129901141	5633606	8234	31736											
MKI67	4288	broad.mit.edu	37	chr10	129901433	129901433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttctgcgtccagcttccGctttgcaggttgcttaaatg	6	15	9	11	2	2	0	0	0	2	0	4	0	4	0	2	1	4	5	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129901433G>A	ENST00000368654.3	-	13	9046	c.8671C>T	c.(8671-8673)Cgg>Tgg	p.R2891W	MKI67_ENST00000368653.3_Missense_Mutation_p.R2531W	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2891	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCCAGCTTCCGCTTTGCAGGT	0.547													A	129901433	G	A	129901433	3	1	364	1	0	0	0	0	1	0	0	0	9673	1086	38	1	1111	1	MKI67	10	129901433	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	292	129901433	5633314	8235	31737											
MKI67	4288	broad.mit.edu	37	chr10	129903287	129903287	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtctttctcatcacctcCtgctggtttgggtgtgtcca	4	16	9	12	0	3	0	2	0	2	0	6	0	5	0	3	2	1	2	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129903287C>A	ENST00000368654.3	-	13	7192	c.6817G>T	c.(6817-6819)Gga>Tga	p.G2273*	MKI67_ENST00000368653.3_Nonsense_Mutation_p.G1913*	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2273	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TCATCACCTCCTGCTGGTTTG	0.473													A	129903287	C	A	129903287	4	1	364	1	0	0	0	0	0	1	0	0	9673	690	24	4	2965	4	MKI67	10	129903287	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1854	129903287	5631460	8236	31738											
MKI67	4288	broad.mit.edu	37	chr10	129904331	129904331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaggtccagtttctccaCtggagtccccacaaatgtgt	9	11	9	12	0	1	0	0	0	1	0	4	1	3	1	4	2	1	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129904331C>T	ENST00000368654.3	-	13	6148	c.5773G>A	c.(5773-5775)Gtg>Atg	p.V1925M	MKI67_ENST00000368653.3_Missense_Mutation_p.V1565M	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1925	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGTTTCTCCACTGGAGTCCCC	0.488													T	129904331	C	T	129904331	3	4	364	1	0	0	0	0	1	0	0	0	9673	565	20	2	4009	2	MKI67	10	129904331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1044	129904331	5630416	8237	31739											
MKI67	4288	broad.mit.edu	37	chr10	129906300	129906300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgatacttctcttgggTcgttgctttgtgcttgttgg	2	20	11	8	1	1	1	0	1	1	0	4	1	2	1	1	2	3	4	1	2	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906300T>C	ENST00000368654.3	-	13	4179	c.3804A>G	c.(3802-3804)cgA>cgG	p.R1268R	MKI67_ENST00000368653.3_Silent_p.R908R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1268	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTCTCTTGGGTCGTTGCTTTG	0.502													C	129906300	T	C	129906300	2	2	364	1	0	0	0	0	0	0	0	1	9673	1654	58	3		3	MKI67	10	129906300	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1969	129906300	5628447	8238	31740											
MKI67	4288	broad.mit.edu	37	chr10	129906896	129906896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggatctgctttggagactCcttaaacgttctgatgctct	8	14	9	10	1	3	2	0	1	3	1	4	4	4	3	1	2	3	3	1	2	2	3	rs143061680		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129906896C>T	ENST00000368654.3	-	13	3583	c.3208G>A	c.(3208-3210)Gag>Aag	p.E1070K	MKI67_ENST00000368653.3_Missense_Mutation_p.E710K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1070	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TTTGGAGACTCCTTAAACGTT	0.562													T	129906896	C	T	129906896	3	4	364	1	0	0	0	0	1	0	0	0	9673	864	30	2	6574	2	MKI67	10	129906896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596	129906896	5627851	8239	31741											
MKI67	4288	broad.mit.edu	37	chr10	129908731	129908731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctctgaatttgaaataGcgatgtgacatgtgcttgtc	11	15	9	6	1	1	3	0	3	1	0	3	4	1	3	0	0	2	1	0	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129908731G>A	ENST00000368654.3	-	12	2702	c.2327C>T	c.(2326-2328)gCt>gTt	p.A776V	MKI67_ENST00000368653.3_Missense_Mutation_p.A416V	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	776					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ATTTGAAATAGCGATGTGACA	0.408													A	129908731	G	A	129908731	3	1	364	1	0	0	0	0	1	0	0	0	9673	971	34	2	7459	2	MKI67	10	129908731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1835	129908731	5626016	8240	31742											
MKI67	4288	broad.mit.edu	37	chr10	129910032	129910032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattatggtacaaggagAgtttgcgtggcctgtactaa	11	14	11	5	1	0	1	0	0	0	1	0	2	0	1	1	3	3	3	1	3	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129910032A>G	ENST00000368654.3	-	11	2512	c.2137T>C	c.(2137-2139)Tct>Cct	p.S713P	MKI67_ENST00000484853.1_5'UTR|MKI67_ENST00000368653.3_Missense_Mutation_p.S353P	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	713					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GTACAAGGAGAGTTTGCGTGG	0.418													G	129910032	A	G	129910032	3	3	364	1	0	0	0	0	1	0	0	0	9673	304	11	3	7653	3	MKI67	10	129910032	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1301	129910032	5624715	8241	31743											
MKI67	4288	broad.mit.edu	37	chr10	129913277	129913277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtagtgcccaatttCtcaggcttgctgagggaatc	8	11	11	11	0	1	1	1	1	1	0	3	2	1	2	2	2	3	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:129913277C>A	ENST00000368654.3	-	7	1770	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	MKI67_ENST00000368653.3_Intron	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	465					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				TGCCCAATTTCTCAGGCTTGC	0.413													A	129913277	C	A	129913277	3	1	364	1	0	0	0	0	1	0	0	0	9673	912	32	4	8411	4	MKI67	10	129913277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3245	129913277	5621470	8242	31744											
MGMT	4255	broad.mit.edu	37	chr10	131506229	131506229	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcagtgcacagcctggCtgaatgcctatttccaccag	9	10	10	12	0	0	2	0	2	0	0	1	2	1	2	4	1	4	3	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:131506229C>T	ENST00000306010.7	+	3	321	c.289C>T	c.(289-291)Ctg>Ttg	p.L97L	MGMT_ENST00000462672.1_3'UTR	NM_002412.3	NP_002403.2	B4DEE8	B4DEE8_HUMAN	O-6-methylguanine-DNA methyltransferase	97										breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	10		all_cancers(35;9.44e-09)|all_epithelial(44;6.98e-08)|Lung NSC(174;0.0157)|all_lung(145;0.0201)|all_neural(114;0.0732)|Colorectal(57;0.0792)|Breast(234;0.167)		OV - Ovarian serous cystadenocarcinoma(35;0.00291)		CACAGCCTGGCTGAATGCCTA	0.597								Direct reversal of damage					T	131506229	C	T	131506229	2	4	364	1	0	0	0	0	0	0	0	1	9632	796	28	2		2	MGMT	10	131506229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1592952	131506229	4028518	8243	31745											
TCERG1L	256536	broad.mit.edu	37	chr10	132891569	132891569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtatttctctgcaaactcCttaaacgtggtcctgaaaaa	12	12	6	11	2	1	1	0	1	1	0	4	1	3	1	3	1	3	2	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:132891569C>A	ENST00000368642.4	-	12	1702	c.1617G>T	c.(1615-1617)aaG>aaT	p.K539N		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	539	FF 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		CTGCAAACTCCTTAAACGTGG	0.473													A	132891569	C	A	132891569	3	1	364	1	0	0	0	0	1	0	0	0	15786	680	24	4	147	4	TCERG1L	10	132891569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1385340	132891569	2643178	8244	31746											
PPP2R2D	55844	broad.mit.edu	37	chr10	133761112	133761112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatccgatgtaaaattcaGtcatagtgggcggtacatga	13	11	10	7	2	2	1	2	1	0	0	3	2	3	1	1	2	1	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133761112G>A	ENST00000422256.2	+	5	703	c.218G>A	c.(217-219)aGt>aAt	p.S73N	PPP2R2D_ENST00000470416.1_3'UTR			Q66LE6	2ABD_HUMAN	protein phosphatase 2, regulatory subunit B, delta	300					cell division|exit from mitosis|mitosis|signal transduction	cytoplasm|protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			endometrium(3)|large_intestine(3)|liver(1)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13		all_cancers(35;2.16e-12)|all_epithelial(44;2.77e-09)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Colorectal(31;0.0124)|Breast(234;0.023)|all_neural(114;0.0299)|Melanoma(40;0.123)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.86e-05)|Epithelial(32;8.82e-05)|all cancers(32;0.000106)|BRCA - Breast invasive adenocarcinoma(275;0.21)		GTAAAATTCAGTCATAGTGGG	0.463													A	133761112	G	A	133761112	3	1	364	1	0	0	0	0	1	0	0	0	12469	1029	36	2	823	2	PPP2R2D	10	133761112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	869543	133761112	1773635	8245	31747											
JAKMIP3	282973	broad.mit.edu	37	chr10	133954008	133954008	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggcttccctggaatcCgacggctcctccgtctctta	7	10	10	14	3	1	1	0	0	1	1	6	4	5	2	4	3	0	2	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:133954008C>T	ENST00000298622.4	+	9	1536	c.1398C>T	c.(1396-1398)tcC>tcT	p.S466S		NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		CCCTGGAATCCGACGGCTCCT	0.587													T	133954008	C	T	133954008	2	4	364	1	0	0	0	0	0	0	0	1	8000	639	23	1		1	JAKMIP3	10	133954008	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192896	133954008	1580739	8246	31748											
DPYSL4	10570	broad.mit.edu	37	chr10	134012358	134012358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcatctcgtccccaggtgGaggctgaggcggtgtaccga	6	9	14	12	3	2	1	1	1	2	0	5	3	3	2	3	5	1	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134012358G>A	ENST00000338492.4	+	8	858	c.694G>A	c.(694-696)Gag>Aag	p.E232K	DPYSL4_ENST00000368629.1_Missense_Mutation_p.E132K|DPYSL4_ENST00000368627.1_Missense_Mutation_p.E132K	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	232					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCCCCAGGTGGAGGCTGAGGC	0.657													A	134012358	G	A	134012358	3	1	364	1	0	0	0	0	1	0	0	0	4788	1175	41	2	724	2	DPYSL4	10	134012358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58350	134012358	1522389	8247	31749											
DPYSL4	10570	broad.mit.edu	37	chr10	134013930	134013930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacactactggagcaagaaCtgggccaaggccgcagcctt	11	6	11	13	1	1	1	1	0	0	1	1	2	1	2	3	3	4	2	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134013930C>T	ENST00000338492.4	+	9	1046	c.882C>T	c.(880-882)aaC>aaT	p.N294N	DPYSL4_ENST00000368629.1_Silent_p.N194N|DPYSL4_ENST00000368627.1_Silent_p.N194N	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	294					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		GGAGCAAGAACTGGGCCAAGG	0.652													T	134013930	C	T	134013930	2	4	364	1	0	0	0	0	0	0	0	1	4788	564	20	2		2	DPYSL4	10	134013930	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1572	134013930	1520817	8248	31750											
DPYSL4	10570	broad.mit.edu	37	chr10	134015524	134015524	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccaaaatcttcaatttttaCccaaggaaggggcgagtggc	12	9	11	9	1	2	0	1	0	1	0	2	2	2	1	2	4	1	0	2	4	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015524C>A	ENST00000338492.4	+	11	1349	c.1185C>A	c.(1183-1185)taC>taA	p.Y395*	DPYSL4_ENST00000368629.1_Nonsense_Mutation_p.Y295*|DPYSL4_ENST00000368627.1_Nonsense_Mutation_p.Y295*	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	395					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		TCAATTTTTACCCAAGGAAGG	0.532													A	134015524	C	A	134015524	4	1	364	1	0	0	0	0	0	1	0	0	4788	518	18	4	1227	4	DPYSL4	10	134015524	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1594	134015524	1519223	8249	31751											
DPYSL4	10570	broad.mit.edu	37	chr10	134015567	134015567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggctctgacgctgacctgGtcatatggaaccccaaggcc	8	8	12	13	1	2	2	1	2	1	0	2	3	2	3	4	4	1	2	4	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134015567G>A	ENST00000338492.4	+	11	1392	c.1228G>A	c.(1228-1230)Gtc>Atc	p.V410I	DPYSL4_ENST00000368629.1_Missense_Mutation_p.V310I|DPYSL4_ENST00000368627.1_Missense_Mutation_p.V310I	NM_006426.2	NP_006417.2	O14531	DPYL4_HUMAN	dihydropyrimidinase-like 4	410					axon guidance|pyrimidine base catabolic process	cytosol	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_cancers(35;4.33e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;7.21e-05)|Epithelial(32;8.01e-05)|all cancers(32;9.29e-05)|BRCA - Breast invasive adenocarcinoma(275;0.206)		CGCTGACCTGGTCATATGGAA	0.547													A	134015567	G	A	134015567	3	1	364	1	0	0	0	0	1	0	0	0	4788	1261	44	2	1270	2	DPYSL4	10	134015567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	134015567	1519180	8250	31752											
LRRC27	80313	broad.mit.edu	37	chr10	134165236	134165236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctccaggagaagcaggCtctgatggagcagcagagac	13	4	15	9	0	1	4	0	1	1	3	2	7	2	5	1	3	4	5	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134165236C>A	ENST00000392638.2	+	8	1342	c.1147C>A	c.(1147-1149)Ctc>Atc	p.L383I	LRRC27_ENST00000368613.4_Missense_Mutation_p.A351D|LRRC27_ENST00000432555.2_Missense_Mutation_p.A224D|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Missense_Mutation_p.A351D|LRRC27_ENST00000344079.5_Missense_Mutation_p.L383I|LRRC27_ENST00000368612.1_Missense_Mutation_p.A289D|LRRC27_ENST00000368610.3_Missense_Mutation_p.A289D|LRRC27_ENST00000368615.3_Missense_Mutation_p.A351D			Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	0										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		GAGAAGCAGGCTCTGATGGAG	0.612													A	134165236	C	A	134165236	3	1	364	1	0	0	0	0	1	0	0	0	9051	797	28	4	1173	4	LRRC27	10	134165236	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149669	134165236	1369511	8251	31753											
PWWP2B	170394	broad.mit.edu	37	chr10	134219521	134219521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttccttggtggccggCgcgtgttcttgacatcagtc	3	15	13	10	3	2	1	1	1	1	0	4	1	3	1	2	4	0	2	2	4	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:134219521C>T	ENST00000305233.5	+	2	1576	c.1517C>T	c.(1516-1518)gCg>gTg	p.A506V	PWWP2B_ENST00000368609.4_Intron	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	506	PWWP.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TGGTGGCCGGCGCGTGTTCTT	0.597													T	134219521	C	T	134219521	3	4	364	1	0	0	0	0	1	0	0	0	12934	768	27	1	1523	1	PWWP2B	10	134219521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54285	134219521	1315226	8252	31754											
KNDC1	85442	broad.mit.edu	37	chr10	135015155	135015155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccgagagagcgcagcAgcctgaggctggcgaggaca	13	2	16	10	3	0	2	0	1	0	1	0	6	0	3	2	3	4	3	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135015155A>G	ENST00000304613.3	+	17	3161	c.3140A>G	c.(3139-3141)cAg>cGg	p.Q1047R	KNDC1_ENST00000368571.2_Missense_Mutation_p.Q982R|KNDC1_ENST00000368572.2_Missense_Mutation_p.Q1049R			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1047					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		AGAGCGCAGCAGCCTGAGGCT	0.667													G	135015155	A	G	135015155	3	3	364	1	0	0	0	0	1	0	0	0	8484	188	7	3	3206	3	KNDC1	10	135015155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	795634	135015155	519592	8253	31755											
VENTX	27287	broad.mit.edu	37	chr10	135053709	135053709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctgctgcgggcagcctctgGcgtcccacccccctacccca	4	6	9	22	2	1	0	0	0	1	0	2	0	2	0	8	2	4	2	8	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135053709G>A	ENST00000325980.9	+	3	1187	c.676G>A	c.(676-678)Gcg>Acg	p.A226T		NM_014468.3	NP_055283.1	O95231	VENTX_HUMAN	VENT homeobox	226					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|large_intestine(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(1)	14		all_cancers(35;4.15e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;7.8e-06)|Epithelial(32;9.31e-06)|all cancers(32;1.19e-05)		GCAGCCTCTGGCGTCCCACCC	0.692													A	135053709	G	A	135053709	3	1	364	1	0	0	0	0	1	0	0	0	17255	1203	42	2	686	2	VENTX	10	135053709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38554	135053709	481038	8254	31756											
ADAM8	101	broad.mit.edu	37	chr10	135085933	135085933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcacgtgatgagctgtaCgttgtcatgcaggtgccgcc	7	10	13	11	3	2	2	2	2	0	0	2	2	2	2	2	1	5	5	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135085933C>T	ENST00000445355.3	-	9	912	c.862G>A	c.(862-864)Gta>Ata	p.V288I	ADAM8_ENST00000485491.2_Missense_Mutation_p.V249I|ADAM8_ENST00000415217.3_Missense_Mutation_p.V288I	NM_001109.4	NP_001100.3	B4DVM6	B4DVM6_HUMAN	ADAM metallopeptidase domain 8	249					integrin-mediated signaling pathway|proteolysis		metalloendopeptidase activity			central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)	17		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;7.72e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.23e-06)|Epithelial(32;1.02e-05)		ATGAGCTGTACGTTGTCATGC	0.687													T	135085933	C	T	135085933	3	4	364	1	0	0	0	0	1	0	0	0	252	536	19	1	1590	1	ADAM8	10	135085933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32224	135085933	448814	8255	31757											
TUBGCP2	10844	broad.mit.edu	37	chr10	135102452	135102452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacgcccgctcttttaacGtgtagatgatctctttagcc	8	14	7	12	3	2	2	0	1	2	1	3	2	2	2	2	0	3	2	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135102452G>A	ENST00000368563.2	-	10	1789	c.1433C>T	c.(1432-1434)aCg>aTg	p.T478M	TUBGCP2_ENST00000252936.3_Missense_Mutation_p.T478M|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.T71M|TUBGCP2_ENST00000543663.1_Missense_Mutation_p.T506M|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.T348M	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	478					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CTCTTTTAACGTGTAGATGAT	0.478													A	135102452	G	A	135102452	3	1	364	1	0	0	0	0	1	0	0	0	16868	1145	40	1	1311	1	TUBGCP2	10	135102452	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16519	135102452	432295	8256	31758											
ZNF511	118472	broad.mit.edu	37	chr10	135125423	135125423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggctgcacctgggccgCagctcttctcatactgaatt	6	12	10	13	1	3	1	1	1	3	0	4	1	3	1	2	2	3	4	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135125423C>T	ENST00000359035.3	+	5	761	c.758C>T	c.(757-759)gCa>gTa	p.A253V	ZNF511_ENST00000368554.4_Intron|ZNF511_ENST00000361518.5_Intron|ZNF511_ENST00000463816.2_Intron			Q8NB15	ZN511_HUMAN	zinc finger protein 511	253					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		all cancers(32;7.56e-06)|OV - Ovarian serous cystadenocarcinoma(35;8.15e-06)|Epithelial(32;9.99e-06)		ACCTGGGCCGCAGCTCTTCTC	0.493													T	135125423	C	T	135125423	3	4	364	1	0	0	0	0	1	0	0	0	18056	725	25	2		2	ZNF511	10	135125423	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22971	135125423	409324	8257	31759											
ECHS1	1892	broad.mit.edu	37	chr10	135176413	135176413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcttttccacaaacgCggtcatcccttctttccggt	5	16	5	15	3	3	0	1	0	2	0	7	0	6	0	3	2	1	0	3	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135176413C>T	ENST00000368547.3	-	8	1187	c.832G>A	c.(832-834)Gcg>Acg	p.A278T		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	278					fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		TCCACAAACGCGGTCATCCCT	0.542													T	135176413	C	T	135176413	3	4	364	1	0	0	0	0	1	0	0	0	4935	768	27	1	44	1	ECHS1	10	135176413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50990	135176413	358334	8258	31760											
PAOX	196743	broad.mit.edu	37	chr10	135204907	135204907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggagggaggccgaccGcctcctcagtctgtgggccc	5	6	17	13	2	2	0	1	0	1	0	3	4	3	3	5	5	0	0	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135204907G>A	ENST00000278060.5	+	7	1567	c.1484G>A	c.(1483-1485)cGc>cAc	p.R495H	PAOX_ENST00000368535.2_3'UTR|PAOX_ENST00000368539.4_3'UTR|PAOX_ENST00000480071.2_3'UTR|PAOX_ENST00000357296.3_Silent_p.P442P|RP11-108K14.8_ENST00000468317.2_Silent_p.P34P	NM_152911.2	NP_690875.1	Q6QHF9	PAOX_HUMAN	polyamine oxidase (exo-N4-amino)	633					polyamine biosynthetic process|xenobiotic metabolic process	peroxisomal matrix	polyamine oxidase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|urinary_tract(2)	23		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;4.39e-07)|OV - Ovarian serous cystadenocarcinoma(35;1.21e-06)|Epithelial(32;1.94e-06)		GAGGCCGACCGCCTCCTCAGT	0.662													A	135204907	G	A	135204907	3	1	364	1	0	0	0	0	1	0	0	0	11499	1087	38	1	1510	1	PAOX	10	135204907	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28494	135204907	329840	8259	31761											
FRG2B	441581	broad.mit.edu	37	chr10	135438839	135438839	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctgctcacaggtaagtgGagaatggatctgctgtgccc	9	9	13	10	0	2	1	1	0	1	1	2	3	2	2	1	3	4	4	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr10:135438839G>T	ENST00000443774.1	-	4	653	c.604C>A	c.(604-606)Cca>Aca	p.P202T	FRG2B_ENST00000425520.1_Missense_Mutation_p.P201T			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	201						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CAGGTAAGTGGAGAATGGATC	0.552													T	135438839	G	T	135438839	3	4	364	1	0	0	0	0	1	0	0	0	6099	1174	41	4	238	4	FRG2B	10	135438839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	233932	135438839	95908	8260	31762											
B4GALNT4	338707	broad.mit.edu	37	chr11	373108	373108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtttcatccacccggCgagggacggtacgggggtga	6	10	16	9	4	1	1	1	1	0	0	2	3	2	2	2	6	1	2	2	6	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:373108C>T	ENST00000329962.6	+	5	527	c.527C>T	c.(526-528)gCg>gTg	p.A176V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	176						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity	p.A176E(1)		endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ATCCACCCGGCGAGGGACGGT	0.627													T	373108	C	T	373108	3	4	364	1	0	0	0	0	1	0	0	0	1274	768	27	1	545	1	B4GALNT4	11	373108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		373108	134633408	8261	31763											
B4GALNT4	338707	broad.mit.edu	37	chr11	380183	380183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccgccgggctgcaggCgggagtggacgcggtagagg	5	4	21	11	6	0	1	0	0	0	1	1	3	1	3	2	6	1	4	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:380183C>T	ENST00000329962.6	+	17	2696	c.2696C>T	c.(2695-2697)gCg>gTg	p.A899V		NM_178537.4	NP_848632.2	Q76KP1	B4GN4_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 4	899						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			endometrium(2)|kidney(4)|large_intestine(1)|liver(2)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGCTGCAGGCGGGAGTGGAC	0.711													T	380183	C	T	380183	3	4	364	1	0	0	0	0	1	0	0	0	1274	768	27	1	2762	1	B4GALNT4	11	380183	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7075	380183	134626333	8262	31764											
PKP3	11187	broad.mit.edu	37	chr11	396684	396684	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgagtggggacaagacCtcggtgagcgatgggcccag	8	5	18	10	2	0	3	0	2	0	1	1	5	0	4	3	5	1	0	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:396684C>A	ENST00000331563.2	+	2	385	c.309C>A	c.(307-309)acC>acA	p.T103T	PKP3_ENST00000530695.1_3'UTR	NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	103					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGGACAAGACCTCGGTGAGCG	0.672													A	396684	C	A	396684	2	1	364	1	0	0	0	0	0	0	0	1	12063	668	24	4		4	PKP3	11	396684	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16501	396684	134609832	8263	31765											
SIGIRR	59307	broad.mit.edu	37	chr11	408207	408207	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacaggttggccttgaccCtggggataccaagccagggt	8	8	14	11	0	0	2	0	2	0	0	0	3	0	3	4	5	2	1	4	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:408207C>A	ENST00000431843.2	-	4	513		c.e4-1		SIGIRR_ENST00000397632.3_Splice_Site|SIGIRR_ENST00000382520.2_Splice_Site|SIGIRR_ENST00000531205.1_Splice_Site|SIGIRR_ENST00000332725.3_Splice_Site|SIGIRR_ENST00000529486.1_Splice_Site	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain						acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCCTTGACCCTGGGGATACC	0.612													A	408207	C	A	408207	5	1	364	1	0	0	0	0	0	0	1	0	14398	695	24	4	1054	4	SIGIRR	11	408207	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11523	408207	134598309	8264	31766											
ANO9	338440	broad.mit.edu	37	chr11	428179	428179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgaacctgctctctcgctCcgagaaggtcctgggcatct	6	10	12	13	2	2	2	0	1	2	1	6	3	4	2	3	3	2	3	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:428179C>T	ENST00000332826.6	-	15	1327	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	415						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CTCTCTCGCTCCGAGAAGGTC	0.607													T	428179	C	T	428179	3	4	364	1	0	0	0	0	1	0	0	0	704	864	30	2	1141	2	ANO9	11	428179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19972	428179	134578337	8265	31767											
RNH1	6050	broad.mit.edu	37	chr11	498076	498076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtagctccaggagaaacCtgttctgggccagcactgag	9	9	12	11	0	2	2	0	1	2	1	3	3	3	2	3	2	3	4	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:498076C>A	ENST00000534797.1	-	7	2429	c.1022G>T	c.(1021-1023)aGg>aTg	p.R341M	RNH1_ENST00000397604.3_Missense_Mutation_p.R341M|RNH1_ENST00000397614.1_Missense_Mutation_p.R341M|RNH1_ENST00000356187.5_Missense_Mutation_p.R341M|RNH1_ENST00000438658.2_Missense_Mutation_p.R341M|RNH1_ENST00000533410.1_Missense_Mutation_p.R341M|RNH1_ENST00000354420.2_Missense_Mutation_p.R341M|RNH1_ENST00000397615.2_Missense_Mutation_p.R341M			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	341					mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGAGAAACCTGTTCTGGGC	0.642													A	498076	C	A	498076	3	1	364	1	0	0	0	0	1	0	0	0	13595	681	24	4	375	4	RNH1	11	498076	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69897	498076	134508440	8266	31768											
RNH1	6050	broad.mit.edu	37	chr11	499119	499119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgagctccttgaagtcCggcttggccctgagcacgga	7	8	13	13	3	0	3	0	3	0	0	2	4	2	4	4	3	2	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:499119C>T	ENST00000534797.1	-	4	1917	c.510G>A	c.(508-510)ccG>ccA	p.P170P	RNH1_ENST00000397604.3_Silent_p.P170P|RNH1_ENST00000397614.1_Silent_p.P170P|RNH1_ENST00000356187.5_Silent_p.P170P|RNH1_ENST00000438658.2_Silent_p.P170P|RNH1_ENST00000533410.1_Silent_p.P170P|RNH1_ENST00000354420.2_Silent_p.P170P|RNH1_ENST00000397615.2_Silent_p.P170P			P13489	RINI_HUMAN	ribonuclease/angiogenin inhibitor 1	170			P -> L (in dbSNP:rs17585).		mRNA catabolic process|regulation of angiogenesis	angiogenin-PRI complex|cytoplasm	protein binding|ribonuclease inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.26e-26)|Epithelial(43;1.34e-25)|OV - Ovarian serous cystadenocarcinoma(40;5.31e-20)|BRCA - Breast invasive adenocarcinoma(625;8.01e-05)|Lung(200;0.0378)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGAAGTCCGGCTTGGCCC	0.647													T	499119	C	T	499119	2	4	364	1	0	0	0	0	0	0	0	1	13595	639	23	1		1	RNH1	11	499119	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1043	499119	134507397	8267	31769											
LRRC56	115399	broad.mit.edu	37	chr11	550080	550080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgctgcccaggaactctaCgcctcctacaacaacatctc	10	7	6	18	3	2	0	0	0	2	0	4	1	3	1	3	1	6	1	3	1	5	2	rs140852130	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:550080C>T	ENST00000270115.7	+	8	932	c.432C>T	c.(430-432)taC>taT	p.Y144Y		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	144										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AGGAACTCTACGCCTCCTACA	0.657													T	550080	C	T	550080	2	4	364	1	0	0	0	0	0	0	0	1	9082	547	19	1		1	LRRC56	11	550080	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50961	550080	134456436	8268	31770											
LRRC56	115399	broad.mit.edu	37	chr11	554168	554168	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctggaggtggcctcacgCctgagccctcgagcccaggg	5	5	15	16	2	1	1	1	1	0	0	2	3	1	2	5	4	2	0	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:554168C>T	ENST00000270115.7	+	14	2021	c.1521C>T	c.(1519-1521)cgC>cgT	p.R507R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	507			R -> G (in dbSNP:rs10902170).							kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGGCCTCACGCCTGAGCCCTC	0.697													T	554168	C	T	554168	2	4	364	1	0	0	0	0	0	0	0	1	9082	726	26	2		2	LRRC56	11	554168	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4088	554168	134452348	8269	31771											
C11orf35	256329	broad.mit.edu	37	chr11	558622	558622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgcagacctcttgggCggaagccccgccacctcttc	5	9	11	16	2	2	1	0	0	2	1	3	2	2	2	5	2	3	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:558622C>T	ENST00000329451.3	-	3	365	c.303G>A	c.(301-303)ccG>ccA	p.P101P	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN	chromosome 11 open reading frame 35	101										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTCTTGGGCGGAAGCCCCG	0.667													T	558622	C	T	558622	2	4	364	1	0	0	0	0	0	0	0	1	1650	755	27	1		1	C11orf35	11	558622	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4454	558622	134447894	8270	31772											
PHRF1	57661	broad.mit.edu	37	chr11	587330	587330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaggggaaactggaagccGctggctctttcaattctgat	9	11	11	10	1	4	1	2	1	2	0	4	3	4	3	1	4	2	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:587330G>A	ENST00000264555.5	+	4	414	c.286G>A	c.(286-288)Gct>Act	p.A96T	PHRF1_ENST00000413872.2_Missense_Mutation_p.A95T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A92T|PHRF1_ENST00000416188.2_Missense_Mutation_p.A96T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	96							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACTGGAAGCCGCTGGCTCTTT	0.557													A	587330	G	A	587330	3	1	364	1	0	0	0	0	1	0	0	0	11938	1087	38	1	296	1	PHRF1	11	587330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28708	587330	134419186	8271	31773											
PHRF1	57661	broad.mit.edu	37	chr11	592614	592614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacccgaccttctgtgAggtgtgcggcaggagcgacc	7	6	17	11	3	1	1	0	1	1	0	1	6	1	4	3	5	2	1	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:592614A>G	ENST00000264555.5	+	6	688	c.560A>G	c.(559-561)gAg>gGg	p.E187G	PHRF1_ENST00000413872.2_Missense_Mutation_p.E186G|PHRF1_ENST00000533464.1_Missense_Mutation_p.E183G|PHRF1_ENST00000416188.2_Missense_Mutation_p.E187G	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	187							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCTTCTGTGAGGTGTGCGGC	0.627													G	592614	A	G	592614	3	3	364	1	0	0	0	0	1	0	0	0	11938	304	11	3	578	3	PHRF1	11	592614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5284	592614	134413902	8272	31774											
PHRF1	57661	broad.mit.edu	37	chr11	607285	607285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccagcagcccctggggCggttcaggctcggaacttgt	5	9	14	13	2	1	0	1	0	0	0	2	1	1	1	3	5	4	3	3	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:607285C>T	ENST00000264555.5	+	14	1957	c.1829C>T	c.(1828-1830)gCg>gTg	p.A610V	PHRF1_ENST00000413872.2_Missense_Mutation_p.A608V|PHRF1_ENST00000533464.1_Missense_Mutation_p.A606V|PHRF1_ENST00000416188.2_Missense_Mutation_p.A609V	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	610							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCCCCTGGGGCGGTTCAGGCT	0.667													T	607285	C	T	607285	3	4	364	1	0	0	0	0	1	0	0	0	11938	768	27	1	1876	1	PHRF1	11	607285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14671	607285	134399231	8273	31775											
PHRF1	57661	broad.mit.edu	37	chr11	608157	608157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctctcggaccgtcctccGccatgtccaagctccggggt	4	8	10	19	4	1	0	0	0	1	0	6	1	5	1	8	3	1	1	8	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608157G>A	ENST00000264555.5	+	14	2829	c.2701G>A	c.(2701-2703)Gcc>Acc	p.A901T	PHRF1_ENST00000413872.2_Missense_Mutation_p.A899T|PHRF1_ENST00000533464.1_Missense_Mutation_p.A897T|PHRF1_ENST00000416188.2_Missense_Mutation_p.A900T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	901							RNA polymerase binding|zinc ion binding	p.A906S(1)|p.A901S(1)		breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						ACCGTCCTCCGCCATGTCCAA	0.692													A	608157	G	A	608157	3	1	364	1	0	0	0	0	1	0	0	0	11938	1087	38	1	2748	1	PHRF1	11	608157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	872	608157	134398359	8274	31776											
PHRF1	57661	broad.mit.edu	37	chr11	608259	608259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctgcccggctgcggaggCcatcccccccagagccctgg	4	5	14	18	2	0	1	0	0	0	1	1	2	1	2	6	5	3	2	6	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:608259C>T	ENST00000264555.5	+	14	2931	c.2803C>T	c.(2803-2805)Cca>Tca	p.P935S	PHRF1_ENST00000413872.2_Missense_Mutation_p.P933S|PHRF1_ENST00000533464.1_Missense_Mutation_p.P931S|PHRF1_ENST00000416188.2_Missense_Mutation_p.P934S	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	935							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GCTGCGGAGGCCATCCCCCCC	0.682													T	608259	C	T	608259	3	4	364	1	0	0	0	0	1	0	0	0	11938	739	26	2	2850	2	PHRF1	11	608259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	608259	134398257	8275	31777											
PHRF1	57661	broad.mit.edu	37	chr11	609157	609157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctcgccggaggtggctaCggccgacaaggcccccctgc	5	6	14	16	4	1	0	0	0	1	0	2	2	1	1	5	5	2	1	5	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:609157C>T	ENST00000264555.5	+	14	3829	c.3701C>T	c.(3700-3702)aCg>aTg	p.T1234M	PHRF1_ENST00000413872.2_Missense_Mutation_p.T1232M|PHRF1_ENST00000533464.1_Missense_Mutation_p.T1230M|PHRF1_ENST00000416188.2_Missense_Mutation_p.T1233M	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1234							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GAGGTGGCTACGGCCGACAAG	0.692													T	609157	C	T	609157	3	4	364	1	0	0	0	0	1	0	0	0	11938	536	19	1	3748	1	PHRF1	11	609157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	898	609157	134397359	8276	31778											
IRF7	3665	broad.mit.edu	37	chr11	612999	612999	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaggctctggtctcacCttcaccaggaccaggctctt	6	11	9	15	0	4	1	2	1	3	0	5	2	4	2	4	4	0	2	4	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:612999C>A	ENST00000397566.1	-	8	1804	c.1395G>T	c.(1393-1395)aaG>aaT	p.K465N	IRF7_ENST00000330243.5_Splice_Site_p.K465N|IRF7_ENST00000348655.6_Splice_Site_p.K423N|IRF7_ENST00000397574.2_Splice_Site_p.K452N|IRF7_ENST00000397562.3_Splice_Site_p.K159N|IRF7_ENST00000397570.1_Splice_Site_p.K423N|IRF7_ENST00000525445.1_Splice_Site_p.K346N	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	452					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGTCTCACCTTCACCAGGA	0.652													A	612999	C	A	612999	5	1	364	1	0	0	0	0	0	0	1	0	7893	695	24	4	163	4	IRF7	11	612999	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3842	612999	134393517	8277	31779											
IRF7	3665	broad.mit.edu	37	chr11	613580	613580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgatggtcacgtccagcGcccctgggctgggctctgtg	5	9	14	13	2	2	1	1	1	1	0	3	1	3	1	3	3	1	2	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:613580G>A	ENST00000397566.1	-	7	1311	c.902C>T	c.(901-903)gCg>gTg	p.A301V	IRF7_ENST00000330243.5_Missense_Mutation_p.A301V|IRF7_ENST00000348655.6_Missense_Mutation_p.A259V|IRF7_ENST00000397574.2_Missense_Mutation_p.A288V|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.A259V|IRF7_ENST00000525445.1_Missense_Mutation_p.A182V	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	288					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CACGTCCAGCGCCCCTGGGCT	0.667													A	613580	G	A	613580	3	1	364	1	0	0	0	0	1	0	0	0	7893	1087	38	1	660	1	IRF7	11	613580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	581	613580	134392936	8278	31780											
CDHR5	53841	broad.mit.edu	37	chr11	621608	621608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaatgtcgtccttgtcgCggtcctcagcctgcagttgc	6	11	11	13	3	1	1	1	0	0	1	5	1	3	1	3	1	3	2	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:621608C>T	ENST00000358353.3	-	6	783	c.461G>A	c.(460-462)cGc>cAc	p.R154H	CDHR5_ENST00000397542.2_Missense_Mutation_p.R154H|CDHR5_ENST00000349570.7_Missense_Mutation_p.R154H			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	154	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTCCTTGTCGCGGTCCTCAGC	0.637													T	621608	C	T	621608	3	4	364	1	0	0	0	0	1	0	0	0	3152	768	27	1	2120	1	CDHR5	11	621608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8028	621608	134384908	8279	31781											
DEAF1	10522	broad.mit.edu	37	chr11	686916	686916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcttttccagtccttaCtgctggctcttcctgccatg	3	17	7	14	0	2	0	0	0	2	0	5	0	5	0	4	1	4	3	4	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:686916C>T	ENST00000382409.3	-	5	1230	c.746G>A	c.(745-747)aGt>aAt	p.S249N	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	249	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		CCAGTCCTTACTGCTGGCTCT	0.602													T	686916	C	T	686916	3	4	364	1	0	0	0	0	1	0	0	0	4414	565	20	2	983	2	DEAF1	11	686916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65308	686916	134319600	8280	31782											
TALDO1	6888	broad.mit.edu	37	chr11	755902	755902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgacgagtacaagccccagGatgctaccaccaacccgtcc	11	5	8	17	3	0	0	0	0	0	0	2	3	1	1	6	1	5	2	6	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:755902G>A	ENST00000319006.3	+	2	274	c.121G>A	c.(121-123)Gat>Aat	p.D41N	TALDO1_ENST00000528097.1_Missense_Mutation_p.D41N			P37837	TALDO_HUMAN	transaldolase 1	41					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CAAGCCCCAGGATGCTACCAC	0.552													A	755902	G	A	755902	3	1	364	1	0	0	0	0	1	0	0	0	15640	1174	41	2	127	2	TALDO1	11	755902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68986	755902	134250614	8281	31783											
PDDC1	347862	broad.mit.edu	37	chr11	771345	771345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcaccactgaagcaggCgcccgaatccttcacgaagt	11	6	10	14	3	2	1	2	1	0	0	3	3	3	1	3	2	1	2	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:771345C>T	ENST00000319863.8	-	6	553	c.532G>A	c.(532-534)Gcc>Acc	p.A178T	PDDC1_ENST00000524550.1_Missense_Mutation_p.A142T|PDDC1_ENST00000526325.1_3'UTR|PDDC1_ENST00000529966.1_5'UTR|PDDC1_ENST00000442059.2_Missense_Mutation_p.A128T|PDDC1_ENST00000397472.2_Missense_Mutation_p.A178T	NM_182612.2	NP_872418.1	Q8NB37	PDDC1_HUMAN	Parkinson disease 7 domain containing 1	178						extracellular region				kidney(1)|lung(3)|urinary_tract(1)	5		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;3.66e-26)|Epithelial(43;2.43e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.33e-19)|BRCA - Breast invasive adenocarcinoma(625;4.29e-05)|Lung(200;0.0582)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGAAGCAGGCGCCCGAATCC	0.697													T	771345	C	T	771345	3	4	364	1	0	0	0	0	1	0	0	0	11705	768	27	1	142	1	PDDC1	11	771345	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15443	771345	134235171	8282	31784											
SLC25A22	79751	broad.mit.edu	37	chr11	792355	792355	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcccagccacacagccggCcaggaaggacacgtagaaag	14	2	11	14	2	0	1	0	0	0	1	1	3	1	3	4	3	2	1	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:792355C>A	ENST00000320230.5	-	8	1172	c.691G>T	c.(691-693)Gcc>Tcc	p.A231S	SLC25A22_ENST00000531214.1_Missense_Mutation_p.A231S	NM_001191061.1|NM_024698.5	NP_001177990.1|NP_078974.1	Q9H936	GHC1_HUMAN	solute carrier family 25 (mitochondrial carrier: glutamate), member 22	231						integral to membrane|mitochondrial inner membrane|nucleus	L-glutamate transmembrane transporter activity|protein binding|symporter activity			endometrium(1)|kidney(1)|lung(2)|urinary_tract(1)	5		all_cancers(49;4.75e-06)|all_epithelial(84;0.00204)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;6.27e-26)|Epithelial(43;4.84e-25)|OV - Ovarian serous cystadenocarcinoma(40;2.72e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	L-Glutamic Acid(DB00142)	ACACAGCCGGCCAGGAAGGAC	0.667													A	792355	C	A	792355	3	1	364	1	0	0	0	0	1	0	0	0	14579	739	26	4	292	4	SLC25A22	11	792355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21010	792355	134214161	8283	31785											
CD151	977	broad.mit.edu	37	chr11	836123	836123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcaccgtttgcctcaagtaCctgctgtttacctacaattg	8	13	8	12	1	1	0	1	0	0	0	1	0	1	0	4	1	5	5	4	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:836123C>T	ENST00000397420.3	+	3	303	c.54C>T	c.(52-54)taC>taT	p.Y18Y	CD151_ENST00000528011.1_Silent_p.Y18Y|CD151_ENST00000322008.4_Silent_p.Y18Y|CD151_ENST00000397421.1_Silent_p.Y18Y			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	18					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCCTCAAGTACCTGCTGTTTA	0.632													T	836123	C	T	836123	2	4	364	1	0	0	0	0	0	0	0	1	2995	518	18	2		2	CD151	11	836123	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43768	836123	134170393	8284	31786											
TSPAN4	7106	broad.mit.edu	37	chr11	866626	866626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcagacacctactgcgCgtaggccgcccaccgcccgc	8	3	11	19	5	0	1	0	0	0	1	0	1	0	1	5	2	2	2	5	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:866626C>T	ENST00000397404.1	+	9	972	c.713C>T	c.(712-714)gCg>gTg	p.A238V	TSPAN4_ENST00000397411.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000346501.4_Missense_Mutation_p.A204V|TSPAN4_ENST00000409543.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397408.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000397406.1_Missense_Mutation_p.A238V|TSPAN4_ENST00000397397.2_Missense_Mutation_p.A238V|TSPAN4_ENST00000397396.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000525201.1_Missense_Mutation_p.A174V|TSPAN4_ENST00000409531.1_Missense_Mutation_p.A257V	NM_001025237.1	NP_001020408.1	O14817	TSN4_HUMAN	tetraspanin 4	238					protein complex assembly	integral to plasma membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)	3		all_cancers(49;2.64e-08)|all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)		all cancers(45;4.32e-25)|Epithelial(43;3.29e-24)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACCTACTGCGCGTAGGCCGCC	0.652													T	866626	C	T	866626	3	4	364	1	0	0	0	0	1	0	0	0	16750	768	27	1	739	1	TSPAN4	11	866626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30503	866626	134139890	8285	31787											
CHID1	66005	broad.mit.edu	37	chr11	883219	883219	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatagaagttgagccccagGaggattttgcttcgccactt	9	11	10	11	1	0	2	0	1	0	1	1	4	0	4	4	2	2	2	4	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:883219G>T	ENST00000449825.1	-	10	1244	c.888C>A	c.(886-888)ctC>ctA	p.L296L	CHID1_ENST00000323541.7_Silent_p.L326L|CHID1_ENST00000323578.8_Silent_p.L296L|CHID1_ENST00000526714.1_5'UTR|CHID1_ENST00000436108.2_Silent_p.L296L|CHID1_ENST00000336845.5_Silent_p.L321L|CHID1_ENST00000528581.1_Silent_p.L321L|CHID1_ENST00000429789.2_Silent_p.L265L|CHID1_ENST00000454838.2_Silent_p.L321L	NM_001142675.1	NP_001136147.1	Q9BWS9	CHID1_HUMAN	chitinase domain containing 1	296					chitin catabolic process|innate immune response	extracellular region|lysosome	cation binding|chitinase activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	13		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.48e-25)|Epithelial(43;3.75e-24)|BRCA - Breast invasive adenocarcinoma(625;4.65e-05)|Lung(200;0.0624)|LUSC - Lung squamous cell carcinoma(625;0.0735)		TGAGCCCCAGGAGGATTTTGC	0.632													T	883219	G	T	883219	2	4	364	1	0	0	0	0	0	0	0	1	3375	1161	41	4		4	CHID1	11	883219	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16593	883219	134123297	8286	31788											
AP2A2	161	broad.mit.edu	37	chr11	977142	977142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggccctgtgcttgctgcGcctgtacaggacgtcccccg	3	8	13	17	5	0	0	0	0	0	0	1	1	1	1	4	2	4	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:977142G>A	ENST00000448903.2	+	5	662	c.521G>A	c.(520-522)cGc>cAc	p.R174H	AP2A2_ENST00000534328.1_Missense_Mutation_p.R174H|AP2A2_ENST00000332231.5_Missense_Mutation_p.R174H	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	174					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		TGCTTGCTGCGCCTGTACAGG	0.587													A	977142	G	A	977142	3	1	364	1	0	0	0	0	1	0	0	0	742	1087	38	1	539	1	AP2A2	11	977142	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93923	977142	134029374	8287	31789											
AP2A2	161	broad.mit.edu	37	chr11	1006602	1006602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccaacactaatctgttcaGacgaccttcagcctaatatc	12	10	4	15	1	3	1	2	0	1	1	4	2	3	1	4	0	2	1	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1006602G>A	ENST00000448903.2	+	17	2422	c.2281G>A	c.(2281-2283)Gac>Aac	p.D761N	AP2A2_ENST00000534328.1_Intron|AP2A2_ENST00000525891.1_3'UTR|AP2A2_ENST00000332231.5_Missense_Mutation_p.D762N	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	761					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		AATCTGTTCAGACGACCTTCA	0.423													A	1006602	G	A	1006602	3	1	364	1	0	0	0	0	1	0	0	0	742	942	33	2	2347	2	AP2A2	11	1006602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29460	1006602	133999914	8288	31790											
MUC6	4588	broad.mit.edu	37	chr11	1016442	1016442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgattagttgtggaaacaGgagtggttgcagaactcaag	12	10	14	5	0	1	2	1	1	0	1	1	4	1	4	0	3	3	4	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1016442G>A	ENST00000421673.2	-	31	6409	c.6359C>T	c.(6358-6360)cCt>cTt	p.P2120L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	2120	Ser-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGTGGAAACAGGAGTGGTTGC	0.527													A	1016442	G	A	1016442	3	1	364	1	0	0	0	0	1	0	0	0	10056	1000	35	2	972	2	MUC6	11	1016442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9840	1016442	133990074	8289	31791											
MUC6	4588	broad.mit.edu	37	chr11	1018737	1018737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgtcgtctgggtggccGttgttcctggcagttcctga	2	13	15	11	2	1	1	0	1	1	0	4	1	3	1	4	4	0	4	4	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1018737G>A	ENST00000421673.2	-	31	4114	c.4064C>T	c.(4063-4065)aCg>aTg	p.T1355M		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1355	Pro-rich.|Thr-rich.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CTGGGTGGCCGTTGTTCCTGG	0.582													A	1018737	G	A	1018737	3	1	364	1	0	0	0	0	1	0	0	0	10056	1145	40	1	3267	1	MUC6	11	1018737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2295	1018737	133987779	8290	31792											
MUC6	4588	broad.mit.edu	37	chr11	1024853	1024853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggtgcccaccttgctgtgGcaggtggcaaaggtctggct	5	9	15	12	1	1	0	0	0	1	0	1	0	1	0	3	6	2	4	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1024853G>A	ENST00000421673.2	-	24	3266	c.3216C>T	c.(3214-3216)tgC>tgT	p.C1072C		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1072	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTTGCTGTGGCAGGTGGCAA	0.672													A	1024853	G	A	1024853	2	1	364	1	0	0	0	0	0	0	0	1	10056	1195	42	2		2	MUC6	11	1024853	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6116	1024853	133981663	8291	31793											
MUC6	4588	broad.mit.edu	37	chr11	1028756	1028756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggccatctggaggtgggtgGacgtctgcctgaagaccgtg	6	9	17	9	2	2	2	0	1	2	1	2	4	2	4	3	5	1	0	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1028756G>A	ENST00000421673.2	-	13	1531	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	494	VWFD 2.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAGGTGGGTGGACGTCTGCCT	0.657													A	1028756	G	A	1028756	3	1	364	1	0	0	0	0	1	0	0	0	10056	1174	41	2	5922	2	MUC6	11	1028756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3903	1028756	133977760	8292	31794											
MUC2	4583	broad.mit.edu	37	chr11	1077647	1077647	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcattgagaagagcgatGcctacaccaaagtctactcc	12	9	8	12	1	2	2	1	1	1	2	3	4	3	2	3	0	5	1	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1077647G>T	ENST00000441003.2	+	3	424	c.397G>T	c.(397-399)Gcc>Tcc	p.A133S	MUC2_ENST00000359061.5_Missense_Mutation_p.A133S	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	133	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAAGAGCGATGCCTACACCAA	0.672													T	1077647	G	T	1077647	3	4	364	1	0	0	0	0	1	0	0	0	10051	1319	46	4	407	4	MUC2	11	1077647	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48891	1077647	133928869	8293	31795											
MUC2	4583	broad.mit.edu	37	chr11	1082672	1082672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacgcgcgcgcctgcaccGccaagggcgtcatgctgtgg	5	6	14	16	6	1	0	1	0	0	0	1	0	1	0	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1082672G>A	ENST00000441003.2	+	15	1948	c.1921G>A	c.(1921-1923)Gcc>Acc	p.A641T	MUC2_ENST00000359061.5_Missense_Mutation_p.A641T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	641						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCCTGCACCGCCAAGGGCGT	0.642													A	1082672	G	A	1082672	3	1	364	1	0	0	0	0	1	0	0	0	10051	1087	38	1	1979	1	MUC2	11	1082672	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5025	1082672	133923844	8294	31796											
MUC2	4583	broad.mit.edu	37	chr11	1083767	1083767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggccccaaagatccacatgGactgcagcaacctgactgca	12	5	9	15	1	0	2	0	1	0	1	1	3	1	3	4	2	4	3	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1083767G>A	ENST00000441003.2	+	18	2326	c.2299G>A	c.(2299-2301)Gac>Aac	p.D767N	MUC2_ENST00000359061.5_Missense_Mutation_p.D767N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	767						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GATCCACATGGACTGCAGCAA	0.701													A	1083767	G	A	1083767	3	1	364	1	0	0	0	0	1	0	0	0	10051	1174	41	2	2369	2	MUC2	11	1083767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1095	1083767	133922749	8295	31797											
MUC2	4583	broad.mit.edu	37	chr11	1090362	1090362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccaactcctcccaagtcGtctgcaggccggaggaaggt	9	7	12	13	2	1	0	0	0	1	0	4	2	3	2	4	4	3	2	4	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1090362G>A	ENST00000441003.2	+	27	3685	c.3658G>A	c.(3658-3660)Gtc>Atc	p.V1220I	MUC2_ENST00000359061.5_Intron	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1220						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CTCCCAAGTCGTCTGCAGGCC	0.657													A	1090362	G	A	1090362	3	1	364	1	0	0	0	0	1	0	0	0	10051	1145	40	1	3764	1	MUC2	11	1090362	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6595	1090362	133916154	8296	31798											
MUC2	4583	broad.mit.edu	37	chr11	1099269	1099269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgcagaagagcccacGtgcaaatccaggtatgttgt	10	8	12	11	1	0	2	0	0	0	2	1	2	1	2	3	2	3	4	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1099269G>A	ENST00000441003.2	+	38	7275	c.7248G>A	c.(7246-7248)acG>acA	p.T2416T		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4778						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AAGAGCCCACGTGCAAATCCA	0.617													A	1099269	G	A	1099269	2	1	364	1	0	0	0	0	0	0	0	1	10051	1132	40	1		1	MUC2	11	1099269	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8907	1099269	133907247	8297	31799											
MUC5B	727897	broad.mit.edu	37	chr11	1268914	1268914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacctactccaacatcCgtgcggccggaggggcagtc	8	7	12	14	3	0	1	0	1	0	0	3	2	2	2	4	4	3	1	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1268914C>T	ENST00000447027.1	+	31	10871	c.10813C>T	c.(10813-10815)Cgt>Tgt	p.R3605C	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.R3602C			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3602	7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCCAACATCCGTGCGGCCGG	0.692													T	1268914	C	T	1268914	3	4	364	1	0	0	0	0	1	0	0	0	10055	652	23	1	10935	1	MUC5B	11	1268914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169645	1268914	133737602	8298	31800											
MUC5B	727897	broad.mit.edu	37	chr11	1269149	1269149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccccggccaccagctctaCggccacgccctcctcaactc	7	5	6	23	3	2	0	1	0	1	0	4	0	3	0	7	2	3	1	7	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1269149C>T	ENST00000447027.1	+	31	11106	c.11048C>T	c.(11047-11049)aCg>aTg	p.T3683M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3680M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3680	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACCAGCTCTACGGCCACGCCC	0.607													T	1269149	C	T	1269149	3	4	364	1	0	0	0	0	1	0	0	0	10055	536	19	1	11170	1	MUC5B	11	1269149	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235	1269149	133737367	8299	31801											
MUC5B	727897	broad.mit.edu	37	chr11	1271361	1271361	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcctccaccccagggacCacctggatcctcacagagct	8	6	8	19	1	1	1	1	0	0	1	4	3	4	3	8	2	1	1	8	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271361C>A	ENST00000447027.1	+	31	13318	c.13260C>A	c.(13258-13260)acC>acA	p.T4420T	MUC5B_ENST00000529681.1_Silent_p.T4417T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4417	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCCAGGGACCACCTGGATCC	0.657													A	1271361	C	A	1271361	2	1	364	1	0	0	0	0	0	0	0	1	10055	581	21	4		4	MUC5B	11	1271361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2212	1271361	133735155	8300	31802											
MUC5B	727897	broad.mit.edu	37	chr11	1271537	1271537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctccacccaggcaactgCtggcaccccacatgtgagca	9	6	8	18	0	0	1	0	1	0	0	2	1	2	1	5	2	3	4	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1271537C>T	ENST00000447027.1	+	31	13494	c.13436C>T	c.(13435-13437)gCt>gTt	p.A4479V	MUC5B_ENST00000529681.1_Missense_Mutation_p.A4476V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4476	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGGCAACTGCTGGCACCCCA	0.657													T	1271537	C	T	1271537	3	4	364	1	0	0	0	0	1	0	0	0	10055	797	28	2	13558	2	MUC5B	11	1271537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176	1271537	133734979	8301	31803											
MUC5B	727897	broad.mit.edu	37	chr11	1272808	1272808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttcccagctcgtccaccGtggggaccacccgcacccct	5	6	10	20	4	0	0	0	0	0	0	3	1	2	1	7	3	1	3	7	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1272808G>A	ENST00000447027.1	+	31	14765	c.14707G>A	c.(14707-14709)Gtg>Atg	p.V4903M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V4900M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4900	Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTCGTCCACCGTGGGGACCAC	0.652													A	1272808	G	A	1272808	3	1	364	1	0	0	0	0	1	0	0	0	10055	1145	40	1	14829	1	MUC5B	11	1272808	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1271	1272808	133733708	8302	31804											
MUC5B	727897	broad.mit.edu	37	chr11	1275507	1275507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgcccgctgcccccgcGccctcagcatccactacaag	6	5	8	22	4	1	0	1	0	0	0	2	0	2	0	6	0	4	2	6	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1275507G>A	ENST00000447027.1	+	34	15470	c.15412G>A	c.(15412-15414)Gcc>Acc	p.A5138T	MUC5B_ENST00000529681.1_Missense_Mutation_p.A5135T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5135	VWFD 4.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CTGCCCCCGCGCCCTCAGCAT	0.622													A	1275507	G	A	1275507	3	1	364	1	0	0	0	0	1	0	0	0	10055	1087	38	1	15546	1	MUC5B	11	1275507	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2699	1275507	133731009	8303	31805											
MUC5B	727897	broad.mit.edu	37	chr11	1279402	1279402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtccatctgcacccaggaGgagggcgactgctgtcccac	8	6	13	14	1	1	0	0	0	1	0	3	4	3	2	3	3	2	2	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1279402G>A	ENST00000447027.1	+	42	16591	c.16533G>A	c.(16531-16533)gaG>gaA	p.E5511E	MUC5B_ENST00000529681.1_Silent_p.E5508E			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5508					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCACCCAGGAGGAGGGCGACT	0.697													A	1279402	G	A	1279402	2	1	364	1	0	0	0	0	0	0	0	1	10055	991	35	2		2	MUC5B	11	1279402	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3895	1279402	133727114	8304	31806											
MUC5B	727897	broad.mit.edu	37	chr11	1281235	1281235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtggacaactgcaccGtgtacctctgtgaggctgag	8	9	13	11	1	1	2	0	2	1	0	1	3	1	3	3	2	3	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1281235G>A	ENST00000447027.1	+	46	16910	c.16852G>A	c.(16852-16854)Gtg>Atg	p.V5618M	MUC5B_ENST00000529681.1_Missense_Mutation_p.V5615M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	5615					cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAACTGCACCGTGTACCTCTG	0.577													A	1281235	G	A	1281235	3	1	364	1	0	0	0	0	1	0	0	0	10055	1145	40	1	17034	1	MUC5B	11	1281235	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1833	1281235	133725281	8305	31807											
BRSK2	9024	broad.mit.edu	37	chr11	1464847	1464847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggcatgatcgaggtggaCgccgcacgccgcctcacggt	6	5	16	14	7	1	1	1	1	0	0	2	3	1	2	3	5	0	2	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1464847C>T	ENST00000308219.9	+	8	1148	c.762C>T	c.(760-762)gaC>gaT	p.D254D	BRSK2_ENST00000382179.1_Silent_p.D300D|BRSK2_ENST00000544817.1_5'UTR|BRSK2_ENST00000528710.1_Silent_p.D194D|BRSK2_ENST00000308230.5_Silent_p.D254D|BRSK2_ENST00000528841.1_Silent_p.D254D|BRSK2_ENST00000531197.1_Silent_p.D254D|BRSK2_ENST00000526678.1_Silent_p.D254D	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	254	Protein kinase.				establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TCGAGGTGGACGCCGCACGCC	0.711													T	1464847	C	T	1464847	2	4	364	1	0	0	0	0	0	0	0	1	1533	535	19	1		1	BRSK2	11	1464847	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183612	1464847	133541669	8306	31808											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1605655	1605655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaatcagatcttgcaCtggcagcacacggggacaca	13	5	11	12	1	2	2	1	0	1	2	2	3	2	3	1	3	2	3	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1605655C>T	ENST00000382171.2	-	1	858	c.825G>A	c.(823-825)caG>caA	p.Q275Q	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	275						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)		AGATCTTGCACTGGCAGCACA	0.582													T	1605655	C	T	1605655	2	4	364	1	0	0	0	0	0	0	0	1	8617	564	20	2		2	KRTAP5-1	11	1605655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140808	1605655	133400861	8307	31809											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619040	1619040	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagcacacggggacacaGcagctggactggcagcagca	11	3	15	12	1	0	0	0	0	0	0	0	2	0	2	0	5	5	7	0	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1619040G>T	ENST00000412090.1	-	1	484	c.441C>A	c.(439-441)tgC>tgA	p.C147*	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	147	6 X 4 AA repeats of C-C-X-P.					keratin filament				large_intestine(1)|lung(2)|skin(1)	4		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)		CGGGGACACAGCAGCTGGACT	0.607													T	1619040	G	T	1619040	4	4	364	1	0	0	0	0	0	1	0	0	8620	963	34	4	96	4	KRTAP5-2	11	1619040	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13385	1619040	133387476	8308	31810											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643315	1643315	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctccagagcagccacaGcagcccatggttctggtgga	9	6	12	14	0	1	1	0	0	1	1	2	2	2	2	4	3	5	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1643315G>T	ENST00000399682.1	-	1	53	c.9C>A	c.(7-9)tgC>tgA	p.C3*		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	3						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AGCAGCCACAGCAGCCCATGG	0.667													T	1643315	G	T	1643315	4	4	364	1	0	0	0	0	0	1	0	0	8622	963	34	4	681	4	KRTAP5-4	11	1643315	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24275	1643315	133363201	8309	31811											
KRTAP5-5	439915	broad.mit.edu	37	chr11	1651250	1651250	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgggggatgtggctcCggctgctgtgtgcctgtctg	1	12	19	9	1	1	0	0	0	1	0	2	1	2	1	2	5	2	4	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1651250C>G	ENST00000399676.2	+	1	218	c.180C>G	c.(178-180)tcC>tcG	p.S60S		NM_001001480.2	NP_001001480.2	Q701N2	KRA55_HUMAN	keratin associated protein 5-5	60						keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|urinary_tract(1)	33		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		gatgtggctccggctgCTGTG	0.682													G	1651250	C	G	1651250	2	3	364	1	0	0	0	0	0	0	0	1	8623	639	23	4		4	KRTAP5-5	11	1651250	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7935	1651250	133355266	8310	31812											
SYT8	90019	broad.mit.edu	37	chr11	1857227	1857227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaggtgaagggccccGctgcgcaggaccagcggttc	7	4	17	13	3	0	1	0	1	0	0	1	3	0	3	4	5	2	3	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1857227G>A	ENST00000535046.1	+	4	826	c.826G>A	c.(826-828)Gct>Act	p.A276T	SYT8_ENST00000341958.3_Intron|SYT8_ENST00000436964.2_Missense_Mutation_p.A124T|SYT8_ENST00000381968.3_Intron|SYT8_ENST00000483280.1_3'UTR			Q8NBV8	SYT8_HUMAN	synaptotagmin VIII	0	C2 2.					acrosomal vesicle|integral to membrane|plasma membrane|synaptic vesicle	transporter activity			breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GAAGGGCCCCGCTGCGCAGGA	0.672													A	1857227	G	A	1857227	3	1	364	1	0	0	0	0	1	0	0	0	15577	1102	38	1		1	SYT8	11	1857227	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205977	1857227	133149289	8311	31813											
TNNT3	7140	broad.mit.edu	37	chr11	1950364	1950364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaagacaccgcagaggagGacgcggaaggtaagggcccg	12	2	18	9	4	0	2	0	0	0	2	0	6	0	6	2	6	0	2	2	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:1950364G>T	ENST00000278317.6	+	7	316	c.97G>T	c.(97-99)Gac>Tac	p.D33Y	TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381561.4_Intron|TNNT3_ENST00000381579.3_Intron|TNNT3_ENST00000381558.1_Intron|TNNT3_ENST00000397301.1_Missense_Mutation_p.D44Y|TNNT3_ENST00000381548.3_Missense_Mutation_p.D35Y|TNNT3_ENST00000381549.3_Intron|TNNT3_ENST00000381589.3_Intron|TNNT3_ENST00000360603.3_Intron|TNNT3_ENST00000446240.1_Intron	NM_006757.3	NP_006748.1	P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	44					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		CGCAGAGGAGGACGCGGAAGG	0.667													T	1950364	G	T	1950364	3	4	364	1	0	0	0	0	1	0	0	0	16432	1174	41	4	160	4	TNNT3	11	1950364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93137	1950364	133056152	8312	31814											
IGF2	3481	broad.mit.edu	37	chr11	2154381	2154381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcaggcaggcccctgcGcaggcgctgggtggactgct	5	5	19	12	2	0	0	0	0	0	0	0	2	0	1	2	6	2	5	2	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2154381G>A	ENST00000416167.2	-	4	1545	c.379C>T	c.(379-381)Cgc>Tgc	p.R127C	IGF2_ENST00000300632.5_Missense_Mutation_p.R127C|IGF2_ENST00000418738.2_Missense_Mutation_p.R127C|IGF2_ENST00000381395.1_Missense_Mutation_p.R127C|IGF2_ENST00000381406.4_Missense_Mutation_p.R130C|IGF2_ENST00000434045.2_Missense_Mutation_p.R183C|IGF2_ENST00000381389.1_Missense_Mutation_p.R127C|IGF2_ENST00000381392.1_Missense_Mutation_p.R130C			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	127					glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		AGGCCCCTGCGCAGGCGCTGG	0.662													A	2154381	G	A	2154381	3	1	364	1	0	0	0	0	1	0	0	0	7630	1087	38	1	167	1	IGF2	11	2154381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204017	2154381	132852135	8313	31815											
IGF2	3481	broad.mit.edu	37	chr11	2161436	2161436	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaaaatatctggataaTggttaccccgtcctcagtgc	11	10	7	13	1	2	0	1	0	1	0	3	1	3	1	4	2	2	1	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2161436T>C	ENST00000434045.2	-	2	475	c.91A>G	c.(91-93)Att>Gtt	p.I31V	IGF2_ENST00000300632.5_Intron|IGF2_ENST00000381389.1_Intron	NM_001127598.1	NP_001121070.1	P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	0	B.				glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		ATCTGGATAATGGTTACCCCG	0.577													C	2161436	T	C	2161436	3	2	364	1	0	0	0	0	1	0	0	0	7630	1464	51	3	635	3	IGF2	11	2161436	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7055	2161436	132845080	8314	31816											
TH	7054	broad.mit.edu	37	chr11	2185527	2185527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggacaccctccagggagCgccgcacggcctgggggctg	5	4	16	16	3	0	0	0	0	0	0	1	2	1	2	5	5	1	2	5	5	0	0	rs78426052		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2185527C>T	ENST00000381178.1	-	14	1541	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	TH_ENST00000381175.1_Missense_Mutation_p.R504H|TH_ENST00000352909.3_Missense_Mutation_p.R477H|TH_ENST00000333684.5_Missense_Mutation_p.R387H	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	508					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CTCCAGGGAGCGCCGCACGGC	0.672													T	2185527	C	T	2185527	3	4	364	1	0	0	0	0	1	0	0	0	15938	768	27	1	67	1	TH	11	2185527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24091	2185527	132820989	8315	31817											
TSPAN32	10077	broad.mit.edu	37	chr11	2324157	2324157	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgccgagcgtccctggaGaagaacccgtaccaggctgt	9	6	12	14	4	0	2	0	0	0	2	2	4	2	2	5	2	3	2	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2324157G>T	ENST00000182290.4	+	2	287	c.150G>T	c.(148-150)gaG>gaT	p.E50D	TSPAN32_ENST00000451520.2_Missense_Mutation_p.E39D|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.E50D	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	50					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		CGTCCCTGGAGAAGAACCCGT	0.642													T	2324157	G	T	2324157	3	4	364	1	0	0	0	0	1	0	0	0	16748	933	33	4	156	4	TSPAN32	11	2324157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138630	2324157	132682359	8316	31818											
TSPAN32	10077	broad.mit.edu	37	chr11	2334930	2334930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacctggtatatgagcaggCgatgaaaggtacgtcccacg	11	7	13	10	4	0	2	0	2	0	0	1	4	1	2	2	3	2	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2334930C>T	ENST00000182290.4	+	5	538	c.401C>T	c.(400-402)gCg>gTg	p.A134V	TSPAN32_ENST00000451520.2_Missense_Mutation_p.A123V|TSPAN32_ENST00000483227.1_3'UTR|TSPAN32_ENST00000381121.3_Missense_Mutation_p.A134V	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	134					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TATGAGCAGGCGATGAAAGGT	0.662													T	2334930	C	T	2334930	3	4	364	1	0	0	0	0	1	0	0	0	16748	768	27	1	419	1	TSPAN32	11	2334930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10773	2334930	132671586	8317	31819											
CD81	975	broad.mit.edu	37	chr11	2411695	2411695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctccgccatgacccgcaGaccaccaacctcctgtatct	8	8	7	18	2	1	2	0	1	1	1	3	2	3	2	7	1	1	3	7	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2411695G>T	ENST00000263645.5	+	2	376	c.120G>T	c.(118-120)caG>caT	p.Q40H	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_5'UTR|CD81_ENST00000492627.1_5'UTR|CD81_ENST00000381036.3_Missense_Mutation_p.Q78H	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	40					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATGACCCGCAGACCACCAACC	0.617													T	2411695	G	T	2411695	3	4	364	1	0	0	0	0	1	0	0	0	3069	933	33	4	126	4	CD81	11	2411695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76765	2411695	132594821	8318	31820											
TRPM5	29850	broad.mit.edu	37	chr11	2427272	2427272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactccagacacttgatgcGcttttcttgctctctcagac	7	14	7	13	1	3	4	1	2	2	2	5	4	4	4	1	0	2	2	1	0	0	4	rs142372288	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2427272G>A	ENST00000452833.1	-	22	3315	c.3307C>T	c.(3307-3309)Cgc>Tgc	p.R1103C	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000533060.1_Missense_Mutation_p.R1109C|TRPM5_ENST00000528453.1_Missense_Mutation_p.R1101C|TRPM5_ENST00000155858.6_Missense_Mutation_p.R1101C			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	1101						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACTTGATGCGCTTTTCTTGC	0.637													A	2427272	G	A	2427272	3	1	364	1	0	0	0	0	1	0	0	0	16690	1087	38	1	208	1	TRPM5	11	2427272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15577	2427272	132579244	8319	31821											
SLC22A18	5002	broad.mit.edu	37	chr11	2937892	2937892	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgccctggccaccctcCtgggagctgtcctcagcttc	3	10	11	17	0	1	0	1	0	0	0	4	1	3	1	5	3	3	3	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2937892C>A	ENST00000380574.1	+	6	1008	c.577C>A	c.(577-579)Ctg>Atg	p.L193M	SLC22A18_ENST00000449793.2_Missense_Mutation_p.L95M|SLC22A18_ENST00000347936.2_Missense_Mutation_p.L193M|SLC22A18_ENST00000312221.5_Missense_Mutation_p.L193M			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	193					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGCCACCCTCCTGGGAGCTGT	0.697													A	2937892	C	A	2937892	3	1	364	1	0	0	0	0	1	0	0	0	14543	680	24	4	595	4	SLC22A18	11	2937892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	510620	2937892	132068624	8320	31822											
NAP1L4	4676	broad.mit.edu	37	chr11	2981014	2981014	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacccgtcacagtccacAatctcaggaccttcaaagga	12	9	6	14	1	4	0	3	0	2	0	6	2	5	2	3	2	1	0	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:2981014A>C	ENST00000380542.4	-	9	872	c.732T>G	c.(730-732)atT>atG	p.I244M	NAP1L4_ENST00000526115.1_Missense_Mutation_p.I244M	NM_005969.3	NP_005960.1	Q99733	NP1L4_HUMAN	nucleosome assembly protein 1-like 4	244					nucleosome assembly	chromatin assembly complex|cytoplasm	unfolded protein binding			endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)	13		all_epithelial(84;0.000236)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00301)|LUSC - Lung squamous cell carcinoma(625;0.211)		CACAGTCCACAATCTCAGGAC	0.373													C	2981014	A	C	2981014	3	2	364	1	0	0	0	0	1	0	0	0	10235	126	5	5	423	5	NAP1L4	11	2981014	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43122	2981014	132025502	8321	31823											
ART5	116969	broad.mit.edu	37	chr11	3660958	3660958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctccatcctgagagaatCtggtaaccaaaaagacttca	14	8	9	10	0	2	3	1	1	1	2	4	4	4	3	3	2	1	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3660958C>A	ENST00000397068.3	-	2	1093	c.701G>T	c.(700-702)aGa>aTa	p.R234I	ART5_ENST00000397067.3_Intron|ART5_ENST00000359918.4_Missense_Mutation_p.R234I	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	234						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		CTGAGAGAATCTGGTAACCAA	0.512													A	3660958	C	A	3660958	3	1	364	1	0	0	0	0	1	0	0	0	1005	913	32	4	186	4	ART5	11	3660958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	679944	3660958	131345558	8322	31824											
ART1	417	broad.mit.edu	37	chr11	3681427	3681427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcatctggacctgccttggGgcccctatcaagggctactc	6	9	12	14	0	2	0	1	0	1	0	3	1	2	1	4	5	2	2	4	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681427G>A	ENST00000250693.1	+	3	779	c.678G>A	c.(676-678)ggG>ggA	p.G226G		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	226					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCTGCCTTGGGGCCCCTATCA	0.597													A	3681427	G	A	3681427	2	1	364	1	0	0	0	0	0	0	0	1	1002	1219	43	2		2	ART1	11	3681427	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20469	3681427	131325089	8323	31825											
ART1	417	broad.mit.edu	37	chr11	3681528	3681528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccagcagactggcccaggGccccgcccgcatctacctcc	6	5	10	20	2	1	1	0	0	1	1	2	1	2	1	7	2	3	2	7	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3681528G>A	ENST00000250693.1	+	3	880	c.779G>A	c.(778-780)gGc>gAc	p.G260D		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	260					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CTGGCCCAGGGCCCCGCCCGC	0.612													A	3681528	G	A	3681528	3	1	364	1	0	0	0	0	1	0	0	0	1002	1203	42	2	785	2	ART1	11	3681528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101	3681528	131324988	8324	31826											
NUP98	4928	broad.mit.edu	37	chr11	3697536	3697536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagggtctggtgttgagtcGgaggttctatcaggaggatg	7	12	18	4	1	3	2	1	2	2	0	4	5	3	5	0	6	0	2	0	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3697536G>A	ENST00000324932.7	-	33	5676	c.5256C>T	c.(5254-5256)tcC>tcT	p.S1752S	NUP98_ENST00000355260.3_Silent_p.S1678S|NUP98_ENST00000359171.4_3'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1769					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GTGTTGAGTCGGAGGTTCTAT	0.562			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								A	3697536	G	A	3697536	2	1	364	1	0	0	0	0	0	0	0	1	10849	1103	39	1		1	NUP98	11	3697536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16008	3697536	131308980	8325	31827											
NUP98	4928	broad.mit.edu	37	chr11	3704480	3704480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagcggttccagtgctcaGccttaaataagcaaagggcc	11	7	12	11	1	1	0	1	0	0	0	2	0	2	0	3	3	4	4	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3704480G>A	ENST00000324932.7	-	30	5288	c.4868C>T	c.(4867-4869)gCt>gTt	p.A1623V	NUP98_ENST00000355260.3_Missense_Mutation_p.A1549V|NUP98_ENST00000359171.4_Missense_Mutation_p.A1549V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1640					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CCAGTGCTCAGCCTTAAATAA	0.527			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								A	3704480	G	A	3704480	3	1	364	1	0	0	0	0	1	0	0	0	10849	971	34	2	550	2	NUP98	11	3704480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6944	3704480	131302036	8326	31828											
NUP98	4928	broad.mit.edu	37	chr11	3720329	3720329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgactgctgggccagaGagcaggcctcactgatcctt	8	8	11	14	0	1	3	1	2	0	1	2	4	2	3	4	2	2	2	4	2	0	1	rs144357388		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3720329G>T	ENST00000324932.7	-	25	4412	c.3992C>A	c.(3991-3993)tCt>tAt	p.S1331Y	NUP98_ENST00000355260.3_Missense_Mutation_p.S1331Y|NUP98_ENST00000359171.4_Missense_Mutation_p.S1331Y	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1348					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		CTGGGCCAGAGAGCAGGCCTC	0.542			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								T	3720329	G	T	3720329	3	4	364	1	0	0	0	0	1	0	0	0	10849	942	33	4	1446	4	NUP98	11	3720329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15849	3720329	131286187	8327	31829											
NUP98	4928	broad.mit.edu	37	chr11	3789871	3789871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggaaaagccagtgttCtgggtggttgtagcctggcc	9	9	14	9	0	1	0	0	0	1	0	1	1	1	1	4	4	2	3	4	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3789871C>A	ENST00000324932.7	-	8	1308	c.888G>T	c.(886-888)caG>caT	p.Q296H	NUP98_ENST00000397004.4_Missense_Mutation_p.Q296H|NUP98_ENST00000355260.3_Missense_Mutation_p.Q296H|NUP98_ENST00000397007.4_Missense_Mutation_p.Q296H|NUP98_ENST00000359171.4_Missense_Mutation_p.Q296H	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	296	Gly/Thr-rich.				carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGCCAGTGTTCTGGGTGGTTG	0.473			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								A	3789871	C	A	3789871	3	1	364	1	0	0	0	0	1	0	0	0	10849	912	32	4	4690	4	NUP98	11	3789871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69542	3789871	131216645	8328	31830											
STIM1	6786	broad.mit.edu	37	chr11	3988848	3988848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcagcttcgaggcagtccGtaacatccacaaactgatgg	12	8	9	12	2	1	1	1	1	0	0	4	2	3	1	2	2	3	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:3988848G>A	ENST00000300737.4	+	2	775	c.206G>A	c.(205-207)cGt>cAt	p.R69H	STIM1_ENST00000527651.1_Missense_Mutation_p.R69H	NM_003156.3	NP_003147.2	Q13586	STIM1_HUMAN	stromal interaction molecule 1	69	EF-hand.				activation of store-operated calcium channel activity|calcium ion transport|detection of calcium ion|platelet activation	integral to endoplasmic reticulum membrane|integral to plasma membrane|microtubule	calcium ion binding|microtubule plus-end binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|liver(1)|lung(14)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30		Breast(177;0.00159)|Medulloblastoma(188;0.00258)|all_neural(188;0.0233)		BRCA - Breast invasive adenocarcinoma(625;0.114)|LUSC - Lung squamous cell carcinoma(625;0.141)		GAGGCAGTCCGTAACATCCAC	0.458													A	3988848	G	A	3988848	3	1	364	1	0	0	0	0	1	0	0	0	15379	1145	40	1	212	1	STIM1	11	3988848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198977	3988848	131017668	8329	31831											
RRM1	6240	broad.mit.edu	37	chr11	4123242	4123242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggccgccaagaacgagtCatgtttgacaaaattacatc	14	9	9	9	2	1	2	1	1	0	1	2	4	1	2	2	1	2	1	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4123242C>T	ENST00000300738.5	+	2	243	c.39C>T	c.(37-39)gtC>gtT	p.V13V	RRM1_ENST00000423050.2_5'UTR	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	13	ATP-cone.|Allosteric activator binding (By similarity).				deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAGAACGAGTCATGTTTGACA	0.318													T	4123242	C	T	4123242	2	4	364	1	0	0	0	0	0	0	0	1	13772	813	29	2		2	RRM1	11	4123242	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134394	4123242	130883274	8330	31832											
RRM1	6240	broad.mit.edu	37	chr11	4148305	4148305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatcgccccattggaattgGggtacaaggtctggcagatg	9	9	13	10	1	1	1	0	0	1	1	2	2	1	2	3	5	1	2	3	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148305G>A	ENST00000300738.5	+	14	1715	c.1511G>A	c.(1510-1512)gGg>gAg	p.G504E	RRM1_ENST00000534285.1_Missense_Mutation_p.G282E|RRM1_ENST00000423050.2_Missense_Mutation_p.G407E|RRM1_ENST00000537197.1_Missense_Mutation_p.G166E	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	504					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	ATTGGAATTGGGGTACAAGGT	0.388													A	4148305	G	A	4148305	3	1	364	1	0	0	0	0	1	0	0	0	13772	1232	43	2	1565	2	RRM1	11	4148305	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25063	4148305	130858211	8331	31833											
RRM1	6240	broad.mit.edu	37	chr11	4148393	4148393	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgaataagcagatctttgaAactatttattatggtgctct	12	16	7	6	0	2	3	0	2	2	1	2	3	2	3	0	1	3	2	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4148393A>C	ENST00000300738.5	+	14	1803	c.1599A>C	c.(1597-1599)gaA>gaC	p.E533D	RRM1_ENST00000534285.1_Missense_Mutation_p.E311D|RRM1_ENST00000423050.2_Missense_Mutation_p.E436D|RRM1_ENST00000537197.1_Missense_Mutation_p.E195D	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	533					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AGATCTTTGAAACTATTTATT	0.463													C	4148393	A	C	4148393	3	2	364	1	0	0	0	0	1	0	0	0	13772	11	1	5	1653	5	RRM1	11	4148393	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	88	4148393	130858123	8332	31834											
TRIM21	6737	broad.mit.edu	37	chr11	4411432	4411432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgttcaccatgttggCtagctgtcgattgggccgga	7	12	14	8	2	1	0	1	0	0	0	2	2	1	1	2	4	1	5	2	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4411432C>T	ENST00000254436.7	-	2	320	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	TRIM21_ENST00000543625.1_Missense_Mutation_p.A70T	NM_003141.3	NP_003132.2	P19474	RO52_HUMAN	tripartite motif containing 21	70					cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein deubiquitination|positive regulation of cell cycle|protein autoubiquitination|protein destabilization|protein monoubiquitination|protein polyubiquitination|protein trimerization	cytoplasmic mRNA processing body|nucleus	DNA binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)	16		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;2.08e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0851)|LUSC - Lung squamous cell carcinoma(625;0.194)		ACCATGTTGGCTAGCTGTCGA	0.567													T	4411432	C	T	4411432	3	4	364	1	0	0	0	0	1	0	0	0	16596	797	28	2	1243	2	TRIM21	11	4411432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263039	4411432	130595084	8333	31835											
OR51D1	390038	broad.mit.edu	37	chr11	4661550	4661550	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccactgcccttcatcctcaAgtggttgtcctactgccaaa	8	11	6	16	0	2	0	2	0	0	0	4	0	4	0	5	1	3	1	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4661550A>G	ENST00000357605.2	+	1	606	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCATCCTCAAGTGGTTGTCC	0.502													G	4661550	A	G	4661550	3	3	364	1	0	0	0	0	1	0	0	0	11169	72	3	3	532	3	OR51D1	11	4661550	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	250118	4661550	130344966	8334	31836											
OR51E1	143503	broad.mit.edu	37	chr11	4674065	4674065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgcttgtctgctacaGatgtttgccatccactcctt	6	17	7	11	0	1	2	0	1	1	1	3	2	3	2	3	0	4	3	3	0	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4674065G>T	ENST00000396952.5	+	2	959	c.309G>T	c.(307-309)caG>caT	p.Q103H	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTCTGCTACAGATGTTTGCCA	0.517													T	4674065	G	T	4674065	3	4	364	1	0	0	0	0	1	0	0	0	11170	933	33	4	311	4	OR51E1	11	4674065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12515	4674065	130332451	8335	31837											
OR51E2	81285	broad.mit.edu	37	chr11	4703653	4703653	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaagaacatctgggtaaGacaggcctcaaagctaatct	17	8	8	8	0	3	2	1	0	2	2	3	2	3	2	1	2	2	2	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4703653G>T	ENST00000396950.3	-	2	528	c.289C>A	c.(289-291)Ctt>Att	p.L97I		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATCTGGGTAAGACAGGCCTCA	0.517													T	4703653	G	T	4703653	3	4	364	1	0	0	0	0	1	0	0	0	11171	942	33	4	677	4	OR51E2	11	4703653	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29588	4703653	130302863	8336	31838											
OR51F1	256892	broad.mit.edu	37	chr11	4790544	4790544	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtcaggatgagatcaattaAtccacagatgctatttgccc	12	11	9	9	0	2	2	2	1	0	2	3	4	3	3	2	2	2	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4790544A>C	ENST00000380383.1	-	1	624	c.625T>G	c.(625-627)Tta>Gta	p.L209V	MMP26_ENST00000380390.1_Intron|OR51F1_ENST00000343430.3_Missense_Mutation_p.L202V|MMP26_ENST00000477339.1_Intron			A6NLW9	A6NLW9_HUMAN	olfactory receptor, family 51, subfamily F, member 1	202						integral to membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.87e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0045)|LUSC - Lung squamous cell carcinoma(625;0.192)		AGATCAATTAATCCACAGATG	0.398													C	4790544	A	C	4790544	3	2	364	1	0	0	0	0	1	0	0	0	11172	98	4	5	337	5	OR51F1	11	4790544	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86891	4790544	130215972	8337	31839											
OR52R1	119695	broad.mit.edu	37	chr11	4825600	4825600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagagctgttccctgaaGccagcaccatggactggtta	11	8	12	10	0	0	3	0	1	0	2	1	5	1	4	3	2	3	4	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4825600G>A	ENST00000380382.1	-	1	247	c.248C>T	c.(247-249)gCt>gTt	p.A83V	MMP26_ENST00000380390.1_Intron|OR52R1_ENST00000356069.2_Missense_Mutation_p.A4V|MMP26_ENST00000477339.1_Intron			Q8NGF1	O52R1_HUMAN	olfactory receptor, family 52, subfamily R, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|prostate(1)|skin(3)	29		Medulloblastoma(188;0.0025)|Breast(177;0.0184)|all_neural(188;0.0227)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCCCTGAAGCCAGCACCAT	0.468													A	4825600	G	A	4825600	3	1	364	1	0	0	0	0	1	0	0	0	11207	971	34	2	939	2	OR52R1	11	4825600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35056	4825600	130180916	8338	31840											
OR51F2	119694	broad.mit.edu	37	chr11	4842974	4842974	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagatgttctttctacacgGatttactttcatggagtctg	8	16	8	9	1	4	1	1	0	3	1	4	3	4	3	1	2	2	1	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4842974G>T	ENST00000322110.5	+	1	424	c.359G>T	c.(358-360)gGa>gTa	p.G120V	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTTCTACACGGATTTACTTTC	0.468													T	4842974	G	T	4842974	3	4	364	1	0	0	0	0	1	0	0	0	11173	1174	41	4	361	4	OR51F2	11	4842974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17374	4842974	130163542	8339	31841											
OR51F2	119694	broad.mit.edu	37	chr11	4843361	4843361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcctcagaagagaggcGgaaagccttcaacacctgca	12	7	10	12	1	2	2	2	0	0	2	3	4	3	3	3	2	4	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4843361G>A	ENST00000322110.5	+	1	811	c.746G>A	c.(745-747)cGg>cAg	p.R249Q	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GAAGAGAGGCGGAAAGCCTTC	0.502													A	4843361	G	A	4843361	3	1	364	1	0	0	0	0	1	0	0	0	11173	1116	39	1	748	1	OR51F2	11	4843361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	387	4843361	130163155	8340	31842											
OR51T1	401665	broad.mit.edu	37	chr11	4904038	4904038	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaccaagacaatccgccaGgctatgttccagctgctcca	12	7	8	14	1	0	2	0	0	0	2	3	2	3	2	5	1	2	4	5	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4904038G>T	ENST00000380378.1	+	1	990	c.990G>T	c.(988-990)caG>caT	p.Q330H	MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.Q303H|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	303					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAATCCGCCAGGCTATGTTCC	0.483													T	4904038	G	T	4904038	3	4	364	1	0	0	0	0	1	0	0	0	11182	991	35	4	992	4	OR51T1	11	4904038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60677	4904038	130102478	8341	31843											
OR51G2	81282	broad.mit.edu	37	chr11	4936683	4936683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccaggtcaatcagagccaGcatggacaggaagagataca	16	4	11	10	0	2	2	2	0	0	2	2	5	2	4	2	3	3	1	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4936683G>T	ENST00000322013.3	-	1	239	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	71					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATCAGAGCCAGCATGGACAGG	0.478													T	4936683	G	T	4936683	3	4	364	1	0	0	0	0	1	0	0	0	11175	962	34	4	737	4	OR51G2	11	4936683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32645	4936683	130069833	8342	31844											
OR51A4	401666	broad.mit.edu	37	chr11	4967870	4967870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggaagaaccaggagcatgCtcttaaaggagaatactatc	16	7	11	7	0	1	2	0	0	1	2	2	5	1	4	1	3	4	2	1	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:4967870C>T	ENST00000380373.2	-	1	486	c.461G>A	c.(460-462)aGc>aAc	p.S154N	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005329.1	NP_001005329.1	Q8NGJ6	O51A4_HUMAN	olfactory receptor, family 51, subfamily A, member 4	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(15)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		CAGGAGCATGCTCTTAAAGGA	0.423													T	4967870	C	T	4967870	3	4	364	1	0	0	0	0	1	0	0	0	11163	797	28	2	482	2	OR51A4	11	4967870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31187	4967870	130038646	8343	31845											
OR52E2	119678	broad.mit.edu	37	chr11	5080059	5080059	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatagcggggcacatttcGgccaaagcgatgagtcataa	13	8	12	8	3	1	1	1	1	0	0	2	3	1	1	1	3	2	1	1	3	4	4	rs146178299		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080059G>A	ENST00000321522.2	-	1	798	c.799C>T	c.(799-801)Cga>Tga	p.R267*		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		GGCACATTTCGGCCAAAGCGA	0.473													A	5080059	G	A	5080059	4	1	364	1	0	0	0	0	0	1	0	0	11191	1124	39	1	181	1	OR52E2	11	5080059	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112189	5080059	129926457	8344	31846											
OR52E2	119678	broad.mit.edu	37	chr11	5080122	5080122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcaaggattacacacaCatgtgaaccacatgtgctga	15	7	10	9	0	0	2	0	2	0	0	0	4	0	3	1	2	3	2	1	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5080122C>T	ENST00000321522.2	-	1	735	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		ATTACACACACATGTGAACCA	0.463													T	5080122	C	T	5080122	3	4	364	1	0	0	0	0	1	0	0	0	11191	478	17	2	244	2	OR52E2	11	5080122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63	5080122	129926394	8345	31847											
OR52A5	390054	broad.mit.edu	37	chr11	5153502	5153502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatacagatggccacatagCgatccagggccattgccaga	12	6	12	11	1	0	2	0	0	0	2	1	4	1	3	4	3	3	0	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5153502C>T	ENST00000307388.1	-	1	370	c.371G>A	c.(370-372)cGc>cAc	p.R124H		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	124					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GGCCACATAGCGATCCAGGGC	0.468													T	5153502	C	T	5153502	3	4	364	1	0	0	0	0	1	0	0	0	11186	768	27	1	582	1	OR52A5	11	5153502	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73380	5153502	129853014	8346	31848											
OR51B6	390058	broad.mit.edu	37	chr11	5373625	5373625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagcattaaaactaagcaGattcagagtggcatacttcg	15	11	8	7	1	1	2	1	0	0	2	2	2	1	2	0	1	4	3	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5373625G>T	ENST00000380219.1	+	1	888	c.888G>T	c.(886-888)caG>caT	p.Q296H	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAACTAAGCAGATTCAGAGTG	0.418													T	5373625	G	T	5373625	3	4	364	1	0	0	0	0	1	0	0	0	11168	933	33	4	890	4	OR51B6	11	5373625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220123	5373625	129632891	8347	31849											
OR51M1	390059	broad.mit.edu	37	chr11	5410781	5410781	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgtacatggttgccatCtcaggcaattgtttcattct	8	18	7	8	0	3	0	2	0	2	0	4	0	3	0	1	2	2	4	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5410781C>A	ENST00000328611.3	+	1	175	c.153C>A	c.(151-153)atC>atA	p.I51I	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	51						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTTGCCATCTCAGGCAATT	0.453													A	5410781	C	A	5410781	2	1	364	1	0	0	0	0	0	0	0	1	11179	903	32	4		4	OR51M1	11	5410781	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37156	5410781	129595735	8348	31850											
OR51I2	390064	broad.mit.edu	37	chr11	5474999	5474999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgcccgcaacatcacttTtgatgcctgtctaattcaga	11	12	6	12	1	3	2	2	1	1	1	3	2	3	2	2	0	3	1	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5474999T>C	ENST00000341449.2	+	1	362	c.281T>C	c.(280-282)tTt>tCt	p.F94S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AACATCACTTTTGATGCCTGT	0.468													C	5474999	T	C	5474999	3	2	364	1	0	0	0	0	1	0	0	0	11177	1841	64	3	283	3	OR51I2	11	5474999	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64218	5474999	129531517	8349	31851											
OR52D1	390066	broad.mit.edu	37	chr11	5510000	5510000	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttaacagggatcccaGggctggaggctgcccacttc	7	10	11	13	0	2	0	0	0	2	0	4	2	3	2	2	4	2	2	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5510000G>T	ENST00000322641.5	+	1	86	c.64G>T	c.(64-66)Ggg>Tgg	p.G22W	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGGATCCCAGGGCTGGAGGC	0.488													T	5510000	G	T	5510000	3	4	364	1	0	0	0	0	1	0	0	0	11190	1000	35	4	66	4	OR52D1	11	5510000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35001	5510000	129496516	8350	31852											
UBQLNL	143630	broad.mit.edu	37	chr11	5537069	5537069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctgcatcaattgttgCgtgtctagatgttctgaaat	8	17	9	7	1	4	2	1	1	3	1	4	2	4	2	0	0	3	4	0	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5537069C>T	ENST00000380184.1	-	1	866	c.603G>A	c.(601-603)acG>acA	p.T201T	HBG2_ENST00000380259.2_Intron	NM_145053.4	NP_659490.4	Q8IYU4	UBQLN_HUMAN	ubiquilin-like	201								p.T201T(1)		endometrium(1)|kidney(3)|large_intestine(9)|lung(13)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.136)		TCAATTGTTGCGTGTCTAGAT	0.483													T	5537069	C	T	5537069	2	4	364	1	0	0	0	0	0	0	0	1	17002	755	27	1		1	UBQLNL	11	5537069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27069	5537069	129469447	8351	31853											
TRIM5	85363	broad.mit.edu	37	chr11	5688922	5688922	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcctcccacacataccttTttatgacgccatccacaccc	9	11	3	18	1	0	1	0	1	0	0	3	1	3	1	6	0	1	0	6	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5688922T>G	ENST00000396847.3	-	5	999	c.764A>C	c.(763-765)aAa>aCa	p.K255T	TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396855.3_Missense_Mutation_p.K255T|TRIM5_ENST00000380034.3_Missense_Mutation_p.K255T|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000380027.1_Missense_Mutation_p.K255T			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	255					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		CACATACCTTTTTATGACGCC	0.408													G	5688922	T	G	5688922	3	3	364	1	0	0	0	0	1	0	0	0	16626	1841	64	5	972	5	TRIM5	11	5688922	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151853	5688922	129317594	8352	31854											
TRIM22	10346	broad.mit.edu	37	chr11	5719631	5719631	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgaggagcagagagagctGcaaaagctggaggaaggtga	16	4	17	4	0	0	4	0	2	0	2	0	8	0	7	0	4	4	4	0	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5719631G>A	ENST00000379965.3	+	4	883	c.606G>A	c.(604-606)ctG>ctA	p.L202L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	202					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		AGAGAGAGCTGCAAAAGCTGG	0.488													A	5719631	G	A	5719631	2	1	364	1	0	0	0	0	0	0	0	1	16597	1306	46	2		2	TRIM22	11	5719631	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30709	5719631	129286885	8353	31855											
OR52E6	390078	broad.mit.edu	37	chr11	5862816	5862816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaagaaatggatgaaGaacatctgagaaaggtagcc	18	6	12	5	0	1	5	0	3	1	3	1	7	1	6	1	2	2	1	1	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5862816G>T	ENST00000329322.5	-	1	311	c.312C>A	c.(310-312)ttC>ttA	p.F104L	TRIM5_ENST00000380027.1_Intron|OR52E6_ENST00000379946.2_Missense_Mutation_p.F108L	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGGATGAAGAACATCTGAG	0.458													T	5862816	G	T	5862816	3	4	364	1	0	0	0	0	1	0	0	0	11193	933	33	4	631	4	OR52E6	11	5862816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143185	5862816	129143700	8354	31856											
OR52E4	390081	broad.mit.edu	37	chr11	5906257	5906257	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatacctgtggttctcaTgtctgtgttatgctgtgctt	5	19	9	8	0	3	0	2	0	2	0	4	0	3	0	1	1	3	4	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5906257T>C	ENST00000316987.2	+	1	757	c.735T>C	c.(733-735)caT>caC	p.H245H		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGTTCTCATGTCTGTGTTA	0.403													C	5906257	T	C	5906257	2	2	364	1	0	0	0	0	0	0	0	1	11192	1461	51	3		3	OR52E4	11	5906257	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43441	5906257	129100259	8355	31857											
OR56A3	390083	broad.mit.edu	37	chr11	5969408	5969408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtctcccctgatgtgccaGtcttgctcaatgttctccac	7	13	7	14	0	4	1	1	1	3	0	6	1	4	1	4	0	2	2	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:5969408G>A	ENST00000329564.6	+	1	839	c.832G>A	c.(832-834)Gtc>Atc	p.V278I		NM_001003443.2	NP_001003443.2	Q8NH54	O56A3_HUMAN	olfactory receptor, family 56, subfamily A, member 3	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(27)|stomach(1)|upper_aerodigestive_tract(1)	41		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;9.41e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGATGTGCCAGTCTTGCTCAA	0.483													A	5969408	G	A	5969408	3	1	364	1	0	0	0	0	1	0	0	0	11210	1029	36	2	834	2	OR56A3	11	5969408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63151	5969408	129037108	8356	31858											
OR56A4	120793	broad.mit.edu	37	chr11	6023843	6023843	+	Missense_Mutation	SNP	A	A	G																															tcaatggatggcagatggccAcataacggtcataggccatg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023843A>G	ENST00000330728.4	-	1	581	c.536T>C	c.(535-537)gTg>gCg	p.V179A		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGATGGCCACATAACGGTC	0.493													G	6023843	A	G	6023843	3	3	364	1	0	0	0	0	1	0	0	0	11211	159	6	3	563	3	OR56A4	11	6023843	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54435	6023843	128982673	8357	31859	77	2									
OR56A4	120793	broad.mit.edu	37	chr11	6023849	6023849	+	Missense_Mutation	SNP	C	C	T																															gatggcagatggccacataaCggtcataggccatgaccatg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6023849C>T	ENST00000330728.4	-	1	575	c.530G>A	c.(529-531)cGt>cAt	p.R177H		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCCACATAACGGTCATAGGC	0.502													T	6023849	C	T	6023849	3	4	364	1	0	0	0	0	1	0	0	0	11211	536	19	1	569	1	OR56A4	11	6023849	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6	6023849	128982667	8358	31860	77	2									
OR52B2	255725	broad.mit.edu	37	chr11	6190901	6190901	+	Missense_Mutation	SNP	G	G	T																															ctcggaggatcagtgagtaaGacacagcgatgaggataaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190901G>T	ENST00000530810.1	-	1	737	c.656C>A	c.(655-657)tCt>tAt	p.S219Y	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAGTAAGACACAGCGAT	0.517													T	6190901	G	T	6190901	3	4	364	1	0	0	0	0	1	0	0	0	11187	942	33	4	318	4	OR52B2	11	6190901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167052	6190901	128815615	8359	31861	78	2									
OR52B2	255725	broad.mit.edu	37	chr11	6190908	6190908	+	Missense_Mutation	SNP	C	C	T																															gatcagtgagtaagacacagCgatgaggataacatccaaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6190908C>T	ENST00000530810.1	-	1	730	c.649G>A	c.(649-651)Gct>Act	p.A217T	RP11-290F24.3_ENST00000529961.1_RNA	NM_001004052.1	NP_001004052.1	Q96RD2	O52B2_HUMAN	olfactory receptor, family 52, subfamily B, member 2	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(15)	21		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;3.69e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TAAGACACAGCGATGAGGATA	0.512													T	6190908	C	T	6190908	3	4	364	1	0	0	0	0	1	0	0	0	11187	768	27	1	325	1	OR52B2	11	6190908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7	6190908	128815608	8360	31862	78	2									
OR52W1	120787	broad.mit.edu	37	chr11	6221156	6221156	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctgtgctgcagctacctAcccgggaggcccatgccaag	8	7	12	14	1	0	0	0	0	0	0	0	1	0	1	4	2	7	4	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221156A>G	ENST00000311352.2	+	1	781	c.703A>G	c.(703-705)Acc>Gcc	p.T235A		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGCTACCTACCCGGGAGGC	0.517													G	6221156	A	G	6221156	3	3	364	1	0	0	0	0	1	0	0	0	11208	391	14	3	705	3	OR52W1	11	6221156	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30248	6221156	128785360	8361	31863											
OR52W1	120787	broad.mit.edu	37	chr11	6221305	6221305	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcacatccttctctccaaCatctacttgctgctgccacc	7	12	5	17	0	2	0	0	0	2	0	5	0	4	0	4	0	6	3	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6221305C>T	ENST00000311352.2	+	1	930	c.852C>T	c.(850-852)aaC>aaT	p.N284N		NM_001005178.1	NP_001005178.1	Q6IF63	O52W1_HUMAN	olfactory receptor, family 52, subfamily W, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(6)	11		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;2.13e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTCTCTCCAACATCTACTTGC	0.527													T	6221305	C	T	6221305	2	4	364	1	0	0	0	0	0	0	0	1	11208	477	17	2		2	OR52W1	11	6221305	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149	6221305	128785211	8362	31864											
C11orf42	160298	broad.mit.edu	37	chr11	6231582	6231582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctacttcggtcattacCtgttgccttctcctgcctca	4	14	7	16	2	3	0	2	0	1	0	5	0	3	0	5	2	4	2	5	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6231582C>T	ENST00000316375.2	+	2	625	c.575C>T	c.(574-576)cCt>cTt	p.P192L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	192										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGTCATTACCTGTTGCCTTC	0.567													T	6231582	C	T	6231582	3	4	364	1	0	0	0	0	1	0	0	0	1653	681	24	2	581	2	C11orf42	11	6231582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10277	6231582	128774934	8363	31865											
FAM160A2	84067	broad.mit.edu	37	chr11	6232933	6232933	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcaggggccccgccccGggtgagtagaactggagttg	6	7	17	11	3	1	2	1	1	0	1	1	3	1	3	4	4	1	3	4	4	2	3	rs139429864		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6232933G>C	ENST00000265978.4	-	12	3122	c.2764C>G	c.(2764-2766)Cgg>Ggg	p.R922G	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.R908G	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	908					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.R922W(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCCCCGCCCCGGGTGAGTAGA	0.597													C	6232933	G	C	6232933	3	2	364	1	0	0	0	0	1	0	0	0	5514	1115	39	4	200	4	FAM160A2	11	6232933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1351	6232933	128773583	8364	31866											
FAM160A2	84067	broad.mit.edu	37	chr11	6235765	6235765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagtcctcctgggaagcCgcaaagttctcaatcttatt	10	11	10	10	1	2	0	1	0	2	0	5	2	4	2	3	2	1	2	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6235765C>T	ENST00000265978.4	-	11	2833	c.2475G>A	c.(2473-2475)gcG>gcA	p.A825A	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Silent_p.A811A	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	811					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCTGGGAAGCCGCAAAGTTCT	0.532													T	6235765	C	T	6235765	2	4	364	1	0	0	0	0	0	0	0	1	5514	639	23	1		1	FAM160A2	11	6235765	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2832	6235765	128770751	8365	31867											
FAM160A2	84067	broad.mit.edu	37	chr11	6239802	6239802	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatacccgtgatgtcctccCttctccctgtctctctgcta	4	14	5	18	1	3	1	0	1	3	0	7	1	5	1	5	0	2	1	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6239802C>A	ENST00000265978.4	-	8	1821	c.1463G>T	c.(1462-1464)aGg>aTg	p.R488M	FAM160A2_ENST00000524416.1_Intron|FAM160A2_ENST00000449352.2_Intron	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	479					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GATGTCCTCCCTTCTCCCTGT	0.612													A	6239802	C	A	6239802	3	1	364	1	0	0	0	0	1	0	0	0	5514	681	24	4	1517	4	FAM160A2	11	6239802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4037	6239802	128766714	8366	31868											
CCKBR	887	broad.mit.edu	37	chr11	6281259	6281259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctcaacagcagcagtgTgggcaacctcagctgcgagc	9	7	11	14	1	3	0	2	0	1	0	4	1	3	0	2	1	7	4	2	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6281259T>C	ENST00000525462.1	+	1	104	c.101T>C	c.(100-102)gTg>gCg	p.V34A	CCKBR_ENST00000531712.1_Missense_Mutation_p.V34A|CCKBR_ENST00000334619.2_Missense_Mutation_p.V34A|CCKBR_ENST00000525014.1_Missense_Mutation_p.V34A|CCKBR_ENST00000532715.1_Missense_Mutation_p.V34A			P32239	GASR_HUMAN	cholecystokinin B receptor	34					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AGCAGCAGTGTGGGCAACCTC	0.682													C	6281259	T	C	6281259	3	2	364	1	0	0	0	0	1	0	0	0	2909	1696	59	3	103	3	CCKBR	11	6281259	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	41457	6281259	128725257	8367	31869											
CCKBR	887	broad.mit.edu	37	chr11	6291971	6291971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagctctacttagggcttcGctttgacggcgacagtgaca	8	10	12	11	4	1	2	0	2	1	0	2	4	1	2	0	2	2	3	0	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6291971G>A	ENST00000525462.1	+	4	752	c.749G>A	c.(748-750)cGc>cAc	p.R250H	CCKBR_ENST00000334619.2_Missense_Mutation_p.R250H|CCKBR_ENST00000532715.1_Missense_Mutation_p.R166H			P32239	GASR_HUMAN	cholecystokinin B receptor	208					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTAGGGCTTCGCTTTGACGGC	0.602													A	6291971	G	A	6291971	3	1	364	1	0	0	0	0	1	0	0	0	2909	1087	38	1	763	1	CCKBR	11	6291971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10712	6291971	128714545	8368	31870											
CCKBR	887	broad.mit.edu	37	chr11	6292066	6292066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtgagcaaaatctgggcGaggcggagctttggagggcg	9	6	18	8	4	1	1	0	1	1	0	1	4	1	3	0	5	2	2	0	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6292066G>A	ENST00000525462.1	+	4	847	c.844G>A	c.(844-846)Gag>Aag	p.E282K	CCKBR_ENST00000334619.2_Intron|CCKBR_ENST00000532396.1_Intron|CCKBR_ENST00000532715.1_Intron			P32239	GASR_HUMAN	cholecystokinin B receptor	242					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	AAATCTGGGCGAGGCGGAGCT	0.622													A	6292066	G	A	6292066	3	1	364	1	0	0	0	0	1	0	0	0	2909	1073	37	1		1	CCKBR	11	6292066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	6292066	128714450	8369	31871											
PRKCDBP	112464	broad.mit.edu	37	chr11	6340468	6340468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatcttcctcggtgtcctgCggaggctctggctccagcgt	3	11	14	13	3	2	0	0	0	2	0	6	2	5	2	3	5	2	2	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6340468C>T	ENST00000303927.3	-	2	881	c.711G>A	c.(709-711)ccG>ccA	p.P237P	PRKCDBP_ENST00000530979.1_Silent_p.P269P	NM_145040.2	NP_659477.2	Q969G5	PRDBP_HUMAN	protein kinase C, delta binding protein	237										large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CGGTGTCCTGCGGAGGCTCTG	0.692													T	6340468	C	T	6340468	2	4	364	1	0	0	0	0	0	0	0	1	12596	755	27	1		1	PRKCDBP	11	6340468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48402	6340468	128666048	8370	31872											
APBB1	322	broad.mit.edu	37	chr11	6417022	6417022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagtagcttaccatgcaCgcagcctgcacagcctctga	10	9	8	14	1	1	1	0	1	1	0	1	1	1	1	3	0	7	5	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6417022C>T	ENST00000389906.2	-	13	2058	c.1959G>A	c.(1957-1959)gcG>gcA	p.A653A	APBB1_ENST00000311051.3_Silent_p.A651A|APBB1_ENST00000609331.1_Silent_p.A418A|APBB1_ENST00000299402.6_Silent_p.A651A|APBB1_ENST00000529519.1_Silent_p.A178A|APBB1_ENST00000530885.1_Silent_p.A431A|APBB1_ENST00000608394.1_Silent_p.A394A|APBB1_ENST00000608655.1_Silent_p.A433A|APBB1_ENST00000608704.1_Silent_p.A394A|APBB1_ENST00000608645.1_Silent_p.A394A|APBB1_ENST00000526240.1_5'UTR|APBB1_ENST00000609360.1_Silent_p.A653A			O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	653	PID 2.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TTACCATGCACGCAGCCTGCA	0.627													T	6417022	C	T	6417022	2	4	364	1	0	0	0	0	0	0	0	1	761	523	19	1		1	APBB1	11	6417022	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76554	6417022	128589494	8371	31873											
APBB1	322	broad.mit.edu	37	chr11	6422859	6422859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttggcaggtgcctcacagCgaaacacgtggcacttgagc	9	8	12	12	2	2	1	1	1	1	0	2	2	2	1	1	3	4	2	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6422859C>T	ENST00000609360.1	-	10	1547	c.1448G>A	c.(1447-1449)cGc>cAc	p.R483H	APBB1_ENST00000311051.3_Missense_Mutation_p.R481H|APBB1_ENST00000299402.6_Missense_Mutation_p.R481H|APBB1_ENST00000608645.1_Missense_Mutation_p.R224H|APBB1_ENST00000609331.1_Missense_Mutation_p.R248H|APBB1_ENST00000608655.1_Missense_Mutation_p.R263H|APBB1_ENST00000529519.1_Missense_Mutation_p.R8H|APBB1_ENST00000608704.1_Missense_Mutation_p.R224H|APBB1_ENST00000608394.1_Missense_Mutation_p.R224H|APBB1_ENST00000530885.1_Missense_Mutation_p.R261H|APBB1_ENST00000389906.2_Missense_Mutation_p.R483H	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	p.R481L(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TGCCTCACAGCGAAACACGTG	0.577													T	6422859	C	T	6422859	3	4	364	1	0	0	0	0	1	0	0	0	761	768	27	1	708	1	APBB1	11	6422859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5837	6422859	128583657	8372	31874											
APBB1	322	broad.mit.edu	37	chr11	6423400	6423400	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctgtggctccactagctTtagtgtctcatcctccagct	5	14	8	14	0	2	0	1	0	2	0	6	0	5	0	3	1	2	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6423400T>C	ENST00000609360.1	-	8	1393	c.1294A>G	c.(1294-1296)Aag>Gag	p.K432E	APBB1_ENST00000311051.3_Missense_Mutation_p.K432E|APBB1_ENST00000299402.6_Missense_Mutation_p.K432E|APBB1_ENST00000608645.1_Missense_Mutation_p.K173E|APBB1_ENST00000609331.1_Missense_Mutation_p.K197E|APBB1_ENST00000608655.1_Missense_Mutation_p.K212E|APBB1_ENST00000529519.1_5'UTR|APBB1_ENST00000608704.1_Missense_Mutation_p.K173E|APBB1_ENST00000608394.1_Missense_Mutation_p.K173E|APBB1_ENST00000530885.1_Missense_Mutation_p.K212E|APBB1_ENST00000389906.2_Missense_Mutation_p.K432E	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		PID 1.				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		TCCACTAGCTTTAGTGTCTCA	0.607													C	6423400	T	C	6423400	3	2	364	1	0	0	0	0	1	0	0	0	761	1850	64	3	866	3	APBB1	11	6423400	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	541	6423400	128583116	8373	31875											
APBB1	322	broad.mit.edu	37	chr11	6432274	6432274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caagggtgccatctcaggctCctggctggcctcctccgcca	5	8	11	17	1	1	0	1	0	1	0	5	0	4	0	6	4	1	2	6	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432274C>T	ENST00000609360.1	-	2	403	c.304G>A	c.(304-306)Gag>Aag	p.E102K	APBB1_ENST00000311051.3_Missense_Mutation_p.E102K|APBB1_ENST00000299402.6_Missense_Mutation_p.E102K|APBB1_ENST00000389906.2_Missense_Mutation_p.E102K	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATCTCAGGCTCCTGGCTGGCC	0.637													T	6432274	C	T	6432274	3	4	364	1	0	0	0	0	1	0	0	0	761	864	30	2	1880	2	APBB1	11	6432274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8874	6432274	128574242	8374	31876											
APBB1	322	broad.mit.edu	37	chr11	6432549	6432549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctgttggcattaatggccGactggctcagtgatgatgga	8	11	15	7	1	1	2	1	2	0	0	1	4	1	3	1	5	0	4	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6432549G>A	ENST00000609360.1	-	2	128	c.29C>T	c.(28-30)tCg>tTg	p.S10L	APBB1_ENST00000311051.3_Missense_Mutation_p.S10L|APBB1_ENST00000299402.6_Missense_Mutation_p.S10L|APBB1_ENST00000389906.2_Missense_Mutation_p.S10L	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)						apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		ATTAATGGCCGACTGGCTCAG	0.617													A	6432549	G	A	6432549	3	1	364	1	0	0	0	0	1	0	0	0	761	1059	37	1	2155	1	APBB1	11	6432549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275	6432549	128573967	8375	31877											
HPX	3263	broad.mit.edu	37	chr11	6458289	6458289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcaccactgaaggcataGgtggcaccatggttgtcaga	10	9	11	11	0	2	2	2	1	1	1	3	2	2	2	2	4	0	3	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6458289G>A	ENST00000265983.3	-	7	922	c.822C>T	c.(820-822)acC>acT	p.T274T		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	274	Hemopexin-like 4.				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		TGAAGGCATAGGTGGCACCAT	0.517													A	6458289	G	A	6458289	2	1	364	1	0	0	0	0	0	0	0	1	7401	987	35	2		2	HPX	11	6458289	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25740	6458289	128548227	8376	31878											
HPX	3263	broad.mit.edu	37	chr11	6459619	6459619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacgccttcagcttgacattCtccacggtgacattccacag	9	10	8	14	2	2	2	1	2	1	0	4	3	3	2	3	1	1	1	3	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6459619C>T	ENST00000265983.3	-	5	557	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	153					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		GCTTGACATTCTCCACGGTGA	0.512													T	6459619	C	T	6459619	3	4	364	1	0	0	0	0	1	0	0	0	7401	922	32	2	955	2	HPX	11	6459619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1330	6459619	128546897	8377	31879											
TRIM3	10612	broad.mit.edu	37	chr11	6477399	6477399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacctttctcccttccaCgactgcctgtgggaagggac	7	11	9	14	1	2	0	1	0	1	0	4	3	3	2	4	2	1	0	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6477399C>T	ENST00000525074.1	-	7	1830	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	TRIM3_ENST00000359518.3_Missense_Mutation_p.R479H|TRIM3_ENST00000536344.1_Missense_Mutation_p.R360H|TRIM3_ENST00000345851.3_Missense_Mutation_p.R479H|TRIM3_ENST00000537602.1_Missense_Mutation_p.R401H|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	479					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCCCTTCCACGACTGCCTGT	0.532													T	6477399	C	T	6477399	3	4	364	1	0	0	0	0	1	0	0	0	16605	536	19	1	822	1	TRIM3	11	6477399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17780	6477399	128529117	8378	31880											
TRIM3	10612	broad.mit.edu	37	chr11	6478090	6478090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcattctcatgtggcCgctccgggaaggcctgtgcc	4	10	14	13	2	1	0	1	0	1	0	3	1	2	1	4	3	2	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6478090C>T	ENST00000525074.1	-	6	1260	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	TRIM3_ENST00000359518.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000536344.1_Missense_Mutation_p.R170Q|TRIM3_ENST00000345851.3_Missense_Mutation_p.R289Q|TRIM3_ENST00000537602.1_Intron|TRIM3_ENST00000529058.1_5'UTR	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	289					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCATGTGGCCGCTCCGGGAA	0.667													T	6478090	C	T	6478090	3	4	364	1	0	0	0	0	1	0	0	0	16605	652	23	1	1396	1	TRIM3	11	6478090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	691	6478090	128528426	8379	31881											
DNHD1	144132	broad.mit.edu	37	chr11	6524151	6524151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtggctcccagccggtaCtttaggtgatagcctatgtc	8	12	11	10	1	0	1	0	1	0	0	2	1	1	1	3	3	3	2	3	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6524151C>T	ENST00000254579.6	+	4	1479	c.915C>T	c.(913-915)taC>taT	p.Y305Y	DNHD1_ENST00000354685.3_Silent_p.Y305Y|DNHD1_ENST00000527990.2_Silent_p.Y305Y	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	305					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCAGCCGGTACTTTAGGTGAT	0.532													T	6524151	C	T	6524151	2	4	364	1	0	0	0	0	0	0	0	1	4707	576	20	2		2	DNHD1	11	6524151	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46061	6524151	128482365	8380	31882											
DNHD1	144132	broad.mit.edu	37	chr11	6541014	6541014	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttgcccgcctggttgactAcatgatttgtcagagcctca	7	13	10	11	1	2	3	2	2	0	1	2	3	2	3	3	1	3	2	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541014A>G	ENST00000254579.6	+	8	2141	c.1577A>G	c.(1576-1578)tAc>tGc	p.Y526C	DNHD1_ENST00000354685.3_Missense_Mutation_p.Y526C|DNHD1_ENST00000527990.2_Missense_Mutation_p.Y526C	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	526					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGGTTGACTACATGATTTGT	0.517													G	6541014	A	G	6541014	3	3	364	1	0	0	0	0	1	0	0	0	4707	391	14	3	1599	3	DNHD1	11	6541014	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16863	6541014	128465502	8381	31883											
DNHD1	144132	broad.mit.edu	37	chr11	6541320	6541320	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctacagtctgtcaagacCtctgccttgcaggtattctg	7	12	10	12	0	4	1	1	0	3	1	4	1	4	1	3	2	3	2	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6541320C>A	ENST00000254579.6	+	9	2337	c.1773C>A	c.(1771-1773)acC>acA	p.T591T	DNHD1_ENST00000354685.3_Silent_p.T591T|DNHD1_ENST00000527990.2_Silent_p.T591T	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	591					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CTGTCAAGACCTCTGCCTTGC	0.478													A	6541320	C	A	6541320	2	1	364	1	0	0	0	0	0	0	0	1	4707	668	24	4		4	DNHD1	11	6541320	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	306	6541320	128465196	8382	31884											
DNHD1	144132	broad.mit.edu	37	chr11	6587819	6587819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccatgttaccccaagtgCtaggttgtgaactgctaaag	10	11	9	11	0	0	1	0	1	0	0	1	1	1	1	3	1	4	4	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6587819C>T	ENST00000254579.6	+	35	11773	c.11209C>T	c.(11209-11211)Cta>Tta	p.L3737L	DNHD1_ENST00000527990.2_Silent_p.L3737L	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	3737					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		ACCCCAAGTGCTAGGTTGTGA	0.507													T	6587819	C	T	6587819	2	4	364	1	0	0	0	0	0	0	0	1	4707	796	28	2		2	DNHD1	11	6587819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46499	6587819	128418697	8383	31885											
TPP1	1200	broad.mit.edu	37	chr11	6640080	6640080	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccacattctgctgtctcagGgcaaaggtgagactcagctc	9	10	10	12	0	3	1	2	1	2	1	6	2	4	1	1	2	2	3	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640080G>A	ENST00000299427.6	-	3	216	c.156C>T	c.(154-156)gcC>gcT	p.A52A	TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	52					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		GCTGTCTCAGGGCAAAGGTGA	0.607													A	6640080	G	A	6640080	2	1	364	1	0	0	0	0	0	0	0	1	16512	1219	43	2		2	TPP1	11	6640080	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52261	6640080	128366436	8384	31886											
TPP1	1200	broad.mit.edu	37	chr11	6640146	6640146	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacacccagcctgggggcagCctgtagggtcaggggtcagg	7	5	18	11	0	2	0	2	0	0	0	2	1	2	0	3	6	2	2	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6640146C>T	ENST00000299427.6	-	3	150	c.90G>A	c.(88-90)acG>acA	p.T30T	TPP1_ENST00000534644.1_Intron|TPP1_ENST00000528657.1_3'UTR|RP11-732A19.9_ENST00000545572.1_RNA|TPP1_ENST00000533371.1_5'UTR	NM_000391.3	NP_000382.3	O14773	TPP1_HUMAN	tripeptidyl peptidase I	30					bone resorption|cell death|lipid metabolic process|lysosome organization|nervous system development|neuromuscular process controlling balance|peptide catabolic process|protein catabolic process|proteolysis	lysosome|melanosome|soluble fraction	metal ion binding|peptide binding|protein binding|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(9)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;3.45e-09)|BRCA - Breast invasive adenocarcinoma(625;0.131)		CTGGGGGCAGCCTGTAGGGTC	0.577													T	6640146	C	T	6640146	5	4	364	1	0	0	0	0	0	0	1	0	16512	753	26	2	1645	2	TPP1	11	6640146	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	6640146	128366370	8385	31887											
DCHS1	8642	broad.mit.edu	37	chr11	6643931	6643931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggtggactaggtggCtcccggcccagtttctgcag	5	9	17	10	1	1	0	0	0	1	0	2	2	2	1	2	6	1	3	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6643931C>T	ENST00000299441.3	-	21	9387	c.8976G>A	c.(8974-8976)gaG>gaA	p.E2992E		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2992					calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GACTAGGTGGCTCCCGGCCCA	0.642													T	6643931	C	T	6643931	2	4	364	1	0	0	0	0	0	0	0	1	4321	796	28	2		2	DCHS1	11	6643931	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3785	6643931	128362585	8386	31888											
DCHS1	8642	broad.mit.edu	37	chr11	6644437	6644437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggccacgccgggcaccttCgggcacttggaagtggaaag	8	6	16	11	3	0	0	0	0	0	0	1	2	0	2	3	5	0	2	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6644437C>T	ENST00000299441.3	-	21	8881	c.8470G>A	c.(8470-8472)Gaa>Aaa	p.E2824K		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2824	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CGGGCACCTTCGGGCACTTGG	0.587													T	6644437	C	T	6644437	3	4	364	1	0	0	0	0	1	0	0	0	4321	893	31	1	1430	1	DCHS1	11	6644437	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506	6644437	128362079	8387	31889											
DCHS1	8642	broad.mit.edu	37	chr11	6648773	6648773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcgtggcactgagagctgGctggcctccatcccgggcct	5	7	14	15	2	0	1	0	1	0	1	2	2	2	1	4	4	2	3	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6648773G>A	ENST00000299441.3	-	14	5908	c.5497C>T	c.(5497-5499)Cca>Tca	p.P1833S		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1833	Cadherin 17.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGAGAGCTGGCTGGCCTCCA	0.592													A	6648773	G	A	6648773	3	1	364	1	0	0	0	0	1	0	0	0	4321	1203	42	2	4431	2	DCHS1	11	6648773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4336	6648773	128357743	8388	31890											
DCHS1	8642	broad.mit.edu	37	chr11	6661869	6661869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaccagttcatggacccGccgctgctcaaagtccagtg	9	7	9	16	2	2	0	2	0	0	0	3	1	3	1	5	1	1	3	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6661869G>A	ENST00000299441.3	-	2	1387	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	326	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCATGGACCCGCCGCTGCTCA	0.607													A	6661869	G	A	6661869	3	1	364	1	0	0	0	0	1	0	0	0	4321	1086	38	1	9000	1	DCHS1	11	6661869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13096	6661869	128344647	8389	31891											
DCHS1	8642	broad.mit.edu	37	chr11	6662069	6662069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagacaccacagcatggtagCggctctgattgaaagccggg	11	6	13	11	2	1	3	0	2	1	1	1	3	1	3	2	3	3	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6662069C>T	ENST00000299441.3	-	2	1187	c.776G>A	c.(775-777)cGc>cAc	p.R259H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	259	Cadherin 3.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGCATGGTAGCGGCTCTGATT	0.607													T	6662069	C	T	6662069	3	4	364	1	0	0	0	0	1	0	0	0	4321	768	27	1	9200	1	DCHS1	11	6662069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200	6662069	128344447	8390	31892											
OR2AG1	144125	broad.mit.edu	37	chr11	6807113	6807113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttctacacaattgtcaCtccagccctgaatccactca	10	13	4	14	0	3	1	2	1	1	0	5	1	5	1	3	0	2	1	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6807113C>T	ENST00000307401.4	+	1	866	c.845C>T	c.(844-846)aCt>aTt	p.T282I		NM_001004489.2	NP_001004489.1	Q9H205	O2AG1_HUMAN	olfactory receptor, family 2, subfamily AG, member 1	282					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(13)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.19e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		ACAATTGTCACTCCAGCCCTG	0.507													T	6807113	C	T	6807113	3	4	364	1	0	0	0	0	1	0	0	0	11060	565	20	2	847	2	OR2AG1	11	6807113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145044	6807113	128199403	8391	31893											
OR6A2	8590	broad.mit.edu	37	chr11	6816879	6816879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagtacctgtagtggcgcagGagcagggaagcccagcaaca	12	5	14	10	1	0	0	0	0	0	0	0	2	0	2	2	3	5	5	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6816879G>A	ENST00000332601.3	-	1	249	c.61C>T	c.(61-63)Cct>Tct	p.P21S		NM_003696.2	NP_003687.2	O95222	OR6A2_HUMAN	olfactory receptor, family 6, subfamily A, member 2	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(4)|pancreas(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	29		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGTGGCGCAGGAGCAGGGAAG	0.493													A	6816879	G	A	6816879	3	1	364	1	0	0	0	0	1	0	0	0	11262	1174	41	2	926	2	OR6A2	11	6816879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9766	6816879	128189637	8392	31894											
OR10A5	144124	broad.mit.edu	37	chr11	6867382	6867382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcccaggctttcctgtaGctactgtgcagaccacatgg	7	11	11	12	0	0	1	0	0	0	1	2	1	2	1	3	3	3	5	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6867382G>T	ENST00000299454.4	+	1	500	c.469G>T	c.(469-471)Gct>Tct	p.A157S	OR10A5_ENST00000379831.2_Missense_Mutation_p.A161S			Q9H207	O10A5_HUMAN	olfactory receptor, family 10, subfamily A, member 5	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	21		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CTTTCCTGTAGCTACTGTGCA	0.542													T	6867382	G	T	6867382	3	4	364	1	0	0	0	0	1	0	0	0	10969	971	34	4	471	4	OR10A5	11	6867382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50503	6867382	128139134	8393	31895											
OR2D2	120776	broad.mit.edu	37	chr11	6913227	6913227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgctgttactgcctcGgtagggtagcctcagtatga	9	11	12	9	1	1	1	1	1	0	0	2	1	1	1	2	2	5	6	2	2	5	4	rs148113613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6913227G>A	ENST00000299459.2	-	1	603	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTACTGCCTCGGTAGGGTAGC	0.493													A	6913227	G	A	6913227	4	1	364	1	0	0	0	0	0	1	0	0	11070	1124	39	1	424	1	OR2D2	11	6913227	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45845	6913227	128093289	8394	31896											
ZNF215	7762	broad.mit.edu	37	chr11	6964317	6964317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaacttaatgttttaggaaCcagtgacattcaaagatgtg	14	12	10	5	0	1	2	1	1	0	1	1	4	1	4	1	2	2	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:6964317C>T	ENST00000278319.5	+	5	1075	c.487C>T	c.(487-489)Cca>Tca	p.P163S	ZNF215_ENST00000414517.2_Missense_Mutation_p.P163S|ZNF215_ENST00000529903.1_Missense_Mutation_p.P163S|ZNF215_ENST00000527171.1_Intron	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	163					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		GTTTTAGGAACCAGTGACATT	0.428													T	6964317	C	T	6964317	3	4	364	1	0	0	0	0	1	0	0	0	17872	507	18	2	497	2	ZNF215	11	6964317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51090	6964317	128042199	8395	31897											
ZNF214	7761	broad.mit.edu	37	chr11	7021900	7021900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtaatgaatttctactgagGtctttatcacactcaatttt	12	17	5	7	0	4	2	2	2	2	0	4	2	4	2	0	1	1	1	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7021900G>A	ENST00000278314.4	-	3	1329	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	ZNF214_ENST00000536068.1_Silent_p.D338D	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TTCTACTGAGGTCTTTATCAC	0.373													A	7021900	G	A	7021900	2	1	364	1	0	0	0	0	0	0	0	1	17871	1252	44	2		2	ZNF214	11	7021900	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57583	7021900	127984616	8396	31898											
NLRP14	338323	broad.mit.edu	37	chr11	7059905	7059905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaagaggaattaaatacaTtcaagttattcctaaaggag	19	10	7	5	0	1	1	1	0	0	1	2	3	2	3	1	2	1	1	1	2	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7059905T>C	ENST00000299481.4	+	2	434	c.88T>C	c.(88-90)Ttc>Ctc	p.F30L		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	30	DAPIN.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		ATTAAATACATTCAAGTTATT	0.428													C	7059905	T	C	7059905	3	2	364	1	0	0	0	0	1	0	0	0	10552	1493	52	3	90	3	NLRP14	11	7059905	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	38005	7059905	127946611	8397	31899											
NLRP14	338323	broad.mit.edu	37	chr11	7081244	7081244	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctacaagacaatggagtgaAgcttctgtgtgatgtctttc	10	13	11	7	0	2	3	0	2	2	1	3	4	2	4	0	1	2	2	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7081244A>T	ENST00000299481.4	+	9	3099	c.2753A>T	c.(2752-2754)aAg>aTg	p.K918M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	918					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AATGGAGTGAAGCTTCTGTGT	0.423													T	7081244	A	T	7081244	3	4	364	1	0	0	0	0	1	0	0	0	10552	72	3	5	2783	5	NLRP14	11	7081244	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21339	7081244	127925272	8398	31900											
PPFIBP2	8495	broad.mit.edu	37	chr11	7669752	7669752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttattgacagccacccCtcaggacatggaaaaggtaa	14	7	8	12	0	1	1	1	1	0	0	1	3	1	3	4	3	1	1	4	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7669752C>A	ENST00000299492.4	+	18	2169	c.1781C>A	c.(1780-1782)cCt>cAt	p.P594H	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P451H|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P482H|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P436H	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	594	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ACAGCCACCCCTCAGGACATG	0.572													A	7669752	C	A	7669752	3	1	364	1	0	0	0	0	1	0	0	0	12391	681	24	4	1847	4	PPFIBP2	11	7669752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	588508	7669752	127336764	8399	31901											
PPFIBP2	8495	broad.mit.edu	37	chr11	7670067	7670067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccactccacaggaagaagCttgttttagcagtgaaagcc	13	8	9	11	0	0	2	0	1	0	1	1	3	1	3	3	1	3	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7670067C>T	ENST00000299492.4	+	19	2222	c.1834C>T	c.(1834-1836)Ctt>Ttt	p.L612F	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.L469F|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.L500F|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.L454F	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	612	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CAGGAAGAAGCTTGTTTTAGC	0.428													T	7670067	C	T	7670067	3	4	364	1	0	0	0	0	1	0	0	0	12391	797	28	2	1904	2	PPFIBP2	11	7670067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315	7670067	127336449	8400	31902											
PPFIBP2	8495	broad.mit.edu	37	chr11	7673050	7673050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcaccagcttacacacCactgaccaccacagccaaag	13	4	6	18	0	1	1	1	1	0	0	1	1	1	1	6	1	3	1	6	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7673050C>A	ENST00000299492.4	+	23	2799	c.2411C>A	c.(2410-2412)cCa>cAa	p.P804Q	PPFIBP2_ENST00000530181.1_Missense_Mutation_p.P661Q|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.P692Q|PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000533792.1_Missense_Mutation_p.P646Q	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	804					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCTTACACACCACTGACCACC	0.612													A	7673050	C	A	7673050	3	1	364	1	0	0	0	0	1	0	0	0	12391	594	21	4	2497	4	PPFIBP2	11	7673050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2983	7673050	127333466	8401	31903											
CYB5R2	51700	broad.mit.edu	37	chr11	7687771	7687771	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcttttctgaccaagataTcctcctctgtctagaaaaga	11	13	6	11	0	4	4	0	1	4	3	6	4	6	4	3	0	0	1	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7687771T>G	ENST00000533558.1	-	8	1125	c.569A>C	c.(568-570)gAt>gCt	p.D190A	CYB5R2_ENST00000299497.9_Missense_Mutation_p.D190A|CYB5R2_ENST00000524790.1_Missense_Mutation_p.D190A|CYB5R2_ENST00000528585.1_Intron|CYB5R2_ENST00000299498.6_Missense_Mutation_p.D190A			Q6BCY4	NB5R2_HUMAN	cytochrome b5 reductase 2	190					sterol biosynthetic process	membrane|soluble fraction	cytochrome-b5 reductase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11				Epithelial(150;5.48e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GACCAAGATATCCTCCTCTGT	0.517											OREG0020724	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	7687771	T	G	7687771	3	3	364	1	0	0	0	0	1	0	0	0	4160	1435	50	5	269	5	CYB5R2	11	7687771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14721	7687771	127318745	8402	31904											
OR10A6	390093	broad.mit.edu	37	chr11	7949989	7949989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaggcataataactgcaCtgaaactcaggtccaccaca	14	9	6	12	0	2	1	2	1	0	0	3	1	3	1	2	2	3	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7949989C>A	ENST00000309838.2	-	1	220	c.221G>T	c.(220-222)aGt>aTt	p.S74I		NM_001004461.1	NP_001004461.1	Q8NH74	O10A6_HUMAN	olfactory receptor, family 10, subfamily A, member 6	74					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AATAACTGCACTGAAACTCAG	0.428													A	7949989	C	A	7949989	3	1	364	1	0	0	0	0	1	0	0	0	10970	565	20	4	726	4	OR10A6	11	7949989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262218	7949989	127056527	8403	31905											
NLRP10	338322	broad.mit.edu	37	chr11	7982200	7982200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgaagtacctcgccCtctcctcctcagagaagcct	9	8	9	15	1	2	2	1	1	1	1	5	4	3	3	5	1	3	2	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:7982200C>A	ENST00000328600.2	-	2	1120	c.959G>T	c.(958-960)aGg>aTg	p.R320M		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	320	NACHT.						ATP binding	p.R320M(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		GTACCTCGCCCTCTCCTCCTC	0.512													A	7982200	C	A	7982200	3	1	364	1	0	0	0	0	1	0	0	0	10548	681	24	4	1012	4	NLRP10	11	7982200	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32211	7982200	127024316	8404	31906											
TUB	7275	broad.mit.edu	37	chr11	8117140	8117140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcagaccacgcccaggacGcaggggagacggcagctggt	10	3	16	12	3	1	2	1	0	0	2	1	4	1	3	2	5	1	3	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117140G>A	ENST00000305253.4	+	6	899	c.658G>A	c.(658-660)Gca>Aca	p.A220T	TUB_ENST00000534099.1_Missense_Mutation_p.A171T|TUB_ENST00000299506.2_Missense_Mutation_p.A165T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	165					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CGCCCAGGACGCAGGGGAGAC	0.667													A	8117140	G	A	8117140	3	1	364	1	0	0	0	0	1	0	0	0	16844	1087	38	1	722	1	TUB	11	8117140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134940	8117140	126889376	8405	31907											
TUB	7275	broad.mit.edu	37	chr11	8117155	8117155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacgcaggggagacggcaGctggtgggggcgaacggccc	8	2	21	10	4	0	1	0	0	0	1	0	4	0	2	1	8	2	3	1	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8117155G>A	ENST00000305253.4	+	6	914	c.673G>A	c.(673-675)Gct>Act	p.A225T	TUB_ENST00000534099.1_Missense_Mutation_p.A176T|TUB_ENST00000299506.2_Missense_Mutation_p.A170T	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	170					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		GGAGACGGCAGCTGGTGGGGG	0.652													A	8117155	G	A	8117155	3	1	364	1	0	0	0	0	1	0	0	0	16844	971	34	2	737	2	TUB	11	8117155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15	8117155	126889361	8406	31908											
STK33	65975	broad.mit.edu	37	chr11	8457657	8457657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaagcttctcttctgagCttgccaaaaagggtggttct	11	12	9	9	0	3	1	0	1	3	0	4	1	3	1	1	2	3	3	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8457657C>A	ENST00000447869.1	-	9	1895	c.977G>T	c.(976-978)aGc>aTc	p.S326I	STK33_ENST00000396672.1_Missense_Mutation_p.S326I|STK33_ENST00000534493.1_Missense_Mutation_p.S285I|STK33_ENST00000396673.1_Missense_Mutation_p.S326I|STK33_ENST00000315204.1_Missense_Mutation_p.S326I|STK33_ENST00000473980.1_5'UTR|STK33_ENST00000358872.3_Missense_Mutation_p.S139I			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	326	Protein kinase.					Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		CTCTTCTGAGCTTGCCAAAAA	0.323													A	8457657	C	A	8457657	3	1	364	1	0	0	0	0	1	0	0	0	15396	797	28	4	583	4	STK33	11	8457657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340502	8457657	126548859	8407	31909											
STK33	65975	broad.mit.edu	37	chr11	8496321	8496321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactaccaatgcttgatgtCtgtgacatttccaccaccaa	11	11	6	13	0	1	2	0	2	1	0	2	2	2	2	4	0	2	2	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8496321C>A	ENST00000447869.1	-	1	1050	c.132G>T	c.(130-132)caG>caT	p.Q44H	STK33_ENST00000396672.1_Missense_Mutation_p.Q44H|STK33_ENST00000534493.1_Missense_Mutation_p.Q3H|STK33_ENST00000396673.1_Missense_Mutation_p.Q44H|STK33_ENST00000315204.1_Missense_Mutation_p.Q44H|STK33_ENST00000358872.3_Intron			Q9BYT3	STK33_HUMAN	serine/threonine kinase 33	44						Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|skin(3)	23				Epithelial(150;2.13e-06)|BRCA - Breast invasive adenocarcinoma(625;0.239)		TGCTTGATGTCTGTGACATTT	0.378													A	8496321	C	A	8496321	3	1	364	1	0	0	0	0	1	0	0	0	15396	912	32	4	1460	4	STK33	11	8496321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38664	8496321	126510195	8408	31910											
ST5	6764	broad.mit.edu	37	chr11	8718054	8718054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataaaaacctcaagaaagCggcggatgcttttggaggcc	13	7	11	10	2	1	1	1	0	0	1	1	3	1	3	3	4	3	1	3	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8718054C>T	ENST00000534127.1	-	21	3597	c.3212G>A	c.(3211-3213)cGc>cAc	p.R1071H	ST5_ENST00000534278.1_Missense_Mutation_p.R262H|ST5_ENST00000530991.1_Missense_Mutation_p.R543H|ST5_ENST00000526099.1_Missense_Mutation_p.R584H|RP11-152H18.3_ENST00000529883.1_RNA|ST5_ENST00000357665.1_Missense_Mutation_p.R1071H|ST5_ENST00000313726.6_Missense_Mutation_p.R1071H|ST5_ENST00000530438.1_Missense_Mutation_p.R651H|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.R651H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	1071	dDENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTCAAGAAAGCGGCGGATGCT	0.512													T	8718054	C	T	8718054	3	4	364	1	0	0	0	0	1	0	0	0	15316	768	27	1	213	1	ST5	11	8718054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	221733	8718054	126288462	8409	31911											
ST5	6764	broad.mit.edu	37	chr11	8720914	8720914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagagcaaggccaccaccGcgtgggagcagctggagagg	10	3	18	10	2	0	2	0	0	0	2	0	4	0	3	3	5	3	4	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8720914G>A	ENST00000534127.1	-	18	3129	c.2744C>T	c.(2743-2745)gCg>gTg	p.A915V	ST5_ENST00000534278.1_Missense_Mutation_p.A106V|ST5_ENST00000530991.1_Missense_Mutation_p.A387V|ST5_ENST00000526099.1_Missense_Mutation_p.A428V|ST5_ENST00000357665.1_Missense_Mutation_p.A915V|ST5_ENST00000313726.6_Missense_Mutation_p.A915V|ST5_ENST00000530438.1_Missense_Mutation_p.A495V|RPL27A_ENST00000531102.1_Intron|ST5_ENST00000526757.1_Missense_Mutation_p.A495V	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	915	DENN.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		GGCCACCACCGCGTGGGAGCA	0.617													A	8720914	G	A	8720914	3	1	364	1	0	0	0	0	1	0	0	0	15316	1087	38	1	693	1	ST5	11	8720914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2860	8720914	126285602	8410	31912											
C11orf16	56673	broad.mit.edu	37	chr11	8942885	8942885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgggaattcttgttccacTgacatattgcaaggctctga	11	12	9	9	1	2	2	0	2	2	0	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8942885T>C	ENST00000326053.5	-	6	1488	c.1382A>G	c.(1381-1383)cAg>cGg	p.Q461R	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	461										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CTTGTTCCACTGACATATTGC	0.532													C	8942885	T	C	8942885	3	2	364	1	0	0	0	0	1	0	0	0	1642	1580	55	3	25	3	C11orf16	11	8942885	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	221971	8942885	126063631	8411	31913											
C11orf16	56673	broad.mit.edu	37	chr11	8948649	8948649	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctaagaccactctctgctGctgggctggcagctttgggc	5	12	12	12	0	2	1	0	0	2	1	3	1	2	1	1	3	3	5	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8948649G>A	ENST00000326053.5	-	4	503	c.397C>T	c.(397-399)Cag>Tag	p.Q133*	C11orf16_ENST00000525780.1_Nonsense_Mutation_p.Q133*|C11orf16_ENST00000528998.1_5'UTR	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	133										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		ACTCTCTGCTGCTGGGCTGGC	0.547													A	8948649	G	A	8948649	4	1	364	1	0	0	0	0	0	1	0	0	1642	1328	46	2	1018	2	C11orf16	11	8948649	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5764	8948649	126057867	8412	31914											
C11orf16	56673	broad.mit.edu	37	chr11	8951035	8951035	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagccagccaggcccctgCcatgctgggtcggcaacgtg	6	5	13	17	2	0	0	0	0	0	0	1	0	0	0	6	3	5	2	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8951035C>T	ENST00000326053.5	-	3	319	c.213G>A	c.(211-213)tgG>tgA	p.W71*	C11orf16_ENST00000525780.1_Nonsense_Mutation_p.W71*|C11orf16_ENST00000528998.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	71										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		CAGGCCCCTGCCATGCTGGGT	0.527													T	8951035	C	T	8951035	4	4	364	1	0	0	0	0	0	1	0	0	1642	740	26	2	1206	2	C11orf16	11	8951035	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2386	8951035	126055481	8413	31915											
TMEM9B	56674	broad.mit.edu	37	chr11	8969875	8969875	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaattcccaattagctgaGgacaacatgccggtcaaaga	14	9	8	10	1	2	2	2	1	0	1	3	3	3	3	2	2	3	1	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:8969875G>T	ENST00000534025.1	-	5	1048	c.589C>A	c.(589-591)Ctc>Atc	p.L197I	TMEM9B_ENST00000525069.1_Missense_Mutation_p.L123I|TMEM9B_ENST00000309134.5_Missense_Mutation_p.L123I	NM_020644.1	NP_065695.1	Q9NQ34	TMM9B_HUMAN	TMEM9 domain family, member B	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			breast(1)|lung(1)|prostate(1)	3				Epithelial(150;4.39e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0237)		AATTAGCTGAGGACAACATGC	0.458													T	8969875	G	T	8969875	3	4	364	1	0	0	0	0	1	0	0	0	16327	1000	35	4	11	4	TMEM9B	11	8969875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18840	8969875	126036641	8414	31916											
NRIP3	56675	broad.mit.edu	37	chr11	9009126	9009126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacaggccaaagagatgaGattatataggcagcctgtgt	14	8	11	8	0	0	2	0	1	0	2	0	4	0	2	2	2	1	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9009126G>A	ENST00000309166.3	-	3	504	c.391C>T	c.(391-393)Ctc>Ttc	p.L131F	NRIP3_ENST00000531090.1_Missense_Mutation_p.L131F	NM_020645.2	NP_065696.1	Q9NQ35	NRIP3_HUMAN	nuclear receptor interacting protein 3	131					proteolysis		aspartic-type endopeptidase activity			large_intestine(1)|lung(4)|skin(1)|stomach(1)	7				Epithelial(150;4.77e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0241)		AAAGAGATGAGATTATATAGG	0.463													A	9009126	G	A	9009126	3	1	364	1	0	0	0	0	1	0	0	0	10730	942	33	2	354	2	NRIP3	11	9009126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39251	9009126	125997390	8415	31917											
SCUBE2	57758	broad.mit.edu	37	chr11	9068913	9068913	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccactcaccacattggttTtctgcatgaccctggcccac	7	10	8	16	0	2	1	1	1	1	0	2	1	2	1	4	3	1	2	4	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9068913T>C	ENST00000457346.2	-	16	2066	c.1992A>G	c.(1990-1992)gaA>gaG	p.E664E	SCUBE2_ENST00000520467.1_Silent_p.E664E|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Silent_p.E509E|SCUBE2_ENST00000309263.3_Silent_p.E635E			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	635						extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		CACATTGGTTTTCTGCATGAC	0.557													C	9068913	T	C	9068913	2	2	364	1	0	0	0	0	0	0	0	1	14038	1838	64	3		3	SCUBE2	11	9068913	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	59787	9068913	125937603	8416	31918											
SCUBE2	57758	broad.mit.edu	37	chr11	9077443	9077443	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacaggtcctatccaaagaGcactcatccacatctgtaat	13	10	5	13	0	3	1	2	0	1	1	6	1	6	1	3	1	1	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9077443G>T	ENST00000457346.2	-	10	1178	c.1104C>A	c.(1102-1104)tgC>tgA	p.C368*	SCUBE2_ENST00000520467.1_Nonsense_Mutation_p.C368*|RP11-467K18.2_ENST00000531592.1_RNA|SCUBE2_ENST00000450649.2_Nonsense_Mutation_p.C368*|SCUBE2_ENST00000309263.3_Nonsense_Mutation_p.C368*			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	368	EGF-like 8; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TATCCAAAGAGCACTCATCCA	0.502													T	9077443	G	T	9077443	4	4	364	1	0	0	0	0	0	1	0	0	14038	963	34	4	2038	4	SCUBE2	11	9077443	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8530	9077443	125929073	8417	31919											
SCUBE2	57758	broad.mit.edu	37	chr11	9111361	9111361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagtcatctagcccttggGcacactcatctacatctgca	9	10	8	14	0	5	0	2	0	3	0	5	0	5	0	1	2	3	3	1	2	2	3	rs72549211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9111361G>A	ENST00000457346.2	-	2	223	c.149C>T	c.(148-150)gCc>gTc	p.A50V	SCUBE2_ENST00000520467.1_Missense_Mutation_p.A50V|SCUBE2_ENST00000534295.1_5'UTR|SCUBE2_ENST00000450649.2_Missense_Mutation_p.A50V|SCUBE2_ENST00000309263.3_Missense_Mutation_p.A50V			Q9NQ36	SCUB2_HUMAN	signal peptide, CUB domain, EGF-like 2	50	EGF-like 1; calcium-binding (Potential).					extracellular region	calcium ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(15)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42				all cancers(16;8.57e-09)|Epithelial(150;4.42e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0116)		TAGCCCTTGGGCACACTCATC	0.592													A	9111361	G	A	9111361	3	1	364	1	0	0	0	0	1	0	0	0	14038	1203	42	2	3025	2	SCUBE2	11	9111361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33918	9111361	125895155	8418	31920											
DENND5A	23258	broad.mit.edu	37	chr11	9164959	9164959	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggctcacctctttctcAggcttatggaagtgcttcac	8	12	10	11	0	4	0	3	0	2	0	5	2	4	2	1	4	1	3	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9164959A>G	ENST00000328194.3	-	20	3698	c.3378T>C	c.(3376-3378)ccT>ccC	p.P1126P	DENND5A_ENST00000530044.1_Silent_p.P1126P|DENND5A_ENST00000527700.1_Silent_p.P469P	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1126										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CCTCTTTCTCAGGCTTATGGA	0.458													G	9164959	A	G	9164959	2	3	364	1	0	0	0	0	0	0	0	1	4475	175	7	3		3	DENND5A	11	9164959	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53598	9164959	125841557	8419	31921											
DENND5A	23258	broad.mit.edu	37	chr11	9172281	9172281	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagtgagctggcatcaGacttcctacgttctgaatca	10	11	10	10	1	3	4	2	3	1	1	4	4	4	4	1	1	2	4	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9172281G>T	ENST00000328194.3	-	14	2872	c.2552C>A	c.(2551-2553)tCt>tAt	p.S851Y	DENND5A_ENST00000530044.1_Missense_Mutation_p.S851Y|DENND5A_ENST00000527700.1_Missense_Mutation_p.S194Y	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	851	RUN 1.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCTGGCATCAGACTTCCTACG	0.438													T	9172281	G	T	9172281	3	4	364	1	0	0	0	0	1	0	0	0	4475	942	33	4	1351	4	DENND5A	11	9172281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7322	9172281	125834235	8420	31922											
DENND5A	23258	broad.mit.edu	37	chr11	9225588	9225588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcataggagttgaagcGctgcagtttggtcacaggag	11	10	14	6	1	2	1	2	1	0	0	2	3	2	3	0	3	2	4	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9225588G>A	ENST00000328194.3	-	4	888	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	DENND5A_ENST00000530044.1_Missense_Mutation_p.R190C	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	190										breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GAGTTGAAGCGCTGCAGTTTG	0.522													A	9225588	G	A	9225588	3	1	364	1	0	0	0	0	1	0	0	0	4475	1087	38	1	3375	1	DENND5A	11	9225588	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53307	9225588	125780928	8421	31923											
IPO7	10527	broad.mit.edu	37	chr11	9451283	9451283	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttcacattataagaGaaacagaaaatgatgacctt	16	12	5	8	0	3	4	1	2	2	2	3	5	3	4	1	0	1	0	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9451283G>T	ENST00000379719.3	+	15	1796	c.1654G>T	c.(1654-1656)Gaa>Taa	p.E552*		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	552					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		CATTATAAGAGAAACAGAAAA	0.343													T	9451283	G	T	9451283	4	4	364	1	0	0	0	0	0	1	0	0	7855	943	33	4	1712	4	IPO7	11	9451283	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	225695	9451283	125555233	8422	31924											
IPO7	10527	broad.mit.edu	37	chr11	9452542	9452542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcttagtgtagttgaagatCataaagaggtaagaagatga	16	12	11	2	0	2	6	1	2	1	4	2	6	2	6	0	1	0	3	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9452542C>T	ENST00000379719.3	+	16	2015	c.1873C>T	c.(1873-1875)Cat>Tat	p.H625Y	CTD-2371O3.2_ENST00000531111.1_RNA	NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	625					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		AGTTGAAGATCATAAAGAGGT	0.383													T	9452542	C	T	9452542	3	4	364	1	0	0	0	0	1	0	0	0	7855	826	29	2	1935	2	IPO7	11	9452542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1259	9452542	125553974	8423	31925											
IPO7	10527	broad.mit.edu	37	chr11	9455173	9455173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggtactgttttacaacaGcatgtcttaggtattatacc	11	16	7	7	0	1	0	0	0	1	0	1	0	1	0	1	2	5	4	1	2	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9455173G>A	ENST00000379719.3	+	17	2080	c.1938G>A	c.(1936-1938)caG>caA	p.Q646Q		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	646					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		TTTTACAACAGCATGTCTTAG	0.343													A	9455173	G	A	9455173	2	1	364	1	0	0	0	0	0	0	0	1	7855	962	34	2		2	IPO7	11	9455173	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2631	9455173	125551343	8424	31926											
SBF2	81846	broad.mit.edu	37	chr11	9875174	9875174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataaatcgggtaatgaaccGcacaacagaattggcaatgt	17	8	9	7	2	0	2	0	1	0	1	1	2	0	2	1	2	2	3	1	2	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:9875174G>A	ENST00000256190.8	-	20	2586	c.2449C>T	c.(2449-2451)Cgg>Tgg	p.R817W	RP11-1H15.2_ENST00000533659.1_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	817					myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		GTAATGAACCGCACAACAGAA	0.423													A	9875174	G	A	9875174	3	1	364	1	0	0	0	0	1	0	0	0	13951	1086	38	1	3184	1	SBF2	11	9875174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420001	9875174	125131342	8425	31927											
SBF2	81846	broad.mit.edu	37	chr11	10024128	10024128	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaagaggaaacattaaaGattccagggctctacaagca	17	9	8	7	0	1	2	0	0	1	2	2	3	2	3	1	2	3	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10024128G>T	ENST00000256190.8	-	7	865	c.728C>A	c.(727-729)tCt>tAt	p.S243Y	SBF2_ENST00000527019.1_5'UTR	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	243	DENN.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		AAACATTAAAGATTCCAGGGC	0.348													T	10024128	G	T	10024128	3	4	364	1	0	0	0	0	1	0	0	0	13951	942	33	4	4957	4	SBF2	11	10024128	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148954	10024128	124982388	8426	31928											
AMPD3	272	broad.mit.edu	37	chr11	10516515	10516515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggggccagtgagctgCgtgacctgtatttgaaaact	8	11	14	8	1	0	3	0	3	0	0	0	3	0	3	2	2	3	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10516515C>T	ENST00000444303.2	+	7	1199	c.727C>T	c.(727-729)Cgt>Tgt	p.R243C	AMPD3_ENST00000396554.3_Missense_Mutation_p.R411C	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	402					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAGTGAGCTGCGTGACCTGTA	0.532													T	10516515	C	T	10516515	3	4	364	1	0	0	0	0	1	0	0	0	587	768	27	1	1281	1	AMPD3	11	10516515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492387	10516515	124490001	8427	31929											
AMPD3	272	broad.mit.edu	37	chr11	10521710	10521710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagagcccaaacccggaCgtctggaccagtgagcagaa	14	3	12	12	2	1	3	0	1	1	2	1	6	1	5	3	2	3	1	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10521710C>T	ENST00000444303.2	+	10	1630	c.1158C>T	c.(1156-1158)gaC>gaT	p.D386D	AMPD3_ENST00000530864.1_3'UTR|AMPD3_ENST00000396554.3_Silent_p.D554D	NM_001172431.1	NP_001165902.1	Q01432	AMPD3_HUMAN	adenosine monophosphate deaminase 3	545					AMP catabolic process|purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(3)|skin(1)	25				all cancers(16;1.14e-08)|Epithelial(150;2.83e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0291)		CAAACCCGGACGTCTGGACCA	0.567													T	10521710	C	T	10521710	2	4	364	1	0	0	0	0	0	0	0	1	587	535	19	1		1	AMPD3	11	10521710	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5195	10521710	124484806	8428	31930											
MRVI1	10335	broad.mit.edu	37	chr11	10597987	10597987	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcagcctgctctgcacaAgagttataggaattgtagag	12	10	10	9	0	2	2	1	0	1	2	2	3	2	3	2	1	3	4	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10597987A>G	ENST00000547195.1	-	20	2858	c.2358T>C	c.(2356-2358)tcT>tcC	p.S786S	MRVI1_ENST00000421747.1_Silent_p.S868S|MRVI1_ENST00000527509.2_Silent_p.S786S|MRVI1_ENST00000436272.1_Silent_p.S850S|MRVI1_ENST00000558540.1_Silent_p.S562S|MRVI1_ENST00000531107.1_Silent_p.S869S|MRVI1_ENST00000545852.1_Silent_p.S562S|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Silent_p.S877S|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Silent_p.S786S|MRVI1_ENST00000424001.1_Silent_p.S562S|MRVI1_ENST00000541483.1_Silent_p.S671S|MRVI1_ENST00000534266.2_Silent_p.S562S|MRVI1-AS1_ENST00000529979.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	850	Glu-rich.				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GCTCTGCACAAGAGTTATAGG	0.552													G	10597987	A	G	10597987	2	3	364	1	0	0	0	0	0	0	0	1	9929	59	3	3		3	MRVI1	11	10597987	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	76277	10597987	124408529	8429	31931											
MRVI1	10335	broad.mit.edu	37	chr11	10615119	10615119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attaaacttaggaaccacagCaacgctgaccctccggcgag	13	6	9	13	3	0	1	0	1	0	0	1	3	1	2	3	2	4	2	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10615119C>T	ENST00000547195.1	-	16	2322	c.1822G>A	c.(1822-1824)Gct>Act	p.A608T	MRVI1_ENST00000421747.1_Missense_Mutation_p.A690T|MRVI1_ENST00000527509.2_Missense_Mutation_p.A608T|MRVI1_ENST00000436272.1_Missense_Mutation_p.A672T|MRVI1_ENST00000558540.1_Missense_Mutation_p.A384T|MRVI1_ENST00000531107.1_Missense_Mutation_p.A691T|MRVI1_ENST00000545852.1_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000529829.1_RNA|MRVI1_ENST00000423302.2_Missense_Mutation_p.A699T|LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000552103.1_Missense_Mutation_p.A608T|MRVI1_ENST00000424001.1_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000525578.1_RNA|MRVI1_ENST00000541483.1_Missense_Mutation_p.A493T|MRVI1_ENST00000534266.2_Missense_Mutation_p.A384T|MRVI1-AS1_ENST00000529979.1_RNA	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	672					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		GGAACCACAGCAACGCTGACC	0.517													T	10615119	C	T	10615119	3	4	364	1	0	0	0	0	1	0	0	0	9929	710	25	2	663	2	MRVI1	11	10615119	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17132	10615119	124391397	8430	31932											
MRVI1	10335	broad.mit.edu	37	chr11	10673640	10673640	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgggaatgtggggcaTggcagcctcctgctgggagt	5	9	17	10	1	0	0	0	0	0	0	3	2	2	2	3	5	2	3	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10673640T>C	ENST00000423302.2	-	2	306	c.157A>G	c.(157-159)Atg>Gtg	p.M53V	MRVI1_ENST00000421747.1_Missense_Mutation_p.M44V|MRVI1_ENST00000527509.2_Intron|MRVI1_ENST00000532037.1_5'UTR|MRVI1_ENST00000436272.1_Missense_Mutation_p.M44V|MRVI1_ENST00000558540.1_5'UTR|MRVI1_ENST00000531107.1_Missense_Mutation_p.M44V|MRVI1_ENST00000545852.1_5'UTR|MRVI1_ENST00000552103.1_5'UTR|MRVI1_ENST00000547195.1_Intron|MRVI1_ENST00000424001.1_5'UTR|MRVI1_ENST00000541483.1_Missense_Mutation_p.M53V|MRVI1_ENST00000534266.2_5'UTR	NM_001206880.1|NM_130385.3	NP_001193809.1|NP_569056.4	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	44					platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		ATGTGGGGCATGGCAGCCTCC	0.687													C	10673640	T	C	10673640	3	2	364	1	0	0	0	0	1	0	0	0	9929	1464	51	3	2661	3	MRVI1	11	10673640	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58521	10673640	124332876	8431	31933											
CTR9	9646	broad.mit.edu	37	chr11	10777339	10777339	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataatattccagcccttCttggtaagtggtctttggca	10	14	8	9	0	2	0	0	0	2	0	3	0	3	0	2	3	1	2	2	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10777339C>A	ENST00000361367.2	+	4	925	c.499C>A	c.(499-501)Ctt>Att	p.L167I		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	167					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		TCCAGCCCTTCTTGGTAAGTG	0.398													A	10777339	C	A	10777339	3	1	364	1	0	0	0	0	1	0	0	0	4057	913	32	4	513	4	CTR9	11	10777339	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103699	10777339	124229177	8432	31934											
EIF4G2	1982	broad.mit.edu	37	chr11	10820605	10820605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttccaagccaagaaagcTtcttcttcaataatttccat	12	15	3	11	0	4	1	1	0	3	1	6	1	6	1	3	0	2	1	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10820605T>C	ENST00000526148.1	-	21	3102	c.2592A>G	c.(2590-2592)gaA>gaG	p.E864E	EIF4G2_ENST00000339995.5_Silent_p.E864E|RP11-685M7.5_ENST00000532365.1_RNA|EIF4G2_ENST00000396525.2_Silent_p.E826E|EIF4G2_ENST00000525681.1_Silent_p.E864E	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	864	W2.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CCAAGAAAGCTTCTTCTTCAA	0.328													C	10820605	T	C	10820605	2	2	364	1	0	0	0	0	0	0	0	1	5078	1606	56	3		3	EIF4G2	11	10820605	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43266	10820605	124185911	8433	31935											
EIF4G2	1982	broad.mit.edu	37	chr11	10824815	10824815	+	Silent	SNP	T	T	C																															cttaacatcaaggagcacatTcgggcaaagtactgatccat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824815T>C	ENST00000526148.1	-	10	1350	c.840A>G	c.(838-840)cgA>cgG	p.R280R	EIF4G2_ENST00000339995.5_Silent_p.R280R|EIF4G2_ENST00000396525.2_Silent_p.R280R|EIF4G2_ENST00000525681.1_Silent_p.R280R	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	280	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AGGAGCACATTCGGGCAAAGT	0.368													C	10824815	T	C	10824815	2	2	364	1	0	0	0	0	0	0	0	1	5078	1770	62	3		3	EIF4G2	11	10824815	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4210	10824815	124181701	8434	31936	79	2									
EIF4G2	1982	broad.mit.edu	37	chr11	10824816	10824816	+	Missense_Mutation	SNP	C	C	T																															ttaacatcaaggagcacattCgggcaaagtactgatccatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:10824816C>T	ENST00000526148.1	-	10	1349	c.839G>A	c.(838-840)cGa>cAa	p.R280Q	EIF4G2_ENST00000339995.5_Missense_Mutation_p.R280Q|EIF4G2_ENST00000396525.2_Missense_Mutation_p.R280Q|EIF4G2_ENST00000525681.1_Missense_Mutation_p.R280Q	NM_001172705.1	NP_001166176	P78344	IF4G2_HUMAN	eukaryotic translation initiation factor 4 gamma, 2	280	MIF4G.				cell cycle arrest|cell death|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	43				all cancers(16;2.8e-07)|Epithelial(150;4.18e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGAGCACATTCGGGCAAAGTA	0.363													T	10824816	C	T	10824816	3	4	364	1	0	0	0	0	1	0	0	0	5078	884	31	1	1936	1	EIF4G2	11	10824816	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	10824816	124181700	8435	31937	79	2									
MICAL2	9645	broad.mit.edu	37	chr11	12248580	12248580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcccaacagattcttggCgcaaaaactatggagaaaat	16	10	7	8	1	1	2	0	0	1	2	2	3	2	2	1	2	2	1	1	2	6	4	rs139751583	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12248580C>T	ENST00000256194.4	+	15	2185	c.1897C>T	c.(1897-1899)Cgc>Tgc	p.R633C	MICAL2_ENST00000342902.5_Missense_Mutation_p.R633C|MICAL2_ENST00000527546.1_Missense_Mutation_p.R633C|MICAL2_ENST00000537344.1_Missense_Mutation_p.R633C|MICAL2_ENST00000379612.3_Missense_Mutation_p.R633C	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	633						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		AGATTCTTGGCGCAAAAACTA	0.468													T	12248580	C	T	12248580	3	4	364	1	0	0	0	0	1	0	0	0	9645	768	27	1	1947	1	MICAL2	11	12248580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1423764	12248580	122757936	8436	31938											
MICAL2	9645	broad.mit.edu	37	chr11	12278494	12278494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaccttgcgcctggccGcctacacctttgactgcgat	6	9	8	18	3	0	1	0	1	0	0	0	2	0	1	7	1	3	0	7	1	1	3	rs61729668	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12278494G>A	ENST00000256194.4	+	24	3406	c.3118G>A	c.(3118-3120)Gcc>Acc	p.A1040T	MICAL2_ENST00000342902.5_Missense_Mutation_p.A1019T|MICAL2_ENST00000527546.1_Missense_Mutation_p.A850T|MICAL2_ENST00000537344.1_Missense_Mutation_p.A850T|MICAL2_ENST00000379612.3_Missense_Mutation_p.A814T	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1040	LIM zinc-binding.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCCTGGCCGCCTACACCTT	0.632													A	12278494	G	A	12278494	3	1	364	1	0	0	0	0	1	0	0	0	9645	1087	38	1	3204	1	MICAL2	11	12278494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29914	12278494	122728022	8437	31939											
MICALCL	84953	broad.mit.edu	37	chr11	12316328	12316328	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcctttcaaaagcacCtccctgcgccaggcagctcc	8	7	8	18	1	1	0	1	0	0	0	3	0	3	0	5	1	5	4	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12316328C>A	ENST00000256186.2	+	3	1641	c.1350C>A	c.(1348-1350)acC>acA	p.T450T		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	450					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		TCAAAAGCACCTCCCTGCGCC	0.597													A	12316328	C	A	12316328	2	1	364	1	0	0	0	0	0	0	0	1	9647	668	24	4		4	MICALCL	11	12316328	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37834	12316328	122690188	8438	31940											
PARVA	55742	broad.mit.edu	37	chr11	12518085	12518085	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaaaactgcagactgtcCtggagaagatcaatgaaacc	17	6	9	9	0	1	4	1	1	0	3	2	5	2	4	2	1	4	2	2	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12518085C>A	ENST00000334956.8	+	5	944	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	PARVA_ENST00000550549.1_Missense_Mutation_p.L161M|PARVA_ENST00000539723.1_Missense_Mutation_p.L161M|PARVA_ENST00000538608.1_Missense_Mutation_p.L108M	NM_018222.4	NP_060692.2	Q9NVD7	PARVA_HUMAN	parvin, alpha	161	CH 1.				cell adhesion|cell junction assembly|cilium morphogenesis	actin cytoskeleton|cytosol|focal adhesion	actin binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)	11				Epithelial(150;0.00624)		GCAGACTGTCCTGGAGAAGAT	0.468													A	12518085	C	A	12518085	3	1	364	1	0	0	0	0	1	0	0	0	11544	680	24	4	499	4	PARVA	11	12518085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201757	12518085	122488431	8439	31941											
TEAD1	7003	broad.mit.edu	37	chr11	12901223	12901223	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggtagccatgcgttatgTattaagttggtgtgtcactg	7	15	12	7	1	1	0	1	0	0	0	1	0	1	0	2	2	2	4	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12901223T>C	ENST00000526600.1	+	1	234	c.11T>C	c.(10-12)gTa>gCa	p.V4A	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Intron|TEAD1_ENST00000361905.4_Intron|TEAD1_ENST00000361985.2_Intron|TEAD1_ENST00000527575.1_Intron			P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	0					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		ATGCGTTATGTATTAAGTTGG	0.507													C	12901223	T	C	12901223	3	2	364	1	0	0	0	0	1	0	0	0	15838	1653	57	3		3	TEAD1	11	12901223	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	383138	12901223	122105293	8440	31942											
TEAD1	7003	broad.mit.edu	37	chr11	12904597	12904597	+	Silent	SNP	T	T	C																															tcagtccctgcctggcaaggTcgctccattggcacaaccaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904597T>C	ENST00000361905.4	+	9	1244	c.579T>C	c.(577-579)ggT>ggC	p.G193G	TEAD1_ENST00000334310.6_Silent_p.G197G|TEAD1_ENST00000527636.1_Silent_p.G208G|TEAD1_ENST00000526600.1_Silent_p.G112G|TEAD1_ENST00000361985.2_Silent_p.G208G|TEAD1_ENST00000527575.1_Silent_p.G208G	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	208	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCTGGCAAGGTCGCTCCATTG	0.587													C	12904597	T	C	12904597	2	2	364	1	0	0	0	0	0	0	0	1	15838	1654	58	3		3	TEAD1	11	12904597	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3374	12904597	122101919	8441	31943	80	2									
TEAD1	7003	broad.mit.edu	37	chr11	12904600	12904600	+	Silent	SNP	C	C	T																															gtccctgcctggcaaggtcgCtccattggcacaaccaagct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12904600C>T	ENST00000361905.4	+	9	1247	c.582C>T	c.(580-582)cgC>cgT	p.R194R	TEAD1_ENST00000334310.6_Silent_p.R198R|TEAD1_ENST00000527636.1_Silent_p.R209R|TEAD1_ENST00000526600.1_Silent_p.R113R|TEAD1_ENST00000361985.2_Silent_p.R209R|TEAD1_ENST00000527575.1_Silent_p.R209R	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	209	Pro-rich.|Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGCAAGGTCGCTCCATTGGCA	0.577													T	12904600	C	T	12904600	2	4	364	1	0	0	0	0	0	0	0	1	15838	784	28	2		2	TEAD1	11	12904600	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	12904600	122101916	8442	31944	80	2									
TEAD1	7003	broad.mit.edu	37	chr11	12923603	12923603	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgaaaagaaaggtggCttaaaggaactgtttggaaa	15	11	11	4	0	0	2	0	1	0	1	1	4	1	4	1	4	1	2	1	4	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923603C>A	ENST00000361905.4	+	10	1436	c.771C>A	c.(769-771)ggC>ggA	p.G257G	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Silent_p.G272G|TEAD1_ENST00000526600.1_Silent_p.G176G|TEAD1_ENST00000361985.2_Silent_p.G272G|TEAD1_ENST00000527575.1_Intron	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	272	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		AGAAAGGTGGCTTAAAGGAAC	0.423													A	12923603	C	A	12923603	2	1	364	1	0	0	0	0	0	0	0	1	15838	784	28	4		4	TEAD1	11	12923603	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19003	12923603	122082913	8443	31945											
TEAD1	7003	broad.mit.edu	37	chr11	12923629	12923629	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactgtttggaaagggccCtcaaaatgccttcttcctcg	9	11	10	11	1	2	0	1	0	1	0	4	2	3	2	3	3	2	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:12923629C>A	ENST00000361905.4	+	10	1462	c.797C>A	c.(796-798)cCt>cAt	p.P266H	TEAD1_ENST00000334310.6_Intron|TEAD1_ENST00000527636.1_Missense_Mutation_p.P281H|TEAD1_ENST00000526600.1_Missense_Mutation_p.P185H|TEAD1_ENST00000361985.2_Missense_Mutation_p.P281H|TEAD1_ENST00000527575.1_Intron	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	281	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GGAAAGGGCCCTCAAAATGCC	0.413													A	12923629	C	A	12923629	3	1	364	1	0	0	0	0	1	0	0	0	15838	681	24	4	872	4	TEAD1	11	12923629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26	12923629	122082887	8444	31946											
BTBD10	84280	broad.mit.edu	37	chr11	13424821	13424821	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatataattttgtgctataAataactagaaacaaaaagaa	21	12	4	4	0	0	2	0	0	0	2	0	2	0	2	0	0	3	1	0	0	12	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13424821A>C	ENST00000278174.5	-	8	1256	c.1011T>G	c.(1009-1011)atT>atG	p.I337M	BTBD10_ENST00000528120.1_Missense_Mutation_p.I289M|BTBD10_ENST00000530907.1_Missense_Mutation_p.I345M	NM_032320.5	NP_115696.2	Q9BSF8	BTBDA_HUMAN	BTB (POZ) domain containing 10	337						nucleus				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|prostate(1)	20				Epithelial(150;0.0214)		TTGTGCTATAAATAACTAGAA	0.294													C	13424821	A	C	13424821	3	2	364	1	0	0	0	0	1	0	0	0	1547	10	1	5	424	5	BTBD10	11	13424821	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	501192	13424821	121581695	8445	31947											
PTH	5741	broad.mit.edu	37	chr11	13514211	13514211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatttcactcacagatctcTtcctgggaagaagagaaaca	14	10	8	9	0	3	3	2	0	1	3	5	5	4	4	1	1	1	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13514211T>G	ENST00000282091.1	-	3	203	c.89A>C	c.(88-90)aAg>aCg	p.K30T	PTH_ENST00000529816.1_Missense_Mutation_p.K30T	NM_000315.2	NP_000306.1	P01270	PTHY_HUMAN	parathyroid hormone	30					bone resorption|cAMP metabolic process|cell-cell signaling|cellular calcium ion homeostasis|cellular macromolecule biosynthetic process|induction of apoptosis by hormones|positive regulation of cAMP biosynthetic process|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|skeletal system development		hormone activity|peptide hormone receptor binding			endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	10				BRCA - Breast invasive adenocarcinoma(625;0.00116)|Epithelial(150;0.0357)|LUSC - Lung squamous cell carcinoma(625;0.0836)		CACAGATCTCTTCCTGGGAAG	0.438													G	13514211	T	G	13514211	3	3	364	1	0	0	0	0	1	0	0	0	12843	1609	56	5	262	5	PTH	11	13514211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89390	13514211	121492305	8446	31948											
FAR1	84188	broad.mit.edu	37	chr11	13743357	13743357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taattcttgggtttggaataCtgagaatgtcaatatgttaa	13	16	9	3	0	2	1	1	1	1	1	2	3	2	2	0	2	1	2	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:13743357C>T	ENST00000532502.1	+	1	1908	c.80C>T	c.(79-81)aCt>aTt	p.T27I	FAR1_ENST00000354817.3_Missense_Mutation_p.T403I			Q8WVX9	FACR1_HUMAN	fatty acyl CoA reductase 1	403					ether lipid biosynthetic process	integral to membrane|peroxisomal matrix|peroxisomal membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13						GTTTGGAATACTGAGAATGTC	0.294													T	13743357	C	T	13743357	3	4	364	1	0	0	0	0	1	0	0	0	5723	565	20	2	1242	2	FAR1	11	13743357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229146	13743357	121263159	8447	31949											
COPB1	1315	broad.mit.edu	37	chr11	14490987	14490987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaggtgaacattcagaCaagaccttgaggcacaggga	16	7	11	7	0	1	4	1	2	0	2	1	5	1	5	1	3	1	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14490987C>G	ENST00000249923.3	-	15	2160	c.1860G>C	c.(1858-1860)ttG>ttC	p.L620F	COPB1_ENST00000439561.2_Missense_Mutation_p.L620F	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	620					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AACATTCAGACAAGACCTTGA	0.398													G	14490987	C	G	14490987	3	3	364	1	0	0	0	0	1	0	0	0	3759	477	17	4	1033	4	COPB1	11	14490987	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	747630	14490987	120515529	8448	31950											
PSMA1	5682	broad.mit.edu	37	chr11	14529285	14529285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagattgtaaactccaagtCtttaccaacaattccaatgg	15	12	5	9	0	1	1	0	0	1	1	3	1	3	1	3	1	3	1	3	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14529285C>A	ENST00000530457.1	-	9	1107	c.577G>T	c.(577-579)Gac>Tac	p.D193Y	PSMA1_ENST00000418988.2_Missense_Mutation_p.D224Y|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000396394.2_Missense_Mutation_p.D218Y|PSMA1_ENST00000524606.1_5'UTR|PSMA1_ENST00000555531.1_3'UTR|PSMA1_ENST00000396393.1_Missense_Mutation_p.D218Y			P25786	PSA1_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 1	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|polysome|proteasome core complex, alpha-subunit complex	protein binding|RNA binding|threonine-type endopeptidase activity			large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	3						AACTCCAAGTCTTTACCAACA	0.333													A	14529285	C	A	14529285	3	1	364	1	0	0	0	0	1	0	0	0	12751	913	32	4	147	4	PSMA1	11	14529285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38298	14529285	120477231	8449	31951											
PDE3B	5140	broad.mit.edu	37	chr11	14852272	14852272	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaacattttctcgaaagaAtcattcaaacttatggaaac	18	11	5	7	1	3	1	2	0	1	1	4	4	3	2	0	1	3	0	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14852272A>G	ENST00000282096.4	+	8	2189	c.1836A>G	c.(1834-1836)gaA>gaG	p.E612E	PDE3B_ENST00000455098.2_Silent_p.E561E	NM_000922.3	NP_000913.2	Q13370	PDE3B_HUMAN	phosphodiesterase 3B, cGMP-inhibited	612					cAMP catabolic process|insulin receptor signaling pathway|negative regulation of lipid catabolic process|platelet activation	cytosol|endoplasmic reticulum|Golgi apparatus|guanyl-nucleotide exchange factor complex|integral to membrane|microsome	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding|protein kinase B binding			NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TCTCGAAAGAATCATTCAAAC	0.318													G	14852272	A	G	14852272	2	3	364	1	0	0	0	0	0	0	0	1	11714	98	4	3		3	PDE3B	11	14852272	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	322987	14852272	120154244	8450	31952											
CALCA	796	broad.mit.edu	37	chr11	14990358	14990358	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtttagttggcattcTggggcatgctaacatgaggg	9	11	16	5	0	1	1	0	1	1	0	1	3	1	2	0	5	2	5	0	5	2	5	rs13306224	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:14990358T>C	ENST00000331587.4	-	4	531	c.413A>G	c.(412-414)cAg>cGg	p.Q138R	CALCA_ENST00000486207.1_Intron|CALCA_ENST00000361010.3_Intron|CALCA_ENST00000396372.2_Missense_Mutation_p.Q138R|CALCA_ENST00000359642.3_Intron|CALCB_ENST00000523376.1_Intron	NM_001741.2	NP_001732.1	P06881	CALCA_HUMAN	calcitonin-related polypeptide alpha	0					activation of adenylate cyclase activity|cell-cell signaling|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|endothelial cell migration|endothelial cell proliferation|leukocyte cell-cell adhesion|negative regulation of blood pressure|negative regulation of bone resorption|negative regulation of calcium ion transport into cytosol|negative regulation of osteoclast differentiation|neurological system process involved in regulation of systemic arterial blood pressure|positive regulation of interleukin-1 alpha production|positive regulation of interleukin-8 production|positive regulation of macrophage differentiation|positive regulation of vasodilation|regulation of blood pressure|vasculature development|vasodilation	cytosol|extracellular space	hormone activity			central_nervous_system(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	8					Phentolamine(DB00692)	GTTGGCATTCTGGGGCATGCT	0.493													C	14990358	T	C	14990358	3	2	364	1	0	0	0	0	1	0	0	0	2601	1580	55	3	180	3	CALCA	11	14990358	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	138086	14990358	120016158	8451	31953											
CALCB	797	broad.mit.edu	37	chr11	15098968	15098968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaagcctttggcaggCgccgcagggaccttcaagcc	8	7	12	14	2	1	0	1	0	0	0	2	1	2	1	5	3	2	3	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15098968C>T	ENST00000523376.1	+	9	1656	c.394C>T	c.(394-396)Cgc>Tgc	p.R132C	CALCB_ENST00000324229.6_Missense_Mutation_p.R121C|CALCB_ENST00000533448.1_Missense_Mutation_p.R121C			P10092	CALCB_HUMAN	calcitonin-related polypeptide beta	121					cellular calcium ion homeostasis|signal transduction|vasodilation	extracellular region|soluble fraction	neuropeptide hormone activity			endometrium(1)|large_intestine(1)|lung(1)|skin(2)	5						CTTTGGCAGGCGCCGCAGGGA	0.542													T	15098968	C	T	15098968	3	4	364	1	0	0	0	0	1	0	0	0	2602	768	27	1	371	1	CALCB	11	15098968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108610	15098968	119907548	8452	31954											
INSC	387755	broad.mit.edu	37	chr11	15170751	15170751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcctggaggtcgccacctgGactccgtcaccctgccgggt	4	8	13	16	3	1	0	1	0	0	0	3	2	2	2	6	4	2	0	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:15170751G>A	ENST00000379554.3	+	2	218	c.172G>A	c.(172-174)Gac>Aac	p.D58N	INSC_ENST00000379556.3_Missense_Mutation_p.D11N|INSC_ENST00000530161.1_Missense_Mutation_p.D11N|INSC_ENST00000525218.1_Missense_Mutation_p.D11N|INSC_ENST00000528567.1_Missense_Mutation_p.D11N|INSC_ENST00000424273.1_Missense_Mutation_p.D11N	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	58					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TCGCCACCTGGACTCCGTCAC	0.607													A	15170751	G	A	15170751	3	1	364	1	0	0	0	0	1	0	0	0	7822	1174	41	2	178	2	INSC	11	15170751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71783	15170751	119835765	8453	31955											
SOX6	55553	broad.mit.edu	37	chr11	16007927	16007927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgctcttcataataaGgttgcttctcctggttggac	6	14	11	10	0	3	0	1	0	2	0	4	1	3	1	2	4	2	4	2	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16007927G>T	ENST00000352083.6	-	15	2083	c.2006C>A	c.(2005-2007)cCt>cAt	p.P669H	SOX6_ENST00000528429.1_Missense_Mutation_p.P669H|SOX6_ENST00000527619.1_Missense_Mutation_p.P645H|SOX6_ENST00000316399.6_Missense_Mutation_p.P649H|SOX6_ENST00000396356.3_Missense_Mutation_p.P649H|SOX6_ENST00000528252.1_Missense_Mutation_p.P642H			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	669					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						TTCATAATAAGGTTGCTTCTC	0.443													T	16007927	G	T	16007927	3	4	364	1	0	0	0	0	1	0	0	0	15049	1000	35	4	488	4	SOX6	11	16007927	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	837176	16007927	118998589	8454	31956											
SOX6	55553	broad.mit.edu	37	chr11	16340160	16340160	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggtagaggtatttcGgaaggaatatagggaacata	14	10	15	2	1	0	2	0	1	0	1	1	5	0	5	0	6	1	2	0	6	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16340160G>A	ENST00000352083.6	-	3	354	c.277C>T	c.(277-279)Cga>Tga	p.R93*	SOX6_ENST00000528429.1_Nonsense_Mutation_p.R93*|SOX6_ENST00000527619.1_Nonsense_Mutation_p.R96*|SOX6_ENST00000316399.6_Nonsense_Mutation_p.R93*|SOX6_ENST00000396356.3_Nonsense_Mutation_p.R93*|SOX6_ENST00000533658.1_5'UTR|SOX6_ENST00000528252.1_Nonsense_Mutation_p.R93*			P35712	SOX6_HUMAN	SRY (sex determining region Y)-box 6	93					muscle organ development	nucleus	sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|pancreas(1)|prostate(2)	43						GAGGTATTTCGGAAGGAATAT	0.408													A	16340160	G	A	16340160	4	1	364	1	0	0	0	0	0	1	0	0	15049	1124	39	1	2307	1	SOX6	11	16340160	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	332233	16340160	118666356	8455	31957											
PLEKHA7	144100	broad.mit.edu	37	chr11	16837804	16837804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagcgtcggtccacatgaGatgagttctgcaagtgggga	9	9	16	7	2	1	2	0	2	1	1	3	5	2	4	1	4	2	2	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16837804G>A	ENST00000355661.3	-	12	1884	c.1874C>T	c.(1873-1875)tCt>tTt	p.S625F	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.S625F|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.S625F			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	625	Interaction with CTNND1.				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTCCACATGAGATGAGTTCTG	0.567													A	16837804	G	A	16837804	3	1	364	1	0	0	0	0	1	0	0	0	12138	942	33	2	1539	2	PLEKHA7	11	16837804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	497644	16837804	118168712	8456	31958											
PLEKHA7	144100	broad.mit.edu	37	chr11	16838749	16838749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtcacttggcaggtttcgGggaggtggcgaggagccccc	6	8	17	10	2	1	0	1	0	0	0	2	3	1	2	2	7	1	2	2	7	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:16838749G>A	ENST00000355661.3	-	11	1474	c.1464C>T	c.(1462-1464)ccC>ccT	p.P488P	PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Silent_p.P488P|PLEKHA7_ENST00000531066.1_Silent_p.P488P			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	488					epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GCAGGTTTCGGGGAGGTGGCG	0.637													A	16838749	G	A	16838749	2	1	364	1	0	0	0	0	0	0	0	1	12138	1219	43	2		2	PLEKHA7	11	16838749	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	945	16838749	118167767	8457	31959											
PIK3C2A	5286	broad.mit.edu	37	chr11	17113777	17113777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaattttccttttggctgCtacatcttttatgtgtgttc	5	21	6	9	0	2	0	1	0	1	0	4	0	3	0	1	1	2	3	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17113777C>T	ENST00000265970.7	-	28	4497	c.4498G>A	c.(4498-4500)Gca>Aca	p.A1500T	PIK3C2A_ENST00000531428.1_5'UTR|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.A1120T	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1500	PX.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	CTTTTGGCTGCTACATCTTTT	0.323													T	17113777	C	T	17113777	3	4	364	1	0	0	0	0	1	0	0	0	11986	797	28	2	582	2	PIK3C2A	11	17113777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275028	17113777	117892739	8458	31960											
PIK3C2A	5286	broad.mit.edu	37	chr11	17122851	17122851	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaggttaagaaaaaggtTtgtctgctttcttatcaagt	13	14	10	4	0	3	1	1	0	2	1	3	2	3	2	0	3	1	3	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17122851T>G	ENST00000265970.7	-	24	3981	c.3982A>C	c.(3982-3984)Aac>Cac	p.N1328H	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Missense_Mutation_p.N948H	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	1328	PI3K/PI4K.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AGAAAAAGGTTTGTCTGCTTT	0.338													G	17122851	T	G	17122851	3	3	364	1	0	0	0	0	1	0	0	0	11986	1841	64	5	1114	5	PIK3C2A	11	17122851	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9074	17122851	117883665	8459	31961											
PIK3C2A	5286	broad.mit.edu	37	chr11	17158125	17158125	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccatctaaagcactacaGatttttcttacagctttaat	14	14	3	10	0	2	1	0	0	2	1	2	1	2	1	1	0	4	2	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17158125G>T	ENST00000265970.7	-	8	1751	c.1752C>A	c.(1750-1752)atC>atA	p.I584I	PIK3C2A_ENST00000531428.1_Intron|PIK3C2A_ENST00000540361.1_Silent_p.I204I	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	584					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	AAGCACTACAGATTTTTCTTA	0.333													T	17158125	G	T	17158125	2	4	364	1	0	0	0	0	0	0	0	1	11986	932	33	4		4	PIK3C2A	11	17158125	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35274	17158125	117848391	8460	31962											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190742	17190742	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacttaaatatataggttCtgtagatggaaaagtgggca	16	11	11	3	0	1	2	0	0	1	2	1	3	1	3	0	3	0	3	0	3	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190742C>A	ENST00000265970.7	-	1	546	c.547G>T	c.(547-549)Gaa>Taa	p.E183*	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	183					cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TATATAGGTTCTGTAGATGGA	0.398													A	17190742	C	A	17190742	4	1	364	1	0	0	0	0	0	1	0	0	11986	922	32	4	4641	4	PIK3C2A	11	17190742	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32617	17190742	117815774	8461	31963											
PIK3C2A	5286	broad.mit.edu	37	chr11	17190992	17190992	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagcaatagtttctcaagTtcagcttgggtgagcttttc	8	15	9	9	0	2	1	2	1	1	0	5	1	3	1	1	1	3	5	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17190992T>C	ENST00000265970.7	-	1	296	c.297A>G	c.(295-297)gaA>gaG	p.E99E	PIK3C2A_ENST00000540361.1_Intron|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha	99	Interaction with clathrin.				cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	GTTTCTCAAGTTCAGCTTGGG	0.383													C	17190992	T	C	17190992	2	2	364	1	0	0	0	0	0	0	0	1	11986	1722	60	3		3	PIK3C2A	11	17190992	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	250	17190992	117815524	8462	31964											
NUCB2	4925	broad.mit.edu	37	chr11	17317743	17317743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagctccagaaagcagaCatagaggaaataaaggtaaa	22	4	10	5	0	0	3	0	0	0	3	1	5	1	4	1	2	2	3	1	2	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17317743C>T	ENST00000529010.1	+	4	456	c.237C>T	c.(235-237)gaC>gaT	p.D79D	NUCB2_ENST00000323688.6_Silent_p.D79D|NUCB2_ENST00000458064.2_Silent_p.D79D	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	79						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGAAAGCAGACATAGAGGAAA	0.308													T	17317743	C	T	17317743	2	4	364	1	0	0	0	0	0	0	0	1	10795	477	17	2		2	NUCB2	11	17317743	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	126751	17317743	117688773	8463	31965											
NUCB2	4925	broad.mit.edu	37	chr11	17323300	17323300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgttaacagagtgggaggCtaagcaaagaactggattta	14	11	12	4	0	0	2	0	0	0	2	0	4	0	4	0	3	3	3	0	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17323300C>T	ENST00000529010.1	+	5	481	c.262C>T	c.(262-264)Cta>Tta	p.L88L	NUCB2_ENST00000323688.6_Silent_p.L88L|NUCB2_ENST00000458064.2_Silent_p.L88L	NM_005013.2	NP_005004	P80303	NUCB2_HUMAN	nucleobindin 2	88						cytosol|ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|plasma membrane	calcium ion binding|DNA binding			kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						GAGTGGGAGGCTAAGCAAAGA	0.323													T	17323300	C	T	17323300	2	4	364	1	0	0	0	0	0	0	0	1	10795	796	28	2		2	NUCB2	11	17323300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5557	17323300	117683216	8464	31966											
KCNJ11	3767	broad.mit.edu	37	chr11	17409205	17409205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgatgaggatcaggatgGccagtgggcactcctcagtc	9	7	14	11	1	2	1	2	1	0	0	4	4	3	3	2	4	0	2	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17409205G>T	ENST00000339994.4	-	1	1001	c.434C>A	c.(433-435)gCc>gAc	p.A145D	KCNJ11_ENST00000528731.1_Missense_Mutation_p.A58D	NM_000525.3	NP_000516.3	B4DWI4	B4DWI4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 11	58						integral to membrane	ATP-activated inward rectifier potassium channel activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(3)|skin(2)	16				READ - Rectum adenocarcinoma(2;0.0276)|Colorectal(2;0.0633)		GATCAGGATGGCCAGTGGGCA	0.562											OREG0020810	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	17409205	G	T	17409205	3	4	364	1	0	0	0	0	1	0	0	0	8103	1203	42	4	742	4	KCNJ11	11	17409205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85905	17409205	117597311	8465	31967											
ABCC8	6833	broad.mit.edu	37	chr11	17414591	17414591	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtccttccggctgagcaGcttctctggcttatcgaact	5	13	10	13	2	1	1	0	1	1	0	5	2	3	1	2	2	3	5	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17414591G>T	ENST00000302539.4	-	39	4821	c.4696C>A	c.(4696-4698)Ctg>Atg	p.L1566M	ABCC8_ENST00000389817.3_Missense_Mutation_p.L1565M	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	1565	ABC transporter 2.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CGGCTGAGCAGCTTCTCTGGC	0.607													T	17414591	G	T	17414591	3	4	364	1	0	0	0	0	1	0	0	0	58	962	34	4	56	4	ABCC8	11	17414591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5386	17414591	117591925	8466	31968											
ABCC8	6833	broad.mit.edu	37	chr11	17429002	17429003	+	Splice_Site	INS	-	-	A																															tctctctgtgacagtctcctINSaaaagacagatgtggcctgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17429002_17429003insA	ENST00000302539.4	-	24	2949		c.e24-2		ABCC8_ENST00000389817.3_Splice_Site	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8						carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	GACAGTCTCCTAAAAGACAGAT	0.52													A	17429003	-	A	17429002	8	5	364	1	0	1	1	0	0	0	1	0	58	1536	53	0	1990	0	ABCC8	11	17429002	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	14411	17429002	117577514	8467	31969											
ABCC8	6833	broad.mit.edu	37	chr11	17452370	17452370	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcccctcacctcactagaGctttgacggtagatcggacc	8	9	8	16	2	2	3	2	1	0	2	4	4	3	4	5	2	1	2	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17452370G>T	ENST00000302539.4	-	12	1933	c.1808C>A	c.(1807-1809)gCt>gAt	p.A603D	ABCC8_ENST00000528202.1_5'UTR|ABCC8_ENST00000389817.3_Missense_Mutation_p.A603D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	603					carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CCTCACTAGAGCTTTGACGGT	0.602													T	17452370	G	T	17452370	3	4	364	1	0	0	0	0	1	0	0	0	58	971	34	4	3049	4	ABCC8	11	17452370	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23368	17452370	117554146	8468	31970											
ABCC8	6833	broad.mit.edu	37	chr11	17464855	17464855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggagaatcacacccacaAtgatctgaggaaggggtcat	15	6	12	8	0	3	4	2	2	1	2	3	6	3	5	1	4	0	0	1	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17464855A>G	ENST00000302539.4	-	9	1462	c.1337T>C	c.(1336-1338)aTt>aCt	p.I446T	ABCC8_ENST00000389817.3_Missense_Mutation_p.I446T	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	446	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	CACACCCACAATGATCTGAGG	0.542													G	17464855	A	G	17464855	3	3	364	1	0	0	0	0	1	0	0	0	58	101	4	3	3532	3	ABCC8	11	17464855	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12485	17464855	117541661	8469	31971											
ABCC8	6833	broad.mit.edu	37	chr11	17470208	17470208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggtgcataattttattgTaaatcttggtctagaaatga	14	15	8	4	0	2	2	0	1	2	1	2	2	2	2	0	2	1	2	0	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17470208T>C	ENST00000302539.4	-	8	1312	c.1187A>G	c.(1186-1188)tAc>tGc	p.Y396C	ABCC8_ENST00000389817.3_Missense_Mutation_p.Y396C	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	396	ABC transmembrane type-1 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AATTTTATTGTAAATCTTGGT	0.458													C	17470208	T	C	17470208	3	2	364	1	0	0	0	0	1	0	0	0	58	1638	57	3	3686	3	ABCC8	11	17470208	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5353	17470208	117536308	8470	31972											
USH1C	10083	broad.mit.edu	37	chr11	17544785	17544785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctacaatggagatggtcagGctgcggctactcttcagcac	9	9	12	11	1	3	1	2	0	1	1	3	2	3	1	0	4	4	4	0	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17544785G>A	ENST00000005226.7	-	11	848	c.849C>T	c.(847-849)agC>agT	p.S283S	USH1C_ENST00000527720.1_Silent_p.S252S|USH1C_ENST00000318024.4_Silent_p.S283S|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	283	PDZ 2.				equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGATGGTCAGGCTGCGGCTAC	0.582													A	17544785	G	A	17544785	2	1	364	1	0	0	0	0	0	0	0	1	17136	1194	42	2		2	USH1C	11	17544785	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74577	17544785	117461731	8471	31973											
KCNC1	3746	broad.mit.edu	37	chr11	17793591	17793591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgtcgtccgcttcgtgcGcatcttgcgcatctttaagc	4	12	11	14	7	2	0	0	0	2	0	5	0	3	0	1	0	3	3	1	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:17793591G>A	ENST00000379472.3	+	2	980	c.950G>A	c.(949-951)cGc>cAc	p.R317H	KCNC1_ENST00000265969.6_Missense_Mutation_p.R317H	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	317						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.R317H(2)		breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CGCTTCGTGCGCATCTTGCGC	0.647													A	17793591	G	A	17793591	3	1	364	1	0	0	0	0	1	0	0	0	8072	1087	38	1	956	1	KCNC1	11	17793591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248806	17793591	117212925	8472	31974											
TPH1	7166	broad.mit.edu	37	chr11	18042548	18042548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctactgttagatactcGgcttcctgctgaccttagca	7	13	9	12	1	0	2	0	1	0	1	2	2	1	2	2	2	4	5	2	2	4	5	rs147642427		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18042548G>A	ENST00000250018.2	-	10	1887	c.1325C>T	c.(1324-1326)cCg>cTg	p.P442L	RP1-59M18.2_ENST00000525523.1_RNA|TPH1_ENST00000341556.2_Intron	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	442					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	TTAGATACTCGGCTTCCTGCT	0.498													A	18042548	G	A	18042548	3	1	364	1	0	0	0	0	1	0	0	0	16502	1116	39	1	13	1	TPH1	11	18042548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248957	18042548	116963968	8473	31975											
TPH1	7166	broad.mit.edu	37	chr11	18054868	18054868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacatcagaactctgttggCacaatggtccaggtcagaaa	14	9	9	9	0	3	2	2	0	1	2	4	2	4	2	1	3	2	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18054868C>T	ENST00000250018.2	-	3	917	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	TPH1_ENST00000341556.2_Missense_Mutation_p.A119T	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	119					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	ACTCTGTTGGCACAATGGTCC	0.358													T	18054868	C	T	18054868	3	4	364	1	0	0	0	0	1	0	0	0	16502	710	25	2	1011	2	TPH1	11	18054868	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12320	18054868	116951648	8474	31976											
SAAL1	113174	broad.mit.edu	37	chr11	18110971	18110971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggtccagaggctgagcagCcccatttctgacccattcta	8	11	9	13	0	2	3	0	2	2	1	3	3	3	3	4	2	2	2	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18110971C>T	ENST00000524803.1	-	7	725	c.676G>A	c.(676-678)Gct>Act	p.A226T	SAAL1_ENST00000533851.1_5'UTR|SAAL1_ENST00000529318.1_Missense_Mutation_p.A226T|SAAL1_ENST00000300013.4_Missense_Mutation_p.A226T			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	226					acute-phase response	extracellular region	binding			breast(2)|large_intestine(5)|lung(8)	15						GGCTGAGCAGCCCCATTTCTG	0.493													T	18110971	C	T	18110971	3	4	364	1	0	0	0	0	1	0	0	0	13892	739	26	2	772	2	SAAL1	11	18110971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56103	18110971	116895545	8475	31977											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158969	18158969	+	Missense_Mutation	SNP	C	C	A																															acctggtcgcggccgacttcCtcttccttagcggccacatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158969C>A	ENST00000396275.2	+	3	581	c.220C>A	c.(220-222)Ctc>Atc	p.L74I		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						GGCCGACTTCCTCTTCCTTAG	0.562													A	18158969	C	A	18158969	3	1	364	1	0	0	0	0	1	0	0	0	9844	681	24	4	222	4	MRGPRX3	11	18158969	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47998	18158969	116847547	8476	31978	81	2									
MRGPRX3	117195	broad.mit.edu	37	chr11	18158979	18158979	+	Missense_Mutation	SNP	G	G	A																															ggccgacttcctcttccttaGcggccacattatatgttcgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18158979G>A	ENST00000396275.2	+	3	591	c.230G>A	c.(229-231)aGc>aAc	p.S77N		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	77						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTCTTCCTTAGCGGCCACATT	0.547													A	18158979	G	A	18158979	3	1	364	1	0	0	0	0	1	0	0	0	9844	971	34	2	232	2	MRGPRX3	11	18158979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	18158979	116847537	8477	31979	81	2									
MRGPRX3	117195	broad.mit.edu	37	chr11	18159368	18159368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggattctctgtggatccCggaagatgccgctgaccagg	8	9	13	11	2	2	2	1	1	1	1	4	5	3	5	3	4	1	1	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18159368C>T	ENST00000396275.2	+	3	980	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	207						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGTGGATCCCGGAAGATGCC	0.542													T	18159368	C	T	18159368	3	4	364	1	0	0	0	0	1	0	0	0	9844	643	23	1	621	1	MRGPRX3	11	18159368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389	18159368	116847148	8478	31980											
MRGPRX4	117196	broad.mit.edu	37	chr11	18194963	18194963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtgctctggctcctgggcTaccgcatgcgcaggaacgct	5	10	13	13	3	1	0	0	0	1	0	2	1	2	1	2	3	4	6	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18194963T>C	ENST00000314254.3	+	1	580	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	54			Y -> C (in dbSNP:rs1869788).			integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						GCTCCTGGGCTACCGCATGCG	0.552													C	18194963	T	C	18194963	3	2	364	1	0	0	0	0	1	0	0	0	9845	1522	53	3	162	3	MRGPRX4	11	18194963	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35595	18194963	116811553	8479	31981											
MRGPRX4	117196	broad.mit.edu	37	chr11	18195332	18195332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttggtgtgaaacgtcaGatttcatcccagtcgcgtgg	8	12	12	9	3	2	2	2	1	0	1	4	2	3	2	1	2	1	1	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18195332G>T	ENST00000314254.3	+	1	949	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	RP11-113D6.6_ENST00000527671.1_Intron	NM_054032.3	NP_473373.2	Q96LA9	MRGX4_HUMAN	MAS-related GPR, member X4	177						integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						TGAAACGTCAGATTTCATCCC	0.517													T	18195332	G	T	18195332	3	4	364	1	0	0	0	0	1	0	0	0	9845	942	33	4	531	4	MRGPRX4	11	18195332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369	18195332	116811184	8480	31982											
SAA2	6289	broad.mit.edu	37	chr11	18267006	18267006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttattggcagcctgatcgGccagcgagtcctccgcacca	8	9	10	14	3	0	1	0	1	0	0	3	2	2	1	5	2	2	2	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267006G>A	ENST00000526900.1	-	4	470	c.287C>T	c.(286-288)gCc>gTc	p.A96V	SAA2_ENST00000256733.4_Missense_Mutation_p.A96V|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.A96V|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						AGCCTGATCGGCCAGCGAGTC	0.557													A	18267006	G	A	18267006	3	1	364	1	0	0	0	0	1	0	0	0	13890	1203	42	2	111	2	SAA2	11	18267006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71674	18267006	116739510	8481	31983											
SAA2	6289	broad.mit.edu	37	chr11	18267031	18267031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtcctccgcaccacggcCtgtgagtctctggatattct	6	11	10	14	3	2	1	0	1	2	0	5	3	4	2	4	2	0	1	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18267031C>A	ENST00000526900.1	-	4	445	c.262G>T	c.(262-264)Ggc>Tgc	p.G88C	SAA2_ENST00000256733.4_Missense_Mutation_p.G88C|SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000529528.1_Missense_Mutation_p.G88C|SAA2_ENST00000528349.1_Intron|SAA2_ENST00000414546.2_Intron|SAA2_ENST00000530400.1_Intron					serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCACCACGGCCTGTGAGTCTC	0.567													A	18267031	C	A	18267031	3	1	364	1	0	0	0	0	1	0	0	0	13890	681	24	4	136	4	SAA2	11	18267031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25	18267031	116739485	8482	31984											
HPS5	11234	broad.mit.edu	37	chr11	18313021	18313021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataaaagtatcccaaacaGaagggctattactgtaacta	18	9	6	8	0	0	1	0	0	0	1	1	1	1	1	1	1	3	3	1	1	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313021G>T	ENST00000396253.3	-	15	2528	c.2066C>A	c.(2065-2067)tCt>tAt	p.S689Y	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.S803Y|HPS5_ENST00000438420.2_Missense_Mutation_p.S689Y	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	803						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						ATCCCAAACAGAAGGGCTATT	0.348									Hermansky-Pudlak syndrome				T	18313021	G	T	18313021	3	4	364	1	0	0	0	0	1	0	0	0	7397	942	33	4	1013	4	HPS5	11	18313021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45990	18313021	116693495	8483	31985											
HPS5	11234	broad.mit.edu	37	chr11	18313457	18313457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcagtatctgaaacacCtgaaaagtccttcatggcaa	13	11	8	9	0	3	2	2	2	1	0	4	2	4	2	2	1	1	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18313457C>A	ENST00000396253.3	-	15	2092	c.1630G>T	c.(1630-1632)Ggt>Tgt	p.G544C	HPS5_ENST00000352460.3_5'UTR|HPS5_ENST00000349215.3_Missense_Mutation_p.G658C|HPS5_ENST00000438420.2_Missense_Mutation_p.G544C	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	658						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						TCTGAAACACCTGAAAAGTCC	0.353									Hermansky-Pudlak syndrome				A	18313457	C	A	18313457	3	1	364	1	0	0	0	0	1	0	0	0	7397	681	24	4	1449	4	HPS5	11	18313457	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	436	18313457	116693059	8484	31986											
HPS5	11234	broad.mit.edu	37	chr11	18327847	18327847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccaggaaagaaacaagctCcatattctccatctctttcc	12	12	4	13	0	2	1	0	0	2	1	7	2	5	2	4	1	2	1	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18327847C>T	ENST00000396253.3	-	6	779	c.317G>A	c.(316-318)gGa>gAa	p.G106E	HPS5_ENST00000349215.3_Missense_Mutation_p.G220E|HPS5_ENST00000438420.2_Missense_Mutation_p.G106E|HPS5_ENST00000531848.1_Missense_Mutation_p.G106E	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	220						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GAAACAAGCTCCATATTCTCC	0.403									Hermansky-Pudlak syndrome				T	18327847	C	T	18327847	3	4	364	1	0	0	0	0	1	0	0	0	7397	855	30	2	2798	2	HPS5	11	18327847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14390	18327847	116678669	8485	31987											
GTF2H1	2965	broad.mit.edu	37	chr11	18379514	18379514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaggttctctcaagtagtGctgccagtagtaccatcaca	10	12	8	11	0	4	0	3	0	1	0	5	0	4	0	2	1	3	5	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18379514G>A	ENST00000265963.4	+	12	1436	c.1276G>A	c.(1276-1278)Gct>Act	p.A426T	GTF2H1_ENST00000534641.1_Missense_Mutation_p.A310T|GTF2H1_ENST00000530496.2_Missense_Mutation_p.A114T|GTF2H1_ENST00000453096.2_Missense_Mutation_p.A426T|GTF2H1_ENST00000526630.2_Missense_Mutation_p.A16T	NM_005316.3	NP_005307.1	P32780	TF2H1_HUMAN	general transcription factor IIH, polypeptide 1, 62kDa	426					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	20						CTCAAGTAGTGCTGCCAGTAG	0.428								Nucleotide excision repair (NER)					A	18379514	G	A	18379514	3	1	364	1	0	0	0	0	1	0	0	0	6915	1319	46	2	1318	2	GTF2H1	11	18379514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51667	18379514	116627002	8486	31988											
IGSF22	283284	broad.mit.edu	37	chr11	18735622	18735622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggaccttgatgtgggcCgtgtggcctaccttcacagt	7	10	14	10	1	1	1	1	1	0	0	1	2	1	2	4	4	1	0	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735622C>T	ENST00000513874.1	-	14	2011	c.1872G>A	c.(1870-1872)acG>acA	p.T624T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	624	Ig-like 4.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGATGTGGGCCGTGTGGCCTA	0.617													T	18735622	C	T	18735622	2	4	364	1	0	0	0	0	0	0	0	1	7658	639	23	1		1	IGSF22	11	18735622	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	356108	18735622	116270894	8487	31989											
IGSF22	283284	broad.mit.edu	37	chr11	18735840	18735840	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atacctgcgatgaatacagaGgcttcactttccgtgccctt	9	12	8	12	2	1	2	1	1	0	1	2	3	2	2	3	1	4	1	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18735840G>T	ENST00000513874.1	-	13	1921	c.1782C>A	c.(1780-1782)gcC>gcA	p.A594A	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	594										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TGAATACAGAGGCTTCACTTT	0.572													T	18735840	G	T	18735840	2	4	364	1	0	0	0	0	0	0	0	1	7658	987	35	4		4	IGSF22	11	18735840	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218	18735840	116270676	8488	31990											
IGSF22	283284	broad.mit.edu	37	chr11	18736140	18736140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggccgcgtgcacgtcGgacatcccgctcttcactgt	5	9	11	16	5	2	0	1	0	1	0	4	1	3	1	3	2	1	2	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18736140G>A	ENST00000513874.1	-	12	1702	c.1563C>T	c.(1561-1563)tcC>tcT	p.S521S	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	521										NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CGTGCACGTCGGACATCCCGC	0.602													A	18736140	G	A	18736140	2	1	364	1	0	0	0	0	0	0	0	1	7658	1103	39	1		1	IGSF22	11	18736140	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	18736140	116270376	8489	31991											
IGSF22	283284	broad.mit.edu	37	chr11	18737093	18737093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctcaatgatcagctctgCtcgcttgccctcatggttca	7	13	7	14	1	5	1	4	1	1	0	7	1	6	1	2	1	3	4	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18737093C>T	ENST00000513874.1	-	11	1556	c.1417G>A	c.(1417-1419)Gca>Aca	p.A473T	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	473	Ig-like 3.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						ATCAGCTCTGCTCGCTTGCCC	0.532													T	18737093	C	T	18737093	3	4	364	1	0	0	0	0	1	0	0	0	7658	797	28	2	2615	2	IGSF22	11	18737093	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	953	18737093	116269423	8490	31992											
IGSF22	283284	broad.mit.edu	37	chr11	18741651	18741651	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccattttctcttgacCtgaggatagacagagggaca	12	10	11	8	0	1	4	0	2	1	2	3	7	2	6	2	2	0	0	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18741651C>A	ENST00000513874.1	-	6	618		c.e6-1		RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22											NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						TTCTCTTGACCTGAGGATAGA	0.517													A	18741651	C	A	18741651	5	1	364	1	0	0	0	0	0	0	1	0	7658	695	24	4	3574	4	IGSF22	11	18741651	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4558	18741651	116264865	8491	31993											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956162	18956162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggagaaggcgttcctgCgcatgcggcagcccaggagc	9	5	16	11	3	0	2	0	0	0	2	1	4	1	3	2	4	4	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:18956162C>T	ENST00000302797.3	-	1	394	c.170G>A	c.(169-171)cGc>cAc	p.R57H	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	57					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGTTCCTGCGCATGCGGCA	0.557													T	18956162	C	T	18956162	3	4	364	1	0	0	0	0	1	0	0	0	9842	768	27	1	802	1	MRGPRX1	11	18956162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	214511	18956162	116050354	8492	31994											
ZDHHC13	54503	broad.mit.edu	37	chr11	19167744	19167744	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagatacggaatttttgaaCgatgtaaagagttggtagaa	15	12	12	2	2	0	4	0	2	0	3	0	7	0	5	0	2	2	3	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19167744C>T	ENST00000446113.2	+	3	311	c.190C>T	c.(190-192)Cga>Tga	p.R64*	ZDHHC13_ENST00000399351.3_5'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	64					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AATTTTTGAACGATGTAAAGA	0.313													T	19167744	C	T	19167744	4	4	364	1	0	0	0	0	0	1	0	0	17704	528	19	1	200	1	ZDHHC13	11	19167744	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211582	19167744	115838772	8493	31995											
ZDHHC13	54503	broad.mit.edu	37	chr11	19173709	19173709	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattattttgagacaggccaGaaccaactggatttctttta	12	15	7	7	0	1	2	0	1	1	2	1	4	1	3	2	2	2	0	2	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19173709G>T	ENST00000446113.2	+	7	710	c.589G>T	c.(589-591)Gaa>Taa	p.E197*	ZDHHC13_ENST00000399351.3_Nonsense_Mutation_p.E67*|ZDHHC13_ENST00000532812.1_3'UTR	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	197					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						AGACAGGCCAGAACCAACTGG	0.348													T	19173709	G	T	19173709	4	4	364	1	0	0	0	0	0	1	0	0	17704	943	33	4	615	4	ZDHHC13	11	19173709	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5965	19173709	115832807	8494	31996											
E2F8	79733	broad.mit.edu	37	chr11	19246308	19246308	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatccatgcaggatgagctgGttggcttggtgggtccacct	7	11	14	9	0	0	1	0	1	0	0	2	2	2	2	3	5	2	4	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19246308G>A	ENST00000527884.1	-	13	2733	c.2501C>T	c.(2500-2502)aCc>aTc	p.T834I	E2F8_ENST00000250024.4_Missense_Mutation_p.T834I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	834					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GGATGAGCTGGTTGGCTTGGT	0.488													A	19246308	G	A	19246308	3	1	364	1	0	0	0	0	1	0	0	0	4912	1261	44	2	106	2	E2F8	11	19246308	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72599	19246308	115760208	8495	31997											
E2F8	79733	broad.mit.edu	37	chr11	19247037	19247037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggtggcttgaagcgaGagccgggctgttcccgacag	9	6	16	10	3	0	2	0	1	0	1	1	4	1	2	2	3	3	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19247037G>T	ENST00000527884.1	-	12	2384	c.2152C>A	c.(2152-2154)Ctc>Atc	p.L718I	E2F8_ENST00000250024.4_Missense_Mutation_p.L718I|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	718					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CTTGAAGCGAGAGCCGGGCTG	0.527													T	19247037	G	T	19247037	3	4	364	1	0	0	0	0	1	0	0	0	4912	942	33	4	459	4	E2F8	11	19247037	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	729	19247037	115759479	8496	31998											
E2F8	79733	broad.mit.edu	37	chr11	19256341	19256341	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaacacatgtctgggtgtCcatttgggccagtgtttgat	9	13	11	8	0	1	1	0	1	1	0	2	1	2	1	2	2	1	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19256341C>A	ENST00000527884.1	-	5	948	c.716G>T	c.(715-717)gGa>gTa	p.G239V	E2F8_ENST00000250024.4_Missense_Mutation_p.G239V|RP11-428C19.4_ENST00000527978.1_RNA	NM_001256371.1|NM_001256372.1	NP_001243300.1|NP_001243301.1	A0AVK6	E2F8_HUMAN	E2F transcription factor 8	239					cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GTCTGGGTGTCCATTTGGGCC	0.418													A	19256341	C	A	19256341	3	1	364	1	0	0	0	0	1	0	0	0	4912	855	30	4	1923	4	E2F8	11	19256341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9304	19256341	115750175	8497	31999											
NAV2	89797	broad.mit.edu	37	chr11	19954923	19954923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgctctcggtcaagcCtcctgggcctgaggccccca	6	8	10	17	1	2	1	1	1	1	0	5	1	4	1	6	3	2	1	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:19954923C>A	ENST00000396085.1	+	7	1494	c.1133C>A	c.(1132-1134)cCt>cAt	p.P378H	NAV2_ENST00000396087.3_Missense_Mutation_p.P401H|NAV2_ENST00000349880.4_Missense_Mutation_p.P378H|NAV2_ENST00000360655.4_Missense_Mutation_p.P314H|NAV2_ENST00000540292.1_Missense_Mutation_p.P332H|NAV2_ENST00000527559.2_Missense_Mutation_p.P330H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	401						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TCGGTCAAGCCTCCTGGGCCT	0.597													A	19954923	C	A	19954923	3	1	364	1	0	0	0	0	1	0	0	0	10260	681	24	4	1238	4	NAV2	11	19954923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	698582	19954923	115051593	8498	32000											
NAV2	89797	broad.mit.edu	37	chr11	20122653	20122653	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctgagtatatagtgcttCgagagggacgggagttgaca	10	11	15	5	2	1	3	0	2	1	1	2	6	1	5	0	2	1	3	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20122653C>T	ENST00000396085.1	+	33	6722	c.6361C>T	c.(6361-6363)Cga>Tga	p.R2121*	NAV2_ENST00000396087.3_Nonsense_Mutation_p.R2177*|NAV2_ENST00000349880.4_Nonsense_Mutation_p.R2118*|NAV2_ENST00000360655.4_Nonsense_Mutation_p.R2054*|NAV2_ENST00000540292.1_Nonsense_Mutation_p.R2108*|NAV2_ENST00000527559.2_Nonsense_Mutation_p.R2106*|NAV2_ENST00000311043.8_Nonsense_Mutation_p.R1182*|NAV2_ENST00000533917.1_Nonsense_Mutation_p.R1182*	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2177						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						TATAGTGCTTCGAGAGGGACG	0.542													T	20122653	C	T	20122653	4	4	364	1	0	0	0	0	0	1	0	0	10260	876	31	1	6596	1	NAV2	11	20122653	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167730	20122653	114883863	8499	32001											
NAV2	89797	broad.mit.edu	37	chr11	20124899	20124899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggacaacctacaccaCgtgagctctctgggagagat	11	8	10	12	1	1	2	0	1	1	1	3	5	2	4	3	2	3	1	3	2	2	1	rs138671489	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20124899C>T	ENST00000396085.1	+	34	6886	c.6525C>T	c.(6523-6525)caC>caT	p.H2175H	NAV2_ENST00000396087.3_Silent_p.H2231H|NAV2_ENST00000349880.4_Silent_p.H2172H|NAV2_ENST00000360655.4_Silent_p.H2108H|NAV2_ENST00000540292.1_Silent_p.H2162H|NAV2_ENST00000527559.2_Silent_p.H2160H|NAV2_ENST00000311043.8_Silent_p.H1236H|NAV2_ENST00000533917.1_Silent_p.H1236H	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	2231						nucleus	ATP binding|helicase activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						ACCTACACCACGTGAGCTCTC	0.542													T	20124899	C	T	20124899	2	4	364	1	0	0	0	0	0	0	0	1	10260	535	19	1		1	NAV2	11	20124899	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2246	20124899	114881617	8500	32002											
PRMT3	10196	broad.mit.edu	37	chr11	20417380	20417380	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttatgaaccggtgtcagtAcccttctcataccccaatgg	9	12	7	13	1	2	1	2	1	1	0	3	1	2	1	4	2	3	1	4	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20417380A>G	ENST00000331079.6	+	6	649	c.432A>G	c.(430-432)gtA>gtG	p.V144V	PRMT3_ENST00000437750.2_Silent_p.V82V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	144							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CGGTGTCAGTACCCTTCTCAT	0.373													G	20417380	A	G	20417380	2	3	364	1	0	0	0	0	0	0	0	1	12624	378	14	3		3	PRMT3	11	20417380	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	292481	20417380	114589136	8501	32003											
PRMT3	10196	broad.mit.edu	37	chr11	20515715	20515715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaactttaccaattcaggtCgtgttctctacgggccctca	8	13	8	12	2	3	1	2	1	1	0	5	1	3	1	2	2	3	1	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20515715C>T	ENST00000331079.6	+	15	1618	c.1401C>T	c.(1399-1401)gtC>gtT	p.V467V	PRMT3_ENST00000437750.2_Silent_p.V405V	NM_001145167.1|NM_005788.3	NP_001138639.1|NP_005779	O60678	ANM3_HUMAN	protein arginine methyltransferase 3	467							zinc ion binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|prostate(1)	17						CAATTCAGGTCGTGTTCTCTA	0.373													T	20515715	C	T	20515715	2	4	364	1	0	0	0	0	0	0	0	1	12624	871	31	1		1	PRMT3	11	20515715	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98335	20515715	114490801	8502	32004											
SLC6A5	9152	broad.mit.edu	37	chr11	20625938	20625938	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgggcaatgtctggaGgtttccctacctggccttcc	4	11	14	12	0	1	0	0	0	1	0	3	1	3	1	4	6	1	3	4	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20625938G>T	ENST00000525748.1	+	3	920	c.647G>T	c.(646-648)aGg>aTg	p.R216M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	216					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	AATGTCTGGAGGTTTCCCTAC	0.632													T	20625938	G	T	20625938	3	4	364	1	0	0	0	0	1	0	0	0	14781	1000	35	4	657	4	SLC6A5	11	20625938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110223	20625938	114380578	8503	32005											
SLC6A5	9152	broad.mit.edu	37	chr11	20658807	20658807	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtgtttactctgggctgCtgcatttgtttcttcatcat	5	18	8	10	0	4	0	2	0	2	0	4	0	4	0	1	1	3	5	1	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20658807C>A	ENST00000525748.1	+	12	2100	c.1827C>A	c.(1825-1827)tgC>tgA	p.C609*	SLC6A5_ENST00000528440.1_3'UTR	NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	609					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	CTCTGGGCTGCTGCATTTGTT	0.542													A	20658807	C	A	20658807	4	1	364	1	0	0	0	0	0	1	0	0	14781	805	28	4	1873	4	SLC6A5	11	20658807	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32869	20658807	114347709	8504	32006											
NELL1	4745	broad.mit.edu	37	chr11	20699541	20699541	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccgagcttgaccttgtgaAcaccacccttggagttgctc	8	10	9	14	1	0	2	0	2	0	0	1	4	0	3	4	1	3	3	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20699541A>G	ENST00000298925.5	+	3	356	c.203A>G	c.(202-204)aAc>aGc	p.N68S	NELL1_ENST00000325319.5_Missense_Mutation_p.N40S|NELL1_ENST00000357134.5_Missense_Mutation_p.N40S|NELL1_ENST00000532434.1_Missense_Mutation_p.N40S			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	40					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GACCTTGTGAACACCACCCTT	0.488													G	20699541	A	G	20699541	3	3	364	1	0	0	0	0	1	0	0	0	10409	43	2	3	125	3	NELL1	11	20699541	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40734	20699541	114306975	8505	32007											
NELL1	4745	broad.mit.edu	37	chr11	20939758	20939758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagatgggaagatcatctttAtgccgaatggatatataaca	16	11	9	5	1	2	2	1	0	1	2	2	5	2	4	1	2	2	0	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:20939758A>G	ENST00000298925.5	+	7	871	c.718A>G	c.(718-720)Atg>Gtg	p.M240V	NELL1_ENST00000325319.5_Missense_Mutation_p.M155V|NELL1_ENST00000357134.5_Missense_Mutation_p.M212V|NELL1_ENST00000532434.1_Missense_Mutation_p.M212V			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	212					cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GATCATCTTTATGCCGAATGG	0.368													G	20939758	A	G	20939758	3	3	364	1	0	0	0	0	1	0	0	0	10409	449	16	3	656	3	NELL1	11	20939758	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	240217	20939758	114066758	8506	32008											
ANO5	203859	broad.mit.edu	37	chr11	22249017	22249017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtaagactcccactgaGtgtgaagtatccccatcctg	10	10	8	13	0	0	3	0	2	0	1	3	3	3	3	5	0	0	2	5	0	3	2	rs146725859		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22249017G>A	ENST00000324559.8	+	7	850	c.533G>A	c.(532-534)aGt>aAt	p.S178N		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	178						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	p.S178I(1)		breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTCCCACTGAGTGTGAAGTAT	0.463													A	22249017	G	A	22249017	3	1	364	1	0	0	0	0	1	0	0	0	700	1029	36	2	559	2	ANO5	11	22249017	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309259	22249017	112757499	8507	32009											
ANO5	203859	broad.mit.edu	37	chr11	22261165	22261165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcctaccaatgaaagataCacacttcaccagaattgggc	16	8	6	11	0	1	3	1	1	0	2	2	3	2	3	3	1	2	0	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22261165C>T	ENST00000324559.8	+	9	1130	c.813C>T	c.(811-813)taC>taT	p.Y271Y		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	271						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATGAAAGATACACACTTCACC	0.403													T	22261165	C	T	22261165	2	4	364	1	0	0	0	0	0	0	0	1	700	489	17	2		2	ANO5	11	22261165	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12148	22261165	112745351	8508	32010											
ANO5	203859	broad.mit.edu	37	chr11	22281285	22281285	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcctggatcacaaaaaTgggtaagctggccaaatcat	14	9	9	9	0	3	0	2	0	1	0	3	1	3	1	2	3	2	2	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22281285T>G	ENST00000324559.8	+	15	1945	c.1628T>G	c.(1627-1629)aTg>aGg	p.M543R		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	543						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ATCACAAAAATGGGTAAGCTG	0.363													G	22281285	T	G	22281285	3	3	364	1	0	0	0	0	1	0	0	0	700	1464	51	5	1686	5	ANO5	11	22281285	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20120	22281285	112725231	8509	32011											
SLC17A6	57084	broad.mit.edu	37	chr11	22396404	22396404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagcagattctttcaactaCgacagtgagaaagatcatga	16	9	8	8	1	3	4	2	2	1	3	3	6	3	4	0	0	3	1	0	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:22396404C>T	ENST00000263160.3	+	9	1582	c.1145C>T	c.(1144-1146)aCg>aTg	p.T382M		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	382					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						CTTTCAACTACGACAGTGAGA	0.373													T	22396404	C	T	22396404	3	4	364	1	0	0	0	0	1	0	0	0	14515	536	19	1	1179	1	SLC17A6	11	22396404	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115119	22396404	112610112	8510	32012											
ANO3	63982	broad.mit.edu	37	chr11	26556046	26556046	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcttcagcaatgctactCgaagcagaatagtctatcac	12	11	6	12	1	4	1	2	0	2	1	5	2	4	1	1	0	4	3	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26556046C>T	ENST00000256737.3	+	9	1765	c.913C>T	c.(913-915)Cga>Tga	p.R305*	ANO3_ENST00000537978.1_Nonsense_Mutation_p.R289*|ANO3_ENST00000531568.1_Nonsense_Mutation_p.R159*|ANO3_ENST00000525139.1_Nonsense_Mutation_p.R289*	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	305						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CAATGCTACTCGAAGCAGAAT	0.348													T	26556046	C	T	26556046	4	4	364	1	0	0	0	0	0	1	0	0	698	876	31	1	947	1	ANO3	11	26556046	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4159642	26556046	108450470	8511	32013											
MUC15	143662	broad.mit.edu	37	chr11	26582625	26582625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttagttctatacagaagtaCgaagtggaggtatgtcatcc	12	12	11	6	1	2	1	1	0	1	1	3	3	3	2	1	2	2	4	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:26582625C>T	ENST00000436318.2	-	4	1206	c.1073G>A	c.(1072-1074)cGt>cAt	p.R358H	ANO3_ENST00000529242.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000527569.1_Missense_Mutation_p.R308H|MUC15_ENST00000281268.8_Missense_Mutation_p.R308H|MUC15_ENST00000529533.1_Missense_Mutation_p.R358H|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.R331H|ANO3_ENST00000525139.1_Intron			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	331						extracellular region|integral to membrane|plasma membrane		p.R331H(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						TACAGAAGTACGAAGTGGAGG	0.378													T	26582625	C	T	26582625	3	4	364	1	0	0	0	0	1	0	0	0	10048	536	19	1	16	1	MUC15	11	26582625	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26579	26582625	108423891	8512	32014											
LGR4	55366	broad.mit.edu	37	chr11	27389979	27389979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgcaaatgaaaaaaacGccacagggcagaaaaagatg	20	4	11	6	1	0	3	0	1	0	2	0	3	0	3	1	2	2	2	1	2	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27389979G>A	ENST00000379214.4	-	18	2734	c.2291C>T	c.(2290-2292)gCg>gTg	p.A764V	LGR4_ENST00000389858.4_Missense_Mutation_p.A740V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	764						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TGAAAAAAACGCCACAGGGCA	0.403													A	27389979	G	A	27389979	3	1	364	1	0	0	0	0	1	0	0	0	8816	1087	38	1	568	1	LGR4	11	27389979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	807354	27389979	107616537	8513	32015											
LGR4	55366	broad.mit.edu	37	chr11	27390141	27390141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagtgagtttaatagcactAacgttacagtgaatcctaat	14	13	7	7	1	0	2	0	2	0	0	1	2	1	2	1	0	3	3	1	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390141A>G	ENST00000379214.4	-	18	2572	c.2129T>C	c.(2128-2130)tTa>tCa	p.L710S	LGR4_ENST00000389858.4_Missense_Mutation_p.L686S	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	710						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						TAATAGCACTAACGTTACAGT	0.398													G	27390141	A	G	27390141	3	3	364	1	0	0	0	0	1	0	0	0	8816	372	13	3	730	3	LGR4	11	27390141	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	162	27390141	107616375	8514	32016											
LGR4	55366	broad.mit.edu	37	chr11	27390580	27390580	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtgatgtacaagatgcaaAtgttgttaaaataacaagca	18	10	8	5	0	0	2	0	1	0	1	0	2	0	2	0	0	4	5	0	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27390580A>C	ENST00000379214.4	-	18	2133	c.1690T>G	c.(1690-1692)Ttt>Gtt	p.F564V	LGR4_ENST00000389858.4_Missense_Mutation_p.F540V	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	564						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						CAAGATGCAAATGTTGTTAAA	0.368													C	27390580	A	C	27390580	3	2	364	1	0	0	0	0	1	0	0	0	8816	101	4	5	1169	5	LGR4	11	27390580	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	439	27390580	107615936	8515	32017											
BDNF	627	broad.mit.edu	37	chr11	27679427	27679427	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtctatccttatgaatcGccagccaattctctttttgc	8	16	6	11	1	2	1	0	1	2	0	5	1	3	1	3	0	2	0	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:27679427G>A	ENST00000525528.1	-	1	1778	c.685C>T	c.(685-687)Cga>Tga	p.R229*	BDNF_ENST00000525950.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000420794.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000530686.1_RNA|BDNF_ENST00000584049.1_5'UTR|BDNF_ENST00000438929.1_Nonsense_Mutation_p.R311*|BDNF_ENST00000395980.2_Nonsense_Mutation_p.R229*|BDNF_ENST00000533131.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000501176.2_RNA|BDNF_ENST00000532997.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395978.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000530861.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000439476.2_Nonsense_Mutation_p.R229*|BDNF_ENST00000395981.3_Nonsense_Mutation_p.R229*|BDNF_ENST00000395986.2_Nonsense_Mutation_p.R244*|BDNF_ENST00000418212.1_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000532965.1_RNA|BDNF_ENST00000533246.1_Nonsense_Mutation_p.R229*|BDNF_ENST00000395983.3_Nonsense_Mutation_p.R229*|BDNF-AS_ENST00000502161.2_RNA|BDNF-AS_ENST00000500662.2_RNA|BDNF-AS_ENST00000530313.1_RNA|BDNF-AS_ENST00000499008.3_RNA|BDNF_ENST00000356660.4_Nonsense_Mutation_p.R229*|BDNF_ENST00000314915.6_Nonsense_Mutation_p.R237*|BDNF-AS_ENST00000499568.2_RNA	NM_170735.5	NP_733931.1	P23560	BDNF_HUMAN	brain-derived neurotrophic factor	229						extracellular region	growth factor activity			breast(1)|large_intestine(3)|lung(2)	6						CTTATGAATCGCCAGCCAATT	0.423													A	27679427	G	A	27679427	4	1	364	1	0	0	0	0	0	1	0	0	1399	1095	38	1	62	1	BDNF	11	27679427	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	288847	27679427	107327089	8516	32018											
KCNA4	3739	broad.mit.edu	37	chr11	30033097	30033097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaccatacaatacagaCtgtttccacgatgaagaagg	17	7	9	8	1	0	3	0	1	0	2	1	5	1	4	2	2	3	1	2	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30033097C>T	ENST00000328224.6	-	2	2362	c.1129G>A	c.(1129-1131)Gtc>Atc	p.V377I		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	377						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						ACAATACAGACTGTTTCCACG	0.453													T	30033097	C	T	30033097	3	4	364	1	0	0	0	0	1	0	0	0	8063	565	20	2	836	2	KCNA4	11	30033097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2353670	30033097	104973419	8517	32019											
MPPED2	744	broad.mit.edu	37	chr11	30557550	30557550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattccttacctaaccagtCattaaacttcttaacctctg	11	15	2	13	0	4	0	2	0	2	0	5	0	5	0	4	0	4	0	4	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30557550C>A	ENST00000448418.2	-	3	661	c.301G>T	c.(301-303)Gac>Tac	p.D101Y	MPPED2_ENST00000358117.5_Missense_Mutation_p.D101Y	NM_001145399.1	NP_001138871.1	Q15777	MPPD2_HUMAN	metallophosphoesterase domain containing 2	101					nervous system development		hydrolase activity|metal ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(15)|skin(2)|upper_aerodigestive_tract(2)	33						CCTAACCAGTCATTAAACTTC	0.498													A	30557550	C	A	30557550	3	1	364	1	0	0	0	0	1	0	0	0	9818	826	29	4	675	4	MPPED2	11	30557550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524453	30557550	104448966	8518	32020											
DCDC1	341019	broad.mit.edu	37	chr11	30914468	30914468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttatacaggttgctcGgcttgactgctatacgtttg	6	15	11	9	2	0	1	0	1	0	0	1	1	0	1	0	2	5	7	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30914468G>A	ENST00000597505.1	-	34	4969	c.4970C>T	c.(4969-4971)cCg>cTg	p.P1657L	DCDC1_ENST00000406071.2_Missense_Mutation_p.P395L			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGGTTGCTCGGCTTGACTGC	0.423													A	30914468	G	A	30914468	3	1	364	1	0	0	0	0	1	0	0	0	4318	1131	39	1		1	DCDC1	11	30914468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	356918	30914468	104092048	8519	32021											
DCDC1	341019	broad.mit.edu	37	chr11	30915926	30915926	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgacatgccgctactcGccgccctgaggaaacaagtc	9	7	11	14	3	0	2	0	2	0	0	2	3	0	3	3	2	3	2	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:30915926G>A	ENST00000597505.1	-	33	4761	c.4762C>T	c.(4762-4764)Cga>Tga	p.R1588*	DCDC1_ENST00000406071.2_Nonsense_Mutation_p.R326*			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GCCGCTACTCGCCGCCCTGAG	0.478													A	30915926	G	A	30915926	4	1	364	1	0	0	0	0	0	1	0	0	4318	1102	38	1		1	DCDC1	11	30915926	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1458	30915926	104090590	8520	32022											
ELP4	26610	broad.mit.edu	37	chr11	31805058	31805058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatggccggaggcaagaagCacctggacttctagggattc	10	8	14	9	1	1	2	0	1	1	1	2	5	1	5	2	5	1	2	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:31805058C>T	ENST00000350638.5	+	10	1296	c.1261C>T	c.(1261-1263)Cac>Tac	p.H421Y	ELP4_ENST00000379163.5_Missense_Mutation_p.A468V|ELP4_ENST00000395934.2_3'UTR	NM_019040.3	NP_061913.3	Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	421					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					AGGCAAGAAGCACCTGGACTT	0.473													T	31805058	C	T	31805058	3	4	364	1	0	0	0	0	1	0	0	0	5123	710	25	2	1299	2	ELP4	11	31805058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	889132	31805058	103201458	8521	32023											
WT1	7490	broad.mit.edu	37	chr11	32421585	32421585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcgctctcgtaccctgtgCtgtggctgcaaacacaaaga	10	10	9	12	2	1	1	0	0	1	1	3	1	1	1	1	1	4	5	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32421585C>T	ENST00000332351.3	-	6	1291	c.1007G>A	c.(1006-1008)aGc>aAc	p.S336N	WT1_ENST00000379079.2_Missense_Mutation_p.S124N|WT1_ENST00000530998.1_Missense_Mutation_p.S107N|WT1_ENST00000448076.3_Missense_Mutation_p.S336N	NM_024424.3|NM_024426.4	NP_077742.2|NP_077744	P19544	WT1_HUMAN	Wilms tumor 1	268					adrenal cortex formation|branching involved in ureteric bud morphogenesis|camera-type eye development|cardiac muscle cell fate commitment|cellular response to cAMP|cellular response to gonadotropin stimulus|germ cell development|glomerular basement membrane development|glomerular visceral epithelial cell differentiation|induction of apoptosis|male genitalia development|male gonad development|mesenchymal to epithelial transition|metanephric epithelium development|metanephric S-shaped body morphogenesis|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of female gonad development|negative regulation of metanephric glomerular mesangial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of translation|positive regulation of male gonad development|positive regulation of transcription, DNA-dependent|posterior mesonephric tubule development|regulation of organ formation|RNA splicing|sex determination|vasculogenesis|visceral serous pericardium development	cytoplasm|nuclear speck|nucleoplasm	C2H2 zinc finger domain binding|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding		EWSR1/WT1(234)	NS(1)|haematopoietic_and_lymphoid_tissue(348)|kidney(149)|large_intestine(9)|lung(20)|peritoneum(1)|pleura(2)|skin(2)|upper_aerodigestive_tract(1)	533	Breast(20;0.247)		OV - Ovarian serous cystadenocarcinoma(30;0.128)			GTACCCTGTGCTGTGGCTGCA	0.498			"D, Mis, N, F, S"	EWSR1	"Wilms, desmoplastic small round cell tumor"	Wilms			Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation;Frasier syndrome;Familial Wilms' tumor;Denys-Drash syndrome				T	32421585	C	T	32421585	3	4	364	1	0	0	0	0	1	0	0	0	17510	797	28	2	566	2	WT1	11	32421585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	616527	32421585	102584931	8522	32024											
CCDC73	493860	broad.mit.edu	37	chr11	32637485	32637485	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaatataattttaaggttaCcatctataattatttcctct	13	19	2	7	0	3	0	1	0	2	0	4	0	4	0	2	1	1	1	2	1	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32637485C>A	ENST00000335185.5	-	15	1419		c.e15+1		CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73											NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TTTAAGGTTACCATCTATAAT	0.264													A	32637485	C	A	32637485	5	1	364	1	0	0	0	0	0	0	1	0	2874	521	18	4	1879	4	CCDC73	11	32637485	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215900	32637485	102369031	8523	32025											
QSER1	79832	broad.mit.edu	37	chr11	32954223	32954223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttagtcagtcccaaaattaCggtttagtacagccacataa	14	11	7	9	1	1	0	1	0	0	0	2	0	2	0	2	1	3	3	2	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32954223C>T	ENST00000399302.2	+	4	1367	c.1032C>T	c.(1030-1032)taC>taT	p.Y344Y	QSER1_ENST00000527788.1_Intron	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	344	Ser-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CCCAAAATTACGGTTTAGTAC	0.388													T	32954223	C	T	32954223	2	4	364	1	0	0	0	0	0	0	0	1	12970	547	19	1		1	QSER1	11	32954223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316738	32954223	102052293	8524	32026											
QSER1	79832	broad.mit.edu	37	chr11	32955686	32955686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagtttgtttctcttggatCgatgtgtttcccagaggcag	6	16	11	8	1	2	1	1	0	1	1	5	3	3	2	1	2	0	4	1	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:32955686C>T	ENST00000399302.2	+	4	2830	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L	QSER1_ENST00000527788.1_Missense_Mutation_p.S593L	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	832										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTCTTGGATCGATGTGTTTC	0.363													T	32955686	C	T	32955686	3	4	364	1	0	0	0	0	1	0	0	0	12970	893	31	1	2501	1	QSER1	11	32955686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1463	32955686	102050830	8525	32027											
TCP11L1	55346	broad.mit.edu	37	chr11	33080616	33080616	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatacgaaaggaagaagttTcaagagattttggagaggca	17	8	13	3	1	1	3	1	0	0	3	1	8	1	4	0	3	1	2	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33080616T>G	ENST00000334274.4	+	6	1150	c.750T>G	c.(748-750)ttT>ttG	p.F250L	TCP11L1_ENST00000531632.2_Missense_Mutation_p.F250L|TCP11L1_ENST00000432887.1_Missense_Mutation_p.F250L|TCP11L1_ENST00000324357.9_Missense_Mutation_p.F29L	NM_018393.3	NP_060863.3	Q9NUJ3	T11L1_HUMAN	t-complex 11, testis-specific-like 1	250										kidney(1)|liver(2)|lung(2)|skin(1)	6						GGAAGAAGTTTCAAGAGATTT	0.398													G	33080616	T	G	33080616	3	3	364	1	0	0	0	0	1	0	0	0	15814	1780	62	5	768	5	TCP11L1	11	33080616	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	124930	33080616	101925900	8526	32028											
CSTF3	1479	broad.mit.edu	37	chr11	33118430	33118430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaacatagacatggtggCgggttctggtatcttctctt	8	14	11	8	1	3	1	0	0	3	1	4	1	3	1	0	4	1	3	0	4	3	6	rs11553357	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33118430C>T	ENST00000323959.4	-	14	1362	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	408					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GACATGGTGGCGGGTTCTGGT	0.363													T	33118430	C	T	33118430	3	4	364	1	0	0	0	0	1	0	0	0	4019	768	27	1	962	1	CSTF3	11	33118430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37814	33118430	101888086	8527	32029											
CSTF3	1479	broad.mit.edu	37	chr11	33163271	33163271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaactgggcaacaaggCgttcataagtcttccgtgct	9	10	13	9	2	2	0	1	0	1	0	3	1	3	1	1	4	3	3	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33163271C>T	ENST00000323959.4	-	3	306	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CSTF3_ENST00000524827.1_Missense_Mutation_p.R88H|CSTF3_ENST00000438862.2_Missense_Mutation_p.R56H|CSTF3_ENST00000526480.1_5'UTR|CSTF3_ENST00000431742.2_3'UTR	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	56					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						GGCAACAAGGCGTTCATAAGT	0.343													T	33163271	C	T	33163271	3	4	364	1	0	0	0	0	1	0	0	0	4019	768	27	1	2149	1	CSTF3	11	33163271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44841	33163271	101843245	8528	32030											
HIPK3	10114	broad.mit.edu	37	chr11	33373380	33373380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaatgccgatgagcatatgGcaaacacaggtaagttgagt	15	9	11	6	1	0	2	0	2	0	0	0	3	0	2	1	2	3	4	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33373380G>A	ENST00000303296.4	+	15	3339	c.3034G>A	c.(3034-3036)Gca>Aca	p.A1012T	HIPK3_ENST00000456517.1_Missense_Mutation_p.A991T|HIPK3_ENST00000525975.1_Missense_Mutation_p.A991T|HIPK3_ENST00000379016.3_Missense_Mutation_p.A991T	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	1012					anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						TGAGCATATGGCAAACACAGG	0.438													A	33373380	G	A	33373380	3	1	364	1	0	0	0	0	1	0	0	0	7173	1203	42	2	3088	2	HIPK3	11	33373380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210109	33373380	101633136	8529	32031											
LMO2	4005	broad.mit.edu	37	chr11	33886303	33886303	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcggtccccaatgttctgCtggcagccgccgcatgtcag	6	9	12	14	3	2	0	1	0	1	0	3	0	3	0	4	2	3	4	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:33886303C>A	ENST00000257818.2	-	5	1138	c.309G>T	c.(307-309)caG>caT	p.Q103H	LMO2_ENST00000395833.3_Missense_Mutation_p.Q34H	NM_005574.3	NP_005565.2	P25791	RBTN2_HUMAN	LIM domain only 2 (rhombotin-like 1)	34	LIM zinc-binding 2.				multicellular organismal development	nucleus	protein binding|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(7)|prostate(1)|stomach(1)|urinary_tract(1)	14						CAATGTTCTGCTGGCAGCCGC	0.632			T	TRD@	T-ALL								A	33886303	C	A	33886303	3	1	364	1	0	0	0	0	1	0	0	0	8913	796	28	4	382	4	LMO2	11	33886303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	512923	33886303	101120213	8530	32032											
NAT10	55226	broad.mit.edu	37	chr11	34160752	34160752	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagaatgacctgaccggAgagcactcgtgcatcatgct	10	7	11	13	2	1	4	1	2	0	2	2	5	1	4	3	1	3	3	3	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34160752A>G	ENST00000257829.3	+	22	2432	c.2226A>G	c.(2224-2226)ggA>ggG	p.G742G	NAT10_ENST00000527971.1_Intron|NAT10_ENST00000531159.2_Silent_p.G670G	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	742	N-acetyltransferase.|Required for localization to the nucleolus and midbody.					nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				ACCTGACCGGAGAGCACTCGT	0.517													G	34160752	A	G	34160752	2	3	364	1	0	0	0	0	0	0	0	1	10250	291	11	3		3	NAT10	11	34160752	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	274449	34160752	100845764	8531	32033											
ABTB2	25841	broad.mit.edu	37	chr11	34175835	34175835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatatttgtaggtgttcaCggcactctccatgctgaggg	7	12	13	9	1	2	1	1	1	1	0	3	1	2	1	1	4	1	5	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34175835C>T	ENST00000435224.2	-	16	3281	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	ABTB2_ENST00000298992.2_Missense_Mutation_p.V767M	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	767							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TAGGTGTTCACGGCACTCTCC	0.632													T	34175835	C	T	34175835	3	4	364	1	0	0	0	0	1	0	0	0	103	536	19	1	228	1	ABTB2	11	34175835	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15083	34175835	100830681	8532	32034											
ABTB2	25841	broad.mit.edu	37	chr11	34218941	34218941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactccatctgtggacacCgcagaaagtagtagagcgtg	11	8	13	9	2	1	2	0	0	1	2	2	4	2	4	2	2	1	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34218941C>T	ENST00000435224.2	-	3	1599	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	ABTB2_ENST00000530814.1_5'UTR|ABTB2_ENST00000298992.2_Missense_Mutation_p.R206Q	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	206							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CTGTGGACACCGCAGAAAGTA	0.642													T	34218941	C	T	34218941	3	4	364	1	0	0	0	0	1	0	0	0	103	652	23	1	1962	1	ABTB2	11	34218941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43106	34218941	100787575	8533	32035											
CAT	847	broad.mit.edu	37	chr11	34470767	34470767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcctgaccactggagctgGtaacccagtaggagacaaac	12	7	11	11	0	0	2	0	1	0	1	1	4	1	3	3	3	3	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34470767G>A	ENST00000241052.4	+	2	184	c.95G>A	c.(94-96)gGt>gAt	p.G32D		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	32					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ACTGGAGCTGGTAACCCAGTA	0.458													A	34470767	G	A	34470767	3	1	364	1	0	0	0	0	1	0	0	0	2712	1261	44	2	101	2	CAT	11	34470767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251826	34470767	100535749	8534	32036											
CAT	847	broad.mit.edu	37	chr11	34489941	34489941	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattttcatccagaagaaagCggtgagtctttgtaagctga	13	12	10	6	1	2	4	1	2	1	2	3	4	3	4	1	1	2	2	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34489941C>T	ENST00000241052.4	+	11	1522	c.1433C>T	c.(1432-1434)gCg>gTg	p.A478V		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	478					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	CAGAAGAAAGCGGTGAGTCTT	0.468													T	34489941	C	T	34489941	5	4	364	1	0	0	0	0	0	0	1	0	2712	782	27	1	1475	1	CAT	11	34489941	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19174	34489941	100516575	8535	32037											
ELF5	2001	broad.mit.edu	37	chr11	34515065	34515065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatgaagtacaggtactCgccgcagaggccagctgcct	10	6	14	11	2	0	2	0	1	0	1	1	4	0	3	3	3	4	4	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34515065C>T	ENST00000312319.2	-	3	575	c.346G>A	c.(346-348)Gag>Aag	p.E116K	ELF5_ENST00000532417.1_Missense_Mutation_p.E106K|ELF5_ENST00000257832.2_Missense_Mutation_p.E106K|ELF5_ENST00000429939.2_Intron|ELF5_ENST00000528709.1_Intron	NM_001243081.1|NM_198381.1	NP_001230010.1|NP_938195.1	Q9UKW6	ELF5_HUMAN	E74-like factor 5 (ets domain transcription factor)	116	PNT.				cell proliferation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(4)|skin(1)	5		Acute lymphoblastic leukemia(5;0.0087)|all_hematologic(20;0.0384)				TACAGGTACTCGCCGCAGAGG	0.557											OREG0020879	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34515065	C	T	34515065	3	4	364	1	0	0	0	0	1	0	0	0	5098	893	31	1	471	1	ELF5	11	34515065	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25124	34515065	100491451	8536	32038											
EHF	26298	broad.mit.edu	37	chr11	34680413	34680413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaaattctggagcgtgtgGatggacgaagactggtatat	12	10	15	4	2	1	2	0	0	1	2	1	7	1	5	0	4	1	1	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:34680413G>T	ENST00000257831.3	+	9	959	c.838G>T	c.(838-840)Gat>Tat	p.D280Y	EHF_ENST00000450654.2_Missense_Mutation_p.D257Y|EHF_ENST00000533754.1_Missense_Mutation_p.D280Y|EHF_ENST00000530286.1_Missense_Mutation_p.D280Y|EHF_ENST00000531794.1_Missense_Mutation_p.D302Y	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	280					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			GGAGCGTGTGGATGGACGAAG	0.408													T	34680413	G	T	34680413	3	4	364	1	0	0	0	0	1	0	0	0	5020	1174	41	4	868	4	EHF	11	34680413	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165348	34680413	100326103	8537	32039											
CD44	960	broad.mit.edu	37	chr11	35198194	35198194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctacagcatctctcggaCggaggccgctgacctctgca	7	8	11	15	4	2	1	0	1	2	0	5	3	2	3	2	3	3	4	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35198194C>T	ENST00000263398.6	+	2	574	c.140C>T	c.(139-141)aCg>aTg	p.T47M	CD44_ENST00000428726.2_Missense_Mutation_p.T47M|CD44_ENST00000433354.2_Missense_Mutation_p.T47M|CD44_ENST00000415148.2_Missense_Mutation_p.T47M|CD44_ENST00000433892.2_Missense_Mutation_p.T47M|CD44_ENST00000434472.2_Missense_Mutation_p.T47M|CD44_ENST00000526669.2_Missense_Mutation_p.T47M|CD44_ENST00000526025.1_Missense_Mutation_p.T47M|CD44_ENST00000278386.6_Missense_Mutation_p.T47M|CD44_ENST00000449691.2_Missense_Mutation_p.T47M|CD44_ENST00000352818.4_Missense_Mutation_p.T47M|CD44_ENST00000360158.4_Missense_Mutation_p.T47M|CD44_ENST00000437706.2_Missense_Mutation_p.T47M	NM_001001391.1|NM_001202555.1|NM_001202556.1	NP_001001391.1|NP_001189484.1|NP_001189485.1	P16070	CD44_HUMAN	CD44 molecule (Indian blood group)	47	Link.				cell-cell adhesion|cell-matrix adhesion|interferon-gamma-mediated signaling pathway|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation	cell surface|Golgi apparatus|integral to plasma membrane	collagen binding|hyaluronic acid binding|receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|skin(1)	23	all_cancers(35;0.212)|all_lung(20;0.0874)|all_epithelial(35;0.112)	all_hematologic(20;0.107)	STAD - Stomach adenocarcinoma(6;0.00731)		Hyaluronidase(DB00070)	ATCTCTCGGACGGAGGCCGCT	0.483													T	35198194	C	T	35198194	3	4	364	1	0	0	0	0	1	0	0	0	3047	536	19	1	146	1	CD44	11	35198194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	517781	35198194	99808322	8538	32040											
SLC1A2	6506	broad.mit.edu	37	chr11	35302462	35302462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgtcctctgttggcaggCccacggctgtcagaatgagg	7	10	14	10	1	2	3	1	2	1	1	3	3	3	3	2	4	0	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35302462C>T	ENST00000278379.3	-	9	1655	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D	SLC1A2_ENST00000395753.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000606205.1_Missense_Mutation_p.G458D|SLC1A2_ENST00000395750.1_Missense_Mutation_p.G449D|SLC1A2_ENST00000479543.1_5'UTR	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	458					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TGTTGGCAGGCCCACGGCTGT	0.617													T	35302462	C	T	35302462	3	4	364	1	0	0	0	0	1	0	0	0	14526	739	26	2	363	2	SLC1A2	11	35302462	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104268	35302462	99704054	8539	32041											
SLC1A2	6506	broad.mit.edu	37	chr11	35314060	35314060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caggcaggcgatacccagggGagagtacctgaaaaacacaa	16	3	12	10	1	0	2	0	1	0	1	0	4	0	2	2	4	3	2	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35314060G>A	ENST00000278379.3	-	7	1147	c.865C>T	c.(865-867)Ccc>Tcc	p.P289S	SLC1A2_ENST00000395753.1_Missense_Mutation_p.P280S|SLC1A2_ENST00000606205.1_Missense_Mutation_p.P289S|SLC1A2_ENST00000395750.1_Missense_Mutation_p.P280S	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	289				AKLMVDFFNILNEIVMKLVIMIMWYSP -> GQADGGFLQH FERDCNEVSDHDHVVLS (in Ref. 3; CAA83532).	D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	ATACCCAGGGGAGAGTACCTG	0.468													A	35314060	G	A	35314060	3	1	364	1	0	0	0	0	1	0	0	0	14526	1174	41	2	879	2	SLC1A2	11	35314060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11598	35314060	99692456	8540	32042											
SLC1A2	6506	broad.mit.edu	37	chr11	35339032	35339032	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgactgtcgtgcattcGcacttccacctgcttgggca	8	11	10	12	2	0	2	0	1	0	1	3	2	1	2	2	1	2	4	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35339032G>A	ENST00000278379.3	-	2	331	c.49C>T	c.(49-51)Cga>Tga	p.R17*	SLC1A2_ENST00000395753.1_Nonsense_Mutation_p.R8*|SLC1A2_ENST00000606205.1_Nonsense_Mutation_p.R17*|SLC1A2_ENST00000395750.1_Nonsense_Mutation_p.R8*	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	17					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	TCGTGCATTCGCACTTCCACC	0.562													A	35339032	G	A	35339032	4	1	364	1	0	0	0	0	0	1	0	0	14526	1095	38	1	1715	1	SLC1A2	11	35339032	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24972	35339032	99667484	8541	32043											
PAMR1	25891	broad.mit.edu	37	chr11	35454022	35454022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtcccatcagatgccagCgtggctcaggagatgctcgt	8	8	12	13	2	2	2	2	0	0	2	4	3	3	2	3	2	3	2	3	2	0	0	rs143951734	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:35454022C>T	ENST00000378880.2	-	11	2490	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H	PAMR1_ENST00000532848.1_Missense_Mutation_p.R642H|PAMR1_ENST00000278360.3_Missense_Mutation_p.R699H|PAMR1_ENST00000378878.3_Missense_Mutation_p.R571H	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	682	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						CAGATGCCAGCGTGGCTCAGG	0.567													T	35454022	C	T	35454022	3	4	364	1	0	0	0	0	1	0	0	0	11489	768	27	1	121	1	PAMR1	11	35454022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114990	35454022	99552494	8542	32044											
LDLRAD3	143458	broad.mit.edu	37	chr11	36250939	36250939	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccagccagggcactgaaGaagtataagtcccagttatt	13	8	10	10	0	0	2	0	1	0	1	1	2	1	2	3	1	2	3	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36250939G>T	ENST00000315571.5	+	6	1051	c.1030G>T	c.(1030-1032)Gaa>Taa	p.E344*	LDLRAD3_ENST00000524419.1_Nonsense_Mutation_p.E334*|LDLRAD3_ENST00000528989.1_Nonsense_Mutation_p.E295*	NM_174902.2	NP_777562.1	Q86YD5	LRAD3_HUMAN	low density lipoprotein receptor class A domain containing 3	344						integral to membrane	receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(7)|skin(1)	28	all_lung(20;0.089)|Lung NSC(22;0.175)|all_epithelial(35;0.177)	all_hematologic(20;0.124)				GGGCACTGAAGAAGTATAAGT	0.552													T	36250939	G	T	36250939	4	4	364	1	0	0	0	0	0	1	0	0	8766	943	33	4	1052	4	LDLRAD3	11	36250939	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	796917	36250939	98755577	8543	32045											
COMMD9	29099	broad.mit.edu	37	chr11	36296317	36296317	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgcataggctgggatcttcTtggatctgaaacgagaacac	11	9	11	10	2	3	2	0	1	3	1	3	5	3	4	1	3	2	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36296317T>G	ENST00000263401.5	-	6	478	c.462A>C	c.(460-462)caA>caC	p.Q154H	COMMD9_ENST00000532705.1_Silent_p.R143R|COMMD9_ENST00000452374.2_Missense_Mutation_p.Q112H	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	154	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				TGGGATCTTCTTGGATCTGAA	0.537													G	36296317	T	G	36296317	3	3	364	1	0	0	0	0	1	0	0	0	3754	1606	56	5	138	5	COMMD9	11	36296317	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45378	36296317	98710199	8544	32046											
PRR5L	79899	broad.mit.edu	37	chr11	36472881	36472881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctcaggccccacgtacacGctgggtaaggagtgcagctc	8	8	12	13	2	1	0	1	0	1	0	3	1	1	1	2	3	3	5	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36472881G>A	ENST00000378867.3	+	9	1063	c.708G>A	c.(706-708)acG>acA	p.T236T	PRR5L_ENST00000311599.5_Silent_p.T163T|PRR5L_ENST00000530639.1_Silent_p.T236T|PRR5L_ENST00000389693.3_3'UTR|PRR5L_ENST00000527487.1_Intron	NM_024841.4	NP_079117.3	Q6MZQ0	PRR5L_HUMAN	proline rich 5 like	236										breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)	19						CCACGTACACGCTGGGTAAGG	0.517													A	36472881	G	A	36472881	2	1	364	1	0	0	0	0	0	0	0	1	12687	1074	38	1		1	PRR5L	11	36472881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176564	36472881	98533635	8545	32047											
TRAF6	7189	broad.mit.edu	37	chr11	36511763	36511763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgcacagcgctgagcagtCggtaactgaaggtgcaagcg	10	8	14	9	3	0	2	0	2	0	0	1	2	0	2	0	2	6	5	0	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36511763C>T	ENST00000526995.1	-	7	1440	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	TRAF6_ENST00000348124.5_Silent_p.P398P	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	398	MATH.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GCTGAGCAGTCGGTAACTGAA	0.493													T	36511763	C	T	36511763	2	4	364	1	0	0	0	0	0	0	0	1	16546	871	31	1		1	TRAF6	11	36511763	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38882	36511763	98494753	8546	32048											
TRAF6	7189	broad.mit.edu	37	chr11	36512081	36512081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atagtttcctggaaattccgGacctctgagatatacccaga	12	11	8	10	1	1	2	0	1	1	2	3	5	3	4	4	2	1	1	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36512081G>A	ENST00000526995.1	-	7	1122	c.876C>T	c.(874-876)gtC>gtT	p.V292V	TRAF6_ENST00000348124.5_Silent_p.V292V|TRAF6_ENST00000529150.1_5'UTR	NM_004620.3	NP_004611.1	Q9Y4K3	TRAF6_HUMAN	TNF receptor-associated factor 6, E3 ubiquitin protein ligase	292	Interaction with TAX1BP1.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|ossification|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of osteoclast differentiation|positive regulation of T cell cytokine production|protein autoubiquitination|protein K63-linked ubiquitination|response to interleukin-1|stress-activated MAPK cascade|T cell receptor signaling pathway|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	CD40 receptor complex|cell cortex|cytosol|endosome membrane|internal side of plasma membrane|nuclear membrane	histone deacetylase binding|mitogen-activated protein kinase kinase kinase binding|protein kinase B binding|protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(13)|ovary(2)|pancreas(1)	27	all_lung(20;0.211)	all_hematologic(20;0.107)				GGAAATTCCGGACCTCTGAGA	0.478													A	36512081	G	A	36512081	2	1	364	1	0	0	0	0	0	0	0	1	16546	1161	41	2		2	TRAF6	11	36512081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	318	36512081	98494435	8547	32049											
RAG1	5896	broad.mit.edu	37	chr11	36596598	36596598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacatcttggaaggcatgAgatcccaagaccttgatgat	14	9	10	8	0	1	5	0	3	1	3	2	7	2	6	2	2	0	1	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:36596598A>G	ENST00000299440.5	+	2	1856	c.1744A>G	c.(1744-1746)Aga>Gga	p.R582G		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	582					histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				GGAAGGCATGAGATCCCAAGA	0.493									Familial Hemophagocytic Lymphohistiocytosis				G	36596598	A	G	36596598	3	3	364	1	0	0	0	0	1	0	0	0	13091	296	11	3	1746	3	RAG1	11	36596598	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	84517	36596598	98409918	8548	32050											
LRRC4C	57689	broad.mit.edu	37	chr11	40135961	40135961	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtctttagagttcattcGgatcaataacggttcatgca	11	15	8	7	2	4	1	3	0	1	1	5	2	4	2	0	2	2	3	0	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40135961G>A	ENST00000278198.2	-	2	3845	c.1882C>T	c.(1882-1884)Cga>Tga	p.R628*	LRRC4C_ENST00000527150.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000528697.1_Nonsense_Mutation_p.R628*|LRRC4C_ENST00000530763.1_Nonsense_Mutation_p.R628*			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	628					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GAGTTCATTCGGATCAATAAC	0.303													A	40135961	G	A	40135961	4	1	364	1	0	0	0	0	0	1	0	0	9078	1124	39	1	44	1	LRRC4C	11	40135961	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3539363	40135961	94870555	8549	32051											
LRRC4C	57689	broad.mit.edu	37	chr11	40137065	40137065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggttgtcaaaggcattccGttcaatcacttgaatctggg	11	12	10	8	1	4	1	3	1	1	0	5	1	5	1	1	3	0	3	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137065G>A	ENST00000278198.2	-	2	2741	c.778C>T	c.(778-780)Cgg>Tgg	p.R260W	LRRC4C_ENST00000527150.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000528697.1_Missense_Mutation_p.R260W|LRRC4C_ENST00000530763.1_Missense_Mutation_p.R260W			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	260					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				AAGGCATTCCGTTCAATCACT	0.448													A	40137065	G	A	40137065	3	1	364	1	0	0	0	0	1	0	0	0	9078	1144	40	1	1148	1	LRRC4C	11	40137065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1104	40137065	94869451	8550	32052											
LRRC4C	57689	broad.mit.edu	37	chr11	40137233	40137233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaggttgcacatggcaaGgttcaaatacctcaagttgg	12	9	11	9	1	2	0	2	0	0	0	2	1	2	0	2	4	2	5	2	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:40137233G>T	ENST00000278198.2	-	2	2573	c.610C>A	c.(610-612)Ctt>Att	p.L204I	LRRC4C_ENST00000527150.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000528697.1_Missense_Mutation_p.L204I|LRRC4C_ENST00000530763.1_Missense_Mutation_p.L204I			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	204					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				CACATGGCAAGGTTCAAATAC	0.453													T	40137233	G	T	40137233	3	4	364	1	0	0	0	0	1	0	0	0	9078	1000	35	4	1316	4	LRRC4C	11	40137233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168	40137233	94869283	8551	32053											
TTC17	55761	broad.mit.edu	37	chr11	43423045	43423045	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcagcatagtttacattgCcagtgggaccagcctgtacg	10	9	11	11	1	0	0	0	0	0	0	0	1	0	1	3	1	6	4	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43423045C>T	ENST00000039989.4	+	10	1283	c.1269C>T	c.(1267-1269)tgC>tgT	p.C423C	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Silent_p.C423C	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	423							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						GTTTACATTGCCAGTGGGACC	0.408													T	43423045	C	T	43423045	2	4	364	1	0	0	0	0	0	0	0	1	16786	747	26	2		2	TTC17	11	43423045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3285812	43423045	91583471	8552	32054											
TTC17	55761	broad.mit.edu	37	chr11	43465045	43465045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctagacttacaaggaataCgggtgctgaagaaaggtccc	13	8	12	8	1	1	3	0	1	1	2	2	4	2	4	1	3	3	1	1	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:43465045C>T	ENST00000039989.4	+	17	2436	c.2422C>T	c.(2422-2424)Cgg>Tgg	p.R808W	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R865W	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	808							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						ACAAGGAATACGGGTGCTGAA	0.498													T	43465045	C	T	43465045	3	4	364	1	0	0	0	0	1	0	0	0	16786	527	19	1	2488	1	TTC17	11	43465045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42000	43465045	91541471	8553	32055											
ACCSL	390110	broad.mit.edu	37	chr11	44080142	44080142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacggctcctctattgccGcttcctggacaacaagctat	10	10	8	13	2	1	1	0	0	1	1	3	2	3	2	3	2	4	3	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44080142G>A	ENST00000378832.1	+	13	1573	c.1517G>A	c.(1516-1518)cGc>cAc	p.R506H		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	506							1-aminocyclopropane-1-carboxylate synthase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						CTCTATTGCCGCTTCCTGGAC	0.542													A	44080142	G	A	44080142	3	1	364	1	0	0	0	0	1	0	0	0	134	1087	38	1	1567	1	ACCSL	11	44080142	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	615097	44080142	90926374	8554	32056											
ACCS	84680	broad.mit.edu	37	chr11	44104852	44104852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttcatctgggttgaCttgagaaaggtaatgctggt	8	14	13	6	0	3	2	1	2	2	1	3	3	3	2	0	4	1	4	0	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44104852C>T	ENST00000263776.8	+	13	1679	c.1245C>T	c.(1243-1245)gaC>gaT	p.D415D		NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	415							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TCTGGGTTGACTTGAGAAAGG	0.577													T	44104852	C	T	44104852	2	4	364	1	0	0	0	0	0	0	0	1	133	564	20	2		2	ACCS	11	44104852	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24710	44104852	90901664	8555	32057											
EXT2	2132	broad.mit.edu	37	chr11	44219462	44219462	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgccatagtcctcacctaCgaccgagtagagagcctctt	10	8	8	15	3	2	1	1	0	1	1	3	4	3	1	6	0	2	1	6	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44219462C>T	ENST00000395673.3	+	9	1544	c.1488C>T	c.(1486-1488)taC>taT	p.Y496Y	EXT2_ENST00000533608.1_Silent_p.Y463Y|EXT2_ENST00000343631.3_Silent_p.Y463Y|EXT2_ENST00000358681.4_Silent_p.Y473Y	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	463					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						TCCTCACCTACGACCGAGTAG	0.517			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				T	44219462	C	T	44219462	2	4	364	1	0	0	0	0	0	0	0	1	5366	547	19	1		1	EXT2	11	44219462	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114610	44219462	90787054	8556	32058											
EXT2	2132	broad.mit.edu	37	chr11	44255770	44255770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaacttcctggtggccaacGtcacgggaaaagcagttatc	11	9	11	10	2	1	1	1	1	0	0	3	2	2	2	2	3	3	2	2	3	5	2	rs145024832	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:44255770G>A	ENST00000395673.3	+	12	2067	c.2011G>A	c.(2011-2013)Gtc>Atc	p.V671I	EXT2_ENST00000533608.1_Missense_Mutation_p.V638I|EXT2_ENST00000343631.3_Missense_Mutation_p.V638I|EXT2_ENST00000358681.4_Missense_Mutation_p.V648I	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	638					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GGTGGCCAACGTCACGGGAAA	0.433			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				A	44255770	G	A	44255770	3	1	364	1	0	0	0	0	1	0	0	0	5366	1145	40	1	2154	1	EXT2	11	44255770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36308	44255770	90750746	8557	32059											
PRDM11	56981	broad.mit.edu	37	chr11	45203856	45203856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaactgaaggggaagcGcgacctcatcgtgcccaaaa	15	4	11	11	3	1	2	1	1	0	1	2	4	1	3	2	2	3	0	2	2	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45203856G>A	ENST00000263765.4	+	4	530	c.281G>A	c.(280-282)cGc>cAc	p.R94H	PRDM11_ENST00000424263.2_Missense_Mutation_p.R60H|PRDM11_ENST00000530656.1_Missense_Mutation_p.R94H			Q9NQV5	PRD11_HUMAN	PR domain containing 11	94										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						AAGGGGAAGCGCGACCTCATC	0.587													A	45203856	G	A	45203856	3	1	364	1	0	0	0	0	1	0	0	0	12538	1087	38	1	291	1	PRDM11	11	45203856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	948086	45203856	89802660	8558	32060											
PRDM11	56981	broad.mit.edu	37	chr11	45245842	45245842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaggggtcccattcatCtctctgtgctgagacagggc	7	10	12	12	0	3	2	1	2	2	1	5	3	4	2	2	3	1	1	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45245842C>A	ENST00000263765.4	+	8	1168	c.919C>A	c.(919-921)Ctc>Atc	p.L307I	PRDM11_ENST00000424263.2_Missense_Mutation_p.L273I|PRDM11_ENST00000530656.1_Missense_Mutation_p.L307I|CTD-2560E9.3_ENST00000527450.1_RNA|PRDM11_ENST00000528980.1_Intron			Q9NQV5	PRD11_HUMAN	PR domain containing 11	307										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						TCCCATTCATCTCTCTGTGCT	0.498													A	45245842	C	A	45245842	3	1	364	1	0	0	0	0	1	0	0	0	12538	913	32	4	945	4	PRDM11	11	45245842	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41986	45245842	89760674	8559	32061											
SYT13	57586	broad.mit.edu	37	chr11	45265741	45265741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctgccctgaatcgtcCtggcccagcacttccagctc	6	9	8	18	1	1	1	0	1	1	0	5	1	3	1	4	1	4	3	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45265741C>A	ENST00000020926.3	-	6	1254	c.1143G>T	c.(1141-1143)caG>caT	p.Q381H		NM_001247987.1|NM_020826.2	NP_001234916.1|NP_065877.1	Q7L8C5	SYT13_HUMAN	synaptotagmin XIII	381	C2 2.					transport vesicle				breast(1)|large_intestine(3)|lung(16)|ovary(1)|skin(2)	23						CTGAATCGTCCTGGCCCAGCA	0.607													A	45265741	C	A	45265741	3	1	364	1	0	0	0	0	1	0	0	0	15566	680	24	4	141	4	SYT13	11	45265741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19899	45265741	89740775	8560	32062											
SLC35C1	55343	broad.mit.edu	37	chr11	45827637	45827637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcctcagcgctctggcCgcctgctgccctggtgccgt	4	8	13	16	3	2	0	1	0	1	0	2	0	2	0	5	3	4	2	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45827637C>T	ENST00000314134.3	+	1	1681	c.285C>T	c.(283-285)gcC>gcT	p.A95A	SLC35C1_ENST00000456334.1_Silent_p.A82A|SLC35C1_ENST00000442528.2_Silent_p.A82A	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	95						Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity			endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		GCGCTCTGGCCGCCTGCTGCC	0.667													T	45827637	C	T	45827637	2	4	364	1	0	0	0	0	0	0	0	1	14673	639	23	1		1	SLC35C1	11	45827637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561896	45827637	89178879	8561	32063											
MAPK8IP1	9479	broad.mit.edu	37	chr11	45926110	45926110	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtcctctgtgctgctatgCaaaaggtacctgagccctct	8	11	9	13	1	2	1	0	1	2	0	3	1	3	1	3	1	5	4	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45926110C>T	ENST00000395629.2	+	8	2071	c.1741C>T	c.(1741-1743)Caa>Taa	p.Q581*	MAPK8IP1_ENST00000241014.2_Nonsense_Mutation_p.Q591*			Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	591	PID.				vesicle-mediated transport	nucleus|perinuclear region of cytoplasm	kinesin binding|MAP-kinase scaffold activity|protein kinase inhibitor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		TGCTGCTATGCAAAAGGTACC	0.592													T	45926110	C	T	45926110	4	4	364	1	0	0	0	0	0	1	0	0	9359	711	25	2	1801	2	MAPK8IP1	11	45926110	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98473	45926110	89080406	8562	32064											
PEX16	9409	broad.mit.edu	37	chr11	45935397	45935397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcggtcatagaaaggagagCgcagcaggtagtagagcagc	14	4	16	7	2	1	3	1	0	0	3	1	4	1	3	0	3	5	5	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935397C>T	ENST00000532681.1	-	9	1438	c.575G>A	c.(574-576)cGc>cAc	p.R192H	PEX16_ENST00000241041.3_Missense_Mutation_p.R287H|PEX16_ENST00000378750.5_Missense_Mutation_p.R287H			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	287					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		GAAAGGAGAGCGCAGCAGGTA	0.672													T	45935397	C	T	45935397	3	4	364	1	0	0	0	0	1	0	0	0	11820	768	27	1	255	1	PEX16	11	45935397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9287	45935397	89071119	8563	32065											
PEX16	9409	broad.mit.edu	37	chr11	45935911	45935911	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaaactctgcgatggtcTcctgcagccccaggggggtg	9	7	13	12	1	2	0	0	0	2	0	3	1	2	0	3	4	4	1	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45935911T>G	ENST00000532681.1	-	7	1228	c.365A>C	c.(364-366)gAg>gCg	p.E122A	PEX16_ENST00000241041.3_Missense_Mutation_p.E217A|PEX16_ENST00000532554.1_5'UTR|PEX16_ENST00000378750.5_Missense_Mutation_p.E217A			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16	217					ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCGATGGTCTCCTGCAGCCC	0.662													G	45935911	T	G	45935911	3	3	364	1	0	0	0	0	1	0	0	0	11820	1551	54	5	473	5	PEX16	11	45935911	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	514	45935911	89070605	8564	32066											
PEX16	9409	broad.mit.edu	37	chr11	45937384	45937384	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcttctgctgggacaGcgactgcaagaaccccaggc	10	5	12	14	1	1	1	0	0	1	1	1	3	1	2	2	2	6	4	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45937384G>T	ENST00000532681.1	-	0	807				PEX16_ENST00000241041.3_Missense_Mutation_p.L77M|PEX16_ENST00000532554.1_Intron|PEX16_ENST00000378750.5_Missense_Mutation_p.L77M			Q9Y5Y5	PEX16_HUMAN	peroxisomal biogenesis factor 16						ER-dependent peroxisome organization|peroxisome membrane biogenesis|protein import into peroxisome matrix|protein import into peroxisome membrane	endoplasmic reticulum membrane|integral to peroxisomal membrane	protein C-terminus binding			large_intestine(2)|lung(2)|ovary(2)|skin(1)	7				GBM - Glioblastoma multiforme(35;0.223)		TGCTGGGACAGCGACTGCAAG	0.612													T	45937384	G	T	45937384	1	4	364	1	0	0	0	0	0	0	0	0	11820	962	34	4		4	PEX16	11	45937384	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1473	45937384	89069132	8565	32067											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949768	45949768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacgcacccacagactatGcccgctggcgggaggctcag	8	4	13	16	3	1	1	1	0	0	1	1	2	1	2	3	3	1	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:45949768G>A	ENST00000531526.1	+	13	1906	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	GYLTL1B_ENST00000325468.5_Missense_Mutation_p.A599T|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.A568T|GYLTL1B_ENST00000401752.1_Missense_Mutation_p.A599T|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.A568T	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	599					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		CACAGACTATGCCCGCTGGCG	0.672													A	45949768	G	A	45949768	3	1	364	1	0	0	0	0	1	0	0	0	6962	1319	46	2	1841	2	GYLTL1B	11	45949768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12384	45949768	89056748	8566	32068											
DGKZ	8525	broad.mit.edu	37	chr11	46393986	46393986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcccatccagggtgcaaaGatcatccagtctttcctctg	9	11	7	14	0	3	1	1	0	2	1	7	1	7	1	4	1	1	1	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46393986G>T	ENST00000454345.1	+	12	1625	c.1500G>T	c.(1498-1500)aaG>aaT	p.K500N	DGKZ_ENST00000318201.8_Missense_Mutation_p.K289N|DGKZ_ENST00000456247.2_Missense_Mutation_p.K311N|DGKZ_ENST00000532868.2_Missense_Mutation_p.K316N|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000421244.2_Missense_Mutation_p.K312N|DGKZ_ENST00000527911.1_Missense_Mutation_p.K312N|DGKZ_ENST00000395574.3_Missense_Mutation_p.K278N|DGKZ_ENST00000343674.6_Missense_Mutation_p.K328N|DGKZ_ENST00000528615.1_Missense_Mutation_p.K90N	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	500	DAGKc.|Mediates interaction with RASGRP1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell migration|intracellular signal transduction|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of mitotic cell cycle|platelet activation	cytoplasm|lamellipodium|nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|lipid kinase activity|metal ion binding|protein binding|protein C-terminus binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		AGGGTGCAAAGATCATCCAGT	0.582													T	46393986	G	T	46393986	3	4	364	1	0	0	0	0	1	0	0	0	4513	933	33	4	1989	4	DGKZ	11	46393986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444218	46393986	88612530	8567	32069											
CHRM4	1132	broad.mit.edu	37	chr11	46407677	46407677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgccatcttggtggtgCgccgggcagggtaggtgaga	5	8	19	9	2	1	1	0	1	1	1	1	2	1	1	3	6	2	2	3	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46407677C>T	ENST00000433765.2	-	1	430	c.431G>A	c.(430-432)cGc>cAc	p.R144H		NM_000741.2	NP_000732.2	P08173	ACM4_HUMAN	cholinergic receptor, muscarinic 4	144					cell proliferation	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	20				GBM - Glioblastoma multiforme(35;0.0254)|Lung(87;0.14)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)|Tropicamide(DB00809)	CTTGGTGGTGCGCCGGGCAGG	0.582													T	46407677	C	T	46407677	3	4	364	1	0	0	0	0	1	0	0	0	3409	768	27	1	1012	1	CHRM4	11	46407677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13691	46407677	88598839	8568	32070											
AMBRA1	55626	broad.mit.edu	37	chr11	46564140	46564140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catctgactcagttgccaacCctgatgccggaaaacccctc	10	8	7	16	1	2	2	1	2	1	0	3	3	2	3	5	1	4	1	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46564140C>T	ENST00000458649.2	-	7	1845	c.1427G>A	c.(1426-1428)gGg>gAg	p.G476E	AMBRA1_ENST00000528950.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000426438.1_Missense_Mutation_p.G476E|AMBRA1_ENST00000533727.1_Missense_Mutation_p.G386E|AMBRA1_ENST00000314845.3_Missense_Mutation_p.G386E|AMBRA1_ENST00000298834.3_Missense_Mutation_p.G476E|AMBRA1_ENST00000534300.1_Missense_Mutation_p.G476E			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	476					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		AGTTGCCAACCCTGATGCCGG	0.547													T	46564140	C	T	46564140	3	4	364	1	0	0	0	0	1	0	0	0	565	623	22	2	2517	2	AMBRA1	11	46564140	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156463	46564140	88442376	8569	32071											
HARBI1	283254	broad.mit.edu	37	chr11	46637525	46637525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaatggcatctcccatcCgagtctggaaggaacctgag	10	9	10	12	1	2	1	0	1	2	0	5	4	4	3	4	3	1	1	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637525C>T	ENST00000326737.3	-	2	510	c.263G>A	c.(262-264)cGg>cAg	p.R88Q		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	88						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						ATCTCCCATCCGAGTCTGGAA	0.502													T	46637525	C	T	46637525	3	4	364	1	0	0	0	0	1	0	0	0	7013	652	23	1	794	1	HARBI1	11	46637525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73385	46637525	88368991	8570	32072											
HARBI1	283254	broad.mit.edu	37	chr11	46637623	46637623	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgagtaggcctagaaagattCgcccccaagagctccaccaa	13	6	9	13	1	0	4	0	1	0	3	2	4	1	4	5	1	1	2	5	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46637623C>T	ENST00000326737.3	-	2	412	c.165G>A	c.(163-165)gcG>gcA	p.A55A		NM_173811.3	NP_776172.1	Q96MB7	HARB1_HUMAN	harbinger transposase derived 1	55						cytoplasm|nucleus	metal ion binding|nuclease activity			large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	3						TAGAAAGATTCGCCCCCAAGA	0.483													T	46637623	C	T	46637623	2	4	364	1	0	0	0	0	0	0	0	1	7013	871	31	1		1	HARBI1	11	46637623	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98	46637623	88368893	8571	32073											
ZNF408	79797	broad.mit.edu	37	chr11	46726700	46726700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaaccagggctccctgCggaaccatatgaggctccat	9	7	11	14	1	0	1	0	1	0	0	2	2	2	2	5	4	3	2	5	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46726700C>T	ENST00000311764.2	+	5	1680	c.1450C>T	c.(1450-1452)Cgg>Tgg	p.R484W		NM_001184751.1|NM_024741.2	NP_001171680.1|NP_079017.1	Q9H9D4	ZN408_HUMAN	zinc finger protein 408	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|identical protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCTCCCTGCGGAACCATAT	0.667													T	46726700	C	T	46726700	3	4	364	1	0	0	0	0	1	0	0	0	17989	759	27	1	1500	1	ZNF408	11	46726700	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89077	46726700	88279816	8572	32074											
CKAP5	9793	broad.mit.edu	37	chr11	46773018	46773018	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaatgtggatatccaGaagaattctgtctaggttaa	15	12	9	5	0	2	3	0	1	2	2	3	4	3	4	1	2	0	1	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46773018G>T	ENST00000529230.1	-	39	5246	c.5200C>A	c.(5200-5202)Ctg>Atg	p.L1734M	CKAP5_ENST00000415402.1_Missense_Mutation_p.L1734M|CKAP5_ENST00000354558.3_Missense_Mutation_p.L1674M|CKAP5_ENST00000312055.5_Missense_Mutation_p.L1674M			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1734					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TGGATATCCAGAAGAATTCTG	0.398													T	46773018	G	T	46773018	3	4	364	1	0	0	0	0	1	0	0	0	3476	933	33	4	922	4	CKAP5	11	46773018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46318	46773018	88233498	8573	32075											
CKAP5	9793	broad.mit.edu	37	chr11	46791594	46791594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtggagcaggcttggctgGcatgttaactttggctttct	5	14	15	7	0	1	0	0	0	1	0	1	1	1	1	0	6	2	6	0	6	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46791594G>A	ENST00000529230.1	-	26	3287	c.3241C>T	c.(3241-3243)Cca>Tca	p.P1081S	CKAP5_ENST00000415402.1_Missense_Mutation_p.P1081S|CKAP5_ENST00000354558.3_Missense_Mutation_p.P1081S|CKAP5_ENST00000312055.5_Missense_Mutation_p.P1081S			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1081					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						GGCTTGGCTGGCATGTTAACT	0.443													A	46791594	G	A	46791594	3	1	364	1	0	0	0	0	1	0	0	0	3476	1203	42	2	2933	2	CKAP5	11	46791594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18576	46791594	88214922	8574	32076											
CKAP5	9793	broad.mit.edu	37	chr11	46812059	46812059	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttctttagtctccagtccTttcttgttcttggttccagt	4	21	6	10	0	4	0	0	0	4	0	7	0	6	0	3	1	0	2	3	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46812059T>A	ENST00000529230.1	-	14	1771	c.1725A>T	c.(1723-1725)aaA>aaT	p.K575N	CKAP5_ENST00000415402.1_Missense_Mutation_p.K575N|CKAP5_ENST00000354558.3_Missense_Mutation_p.K575N|CKAP5_ENST00000312055.5_Missense_Mutation_p.K575N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	575					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCTCCAGTCCTTTCTTGTTCT	0.443													A	46812059	T	A	46812059	3	1	364	1	0	0	0	0	1	0	0	0	3476	1606	56	5	4497	5	CKAP5	11	46812059	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20465	46812059	88194457	8575	32077											
LRP4	4038	broad.mit.edu	37	chr11	46895013	46895013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaccatccagcctggacGcctcaatggtatttcgacct	10	9	9	13	2	1	0	1	0	0	0	3	3	2	2	5	3	2	1	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46895013G>A	ENST00000378623.1	-	29	4603	c.4361C>T	c.(4360-4362)gCg>gTg	p.A1454V	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1454					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGCCTGGACGCCTCAATGGT	0.572													A	46895013	G	A	46895013	3	1	364	1	0	0	0	0	1	0	0	0	9029	1087	38	1	1396	1	LRP4	11	46895013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82954	46895013	88111503	8576	32078											
LRP4	4038	broad.mit.edu	37	chr11	46898317	46898317	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgatgatgtcctcatgCtgtgagccatccagattggc	7	12	13	9	0	1	4	1	3	0	1	3	4	3	4	3	2	2	1	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46898317C>A	ENST00000378623.1	-	24	3584	c.3342G>T	c.(3340-3342)caG>caT	p.Q1114H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1114					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TGTCCTCATGCTGTGAGCCAT	0.542													A	46898317	C	A	46898317	3	1	364	1	0	0	0	0	1	0	0	0	9029	796	28	4	2435	4	LRP4	11	46898317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3304	46898317	88108199	8577	32079											
LRP4	4038	broad.mit.edu	37	chr11	46903448	46903448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaccccagtcagtccaataCatgtacctgggcaaaggcaa	13	6	9	13	0	1	0	1	0	0	0	2	0	2	0	4	2	2	4	4	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46903448C>T	ENST00000378623.1	-	20	2861	c.2619G>A	c.(2617-2619)atG>atA	p.M873I		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	873					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTCCAATACATGTACCTGG	0.512													T	46903448	C	T	46903448	3	4	364	1	0	0	0	0	1	0	0	0	9029	478	17	2	3174	2	LRP4	11	46903448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5131	46903448	88103068	8578	32080											
LRP4	4038	broad.mit.edu	37	chr11	46911497	46911497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtgggcagttttttacctGcaggttggcgctgggggtgc	3	12	18	8	2	0	0	0	0	0	0	0	0	0	0	1	6	3	5	1	6	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46911497G>A	ENST00000378623.1	-	15	2332	c.2090C>T	c.(2089-2091)gCa>gTa	p.A697V		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	697					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		TTTTTTACCTGCAGGTTGGCG	0.517											OREG0020948	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46911497	G	A	46911497	3	1	364	1	0	0	0	0	1	0	0	0	9029	1319	46	2	3723	2	LRP4	11	46911497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8049	46911497	88095019	8579	32081											
LRP4	4038	broad.mit.edu	37	chr11	46920468	46920468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacagcagtcagactcGtctgaccagtctccacagtc	10	9	7	15	1	4	2	2	1	2	1	7	2	4	2	2	0	2	1	2	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46920468G>A	ENST00000378623.1	-	6	905	c.663C>T	c.(661-663)gaC>gaT	p.D221D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	221	LDL-receptor class A 5.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		AGTCAGACTCGTCTGACCAGT	0.627													A	46920468	G	A	46920468	2	1	364	1	0	0	0	0	0	0	0	1	9029	1136	40	1		1	LRP4	11	46920468	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8971	46920468	88086048	8580	32082											
LRP4	4038	broad.mit.edu	37	chr11	46921053	46921053	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcggagcacttgcgcatGtctggggggatgcgatggga	6	10	18	7	3	1	0	0	0	1	0	2	4	1	3	0	5	3	2	0	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921053G>A	ENST00000378623.1	-	5	674	c.432C>T	c.(430-432)gaC>gaT	p.D144D		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	144	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		ACTTGCGCATGTCTGGGGGGA	0.607													A	46921053	G	A	46921053	5	1	364	1	0	0	0	0	0	0	1	0	9029	1391	48	2	5421	2	LRP4	11	46921053	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	585	46921053	88085463	8581	32083											
LRP4	4038	broad.mit.edu	37	chr11	46921489	46921489	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccggatgcagtagccatTctggcagggaaactcgtcct	9	9	11	12	2	1	0	0	0	1	0	4	2	3	2	3	3	3	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:46921489T>G	ENST00000378623.1	-	4	597	c.355A>C	c.(355-357)Aat>Cat	p.N119H		NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	119	LDL-receptor class A 3.				endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		CAGTAGCCATTCTGGCAGGGA	0.632													G	46921489	T	G	46921489	3	3	364	1	0	0	0	0	1	0	0	0	9029	1783	62	5	5502	5	LRP4	11	46921489	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	436	46921489	88085027	8582	32084											
C11orf49	79096	broad.mit.edu	37	chr11	47074068	47074068	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactgtgggcaaaaatggCggtaagtcttcccaaattct	12	10	10	9	2	2	0	0	0	2	0	3	1	3	0	1	3	1	2	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47074068C>T	ENST00000395460.2	+	3	317	c.279C>T	c.(277-279)ggC>ggT	p.G93G	C11orf49_ENST00000543718.1_Intron|C11orf49_ENST00000527268.1_3'UTR|C11orf49_ENST00000378615.3_Splice_Site_p.G93G|C11orf49_ENST00000536126.1_5'UTR|C11orf49_ENST00000278460.7_Splice_Site_p.G93G|C11orf49_ENST00000378618.2_Splice_Site_p.G93G	NM_001003676.1	NP_001003676.1	Q9H6J7	CK049_HUMAN	chromosome 11 open reading frame 49	93										central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(1)	11						GCAAAAATGGCGGTAAGTCTT	0.463													T	47074068	C	T	47074068	5	4	364	1	0	0	0	0	0	0	1	0	1657	782	27	1	289	1	C11orf49	11	47074068	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152579	47074068	87932448	8583	32085											
PACSIN3	29763	broad.mit.edu	37	chr11	47201080	47201080	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgttccatgtcctccaTgtagcgtggagtgtagcgat	6	12	13	10	2	0	0	0	0	0	0	3	2	3	1	4	2	2	3	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47201080T>C	ENST00000539589.1	-	7	1003	c.661A>G	c.(661-663)Atg>Gtg	p.M221V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.M221V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	221					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						ATGTCCTCCATGTAGCGTGGA	0.577											OREG0020952	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	47201080	T	C	47201080	3	2	364	1	0	0	0	0	1	0	0	0	11452	1464	51	3	633	3	PACSIN3	11	47201080	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	127012	47201080	87805436	8584	32086											
PACSIN3	29763	broad.mit.edu	37	chr11	47202229	47202229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccaggccttctccagtgtgCcatactgggggcctgcaggg	5	8	15	13	0	1	0	0	0	1	0	2	0	1	0	5	4	3	1	5	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47202229C>A	ENST00000539589.1	-	5	566	c.224G>T	c.(223-225)gGc>gTc	p.G75V	PACSIN3_ENST00000298838.6_Missense_Mutation_p.G75V	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	75					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						CTCCAGTGTGCCATACTGGGG	0.642													A	47202229	C	A	47202229	3	1	364	1	0	0	0	0	1	0	0	0	11452	739	26	4	1078	4	PACSIN3	11	47202229	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1149	47202229	87804287	8585	32087											
DDB2	1643	broad.mit.edu	37	chr11	47256422	47256422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaatttgggacctgCgccaggttagagggaaagcc	12	7	14	8	1	0	2	0	1	0	1	0	4	0	4	3	3	2	1	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47256422C>T	ENST00000256996.4	+	6	1012	c.817C>T	c.(817-819)Cgc>Tgc	p.R273C	DDB2_ENST00000378601.3_Intron|DDB2_ENST00000378603.3_Missense_Mutation_p.R209C|DDB2_ENST00000378600.3_Intron	NM_000107.2	NP_000098.1	Q92466	DDB2_HUMAN	damage-specific DNA binding protein 2, 48kDa	273			R -> H (in XP-E; impairs interaction with DDB1 and CUL4A).		nucleotide-excision repair, DNA damage removal|protein autoubiquitination|protein polyubiquitination|response to UV	nucleoplasm|protein complex	damaged DNA binding|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(1)	17						TTGGGACCTGCGCCAGGTTAG	0.537			"Mis, N"			"skin basal cell, skin squamous cell, melanoma"		Direct reversal of damage;Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	47256422	C	T	47256422	3	4	364	1	0	0	0	0	1	0	0	0	4358	768	27	1	839	1	DDB2	11	47256422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54193	47256422	87750094	8586	32088											
NR1H3	10062	broad.mit.edu	37	chr11	47282170	47282170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggacacctacatgcgtcGcaagtgccaggagtgtcggc	9	7	13	12	3	0	0	0	0	0	0	2	2	0	2	2	3	3	1	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282170G>A	ENST00000467728.1	+	3	1681	c.443G>A	c.(442-444)cGc>cAc	p.R148H	NR1H3_ENST00000527949.1_Missense_Mutation_p.R57H|NR1H3_ENST00000395397.3_Missense_Mutation_p.R103H|NR1H3_ENST00000407404.1_Missense_Mutation_p.R148H|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R148H|NR1H3_ENST00000481889.2_Missense_Mutation_p.R103H|NR1H3_ENST00000441012.2_Missense_Mutation_p.R148H|NR1H3_ENST00000405576.1_Missense_Mutation_p.R103H			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	148					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TACATGCGTCGCAAGTGCCAG	0.622													A	47282170	G	A	47282170	3	1	364	1	0	0	0	0	1	0	0	0	10694	1087	38	1	453	1	NR1H3	11	47282170	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25748	47282170	87724346	8587	32089											
NR1H3	10062	broad.mit.edu	37	chr11	47282815	47282815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtcagaagaacagatcCgcctgaagaaactgaagcgg	14	6	11	10	2	1	6	1	2	0	4	3	6	3	6	3	1	3	0	3	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47282815C>T	ENST00000467728.1	+	4	1761	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	NR1H3_ENST00000527949.1_Missense_Mutation_p.R84C|NR1H3_ENST00000395397.3_Missense_Mutation_p.R130C|NR1H3_ENST00000407404.1_Missense_Mutation_p.R175C|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405853.3_Missense_Mutation_p.R175C|NR1H3_ENST00000481889.2_Missense_Mutation_p.R130C|NR1H3_ENST00000441012.2_Missense_Mutation_p.R175C|NR1H3_ENST00000405576.1_Missense_Mutation_p.R130C			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	175					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AGAACAGATCCGCCTGAAGAA	0.597													T	47282815	C	T	47282815	3	4	364	1	0	0	0	0	1	0	0	0	10694	652	23	1	537	1	NR1H3	11	47282815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	645	47282815	87723701	8588	32090											
CELF1	10658	broad.mit.edu	37	chr11	47493832	47493832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgagctgcactttaagccGcttcatgccaatctgaaagc	10	12	8	11	1	2	2	1	2	1	0	2	2	2	2	2	0	5	3	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47493832G>A	ENST00000395290.2	-	12	1417	c.1408C>T	c.(1408-1410)Cgg>Tgg	p.R470W	CELF1_ENST00000539455.1_5'UTR|CELF1_ENST00000532048.1_Missense_Mutation_p.R497W|CELF1_ENST00000358597.3_Missense_Mutation_p.R471W|CELF1_ENST00000361904.3_Missense_Mutation_p.R468W|CELF1_ENST00000310513.5_Missense_Mutation_p.R467W|CELF1_ENST00000531165.1_Missense_Mutation_p.R499W|CELF1_ENST00000395292.2_Missense_Mutation_p.R468W	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	471	RRM 3.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						ACTTTAAGCCGCTTCATGCCA	0.517													A	47493832	G	A	47493832	3	1	364	1	0	0	0	0	1	0	0	0	3245	1086	38	1	53	1	CELF1	11	47493832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211017	47493832	87512684	8589	32091											
KBTBD4	55709	broad.mit.edu	37	chr11	47599055	47599055	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtcttggcacagtgcttgGcagccgtatagagctcagga	8	9	15	9	1	2	1	1	0	1	1	2	2	2	2	1	4	3	5	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47599055G>T	ENST00000533290.1	-	1	1286	c.572C>A	c.(571-573)gCc>gAc	p.A191D	KBTBD4_ENST00000525720.1_Missense_Mutation_p.A215D|KBTBD4_ENST00000526005.1_Missense_Mutation_p.A166D|KBTBD4_ENST00000395288.2_Missense_Mutation_p.A166D|KBTBD4_ENST00000430070.2_Missense_Mutation_p.A182D|NDUFS3_ENST00000533507.1_Intron			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	166	BACK.									NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						ACAGTGCTTGGCAGCCGTATA	0.542													T	47599055	G	T	47599055	3	4	364	1	0	0	0	0	1	0	0	0	8053	1203	42	4	1071	4	KBTBD4	11	47599055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105223	47599055	87407461	8590	32092											
MTCH2	23788	broad.mit.edu	37	chr11	47640456	47640456	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaaaataagctatttcCtcggctcatattcccctgga	11	11	7	12	2	1	0	1	0	0	0	4	2	3	2	4	3	1	2	4	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47640456C>A	ENST00000302503.3	-	13	998	c.841G>T	c.(841-843)Gga>Tga	p.G281*	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Nonsense_Mutation_p.G133*	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	281					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGCTATTTCCTCGGCTCATA	0.413													A	47640456	C	A	47640456	4	1	364	1	0	0	0	0	0	1	0	0	9990	690	24	4	74	4	MTCH2	11	47640456	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41401	47640456	87366060	8591	32093											
MTCH2	23788	broad.mit.edu	37	chr11	47647241	47647241	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccacagttgttgacaGccataagattggagacaagc	13	9	9	10	0	0	3	0	1	0	2	0	4	0	3	2	1	3	2	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47647241G>T	ENST00000302503.3	-	11	891	c.734C>A	c.(733-735)gCt>gAt	p.A245D	MTCH2_ENST00000534074.1_5'UTR|MTCH2_ENST00000542981.1_Missense_Mutation_p.A97D	NM_014342.3	NP_055157.1	Q9Y6C9	MTCH2_HUMAN	mitochondrial carrier 2	245					transport	integral to membrane|mitochondrial inner membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	11						GTTGTTGACAGCCATAAGATT	0.403													T	47647241	G	T	47647241	3	4	364	1	0	0	0	0	1	0	0	0	9990	971	34	4	189	4	MTCH2	11	47647241	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6785	47647241	87359275	8592	32094											
AGBL2	79841	broad.mit.edu	37	chr11	47707455	47707455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgcttaccttatctggtGcatttttgcataacattaaa	11	17	6	7	0	1	0	0	0	1	0	1	0	1	0	1	1	5	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47707455G>A	ENST00000525123.1	-	11	2063	c.1778C>T	c.(1777-1779)gCa>gTa	p.A593V	AGBL2_ENST00000357610.3_Missense_Mutation_p.A593V|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Missense_Mutation_p.A555V|AGBL2_ENST00000298861.4_Missense_Mutation_p.A593V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	593					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CTTATCTGGTGCATTTTTGCA	0.358													A	47707455	G	A	47707455	3	1	364	1	0	0	0	0	1	0	0	0	376	1319	46	2	966	2	AGBL2	11	47707455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60214	47707455	87299061	8593	32095											
FNBP4	23360	broad.mit.edu	37	chr11	47767694	47767694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattggacaacactgcaaaGatcctcctgagaagggtctt	13	9	10	9	0	1	3	0	1	1	3	3	5	3	4	2	2	2	1	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47767694G>T	ENST00000263773.5	-	7	1171	c.1159C>A	c.(1159-1161)Ctt>Att	p.L387I	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	387										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						ACACTGCAAAGATCCTCCTGA	0.383													T	47767694	G	T	47767694	3	4	364	1	0	0	0	0	1	0	0	0	6016	942	33	4	1938	4	FNBP4	11	47767694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60239	47767694	87238822	8594	32096											
NUP160	23279	broad.mit.edu	37	chr11	47819386	47819386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagaagttcatagtaattGtgagtcataaggtccacagc	14	11	9	7	0	2	2	2	1	0	1	3	2	3	2	1	1	2	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47819386G>A	ENST00000378460.2	-	27	3280	c.3234C>T	c.(3232-3234)caC>caT	p.H1078H	NUP160_ENST00000530326.1_Silent_p.H964H|NUP160_ENST00000528071.1_Silent_p.H964H	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	1078					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CATAGTAATTGTGAGTCATAA	0.433													A	47819386	G	A	47819386	2	1	364	1	0	0	0	0	0	0	0	1	10833	1368	48	2		2	NUP160	11	47819386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51692	47819386	87187130	8595	32097											
NUP160	23279	broad.mit.edu	37	chr11	47858490	47858490	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacacaaagcaaagatgaaGgcatcatgctccacacaatg	17	6	8	10	0	1	3	1	2	0	1	2	3	2	3	1	1	2	3	1	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:47858490G>T	ENST00000378460.2	-	6	937	c.891C>A	c.(889-891)gcC>gcA	p.A297A	NUP160_ENST00000530326.1_Silent_p.A183A|NUP160_ENST00000528071.1_Silent_p.A183A|NUP160_ENST00000532747.1_3'UTR	NM_015231.1	NP_056046.1	Q12769	NU160_HUMAN	nucleoporin 160kDa	297					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|biliary_tract(2)|breast(7)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(6)|prostate(2)|skin(2)|urinary_tract(2)	53						CAAAGATGAAGGCATCATGCT	0.418													T	47858490	G	T	47858490	2	4	364	1	0	0	0	0	0	0	0	1	10833	987	35	4		4	NUP160	11	47858490	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39104	47858490	87148026	8596	32098											
PTPRJ	5795	broad.mit.edu	37	chr11	48166412	48166412	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggttattacaatgggAagctggaacctctgggctcc	9	11	11	10	0	1	0	0	0	1	0	2	2	2	2	2	4	3	3	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48166412A>C	ENST00000418331.2	+	13	3113	c.2761A>C	c.(2761-2763)Aag>Cag	p.K921Q		NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	921				YNGKLEPLGSYR -> LQWEAGTSGLLP (in Ref. 2; BAA07035).	contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTACAATGGGAAGCTGGAACC	0.458													C	48166412	A	C	48166412	3	2	364	1	0	0	0	0	1	0	0	0	12892	247	9	5	2820	5	PTPRJ	11	48166412	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	307922	48166412	86840104	8597	32099											
OR4X2	119764	broad.mit.edu	37	chr11	48267442	48267442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctgcccatagacaagatgGtggctgtgttctacacagtg	9	11	11	10	0	2	2	0	0	2	2	2	2	2	2	1	2	2	2	1	2	3	3	rs137858399	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48267442G>A	ENST00000302329.3	+	1	835	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	263					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGACAAGATGGTGGCTGTGTT	0.507													A	48267442	G	A	48267442	3	1	364	1	0	0	0	0	1	0	0	0	11161	1261	44	2	789	2	OR4X2	11	48267442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101030	48267442	86739074	8598	32100											
OR4A47	403253	broad.mit.edu	37	chr11	48511062	48511062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctctcaacctgcagtTcccacatgactgtggttgtc	8	11	8	14	0	1	1	1	1	1	0	4	1	2	1	3	1	3	3	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:48511062T>C	ENST00000446524.1	+	1	794	c.718T>C	c.(718-720)Tcc>Ccc	p.S240P		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						AACCTGCAGTTCCCACATGAC	0.413													C	48511062	T	C	48511062	3	2	364	1	0	0	0	0	1	0	0	0	11118	1783	62	3	720	3	OR4A47	11	48511062	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	243620	48511062	86495454	8599	32101											
FOLH1	2346	broad.mit.edu	37	chr11	49207246	49207246	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtaacctggtgtgagAgggtctcctgcaccattcag	7	10	14	10	0	2	1	1	1	1	1	3	2	2	1	3	3	2	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207246A>G	ENST00000340334.7	-	7	1124	c.756T>C	c.(754-756)ccT>ccC	p.P252P	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Silent_p.P267P|FOLH1_ENST00000256999.2_Silent_p.P267P|FOLH1_ENST00000533034.1_Silent_p.P252P	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	267					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CTGGTGTGAGAGGGTCTCCTG	0.423													G	49207246	A	G	49207246	2	3	364	1	0	0	0	0	0	0	0	1	6028	291	11	3		3	FOLH1	11	49207246	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	696184	49207246	85799270	8600	32102											
FOLH1	2346	broad.mit.edu	37	chr11	49207305	49207305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacaccacctccaggaaGattccaaccatctggatagg	12	7	9	13	0	1	1	0	0	1	1	3	4	3	4	5	4	1	0	5	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49207305G>A	ENST00000340334.7	-	7	1065	c.697C>T	c.(697-699)Ctt>Ttt	p.L233F	FOLH1_ENST00000343844.4_Intron|FOLH1_ENST00000356696.3_Missense_Mutation_p.L248F|FOLH1_ENST00000256999.2_Missense_Mutation_p.L248F|FOLH1_ENST00000533034.1_Missense_Mutation_p.L233F	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	248					proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity	p.L248V(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTCCAGGAAGATTCCAACCA	0.507													A	49207305	G	A	49207305	3	1	364	1	0	0	0	0	1	0	0	0	6028	942	33	2	1566	2	FOLH1	11	49207305	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59	49207305	85799211	8601	32103											
OR4C13	283092	broad.mit.edu	37	chr11	49974251	49974251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaagactatcttattcAatggatgtatgactcaagtc	16	12	6	7	0	3	2	2	1	1	1	4	3	3	3	0	1	1	1	0	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:49974251A>G	ENST00000555099.1	+	1	309	c.277A>G	c.(277-279)Aat>Gat	p.N93D		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TATCTTATTCAATGGATGTAT	0.408													G	49974251	A	G	49974251	3	3	364	1	0	0	0	0	1	0	0	0	11123	130	5	3	279	3	OR4C13	11	49974251	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	766946	49974251	85032265	8602	32104											
OR4A5	81318	broad.mit.edu	37	chr11	51411583	51411583	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgtgtgataatggtataAaacacagtcatgaacttatc	15	13	8	5	0	1	2	1	2	0	0	2	2	1	2	0	1	2	1	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:51411583A>C	ENST00000319760.6	-	1	865	c.813T>G	c.(811-813)ttT>ttG	p.F271L		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TAATGGTATAAAACACAGTCA	0.348													C	51411583	A	C	51411583	3	2	364	1	0	0	0	0	1	0	0	0	11119	11	1	5	138	5	OR4A5	11	51411583	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1437332	51411583	83594933	8603	32105											
OR4A16	81327	broad.mit.edu	37	chr11	55110872	55110872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttgcctacttgtcaCttatggatgccatatattcc	7	17	5	12	0	2	0	1	0	1	0	4	1	4	1	4	1	3	0	4	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55110872C>T	ENST00000314721.2	+	1	246	c.196C>T	c.(196-198)Ctt>Ttt	p.L66F		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						CTACTTGTCACTTATGGATGC	0.448													T	55110872	C	T	55110872	3	4	364	1	0	0	0	0	1	0	0	0	11117	565	20	2	198	2	OR4A16	11	55110872	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3699289	55110872	79895644	8604	32106											
OR4C15	81309	broad.mit.edu	37	chr11	55321882	55321882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgaagcaaattttcCtttgtcctaattgcagacta	11	16	6	8	0	1	3	0	2	1	1	3	3	3	3	2	0	2	2	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321882C>T	ENST00000314644.2	+	1	100	c.100C>T	c.(100-102)Ctt>Ttt	p.L34F		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	0					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GCAAATTTTCCTTTGTCCTAA	0.368										HNSCC(20;0.049)			T	55321882	C	T	55321882	3	4	364	1	0	0	0	0	1	0	0	0	11124	681	24	2	102	2	OR4C15	11	55321882	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211010	55321882	79684634	8605	32107											
OR4C15	81309	broad.mit.edu	37	chr11	55321995	55321995	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcctgggactttcacaGaatccaaatgttcaggaaat	12	11	8	10	0	2	1	2	0	0	1	5	3	5	3	3	2	0	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55321995G>T	ENST00000314644.2	+	1	213	c.213G>T	c.(211-213)caG>caT	p.Q71H		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						GACTTTCACAGAATCCAAATG	0.403										HNSCC(20;0.049)			T	55321995	G	T	55321995	3	4	364	1	0	0	0	0	1	0	0	0	11124	933	33	4	215	4	OR4C15	11	55321995	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113	55321995	79684521	8606	32108											
OR5D13	390142	broad.mit.edu	37	chr11	55541189	55541189	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggttgtggaatacagAaccatctctttctctggttg	9	15	9	8	0	2	1	0	0	2	1	4	2	2	2	1	3	3	2	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541189A>G	ENST00000361760.1	+	1	276	c.276A>G	c.(274-276)agA>agG	p.R92R		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	92					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGGAATACAGAACCATCTCTT	0.398													G	55541189	A	G	55541189	2	3	364	1	0	0	0	0	0	0	0	1	11230	243	9	3		3	OR5D13	11	55541189	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	219194	55541189	79465327	8607	32109											
OR5D13	390142	broad.mit.edu	37	chr11	55541339	55541339	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actattatgtctcagaagctCtgtgctcttctggtggctgg	6	15	11	9	0	4	1	1	0	4	1	5	1	4	1	0	3	2	3	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541339C>A	ENST00000361760.1	+	1	426	c.426C>A	c.(424-426)ctC>ctA	p.L142L		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				CTCAGAAGCTCTGTGCTCTTC	0.433													A	55541339	C	A	55541339	2	1	364	1	0	0	0	0	0	0	0	1	11230	900	32	4		4	OR5D13	11	55541339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150	55541339	79465177	8608	32110											
OR5D13	390142	broad.mit.edu	37	chr11	55541585	55541585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatcatatatgcttattttCactaccattatgaagatgcg	13	15	5	8	1	2	2	2	1	0	1	2	2	2	2	1	0	3	1	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55541585C>T	ENST00000361760.1	+	1	672	c.672C>T	c.(670-672)ttC>ttT	p.F224F		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCTTATTTTCACTACCATTA	0.438													T	55541585	C	T	55541585	2	4	364	1	0	0	0	0	0	0	0	1	11230	825	29	2		2	OR5D13	11	55541585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246	55541585	79464931	8609	32111											
OR5D14	219436	broad.mit.edu	37	chr11	55563455	55563455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccatgtcacagaggCtctgtgccctgctggtggct	5	10	14	12	0	2	1	1	0	1	1	2	1	2	1	2	4	2	3	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55563455C>T	ENST00000335605.1	+	1	424	c.424C>T	c.(424-426)Ctc>Ttc	p.L142F		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				GTCACAGAGGCTCTGTGCCCT	0.522													T	55563455	C	T	55563455	3	4	364	1	0	0	0	0	1	0	0	0	11231	797	28	2	426	2	OR5D14	11	55563455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21870	55563455	79443061	8610	32112											
OR5L2	26338	broad.mit.edu	37	chr11	55595089	55595089	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctgtaaccccctgctgtAcatggtgaccatgtctcaga	9	11	8	13	0	2	2	1	1	2	1	3	2	2	2	3	1	3	3	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55595089A>G	ENST00000378397.1	+	1	395	c.395A>G	c.(394-396)tAc>tGc	p.Y132C		NM_001004739.1	NP_001004739.1	Q8NGL0	OR5L2_HUMAN	olfactory receptor, family 5, subfamily L, member 2	132					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(1)|lung(42)|ovary(1)|prostate(3)|skin(1)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	59		all_epithelial(135;0.208)				CCCCTGCTGTACATGGTGACC	0.527										HNSCC(27;0.073)			G	55595089	A	G	55595089	3	3	364	1	0	0	0	0	1	0	0	0	11247	391	14	3	397	3	OR5L2	11	55595089	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31634	55595089	79411427	8611	32113											
OR5D16	390144	broad.mit.edu	37	chr11	55606806	55606806	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatcactctcttaccctgaCtcttatctcagccagttgct	8	15	4	14	0	4	1	2	1	3	0	6	1	4	1	2	0	3	2	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55606806C>A	ENST00000378396.1	+	1	579	c.579C>A	c.(577-579)gaC>gaA	p.D193E		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CTTACCCTGACTCTTATCTCA	0.393													A	55606806	C	A	55606806	3	1	364	1	0	0	0	0	1	0	0	0	11232	564	20	4	581	4	OR5D16	11	55606806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11717	55606806	79399710	8612	32114											
OR5W2	390148	broad.mit.edu	37	chr11	55681569	55681569	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacagaagcataggcggaAggccagtgtcatatgtatca	13	7	11	10	1	2	1	2	0	0	1	2	2	2	2	2	3	1	2	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55681569A>C	ENST00000344514.1	-	1	489	c.490T>G	c.(490-492)Ttc>Gtc	p.F164V		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CATAGGCGGAAGGCCAGTGTC	0.433													C	55681569	A	C	55681569	3	2	364	1	0	0	0	0	1	0	0	0	11261	72	3	5	444	5	OR5W2	11	55681569	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	74763	55681569	79324947	8613	32115											
OR5F1	338674	broad.mit.edu	37	chr11	55761475	55761475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaggatgacaagcagagtCcccacaatattcacaccagc	15	5	9	12	0	1	3	1	1	0	2	2	5	2	4	3	1	2	1	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761475C>T	ENST00000278409.1	-	1	626	c.627G>A	c.(625-627)ggG>ggA	p.G209G		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAAGCAGAGTCCCCACAATAT	0.473													T	55761475	C	T	55761475	2	4	364	1	0	0	0	0	0	0	0	1	11234	842	30	2		2	OR5F1	11	55761475	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79906	55761475	79245041	8614	32116											
OR5F1	338674	broad.mit.edu	37	chr11	55761668	55761668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaaaagccccggctGccatttttaggtagacggtc	9	9	11	12	2	0	1	0	0	0	1	1	1	0	1	3	3	4	4	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55761668G>T	ENST00000278409.1	-	1	433	c.434C>A	c.(433-435)gCa>gAa	p.A145E		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					AGCCCCGGCTGCCATTTTTAG	0.502													T	55761668	G	T	55761668	3	4	364	1	0	0	0	0	1	0	0	0	11234	1319	46	4	513	4	OR5F1	11	55761668	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193	55761668	79244848	8615	32117											
OR5F1	338674	broad.mit.edu	37	chr11	55762081	55762081	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacgaactcagtcagtgaGgtataattttttctggtcat	11	14	10	6	1	4	1	3	1	1	0	4	3	4	2	0	3	1	1	0	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55762081G>T	ENST00000278409.1	-	1	20	c.21C>A	c.(19-21)acC>acA	p.T7T		NM_003697.1	NP_003688.1	O95221	OR5F1_HUMAN	olfactory receptor, family 5, subfamily F, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|kidney(1)|large_intestine(11)|liver(1)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	58	Esophageal squamous(21;0.00448)					CAGTCAGTGAGGTATAATTTT	0.308													T	55762081	G	T	55762081	2	4	364	1	0	0	0	0	0	0	0	1	11234	987	35	4		4	OR5F1	11	55762081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	413	55762081	79244435	8616	32118											
OR8I2	120586	broad.mit.edu	37	chr11	55861327	55861327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttttttgtgacaccacaGctcttttagcactctcctgt	7	18	5	11	0	2	1	0	1	2	0	3	1	2	1	2	0	2	2	2	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55861327G>T	ENST00000302124.2	+	1	575	c.544G>T	c.(544-546)Gct>Tct	p.A182S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	182					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TGACACCACAGCTCTTTTAGC	0.428													T	55861327	G	T	55861327	3	4	364	1	0	0	0	0	1	0	0	0	11316	971	34	4	546	4	OR8I2	11	55861327	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99246	55861327	79145189	8617	32119											
OR8H2	390151	broad.mit.edu	37	chr11	55872744	55872744	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttattgacctcagttactcaActgtcgtcacacctaaaacc	12	12	4	13	1	3	1	3	1	0	0	4	1	3	1	3	0	3	1	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55872744A>T	ENST00000313503.1	+	1	226	c.226A>T	c.(226-228)Act>Tct	p.T76S		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					CAGTTACTCAACTGTCGTCAC	0.433										HNSCC(53;0.14)			T	55872744	A	T	55872744	3	4	364	1	0	0	0	0	1	0	0	0	11314	43	2	5	228	5	OR8H2	11	55872744	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11417	55872744	79133772	8618	32120											
OR8H2	390151	broad.mit.edu	37	chr11	55873189	55873189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctatgtgttcattctctttaCcatcctgaaaattaattcca	11	17	3	10	0	2	1	1	1	1	0	5	1	4	1	3	0	1	1	3	0	5	7	rs138370909		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:55873189C>T	ENST00000313503.1	+	1	671	c.671C>T	c.(670-672)aCc>aTc	p.T224I		NM_001005200.1	NP_001005200.1	Q8N162	OR8H2_HUMAN	olfactory receptor, family 8, subfamily H, member 2	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T224I(1)|p.T224M(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(38)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	61	Esophageal squamous(21;0.00693)					ATTCTCTTTACCATCCTGAAA	0.388										HNSCC(53;0.14)			T	55873189	C	T	55873189	3	4	364	1	0	0	0	0	1	0	0	0	11314	507	18	2	673	2	OR8H2	11	55873189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	445	55873189	79133327	8619	32121											
OR8J1	219477	broad.mit.edu	37	chr11	56128531	56128531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtaaccattcactggataCtgatgataagatggcttctg	13	12	9	7	0	2	3	1	2	1	1	2	4	2	4	1	2	2	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56128531C>A	ENST00000303039.3	+	1	841	c.809C>A	c.(808-810)aCt>aAt	p.T270N		NM_001005205.2	NP_001005205.2	Q8NGP2	OR8J1_HUMAN	olfactory receptor, family 8, subfamily J, member 1	270					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)					TCACTGGATACTGATGATAAG	0.423													A	56128531	C	A	56128531	3	1	364	1	0	0	0	0	1	0	0	0	11317	565	20	4	811	4	OR8J1	11	56128531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255342	56128531	78877985	8620	32122											
OR5M3	219482	broad.mit.edu	37	chr11	56237886	56237886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtgatgatgtagaccacaaGaaagatgatgaagaagagaa	19	6	13	3	0	0	9	0	4	0	5	0	10	0	9	1	1	0	1	1	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56237886G>A	ENST00000312240.2	-	1	128	c.88C>T	c.(88-90)Ctt>Ttt	p.L30F		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	30					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TAGACCACAAGAAAGATGATG	0.433													A	56237886	G	A	56237886	3	1	364	1	0	0	0	0	1	0	0	0	11251	942	33	2	837	2	OR5M3	11	56237886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109355	56237886	78768630	8621	32123											
OR5M8	219484	broad.mit.edu	37	chr11	56258291	56258291	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaggtgtcagaacaagccaGcttaatcagtggtgggtccg	10	9	14	8	1	2	1	2	0	0	1	3	1	3	1	2	3	3	2	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56258291G>A	ENST00000327216.2	-	1	580	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	186					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GAACAAGCCAGCTTAATCAGT	0.453													A	56258291	G	A	56258291	2	1	364	1	0	0	0	0	0	0	0	1	11252	962	34	2		2	OR5M8	11	56258291	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20405	56258291	78748225	8622	32124											
OR5AK2	390181	broad.mit.edu	37	chr11	56756428	56756428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagtcactgaattctatCttctgggatttggtgcccag	8	14	10	9	0	4	2	1	2	3	0	4	3	4	3	1	2	1	0	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56756428C>A	ENST00000326855.2	+	1	82	c.40C>A	c.(40-42)Ctt>Att	p.L14I		NM_001005323.1	NP_001005323.1	Q8NH90	O5AK2_HUMAN	olfactory receptor, family 5, subfamily AK, member 2	14					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(3)|endometrium(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	21						TGAATTCTATCTTCTGGGATT	0.403													A	56756428	C	A	56756428	3	1	364	1	0	0	0	0	1	0	0	0	11218	913	32	4	42	4	OR5AK2	11	56756428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	498137	56756428	78250088	8623	32125											
LRRC55	219527	broad.mit.edu	37	chr11	56949379	56949379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgataccacatgctcagaagCcccaccttcacagacgctgg	11	7	8	15	1	2	3	2	1	0	2	2	3	2	3	4	1	3	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56949379C>T	ENST00000497933.1	+	1	159	c.12C>T	c.(10-12)agC>agT	p.S4S		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						TGCTCAGAAGCCCCACCTTCA	0.597													T	56949379	C	T	56949379	2	4	364	1	0	0	0	0	0	0	0	1	9081	738	26	2		2	LRRC55	11	56949379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	192951	56949379	78057137	8624	32126											
LRRC55	219527	broad.mit.edu	37	chr11	56950053	56950053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctcttgagggcctacCggggctggtgaccctgcaga	6	7	17	11	1	1	3	0	2	1	1	1	4	1	4	3	6	2	3	3	6	1	2	rs34696547		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:56950053C>T	ENST00000497933.1	+	1	833	c.686C>T	c.(685-687)cCg>cTg	p.P229L		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	199	LRRCT.					integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GAGGGCCTACCGGGGCTGGTG	0.637													T	56950053	C	T	56950053	3	4	364	1	0	0	0	0	1	0	0	0	9081	652	23	1	688	1	LRRC55	11	56950053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	674	56950053	78056463	8625	32127											
APLNR	187	broad.mit.edu	37	chr11	57003773	57003773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccgcaggccctcgatgcGttccttgcggaagtggccag	5	9	13	14	4	0	0	0	0	0	0	3	2	2	1	4	3	2	2	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57003773G>A	ENST00000606794.1	-	1	902	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	236						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						CCCTCGATGCGTTCCTTGCGG	0.612													A	57003773	G	A	57003773	3	1	364	1	0	0	0	0	1	0	0	0	780	1145	40	1	440	1	APLNR	11	57003773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53720	57003773	78002743	8626	32128											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076180	57076180	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgccccactccacatccCcgtagcccctgagaacctcc	8	7	5	21	1	1	1	0	1	1	1	4	2	4	1	9	0	3	1	9	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57076180C>A	ENST00000532437.1	-	5	4316	c.4005G>T	c.(4003-4005)cgG>cgT	p.R1335R	TNKS1BP1_ENST00000358252.3_Silent_p.R1335R			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1335	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTCCACATCCCCGTAGCCCCT	0.617													A	57076180	C	A	57076180	2	1	364	1	0	0	0	0	0	0	0	1	16420	610	22	4		4	TNKS1BP1	11	57076180	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72407	57076180	77930336	8627	32129											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077271	57077271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagcttctgtcctgggCgtcaagggtcctggagctgc	6	10	13	12	1	2	0	1	0	1	0	5	1	5	1	3	3	3	2	3	3	2	1	rs148640580	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077271C>T	ENST00000532437.1	-	5	3225	c.2914G>A	c.(2914-2916)Gcc>Acc	p.A972T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A972T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	972	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTGTCCTGGGCGTCAAGGGTC	0.577													T	57077271	C	T	57077271	3	4	364	1	0	0	0	0	1	0	0	0	16420	768	27	1	2299	1	TNKS1BP1	11	57077271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091	57077271	77929245	8628	32130											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077411	57077411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaactcccagtcctgcTcatcggcatcctggctgctg	6	11	9	15	1	2	1	1	1	1	0	6	1	5	1	3	2	3	4	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077411T>C	ENST00000532437.1	-	5	3085	c.2774A>G	c.(2773-2775)gAg>gGg	p.E925G	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.E925G|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	925	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CCAGTCCTGCTCATCGGCATC	0.572													C	57077411	T	C	57077411	3	2	364	1	0	0	0	0	1	0	0	0	16420	1551	54	3	2439	3	TNKS1BP1	11	57077411	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	140	57077411	77929105	8629	32131											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57077836	57077836	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactccctggtgctcccttcCcctgctccttgcccatactt	3	13	5	20	0	0	0	0	0	0	0	4	0	4	0	6	1	4	2	6	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57077836C>A	ENST00000532437.1	-	5	2660	c.2349G>T	c.(2347-2349)ggG>ggT	p.G783G	TNKS1BP1_ENST00000358252.3_Silent_p.G783G|TNKS1BP1_ENST00000530920.1_5'UTR			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	783	Acidic.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding	p.G783G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				TGCTCCCTTCCCCTGCTCCTT	0.627													A	57077836	C	A	57077836	2	1	364	1	0	0	0	0	0	0	0	1	16420	610	22	4		4	TNKS1BP1	11	57077836	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425	57077836	77928680	8630	32132											
SSRP1	6749	broad.mit.edu	37	chr11	57094960	57094960	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttttcatagtccctcCtggcatcctcagccttgcga	5	14	8	14	1	2	0	2	0	0	0	5	1	5	0	4	2	2	2	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57094960C>A	ENST00000278412.2	-	15	2077	c.1811G>T	c.(1810-1812)aGg>aTg	p.R604M	RP11-872D17.4_ENST00000534162.1_RNA	NM_003146.2	NP_003137.1	Q08945	SSRP1_HUMAN	structure specific recognition protein 1	604					DNA repair|DNA replication|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|cytoplasm|nucleoplasm	DNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(4)	23						ATAGTCCCTCCTGGCATCCTC	0.502													A	57094960	C	A	57094960	3	1	364	1	0	0	0	0	1	0	0	0	15290	681	24	4	330	4	SSRP1	11	57094960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17124	57094960	77911556	8631	32133											
SLC43A3	29015	broad.mit.edu	37	chr11	57182424	57182424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgtgccatgtccccacCggccatgttggtcagcaagg	7	8	11	15	2	1	0	1	0	0	0	3	0	2	0	6	3	2	2	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57182424C>T	ENST00000395123.2	-	10	1229	c.925G>A	c.(925-927)Ggt>Agt	p.G309S	SLC43A3_ENST00000395124.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000529554.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000352187.1_Missense_Mutation_p.G309S|SLC43A3_ENST00000533524.1_Missense_Mutation_p.G322S	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	309					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATGTCCCCACCGGCCATGTTG	0.592													T	57182424	C	T	57182424	3	4	364	1	0	0	0	0	1	0	0	0	14728	652	23	1	570	1	SLC43A3	11	57182424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87464	57182424	77824092	8632	32134											
RTN4RL2	349667	broad.mit.edu	37	chr11	57235240	57235240	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgccacccagcactcagCgactcttcctgcagaacaac	10	6	6	19	1	2	1	1	0	1	1	3	2	3	1	4	0	6	2	4	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57235240C>T	ENST00000335099.3	+	2	507	c.190C>T	c.(190-192)Cga>Tga	p.R64*	RTN4RL2_ENST00000395120.2_Nonsense_Mutation_p.R64*|RTN4RL2_ENST00000533205.1_Nonsense_Mutation_p.R64*	NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	64					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CAGCACTCAGCGACTCTTCCT	0.622													T	57235240	C	T	57235240	4	4	364	1	0	0	0	0	0	1	0	0	13823	760	27	1	196	1	RTN4RL2	11	57235240	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52816	57235240	77771276	8633	32135											
SLC43A1	8501	broad.mit.edu	37	chr11	57258700	57258700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtacaggcaggtcacctgGcatctccgaggacagtgccc	8	7	12	14	1	2	0	1	0	1	0	3	2	2	1	3	4	2	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57258700G>A	ENST00000278426.3	-	11	1545	c.1190C>T	c.(1189-1191)gCc>gTc	p.A397V	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A397V	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	397					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGTCACCTGGCATCTCCGAG	0.552													A	57258700	G	A	57258700	3	1	364	1	0	0	0	0	1	0	0	0	14726	1203	42	2	509	2	SLC43A1	11	57258700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23460	57258700	77747816	8634	32136											
SLC43A1	8501	broad.mit.edu	37	chr11	57268692	57268692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtggcagggtggtggCgctgagcacgaaggaaccaa	10	4	16	11	2	0	1	0	1	0	0	0	3	0	2	3	5	2	3	3	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57268692C>T	ENST00000278426.3	-	3	620	c.265G>A	c.(265-267)Gcc>Acc	p.A89T	SLC43A1_ENST00000528450.1_Missense_Mutation_p.A89T	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	89					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						AGGGTGGTGGCGCTGAGCACG	0.652													T	57268692	C	T	57268692	3	4	364	1	0	0	0	0	1	0	0	0	14726	768	27	1	1466	1	SLC43A1	11	57268692	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9992	57268692	77737824	8635	32137											
TIMM10	26519	broad.mit.edu	37	chr11	57296339	57296339	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcgcccttggagagctCtgcttccttgtagtgaggag	7	11	13	10	1	1	3	0	1	1	2	3	5	2	4	2	2	2	3	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57296339C>A	ENST00000257245.4	-	3	276	c.124G>T	c.(124-126)Gag>Tag	p.E42*	TIMM10_ENST00000525158.1_Nonsense_Mutation_p.E42*|TIMM10_ENST00000525587.1_Nonsense_Mutation_p.E42*	NM_012456.2	NP_036588.1	P62072	TIM10_HUMAN	translocase of inner mitochondrial membrane 10 homolog (yeast)	42					protein import into mitochondrial inner membrane|sensory perception of sound|transmembrane transport	mitochondrial inner membrane presequence translocase complex|mitochondrial intermembrane space protein transporter complex	zinc ion binding			cervix(1)|large_intestine(2)	3						TTGGAGAGCTCTGCTTCCTTG	0.552													A	57296339	C	A	57296339	4	1	364	1	0	0	0	0	0	1	0	0	16005	922	32	4	152	4	TIMM10	11	57296339	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27647	57296339	77710177	8636	32138											
UBE2L6	9246	broad.mit.edu	37	chr11	57322034	57322034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatcatgggaggcttgaaCggatactccggcgggaagct	9	9	15	8	3	1	2	1	2	0	0	2	5	2	5	1	5	3	2	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57322034C>T	ENST00000287156.4	-	3	381	c.186G>A	c.(184-186)ccG>ccA	p.P62P	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	62					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						GAGGCTTGAACGGATACTCCG	0.537													T	57322034	C	T	57322034	2	4	364	1	0	0	0	0	0	0	0	1	16966	523	19	1		1	UBE2L6	11	57322034	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25695	57322034	77684482	8637	32139											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466563	57466563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgagagaagttgctgcGccagtcacccccactcccgg	9	5	12	15	3	1	1	1	0	0	1	2	4	2	2	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57466563G>A	ENST00000287169.3	+	11	3017	c.1655G>A	c.(1654-1656)cGc>cAc	p.R552H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R499H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	552						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						AAGTTGCTGCGCCAGTCACCC	0.617													A	57466563	G	A	57466563	3	1	364	1	0	0	0	0	1	0	0	0	17719	1087	38	1	1693	1	ZDHHC5	11	57466563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144529	57466563	77539953	8638	32140											
TMX2	51075	broad.mit.edu	37	chr11	57505440	57505440	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtaaagtggccaacacAattcttttcttccgcttgga	10	15	7	9	1	2	0	0	0	2	0	3	1	3	1	2	2	1	2	2	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57505440A>G	ENST00000278422.4	+	3	318	c.306A>G	c.(304-306)acA>acG	p.T102T	TMX2_ENST00000378312.4_Intron|TMX2-CTNND1_ENST00000528395.1_Intron	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	102					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TGGCCAACACAATTCTTTTCT	0.428													G	57505440	A	G	57505440	2	3	364	1	0	0	0	0	0	0	0	1	16367	117	5	3		3	TMX2	11	57505440	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38877	57505440	77501076	8639	32141											
CTNND1	1500	broad.mit.edu	37	chr11	57569568	57569568	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatatctcttttggacgtgaCcaggataacaagattgccat	13	12	8	8	1	1	2	0	1	1	1	2	4	1	4	2	2	2	0	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57569568C>T	ENST00000524630.1	+	7	1833	c.1320C>T	c.(1318-1320)gaC>gaT	p.D440D	CTNND1_ENST00000531014.1_Silent_p.D117D|CTNND1_ENST00000529986.1_Silent_p.D339D|CTNND1_ENST00000529873.1_Silent_p.D386D|CTNND1_ENST00000415361.2_Silent_p.D339D|CTNND1_ENST00000399039.4_Silent_p.D440D|CTNND1_ENST00000360682.6_Silent_p.D440D|CTNND1_ENST00000527467.1_Silent_p.D117D|CTNND1_ENST00000530748.1_Silent_p.D386D|CTNND1_ENST00000361391.6_Silent_p.D440D|CTNND1_ENST00000534579.1_Silent_p.D386D|CTNND1_ENST00000528621.1_Silent_p.D386D|CTNND1_ENST00000426142.2_Silent_p.D339D|CTNND1_ENST00000525902.1_Silent_p.D117D|CTNND1_ENST00000428599.2_Silent_p.D440D|CTNND1_ENST00000361796.4_Silent_p.D440D|CTNND1_ENST00000361332.4_Silent_p.D440D|CTNND1_ENST00000532844.1_Silent_p.D386D|CTNND1_ENST00000532787.1_Silent_p.D339D|CTNND1_ENST00000533667.1_Silent_p.D117D|CTNND1_ENST00000526938.1_Silent_p.D440D|CTNND1_ENST00000530094.1_Silent_p.D339D|CTNND1_ENST00000529919.1_Silent_p.D440D|CTNND1_ENST00000399050.4_Silent_p.D440D|CTNND1_ENST00000529526.1_Silent_p.D386D|CTNND1_ENST00000526357.1_Silent_p.D386D|CTNND1_ENST00000526772.1_Silent_p.D117D|CTNND1_ENST00000532245.1_Silent_p.D339D|CTNND1_ENST00000532463.1_Silent_p.D339D|CTNND1_ENST00000358694.6_Silent_p.D440D|CTNND1_ENST00000532649.1_Silent_p.D386D|CTNND1_ENST00000528232.1_Silent_p.D339D			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	440					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				TTGGACGTGACCAGGATAACA	0.473													T	57569568	C	T	57569568	2	4	364	1	0	0	0	0	0	0	0	1	4052	506	18	2		2	CTNND1	11	57569568	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64128	57569568	77436948	8640	32142											
CTNND1	1500	broad.mit.edu	37	chr11	57577605	57577605	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcagaaaaagaagttcgAgcagcagcacttgtattaca	15	8	9	9	2	1	2	1	0	0	2	2	3	1	2	0	0	4	6	0	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57577605A>T	ENST00000524630.1	+	15	2955	c.2442A>T	c.(2440-2442)cgA>cgT	p.R814R	CTNND1_ENST00000531014.1_Silent_p.R491R|CTNND1_ENST00000529986.1_Silent_p.R713R|CTNND1_ENST00000529873.1_Silent_p.R760R|CTNND1_ENST00000415361.2_Silent_p.R719R|CTNND1_ENST00000399039.4_Silent_p.R820R|CTNND1_ENST00000360682.6_Silent_p.R820R|CTNND1_ENST00000527467.1_Silent_p.R497R|CTNND1_ENST00000530748.1_Silent_p.R766R|CTNND1_ENST00000361391.6_Silent_p.R814R|CTNND1_ENST00000534579.1_Silent_p.R760R|CTNND1_ENST00000528621.1_Silent_p.R760R|CTNND1_ENST00000426142.2_Silent_p.R713R|CTNND1_ENST00000525902.1_Silent_p.R497R|CTNND1_ENST00000428599.2_Silent_p.R814R|CTNND1_ENST00000361796.4_Silent_p.R814R|CTNND1_ENST00000361332.4_Silent_p.R814R|CTNND1_ENST00000532844.1_Silent_p.R766R|CTNND1_ENST00000532787.1_Silent_p.R713R|CTNND1_ENST00000533667.1_Silent_p.R491R|CTNND1_ENST00000526938.1_Silent_p.R820R|CTNND1_ENST00000530094.1_Silent_p.R713R|CTNND1_ENST00000529919.1_Silent_p.R820R|CTNND1_ENST00000399050.4_Silent_p.R820R|CTNND1_ENST00000529526.1_Silent_p.R760R|CTNND1_ENST00000526357.1_Silent_p.R760R|CTNND1_ENST00000526772.1_Silent_p.R491R|CTNND1_ENST00000532245.1_Silent_p.R713R|CTNND1_ENST00000532463.1_Silent_p.R713R|CTNND1_ENST00000358694.6_Silent_p.R814R|CTNND1_ENST00000532649.1_Silent_p.R760R|CTNND1_ENST00000528232.1_Silent_p.R719R			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	820					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				AAGAAGTTCGAGCAGCAGCAC	0.398													T	57577605	A	T	57577605	2	4	364	1	0	0	0	0	0	0	0	1	4052	291	11	5		5	CTNND1	11	57577605	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8037	57577605	77428911	8641	32143											
OR9Q2	219957	broad.mit.edu	37	chr11	57958284	57958284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcctcttcaccttctttGcctccatcgactgctacctt	4	17	3	17	1	4	0	1	0	3	0	7	1	6	0	5	0	3	1	5	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958284G>A	ENST00000311591.3	+	1	379	c.322G>A	c.(322-324)Gcc>Acc	p.A108T		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	108					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CACCTTCTTTGCCTCCATCGA	0.587													A	57958284	G	A	57958284	3	1	364	1	0	0	0	0	1	0	0	0	11332	1319	46	2	324	2	OR9Q2	11	57958284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	380679	57958284	77048232	8642	32144											
OR9Q2	219957	broad.mit.edu	37	chr11	57958410	57958410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctagtcactggggcttacGttgctggttttttcagtgcc	4	15	12	10	1	2	0	2	0	0	0	2	0	2	0	2	3	3	4	2	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57958410G>A	ENST00000311591.3	+	1	505	c.448G>A	c.(448-450)Gtt>Att	p.V150I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	150					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				TGGGGCTTACGTTGCTGGTTT	0.527													A	57958410	G	A	57958410	3	1	364	1	0	0	0	0	1	0	0	0	11332	1145	40	1	450	1	OR9Q2	11	57958410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126	57958410	77048106	8643	32145											
OR10Q1	219960	broad.mit.edu	37	chr11	57995808	57995808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacatcgcagaggaagtgGttgatttcctggtggtggcc	7	10	16	8	1	0	2	0	1	0	1	2	3	1	3	2	6	0	3	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57995808G>A	ENST00000316770.2	-	1	582	c.540C>T	c.(538-540)aaC>aaT	p.N180N		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	180					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				AGAGGAAGTGGTTGATTTCCT	0.637													A	57995808	G	A	57995808	2	1	364	1	0	0	0	0	0	0	0	1	10992	1252	44	2		2	OR10Q1	11	57995808	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37398	57995808	77010708	8644	32146											
OR10Q1	219960	broad.mit.edu	37	chr11	57996253	57996253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggaggaagagaaggAagagaagaacctggaattca	19	3	16	3	0	1	4	1	0	0	4	1	11	1	9	1	5	1	0	1	5	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996253A>G	ENST00000316770.2	-	1	137	c.95T>C	c.(94-96)tTc>tCc	p.F32S		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GAAGAGAAGGAAGAGAAGAAC	0.522													G	57996253	A	G	57996253	3	3	364	1	0	0	0	0	1	0	0	0	10992	246	9	3	868	3	OR10Q1	11	57996253	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	445	57996253	77010263	8645	32147											
OR10Q1	219960	broad.mit.edu	37	chr11	57996345	57996345	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaagtttccccacaggCatgtcttatgcaaaagaata	16	9	7	9	0	1	2	0	0	1	2	2	2	2	2	2	1	1	3	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:57996345C>T	ENST00000316770.2	-	1	45	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TCCCCACAGGCATGTCTTATG	0.478													T	57996345	C	T	57996345	1	4	364	1	0	0	0	0	0	0	0	0	10992	710	25	2		2	OR10Q1	11	57996345	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92	57996345	77010171	8646	32148											
OR10W1	81341	broad.mit.edu	37	chr11	58035078	58035078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggcacagcccaggaGagtgatggtcttctctgact	7	10	14	10	0	2	3	0	2	2	1	3	4	2	3	1	4	1	1	1	4	0	1	rs142581541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58035078G>T	ENST00000395079.2	-	1	654	c.253C>A	c.(253-255)Ctc>Atc	p.L85I		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	85					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				CAGCCCAGGAGAGTGATGGTC	0.537													T	58035078	G	T	58035078	3	4	364	1	0	0	0	0	1	0	0	0	10997	942	33	4	668	4	OR10W1	11	58035078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38733	58035078	76971438	8647	32149											
OR5B17	219965	broad.mit.edu	37	chr11	58126179	58126179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagggggttacacactgctgCgtagcggtcataggccattg	8	10	14	9	2	1	0	1	0	0	0	1	0	1	0	1	4	4	3	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58126179C>T	ENST00000357377.3	-	1	363	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001005489.1	NP_001005489.1	Q8NGF7	OR5BH_HUMAN	olfactory receptor, family 5, subfamily B, member 17	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A122T(1)		NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACACTGCTGCGTAGCGGTCA	0.478													T	58126179	C	T	58126179	3	4	364	1	0	0	0	0	1	0	0	0	11225	768	27	1	582	1	OR5B17	11	58126179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91101	58126179	76880337	8648	32150											
OR5B3	441608	broad.mit.edu	37	chr11	58170821	58170821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataaagaggggaacctgcAgttctgagtcattggttagt	11	13	12	5	0	2	2	1	1	1	1	2	3	2	3	1	3	2	3	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58170821A>G	ENST00000309403.2	-	1	61	c.62T>C	c.(61-63)cTg>cCg	p.L21P		NM_001005469.1	NP_001005469.1	Q8NH48	OR5B3_HUMAN	olfactory receptor, family 5, subfamily B, member 3	21					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(1)	34	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GGGAACCTGCAGTTCTGAGTC	0.418													G	58170821	A	G	58170821	3	3	364	1	0	0	0	0	1	0	0	0	11228	188	7	3	884	3	OR5B3	11	58170821	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44642	58170821	76835695	8649	32151											
OR5B2	390190	broad.mit.edu	37	chr11	58190027	58190027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagaggcacaggtggaCaatgctttttggtgtccctt	9	12	13	7	0	0	1	0	1	0	1	1	3	1	2	1	4	1	2	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58190027C>T	ENST00000302581.2	-	1	759	c.708G>A	c.(706-708)ttG>ttA	p.L236L		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				CACAGGTGGACAATGCTTTTT	0.428													T	58190027	C	T	58190027	2	4	364	1	0	0	0	0	0	0	0	1	11226	477	17	2		2	OR5B2	11	58190027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19206	58190027	76816489	8650	32152											
LPXN	9404	broad.mit.edu	37	chr11	58331658	58331658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagctcctggatattggtaGtatacacgagctgcgcctaa	10	11	11	9	2	0	1	0	1	0	0	1	3	1	2	2	2	4	4	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58331658G>A	ENST00000528954.1	-	3	322	c.203C>T	c.(202-204)aCt>aTt	p.T68I	LPXN_ENST00000395074.2_Missense_Mutation_p.T63I|LPXN_ENST00000528489.1_Intron	NM_001143995.1	NP_001137467.1	O60711	LPXN_HUMAN	leupaxin	63					cell adhesion|protein complex assembly|signal transduction	cytoplasm	zinc ion binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				GATATTGGTAGTATACACGAG	0.303													A	58331658	G	A	58331658	3	1	364	1	0	0	0	0	1	0	0	0	8999	1029	36	2	1000	2	LPXN	11	58331658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141631	58331658	76674858	8651	32153											
ZFP91	80829	broad.mit.edu	37	chr11	58379786	58379786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagatgacaaaagtccacGtttacccaaaaggaggtgag	18	6	10	7	1	0	3	0	2	0	1	1	4	1	4	2	2	1	1	2	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58379786G>A	ENST00000316059.6	+	7	1064	c.893G>A	c.(892-894)cGt>cAt	p.R298H	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R298H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	298					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				AAAAGTCCACGTTTACCCAAA	0.398													A	58379786	G	A	58379786	3	1	364	1	0	0	0	0	1	0	0	0	17756	1145	40	1	919	1	ZFP91	11	58379786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48128	58379786	76626730	8652	32154											
ZFP91	80829	broad.mit.edu	37	chr11	58380261	58380261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccaatccagtatgtccGttgtgagatggaaggatgtg	9	11	13	8	1	0	1	0	1	0	1	3	4	3	3	4	2	0	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58380261G>A	ENST00000316059.6	+	8	1106	c.935G>A	c.(934-936)cGt>cAt	p.R312H	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R312H	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	312					activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CAGTATGTCCGTTGTGAGATG	0.403													A	58380261	G	A	58380261	3	1	364	1	0	0	0	0	1	0	0	0	17756	1145	40	1	965	1	ZFP91	11	58380261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	475	58380261	76626255	8653	32155											
CNTF	1270	broad.mit.edu	37	chr11	58391922	58391922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtccatccatgaccttcGtttcatttcttctcatcaga	9	15	5	12	1	4	2	3	1	2	1	8	2	6	2	3	1	0	1	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58391922G>A	ENST00000361987.4	+	2	610	c.530G>A	c.(529-531)cGt>cAt	p.R177H	ZFP91-CNTF_ENST00000389919.4_3'UTR	NM_000614.3	NP_000605.1	P26441	CNTF_HUMAN	ciliary neurotrophic factor	177					ciliary neurotrophic factor-mediated signaling pathway|growth|negative regulation of neuron apoptosis|positive regulation of tyrosine phosphorylation of Stat3 protein		ciliary neurotrophic factor receptor binding|growth factor activity|interleukin-6 receptor binding			NS(1)|breast(1)|kidney(2)|large_intestine(4)|lung(1)|ovary(1)	10		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				CATGACCTTCGTTTCATTTCT	0.463													A	58391922	G	A	58391922	3	1	364	1	0	0	0	0	1	0	0	0	3668	1145	40	1	536	1	CNTF	11	58391922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11661	58391922	76614594	8654	32156											
GLYAT	10249	broad.mit.edu	37	chr11	58477642	58477642	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttaaacatctcttggttgCtatggagggtccaagaagaa	12	12	11	6	0	1	2	0	0	1	2	3	3	2	3	1	3	2	3	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58477642C>T	ENST00000344743.3	-	6	630		c.e6-1		GLYAT_ENST00000529732.1_Splice_Site|GLYAT_ENST00000278400.3_3'UTR	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTCTTGGTTGCTATGGAGGGT	0.393													T	58477642	C	T	58477642	5	4	364	1	0	0	0	0	0	0	1	0	6535	811	28	2	406	2	GLYAT	11	58477642	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85720	58477642	76528874	8655	32157											
GLYATL1	92292	broad.mit.edu	37	chr11	58723154	58723154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtaaatgacaactggaagcGagggaagaatgagaggagcc	16	4	16	5	1	0	3	0	2	0	2	0	8	0	6	1	4	3	1	1	4	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58723154G>A	ENST00000300079.5	+	7	706	c.656G>A	c.(655-657)cGa>cAa	p.R219Q	GLYATL1_ENST00000317391.4_Missense_Mutation_p.R188Q|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	188						mitochondrion	glycine N-acyltransferase activity	p.R219Q(1)|p.R188Q(1)		NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	AACTGGAAGCGAGGGAAGAAT	0.498													A	58723154	G	A	58723154	3	1	364	1	0	0	0	0	1	0	0	0	6536	1058	37	1	682	1	GLYATL1	11	58723154	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245512	58723154	76283362	8656	32158											
FAM111A	63901	broad.mit.edu	37	chr11	58920195	58920195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtagtgaaacttcttgtaCgtctcagtgactcagttggg	10	13	11	7	1	3	2	2	2	2	0	4	2	3	2	0	1	2	3	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58920195C>T	ENST00000528737.1	+	5	3872	c.1054C>T	c.(1054-1056)Cgt>Tgt	p.R352C	FAM111A_ENST00000533703.1_Missense_Mutation_p.R352C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R352C|FAM111A_ENST00000531147.1_Missense_Mutation_p.R352C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R352C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	352					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				ACTTCTTGTACGTCTCAGTGA	0.368													T	58920195	C	T	58920195	3	4	364	1	0	0	0	0	1	0	0	0	5444	536	19	1	1060	1	FAM111A	11	58920195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197041	58920195	76086321	8657	32159											
DTX4	23220	broad.mit.edu	37	chr11	58962747	58962747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaggcacccaacctccaGggaagatggagtaccacctc	13	4	10	14	0	0	2	0	0	0	2	2	4	1	4	5	3	2	2	5	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58962747G>T	ENST00000227451.3	+	7	1545	c.1441G>T	c.(1441-1443)Ggg>Tgg	p.G481W	DTX4_ENST00000532982.1_Missense_Mutation_p.G375W	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	481					Notch signaling pathway	cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				CCAACCTCCAGGGAAGATGGA	0.572													T	58962747	G	T	58962747	3	4	364	1	0	0	0	0	1	0	0	0	4836	1000	35	4	1467	4	DTX4	11	58962747	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42552	58962747	76043769	8658	32160											
MPEG1	219972	broad.mit.edu	37	chr11	58979412	58979412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttgatgaagaaatgcagCggcaggccagagcggtcgat	11	6	17	7	3	0	4	0	2	0	2	1	5	0	4	1	4	3	3	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:58979412C>T	ENST00000361050.3	-	1	1012	c.927G>A	c.(925-927)ccG>ccA	p.P309P		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	309	MACPF.					integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				AGAAATGCAGCGGCAGGCCAG	0.557													T	58979412	C	T	58979412	2	4	364	1	0	0	0	0	0	0	0	1	9799	755	27	1		1	MPEG1	11	58979412	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16665	58979412	76027104	8659	32161											
OR5A2	219981	broad.mit.edu	37	chr11	59190336	59190336	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtagagccccagaaataAcatgaaaaggaaaatcttca	19	6	9	7	0	2	3	1	1	1	2	2	5	2	4	2	2	2	1	2	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59190336A>C	ENST00000302040.4	-	1	113	c.91T>G	c.(91-93)Tta>Gta	p.L31V		NM_001001954.1	NP_001001954.1	Q8NGI9	OR5A2_HUMAN	olfactory receptor, family 5, subfamily A, member 2	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|liver(1)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	21						CCCAGAAATAACATGAAAAGG	0.453													C	59190336	A	C	59190336	3	2	364	1	0	0	0	0	1	0	0	0	11216	40	2	5	885	5	OR5A2	11	59190336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	210924	59190336	75816180	8660	32162											
OR5A1	219982	broad.mit.edu	37	chr11	59211585	59211585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaggaagaaagtgttttCttaggtcatgcgtagaaact	14	11	12	4	1	2	2	1	0	1	2	2	4	2	4	0	3	2	2	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59211585C>A	ENST00000302030.2	+	1	969	c.944C>A	c.(943-945)tCt>tAt	p.S315Y		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AAAGTGTTTTCTTAGGTCATG	0.443													A	59211585	C	A	59211585	3	1	364	1	0	0	0	0	1	0	0	0	11215	913	32	4	946	4	OR5A1	11	59211585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21249	59211585	75794931	8661	32163											
OR4D10	390197	broad.mit.edu	37	chr11	59245181	59245181	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaagaaagaccatctcCttcaatcattgcttcactca	13	12	4	12	0	6	3	4	1	2	2	7	3	6	3	2	0	1	1	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59245181C>A	ENST00000530162.1	+	1	336	c.279C>A	c.(277-279)tcC>tcA	p.S93S		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AGACCATCTCCTTCAATCATT	0.423													A	59245181	C	A	59245181	2	1	364	1	0	0	0	0	0	0	0	1	11130	668	24	4		4	OR4D10	11	59245181	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33596	59245181	75761335	8662	32164											
OR4D11	219986	broad.mit.edu	37	chr11	59271671	59271671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacaatggcctggtcactaCcctgtggtttatcttcctgc	7	13	8	13	0	2	0	1	0	1	0	3	0	3	0	3	3	3	1	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59271671C>T	ENST00000313253.1	+	1	623	c.623C>T	c.(622-624)aCc>aTc	p.T208I		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						CTGGTCACTACCCTGTGGTTT	0.512													T	59271671	C	T	59271671	3	4	364	1	0	0	0	0	1	0	0	0	11131	507	18	2	625	2	OR4D11	11	59271671	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26490	59271671	75734845	8663	32165											
OSBP	5007	broad.mit.edu	37	chr11	59344074	59344074	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaatgtccgggcatgagctCcagtcctgtttttctttaca	9	14	8	10	1	1	1	0	1	1	0	4	1	4	1	3	1	2	3	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59344074C>T	ENST00000263847.1	-	14	2879	c.2400G>A	c.(2398-2400)tgG>tgA	p.W800*		NM_002556.2	NP_002547.1	P22059	OSBP1_HUMAN	oxysterol binding protein	800					lipid transport	Golgi membrane	oxysterol binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		all_epithelial(135;0.000236)		BRCA - Breast invasive adenocarcinoma(625;0.00607)|LUSC - Lung squamous cell carcinoma(625;0.207)		GGCATGAGCTCCAGTCCTGTT	0.453													T	59344074	C	T	59344074	4	4	364	1	0	0	0	0	0	1	0	0	11349	856	30	2	27	2	OSBP	11	59344074	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72403	59344074	75662442	8664	32166											
PATL1	219988	broad.mit.edu	37	chr11	59420449	59420449	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcttgatgactgctccgGtgacttcctctatctcccgc	5	14	8	14	2	3	4	0	4	3	0	6	4	5	4	3	1	1	1	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59420449G>A	ENST00000300146.9	-	10	1248	c.1164C>T	c.(1162-1164)caC>caT	p.H388H		NM_152716.2	NP_689929.2	Q86TB9	PATL1_HUMAN	protein associated with topoisomerase II homolog 1 (yeast)	388	Region N; interaction with decapping machinery.				cytoplasmic mRNA processing body assembly|deadenylation-dependent decapping of nuclear-transcribed mRNA	cytoplasmic mRNA processing body	protein binding|RNA binding			central_nervous_system(1)|endometrium(2)|lung(5)|ovary(1)|prostate(2)	11						GACTGCTCCGGTGACTTCCTC	0.438													A	59420449	G	A	59420449	2	1	364	1	0	0	0	0	0	0	0	1	11551	1252	44	2		2	PATL1	11	59420449	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76375	59420449	75586067	8665	32167											
OR10V1	390201	broad.mit.edu	37	chr11	59480455	59480455	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaaactatagatcaaGgggtttaaaatgggagtgat	14	12	10	5	0	2	2	2	1	0	1	3	3	3	3	1	3	1	1	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59480455G>T	ENST00000307552.2	-	1	882	c.864C>A	c.(862-864)ccC>ccA	p.P288P		NM_001005324.1	NP_001005324.1	Q8NGI7	O10V1_HUMAN	olfactory receptor, family 10, subfamily V, member 1	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|liver(1)|lung(10)|skin(1)	16						TATAGATCAAGGGGTTTAAAA	0.433													T	59480455	G	T	59480455	2	4	364	1	0	0	0	0	0	0	0	1	10996	987	35	4		4	OR10V1	11	59480455	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60006	59480455	75526061	8666	32168											
GIF	2694	broad.mit.edu	37	chr11	59604792	59604792	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttgcagttccattcCtttttagatggctcaggtgt	5	18	9	9	0	3	1	1	0	2	1	5	1	5	1	2	2	1	3	2	2	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59604792C>T	ENST00000541311.1	-	6	885	c.651G>A	c.(649-651)aaG>aaA	p.K217K	GIF_ENST00000257248.2_Silent_p.K242K			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	242					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						AGTTCCATTCCTTTTTAGATG	0.448													T	59604792	C	T	59604792	2	4	364	1	0	0	0	0	0	0	0	1	6432	680	24	2		2	GIF	11	59604792	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124337	59604792	75401724	8667	32169											
MS4A3	932	broad.mit.edu	37	chr11	59828745	59828745	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtctaccagcccataGatggatcaccagattatcag	11	11	7	12	0	4	2	2	0	2	2	4	3	4	3	3	1	2	0	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59828745G>T	ENST00000278865.3	+	2	185	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	MS4A3_ENST00000526199.1_3'UTR|MS4A3_ENST00000534744.1_Missense_Mutation_p.D38Y|MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Missense_Mutation_p.D38Y	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	38				D -> N (in Ref. 1; AAA62319).		endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CCAGCCCATAGATGGATCACC	0.453													T	59828745	G	T	59828745	3	4	364	1	0	0	0	0	1	0	0	0	9937	942	33	4	114	4	MS4A3	11	59828745	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	223953	59828745	75177771	8668	32170											
MS4A6A	64231	broad.mit.edu	37	chr11	59940569	59940569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagctaggcagaattccaGcagagtgcaaatcagcatca	15	6	9	11	0	2	2	2	0	0	2	3	2	3	2	1	1	4	5	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:59940569G>A	ENST00000420732.2	-	6	555	c.479C>T	c.(478-480)gCt>gTt	p.A160V	MS4A6A_ENST00000529054.1_Silent_p.L223L|MS4A6A_ENST00000412309.2_Silent_p.L223L|MS4A6A_ENST00000426738.2_Silent_p.L150L|MS4A6A_ENST00000533023.1_Missense_Mutation_p.A96V|MS4A6A_ENST00000528851.1_Silent_p.L195L|MS4A6A_ENST00000530839.1_Silent_p.L195L|MS4A6A_ENST00000323961.3_Silent_p.L195L			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	0						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGAATTCCAGCAGAGTGCAA	0.498													A	59940569	G	A	59940569	3	1	364	1	0	0	0	0	1	0	0	0	9940	971	34	2	198	2	MS4A6A	11	59940569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111824	59940569	75065947	8669	32171											
MS4A4A	51338	broad.mit.edu	37	chr11	60075626	60075626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcacatggcagaaacagcatCtcccacaccacttaatgagg	14	7	7	13	0	2	2	1	1	1	1	3	2	2	2	2	2	2	2	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60075626C>T	ENST00000355131.3	+	8	861	c.638C>T	c.(637-639)tCt>tTt	p.S213F	MS4A4A_ENST00000337908.4_Missense_Mutation_p.S232F|MS4A4A_ENST00000395016.3_Missense_Mutation_p.S213F|MS4A4A_ENST00000532114.1_Missense_Mutation_p.S179F	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	232						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						GAAACAGCATCTCCCACACCA	0.448													T	60075626	C	T	60075626	3	4	364	1	0	0	0	0	1	0	0	0	9938	913	32	2	721	2	MS4A4A	11	60075626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135057	60075626	74930890	8670	32172											
MS4A5	64232	broad.mit.edu	37	chr11	60198381	60198381	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttctttcaggatatccatTctggggctctgttttggtga	6	18	10	7	0	4	1	1	1	3	0	5	2	5	2	1	4	0	2	1	4	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60198381T>C	ENST00000300190.2	+	2	352	c.266T>C	c.(265-267)tTc>tCc	p.F89S	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	89						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						GGATATCCATTCTGGGGCTCT	0.368													C	60198381	T	C	60198381	3	2	364	1	0	0	0	0	1	0	0	0	9939	1783	62	3	272	3	MS4A5	11	60198381	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	122755	60198381	74808135	8671	32173											
MS4A1	931	broad.mit.edu	37	chr11	60230540	60230540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttctgatgatcccagcaggGatctatgcacccatctgtgt	8	12	9	12	0	3	2	0	2	3	0	4	3	4	3	2	1	2	2	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60230540G>T	ENST00000534668.1	+	3	514	c.225G>T	c.(223-225)ggG>ggT	p.G75G	MS4A1_ENST00000345732.4_Silent_p.G75G|MS4A1_ENST00000532073.1_Silent_p.G75G|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000389939.2_Silent_p.G75G|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	75	Epitope 1.				B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	TCCCAGCAGGGATCTATGCAC	0.517													T	60230540	G	T	60230540	2	4	364	1	0	0	0	0	0	0	0	1	9930	1161	41	4		4	MS4A1	11	60230540	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32159	60230540	74775976	8672	32174											
MS4A1	931	broad.mit.edu	37	chr11	60234484	60234484	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggaacttgtaatagCtggcatcgttgagaatgaat	12	12	10	7	1	0	2	0	2	0	1	2	4	1	3	1	2	2	4	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60234484C>A	ENST00000534668.1	+	6	915	c.626C>A	c.(625-627)gCt>gAt	p.A209D	MS4A1_ENST00000345732.4_Missense_Mutation_p.A209D|MS4A1_ENST00000532073.1_Missense_Mutation_p.A196D|MS4A1_ENST00000389939.2_Missense_Mutation_p.A209D|MS4A1_ENST00000528313.1_Missense_Mutation_p.A42D	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	209					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTTGTAATAGCTGGCATCGTT	0.423													A	60234484	C	A	60234484	3	1	364	1	0	0	0	0	1	0	0	0	9930	797	28	4	644	4	MS4A1	11	60234484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3944	60234484	74772032	8673	32175											
MS4A10	341116	broad.mit.edu	37	chr11	60567302	60567302	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctccatttcatgcaggCtcagagaagttaagcaagtt	13	12	8	8	0	3	1	2	0	1	1	4	2	3	1	1	1	2	5	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60567302C>T	ENST00000308287.1	+	8	820	c.724C>T	c.(724-726)Ctc>Ttc	p.L242F		NM_206893.3	NP_996776.2	Q96PG2	M4A10_HUMAN	membrane-spanning 4-domains, subfamily A, member 10	242						integral to membrane	receptor activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|skin(2)	21						ttcatgcaggctcagagaagt	0.463													T	60567302	C	T	60567302	5	4	364	1	0	0	0	0	0	0	1	0	9931	811	28	2	750	2	MS4A10	11	60567302	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	332818	60567302	74439214	8674	32176											
ZP1	22917	broad.mit.edu	37	chr11	60638464	60638464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcagagatggctacttcgtCctcgtagtgtcccaagaaat	10	12	9	10	2	1	2	1	0	0	2	5	3	3	2	2	1	1	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60638464C>T	ENST00000278853.5	+	5	861	c.861C>T	c.(859-861)gtC>gtT	p.V287V		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	287	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCTACTTCGTCCTCGTAGTGT	0.582													T	60638464	C	T	60638464	2	4	364	1	0	0	0	0	0	0	0	1	18314	842	30	2		2	ZP1	11	60638464	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71162	60638464	74368052	8675	32177											
ZP1	22917	broad.mit.edu	37	chr11	60641122	60641122	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatgccctttcaagggCgacagctacagaacccaaat	13	7	8	13	1	2	2	2	0	0	2	2	3	2	2	2	1	4	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60641122C>T	ENST00000278853.5	+	9	1446	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G		NM_207341.2	NP_997224.2	P60852	ZP1_HUMAN	zona pellucida glycoprotein 1 (sperm receptor)	482	ZP.				single fertilization	integral to membrane|plasma membrane|proteinaceous extracellular matrix				breast(3)|endometrium(2)|large_intestine(8)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						CTTTCAAGGGCGACAGCTACA	0.582													T	60641122	C	T	60641122	2	4	364	1	0	0	0	0	0	0	0	1	18314	755	27	1		1	ZP1	11	60641122	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2658	60641122	74365394	8676	32178											
TMEM109	79073	broad.mit.edu	37	chr11	60689458	60689458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgcctgacccttccaccCgggccctgctactcctggcc	3	8	10	20	2	0	1	0	1	0	0	2	1	2	1	7	3	3	1	7	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60689458C>T	ENST00000227525.3	+	4	956	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.R185W	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	185						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane		p.R185W(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						CCCTTCCACCCGGGCCCTGCT	0.672													T	60689458	C	T	60689458	3	4	364	1	0	0	0	0	1	0	0	0	16125	643	23	1	563	1	TMEM109	11	60689458	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48336	60689458	74317058	8677	32179											
TMEM132A	54972	broad.mit.edu	37	chr11	60701095	60701095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgagtggacttctggtggCgccggctccgcgcctcgctg	2	9	16	14	6	1	0	0	0	1	0	3	2	2	1	3	4	1	2	3	4	0	1	rs151003082		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60701095C>T	ENST00000005286.4	+	8	1594	c.1441C>T	c.(1441-1443)Cgc>Tgc	p.R481C	TMEM132A_ENST00000453848.2_Missense_Mutation_p.R480C	NM_017870.3|NM_178031.2	NP_060340.2|NP_821174.1	Q24JP5	T132A_HUMAN	transmembrane protein 132A	480						endoplasmic reticulum membrane|Golgi membrane|integral to membrane		p.R481C(2)		breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|prostate(1)|skin(3)	32						CTTCTGGTGGCGCCGGCTCCG	0.711													T	60701095	C	T	60701095	3	4	364	1	0	0	0	0	1	0	0	0	16145	768	27	1	1471	1	TMEM132A	11	60701095	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11637	60701095	74305421	8678	32180											
SLC15A3	51296	broad.mit.edu	37	chr11	60708695	60708695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtaaagggtcgatcaagCggtccttcagagggaccaga	12	6	14	9	2	2	2	2	0	0	2	4	4	3	3	2	3	1	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60708695C>T	ENST00000227880.3	-	5	1408	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3	392					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						GTCGATCAAGCGGTCCTTCAG	0.577													T	60708695	C	T	60708695	3	4	364	1	0	0	0	0	1	0	0	0	14494	768	27	1	586	1	SLC15A3	11	60708695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7600	60708695	74297821	8679	32181											
CD5	921	broad.mit.edu	37	chr11	60889372	60889372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgcaagaaggtgtttgtCacatgtgagttggccacagc	10	11	12	8	0	1	2	1	1	0	1	1	2	1	2	1	2	3	3	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:60889372C>T	ENST00000347785.3	+	6	1261	c.1095C>T	c.(1093-1095)gtC>gtT	p.V365V		NM_014207.3	NP_055022.2	P06127	CD5_HUMAN	CD5 molecule	365	SRCR 3.				cell proliferation|cell recognition	integral to plasma membrane	scavenger receptor activity			central_nervous_system(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_lung(304;5.94e-05)|Lung NSC(402;7.26e-05)		BRCA - Breast invasive adenocarcinoma(625;0.000946)|Lung(977;0.0086)|LUSC - Lung squamous cell carcinoma(625;0.0528)		AGGTGTTTGTCACATGTGAGT	0.552													T	60889372	C	T	60889372	2	4	364	1	0	0	0	0	0	0	0	1	3051	813	29	2		2	CD5	11	60889372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180677	60889372	74117144	8680	32182											
VWCE	220001	broad.mit.edu	37	chr11	61026580	61026580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgggcttgtaggtaaaGtctgtgttttcatcaagttc	7	15	11	8	1	3	0	2	0	1	0	4	0	3	0	1	2	1	5	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61026580G>A	ENST00000335613.5	-	20	2821	c.2435C>T	c.(2434-2436)aCt>aTt	p.T812I	VWCE_ENST00000535710.1_Missense_Mutation_p.T277I	NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	812						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						TGTAGGTAAAGTCTGTGTTTT	0.582													A	61026580	G	A	61026580	3	1	364	1	0	0	0	0	1	0	0	0	17347	1029	36	2	436	2	VWCE	11	61026580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137208	61026580	73979936	8681	32183											
DDB1	1642	broad.mit.edu	37	chr11	61070156	61070156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggcaaaagacattgaCaaactcgcccaggtggaaaa	15	5	11	10	2	0	2	0	1	0	1	1	3	0	3	2	3	1	1	2	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61070156C>T	ENST00000301764.7	-	24	3407	c.3010G>A	c.(3010-3012)Gtc>Atc	p.V1004I	DDB1_ENST00000450997.2_Missense_Mutation_p.V315I|DDB1_ENST00000538470.1_Missense_Mutation_p.V51I|DDB1_ENST00000451943.2_5'UTR	NM_001923.4	NP_001914.3	Q16531	DDB1_HUMAN	damage-specific DNA binding protein 1, 127kDa	1004	Interaction with CDT1 and CUL4A.				cell cycle checkpoint|interspecies interaction between organisms|nucleotide-excision repair, DNA damage removal|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytoplasm|nucleoplasm	damaged DNA binding|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGACATTGACAAACTCGCCC	0.562								Nucleotide excision repair (NER)					T	61070156	C	T	61070156	3	4	364	1	0	0	0	0	1	0	0	0	4357	478	17	2	428	2	DDB1	11	61070156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43576	61070156	73936360	8682	32184											
DAK	26007	broad.mit.edu	37	chr11	61109300	61109300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtttctcataggtaccCtgggggtgagcttatcctcc	5	14	10	12	0	1	1	1	1	1	0	4	1	3	1	4	3	2	3	4	3	3	5	rs142253953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61109300C>A	ENST00000394900.3	+	7	800	c.571C>A	c.(571-573)Ctg>Atg	p.L191M		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	191	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						CATAGGTACCCTGGGGGTGAG	0.592													A	61109300	C	A	61109300	3	1	364	1	0	0	0	0	1	0	0	0	4262	680	24	4	593	4	DAK	11	61109300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39144	61109300	73897216	8683	32185											
TMEM138	51524	broad.mit.edu	37	chr11	61135448	61135448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacagatggacttcaaatGctgtttgtattccagagact	11	13	10	7	0	1	2	1	0	0	2	2	5	2	4	1	2	1	3	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61135448G>A	ENST00000278826.6	+	4	913	c.354G>A	c.(352-354)atG>atA	p.M118I	TMEM138_ENST00000542946.1_3'UTR|TMEM138_ENST00000381787.2_Missense_Mutation_p.M60I	NM_016464.4	NP_057548.1	Q9NPI0	TM138_HUMAN	transmembrane protein 138	118						integral to membrane				central_nervous_system(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5						GACTTCAAATGCTGTTTGTAT	0.478													A	61135448	G	A	61135448	3	1	364	1	0	0	0	0	1	0	0	0	16153	1319	46	2	364	2	TMEM138	11	61135448	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26148	61135448	73871068	8684	32186											
CPSF7	79869	broad.mit.edu	37	chr11	61196686	61196686	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcagcatatatatcaaTcaagtccactccttctgaca	12	12	4	13	1	4	1	3	1	1	0	7	1	6	1	2	0	1	1	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61196686T>C	ENST00000340437.4	-	2	231	c.151A>G	c.(151-153)Att>Gtt	p.I51V	CPSF7_ENST00000439958.3_Missense_Mutation_p.I8V|CPSF7_ENST00000394888.4_Missense_Mutation_p.I8V|CPSF7_ENST00000541963.1_Missense_Mutation_p.I8V|CPSF7_ENST00000448745.1_Missense_Mutation_p.I8V	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	8	Poly-Pro.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						TATATATCAATCAAGTCCACT	0.478													C	61196686	T	C	61196686	3	2	364	1	0	0	0	0	1	0	0	0	3861	1435	50	3	1425	3	CPSF7	11	61196686	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61238	61196686	73809830	8685	32187											
DAGLA	747	broad.mit.edu	37	chr11	61488197	61488197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctggtctataacccgCacgaggcctgctccctgaac	7	8	10	16	3	1	1	0	1	1	0	3	2	2	1	4	3	3	2	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61488197C>T	ENST00000257215.5	+	3	258	c.142C>T	c.(142-144)Cac>Tac	p.H48Y		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	48					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTATAACCCGCACGAGGCCTG	0.617													T	61488197	C	T	61488197	3	4	364	1	0	0	0	0	1	0	0	0	4260	710	25	2	148	2	DAGLA	11	61488197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291511	61488197	73518319	8686	32188											
DAGLA	747	broad.mit.edu	37	chr11	61490361	61490361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgagttcatctacgccaTcgtgggcatcgtctggctca	7	11	11	12	4	4	0	2	0	2	0	7	2	4	0	1	2	1	3	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61490361T>C	ENST00000257215.5	+	4	454	c.338T>C	c.(337-339)aTc>aCc	p.I113T		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	113					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ATCTACGCCATCGTGGGCATC	0.602													C	61490361	T	C	61490361	3	2	364	1	0	0	0	0	1	0	0	0	4260	1435	50	3	348	3	DAGLA	11	61490361	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2164	61490361	73516155	8687	32189											
DAGLA	747	broad.mit.edu	37	chr11	61507019	61507019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccaccctggccagcaCgcggctctggacccacccca	7	4	11	19	2	1	1	0	1	1	0	1	2	1	2	6	4	1	2	6	4	0	0	rs150967936		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61507019C>T	ENST00000257215.5	+	17	1855	c.1739C>T	c.(1738-1740)aCg>aTg	p.T580M		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	580					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		CTGGCCAGCACGCGGCTCTGG	0.657													T	61507019	C	T	61507019	3	4	364	1	0	0	0	0	1	0	0	0	4260	536	19	1	1801	1	DAGLA	11	61507019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16658	61507019	73499497	8688	32190											
FADS2	9415	broad.mit.edu	37	chr11	61608110	61608110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccaggcccaagctggatgGctgcaacatgattatggcca	10	7	11	13	0	0	1	0	1	0	0	0	2	0	2	4	4	3	3	4	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608110G>T	ENST00000278840.4	+	4	1161	c.531G>T	c.(529-531)tgG>tgT	p.W177C	FADS2_ENST00000257261.6_Missense_Mutation_p.W155C|FADS2_ENST00000522056.1_Missense_Mutation_p.W146C|FADS2_ENST00000521849.1_Missense_Mutation_p.W177C	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	177					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	AAGCTGGATGGCTGCAACATG	0.542													T	61608110	G	T	61608110	3	4	364	1	0	0	0	0	1	0	0	0	5411	1212	42	4	545	4	FADS2	11	61608110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101091	61608110	73398406	8689	32191											
FADS2	9415	broad.mit.edu	37	chr11	61608152	61608152	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtctacagaaaaccCaagtggaaccaccttgtcca	12	9	7	13	0	2	1	0	0	2	1	3	2	3	2	4	1	3	0	4	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61608152C>A	ENST00000278840.4	+	4	1203	c.573C>A	c.(571-573)ccC>ccA	p.P191P	FADS2_ENST00000257261.6_Silent_p.P169P|FADS2_ENST00000522056.1_Silent_p.P160P|FADS2_ENST00000521849.1_Silent_p.P191P	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	191					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	ACAGAAAACCCAAGTGGAACC	0.532													A	61608152	C	A	61608152	2	1	364	1	0	0	0	0	0	0	0	1	5411	581	21	4		4	FADS2	11	61608152	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42	61608152	73398364	8690	32192											
FADS3	3995	broad.mit.edu	37	chr11	61646218	61646218	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacccaccccaccctcacCtttagctgccccatcacgaa	10	6	3	22	1	2	0	2	0	0	0	2	1	2	0	8	0	2	1	8	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61646218C>A	ENST00000540820.1	-	4	696	c.624G>T	c.(622-624)aaG>aaT	p.K208N	FADS3_ENST00000527697.1_Splice_Site_p.K84N|FADS3_ENST00000525588.1_Splice_Site_p.K180N|FADS3_ENST00000278829.2_Splice_Site_p.K208N			Q9Y5Q0	FADS3_HUMAN	fatty acid desaturase 3	208					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|membrane fraction	heme binding|oxidoreductase activity, acting on paired donors, with oxidation of a pair of donors resulting in the reduction of molecular oxygen to two molecules of water			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CCACCCTCACCTTTAGCTGCC	0.642													A	61646218	C	A	61646218	5	1	364	1	0	0	0	0	0	0	1	0	5412	695	24	4	749	4	FADS3	11	61646218	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38066	61646218	73360298	8691	32193											
FTH1	2495	broad.mit.edu	37	chr11	61732269	61732269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccaagccagattcgggcGctcccatcttgcgcaagttg	7	8	11	15	4	1	1	0	0	1	1	3	1	2	1	4	1	2	3	4	1	2	3	rs11554842		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61732269G>A	ENST00000273550.7	-	4	716	c.482C>T	c.(481-483)gCg>gTg	p.A161V	FTH1_ENST00000526640.1_Missense_Mutation_p.A131V|FTH1_ENST00000529631.1_Intron|FTH1_ENST00000529191.1_Intron|FTH1_ENST00000532601.1_Missense_Mutation_p.A91V|BEST1_ENST00000449131.2_3'UTR	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	161					cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding			NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	AGATTCGGGCGCTCCCATCTT	0.502													A	61732269	G	A	61732269	3	1	364	1	0	0	0	0	1	0	0	0	6134	1087	38	1	73	1	FTH1	11	61732269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86051	61732269	73274247	8692	32194											
FTH1	2495	broad.mit.edu	37	chr11	61734852	61734852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttgatggcggcctctgagtCctggtggtagttctggcgca	4	12	16	9	2	2	2	0	2	2	0	3	2	3	2	2	5	0	4	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:61734852C>T	ENST00000273550.7	-	1	280	c.46G>A	c.(46-48)Gac>Aac	p.D16N	FTH1_ENST00000526640.1_Intron|FTH1_ENST00000529631.1_Missense_Mutation_p.D16N|FTH1_ENST00000529191.1_Missense_Mutation_p.D16N	NM_002032.2	NP_002023.2	P02794	FRIH_HUMAN	ferritin, heavy polypeptide 1	16	Ferritin-like diiron.				cell proliferation|cellular membrane organization|immune response|intracellular sequestering of iron ion|iron ion transport|negative regulation of cell proliferation|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|ferroxidase activity|protein binding	p.D16Y(1)		NS(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8					Iron Dextran(DB00893)	GCCTCTGAGTCCTGGTGGTAG	0.697													T	61734852	C	T	61734852	3	4	364	1	0	0	0	0	1	0	0	0	6134	855	30	2	521	2	FTH1	11	61734852	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2583	61734852	73271664	8693	32195											
SCGB1A1	7356	broad.mit.edu	37	chr11	62189789	62189789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatggaacttttcagccCtgatcaagacatgagggagg	11	9	12	9	0	2	3	2	2	0	1	2	5	2	5	2	3	3	0	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62189789C>A	ENST00000534397.1	+	3	238	c.47C>A	c.(46-48)cCt>cAt	p.P16H	SCGB1A1_ENST00000278282.2_Missense_Mutation_p.P51H|CTD-2531D15.4_ENST00000528983.1_RNA			P11684	UTER_HUMAN	secretoglobin, family 1A, member 1 (uteroglobin)	51					embryo implantation|signal transduction	extracellular region	binding|phospholipase A2 inhibitor activity			lung(1)	1						CTTTTCAGCCCTGATCAAGAC	0.547													A	62189789	C	A	62189789	3	1	364	1	0	0	0	0	1	0	0	0	13986	681	24	4	158	4	SCGB1A1	11	62189789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	454937	62189789	72816727	8694	32196											
AHNAK	79026	broad.mit.edu	37	chr11	62284747	62284747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaaaaattaaacttgggCattttgatcttggacttttt	11	18	8	4	0	1	1	0	1	1	0	1	3	1	3	0	3	1	1	0	3	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62284747C>T	ENST00000378024.4	-	5	17416	c.17142G>A	c.(17140-17142)atG>atA	p.M5714I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000525875.1_5'UTR	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5714					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TAAACTTGGGCATTTTGATCT	0.463													T	62284747	C	T	62284747	3	4	364	1	0	0	0	0	1	0	0	0	414	710	25	2	650	2	AHNAK	11	62284747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94958	62284747	72721769	8695	32197											
AHNAK	79026	broad.mit.edu	37	chr11	62285453	62285453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaacaccaatgcctggaagaCctcctccgacagtggggcct	10	6	11	14	1	0	1	0	0	0	1	2	4	2	2	6	3	2	0	6	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62285453C>T	ENST00000378024.4	-	5	16710	c.16436G>A	c.(16435-16437)gGt>gAt	p.G5479D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5479	Gly-rich.				nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCCTGGAAGACCTCCTCCGAC	0.517													T	62285453	C	T	62285453	3	4	364	1	0	0	0	0	1	0	0	0	414	507	18	2	1356	2	AHNAK	11	62285453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	706	62285453	72721063	8696	32198											
AHNAK	79026	broad.mit.edu	37	chr11	62286711	62286711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgcgatgttgacatctaCatccggagccttgaggctgg	7	10	12	12	2	1	2	0	2	1	0	2	4	2	3	3	3	3	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62286711C>T	ENST00000378024.4	-	5	15452	c.15178G>A	c.(15178-15180)Gta>Ata	p.V5060I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	5060					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGACATCTACATCCGGAGCC	0.453													T	62286711	C	T	62286711	3	4	364	1	0	0	0	0	1	0	0	0	414	478	17	2	2614	2	AHNAK	11	62286711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1258	62286711	72719805	8697	32199											
AHNAK	79026	broad.mit.edu	37	chr11	62287036	62287036	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacatctaagcttggAgcttcaactttgggtccctt	8	15	9	9	0	2	0	1	0	1	0	3	1	3	1	1	2	4	3	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62287036A>G	ENST00000378024.4	-	5	15127	c.14853T>C	c.(14851-14853)gcT>gcC	p.A4951A	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4951					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTAAGCTTGGAGCTTCAACTT	0.438													G	62287036	A	G	62287036	2	3	364	1	0	0	0	0	0	0	0	1	414	291	11	3		3	AHNAK	11	62287036	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	325	62287036	72719480	8698	32200											
AHNAK	79026	broad.mit.edu	37	chr11	62289319	62289319	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaacttgggcattttcacTttgggcatttttaagtgcca	8	16	9	8	0	1	1	1	1	0	0	1	1	1	1	1	2	2	2	1	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289319T>G	ENST00000378024.4	-	5	12844	c.12570A>C	c.(12568-12570)aaA>aaC	p.K4190N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4190					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GCATTTTCACTTTGGGCATTT	0.537													G	62289319	T	G	62289319	3	3	364	1	0	0	0	0	1	0	0	0	414	1606	56	5	5222	5	AHNAK	11	62289319	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2283	62289319	72717197	8699	32201											
AHNAK	79026	broad.mit.edu	37	chr11	62289689	62289689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatcctggcatgctgaatTtgggcattttcaccttgggc	8	14	10	9	0	1	1	1	1	0	0	2	1	2	1	2	3	1	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62289689T>C	ENST00000378024.4	-	5	12474	c.12200A>G	c.(12199-12201)aAa>aGa	p.K4067R	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4067					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CATGCTGAATTTGGGCATTTT	0.493													C	62289689	T	C	62289689	3	2	364	1	0	0	0	0	1	0	0	0	414	1841	64	3	5592	3	AHNAK	11	62289689	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	370	62289689	72716827	8700	32202											
AHNAK	79026	broad.mit.edu	37	chr11	62290342	62290342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactttccctctgggccttcGatattcacatctggaacatc	9	13	6	13	1	3	0	1	0	2	0	6	2	4	1	2	2	2	0	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62290342G>A	ENST00000378024.4	-	5	11821	c.11547C>T	c.(11545-11547)atC>atT	p.I3849I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3849					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTGGGCCTTCGATATTCACAT	0.493													A	62290342	G	A	62290342	2	1	364	1	0	0	0	0	0	0	0	1	414	1048	37	1		1	AHNAK	11	62290342	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	653	62290342	72716174	8701	32203											
AHNAK	79026	broad.mit.edu	37	chr11	62292663	62292663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcattttgaatttgggacCtttcaactttccctctgggc	7	15	9	10	0	2	1	1	1	1	0	3	2	3	2	2	3	1	1	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292663C>A	ENST00000378024.4	-	5	9500	c.9226G>T	c.(9226-9228)Ggt>Tgt	p.G3076C	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3076					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AATTTGGGACCTTTCAACTTT	0.478													A	62292663	C	A	62292663	3	1	364	1	0	0	0	0	1	0	0	0	414	681	24	4	8566	4	AHNAK	11	62292663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2321	62292663	72713853	8702	32204											
AHNAK	79026	broad.mit.edu	37	chr11	62292718	62292718	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaacatcaatgtccacCttgggtcctgagacatcaag	11	10	9	11	0	3	1	2	1	1	1	5	3	5	2	3	2	1	0	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62292718C>A	ENST00000378024.4	-	5	9445	c.9171G>T	c.(9169-9171)aaG>aaT	p.K3057N	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3057					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAATGTCCACCTTGGGTCCTG	0.488													A	62292718	C	A	62292718	3	1	364	1	0	0	0	0	1	0	0	0	414	680	24	4	8621	4	AHNAK	11	62292718	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55	62292718	72713798	8703	32205											
AHNAK	79026	broad.mit.edu	37	chr11	62294946	62294946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaattgaaatcaacatcagGcatggagatcttgggggtct	13	11	11	6	0	4	2	2	1	2	1	4	3	4	2	0	4	1	1	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62294946G>A	ENST00000378024.4	-	5	7217	c.6943C>T	c.(6943-6945)Cct>Tct	p.P2315S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2315					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAACATCAGGCATGGAGATC	0.468													A	62294946	G	A	62294946	3	1	364	1	0	0	0	0	1	0	0	0	414	1203	42	2	10849	2	AHNAK	11	62294946	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2228	62294946	72711570	8704	32206											
AHNAK	79026	broad.mit.edu	37	chr11	62295065	62295065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacatccaccttgggtcctGagacatcaacgtcagccttg	10	9	8	14	1	2	1	2	1	0	1	4	2	4	1	4	1	3	0	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62295065G>A	ENST00000378024.4	-	5	7098	c.6824C>T	c.(6823-6825)tCa>tTa	p.S2275L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2275					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTGGGTCCTGAGACATCAAC	0.512													A	62295065	G	A	62295065	3	1	364	1	0	0	0	0	1	0	0	0	414	1294	45	2	10968	2	AHNAK	11	62295065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119	62295065	72711451	8705	32207											
AHNAK	79026	broad.mit.edu	37	chr11	62297964	62297964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcaggcatcttaaacttggGgcccttcagctttccttccg	6	13	8	14	1	3	0	2	0	1	0	5	0	5	0	3	3	2	2	3	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62297964G>A	ENST00000378024.4	-	5	4199	c.3925C>T	c.(3925-3927)Ccc>Tcc	p.P1309S	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1309					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAACTTGGGGCCCTTCAGC	0.527													A	62297964	G	A	62297964	3	1	364	1	0	0	0	0	1	0	0	0	414	1232	43	2	13867	2	AHNAK	11	62297964	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2899	62297964	72708552	8706	32208											
AHNAK	79026	broad.mit.edu	37	chr11	62299568	62299568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatgtccacatcagccttgGgcaggttcacatccacttct	10	11	7	13	0	3	0	2	0	1	0	5	0	5	0	3	2	1	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62299568G>A	ENST00000378024.4	-	5	2595	c.2321C>T	c.(2320-2322)cCc>cTc	p.P774L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	774					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCAGCCTTGGGCAGGTTCAC	0.507													A	62299568	G	A	62299568	3	1	364	1	0	0	0	0	1	0	0	0	414	1232	43	2	15471	2	AHNAK	11	62299568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1604	62299568	72706948	8707	32209											
AHNAK	79026	broad.mit.edu	37	chr11	62300220	62300220	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccggaaggactgccaaGcctagggcctgtcaaggttc	8	9	12	12	1	1	0	1	0	0	0	3	2	2	2	4	4	2	1	4	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62300220G>T	ENST00000378024.4	-	5	1943	c.1669C>A	c.(1669-1671)Ctt>Att	p.L557I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	557					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGACTGCCAAGCCTAGGGCCT	0.512													T	62300220	G	T	62300220	3	4	364	1	0	0	0	0	1	0	0	0	414	971	34	4	16123	4	AHNAK	11	62300220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	652	62300220	72706296	8708	32210											
AHNAK	79026	broad.mit.edu	37	chr11	62302477	62302477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcgaggtactcaccaGaaccacttcagagctgcagg	10	5	13	13	2	2	2	2	0	0	2	2	3	2	2	3	4	4	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62302477G>T	ENST00000378024.4	-	4	614	c.340C>A	c.(340-342)Ctg>Atg	p.L114M	AHNAK_ENST00000257247.7_Missense_Mutation_p.L114M|AHNAK_ENST00000530124.1_Missense_Mutation_p.L114M	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	114					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTACTCACCAGAACCACTTCA	0.672													T	62302477	G	T	62302477	3	4	364	1	0	0	0	0	1	0	0	0	414	933	33	4	17456	4	AHNAK	11	62302477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2257	62302477	72704039	8709	32211											
MTA2	9219	broad.mit.edu	37	chr11	62361761	62361761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggccacaaacaccacaGgattgggggcatcagctggg	10	7	14	10	0	1	0	1	0	0	0	1	1	1	1	2	5	2	2	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62361761G>T	ENST00000278823.2	-	17	2200	c.1811C>A	c.(1810-1812)cCt>cAt	p.P604H	MTA2_ENST00000524902.1_Missense_Mutation_p.P431H|MTA2_ENST00000527204.1_Missense_Mutation_p.P431H	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	604					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AAACACCACAGGATTGGGGGC	0.562													T	62361761	G	T	62361761	3	4	364	1	0	0	0	0	1	0	0	0	9985	1000	35	4	203	4	MTA2	11	62361761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59284	62361761	72644755	8710	32212											
MTA2	9219	broad.mit.edu	37	chr11	62365511	62365511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccctctactaggcgatCtgggatctcagcttggtatt	7	14	9	11	1	3	0	1	0	3	0	4	2	3	1	1	3	3	2	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62365511C>A	ENST00000278823.2	-	6	864	c.475G>T	c.(475-477)Gat>Tat	p.D159Y	MTA2_ENST00000524902.1_5'UTR|MTA2_ENST00000527204.1_5'UTR	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	159	ELM2.				chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						ACTAGGCGATCTGGGATCTCA	0.478													A	62365511	C	A	62365511	3	1	364	1	0	0	0	0	1	0	0	0	9985	913	32	4	1583	4	MTA2	11	62365511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3750	62365511	72641005	8711	32213											
EML3	256364	broad.mit.edu	37	chr11	62374475	62374475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaatctgaagggctccGcccccaggtgagaatgttcc	8	9	12	12	1	1	2	0	2	1	1	3	4	3	3	4	3	0	2	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62374475G>A	ENST00000394773.2	-	12	1766	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	EML3_ENST00000531557.1_Missense_Mutation_p.R270W|EML3_ENST00000438258.1_5'UTR|EML3_ENST00000529309.1_Missense_Mutation_p.R487W|EML3_ENST00000494176.2_Missense_Mutation_p.R459W|EML3_ENST00000278845.4_Missense_Mutation_p.R488W	NM_153265.2	NP_694997.2	Q32P44	EMAL3_HUMAN	echinoderm microtubule associated protein like 3	487						cytoplasm|microtubule	protein binding			biliary_tract(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						GAAGGGCTCCGCCCCCAGGTG	0.542													A	62374475	G	A	62374475	3	1	364	1	0	0	0	0	1	0	0	0	5139	1086	38	1	1275	1	EML3	11	62374475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8964	62374475	72632041	8712	32214											
UBXN1	51035	broad.mit.edu	37	chr11	62445254	62445254	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcttctcagtcacctaccTtcttggctctctctgctttg	3	17	6	15	1	6	0	2	0	5	0	8	0	6	0	2	1	2	2	2	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62445254T>A	ENST00000294119.2	-	6	664	c.533A>T	c.(532-534)aAg>aTg	p.K178M	UBXN1_ENST00000301935.5_Splice_Site_p.K178M|UBXN1_ENST00000533000.1_Splice_Site_p.K36M|UBXN1_ENST00000529640.1_Splice_Site_p.K174M|UBXN1_ENST00000524762.1_5'UTR	NM_015853.3	NP_056937.2	Q04323	UBXN1_HUMAN	UBX domain protein 1	178	Interaction with BRCA1.				negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process	cytoplasm	ATPase binding|K6-linked polyubiquitin binding			endometrium(5)|lung(12)	17						GTCACCTACCTTCTTGGCTCT	0.433													A	62445254	T	A	62445254	5	1	364	1	0	0	0	0	0	0	1	0	17013	1623	56	5	417	5	UBXN1	11	62445254	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	70779	62445254	72561262	8713	32215											
BSCL2	26580	broad.mit.edu	37	chr11	62472962	62472962	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcccacagtaaggcaGgtactggagggtcgttgacc	8	7	15	11	1	0	1	0	1	0	0	1	2	0	2	3	5	1	4	3	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62472962G>T	ENST00000433053.1	-	3	771	c.215C>A	c.(214-216)cCt>cAt	p.P72H	BSCL2_ENST00000403550.1_Missense_Mutation_p.P8H|BSCL2_ENST00000405837.1_Missense_Mutation_p.P72H|BSCL2_ENST00000421906.1_Missense_Mutation_p.P8H|BSCL2_ENST00000278893.7_Missense_Mutation_p.P8H|BSCL2_ENST00000537604.1_5'UTR|HNRNPUL2-BSCL2_ENST00000403734.2_3'UTR|BSCL2_ENST00000360796.5_Missense_Mutation_p.P72H|BSCL2_ENST00000407022.3_Missense_Mutation_p.P8H			Q96G97	BSCL2_HUMAN	Berardinelli-Seip congenital lipodystrophy 2 (seipin)	8					cell death	integral to endoplasmic reticulum membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	12						CAGTAAGGCAGGTACTGGAGG	0.647													T	62472962	G	T	62472962	3	4	364	1	0	0	0	0	1	0	0	0	1536	1000	35	4	1213	4	BSCL2	11	62472962	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27708	62472962	72533554	8714	32216											
HNRNPUL2	221092	broad.mit.edu	37	chr11	62491095	62491095	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttttccctttgtcactccGtaagtactccttgccccaga	7	14	5	15	1	1	1	1	0	0	1	4	1	4	1	5	0	2	2	5	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62491095G>A	ENST00000301785.5	-	4	1047	c.855C>T	c.(853-855)taC>taT	p.Y285Y	HNRNPUL2-BSCL2_ENST00000403734.2_Silent_p.Y285Y	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	285	B30.2/SPRY.				cell killing	nucleus	ATP binding|nucleic acid binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGTCACTCCGTAAGTACTCC	0.463													A	62491095	G	A	62491095	2	1	364	1	0	0	0	0	0	0	0	1	7330	1140	40	1		1	HNRNPUL2	11	62491095	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18133	62491095	72515421	8715	32217											
ZBTB3	79842	broad.mit.edu	37	chr11	62519916	62519916	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcttcctggagctgcttcGtactcagaagacaggtaaag	12	9	11	9	1	1	2	1	0	0	2	3	3	2	3	1	2	4	5	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62519916G>A	ENST00000394807.3	-	2	1496	c.1371C>T	c.(1369-1371)taC>taT	p.Y457Y		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						GAGCTGCTTCGTACTCAGAAG	0.542													A	62519916	G	A	62519916	2	1	364	1	0	0	0	0	0	0	0	1	17635	1140	40	1		1	ZBTB3	11	62519916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28821	62519916	72486600	8716	32218											
ZBTB3	79842	broad.mit.edu	37	chr11	62520277	62520277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcctgggatggaactggaGctgagacaggggctggggct	8	6	20	7	0	0	1	0	1	0	1	0	6	0	4	1	7	3	3	1	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62520277G>A	ENST00000394807.3	-	2	1135	c.1010C>T	c.(1009-1011)gCt>gTt	p.A337V		NM_024784.3	NP_079060.1	Q9H5J0	ZBTB3_HUMAN	zinc finger and BTB domain containing 3	337	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(9)|ovary(2)|prostate(2)	24						tggaactggagctgagacagg	0.567													A	62520277	G	A	62520277	3	1	364	1	0	0	0	0	1	0	0	0	17635	971	34	2	718	2	ZBTB3	11	62520277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	361	62520277	72486239	8717	32219											
TAF6L	10629	broad.mit.edu	37	chr11	62549438	62549438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttgtttatgtggtcagtGgggtaagtgaccaggctggg	7	13	16	5	0	1	1	1	1	0	0	1	1	1	1	1	5	0	3	1	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62549438G>T	ENST00000294168.3	+	7	805	c.604G>T	c.(604-606)Ggg>Tgg	p.G202W	TMEM223_ENST00000527073.1_Intron	NM_006473.3	NP_006464.1	Q9Y6J9	TAF6L_HUMAN	TAF6-like RNA polymerase II, p300/CBP-associated factor (PCAF)-associated factor, 65kDa	202					chromatin remodeling|histone H3 acetylation|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	histone deacetylase complex|STAGA complex	DNA binding|protein binding|transcription coactivator activity			endometrium(2)|large_intestine(5)|lung(4)|ovary(3)|prostate(1)|skin(1)	16						TGTGGTCAGTGGGGTAAGTGA	0.527													T	62549438	G	T	62549438	3	4	364	1	0	0	0	0	1	0	0	0	15628	1348	47	4	626	4	TAF6L	11	62549438	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29161	62549438	72457078	8718	32220											
TMEM179B	374395	broad.mit.edu	37	chr11	62556618	62556618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggggcctctggcctcttgGccctctactgcctcctgctt	1	13	10	17	0	3	0	0	0	3	0	4	0	4	0	5	4	3	1	5	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62556618G>A	ENST00000333449.4	+	2	225	c.220G>A	c.(220-222)Gcc>Acc	p.A74T	TMEM179B_ENST00000533861.1_Missense_Mutation_p.A74T|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	74						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						TGGCCTCTTGGCCCTCTACTG	0.602													A	62556618	G	A	62556618	3	1	364	1	0	0	0	0	1	0	0	0	16197	1203	42	2	226	2	TMEM179B	11	62556618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7180	62556618	72449898	8719	32221											
TMEM179B	374395	broad.mit.edu	37	chr11	62557503	62557503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctctcgttgggtcacGcctttcccattcctgaagaa	8	12	9	12	2	2	3	1	1	1	2	5	3	4	3	3	1	1	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62557503G>A	ENST00000333449.4	+	5	649	c.644G>A	c.(643-645)cGc>cAc	p.R215H	TMEM223_ENST00000307366.7_3'UTR|TMEM179B_ENST00000533861.1_3'UTR|TMEM223_ENST00000525631.1_Intron|TMEM223_ENST00000527073.1_Intron	NM_199337.2	NP_955369.1	Q7Z7N9	T179B_HUMAN	transmembrane protein 179B	215						integral to membrane				kidney(1)|large_intestine(1)|liver(1)|lung(1)	4						GTTGGGTCACGCCTTTCCCAT	0.582													A	62557503	G	A	62557503	3	1	364	1	0	0	0	0	1	0	0	0	16197	1087	38	1	662	1	TMEM179B	11	62557503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	885	62557503	72449013	8720	32222											
SLC3A2	6520	broad.mit.edu	37	chr11	62655861	62655861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggcggctgagtgaccagcGgagtaaggagcgctccctac	8	5	15	13	4	0	2	0	2	0	0	1	4	1	4	3	4	3	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655861G>A	ENST00000377892.1	+	13	1906	c.1682G>A	c.(1681-1683)cGg>cAg	p.R561Q	SLC3A2_ENST00000535296.1_Missense_Mutation_p.R499Q|SLC3A2_ENST00000536981.1_Missense_Mutation_p.R75Q|SLC3A2_ENST00000338663.7_Missense_Mutation_p.R429Q|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Missense_Mutation_p.R531Q|SLC3A2_ENST00000377889.2_Missense_Mutation_p.R468Q|SLC3A2_ENST00000377890.2_Missense_Mutation_p.R530Q			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	530					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						AGTGACCAGCGGAGTAAGGAG	0.572													A	62655861	G	A	62655861	3	1	364	1	0	0	0	0	1	0	0	0	14721	1116	39	1	1735	1	SLC3A2	11	62655861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98358	62655861	72350655	8721	32223											
SLC3A2	6520	broad.mit.edu	37	chr11	62655901	62655901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatggggacttccacgcGttctccgctgggcctggact	4	10	13	14	3	1	0	0	0	1	0	3	2	2	2	3	4	1	3	3	4	0	2	rs138892942		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62655901G>A	ENST00000377892.1	+	13	1946	c.1722G>A	c.(1720-1722)gcG>gcA	p.A574A	SLC3A2_ENST00000535296.1_Silent_p.A512A|SLC3A2_ENST00000536981.1_Silent_p.A88A|SLC3A2_ENST00000338663.7_Silent_p.A442A|SLC3A2_ENST00000538682.1_3'UTR|SLC3A2_ENST00000377891.2_Silent_p.A544A|SLC3A2_ENST00000377889.2_Silent_p.A481A|SLC3A2_ENST00000377890.2_Silent_p.A543A			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	543					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						ACTTCCACGCGTTCTCCGCTG	0.597													A	62655901	G	A	62655901	2	1	364	1	0	0	0	0	0	0	0	1	14721	1132	40	1		1	SLC3A2	11	62655901	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40	62655901	72350615	8722	32224											
SLC22A8	9376	broad.mit.edu	37	chr11	62768254	62768254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgccatgaagatagactgGgccatctccttcagtttgtt	8	13	9	11	0	2	3	1	1	1	2	3	3	2	3	4	1	1	2	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62768254G>A	ENST00000336232.2	-	3	510	c.375C>T	c.(373-375)gcC>gcT	p.A125A	SLC22A8_ENST00000542795.1_5'UTR|SLC22A8_ENST00000535878.1_Silent_p.A2A|SLC22A8_ENST00000311438.8_Silent_p.A125A|SLC22A8_ENST00000430500.2_Silent_p.A125A|SLC22A8_ENST00000545207.1_Silent_p.A34A	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	125					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						AGATAGACTGGGCCATCTCCT	0.542													A	62768254	G	A	62768254	2	1	364	1	0	0	0	0	0	0	0	1	14554	1219	43	2		2	SLC22A8	11	62768254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112353	62768254	72238262	8723	32225											
SLC22A8	9376	broad.mit.edu	37	chr11	62782137	62782137	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgctgttgtagacccaGccatccaggcatggctccat	7	11	11	12	0	0	1	0	0	0	1	2	1	2	1	4	3	2	5	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62782137G>T	ENST00000336232.2	-	2	429	c.294C>A	c.(292-294)ggC>ggA	p.G98G	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000311438.8_Silent_p.G98G|SLC22A8_ENST00000430500.2_Silent_p.G98G|SLC22A8_ENST00000545207.1_Silent_p.G7G	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	98					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						TGTAGACCCAGCCATCCAGGC	0.597													T	62782137	G	T	62782137	2	4	364	1	0	0	0	0	0	0	0	1	14554	958	34	4		4	SLC22A8	11	62782137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13883	62782137	72224379	8724	32226											
SLC22A25	387601	broad.mit.edu	37	chr11	62933548	62933548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atatgatggccagaaggcagGttgccagtaggaacatgaga	14	7	14	6	0	0	3	0	2	0	2	0	5	0	4	2	4	2	3	2	4	4	3	rs151029409		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:62933548G>A	ENST00000306494.6	-	7	1252	c.1253C>T	c.(1252-1254)aCc>aTc	p.T418I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	418					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						CAGAAGGCAGGTTGCCAGTAG	0.493													A	62933548	G	A	62933548	3	1	364	1	0	0	0	0	1	0	0	0	14548	1261	44	2	402	2	SLC22A25	11	62933548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151411	62933548	72072968	8725	32227											
SLC22A10	387775	broad.mit.edu	37	chr11	63064818	63064818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgtttgctccagcttGccattactgacacctgcgct	6	13	10	12	1	0	1	0	1	0	0	1	2	1	1	3	1	5	4	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63064818G>A	ENST00000544661.1	+	4	513	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.A184T|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	184						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GCTCCAGCTTGCCATTACTGA	0.413													A	63064818	G	A	63064818	3	1	364	1	0	0	0	0	1	0	0	0	14535	1319	46	2	560	2	SLC22A10	11	63064818	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131270	63064818	71941698	8726	32228											
SLC22A9	114571	broad.mit.edu	37	chr11	63141203	63141203	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggctcccaccttcctcatTtactgctcactacgcttctt	5	16	4	16	1	3	0	2	0	1	0	5	0	5	0	3	1	3	3	3	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63141203T>C	ENST00000279178.3	+	3	843	c.594T>C	c.(592-594)atT>atC	p.I198I	SLC22A9_ENST00000310969.4_Intron	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	198					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CCTTCCTCATTTACTGCTCAC	0.458													C	63141203	T	C	63141203	2	2	364	1	0	0	0	0	0	0	0	1	14555	1829	64	3		3	SLC22A9	11	63141203	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	76385	63141203	71865313	8727	32229											
SLC22A9	114571	broad.mit.edu	37	chr11	63176244	63176244	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtattctccacccctgccCtggatcatctatggagtctt	6	14	8	13	0	4	0	1	0	3	0	5	2	4	2	4	2	1	1	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63176244C>A	ENST00000279178.3	+	9	1743	c.1494C>A	c.(1492-1494)ccC>ccA	p.P498P	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	498					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						CACCCCTGCCCTGGATCATCT	0.502													A	63176244	C	A	63176244	2	1	364	1	0	0	0	0	0	0	0	1	14555	668	24	4		4	SLC22A9	11	63176244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35041	63176244	71830272	8728	32230											
SLC22A9	114571	broad.mit.edu	37	chr11	63177288	63177288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctaggagaaaagaccccaGagaaccaaagcaagaggatc	18	4	10	9	0	1	4	0	0	1	4	2	7	1	5	3	2	2	1	3	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63177288G>A	ENST00000279178.3	+	10	1865	c.1616G>A	c.(1615-1617)aGa>aAa	p.R539K	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	539					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAGACCCCAGAGAACCAAAG	0.418													A	63177288	G	A	63177288	3	1	364	1	0	0	0	0	1	0	0	0	14555	942	33	2	1654	2	SLC22A9	11	63177288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1044	63177288	71829228	8729	32231											
PLA2G16	11145	broad.mit.edu	37	chr11	63357748	63357748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgacctggtacttgtcacTcccggccacatcatacagca	9	10	8	14	1	2	1	2	1	0	0	3	1	3	1	3	2	3	3	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63357748T>C	ENST00000323646.5	-	3	565	c.211A>G	c.(211-213)Agt>Ggt	p.S71G	PLA2G16_ENST00000394613.3_5'UTR|PLA2G16_ENST00000415826.1_Missense_Mutation_p.S71G	NM_007069.3	NP_009000.2	P53816	PAG16_HUMAN	phospholipase A2, group XVI	71					lipid catabolic process	integral to membrane|perinuclear region of cytoplasm	hydrolase activity|protein binding			kidney(2)|lung(1)|ovary(1)|skin(1)	5						TACTTGTCACTCCCGGCCACA	0.572													C	63357748	T	C	63357748	3	2	364	1	0	0	0	0	1	0	0	0	12070	1551	54	3	285	3	PLA2G16	11	63357748	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	180460	63357748	71648768	8730	32232											
ATL3	25923	broad.mit.edu	37	chr11	63398565	63398565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctccgcccagctcacgatAttgaccagaatacctgatgt	11	9	8	13	2	1	3	1	2	0	1	2	4	2	3	4	0	3	2	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63398565A>G	ENST00000398868.3	-	12	1762	c.1486T>C	c.(1486-1488)Tat>Cat	p.Y496H	ATL3_ENST00000538786.1_Missense_Mutation_p.Y478H|ATL3_ENST00000332645.4_Missense_Mutation_p.Y523H	NM_015459.3	NP_056274.3	Q6DD88	ATLA3_HUMAN	atlastin GTPase 3	496					endoplasmic reticulum organization|Golgi organization|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	GTP binding|GTPase activity|identical protein binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	11						AGCTCACGATATTGACCAGAA	0.483													G	63398565	A	G	63398565	3	3	364	1	0	0	0	0	1	0	0	0	1113	449	16	3	147	3	ATL3	11	63398565	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40817	63398565	71607951	8731	32233											
RTN3	10313	broad.mit.edu	37	chr11	63487004	63487004	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgaaatactgacttgggatCtggttccccaagtgaaacaa	14	9	9	9	1	1	2	0	2	1	0	2	4	2	3	2	2	2	1	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63487004C>T	ENST00000377819.5	+	3	1184	c.1030C>T	c.(1030-1032)Ctg>Ttg	p.L344L	RTN3_ENST00000339997.4_Silent_p.L325L|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Silent_p.L232L|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	344					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						GACTTGGGATCTGGTTCCCCA	0.408													T	63487004	C	T	63487004	2	4	364	1	0	0	0	0	0	0	0	1	13818	912	32	2		2	RTN3	11	63487004	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88439	63487004	71519512	8732	32234											
RTN3	10313	broad.mit.edu	37	chr11	63488068	63488068	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacatgaaaatgagtcCggtggttctgaaattaaaga	14	12	10	5	1	2	4	0	3	2	1	3	4	3	4	1	2	1	1	1	2	6	3	rs143833769	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63488068C>A	ENST00000377819.5	+	3	2248	c.2094C>A	c.(2092-2094)tcC>tcA	p.S698S	RTN3_ENST00000339997.4_Silent_p.S679S|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000540798.1_Silent_p.S586S|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000354497.4_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	698					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAATGAGTCCGGTGGTTCTG	0.373													A	63488068	C	A	63488068	2	1	364	1	0	0	0	0	0	0	0	1	13818	639	23	4		4	RTN3	11	63488068	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1064	63488068	71518448	8733	32235											
MARK2	2011	broad.mit.edu	37	chr11	63667395	63667395	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaacatcaagattgcagactTtggcttcagcaatgaattca	14	11	8	8	0	3	3	3	1	0	2	3	4	3	3	0	1	3	3	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63667395T>G	ENST00000402010.2	+	8	1160	c.581T>G	c.(580-582)tTt>tGt	p.F194C	MARK2_ENST00000513765.2_Missense_Mutation_p.F161C|MARK2_ENST00000413835.2_Missense_Mutation_p.F194C|MARK2_ENST00000377809.4_Missense_Mutation_p.F194C|MARK2_ENST00000502399.3_Missense_Mutation_p.F194C|MARK2_ENST00000315032.8_Missense_Mutation_p.F194C|MARK2_ENST00000408948.3_Missense_Mutation_p.F161C|MARK2_ENST00000508192.1_Missense_Mutation_p.F194C|MARK2_ENST00000377810.3_Missense_Mutation_p.F161C|MARK2_ENST00000350490.7_Missense_Mutation_p.F194C|MARK2_ENST00000509502.2_Missense_Mutation_p.F161C|MARK2_ENST00000361128.5_Missense_Mutation_p.F194C|MARK2_ENST00000425897.2_Missense_Mutation_p.F161C	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	194	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			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						ATTGCAGACTTTGGCTTCAGC	0.478													G	63667395	T	G	63667395	3	3	364	1	0	0	0	0	1	0	0	0	9388	1841	64	5	611	5	MARK2	11	63667395	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	179327	63667395	71339121	8734	32236											
MARK2	2011	broad.mit.edu	37	chr11	63676648	63676648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttcgatttaagcggatatCgggcacctccatggccttca	8	11	11	11	3	1	0	1	0	0	0	4	2	2	1	3	4	1	2	3	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63676648C>T	ENST00000402010.2	+	19	2885	c.2306C>T	c.(2305-2307)tCg>tTg	p.S769L	MARK2_ENST00000513765.2_Missense_Mutation_p.S736L|MARK2_ENST00000413835.2_Missense_Mutation_p.S715L|MARK2_ENST00000377809.4_Missense_Mutation_p.S754L|MARK2_ENST00000502399.3_Missense_Mutation_p.S759L|MARK2_ENST00000315032.8_Missense_Mutation_p.S760L|MARK2_ENST00000408948.3_Missense_Mutation_p.S672L|MARK2_ENST00000508192.1_Missense_Mutation_p.S705L|MARK2_ENST00000377810.3_Missense_Mutation_p.S672L|MARK2_ENST00000350490.7_Missense_Mutation_p.S690L|MARK2_ENST00000509502.2_Missense_Mutation_p.S726L|MARK2_ENST00000361128.5_Missense_Mutation_p.S700L|MARK2_ENST00000425897.2_Missense_Mutation_p.S680L	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	769	KA1.				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.S726L(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						AAGCGGATATCGGGCACCTCC	0.612													T	63676648	C	T	63676648	3	4	364	1	0	0	0	0	1	0	0	0	9388	893	31	1	2380	1	MARK2	11	63676648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9253	63676648	71329868	8735	32237											
FLRT1	23769	broad.mit.edu	37	chr11	63884068	63884068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaggtcaacgtgcaggTcatctacctatacgagaatg	13	8	10	10	2	3	1	2	0	1	1	3	3	3	1	2	2	4	1	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884068T>C	ENST00000246841.3	+	2	1372	c.329T>C	c.(328-330)gTc>gCc	p.V110A	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	82					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						AACGTGCAGGTCATCTACCTA	0.572													C	63884068	T	C	63884068	3	2	364	1	0	0	0	0	1	0	0	0	5987	1667	58	3	331	3	FLRT1	11	63884068	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	207420	63884068	71122448	8736	32238											
FLRT1	23769	broad.mit.edu	37	chr11	63884783	63884783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgaaggcacgggcggcCgtggtcaacgtgcggggcct	5	6	20	10	5	1	1	1	1	0	0	1	1	1	1	2	7	2	1	2	7	2	0	rs140908634		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63884783C>T	ENST00000246841.3	+	2	2087	c.1044C>T	c.(1042-1044)gcC>gcT	p.A348A	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	320	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						CACGGGCGGCCGTGGTCAACG	0.627													T	63884783	C	T	63884783	2	4	364	1	0	0	0	0	0	0	0	1	5987	639	23	1		1	FLRT1	11	63884783	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	715	63884783	71121733	8737	32239											
STIP1	10963	broad.mit.edu	37	chr11	63960582	63960582	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggagaaaggcaacaaggcCctgagcgtgggtaacatcga	15	4	14	8	2	0	2	0	1	0	1	1	4	0	2	1	4	3	2	1	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63960582C>T	ENST00000358794.5	+	2	736	c.183C>T	c.(181-183)gcC>gcT	p.A61A	STIP1_ENST00000540501.1_3'UTR|STIP1_ENST00000305218.4_Silent_p.A14A|STIP1_ENST00000543847.1_Silent_p.A14A|STIP1_ENST00000538945.1_Silent_p.A14A	NM_001282652.1	NP_001269581.1	P31948	STIP1_HUMAN	stress-induced-phosphoprotein 1	14					axon guidance|response to stress	Golgi apparatus|nucleus				endometrium(4)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(1)|skin(1)	27						GCAACAAGGCCCTGAGCGTGG	0.498													T	63960582	C	T	63960582	2	4	364	1	0	0	0	0	0	0	0	1	15381	610	22	2		2	STIP1	11	63960582	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75799	63960582	71045934	8738	32240											
FERMT3	83706	broad.mit.edu	37	chr11	63978187	63978187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtacgggatcctggccgacGcacgcctcttctttgggccc	5	9	12	15	4	2	0	0	0	2	0	3	2	3	1	4	3	1	2	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63978187G>A	ENST00000279227.5	+	3	360	c.265G>A	c.(265-267)Gca>Aca	p.A89T	FERMT3_ENST00000345728.5_Missense_Mutation_p.A89T	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	89					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CCTGGCCGACGCACGCCTCTT	0.637													A	63978187	G	A	63978187	3	1	364	1	0	0	0	0	1	0	0	0	5868	1087	38	1	271	1	FERMT3	11	63978187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17605	63978187	71028329	8739	32241											
FERMT3	83706	broad.mit.edu	37	chr11	63988555	63988555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcagaggcccagctgcGcttcatccaggcctggcagt	6	7	14	14	1	1	1	1	0	0	1	2	1	2	1	3	4	2	5	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63988555G>A	ENST00000279227.5	+	13	1720	c.1625G>A	c.(1624-1626)cGc>cAc	p.R542H	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538H	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCCCAGCTGCGCTTCATCCAG	0.667													A	63988555	G	A	63988555	3	1	364	1	0	0	0	0	1	0	0	0	5868	1087	38	1	1671	1	FERMT3	11	63988555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10368	63988555	71017961	8740	32242											
FERMT3	83706	broad.mit.edu	37	chr11	63990590	63990590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatccgcatcgacttggccGtgggcgacgtggtcaagacc	7	8	14	12	5	1	2	1	1	0	1	3	4	2	2	3	3	0	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990590G>A	ENST00000279227.5	+	14	1848	c.1753G>A	c.(1753-1755)Gtg>Atg	p.V585M	FERMT3_ENST00000345728.5_Missense_Mutation_p.V581M	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	585					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						CGACTTGGCCGTGGGCGACGT	0.612													A	63990590	G	A	63990590	3	1	364	1	0	0	0	0	1	0	0	0	5868	1145	40	1	1803	1	FERMT3	11	63990590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2035	63990590	71015926	8741	32243											
FERMT3	83706	broad.mit.edu	37	chr11	63990794	63990794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcccttcaggtggccatcGagtttgatgaacacatcaat	10	11	9	11	1	2	2	2	2	0	0	3	3	2	2	2	2	2	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63990794G>A	ENST00000279227.5	+	15	1929	c.1834G>A	c.(1834-1836)Gag>Aag	p.E612K	FERMT3_ENST00000345728.5_Missense_Mutation_p.E608K	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	612					integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGTGGCCATCGAGTTTGATGA	0.592													A	63990794	G	A	63990794	3	1	364	1	0	0	0	0	1	0	0	0	5868	1059	37	1	1888	1	FERMT3	11	63990794	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204	63990794	71015722	8742	32244											
NUDT22	84304	broad.mit.edu	37	chr11	63994254	63994254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacgaggccatcactgccAtctgggagacccggctaaag	10	5	14	12	2	2	1	1	0	1	1	2	4	2	2	3	4	1	1	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:63994254A>G	ENST00000279206.3	+	2	286	c.130A>G	c.(130-132)Atc>Gtc	p.I44V	NUDT22_ENST00000441250.2_Missense_Mutation_p.I44V	NM_001128612.2|NM_032344.2	NP_001122084.1|NP_115720	Q9BRQ3	NUD22_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 22	44							hydrolase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)	8						CATCACTGCCATCTGGGAGAC	0.697													G	63994254	A	G	63994254	3	3	364	1	0	0	0	0	1	0	0	0	10815	217	8	3	132	3	NUDT22	11	63994254	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3460	63994254	71012262	8743	32245											
VEGFB	7423	broad.mit.edu	37	chr11	64003358	64003358	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcccttgactgtggaGctcatgggcaccgtggccaa	6	9	15	11	1	1	1	1	1	0	0	1	2	1	2	3	4	2	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64003358G>A	ENST00000309422.2	+	3	473	c.177G>A	c.(175-177)gaG>gaA	p.E59E	VEGFB_ENST00000426086.2_Silent_p.E59E	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	59					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						TGACTGTGGAGCTCATGGGCA	0.627													A	64003358	G	A	64003358	2	1	364	1	0	0	0	0	0	0	0	1	17253	962	34	2		2	VEGFB	11	64003358	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9104	64003358	71003158	8744	32246											
PPP1R14B	26472	broad.mit.edu	37	chr11	64012292	64012292	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaggccagaaatgaaGgcctggatggggtgggaggg	10	5	19	7	0	0	2	0	1	0	1	1	4	1	4	3	7	1	1	3	7	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64012292G>T	ENST00000309318.3	-	4	645	c.378C>A	c.(376-378)gcC>gcA	p.A126A	PPP1R14B_ENST00000392210.2_Silent_p.A24A|PPP1R14B_ENST00000542235.1_Silent_p.A51A	NM_138689.2	NP_619634.1	Q96C90	PP14B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14B	126					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			kidney(1)|lung(1)|pancreas(1)	3						CAGAAATGAAGGCCTGGATGG	0.632													T	64012292	G	T	64012292	2	4	364	1	0	0	0	0	0	0	0	1	12442	987	35	4		4	PPP1R14B	11	64012292	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8934	64012292	70994224	8745	32247											
PLCB3	5331	broad.mit.edu	37	chr11	64026160	64026160	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgccctaccccgtcatcCtctccttcgagaaccatgtg	6	10	6	19	3	2	1	1	0	1	1	6	2	3	1	7	0	2	0	7	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64026160C>A	ENST00000540288.1	+	11	1331	c.1228C>A	c.(1228-1230)Ctc>Atc	p.L410I	PLCB3_ENST00000279230.6_Missense_Mutation_p.L410I|PLCB3_ENST00000325234.5_Missense_Mutation_p.L343I	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	410	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCCCGTCATCCTCTCCTTCGA	0.602													A	64026160	C	A	64026160	3	1	364	1	0	0	0	0	1	0	0	0	12106	681	24	4	1270	4	PLCB3	11	64026160	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13868	64026160	70980356	8746	32248											
PLCB3	5331	broad.mit.edu	37	chr11	64027527	64027527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagctctgacagctgcccaGgcctgagcaatggggaggag	9	5	15	12	0	1	2	0	2	1	0	1	4	1	4	3	4	4	3	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64027527G>T	ENST00000540288.1	+	14	1655	c.1552G>T	c.(1552-1554)Ggc>Tgc	p.G518C	PLCB3_ENST00000279230.6_Missense_Mutation_p.G518C|PLCB3_ENST00000325234.5_Missense_Mutation_p.G451C	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	518					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CAGCTGCCCAGGCCTGAGCAA	0.622													T	64027527	G	T	64027527	3	4	364	1	0	0	0	0	1	0	0	0	12106	1000	35	4	1606	4	PLCB3	11	64027527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1367	64027527	70978989	8747	32249											
PLCB3	5331	broad.mit.edu	37	chr11	64032853	64032853	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccggagccggcaagagCgagacctgcgggagctgcgc	8	3	17	13	5	0	2	0	0	0	2	1	5	1	4	3	3	6	3	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64032853C>T	ENST00000540288.1	+	25	3017	c.2914C>T	c.(2914-2916)Cga>Tga	p.R972*	PLCB3_ENST00000279230.6_Nonsense_Mutation_p.R972*|PLCB3_ENST00000325234.5_Nonsense_Mutation_p.R905*	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	972					intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						CCGGCAAGAGCGAGACCTGCG	0.687													T	64032853	C	T	64032853	4	4	364	1	0	0	0	0	0	1	0	0	12106	760	27	1	3012	1	PLCB3	11	64032853	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5326	64032853	70973663	8748	32250											
ESRRA	2101	broad.mit.edu	37	chr11	64081741	64081741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgcgtccggggtgggcGgcagaagtacaagcggcggc	7	3	20	11	6	0	1	0	0	0	1	1	2	1	2	2	7	2	2	2	7	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64081741G>A	ENST00000405666.1	+	4	707	c.473G>A	c.(472-474)cGg>cAg	p.R158Q	ESRRA_ENST00000406310.1_Missense_Mutation_p.R158Q|ESRRA_ENST00000000442.6_Missense_Mutation_p.R158Q	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	158					positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						CGGGGTGGGCGGCAGAAGTAC	0.682													A	64081741	G	A	64081741	3	1	364	1	0	0	0	0	1	0	0	0	5301	1116	39	1	483	1	ESRRA	11	64081741	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48888	64081741	70924775	8749	32251											
ESRRA	2101	broad.mit.edu	37	chr11	64083220	64083220	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaggctgtggagcagctgCgagaagctctgcacgaggcc	8	5	16	12	3	1	1	0	0	1	1	1	5	1	2	2	3	5	5	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64083220C>T	ENST00000405666.1	+	7	1288	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*	ESRRA_ENST00000406310.1_Nonsense_Mutation_p.R351*|ESRRA_ENST00000000442.6_Nonsense_Mutation_p.R352*	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	352	Ligand binding domain.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein domain specific binding|sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GGAGCAGCTGCGAGAAGCTCT	0.667													T	64083220	C	T	64083220	4	4	364	1	0	0	0	0	0	1	0	0	5301	760	27	1	1076	1	ESRRA	11	64083220	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1479	64083220	70923296	8750	32252											
CCDC88B	283234	broad.mit.edu	37	chr11	64120274	64120274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaggaggtggccctgctgGcagagcgtgaacgcctgatg	8	6	16	11	2	0	3	0	2	0	1	0	4	0	4	2	4	3	2	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64120274G>A	ENST00000356786.5	+	20	3459	c.3415G>A	c.(3415-3417)Gca>Aca	p.A1139T	CCDC88B_ENST00000463837.1_3'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.A291T|CCDC88B_ENST00000301897.4_5'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1139					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGCCCTGCTGGCAGAGCGTGA	0.677													A	64120274	G	A	64120274	3	1	364	1	0	0	0	0	1	0	0	0	2892	1203	42	2	3493	2	CCDC88B	11	64120274	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37054	64120274	70886242	8751	32253											
RASGRP2	10235	broad.mit.edu	37	chr11	64504321	64504321	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctaaagagctgcttcatCttggccccgttgagccgggt	7	11	12	11	2	2	2	1	1	1	1	2	2	2	2	3	2	4	4	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64504321C>A	ENST00000377494.1	-	8	1921	c.999G>T	c.(997-999)aaG>aaT	p.K333N	RASGRP2_ENST00000354024.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000394432.3_Missense_Mutation_p.K333N|RASGRP2_ENST00000377497.3_Missense_Mutation_p.K333N			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	333	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCTGCTTCATCTTGGCCCCGT	0.657													A	64504321	C	A	64504321	3	1	364	1	0	0	0	0	1	0	0	0	13163	912	32	4	862	4	RASGRP2	11	64504321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	384047	64504321	70502195	8752	32254											
PYGM	5837	broad.mit.edu	37	chr11	64527346	64527346	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatttgctttcttttctCttggtctgacaggggccggg	4	16	12	9	1	3	2	0	2	3	0	4	2	3	2	1	4	1	1	1	4	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64527346C>A	ENST00000164139.3	-	1	423	c.25G>T	c.(25-27)Gag>Tag	p.E9*	PYGM_ENST00000377432.3_Nonsense_Mutation_p.E9*	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	9					glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTTCTTTTCTCTTGGTCTGAC	0.592													A	64527346	C	A	64527346	4	1	364	1	0	0	0	0	0	1	0	0	12950	922	32	4	2583	4	PYGM	11	64527346	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23025	64527346	70479170	8753	32255											
SF1	7536	broad.mit.edu	37	chr11	64533621	64533621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgctcgtggtggtagtcGtcgtatctggggtggtaaag	6	11	17	7	4	1	0	0	0	1	0	4	0	1	0	0	5	1	4	0	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64533621G>A	ENST00000377390.3	-	13	1926	c.1589C>T	c.(1588-1590)aCg>aTg	p.T530M	SF1_ENST00000377387.1_Intron|SF1_ENST00000334944.5_Missense_Mutation_p.T530M|SF1_ENST00000377394.3_Intron|SF1_ENST00000433274.2_Missense_Mutation_p.T504M|SF1_ENST00000422298.2_Intron|SF1_ENST00000227503.9_Intron	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	530	Pro-rich.				nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGTGGTAGTCGTCGTATCTGG	0.677													A	64533621	G	A	64533621	3	1	364	1	0	0	0	0	1	0	0	0	14238	1145	40	1	468	1	SF1	11	64533621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6275	64533621	70472895	8754	32256											
SF1	7536	broad.mit.edu	37	chr11	64540927	64540927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagggttaggggggatgcCcaggtctcctgtgcgcagtt	5	10	16	10	1	2	0	1	0	1	0	3	1	2	1	2	5	2	3	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64540927C>A	ENST00000377390.3	-	3	548	c.211G>T	c.(211-213)Ggc>Tgc	p.G71C	SF1_ENST00000377387.1_Missense_Mutation_p.G196C|SF1_ENST00000334944.5_Missense_Mutation_p.G71C|SF1_ENST00000377394.3_Missense_Mutation_p.G71C|SF1_ENST00000433274.2_Missense_Mutation_p.G45C|SF1_ENST00000422298.2_Intron|SF1_ENST00000227503.9_Missense_Mutation_p.G71C	NM_004630.3	NP_004621.2	Q15637	SF01_HUMAN	splicing factor 1	71					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGGGGGATGCCCAGGTCTCCT	0.443													A	64540927	C	A	64540927	3	1	364	1	0	0	0	0	1	0	0	0	14238	623	22	4	1890	4	SF1	11	64540927	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7306	64540927	70465589	8755	32257											
MEN1	4221	broad.mit.edu	37	chr11	64575411	64575411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccctgcggtcctcgttGcccttgccgtgccaggtgac	2	10	13	16	3	0	1	0	1	0	0	2	1	1	1	6	3	4	1	6	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64575411G>A	ENST00000337652.1	-	3	1124	c.621C>T	c.(619-621)ggC>ggT	p.G207G	MEN1_ENST00000443283.1_Silent_p.G207G|MEN1_ENST00000377316.2_Silent_p.G202G|MEN1_ENST00000377313.1_Silent_p.G207G|MEN1_ENST00000312049.6_Silent_p.G202G|MEN1_ENST00000377326.3_Silent_p.G202G|MEN1_ENST00000394374.2_Silent_p.G207G|MEN1_ENST00000315422.4_Silent_p.G202G|MEN1_ENST00000394376.1_Silent_p.G207G|MEN1_ENST00000377321.1_Intron	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	207					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GGTCCTCGTTGCCCTTGCCGT	0.622			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				A	64575411	G	A	64575411	2	1	364	1	0	0	0	0	0	0	0	1	9547	1306	46	2		2	MEN1	11	64575411	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34484	64575411	70431105	8756	32258											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594754	64594754	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcgtgcacgcgcacctgcGctgctgcttctgctgctcct	2	11	11	17	5	1	0	0	0	1	0	3	0	2	0	2	0	6	7	2	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594754G>A	ENST00000342711.5	-	33	4266	c.4267C>T	c.(4267-4269)Cgc>Tgc	p.R1423C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1423					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCGCACCTGCGCTGCTGCTTC	0.677													A	64594754	G	A	64594754	3	1	364	1	0	0	0	0	1	0	0	0	3104	1087	38	1	408	1	CDC42BPG	11	64594754	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19343	64594754	70411762	8757	32259											
CDC42BPG	55561	broad.mit.edu	37	chr11	64594799	64594799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcggaaaaagaagcggcGcttgctcttggtgcggaaca	11	6	14	10	5	1	1	0	0	1	1	1	3	1	3	0	4	4	2	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64594799G>A	ENST00000342711.5	-	33	4221	c.4222C>T	c.(4222-4224)Cgc>Tgc	p.R1408C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1408					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						AAGAAGCGGCGCTTGCTCTTG	0.667													A	64594799	G	A	64594799	3	1	364	1	0	0	0	0	1	0	0	0	3104	1087	38	1	453	1	CDC42BPG	11	64594799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	64594799	70411717	8758	32260											
EHD1	10938	broad.mit.edu	37	chr11	64622267	64622267	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccagcatgtcatccacCgtgtccagcagcttgggctt	6	11	11	13	1	1	0	1	0	0	0	3	0	3	0	4	2	3	4	4	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64622267C>T	ENST00000320631.3	-	5	1397	c.1143G>A	c.(1141-1143)acG>acA	p.T381T	EHD1_ENST00000359393.2_Silent_p.T381T|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	381					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGTCATCCACCGTGTCCAGCA	0.637													T	64622267	C	T	64622267	2	4	364	1	0	0	0	0	0	0	0	1	5016	639	23	1		1	EHD1	11	64622267	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27468	64622267	70384249	8759	32261											
ATG2A	23130	broad.mit.edu	37	chr11	64662655	64662655	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgatgccacgtcacaGatggtctgagctgtatccaa	9	8	10	14	3	2	2	1	1	1	1	3	3	3	2	4	1	2	2	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64662655G>T	ENST00000421419.2	-	41	5727	c.5613C>A	c.(5611-5613)atC>atA	p.I1871I	ATG2A_ENST00000377264.3_Silent_p.I1869I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1869							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						CCACGTCACAGATGGTCTGAG	0.682													T	64662655	G	T	64662655	2	4	364	1	0	0	0	0	0	0	0	1	1098	932	33	4		4	ATG2A	11	64662655	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40388	64662655	70343861	8760	32262											
ATG2A	23130	broad.mit.edu	37	chr11	64664287	64664287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctggttcttgcggatGtcctgcagccactcgttgag	5	11	14	11	2	1	1	0	1	1	0	3	2	2	2	2	3	4	5	2	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64664287G>A	ENST00000421419.2	-	38	5325	c.5211C>T	c.(5209-5211)gaC>gaT	p.D1737D	ATG2A_ENST00000377264.3_Silent_p.D1735D			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1735							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TCTTGCGGATGTCCTGCAGCC	0.637											OREG0004026	type=REGULATORY REGION|Gene=BC027481|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	64664287	G	A	64664287	2	1	364	1	0	0	0	0	0	0	0	1	1098	1368	48	2		2	ATG2A	11	64664287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1632	64664287	70342229	8761	32263											
ATG2A	23130	broad.mit.edu	37	chr11	64674212	64674212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacagtactgggagaCgctgaagagggtaccgtgct	9	7	15	10	2	0	3	0	1	0	2	0	4	0	3	2	3	3	4	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64674212C>T	ENST00000421419.2	-	20	3022	c.2908G>A	c.(2908-2910)Gtc>Atc	p.V970I	ATG2A_ENST00000377264.3_Missense_Mutation_p.V970I			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	970							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TACTGGGAGACGCTGAAGAGG	0.622													T	64674212	C	T	64674212	3	4	364	1	0	0	0	0	1	0	0	0	1098	536	19	1	2996	1	ATG2A	11	64674212	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9925	64674212	70332304	8762	32264											
C11orf85	283129	broad.mit.edu	37	chr11	64708114	64708114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgggtttttctttccCtattctgttaaaaagaagac	9	18	7	7	0	2	2	0	0	2	2	3	2	3	2	1	1	0	3	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64708114C>A	ENST00000536065.1	-	10	1528	c.224G>T	c.(223-225)aGg>aTg	p.R75M	C11orf85_ENST00000530444.1_Missense_Mutation_p.R103M|C11orf85_ENST00000432175.1_Missense_Mutation_p.G160W|C11orf85_ENST00000301896.5_Missense_Mutation_p.G160W			Q3KP22	CK085_HUMAN	chromosome 11 open reading frame 85	41										breast(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	7						TTTTCTTTCCCTATTCTGTTA	0.408													A	64708114	C	A	64708114	3	1	364	1	0	0	0	0	1	0	0	0	1680	681	24	4	180	4	C11orf85	11	64708114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33902	64708114	70298402	8763	32265											
SNX15	29907	broad.mit.edu	37	chr11	64799950	64799950	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccgcaagctgcatggagaCctggcctacacccaccgcaa	10	6	9	16	2	0	1	0	0	0	1	1	2	1	1	5	2	3	4	5	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64799950C>T	ENST00000377244.3	+	3	313	c.183C>T	c.(181-183)gaC>gaT	p.D61D	SNX15_ENST00000352068.5_Silent_p.D61D|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	61	PX.				cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						TGCATGGAGACCTGGCCTACA	0.622													T	64799950	C	T	64799950	2	4	364	1	0	0	0	0	0	0	0	1	14980	506	18	2		2	SNX15	11	64799950	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91836	64799950	70206566	8764	32266											
SNX15	29907	broad.mit.edu	37	chr11	64806070	64806070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccccagccccacccatGtggctgagctggcaacgatg	8	5	11	17	1	0	1	0	1	0	0	0	2	0	1	5	2	4	3	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64806070G>A	ENST00000377244.3	+	7	821	c.691G>A	c.(691-693)Gtg>Atg	p.V231M	SNX15_ENST00000352068.5_Intron|RP11-399J13.3_ENST00000301886.3_3'UTR	NM_013306.4|NM_147777.3	NP_037438.2|NP_680086.2	Q9NRS6	SNX15_HUMAN	sorting nexin 15	231					cell communication|intracellular protein transport	cytoplasmic vesicle membrane|cytosol	phosphatidylinositol binding|protein transporter activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14						CCCCACCCATGTGGCTGAGCT	0.642													A	64806070	G	A	64806070	3	1	364	1	0	0	0	0	1	0	0	0	14980	1377	48	2	717	2	SNX15	11	64806070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6120	64806070	70200446	8765	32267											
NAALADL1	10004	broad.mit.edu	37	chr11	64824954	64824954	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgccccggttggcataGacgaggaggccctagtccca	7	6	13	15	4	0	1	0	0	0	1	2	3	2	2	5	4	0	2	5	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64824954G>T	ENST00000358658.3	-	4	519	c.492C>A	c.(490-492)gtC>gtA	p.V164V	NAALADL1_ENST00000356632.3_Silent_p.V164V|NAALADL1_ENST00000355369.2_Silent_p.V164V|NAALADL1_ENST00000339885.2_Silent_p.V164V|NAALADL1_ENST00000340252.4_Silent_p.V164V|NAALADL1_ENST00000355721.3_Intron	NM_005468.2	NP_005459.2	Q9UQQ1	NALDL_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 1	164					proteolysis	apical plasma membrane|integral to membrane	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	29						GGTTGGCATAGACGAGGAGGC	0.592													T	64824954	G	T	64824954	2	4	364	1	0	0	0	0	0	0	0	1	10205	929	33	4		4	NAALADL1	11	64824954	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18884	64824954	70181562	8766	32268											
ZFPL1	7542	broad.mit.edu	37	chr11	64852626	64852626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaatggctccaagatagcGactacaaccccaattgccgc	12	7	8	14	2	0	1	0	0	0	1	1	2	1	1	4	1	5	2	4	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64852626G>A	ENST00000294258.3	+	3	294	c.142G>A	c.(142-144)Gac>Aac	p.D48N		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	48					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCAAGATAGCGACTACAACCC	0.602													A	64852626	G	A	64852626	3	1	364	1	0	0	0	0	1	0	0	0	17757	1058	37	1	148	1	ZFPL1	11	64852626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27672	64852626	70153890	8767	32269											
TM7SF2	7108	broad.mit.edu	37	chr11	64880801	64880801	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttggcgtttgtcgccacCctcaccgctttcatcttcag	4	13	7	17	3	4	0	3	0	1	0	5	0	4	0	4	1	0	2	4	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64880801C>A	ENST00000279263.7	+	4	576	c.414C>A	c.(412-414)acC>acA	p.T138T	TM7SF2_ENST00000540748.1_Silent_p.T22T|TM7SF2_ENST00000345348.5_Silent_p.T138T|TM7SF2_ENST00000531029.1_3'UTR	NM_003273.2	NP_003264.2	O76062	ERG24_HUMAN	transmembrane 7 superfamily member 2	138					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane	delta14-sterol reductase activity			lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TTGTCGCCACCCTCACCGCTT	0.647											OREG0021072	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	64880801	C	A	64880801	2	1	364	1	0	0	0	0	0	0	0	1	16074	610	22	4		4	TM7SF2	11	64880801	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28175	64880801	70125715	8768	32270											
ZNHIT2	741	broad.mit.edu	37	chr11	64884244	64884244	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtcgggccctcgcccagCaggatgcgggcgacctcgtg	4	7	16	14	5	0	0	0	0	0	0	3	2	0	1	3	4	2	1	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64884244C>T	ENST00000310597.4	-	1	926	c.882G>A	c.(880-882)ctG>ctA	p.L294L		NM_014205.2	NP_055020.1	Q9UHR6	ZNHI2_HUMAN	zinc finger, HIT-type containing 2	294							metal ion binding			breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6						CCTCGCCCAGCAGGATGCGGG	0.706													T	64884244	C	T	64884244	2	4	364	1	0	0	0	0	0	0	0	1	18306	697	25	2		2	ZNHIT2	11	64884244	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3443	64884244	70122272	8769	32271											
SPDYC	387778	broad.mit.edu	37	chr11	64940338	64940338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacttgcttaagcctgtgTcatccaagtgcccttctctg	6	13	8	14	0	2	0	1	0	1	0	4	0	3	0	4	0	3	1	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:64940338T>C	ENST00000377185.2	+	6	782	c.700T>C	c.(700-702)Tca>Cca	p.S234P		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	234					cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						TAAGCCTGTGTCATCCAAGTG	0.597													C	64940338	T	C	64940338	3	2	364	1	0	0	0	0	1	0	0	0	15124	1667	58	3	722	3	SPDYC	11	64940338	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56094	64940338	70066178	8770	32272											
SLC22A20	440044	broad.mit.edu	37	chr11	65000723	65000723	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggaatcatcaacaccccGgccatgctggtggccaccgc	8	8	10	15	2	2	0	2	0	0	0	2	1	2	1	5	4	2	1	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65000723G>A	ENST00000525437.1	+	0	1184							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						TCAACACCCCGGCCATGCTGG	0.602													A	65000723	G	A	65000723	1	1	364	0	1	0	0	0	0	0	0	0	14546	1131	39	1		1	SLC22A20	11	65000723	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60385	65000723	70005793	8771	32273											
CDC42EP2	10435	broad.mit.edu	37	chr11	65088786	65088786	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacctggagacccctcaGccttccccacaggagggagg	8	5	12	16	0	1	1	1	0	0	1	2	4	2	3	6	4	2	1	6	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65088786G>T	ENST00000544348.1	+	2	1023	c.417G>T	c.(415-417)caG>caT	p.Q139H	CDC42EP2_ENST00000279249.2_Missense_Mutation_p.Q139H|CDC42EP2_ENST00000533419.1_Missense_Mutation_p.Q139H			O14613	BORG1_HUMAN	CDC42 effector protein (Rho GTPase binding) 2	139					actin filament organization|positive regulation of actin filament polymerization|positive regulation of pseudopodium assembly|regulation of cell shape	cytoplasm|cytoskeleton|endomembrane system|plasma membrane	GTP-Rho binding|Rho GTPase activator activity			lung(1)	1						AGACCCCTCAGCCTTCCCCAC	0.672													T	65088786	G	T	65088786	3	4	364	1	0	0	0	0	1	0	0	0	3106	962	34	4	419	4	CDC42EP2	11	65088786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88063	65088786	69917730	8772	32274											
DPF2	5977	broad.mit.edu	37	chr11	65109026	65109026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgaccaacagtcgagCgcgaaaggtacaggattatc	12	8	11	10	3	0	1	0	1	0	0	3	4	1	2	2	2	3	1	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65109026C>T	ENST00000528416.1	+	4	591	c.458C>T	c.(457-459)gCg>gTg	p.A153V	DPF2_ENST00000415073.2_Missense_Mutation_p.A153V|DPF2_ENST00000532264.1_3'UTR|DPF2_ENST00000252268.4_Missense_Mutation_p.A153V	NM_006268.4	NP_006259.1	Q92785	REQU_HUMAN	D4, zinc and double PHD fingers family 2	153					apoptosis|induction of apoptosis by extracellular signals|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)	23						AACAGTCGAGCGCGAAAGGTA	0.562													T	65109026	C	T	65109026	3	4	364	1	0	0	0	0	1	0	0	0	4756	768	27	1	472	1	DPF2	11	65109026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20240	65109026	69897490	8773	32275											
LTBP3	4054	broad.mit.edu	37	chr11	65319442	65319442	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagaaggggtcaggctagaCctctctcttcctctgtgtcc	6	12	10	13	0	5	2	2	0	3	2	8	2	7	2	3	3	0	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65319442C>T	ENST00000301873.5	-	8	1800		c.e8+1		LTBP3_ENST00000322147.4_Splice_Site|LTBP3_ENST00000536982.1_Splice_Site	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3							extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						TCAGGCTAGACCTCTCTCTTC	0.602											OREG0021081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65319442	C	T	65319442	5	4	364	1	0	0	0	0	0	0	1	0	9145	521	18	2	2463	2	LTBP3	11	65319442	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210416	65319442	69687074	8774	32276											
LTBP3	4054	broad.mit.edu	37	chr11	65320346	65320346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaatgcactgtgtacGggaggggcctaaactatggc	10	8	12	11	1	1	0	1	0	0	0	1	1	1	1	2	4	3	2	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65320346G>A	ENST00000301873.5	-	6	1439	c.1171C>T	c.(1171-1173)Cgt>Tgt	p.R391C	LTBP3_ENST00000322147.4_Missense_Mutation_p.R391C|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	391	EGF-like 2; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CACTGTGTACGGGAGGGGCCT	0.602													A	65320346	G	A	65320346	3	1	364	1	0	0	0	0	1	0	0	0	9145	1116	39	1	2832	1	LTBP3	11	65320346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	904	65320346	69686170	8775	32277											
LTBP3	4054	broad.mit.edu	37	chr11	65325242	65325242	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccggcgcaaagaccacCttgaagcgctcgcgggccag	10	4	12	15	5	1	2	1	1	0	1	2	2	1	2	4	2	1	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65325242C>A	ENST00000301873.5	-	1	457	c.189G>T	c.(187-189)aaG>aaT	p.K63N	LTBP3_ENST00000322147.4_Missense_Mutation_p.K63N	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	63	Gly-rich.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CAAAGACCACCTTGAAGCGCT	0.711													A	65325242	C	A	65325242	3	1	364	1	0	0	0	0	1	0	0	0	9145	680	24	4	3834	4	LTBP3	11	65325242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4896	65325242	69681274	8776	32278											
EHBP1L1	254102	broad.mit.edu	37	chr11	65347678	65347678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcagtgaaggtggtgcagGctgagctgagcctcactctt	8	10	14	9	0	3	3	2	3	1	0	3	3	3	3	1	3	3	3	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65347678G>A	ENST00000309295.4	+	5	704	c.439G>A	c.(439-441)Gct>Act	p.A147T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	147										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGTGGTGCAGGCTGAGCTGAG	0.667													A	65347678	G	A	65347678	3	1	364	1	0	0	0	0	1	0	0	0	5015	1203	42	2	457	2	EHBP1L1	11	65347678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22436	65347678	69658838	8777	32279											
EHBP1L1	254102	broad.mit.edu	37	chr11	65349686	65349686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagaagtgaggggtggaGcacctggtattgaggggaca	10	7	19	5	0	0	3	0	2	0	1	0	5	0	5	1	6	2	3	1	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65349686G>A	ENST00000309295.4	+	9	1808	c.1543G>A	c.(1543-1545)Gca>Aca	p.A515T		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	515										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GAGGGGTGGAGCACCTGGTAT	0.652													A	65349686	G	A	65349686	3	1	364	1	0	0	0	0	1	0	0	0	5015	971	34	2	1577	2	EHBP1L1	11	65349686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2008	65349686	69656830	8778	32280											
EHBP1L1	254102	broad.mit.edu	37	chr11	65351009	65351009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggggcttggggggcccagGaagcagagatgaaggtttta	9	8	18	6	0	0	2	0	1	0	1	0	4	0	3	1	7	1	3	1	7	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65351009G>A	ENST00000309295.4	+	9	3131	c.2866G>A	c.(2866-2868)Gaa>Aaa	p.E956K		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	956										central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GGGGGCCCAGGAAGCAGAGAT	0.542													A	65351009	G	A	65351009	3	1	364	1	0	0	0	0	1	0	0	0	5015	1175	41	2	2900	2	EHBP1L1	11	65351009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1323	65351009	69655507	8779	32281											
KCNK7	10089	broad.mit.edu	37	chr11	65360609	65360609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtctgaagaacttccccatgGcacggacctgcggcagctca	9	7	11	14	2	2	2	1	1	1	1	3	3	3	3	3	3	3	3	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65360609G>A	ENST00000340313.4	-	3	1014	c.791C>T	c.(790-792)gCc>gTc	p.A264V	KCNK7_ENST00000394216.2_3'UTR|KCNK7_ENST00000342202.4_3'UTR|KCNK7_ENST00000394217.2_3'UTR	NM_033347.1	NP_203133.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	264						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						CTTCCCCATGGCACGGACCTG	0.622													A	65360609	G	A	65360609	3	1	364	1	0	0	0	0	1	0	0	0	8129	1203	42	2	136	2	KCNK7	11	65360609	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9600	65360609	69645907	8780	32282											
KCNK7	10089	broad.mit.edu	37	chr11	65361297	65361297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagggctgcatagaccAtgcagaaggcctttccgcct	8	7	11	15	1	0	2	0	0	0	2	1	2	1	2	6	2	2	3	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65361297A>G	ENST00000394216.2	-	2	591	c.368T>C	c.(367-369)aTg>aCg	p.M123T	KCNK7_ENST00000340313.4_Missense_Mutation_p.M123T|KCNK7_ENST00000342202.4_Missense_Mutation_p.M123T|KCNK7_ENST00000394217.2_Missense_Mutation_p.M123T	NM_005714.1|NM_033455.1	NP_005705.1|NP_258416.1	Q9Y2U2	KCNK7_HUMAN	potassium channel, subfamily K, member 7	123						integral to membrane	potassium channel activity|voltage-gated ion channel activity			endometrium(1)|liver(1)|lung(1)	3						TGCATAGACCATGCAGAAGGC	0.627											OREG0021083	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	65361297	A	G	65361297	3	3	364	1	0	0	0	0	1	0	0	0	8129	217	8	3	664	3	KCNK7	11	65361297	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	688	65361297	69645219	8781	32283											
MAP3K11	4296	broad.mit.edu	37	chr11	65366003	65366003	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgaaggggcgagggcCgaggtcggctgatgaggccc	6	4	21	10	4	0	2	0	2	0	0	1	5	0	2	2	7	1	2	2	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65366003C>T	ENST00000309100.3	-	10	2788	c.2303G>A	c.(2302-2304)cGg>cAg	p.R768Q	MAP3K11_ENST00000530153.1_Missense_Mutation_p.R511Q|MAP3K11_ENST00000532507.1_Missense_Mutation_p.R184Q	NM_002419.3	NP_002410.1	Q16584	M3K11_HUMAN	mitogen-activated protein kinase kinase kinase 11	768	Pro-rich.				activation of JUN kinase activity|cell proliferation|G1 phase of mitotic cell cycle|microtubule-based process|positive regulation of JNK cascade|protein autophosphorylation	centrosome|microtubule	ATP binding|JUN kinase kinase kinase activity|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(14)|skin(1)	24						GGGCGAGGGCCGAGGTCGGCT	0.682													T	65366003	C	T	65366003	3	4	364	1	0	0	0	0	1	0	0	0	9320	652	23	1	244	1	MAP3K11	11	65366003	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4706	65366003	69640513	8782	32284											
PCNXL3	399909	broad.mit.edu	37	chr11	65396306	65396306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagactcggccatgctgttCgtccaggccctgctctcggg	4	10	12	15	3	2	1	1	0	1	1	6	1	3	1	3	3	2	3	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65396306C>T	ENST00000355703.3	+	24	4367	c.3828C>T	c.(3826-3828)ttC>ttT	p.F1276F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1276						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCATGCTGTTCGTCCAGGCCC	0.667													T	65396306	C	T	65396306	2	4	364	1	0	0	0	0	0	0	0	1	11669	883	31	1		1	PCNXL3	11	65396306	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30303	65396306	69610210	8783	32285											
PCNXL3	399909	broad.mit.edu	37	chr11	65402798	65402798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagggtgacccagcatggcGcagcgccatcctcagcaaca	10	5	12	14	2	1	2	1	2	0	0	2	2	2	2	3	2	4	3	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65402798G>A	ENST00000355703.3	+	31	5602	c.5063G>A	c.(5062-5064)cGc>cAc	p.R1688H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1688						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CCAGCATGGCGCAGCGCCATC	0.612													A	65402798	G	A	65402798	3	1	364	1	0	0	0	0	1	0	0	0	11669	1087	38	1	5185	1	PCNXL3	11	65402798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6492	65402798	69603718	8784	32286											
PCNXL3	399909	broad.mit.edu	37	chr11	65403922	65403922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgcggtcctccctgagtgGctctggtgatgggcggcccc	2	8	16	15	3	1	2	0	2	1	0	3	2	3	2	5	5	0	1	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65403922G>A	ENST00000355703.3	+	34	6193	c.5654G>A	c.(5653-5655)gGc>gAc	p.G1885D		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1885	Gly-rich.					integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TCCCTGAGTGGCTCTGGTGAT	0.692													A	65403922	G	A	65403922	3	1	364	1	0	0	0	0	1	0	0	0	11669	1203	42	2	5788	2	PCNXL3	11	65403922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1124	65403922	69602594	8785	32287											
SIPA1	6494	broad.mit.edu	37	chr11	65409022	65409022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcggcctacagcctggaGcacgcagacctgggtgctgg	7	6	14	14	2	0	1	0	0	0	1	1	2	0	2	4	4	4	3	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65409022G>A	ENST00000394224.3	+	2	926	c.630G>A	c.(628-630)gaG>gaA	p.E210E	SIPA1_ENST00000534313.1_Silent_p.E210E|SIPA1_ENST00000527525.1_Silent_p.E210E|SIPA1_ENST00000394227.3_Silent_p.E210E	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	210					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						ACAGCCTGGAGCACGCAGACC	0.622													A	65409022	G	A	65409022	2	1	364	1	0	0	0	0	0	0	0	1	14422	962	34	2		2	SIPA1	11	65409022	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5100	65409022	69597494	8786	32288											
SIPA1	6494	broad.mit.edu	37	chr11	65413705	65413705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctagctcctccggaagcGccacattggcaacgacattg	9	7	9	16	3	0	0	0	0	0	0	2	2	2	1	5	2	3	2	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65413705G>A	ENST00000394224.3	+	7	1573	c.1277G>A	c.(1276-1278)cGc>cAc	p.R426H	SIPA1_ENST00000534313.1_Missense_Mutation_p.R426H|SIPA1_ENST00000527525.1_Missense_Mutation_p.R426H|SIPA1_ENST00000394227.3_Missense_Mutation_p.R426H	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	426	Rap-GAP.				cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTCCGGAAGCGCCACATTGGC	0.587													A	65413705	G	A	65413705	3	1	364	1	0	0	0	0	1	0	0	0	14422	1087	38	1	1299	1	SIPA1	11	65413705	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4683	65413705	69592811	8787	32289											
RELA	5970	broad.mit.edu	37	chr11	65429251	65429251	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggtgaggccggtgaggaGggtccttggtgaccagggag	6	6	23	6	1	0	3	0	3	0	0	1	5	1	5	3	8	0	0	3	8	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429251G>T	ENST00000525693.1	-	4	304	c.242C>A	c.(241-243)cCt>cAt	p.P81H	RELA_ENST00000406246.3_Missense_Mutation_p.P81H|RELA_ENST00000308639.9_Missense_Mutation_p.P81H			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	81	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						CCGGTGAGGAGGGTCCTTGGT	0.592													T	65429251	G	T	65429251	3	4	364	1	0	0	0	0	1	0	0	0	13304	1000	35	4	1445	4	RELA	11	65429251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15546	65429251	69577265	8788	32290											
RELA	5970	broad.mit.edu	37	chr11	65429438	65429438	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggtcttggtggtatcTgtgctcctctcgcctgggat	2	14	16	9	1	3	0	0	0	3	0	5	1	4	1	2	5	1	2	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65429438T>C	ENST00000525693.1	-	3	218	c.156A>G	c.(154-156)acA>acG	p.T52T	RELA_ENST00000406246.3_Silent_p.T52T|RELA_ENST00000308639.9_Silent_p.T52T			Q04206	TF65_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog A	52	RHD.				anti-apoptosis|cellular defense response|cytokine-mediated signaling pathway|defense response to virus|inflammatory response|innate immune response|interspecies interaction between organisms|membrane protein intracellular domain proteolysis|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of inflammatory response|response to interleukin-1|response to UV-B|T cell receptor signaling pathway|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|transcription factor complex	activating transcription factor binding|chromatin binding|identical protein binding|NF-kappaB binding|phosphate binding|protein kinase binding|protein N-terminus binding|repressing transcription factor binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(11)|ovary(1)|urinary_tract(1)	19						TGGTGGTATCTGTGCTCCTCT	0.637													C	65429438	T	C	65429438	2	2	364	1	0	0	0	0	0	0	0	1	13304	1567	55	3		3	RELA	11	65429438	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	187	65429438	69577078	8789	32291											
KAT5	10524	broad.mit.edu	37	chr11	65481966	65481966	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttccactggccctgggcagGactcccaggacagctctgat	7	9	11	14	0	1	1	0	1	1	0	3	3	3	3	3	4	1	2	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65481966G>T	ENST00000341318.4	+	7	925	c.691G>T	c.(691-693)Gac>Tac	p.D231Y	KAT5_ENST00000534650.1_5'UTR|KAT5_ENST00000530446.1_Splice_Site_p.D179Y|KAT5_ENST00000377046.3_Splice_Site_p.D198Y|KAT5_ENST00000352980.4_Splice_Site_p.D146Y	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	198					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						CCCTGGGCAGGACTCCCAGGA	0.552													T	65481966	G	T	65481966	5	4	364	1	0	0	0	0	0	0	1	0	8041	1188	41	4	717	4	KAT5	11	65481966	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52528	65481966	69524550	8790	32292											
MUS81	80198	broad.mit.edu	37	chr11	65632736	65632736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcagctgatgcaggtgCgcggagtgagtggggagaag	8	5	20	8	3	0	3	0	2	0	1	0	5	0	4	1	5	3	3	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65632736C>T	ENST00000308110.4	+	14	1796	c.1447C>T	c.(1447-1449)Cgc>Tgc	p.R483C	MUS81_ENST00000533035.1_Missense_Mutation_p.R408C	NM_025128.4	NP_079404.3	Q96NY9	MUS81_HUMAN	MUS81 structure-specific endonuclease subunit	483					DNA recombination|DNA repair	nucleolus	3'-flap endonuclease activity|DNA binding|metal ion binding|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	13				READ - Rectum adenocarcinoma(159;0.166)		GATGCAGGTGCGCGGAGTGAG	0.647								Homologous recombination					T	65632736	C	T	65632736	3	4	364	1	0	0	0	0	1	0	0	0	10064	768	27	1	1501	1	MUS81	11	65632736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150770	65632736	69373780	8791	32293											
CTSW	1521	broad.mit.edu	37	chr11	65650948	65650948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacaggcctcttcccacCttcccgcccctatgtcccct	6	9	5	21	1	1	1	0	0	1	1	4	1	4	1	8	1	1	0	8	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65650948C>A	ENST00000528419.1	+	9	1077	c.1073C>A	c.(1072-1074)cCt>cAt	p.P358H	CTSW_ENST00000307886.3_Intron			P56202	CATW_HUMAN	cathepsin W	0					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CTCTTCCCACCTTCCCGCCCC	0.602													A	65650948	C	A	65650948	3	1	364	1	0	0	0	0	1	0	0	0	4075	696	24	4		4	CTSW	11	65650948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18212	65650948	69355568	8792	32294											
SART1	9092	broad.mit.edu	37	chr11	65733943	65733943	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgggagctggaggagatCcgggccaagctgcggctgca	8	4	19	10	3	0	1	0	0	0	1	1	5	1	3	2	5	5	4	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65733943C>A	ENST00000312397.5	+	9	1196	c.1104C>A	c.(1102-1104)atC>atA	p.I368I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	368					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TGGAGGAGATCCGGGCCAAGC	0.672													A	65733943	C	A	65733943	2	1	364	1	0	0	0	0	0	0	0	1	13938	845	30	4		4	SART1	11	65733943	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82995	65733943	69272573	8793	32295											
SART1	9092	broad.mit.edu	37	chr11	65734851	65734851	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggatggggactttggttCcaggtgggcttggacacggt	6	11	17	7	1	1	0	1	0	0	0	2	3	2	3	1	8	0	2	1	8	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65734851C>A	ENST00000312397.5	+	10	1402	c.1310C>A	c.(1309-1311)tCc>tAc	p.S437Y		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	437					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GACTTTGGTTCCAGGTGGGCT	0.632													A	65734851	C	A	65734851	3	1	364	1	0	0	0	0	1	0	0	0	13938	855	30	4	1348	4	SART1	11	65734851	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	908	65734851	69271665	8794	32296											
SART1	9092	broad.mit.edu	37	chr11	65745328	65745328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacaaacccgacgttaagatCgaatacgtggatgagacggg	14	7	12	8	5	0	2	0	1	0	2	1	6	0	3	1	2	3	1	1	2	5	3	rs149311843		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65745328C>T	ENST00000312397.5	+	17	2222	c.2130C>T	c.(2128-2130)atC>atT	p.I710I		NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	710					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						ACGTTAAGATCGAATACGTGG	0.612													T	65745328	C	T	65745328	2	4	364	1	0	0	0	0	0	0	0	1	13938	874	31	1		1	SART1	11	65745328	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10477	65745328	69261188	8795	32297											
EIF1AD	84285	broad.mit.edu	37	chr11	65766122	65766122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactctcatgatactgtctgCggtttgtgttaacaaacagg	10	13	9	9	1	2	1	1	1	2	0	3	1	2	1	0	2	4	2	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65766122C>T	ENST00000312234.2	-	6	780	c.446G>A	c.(445-447)cGc>cAc	p.R149H	EIF1AD_ENST00000525767.1_Missense_Mutation_p.R97H|EIF1AD_ENST00000529964.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000527249.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000526451.1_Missense_Mutation_p.R149H|EIF1AD_ENST00000533544.1_Missense_Mutation_p.R149H	NM_001242481.1|NM_001242482.1|NM_001242483.1|NM_032325.3	NP_001229410.1|NP_001229411.1|NP_001229412.1|NP_115701.2	Q8N9N8	EIF1A_HUMAN	eukaryotic translation initiation factor 1A domain containing	149						nucleus	translation initiation factor activity			lung(5)	5						ATACTGTCTGCGGTTTGTGTT	0.532													T	65766122	C	T	65766122	3	4	364	1	0	0	0	0	1	0	0	0	5030	768	27	1	55	1	EIF1AD	11	65766122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20794	65766122	69240394	8796	32298											
CATSPER1	117144	broad.mit.edu	37	chr11	65787651	65787651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgagtcttccagcagcttCtcttggatccgggcggccct	5	11	12	13	2	2	1	0	1	2	0	5	2	4	2	3	3	2	2	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65787651C>A	ENST00000312106.5	-	9	2222	c.2085G>T	c.(2083-2085)gaG>gaT	p.E695D		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	695					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						CCAGCAGCTTCTCTTGGATCC	0.667													A	65787651	C	A	65787651	3	1	364	1	0	0	0	0	1	0	0	0	2713	912	32	4	273	4	CATSPER1	11	65787651	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21529	65787651	69218865	8797	32299											
CATSPER1	117144	broad.mit.edu	37	chr11	65788617	65788617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgatggacggcaaggactgGcccagggtccctgtcacttc	7	7	14	13	2	1	0	1	0	0	0	3	3	2	2	2	5	0	1	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65788617G>A	ENST00000312106.5	-	5	1868	c.1731C>T	c.(1729-1731)ggC>ggT	p.G577G		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	577					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAGGACTGGCCCAGGGTCC	0.647													A	65788617	G	A	65788617	2	1	364	1	0	0	0	0	0	0	0	1	2713	1190	42	2		2	CATSPER1	11	65788617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	966	65788617	69217899	8798	32300											
CATSPER1	117144	broad.mit.edu	37	chr11	65793574	65793574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccagaccaaagcctgtggGgccatgggctctgccgtgat	8	7	14	12	1	1	2	0	1	1	1	1	2	1	2	5	3	3	1	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:65793574G>A	ENST00000312106.5	-	1	414	c.277C>T	c.(277-279)Ccc>Tcc	p.P93S		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	93	His-rich.				cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AAGCCTGTGGGGCCATGGGCT	0.617													A	65793574	G	A	65793574	3	1	364	1	0	0	0	0	1	0	0	0	2713	1232	43	2	2113	2	CATSPER1	11	65793574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4957	65793574	69212942	8799	32301											
RAB1B	81876	broad.mit.edu	37	chr11	66039663	66039663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagctacatcagcaccatCggggtggacttcaagatccg	11	7	12	11	2	2	2	2	0	0	2	4	4	3	3	2	3	3	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66039663C>T	ENST00000311481.6	+	3	270	c.123C>T	c.(121-123)atC>atT	p.I41I	RP11-867G23.3_ENST00000501708.1_lincRNA|RAB1B_ENST00000527397.1_Silent_p.I41I	NM_030981.2	NP_112243.1	Q9H0U4	RAB1B_HUMAN	RAB1B, member RAS oncogene family	41					protein transport|small GTPase mediated signal transduction	Golgi apparatus|membrane	GTP binding|protein binding			large_intestine(2)|lung(1)|ovary(1)|prostate(1)	5						TCAGCACCATCGGGGTGGACT	0.502													T	66039663	C	T	66039663	2	4	364	1	0	0	0	0	0	0	0	1	12994	874	31	1		1	RAB1B	11	66039663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246089	66039663	68966853	8800	32302											
YIF1A	10897	broad.mit.edu	37	chr11	66052906	66052906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaggtgctcaggtcactgCgcacggtggccaggtagagg	9	6	17	9	2	2	1	2	0	0	1	2	2	2	1	1	6	2	3	1	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66052906C>T	ENST00000376901.4	-	6	771	c.587G>A	c.(586-588)cGc>cAc	p.R196H	YIF1A_ENST00000359461.6_Intron|YIF1A_ENST00000471387.2_Missense_Mutation_p.R53H|YIF1A_ENST00000526497.1_5'UTR	NM_020470.2	NP_065203.2	O95070	YIF1A_HUMAN	Yip1 interacting factor homolog A (S. cerevisiae)	196					protein transport|vesicle-mediated transport	centrosome|endoplasmic reticulum membrane|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	9						CAGGTCACTGCGCACGGTGGC	0.647													T	66052906	C	T	66052906	3	4	364	1	0	0	0	0	1	0	0	0	17577	768	27	1	306	1	YIF1A	11	66052906	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13243	66052906	68953610	8801	32303											
RIN1	9610	broad.mit.edu	37	chr11	66102523	66102523	+	Silent	SNP	C	C	G																															gggctggaggtctctgtggaCacgcgcactttgaagcttct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102523C>G	ENST00000311320.4	-	6	873	c.747G>C	c.(745-747)gtG>gtC	p.V249V	RIN1_ENST00000424433.2_Silent_p.V144V|RIN1_ENST00000530056.1_Silent_p.V144V|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	249					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						TCTCTGTGGACACGCGCACTT	0.672													G	66102523	C	G	66102523	2	3	364	1	0	0	0	0	0	0	0	1	13462	465	17	4		4	RIN1	11	66102523	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49617	66102523	68903993	8802	32304	82	2									
RIN1	9610	broad.mit.edu	37	chr11	66102528	66102528	+	Missense_Mutation	SNP	G	G	A																															ggaggtctctgtggacacgcGcactttgaagcttctcttga																								rs141887009		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66102528G>A	ENST00000311320.4	-	6	868	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	RIN1_ENST00000424433.2_Missense_Mutation_p.R143C|RIN1_ENST00000530056.1_Missense_Mutation_p.R143C|RP11-867G23.12_ENST00000526655.1_RNA	NM_004292.2	NP_004283.2	Q13671	RIN1_HUMAN	Ras and Rab interactor 1	248					endocytosis|signal transduction	cytoplasm|cytoskeleton|plasma membrane	GTPase activator activity|protein binding			breast(1)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(1)	14						GTGGACACGCGCACTTTGAAG	0.667													A	66102528	G	A	66102528	3	1	364	1	0	0	0	0	1	0	0	0	13462	1087	38	1	1629	1	RIN1	11	66102528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5	66102528	68903988	8803	32305	82	2									
SLC29A2	3177	broad.mit.edu	37	chr11	66136899	66136899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggcagctgggacagcagCgtcacccaattgttgaagtt	10	8	14	9	1	1	1	1	1	0	0	1	2	1	2	1	3	3	5	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66136899C>T	ENST00000357440.2	-	3	444	c.216G>A	c.(214-216)acG>acA	p.T72T	SLC29A2_ENST00000311161.7_Silent_p.T72T|SLC29A2_ENST00000546034.1_Silent_p.T72T|SLC29A2_ENST00000544554.1_Silent_p.T72T	NM_001532.2	NP_001523.2	Q14542	S29A2_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 2	72					cell proliferation|nucleobase, nucleoside and nucleotide metabolic process	basolateral plasma membrane|integral to plasma membrane|nuclear membrane|nucleolus	nucleoside transmembrane transporter activity			breast(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10						GGGACAGCAGCGTCACCCAAT	0.647													T	66136899	C	T	66136899	2	4	364	1	0	0	0	0	0	0	0	1	14629	755	27	1		1	SLC29A2	11	66136899	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34371	66136899	68869617	8804	32306											
MRPL11	65003	broad.mit.edu	37	chr11	66204828	66204828	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctggccctcacctgtttgCcgggcccccttttcaatccc	3	11	7	20	1	2	0	2	0	0	0	3	0	3	0	7	2	1	1	7	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66204828C>A	ENST00000310999.7	-	3	399	c.306G>T	c.(304-306)cgG>cgT	p.R102R	MRPL11_ENST00000430466.2_Silent_p.R76R|MRPL11_ENST00000524576.1_5'UTR|MRPL11_ENST00000329819.4_Silent_p.R102R	NM_016050.3	NP_057134.1	Q9Y3B7	RM11_HUMAN	mitochondrial ribosomal protein L11	102					translation		structural constituent of ribosome			endometrium(3)|lung(2)|ovary(1)|prostate(1)	7						CACCTGTTTGCCGGGCCCCCT	0.507													A	66204828	C	A	66204828	2	1	364	1	0	0	0	0	0	0	0	1	9852	726	26	4		4	MRPL11	11	66204828	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67929	66204828	68801688	8805	32307											
PELI3	246330	broad.mit.edu	37	chr11	66235654	66235654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaacctcagacctccagCaccgggggaacaagggctct	10	4	11	16	2	2	1	1	0	1	1	3	3	3	2	5	3	3	2	5	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66235654C>T	ENST00000349459.6	+	2	339	c.55C>T	c.(55-57)Cac>Tac	p.H19Y	PELI3_ENST00000524466.1_Missense_Mutation_p.H19Y|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Missense_Mutation_p.H19Y	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	19						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						AGACCTCCAGCACCGGGGGAA	0.597													T	66235654	C	T	66235654	3	4	364	1	0	0	0	0	1	0	0	0	11799	710	25	2	57	2	PELI3	11	66235654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30826	66235654	68770862	8806	32308											
PELI3	246330	broad.mit.edu	37	chr11	66241285	66241285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcctggtgatgcacccGgcaggcggcttctccgagga	6	7	16	12	3	1	1	0	1	1	0	3	4	2	3	3	6	1	3	3	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66241285G>A	ENST00000349459.6	+	6	941	c.657G>A	c.(655-657)ccG>ccA	p.P219P	PELI3_ENST00000524466.1_Silent_p.P243P|PELI3_ENST00000531856.1_Intron|PELI3_ENST00000320740.7_Silent_p.P243P|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	243						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						TGATGCACCCGGCAGGCGGCT	0.637													A	66241285	G	A	66241285	2	1	364	1	0	0	0	0	0	0	0	1	11799	1103	39	1		1	PELI3	11	66241285	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5631	66241285	68765231	8807	32309											
DPP3	10072	broad.mit.edu	37	chr11	66260231	66260231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgccaagtttgagCggctggtggcgagcgcagag	8	7	17	9	3	0	3	0	2	0	1	0	4	0	3	2	3	3	3	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260231C>T	ENST00000532677.1	+	10	1491	c.1090C>T	c.(1090-1092)Cgg>Tgg	p.R364W	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.R345W|DPP3_ENST00000531863.1_Missense_Mutation_p.R365W|DPP3_ENST00000453114.1_Missense_Mutation_p.R345W|DPP3_ENST00000541961.1_Missense_Mutation_p.R345W|DPP3_ENST00000530165.1_Missense_Mutation_p.R315W	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	345					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CAAGTTTGAGCGGCTGGTGGC	0.607													T	66260231	C	T	66260231	3	4	364	1	0	0	0	0	1	0	0	0	4767	759	27	1	1067	1	DPP3	11	66260231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18946	66260231	68746285	8808	32310											
DPP3	10072	broad.mit.edu	37	chr11	66260289	66260289	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctggcccccaacctttgAgaaggacaagttcctcaccc	9	7	8	17	0	1	1	1	1	0	1	2	3	2	2	6	2	1	1	6	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66260289A>C	ENST00000532677.1	+	10	1549	c.1148A>C	c.(1147-1149)gAg>gCg	p.E383A	DPP3_ENST00000533799.1_3'UTR|DPP3_ENST00000360510.2_Missense_Mutation_p.E364A|DPP3_ENST00000531863.1_Missense_Mutation_p.E384A|DPP3_ENST00000453114.1_Missense_Mutation_p.E364A|DPP3_ENST00000541961.1_Missense_Mutation_p.E364A|DPP3_ENST00000530165.1_Missense_Mutation_p.E334A	NM_001256670.1|NM_005700.4|NM_130443.3	NP_001243599.1|NP_005691.2|NP_569710.2	Q9NY33	DPP3_HUMAN	dipeptidyl-peptidase 3	364					proteolysis	cytoplasm	aminopeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)	23						CCAACCTTTGAGAAGGACAAG	0.592													C	66260289	A	C	66260289	3	2	364	1	0	0	0	0	1	0	0	0	4767	304	11	5	1125	5	DPP3	11	66260289	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58	66260289	68746227	8809	32311											
ACTN3	89	broad.mit.edu	37	chr11	66327541	66327541	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccagaagaggcgggatgcGctagaggtggggctgggggc	8	4	21	8	2	0	3	0	0	0	3	0	4	0	4	1	7	1	2	1	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66327541G>A	ENST00000504911.1	-	0	220				ACTN3_ENST00000513398.1_RNA|ACTN3_ENST00000502692.1_RNA																							GGCGGGATGCGCTAGAGGTGG	0.667													A	66327541	G	A	66327541	1	1	364	0	1	0	0	0	0	0	0	0	206	1074	38	1		1	ACTN3	11	66327541	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67252	66327541	68678975	8810	32312											
CCDC87	55231	broad.mit.edu	37	chr11	66359608	66359608	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggggaagccctgctggtGggggccacaggatagctggg	7	5	21	8	0	0	0	0	0	0	0	0	3	0	2	2	7	3	2	2	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66359608G>T	ENST00000333861.3	-	1	946	c.879C>A	c.(877-879)ccC>ccA	p.P293P		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	293										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CCCTGCTGGTGGGGGCCACAG	0.607													T	66359608	G	T	66359608	2	4	364	1	0	0	0	0	0	0	0	1	2890	1335	47	4		4	CCDC87	11	66359608	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32067	66359608	68646908	8811	32313											
SPTBN2	6712	broad.mit.edu	37	chr11	66466163	66466163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccagctcggccatgaatgCctggtgcttctgccacttag	7	10	11	13	1	1	1	0	1	1	0	2	1	1	1	4	2	5	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66466163C>T	ENST00000533211.1	-	20	4292	c.3961G>A	c.(3961-3963)Gca>Aca	p.A1321T	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1321T|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1321T			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1321					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GCCATGAATGCCTGGTGCTTC	0.597													T	66466163	C	T	66466163	3	4	364	1	0	0	0	0	1	0	0	0	15216	739	26	2	3287	2	SPTBN2	11	66466163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106555	66466163	68540353	8812	32314											
SPTBN2	6712	broad.mit.edu	37	chr11	66472098	66472098	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgacctccaggtcctccagGcgttcaggcagggccagccc	7	5	12	17	2	1	0	1	0	0	0	4	1	4	0	6	4	1	2	6	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66472098G>A	ENST00000533211.1	-	15	2980	c.2649C>T	c.(2647-2649)cgC>cgT	p.R883R	SPTBN2_ENST00000309996.2_Silent_p.R883R|SPTBN2_ENST00000529997.1_Silent_p.R883R			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	883					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						GGTCCTCCAGGCGTTCAGGCA	0.687													A	66472098	G	A	66472098	2	1	364	1	0	0	0	0	0	0	0	1	15216	1190	42	2		2	SPTBN2	11	66472098	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5935	66472098	68534418	8813	32315											
RCE1	9986	broad.mit.edu	37	chr11	66612667	66612667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatattattgagcagctgcGtttccgccagagcagcgtgg	8	10	12	11	3	0	2	0	1	0	1	1	2	1	2	3	1	5	4	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66612667G>A	ENST00000309657.3	+	6	694	c.650G>A	c.(649-651)cGt>cAt	p.R217H	RCE1_ENST00000525356.1_Missense_Mutation_p.R94H|RCE1_ENST00000524506.1_Missense_Mutation_p.R217H	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	217					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GAGCAGCTGCGTTTCCGCCAG	0.537													A	66612667	G	A	66612667	3	1	364	1	0	0	0	0	1	0	0	0	13264	1145	40	1	672	1	RCE1	11	66612667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140569	66612667	68393849	8814	32316											
LRFN4	78999	broad.mit.edu	37	chr11	66625589	66625589	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtcaatctgcagcaccTcatcctcagcggcaaccagc	9	6	7	19	2	4	0	3	0	1	0	5	0	5	0	5	1	5	3	5	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625589T>C	ENST00000309602.4	+	1	617	c.374T>C	c.(373-375)cTc>cCc	p.L125P	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.L125P|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	125						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CTGCAGCACCTCATCCTCAGC	0.662													C	66625589	T	C	66625589	3	2	364	1	0	0	0	0	1	0	0	0	9010	1551	54	3	376	3	LRFN4	11	66625589	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12922	66625589	68380927	8815	32317											
LRFN4	78999	broad.mit.edu	37	chr11	66625615	66625615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcggcaaccagctgggcCgcatcgcgccgggagccttc	6	5	14	16	5	1	0	1	0	0	0	3	1	1	1	4	3	4	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625615C>T	ENST00000309602.4	+	1	643	c.400C>T	c.(400-402)Cgc>Tgc	p.R134C	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Missense_Mutation_p.R134C|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	134						integral to membrane				breast(1)|lung(1)|prostate(1)	3						CCAGCTGGGCCGCATCGCGCC	0.687													T	66625615	C	T	66625615	3	4	364	1	0	0	0	0	1	0	0	0	9010	652	23	1	402	1	LRFN4	11	66625615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26	66625615	68380901	8816	32318											
LRFN4	78999	broad.mit.edu	37	chr11	66625626	66625626	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggccgcatcgcgccGggagccttcgacgacttcct	5	7	13	16	6	0	0	0	0	0	0	3	3	1	1	4	2	2	2	4	2	0	2	rs138102608		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66625626G>T	ENST00000309602.4	+	1	654	c.411G>T	c.(409-411)ccG>ccT	p.P137P	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Silent_p.P137P|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	137						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCATCGCGCCGGGAGCCTTCG	0.692													T	66625626	G	T	66625626	2	4	364	1	0	0	0	0	0	0	0	1	9010	1103	39	4		4	LRFN4	11	66625626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	66625626	68380890	8817	32319											
LRFN4	78999	broad.mit.edu	37	chr11	66626355	66626355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggaacagcagtgccgaGgggggccgccccgggccctc	5	3	19	14	3	0	0	0	0	0	0	1	2	0	1	5	6	3	1	5	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626355G>T	ENST00000309602.4	+	1	1383	c.1140G>T	c.(1138-1140)gaG>gaT	p.E380D	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	380						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGTGCCGAGGGGGGCCGCC	0.711													T	66626355	G	T	66626355	3	4	364	1	0	0	0	0	1	0	0	0	9010	991	35	4	1142	4	LRFN4	11	66626355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	729	66626355	68380161	8818	32320											
LRFN4	78999	broad.mit.edu	37	chr11	66626433	66626433	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggacgctggagtctgaGccagccgtgcaggtgacgga	8	5	19	9	3	1	2	0	2	1	0	1	6	1	5	2	5	3	2	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:66626433G>T	ENST00000309602.4	+	1	1461	c.1218G>T	c.(1216-1218)gaG>gaT	p.E406D	PC_ENST00000393960.1_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron|PC_ENST00000393958.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	406						integral to membrane				breast(1)|lung(1)|prostate(1)	3						TGGAGTCTGAGCCAGCCGTGC	0.701													T	66626433	G	T	66626433	3	4	364	1	0	0	0	0	1	0	0	0	9010	962	34	4	1220	4	LRFN4	11	66626433	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78	66626433	68380083	8819	32321											
KDM2A	22992	broad.mit.edu	37	chr11	67018104	67018104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggaggaggaagatgAcagtgcagaggaggggggtg	12	3	24	2	0	0	3	0	1	0	2	0	9	0	9	0	9	1	1	0	9	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67018104A>G	ENST00000529006.2	+	17	3049	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	KDM2A_ENST00000308783.5_Missense_Mutation_p.D326G|KDM2A_ENST00000398645.2_Intron|KDM2A_ENST00000530342.1_Missense_Mutation_p.D429G|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	868					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						gaggaagaTGACAGTGCAGAG	0.652													G	67018104	A	G	67018104	3	3	364	1	0	0	0	0	1	0	0	0	8182	275	10	3	2665	3	KDM2A	11	67018104	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	391671	67018104	67988412	8820	32322											
ADRBK1	156	broad.mit.edu	37	chr11	67047315	67047315	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttcctcccttagccataCatcgaagagatttgtcaaaa	13	11	6	11	1	1	1	1	0	0	1	4	3	3	1	3	0	3	1	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67047315C>T	ENST00000308595.5	+	6	737	c.447C>T	c.(445-447)taC>taT	p.Y149Y	ADRBK1_ENST00000526285.1_Silent_p.Y149Y	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	149	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CTTAGCCATACATCGAAGAGA	0.592													T	67047315	C	T	67047315	2	4	364	1	0	0	0	0	0	0	0	1	343	489	17	2		2	ADRBK1	11	67047315	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29211	67047315	67959201	8821	32323											
ADRBK1	156	broad.mit.edu	37	chr11	67049162	67049162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcatacgcgttccacacGccagacaagctcagcttcat	11	9	7	14	3	3	1	3	0	0	1	4	1	4	1	2	0	3	3	2	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049162G>A	ENST00000308595.5	+	10	1079	c.789G>A	c.(787-789)acG>acA	p.T263T	ADRBK1_ENST00000526285.1_Silent_p.T263T	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	263	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CGTTCCACACGCCAGACAAGC	0.657													A	67049162	G	A	67049162	2	1	364	1	0	0	0	0	0	0	0	1	343	1074	38	1		1	ADRBK1	11	67049162	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1847	67049162	67957354	8822	32324											
ADRBK1	156	broad.mit.edu	37	chr11	67049350	67049350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcagaggctgacatgcGcttctatgcggccgagatca	8	10	11	12	3	3	3	2	1	2	2	4	4	3	3	1	2	2	2	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67049350G>A	ENST00000308595.5	+	11	1174	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R295H|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	295	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCTGACATGCGCTTCTATGCG	0.642													A	67049350	G	A	67049350	3	1	364	1	0	0	0	0	1	0	0	0	343	1087	38	1	926	1	ADRBK1	11	67049350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	188	67049350	67957166	8823	32325											
ANKRD13D	338692	broad.mit.edu	37	chr11	67068588	67068588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgcgacttcatcactctgCgccttccacctggcttcccc	4	11	7	19	3	3	0	2	0	1	0	5	1	5	0	5	1	2	1	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67068588C>T	ENST00000447274.2	+	11	2115	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	ANKRD13D_ENST00000308440.6_Missense_Mutation_p.R314C|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.R401C|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.R314C|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.R51C			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	314										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CATCACTCTGCGCCTTCCACC	0.622													T	67068588	C	T	67068588	3	4	364	1	0	0	0	0	1	0	0	0	644	768	27	1	1243	1	ANKRD13D	11	67068588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19238	67068588	67937928	8824	32326											
SSH3	54961	broad.mit.edu	37	chr11	67074909	67074910	+	Splice_Site	INS	-	-	A																															ctccatccagaccatgtggtINSaaggacagagactgcctgga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67074909_67074910insA	ENST00000308127.4	+	6	780		c.e6+2		SSH3_ENST00000376757.5_Splice_Site|SSH3_ENST00000308298.7_Splice_Site|SSH3_ENST00000532181.1_Splice_Site	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3						regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GACCATGTGGTAAGGACAGAGA	0.619													A	67074910	-	A	67074909	8	5	364	1	0	1	1	0	0	0	1	0	15282	1652	57	0	626	0	SSH3	11	67074909	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	6321	67074909	67931607	8825	32327											
CLCF1	23529	broad.mit.edu	37	chr11	67132614	67132614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaaggtcagaagtcagaagCcatgagcccccaggtgcagg	13	4	14	10	0	2	4	2	1	0	3	2	4	2	4	3	3	3	1	3	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67132614C>T	ENST00000312438.7	-	3	868	c.671G>A	c.(670-672)gGc>gAc	p.G224D	AP003419.11_ENST00000543494.1_RNA|CLCF1_ENST00000533438.1_Missense_Mutation_p.G214D|CLCF1_ENST00000528474.1_Missense_Mutation_p.G214D	NM_013246.2	NP_037378.1	Q9UBD9	CLCF1_HUMAN	cardiotrophin-like cytokine factor 1	224					B cell differentiation|cytokine-mediated signaling pathway|JAK-STAT cascade|negative regulation of neuron apoptosis|positive regulation of astrocyte differentiation|positive regulation of B cell proliferation|positive regulation of immunoglobulin production|positive regulation of isotype switching to IgE isotypes|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	ciliary neurotrophic factor receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			endometrium(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;2.39e-06)			AAGTCAGAAGCCATGAGCCCC	0.597													T	67132614	C	T	67132614	3	4	364	1	0	0	0	0	1	0	0	0	3492	739	26	2	10	2	CLCF1	11	67132614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57705	67132614	67873902	8826	32328											
PPP1CA	5499	broad.mit.edu	37	chr11	67166542	67166542	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgtcagggtcagaccAcagcaggtcacacagcaggc	10	6	12	13	0	3	1	3	0	0	1	4	1	4	1	2	3	2	2	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67166542A>G	ENST00000376745.4	-	5	764	c.616T>C	c.(616-618)Tgg>Cgg	p.W206R	PPP1CA_ENST00000358239.4_Missense_Mutation_p.W162R|PPP1CA_ENST00000312989.7_Missense_Mutation_p.W217R|PPP1CA_ENST00000532446.1_5'UTR	NM_001008709.1|NM_002708.3	NP_001008709.1|NP_002699.1	P62136	PP1A_HUMAN	protein phosphatase 1, catalytic subunit, alpha isozyme	206					cell cycle|cell division|glycogen metabolic process|protein dephosphorylation|triglyceride catabolic process	cytosol|MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|protein binding|protein phosphatase type 1 regulator activity|protein serine/threonine phosphatase activity			breast(1)|lung(2)|pancreas(1)|urinary_tract(3)	7			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			GGGTCAGACCACAGCAGGTCA	0.632													G	67166542	A	G	67166542	3	3	364	1	0	0	0	0	1	0	0	0	12431	159	6	3	388	3	PPP1CA	11	67166542	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33928	67166542	67839974	8827	32329											
TBC1D10C	374403	broad.mit.edu	37	chr11	67174430	67174430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggttcctgtgcctcttcGcccgctccctgcccttcccc	1	12	8	20	2	1	0	0	0	1	0	5	0	4	0	7	1	2	2	7	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67174430G>A	ENST00000312390.5	+	8	810	c.781G>A	c.(781-783)Gcc>Acc	p.A261T	TBC1D10C_ENST00000542590.1_Missense_Mutation_p.A261T|TBC1D10C_ENST00000526387.1_Intron	NM_198517.3	NP_940919.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	261	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GTGCCTCTTCGCCCGCTCCCT	0.687													A	67174430	G	A	67174430	3	1	364	1	0	0	0	0	1	0	0	0	15697	1087	38	1	807	1	TBC1D10C	11	67174430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7888	67174430	67832086	8828	32330											
TBC1D10C	374403	broad.mit.edu	37	chr11	67176496	67176496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacactggtgcgcctggcGctgggcactgcagagcagcg	6	6	16	13	3	0	2	0	1	0	1	0	2	0	2	1	3	4	4	1	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67176496G>A	ENST00000526387.1	+	8	729	c.691G>A	c.(691-693)Gct>Act	p.A231T	TBC1D10C_ENST00000542590.1_Silent_p.A295A|TBC1D10C_ENST00000312390.5_Silent_p.A295A	NM_001256508.1	NP_001243437.1	Q8IV04	TB10C_HUMAN	TBC1 domain family, member 10C	31	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	16			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			TGCGCCTGGCGCTGGGCACTG	0.692													A	67176496	G	A	67176496	3	1	364	1	0	0	0	0	1	0	0	0	15697	1074	38	1	915	1	TBC1D10C	11	67176496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2066	67176496	67830020	8829	32331											
RPS6KB2	6199	broad.mit.edu	37	chr11	67198887	67198887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcacacacacgggctgagCggaacattctagagtcagtg	12	6	12	11	2	2	2	1	1	1	1	2	3	2	3	0	2	3	2	0	2	2	2	rs113335412		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67198887C>T	ENST00000312629.5	+	5	403	c.358C>T	c.(358-360)Cgg>Tgg	p.R120W	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_Intron|RPS6KB2_ENST00000539188.1_Missense_Mutation_p.R120W	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	120	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ACGGGCTGAGCGGAACATTCT	0.527													T	67198887	C	T	67198887	3	4	364	1	0	0	0	0	1	0	0	0	13748	759	27	1	376	1	RPS6KB2	11	67198887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22391	67198887	67807629	8830	32332											
RPS6KB2	6199	broad.mit.edu	37	chr11	67200096	67200096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcttcacgcatctggaGcgagagggcatcttcctgga	8	9	13	11	2	4	1	1	0	3	1	5	5	5	3	1	3	2	3	1	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67200096G>T	ENST00000312629.5	+	6	528	c.483G>T	c.(481-483)gaG>gaT	p.E161D	AP003419.16_ENST00000535922.1_RNA|RPS6KB2_ENST00000524814.1_3'UTR|RPS6KB2_ENST00000539188.1_3'UTR	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	161	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CGCATCTGGAGCGAGAGGGCA	0.567													T	67200096	G	T	67200096	3	4	364	1	0	0	0	0	1	0	0	0	13748	962	34	4	505	4	RPS6KB2	11	67200096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1209	67200096	67806420	8831	32333											
PTPRCAP	5790	broad.mit.edu	37	chr11	67203585	67203585	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggggctggcccagagcagGcgccgcgtgcggccccacag	5	2	19	15	4	0	1	0	0	0	1	0	1	0	1	4	6	2	2	4	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67203585G>T	ENST00000326294.3	-	2	687	c.240C>A	c.(238-240)cgC>cgA	p.R80R		NM_005608.2	NP_005599.1	Q14761	PTCA_HUMAN	protein tyrosine phosphatase, receptor type, C-associated protein	80					defense response	integral to membrane|plasma membrane				skin(1)|upper_aerodigestive_tract(1)	2			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CCCAGAGCAGGCGCCGCGTGC	0.711													T	67203585	G	T	67203585	2	4	364	1	0	0	0	0	0	0	0	1	12886	1190	42	4		4	PTPRCAP	11	67203585	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3489	67203585	67802931	8832	32334											
AIP	9049	broad.mit.edu	37	chr11	67254613	67254613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgggagaccatcgtgtgcaCcatgcgagaaggggagattg	10	7	17	7	2	0	3	0	0	0	3	1	6	0	3	2	3	2	1	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67254613C>T	ENST00000279146.3	+	2	354	c.236C>T	c.(235-237)aCc>aTc	p.T79I		NM_003977.2	NP_003968.2	O00170	AIP_HUMAN	aryl hydrocarbon receptor interacting protein	79	PPIase FKBP-type.				protein maturation by protein folding|protein targeting to mitochondrion	nucleus	signal transducer activity|transcription coactivator activity|transcription factor binding|unfolded protein binding			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(2)	7						ATCGTGTGCACCATGCGAGAA	0.587									Familial Isolated Pituitary Adenoma				T	67254613	C	T	67254613	3	4	364	1	0	0	0	0	1	0	0	0	435	507	18	2	242	2	AIP	11	67254613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51028	67254613	67751903	8833	32335											
PITPNM1	9600	broad.mit.edu	37	chr11	67261829	67261829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggtggttggaagtgacGttctagagggaggagagggc	8	7	20	6	2	1	3	0	1	1	2	1	6	1	5	1	6	0	2	1	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67261829G>A	ENST00000356404.3	-	19	2970	c.2745C>T	c.(2743-2745)aaC>aaT	p.N915N	PITPNM1_ENST00000436757.2_Silent_p.N914N|PITPNM1_ENST00000534749.1_Silent_p.N915N|PITPNM1_ENST00000526450.1_5'UTR	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	915					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						TGGAAGTGACGTTCTAGAGGG	0.682													A	67261829	G	A	67261829	2	1	364	1	0	0	0	0	0	0	0	1	12027	1136	40	1		1	PITPNM1	11	67261829	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7216	67261829	67744687	8834	32336											
PITPNM1	9600	broad.mit.edu	37	chr11	67267648	67267649	+	Frame_Shift_Ins	INS	-	-	G																															cgggggaggcatctgggcctINSgggggggcctcaggcccatc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267648_67267649insG	ENST00000356404.3	-	6	1109_1110	c.884_885insC	c.(883-885)ccafs	p.P295fs	PITPNM1_ENST00000534749.1_Frame_Shift_Ins_p.P295fs|PITPNM1_ENST00000436757.2_Frame_Shift_Ins_p.P295fs	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	295					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CATCTGGGCCTGGGGGGGCCTC	0.693													G	67267649	-	G	67267648	7	5	364	1	0	1	1	0	0	0	0	0	12027	1567	55	0	2925	0	PITPNM1	11	67267648	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5819	67267648	67738868	8835	32337											
PITPNM1	9600	broad.mit.edu	37	chr11	67267735	67267735	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggggggctgggcctcGgacccctcactgcctgtgtt	2	10	14	15	2	1	0	1	0	0	0	3	1	2	1	5	5	1	2	5	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67267735G>A	ENST00000356404.3	-	6	1023	c.798C>T	c.(796-798)tcC>tcT	p.S266S	PITPNM1_ENST00000436757.2_Silent_p.S266S|PITPNM1_ENST00000534749.1_Silent_p.S266S	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	266					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						GCTGGGCCTCGGACCCCTCAC	0.692													A	67267735	G	A	67267735	2	1	364	1	0	0	0	0	0	0	0	1	12027	1103	39	1		1	PITPNM1	11	67267735	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	67267735	67738781	8836	32338											
CABP2	51475	broad.mit.edu	37	chr11	67287408	67287408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccgtccccattggtgtCgaactgtggcggcgttggtt	3	11	16	11	5	0	0	0	0	0	0	2	1	1	0	3	5	1	2	3	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67287408C>T	ENST00000294288.4	-	6	562	c.493G>A	c.(493-495)Gac>Aac	p.D165N	CABP2_ENST00000353903.5_Missense_Mutation_p.D108N	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	165	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						CCATTGGTGTCGAACTGTGGC	0.692													T	67287408	C	T	67287408	3	4	364	1	0	0	0	0	1	0	0	0	2558	884	31	1	177	1	CABP2	11	67287408	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19673	67287408	67719108	8837	32339											
NDUFV1	4723	broad.mit.edu	37	chr11	67376950	67376950	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctggtggtgaacgcagaCgagggggagccgggcacctg	8	6	18	9	3	1	2	0	1	1	1	1	4	1	3	2	5	2	2	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67376950C>T	ENST00000322776.6	+	4	507	c.354C>T	c.(352-354)gaC>gaT	p.D118D	NDUFV1_ENST00000532303.1_Silent_p.D17D|NDUFV1_ENST00000415352.2_Silent_p.D111D|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Silent_p.D109D	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	118					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGAACGCAGACGAGGGGGAGC	0.657													T	67376950	C	T	67376950	2	4	364	1	0	0	0	0	0	0	0	1	10375	535	19	1		1	NDUFV1	11	67376950	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89542	67376950	67629566	8838	32340											
NDUFV1	4723	broad.mit.edu	37	chr11	67377969	67377969	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacatctgtggagaggagAcagcgctcatcgagtccatt	10	9	11	11	2	2	2	1	0	1	2	4	5	3	2	2	2	2	1	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67377969A>G	ENST00000322776.6	+	5	781	c.628A>G	c.(628-630)Aca>Gca	p.T210A	NDUFV1_ENST00000532303.1_Missense_Mutation_p.T109A|NDUFV1_ENST00000415352.2_Missense_Mutation_p.T203A|NDUFV1_ENST00000526169.1_3'UTR|NDUFV1_ENST00000529927.1_Missense_Mutation_p.T201A	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa	210					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGGAGAGGAGACAGCGCTCAT	0.602													G	67377969	A	G	67377969	3	3	364	1	0	0	0	0	1	0	0	0	10375	275	10	3	646	3	NDUFV1	11	67377969	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1019	67377969	67628547	8839	32341											
NDUFV1	4723	broad.mit.edu	37	chr11	67379590	67379590	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgtggctgtggctgcaGgtgtggactggatgaacaag	7	11	16	7	0	1	1	0	1	1	0	1	3	1	3	0	5	2	3	0	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67379590G>T	ENST00000322776.6	+	9	1315		c.e9-1		NDUFV1_ENST00000532303.1_Splice_Site|NDUFV1_ENST00000415352.2_Splice_Site|NDUFV1_ENST00000529927.1_Splice_Site	NM_001166102.1|NM_007103.3	NP_001159574.1|NP_009034.2	P49821	NDUV1_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa						mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|FMN binding|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	16					NADH(DB00157)	TGTGGCTGCAGGTGTGGACTG	0.622													T	67379590	G	T	67379590	5	4	364	1	0	0	0	0	0	0	1	0	10375	1014	35	4	1196	4	NDUFV1	11	67379590	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1621	67379590	67626926	8840	32342											
TBX10	347853	broad.mit.edu	37	chr11	67402558	67402558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgtcactctggacaCacgtgggttcttggggccct	6	11	12	12	1	3	1	1	1	2	0	3	2	3	2	1	4	1	1	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67402558C>T	ENST00000335385.3	-	2	271	c.184G>A	c.(184-186)Gtg>Atg	p.V62M		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	62					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						ACTCTGGACACACGTGGGTTC	0.622													T	67402558	C	T	67402558	3	4	364	1	0	0	0	0	1	0	0	0	15751	478	17	2	1001	2	TBX10	11	67402558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22968	67402558	67603958	8841	32343											
ALDH3B2	222	broad.mit.edu	37	chr11	67430845	67430845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgaaggtgaacttgccGtggtaccggcccatcccact	7	9	12	13	3	0	1	0	1	0	0	2	2	1	1	4	3	3	1	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67430845G>A	ENST00000349015.3	-	10	1437	c.999C>T	c.(997-999)caC>caT	p.H333H	ALDH3B2_ENST00000530069.1_Silent_p.H333H	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	333					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TGAACTTGCCGTGGTACCGGC	0.647													A	67430845	G	A	67430845	2	1	364	1	0	0	0	0	0	0	0	1	500	1136	40	1		1	ALDH3B2	11	67430845	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28287	67430845	67575671	8842	32344											
NDUFS8	4728	broad.mit.edu	37	chr11	67803831	67803831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccaggaggcctgtcccGtggatgccatcgtcgaggca	6	8	14	13	3	1	0	0	0	1	0	4	3	2	2	4	4	2	1	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67803831G>A	ENST00000313468.5	+	6	591	c.484G>A	c.(484-486)Gtg>Atg	p.V162M	NDUFS8_ENST00000528492.1_Missense_Mutation_p.V16M	NM_002496.3	NP_002487.1	O00217	NDUS8_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)	162	4Fe-4S ferredoxin-type 2.				mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity			endometrium(1)|kidney(1)|lung(5)|skin(1)	8					NADH(DB00157)	GGCCTGTCCCGTGGATGCCAT	0.667													A	67803831	G	A	67803831	3	1	364	1	0	0	0	0	1	0	0	0	10374	1145	40	1	502	1	NDUFS8	11	67803831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372986	67803831	67202685	8843	32345											
SUV420H1	51111	broad.mit.edu	37	chr11	67939085	67939085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtacatgacactgaagtCgttttctccatgtctaagta	11	13	9	8	1	2	2	0	2	2	0	4	3	2	3	1	1	1	3	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:67939085C>T	ENST00000304363.4	-	7	1098	c.745G>A	c.(745-747)Gac>Aac	p.D249N	SUV420H1_ENST00000405515.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402789.1_Missense_Mutation_p.D249N|SUV420H1_ENST00000402185.2_Missense_Mutation_p.D226N|SUV420H1_ENST00000401547.2_Missense_Mutation_p.D249N	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	249	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding	p.D249N(1)		NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						ACACTGAAGTCGTTTTCTCCA	0.413													T	67939085	C	T	67939085	3	4	364	1	0	0	0	0	1	0	0	0	15510	884	31	1	1940	1	SUV420H1	11	67939085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135254	67939085	67067431	8844	32346											
C11orf24	53838	broad.mit.edu	37	chr11	68029758	68029758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggtgtcactgggcatgtgCttggaaggacttggacgagt	7	10	17	7	2	1	0	1	0	0	0	1	4	1	3	0	5	1	2	0	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68029758C>T	ENST00000304271.6	-	4	1107	c.705G>A	c.(703-705)aaG>aaA	p.K235K	C11orf24_ENST00000533310.1_Intron	NM_022338.3	NP_071733.1	Q96F05	CK024_HUMAN	chromosome 11 open reading frame 24	235	Pro-rich.					integral to membrane				endometrium(3)|kidney(3)|large_intestine(3)|lung(3)|ovary(1)	13						TGGGCATGTGCTTGGAAGGAC	0.582													T	68029758	C	T	68029758	2	4	364	1	0	0	0	0	0	0	0	1	1647	796	28	2		2	C11orf24	11	68029758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90673	68029758	66976758	8845	32347											
LRP5	4041	broad.mit.edu	37	chr11	68133048	68133048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttttctcagtccacactcGctgtgaggaggacaatggcg	8	10	13	10	2	1	1	1	1	1	0	4	3	2	3	1	4	0	2	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68133048G>A	ENST00000294304.7	+	5	999	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	298	EGF-like 1.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTCCACACTCGCTGTGAGGAG	0.592													A	68133048	G	A	68133048	3	1	364	1	0	0	0	0	1	0	0	0	9030	1087	38	1	911	1	LRP5	11	68133048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103290	68133048	66873468	8846	32348											
LRP5	4041	broad.mit.edu	37	chr11	68157500	68157500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctctactggggagacGccaagacagacaagatcgag	14	4	14	9	2	1	4	0	0	1	4	2	7	1	5	1	3	2	1	1	3	4	1	rs80358309		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68157500G>A	ENST00000294304.7	+	7	1670	c.1564G>A	c.(1564-1566)Gcc>Acc	p.A522T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	522	Beta-propeller 2.		A -> T (in EVR4).		adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CTGGGGAGACGCCAAGACAGA	0.642													A	68157500	G	A	68157500	3	1	364	1	0	0	0	0	1	0	0	0	9030	1087	38	1	1590	1	LRP5	11	68157500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24452	68157500	66849016	8847	32349											
LRP5	4041	broad.mit.edu	37	chr11	68193472	68193472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctgaccctggaggacGccaacatcgtgcagcctctg	8	6	11	16	3	1	1	0	1	1	0	2	3	1	3	5	2	3	1	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68193472G>A	ENST00000294304.7	+	16	3560	c.3454G>A	c.(3454-3456)Gcc>Acc	p.A1152T		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1152	Beta-propeller 4.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCTGGAGGACGCCAACATCGT	0.637													A	68193472	G	A	68193472	3	1	364	1	0	0	0	0	1	0	0	0	9030	1087	38	1	3516	1	LRP5	11	68193472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35972	68193472	66813044	8848	32350											
LRP5	4041	broad.mit.edu	37	chr11	68216504	68216504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctacttccatctcttccCgccccctccgtccccctgca	4	10	5	22	2	1	0	0	0	1	0	6	1	5	0	7	0	3	2	7	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68216504C>T	ENST00000294304.7	+	23	4920	c.4814C>T	c.(4813-4815)cCg>cTg	p.P1605L	LRP5_ENST00000529481.1_3'UTR	NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1605	Pro-rich.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATCTCTTCCCGCCCCCTCCG	0.617													T	68216504	C	T	68216504	3	4	364	1	0	0	0	0	1	0	0	0	9030	652	23	1	4904	1	LRP5	11	68216504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23032	68216504	66790012	8849	32351											
GAL	51083	broad.mit.edu	37	chr11	68453074	68453074	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaaggccaaggaaaaaCgaggctggaccctgaacagc	14	4	11	12	1	1	1	1	1	0	0	1	4	1	3	3	4	3	1	3	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68453074C>T	ENST00000265643.3	+	3	352	c.94C>T	c.(94-96)Cga>Tga	p.R32*		NM_015973.3	NP_057057.2	P22466	GALA_HUMAN	galanin/GMAP prepropeptide	32					growth hormone secretion|insulin secretion|neuropeptide signaling pathway|smooth muscle contraction	extracellular region	neuropeptide hormone activity			lung(4)	4	Esophageal squamous(3;7.33e-10)	Melanoma(852;0.0749)	LUAD - Lung adenocarcinoma(13;0.0514)	Kidney(183;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.000152)|LUSC - Lung squamous cell carcinoma(976;0.00154)		CAAGGAAAAACGAGGCTGGAC	0.612													T	68453074	C	T	68453074	4	4	364	1	0	0	0	0	0	1	0	0	6250	528	19	1	100	1	GAL	11	68453074	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236570	68453074	66553442	8850	32352											
MTL5	9633	broad.mit.edu	37	chr11	68514826	68514826	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtaccacctgcttccttGatttcaacctagaaaaaagc	13	11	6	11	0	1	2	1	1	0	1	2	2	2	2	4	0	4	3	4	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68514826G>T	ENST00000443940.2	-	3	566	c.480C>A	c.(478-480)atC>atA	p.I160I	MTL5_ENST00000544963.1_Silent_p.I160I|MTL5_ENST00000540869.1_5'UTR|MTL5_ENST00000255087.5_Silent_p.I160I			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	160					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			CTGCTTCCTTGATTTCAACCT	0.393													T	68514826	G	T	68514826	2	4	364	1	0	0	0	0	0	0	0	1	10012	1280	45	4		4	MTL5	11	68514826	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61752	68514826	66491690	8851	32353											
CPT1A	1374	broad.mit.edu	37	chr11	68540734	68540734	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaggcggtcagttcttaccTtgtagtgcgccagctggagg	6	11	14	10	2	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68540734T>C	ENST00000265641.5	-	14	1893	c.1739A>G	c.(1738-1740)aAg>aGg	p.K580R	CPT1A_ENST00000540367.1_Splice_Site_p.K580R|CPT1A_ENST00000539743.1_Splice_Site_p.K580R|CPT1A_ENST00000537756.2_5'UTR|CPT1A_ENST00000376618.2_Splice_Site_p.K580R	NM_001876.3	NP_001867.2	P50416	CPT1A_HUMAN	carnitine palmitoyltransferase 1A (liver)	580					carnitine shuttle|fatty acid beta-oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(17)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	Esophageal squamous(3;3.28e-14)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.142)		L-Carnitine(DB00583)|Perhexiline(DB01074)	AGTTCTTACCTTGTAGTGCGC	0.562													C	68540734	T	C	68540734	5	2	364	1	0	0	0	0	0	0	1	0	3862	1623	56	3	646	3	CPT1A	11	68540734	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25908	68540734	66465782	8852	32354											
MRPL21	219927	broad.mit.edu	37	chr11	68660895	68660895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggcttgccaagcagcGtgaagttgtctgccccaacc	8	8	13	12	1	1	1	0	1	1	0	1	2	1	2	4	2	5	3	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68660895G>A	ENST00000567045.1	-	5	405	c.170C>T	c.(169-171)aCg>aTg	p.T57M	MRPL21_ENST00000362034.2_Missense_Mutation_p.T142M|MRPL21_ENST00000450904.2_Missense_Mutation_p.T57M			Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	142					translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	p.T142M(1)		large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAAGCAGCGTGAAGTTGTC	0.507													A	68660895	G	A	68660895	3	1	364	1	0	0	0	0	1	0	0	0	9863	1145	40	1	204	1	MRPL21	11	68660895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120161	68660895	66345621	8853	32355											
IGHMBP2	3508	broad.mit.edu	37	chr11	68705683	68705683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctgcccacggaggaggActttgaggccctggtttctg	7	10	14	10	1	2	2	0	1	2	1	2	5	2	5	2	5	1	1	2	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68705683A>G	ENST00000255078.3	+	14	2756	c.2645A>G	c.(2644-2646)gAc>gGc	p.D882G		NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	882					cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACGGAGGAGGACTTTGAGGCC	0.582													G	68705683	A	G	68705683	3	3	364	1	0	0	0	0	1	0	0	0	7649	275	10	3	2699	3	IGHMBP2	11	68705683	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44788	68705683	66300833	8854	32356											
MRGPRD	116512	broad.mit.edu	37	chr11	68747524	68747524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggtgcccacggtgggcGtctccccaccttccagctcg	4	9	11	17	3	1	0	0	0	1	0	4	0	2	0	5	3	2	1	5	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68747524G>A	ENST00000309106.3	-	1	931	c.932C>T	c.(931-933)aCg>aTg	p.T311M		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	311						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CACGGTGGGCGTCTCCCCACC	0.687													A	68747524	G	A	68747524	3	1	364	1	0	0	0	0	1	0	0	0	9839	1145	40	1	36	1	MRGPRD	11	68747524	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41841	68747524	66258992	8855	32357											
TPCN2	219931	broad.mit.edu	37	chr11	68837924	68837924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcgtattccaagaacCgggcctatgccatcttcttc	7	13	7	14	2	2	1	0	0	2	1	5	1	4	1	5	1	3	1	5	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68837924C>T	ENST00000294309.3	+	9	957	c.856C>T	c.(856-858)Cgg>Tgg	p.R286W	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Missense_Mutation_p.R286W	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	286					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			TTCCAAGAACCGGGCCTATGC	0.468													T	68837924	C	T	68837924	3	4	364	1	0	0	0	0	1	0	0	0	16497	643	23	1	890	1	TPCN2	11	68837924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90400	68837924	66168592	8856	32358											
TPCN2	219931	broad.mit.edu	37	chr11	68855400	68855400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaggctgagccagcacccGcacctgtggctgtgcaggtg	7	6	16	12	1	0	2	0	1	0	1	0	3	0	2	3	3	3	5	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:68855400G>A	ENST00000294309.3	+	25	2339	c.2238G>A	c.(2236-2238)ccG>ccA	p.P746P	TPCN2_ENST00000442692.2_3'UTR|TPCN2_ENST00000542467.1_Silent_p.P564P	NM_139075.3	NP_620714.2	Q8NHX9	TPC2_HUMAN	two pore segment channel 2	746					cellular calcium ion homeostasis|smooth muscle contraction	endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated calcium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	32			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCCAGCACCCGCACCTGTGGC	0.642													A	68855400	G	A	68855400	2	1	364	1	0	0	0	0	0	0	0	1	16497	1074	38	1		1	TPCN2	11	68855400	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17476	68855400	66151116	8857	32359											
MYEOV	26579	broad.mit.edu	37	chr11	69063719	69063719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgactgttgtgactgttgagGccctgggggggtggcgcatg	4	11	19	7	1	0	3	0	3	0	0	0	3	0	3	1	5	0	3	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69063719G>A	ENST00000535407.1	+	2	1271	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	MYEOV_ENST00000441339.2_Missense_Mutation_p.A268T|MYEOV_ENST00000308946.3_Missense_Mutation_p.A268T			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	268										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GACTGTTGAGGCCCTGGGGGG	0.672													A	69063719	G	A	69063719	3	1	364	1	0	0	0	0	1	0	0	0	10101	1203	42	2	808	2	MYEOV	11	69063719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208319	69063719	65942797	8858	32360											
CCND1	595	broad.mit.edu	37	chr11	69457922	69457922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgggggccacttgcatgTtcgtggcctctaagatgaag	7	11	14	9	1	1	2	0	1	1	1	2	2	1	2	2	3	2	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69457922T>C	ENST00000227507.2	+	2	549	c.322T>C	c.(322-324)Ttc>Ctc	p.F108L	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	108	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	CACTTGCATGTTCGTGGCCTC	0.617			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			C	69457922	T	C	69457922	3	2	364	1	0	0	0	0	1	0	0	0	2946	1725	60	3	328	3	CCND1	11	69457922	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	394203	69457922	65548594	8859	32361											
ANO1	55107	broad.mit.edu	37	chr11	69951859	69951859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatttgacttgtctgataagGattcctttttcgacagcaaa	11	15	8	7	1	1	2	0	2	1	0	3	5	2	3	1	1	1	1	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:69951859G>A	ENST00000355303.5	+	5	1017	c.712G>A	c.(712-714)Gat>Aat	p.D238N	ANO1_ENST00000530676.1_Missense_Mutation_p.D122N|ANO1_ENST00000538023.1_Missense_Mutation_p.D238N|ANO1_ENST00000398543.2_Missense_Mutation_p.D122N|ANO1_ENST00000316296.5_Missense_Mutation_p.D210N	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	238					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						GTCTGATAAGGATTCCTTTTT	0.502													A	69951859	G	A	69951859	3	1	364	1	0	0	0	0	1	0	0	0	695	1174	41	2	730	2	ANO1	11	69951859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	493937	69951859	65054657	8860	32362											
ANO1	55107	broad.mit.edu	37	chr11	70017073	70017073	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgctgctgaacaacatcatcGagatccgcctggacgccaaa	12	6	9	14	4	1	2	1	1	0	1	3	4	2	3	3	1	3	2	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70017073G>A	ENST00000355303.5	+	22	2583	c.2278G>A	c.(2278-2280)Gag>Aag	p.E760K	ANO1_ENST00000530676.1_Missense_Mutation_p.E614K|ANO1_ENST00000538023.1_Missense_Mutation_p.E760K|ANO1_ENST00000531349.1_Missense_Mutation_p.E469K|ANO1_ENST00000525494.1_3'UTR|ANO1_ENST00000398543.2_Missense_Mutation_p.E614K	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	760					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CAACATCATCGAGATCCGCCT	0.592													A	70017073	G	A	70017073	3	1	364	1	0	0	0	0	1	0	0	0	695	1059	37	1	2364	1	ANO1	11	70017073	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65214	70017073	64989443	8861	32363											
PPFIA1	8500	broad.mit.edu	37	chr11	70171029	70171029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgtggtgaagagacaagCgcagtctccagcaggcgtgt	10	6	15	10	3	1	2	0	1	1	1	2	4	1	2	2	2	2	2	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70171029C>T	ENST00000253925.7	+	4	658	c.443C>T	c.(442-444)gCg>gTg	p.A148V	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Missense_Mutation_p.A148V	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	148					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AAGAGACAAGCGCAGTCTCCA	0.493													T	70171029	C	T	70171029	3	4	364	1	0	0	0	0	1	0	0	0	12386	768	27	1	453	1	PPFIA1	11	70171029	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153956	70171029	64835487	8862	32364											
PPFIA1	8500	broad.mit.edu	37	chr11	70172385	70172385	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctaatgattcttaaagaAcagaataatcagaaaaaaac	22	8	5	6	0	2	4	1	1	1	3	2	4	2	4	0	0	3	1	0	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70172385A>G	ENST00000253925.7	+	6	839	c.624A>G	c.(622-624)gaA>gaG	p.E208E	CTA-797E19.2_ENST00000526017.1_RNA|AP000487.6_ENST00000528607.1_RNA|PPFIA1_ENST00000389547.3_Silent_p.E208E	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	208					cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			TTCTTAAAGAACAGAATAATC	0.328													G	70172385	A	G	70172385	2	3	364	1	0	0	0	0	0	0	0	1	12386	40	2	3		3	PPFIA1	11	70172385	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1356	70172385	64834131	8863	32365											
CTTN	2017	broad.mit.edu	37	chr11	70275272	70275272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcggatggccaaggagcgGcaggagcaggaagaggccag	12	1	19	9	2	0	1	0	0	0	1	0	5	0	5	2	7	3	2	2	7	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70275272G>A	ENST00000346329.3	+	13	1340	c.1032G>A	c.(1030-1032)cgG>cgA	p.R344R	CTTN_ENST00000538675.1_Silent_p.R65R|CTTN_ENST00000301843.8_Silent_p.R381R|CTTN_ENST00000376561.3_Silent_p.R344R	NM_138565.2	NP_612632.1	Q14247	SRC8_HUMAN	cortactin	381						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		CCAAGGAGCGGCAGGAGCAGG	0.627													A	70275272	G	A	70275272	2	1	364	1	0	0	0	0	0	0	0	1	4077	1190	42	2		2	CTTN	11	70275272	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102887	70275272	64731244	8864	32366											
SHANK2	22941	broad.mit.edu	37	chr11	70319000	70319000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccagcagctgtttcaaagCcctttctatgttcattctgt	7	16	7	11	0	4	0	2	0	2	0	5	0	5	0	2	0	3	4	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319000C>T	ENST00000338508.4	-	33	5526	c.5527G>A	c.(5527-5529)Gct>Act	p.A1843T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1246T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1247T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1463T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1463					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TGTTTCAAAGCCCTTTCTATG	0.502													T	70319000	C	T	70319000	3	4	364	1	0	0	0	0	1	0	0	0	14359	739	26	2	29	2	SHANK2	11	70319000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43728	70319000	64687516	8865	32367											
SHANK2	22941	broad.mit.edu	37	chr11	70319333	70319333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgggagaaggagaggCggtggcagcagacagggggg	11	1	24	5	2	0	4	0	0	0	4	0	7	0	4	0	8	2	2	0	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70319333C>T	ENST00000338508.4	-	33	5193	c.5194G>A	c.(5194-5196)Gcc>Acc	p.A1732T	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1135T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1136T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1352T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1352					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAAGGAGAGGCGGTGGCAGCA	0.602													T	70319333	C	T	70319333	3	4	364	1	0	0	0	0	1	0	0	0	14359	768	27	1	362	1	SHANK2	11	70319333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	333	70319333	64687183	8866	32368											
SHANK2	22941	broad.mit.edu	37	chr11	70331536	70331536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattcactaataacgtttGcctttgggcctgagagaatc	11	13	8	9	1	2	2	2	1	0	1	3	3	2	2	2	1	2	1	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70331536G>A	ENST00000338508.4	-	32	4864	c.4865C>T	c.(4864-4866)gCa>gTa	p.A1622V	SHANK2_ENST00000409161.1_Missense_Mutation_p.A1025V|SHANK2_ENST00000449833.2_Missense_Mutation_p.A1026V|SHANK2_ENST00000423696.2_Missense_Mutation_p.A1242V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1242					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			AATAACGTTTGCCTTTGGGCC	0.527													A	70331536	G	A	70331536	3	1	364	1	0	0	0	0	1	0	0	0	14359	1319	46	2	695	2	SHANK2	11	70331536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12203	70331536	64674980	8867	32369											
SHANK2	22941	broad.mit.edu	37	chr11	70333218	70333218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctggctcggtggctcCggggcctgggggtcgatctc	2	8	18	13	4	1	0	0	0	1	0	5	1	2	0	2	7	1	4	2	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70333218C>T	ENST00000338508.4	-	32	3182	c.3183G>A	c.(3181-3183)ccG>ccA	p.P1061P	SHANK2_ENST00000409161.1_Silent_p.P464P|SHANK2_ENST00000449833.2_Silent_p.P465P|SHANK2_ENST00000423696.2_Silent_p.P681P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	681					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TCGGTGGCTCCGGGGCCTGGG	0.692													T	70333218	C	T	70333218	2	4	364	1	0	0	0	0	0	0	0	1	14359	639	23	1		1	SHANK2	11	70333218	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1682	70333218	64673298	8868	32370											
SHANK2	22941	broad.mit.edu	37	chr11	70507832	70507832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattattgtagcccgtcatcAtcaccgcggccgctcctccg	6	10	8	17	5	3	0	3	0	0	0	5	0	5	0	5	1	1	2	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:70507832A>G	ENST00000449833.2	-	1	91	c.41T>C	c.(40-42)aTg>aCg	p.M14T	SHANK2_ENST00000409530.1_Missense_Mutation_p.M13T|SHANK2_ENST00000409161.1_Missense_Mutation_p.M13T|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000449116.2_Missense_Mutation_p.M14T|SHANK2_ENST00000357171.3_Missense_Mutation_p.M14T	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCCCGTCATCATCACCGCGGC	0.547													G	70507832	A	G	70507832	3	3	364	1	0	0	0	0	1	0	0	0	14359	217	8	3	3788	3	SHANK2	11	70507832	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	174614	70507832	64498684	8869	32371											
DHCR7	1717	broad.mit.edu	37	chr11	71152283	71152283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacataccagtctctggCgctggtggggaagaagtagc	12	7	14	8	1	1	2	0	0	1	2	2	3	1	3	1	4	3	2	1	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71152283C>T	ENST00000355527.3	-	6	892	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	DHCR7_ENST00000407721.2_Missense_Mutation_p.A206T	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	206					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding	p.A206T(2)		endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGTCTCTGGCGCTGGTGGGG	0.562									Smith-Lemli-Opitz syndrome				T	71152283	C	T	71152283	3	4	364	1	0	0	0	0	1	0	0	0	4516	768	27	1	827	1	DHCR7	11	71152283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	644451	71152283	63854233	8870	32372											
DHCR7	1717	broad.mit.edu	37	chr11	71155082	71155082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagctgggcggctttcctcGttataggtggagtcttggcc	5	12	15	9	2	1	1	0	0	1	1	3	2	2	2	2	5	1	3	2	5	2	4	rs80338853		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71155082G>A	ENST00000355527.3	-	4	554	c.278C>T	c.(277-279)aCg>aTg	p.T93M	DHCR7_ENST00000407721.2_Missense_Mutation_p.T93M	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	93			T -> M (in SLOS).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	GGCTTTCCTCGTTATAGGTGG	0.632									Smith-Lemli-Opitz syndrome				A	71155082	G	A	71155082	3	1	364	1	0	0	0	0	1	0	0	0	4516	1145	40	1	1173	1	DHCR7	11	71155082	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2799	71155082	63851434	8871	32373											
NADSYN1	55191	broad.mit.edu	37	chr11	71169509	71169509	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcattattacgagtcggAcaccctcttgcactcgtttc	8	13	8	12	3	2	0	1	0	1	0	5	3	2	2	1	2	2	2	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71169509A>G	ENST00000319023.2	+	3	370	c.182A>G	c.(181-183)gAc>gGc	p.D61G		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	61	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TACGAGTCGGACACCCTCTTG	0.572													G	71169509	A	G	71169509	3	3	364	1	0	0	0	0	1	0	0	0	10214	275	10	3	192	3	NADSYN1	11	71169509	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14427	71169509	63837007	8872	32374											
NADSYN1	55191	broad.mit.edu	37	chr11	71209551	71209551	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacacaagctggccttggCagtttcggtgcatagaaaat	13	9	10	9	1	0	1	0	0	0	1	1	1	0	1	1	3	3	4	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71209551C>T	ENST00000319023.2	+	20	2235	c.2047C>T	c.(2047-2049)Cag>Tag	p.Q683*	NADSYN1_ENST00000530055.1_Nonsense_Mutation_p.Q312*|NADSYN1_ENST00000539574.1_Nonsense_Mutation_p.Q423*	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	683	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTGGCCTTGGCAGTTTCGGTG	0.473													T	71209551	C	T	71209551	4	4	364	1	0	0	0	0	0	1	0	0	10214	711	25	2	2125	2	NADSYN1	11	71209551	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40042	71209551	63796965	8873	32375											
KRTAP5-9	3846	broad.mit.edu	37	chr11	71260186	71260186	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcccagtccagatgctgtgtCcctgtgtgctaccagtgcaa	7	11	10	13	0	0	1	0	0	0	1	3	1	3	1	4	0	4	3	4	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71260186C>A	ENST00000528743.2	+	1	721	c.483C>A	c.(481-483)gtC>gtA	p.V161V		NM_005553.3	NP_005544.4	P26371	KRA59_HUMAN	keratin associated protein 5-9	161	8 X 4 AA repeats of C-C-X-P.				epidermis development	keratin filament				kidney(1)|large_intestine(1)|lung(6)|prostate(3)	11						GATGCTGTGTCCCTGTGTGCT	0.567													A	71260186	C	A	71260186	2	1	364	1	0	0	0	0	0	0	0	1	8627	842	30	4		4	KRTAP5-9	11	71260186	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50635	71260186	63746330	8874	32376											
RNF121	55298	broad.mit.edu	37	chr11	71671880	71671880	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcctcatcgcaaccttGgtggtggcccagctgctcct	5	11	9	16	1	2	0	2	0	0	0	5	0	4	0	4	3	3	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71671880G>A	ENST00000545854.1	+	0	154				RNF121_ENST00000533380.1_Silent_p.L30L|RNF121_ENST00000530137.1_Silent_p.L30L|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Silent_p.L30L|RNF121_ENST00000361756.3_Silent_p.L62L			Q9H920	RN121_HUMAN	ring finger protein 121							integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						TCGCAACCTTGGTGGTGGCCC	0.542													A	71671880	G	A	71671880	1	1	364	1	0	0	0	0	0	0	0	0	13522	1339	47	2		2	RNF121	11	71671880	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411694	71671880	63334636	8875	32377											
NUMA1	4926	broad.mit.edu	37	chr11	71715338	71715338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgtttgcgcccttcatgtCggtctcggggagtcatgggg	3	13	15	10	3	4	0	2	0	2	0	6	1	4	1	1	5	1	1	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71715338C>T	ENST00000393695.3	-	25	6387	c.6056G>A	c.(6055-6057)cGa>cAa	p.R2019Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R2005Q|NUMA1_ENST00000351960.6_Missense_Mutation_p.R883Q	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	2019					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CCCTTCATGTCGGTCTCGGGG	0.557			T	RARA	APL								T	71715338	C	T	71715338	3	4	364	1	0	0	0	0	1	0	0	0	10826	884	31	1	303	1	NUMA1	11	71715338	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43458	71715338	63291178	8876	32378											
NUMA1	4926	broad.mit.edu	37	chr11	71725431	71725431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgaactccacacgctgctCgttgagggcgttctgcagcc	7	8	12	14	4	1	1	0	1	1	0	3	2	2	1	2	1	5	5	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71725431C>T	ENST00000393695.3	-	15	3449	c.3118G>A	c.(3118-3120)Gag>Aag	p.E1040K	NUMA1_ENST00000358965.6_Missense_Mutation_p.E1040K|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1040					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						ACACGCTGCTCGTTGAGGGCG	0.647			T	RARA	APL								T	71725431	C	T	71725431	3	4	364	1	0	0	0	0	1	0	0	0	10826	893	31	1	3281	1	NUMA1	11	71725431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10093	71725431	63281085	8877	32379											
NUMA1	4926	broad.mit.edu	37	chr11	71726695	71726695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagttgctgctgcagaatCtccagcttggcagccttctc	7	12	10	12	0	2	2	0	1	2	1	4	2	2	2	2	1	5	6	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726695C>A	ENST00000393695.3	-	15	2185	c.1854G>T	c.(1852-1854)gaG>gaT	p.E618D	NUMA1_ENST00000358965.6_Missense_Mutation_p.E618D|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	618					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTGCAGAATCTCCAGCTTGG	0.622			T	RARA	APL								A	71726695	C	A	71726695	3	1	364	1	0	0	0	0	1	0	0	0	10826	912	32	4	4545	4	NUMA1	11	71726695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1264	71726695	63279821	8878	32380											
NUMA1	4926	broad.mit.edu	37	chr11	71726774	71726774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcccttaaggaggcctctCgctcctctgcagcagtggcc	5	9	11	16	1	2	0	0	0	2	0	5	1	4	1	4	3	2	4	4	3	1	1	rs147334088		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71726774C>T	ENST00000393695.3	-	15	2106	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R592Q|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	592					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGAGGCCTCTCGCTCCTCTGC	0.597			T	RARA	APL						OREG0021187	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	71726774	C	T	71726774	3	4	364	1	0	0	0	0	1	0	0	0	10826	884	31	1	4624	1	NUMA1	11	71726774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79	71726774	63279742	8879	32381											
NUMA1	4926	broad.mit.edu	37	chr11	71729310	71729310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctctgtcttcaggtcctgGcactgcttcagggtttcatg	4	16	10	11	0	5	0	3	0	2	0	7	0	6	0	1	3	1	3	1	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71729310G>A	ENST00000393695.3	-	12	1228	c.897C>T	c.(895-897)tgC>tgT	p.C299C	NUMA1_ENST00000358965.6_Silent_p.C299C|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Silent_p.C299C	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	299					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TCAGGTCCTGGCACTGCTTCA	0.552			T	RARA	APL								A	71729310	G	A	71729310	2	1	364	1	0	0	0	0	0	0	0	1	10826	1195	42	2		2	NUMA1	11	71729310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2536	71729310	63277206	8880	32382											
INPPL1	3636	broad.mit.edu	37	chr11	71939482	71939482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggccttgtgtgcgccCtgcttcttcctgtagagggt	4	12	13	12	1	1	1	0	0	1	1	2	1	2	1	4	2	2	2	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71939482C>A	ENST00000298229.2	+	3	541	c.337C>A	c.(337-339)Ctg>Atg	p.L113M	INPPL1_ENST00000538751.1_5'UTR|INPPL1_ENST00000541756.1_5'UTR	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	113	SH2.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TGTGTGCGCCCTGCTTCTTCC	0.672													A	71939482	C	A	71939482	3	1	364	1	0	0	0	0	1	0	0	0	7819	680	24	4	347	4	INPPL1	11	71939482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210172	71939482	63067034	8881	32383											
INPPL1	3636	broad.mit.edu	37	chr11	71942546	71942546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcactctctacccagattgCcatgcaatcactgtggaata	11	11	7	12	0	2	1	1	0	1	1	3	2	2	2	2	1	4	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71942546C>T	ENST00000298229.2	+	13	1706	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	INPPL1_ENST00000538751.1_Missense_Mutation_p.A259V|INPPL1_ENST00000541756.1_Missense_Mutation_p.A259V	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	501					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						ACCCAGATTGCCATGCAATCA	0.522													T	71942546	C	T	71942546	3	4	364	1	0	0	0	0	1	0	0	0	7819	739	26	2	1552	2	INPPL1	11	71942546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3064	71942546	63063970	8882	32384											
INPPL1	3636	broad.mit.edu	37	chr11	71943759	71943759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctctctgcgtttcacacAcctcttctggtttggggacc	5	14	8	14	1	5	0	1	0	4	0	6	1	5	1	2	3	1	2	2	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:71943759A>G	ENST00000298229.2	+	15	2006	c.1802A>G	c.(1801-1803)cAc>cGc	p.H601R	INPPL1_ENST00000538751.1_Missense_Mutation_p.H359R|INPPL1_ENST00000541756.1_Missense_Mutation_p.H359R	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	601					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CGTTTCACACACCTCTTCTGG	0.592													G	71943759	A	G	71943759	3	3	364	1	0	0	0	0	1	0	0	0	7819	159	6	3	1860	3	INPPL1	11	71943759	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1213	71943759	63062757	8883	32385											
ARAP1	116985	broad.mit.edu	37	chr11	72408216	72408216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgtctgcccacacttgCggtagatgccctcggaggtc	6	10	12	13	3	1	1	0	0	1	1	4	3	1	2	2	3	3	1	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408216C>T	ENST00000359373.5	-	22	3829	c.2978G>A	c.(2977-2979)cGc>cAc	p.R993H	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Missense_Mutation_p.R748H|ARAP1_ENST00000426523.1_Missense_Mutation_p.R748H|ARAP1_ENST00000393605.3_Missense_Mutation_p.R753H|ARAP1_ENST00000429686.1_Missense_Mutation_p.R687H|ARAP1_ENST00000455638.2_Missense_Mutation_p.R993H|ARAP1_ENST00000393609.3_Missense_Mutation_p.R993H			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	993	Rho-GAP.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCCACACTTGCGGTAGATGCC	0.682													T	72408216	C	T	72408216	3	4	364	1	0	0	0	0	1	0	0	0	841	768	27	1	1430	1	ARAP1	11	72408216	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	464457	72408216	62598300	8884	32386											
ARAP1	116985	broad.mit.edu	37	chr11	72408651	72408651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggctcacctccttcgCtccaccagcaccagcacctg	6	7	8	20	2	1	0	1	0	0	0	4	0	3	0	7	1	2	4	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72408651C>T	ENST00000359373.5	-	20	3632	c.2781G>A	c.(2779-2781)gaG>gaA	p.E927E	ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000334211.8_Silent_p.E682E|ARAP1_ENST00000426523.1_Silent_p.E682E|ARAP1_ENST00000393605.3_Silent_p.E687E|ARAP1_ENST00000429686.1_Silent_p.E621E|ARAP1_ENST00000455638.2_Silent_p.E927E|ARAP1_ENST00000393609.3_Silent_p.E927E			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	927					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						ACCTCCTTCGCTCCACCAGCA	0.632													T	72408651	C	T	72408651	2	4	364	1	0	0	0	0	0	0	0	1	841	796	28	2		2	ARAP1	11	72408651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	435	72408651	62597865	8885	32387											
ARAP1	116985	broad.mit.edu	37	chr11	72424111	72424111	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgggggaaggggaagcCtcccgggaaatggctgccca	9	4	19	9	1	0	0	0	0	0	0	1	4	1	3	3	7	2	1	3	7	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72424111C>A	ENST00000393605.3	-	0	85				ARAP1_ENST00000334211.8_Intron|ARAP1_ENST00000426523.1_Intron|ARAP1_ENST00000429686.1_Intron|ARAP1_ENST00000455638.2_Intron|ARAP1_ENST00000393609.3_Intron|ARAP1_ENST00000359373.5_Intron			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1						actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						AAGGGGAAGCCTCCCGGGAAA	0.652													A	72424111	C	A	72424111	1	1	364	1	0	0	0	0	0	0	0	0	841	696	24	4		4	ARAP1	11	72424111	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15460	72424111	62582405	8886	32388											
ATG16L2	89849	broad.mit.edu	37	chr11	72537750	72537750	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggggccggggtacaggaGacactgtctggacacaagga	10	5	16	10	1	1	1	0	0	1	1	1	4	1	3	2	7	1	1	2	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72537750G>T	ENST00000321297.5	+	13	1386	c.1248G>T	c.(1246-1248)gaG>gaT	p.E416D	ATG16L2_ENST00000534905.1_Intron	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	416					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			GGGTACAGGAGACACTGTCTG	0.592													T	72537750	G	T	72537750	3	4	364	1	0	0	0	0	1	0	0	0	1097	933	33	4	1298	4	ATG16L2	11	72537750	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113639	72537750	62468766	8887	32389											
FCHSD2	9873	broad.mit.edu	37	chr11	72726854	72726854	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaaaactactaatttacCtgtaatcattccgatcatca	15	12	4	10	1	3	0	3	0	0	0	4	1	4	0	2	1	3	2	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72726854C>A	ENST00000409314.1	-	4	410	c.242G>T	c.(241-243)aGg>aTg	p.R81M	FCHSD2_ENST00000311172.7_Splice_Site_p.R25M|FCHSD2_ENST00000409853.1_Splice_Site_p.R25M|FCHSD2_ENST00000409418.4_Splice_Site_p.R81M|FCHSD2_ENST00000458644.2_5'UTR			O94868	FCSD2_HUMAN	FCH and double SH3 domains 2	81							protein binding			endometrium(2)|large_intestine(11)|lung(5)|ovary(2)|prostate(1)|skin(1)	22			BRCA - Breast invasive adenocarcinoma(5;3.3e-05)			ACTAATTTACCTGTAATCATT	0.308													A	72726854	C	A	72726854	5	1	364	1	0	0	0	0	0	0	1	0	5839	695	24	4	2048	4	FCHSD2	11	72726854	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189104	72726854	62279662	8888	32390											
P2RY2	5029	broad.mit.edu	37	chr11	72945750	72945750	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgcgggggccgcgtaacCtgccacgacacctcggcacc	6	3	14	18	7	0	0	0	0	0	0	1	1	0	0	5	3	2	2	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72945750C>A	ENST00000311131.2	+	3	1013	c.546C>A	c.(544-546)acC>acA	p.T182T	P2RY2_ENST00000393597.2_Silent_p.T182T|P2RY2_ENST00000393596.2_Silent_p.T182T	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	182					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCCGCGTAACCTGCCACGACA	0.692													A	72945750	C	A	72945750	2	1	364	1	0	0	0	0	0	0	0	1	11428	668	24	4		4	P2RY2	11	72945750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218896	72945750	62060766	8889	32391											
P2RY2	5029	broad.mit.edu	37	chr11	72946019	72946019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccctctactactccttccGctcgctggacctcagctgcc	5	10	6	20	2	2	0	1	0	1	0	5	1	4	1	5	1	4	3	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:72946019G>A	ENST00000311131.2	+	3	1282	c.815G>A	c.(814-816)cGc>cAc	p.R272H	P2RY2_ENST00000393597.2_Missense_Mutation_p.R272H|P2RY2_ENST00000393596.2_Missense_Mutation_p.R272H	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	272					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	TACTCCTTCCGCTCGCTGGAC	0.632													A	72946019	G	A	72946019	3	1	364	1	0	0	0	0	1	0	0	0	11428	1087	38	1	817	1	P2RY2	11	72946019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	72946019	62060497	8890	32392											
P2RY6	5031	broad.mit.edu	37	chr11	73007689	73007689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggcggctggcctgccGctgaacatctgtgtcattac	5	11	13	12	2	2	1	1	1	1	0	2	1	2	1	2	3	4	3	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007689G>A	ENST00000393590.2	+	2	425	c.126G>A	c.(124-126)ccG>ccA	p.P42P	P2RY6_ENST00000393592.2_Silent_p.P42P|P2RY6_ENST00000540342.1_Silent_p.P42P|P2RY6_ENST00000349767.2_Silent_p.P42P|P2RY6_ENST00000538328.1_Silent_p.P42P|P2RY6_ENST00000542092.1_Silent_p.P42P|P2RY6_ENST00000540124.1_Silent_p.P42P|P2RY6_ENST00000393591.1_Silent_p.P42P	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	42					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTGGCCTGCCGCTGAACATCT	0.617													A	73007689	G	A	73007689	2	1	364	1	0	0	0	0	0	0	0	1	11430	1074	38	1		1	P2RY6	11	73007689	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61670	73007689	61998827	8891	32393											
P2RY6	5031	broad.mit.edu	37	chr11	73007793	73007793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgacctgctatatgcctGctccctgcccctgctcatct	4	12	8	17	0	2	1	1	1	1	0	3	1	3	1	5	1	5	4	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73007793G>A	ENST00000393590.2	+	2	529	c.230G>A	c.(229-231)tGc>tAc	p.C77Y	P2RY6_ENST00000393592.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000540342.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000349767.2_Missense_Mutation_p.C77Y|P2RY6_ENST00000538328.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000542092.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000540124.1_Missense_Mutation_p.C77Y|P2RY6_ENST00000393591.1_Missense_Mutation_p.C77Y	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	77					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CTATATGCCTGCTCCCTGCCC	0.597													A	73007793	G	A	73007793	3	1	364	1	0	0	0	0	1	0	0	0	11430	1319	46	2	232	2	P2RY6	11	73007793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104	73007793	61998723	8892	32394											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020777	73020777	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcggcctatgtctgactCtgtgggaggagctttccgtg	5	13	13	10	2	2	1	0	1	2	0	4	3	3	3	2	3	1	1	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020777C>A	ENST00000263674.3	+	1	1444	c.1094C>A	c.(1093-1095)tCt>tAt	p.S365Y		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	365					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						ATGTCTGACTCTGTGGGAGGA	0.642													A	73020777	C	A	73020777	3	1	364	1	0	0	0	0	1	0	0	0	903	913	32	4	1096	4	ARHGEF17	11	73020777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12984	73020777	61985739	8893	32395											
ARHGEF17	9828	broad.mit.edu	37	chr11	73020858	73020858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctcccgcggtagcagccGttattccagcacggagaccc	8	6	12	15	4	0	1	0	0	0	1	2	2	2	1	4	3	3	5	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73020858G>A	ENST00000263674.3	+	1	1525	c.1175G>A	c.(1174-1176)cGt>cAt	p.R392H		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	392					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GGTAGCAGCCGTTATTCCAGC	0.627													A	73020858	G	A	73020858	3	1	364	1	0	0	0	0	1	0	0	0	903	1145	40	1	1177	1	ARHGEF17	11	73020858	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81	73020858	61985658	8894	32396											
ARHGEF17	9828	broad.mit.edu	37	chr11	73021058	73021058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaaaagagtcgacagCggaagtccctgtcaaatcca	14	6	10	11	2	1	2	1	1	0	1	4	4	3	3	3	1	2	0	3	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73021058C>T	ENST00000263674.3	+	1	1725	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	459					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GAGTCGACAGCGGAAGTCCCT	0.577													T	73021058	C	T	73021058	3	4	364	1	0	0	0	0	1	0	0	0	903	759	27	1	1377	1	ARHGEF17	11	73021058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200	73021058	61985458	8895	32397											
ARHGEF17	9828	broad.mit.edu	37	chr11	73022552	73022552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggccctcctccagacacGttcgccatgccagtgtgccc	5	7	9	20	3	0	1	0	0	0	1	3	1	2	1	7	1	2	1	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73022552G>A	ENST00000263674.3	+	1	3219	c.2869G>A	c.(2869-2871)Gtt>Att	p.V957I		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	957					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						CTCCAGACACGTTCGCCATGC	0.622													A	73022552	G	A	73022552	3	1	364	1	0	0	0	0	1	0	0	0	903	1145	40	1	2871	1	ARHGEF17	11	73022552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1494	73022552	61983964	8896	32398											
ARHGEF17	9828	broad.mit.edu	37	chr11	73071440	73071440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaggcgctgtgctacGcgctttccttcccgccaacc	7	8	10	16	4	0	1	0	0	0	1	2	1	2	1	4	1	4	4	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73071440G>A	ENST00000263674.3	+	11	4632	c.4282G>A	c.(4282-4284)Gcg>Acg	p.A1428T		NM_014786.3	NP_055601.2	Q96PE2	ARHGH_HUMAN	Rho guanine nucleotide exchange factor (GEF) 17	1428					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(2)	32						GCTGTGCTACGCGCTTTCCTT	0.657													A	73071440	G	A	73071440	3	1	364	1	0	0	0	0	1	0	0	0	903	1087	38	1	4324	1	ARHGEF17	11	73071440	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48888	73071440	61935076	8897	32399											
RELT	84957	broad.mit.edu	37	chr11	73101671	73101671	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggggaggagcccgacctgGtgagcattgccctgctctcc	5	8	14	14	1	1	1	0	1	1	0	2	4	1	3	4	4	4	2	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73101671G>A	ENST00000064780.2	+	3	381		c.e3+1		RELT_ENST00000393580.2_Splice_Site	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor							cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GCCCGACCTGGTGAGCATTGC	0.647													A	73101671	G	A	73101671	5	1	364	1	0	0	0	0	0	0	1	0	13309	1275	44	2	127	2	RELT	11	73101671	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30231	73101671	61904845	8898	32400											
PAAF1	80227	broad.mit.edu	37	chr11	73611337	73611337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtattggaaggacatgtgtTtgatgtgaattgttgcaggt	10	15	14	2	0	0	2	0	2	0	0	0	4	0	4	0	3	1	4	0	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73611337T>C	ENST00000544909.1	+	4	664	c.407T>C	c.(406-408)tTt>tCt	p.F136S	PAAF1_ENST00000376384.5_Missense_Mutation_p.F118S|PAAF1_ENST00000543079.1_Intron|PAAF1_ENST00000544552.1_Missense_Mutation_p.F118S|PAAF1_ENST00000535604.1_Missense_Mutation_p.F20S|PAAF1_ENST00000536003.1_Missense_Mutation_p.F118S|PAAF1_ENST00000541951.1_Missense_Mutation_p.F20S|PAAF1_ENST00000310571.3_Missense_Mutation_p.F135S			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	135					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					GGACATGTGTTTGATGTGAAT	0.463													C	73611337	T	C	73611337	3	2	364	1	0	0	0	0	1	0	0	0	11438	1841	64	3	426	3	PAAF1	11	73611337	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	509666	73611337	61395179	8899	32401											
C2CD3	26005	broad.mit.edu	37	chr11	73796918	73796918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactgtagagcgggttcccGttcagccaaagccctgtaga	11	8	11	11	2	1	2	1	0	0	2	2	2	2	2	3	1	4	4	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73796918G>A	ENST00000334126.7	-	21	3881	c.3655C>T	c.(3655-3657)Cgg>Tgg	p.R1219W	C2CD3_ENST00000313663.7_Missense_Mutation_p.R1219W			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1219	C2 1.		R -> Q (in dbSNP:rs826058).			centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					GCGGGTTCCCGTTCAGCCAAA	0.493													A	73796918	G	A	73796918	3	1	364	1	0	0	0	0	1	0	0	0	2175	1144	40	1	2280	1	C2CD3	11	73796918	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185581	73796918	61209598	8900	32402											
C2CD3	26005	broad.mit.edu	37	chr11	73809210	73809210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaagactcccattttggtgGcctgaaaacacatcaatcac	13	9	7	12	1	2	2	2	1	0	1	3	3	3	2	2	2	1	0	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:73809210G>A	ENST00000334126.7	-	16	3049	c.2823C>T	c.(2821-2823)ggC>ggT	p.G941G	C2CD3_ENST00000313663.7_Silent_p.G941G			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	941						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CATTTTGGTGGCCTGAAAACA	0.458													A	73809210	G	A	73809210	2	1	364	1	0	0	0	0	0	0	0	1	2175	1190	42	2		2	C2CD3	11	73809210	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12292	73809210	61197306	8901	32403											
POLD3	10714	broad.mit.edu	37	chr11	74329667	74329667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtttgagcagtcacatCttcacatgtcaagtgagaca	15	10	8	8	0	4	2	3	2	1	1	4	3	4	2	0	0	1	2	0	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74329667C>A	ENST00000263681.2	+	6	607	c.478C>A	c.(478-480)Ctt>Att	p.L160I	POLD3_ENST00000532497.1_Missense_Mutation_p.L54I|POLD3_ENST00000527458.1_Missense_Mutation_p.L121I	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	160					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					GCAGTCACATCTTCACATGTC	0.488													A	74329667	C	A	74329667	3	1	364	1	0	0	0	0	1	0	0	0	12269	913	32	4	500	4	POLD3	11	74329667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	520457	74329667	60676849	8902	32404											
POLD3	10714	broad.mit.edu	37	chr11	74340269	74340269	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatggcaacagggggaagCgagtagcattatctgatgat	12	9	15	5	1	1	2	0	2	1	0	1	5	1	4	0	4	3	3	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74340269C>T	ENST00000263681.2	+	9	1036	c.907C>T	c.(907-909)Cga>Tga	p.R303*	POLD3_ENST00000532497.1_Nonsense_Mutation_p.R197*|POLD3_ENST00000527458.1_Nonsense_Mutation_p.R264*	NM_006591.2	NP_006582.1	Q15054	DPOD3_HUMAN	polymerase (DNA-directed), delta 3, accessory subunit	303					base-excision repair|DNA strand elongation involved in DNA replication|DNA synthesis involved in DNA repair|mismatch repair|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm	DNA-directed DNA polymerase activity|protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|stomach(1)	18	Breast(11;3.21e-06)					CAGGGGGAAGCGAGTAGCATT	0.383													T	74340269	C	T	74340269	4	4	364	1	0	0	0	0	0	1	0	0	12269	760	27	1	941	1	POLD3	11	74340269	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10602	74340269	60666247	8903	32405											
CHRDL2	25884	broad.mit.edu	37	chr11	74413958	74413958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaggacccggcccggtGccttgggacacctggtagaa	8	5	16	12	3	0	1	0	0	0	1	0	5	0	4	4	6	1	1	4	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74413958G>A	ENST00000376332.3	-	9	1497	c.1001C>T	c.(1000-1002)gCa>gTa	p.A334V	CHRDL2_ENST00000534159.1_5'UTR|CHRDL2_ENST00000263671.5_Missense_Mutation_p.A334V	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	334					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CCGGCCCGGTGCCTTGGGACA	0.567											OREG0021223	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74413958	G	A	74413958	3	1	364	1	0	0	0	0	1	0	0	0	3404	1319	46	2	370	2	CHRDL2	11	74413958	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73689	74413958	60592558	8904	32406											
NEU3	10825	broad.mit.edu	37	chr11	74717250	74717250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catggctcttgtactcacacCcaaccagtaggaaacagagg	13	7	9	12	0	2	1	1	0	1	1	2	2	2	2	2	3	3	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74717250C>T	ENST00000294064.4	+	3	2026	c.1099C>T	c.(1099-1101)Cca>Tca	p.P367S	NEU3_ENST00000529024.1_Intron|NEU3_ENST00000532963.1_3'UTR|NEU3_ENST00000544263.1_Missense_Mutation_p.P334S|NEU3_ENST00000531509.1_Missense_Mutation_p.P367S|NEU3_ENST00000545272.1_Missense_Mutation_p.P258S	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	367										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GTACTCACACCCAACCAGTAG	0.567													T	74717250	C	T	74717250	3	4	364	1	0	0	0	0	1	0	0	0	10419	623	22	2	1109	2	NEU3	11	74717250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303292	74717250	60289266	8905	32407											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904424	74904424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctacgccaacctgctcAtcggctgcctctccttccct	4	11	5	21	2	2	0	1	0	1	0	6	0	4	0	7	1	4	2	7	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74904424A>G	ENST00000289575.5	+	9	1632	c.1237A>G	c.(1237-1239)Atc>Gtc	p.I413V	SLCO2B1_ENST00000531756.1_Missense_Mutation_p.I158V|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I391V|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I297V|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I269V|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.I186V|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.I186V	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	413					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CAACCTGCTCATCGGCTGCCT	0.627													G	74904424	A	G	74904424	3	3	364	1	0	0	0	0	1	0	0	0	14821	217	8	3	1271	3	SLCO2B1	11	74904424	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	187174	74904424	60102092	8906	32408											
ARRB1	408	broad.mit.edu	37	chr11	74989755	74989755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcctctctggggcataCtgaaccttccggatgaccag	8	8	11	14	1	1	2	0	2	1	0	3	3	2	3	5	4	2	1	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74989755C>A	ENST00000420843.2	-	8	613	c.516G>T	c.(514-516)caG>caT	p.Q172H	ARRB1_ENST00000360025.3_Missense_Mutation_p.Q172H|ARRB1_ENST00000393505.4_Missense_Mutation_p.Q172H	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	172					G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						CTGGGGCATACTGAACCTTCC	0.597													A	74989755	C	A	74989755	3	1	364	1	0	0	0	0	1	0	0	0	985	564	20	4	776	4	ARRB1	11	74989755	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85331	74989755	60016761	8907	32409											
ARRB1	408	broad.mit.edu	37	chr11	74992172	74992172	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggctttgacttcataGtccacaccgcaagcctgtgg	10	9	10	12	1	1	2	1	1	0	1	2	2	2	2	3	2	1	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:74992172G>T	ENST00000420843.2	-	7	526	c.429C>A	c.(427-429)gaC>gaA	p.D143E	ARRB1_ENST00000360025.3_Missense_Mutation_p.D143E|ARRB1_ENST00000393505.4_Missense_Mutation_p.D143E	NM_004041.4	NP_004032.2	P49407	ARRB1_HUMAN	arrestin, beta 1	143	Interaction with SRC (By similarity).				G-protein coupled receptor internalization|histone H4 acetylation|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|positive regulation of histone acetylation|positive regulation of Rho protein signal transduction|positive regulation of transcription from RNA polymerase II promoter|post-Golgi vesicle-mediated transport|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|signal transduction|stress fiber assembly|transcription from RNA polymerase II promoter	chromatin|coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane fraction|nucleus|plasma membrane|pseudopodium|soluble fraction	angiotensin receptor binding|enzyme inhibitor activity|GTPase activator activity|insulin-like growth factor receptor binding|transcription factor binding|transcription regulatory region DNA binding|ubiquitin protein ligase binding			breast(4)|large_intestine(2)|lung(4)|prostate(1)	11						TGACTTCATAGTCCACACCGC	0.587													T	74992172	G	T	74992172	3	4	364	1	0	0	0	0	1	0	0	0	985	1020	36	4	867	4	ARRB1	11	74992172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2417	74992172	60014344	8908	32410											
RPS3	6188	broad.mit.edu	37	chr11	75115230	75115230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actacgttgacactgctgtgCgccacgtgttgctcagacag	8	10	11	12	3	1	2	1	1	0	1	1	2	1	2	1	0	4	4	1	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75115230C>T	ENST00000531188.1	+	5	579	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	RPS3_ENST00000534440.1_Intron|RPS3_ENST00000524851.1_Missense_Mutation_p.R173C|RPS3_ENST00000526608.1_Missense_Mutation_p.R161C|RPS3_ENST00000529285.1_Intron|RPS3_ENST00000278572.6_Missense_Mutation_p.R189C|RPS3_ENST00000527446.1_Missense_Mutation_p.R173C	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	173					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						CACTGCTGTGCGCCACGTGTT	0.507													T	75115230	C	T	75115230	3	4	364	1	0	0	0	0	1	0	0	0	13734	768	27	1	535	1	RPS3	11	75115230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123058	75115230	59891286	8909	32411											
KLHL35	283212	broad.mit.edu	37	chr11	75133660	75133660	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgatggtgacacagccGtgggagctggtgcagcgctg	7	8	18	8	2	0	2	0	2	0	0	0	4	0	4	1	4	4	3	1	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75133660G>A	ENST00000539798.1	-	6	1715	c.1716C>T	c.(1714-1716)caC>caT	p.H572H	KLHL35_ENST00000376292.4_Silent_p.H352H	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	352										lung(2)|stomach(1)	3						TGACACAGCCGTGGGAGCTGG	0.612													A	75133660	G	A	75133660	2	1	364	1	0	0	0	0	0	0	0	1	8446	1136	40	1		1	KLHL35	11	75133660	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18430	75133660	59872856	8910	32412											
KLHL35	283212	broad.mit.edu	37	chr11	75139543	75139543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaattctgagcgagtgtagCcgggcaggctgggcagtggg	7	7	19	8	3	1	1	0	1	1	0	1	3	1	1	1	4	2	4	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75139543C>T	ENST00000539798.1	-	2	1009	c.1010G>A	c.(1009-1011)gGc>gAc	p.G337D	KLHL35_ENST00000376292.4_Missense_Mutation_p.G117D	NM_001039548.2	NP_001034637.2	Q6PF15	KLH35_HUMAN	kelch-like family member 35	117										lung(2)|stomach(1)	3						GCGAGTGTAGCCGGGCAGGCT	0.642													T	75139543	C	T	75139543	3	4	364	1	0	0	0	0	1	0	0	0	8446	739	26	2	761	2	KLHL35	11	75139543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5883	75139543	59866973	8911	32413											
GDPD5	81544	broad.mit.edu	37	chr11	75153512	75153512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgcaggttgagcagcaGtgtggcattgcccttggcca	7	9	14	11	1	1	1	1	1	0	0	1	1	1	1	2	3	3	5	2	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75153512G>T	ENST00000526177.1	-	8	2527	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	GDPD5_ENST00000376282.3_Missense_Mutation_p.L236M|GDPD5_ENST00000533784.1_Missense_Mutation_p.L236M|GDPD5_ENST00000336898.3_Missense_Mutation_p.L355M|GDPD5_ENST00000533805.1_Missense_Mutation_p.L110M|GDPD5_ENST00000529721.1_Missense_Mutation_p.L355M|GDPD5_ENST00000443276.2_3'UTR			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	355					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						TTGAGCAGCAGTGTGGCATTG	0.647													T	75153512	G	T	75153512	3	4	364	1	0	0	0	0	1	0	0	0	6383	1020	36	4	778	4	GDPD5	11	75153512	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13969	75153512	59853004	8912	32414											
GDPD5	81544	broad.mit.edu	37	chr11	75168791	75168791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtggtcacaaggatgggtaCgggccagtcgctccagtagc	8	8	15	10	2	1	0	1	0	0	0	3	1	2	1	2	4	2	3	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75168791C>T	ENST00000336898.3	-	5	1099	c.262G>A	c.(262-264)Gta>Ata	p.V88I	GDPD5_ENST00000376282.3_Intron|GDPD5_ENST00000533784.1_Intron|GDPD5_ENST00000529721.1_Missense_Mutation_p.V88I|GDPD5_ENST00000443276.2_Missense_Mutation_p.V88I	NM_030792.6	NP_110419.5	Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	88					glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						AGGATGGGTACGGGCCAGTCG	0.637													T	75168791	C	T	75168791	3	4	364	1	0	0	0	0	1	0	0	0	6383	536	19	1	1607	1	GDPD5	11	75168791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15279	75168791	59837725	8913	32415											
MAP6	4135	broad.mit.edu	37	chr11	75298562	75298562	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcagagaccatggaacCttgattctttatgggtgctg	9	12	12	8	0	2	2	1	1	1	1	2	4	2	3	2	3	2	2	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75298562C>A	ENST00000304771.3	-	4	2734	c.1984G>T	c.(1984-1986)Ggt>Tgt	p.G662C	MAP6_ENST00000526740.1_Missense_Mutation_p.G333C|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	662	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding	p.G662R(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					ACCATGGAACCTTGATTCTTT	0.498													A	75298562	C	A	75298562	3	1	364	1	0	0	0	0	1	0	0	0	9339	681	24	4	461	4	MAP6	11	75298562	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129771	75298562	59707954	8914	32416											
MOGAT2	80168	broad.mit.edu	37	chr11	75439997	75439997	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtcttccagtacagcttTggtttaataccctaccgccg	7	13	9	12	2	1	0	0	0	1	0	2	0	2	0	4	2	4	3	4	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75439997T>C	ENST00000526712.1	+	4	1340	c.567T>C	c.(565-567)ttT>ttC	p.F189F	MOGAT2_ENST00000198801.5_Silent_p.F271F			Q3SYC2	MOGT2_HUMAN	monoacylglycerol O-acyltransferase 2	271					glycerol metabolic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity			NS(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	20	Ovarian(111;0.103)					AGTACAGCTTTGGTTTAATAC	0.562													C	75439997	T	C	75439997	2	2	364	1	0	0	0	0	0	0	0	1	9771	1809	63	3		3	MOGAT2	11	75439997	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	141435	75439997	59566519	8915	32417											
UVRAG	7405	broad.mit.edu	37	chr11	75852240	75852240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagctgagctctgctgtaCtgtggagcaagcagaagaaa	14	7	13	7	0	1	4	0	1	1	3	1	5	1	5	0	1	6	6	0	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75852240C>T	ENST00000356136.3	+	15	2124	c.1883C>T	c.(1882-1884)aCt>aTt	p.T628I	UVRAG_ENST00000538870.1_Missense_Mutation_p.T184I|UVRAG_ENST00000532130.1_Missense_Mutation_p.T256I|UVRAG_ENST00000539288.1_Missense_Mutation_p.T256I|UVRAG_ENST00000528420.1_Missense_Mutation_p.T527I|UVRAG_ENST00000533454.1_Missense_Mutation_p.T256I|UVRAG_ENST00000531818.1_Missense_Mutation_p.T256I	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	628					DNA repair|positive regulation of autophagy	early endosome|late endosome|lysosome	protein binding			central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						CTCTGCTGTACTGTGGAGCAA	0.567													T	75852240	C	T	75852240	3	4	364	1	0	0	0	0	1	0	0	0	17210	565	20	2	1941	2	UVRAG	11	75852240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	412243	75852240	59154276	8916	32418											
WNT11	7481	broad.mit.edu	37	chr11	75898153	75898153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacgctcacacctgcggcAggtgacgtagcagcaccagt	9	6	13	13	3	1	1	1	1	0	0	1	1	1	1	2	3	4	6	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75898153A>G	ENST00000322563.3	-	5	1145	c.1021T>C	c.(1021-1023)Tgc>Cgc	p.C341R		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	341					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						CACCTGCGGCAGGTGACGTAG	0.637													G	75898153	A	G	75898153	3	3	364	1	0	0	0	0	1	0	0	0	17486	188	7	3	47	3	WNT11	11	75898153	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45913	75898153	59108363	8917	32419											
WNT11	7481	broad.mit.edu	37	chr11	75907592	75907592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagttccagcgcatgtcgGcaaaggcccggcgacaggcc	9	4	14	14	4	0	0	0	0	0	0	2	1	1	0	3	4	2	4	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:75907592G>A	ENST00000322563.3	-	2	378	c.254C>T	c.(253-255)gCc>gTc	p.A85V		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	85					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding			breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GCGCATGTCGGCAAAGGCCCG	0.627													A	75907592	G	A	75907592	3	1	364	1	0	0	0	0	1	0	0	0	17486	1203	42	2	826	2	WNT11	11	75907592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9439	75907592	59098924	8918	32420											
C11orf30	56946	broad.mit.edu	37	chr11	76183810	76183810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagttctacaccatcacCtattcctaatacagttgcag	12	11	5	13	0	2	0	1	0	1	0	3	0	3	0	3	0	4	4	3	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76183810C>A	ENST00000529032.1	+	7	1034	c.1034C>A	c.(1033-1035)cCt>cAt	p.P345H	C11orf30_ENST00000524490.1_Missense_Mutation_p.P346H|C11orf30_ENST00000524767.1_Missense_Mutation_p.P360H|C11orf30_ENST00000533248.1_Missense_Mutation_p.P359H|C11orf30_ENST00000343878.3_Missense_Mutation_p.P345H|C11orf30_ENST00000334736.3_Missense_Mutation_p.P345H|C11orf30_ENST00000525919.1_Missense_Mutation_p.P346H|C11orf30_ENST00000525038.1_Missense_Mutation_p.P360H			Q7Z589	EMSY_HUMAN	chromosome 11 open reading frame 30	345	Interaction with BRCA2.|Ser-rich.				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						ACACCATCACCTATTCCTAAT	0.453													A	76183810	C	A	76183810	3	1	364	1	0	0	0	0	1	0	0	0	1648	681	24	4	1060	4	C11orf30	11	76183810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	276218	76183810	58822706	8919	32421											
LRRC32	2615	broad.mit.edu	37	chr11	76372121	76372121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagctgctccagcgcaggCatgtcccggaaggtgtggcg	7	7	15	12	3	1	0	1	0	0	0	3	1	3	1	2	4	3	4	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76372121C>T	ENST00000407242.2	-	3	758	c.516G>A	c.(514-516)atG>atA	p.M172I	AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000260061.5_Missense_Mutation_p.M172I|LRRC32_ENST00000404995.1_Missense_Mutation_p.M172I	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	172						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CCAGCGCAGGCATGTCCCGGA	0.647													T	76372121	C	T	76372121	3	4	364	1	0	0	0	0	1	0	0	0	9057	710	25	2	1476	2	LRRC32	11	76372121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188311	76372121	58634395	8920	32422											
CAPN5	726	broad.mit.edu	37	chr11	76823762	76823762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgatgaccggctgcccaCagtcaacaaccagctcatct	11	7	7	16	2	3	1	2	1	1	0	4	2	3	1	3	1	4	2	3	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76823762C>T	ENST00000278559.3	+	4	614	c.425C>T	c.(424-426)aCa>aTa	p.T142I	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.T142I|CAPN5_ENST00000456580.2_Missense_Mutation_p.T182I	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	142	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGGCTGCCCACAGTCAACAAC	0.597													T	76823762	C	T	76823762	3	4	364	1	0	0	0	0	1	0	0	0	2655	478	17	2	435	2	CAPN5	11	76823762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451641	76823762	58182754	8921	32423											
CAPN5	726	broad.mit.edu	37	chr11	76826516	76826516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcatacgccgtcactgatGtgcgcaaggtgcgcctgggc	7	7	14	13	5	1	1	1	1	0	0	1	1	1	1	2	2	3	2	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76826516G>A	ENST00000278559.3	+	6	964	c.775G>A	c.(775-777)Gtg>Atg	p.V259M	CAPN5_ENST00000531028.1_Intron|CAPN5_ENST00000529629.1_Missense_Mutation_p.V259M|CAPN5_ENST00000456580.2_Missense_Mutation_p.V299M	NM_004055.4	NP_004046.2	O15484	CAN5_HUMAN	calpain 5	259	Calpain catalytic.				proteolysis|signal transduction	intracellular	calcium-dependent cysteine-type endopeptidase activity			NS(1)|breast(2)|endometrium(2)|large_intestine(7)|lung(17)|urinary_tract(1)	30						CGTCACTGATGTGCGCAAGGT	0.637													A	76826516	G	A	76826516	3	1	364	1	0	0	0	0	1	0	0	0	2655	1377	48	2	793	2	CAPN5	11	76826516	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2754	76826516	58180000	8922	32424											
MYO7A	4647	broad.mit.edu	37	chr11	76868017	76868017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcgcgaagattgagcaGtacctgctggaaaagtcacg	12	6	15	8	3	1	2	1	1	0	1	1	5	1	3	1	2	3	3	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76868017G>T	ENST00000409709.3	+	7	974	c.702G>T	c.(700-702)caG>caT	p.Q234H	MYO7A_ENST00000409619.2_Missense_Mutation_p.Q223H|MYO7A_ENST00000409893.1_Missense_Mutation_p.Q234H|MYO7A_ENST00000458637.2_Missense_Mutation_p.Q234H	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	234	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						AGATTGAGCAGTACCTGCTGG	0.597													T	76868017	G	T	76868017	3	4	364	1	0	0	0	0	1	0	0	0	10158	1020	36	4	724	4	MYO7A	11	76868017	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41501	76868017	58138499	8923	32425											
MYO7A	4647	broad.mit.edu	37	chr11	76869430	76869430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgagaactgggagatctcGaagctcctggctgccatcct	9	8	11	13	2	1	2	0	0	1	2	4	5	3	2	4	2	3	2	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76869430G>A	ENST00000409709.3	+	9	1229	c.957G>A	c.(955-957)tcG>tcA	p.S319S	MYO7A_ENST00000409619.2_Silent_p.S308S|MYO7A_ENST00000409893.1_Silent_p.S319S|MYO7A_ENST00000458637.2_Silent_p.S319S	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	319	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						GGGAGATCTCGAAGCTCCTGG	0.632													A	76869430	G	A	76869430	2	1	364	1	0	0	0	0	0	0	0	1	10158	1045	37	1		1	MYO7A	11	76869430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1413	76869430	58137086	8924	32426											
MYO7A	4647	broad.mit.edu	37	chr11	76893070	76893070	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctgcctgacgaggatgAggaggacctctctgagtata	9	8	13	11	1	1	3	0	3	1	0	2	7	1	6	4	3	1	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76893070A>T	ENST00000409709.3	+	24	3250	c.2978A>T	c.(2977-2979)gAg>gTg	p.E993V	MYO7A_ENST00000409619.2_Missense_Mutation_p.E982V|MYO7A_ENST00000409893.1_Missense_Mutation_p.E993V|MYO7A_ENST00000458637.2_Missense_Mutation_p.E993V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	993					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						GACGAGGATGAGGAGGACCTC	0.612													T	76893070	A	T	76893070	3	4	364	1	0	0	0	0	1	0	0	0	10158	304	11	5	3068	5	MYO7A	11	76893070	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23640	76893070	58113446	8925	32427											
MYO7A	4647	broad.mit.edu	37	chr11	76912592	76912592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaactcgggctgggccaacgGcatcaatgagaggaccaagc	12	4	14	11	2	1	1	1	1	0	1	2	4	1	2	2	4	3	2	2	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76912592G>T	ENST00000409709.3	+	36	5224	c.4952G>T	c.(4951-4953)gGc>gTc	p.G1651V	MYO7A_ENST00000409619.2_Missense_Mutation_p.G1602V|MYO7A_ENST00000458637.2_Missense_Mutation_p.G1613V	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1651	SH3.				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						TGGGCCAACGGCATCAATGAG	0.607													T	76912592	G	T	76912592	3	4	364	1	0	0	0	0	1	0	0	0	10158	1203	42	4	5124	4	MYO7A	11	76912592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19522	76912592	58093924	8926	32428											
GDPD4	220032	broad.mit.edu	37	chr11	76980946	76980946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcttaaccttgtgattaCattacattgcttgagtcttt	9	18	5	9	0	2	2	0	2	2	0	2	2	2	2	2	0	4	1	2	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:76980946C>T	ENST00000315938.4	-	7	710	c.460G>A	c.(460-462)Gta>Ata	p.V154I	GDPD4_ENST00000376217.2_Missense_Mutation_p.V154I	NM_182833.1	NP_878253.1	Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	154					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTTGTGATTACATTACATTGC	0.328													T	76980946	C	T	76980946	3	4	364	1	0	0	0	0	1	0	0	0	6382	478	17	2	1142	2	GDPD4	11	76980946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68354	76980946	58025570	8927	32429											
PAK1	5058	broad.mit.edu	37	chr11	77090938	77090938	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctgtgacccaggacttaCcgtaaactcccctgtgacag	9	11	8	13	1	1	2	0	2	1	0	2	3	2	3	4	1	2	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77090938C>T	ENST00000356341.3	-	3	823		c.e3+1		PAK1_ENST00000278568.4_Splice_Site|PAK1_ENST00000528203.1_Splice_Site|PAK1_ENST00000530617.1_Splice_Site	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1						apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					CCAGGACTTACCGTAAACTCC	0.423													T	77090938	C	T	77090938	5	4	364	1	0	0	0	0	0	0	1	0	11475	521	18	2	1450	2	PAK1	11	77090938	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109992	77090938	57915578	8928	32430											
RSF1	51773	broad.mit.edu	37	chr11	77383090	77383090	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacctatgccttaccttCactctctgagctggaaagtc	9	11	9	12	0	2	2	1	1	1	1	4	4	2	3	3	2	3	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77383090C>A	ENST00000308488.6	-	15	4050	c.3748G>T	c.(3748-3750)Gaa>Taa	p.E1250*	RSF1_ENST00000360355.2_Nonsense_Mutation_p.E1219*|RSF1_ENST00000480887.1_Nonsense_Mutation_p.E998*			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1250					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			GCCTTACCTTCACTCTCTGAG	0.413													A	77383090	C	A	77383090	4	1	364	1	0	0	0	0	0	1	0	0	13790	835	29	4	585	4	RSF1	11	77383090	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292152	77383090	57623426	8929	32431											
RSF1	51773	broad.mit.edu	37	chr11	77387955	77387955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgccctctggggtcgttTattttcttttctttcttcat	3	21	7	10	1	5	0	1	0	4	0	6	0	5	0	1	2	2	2	1	2	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77387955T>C	ENST00000308488.6	-	13	3525	c.3223A>G	c.(3223-3225)Aaa>Gaa	p.K1075E	RSF1_ENST00000360355.2_Missense_Mutation_p.K1044E|RSF1_ENST00000480887.1_Missense_Mutation_p.K823E			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1075					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TGGGGTCGTTTATTTTCTTTT	0.468													C	77387955	T	C	77387955	3	2	364	1	0	0	0	0	1	0	0	0	13790	1763	61	3	1118	3	RSF1	11	77387955	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4865	77387955	57618561	8930	32432											
RSF1	51773	broad.mit.edu	37	chr11	77412163	77412164	+	Frame_Shift_Ins	INS	-	-	T																															caacttatatttgaatttgcINSttttttgcatagaacccttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412163_77412164insT	ENST00000308488.6	-	6	2412_2413	c.2110_2111insA	c.(2110-2112)agcfs	p.S704fs	RSF1_ENST00000360355.2_Frame_Shift_Ins_p.S673fs|RSF1_ENST00000480887.1_Frame_Shift_Ins_p.S452fs			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	704					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTGAATTTGCTTTTTTGCATA	0.406													T	77412164	-	T	77412163	7	5	364	1	0	1	1	0	0	0	0	0	13790	797	28	0	2258	0	RSF1	11	77412163	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	24208	77412163	57594353	8931	32433											
RSF1	51773	broad.mit.edu	37	chr11	77412657	77412657	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcagaagaatcaagagaAgtttccatttctggaggatc	14	11	9	7	0	3	3	2	0	2	3	6	6	4	5	1	2	0	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77412657A>G	ENST00000308488.6	-	6	1919	c.1617T>C	c.(1615-1617)acT>acC	p.T539T	RSF1_ENST00000360355.2_Silent_p.T508T|RSF1_ENST00000480887.1_Silent_p.T287T			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	539					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AATCAAGAGAAGTTTCCATTT	0.413													G	77412657	A	G	77412657	2	3	364	1	0	0	0	0	0	0	0	1	13790	59	3	3		3	RSF1	11	77412657	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	494	77412657	57593859	8932	32434											
RSF1	51773	broad.mit.edu	37	chr11	77451833	77451833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgttcttctatgtacattCtgacattgtgatcttgatcc	7	19	6	9	0	4	3	0	3	4	0	5	3	5	3	1	0	1	2	1	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77451833C>T	ENST00000308488.6	-	4	823	c.521G>A	c.(520-522)aGa>aAa	p.R174K	RSF1_ENST00000360355.2_Missense_Mutation_p.R143K			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	174					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TATGTACATTCTGACATTGTG	0.393													T	77451833	C	T	77451833	3	4	364	1	0	0	0	0	1	0	0	0	13790	913	32	2	3856	2	RSF1	11	77451833	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39176	77451833	57554683	8933	32435											
INTS4	92105	broad.mit.edu	37	chr11	77635939	77635939	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatatctctggatgaatcCttttaaaaaaaaagtaataa	19	12	5	5	1	1	1	0	1	1	0	3	3	2	2	1	1	0	1	1	1	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77635939C>A	ENST00000534064.1	-	12	1406		c.e12-1		INTS4_ENST00000525931.1_Splice_Site|INTS4_ENST00000529807.1_Splice_Site	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4						snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			TGGATGAATCCTTTTAAAAAA	0.418													A	77635939	C	A	77635939	5	1	364	1	0	0	0	0	0	0	1	0	7838	695	24	4	1568	4	INTS4	11	77635939	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184106	77635939	57370577	8934	32436											
KCTD14	65987	broad.mit.edu	37	chr11	77734238	77734238	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggccggggggactggggcaGaggggtctggctcgtcatcc	4	6	21	10	2	2	1	1	0	1	1	4	2	3	2	2	9	0	2	2	9	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77734238G>A	ENST00000353172.5	-	1	102	c.58C>T	c.(58-60)Ctg>Ttg	p.L20L	RP11-7I15.4_ENST00000526730.1_RNA|KCTD14_ENST00000533144.1_Intron|NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_001203260.1|NM_001203262.1|NM_001282406.1|NM_023930.3	NP_001190189.1|NP_001190191.1|NP_001269335.1|NP_076419.2	Q9BQ13	KCD14_HUMAN	potassium channel tetramerization domain containing 14	20						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	15	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1e-24)			GACTGGGGCAGAGGGGTCTGG	0.716													A	77734238	G	A	77734238	2	1	364	1	0	0	0	0	0	0	0	1	8159	933	33	2		2	KCTD14	11	77734238	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98299	77734238	57272278	8935	32437											
THRSP	7069	broad.mit.edu	37	chr11	77775031	77775031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggtgatgatccccaGccttctgcgggacgtgcagc	6	8	15	12	2	1	2	0	2	1	0	2	3	2	3	3	3	4	2	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77775031G>A	ENST00000281030.2	+	1	125	c.104G>A	c.(103-105)aGc>aAc	p.S35N	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	35					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			ATGATCCCCAGCCTTCTGCGG	0.612													A	77775031	G	A	77775031	3	1	364	1	0	0	0	0	1	0	0	0	15976	971	34	2	106	2	THRSP	11	77775031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40793	77775031	57231485	8936	32438											
ALG8	79053	broad.mit.edu	37	chr11	77825382	77825382	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgctacatagaggtaGatatgcttgaaatgtaggag	12	11	14	4	0	0	3	0	1	0	2	0	4	0	4	0	3	3	5	0	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77825382G>T	ENST00000376156.3	-	6	606	c.603C>A	c.(601-603)atC>atA	p.I201I	ALG8_ENST00000532552.2_Intron|ALG8_ENST00000299626.5_Silent_p.I201I	NM_001007027.2	NP_001007028.1	Q9BVK2	ALG8_HUMAN	ALG8, alpha-1,3-glucosyltransferase	201					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity|dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	30	all_cancers(14;3.62e-19)|all_epithelial(13;1.27e-21)|Breast(9;8.51e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;9.66e-25)			CATAGAGGTAGATATGCTTGA	0.363													T	77825382	G	T	77825382	2	4	364	1	0	0	0	0	0	0	0	1	523	932	33	4		4	ALG8	11	77825382	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50351	77825382	57181134	8937	32439											
KCTD21	283219	broad.mit.edu	37	chr11	77885145	77885145	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagcttgaggaagaggcaGgaggtgctgaagatgttggc	11	7	19	4	0	0	4	0	2	0	2	0	7	0	7	0	6	2	4	0	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885145G>T	ENST00000340067.3	-	2	734	c.456C>A	c.(454-456)tcC>tcA	p.S152S	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	152						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GGAAGAGGCAGGAGGTGCTGA	0.567													T	77885145	G	T	77885145	2	4	364	1	0	0	0	0	0	0	0	1	8167	987	35	4		4	KCTD21	11	77885145	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59763	77885145	57121371	8938	32440											
KCTD21	283219	broad.mit.edu	37	chr11	77885172	77885172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagatgttggcgttgaaGacctccatgctggaagagga	11	9	14	7	1	0	5	0	2	0	3	1	7	1	7	2	3	1	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885172G>A	ENST00000340067.3	-	2	707	c.429C>T	c.(427-429)gtC>gtT	p.V143V	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	143						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			TGGCGTTGAAGACCTCCATGC	0.557													A	77885172	G	A	77885172	2	1	364	1	0	0	0	0	0	0	0	1	8167	929	33	2		2	KCTD21	11	77885172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	77885172	57121344	8939	32441											
KCTD21	283219	broad.mit.edu	37	chr11	77885272	77885272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagtgtgatgttgagcatgGcattcttctcggccttggag	6	14	13	8	1	3	2	1	2	2	0	4	3	3	3	1	3	1	3	1	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77885272G>A	ENST00000340067.3	-	2	607	c.329C>T	c.(328-330)gCc>gTc	p.A110V	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	110						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			GTTGAGCATGGCATTCTTCTC	0.602													A	77885272	G	A	77885272	3	1	364	1	0	0	0	0	1	0	0	0	8167	1203	42	2	457	2	KCTD21	11	77885272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100	77885272	57121244	8940	32442											
USP35	57558	broad.mit.edu	37	chr11	77918633	77918633	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacagcccctgatgaccaaGctgcagtggctctttggctt	7	11	10	13	0	2	2	1	2	1	0	2	2	2	2	3	2	3	4	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77918633G>T	ENST00000529308.1	+	8	1710	c.1449G>T	c.(1447-1449)aaG>aaT	p.K483N	USP35_ENST00000441408.2_Missense_Mutation_p.K69N|USP35_ENST00000526425.1_Missense_Mutation_p.K214N|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.K51N	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	483					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			TGATGACCAAGCTGCAGTGGC	0.587													T	77918633	G	T	77918633	3	4	364	1	0	0	0	0	1	0	0	0	17168	962	34	4	1475	4	USP35	11	77918633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33361	77918633	57087883	8941	32443											
USP35	57558	broad.mit.edu	37	chr11	77919936	77919936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagagaacttcctctccGcatcctggacgccctggttc	6	9	8	18	2	1	1	0	0	1	1	5	3	3	2	6	2	1	2	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77919936G>A	ENST00000529308.1	+	9	1780	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T	USP35_ENST00000441408.2_Missense_Mutation_p.A93T|USP35_ENST00000526425.1_Missense_Mutation_p.A238T|USP35_ENST00000530535.1_Intron|USP35_ENST00000530267.1_Missense_Mutation_p.A75T	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	507					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			CTTCCTCTCCGCATCCTGGAC	0.627													A	77919936	G	A	77919936	3	1	364	1	0	0	0	0	1	0	0	0	17168	1087	38	1	1549	1	USP35	11	77919936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1303	77919936	57086580	8942	32444											
USP35	57558	broad.mit.edu	37	chr11	77921330	77921330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcatcctcacactgctgcGcttctctttcgacctgcgca	5	12	6	18	3	3	0	2	0	1	0	6	1	4	0	3	0	3	3	3	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921330G>A	ENST00000529308.1	+	10	2690	c.2429G>A	c.(2428-2430)cGc>cAc	p.R810H	USP35_ENST00000441408.2_Missense_Mutation_p.R396H|USP35_ENST00000526425.1_Missense_Mutation_p.R541H|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.R378H	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	810					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACACTGCTGCGCTTCTCTTTC	0.642													A	77921330	G	A	77921330	3	1	364	1	0	0	0	0	1	0	0	0	17168	1087	38	1	2463	1	USP35	11	77921330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1394	77921330	57085186	8943	32445											
USP35	57558	broad.mit.edu	37	chr11	77921496	77921496	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagtggtcactactactgCtatgcccgtgagggcgctgc	7	9	14	11	2	1	2	1	1	0	1	1	3	1	2	1	2	5	2	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:77921496C>A	ENST00000529308.1	+	10	2856	c.2595C>A	c.(2593-2595)tgC>tgA	p.C865*	USP35_ENST00000441408.2_Nonsense_Mutation_p.C451*|USP35_ENST00000526425.1_Nonsense_Mutation_p.C596*|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Nonsense_Mutation_p.C433*	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	865					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ACTACTACTGCTATGCCCGTG	0.627													A	77921496	C	A	77921496	4	1	364	1	0	0	0	0	0	1	0	0	17168	805	28	4	2629	4	USP35	11	77921496	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166	77921496	57085020	8944	32446											
NARS2	79731	broad.mit.edu	37	chr11	78277319	78277319	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatatttgatggggaaatcCtgccaataaatgaaaagaac	17	11	8	5	0	0	3	0	2	0	1	1	4	1	4	2	2	2	0	2	2	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:78277319C>A	ENST00000281038.5	-	4	748		c.e4-1		NARS2_ENST00000528850.1_Splice_Site	NM_001243251.1|NM_024678.5	NP_001230180.1|NP_078954.4	Q96I59	SYNM_HUMAN	asparaginyl-tRNA synthetase 2, mitochondrial (putative)						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)	TGGGGAAATCCTGCCAATAAA	0.363													A	78277319	C	A	78277319	5	1	364	1	0	0	0	0	0	0	1	0	10247	695	24	4	1105	4	NARS2	11	78277319	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	355823	78277319	56729197	8945	32447											
C11orf82	220042	broad.mit.edu	37	chr11	82644518	82644518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttggcagaaagtcaccCttcagagtctgatttttcac	10	14	7	10	0	5	3	3	1	2	2	5	3	5	3	1	1	0	1	1	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644518C>A	ENST00000533655.1	+	6	2350	c.2138C>A	c.(2137-2139)cCt>cAt	p.P713H	C11orf82_ENST00000329143.3_Missense_Mutation_p.P412H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.P713H|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	713					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						GAAAGTCACCCTTCAGAGTCT	0.368													A	82644518	C	A	82644518	3	1	364	1	0	0	0	0	1	0	0	0	1677	681	24	4	2152	4	C11orf82	11	82644518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4367199	82644518	52361998	8946	32448											
C11orf82	220042	broad.mit.edu	37	chr11	82644869	82644869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaaaaatataaaaacacCtagccagaaaatcagaagcc	22	5	4	10	0	1	2	1	0	0	2	2	2	2	2	4	0	3	0	4	0	11	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82644869C>A	ENST00000533655.1	+	6	2701	c.2489C>A	c.(2488-2490)cCt>cAt	p.P830H	C11orf82_ENST00000329143.3_Missense_Mutation_p.P529H|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Missense_Mutation_p.P830H|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	830					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ATAAAAACACCTAGCCAGAAA	0.373													A	82644869	C	A	82644869	3	1	364	1	0	0	0	0	1	0	0	0	1677	681	24	4	2503	4	C11orf82	11	82644869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351	82644869	52361647	8947	32449											
ANKRD42	338699	broad.mit.edu	37	chr11	82936072	82936072	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccagggggctgagtatgaAggaaaagacctagaggatca	15	6	14	6	0	1	4	1	2	0	2	2	6	2	6	2	4	0	2	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82936072A>C	ENST00000260047.6	+	6	1554	c.759A>C	c.(757-759)gaA>gaC	p.E253D	ANKRD42_ENST00000533342.1_Missense_Mutation_p.E254D|ANKRD42_ENST00000393392.2_Missense_Mutation_p.E226D|ANKRD42_ENST00000531895.1_Missense_Mutation_p.E254D			Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	226										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CTGAGTATGAAGGAAAAGACC	0.333													C	82936072	A	C	82936072	3	2	364	1	0	0	0	0	1	0	0	0	670	69	3	5	700	5	ANKRD42	11	82936072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	291203	82936072	52070444	8948	32450											
CCDC90B	60492	broad.mit.edu	37	chr11	82991211	82991211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaagtcctgaaccaatgCatgggtatcaaaagttaatt	14	12	7	8	0	1	1	1	1	0	0	3	1	3	1	3	1	2	3	3	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:82991211C>T	ENST00000529689.1	-	2	627	c.193G>A	c.(193-195)Gca>Aca	p.A65T	CCDC90B_ENST00000529073.1_Missense_Mutation_p.A65T|CCDC90B_ENST00000529611.1_5'UTR|CCDC90B_ENST00000455220.2_Missense_Mutation_p.A56T|CCDC90B_ENST00000525503.1_5'UTR			Q9GZT6	CC90B_HUMAN	coiled-coil domain containing 90B	65						integral to membrane|mitochondrion				kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Acute lymphoblastic leukemia(157;0.103)				TGAACCAATGCATGGGTATCA	0.388													T	82991211	C	T	82991211	3	4	364	1	0	0	0	0	1	0	0	0	2897	710	25	2	603	2	CCDC90B	11	82991211	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55139	82991211	52015305	8949	32451											
SYTL2	54843	broad.mit.edu	37	chr11	85415995	85415995	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacctcccctaggaaactaTtgcgcttaaatgtatcccga	11	10	6	14	2	0	0	0	0	0	0	2	2	2	1	5	1	2	2	5	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85415995T>G	ENST00000359152.5	-	8	4717	c.4718A>C	c.(4717-4719)aAt>aCt	p.N1573T	SYTL2_ENST00000354566.3_Missense_Mutation_p.N1065T|SYTL2_ENST00000525423.1_Missense_Mutation_p.N1049T|SYTL2_ENST00000527523.1_Missense_Mutation_p.N695T|SYTL2_ENST00000525702.1_Missense_Mutation_p.N169T|SYTL2_ENST00000528231.1_Missense_Mutation_p.N727T|SYTL2_ENST00000524452.1_Missense_Mutation_p.N703T|SYTL2_ENST00000389960.4_Missense_Mutation_p.N703T|SYTL2_ENST00000533892.1_Missense_Mutation_p.N129T|SYTL2_ENST00000316356.4_Missense_Mutation_p.N728T|SYTL2_ENST00000389958.3_Missense_Mutation_p.N158T|SYTL2_ENST00000529581.1_Missense_Mutation_p.N169T	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	727					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TAGGAAACTATTGCGCTTAAA	0.373													G	85415995	T	G	85415995	3	3	364	1	0	0	0	0	1	0	0	0	15580	1493	52	5	644	5	SYTL2	11	85415995	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2424784	85415995	49590521	8950	32452											
SYTL2	54843	broad.mit.edu	37	chr11	85422207	85422207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaagattggttaaagagctCgggctcttcttgtgtctgct	7	15	11	8	1	3	2	0	0	3	2	4	2	3	2	0	2	2	4	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85422207C>T	ENST00000359152.5	-	5	4316	c.4317G>A	c.(4315-4317)ccG>ccA	p.P1439P	SYTL2_ENST00000354566.3_Silent_p.P931P|SYTL2_ENST00000525423.1_Silent_p.P915P|SYTL2_ENST00000527523.1_Silent_p.P561P|SYTL2_ENST00000525702.1_Silent_p.P35P|SYTL2_ENST00000528231.1_Silent_p.P593P|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000533892.1_Intron|SYTL2_ENST00000316356.4_Silent_p.P594P|SYTL2_ENST00000389958.3_Silent_p.P24P|SYTL2_ENST00000529581.1_Silent_p.P35P	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	593					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTAAAGAGCTCGGGCTCTTCT	0.423													T	85422207	C	T	85422207	2	4	364	1	0	0	0	0	0	0	0	1	15580	871	31	1		1	SYTL2	11	85422207	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6212	85422207	49584309	8951	32453											
SYTL2	54843	broad.mit.edu	37	chr11	85435377	85435377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggggttacagttttaatgGtccctatttcatgagccaca	9	13	11	8	0	1	1	1	1	0	0	2	1	2	1	2	4	2	2	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85435377G>T	ENST00000359152.5	-	1	3694	c.3695C>A	c.(3694-3696)aCc>aAc	p.T1232N	SYTL2_ENST00000354566.3_Missense_Mutation_p.T708N|SYTL2_ENST00000525423.1_Missense_Mutation_p.T708N|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	393					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGTTTTAATGGTCCCTATTTC	0.488													T	85435377	G	T	85435377	3	4	364	1	0	0	0	0	1	0	0	0	15580	1261	44	4	1747	4	SYTL2	11	85435377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13170	85435377	49571139	8952	32454											
SYTL2	54843	broad.mit.edu	37	chr11	85437295	85437295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttagaagcacctctgCttcatgggtatttttacctg	7	15	10	9	0	2	1	1	0	1	1	2	1	2	1	2	2	3	4	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85437295C>A	ENST00000359152.5	-	1	1776	c.1777G>T	c.(1777-1779)Gca>Tca	p.A593S	SYTL2_ENST00000354566.3_Missense_Mutation_p.A69S|SYTL2_ENST00000525423.1_Missense_Mutation_p.A69S|SYTL2_ENST00000527523.1_Intron|SYTL2_ENST00000528231.1_Intron|SYTL2_ENST00000524452.1_Intron|SYTL2_ENST00000389960.4_Intron|SYTL2_ENST00000316356.4_Intron	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	105	Ser-rich.				intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		AGCACCTCTGCTTCATGGGTA	0.373													A	85437295	C	A	85437295	3	1	364	1	0	0	0	0	1	0	0	0	15580	797	28	4	3665	4	SYTL2	11	85437295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1918	85437295	49569221	8953	32455											
SYTL2	54843	broad.mit.edu	37	chr11	85445108	85445108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaacttctgaatgagaatGcagcccattaattggaaaag	17	10	8	6	0	1	2	0	2	1	1	1	4	1	3	1	1	3	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445108G>A	ENST00000316356.4	-	7	1828	c.1264C>T	c.(1264-1266)Cat>Tat	p.H422Y	SYTL2_ENST00000527523.1_Missense_Mutation_p.H373Y|SYTL2_ENST00000528231.1_Missense_Mutation_p.H421Y|SYTL2_ENST00000524452.1_Missense_Mutation_p.H421Y|SYTL2_ENST00000389960.4_Missense_Mutation_p.H421Y			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	421					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GAATGAGAATGCAGCCCATTA	0.378													A	85445108	G	A	85445108	3	1	364	1	0	0	0	0	1	0	0	0	15580	1319	46	2	4076	2	SYTL2	11	85445108	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7813	85445108	49561408	8954	32456											
SYTL2	54843	broad.mit.edu	37	chr11	85445199	85445199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggttgattgatgaaaaagCgaaggctttctgtattgaga	13	12	13	3	1	1	4	0	4	1	1	1	7	1	4	0	2	1	3	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85445199C>T	ENST00000316356.4	-	7	1737	c.1173G>A	c.(1171-1173)tcG>tcA	p.S391S	SYTL2_ENST00000527523.1_Silent_p.S342S|SYTL2_ENST00000528231.1_Silent_p.S390S|SYTL2_ENST00000524452.1_Silent_p.S390S|SYTL2_ENST00000389960.4_Silent_p.S390S			Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	390					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		GATGAAAAAGCGAAGGCTTTC	0.398													T	85445199	C	T	85445199	2	4	364	1	0	0	0	0	0	0	0	1	15580	755	27	1		1	SYTL2	11	85445199	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91	85445199	49561317	8955	32457											
CCDC83	220047	broad.mit.edu	37	chr11	85622381	85622381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctattcatgaactggaaGcagaaaatttggtgcttatt	13	14	9	5	0	1	2	1	1	0	1	1	3	1	3	0	2	4	3	0	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85622381G>T	ENST00000280245.4	+	8	1242	c.730G>T	c.(730-732)Gca>Tca	p.A244S	CCDC83_ENST00000376067.1_Missense_Mutation_p.A145S|CCDC83_ENST00000529676.2_3'UTR|CCDC83_ENST00000342404.3_Missense_Mutation_p.A244S	NM_173556.3	NP_775827.2	Q8IWF9	CCD83_HUMAN	coiled-coil domain containing 83	244										breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|skin(3)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				TGAACTGGAAGCAGAAAATTT	0.333													T	85622381	G	T	85622381	3	4	364	1	0	0	0	0	1	0	0	0	2885	971	34	4	756	4	CCDC83	11	85622381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177182	85622381	49384135	8956	32458											
PICALM	8301	broad.mit.edu	37	chr11	85692981	85692981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctaggtgggagtttggCaacaggaaggttctggttct	7	13	15	6	0	2	0	0	0	2	0	2	2	2	2	0	6	2	5	0	6	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85692981C>T	ENST00000526033.1	-	15	1877	c.1561G>A	c.(1561-1563)Gcc>Acc	p.A521T	PICALM_ENST00000356360.5_Missense_Mutation_p.A528T|PICALM_ENST00000393346.3_Missense_Mutation_p.A528T|PICALM_ENST00000532317.1_Missense_Mutation_p.A478T|PICALM_ENST00000528398.1_Missense_Mutation_p.A427T	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	528					clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				GGGAGTTTGGCAACAGGAAGG	0.403			T	"MLLT10, MLL"	"TALL, AML, "								T	85692981	C	T	85692981	3	4	364	1	0	0	0	0	1	0	0	0	11957	710	25	2	428	2	PICALM	11	85692981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70600	85692981	49313535	8957	32459											
PICALM	8301	broad.mit.edu	37	chr11	85693047	85693047	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctagttcatcaaagcCttaaagttacaaacagacga	16	9	5	11	1	2	1	2	0	0	1	3	2	3	1	3	0	3	2	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:85693047C>A	ENST00000526033.1	-	15	1812		c.e15-1		PICALM_ENST00000356360.5_Splice_Site|PICALM_ENST00000393346.3_Splice_Site|PICALM_ENST00000532317.1_Splice_Site|PICALM_ENST00000528398.1_Splice_Site	NM_001206946.1|NM_007166.3	NP_001193875.1|NP_009097.2	Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein						clathrin coat assembly|endosome transport|negative regulation of receptor-mediated endocytosis|positive regulation of transcription, DNA-dependent|receptor internalization|regulation of protein localization	clathrin coat|clathrin-coated vesicle|coated pit|Golgi apparatus|nucleus|postsynaptic membrane|presynaptic membrane	1-phosphatidylinositol binding|clathrin heavy chain binding			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				TCATCAAAGCCTTAAAGTTAC	0.408			T	"MLLT10, MLL"	"TALL, AML, "								A	85693047	C	A	85693047	5	1	364	1	0	0	0	0	0	0	1	0	11957	695	24	4	494	4	PICALM	11	85693047	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	85693047	49313469	8958	32460											
ME3	10873	broad.mit.edu	37	chr11	86158194	86158194	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatagggcgctcgtggaaGgaggccatgtccctcagaat	10	8	14	9	2	1	2	1	1	0	1	3	4	2	4	2	4	0	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86158194G>T	ENST00000543262.1	-	12	1619	c.1293C>A	c.(1291-1293)tcC>tcA	p.S431S	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000359636.2_Silent_p.S431S|ME3_ENST00000393324.3_Silent_p.S431S	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	431					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GCTCGTGGAAGGAGGCCATGT	0.602													T	86158194	G	T	86158194	2	4	364	1	0	0	0	0	0	0	0	1	9494	987	35	4		4	ME3	11	86158194	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	465147	86158194	48848322	8959	32461											
ME3	10873	broad.mit.edu	37	chr11	86267742	86267742	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagtgtcatgagaatgatgTaccttgtaaaaggagagaaa	16	9	13	3	0	1	3	1	2	0	2	1	7	1	5	1	2	1	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86267742T>C	ENST00000543262.1	-	4	646	c.320A>G	c.(319-321)tAc>tGc	p.Y107C	RP11-317J19.1_ENST00000524610.1_RNA|ME3_ENST00000323418.6_Missense_Mutation_p.Y45C|ME3_ENST00000359636.2_Missense_Mutation_p.Y107C|ME3_ENST00000393324.3_Missense_Mutation_p.Y107C	NM_001161586.1	NP_001155058.1	Q16798	MAON_HUMAN	malic enzyme 3, NADP(+)-dependent, mitochondrial	107					aerobic respiration|malate metabolic process|oxygen metabolic process|pyruvate metabolic process	mitochondrial matrix	malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|metal ion binding|NAD binding			endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|skin(3)|stomach(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(157;4.34e-06)|all_hematologic(158;0.00252)			NADH(DB00157)	GAGAATGATGTACCTTGTAAA	0.522													C	86267742	T	C	86267742	3	2	364	1	0	0	0	0	1	0	0	0	9494	1638	57	3	1542	3	ME3	11	86267742	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	109548	86267742	48738774	8960	32462											
FZD4	8322	broad.mit.edu	37	chr11	86663407	86663407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccaaattccttcaggaCgggttcacagcgtctcttga	11	11	8	11	2	3	1	2	1	1	0	6	2	5	2	2	2	1	1	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:86663407C>T	ENST00000531380.1	-	2	696	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	131	FZ.				canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCCTTCAGGACGGGTTCACAG	0.517													T	86663407	C	T	86663407	3	4	364	1	0	0	0	0	1	0	0	0	6184	536	19	1	1226	1	FZD4	11	86663407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395665	86663407	48343109	8961	32463											
TMEM135	65084	broad.mit.edu	37	chr11	87024485	87024485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtactagttgcttcctgCgctggatcagaaacttagat	10	12	11	8	1	1	2	1	0	0	2	2	3	2	3	1	2	4	4	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:87024485C>T	ENST00000340353.7	+	10	1091	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TMEM135_ENST00000535167.1_Missense_Mutation_p.R180C|TMEM135_ENST00000532959.1_Missense_Mutation_p.R190C|TMEM135_ENST00000305494.5_Missense_Mutation_p.R319C	NM_001168724.1	NP_001162195.1	Q86UB9	TM135_HUMAN	transmembrane protein 135	319						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TTGCTTCCTGCGCTGGATCAG	0.294													T	87024485	C	T	87024485	3	4	364	1	0	0	0	0	1	0	0	0	16151	768	27	1	997	1	TMEM135	11	87024485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	361078	87024485	47982031	8962	32464											
GRM5	2915	broad.mit.edu	37	chr11	88242605	88242605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgatgtggatggacaggcGctgccacaggtgctgccccc	6	8	15	12	1	0	1	0	1	0	0	0	3	0	3	3	4	3	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242605G>A	ENST00000418177.2	-	10	3161	c.2794C>T	c.(2794-2796)Cgc>Tgc	p.R932C	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Missense_Mutation_p.R900C|GRM5_ENST00000305447.4_Missense_Mutation_p.R932C|GRM5_ENST00000455756.2_Missense_Mutation_p.R900C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	932					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	ATGGACAGGCGCTGCCACAGG	0.597													A	88242605	G	A	88242605	3	1	364	1	0	0	0	0	1	0	0	0	6855	1087	38	1	848	1	GRM5	11	88242605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1218120	88242605	46763911	8963	32465											
GRM5	2915	broad.mit.edu	37	chr11	88242657	88242657	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcattctgggcccacgtgacGgattttccattggaactgag	8	12	11	10	2	2	2	1	2	1	0	3	4	3	4	2	3	1	0	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88242657G>A	ENST00000418177.2	-	10	3109	c.2742C>T	c.(2740-2742)tcC>tcT	p.S914S	GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Intron|GRM5_ENST00000305432.5_Silent_p.S882S|GRM5_ENST00000305447.4_Silent_p.S914S|GRM5_ENST00000455756.2_Silent_p.S882S			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	914					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCCACGTGACGGATTTTCCAT	0.587													A	88242657	G	A	88242657	2	1	364	1	0	0	0	0	0	0	0	1	6855	1103	39	1		1	GRM5	11	88242657	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	88242657	46763859	8964	32466											
GRM5	2915	broad.mit.edu	37	chr11	88323889	88323889	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctgacttctccctttcGgatcacctaaggcaaatatt	11	12	6	12	1	2	1	1	1	1	0	4	2	2	2	2	2	1	2	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88323889G>A	ENST00000418177.2	-	7	1937	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	GRM5_ENST00000393297.1_Nonsense_Mutation_p.R524*|GRM5_ENST00000305432.5_Nonsense_Mutation_p.R524*|GRM5_ENST00000305447.4_Nonsense_Mutation_p.R524*|GRM5_ENST00000455756.2_Nonsense_Mutation_p.R524*			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	524					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	TCTCCCTTTCGGATCACCTAA	0.388													A	88323889	G	A	88323889	4	1	364	1	0	0	0	0	0	1	0	0	6855	1124	39	1	2084	1	GRM5	11	88323889	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81232	88323889	46682627	8965	32467											
GRM5	2915	broad.mit.edu	37	chr11	88338068	88338068	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccataggccatcgaataGatggcgttgatcacaaatcc	13	8	9	11	2	1	2	1	1	0	1	3	3	2	2	3	2	1	1	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88338068G>T	ENST00000418177.2	-	5	1579	c.1212C>A	c.(1210-1212)atC>atA	p.I404I	GRM5_ENST00000393297.1_Silent_p.I404I|GRM5_ENST00000305432.5_Silent_p.I404I|GRM5_ENST00000305447.4_Silent_p.I404I|GRM5_ENST00000455756.2_Silent_p.I404I			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	404					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	CCATCGAATAGATGGCGTTGA	0.458													T	88338068	G	T	88338068	2	4	364	1	0	0	0	0	0	0	0	1	6855	932	33	4		4	GRM5	11	88338068	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14179	88338068	46668448	8966	32468											
TYR	7299	broad.mit.edu	37	chr11	88911510	88911510	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgatttgagtgccccagAgaaggacaaattttttgcct	10	13	9	9	1	0	2	0	1	0	1	1	5	0	3	3	1	2	0	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911510A>C	ENST00000263321.5	+	1	891	c.389A>C	c.(388-390)gAg>gCg	p.E130A	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	130					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AGTGCCCCAGAGAAGGACAAA	0.448													C	88911510	A	C	88911510	3	2	364	1	0	0	0	0	1	0	0	0	16915	304	11	5	391	5	TYR	11	88911510	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	573442	88911510	46095006	8967	32469											
TYR	7299	broad.mit.edu	37	chr11	88911756	88911756	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttttctgccttggcataGactcttcttgttgcggtggg	4	16	12	9	1	3	1	0	0	3	1	3	1	3	1	1	3	3	3	1	3	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:88911756G>T	ENST00000263321.5	+	1	1137	c.635G>T	c.(634-636)aGa>aTa	p.R212I	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	212					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	CCTTGGCATAGACTCTTCTTG	0.453													T	88911756	G	T	88911756	3	4	364	1	0	0	0	0	1	0	0	0	16915	942	33	4	637	4	TYR	11	88911756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246	88911756	46094760	8968	32470											
NOX4	50507	broad.mit.edu	37	chr11	89106614	89106614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatacctgtccagtctcctActattttaagatgaacccca	12	12	4	13	0	1	2	0	1	1	1	3	2	2	2	5	0	3	0	5	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89106614A>G	ENST00000535633.1	-	12	1359	c.1049T>C	c.(1048-1050)gTa>gCa	p.V350A	NOX4_ENST00000424319.1_Missense_Mutation_p.V350A|NOX4_ENST00000534731.1_Missense_Mutation_p.V374A|NOX4_ENST00000527626.1_Missense_Mutation_p.V208A|NOX4_ENST00000375979.3_Missense_Mutation_p.V67A|NOX4_ENST00000531342.1_Missense_Mutation_p.V67A|NOX4_ENST00000263317.4_Missense_Mutation_p.V374A|NOX4_ENST00000343727.5_Missense_Mutation_p.V350A|NOX4_ENST00000532825.1_Missense_Mutation_p.V350A|NOX4_ENST00000528341.1_Missense_Mutation_p.V349A|NOX4_ENST00000527956.1_Missense_Mutation_p.V350A|NOX4_ENST00000525196.1_Intron|NOX4_ENST00000413594.2_Missense_Mutation_p.V395A|NOX4_ENST00000542487.1_Missense_Mutation_p.V350A	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	374	FAD-binding FR-type.|Mediates interaction with TLR4.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				CCAGTCTCCTACTATTTTAAG	0.274													G	89106614	A	G	89106614	3	3	364	1	0	0	0	0	1	0	0	0	10634	391	14	3	643	3	NOX4	11	89106614	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	194858	89106614	45899902	8969	32471											
NOX4	50507	broad.mit.edu	37	chr11	89182670	89182670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcttttatccaacaatCtcctggttctcctgcttgga	6	17	6	12	0	3	0	0	0	3	0	6	1	4	1	3	2	3	3	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89182670C>T	ENST00000535633.1	-	4	525	c.215G>A	c.(214-216)aGa>aAa	p.R72K	NOX4_ENST00000424319.1_Missense_Mutation_p.R72K|NOX4_ENST00000534731.1_Missense_Mutation_p.R96K|NOX4_ENST00000527626.1_Intron|NOX4_ENST00000375979.3_Intron|NOX4_ENST00000531342.1_Intron|NOX4_ENST00000263317.4_Missense_Mutation_p.R96K|NOX4_ENST00000343727.5_Missense_Mutation_p.R72K|NOX4_ENST00000532825.1_Missense_Mutation_p.R72K|NOX4_ENST00000528341.1_Missense_Mutation_p.R71K|NOX4_ENST00000527956.1_Missense_Mutation_p.R72K|NOX4_ENST00000525196.1_Missense_Mutation_p.R96K|NOX4_ENST00000413594.2_Missense_Mutation_p.R117K|NOX4_ENST00000542487.1_Missense_Mutation_p.R72K	NM_001143836.1|NM_016931.3	NP_001137308.1|NP_058627.1	Q9NPH5	NOX4_HUMAN	NADPH oxidase 4	96	Ferric oxidoreductase.				cell aging|cell morphogenesis|inflammatory response|negative regulation of cell proliferation|superoxide anion generation	endoplasmic reticulum membrane|focal adhesion|integral to membrane|nucleus	electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|nucleotide binding|oxygen sensor activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(20)|ovary(2)|prostate(3)|skin(2)	44		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.011)				ATCCAACAATCTCCTGGTTCT	0.303													T	89182670	C	T	89182670	3	4	364	1	0	0	0	0	1	0	0	0	10634	913	32	2	1509	2	NOX4	11	89182670	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76056	89182670	45823846	8970	32472											
FOLH1B	219595	broad.mit.edu	37	chr11	89392808	89392808	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctatccagacggttggaatCttcctggaggtggtgtccag	7	11	13	10	1	1	1	0	0	1	1	4	3	4	3	4	5	0	1	4	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89392808C>T	ENST00000532352.1	+	0	631							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CGGTTGGAATCTTCCTGGAGG	0.512													T	89392808	C	T	89392808	1	4	364	0	1	0	0	0	0	0	0	0	6029	928	32	2		2	FOLH1B	11	89392808	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210138	89392808	45613708	8971	32473											
NAALAD2	10003	broad.mit.edu	37	chr11	89911126	89911126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaaaaaacaactttctgtgGctcaattacgaggagcactg	14	11	8	8	1	2	0	1	0	1	0	2	2	2	1	0	2	4	2	0	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:89911126G>A	ENST00000534061.1	+	16	1929	c.1699G>A	c.(1699-1701)Gct>Act	p.A567T	NAALAD2_ENST00000375944.3_Intron|NAALAD2_ENST00000321955.4_Missense_Mutation_p.A534T	NM_005467.3	NP_005458.1	Q9Y3Q0	NALD2_HUMAN	N-acetylated alpha-linked acidic dipeptidase 2	567	NAALADase.				proteolysis	integral to membrane	carboxypeptidase activity|dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metallopeptidase activity|serine-type peptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(32)|pancreas(1)|prostate(3)|skin(5)|stomach(2)	59		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00556)				ACTTTCTGTGGCTCAATTACG	0.358													A	89911126	G	A	89911126	3	1	364	1	0	0	0	0	1	0	0	0	10204	1203	42	2	1761	2	NAALAD2	11	89911126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	518318	89911126	45095390	8972	32474											
FAT3	120114	broad.mit.edu	37	chr11	92086202	92086202	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccattgtggctggggatccTttagatcagttcttcctggc	5	15	11	10	0	2	1	1	0	1	1	5	2	5	2	3	4	0	2	3	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92086202T>G	ENST00000298047.6	+	1	941	c.924T>G	c.(922-924)ccT>ccG	p.P308P	FAT3_ENST00000409404.2_Silent_p.P308P|FAT3_ENST00000541502.1_Silent_p.P308P|FAT3_ENST00000525166.1_Silent_p.P158P			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	308	Cadherin 3.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CTGGGGATCCTTTAGATCAGT	0.453										TCGA Ovarian(4;0.039)			G	92086202	T	G	92086202	2	3	364	1	0	0	0	0	0	0	0	1	5740	1596	56	5		5	FAT3	11	92086202	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2175076	92086202	42920314	8973	32475											
FAT3	120114	broad.mit.edu	37	chr11	92087394	92087394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaaaagcaaatgggaaaCtgaatctggaagatggattt	17	8	12	4	0	1	2	0	1	1	1	1	5	1	5	0	4	2	2	0	4	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92087394C>G	ENST00000298047.6	+	1	2133	c.2116C>G	c.(2116-2118)Ctg>Gtg	p.L706V	FAT3_ENST00000409404.2_Missense_Mutation_p.L706V|FAT3_ENST00000541502.1_Missense_Mutation_p.L706V|FAT3_ENST00000525166.1_Missense_Mutation_p.L556V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	706					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AAATGGGAAACTGAATCTGGA	0.398										TCGA Ovarian(4;0.039)			G	92087394	C	G	92087394	3	3	364	1	0	0	0	0	1	0	0	0	5740	564	20	4	2118	4	FAT3	11	92087394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1192	92087394	42919122	8974	32476											
FAT3	120114	broad.mit.edu	37	chr11	92534102	92534102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacttattccctctatagCgaggcctctgtttcagtggc	7	15	8	11	1	3	0	1	0	2	0	4	1	4	0	2	2	2	1	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92534102C>T	ENST00000298047.6	+	9	7940	c.7923C>T	c.(7921-7923)agC>agT	p.S2641S	FAT3_ENST00000409404.2_Silent_p.S2641S|FAT3_ENST00000525166.1_Silent_p.S2491S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2641	Cadherin 24.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	p.S2641S(2)		NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCCTCTATAGCGAGGCCTCTG	0.473										TCGA Ovarian(4;0.039)			T	92534102	C	T	92534102	2	4	364	1	0	0	0	0	0	0	0	1	5740	767	27	1		1	FAT3	11	92534102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	446708	92534102	42472414	8975	32477											
FAT3	120114	broad.mit.edu	37	chr11	92577645	92577645	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactggacatgctgtttgcGgtggagatgcacagcagcga	10	8	14	9	2	0	1	0	0	0	1	0	4	0	2	0	3	6	4	0	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92577645G>A	ENST00000298047.6	+	18	11129	c.11112G>A	c.(11110-11112)gcG>gcA	p.A3704A	FAT3_ENST00000409404.2_Silent_p.A3704A|FAT3_ENST00000533797.1_Silent_p.A39A|FAT3_ENST00000525166.1_Silent_p.A3554A			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3704					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGCTGTTTGCGGTGGAGATGC	0.567										TCGA Ovarian(4;0.039)			A	92577645	G	A	92577645	2	1	364	1	0	0	0	0	0	0	0	1	5740	1103	39	1		1	FAT3	11	92577645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43543	92577645	42428871	8976	32478											
FAT3	120114	broad.mit.edu	37	chr11	92600234	92600234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatactgaataacaatgagCtgccgctgcagaacaagcgc	14	7	10	10	2	0	4	0	3	0	1	0	4	0	4	1	0	7	3	1	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92600234C>T	ENST00000298047.6	+	21	12003	c.11986C>T	c.(11986-11988)Ctg>Ttg	p.L3996L	FAT3_ENST00000409404.2_Silent_p.L3996L|FAT3_ENST00000533797.1_Silent_p.L331L|FAT3_ENST00000525166.1_Silent_p.L3846L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3996	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAACAATGAGCTGCCGCTGCA	0.637										TCGA Ovarian(4;0.039)			T	92600234	C	T	92600234	2	4	364	1	0	0	0	0	0	0	0	1	5740	796	28	2		2	FAT3	11	92600234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22589	92600234	42406282	8977	32479											
SLC36A4	120103	broad.mit.edu	37	chr11	92881927	92881927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttcaaccaaaggtggcaGgattagggccaatgtgctgc	12	9	12	8	0	1	0	1	0	0	0	1	1	1	1	2	4	3	2	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92881927G>T	ENST00000326402.4	-	11	1421	c.1291C>A	c.(1291-1293)Ctg>Atg	p.L431M	SLC36A4_ENST00000529184.1_Missense_Mutation_p.L296M	NM_152313.2	NP_689526.2	Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4	431					L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				AAAGGTGGCAGGATTAGGGCC	0.393													T	92881927	G	T	92881927	3	4	364	1	0	0	0	0	1	0	0	0	14690	991	35	4	227	4	SLC36A4	11	92881927	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	281693	92881927	42124589	8978	32480											
SLC36A4	120103	broad.mit.edu	37	chr11	92917608	92917609	+	Translation_Start_Site	INS	-	-	T																															gtcttaccactatgcctgcaINSttttttattgccaatggaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:92917608_92917609insT	ENST00000529184.1	-	0	465_466				SLC36A4_ENST00000326402.4_Frame_Shift_Ins_p.N86fs			Q6YBV0	S36A4_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 4						L-alanine transport|proline transport|tryptophan transport	integral to membrane	symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	25		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTATGCCTGCATTTTTTATTGC	0.351													T	92917609	-	T	92917608	6	5	364	1	0	1	1	0	0	0	0	0	14690	214	8	0		0	SLC36A4	11	92917608	Translation_Start_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	35681	92917608	42088908	8979	32481											
TAF1D	79101	broad.mit.edu	37	chr11	93470275	93470275	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccatcatcatccaaaaatTtgtatctacgactgtcaaaa	16	12	3	10	1	4	0	3	0	1	0	6	1	6	0	2	0	1	1	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93470275T>G	ENST00000448108.2	-	4	1240	c.590A>C	c.(589-591)aAa>aCa	p.K197T		NM_024116.3	NP_077021.1	Q9H5J8	TAF1D_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, D, 41kDa	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			large_intestine(1)|lung(3)|prostate(1)|skin(2)	7						ATCCAAAAATTTGTATCTACG	0.308													G	93470275	T	G	93470275	3	3	364	1	0	0	0	0	1	0	0	0	15619	1841	64	5	258	5	TAF1D	11	93470275	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	552667	93470275	41536241	8980	32482											
HEPHL1	341208	broad.mit.edu	37	chr11	93800872	93800872	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatgatagccgagaatcCtgggaagtggatgataacct	15	8	12	6	1	0	4	0	2	0	2	1	7	1	6	3	2	2	0	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93800872C>A	ENST00000315765.9	+	5	1027	c.1019C>A	c.(1018-1020)cCt>cAt	p.P340H		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	340	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCCGAGAATCCTGGGAAGTGG	0.453													A	93800872	C	A	93800872	3	1	364	1	0	0	0	0	1	0	0	0	7110	681	24	4	1037	4	HEPHL1	11	93800872	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330597	93800872	41205644	8981	32483											
HEPHL1	341208	broad.mit.edu	37	chr11	93821949	93821949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgttttgtgccaccatGccccacctctcgagaggcat	7	10	11	13	1	1	1	0	0	1	1	2	2	1	1	5	2	2	2	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93821949G>A	ENST00000315765.9	+	12	2117	c.2109G>A	c.(2107-2109)atG>atA	p.M703I		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	703	Plastocyanin-like 4.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GTGCCACCATGCCCCACCTCT	0.483													A	93821949	G	A	93821949	3	1	364	1	0	0	0	0	1	0	0	0	7110	1319	46	2	2155	2	HEPHL1	11	93821949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21077	93821949	41184567	8982	32484											
HEPHL1	341208	broad.mit.edu	37	chr11	93826743	93826743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtggtttacagggaatatAcggatggagaatttgtggag	12	11	16	2	1	0	1	0	0	0	1	0	5	0	4	0	6	2	1	0	6	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93826743A>G	ENST00000315765.9	+	13	2379	c.2371A>G	c.(2371-2373)Acg>Gcg	p.T791A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	791	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				CAGGGAATATACGGATGGAGA	0.463													G	93826743	A	G	93826743	3	3	364	1	0	0	0	0	1	0	0	0	7110	391	14	3	2421	3	HEPHL1	11	93826743	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4794	93826743	41179773	8983	32485											
HEPHL1	341208	broad.mit.edu	37	chr11	93837825	93837825	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttaatgagaatgaatcctgGtatctggatgacaatattaa	15	14	8	4	0	1	3	0	3	1	1	2	5	2	4	1	2	0	1	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:93837825G>A	ENST00000315765.9	+	16	2822	c.2814G>A	c.(2812-2814)tgG>tgA	p.W938*		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	938	Plastocyanin-like 6.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				ATGAATCCTGGTATCTGGATG	0.358													A	93837825	G	A	93837825	4	1	364	1	0	0	0	0	0	1	0	0	7110	1270	44	2	2876	2	HEPHL1	11	93837825	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11082	93837825	41168691	8984	32486											
GPR83	10888	broad.mit.edu	37	chr11	94113341	94113341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcacaatgggttccaCagatgacaggtctgtcttcc	9	11	9	12	1	3	2	1	1	2	1	6	2	5	2	2	2	0	1	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94113341C>T	ENST00000243673.2	-	4	1417	c.1246G>A	c.(1246-1248)Gtg>Atg	p.V416M	GPR83_ENST00000539203.2_Missense_Mutation_p.V374M	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	416						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.V416L(1)		NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATGGGTTCCACAGATGACAGG	0.557													T	94113341	C	T	94113341	3	4	364	1	0	0	0	0	1	0	0	0	6767	478	17	2	29	2	GPR83	11	94113341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275516	94113341	40893175	8985	32487											
GPR83	10888	broad.mit.edu	37	chr11	94126758	94126758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaccctttgtgattgagatCcggggtttcaaggggtgcat	8	12	13	8	1	1	2	1	2	0	1	2	3	2	2	2	4	1	2	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94126758C>T	ENST00000243673.2	-	3	711	c.540G>A	c.(538-540)cgG>cgA	p.R180R	GPR83_ENST00000539203.2_Silent_p.R138R	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	180						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATTGAGATCCGGGGTTTCA	0.463													T	94126758	C	T	94126758	2	4	364	1	0	0	0	0	0	0	0	1	6767	842	30	2		2	GPR83	11	94126758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13417	94126758	40879758	8986	32488											
MRE11A	4361	broad.mit.edu	37	chr11	94200986	94200986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaataggacttactcgcagtCgtacaagaggcttctctggc	11	10	10	10	2	1	1	0	0	1	1	4	2	1	2	0	3	2	3	0	3	5	4	rs140528613		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94200986C>T	ENST00000323929.3	-	10	1313	c.1091G>A	c.(1090-1092)cGa>cAa	p.R364Q	MRE11A_ENST00000393241.4_Missense_Mutation_p.R364Q|MRE11A_ENST00000407439.3_Missense_Mutation_p.R367Q|MRE11A_ENST00000323977.3_Missense_Mutation_p.R364Q	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	364					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				TACTCGCAGTCGTACAAGAGG	0.328								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				T	94200986	C	T	94200986	3	4	364	1	0	0	0	0	1	0	0	0	9835	884	31	1	1079	1	MRE11A	11	94200986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74228	94200986	40805530	8987	32489											
MRE11A	4361	broad.mit.edu	37	chr11	94224008	94224008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacactcacttcattttcCtgggcaagtcttaaaatttc	11	14	4	12	0	3	0	2	0	1	0	5	0	4	0	2	1	0	1	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94224008C>A	ENST00000323929.3	-	3	366	c.144G>T	c.(142-144)caG>caT	p.Q48H	MRE11A_ENST00000393241.4_Missense_Mutation_p.Q48H|MRE11A_ENST00000407439.3_Missense_Mutation_p.Q51H|MRE11A_ENST00000540013.1_Missense_Mutation_p.Q48H|MRE11A_ENST00000323977.3_Missense_Mutation_p.Q48H|MRE11A_ENST00000536144.1_5'UTR	NM_005591.3	NP_005582.1	P49959	MRE11_HUMAN	MRE11 meiotic recombination 11 homolog A (S. cerevisiae)	48					DNA duplex unwinding|double-strand break repair via homologous recombination|double-strand break repair via nonhomologous end joining|negative regulation of DNA endoreduplication|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|sister chromatid cohesion|telomere maintenance via telomerase	Mre11 complex|nucleoplasm	3'-5' exonuclease activity|double-stranded DNA binding|manganese ion binding|protein C-terminus binding|single-stranded DNA specific endodeoxyribonuclease activity			breast(5)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	29		Acute lymphoblastic leukemia(157;2.37e-05)|all_hematologic(158;0.00824)				CTTCATTTTCCTGGGCAAGTC	0.333								Homologous recombination	Ataxia-Telangiectasia-Like Disorder				A	94224008	C	A	94224008	3	1	364	1	0	0	0	0	1	0	0	0	9835	680	24	4	2054	4	MRE11A	11	94224008	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23022	94224008	40782508	8988	32490											
ANKRD49	54851	broad.mit.edu	37	chr11	94231653	94231653	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtatctatcactacctCtttgaaattgtggaaggctg	12	13	8	8	0	3	1	1	1	2	0	3	2	3	2	1	2	1	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94231653C>A	ENST00000544612.1	+	3	1172	c.675C>A	c.(673-675)ctC>ctA	p.L225L	ANKRD49_ENST00000538535.1_3'UTR|ANKRD49_ENST00000544253.1_3'UTR|ANKRD49_ENST00000302755.4_Silent_p.L225L	NM_017704.2	NP_060174.2	Q8WVL7	ANR49_HUMAN	ankyrin repeat domain 49	225					positive regulation of transcription, DNA-dependent					autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|urinary_tract(1)	12		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATCACTACCTCTTTGAAATTG	0.398													A	94231653	C	A	94231653	2	1	364	1	0	0	0	0	0	0	0	1	675	900	32	4		4	ANKRD49	11	94231653	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7645	94231653	40774863	8989	32491											
KDM4D	55693	broad.mit.edu	37	chr11	94730996	94730996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaacactaaacaatggaatCttgggcacctgggaacaatt	17	8	8	8	0	1	0	0	0	1	0	1	2	1	2	1	3	3	1	1	3	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94730996C>T	ENST00000335080.5	+	3	1292	c.460C>T	c.(460-462)Ctt>Ttt	p.L154F	KDM4D_ENST00000536741.1_Missense_Mutation_p.L154F	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	154	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACAATGGAATCTTGGGCACCT	0.438													T	94730996	C	T	94730996	3	4	364	1	0	0	0	0	1	0	0	0	8189	913	32	2	462	2	KDM4D	11	94730996	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	499343	94730996	40275520	8990	32492											
KDM4D	55693	broad.mit.edu	37	chr11	94731271	94731271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggccttcctgcggcacaaGgtggccctcatctcgcctac	5	8	12	16	2	2	0	1	0	1	0	4	0	3	0	4	5	2	1	4	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94731271G>T	ENST00000335080.5	+	3	1567	c.735G>T	c.(733-735)aaG>aaT	p.K245N	KDM4D_ENST00000536741.1_Missense_Mutation_p.K245N	NM_018039.2	NP_060509.2	Q6B0I6	KDM4D_HUMAN	lysine (K)-specific demethylase 4D	245	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(16)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGCGGCACAAGGTGGCCCTCA	0.592													T	94731271	G	T	94731271	3	4	364	1	0	0	0	0	1	0	0	0	8189	991	35	4	737	4	KDM4D	11	94731271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275	94731271	40275245	8991	32493											
SESN3	143686	broad.mit.edu	37	chr11	94918426	94918426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaagaaaactaaccccaaaGttgctgcctgaaagagatgc	16	7	8	10	0	0	3	0	1	0	2	0	4	0	3	3	0	5	2	3	0	6	3	rs138689867		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:94918426G>A	ENST00000536441.1	-	5	1092	c.756C>T	c.(754-756)aaC>aaT	p.N252N	RP11-712B9.2_ENST00000534891.1_RNA|RP11-712B9.2_ENST00000534864.1_RNA|SESN3_ENST00000416495.2_Silent_p.N252N|SESN3_ENST00000278499.2_Silent_p.N113N|SESN3_ENST00000393234.1_Silent_p.N252N	NM_001271594.1|NM_144665.2	NP_001258523.1|NP_653266.2	P58005	SESN3_HUMAN	sestrin 3	252					cell cycle arrest	nucleus				endometrium(5)|large_intestine(6)|lung(3)|skin(1)|stomach(1)	16		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.234)		TAACCCCAAAGTTGCTGCCTG	0.313													A	94918426	G	A	94918426	2	1	364	1	0	0	0	0	0	0	0	1	14219	1020	36	2		2	SESN3	11	94918426	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187155	94918426	40088090	8992	32494											
CEP57	9702	broad.mit.edu	37	chr11	95546134	95546134	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatcttcaagataagattCgacgcttggaacttgagagg	14	10	11	6	2	2	4	1	1	1	4	3	7	2	5	0	2	1	1	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95546134C>T	ENST00000325542.5	+	3	479	c.241C>T	c.(241-243)Cga>Tga	p.R81*	CEP57_ENST00000538658.1_Nonsense_Mutation_p.R81*|CEP57_ENST00000536587.1_3'UTR|CEP57_ENST00000325486.5_Nonsense_Mutation_p.R81*|CEP57_ENST00000541150.1_Nonsense_Mutation_p.R72*|CEP57_ENST00000537677.1_Nonsense_Mutation_p.R54*	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	81	centrosome localization domain (CLD) (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGATAAGATTCGACGCTTGGA	0.368									Mosaic Variegated Aneuploidy Syndrome				T	95546134	C	T	95546134	4	4	364	1	0	0	0	0	0	1	0	0	3286	876	31	1	251	1	CEP57	11	95546134	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	627708	95546134	39460382	8993	32495											
CEP57	9702	broad.mit.edu	37	chr11	95564323	95564323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagattttatgaaactgaGacctggagaaaaaaggagaa	20	7	11	3	0	0	5	0	2	0	4	0	9	0	5	1	2	1	0	1	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95564323G>T	ENST00000325542.5	+	11	1644	c.1406G>T	c.(1405-1407)aGa>aTa	p.R469I	CEP57_ENST00000325486.5_Missense_Mutation_p.R443I|CEP57_ENST00000541150.1_Missense_Mutation_p.R460I|CEP57_ENST00000537677.1_Missense_Mutation_p.R442I	NM_001243776.1|NM_014679.4	NP_001230705.1|NP_055494.2	Q86XR8	CEP57_HUMAN	centrosomal protein 57kDa	469	Mediates interaction with microtubules (By similarity).				fibroblast growth factor receptor signaling pathway|G2/M transition of mitotic cell cycle|protein import into nucleus, translocation|spermatid development	centrosome|cytosol|Golgi apparatus|microtubule|nucleus	fibroblast growth factor binding|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGAAACTGAGACCTGGAGAA	0.368									Mosaic Variegated Aneuploidy Syndrome				T	95564323	G	T	95564323	3	4	364	1	0	0	0	0	1	0	0	0	3286	942	33	4	1448	4	CEP57	11	95564323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18189	95564323	39442193	8994	32496											
MTMR2	8898	broad.mit.edu	37	chr11	95582927	95582928	+	Frame_Shift_Ins	INS	-	-	T																															tccatgatagcttgaaggtaINStttttcatcttctttgcttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95582927_95582928insT	ENST00000393223.3	-	11	1349_1350	c.687_688insA	c.(685-690)aaatacfs	p.Y230fs	MTMR2_ENST00000352297.7_Frame_Shift_Ins_p.Y230fs|MTMR2_ENST00000409459.1_Frame_Shift_Ins_p.Y230fs|MTMR2_ENST00000346299.5_Frame_Shift_Ins_p.Y302fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	302	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				GCTTGAAGGTATTTTTCATCTT	0.441													T	95582928	-	T	95582927	7	5	364	1	0	1	1	0	0	0	0	0	10020	449	16	0	1055	0	MTMR2	11	95582927	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	18604	95582927	39423589	8995	32497											
MTMR2	8898	broad.mit.edu	37	chr11	95591744	95591744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcattagattctcaaatatgGatcttcttgtccgcccctca	9	15	5	12	1	5	1	3	0	3	1	7	2	6	2	3	1	0	0	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:95591744G>T	ENST00000393223.3	-	8	967	c.305C>A	c.(304-306)tCc>tAc	p.S102Y	MTMR2_ENST00000484818.1_5'UTR|MTMR2_ENST00000352297.7_Missense_Mutation_p.S102Y|MTMR2_ENST00000346299.5_Missense_Mutation_p.S174Y|MTMR2_ENST00000409459.1_Missense_Mutation_p.S102Y	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	174	GRAM.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CTCAAATATGGATCTTCTTGT	0.323													T	95591744	G	T	95591744	3	4	364	1	0	0	0	0	1	0	0	0	10020	1174	41	4	1450	4	MTMR2	11	95591744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8817	95591744	39414772	8996	32498											
CCDC82	79780	broad.mit.edu	37	chr11	96092318	96092318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaattctggtacggctggCacaaattctgccaacagtga	13	10	9	9	1	2	1	0	1	2	0	2	1	2	1	1	3	3	3	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96092318C>T	ENST00000278520.5	-	8	1833	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T	CCDC82_ENST00000542662.1_Missense_Mutation_p.A469T|CCDC82_ENST00000423339.2_Missense_Mutation_p.A469T			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	469							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTACGGCTGGCACAAATTCTG	0.328													T	96092318	C	T	96092318	3	4	364	1	0	0	0	0	1	0	0	0	2884	710	25	2	237	2	CCDC82	11	96092318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	500574	96092318	38914198	8997	32499											
CCDC82	79780	broad.mit.edu	37	chr11	96098203	96098203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgttatacaactctcCtgataaatgcactgaatatt	12	14	6	9	0	1	2	0	2	1	0	2	2	1	2	2	1	3	2	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96098203C>T	ENST00000278520.5	-	7	1749	c.1321G>A	c.(1321-1323)Gga>Aga	p.G441R	CCDC82_ENST00000542662.1_Missense_Mutation_p.G441R|CCDC82_ENST00000423339.2_Missense_Mutation_p.G441R			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	441							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		TACAACTCTCCTGATAAATGC	0.333													T	96098203	C	T	96098203	3	4	364	1	0	0	0	0	1	0	0	0	2884	690	24	2	325	2	CCDC82	11	96098203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5885	96098203	38908313	8998	32500											
CCDC82	79780	broad.mit.edu	37	chr11	96106557	96106557	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatataatgttcccagaaAagattcatctaaagcgttga	16	11	6	8	1	2	3	1	1	1	2	3	3	3	3	2	0	1	2	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96106557A>C	ENST00000278520.5	-	5	1494	c.1066T>G	c.(1066-1068)Ttt>Gtt	p.F356V	CCDC82_ENST00000542662.1_Missense_Mutation_p.F356V|CCDC82_ENST00000423339.2_Missense_Mutation_p.F356V			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	356							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		GTTCCCAGAAAAGATTCATCT	0.269													C	96106557	A	C	96106557	3	2	364	1	0	0	0	0	1	0	0	0	2884	14	1	5	588	5	CCDC82	11	96106557	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8354	96106557	38899959	8999	32501											
CCDC82	79780	broad.mit.edu	37	chr11	96117716	96117716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccttgttactatcaagctCttcatcattttcaaaacttt	10	18	2	11	0	5	0	4	0	1	0	6	0	6	0	1	0	3	2	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117716C>T	ENST00000278520.5	-	3	624	c.196G>A	c.(196-198)Gag>Aag	p.E66K	CCDC82_ENST00000542662.1_Missense_Mutation_p.E66K|CCDC82_ENST00000423339.2_Missense_Mutation_p.E66K			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	66							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		CTATCAAGCTCTTCATCATTT	0.338													T	96117716	C	T	96117716	3	4	364	1	0	0	0	0	1	0	0	0	2884	922	32	2	1466	2	CCDC82	11	96117716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11159	96117716	38888800	9000	32502											
CCDC82	79780	broad.mit.edu	37	chr11	96117847	96117847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcgcctccaatcaactcgaGatttctgctcaggcacgtga	9	11	8	13	3	3	2	2	1	1	1	6	3	4	2	2	1	2	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96117847G>A	ENST00000278520.5	-	3	493	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CCDC82_ENST00000542662.1_Missense_Mutation_p.S22F|CCDC82_ENST00000423339.2_Missense_Mutation_p.S22F			Q8N4S0	CCD82_HUMAN	coiled-coil domain containing 82	22							protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)		BRCA - Breast invasive adenocarcinoma(274;0.154)		ATCAACTCGAGATTTCTGCTC	0.348													A	96117847	G	A	96117847	3	1	364	1	0	0	0	0	1	0	0	0	2884	942	33	2	1597	2	CCDC82	11	96117847	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131	96117847	38888669	9001	32503											
JRKL	8690	broad.mit.edu	37	chr11	96125218	96125218	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgaggaggaggaaataGaactaattccagagaaacat	21	6	10	4	0	0	3	0	1	0	2	1	7	1	6	1	3	2	0	1	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:96125218G>T	ENST00000458427.1	+	1	2061	c.1405G>T	c.(1405-1407)Gaa>Taa	p.E469*	JRKL_ENST00000332349.4_Nonsense_Mutation_p.E469*|JRKL_ENST00000546177.1_Intron	NM_003772.3	NP_003763.2	Q9Y4A0	JERKL_HUMAN	jerky homolog-like (mouse)	469					central nervous system development|regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding	p.E469*(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)		BRCA - Breast invasive adenocarcinoma(274;0.148)		GGAGGAAATAGAACTAATTCC	0.403													T	96125218	G	T	96125218	4	4	364	1	0	0	0	0	0	1	0	0	8023	943	33	4	1407	4	JRKL	11	96125218	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7371	96125218	38881298	9002	32504											
CNTN5	53942	broad.mit.edu	37	chr11	99827614	99827614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggttcatctcccaggaGacaggcaacctttatatttc	9	11	9	12	2	2	1	1	0	1	1	4	2	2	1	2	4	1	2	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:99827614G>T	ENST00000524871.1	+	8	1040	c.750G>T	c.(748-750)gaG>gaT	p.E250D	CNTN5_ENST00000527185.1_Missense_Mutation_p.E250D|CNTN5_ENST00000418526.2_Missense_Mutation_p.E176D|CNTN5_ENST00000528682.1_Missense_Mutation_p.E250D|CNTN5_ENST00000279463.3_Missense_Mutation_p.E250D	NM_014361.3	NP_055176.1	O94779	CNTN5_HUMAN	contactin 5	250	Ig-like C2-type 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(12)|lung(38)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	81		all_hematologic(158;1.22e-05)|Acute lymphoblastic leukemia(157;3.81e-05)|Melanoma(852;0.219)		BRCA - Breast invasive adenocarcinoma(274;0.00146)|KIRC - Kidney renal clear cell carcinoma(183;0.156)|Kidney(183;0.196)		TCTCCCAGGAGACAGGCAACC	0.428													T	99827614	G	T	99827614	3	4	364	1	0	0	0	0	1	0	0	0	3675	933	33	4	772	4	CNTN5	11	99827614	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3702396	99827614	35178902	9003	32505											
TMEM133	83935	broad.mit.edu	37	chr11	100863304	100863304	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgtaatatcgagtatTcatcaactggtctcaatttc	12	14	7	8	1	3	1	3	0	1	1	6	2	3	1	0	1	1	3	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100863304T>C	ENST00000303130.2	+	1	494	c.265T>C	c.(265-267)Tca>Cca	p.S89P		NM_032021.2	NP_114410.1	Q9H2Q1	TM133_HUMAN	transmembrane protein 133	89						integral to membrane				kidney(2)|large_intestine(1)|lung(1)|prostate(1)	5		Acute lymphoblastic leukemia(157;0.000869)|all_hematologic(158;0.014)		BRCA - Breast invasive adenocarcinoma(274;0.0675)		TATCGAGTATTCATCAACTGG	0.403													C	100863304	T	C	100863304	3	2	364	1	0	0	0	0	1	0	0	0	16149	1783	62	3	267	3	TMEM133	11	100863304	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1035690	100863304	34143212	9004	32506											
PGR	5241	broad.mit.edu	37	chr11	100909896	100909896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatccctgccaatatcttgGgtaattgtgcagcaataact	11	12	7	11	0	1	0	0	0	1	0	2	0	2	0	3	1	4	3	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100909896G>A	ENST00000325455.5	-	8	4206	c.2753C>T	c.(2752-2754)cCc>cTc	p.P918L	PGR_ENST00000534013.1_Missense_Mutation_p.P324L|PGR_ENST00000263463.5_Missense_Mutation_p.P816L	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	918	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	CAATATCTTGGGTAATTGTGC	0.353													A	100909896	G	A	100909896	3	1	364	1	0	0	0	0	1	0	0	0	11882	1232	43	2	52	2	PGR	11	100909896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46592	100909896	34096620	9005	32507											
PGR	5241	broad.mit.edu	37	chr11	100998621	100998621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgcgcggaggcctccGcgccttcctcctcctccttt	2	9	12	18	5	0	0	0	0	0	0	5	2	5	2	7	3	1	0	7	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:100998621G>A	ENST00000325455.5	-	1	2634	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.A394V	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	394	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGAGGCCTCCGCGCCTTCCTC	0.701													A	100998621	G	A	100998621	3	1	364	1	0	0	0	0	1	0	0	0	11882	1087	38	1	1652	1	PGR	11	100998621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88725	100998621	34007895	9006	32508											
TRPC6	7225	broad.mit.edu	37	chr11	101341917	101341917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatcaagctaagttaccttGttcatctctgcatcttcctg	8	17	5	11	0	4	0	2	0	2	0	6	0	5	0	2	0	3	4	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101341917G>A	ENST00000344327.3	-	9	2830	c.2406C>T	c.(2404-2406)aaC>aaT	p.N802N	TRPC6_ENST00000360497.4_Silent_p.N747N|TRPC6_ENST00000348423.4_Silent_p.N686N|TRPC6_ENST00000532133.1_Silent_p.N724N	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	802					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		AAGTTACCTTGTTCATCTCTG	0.378													A	101341917	G	A	101341917	2	1	364	1	0	0	0	0	0	0	0	1	16684	1368	48	2		2	TRPC6	11	101341917	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	343296	101341917	33664599	9007	32509											
TRPC6	7225	broad.mit.edu	37	chr11	101342090	101342090	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccagagtttggcccttgCaaatttccactccacatcag	12	10	6	13	0	1	1	1	0	0	1	3	1	3	1	4	1	2	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101342090C>G	ENST00000344327.3	-	9	2657	c.2233G>C	c.(2233-2235)Gca>Cca	p.A745P	TRPC6_ENST00000360497.4_Missense_Mutation_p.A690P|TRPC6_ENST00000348423.4_Missense_Mutation_p.A629P|TRPC6_ENST00000532133.1_Missense_Mutation_p.A667P	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	745					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTGGCCCTTGCAAATTTCCAC	0.428													G	101342090	C	G	101342090	3	3	364	1	0	0	0	0	1	0	0	0	16684	710	25	4	582	4	TRPC6	11	101342090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173	101342090	33664426	9008	32510											
KIAA1377	57562	broad.mit.edu	37	chr11	101793417	101793417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttagaagaagagcgccaGatattactgcagcaacaaaa	19	7	8	7	1	0	4	0	0	0	4	0	4	0	4	1	0	5	2	1	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101793417G>T	ENST00000263468.8	+	2	444	c.174G>T	c.(172-174)caG>caT	p.Q58H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	58							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		AAGAGCGCCAGATATTACTGC	0.338													T	101793417	G	T	101793417	3	4	364	1	0	0	0	0	1	0	0	0	8285	933	33	4	180	4	KIAA1377	11	101793417	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	451327	101793417	33213099	9009	32511											
KIAA1377	57562	broad.mit.edu	37	chr11	101815130	101815130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttcctctttcacagcGgaggaaagcaggtgccttaa	10	10	10	11	1	2	0	1	0	1	0	3	2	3	2	3	3	3	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101815130G>A	ENST00000263468.8	+	3	653	c.383G>A	c.(382-384)cGg>cAg	p.R128Q		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	128							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CTTTCACAGCGGAGGAAAGCA	0.338													A	101815130	G	A	101815130	3	1	364	1	0	0	0	0	1	0	0	0	8285	1116	39	1	393	1	KIAA1377	11	101815130	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21713	101815130	33191386	9010	32512											
KIAA1377	57562	broad.mit.edu	37	chr11	101829098	101829098	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatctaagcaatttgcaaGtatgaaactataaaaatgtt	19	12	5	5	0	1	1	0	1	1	0	1	1	1	1	0	0	4	4	0	0	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101829098G>A	ENST00000263468.8	+	5	975		c.e5+1		KIAA1377_ENST00000537689.1_Splice_Site	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377								protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CAATTTGCAAGTATGAAACTA	0.353													A	101829098	G	A	101829098	5	1	364	1	0	0	0	0	0	0	1	0	8285	1043	36	2	724	2	KIAA1377	11	101829098	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13968	101829098	33177418	9011	32513											
KIAA1377	57562	broad.mit.edu	37	chr11	101834143	101834143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcaacatatttacacaaGctcagggaaaattaattata	19	11	5	6	0	2	0	2	0	0	0	2	1	2	1	0	1	3	1	0	1	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834143G>A	ENST00000263468.8	+	6	2647	c.2377G>A	c.(2377-2379)Gct>Act	p.A793T	KIAA1377_ENST00000537689.1_Missense_Mutation_p.A594T	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	793							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATTTACACAAGCTCAGGGAAA	0.383													A	101834143	G	A	101834143	3	1	364	1	0	0	0	0	1	0	0	0	8285	971	34	2	2399	2	KIAA1377	11	101834143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5045	101834143	33172373	9012	32514											
KIAA1377	57562	broad.mit.edu	37	chr11	101834222	101834222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaaaaatatacaagtgtCtcagtgtcaaccagtaactc	15	11	7	8	0	2	0	2	0	1	0	4	0	2	0	1	1	3	2	1	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101834222C>A	ENST00000263468.8	+	6	2726	c.2456C>A	c.(2455-2457)tCt>tAt	p.S819Y	KIAA1377_ENST00000537689.1_Missense_Mutation_p.S620Y	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	819							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		ATACAAGTGTCTCAGTGTCAA	0.328													A	101834222	C	A	101834222	3	1	364	1	0	0	0	0	1	0	0	0	8285	913	32	4	2478	4	KIAA1377	11	101834222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79	101834222	33172294	9013	32515											
C11orf70	85016	broad.mit.edu	37	chr11	101929663	101929663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgaagttactttcagattCttctggacaatggatcatat	11	17	7	6	0	4	2	2	1	2	1	4	4	4	4	0	2	1	1	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101929663C>T	ENST00000434758.2	+	3	273	c.245C>T	c.(244-246)tCt>tTt	p.S82F	C11orf70_ENST00000526781.1_Missense_Mutation_p.S82F|C11orf70_ENST00000534360.1_Missense_Mutation_p.S82F	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	82										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		CTTTCAGATTCTTCTGGACAA	0.249													T	101929663	C	T	101929663	3	4	364	1	0	0	0	0	1	0	0	0	1671	913	32	2	137	2	C11orf70	11	101929663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95441	101929663	33076853	9014	32516											
C11orf70	85016	broad.mit.edu	37	chr11	101937226	101937227	+	Frame_Shift_Ins	INS	-	-	A																															ttttttcaggaactgaagtgINSaaaaaaattgaagctataaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937226_101937227insA	ENST00000434758.2	+	4	307_308	c.279_280insA	c.(280-282)aaafs	p.K94fs	C11orf70_ENST00000526781.1_Frame_Shift_Ins_p.K94fs|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	94										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		GAACTGAAGTGAAAAAAATTGA	0.287													A	101937227	-	A	101937226	7	5	364	1	0	1	1	0	0	0	0	0	1671	1277	45	0	175	0	C11orf70	11	101937226	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	7563	101937226	33069290	9015	32517											
C11orf70	85016	broad.mit.edu	37	chr11	101937271	101937271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgcacacagctttcaatGtcattttttcatcggttata	9	17	5	10	1	3	0	3	0	0	0	4	0	3	0	1	1	2	3	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101937271G>A	ENST00000434758.2	+	4	352	c.324G>A	c.(322-324)atG>atA	p.M108I	C11orf70_ENST00000526781.1_Missense_Mutation_p.M108I|C11orf70_ENST00000534360.1_Intron	NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	108								p.M70I(1)		breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AGCTTTCAATGTCATTTTTTC	0.284													A	101937271	G	A	101937271	3	1	364	1	0	0	0	0	1	0	0	0	1671	1377	48	2	220	2	C11orf70	11	101937271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	101937271	33069245	9016	32518											
C11orf70	85016	broad.mit.edu	37	chr11	101953841	101953841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccttcagcaaagaatcatGaacagacattttcttacttt	14	14	4	9	0	3	3	2	1	1	2	4	3	4	3	1	0	3	1	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:101953841G>A	ENST00000434758.2	+	7	743	c.715G>A	c.(715-717)Gaa>Aaa	p.E239K		NM_032930.2	NP_116319.2	Q9BRQ4	CK070_HUMAN	chromosome 11 open reading frame 70	239										breast(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|skin(2)	12	all_epithelial(12;0.0137)	Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.0137)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0335)		AAAGAATCATGAACAGACATT	0.308													A	101953841	G	A	101953841	3	1	364	1	0	0	0	0	1	0	0	0	1671	1291	45	2	623	2	C11orf70	11	101953841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16570	101953841	33052675	9017	32519											
BIRC2	329	broad.mit.edu	37	chr11	102239204	102239204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaacagttaatgatattGtgtcagcacttcttaatgct	14	15	6	6	0	2	1	1	1	1	0	2	1	2	1	0	0	3	3	0	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102239204G>A	ENST00000227758.2	+	6	2690	c.1291G>A	c.(1291-1293)Gtg>Atg	p.V431M	BIRC2_ENST00000532672.1_Missense_Mutation_p.V410M|BIRC2_ENST00000530675.1_Missense_Mutation_p.V382M|BIRC2_ENST00000527910.1_3'UTR	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	431					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TAATGATATTGTGTCAGCACT	0.383													A	102239204	G	A	102239204	3	1	364	1	0	0	0	0	1	0	0	0	1441	1377	48	2	1309	2	BIRC2	11	102239204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	285363	102239204	32767312	9018	32520											
TMEM123	114908	broad.mit.edu	37	chr11	102272907	102272907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactgttggaagtttcatttGtatggtcagaaggcacatgt	10	15	11	5	0	2	1	2	0	0	1	2	2	2	2	0	3	1	4	0	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102272907G>A	ENST00000398136.2	-	3	608	c.188C>T	c.(187-189)aCa>aTa	p.T63I	TMEM123_ENST00000525577.1_5'UTR|TMEM123_ENST00000532161.1_5'UTR|TMEM123_ENST00000361236.3_Missense_Mutation_p.T44I	NM_052932.2	NP_443164.2	Q8N131	PORIM_HUMAN	transmembrane protein 123	63	Thr-rich.				oncosis	external side of plasma membrane|integral to membrane	receptor activity			breast(3)|kidney(1)|large_intestine(1)|lung(3)|urinary_tract(1)	9	all_cancers(8;0.00027)|all_epithelial(12;0.0021)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0314)|Lung(13;0.109)|all cancers(10;0.12)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0149)		AGTTTCATTTGTATGGTCAGA	0.413													A	102272907	G	A	102272907	3	1	364	1	0	0	0	0	1	0	0	0	16136	1377	48	2	450	2	TMEM123	11	102272907	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33703	102272907	32733609	9019	32521											
MMP20	9313	broad.mit.edu	37	chr11	102477310	102477310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccagcattgtcacagcGtcaaaggatgagctggagtc	10	9	11	11	1	2	1	2	1	0	0	4	3	3	3	2	2	3	2	2	2	1	2	rs145296288		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102477310G>A	ENST00000260228.2	-	6	921	c.909C>T	c.(907-909)gaC>gaT	p.D303D	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	303	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TTGTCACAGCGTCAAAGGATG	0.577													A	102477310	G	A	102477310	2	1	364	1	0	0	0	0	0	0	0	1	9734	1136	40	1		1	MMP20	11	102477310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	204403	102477310	32529206	9020	32522											
MMP20	9313	broad.mit.edu	37	chr11	102487664	102487664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtctggtctaacttccCggtgacttggaggccaaaga	8	11	13	9	1	2	2	0	1	2	1	3	3	3	3	2	5	1	0	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102487664C>T	ENST00000260228.2	-	2	265	c.253G>A	c.(253-255)Ggg>Agg	p.G85R	RP11-817J15.2_ENST00000542119.1_RNA	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	85					proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	p.G85W(1)|p.G85R(1)		endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCTAACTTCCCGGTGACTTGG	0.478													T	102487664	C	T	102487664	3	4	364	1	0	0	0	0	1	0	0	0	9734	652	23	1	1234	1	MMP20	11	102487664	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10354	102487664	32518852	9021	32523											
MMP27	64066	broad.mit.edu	37	chr11	102562576	102562576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcttatgatacaatatcTttatgcctcctgaatgtgct	11	16	5	9	0	2	2	0	2	2	0	3	2	3	2	2	0	4	1	2	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102562576T>C	ENST00000260229.4	-	10	1554	c.1463A>G	c.(1462-1464)aAg>aGg	p.K488R		NM_022122.2	NP_071405.2	Q9H306	MMP27_HUMAN	matrix metallopeptidase 27	488					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(12)|ovary(2)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45	all_cancers(8;0.000843)|all_epithelial(12;0.00362)|Lung NSC(15;0.21)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0509)|Lung(13;0.0696)|LUSC - Lung squamous cell carcinoma(19;0.13)|all cancers(10;0.176)	BRCA - Breast invasive adenocarcinoma(274;0.0151)		ATACAATATCTTTATGCCTCC	0.299													C	102562576	T	C	102562576	3	2	364	1	0	0	0	0	1	0	0	0	9740	1609	56	3	82	3	MMP27	11	102562576	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	74912	102562576	32443940	9022	32524											
MMP10	4319	broad.mit.edu	37	chr11	102642785	102642785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccttaggctcaactcctgGaaagtcatcagctattagtc	12	11	7	11	0	3	0	3	0	0	0	5	1	4	1	2	2	3	2	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102642785G>A	ENST00000279441.4	-	9	1324	c.1288C>T	c.(1288-1290)Cca>Tca	p.P430S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	430	Hemopexin-like 3.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCAACTCCTGGAAAGTCATCA	0.393													A	102642785	G	A	102642785	3	1	364	1	0	0	0	0	1	0	0	0	9724	1174	41	2	150	2	MMP10	11	102642785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80209	102642785	32363731	9023	32525											
MMP10	4319	broad.mit.edu	37	chr11	102647349	102647349	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatcactcaccgtagaGagactgaatgccattcacat	13	8	7	13	1	3	3	3	1	0	2	3	4	3	3	3	0	2	2	3	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102647349G>T	ENST00000279441.4	-	5	817	c.781C>A	c.(781-783)Ctc>Atc	p.L261I		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	261					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TCACCGTAGAGAGACTGAATG	0.463													T	102647349	G	T	102647349	3	4	364	1	0	0	0	0	1	0	0	0	9724	942	33	4	673	4	MMP10	11	102647349	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4564	102647349	32359167	9024	32526											
MMP3	4314	broad.mit.edu	37	chr11	102709846	102709846	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatatagtaattacctttaAaaatgaaaacgaggtccttg	16	13	7	5	1	0	2	0	2	0	0	1	3	1	2	2	1	2	1	2	1	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102709846A>G	ENST00000299855.5	-	7	1320	c.1064T>C	c.(1063-1065)tTt>tCt	p.F355S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	355	Hemopexin-like 2.				collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTACCTTTAAAAATGAAAAC	0.368													G	102709846	A	G	102709846	3	3	364	1	0	0	0	0	1	0	0	0	9742	14	1	3	385	3	MMP3	11	102709846	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62497	102709846	32296670	9025	32527											
MMP3	4314	broad.mit.edu	37	chr11	102713310	102713310	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctggtgtataattcacaatCctgtaggagaaaaattgaag	15	12	9	5	0	2	2	1	1	1	1	3	3	3	2	1	2	0	2	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102713310C>T	ENST00000299855.5	-	3	607	c.351G>A	c.(349-351)agG>agA	p.R117R		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	117					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	AATTCACAATCCTGTAGGAGA	0.378													T	102713310	C	T	102713310	5	4	364	1	0	0	0	0	0	0	1	0	9742	869	30	2	1114	2	MMP3	11	102713310	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3464	102713310	32293206	9026	32528											
MMP12	4321	broad.mit.edu	37	chr11	102736573	102736574	+	RNA	INS	-	-	T																															gttaaaaacagctgcatcaaINStttttttcacaaagttagga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736573_102736574insT	ENST00000532855.1	-	0	1233_1234							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	AGCTGCATCAATTTTTTTCACA	0.366													T	102736574	-	T	102736573	6	5	364	0	1	1	1	0	0	0	0	0	9726	101	4	0		0	MMP12	11	102736573	RNA	INS	-	TCGA-DU-6392-01A-11D-1705-08	23263	102736573	32269943	9027	32529											
MMP12	4321	broad.mit.edu	37	chr11	102736621	102736621	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaatgtatgctcttgggaTaatttggctctggtcttaaa	11	15	10	5	0	3	1	0	0	3	1	3	2	3	2	0	3	1	3	0	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102736621T>C	ENST00000532855.1	-	0	1186							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GCTCTTGGGATAATTTGGCTC	0.318													C	102736621	T	C	102736621	1	2	364	0	1	0	0	0	0	0	0	0	9726	1406	49	3		3	MMP12	11	102736621	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48	102736621	32269895	9028	32530											
DCUN1D5	84259	broad.mit.edu	37	chr11	102937048	102937048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgtcctcccaagcaGaagagctaacatagatttag	13	9	9	10	0	0	3	0	0	0	3	2	3	2	3	3	1	3	2	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:102937048G>T	ENST00000260247.5	-	6	847	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	DCUN1D5_ENST00000531543.1_Missense_Mutation_p.L84M	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	169	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		CTCCCAAGCAGAAGAGCTAAC	0.333													T	102937048	G	T	102937048	3	4	364	1	0	0	0	0	1	0	0	0	4351	933	33	4	220	4	DCUN1D5	11	102937048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200427	102937048	32069468	9029	32531											
DYNC2H1	79659	broad.mit.edu	37	chr11	103018615	103018615	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgaagaagtccatacaGggtaaatacacattttaatt	15	14	6	6	0	1	2	0	1	1	1	2	2	2	2	1	1	2	1	1	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103018615G>T	ENST00000375735.2	+	19	2961	c.2817G>T	c.(2815-2817)caG>caT	p.Q939H	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Splice_Site_p.Q939H	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	939	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		AGTCCATACAGGGTAAATACA	0.274													T	103018615	G	T	103018615	5	4	364	1	0	0	0	0	0	0	1	0	4885	1014	35	4	2891	4	DYNC2H1	11	103018615	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81567	103018615	31987901	9030	32532											
DYNC2H1	79659	broad.mit.edu	37	chr11	103026221	103026221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgtagccaaagctgcCgaccttaaagtatgaatcac	15	9	7	10	1	1	1	1	1	0	0	1	2	1	1	3	0	3	3	3	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103026221C>T	ENST00000375735.2	+	25	3879	c.3735C>T	c.(3733-3735)gcC>gcT	p.A1245A	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.A1245A	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1245	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CCAAAGCTGCCGACCTTAAAG	0.348													T	103026221	C	T	103026221	2	4	364	1	0	0	0	0	0	0	0	1	4885	639	23	1		1	DYNC2H1	11	103026221	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7606	103026221	31980295	9031	32533											
DYNC2H1	79659	broad.mit.edu	37	chr11	103027235	103027235	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagacagccaaagtcgaaCtatgaagctgattaaagact	17	8	9	7	1	0	5	0	3	0	2	1	6	0	5	1	0	3	1	1	0	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103027235C>G	ENST00000375735.2	+	26	4007	c.3863C>G	c.(3862-3864)aCt>aGt	p.T1288S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T1288S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1288	Stem (By similarity).		T -> A (in dbSNP:rs17301750).		cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAAAGTCGAACTATGAAGCTG	0.358													G	103027235	C	G	103027235	3	3	364	1	0	0	0	0	1	0	0	0	4885	565	20	4	3965	4	DYNC2H1	11	103027235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1014	103027235	31979281	9032	32534											
DYNC2H1	79659	broad.mit.edu	37	chr11	103039600	103039600	+	Frame_Shift_Del	DEL	A	A	-																															caactgaagactgggcttggAaaaaacaacttagattctat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103039600delA	ENST00000375735.2	+	32	5023	c.4879delA	c.(4879-4881)aaafs	p.K1628fs	DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.K1628fs|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1628	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGGGCTTGGAAAAAACAACT	0.323													-	103039600	A	-	103039600	7	5	364	1	0	1	0	1	0	0	0	0	4885	247	9	0	5005	0	DYNC2H1	11	103039600	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	12365	103039600	31966916	9033	32535											
DYNC2H1	79659	broad.mit.edu	37	chr11	103041675	103041675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgaagtgtggggcctggGgttgttttgatgaatttaat	7	16	16	2	0	0	3	0	3	0	0	0	3	0	3	1	5	0	2	1	5	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103041675G>A	ENST00000375735.2	+	34	5356	c.5212G>A	c.(5212-5214)Ggt>Agt	p.G1738S	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.G1738S	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1738	AAA 1 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGGGCCTGGGGTTGTTTTGA	0.353													A	103041675	G	A	103041675	3	1	364	1	0	0	0	0	1	0	0	0	4885	1232	43	2	5346	2	DYNC2H1	11	103041675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2075	103041675	31964841	9034	32536											
DYNC2H1	79659	broad.mit.edu	37	chr11	103048401	103048401	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttaagggctgcgctttgTaaaactggcaaagtagtgaa	13	11	12	5	1	0	1	0	1	0	0	0	1	0	1	0	2	2	6	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048401T>C	ENST00000375735.2	+	38	6135	c.5991T>C	c.(5989-5991)tgT>tgC	p.C1997C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C1997C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1997	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGCGCTTTGTAAAACTGGCA	0.403													C	103048401	T	C	103048401	2	2	364	1	0	0	0	0	0	0	0	1	4885	1644	57	3		3	DYNC2H1	11	103048401	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6726	103048401	31958115	9035	32537											
DYNC2H1	79659	broad.mit.edu	37	chr11	103048487	103048487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccatattgacatggacaCaagagaatggtctgatggtg	13	9	13	6	0	1	3	0	2	1	1	1	5	1	4	1	4	0	0	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103048487C>T	ENST00000375735.2	+	38	6221	c.6077C>T	c.(6076-6078)aCa>aTa	p.T2026I	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2026I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2026	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GACATGGACACAAGAGAATGG	0.393													T	103048487	C	T	103048487	3	4	364	1	0	0	0	0	1	0	0	0	4885	478	17	2	6227	2	DYNC2H1	11	103048487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86	103048487	31958029	9036	32538											
DYNC2H1	79659	broad.mit.edu	37	chr11	103055642	103055642	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaatgactatgtggtagaAacaagtttggttgggactgt	12	12	13	4	0	0	3	0	1	0	2	0	4	0	4	0	3	1	3	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103055642A>T	ENST00000375735.2	+	41	6639	c.6495A>T	c.(6493-6495)gaA>gaT	p.E2165D	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.E2165D	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2165					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		ATGTGGTAGAAACAAGTTTGG	0.373													T	103055642	A	T	103055642	3	4	364	1	0	0	0	0	1	0	0	0	4885	11	1	5	6657	5	DYNC2H1	11	103055642	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7155	103055642	31950874	9037	32539											
DYNC2H1	79659	broad.mit.edu	37	chr11	103107184	103107184	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctgaggagatttctttgTactgaaagtgagcagttaat	12	14	11	4	0	2	4	0	3	2	1	2	6	2	4	0	1	2	3	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103107184T>C	ENST00000375735.2	+	63	9879	c.9735T>C	c.(9733-9735)tgT>tgC	p.C3245C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Silent_p.C3245C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3245	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GATTTCTTTGTACTGAAAGTG	0.318													C	103107184	T	C	103107184	2	2	364	1	0	0	0	0	0	0	0	1	4885	1644	57	3		3	DYNC2H1	11	103107184	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51542	103107184	31899332	9038	32540											
PDGFD	80310	broad.mit.edu	37	chr11	103870879	103870879	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagccgccatgtcaggagcaGgttcctggggtagctgttcg	7	9	15	10	2	1	0	1	0	0	0	3	1	2	1	3	4	3	5	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870879G>A	ENST00000302251.5	-	2	662	c.211C>T	c.(211-213)Ctg>Ttg	p.L71L	PDGFD_ENST00000393158.2_Silent_p.L77L	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	77	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTCAGGAGCAGGTTCCTGGGG	0.483													A	103870879	G	A	103870879	2	1	364	1	0	0	0	0	0	0	0	1	11736	991	35	2		2	PDGFD	11	103870879	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	763695	103870879	31135637	9039	32541											
PDGFD	80310	broad.mit.edu	37	chr11	103870925	103870925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaggactctgcacgtagccGtttcctttcacctggatggt	6	13	10	12	2	2	0	1	0	1	0	3	2	3	2	3	3	2	3	3	3	2	4	rs148454316	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103870925G>A	ENST00000302251.5	-	2	616	c.165C>T	c.(163-165)aaC>aaT	p.N55N	PDGFD_ENST00000393158.2_Silent_p.N61N	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	61	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GCACGTAGCCGTTTCCTTTCA	0.488													A	103870925	G	A	103870925	2	1	364	1	0	0	0	0	0	0	0	1	11736	1136	40	1		1	PDGFD	11	103870925	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46	103870925	31135591	9040	32542											
DDI1	414301	broad.mit.edu	37	chr11	103907867	103907867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcggtgcctgggacgtccaGctcccgtccacagcaccctg	5	7	12	17	3	0	0	0	0	0	0	3	1	3	1	5	2	4	2	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103907867G>A	ENST00000302259.3	+	1	560	c.317G>A	c.(316-318)aGc>aAc	p.S106N	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	106					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGGACGTCCAGCTCCCGTCCA	0.652													A	103907867	G	A	103907867	3	1	364	1	0	0	0	0	1	0	0	0	4362	971	34	2	319	2	DDI1	11	103907867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36942	103907867	31098649	9041	32543											
DDI1	414301	broad.mit.edu	37	chr11	103908442	103908442	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggagtgggcacacagagaAttattggccgtgttcatcta	12	10	12	7	1	2	1	1	0	1	1	2	3	2	2	1	3	0	2	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:103908442A>T	ENST00000302259.3	+	1	1135	c.892A>T	c.(892-894)Att>Ttt	p.I298F	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	298					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CACACAGAGAATTATTGGCCG	0.488													T	103908442	A	T	103908442	3	4	364	1	0	0	0	0	1	0	0	0	4362	101	4	5	894	5	DDI1	11	103908442	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	575	103908442	31098074	9042	32544											
CASP4	837	broad.mit.edu	37	chr11	104819404	104819404	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagttccccacggtttgCtatggagacattaactttct	9	13	7	12	1	1	1	0	0	1	1	2	2	2	1	3	2	2	3	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104819404C>A	ENST00000444739.2	-	6	1692		c.e6-1		CASP4_ENST00000393150.3_Splice_Site	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase						apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		CCACGGTTTGCTATGGAGACA	0.473													A	104819404	C	A	104819404	5	1	364	1	0	0	0	0	0	0	1	0	2699	811	28	4	364	4	CASP4	11	104819404	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	910962	104819404	30187112	9043	32545											
CASP5	838	broad.mit.edu	37	chr11	104869616	104869616	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaaaagacacatacgtggTgttgaagaacagaaagcaat	19	7	9	6	1	0	4	0	1	0	3	0	4	0	4	0	1	3	2	0	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104869616T>C	ENST00000393141.2	-	7	1162	c.1131A>G	c.(1129-1131)acA>acG	p.T377T	CASP5_ENST00000393139.2_3'UTR|CASP5_ENST00000526056.1_Silent_p.T377T|CASP5_ENST00000260315.3_Silent_p.T364T|CASP5_ENST00000418434.1_Silent_p.T222T|CASP5_ENST00000444749.2_Silent_p.T306T|CASP5_ENST00000531367.1_Silent_p.T222T	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	364					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		ACATACGTGGTGTTGAAGAAC	0.443													C	104869616	T	C	104869616	2	2	364	1	0	0	0	0	0	0	0	1	2700	1683	59	3		3	CASP5	11	104869616	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50212	104869616	30136900	9044	32546											
CASP5	838	broad.mit.edu	37	chr11	104874010	104874011	+	Frame_Shift_Ins	INS	-	-	T																															agcacagcacctcatcatgaINSttttttttacacagtctcag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104874010_104874011insT	ENST00000393141.2	-	4	603_604	c.572_573insA	c.(571-573)aatfs	p.N191fs	CASP5_ENST00000418434.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000393139.2_Intron|CASP5_ENST00000526056.1_Frame_Shift_Ins_p.N191fs|CASP5_ENST00000531367.1_Frame_Shift_Ins_p.N36fs|CASP5_ENST00000260315.3_Frame_Shift_Ins_p.N178fs|CASP5_ENST00000444749.2_Frame_Shift_Ins_p.N120fs	NM_001136112.1|NM_004347.3	NP_001129584.1|NP_004338.3	P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	178					apoptosis|cellular response to mechanical stimulus|proteolysis|regulation of apoptosis	intracellular	cysteine-type endopeptidase activity|protein binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		CCTCATCATGATTTTTTTTACA	0.401													T	104874011	-	T	104874010	7	5	364	1	0	1	1	0	0	0	0	0	2700	330	12	0	794	0	CASP5	11	104874010	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4394	104874010	30132506	9045	32547											
CASP1	834	broad.mit.edu	37	chr11	104897026	104897026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacatcttgtcaaagtcaCtctttcagtggtgggcatct	10	13	9	9	0	6	0	3	0	3	0	6	1	6	0	0	2	1	1	0	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897026C>T	ENST00000533400.1	-	9	1209	c.1174G>A	c.(1174-1176)Gtg>Atg	p.V392M	CASP1_ENST00000446369.1_Missense_Mutation_p.V251M|CASP1_ENST00000598974.1_Missense_Mutation_p.V392M|CASP1_ENST00000525825.1_Missense_Mutation_p.V371M|CASP1_ENST00000436863.3_Missense_Mutation_p.V392M|CASP1_ENST00000593315.1_Missense_Mutation_p.V371M|CASP1_ENST00000527979.1_Missense_Mutation_p.V355M|CASP1_ENST00000526568.1_Missense_Mutation_p.V299M|CASP1_ENST00000534497.1_Missense_Mutation_p.V251M|CASP1_ENST00000594519.1_Missense_Mutation_p.V251M|CASP1_ENST00000531166.1_Missense_Mutation_p.V76M|CASP1_ENST00000353247.5_Missense_Mutation_p.V76M|CASP1_ENST00000415981.2_Missense_Mutation_p.V76M|CASP1_ENST00000393136.4_Missense_Mutation_p.V371M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	392					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GTCAAAGTCACTCTTTCAGTG	0.443													T	104897026	C	T	104897026	3	4	364	1	0	0	0	0	1	0	0	0	2694	565	20	2	44	2	CASP1	11	104897026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23016	104897026	30109490	9046	32548											
CASP1	834	broad.mit.edu	37	chr11	104897599	104897599	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcctccacatcacaggaAcaggcatattcttgcatatg	12	12	6	11	0	2	0	1	0	1	0	4	1	4	1	2	2	2	2	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104897599A>G	ENST00000533400.1	-	8	1121	c.1086T>C	c.(1084-1086)tgT>tgC	p.C362C	CASP1_ENST00000446369.1_Silent_p.C221C|CASP1_ENST00000528974.1_3'UTR|CASP1_ENST00000598974.1_Silent_p.C362C|CASP1_ENST00000525825.1_Silent_p.C341C|CASP1_ENST00000436863.3_Silent_p.C362C|CASP1_ENST00000593315.1_Silent_p.C341C|CASP1_ENST00000527979.1_Silent_p.C325C|CASP1_ENST00000526568.1_Silent_p.C269C|CASP1_ENST00000534497.1_Silent_p.C221C|CASP1_ENST00000594519.1_Silent_p.C221C|CASP1_ENST00000531166.1_Silent_p.C46C|CASP1_ENST00000353247.5_Silent_p.C46C|CASP1_ENST00000415981.2_Silent_p.C46C|CASP1_ENST00000393136.4_Silent_p.C341C	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	362					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CATCACAGGAACAGGCATATT	0.398													G	104897599	A	G	104897599	2	3	364	1	0	0	0	0	0	0	0	1	2694	41	2	3		3	CASP1	11	104897599	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	573	104897599	30108917	9047	32549											
CASP1	834	broad.mit.edu	37	chr11	104900497	104900497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgagttgtagtatatctgGgacttgctcagagtgtttct	8	17	11	5	0	3	2	1	1	2	1	3	3	3	3	0	1	1	5	0	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900497G>T	ENST00000533400.1	-	6	792	c.757C>A	c.(757-759)Cca>Aca	p.P253T	CASP1_ENST00000446369.1_Missense_Mutation_p.P160T|CASP1_ENST00000528974.1_Missense_Mutation_p.P214T|CASP1_ENST00000598974.1_Missense_Mutation_p.P253T|CASP1_ENST00000525825.1_Missense_Mutation_p.P232T|CASP1_ENST00000436863.3_Missense_Mutation_p.P253T|CASP1_ENST00000593315.1_Missense_Mutation_p.P232T|CASP1_ENST00000527979.1_Missense_Mutation_p.P216T|CASP1_ENST00000526568.1_Missense_Mutation_p.P160T|CASP1_ENST00000534497.1_Missense_Mutation_p.P160T|CASP1_ENST00000594519.1_Missense_Mutation_p.P160T|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.P232T	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	253					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	AGTATATCTGGGACTTGCTCA	0.478													T	104900497	G	T	104900497	3	4	364	1	0	0	0	0	1	0	0	0	2694	1232	43	4	473	4	CASP1	11	104900497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2898	104900497	30106019	9048	32550											
CASP1	834	broad.mit.edu	37	chr11	104900565	104900565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacatgaacaccaggaacGtgctgtcagaggtcttgtgc	11	8	13	9	1	2	3	1	1	1	2	2	5	2	4	1	2	4	1	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:104900565G>A	ENST00000533400.1	-	6	724	c.689C>T	c.(688-690)aCg>aTg	p.T230M	CASP1_ENST00000446369.1_Missense_Mutation_p.T137M|CASP1_ENST00000528974.1_Missense_Mutation_p.T191M|CASP1_ENST00000598974.1_Missense_Mutation_p.T230M|CASP1_ENST00000525825.1_Missense_Mutation_p.T209M|CASP1_ENST00000436863.3_Missense_Mutation_p.T230M|CASP1_ENST00000593315.1_Missense_Mutation_p.T209M|CASP1_ENST00000527979.1_Missense_Mutation_p.T193M|CASP1_ENST00000526568.1_Missense_Mutation_p.T137M|CASP1_ENST00000534497.1_Missense_Mutation_p.T137M|CASP1_ENST00000594519.1_Missense_Mutation_p.T137M|CASP1_ENST00000531166.1_Intron|CASP1_ENST00000353247.5_Intron|CASP1_ENST00000415981.2_Intron|CASP1_ENST00000393136.4_Missense_Mutation_p.T209M	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	230					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	CACCAGGAACGTGCTGTCAGA	0.453													A	104900565	G	A	104900565	3	1	364	1	0	0	0	0	1	0	0	0	2694	1145	40	1	541	1	CASP1	11	104900565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68	104900565	30105951	9049	32551											
GRIA4	2893	broad.mit.edu	37	chr11	105623793	105623793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacctcattctgcagcGccttacatatctccctcatc	7	13	4	17	1	4	1	2	1	2	0	6	1	4	1	4	0	3	1	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105623793G>A	ENST00000393127.2	+	4	780	c.334G>A	c.(334-336)Gcc>Acc	p.A112T	GRIA4_ENST00000393125.2_Missense_Mutation_p.A112T|GRIA4_ENST00000525187.1_Missense_Mutation_p.A112T|GRIA4_ENST00000428631.2_Missense_Mutation_p.A112T|GRIA4_ENST00000282499.5_Missense_Mutation_p.A112T|GRIA4_ENST00000530497.1_Missense_Mutation_p.A112T	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	112					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	ATTCTGCAGCGCCTTACATAT	0.463													A	105623793	G	A	105623793	3	1	364	1	0	0	0	0	1	0	0	0	6825	1087	38	1	344	1	GRIA4	11	105623793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	723228	105623793	29382723	9050	32552											
GRIA4	2893	broad.mit.edu	37	chr11	105845055	105845055	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaagacgagtgccttgAgcctgagcaatgtagcaggc	12	6	14	9	1	0	3	0	2	0	1	0	5	0	4	2	2	4	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105845055A>T	ENST00000393127.2	+	16	2874	c.2428A>T	c.(2428-2430)Agc>Tgc	p.S810C	GRIA4_ENST00000525187.1_Missense_Mutation_p.S810C|GRIA4_ENST00000282499.5_Missense_Mutation_p.S810C|GRIA4_ENST00000533094.1_3'UTR|GRIA4_ENST00000530497.1_Missense_Mutation_p.S810C	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	810					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GAGTGCCTTGAGCCTGAGCAA	0.473													T	105845055	A	T	105845055	3	4	364	1	0	0	0	0	1	0	0	0	6825	304	11	5	2642	5	GRIA4	11	105845055	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	221262	105845055	29161461	9051	32553											
KBTBD3	143879	broad.mit.edu	37	chr11	105929784	105929784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattccattacatgtgcttCgttgattgaaagcatatgaa	13	14	8	6	1	0	3	0	3	0	0	2	4	1	3	1	0	3	3	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:105929784C>T	ENST00000526793.1	-	2	200	c.41G>A	c.(40-42)cGa>cAa	p.R14Q	KBTBD3_ENST00000531837.1_Missense_Mutation_p.R14Q|KBTBD3_ENST00000531482.2_Missense_Mutation_p.R14Q|KBTBD3_ENST00000534815.1_Intron	NM_152433.3	NP_689646.2	Q8NAB2	KBTB3_HUMAN	kelch repeat and BTB (POZ) domain containing 3	10										NS(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	25		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.43e-05)|Epithelial(105;0.00418)|all cancers(92;0.0299)		ACATGTGCTTCGTTGATTGAA	0.328													T	105929784	C	T	105929784	3	4	364	1	0	0	0	0	1	0	0	0	8052	884	31	1	1805	1	KBTBD3	11	105929784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84729	105929784	29076732	9052	32554											
GUCY1A2	2977	broad.mit.edu	37	chr11	106849401	106849401	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcttcaatttcttctttgTtggagtggtctgcataggag	7	17	10	7	0	5	0	1	0	4	0	5	2	5	2	0	3	1	2	0	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:106849401T>G	ENST00000526355.2	-	3	899	c.431A>C	c.(430-432)aAc>aCc	p.N144T	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.N144T|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.N144T	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2						intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		TTCTTCTTTGTTGGAGTGGTC	0.328													G	106849401	T	G	106849401	3	3	364	1	0	0	0	0	1	0	0	0	6948	1725	60	5	1791	5	GUCY1A2	11	106849401	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	919617	106849401	28157115	9053	32555											
CWF19L2	143884	broad.mit.edu	37	chr11	107299983	107299983	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttttcattattgctattTtttgcagtatctgttgtagc	8	22	6	5	0	2	0	1	0	1	0	2	0	2	0	0	0	3	5	0	0	5	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107299983T>C	ENST00000282251.5	-	8	1002	c.975A>G	c.(973-975)aaA>aaG	p.K325K	CWF19L2_ENST00000433523.1_Silent_p.K325K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	325							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TATTGCTATTTTTTGCAGTAT	0.323													C	107299983	T	C	107299983	2	2	364	1	0	0	0	0	0	0	0	1	4105	1838	64	3		3	CWF19L2	11	107299983	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	450582	107299983	27706533	9054	32556											
ELMOD1	55531	broad.mit.edu	37	chr11	107518236	107518236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactccactggaatctcggAtttctaagcagtggtgtgaa	11	12	10	8	1	2	1	0	1	2	0	4	3	3	3	1	3	2	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107518236A>G	ENST00000265840.7	+	7	728	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ELMOD1_ENST00000443271.2_Missense_Mutation_p.I155V|ELMOD1_ENST00000531234.1_Missense_Mutation_p.I149V	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	155	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GGAATCTCGGATTTCTAAGCA	0.388													G	107518236	A	G	107518236	3	3	364	1	0	0	0	0	1	0	0	0	5109	333	12	3	485	3	ELMOD1	11	107518236	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	218253	107518236	27488280	9055	32557											
ELMOD1	55531	broad.mit.edu	37	chr11	107526696	107526696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcatcaatataactgacCtggcatataatctactggtc	12	12	8	9	0	2	1	1	1	1	0	3	1	2	1	1	3	2	2	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107526696C>A	ENST00000265840.7	+	11	1001	c.736C>A	c.(736-738)Ctg>Atg	p.L246M	ELMOD1_ENST00000443271.2_Missense_Mutation_p.L238M|ELMOD1_ENST00000531234.1_Missense_Mutation_p.L240M	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	246	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		TATAACTGACCTGGCATATAA	0.378													A	107526696	C	A	107526696	3	1	364	1	0	0	0	0	1	0	0	0	5109	680	24	4	774	4	ELMOD1	11	107526696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8460	107526696	27479820	9056	32558											
SLC35F2	54733	broad.mit.edu	37	chr11	107673881	107673881	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaatgccacgaacagcaggGctgtggaaaaaaacatggaa	18	4	11	8	1	0	0	0	0	0	0	0	3	0	2	1	3	4	2	1	3	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107673881G>A	ENST00000525071.1	-	10	1373	c.785C>T	c.(784-786)gCc>gTc	p.A262V	SLC35F2_ENST00000375682.4_Splice_Site_p.A215V|SLC35F2_ENST00000429869.1_Splice_Site_p.A262V|SLC35F2_ENST00000525815.1_Splice_Site_p.A262V|SLC35F2_ENST00000265836.7_Splice_Site_p.A114V			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	262					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		GAACAGCAGGGCTGTGGAAAA	0.428													A	107673881	G	A	107673881	5	1	364	1	0	0	0	0	0	0	1	0	14683	1217	42	2	347	2	SLC35F2	11	107673881	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147185	107673881	27332635	9057	32559											
SLC35F2	54733	broad.mit.edu	37	chr11	107677491	107677491	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcaccaaccatggttcCtacacccaacagacagacag	13	6	7	15	0	1	2	0	0	1	2	2	2	2	2	4	1	4	2	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107677491C>A	ENST00000525071.1	-	7	1114	c.526G>T	c.(526-528)Gga>Tga	p.G176*	SLC35F2_ENST00000375682.4_Nonsense_Mutation_p.G129*|SLC35F2_ENST00000429869.1_Nonsense_Mutation_p.G176*|SLC35F2_ENST00000525815.1_Nonsense_Mutation_p.G176*|SLC35F2_ENST00000265836.7_Nonsense_Mutation_p.G28*			Q8IXU6	S35F2_HUMAN	solute carrier family 35, member F2	176					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(61;9.46e-06)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;0.000111)|all_hematologic(158;0.000315)|all_epithelial(67;0.00197)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)|Epithelial(105;0.000105)|all cancers(92;0.00217)		ACCATGGTTCCTACACCCAAC	0.458													A	107677491	C	A	107677491	4	1	364	1	0	0	0	0	0	1	0	0	14683	690	24	4	618	4	SLC35F2	11	107677491	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3610	107677491	27329025	9058	32560											
CUL5	8065	broad.mit.edu	37	chr11	107944222	107944222	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttcttactgcaagagatAaggtatatattcctatatat	14	16	6	5	0	1	1	0	0	1	1	2	3	2	1	1	1	2	2	1	1	9	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107944222A>G	ENST00000393094.2	+	10	1727	c.1111A>G	c.(1111-1113)Aag>Gag	p.K371E	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	371					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		TGCAAGAGATAAGGTATATAT	0.239													G	107944222	A	G	107944222	3	3	364	1	0	0	0	0	1	0	0	0	4092	363	13	3	1149	3	CUL5	11	107944222	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	266731	107944222	27062294	9059	32561											
CUL5	8065	broad.mit.edu	37	chr11	107965640	107965640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aactggaggacttgataccgGaagtagaagaattctacaaa	17	8	10	6	1	1	3	0	1	1	2	1	6	1	6	1	3	3	1	1	3	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:107965640G>A	ENST00000393094.2	+	15	2285	c.1669G>A	c.(1669-1671)Gaa>Aaa	p.E557K		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	557					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		CTTGATACCGGAAGTAGAAGA	0.348													A	107965640	G	A	107965640	3	1	364	1	0	0	0	0	1	0	0	0	4092	1175	41	2	1727	2	CUL5	11	107965640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21418	107965640	27040876	9060	32562											
NPAT	4863	broad.mit.edu	37	chr11	108047023	108047023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctagattagtttcatctGctaagactatactgggattg	10	15	9	7	0	2	2	1	0	1	2	2	3	2	3	0	1	3	3	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108047023G>A	ENST00000278612.8	-	12	1187	c.1082C>T	c.(1081-1083)gCa>gTa	p.A361V	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	361					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AGTTTCATCTGCTAAGACTAT	0.289													A	108047023	G	A	108047023	3	1	364	1	0	0	0	0	1	0	0	0	10642	1319	46	2	3229	2	NPAT	11	108047023	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81383	108047023	26959493	9061	32563											
NPAT	4863	broad.mit.edu	37	chr11	108059858	108059858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtatcttgtgactgtgaGtggttgaccactacaaaata	13	12	9	7	0	1	3	0	3	1	0	1	3	1	3	1	1	1	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108059858G>A	ENST00000278612.8	-	6	636	c.531C>T	c.(529-531)caC>caT	p.H177H	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	177	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GTGACTGTGAGTGGTTGACCA	0.368													A	108059858	G	A	108059858	2	1	364	1	0	0	0	0	0	0	0	1	10642	1020	36	2		2	NPAT	11	108059858	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12835	108059858	26946658	9062	32564											
NPAT	4863	broad.mit.edu	37	chr11	108061207	108061207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgactgccagcaaacCttggggaactttgcatgctc	8	11	9	13	0	1	1	0	1	1	0	3	2	1	2	2	2	6	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108061207C>A	ENST00000278612.8	-	5	416	c.311G>T	c.(310-312)aGg>aTg	p.R104M	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	104	Interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		GCCAGCAAACCTTGGGGAACT	0.348													A	108061207	C	A	108061207	3	1	364	1	0	0	0	0	1	0	0	0	10642	681	24	4	4028	4	NPAT	11	108061207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1349	108061207	26945309	9063	32565											
NPAT	4863	broad.mit.edu	37	chr11	108068110	108068110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaactttccaaaataaaagtCtggcaggtagaaatgaggtt	16	10	10	5	0	1	2	0	1	1	1	2	3	2	2	1	3	1	3	1	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108068110C>T	ENST00000278612.8	-	2	180	c.75G>A	c.(73-75)caG>caA	p.Q25Q	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	25	Interaction with MIZF.|LisH.|Required for activation of histone gene transcription and interaction with MIZF.				positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		AAATAAAAGTCTGGCAGGTAG	0.313													T	108068110	C	T	108068110	2	4	364	1	0	0	0	0	0	0	0	1	10642	912	32	2		2	NPAT	11	108068110	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6903	108068110	26938406	9064	32566											
ATM	472	broad.mit.edu	37	chr11	108121490	108121490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctaactgtgagctgtCtccattactgatgatactat	10	16	6	9	0	1	3	0	3	1	0	2	3	1	3	2	0	5	1	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108121490C>A	ENST00000278616.4	+	10	1683	c.1298C>A	c.(1297-1299)tCt>tAt	p.S433Y	ATM_ENST00000452508.2_Missense_Mutation_p.S433Y	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	433					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TGTGAGCTGTCTCCATTACTG	0.383			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A	108121490	C	A	108121490	3	1	364	1	0	0	0	0	1	0	0	0	1114	913	32	4	1332	4	ATM	11	108121490	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53380	108121490	26885026	9065	32567											
ATM	472	broad.mit.edu	37	chr11	108122575	108122575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgttatagtcctgcagtatGctgtttgactttggcactga	7	17	10	7	0	0	2	0	2	0	0	1	2	1	2	1	1	2	6	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108122575G>A	ENST00000278616.4	+	11	2004	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	ATM_ENST00000452508.2_Missense_Mutation_p.C540Y	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	540			C -> Y (in a colorectal adenocarcinoma sample; somatic mutation).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.C540Y(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		CCTGCAGTATGCTGTTTGACT	0.388			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A	108122575	G	A	108122575	3	1	364	1	0	0	0	0	1	0	0	0	1114	1319	46	2	1657	2	ATM	11	108122575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1085	108122575	26883941	9066	32568											
ATM	472	broad.mit.edu	37	chr11	108153589	108153589	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttattaaactacacaaaTattgaggatttctataggta	16	16	5	4	0	1	1	0	1	1	0	1	2	1	2	0	2	2	1	0	2	9	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108153589T>C	ENST00000278616.4	+	25	4114	c.3729T>C	c.(3727-3729)aaT>aaC	p.N1243N	ATM_ENST00000452508.2_Silent_p.N1243N	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1243					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.N1240fs*4(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		ACTACACAAATATTGAGGATT	0.289			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			C	108153589	T	C	108153589	2	2	364	1	0	0	0	0	0	0	0	1	1114	1403	49	3		3	ATM	11	108153589	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31014	108153589	26852927	9067	32569											
ATM	472	broad.mit.edu	37	chr11	108163424	108163424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggtttgccagacagcCgtgacttactgtaaggatgc	10	10	12	9	1	1	2	1	1	0	1	1	3	1	3	2	2	4	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163424C>T	ENST00000278616.4	+	30	4900	c.4515C>T	c.(4513-4515)gcC>gcT	p.A1505A	ATM_ENST00000452508.2_Silent_p.A1505A	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1505					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GCCAGACAGCCGTGACTTACT	0.403			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			T	108163424	C	T	108163424	2	4	364	1	0	0	0	0	0	0	0	1	1114	639	23	1		1	ATM	11	108163424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9835	108163424	26843092	9068	32570											
ATM	472	broad.mit.edu	37	chr11	108163493	108163493	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtacacttataccccttgtGtatgagcaggtggaggttca	9	12	12	8	0	1	1	1	1	0	0	1	2	1	2	2	4	3	4	2	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108163493G>A	ENST00000278616.4	+	30	4969	c.4584G>A	c.(4582-4584)gtG>gtA	p.V1528V	ATM_ENST00000452508.2_Silent_p.V1528V	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1528					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		TACCCCTTGTGTATGAGCAGG	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A	108163493	G	A	108163493	2	1	364	1	0	0	0	0	0	0	0	1	1114	1364	48	2		2	ATM	11	108163493	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	108163493	26843023	9069	32571											
ATM	472	broad.mit.edu	37	chr11	108165730	108165730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaggactaaaggatcttcGaagacaactggaactacata	17	8	9	7	1	1	2	0	1	1	1	2	6	1	5	0	3	3	0	0	3	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108165730G>A	ENST00000278616.4	+	32	5238	c.4853G>A	c.(4852-4854)cGa>cAa	p.R1618Q	ATM_ENST00000452508.2_Missense_Mutation_p.R1618Q	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1618					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	p.E1612_Q1620>*(1)		NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAGGATCTTCGAAGACAACTG	0.358			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A	108165730	G	A	108165730	3	1	364	1	0	0	0	0	1	0	0	0	1114	1058	37	1	4975	1	ATM	11	108165730	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2237	108165730	26840786	9070	32572											
ATM	472	broad.mit.edu	37	chr11	108175415	108175415	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctaggtgaaaactgactTttgtcagactgtacttccat	11	15	7	8	0	2	3	1	2	1	1	3	3	3	3	1	1	2	1	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108175415T>G	ENST00000278616.4	+	37	5895	c.5510T>G	c.(5509-5511)tTt>tGt	p.F1837C	ATM_ENST00000452508.2_Missense_Mutation_p.F1837C	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1837					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AAAACTGACTTTTGTCAGACT	0.313			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G	108175415	T	G	108175415	3	3	364	1	0	0	0	0	1	0	0	0	1114	1841	64	5	5652	5	ATM	11	108175415	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9685	108175415	26831101	9071	32573											
ATM	472	broad.mit.edu	37	chr11	108216544	108216544	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaattttcaaccagttttCcgttacttctgcatggaaaa	13	14	5	9	1	2	0	1	0	1	0	3	1	3	1	2	1	3	3	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108216544C>A	ENST00000278616.4	+	58	8878	c.8493C>A	c.(8491-8493)ttC>ttA	p.F2831L	C11orf65_ENST00000526725.1_Intron|ATM_ENST00000452508.2_Missense_Mutation_p.F2831L|C11orf65_ENST00000525729.1_Intron	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	2831	PI3K/PI4K.				cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AACCAGTTTTCCGTTACTTCT	0.343			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A	108216544	C	A	108216544	3	1	364	1	0	0	0	0	1	0	0	0	1114	854	30	4	8719	4	ATM	11	108216544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41129	108216544	26789972	9072	32574											
EXPH5	23086	broad.mit.edu	37	chr11	108381794	108381794	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctctgccttccctaggCtgtgatccactggagccatc	5	11	8	17	0	1	1	0	1	1	0	5	2	4	2	6	2	2	1	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108381794C>T	ENST00000265843.4	-	6	4550	c.4440G>A	c.(4438-4440)caG>caA	p.Q1480Q	EXPH5_ENST00000428840.1_Silent_p.Q1404Q|EXPH5_ENST00000443411.1_Silent_p.Q1292Q|EXPH5_ENST00000525344.1_Silent_p.Q1473Q	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1480					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CTTCCCTAGGCTGTGATCCAC	0.483													T	108381794	C	T	108381794	2	4	364	1	0	0	0	0	0	0	0	1	5364	796	28	2		2	EXPH5	11	108381794	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165250	108381794	26624722	9073	32575											
EXPH5	23086	broad.mit.edu	37	chr11	108382390	108382390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtttcagtctccacttgagGtgattctataagtaaattag	11	16	8	6	0	3	2	1	2	2	0	4	2	3	2	1	1	0	2	1	1	5	7	rs146263472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108382390G>T	ENST00000265843.4	-	6	3954	c.3844C>A	c.(3844-3846)Cct>Act	p.P1282T	EXPH5_ENST00000428840.1_Missense_Mutation_p.P1206T|EXPH5_ENST00000443411.1_Missense_Mutation_p.P1094T|EXPH5_ENST00000525344.1_Missense_Mutation_p.P1275T	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1282					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCCACTTGAGGTGATTCTATA	0.358													T	108382390	G	T	108382390	3	4	364	1	0	0	0	0	1	0	0	0	5364	1261	44	4	2129	4	EXPH5	11	108382390	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	596	108382390	26624126	9074	32576											
EXPH5	23086	broad.mit.edu	37	chr11	108409862	108409862	+	Frame_Shift_Del	DEL	T	T	-																															gggaagaaaaaggtgtcggcTttttttgattagttacattt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108409862delT	ENST00000265843.4	-	3	442	c.332delA	c.(331-333)aagfs	p.K111fs	EXPH5_ENST00000525344.1_Frame_Shift_Del_p.K104fs|EXPH5_ENST00000428840.1_Frame_Shift_Del_p.K35fs	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	111					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AGGTGTCGGCTTTTTTTGATT	0.348													-	108409862	T	-	108409862	7	5	364	1	0	1	0	1	0	0	0	0	5364	1609	56	0	5653	0	EXPH5	11	108409862	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	27472	108409862	26596654	9075	32577											
DDX10	1662	broad.mit.edu	37	chr11	108547831	108547831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctggaagccttatatcGtctgcaatggacttcaacag	10	11	11	9	1	2	0	1	0	1	0	3	2	2	2	1	3	4	2	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108547831G>A	ENST00000526794.1	+	4	430	c.398G>A	c.(397-399)cGt>cAt	p.R133H	DDX10_ENST00000322536.3_Missense_Mutation_p.R133H			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	133	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		GCCTTATATCGTCTGCAATGG	0.453			T	NUP98	AML*								A	108547831	G	A	108547831	3	1	364	1	0	0	0	0	1	0	0	0	4376	1145	40	1	412	1	DDX10	11	108547831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137969	108547831	26458685	9076	32578											
DDX10	1662	broad.mit.edu	37	chr11	108559743	108559743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtattcctttttgagaaGccatctgaagaagaagagca	13	11	10	7	0	1	5	0	2	1	4	2	6	2	5	2	0	2	3	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108559743G>A	ENST00000526794.1	+	7	961	c.929G>A	c.(928-930)aGc>aAc	p.S310N	DDX10_ENST00000322536.3_Missense_Mutation_p.S310N			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	310	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		TTTTTGAGAAGCCATCTGAAG	0.388			T	NUP98	AML*								A	108559743	G	A	108559743	3	1	364	1	0	0	0	0	1	0	0	0	4376	971	34	2	955	2	DDX10	11	108559743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11912	108559743	26446773	9077	32579											
DDX10	1662	broad.mit.edu	37	chr11	108594046	108594046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctcaagccccatctcttCctaacaccagtgaggcacag	11	8	7	15	0	2	1	1	1	2	0	5	2	3	1	4	1	2	1	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:108594046C>T	ENST00000526794.1	+	13	1854	c.1822C>T	c.(1822-1824)Cct>Tct	p.P608S	DDX10_ENST00000322536.3_Missense_Mutation_p.P608S			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	608							ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity	p.E594_E618del(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CCCATCTCTTCCTAACACCAG	0.433			T	NUP98	AML*								T	108594046	C	T	108594046	3	4	364	1	0	0	0	0	1	0	0	0	4376	855	30	2	1872	2	DDX10	11	108594046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34303	108594046	26412470	9078	32580											
ZC3H12C	85463	broad.mit.edu	37	chr11	110023742	110023742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattacagtttttgttcctgCttggaggaaagagcaatccc	10	13	9	9	0	0	1	0	0	0	1	2	3	2	3	2	2	3	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110023742C>T	ENST00000453089.2	+	2	1660	c.779C>T	c.(778-780)gCt>gTt	p.A260V	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.A291V|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.A292V			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	291							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TTTGTTCCTGCTTGGAGGAAA	0.438													T	110023742	C	T	110023742	3	4	364	1	0	0	0	0	1	0	0	0	17664	797	28	2	882	2	ZC3H12C	11	110023742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1429696	110023742	24982774	9079	32581											
ZC3H12C	85463	broad.mit.edu	37	chr11	110030072	110030072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagagtggtgtgctatgaCgacaggttcatcgtgaagct	10	10	15	6	2	1	3	1	2	0	1	2	5	1	3	0	3	2	3	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110030072C>T	ENST00000453089.2	+	3	1793	c.912C>T	c.(910-912)gaC>gaT	p.D304D	ZC3H12C_ENST00000278590.3_Silent_p.D335D|ZC3H12C_ENST00000528673.1_Silent_p.D336D			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	335							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		TGTGCTATGACGACAGGTTCA	0.473													T	110030072	C	T	110030072	2	4	364	1	0	0	0	0	0	0	0	1	17664	535	19	1		1	ZC3H12C	11	110030072	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6330	110030072	24976444	9080	32582											
ZC3H12C	85463	broad.mit.edu	37	chr11	110035300	110035300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagatccaagcataaggaCacaagtctaccaagacctag	17	6	7	11	0	2	2	1	0	1	2	3	3	3	3	3	1	2	1	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110035300C>T	ENST00000453089.2	+	5	2278	c.1397C>T	c.(1396-1398)aCa>aTa	p.T466I	ZC3H12C_ENST00000278590.3_Missense_Mutation_p.T497I|ZC3H12C_ENST00000528673.1_Missense_Mutation_p.T498I			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	497							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		AGCATAAGGACACAAGTCTAC	0.453													T	110035300	C	T	110035300	3	4	364	1	0	0	0	0	1	0	0	0	17664	478	17	2	1512	2	ZC3H12C	11	110035300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5228	110035300	24971216	9081	32583											
RDX	5962	broad.mit.edu	37	chr11	110102601	110102601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaataacagctctcacattGcttcaaactcatcgatacgc	15	10	4	12	2	3	0	3	0	1	0	5	1	3	0	0	0	5	2	0	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110102601G>A	ENST00000343115.4	-	14	2064	c.1745C>T	c.(1744-1746)gCa>gTa	p.A582V	RDX_ENST00000528900.1_Missense_Mutation_p.A235V|RDX_ENST00000528498.1_Missense_Mutation_p.A582V|RDX_ENST00000530301.1_Missense_Mutation_p.A178V|RDX_ENST00000405097.1_Missense_Mutation_p.A582V|RDX_ENST00000544551.1_Missense_Mutation_p.A446V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	582					actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTCTCACATTGCTTCAAACTC	0.428													A	110102601	G	A	110102601	3	1	364	1	0	0	0	0	1	0	0	0	13286	1319	46	2	10	2	RDX	11	110102601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67301	110102601	24903915	9082	32584											
RDX	5962	broad.mit.edu	37	chr11	110124681	110124681	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccccatacctttccaactGcttctgatgtttctcctccc	7	14	3	17	0	2	1	0	1	2	0	5	1	4	1	6	0	4	2	6	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124681G>A	ENST00000343115.4	-	9	1268	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Nonsense_Mutation_p.Q317*|RDX_ENST00000544551.1_Nonsense_Mutation_p.Q181*	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	317	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		CTTTCCAACTGCTTCTGATGT	0.373													A	110124681	G	A	110124681	4	1	364	1	0	0	0	0	0	1	0	0	13286	1328	46	2	826	2	RDX	11	110124681	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22080	110124681	24881835	9083	32585											
RDX	5962	broad.mit.edu	37	chr11	110124812	110124812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcttattgattctcagaCgaggtgcataaaacacaaaa	15	10	7	9	2	1	2	1	1	1	1	3	3	2	2	1	1	2	2	1	1	5	4	rs142346566	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110124812C>T	ENST00000343115.4	-	9	1137	c.818G>A	c.(817-819)cGt>cAt	p.R273H	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.R273H|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.R273H|RDX_ENST00000544551.1_Missense_Mutation_p.R137H	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	273	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GATTCTCAGACGAGGTGCATA	0.343													T	110124812	C	T	110124812	3	4	364	1	0	0	0	0	1	0	0	0	13286	536	19	1	957	1	RDX	11	110124812	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131	110124812	24881704	9084	32586											
RDX	5962	broad.mit.edu	37	chr11	110128576	110128576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttattttttatttcaaaaTagttgactccatacatttct	11	22	2	6	0	2	1	1	1	1	0	3	1	3	1	1	0	1	1	1	0	6	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110128576T>C	ENST00000343115.4	-	7	933	c.614A>G	c.(613-615)tAt>tGt	p.Y205C	RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Missense_Mutation_p.Y205C|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.Y205C|RDX_ENST00000544551.1_Missense_Mutation_p.Y69C	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	205	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TATTTCAAAATAGTTGACTCC	0.313													C	110128576	T	C	110128576	3	2	364	1	0	0	0	0	1	0	0	0	13286	1406	49	3	1169	3	RDX	11	110128576	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3764	110128576	24877940	9085	32587											
ARHGAP20	57569	broad.mit.edu	37	chr11	110450366	110450366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggctgactgcacaggggAcagtccttcagctgccctta	7	10	12	12	0	1	1	1	1	0	0	2	2	2	2	2	3	3	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110450366A>G	ENST00000260283.4	-	16	3588	c.3304T>C	c.(3304-3306)Tcc>Ccc	p.S1102P	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S1079P|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S645P|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S1076P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S1066P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S1076P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	1102					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGCACAGGGGACAGTCCTTCA	0.532													G	110450366	A	G	110450366	3	3	364	1	0	0	0	0	1	0	0	0	873	275	10	3	275	3	ARHGAP20	11	110450366	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	321790	110450366	24556150	9086	32588											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451054	110451054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaagagaccagcttcacaGctggttttatgttgtttctt	8	16	9	8	0	2	1	1	0	1	1	2	2	2	1	1	1	3	6	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451054G>T	ENST00000260283.4	-	16	2900	c.2616C>A	c.(2614-2616)agC>agA	p.S872R	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.S849R|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.S415R|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.S846R|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.S836R|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.S846R	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	872					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CAGCTTCACAGCTGGTTTTAT	0.463													T	110451054	G	T	110451054	3	4	364	1	0	0	0	0	1	0	0	0	873	962	34	4	963	4	ARHGAP20	11	110451054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	688	110451054	24555462	9087	32589											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451259	110451259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacataggactataagatGccacagaaatggccactggc	15	6	11	9	0	0	2	0	0	0	2	0	4	0	4	2	4	1	0	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451259G>A	ENST00000260283.4	-	16	2695	c.2411C>T	c.(2410-2412)gCa>gTa	p.A804V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A781V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A347V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A778V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A768V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A778V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	804					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		ACTATAAGATGCCACAGAAAT	0.448													A	110451259	G	A	110451259	3	1	364	1	0	0	0	0	1	0	0	0	873	1319	46	2	1168	2	ARHGAP20	11	110451259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205	110451259	24555257	9088	32590											
ARHGAP20	57569	broad.mit.edu	37	chr11	110451634	110451634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtagctgggtgtgcacatgGcagatggggccctggcatga	7	8	18	8	0	0	2	0	1	0	1	0	2	0	2	1	6	2	5	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110451634G>A	ENST00000260283.4	-	16	2320	c.2036C>T	c.(2035-2037)gCc>gTc	p.A679V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A656V|ARHGAP20_ENST00000529591.1_Missense_Mutation_p.A222V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A653V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A643V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A653V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	679					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TGTGCACATGGCAGATGGGGC	0.532													A	110451634	G	A	110451634	3	1	364	1	0	0	0	0	1	0	0	0	873	1203	42	2	1543	2	ARHGAP20	11	110451634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	375	110451634	24554882	9089	32591											
ARHGAP20	57569	broad.mit.edu	37	chr11	110462832	110462832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctagaacctcgccagaaggCccagtttatgatagatcttc	11	10	9	11	1	1	4	0	1	1	3	3	4	1	4	3	1	1	2	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110462832C>T	ENST00000260283.4	-	11	1296	c.1012G>A	c.(1012-1014)Gcc>Acc	p.A338T	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.A315T|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.A312T|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.A302T|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.A312T	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	338					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CGCCAGAAGGCCCAGTTTATG	0.403													T	110462832	C	T	110462832	3	4	364	1	0	0	0	0	1	0	0	0	873	739	26	2	2587	2	ARHGAP20	11	110462832	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11198	110462832	24543684	9090	32592											
ARHGAP20	57569	broad.mit.edu	37	chr11	110485284	110485284	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcttagaaacacttaCgtaggcacaattcccaatgt	12	12	7	10	1	1	1	0	0	1	1	2	1	2	1	1	2	2	3	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:110485284C>T	ENST00000260283.4	-	7	915		c.e7+1		ARHGAP20_ENST00000524756.1_Splice_Site|ARHGAP20_ENST00000357139.3_Splice_Site|ARHGAP20_ENST00000528829.1_Splice_Site|ARHGAP20_ENST00000527598.1_Splice_Site|ARHGAP20_ENST00000533353.1_Splice_Site	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		GAAACACTTACGTAGGCACAA	0.433													T	110485284	C	T	110485284	5	4	364	1	0	0	0	0	0	0	1	0	873	550	19	1	2984	1	ARHGAP20	11	110485284	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22452	110485284	24521232	9091	32593											
BTG4	54766	broad.mit.edu	37	chr11	111369364	111369364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttagaagggcaatcagagtgCcagtgacttctgtatgtttc	10	13	11	7	0	2	3	1	1	1	2	3	3	2	3	1	1	1	3	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111369364C>T	ENST00000525791.1	-	2	322	c.138G>A	c.(136-138)tgG>tgA	p.W46*	BTG4_ENST00000356018.2_Nonsense_Mutation_p.W46*			Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	46					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation					large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		AATCAGAGTGCCAGTGACTTC	0.433													T	111369364	C	T	111369364	4	4	364	1	0	0	0	0	0	1	0	0	1566	740	26	2	553	2	BTG4	11	111369364	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	884080	111369364	23637152	9092	32594											
SIK2	23235	broad.mit.edu	37	chr11	111583019	111583019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccccaggcatccaacGtggaggccttttcatttcca	7	11	7	16	1	1	0	1	0	0	0	5	1	5	1	6	3	1	1	6	3	1	3	rs142089853	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111583019G>A	ENST00000304987.3	+	9	1359	c.1186G>A	c.(1186-1188)Gtg>Atg	p.V396M		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	396					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						GGCATCCAACGTGGAGGCCTT	0.542													A	111583019	G	A	111583019	3	1	364	1	0	0	0	0	1	0	0	0	14412	1145	40	1	1220	1	SIK2	11	111583019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213655	111583019	23423497	9093	32595											
SIK2	23235	broad.mit.edu	37	chr11	111591742	111591742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcagaccctaacctggcgCcggcggctcctcagctccag	7	5	12	17	3	1	1	1	0	0	1	3	1	3	1	5	4	2	3	5	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111591742C>T	ENST00000304987.3	+	12	2073	c.1900C>T	c.(1900-1902)Ccg>Tcg	p.P634S		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	634					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAACCTGGCGCCGGCGGCTCC	0.532													T	111591742	C	T	111591742	3	4	364	1	0	0	0	0	1	0	0	0	14412	739	26	2	1946	2	SIK2	11	111591742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8723	111591742	23414774	9094	32596											
FDXACB1	91893	broad.mit.edu	37	chr11	111746477	111746477	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgcactaggagagaaggTctaaggcagatcttggcctg	12	8	13	8	0	2	2	0	0	2	2	2	4	2	3	1	4	1	2	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111746477T>C	ENST00000260257.4	-	5	1091	c.1044A>G	c.(1042-1044)agA>agG	p.R348R	FDXACB1_ENST00000542429.1_Silent_p.R199R|ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_5'UTR	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	348					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						GGAGAGAAGGTCTAAGGCAGA	0.473													C	111746477	T	C	111746477	2	2	364	1	0	0	0	0	0	0	0	1	5855	1664	58	3		3	FDXACB1	11	111746477	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	154735	111746477	23260039	9095	32597											
PIH1D2	120379	broad.mit.edu	37	chr11	111941312	111941312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatttcagtactggaaaTctcttctatcagacacactg	11	13	7	10	0	4	1	2	0	2	1	5	3	4	3	0	2	1	1	0	2	3	4	rs139191181		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111941312T>C	ENST00000530641.1	-	5	986	c.661A>G	c.(661-663)Att>Gtt	p.I221V	PIH1D2_ENST00000280350.4_Missense_Mutation_p.I221V|PIH1D2_ENST00000431456.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000532211.1_Missense_Mutation_p.I221V|PIH1D2_ENST00000528775.1_Missense_Mutation_p.I221V			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	221										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		GTACTGGAAATCTCTTCTATC	0.408													C	111941312	T	C	111941312	3	2	364	1	0	0	0	0	1	0	0	0	11984	1435	50	3	352	3	PIH1D2	11	111941312	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	194835	111941312	23065204	9096	32598											
C11orf57	55216	broad.mit.edu	37	chr11	111953686	111953686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctgctgagagctcagAggatgactaaatgggaaaca	15	7	13	6	0	2	3	1	2	1	2	2	6	2	5	0	3	3	2	0	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:111953686A>G	ENST00000532163.1	+	6	1551	c.785A>G	c.(784-786)gAg>gGg	p.E262G	C11orf57_ENST00000393047.3_Missense_Mutation_p.E291G|C11orf57_ENST00000420986.2_Missense_Mutation_p.E290G|C11orf57_ENST00000280352.9_Missense_Mutation_p.E290G			Q6ZUT1	CK057_HUMAN	chromosome 11 open reading frame 57	290										autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12		all_cancers(61;9.8e-15)|all_epithelial(67;6.57e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.6e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;7.01e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0521)		GAGAGCTCAGAGGATGACTAA	0.433													G	111953686	A	G	111953686	3	3	364	1	0	0	0	0	1	0	0	0	1662	304	11	3	890	3	C11orf57	11	111953686	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12374	111953686	23052830	9097	32599											
IL18	3606	broad.mit.edu	37	chr11	112020819	112020819	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcagaatcagtcatatCttcaaatagaggccgatttc	14	11	7	9	1	5	2	4	0	1	2	6	3	5	2	1	1	0	0	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:112020819C>A	ENST00000280357.7	-	4	421	c.202G>T	c.(202-204)Gat>Tat	p.D68Y	IL18_ENST00000524595.1_Missense_Mutation_p.D64Y|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.D68Y|IL18_ENST00000533858.1_5'UTR	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	68					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		TCAGTCATATCTTCAAATAGA	0.343													A	112020819	C	A	112020819	3	1	364	1	0	0	0	0	1	0	0	0	7703	913	32	4	391	4	IL18	11	112020819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67133	112020819	22985697	9098	32600											
TTC12	54970	broad.mit.edu	37	chr11	113211391	113211391	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtatctgtttcaggcacaGaacaaactttattcagaatg	13	14	7	7	0	3	2	2	0	1	2	3	2	3	2	0	1	2	3	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113211391G>T	ENST00000393020.1	+	11	1237	c.832G>T	c.(832-834)Gaa>Taa	p.E278*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.E278*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E278*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E284*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	278							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		TTCAGGCACAGAACAAACTTT	0.443													T	113211391	G	T	113211391	4	4	364	1	0	0	0	0	0	1	0	0	16781	943	33	4	870	4	TTC12	11	113211391	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1190572	113211391	21795125	9099	32601											
TTC12	54970	broad.mit.edu	37	chr11	113233177	113233177	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctctctgaaaattgttgagGaggccttgcgagcaggagtg	9	10	14	8	1	1	2	0	2	1	0	2	5	1	4	2	3	2	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113233177G>T	ENST00000393020.1	+	19	2074	c.1669G>T	c.(1669-1671)Gag>Tag	p.E557*	TTC12_ENST00000529221.1_Nonsense_Mutation_p.E557*|TTC12_ENST00000314756.3_Nonsense_Mutation_p.E557*|TTC12_ENST00000483239.2_Nonsense_Mutation_p.E563*			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	557							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AATTGTTGAGGAGGCCTTGCG	0.418													T	113233177	G	T	113233177	4	4	364	1	0	0	0	0	0	1	0	0	16781	1175	41	4	1739	4	TTC12	11	113233177	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21786	113233177	21773339	9100	32602											
TTC12	54970	broad.mit.edu	37	chr11	113235565	113235565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccctgcagagttgagcGttatgatgaagctgctcagc	8	12	11	10	1	1	4	1	3	0	1	2	4	2	4	1	0	5	5	1	0	2	3	rs141446456		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113235565G>A	ENST00000529221.1	+	21	1930	c.1825G>A	c.(1825-1827)Gtt>Att	p.V609I	TTC12_ENST00000314756.3_Missense_Mutation_p.V609I|TTC12_ENST00000483239.2_Missense_Mutation_p.V615I|TTC12_ENST00000393020.1_Intron	NM_017868.3	NP_060338.3	Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	609							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGAGTTGAGCGTTATGATGAA	0.542													A	113235565	G	A	113235565	3	1	364	1	0	0	0	0	1	0	0	0	16781	1145	40	1	1903	1	TTC12	11	113235565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2388	113235565	21770951	9101	32603											
ZW10	9183	broad.mit.edu	37	chr11	113607481	113607481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaaggtgcaaatacttgggGtccttcatccatcactgttt	10	14	8	9	0	2	0	2	0	0	0	4	0	4	0	2	3	2	2	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113607481G>A	ENST00000200135.3	-	15	2224	c.2080C>T	c.(2080-2082)Ccc>Tcc	p.P694S		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	694					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		AATACTTGGGGTCCTTCATCC	0.373													A	113607481	G	A	113607481	3	1	364	1	0	0	0	0	1	0	0	0	18344	1261	44	2	267	2	ZW10	11	113607481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	371916	113607481	21399035	9102	32604											
CLDN25	644672	broad.mit.edu	37	chr11	113650928	113650928	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactaccctccttccagtCtcctgggtggcccatgccac	5	9	8	19	0	1	0	0	0	1	0	4	0	3	0	7	2	2	0	7	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113650928C>A	ENST00000453129.2	+	1	460	c.411C>A	c.(409-411)gtC>gtA	p.V137V		NM_001101389.1	NP_001094859.1	C9JDP6	CLD25_HUMAN	claudin 25	137						integral to membrane|tight junction	structural molecule activity			large_intestine(1)|lung(6)|ovary(1)|urinary_tract(2)	10						TCCTTCCAGTCTCCTGGGTGG	0.567													A	113650928	C	A	113650928	2	1	364	1	0	0	0	0	0	0	0	1	3516	900	32	4		4	CLDN25	11	113650928	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43447	113650928	21355588	9103	32605											
USP28	57646	broad.mit.edu	37	chr11	113673879	113673879	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctttacaaacagtacaaaCcagaaggcattttcttcggt	13	11	8	9	1	1	1	0	0	1	1	2	1	1	1	1	3	4	3	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673879C>A	ENST00000003302.4	-	23	2931		c.e23+1		USP28_ENST00000260188.5_Splice_Site|USP28_ENST00000545540.1_Splice_Site|USP28_ENST00000544967.1_Splice_Site	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28						cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ACAGTACAAACCAGAAGGCAT	0.458													A	113673879	C	A	113673879	5	1	364	1	0	0	0	0	0	0	1	0	17160	521	18	4	382	4	USP28	11	113673879	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22951	113673879	21332637	9104	32606											
USP28	57646	broad.mit.edu	37	chr11	113673911	113673911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcggtataaagcaatcAcggattctttgaccccccgg	9	12	8	12	3	3	1	1	1	2	0	4	2	3	2	3	3	1	2	3	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113673911A>G	ENST00000003302.4	-	23	2899	c.2831T>C	c.(2830-2832)gTg>gCg	p.V944A	USP28_ENST00000260188.5_Missense_Mutation_p.V912A|USP28_ENST00000545540.1_Missense_Mutation_p.V787A|USP28_ENST00000544967.1_Missense_Mutation_p.V620A	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	944					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		TAAAGCAATCACGGATTCTTT	0.463													G	113673911	A	G	113673911	3	3	364	1	0	0	0	0	1	0	0	0	17160	159	6	3	414	3	USP28	11	113673911	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32	113673911	21332605	9105	32607											
USP28	57646	broad.mit.edu	37	chr11	113683095	113683095	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctttcaacttcttcccaGgaagattcagtaacagagat	12	13	6	10	0	4	2	2	0	2	2	6	4	5	3	1	1	2	1	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113683095G>T	ENST00000003302.4	-	16	1943	c.1875C>A	c.(1873-1875)tcC>tcA	p.S625S	USP28_ENST00000260188.5_Silent_p.S625S|USP28_ENST00000545540.1_Silent_p.S500S|USP28_ENST00000544967.1_Silent_p.S333S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	625					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		CTTCTTCCCAGGAAGATTCAG	0.418													T	113683095	G	T	113683095	2	4	364	1	0	0	0	0	0	0	0	1	17160	987	35	4		4	USP28	11	113683095	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9184	113683095	21323421	9106	32608											
USP28	57646	broad.mit.edu	37	chr11	113698033	113698033	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagggactgattaaactcaAatcttgagagttcaaaggtc	15	10	9	7	0	3	2	2	2	1	1	4	4	3	3	0	2	1	1	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113698033A>G	ENST00000003302.4	-	11	1177	c.1109T>C	c.(1108-1110)tTt>tCt	p.F370S	USP28_ENST00000260188.5_Missense_Mutation_p.F370S|USP28_ENST00000537706.1_Missense_Mutation_p.F370S|USP28_ENST00000545540.1_Missense_Mutation_p.F245S|USP28_ENST00000544967.1_Missense_Mutation_p.F78S	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	370					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		ATTAAACTCAAATCTTGAGAG	0.363													G	113698033	A	G	113698033	3	3	364	1	0	0	0	0	1	0	0	0	17160	14	1	3	2184	3	USP28	11	113698033	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14938	113698033	21308483	9107	32609											
HTR3A	3359	broad.mit.edu	37	chr11	113857370	113857370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggtctctttcaagattaCactcctcctgggctactcgg	7	12	10	12	1	2	1	1	0	1	1	6	2	4	1	2	3	2	1	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:113857370C>A	ENST00000504030.2	+	7	1281	c.836C>A	c.(835-837)aCa>aAa	p.T279K	HTR3A_ENST00000299961.5_Missense_Mutation_p.T264K|HTR3A_ENST00000506841.2_Missense_Mutation_p.T279K|HTR3A_ENST00000355556.2_Missense_Mutation_p.T285K|HTR3A_ENST00000535865.1_Missense_Mutation_p.T23K|HTR3A_ENST00000375498.2_Missense_Mutation_p.T285K			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	279					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TTCAAGATTACACTCCTCCTG	0.587													A	113857370	C	A	113857370	3	1	364	1	0	0	0	0	1	0	0	0	7502	478	17	4	906	4	HTR3A	11	113857370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159337	113857370	21149146	9108	32610											
ZBTB16	7704	broad.mit.edu	37	chr11	114121089	114121089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctgccaccagcgctccCgggactactcggccatgatc	7	7	10	17	3	1	1	0	1	1	0	4	2	2	2	4	2	4	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114121089C>T	ENST00000335953.4	+	7	2214	c.1834C>T	c.(1834-1836)Cgg>Tgg	p.R612W	ZBTB16_ENST00000392996.2_Missense_Mutation_p.R612W|ZBTB16_ENST00000535379.1_3'UTR|RP11-64D24.2_ENST00000544925.1_RNA	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	612					apoptosis|central nervous system development|mesonephros development|myeloid cell differentiation|negative regulation of myeloid cell differentiation|negative regulation of transcription, DNA-dependent	nuclear speck|PML body|transcriptional repressor complex	protein homodimerization activity|zinc ion binding			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CCAGCGCTCCCGGGACTACTC	0.617													T	114121089	C	T	114121089	3	4	364	1	0	0	0	0	1	0	0	0	17627	643	23	1	1856	1	ZBTB16	11	114121089	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263719	114121089	20885427	9109	32611											
REXO2	25996	broad.mit.edu	37	chr11	114320644	114320644	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaagaaaaaaatagatGaaaagaagaggaaaattata	24	8	7	2	0	2	5	1	1	1	4	2	6	2	6	0	1	0	0	0	1	12	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:114320644G>T	ENST00000265881.5	+	7	804	c.661G>T	c.(661-663)Gaa>Taa	p.E221*	REXO2_ENST00000544507.1_3'UTR|REXO2_ENST00000538791.1_Nonsense_Mutation_p.E131*|REXO2_ENST00000539754.1_Nonsense_Mutation_p.E206*|REXO2_ENST00000539275.1_3'UTR	NM_015523.3	NP_056338.2	Q9Y3B8	ORN_HUMAN	RNA exonuclease 2	221					nucleotide metabolic process	mitochondrion|nucleus	3'-5' exonuclease activity|nucleic acid binding			cervix(1)|endometrium(1)|kidney(1)|lung(1)	4		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.65e-06)|Epithelial(105;6.09e-05)|all cancers(92;0.000494)		AAAAATAGATGAAAAGAAGAG	0.368													T	114320644	G	T	114320644	4	4	364	1	0	0	0	0	0	1	0	0	13330	1291	45	4	687	4	REXO2	11	114320644	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199555	114320644	20685872	9110	32612											
CADM1	23705	broad.mit.edu	37	chr11	115080356	115080356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtggtggttgttgtgggaGgagggatagttgtgggggga	5	12	24	0	0	0	0	0	0	0	0	0	4	0	4	0	9	0	3	0	9	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115080356G>T	ENST00000452722.3	-	8	1036	c.1016C>A	c.(1015-1017)cCt>cAt	p.P339H	CADM1_ENST00000536727.1_Intron|CADM1_ENST00000542447.2_Intron|CADM1_ENST00000331581.6_Missense_Mutation_p.P339H|CADM1_ENST00000537058.1_Missense_Mutation_p.P339H|CADM1_ENST00000537140.1_Intron	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1					PPTTIPPPTTTTTTTTTTTTTILTIIT -> TTATTEPAVH GLTQLPNSAEELDSEDLS (in Ref. 3; BAC11657).	adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		tgttgtggGAGGAGGGATAGT	0.443													T	115080356	G	T	115080356	3	4	364	1	0	0	0	0	1	0	0	0	2592	1000	35	4	324	4	CADM1	11	115080356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	759712	115080356	19926160	9111	32613											
CADM1	23705	broad.mit.edu	37	chr11	115111086	115111086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacttggcaactgatggtcGcaacctctccctcgatcact	8	11	8	14	2	2	2	1	2	1	0	5	3	2	2	2	2	2	2	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111086G>A	ENST00000452722.3	-	2	199	c.179C>T	c.(178-180)gCg>gTg	p.A60V	CADM1_ENST00000536727.1_Missense_Mutation_p.A60V|CADM1_ENST00000542447.2_Missense_Mutation_p.A60V|CADM1_ENST00000331581.6_Missense_Mutation_p.A60V|CADM1_ENST00000537058.1_Missense_Mutation_p.A60V|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		ACTGATGGTCGCAACCTCTCC	0.433													A	115111086	G	A	115111086	3	1	364	1	0	0	0	0	1	0	0	0	2592	1087	38	1	1185	1	CADM1	11	115111086	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30730	115111086	19895430	9112	32614											
CADM1	23705	broad.mit.edu	37	chr11	115111118	115111118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgatcactgtcacgtctttCgtaaacagattctgcccatc	9	13	6	13	3	4	1	2	0	2	1	7	2	4	1	1	0	2	1	1	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:115111118C>T	ENST00000452722.3	-	2	167	c.147G>A	c.(145-147)acG>acA	p.T49T	CADM1_ENST00000536727.1_Silent_p.T49T|CADM1_ENST00000542447.2_Silent_p.T49T|CADM1_ENST00000331581.6_Silent_p.T49T|CADM1_ENST00000537058.1_Silent_p.T49T|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		TCACGTCTTTCGTAAACAGAT	0.428													T	115111118	C	T	115111118	2	4	364	1	0	0	0	0	0	0	0	1	2592	871	31	1		1	CADM1	11	115111118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	115111118	19895398	9113	32615											
BUD13	84811	broad.mit.edu	37	chr11	116628595	116628595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatcttcgtcatcaatatagCgggccagaggcttttgcatc	9	12	10	10	2	3	1	2	0	1	1	5	2	3	1	1	2	2	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116628595C>T	ENST00000260210.4	-	8	1594	c.1571G>A	c.(1570-1572)cGc>cAc	p.R524H	BUD13_ENST00000375445.3_Missense_Mutation_p.R390H	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	524										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		ATCAATATAGCGGGCCAGAGG	0.488													T	116628595	C	T	116628595	3	4	364	1	0	0	0	0	1	0	0	0	1583	768	27	1	300	1	BUD13	11	116628595	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1517477	116628595	18377921	9114	32616											
ZNF259	8882	broad.mit.edu	37	chr11	116652883	116652883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgacctcttacctggtccatCttctggctaaactcctgtag	7	14	7	13	0	3	1	0	1	3	0	5	1	5	1	4	2	2	2	4	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116652883C>T	ENST00000227322.3	-	12	1229	c.1170G>A	c.(1168-1170)aaG>aaA	p.K390K		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	390					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CCTGGTCCATCTTCTGGCTAA	0.483													T	116652883	C	T	116652883	2	4	364	1	0	0	0	0	0	0	0	1	17902	912	32	2		2	ZNF259	11	116652883	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24288	116652883	18353633	9115	32617											
APOA4	337	broad.mit.edu	37	chr11	116693862	116693862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagcttctactcaccggCgacagccaccagggccaggg	10	4	12	15	2	2	1	1	0	1	1	2	2	2	1	4	3	3	1	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116693862C>T	ENST00000357780.3	-	1	160	c.46G>A	c.(46-48)Gcc>Acc	p.A16T		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		TACTCACCGGCGACAGCCACC	0.587													T	116693862	C	T	116693862	3	4	364	1	0	0	0	0	1	0	0	0	786	768	27	1	1156	1	APOA4	11	116693862	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40979	116693862	18312654	9116	32618											
SIK3	23387	broad.mit.edu	37	chr11	116733035	116733035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtacatcttctgcagctgCtcacactcctgaagggaaag	10	9	9	13	1	3	1	1	1	2	0	4	2	4	2	2	1	4	4	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116733035C>G	ENST00000375300.1	-	16	1973	c.1968G>C	c.(1966-1968)gaG>gaC	p.E656D	SIK3_ENST00000542607.1_Missense_Mutation_p.E598D|SIK3_ENST00000434315.2_Missense_Mutation_p.E497D|SIK3_ENST00000292055.4_Missense_Mutation_p.E598D|SIK3_ENST00000446921.2_Missense_Mutation_p.E656D|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.S30T			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	598	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TCTGCAGCTGCTCACACTCCT	0.507													G	116733035	C	G	116733035	3	3	364	1	0	0	0	0	1	0	0	0	14413	796	28	4	2029	4	SIK3	11	116733035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39173	116733035	18273481	9117	32619											
SIK3	23387	broad.mit.edu	37	chr11	116734430	116734430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcccattttttccaggTgagctttgaaggcctggatg	6	15	12	8	0	0	2	0	2	0	0	1	3	1	3	3	3	2	2	3	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116734430T>C	ENST00000375300.1	-	15	1918	c.1913A>G	c.(1912-1914)cAc>cGc	p.H638R	SIK3_ENST00000542607.1_Missense_Mutation_p.H580R|SIK3_ENST00000434315.2_Missense_Mutation_p.H479R|SIK3_ENST00000292055.4_Missense_Mutation_p.H580R|SIK3_ENST00000446921.2_Missense_Mutation_p.H638R|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000375288.1_Missense_Mutation_p.T12A			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	580	Gln-rich.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TTTTTCCAGGTGAGCTTTGAA	0.577													C	116734430	T	C	116734430	3	2	364	1	0	0	0	0	1	0	0	0	14413	1696	59	3	2088	3	SIK3	11	116734430	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1395	116734430	18272086	9118	32620											
SIK3	23387	broad.mit.edu	37	chr11	116798086	116798086	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccattctaccatgggcCaccaggtggtctgtgttgaa	7	12	11	11	0	3	1	0	1	3	0	3	1	3	1	4	3	2	1	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:116798086C>A	ENST00000375300.1	-	4	470	c.465G>T	c.(463-465)gtG>gtT	p.V155V	SIK3_ENST00000542607.1_Silent_p.V97V|SIK3_ENST00000434315.2_5'UTR|SIK3_ENST00000292055.4_Silent_p.V97V|SIK3_ENST00000446921.2_Silent_p.V155V|SIK3_ENST00000375288.1_5'UTR			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	97	Protein kinase.					cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						TACCATGGGCCACCAGGTGGT	0.448													A	116798086	C	A	116798086	2	1	364	1	0	0	0	0	0	0	0	1	14413	581	21	4		4	SIK3	11	116798086	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63656	116798086	18208430	9119	32621											
PCSK7	9159	broad.mit.edu	37	chr11	117094831	117094831	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggagttggcgtagccatcGtagttgcagttgtcgttgtg	6	14	15	6	3	0	0	0	0	0	0	2	1	0	1	1	2	2	7	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117094831G>A	ENST00000540028.1	-	0	53				PCSK7_ENST00000320934.3_Silent_p.Y339Y			Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7						peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		CGTAGCCATCGTAGTTGCAGT	0.542			T	IGH@	MLCLS								A	117094831	G	A	117094831	1	1	364	1	0	0	0	0	0	0	0	0	11681	1140	40	1		1	PCSK7	11	117094831	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296745	117094831	17911685	9120	32622											
PCSK7	9159	broad.mit.edu	37	chr11	117096678	117096678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtcattgatctgatagtGcttgttgaacgccactgcct	8	14	10	9	1	2	3	1	3	1	0	2	4	2	3	2	0	3	2	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117096678G>A	ENST00000320934.3	-	6	1459	c.829C>T	c.(829-831)Cac>Tac	p.H277Y		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	277	Catalytic.				peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		ATCTGATAGTGCTTGTTGAAC	0.542			T	IGH@	MLCLS						OREG0021371	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	117096678	G	A	117096678	3	1	364	1	0	0	0	0	1	0	0	0	11681	1319	46	2	1576	2	PCSK7	11	117096678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1847	117096678	17909838	9121	32623											
PCSK7	9159	broad.mit.edu	37	chr11	117100139	117100139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgttgaagtggacgctgCgcttggcccgccttagcagc	5	9	15	12	4	0	1	0	1	0	0	1	2	0	2	2	3	3	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117100139C>T	ENST00000320934.3	-	3	1052	c.422G>A	c.(421-423)cGc>cAc	p.R141H		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		GTGGACGCTGCGCTTGGCCCG	0.617			T	IGH@	MLCLS								T	117100139	C	T	117100139	3	4	364	1	0	0	0	0	1	0	0	0	11681	768	27	1	1995	1	PCSK7	11	117100139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3461	117100139	17906377	9122	32624											
RNF214	257160	broad.mit.edu	37	chr11	117109762	117109762	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggggttgaaggagtcCgagtggatcaggatgatgat	12	9	16	4	1	1	3	1	3	0	0	2	7	2	6	1	5	0	1	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117109762C>T	ENST00000531452.1	+	3	599	c.553C>T	c.(553-555)Cga>Tga	p.R185*	RNF214_ENST00000300650.4_Nonsense_Mutation_p.R185*|RNF214_ENST00000530849.1_Intron|RNF214_ENST00000531287.1_Intron	NM_001077239.1|NM_001278249.1	NP_001070707.1|NP_001265178.1	Q8ND24	RN214_HUMAN	ring finger protein 214	185							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		TGAAGGAGTCCGAGTGGATCA	0.443													T	117109762	C	T	117109762	4	4	364	1	0	0	0	0	0	1	0	0	13569	644	23	1	559	1	RNF214	11	117109762	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9623	117109762	17896754	9123	32625											
CEP164	22897	broad.mit.edu	37	chr11	117261583	117261583	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctatcctggctccgagcTcaggtccagtccagcacaca	9	7	10	15	1	1	0	1	0	0	0	5	1	5	0	4	3	2	4	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117261583T>G	ENST00000278935.3	+	16	2172	c.2025T>G	c.(2023-2025)gcT>gcG	p.A675A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	675	Glu-rich.				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GGCTCCGAGCTCAGGTCCAGT	0.597													G	117261583	T	G	117261583	2	3	364	1	0	0	0	0	0	0	0	1	3279	1538	54	5		5	CEP164	11	117261583	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	151821	117261583	17744933	9124	32626											
CEP164	22897	broad.mit.edu	37	chr11	117280645	117280645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggctcaaacggtggacGacttcctgttggagaagtgg	8	10	15	8	2	1	1	1	0	0	1	2	4	2	2	1	5	1	2	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117280645G>A	ENST00000278935.3	+	30	4207	c.4060G>A	c.(4060-4062)Gac>Aac	p.D1354N	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1354					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		AACGGTGGACGACTTCCTGTT	0.587													A	117280645	G	A	117280645	3	1	364	1	0	0	0	0	1	0	0	0	3279	1058	37	1	4170	1	CEP164	11	117280645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19062	117280645	17725871	9125	32627											
DSCAML1	57453	broad.mit.edu	37	chr11	117308769	117308769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatccttccactcctcgCtgttgtccaccgagtactgt	7	12	6	16	2	0	0	0	0	0	0	5	1	4	0	5	0	1	3	5	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117308769C>A	ENST00000321322.6	-	25	4455	c.4454G>T	c.(4453-4455)aGc>aTc	p.S1485I	DSCAML1_ENST00000527706.1_Missense_Mutation_p.S1215I	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1425	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCACTCCTCGCTGTTGTCCAC	0.607													A	117308769	C	A	117308769	3	1	364	1	0	0	0	0	1	0	0	0	4808	797	28	4	1923	4	DSCAML1	11	117308769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28124	117308769	17697747	9126	32628											
DSCAML1	57453	broad.mit.edu	37	chr11	117329587	117329587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgccccgcagctccacccGctcccgcgtggtggtgatgt	4	8	12	17	4	0	1	0	1	0	0	2	1	2	1	5	2	2	3	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117329587G>A	ENST00000321322.6	-	19	3632	c.3631C>T	c.(3631-3633)Cgg>Tgg	p.R1211W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R941W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1151	Fibronectin type-III 4.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGCTCCACCCGCTCCCGCGTG	0.637													A	117329587	G	A	117329587	3	1	364	1	0	0	0	0	1	0	0	0	4808	1086	38	1	2770	1	DSCAML1	11	117329587	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20818	117329587	17676929	9127	32629											
DSCAML1	57453	broad.mit.edu	37	chr11	117667814	117667814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccataaagaggccctattCtccggggaggtggtcctgtg	7	10	14	10	1	1	1	0	0	1	1	3	2	2	2	4	5	1	0	4	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117667814C>T	ENST00000321322.6	-	1	162	c.161G>A	c.(160-162)aGa>aAa	p.R54K		NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	0	Ig-like C2-type 1.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		AGGCCCTATTCTCCGGGGAGG	0.692													T	117667814	C	T	117667814	3	4	364	1	0	0	0	0	1	0	0	0	4808	913	32	2	6312	2	DSCAML1	11	117667814	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338227	117667814	17338702	9128	32630											
TMPRSS13	84000	broad.mit.edu	37	chr11	117776418	117776418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattgaggctaaaggtctgtCcatgcatggggaggcaagca	11	8	14	8	0	1	1	0	1	1	0	2	2	2	2	1	5	2	4	1	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:117776418C>T	ENST00000528626.1	-	9	1284	c.1211G>A	c.(1210-1212)gGa>gAa	p.G404E	TMPRSS13_ENST00000524993.1_Missense_Mutation_p.G439E|TMPRSS13_ENST00000430170.2_Missense_Mutation_p.G439E|TMPRSS13_ENST00000445164.2_Missense_Mutation_p.G439E	NM_001206789.1	NP_001193718.1	Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	434	Peptidase S1.				proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		AAAGGTCTGTCCATGCATGGG	0.522													T	117776418	C	T	117776418	3	4	364	1	0	0	0	0	1	0	0	0	16345	855	30	2	403	2	TMPRSS13	11	117776418	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108604	117776418	17230098	9129	32631											
SCN2B	6327	broad.mit.edu	37	chr11	118037666	118037666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcggtcttcaggTcatctgtgctcagcttctgc	3	14	8	16	1	6	0	3	0	3	0	9	0	8	0	3	2	3	2	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118037666T>C	ENST00000278947.5	-	4	825	c.584A>G	c.(583-585)gAc>gGc	p.D195G		NM_004588.4	NP_004579.1	O60939	SCN2B_HUMAN	sodium channel, voltage-gated, type II, beta subunit	195					synaptic transmission	voltage-gated sodium channel complex	voltage-gated sodium channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	7	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.19e-05)|Epithelial(105;0.00117)		GGTCTTCAGGTCATCTGTGCT	0.612													C	118037666	T	C	118037666	3	2	364	1	0	0	0	0	1	0	0	0	14010	1667	58	3	67	3	SCN2B	11	118037666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	261248	118037666	16968850	9130	32632											
MPZL3	196264	broad.mit.edu	37	chr11	118111057	118111057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacctcggacatgggcatCtgcacgaatctccaaggaaa	14	7	9	11	2	2	0	0	0	2	0	4	3	2	2	2	3	2	2	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118111057C>A	ENST00000278949.4	-	2	164	c.109G>T	c.(109-111)Gat>Tat	p.D37Y	MPZL3_ENST00000527472.1_Splice_Site|MPZL3_ENST00000525386.1_Intron			Q6UWV2	MPZL3_HUMAN	myelin protein zero-like 3	37	Ig-like V-type.				cell adhesion	integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)	8	all_hematologic(175;0.046)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		ACATGGGCATCTGCACGAATC	0.388													A	118111057	C	A	118111057	3	1	364	1	0	0	0	0	1	0	0	0	9827	913	32	4	618	4	MPZL3	11	118111057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73391	118111057	16895459	9131	32633											
CD3D	915	broad.mit.edu	37	chr11	118211282	118211282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaacactctgtcctcaagttCctctataggtatcttgaagg	11	13	7	10	0	4	1	1	1	3	0	6	1	6	1	2	2	1	2	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118211282C>T	ENST00000300692.4	-	2	218	c.82G>A	c.(82-84)Gaa>Aaa	p.E28K	CD3D_ENST00000529594.1_Intron|CD3D_ENST00000392884.2_Missense_Mutation_p.E28K	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	28					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCTCAAGTTCCTCTATAGGT	0.478													T	118211282	C	T	118211282	3	4	364	1	0	0	0	0	1	0	0	0	3040	864	30	2	449	2	CD3D	11	118211282	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100225	118211282	16795234	9132	32634											
ARCN1	372	broad.mit.edu	37	chr11	118471374	118471374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggtagatggaaacagccCcgtcaggttttccacagaga	12	7	11	11	1	1	2	1	0	0	2	2	4	2	3	4	3	2	2	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118471374C>T	ENST00000359415.4	+	11	1769	c.1604C>T	c.(1603-1605)cCc>cTc	p.P535L	ARCN1_ENST00000392859.3_Missense_Mutation_p.P406L|ARCN1_ENST00000534182.2_Intron|ARCN1_ENST00000264028.4_Missense_Mutation_p.P494L			P48444	COPD_HUMAN	archain 1	494					COPI coating of Golgi vesicle|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	clathrin adaptor complex|COPI vesicle coat|cytosol				endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|urinary_tract(1)	13	all_hematologic(175;0.0349)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		GGAAACAGCCCCGTCAGGTTT	0.393													T	118471374	C	T	118471374	3	4	364	1	0	0	0	0	1	0	0	0	845	623	22	2	1519	2	ARCN1	11	118471374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260092	118471374	16535142	9133	32635											
PHLDB1	23187	broad.mit.edu	37	chr11	118514793	118514793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccattcctctgcagagcGctctactcacccagaatggc	8	10	7	16	1	4	2	1	0	3	2	6	2	5	2	3	1	3	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118514793G>A	ENST00000361417.2	+	16	3433	c.3022G>A	c.(3022-3024)Gct>Act	p.A1008T	PHLDB1_ENST00000524713.1_Missense_Mutation_p.A151T|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.A44T|PHLDB1_ENST00000356063.5_Missense_Mutation_p.A961T	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1008										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		TCTGCAGAGCGCTCTACTCAC	0.612													A	118514793	G	A	118514793	3	1	364	1	0	0	0	0	1	0	0	0	11928	1087	38	1	3076	1	PHLDB1	11	118514793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43419	118514793	16491723	9134	32636											
PHLDB1	23187	broad.mit.edu	37	chr11	118526364	118526364	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctatttccaggccattgaGgaagtgtactacgaccacct	11	11	8	11	1	1	1	0	1	1	0	2	3	2	2	4	2	2	1	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118526364G>T	ENST00000361417.2	+	22	4335	c.3924G>T	c.(3922-3924)gaG>gaT	p.E1308D	PHLDB1_ENST00000524713.1_Missense_Mutation_p.E451D|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000527898.1_Missense_Mutation_p.E359D|PHLDB1_ENST00000356063.5_Missense_Mutation_p.E1261D	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1308	PH.									breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGGCCATTGAGGAAGTGTACT	0.592													T	118526364	G	T	118526364	3	4	364	1	0	0	0	0	1	0	0	0	11928	991	35	4	4002	4	PHLDB1	11	118526364	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11571	118526364	16480152	9135	32637											
TREH	11181	broad.mit.edu	37	chr11	118529667	118529667	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaattggttcggatccAattctgagccagctggaaag	13	10	10	8	1	2	1	1	1	1	0	4	3	3	3	2	3	2	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118529667A>G	ENST00000529101.1	-	13	1537	c.1492T>C	c.(1492-1494)Tgg>Cgg	p.W498R	TREH_ENST00000397925.1_Missense_Mutation_p.W467R|TREH_ENST00000525958.1_Missense_Mutation_p.W467R|TREH_ENST00000530256.1_Missense_Mutation_p.W375R|TREH_ENST00000264029.4_Missense_Mutation_p.W498R			O43280	TREA_HUMAN	trehalase (brush-border membrane glycoprotein)	498					polysaccharide digestion|trehalose catabolic process	anchored to plasma membrane	alpha,alpha-trehalase activity			NS(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.0564)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.16e-05)		GTTCGGATCCAATTCTGAGCC	0.592											OREG0021385	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	118529667	A	G	118529667	3	3	364	1	0	0	0	0	1	0	0	0	16570	130	5	3	270	3	TREH	11	118529667	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3303	118529667	16476849	9136	32638											
DDX6	1656	broad.mit.edu	37	chr11	118630663	118630663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacactaagagggaaagtagCggaatatagtaaaatctgcc	17	8	10	6	1	1	1	0	0	1	1	1	3	1	3	1	2	3	2	1	2	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118630663C>T	ENST00000264018.4	-	8	1137	c.832G>A	c.(832-834)Gct>Act	p.A278T	DDX6_ENST00000534980.1_Missense_Mutation_p.A278T|DDX6_ENST00000526070.2_Missense_Mutation_p.A278T	NM_004397.4	NP_004388.2	P26196	DDX6_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 6	278	Helicase ATP-binding.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|RNA-induced silencing complex|stress granule	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|RNA helicase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	13	all_hematologic(175;0.0839)	Renal(330;0.0183)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)|Hepatocellular(160;0.0893)|Breast(348;0.0979)|all_hematologic(192;0.103)		OV - Ovarian serous cystadenocarcinoma(223;3.39e-06)|BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Colorectal(284;0.0377)		GGGAAAGTAGCGGAATATAGT	0.383			T	IGH@	B-NHL								T	118630663	C	T	118630663	3	4	364	1	0	0	0	0	1	0	0	0	4411	768	27	1	643	1	DDX6	11	118630663	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100996	118630663	16375853	9137	32639											
CXCR5	643	broad.mit.edu	37	chr11	118764321	118764321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttctgggaactggacaGattggacaactataacgaca	14	8	11	8	1	1	1	0	0	1	1	1	5	1	4	0	3	3	2	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118764321G>T	ENST00000292174.4	+	2	244	c.68G>T	c.(67-69)aGa>aTa	p.R23I		NM_001716.4|NM_032966.2	NP_001707.1|NP_116743.1	P32302	CXCR5_HUMAN	chemokine (C-X-C motif) receptor 5	23					B cell activation|cellular component movement	integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GAACTGGACAGATTGGACAAC	0.567													T	118764321	G	T	118764321	3	4	364	1	0	0	0	0	1	0	0	0	4127	942	33	4	74	4	CXCR5	11	118764321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133658	118764321	16242195	9138	32640											
BCL9L	283149	broad.mit.edu	37	chr11	118773031	118773031	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctaggctctgtgtctgtGaaatcatggactgcaagggt	8	11	12	10	0	3	1	1	1	2	0	3	2	3	2	2	3	1	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118773031G>T	ENST00000334801.3	-	6	2385	c.1421C>A	c.(1420-1422)tCa>tAa	p.S474*	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	474	Necessary for interaction with CTNNB1 (By similarity).|Pro-rich.				negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		CTGTGTCTGTGAAATCATGGA	0.652													T	118773031	G	T	118773031	4	4	364	1	0	0	0	0	0	1	0	0	1387	1294	45	4	3090	4	BCL9L	11	118773031	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8710	118773031	16233485	9139	32641											
TRAPPC4	51399	broad.mit.edu	37	chr11	118889524	118889524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgatggcgatttttagtgtgTatgtggtgaacaaagctggc	9	13	14	5	2	0	1	0	1	0	0	0	3	0	1	0	3	2	2	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889524T>C	ENST00000533632.1	+	1	383	c.19T>C	c.(19-21)Tat>Cat	p.Y7H	TRAPPC4_ENST00000528230.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000525303.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.Y7H|TRAPPC4_ENST00000434101.2_Missense_Mutation_p.Y7H	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	7					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		TTTTAGTGTGTATGTGGTGAA	0.572													C	118889524	T	C	118889524	3	2	364	1	0	0	0	0	1	0	0	0	16562	1638	57	3	21	3	TRAPPC4	11	118889524	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116493	118889524	16116992	9140	32642											
TRAPPC4	51399	broad.mit.edu	37	chr11	118889933	118889933	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaagaggtgctggagtatCtgggtaaccctgctaattac	11	10	13	7	0	1	1	0	0	1	1	1	3	1	3	1	4	4	4	1	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118889933C>A	ENST00000533632.1	+	2	620	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	TRAPPC4_ENST00000528230.1_Intron|TRAPPC4_ENST00000525303.1_Intron|TRAPPC4_ENST00000359005.4_Missense_Mutation_p.L86M|TRAPPC4_ENST00000533058.1_Missense_Mutation_p.L86M|TRAPPC4_ENST00000434101.2_Intron	NM_016146.4	NP_057230.1	Q9Y296	TPPC4_HUMAN	trafficking protein particle complex 4	86					dendrite development|ER to Golgi vesicle-mediated transport	cis-Golgi network|dendrite|endoplasmic reticulum|Golgi stack|synaptic vesicle	protein binding			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_neural(223;0.224)|all_hematologic(192;0.243)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GCTGGAGTATCTGGGTAACCC	0.552													A	118889933	C	A	118889933	3	1	364	1	0	0	0	0	1	0	0	0	16562	912	32	4	262	4	TRAPPC4	11	118889933	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	409	118889933	16116583	9141	32643											
SLC37A4	2542	broad.mit.edu	37	chr11	118898339	118898339	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgggtgggggctcaccCttcttgccctcagagggcat	4	10	15	12	0	4	1	2	0	2	1	4	1	4	1	2	5	1	2	2	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118898339C>A	ENST00000545985.1	-	6	1380	c.624G>T	c.(622-624)aaG>aaT	p.K208N	SLC37A4_ENST00000357590.5_Splice_Site_p.K208N|SLC37A4_ENST00000538950.1_Splice_Site_p.K135N|SLC37A4_ENST00000525102.1_5'UTR|SLC37A4_ENST00000330775.7_Splice_Site_p.K207N	NM_001164277.1|NM_001467.5	NP_001157749.1|NP_001458.1	O43826	G6PT1_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 4	208					glucose homeostasis|glucose metabolic process	endoplasmic reticulum membrane|integral to endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphate transmembrane transporter activity			endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	6	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_neural(223;0.112)|all_hematologic(192;0.207)		BRCA - Breast invasive adenocarcinoma(274;7.58e-05)		GGGGCTCACCCTTCTTGCCCT	0.577													A	118898339	C	A	118898339	5	1	364	1	0	0	0	0	0	0	1	0	14694	695	24	4	759	4	SLC37A4	11	118898339	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8406	118898339	16108177	9142	32644											
VPS11	55823	broad.mit.edu	37	chr11	118939909	118939909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttgactaccctgcacatAtggaaggccagatctggttc	9	11	9	12	0	1	2	0	1	1	1	3	3	2	3	3	3	2	2	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118939909A>G	ENST00000300793.6	+	2	232	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	64					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		CCCTGCACATATGGAAGGCCA	0.438													G	118939909	A	G	118939909	3	3	364	1	0	0	0	0	1	0	0	0	17290	449	16	3	196	3	VPS11	11	118939909	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	41570	118939909	16066607	9143	32645											
VPS11	55823	broad.mit.edu	37	chr11	118944660	118944660	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgtccagcaatatatcCggtcagtctggaggcacttt	8	11	12	10	1	2	0	1	0	1	0	4	1	4	1	2	4	1	3	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118944660C>T	ENST00000300793.6	+	8	1276	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	413					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		GCAATATATCCGGTCAGTCTG	0.527													T	118944660	C	T	118944660	5	4	364	1	0	0	0	0	0	0	1	0	17290	666	23	1	1262	1	VPS11	11	118944660	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4751	118944660	16061856	9144	32646											
VPS11	55823	broad.mit.edu	37	chr11	118948752	118948752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagcctcgaaggccgcagCgatagggaggccccaggctg	8	3	15	15	3	0	0	0	0	0	0	1	3	0	1	5	4	2	2	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118948752C>T	ENST00000300793.6	+	11	1776	c.1734C>T	c.(1732-1734)agC>agT	p.S578S	VPS11_ENST00000527798.1_3'UTR	NM_021729.4	NP_068375.3	Q9H270	VPS11_HUMAN	vacuolar protein sorting 11 homolog (S. cerevisiae)	579					protein transport	endocytic vesicle|HOPS complex|late endosome membrane|lysosomal membrane	nucleotide binding|protein binding|zinc ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	29	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.88e-05)		AAGGCCGCAGCGATAGGGAGG	0.562													T	118948752	C	T	118948752	2	4	364	1	0	0	0	0	0	0	0	1	17290	767	27	1		1	VPS11	11	118948752	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4092	118948752	16057764	9145	32647											
DPAGT1	1798	broad.mit.edu	37	chr11	118971440	118971440	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatgaggagaggtagtgaGgcagctgtaggtagcagcag	12	6	17	6	0	0	3	0	2	0	1	0	4	0	3	1	4	3	7	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:118971440G>T	ENST00000409993.2	-	5	1947	c.396C>A	c.(394-396)gcC>gcA	p.A132A	DPAGT1_ENST00000445653.1_5'UTR|DPAGT1_ENST00000432443.2_Silent_p.A25A|DPAGT1_ENST00000354202.4_Silent_p.A132A			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	132					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GAGGTAGTGAGGCAGCTGTAG	0.552											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	118971440	G	T	118971440	2	4	364	1	0	0	0	0	0	0	0	1	4749	987	35	4		4	DPAGT1	11	118971440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22688	118971440	16035076	9146	32648											
HINFP	25988	broad.mit.edu	37	chr11	119002275	119002275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaatcctgagtggttttatCggcatgtggaagcacacagt	11	11	11	8	1	0	1	0	1	0	0	2	2	1	2	1	3	1	3	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119002275C>T	ENST00000350777.2	+	4	505	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HINFP_ENST00000527410.1_Missense_Mutation_p.R148W|HINFP_ENST00000527354.1_3'UTR	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	148					DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGGTTTTATCGGCATGTGGA	0.547													T	119002275	C	T	119002275	3	4	364	1	0	0	0	0	1	0	0	0	7165	875	31	1	452	1	HINFP	11	119002275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30835	119002275	16004241	9147	32649											
NLRX1	79671	broad.mit.edu	37	chr11	119051903	119051903	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactcaacagcctgggccCtgaggcctgcaaggacctcc	9	5	11	16	0	1	1	1	1	0	0	2	2	2	2	5	3	4	2	5	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119051903C>A	ENST00000409109.1	+	8	2878	c.2291C>A	c.(2290-2292)cCt>cAt	p.P764H	NLRX1_ENST00000409265.4_Missense_Mutation_p.P764H|NLRX1_ENST00000525863.1_Missense_Mutation_p.P764H|NLRX1_ENST00000409991.1_Missense_Mutation_p.P764H|NLRX1_ENST00000292199.2_Missense_Mutation_p.P764H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	764	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		AGCCTGGGCCCTGAGGCCTGC	0.607													A	119051903	C	A	119051903	3	1	364	1	0	0	0	0	1	0	0	0	10561	681	24	4	2317	4	NLRX1	11	119051903	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49628	119051903	15954613	9148	32650											
NLRX1	79671	broad.mit.edu	37	chr11	119053929	119053929	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtggtgtcactgacagagggGacggcggtgtcagaatactg	9	8	17	7	2	2	3	2	1	0	2	2	4	2	4	0	5	1	0	0	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119053929G>A	ENST00000409109.1	+	10	3296	c.2709G>A	c.(2707-2709)ggG>ggA	p.G903G	NLRX1_ENST00000409265.4_Intron|NLRX1_ENST00000525863.1_Intron|NLRX1_ENST00000409991.1_Silent_p.G903G|NLRX1_ENST00000292199.2_Silent_p.G903G	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	903	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGACAGAGGGGACGGCGGTGT	0.602													A	119053929	G	A	119053929	2	1	364	1	0	0	0	0	0	0	0	1	10561	1161	41	2		2	NLRX1	11	119053929	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2026	119053929	15952587	9149	32651											
PDZD3	79849	broad.mit.edu	37	chr11	119057160	119057160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtgccctctcctccccCttttctgctgcccacctcac	2	12	6	21	0	3	0	1	0	2	0	5	0	4	0	6	1	3	2	6	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119057160C>T	ENST00000531114.1	+	2	838	c.289C>T	c.(289-291)Ctt>Ttt	p.L97F	PDZD3_ENST00000355547.5_Intron|PDZD3_ENST00000392817.2_Missense_Mutation_p.L97F|PDZD3_ENST00000322712.4_Intron|PDZD3_ENST00000525131.1_Intron			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	97					cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCTCCTCCCCCTTTTCTGCTG	0.602													T	119057160	C	T	119057160	3	4	364	1	0	0	0	0	1	0	0	0	11778	696	24	2		2	PDZD3	11	119057160	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3231	119057160	15949356	9150	32652											
MCAM	4162	broad.mit.edu	37	chr11	119182354	119182355	+	Frame_Shift_Ins	INS	-	-	G																															tctccttgaatgccatccaaINSggggggccttggggaggtag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119182354_119182355insG	ENST00000392814.1	-	6	1868_1869	c.1139_1140insC	c.(1138-1140)cctfs	p.P380fs	MCAM_ENST00000264036.4_Frame_Shift_Ins_p.P431fs			P43121	MUC18_HUMAN	melanoma cell adhesion molecule	431	Ig-like C2-type 2.				anatomical structure morphogenesis|cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|skin(1)	22		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.78e-05)		ATGCCATCCAAGGGGGGCCTTG	0.609													G	119182355	-	G	119182354	7	5	364	1	0	1	1	0	0	0	0	0	9443	59	3	0	671	0	MCAM	11	119182354	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	125194	119182354	15824162	9151	32653											
MFRP	83552	broad.mit.edu	37	chr11	119217195	119217195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgattctgttgcctccatgCagaggatgacatctgagaag	10	11	11	9	1	2	3	0	2	2	2	4	6	3	4	2	1	2	2	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119217195C>T	ENST00000555262.1	-	1	188	c.29G>A	c.(28-30)tGc>tAc	p.C10Y	MFRP_ENST00000449574.2_Missense_Mutation_p.C10Y|MFRP_ENST00000360167.4_Missense_Mutation_p.C10Y|MFRP_ENST00000530681.1_Missense_Mutation_p.C10Y|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000529147.1_5'UTR	NM_001278431.1	NP_001265360.1			membrane frizzled-related protein											autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		TGCCTCCATGCAGAGGATGAC	0.562													T	119217195	C	T	119217195	3	4	364	1	0	0	0	0	1	0	0	0	9601	710	25	2	1762	2	MFRP	11	119217195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34841	119217195	15789321	9152	32654											
USP2	9099	broad.mit.edu	37	chr11	119229791	119229791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgtcactcggttcaccTcgttatggagcccatccaga	8	11	9	13	2	3	1	3	0	0	1	6	2	4	2	3	2	1	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119229791T>C	ENST00000260187.2	-	6	1409	c.1115A>G	c.(1114-1116)gAg>gGg	p.E372G	USP2_ENST00000455332.2_Missense_Mutation_p.E129G|USP2_ENST00000525735.1_Missense_Mutation_p.E163G	NM_004205.4	NP_004196.4	O75604	UBP2_HUMAN	ubiquitin specific peptidase 2	372					cell cycle|muscle organ development|negative regulation of transcription from RNA polymerase II promoter|positive regulation of mitotic cell cycle|protein deubiquitination|protein stabilization|ubiquitin-dependent protein catabolic process	nucleus|perinuclear region of cytoplasm	cyclin binding|cysteine-type endopeptidase activity|metal ion binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	24		all_hematologic(192;4.65e-05)|Breast(348;0.0101)|all_neural(223;0.0218)|Medulloblastoma(222;0.0425)|Renal(330;0.157)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.000513)|Colorectal(284;0.0116)|Lung(307;0.0853)|LUSC - Lung squamous cell carcinoma(976;0.0889)		TCGGTTCACCTCGTTATGGAG	0.493													C	119229791	T	C	119229791	3	2	364	1	0	0	0	0	1	0	0	0	17153	1551	54	3	734	3	USP2	11	119229791	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12596	119229791	15776725	9153	32655											
PVRL1	5818	broad.mit.edu	37	chr11	119510623	119510623	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgccggttgtacaggAagaagacagtgagcacagca	12	7	13	9	1	1	3	0	1	1	2	1	4	1	4	1	2	5	5	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119510623A>T	ENST00000341398.2	-	6	1102	c.1103T>A	c.(1102-1104)tTc>tAc	p.F368Y	RP11-196E1.3_ENST00000532153.1_RNA	NM_203285.1	NP_976030.1	Q15223	PVRL1_HUMAN	poliovirus receptor-related 1 (herpesvirus entry mediator C)	24					adherens junction organization|cell junction assembly|entry of virus into host cell|heterophilic cell-cell adhesion|homophilic cell adhesion|immune response	cell-cell adherens junction|extracellular region|integral to membrane	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Breast(348;0.037)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.29e-05)		GTTGTACAGGAAGAAGACAGT	0.647													T	119510623	A	T	119510623	3	4	364	1	0	0	0	0	1	0	0	0	12927	246	9	5	285	5	PVRL1	11	119510623	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	280832	119510623	15495893	9154	32656											
TRIM29	23650	broad.mit.edu	37	chr11	119998186	119998186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctcccgctgctccagcGcagccctcacttcctccttt	3	11	6	21	2	1	0	1	0	0	0	5	0	5	0	6	0	4	4	6	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998186G>A	ENST00000341846.5	-	3	1413	c.992C>T	c.(991-993)gCg>gTg	p.A331V	TRIM29_ENST00000541857.1_Missense_Mutation_p.A64V|TRIM29_ENST00000529044.1_Missense_Mutation_p.A70V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	331					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		CTGCTCCAGCGCAGCCCTCAC	0.592													A	119998186	G	A	119998186	3	1	364	1	0	0	0	0	1	0	0	0	16604	1087	38	1	802	1	TRIM29	11	119998186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	487563	119998186	15008330	9155	32657											
TRIM29	23650	broad.mit.edu	37	chr11	119998223	119998223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttgcttctccaggtcccGcaccaggtcccggaagttct	5	12	9	15	2	2	0	0	0	2	0	5	1	4	1	4	3	1	3	4	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119998223G>A	ENST00000341846.5	-	3	1376	c.955C>T	c.(955-957)Cgg>Tgg	p.R319W	TRIM29_ENST00000541857.1_Missense_Mutation_p.R52W|TRIM29_ENST00000529044.1_Missense_Mutation_p.R58W	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	319					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		TCCAGGTCCCGCACCAGGTCC	0.567													A	119998223	G	A	119998223	3	1	364	1	0	0	0	0	1	0	0	0	16604	1086	38	1	839	1	TRIM29	11	119998223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37	119998223	15008293	9156	32658											
TRIM29	23650	broad.mit.edu	37	chr11	119999157	119999157	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcttcatcctcaatcTcaatgatcttgagctgcagc	9	13	6	13	0	5	2	4	2	3	0	8	2	6	2	1	0	4	3	1	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:119999157T>A	ENST00000341846.5	-	2	1272	c.851A>T	c.(850-852)gAg>gTg	p.E284V	TRIM29_ENST00000541857.1_Missense_Mutation_p.E17V|TRIM29_ENST00000529044.1_Missense_Mutation_p.E23V	NM_012101.3	NP_036233.2	Q14134	TRI29_HUMAN	tripartite motif containing 29	284					transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	30		Breast(109;0.00117)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)		ATCCTCAATCTCAATGATCTT	0.552													A	119999157	T	A	119999157	3	1	364	1	0	0	0	0	1	0	0	0	16604	1551	54	5	947	5	TRIM29	11	119999157	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	934	119999157	15007359	9157	32659											
OAF	220323	broad.mit.edu	37	chr11	120099605	120099605	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctgtgttcgaggctctGcccaaggcctcagagcaggc	7	9	13	12	1	3	1	1	0	2	1	4	2	3	1	2	3	2	4	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120099605G>A	ENST00000328965.4	+	4	1089	c.576G>A	c.(574-576)ctG>ctA	p.L192L	OAF_ENST00000531220.1_Silent_p.L76L	NM_178507.2	NP_848602.1	Q86UD1	OAF_HUMAN	OAF homolog (Drosophila)	192										kidney(1)|lung(5)	6		Breast(109;0.00663)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)		TCGAGGCTCTGCCCAAGGCCT	0.677													A	120099605	G	A	120099605	2	1	364	1	0	0	0	0	0	0	0	1	10874	1306	46	2		2	OAF	11	120099605	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100448	120099605	14906911	9158	32660											
POU2F3	25833	broad.mit.edu	37	chr11	120175896	120175896	+	Missense_Mutation	SNP	G	G	T																															tgccaagaccttcaagcagaGgcgcattaagctgggcttca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175896G>T	ENST00000260264.4	+	7	642	c.608G>T	c.(607-609)aGg>aTg	p.R203M	POU2F3_ENST00000543440.2_Missense_Mutation_p.R201M	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	201	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		TTCAAGCAGAGGCGCATTAAG	0.557													T	120175896	G	T	120175896	3	4	364	1	0	0	0	0	1	0	0	0	12350	1000	35	4	628	4	POU2F3	11	120175896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76291	120175896	14830620	9159	32661	83	2									
POU2F3	25833	broad.mit.edu	37	chr11	120175899	120175899	+	Missense_Mutation	SNP	G	G	A																															caagaccttcaagcagaggcGcattaagctgggcttcacac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120175899G>A	ENST00000260264.4	+	7	645	c.611G>A	c.(610-612)cGc>cAc	p.R204H	POU2F3_ENST00000543440.2_Missense_Mutation_p.R202H	NM_001244682.1	NP_001231611.1	Q9UKI9	PO2F3_HUMAN	POU class 2 homeobox 3	202	POU-specific.				negative regulation by host of viral transcription	cytoplasm	sequence-specific DNA binding			large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(1)	17		Breast(109;0.0011)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;6.85e-06)		AAGCAGAGGCGCATTAAGCTG	0.552													A	120175899	G	A	120175899	3	1	364	1	0	0	0	0	1	0	0	0	12350	1087	38	1	631	1	POU2F3	11	120175899	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3	120175899	14830617	9160	32662	83	2									
ARHGEF12	23365	broad.mit.edu	37	chr11	120348158	120348158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttttttttttctctacagagGagataatgatgaagaagatc	13	16	8	4	0	1	6	0	2	1	4	3	7	1	6	0	1	1	0	0	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120348158G>A	ENST00000397843.2	+	36	3621	c.3455G>A	c.(3454-3456)gGa>gAa	p.G1152E	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.G1049E|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.G1133E	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1152					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CTCTACAGAGGAGATAATGAT	0.353			T	MLL	AML								A	120348158	G	A	120348158	3	1	364	1	0	0	0	0	1	0	0	0	900	1174	41	2	3597	2	ARHGEF12	11	120348158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172259	120348158	14658358	9161	32663											
GRIK4	2900	broad.mit.edu	37	chr11	120776016	120776016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagaacccatatttaatGctgaaggggaaccaccagga	15	6	11	9	0	0	2	0	1	0	1	0	5	0	4	3	4	3	1	3	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776016G>A	ENST00000527524.2	+	13	1577	c.1290G>A	c.(1288-1290)atG>atA	p.M430I	GRIK4_ENST00000438375.2_Missense_Mutation_p.M430I	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	430					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CATATTTAATGCTGAAGGGGA	0.552													A	120776016	G	A	120776016	3	1	364	1	0	0	0	0	1	0	0	0	6831	1319	46	2	1332	2	GRIK4	11	120776016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	427858	120776016	14230500	9162	32664											
GRIK4	2900	broad.mit.edu	37	chr11	120776053	120776053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatggaaggcaatgacCgctacgagggcttctgtgtg	10	8	16	7	2	1	2	0	1	1	1	1	5	1	3	1	4	1	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776053C>T	ENST00000527524.2	+	13	1614	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C	GRIK4_ENST00000438375.2_Missense_Mutation_p.R443C	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	443					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	AGGCAATGACCGCTACGAGGG	0.542													T	120776053	C	T	120776053	3	4	364	1	0	0	0	0	1	0	0	0	6831	652	23	1	1369	1	GRIK4	11	120776053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	120776053	14230463	9163	32665											
GRIK4	2900	broad.mit.edu	37	chr11	120776145	120776145	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggttggggatggcgtgtaCggcgttcccgaggccaacgg	5	8	18	10	5	0	0	0	0	0	0	1	2	1	1	2	7	2	3	2	7	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120776145C>T	ENST00000527524.2	+	13	1706	c.1419C>T	c.(1417-1419)taC>taT	p.Y473Y	GRIK4_ENST00000438375.2_Silent_p.Y473Y	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	473					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	ATGGCGTGTACGGCGTTCCCG	0.607													T	120776145	C	T	120776145	2	4	364	1	0	0	0	0	0	0	0	1	6831	547	19	1		1	GRIK4	11	120776145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92	120776145	14230371	9164	32666											
GRIK4	2900	broad.mit.edu	37	chr11	120831757	120831757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatatggcacaattcacGgaggctccagcatgaccttc	11	10	9	11	1	1	2	1	2	0	0	3	3	2	3	2	3	1	3	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120831757G>A	ENST00000527524.2	+	17	2301	c.2014G>A	c.(2014-2016)Gga>Aga	p.G672R	GRIK4_ENST00000438375.2_Missense_Mutation_p.G672R	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	672					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	CACAATTCACGGAGGCTCCAG	0.522													A	120831757	G	A	120831757	3	1	364	1	0	0	0	0	1	0	0	0	6831	1117	39	1	2072	1	GRIK4	11	120831757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55612	120831757	14174759	9165	32667											
TBCEL	219899	broad.mit.edu	37	chr11	120930770	120930770	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcgttactatgtggatgTtccacaggaagaagtgccat	11	13	10	7	1	0	1	0	0	0	1	2	3	1	3	2	2	2	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120930770T>G	ENST00000422003.2	+	7	1120	c.932T>G	c.(931-933)gTt>gGt	p.V311G	TBCEL_ENST00000529397.1_Missense_Mutation_p.V311G	NM_152715.3	NP_689928.3	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	311						cytoplasm|cytoskeleton			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		TATGTGGATGTTCCACAGGAA	0.398													G	120930770	T	G	120930770	3	3	364	1	0	0	0	0	1	0	0	0	15735	1725	60	5	954	5	TBCEL	11	120930770	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	99013	120930770	14075746	9166	32668											
TECTA	7007	broad.mit.edu	37	chr11	120980054	120980054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatggaattcgaggcgagatCtattacagagagaccatgga	15	8	12	6	2	1	3	0	0	1	3	2	8	1	5	1	3	1	0	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120980054C>T	ENST00000392793.1	+	4	604	c.333C>T	c.(331-333)atC>atT	p.I111I	TECTA_ENST00000264037.2_Silent_p.I111I			O75443	TECTA_HUMAN	tectorin alpha	111	NIDO.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGGCGAGATCTATTACAGAG	0.507													T	120980054	C	T	120980054	2	4	364	1	0	0	0	0	0	0	0	1	15847	903	32	2		2	TECTA	11	120980054	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49284	120980054	14026462	9167	32669											
TECTA	7007	broad.mit.edu	37	chr11	120998824	120998824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaagcgggagaccgtgtGcctgctcagccagaaccagg	9	4	13	15	2	1	2	1	0	0	2	1	3	1	2	6	2	5	1	6	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:120998824G>A	ENST00000392793.1	+	9	2409	c.2138G>A	c.(2137-2139)tGc>tAc	p.C713Y	TECTA_ENST00000264037.2_Missense_Mutation_p.C713Y			O75443	TECTA_HUMAN	tectorin alpha	713	VWFD 2.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GAGACCGTGTGCCTGCTCAGC	0.662													A	120998824	G	A	120998824	3	1	364	1	0	0	0	0	1	0	0	0	15847	1319	46	2	2168	2	TECTA	11	120998824	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18770	120998824	14007692	9168	32670											
TECTA	7007	broad.mit.edu	37	chr11	121032925	121032925	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcttccagccctgctatggGcttctcgatcccctcccatt	4	14	6	17	1	2	0	0	0	2	0	6	1	5	0	5	1	2	2	5	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121032925G>A	ENST00000392793.1	+	16	5389	c.5118G>A	c.(5116-5118)ggG>ggA	p.G1706G	TECTA_ENST00000264037.2_Silent_p.G1706G			O75443	TECTA_HUMAN	tectorin alpha	1706					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCTGCTATGGGCTTCTCGATC	0.587													A	121032925	G	A	121032925	2	1	364	1	0	0	0	0	0	0	0	1	15847	1190	42	2		2	TECTA	11	121032925	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34101	121032925	13973591	9169	32671											
TECTA	7007	broad.mit.edu	37	chr11	121033015	121033015	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcggctccctggccgcCtacggggaggcctgccgctc	2	7	15	17	4	0	0	0	0	0	0	2	1	1	1	5	5	3	2	5	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121033015C>A	ENST00000392793.1	+	16	5479	c.5208C>A	c.(5206-5208)gcC>gcA	p.A1736A	TECTA_ENST00000264037.2_Silent_p.A1736A			O75443	TECTA_HUMAN	tectorin alpha	1736					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		CCCTGGCCGCCTACGGGGAGG	0.537													A	121033015	C	A	121033015	2	1	364	1	0	0	0	0	0	0	0	1	15847	668	24	4		4	TECTA	11	121033015	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	121033015	13973501	9170	32672											
TECTA	7007	broad.mit.edu	37	chr11	121058547	121058547	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttctgaataggtgtcaGaacctcaaagataacaccat	14	13	6	8	0	3	3	2	1	1	2	3	3	3	3	2	1	2	0	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121058547G>T	ENST00000392793.1	+	21	6277	c.6006G>T	c.(6004-6006)caG>caT	p.Q2002H	TECTA_ENST00000264037.2_Missense_Mutation_p.Q2002H			O75443	TECTA_HUMAN	tectorin alpha	2002	ZP.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		ATAGGTGTCAGAACCTCAAAG	0.398													T	121058547	G	T	121058547	3	4	364	1	0	0	0	0	1	0	0	0	15847	933	33	4	6084	4	TECTA	11	121058547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25532	121058547	13947969	9171	32673											
SORL1	6653	broad.mit.edu	37	chr11	121461726	121461726	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagattcacatattcttccCttctcgactcctgggccctc	6	14	5	16	1	4	1	2	0	2	1	8	2	6	1	3	1	0	0	3	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121461726C>A	ENST00000260197.7	+	31	4359	c.4230C>A	c.(4228-4230)ccC>ccA	p.P1410P	SORL1_ENST00000534286.1_Silent_p.P320P|SORL1_ENST00000532694.1_Silent_p.P256P|SORL1_ENST00000527934.1_Silent_p.P25P|SORL1_ENST00000525532.1_Silent_p.P354P	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1410					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		ATATTCTTCCCTTCTCGACTC	0.512											OREG0021431	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	121461726	C	A	121461726	2	1	364	1	0	0	0	0	0	0	0	1	15028	668	24	4		4	SORL1	11	121461726	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	403179	121461726	13544790	9172	32674											
SORL1	6653	broad.mit.edu	37	chr11	121483485	121483485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttttctgggcatttgacaCccacaagcaagagaggagaa	13	8	10	10	0	1	3	0	1	1	2	1	5	1	3	2	2	1	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:121483485C>T	ENST00000260197.7	+	40	5492	c.5363C>T	c.(5362-5364)aCc>aTc	p.T1788I	SORL1_ENST00000534286.1_Missense_Mutation_p.T698I|SORL1_ENST00000532694.1_Missense_Mutation_p.T634I|SORL1_ENST00000527934.1_Missense_Mutation_p.T403I|SORL1_ENST00000525532.1_Missense_Mutation_p.T732I	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	1788	Fibronectin type-III 3.				cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GCATTTGACACCCACAAGCAA	0.468													T	121483485	C	T	121483485	3	4	364	1	0	0	0	0	1	0	0	0	15028	507	18	2	5521	2	SORL1	11	121483485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21759	121483485	13523031	9173	32675											
CRTAM	56253	broad.mit.edu	37	chr11	122722468	122722468	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccatcactgtgcctaaCgtaaccctgcaagatgaagg	11	9	8	13	1	2	2	1	1	1	1	3	2	2	2	3	1	4	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122722468C>T	ENST00000227348.4	+	3	308	c.261C>T	c.(259-261)aaC>aaT	p.N87N		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	87	Ig-like V-type.				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTGTGCCTAACGTAACCCTGC	0.448													T	122722468	C	T	122722468	2	4	364	1	0	0	0	0	0	0	0	1	3928	535	19	1		1	CRTAM	11	122722468	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1238983	122722468	12284048	9174	32676											
CRTAM	56253	broad.mit.edu	37	chr11	122726544	122726544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggagaaaactagtagcacCcttccggtttgaagatttgg	12	10	12	7	1	0	3	0	1	0	2	1	4	1	3	2	3	2	3	2	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122726544C>T	ENST00000227348.4	+	5	679	c.632C>T	c.(631-633)cCc>cTc	p.P211L		NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN	cytotoxic and regulatory T cell molecule	211					cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		CTAGTAGCACCCTTCCGGTTT	0.368													T	122726544	C	T	122726544	3	4	364	1	0	0	0	0	1	0	0	0	3928	623	22	2	650	2	CRTAM	11	122726544	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4076	122726544	12279972	9175	32677											
C11orf63	79864	broad.mit.edu	37	chr11	122774696	122774696	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaactggaagagtaagaaGgaggaagggcagctgctgtc	13	5	16	7	1	0	2	0	0	0	2	1	6	0	5	1	4	3	4	1	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122774696G>T	ENST00000227349.2	+	3	705	c.408G>T	c.(406-408)aaG>aaT	p.K136N	C11orf63_ENST00000307257.6_Missense_Mutation_p.K136N|C11orf63_ENST00000531316.1_Missense_Mutation_p.K136N	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	136										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AGAGTAAGAAGGAGGAAGGGC	0.512													T	122774696	G	T	122774696	3	4	364	1	0	0	0	0	1	0	0	0	1666	991	35	4	414	4	C11orf63	11	122774696	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48152	122774696	12231820	9176	32678											
C11orf63	79864	broad.mit.edu	37	chr11	122775123	122775123	+	Frame_Shift_Del	DEL	A	A	-																															cttatcttcaacttcacaatAaaaaaagaggggaatctcat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122775123delA	ENST00000227349.2	+	3	1132	c.835delA	c.(835-837)aaafs	p.K280fs	C11orf63_ENST00000307257.6_Frame_Shift_Del_p.K280fs|C11orf63_ENST00000531316.1_Frame_Shift_Del_p.K280fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	280										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		ACTTCACAATAAAAAAAGAGG	0.403													-	122775123	A	-	122775123	7	5	364	1	0	1	0	1	0	0	0	0	1666	363	13	0	841	0	C11orf63	11	122775123	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	427	122775123	12231393	9177	32679											
C11orf63	79864	broad.mit.edu	37	chr11	122828104	122828104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagcaaaaggaatatgcaAaacaagtcaaggagtacaac	21	5	8	7	0	1	0	1	0	0	0	1	2	1	2	0	2	6	3	0	2	11	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:122828104A>G	ENST00000227349.2	+	8	2341	c.2044A>G	c.(2044-2046)Aaa>Gaa	p.K682E	C11orf63_ENST00000531316.1_Missense_Mutation_p.K682E	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	682										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GGAATATGCAAAACAAGTCAA	0.373													G	122828104	A	G	122828104	3	3	364	1	0	0	0	0	1	0	0	0	1666	15	1	3	2134	3	C11orf63	11	122828104	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52981	122828104	12178412	9178	32680											
GRAMD1B	57476	broad.mit.edu	37	chr11	123465527	123465527	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctgcttctacagcaacaTcttccgctgggaaactctgg	9	11	9	12	1	4	0	0	0	4	0	5	2	5	1	1	2	5	3	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123465527T>A	ENST00000529750.1	+	5	752	c.425T>A	c.(424-426)aTc>aAc	p.I142N	GRAMD1B_ENST00000322282.7_Missense_Mutation_p.I142N|GRAMD1B_ENST00000456860.2_Missense_Mutation_p.I149N	NM_020716.1	NP_065767.1	Q3KR37	GRM1B_HUMAN	GRAM domain containing 1B	142	GRAM.					integral to membrane				NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(17)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.32e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0394)		TACAGCAACATCTTCCGCTGG	0.517													A	123465527	T	A	123465527	3	1	364	1	0	0	0	0	1	0	0	0	6803	1435	50	5	443	5	GRAMD1B	11	123465527	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	637423	123465527	11540989	9179	32681											
SCN3B	55800	broad.mit.edu	37	chr11	123513313	123513313	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgcaggtccttgctgcCattccactgcaggcgcccct	4	10	10	17	1	0	0	0	0	0	0	3	0	3	0	6	2	4	3	6	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123513313C>A	ENST00000392770.2	-	3	1088	c.286G>T	c.(286-288)Ggc>Tgc	p.G96C	SCN3B_ENST00000299333.3_Missense_Mutation_p.G96C|SCN3B_ENST00000530277.1_Missense_Mutation_p.G96C	NM_018400.3	NP_060870.1	Q9NY72	SCN3B_HUMAN	sodium channel, voltage-gated, type III, beta subunit	96	Ig-like C2-type.				axon guidance	integral to membrane|plasma membrane	voltage-gated sodium channel activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(2)|skin(2)	26		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.37e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0227)		TCCTTGCTGCCATTCCACTGC	0.567													A	123513313	C	A	123513313	3	1	364	1	0	0	0	0	1	0	0	0	14012	594	21	4	373	4	SCN3B	11	123513313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47786	123513313	11493203	9180	32682											
OR6M1	390261	broad.mit.edu	37	chr11	123676598	123676598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatggttggaaacaacaCagacaggaaggctcccaccc	15	5	9	12	0	0	1	0	0	0	1	1	3	1	3	2	4	3	2	2	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123676598C>T	ENST00000309154.2	-	1	497	c.460G>A	c.(460-462)Gtg>Atg	p.V154M		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		GGAAACAACACAGACAGGAAG	0.498													T	123676598	C	T	123676598	3	4	364	1	0	0	0	0	1	0	0	0	11281	478	17	2	484	2	OR6M1	11	123676598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163285	123676598	11329918	9181	32683											
OR6T1	219874	broad.mit.edu	37	chr11	123813655	123813655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctctcagtgcttgctgCaccttgtcattgcggagagt	5	14	11	11	1	3	1	2	0	1	1	4	2	3	1	1	1	4	4	1	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123813655C>T	ENST00000321252.2	-	1	925	c.891G>A	c.(889-891)gtG>gtA	p.V297V		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		GTGCTTGCTGCACCTTGTCAT	0.502													T	123813655	C	T	123813655	2	4	364	1	0	0	0	0	0	0	0	1	11286	697	25	2		2	OR6T1	11	123813655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137057	123813655	11192861	9182	32684											
OR6T1	219874	broad.mit.edu	37	chr11	123814133	123814133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagttgggaacagacatggCcattcatcagggtctcatag	11	10	11	9	0	3	1	3	0	1	1	4	2	3	2	1	3	1	1	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123814133C>T	ENST00000321252.2	-	1	447	c.413G>A	c.(412-414)gGc>gAc	p.G138D		NM_001005187.1	NP_001005187.1	Q8NGN1	OR6T1_HUMAN	olfactory receptor, family 6, subfamily T, member 1	138					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		ACAGACATGGCCATTCATCAG	0.567													T	123814133	C	T	123814133	3	4	364	1	0	0	0	0	1	0	0	0	11286	739	26	2	561	2	OR6T1	11	123814133	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	478	123814133	11192383	9183	32685											
OR10G9	219870	broad.mit.edu	37	chr11	123894466	123894466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcatcgtggtcctttgCttttttgttccctgtgtttt	2	21	8	10	1	0	0	0	0	0	0	3	0	2	0	2	1	2	4	2	1	0	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123894466C>T	ENST00000375024.1	+	1	747	c.747C>T	c.(745-747)tgC>tgT	p.C249C		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		TGGTCCTTTGCTTTTTTGTTC	0.532													T	123894466	C	T	123894466	2	4	364	1	0	0	0	0	0	0	0	1	10980	805	28	2		2	OR10G9	11	123894466	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80333	123894466	11112050	9184	32686											
OR10G7	390265	broad.mit.edu	37	chr11	123909476	123909476	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaccaaggtcatcagcattTtgggcaccgtgacagtggag	11	8	12	10	1	2	1	2	1	0	0	2	2	2	2	2	3	1	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123909476T>C	ENST00000330487.5	-	1	241	c.233A>G	c.(232-234)aAa>aGa	p.K78R		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CATCAGCATTTTGGGCACCGT	0.542													C	123909476	T	C	123909476	3	2	364	1	0	0	0	0	1	0	0	0	10978	1841	64	3	706	3	OR10G7	11	123909476	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15010	123909476	11097040	9185	32687											
VWA5A	4013	broad.mit.edu	37	chr11	123988405	123988405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagagtatctctgtgagCgtgaacatttacgagtttgt	10	14	11	6	2	1	4	0	3	1	1	2	5	1	4	0	0	3	2	0	0	4	4	rs145152039	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988405C>T	ENST00000456829.2	+	4	320	c.69C>T	c.(67-69)agC>agT	p.S23S	VWA5A_ENST00000392748.1_Silent_p.S23S|VWA5A_ENST00000392744.4_Silent_p.S39S|VWA5A_ENST00000360334.4_Silent_p.S23S|VWA5A_ENST00000449321.1_Silent_p.S23S|VWA5A_ENST00000361352.5_Silent_p.S23S	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	23	VIT.							p.S23S(1)		autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCTGTGAGCGTGAACATTT	0.458													T	123988405	C	T	123988405	2	4	364	1	0	0	0	0	0	0	0	1	17344	767	27	1		1	VWA5A	11	123988405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78929	123988405	11018111	9186	32688											
VWA5A	4013	broad.mit.edu	37	chr11	123988576	123988576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaattacaagacaaGatgaaggtagtagagattac	18	8	11	4	0	0	5	0	1	0	4	0	6	0	5	0	1	3	4	0	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:123988576G>T	ENST00000456829.2	+	4	491	c.240G>T	c.(238-240)aaG>aaT	p.K80N	VWA5A_ENST00000392748.1_Missense_Mutation_p.K80N|VWA5A_ENST00000392744.4_Missense_Mutation_p.K96N|VWA5A_ENST00000360334.4_Missense_Mutation_p.K80N|VWA5A_ENST00000449321.1_Missense_Mutation_p.K80N|VWA5A_ENST00000361352.5_Missense_Mutation_p.K80N	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	80	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TACAAGACAAGATGAAGGTAG	0.408													T	123988576	G	T	123988576	3	4	364	1	0	0	0	0	1	0	0	0	17344	933	33	4	246	4	VWA5A	11	123988576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171	123988576	11017940	9187	32689											
OR8G5	219865	broad.mit.edu	37	chr11	124135294	124135294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaataggcctgatttgtgCgtcagctcatataggctgta	9	14	11	7	1	2	1	2	1	0	0	2	1	2	1	1	2	2	4	1	2	5	6	rs148046413	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124135294C>T	ENST00000524943.2	+	1	572	c.572C>T	c.(571-573)gCg>gTg	p.A191V	OR8G1_ENST00000341493.2_RNA	NM_001005198.1	NP_001005198.1			olfactory receptor, family 8, subfamily G, member 5														Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0523)		CTGATTTGTGCGTCAGCTCAT	0.398													T	124135294	C	T	124135294	3	4	364	1	0	0	0	0	1	0	0	0	11312	768	27	1	574	1	OR8G5	11	124135294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146718	124135294	10871222	9188	32690											
OR8B2	26595	broad.mit.edu	37	chr11	124252823	124252823	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgagcatagaacagacCtgatgggacatggtgacctt	14	8	12	7	0	0	5	0	3	0	2	0	6	0	6	2	2	2	1	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124252823C>A	ENST00000375013.2	-	1	435	c.417G>T	c.(415-417)caG>caT	p.Q139H		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TAGAACAGACCTGATGGGACA	0.463													A	124252823	C	A	124252823	3	1	364	1	0	0	0	0	1	0	0	0	11303	680	24	4	527	4	OR8B2	11	124252823	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117529	124252823	10753693	9189	32691											
OR8A1	390275	broad.mit.edu	37	chr11	124440612	124440613	+	Frame_Shift_Ins	INS	-	-	T																															atgttgagatgacagtcttcINSttttcggctggattcaacat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124440612_124440613insT	ENST00000284287.3	+	1	720_721	c.648_649insT	c.(649-651)tttfs	p.F217fs		NM_001005194.1	NP_001005194.1	Q8NGG7	OR8A1_HUMAN	olfactory receptor, family 8, subfamily A, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			haematopoietic_and_lymphoid_tissue(1)|lung(16)|ovary(2)|prostate(1)|skin(2)	22		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0214)		TGACAGTCTTCTTTTCGGCTGG	0.48													T	124440613	-	T	124440612	7	5	364	1	0	1	1	0	0	0	0	0	11301	912	32	0	650	0	OR8A1	11	124440612	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	187789	124440612	10565904	9190	32692											
SIAE	54414	broad.mit.edu	37	chr11	124509617	124509617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcatacctgccaaaaggCgagtctctatcacagagatc	14	8	7	12	1	3	1	2	0	1	1	5	3	3	1	2	1	2	0	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124509617C>T	ENST00000263593.3	-	8	1285	c.1113G>A	c.(1111-1113)tcG>tcA	p.S371S	SIAE_ENST00000545756.1_Silent_p.S336S			Q9HAT2	SIAE_HUMAN	sialic acid acetylesterase	371						extracellular region|lysosome	carboxylesterase activity|sialate O-acetylesterase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(2)	15	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0243)		TGCCAAAAGGCGAGTCTCTAT	0.468													T	124509617	C	T	124509617	2	4	364	1	0	0	0	0	0	0	0	1	14392	755	27	1		1	SIAE	11	124509617	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69005	124509617	10496899	9191	32693											
SPA17	53340	broad.mit.edu	37	chr11	124561643	124561643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaagagtctcagataTctgggaaggaggaagagaca	18	5	13	5	0	2	4	1	0	2	4	3	8	2	7	0	3	1	0	0	3	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124561643T>C	ENST00000532692.1	+	3	1698	c.277T>C	c.(277-279)Tct>Cct	p.S93P	SPA17_ENST00000227135.2_Missense_Mutation_p.S93P|SIAE_ENST00000525730.1_Intron|SPA17_ENST00000524614.1_3'UTR			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	93					binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		GTCTCAGATATCTGGGAAGGA	0.383													C	124561643	T	C	124561643	3	2	364	1	0	0	0	0	1	0	0	0	15065	1435	50	3	287	3	SPA17	11	124561643	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52026	124561643	10444873	9192	32694											
VSIG2	23584	broad.mit.edu	37	chr11	124621457	124621457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcggctctgtgggtacCttcacctccacggccagccc	5	8	10	18	2	3	0	2	0	1	0	4	0	4	0	5	3	3	2	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124621457C>A	ENST00000403470.1	-	2	136	c.81G>T	c.(79-81)aaG>aaT	p.K27N	VSIG2_ENST00000326621.5_Missense_Mutation_p.K27N			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	27	Ig-like V-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		CTGTGGGTACCTTCACCTCCA	0.657													A	124621457	C	A	124621457	3	1	364	1	0	0	0	0	1	0	0	0	17326	680	24	4	926	4	VSIG2	11	124621457	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59814	124621457	10385059	9193	32695											
HEPN1	641654	broad.mit.edu	37	chr11	124789722	124789722	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttaggagactagggatgCaaggacccttggaggcatta	12	9	14	6	0	0	1	0	0	0	1	0	5	0	4	1	5	1	3	1	5	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124789722C>T	ENST00000408930.5	+	1	577	c.76C>T	c.(76-78)Caa>Taa	p.Q26*	HEPACAM_ENST00000298251.4_3'UTR	NM_001037558.2	NP_001032647.2	Q6WQI6	HEPN1_HUMAN	hepatocellular carcinoma, down-regulated 1	26						cytoplasm				large_intestine(1)|lung(1)|stomach(1)	3	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0287)		ACTAGGGATGCAAGGACCCTT	0.498													T	124789722	C	T	124789722	4	4	364	1	0	0	0	0	0	1	0	0	7111	711	25	2	78	2	HEPN1	11	124789722	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168265	124789722	10216794	9194	32696											
HEPACAM	220296	broad.mit.edu	37	chr11	124793761	124793761	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgggggacaggagcattctCgagtcattgaggaggggctt	8	9	17	7	2	2	1	1	1	1	0	4	5	2	4	0	6	1	2	0	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124793761C>T	ENST00000298251.4	-	3	978	c.573G>A	c.(571-573)tcG>tcA	p.S191S		NM_152722.4	NP_689935.2	Q14CZ8	HECAM_HUMAN	hepatic and glial cell adhesion molecule	191	Ig-like C2-type.				cell adhesion|cell cycle arrest|regulation of growth	cytoplasm|integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_hematologic(175;0.215)	Breast(109;0.00222)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.54e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		GGAGCATTCTCGAGTCATTGA	0.582													T	124793761	C	T	124793761	2	4	364	1	0	0	0	0	0	0	0	1	7107	871	31	1		1	HEPACAM	11	124793761	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4039	124793761	10212755	9195	32697											
SLC37A2	219855	broad.mit.edu	37	chr11	124947386	124947386	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttactagggggcgtggacaaCgccttcctcatcgcctatgc	7	10	11	13	3	1	0	1	0	0	0	3	1	2	1	3	3	3	0	3	3	4	4	rs146902663	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:124947386C>T	ENST00000403796.2	+	4	577	c.276C>T	c.(274-276)aaC>aaT	p.N92N	SLC37A2_ENST00000298280.5_Silent_p.N92N|SLC37A2_ENST00000407458.1_Silent_p.N92N|SLC37A2_ENST00000308074.4_Silent_p.N92N	NM_001145290.1	NP_001138762.1	Q8TED4	SPX2_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 2	92					carbohydrate transport|transmembrane transport	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	27	all_hematologic(175;0.215)	Breast(109;0.012)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.152)|all_lung(97;0.159)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0384)		GCGTGGACAACGCCTTCCTCA	0.537													T	124947386	C	T	124947386	2	4	364	1	0	0	0	0	0	0	0	1	14692	535	19	1		1	SLC37A2	11	124947386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153625	124947386	10059130	9196	32698											
FEZ1	9638	broad.mit.edu	37	chr11	125359496	125359496	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaattcatttacgaggtcctCcatggacttgaagctgatta	12	13	8	8	1	1	2	1	2	0	0	3	4	3	3	2	2	2	1	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125359496C>A	ENST00000278919.3	-	2	412	c.178G>T	c.(178-180)Gag>Tag	p.E60*	FEZ1_ENST00000524435.1_Nonsense_Mutation_p.E60*|FEZ1_ENST00000366139.3_Nonsense_Mutation_p.E60*	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	60					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		ACGAGGTCCTCCATGGACTTG	0.483													A	125359496	C	A	125359496	4	1	364	1	0	0	0	0	0	1	0	0	5872	864	30	4	1040	4	FEZ1	11	125359496	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	412110	125359496	9647020	9197	32699											
EI24	9538	broad.mit.edu	37	chr11	125446203	125446203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgcttggaatggtggaGtgttctgggtaagttcttta	6	17	15	3	0	2	0	0	0	2	0	2	2	2	2	0	4	1	5	0	4	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125446203G>T	ENST00000278903.6	+	4	483	c.241G>T	c.(241-243)Gtg>Ttg	p.V81L	EI24_ENST00000343678.4_Missense_Mutation_p.V81L|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	81					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		GAATGGTGGAGTGTTCTGGGT	0.368													T	125446203	G	T	125446203	3	4	364	1	0	0	0	0	1	0	0	0	5024	1029	36	4	251	4	EI24	11	125446203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86707	125446203	9560313	9198	32700											
EI24	9538	broad.mit.edu	37	chr11	125448918	125448918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtcagcaaaataattgCtgacatgctcttcaaccttt	12	14	6	9	0	3	1	2	1	1	0	3	1	3	1	1	0	4	3	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125448918C>T	ENST00000278903.6	+	7	757	c.515C>T	c.(514-516)gCt>gTt	p.A172V	EI24_ENST00000343678.4_Missense_Mutation_p.A172V|STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_004879.3	NP_004870.3	O14681	EI24_HUMAN	etoposide induced 2.4	172					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AAAATAATTGCTGACATGCTC	0.433													T	125448918	C	T	125448918	3	4	364	1	0	0	0	0	1	0	0	0	5024	797	28	2	537	2	EI24	11	125448918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2715	125448918	9557598	9199	32701											
EI24	9538	broad.mit.edu	37	chr11	125452284	125452284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcctttattcattatcagCgccaatgaagcaaagaccct	12	13	5	11	1	2	2	2	1	0	1	3	2	3	2	3	0	2	1	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125452284C>T	ENST00000343678.4	+	9	958	c.716C>T	c.(715-717)gCg>gTg	p.A239V	STT3A-AS1_ENST00000532714.1_RNA|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR|EI24_ENST00000278903.6_Silent_p.S276S	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	94					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		TCATTATCAGCGCCAATGAAG	0.368													T	125452284	C	T	125452284	3	4	364	1	0	0	0	0	1	0	0	0	5024	768	27	1	862	1	EI24	11	125452284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3366	125452284	9554232	9200	32702											
STT3A	3703	broad.mit.edu	37	chr11	125488335	125488335	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaggcaaacatatcaaggaGaatgactattatactccaac	18	8	6	9	0	1	2	1	1	0	1	2	3	2	2	1	2	3	1	1	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125488335G>A	ENST00000392708.4	+	16	2001	c.1842G>A	c.(1840-1842)gaG>gaA	p.E614E	STT3A_ENST00000529196.1_Silent_p.E614E|STT3A_ENST00000531491.1_Silent_p.E522E	NM_001278503.1|NM_001278504.1|NM_152713.3	NP_001265432.1|NP_001265433.1|NP_689926.1	P46977	STT3A_HUMAN	STT3A, subunit of the oligosaccharyltransferase complex (catalytic)	614					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			NS(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(15)|skin(1)	33	all_hematologic(175;0.228)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0996)		ATATCAAGGAGAATGACTATT	0.438													A	125488335	G	A	125488335	2	1	364	1	0	0	0	0	0	0	0	1	15429	933	33	2		2	STT3A	11	125488335	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36051	125488335	9518181	9201	32703											
CHEK1	1111	broad.mit.edu	37	chr11	125497521	125497521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagttcaacttgctgtgaatAgagtaactgaagaagcagtc	14	10	11	6	0	1	4	1	2	0	2	2	5	1	4	0	0	4	4	0	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125497521A>G	ENST00000534070.1	+	3	340	c.85A>G	c.(85-87)Aga>Gga	p.R29G	CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000438015.1_Missense_Mutation_p.R29G|CHEK1_ENST00000524737.1_Missense_Mutation_p.R29G|CHEK1_ENST00000428830.2_Missense_Mutation_p.R29G|CHEK1_ENST00000278916.3_Missense_Mutation_p.R29G|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000544373.1_Missense_Mutation_p.R29G	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	29	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		TGCTGTGAATAGAGTAACTGA	0.338								Other conserved DNA damage response genes					G	125497521	A	G	125497521	3	3	364	1	0	0	0	0	1	0	0	0	3364	412	15	3	91	3	CHEK1	11	125497521	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9186	125497521	9508995	9202	32704											
CHEK1	1111	broad.mit.edu	37	chr11	125503111	125503111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtatttcggtataataatCgtgagcgtttgttgaacaag	12	14	10	5	3	0	2	0	2	0	0	2	2	0	2	0	1	2	4	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125503111C>T	ENST00000534070.1	+	6	733	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C	CHEK1_ENST00000427383.2_Missense_Mutation_p.R176C|CHEK1_ENST00000438015.1_Missense_Mutation_p.R160C|CHEK1_ENST00000524737.1_Missense_Mutation_p.R160C|CHEK1_ENST00000428830.2_Missense_Mutation_p.R160C|CHEK1_ENST00000278916.3_Missense_Mutation_p.R160C|CHEK1_ENST00000532449.1_3'UTR|CHEK1_ENST00000544373.1_Missense_Mutation_p.R160C	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	160	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		GTATAATAATCGTGAGCGTTT	0.358								Other conserved DNA damage response genes					T	125503111	C	T	125503111	3	4	364	1	0	0	0	0	1	0	0	0	3364	884	31	1	496	1	CHEK1	11	125503111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5590	125503111	9503405	9203	32705											
ACRV1	56	broad.mit.edu	37	chr11	125547891	125547891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggtgttcacctgaaggCtgttctcctgaaggctgctc	7	11	13	10	0	2	3	1	2	1	1	4	4	2	3	2	3	1	5	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125547891C>T	ENST00000533904.1	-	2	696	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ACRV1_ENST00000348856.3_Silent_p.Q63Q|ACRV1_ENST00000353070.1_Intron|ACRV1_ENST00000530048.1_Silent_p.Q63Q|ACRV1_ENST00000425431.1_Intron|ACRV1_ENST00000445562.1_Intron|ACRV1_ENST00000345274.1_Silent_p.Q48Q|ACRV1_ENST00000453509.1_Silent_p.Q48Q|ACRV1_ENST00000527795.1_Silent_p.Q48Q|ACRV1_ENST00000315608.3_Silent_p.Q118Q			P26436	ASPX_HUMAN	acrosomal vesicle protein 1	118	4 X 4 AA repeats of S-G-E-H.|9 X 5 AA repeats of [SV]-G-E-Q-[PSA].				multicellular organismal development	acrosomal vesicle				kidney(1)|large_intestine(3)|lung(2)	6	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0179)|Lung NSC(97;0.0185)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0713)		CACCTGAAGGCTGTTCTCCTG	0.542													T	125547891	C	T	125547891	2	4	364	1	0	0	0	0	0	0	0	1	172	796	28	2		2	ACRV1	11	125547891	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44780	125547891	9458625	9204	32706											
DDX25	29118	broad.mit.edu	37	chr11	125778165	125778165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccaagagatggctctccCtatgatgctggcacatccgt	10	10	9	12	1	1	2	0	1	1	1	4	3	3	2	3	2	1	3	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125778165C>A	ENST00000263576.6	+	5	541	c.386C>A	c.(385-387)cCt>cAt	p.P129H	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	129					mRNA export from nucleus|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|nucleus	ATP binding|ATP-dependent RNA helicase activity|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		ATGGCTCTCCCTATGATGCTG	0.368													A	125778165	C	A	125778165	3	1	364	1	0	0	0	0	1	0	0	0	4386	681	24	4	404	4	DDX25	11	125778165	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230274	125778165	9228351	9205	32707											
CDON	50937	broad.mit.edu	37	chr11	125873880	125873880	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacttcataaagactaGatggctccagctcagctaaa	15	9	7	10	0	3	3	3	0	0	3	4	3	4	3	1	1	2	3	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125873880G>T	ENST00000392693.3	-	10	2070	c.1943C>A	c.(1942-1944)tCt>tAt	p.S648Y	CDON_ENST00000531738.1_Missense_Mutation_p.S25Y|CDON_ENST00000263577.7_Missense_Mutation_p.S648Y	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	648	Fibronectin type-III 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		ATAAAGACTAGATGGCTCCAG	0.537													T	125873880	G	T	125873880	3	4	364	1	0	0	0	0	1	0	0	0	3200	942	33	4	1895	4	CDON	11	125873880	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95715	125873880	9132636	9206	32708											
CDON	50937	broad.mit.edu	37	chr11	125889636	125889636	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtaataacatgctttGtggatgaaccaaaatcacca	14	11	7	9	0	1	1	1	1	0	0	1	2	1	2	2	1	4	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:125889636G>A	ENST00000392693.3	-	4	501	c.374C>T	c.(373-375)aCa>aTa	p.T125I	CDON_ENST00000263577.7_Missense_Mutation_p.T125I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	125	Ig-like C2-type 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		AACATGCTTTGTGGATGAACC	0.368													A	125889636	G	A	125889636	3	1	364	1	0	0	0	0	1	0	0	0	3200	1377	48	2	3488	2	CDON	11	125889636	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15756	125889636	9116880	9207	32709											
SRPR	6734	broad.mit.edu	37	chr11	126136713	126136713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctcgcgcttcctgcGgatcagctcctctttggaaa	7	11	9	14	3	2	0	1	0	1	0	6	3	5	2	3	2	3	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126136713G>A	ENST00000332118.6	-	5	785	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	SRPR_ENST00000532259.1_Missense_Mutation_p.R183C	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	211					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CGCTTCCTGCGGATCAGCTCC	0.498													A	126136713	G	A	126136713	3	1	364	1	0	0	0	0	1	0	0	0	15258	1116	39	1	1325	1	SRPR	11	126136713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247077	126136713	8869803	9208	32710											
SRPR	6734	broad.mit.edu	37	chr11	126137106	126137107	+	Frame_Shift_Ins	INS	-	-	T																															ttttttttgctattctttgcINStttttccttgggcttttccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126137106_126137107insT	ENST00000332118.6	-	4	643_644	c.489_490insA	c.(487-492)aaagcafs	p.A164fs	SRPR_ENST00000532259.1_Frame_Shift_Ins_p.A136fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	164					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTATTCTTTGCTTTTTCCTTGG	0.45													T	126137107	-	T	126137106	7	5	364	1	0	1	1	0	0	0	0	0	15258	797	28	0	1470	0	SRPR	11	126137106	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	393	126137106	8869410	9209	32711											
FOXRED1	55572	broad.mit.edu	37	chr11	126141551	126141551	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtggaacgggaccacaCggtgaggtctggggtagggc	8	6	20	7	2	1	1	0	1	1	0	1	3	1	3	1	8	1	1	1	8	2	1	rs77785510		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126141551C>T	ENST00000263578.5	+	2	379	c.305C>T	c.(304-306)aCg>aTg	p.T102M	FOXRED1_ENST00000534011.1_Intron|FOXRED1_ENST00000442061.2_Intron|FOXRED1_ENST00000532125.1_Splice_Site_p.T88M	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	102						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		CGGGACCACACGGTGAGGTCT	0.552													T	126141551	C	T	126141551	5	4	364	1	0	0	0	0	0	0	1	0	6084	550	19	1	311	1	FOXRED1	11	126141551	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4445	126141551	8864965	9210	32712											
FOXRED1	55572	broad.mit.edu	37	chr11	126145996	126145996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaccagcctgtggaatgcGccattgtgatcaacgcagcc	10	8	11	12	2	1	1	1	1	0	0	1	2	1	2	4	1	5	2	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126145996G>A	ENST00000263578.5	+	8	927	c.853G>A	c.(853-855)Gcc>Acc	p.A285T	FOXRED1_ENST00000534011.1_3'UTR|FOXRED1_ENST00000442061.2_Missense_Mutation_p.A115T|FOXRED1_ENST00000532125.1_Missense_Mutation_p.A271T	NM_017547.3	NP_060017.1	Q96CU9	FXRD1_HUMAN	FAD-dependent oxidoreductase domain containing 1	285						integral to membrane|mitochondrion	oxidoreductase activity|protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(1)	15	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0729)		TGTGGAATGCGCCATTGTGAT	0.642													A	126145996	G	A	126145996	3	1	364	1	0	0	0	0	1	0	0	0	6084	1087	38	1	883	1	FOXRED1	11	126145996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4445	126145996	8860520	9211	32713											
KIRREL3	84623	broad.mit.edu	37	chr11	126301387	126301387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccacaccagctcctacGgccaccccaatgatgacggc	11	4	9	17	2	0	2	0	2	0	0	1	2	1	2	6	3	2	1	6	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126301387G>A	ENST00000525144.2	-	14	1872	c.1623C>T	c.(1621-1623)gcC>gcT	p.A541A	KIRREL3_ENST00000529097.2_Silent_p.A529A|KIRREL3_ENST00000416561.2_Silent_p.A8A|KIRREL3_ENST00000525704.2_Silent_p.A541A	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	541					hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		CAGCTCCTACGGCCACCCCAA	0.602													A	126301387	G	A	126301387	2	1	364	1	0	0	0	0	0	0	0	1	8384	1103	39	1		1	KIRREL3	11	126301387	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155391	126301387	8705129	9212	32714											
KIRREL3	84623	broad.mit.edu	37	chr11	126333072	126333072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggatgtcaatggtgaccGacgtctcctttcctccgggg	5	11	13	12	3	2	1	1	1	1	0	5	3	4	2	4	4	0	1	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:126333072G>A	ENST00000525144.2	-	6	971	c.722C>T	c.(721-723)tCg>tTg	p.S241L	KIRREL3_ENST00000529097.2_Missense_Mutation_p.S241L|KIRREL3_ENST00000525704.2_Missense_Mutation_p.S241L	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	241	Ig-like C2-type 2.				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding			central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AATGGTGACCGACGTCTCCTT	0.617													A	126333072	G	A	126333072	3	1	364	1	0	0	0	0	1	0	0	0	8384	1059	37	1	1769	1	KIRREL3	11	126333072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31685	126333072	8673444	9213	32715											
ETS1	2113	broad.mit.edu	37	chr11	128350152	128350152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgaggtcagcacggtcccGcacatagtccttgaaggtgc	9	9	12	11	2	1	2	1	2	0	0	3	2	3	2	2	3	2	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128350152G>A	ENST00000392668.4	-	8	1141	c.1057C>T	c.(1057-1059)Cgg>Tgg	p.R353W	ETS1_ENST00000526145.2_Intron|ETS1_ENST00000319397.6_Missense_Mutation_p.R309W|ETS1_ENST00000535549.1_Missense_Mutation_p.R93W|ETS1_ENST00000345075.4_Intron|ETS1_ENST00000531611.1_Intron	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCACGGTCCCGCACATAGTCC	0.597													A	128350152	G	A	128350152	3	1	364	1	0	0	0	0	1	0	0	0	5316	1086	38	1	412	1	ETS1	11	128350152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2017080	128350152	6656364	9214	32716											
ETS1	2113	broad.mit.edu	37	chr11	128426321	128426321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcttcataagtgttgctagGtccttgcctctgtgcaagaa	9	14	9	9	0	3	1	1	0	2	1	4	1	4	1	2	1	3	3	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128426321G>A	ENST00000392668.4	-	3	163	c.79C>T	c.(79-81)Cct>Tct	p.P27S	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1						cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GTGTTGCTAGGTCCTTGCCTC	0.393													A	128426321	G	A	128426321	3	1	364	1	0	0	0	0	1	0	0	0	5316	1261	44	2	1496	2	ETS1	11	128426321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76169	128426321	6580195	9215	32717											
FLI1	2313	broad.mit.edu	37	chr11	128675297	128675297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcagaagaggagcttgggGcaataacatgaattctggcc	13	8	13	7	0	2	3	1	1	1	2	2	4	2	4	1	4	2	2	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128675297G>A	ENST00000527786.2	+	6	1181	c.692G>A	c.(691-693)gGc>gAc	p.G231D	FLI1_ENST00000534087.2_Missense_Mutation_p.G198D|FLI1_ENST00000344954.6_Missense_Mutation_p.G198D|FLI1_ENST00000281428.8_Missense_Mutation_p.G165D|FLI1_ENST00000525560.1_Missense_Mutation_p.G38D	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		GGAGCTTGGGGCAATAACATG	0.408			T	EWSR1	Ewing sarcoma								A	128675297	G	A	128675297	3	1	364	1	0	0	0	0	1	0	0	0	5973	1203	42	2	714	2	FLI1	11	128675297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248976	128675297	6331219	9216	32718											
FLI1	2313	broad.mit.edu	37	chr11	128680652	128680652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacatccgaccgagtcGtccatgtacaagtacccttc	10	8	7	16	3	0	0	0	0	0	0	4	2	2	0	5	0	3	2	5	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128680652G>A	ENST00000527786.2	+	9	1617	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	FLI1_ENST00000534087.2_Silent_p.S343S|FLI1_ENST00000344954.6_Silent_p.S343S|FLI1_ENST00000281428.8_Silent_p.S310S|FLI1_ENST00000525560.1_Silent_p.S183S	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor						hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		CGACCGAGTCGTCCATGTACA	0.498			T	EWSR1	Ewing sarcoma								A	128680652	G	A	128680652	2	1	364	1	0	0	0	0	0	0	0	1	5973	1132	40	1		1	FLI1	11	128680652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5355	128680652	6325864	9217	32719											
C11orf45	219833	broad.mit.edu	37	chr11	128774420	128774420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcgtccagggcggagaggtCgtgctactcaggtgtgcact	6	9	16	10	3	1	1	1	0	0	1	3	2	2	1	1	4	4	2	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128774420C>T	ENST00000310799.3	-	2	235	c.42G>A	c.(40-42)acG>acA	p.T14T	KCNJ5_ENST00000529694.1_Intron|C11orf45_ENST00000524878.1_Silent_p.T14T|KCNJ5_ENST00000338350.4_Intron	NM_001256088.1|NM_145013.2	NP_001243017.1|NP_659450.1	Q8TAV5	CK045_HUMAN	chromosome 11 open reading frame 45	14						extracellular region				endometrium(1)|kidney(1)|lung(2)|pancreas(1)|prostate(2)	7	all_hematologic(175;0.0641)	Lung NSC(97;0.00521)|Breast(109;0.00715)|all_lung(97;0.0111)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.00531)|LUSC - Lung squamous cell carcinoma(976;0.0193)|Lung(977;0.0195)		gcggagaGGTCGtgctactca	0.582													T	128774420	C	T	128774420	2	4	364	1	0	0	0	0	0	0	0	1	1654	871	31	1		1	C11orf45	11	128774420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93768	128774420	6232096	9218	32720											
KCNJ5	3762	broad.mit.edu	37	chr11	128781290	128781290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgccacagaccgtacgcGcctgctggccgagggcaaga	9	5	13	14	4	0	2	0	0	0	2	0	3	0	2	4	2	3	3	4	2	2	2	rs139073333	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781290G>A	ENST00000529694.1	+	2	498	c.122G>A	c.(121-123)cGc>cAc	p.R41H	KCNJ5_ENST00000533599.1_Missense_Mutation_p.R41H|KCNJ5_ENST00000338350.4_Missense_Mutation_p.R41H	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	41					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.R41H(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACCGTACGCGCCTGCTGGCC	0.597													A	128781290	G	A	128781290	3	1	364	1	0	0	0	0	1	0	0	0	8112	1087	38	1	124	1	KCNJ5	11	128781290	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6870	128781290	6225226	9219	32721											
KCNJ5	3762	broad.mit.edu	37	chr11	128781759	128781759	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccagcccaagaagagagcGgagaccctcatgttttccaa	13	6	10	12	1	1	3	1	0	0	3	2	5	2	3	4	1	3	1	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781759G>A	ENST00000529694.1	+	2	967	c.591G>A	c.(589-591)gcG>gcA	p.A197A	KCNJ5_ENST00000533599.1_Silent_p.A197A|KCNJ5_ENST00000338350.4_Silent_p.A197A	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	197					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGAAGAGAGCGGAGACCCTCA	0.567													A	128781759	G	A	128781759	2	1	364	1	0	0	0	0	0	0	0	1	8112	1103	39	1		1	KCNJ5	11	128781759	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	128781759	6224757	9220	32722											
KCNJ5	3762	broad.mit.edu	37	chr11	128781940	128781940	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgaaccagacagacatcAacgtgggctttgacacgggc	11	6	11	13	2	1	4	1	2	0	2	1	4	1	4	2	2	2	1	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128781940A>G	ENST00000529694.1	+	2	1148	c.772A>G	c.(772-774)Aac>Gac	p.N258D	KCNJ5_ENST00000533599.1_Missense_Mutation_p.N258D|KCNJ5_ENST00000338350.4_Missense_Mutation_p.N258D	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	258					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	GACAGACATCAACGTGGGCTT	0.577													G	128781940	A	G	128781940	3	3	364	1	0	0	0	0	1	0	0	0	8112	130	5	3	774	3	KCNJ5	11	128781940	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	181	128781940	6224576	9221	32723											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839787	128839787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaccttctgccgagcaCggctctctctccggatggac	5	11	9	16	3	4	0	1	0	3	0	6	3	4	2	3	3	2	2	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:128839787C>T	ENST00000310343.9	-	22	5278	c.5279G>A	c.(5278-5280)cGt>cAt	p.R1760H	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1411H|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1411H	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1760	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCCGAGCACGGCTCTCTCT	0.552													T	128839787	C	T	128839787	3	4	364	1	0	0	0	0	1	0	0	0	884	536	19	1	988	1	ARHGAP32	11	128839787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57847	128839787	6166729	9222	32724											
BARX2	8538	broad.mit.edu	37	chr11	129321276	129321276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagttgccaataccctcttcGgaacccccaccattaagcta	11	9	6	15	1	1	0	0	0	1	0	2	2	1	1	5	1	4	2	5	1	5	5	rs139211336	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129321276G>A	ENST00000281437.4	+	4	915	c.819G>A	c.(817-819)tcG>tcA	p.S273S	BARX2_ENST00000531946.1_Silent_p.S151S|BARX2_ENST00000526127.1_Silent_p.S128S	NM_003658.4	NP_003649.2	Q9UMQ3	BARX2_HUMAN	BARX homeobox 2	273										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	20	all_hematologic(175;0.0749)	Lung NSC(97;0.000383)|all_lung(97;0.000824)|Breast(109;0.000962)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.00929)|Lung(977;0.0245)|LUSC - Lung squamous cell carcinoma(976;0.0253)		TACCCTCTTCGGAACCCCCAC	0.542													A	129321276	G	A	129321276	2	1	364	1	0	0	0	0	0	0	0	1	1321	1103	39	1		1	BARX2	11	129321276	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	481489	129321276	5685240	9223	32725											
NFRKB	4798	broad.mit.edu	37	chr11	129739838	129739838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaaggggcactggctgAactggccttggcagggctat	8	8	17	8	0	0	2	0	2	0	0	0	3	0	3	1	7	1	4	1	7	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129739838A>G	ENST00000446488.3	-	23	3185	c.3082T>C	c.(3082-3084)Tca>Cca	p.S1028P	NFRKB_ENST00000524794.1_Missense_Mutation_p.S1053P|NFRKB_ENST00000524746.1_Missense_Mutation_p.S1028P|NFRKB_ENST00000304521.5_Missense_Mutation_p.S1028P	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1028					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GCACTGGCTGAACTGGCCTTG	0.537													G	129739838	A	G	129739838	3	3	364	1	0	0	0	0	1	0	0	0	10460	246	9	3	833	3	NFRKB	11	129739838	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	418562	129739838	5266678	9224	32726											
PRDM10	56980	broad.mit.edu	37	chr11	129772399	129772399	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgattgactttctgataAcacataatgaccctagagga	13	13	7	8	0	2	5	0	4	2	1	2	6	2	6	1	1	1	0	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129772399A>G	ENST00000358825.5	-	22	3523	c.3292T>C	c.(3292-3294)Tta>Cta	p.L1098L	PRDM10_ENST00000360871.3_Silent_p.L1094L|PRDM10_ENST00000304538.6_Silent_p.L961L|PRDM10_ENST00000526082.1_Silent_p.L1012L|PRDM10_ENST00000528746.1_Silent_p.L1055L|PRDM10_ENST00000423662.2_Silent_p.L999L	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	1085					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CTTTCTGATAACACATAATGA	0.488													G	129772399	A	G	129772399	2	3	364	1	0	0	0	0	0	0	0	1	12537	40	2	3		3	PRDM10	11	129772399	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32561	129772399	5234117	9225	32727											
PRDM10	56980	broad.mit.edu	37	chr11	129787027	129787027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatttcccttttaccttatCgcaatactgacaaaagtaat	14	15	3	9	1	0	1	0	1	0	0	2	1	1	1	2	0	2	2	2	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129787027C>T	ENST00000358825.5	-	16	2563	c.2332G>A	c.(2332-2334)Gat>Aat	p.D778N	PRDM10_ENST00000360871.3_Missense_Mutation_p.D774N|PRDM10_ENST00000304538.6_Missense_Mutation_p.D688N|PRDM10_ENST00000526082.1_Missense_Mutation_p.D692N|PRDM10_ENST00000528746.1_Missense_Mutation_p.D748N|PRDM10_ENST00000423662.2_Missense_Mutation_p.D692N	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	778					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D774N(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTACCTTATCGCAATACTGA	0.378													T	129787027	C	T	129787027	3	4	364	1	0	0	0	0	1	0	0	0	12537	884	31	1	1178	1	PRDM10	11	129787027	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14628	129787027	5219489	9226	32728											
PRDM10	56980	broad.mit.edu	37	chr11	129788582	129788582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctcaggattatgcatcCtctgcatgtgttcccgtagt	6	14	8	13	1	2	0	1	0	2	0	5	1	4	1	3	1	2	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129788582C>A	ENST00000358825.5	-	15	2309	c.2078G>T	c.(2077-2079)aGg>aTg	p.R693M	PRDM10_ENST00000360871.3_Missense_Mutation_p.R689M|PRDM10_ENST00000304538.6_Missense_Mutation_p.R603M|PRDM10_ENST00000526082.1_Missense_Mutation_p.R607M|PRDM10_ENST00000528746.1_Missense_Mutation_p.R663M|PRDM10_ENST00000423662.2_Missense_Mutation_p.R607M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	693					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		ATTATGCATCCTCTGCATGTG	0.493													A	129788582	C	A	129788582	3	1	364	1	0	0	0	0	1	0	0	0	12537	681	24	4	1436	4	PRDM10	11	129788582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1555	129788582	5217934	9227	32729											
PRDM10	56980	broad.mit.edu	37	chr11	129800970	129800970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgctctgggtgggcaccaCgctctcttcatgctgcggct	3	11	13	14	3	3	0	1	0	2	0	4	0	3	0	1	3	3	5	1	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129800970C>T	ENST00000358825.5	-	11	1702	c.1471G>A	c.(1471-1473)Gtg>Atg	p.V491M	PRDM10_ENST00000360871.3_Missense_Mutation_p.V491M|PRDM10_ENST00000304538.6_Missense_Mutation_p.V405M|PRDM10_ENST00000526082.1_Missense_Mutation_p.V405M|PRDM10_ENST00000528746.1_Missense_Mutation_p.V465M|PRDM10_ENST00000423662.2_Missense_Mutation_p.V405M	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GTGGGCACCACGCTCTCTTCA	0.617													T	129800970	C	T	129800970	3	4	364	1	0	0	0	0	1	0	0	0	12537	536	19	1	2059	1	PRDM10	11	129800970	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12388	129800970	5205546	9228	32730											
PRDM10	56980	broad.mit.edu	37	chr11	129805097	129805097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagcagggccaattcttCtcttgctctcgaagaactac	10	12	7	12	1	4	1	1	0	3	1	6	2	4	1	1	1	4	2	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129805097C>A	ENST00000358825.5	-	9	1287	c.1056G>T	c.(1054-1056)gaG>gaT	p.E352D	PRDM10_ENST00000360871.3_Missense_Mutation_p.E352D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E266D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E266D|PRDM10_ENST00000528746.1_Missense_Mutation_p.E326D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E266D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		GCCAATTCTTCTCTTGCTCTC	0.428													A	129805097	C	A	129805097	3	1	364	1	0	0	0	0	1	0	0	0	12537	912	32	4	2482	4	PRDM10	11	129805097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4127	129805097	5201419	9229	32731											
PRDM10	56980	broad.mit.edu	37	chr11	129827806	129827806	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccggaacaaagtgcacCtggcataaacaggagacaaa	16	5	11	9	1	0	1	0	0	0	1	1	3	1	2	2	3	3	2	2	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129827806C>A	ENST00000358825.5	-	3	301		c.e3-1		PRDM10_ENST00000360871.3_Splice_Site|PRDM10_ENST00000528746.1_Splice_Site	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CAAAGTGCACCTGGCATAAAC	0.498													A	129827806	C	A	129827806	5	1	364	1	0	0	0	0	0	0	1	0	12537	695	24	4	3529	4	PRDM10	11	129827806	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22709	129827806	5178710	9230	32732											
APLP2	334	broad.mit.edu	37	chr11	129996708	129996708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctggagattcggcacCgcaaccgaatggacagggta	12	5	14	10	3	0	1	0	0	0	1	1	4	0	2	2	4	3	5	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:129996708C>T	ENST00000263574.5	+	8	1276	c.1204C>T	c.(1204-1206)Cgc>Tgc	p.R402C	APLP2_ENST00000543137.1_Missense_Mutation_p.R309C|APLP2_ENST00000345598.5_Missense_Mutation_p.R173C|APLP2_ENST00000539648.1_Missense_Mutation_p.R190C|APLP2_ENST00000528499.1_Missense_Mutation_p.R346C|APLP2_ENST00000338167.5_Missense_Mutation_p.R402C|APLP2_ENST00000278756.7_Missense_Mutation_p.R412C	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	402					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		GATTCGGCACCGCAACCGAAT	0.458													T	129996708	C	T	129996708	3	4	364	1	0	0	0	0	1	0	0	0	782	652	23	1	1234	1	APLP2	11	129996708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168902	129996708	5009808	9231	32733											
ST14	6768	broad.mit.edu	37	chr11	130060400	130060400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtggagctgatgcgcttcaCcacgcccggcttccctgaca	6	9	11	15	3	1	2	1	2	0	0	2	3	2	3	3	2	2	3	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130060400C>T	ENST00000278742.5	+	7	1104	c.686C>T	c.(685-687)aCc>aTc	p.T229I		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	229	CUB 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	ATGCGCTTCACCACGCCCGGC	0.701													T	130060400	C	T	130060400	3	4	364	1	0	0	0	0	1	0	0	0	15307	507	18	2	712	2	ST14	11	130060400	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63692	130060400	4946116	9232	32734											
ST14	6768	broad.mit.edu	37	chr11	130068297	130068297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgactgcggagacaacagCgacgagcaggggtgcagtga	13	3	16	9	4	0	2	0	1	0	1	0	6	0	2	0	3	6	2	0	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130068297C>T	ENST00000278742.5	+	13	1972	c.1554C>T	c.(1552-1554)agC>agT	p.S518S		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	518	LDL-receptor class A 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GAGACAACAGCGACGAGCAGG	0.662													T	130068297	C	T	130068297	2	4	364	1	0	0	0	0	0	0	0	1	15307	767	27	1		1	ST14	11	130068297	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7897	130068297	4938219	9233	32735											
ST14	6768	broad.mit.edu	37	chr11	130078384	130078384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcccctggggtgcaggagCgcaggctcaagcgcatcatc	7	5	15	14	3	2	0	2	0	0	0	3	1	2	1	2	4	3	4	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130078384C>T	ENST00000278742.5	+	17	2492	c.2074C>T	c.(2074-2076)Cgc>Tgc	p.R692C		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	692	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGCAGGAGCGCAGGCTCAA	0.622													T	130078384	C	T	130078384	3	4	364	1	0	0	0	0	1	0	0	0	15307	768	27	1	2140	1	ST14	11	130078384	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10087	130078384	4928132	9234	32736											
ST14	6768	broad.mit.edu	37	chr11	130079624	130079624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccaggccggtgtggtgaGctggggagacggctgcgctc	4	8	18	11	3	0	2	0	1	0	1	2	3	1	2	2	6	2	3	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130079624G>A	ENST00000278742.5	+	19	2892	c.2474G>A	c.(2473-2475)aGc>aAc	p.S825N		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	825	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	GGTGTGGTGAGCTGGGGAGAC	0.647													A	130079624	G	A	130079624	3	1	364	1	0	0	0	0	1	0	0	0	15307	971	34	2	2548	2	ST14	11	130079624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1240	130079624	4926892	9235	32737											
ZBTB44	29068	broad.mit.edu	37	chr11	130131194	130131194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactttacaggactttcaGgagacataacaatgtagctt	14	11	7	9	0	1	1	1	0	0	1	1	3	1	2	0	2	3	2	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130131194G>T	ENST00000525842.1	-	2	942	c.575C>A	c.(574-576)cCt>cAt	p.P192H	ZBTB44_ENST00000530205.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000397753.1_Missense_Mutation_p.P192H|ZBTB44_ENST00000357899.4_Missense_Mutation_p.P192H	NM_014155.4	NP_054874.3	Q8NCP5	ZBT44_HUMAN	zinc finger and BTB domain containing 44	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0192)|Lung(977;0.235)		AGGACTTTCAGGAGACATAAC	0.463													T	130131194	G	T	130131194	3	4	364	1	0	0	0	0	1	0	0	0	17646	1000	35	4	806	4	ZBTB44	11	130131194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51570	130131194	4875322	9236	32738											
ADAMTS8	11095	broad.mit.edu	37	chr11	130284492	130284492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtgcccaggcccgcaCggcgtgccgtcagcccaggg	6	3	16	16	4	1	1	1	0	0	1	1	1	1	1	4	4	3	1	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130284492C>T	ENST00000257359.6	-	5	2206	c.1500G>A	c.(1498-1500)ccG>ccA	p.P500P		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	500	Disintegrin.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CAGGCCCGCACGGCGTGCCGT	0.667													T	130284492	C	T	130284492	2	4	364	1	0	0	0	0	0	0	0	1	272	523	19	1		1	ADAMTS8	11	130284492	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	153298	130284492	4722024	9237	32739											
ADAMTS15	170689	broad.mit.edu	37	chr11	130331475	130331475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctctgtcattgaggAcgatgggcttccatcagcct	8	11	11	11	1	3	1	2	1	1	0	4	3	4	2	2	2	3	3	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130331475A>G	ENST00000299164.2	+	2	1049	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	350	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GTCATTGAGGACGATGGGCTT	0.607													G	130331475	A	G	130331475	3	3	364	1	0	0	0	0	1	0	0	0	260	275	10	3	1055	3	ADAMTS15	11	130331475	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46983	130331475	4675041	9238	32740											
SNX19	399979	broad.mit.edu	37	chr11	130784436	130784436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctggcccctccagcaaagCtgtaacagaggcggtaacat	11	8	10	12	1	1	1	0	0	1	1	2	1	2	1	3	3	4	4	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784436C>A	ENST00000265909.4	-	1	1968	c.1399G>T	c.(1399-1401)Gct>Tct	p.A467S	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.A467S	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	467					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		TCCAGCAAAGCTGTAACAGAG	0.537													A	130784436	C	A	130784436	3	1	364	1	0	0	0	0	1	0	0	0	14984	797	28	4	1623	4	SNX19	11	130784436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	452961	130784436	4222080	9239	32741											
SNX19	399979	broad.mit.edu	37	chr11	130784470	130784470	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacatctccttgttctatCtccttgtctgctgtgtcaat	6	18	6	11	0	5	0	1	0	4	0	7	0	5	0	2	0	2	3	2	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130784470C>A	ENST00000265909.4	-	1	1934	c.1365G>T	c.(1363-1365)gaG>gaT	p.E455D	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.E455D	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	455					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		CTTGTTCTATCTCCTTGTCTG	0.547													A	130784470	C	A	130784470	3	1	364	1	0	0	0	0	1	0	0	0	14984	912	32	4	1657	4	SNX19	11	130784470	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	130784470	4222046	9240	32742											
SNX19	399979	broad.mit.edu	37	chr11	130785000	130785000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgttcgggggcactggCtgggcagggtgctggatctc	3	9	20	9	1	1	0	0	0	1	0	3	1	1	1	0	7	1	6	0	7	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785000C>T	ENST00000265909.4	-	1	1404	c.835G>A	c.(835-837)Gcc>Acc	p.A279T	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Missense_Mutation_p.A279T	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	279					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GGGGCACTGGCTGGGCAGGGT	0.562													T	130785000	C	T	130785000	3	4	364	1	0	0	0	0	1	0	0	0	14984	797	28	2	2187	2	SNX19	11	130785000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	530	130785000	4221516	9241	32743											
SNX19	399979	broad.mit.edu	37	chr11	130785540	130785540	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgcggttgatctcccgttCcagctgcctttctgcctcag	3	13	11	14	2	3	1	1	1	2	0	5	1	4	1	4	2	4	3	4	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:130785540C>A	ENST00000265909.4	-	1	864	c.295G>T	c.(295-297)Gaa>Taa	p.E99*	SNX19_ENST00000530356.1_Intron|SNX19_ENST00000528555.1_Intron|SNX19_ENST00000539184.1_Intron|SNX19_ENST00000533318.1_Intron|SNX19_ENST00000533214.1_Nonsense_Mutation_p.E99*	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	99	PXA.				cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		ATCTCCCGTTCCAGCTGCCTT	0.557													A	130785540	C	A	130785540	4	1	364	1	0	0	0	0	0	1	0	0	14984	864	30	4	2727	4	SNX19	11	130785540	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	540	130785540	4220976	9242	32744											
IGSF9B	22997	broad.mit.edu	37	chr11	133789708	133789708	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtccttcgaggggaaggCgtctgtccaaacacgtccaa	9	7	11	14	4	1	0	0	0	1	0	5	2	4	1	4	3	1	0	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133789708C>T	ENST00000321016.8	-	18	4142	c.3912G>A	c.(3910-3912)acG>acA	p.T1304T	IGSF9B_ENST00000533871.2_Silent_p.T1304T			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1304	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GAGGGGAAGGCGTCTGTCCAA	0.687													T	133789708	C	T	133789708	2	4	364	1	0	0	0	0	0	0	0	1	7664	755	27	1		1	IGSF9B	11	133789708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3004168	133789708	1216808	9243	32745											
IGSF9B	22997	broad.mit.edu	37	chr11	133790517	133790517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagggctcaggggagcGccctcctgtaggtgtctgag	5	7	16	13	1	2	1	1	1	1	0	3	2	3	2	4	4	1	2	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133790517G>A	ENST00000321016.8	-	18	3333	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R1035C			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	1035	Pro-rich.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		TCAGGGGAGCGCCCTCCTGTA	0.662													A	133790517	G	A	133790517	3	1	364	1	0	0	0	0	1	0	0	0	7664	1087	38	1	954	1	IGSF9B	11	133790517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	809	133790517	1215999	9244	32746											
IGSF9B	22997	broad.mit.edu	37	chr11	133791002	133791002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaaggggaagccctcgatgCgcctgctcttcagcgagggc	7	6	15	13	4	2	0	1	0	1	0	3	4	2	1	2	3	4	1	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133791002C>T	ENST00000321016.8	-	18	2848	c.2618G>A	c.(2617-2619)cGc>cAc	p.R873H	IGSF9B_ENST00000533871.2_Missense_Mutation_p.R873H			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	873						integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GCCCTCGATGCGCCTGCTCTT	0.662													T	133791002	C	T	133791002	3	4	364	1	0	0	0	0	1	0	0	0	7664	768	27	1	1439	1	IGSF9B	11	133791002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	485	133791002	1215514	9245	32747											
IGSF9B	22997	broad.mit.edu	37	chr11	133799568	133799568	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcacagaggtccgtaccaAactgagaatgtctgctcgta	12	9	9	11	2	2	2	1	1	1	2	4	3	3	2	2	1	3	3	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:133799568A>C	ENST00000321016.8	-	12	1859	c.1629T>G	c.(1627-1629)gtT>gtG	p.V543V	IGSF9B_ENST00000533871.2_Silent_p.V543V			Q9UPX0	TUTLB_HUMAN	immunoglobulin superfamily, member 9B	543	Fibronectin type-III 1.					integral to membrane|plasma membrane				breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(18)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	all_hematologic(175;0.127)	all_cancers(12;1.58e-21)|all_epithelial(12;5.17e-16)|all_lung(97;1.6e-05)|Lung NSC(97;3.86e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;7.19e-10)|BRCA - Breast invasive adenocarcinoma(10;9.69e-09)|all cancers(11;1.23e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00328)|Lung(977;0.221)		GTCCGTACCAAACTGAGAATG	0.622													C	133799568	A	C	133799568	2	2	364	1	0	0	0	0	0	0	0	1	7664	1	1	5		5	IGSF9B	11	133799568	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8566	133799568	1206948	9246	32748											
JAM3	83700	broad.mit.edu	37	chr11	134009793	134009793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccagcaatcgaaccccaGtggtacaggaatttgaaagt	15	8	9	9	1	0	1	0	1	0	0	2	3	1	2	3	2	3	2	3	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134009793G>T	ENST00000299106.4	+	2	283	c.124G>T	c.(124-126)Gtg>Ttg	p.V42L	JAM3_ENST00000524969.1_3'UTR|JAM3_ENST00000529443.2_Missense_Mutation_p.V87L|JAM3_ENST00000441717.3_Missense_Mutation_p.V42L			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	42	Ig-like V-type.				angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCGAACCCCAGTGGTACAGGA	0.438											OREG0021547	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	134009793	G	T	134009793	3	4	364	1	0	0	0	0	1	0	0	0	8002	1029	36	4	265	4	JAM3	11	134009793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210225	134009793	996723	9247	32749											
JAM3	83700	broad.mit.edu	37	chr11	134018710	134018710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactacatccgcactgacgaGgaggtaatcatttagtaaac	15	9	8	9	2	1	1	1	1	0	0	2	3	2	2	1	2	3	3	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134018710G>T	ENST00000299106.4	+	8	1053	c.894G>T	c.(892-894)gaG>gaT	p.E298D	JAM3_ENST00000529443.2_Missense_Mutation_p.E343D|JAM3_ENST00000441717.3_Missense_Mutation_p.E247D			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	298					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		GCACTGACGAGGAGGTAATCA	0.463													T	134018710	G	T	134018710	3	4	364	1	0	0	0	0	1	0	0	0	8002	991	35	4	1059	4	JAM3	11	134018710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8917	134018710	987806	9248	32750											
NCAPD3	23310	broad.mit.edu	37	chr11	134023044	134023044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctaaacttacggtttatcaGgcagtgataaacataagatg	15	11	9	6	1	1	2	1	1	0	1	1	2	1	2	0	2	3	3	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134023044G>T	ENST00000534548.2	-	34	4443	c.4379C>A	c.(4378-4380)cCt>cAt	p.P1460H	NCAPD3_ENST00000526787.2_Intron	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	1460					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CGGTTTATCAGGCAGTGATAA	0.433													T	134023044	G	T	134023044	3	4	364	1	0	0	0	0	1	0	0	0	10282	1000	35	4	125	4	NCAPD3	11	134023044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4334	134023044	983472	9249	32751											
NCAPD3	23310	broad.mit.edu	37	chr11	134063963	134063963	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttccggacagacactgcaGggtcccgacactggtcctgc	7	7	12	15	2	0	1	0	0	0	1	3	3	3	2	3	3	2	2	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134063963G>T	ENST00000534548.2	-	15	1836	c.1772C>A	c.(1771-1773)cCt>cAt	p.P591H		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	591					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		AGACACTGCAGGGTCCCGACA	0.458													T	134063963	G	T	134063963	3	4	364	1	0	0	0	0	1	0	0	0	10282	1000	35	4	2808	4	NCAPD3	11	134063963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40919	134063963	942553	9250	32752											
ACAD8	27034	broad.mit.edu	37	chr11	134130998	134130998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagactgtgctgtccctgtgGccaacagaattgggagcgag	10	8	14	9	1	0	2	0	0	0	2	1	4	1	3	2	2	3	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134130998G>A	ENST00000281182.4	+	7	872	c.766G>A	c.(766-768)Gcc>Acc	p.A256T	ACAD8_ENST00000537423.1_Missense_Mutation_p.A179T|ACAD8_ENST00000374752.4_Missense_Mutation_p.A129T|ACAD8_ENST00000543332.1_Missense_Mutation_p.A158T|ACAD8_ENST00000524547.1_3'UTR	NM_014384.2	NP_055199.1	Q9UKU7	ACAD8_HUMAN	acyl-CoA dehydrogenase family, member 8	256					branched chain family amino acid catabolic process|lipid metabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(175;0.127)	all_cancers(12;8e-23)|all_epithelial(12;2.59e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|all_neural(223;0.0189)|Medulloblastoma(222;0.0245)|Esophageal squamous(93;0.0559)		Epithelial(10;1.92e-10)|all cancers(11;2.26e-09)|BRCA - Breast invasive adenocarcinoma(10;8.73e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00154)|Lung(977;0.21)		TGTCCCTGTGGCCAACAGAAT	0.572													A	134130998	G	A	134130998	3	1	364	1	0	0	0	0	1	0	0	0	110	1203	42	2	792	2	ACAD8	11	134130998	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67035	134130998	875518	9251	32753											
GLB1L3	112937	broad.mit.edu	37	chr11	134179596	134179596	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttccatggtggaaccaaCtttggtttcatgaacggggc	9	12	12	8	1	1	1	1	1	0	0	2	2	2	2	2	5	3	2	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134179596C>T	ENST00000431683.2	+	11	1038	c.1038C>T	c.(1036-1038)aaC>aaT	p.N346N		NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	346					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GTGGAACCAACTTTGGTTTCA	0.478													T	134179596	C	T	134179596	2	4	364	1	0	0	0	0	0	0	0	1	6486	564	20	2		2	GLB1L3	11	134179596	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48598	134179596	826920	9252	32754											
GLB1L2	89944	broad.mit.edu	37	chr11	134212785	134212785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactatttccgtgtgcccaGggagtactggagggaccgcc	7	8	13	13	2	0	0	0	0	0	0	1	3	1	3	5	3	2	1	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134212785G>T	ENST00000535456.2	+	2	412	c.224G>T	c.(223-225)aGg>aTg	p.R75M	GLB1L2_ENST00000389881.3_Missense_Mutation_p.R75M|GLB1L2_ENST00000339772.7_Missense_Mutation_p.R75M	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	75					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		CGTGTGCCCAGGGAGTACTGG	0.612													T	134212785	G	T	134212785	3	4	364	1	0	0	0	0	1	0	0	0	6485	1000	35	4	230	4	GLB1L2	11	134212785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33189	134212785	793731	9253	32755											
GLB1L2	89944	broad.mit.edu	37	chr11	134239698	134239698	+	Splice_Site	SNP	G	G	T																															acagggcccggtgtcttgcaGactatgatgctgtgctgaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239698G>T	ENST00000535456.2	+	11	1215		c.e11-1		GLB1L2_ENST00000529077.1_Splice_Site|GLB1L2_ENST00000339772.7_Splice_Site|GLB1L2_ENST00000389881.3_Splice_Site	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2						carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GTGTCTTGCAGACTATGATGC	0.547													T	134239698	G	T	134239698	5	4	364	1	0	0	0	0	0	0	1	0	6485	956	33	4	1069	4	GLB1L2	11	134239698	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26913	134239698	766818	9254	32756	84	2									
GLB1L2	89944	broad.mit.edu	37	chr11	134239705	134239705	+	Missense_Mutation	SNP	A	A	C																															ccggtgtcttgcagactatgAtgctgtgctgacagaagccg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr11:134239705A>C	ENST00000535456.2	+	11	1222	c.1034A>C	c.(1033-1035)gAt>gCt	p.D345A	GLB1L2_ENST00000529077.1_3'UTR|GLB1L2_ENST00000339772.7_Missense_Mutation_p.D345A|GLB1L2_ENST00000389881.3_Missense_Mutation_p.D345A	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	345					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GCAGACTATGATGCTGTGCTG	0.552													C	134239705	A	C	134239705	3	2	364	1	0	0	0	0	1	0	0	0	6485	333	12	5	1076	5	GLB1L2	11	134239705	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7	134239705	766811	9255	32757	84	2									
IQSEC3	440073	broad.mit.edu	37	chr12	247931	247931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcccggggatgacgccGcggagacccccggcctgccc	4	2	16	19	6	0	2	0	1	0	1	0	4	0	3	7	5	1	0	7	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:247931G>A	ENST00000538872.1	+	4	1520	c.1402G>A	c.(1402-1404)Gcg>Acg	p.A468T	RP11-598F7.4_ENST00000505893.2_RNA|IQSEC3_ENST00000382841.2_Missense_Mutation_p.A165T|IQSEC3_ENST00000326261.4_Missense_Mutation_p.A468T			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	468					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		ggATGACGCCGCGGAGACCCC	0.761													A	247931	G	A	247931	3	1	364	1	0	0	0	0	1	0	0	0	7877	1087	38	1	1416	1	IQSEC3	12	247931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		247931	133603964	9256	32758											
IQSEC3	440073	broad.mit.edu	37	chr12	266718	266718	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctactgcatgtgcaacccCgaagtggttcagcagttcca	9	9	10	13	2	1	0	1	0	0	0	2	1	2	0	3	1	5	6	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266718C>T	ENST00000538872.1	+	7	2419	c.2301C>T	c.(2299-2301)ccC>ccT	p.P767P	IQSEC3_ENST00000382841.2_Silent_p.P464P|IQSEC3_ENST00000326261.4_Silent_p.P767P			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	767	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGTGCAACCCCGAAGTGGTTC	0.627													T	266718	C	T	266718	2	4	364	1	0	0	0	0	0	0	0	1	7877	639	23	1		1	IQSEC3	12	266718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18787	266718	133585177	9257	32759											
IQSEC3	440073	broad.mit.edu	37	chr12	266833	266833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgaccggaagatgatgCtggaggacttcatccgaaac	12	7	12	10	2	1	3	1	2	0	1	2	7	2	6	3	3	3	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:266833C>T	ENST00000538872.1	+	7	2534	c.2416C>T	c.(2416-2418)Ctg>Ttg	p.L806L	IQSEC3_ENST00000382841.2_Silent_p.L503L|IQSEC3_ENST00000326261.4_Silent_p.L806L			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	806	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		GAAGATGATGCTGGAGGACTT	0.592													T	266833	C	T	266833	2	4	364	1	0	0	0	0	0	0	0	1	7877	796	28	2		2	IQSEC3	12	266833	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115	266833	133585062	9258	32760											
IQSEC3	440073	broad.mit.edu	37	chr12	272684	272684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtgccccaccgccgcCtggtgtgctgcagccggctc	2	8	13	18	4	0	0	0	0	0	0	2	0	1	0	7	2	4	3	7	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:272684C>A	ENST00000538872.1	+	9	2726	c.2608C>A	c.(2608-2610)Ctg>Atg	p.L870M	IQSEC3_ENST00000382841.2_Missense_Mutation_p.L567M|IQSEC3_ENST00000326261.4_Missense_Mutation_p.L870M			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	870	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		CCACCGCCGCCTGGTGTGCTG	0.657													A	272684	C	A	272684	3	1	364	1	0	0	0	0	1	0	0	0	7877	680	24	4	2642	4	IQSEC3	12	272684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5851	272684	133579211	9259	32761											
SLC6A12	6539	broad.mit.edu	37	chr12	301737	301737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaggaaccagccaatggaGtatccccagggcgggtacac	11	4	13	13	1	0	0	0	0	0	0	1	2	1	2	5	4	3	2	5	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:301737G>A	ENST00000428720.1	-	15	2351	c.1608C>T	c.(1606-1608)taC>taT	p.Y536Y	SLC6A12_ENST00000359674.4_Silent_p.Y536Y|SLC6A12_ENST00000536824.1_Silent_p.Y536Y|SLC6A12_ENST00000424061.2_Silent_p.Y536Y|SLC6A12_ENST00000397296.2_Silent_p.Y536Y	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	536					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			AGCCAATGGAGTATCCCCAGG	0.567													A	301737	G	A	301737	2	1	364	1	0	0	0	0	0	0	0	1	14769	1024	36	2		2	SLC6A12	12	301737	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29053	301737	133550158	9260	32762											
SLC6A12	6539	broad.mit.edu	37	chr12	306028	306028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacagccttggggaaggCgatgaaggccagcccaggac	11	4	15	11	1	1	1	1	1	0	0	1	4	1	3	3	5	2	0	3	5	2	1	rs151111165	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:306028C>T	ENST00000428720.1	-	11	1839	c.1096G>A	c.(1096-1098)Gcc>Acc	p.A366T	SLC6A12_ENST00000359674.4_Missense_Mutation_p.A366T|SLC6A12_ENST00000536824.1_Missense_Mutation_p.A366T|SLC6A12_ENST00000424061.2_Missense_Mutation_p.A366T|SLC6A12_ENST00000397296.2_Missense_Mutation_p.A366T	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	366					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGGGGAAGGCGATGAAGGCC	0.582													T	306028	C	T	306028	3	4	364	1	0	0	0	0	1	0	0	0	14769	768	27	1	772	1	SLC6A12	12	306028	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4291	306028	133545867	9261	32763											
SLC6A12	6539	broad.mit.edu	37	chr12	318999	318999	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgcccagcccaatgatctCcccggccactgacagcacaa	11	6	7	17	1	1	2	0	2	1	0	2	2	1	2	5	1	3	1	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:318999C>A	ENST00000428720.1	-	3	897	c.154G>T	c.(154-156)Gag>Tag	p.E52*	SLC6A12_ENST00000359674.4_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000536824.1_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000424061.2_Nonsense_Mutation_p.E52*|SLC6A12_ENST00000397296.2_Nonsense_Mutation_p.E52*	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	52					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			CCAATGATCTCCCCGGCCACT	0.562													A	318999	C	A	318999	4	1	364	1	0	0	0	0	0	1	0	0	14769	864	30	4	1746	4	SLC6A12	12	318999	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12971	318999	133532896	9262	32764											
KDM5A	5927	broad.mit.edu	37	chr12	459813	459813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggcagaatctttctccGcccatccttcaccggaaatc	8	12	6	15	2	4	1	1	0	3	1	7	2	5	2	4	2	0	1	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:459813G>A	ENST00000399788.2	-	10	1644	c.1282C>T	c.(1282-1284)Cgg>Tgg	p.R428W	KDM5A_ENST00000382815.4_Missense_Mutation_p.R428W	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	428					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATCTTTCTCCGCCCATCCTTC	0.428			T	NUP98	AML								A	459813	G	A	459813	3	1	364	1	0	0	0	0	1	0	0	0	8191	1086	38	1	3866	1	KDM5A	12	459813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140814	459813	133392082	9263	32765											
KDM5A	5927	broad.mit.edu	37	chr12	464374	464374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcatttgcatgttaaatgCgtctgacctgttggtaactt	8	17	8	8	1	2	1	1	1	2	0	3	1	2	1	1	1	3	4	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:464374C>T	ENST00000399788.2	-	7	1182	c.820G>A	c.(820-822)Gca>Aca	p.A274T	KDM5A_ENST00000382815.4_Missense_Mutation_p.A274T	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	274					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATGTTAAATGCGTCTGACCTG	0.373			T	NUP98	AML								T	464374	C	T	464374	3	4	364	1	0	0	0	0	1	0	0	0	8191	768	27	1	4340	1	KDM5A	12	464374	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4561	464374	133387521	9264	32766											
B4GALNT3	283358	broad.mit.edu	37	chr12	665976	665976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcccaagagcccaagctgtGctggcctcagggtttctcct	6	9	12	14	0	2	1	1	0	1	1	3	1	2	1	4	3	3	3	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:665976G>A	ENST00000266383.5	+	15	2337	c.2324G>A	c.(2323-2325)tGc>tAc	p.C775Y		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	775						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			CCCAAGCTGTGCTGGCCTCAG	0.652													A	665976	G	A	665976	3	1	364	1	0	0	0	0	1	0	0	0	1273	1319	46	2	2382	2	B4GALNT3	12	665976	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201602	665976	133185919	9265	32767											
B4GALNT3	283358	broad.mit.edu	37	chr12	667216	667216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctaagtggaaactttgaaCgctcagctggacttcaggct	11	10	11	9	1	2	1	2	1	0	0	2	3	2	3	0	3	4	4	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:667216C>T	ENST00000266383.5	+	17	2582	c.2569C>T	c.(2569-2571)Cgc>Tgc	p.R857C		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	857						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAACTTTGAACGCTCAGCTGG	0.557													T	667216	C	T	667216	3	4	364	1	0	0	0	0	1	0	0	0	1273	536	19	1	2635	1	B4GALNT3	12	667216	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1240	667216	133184679	9266	32768											
B4GALNT3	283358	broad.mit.edu	37	chr12	668483	668483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactgggaggtgaatgggttCgggctgcttggcatctacaa	8	11	15	7	1	1	1	0	1	1	0	2	2	1	2	0	5	3	4	0	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:668483C>T	ENST00000266383.5	+	19	2797	c.2784C>T	c.(2782-2784)ttC>ttT	p.F928F		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	928						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGAATGGGTTCGGGCTGCTTG	0.612													T	668483	C	T	668483	2	4	364	1	0	0	0	0	0	0	0	1	1273	883	31	1		1	B4GALNT3	12	668483	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1267	668483	133183412	9267	32769											
WNK1	65125	broad.mit.edu	37	chr12	960934	960934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgctgctgccctcaaaagGattgtataaatgaggtaggt	11	11	12	7	0	1	1	1	1	0	0	1	2	1	2	1	3	3	5	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:960934G>A	ENST00000340908.4	+	1	76	c.76G>A	c.(76-78)Gat>Aat	p.D26N	WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Intron|WNK1_ENST00000540360.1_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000535572.1_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCTCAAAAGGATTGTATAAA	0.308													A	960934	G	A	960934	3	1	364	1	0	0	0	0	1	0	0	0	17479	1189	41	2		2	WNK1	12	960934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	292451	960934	132890961	9268	32770											
ERC1	23085	broad.mit.edu	37	chr12	1291148	1291148	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgagcgagagaagcaaGaggaaattgataactacaaa	20	5	12	4	1	0	5	0	2	0	3	0	9	0	6	0	1	4	1	0	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1291148G>T	ENST00000397203.2	+	10	2339	c.1933G>T	c.(1933-1935)Gag>Tag	p.E645*	ERC1_ENST00000543086.3_Nonsense_Mutation_p.E617*|ERC1_ENST00000546231.2_Nonsense_Mutation_p.E645*|ERC1_ENST00000360905.4_Nonsense_Mutation_p.E645*|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Nonsense_Mutation_p.E645*|ERC1_ENST00000355446.5_Nonsense_Mutation_p.E645*			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	645					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGAGAAGCAAGAGGAAATTGA	0.413													T	1291148	G	T	1291148	4	4	364	1	0	0	0	0	0	1	0	0	5251	943	33	4	1967	4	ERC1	12	1291148	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	330214	1291148	132560747	9269	32771											
WNT5B	81029	broad.mit.edu	37	chr12	1755144	1755144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggagctggtcaacagccGcttcacccagcccaccccgg	7	5	11	18	2	2	0	2	0	0	0	2	1	2	1	5	3	4	3	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1755144G>A	ENST00000397196.2	+	5	1038	c.806G>A	c.(805-807)cGc>cAc	p.R269H	WNT5B_ENST00000310594.3_Missense_Mutation_p.R269H|WNT5B_ENST00000537031.1_Missense_Mutation_p.R269H|WNT5B_ENST00000545747.1_3'UTR	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	269					angiogenesis|anterior/posterior pattern formation|cell migration involved in gastrulation|cellular response to retinoic acid|chondrocyte differentiation|convergent extension involved in axis elongation|convergent extension involved in gastrulation|dorsal/ventral axis specification|endocrine pancreas development|fat cell differentiation|lens fiber cell development|negative regulation of canonical Wnt receptor signaling pathway|neuron differentiation|positive regulation of cell migration|positive regulation of fat cell differentiation|respiratory system development|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled-2 binding			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GTCAACAGCCGCTTCACCCAG	0.706													A	1755144	G	A	1755144	3	1	364	1	0	0	0	0	1	0	0	0	17494	1087	38	1	820	1	WNT5B	12	1755144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	463996	1755144	132096751	9270	32772											
ADIPOR2	79602	broad.mit.edu	37	chr12	1863574	1863574	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccagatataaggctcaGaaaagggcaccaactggatg	16	5	12	8	0	1	3	1	0	0	3	1	4	1	4	2	3	2	2	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1863574G>T	ENST00000357103.4	+	2	316	c.65G>T	c.(64-66)aGa>aTa	p.R22I		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	22					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATAAGGCTCAGAAAAGGGCAC	0.473													T	1863574	G	T	1863574	3	4	364	1	0	0	0	0	1	0	0	0	319	942	33	4	67	4	ADIPOR2	12	1863574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108430	1863574	131988321	9271	32773											
ADIPOR2	79602	broad.mit.edu	37	chr12	1887032	1887032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccaggtatgggaaggtCggtggcgagtgatccctcat	7	10	15	9	2	2	1	1	1	1	0	4	3	3	2	2	5	1	1	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1887032C>T	ENST00000357103.4	+	4	555	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	ADIPOR2_ENST00000544470.1_3'UTR	NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	102					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			ATGGGAAGGTCGGTGGCGAGT	0.478													T	1887032	C	T	1887032	3	4	364	1	0	0	0	0	1	0	0	0	319	875	31	1	314	1	ADIPOR2	12	1887032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23458	1887032	131964863	9272	32774											
ADIPOR2	79602	broad.mit.edu	37	chr12	1889674	1889674	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcgcccaaatatctcctTtgtggcccctctgcaagaga	8	12	8	13	1	2	1	0	0	2	1	4	2	2	1	4	1	1	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1889674T>A	ENST00000357103.4	+	5	772	c.521T>A	c.(520-522)tTt>tAt	p.F174Y		NM_024551.2	NP_078827.2	Q86V24	ADR2_HUMAN	adiponectin receptor 2	174					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane	hormone binding|receptor activity			endometrium(1)|large_intestine(3)|lung(7)|stomach(1)	12	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000382)			AATATCTCCTTTGTGGCCCCT	0.418													A	1889674	T	A	1889674	3	1	364	1	0	0	0	0	1	0	0	0	319	1841	64	5	535	5	ADIPOR2	12	1889674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2642	1889674	131962221	9273	32775											
CACNA2D4	93589	broad.mit.edu	37	chr12	1909168	1909168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctccgtgcactcacccTcggcccctctgtcgtaccag	5	8	9	19	3	2	0	1	0	1	0	5	0	3	0	5	1	3	4	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:1909168T>C	ENST00000382722.5	-	33	3334	c.2972A>G	c.(2971-2973)gAg>gGg	p.E991G	CACNA2D4_ENST00000538450.1_Missense_Mutation_p.E121G|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.E991G|CACNA2D4_ENST00000585708.1_Missense_Mutation_p.E927G|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.E136G|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.E927G|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.E966G	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	991						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GCACTCACCCTCGGCCCCTCT	0.602													C	1909168	T	C	1909168	3	2	364	1	0	0	0	0	1	0	0	0	2577	1551	54	3	465	3	CACNA2D4	12	1909168	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19494	1909168	131942727	9274	32776											
CACNA1C	775	broad.mit.edu	37	chr12	2656628	2656628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaggaggcactccggCgggcatgcttgatcagaaga	11	7	15	8	2	1	4	1	2	0	2	2	5	2	5	1	4	1	3	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2656628C>T	ENST00000335762.5	+	10	1668	c.1403C>T	c.(1402-1404)gCg>gTg	p.A468V	CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399603.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399634.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000399617.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000491104.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000406454.3_Intron|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000399591.1_Intron			Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	463					axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	GGCACTCCGGCGGGCATGCTT	0.493													T	2656628	C	T	2656628	3	4	364	1	0	0	0	0	1	0	0	0	2566	783	27	1		1	CACNA1C	12	2656628	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	747460	2656628	131195267	9275	32777											
CACNA1C	775	broad.mit.edu	37	chr12	2774794	2774794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atggacaactttgactacctGacaagggactggtccatcct	11	10	9	11	0	0	2	0	2	0	0	2	4	2	4	3	3	2	0	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2774794G>A	ENST00000399655.1	+	36	4711	c.4446G>A	c.(4444-4446)ctG>ctA	p.L1482L	CACNA1C_ENST00000399638.1_Silent_p.L1510L|CACNA1C_ENST00000399621.1_Silent_p.L1482L|CACNA1C_ENST00000327702.7_Silent_p.L1482L|CACNA1C_ENST00000399603.1_Silent_p.L1482L|CACNA1C_ENST00000335762.5_Silent_p.L1507L|CACNA1C_ENST00000347598.4_Silent_p.L1530L|CACNA1C_ENST00000399637.1_Silent_p.L1482L|CACNA1C_ENST00000399634.1_Silent_p.L1482L|CACNA1C_ENST00000402845.3_Silent_p.L1482L|CACNA1C_ENST00000399641.1_Silent_p.L1482L|CACNA1C_ENST00000399629.1_Silent_p.L1499L|CACNA1C_ENST00000399617.1_Silent_p.L1482L|CACNA1C_ENST00000344100.3_Silent_p.L1504L|CACNA1C_ENST00000399649.1_Silent_p.L1469L|CACNA1C_ENST00000399601.1_Silent_p.L1482L|CACNA1C_ENST00000406454.3_Silent_p.L1482L|CACNA1C_ENST00000399595.1_Silent_p.L1471L|CACNA1C_ENST00000399606.1_Silent_p.L1502L|CACNA1C_ENST00000399644.1_Silent_p.L1482L|CACNA1C_ENST00000399597.1_Silent_p.L1482L|CACNA1C_ENST00000399591.1_Silent_p.L1471L	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	1530	Dihydropyridine binding (By similarity).				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TTGACTACCTGACAAGGGACT	0.488													A	2774794	G	A	2774794	2	1	364	1	0	0	0	0	0	0	0	1	2566	1277	45	2		2	CACNA1C	12	2774794	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118166	2774794	131077101	9276	32778											
FKBP4	2288	broad.mit.edu	37	chr12	2910319	2910319	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaacaacgagaagggcctcTtccgccggggagaggcccac	10	3	14	14	3	1	2	0	0	1	2	2	4	2	2	4	4	2	1	4	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2910319T>C	ENST00000001008.4	+	9	1256	c.1069T>C	c.(1069-1071)Ttc>Ctc	p.F357L	RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	357	Interaction with tubulin (By similarity).				negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	GAAGGGCCTCTTCCGCCGGGG	0.567													C	2910319	T	C	2910319	3	2	364	1	0	0	0	0	1	0	0	0	5959	1609	56	3	1103	3	FKBP4	12	2910319	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135525	2910319	130941576	9277	32779											
ITFG2	55846	broad.mit.edu	37	chr12	2930857	2930857	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcctctcccccggcaGggacactgaagctcatggaa	9	6	11	15	1	2	1	1	1	1	0	3	3	2	3	4	3	3	2	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2930857G>T	ENST00000228799.2	+	9	986		c.e9-1		ITFG2_ENST00000542548.1_Splice_Site|ITFG2_ENST00000419778.2_Splice_Site	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2											central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCCCCGGCAGGGACACTGAA	0.582													T	2930857	G	T	2930857	5	4	364	1	0	0	0	0	0	0	1	0	7928	1014	35	4	881	4	ITFG2	12	2930857	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20538	2930857	130921038	9278	32780											
ITFG2	55846	broad.mit.edu	37	chr12	2931989	2931989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaggaggtagttgcatgCgcctgggatggacagacata	11	8	15	7	1	0	2	0	1	0	1	0	5	0	5	1	4	2	3	1	4	2	3	rs61744187	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2931989C>T	ENST00000228799.2	+	10	1117	c.978C>T	c.(976-978)tgC>tgT	p.C326C	ITFG2_ENST00000542548.1_Silent_p.C214C|ITFG2_ENST00000419778.2_Silent_p.C149C	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	326										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TAGTTGCATGCGCCTGGGATG	0.522													T	2931989	C	T	2931989	2	4	364	1	0	0	0	0	0	0	0	1	7928	776	27	1		1	ITFG2	12	2931989	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1132	2931989	130919906	9279	32781											
ITFG2	55846	broad.mit.edu	37	chr12	2933326	2933326	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagaccagccaccacaGtgtgctccctcaagcctcca	10	6	6	19	0	1	1	1	0	0	1	4	1	4	1	7	0	3	1	7	0	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2933326G>A	ENST00000228799.2	+	12	1450	c.1311G>A	c.(1309-1311)caG>caA	p.Q437Q	ITFG2_ENST00000542548.1_Silent_p.Q325Q|ITFG2_ENST00000419778.2_Silent_p.Q260Q	NM_018463.3	NP_060933.3	Q969R8	ITFG2_HUMAN	integrin alpha FG-GAP repeat containing 2	437										central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGCCACCACAGTGTGCTCCCT	0.567													A	2933326	G	A	2933326	2	1	364	1	0	0	0	0	0	0	0	1	7928	1020	36	2		2	ITFG2	12	2933326	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1337	2933326	130918569	9280	32782											
FOXM1	2305	broad.mit.edu	37	chr12	2977736	2977736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggacacattaccttccagCctggcttggcaatgtgctta	8	12	10	11	0	0	0	0	0	0	0	1	1	1	1	3	3	3	3	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:2977736C>T	ENST00000342628.2	-	4	952	c.839G>A	c.(838-840)gGc>gAc	p.G280D	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000359843.3_Missense_Mutation_p.G280D|FOXM1_ENST00000361953.3_Missense_Mutation_p.G280D	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	280					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TACCTTCCAGCCTGGCTTGGC	0.488													T	2977736	C	T	2977736	3	4	364	1	0	0	0	0	1	0	0	0	6069	739	26	2	1594	2	FOXM1	12	2977736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44410	2977736	130874159	9281	32783											
TULP3	7289	broad.mit.edu	37	chr12	3039511	3039511	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaagccagaattcaacCgtatgtagttctgaaacttc	13	11	7	10	1	3	2	2	1	1	1	4	2	3	2	2	0	3	4	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3039511C>T	ENST00000448120.2	+	5	543	c.492C>T	c.(490-492)acC>acT	p.T164T	TULP3_ENST00000397132.2_Splice_Site_p.T164T	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	164					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			AGAATTCAACCGTATGTAGTT	0.333													T	3039511	C	T	3039511	5	4	364	1	0	0	0	0	0	0	1	0	16877	666	23	1	510	1	TULP3	12	3039511	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61775	3039511	130812384	9282	32784											
TULP3	7289	broad.mit.edu	37	chr12	3047393	3047393	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtcctatgtcctcaacttCcgtggccgggtcactcaggc	6	10	10	15	2	3	0	3	0	0	0	6	0	6	0	4	3	1	0	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3047393C>T	ENST00000448120.2	+	10	1188	c.1137C>T	c.(1135-1137)ttC>ttT	p.F379F	TULP3_ENST00000397132.2_Silent_p.F379F	NM_003324.4	NP_003315.2	O75386	TULP3_HUMAN	tubby like protein 3	379					G-protein coupled receptor protein signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|extracellular region|nucleus|plasma membrane	phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|large_intestine(4)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22			OV - Ovarian serous cystadenocarcinoma(31;0.000818)			TCCTCAACTTCCGTGGCCGGG	0.532													T	3047393	C	T	3047393	2	4	364	1	0	0	0	0	0	0	0	1	16877	854	30	2		2	TULP3	12	3047393	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7882	3047393	130804502	9283	32785											
TEAD4	7004	broad.mit.edu	37	chr12	3128322	3128322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctatgctgtccagcctcCgctgcctctgccaggtgggt	5	10	11	15	1	1	0	0	0	1	0	3	0	3	0	6	2	5	2	6	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3128322C>T	ENST00000359864.2	+	8	759	c.569C>T	c.(568-570)cCg>cTg	p.P190L	TEAD4_ENST00000358409.2_Missense_Mutation_p.P147L|TEAD4_ENST00000397122.2_Missense_Mutation_p.P61L	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	190					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			GTCCAGCCTCCGCTGCCTCTG	0.682													T	3128322	C	T	3128322	3	4	364	1	0	0	0	0	1	0	0	0	15841	652	23	1	591	1	TEAD4	12	3128322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80929	3128322	130723573	9284	32786											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788249	3788249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacttgggttattctggCtgaagaagaagtgacctggg	9	11	14	7	0	1	5	0	3	1	2	1	5	1	5	2	3	0	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788249C>T	ENST00000440314.2	-	6	829	c.356G>A	c.(355-357)aGc>aAc	p.S119N	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.S119N|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.S119N	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	119	EF-hand 2.				activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			GTTATTCTGGCTGAAGAAGAA	0.537													T	3788249	C	T	3788249	3	4	364	1	0	0	0	0	1	0	0	0	4976	797	28	2	2091	2	EFCAB4B	12	3788249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	659927	3788249	130063646	9285	32787											
EFCAB4B	84766	broad.mit.edu	37	chr12	3788265	3788265	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgaagaagaagtgacCtggggggtgcagggcacaag	11	5	18	7	0	0	4	0	2	0	2	0	4	0	4	1	5	1	3	1	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3788265C>A	ENST00000440314.2	-	6	814		c.e6-1		EFCAB4B_ENST00000444507.1_Splice_Site|EFCAB4B_ENST00000252322.1_Splice_Site	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B						activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			AAGAAGTGACCTGGGGGGTGC	0.522													A	3788265	C	A	3788265	5	1	364	1	0	0	0	0	0	0	1	0	4976	695	24	4	2107	4	EFCAB4B	12	3788265	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16	3788265	130063630	9286	32788											
PARP11	57097	broad.mit.edu	37	chr12	3939117	3939117	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccactgggtatctgacGtgtccatgtcatccacttca	8	11	8	14	1	3	1	2	1	1	0	5	1	5	1	4	1	1	1	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:3939117G>A	ENST00000427057.2	-	0	333				PARP11_ENST00000447133.3_De_novo_Start_OutOfFrame|PARP11_ENST00000228820.4_Missense_Mutation_p.T29M|PARP11_ENST00000397096.2_Missense_Mutation_p.T22M			Q9NR21	PAR11_HUMAN	poly (ADP-ribose) polymerase family, member 11								NAD+ ADP-ribosyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	17			all cancers(3;1.58e-07)|OV - Ovarian serous cystadenocarcinoma(31;0.00287)|GBM - Glioblastoma multiforme(3;0.0141)|COAD - Colon adenocarcinoma(12;0.0264)			GGTATCTGACGTGTCCATGTC	0.413													A	3939117	G	A	3939117	1	1	364	1	0	0	0	0	0	0	0	0	11532	1145	40	1		1	PARP11	12	3939117	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150852	3939117	129912778	9287	32789											
C12orf4	57102	broad.mit.edu	37	chr12	4600386	4600386	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgctctccttaagcaccaGggtatagtcatttcctaaaa	11	12	6	12	1	2	0	1	0	1	0	5	0	4	0	4	1	1	3	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4600386G>T	ENST00000261250.3	-	12	1542	c.1455C>A	c.(1453-1455)ccC>ccA	p.P485P	C12orf4_ENST00000545746.1_Silent_p.P485P	NM_020374.2	NP_065107.1	Q9NQ89	CL004_HUMAN	chromosome 12 open reading frame 4	485										NS(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)	BRCA - Breast invasive adenocarcinoma(232;0.0281)		TTAAGCACCAGGGTATAGTCA	0.348													T	4600386	G	T	4600386	2	4	364	1	0	0	0	0	0	0	0	1	1698	987	35	4		4	C12orf4	12	4600386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	661269	4600386	129251509	9288	32790											
NDUFA9	4704	broad.mit.edu	37	chr12	4763994	4763994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatccattctcttttaggacGcatggggtcacaggtaatca	11	12	9	9	1	3	0	2	0	1	0	5	1	4	1	1	4	0	2	1	4	3	4	rs35263902	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4763994G>A	ENST00000266544.5	+	3	244	c.224G>A	c.(223-225)cGc>cAc	p.R75H	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	75					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	CTTTTAGGACGCATGGGGTCA	0.383													A	4763994	G	A	4763994	3	1	364	1	0	0	0	0	1	0	0	0	10348	1087	38	1	234	1	NDUFA9	12	4763994	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163608	4763994	129087901	9289	32791											
NDUFA9	4704	broad.mit.edu	37	chr12	4764024	4764024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtaatcataccctatcGgtgtgataaatatgacatca	15	11	7	8	1	2	2	2	2	0	0	3	2	2	2	1	2	1	1	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4764024G>A	ENST00000266544.5	+	3	274	c.254G>A	c.(253-255)cGg>cAg	p.R85Q	RP11-500M8.7_ENST00000536588.1_3'UTR|NDUFA9_ENST00000542369.1_3'UTR	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	85					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding	p.R85L(2)		NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	ATACCCTATCGGTGTGATAAA	0.403													A	4764024	G	A	4764024	3	1	364	1	0	0	0	0	1	0	0	0	10348	1116	39	1	264	1	NDUFA9	12	4764024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	4764024	129087871	9290	32792											
NDUFA9	4704	broad.mit.edu	37	chr12	4791407	4791407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttccacctggtgaagtaCatctttgctgtggctcacag	7	14	9	11	0	2	1	1	1	1	0	3	1	3	1	2	2	2	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4791407C>T	ENST00000266544.5	+	9	857	c.837C>T	c.(835-837)taC>taT	p.Y279Y	RP11-234B24.6_ENST00000544741.2_Silent_p.Y38Y	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	279					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	TGGTGAAGTACATCTTTGCTG	0.428													T	4791407	C	T	4791407	2	4	364	1	0	0	0	0	0	0	0	1	10348	489	17	2		2	NDUFA9	12	4791407	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27383	4791407	129060488	9291	32793											
NDUFA9	4704	broad.mit.edu	37	chr12	4796192	4796192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaactcaaggccattgAggtgctgcggcgtcatcgca	9	8	13	11	3	2	1	2	1	0	0	3	2	2	2	1	4	3	2	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4796192A>G	ENST00000266544.5	+	11	1072	c.1052A>G	c.(1051-1053)gAg>gGg	p.E351G	NDUFA9_ENST00000540688.1_Missense_Mutation_p.E110G|RP11-234B24.6_ENST00000544741.2_Intron	NM_005002.4	NP_004993.1	Q16795	NDUA9_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 9, 39kDa	351					mitochondrial electron transport, NADH to ubiquinone|sodium ion transport	mitochondrial matrix|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity|protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21					NADH(DB00157)	AAGGCCATTGAGGTGCTGCGG	0.517													G	4796192	A	G	4796192	3	3	364	1	0	0	0	0	1	0	0	0	10348	304	11	3	1094	3	NDUFA9	12	4796192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4785	4796192	129055703	9292	32794											
GALNT8	26290	broad.mit.edu	37	chr12	4872542	4872542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagccactccacaccatcGtgggctatggaagagtatgt	11	9	11	10	1	0	2	0	1	0	1	2	3	1	3	3	2	1	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:4872542G>A	ENST00000252318.2	+	8	1820	c.1483G>A	c.(1483-1485)Gtg>Atg	p.V495M		NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)	495						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCACACCATCGTGGGCTATGG	0.418													A	4872542	G	A	4872542	3	1	364	1	0	0	0	0	1	0	0	0	6273	1145	40	1	1513	1	GALNT8	12	4872542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76350	4872542	128979353	9293	32795											
KCNA1	3736	broad.mit.edu	37	chr12	5021550	5021550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatctttttcctcttcatcGgggtcatcctgttttctagt	4	20	6	11	1	6	0	3	0	3	0	9	0	8	0	2	2	0	1	2	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5021550G>A	ENST00000382545.3	+	2	2113	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	336					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CCTCTTCATCGGGGTCATCCT	0.552													A	5021550	G	A	5021550	3	1	364	1	0	0	0	0	1	0	0	0	8059	1116	39	1	1008	1	KCNA1	12	5021550	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	149008	5021550	128830345	9294	32796											
KCNA5	3741	broad.mit.edu	37	chr12	5154306	5154306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatcgtggagaccacgtgCgtcatctggttcaccttcga	7	12	10	12	4	4	1	3	0	1	1	6	3	4	1	2	2	1	1	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154306C>T	ENST00000252321.3	+	1	1222	c.993C>T	c.(991-993)tgC>tgT	p.C331C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	331						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						AGACCACGTGCGTCATCTGGT	0.647													T	5154306	C	T	5154306	2	4	364	1	0	0	0	0	0	0	0	1	8064	776	27	1		1	KCNA5	12	5154306	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132756	5154306	128697589	9295	32797											
KCNA5	3741	broad.mit.edu	37	chr12	5154806	5154806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggcaagatcgtgggctCgctgtgtgccatcgccgggg	4	8	19	10	4	0	1	0	0	0	1	3	1	0	1	2	5	1	3	2	5	1	0	rs145163163		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5154806C>T	ENST00000252321.3	+	1	1722	c.1493C>T	c.(1492-1494)tCg>tTg	p.S498L		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	498						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						ATCGTGGGCTCGCTGTGTGCC	0.607													T	5154806	C	T	5154806	3	4	364	1	0	0	0	0	1	0	0	0	8064	893	31	1	1495	1	KCNA5	12	5154806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	500	5154806	128697089	9296	32798											
ANO2	57101	broad.mit.edu	37	chr12	5744492	5744492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacactatcaccccaaagaCgattgagaatgtcagggcaa	16	7	8	10	1	2	2	2	1	0	2	2	4	2	2	2	1	1	1	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:5744492C>T	ENST00000356134.5	-	18	1716	c.1645G>A	c.(1645-1647)Gtc>Atc	p.V549I	ANO2_ENST00000327087.8_Missense_Mutation_p.V548I|ANO2_ENST00000538154.1_5'UTR|ANO2_ENST00000546188.1_Missense_Mutation_p.V549I	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	553						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						ACCCCAAAGACGATTGAGAAT	0.483													T	5744492	C	T	5744492	3	4	364	1	0	0	0	0	1	0	0	0	697	536	19	1	1394	1	ANO2	12	5744492	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	589686	5744492	128107403	9297	32799											
VWF	7450	broad.mit.edu	37	chr12	6091141	6091141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggacactcttttgcaCtcctccttcctgcaggctga	5	12	11	13	0	1	1	0	1	1	0	4	2	4	2	3	4	2	3	3	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6091141C>A	ENST00000261405.5	-	42	7352	c.7098G>T	c.(7096-7098)gaG>gaT	p.E2366D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2366					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	CTCTTTTGCACTCCTCCTTCC	0.597													A	6091141	C	A	6091141	3	1	364	1	0	0	0	0	1	0	0	0	17348	564	20	4	1387	4	VWF	12	6091141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346649	6091141	127760754	9298	32800											
VWF	7450	broad.mit.edu	37	chr12	6173434	6173434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggagggggagctggacGtcctggccatccatggcaac	8	7	15	11	1	1	0	1	0	0	0	3	3	3	3	3	6	2	2	3	6	1	1	rs111867665		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6173434G>A	ENST00000261405.5	-	12	1664	c.1410C>T	c.(1408-1410)gaC>gaT	p.D470D		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	470	VWFD 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGAGCTGGACGTCCTGGCCAT	0.632													A	6173434	G	A	6173434	2	1	364	1	0	0	0	0	0	0	0	1	17348	1136	40	1		1	VWF	12	6173434	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82293	6173434	127678461	9299	32801											
VWF	7450	broad.mit.edu	37	chr12	6180463	6180463	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcggcaggtcgcctacCtggacattcttcattgctgc	7	11	11	12	2	2	1	1	1	1	0	3	2	2	2	2	3	4	2	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6180463C>A	ENST00000261405.5	-	10	1410	c.1156G>T	c.(1156-1158)Ggg>Tgg	p.G386W		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	386					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	GGTCGCCTACCTGGACATTCT	0.547													A	6180463	C	A	6180463	5	1	364	1	0	0	0	0	0	0	1	0	17348	695	24	4	7457	4	VWF	12	6180463	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7029	6180463	127671432	9300	32802											
MRPL51	51258	broad.mit.edu	37	chr12	6601555	6601555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcctctttcggatacaaCgttgcaattcattccctttc	7	18	4	12	2	2	0	1	0	1	0	6	1	4	1	2	1	3	2	2	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6601555C>T	ENST00000229238.3	-	3	730	c.269G>A	c.(268-270)cGt>cAt	p.R90H	MRPL51_ENST00000543164.1_5'UTR|MRPL51_ENST00000543703.1_5'UTR	NM_016497.3	NP_057581.2	Q4U2R6	RM51_HUMAN	mitochondrial ribosomal protein L51	90					translation	mitochondrial large ribosomal subunit	protein binding|structural constituent of ribosome			kidney(2)|large_intestine(1)|lung(3)	6						TCGGATACAACGTTGCAATTC	0.438													T	6601555	C	T	6601555	3	4	364	1	0	0	0	0	1	0	0	0	9891	536	19	1	121	1	MRPL51	12	6601555	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421092	6601555	127250340	9301	32803											
NCAPD2	9918	broad.mit.edu	37	chr12	6619249	6619249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccctcatagtcactttcGaagtatagatcctggcctca	9	14	6	12	1	3	1	3	0	0	1	6	2	5	1	3	1	0	1	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6619249G>A	ENST00000315579.5	+	4	1011	c.212G>A	c.(211-213)cGa>cAa	p.R71Q	NCAPD2_ENST00000545962.1_Intron	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	71	Interactions with SMC2 and SMC4.				cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						AGTCACTTTCGAAGTATAGAT	0.463													A	6619249	G	A	6619249	3	1	364	1	0	0	0	0	1	0	0	0	10281	1058	37	1	222	1	NCAPD2	12	6619249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17694	6619249	127232646	9302	32804											
NCAPD2	9918	broad.mit.edu	37	chr12	6637969	6637969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgctgctcatcgaccccGagcctcagattgctgccctg	5	9	11	16	3	2	1	2	0	0	1	3	3	2	1	4	1	5	3	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6637969G>A	ENST00000315579.5	+	26	4223	c.3424G>A	c.(3424-3426)Gag>Aag	p.E1142K	NCAPD2_ENST00000545962.1_Missense_Mutation_p.E1097K	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1142					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CATCGACCCCGAGCCTCAGAT	0.592													A	6637969	G	A	6637969	3	1	364	1	0	0	0	0	1	0	0	0	10281	1059	37	1	3522	1	NCAPD2	12	6637969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18720	6637969	127213926	9303	32805											
NCAPD2	9918	broad.mit.edu	37	chr12	6638999	6638999	+	Nonsense_Mutation	SNP	C	C	T																															cacagctgcccctcacagagCgaggcctccgtaagatgctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6638999C>T	ENST00000315579.5	+	29	4511	c.3712C>T	c.(3712-3714)Cga>Tga	p.R1238*	NCAPD2_ENST00000545962.1_Nonsense_Mutation_p.R1193*	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1238					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CCTCACAGAGCGAGGCCTCCG	0.522													T	6638999	C	T	6638999	4	4	364	1	0	0	0	0	0	1	0	0	10281	760	27	1	3822	1	NCAPD2	12	6638999	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1030	6638999	127212896	9304	32806	85	2									
NCAPD2	9918	broad.mit.edu	37	chr12	6639008	6639008	+	Missense_Mutation	SNP	C	C	T																															ccctcacagagcgaggcctcCgtaagatgcttgacaatttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6639008C>T	ENST00000315579.5	+	29	4520	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	NCAPD2_ENST00000545962.1_Missense_Mutation_p.R1196C	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	1241					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GCGAGGCCTCCGTAAGATGCT	0.532													T	6639008	C	T	6639008	3	4	364	1	0	0	0	0	1	0	0	0	10281	652	23	1	3831	1	NCAPD2	12	6639008	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	6639008	127212887	9305	32807	85	2									
IFFO1	25900	broad.mit.edu	37	chr12	6658995	6658995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttggcggtgatgtcgatgCggcggcagatgtccatatcc	6	10	15	10	4	0	2	0	1	0	1	3	3	2	2	2	4	1	2	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6658995C>T	ENST00000436152.2	-	5	636	c.77G>A	c.(76-78)cGc>cAc	p.R26H	IFFO1_ENST00000336604.4_Missense_Mutation_p.R333H|IFFO1_ENST00000356896.4_Missense_Mutation_p.R333H|IFFO1_ENST00000465801.1_Missense_Mutation_p.R26H|IFFO1_ENST00000396840.2_Missense_Mutation_p.R333H			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	333						intermediate filament				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						GATGTCGATGCGGCGGCAGAT	0.597													T	6658995	C	T	6658995	3	4	364	1	0	0	0	0	1	0	0	0	7568	768	27	1	721	1	IFFO1	12	6658995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19987	6658995	127192900	9306	32808											
CHD4	1108	broad.mit.edu	37	chr12	6700693	6700693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccaccatcgatgcgttcGtatttataaccttcatgttc	9	16	5	11	3	1	0	1	0	0	0	5	1	2	0	3	0	2	3	3	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6700693G>A	ENST00000309577.6	-	22	3442	c.3279C>T	c.(3277-3279)taC>taT	p.Y1093Y	CHD4_ENST00000544484.1_Silent_p.Y1090Y|CHD4_ENST00000544040.1_Silent_p.Y1086Y|CHD4_ENST00000357008.2_Silent_p.Y1093Y			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1093	Helicase C-terminal.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CGATGCGTTCGTATTTATAAC	0.438													A	6700693	G	A	6700693	2	1	364	1	0	0	0	0	0	0	0	1	3357	1140	40	1		1	CHD4	12	6700693	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41698	6700693	127151202	9307	32809											
CHD4	1108	broad.mit.edu	37	chr12	6702687	6702687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgtcacccacataggttacGacatacatgtctggagccca	11	10	8	12	1	2	0	1	0	1	0	2	2	2	1	2	2	3	1	2	2	3	4	rs112803905		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6702687G>A	ENST00000309577.6	-	16	2572	c.2409C>T	c.(2407-2409)gtC>gtT	p.V803V	CHD4_ENST00000544484.1_Silent_p.V800V|CHD4_ENST00000544040.1_Silent_p.V796V|CHD4_ENST00000357008.2_Silent_p.V803V			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	803	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CATAGGTTACGACATACATGT	0.527													A	6702687	G	A	6702687	2	1	364	1	0	0	0	0	0	0	0	1	3357	1045	37	1		1	CHD4	12	6702687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1994	6702687	127149208	9308	32810											
CHD4	1108	broad.mit.edu	37	chr12	6711198	6711198	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctcttcttctctttcttAggtccaagcttcttcttctt	3	22	4	12	0	7	0	0	0	7	0	9	0	8	0	1	1	2	2	1	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6711198A>G	ENST00000309577.6	-	4	529	c.366T>C	c.(364-366)ccT>ccC	p.P122P	CHD4_ENST00000544484.1_Silent_p.P119P|CHD4_ENST00000544040.1_Silent_p.P115P|CHD4_ENST00000357008.2_Silent_p.P122P			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	122					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						TCTCTTTCTTAGGTCCAAGCT	0.517													G	6711198	A	G	6711198	2	3	364	1	0	0	0	0	0	0	0	1	3357	407	15	3		3	CHD4	12	6711198	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8511	6711198	127140697	9309	32811											
ING4	51147	broad.mit.edu	37	chr12	6761527	6761527	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatccacaggcatatccaaCacatcagaggggtggacact	13	6	11	11	0	1	1	1	0	0	1	3	3	3	3	2	5	1	1	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6761527C>T	ENST00000341550.4	-	6	601	c.555G>A	c.(553-555)gtG>gtA	p.V185V	ING4_ENST00000412586.2_Silent_p.V183V|ING4_ENST00000486287.1_Intron|ING4_ENST00000446105.2_Silent_p.V182V|ING4_ENST00000423703.2_Intron|ING4_ENST00000396807.4_Silent_p.V186V|ING4_ENST00000444704.2_Silent_p.V162V			Q9UNL4	ING4_HUMAN	inhibitor of growth family, member 4	186					apoptosis|cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA replication|histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation|negative regulation of cell proliferation|negative regulation of growth|negative regulation of transcription, DNA-dependent|positive regulation of apoptosis	histone acetyltransferase complex	protein binding|transcription coactivator activity|zinc ion binding			central_nervous_system(3)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)	10						GCATATCCAACACATCAGAGG	0.507													T	6761527	C	T	6761527	2	4	364	1	0	0	0	0	0	0	0	1	7796	465	17	2		2	ING4	12	6761527	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50329	6761527	127090368	9310	32812											
COPS7A	50813	broad.mit.edu	37	chr12	6833966	6833966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttggagaactgctggaCatgcccaatgttagagaggt	10	11	14	6	0	0	2	0	0	0	2	0	5	0	3	1	3	3	3	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6833966C>T	ENST00000543155.1	+	2	626	c.144C>T	c.(142-144)gaC>gaT	p.D48D	COPS7A_ENST00000534877.1_Silent_p.D48D|COPS7A_ENST00000542150.1_Intron|COPS7A_ENST00000534947.1_Silent_p.D48D|COPS7A_ENST00000538410.1_Silent_p.D48D|COPS7A_ENST00000539735.1_Silent_p.D48D|COPS7A_ENST00000229251.3_Silent_p.D48D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	48					cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						AACTGCTGGACATGCCCAATG	0.557													T	6833966	C	T	6833966	2	4	364	1	0	0	0	0	0	0	0	1	3769	477	17	2		2	COPS7A	12	6833966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72439	6833966	127017929	9311	32813											
COPS7A	50813	broad.mit.edu	37	chr12	6838441	6838441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgcagtgttgctggaggCtcttgccctgcgtaatgtgc	6	13	13	9	1	1	0	0	0	1	0	1	1	1	1	1	2	5	5	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6838441C>A	ENST00000543155.1	+	5	838	c.356C>A	c.(355-357)gCt>gAt	p.A119D	COPS7A_ENST00000534877.1_Missense_Mutation_p.A119D|COPS7A_ENST00000542150.1_3'UTR|COPS7A_ENST00000534947.1_Missense_Mutation_p.A119D|COPS7A_ENST00000538410.1_Missense_Mutation_p.A119D|COPS7A_ENST00000539735.1_Missense_Mutation_p.A119D|COPS7A_ENST00000229251.3_Missense_Mutation_p.A119D	NM_001164094.1	NP_001157566.1	Q9UBW8	CSN7A_HUMAN	COP9 signalosome subunit 7A	119	PCI.				cullin deneddylation	cytoplasm|signalosome				endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	10						TTGCTGGAGGCTCTTGCCCTG	0.577													A	6838441	C	A	6838441	3	1	364	1	0	0	0	0	1	0	0	0	3769	797	28	4	370	4	COPS7A	12	6838441	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4475	6838441	127013454	9312	32814											
LAG3	3902	broad.mit.edu	37	chr12	6886956	6886956	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcctgtactttctccataGgtgcccaacgctctgggaga	8	11	9	13	1	2	1	0	0	2	1	4	2	3	1	3	2	3	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6886956G>T	ENST00000203629.2	+	7	1633		c.e7-1			NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3							integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						TTTCTCCATAGGTGCCCAACG	0.517													T	6886956	G	T	6886956	5	4	364	1	0	0	0	0	0	0	1	0	8659	1014	35	4	1326	4	LAG3	12	6886956	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48515	6886956	126964939	9313	32815											
CD4	920	broad.mit.edu	37	chr12	6909495	6909495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccagcagccactcaGggaaagaaagtggtgctggg	10	6	13	12	0	1	1	1	0	0	1	3	2	3	2	3	3	3	2	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6909495G>T	ENST00000011653.4	+	3	330	c.72G>T	c.(70-72)caG>caT	p.Q24H	CD4_ENST00000541982.1_Intron|CD4_ENST00000538827.1_Intron	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	24					cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)				CAGCCACTCAGGGAAAGAAAG	0.522													T	6909495	G	T	6909495	3	4	364	1	0	0	0	0	1	0	0	0	3044	991	35	4	78	4	CD4	12	6909495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22539	6909495	126942400	9314	32816											
GPR162	27239	broad.mit.edu	37	chr12	6933544	6933544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggctggcacaacaacggCgagcgctactatgcccgcgg	9	6	13	13	5	0	0	0	0	0	0	0	1	0	0	1	4	5	3	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6933544C>T	ENST00000311268.3	+	2	1267	c.480C>T	c.(478-480)ggC>ggT	p.G160G	GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	160						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAACAACGGCGAGCGCTACT	0.577													T	6933544	C	T	6933544	2	4	364	1	0	0	0	0	0	0	0	1	6720	755	27	1		1	GPR162	12	6933544	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24049	6933544	126918351	9315	32817											
GPR162	27239	broad.mit.edu	37	chr12	6934736	6934736	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccatggcacagacgctgCtgctgccctccttcatctgg	5	10	10	16	1	2	1	1	0	1	1	4	1	4	1	3	2	3	5	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6934736C>T	ENST00000311268.3	+	3	1742	c.955C>T	c.(955-957)Ctg>Ttg	p.L319L	GPR162_ENST00000382315.3_Silent_p.L15L|GPR162_ENST00000428545.2_Silent_p.L35L	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	319						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACAGACGCTGCTGCTGCCCTC	0.637											OREG0021636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6934736	C	T	6934736	2	4	364	1	0	0	0	0	0	0	0	1	6720	796	28	2		2	GPR162	12	6934736	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1192	6934736	126917159	9316	32818											
LEPREL2	10536	broad.mit.edu	37	chr12	6946155	6946155	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttcctatttaggatgcaGctggggctggagccaggtct	6	12	13	10	0	1	0	0	0	1	0	3	2	3	2	3	5	3	3	3	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6946155G>T	ENST00000251761.8	+	0	1498				LEPREL2_ENST00000606935.1_RNA|LEPREL2_ENST00000396725.2_RNA|LEPREL2_ENST00000538102.1_RNA	NM_014262.3	NP_055077.2			leprecan-like 2											breast(1)|cervix(1)|endometrium(2)|lung(6)	10						TTAGGATGCAGCTGGGGCTGG	0.647													T	6946155	G	T	6946155	1	4	364	0	1	0	0	0	0	0	0	0	8790	971	34	4		4	LEPREL2	12	6946155	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11419	6946155	126905740	9317	32819											
CDCA3	83461	broad.mit.edu	37	chr12	6958590	6958590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccatctattgcgcataGaacctggggtgggtaaggcg	8	11	14	8	2	1	1	0	0	1	1	2	1	2	1	2	4	2	3	2	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6958590G>T	ENST00000538862.2	-	5	1449	c.548C>A	c.(547-549)tCt>tAt	p.S183Y	CDCA3_ENST00000535406.1_Missense_Mutation_p.S183Y|CDCA3_ENST00000540683.1_Intron|CDCA3_ENST00000422785.3_Intron|CDCA3_ENST00000229265.6_Missense_Mutation_p.S158Y			Q99618	CDCA3_HUMAN	cell division cycle associated 3	183					cell division|mitosis	cytosol				breast(1)|endometrium(1)|large_intestine(4)|lung(1)|stomach(1)	8						ATTGCGCATAGAACCTGGGGT	0.507													T	6958590	G	T	6958590	3	4	364	1	0	0	0	0	1	0	0	0	3117	942	33	4	266	4	CDCA3	12	6958590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12435	6958590	126893305	9318	32820											
TPI1	7167	broad.mit.edu	37	chr12	6978315	6978315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggtggtcctggggcactcaGagagaaggcatgtctttggg	7	9	18	7	0	2	2	1	0	1	2	3	3	3	2	1	6	0	2	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:6978315G>A	ENST00000229270.4	+	3	740	c.403G>A	c.(403-405)Gag>Aag	p.E135K	TPI1_ENST00000535434.1_Missense_Mutation_p.E16K|TPI1_ENST00000488464.2_Missense_Mutation_p.E16K|TPI1_ENST00000396705.5_Missense_Mutation_p.E98K	NM_001159287.1	NP_001152759.1	P60174	TPIS_HUMAN	triosephosphate isomerase 1	98					fatty acid biosynthetic process|gluconeogenesis|glycolysis|pentose-phosphate shunt	cytosol	triose-phosphate isomerase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|skin(2)	19						GGGGCACTCAGAGAGAAGGCA	0.522											OREG0021638	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6978315	G	A	6978315	3	1	364	1	0	0	0	0	1	0	0	0	16504	943	33	2	413	2	TPI1	12	6978315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19725	6978315	126873580	9319	32821											
LRRC23	10233	broad.mit.edu	37	chr12	7015617	7015617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgctcctacatccatctgcGctatgtggatatttctgaga	8	13	9	11	2	2	1	0	1	2	1	4	3	4	2	2	1	2	2	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7015617G>A	ENST00000007969.8	+	4	501	c.281G>A	c.(280-282)cGc>cAc	p.R94H	LRRC23_ENST00000323702.5_Missense_Mutation_p.R94H|LRRC23_ENST00000436789.1_Missense_Mutation_p.R94H|LRRC23_ENST00000449039.1_3'UTR|LRRC23_ENST00000433346.1_Missense_Mutation_p.R94H|LRRC23_ENST00000429740.1_Missense_Mutation_p.R94H|LRRC23_ENST00000443597.2_Missense_Mutation_p.R94H	NM_001135217.1|NM_201650.2	NP_001128689.1|NP_964013.1	Q53EV4	LRC23_HUMAN	leucine rich repeat containing 23	94										NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	13						ATCCATCTGCGCTATGTGGAT	0.527													A	7015617	G	A	7015617	3	1	364	1	0	0	0	0	1	0	0	0	9048	1087	38	1	291	1	LRRC23	12	7015617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37302	7015617	126836278	9320	32822											
ENO2	2026	broad.mit.edu	37	chr12	7027207	7027207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctttcgggatgccatgcGactaggtgcagaggtctacc	8	9	14	10	2	1	1	0	0	1	1	2	4	1	2	2	3	5	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7027207G>A	ENST00000535366.1	+	6	1174	c.548G>A	c.(547-549)cGa>cAa	p.R183Q	ENO2_ENST00000541477.1_Missense_Mutation_p.R183Q|ENO2_ENST00000229277.1_Missense_Mutation_p.R183Q|ENO2_ENST00000544774.1_Missense_Mutation_p.R140Q|ENO2_ENST00000538763.1_Missense_Mutation_p.R140Q|ENO2_ENST00000545045.2_Intron			P09104	ENOG_HUMAN	enolase 2 (gamma, neuronal)	183					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex|plasma membrane	magnesium ion binding|phosphopyruvate hydratase activity			endometrium(3)|large_intestine(2)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GATGCCATGCGACTAGGTGCA	0.537													A	7027207	G	A	7027207	3	1	364	1	0	0	0	0	1	0	0	0	5163	1058	37	1	570	1	ENO2	12	7027207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11590	7027207	126824688	9321	32823											
ATN1	1822	broad.mit.edu	37	chr12	7045646	7045646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcccagcttcccaggcattgCccagctacccccactctttc	6	10	5	20	0	1	0	0	0	1	0	4	0	3	0	5	1	4	3	5	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7045646C>T	ENST00000356654.4	+	5	1453	c.1216C>T	c.(1216-1218)Ccc>Tcc	p.P406S	ATN1_ENST00000396684.2_Missense_Mutation_p.P406S	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	406					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						CCAGGCATTGCCCAGCTACCC	0.567													T	7045646	C	T	7045646	3	4	364	1	0	0	0	0	1	0	0	0	1116	739	26	2	1230	2	ATN1	12	7045646	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18439	7045646	126806249	9322	32824											
PHB2	11331	broad.mit.edu	37	chr12	7077078	7077078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtttggcttctacagcaGctgtgtactctcggctaaag	7	14	10	10	1	2	0	0	0	2	0	3	0	2	0	0	2	4	6	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7077078G>T	ENST00000535923.1	-	5	865	c.584C>A	c.(583-585)gCt>gAt	p.A195D	PHB2_ENST00000399433.2_Missense_Mutation_p.A195D|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Missense_Mutation_p.A195D|PHB2_ENST00000542912.1_Missense_Mutation_p.A195D	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	195					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						TTCTACAGCAGCTGTGTACTC	0.582													T	7077078	G	T	7077078	3	4	364	1	0	0	0	0	1	0	0	0	11892	971	34	4	335	4	PHB2	12	7077078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31432	7077078	126774817	9323	32825											
C1S	716	broad.mit.edu	37	chr12	7177275	7177275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacccatgggctggtggaGcgctcattaatgagtactgg	10	9	13	9	1	1	1	1	1	0	0	1	2	1	2	1	4	3	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177275G>T	ENST00000406697.1	+	15	2015	c.1387G>T	c.(1387-1389)Gcg>Tcg	p.A463S	C1S_ENST00000328916.3_Missense_Mutation_p.A463S|C1S_ENST00000495061.1_3'UTR|C1S_ENST00000360817.5_Missense_Mutation_p.A463S|C1S_ENST00000402681.3_Missense_Mutation_p.A296S			P09871	C1S_HUMAN	complement component 1, s subcomponent	463	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	GGCTGGTGGAGCGCTCATTAA	0.493													T	7177275	G	T	7177275	3	4	364	1	0	0	0	0	1	0	0	0	1994	971	34	4	1429	4	C1S	12	7177275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100197	7177275	126674620	9324	32826											
C1S	716	broad.mit.edu	37	chr12	7177630	7177630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagagatcgtgctgttcGcctcaaggcggcaaggttac	10	8	14	9	3	1	2	1	0	0	2	3	4	1	2	1	3	2	4	1	3	4	2	rs150394565		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7177630G>A	ENST00000406697.1	+	15	2370	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	C1S_ENST00000328916.3_Missense_Mutation_p.R581H|C1S_ENST00000360817.5_Missense_Mutation_p.R581H|C1S_ENST00000402681.3_Missense_Mutation_p.R414H			P09871	C1S_HUMAN	complement component 1, s subcomponent	581	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33					Abciximab(DB00054)|Adalimumab(DB00051)|Basiliximab(DB00074)|Cetuximab(DB00002)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Rituximab(DB00073)|Trastuzumab(DB00072)	CGTGCTGTTCGCCTCAAGGCG	0.522													A	7177630	G	A	7177630	3	1	364	1	0	0	0	0	1	0	0	0	1994	1087	38	1	1784	1	C1S	12	7177630	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	355	7177630	126674265	9325	32827											
C1R	715	broad.mit.edu	37	chr12	7188195	7188195	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatagcccatcaagcccaGgtcgtagaaggtatcgttgt	11	9	11	10	2	1	1	1	0	0	1	3	2	1	1	2	2	2	3	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188195G>T	ENST00000542285.1	-	11	1752	c.1603C>A	c.(1603-1605)Ctg>Atg	p.L535M				P00736	C1R_HUMAN	complement component 1, r subcomponent	587	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	ATCAAGCCCAGGTCGTAGAAG	0.567													T	7188195	G	T	7188195	3	4	364	1	0	0	0	0	1	0	0	0	1992	991	35	4	362	4	C1R	12	7188195	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10565	7188195	126663700	9326	32828											
C1R	715	broad.mit.edu	37	chr12	7188444	7188444	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtgttccttgggatacaGggtgtgggcagctgtgagga	6	12	17	6	1	0	1	0	1	0	0	2	3	1	3	1	4	2	3	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7188444G>T	ENST00000542285.1	-	11	1503	c.1354C>A	c.(1354-1356)Ctg>Atg	p.L452M				P00736	C1R_HUMAN	complement component 1, r subcomponent	504					complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TTGGGATACAGGGTGTGGGCA	0.597													T	7188444	G	T	7188444	3	4	364	1	0	0	0	0	1	0	0	0	1992	991	35	4	611	4	C1R	12	7188444	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	249	7188444	126663451	9327	32829											
C1R	715	broad.mit.edu	37	chr12	7241913	7241913	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctggtcataggggcagtgTacttgctggtggtcatcaat	8	12	14	7	0	3	0	3	0	0	0	3	0	3	0	0	5	3	4	0	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7241913T>C	ENST00000542285.1	-	5	890	c.741A>G	c.(739-741)gtA>gtG	p.V247V				P00736	C1R_HUMAN	complement component 1, r subcomponent	248	CUB 2.				complement activation, classical pathway|innate immune response|proteolysis	extracellular region	calcium ion binding|serine-type endopeptidase activity			endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|pancreas(1)	16					Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	AGGGGCAGTGTACTTGCTGGT	0.582													C	7241913	T	C	7241913	2	2	364	1	0	0	0	0	0	0	0	1	1992	1625	57	3		3	C1R	12	7241913	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53469	7241913	126609982	9328	32830											
C1RL	51279	broad.mit.edu	37	chr12	7249462	7249462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttatgggactcattcTgacggtagtcggggtgcaca	10	11	13	7	2	2	1	1	1	1	0	3	2	2	2	0	4	1	3	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7249462T>C	ENST00000266542.4	-	6	1081	c.989A>G	c.(988-990)cAg>cGg	p.Q330R	C1RL_ENST00000545280.1_Intron|C1RL_ENST00000504702.2_Intron|C1RL_ENST00000544702.1_3'UTR	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	330	Peptidase S1.				complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GGACTCATTCTGACGGTAGTC	0.582													C	7249462	T	C	7249462	3	2	364	1	0	0	0	0	1	0	0	0	1993	1580	55	3	478	3	C1RL	12	7249462	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7549	7249462	126602433	9329	32831											
PEX5	5830	broad.mit.edu	37	chr12	7362699	7362699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaggaggtgccatgtcGgagaacatctggagcaccct	10	7	15	9	1	1	2	0	1	1	1	2	5	1	4	2	5	3	1	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7362699G>A	ENST00000266563.5	+	15	1872	c.1689G>A	c.(1687-1689)tcG>tcA	p.S563S	PEX5_ENST00000434354.2_Silent_p.S615S|PEX5_ENST00000420616.2_Silent_p.S600S|PEX5_ENST00000412720.2_Silent_p.S621S|PEX5_ENST00000266564.3_Silent_p.S592S|PEX5_ENST00000455147.2_Silent_p.S600S	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	600					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GTGCCATGTCGGAGAACATCT	0.592													A	7362699	G	A	7362699	2	1	364	1	0	0	0	0	0	0	0	1	11825	1103	39	1		1	PEX5	12	7362699	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113237	7362699	126489196	9330	32832											
CD163L1	283316	broad.mit.edu	37	chr12	7519886	7519886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggtctccatctcatGgaataaattctcctcgagag	11	10	10	10	1	3	1	1	0	3	1	7	4	3	2	2	3	0	1	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7519886G>T	ENST00000313599.3	-	18	4282	c.4225C>A	c.(4225-4227)Cat>Aat	p.H1409N	CD163L1_ENST00000396630.1_Intron|CD163L1_ENST00000416109.2_Missense_Mutation_p.H1419N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1409						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TCCATCTCATGGAATAAATTC	0.488													T	7519886	G	T	7519886	3	4	364	1	0	0	0	0	1	0	0	0	2998	1348	47	4	144	4	CD163L1	12	7519886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157187	7519886	126332009	9331	32833											
CD163L1	283316	broad.mit.edu	37	chr12	7522096	7522096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttccctggccaaacgaaGcgtccctcagggcagccaga	10	5	11	15	2	1	1	1	0	0	1	3	2	3	1	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7522096G>A	ENST00000313599.3	-	15	3953	c.3896C>T	c.(3895-3897)gCt>gTt	p.A1299V	CD163L1_ENST00000396630.1_Missense_Mutation_p.A1299V|CD163L1_ENST00000416109.2_Missense_Mutation_p.A1309V			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1299	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCCAAACGAAGCGTCCCTCAG	0.592													A	7522096	G	A	7522096	3	1	364	1	0	0	0	0	1	0	0	0	2998	971	34	2	485	2	CD163L1	12	7522096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2210	7522096	126329799	9332	32834											
CD163L1	283316	broad.mit.edu	37	chr12	7527243	7527243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacacaccacgtgggcatcGctcaggtcccagccgtcatc	8	7	10	16	3	2	1	2	1	0	0	5	1	3	1	3	2	1	2	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7527243G>A	ENST00000313599.3	-	13	3261	c.3204C>T	c.(3202-3204)agC>agT	p.S1068S	CD163L1_ENST00000396630.1_Silent_p.S1068S|CD163L1_ENST00000416109.2_Silent_p.S1078S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1068	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.D1069fs*27(1)|p.S1068S(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CGTGGGCATCGCTCAGGTCCC	0.622											OREG0021653	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7527243	G	A	7527243	2	1	364	1	0	0	0	0	0	0	0	1	2998	1078	38	1		1	CD163L1	12	7527243	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5147	7527243	126324652	9333	32835											
CD163L1	283316	broad.mit.edu	37	chr12	7531861	7531861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccagcacacctgctgcttCcacccacaagcctcagctcc	8	8	5	20	0	1	0	1	0	0	0	4	0	4	0	6	0	5	4	6	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7531861C>T	ENST00000313599.3	-	9	2141	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	CD163L1_ENST00000544331.1_5'UTR|CD163L1_ENST00000396630.1_Missense_Mutation_p.G695E|CD163L1_ENST00000416109.2_Missense_Mutation_p.G705E			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	695	SRCR 7.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTGCTGCTTCCACCCACAAG	0.453													T	7531861	C	T	7531861	3	4	364	1	0	0	0	0	1	0	0	0	2998	855	30	2	2321	2	CD163L1	12	7531861	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4618	7531861	126320034	9334	32836											
CD163L1	283316	broad.mit.edu	37	chr12	7556246	7556246	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatatgctgtttatccaAatgtctctagcttcattact	11	16	5	9	0	2	1	1	0	1	1	4	1	3	1	1	0	3	3	1	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7556246A>G	ENST00000313599.3	-	6	1350	c.1293T>C	c.(1291-1293)atT>atC	p.I431I	CD163L1_ENST00000396630.1_Silent_p.I431I|CD163L1_ENST00000416109.2_Silent_p.I441I			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	431	SRCR 4.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGTTTATCCAAATGTCTCTAG	0.463													G	7556246	A	G	7556246	2	3	364	1	0	0	0	0	0	0	0	1	2998	10	1	3		3	CD163L1	12	7556246	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24385	7556246	126295649	9335	32837											
CD163	9332	broad.mit.edu	37	chr12	7640302	7640302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggctttagaaaaagacagCtatgactccctaaccctgtc	13	9	8	11	0	0	3	0	1	0	2	2	3	1	3	2	1	2	2	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7640302C>A	ENST00000396620.3	-	7	1887	c.1802G>T	c.(1801-1803)aGc>aTc	p.S601I	CD163_ENST00000432237.2_Intron|CD163_ENST00000541972.1_Intron|CD163_ENST00000359156.4_Intron			Q86VB7	C163A_HUMAN	CD163 molecule	579	SRCR 6.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AAAAAGACAGCTATGACTCCC	0.478													A	7640302	C	A	7640302	3	1	364	1	0	0	0	0	1	0	0	0	2997	812	28	4		4	CD163	12	7640302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84056	7640302	126211593	9336	32838											
CD163	9332	broad.mit.edu	37	chr12	7653811	7653811	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatcatgtttgcaatcccaAagagctgactcattcccacg	11	10	6	14	1	2	2	2	1	0	1	4	2	4	2	3	0	2	3	3	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7653811A>C	ENST00000359156.4	-	3	583	c.381T>G	c.(379-381)ctT>ctG	p.L127L	CD163_ENST00000432237.2_Silent_p.L127L|CD163_ENST00000541972.1_Silent_p.L115L|CD163_ENST00000396620.3_Silent_p.L127L	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	127	SRCR 1.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						TGCAATCCCAAAGAGCTGACT	0.478													C	7653811	A	C	7653811	2	2	364	1	0	0	0	0	0	0	0	1	2997	1	1	5		5	CD163	12	7653811	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13509	7653811	126198084	9337	32839											
APOBEC1	339	broad.mit.edu	37	chr12	7805417	7805417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagacgtcaaactcccagGgttcgattcttctcctgaaa	12	10	8	11	2	3	3	1	1	2	2	6	4	4	3	2	1	1	1	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7805417G>T	ENST00000229304.4	-	3	79	c.59C>A	c.(58-60)cCc>cAc	p.P20H		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	20					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						AAACTCCCAGGGTTCGATTCT	0.463													T	7805417	G	T	7805417	3	4	364	1	0	0	0	0	1	0	0	0	790	1232	43	4	663	4	APOBEC1	12	7805417	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151606	7805417	126046478	9338	32840											
SLC2A14	144195	broad.mit.edu	37	chr12	7985401	7985401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatggcaaagatcagagCtggggtgacctggagagaca	12	7	16	6	0	1	5	1	2	0	3	1	7	1	6	1	4	1	2	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:7985401C>T	ENST00000543909.1	-	8	856	c.97G>A	c.(97-99)Gct>Act	p.A33T	SLC2A14_ENST00000431042.2_Missense_Mutation_p.A10T|SLC2A14_ENST00000539924.1_Missense_Mutation_p.A48T|SLC2A14_ENST00000396589.2_Missense_Mutation_p.A33T|SLC2A14_ENST00000535295.1_5'UTR|SLC2A14_ENST00000340749.5_Missense_Mutation_p.A10T|SLC2A14_ENST00000542546.1_5'UTR|SLC2A14_ENST00000542505.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	33					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)		AAGATCAGAGCTGGGGTGACC	0.468											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7985401	C	T	7985401	3	4	364	1	0	0	0	0	1	0	0	0	14637	797	28	2	1501	2	SLC2A14	12	7985401	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179984	7985401	125866494	9339	32841											
SLC2A3	6515	broad.mit.edu	37	chr12	8088619	8088619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattatatcattcttaccttCtgtgtccccatcgctgtaat	9	17	4	11	1	3	0	1	0	2	0	5	0	4	0	3	0	1	2	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8088619C>A	ENST00000075120.7	-	1	252	c.12G>T	c.(10-12)caG>caT	p.Q4H		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	4					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		TTCTTACCTTCTGTGTCCCCA	0.358													A	8088619	C	A	8088619	3	1	364	1	0	0	0	0	1	0	0	0	14639	912	32	4	1518	4	SLC2A3	12	8088619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103218	8088619	125763276	9340	32842											
C3AR1	719	broad.mit.edu	37	chr12	8211725	8211725	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagctgtaacaggctaTcatgataacagagggcagca	16	7	11	7	0	1	3	1	2	0	1	1	3	1	3	0	2	4	5	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8211725T>C	ENST00000307637.4	-	2	1260	c.1057A>G	c.(1057-1059)Ata>Gta	p.I353V		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	353					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TAACAGGCTATCATGATAACA	0.517													C	8211725	T	C	8211725	3	2	364	1	0	0	0	0	1	0	0	0	2226	1435	50	3	395	3	C3AR1	12	8211725	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	123106	8211725	125640170	9341	32843											
C3AR1	719	broad.mit.edu	37	chr12	8212381	8212381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggccatccctacattgCgatgattctgacaccagatt	11	10	8	12	1	1	3	0	2	1	1	2	4	2	3	3	1	3	1	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212381C>T	ENST00000307637.4	-	2	604	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	134					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		CCCTACATTGCGATGATTCTG	0.478													T	8212381	C	T	8212381	3	4	364	1	0	0	0	0	1	0	0	0	2226	768	27	1	1051	1	C3AR1	12	8212381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	656	8212381	125639514	9342	32844											
C3AR1	719	broad.mit.edu	37	chr12	8212652	8212652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggccagccacccacagcaCcagcccattgcctggcaatc	10	4	8	19	0	0	0	0	0	0	0	1	0	0	0	6	2	4	2	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8212652C>T	ENST00000307637.4	-	2	333	c.130G>A	c.(130-132)Gtg>Atg	p.V44M		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	44					blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		ACCCACAGCACCAGCCCATTG	0.542													T	8212652	C	T	8212652	3	4	364	1	0	0	0	0	1	0	0	0	2226	507	18	2	1322	2	C3AR1	12	8212652	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	271	8212652	125639243	9343	32845											
CLEC4A	50856	broad.mit.edu	37	chr12	8278156	8278156	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaatttggcttcttcttcaGcttccaaggagaggactgcc	8	13	9	11	0	3	1	1	0	2	1	4	3	4	2	2	3	2	2	2	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8278156G>A	ENST00000229332.5	+	2	329		c.e2-1		CLEC4A_ENST00000345999.3_Intron|CLEC4A_ENST00000360500.3_Intron|CLEC4A_ENST00000352620.3_Splice_Site	NM_016184.3|NM_194447.2|NM_194450.2	NP_057268.1|NP_919429.2|NP_919432.1	Q9UMR7	CLC4A_HUMAN	C-type lectin domain family 4, member A						cell adhesion|cell surface receptor linked signaling pathway|innate immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(4)|prostate(1)	11				Kidney(36;0.0915)		TTCTTCTTCAGCTTCCAAGGA	0.418													A	8278156	G	A	8278156	5	1	364	1	0	0	0	0	0	0	1	0	3543	985	34	2	88	2	CLEC4A	12	8278156	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65504	8278156	125573739	9344	32846											
CLEC4E	26253	broad.mit.edu	37	chr12	8689848	8689848	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagttcaatggacaacAattcttgactgaacctagga	13	11	7	10	0	2	2	1	2	1	0	3	4	3	4	2	2	2	1	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8689848A>G	ENST00000299663.3	-	4	400	c.235T>C	c.(235-237)Tgt>Cgt	p.C79R	CLEC4E_ENST00000446457.2_Intron|CLEC4E_ENST00000545274.1_Intron	NM_014358.2	NP_055173.1	Q9ULY5	CLC4E_HUMAN	C-type lectin domain family 4, member E	79						integral to membrane	sugar binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12	Lung SC(5;0.184)					AATGGACAACAATTCTTGACT	0.443													G	8689848	A	G	8689848	3	3	364	1	0	0	0	0	1	0	0	0	3546	130	5	3	436	3	CLEC4E	12	8689848	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	411692	8689848	125162047	9345	32847											
AICDA	57379	broad.mit.edu	37	chr12	8757829	8757829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgaaggtcatgatggCtatttgcaccccggcgcggt	7	11	12	11	3	1	2	1	2	0	0	1	2	1	2	3	4	1	2	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8757829C>T	ENST00000229335.6	-	3	512	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	AICDA_ENST00000537228.1_Missense_Mutation_p.A137T	NM_020661.2	NP_065712.1	Q9GZX7	AICDA_HUMAN	activation-induced cytidine deaminase	137					B cell differentiation|DNA demethylation|mRNA processing|negative regulation of methylation-dependent chromatin silencing	cytoplasm	cytidine deaminase activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)	16	Lung SC(5;0.184)					GTCATGATGGCTATTTGCACC	0.627													T	8757829	C	T	8757829	3	4	364	1	0	0	0	0	1	0	0	0	422	797	28	2	199	2	AICDA	12	8757829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67981	8757829	125094066	9346	32848											
MFAP5	8076	broad.mit.edu	37	chr12	8803149	8803149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaccggccgatgcacagagTagagccttgtgcaggtaaat	12	8	12	9	2	0	2	0	0	0	2	0	3	0	2	3	2	4	4	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8803149T>C	ENST00000359478.2	-	8	471	c.284A>G	c.(283-285)tAc>tGc	p.Y95C	MFAP5_ENST00000396549.2_Missense_Mutation_p.Y85C|MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000543369.1_Missense_Mutation_p.Y73C|MFAP5_ENST00000433590.2_Missense_Mutation_p.Y70C|MFAP5_ENST00000540087.1_Missense_Mutation_p.Y85C	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	95						microfibril	extracellular matrix structural constituent			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ATGCACAGAGTAGAGCCTTGT	0.433													C	8803149	T	C	8803149	3	2	364	1	0	0	0	0	1	0	0	0	9593	1638	57	3	249	3	MFAP5	12	8803149	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45320	8803149	125048746	9347	32849											
RIMKLB	57494	broad.mit.edu	37	chr12	8866595	8866595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aactggactttagggctgtgGtgatggatgaggtggtgctg	7	12	18	4	0	0	2	0	2	0	0	0	4	0	4	0	6	2	2	0	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8866595G>A	ENST00000357529.3	+	3	1395	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	RIMKLB_ENST00000535829.1_Missense_Mutation_p.V45M|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Missense_Mutation_p.V45M	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	45					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TAGGGCTGTGGTGATGGATGA	0.428													A	8866595	G	A	8866595	3	1	364	1	0	0	0	0	1	0	0	0	13457	1261	44	2	135	2	RIMKLB	12	8866595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63446	8866595	124985300	9348	32850											
RIMKLB	57494	broad.mit.edu	37	chr12	8902618	8902618	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcaagccatcctgaactgCgttaataagttctggacatt	11	12	7	11	1	2	1	1	1	1	0	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:8902618C>T	ENST00000357529.3	+	4	1598	c.336C>T	c.(334-336)tgC>tgT	p.C112C	RIMKLB_ENST00000535829.1_Silent_p.C112C|RIMKLB_ENST00000299673.5_3'UTR|RIMKLB_ENST00000538135.1_Silent_p.C112C	NM_020734.2	NP_065785.2	Q9ULI2	RIMKB_HUMAN	ribosomal modification protein rimK-like family member B	112					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding	p.C112C(1)		central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCCTGAACTGCGTTAATAAGT	0.473													T	8902618	C	T	8902618	2	4	364	1	0	0	0	0	0	0	0	1	13457	776	27	1		1	RIMKLB	12	8902618	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36023	8902618	124949277	9349	32851											
A2ML1	144568	broad.mit.edu	37	chr12	9013818	9013818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggccctgttggcttacAttttctccctggctggggaa	6	12	11	12	0	1	0	0	0	1	0	2	1	1	1	2	5	1	3	2	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9013818A>G	ENST00000299698.7	+	28	3607	c.3427A>G	c.(3427-3429)Att>Gtt	p.I1143V	A2ML1_ENST00000539547.1_Missense_Mutation_p.I652V	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	987						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						GTTGGCTTACATTTTCTCCCT	0.478													G	9013818	A	G	9013818	3	3	364	1	0	0	0	0	1	0	0	0	5	217	8	3	3537	3	A2ML1	12	9013818	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111200	9013818	124838077	9350	32852											
PHC1	1911	broad.mit.edu	37	chr12	9087028	9087028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccagattctcacccAcatcattgaaggctttgtta	11	11	7	12	0	2	2	2	1	1	1	3	3	2	2	3	1	1	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9087028A>G	ENST00000433083.2	+	9	2217	c.2072A>G	c.(2071-2073)cAc>cGc	p.H691R	PHC1_ENST00000536844.1_Missense_Mutation_p.H342R|PHC1_ENST00000544916.1_Missense_Mutation_p.H736R|PHC1_ENST00000543824.1_Missense_Mutation_p.H736R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	736					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATTCTCACCCACATCATTGAA	0.542													G	9087028	A	G	9087028	3	3	364	1	0	0	0	0	1	0	0	0	11893	159	6	3	2241	3	PHC1	12	9087028	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	73210	9087028	124764867	9351	32853											
PHC1	1911	broad.mit.edu	37	chr12	9089802	9089802	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctgtagccatcagttccgGctgaagaggaaaaaaatgaa	16	7	11	7	1	1	3	1	2	0	1	2	4	2	4	2	2	2	4	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9089802G>A	ENST00000433083.2	+	12	2518	c.2373G>A	c.(2371-2373)cgG>cgA	p.R791R	PHC1_ENST00000536844.1_Silent_p.R442R|PHC1_ENST00000544916.1_Silent_p.R836R|PHC1_ENST00000543824.1_Silent_p.R836R			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	836					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						ATCAGTTCCGGCTGAAGAGGA	0.502													A	9089802	G	A	9089802	2	1	364	1	0	0	0	0	0	0	0	1	11893	1190	42	2		2	PHC1	12	9089802	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2774	9089802	124762093	9352	32854											
A2M	2	broad.mit.edu	37	chr12	9225448	9225448	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatatttggacagagcaTggagagccaccactgtgtcc	10	9	10	12	0	0	2	0	0	0	2	2	4	2	3	4	2	2	1	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9225448T>C	ENST00000318602.7	-	30	4083	c.3776A>G	c.(3775-3777)cAt>cGt	p.H1259R		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	1259					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGACAGAGCATGGAGAGCCAC	0.478													C	9225448	T	C	9225448	3	2	364	1	0	0	0	0	1	0	0	0	4	1464	51	3	676	3	A2M	12	9225448	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135646	9225448	124626447	9353	32855											
PZP	5858	broad.mit.edu	37	chr12	9307414	9307414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccttgggtctctgagggCgctcccaatggacgaggttg	5	10	16	10	2	1	1	0	1	1	0	3	3	2	2	2	4	1	2	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:9307414C>T	ENST00000261336.2	-	29	3600	c.3572G>A	c.(3571-3573)cGc>cAc	p.R1191H	PZP_ENST00000381997.2_Missense_Mutation_p.R977H	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						TCTCTGAGGGCGCTCCCAATG	0.468													T	9307414	C	T	9307414	3	4	364	1	0	0	0	0	1	0	0	0	12957	768	27	1	908	1	PZP	12	9307414	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81966	9307414	124544481	9354	32856											
CLEC12A	160364	broad.mit.edu	37	chr12	10131982	10131982	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaaaatgaacaaactacaaAacatcagtgaagagctccag	22	5	6	8	0	1	3	1	2	0	1	2	3	2	3	1	0	5	1	1	0	9	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10131982A>C	ENST00000304361.4	+	3	420	c.238A>C	c.(238-240)Aac>Cac	p.N80H	CLEC12A_ENST00000350667.4_Missense_Mutation_p.N47H|CLEC12A_ENST00000355690.4_Missense_Mutation_p.N90H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.N80H	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	80						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CAAACTACAAAACATCAGTGA	0.333													C	10131982	A	C	10131982	3	2	364	1	0	0	0	0	1	0	0	0	3528	14	1	5	248	5	CLEC12A	12	10131982	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	824568	10131982	123719913	9355	32857											
CLEC12A	160364	broad.mit.edu	37	chr12	10133229	10133229	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggatttggcataaggacaGctgttatttcctaagtgatg	11	14	11	5	0	0	1	0	1	0	0	1	3	1	3	1	3	1	3	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10133229G>T	ENST00000304361.4	+	4	610	c.428G>T	c.(427-429)aGc>aTc	p.S143I	CLEC12A_ENST00000350667.4_Missense_Mutation_p.S110I|CLEC12A_ENST00000355690.4_Missense_Mutation_p.S153I|CLEC12A_ENST00000434319.2_Missense_Mutation_p.S143I	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	143	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATAAGGACAGCTGTTATTTC	0.393													T	10133229	G	T	10133229	3	4	364	1	0	0	0	0	1	0	0	0	3528	971	34	4	442	4	CLEC12A	12	10133229	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1247	10133229	123718666	9356	32858											
CLEC1B	51266	broad.mit.edu	37	chr12	10151675	10151675	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagttttaatatttaaggTgatgtatccatcttcatcct	10	17	6	8	1	2	1	1	1	1	0	4	2	4	1	3	1	0	2	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10151675T>G	ENST00000428126.2	-	3	294	c.25A>C	c.(25-27)Acc>Ccc	p.T9P	CLEC1B_ENST00000298527.6_Missense_Mutation_p.T9P|CLEC1B_ENST00000348658.4_Missense_Mutation_p.T9P			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	9					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						ATATTTAAGGTGATGTATCCA	0.363													G	10151675	T	G	10151675	3	3	364	1	0	0	0	0	1	0	0	0	3537	1696	59	5	688	5	CLEC1B	12	10151675	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18446	10151675	123700220	9357	32859											
CLEC12B	387837	broad.mit.edu	37	chr12	10168241	10168241	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcacagccattactcatgTtttcgttcttttggctggga	6	17	9	9	1	3	0	2	0	1	0	4	1	3	1	1	2	2	3	1	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10168241T>C	ENST00000396502.1	+	5	723	c.595T>C	c.(595-597)Ttt>Ctt	p.F199L	RP11-133L14.5_ENST00000544225.1_RNA|CLEC12B_ENST00000338896.5_Missense_Mutation_p.F199L	NM_205852.2	NP_995324.2	Q2HXU8	CL12B_HUMAN	C-type lectin domain family 12, member B	199	C-type lectin.					integral to membrane|plasma membrane	receptor activity|sugar binding			central_nervous_system(2)|large_intestine(2)|lung(5)	9						ATTACTCATGTTTTCGTTCTT	0.428													C	10168241	T	C	10168241	3	2	364	1	0	0	0	0	1	0	0	0	3529	1725	60	3	613	3	CLEC12B	12	10168241	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16566	10168241	123683654	9358	32860											
CLEC1A	51267	broad.mit.edu	37	chr12	10225962	10225962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagggcgcaaaagccctgTccaataagagtagaaaaact	16	6	10	9	1	1	2	1	0	0	2	2	2	2	2	2	1	2	2	2	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10225962T>C	ENST00000315330.4	-	5	654	c.592A>G	c.(592-594)Aca>Gca	p.T198A	CLEC1A_ENST00000457018.2_Missense_Mutation_p.T165A|CLEC1A_ENST00000420265.2_Missense_Mutation_p.T106A	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	198	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						AAAAGCCCTGTCCAATAAGAG	0.463													C	10225962	T	C	10225962	3	2	364	1	0	0	0	0	1	0	0	0	3536	1667	58	3	258	3	CLEC1A	12	10225962	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57721	10225962	123625933	9359	32861											
CLEC1A	51267	broad.mit.edu	37	chr12	10228126	10228126	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcttgtttgtttatctTcagcatggtagagttttcac	6	20	8	7	0	5	1	2	0	3	1	5	1	5	1	0	1	1	5	0	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10228126T>A	ENST00000315330.4	-	4	582	c.520A>T	c.(520-522)Aag>Tag	p.K174*	CLEC1A_ENST00000457018.2_Nonsense_Mutation_p.K141*|CLEC1A_ENST00000420265.2_Nonsense_Mutation_p.K82*	NM_016511.2	NP_057595.2	Q8NC01	CLC1A_HUMAN	C-type lectin domain family 1, member A	174	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane|intracellular	sugar binding|transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	23						TTGTTTATCTTCAGCATGGTA	0.378													A	10228126	T	A	10228126	4	1	364	1	0	0	0	0	0	1	0	0	3536	1792	62	5	334	5	CLEC1A	12	10228126	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2164	10228126	123623769	9360	32862											
KLRC1	3821	broad.mit.edu	37	chr12	10603615	10603615	+	Frame_Shift_Del	DEL	T	T	-																															ccttgaaaatcctgagaagcTttttgaaggtttaattccgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10603615delT	ENST00000544822.1	-	3	528	c.141delA	c.(139-141)aaafs	p.K47fs	KLRC1_ENST00000536188.1_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000359151.3_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000347831.5_Frame_Shift_Del_p.K47fs|KLRC1_ENST00000408006.3_Frame_Shift_Del_p.K47fs	NM_213658.2	NP_998823	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1	47					cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CCTGAGAAGCTTTTTGAAGGT	0.393													-	10603615	T	-	10603615	7	5	364	1	0	1	0	1	0	0	0	0	8473	1606	56	0	584	0	KLRC1	12	10603615	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	375489	10603615	123248280	9361	32863											
STYK1	55359	broad.mit.edu	37	chr12	10772820	10772820	+	Missense_Mutation	SNP	A	A	C																															atacagttcaggtaccaccaActctggtacttgtaacacag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772820A>C	ENST00000075503.3	-	11	1712	c.1192T>G	c.(1192-1194)Ttg>Gtg	p.L398V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	398						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						GGTACCACCAACTCTGGTACT	0.532										HNSCC(73;0.22)			C	10772820	A	C	10772820	3	2	364	1	0	0	0	0	1	0	0	0	15455	40	2	5	80	5	STYK1	12	10772820	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	169205	10772820	123079075	9362	32864	86	2									
STYK1	55359	broad.mit.edu	37	chr12	10772829	10772829	+	Missense_Mutation	SNP	C	C	A																															aggtaccaccaactctggtaCttgtaacacagcctcgtcat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10772829C>A	ENST00000075503.3	-	11	1703	c.1183G>T	c.(1183-1185)Gta>Tta	p.V395L		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	395			V -> I (in a glioblastoma multiforme sample; somatic mutation).			integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity	p.V395I(1)		breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						AACTCTGGTACTTGTAACACA	0.552										HNSCC(73;0.22)			A	10772829	C	A	10772829	3	1	364	1	0	0	0	0	1	0	0	0	15455	565	20	4	89	4	STYK1	12	10772829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	10772829	123079066	9363	32865	86	2									
TAS2R9	50835	broad.mit.edu	37	chr12	10961845	10961845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattagaatgaatgaatggCttgatgggaaaatgacagtt	16	12	11	2	0	0	5	0	4	0	1	0	6	0	6	0	2	0	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10961845C>T	ENST00000240691.2	-	1	922	c.830G>A	c.(829-831)aGc>aAc	p.S277N		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	277					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAATGAATGGCTTGATGGGAA	0.373													T	10961845	C	T	10961845	3	4	364	1	0	0	0	0	1	0	0	0	15685	797	28	2	112	2	TAS2R9	12	10961845	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189016	10961845	122890050	9364	32866											
TAS2R9	50835	broad.mit.edu	37	chr12	10962216	10962216	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgactttgaaaaggtgataCcacatatcatcattctttgg	12	14	7	8	0	3	3	2	3	1	0	3	3	3	3	1	2	1	0	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962216C>T	ENST00000240691.2	-	1	551	c.459G>A	c.(457-459)tgG>tgA	p.W153*		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	153					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AAAGGTGATACCACATATCAT	0.378													T	10962216	C	T	10962216	4	4	364	1	0	0	0	0	0	1	0	0	15685	508	18	2	483	2	TAS2R9	12	10962216	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371	10962216	122889679	9365	32867											
TAS2R9	50835	broad.mit.edu	37	chr12	10962280	10962280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaggaccccagaagaatcGcaagcatgaccttgttgatc	14	7	10	10	1	0	4	0	2	0	2	2	6	0	5	3	1	1	3	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10962280G>A	ENST00000240691.2	-	1	487	c.395C>T	c.(394-396)gCg>gTg	p.A132V		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	132					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CAGAAGAATCGCAAGCATGAC	0.358													A	10962280	G	A	10962280	3	1	364	1	0	0	0	0	1	0	0	0	15685	1087	38	1	547	1	TAS2R9	12	10962280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64	10962280	122889615	9366	32868											
TAS2R10	50839	broad.mit.edu	37	chr12	10978281	10978282	+	Frame_Shift_Ins	INS	-	-	A																															gtctccaaagggaaatgattINSaaaaaaatacatgtaattag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978281_10978282insA	ENST00000240619.2	-	1	675_676	c.587_588insT	c.(586-588)ttafs	p.L196fs		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	196					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						GGGAAATGATTAAAAAAATACA	0.347													A	10978282	-	A	10978281	7	5	364	1	0	1	1	0	0	0	0	0	15663	1751	61	0	339	0	TAS2R10	12	10978281	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	16001	10978281	122873614	9367	32869	87	2									
TAS2R10	50839	broad.mit.edu	37	chr12	10978290	10978290	+	Silent	SNP	A	A	G																															agggaaatgattaaaaaaatAcatgtaattagggatagtgt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978290A>G	ENST00000240619.2	-	1	667	c.579T>C	c.(577-579)tgT>tgC	p.C193C		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	193					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTAAAAAAATACATGTAATTA	0.363													G	10978290	A	G	10978290	2	3	364	1	0	0	0	0	0	0	0	1	15663	389	14	3		3	TAS2R10	12	10978290	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9	10978290	122873605	9368	32870	87	2									
TAS2R10	50839	broad.mit.edu	37	chr12	10978450	10978450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtatgcaaaattaagtaacGatgaaataagtaagaatact	20	11	7	3	1	0	2	0	1	0	1	0	3	0	2	0	0	3	4	0	0	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:10978450G>A	ENST00000240619.2	-	1	507	c.419C>T	c.(418-420)tCg>tTg	p.S140L		NM_023921.1	NP_076410.1	Q9NYW0	T2R10_HUMAN	taste receptor, type 2, member 10	140					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						ATTAAGTAACGATGAAATAAG	0.308													A	10978450	G	A	10978450	3	1	364	1	0	0	0	0	1	0	0	0	15663	1059	37	1	508	1	TAS2R10	12	10978450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160	10978450	122873445	9369	32871											
TAS2R13	50838	broad.mit.edu	37	chr12	11061323	11061323	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagagatgaaggccacaGtaaatggtgttagactgaac	17	7	12	5	0	0	4	0	2	0	2	0	6	0	4	1	2	1	2	1	2	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11061323G>T	ENST00000390677.2	-	1	838	c.575C>A	c.(574-576)aCt>aAt	p.T192N	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	192					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						GAAGGCCACAGTAAATGGTGT	0.388													T	11061323	G	T	11061323	3	4	364	1	0	0	0	0	1	0	0	0	15664	1029	36	4	340	4	TAS2R13	12	11061323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82873	11061323	122790572	9370	32872											
TAS2R19	259294	broad.mit.edu	37	chr12	11174505	11174505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaagcttttatatggacCttggtgctgggatcttgaga	9	14	12	6	0	1	1	0	1	1	1	1	4	1	3	1	3	3	3	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174505C>A	ENST00000390673.2	-	1	714	c.666G>T	c.(664-666)aaG>aaT	p.K222N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	222					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTATATGGACCTTGGTGCTGG	0.403													A	11174505	C	A	11174505	3	1	364	1	0	0	0	0	1	0	0	0	15667	680	24	4	236	4	TAS2R19	12	11174505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113182	11174505	122677390	9371	32873											
TAS2R19	259294	broad.mit.edu	37	chr12	11174713	11174713	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatattcttttgtccacActctctcatccatggttatc	7	18	3	13	0	4	0	2	0	2	0	8	0	6	0	2	1	0	1	2	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11174713A>C	ENST00000390673.2	-	1	506	c.458T>G	c.(457-459)gTg>gGg	p.V153G	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176888.1	NP_795369.1	P59542	T2R19_HUMAN	taste receptor, type 2, member 19	153					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						TTTTGTCCACACTCTCTCATC	0.388													C	11174713	A	C	11174713	3	2	364	1	0	0	0	0	1	0	0	0	15667	159	6	5	444	5	TAS2R19	12	11174713	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	208	11174713	122677182	9372	32874											
TAS2R46	259292	broad.mit.edu	37	chr12	11214399	11214399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcactcctcagtttgatCttccaagtcatgtttccttc	7	17	5	12	0	3	1	2	1	1	0	7	1	6	1	3	0	1	3	3	0	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11214399C>A	ENST00000533467.1	-	1	494	c.495G>T	c.(493-495)aaG>aaT	p.K165N	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176887.2	NP_795368.2	P59540	T2R46_HUMAN	taste receptor, type 2, member 46	165					sensory perception of taste	cilium membrane|integral to membrane	G-protein coupled receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(49;0.0344)	BRCA - Breast invasive adenocarcinoma(232;0.196)		TCAGTTTGATCTTCCAAGTCA	0.363													A	11214399	C	A	11214399	3	1	364	1	0	0	0	0	1	0	0	0	15679	912	32	4	438	4	TAS2R46	12	11214399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39686	11214399	122637496	9373	32875											
TAS2R30	259293	broad.mit.edu	37	chr12	11286804	11286804	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaataacaaatataaccaCtattagaatggaaaaaatga	22	9	4	6	0	0	2	0	1	0	1	1	3	1	3	2	1	2	0	2	1	11	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11286804C>A	ENST00000539585.1	-	1	439	c.40G>T	c.(40-42)Gtg>Ttg	p.V14L	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_001097643.1	NP_001091112.1			taste receptor, type 2, member 30											autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	13						AATATAACCACTATTAGAATG	0.328													A	11286804	C	A	11286804	3	1	364	1	0	0	0	0	1	0	0	0	15670	565	20	4	923	4	TAS2R30	12	11286804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72405	11286804	122565091	9374	32876											
PRB4	5545	broad.mit.edu	37	chr12	11463274	11463274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttctgttttaccttcaCttgaactctcagctgagctc	6	15	5	15	0	3	2	2	2	2	0	5	2	3	2	3	0	4	3	3	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:11463274C>A	ENST00000279575.1	-	1	92	c.59G>T	c.(58-60)aGt>aTt	p.S20I	PRB4_ENST00000445719.2_Missense_Mutation_p.S20I|PRB4_ENST00000535904.1_Missense_Mutation_p.S20I	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	20						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TTTACCTTCACTTGAACTCTC	0.527										HNSCC(22;0.051)			A	11463274	C	A	11463274	3	1	364	1	0	0	0	0	1	0	0	0	12531	565	20	4	696	4	PRB4	12	11463274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176470	11463274	122388621	9375	32877											
ETV6	2120	broad.mit.edu	37	chr12	12037475	12037475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaatccaaaatattccGgatagtggatcccaacggac	16	7	8	10	2	0	1	0	0	0	1	3	4	3	4	3	3	1	0	3	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12037475G>A	ENST00000396373.4	+	6	1380	c.1106G>A	c.(1105-1107)cGg>cAg	p.R369Q		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	369						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R369L(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				AAAATATTCCGGATAGTGGAT	0.458			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								A	12037475	G	A	12037475	3	1	364	1	0	0	0	0	1	0	0	0	5324	1116	39	1	1128	1	ETV6	12	12037475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	574201	12037475	121814420	9376	32878											
ETV6	2120	broad.mit.edu	37	chr12	12038938	12038938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaacattatcaggaaggagCcaggacaaaggcttttgttc	14	10	10	7	0	1	0	1	0	0	0	2	3	1	3	1	4	2	2	1	4	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12038938C>T	ENST00000396373.4	+	7	1505	c.1231C>T	c.(1231-1233)Cca>Tca	p.P411S		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	411						cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CAGGAAGGAGCCAGGACAAAG	0.448			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								T	12038938	C	T	12038938	3	4	364	1	0	0	0	0	1	0	0	0	5324	739	26	2	1257	2	ETV6	12	12038938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1463	12038938	121812957	9377	32879											
LRP6	4040	broad.mit.edu	37	chr12	12288148	12288148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtagaaccaggtgcaTggggcaagaacaccttgtag	13	8	13	7	0	0	3	0	1	0	2	0	3	0	3	2	3	3	4	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12288148T>C	ENST00000261349.4	-	17	3770	c.3694A>G	c.(3694-3696)Atg>Gtg	p.M1232V	LRP6_ENST00000543091.1_Missense_Mutation_p.M1232V|LRP6_ENST00000540415.1_5'UTR|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1232	EGF-like 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ACCAGGTGCATGGGGCAAGAA	0.423													C	12288148	T	C	12288148	3	2	364	1	0	0	0	0	1	0	0	0	9032	1464	51	3	1175	3	LRP6	12	12288148	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	249210	12288148	121563747	9378	32880											
LRP6	4040	broad.mit.edu	37	chr12	12291271	12291271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacttactgtattcttgaaGgttcagctcctttactgcat	9	16	6	10	0	2	1	1	1	1	0	3	1	3	1	1	1	4	4	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12291271G>T	ENST00000261349.4	-	16	3671	c.3595C>A	c.(3595-3597)Ctt>Att	p.L1199I	LRP6_ENST00000543091.1_Missense_Mutation_p.L1199I|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1199	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TATTCTTGAAGGTTCAGCTCC	0.353													T	12291271	G	T	12291271	3	4	364	1	0	0	0	0	1	0	0	0	9032	1000	35	4	1278	4	LRP6	12	12291271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3123	12291271	121560624	9379	32881											
LRP6	4040	broad.mit.edu	37	chr12	12312848	12312848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacgttcacttccatccattGcagctctgtctatcttaggt	7	16	6	12	1	4	0	1	0	3	0	6	0	6	0	2	1	3	3	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12312848G>A	ENST00000261349.4	-	11	2406	c.2330C>T	c.(2329-2331)gCa>gTa	p.A777V	LRP6_ENST00000543091.1_Missense_Mutation_p.A777V	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	777	Beta-propeller 3.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCCATCCATTGCAGCTCTGTC	0.368													A	12312848	G	A	12312848	3	1	364	1	0	0	0	0	1	0	0	0	9032	1319	46	2	2563	2	LRP6	12	12312848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21577	12312848	121539047	9380	32882											
LRP6	4040	broad.mit.edu	37	chr12	12397304	12397304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaatccgattagtttcaGaatctgtccagtacaatttt	11	16	5	9	1	3	1	2	0	1	1	5	2	5	1	2	0	1	2	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12397304G>T	ENST00000261349.4	-	2	417	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	LRP6_ENST00000543091.1_Missense_Mutation_p.S114Y	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	114	Beta-propeller 1.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				ATTAGTTTCAGAATCTGTCCA	0.393													T	12397304	G	T	12397304	3	4	364	1	0	0	0	0	1	0	0	0	9032	942	33	4	4588	4	LRP6	12	12397304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84456	12397304	121454591	9381	32883											
DUSP16	80824	broad.mit.edu	37	chr12	12630736	12630736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctctgaggtagcagaGtcggcacagggtggactgag	8	7	17	9	1	1	3	0	2	1	1	2	4	1	4	1	4	2	4	1	4	1	1	rs144222400	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630736G>T	ENST00000228862.2	-	7	1660	c.1029C>A	c.(1027-1029)gaC>gaA	p.D343E	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	343					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		AGGTAGCAGAGTCGGCACAGG	0.632													T	12630736	G	T	12630736	3	4	364	1	0	0	0	0	1	0	0	0	4855	1020	36	4	972	4	DUSP16	12	12630736	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	233432	12630736	121221159	9382	32884											
DUSP16	80824	broad.mit.edu	37	chr12	12630810	12630810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagggacaggttcatttgGcttctccaggtgcagcagct	8	10	13	10	0	2	0	1	0	1	0	3	1	2	1	1	4	4	6	1	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12630810G>A	ENST00000228862.2	-	7	1586	c.955C>T	c.(955-957)Cca>Tca	p.P319S	DUSP16_ENST00000298573.4_3'UTR	NM_030640.2	NP_085143.1	Q9BY84	DUS16_HUMAN	dual specificity phosphatase 16	319					inactivation of MAPK activity|MAPK export from nucleus|MAPK phosphatase export from nucleus, leptomycin B sensitive	cytoplasmic membrane-bounded vesicle|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(7)|kidney(2)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(3)	26		Prostate(47;0.0687)		BRCA - Breast invasive adenocarcinoma(232;0.0203)		GGTTCATTTGGCTTCTCCAGG	0.542													A	12630810	G	A	12630810	3	1	364	1	0	0	0	0	1	0	0	0	4855	1203	42	2	1046	2	DUSP16	12	12630810	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74	12630810	121221085	9383	32885											
DDX47	51202	broad.mit.edu	37	chr12	12976874	12976874	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatattctgcagcacctgtaAtaatacccagagaacagctt	14	10	7	10	0	1	1	0	0	1	1	1	3	1	1	2	0	5	4	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:12976874A>C	ENST00000358007.3	+	8	843	c.821A>C	c.(820-822)aAt>aCt	p.N274T	DDX47_ENST00000352940.4_Intron	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	274	Helicase C-terminal.					nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		AGCACCTGTAATAATACCCAG	0.403													C	12976874	A	C	12976874	3	2	364	1	0	0	0	0	1	0	0	0	4399	101	4	5	851	5	DDX47	12	12976874	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	346064	12976874	120875021	9384	32886											
GSG1	83445	broad.mit.edu	37	chr12	13238070	13238070	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaggcagttcgggttttccTtgaagctcttactatgcttg	6	16	11	8	1	1	1	0	1	1	0	3	1	2	1	1	2	3	6	1	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13238070T>G	ENST00000337630.6	-	6	813	c.746A>C	c.(745-747)aAg>aCg	p.K249T	GSG1_ENST00000537302.1_Missense_Mutation_p.K221T|GSG1_ENST00000351606.6_3'UTR|GSG1_ENST00000432710.2_Missense_Mutation_p.K262T|GSG1_ENST00000396302.3_3'UTR|GSG1_ENST00000324458.8_Missense_Mutation_p.K285T|GSG1_ENST00000457134.2_Missense_Mutation_p.K198T|GSG1_ENST00000396310.2_Missense_Mutation_p.K218T	NM_153823.3	NP_722545.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	272						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		CGGGTTTTCCTTGAAGCTCTT	0.557													G	13238070	T	G	13238070	3	3	364	1	0	0	0	0	1	0	0	0	6875	1609	56	5	238	5	GSG1	12	13238070	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	261196	13238070	120613825	9385	32887											
GSG1	83445	broad.mit.edu	37	chr12	13241674	13241674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatcagacacatacttGccacaaagccccaagggagg	13	7	8	13	0	1	1	1	0	0	1	2	2	2	2	4	2	3	0	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13241674G>A	ENST00000396302.3	-	3	693	c.495C>T	c.(493-495)ggC>ggT	p.G165G	GSG1_ENST00000537302.1_Intron|GSG1_ENST00000351606.6_Silent_p.G201G|GSG1_ENST00000432710.2_Intron|GSG1_ENST00000324458.8_Intron|GSG1_ENST00000457134.2_Intron|GSG1_ENST00000396310.2_Intron|GSG1_ENST00000337630.6_Intron	NM_031289.3	NP_112579.2	Q2KHT4	GSG1_HUMAN	germ cell associated 1	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(1)	10		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.15)		ACACATACTTGCCACAAAGCC	0.532													A	13241674	G	A	13241674	2	1	364	1	0	0	0	0	0	0	0	1	6875	1306	46	2		2	GSG1	12	13241674	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3604	13241674	120610221	9386	32888											
EMP1	2012	broad.mit.edu	37	chr12	13366719	13366719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatggagaagggaaacCggttcttcctctcaggggcc	9	8	12	12	1	3	1	2	0	2	1	5	3	4	2	4	5	1	1	4	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:13366719C>T	ENST00000256951.5	+	4	479	c.280C>T	c.(280-282)Cgg>Tgg	p.R94W	EMP1_ENST00000431267.2_Missense_Mutation_p.R27W|EMP1_ENST00000537612.1_Intron|EMP1_ENST00000544053.1_Missense_Mutation_p.R27W|EMP1_ENST00000396301.3_Missense_Mutation_p.R94W|EMP1_ENST00000542289.1_Intron	NM_001423.2	NP_001414.1	P54849	EMP1_HUMAN	epithelial membrane protein 1	94					cell growth|cell proliferation|epidermis development	integral to membrane|membrane fraction							Prostate(47;0.194)		BRCA - Breast invasive adenocarcinoma(232;0.153)		GAAGGGAAACCGGTTCTTCCT	0.498													T	13366719	C	T	13366719	3	4	364	1	0	0	0	0	1	0	0	0	5142	643	23	1	290	1	EMP1	12	13366719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125045	13366719	120485176	9387	32889											
PLBD1	79887	broad.mit.edu	37	chr12	14706205	14706205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtttgagagccatagccaGctctgatctccaggatgccc	8	9	12	12	0	2	2	0	2	2	1	3	4	2	3	4	2	4	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14706205G>A	ENST00000240617.5	-	2	909	c.257C>T	c.(256-258)gCt>gTt	p.A86V		NM_024829.5	NP_079105.4	Q6P4A8	PLBL1_HUMAN	phospholipase B domain containing 1	86					lipid catabolic process	extracellular region	hydrolase activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16						GCCATAGCCAGCTCTGATCTC	0.478													A	14706205	G	A	14706205	3	1	364	1	0	0	0	0	1	0	0	0	12102	971	34	2	1444	2	PLBD1	12	14706205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1339486	14706205	119145690	9388	32890											
GUCY2C	2984	broad.mit.edu	37	chr12	14775117	14775117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcctttctccttcagaGactttaccactagcctagat	11	12	5	13	0	2	2	1	0	1	2	3	3	2	2	4	0	3	0	4	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14775117G>T	ENST00000261170.3	-	22	2559	c.2423C>A	c.(2422-2424)tCt>tAt	p.S808Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	808					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CTCCTTCAGAGACTTTACCAC	0.388													T	14775117	G	T	14775117	3	4	364	1	0	0	0	0	1	0	0	0	6951	942	33	4	822	4	GUCY2C	12	14775117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68912	14775117	119076778	9389	32891											
GUCY2C	2984	broad.mit.edu	37	chr12	14805895	14805895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggtcacctttttgtcGtatttgcactgtcgtagtct	6	16	11	8	2	2	1	1	0	1	1	4	2	2	1	1	2	1	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14805895G>A	ENST00000261170.3	-	13	1660	c.1524C>T	c.(1522-1524)taC>taT	p.Y508Y		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	508	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						CCTTTTTGTCGTATTTGCACT	0.478													A	14805895	G	A	14805895	2	1	364	1	0	0	0	0	0	0	0	1	6951	1140	40	1		1	GUCY2C	12	14805895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30778	14805895	119046000	9390	32892											
GUCY2C	2984	broad.mit.edu	37	chr12	14840925	14840925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaggccttcacaggtgctaCtccggcagtcgcctgagtta	7	9	12	13	3	1	1	1	1	0	0	3	2	2	1	3	3	2	3	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14840925C>T	ENST00000261170.3	-	2	426	c.290G>A	c.(289-291)aGt>aAt	p.S97N	RP11-174G6.1_ENST00000501178.2_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	97					intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						ACAGGTGCTACTCCGGCAGTC	0.483													T	14840925	C	T	14840925	3	4	364	1	0	0	0	0	1	0	0	0	6951	565	20	2	3035	2	GUCY2C	12	14840925	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35030	14840925	119010970	9391	32893											
WBP11	51729	broad.mit.edu	37	chr12	14952649	14952649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcgaaccatcatgCgctgttttttgttcttagaa	8	15	8	10	2	2	1	1	0	1	1	3	2	2	1	1	0	4	5	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14952649C>T	ENST00000261167.2	-	4	343	c.110G>A	c.(109-111)cGc>cAc	p.R37H		NM_016312.2	NP_057396.1	Q9Y2W2	WBP11_HUMAN	WW domain binding protein 11	37	Required for nuclear import (By similarity).				mRNA processing|RNA splicing|rRNA processing	cytoplasm	single-stranded DNA binding|WW domain binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)	30						AACCATCATGCGCTGTTTTTT	0.368													T	14952649	C	T	14952649	3	4	364	1	0	0	0	0	1	0	0	0	17360	768	27	1	1851	1	WBP11	12	14952649	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	111724	14952649	118899246	9392	32894											
C12orf60	144608	broad.mit.edu	37	chr12	14976519	14976519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaacaaattgtcaaggCtatgggaccaatcttagaga	14	10	11	6	0	2	1	1	0	1	1	2	4	2	3	1	3	1	2	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:14976519C>T	ENST00000330828.2	+	2	854	c.650C>T	c.(649-651)gCt>gTt	p.A217V	C12orf60_ENST00000527783.1_Intron	NM_175874.3	NP_787070.2	Q5U649	CL060_HUMAN	chromosome 12 open reading frame 60	217										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	9						ATTGTCAAGGCTATGGGACCA	0.383													T	14976519	C	T	14976519	3	4	364	1	0	0	0	0	1	0	0	0	1716	797	28	2	652	2	C12orf60	12	14976519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23870	14976519	118875376	9393	32895											
MGP	4256	broad.mit.edu	37	chr12	15035207	15035207	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacaggcttagagcgttCtcggatcctagaaagtggaa	11	9	14	7	2	1	2	0	0	1	2	3	5	2	5	1	4	1	2	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15035207C>A	ENST00000539261.1	-	4	312	c.178G>T	c.(178-180)Gaa>Taa	p.E60*	MGP_ENST00000228938.5_Nonsense_Mutation_p.E85*|C12orf60_ENST00000527783.1_Intron	NM_000900.3	NP_000891.2	P08493	MGP_HUMAN	matrix Gla protein	60	Gla.				cartilage condensation|cell differentiation|ossification|regulation of bone mineralization	proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent|structural constituent of bone			large_intestine(1)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	7						TTAGAGCGTTCTCGGATCCTA	0.418													A	15035207	C	A	15035207	4	1	364	1	0	0	0	0	0	1	0	0	9633	922	32	4	137	4	MGP	12	15035207	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58688	15035207	118816688	9394	32896											
RERG	85004	broad.mit.edu	37	chr12	15262092	15262092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaatggcttgcttgacatgCgtggtggagctgcgtcgcct	5	13	14	9	3	0	1	0	1	0	0	1	2	0	2	1	3	4	3	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15262092C>T	ENST00000256953.2	-	5	888	c.552G>A	c.(550-552)acG>acA	p.T184T	RERG_ENST00000538313.1_Silent_p.T184T|RERG_ENST00000536465.1_Silent_p.T184T|RERG_ENST00000546331.1_Silent_p.T165T	NM_032918.2	NP_116307.1	Q96A58	RERG_HUMAN	RAS-like, estrogen-regulated, growth inhibitor	184					negative regulation of cell growth|negative regulation of cell proliferation|response to hormone stimulus|small GTPase mediated signal transduction	cytosol|membrane|nucleus	estrogen receptor binding|GDP binding|GTP binding|GTPase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16						GCTTGACATGCGTGGTGGAGC	0.517													T	15262092	C	T	15262092	2	4	364	1	0	0	0	0	0	0	0	1	13320	755	27	1		1	RERG	12	15262092	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	226885	15262092	118589803	9395	32897											
PTPRO	5800	broad.mit.edu	37	chr12	15654589	15654589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatatttccgttcgtatcGtaaacttgaacaaaaacaac	18	11	4	8	3	0	1	0	1	0	0	3	1	1	1	1	0	4	3	1	0	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15654589G>A	ENST00000281171.4	+	5	1027	c.697G>A	c.(697-699)Gta>Ata	p.V233I	PTPRO_ENST00000543886.1_Missense_Mutation_p.V233I|PTPRO_ENST00000348962.2_Missense_Mutation_p.V233I	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	233						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.V233I(1)		NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CGTTCGTATCGTAAACTTGAA	0.338													A	15654589	G	A	15654589	3	1	364	1	0	0	0	0	1	0	0	0	12897	1145	40	1	715	1	PTPRO	12	15654589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	392497	15654589	118197306	9396	32898											
PTPRO	5800	broad.mit.edu	37	chr12	15668485	15668485	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctggtgcccagtaccaGgttgtaatatacctaaggaa	11	11	10	9	0	0	0	0	0	0	0	1	1	1	1	4	3	3	4	4	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15668485G>T	ENST00000281171.4	+	8	1848	c.1518G>T	c.(1516-1518)caG>caT	p.Q506H	PTPRO_ENST00000543886.1_Missense_Mutation_p.Q506H|PTPRO_ENST00000348962.2_Missense_Mutation_p.Q506H	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	506	Fibronectin type-III 5.					integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CCCAGTACCAGGTTGTAATAT	0.413													T	15668485	G	T	15668485	3	4	364	1	0	0	0	0	1	0	0	0	12897	991	35	4	1548	4	PTPRO	12	15668485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13896	15668485	118183410	9397	32899											
EPS8	2059	broad.mit.edu	37	chr12	15774360	15774360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaactcggagctgccactgCtatcctgaaagataaacagt	13	9	9	10	1	0	2	0	1	0	1	2	3	1	3	2	1	5	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:15774360C>T	ENST00000281172.5	-	21	2796	c.2360G>A	c.(2359-2361)aGc>aAc	p.S787N	EPS8_ENST00000540613.1_Missense_Mutation_p.S527N|EPS8_ENST00000542903.1_Missense_Mutation_p.S527N|EPS8_ENST00000543612.1_Missense_Mutation_p.S787N|EPS8_ENST00000543523.1_Missense_Mutation_p.S787N	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	787					cell proliferation|epidermal growth factor receptor signaling pathway		SH3/SH2 adaptor activity			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		GCTGCCACTGCTATCCTGAAA	0.418													T	15774360	C	T	15774360	3	4	364	1	0	0	0	0	1	0	0	0	5235	797	28	2	112	2	EPS8	12	15774360	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105875	15774360	118077535	9398	32900											
RERGL	79785	broad.mit.edu	37	chr12	18234205	18234205	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgggacgtctcttttCtttgagtttgaagtttatca	7	18	8	8	1	3	2	1	2	2	0	5	3	4	3	1	1	0	2	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18234205C>A	ENST00000229002.2	-	6	744	c.538G>T	c.(538-540)Gaa>Taa	p.E180*	RERGL_ENST00000538724.1_Nonsense_Mutation_p.E179*	NM_024730.2	NP_079006.1	Q9H628	RERGL_HUMAN	RERG/RAS-like	180	Small GTPase-like.				signal transduction	membrane	GTP binding|GTPase activity			endometrium(1)|large_intestine(5)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	17						CGTCTCTTTTCTTTGAGTTTG	0.393													A	18234205	C	A	18234205	4	1	364	1	0	0	0	0	0	1	0	0	13321	922	32	4	83	4	RERGL	12	18234205	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2459845	18234205	115617690	9399	32901											
PIK3C2G	5288	broad.mit.edu	37	chr12	18435201	18435201	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaattgatgaaaacacCttttttgtgcccactgcacc	12	12	7	10	0	0	3	0	3	0	0	0	3	0	3	3	0	3	1	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18435201C>A	ENST00000433979.1	+	2	302	c.186C>A	c.(184-186)acC>acA	p.T62T	PIK3C2G_ENST00000535651.1_Silent_p.T62T|PIK3C2G_ENST00000266497.5_Silent_p.T62T|PIK3C2G_ENST00000538779.1_Silent_p.T62T|RERGL_ENST00000541632.1_Intron	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	62					cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATGAAAACACCTTTTTTGTGC	0.408													A	18435201	C	A	18435201	2	1	364	1	0	0	0	0	0	0	0	1	11988	668	24	4		4	PIK3C2G	12	18435201	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200996	18435201	115416694	9400	32902											
PIK3C2G	5288	broad.mit.edu	37	chr12	18691180	18691180	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttcaagattttgtggaActttgctgtcgtgcttataa	9	18	8	6	1	1	1	1	0	0	1	2	2	1	2	0	1	3	2	0	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18691180A>G	ENST00000433979.1	+	24	3407	c.3291A>G	c.(3289-3291)gaA>gaG	p.E1097E	PIK3C2G_ENST00000266497.5_Silent_p.E1097E|PIK3C2G_ENST00000538779.1_Silent_p.E1138E	NM_004570.4	NP_004561.3	O75747	P3C2G_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 gamma	1097	PI3K/PI4K.				cell communication|phosphatidylinositol-mediated signaling	membrane|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			breast(5)|central_nervous_system(6)|endometrium(2)|kidney(4)|large_intestine(8)|lung(31)|ovary(2)|prostate(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	66		Hepatocellular(102;0.194)				ATTTTGTGGAACTTTGCTGTC	0.383													G	18691180	A	G	18691180	2	3	364	1	0	0	0	0	0	0	0	1	11988	40	2	3		3	PIK3C2G	12	18691180	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	255979	18691180	115160715	9401	32903											
PLCZ1	89869	broad.mit.edu	37	chr12	18837124	18837124	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattcatttcctgctattaAaccttgaccttcaacaacaa	15	13	2	11	0	2	1	2	1	0	0	3	1	3	1	3	0	4	1	3	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18837124A>C	ENST00000447925.2	-	14	1944	c.1675T>G	c.(1675-1677)Tta>Gta	p.L559V	PLCZ1_ENST00000539875.1_Missense_Mutation_p.L368V|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L343V|PLCZ1_ENST00000266505.7_Missense_Mutation_p.L561V|PLCZ1_ENST00000541695.1_3'UTR|PLCZ1_ENST00000534932.1_Missense_Mutation_p.L42V|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L366V	NM_033123.3	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	561	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CCTGCTATTAAACCTTGACCT	0.333													C	18837124	A	C	18837124	3	2	364	1	0	0	0	0	1	0	0	0	12121	11	1	5	153	5	PLCZ1	12	18837124	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	145944	18837124	115014771	9402	32904											
PLCZ1	89869	broad.mit.edu	37	chr12	18841024	18841025	+	Splice_Site	INS	-	-	T																															ggtatatcaggagctcaccaINSttttttttaattacacgagt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18841024_18841025insT	ENST00000447925.2	-	13	1852_1853	c.1583_1584insA	c.(1582-1584)aat>aaAt	p.N528fs	PLCZ1_ENST00000541695.1_Splice_Site_p.N393fs|PLCZ1_ENST00000534932.1_Splice_Site_p.N11fs|PLCZ1_ENST00000539875.1_Splice_Site_p.N337fs|PLCZ1_ENST00000538330.1_Splice_Site_p.N312fs|PLCZ1_ENST00000266505.7_Splice_Site_p.N530fs|PLCZ1_ENST00000435379.1_Splice_Site_p.N335fs	NM_033123.3	NP_149114.2	Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	530	C2.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					GGAGCTCACCATTTTTTTTAAT	0.292													T	18841025	-	T	18841024	8	5	364	1	0	1	1	0	0	0	1	0	12121	231	8	0	248	0	PLCZ1	12	18841024	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	3900	18841024	115010871	9403	32905											
CAPZA3	93661	broad.mit.edu	37	chr12	18891391	18891391	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaatattctgtaccactCtgcatcgatggaaatccagt	14	11	6	10	1	2	0	0	0	2	0	4	2	3	1	2	1	2	2	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891391C>A	ENST00000317658.3	+	1	347	c.189C>A	c.(187-189)ctC>ctA	p.L63L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	63					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CTGTACCACTCTGCATCGATG	0.433													A	18891391	C	A	18891391	2	1	364	1	0	0	0	0	0	0	0	1	2668	900	32	4		4	CAPZA3	12	18891391	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50367	18891391	114960504	9404	32906											
CAPZA3	93661	broad.mit.edu	37	chr12	18891730	18891730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaaatctaaatggattttCcaagttaacccatttctaac	14	14	5	8	0	2	0	0	0	2	0	3	2	3	2	2	2	2	1	2	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:18891730C>T	ENST00000317658.3	+	1	686	c.528C>T	c.(526-528)ttC>ttT	p.F176F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	176					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AATGGATTTTCCAAGTTAACC	0.388													T	18891730	C	T	18891730	2	4	364	1	0	0	0	0	0	0	0	1	2668	854	30	2		2	CAPZA3	12	18891730	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	339	18891730	114960165	9405	32907											
PDE3A	5139	broad.mit.edu	37	chr12	20803455	20803455	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatgtgtataaagttggCtgatatcaatggtccagcta	13	13	9	6	0	2	1	2	1	0	0	3	1	3	1	1	2	1	4	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:20803455C>A	ENST00000359062.3	+	14	2886	c.2846C>A	c.(2845-2847)gCt>gAt	p.A949D	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	949	Catalytic (By similarity).				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ATAAAGTTGGCTGATATCAAT	0.333													A	20803455	C	A	20803455	3	1	364	1	0	0	0	0	1	0	0	0	11713	797	28	4	2900	4	PDE3A	12	20803455	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1911725	20803455	113048440	9406	32908											
SLCO1B3	28234	broad.mit.edu	37	chr12	21015771	21015771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctaaaatgtacgtggataTtggatatgtagatctgagta	13	14	11	3	1	1	2	0	1	1	1	1	4	1	4	0	2	2	4	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21015771T>C	ENST00000381545.3	+	8	929	c.710T>C	c.(709-711)aTt>aCt	p.I237T	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.I237T|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.I237T|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.I237T	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	237					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TACGTGGATATTGGATATGTA	0.358													C	21015771	T	C	21015771	3	2	364	1	0	0	0	0	1	0	0	0	14818	1493	52	3	732	3	SLCO1B3	12	21015771	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	212316	21015771	112836124	9407	32909											
SLCO1B3	28234	broad.mit.edu	37	chr12	21030736	21030736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctttgaaaagcatccttaCcaatcccctgtatgttatat	11	15	5	10	0	1	1	0	1	1	0	3	1	3	1	4	0	2	3	4	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21030736C>T	ENST00000381545.3	+	10	1220	c.1001C>T	c.(1000-1002)aCc>aTc	p.T334I	SLCO1B3_ENST00000553473.1_Missense_Mutation_p.T334I|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.T334I|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Missense_Mutation_p.T334I	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	334					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					AGCATCCTTACCAATCCCCTG	0.259													T	21030736	C	T	21030736	3	4	364	1	0	0	0	0	1	0	0	0	14818	507	18	2	1031	2	SLCO1B3	12	21030736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14965	21030736	112821159	9408	32910											
SLCO1B3	28234	broad.mit.edu	37	chr12	21069117	21069117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggtgaacattttgtacCttctgctggaacagatagta	12	14	9	6	0	1	2	0	1	1	1	1	3	1	3	1	2	4	3	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21069117C>T	ENST00000381545.3	+	16	2264	c.2045C>T	c.(2044-2046)cCt>cTt	p.P682L	SLCO1B3_ENST00000553473.1_Intron|SLCO1B3_ENST00000261196.2_Missense_Mutation_p.P682L|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000381541.3_Intron|LST3_ENST00000540229.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	682					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CATTTTGTACCTTCTGCTGGA	0.328													T	21069117	C	T	21069117	3	4	364	1	0	0	0	0	1	0	0	0	14818	681	24	2	2099	2	SLCO1B3	12	21069117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38381	21069117	112782778	9409	32911											
SLCO1A2	6579	broad.mit.edu	37	chr12	21427475	21427475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttccccagtgtaaacatGtggaatccattaaagcgcca	14	9	8	10	1	0	0	0	0	0	0	2	1	2	1	4	1	2	2	4	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21427475G>A	ENST00000307378.6	-	15	2441	c.1721C>T	c.(1720-1722)aCa>aTa	p.T574I	SLCO1A2_ENST00000458504.1_Missense_Mutation_p.T442I|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.T574I|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.T442I	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	574					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						GTGTAAACATGTGGAATCCAT	0.358													A	21427475	G	A	21427475	3	1	364	1	0	0	0	0	1	0	0	0	14816	1377	48	2	299	2	SLCO1A2	12	21427475	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358358	21427475	112424420	9410	32912											
RECQL	5965	broad.mit.edu	37	chr12	21643136	21643136	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttttagtacataccatCtgaacataatgctggtaact	13	16	5	7	0	1	1	0	1	1	0	1	1	1	1	1	1	5	3	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21643136C>A	ENST00000444129.2	-	4	859	c.391G>T	c.(391-393)Gat>Tat	p.D131Y	RECQL_ENST00000421138.2_Missense_Mutation_p.D131Y	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	131	Helicase ATP-binding.				DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TACATACCATCTGAACATAAT	0.294								Other identified genes with known or suspected DNA repair function					A	21643136	C	A	21643136	3	1	364	1	0	0	0	0	1	0	0	0	13289	913	32	4	1606	4	RECQL	12	21643136	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215661	21643136	112208759	9411	32913											
RECQL	5965	broad.mit.edu	37	chr12	21644539	21644539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactgctttattttctttGtcaggactttttttttctga	7	22	5	7	0	3	1	1	1	2	0	3	2	3	2	0	1	2	1	0	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21644539G>A	ENST00000444129.2	-	3	596	c.128C>T	c.(127-129)aCa>aTa	p.T43I	RECQL_ENST00000421138.2_Missense_Mutation_p.T43I	NM_002907.3|NM_032941.2	NP_002898.2|NP_116559.1	P46063	RECQ1_HUMAN	RecQ protein-like (DNA helicase Q1-like)	43					DNA recombination|DNA repair|DNA replication	nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|DNA strand annealing activity|protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17						TATTTTCTTTGTCAGGACTTT	0.368								Other identified genes with known or suspected DNA repair function					A	21644539	G	A	21644539	3	1	364	1	0	0	0	0	1	0	0	0	13289	1377	48	2	1873	2	RECQL	12	21644539	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1403	21644539	112207356	9412	32914											
LDHB	3945	broad.mit.edu	37	chr12	21790067	21790067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caacatggattcaataagatCagccacacttaatccaatag	17	9	5	10	0	2	1	2	0	0	1	3	2	3	2	2	1	2	0	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21790067C>T	ENST00000396076.1	-	7	1107	c.775G>A	c.(775-777)Gat>Aat	p.D259N	LDHB_ENST00000350669.1_Missense_Mutation_p.D259N	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	259					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TCAATAAGATCAGCCACACTT	0.343													T	21790067	C	T	21790067	3	4	364	1	0	0	0	0	1	0	0	0	8760	826	29	2	237	2	LDHB	12	21790067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145528	21790067	112061828	9413	32915											
KCNJ8	3764	broad.mit.edu	37	chr12	21919215	21919215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggtgaataggaaccacCtccccttcaggtgtagttgt	9	12	11	9	0	1	1	1	1	0	0	2	2	2	2	4	3	1	3	4	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21919215C>A	ENST00000240662.2	-	3	1062	c.717G>T	c.(715-717)gaG>gaT	p.E239D	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	239						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	TAGGAACCACCTCCCCTTCAG	0.478													A	21919215	C	A	21919215	3	1	364	1	0	0	0	0	1	0	0	0	8114	680	24	4	561	4	KCNJ8	12	21919215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129148	21919215	111932680	9414	32916											
ABCC9	10060	broad.mit.edu	37	chr12	21998712	21998712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccatggcattttagtcCtgagcctcattacagtggac	8	15	8	10	0	1	1	1	1	0	0	3	2	3	2	3	2	2	1	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:21998712C>A	ENST00000261200.4	-	24	2920	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M	ABCC9_ENST00000345162.2_Missense_Mutation_p.R938M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Missense_Mutation_p.R974M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	974					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CATTTTAGTCCTGAGCCTCAT	0.443													A	21998712	C	A	21998712	3	1	364	1	0	0	0	0	1	0	0	0	59	681	24	4	1930	4	ABCC9	12	21998712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79497	21998712	111853183	9415	32917											
ABCC9	10060	broad.mit.edu	37	chr12	22001153	22001153	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcggagagttttcctctCtaaagtagtttggtcagctt	7	15	10	9	2	2	1	1	0	1	1	5	2	3	1	2	2	1	4	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22001153C>A	ENST00000261200.4	-	23	2796	c.2797G>T	c.(2797-2799)Gag>Tag	p.E933*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.E897*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.E933*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	933					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTTTTCCTCTCTAAAGTAGTT	0.418													A	22001153	C	A	22001153	4	1	364	1	0	0	0	0	0	1	0	0	59	922	32	4	2058	4	ABCC9	12	22001153	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2441	22001153	111850742	9416	32918											
ABCC9	10060	broad.mit.edu	37	chr12	22005070	22005070	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgccgattcataagtgttttCcagtgttcataaagctcaac	11	14	7	9	1	3	0	3	0	0	0	4	1	4	0	2	0	3	3	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22005070C>T	ENST00000261200.4	-	22	2729	c.2730G>A	c.(2728-2730)tgG>tgA	p.W910*	ABCC9_ENST00000345162.2_Nonsense_Mutation_p.W874*|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000261201.4_Nonsense_Mutation_p.W910*	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	910	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TAAGTGTTTTCCAGTGTTCAT	0.373													T	22005070	C	T	22005070	4	4	364	1	0	0	0	0	0	1	0	0	59	856	30	2	2129	2	ABCC9	12	22005070	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3917	22005070	111846825	9417	32919											
ABCC9	10060	broad.mit.edu	37	chr12	22068693	22068693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattgccttcagatcaataGgctttttgtgagcagatata	12	14	8	7	0	2	3	2	1	0	2	2	3	2	3	1	1	2	2	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22068693G>T	ENST00000261200.4	-	5	724	c.725C>A	c.(724-726)cCt>cAt	p.P242H	ABCC9_ENST00000345162.2_Missense_Mutation_p.P242H|ABCC9_ENST00000261201.4_Missense_Mutation_p.P242H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	242					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGATCAATAGGCTTTTTGTG	0.368													T	22068693	G	T	22068693	3	4	364	1	0	0	0	0	1	0	0	0	59	1000	35	4	4202	4	ABCC9	12	22068693	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63623	22068693	111783202	9418	32920											
CMAS	55907	broad.mit.edu	37	chr12	22218057	22218057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttattttacttgataggaAatgaagtgtctgatgaagag	14	15	10	2	0	1	5	0	4	1	1	1	6	1	6	0	1	1	0	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:22218057A>G	ENST00000229329.2	+	8	1247	c.1117A>G	c.(1117-1119)Aat>Gat	p.N373D		NM_018686.4	NP_061156.1	Q8NFW8	NEUA_HUMAN	cytidine monophosphate N-acetylneuraminic acid synthetase	373					lipopolysaccharide biosynthetic process	nucleus	N-acylneuraminate cytidylyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24						CTTGATAGGAAATGAAGTGTC	0.413													G	22218057	A	G	22218057	3	3	364	1	0	0	0	0	1	0	0	0	3606	14	1	3	1147	3	CMAS	12	22218057	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	149364	22218057	111633838	9419	32921											
SOX5	6660	broad.mit.edu	37	chr12	23687228	23687228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcatcctcttcctcgtcGtactcatcataaatttctcc	8	15	4	14	2	5	0	3	0	2	0	10	1	7	1	3	1	1	1	3	1	3	4	rs144757257		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23687228G>A	ENST00000546136.1	-	14	2180	c.2178C>T	c.(2176-2178)taC>taT	p.Y726Y	SOX5_ENST00000537393.1_Silent_p.Y704Y|SOX5_ENST00000545921.1_Silent_p.Y729Y|SOX5_ENST00000541536.1_Silent_p.Y618Y|SOX5_ENST00000309359.1_Silent_p.Y726Y|SOX5_ENST00000396007.2_Silent_p.Y353Y|SOX5_ENST00000381381.2_Silent_p.Y618Y|SOX5_ENST00000451604.2_Silent_p.Y739Y			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	739					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CTTCCTCGTCGTACTCATCAT	0.443													A	23687228	G	A	23687228	2	1	364	1	0	0	0	0	0	0	0	1	15048	1140	40	1		1	SOX5	12	23687228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1469171	23687228	110164667	9420	32922											
SOX5	6660	broad.mit.edu	37	chr12	23696281	23696281	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctaccacgccctcgggaTtccctataaattcttgactc	8	13	6	14	2	1	1	0	1	1	0	4	2	2	2	3	1	2	1	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23696281T>A	ENST00000546136.1	-	12	1598	c.1596A>T	c.(1594-1596)gaA>gaT	p.E532D	SOX5_ENST00000537393.1_Missense_Mutation_p.E510D|SOX5_ENST00000545921.1_Missense_Mutation_p.E535D|SOX5_ENST00000541536.1_Missense_Mutation_p.E424D|SOX5_ENST00000309359.1_Missense_Mutation_p.E532D|SOX5_ENST00000396007.2_Missense_Mutation_p.E159D|SOX5_ENST00000381381.2_Missense_Mutation_p.E424D|SOX5_ENST00000451604.2_Missense_Mutation_p.E545D			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	545					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						GCCCTCGGGATTCCCTATAAA	0.448													A	23696281	T	A	23696281	3	1	364	1	0	0	0	0	1	0	0	0	15048	1490	52	5	668	5	SOX5	12	23696281	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9053	23696281	110155614	9421	32923											
SOX5	6660	broad.mit.edu	37	chr12	23908572	23908572	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatcacaccatattacCttttatttcgccaaagttcc	14	13	2	12	1	1	0	1	0	0	0	3	0	2	0	4	0	2	1	4	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:23908572C>A	ENST00000546136.1	-	3	531	c.529G>T	c.(529-531)Ggg>Tgg	p.G177W	SOX5_ENST00000541847.1_Splice_Site_p.G180W|SOX5_ENST00000537393.1_Splice_Site_p.G155W|SOX5_ENST00000545921.1_Splice_Site_p.G180W|SOX5_ENST00000541536.1_Splice_Site_p.G177W|SOX5_ENST00000309359.1_Splice_Site_p.G177W|SOX5_ENST00000381381.2_Splice_Site_p.G177W|SOX5_ENST00000451604.2_Splice_Site_p.G190W			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	190					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						ACCATATTACCTTTTATTTCG	0.363													A	23908572	C	A	23908572	5	1	364	1	0	0	0	0	0	0	1	0	15048	695	24	4	1781	4	SOX5	12	23908572	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212291	23908572	109943323	9422	32924											
BCAT1	586	broad.mit.edu	37	chr12	25002836	25002836	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaggtcccactgggctcaaGagtacaaagagcagggcttt	12	8	12	9	0	1	2	1	0	0	2	2	2	2	2	1	3	2	4	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25002836G>T	ENST00000261192.7	-	6	1084	c.558C>A	c.(556-558)ctC>ctA	p.L186L	BCAT1_ENST00000538118.1_Silent_p.L185L|BCAT1_ENST00000539282.1_Silent_p.L198L|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000539780.1_Silent_p.L149L|BCAT1_ENST00000342945.5_Silent_p.L125L	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	186					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	CTGGGCTCAAGAGTACAAAGA	0.468													T	25002836	G	T	25002836	2	4	364	1	0	0	0	0	0	0	0	1	1359	929	33	4		4	BCAT1	12	25002836	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1094264	25002836	108849059	9423	32925											
LRMP	4033	broad.mit.edu	37	chr12	25255145	25255146	+	Frame_Shift_Ins	INS	-	-	A																															tttcagatgactgccaaattINSaaaaaacgttcagcttctct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25255145_25255146insA	ENST00000354454.3	+	16	1732_1733	c.903_904insA	c.(904-906)aaafs	p.K302fs	LRMP_ENST00000548766.1_Frame_Shift_Ins_p.K302fs|LRMP_ENST00000547044.1_Frame_Shift_Ins_p.K302fs	NM_006152.3	NP_006143.2	Q12912	LRMP_HUMAN	lymphoid-restricted membrane protein	358					vesicle fusion|vesicle targeting	endoplasmic reticulum membrane|integral to plasma membrane				breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Colorectal(261;0.11)					ACTGCCAAATTAAAAAACGTTC	0.297													A	25255146	-	A	25255145	7	5	364	1	0	1	1	0	0	0	0	0	9020	1742	61	0	949	0	LRMP	12	25255145	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	252309	25255145	108596750	9424	32926											
LYRM5	144363	broad.mit.edu	37	chr12	25357176	25357176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaatgaaagagctagaagCtttgtacttccttaggaaat	14	13	9	5	0	0	3	0	1	0	2	1	4	1	4	1	1	3	4	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25357176C>T	ENST00000557540.2	+	3	366	c.197C>T	c.(196-198)gCt>gTt	p.A66V	LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556885.1_Missense_Mutation_p.A66V|LYRM5_ENST00000556927.1_Missense_Mutation_p.A66V|LYRM5_ENST00000381356.4_Missense_Mutation_p.A68V|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000553788.1_Intron			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	66										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			GAGCTAGAAGCTTTGTACTTC	0.333													T	25357176	C	T	25357176	3	4	364	1	0	0	0	0	1	0	0	0	9193	797	28	2	209	2	LYRM5	12	25357176	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102031	25357176	108494719	9425	32927											
KRAS	3845	broad.mit.edu	37	chr12	25398280	25398280	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggcactcttgcctacGccaccagctccaactaccac	10	7	6	18	1	2	0	1	0	1	0	3	0	3	0	5	1	5	2	5	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:25398280G>A	ENST00000311936.3	-	2	230	c.39C>T	c.(37-39)ggC>ggT	p.G13G	KRAS_ENST00000556131.1_Silent_p.G13G|KRAS_ENST00000557334.1_Silent_p.G13G|KRAS_ENST00000256078.4_Silent_p.G13G	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation).|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G13D(22)|p.G13G(18)|p.G13V(6)|p.G13E(3)|p.G13_V14insG(2)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			TCTTGCCTACGCCACCAGCTC	0.343		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			A	25398280	G	A	25398280	2	1	364	1	0	0	0	0	0	0	0	1	8496	1074	38	1		1	KRAS	12	25398280	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41104	25398280	108453615	9426	32928											
SSPN	8082	broad.mit.edu	37	chr12	26383894	26383894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gattcttaatttggtctgcgGccttgtgtgcttgttggcct	3	18	12	8	1	2	0	0	0	2	0	2	1	2	0	2	3	2	2	2	3	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383894G>A	ENST00000242729.2	+	3	794	c.617G>A	c.(616-618)gGc>gAc	p.G206D	RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Missense_Mutation_p.G103D|SSPN_ENST00000540266.1_Missense_Mutation_p.G103D|SSPN_ENST00000535504.1_Intron	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	206					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TTGGTCTGCGGCCTTGTGTGC	0.507													A	26383894	G	A	26383894	3	1	364	1	0	0	0	0	1	0	0	0	15284	1203	42	2	627	2	SSPN	12	26383894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	985614	26383894	107468001	9427	32929											
SSPN	8082	broad.mit.edu	37	chr12	26383931	26383931	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgctttgtgatgtggaaAcataggtaccaggtcttcta	9	13	11	8	0	2	1	0	1	2	0	2	2	2	2	2	3	3	2	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26383931A>G	ENST00000242729.2	+	3	831	c.654A>G	c.(652-654)aaA>aaG	p.K218K	RP11-283G6.5_ENST00000540625.1_RNA|RP11-283G6.5_ENST00000537525.1_RNA|RP11-283G6.4_ENST00000540392.1_RNA|SSPN_ENST00000422622.2_Silent_p.K115K|SSPN_ENST00000540266.1_Silent_p.K115K|SSPN_ENST00000535504.1_Intron	NM_005086.4	NP_005077.2	Q14714	SSPN_HUMAN	sarcospan	218					cell adhesion|muscle contraction	cell junction|dystrophin-associated glycoprotein complex|integral to plasma membrane|postsynaptic membrane|sarcolemma|transport vesicle				kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10	Colorectal(261;0.0847)					TGATGTGGAAACATAGGTACC	0.488													G	26383931	A	G	26383931	2	3	364	1	0	0	0	0	0	0	0	1	15284	40	2	3		3	SSPN	12	26383931	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	37	26383931	107467964	9428	32930											
ITPR2	3709	broad.mit.edu	37	chr12	26493197	26493197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaatttcattttgctcaCtgtcgccttcattgctaacg	7	16	6	12	3	3	0	3	0	0	0	5	1	4	0	2	0	3	2	2	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26493197C>T	ENST00000381340.3	-	56	8338	c.7922G>A	c.(7921-7923)aGt>aAt	p.S2641N	RP11-513G19.1_ENST00000535324.1_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2641					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATTTTGCTCACTGTCGCCTTC	0.493													T	26493197	C	T	26493197	3	4	364	1	0	0	0	0	1	0	0	0	7979	565	20	2	191	2	ITPR2	12	26493197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109266	26493197	107358698	9429	32931											
ITPR2	3709	broad.mit.edu	37	chr12	26580872	26580872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaccaagaagtattaatgTaggcccaagacctattgtat	14	11	8	8	0	0	2	0	0	0	2	0	2	0	2	3	1	1	4	3	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26580872T>C	ENST00000381340.3	-	49	7335	c.6919A>G	c.(6919-6921)Aca>Gca	p.T2307A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2307					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGTATTAATGTAGGCCCAAGA	0.333													C	26580872	T	C	26580872	3	2	364	1	0	0	0	0	1	0	0	0	7979	1638	57	3	1222	3	ITPR2	12	26580872	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	87675	26580872	107271023	9430	32932											
ITPR2	3709	broad.mit.edu	37	chr12	26628240	26628240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgacacctgatgggccaGaatatagatattgtgtccaa	13	11	10	7	0	0	4	0	2	0	2	1	4	1	4	3	1	0	0	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26628240G>T	ENST00000381340.3	-	45	6747	c.6331C>A	c.(6331-6333)Ctg>Atg	p.L2111M		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	2111					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					TGATGGGCCAGAATATAGATA	0.393													T	26628240	G	T	26628240	3	4	364	1	0	0	0	0	1	0	0	0	7979	933	33	4	1826	4	ITPR2	12	26628240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47368	26628240	107223655	9431	32933											
ITPR2	3709	broad.mit.edu	37	chr12	26636744	26636744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacaggcccaggccaccggTtgtacttccacaaatgcagt	11	7	9	14	1	0	0	0	0	0	0	1	0	1	0	4	3	3	3	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26636744T>C	ENST00000381340.3	-	42	6315	c.5899A>G	c.(5899-5901)Acc>Gcc	p.T1967A		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1967					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGGCCACCGGTTGTACTTCCA	0.473													C	26636744	T	C	26636744	3	2	364	1	0	0	0	0	1	0	0	0	7979	1725	60	3	2270	3	ITPR2	12	26636744	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8504	26636744	107215151	9432	32934											
ITPR2	3709	broad.mit.edu	37	chr12	26648141	26648141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgtccattcacaccaataCtataatcacctttaaagtat	14	13	4	10	0	2	0	2	0	0	0	3	0	3	0	3	1	1	1	3	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26648141C>T	ENST00000381340.3	-	38	5542	c.5126G>A	c.(5125-5127)aGt>aAt	p.S1709N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1709					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CACACCAATACTATAATCACC	0.358													T	26648141	C	T	26648141	3	4	364	1	0	0	0	0	1	0	0	0	7979	565	20	2	3059	2	ITPR2	12	26648141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11397	26648141	107203754	9433	32935											
ITPR2	3709	broad.mit.edu	37	chr12	26755303	26755303	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaataaccaggactaacCttttcatagggtatctgcag	16	10	7	8	0	2	0	1	0	1	0	2	1	2	1	2	2	3	2	2	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26755303C>A	ENST00000381340.3	-	28	4094	c.3678G>T	c.(3676-3678)aaG>aaT	p.K1226N		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1226					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CAGGACTAACCTTTTCATAGG	0.328													A	26755303	C	A	26755303	5	1	364	1	0	0	0	0	0	0	1	0	7979	695	24	4	4547	4	ITPR2	12	26755303	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107162	26755303	107096592	9434	32936											
ITPR2	3709	broad.mit.edu	37	chr12	26777268	26777268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgcctgagctgcaattTcatctatatcaggaacaata	12	14	6	9	0	4	1	2	1	2	0	4	2	4	2	1	1	4	2	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26777268T>C	ENST00000381340.3	-	24	3502	c.3086A>G	c.(3085-3087)gAa>gGa	p.E1029G	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1029					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGCTGCAATTTCATCTATATC	0.284													C	26777268	T	C	26777268	3	2	364	1	0	0	0	0	1	0	0	0	7979	1783	62	3	5155	3	ITPR2	12	26777268	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21965	26777268	107074627	9435	32937											
ITPR2	3709	broad.mit.edu	37	chr12	26809236	26809236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttccaaacatactcatgaAttgtgatctttgtggggatt	10	17	8	6	0	2	2	1	2	1	0	3	3	3	3	1	2	2	0	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26809236A>G	ENST00000381340.3	-	19	2854	c.2438T>C	c.(2437-2439)aTt>aCt	p.I813T		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	813					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					ATACTCATGAATTGTGATCTT	0.478													G	26809236	A	G	26809236	3	3	364	1	0	0	0	0	1	0	0	0	7979	101	4	3	5823	3	ITPR2	12	26809236	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31968	26809236	107042659	9436	32938											
ITPR2	3709	broad.mit.edu	37	chr12	26818923	26818923	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacatccagaacttcttGtccattattaggcacatcag	13	11	5	12	0	2	1	1	0	1	1	4	1	4	1	3	1	2	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:26818923G>A	ENST00000381340.3	-	14	1887	c.1471C>T	c.(1471-1473)Caa>Taa	p.Q491*		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	491					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AGAACTTCTTGTCCATTATTA	0.348													A	26818923	G	A	26818923	4	1	364	1	0	0	0	0	0	1	0	0	7979	1386	48	2	6810	2	ITPR2	12	26818923	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9687	26818923	107032972	9437	32939											
ARNTL2	56938	broad.mit.edu	37	chr12	27521253	27521253	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtttccagccgcgtgagTccagggacaagaccaacagc	10	6	13	12	2	0	2	0	1	0	1	2	3	2	3	4	2	3	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27521253T>C	ENST00000544915.1	+	2	309	c.90T>C	c.(88-90)agT>agC	p.S30S	ARNTL2_ENST00000266503.5_Silent_p.S30S|ARNTL2_ENST00000546179.1_Silent_p.S41S|ARNTL2_ENST00000261178.5_Silent_p.S30S|ARNTL2_ENST00000395901.2_Silent_p.S41S|ARNTL2_ENST00000539558.1_3'UTR|ARNTL2_ENST00000311001.5_Silent_p.S30S	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	30					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					GCCGCGTGAGTCCAGGGACAA	0.468													C	27521253	T	C	27521253	2	2	364	1	0	0	0	0	0	0	0	1	973	1664	58	3		3	ARNTL2	12	27521253	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	702330	27521253	106330642	9438	32940											
ARNTL2	56938	broad.mit.edu	37	chr12	27573431	27573431	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggggggcctgggagaccCtggggacttcagtgacatcc	8	6	17	10	0	1	3	1	1	0	2	2	5	2	4	3	6	0	0	3	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27573431C>A	ENST00000544915.1	+	16	1994	c.1775C>A	c.(1774-1776)cCt>cAt	p.P592H	ARNTL2_ENST00000266503.5_Missense_Mutation_p.P626H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.P541H|ARNTL2_ENST00000546179.1_3'UTR|RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000261178.5_Missense_Mutation_p.P578H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.P589H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.P612H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	626					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					CTGGGAGACCCTGGGGACTTC	0.438													A	27573431	C	A	27573431	3	1	364	1	0	0	0	0	1	0	0	0	973	681	24	4	1943	4	ARNTL2	12	27573431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52178	27573431	106278464	9439	32941											
PPFIBP1	8496	broad.mit.edu	37	chr12	27841240	27841240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcccatagaataccatcGccccatcagaagttcagaag	13	9	7	12	1	2	3	2	0	0	3	4	3	3	3	4	0	1	2	4	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:27841240G>A	ENST00000318304.8	+	25	2681	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	PPFIBP1_ENST00000542629.1_Missense_Mutation_p.A769T|PPFIBP1_ENST00000228425.6_Missense_Mutation_p.A794T|PPFIBP1_ENST00000537927.1_Missense_Mutation_p.A647T	NM_001198916.1|NM_177444.2	NP_001185845.1|NP_803193	Q86W92	LIPB1_HUMAN	PTPRF interacting protein, binding protein 1 (liprin beta 1)	800					cell adhesion	plasma membrane	protein binding		PPFIBP1/ALK(3)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(13)|prostate(2)|skin(1)	32	Lung SC(9;0.0873)					GAATACCATCGCCCCATCAGA	0.468													A	27841240	G	A	27841240	3	1	364	1	0	0	0	0	1	0	0	0	12390	1087	38	1	2516	1	PPFIBP1	12	27841240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267809	27841240	106010655	9440	32942											
CCDC91	55297	broad.mit.edu	37	chr12	28605515	28605515	+	Silent	SNP	A	A	G																															agggaattatggaagacagaAcatgcaaaagatcaagaaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605515A>G	ENST00000545336.1	+	14	1448	c.1029A>G	c.(1027-1029)gaA>gaG	p.E343E	CCDC91_ENST00000306172.5_Silent_p.E313E|CCDC91_ENST00000381259.1_Silent_p.E343E|CCDC91_ENST00000539107.1_Silent_p.E307E|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Silent_p.E307E			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	343	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					GGAAGACAGAACATGCAAAAG	0.299													G	28605515	A	G	28605515	2	3	364	1	0	0	0	0	0	0	0	1	2898	40	2	3		3	CCDC91	12	28605515	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	764275	28605515	105246380	9441	32943	88	2									
CCDC91	55297	broad.mit.edu	37	chr12	28605525	28605525	+	Missense_Mutation	SNP	G	G	T																															ggaagacagaacatgcaaaaGatcaagaaaaagtatctcag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:28605525G>T	ENST00000545336.1	+	14	1458	c.1039G>T	c.(1039-1041)Gat>Tat	p.D347Y	CCDC91_ENST00000306172.5_Missense_Mutation_p.D317Y|CCDC91_ENST00000381259.1_Missense_Mutation_p.D347Y|CCDC91_ENST00000539107.1_Missense_Mutation_p.D311Y|CCDC91_ENST00000540401.1_3'UTR|CCDC91_ENST00000381256.1_Missense_Mutation_p.D311Y			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	347	Homodimerization.				protein transport	Golgi apparatus|membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					ACATGCAAAAGATCAAGAAAA	0.289													T	28605525	G	T	28605525	3	4	364	1	0	0	0	0	1	0	0	0	2898	942	33	4	1077	4	CCDC91	12	28605525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	28605525	105246370	9442	32944	88	2									
ERGIC2	51290	broad.mit.edu	37	chr12	29496212	29496212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagcatggttaatgatacGttcctaaaagggaggcaaaa	15	9	11	6	1	0	1	0	1	0	0	1	2	1	2	1	3	3	5	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29496212G>A	ENST00000360150.4	-	12	904	c.829C>T	c.(829-831)Cgt>Tgt	p.R277C		NM_016570.2	NP_057654.2	Q96RQ1	ERGI2_HUMAN	ERGIC and golgi 2	277					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane|nucleus				endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Lung NSC(12;2.02e-08)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)|Lung SC(9;0.184)				Arsenic trioxide(DB01169)	TTAATGATACGTTCCTAAAAG	0.418													A	29496212	G	A	29496212	3	1	364	1	0	0	0	0	1	0	0	0	5265	1145	40	1	316	1	ERGIC2	12	29496212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	890687	29496212	104355683	9443	32945											
OVCH1	341350	broad.mit.edu	37	chr12	29604283	29604283	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaaggattacctgccGtctttctcttactgtgtctt	6	15	9	11	1	3	0	0	0	3	0	4	2	3	2	3	2	3	0	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29604283G>A	ENST00000318184.5	-	22	2749	c.2750C>T	c.(2749-2751)aCg>aTg	p.T917M	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	917	CUB 3.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					ATTACCTGCCGTCTTTCTCTT	0.413													A	29604283	G	A	29604283	3	1	364	1	0	0	0	0	1	0	0	0	11399	1145	40	1	682	1	OVCH1	12	29604283	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108071	29604283	104247612	9444	32946											
OVCH1	341350	broad.mit.edu	37	chr12	29607774	29607774	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtaaacatttattacCtggccaagatgcactgtctg	13	13	7	8	0	1	1	0	0	1	1	1	1	1	1	2	1	3	2	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29607774C>T	ENST00000318184.5	-	21	2529	c.2530G>A	c.(2530-2532)Ggt>Agt	p.G844S	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	844					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CATTTATTACCTGGCCAAGAT	0.373													T	29607774	C	T	29607774	5	4	364	1	0	0	0	0	0	0	1	0	11399	695	24	2	906	2	OVCH1	12	29607774	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3491	29607774	104244121	9445	32947											
OVCH1	341350	broad.mit.edu	37	chr12	29624883	29624883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgattcttctggaaagccActggggactaaatggaggga	11	9	14	7	1	2	0	0	0	2	0	2	5	2	4	1	5	2	0	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:29624883A>G	ENST00000318184.5	-	16	1707	c.1708T>C	c.(1708-1710)Tgg>Cgg	p.W570R	OVCH1-AS1_ENST00000551108.1_Intron|OVCH1-AS1_ENST00000549411.1_Intron	NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	570					proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					CTGGAAAGCCACTGGGGACTA	0.498													G	29624883	A	G	29624883	3	3	364	1	0	0	0	0	1	0	0	0	11399	159	6	3	1748	3	OVCH1	12	29624883	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17109	29624883	104227012	9446	32948											
DDX11	1663	broad.mit.edu	37	chr12	31236770	31236770	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccttaagtcttatttgTggggccctctcttggctccg	5	15	10	11	1	2	0	0	0	2	0	5	0	4	0	3	3	0	1	3	3	3	4	rs143234228		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31236770T>C	ENST00000251758.5	+	3	419	c.168T>C	c.(166-168)tgT>tgC	p.C56C	DDX11_ENST00000407793.2_Silent_p.C56C|DDX11_ENST00000542838.1_Silent_p.C56C|DDX11_ENST00000350437.4_Silent_p.C56C|DDX11_ENST00000545668.1_Silent_p.C56C|DDX11_ENST00000228264.6_Silent_p.C30C			Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	56	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					GTCTTATTTGTGGGGCCCTCT	0.438										Multiple Myeloma(12;0.14)			C	31236770	T	C	31236770	2	2	364	1	0	0	0	0	0	0	0	1	4377	1702	59	3		3	DDX11	12	31236770	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1611887	31236770	102615125	9447	32949											
DDX11	1663	broad.mit.edu	37	chr12	31244760	31244760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgaggcgcacaacctgatCgacaccatcacgggcatgca	12	4	11	14	4	1	1	1	1	0	0	2	4	1	1	2	2	2	3	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31244760C>T	ENST00000407793.2	+	10	1448	c.1197C>T	c.(1195-1197)atC>atT	p.I399I	DDX11_ENST00000542838.1_Silent_p.I399I|DDX11_ENST00000350437.4_Silent_p.I399I|DDX11_ENST00000545668.1_Silent_p.I399I|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.I373I	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	399	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					ACAACCTGATCGACACCATCA	0.667										Multiple Myeloma(12;0.14)			T	31244760	C	T	31244760	2	4	364	1	0	0	0	0	0	0	0	1	4377	874	31	1		1	DDX11	12	31244760	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7990	31244760	102607135	9448	32950											
DDX11	1663	broad.mit.edu	37	chr12	31255888	31255888	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgtggtgatggtgggCatgcccttccccaacatcag	7	10	14	10	0	1	1	1	1	0	0	2	1	2	1	3	4	2	1	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31255888C>T	ENST00000407793.2	+	24	2642	c.2391C>T	c.(2389-2391)ggC>ggT	p.G797G	DDX11_ENST00000542838.1_Silent_p.G797G|DDX11_ENST00000350437.4_Silent_p.G747G|DDX11_ENST00000545668.1_Silent_p.G797G|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Silent_p.G771G	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	797					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGATGGTGGGCATGCCCTTCC	0.607										Multiple Myeloma(12;0.14)			T	31255888	C	T	31255888	2	4	364	1	0	0	0	0	0	0	0	1	4377	697	25	2		2	DDX11	12	31255888	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11128	31255888	102596007	9449	32951											
DDX11	1663	broad.mit.edu	37	chr12	31256654	31256654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttggccccgccattgctGctgtgcagaaggtcagtcct	5	11	11	14	1	1	1	1	0	0	1	2	1	2	1	5	2	3	3	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31256654G>A	ENST00000407793.2	+	26	2926	c.2675G>A	c.(2674-2676)tGc>tAc	p.C892Y	DDX11_ENST00000542838.1_Missense_Mutation_p.A894T|DDX11_ENST00000350437.4_Missense_Mutation_p.A844T|DDX11_ENST00000545668.1_Missense_Mutation_p.C892Y|DDX11_ENST00000251758.5_3'UTR|DDX11_ENST00000228264.6_Missense_Mutation_p.A868T	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	892					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					CGCCATTGCTGCTGTGCAGAA	0.602										Multiple Myeloma(12;0.14)			A	31256654	G	A	31256654	3	1	364	1	0	0	0	0	1	0	0	0	4377	1319	46	2	2778	2	DDX11	12	31256654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	766	31256654	102595241	9450	32952											
FAM60A	58516	broad.mit.edu	37	chr12	31446798	31446798	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttttatcctgttcccaGatagagttttcactttcttt	6	21	5	9	0	2	2	1	0	1	2	4	2	4	2	2	0	1	3	2	0	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31446798G>T	ENST00000395766.1	-	0	570				FAM60A_ENST00000539409.1_Intron|FAM60A_ENST00000454658.2_Missense_Mutation_p.S99Y|FAM60A_ENST00000542983.1_De_novo_Start_OutOfFrame|FAM60A_ENST00000337682.4_Missense_Mutation_p.S99Y	NM_001135811.1|NM_021238.2	NP_001129283.1|NP_067061.1	Q9NP50	FA60A_HUMAN	family with sequence similarity 60, member A											large_intestine(1)|lung(2)	3	all_cancers(9;5.22e-13)|all_epithelial(9;4e-13)|all_lung(12;1.2e-11)|Lung NSC(12;2.17e-09)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0207)|Lung SC(12;0.0592)|Esophageal squamous(101;0.162)					CCTGTTCCCAGATAGAGTTTT	0.323													T	31446798	G	T	31446798	1	4	364	1	0	0	0	0	0	0	0	0	5645	942	33	4		4	FAM60A	12	31446798	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190144	31446798	102405097	9451	32953											
DENND5B	160518	broad.mit.edu	37	chr12	31605026	31605026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgagctggtagtcccttaGttctgcctcttcacaatgca	8	14	8	11	0	3	1	1	1	2	0	4	1	4	1	2	1	3	4	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31605026G>T	ENST00000389082.5	-	5	1741	c.1477C>A	c.(1477-1479)Cta>Ata	p.L493I	DENND5B_ENST00000306833.6_Missense_Mutation_p.L528I|DENND5B_ENST00000354285.4_Missense_Mutation_p.L515I|DENND5B_ENST00000536562.1_Missense_Mutation_p.L528I	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	493						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TAGTCCCTTAGTTCTGCCTCT	0.458													T	31605026	G	T	31605026	3	4	364	1	0	0	0	0	1	0	0	0	4476	1020	36	4	2415	4	DENND5B	12	31605026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158228	31605026	102246869	9452	32954											
H3F3C	440093	broad.mit.edu	37	chr12	31944956	31944956	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgataacgacgaatctctcGaagcgccacggtcccaggcc	10	6	10	15	5	1	1	0	1	1	0	4	4	2	1	3	2	2	0	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:31944956G>A	ENST00000340398.3	-	1	219	c.145C>T	c.(145-147)Cga>Tga	p.R49*		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	49					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CGAATCTCTCGAAGCGCCACG	0.602										HNSCC(67;0.2)			A	31944956	G	A	31944956	4	1	364	1	0	0	0	0	0	1	0	0	6990	1066	37	1	266	1	H3F3C	12	31944956	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	339930	31944956	101906939	9453	32955											
BICD1	636	broad.mit.edu	37	chr12	32369275	32369275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcagcatcgaaggaggCttactatctggggaagatct	11	9	14	7	1	3	1	1	0	2	1	4	5	3	4	0	5	2	2	0	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32369275C>T	ENST00000548411.1	+	2	489	c.308C>T	c.(307-309)gCt>gTt	p.A103V	BICD1_ENST00000281474.5_Missense_Mutation_p.A103V	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	103					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			TCGAAGGAGGCTTACTATCTG	0.547													T	32369275	C	T	32369275	3	4	364	1	0	0	0	0	1	0	0	0	1434	797	28	2	314	2	BICD1	12	32369275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	424319	32369275	101482620	9454	32956											
FGD4	121512	broad.mit.edu	37	chr12	32760977	32760977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtatgagatgctccttaaGgactatctaaggaaattgcc	12	11	10	8	1	1	1	0	1	1	1	2	4	2	3	2	3	2	2	2	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32760977G>T	ENST00000427716.2	+	8	1504	c.1080G>T	c.(1078-1080)aaG>aaT	p.K360N	FGD4_ENST00000381025.3_Missense_Mutation_p.K112N|FGD4_ENST00000534526.2_Missense_Mutation_p.K497N|FGD4_ENST00000546442.1_Missense_Mutation_p.K267N|FGD4_ENST00000266482.3_Missense_Mutation_p.K112N|FGD4_ENST00000525053.1_Missense_Mutation_p.K472N|FGD4_ENST00000531134.1_Missense_Mutation_p.K445N	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	360	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGCTCCTTAAGGACTATCTAA	0.403													T	32760977	G	T	32760977	3	4	364	1	0	0	0	0	1	0	0	0	5884	991	35	4	1102	4	FGD4	12	32760977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391702	32760977	101090918	9455	32957											
FGD4	121512	broad.mit.edu	37	chr12	32793451	32793451	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatcatcctgaacctaagaAaaaatcagaatgctgaactc	17	9	6	9	0	2	5	2	3	0	2	4	5	3	5	2	0	3	1	2	0	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32793451A>C	ENST00000427716.2	+	17	2709	c.2285A>C	c.(2284-2286)aAa>aCa	p.K762T	FGD4_ENST00000525053.1_Missense_Mutation_p.K874T|FGD4_ENST00000546442.1_Missense_Mutation_p.K669T|FGD4_ENST00000534526.2_Missense_Mutation_p.K899T|FGD4_ENST00000531134.1_Missense_Mutation_p.K847T	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	762					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					GAACCTAAGAAAAAATCAGAA	0.488													C	32793451	A	C	32793451	3	2	364	1	0	0	0	0	1	0	0	0	5884	14	1	5	2343	5	FGD4	12	32793451	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32474	32793451	101058444	9456	32958											
DNM1L	10059	broad.mit.edu	37	chr12	32854484	32854484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagataaacggaaaacaacaGgagaagaaaatggtaaattt	23	6	9	3	1	0	3	0	0	0	3	0	5	0	4	0	3	3	1	0	3	11	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32854484G>T	ENST00000452533.2	+	2	402	c.238G>T	c.(238-240)Gga>Tga	p.G80*	DNM1L_ENST00000358214.5_Nonsense_Mutation_p.G80*|DNM1L_ENST00000414834.2_Missense_Mutation_p.Q11H|DNM1L_ENST00000549701.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000553257.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000381000.4_Nonsense_Mutation_p.G80*|DNM1L_ENST00000266481.6_Nonsense_Mutation_p.G80*|DNM1L_ENST00000547312.1_Nonsense_Mutation_p.G80*|DNM1L_ENST00000548671.1_3'UTR	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	80	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					GAAAACAACAGGAGAAGAAAA	0.363													T	32854484	G	T	32854484	4	4	364	1	0	0	0	0	0	1	0	0	4710	1001	35	4	244	4	DNM1L	12	32854484	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61033	32854484	100997411	9457	32959											
DNM1L	10059	broad.mit.edu	37	chr12	32871622	32871622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacttgatctcatggatgCgggtactgatgccatggatg	10	12	12	7	1	1	2	1	2	1	0	2	4	1	4	1	3	4	1	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:32871622C>T	ENST00000452533.2	+	7	829	c.665C>T	c.(664-666)gCg>gTg	p.A222V	DNM1L_ENST00000358214.5_Missense_Mutation_p.A235V|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000549701.1_Missense_Mutation_p.A222V|DNM1L_ENST00000553257.1_Missense_Mutation_p.A235V|DNM1L_ENST00000381000.4_Missense_Mutation_p.A235V|DNM1L_ENST00000266481.6_Missense_Mutation_p.A222V|DNM1L_ENST00000547312.1_Missense_Mutation_p.A222V	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	222	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding	p.A222V(1)		cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTCATGGATGCGGGTACTGAT	0.383													T	32871622	C	T	32871622	3	4	364	1	0	0	0	0	1	0	0	0	4710	768	27	1	691	1	DNM1L	12	32871622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17138	32871622	100980273	9458	32960											
PKP2	5318	broad.mit.edu	37	chr12	33030843	33030843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacttccccctgcggccGcctggccgacagtcaagtgc	5	7	10	19	3	1	0	1	0	0	0	3	1	3	0	6	2	2	0	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33030843G>T	ENST00000340811.4	-	3	1079	c.971C>A	c.(970-972)gCg>gAg	p.A324E	PKP2_ENST00000070846.6_Missense_Mutation_p.A324E	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	324					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CCCTGCGGCCGCCTGGCCGAC	0.622													T	33030843	G	T	33030843	3	4	364	1	0	0	0	0	1	0	0	0	12062	1087	38	4	1722	4	PKP2	12	33030843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159221	33030843	100821052	9459	32961											
PKP2	5318	broad.mit.edu	37	chr12	33031425	33031425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacggacttctgggagctgTactgtgctgttcctcttccc	4	13	10	14	1	2	0	0	0	2	0	4	2	4	2	3	2	3	4	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33031425T>C	ENST00000340811.4	-	3	497	c.389A>G	c.(388-390)tAc>tGc	p.Y130C	PKP2_ENST00000070846.6_Missense_Mutation_p.Y130C	NM_001005242.2	NP_001005242.2	Q99959	PKP2_HUMAN	plakophilin 2	130					cell-cell adhesion	desmosome|integral to membrane|nucleus	binding			NS(1)|breast(2)|endometrium(1)|kidney(9)|large_intestine(8)|lung(21)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	50	Lung NSC(5;9.35e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					CTGGGAGCTGTACTGTGCTGT	0.512													C	33031425	T	C	33031425	3	2	364	1	0	0	0	0	1	0	0	0	12062	1638	57	3	2304	3	PKP2	12	33031425	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	582	33031425	100820470	9460	32962											
SYT10	341359	broad.mit.edu	37	chr12	33535302	33535302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctatcgtaatccatgaccGcaatggagaggctgacctgg	11	8	11	11	2	0	3	0	2	0	1	2	4	1	3	4	3	0	3	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:33535302G>A	ENST00000228567.3	-	5	1648	c.1352C>T	c.(1351-1353)gCg>gTg	p.A451V	SYT10_ENST00000535526.1_Missense_Mutation_p.A270V	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	451	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCCATGACCGCAATGGAGAG	0.448													A	33535302	G	A	33535302	3	1	364	1	0	0	0	0	1	0	0	0	15563	1087	38	1	231	1	SYT10	12	33535302	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503877	33535302	100316593	9461	32963											
ALG10	84920	broad.mit.edu	37	chr12	34178815	34178815	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggctgcctcaagtatccaGagagtcttgtcaacattaac	13	10	8	10	0	3	1	2	0	1	1	4	2	4	1	2	1	3	2	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:34178815G>A	ENST00000266483.2	+	3	706	c.387G>A	c.(385-387)caG>caA	p.Q129Q	RP11-847H18.2_ENST00000501954.2_RNA|ALG10_ENST00000538927.1_Intron	NM_032834.3	NP_116223.3	Q5BKT4	AG10A_HUMAN	ALG10, alpha-1,2-glucosyltransferase	129					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26	Lung NSC(5;3.82e-05)|Acute lymphoblastic leukemia(23;0.0142)|all_hematologic(23;0.0429)	Lung NSC(34;0.204)|all_lung(34;0.235)				CAAGTATCCAGAGAGTCTTGT	0.303													A	34178815	G	A	34178815	2	1	364	1	0	0	0	0	0	0	0	1	511	933	33	2		2	ALG10	12	34178815	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	643513	34178815	99673080	9462	32964											
ALG10B	144245	broad.mit.edu	37	chr12	38712126	38712126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttggagtggtcaaacctGccatttggatctttgcatgg	8	13	12	8	0	2	0	1	0	1	0	2	2	2	2	2	4	3	2	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38712126G>A	ENST00000308742.4	+	2	551	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	ALG10B_ENST00000551464.1_Missense_Mutation_p.A79T	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	79					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				GGTCAAACCTGCCATTTGGAT	0.398													A	38712126	G	A	38712126	3	1	364	1	0	0	0	0	1	0	0	0	512	1319	46	2	241	2	ALG10B	12	38712126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4533311	38712126	95139769	9463	32965											
ALG10B	144245	broad.mit.edu	37	chr12	38714922	38714922	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtttgtgaactgagttgCtatgcaattgttaatttcat	9	19	8	5	0	1	2	1	2	0	0	1	2	1	2	0	0	3	5	0	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:38714922C>A	ENST00000308742.4	+	3	1645	c.1329C>A	c.(1327-1329)tgC>tgA	p.C443*	ALG10B_ENST00000551464.1_Intron	NM_001013620.3	NP_001013642.1	Q5I7T1	AG10B_HUMAN	ALG10B, alpha-1,2-glucosyltransferase	443					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|plasma membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			breast(2)|kidney(3)|large_intestine(7)|lung(8)|ovary(4)|skin(1)	25	Esophageal squamous(101;0.187)	Lung NSC(34;0.204)|all_lung(34;0.235)				AACTGAGTTGCTATGCAATTG	0.348													A	38714922	C	A	38714922	4	1	364	1	0	0	0	0	0	1	0	0	512	805	28	4	1339	4	ALG10B	12	38714922	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2796	38714922	95136973	9464	32966											
KIF21A	55605	broad.mit.edu	37	chr12	39725524	39725524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgacaggaagtgatctaGcaggtatcgggcttctgtaa	11	11	12	7	1	2	2	0	2	2	0	3	3	2	3	0	3	1	4	0	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39725524G>A	ENST00000395670.3	-	22	3540	c.3121C>T	c.(3121-3123)Cta>Tta	p.L1041L	KIF21A_ENST00000544797.2_Silent_p.L1028L|KIF21A_ENST00000361961.3_Silent_p.L1028L|KIF21A_ENST00000541463.2_Silent_p.L1005L|KIF21A_ENST00000361418.5_Silent_p.L1041L			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	1041					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGTGATCTAGCAGGTATCGG	0.368													A	39725524	G	A	39725524	2	1	364	1	0	0	0	0	0	0	0	1	8346	962	34	2		2	KIF21A	12	39725524	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1010602	39725524	94126371	9465	32967											
KIF21A	55605	broad.mit.edu	37	chr12	39763653	39763653	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagaaataatacccagttCttcctcaacaatgttaacat	15	12	4	10	1	2	1	1	0	1	1	4	2	3	1	2	0	3	2	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:39763653C>A	ENST00000395670.3	-	3	747	c.328G>T	c.(328-330)Gaa>Taa	p.E110*	KIF21A_ENST00000544797.2_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361961.3_Nonsense_Mutation_p.E110*|KIF21A_ENST00000541463.2_Nonsense_Mutation_p.E110*|KIF21A_ENST00000361418.5_Nonsense_Mutation_p.E110*			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	110	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				ATACCCAGTTCTTCCTCAACA	0.338													A	39763653	C	A	39763653	4	1	364	1	0	0	0	0	0	1	0	0	8346	922	32	4	4840	4	KIF21A	12	39763653	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38129	39763653	94088242	9466	32968											
C12orf40	283461	broad.mit.edu	37	chr12	40020150	40020150	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgggaagatgaattgggtCggggggtcccggtaagttgt	7	12	18	4	2	0	2	0	1	0	1	2	3	1	3	1	6	0	2	1	6	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40020150C>T	ENST00000324616.5	+	1	166	c.12C>T	c.(10-12)gtC>gtT	p.V4V	C12orf40_ENST00000405531.3_Silent_p.V4V|C12orf40_ENST00000398716.1_5'UTR	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	4								p.V4V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TGAATTGGGTCGGGGGGTCCC	0.542													T	40020150	C	T	40020150	2	4	364	1	0	0	0	0	0	0	0	1	1699	871	31	1		1	C12orf40	12	40020150	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	256497	40020150	93831745	9467	32969											
C12orf40	283461	broad.mit.edu	37	chr12	40078672	40078672	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttataatccttaggggAaatataccttcggaagaatt	14	14	8	5	1	0	1	0	0	0	1	2	3	1	3	2	3	1	1	2	3	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40078672A>G	ENST00000324616.5	+	10	1444	c.1290A>G	c.(1288-1290)ggA>ggG	p.G430G	C12orf40_ENST00000405531.3_Silent_p.G430G	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	430										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						TCCTTAGGGGAAATATACCTT	0.373													G	40078672	A	G	40078672	2	3	364	1	0	0	0	0	0	0	0	1	1699	233	9	3		3	C12orf40	12	40078672	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58522	40078672	93773223	9468	32970											
SLC2A13	114134	broad.mit.edu	37	chr12	40158579	40158579	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataaaataaggcccagaagTgcagtccaggagtatggagt	15	8	12	6	0	0	1	0	0	0	1	1	3	1	3	2	3	1	2	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40158579T>C	ENST00000280871.4	-	8	1577	c.1527A>G	c.(1525-1527)gcA>gcG	p.A509A		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	509						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GGCCCAGAAGTGCAGTCCAGG	0.348										HNSCC(50;0.14)			C	40158579	T	C	40158579	2	2	364	1	0	0	0	0	0	0	0	1	14636	1683	59	3		3	SLC2A13	12	40158579	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79907	40158579	93693316	9469	32971											
SLC2A13	114134	broad.mit.edu	37	chr12	40258676	40258676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaagaataatgagtgctaCggtggtaccttaaaaaaaaa	18	8	10	5	1	0	2	0	1	0	1	0	2	0	2	1	3	3	3	1	3	10	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40258676C>T	ENST00000280871.4	-	6	1257	c.1207G>A	c.(1207-1209)Gta>Ata	p.V403I		NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	403						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ATGAGTGCTACGGTGGTACCT	0.388										HNSCC(50;0.14)			T	40258676	C	T	40258676	3	4	364	1	0	0	0	0	1	0	0	0	14636	536	19	1	759	1	SLC2A13	12	40258676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100097	40258676	93593219	9470	32972											
SLC2A13	114134	broad.mit.edu	37	chr12	40345164	40345164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattctgcagatcacaggtCcagcttttttaagaaagaaa	14	11	8	8	0	2	3	1	0	1	3	3	3	3	3	1	1	2	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40345164C>A	ENST00000280871.4	-	4	979	c.929G>T	c.(928-930)gGa>gTa	p.G310V	SLC2A13_ENST00000380858.1_Missense_Mutation_p.G310V	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	310						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				GATCACAGGTCCAGCTTTTTT	0.373										HNSCC(50;0.14)			A	40345164	C	A	40345164	3	1	364	1	0	0	0	0	1	0	0	0	14636	855	30	4	1045	4	SLC2A13	12	40345164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86488	40345164	93506731	9471	32973											
LRRK2	120892	broad.mit.edu	37	chr12	40671969	40671969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgtgatgctagagagagCgtgtgatcagaataacagca	16	8	12	5	1	1	5	1	2	0	3	1	6	1	5	0	0	4	2	0	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40671969C>T	ENST00000298910.7	+	18	2205	c.2147C>T	c.(2146-2148)gCg>gTg	p.A716V	LRRK2_ENST00000343742.2_Missense_Mutation_p.A716V	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	716			A -> V.		activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	p.A716E(2)		NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				CTAGAGAGAGCGTGTGATCAG	0.368													T	40671969	C	T	40671969	3	4	364	1	0	0	0	0	1	0	0	0	9103	768	27	1	2217	1	LRRK2	12	40671969	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326805	40671969	93179926	9472	32974											
LRRK2	120892	broad.mit.edu	37	chr12	40681204	40681204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatatcagatgaaaagtgCtgtggaagaaggaacagcct	16	7	12	6	0	1	4	1	1	0	3	1	6	1	6	1	2	3	1	1	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40681204C>A	ENST00000298910.7	+	20	2610	c.2552C>A	c.(2551-2553)gCt>gAt	p.A851D	LRRK2_ENST00000343742.2_Missense_Mutation_p.A851D	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	851					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAAAAGTGCTGTGGAAGAA	0.378													A	40681204	C	A	40681204	3	1	364	1	0	0	0	0	1	0	0	0	9103	797	28	4	2630	4	LRRK2	12	40681204	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9235	40681204	93170691	9473	32975											
LRRK2	120892	broad.mit.edu	37	chr12	40688680	40688680	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatgaagatttactgaagCgaaaaagaaaaatattatct	20	11	6	4	1	2	4	1	2	1	2	2	5	2	4	0	0	2	0	0	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40688680C>T	ENST00000298910.7	+	22	2900	c.2842C>T	c.(2842-2844)Cga>Tga	p.R948*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.R948*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	948					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				TTTACTGAAGCGAAAAAGAAA	0.284													T	40688680	C	T	40688680	4	4	364	1	0	0	0	0	0	1	0	0	9103	760	27	1	2928	1	LRRK2	12	40688680	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7476	40688680	93163215	9474	32976											
LRRK2	120892	broad.mit.edu	37	chr12	40692959	40692959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagactgaaggaactgaaGattttaaaccttagtaagaa	17	11	9	4	0	0	5	0	3	0	3	0	7	0	6	1	1	2	1	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40692959G>T	ENST00000298910.7	+	25	3454	c.3396G>T	c.(3394-3396)aaG>aaT	p.K1132N	LRRK2_ENST00000343742.2_Missense_Mutation_p.K1132N	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1132					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				AGGAACTGAAGATTTTAAACC	0.353													T	40692959	G	T	40692959	3	4	364	1	0	0	0	0	1	0	0	0	9103	933	33	4	3494	4	LRRK2	12	40692959	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4279	40692959	93158936	9475	32977											
LRRK2	120892	broad.mit.edu	37	chr12	40697776	40697776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctttagatatgagcagcaAtgatattcagtacctaccag	13	12	8	8	0	2	3	1	2	1	1	2	3	2	3	2	0	4	3	2	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40697776A>G	ENST00000298910.7	+	27	3675	c.3617A>G	c.(3616-3618)aAt>aGt	p.N1206S	LRRK2_ENST00000343742.2_Missense_Mutation_p.N1206S	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1206					activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ATGAGCAGCAATGATATTCAG	0.353													G	40697776	A	G	40697776	3	3	364	1	0	0	0	0	1	0	0	0	9103	101	4	3	3723	3	LRRK2	12	40697776	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4817	40697776	93154119	9476	32978											
LRRK2	120892	broad.mit.edu	37	chr12	40722196	40722196	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagtttaccgagcagcCtatgaaggagaagaagtggc	13	7	14	7	1	1	3	1	1	0	2	1	6	1	4	2	3	3	2	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:40722196C>A	ENST00000298910.7	+	39	5749	c.5691C>A	c.(5689-5691)gcC>gcA	p.A1897A		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1897	Protein kinase.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				ACCGAGCAGCCTATGAAGGAG	0.303													A	40722196	C	A	40722196	2	1	364	1	0	0	0	0	0	0	0	1	9103	668	24	4		4	LRRK2	12	40722196	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24420	40722196	93129699	9477	32979											
CNTN1	1272	broad.mit.edu	37	chr12	41419010	41419010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagagttcaagtcaccaGccaagagtactcggccaggc	14	5	10	12	1	2	2	2	0	0	2	3	2	2	2	3	2	3	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41419010G>A	ENST00000551295.2	+	21	2699	c.2582G>A	c.(2581-2583)aGc>aAc	p.S861N	CNTN1_ENST00000347616.1_Missense_Mutation_p.S861N|CNTN1_ENST00000348761.2_Missense_Mutation_p.S850N|CNTN1_ENST00000550305.1_3'UTR	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	861	Fibronectin type-III 3.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				CAAGTCACCAGCCAAGAGTAC	0.483													A	41419010	G	A	41419010	3	1	364	1	0	0	0	0	1	0	0	0	3671	971	34	2	2660	2	CNTN1	12	41419010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	696814	41419010	92432885	9478	32980											
PDZRN4	29951	broad.mit.edu	37	chr12	41966493	41966493	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagctcaaatgcaagattCgaaatcatggagagtatgac	15	9	11	6	1	2	3	2	1	0	2	3	6	2	4	0	2	2	3	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966493C>T	ENST00000298919.7	+	10	1520	c.1132C>T	c.(1132-1134)Cga>Tga	p.R378*	PDZRN4_ENST00000539469.2_Nonsense_Mutation_p.R380*|PDZRN4_ENST00000402685.2_Nonsense_Mutation_p.R638*			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	638							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				ATGCAAGATTCGAAATCATGG	0.458													T	41966493	C	T	41966493	4	4	364	1	0	0	0	0	0	1	0	0	11786	876	31	1	2023	1	PDZRN4	12	41966493	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	547483	41966493	91885402	9479	32981											
PDZRN4	29951	broad.mit.edu	37	chr12	41966991	41966991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgagcaaggttgtagcGctgaaagcaaggagaaggtt	13	7	14	7	1	0	3	0	2	0	1	0	4	0	3	1	3	3	6	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:41966991G>A	ENST00000298919.7	+	10	2018	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	PDZRN4_ENST00000539469.2_Missense_Mutation_p.A546T|PDZRN4_ENST00000402685.2_Missense_Mutation_p.A804T			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	804							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				AGGTTGTAGCGCTGAAAGCAA	0.517													A	41966991	G	A	41966991	3	1	364	1	0	0	0	0	1	0	0	0	11786	1087	38	1	2521	1	PDZRN4	12	41966991	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	498	41966991	91884904	9480	32982											
GXYLT1	283464	broad.mit.edu	37	chr12	42491368	42491368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaattgcttccatatataCaatgatctggtcgataattc	12	14	7	8	1	1	1	0	1	1	0	4	2	2	1	1	2	2	2	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42491368C>T	ENST00000398675.3	-	7	1269	c.1037G>A	c.(1036-1038)tGt>tAt	p.C346Y	GXYLT1_ENST00000280876.6_Missense_Mutation_p.C315Y	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	346					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						TCCATATATACAATGATCTGG	0.373													T	42491368	C	T	42491368	3	4	364	1	0	0	0	0	1	0	0	0	6958	478	17	2	293	2	GXYLT1	12	42491368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524377	42491368	91360527	9481	32983											
PPHLN1	51535	broad.mit.edu	37	chr12	42729702	42729702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtggcttacagaagagacGaaatgtggtctgagggacga	13	8	15	5	2	1	3	0	1	1	2	1	7	1	4	0	3	1	1	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729702G>A	ENST00000549190.1	+	2	233	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Missense_Mutation_p.E7K|PPHLN1_ENST00000317560.9_Missense_Mutation_p.E7K|PPHLN1_ENST00000432191.2_5'UTR|PPHLN1_ENST00000552761.1_Missense_Mutation_p.E7K|PPHLN1_ENST00000449194.2_5'UTR|PPHLN1_ENST00000358314.7_5'UTR|PPHLN1_ENST00000395568.2_5'UTR|PPHLN1_ENST00000337898.6_5'UTR			Q8NEY8	PPHLN_HUMAN	periphilin 1	0					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CAGAAGAGACGAAATGTGGTC	0.368													A	42729702	G	A	42729702	3	1	364	1	0	0	0	0	1	0	0	0	12392	1059	37	1	25	1	PPHLN1	12	42729702	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238334	42729702	91122193	9482	32984											
PPHLN1	51535	broad.mit.edu	37	chr12	42729720	42729720	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaatgtggtctgagggaCgatatgaatatgaaagaatt	16	10	12	3	2	1	4	0	3	1	1	1	7	1	5	0	2	0	0	0	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42729720C>T	ENST00000432191.2	+	2	88	c.16C>T	c.(16-18)Cga>Tga	p.R6*	PPHLN1_ENST00000550535.1_3'UTR|PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000317560.9_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000552761.1_Nonsense_Mutation_p.R13*|PPHLN1_ENST00000549190.1_Nonsense_Mutation_p.R24*|PPHLN1_ENST00000449194.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000358314.7_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000395568.2_Nonsense_Mutation_p.R6*|PPHLN1_ENST00000337898.6_Nonsense_Mutation_p.R6*	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	0					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		GTCTGAGGGACGATATGAATA	0.378													T	42729720	C	T	42729720	4	4	364	1	0	0	0	0	0	1	0	0	12392	528	19	1	43	1	PPHLN1	12	42729720	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	42729720	91122175	9483	32985											
PPHLN1	51535	broad.mit.edu	37	chr12	42778746	42778746	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacctttccatagagtcCgtgcgtcctggtgcctccta	5	11	9	16	2	0	1	0	0	0	1	4	1	4	1	7	1	2	0	7	1	2	3	rs147227639	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42778746C>T	ENST00000432191.2	+	5	423	c.351C>T	c.(349-351)tcC>tcT	p.S117S	PPHLN1_ENST00000256678.8_Intron|PPHLN1_ENST00000395580.3_Silent_p.S179S|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000552761.1_Silent_p.S124S|PPHLN1_ENST00000549190.1_Silent_p.S190S|PPHLN1_ENST00000449194.2_Intron|PPHLN1_ENST00000358314.7_Silent_p.S172S|PPHLN1_ENST00000395568.2_Silent_p.S172S|PPHLN1_ENST00000337898.6_Silent_p.S117S	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	172					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		CCATAGAGTCCGTGCGTCCTG	0.507													T	42778746	C	T	42778746	2	4	364	1	0	0	0	0	0	0	0	1	12392	639	23	1		1	PPHLN1	12	42778746	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49026	42778746	91073149	9484	32986											
PPHLN1	51535	broad.mit.edu	37	chr12	42840048	42840048	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccattcactccagaaaatTtgttccttgctatgctctct	9	15	4	13	0	2	1	1	0	1	1	5	1	4	1	3	0	2	3	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42840048T>C	ENST00000432191.2	+	11	1306	c.1234T>C	c.(1234-1236)Ttg>Ctg	p.L412L	PPHLN1_ENST00000256678.8_Silent_p.L341L|PPHLN1_ENST00000317560.9_Intron|PPHLN1_ENST00000395568.2_Silent_p.L436L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	436					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		tccagaaaatttgttccttgc	0.478													C	42840048	T	C	42840048	2	2	364	1	0	0	0	0	0	0	0	1	12392	1838	64	3		3	PPHLN1	12	42840048	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61302	42840048	91011847	9485	32987											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854319	42854319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaactctgaacttagactCtttaaggactctgcactcct	11	12	5	13	0	3	2	0	1	3	1	4	3	4	3	1	1	3	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42854319C>A	ENST00000455697.1	-	8	2073	c.1788G>T	c.(1786-1788)aaG>aaT	p.K596N	PRICKLE1_ENST00000445766.2_Missense_Mutation_p.K596N|PRICKLE1_ENST00000548696.1_Missense_Mutation_p.K596N|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.K596N|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.K596N	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	596					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AACTTAGACTCTTTAAGGACT	0.458													A	42854319	C	A	42854319	3	1	364	1	0	0	0	0	1	0	0	0	12572	912	32	4	711	4	PRICKLE1	12	42854319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14271	42854319	90997576	9486	32988											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860069	42860069	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagcagaaggggcggccGtccttcatgatatacctctg	9	8	11	13	2	2	2	1	1	1	1	3	2	3	2	4	3	2	1	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:42860069G>A	ENST00000455697.1	-	6	987	c.702C>T	c.(700-702)gaC>gaT	p.D234D	PRICKLE1_ENST00000445766.2_Silent_p.D234D|PRICKLE1_ENST00000548696.1_Silent_p.D234D|PRICKLE1_ENST00000345127.3_Silent_p.D234D|PRICKLE1_ENST00000552240.1_Silent_p.D234D	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	234	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		AGGGGCGGCCGTCCTTCATGA	0.542													A	42860069	G	A	42860069	2	1	364	1	0	0	0	0	0	0	0	1	12572	1136	40	1		1	PRICKLE1	12	42860069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5750	42860069	90991826	9487	32989											
PUS7L	83448	broad.mit.edu	37	chr12	44139908	44139909	+	Frame_Shift_Ins	INS	-	-	T																															tttgcagaatcatttatttgINStttttttaaatttctaatga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44139908_44139909insT	ENST00000416848.2	-	4	1691_1692	c.1203_1204insA	c.(1201-1206)aaacaafs	p.Q402fs	PUS7L_ENST00000551923.1_Frame_Shift_Ins_p.Q402fs|PUS7L_ENST00000431332.3_Frame_Shift_Ins_p.Q89fs|PUS7L_ENST00000344862.5_Frame_Shift_Ins_p.Q402fs	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	402					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		TCATTTATTTGTTTTTTTAAAT	0.317													T	44139909	-	T	44139908	7	5	364	1	0	1	1	0	0	0	0	0	12922	1386	48	0	925	0	PUS7L	12	44139908	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1279839	44139908	89711987	9488	32990											
PUS7L	83448	broad.mit.edu	37	chr12	44148951	44148951	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttcaataacaataaagTcacttggtgagctttttata	15	15	5	6	0	2	1	2	1	0	0	2	1	2	1	0	1	2	1	0	1	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44148951T>C	ENST00000416848.2	-	2	586	c.98A>G	c.(97-99)gAc>gGc	p.D33G	PUS7L_ENST00000551923.1_Missense_Mutation_p.D33G|PUS7L_ENST00000553166.1_Missense_Mutation_p.D33G|PUS7L_ENST00000431332.3_Intron|PUS7L_ENST00000344862.5_Missense_Mutation_p.D33G	NM_001098615.1|NM_001271826.1	NP_001092085.1|NP_001258755.1	Q9H0K6	PUS7L_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)-like	33					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(15)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	all_cancers(12;0.00027)	Lung NSC(34;0.114)|all_lung(34;0.24)		GBM - Glioblastoma multiforme(48;0.0402)		AACAATAAAGTCACTTGGTGA	0.323													C	44148951	T	C	44148951	3	2	364	1	0	0	0	0	1	0	0	0	12922	1667	58	3	2039	3	PUS7L	12	44148951	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9043	44148951	89702944	9489	32991											
IRAK4	51135	broad.mit.edu	37	chr12	44176130	44176130	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaatatcttactggatgAagcttttactgctaaaatat	14	15	6	6	0	1	1	0	1	1	0	1	2	1	2	0	1	5	3	0	1	8	6	rs147301051		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44176130A>G	ENST00000431837.1	+	8	898	c.590A>G	c.(589-591)gAa>gGa	p.E197G	IRAK4_ENST00000448290.2_Missense_Mutation_p.E321G|IRAK4_ENST00000551736.1_Missense_Mutation_p.E321G|IRAK4_ENST00000440781.2_Missense_Mutation_p.E197G	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	321	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		TTACTGGATGAAGCTTTTACT	0.383													G	44176130	A	G	44176130	3	3	364	1	0	0	0	0	1	0	0	0	7883	246	9	3	992	3	IRAK4	12	44176130	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27179	44176130	89675765	9490	32992											
TMEM117	84216	broad.mit.edu	37	chr12	44781981	44781981	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttgaacagaaccaagctAtcctgggaatggaggtccaa	14	8	11	8	0	0	2	0	1	0	1	2	5	2	4	3	3	3	1	3	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:44781981A>G	ENST00000266534.3	+	8	1198	c.1071A>G	c.(1069-1071)ctA>ctG	p.L357L	TMEM117_ENST00000546978.1_3'UTR|TMEM117_ENST00000551577.1_3'UTR|TMEM117_ENST00000536799.1_Silent_p.L253L	NM_032256.1	NP_115632.1	Q9H0C3	TM117_HUMAN	transmembrane protein 117	357						endoplasmic reticulum|integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|urinary_tract(1)	23	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.124)		GAACCAAGCTATCCTGGGAAT	0.413													G	44781981	A	G	44781981	2	3	364	1	0	0	0	0	0	0	0	1	16131	436	16	3		3	TMEM117	12	44781981	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	605851	44781981	89069914	9491	32993											
NELL2	4753	broad.mit.edu	37	chr12	45108472	45108472	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactccagaagaggaataGactgtatttctttctccttc	11	14	6	10	0	2	3	0	0	2	3	5	4	3	4	2	1	1	1	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45108472G>T	ENST00000429094.2	-	10	1551	c.1047C>A	c.(1045-1047)gtC>gtA	p.V349V	NELL2_ENST00000551601.1_Silent_p.V348V|NELL2_ENST00000395487.2_Silent_p.V348V|NELL2_ENST00000452445.2_Silent_p.V349V|NELL2_ENST00000333837.4_Silent_p.V372V|NELL2_ENST00000437801.2_Silent_p.V399V|NELL2_ENST00000549027.1_Silent_p.V348V	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	349	VWFC 2.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AAGAGGAATAGACTGTATTTC	0.313													T	45108472	G	T	45108472	2	4	364	1	0	0	0	0	0	0	0	1	10410	929	33	4		4	NELL2	12	45108472	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326491	45108472	88743423	9492	32994											
NELL2	4753	broad.mit.edu	37	chr12	45269650	45269650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtaagacccgagactcCatggtgcggatcagctcagt	10	8	11	12	2	3	2	3	0	0	2	4	4	4	3	2	2	2	2	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45269650C>A	ENST00000437801.2	-	2	524	c.153G>T	c.(151-153)atG>atT	p.M51I	NELL2_ENST00000548826.1_Start_Codon_SNP_p.M1I|NELL2_ENST00000551601.1_5'UTR|NELL2_ENST00000452445.2_Start_Codon_SNP_p.M1I|NELL2_ENST00000333837.4_Missense_Mutation_p.M24I|NELL2_ENST00000549027.1_5'UTR|NELL2_ENST00000429094.2_Start_Codon_SNP_p.M1I	NM_001145107.1	NP_001138579.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	1	TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		CCCGAGACTCCATGGTGCGGA	0.502													A	45269650	C	A	45269650	3	1	364	1	0	0	0	0	1	0	0	0	10410	594	21	4	2583	4	NELL2	12	45269650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161178	45269650	88582245	9493	32995											
ANO6	196527	broad.mit.edu	37	chr12	45810504	45810504	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtttgggttcgtcacCttatttgtggcctcttttcc	4	19	8	10	1	3	0	2	0	1	0	5	0	4	0	3	2	0	2	3	2	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:45810504C>A	ENST00000320560.8	+	17	2236	c.2034C>A	c.(2032-2034)acC>acA	p.T678T	ANO6_ENST00000425752.2_Silent_p.T678T|ANO6_ENST00000435642.1_Silent_p.T678T|ANO6_ENST00000441606.2_Silent_p.T660T|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000423947.3_Silent_p.T699T	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	678					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						GGTTCGTCACCTTATTTGTGG	0.443													A	45810504	C	A	45810504	2	1	364	1	0	0	0	0	0	0	0	1	701	668	24	4		4	ANO6	12	45810504	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	540854	45810504	88041391	9494	32996											
ARID2	196528	broad.mit.edu	37	chr12	46211663	46211663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttgctaatgccggggtgtTtgacgacagtaagttttaag	10	13	12	6	2	0	1	0	1	0	0	0	2	0	1	1	2	2	4	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46211663T>C	ENST00000334344.6	+	5	801	c.629T>C	c.(628-630)tTt>tCt	p.F210S	ARID2_ENST00000422737.1_Missense_Mutation_p.F61S	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	210					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCCGGGGTGTTTGACGACAGT	0.318			"N, S, F"		hepatocellular carcinoma								C	46211663	T	C	46211663	3	2	364	1	0	0	0	0	1	0	0	0	918	1841	64	3	647	3	ARID2	12	46211663	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	401159	46211663	87640232	9495	32997											
ARID2	196528	broad.mit.edu	37	chr12	46231168	46231168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatactgttacaaaatgtcTaatgtcaagggatagatttt	14	15	7	5	0	3	1	2	0	1	1	3	2	3	2	0	1	2	1	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46231168T>C	ENST00000334344.6	+	9	1260	c.1088T>C	c.(1087-1089)cTa>cCa	p.L363P	ARID2_ENST00000422737.1_Missense_Mutation_p.L214P|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	363					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAAAATGTCTAATGTCAAGG	0.303			"N, S, F"		hepatocellular carcinoma								C	46231168	T	C	46231168	3	2	364	1	0	0	0	0	1	0	0	0	918	1522	53	3	1122	3	ARID2	12	46231168	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19505	46231168	87620727	9496	32998											
ARID2	196528	broad.mit.edu	37	chr12	46233126	46233126	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttagacatgttagtgtgtCtggtttctatggatattcag	8	19	10	4	0	3	1	1	0	2	1	3	2	3	2	0	2	0	2	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46233126C>A	ENST00000334344.6	+	11	1517	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	ARID2_ENST00000422737.1_Missense_Mutation_p.L300M|ARID2_ENST00000444670.1_Intron|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	449					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTTAGTGTGTCTGGTTTCTAT	0.338			"N, S, F"		hepatocellular carcinoma								A	46233126	C	A	46233126	3	1	364	1	0	0	0	0	1	0	0	0	918	912	32	4	1387	4	ARID2	12	46233126	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1958	46233126	87618769	9497	32999											
ARID2	196528	broad.mit.edu	37	chr12	46244611	46244611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgcaccaaaacctctccCttctcagcaagtttcatcta	11	12	3	15	0	4	0	2	0	3	0	6	0	4	0	3	0	3	3	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244611C>A	ENST00000334344.6	+	15	2877	c.2705C>A	c.(2704-2706)cCt>cAt	p.P902H	ARID2_ENST00000422737.1_Missense_Mutation_p.P753H|ARID2_ENST00000444670.1_Missense_Mutation_p.P512H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	902	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AAACCTCTCCCTTCTCAGCAA	0.468			"N, S, F"		hepatocellular carcinoma								A	46244611	C	A	46244611	3	1	364	1	0	0	0	0	1	0	0	0	918	681	24	4	2763	4	ARID2	12	46244611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11485	46244611	87607284	9498	33000											
ARID2	196528	broad.mit.edu	37	chr12	46244955	46244955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcagcaacagcagcaaCattcaccagcacccccacca	16	2	6	17	0	1	0	1	0	0	0	1	0	1	0	4	1	6	5	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46244955C>T	ENST00000334344.6	+	15	3221	c.3049C>T	c.(3049-3051)Cat>Tat	p.H1017Y	ARID2_ENST00000422737.1_Missense_Mutation_p.H868Y|ARID2_ENST00000444670.1_Missense_Mutation_p.H627Y|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1017	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		ACAGCAGCAACATTCACCAGC	0.512			"N, S, F"		hepatocellular carcinoma								T	46244955	C	T	46244955	3	4	364	1	0	0	0	0	1	0	0	0	918	478	17	2	3107	2	ARID2	12	46244955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	344	46244955	87606940	9499	33001											
ARID2	196528	broad.mit.edu	37	chr12	46245184	46245184	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaataatgcaagagctcCtagccctcaggtggtctatc	10	10	8	13	0	2	1	1	0	1	1	4	1	3	1	3	2	3	2	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245184C>A	ENST00000334344.6	+	15	3450	c.3278C>A	c.(3277-3279)cCt>cAt	p.P1093H	ARID2_ENST00000422737.1_Missense_Mutation_p.P944H|ARID2_ENST00000444670.1_Missense_Mutation_p.P703H|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1093	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAAGAGCTCCTAGCCCTCAG	0.517			"N, S, F"		hepatocellular carcinoma								A	46245184	C	A	46245184	3	1	364	1	0	0	0	0	1	0	0	0	918	681	24	4	3336	4	ARID2	12	46245184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229	46245184	87606711	9500	33002											
ARID2	196528	broad.mit.edu	37	chr12	46245654	46245654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgccaaaaggaggaggaaGcaaaggaagcaacaggttta	17	6	13	5	0	0	0	0	0	0	0	0	4	0	4	1	5	4	3	1	5	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46245654G>A	ENST00000334344.6	+	15	3920	c.3748G>A	c.(3748-3750)Gca>Aca	p.A1250T	ARID2_ENST00000422737.1_Missense_Mutation_p.A1101T|ARID2_ENST00000444670.1_Missense_Mutation_p.A860T|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1250					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAGGAGGAAGCAAAGGAAGC	0.468			"N, S, F"		hepatocellular carcinoma								A	46245654	G	A	46245654	3	1	364	1	0	0	0	0	1	0	0	0	918	971	34	2	3806	2	ARID2	12	46245654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	470	46245654	87606241	9501	33003											
ARID2	196528	broad.mit.edu	37	chr12	46246095	46246095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatctccaatggaaccacaaGggactttagatatcactcag	14	10	7	10	0	3	1	2	0	1	1	4	3	3	3	2	2	1	0	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246095G>T	ENST00000334344.6	+	15	4361	c.4189G>T	c.(4189-4191)Ggg>Tgg	p.G1397W	ARID2_ENST00000422737.1_Missense_Mutation_p.G1248W|ARID2_ENST00000444670.1_Missense_Mutation_p.G1007W|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.G5W	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1397					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAACCACAAGGGACTTTAGA	0.368			"N, S, F"		hepatocellular carcinoma								T	46246095	G	T	46246095	3	4	364	1	0	0	0	0	1	0	0	0	918	1000	35	4	4247	4	ARID2	12	46246095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	441	46246095	87605800	9502	33004											
ARID2	196528	broad.mit.edu	37	chr12	46246205	46246205	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgagcagtatacaggaGgcttcaaatgcggcaacaca	13	8	11	9	1	2	1	1	1	1	0	2	2	2	2	0	3	4	4	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246205G>T	ENST00000334344.6	+	15	4471	c.4299G>T	c.(4297-4299)gaG>gaT	p.E1433D	ARID2_ENST00000422737.1_Missense_Mutation_p.E1284D|ARID2_ENST00000444670.1_Missense_Mutation_p.E1043D|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.E41D	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1433					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GTATACAGGAGGCTTCAAATG	0.423			"N, S, F"		hepatocellular carcinoma								T	46246205	G	T	46246205	3	4	364	1	0	0	0	0	1	0	0	0	918	991	35	4	4357	4	ARID2	12	46246205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110	46246205	87605690	9503	33005											
ARID2	196528	broad.mit.edu	37	chr12	46246368	46246368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaaatcatagcagttcccGactcaggatcaaaagtatcc	15	9	6	11	1	4	0	4	0	0	0	6	2	6	1	2	1	1	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46246368G>A	ENST00000334344.6	+	15	4634	c.4462G>A	c.(4462-4464)Gac>Aac	p.D1488N	ARID2_ENST00000422737.1_Missense_Mutation_p.D1339N|ARID2_ENST00000444670.1_Missense_Mutation_p.D1098N|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_Missense_Mutation_p.D96N	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1488					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGCAGTTCCCGACTCAGGATC	0.458			"N, S, F"		hepatocellular carcinoma								A	46246368	G	A	46246368	3	1	364	1	0	0	0	0	1	0	0	0	918	1058	37	1	4520	1	ARID2	12	46246368	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163	46246368	87605527	9504	33006											
SLC38A1	81539	broad.mit.edu	37	chr12	46594935	46594935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtacataacaaacatggCgaaaaaggagatgtttgaaa	20	7	10	4	1	0	2	0	1	0	1	0	5	0	2	0	2	3	2	0	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:46594935C>T	ENST00000398637.5	-	13	1643	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	SLC38A1_ENST00000439706.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000552197.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549049.1_Missense_Mutation_p.A317T|SLC38A1_ENST00000549633.1_5'UTR|SLC38A1_ENST00000546893.1_Missense_Mutation_p.A317T	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	317					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity	p.A317T(1)		NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			ACAAACATGGCGAAAAAGGAG	0.289													T	46594935	C	T	46594935	3	4	364	1	0	0	0	0	1	0	0	0	14695	768	27	1	534	1	SLC38A1	12	46594935	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348567	46594935	87256960	9505	33007											
AMIGO2	347902	broad.mit.edu	37	chr12	47472371	47472371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttccagaaccttcaactCttggaatacagcatttttca	12	13	4	12	0	3	1	2	0	1	1	4	2	4	2	2	1	4	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472371C>T	ENST00000266581.4	-	2	881	c.415G>A	c.(415-417)Gag>Aag	p.E139K	AMIGO2_ENST00000321382.3_Missense_Mutation_p.E139K|AMIGO2_ENST00000429635.1_Missense_Mutation_p.E139K|AMIGO2_ENST00000550413.1_Missense_Mutation_p.E139K	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	139					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					ACCTTCAACTCTTGGAATACA	0.438													T	47472371	C	T	47472371	3	4	364	1	0	0	0	0	1	0	0	0	576	922	32	2	1157	2	AMIGO2	12	47472371	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	877436	47472371	86379524	9506	33008											
AMIGO2	347902	broad.mit.edu	37	chr12	47472640	47472640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcagctgacgatgtcaGtggcacagatgcaagcggtg	9	8	16	8	2	1	2	1	1	0	1	1	3	1	2	0	3	4	4	0	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:47472640G>A	ENST00000266581.4	-	2	612	c.146C>T	c.(145-147)aCt>aTt	p.T49I	AMIGO2_ENST00000321382.3_Missense_Mutation_p.T49I|AMIGO2_ENST00000429635.1_Missense_Mutation_p.T49I|AMIGO2_ENST00000550413.1_Missense_Mutation_p.T49I	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	49	LRRNT.				heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					GACGATGTCAGTGGCACAGAT	0.547													A	47472640	G	A	47472640	3	1	364	1	0	0	0	0	1	0	0	0	576	1029	36	2	1426	2	AMIGO2	12	47472640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	47472640	86379255	9507	33009											
ENDOU	8909	broad.mit.edu	37	chr12	48110168	48110168	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcctgctcggccagctcCtgggcactgaagtgctcccc	4	8	12	17	2	0	1	0	1	0	0	4	1	3	1	5	2	3	4	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110168C>A	ENST00000542202.1	-	0	415				ENDOU_ENST00000422538.3_Missense_Mutation_p.Q222H|ENDOU_ENST00000545824.2_Missense_Mutation_p.Q159H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000229003.3_Missense_Mutation_p.Q181H			P21128	ENDOU_HUMAN	endonuclease, polyU-specific						female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CGGCCAGCTCCTGGGCACTGA	0.562											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48110168	C	A	48110168	1	1	364	1	0	0	0	0	0	0	0	0	5157	680	24	4		4	ENDOU	12	48110168	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	637528	48110168	85741727	9508	33010											
ENDOU	8909	broad.mit.edu	37	chr12	48110685	48110685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaactcacggctttgggcagCgatccacttggtttctggtc	6	12	12	11	2	2	0	1	0	1	0	4	2	3	0	1	4	2	3	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48110685C>T	ENST00000422538.3	-	5	661	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ENDOU_ENST00000545824.2_Missense_Mutation_p.R117H|RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000542202.1_5'UTR|ENDOU_ENST00000229003.3_Missense_Mutation_p.R139H	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	180					female pregnancy|immune response|proteolysis	cytoplasm|extracellular space|plasma membrane	endoribonuclease activity|growth factor activity|manganese ion binding|polysaccharide binding|RNA binding|scavenger receptor activity|serine-type peptidase activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						CTTTGGGCAGCGATCCACTTG	0.483											OREG0021752	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48110685	C	T	48110685	3	4	364	1	0	0	0	0	1	0	0	0	5157	768	27	1	717	1	ENDOU	12	48110685	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	517	48110685	85741210	9509	33011											
RAPGEF3	10411	broad.mit.edu	37	chr12	48141499	48141499	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcactcccaggtacctggAggaagctggtggccacaggg	8	6	14	13	0	1	0	1	0	0	0	2	2	2	2	4	6	2	2	4	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48141499A>T	ENST00000405493.2	-	14	1552	c.1343T>A	c.(1342-1344)cTc>cAc	p.L448H	RAPGEF3_ENST00000171000.4_Missense_Mutation_p.L448H|RAPGEF3_ENST00000449771.2_Missense_Mutation_p.L490H|RAPGEF3_ENST00000548919.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000389212.3_Missense_Mutation_p.L490H|RAPGEF3_ENST00000549151.1_Missense_Mutation_p.L448H|RAPGEF3_ENST00000395358.3_Missense_Mutation_p.L490H	NM_001098532.2|NM_006105.5	NP_001092002|NP_006096	A8K2G5	A8K2G5_HUMAN	Rap guanine nucleotide exchange factor (GEF) 3	448					regulation of protein phosphorylation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cAMP-dependent protein kinase complex	cAMP-dependent protein kinase regulator activity|guanyl-nucleotide exchange factor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(7)	25	Lung SC(27;0.192)			GBM - Glioblastoma multiforme(48;0.0375)		AGGTACCTGGAGGAAGCTGGT	0.597													T	48141499	A	T	48141499	3	4	364	1	0	0	0	0	1	0	0	0	13133	304	11	5	1362	5	RAPGEF3	12	48141499	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30814	48141499	85710396	9510	33012											
VDR	7421	broad.mit.edu	37	chr12	48251023	48251023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctccaccatcattcacacGaactggaggctggaagggaa	12	6	10	13	1	2	0	2	0	0	0	3	4	3	3	3	4	1	1	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48251023G>A	ENST00000229022.3	-	7	753	c.472C>T	c.(472-474)Cgt>Tgt	p.R158C	VDR_ENST00000549336.1_Missense_Mutation_p.R158C|VDR_ENST00000395324.2_Missense_Mutation_p.R158C|VDR_ENST00000535672.1_Missense_Mutation_p.R126C|VDR_ENST00000550325.1_Missense_Mutation_p.R208C	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	158	Hinge.				decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	TCATTCACACGAACTGGAGGC	0.552													A	48251023	G	A	48251023	3	1	364	1	0	0	0	0	1	0	0	0	17251	1058	37	1	831	1	VDR	12	48251023	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109524	48251023	85600872	9511	33013											
TMEM106C	79022	broad.mit.edu	37	chr12	48361031	48361031	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctggtgcacaacataGtgatcttcatgcggtgcgtc	9	11	11	10	2	2	2	1	1	1	1	4	2	3	2	1	2	4	1	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48361031G>C	ENST00000429772.2	+	7	756	c.643G>C	c.(643-645)Gtg>Ctg	p.V215L	TMEM106C_ENST00000550552.1_Missense_Mutation_p.V196L|TMEM106C_ENST00000449758.2_Missense_Mutation_p.V196L|TMEM106C_ENST00000552546.1_Missense_Mutation_p.V144L|TMEM106C_ENST00000552561.1_Missense_Mutation_p.V215L|TMEM106C_ENST00000549288.1_Intron|TMEM106C_ENST00000256686.6_Missense_Mutation_p.V196L	NM_001143842.1	NP_001137314.1	Q9BVX2	T106C_HUMAN	transmembrane protein 106C	215						endoplasmic reticulum membrane|integral to membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(3)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(13;0.11)		GBM - Glioblastoma multiforme(48;0.241)		GCACAACATAGTGATCTTCAT	0.498													C	48361031	G	C	48361031	3	2	364	1	0	0	0	0	1	0	0	0	16122	1029	36	4	665	4	TMEM106C	12	48361031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110008	48361031	85490864	9512	33014											
COL2A1	1280	broad.mit.edu	37	chr12	48367317	48367317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtactcgataacagtcttgCcccacttaccggtatgtttc	8	13	8	12	2	1	0	0	0	1	0	3	1	1	0	3	2	4	3	3	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48367317C>T	ENST00000380518.3	-	54	4501	c.4337G>A	c.(4336-4338)gGc>gAc	p.G1446D	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G1377D	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1446	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACAGTCTTGCCCCACTTACC	0.532													T	48367317	C	T	48367317	3	4	364	1	0	0	0	0	1	0	0	0	3718	739	26	2	130	2	COL2A1	12	48367317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6286	48367317	85484578	9513	33015											
COL2A1	1280	broad.mit.edu	37	chr12	48374399	48374399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcatcgcctttctggcCggcctctccttgctcaccct	4	11	7	19	2	3	0	1	0	2	0	5	0	3	0	6	2	2	2	6	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48374399C>T	ENST00000380518.3	-	39	2727	c.2563G>A	c.(2563-2565)Ggc>Agc	p.G855S	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G786S	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	855	Triple-helical region.		G -> S (in SEDC).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCTTTCTGGCCGGCCTCTCCT	0.617													T	48374399	C	T	48374399	3	4	364	1	0	0	0	0	1	0	0	0	3718	652	23	1	1964	1	COL2A1	12	48374399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7082	48374399	85477496	9514	33016											
COL2A1	1280	broad.mit.edu	37	chr12	48379542	48379542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccaggttctccaggaCggccagggtcaccgttggct	7	7	15	12	2	2	0	1	0	1	0	3	2	2	1	4	6	0	3	4	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48379542C>T	ENST00000380518.3	-	25	1813	c.1649G>A	c.(1648-1650)cGt>cAt	p.R550H	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.R481H	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	550	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TTCTCCAGGACGGCCAGGGTC	0.647													T	48379542	C	T	48379542	3	4	364	1	0	0	0	0	1	0	0	0	3718	536	19	1	2934	1	COL2A1	12	48379542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5143	48379542	85472353	9515	33017											
OR10AD1	121275	broad.mit.edu	37	chr12	48596366	48596366	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcacaagtagagaaagtcTtcccccgacctgaggaggag	13	5	13	10	1	1	2	0	1	1	1	2	6	2	4	3	3	0	2	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48596366T>G	ENST00000310248.2	-	1	804	c.710A>C	c.(709-711)aAg>aCg	p.K237T		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	237					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						AGAGAAAGTCTTCCCCCGACC	0.532													G	48596366	T	G	48596366	3	3	364	1	0	0	0	0	1	0	0	0	10972	1609	56	5	247	5	OR10AD1	12	48596366	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	216824	48596366	85255529	9516	33018											
ZNF641	121274	broad.mit.edu	37	chr12	48741014	48741014	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgggaccacaggagacGccaagggaagcagagctcac	13	3	15	10	1	1	3	1	1	0	2	1	6	1	5	2	3	2	2	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48741014G>A	ENST00000448928.3	-	3	352	c.297C>T	c.(295-297)ggC>ggT	p.G99G	ZNF641_ENST00000547026.1_Intron|ZNF641_ENST00000544117.2_Intron|ZNF641_ENST00000301042.3_Intron	NM_001172682.1	NP_001166153.1	Q96N77	ZN641_HUMAN	zinc finger protein 641	117					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	12						CACAGGAGACGCCAAGGGAAG	0.527													A	48741014	G	A	48741014	2	1	364	1	0	0	0	0	0	0	0	1	18158	1074	38	1		1	ZNF641	12	48741014	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144648	48741014	85110881	9517	33019											
ANP32D	23519	broad.mit.edu	37	chr12	48866754	48866754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaacaaaattaaagacCtcagcacaatagagcccctg	16	6	8	11	0	1	2	1	0	0	2	1	2	1	2	3	1	3	2	3	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:48866754C>A	ENST00000266594.1	+	1	307	c.307C>A	c.(307-309)Ctc>Atc	p.L103I		NM_012404.2	NP_036536.2	O95626	AN32D_HUMAN	acidic (leucine-rich) nuclear phosphoprotein 32 family, member D	103										central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	9						AATTAAAGACCTCAGCACAAT	0.408													A	48866754	C	A	48866754	3	1	364	1	0	0	0	0	1	0	0	0	708	681	24	4	309	4	ANP32D	12	48866754	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125740	48866754	84985141	9518	33020											
DDX23	9416	broad.mit.edu	37	chr12	49224261	49224261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgctgtgtcaggcaaaGatggtctcttcccggcgctt	7	11	13	10	2	2	2	1	0	1	2	4	2	3	2	1	3	1	3	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49224261G>T	ENST00000308025.3	-	17	2533	c.2454C>A	c.(2452-2454)atC>atA	p.I818I		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	818						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						GTCAGGCAAAGATGGTCTCTT	0.567													T	49224261	G	T	49224261	2	4	364	1	0	0	0	0	0	0	0	1	4384	932	33	4		4	DDX23	12	49224261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	357507	49224261	84627634	9519	33021											
DDX23	9416	broad.mit.edu	37	chr12	49230527	49230527	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctgagaccaatgacgaTcatcccagcgctgcttggct	8	12	9	12	2	2	2	1	2	1	1	3	4	3	2	2	1	2	3	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49230527T>C	ENST00000308025.3	-	10	1140	c.1061A>G	c.(1060-1062)gAt>gGt	p.D354G		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	354						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						CCAATGACGATCATCCCAGCG	0.527													C	49230527	T	C	49230527	3	2	364	1	0	0	0	0	1	0	0	0	4384	1435	50	3	1433	3	DDX23	12	49230527	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6266	49230527	84621368	9520	33022											
DDX23	9416	broad.mit.edu	37	chr12	49239515	49239515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgatcgcttcctttcctcCttggaaggtgatgcatcacg	6	13	10	12	3	1	2	1	2	0	0	5	3	4	3	3	2	1	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49239515C>A	ENST00000308025.3	-	2	130	c.51G>T	c.(49-51)aaG>aaT	p.K17N	DDX23_ENST00000553182.1_5'UTR	NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	17						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						TCCTTTCCTCCTTGGAAGGTG	0.507													A	49239515	C	A	49239515	3	1	364	1	0	0	0	0	1	0	0	0	4384	680	24	4	2475	4	DDX23	12	49239515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8988	49239515	84612380	9521	33023											
RND1	27289	broad.mit.edu	37	chr12	49251978	49251978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttctgaggtgaaagctgagCcttccaggtagatttctgca	9	13	11	8	0	2	4	0	3	2	1	3	4	3	4	2	2	3	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49251978C>T	ENST00000309739.5	-	5	630	c.500G>A	c.(499-501)gGc>gAc	p.G167D		NM_014470.3	NP_055285.1	Q92730	RND1_HUMAN	Rho family GTPase 1	167					actin filament organization|axon guidance|negative regulation of cell adhesion|neuron remodeling|small GTPase mediated signal transduction	adherens junction|cytoskeleton|cytosol	GTP binding|GTPase activity|receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(2)|skin(1)|urinary_tract(1)	10						GAAAGCTGAGCCTTCCAGGTA	0.557													T	49251978	C	T	49251978	3	4	364	1	0	0	0	0	1	0	0	0	13510	739	26	2	202	2	RND1	12	49251978	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12463	49251978	84599917	9522	33024											
CCDC65	85478	broad.mit.edu	37	chr12	49298804	49298804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacagtggagaactgtccttCgggaagtcaagaccagagaa	14	6	12	9	1	1	3	1	0	0	3	3	6	2	4	2	2	1	0	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49298804C>T	ENST00000266984.5	+	2	435	c.208C>T	c.(208-210)Cgg>Tgg	p.R70W	CCDC65_ENST00000320516.4_Missense_Mutation_p.R70W|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	70										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						AACTGTCCTTCGGGAAGTCAA	0.448													T	49298804	C	T	49298804	3	4	364	1	0	0	0	0	1	0	0	0	2865	875	31	1	214	1	CCDC65	12	49298804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46826	49298804	84553091	9523	33025											
CCDC65	85478	broad.mit.edu	37	chr12	49312551	49312551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtatatccgtaatgacaaGgaattggtccttgtacaact	12	12	9	8	2	0	1	0	1	0	0	2	2	2	2	2	3	2	3	2	3	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49312551G>T	ENST00000266984.5	+	6	1118	c.891G>T	c.(889-891)aaG>aaT	p.K297N	CCDC65_ENST00000320516.4_Missense_Mutation_p.K297N|RP11-302B13.5_ENST00000398092.4_Intron			Q8IXS2	CCD65_HUMAN	coiled-coil domain containing 65	297										breast(1)|large_intestine(4)|lung(7)|ovary(1)|skin(2)	15						GTAATGACAAGGAATTGGTCC	0.458													T	49312551	G	T	49312551	3	4	364	1	0	0	0	0	1	0	0	0	2865	991	35	4	913	4	CCDC65	12	49312551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13747	49312551	84539344	9524	33026											
PRKAG1	5571	broad.mit.edu	37	chr12	49396702	49396702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcttcttctctccacCtgtgagcaccagggcctgca	6	10	10	15	0	3	1	1	1	2	0	5	1	4	1	4	2	2	3	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49396702C>A	ENST00000548065.1	-	12	1432	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547395.1_RNA|PRKAG1_ENST00000316299.5_Missense_Mutation_p.G335C|PRKAG1_ENST00000552212.1_Missense_Mutation_p.G294C|PRKAG1_ENST00000395170.3_Missense_Mutation_p.G242C|PRKAG1_ENST00000547306.1_Missense_Mutation_p.G275C|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA			P54619	AAKG1_HUMAN	protein kinase, AMP-activated, gamma 1 non-catalytic subunit	326	CBS 4.				cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|positive regulation of protein kinase activity|regulation of fatty acid oxidation|regulation of glycolysis|spermatogenesis	cytosol	cAMP-dependent protein kinase activity|cAMP-dependent protein kinase regulator activity|protein kinase binding			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	9						TTCTCTCCACCTGTGAGCACC	0.542													A	49396702	C	A	49396702	3	1	364	1	0	0	0	0	1	0	0	0	12586	681	24	4	23	4	PRKAG1	12	49396702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84151	49396702	84455193	9525	33027											
TUBA1A	7846	broad.mit.edu	37	chr12	49580426	49580426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaagtctacaaacactGcccggggcacatgcttgcca	10	8	9	14	1	1	0	0	0	1	0	2	0	2	0	3	2	5	3	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49580426G>A	ENST00000301071.7	-	2	538	c.194C>T	c.(193-195)gCa>gTa	p.A65V	TUBA1A_ENST00000546918.1_Missense_Mutation_p.A65V|TUBA1A_ENST00000295766.5_Missense_Mutation_p.A65V|TUBA1A_ENST00000550767.1_Missense_Mutation_p.A30V	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	65					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						TACAAACACTGCCCGGGGCAC	0.572													A	49580426	G	A	49580426	3	1	364	1	0	0	0	0	1	0	0	0	16845	1319	46	2	1173	2	TUBA1A	12	49580426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183724	49580426	84271469	9526	33028											
PRPH	5630	broad.mit.edu	37	chr12	49691175	49691175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagttgagagagctggaGgagcagttcgccctggaggc	9	6	18	8	1	0	2	0	1	0	1	1	6	0	5	1	5	2	5	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49691175G>T	ENST00000257860.4	+	6	2531	c.1032G>T	c.(1030-1032)gaG>gaT	p.E344D	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P41219	PERI_HUMAN	peripherin	344	Coil 2.|Rod.						structural molecule activity			kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGAGCTGGAGGAGCAGTTCG	0.672											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	49691175	G	T	49691175	3	4	364	1	0	0	0	0	1	0	0	0	12662	991	35	4	1054	4	PRPH	12	49691175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110749	49691175	84160720	9527	33029											
TROAP	10024	broad.mit.edu	37	chr12	49724763	49724763	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagtgtgaacacaagaGgtcctcacctcactgtgagc	12	7	12	10	0	2	3	2	2	0	1	3	5	3	4	2	2	2	0	2	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49724763G>T	ENST00000551245.1	+	13	2246	c.2135G>T	c.(2134-2136)aGg>aTg	p.R712M	TROAP_ENST00000257909.3_Intron|TROAP_ENST00000547923.1_Intron			Q12815	TROAP_HUMAN	trophinin associated protein	729					cell adhesion	cytoplasm				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	32						GAACACAAGAGGTCCTCACCT	0.617													T	49724763	G	T	49724763	3	4	364	1	0	0	0	0	1	0	0	0	16676	1015	35	4		4	TROAP	12	49724763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33588	49724763	84127132	9528	33030											
SPATS2	65244	broad.mit.edu	37	chr12	49918607	49918607	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacaagtgctaacaagaaAaactttgcaccgggagagac	16	7	9	9	1	0	2	0	0	0	2	0	4	0	3	1	1	5	2	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49918607A>C	ENST00000553127.1	+	14	1767	c.1254A>C	c.(1252-1254)aaA>aaC	p.K418N	SPATS2_ENST00000321898.6_Missense_Mutation_p.K418N|SPATS2_ENST00000552918.1_Missense_Mutation_p.K418N			Q86XZ4	SPAS2_HUMAN	spermatogenesis associated, serine-rich 2	418						cytoplasm				breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(1)|prostate(1)|urinary_tract(4)	21						CTAACAAGAAAAACTTTGCAC	0.532													C	49918607	A	C	49918607	3	2	364	1	0	0	0	0	1	0	0	0	15115	11	1	5	1296	5	SPATS2	12	49918607	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	193844	49918607	83933288	9529	33031											
KCNH3	23416	broad.mit.edu	37	chr12	49950198	49950198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctcggaccagcccaaGttctctttccgcgtgggcca	5	10	12	14	3	1	0	0	0	1	0	4	1	2	1	4	3	1	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950198G>A	ENST00000257981.6	+	13	2774	c.2514G>A	c.(2512-2514)aaG>aaA	p.K838K		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	838					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						ACCAGCCCAAGTTCTCTTTCC	0.617													A	49950198	G	A	49950198	2	1	364	1	0	0	0	0	0	0	0	1	8091	1020	36	2		2	KCNH3	12	49950198	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31591	49950198	83901697	9530	33032											
KCNH3	23416	broad.mit.edu	37	chr12	49950231	49950231	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggccagtctggcccggaAtgtagcagcagcccctcccc	6	6	13	16	1	1	0	0	0	1	0	2	1	2	1	6	3	3	3	6	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49950231A>G	ENST00000257981.6	+	13	2807	c.2547A>G	c.(2545-2547)gaA>gaG	p.E849E		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	849					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						CTGGCCCGGAATGTAGCAGCA	0.617													G	49950231	A	G	49950231	2	3	364	1	0	0	0	0	0	0	0	1	8091	98	4	3		3	KCNH3	12	49950231	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33	49950231	83901664	9531	33033											
FAM186B	84070	broad.mit.edu	37	chr12	49982250	49982250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctaccgggccatctgcaGgggcacacatgcccggtgcc	8	5	12	16	2	1	0	0	0	1	0	1	0	1	0	5	4	5	2	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49982250G>T	ENST00000544141.1	-	6	2850	c.2251C>A	c.(2251-2253)Ctg>Atg	p.L751M	FAM186B_ENST00000257894.2_Missense_Mutation_p.L841M|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	841						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCCATCTGCAGGGGCACACAT	0.637													T	49982250	G	T	49982250	3	4	364	1	0	0	0	0	1	0	0	0	5558	991	35	4	168	4	FAM186B	12	49982250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32019	49982250	83869645	9532	33034											
FAM186B	84070	broad.mit.edu	37	chr12	49992709	49992709	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccgtttctttcatgatttgTacatggttgatcgcttcttg	5	20	8	8	2	3	2	1	2	2	0	5	2	4	2	1	1	1	4	1	1	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49992709T>C	ENST00000544141.1	-	5	2522	c.1923A>G	c.(1921-1923)gtA>gtG	p.V641V	FAM186B_ENST00000257894.2_Silent_p.V731V|FAM186B_ENST00000551047.1_Intron			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	731						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCATGATTTGTACATGGTTGA	0.507													C	49992709	T	C	49992709	2	2	364	1	0	0	0	0	0	0	0	1	5558	1625	57	3		3	FAM186B	12	49992709	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10459	49992709	83859186	9533	33035											
FAM186B	84070	broad.mit.edu	37	chr12	49994230	49994230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacatctgcgaccctcgagCgcacagtcatggtggaaagt	11	7	11	12	3	2	0	1	0	1	0	3	3	2	1	1	2	2	1	1	2	1	0	rs150662932		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:49994230C>T	ENST00000544141.1	-	4	1522	c.923G>A	c.(922-924)cGc>cAc	p.R308H	FAM186B_ENST00000257894.2_Missense_Mutation_p.R398H|FAM186B_ENST00000551047.1_Intron|PRPF40B_ENST00000508736.1_3'UTR			Q8IYM0	F186B_HUMAN	family with sequence similarity 186, member B	398						protein complex				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GACCCTCGAGCGCACAGTCAT	0.547													T	49994230	C	T	49994230	3	4	364	1	0	0	0	0	1	0	0	0	5558	768	27	1	1504	1	FAM186B	12	49994230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1521	49994230	83857665	9534	33036											
PRPF40B	25766	broad.mit.edu	37	chr12	50027216	50027216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccacttgcagctgctcCtgtcccaatgtccctggaaa	8	10	7	16	0	0	0	0	0	0	0	4	1	4	1	5	1	3	3	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027216C>A	ENST00000261897.1	+	7	933	c.382C>A	c.(382-384)Ctg>Atg	p.L128M	PRPF40B_ENST00000380281.1_Missense_Mutation_p.L134M|PRPF40B_ENST00000548825.2_Missense_Mutation_p.L156M			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	134					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GCAGCTGCTCCTGTCCCAATG	0.542													A	50027216	C	A	50027216	3	1	364	1	0	0	0	0	1	0	0	0	12658	680	24	4	426	4	PRPF40B	12	50027216	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32986	50027216	83824679	9535	33037											
PRPF40B	25766	broad.mit.edu	37	chr12	50027255	50027255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagtacaagtcggacacaGgcaaaccttattactataac	17	8	7	9	1	0	1	0	0	0	1	1	2	0	2	1	2	4	2	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50027255G>T	ENST00000261897.1	+	7	972	c.421G>T	c.(421-423)Ggc>Tgc	p.G141C	PRPF40B_ENST00000380281.1_Missense_Mutation_p.G147C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.G169C			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	147	WW 2.				mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GTCGGACACAGGCAAACCTTA	0.547													T	50027255	G	T	50027255	3	4	364	1	0	0	0	0	1	0	0	0	12658	1000	35	4	465	4	PRPF40B	12	50027255	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39	50027255	83824640	9536	33038											
PRPF40B	25766	broad.mit.edu	37	chr12	50036069	50036069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaggaggcaCgcaggatgcggcgcagggaa	12	1	21	7	4	0	1	0	0	0	1	0	6	0	5	0	7	2	3	0	7	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50036069C>T	ENST00000261897.1	+	19	2382	c.1831C>T	c.(1831-1833)Cgc>Tgc	p.R611C	PRPF40B_ENST00000380281.1_Missense_Mutation_p.R624C|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R646C|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	624					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGAGGAGGCACGCAGGATGCG	0.637													T	50036069	C	T	50036069	3	4	364	1	0	0	0	0	1	0	0	0	12658	536	19	1	1944	1	PRPF40B	12	50036069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8814	50036069	83815826	9537	33039											
FMNL3	91010	broad.mit.edu	37	chr12	50050932	50050932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttctggctcactaggCgggagttcttcagggccctg	5	11	12	13	1	4	0	2	0	2	0	5	1	5	1	2	4	0	2	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50050932C>T	ENST00000335154.5	-	7	880	c.647G>A	c.(646-648)cGc>cAc	p.R216H	FMNL3_ENST00000352151.5_Missense_Mutation_p.R165H|FMNL3_ENST00000550488.1_Missense_Mutation_p.R216H|FMNL3_ENST00000293590.5_Missense_Mutation_p.R216H	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	216	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R216H(2)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTCACTAGGCGGGAGTTCTT	0.577													T	50050932	C	T	50050932	3	4	364	1	0	0	0	0	1	0	0	0	6002	768	27	1	2516	1	FMNL3	12	50050932	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14863	50050932	83800963	9538	33040											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189040	50189040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccctgacttgggtcaGtggggccaggtactaggggt	6	8	18	9	0	1	1	1	1	0	0	1	1	1	1	2	7	1	1	2	7	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50189040G>A	ENST00000335999.6	-	8	2804	c.2603C>T	c.(2602-2604)aCt>aTt	p.T868I		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	864	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						ACTTGGGTCAGTGGGGCCAGG	0.642													A	50189040	G	A	50189040	3	1	364	1	0	0	0	0	1	0	0	0	10300	1029	36	2	1425	2	NCKAP5L	12	50189040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138108	50189040	83662855	9539	33041											
NCKAP5L	57701	broad.mit.edu	37	chr12	50190545	50190545	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttagacagctgtgggggCgcctggtctggggaggatga	7	8	19	7	1	1	2	0	1	1	1	1	5	1	4	1	6	1	1	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50190545C>T	ENST00000335999.6	-	8	1299	c.1098G>A	c.(1096-1098)gcG>gcA	p.A366A		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	362	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GCTGTGGGGGCGCCTGGTCTG	0.657													T	50190545	C	T	50190545	2	4	364	1	0	0	0	0	0	0	0	1	10300	755	27	1		1	NCKAP5L	12	50190545	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1505	50190545	83661350	9540	33042											
NCKAP5L	57701	broad.mit.edu	37	chr12	50191178	50191178	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgctgctcccaacatacCttaggggagagatgatggca	11	8	12	10	0	0	2	0	1	0	1	1	4	1	3	2	3	5	4	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50191178C>T	ENST00000335999.6	-	8	667		c.e8-1			NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like											central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						CCCAACATACCTTAGGGGAGA	0.647													T	50191178	C	T	50191178	5	4	364	1	0	0	0	0	0	0	1	0	10300	695	24	2	3563	2	NCKAP5L	12	50191178	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	633	50191178	83660717	9541	33043											
BCDIN3D	144233	broad.mit.edu	37	chr12	50232614	50232614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagagaaccttccgggtcCtttgattcatgaagtccagg	10	11	10	10	1	2	3	2	2	0	1	5	4	5	3	4	2	1	0	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50232614C>A	ENST00000333924.4	-	2	460	c.419G>T	c.(418-420)aGg>aTg	p.R140M	BCDIN3D-AS1_ENST00000548872.1_RNA|BCDIN3D-AS1_ENST00000549124.1_RNA	NM_181708.2	NP_859059.1	Q7Z5W3	BN3D2_HUMAN	BCDIN3 domain containing	140	Bin3-type SAM.						methyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)|stomach(1)	9						CTTCCGGGTCCTTTGATTCAT	0.443											OREG0021805	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50232614	C	A	50232614	3	1	364	1	0	0	0	0	1	0	0	0	1362	681	24	4	463	4	BCDIN3D	12	50232614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41436	50232614	83619281	9542	33044											
AQP5	362	broad.mit.edu	37	chr12	50355889	50355889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgtcttctttggcctggGctcggccctcaagtggccgt	2	13	12	14	3	3	0	1	0	2	0	5	0	3	0	3	4	0	1	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50355889G>A	ENST00000293599.6	+	1	237	c.89G>A	c.(88-90)gGc>gAc	p.G30D	RP11-469H8.6_ENST00000550214.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA|RP11-469H8.6_ENST00000552379.1_RNA	NM_001651.2	NP_001642.1	P55064	AQP5_HUMAN	aquaporin 5	30					carbon dioxide transport|excretion|odontogenesis|pancreatic juice secretion	apical plasma membrane|integral to plasma membrane	protein binding|water channel activity			large_intestine(1)|lung(3)	4						TTTGGCCTGGGCTCGGCCCTC	0.662													A	50355889	G	A	50355889	3	1	364	1	0	0	0	0	1	0	0	0	832	1203	42	2	91	2	AQP5	12	50355889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123275	50355889	83496006	9543	33045											
RACGAP1	29127	broad.mit.edu	37	chr12	50400277	50400277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctctacatccacctgattAcgtgcatgcttcagcttaac	10	13	5	13	1	2	1	1	1	1	0	4	1	3	1	2	0	6	3	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50400277A>G	ENST00000434422.1	-	4	529	c.228T>C	c.(226-228)cgT>cgC	p.R76R	RACGAP1_ENST00000551016.1_Silent_p.R76R|RACGAP1_ENST00000312377.5_Silent_p.R76R|RACGAP1_ENST00000547905.1_Silent_p.R76R|RACGAP1_ENST00000427314.2_Silent_p.R76R|RACGAP1_ENST00000454520.2_Silent_p.R76R			Q9H0H5	RGAP1_HUMAN	Rac GTPase activating protein 1	76					blood coagulation|cytokinesis, actomyosin contractile ring assembly|cytokinesis, initiation of separation|embryo development|microtubule-based movement|neuroblast proliferation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|spermatogenesis|sulfate transport	acrosomal vesicle|cytosol|microtubule|midbody|nucleus|spindle	alpha-tubulin binding|beta-tubulin binding|gamma-tubulin binding|GTPase activator activity|metal ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(6)	14						CCACCTGATTACGTGCATGCT	0.483													G	50400277	A	G	50400277	2	3	364	1	0	0	0	0	0	0	0	1	13065	378	14	3		3	RACGAP1	12	50400277	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44388	50400277	83451618	9544	33046											
SMARCD1	6602	broad.mit.edu	37	chr12	50480112	50480112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggtccagcagcaggcgGtccaaaatcgaaaccacaag	15	3	11	12	2	0	0	0	0	0	0	3	1	2	0	3	3	4	3	3	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50480112G>A	ENST00000394963.4	+	2	744	c.346G>A	c.(346-348)Gtc>Atc	p.V116I	SMARCD1_ENST00000381513.4_Missense_Mutation_p.V116I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	116	Interaction with ESR1, NR1H4, NR3C1, PGR and SMARCA4.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						GCAGCAGGCGGTCCAAAATCG	0.612													A	50480112	G	A	50480112	3	1	364	1	0	0	0	0	1	0	0	0	14871	1261	44	2	352	2	SMARCD1	12	50480112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79835	50480112	83371783	9545	33047											
SMARCD1	6602	broad.mit.edu	37	chr12	50490635	50490635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttcgttcttcctttcagatCcatgagacaatagaaaccat	12	13	5	11	1	2	3	1	1	1	3	5	4	4	3	3	0	1	1	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50490635C>T	ENST00000394963.4	+	11	1670	c.1272C>T	c.(1270-1272)atC>atT	p.I424I	SMARCD1_ENST00000381513.4_Intron|SMARCD1_ENST00000548573.1_Silent_p.I222I	NM_003076.4	NP_003067.3	Q96GM5	SMRD1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1	424	Interaction with SMARCC1 and SMARCC2.|Necessary for GR/NR3C1-mediated remodeling and transcription from chromatin; required for GR/NR3C1 interaction with the BRG1/SMARCA4 complex in vivo.				chromatin-mediated maintenance of transcription|nervous system development|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	protein complex scaffold|transcription coactivator activity			NS(1)|breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	18						CCTTTCAGATCCATGAGACAA	0.458													T	50490635	C	T	50490635	2	4	364	1	0	0	0	0	0	0	0	1	14871	845	30	2		2	SMARCD1	12	50490635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10523	50490635	83361260	9546	33048											
LIMA1	51474	broad.mit.edu	37	chr12	50571708	50571708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctggtctctccaaaatCtcttcgttttcatttttgct	5	19	7	10	1	3	0	1	0	2	0	7	0	4	0	1	2	1	3	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50571708C>A	ENST00000547825.1	-	5	1782	c.513G>T	c.(511-513)gaG>gaT	p.E171D	LIMA1_ENST00000552909.1_Missense_Mutation_p.E312D|LIMA1_ENST00000341247.4_Missense_Mutation_p.E473D|LIMA1_ENST00000552491.1_Missense_Mutation_p.E170D|LIMA1_ENST00000394943.3_Missense_Mutation_p.E474D|LIMA1_ENST00000552823.1_Missense_Mutation_p.E313D|LIMA1_ENST00000552783.1_Missense_Mutation_p.E314D	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	473					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCTCCAAAATCTCTTCGTTTT	0.488													A	50571708	C	A	50571708	3	1	364	1	0	0	0	0	1	0	0	0	8856	912	32	4	864	4	LIMA1	12	50571708	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81073	50571708	83280187	9547	33049											
LIMA1	51474	broad.mit.edu	37	chr12	50589640	50589640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcttcggcaggggtggaacGgactgccaggctattctcat	8	10	13	10	2	2	0	1	0	2	0	4	2	2	2	1	6	2	2	1	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50589640G>A	ENST00000547825.1	-	2	1366	c.97C>T	c.(97-99)Cgt>Tgt	p.R33C	LIMA1_ENST00000552909.1_Missense_Mutation_p.R175C|LIMA1_ENST00000341247.4_Missense_Mutation_p.R335C|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552491.1_Missense_Mutation_p.R33C|LIMA1_ENST00000394943.3_Missense_Mutation_p.R335C|LIMA1_ENST00000552823.1_Missense_Mutation_p.R175C|LIMA1_ENST00000552783.1_Missense_Mutation_p.R175C	NM_001243775.1	NP_001230704.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	335					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						GGGGTGGAACGGACTGCCAGG	0.383													A	50589640	G	A	50589640	3	1	364	1	0	0	0	0	1	0	0	0	8856	1116	39	1	1295	1	LIMA1	12	50589640	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17932	50589640	83262255	9548	33050											
LARP4	113251	broad.mit.edu	37	chr12	50829360	50829361	+	Frame_Shift_Ins	INS	-	-	A																															gttgccaacatggaagaaatINSaaaaaagttgactacagacc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829360_50829361insA	ENST00000398473.2	+	5	600_601	c.488_489insA	c.(487-492)ataaaafs	p.IK163fs	LARP4_ENST00000518444.1_Frame_Shift_Ins_p.IK162fs|LARP4_ENST00000518561.1_Frame_Shift_Ins_p.IK93fs|LARP4_ENST00000293618.8_Frame_Shift_Ins_p.IK163fs|LARP4_ENST00000429001.3_Frame_Shift_Ins_p.IK169fs|LARP4_ENST00000347328.5_Frame_Shift_Ins_p.IK163fs|LARP4_ENST00000522085.1_Frame_Shift_Ins_p.IK163fs	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	163	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ATGGAAGAAATAAAAAAGTTGA	0.287													A	50829361	-	A	50829360	7	5	364	1	0	1	1	0	0	0	0	0	8689	1406	49	0	506	0	LARP4	12	50829360	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	239720	50829360	83022535	9549	33051											
LARP4	113251	broad.mit.edu	37	chr12	50829388	50829388	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgactacagaccctgatctAattcttgaagtgttaagatg	12	14	8	7	0	2	5	0	3	2	2	2	5	2	5	1	0	1	1	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50829388A>G	ENST00000398473.2	+	5	628	c.516A>G	c.(514-516)ctA>ctG	p.L172L	LARP4_ENST00000518444.1_Silent_p.L171L|LARP4_ENST00000293618.8_Silent_p.L172L|LARP4_ENST00000522085.1_Silent_p.L172L|LARP4_ENST00000429001.3_Silent_p.L178L|LARP4_ENST00000518561.1_Silent_p.L102L|LARP4_ENST00000347328.5_Silent_p.L172L	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	172	HTH La-type RNA-binding.						nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						ACCCTGATCTAATTCTTGAAG	0.294													G	50829388	A	G	50829388	2	3	364	1	0	0	0	0	0	0	0	1	8689	349	13	3		3	LARP4	12	50829388	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28	50829388	83022507	9550	33052											
LARP4	113251	broad.mit.edu	37	chr12	50867246	50867246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcctgcagatgagcagAcagaatgcacttctgcccag	11	7	11	12	0	1	4	0	1	1	3	1	4	1	4	2	0	5	3	2	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:50867246A>G	ENST00000398473.2	+	14	1706	c.1594A>G	c.(1594-1596)Aca>Gca	p.T532A	LARP4_ENST00000518444.1_Missense_Mutation_p.T531A|LARP4_ENST00000293618.8_Missense_Mutation_p.T461A|LARP4_ENST00000429001.3_Missense_Mutation_p.T538A|LARP4_ENST00000347328.5_Missense_Mutation_p.T461A	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	532							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGATGAGCAGACAGAATGCAC	0.383													G	50867246	A	G	50867246	3	3	364	1	0	0	0	0	1	0	0	0	8689	275	10	3	1652	3	LARP4	12	50867246	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	37858	50867246	82984649	9551	33053											
DIP2B	57609	broad.mit.edu	37	chr12	51089654	51089654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtagctttagtaaaatgtCgggacttgcactgggctatg	10	12	13	6	1	0	0	0	0	0	0	1	1	0	1	0	3	2	5	0	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51089654C>T	ENST00000301180.5	+	16	1871	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	613						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						AGTAAAATGTCGGGACTTGCA	0.398													T	51089654	C	T	51089654	3	4	364	1	0	0	0	0	1	0	0	0	4567	875	31	1	1899	1	DIP2B	12	51089654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222408	51089654	82762241	9552	33054											
DIP2B	57609	broad.mit.edu	37	chr12	51097980	51097980	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccattcatccgatcaGgattgctggggtttgtaggg	7	13	14	7	1	2	0	2	0	0	0	3	2	3	1	2	4	2	3	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51097980G>T	ENST00000301180.5	+	20	2417	c.2383G>T	c.(2383-2385)Gga>Tga	p.G795*		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	795						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CATCCGATCAGGATTGCTGGG	0.383													T	51097980	G	T	51097980	4	4	364	1	0	0	0	0	0	1	0	0	4567	1001	35	4	2461	4	DIP2B	12	51097980	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8326	51097980	82753915	9553	33055											
DIP2B	57609	broad.mit.edu	37	chr12	51126253	51126253	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaagctcttcaaagacatCgggctgtccccgcgggctgt	7	10	11	13	3	3	1	1	0	2	1	5	1	4	1	2	2	1	3	2	2	2	2	rs143164072		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51126253C>T	ENST00000301180.5	+	32	3949	c.3915C>T	c.(3913-3915)atC>atT	p.I1305I		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1305						nucleus	catalytic activity|transcription factor binding	p.I1305I(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						TCAAAGACATCGGGCTGTCCC	0.542													T	51126253	C	T	51126253	2	4	364	1	0	0	0	0	0	0	0	1	4567	874	31	1		1	DIP2B	12	51126253	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28273	51126253	82725642	9554	33056											
SLC11A2	4891	broad.mit.edu	37	chr12	51390746	51390746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctctggctgggtttcaCtgtaacatactacataccaa	10	12	8	11	0	2	0	1	0	1	0	2	0	2	0	1	3	4	4	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51390746C>T	ENST00000394904.3	-	9	821	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	SLC11A2_ENST00000547198.1_Missense_Mutation_p.V229M|SLC11A2_ENST00000547688.1_Missense_Mutation_p.V258M|SLC11A2_ENST00000546743.1_Missense_Mutation_p.V150M|SLC11A2_ENST00000541174.2_Missense_Mutation_p.V229M|SLC11A2_ENST00000545993.2_Missense_Mutation_p.V225M|SLC11A2_ENST00000262052.5_Missense_Mutation_p.V229M|SLC11A2_ENST00000262051.7_Missense_Mutation_p.V229M	NM_001174125.1	NP_001167596.1	P49281	NRAM2_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2	229					activation of caspase activity|cellular iron ion homeostasis|cellular response to oxidative stress|detection of oxygen|ferrous iron import|multicellular organismal iron ion homeostasis|response to hypoxia|response to iron ion	apical plasma membrane|basal part of cell|cell surface|cytoplasmic vesicle|early endosome|late endosome|late endosome membrane|lysosomal membrane|lysosome|nucleus|paraferritin complex|perinuclear region of cytoplasm|plasma membrane|recycling endosome|trans-Golgi network	cadmium ion transmembrane transporter activity|cobalt ion transmembrane transporter activity|copper ion transmembrane transporter activity|ferrous iron transmembrane transporter activity|lead ion transmembrane transporter activity|manganese ion transmembrane transporter activity|nickel ion transmembrane transporter activity|protein binding|solute:hydrogen symporter activity|vanadium ion transmembrane transporter activity|zinc ion transmembrane transporter activity			breast(2)|cervix(1)|endometrium(3)|kidney(16)|large_intestine(4)|lung(9)|upper_aerodigestive_tract(1)	36						CTGGGTTTCACTGTAACATAC	0.483													T	51390746	C	T	51390746	3	4	364	1	0	0	0	0	1	0	0	0	14475	565	20	2	1114	2	SLC11A2	12	51390746	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264493	51390746	82461149	9555	33057											
LETMD1	25875	broad.mit.edu	37	chr12	51447581	51447581	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgccaagacgtcaccaaGtgtcttttcctaggtattat	9	14	7	11	2	2	1	1	0	1	1	4	1	4	1	4	1	0	1	4	1	5	6	rs144819671		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51447581G>A	ENST00000418425.2	+	4	469	c.450G>A	c.(448-450)aaG>aaA	p.K150K	LETMD1_ENST00000552739.1_Intron|LETMD1_ENST00000548516.1_Intron|LETMD1_ENST00000262055.4_Silent_p.K137K|LETMD1_ENST00000550929.1_Silent_p.K81K|LETMD1_ENST00000547008.1_Intron|LETMD1_ENST00000380123.2_Intron	NM_001243689.1	NP_001230618.1	Q6P1Q0	LTMD1_HUMAN	LETM1 domain containing 1	137	LETM1.					integral to membrane|mitochondrial outer membrane	protein binding			central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(3)	16						ACGTCACCAAGTGTCTTTTCC	0.408													A	51447581	G	A	51447581	2	1	364	1	0	0	0	0	0	0	0	1	8795	1020	36	2		2	LETMD1	12	51447581	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56835	51447581	82404314	9556	33058											
CSRNP2	81566	broad.mit.edu	37	chr12	51467694	51467694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcctgggcaaactcaCagagtgtatagctccgtaca	10	10	9	12	1	1	1	1	0	0	1	3	1	3	1	3	1	3	5	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51467694C>T	ENST00000228515.1	-	3	620	c.323G>A	c.(322-324)tGt>tAt	p.C108Y		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	108					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						GGCAAACTCACAGAGTGTATA	0.537													T	51467694	C	T	51467694	3	4	364	1	0	0	0	0	1	0	0	0	3997	478	17	2	1320	2	CSRNP2	12	51467694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20113	51467694	82384201	9557	33059											
CELA1	1990	broad.mit.edu	37	chr12	51736376	51736376	+	Silent	SNP	G	G	A																															tacccggcagccacgttatcGctgttccagtatggatgcac																								rs141068541	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736376G>A	ENST00000293636.1	-	4	349	c.309C>T	c.(307-309)agC>agT	p.S103S		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CCACGTTATCGCTGTTCCAGT	0.577													A	51736376	G	A	51736376	2	1	364	1	0	0	0	0	0	0	0	1	3240	1078	38	1		1	CELA1	12	51736376	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268682	51736376	82115519	9558	33060	89	3									
CELA1	1990	broad.mit.edu	37	chr12	51736377	51736377	+	Missense_Mutation	SNP	C	C	T																															acccggcagccacgttatcgCtgttccagtatggatgcacc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736377C>T	ENST00000293636.1	-	4	348	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	103	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity	p.S103N(1)		NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						CACGTTATCGCTGTTCCAGTA	0.572													T	51736377	C	T	51736377	3	4	364	1	0	0	0	0	1	0	0	0	3240	797	28	2	488	2	CELA1	12	51736377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	51736377	82115518	9559	33061	89	3									
CELA1	1990	broad.mit.edu	37	chr12	51736384	51736384	+	Missense_Mutation	SNP	A	A	G																															agccacgttatcgctgttccAgtatggatgcaccacgatct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51736384A>G	ENST00000293636.1	-	4	341	c.301T>C	c.(301-303)Tgg>Cgg	p.W101R		NM_001971.5	NP_001962.3	Q9UNI1	CELA1_HUMAN	chymotrypsin-like elastase family, member 1	101	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	15						TCGCTGTTCCAGTATGGATGC	0.582													G	51736384	A	G	51736384	3	3	364	1	0	0	0	0	1	0	0	0	3240	188	7	3	495	3	CELA1	12	51736384	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7	51736384	82115511	9560	33062	89	3									
GALNT6	11226	broad.mit.edu	37	chr12	51758007	51758007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttgcctcggctatggactCtgcccctctggacgggcttg	4	11	13	13	2	2	0	0	0	2	0	3	2	2	2	3	4	2	3	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51758007C>T	ENST00000543196.2	-	5	1152	c.947G>A	c.(946-948)aGa>aAa	p.R316K	GALNT6_ENST00000356317.3_Missense_Mutation_p.R316K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	316					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTATGGACTCTGCCCCTCTG	0.557													T	51758007	C	T	51758007	3	4	364	1	0	0	0	0	1	0	0	0	6271	913	32	2	949	2	GALNT6	12	51758007	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21623	51758007	82093888	9561	33063											
GALNT6	11226	broad.mit.edu	37	chr12	51759335	51759335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacctgcagctgcttcacGtactgctccagcttctcctt	6	12	6	17	1	2	0	1	0	1	0	4	0	3	0	4	0	6	6	4	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51759335G>A	ENST00000543196.2	-	4	898	c.693C>T	c.(691-693)taC>taT	p.Y231Y	GALNT6_ENST00000356317.3_Silent_p.Y231Y			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	231	Catalytic subdomain A.				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GCTGCTTCACGTACTGCTCCA	0.632													A	51759335	G	A	51759335	2	1	364	1	0	0	0	0	0	0	0	1	6271	1140	40	1		1	GALNT6	12	51759335	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1328	51759335	82092560	9562	33064											
GALNT6	11226	broad.mit.edu	37	chr12	51773181	51773181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcttccttttcctgggtctCcaggggggtccacttgctct	2	16	10	13	0	3	0	0	0	3	0	7	0	6	0	4	4	1	1	4	4	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51773181C>T	ENST00000543196.2	-	2	590	c.385G>A	c.(385-387)Gag>Aag	p.E129K	GALNT6_ENST00000356317.3_Missense_Mutation_p.E129K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	129					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTGGGTCTCCAGGGGGGTC	0.587													T	51773181	C	T	51773181	3	4	364	1	0	0	0	0	1	0	0	0	6271	864	30	2	1523	2	GALNT6	12	51773181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13846	51773181	82078714	9563	33065											
SLC4A8	9498	broad.mit.edu	37	chr12	51853776	51853776	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaattcctactggggccgaGgcctccaatgtcctggttgg	8	10	12	11	1	0	0	0	0	0	0	3	1	3	0	5	5	1	1	5	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51853776G>T	ENST00000453097.2	+	8	1114	c.897G>T	c.(895-897)gaG>gaT	p.E299D	SLC4A8_ENST00000514353.3_Missense_Mutation_p.E246D|SLC4A8_ENST00000535225.2_Missense_Mutation_p.E246D|SLC4A8_ENST00000358657.3_Missense_Mutation_p.E326D|SLC4A8_ENST00000394856.1_Missense_Mutation_p.E246D	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	299					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		CTGGGGCCGAGGCCTCCAATG	0.458													T	51853776	G	T	51853776	3	4	364	1	0	0	0	0	1	0	0	0	14753	991	35	4	927	4	SLC4A8	12	51853776	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80595	51853776	81998119	9564	33066											
SLC4A8	9498	broad.mit.edu	37	chr12	51863479	51863479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatgcactcagcttacaGtgtttggcttcctttctgtt	6	16	9	10	1	2	1	1	0	1	1	3	2	3	1	1	1	3	5	1	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:51863479G>T	ENST00000453097.2	+	12	1648	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	SLC4A8_ENST00000514353.3_Missense_Mutation_p.Q424H|SLC4A8_ENST00000535225.2_Missense_Mutation_p.Q424H|SLC4A8_ENST00000546663.1_3'UTR|SLC4A8_ENST00000358657.3_Missense_Mutation_p.Q504H|SLC4A8_ENST00000394856.1_Missense_Mutation_p.Q424H	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	477					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCAGCTTACAGTGTTTGGCTT	0.542													T	51863479	G	T	51863479	3	4	364	1	0	0	0	0	1	0	0	0	14753	1020	36	4	1477	4	SLC4A8	12	51863479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9703	51863479	81988416	9565	33067											
SCN8A	6334	broad.mit.edu	37	chr12	52100384	52100384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggaactctctgaaggagAggagaaaggggatcccgaga	16	4	15	6	1	1	4	0	1	1	3	3	9	2	6	1	5	1	0	1	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52100384A>G	ENST00000354534.6	+	11	1698	c.1520A>G	c.(1519-1521)gAg>gGg	p.E507G	SCN8A_ENST00000545061.1_Missense_Mutation_p.E507G|SCN8A_ENST00000550891.1_Missense_Mutation_p.E507G	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TCTGAAGGAGAGGAGAAAGGG	0.468													G	52100384	A	G	52100384	3	3	364	1	0	0	0	0	1	0	0	0	14017	304	11	3	1558	3	SCN8A	12	52100384	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	236905	52100384	81751511	9566	33068											
SCN8A	6334	broad.mit.edu	37	chr12	52159663	52159663	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgaactccctcgctggcAtatgcatgactttttccatt	7	15	7	12	1	0	2	0	2	0	0	3	2	2	2	2	1	2	3	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52159663A>T	ENST00000354534.6	+	16	2931	c.2753A>T	c.(2752-2754)cAt>cTt	p.H918L	SCN8A_ENST00000545061.1_Missense_Mutation_p.H918L|SCN8A_ENST00000550891.1_Missense_Mutation_p.H918L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	CCTCGCTGGCATATGCATGAC	0.502													T	52159663	A	T	52159663	3	4	364	1	0	0	0	0	1	0	0	0	14017	217	8	5	2811	5	SCN8A	12	52159663	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	59279	52159663	81692232	9567	33069											
SCN8A	6334	broad.mit.edu	37	chr12	52180523	52180523	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgtgaaaagcttatGgaggggaacaatacagagat	17	8	12	4	0	0	3	0	2	0	1	0	6	0	5	0	3	3	1	0	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52180523G>T	ENST00000354534.6	+	22	4318	c.4140G>T	c.(4138-4140)atG>atT	p.M1380I	SCN8A_ENST00000545061.1_Missense_Mutation_p.M1339I	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	AAAAGCTTATGGAGGGGAACA	0.393													T	52180523	G	T	52180523	3	4	364	1	0	0	0	0	1	0	0	0	14017	1348	47	4	4222	4	SCN8A	12	52180523	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20860	52180523	81671372	9568	33070											
SCN8A	6334	broad.mit.edu	37	chr12	52183122	52183122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtacatctattttgtcatcTtcatcatcttcggctccttc	6	19	4	12	1	6	0	3	0	3	0	9	0	7	0	1	1	1	2	1	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52183122T>C	ENST00000354534.6	+	24	4517	c.4339T>C	c.(4339-4341)Ttc>Ctc	p.F1447L	SCN8A_ENST00000545061.1_Missense_Mutation_p.F1406L	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	TTTTGTCATCTTCATCATCTT	0.403													C	52183122	T	C	52183122	3	2	364	1	0	0	0	0	1	0	0	0	14017	1609	56	3	4429	3	SCN8A	12	52183122	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2599	52183122	81668773	9569	33071											
ANKRD33	341405	broad.mit.edu	37	chr12	52283195	52283195	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgctcaactactatgTgggcctggacctggaacgcc	7	10	10	14	1	2	0	1	0	1	0	3	2	2	2	4	3	4	1	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52283195T>C	ENST00000301190.6	+	4	793	c.566T>C	c.(565-567)gTg>gCg	p.V189A	ANKRD33_ENST00000547119.1_3'UTR|ANKRD33_ENST00000340970.4_Missense_Mutation_p.V54A|ANKRD33_ENST00000538991.1_5'UTR	NM_001130015.1|NM_182608.3	NP_001123487.1|NP_872414.3	Q7Z3H0	ANR33_HUMAN	ankyrin repeat domain 33	54										endometrium(2)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.0969)		AACTACTATGTGGGCCTGGAC	0.627													C	52283195	T	C	52283195	3	2	364	1	0	0	0	0	1	0	0	0	661	1696	59	3	580	3	ANKRD33	12	52283195	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100073	52283195	81568700	9570	33072											
ACVRL1	94	broad.mit.edu	37	chr12	52307480	52307480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacggaggcaggagaagcagCgtggcctgcacagcgagctg	10	3	18	10	3	0	1	0	0	0	1	0	5	0	2	1	4	5	4	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52307480C>T	ENST00000550683.1	+	3	594	c.493C>T	c.(493-495)Cgt>Tgt	p.R165C	ACVRL1_ENST00000388922.4_Missense_Mutation_p.R151C|ACVRL1_ENST00000419526.2_Intron	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	151					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GGAGAAGCAGCGTGGCCTGCA	0.667													T	52307480	C	T	52307480	3	4	364	1	0	0	0	0	1	0	0	0	225	768	27	1	461	1	ACVRL1	12	52307480	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24285	52307480	81544415	9571	33073											
ACVRL1	94	broad.mit.edu	37	chr12	52314611	52314611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctgcccgactcaccgcGctgcggatcaagaagacact	9	6	9	17	4	3	2	2	0	1	2	3	4	3	3	3	1	2	1	3	1	2	0	rs142343727		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52314611G>A	ENST00000550683.1	+	9	1589	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	ACVRL1_ENST00000388922.4_Silent_p.A482A|ACVRL1_ENST00000419526.2_Silent_p.A308A	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	482					blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	GACTCACCGCGCTGCGGATCA	0.557													A	52314611	G	A	52314611	2	1	364	1	0	0	0	0	0	0	0	1	225	1074	38	1		1	ACVRL1	12	52314611	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7131	52314611	81537284	9572	33074											
ACVR1B	91	broad.mit.edu	37	chr12	52369229	52369229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgagctcggaggacctgcGcaacacccactgctgctaca	9	6	10	16	2	0	1	0	1	0	0	1	3	0	3	3	2	6	4	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52369229G>A	ENST00000257963.4	+	2	349	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACVR1B_ENST00000542485.1_Missense_Mutation_p.R39H|ACVR1B_ENST00000415850.2_Missense_Mutation_p.R91H|ACVR1B_ENST00000541224.1_Missense_Mutation_p.R91H|ACVR1B_ENST00000426655.2_Missense_Mutation_p.R91H	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	91					G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	GAGGACCTGCGCAACACCCAC	0.597													A	52369229	G	A	52369229	3	1	364	1	0	0	0	0	1	0	0	0	221	1087	38	1	278	1	ACVR1B	12	52369229	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54618	52369229	81482666	9573	33075											
GRASP	160622	broad.mit.edu	37	chr12	52404840	52404840	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagacttatggccttcaccaCcgggaggagcagcgtgtgga	9	7	14	11	2	1	1	1	0	0	1	1	4	1	4	3	4	2	1	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52404840C>T	ENST00000293662.4	+	4	449	c.369C>T	c.(367-369)caC>caT	p.H123H	GRASP_ENST00000552049.1_5'UTR|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	123	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GCCTTCACCACCGGGAGGAGC	0.617													T	52404840	C	T	52404840	2	4	364	1	0	0	0	0	0	0	0	1	6810	506	18	2		2	GRASP	12	52404840	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35611	52404840	81447055	9574	33076											
GRASP	160622	broad.mit.edu	37	chr12	52407473	52407473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccttgtctgcctggcagggGacaccatcgccagcgtcaat	7	8	11	15	2	2	0	1	0	1	0	3	1	2	1	4	3	2	1	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52407473G>A	ENST00000293662.4	+	5	537	c.457G>A	c.(457-459)Gac>Aac	p.D153N	GRASP_ENST00000380039.2_Missense_Mutation_p.D10N|GRASP_ENST00000552049.1_Missense_Mutation_p.D10N|GRASP_ENST00000552963.1_3'UTR	NM_181711.2	NP_859062.1	Q7Z6J2	GRASP_HUMAN	GRP1 (general receptor for phosphoinositides 1)-associated scaffold protein	153	PDZ.					cell junction|perinuclear region of cytoplasm|postsynaptic membrane				central_nervous_system(1)|large_intestine(1)|lung(1)|skin(2)	5				BRCA - Breast invasive adenocarcinoma(357;0.0967)		CCTGGCAGGGGACACCATCGC	0.537													A	52407473	G	A	52407473	3	1	364	1	0	0	0	0	1	0	0	0	6810	1174	41	2	475	2	GRASP	12	52407473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2633	52407473	81444422	9575	33077											
C12orf44	60673	broad.mit.edu	37	chr12	52470759	52470759	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagaaggtgggtgagaaaCtctgcgagaagatcatcaac	14	6	15	6	1	3	4	2	1	1	4	3	7	3	4	0	3	3	0	0	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470759C>A	ENST00000336854.4	+	4	920	c.442C>A	c.(442-444)Ctc>Atc	p.L148I	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	148					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		GGGTGAGAAACTCTGCGAGAA	0.567													A	52470759	C	A	52470759	3	1	364	1	0	0	0	0	1	0	0	0	1703	565	20	4	448	4	C12orf44	12	52470759	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63286	52470759	81381136	9576	33078											
C12orf44	60673	broad.mit.edu	37	chr12	52470943	52470943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagtcaccaccaccatgcGcaggctcatcaaagacaccc	12	5	6	18	1	4	1	4	0	0	1	4	1	4	1	4	1	1	2	4	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52470943G>A	ENST00000336854.4	+	4	1104	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RP11-1100L3.7_ENST00000550301.1_RNA	NM_001098673.1|NM_021934.4	NP_001092143.1|NP_068753.2	Q9BSB4	ATGA1_HUMAN	chromosome 12 open reading frame 44	209					autophagic vacuole assembly	pre-autophagosomal structure	identical protein binding|protein complex binding			endometrium(1)|lung(2)|ovary(1)	4				BRCA - Breast invasive adenocarcinoma(357;0.0978)		ACCACCATGCGCAGGCTCATC	0.567													A	52470943	G	A	52470943	3	1	364	1	0	0	0	0	1	0	0	0	1703	1087	38	1	632	1	C12orf44	12	52470943	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	52470943	81380952	9577	33079											
KRT80	144501	broad.mit.edu	37	chr12	52566080	52566080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtacttgcgcagctgccgCgccatgtcctgcttggcctg	3	11	13	14	3	0	0	0	0	0	0	1	0	1	0	4	2	5	4	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52566080C>T	ENST00000313234.5	-	7	1177	c.1080G>A	c.(1078-1080)gcG>gcA	p.A360A	KRT80_ENST00000394815.2_Silent_p.A360A	NM_001081492.1	NP_001074961.1	Q6KB66	K2C80_HUMAN	keratin 80	360	Coil 2.|Rod.					keratin filament	structural molecule activity			endometrium(2)|large_intestine(2)|lung(1)	5				BRCA - Breast invasive adenocarcinoma(357;0.108)		GCAGCTGCCGCGCCATGTCCT	0.642													T	52566080	C	T	52566080	2	4	364	1	0	0	0	0	0	0	0	1	8552	755	27	1		1	KRT80	12	52566080	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95137	52566080	81285815	9578	33080											
KRT7	3855	broad.mit.edu	37	chr12	52635320	52635320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtccatggacaacagtcGctccctggacctggacggca	8	7	12	14	2	0	0	0	0	0	0	3	3	2	3	3	4	1	3	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52635320G>A	ENST00000331817.5	+	5	941	c.758G>A	c.(757-759)cGc>cAc	p.R253H		NM_005556.3	NP_005547.3	P08729	K2C7_HUMAN	keratin 7	253	Linker 12.|Rod.				cytoskeleton organization|DNA replication|interphase|interspecies interaction between organisms|regulation of translation	Golgi apparatus|keratin filament|nucleus	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(357;0.105)		GACAACAGTCGCTCCCTGGAC	0.587													A	52635320	G	A	52635320	3	1	364	1	0	0	0	0	1	0	0	0	8541	1087	38	1	776	1	KRT7	12	52635320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69240	52635320	81216575	9579	33081											
KRT81	3887	broad.mit.edu	37	chr12	52681784	52681784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccttgctgcggtaccagGactcggcctcggcccggctg	4	8	13	16	4	1	0	1	0	0	0	3	1	1	1	4	5	3	3	4	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52681784G>T	ENST00000327741.5	-	5	952	c.884C>A	c.(883-885)tCc>tAc	p.S295Y	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	295	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GCGGTACCAGGACTCGGCCTC	0.557													T	52681784	G	T	52681784	3	4	364	1	0	0	0	0	1	0	0	0	8553	1174	41	4	653	4	KRT81	12	52681784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46464	52681784	81170111	9580	33082											
KRT81	3887	broad.mit.edu	37	chr12	52682229	52682229	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacttgcggaggtaggcGcagtccacatcctggaaagg	9	8	14	10	2	1	1	0	1	1	0	3	3	3	3	2	5	1	2	2	5	2	2	rs140435760		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52682229G>A	ENST00000327741.5	-	4	719	c.651C>T	c.(649-651)tgC>tgT	p.C217C	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	217	Coil 1B.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		GGAGGTAGGCGCAGTCCACAT	0.622													A	52682229	G	A	52682229	2	1	364	1	0	0	0	0	0	0	0	1	8553	1079	38	1		1	KRT81	12	52682229	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	445	52682229	81169666	9581	33083											
KRT86	3892	broad.mit.edu	37	chr12	52699090	52699090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaagctggacaacagccggGacctgaacatggactgcatc	12	6	11	12	1	1	1	1	1	0	0	2	4	1	4	2	3	5	2	2	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52699090G>A	ENST00000293525.5	+	5	854	c.802G>A	c.(802-804)Gac>Aac	p.D268N	KRT86_ENST00000423955.2_Missense_Mutation_p.D268N|KRT86_ENST00000544024.1_Missense_Mutation_p.D268N	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	268	Linker 12.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACAGCCGGGACCTGAACAT	0.572													A	52699090	G	A	52699090	3	1	364	1	0	0	0	0	1	0	0	0	8558	1174	41	2	820	2	KRT86	12	52699090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16861	52699090	81152805	9582	33084											
KRT85	3891	broad.mit.edu	37	chr12	52758805	52758805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctctgaggccagcctcccGctgtcggcctccacgcactc	5	7	10	19	3	1	1	0	1	1	0	5	1	3	1	5	2	2	3	5	2	0	0	rs138930362		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52758805G>A	ENST00000257901.3	-	2	645	c.570C>T	c.(568-570)agC>agT	p.S190S		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	190	Coil 1B.|Rod.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCAGCCTCCCGCTGTCGGCCT	0.622													A	52758805	G	A	52758805	2	1	364	1	0	0	0	0	0	0	0	1	8557	1078	38	1		1	KRT85	12	52758805	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59715	52758805	81093090	9583	33085											
KRT84	3890	broad.mit.edu	37	chr12	52775247	52775247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatcaaggttcaggtcacgGctgttgtccatcttcacaat	9	12	8	12	1	5	0	4	0	1	0	6	0	6	0	2	3	0	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52775247G>A	ENST00000257951.3	-	5	1041	c.975C>T	c.(973-975)agC>agT	p.S325S	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	325	Linker 12.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGGTCACGGCTGTTGTCCA	0.557													A	52775247	G	A	52775247	2	1	364	1	0	0	0	0	0	0	0	1	8556	1194	42	2		2	KRT84	12	52775247	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16442	52775247	81076648	9584	33086											
KRT84	3890	broad.mit.edu	37	chr12	52779070	52779070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcccagaccaacacagctGtcagccctaggccccagacc	12	3	8	18	0	1	2	1	0	0	2	1	2	1	2	6	1	4	1	6	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779070G>A	ENST00000257951.3	-	1	366	c.300C>T	c.(298-300)gaC>gaT	p.D100D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	100	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CAACACAGCTGTCAGCCCTAG	0.597													A	52779070	G	A	52779070	2	1	364	1	0	0	0	0	0	0	0	1	8556	1368	48	2		2	KRT84	12	52779070	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3823	52779070	81072825	9585	33087											
KRT84	3890	broad.mit.edu	37	chr12	52779359	52779359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagctgactcggtaggagCggcaagacatgatggcttcc	10	7	14	10	2	0	4	0	2	0	2	2	5	1	5	1	4	2	4	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52779359C>T	ENST00000257951.3	-	1	77	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	4	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCGGTAGGAGCGGCAAGACAT	0.572													T	52779359	C	T	52779359	3	4	364	1	0	0	0	0	1	0	0	0	8556	768	27	1	1827	1	KRT84	12	52779359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	289	52779359	81072536	9586	33088											
KRT82	3888	broad.mit.edu	37	chr12	52789941	52789941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctcctccagccctgccaGcttgcacttggcatcattga	7	10	8	16	0	1	1	1	1	0	0	3	1	3	1	5	1	5	3	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52789941G>A	ENST00000257974.2	-	7	1221	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	382	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCCCTGCCAGCTTGCACTTG	0.597													A	52789941	G	A	52789941	2	1	364	1	0	0	0	0	0	0	0	1	8554	962	34	2		2	KRT82	12	52789941	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10582	52789941	81061954	9587	33089											
KRT75	9119	broad.mit.edu	37	chr12	52818536	52818536	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagagtagaggtgaccAcagctgccgggaagagagga	14	4	17	6	1	0	4	0	1	0	3	0	8	0	7	2	4	2	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52818536A>G	ENST00000252245.5	-	9	1641	c.1421T>C	c.(1420-1422)gTg>gCg	p.V474A	RP11-1020M18.10_ENST00000548135.1_RNA	NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	474	Tail.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		AGAGGTGACCACAGCTGCCGG	0.617													G	52818536	A	G	52818536	3	3	364	1	0	0	0	0	1	0	0	0	8546	159	6	3	238	3	KRT75	12	52818536	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28595	52818536	81033359	9588	33090											
KRT75	9119	broad.mit.edu	37	chr12	52824343	52824343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttggtctggtaccaggaCtcagcctcggcccggctgcg	5	8	13	15	3	2	0	1	0	1	0	3	1	2	1	4	5	3	2	4	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52824343C>T	ENST00000252245.5	-	5	1237	c.1017G>A	c.(1015-1017)gaG>gaA	p.E339E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	339	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GGTACCAGGACTCAGCCTCGG	0.542													T	52824343	C	T	52824343	2	4	364	1	0	0	0	0	0	0	0	1	8546	564	20	2		2	KRT75	12	52824343	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5807	52824343	81027552	9589	33091											
KRT6B	3854	broad.mit.edu	37	chr12	52844333	52844333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttctgcctcacagtCttggtgccctgctcctgcag	4	12	10	15	0	3	0	1	0	2	0	5	0	5	0	4	2	4	3	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52844333C>A	ENST00000252252.3	-	2	659	c.612G>T	c.(610-612)aaG>aaT	p.K204N		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	204	Linker 1.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		GCCTCACAGTCTTGGTGCCCT	0.577													A	52844333	C	A	52844333	3	1	364	1	0	0	0	0	1	0	0	0	8539	912	32	4	1114	4	KRT6B	12	52844333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19990	52844333	81007562	9590	33092											
KRT6C	286887	broad.mit.edu	37	chr12	52867487	52867487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaccccggcggctgctgCtgtggctcctgatggtggtg	4	10	16	11	2	0	2	0	2	0	0	1	2	1	2	3	5	3	4	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52867487C>T	ENST00000252250.6	-	1	82	c.35G>A	c.(34-36)aGc>aAc	p.S12N		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	12	Head.				cytoskeleton organization	keratin filament	structural molecule activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		GCGGCTGCTGCTGTGGCTCCT	0.657													T	52867487	C	T	52867487	3	4	364	1	0	0	0	0	1	0	0	0	8540	797	28	2	1695	2	KRT6C	12	52867487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23154	52867487	80984408	9591	33093											
KRT6A	3853	broad.mit.edu	37	chr12	52884480	52884480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatggacagcaccacaGatgtgtctgagatgtgggtc	9	10	13	9	0	1	2	0	1	1	2	3	4	2	3	2	2	1	1	2	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52884480G>T	ENST00000330722.6	-	5	1018	c.950C>A	c.(949-951)tCt>tAt	p.S317Y		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	317	Linker 12.|Rod.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		CAGCACCACAGATGTGTCTGA	0.512													T	52884480	G	T	52884480	3	4	364	1	0	0	0	0	1	0	0	0	8538	942	33	4	764	4	KRT6A	12	52884480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16993	52884480	80967415	9592	33094											
KRT5	3852	broad.mit.edu	37	chr12	52912800	52912800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcggccccgttcccccaCgatgctgtccagctgcctcc	4	7	10	20	3	0	0	0	0	0	0	3	1	3	0	7	2	3	3	7	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52912800C>T	ENST00000252242.4	-	2	1090	c.700G>A	c.(700-702)Gtg>Atg	p.V234M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	234	Coil 1B.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CGTTCCCCCACGATGCTGTCC	0.597													T	52912800	C	T	52912800	3	4	364	1	0	0	0	0	1	0	0	0	8537	536	19	1	1104	1	KRT5	12	52912800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28320	52912800	80939095	9593	33095											
KRT5	3852	broad.mit.edu	37	chr12	52913879	52913879	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcctcttggagccccccaGgttgtagaggctccggctgc	5	10	12	14	1	1	1	0	0	1	1	3	2	3	2	5	4	2	4	5	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52913879G>T	ENST00000252242.4	-	1	592	c.202C>A	c.(202-204)Ctg>Atg	p.L68M		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	68	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		GAGCCCCCCAGGTTGTAGAGG	0.647													T	52913879	G	T	52913879	3	4	364	1	0	0	0	0	1	0	0	0	8537	991	35	4	1606	4	KRT5	12	52913879	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1079	52913879	80938016	9594	33096											
KRT5	3852	broad.mit.edu	37	chr12	52914038	52914038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggcggtgctgaagctacGactgcccccgctccggaagg	8	5	15	13	4	0	2	0	1	0	1	1	4	1	3	3	4	4	3	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52914038G>A	ENST00000252242.4	-	1	433	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	15	Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGCTACGACTGCCCCCG	0.652													A	52914038	G	A	52914038	3	1	364	1	0	0	0	0	1	0	0	0	8537	1058	37	1	1765	1	KRT5	12	52914038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159	52914038	80937857	9595	33097											
KRT71	112802	broad.mit.edu	37	chr12	52943138	52943138	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatttcctcctcatacCtgtgggaatggcgagggctc	6	13	12	10	1	1	1	1	1	0	0	4	3	3	2	3	3	1	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:52943138C>A	ENST00000267119.5	-	3	726		c.e3-1			NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71								structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CTCCTCATACCTGTGGGAATG	0.552													A	52943138	C	A	52943138	5	1	364	1	0	0	0	0	0	0	1	0	8542	695	24	4	943	4	KRT71	12	52943138	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29100	52943138	80908757	9596	33098											
KRT73	319101	broad.mit.edu	37	chr12	53005048	53005048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgagacgggtcagctctgaGatctcatttttggtgtgttt	7	16	12	6	1	3	2	2	2	2	2	4	4	3	2	0	2	1	2	0	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53005048G>A	ENST00000305748.3	-	6	1084	c.1050C>T	c.(1048-1050)atC>atT	p.I350I	RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	350	Coil 2.|Rod.					keratin filament	structural molecule activity	p.I350I(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCTCTGAGATCTCATTTT	0.527													A	53005048	G	A	53005048	2	1	364	1	0	0	0	0	0	0	0	1	8544	932	33	2		2	KRT73	12	53005048	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61910	53005048	80846847	9597	33099											
KRT2	3849	broad.mit.edu	37	chr12	53040720	53040720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacgctgctcggcatctgCgatggcatcttgcacattct	6	11	9	15	3	3	0	0	0	3	0	4	1	3	0	1	2	3	5	1	2	0	2	rs148103071	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53040720C>T	ENST00000309680.3	-	7	1294	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	425	Coil 2.|Rod.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		TCGGCATCTGCGATGGCATCT	0.572													T	53040720	C	T	53040720	3	4	364	1	0	0	0	0	1	0	0	0	8515	768	27	1	658	1	KRT2	12	53040720	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35672	53040720	80811175	9598	33100											
KRT1	3848	broad.mit.edu	37	chr12	53074048	53074048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagctgctggtggtcctgcGctggtagttgatgatcccag	5	11	16	9	1	0	2	0	2	0	0	2	3	2	3	2	4	3	5	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53074048G>A	ENST00000252244.3	-	1	143	c.85C>T	c.(85-87)Cgc>Tgc	p.R29C		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	29	Gly/Phe/Ser-rich.|Head.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						GTGGTCCTGCGCTGGTAGTTG	0.557													A	53074048	G	A	53074048	3	1	364	1	0	0	0	0	1	0	0	0	8505	1087	38	1	1885	1	KRT1	12	53074048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33328	53074048	80777847	9599	33101											
KRT77	374454	broad.mit.edu	37	chr12	53086375	53086375	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacgcatcctggagggcCtgctcgcctctctcctcagc	4	9	10	18	2	2	0	1	0	1	0	6	1	4	1	5	2	3	2	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53086375C>A	ENST00000341809.3	-	7	1285	c.1257G>T	c.(1255-1257)caG>caT	p.Q419H	KRT77_ENST00000537195.1_Missense_Mutation_p.Q186H	NM_175078.2	NP_778253.2	Q7Z794	K2C1B_HUMAN	keratin 77	419	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(2)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCTGGAGGGCCTGCTCGCCTC	0.582													A	53086375	C	A	53086375	3	1	364	1	0	0	0	0	1	0	0	0	8548	680	24	4	491	4	KRT77	12	53086375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12327	53086375	80765520	9600	33102											
KRT79	338785	broad.mit.edu	37	chr12	53218122	53218122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacattggtgttagacaCgtgggtctgcacttggctca	8	11	11	11	1	2	1	1	0	1	1	2	1	2	1	1	3	1	3	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53218122C>T	ENST00000330553.5	-	5	914	c.880G>A	c.(880-882)Gtg>Atg	p.V294M		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	294	Linker 12.|Rod.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGTTAGACACGTGGGTCTGC	0.582													T	53218122	C	T	53218122	3	4	364	1	0	0	0	0	1	0	0	0	8550	536	19	1	747	1	KRT79	12	53218122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131747	53218122	80633773	9601	33103											
KRT79	338785	broad.mit.edu	37	chr12	53224077	53224077	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgatttcatcctcgtacCtgttacacatgggagactca	9	14	8	10	1	2	2	2	1	0	1	4	3	3	2	2	1	2	3	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53224077C>A	ENST00000330553.5	-	3	733		c.e3-1			NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79							keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCGTACCTGTTACACAT	0.567													A	53224077	C	A	53224077	5	1	364	1	0	0	0	0	0	0	1	0	8550	695	24	4	937	4	KRT79	12	53224077	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5955	53224077	80627818	9602	33104											
KRT78	196374	broad.mit.edu	37	chr12	53242353	53242353	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaatgaaggaagcaaacTggttgttgagggttctgatc	11	12	13	5	0	2	3	1	3	1	0	3	4	2	4	0	3	2	4	0	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242353T>C	ENST00000304620.4	-	1	425	c.362A>G	c.(361-363)cAg>cGg	p.Q121R		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	121	Coil 1A.|Rod.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGAAGCAAACTGGTTGTTGAG	0.537													C	53242353	T	C	53242353	3	2	364	1	0	0	0	0	1	0	0	0	8549	1580	55	3	1236	3	KRT78	12	53242353	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18276	53242353	80609542	9603	33105											
KRT78	196374	broad.mit.edu	37	chr12	53242560	53242560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccccaggtactcccaCgagagccttccaggcacccc	8	5	8	20	1	0	2	0	1	0	1	2	3	2	2	7	2	2	2	7	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53242560C>T	ENST00000304620.4	-	1	218	c.155G>A	c.(154-156)cGt>cAt	p.R52H		NM_173352.2	NP_775487.2	Q8N1N4	K2C78_HUMAN	keratin 78	52	Gly-rich.|Head.					keratin filament	protein binding|structural molecule activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	18						GGTACTCCCACGAGAGCCTTC	0.672													T	53242560	C	T	53242560	3	4	364	1	0	0	0	0	1	0	0	0	8549	536	19	1	1443	1	KRT78	12	53242560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207	53242560	80609335	9604	33106											
KRT8	3856	broad.mit.edu	37	chr12	53292268	53292268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagccgctggtggtcttcGtatgaatactcatgttctgc	7	14	10	10	2	3	1	1	1	2	0	4	1	3	1	1	2	3	3	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53292268G>A	ENST00000552551.1	-	8	1670	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	KRT8_ENST00000546897.1_Missense_Mutation_p.T413M|KRT8_ENST00000552150.1_Missense_Mutation_p.T441M|KRT8_ENST00000293308.6_Missense_Mutation_p.T413M			P05787	K2C8_HUMAN	keratin 8	413	Tail.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGTCTTCGTATGAATACT	0.622													A	53292268	G	A	53292268	3	1	364	1	0	0	0	0	1	0	0	0	8551	1145	40	1	221	1	KRT8	12	53292268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49708	53292268	80559627	9605	33107											
KRT8	3856	broad.mit.edu	37	chr12	53293758	53293758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtactgtgccttgacctcaGcaatgatgctgtccatgtcc	7	12	9	13	1	1	2	1	2	0	0	3	2	3	2	4	0	4	3	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53293758G>T	ENST00000552551.1	-	6	1214	c.782C>A	c.(781-783)gCt>gAt	p.A261D	KRT8_ENST00000546897.1_Missense_Mutation_p.A261D|KRT8_ENST00000552150.1_Missense_Mutation_p.A289D|KRT8_ENST00000293308.6_Missense_Mutation_p.A261D			P05787	K2C8_HUMAN	keratin 8	261	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTTGACCTCAGCAATGATGCT	0.592													T	53293758	G	T	53293758	3	4	364	1	0	0	0	0	1	0	0	0	8551	971	34	4	685	4	KRT8	12	53293758	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1490	53293758	80558137	9606	33108											
KRT18	3875	broad.mit.edu	37	chr12	53344642	53344642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagctggagacagagatCgaggctctcaaggaggagct	11	6	15	9	1	1	2	1	0	1	2	3	7	1	4	0	4	3	4	0	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53344642C>T	ENST00000550600.1	+	4	663	c.609C>T	c.(607-609)atC>atT	p.I203I	KRT18_ENST00000388837.2_Silent_p.I203I|KRT18_ENST00000388835.3_Silent_p.I203I			P05783	K1C18_HUMAN	keratin 18	203	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						AGACAGAGATCGAGGCTCTCA	0.572													T	53344642	C	T	53344642	2	4	364	1	0	0	0	0	0	0	0	1	8513	874	31	1		1	KRT18	12	53344642	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50884	53344642	80507253	9607	33109											
TENC1	23371	broad.mit.edu	37	chr12	53448969	53448969	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccctccccctttatttcaGctcttcaacctttcagagaa	9	13	4	15	0	4	1	3	0	1	1	5	2	5	1	4	0	3	1	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53448969G>A	ENST00000314250.6	+	8	812		c.e8-1		TENC1_ENST00000549700.1_Splice_Site|TENC1_ENST00000379902.3_Splice_Site|TENC1_ENST00000546602.1_Splice_Site|TENC1_ENST00000314276.3_Splice_Site|TENC1_ENST00000451358.1_Splice_Site|TENC1_ENST00000552570.1_Splice_Site	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)						intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTTATTTCAGCTCTTCAACC	0.488													A	53448969	G	A	53448969	5	1	364	1	0	0	0	0	0	0	1	0	15858	985	34	2	661	2	TENC1	12	53448969	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104327	53448969	80402926	9608	33110											
TENC1	23371	broad.mit.edu	37	chr12	53457553	53457553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggtttcgtggccaagaagCcgggaagcccctgggagaat	9	8	15	9	2	0	2	0	0	0	2	1	4	0	3	4	4	2	1	4	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53457553C>T	ENST00000314250.6	+	29	4407	c.4117C>T	c.(4117-4119)Ccg>Tcg	p.P1373S	TENC1_ENST00000549700.1_Missense_Mutation_p.P1308S|TENC1_ENST00000379902.3_Missense_Mutation_p.P1249S|TENC1_ENST00000546602.1_Missense_Mutation_p.P1276S|TENC1_ENST00000314276.3_Missense_Mutation_p.P1383S|TENC1_ENST00000451358.1_Missense_Mutation_p.P1363S|TENC1_ENST00000552570.1_Missense_Mutation_p.P1371S	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1373					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						GGCCAAGAAGCCGGGAAGCCC	0.537													T	53457553	C	T	53457553	3	4	364	1	0	0	0	0	1	0	0	0	15858	739	26	2	4340	2	TENC1	12	53457553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8584	53457553	80394342	9609	33111											
SPRYD3	84926	broad.mit.edu	37	chr12	53460161	53460161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcttcctcttcctcttcCtcctcttcctcttccccttc	0	19	0	22	0	5	0	0	0	5	0	13	0	12	0	8	0	0	0	8	0	0	6	rs139156601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53460161C>A	ENST00000301463.4	-	10	1217	c.1131G>T	c.(1129-1131)gaG>gaT	p.E377D	SPRYD3_ENST00000547837.1_Missense_Mutation_p.E414D	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	377	Glu-rich.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						cttcctcttcctcctcttcct	0.567											OREG0021856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	53460161	C	A	53460161	3	1	364	1	0	0	0	0	1	0	0	0	15205	680	24	4	205	4	SPRYD3	12	53460161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2608	53460161	80391734	9610	33112											
CSAD	51380	broad.mit.edu	37	chr12	53567532	53567532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctctgctcaggagagccgGaggcagggtgcacaggtagc	8	6	16	11	1	2	1	1	0	1	1	3	3	2	2	1	5	4	4	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53567532G>A	ENST00000267085.4	-	3	288	c.55C>T	c.(55-57)Ccg>Tcg	p.P19S	CSAD_ENST00000453446.2_Intron|CSAD_ENST00000444623.1_5'UTR|CSAD_ENST00000542115.1_5'UTR|CSAD_ENST00000379843.3_5'UTR|CSAD_ENST00000379846.1_Intron	NM_001244706.1|NM_015989.4	NP_001231635.1|NP_057073.4	Q9Y600	CSAD_HUMAN	cysteine sulfinic acid decarboxylase	221					carboxylic acid metabolic process		pyridoxal phosphate binding|sulfinoalanine decarboxylase activity			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(4)	14					L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGGAGAGCCGGAGGCAGGGTG	0.507													A	53567532	G	A	53567532	3	1	364	1	0	0	0	0	1	0	0	0	3956	1174	41	2	1567	2	CSAD	12	53567532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107371	53567532	80284363	9611	33113											
ITGB7	3695	broad.mit.edu	37	chr12	53585794	53585794	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaatggcctgcgtgtggTctgctccctctgtgaacaag	7	10	12	12	1	2	1	0	1	2	0	3	1	3	1	2	2	3	2	2	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53585794T>G	ENST00000267082.5	-	15	2396	c.2165A>C	c.(2164-2166)gAc>gCc	p.D722A	ITGB7_ENST00000550743.2_Missense_Mutation_p.D574A|ITGB7_ENST00000338737.4_Missense_Mutation_p.D574A|ITGB7_ENST00000422257.3_Missense_Mutation_p.D722A	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	722					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCGTGTGGTCTGCTCCCTC	0.597													G	53585794	T	G	53585794	3	3	364	1	0	0	0	0	1	0	0	0	7958	1667	58	5	239	5	ITGB7	12	53585794	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18262	53585794	80266101	9612	33114											
ITGB7	3695	broad.mit.edu	37	chr12	53587619	53587619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctctgagaagccaagggCccggagcctcaggagatggg	9	5	15	12	1	2	2	1	1	1	2	3	5	3	3	4	4	2	0	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53587619C>T	ENST00000267082.5	-	11	1606	c.1375G>A	c.(1375-1377)Gcc>Acc	p.A459T	ITGB7_ENST00000550743.2_Missense_Mutation_p.A459T|ITGB7_ENST00000338737.4_Missense_Mutation_p.A459T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A459T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	459					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						AAGCCAAGGGCCCGGAGCCTC	0.582													T	53587619	C	T	53587619	3	4	364	1	0	0	0	0	1	0	0	0	7958	739	26	2	1045	2	ITGB7	12	53587619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1825	53587619	80264276	9613	33115											
ITGB7	3695	broad.mit.edu	37	chr12	53589427	53589427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctggtagacaggcagtgCggcactggtgacagcaaaga	12	5	14	10	1	0	3	0	1	0	2	0	3	0	3	1	4	2	4	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53589427C>T	ENST00000267082.5	-	8	1285	c.1054G>A	c.(1054-1056)Gca>Aca	p.A352T	ITGB7_ENST00000550743.2_Missense_Mutation_p.A352T|ITGB7_ENST00000338737.4_Missense_Mutation_p.A352T|ITGB7_ENST00000422257.3_Missense_Mutation_p.A352T	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	352	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ACAGGCAGTGCGGCACTGGTG	0.567													T	53589427	C	T	53589427	3	4	364	1	0	0	0	0	1	0	0	0	7958	768	27	1	1378	1	ITGB7	12	53589427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1808	53589427	80262468	9614	33116											
ESPL1	9700	broad.mit.edu	37	chr12	53682456	53682456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccttggtcctcggctcCggctcccctcagcccccgta	4	8	10	19	3	1	0	1	0	0	0	5	1	4	1	7	4	1	3	7	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53682456C>T	ENST00000257934.4	+	20	4772	c.4681C>T	c.(4681-4683)Cgg>Tgg	p.R1561W	ESPL1_ENST00000552462.1_Missense_Mutation_p.R1561W	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1561				R -> Q (in Ref. 1; AAR18247 and 2; BAA11482).	apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCTCGGCTCCGGCTCCCCTC	0.587													T	53682456	C	T	53682456	3	4	364	1	0	0	0	0	1	0	0	0	5294	643	23	1	4755	1	ESPL1	12	53682456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93029	53682456	80169439	9615	33117											
ESPL1	9700	broad.mit.edu	37	chr12	53684233	53684233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatggtggacagggcggctgGcactggaccacaggatggag	10	5	18	8	1	0	0	0	0	0	0	0	4	0	4	1	8	0	2	1	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53684233G>A	ENST00000257934.4	+	24	5435	c.5344G>A	c.(5344-5346)Gca>Aca	p.A1782T	ESPL1_ENST00000552462.1_Missense_Mutation_p.A1782T	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1782					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						AGGGCGGCTGGCACTGGACCA	0.577													A	53684233	G	A	53684233	3	1	364	1	0	0	0	0	1	0	0	0	5294	1203	42	2	5434	2	ESPL1	12	53684233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1777	53684233	80167662	9616	33118											
ESPL1	9700	broad.mit.edu	37	chr12	53685848	53685848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgccctccttccgcttcctActcagctactccatcatcaa	7	12	3	19	1	3	0	3	0	0	0	7	0	7	0	5	0	4	2	5	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53685848A>G	ENST00000257934.4	+	27	5863	c.5772A>G	c.(5770-5772)ctA>ctG	p.L1924L	ESPL1_ENST00000552462.1_Silent_p.L1924L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1924					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						TCCGCTTCCTACTCAGCTACT	0.572													G	53685848	A	G	53685848	2	3	364	1	0	0	0	0	0	0	0	1	5294	378	14	3		3	ESPL1	12	53685848	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1615	53685848	80166047	9617	33119											
ESPL1	9700	broad.mit.edu	37	chr12	53686377	53686377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagctggctggagaggaGtggttggggaggtgccaaga	9	7	21	4	0	0	3	0	1	0	2	0	6	0	5	1	7	2	3	1	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53686377G>T	ENST00000257934.4	+	29	6023	c.5932G>T	c.(5932-5934)Gtg>Ttg	p.V1978L	ESPL1_ENST00000552462.1_Missense_Mutation_p.V1978L	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	1978					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						CTGGAGAGGAGTGGTTGGGGA	0.537													T	53686377	G	T	53686377	3	4	364	1	0	0	0	0	1	0	0	0	5294	1029	36	4	6042	4	ESPL1	12	53686377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	529	53686377	80165518	9618	33120											
ESPL1	9700	broad.mit.edu	37	chr12	53687208	53687208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctccccgactcaagtatCttattggggctgcacctata	10	11	8	12	1	2	0	1	0	1	0	3	1	3	0	3	2	2	4	3	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687208C>A	ENST00000257934.4	+	31	6404	c.6313C>A	c.(6313-6315)Ctt>Att	p.L2105I	ESPL1_ENST00000552462.1_Missense_Mutation_p.L2105I	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2105					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ACTCAAGTATCTTATTGGGGC	0.552													A	53687208	C	A	53687208	3	1	364	1	0	0	0	0	1	0	0	0	5294	913	32	4	6431	4	ESPL1	12	53687208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	831	53687208	80164687	9619	33121											
ESPL1	9700	broad.mit.edu	37	chr12	53687221	53687221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtatcttattggggctgCacctatagcctatggcttgc	8	13	10	10	0	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53687221C>T	ENST00000257934.4	+	31	6417	c.6326C>T	c.(6325-6327)gCa>gTa	p.A2109V	ESPL1_ENST00000552462.1_Missense_Mutation_p.A2109V	NM_012291.4	NP_036423.4	Q14674	ESPL1_HUMAN	extra spindle pole bodies homolog 1 (S. cerevisiae)	2109					apoptosis|cytokinesis|establishment of mitotic spindle localization|mitotic sister chromatid segregation|negative regulation of sister chromatid cohesion|positive regulation of mitotic metaphase/anaphase transition|proteolysis	centrosome|nucleus	cysteine-type peptidase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(10)|large_intestine(12)|lung(21)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(8)	70						ATTGGGGCTGCACCTATAGCC	0.542													T	53687221	C	T	53687221	3	4	364	1	0	0	0	0	1	0	0	0	5294	710	25	2	6444	2	ESPL1	12	53687221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13	53687221	80164674	9620	33122											
C12orf10	60314	broad.mit.edu	37	chr12	53700890	53700890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgccttgagcatggcccGtgccaccttggcccagcgct	4	8	14	15	2	0	1	0	1	0	0	0	1	0	1	5	3	4	2	5	3	0	2	rs138116397	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53700890G>A	ENST00000267103.5	+	7	1140	c.1088G>A	c.(1087-1089)cGt>cAt	p.R363H	C12orf10_ENST00000548632.1_Missense_Mutation_p.R288H|C12orf10_ENST00000549488.1_Missense_Mutation_p.R200H	NM_021640.3	NP_067653	Q86UA3	Q86UA3_HUMAN	chromosome 12 open reading frame 10	363										cervix(1)|endometrium(3)|kidney(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	20						AGCATGGCCCGTGCCACCTTG	0.567													A	53700890	G	A	53700890	3	1	364	1	0	0	0	0	1	0	0	0	1687	1145	40	1	1114	1	C12orf10	12	53700890	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13669	53700890	80151005	9621	33123											
AMHR2	269	broad.mit.edu	37	chr12	53819521	53819521	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggccgggcagctgcaaGgaaaactggttgccatcaag	10	8	14	9	1	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53819521G>T	ENST00000257863.4	+	6	750	c.670G>T	c.(670-672)Gga>Tga	p.G224*	AMHR2_ENST00000379791.3_Nonsense_Mutation_p.G224*|AMHR2_ENST00000550311.1_Nonsense_Mutation_p.G224*	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	224	Protein kinase.				Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	GCAGCTGCAAGGAAAACTGGT	0.577													T	53819521	G	T	53819521	4	4	364	1	0	0	0	0	0	1	0	0	573	1001	35	4	692	4	AMHR2	12	53819521	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118631	53819521	80032374	9622	33124											
PCBP2	5094	broad.mit.edu	37	chr12	53861626	53861626	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagaggtgaaaggctattgGggtaatgattaaaaaaaaaa	19	8	11	3	0	0	3	0	2	0	1	0	3	0	3	1	4	0	2	1	4	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53861626G>A	ENST00000603815.1	+	12	1187	c.837G>A	c.(835-837)tgG>tgA	p.W279*	PCBP2_ENST00000549863.1_Splice_Site_p.W234*|PCBP2_ENST00000447282.1_Splice_Site_p.W248*|PCBP2_ENST00000359282.5_Splice_Site_p.W244*|PCBP2_ENST00000439930.3_Splice_Site_p.W279*|PCBP2_ENST00000437231.1_Intron|PCBP2_ENST00000359462.5_Splice_Site_p.W279*|PCBP2_ENST00000548933.1_Splice_Site_p.W248*|PCBP2_ENST00000546463.1_Splice_Site_p.W275*|PCBP2_ENST00000552819.1_Intron|PCBP2_ENST00000552296.2_Splice_Site_p.W275*|PCBP2_ENST00000455667.3_Intron	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	279					innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						AAGGCTATTGGGGTAATGATT	0.378													A	53861626	G	A	53861626	5	1	364	1	0	0	0	0	0	0	1	0	11577	1246	43	2	879	2	PCBP2	12	53861626	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42105	53861626	79990269	9623	33125											
PCBP2	5094	broad.mit.edu	37	chr12	53865452	53865452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcataatcgggcgtcaaggcGccaaaatcaatgagatccgt	13	7	11	10	4	2	1	2	1	0	1	4	2	3	1	2	2	0	1	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865452G>A	ENST00000603815.1	+	14	1272	c.922G>A	c.(922-924)Gcc>Acc	p.A308T	PCBP2_ENST00000549863.1_Missense_Mutation_p.A264T|PCBP2_ENST00000447282.1_Missense_Mutation_p.A278T|PCBP2_ENST00000359282.5_Missense_Mutation_p.A274T|PCBP2_ENST00000439930.3_Missense_Mutation_p.A308T|PCBP2_ENST00000437231.1_Missense_Mutation_p.A261T|PCBP2_ENST00000359462.5_Missense_Mutation_p.A309T|PCBP2_ENST00000548933.1_Missense_Mutation_p.A278T|PCBP2_ENST00000546463.1_Missense_Mutation_p.A305T|PCBP2_ENST00000552819.1_Missense_Mutation_p.A265T|PCBP2_ENST00000552296.2_Missense_Mutation_p.A304T|PCBP2_ENST00000455667.3_Missense_Mutation_p.A261T	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	308	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						GCGTCAAGGCGCCAAAATCAA	0.493													A	53865452	G	A	53865452	3	1	364	1	0	0	0	0	1	0	0	0	11577	1087	38	1	975	1	PCBP2	12	53865452	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3826	53865452	79986443	9624	33126											
PCBP2	5094	broad.mit.edu	37	chr12	53865487	53865487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccgtcagatgtctggggcGcagatcaaaattgcgaaccc	11	8	11	11	3	3	2	2	0	1	2	4	3	4	2	2	2	2	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53865487G>A	ENST00000603815.1	+	14	1307	c.957G>A	c.(955-957)gcG>gcA	p.A319A	PCBP2_ENST00000549863.1_Silent_p.A275A|PCBP2_ENST00000447282.1_Silent_p.A289A|PCBP2_ENST00000359282.5_Silent_p.A285A|PCBP2_ENST00000439930.3_Silent_p.A319A|PCBP2_ENST00000437231.1_Silent_p.A272A|PCBP2_ENST00000359462.5_Silent_p.A320A|PCBP2_ENST00000548933.1_Silent_p.A289A|PCBP2_ENST00000546463.1_Silent_p.A316A|PCBP2_ENST00000552819.1_Silent_p.A276A|PCBP2_ENST00000552296.2_Silent_p.A315A|PCBP2_ENST00000455667.3_Silent_p.A272A	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	319	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						TGTCTGGGGCGCAGATCAAAA	0.473													A	53865487	G	A	53865487	2	1	364	1	0	0	0	0	0	0	0	1	11577	1074	38	1		1	PCBP2	12	53865487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35	53865487	79986408	9625	33127											
MAP3K12	7786	broad.mit.edu	37	chr12	53878923	53878923	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcttcccacaccccaGataatggctgaggaatctac	10	10	8	13	0	1	2	0	1	1	1	2	3	2	3	3	2	2	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53878923G>T	ENST00000267079.2	-	7	1182	c.957C>A	c.(955-957)atC>atA	p.I319I	MAP3K12_ENST00000547035.1_Silent_p.I352I|MAP3K12_ENST00000547488.1_Silent_p.I352I	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	319	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						CCACACCCCAGATAATGGCTG	0.552													T	53878923	G	T	53878923	2	4	364	1	0	0	0	0	0	0	0	1	9321	932	33	4		4	MAP3K12	12	53878923	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13436	53878923	79972972	9626	33128											
MAP3K12	7786	broad.mit.edu	37	chr12	53879183	53879183	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctgcaaaggacatctTggtgctcttgtcactcagct	7	13	9	12	0	4	0	2	0	2	0	5	1	5	1	1	2	3	3	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53879183T>C	ENST00000267079.2	-	6	1024	c.799A>G	c.(799-801)Aag>Gag	p.K267E	MAP3K12_ENST00000547035.1_Missense_Mutation_p.K300E|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K300E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	267	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AAGGACATCTTGGTGCTCTTG	0.507													C	53879183	T	C	53879183	3	2	364	1	0	0	0	0	1	0	0	0	9321	1821	63	3	1820	3	MAP3K12	12	53879183	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	260	53879183	79972712	9627	33129											
TARBP2	6895	broad.mit.edu	37	chr12	53899497	53899497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcacctgggattctctacGaaattcagtaggagagaaga	13	10	11	7	1	2	2	1	0	1	2	3	6	2	4	1	2	2	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:53899497G>A	ENST00000266987.2	+	8	1289	c.806G>A	c.(805-807)cGa>cAa	p.R269Q	TARBP2_ENST00000552857.1_Silent_p.T135T|TARBP2_ENST00000394357.2_Missense_Mutation_p.R248Q|TARBP2_ENST00000456234.2_Missense_Mutation_p.R248Q	NM_134323.1	NP_599150.1	Q15633	TRBP2_HUMAN	TAR (HIV-1) RNA binding protein 2	269	Sufficient for interaction with DICER1.				miRNA loading onto RISC involved in gene silencing by miRNA|negative regulation of defense response to virus by host|negative regulation of protein kinase activity|positive regulation of viral genome replication|pre-miRNA processing|production of siRNA involved in RNA interference|regulation of transcription from RNA polymerase II promoter|regulation of translation|regulation of viral transcription|targeting of mRNA for destruction involved in RNA interference	cytosol|nucleus|perinuclear region of cytoplasm|RNA-induced silencing complex	double-stranded RNA binding|protein homodimerization activity|siRNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(3)	10						GATTCTCTACGAAATTCAGTA	0.602													A	53899497	G	A	53899497	3	1	364	1	0	0	0	0	1	0	0	0	15653	1058	37	1	836	1	TARBP2	12	53899497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20314	53899497	79952398	9628	33130											
ATP5G2	517	broad.mit.edu	37	chr12	54062936	54062936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaacttatcttacctggCataaccaatgatgaggctcc	11	11	7	12	0	1	2	0	2	1	0	3	2	3	2	4	2	3	2	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54062936C>T	ENST00000338662.5	-	4	1560	c.355G>A	c.(355-357)Gcc>Acc	p.A119T	ATP5G2_ENST00000549164.1_Missense_Mutation_p.A103T|ATP5G2_ENST00000550241.1_5'UTR|ATP5G2_ENST00000394349.3_Missense_Mutation_p.A160T|ATP5G2_ENST00000602871.1_Missense_Mutation_p.A103T	NM_001002031.2	NP_001002031.1	Q06055	AT5G2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit C2 (subunit 9)	103					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport	integral to membrane|mitochondrial proton-transporting ATP synthase complex|proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity|lipid binding			kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	6						TCTTACCTGGCATAACCAATG	0.498													T	54062936	C	T	54062936	3	4	364	1	0	0	0	0	1	0	0	0	1159	710	25	2	126	2	ATP5G2	12	54062936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163439	54062936	79788959	9629	33131											
CALCOCO1	57658	broad.mit.edu	37	chr12	54115881	54115881	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctcgagctcctgcactcgGctcctcagctctgtcacctg	4	11	8	18	2	4	0	2	0	2	0	8	1	6	0	3	1	3	4	3	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54115881G>A	ENST00000548263.1	-	5	585	c.537C>T	c.(535-537)agC>agT	p.S179S	CALCOCO1_ENST00000430117.2_Silent_p.S146S|CALCOCO1_ENST00000262059.4_Silent_p.S179S|CALCOCO1_ENST00000550804.1_Silent_p.S179S			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	179	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CCTGCACTCGGCTCCTCAGCT	0.602													A	54115881	G	A	54115881	2	1	364	1	0	0	0	0	0	0	0	1	2603	1194	42	2		2	CALCOCO1	12	54115881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52945	54115881	79736014	9630	33132											
CALCOCO1	57658	broad.mit.edu	37	chr12	54118439	54118439	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcccttgtaccttggaactgGacactggtgtgaatggggga	8	11	14	8	0	0	1	0	1	0	0	1	4	1	4	2	5	2	1	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54118439G>A	ENST00000548263.1	-	3	297	c.249C>T	c.(247-249)gtC>gtT	p.V83V	CALCOCO1_ENST00000430117.2_Silent_p.V83V|CALCOCO1_ENST00000262059.4_Silent_p.V83V|CALCOCO1_ENST00000547885.1_5'UTR|CALCOCO1_ENST00000550804.1_Silent_p.V83V			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	83	N-terminal AD (CTNNB1 binding site) (By similarity).				steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						CTTGGAACTGGACACTGGTGT	0.488													A	54118439	G	A	54118439	2	1	364	1	0	0	0	0	0	0	0	1	2603	1161	41	2		2	CALCOCO1	12	54118439	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2558	54118439	79733456	9631	33133											
HOXC13	3229	broad.mit.edu	37	chr12	54338866	54338866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacactaaggtgcagctgaaGgagctagagaaggaatacgc	15	6	13	7	1	0	2	0	1	0	1	0	5	0	4	0	3	5	3	0	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54338866G>T	ENST00000243056.3	+	2	975	c.819G>T	c.(817-819)aaG>aaT	p.K273N		NM_017410.2	NP_059106.2	P31276	HXC13_HUMAN	homeobox C13	273						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|skin(1)	3						TGCAGCTGAAGGAGCTAGAGA	0.607			T	NUP98	AML								T	54338866	G	T	54338866	3	4	364	1	0	0	0	0	1	0	0	0	7367	991	35	4	825	4	HOXC13	12	54338866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	220427	54338866	79513029	9632	33134											
HOXC9	3225	broad.mit.edu	37	chr12	54396215	54396215	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtttggccctccaggCaaccccgtggccaactggat	6	10	11	14	1	0	0	0	0	0	0	1	1	1	1	5	4	2	2	5	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54396215C>T	ENST00000303450.4	+	2	610	c.540C>T	c.(538-540)agC>agT	p.S180S	HOXC9_ENST00000504557.1_3'UTR|RP11-834C11.12_ENST00000513209.1_Intron|HOXC9_ENST00000508190.1_Splice_Site_p.S180S	NM_006897.1	NP_008828.1	P31274	HXC9_HUMAN	homeobox C9	180					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14						GCCCTCCAGGCAACCCCGTGG	0.582													T	54396215	C	T	54396215	5	4	364	1	0	0	0	0	0	0	1	0	7372	724	25	2	546	2	HOXC9	12	54396215	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57349	54396215	79455680	9633	33135											
HOXC5	3222	broad.mit.edu	37	chr12	54427291	54427291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcagacagggcagcccGccggactgagccagccaccg	9	1	15	16	4	0	2	0	1	0	1	0	3	0	3	5	3	3	2	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54427291G>A	ENST00000312492.2	+	1	655	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RP11-834C11.14_ENST00000512206.1_RNA|RP11-834C11.12_ENST00000513209.1_Intron|HOXC4_ENST00000303406.4_Intron	NM_018953.2	NP_061826.1	Q00444	HXC5_HUMAN	homeobox C5	129					regulation of transcription from RNA polymerase II promoter	cell junction|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(2)|urinary_tract(1)	12						AGGGCAGCCCGCCGGACTGAG	0.622													A	54427291	G	A	54427291	3	1	364	1	0	0	0	0	1	0	0	0	7369	1087	38	1	387	1	HOXC5	12	54427291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31076	54427291	79424604	9634	33136											
GPR84	53831	broad.mit.edu	37	chr12	54756608	54756608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccggggagcctggactctgGcatccagaatgttgagcagc	8	7	14	12	1	1	2	0	1	1	1	2	4	2	4	3	4	3	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756608G>A	ENST00000551809.1	-	1	1663	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.A343V|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	343						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CTGGACTCTGGCATCCAGAAT	0.537													A	54756608	G	A	54756608	3	1	364	1	0	0	0	0	1	0	0	0	6768	1203	42	2	166	2	GPR84	12	54756608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329317	54756608	79095287	9635	33137											
GPR84	53831	broad.mit.edu	37	chr12	54756722	54756722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaatccggagctcttCtggctcctttaattggctgg	8	13	11	9	1	2	2	0	1	2	1	4	3	4	3	2	4	1	3	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54756722C>A	ENST00000551809.1	-	1	1549	c.914G>T	c.(913-915)aGa>aTa	p.R305I	RP11-753H16.5_ENST00000552785.1_RNA|GPR84_ENST00000267015.3_Missense_Mutation_p.R305I|RP11-753H16.3_ENST00000550474.1_RNA			Q9NQS5	GPR84_HUMAN	G protein-coupled receptor 84	305						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|kidney(2)|large_intestine(6)|lung(5)|skin(1)|urinary_tract(1)	18						CGGAGCTCTTCTGGCTCCTTT	0.507													A	54756722	C	A	54756722	3	1	364	1	0	0	0	0	1	0	0	0	6768	913	32	4	280	4	GPR84	12	54756722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114	54756722	79095173	9636	33138											
ZNF385A	25946	broad.mit.edu	37	chr12	54765377	54765377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcaaggaagccggggCtggagtccccccttcaccct	7	5	12	17	1	1	0	1	0	0	0	2	2	2	2	6	5	1	2	6	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54765377C>T	ENST00000546970.1	-	6	773	c.484G>A	c.(484-486)Gcc>Acc	p.A162T	RP11-753H16.5_ENST00000552785.1_RNA|ZNF385A_ENST00000338010.5_Missense_Mutation_p.A182T|ZNF385A_ENST00000394313.2_Missense_Mutation_p.A162T|ZNF385A_ENST00000551109.1_Missense_Mutation_p.A162T|ZNF385A_ENST00000552382.1_5'UTR|ZNF385A_ENST00000551771.1_Intron|ZNF385A_ENST00000352268.6_Intron|RP11-753H16.3_ENST00000550474.1_RNA			Q96PM9	Z385A_HUMAN	zinc finger protein 385A	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|urinary_tract(1)	15						GAAGCCGGGGCTGGAGTCCCC	0.627													T	54765377	C	T	54765377	3	4	364	1	0	0	0	0	1	0	0	0	17977	797	28	2	632	2	ZNF385A	12	54765377	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8655	54765377	79086518	9637	33139											
ITGA5	3678	broad.mit.edu	37	chr12	54795851	54795851	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctctggttcacggcaaaGtagtcacagctcaggctgga	9	8	13	11	2	4	0	3	0	1	0	4	1	4	1	0	5	1	6	0	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54795851G>T	ENST00000293379.4	-	21	2421	c.2160C>A	c.(2158-2160)taC>taA	p.Y720*	RP11-753H16.3_ENST00000550474.1_RNA|RP11-753H16.5_ENST00000552785.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	720					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						TCACGGCAAAGTAGTCACAGC	0.572													T	54795851	G	T	54795851	4	4	364	1	0	0	0	0	0	1	0	0	7937	1024	36	4	1029	4	ITGA5	12	54795851	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30474	54795851	79056044	9638	33140											
GTSF1	121355	broad.mit.edu	37	chr12	54858868	54858868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttctgcacttgataaGatgataaggaaacctgcaag	14	11	8	8	0	1	3	0	2	1	1	1	4	1	4	2	1	4	2	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54858868G>T	ENST00000552397.1	-	3	996	c.100C>A	c.(100-102)Ctt>Att	p.L34I	GTSF1_ENST00000305879.5_Missense_Mutation_p.L34I|RP11-753H16.3_ENST00000550474.1_RNA|GTSF1_ENST00000552395.1_Intron|RP11-753H16.5_ENST00000552785.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	34							metal ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				CACTTGATAAGATGATAAGGA	0.398													T	54858868	G	T	54858868	3	4	364	1	0	0	0	0	1	0	0	0	6941	942	33	4	427	4	GTSF1	12	54858868	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63017	54858868	78993027	9639	33141											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917615	54917615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcctttctagcatggaCaagctacacctaaacttgac	12	13	5	11	0	1	1	0	1	1	0	2	2	2	2	2	1	4	2	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54917615C>T	ENST00000293373.6	+	20	2110	c.2031C>T	c.(2029-2031)gaC>gaT	p.D677D	NCKAP1L_ENST00000545638.2_Silent_p.D627D	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	677					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						CTAGCATGGACAAGCTACACC	0.458													T	54917615	C	T	54917615	2	4	364	1	0	0	0	0	0	0	0	1	10298	477	17	2		2	NCKAP1L	12	54917615	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58747	54917615	78934280	9640	33142											
PDE1B	5153	broad.mit.edu	37	chr12	54966424	54966424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagtttcctggatgccttgGagacaggctatgggaagtac	9	11	14	7	0	0	2	0	1	0	1	1	5	1	4	2	4	2	3	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:54966424G>A	ENST00000243052.3	+	7	1070	c.634G>A	c.(634-636)Gag>Aag	p.E212K	PDE1B_ENST00000394277.3_3'UTR|PDE1B_ENST00000538346.1_Missense_Mutation_p.E171K|PDE1B_ENST00000550620.1_Missense_Mutation_p.E192K	NM_000924.3	NP_000915.1	Q01064	PDE1B_HUMAN	phosphodiesterase 1B, calmodulin-dependent	212	Catalytic (By similarity).				activation of phospholipase C activity|apoptosis|nerve growth factor receptor signaling pathway|platelet activation	cytosol|nucleus	3',5'-cyclic-AMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(4)	31						GGATGCCTTGGAGACAGGCTA	0.498													A	54966424	G	A	54966424	3	1	364	1	0	0	0	0	1	0	0	0	11710	1175	41	2	713	2	PDE1B	12	54966424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48809	54966424	78885471	9641	33143											
NEUROD4	58158	broad.mit.edu	37	chr12	55420664	55420664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcctggagactggccaGacacctgaagggaaaggctt	12	6	14	9	0	0	3	0	1	0	2	1	6	1	4	3	4	0	1	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55420664G>T	ENST00000242994.3	+	2	819	c.441G>T	c.(439-441)caG>caT	p.Q147H		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	147					amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						AGACTGGCCAGACACCTGAAG	0.502													T	55420664	G	T	55420664	3	4	364	1	0	0	0	0	1	0	0	0	10426	933	33	4	443	4	NEUROD4	12	55420664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	454240	55420664	78431231	9642	33144											
OR6C74	254783	broad.mit.edu	37	chr12	55641583	55641583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttctgtgcagccaacaCtgtagatcatttcttctgtg	8	16	8	9	0	4	2	1	1	3	1	4	2	4	2	1	0	3	2	1	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641583C>T	ENST00000343870.4	+	1	602	c.512C>T	c.(511-513)aCt>aTt	p.T171I		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						GCAGCCAACACTGTAGATCAT	0.443													T	55641583	C	T	55641583	3	4	364	1	0	0	0	0	1	0	0	0	11274	565	20	2	514	2	OR6C74	12	55641583	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	220919	55641583	78210312	9643	33145											
OR6C74	254783	broad.mit.edu	37	chr12	55641851	55641851	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcatgtatgtgaaaccCtcagcaaaagaaagagtgtc	15	10	8	8	0	3	3	2	1	1	2	4	3	3	3	1	0	2	2	1	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55641851C>A	ENST00000343870.4	+	1	870	c.780C>A	c.(778-780)ccC>ccA	p.P260P		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						ATGTGAAACCCTCAGCAAAAG	0.403													A	55641851	C	A	55641851	2	1	364	1	0	0	0	0	0	0	0	1	11274	668	24	4		4	OR6C74	12	55641851	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	268	55641851	78210044	9644	33146											
OR6C1	390321	broad.mit.edu	37	chr12	55715121	55715121	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccacatggttgttgtCtccatctcttatggcagctg	5	16	8	12	0	3	0	0	0	3	0	6	0	4	0	2	2	1	4	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55715121C>A	ENST00000379668.2	+	1	776	c.738C>A	c.(736-738)gtC>gtA	p.V246V		NM_001005182.1	NP_001005182.1	Q96RD1	OR6C1_HUMAN	olfactory receptor, family 6, subfamily C, member 1	246			V -> I (in dbSNP:rs7132916).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|liver(2)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)	25						TGGTTGTTGTCTCCATCTCTT	0.403													A	55715121	C	A	55715121	2	1	364	1	0	0	0	0	0	0	0	1	11266	900	32	4		4	OR6C1	12	55715121	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73270	55715121	78136774	9645	33147											
OR6C3	254786	broad.mit.edu	37	chr12	55725688	55725688	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttctctttcttagaaatCtcatttacaaccgtatgcat	12	16	3	10	1	3	1	1	0	3	1	5	1	3	1	1	0	4	2	1	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55725688C>A	ENST00000379667.1	+	1	204	c.204C>A	c.(202-204)atC>atA	p.I68I		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	68					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						TCTTAGAAATCTCATTTACAA	0.418													A	55725688	C	A	55725688	2	1	364	1	0	0	0	0	0	0	0	1	11268	903	32	4		4	OR6C3	12	55725688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10567	55725688	78126207	9646	33148											
OR6C65	403282	broad.mit.edu	37	chr12	55795115	55795115	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaagaaggtatggcttTgagcaaaggtgtagcagtgc	13	9	14	5	0	0	2	0	1	0	1	0	2	0	2	0	3	4	6	0	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:55795115T>C	ENST00000379665.2	+	1	902	c.803T>C	c.(802-804)tTg>tCg	p.L268S		NM_001005518.1	NP_001005518.1	A6NJZ3	O6C65_HUMAN	olfactory receptor, family 6, subfamily C, member 65	268					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(3)|lung(9)	15						GGTATGGCTTTGAGCAAAGGT	0.393													C	55795115	T	C	55795115	3	2	364	1	0	0	0	0	1	0	0	0	11271	1821	63	3	805	3	OR6C65	12	55795115	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	69427	55795115	78056780	9647	33149											
ITGA7	3679	broad.mit.edu	37	chr12	56091753	56091753	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgacaacccccaggctgCtcccatggtagatgaagact	10	7	11	13	1	0	3	0	1	0	2	1	4	1	3	3	3	2	3	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56091753C>A	ENST00000257880.7	-	9	1601	c.1382G>T	c.(1381-1383)aGc>aTc	p.S461I	ITGA7_ENST00000347027.6_Missense_Mutation_p.S417I|ITGA7_ENST00000394229.2_Missense_Mutation_p.S417I|ITGA7_ENST00000555728.1_Missense_Mutation_p.S461I|ITGA7_ENST00000452168.2_Missense_Mutation_p.S324I|ITGA7_ENST00000257879.6_Missense_Mutation_p.S417I|ITGA7_ENST00000553804.1_Missense_Mutation_p.S421I|ITGA7_ENST00000394230.2_Missense_Mutation_p.S421I			Q13683	ITA7_HUMAN	integrin, alpha 7	461					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCAGGCTGCTCCCATGGTA	0.597													A	56091753	C	A	56091753	3	1	364	1	0	0	0	0	1	0	0	0	7939	797	28	4	2235	4	ITGA7	12	56091753	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296638	56091753	77760142	9648	33150											
ITGA7	3679	broad.mit.edu	37	chr12	56092276	56092276	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccagcccagtgacccccCtggttcaagtacacatacac	11	7	6	17	0	1	1	1	1	0	0	2	1	2	1	5	1	3	2	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56092276C>A	ENST00000257880.7	-	8	1434	c.1215G>T	c.(1213-1215)caG>caT	p.Q405H	ITGA7_ENST00000347027.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000394229.2_Missense_Mutation_p.Q361H|ITGA7_ENST00000555728.1_Missense_Mutation_p.Q405H|ITGA7_ENST00000452168.2_Missense_Mutation_p.Q268H|ITGA7_ENST00000257879.6_Missense_Mutation_p.Q361H|ITGA7_ENST00000553804.1_Missense_Mutation_p.Q365H|ITGA7_ENST00000394230.2_Missense_Mutation_p.Q365H			Q13683	ITA7_HUMAN	integrin, alpha 7	405					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						AGTGACCCCCCTGGTTCAAGT	0.607													A	56092276	C	A	56092276	3	1	364	1	0	0	0	0	1	0	0	0	7939	680	24	4	2406	4	ITGA7	12	56092276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	523	56092276	77759619	9649	33151											
BLOC1S1	2647	broad.mit.edu	37	chr12	56113373	56113373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatatgtctacaaagggcagCtgcagtctgccccttcctag	10	10	9	12	0	2	0	0	0	2	0	3	0	3	0	3	1	4	3	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56113373C>T	ENST00000547076.1	+	4	723	c.208C>T	c.(208-210)Ctg>Ttg	p.L70L	BLOC1S1_ENST00000548925.1_Silent_p.L148L|RP11-644F5.10_ENST00000550412.1_Intron|BLOC1S1_ENST00000548556.1_Silent_p.L70L|RP11-644F5.10_ENST00000549424.1_Intron|BLOC1S1_ENST00000549147.1_3'UTR|BLOC1S1_ENST00000257899.2_Silent_p.L120L			P78537	BL1S1_HUMAN	biogenesis of lysosomal organelles complex-1, subunit 1	148					cellular membrane organization|melanosome organization|platelet dense granule organization|post-Golgi vesicle-mediated transport	BLOC-1 complex|lysosomal membrane	protein binding			breast(1)|endometrium(1)|large_intestine(1)|prostate(1)	4						CAAAGGGCAGCTGCAGTCTGC	0.582													T	56113373	C	T	56113373	2	4	364	1	0	0	0	0	0	0	0	1	1454	796	28	2		2	BLOC1S1	12	56113373	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21097	56113373	77738522	9650	33152											
CD63	967	broad.mit.edu	37	chr12	56121015	56121015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaagacacccactgCgatgatgaccactggcaaca	15	4	11	11	1	0	4	0	2	0	2	0	7	0	5	2	2	2	1	2	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56121015C>T	ENST00000549117.1	-	3	611	c.175G>A	c.(175-177)Gca>Aca	p.A59T	CD63_ENST00000546939.1_5'UTR|CD63_ENST00000420846.3_Missense_Mutation_p.A59T|CD63_ENST00000552754.1_Missense_Mutation_p.A36T|CD63_ENST00000552692.1_Missense_Mutation_p.A59T|CD63_ENST00000257857.4_Missense_Mutation_p.A59T|CD63_ENST00000550776.1_5'UTR	NM_001257389.1	NP_001244318.1	P08962	CD63_HUMAN	CD63 molecule	59					platelet activation|platelet degranulation	integral to plasma membrane|late endosome membrane|lysosomal membrane|platelet dense granule membrane				kidney(1)|large_intestine(3)|lung(2)|ovary(1)	7						ACACCCACTGCGATGATGACC	0.587													T	56121015	C	T	56121015	3	4	364	1	0	0	0	0	1	0	0	0	3059	768	27	1	565	1	CD63	12	56121015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7642	56121015	77730880	9651	33153											
GDF11	10220	broad.mit.edu	37	chr12	56142563	56142563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaccgcagggggagggggCggaggccggcgtcacatccg	6	2	22	11	5	1	0	1	0	0	0	2	3	2	3	3	8	0	1	3	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56142563C>T	ENST00000257868.5	+	2	676	c.639C>T	c.(637-639)ggC>ggT	p.G213G		NM_005811.3	NP_005802.1	O95390	GDF11_HUMAN	growth differentiation factor 11	213	Poly-Gly.				growth|mesoderm development|skeletal system development	extracellular space	cytokine activity|growth factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|urinary_tract(1)	12						GGGGAGGGGGCGGAGGCCGGC	0.602													T	56142563	C	T	56142563	2	4	364	1	0	0	0	0	0	0	0	1	6368	755	27	1		1	GDF11	12	56142563	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21548	56142563	77709332	9652	33154											
DNAJC14	85406	broad.mit.edu	37	chr12	56222254	56222254	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgggctgggtttgggtgCtgtgtgtgcttaggaccaga	6	12	17	6	0	0	1	0	0	0	1	0	2	0	2	1	4	2	4	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56222254C>A	ENST00000357606.3	-	3	478	c.189G>T	c.(187-189)caG>caT	p.Q63H	DNAJC14_ENST00000317269.3_Missense_Mutation_p.Q63H|DNAJC14_ENST00000317287.5_Missense_Mutation_p.Q63H			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	63					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						GGTTTGGGTGCTGTGTGTGCT	0.577													A	56222254	C	A	56222254	3	1	364	1	0	0	0	0	1	0	0	0	4672	796	28	4	1943	4	DNAJC14	12	56222254	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79691	56222254	77629641	9653	33155											
MMP19	4327	broad.mit.edu	37	chr12	56231369	56231369	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaccttttggttgagaggCcaatagagagctgcatccag	12	9	11	9	0	0	2	0	1	0	2	1	4	1	2	3	2	3	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56231369C>T	ENST00000394182.1	-	3	299	c.300G>A	c.(298-300)tgG>tgA	p.W100*	MMP19_ENST00000322569.4_Nonsense_Mutation_p.W386*|MMP19_ENST00000409200.3_Intron|MMP19_ENST00000548629.1_Nonsense_Mutation_p.W363*			Q99542	MMP19_HUMAN	matrix metallopeptidase 19	386					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						GGTTGAGAGGCCAATAGAGAG	0.463													T	56231369	C	T	56231369	4	4	364	1	0	0	0	0	0	1	0	0	9732	740	26	2	376	2	MMP19	12	56231369	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9115	56231369	77620526	9654	33156											
MMP19	4327	broad.mit.edu	37	chr12	56236156	56236156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcagagcctcggtgatatCttctggcttgaagttattag	8	14	10	9	1	3	3	1	2	2	1	4	3	3	3	2	2	1	2	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56236156C>T	ENST00000322569.4	-	2	245	c.154G>A	c.(154-156)Gat>Aat	p.D52N	MMP19_ENST00000409200.3_Missense_Mutation_p.D52N|MMP19_ENST00000547487.1_5'UTR|MMP19_ENST00000548629.1_Missense_Mutation_p.D52N	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	52					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding	p.D52Y(1)		endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						TCGGTGATATCTTCTGGCTTG	0.488													T	56236156	C	T	56236156	3	4	364	1	0	0	0	0	1	0	0	0	9732	913	32	2	1404	2	MMP19	12	56236156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4787	56236156	77615739	9655	33157											
DGKA	1606	broad.mit.edu	37	chr12	56335065	56335065	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctaacacccacccactTctcgtctttgtcaatcctaa	9	13	3	16	1	3	0	1	0	2	0	6	0	5	0	4	0	1	1	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56335065T>C	ENST00000331886.5	+	14	1585	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Silent_p.L377L|DGKA_ENST00000394147.1_Silent_p.L377L	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	377	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACCCACTTCTCGTCTTTG	0.498													C	56335065	T	C	56335065	2	2	364	1	0	0	0	0	0	0	0	1	4504	1770	62	3		3	DGKA	12	56335065	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	98909	56335065	77516830	9656	33158											
CDK2	1017	broad.mit.edu	37	chr12	56361852	56361852	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctggatgtcattcacAcagaaaataaactctacctg	13	10	8	10	0	3	1	2	0	1	1	3	2	3	2	1	2	3	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56361852A>G	ENST00000266970.4	+	3	454	c.214A>G	c.(214-216)Aca>Gca	p.T72A	CDK2_ENST00000354056.4_Missense_Mutation_p.T72A|CDK2_ENST00000556656.1_3'UTR|CDK2_ENST00000440311.2_Missense_Mutation_p.T46A|CDK2_ENST00000553376.1_Missense_Mutation_p.T72A	NM_001798.3	NP_001789.2	P24941	CDK2_HUMAN	cyclin-dependent kinase 2	72	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|blood coagulation|cell division|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA replication|G1/S transition of mitotic cell cycle|G2 phase of mitotic cell cycle|G2/M transition of mitotic cell cycle|histone phosphorylation|M/G1 transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation|Ras protein signal transduction|regulation of DNA replication|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol	ATP binding|cyclin-dependent protein kinase activity|identical protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	18			UCEC - Uterine corpus endometrioid carcinoma (6;0.123)|OV - Ovarian serous cystadenocarcinoma(18;0.235)			TGTCATTCACACAGAAAATAA	0.438													G	56361852	A	G	56361852	3	3	364	1	0	0	0	0	1	0	0	0	3166	159	6	3	224	3	CDK2	12	56361852	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26787	56361852	77490043	9657	33159											
SUOX	6821	broad.mit.edu	37	chr12	56398397	56398397	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctctccatctgtggaCtgggagactgtagattttga	7	14	12	8	0	2	3	0	1	2	2	4	5	3	4	1	3	0	2	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56398397C>A	ENST00000394109.3	+	3	1948	c.1224C>A	c.(1222-1224)gaC>gaA	p.D408E	SUOX_ENST00000394115.2_Missense_Mutation_p.D408E|SUOX_ENST00000266971.3_Missense_Mutation_p.D408E|SUOX_ENST00000551841.2_3'UTR|SUOX_ENST00000548274.1_Missense_Mutation_p.D408E|SUOX_ENST00000356124.4_Missense_Mutation_p.D408E			P51687	SUOX_HUMAN	sulfite oxidase	408	Molybdenum-pterin domain (By similarity).					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			CATCTGTGGACTGGGAGACTG	0.552													A	56398397	C	A	56398397	3	1	364	1	0	0	0	0	1	0	0	0	15491	564	20	4	1234	4	SUOX	12	56398397	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36545	56398397	77453498	9658	33160											
IKZF4	64375	broad.mit.edu	37	chr12	56428881	56428881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggggttattgcggggCaccccaggcccctccaagga	8	5	15	13	1	0	0	0	0	0	0	1	2	1	2	5	7	1	2	5	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56428881C>T	ENST00000262032.5	+	12	1891	c.1524C>T	c.(1522-1524)ggC>ggT	p.G508G	RP11-603J24.4_ENST00000551846.1_RNA|IKZF4_ENST00000547167.1_Silent_p.G508G|IKZF4_ENST00000431367.2_Silent_p.G406G|IKZF4_ENST00000547791.1_Silent_p.G463G			Q9H2S9	IKZF4_HUMAN	IKAROS family zinc finger 4 (Eos)	508					negative regulation of transcription, DNA-dependent	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|lung(3)|ovary(1)|prostate(1)	8			UCEC - Uterine corpus endometrioid carcinoma (6;0.025)|OV - Ovarian serous cystadenocarcinoma(18;0.123)			TATTGCGGGGCACCCCAGGCC	0.647													T	56428881	C	T	56428881	2	4	364	1	0	0	0	0	0	0	0	1	7675	697	25	2		2	IKZF4	12	56428881	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30484	56428881	77423014	9659	33161											
ERBB3	2065	broad.mit.edu	37	chr12	56487333	56487333	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcggccgcgcagagactgCggtgagggaaagggtctgct	9	6	17	9	4	1	2	0	1	1	1	2	4	1	3	1	4	2	2	1	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56487333C>T	ENST00000267101.3	+	12	1919	c.1479C>T	c.(1477-1479)tgC>tgT	p.C493C	ERBB3_ENST00000415288.2_Splice_Site_p.C434C|ERBB3_ENST00000450146.2_Intron	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	493					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GCAGAGACTGCGGTGAGGGAA	0.572													T	56487333	C	T	56487333	5	4	364	1	0	0	0	0	0	0	1	0	5249	782	27	1	1656	1	ERBB3	12	56487333	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58452	56487333	77364562	9660	33162											
ERBB3	2065	broad.mit.edu	37	chr12	56493456	56493456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgattgatgagaacattcGcccaacctttaaagaactag	15	10	8	8	1	0	4	0	3	0	2	1	6	0	4	2	0	3	0	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56493456G>A	ENST00000267101.3	+	24	3304	c.2864G>A	c.(2863-2865)cGc>cAc	p.R955H	ERBB3_ENST00000415288.2_Missense_Mutation_p.R896H|ERBB3_ENST00000450146.2_Missense_Mutation_p.R312H|ERBB3_ENST00000549832.1_Missense_Mutation_p.R75H|ERBB3_ENST00000553131.1_Missense_Mutation_p.R196H	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	955	Protein kinase.				cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GAGAACATTCGCCCAACCTTT	0.493													A	56493456	G	A	56493456	3	1	364	1	0	0	0	0	1	0	0	0	5249	1087	38	1	3089	1	ERBB3	12	56493456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6123	56493456	77358439	9661	33163											
PA2G4	5036	broad.mit.edu	37	chr12	56504771	56504771	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgaagatgagaagaaggCtcggatgggtgtggtggagt	11	10	18	2	1	0	4	0	2	0	3	1	7	0	6	0	5	0	1	0	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56504771C>A	ENST00000303305.6	+	10	1285	c.866C>A	c.(865-867)gCt>gAt	p.A289D	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	289					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAGAAGAAGGCTCGGATGGGT	0.423													A	56504771	C	A	56504771	3	1	364	1	0	0	0	0	1	0	0	0	11437	797	28	4	904	4	PA2G4	12	56504771	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11315	56504771	77347124	9662	33164											
ZC3H10	84872	broad.mit.edu	37	chr12	56515435	56515435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgaccccagagatcacGccactgtcagctgccctggc	8	7	9	17	1	2	2	2	1	0	1	2	3	2	2	4	1	2	1	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56515435G>A	ENST00000257940.2	+	3	1365	c.1089G>A	c.(1087-1089)acG>acA	p.T363T	RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	363	Pro-rich.						nucleic acid binding|zinc ion binding			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAGATCACGCCACTGTCAG	0.627													A	56515435	G	A	56515435	2	1	364	1	0	0	0	0	0	0	0	1	17660	1074	38	1		1	ZC3H10	12	56515435	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10664	56515435	77336460	9663	33165											
ESYT1	23344	broad.mit.edu	37	chr12	56530574	56530574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggagcactgacgctgcCtctggcccgcctgctgactg	5	10	12	14	2	1	2	0	2	1	0	1	3	1	3	3	2	3	3	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56530574C>A	ENST00000394048.5	+	16	1943	c.1679C>A	c.(1678-1680)cCt>cAt	p.P560H	ESYT1_ENST00000541590.1_Missense_Mutation_p.P570H|ESYT1_ENST00000267113.4_Missense_Mutation_p.P570H	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	560						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CTGACGCTGCCTCTGGCCCGC	0.552													A	56530574	C	A	56530574	3	1	364	1	0	0	0	0	1	0	0	0	5305	681	24	4	1771	4	ESYT1	12	56530574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15139	56530574	77321321	9664	33166											
ESYT1	23344	broad.mit.edu	37	chr12	56532196	56532196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccctccacaggtgctgcaGgtgaatagtttgatccagac	9	9	11	12	0	0	3	0	2	0	1	2	3	2	3	4	2	2	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56532196G>T	ENST00000394048.5	+	22	2610	c.2346G>T	c.(2344-2346)caG>caT	p.Q782H	ESYT1_ENST00000541590.1_Missense_Mutation_p.Q792H|ESYT1_ENST00000267113.4_Missense_Mutation_p.Q792H|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	782						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AGGTGCTGCAGGTGAATAGTT	0.592													T	56532196	G	T	56532196	3	4	364	1	0	0	0	0	1	0	0	0	5305	991	35	4	2462	4	ESYT1	12	56532196	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1622	56532196	77319699	9665	33167											
ESYT1	23344	broad.mit.edu	37	chr12	56536630	56536630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccacagtccccttgaggCtccagccgggcctctgggcc	4	8	11	18	1	2	1	0	1	2	0	5	1	4	1	7	3	1	1	7	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536630C>T	ENST00000394048.5	+	27	3164	c.2900C>T	c.(2899-2901)gCt>gTt	p.A967V	ESYT1_ENST00000541590.1_Missense_Mutation_p.A977V|ESYT1_ENST00000267113.4_Missense_Mutation_p.A977V|ESYT1_ENST00000550878.1_3'UTR	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	967						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						CCCCTTGAGGCTCCAGCCGGG	0.517													T	56536630	C	T	56536630	3	4	364	1	0	0	0	0	1	0	0	0	5305	797	28	2	3036	2	ESYT1	12	56536630	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4434	56536630	77315265	9666	33168											
ESYT1	23344	broad.mit.edu	37	chr12	56536911	56536911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagaagaagaggacccTgagtcctgaatttaatgaac	15	8	9	9	0	1	6	1	3	0	3	2	7	2	7	2	1	1	0	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56536911T>C	ENST00000394048.5	+	28	3362	c.3098T>C	c.(3097-3099)cTg>cCg	p.L1033P	ESYT1_ENST00000541590.1_Missense_Mutation_p.L1043P|ESYT1_ENST00000267113.4_Missense_Mutation_p.L1043P	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	1033	C2 5.					integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						AAGAGGACCCTGAGTCCTGAA	0.537													C	56536911	T	C	56536911	3	2	364	1	0	0	0	0	1	0	0	0	5305	1580	55	3	3238	3	ESYT1	12	56536911	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	281	56536911	77314984	9667	33169											
MYL6	4637	broad.mit.edu	37	chr12	56555180	56555180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttccacagagctcgtccGcatggtgctgaatggctgag	7	10	12	12	2	0	3	0	2	0	1	3	3	2	3	3	2	2	4	3	2	1	1	rs112034060		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56555180G>A	ENST00000549566.1	+	4	616	c.572G>A	c.(571-573)cGc>cAc	p.R191H	MYL6_ENST00000550697.1_3'UTR|MYL6_ENST00000293422.5_Missense_Mutation_p.R147H|MYL6_ENST00000548580.1_Missense_Mutation_p.R98H|MYL6_ENST00000548400.1_3'UTR|MYL6_ENST00000549017.1_Missense_Mutation_p.R42H|MYL6_ENST00000547649.1_Missense_Mutation_p.R146H|MYL6_ENST00000547408.1_Intron|MYL6_ENST00000348108.4_3'UTR			P60660	MYL6_HUMAN	myosin, light chain 6, alkali, smooth muscle and non-muscle	146					axon guidance|muscle filament sliding|skeletal muscle tissue development	cytosol|unconventional myosin complex	actin-dependent ATPase activity|calcium ion binding|motor activity|structural constituent of muscle			large_intestine(1)|lung(1)|ovary(1)|prostate(3)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(18;0.0979)			GAGCTCGTCCGCATGGTGCTG	0.552													A	56555180	G	A	56555180	3	1	364	1	0	0	0	0	1	0	0	0	10127	1087	38	1	492	1	MYL6	12	56555180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18269	56555180	77296715	9668	33170											
SLC39A5	283375	broad.mit.edu	37	chr12	56629383	56629383	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggacctggcggactaccaGagaaggacctgggcccgggg	9	3	17	12	2	0	1	0	0	0	1	0	5	0	4	4	7	1	0	4	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56629383G>T	ENST00000266980.4	+	6	1137	c.844G>T	c.(844-846)Gag>Tag	p.E282*	SLC39A5_ENST00000454355.2_Nonsense_Mutation_p.E282*	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	282					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CGGACTACCAGAGAAGGACCT	0.627													T	56629383	G	T	56629383	4	4	364	1	0	0	0	0	0	1	0	0	14715	943	33	4	862	4	SLC39A5	12	56629383	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74203	56629383	77222512	9669	33171											
SLC39A5	283375	broad.mit.edu	37	chr12	56631045	56631045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgggggtggggctcaGcctgggccctgtccccctca	3	8	15	15	0	2	0	2	0	0	0	4	0	4	0	5	5	1	1	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56631045G>T	ENST00000266980.4	+	10	1693	c.1400G>T	c.(1399-1401)aGc>aTc	p.S467I	SLC39A5_ENST00000454355.2_Missense_Mutation_p.S467I|SLC39A5_ENST00000419232.1_3'UTR	NM_001135195.1	NP_001128667.1	Q6ZMH5	S39A5_HUMAN	solute carrier family 39 (zinc transporter), member 5	467					zinc ion transport	basolateral plasma membrane|integral to membrane	metal ion transmembrane transporter activity			NS(1)|cervix(6)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GTGGGGCTCAGCCTGGGCCCT	0.647													T	56631045	G	T	56631045	3	4	364	1	0	0	0	0	1	0	0	0	14715	971	34	4	1434	4	SLC39A5	12	56631045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1662	56631045	77220850	9670	33172											
CNPY2	10330	broad.mit.edu	37	chr12	56708994	56708994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagggccagccaaccccagCctttcatctttagcgtaatg	9	9	9	14	1	2	0	1	0	1	0	2	0	2	0	5	1	4	2	5	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56708994C>T	ENST00000273308.4	-	2	548	c.8G>A	c.(7-9)gGc>gAc	p.G3D	RP11-977G19.10_ENST00000549318.1_Missense_Mutation_p.G3D|CNPY2_ENST00000551720.1_5'UTR	NM_014255.5	NP_055070.1	Q9Y2B0	CNPY2_HUMAN	canopy FGF signaling regulator 2	3						endoplasmic reticulum|integral to plasma membrane	protein binding			large_intestine(2)|lung(2)	4						CCAACCCCAGCCTTTCATCTT	0.577													T	56708994	C	T	56708994	3	4	364	1	0	0	0	0	1	0	0	0	3659	739	26	2	560	2	CNPY2	12	56708994	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77949	56708994	77142901	9671	33173											
PAN2	9924	broad.mit.edu	37	chr12	56715903	56715903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagattccgtttgacataaTaaaggattgcaggtactttc	12	14	9	6	1	0	2	0	2	0	1	2	4	1	3	1	2	2	3	1	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56715903T>C	ENST00000425394.2	-	20	3135	c.2759A>G	c.(2758-2760)tAt>tGt	p.Y920C	PAN2_ENST00000548043.1_Missense_Mutation_p.Y920C|PAN2_ENST00000440411.3_Missense_Mutation_p.Y916C|PAN2_ENST00000257931.5_Missense_Mutation_p.Y919C	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	920					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TTTGACATAATAAAGGATTGC	0.398													C	56715903	T	C	56715903	3	2	364	1	0	0	0	0	1	0	0	0	11490	1406	49	3	877	3	PAN2	12	56715903	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6909	56715903	77135992	9672	33174											
PAN2	9924	broad.mit.edu	37	chr12	56716231	56716231	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaataggttcaataagaaaGtcattgaacagataccactg	17	10	7	7	0	3	3	3	1	0	2	3	3	3	3	1	1	2	1	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56716231G>A	ENST00000425394.2	-	19	3061	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	PAN2_ENST00000548043.1_Silent_p.D895D|PAN2_ENST00000440411.3_Silent_p.D891D|PAN2_ENST00000257931.5_Silent_p.D894D	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	895					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						CAATAAGAAAGTCATTGAACA	0.403													A	56716231	G	A	56716231	2	1	364	1	0	0	0	0	0	0	0	1	11490	1020	36	2		2	PAN2	12	56716231	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	328	56716231	77135664	9673	33175											
PAN2	9924	broad.mit.edu	37	chr12	56718252	56718252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaggcctcaggaatagtaCggaatgcccgaagaaaatta	15	7	11	8	2	1	2	1	1	0	1	1	5	1	4	2	3	2	1	2	3	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56718252C>T	ENST00000425394.2	-	12	2130	c.1754G>A	c.(1753-1755)cGt>cAt	p.R585H	PAN2_ENST00000548043.1_Missense_Mutation_p.R585H|PAN2_ENST00000440411.3_Missense_Mutation_p.R585H|PAN2_ENST00000257931.5_Missense_Mutation_p.R585H	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	585					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGAATAGTACGGAATGCCCG	0.502													T	56718252	C	T	56718252	3	4	364	1	0	0	0	0	1	0	0	0	11490	536	19	1	1914	1	PAN2	12	56718252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2021	56718252	77133643	9674	33176											
PAN2	9924	broad.mit.edu	37	chr12	56720656	56720656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgctggctgacacatcaAatgtcattagcagaggcccc	10	9	10	12	0	2	2	2	1	0	1	2	2	2	2	2	2	2	4	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56720656A>G	ENST00000425394.2	-	7	1383	c.1007T>C	c.(1006-1008)tTt>tCt	p.F336S	PAN2_ENST00000548043.1_Missense_Mutation_p.F336S|PAN2_ENST00000440411.3_Missense_Mutation_p.F336S|PAN2_ENST00000257931.5_Missense_Mutation_p.F336S	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	336					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						TGACACATCAAATGTCATTAG	0.557													G	56720656	A	G	56720656	3	3	364	1	0	0	0	0	1	0	0	0	11490	14	1	3	2681	3	PAN2	12	56720656	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2404	56720656	77131239	9675	33177											
PAN2	9924	broad.mit.edu	37	chr12	56721409	56721409	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtacggaggtctctcaGggaaacctagaaaaaaaaaa	21	5	9	6	1	2	1	1	0	1	1	3	3	2	3	1	3	2	1	1	3	10	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56721409G>T	ENST00000425394.2	-	6	1034	c.658C>A	c.(658-660)Ctg>Atg	p.L220M	PAN2_ENST00000548043.1_Missense_Mutation_p.L220M|PAN2_ENST00000440411.3_Missense_Mutation_p.L220M|PAN2_ENST00000257931.5_Missense_Mutation_p.L220M	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	220					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						AGGTCTCTCAGGGAAACCTAG	0.448													T	56721409	G	T	56721409	3	4	364	1	0	0	0	0	1	0	0	0	11490	991	35	4	3034	4	PAN2	12	56721409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	753	56721409	77130486	9676	33178											
IL23A	51561	broad.mit.edu	37	chr12	56733533	56733533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaagctgctaggatcggAtattttcacaggggagcctt	10	11	13	7	1	1	1	1	1	0	1	2	5	1	4	1	4	3	2	1	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56733533A>G	ENST00000228534.4	+	3	486	c.320A>G	c.(319-321)gAt>gGt	p.D107G		NM_016584.2	NP_057668.1	Q9NPF7	IL23A_HUMAN	interleukin 23, alpha subunit p19	107					defense response to Gram-negative bacterium|inflammatory response|innate immune response|negative regulation of interleukin-10 production|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to virus|tissue remodeling	interleukin-23 complex	cytokine activity			kidney(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	5						CTAGGATCGGATATTTTCACA	0.512													G	56733533	A	G	56733533	3	3	364	1	0	0	0	0	1	0	0	0	7733	333	12	3	330	3	IL23A	12	56733533	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12124	56733533	77118362	9677	33179											
SPRYD4	283377	broad.mit.edu	37	chr12	56863244	56863244	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcctggtggatgtgagccaGgtctctgtggttcacacgct	6	11	14	10	1	2	1	1	1	1	0	3	2	2	2	2	4	2	2	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56863244G>T	ENST00000338146.5	+	2	582	c.507G>T	c.(505-507)caG>caT	p.Q169H		NM_207344.3	NP_997227	Q8WW59	SPRY4_HUMAN	SPRY domain containing 4	169	B30.2/SPRY.					nucleus				kidney(1)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)	7						ATGTGAGCCAGGTCTCTGTGG	0.592													T	56863244	G	T	56863244	3	4	364	1	0	0	0	0	1	0	0	0	15206	991	35	4	513	4	SPRYD4	12	56863244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129711	56863244	76988651	9678	33180											
GLS2	27165	broad.mit.edu	37	chr12	56867069	56867069	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcacagtgcctcaggttGtcatagttgtggaaattgaa	11	11	12	7	1	2	1	2	1	0	0	2	3	2	2	1	2	2	3	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56867069G>A	ENST00000311966.4	-	14	1670	c.1392C>T	c.(1390-1392)gaC>gaT	p.D464D		NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	464					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCTCAGGTTGTCATAGTTGT	0.423													A	56867069	G	A	56867069	2	1	364	1	0	0	0	0	0	0	0	1	6520	1368	48	2		2	GLS2	12	56867069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3825	56867069	76984826	9679	33181											
RBMS2	5939	broad.mit.edu	37	chr12	56980711	56980711	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacctcatgcagccttcaGtgagtattcagaagtgggca	11	10	10	10	0	3	2	3	1	0	1	3	2	3	2	2	1	3	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56980711G>T	ENST00000262031.5	+	10	1046		c.e10+1		RBMS2_ENST00000542360.1_Splice_Site|RBMS2_ENST00000550726.1_Splice_Site|RBMS2_ENST00000552247.2_Intron	NM_002898.3	NP_002889.1	Q15434	RBMS2_HUMAN	RNA binding motif, single stranded interacting protein 2						RNA processing	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(8)|prostate(3)|skin(2)|urinary_tract(1)	18						GCAGCCTTCAGTGAGTATTCA	0.458													T	56980711	G	T	56980711	5	4	364	1	0	0	0	0	0	0	1	0	13237	1043	36	4	990	4	RBMS2	12	56980711	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113642	56980711	76871184	9680	33182											
BAZ2A	11176	broad.mit.edu	37	chr12	56994235	56994235	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtgctcacagtaggccaAgtcttcacgggtagagtctg	9	9	14	9	1	4	1	2	0	2	1	4	2	4	1	1	3	1	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56994235A>C	ENST00000179765.5	-	25	4751	c.4552T>G	c.(4552-4554)Ttg>Gtg	p.L1518V	BAZ2A_ENST00000379441.3_Missense_Mutation_p.L1520V|BAZ2A_ENST00000551812.1_Missense_Mutation_p.L1550V|BAZ2A_ENST00000549884.1_Missense_Mutation_p.L1548V			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1550					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						CAGTAGGCCAAGTCTTCACGG	0.517													C	56994235	A	C	56994235	3	2	364	1	0	0	0	0	1	0	0	0	1336	69	3	5	1093	5	BAZ2A	12	56994235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13524	56994235	76857660	9681	33183											
BAZ2A	11176	broad.mit.edu	37	chr12	56995055	56995055	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccctctccgtttgggCtgtcccagccctgtgggact	2	12	12	15	1	2	0	0	0	2	0	5	1	3	1	4	3	1	2	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56995055C>T	ENST00000179765.5	-	22	4312	c.4113G>A	c.(4111-4113)caG>caA	p.Q1371Q	BAZ2A_ENST00000379441.3_Silent_p.Q1373Q|BAZ2A_ENST00000551812.1_Silent_p.Q1403Q|BAZ2A_ENST00000553222.1_5'UTR|BAZ2A_ENST00000549884.1_Silent_p.Q1401Q			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1403	Pro-rich.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TCCGTTTGGGCTGTCCCAGCC	0.592													T	56995055	C	T	56995055	2	4	364	1	0	0	0	0	0	0	0	1	1336	796	28	2		2	BAZ2A	12	56995055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820	56995055	76856840	9682	33184											
BAZ2A	11176	broad.mit.edu	37	chr12	56996556	56996556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatacggcaatacccagtagCgacgtctgtagcggtcctga	11	8	11	11	4	1	1	0	1	1	0	2	2	2	1	2	2	4	3	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:56996556C>T	ENST00000179765.5	-	20	3474	c.3275G>A	c.(3274-3276)cGc>cAc	p.R1092H	BAZ2A_ENST00000379441.3_Missense_Mutation_p.R1094H|BAZ2A_ENST00000551812.1_Missense_Mutation_p.R1124H|BAZ2A_ENST00000549884.1_Missense_Mutation_p.R1122H			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	1124					chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						TACCCAGTAGCGACGTCTGTA	0.517													T	56996556	C	T	56996556	3	4	364	1	0	0	0	0	1	0	0	0	1336	768	27	1	2390	1	BAZ2A	12	56996556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1501	56996556	76855339	9683	33185											
ATP5B	506	broad.mit.edu	37	chr12	57039093	57039093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgcgcccggtggcggCgcctgcttttggcgaaggag	5	7	17	12	6	0	0	0	0	0	0	0	3	0	1	2	5	2	1	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57039093C>T	ENST00000262030.3	-	2	222	c.172G>A	c.(172-174)Gcc>Acc	p.A58T	ATP5B_ENST00000552919.1_Missense_Mutation_p.A58T	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	58					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCGGTGGCGGCGCCTGCTTTT	0.562													T	57039093	C	T	57039093	3	4	364	1	0	0	0	0	1	0	0	0	1153	768	27	1	1453	1	ATP5B	12	57039093	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42537	57039093	76812802	9684	33186											
NACA	4666	broad.mit.edu	37	chr12	57110603	57110603	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttggaggatggggtagctgGggcttctttgggggttggaa	5	13	20	3	0	1	0	0	0	1	0	1	3	1	3	0	9	1	4	0	9	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57110603G>T	ENST00000454682.1	-	3	4992	c.4711C>A	c.(4711-4713)Cca>Aca	p.P1571T	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGGGTAGCTGGGGCTTCTTTG	0.587			T	BCL6	NHL								T	57110603	G	T	57110603	3	4	364	1	0	0	0	0	1	0	0	0	10209	1232	43	4	1553	4	NACA	12	57110603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71510	57110603	76741292	9685	33187											
NACA	4666	broad.mit.edu	37	chr12	57111806	57111806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggggttgtgggggcccCttttgggggtggggtagcta	3	11	21	6	0	0	0	0	0	0	0	0	0	0	0	2	8	2	4	2	8	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57111806C>T	ENST00000454682.1	-	3	3789	c.3508G>A	c.(3508-3510)Ggg>Agg	p.G1170R	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GTGGGGGCCCCTTTTGGGGGT	0.622			T	BCL6	NHL								T	57111806	C	T	57111806	3	4	364	1	0	0	0	0	1	0	0	0	10209	681	24	2	2756	2	NACA	12	57111806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1203	57111806	76740089	9686	33188											
NACA	4666	broad.mit.edu	37	chr12	57112225	57112225	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgggggtgtggatgcccctTtggggaatggggtagctgct	4	11	19	7	0	0	0	0	0	0	0	0	2	0	2	2	7	3	3	2	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57112225T>C	ENST00000454682.1	-	3	3370	c.3089A>G	c.(3088-3090)aAa>aGa	p.K1030R	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGATGCCCCTTTGGGGAATGG	0.637			T	BCL6	NHL								C	57112225	T	C	57112225	3	2	364	1	0	0	0	0	1	0	0	0	10209	1841	64	3	3175	3	NACA	12	57112225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	419	57112225	76739670	9687	33189											
NACA	4666	broad.mit.edu	37	chr12	57115005	57115005	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggccctattaggtttggTaggaaggttggggcttcagg	7	11	18	5	0	1	0	1	0	0	0	1	2	1	2	1	9	0	4	1	9	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57115005T>C	ENST00000454682.1	-	3	590	c.309A>G	c.(307-309)ctA>ctG	p.L103L	NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Silent_p.L103L|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	35	NAC-A/B.				interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTAGGTTTGGTAGGAAGGTTG	0.547			T	BCL6	NHL								C	57115005	T	C	57115005	2	2	364	1	0	0	0	0	0	0	0	1	10209	1625	57	3		3	NACA	12	57115005	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2780	57115005	76736890	9688	33190											
SDR9C7	121214	broad.mit.edu	37	chr12	57323240	57323240	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcctctcccaaagctttcGcatgcgtgactccaggttct	7	11	8	15	2	2	1	0	1	2	0	5	1	3	1	3	1	3	3	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57323240G>A	ENST00000293502.1	-	3	801	c.658C>T	c.(658-660)Cga>Tga	p.R220*		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	220						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CAAAGCTTTCGCATGCGTGAC	0.562													A	57323240	G	A	57323240	4	1	364	1	0	0	0	0	0	1	0	0	14067	1095	38	1	291	1	SDR9C7	12	57323240	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208235	57323240	76528655	9689	33191											
ZBTB39	9880	broad.mit.edu	37	chr12	57398141	57398141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcgtcactggcaacattCttctcttcctctttatagct	7	17	5	12	1	4	0	1	0	3	0	6	0	5	0	1	1	3	2	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57398141C>A	ENST00000300101.2	-	2	646	c.561G>T	c.(559-561)aaG>aaT	p.K187N		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						TGGCAACATTCTTCTCTTCCT	0.552													A	57398141	C	A	57398141	3	1	364	1	0	0	0	0	1	0	0	0	17641	912	32	4	1581	4	ZBTB39	12	57398141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74901	57398141	76453754	9690	33192											
MYO1A	4640	broad.mit.edu	37	chr12	57432321	57432321	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggattgccctcaggaaacaaGgaccgaaggagggggtgctg	11	5	17	8	1	1	0	1	0	0	0	1	5	1	4	2	6	3	1	2	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57432321G>T	ENST00000442789.2	-	18	1922	c.1635C>A	c.(1633-1635)tcC>tcA	p.S545S	MYO1A_ENST00000476795.1_5'UTR|MYO1A_ENST00000544473.1_Silent_p.S383S|MYO1A_ENST00000300119.3_Silent_p.S545S	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	545	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAGGAAACAAGGACCGAAGGA	0.532													T	57432321	G	T	57432321	2	4	364	1	0	0	0	0	0	0	0	1	10144	987	35	4		4	MYO1A	12	57432321	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34180	57432321	76419574	9691	33193											
MYO1A	4640	broad.mit.edu	37	chr12	57441824	57441824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatatttggcaatgaacTctggcccatagatgggaagc	11	11	11	8	0	1	3	0	2	1	1	1	4	1	4	1	3	2	1	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57441824T>C	ENST00000442789.2	-	4	466	c.179A>G	c.(178-180)gAg>gGg	p.E60G	MYO1A_ENST00000300119.3_Missense_Mutation_p.E60G	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	60	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						GGCAATGAACTCTGGCCCATA	0.493													C	57441824	T	C	57441824	3	2	364	1	0	0	0	0	1	0	0	0	10144	1551	54	3	3056	3	MYO1A	12	57441824	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9503	57441824	76410071	9692	33194											
TMEM194A	23306	broad.mit.edu	37	chr12	57457058	57457058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtcagcaggttgatacttCgttcattctccaagggccca	9	11	10	11	1	3	1	2	1	1	0	5	1	3	1	2	3	2	3	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57457058C>T	ENST00000300128.4	-	7	847	c.824G>A	c.(823-825)cGa>cAa	p.R275Q	TMEM194A_ENST00000379391.3_Missense_Mutation_p.R202Q	NM_001130963.1	NP_001124435.1	O14524	T194A_HUMAN	transmembrane protein 194A	275						integral to membrane				endometrium(3)|large_intestine(3)|lung(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GTTGATACTTCGTTCATTCTC	0.428													T	57457058	C	T	57457058	3	4	364	1	0	0	0	0	1	0	0	0	16216	884	31	1	522	1	TMEM194A	12	57457058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15234	57457058	76394837	9693	33195											
STAT6	6778	broad.mit.edu	37	chr12	57490680	57490680	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctggctcaggcagctgtcTtccaccatggtcacatctga	7	10	11	13	0	4	1	2	1	2	0	5	1	5	1	2	4	1	4	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57490680T>A	ENST00000300134.3	-	21	2632	c.2307A>T	c.(2305-2307)gaA>gaT	p.E769D	STAT6_ENST00000537215.2_Missense_Mutation_p.E659D|STAT6_ENST00000454075.3_Missense_Mutation_p.E769D|STAT6_ENST00000556155.1_Missense_Mutation_p.E769D|STAT6_ENST00000538913.2_Missense_Mutation_p.E659D|STAT6_ENST00000543873.2_Missense_Mutation_p.E769D	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	769					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						GGCAGCTGTCTTCCACCATGG	0.642													A	57490680	T	A	57490680	3	1	364	1	0	0	0	0	1	0	0	0	15366	1606	56	5	244	5	STAT6	12	57490680	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33622	57490680	76361215	9694	33196											
STAT6	6778	broad.mit.edu	37	chr12	57499092	57499092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgagtcttcagtacCtgggggggctgcttctccac	4	13	13	11	0	4	1	1	1	3	0	5	1	4	1	2	4	2	3	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57499092C>A	ENST00000300134.3	-	9	1168	c.843G>T	c.(841-843)caG>caT	p.Q281H	STAT6_ENST00000537215.2_Missense_Mutation_p.Q171H|STAT6_ENST00000454075.3_Missense_Mutation_p.Q281H|STAT6_ENST00000556155.1_Missense_Mutation_p.Q281H|STAT6_ENST00000538913.2_Missense_Mutation_p.Q171H|STAT6_ENST00000543873.2_Missense_Mutation_p.Q281H	NM_001178078.1|NM_003153.4	NP_001171549.1|NP_003144.3	P42226	STAT6_HUMAN	signal transducer and activator of transcription 6, interleukin-4 induced	281					regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	28						TCTTCAGTACCTGGGGGGGCT	0.632													A	57499092	C	A	57499092	3	1	364	1	0	0	0	0	1	0	0	0	15366	680	24	4	1756	4	STAT6	12	57499092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8412	57499092	76352803	9695	33197											
LRP1	4035	broad.mit.edu	37	chr12	57532252	57532252	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgccctagcccctaagacTtgcagccccaagcagtttgc	8	9	8	16	0	0	1	0	0	0	1	0	1	0	1	5	0	6	3	5	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57532252T>G	ENST00000243077.3	+	2	544	c.78T>G	c.(76-78)acT>acG	p.T26T	LRP1_ENST00000553277.1_Silent_p.T26T|LRP1_ENST00000554174.1_Silent_p.T26T|LRP1_ENST00000338962.4_Silent_p.T26T	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	26	LDL-receptor class A 1.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCCCTAAGACTTGCAGCCCCA	0.532													G	57532252	T	G	57532252	2	3	364	1	0	0	0	0	0	0	0	1	9021	1596	56	5		5	LRP1	12	57532252	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33160	57532252	76319643	9696	33198											
LRP1	4035	broad.mit.edu	37	chr12	57556241	57556241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccccactgtgacccttCtgcgcagtgagcggcccccc	5	6	9	21	2	1	2	0	2	1	0	1	2	1	2	7	1	2	1	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57556241C>A	ENST00000243077.3	+	14	2810	c.2344C>A	c.(2344-2346)Ctg>Atg	p.L782M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	782					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGACCCTTCTGCGCAGTGA	0.612													A	57556241	C	A	57556241	3	1	364	1	0	0	0	0	1	0	0	0	9021	912	32	4	2398	4	LRP1	12	57556241	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23989	57556241	76295654	9697	33199											
LRP1	4035	broad.mit.edu	37	chr12	57570895	57570895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctggctgtagactggattGcaggcaacatctactgggtg	8	10	14	9	0	1	1	0	0	1	1	1	2	1	2	1	4	3	4	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57570895G>A	ENST00000243077.3	+	25	4529	c.4063G>A	c.(4063-4065)Gca>Aca	p.A1355T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1355					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	AGACTGGATTGCAGGCAACAT	0.582													A	57570895	G	A	57570895	3	1	364	1	0	0	0	0	1	0	0	0	9021	1319	46	2	4161	2	LRP1	12	57570895	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14654	57570895	76281000	9698	33200											
LRP1	4035	broad.mit.edu	37	chr12	57573202	57573202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactacatcatctccttcaCggtgcccgacatcgacaacg	11	8	6	16	4	3	0	2	0	1	0	5	2	3	0	2	1	4	0	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57573202C>T	ENST00000243077.3	+	29	5295	c.4829C>T	c.(4828-4830)aCg>aTg	p.T1610M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1610					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ATCTCCTTCACGGTGCCCGAC	0.567													T	57573202	C	T	57573202	3	4	364	1	0	0	0	0	1	0	0	0	9021	536	19	1	4943	1	LRP1	12	57573202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2307	57573202	76278693	9699	33201											
LRP1	4035	broad.mit.edu	37	chr12	57574962	57574962	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataagggcaccaacccctgCagtgtcaacaacggtgactg	12	6	10	13	1	1	1	1	1	0	0	1	1	1	1	3	2	4	2	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57574962C>T	ENST00000243077.3	+	34	6016	c.5550C>T	c.(5548-5550)tgC>tgT	p.C1850C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1850	EGF-like 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCAACCCCTGCAGTGTCAACA	0.647													T	57574962	C	T	57574962	2	4	364	1	0	0	0	0	0	0	0	1	9021	718	25	2		2	LRP1	12	57574962	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1760	57574962	76276933	9700	33202											
LRP1	4035	broad.mit.edu	37	chr12	57577599	57577599	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatgggcctgagcacgAtcagccgggccaagcgggac	9	4	16	12	3	1	1	1	1	0	0	1	4	1	3	3	4	3	1	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57577599A>G	ENST00000243077.3	+	36	6302	c.5836A>G	c.(5836-5838)Atc>Gtc	p.I1946V		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1946					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGAGCACGATCAGCCGGGC	0.602													G	57577599	A	G	57577599	3	3	364	1	0	0	0	0	1	0	0	0	9021	333	12	3	5978	3	LRP1	12	57577599	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2637	57577599	76274296	9701	33203											
LRP1	4035	broad.mit.edu	37	chr12	57589899	57589899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatgcctcgtcacagttcCtgtgcagcagtgggcgctgt	6	10	13	12	2	1	0	1	0	0	0	3	0	2	0	2	1	3	5	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57589899C>A	ENST00000243077.3	+	55	9197	c.8731C>A	c.(8731-8733)Ctg>Atg	p.L2911M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2911	LDL-receptor class A 20.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GTCACAGTTCCTGTGCAGCAG	0.662													A	57589899	C	A	57589899	3	1	364	1	0	0	0	0	1	0	0	0	9021	680	24	4	8949	4	LRP1	12	57589899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12300	57589899	76261996	9702	33204											
LRP1	4035	broad.mit.edu	37	chr12	57595294	57595294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagccgaggtgacctgcGcccccaaccagttccagtgc	8	5	10	18	2	0	1	0	1	0	0	1	2	1	1	7	1	4	1	7	1	1	1	rs149436792		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57595294G>A	ENST00000243077.3	+	66	10826	c.10360G>A	c.(10360-10362)Gcc>Acc	p.A3454T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3454	LDL-receptor class A 24.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	p.A3454T(1)		NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGTGACCTGCGCCCCCAACCA	0.607													A	57595294	G	A	57595294	3	1	364	1	0	0	0	0	1	0	0	0	9021	1087	38	1	10622	1	LRP1	12	57595294	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5395	57595294	76256601	9703	33205											
LRP1	4035	broad.mit.edu	37	chr12	57599399	57599399	+	Silent	SNP	C	C	T																															ctctgcaacaacaccaagggCggccacctctgcagctgcgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599399C>T	ENST00000243077.3	+	75	11995	c.11529C>T	c.(11527-11529)ggC>ggT	p.G3843G		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3843	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	ACACCAAGGGCGGCCACCTCT	0.617													T	57599399	C	T	57599399	2	4	364	1	0	0	0	0	0	0	0	1	9021	755	27	1		1	LRP1	12	57599399	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4105	57599399	76252496	9704	33206	90	2									
LRP1	4035	broad.mit.edu	37	chr12	57599408	57599408	+	Silent	SNP	C	C	A																															aacaccaagggcggccacctCtgcagctgcgctcggaactt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57599408C>A	ENST00000243077.3	+	75	12004	c.11538C>A	c.(11536-11538)ctC>ctA	p.L3846L		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3846	EGF-like 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCGGCCACCTCTGCAGCTGCG	0.627													A	57599408	C	A	57599408	2	1	364	1	0	0	0	0	0	0	0	1	9021	900	32	4		4	LRP1	12	57599408	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	57599408	76252487	9705	33207	90	2									
LRP1	4035	broad.mit.edu	37	chr12	57600483	57600483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcctaccacttccaacCgccaccggcgacagattgac	9	6	7	19	4	0	2	0	1	0	1	2	3	2	2	7	1	2	0	7	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57600483C>T	ENST00000243077.3	+	76	12284	c.11818C>T	c.(11818-11820)Cgc>Tgc	p.R3940C		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3940					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CACTTCCAACCGCCACCGGCG	0.617													T	57600483	C	T	57600483	3	4	364	1	0	0	0	0	1	0	0	0	9021	652	23	1	12120	1	LRP1	12	57600483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1075	57600483	76251412	9706	33208											
LRP1	4035	broad.mit.edu	37	chr12	57605281	57605281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcctgcagctgcacggatgGccgggtggcccccagctgtc	4	8	14	15	2	0	0	0	0	0	0	2	1	1	1	4	4	4	4	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57605281G>A	ENST00000243077.3	+	85	13569	c.13103G>A	c.(13102-13104)gGc>gAc	p.G4368D		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4368	EGF-like 21.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGCACGGATGGCCGGGTGGCC	0.647													A	57605281	G	A	57605281	3	1	364	1	0	0	0	0	1	0	0	0	9021	1203	42	2	13441	2	LRP1	12	57605281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4798	57605281	76246614	9707	33209											
NXPH4	11247	broad.mit.edu	37	chr12	57619494	57619494	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagaaggtgtgcccagaCtataacttccagagtgagca	12	8	12	9	0	0	4	0	1	0	3	1	4	1	4	2	1	4	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57619494C>T	ENST00000349394.5	+	2	1066	c.891C>T	c.(889-891)gaC>gaT	p.D297D		NM_007224.3	NP_009155.1	O95158	NXPH4_HUMAN	neurexophilin 4	297	V (Cys-rich).				neuropeptide signaling pathway	extracellular region				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)	10						TGTGCCCAGACTATAACTTCC	0.577													T	57619494	C	T	57619494	2	4	364	1	0	0	0	0	0	0	0	1	10869	564	20	2		2	NXPH4	12	57619494	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14213	57619494	76232401	9708	33210											
SHMT2	6472	broad.mit.edu	37	chr12	57627032	57627032	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggccgggagatcccttaCacatttgaggaccgaatcaa	12	8	10	11	2	1	2	1	1	0	1	2	5	2	3	3	3	1	0	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57627032C>T	ENST00000328923.3	+	8	1379	c.927C>T	c.(925-927)taC>taT	p.Y309Y	SHMT2_ENST00000557487.1_Silent_p.Y299Y|SHMT2_ENST00000553474.1_Silent_p.Y288Y|SHMT2_ENST00000449049.3_Silent_p.Y288Y|SHMT2_ENST00000393827.4_Silent_p.Y213Y|SHMT2_ENST00000414700.3_Silent_p.Y288Y	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	309						microtubule cytoskeleton|mitochondrial nucleoid	glycine hydroxymethyltransferase activity|methyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	AGATCCCTTACACATTTGAGG	0.567													T	57627032	C	T	57627032	2	4	364	1	0	0	0	0	0	0	0	1	14380	489	17	2		2	SHMT2	12	57627032	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7538	57627032	76224863	9709	33211											
INHBE	83729	broad.mit.edu	37	chr12	57849418	57849418	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctcctgtgggggctccaaActggcaccccaagcagaacg	9	5	11	16	1	0	1	0	0	0	1	2	1	2	1	5	3	3	3	5	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849418A>G	ENST00000266646.2	+	1	315	c.99A>G	c.(97-99)aaA>aaG	p.K33K	INHBE_ENST00000551553.1_Intron	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	33					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGGGCTCCAAACTGGCACCCC	0.612													G	57849418	A	G	57849418	2	3	364	1	0	0	0	0	0	0	0	1	7802	40	2	3		3	INHBE	12	57849418	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	222386	57849418	76002477	9710	33212											
INHBE	83729	broad.mit.edu	37	chr12	57849882	57849882	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctttcgggcagactccActtcagcctacagctccctg	6	11	8	16	1	2	1	1	0	1	1	5	1	4	1	3	1	3	2	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57849882A>G	ENST00000266646.2	+	2	520	c.304A>G	c.(304-306)Act>Gct	p.T102A	INHBE_ENST00000551553.1_3'UTR	NM_031479.3	NP_113667.1	P58166	INHBE_HUMAN	inhibin, beta E	102					growth	extracellular region	growth factor activity|hormone activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	15						GGCAGACTCCACTTCAGCCTA	0.582											OREG0021944	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	57849882	A	G	57849882	3	3	364	1	0	0	0	0	1	0	0	0	7802	159	6	3	310	3	INHBE	12	57849882	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	464	57849882	76002013	9711	33213											
GLI1	2735	broad.mit.edu	37	chr12	57861780	57861780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactctccactcaacagaagCcgtatgtatgtaagctccct	11	10	6	14	1	2	1	1	0	1	1	4	1	3	1	3	0	3	4	3	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57861780C>T	ENST00000228682.2	+	10	1172	c.1081C>T	c.(1081-1083)Ccg>Tcg	p.P361S	GLI1_ENST00000546141.1_Missense_Mutation_p.P320S|GLI1_ENST00000543426.1_Missense_Mutation_p.P233S	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	361					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TCAACAGAAGCCGTATGTATG	0.517													T	57861780	C	T	57861780	3	4	364	1	0	0	0	0	1	0	0	0	6493	739	26	2	1115	2	GLI1	12	57861780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11898	57861780	75990115	9712	33214											
ARHGAP9	64333	broad.mit.edu	37	chr12	57867416	57867416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggaggtaccgtagaGtgtcatggttgggctttggc	6	11	16	8	1	1	1	1	0	0	1	2	2	2	2	2	5	1	5	2	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867416G>T	ENST00000393797.2	-	20	2456	c.2264C>A	c.(2263-2265)aCt>aAt	p.T755N	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.T665N|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.T684N|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.T481N|ARHGAP9_ENST00000424809.2_Intron			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	684					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GTACCGTAGAGTGTCATGGTT	0.502													T	57867416	G	T	57867416	3	4	364	1	0	0	0	0	1	0	0	0	892	1029	36	4	209	4	ARHGAP9	12	57867416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5636	57867416	75984479	9713	33215											
ARHGAP9	64333	broad.mit.edu	37	chr12	57867954	57867954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtactgtccaaatctaaccGaccttctggagggagaagga	13	8	11	9	1	2	1	0	0	2	1	3	5	3	3	3	3	2	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57867954G>A	ENST00000393797.2	-	19	2251	c.2059C>T	c.(2059-2061)Cgg>Tgg	p.R687W	ARHGAP9_ENST00000393791.3_Missense_Mutation_p.R597W|ARHGAP9_ENST00000550288.1_Missense_Mutation_p.R676W|ARHGAP9_ENST00000356411.2_Missense_Mutation_p.R616W|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.R413W|ARHGAP9_ENST00000424809.2_Missense_Mutation_p.R597W			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	616	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			AAATCTAACCGACCTTCTGGA	0.517													A	57867954	G	A	57867954	3	1	364	1	0	0	0	0	1	0	0	0	892	1057	37	1	418	1	ARHGAP9	12	57867954	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538	57867954	75983941	9714	33216											
ARHGAP9	64333	broad.mit.edu	37	chr12	57872425	57872425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggctcagattgtcagtGctgacgctcctacacatttt	7	13	10	11	1	2	2	2	1	0	1	3	2	3	2	1	2	2	3	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57872425G>A	ENST00000393797.2	-	6	837	c.645C>T	c.(643-645)agC>agT	p.S215S	ARHGAP9_ENST00000393791.3_Silent_p.S144S|ARHGAP9_ENST00000550288.1_Silent_p.S223S|ARHGAP9_ENST00000356411.2_Silent_p.S144S|ARHGAP9_ENST00000424809.2_Silent_p.S144S			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	144	WW.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			GATTGTCAGTGCTGACGCTCC	0.592													A	57872425	G	A	57872425	2	1	364	1	0	0	0	0	0	0	0	1	892	1310	46	2		2	ARHGAP9	12	57872425	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4471	57872425	75979470	9715	33217											
MARS	4141	broad.mit.edu	37	chr12	57891945	57891945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttccttactaggttgcCtgtggctggagaaaggaatg	8	13	12	8	0	1	1	0	0	1	1	2	3	2	2	2	4	2	2	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891945C>A	ENST00000262027.5	+	8	910	c.776C>A	c.(775-777)cCt>cAt	p.P259H	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.P25H	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	259					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	ACTAGGTTGCCTGTGGCTGGA	0.517													A	57891945	C	A	57891945	3	1	364	1	0	0	0	0	1	0	0	0	9391	681	24	4	806	4	MARS	12	57891945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19520	57891945	75959950	9716	33218											
MARS	4141	broad.mit.edu	37	chr12	57891963	57891963	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgtggctggagaaaggaAtgtgctcatcaccagtgccc	9	8	13	11	0	2	1	2	0	0	1	2	3	2	2	3	3	2	2	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57891963A>C	ENST00000262027.5	+	8	928	c.794A>C	c.(793-795)aAt>aCt	p.N265T	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.N31T	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	265					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GGAGAAAGGAATGTGCTCATC	0.537													C	57891963	A	C	57891963	3	2	364	1	0	0	0	0	1	0	0	0	9391	101	4	5	824	5	MARS	12	57891963	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18	57891963	75959932	9717	33219											
MARS	4141	broad.mit.edu	37	chr12	57894244	57894244	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccttctgtggctatgAggaggctcggggtgaccagt	5	11	16	9	1	1	2	0	2	1	0	3	3	2	3	2	5	0	2	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57894244A>T	ENST00000262027.5	+	10	1366	c.1232A>T	c.(1231-1233)gAg>gTg	p.E411V	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.E177V	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	411					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TGTGGCTATGAGGAGGCTCGG	0.572													T	57894244	A	T	57894244	3	4	364	1	0	0	0	0	1	0	0	0	9391	304	11	5	1270	5	MARS	12	57894244	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2281	57894244	75957651	9718	33220											
MARS	4141	broad.mit.edu	37	chr12	57905572	57905572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcacccgttcttggcttcGggatggcctcaagccacgct	6	11	10	14	3	3	0	2	0	1	0	4	1	3	1	3	3	1	3	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57905572G>A	ENST00000262027.5	+	12	1594	c.1460G>A	c.(1459-1461)cGg>cAg	p.R487Q	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.R253Q	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	487					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	TCTTGGCTTCGGGATGGCCTC	0.512													A	57905572	G	A	57905572	3	1	364	1	0	0	0	0	1	0	0	0	9391	1116	39	1	1506	1	MARS	12	57905572	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11328	57905572	75946323	9719	33221											
MBD6	114785	broad.mit.edu	37	chr12	57919917	57919917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacccctagacggagccgtcCtcgggcccctgctcctgtcc	5	7	10	19	3	0	1	0	0	0	1	4	2	3	2	8	2	3	1	8	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57919917C>A	ENST00000355673.3	+	6	1522	c.1166C>A	c.(1165-1167)cCt>cAt	p.P389H	MBD6_ENST00000431731.2_Missense_Mutation_p.P389H	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	389	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CGGAGCCGTCCTCGGGCCCCT	0.622													A	57919917	C	A	57919917	3	1	364	1	0	0	0	0	1	0	0	0	9423	681	24	4	1180	4	MBD6	12	57919917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14345	57919917	75931978	9720	33222											
KIF5A	3798	broad.mit.edu	37	chr12	57969503	57969503	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggaagagtcctatgaCtccttgagcgatgagctggc	9	9	12	11	1	0	4	0	3	0	1	2	6	2	5	3	2	2	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:57969503C>T	ENST00000455537.2	+	17	2260	c.1986C>T	c.(1984-1986)gaC>gaT	p.D662D	KIF5A_ENST00000286452.5_Silent_p.D573D	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	662					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						AGTCCTATGACTCCTTGAGCG	0.532													T	57969503	C	T	57969503	2	4	364	1	0	0	0	0	0	0	0	1	8363	564	20	2		2	KIF5A	12	57969503	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49586	57969503	75882392	9721	33223											
SLC26A10	65012	broad.mit.edu	37	chr12	58016682	58016682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccctggcctccatccatGcagacaagtatagctacact	10	9	6	16	0	0	1	0	0	0	1	3	1	3	1	5	1	3	3	5	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016682G>A	ENST00000379218.2	+	6	1215	c.904G>A	c.(904-906)Gca>Aca	p.A302T	SLC26A10_ENST00000320442.4_Missense_Mutation_p.A302T			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	302						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTCCATCCATGCAGACAAGTA	0.562													A	58016682	G	A	58016682	3	1	364	1	0	0	0	0	1	0	0	0	14609	1319	46	2	926	2	SLC26A10	12	58016682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47179	58016682	75835213	9722	33224											
SLC26A10	65012	broad.mit.edu	37	chr12	58016897	58016897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccaccaccaatctactgGtggatgctggtgggaaaaca	11	8	12	10	0	1	0	0	0	1	0	1	2	1	2	3	5	3	1	3	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58016897G>A	ENST00000379218.2	+	7	1341	c.1030G>A	c.(1030-1032)Gtg>Atg	p.V344M	SLC26A10_ENST00000320442.4_Missense_Mutation_p.V344M			Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	344						integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CAATCTACTGGTGGATGCTGG	0.567													A	58016897	G	A	58016897	3	1	364	1	0	0	0	0	1	0	0	0	14609	1261	44	2	1056	2	SLC26A10	12	58016897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215	58016897	75834998	9723	33225											
B4GALNT1	2583	broad.mit.edu	37	chr12	58022541	58022541	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacgtaggggccactaacGcgctctggcttgtcgctgtc	5	10	12	14	4	1	0	0	0	1	0	4	0	2	0	2	3	1	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58022541G>A	ENST00000341156.4	-	8	1541	c.957C>T	c.(955-957)cgC>cgT	p.R319R	B4GALNT1_ENST00000418555.2_Silent_p.R264R|B4GALNT1_ENST00000449184.3_Silent_p.R286R	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	319					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			GGCCACTAACGCGCTCTGGCT	0.612													A	58022541	G	A	58022541	2	1	364	1	0	0	0	0	0	0	0	1	1271	1074	38	1		1	B4GALNT1	12	58022541	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5644	58022541	75829354	9724	33226											
B4GALNT1	2583	broad.mit.edu	37	chr12	58024986	58024986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctttcaagctggtacctcGacagaaaggcctggaactcc	10	10	9	12	1	2	1	1	0	1	1	4	3	3	2	3	3	3	2	3	3	4	3	rs141063083		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58024986G>A	ENST00000341156.4	-	3	964	c.380C>T	c.(379-381)tCg>tTg	p.S127L	B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Intron|B4GALNT1_ENST00000552350.1_Missense_Mutation_p.S127L|B4GALNT1_ENST00000449184.3_Missense_Mutation_p.S127L|B4GALNT1_ENST00000550764.1_Missense_Mutation_p.S127L	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	127					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGTACCTCGACAGAAAGGC	0.587													A	58024986	G	A	58024986	3	1	364	1	0	0	0	0	1	0	0	0	1271	1059	37	1	1257	1	B4GALNT1	12	58024986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2445	58024986	75826909	9725	33227											
AGAP2	116986	broad.mit.edu	37	chr12	58126751	58126751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccacccgaggggaggaagCactgatcctgtctgagggga	10	5	15	11	1	1	2	0	2	1	0	2	6	2	5	3	5	1	1	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58126751C>T	ENST00000257897.3	-	6	638	c.553G>A	c.(553-555)Gct>Act	p.A185T	AGAP2_ENST00000547588.1_Missense_Mutation_p.A521T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	521	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						GGGGAGGAAGCACTGATCCTG	0.552													T	58126751	C	T	58126751	3	4	364	1	0	0	0	0	1	0	0	0	368	710	25	2	2073	2	AGAP2	12	58126751	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101765	58126751	75725144	9726	33228											
AGAP2	116986	broad.mit.edu	37	chr12	58128172	58128172	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccatccaccaacatttctTtcttgtactgctcacctgtc	7	15	4	15	0	3	0	1	0	2	0	6	0	5	0	4	0	3	2	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58128172T>G	ENST00000257897.3	-	4	408	c.323A>C	c.(322-324)aAa>aCa	p.K108T	AGAP2_ENST00000547588.1_Missense_Mutation_p.K444T	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	444					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CAACATTTCTTTCTTGTACTG	0.542													G	58128172	T	G	58128172	3	3	364	1	0	0	0	0	1	0	0	0	368	1841	64	5	2311	5	AGAP2	12	58128172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1421	58128172	75723723	9727	33229											
TSPAN31	6302	broad.mit.edu	37	chr12	58139594	58139594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctggtgtccagcatcCacatcatcggcggagtcatt	7	11	12	11	2	3	0	2	0	1	0	6	1	5	1	2	4	1	1	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58139594C>A	ENST00000547992.1	+	2	262	c.130C>A	c.(130-132)Cac>Aac	p.H44N	TSPAN31_ENST00000547472.1_Intron|TSPAN31_ENST00000553221.1_3'UTR|TSPAN31_ENST00000257910.3_Missense_Mutation_p.H44N			Q12999	TSN31_HUMAN	tetraspanin 31	44					positive regulation of cell proliferation	integral to plasma membrane|membrane fraction				endometrium(1)|kidney(1)|lung(5)	7	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			GTCCAGCATCCACATCATCGG	0.537													A	58139594	C	A	58139594	3	1	364	1	0	0	0	0	1	0	0	0	16747	594	21	4	136	4	TSPAN31	12	58139594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11422	58139594	75712301	9728	33230											
CDK4	1019	broad.mit.edu	37	chr12	58145099	58145099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgatctcccggtcagttCgggatgtggcacagacgtcc	6	10	12	13	3	2	2	1	1	1	1	5	3	3	3	3	3	0	2	3	3	0	2	rs3211612		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58145099C>T	ENST00000257904.6	-	3	610	c.245G>A	c.(244-246)cGa>cAa	p.R82Q	CDK4_ENST00000312990.6_Missense_Mutation_p.R82Q|CDK4_ENST00000549606.1_Intron|CDK4_ENST00000540325.1_Intron|CDK4_ENST00000551888.1_5'UTR	NM_000075.3	NP_000066.1	P11802	CDK4_HUMAN	cyclin-dependent kinase 4	82	Protein kinase.		R -> Q (in dbSNP:rs3211612).		cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|positive regulation of fibroblast proliferation|regulation of gene expression|response to drug|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane	ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	21	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CCGGTCAGTTCGGGATGTGGC	0.532			Mis			melanoma			Hereditary Melanoma				T	58145099	C	T	58145099	3	4	364	1	0	0	0	0	1	0	0	0	3171	884	31	1	690	1	CDK4	12	58145099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5505	58145099	75706796	9729	33231											
CYP27B1	1594	broad.mit.edu	37	chr12	58160812	58160812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactctggaggcgtacttgaGggtctgggtcatggtctggt	5	12	16	8	1	4	1	1	1	3	0	4	2	4	2	0	6	1	1	0	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58160812G>T	ENST00000228606.4	-	1	222	c.13C>A	c.(13-15)Ctc>Atc	p.L5I		NM_000785.3	NP_000776.1	O15528	CP27B_HUMAN	cytochrome P450, family 27, subfamily B, polypeptide 1	5					bone mineralization|calcium ion homeostasis|calcium ion transport|decidualization|G1 to G0 transition|hormone biosynthetic process|negative regulation of calcidiol 1-monooxygenase activity|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of keratinocyte differentiation|positive regulation of vitamin D 24-hydroxylase activity|positive regulation of vitamin D receptor signaling pathway|regulation of bone mineralization|response to estrogen stimulus|response to interferon-gamma|response to lipopolysaccharide|response to tumor necrosis factor|response to vitamin D|vitamin D biosynthetic process|xenobiotic metabolic process	mitochondrial outer membrane	calcidiol 1-monooxygenase activity|electron carrier activity|heme binding			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|urinary_tract(1)	15	all_cancers(7;8.09e-80)|Lung NSC(6;2.26e-27)|all_lung(6;1.99e-25)|all_epithelial(6;3.62e-18)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;1.97e-113)|all cancers(5;1.54e-78)|BRCA - Breast invasive adenocarcinoma(9;0.0294)		Calcidiol(DB00146)|Calcitriol(DB00136)|Ergocalciferol(DB00153)	GCGTACTTGAGGGTCTGGGTC	0.592													T	58160812	G	T	58160812	3	4	364	1	0	0	0	0	1	0	0	0	4192	1000	35	4	1549	4	CYP27B1	12	58160812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15713	58160812	75691083	9730	33232											
AVIL	10677	broad.mit.edu	37	chr12	58193639	58193639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggtttttcaacagaactGctatagggtaatattttggc	10	16	9	6	0	2	1	1	0	1	1	2	1	2	1	0	3	3	3	0	3	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58193639G>A	ENST00000537081.1	-	18	2263	c.2264C>T	c.(2263-2265)gCa>gTa	p.A755V	AVIL_ENST00000257861.3_Missense_Mutation_p.A762V|TSFM_ENST00000548851.1_Intron|TSFM_ENST00000550559.1_Intron|TSFM_ENST00000543727.1_Intron			O75366	AVIL_HUMAN	advillin	762	HP.|Headpiece (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CAACAGAACTGCTATAGGGTA	0.453													A	58193639	G	A	58193639	3	1	364	1	0	0	0	0	1	0	0	0	1232	1319	46	2	182	2	AVIL	12	58193639	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32827	58193639	75658256	9731	33233											
AVIL	10677	broad.mit.edu	37	chr12	58201119	58201119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagagcatcctcacctcaaAgataactagcttccctttga	12	11	5	13	0	3	3	3	1	0	2	5	3	5	3	3	0	3	2	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201119A>G	ENST00000537081.1	-	12	1464	c.1465T>C	c.(1465-1467)Ttt>Ctt	p.F489L	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.F496L			O75366	AVIL_HUMAN	advillin	496	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					CTCACCTCAAAGATAACTAGC	0.517													G	58201119	A	G	58201119	3	3	364	1	0	0	0	0	1	0	0	0	1232	72	3	3	1005	3	AVIL	12	58201119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7480	58201119	75650776	9732	33234											
AVIL	10677	broad.mit.edu	37	chr12	58201166	58201166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgaagtggcgtggctccGttcccatcctgactcgaacc	7	9	10	15	3	0	2	0	2	0	0	4	3	3	2	5	2	1	2	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:58201166G>A	ENST00000537081.1	-	12	1417	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	TSFM_ENST00000548851.1_Intron|AVIL_ENST00000257861.3_Missense_Mutation_p.T480M			O75366	AVIL_HUMAN	advillin	480	Core (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					GCGTGGCTCCGTTCCCATCCT	0.537													A	58201166	G	A	58201166	3	1	364	1	0	0	0	0	1	0	0	0	1232	1145	40	1	1052	1	AVIL	12	58201166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47	58201166	75650729	9733	33235											
LRIG3	121227	broad.mit.edu	37	chr12	59276728	59276728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgggcacaactggcatttAcaaagctctgaaagttgttt	12	12	10	7	0	1	1	0	1	1	0	1	2	1	1	0	2	3	5	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59276728A>G	ENST00000320743.3	-	12	1689	c.1403T>C	c.(1402-1404)gTa>gCa	p.V468A	LRIG3_ENST00000379141.4_Missense_Mutation_p.V408A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	468	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ACTGGCATTTACAAAGCTCTG	0.453			T	ROS1	NSCLC								G	59276728	A	G	59276728	3	3	364	1	0	0	0	0	1	0	0	0	9016	391	14	3	1988	3	LRIG3	12	59276728	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1075562	59276728	74575167	9734	33236											
LRIG3	121227	broad.mit.edu	37	chr12	59307811	59307811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggtcccagatttggaatgGtctccaattcattgttgttc	7	16	9	9	0	2	1	1	0	1	1	5	2	3	2	2	3	0	2	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:59307811G>A	ENST00000320743.3	-	3	621	c.335C>T	c.(334-336)aCc>aTc	p.T112I	LRIG3_ENST00000379141.4_Missense_Mutation_p.T52I	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	112						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTTGGAATGGTCTCCAATTC	0.363			T	ROS1	NSCLC								A	59307811	G	A	59307811	3	1	364	1	0	0	0	0	1	0	0	0	9016	1261	44	2	3092	2	LRIG3	12	59307811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31083	59307811	74544084	9735	33237											
FAM19A2	338811	broad.mit.edu	37	chr12	62147416	62147416	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttaccctagttgttttgActttattcccagaggaacag	10	14	7	10	0	0	2	0	1	0	1	1	3	1	3	2	1	2	2	2	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62147416A>C	ENST00000416284.3	-	4	1955	c.371T>G	c.(370-372)gTc>gGc	p.V124G	FAM19A2_ENST00000551619.1_Missense_Mutation_p.V124G|FAM19A2_ENST00000551449.1_Intron|FAM19A2_ENST00000550003.1_Missense_Mutation_p.V27G	NM_178539.4	NP_848634.1	Q8N3H0	F19A2_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A2	124						cytoplasm				endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	15			GBM - Glioblastoma multiforme(1;0.00484)	GBM - Glioblastoma multiforme(3;0.02)		AGTTGTTTTGACTTTATTCCC	0.433													C	62147416	A	C	62147416	3	2	364	1	0	0	0	0	1	0	0	0	5579	275	10	5	32	5	FAM19A2	12	62147416	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2839605	62147416	71704479	9736	33238											
USP15	9958	broad.mit.edu	37	chr12	62688032	62688032	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagttgggacaaataccaGatgggagatcaaaatgtgta	16	8	12	5	0	1	2	1	0	0	2	1	5	1	3	1	2	1	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62688032G>T	ENST00000280377.5	+	2	220	c.162G>T	c.(160-162)caG>caT	p.Q54H	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000312635.6_Missense_Mutation_p.Q54H|USP15_ENST00000353364.3_Missense_Mutation_p.Q54H|USP15_ENST00000393654.3_Missense_Mutation_p.Q54H	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	54	DUSP.				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		ACAAATACCAGATGGGAGATC	0.358													T	62688032	G	T	62688032	3	4	364	1	0	0	0	0	1	0	0	0	17148	933	33	4	168	4	USP15	12	62688032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	540616	62688032	71163863	9737	33239											
USP15	9958	broad.mit.edu	37	chr12	62749132	62749132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaaaaactcaaattactGtcttccatcatataccgctt	13	14	4	10	1	3	1	2	1	1	0	4	1	4	1	2	0	3	1	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62749132G>A	ENST00000280377.5	+	8	849	c.791G>A	c.(790-792)tGt>tAt	p.C264Y	USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Missense_Mutation_p.C235Y|USP15_ENST00000393654.3_Missense_Mutation_p.C239Y	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	264					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TCAAATTACTGTCTTCCATCA	0.333													A	62749132	G	A	62749132	3	1	364	1	0	0	0	0	1	0	0	0	17148	1377	48	2	730	2	USP15	12	62749132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61100	62749132	71102763	9738	33240											
USP15	9958	broad.mit.edu	37	chr12	62783719	62783719	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttcttatggctgtaccaCgaaacaatactgaagacaaa	15	10	6	10	1	1	2	0	1	1	1	1	3	1	2	2	1	3	2	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62783719C>T	ENST00000280377.5	+	14	1853	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	USP15_ENST00000353364.3_Nonsense_Mutation_p.R570*|USP15_ENST00000393654.3_Nonsense_Mutation_p.R574*	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	599					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GGCTGTACCACGAAACAATAC	0.363													T	62783719	C	T	62783719	4	4	364	1	0	0	0	0	0	1	0	0	17148	528	19	1	1758	1	USP15	12	62783719	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34587	62783719	71068176	9739	33241											
USP15	9958	broad.mit.edu	37	chr12	62786882	62786882	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccacaaagaaattggatTtatggtccctgcctccagta	13	10	8	10	0	0	1	0	0	0	1	2	2	2	2	4	2	2	1	4	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62786882T>G	ENST00000280377.5	+	19	2528	c.2470T>G	c.(2470-2472)Tta>Gta	p.L824V	USP15_ENST00000353364.3_Missense_Mutation_p.L795V|USP15_ENST00000393654.3_Missense_Mutation_p.L799V	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	824					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		GAAATTGGATTTATGGTCCCT	0.378													G	62786882	T	G	62786882	3	3	364	1	0	0	0	0	1	0	0	0	17148	1838	64	5	2453	5	USP15	12	62786882	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3163	62786882	71065013	9740	33242											
MON2	23041	broad.mit.edu	37	chr12	62949858	62949858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctggaggtggcaatattCtcattcatcattcaagggac	11	12	10	8	0	5	0	4	0	2	0	6	2	5	2	0	4	0	1	0	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:62949858C>T	ENST00000393630.3	+	26	3689	c.3298C>T	c.(3298-3300)Ctc>Ttc	p.L1100F	MON2_ENST00000546600.1_Missense_Mutation_p.L1099F|MON2_ENST00000393632.2_Missense_Mutation_p.L1099F|MON2_ENST00000552738.1_Missense_Mutation_p.L1076F|MON2_ENST00000280379.6_Missense_Mutation_p.L1100F|MON2_ENST00000393629.2_Missense_Mutation_p.L1099F	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1100					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		TGGCAATATTCTCATTCATCA	0.418													T	62949858	C	T	62949858	3	4	364	1	0	0	0	0	1	0	0	0	9776	913	32	2	3393	2	MON2	12	62949858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162976	62949858	70902037	9741	33243											
PPM1H	57460	broad.mit.edu	37	chr12	63113990	63113990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctgtagagcatcttctttCcaagctcctttctctgtact	6	16	5	14	0	3	1	0	0	3	1	6	1	5	1	3	0	3	4	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:63113990C>T	ENST00000228705.6	-	6	1334	c.1034G>A	c.(1033-1035)gGa>gAa	p.G345E	PPM1H_ENST00000551214.1_5'UTR	NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	345	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CATCTTCTTTCCAAGCTCCTT	0.453													T	63113990	C	T	63113990	3	4	364	1	0	0	0	0	1	0	0	0	12423	855	30	2	530	2	PPM1H	12	63113990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164132	63113990	70737905	9742	33244											
TMEM5	10329	broad.mit.edu	37	chr12	64174847	64174847	+	Frame_Shift_Del	DEL	A	A	-																															gaatccttgggaaggagatgAaaaaaatgagcaacaacaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64174847delA	ENST00000261234.6	+	2	376	c.218delA	c.(217-219)gaafs	p.E73fs	TMEM5_ENST00000537373.1_5'UTR|TMEM5_ENST00000537982.1_3'UTR|RP11-415I12.3_ENST00000509615.2_RNA	NM_014254.1	NP_055069.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	73						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GAAGGAGATGAAAAAAATGAG	0.358													-	64174847	A	-	64174847	7	5	364	1	0	1	0	1	0	0	0	0	16274	246	9	0	224	0	TMEM5	12	64174847	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1060857	64174847	69677048	9743	33245											
TMEM5	10329	broad.mit.edu	37	chr12	64202637	64202637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcaactgtgggaatacatCtgtgcaccacggtgctcctc	8	10	11	12	1	1	0	0	0	1	0	3	1	2	1	2	3	4	3	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64202637C>T	ENST00000537373.1	+	6	1265	c.317C>T	c.(316-318)tCt>tTt	p.S106F	TMEM5_ENST00000261234.6_Missense_Mutation_p.S366F|TMEM5-AS1_ENST00000546214.1_RNA	NM_001278237.1	NP_001265166.1	Q9Y2B1	TMEM5_HUMAN	transmembrane protein 5	366						integral to plasma membrane				breast(1)|large_intestine(3)|liver(2)|lung(7)|prostate(1)|skin(1)	15		Myeloproliferative disorder(1001;0.0255)	BRCA - Breast invasive adenocarcinoma(9;0.0985)	GBM - Glioblastoma multiforme(28;9e-08)|BRCA - Breast invasive adenocarcinoma(357;0.000175)		GGGAATACATCTGTGCACCAC	0.478													T	64202637	C	T	64202637	3	4	364	1	0	0	0	0	1	0	0	0	16274	913	32	2	1119	2	TMEM5	12	64202637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27790	64202637	69649258	9744	33246											
SRGAP1	57522	broad.mit.edu	37	chr12	64502780	64502780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgcccaggtcggtcCttatagtgatgaggtacctc	7	13	11	10	1	0	3	0	3	0	0	3	3	1	3	3	3	2	1	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64502780C>A	ENST00000355086.3	+	16	2406	c.1882C>A	c.(1882-1884)Ctt>Att	p.L628I	RP11-196H14.4_ENST00000535806.1_RNA|SRGAP1_ENST00000543397.1_Missense_Mutation_p.L565I|SRGAP1_ENST00000357825.3_Missense_Mutation_p.L605I	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	628	Rho-GAP.				axon guidance	cytosol				breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		CAGGTCGGTCCTTATAGTGAT	0.463													A	64502780	C	A	64502780	3	1	364	1	0	0	0	0	1	0	0	0	15241	681	24	4	1944	4	SRGAP1	12	64502780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300143	64502780	69349115	9745	33247											
C12orf56	115749	broad.mit.edu	37	chr12	64661006	64661006	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgaaaaagttgaatggtaGgttgagtgatggggtaacac	14	10	14	3	0	0	4	0	4	0	0	0	4	0	4	0	4	1	4	0	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64661006G>T	ENST00000543942.2	-	13	2452	c.1826C>A	c.(1825-1827)cCt>cAt	p.P609H	C12orf56_ENST00000333722.5_Missense_Mutation_p.P449H|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	612										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		TTGAATGGTAGGTTGAGTGAT	0.333													T	64661006	G	T	64661006	3	4	364	1	0	0	0	0	1	0	0	0	1713	1000	35	4	46	4	C12orf56	12	64661006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158226	64661006	69190889	9746	33248											
C12orf56	115749	broad.mit.edu	37	chr12	64664353	64664353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttattcctaatatactcagCtagagtcctgctgtgccgca	9	13	8	11	1	1	1	1	0	0	1	3	1	3	1	3	0	4	4	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64664353C>A	ENST00000543942.2	-	12	2352	c.1726G>T	c.(1726-1728)Gct>Tct	p.A576S	C12orf56_ENST00000333722.5_Missense_Mutation_p.A416S|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	579										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		ATATACTCAGCTAGAGTCCTG	0.403													A	64664353	C	A	64664353	3	1	364	1	0	0	0	0	1	0	0	0	1713	797	28	4	150	4	C12orf56	12	64664353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3347	64664353	69187542	9747	33249											
C12orf56	115749	broad.mit.edu	37	chr12	64671501	64671501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gactaaagctgaatcagccaCcaactggatatcaaacacag	17	6	7	11	0	2	1	2	1	0	0	2	3	2	2	2	1	4	1	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64671501C>T	ENST00000543942.2	-	9	2019	c.1393G>A	c.(1393-1395)Gtg>Atg	p.V465M	C12orf56_ENST00000333722.5_Missense_Mutation_p.V305M|C12orf56_ENST00000536975.1_5'UTR|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	468										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GAATCAGCCACCAACTGGATA	0.368													T	64671501	C	T	64671501	3	4	364	1	0	0	0	0	1	0	0	0	1713	507	18	2	495	2	C12orf56	12	64671501	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7148	64671501	69180394	9748	33250											
C12orf56	115749	broad.mit.edu	37	chr12	64746765	64746765	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttttttcaaaacggttgaAgaatagatgatacgaatgtg	14	14	9	4	2	2	4	1	2	1	2	2	5	2	4	0	1	2	1	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64746765A>C	ENST00000543942.2	-	2	950	c.324T>G	c.(322-324)tcT>tcG	p.S108S	C12orf56_ENST00000333722.5_Silent_p.S108S|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	108										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		AAACGGTTGAAGAATAGATGA	0.338													C	64746765	A	C	64746765	2	2	364	1	0	0	0	0	0	0	0	1	1713	59	3	5		5	C12orf56	12	64746765	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75264	64746765	69105130	9749	33251											
XPOT	11260	broad.mit.edu	37	chr12	64825547	64825547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgctcaaagattgtgaaGcaaaagatctccaggagttc	15	10	9	7	0	2	3	1	1	1	2	4	4	2	4	1	1	2	3	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64825547G>A	ENST00000332707.5	+	18	2735	c.2206G>A	c.(2206-2208)Gca>Aca	p.A736T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	736	Necessary for tRNA-binding, cytoplasmic localization and nuclear export.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		AGATTGTGAAGCAAAAGATCT	0.413													A	64825547	G	A	64825547	3	1	364	1	0	0	0	0	1	0	0	0	17552	971	34	2	2272	2	XPOT	12	64825547	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78782	64825547	69026348	9750	33252											
TBK1	29110	broad.mit.edu	37	chr12	64853996	64853996	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatttatttgctatcaaaGtatttaataacataagcttc	14	17	5	5	0	1	1	1	1	0	0	2	1	1	1	0	0	3	3	0	0	7	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:64853996G>T	ENST00000331710.5	+	3	454	c.115G>T	c.(115-117)Gta>Tta	p.V39L		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	39	Protein kinase.				I-kappaB kinase/NF-kappaB cascade|innate immune response|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		TGCTATCAAAGTATTTAATAA	0.264													T	64853996	G	T	64853996	3	4	364	1	0	0	0	0	1	0	0	0	15737	1029	36	4	121	4	TBK1	12	64853996	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28449	64853996	68997899	9751	33253											
RASSF3	283349	broad.mit.edu	37	chr12	65085294	65085294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaacatccactctacctgCgtttggtagcagggcccaga	9	8	12	12	1	1	1	0	0	1	1	2	2	2	2	3	3	4	3	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65085294C>T	ENST00000542104.1	+	4	622	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	RASSF3_ENST00000336061.2_Missense_Mutation_p.R168C	NM_178169.3	NP_835463.1	Q86WH2	RASF3_HUMAN	Ras association (RalGDS/AF-6) domain family member 3	168	Ras-associating.				signal transduction	cytoplasm|microtubule	identical protein binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(2;0.00133)|LUAD - Lung adenocarcinoma(6;0.0665)|LUSC - Lung squamous cell carcinoma(43;0.132)	GBM - Glioblastoma multiforme(28;0.0611)		ACTCTACCTGCGTTTGGTAGC	0.443													T	65085294	C	T	65085294	3	4	364	1	0	0	0	0	1	0	0	0	13175	768	27	1	516	1	RASSF3	12	65085294	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	231298	65085294	68766601	9752	33254											
LEMD3	23592	broad.mit.edu	37	chr12	65564502	65564502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccgccacttactgacatgGactcaaccttggattcgtca	9	10	7	15	2	2	1	2	1	0	0	3	3	2	3	4	2	2	0	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65564502G>T	ENST00000308330.2	+	1	1152	c.1126G>T	c.(1126-1128)Gac>Tac	p.D376Y	LEMD3_ENST00000541171.1_Intron	NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	376					negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TACTGACATGGACTCAACCTT	0.527													T	65564502	G	T	65564502	3	4	364	1	0	0	0	0	1	0	0	0	8780	1174	41	4	1128	4	LEMD3	12	65564502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479208	65564502	68287393	9753	33255											
LEMD3	23592	broad.mit.edu	37	chr12	65639941	65639941	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attatttttatcttacaacaGggaaattggttacagtaaaa	16	15	6	4	0	1	0	0	0	1	0	1	1	1	1	0	2	3	2	0	2	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:65639941G>T	ENST00000308330.2	+	13	2598		c.e13-1			NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3						negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		TCTTACAACAGGGAAATTGGT	0.313													T	65639941	G	T	65639941	5	4	364	1	0	0	0	0	0	0	1	0	8780	1014	35	4	2622	4	LEMD3	12	65639941	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75439	65639941	68211954	9754	33256											
LLPH	84298	broad.mit.edu	37	chr12	66522867	66522867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatctttcttttccacttaCtccgtaagcttttagccatg	7	17	5	12	1	2	0	0	0	2	0	4	0	4	0	3	0	3	3	3	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66522867C>T	ENST00000266604.2	-	2	90	c.20G>A	c.(19-21)aGt>aAt	p.S7N	TMBIM4_ENST00000539652.1_3'UTR|LLPH_ENST00000446587.2_Missense_Mutation_p.S7N|TMBIM4_ENST00000556010.1_3'UTR	NM_032338.3	NP_115714.1	Q9BRT6	LLPH_HUMAN	LLP homolog, long-term synaptic facilitation (Aplysia)	7	Lys-rich.									central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|skin(1)	5						TTTCCACTTACTCCGTAAGCT	0.348													T	66522867	C	T	66522867	3	4	364	1	0	0	0	0	1	0	0	0	8896	565	20	2	377	2	LLPH	12	66522867	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	882926	66522867	67329028	9755	33257											
IRAK3	11213	broad.mit.edu	37	chr12	66638420	66638420	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagaagagtacatcagaCaggggaaactttccattaaa	16	8	9	8	0	1	3	1	0	0	3	2	4	2	4	2	2	3	1	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66638420C>T	ENST00000261233.4	+	9	1463	c.1042C>T	c.(1042-1044)Cag>Tag	p.Q348*	IRAK3_ENST00000457197.2_Nonsense_Mutation_p.Q287*	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	348	Protein kinase.				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GTACATCAGACAGGGGAAACT	0.428													T	66638420	C	T	66638420	4	4	364	1	0	0	0	0	0	1	0	0	7882	479	17	2	1076	2	IRAK3	12	66638420	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115553	66638420	67213475	9756	33258											
IRAK3	11213	broad.mit.edu	37	chr12	66641635	66641635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaataacaatttactaccttCtgatgaaggcctgaggatag	14	11	9	7	0	1	3	0	3	1	0	1	5	1	4	2	2	3	0	2	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641635C>T	ENST00000261233.4	+	12	1896	c.1475C>T	c.(1474-1476)tCt>tTt	p.S492F	IRAK3_ENST00000457197.2_Missense_Mutation_p.S431F	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	492					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		TTACTACCTTCTGATGAAGGC	0.428													T	66641635	C	T	66641635	3	4	364	1	0	0	0	0	1	0	0	0	7882	913	32	2	1521	2	IRAK3	12	66641635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3215	66641635	67210260	9757	33259											
IRAK3	11213	broad.mit.edu	37	chr12	66641677	66641677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgactcagaaaactcCttttgaatgcagccagtctg	13	10	8	10	0	2	4	1	2	1	2	3	4	3	4	2	0	3	1	2	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641677C>A	ENST00000261233.4	+	12	1938	c.1517C>A	c.(1516-1518)cCt>cAt	p.P506H	IRAK3_ENST00000457197.2_Missense_Mutation_p.P445H	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	506					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		CAGAAAACTCCTTTTGAATGC	0.418													A	66641677	C	A	66641677	3	1	364	1	0	0	0	0	1	0	0	0	7882	681	24	4	1563	4	IRAK3	12	66641677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42	66641677	67210218	9758	33260											
IRAK3	11213	broad.mit.edu	37	chr12	66641935	66641935	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggatgaatatgaacAgtacaaaaaagaataaattc	19	10	7	5	0	0	3	0	2	0	1	2	4	1	4	1	1	2	1	1	1	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66641935A>G	ENST00000261233.4	+	12	2196	c.1775A>G	c.(1774-1776)cAg>cGg	p.Q592R	IRAK3_ENST00000457197.2_Missense_Mutation_p.Q531R	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	592					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		GAATATGAACAGTACAAAAAA	0.418													G	66641935	A	G	66641935	3	3	364	1	0	0	0	0	1	0	0	0	7882	188	7	3	1821	3	IRAK3	12	66641935	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	258	66641935	67209960	9759	33261											
HELB	92797	broad.mit.edu	37	chr12	66703903	66703903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaacctgagaattcaagcGatgatgcattgaatgagagc	16	8	10	7	1	1	4	1	4	0	2	1	7	1	4	1	0	4	1	1	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66703903G>A	ENST00000247815.4	+	4	1254	c.1195G>A	c.(1195-1197)Gat>Aat	p.D399N		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	399					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	p.D399Y(1)|p.D399N(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GAATTCAAGCGATGATGCATT	0.413													A	66703903	G	A	66703903	3	1	364	1	0	0	0	0	1	0	0	0	7100	1058	37	1	1209	1	HELB	12	66703903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61968	66703903	67147992	9760	33262											
HELB	92797	broad.mit.edu	37	chr12	66725397	66725397	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacctgtggtgtgaatgAtgatgaaagtccaagcaaaa	17	8	11	5	0	0	5	0	4	0	1	1	5	1	5	2	1	2	1	2	1	7	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66725397A>G	ENST00000247815.4	+	12	3193	c.3134A>G	c.(3133-3135)gAt>gGt	p.D1045G		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	1045					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GGTGTGAATGATGATGAAAGT	0.373													G	66725397	A	G	66725397	3	3	364	1	0	0	0	0	1	0	0	0	7100	333	12	3	3180	3	HELB	12	66725397	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21494	66725397	67126498	9761	33263											
GRIP1	23426	broad.mit.edu	37	chr12	66859167	66859167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaggagttttggcaacttCgactagtagtggcccggatg	9	10	13	9	2	0	0	0	0	0	0	1	3	0	2	2	4	1	3	2	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:66859167C>T	ENST00000359742.4	-	8	1000	c.760G>A	c.(760-762)Gaa>Aaa	p.E254K	GRIP1_ENST00000398016.3_Missense_Mutation_p.E254K|GRIP1_ENST00000286445.7_Missense_Mutation_p.E254K			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	254	PDZ 3.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTGGCAACTTCGACTAGTAGT	0.408													T	66859167	C	T	66859167	3	4	364	1	0	0	0	0	1	0	0	0	6842	893	31	1	2538	1	GRIP1	12	66859167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133770	66859167	66992728	9762	33264											
CAND1	55832	broad.mit.edu	37	chr12	67675766	67675766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatgatagtgaaaggaaaGtagtgaaaatgattttgaag	18	11	12	0	0	0	6	0	6	0	0	0	7	0	7	0	1	0	1	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67675766G>T	ENST00000545606.1	+	2	582	c.145G>T	c.(145-147)Gta>Tta	p.V49L		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	49					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TGAAAGGAAAGTAGTGAAAAT	0.313													T	67675766	G	T	67675766	3	4	364	1	0	0	0	0	1	0	0	0	2641	1029	36	4	151	4	CAND1	12	67675766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	816599	67675766	66176129	9763	33265											
CAND1	55832	broad.mit.edu	37	chr12	67686508	67686508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaacttcgagacatttcaAgtattggtcttaaaacagta	16	12	6	7	1	2	1	1	0	1	1	3	2	2	1	0	1	3	2	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67686508A>G	ENST00000545606.1	+	3	756	c.319A>G	c.(319-321)Agt>Ggt	p.S107G		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	107					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		AGACATTTCAAGTATTGGTCT	0.368													G	67686508	A	G	67686508	3	3	364	1	0	0	0	0	1	0	0	0	2641	72	3	3	329	3	CAND1	12	67686508	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10742	67686508	66165387	9764	33266											
CAND1	55832	broad.mit.edu	37	chr12	67696122	67696122	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtgatgatgaatacagTgatgatgatgacatgagttg	13	11	15	2	0	0	8	0	8	0	0	0	9	0	9	0	1	1	1	0	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67696122T>C	ENST00000545606.1	+	8	1457	c.1020T>C	c.(1018-1020)agT>agC	p.S340S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	340	Asp-rich.				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		ATGAATACAGTGATGATGATG	0.368													C	67696122	T	C	67696122	2	2	364	1	0	0	0	0	0	0	0	1	2641	1693	59	3		3	CAND1	12	67696122	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9614	67696122	66155773	9765	33267											
CAND1	55832	broad.mit.edu	37	chr12	67703936	67703936	+	Frame_Shift_Del	DEL	A	A	-																															ttttttgctttaacaggtagAaatgggtccatttaaacata																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:67703936delA	ENST00000545606.1	+	13	3637	c.3200delA	c.(3199-3201)gaafs	p.E1067fs		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	1067					cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		TAACAGGTAGAAATGGGTCCA	0.358													-	67703936	A	-	67703936	7	5	364	1	0	1	0	1	0	0	0	0	2641	246	9	0	3250	0	CAND1	12	67703936	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	7814	67703936	66147959	9766	33268											
IL26	55801	broad.mit.edu	37	chr12	68619372	68619372	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctaatacttactggaatCgttgctttgagccatgctgc	9	13	9	10	1	0	1	0	1	0	0	1	2	0	2	2	1	7	3	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619372C>T	ENST00000229134.4	-	1	229	c.165G>A	c.(163-165)acG>acA	p.T55T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	55					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		TTACTGGAATCGTTGCTTTGA	0.408													T	68619372	C	T	68619372	2	4	364	1	0	0	0	0	0	0	0	1	7737	871	31	1		1	IL26	12	68619372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	915436	68619372	65232523	9767	33269											
IL26	55801	broad.mit.edu	37	chr12	68619407	68619407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctttgatatagagagCgtcaacagcttgggacaatg	11	11	12	7	1	1	2	1	1	0	1	1	4	1	3	0	1	5	3	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:68619407C>T	ENST00000229134.4	-	1	194	c.130G>A	c.(130-132)Gct>Act	p.A44T	IFNG-AS1_ENST00000536914.1_RNA	NM_018402.1	NP_060872.1	Q9NPH9	IL26_HUMAN	interleukin 26	44					cell-cell signaling|negative regulation of epithelial cell proliferation|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of JAK-STAT cascade|positive regulation of protein kinase B signaling cascade|positive regulation of stress-activated MAPK cascade|positive regulation of transcription from RNA polymerase II promoter	cytosol|extracellular space|soluble fraction	cytokine activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	12			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000515)		ATATAGAGAGCGTCAACAGCT	0.433													T	68619407	C	T	68619407	3	4	364	1	0	0	0	0	1	0	0	0	7737	768	27	1	405	1	IL26	12	68619407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35	68619407	65232488	9768	33270											
NUP107	57122	broad.mit.edu	37	chr12	69083346	69083346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgaaaattttggtaataCtacaccaagaaaccaggtta	18	10	7	6	0	0	3	0	1	0	2	0	3	0	3	2	2	3	2	2	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69083346C>A	ENST00000229179.4	+	3	466	c.134C>A	c.(133-135)aCt>aAt	p.T45N	NUP107_ENST00000539906.1_Missense_Mutation_p.L7I|NUP107_ENST00000378905.2_5'UTR	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	45					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTGGTAATACTACACCAAGA	0.328													A	69083346	C	A	69083346	3	1	364	1	0	0	0	0	1	0	0	0	10829	565	20	4	144	4	NUP107	12	69083346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	463939	69083346	64768549	9769	33271											
NUP107	57122	broad.mit.edu	37	chr12	69135688	69135688	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcatacgatattgcaCagtactggtcagtatcagga	11	12	9	9	1	3	0	3	0	0	0	3	2	3	1	0	2	4	4	0	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69135688C>T	ENST00000229179.4	+	27	2930	c.2598C>T	c.(2596-2598)caC>caT	p.H866H	NUP107_ENST00000539906.1_Silent_p.H837H|NUP107_ENST00000378905.2_Silent_p.H627H	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	866					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			CGATATTGCACAGTACTGGTC	0.413													T	69135688	C	T	69135688	2	4	364	1	0	0	0	0	0	0	0	1	10829	477	17	2		2	NUP107	12	69135688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52342	69135688	64716207	9770	33272											
MDM2	4193	broad.mit.edu	37	chr12	69210696	69210696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctaggagatttgtttggCgtgccaagcttctctgtgaa	7	15	11	8	1	2	2	0	1	2	1	3	3	2	2	1	2	2	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69210696C>T	ENST00000462284.1	+	4	581	c.279C>T	c.(277-279)ggC>ggT	p.G93G	MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Silent_p.G93G|MDM2_ENST00000350057.5_Silent_p.G62G|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000299252.4_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000258149.5_Silent_p.G87G	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	87	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			ATTTGTTTGGCGTGCCAAGCT	0.363			A		"sarcoma, glioma, colorectal, other"								T	69210696	C	T	69210696	2	4	364	1	0	0	0	0	0	0	0	1	9488	755	27	1		1	MDM2	12	69210696	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75008	69210696	64641199	9771	33273											
CPSF6	11052	broad.mit.edu	37	chr12	69650591	69650591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actccatgcaataaacagttCctgagtcaatttgaaatgca	15	11	6	9	0	1	2	1	2	0	0	3	2	3	2	2	0	3	3	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69650591C>T	ENST00000435070.2	+	4	599	c.489C>T	c.(487-489)ttC>ttT	p.F163F	CPSF6_ENST00000551516.1_Intron|CPSF6_ENST00000456847.3_Silent_p.F163F|CPSF6_ENST00000266679.8_Silent_p.F163F	NM_007007.2	NP_008938.2	Q16630	CPSF6_HUMAN	cleavage and polyadenylation specific factor 6, 68kDa	163					mRNA polyadenylation|protein tetramerization	mRNA cleavage factor complex|paraspeckles|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding			endometrium(1)|large_intestine(7)|lung(8)	16	all_epithelial(5;2.47e-36)|Lung NSC(4;1.1e-32)|all_lung(4;6.26e-31)|Breast(13;1.59e-06)|Esophageal squamous(21;0.187)		Epithelial(6;4.89e-17)|BRCA - Breast invasive adenocarcinoma(5;8.5e-10)|Lung(24;6.04e-05)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|LUSC - Lung squamous cell carcinoma(43;0.171)|Kidney(9;0.241)			ATAAACAGTTCCTGAGTCAAT	0.358													T	69650591	C	T	69650591	2	4	364	1	0	0	0	0	0	0	0	1	3860	854	30	2		2	CPSF6	12	69650591	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	439895	69650591	64201304	9772	33274											
FRS2	10818	broad.mit.edu	37	chr12	69964235	69964235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactacctctgcctgcgacGctatggctatgactcgaatc	8	10	9	14	3	1	1	0	1	1	0	3	3	1	1	2	1	3	3	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69964235G>A	ENST00000299293.2	+	7	701	c.191G>A	c.(190-192)cGc>cAc	p.R64H	FRS2_ENST00000550389.1_Missense_Mutation_p.R64H|FRS2_ENST00000549921.1_Missense_Mutation_p.R64H|FRS2_ENST00000397997.2_Missense_Mutation_p.R64H	NM_001278351.1|NM_006654.3	NP_001265280.1|NP_006645.3	Q8WU20	FRS2_HUMAN	fibroblast growth factor receptor substrate 2	64	IRS-type PTB.				activation of MAPKK activity|activation of phospholipase C activity|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|transmembrane receptor protein tyrosine phosphatase signaling pathway	endomembrane system|endosome|integral to plasma membrane|membrane fraction	fibroblast growth factor receptor binding|insulin receptor binding|phosphatase activator activity|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.94e-18)|Lung(24;9.68e-05)|OV - Ovarian serous cystadenocarcinoma(12;0.000984)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.0151)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TGCCTGCGACGCTATGGCTAT	0.403													A	69964235	G	A	69964235	3	1	364	1	0	0	0	0	1	0	0	0	6113	1087	38	1	197	1	FRS2	12	69964235	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	313644	69964235	63887660	9773	33275											
CCT2	10576	broad.mit.edu	37	chr12	69991024	69991024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcatgattggagaagaCaaactcattcacttttctgg	13	12	9	7	0	4	3	3	1	1	2	4	5	4	3	0	2	1	0	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:69991024C>T	ENST00000543146.2	+	11	1412	c.930C>T	c.(928-930)gaC>gaT	p.D310D	CCT2_ENST00000544368.2_Silent_p.D357D|CCT2_ENST00000299300.6_Silent_p.D357D	NM_001198842.1	NP_001185771.1	P78371	TCPB_HUMAN	chaperonin containing TCP1, subunit 2 (beta)	357					'de novo' posttranslational protein folding	nucleus	ATP binding|unfolded protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(1)	24	all_cancers(2;7.7e-106)|Breast(13;2.15e-06)|Esophageal squamous(21;0.187)		Epithelial(6;2.72e-18)|GBM - Glioblastoma multiforme(2;2.58e-10)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			TTGGAGAAGACAAACTCATTC	0.413													T	69991024	C	T	69991024	2	4	364	1	0	0	0	0	0	0	0	1	2983	477	17	2		2	CCT2	12	69991024	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26789	69991024	63860871	9774	33276											
RAB3IP	117177	broad.mit.edu	37	chr12	70149248	70149248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcttcacctacttctccGgaccttcttggtgtgtatga	5	16	8	12	1	3	1	1	1	2	0	4	2	3	2	3	2	2	2	3	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70149248G>A	ENST00000550536.1	+	2	565	c.108G>A	c.(106-108)ccG>ccA	p.P36P	RAB3IP_ENST00000247833.7_Silent_p.P20P|RAB3IP_ENST00000362025.5_Silent_p.P36P|RAB3IP_ENST00000483530.2_Silent_p.P20P|RAB3IP_ENST00000325555.9_5'UTR|RAB3IP_ENST00000378815.6_Silent_p.P20P	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	36					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			CTACTTCTCCGGACCTTCTTG	0.443													A	70149248	G	A	70149248	2	1	364	1	0	0	0	0	0	0	0	1	13026	1103	39	1		1	RAB3IP	12	70149248	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158224	70149248	63702647	9775	33277											
CNOT2	4848	broad.mit.edu	37	chr12	70724200	70724200	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagaagctcgccaagcataAtatgtatgccaaagcagcag	16	6	9	10	1	0	1	0	0	0	1	1	1	0	1	2	0	5	5	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70724200A>G	ENST00000229195.3	+	6	1099	c.520A>G	c.(520-522)Ata>Gta	p.I174V	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.I174V	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	174					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCCAAGCATAATATGTATGCC	0.453													G	70724200	A	G	70724200	3	3	364	1	0	0	0	0	1	0	0	0	3650	101	4	3	538	3	CNOT2	12	70724200	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	574952	70724200	63127695	9776	33278											
CNOT2	4848	broad.mit.edu	37	chr12	70726546	70726546	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactattttctatgtacccaGtatgtctggatttggaatga	11	16	8	6	0	2	1	0	1	2	0	2	3	2	3	1	2	2	2	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70726546G>T	ENST00000229195.3	+	7	1148		c.e7-1		CNOT2_ENST00000548230.1_Splice_Site|CNOT2_ENST00000418359.3_Splice_Site	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TATGTACCCAGTATGTCTGGA	0.318													T	70726546	G	T	70726546	5	4	364	1	0	0	0	0	0	0	1	0	3650	1043	36	4	591	4	CNOT2	12	70726546	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2346	70726546	63125349	9777	33279											
KCNMB4	27345	broad.mit.edu	37	chr12	70760564	70760564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggaagccgaggacaagaGcatccggctcggcttgtttc	9	7	13	12	4	0	1	0	0	0	1	3	4	1	3	2	4	2	4	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70760564G>A	ENST00000258111.4	+	1	509	c.50G>A	c.(49-51)aGc>aAc	p.S17N		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	17					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAGGACAAGAGCATCCGGCTC	0.672													A	70760564	G	A	70760564	3	1	364	1	0	0	0	0	1	0	0	0	8135	971	34	2	52	2	KCNMB4	12	70760564	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34018	70760564	63091331	9778	33280											
KCNMB4	27345	broad.mit.edu	37	chr12	70824314	70824314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgatgagattgtcctcctgCattgcttcctctggcccctg	5	14	9	13	0	1	2	0	2	1	1	4	3	4	2	5	1	2	2	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70824314C>T	ENST00000258111.4	+	3	973	c.514C>T	c.(514-516)Cat>Tat	p.H172Y		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	172					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TGTCCTCCTGCATTGCTTCCT	0.517													T	70824314	C	T	70824314	3	4	364	1	0	0	0	0	1	0	0	0	8135	710	25	2	524	2	KCNMB4	12	70824314	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63750	70824314	63027581	9779	33281											
PTPRB	5787	broad.mit.edu	37	chr12	70938360	70938361	+	Frame_Shift_Ins	INS	-	-	A																															ttcagtagtgatgggtaaagINSaaaaaaatgtgtctgaatag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70938360_70938361insA	ENST00000334414.6	-	22	5514_5515	c.5470_5471insT	c.(5470-5472)tctfs	p.S1824fs	PTPRB_ENST00000550857.1_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000550358.1_Frame_Shift_Ins_p.S1736fs|PTPRB_ENST00000538708.1_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000451516.2_Frame_Shift_Ins_p.S1516fs|PTPRB_ENST00000261266.5_Frame_Shift_Ins_p.S1606fs	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1606	Tyrosine-protein phosphatase.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GATGGGTAAAGAAAAAAATGTG	0.411													A	70938361	-	A	70938360	7	5	364	1	0	1	1	0	0	0	0	0	12884	942	33	0	1228	0	PTPRB	12	70938360	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	114046	70938360	62913535	9780	33282											
PTPRB	5787	broad.mit.edu	37	chr12	70981023	70981023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattggcatgtttgacaCgaagctggaggacagccagg	10	10	13	8	1	1	1	1	1	0	0	1	4	1	3	1	4	2	3	1	4	1	3	rs3960114		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70981023C>T	ENST00000334414.6	-	9	2119	c.2075G>A	c.(2074-2076)cGt>cAt	p.R692H	PTPRB_ENST00000538708.1_Missense_Mutation_p.R474H|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Missense_Mutation_p.R384H|PTPRB_ENST00000451516.2_Missense_Mutation_p.R384H|PTPRB_ENST00000551525.1_Missense_Mutation_p.R691H|PTPRB_ENST00000550358.1_Missense_Mutation_p.R692H|PTPRB_ENST00000261266.5_Missense_Mutation_p.R474H	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	474	Fibronectin type-III 8.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTTTGACACGAAGCTGGAG	0.463													T	70981023	C	T	70981023	3	4	364	1	0	0	0	0	1	0	0	0	12884	536	19	1	4676	1	PTPRB	12	70981023	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42663	70981023	62870872	9781	33283											
PTPRB	5787	broad.mit.edu	37	chr12	70989893	70989893	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaacagctgtgatggcaatAttgtatttactaccagcagt	13	12	9	7	0	0	1	0	1	0	0	0	2	0	1	1	1	5	4	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:70989893A>G	ENST00000334414.6	-	5	1238	c.1194T>C	c.(1192-1194)aaT>aaC	p.N398N	PTPRB_ENST00000538708.1_Silent_p.N180N|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000550857.1_Silent_p.N180N|PTPRB_ENST00000451516.2_Silent_p.N180N|PTPRB_ENST00000551525.1_Silent_p.N397N|PTPRB_ENST00000550358.1_Silent_p.N398N|PTPRB_ENST00000261266.5_Silent_p.N180N	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	180	Fibronectin type-III 5.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGATGGCAATATTGTATTTAC	0.333													G	70989893	A	G	70989893	2	3	364	1	0	0	0	0	0	0	0	1	12884	446	16	3		3	PTPRB	12	70989893	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8870	70989893	62862002	9782	33284											
TSPAN8	7103	broad.mit.edu	37	chr12	71551452	71551452	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatacaggcactcacacCtgccatttcggaaaaggatt	12	12	7	10	1	1	0	1	0	0	0	2	2	1	2	2	3	2	1	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71551452C>A	ENST00000393330.2	-	5	559	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	TSPAN8_ENST00000247829.3_Missense_Mutation_p.G3C|TSPAN8_ENST00000546561.1_Missense_Mutation_p.G3C|TSPAN8_ENST00000552786.1_5'UTR			P19075	TSN8_HUMAN	tetraspanin 8	3					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			GCACTCACACCTGCCATTTCG	0.393													A	71551452	C	A	71551452	3	1	364	1	0	0	0	0	1	0	0	0	16754	681	24	4	738	4	TSPAN8	12	71551452	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561559	71551452	62300443	9783	33285											
LGR5	8549	broad.mit.edu	37	chr12	71918256	71918256	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctttacagtcttaaagttCtgtaagtaaactgagtgttg	11	15	9	6	0	2	1	0	1	2	0	2	1	2	1	1	0	2	4	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71918256C>T	ENST00000266674.5	+	3	666	c.355C>T	c.(355-357)Ctt>Ttt	p.L119F	LGR5_ENST00000536515.1_Splice_Site_p.L119F|LGR5_ENST00000540815.2_Splice_Site_p.L119F			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	119						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TCTTAAAGTTCTGTAAGTAAA	0.393													T	71918256	C	T	71918256	5	4	364	1	0	0	0	0	0	0	1	0	8817	927	32	2	365	2	LGR5	12	71918256	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	366804	71918256	61933639	9784	33286											
LGR5	8549	broad.mit.edu	37	chr12	71977622	71977622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcacgggagtctccagtgCcgtgctggctggtgtggatg	4	10	17	10	2	2	0	1	0	1	0	3	2	2	2	2	4	2	3	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71977622C>A	ENST00000266674.5	+	18	2143	c.1832C>A	c.(1831-1833)gCc>gAc	p.A611D	RP11-186F10.2_ENST00000546601.1_RNA|LGR5_ENST00000536515.1_Missense_Mutation_p.A539D|LGR5_ENST00000540815.2_Missense_Mutation_p.A587D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	611						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTCTCCAGTGCCGTGCTGGCT	0.512													A	71977622	C	A	71977622	3	1	364	1	0	0	0	0	1	0	0	0	8817	739	26	4	1902	4	LGR5	12	71977622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59366	71977622	61874273	9785	33287											
LGR5	8549	broad.mit.edu	37	chr12	71978482	71978482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgactgagagctgccatCtttcctctgtggcatttgtc	6	14	10	11	0	2	2	0	2	2	1	4	3	3	2	2	1	2	2	2	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:71978482C>A	ENST00000266674.5	+	18	3003	c.2692C>A	c.(2692-2694)Ctt>Att	p.L898I	LGR5_ENST00000536515.1_Missense_Mutation_p.L826I|LGR5_ENST00000540815.2_Missense_Mutation_p.L874I			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	898						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GAGCTGCCATCTTTCCTCTGT	0.443													A	71978482	C	A	71978482	3	1	364	1	0	0	0	0	1	0	0	0	8817	913	32	4	2762	4	LGR5	12	71978482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	860	71978482	61873413	9786	33288											
ZFC3H1	196441	broad.mit.edu	37	chr12	72024615	72024615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcaccattgacaatcaTcatcattacatgttcctgtt	11	15	3	12	0	4	1	4	1	0	0	5	1	5	1	2	0	2	2	2	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72024615T>C	ENST00000378743.3	-	17	3948	c.3590A>G	c.(3589-3591)gAt>gGt	p.D1197G		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	1197					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TTGACAATCATCATCATTACA	0.333													C	72024615	T	C	72024615	3	2	364	1	0	0	0	0	1	0	0	0	17734	1435	50	3	2455	3	ZFC3H1	12	72024615	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46133	72024615	61827280	9787	33289											
ZFC3H1	196441	broad.mit.edu	37	chr12	72027072	72027072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagcttcttcaaaaacattCtgttaacattaagaattttt	15	16	4	6	0	3	1	1	0	2	1	3	2	3	1	0	0	3	2	0	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72027072C>T	ENST00000378743.3	-	13	3015	c.2657G>A	c.(2656-2658)aGa>aAa	p.R886K		NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	886					RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CAAAAACATTCTGTTAACATT	0.299													T	72027072	C	T	72027072	3	4	364	1	0	0	0	0	1	0	0	0	17734	913	32	2	3404	2	ZFC3H1	12	72027072	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2457	72027072	61824823	9788	33290											
ZFC3H1	196441	broad.mit.edu	37	chr12	72057179	72057179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggacgatgacgaggaagagCcaccgcctccgccagatcca	12	3	12	14	4	0	3	0	1	0	2	2	7	2	5	6	2	1	0	6	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72057179C>A	ENST00000378743.3	-	1	570	c.212G>T	c.(211-213)gGc>gTc	p.G71V	ZFC3H1_ENST00000548100.1_Missense_Mutation_p.G71V|ZFC3H1_ENST00000552037.1_Missense_Mutation_p.G71V|THAP2_ENST00000308086.2_5'UTR	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	71	Ser-rich.				RNA processing	intracellular	metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CGAGGAAGAGCCACCGCCTCC	0.682											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	72057179	C	A	72057179	3	1	364	1	0	0	0	0	1	0	0	0	17734	739	26	4	5897	4	ZFC3H1	12	72057179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30107	72057179	61794716	9789	33291											
TMEM19	55266	broad.mit.edu	37	chr12	72092916	72092916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattccttcattcttgcaaCttattggtatgttaaagaaa	13	16	5	7	0	2	1	1	0	1	1	3	1	3	1	1	1	2	3	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72092916C>A	ENST00000549735.1	+	5	1059	c.874C>A	c.(874-876)Ctt>Att	p.L292I	TMEM19_ENST00000266673.5_Intron			Q96HH6	TMM19_HUMAN	transmembrane protein 19	0						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATTCTTGCAACTTATTGGTAT	0.363													A	72092916	C	A	72092916	3	1	364	1	0	0	0	0	1	0	0	0	16213	580	20	4		4	TMEM19	12	72092916	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35737	72092916	61758979	9790	33292											
TBC1D15	64786	broad.mit.edu	37	chr12	72265893	72265893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatattcactcatcttgtgGaaagaccaatgaccaagacg	15	10	7	9	1	3	3	2	1	1	2	3	4	3	4	2	1	0	0	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72265893G>T	ENST00000550746.1	+	2	138	c.74G>T	c.(73-75)gGa>gTa	p.G25V	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.G25V|TBC1D15_ENST00000319106.8_Missense_Mutation_p.G33V	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	25							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATCTTGTGGAAAGACCAAT	0.274													T	72265893	G	T	72265893	3	4	364	1	0	0	0	0	1	0	0	0	15701	1174	41	4	204	4	TBC1D15	12	72265893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172977	72265893	61586002	9791	33293											
TBC1D15	64786	broad.mit.edu	37	chr12	72274292	72274292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcaggccccaaaagaaaGaggtcatcgaggatcagaac	16	4	11	10	1	3	3	3	0	0	3	4	6	3	4	2	3	1	0	2	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72274292G>A	ENST00000550746.1	+	4	312	c.248G>A	c.(247-249)aGa>aAa	p.R83K	TBC1D15_ENST00000393309.3_5'UTR|TBC1D15_ENST00000485960.2_Missense_Mutation_p.R83K|TBC1D15_ENST00000319106.8_Missense_Mutation_p.R91K	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	83							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAAAAGAAAGAGGTCATCGA	0.338													A	72274292	G	A	72274292	3	1	364	1	0	0	0	0	1	0	0	0	15701	942	33	2	386	2	TBC1D15	12	72274292	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8399	72274292	61577603	9792	33294											
TBC1D15	64786	broad.mit.edu	37	chr12	72278787	72278787	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgaatctcttgaaaaataTgtggtattgtgtgagtaagt	13	16	10	2	0	1	3	0	3	1	0	2	3	1	3	0	1	0	2	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72278787T>C	ENST00000550746.1	+	5	604	c.540T>C	c.(538-540)taT>taC	p.Y180Y	TBC1D15_ENST00000393309.3_Intron|TBC1D15_ENST00000485960.2_Silent_p.Y180Y|TBC1D15_ENST00000319106.8_Silent_p.Y188Y	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	180							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TTGAAAAATATGTGGTATTGT	0.353													C	72278787	T	C	72278787	2	2	364	1	0	0	0	0	0	0	0	1	15701	1471	51	3		3	TBC1D15	12	72278787	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4495	72278787	61573108	9793	33295											
TBC1D15	64786	broad.mit.edu	37	chr12	72314627	72314627	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcaatgaaatacttaaGgtagttattcctttaattca	13	16	6	6	0	2	1	2	1	0	0	3	1	3	1	1	2	1	3	1	2	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72314627G>T	ENST00000550746.1	+	16	1831	c.1767G>T	c.(1765-1767)aaG>aaT	p.K589N	TBC1D15_ENST00000393309.3_Splice_Site_p.K343N|TBC1D15_ENST00000485960.2_Splice_Site_p.K572N|TBC1D15_ENST00000319106.8_Splice_Site_p.K580N	NM_001146213.1|NM_022771.4	NP_001139685.2|NP_073608.4	Q8TC07	TBC15_HUMAN	TBC1 domain family, member 15	589							protein binding|Rab GTPase activator activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						AAATACTTAAGGTAGTTATTC	0.333													T	72314627	G	T	72314627	5	4	364	1	0	0	0	0	0	0	1	0	15701	1014	35	4	1953	4	TBC1D15	12	72314627	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35840	72314627	61537268	9794	33296											
TPH2	121278	broad.mit.edu	37	chr12	72425324	72425324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcaaagtcaattacccGtcccttctcagtatacttca	10	14	4	13	1	3	0	3	0	1	0	5	0	4	0	2	0	3	2	2	0	5	6	rs120074175		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72425324G>A	ENST00000333850.3	+	11	1463	c.1322G>A	c.(1321-1323)cGt>cAt	p.R441H		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	441			R -> H (may be due to a rare RNA editing event; functional polymorphism linked with susceptibility to major depressive disorder; 80% loss of function; decreases solubility; decreases thermal stability; reduces catalytic activity).		aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	TCAATTACCCGTCCCTTCTCA	0.418													A	72425324	G	A	72425324	3	1	364	1	0	0	0	0	1	0	0	0	16503	1145	40	1	1364	1	TPH2	12	72425324	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110697	72425324	61426571	9795	33297											
TRHDE	29953	broad.mit.edu	37	chr12	72863578	72863578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgtatgctgctatggaGaactggggactaagtatttt	10	13	11	7	1	0	1	0	0	0	1	1	3	1	2	1	3	3	4	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863578G>T	ENST00000261180.4	+	4	1317	c.1221G>T	c.(1219-1221)gaG>gaT	p.E407D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	407	Substrate binding (By similarity).				cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGCTATGGAGAACTGGGGAC	0.373													T	72863578	G	T	72863578	3	4	364	1	0	0	0	0	1	0	0	0	16580	933	33	4	1235	4	TRHDE	12	72863578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	438254	72863578	60988317	9796	33298											
TRHDE	29953	broad.mit.edu	37	chr12	72863628	72863628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatactgctggatcccaGtgtttcatctatttcttatt	10	17	6	8	0	3	1	1	0	2	1	4	2	4	2	1	1	2	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:72863628G>T	ENST00000261180.4	+	4	1367	c.1271G>T	c.(1270-1272)aGt>aTt	p.S424I		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	424					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						CTGGATCCCAGTGTTTCATCT	0.383													T	72863628	G	T	72863628	3	4	364	1	0	0	0	0	1	0	0	0	16580	1029	36	4	1285	4	TRHDE	12	72863628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	72863628	60988267	9797	33299											
TRHDE	29953	broad.mit.edu	37	chr12	73012803	73012803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttactggaccgcatggaaaaCtacaacattttcaatgtaaa	16	11	6	8	1	1	0	1	0	0	0	1	2	1	2	1	2	4	2	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:73012803C>A	ENST00000261180.4	+	13	2415	c.2319C>A	c.(2317-2319)aaC>aaA	p.N773K		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	773					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCATGGAAAACTACAACATTT	0.333													A	73012803	C	A	73012803	3	1	364	1	0	0	0	0	1	0	0	0	16580	564	20	4	2369	4	TRHDE	12	73012803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149175	73012803	60839092	9798	33300											
KCNC2	3747	broad.mit.edu	37	chr12	75441976	75441976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacacgtgtaatcacctgtCgtcagtaggaaacatgtttc	11	11	9	10	2	2	0	2	0	0	0	4	1	2	1	1	1	1	4	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75441976C>T	ENST00000549446.1	-	4	2417	c.1737G>A	c.(1735-1737)acG>acA	p.T579T	KCNC2_ENST00000341669.3_Silent_p.T579T|KCNC2_ENST00000393288.2_Silent_p.T579T|KCNC2_ENST00000550433.1_Silent_p.T579T|KCNC2_ENST00000298972.1_Silent_p.T579T|KCNC2_ENST00000350228.2_Intron|KCNC2_ENST00000540018.1_Intron|KCNC2_ENST00000548513.1_Silent_p.T579T	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	579					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						AATCACCTGTCGTCAGTAGGA	0.468													T	75441976	C	T	75441976	2	4	364	1	0	0	0	0	0	0	0	1	8073	871	31	1		1	KCNC2	12	75441976	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2429173	75441976	58409919	9799	33301											
KCNC2	3747	broad.mit.edu	37	chr12	75445001	75445001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgccattgatgactggttCtgtcttgtttttaacaatat	8	19	8	6	0	2	2	0	2	2	0	2	2	2	2	1	1	2	2	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75445001C>T	ENST00000549446.1	-	3	1464	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	KCNC2_ENST00000341669.3_Missense_Mutation_p.E262K|KCNC2_ENST00000393288.2_Missense_Mutation_p.E262K|KCNC2_ENST00000550433.1_Missense_Mutation_p.E262K|KCNC2_ENST00000298972.1_Missense_Mutation_p.E262K|KCNC2_ENST00000350228.2_Missense_Mutation_p.E262K|KCNC2_ENST00000540018.1_Missense_Mutation_p.E262K|KCNC2_ENST00000548513.1_Missense_Mutation_p.E262K	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	262					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						ATGACTGGTTCTGTCTTGTTT	0.368													T	75445001	C	T	75445001	3	4	364	1	0	0	0	0	1	0	0	0	8073	922	32	2	1210	2	KCNC2	12	75445001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3025	75445001	58406894	9800	33302											
GLIPR1	11010	broad.mit.edu	37	chr12	75875739	75875739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttcactgggagagaacatCtggactgggtctgtgcccat	9	10	12	10	0	3	1	1	0	2	1	3	4	3	3	1	3	2	0	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75875739C>T	ENST00000266659.3	+	2	501	c.300C>T	c.(298-300)atC>atT	p.I100I		NM_006851.2	NP_006842.2	P48060	GLIP1_HUMAN	GLI pathogenesis-related 1	100					cellular lipid metabolic process	extracellular region|integral to membrane				endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	14						GAGAGAACATCTGGACTGGGT	0.473													T	75875739	C	T	75875739	2	4	364	1	0	0	0	0	0	0	0	1	6497	903	32	2		2	GLIPR1	12	75875739	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	430738	75875739	57976156	9801	33303											
KRR1	11103	broad.mit.edu	37	chr12	75897696	75897696	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactaacctgactttctggTtgtggtggtgggaatggcgt	6	14	15	6	1	1	1	0	1	1	0	1	2	1	2	1	5	2	2	1	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897696T>A	ENST00000229214.4	-	7	842	c.819A>T	c.(817-819)caA>caT	p.Q273H	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	273	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						GACTTTCTGGTTGTGGTGGTG	0.338													A	75897696	T	A	75897696	3	1	364	1	0	0	0	0	1	0	0	0	8504	1722	60	5	342	5	KRR1	12	75897696	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21957	75897696	57954199	9802	33304											
KRR1	11103	broad.mit.edu	37	chr12	75897758	75897758	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctttggttccttgcgttTattcacatttttgtgtttga	4	24	7	6	1	2	1	1	1	1	0	3	1	3	1	1	1	1	3	1	1	1	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:75897758T>C	ENST00000229214.4	-	7	780	c.757A>G	c.(757-759)Aaa>Gaa	p.K253E	KRR1_ENST00000438169.2_Intron	NM_007043.6	NP_008974.5	Q13601	KRR1_HUMAN	KRR1, small subunit (SSU) processome component, homolog (yeast)	253	Lys-rich.				rRNA processing	nucleolus|ribonucleoprotein complex	RNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(1)	11						TCCTTGCGTTTATTCACATTT	0.353													C	75897758	T	C	75897758	3	2	364	1	0	0	0	0	1	0	0	0	8504	1763	61	3	404	3	KRR1	12	75897758	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62	75897758	57954137	9803	33305											
BBS10	79738	broad.mit.edu	37	chr12	76740150	76740150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaattgttcttgagtaatgGttcataataatcagttagcc	12	15	9	5	0	3	1	2	1	1	0	3	2	3	2	1	2	1	4	1	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:76740150G>A	ENST00000393262.3	-	2	1698	c.1615C>T	c.(1615-1617)Cca>Tca	p.P539S		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	539			P -> L (in dbSNP:rs35676114).		cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						TTGAGTAATGGTTCATAATAA	0.358									Bardet-Biedl syndrome				A	76740150	G	A	76740150	3	1	364	1	0	0	0	0	1	0	0	0	1341	1261	44	2	560	2	BBS10	12	76740150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	842392	76740150	57111745	9804	33306											
ZDHHC17	23390	broad.mit.edu	37	chr12	77220687	77220687	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taattttttgtttctatacaGgaatttcggcagaaagtaat	13	17	7	4	1	1	1	0	0	1	1	2	2	1	2	0	2	1	3	0	2	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77220687G>T	ENST00000426126.2	+	9	1546		c.e9-1		ZDHHC17_ENST00000334822.5_Splice_Site	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17						lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						TTTCTATACAGGAATTTCGGC	0.358													T	77220687	G	T	77220687	5	4	364	1	0	0	0	0	0	0	1	0	17708	1014	35	4	931	4	ZDHHC17	12	77220687	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480537	77220687	56631208	9805	33307											
E2F7	144455	broad.mit.edu	37	chr12	77438524	77438524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacgaggaacagcatgacaAacttctggctcataattctc	14	9	8	10	1	3	2	1	1	2	1	4	4	3	3	0	2	3	2	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:77438524A>G	ENST00000322886.7	-	6	1116	c.881T>C	c.(880-882)tTt>tCt	p.F294S	E2F7_ENST00000416496.2_Missense_Mutation_p.F294S	NM_203394.2	NP_976328.2	Q96AV8	E2F7_HUMAN	E2F transcription factor 7	294					cell cycle	transcription factor complex	DNA binding|identical protein binding			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(15)|lung(14)|ovary(3)|upper_aerodigestive_tract(2)	42						CAGCATGACAAACTTCTGGCT	0.398													G	77438524	A	G	77438524	3	3	364	1	0	0	0	0	1	0	0	0	4911	14	1	3	1886	3	E2F7	12	77438524	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	217837	77438524	56413371	9806	33308											
NAV3	89795	broad.mit.edu	37	chr12	78513292	78513292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgccattggcgggaagTcaaatgcagggagaaaaacc	13	6	13	9	1	1	1	1	0	0	1	1	3	1	2	2	3	4	2	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513292T>C	ENST00000397909.2	+	15	3489	c.3316T>C	c.(3316-3318)Tca>Cca	p.S1106P	NAV3_ENST00000228327.6_Missense_Mutation_p.S1106P|NAV3_ENST00000536525.2_Missense_Mutation_p.S1106P|NAV3_ENST00000266692.7_Missense_Mutation_p.S1106P			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1106	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TGGCGGGAAGTCAAATGCAGG	0.478										HNSCC(70;0.22)			C	78513292	T	C	78513292	3	2	364	1	0	0	0	0	1	0	0	0	10261	1667	58	3	3374	3	NAV3	12	78513292	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1074768	78513292	55338603	9807	33309											
NAV3	89795	broad.mit.edu	37	chr12	78513689	78513689	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtctcaggcagccaggatCcaagtatccagatattgcct	11	9	10	11	0	1	1	1	0	1	1	4	2	3	2	4	3	2	2	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78513689C>A	ENST00000397909.2	+	15	3886	c.3713C>A	c.(3712-3714)tCc>tAc	p.S1238Y	NAV3_ENST00000228327.6_Missense_Mutation_p.S1238Y|NAV3_ENST00000536525.2_Missense_Mutation_p.S1238Y|NAV3_ENST00000266692.7_Missense_Mutation_p.S1238Y			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1238	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CAGCCAGGATCCAAGTATCCA	0.448										HNSCC(70;0.22)			A	78513689	C	A	78513689	3	1	364	1	0	0	0	0	1	0	0	0	10261	855	30	4	3771	4	NAV3	12	78513689	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	397	78513689	55338206	9808	33310											
NAV3	89795	broad.mit.edu	37	chr12	78516178	78516178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagagcctgctcatgagaaCgggtagtgtgagatctactc	10	9	12	10	1	2	3	1	2	1	3	3	5	2	3	2	1	4	2	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78516178C>T	ENST00000397909.2	+	16	4381	c.4208C>T	c.(4207-4209)aCg>aTg	p.T1403M	NAV3_ENST00000228327.6_Missense_Mutation_p.T1403M|NAV3_ENST00000536525.2_Missense_Mutation_p.T1403M|NAV3_ENST00000266692.7_Intron			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1403	Ser-rich.					nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.T1403M(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTCATGAGAACGGGTAGTGTG	0.552										HNSCC(70;0.22)			T	78516178	C	T	78516178	3	4	364	1	0	0	0	0	1	0	0	0	10261	536	19	1	4270	1	NAV3	12	78516178	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2489	78516178	55335717	9809	33311											
NAV3	89795	broad.mit.edu	37	chr12	78591117	78591117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaataattcttgataatCttcatcatgtgggctctctg	9	18	7	7	0	5	1	2	1	3	0	6	1	5	1	0	1	0	2	0	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78591117C>A	ENST00000397909.2	+	35	6555	c.6382C>A	c.(6382-6384)Ctt>Att	p.L2128I	NAV3_ENST00000228327.6_Missense_Mutation_p.L2106I|NAV3_ENST00000536525.2_Missense_Mutation_p.L2106I|NAV3_ENST00000266692.7_Missense_Mutation_p.L1929I			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2128						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity	p.L2106V(1)		NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TCTTGATAATCTTCATCATGT	0.333										HNSCC(70;0.22)			A	78591117	C	A	78591117	3	1	364	1	0	0	0	0	1	0	0	0	10261	913	32	4	6450	4	NAV3	12	78591117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74939	78591117	55260778	9810	33312											
NAV3	89795	broad.mit.edu	37	chr12	78593207	78593207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatagaaattgaaaggaAcattcgcaataatgacctag	19	8	9	5	1	0	4	0	2	0	2	1	6	0	5	1	1	1	1	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:78593207A>G	ENST00000397909.2	+	37	6784	c.6611A>G	c.(6610-6612)aAc>aGc	p.N2204S	NAV3_ENST00000228327.6_Missense_Mutation_p.N2182S|NAV3_ENST00000541270.1_Missense_Mutation_p.N34S|NAV3_ENST00000536525.2_Missense_Mutation_p.N2182S|NAV3_ENST00000266692.7_Missense_Mutation_p.N2005S			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2204						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ATTGAAAGGAACATTCGCAAT	0.368										HNSCC(70;0.22)			G	78593207	A	G	78593207	3	3	364	1	0	0	0	0	1	0	0	0	10261	43	2	3	6687	3	NAV3	12	78593207	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2090	78593207	55258688	9811	33313											
PPP1R12A	4659	broad.mit.edu	37	chr12	80199984	80199984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagaacccgttgtaatCtttgtagtagtgcttgtgct	9	14	12	6	1	1	1	0	0	1	1	1	3	1	2	1	1	3	6	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:80199984C>A	ENST00000450142.2	-	13	2051	c.1785G>T	c.(1783-1785)aaG>aaT	p.K595N	PPP1R12A_ENST00000550107.1_Intron|AC073569.1_ENST00000598624.1_Intron|PPP1R12A_ENST00000261207.5_Missense_Mutation_p.K595N|PPP1R12A_ENST00000437004.2_Missense_Mutation_p.K595N|PPP1R12A_ENST00000546369.1_Missense_Mutation_p.K508N	NM_002480.2	NP_002471.1	O14974	MYPT1_HUMAN	protein phosphatase 1, regulatory subunit 12A	595	Ser/Thr-rich.					contractile fiber	protein binding|signal transducer activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|liver(1)|lung(4)|ovary(2)|skin(1)	29						CCGTTGTAATCTTTGTAGTAG	0.453													A	80199984	C	A	80199984	3	1	364	1	0	0	0	0	1	0	0	0	12436	912	32	4	1359	4	PPP1R12A	12	80199984	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1606777	80199984	53651911	9812	33314											
MYF6	4618	broad.mit.edu	37	chr12	81101660	81101660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcccccggaagcggggagCgacagcagcggagaggaaca	12	1	17	11	4	0	1	0	0	0	1	0	6	0	4	2	5	6	1	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81101660C>T	ENST00000228641.3	+	1	384	c.162C>T	c.(160-162)agC>agT	p.S54S		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	54					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						AAGCGGGGAGCGACAGCAGCG	0.622													T	81101660	C	T	81101660	2	4	364	1	0	0	0	0	0	0	0	1	10104	767	27	1		1	MYF6	12	81101660	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	901676	81101660	52750235	9813	33315											
MYF5	4617	broad.mit.edu	37	chr12	81110945	81110945	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggacgagtttgtgccgCgagtggctgccttcggagcg	4	10	18	9	5	0	0	0	0	0	0	1	4	0	2	2	4	3	2	2	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81110945C>T	ENST00000228644.3	+	1	255	c.103C>T	c.(103-105)Cga>Tga	p.R35*		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	35					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GTTTGTGCCGCGAGTGGCTGC	0.622													T	81110945	C	T	81110945	4	4	364	1	0	0	0	0	0	1	0	0	10103	760	27	1	105	1	MYF5	12	81110945	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9285	81110945	52740950	9814	33316											
MYF5	4617	broad.mit.edu	37	chr12	81111033	81111033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctaccggccaccaccaggCtggtcactgcctcatgtggg	6	7	12	16	1	2	0	2	0	0	0	2	0	2	0	6	4	2	1	6	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81111033C>T	ENST00000228644.3	+	1	343	c.191C>T	c.(190-192)gCt>gTt	p.A64V		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	64					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CACCACCAGGCTGGTCACTGC	0.647													T	81111033	C	T	81111033	3	4	364	1	0	0	0	0	1	0	0	0	10103	797	28	2	193	2	MYF5	12	81111033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88	81111033	52740862	9815	33317											
ACSS3	79611	broad.mit.edu	37	chr12	81532987	81532987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaccacttgtagaagaagcGctaaaaataggacaacacaa	19	6	8	8	1	0	2	0	0	0	2	0	3	0	3	1	1	3	3	1	1	10	5	rs11114776	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81532987G>A	ENST00000548058.1	+	4	1633	c.723G>A	c.(721-723)gcG>gcA	p.A241A	ACSS3_ENST00000261206.3_Silent_p.A240A			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	241						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						TAGAAGAAGCGCTAAAAATAG	0.358													A	81532987	G	A	81532987	2	1	364	1	0	0	0	0	0	0	0	1	190	1074	38	1		1	ACSS3	12	81532987	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	421954	81532987	52318908	9816	33318											
PPFIA2	8499	broad.mit.edu	37	chr12	81676815	81676815	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttccttcctcagattCtttctgtgttagcagcagga	7	14	8	12	0	3	1	1	0	2	1	5	2	5	2	3	1	3	4	3	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:81676815C>A	ENST00000550584.2	-	25	3287	c.2992G>T	c.(2992-2994)Gaa>Taa	p.E998*	PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000443686.3_Nonsense_Mutation_p.E899*|PPFIA2_ENST00000550359.2_Nonsense_Mutation_p.E845*|PPFIA2_ENST00000549396.1_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000552948.1_Nonsense_Mutation_p.E977*|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Nonsense_Mutation_p.E998*|PPFIA2_ENST00000333447.7_Nonsense_Mutation_p.E983*|PPFIA2_ENST00000407050.4_Nonsense_Mutation_p.E903*|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000549325.1_Nonsense_Mutation_p.E983*	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	903										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTCAGATTCTTTCTGTGTT	0.318													A	81676815	C	A	81676815	4	1	364	1	0	0	0	0	0	1	0	0	12387	922	32	4	809	4	PPFIA2	12	81676815	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143828	81676815	52175080	9817	33319											
TMTC2	160335	broad.mit.edu	37	chr12	83251240	83251240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggggtcaggactgtgcGcaggatgcagcatgttgtgg	6	10	17	8	1	1	0	1	0	0	0	2	2	2	2	1	5	3	4	1	5	0	1	rs142358970		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83251240G>A	ENST00000549919.1	+	3	2322	c.517G>A	c.(517-519)Gca>Aca	p.A173T	TMTC2_ENST00000321196.3_Missense_Mutation_p.A179T|TMTC2_ENST00000548305.1_Missense_Mutation_p.A179T			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	179						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						AGGACTGTGCGCAGGATGCAG	0.473													A	83251240	G	A	83251240	3	1	364	1	0	0	0	0	1	0	0	0	16361	1087	38	1	541	1	TMTC2	12	83251240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1574425	83251240	50600655	9818	33320											
TMTC2	160335	broad.mit.edu	37	chr12	83290332	83290332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgctacagctacactaattGttttttatggactcaagact	12	15	6	8	0	1	1	1	0	0	1	1	2	1	2	0	1	4	3	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290332G>A	ENST00000549919.1	+	4	3177	c.1372G>A	c.(1372-1374)Gtt>Att	p.V458I	TMTC2_ENST00000321196.3_Missense_Mutation_p.V464I|TMTC2_ENST00000548305.1_Missense_Mutation_p.V464I			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	464						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TACACTAATTGTTTTTTATGG	0.408													A	83290332	G	A	83290332	3	1	364	1	0	0	0	0	1	0	0	0	16361	1377	48	2	1400	2	TMTC2	12	83290332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39092	83290332	50561563	9819	33321											
TMTC2	160335	broad.mit.edu	37	chr12	83290354	83290354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttatggactcaagactgCgatcaggaatggagactggc	11	11	12	7	1	2	2	2	0	0	2	2	6	2	4	0	4	1	0	0	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83290354C>T	ENST00000549919.1	+	4	3199	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	TMTC2_ENST00000321196.3_Missense_Mutation_p.A471V|TMTC2_ENST00000548305.1_Missense_Mutation_p.A471V			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	471						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTCAAGACTGCGATCAGGAAT	0.388													T	83290354	C	T	83290354	3	4	364	1	0	0	0	0	1	0	0	0	16361	768	27	1	1422	1	TMTC2	12	83290354	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22	83290354	50561541	9820	33322											
TMTC2	160335	broad.mit.edu	37	chr12	83526157	83526157	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaaggcttaaagactTctaagacctgacacaggagg	18	6	9	8	0	1	3	0	1	1	2	1	4	1	4	1	3	1	1	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:83526157T>C	ENST00000549919.1	+	13	4287	c.2482T>C	c.(2482-2484)Tct>Cct	p.S828P	TMTC2_ENST00000321196.3_Missense_Mutation_p.S834P			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	834						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CTTAAAGACTTCTAAGACCTG	0.498													C	83526157	T	C	83526157	3	2	364	1	0	0	0	0	1	0	0	0	16361	1783	62	3	2546	3	TMTC2	12	83526157	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	235803	83526157	50325738	9821	33323											
SLC6A15	55117	broad.mit.edu	37	chr12	85257248	85257248	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgcgttatagccaggAggacttaatcccatattcac	12	11	7	11	1	1	0	1	0	0	0	3	2	3	2	3	2	2	1	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85257248A>T	ENST00000266682.5	-	11	2329	c.1788T>A	c.(1786-1788)ccT>ccA	p.P596P	SLC6A15_ENST00000552192.1_Silent_p.P489P|SLC6A15_ENST00000309283.7_Silent_p.P304P	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	596					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						TATAGCCAGGAGGACTTAATC	0.308													T	85257248	A	T	85257248	2	4	364	1	0	0	0	0	0	0	0	1	14772	291	11	5		5	SLC6A15	12	85257248	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1731091	85257248	48594647	9822	33324											
TSPAN19	144448	broad.mit.edu	37	chr12	85413440	85413440	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagaatagtccacttggTtatatcttcaggcttatctt	10	17	6	8	0	4	1	2	0	2	1	5	1	5	1	1	2	0	2	1	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85413440T>A	ENST00000532498.2	-	6	495	c.415A>T	c.(415-417)Acc>Tcc	p.T139S	TSPAN19_ENST00000547403.2_5'UTR	NM_001100917.1	NP_001094387.1	P0C672	TSN19_HUMAN	tetraspanin 19	139						integral to membrane				ovary(1)	1						GTCCACTTGGTTATATCTTCA	0.323													A	85413440	T	A	85413440	3	1	364	1	0	0	0	0	1	0	0	0	16744	1725	60	5	347	5	TSPAN19	12	85413440	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	156192	85413440	48438455	9823	33325											
LRRIQ1	84125	broad.mit.edu	37	chr12	85449803	85449803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataataacaaacatttaaGtcttgaagatatttcaaatg	19	14	4	4	0	2	2	1	1	1	1	2	2	2	2	0	0	2	0	0	0	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85449803G>T	ENST00000393217.2	+	8	1293	c.1232G>T	c.(1231-1233)aGt>aTt	p.S411I		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	411										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAACATTTAAGTCTTGAAGAT	0.318													T	85449803	G	T	85449803	3	4	364	1	0	0	0	0	1	0	0	0	9099	1029	36	4	1258	4	LRRIQ1	12	85449803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36363	85449803	48402092	9824	33326											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450485	85450485	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaagaaatttattcaaaAtccaaagaaattgaggagaa	23	8	7	3	0	1	4	1	1	0	3	2	6	2	4	1	1	0	0	1	1	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450485A>G	ENST00000393217.2	+	8	1975	c.1914A>G	c.(1912-1914)aaA>aaG	p.K638K		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	638										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TTTATTCAAAATCCAAAGAAA	0.299													G	85450485	A	G	85450485	2	3	364	1	0	0	0	0	0	0	0	1	9099	98	4	3		3	LRRIQ1	12	85450485	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	682	85450485	48401410	9825	33327											
LRRIQ1	84125	broad.mit.edu	37	chr12	85450908	85450908	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccagccaacatgacaccCgctttggataaactggaaat	13	8	8	12	1	0	1	0	1	0	0	0	3	0	3	3	2	4	1	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85450908C>A	ENST00000393217.2	+	8	2398	c.2337C>A	c.(2335-2337)ccC>ccA	p.P779P		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	779										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ACATGACACCCGCTTTGGATA	0.328													A	85450908	C	A	85450908	2	1	364	1	0	0	0	0	0	0	0	1	9099	639	23	4		4	LRRIQ1	12	85450908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	423	85450908	48400987	9826	33328											
LRRIQ1	84125	broad.mit.edu	37	chr12	85546114	85546114	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcttcccttcacaaacActgcttctttcaaaccagct	10	11	3	17	1	3	0	2	0	1	0	4	0	4	0	3	0	4	3	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85546114A>G	ENST00000393217.2	+	20	4447	c.4386A>G	c.(4384-4386)acA>acG	p.T1462T		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1462										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		CTTCACAAACACTGCTTCTTT	0.393													G	85546114	A	G	85546114	2	3	364	1	0	0	0	0	0	0	0	1	9099	146	6	3		3	LRRIQ1	12	85546114	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	95206	85546114	48305781	9827	33329											
LRRIQ1	84125	broad.mit.edu	37	chr12	85638665	85638665	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaaaaatcaggcacaCagacactcagcaggatcttc	19	5	7	10	0	3	1	2	0	1	1	4	3	3	2	0	2	1	2	0	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85638665C>T	ENST00000393217.2	+	27	5176	c.5115C>T	c.(5113-5115)caC>caT	p.H1705H	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1705										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		ATCAGGCACACAGACACTCAG	0.378													T	85638665	C	T	85638665	2	4	364	1	0	0	0	0	0	0	0	1	9099	477	17	2		2	LRRIQ1	12	85638665	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92551	85638665	48213230	9828	33330											
ALX1	8092	broad.mit.edu	37	chr12	85680716	85680716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaaagccattttgctgccaCctatgatatatcagttttgc	11	14	7	9	0	1	1	1	1	0	0	1	2	1	1	3	0	4	2	3	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:85680716C>A	ENST00000316824.3	+	3	772	c.617C>A	c.(616-618)aCc>aAc	p.T206N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	206					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		TTTGCTGCCACCTATGATATA	0.368													A	85680716	C	A	85680716	3	1	364	1	0	0	0	0	1	0	0	0	556	507	18	4	627	4	ALX1	12	85680716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42051	85680716	48171179	9829	33331											
RASSF9	9182	broad.mit.edu	37	chr12	86198665	86198665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttttcctttaactggcAcccatctttgttgctaatgt	6	19	6	10	0	2	0	0	0	2	0	3	0	3	0	2	1	2	4	2	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86198665A>G	ENST00000361228.3	-	2	1491	c.1123T>C	c.(1123-1125)Tgc>Cgc	p.C375R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	375					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTAACTGGCACCCATCTTTG	0.393													G	86198665	A	G	86198665	3	3	364	1	0	0	0	0	1	0	0	0	13181	159	6	3	188	3	RASSF9	12	86198665	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	517949	86198665	47653230	9830	33332											
MGAT4C	25834	broad.mit.edu	37	chr12	86377346	86377346	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtagcgataggtgacatTtatggctcctgagaaattag	12	12	12	5	1	0	2	0	2	0	1	1	4	1	2	1	3	1	2	1	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:86377346T>G	ENST00000604798.1	-	7	1454	c.250A>C	c.(250-252)Aat>Cat	p.N84H	MGAT4C_ENST00000548651.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.N113H|MGAT4C_ENST00000552435.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.N84H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.N84H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.N84H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	84					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGTGACATTTATGGCTCCT	0.328													G	86377346	T	G	86377346	3	3	364	1	0	0	0	0	1	0	0	0	9622	1841	64	5	1194	5	MGAT4C	12	86377346	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178681	86377346	47474549	9831	33333											
C12orf50	160419	broad.mit.edu	37	chr12	88379716	88379716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaaggtgcattcaacGcgacagtcctgacagcatct	10	8	12	11	3	2	1	1	1	1	0	3	3	3	2	1	2	4	2	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379716G>A	ENST00000298699.2	-	11	1217	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	C12orf50_ENST00000550553.1_Missense_Mutation_p.A307V	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	346										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TGCATTCAACGCGACAGTCCT	0.478													A	88379716	G	A	88379716	3	1	364	1	0	0	0	0	1	0	0	0	1708	1087	38	1	219	1	C12orf50	12	88379716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2002370	88379716	45472179	9832	33334											
C12orf50	160419	broad.mit.edu	37	chr12	88379745	88379745	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagcatctctttgaacGtggatataggatgcattctc	10	13	9	9	1	2	2	0	2	2	0	4	4	2	4	0	2	3	2	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88379745G>A	ENST00000298699.2	-	11	1188	c.1008C>T	c.(1006-1008)caC>caT	p.H336H	C12orf50_ENST00000550553.1_Silent_p.H297H	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	336										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						CTCTTTGAACGTGGATATAGG	0.473													A	88379745	G	A	88379745	2	1	364	1	0	0	0	0	0	0	0	1	1708	1136	40	1		1	C12orf50	12	88379745	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	88379745	45472150	9833	33335											
C12orf29	91298	broad.mit.edu	37	chr12	88433974	88433974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcacaaggcattagatgCagatatatacagtgcaattc	16	10	8	7	0	1	2	1	0	0	2	2	2	1	2	0	1	3	3	0	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88433974C>T	ENST00000356891.3	+	2	343	c.140C>T	c.(139-141)gCa>gTa	p.A47V	C12orf29_ENST00000548757.2_3'UTR	NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	47										large_intestine(3)|lung(1)|ovary(1)	5						GCATTAGATGCAGATATATAC	0.313													T	88433974	C	T	88433974	3	4	364	1	0	0	0	0	1	0	0	0	1693	710	25	2	146	2	C12orf29	12	88433974	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54229	88433974	45417921	9834	33336											
CEP290	80184	broad.mit.edu	37	chr12	88500547	88500547	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttcttttctaagttgtcGctccaattctactaaggttg	8	19	6	8	1	3	0	0	0	3	0	5	0	4	0	1	1	1	3	1	1	4	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88500547G>A	ENST00000552810.1	-	25	3065	c.2722C>T	c.(2722-2724)Cga>Tga	p.R908*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.R910*|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	908					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTAAGTTGTCGCTCCAATTCT	0.308													A	88500547	G	A	88500547	4	1	364	1	0	0	0	0	0	1	0	0	3283	1095	38	1	4837	1	CEP290	12	88500547	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66573	88500547	45351348	9835	33337											
CEP290	80184	broad.mit.edu	37	chr12	88505575	88505575	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttccggtaagctgatcaaCttgggctttcaaatgcagac	10	12	9	10	1	3	2	2	1	1	1	4	2	4	2	1	2	3	4	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88505575C>A	ENST00000552810.1	-	21	2456	c.2113G>T	c.(2113-2115)Gtt>Ttt	p.V705F	CEP290_ENST00000309041.7_Missense_Mutation_p.V707F|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	705					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						AGCTGATCAACTTGGGCTTTC	0.358													A	88505575	C	A	88505575	3	1	364	1	0	0	0	0	1	0	0	0	3283	565	20	4	5462	4	CEP290	12	88505575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5028	88505575	45346320	9836	33338											
CEP290	80184	broad.mit.edu	37	chr12	88514803	88514803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcttttaacctcttcagagCctcaactaattctttatcct	10	17	2	12	0	5	1	2	0	3	1	6	1	6	1	3	0	3	0	3	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514803C>T	ENST00000552810.1	-	14	1673	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CEP290_ENST00000309041.7_Missense_Mutation_p.A444T|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	444					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CTCTTCAGAGCCTCAACTAAT	0.368													T	88514803	C	T	88514803	3	4	364	1	0	0	0	0	1	0	0	0	3283	739	26	2	6273	2	CEP290	12	88514803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9228	88514803	45337092	9837	33339											
CEP290	80184	broad.mit.edu	37	chr12	88514815	88514815	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagagcctcaactaattCtttatccttttccctagcat	9	16	3	13	0	3	1	2	0	1	1	5	1	5	1	3	0	3	1	3	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88514815C>A	ENST00000552810.1	-	14	1661	c.1318G>T	c.(1318-1320)Gaa>Taa	p.E440*	CEP290_ENST00000309041.7_Nonsense_Mutation_p.E440*|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	440					cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding			breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						TCAACTAATTCTTTATCCTTT	0.358													A	88514815	C	A	88514815	4	1	364	1	0	0	0	0	0	1	0	0	3283	922	32	4	6285	4	CEP290	12	88514815	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12	88514815	45337080	9838	33340											
KITLG	4254	broad.mit.edu	37	chr12	88910194	88910194	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgaaggcatcaatggatCtattaaaaattctaaagaat	17	12	6	6	0	3	2	1	1	2	1	3	3	3	3	1	2	0	1	1	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88910194C>A	ENST00000347404.5	-	5	1009	c.437G>T	c.(436-438)aGa>aTa	p.R146I	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.R146I	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	146					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						ATCAATGGATCTATTAAAAAT	0.348									Testicular Cancer, Familial Clustering of				A	88910194	C	A	88910194	3	1	364	1	0	0	0	0	1	0	0	0	8388	913	32	4	404	4	KITLG	12	88910194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395379	88910194	44941701	9839	33341											
KITLG	4254	broad.mit.edu	37	chr12	88926274	88926274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgtagtcttttggaagatTtgccacctacagagacaaaa	14	11	8	8	0	1	2	0	0	1	2	1	4	1	3	2	1	2	1	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:88926274T>C	ENST00000347404.5	-	3	708	c.136A>G	c.(136-138)Aat>Gat	p.N46D	KITLG_ENST00000378535.4_5'UTR|KITLG_ENST00000357116.4_Intron|KITLG_ENST00000228280.5_Missense_Mutation_p.N46D	NM_003994.5	NP_003985.2	P21583	SCF_HUMAN	KIT ligand	46					cell adhesion|cell proliferation|hemopoiesis|male gonad development|positive regulation of DNA replication|signal transduction	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	growth factor activity|identical protein binding|stem cell factor receptor binding			kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|stomach(1)	9						TTTGGAAGATTTGCCACCTAC	0.328									Testicular Cancer, Familial Clustering of				C	88926274	T	C	88926274	3	2	364	1	0	0	0	0	1	0	0	0	8388	1841	64	3	713	3	KITLG	12	88926274	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16080	88926274	44925621	9840	33342											
POC1B	282809	broad.mit.edu	37	chr12	89818984	89818984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatgctctaaagcatcaGtcacagcgagaggtatgctc	13	10	9	9	1	3	1	2	0	1	1	4	2	3	1	0	1	4	4	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:89818984G>T	ENST00000393179.4	-	9	1509	c.896C>A	c.(895-897)aCt>aAt	p.T299N	POC1B_ENST00000313546.3_Missense_Mutation_p.T429N|POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.T387N|POC1B_ENST00000546740.1_5'UTR					POC1 centriolar protein B											endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TAAAGCATCAGTCACAGCGAG	0.428													T	89818984	G	T	89818984	3	4	364	1	0	0	0	0	1	0	0	0	12253	1029	36	4	158	4	POC1B	12	89818984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	892710	89818984	44032911	9841	33343											
LUM	4060	broad.mit.edu	37	chr12	91502238	91502238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagctgaaacagcatcCtctttcagccgattgtgctg	11	10	9	11	1	2	1	1	1	1	0	3	2	3	1	2	0	6	4	2	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:91502238C>A	ENST00000266718.4	-	2	973	c.519G>T	c.(517-519)gaG>gaT	p.E173D	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	173					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						AAACAGCATCCTCTTTCAGCC	0.453													A	91502238	C	A	91502238	3	1	364	1	0	0	0	0	1	0	0	0	9155	680	24	4	505	4	LUM	12	91502238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1683254	91502238	42349657	9842	33344											
CLLU1	574028	broad.mit.edu	37	chr12	92818761	92818761	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaggtaagtaaaaaacataTtatttattctacgtttttgt	15	17	5	4	1	1	0	0	0	1	0	1	0	1	0	0	1	2	3	0	1	8	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:92818761T>G	ENST00000378485.1	+	1	1027	c.305T>G	c.(304-306)aTt>aGt	p.I102S	CLLU1OS_ENST00000538965.1_Intron|CLLU1OS_ENST00000378487.2_Intron|RP11-693J15.4_ENST00000508671.1_RNA|CLLU1_ENST00000472839.2_Intron	NM_001025233.1	NP_001020404.1			chronic lymphocytic leukemia up-regulated 1											NS(1)|breast(1)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	7						AAAAAACATATTATTTATTCT	0.313													G	92818761	T	G	92818761	3	3	364	1	0	0	0	0	1	0	0	0	3571	1493	52	5	307	5	CLLU1	12	92818761	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1316523	92818761	41033134	9843	33345											
C12orf74	338809	broad.mit.edu	37	chr12	93100751	93100751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctctgaacctgaaagggCcctgaatgcagctgactcac	11	7	10	13	0	2	4	1	4	1	0	2	5	2	4	3	1	3	2	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93100751C>T	ENST00000544406.2	+	2	610	c.344C>T	c.(343-345)gCc>gTc	p.A115V	C12orf74_ENST00000397833.3_Missense_Mutation_p.A115V			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	115										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						CCTGAAAGGGCCCTGAATGCA	0.547													T	93100751	C	T	93100751	3	4	364	1	0	0	0	0	1	0	0	0	1727	739	26	2	346	2	C12orf74	12	93100751	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	281990	93100751	40751144	9844	33346											
PLEKHG7	440107	broad.mit.edu	37	chr12	93157910	93157910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggttcgtgtacagtactcGatcagcctattccactagat	9	13	9	10	2	1	1	1	0	0	1	4	2	2	1	2	1	3	3	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93157910G>A	ENST00000344636.3	+	10	1058	c.874G>A	c.(874-876)Gat>Aat	p.D292N		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	292	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.D292N(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						TACAGTACTCGATCAGCCTAT	0.413													A	93157910	G	A	93157910	3	1	364	1	0	0	0	0	1	0	0	0	12152	1058	37	1	908	1	PLEKHG7	12	93157910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57159	93157910	40693985	9845	33347											
EEA1	8411	broad.mit.edu	37	chr12	93169839	93169839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agacacgaacaggcttcttgGaggaaggagttaaggcattt	13	9	13	6	1	1	1	0	0	1	1	1	5	1	4	0	5	1	3	0	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93169839G>A	ENST00000322349.8	-	29	4448	c.4184C>T	c.(4183-4185)tCc>tTc	p.S1395F		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1395					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						AGGCTTCTTGGAGGAAGGAGT	0.363													A	93169839	G	A	93169839	3	1	364	1	0	0	0	0	1	0	0	0	4960	1174	41	2	55	2	EEA1	12	93169839	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11929	93169839	40682056	9846	33348											
EEA1	8411	broad.mit.edu	37	chr12	93258692	93258692	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcattaccagcatcatgAacagcttcataatgtttgaa	14	12	7	8	0	3	2	3	2	0	0	3	3	3	2	1	0	4	3	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:93258692A>G	ENST00000322349.8	-	3	453	c.189T>C	c.(187-189)gtT>gtC	p.V63V	EEA1_ENST00000547833.1_5'UTR	NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	63					early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						CAGCATCATGAACAGCTTCAT	0.373													G	93258692	A	G	93258692	2	3	364	1	0	0	0	0	0	0	0	1	4960	233	9	3		3	EEA1	12	93258692	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	88853	93258692	40593203	9847	33349											
PLXNC1	10154	broad.mit.edu	37	chr12	94645258	94645258	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtcagttccttccacatgGtattttctgattgtgctccc	6	16	8	11	0	2	1	1	1	1	0	5	2	5	1	3	1	1	3	3	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94645258G>A	ENST00000258526.4	+	15	3084	c.2835G>A	c.(2833-2835)tgG>tgA	p.W945*		NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	945					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						CTTCCACATGGTATTTTCTGA	0.473													A	94645258	G	A	94645258	4	1	364	1	0	0	0	0	0	1	0	0	12203	1270	44	2	2893	2	PLXNC1	12	94645258	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1386566	94645258	39206637	9848	33350											
TMCC3	57458	broad.mit.edu	37	chr12	94976228	94976228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagtccaggatgccatcCgggacatcaaagttgaggtt	11	9	13	8	1	1	1	1	1	0	0	3	4	3	4	3	4	1	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:94976228C>T	ENST00000261226.4	-	2	296	c.165G>A	c.(163-165)ccG>ccA	p.P55P	TMCC3_ENST00000551457.1_Silent_p.P24P	NM_020698.2	NP_065749	Q9ULS5	TMCC3_HUMAN	transmembrane and coiled-coil domain family 3	55						integral to membrane				NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	29						GGATGCCATCCGGGACATCAA	0.478													T	94976228	C	T	94976228	2	4	364	1	0	0	0	0	0	0	0	1	16094	639	23	1		1	TMCC3	12	94976228	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330970	94976228	38875667	9849	33351											
NR2C1	7181	broad.mit.edu	37	chr12	95451579	95451580	+	Frame_Shift_Ins	INS	-	-	T																															aaggtcctttcggatatagaINSttttttctgttgaagcggca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95451579_95451580insT	ENST00000333003.5	-	6	949_950	c.619_620insA	c.(619-621)atcfs	p.I207fs	NR2C1_ENST00000330677.7_Frame_Shift_Ins_p.I207fs|NR2C1_ENST00000393101.3_Frame_Shift_Ins_p.I207fs|NR2C1_ENST00000545833.1_5'UTR	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	207					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TCGGATATAGATTTTTTCTGTT	0.366													T	95451580	-	T	95451579	7	5	364	1	0	1	1	0	0	0	0	0	10698	333	12	0	1305	0	NR2C1	12	95451579	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	475351	95451579	38400316	9850	33352											
NR2C1	7181	broad.mit.edu	37	chr12	95452161	95452161	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcggtggtgcttattaaTaatacaatcctttgatcctc	9	17	7	8	1	0	1	0	1	0	0	4	1	2	1	2	2	2	2	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95452161T>C	ENST00000333003.5	-	5	799	c.469A>G	c.(469-471)Att>Gtt	p.I157V	NR2C1_ENST00000545833.1_5'UTR|NR2C1_ENST00000393101.3_Missense_Mutation_p.I157V|NR2C1_ENST00000330677.7_Missense_Mutation_p.I157V	NM_003297.3	NP_003288.2	P13056	NR2C1_HUMAN	nuclear receptor subfamily 2, group C, member 1	157	Required for interaction with KAT2B (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	PML body	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13						TGCTTATTAATAATACAATCC	0.358													C	95452161	T	C	95452161	3	2	364	1	0	0	0	0	1	0	0	0	10698	1406	49	3	1460	3	NR2C1	12	95452161	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	582	95452161	38399734	9851	33353											
FGD6	55785	broad.mit.edu	37	chr12	95605029	95605029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttgggcttgggggccactgGtggcttctttatctctagaa	5	14	13	9	0	2	1	0	0	2	1	3	1	2	1	1	5	0	2	1	5	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95605029G>A	ENST00000343958.4	-	2	254	c.31C>T	c.(31-33)Cca>Tca	p.P11S	FGD6_ENST00000549499.1_Missense_Mutation_p.P11S|FGD6_ENST00000546711.1_Missense_Mutation_p.P11S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	11					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						GGGGCCACTGGTGGCTTCTTT	0.378													A	95605029	G	A	95605029	3	1	364	1	0	0	0	0	1	0	0	0	5886	1261	44	2	4341	2	FGD6	12	95605029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152868	95605029	38246866	9852	33354											
VEZT	55591	broad.mit.edu	37	chr12	95650977	95650977	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaagttggattttttttTctcagtgcaataagaaagat	14	16	7	4	0	2	2	2	0	1	2	3	3	2	3	0	1	1	2	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95650977T>C	ENST00000436874.1	+	3	325	c.220T>C	c.(220-222)Tct>Cct	p.S74P	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.S26P	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	74						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GATTTTTTTTTCTCAGTGCAA	0.343													C	95650977	T	C	95650977	3	2	364	1	0	0	0	0	1	0	0	0	17258	1783	62	3	230	3	VEZT	12	95650977	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45948	95650977	38200918	9853	33355											
VEZT	55591	broad.mit.edu	37	chr12	95676134	95676134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttcagagttcttcagaCggttagccctattactttct	9	15	8	9	1	4	3	2	0	2	3	4	3	4	3	1	1	2	3	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95676134C>T	ENST00000436874.1	+	8	1147	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R300W	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	348						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						GTTCTTCAGACGGTTAGCCCT	0.408													T	95676134	C	T	95676134	3	4	364	1	0	0	0	0	1	0	0	0	17258	527	19	1	1072	1	VEZT	12	95676134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25157	95676134	38175761	9854	33356											
METAP2	10988	broad.mit.edu	37	chr12	95887833	95887833	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgcccactctaaaggCgaacagctgcttggagaact	11	10	9	11	1	2	1	0	0	2	1	2	3	2	1	1	2	5	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95887833C>T	ENST00000323666.5	+	5	659	c.430C>T	c.(430-432)Cga>Tga	p.R144*	METAP2_ENST00000551840.1_Splice_Site_p.R143*|METAP2_ENST00000550777.1_Splice_Site_p.R108*|METAP2_ENST00000546753.1_Splice_Site_p.R121*|METAP2_ENST00000261220.9_Splice_Site_p.R121*	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	144					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	ACTCTAAAGGCGAACAGCTGC	0.373													T	95887833	C	T	95887833	5	4	364	1	0	0	0	0	0	0	1	0	9562	782	27	1	448	1	METAP2	12	95887833	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211699	95887833	37964062	9855	33357											
METAP2	10988	broad.mit.edu	37	chr12	95905716	95905716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcaattgggcaatataGaatacatgctggaaaaacag	18	9	8	6	0	1	1	1	0	0	1	1	2	1	2	0	2	3	2	0	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95905716G>T	ENST00000323666.5	+	9	1239	c.1010G>T	c.(1009-1011)aGa>aTa	p.R337I	METAP2_ENST00000551840.1_Missense_Mutation_p.R336I|METAP2_ENST00000550777.1_Missense_Mutation_p.R301I|METAP2_ENST00000546753.1_Missense_Mutation_p.R314I|METAP2_ENST00000261220.9_Missense_Mutation_p.R314I	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	337					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GGGCAATATAGAATACATGCT	0.363													T	95905716	G	T	95905716	3	4	364	1	0	0	0	0	1	0	0	0	9562	942	33	4	1044	4	METAP2	12	95905716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17883	95905716	37946179	9856	33358											
METAP2	10988	broad.mit.edu	37	chr12	95907642	95907642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataccatcctgttgcgtccaAcatgtaaagaagttgtcagc	12	11	8	10	1	1	1	1	0	0	1	3	1	3	1	3	0	4	3	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95907642A>G	ENST00000323666.5	+	11	1628	c.1399A>G	c.(1399-1401)Aca>Gca	p.T467A	METAP2_ENST00000551840.1_Missense_Mutation_p.T466A|METAP2_ENST00000550777.1_Missense_Mutation_p.T431A|METAP2_ENST00000546753.1_Missense_Mutation_p.T444A|METAP2_ENST00000261220.9_Missense_Mutation_p.T444A	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	467					N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	GTTGCGTCCAACATGTAAAGA	0.393													G	95907642	A	G	95907642	3	3	364	1	0	0	0	0	1	0	0	0	9562	43	2	3	1441	3	METAP2	12	95907642	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1926	95907642	37944253	9857	33359											
USP44	84101	broad.mit.edu	37	chr12	95914946	95914946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaaagccaacatgaacaCcaatcttctctcggttatta	13	11	4	13	1	3	1	1	1	2	0	5	1	3	1	3	1	3	1	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95914946C>T	ENST00000258499.3	-	5	2054	c.1766G>A	c.(1765-1767)gGt>gAt	p.G589D	USP44_ENST00000552440.1_Intron|USP44_ENST00000537435.2_Missense_Mutation_p.G589D|USP44_ENST00000393091.2_Missense_Mutation_p.G589D	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	589					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AACATGAACACCAATCTTCTC	0.428													T	95914946	C	T	95914946	3	4	364	1	0	0	0	0	1	0	0	0	17177	507	18	2	380	2	USP44	12	95914946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7304	95914946	37936949	9858	33360											
USP44	84101	broad.mit.edu	37	chr12	95918498	95918498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaacctgaggtaggtggCatatcataagttgtttctgg	10	13	13	5	0	2	2	1	2	1	1	2	3	2	2	1	4	1	4	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95918498C>T	ENST00000258499.3	-	4	1979	c.1691G>A	c.(1690-1692)tGc>tAc	p.C564Y	USP44_ENST00000552440.1_3'UTR|USP44_ENST00000537435.2_Missense_Mutation_p.C564Y|USP44_ENST00000393091.2_Missense_Mutation_p.C564Y	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	564					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						AGGTAGGTGGCATATCATAAG	0.393													T	95918498	C	T	95918498	3	4	364	1	0	0	0	0	1	0	0	0	17177	710	25	2	459	2	USP44	12	95918498	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3552	95918498	37933397	9859	33361											
USP44	84101	broad.mit.edu	37	chr12	95927508	95927508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgaaatggttcttcttgCttttttcttccaatgggtga	6	19	8	8	0	3	2	0	2	3	0	5	2	5	2	2	2	1	2	2	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:95927508C>T	ENST00000258499.3	-	2	813	c.525G>A	c.(523-525)aaG>aaA	p.K175K	USP44_ENST00000552440.1_Silent_p.K175K|USP44_ENST00000537435.2_Silent_p.K175K|USP44_ENST00000393091.2_Silent_p.K175K	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	175					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						GTTCTTCTTGCTTTTTTCTTC	0.363													T	95927508	C	T	95927508	2	4	364	1	0	0	0	0	0	0	0	1	17177	796	28	2		2	USP44	12	95927508	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9010	95927508	37924387	9860	33362											
SNRPF	6636	broad.mit.edu	37	chr12	96273469	96273469	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtttacctcttcaagattTtcatctacatcttgggaata	10	18	5	8	0	5	1	2	0	3	1	5	2	5	2	1	1	2	1	1	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96273469T>C	ENST00000552085.1	+	3	238	c.133T>C	c.(133-135)Ttc>Ctc	p.F45L	SNRPF_ENST00000553192.1_Missense_Mutation_p.F45L|CCDC38_ENST00000344280.3_Silent_p.E365E			P62306	RUXF_HUMAN	small nuclear ribonucleoprotein polypeptide F	45					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|lung(1)	2						CTTCAAGATTTTCATCTACAT	0.338													C	96273469	T	C	96273469	3	2	364	1	0	0	0	0	1	0	0	0	14962	1838	64	3		3	SNRPF	12	96273469	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	345961	96273469	37578426	9861	33363											
AMDHD1	144193	broad.mit.edu	37	chr12	96346512	96346512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagagatggatttataaaagCtattggtcctgctgatgtta	12	14	10	5	0	0	2	0	1	0	1	1	4	1	3	1	2	2	3	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96346512C>A	ENST00000266736.2	+	2	261	c.155C>A	c.(154-156)gCt>gAt	p.A52D		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	52					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TTTATAAAAGCTATTGGTCCT	0.318													A	96346512	C	A	96346512	3	1	364	1	0	0	0	0	1	0	0	0	567	797	28	4	161	4	AMDHD1	12	96346512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73043	96346512	37505383	9862	33364											
AMDHD1	144193	broad.mit.edu	37	chr12	96350567	96350567	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggagctgttccgctccttGcagcaacggctccagtgcat	7	9	12	13	2	0	0	0	0	0	0	3	2	3	1	3	2	5	7	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96350567G>A	ENST00000266736.2	+	4	520	c.414G>A	c.(412-414)ttG>ttA	p.L138L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	138					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TCCGCTCCTTGCAGCAACGGC	0.617													A	96350567	G	A	96350567	2	1	364	1	0	0	0	0	0	0	0	1	567	1310	46	2		2	AMDHD1	12	96350567	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4055	96350567	37501328	9863	33365											
AMDHD1	144193	broad.mit.edu	37	chr12	96359553	96359553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccaatgcatattgcttttCaatggtaattatttttttca	10	19	4	8	0	2	0	2	0	0	0	2	0	2	0	2	1	2	3	2	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96359553C>T	ENST00000266736.2	+	7	1134	c.1028C>T	c.(1027-1029)tCa>tTa	p.S343L		NM_152435.2	NP_689648.2	Q96NU7	HUTI_HUMAN	amidohydrolase domain containing 1	343					histidine catabolic process to glutamate and formamide	cytosol	imidazolonepropionase activity|metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|skin(1)	22						TATTGCTTTTCAATGGTAATT	0.338													T	96359553	C	T	96359553	3	4	364	1	0	0	0	0	1	0	0	0	567	838	29	2	1054	2	AMDHD1	12	96359553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8986	96359553	37492342	9864	33366											
LTA4H	4048	broad.mit.edu	37	chr12	96394849	96394849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcttggtaggttcggacaGcttgatcatgggatttgtca	7	14	13	7	1	3	1	2	1	1	0	4	3	3	3	0	4	1	4	0	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96394849G>A	ENST00000228740.2	-	19	1895	c.1754C>T	c.(1753-1755)gCt>gTt	p.A585V	LTA4H_ENST00000413268.2_3'UTR|RP11-256L6.3_ENST00000551849.1_RNA|LTA4H_ENST00000552789.1_Missense_Mutation_p.A561V	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	585					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						GGTTCGGACAGCTTGATCATG	0.453													A	96394849	G	A	96394849	3	1	364	1	0	0	0	0	1	0	0	0	9139	971	34	2	85	2	LTA4H	12	96394849	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35296	96394849	37457046	9865	33367											
LTA4H	4048	broad.mit.edu	37	chr12	96407006	96407006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggagagtagagccaggCattccaatcaacttgattga	13	9	10	9	0	1	4	1	2	0	2	3	5	3	4	3	2	2	2	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96407006C>T	ENST00000228740.2	-	14	1480	c.1339G>A	c.(1339-1341)Gcc>Acc	p.A447T	LTA4H_ENST00000413268.2_Missense_Mutation_p.A423T|LTA4H_ENST00000548375.1_5'UTR|LTA4H_ENST00000552789.1_Missense_Mutation_p.A423T	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	447					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TAGAGCCAGGCATTCCAATCA	0.393													T	96407006	C	T	96407006	3	4	364	1	0	0	0	0	1	0	0	0	9139	710	25	2	520	2	LTA4H	12	96407006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12157	96407006	37444889	9866	33368											
CDK17	5128	broad.mit.edu	37	chr12	96691079	96691079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatactcatgatgtttccaCagtcatccatgtactgtttc	9	15	6	11	0	2	1	2	1	0	0	5	1	4	1	2	0	2	4	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:96691079C>T	ENST00000261211.3	-	9	1445	c.842G>A	c.(841-843)tGt>tAt	p.C281Y	CDK17_ENST00000553042.1_5'UTR|CDK17_ENST00000542666.1_Missense_Mutation_p.C228Y|CDK17_ENST00000543119.2_Missense_Mutation_p.C281Y	NM_001170464.2|NM_002595.4	NP_001163935.1|NP_002586.2	Q00537	CDK17_HUMAN	cyclin-dependent kinase 17	281	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(11)|ovary(4)|prostate(2)|skin(1)	37						GATGTTTCCACAGTCATCCAT	0.343													T	96691079	C	T	96691079	3	4	364	1	0	0	0	0	1	0	0	0	3163	478	17	2	803	2	CDK17	12	96691079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	284073	96691079	37160816	9867	33369											
NEDD1	121441	broad.mit.edu	37	chr12	97339521	97339522	+	Frame_Shift_Ins	INS	-	-	A																															agttgccagttcactctcagINSaaaaaatagccgacagcatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:97339521_97339522insA	ENST00000266742.4	+	14	2044_2045	c.1705_1706insA	c.(1705-1707)gaafs	p.E569fs	NEDD1_ENST00000457368.2_Frame_Shift_Ins_p.E480fs|NEDD1_ENST00000429527.2_Frame_Shift_Ins_p.E569fs|NEDD1_ENST00000557644.1_Frame_Shift_Ins_p.E576fs|NEDD1_ENST00000411739.2_Frame_Shift_Ins_p.E480fs	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	569					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						TTCACTCTCAGAAAAAATAGCC	0.376													A	97339522	-	A	97339521	7	5	364	1	0	1	1	0	0	0	0	0	10385	943	33	0	1776	0	NEDD1	12	97339521	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	648442	97339521	36512374	9868	33370											
SLC25A3	5250	broad.mit.edu	37	chr12	98989291	98989291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattagctgtggcacaacaCatacagcattggttcctcta	11	13	7	10	0	1	0	0	0	1	0	2	0	2	0	1	2	4	4	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98989291C>T	ENST00000228318.3	+	3	358	c.238C>T	c.(238-240)Cat>Tat	p.H80Y	SLC25A3_ENST00000549338.1_Intron|SLC25A3_ENST00000548847.1_Intron|SLC25A3_ENST00000551917.1_Missense_Mutation_p.H80Y|SLC25A3_ENST00000401722.3_Intron|SLC25A3_ENST00000547534.1_Intron|SLC25A3_ENST00000188376.5_Intron|SLC25A3_ENST00000552981.1_Intron	NM_005888.3	NP_005879.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	80					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		TGGCACAACACATACAGCATT	0.393													T	98989291	C	T	98989291	3	4	364	1	0	0	0	0	1	0	0	0	14587	478	17	2	244	2	SLC25A3	12	98989291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1649770	98989291	34862604	9869	33371											
SLC25A3	5250	broad.mit.edu	37	chr12	98992475	98992475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtataaggaagaaggccTaaaagcgtaagtaaacactt	19	8	9	5	1	0	1	0	0	0	1	0	2	0	2	1	2	2	3	1	2	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:98992475T>C	ENST00000188376.5	+	4	989	c.635T>C	c.(634-636)cTa>cCa	p.L212P	SLC25A3_ENST00000549338.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000228318.3_Missense_Mutation_p.L213P|SLC25A3_ENST00000548847.1_Missense_Mutation_p.L212P|SLC25A3_ENST00000551917.1_Missense_Mutation_p.L213P|SLC25A3_ENST00000401722.3_Missense_Mutation_p.L212P|SLC25A3_ENST00000552981.1_Missense_Mutation_p.L212P	NM_002635.3|NM_213611.2	NP_002626.1|NP_998776.1	Q00325	MPCP_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3	213					generation of precursor metabolites and energy	integral to plasma membrane|mitochondrial inner membrane	phosphate carrier activity|symporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(8)|prostate(1)	16		Lung NSC(355;4.08e-05)|Breast(359;0.00191)|Colorectal(145;0.00205)|Myeloproliferative disorder(1001;0.0255)		GBM - Glioblastoma multiforme(134;1.36e-23)|BRCA - Breast invasive adenocarcinoma(302;0.000115)		GAAGAAGGCCTAAAAGCGTAA	0.338													C	98992475	T	C	98992475	3	2	364	1	0	0	0	0	1	0	0	0	14587	1522	53	3	778	3	SLC25A3	12	98992475	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3184	98992475	34859420	9870	33372											
APAF1	317	broad.mit.edu	37	chr12	99121056	99121056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctttgcttttctccaGatggcaaaatgcttatctct	8	16	6	11	0	2	2	0	1	2	1	4	2	2	2	2	1	2	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:99121056G>T	ENST00000357310.1	+	25	4010	c.3433G>T	c.(3433-3435)Gat>Tat	p.D1145Y	APAF1_ENST00000547045.1_Missense_Mutation_p.D1145Y|APAF1_ENST00000551964.1_Missense_Mutation_p.D1188Y|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000339433.3_Missense_Mutation_p.D1103Y|APAF1_ENST00000359972.2_Missense_Mutation_p.D1134Y|APAF1_ENST00000550527.1_Missense_Mutation_p.D1177Y|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.D1103Y	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	1188					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CTTTTCTCCAGATGGCAAAAT	0.428													T	99121056	G	T	99121056	3	4	364	1	0	0	0	0	1	0	0	0	757	942	33	4	3660	4	APAF1	12	99121056	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128581	99121056	34730839	9871	33373											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100433472	100433472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggcttgcgtgacactgcGttgtttcttcagatcatact	7	15	10	9	2	3	2	2	1	1	1	3	2	3	2	0	1	3	3	0	1	1	5	rs142553294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100433472G>A	ENST00000279907.7	-	20	4389	c.4177C>T	c.(4177-4179)Cgc>Tgc	p.R1393C	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.R1043C	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	1393										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						GTGACACTGCGTTGTTTCTTC	0.453													A	100433472	G	A	100433472	3	1	364	1	0	0	0	0	1	0	0	0	17071	1145	40	1	225	1	UHRF1BP1L	12	100433472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1312416	100433472	33418423	9872	33374											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452367	100452367	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattttctgtaggcaaataAtcaggtaccactgggctcac	11	11	8	11	0	3	0	2	0	1	0	3	0	3	0	2	3	1	4	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452367A>G	ENST00000279907.7	-	14	2900	c.2688T>C	c.(2686-2688)gaT>gaC	p.D896D	UHRF1BP1L_ENST00000545232.2_Silent_p.D546D	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	896										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						TAGGCAAATAATCAGGTACCA	0.363													G	100452367	A	G	100452367	2	3	364	1	0	0	0	0	0	0	0	1	17071	98	4	3		3	UHRF1BP1L	12	100452367	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18895	100452367	33399528	9873	33375											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100452847	100452847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcggctctttttgtgaCtctgcatatcttgttggttg	3	19	11	8	1	4	1	0	1	4	0	4	1	4	1	0	2	2	4	0	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100452847C>T	ENST00000279907.7	-	14	2420	c.2208G>A	c.(2206-2208)gaG>gaA	p.E736E	UHRF1BP1L_ENST00000545232.2_Silent_p.E386E	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	736										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTTTTTGTGACTCTGCATATC	0.408													T	100452847	C	T	100452847	2	4	364	1	0	0	0	0	0	0	0	1	17071	564	20	2		2	UHRF1BP1L	12	100452847	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	480	100452847	33399048	9874	33376											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100502171	100502171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcaaagtctcaccctaatgGacgctttattacaaaaaact	16	11	4	10	1	2	0	2	0	1	0	3	1	2	1	1	1	2	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100502171G>A	ENST00000279907.7	-	2	412	c.200C>T	c.(199-201)tCc>tTc	p.S67F	UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.S67F	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	67										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CACCCTAATGGACGCTTTATT	0.353													A	100502171	G	A	100502171	3	1	364	1	0	0	0	0	1	0	0	0	17071	1174	41	2	4298	2	UHRF1BP1L	12	100502171	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49324	100502171	33349724	9875	33377											
SCYL2	55681	broad.mit.edu	37	chr12	100732859	100732859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtatgcagggtaatcCtttctttaacccacagaact	10	15	7	9	0	1	1	0	0	1	1	2	1	2	1	2	2	3	3	2	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100732859C>A	ENST00000360820.2	+	18	3136	c.2699C>A	c.(2698-2700)cCt>cAt	p.P900H		NM_017988.4	NP_060458.3	Q6P3W7	SCYL2_HUMAN	SCY1-like 2 (S. cerevisiae)	900	Necessary for interaction with AP2 complex and clathrin, interaction with clathrin is necessary for its targeting to the TGN and endosomal membranes.				endosome to lysosome transport|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of clathrin-mediated endocytosis|positive regulation of receptor internalization	clathrin-coated vesicle|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|protein kinase activity|receptor binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(4)|lung(15)|ovary(2)|skin(1)	41						CAGGGTAATCCTTTCTTTAAC	0.428													A	100732859	C	A	100732859	3	1	364	1	0	0	0	0	1	0	0	0	14041	681	24	4	2765	4	SCYL2	12	100732859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230688	100732859	33119036	9876	33378											
SLC17A8	246213	broad.mit.edu	37	chr12	100790181	100790181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagaagccgactggccaCaacctctttttgtggtgggt	8	10	14	9	1	1	1	0	0	1	1	1	4	1	2	3	4	2	0	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:100790181C>T	ENST00000323346.5	+	5	975	c.662C>T	c.(661-663)aCa>aTa	p.T221I	SLC17A8_ENST00000392989.3_Missense_Mutation_p.T221I	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	221					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						CGACTGGCCACAACCTCTTTT	0.458													T	100790181	C	T	100790181	3	4	364	1	0	0	0	0	1	0	0	0	14517	478	17	2	680	2	SLC17A8	12	100790181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57322	100790181	33061714	9877	33379											
ANO4	121601	broad.mit.edu	37	chr12	101333158	101333158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtccttgcaaagatgacGattctcttcttcaccctgga	9	12	8	12	1	3	2	1	1	2	1	5	4	4	3	2	1	1	2	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101333158G>A	ENST00000392979.3	+	3	482	c.121G>A	c.(121-123)Gat>Aat	p.D41N	ANO4_ENST00000392977.3_Missense_Mutation_p.D76N|ANO4_ENST00000538618.1_Missense_Mutation_p.D242N|ANO4_ENST00000299222.9_5'UTR	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	76						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						CAAAGATGACGATTCTCTTCT	0.403										HNSCC(74;0.22)			A	101333158	G	A	101333158	3	1	364	1	0	0	0	0	1	0	0	0	699	1058	37	1	127	1	ANO4	12	101333158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	542977	101333158	32518737	9878	33380											
SLC5A8	160728	broad.mit.edu	37	chr12	101587498	101587498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtataatcacggatgcaaaTccagccaccatgatcccaac	14	8	6	13	1	1	1	1	1	0	0	3	2	3	2	4	1	3	2	4	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101587498T>C	ENST00000536262.2	-	5	1155	c.597A>G	c.(595-597)ggA>ggG	p.G199G		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	199					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGGATGCAAATCCAGCCACCA	0.393													C	101587498	T	C	101587498	2	2	364	1	0	0	0	0	0	0	0	1	14765	1422	50	3		3	SLC5A8	12	101587498	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	254340	101587498	32264397	9879	33381											
SLC5A8	160728	broad.mit.edu	37	chr12	101588872	101588872	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaatatgtcctggacgtaCcagtgtgcagtagaatgtgc	11	10	13	7	1	0	1	0	0	0	1	1	3	1	3	2	2	3	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101588872C>A	ENST00000536262.2	-	4	1096		c.e4+1			NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8						apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CCTGGACGTACCAGTGTGCAG	0.428													A	101588872	C	A	101588872	5	1	364	1	0	0	0	0	0	0	1	0	14765	521	18	4	1342	4	SLC5A8	12	101588872	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1374	101588872	32263023	9880	33382											
SLC5A8	160728	broad.mit.edu	37	chr12	101598314	101598314	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggactgttccacagagacgAacacatttgttaaatcgaag	15	9	9	8	2	0	1	0	0	0	1	2	5	1	2	1	1	1	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101598314A>G	ENST00000536262.2	-	2	939	c.381T>C	c.(379-381)gtT>gtC	p.V127V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	127					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAGACGAACACATTTGT	0.333													G	101598314	A	G	101598314	2	3	364	1	0	0	0	0	0	0	0	1	14765	233	9	3		3	SLC5A8	12	101598314	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9442	101598314	32253581	9881	33383											
SLC5A8	160728	broad.mit.edu	37	chr12	101603623	101603623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgatgccccgtggcgtgtCcatggccgcacggtcgcctg	3	7	15	16	6	0	0	0	0	0	0	2	1	1	0	6	3	1	1	6	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101603623C>A	ENST00000536262.2	-	1	562	c.4G>T	c.(4-6)Gac>Tac	p.D2Y		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	2					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGTGGCGTGTCCATGGCCGCA	0.706													A	101603623	C	A	101603623	3	1	364	1	0	0	0	0	1	0	0	0	14765	855	30	4	1888	4	SLC5A8	12	101603623	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5309	101603623	32248272	9882	33384											
UTP20	27340	broad.mit.edu	37	chr12	101702006	101702006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtctttgctatattacGccaggcagaacttgttccag	8	14	9	10	1	2	1	0	0	2	1	3	1	3	1	2	1	3	3	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101702006G>A	ENST00000261637.4	+	18	2213	c.2039G>A	c.(2038-2040)cGc>cAc	p.R680H		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	680					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GCTATATTACGCCAGGCAGAA	0.418													A	101702006	G	A	101702006	3	1	364	1	0	0	0	0	1	0	0	0	17201	1087	38	1	2109	1	UTP20	12	101702006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98383	101702006	32149889	9883	33385											
UTP20	27340	broad.mit.edu	37	chr12	101720944	101720944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgcatggccattgtcctgCggttcctggccgggacccaa	5	8	12	16	3	0	0	0	0	0	0	2	1	2	1	6	4	1	2	6	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101720944C>T	ENST00000261637.4	+	26	3301	c.3127C>T	c.(3127-3129)Cgg>Tgg	p.R1043W		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1043					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						CATTGTCCTGCGGTTCCTGGC	0.478													T	101720944	C	T	101720944	3	4	364	1	0	0	0	0	1	0	0	0	17201	759	27	1	3229	1	UTP20	12	101720944	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18938	101720944	32130951	9884	33386											
UTP20	27340	broad.mit.edu	37	chr12	101757465	101757465	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacgactcttatgaaatcCtcggcaagtttgtaggaaaa	13	12	9	7	2	1	1	0	1	1	0	3	3	2	2	1	2	1	4	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101757465C>A	ENST00000261637.4	+	45	6076	c.5902C>A	c.(5902-5904)Ctc>Atc	p.L1968I		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1968					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						TTATGAAATCCTCGGCAAGTT	0.403													A	101757465	C	A	101757465	3	1	364	1	0	0	0	0	1	0	0	0	17201	681	24	4	6080	4	UTP20	12	101757465	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36521	101757465	32094430	9885	33387											
UTP20	27340	broad.mit.edu	37	chr12	101769479	101769479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgataactaaacttatcaaGgaatgtaatattattcagtt	16	15	5	5	0	2	1	2	1	0	0	2	2	2	2	0	1	2	2	0	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:101769479G>T	ENST00000261637.4	+	56	7515	c.7341G>T	c.(7339-7341)aaG>aaT	p.K2447N		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	2447					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						AACTTATCAAGGAATGTAATA	0.313													T	101769479	G	T	101769479	3	4	364	1	0	0	0	0	1	0	0	0	17201	991	35	4	7563	4	UTP20	12	101769479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12014	101769479	32082416	9886	33388											
MYBPC1	4604	broad.mit.edu	37	chr12	102020663	102020663	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcagatgaagaggaagtCtccccgcctagcgccttgcc	8	9	11	13	2	2	3	1	1	1	2	3	4	2	4	5	1	2	1	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102020663C>A	ENST00000549145.1	+	4	217	c.117C>A	c.(115-117)gtC>gtA	p.V39V	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Intron|MYBPC1_ENST00000361466.2_Silent_p.V39V|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000547509.1_Intron|MYBPC1_ENST00000541119.1_Intron|MYBPC1_ENST00000545503.2_Intron|MYBPC1_ENST00000441232.1_Intron|MYBPC1_ENST00000547405.1_Intron|MYBPC1_ENST00000550270.1_Intron|MYBPC1_ENST00000361685.2_Silent_p.V39V|MYBPC1_ENST00000360610.2_Intron|MYBPC1_ENST00000553190.1_Intron|MYBPC1_ENST00000452455.2_Intron|MYBPC1_ENST00000392934.3_Silent_p.V13V			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	35					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						AAGAGGAAGTCTCCCCGCCTA	0.398													A	102020663	C	A	102020663	2	1	364	1	0	0	0	0	0	0	0	1	10087	900	32	4		4	MYBPC1	12	102020663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251184	102020663	31831232	9887	33389											
MYBPC1	4604	broad.mit.edu	37	chr12	102036200	102036200	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttctccccggttagggaGgtgaagcagcaggaggaaga	10	7	17	7	1	1	2	0	1	1	1	2	5	1	5	2	6	2	4	2	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102036200G>T	ENST00000549145.1	+	10	733	c.633G>T	c.(631-633)gaG>gaT	p.E211D	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E179D|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000551300.1_Missense_Mutation_p.E99D|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E184D|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E186D|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E172D|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E223D|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E198D|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E198D|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E185D			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	198					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						CGGTTAGGGAGGTGAAGCAGC	0.498													T	102036200	G	T	102036200	3	4	364	1	0	0	0	0	1	0	0	0	10087	991	35	4	711	4	MYBPC1	12	102036200	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15537	102036200	31815695	9888	33390											
MYBPC1	4604	broad.mit.edu	37	chr12	102041871	102041871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatacaactgcttattGtggggagagagtggaattag	13	10	15	3	0	0	2	0	0	0	2	0	6	0	5	0	4	3	1	0	4	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102041871G>A	ENST00000549145.1	+	13	1203	c.1103G>A	c.(1102-1104)tGt>tAt	p.C368Y	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.C336Y|MYBPC1_ENST00000361466.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000551300.1_Missense_Mutation_p.C256Y|MYBPC1_ENST00000547509.1_Missense_Mutation_p.C341Y|MYBPC1_ENST00000541119.1_Missense_Mutation_p.C343Y|MYBPC1_ENST00000545503.2_Missense_Mutation_p.C355Y|MYBPC1_ENST00000441232.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000547405.1_Missense_Mutation_p.C329Y|MYBPC1_ENST00000550270.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000361685.2_Missense_Mutation_p.C380Y|MYBPC1_ENST00000360610.2_Missense_Mutation_p.C355Y|RP11-755O11.2_ENST00000547027.1_RNA|MYBPC1_ENST00000553190.1_Missense_Mutation_p.C355Y|MYBPC1_ENST00000452455.2_Missense_Mutation_p.C355Y|RP11-755O11.2_ENST00000552081.1_RNA|MYBPC1_ENST00000392934.3_Missense_Mutation_p.C342Y			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	355	Ig-like C2-type 3.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						ACTGCTTATTGTGGGGAGAGA	0.378													A	102041871	G	A	102041871	3	1	364	1	0	0	0	0	1	0	0	0	10087	1377	48	2	1193	2	MYBPC1	12	102041871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5671	102041871	31810024	9889	33391											
GNPTAB	79158	broad.mit.edu	37	chr12	102158793	102158793	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttggtccctcccttgtGtccacctccactgttatctg	4	16	7	14	0	1	0	0	0	1	0	5	0	5	0	5	1	0	2	5	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158793G>A	ENST00000299314.7	-	13	2164	c.1902C>T	c.(1900-1902)gaC>gaT	p.D634D		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	634					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CCTCCCTTGTGTCCACCTCCA	0.408													A	102158793	G	A	102158793	2	1	364	1	0	0	0	0	0	0	0	1	6601	1368	48	2		2	GNPTAB	12	102158793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116922	102158793	31693102	9890	33392											
GNPTAB	79158	broad.mit.edu	37	chr12	102158832	102158832	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcattttgaactcttcatcGtttgtattttgaaacgtgag	9	18	8	6	2	2	3	1	3	1	0	3	3	2	3	0	0	3	3	0	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:102158832G>A	ENST00000299314.7	-	13	2125	c.1863C>T	c.(1861-1863)aaC>aaT	p.N621N		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	621					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTCTTCATCGTTTGTATTTT	0.403													A	102158832	G	A	102158832	2	1	364	1	0	0	0	0	0	0	0	1	6601	1136	40	1		1	GNPTAB	12	102158832	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39	102158832	31693063	9891	33393											
PAH	5053	broad.mit.edu	37	chr12	103310897	103310897	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctgggttttccaggacCgcagtggacatgctggctcc	7	9	13	12	1	0	0	0	0	0	0	2	2	2	2	4	4	2	4	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:103310897C>T	ENST00000553106.1	-	1	484	c.12G>A	c.(10-12)gcG>gcA	p.A4A	PAH_ENST00000307000.2_5'UTR|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	4					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	TTTCCAGGACCGCAGTGGACA	0.577													T	103310897	C	T	103310897	2	4	364	1	0	0	0	0	0	0	0	1	11470	639	23	1		1	PAH	12	103310897	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1152065	103310897	30540998	9892	33394											
HSP90B1	7184	broad.mit.edu	37	chr12	104335272	104335272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttatttgtacccacatctGctccacgtggtctgtttgac	6	17	7	11	1	2	1	0	1	2	0	3	1	3	1	2	1	2	3	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104335272G>A	ENST00000299767.5	+	9	1359	c.1177G>A	c.(1177-1179)Gct>Act	p.A393T		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	393					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	ACCCACATCTGCTCCACGTGG	0.368													A	104335272	G	A	104335272	3	1	364	1	0	0	0	0	1	0	0	0	7460	1319	46	2	1211	2	HSP90B1	12	104335272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1024375	104335272	29516623	9893	33395											
HSP90B1	7184	broad.mit.edu	37	chr12	104337581	104337581	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttggtggccagccagtaCggatggtctggcaacatgga	8	9	15	9	1	1	0	0	0	1	0	1	2	1	2	2	6	3	3	2	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104337581C>T	ENST00000299767.5	+	14	2138	c.1956C>T	c.(1954-1956)taC>taT	p.Y652Y		NM_003299.2	NP_003290.1	P14625	ENPL_HUMAN	heat shock protein 90kDa beta (Grp94), member 1	652					actin rod assembly|anti-apoptosis|cellular response to ATP|ER-associated protein catabolic process|protein folding|protein transport|regulation of phosphoprotein phosphatase activity|response to hypoxia|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|endoplasmic reticulum membrane|melanosome|microsome|midbody|perinuclear region of cytoplasm	ATP binding|calcium ion binding|low-density lipoprotein particle receptor binding|protein phosphatase binding|RNA binding|unfolded protein binding|virion binding			central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(4)	29					Rifabutin(DB00615)	CCAGCCAGTACGGATGGTCTG	0.473													T	104337581	C	T	104337581	2	4	364	1	0	0	0	0	0	0	0	1	7460	547	19	1		1	HSP90B1	12	104337581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2309	104337581	29514314	9894	33396											
HCFC2	29915	broad.mit.edu	37	chr12	104490205	104490205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacatgctacagcaacgccGttttctgtaagtacatgacc	12	10	7	12	2	1	1	0	1	1	0	1	1	1	1	2	0	5	5	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:104490205G>A	ENST00000229330.4	+	12	1838	c.1734G>A	c.(1732-1734)ccG>ccA	p.P578P	HCFC2_ENST00000550335.1_3'UTR	NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	578					regulation of transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus	transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAGCAACGCCGTTTTCTGTAA	0.343													A	104490205	G	A	104490205	2	1	364	1	0	0	0	0	0	0	0	1	7048	1132	40	1		1	HCFC2	12	104490205	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152624	104490205	29361690	9895	33397											
ALDH1L2	160428	broad.mit.edu	37	chr12	105420437	105420437	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtttttcactcacatacaTagctttgtttatgtctcttg	8	19	5	9	0	3	0	2	0	1	0	4	0	3	0	0	0	2	3	0	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105420437T>C	ENST00000258494.9	-	22	2742	c.2602A>G	c.(2602-2604)Atg>Gtg	p.M868V	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	868	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CTCACATACATAGCTTTGTTT	0.423													C	105420437	T	C	105420437	3	2	364	1	0	0	0	0	1	0	0	0	495	1406	49	3	177	3	ALDH1L2	12	105420437	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	930232	105420437	28431458	9896	33398											
ALDH1L2	160428	broad.mit.edu	37	chr12	105431891	105431891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcttaccattcgcacaGccttgtcaagttcacagtca	9	12	5	15	1	4	0	3	0	1	0	6	0	4	0	3	0	2	2	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105431891G>T	ENST00000258494.9	-	18	2275	c.2135C>A	c.(2134-2136)gCt>gAt	p.A712D	C12orf45_ENST00000548583.1_Intron	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	712	Aldehyde dehydrogenase.			A -> T (in Ref. 1; AAI03935).	10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						CATTCGCACAGCCTTGTCAAG	0.463													T	105431891	G	T	105431891	3	4	364	1	0	0	0	0	1	0	0	0	495	971	34	4	660	4	ALDH1L2	12	105431891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11454	105431891	28420004	9897	33399											
KIAA1033	23325	broad.mit.edu	37	chr12	105551100	105551100	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaacattaaaagcagcaaGgtaatctaaatttggaaata	21	9	7	4	0	1	1	0	0	1	1	1	2	1	2	0	2	3	3	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105551100G>T	ENST00000332180.5	+	28	2999	c.2912G>T	c.(2911-2913)aGg>aTg	p.R971M		NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN	KIAA1033	971					endosome transport	WASH complex				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						AAAGCAGCAAGGTAATCTAAA	0.274													T	105551100	G	T	105551100	5	4	364	1	0	0	0	0	0	0	1	0	8264	1014	35	4	3022	4	KIAA1033	12	105551100	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119209	105551100	28300795	9898	33400											
APPL2	55198	broad.mit.edu	37	chr12	105570695	105570695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaaatgtatgtactcaGagattcttctccagtggatt	12	15	7	7	0	4	1	2	0	2	1	5	3	4	2	1	1	1	2	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:105570695G>T	ENST00000258530.3	-	19	1996	c.1771C>A	c.(1771-1773)Ctg>Atg	p.L591M	APPL2_ENST00000551662.1_Missense_Mutation_p.L597M|APPL2_ENST00000539978.2_Missense_Mutation_p.L548M	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	591	PID.				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TATGTACTCAGAGATTCTTCT	0.393													T	105570695	G	T	105570695	3	4	364	1	0	0	0	0	1	0	0	0	821	933	33	4	235	4	APPL2	12	105570695	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19595	105570695	28281200	9899	33401											
NUAK1	9891	broad.mit.edu	37	chr12	106460608	106460608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttgctgcagatctccagcGcttgcttgtagacctgagtc	6	12	11	12	1	1	3	0	1	1	2	3	3	1	3	2	0	4	6	2	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460608G>A	ENST00000261402.2	-	7	3337	c.1958C>T	c.(1957-1959)gCg>gTg	p.A653V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	653							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GATCTCCAGCGCTTGCTTGTA	0.632													A	106460608	G	A	106460608	3	1	364	1	0	0	0	0	1	0	0	0	10788	1087	38	1	31	1	NUAK1	12	106460608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	889913	106460608	27391287	9900	33402											
NUAK1	9891	broad.mit.edu	37	chr12	106460869	106460869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacactggaagggcggCtgtagctccgggagaggccc	8	6	17	10	2	0	3	0	2	0	1	1	5	1	4	2	5	1	3	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106460869C>T	ENST00000261402.2	-	7	3076	c.1697G>A	c.(1696-1698)aGc>aAc	p.S566N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	566							ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.S566I(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						GGAAGGGCGGCTGTAGCTCCG	0.637													T	106460869	C	T	106460869	3	4	364	1	0	0	0	0	1	0	0	0	10788	797	28	2	292	2	NUAK1	12	106460869	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261	106460869	27391026	9901	33403											
NUAK1	9891	broad.mit.edu	37	chr12	106461707	106461707	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgatcggggttcaccatcaGcatccaccgtatgagtcctc	8	9	10	14	3	2	1	2	1	0	0	6	2	4	1	4	2	1	3	4	2	1	2	rs56311486	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106461707G>T	ENST00000261402.2	-	7	2238	c.859C>A	c.(859-861)Ctg>Atg	p.L287M		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	287	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						TTCACCATCAGCATCCACCGT	0.547													T	106461707	G	T	106461707	3	4	364	1	0	0	0	0	1	0	0	0	10788	962	34	4	1130	4	NUAK1	12	106461707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	838	106461707	27390188	9902	33404											
CKAP4	10970	broad.mit.edu	37	chr12	106633424	106633424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtgcctcaaaggcttccGagtgtctgaagcctccgtcc	7	9	12	13	2	2	1	1	1	1	0	5	3	5	2	5	2	2	1	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106633424G>A	ENST00000378026.4	-	2	1323	c.1187C>T	c.(1186-1188)tCg>tTg	p.S396L		NM_006825.3	NP_006816.2	Q07065	CKAP4_HUMAN	cytoskeleton-associated protein 4	396						ER-Golgi intermediate compartment membrane|integral to membrane|membrane fraction				NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|pancreas(1)|urinary_tract(1)	20						AAAGGCTTCCGAGTGTCTGAA	0.637													A	106633424	G	A	106633424	3	1	364	1	0	0	0	0	1	0	0	0	3475	1059	37	1	625	1	CKAP4	12	106633424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171717	106633424	27218471	9903	33405											
POLR3B	55703	broad.mit.edu	37	chr12	106903274	106903274	+	Silent	SNP	C	C	T																															gcaagctgctcttccaggaaCtacagtctatgaacatcatc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903274C>T	ENST00000228347.4	+	28	3571	c.3349C>T	c.(3349-3351)Cta>Tta	p.L1117L	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Silent_p.L1059L	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1117					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CTTCCAGGAACTACAGTCTAT	0.443													T	106903274	C	T	106903274	2	4	364	1	0	0	0	0	0	0	0	1	12306	564	20	2		2	POLR3B	12	106903274	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269850	106903274	26948621	9904	33406	91	2									
POLR3B	55703	broad.mit.edu	37	chr12	106903277	106903277	+	Nonsense_Mutation	SNP	C	C	T																															agctgctcttccaggaactaCagtctatgaacatcatcccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:106903277C>T	ENST00000228347.4	+	28	3574	c.3352C>T	c.(3352-3354)Cag>Tag	p.Q1118*	RP11-144F15.1_ENST00000551505.1_Intron|POLR3B_ENST00000539066.1_Nonsense_Mutation_p.Q1060*	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	1118					innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CCAGGAACTACAGTCTATGAA	0.443													T	106903277	C	T	106903277	4	4	364	1	0	0	0	0	0	1	0	0	12306	479	17	2	3462	2	POLR3B	12	106903277	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	106903277	26948618	9905	33407	91	2									
RFX4	5992	broad.mit.edu	37	chr12	107033141	107033141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaataatagagcatccaaGccccactccactcctgctac	14	7	5	15	0	0	1	0	0	0	1	3	2	3	1	5	0	4	2	5	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107033141G>A	ENST00000392842.1	+	3	576	c.162G>A	c.(160-162)aaG>aaA	p.K54K	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Silent_p.K63K	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	54					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GAGCATCCAAGCCCCACTCCA	0.383													A	107033141	G	A	107033141	2	1	364	1	0	0	0	0	0	0	0	1	13353	962	34	2		2	RFX4	12	107033141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129864	107033141	26818754	9906	33408											
RFX4	5992	broad.mit.edu	37	chr12	107155035	107155035	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgagcagtactcccagaCtgcatcctaccccagtcact	10	9	7	15	0	1	3	1	2	0	1	3	3	3	3	4	0	4	3	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107155035C>A	ENST00000392842.1	+	18	2410	c.1996C>A	c.(1996-1998)Ctg>Atg	p.L666M	RFX4_ENST00000229387.5_Missense_Mutation_p.L572M|RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000357881.4_Missense_Mutation_p.L675M	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	666					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TACTCCCAGACTGCATCCTAC	0.517													A	107155035	C	A	107155035	3	1	364	1	0	0	0	0	1	0	0	0	13353	564	20	4	2271	4	RFX4	12	107155035	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121894	107155035	26696860	9907	33409											
MTERFD3	80298	broad.mit.edu	37	chr12	107372068	107372068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctcttggtctttaataGtaaagaaagattctggaaac	13	14	9	5	0	3	2	0	0	3	2	4	3	3	3	0	3	1	2	0	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107372068G>T	ENST00000552029.1	-	2	2493	c.425C>A	c.(424-426)aCt>aAt	p.T142N	MTERFD3_ENST00000240050.4_Missense_Mutation_p.T142N|MTERFD3_ENST00000392830.2_Missense_Mutation_p.T142N|C12orf23_ENST00000551237.1_Intron			Q49AM1	MTER3_HUMAN	MTERF domain containing 3	142					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial nucleoid	transcription regulatory region DNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)	7						GTCTTTAATAGTAAAGAAAGA	0.393													T	107372068	G	T	107372068	3	4	364	1	0	0	0	0	1	0	0	0	9997	1029	36	4	736	4	MTERFD3	12	107372068	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217033	107372068	26479827	9908	33410											
CRY1	1407	broad.mit.edu	37	chr12	107395143	107395143	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggataagccatctgtatcaAaacctacaagaaagaaaaga	21	6	7	7	0	2	3	1	0	1	3	2	4	2	4	2	1	3	1	2	1	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395143A>C	ENST00000008527.5	-	5	1466	c.599T>G	c.(598-600)tTt>tGt	p.F200C		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	200					DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						ATCTGTATCAAAACCTACAAG	0.348													C	107395143	A	C	107395143	3	2	364	1	0	0	0	0	1	0	0	0	3934	14	1	5	1193	5	CRY1	12	107395143	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23075	107395143	26456752	9909	33411											
CRY1	1407	broad.mit.edu	37	chr12	107395629	107395629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctatcacttctgaagtaaTtgtctctactggtatctcta	9	18	5	9	0	5	1	1	1	4	0	7	1	5	1	0	1	1	2	0	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:107395629T>C	ENST00000008527.5	-	4	1375	c.508A>G	c.(508-510)Att>Gtt	p.I170V		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome 1 (photolyase-like)	170	DNA photolyase.				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	blue light photoreceptor activity|DNA photolyase activity|double-stranded DNA binding|nucleotide binding|protein binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						TCTGAAGTAATTGTCTCTACT	0.413													C	107395629	T	C	107395629	3	2	364	1	0	0	0	0	1	0	0	0	3934	1493	52	3	1288	3	CRY1	12	107395629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	486	107395629	26456266	9910	33412											
PWP1	11137	broad.mit.edu	37	chr12	108102935	108102935	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtctcgtgactgcttcaGctgacaaatacgtgaagatc	10	11	10	10	2	2	4	1	3	1	1	4	4	2	4	0	0	3	3	0	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102935G>A	ENST00000412830.3	+	13	1384	c.1216G>A	c.(1216-1218)Gct>Act	p.A406T	PWP1_ENST00000541166.1_Missense_Mutation_p.A344T	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	406					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						GACTGCTTCAGCTGACAAATA	0.403													A	108102935	G	A	108102935	3	1	364	1	0	0	0	0	1	0	0	0	12931	971	34	2	1266	2	PWP1	12	108102935	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	707306	108102935	25748960	9911	33413											
PWP1	11137	broad.mit.edu	37	chr12	108102955	108102955	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacaaatacgtgaagatCtgggacatcttaggagatag	14	9	12	6	1	2	4	0	2	2	2	2	6	2	5	0	2	1	1	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108102955C>A	ENST00000412830.3	+	13	1404	c.1236C>A	c.(1234-1236)atC>atA	p.I412I	PWP1_ENST00000541166.1_Silent_p.I350I	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	412					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						ACGTGAAGATCTGGGACATCT	0.398													A	108102955	C	A	108102955	2	1	364	1	0	0	0	0	0	0	0	1	12931	903	32	4		4	PWP1	12	108102955	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	108102955	25748940	9912	33414											
PWP1	11137	broad.mit.edu	37	chr12	108104204	108104204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttctcttctgttcttcatGttgccctgatttgccattta	5	20	6	10	0	4	1	1	1	3	0	5	1	4	1	2	0	2	3	2	0	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108104204G>A	ENST00000412830.3	+	14	1481	c.1313G>A	c.(1312-1314)tGt>tAt	p.C438Y	PWP1_ENST00000541166.1_Missense_Mutation_p.C376Y	NM_007062.1	NP_008993.1	Q13610	PWP1_HUMAN	PWP1 homolog (S. cerevisiae)	438					transcription, DNA-dependent	nucleus				breast(3)|endometrium(4)|kidney(1)|large_intestine(8)|lung(6)|urinary_tract(1)	23						TGTTCTTCATGTTGCCCTGAT	0.413													A	108104204	G	A	108104204	3	1	364	1	0	0	0	0	1	0	0	0	12931	1377	48	2	1367	2	PWP1	12	108104204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1249	108104204	25747691	9913	33415											
WSCD2	9671	broad.mit.edu	37	chr12	108618605	108618605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccatgctgaacatgtctGtggacaaatgcgtggacttc	9	11	11	10	1	1	1	0	1	1	0	2	3	1	3	1	2	4	1	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108618605G>A	ENST00000332082.4	+	6	1590	c.772G>A	c.(772-774)Gtg>Atg	p.V258M	WSCD2_ENST00000549903.1_Missense_Mutation_p.V258M|WSCD2_ENST00000547525.1_Missense_Mutation_p.V258M|WSCD2_ENST00000261400.3_Missense_Mutation_p.V258M			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	258	WSC 2.					integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						GAACATGTCTGTGGACAAATG	0.587													A	108618605	G	A	108618605	3	1	364	1	0	0	0	0	1	0	0	0	17509	1377	48	2	786	2	WSCD2	12	108618605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	514401	108618605	25233290	9914	33416											
FICD	11153	broad.mit.edu	37	chr12	108910886	108910886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctgccgctgggggCtgtggaggagcagtgcttgg	3	9	19	10	1	0	0	0	0	0	0	0	2	0	2	2	5	5	6	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108910886C>T	ENST00000552695.1	+	2	372	c.137C>T	c.(136-138)gCt>gTt	p.A46V	FICD_ENST00000552758.1_Missense_Mutation_p.A46V|FICD_ENST00000361549.2_Missense_Mutation_p.A46V	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	46					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCGCTGGGGGCTGTGGAGGAG	0.657													T	108910886	C	T	108910886	3	4	364	1	0	0	0	0	1	0	0	0	5936	797	28	2	139	2	FICD	12	108910886	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292281	108910886	24941009	9915	33417											
FICD	11153	broad.mit.edu	37	chr12	108912950	108912950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccttagcccattataaaCtcgtttacatccaccctttc	10	13	3	15	1	0	0	0	0	0	0	3	0	1	0	4	0	4	1	4	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108912950C>T	ENST00000552695.1	+	3	1310	c.1075C>T	c.(1075-1077)Ctc>Ttc	p.L359F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	359	Fido.				negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CCATTATAAACTCGTTTACAT	0.542													T	108912950	C	T	108912950	3	4	364	1	0	0	0	0	1	0	0	0	5936	565	20	2	1081	2	FICD	12	108912950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2064	108912950	24938945	9916	33418											
FICD	11153	broad.mit.edu	37	chr12	108913162	108913162	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaccaccctggacaccctGctttttgccacaactgagta	10	9	8	14	0	0	2	0	1	0	1	0	4	0	3	4	1	3	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108913162G>C	ENST00000552695.1	+	3	1522	c.1287G>C	c.(1285-1287)ctG>ctC	p.L429L	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	429					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						TGGACACCCTGCTTTTTGCCA	0.557													C	108913162	G	C	108913162	2	2	364	1	0	0	0	0	0	0	0	1	5936	1306	46	4		4	FICD	12	108913162	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212	108913162	24938733	9917	33419											
SART3	9733	broad.mit.edu	37	chr12	108920130	108920130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggttgctgacaaagaCggtgatgctgtccttgctgc	7	10	15	9	1	0	3	0	2	0	1	1	3	1	3	1	3	4	5	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108920130C>T	ENST00000228284.3	-	16	2350	c.2116G>A	c.(2116-2118)Gtc>Atc	p.V706I	SART3_ENST00000431469.2_Missense_Mutation_p.V670I	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	706	RRM 1.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CTGACAAAGACGGTGATGCTG	0.602									Porokeratosis				T	108920130	C	T	108920130	3	4	364	1	0	0	0	0	1	0	0	0	13939	536	19	1	791	1	SART3	12	108920130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6968	108920130	24931765	9918	33420											
TMEM119	338773	broad.mit.edu	37	chr12	108985995	108985995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccggggtccagggtggCgggaggctcggggaggaggc	5	3	25	8	3	0	0	0	0	0	0	2	3	1	3	2	11	0	1	2	11	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:108985995C>T	ENST00000392806.3	-	2	333	c.165G>A	c.(163-165)ccG>ccA	p.P55P		NM_181724.2	NP_859075.2	Q4V9L6	TM119_HUMAN	transmembrane protein 119	55						integral to membrane		p.P55P(1)		large_intestine(2)|lung(3)|ovary(1)|skin(1)	7						TCCAGGGTGGCGGGAGGCTCG	0.706													T	108985995	C	T	108985995	2	4	364	1	0	0	0	0	0	0	0	1	16132	755	27	1		1	TMEM119	12	108985995	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65865	108985995	24865900	9919	33421											
CORO1C	23603	broad.mit.edu	37	chr12	109095064	109095064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcttgcccaaatacatgccGaaacttgctctgtcgtacca	10	10	7	14	3	1	0	0	0	1	0	2	1	1	0	3	0	6	3	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109095064G>A	ENST00000261401.3	-	2	203	c.31C>T	c.(31-33)Cgg>Tgg	p.R11W	CORO1C_ENST00000549384.1_Intron|CORO1C_ENST00000541050.1_Missense_Mutation_p.R11W|CORO1C_ENST00000420959.2_Missense_Mutation_p.R64W|CORO1C_ENST00000549772.1_Missense_Mutation_p.R17W	NM_001105237.2|NM_001276471.1|NM_014325.2	NP_001098707.1|NP_001263400.1|NP_055140.1	Q9ULV4	COR1C_HUMAN	coronin, actin binding protein, 1C	11					actin cytoskeleton organization|phagocytosis|signal transduction	actin cytoskeleton	actin filament binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|skin(4)	24						AATACATGCCGAAACTTGCTC	0.443													A	109095064	G	A	109095064	3	1	364	1	0	0	0	0	1	0	0	0	3786	1057	37	1	1433	1	CORO1C	12	109095064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109069	109095064	24756831	9920	33422											
ACACB	32	broad.mit.edu	37	chr12	109577714	109577714	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccaacttcatcctgggCtcttttgatgactactcctc	8	14	6	13	0	2	3	1	3	1	0	5	3	4	3	3	1	2	1	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109577714C>A	ENST00000338432.7	+	2	623	c.504C>A	c.(502-504)ggC>ggA	p.G168G	ACACB_ENST00000377854.5_Silent_p.G168G|ACACB_ENST00000377848.3_Silent_p.G168G			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	168					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCATCCTGGGCTCTTTTGATG	0.607													A	109577714	C	A	109577714	2	1	364	1	0	0	0	0	0	0	0	1	107	784	28	4		4	ACACB	12	109577714	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	482650	109577714	24274181	9921	33423											
ACACB	32	broad.mit.edu	37	chr12	109614053	109614053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagagtgcggaggacttcccGatccttttcagacaagtgag	10	9	13	9	2	1	3	1	1	0	2	3	7	3	5	2	2	1	0	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109614053G>A	ENST00000338432.7	+	9	1541	c.1422G>A	c.(1420-1422)ccG>ccA	p.P474P	ACACB_ENST00000377854.5_Silent_p.P474P|ACACB_ENST00000377848.3_Silent_p.P474P|ACACB_ENST00000543080.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	474	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGGACTTCCCGATCCTTTTCA	0.478													A	109614053	G	A	109614053	2	1	364	1	0	0	0	0	0	0	0	1	107	1045	37	1		1	ACACB	12	109614053	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36339	109614053	24237842	9922	33424											
ACACB	32	broad.mit.edu	37	chr12	109644624	109644624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctcaccaacgtcatgaGtggcttttgtctgccagagc	10	10	9	12	1	3	2	2	1	1	1	3	2	3	2	3	1	4	1	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109644624G>A	ENST00000338432.7	+	20	3142	c.3023G>A	c.(3022-3024)aGt>aAt	p.S1008N	ACACB_ENST00000377854.5_Missense_Mutation_p.S1008N|ACACB_ENST00000377848.3_Missense_Mutation_p.S1008N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1008					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AACGTCATGAGTGGCTTTTGT	0.547													A	109644624	G	A	109644624	3	1	364	1	0	0	0	0	1	0	0	0	107	1029	36	2	3097	2	ACACB	12	109644624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30571	109644624	24207271	9923	33425											
ACACB	32	broad.mit.edu	37	chr12	109673127	109673127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatgcagaaaaatatcCttgtggattatggactccga	13	14	8	6	1	0	1	0	0	0	1	2	4	2	3	2	2	1	1	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109673127C>A	ENST00000338432.7	+	32	4476	c.4357C>A	c.(4357-4359)Ctt>Att	p.L1453I	ACACB_ENST00000377854.5_Missense_Mutation_p.L1383I|ACACB_ENST00000543201.1_Missense_Mutation_p.L119I|ACACB_ENST00000377848.3_Missense_Mutation_p.L1453I			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1453					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAAAATATCCTTGTGGATTA	0.403													A	109673127	C	A	109673127	3	1	364	1	0	0	0	0	1	0	0	0	107	681	24	4	4479	4	ACACB	12	109673127	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28503	109673127	24178768	9924	33426											
FOXN4	121643	broad.mit.edu	37	chr12	109719221	109719221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagcctcaccctgcagagCgaagtccatgatgctcgggt	8	8	11	14	2	1	2	1	1	0	1	4	3	3	2	4	1	4	2	4	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719221C>T	ENST00000299162.5	-	9	1389	c.1285G>A	c.(1285-1287)Gct>Act	p.A429T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A249T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	429					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						CCCTGCAGAGCGAAGTCCATG	0.612													T	109719221	C	T	109719221	3	4	364	1	0	0	0	0	1	0	0	0	6073	768	27	1	276	1	FOXN4	12	109719221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46094	109719221	24132674	9925	33427											
FOXN4	121643	broad.mit.edu	37	chr12	109719350	109719350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgaggtccggcagggCgtgcagtggcggggtctggg	3	6	24	8	3	1	1	0	1	1	0	2	1	2	1	1	9	1	3	1	9	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109719350C>T	ENST00000299162.5	-	9	1260	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	FOXN4_ENST00000355216.1_Missense_Mutation_p.A206T	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	386					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657													T	109719350	C	T	109719350	3	4	364	1	0	0	0	0	1	0	0	0	6073	768	27	1	405	1	FOXN4	12	109719350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129	109719350	24132545	9926	33428											
MYO1H	283446	broad.mit.edu	37	chr12	109879449	109879449	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtagttacaagtgaaatCttcaggggaaggaaagacgg	16	7	14	4	1	2	2	1	1	1	1	2	4	2	4	0	5	1	2	0	5	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109879449C>A	ENST00000310903.5	+	26	2626	c.2520C>A	c.(2518-2520)atC>atA	p.I840I	MYO1H_ENST00000431443.2_Silent_p.I850I			B4DNW6	B4DNW6_HUMAN	myosin IH	31						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						CAAGTGAAATCTTCAGGGGAA	0.413													A	109879449	C	A	109879449	2	1	364	1	0	0	0	0	0	0	0	1	10151	903	32	4		4	MYO1H	12	109879449	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160099	109879449	23972446	9927	33429											
KCTD10	83892	broad.mit.edu	37	chr12	109889431	109889431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcccggtcatcagggCgcttgatgtggatcctccgc	4	9	16	12	3	2	1	2	1	0	0	4	2	4	2	3	5	0	1	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109889431C>T	ENST00000228495.6	-	7	1192	c.911G>A	c.(910-912)cGc>cAc	p.R304H	KCTD10_ENST00000540411.1_Missense_Mutation_p.R278H|KCTD10_ENST00000424763.2_Missense_Mutation_p.R123H|KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000540089.1_Missense_Mutation_p.R123H	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	304					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						GTCATCAGGGCGCTTGATGTG	0.706													T	109889431	C	T	109889431	3	4	364	1	0	0	0	0	1	0	0	0	8155	768	27	1	34	1	KCTD10	12	109889431	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9982	109889431	23962464	9928	33430											
UBE3B	89910	broad.mit.edu	37	chr12	109926386	109926386	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtttccagcctgaaatcCtgcaggactcccgactcatc	9	11	7	14	1	1	1	1	1	0	0	5	3	4	2	4	1	2	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109926386C>A	ENST00000342494.3	+	7	1052	c.457C>A	c.(457-459)Ctg>Atg	p.L153M	UBE3B_ENST00000434735.2_Missense_Mutation_p.L153M|UBE3B_ENST00000536398.1_Missense_Mutation_p.L153M|UBE3B_ENST00000540230.1_Missense_Mutation_p.L153M|UBE3B_ENST00000537063.1_Missense_Mutation_p.L153M|UBE3B_ENST00000340074.5_Missense_Mutation_p.L153M|UBE3B_ENST00000280774.5_Missense_Mutation_p.L153M	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	153					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GCCTGAAATCCTGCAGGACTC	0.468													A	109926386	C	A	109926386	3	1	364	1	0	0	0	0	1	0	0	0	16982	680	24	4	475	4	UBE3B	12	109926386	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36955	109926386	23925509	9929	33431											
UBE3B	89910	broad.mit.edu	37	chr12	109945392	109945392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacttaccttgatgacctgCttcccaaactgtgggcattt	8	14	7	12	0	1	2	1	2	0	0	2	2	2	2	3	1	3	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:109945392C>T	ENST00000342494.3	+	15	2069	c.1474C>T	c.(1474-1476)Ctt>Ttt	p.L492F	UBE3B_ENST00000434735.2_Missense_Mutation_p.L492F|UBE3B_ENST00000535900.1_3'UTR|UBE3B_ENST00000280774.5_Missense_Mutation_p.L492F	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	492					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						TGATGACCTGCTTCCCAAACT	0.493													T	109945392	C	T	109945392	3	4	364	1	0	0	0	0	1	0	0	0	16982	797	28	2	1524	2	UBE3B	12	109945392	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19006	109945392	23906503	9930	33432											
MMAB	326625	broad.mit.edu	37	chr12	110002938	110002938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcactttctgaagctcttCggcaaatgtatggccctttt	8	15	7	11	1	3	1	1	1	2	0	4	1	3	1	1	2	1	3	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110002938C>T	ENST00000545712.2	-	4	727	c.334G>A	c.(334-336)Gaa>Aaa	p.E112K	MMAB_ENST00000540016.1_Missense_Mutation_p.E60K|MMAB_ENST00000266839.5_Missense_Mutation_p.E21K	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	112					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGAAGCTCTTCGGCAAATGTA	0.473													T	110002938	C	T	110002938	3	4	364	1	0	0	0	0	1	0	0	0	9715	893	31	1	442	1	MMAB	12	110002938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57546	110002938	23848957	9931	33433											
TRPV4	59341	broad.mit.edu	37	chr12	110224598	110224598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagcggaaggccttcctcagGaatacggggaaggagcgctc	10	5	16	10	3	1	0	1	0	0	0	3	5	2	4	2	6	3	1	2	6	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110224598G>A	ENST00000418703.2	-	13	2347	c.2253C>T	c.(2251-2253)ttC>ttT	p.F751F	TRPV4_ENST00000541794.1_Silent_p.F704F|TRPV4_ENST00000261740.2_Silent_p.F751F|TRPV4_ENST00000537083.1_Silent_p.F691F|TRPV4_ENST00000536838.1_Silent_p.F717F|TRPV4_ENST00000346520.2_Silent_p.F691F|TRPV4_ENST00000392719.2_Silent_p.F704F|TRPV4_ENST00000544971.1_Silent_p.F644F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	751					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCTTCCTCAGGAATACGGGGA	0.662													A	110224598	G	A	110224598	2	1	364	1	0	0	0	0	0	0	0	1	16699	1165	41	2		2	TRPV4	12	110224598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221660	110224598	23627297	9932	33434											
TRPV4	59341	broad.mit.edu	37	chr12	110232147	110232147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcactgtgccctccagcGgctggtagtaggcggtgaga	7	8	14	12	2	1	1	1	1	0	1	2	2	2	1	2	4	2	3	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110232147G>A	ENST00000418703.2	-	7	1572	c.1478C>T	c.(1477-1479)cCg>cTg	p.P493L	TRPV4_ENST00000541794.1_Missense_Mutation_p.P446L|TRPV4_ENST00000261740.2_Missense_Mutation_p.P493L|TRPV4_ENST00000537083.1_Missense_Mutation_p.P433L|TRPV4_ENST00000536838.1_Missense_Mutation_p.P459L|TRPV4_ENST00000346520.2_Missense_Mutation_p.P433L|TRPV4_ENST00000392719.2_Missense_Mutation_p.P446L|TRPV4_ENST00000544971.1_Missense_Mutation_p.P386L	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	493					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						GCCCTCCAGCGGCTGGTAGTA	0.642													A	110232147	G	A	110232147	3	1	364	1	0	0	0	0	1	0	0	0	16699	1116	39	1	1173	1	TRPV4	12	110232147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7549	110232147	23619748	9933	33435											
GIT2	9815	broad.mit.edu	37	chr12	110429453	110429453	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcagtgttggaggccaCggtgtgtgtttcagatgcct	7	12	15	7	1	1	2	1	1	0	1	1	3	1	3	2	3	2	3	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110429453C>T	ENST00000360185.4	-	2	329	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GIT2_ENST00000457474.2_Silent_p.P55P|GIT2_ENST00000354574.4_Silent_p.P55P|GIT2_ENST00000338373.5_Silent_p.P55P|GIT2_ENST00000547815.1_Silent_p.P55P|GIT2_ENST00000356259.4_Silent_p.P55P|GIT2_ENST00000320063.9_Silent_p.P55P|GIT2_ENST00000343646.5_Silent_p.P55P|GIT2_ENST00000553118.1_Silent_p.P55P|GIT2_ENST00000355312.3_Silent_p.P55P|GIT2_ENST00000551209.1_Silent_p.P55P|GIT2_ENST00000361006.5_Silent_p.P55P	NM_014776.3	NP_055591.2	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	55	Arf-GAP.				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TTGGAGGCCACGGTGTGTGTT	0.438													T	110429453	C	T	110429453	2	4	364	1	0	0	0	0	0	0	0	1	6453	523	19	1		1	GIT2	12	110429453	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197306	110429453	23422442	9934	33436											
ANKRD13A	88455	broad.mit.edu	37	chr12	110456215	110456215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagtggtgccaaactgCgcgtcgatatcacattgctg	11	9	12	9	3	1	0	1	0	0	0	2	2	1	1	1	2	4	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110456215C>T	ENST00000261739.4	+	5	632	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	ANKRD13A_ENST00000550404.1_3'UTR	NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	156										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						TGCCAAACTGCGCGTCGATAT	0.438													T	110456215	C	T	110456215	3	4	364	1	0	0	0	0	1	0	0	0	641	768	27	1	484	1	ANKRD13A	12	110456215	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26762	110456215	23395680	9935	33437											
ANKRD13A	88455	broad.mit.edu	37	chr12	110461861	110461861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttatcagaactaaatccGgattctggggctggaggaca	11	12	11	7	1	2	1	1	0	1	1	3	4	3	4	1	5	1	1	1	5	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110461861G>A	ENST00000261739.4	+	7	911	c.745G>A	c.(745-747)Gga>Aga	p.G249R		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	249										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						AACTAAATCCGGATTCTGGGG	0.348													A	110461861	G	A	110461861	3	1	364	1	0	0	0	0	1	0	0	0	641	1117	39	1	771	1	ANKRD13A	12	110461861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5646	110461861	23390034	9936	33438											
ANKRD13A	88455	broad.mit.edu	37	chr12	110463620	110463620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaggaggaaaaaaagaGatataaaggtaatcaccacc	20	4	10	7	1	1	1	1	0	0	1	1	6	1	3	3	3	0	1	3	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110463620G>T	ENST00000261739.4	+	8	1041	c.875G>T	c.(874-876)aGa>aTa	p.R292I		NM_033121.1	NP_149112.1	Q8IZ07	AN13A_HUMAN	ankyrin repeat domain 13A	292										endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(8)|lung(3)|urinary_tract(1)	16						GAAAAAAAGAGATATAAAGGT	0.398													T	110463620	G	T	110463620	3	4	364	1	0	0	0	0	1	0	0	0	641	942	33	4	905	4	ANKRD13A	12	110463620	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1759	110463620	23388275	9937	33439											
C12orf76	400073	broad.mit.edu	37	chr12	110488836	110488836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatctgccatgttaaagAcactgtgcaccaacttcttc	11	13	6	11	0	2	1	0	0	2	1	3	1	2	1	2	0	3	3	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110488836A>G	ENST00000548191.1	-	2	532	c.275T>C	c.(274-276)gTc>gCc	p.V92A	C12orf76_ENST00000309050.5_Intron|C12orf76_ENST00000548936.1_Intron			Q8N812	CL076_HUMAN	chromosome 12 open reading frame 76	0										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6						CATGTTAAAGACACTGTGCAC	0.468													G	110488836	A	G	110488836	3	3	364	1	0	0	0	0	1	0	0	0	1728	290	10	3		3	C12orf76	12	110488836	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25216	110488836	23363059	9938	33440											
IFT81	28981	broad.mit.edu	37	chr12	110566865	110566865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaagagcatatttagctcGttttttaataaaacttgagg	15	14	8	4	1	0	2	0	1	0	1	1	3	0	2	0	1	3	3	0	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110566865G>A	ENST00000242591.5	+	4	865	c.359G>A	c.(358-360)cGt>cAt	p.R120H	IFT81_ENST00000361948.4_Missense_Mutation_p.R120H|IFT81_ENST00000552912.1_Missense_Mutation_p.R120H	NM_014055.3	NP_054774.2	Q8WYA0	IFT81_HUMAN	intraflagellar transport 81 homolog (Chlamydomonas)	120					cell differentiation|multicellular organismal development|spermatogenesis	intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)	10						TATTTAGCTCGTTTTTTAATA	0.383													A	110566865	G	A	110566865	3	1	364	1	0	0	0	0	1	0	0	0	7623	1145	40	1	369	1	IFT81	12	110566865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78029	110566865	23285030	9939	33441											
ATP2A2	488	broad.mit.edu	37	chr12	110764194	110764194	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctcacaacccgcttaGgtgaatctgtctctgtcatc	7	14	7	13	1	5	1	2	1	4	0	8	1	5	1	1	1	1	1	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110764194G>T	ENST00000395494.2	+	6	1026		c.e6-1		ATP2A2_ENST00000308664.6_Splice_Site|ATP2A2_ENST00000539276.2_Splice_Site			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2						ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						AACCCGCTTAGGTGAATCTGT	0.463													T	110764194	G	T	110764194	5	4	364	1	0	0	0	0	0	0	1	0	1142	1014	35	4	570	4	ATP2A2	12	110764194	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197329	110764194	23087701	9940	33442											
ATP2A2	488	broad.mit.edu	37	chr12	110780139	110780139	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctctgagatggtcctggCggatgacaacttctccacca	8	9	10	14	2	2	2	0	2	2	1	4	4	3	3	4	3	1	0	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110780139C>T	ENST00000395494.2	+	14	2686	c.2123C>T	c.(2122-2124)gCg>gTg	p.A708V	ATP2A2_ENST00000308664.6_Missense_Mutation_p.A735V|ATP2A2_ENST00000539276.2_Missense_Mutation_p.A735V			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	735					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						ATGGTCCTGGCGGATGACAAC	0.552													T	110780139	C	T	110780139	3	4	364	1	0	0	0	0	1	0	0	0	1142	768	27	1	2262	1	ATP2A2	12	110780139	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15945	110780139	23071756	9941	33443											
ATP2A2	488	broad.mit.edu	37	chr12	110783173	110783173	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagtaactatagaaatgtgTaacgccctcaacaggttagt	14	11	8	8	1	1	1	1	0	0	1	1	1	1	1	1	1	3	3	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110783173T>C	ENST00000395494.2	+	17	3209	c.2646T>C	c.(2644-2646)tgT>tgC	p.C882C	ATP2A2_ENST00000308664.6_Silent_p.C909C|ATP2A2_ENST00000539276.2_Silent_p.C909C			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	909					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						TAGAAATGTGTAACGCCCTCA	0.517													C	110783173	T	C	110783173	2	2	364	1	0	0	0	0	0	0	0	1	1142	1644	57	3		3	ATP2A2	12	110783173	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3034	110783173	23068722	9942	33444											
ATP2A2	488	broad.mit.edu	37	chr12	110784072	110784072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaaaatctccttgcccGtgattctcatggatgagacg	9	12	10	10	2	2	3	1	3	2	1	4	5	2	4	2	1	2	1	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110784072G>A	ENST00000395494.2	+	19	3408	c.2845G>A	c.(2845-2847)Gtg>Atg	p.V949M	ATP2A2_ENST00000308664.6_Missense_Mutation_p.V976M|ATP2A2_ENST00000539276.2_Missense_Mutation_p.V976M			P16615	AT2A2_HUMAN	ATPase, Ca++ transporting, cardiac muscle, slow twitch 2	976					ATP biosynthetic process|cell adhesion|epidermis development|platelet activation|sarcoplasmic reticulum calcium ion transport	integral to plasma membrane|microsome|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|protein C-terminus binding|S100 alpha binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	38						CTCCTTGCCCGTGATTCTCAT	0.557													A	110784072	G	A	110784072	3	1	364	1	0	0	0	0	1	0	0	0	1142	1145	40	1	3004	1	ATP2A2	12	110784072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	899	110784072	23067823	9943	33445											
ARPC3	10094	broad.mit.edu	37	chr12	110874914	110874914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttcttcagacattcaGaaatgtagagagttatatat	14	14	8	5	0	3	3	2	0	1	3	3	4	3	3	0	0	0	4	0	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:110874914G>T	ENST00000228825.7	-	4	373	c.227C>A	c.(226-228)tCt>tAt	p.S76Y	RP11-478C19.2_ENST00000550231.1_RNA	NM_001278556.1|NM_005719.2	NP_001265485.1|NP_005710.1	O15145	ARPC3_HUMAN	actin related protein 2/3 complex, subunit 3, 21kDa	76					cellular component movement|regulation of actin filament polymerization	Arp2/3 protein complex|cytoplasm	actin binding|structural constituent of cytoskeleton			lung(1)|ovary(1)	2						CAGACATTCAGAAATGTAGAG	0.348													T	110874914	G	T	110874914	3	4	364	1	0	0	0	0	1	0	0	0	977	942	33	4	325	4	ARPC3	12	110874914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90842	110874914	22976981	9944	33446											
TCTN1	79600	broad.mit.edu	37	chr12	111066763	111066763	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcttttcatcccatcacaAatatctttccttgtaagtta	11	18	2	10	0	4	0	2	0	2	0	6	0	6	0	2	0	0	2	2	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111066763A>C	ENST00000550703.2	+	4	820	c.664A>C	c.(664-666)Aat>Cat	p.N222H	TCTN1_ENST00000551555.2_Intron|HVCN1_ENST00000548312.1_Intron|TCTN1_ENST00000397659.4_Intron|TCTN1_ENST00000377654.3_Intron|TCTN1_ENST00000551590.1_Intron|TCTN1_ENST00000397655.3_Intron			Q2MV58	TECT1_HUMAN	tectonic family member 1	0					multicellular organismal development	extracellular region				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(9)|urinary_tract(1)	15						TCCCATCACAAATATCTTTCC	0.353													C	111066763	A	C	111066763	3	2	364	1	0	0	0	0	1	0	0	0	15822	29	1	5		5	TCTN1	12	111066763	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	191849	111066763	22785132	9945	33447											
HVCN1	84329	broad.mit.edu	37	chr12	111099218	111099218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaagaacttgctcatcctCtcagcgggagccaccttggc	8	10	9	14	1	2	1	2	0	1	1	4	2	3	2	3	2	4	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111099218C>A	ENST00000356742.5	-	3	810	c.57G>T	c.(55-57)gaG>gaT	p.E19D	HVCN1_ENST00000548312.1_Missense_Mutation_p.E19D|HVCN1_ENST00000242607.8_Missense_Mutation_p.E19D|HVCN1_ENST00000439744.2_5'UTR			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	19					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						TGCTCATCCTCTCAGCGGGAG	0.577													A	111099218	C	A	111099218	3	1	364	1	0	0	0	0	1	0	0	0	7520	912	32	4	784	4	HVCN1	12	111099218	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32455	111099218	22752677	9946	33448											
MYL2	4633	broad.mit.edu	37	chr12	111352092	111352092	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttttcacgttcactcGccctagggtaggaaacacac	10	12	7	12	2	3	0	3	0	0	0	4	1	3	1	1	2	1	2	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111352092G>A	ENST00000228841.8	-	4	219	c.172C>T	c.(172-174)Cga>Tga	p.R58*	MYL2_ENST00000548438.1_Nonsense_Mutation_p.R44*	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	58	EF-hand 1.		R -> Q (in CMH10; dbSNP:rs28933099).		cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						ACGTTCACTCGCCCTAGGGTA	0.453													A	111352092	G	A	111352092	4	1	364	1	0	0	0	0	0	1	0	0	10123	1095	38	1	344	1	MYL2	12	111352092	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252874	111352092	22499803	9947	33449											
CUX2	23316	broad.mit.edu	37	chr12	111748382	111748382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccggcccaagccctggcGcaagctcacggtgaagggca	9	3	14	15	3	1	1	1	1	0	0	1	1	1	1	3	4	3	3	3	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111748382G>A	ENST00000261726.6	+	15	1950	c.1796G>A	c.(1795-1797)cGc>cAc	p.R599H		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	599						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AAGCCCTGGCGCAAGCTCACG	0.607													A	111748382	G	A	111748382	3	1	364	1	0	0	0	0	1	0	0	0	4098	1087	38	1	1854	1	CUX2	12	111748382	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	396290	111748382	22103513	9948	33450											
CUX2	23316	broad.mit.edu	37	chr12	111785522	111785522	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagggccctgaggagaacaGcacacccctgaccacccagg	11	2	13	15	0	0	3	0	2	0	1	0	5	0	4	5	4	2	1	5	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785522G>T	ENST00000261726.6	+	22	4008	c.3854G>T	c.(3853-3855)aGc>aTc	p.S1285I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1285						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GAGGAGAACAGCACACCCCTG	0.617													T	111785522	G	T	111785522	3	4	364	1	0	0	0	0	1	0	0	0	4098	971	34	4	3940	4	CUX2	12	111785522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37140	111785522	22066373	9949	33451											
CUX2	23316	broad.mit.edu	37	chr12	111785894	111785894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaggcctcatgatgtCtgtgtcacctgtcccctcct	5	12	7	17	0	4	1	3	1	1	0	6	1	6	1	6	1	0	0	6	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:111785894C>A	ENST00000261726.6	+	22	4380	c.4226C>A	c.(4225-4227)tCt>tAt	p.S1409Y		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1409	Pro-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CTCATGATGTCTGTGTCACCT	0.627													A	111785894	C	A	111785894	3	1	364	1	0	0	0	0	1	0	0	0	4098	913	32	4	4312	4	CUX2	12	111785894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	372	111785894	22066001	9950	33452											
ACAD10	80724	broad.mit.edu	37	chr12	112174796	112174796	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctacagggagtctacaagCgatcactcacaggtaatggg	12	8	11	10	1	3	0	2	0	1	0	4	2	4	1	1	3	3	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112174796C>T	ENST00000455480.2	+	13	1972	c.1795C>T	c.(1795-1797)Cga>Tga	p.R599*	ACAD10_ENST00000313698.4_Nonsense_Mutation_p.R568*|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000549590.1_Nonsense_Mutation_p.R568*|ACAD10_ENST00000392636.2_Nonsense_Mutation_p.R170*	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	568							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						AGTCTACAAGCGATCACTCAC	0.552													T	112174796	C	T	112174796	4	4	364	1	0	0	0	0	0	1	0	0	108	760	27	1	1841	1	ACAD10	12	112174796	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	388902	112174796	21677099	9951	33453											
ACAD10	80724	broad.mit.edu	37	chr12	112184890	112184890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgacacgggcaacatggAgctgctggtgaggtatggca	9	7	16	9	1	0	2	0	2	0	0	0	3	0	3	1	5	3	5	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112184890A>G	ENST00000455480.2	+	16	2564	c.2387A>G	c.(2386-2388)gAg>gGg	p.E796G	ACAD10_ENST00000313698.4_Missense_Mutation_p.E765G|ACAD10_ENST00000413681.3_3'UTR|ACAD10_ENST00000392636.2_Missense_Mutation_p.E367G	NM_001136538.1	NP_001130010.1	Q6JQN1	ACD10_HUMAN	acyl-CoA dehydrogenase family, member 10	765							acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|hydrolase activity|transferase activity, transferring phosphorus-containing groups			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(17)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(5)	47						GGCAACATGGAGCTGCTGGTG	0.547													G	112184890	A	G	112184890	3	3	364	1	0	0	0	0	1	0	0	0	108	304	11	3	2445	3	ACAD10	12	112184890	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10094	112184890	21667005	9952	33454											
ALDH2	217	broad.mit.edu	37	chr12	112229905	112229905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgggagcagcaaccTcaagagagtgaccttggagc	10	7	14	10	0	1	2	1	1	0	1	1	5	1	4	2	2	6	4	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112229905T>C	ENST00000261733.2	+	8	897	c.836T>C	c.(835-837)cTc>cCc	p.L279P	ALDH2_ENST00000416293.3_Missense_Mutation_p.L232P	NM_000690.3	NP_000681.2	P05091	ALDH2_HUMAN	aldehyde dehydrogenase 2 family (mitochondrial)	279					carbohydrate metabolic process|ethanol oxidation|neurotransmitter biosynthetic process|xenobiotic metabolic process	mitochondrial matrix	aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity|electron carrier activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|stomach(1)	22					Disulfiram(DB00822)|Guanidine(DB00536)|NADH(DB00157)|Nitroglycerin(DB00727)	AGCAGCAACCTCAAGAGAGTG	0.557			T	HMGA2	leiomyoma								C	112229905	T	C	112229905	3	2	364	1	0	0	0	0	1	0	0	0	496	1551	54	3	866	3	ALDH2	12	112229905	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45015	112229905	21621990	9953	33455											
NAA25	80018	broad.mit.edu	37	chr12	112481451	112481451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatatccttctcaataaatCgctttcctgtctccagggtt	9	15	6	11	1	2	0	1	0	2	0	7	1	4	0	3	1	0	2	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112481451C>T	ENST00000261745.4	-	18	2476	c.2228G>A	c.(2227-2229)cGa>cAa	p.R743Q		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	743						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCAATAAATCGCTTTCCTGT	0.413													T	112481451	C	T	112481451	3	4	364	1	0	0	0	0	1	0	0	0	10197	884	31	1	718	1	NAA25	12	112481451	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251546	112481451	21370444	9954	33456											
NAA25	80018	broad.mit.edu	37	chr12	112506731	112506731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacaaacaccttaaggtCtgtaaaacaacaaggtttat	17	10	6	8	0	2	0	1	0	1	0	2	0	2	0	1	2	4	2	1	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112506731C>A	ENST00000261745.4	-	11	1350	c.1102G>T	c.(1102-1104)Gac>Tac	p.D368Y		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	368						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ACCTTAAGGTCTGTAAAACAA	0.373													A	112506731	C	A	112506731	3	1	364	1	0	0	0	0	1	0	0	0	10197	913	32	4	1872	4	NAA25	12	112506731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25280	112506731	21345164	9955	33457											
NAA25	80018	broad.mit.edu	37	chr12	112509781	112509781	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatgtggtcctcggagatgGcgagaacttttagattcttc	9	13	12	7	2	1	4	0	0	1	4	4	6	2	4	1	3	1	0	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112509781G>A	ENST00000261745.4	-	10	1202	c.954C>T	c.(952-954)cgC>cgT	p.R318R		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	318						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						CTCGGAGATGGCGAGAACTTT	0.403													A	112509781	G	A	112509781	2	1	364	1	0	0	0	0	0	0	0	1	10197	1190	42	2		2	NAA25	12	112509781	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3050	112509781	21342114	9956	33458											
NAA25	80018	broad.mit.edu	37	chr12	112518933	112518933	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatcttatatagagccatGccagcctaaaagagaaccat	17	8	6	10	0	1	2	0	0	1	2	1	3	1	2	4	0	4	0	4	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112518933G>A	ENST00000261745.4	-	5	656	c.408C>T	c.(406-408)ggC>ggT	p.G136G		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	136						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						ATAGAGCCATGCCAGCCTAAA	0.373													A	112518933	G	A	112518933	2	1	364	1	0	0	0	0	0	0	0	1	10197	1306	46	2		2	NAA25	12	112518933	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9152	112518933	21332962	9957	33459											
NAA25	80018	broad.mit.edu	37	chr12	112528603	112528603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttcaagggctgccacCtcctgtgcaagagtaaaggc	9	8	14	10	0	1	1	1	0	0	1	2	1	2	1	3	3	2	4	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112528603C>A	ENST00000261745.4	-	3	458	c.210G>T	c.(208-210)gaG>gaT	p.E70D		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	70						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						GGGCTGCCACCTCCTGTGCAA	0.413													A	112528603	C	A	112528603	3	1	364	1	0	0	0	0	1	0	0	0	10197	680	24	4	2796	4	NAA25	12	112528603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9670	112528603	21323292	9958	33460											
TRAFD1	10906	broad.mit.edu	37	chr12	112572608	112572608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaaaggaacattggtatGtgtcctacctgtaaggaacc	12	11	10	8	0	1	0	1	0	0	0	2	2	2	2	3	3	3	2	3	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112572608G>A	ENST00000257604.5	+	3	731	c.114G>A	c.(112-114)atG>atA	p.M38I	TRAFD1_ENST00000412615.2_Missense_Mutation_p.M38I	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	38					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						ACATTGGTATGTGTCCTACCT	0.408													A	112572608	G	A	112572608	3	1	364	1	0	0	0	0	1	0	0	0	16548	1377	48	2	120	2	TRAFD1	12	112572608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44005	112572608	21279287	9959	33461											
TRAFD1	10906	broad.mit.edu	37	chr12	112579001	112579001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccaaaggaacattacaGcccaggtttcaattcagaat	16	8	6	11	0	2	1	2	0	0	1	2	2	2	2	3	2	4	1	3	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112579001G>A	ENST00000257604.5	+	5	1233	c.616G>A	c.(616-618)Gcc>Acc	p.A206T	TRAFD1_ENST00000412615.2_Missense_Mutation_p.A206T	NM_001143906.1	NP_001137378.1	O14545	TRAD1_HUMAN	TRAF-type zinc finger domain containing 1	206					negative regulation of innate immune response	intracellular	protein binding|zinc ion binding			kidney(5)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	17						GAACATTACAGCCCAGGTTTC	0.483													A	112579001	G	A	112579001	3	1	364	1	0	0	0	0	1	0	0	0	16548	971	34	2	630	2	TRAFD1	12	112579001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6393	112579001	21272894	9960	33462											
RPL6	6128	broad.mit.edu	37	chr12	112843140	112843140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaaatttgtgagtccacaGctttctgatcaatcttgcgc	10	14	8	9	1	3	2	1	2	2	0	4	2	4	2	1	0	2	2	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112843140G>T	ENST00000424576.2	-	7	940	c.755C>A	c.(754-756)gCt>gAt	p.A252D	RPL6_ENST00000202773.9_Missense_Mutation_p.A252D	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	252				AVDSQILPKIKAIPQLQ -> LWTHKFYQKSKLFLSSS (in Ref. 1; CAA49188).	endocrine pancreas development|regulation of transcription, DNA-dependent|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	DNA binding|RNA binding|structural constituent of ribosome			cervix(1)|large_intestine(6)|lung(3)	10						TGAGTCCACAGCTTTCTGATC	0.378													T	112843140	G	T	112843140	3	4	364	1	0	0	0	0	1	0	0	0	13689	971	34	4	115	4	RPL6	12	112843140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264139	112843140	21008755	9961	33463											
PTPN11	5781	broad.mit.edu	37	chr12	112919928	112919928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctctaaaagaatatggCgtcatgcgtgttaggaacgt	12	12	11	6	3	2	1	1	0	1	1	2	2	2	2	0	2	3	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112919928C>T	ENST00000351677.2	+	10	1341	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G	PTPN11_ENST00000392597.1_Silent_p.G381G	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	381	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						AAGAATATGGCGTCATGCGTG	0.368			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				T	112919928	C	T	112919928	2	4	364	1	0	0	0	0	0	0	0	1	12866	755	27	1		1	PTPN11	12	112919928	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76788	112919928	20931967	9962	33464											
PTPN11	5781	broad.mit.edu	37	chr12	112926976	112926976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcaggattgaagaagaGcaggtaccagcctgagggct	12	5	15	9	1	0	4	0	2	0	2	0	5	0	5	2	3	4	4	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:112926976G>A	ENST00000351677.2	+	13	1794	c.1596G>A	c.(1594-1596)gaG>gaA	p.E532E		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	536					axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TTGAAGAAGAGCAGGTACCAG	0.502			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112926976	G	A	112926976	2	1	364	1	0	0	0	0	0	0	0	1	12866	962	34	2		2	PTPN11	12	112926976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7048	112926976	20924919	9963	33465											
RASAL1	8437	broad.mit.edu	37	chr12	113553534	113553534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcttggtggcaaggtcCtggcggcagtcccccaaggt	7	7	14	13	1	0	0	0	0	0	0	2	0	2	0	4	6	1	3	4	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113553534C>A	ENST00000546530.1	-	11	1194	c.909G>T	c.(907-909)caG>caT	p.Q303H	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.Q303H|RASAL1_ENST00000261729.5_Missense_Mutation_p.Q303H|RASAL1_ENST00000548055.1_Missense_Mutation_p.Q303H	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	303	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						TGGCAAGGTCCTGGCGGCAGT	0.637													A	113553534	C	A	113553534	3	1	364	1	0	0	0	0	1	0	0	0	13151	680	24	4	1553	4	RASAL1	12	113553534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	626558	113553534	20298361	9964	33466											
RASAL1	8437	broad.mit.edu	37	chr12	113554924	113554924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaggaggcggaaccagcCtttaggtggcttctgctgga	7	8	17	9	1	1	0	0	0	1	0	1	3	1	3	2	7	3	3	2	7	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113554924C>A	ENST00000546530.1	-	9	970	c.685G>T	c.(685-687)Ggc>Tgc	p.G229C	RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.G229C|RASAL1_ENST00000261729.5_Missense_Mutation_p.G229C|RASAL1_ENST00000548055.1_Missense_Mutation_p.G229C	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	229					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CGGAACCAGCCTTTAGGTGGC	0.637													A	113554924	C	A	113554924	3	1	364	1	0	0	0	0	1	0	0	0	13151	681	24	4	1785	4	RASAL1	12	113554924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1390	113554924	20296971	9965	33467											
DDX54	79039	broad.mit.edu	37	chr12	113600941	113600941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccagccactcacccccGctcgctgtcaaagtccttgg	7	7	8	19	2	2	0	2	0	0	0	4	0	3	0	6	1	2	2	6	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113600941G>A	ENST00000314045.7	-	16	2104	c.2077C>T	c.(2077-2079)Cgg>Tgg	p.R693W	DDX54_ENST00000306014.5_Missense_Mutation_p.R693W	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	693			R -> Q (in dbSNP:rs11564).		estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTCACCCCCGCTCGCTGTCA	0.642													A	113600941	G	A	113600941	3	1	364	1	0	0	0	0	1	0	0	0	4406	1086	38	1	591	1	DDX54	12	113600941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46017	113600941	20250954	9966	33468											
DDX54	79039	broad.mit.edu	37	chr12	113618863	113618863	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggggtcttccaggtcccaGctgggagggaaggacagaga	10	5	17	9	0	1	1	0	0	1	1	3	5	3	4	2	6	1	1	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113618863G>T	ENST00000314045.7	-	2	202	c.175C>A	c.(175-177)Ctg>Atg	p.L59M	DDX54_ENST00000306014.5_Splice_Site_p.L59M	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	59					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CCAGGTCCCAGCTGGGAGGGA	0.637													T	113618863	G	T	113618863	5	4	364	1	0	0	0	0	0	0	1	0	4406	985	34	4	2549	4	DDX54	12	113618863	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17922	113618863	20233032	9967	33469											
C12orf52	84934	broad.mit.edu	37	chr12	113629341	113629341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacagagccggggccaGcggcagactcccagaagtta	12	3	13	13	2	0	4	0	0	0	4	1	4	1	4	4	3	2	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113629341G>A	ENST00000548278.1	+	4	1221	c.529G>A	c.(529-531)Gcg>Acg	p.A177T	RP11-545P7.4_ENST00000552525.1_RNA|C12orf52_ENST00000552495.1_Missense_Mutation_p.A201T|C12orf52_ENST00000549621.1_Missense_Mutation_p.A177T	NM_032848.1	NP_116237.1	Q96K30	RITA_HUMAN	chromosome 12 open reading frame 52	177	Interaction with tubulin.				negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|neurogenesis|Notch signaling pathway|nuclear export	centrosome|nucleus	tubulin binding			large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	5						GCCGGGGCCAGCGGCAGACTC	0.647													A	113629341	G	A	113629341	3	1	364	1	0	0	0	0	1	0	0	0	1710	971	34	2	535	2	C12orf52	12	113629341	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10478	113629341	20222554	9968	33470											
IQCD	115811	broad.mit.edu	37	chr12	113633583	113633583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttggagttgatctcccGctcttcccggatctgcgcaa	5	14	9	13	3	4	1	0	1	4	0	6	3	5	3	2	2	1	3	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113633583G>A	ENST00000416617.2	-	5	1337	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W	IQCD_ENST00000299732.2_Missense_Mutation_p.R281W			Q96DY2	IQCD_HUMAN	IQ motif containing D	383										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						TTGATCTCCCGCTCTTCCCGG	0.597													A	113633583	G	A	113633583	3	1	364	1	0	0	0	0	1	0	0	0	7863	1086	38	1	206	1	IQCD	12	113633583	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4242	113633583	20218312	9969	33471											
IQCD	115811	broad.mit.edu	37	chr12	113645772	113645772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgccacatacgacagcaagGtcaccagctccaccttgtag	12	7	8	14	1	1	0	1	0	0	0	2	1	2	0	4	1	4	3	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113645772G>A	ENST00000546692.1	-	2	573	c.200C>T	c.(199-201)aCc>aTc	p.T67I	IQCD_ENST00000299732.2_Missense_Mutation_p.T67I|IQCD_ENST00000416617.2_Missense_Mutation_p.T67I			Q96DY2	IQCD_HUMAN	IQ motif containing D	67										endometrium(2)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						CGACAGCAAGGTCACCAGCTC	0.537													A	113645772	G	A	113645772	3	1	364	1	0	0	0	0	1	0	0	0	7863	1261	44	2	851	2	IQCD	12	113645772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12189	113645772	20206123	9970	33472											
TPCN1	53373	broad.mit.edu	37	chr12	113714766	113714766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaatgacattgagaaaCgcaagttcaagtctttgcta	13	12	7	9	1	3	2	2	2	1	1	3	3	3	2	1	0	2	3	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113714766C>T	ENST00000550785.1	+	12	1370	c.1201C>T	c.(1201-1203)Cgc>Tgc	p.R401C	TPCN1_ENST00000335509.6_Missense_Mutation_p.R329C|TPCN1_ENST00000541517.1_Missense_Mutation_p.R401C|TPCN1_ENST00000392569.4_Missense_Mutation_p.R261C	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	329						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CATTGAGAAACGCAAGTTCAA	0.557													T	113714766	C	T	113714766	3	4	364	1	0	0	0	0	1	0	0	0	16496	536	19	1	1243	1	TPCN1	12	113714766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68994	113714766	20137129	9971	33473											
TPCN1	53373	broad.mit.edu	37	chr12	113724881	113724881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttcatcgtggtcctgcGccccctccagctgctgaggt	4	12	10	15	2	1	1	1	1	0	0	4	1	3	1	4	2	3	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113724881G>A	ENST00000550785.1	+	20	2001	c.1832G>A	c.(1831-1833)cGc>cAc	p.R611H	TPCN1_ENST00000335509.6_Missense_Mutation_p.R539H|TPCN1_ENST00000541517.1_Missense_Mutation_p.R611H|TPCN1_ENST00000392569.4_Missense_Mutation_p.R471H	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	539						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						GTGGTCCTGCGCCCCCTCCAG	0.612													A	113724881	G	A	113724881	3	1	364	1	0	0	0	0	1	0	0	0	16496	1087	38	1	1906	1	TPCN1	12	113724881	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10115	113724881	20127014	9972	33474											
TPCN1	53373	broad.mit.edu	37	chr12	113726600	113726600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttttactactccttcGccatcgtgggcatggagttc	6	15	8	12	2	2	0	1	0	1	0	6	1	3	1	2	2	2	2	2	2	2	5	rs147435178		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113726600G>A	ENST00000550785.1	+	22	2129	c.1960G>A	c.(1960-1962)Gcc>Acc	p.A654T	TPCN1_ENST00000335509.6_Missense_Mutation_p.A582T|TPCN1_ENST00000541517.1_Missense_Mutation_p.A654T|TPCN1_ENST00000392569.4_Missense_Mutation_p.A514T	NM_001143819.1	NP_001137291.1	Q9ULQ1	TPC1_HUMAN	two pore segment channel 1	582						endosome membrane|integral to membrane|lysosomal membrane	NAADP-sensitive calcium-release channel activity|voltage-gated ion channel activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(2)|prostate(3)|skin(3)|urinary_tract(1)	40						CTACTCCTTCGCCATCGTGGG	0.657													A	113726600	G	A	113726600	3	1	364	1	0	0	0	0	1	0	0	0	16496	1087	38	1	2042	1	TPCN1	12	113726600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1719	113726600	20125295	9973	33475											
SDSL	113675	broad.mit.edu	37	chr12	113873266	113873266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctggaggtgggctggcaGcatgtacccatcattgccat	7	10	13	11	0	1	0	1	0	0	0	1	1	1	1	2	4	4	5	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:113873266G>T	ENST00000403593.4	+	6	838	c.576G>T	c.(574-576)caG>caT	p.Q192H	SDSL_ENST00000345635.4_Missense_Mutation_p.Q192H			Q96GA7	SDSL_HUMAN	serine dehydratase-like	192					cellular amino acid metabolic process		L-serine ammonia-lyase activity|L-threonine ammonia-lyase activity|pyridoxal phosphate binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	15					Pyridoxal Phosphate(DB00114)	TGGGCTGGCAGCATGTACCCA	0.647													T	113873266	G	T	113873266	3	4	364	1	0	0	0	0	1	0	0	0	14069	962	34	4	594	4	SDSL	12	113873266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146666	113873266	19978629	9974	33476											
RBM19	9904	broad.mit.edu	37	chr12	114352798	114352798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctctcggatctcccggCtgtgggcctggaaggggatg	6	8	17	10	2	2	1	0	0	2	1	4	4	2	4	2	6	1	2	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114352798C>T	ENST00000545145.2	-	21	2612	c.2534G>A	c.(2533-2535)aGc>aAc	p.S845N	RBM19_ENST00000392561.3_Missense_Mutation_p.S845N|RBM19_ENST00000261741.5_Missense_Mutation_p.S845N	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	845	RRM 6.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					GATCTCCCGGCTGTGGGCCTG	0.602													T	114352798	C	T	114352798	3	4	364	1	0	0	0	0	1	0	0	0	13209	797	28	2	364	2	RBM19	12	114352798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	479532	114352798	19499097	9975	33477											
RBM19	9904	broad.mit.edu	37	chr12	114383697	114383697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcatcggccacggcattcGgccccatgaatagtgtgttc	7	10	12	12	3	0	1	0	1	0	0	3	1	0	1	3	4	0	3	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:114383697G>A	ENST00000545145.2	-	13	1640	c.1562C>T	c.(1561-1563)cCg>cTg	p.P521L	RBM19_ENST00000392561.3_Missense_Mutation_p.P521L|RBM19_ENST00000261741.5_Missense_Mutation_p.P521L	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	521					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					CACGGCATTCGGCCCCATGAA	0.562													A	114383697	G	A	114383697	3	1	364	1	0	0	0	0	1	0	0	0	13209	1116	39	1	1368	1	RBM19	12	114383697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30899	114383697	19468198	9976	33478											
MED13L	23389	broad.mit.edu	37	chr12	116403926	116403926	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttttgagcctggggacaCgatgaccaaaaccactgggg	10	8	14	9	1	0	2	0	2	0	0	0	4	0	3	3	5	2	1	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116403926C>T	ENST00000281928.3	-	29	6554	c.6348G>A	c.(6346-6348)tcG>tcA	p.S2116S		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	2116					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCTGGGGACACGATGACCAAA	0.453													T	116403926	C	T	116403926	2	4	364	1	0	0	0	0	0	0	0	1	9506	523	19	1		1	MED13L	12	116403926	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2020229	116403926	17447969	9977	33479											
MED13L	23389	broad.mit.edu	37	chr12	116413074	116413074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatgcaccactcccataacTtctgtagtccaattttacgt	10	14	4	13	1	1	0	0	0	1	0	3	0	3	0	3	0	3	2	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413074T>C	ENST00000281928.3	-	25	5839	c.5633A>G	c.(5632-5634)aAg>aGg	p.K1878R		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1878					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CTCCCATAACTTCTGTAGTCC	0.463													C	116413074	T	C	116413074	3	2	364	1	0	0	0	0	1	0	0	0	9506	1609	56	3	1027	3	MED13L	12	116413074	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9148	116413074	17438821	9978	33480											
MED13L	23389	broad.mit.edu	37	chr12	116413113	116413113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatactttactcctcCgtgacctaacaaataaagaa	15	10	6	10	1	0	3	0	1	0	2	2	3	2	3	3	0	4	1	3	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116413113C>T	ENST00000281928.3	-	25	5800	c.5594G>A	c.(5593-5595)cGg>cAg	p.R1865Q		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1865					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTACTCCTCCGTGACCTAAC	0.403													T	116413113	C	T	116413113	3	4	364	1	0	0	0	0	1	0	0	0	9506	652	23	1	1066	1	MED13L	12	116413113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	116413113	17438782	9979	33481											
MED13L	23389	broad.mit.edu	37	chr12	116418589	116418589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcatctcaatgctggctGcaggcccaaatcccgtgagg	8	8	13	12	1	2	1	2	1	1	0	4	1	3	1	2	4	2	3	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116418589G>A	ENST00000281928.3	-	23	5536	c.5330C>T	c.(5329-5331)gCa>gTa	p.A1777V		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1777					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		AATGCTGGCTGCAGGCCCAAA	0.443													A	116418589	G	A	116418589	3	1	364	1	0	0	0	0	1	0	0	0	9506	1319	46	2	1338	2	MED13L	12	116418589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5476	116418589	17433306	9980	33482											
MED13L	23389	broad.mit.edu	37	chr12	116421083	116421083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagaggtagtgcttatCtggctaataccaggagcaga	14	8	13	6	0	1	3	0	0	1	3	1	5	1	4	1	3	3	4	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116421083C>A	ENST00000281928.3	-	21	5000	c.4794G>T	c.(4792-4794)caG>caT	p.Q1598H		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1598	Ser-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TAGTGCTTATCTGGCTAATAC	0.517													A	116421083	C	A	116421083	3	1	364	1	0	0	0	0	1	0	0	0	9506	912	32	4	1882	4	MED13L	12	116421083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2494	116421083	17430812	9981	33483											
MED13L	23389	broad.mit.edu	37	chr12	116422120	116422120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccacagtttttcccacgcGcatgatcccgtcacgtagca	8	10	8	15	4	1	1	1	1	0	0	3	1	3	1	3	0	2	4	3	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116422120G>A	ENST00000281928.3	-	20	4602	c.4396C>T	c.(4396-4398)Cgc>Tgc	p.R1466C		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1466					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTTCCCACGCGCATGATCCCG	0.488													A	116422120	G	A	116422120	3	1	364	1	0	0	0	0	1	0	0	0	9506	1087	38	1	2284	1	MED13L	12	116422120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1037	116422120	17429775	9982	33484											
MED13L	23389	broad.mit.edu	37	chr12	116425028	116425028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttttggatggcatcttggaGaaagggctgcagggacaaca	11	9	14	7	0	1	1	0	0	1	1	1	4	1	3	0	5	2	3	0	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116425028G>A	ENST00000281928.3	-	18	4206	c.4000C>T	c.(4000-4002)Ctc>Ttc	p.L1334F		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1334					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCATCTTGGAGAAAGGGCTGC	0.527													A	116425028	G	A	116425028	3	1	364	1	0	0	0	0	1	0	0	0	9506	942	33	2	2688	2	MED13L	12	116425028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2908	116425028	17426867	9983	33485											
MED13L	23389	broad.mit.edu	37	chr12	116444176	116444176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcaccggcgtggaatgaCctggtgtagtgacatccttg	8	9	14	10	2	0	2	0	2	0	0	1	3	1	3	3	4	0	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116444176C>T	ENST00000281928.3	-	12	2485	c.2279G>A	c.(2278-2280)gGt>gAt	p.G760D		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	760					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CGTGGAATGACCTGGTGTAGT	0.408													T	116444176	C	T	116444176	3	4	364	1	0	0	0	0	1	0	0	0	9506	507	18	2	4433	2	MED13L	12	116444176	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19148	116444176	17407719	9984	33486											
MED13L	23389	broad.mit.edu	37	chr12	116457747	116457747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcttggcctgttagcGtcccatttaagccataagga	9	13	10	9	1	0	0	0	0	0	0	1	1	1	1	3	2	3	3	3	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116457747G>A	ENST00000281928.3	-	6	862	c.656C>T	c.(655-657)aCg>aTg	p.T219M		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	219					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		GCCTGTTAGCGTCCCATTTAA	0.408													A	116457747	G	A	116457747	3	1	364	1	0	0	0	0	1	0	0	0	9506	1145	40	1	6080	1	MED13L	12	116457747	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13571	116457747	17394148	9985	33487											
MED13L	23389	broad.mit.edu	37	chr12	116675279	116675279	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagaaaccttaccctgcaGttcatgatgtattacaccca	14	10	5	12	0	1	2	1	1	0	1	1	2	1	2	3	0	5	3	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:116675279G>A	ENST00000281928.3	-	2	510	c.304C>T	c.(304-306)Ctg>Ttg	p.L102L	MED13L_ENST00000551197.1_5'UTR	NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	102					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TTACCCTGCAGTTCATGATGT	0.343													A	116675279	G	A	116675279	2	1	364	1	0	0	0	0	0	0	0	1	9506	1020	36	2		2	MED13L	12	116675279	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217532	116675279	17176616	9986	33488											
FBXW8	26259	broad.mit.edu	37	chr12	117461972	117461972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgaggatccacgacctccGcagtggtaacatcgccctgt	8	8	12	13	3	0	1	0	1	0	0	3	3	2	2	4	3	1	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117461972G>A	ENST00000455858.2	+	9	1263	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	FBXW8_ENST00000309909.5_Missense_Mutation_p.R463H	NM_012174.1|NM_153348.2	NP_036306.1|NP_699179.2	Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	463							protein binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CACGACCTCCGCAGTGGTAAC	0.582													A	117461972	G	A	117461972	3	1	364	1	0	0	0	0	1	0	0	0	5819	1087	38	1	1422	1	FBXW8	12	117461972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	786693	117461972	16389923	9987	33489											
NOS1	4842	broad.mit.edu	37	chr12	117655919	117655919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaggcggttggtcacttcGtacgttcgcagggtgactcc	6	11	13	11	4	1	1	1	1	0	0	4	1	2	1	1	4	1	4	1	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117655919G>A	ENST00000317775.6	-	28	4906	c.4221C>T	c.(4219-4221)taC>taT	p.Y1407Y	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.Y1441Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1407				Y -> I (in Ref. 3; AAA36376).	multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TGGTCACTTCGTACGTTCGCA	0.488													A	117655919	G	A	117655919	2	1	364	1	0	0	0	0	0	0	0	1	10617	1140	40	1		1	NOS1	12	117655919	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193947	117655919	16195976	9988	33490											
NOS1	4842	broad.mit.edu	37	chr12	117669819	117669819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcgctggtagctagggagGcaaactgctgcagctgcaga	9	8	14	10	1	1	1	0	0	1	1	2	2	1	2	0	3	6	8	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117669819G>A	ENST00000317775.6	-	22	4038	c.3353C>T	c.(3352-3354)gCc>gTc	p.A1118V	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Missense_Mutation_p.A1152V	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1118	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	AGCTAGGGAGGCAAACTGCTG	0.617													A	117669819	G	A	117669819	3	1	364	1	0	0	0	0	1	0	0	0	10617	1203	42	2	983	2	NOS1	12	117669819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13900	117669819	16182076	9989	33491											
NOS1	4842	broad.mit.edu	37	chr12	117768386	117768386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcctcctgcccatcatcGtaggcatgctgaggcccatt	7	9	9	16	1	1	1	1	1	0	0	3	1	2	1	5	2	3	3	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117768386G>A	ENST00000317775.6	-	2	1174	c.489C>T	c.(487-489)taC>taT	p.Y163Y	NOS1_ENST00000344089.3_Silent_p.Y163Y|NOS1_ENST00000338101.4_Silent_p.Y163Y	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	163	Interaction with NOSIP (By similarity).|PIN (nNOS-inhibiting protein) binding.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCCCATCATCGTAGGCATGCT	0.682													A	117768386	G	A	117768386	2	1	364	1	0	0	0	0	0	0	0	1	10617	1140	40	1		1	NOS1	12	117768386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98567	117768386	16083509	9990	33492											
KSR2	283455	broad.mit.edu	37	chr12	117962776	117962776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccttgagctggtcctcGttgtccctctcaatgtcaat	7	13	9	12	1	2	1	2	1	1	0	6	1	4	1	3	2	1	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:117962776G>A	ENST00000425217.1	-	14	2067	c.2013C>T	c.(2011-2013)aaC>aaT	p.N671N	KSR2_ENST00000545002.1_5'UTR|KSR2_ENST00000339824.5_Silent_p.N700N|KSR2_ENST00000302438.5_Silent_p.N397N	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	700	Protein kinase.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCTGGTCCTCGTTGTCCCTCT	0.607													A	117962776	G	A	117962776	2	1	364	1	0	0	0	0	0	0	0	1	8641	1136	40	1		1	KSR2	12	117962776	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194390	117962776	15889119	9991	33493											
KSR2	283455	broad.mit.edu	37	chr12	118199236	118199236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagatgggtgcggatccacGgggtgggctccggggggcac	6	5	21	9	3	0	1	0	0	0	1	2	3	2	2	2	8	1	2	2	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118199236G>A	ENST00000425217.1	-	4	533	c.479C>T	c.(478-480)cCg>cTg	p.P160L	KSR2_ENST00000339824.5_Missense_Mutation_p.P189L	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	189					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity	p.P221L(2)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGGATCCACGGGGTGGGCTC	0.637													A	118199236	G	A	118199236	3	1	364	1	0	0	0	0	1	0	0	0	8641	1116	39	1	2354	1	KSR2	12	118199236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236460	118199236	15652659	9992	33494											
WSB2	55884	broad.mit.edu	37	chr12	118481168	118481168	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacttcggcttttggcttcaAaccctttagggatgctggga	7	14	11	9	1	1	0	1	0	0	0	2	2	1	2	1	4	3	3	1	4	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118481168A>G	ENST00000315436.3	-	3	338	c.197T>C	c.(196-198)tTt>tCt	p.F66S	WSB2_ENST00000536738.1_5'UTR|WSB2_ENST00000542304.1_5'UTR|WSB2_ENST00000441406.2_Missense_Mutation_p.F83S|WSB2_ENST00000544233.1_Intron|WSB2_ENST00000535496.1_Missense_Mutation_p.F68S	NM_001278557.1|NM_018639.3	NP_001265486.1|NP_061109.1	Q9NYS7	WSB2_HUMAN	WD repeat and SOCS box containing 2	66					intracellular signal transduction					breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TTTGGCTTCAAACCCTTTAGG	0.488													G	118481168	A	G	118481168	3	3	364	1	0	0	0	0	1	0	0	0	17507	14	1	3	1045	3	WSB2	12	118481168	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	281932	118481168	15370727	9993	33495											
TAOK3	51347	broad.mit.edu	37	chr12	118636871	118636871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctactttcttatgcacgacGgaggagctggaattgattgt	9	13	11	8	2	1	1	0	1	1	0	1	5	1	4	1	3	3	2	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:118636871G>A	ENST00000392533.3	-	13	1669	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	TAOK3_ENST00000419821.2_Silent_p.S393S	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	393	Ser-rich.				MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TATGCACGACGGAGGAGCTGG	0.473													A	118636871	G	A	118636871	2	1	364	1	0	0	0	0	0	0	0	1	15646	1103	39	1		1	TAOK3	12	118636871	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155703	118636871	15215024	9994	33496											
PRKAB1	5564	broad.mit.edu	37	chr12	120106187	120106187	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgaagacgccgacctCttccactccgaggaaatcaa	12	5	8	16	4	2	1	1	0	1	1	4	5	4	2	6	1	1	0	6	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120106187C>A	ENST00000229328.5	+	1	630	c.138C>A	c.(136-138)ctC>ctA	p.L46L	PRKAB1_ENST00000541640.1_Silent_p.L46L	NM_006253.4	NP_006244.2	Q9Y478	AAKB1_HUMAN	protein kinase, AMP-activated, beta 1 non-catalytic subunit	46					cell cycle arrest|fatty acid biosynthetic process|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol				endometrium(2)|large_intestine(3)|lung(5)	10	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.166)	Adenosine monophosphate(DB00131)|Metformin(DB00331)	ACGCCGACCTCTTCCACTCCG	0.612													A	120106187	C	A	120106187	2	1	364	1	0	0	0	0	0	0	0	1	12581	900	32	4		4	PRKAB1	12	120106187	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1469316	120106187	13745708	9995	33497											
CIT	11113	broad.mit.edu	37	chr12	120173114	120173114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttggttgttgagttcagCgttgtcctcggtcagctggt	3	17	14	7	2	2	1	2	1	0	0	4	1	3	1	1	3	2	6	1	3	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120173114C>T	ENST00000392521.2	-	25	3062	c.3007G>A	c.(3007-3009)Gct>Act	p.A1003T	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A961T	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	961					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		TTGAGTTCAGCGTTGTCCTCG	0.463													T	120173114	C	T	120173114	3	4	364	1	0	0	0	0	1	0	0	0	3469	768	27	1	3298	1	CIT	12	120173114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66927	120173114	13678781	9996	33498											
CCDC64	92558	broad.mit.edu	37	chr12	120436392	120436392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggggagtgggaaggccGagtgtcagagctggagagtg	11	5	21	4	1	1	3	1	0	0	3	1	7	1	5	1	5	1	1	1	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120436392G>A	ENST00000397558.2	+	2	497	c.497G>A	c.(496-498)cGa>cAa	p.R166Q		NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	166					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGAAGGCCGAGTGTCAGAG	0.488													A	120436392	G	A	120436392	3	1	364	1	0	0	0	0	1	0	0	0	2863	1058	37	1	503	1	CCDC64	12	120436392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	263278	120436392	13415503	9997	33499											
GCN1L1	10985	broad.mit.edu	37	chr12	120567270	120567270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcttctcagccaccagcCtgatgtcgctggatgggttc	6	12	10	13	1	3	1	2	1	2	0	6	2	3	2	3	2	2	2	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120567270C>A	ENST00000300648.6	-	57	7712	c.7700G>T	c.(7699-7701)aGg>aTg	p.R2567M		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2567					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGCCACCAGCCTGATGTCGCT	0.527													A	120567270	C	A	120567270	3	1	364	1	0	0	0	0	1	0	0	0	6353	681	24	4	323	4	GCN1L1	12	120567270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130878	120567270	13284625	9998	33500											
GCN1L1	10985	broad.mit.edu	37	chr12	120613992	120613992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatactggctgaggtcaagCgtcactgatgccagcagact	10	8	12	11	1	2	3	2	2	0	1	2	3	2	3	1	2	4	3	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120613992C>T	ENST00000300648.6	-	10	879	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	289					regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGAGGTCAAGCGTCACTGATG	0.483													T	120613992	C	T	120613992	2	4	364	1	0	0	0	0	0	0	0	1	6353	755	27	1		1	GCN1L1	12	120613992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46722	120613992	13237903	9999	33501											
SIRT4	23409	broad.mit.edu	37	chr12	120741693	120741693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtactgggcgagaaactTcgtaggctggcctcaattct	8	10	13	10	3	2	1	1	0	1	1	3	2	2	1	1	4	2	3	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120741693T>C	ENST00000202967.4	+	2	388	c.329T>C	c.(328-330)tTc>tCc	p.F110S	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	110	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCGAGAAACTTCGTAGGCTGG	0.577													C	120741693	T	C	120741693	3	2	364	1	0	0	0	0	1	0	0	0	14434	1783	62	3	331	3	SIRT4	12	120741693	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	127701	120741693	13110202	10000	33502											
SIRT4	23409	broad.mit.edu	37	chr12	120750805	120750805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaaactgaattctcgttGtggagagttgctgcctttga	8	15	11	7	1	2	4	0	3	2	1	3	5	2	4	1	1	3	3	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120750805G>A	ENST00000202967.4	+	4	970	c.911G>A	c.(910-912)tGt>tAt	p.C304Y	SIRT4_ENST00000537892.1_3'UTR	NM_012240.2	NP_036372.1	Q9Y6E7	SIRT4_HUMAN	sirtuin 4	304	Deacetylase sirtuin-type.				chromatin silencing|negative regulation of insulin secretion|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)	9	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AATTCTCGTTGTGGAGAGTTG	0.478													A	120750805	G	A	120750805	3	1	364	1	0	0	0	0	1	0	0	0	14434	1377	48	2	921	2	SIRT4	12	120750805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9112	120750805	13101090	10001	33503											
PLA2G1B	5319	broad.mit.edu	37	chr12	120762744	120762744	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggataaacctactgctacaGgtgattgccgagccagagca	12	7	12	10	1	0	2	0	1	0	1	0	4	0	3	3	2	7	2	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120762744G>T	ENST00000308366.4	-	3	350	c.315C>A	c.(313-315)acC>acA	p.T105T	PLA2G1B_ENST00000423423.3_Intron|PLA2G1B_ENST00000549767.1_Silent_p.T76T	NM_000928.2	NP_000919.1	P04054	PA21B_HUMAN	phospholipase A2, group IB (pancreas)	105					actin filament organization|activation of MAPK activity|activation of phospholipase A2 activity|arachidonic acid secretion|cellular response to insulin stimulus|glucose transport|interleukin-8 production|leukotriene biosynthetic process|multicellular organismal lipid catabolic process|neutrophil chemotaxis|neutrophil mediated immunity|phosphatidylcholine metabolic process|positive regulation of calcium ion transport into cytosol|positive regulation of DNA replication|positive regulation of immune response|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein secretion|positive regulation of transcription from RNA polymerase II promoter	extracellular space	bile acid binding|calcium ion binding|calcium-dependent phospholipase A2 activity|cell surface binding|receptor binding			endometrium(1)|large_intestine(1)|lung(3)|skin(2)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TACTGCTACAGGTGATTGCCG	0.468											OREG0022189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120762744	G	T	120762744	2	4	364	1	0	0	0	0	0	0	0	1	12071	987	35	4		4	PLA2G1B	12	120762744	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11939	120762744	13089151	10002	33504											
RNF10	9921	broad.mit.edu	37	chr12	120995185	120995185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttctgctgggcatgcaTcctgcactatctttcactga	7	14	7	13	0	4	1	1	1	3	0	5	1	5	1	1	1	3	4	1	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995185T>C	ENST00000325954.4	+	5	1207	c.746T>C	c.(745-747)aTc>aCc	p.I249T	RNF10_ENST00000413266.2_Missense_Mutation_p.I249T	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	249					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TGGGCATGCATCCTGCACTAT	0.468													C	120995185	T	C	120995185	3	2	364	1	0	0	0	0	1	0	0	0	13513	1435	50	3	764	3	RNF10	12	120995185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	232441	120995185	12856710	10003	33505											
RNF10	9921	broad.mit.edu	37	chr12	120995485	120995485	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcccattcatctaggaGgtgagttctttaaattttgg	10	15	8	8	0	3	1	1	1	2	0	4	2	4	2	2	3	0	1	2	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:120995485G>T	ENST00000325954.4	+	6	1428	c.967G>T	c.(967-969)Gat>Tat	p.D323Y	RNF10_ENST00000413266.2_Splice_Site_p.D323Y	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	323					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCATCTAGGAGGTGAGTTCTT	0.428													T	120995485	G	T	120995485	5	4	364	1	0	0	0	0	0	0	1	0	13513	1014	35	4	989	4	RNF10	12	120995485	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	120995485	12856410	10004	33506											
CABP1	9478	broad.mit.edu	37	chr12	121098961	121098961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcaggtgggacaccgaGacatagaggaaattatccga	14	7	12	8	2	2	2	2	0	0	2	3	6	3	4	2	3	0	0	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121098961G>T	ENST00000453000.1	+	5	1347	c.835G>T	c.(835-837)Gac>Tac	p.D279Y	CABP1_ENST00000351200.2_Missense_Mutation_p.D140Y|CABP1_ENST00000316803.3_Missense_Mutation_p.D343Y|CABP1_ENST00000288616.3_Missense_Mutation_p.D200Y			Q9NZU7	CABP1_HUMAN	calcium binding protein 1	343	EF-hand 2.					cell cortex|cell junction|Golgi apparatus|perinuclear region of cytoplasm|postsynaptic density|postsynaptic membrane	calcium ion binding|calcium-dependent protein binding|enzyme inhibitor activity|protein binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGACACCGAGACATAGAGGA	0.527													T	121098961	G	T	121098961	3	4	364	1	0	0	0	0	1	0	0	0	2557	942	33	4	1278	4	CABP1	12	121098961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103476	121098961	12752934	10005	33507											
UNC119B	84747	broad.mit.edu	37	chr12	121154477	121154477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggagacgtggacatcagCgcaggacgttttgtccgcta	8	9	15	9	4	1	1	1	0	0	1	2	4	2	3	1	4	1	3	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121154477C>T	ENST00000344651.4	+	3	445	c.405C>T	c.(403-405)agC>agT	p.S135S		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	135										breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGGACATCAGCGCAGGACGTT	0.537													T	121154477	C	T	121154477	2	4	364	1	0	0	0	0	0	0	0	1	17085	767	27	1		1	UNC119B	12	121154477	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55516	121154477	12697418	10006	33508											
C12orf43	64897	broad.mit.edu	37	chr12	121442055	121442055	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttggtcccaagcgacacCtggtccccgttgagctcacc	6	11	9	15	2	1	1	1	1	0	0	3	2	3	1	5	2	2	2	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121442055C>A	ENST00000445832.3	-	6	702	c.600G>T	c.(598-600)caG>caT	p.Q200H	C12orf43_ENST00000536407.2_3'UTR|C12orf43_ENST00000537817.1_Missense_Mutation_p.Q231H|C12orf43_ENST00000539736.1_Missense_Mutation_p.Q220H|C12orf43_ENST00000288757.3_Missense_Mutation_p.Q230H|C12orf43_ENST00000366211.2_Missense_Mutation_p.Q189H			Q96C57	CL043_HUMAN	chromosome 12 open reading frame 43	230	Lys-rich.									cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CAAGCGACACCTGGTCCCCGT	0.562													A	121442055	C	A	121442055	3	1	364	1	0	0	0	0	1	0	0	0	1702	680	24	4	102	4	C12orf43	12	121442055	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	287578	121442055	12409840	10007	33509											
OASL	8638	broad.mit.edu	37	chr12	121461853	121461853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagcaacagtcctgtttcagGcactgggaggccctctgagc	8	9	12	12	0	2	1	1	1	1	0	3	2	3	2	2	3	3	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461853G>A	ENST00000339275.5	-	4	929	c.745C>T	c.(745-747)Cct>Tct	p.P249S	OASL_ENST00000257570.5_Silent_p.C329C	NM_198213.2	NP_937856.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	0					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTGTTTCAGGCACTGGGAGG	0.572													A	121461853	G	A	121461853	3	1	364	1	0	0	0	0	1	0	0	0	10878	1204	42	2	565	2	OASL	12	121461853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19798	121461853	12390042	10008	33510											
OASL	8638	broad.mit.edu	37	chr12	121461900	121461900	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcccatctgtacccttctgCcacgttgagggtggggtcgg	4	11	14	12	2	2	1	0	1	2	0	4	1	3	1	3	4	2	2	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121461900C>A	ENST00000257570.5	-	5	1210	c.940G>T	c.(940-942)Gca>Tca	p.A314S	OASL_ENST00000339275.5_Missense_Mutation_p.G233V	NM_003733.3	NP_003724.1	Q15646	OASL_HUMAN	2'-5'-oligoadenylate synthetase-like	314					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoplasm|nucleolus	ATP binding|DNA binding|double-stranded RNA binding|thyroid hormone receptor binding|transferase activity			NS(1)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TACCCTTCTGCCACGTTGAGG	0.557													A	121461900	C	A	121461900	3	1	364	1	0	0	0	0	1	0	0	0	10878	739	26	4	612	4	OASL	12	121461900	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	121461900	12389995	10009	33511											
P2RX7	5027	broad.mit.edu	37	chr12	121605290	121605290	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttgttgatccttcaGggcggaataatgggcattga	8	13	12	8	1	1	2	1	2	0	0	3	3	3	3	2	3	0	2	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121605290G>T	ENST00000328963.5	+	7	688		c.e7-1		P2RX7_ENST00000535250.1_Splice_Site|P2RX7_ENST00000546057.1_Splice_Site|P2RX7_ENST00000541446.1_Intron|P2RX7_ENST00000377162.2_Intron|P2RX7_ENST00000443520.3_Splice_Site			A8K2Z0	A8K2Z0_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 7							integral to membrane	ATP binding|ion channel activity|receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|stomach(1)	19	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATCCTTCAGGGCGGAATAA	0.512													T	121605290	G	T	121605290	5	4	364	1	0	0	0	0	0	0	1	0	11421	1014	35	4	774	4	P2RX7	12	121605290	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143390	121605290	12246605	10010	33512											
CAMKK2	10645	broad.mit.edu	37	chr12	121706459	121706459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtggaaagccggcctgccGgatcagcttctttttggaca	8	10	12	11	3	2	0	1	0	1	0	2	3	2	3	3	4	3	1	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121706459G>A	ENST00000324774.5	-	5	1435	c.607C>T	c.(607-609)Cgg>Tgg	p.R203W	CAMKK2_ENST00000392474.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000347034.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000538733.1_Missense_Mutation_p.R203W|CAMKK2_ENST00000535524.1_Intron|CAMKK2_ENST00000404169.3_Missense_Mutation_p.R203W|CAMKK2_ENST00000402834.4_Missense_Mutation_p.R203W|CAMKK2_ENST00000446440.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000392473.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000412367.2_Missense_Mutation_p.R203W|CAMKK2_ENST00000337174.3_Missense_Mutation_p.R203W	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	203	Protein kinase.				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCGGCCTGCCGGATCAGCTTC	0.547													A	121706459	G	A	121706459	3	1	364	1	0	0	0	0	1	0	0	0	2633	1115	39	1	1221	1	CAMKK2	12	121706459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101169	121706459	12145436	10011	33513											
ANAPC5	51433	broad.mit.edu	37	chr12	121746350	121746350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagctgccggaagagcatcGcacaccggttcctctcctgg	7	7	12	15	3	1	1	0	0	1	1	4	2	2	2	4	3	3	5	4	3	1	1	rs115934510	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121746350G>A	ENST00000261819.3	-	17	2322	c.2201C>T	c.(2200-2202)gCg>gTg	p.A734V	ANAPC5_ENST00000441917.2_Missense_Mutation_p.A622V|ANAPC5_ENST00000535482.1_Missense_Mutation_p.A400V|ANAPC5_ENST00000344395.4_Missense_Mutation_p.A622V|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Missense_Mutation_p.A721V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	734					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity	p.A734V(2)		breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GAAGAGCATCGCACACCGGTT	0.562													A	121746350	G	A	121746350	3	1	364	1	0	0	0	0	1	0	0	0	605	1087	38	1	70	1	ANAPC5	12	121746350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39891	121746350	12105545	10012	33514											
ANAPC5	51433	broad.mit.edu	37	chr12	121756220	121756220	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacagctctgccacggacaGtaggacactgaccgtaaaga	13	6	11	11	2	1	2	0	1	1	1	1	4	1	4	2	2	3	4	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121756220G>A	ENST00000261819.3	-	15	1874	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	ANAPC5_ENST00000441917.2_Silent_p.L473L|ANAPC5_ENST00000535482.1_Silent_p.L251L|ANAPC5_ENST00000344395.4_Silent_p.L473L|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.L572L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	585					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCCACGGACAGTAGGACACTG	0.542													A	121756220	G	A	121756220	2	1	364	1	0	0	0	0	0	0	0	1	605	1020	36	2		2	ANAPC5	12	121756220	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9870	121756220	12095675	10013	33515											
ANAPC5	51433	broad.mit.edu	37	chr12	121773353	121773353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagtgaccgaagcggcaGtgcagggcggcaagattcag	11	6	15	9	3	1	2	1	1	0	1	1	3	1	2	1	3	3	3	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121773353G>A	ENST00000261819.3	-	7	1054	c.933C>T	c.(931-933)caC>caT	p.H311H	ANAPC5_ENST00000441917.2_Silent_p.H212H|ANAPC5_ENST00000536366.1_Silent_p.H190H|ANAPC5_ENST00000344395.4_Silent_p.H212H|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000541887.1_Silent_p.H311H	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	311					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CGAAGCGGCAGTGCAGGGCGG	0.512													A	121773353	G	A	121773353	2	1	364	1	0	0	0	0	0	0	0	1	605	1020	36	2		2	ANAPC5	12	121773353	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17133	121773353	12078542	10014	33516											
ANAPC5	51433	broad.mit.edu	37	chr12	121783770	121783770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactgctgaagggcagtgtaCagtttaaacacttggctgaa	12	11	11	7	0	0	2	0	2	0	0	0	2	0	2	0	2	4	5	0	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121783770C>T	ENST00000261819.3	-	4	583	c.462G>A	c.(460-462)ctG>ctA	p.L154L	ANAPC5_ENST00000441917.2_Silent_p.L55L|ANAPC5_ENST00000536366.1_Silent_p.L33L|ANAPC5_ENST00000344395.4_Silent_p.L55L|ANAPC5_ENST00000541887.1_Silent_p.L154L	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	154					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGGCAGTGTACAGTTTAAACA	0.428													T	121783770	C	T	121783770	2	4	364	1	0	0	0	0	0	0	0	1	605	465	17	2		2	ANAPC5	12	121783770	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10417	121783770	12068125	10015	33517											
ANAPC5	51433	broad.mit.edu	37	chr12	121784789	121784789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatccttcaactcgcCttcagccatcagtttgattc	8	15	4	14	1	3	1	3	1	0	0	7	1	5	1	4	0	2	1	4	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121784789C>A	ENST00000261819.3	-	3	428	c.307G>T	c.(307-309)Ggc>Tgc	p.G103C	ANAPC5_ENST00000441917.2_Missense_Mutation_p.G4C|ANAPC5_ENST00000344395.4_Missense_Mutation_p.G4C|ANAPC5_ENST00000541887.1_Missense_Mutation_p.G103C	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	103					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TTCAACTCGCCTTCAGCCATC	0.368													A	121784789	C	A	121784789	3	1	364	1	0	0	0	0	1	0	0	0	605	681	24	4	2020	4	ANAPC5	12	121784789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1019	121784789	12067106	10016	33518											
KDM2B	84678	broad.mit.edu	37	chr12	121877673	121877673	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccagacaggttgatCtcggttaaggagtctcgggt	9	10	13	9	2	3	2	1	1	2	1	5	4	3	3	1	4	0	2	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121877673C>A	ENST00000377069.4	-	21	4015	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	KDM2B_ENST00000377071.4_Missense_Mutation_p.E1272D|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.E640D	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	1272					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						ACAGGTTGATCTCGGTTAAGG	0.547													A	121877673	C	A	121877673	3	1	364	1	0	0	0	0	1	0	0	0	8183	912	32	4	254	4	KDM2B	12	121877673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92884	121877673	11974222	10017	33519											
KDM2B	84678	broad.mit.edu	37	chr12	121882002	121882002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccttccttgttgtccCggttcatcttctgctccttg	1	17	7	16	1	3	0	1	0	2	0	6	0	6	0	5	1	2	3	5	1	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:121882002C>T	ENST00000377069.4	-	16	2577	c.2171G>A	c.(2170-2172)cGg>cAg	p.R724Q	KDM2B_ENST00000377071.4_Missense_Mutation_p.R755Q|KDM2B_ENST00000536437.1_Intron|KDM2B_ENST00000542973.1_Missense_Mutation_p.R123Q	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	755					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						CTTGTTGTCCCGGTTCATCTT	0.602											OREG0022201	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	121882002	C	T	121882002	3	4	364	1	0	0	0	0	1	0	0	0	8183	652	23	1	1830	1	KDM2B	12	121882002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4329	121882002	11969893	10018	33520											
MORN3	283385	broad.mit.edu	37	chr12	122097205	122097205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcttcccaaacttccaGtccccctcatagatggctcc	7	11	5	18	1	2	1	1	0	1	1	7	1	6	1	5	1	1	2	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122097205G>A	ENST00000355329.3	-	2	365	c.195C>T	c.(193-195)gaC>gaT	p.D65D		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	65										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		CAAACTTCCAGTCCCCCTCAT	0.572													A	122097205	G	A	122097205	2	1	364	1	0	0	0	0	0	0	0	1	9785	1020	36	2		2	MORN3	12	122097205	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215203	122097205	11754690	10019	33521											
RHOF	54509	broad.mit.edu	37	chr12	122217535	122217535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggaacattccaggtagaGagcagctcggatctgttcgc	9	8	14	10	3	1	1	0	0	1	1	4	4	2	3	1	4	3	4	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122217535G>A	ENST00000267205.2	-	5	1133	c.505C>T	c.(505-507)Ctc>Ttc	p.L169F	RHOF_ENST00000537265.1_Missense_Mutation_p.L69F|TMEM120B_ENST00000538055.1_Intron|TMEM120B_ENST00000449592.2_3'UTR	NM_019034.2	NP_061907.2	Q9HBH0	RHOF_HUMAN	ras homolog family member F (in filopodia)	169					actin filament organization|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|plasma membrane	GTP binding|GTPase activity			large_intestine(1)|lung(1)|ovary(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;4.38e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCCAGGTAGAGAGCAGCTCGG	0.642													A	122217535	G	A	122217535	3	1	364	1	0	0	0	0	1	0	0	0	13427	942	33	2	134	2	RHOF	12	122217535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120330	122217535	11634360	10020	33522											
HPD	3242	broad.mit.edu	37	chr12	122294280	122294280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgcaatgtccttcactcCgtcaccgtgtttcaccaggt	8	11	8	14	3	3	0	3	0	0	0	5	1	5	0	4	1	1	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122294280C>T	ENST00000543163.1	-	7	602	c.157G>A	c.(157-159)Gga>Aga	p.G53R	HPD_ENST00000289004.4_Missense_Mutation_p.G92R|RP11-7M8.2_ENST00000543848.1_RNA	NM_001171993.1	NP_001165464.1	P32754	HPPD_HUMAN	4-hydroxyphenylpyruvate dioxygenase	92					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	4-hydroxyphenylpyruvate dioxygenase activity|metal ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(8)|urinary_tract(1)	18	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000105)|Epithelial(86;0.000352)|BRCA - Breast invasive adenocarcinoma(302;0.225)	Nitisinone(DB00348)	TCCTTCACTCCGTCACCGTGT	0.567													T	122294280	C	T	122294280	3	4	364	1	0	0	0	0	1	0	0	0	7387	661	23	1	943	1	HPD	12	122294280	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76745	122294280	11557615	10021	33523											
PSMD9	5715	broad.mit.edu	37	chr12	122337707	122337707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccctccacgggccttcGccaaagtgaacagcatcagc	10	5	11	15	2	1	1	1	1	0	0	3	1	2	1	4	2	3	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122337707G>A	ENST00000541212.1	+	3	535	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	RP11-87C12.2_ENST00000546333.1_Intron|PSMD9_ENST00000261817.2_Missense_Mutation_p.A137T|PSMD9_ENST00000340175.5_Missense_Mutation_p.A137T|PSMD9_ENST00000542602.1_Intron			O00233	PSMD9_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 9	137	PDZ.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of insulin secretion|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of insulin secretion|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	nucleus|proteasome regulatory particle	bHLH transcription factor binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)	3	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000117)|Epithelial(86;0.000415)|BRCA - Breast invasive adenocarcinoma(302;0.231)		ACGGGCCTTCGCCAAAGTGAA	0.642													A	122337707	G	A	122337707	3	1	364	1	0	0	0	0	1	0	0	0	12790	1087	38	1	419	1	PSMD9	12	122337707	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43427	122337707	11514188	10022	33524											
IL31	386653	broad.mit.edu	37	chr12	122656969	122656969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagatggccttaagtggtgGcctgttgggctccagaggtc	7	10	16	8	0	0	2	0	0	0	2	2	3	1	2	3	5	0	2	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122656969G>A	ENST00000377035.1	-	3	511	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_001014336.1	NP_001014358.1	Q6EBC2	IL31_HUMAN	interleukin 31	162						extracellular space	cytokine activity			central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;6.93e-05)|Breast(359;0.0544)		OV - Ovarian serous cystadenocarcinoma(86;3.27e-29)|Epithelial(86;4.86e-27)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TTAAGTGGTGGCCTGTTGGGC	0.473													A	122656969	G	A	122656969	3	1	364	1	0	0	0	0	1	0	0	0	7748	1203	42	2	13	2	IL31	12	122656969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	319262	122656969	11194926	10023	33525											
B3GNT4	79369	broad.mit.edu	37	chr12	122691477	122691477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtctttgtccacgtccccAacgtgttagagttcctggat	7	14	9	11	2	1	1	0	0	1	1	4	2	4	2	4	1	1	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122691477A>G	ENST00000535274.1	+	1	2331	c.604A>G	c.(604-606)Aac>Gac	p.N202D	B3GNT4_ENST00000545141.1_Intron|B3GNT4_ENST00000324189.4_Missense_Mutation_p.N227D|B3GNT4_ENST00000546192.1_Missense_Mutation_p.N202D			Q9C0J1	B3GN4_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 4	227					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000297)|Epithelial(86;0.000497)|BRCA - Breast invasive adenocarcinoma(302;0.222)		CCACGTCCCCAACGTGTTAGA	0.592													G	122691477	A	G	122691477	3	3	364	1	0	0	0	0	1	0	0	0	1264	130	5	3	685	3	B3GNT4	12	122691477	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34508	122691477	11160418	10024	33526											
DIABLO	56616	broad.mit.edu	37	chr12	122693109	122693109	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgattcctggcggttataGaggcctgatctgcgcctgcc	5	12	13	11	2	1	3	0	2	1	1	2	3	2	3	4	3	2	1	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122693109G>T	ENST00000464942.2	-	5	1773	c.380C>A	c.(379-381)tCt>tAt	p.S127Y	DIABLO_ENST00000413918.1_Missense_Mutation_p.S136Y|RP11-512M8.5_ENST00000535844.1_3'UTR|DIABLO_ENST00000443649.3_Missense_Mutation_p.S180Y|B3GNT4_ENST00000545141.1_3'UTR|DIABLO_ENST00000353548.6_Missense_Mutation_p.S136Y|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000267169.6_Missense_Mutation_p.S127Y	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein	180					activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGCGGTTATAGAGGCCTGATC	0.582													T	122693109	G	T	122693109	3	4	364	1	0	0	0	0	1	0	0	0	4556	942	33	4	184	4	DIABLO	12	122693109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1632	122693109	11158786	10025	33527											
DIABLO	56616	broad.mit.edu	37	chr12	122709222	122709222	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtcagatttcataaggcaCgaccgccaatctgtaacagg	14	8	9	10	2	3	1	2	0	1	1	3	2	3	1	2	2	1	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122709222C>T	ENST00000464942.2	-	0	1387				DIABLO_ENST00000413918.1_Intron|RP11-512M8.5_ENST00000535844.1_Intron|DIABLO_ENST00000443649.3_Intron|DIABLO_ENST00000353548.6_Intron|DIABLO_ENST00000267169.6_De_novo_Start_OutOfFrame	NM_001278304.1	NP_001265233.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein						activation of caspase activity by cytochrome c|induction of apoptosis via death domain receptors	CD40 receptor complex|cytosol|internal side of plasma membrane|mitochondrial intermembrane space	protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		TCATAAGGCACGACCGCCAAT	0.458													T	122709222	C	T	122709222	1	4	364	1	0	0	0	0	0	0	0	0	4556	551	19	1		1	DIABLO	12	122709222	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16113	122709222	11142673	10026	33528											
VPS33A	65082	broad.mit.edu	37	chr12	122716793	122716793	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtctcctctgaacatcCtagaaaggtttttccatcag	11	14	6	10	0	3	2	1	1	2	1	6	2	5	2	3	1	1	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716793C>A	ENST00000267199.4	-	13	1903	c.1791G>T	c.(1789-1791)taG>taT	p.*597Y	RP11-512M8.5_ENST00000535844.1_Intron	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	0					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		TCTGAACATCCTAGAAAGGTT	0.398													A	122716793	C	A	122716793	4	1	364	1	0	0	0	0	0	0	0	0	17303	692	24	4	3	4	VPS33A	12	122716793	Nonstop_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7571	122716793	11135102	10027	33529											
VPS33A	65082	broad.mit.edu	37	chr12	122716899	122716899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccaactgggagagaaatCgcagggcagcaatttcagcg	12	7	12	10	2	1	1	1	0	0	1	3	3	2	2	1	2	3	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122716899C>T	ENST00000267199.4	-	13	1797	c.1685G>A	c.(1684-1686)cGa>cAa	p.R562Q	RP11-512M8.5_ENST00000535844.1_Missense_Mutation_p.R523Q	NM_022916.4	NP_075067.2	Q96AX1	VP33A_HUMAN	vacuolar protein sorting 33 homolog A (S. cerevisiae)	562					lysosome localization|melanosome localization|platelet formation|protein transport|regulation of developmental pigmentation|vesicle docking involved in exocytosis	early endosome|late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	28	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000336)|Epithelial(86;0.000606)|BRCA - Breast invasive adenocarcinoma(302;0.23)		GGAGAGAAATCGCAGGGCAGC	0.428													T	122716899	C	T	122716899	3	4	364	1	0	0	0	0	1	0	0	0	17303	884	31	1	109	1	VPS33A	12	122716899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	122716899	11134996	10028	33530											
CLIP1	6249	broad.mit.edu	37	chr12	122812815	122812815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtatctccttaccaggtccGacaatttcctctccaattct	9	14	4	14	1	3	0	0	0	3	0	7	1	5	0	5	1	1	1	5	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122812815G>A	ENST00000358808.2	-	15	3147	c.2993C>T	c.(2992-2994)tCg>tTg	p.S998L	CLIP1_ENST00000302528.7_Missense_Mutation_p.S998L|CLIP1_ENST00000537178.1_Missense_Mutation_p.S963L|CLIP1_ENST00000545889.1_Missense_Mutation_p.S584L|CLIP1_ENST00000361654.4_Missense_Mutation_p.S887L|CLIP1_ENST00000540338.1_Missense_Mutation_p.S1009L	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1009					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TACCAGGTCCGACAATTTCCT	0.478													A	122812815	G	A	122812815	3	1	364	1	0	0	0	0	1	0	0	0	3563	1059	37	1	1334	1	CLIP1	12	122812815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95916	122812815	11039080	10029	33531											
CLIP1	6249	broad.mit.edu	37	chr12	122862245	122862245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaaggtcgggtaaatatGccctttaaaggttcacactg	11	13	10	7	1	1	1	1	1	0	0	2	1	1	1	1	3	1	2	1	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862245G>A	ENST00000358808.2	-	3	502	c.348C>T	c.(346-348)ggC>ggT	p.G116G	CLIP1_ENST00000302528.7_Silent_p.G116G|CLIP1_ENST00000537178.1_Silent_p.G116G|CLIP1_ENST00000361654.4_Silent_p.G116G|CLIP1_ENST00000540338.1_Silent_p.G116G	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	116	CAP-Gly 1.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GGGTAAATATGCCCTTTAAAG	0.507													A	122862245	G	A	122862245	2	1	364	1	0	0	0	0	0	0	0	1	3563	1306	46	2		2	CLIP1	12	122862245	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49430	122862245	10989650	10030	33532											
CLIP1	6249	broad.mit.edu	37	chr12	122862486	122862487	+	Frame_Shift_Ins	INS	-	-	T																															tgctttttcactggatatggINSttttttctactggagctaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122862486_122862487insT	ENST00000358808.2	-	3	260_261	c.106_107insA	c.(106-108)accfs	p.T36fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.T36fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.T36fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	36					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		ACTGGATATGGTTTTTTCTACT	0.386													T	122862487	-	T	122862486	7	5	364	1	0	1	1	0	0	0	0	0	3563	1261	44	0	4268	0	CLIP1	12	122862486	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	241	122862486	10989409	10031	33533											
ZCCHC8	55596	broad.mit.edu	37	chr12	122958464	122958464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagatgtttttccctcCgggacagggaggtctagctc	6	14	11	10	1	2	1	1	0	1	1	5	3	4	3	2	3	1	2	2	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122958464C>T	ENST00000543897.1	-	12	3345	c.990G>A	c.(988-990)ccG>ccA	p.P330P	ZCCHC8_ENST00000336229.4_Silent_p.P568P|ZCCHC8_ENST00000536306.1_Silent_p.P330P|ZCCHC8_ENST00000538116.1_Silent_p.P179P			Q6NZY4	ZCHC8_HUMAN	zinc finger, CCHC domain containing 8	568						catalytic step 2 spliceosome	nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.25e-05)|Epithelial(86;0.000113)|BRCA - Breast invasive adenocarcinoma(302;0.202)		TTTTTCCCTCCGGGACAGGGA	0.502													T	122958464	C	T	122958464	2	4	364	1	0	0	0	0	0	0	0	1	17695	639	23	1		1	ZCCHC8	12	122958464	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95978	122958464	10893431	10032	33534											
RSRC2	65117	broad.mit.edu	37	chr12	122990173	122990173	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcatactgagcatctaaAtttcgaaatacttcttcctg	12	16	4	9	1	3	1	1	1	2	0	5	2	4	1	1	0	3	1	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:122990173A>C	ENST00000331738.7	-	10	1351	c.1206T>G	c.(1204-1206)aaT>aaG	p.N402K	RSRC2_ENST00000354654.2_Missense_Mutation_p.N354K|RSRC2_ENST00000392442.2_5'UTR	NM_023012.5	NP_075388.2	Q7L4I2	RSRC2_HUMAN	arginine/serine-rich coiled-coil 2	402										breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|urinary_tract(2)	24	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;5.14e-05)|Epithelial(86;0.000183)|BRCA - Breast invasive adenocarcinoma(302;0.201)		GAGCATCTAAATTTCGAAATA	0.393													C	122990173	A	C	122990173	3	2	364	1	0	0	0	0	1	0	0	0	13806	98	4	5	102	5	RSRC2	12	122990173	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31709	122990173	10861722	10033	33535											
KNTC1	9735	broad.mit.edu	37	chr12	123024244	123024244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catttgttcagaaagctaacGatgaaaatcggcggacttac	14	10	9	8	3	1	2	1	1	0	1	2	4	1	3	0	2	3	2	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123024244G>A	ENST00000333479.7	+	5	565	c.388G>A	c.(388-390)Gat>Aat	p.D130N	KNTC1_ENST00000450485.2_Missense_Mutation_p.D130N	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	130					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		GAAAGCTAACGATGAAAATCG	0.274													A	123024244	G	A	123024244	3	1	364	1	0	0	0	0	1	0	0	0	8486	1058	37	1	402	1	KNTC1	12	123024244	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34071	123024244	10827651	10034	33536											
KNTC1	9735	broad.mit.edu	37	chr12	123047224	123047224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattgactactttttatggaGcatttggaccagaaaaattc	14	14	7	6	0	0	2	0	1	0	1	1	4	0	4	1	2	2	1	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123047224G>A	ENST00000333479.7	+	20	1759	c.1582G>A	c.(1582-1584)Gca>Aca	p.A528T	KNTC1_ENST00000450485.2_Missense_Mutation_p.A491T	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	528					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TTTTTATGGAGCATTTGGACC	0.343													A	123047224	G	A	123047224	3	1	364	1	0	0	0	0	1	0	0	0	8486	971	34	2	1656	2	KNTC1	12	123047224	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22980	123047224	10804671	10035	33537											
KNTC1	9735	broad.mit.edu	37	chr12	123067323	123067323	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagatctccgtgagcaGcacattaaagctcacgaagt	13	8	10	10	2	2	2	1	1	1	1	3	3	2	2	1	0	4	5	1	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123067323G>A	ENST00000333479.7	+	34	3231	c.3054G>A	c.(3052-3054)caG>caA	p.Q1018Q	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1018					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TCCGTGAGCAGCACATTAAAG	0.483													A	123067323	G	A	123067323	2	1	364	1	0	0	0	0	0	0	0	1	8486	962	34	2		2	KNTC1	12	123067323	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20099	123067323	10784572	10036	33538											
CCDC62	84660	broad.mit.edu	37	chr12	123286229	123286229	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaaagtggcatgtgtgaCtccaagtgctgccacccgag	9	7	14	11	2	0	1	0	1	0	0	1	3	1	1	3	2	2	2	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123286229C>A	ENST00000253079.6	+	9	1880	c.1536C>A	c.(1534-1536)gaC>gaA	p.D512E	CCDC62_ENST00000392440.2_Missense_Mutation_p.D273E|CCDC62_ENST00000392441.4_Missense_Mutation_p.D512E|CCDC62_ENST00000537566.1_Missense_Mutation_p.D273E	NM_201435.4	NP_958843.2	Q6P9F0	CCD62_HUMAN	coiled-coil domain containing 62	512						cytoplasm|nucleus				breast(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.51e-06)|Epithelial(86;2.65e-05)|BRCA - Breast invasive adenocarcinoma(302;0.206)		GCATGTGTGACTCCAAGTGCT	0.473													A	123286229	C	A	123286229	3	1	364	1	0	0	0	0	1	0	0	0	2861	564	20	4	1570	4	CCDC62	12	123286229	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218906	123286229	10565666	10037	33539											
HIP1R	9026	broad.mit.edu	37	chr12	123335813	123335813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtggagatgtttgattaCatggattgtgagctgaagct	10	14	13	4	0	0	4	0	3	0	1	0	6	0	5	0	2	3	3	0	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123335813C>T	ENST00000253083.4	+	7	671	c.546C>T	c.(544-546)taC>taT	p.Y182Y		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	182					receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		TGTTTGATTACATGGATTGTG	0.527													T	123335813	C	T	123335813	2	4	364	1	0	0	0	0	0	0	0	1	7170	489	17	2		2	HIP1R	12	123335813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49584	123335813	10516082	10038	33540											
HIP1R	9026	broad.mit.edu	37	chr12	123345497	123345497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcccccacctgagccGcctgcaggaatgttctcgca	8	6	10	17	2	1	1	0	1	1	0	2	2	1	2	5	1	3	4	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123345497G>A	ENST00000253083.4	+	29	2926	c.2801G>A	c.(2800-2802)cGc>cAc	p.R934H		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	934	I/LWEQ.				receptor-mediated endocytosis	clathrin coated vesicle membrane|coated pit|perinuclear region of cytoplasm	actin binding|phosphatidylinositol binding			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CACCTGAGCCGCCTGCAGGAA	0.637											OREG0022225	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	123345497	G	A	123345497	3	1	364	1	0	0	0	0	1	0	0	0	7170	1087	38	1	2915	1	HIP1R	12	123345497	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9684	123345497	10506398	10039	33541											
ABCB9	23457	broad.mit.edu	37	chr12	123428988	123428988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgaaggcgatgaggtTgccgctggtcatctggcctg	7	10	16	8	2	2	3	1	3	1	0	2	5	2	3	2	4	1	2	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123428988T>C	ENST00000542678.1	-	7	4168	c.1330A>G	c.(1330-1332)Aac>Gac	p.N444D	ABCB9_ENST00000442833.2_Missense_Mutation_p.N444D|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000280560.8_Missense_Mutation_p.N444D|ABCB9_ENST00000540285.1_Missense_Mutation_p.N444D|ABCB9_ENST00000344275.7_Missense_Mutation_p.N444D|ABCB9_ENST00000346530.5_Intron|ABCB9_ENST00000442028.2_Missense_Mutation_p.N444D|ABCB9_ENST00000392439.3_Missense_Mutation_p.N444D			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	444	ABC transmembrane type-1.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GCGATGAGGTTGCCGCTGGTC	0.587													C	123428988	T	C	123428988	3	2	364	1	0	0	0	0	1	0	0	0	48	1812	63	3	994	3	ABCB9	12	123428988	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	83491	123428988	10422907	10040	33542											
PITPNM2	57605	broad.mit.edu	37	chr12	123477114	123477114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacgctgaaaggcggcaggGcgtgaaagcgccgttccagc	9	4	17	11	5	0	2	0	2	0	0	1	3	1	3	2	4	2	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123477114G>T	ENST00000280562.5	-	15	2541	c.2336C>A	c.(2335-2337)gCc>gAc	p.A779D	PITPNM2_ENST00000320201.4_Missense_Mutation_p.A779D|PITPNM2_ENST00000392428.1_Missense_Mutation_p.A500D|PITPNM2_ENST00000542749.1_Missense_Mutation_p.A779D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	779	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		AGGCGGCAGGGCGTGAAAGCG	0.682													T	123477114	G	T	123477114	3	4	364	1	0	0	0	0	1	0	0	0	12028	1203	42	4	1757	4	PITPNM2	12	123477114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48126	123477114	10374781	10041	33543											
SBNO1	55206	broad.mit.edu	37	chr12	123789129	123789129	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacaaatgaaaaaatacCttcttatatttcttttttag	15	18	3	5	0	2	1	0	1	2	0	2	1	2	1	1	0	2	1	1	0	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123789129C>A	ENST00000420886.2	-	28	3767	c.3768G>T	c.(3766-3768)aaG>aaT	p.K1256N	SBNO1_ENST00000267176.4_Splice_Site_p.K1255N|SBNO1_ENST00000602398.1_Splice_Site_p.K1256N|SBNO1_ENST00000602750.1_Splice_Site_p.K1255N	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1256							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		GAAAAAATACCTTCTTATATT	0.348													A	123789129	C	A	123789129	5	1	364	1	0	0	0	0	0	0	1	0	13954	695	24	4	429	4	SBNO1	12	123789129	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	312015	123789129	10062766	10042	33544											
SBNO1	55206	broad.mit.edu	37	chr12	123804521	123804521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcaagttcagatcttgActcataagatatgcttccat	13	13	5	10	0	4	3	3	1	1	2	5	3	5	3	1	0	1	2	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123804521A>G	ENST00000420886.2	-	19	2724	c.2725T>C	c.(2725-2727)Tca>Cca	p.S909P	SBNO1_ENST00000267176.4_Missense_Mutation_p.S908P|SBNO1_ENST00000602398.1_Missense_Mutation_p.S909P|SBNO1_ENST00000602750.1_Missense_Mutation_p.S908P	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	909							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TCAGATCTTGACTCATAAGAT	0.408													G	123804521	A	G	123804521	3	3	364	1	0	0	0	0	1	0	0	0	13954	275	10	3	1508	3	SBNO1	12	123804521	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15392	123804521	10047374	10043	33545											
SBNO1	55206	broad.mit.edu	37	chr12	123812039	123812039	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacttcctcaattttgaaGgtcactccagtaaagctcag	13	11	7	10	0	3	2	3	1	0	1	5	2	5	2	2	1	2	2	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123812039G>T	ENST00000420886.2	-	12	1625	c.1626C>A	c.(1624-1626)acC>acA	p.T542T	SBNO1_ENST00000267176.4_Silent_p.T541T|SBNO1_ENST00000602398.1_Silent_p.T542T|SBNO1_ENST00000602750.1_Silent_p.T541T	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	542							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CAATTTTGAAGGTCACTCCAG	0.363													T	123812039	G	T	123812039	2	4	364	1	0	0	0	0	0	0	0	1	13954	987	35	4		4	SBNO1	12	123812039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7518	123812039	10039856	10044	33546											
RILPL2	196383	broad.mit.edu	37	chr12	123900468	123900468	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttccccgatcgaaaaaagaaCctggtgtggagagagagagg	14	6	14	7	2	0	3	0	0	0	3	2	8	1	4	3	3	1	0	3	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123900468C>A	ENST00000280571.8	-	4	902	c.606G>T	c.(604-606)ctG>ctT	p.L202L		NM_145058.1	NP_659495.1	Q969X0	RIPL2_HUMAN	Rab interacting lysosomal protein-like 2	202						cytosol|plasma membrane	identical protein binding			endometrium(1)|large_intestine(2)|lung(2)|skin(1)	6	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000546)|Epithelial(86;0.00179)|all cancers(50;0.0168)		GAAAAAAGAACCTGGTGTGGA	0.488													A	123900468	C	A	123900468	5	1	364	1	0	0	0	0	0	0	1	0	13451	521	18	4	33	4	RILPL2	12	123900468	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88429	123900468	9951427	10045	33547											
SNRNP35	11066	broad.mit.edu	37	chr12	123950644	123950644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaacgggaaaggcgggagcGatctcgatcccgagaaagac	15	3	14	9	5	1	2	0	0	1	2	3	7	2	4	1	3	2	0	1	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:123950644G>A	ENST00000526639.2	+	2	1136	c.557G>A	c.(556-558)cGa>cAa	p.R186Q	SNRNP35_ENST00000527158.2_Intron|SNRNP35_ENST00000350887.5_Missense_Mutation_p.R186Q|SNRNP35_ENST00000412157.2_Missense_Mutation_p.R191Q	NM_022717.3	NP_073208.1	Q16560	U1SBP_HUMAN	small nuclear ribonucleoprotein 35kDa (U11/U12)	186	Arg-rich.				mRNA processing	U12-type spliceosomal complex	nucleotide binding|RNA binding			NS(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						AGGCGGGAGCGATCTCGATCC	0.542													A	123950644	G	A	123950644	3	1	364	1	0	0	0	0	1	0	0	0	14949	1058	37	1	578	1	SNRNP35	12	123950644	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50176	123950644	9901251	10046	33548											
DDX55	57696	broad.mit.edu	37	chr12	124094552	124094552	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttttctctgccactcagacGcaggaagtggagaacctggt	9	10	11	11	1	2	2	1	0	1	2	3	4	2	3	2	3	2	1	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124094552G>A	ENST00000238146.4	+	7	668	c.618G>A	c.(616-618)acG>acA	p.T206T	DDX55_ENST00000538744.1_Silent_p.T206T	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	206	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		CCACTCAGACGCAGGAAGTGG	0.567													A	124094552	G	A	124094552	2	1	364	1	0	0	0	0	0	0	0	1	4407	1074	38	1		1	DDX55	12	124094552	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143908	124094552	9757343	10047	33549											
TCTN2	79867	broad.mit.edu	37	chr12	124171495	124171495	+	Missense_Mutation	SNP	G	G	A																															ctctgctgggacgacgacacGtggtgtccccgattggtttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171495G>A	ENST00000303372.5	+	6	805	c.677G>A	c.(676-678)cGt>cAt	p.R226H	TCTN2_ENST00000426174.2_Missense_Mutation_p.R225H	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	226					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ACGACGACACGTGGTGTCCCC	0.527													A	124171495	G	A	124171495	3	1	364	1	0	0	0	0	1	0	0	0	15823	1145	40	1	699	1	TCTN2	12	124171495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76943	124171495	9680400	10048	33550	92	2									
TCTN2	79867	broad.mit.edu	37	chr12	124171499	124171499	+	Silent	SNP	T	T	C																															gctgggacgacgacacgtggTgtccccgattggtttccctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124171499T>C	ENST00000303372.5	+	6	809	c.681T>C	c.(679-681)ggT>ggC	p.G227G	TCTN2_ENST00000426174.2_Silent_p.G226G	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	227					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CGACACGTGGTGTCCCCGATT	0.542													C	124171499	T	C	124171499	2	2	364	1	0	0	0	0	0	0	0	1	15823	1683	59	3		3	TCTN2	12	124171499	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4	124171499	9680396	10049	33551	92	2									
TCTN2	79867	broad.mit.edu	37	chr12	124179474	124179474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaataataataccatcagTgaaataaatgttaaaatttt	19	14	5	3	0	1	1	1	1	0	0	1	2	1	2	1	1	1	1	1	1	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124179474T>C	ENST00000303372.5	+	10	1313	c.1185T>C	c.(1183-1185)agT>agC	p.S395S	TCTN2_ENST00000426174.2_Silent_p.S394S	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	395					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		ATACCATCAGTGAAATAAATG	0.318													C	124179474	T	C	124179474	2	2	364	1	0	0	0	0	0	0	0	1	15823	1693	59	3		3	TCTN2	12	124179474	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7975	124179474	9672421	10050	33552											
TCTN2	79867	broad.mit.edu	37	chr12	124180977	124180977	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaggttaccaacttggcaAgcctgtccgagctctaaata	11	11	8	11	1	2	0	0	0	2	0	3	1	3	0	3	2	4	3	3	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124180977A>C	ENST00000303372.5	+	12	1456	c.1328A>C	c.(1327-1329)aAg>aCg	p.K443T	TCTN2_ENST00000426174.2_Missense_Mutation_p.K442T	NM_001143850.2|NM_024809.4	NP_001137322.1|NP_079085.2	Q96GX1	TECT2_HUMAN	tectonic family member 2	443					cilium assembly|smoothened signaling pathway	integral to membrane				breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000163)|Epithelial(86;0.000502)|all cancers(50;0.00451)		CAACTTGGCAAGCCTGTCCGA	0.438													C	124180977	A	C	124180977	3	2	364	1	0	0	0	0	1	0	0	0	15823	72	3	5	1374	5	TCTN2	12	124180977	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1503	124180977	9670918	10051	33553											
DNAH10	196385	broad.mit.edu	37	chr12	124268500	124268500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcacctctcagggtaaaGgccctctggctgaaattgaa	11	11	9	10	0	3	2	2	2	2	0	4	2	3	2	2	3	0	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124268500G>T	ENST00000409039.3	+	8	848	c.823G>T	c.(823-825)Ggc>Tgc	p.G275C		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	275	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TCAGGGTAAAGGCCCTCTGGC	0.438													T	124268500	G	T	124268500	3	4	364	1	0	0	0	0	1	0	0	0	4637	1000	35	4	853	4	DNAH10	12	124268500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87523	124268500	9583395	10052	33554											
DNAH10	196385	broad.mit.edu	37	chr12	124283889	124283889	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacggagcaggtgctgccaGctctcatgaagaagagcctt	10	8	13	10	1	1	4	1	2	1	2	2	5	1	5	2	2	5	3	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124283889G>T	ENST00000409039.3	+	13	1931	c.1906G>T	c.(1906-1908)Gct>Tct	p.A636S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	636	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGTGCTGCCAGCTCTCATGAA	0.502													T	124283889	G	T	124283889	3	4	364	1	0	0	0	0	1	0	0	0	4637	971	34	4	1956	4	DNAH10	12	124283889	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15389	124283889	9568006	10053	33555											
DNAH10	196385	broad.mit.edu	37	chr12	124285903	124285903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaaacgatgcggagtctgtGcttctcaaagatcattccca	11	12	8	10	2	3	1	2	0	2	1	5	3	4	2	1	1	3	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124285903G>A	ENST00000409039.3	+	15	2209	c.2184G>A	c.(2182-2184)gtG>gtA	p.V728V		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	728	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CGGAGTCTGTGCTTCTCAAAG	0.443													A	124285903	G	A	124285903	2	1	364	1	0	0	0	0	0	0	0	1	4637	1306	46	2		2	DNAH10	12	124285903	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2014	124285903	9565992	10054	33556											
DNAH10	196385	broad.mit.edu	37	chr12	124332541	124332541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctaggtggggcccccgccGgcccagcaggaaccggcaaa	9	3	14	15	3	1	0	0	0	1	0	1	1	1	1	5	6	2	2	5	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124332541G>A	ENST00000409039.3	+	32	5519	c.5494G>A	c.(5494-5496)Ggc>Agc	p.G1832S		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1832	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGCCCCCGCCGGCCCAGCAGG	0.537													A	124332541	G	A	124332541	3	1	364	1	0	0	0	0	1	0	0	0	4637	1116	39	1	5620	1	DNAH10	12	124332541	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46638	124332541	9519354	10055	33557											
CCDC92	80212	broad.mit.edu	37	chr12	124421701	124421701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgggctgggcctgcggCggggtggcgtggtggatccg	2	7	21	11	5	0	0	0	0	0	0	2	1	1	1	3	8	1	1	3	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124421701C>T	ENST00000545135.1	-	3	4145	c.849G>A	c.(847-849)ccG>ccA	p.P283P	CCDC92_ENST00000238156.3_Silent_p.P300P|CCDC92_ENST00000544798.1_Intron|CCDC92_ENST00000545891.1_Silent_p.P283P			Q53HC0	CCD92_HUMAN	coiled-coil domain containing 92	300										large_intestine(5)|lung(2)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.0002)|OV - Ovarian serous cystadenocarcinoma(86;0.000222)|all cancers(50;0.00129)|BRCA - Breast invasive adenocarcinoma(302;0.242)		GGGCCTGCGGCGGGGTGGCGT	0.687													T	124421701	C	T	124421701	2	4	364	1	0	0	0	0	0	0	0	1	2899	755	27	1		1	CCDC92	12	124421701	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89160	124421701	9430194	10056	33558											
ZNF664	144348	broad.mit.edu	37	chr12	124497044	124497044	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaaaccgtatgtctgtaGtgagtgtggaaggggcttta	10	12	15	4	1	1	2	0	2	1	1	1	4	1	3	1	3	1	3	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124497044G>T	ENST00000539644.1	+	6	2183	c.353G>T	c.(352-354)aGt>aTt	p.S118I	ZNF664_ENST00000538932.2_Missense_Mutation_p.S118I|ZNF664_ENST00000392404.3_Missense_Mutation_p.S118I|ZNF664_ENST00000337815.4_Missense_Mutation_p.S118I|FAM101A_ENST00000545615.1_Intron			Q8N3J9	ZN664_HUMAN	zinc finger protein 664	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|large_intestine(5)|lung(6)|skin(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			Epithelial(86;0.000239)|OV - Ovarian serous cystadenocarcinoma(86;0.000247)|all cancers(50;0.00155)|BRCA - Breast invasive adenocarcinoma(302;0.249)		TATGTCTGTAGTGAGTGTGGA	0.448													T	124497044	G	T	124497044	3	4	364	1	0	0	0	0	1	0	0	0	18173	1029	36	4	355	4	ZNF664	12	124497044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75343	124497044	9354851	10057	33559											
NCOR2	9612	broad.mit.edu	37	chr12	124812048	124812048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcattcagagggttaaaagCattggcgctgagcggcgggg	9	7	18	7	3	1	2	1	1	0	1	1	2	1	2	0	6	2	4	0	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124812048C>T	ENST00000356219.3	-	46	7266	c.7111G>A	c.(7111-7113)Gct>Act	p.A2371T	NCOR2_ENST00000397355.1_Intron|NCOR2_ENST00000405201.1_Missense_Mutation_p.A2364T|NCOR2_ENST00000429285.2_Missense_Mutation_p.A2354T|NCOR2_ENST00000404621.1_Intron|NCOR2_ENST00000404121.2_Missense_Mutation_p.A1925T	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2375					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGGTTAAAAGCATTGGCGCTG	0.577													T	124812048	C	T	124812048	3	4	364	1	0	0	0	0	1	0	0	0	10312	710	25	2	466	2	NCOR2	12	124812048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	315004	124812048	9039847	10058	33560											
NCOR2	9612	broad.mit.edu	37	chr12	124816898	124816898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccggttgtgggtgttcaGcttcttgttgatctcttgct	3	19	11	8	1	3	1	1	1	2	0	5	1	4	1	1	2	2	5	1	2	0	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124816898G>A	ENST00000356219.3	-	44	7047	c.6892C>T	c.(6892-6894)Ctg>Ttg	p.L2298L	NCOR2_ENST00000397355.1_Silent_p.L2282L|NCOR2_ENST00000405201.1_Silent_p.L2291L|NCOR2_ENST00000429285.2_Silent_p.L2281L|NCOR2_ENST00000404621.1_Silent_p.L2281L|NCOR2_ENST00000404121.2_Silent_p.L1852L	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2302					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		TGGGTGTTCAGCTTCTTGTTG	0.612											OREG0022237	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	124816898	G	A	124816898	2	1	364	1	0	0	0	0	0	0	0	1	10312	962	34	2		2	NCOR2	12	124816898	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4850	124816898	9034997	10059	33561											
NCOR2	9612	broad.mit.edu	37	chr12	124817694	124817694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgggctccgtctgttccCcatcccggtacagcagcggg	5	8	12	16	3	1	0	0	0	1	0	4	0	4	0	5	3	3	4	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124817694C>A	ENST00000356219.3	-	43	6913	c.6758G>T	c.(6757-6759)gGg>gTg	p.G2253V	NCOR2_ENST00000397355.1_Missense_Mutation_p.G2237V|NCOR2_ENST00000405201.1_Missense_Mutation_p.G2246V|NCOR2_ENST00000429285.2_Missense_Mutation_p.G2236V|NCOR2_ENST00000404621.1_Missense_Mutation_p.G2236V|NCOR2_ENST00000404121.2_Missense_Mutation_p.G1807V	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2257					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGTCTGTTCCCCATCCCGGTA	0.652													A	124817694	C	A	124817694	3	1	364	1	0	0	0	0	1	0	0	0	10312	623	22	4	831	4	NCOR2	12	124817694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	796	124817694	9034201	10060	33562											
NCOR2	9612	broad.mit.edu	37	chr12	124870300	124870300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggggctcaccatcttcagCttgtgctgctgcaagatctc	6	12	11	12	0	4	1	2	0	2	1	5	1	4	1	1	2	4	5	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124870300C>T	ENST00000356219.3	-	18	2165	c.2010G>A	c.(2008-2010)aaG>aaA	p.K670K	NCOR2_ENST00000397355.1_Silent_p.K670K|NCOR2_ENST00000405201.1_Silent_p.K670K|NCOR2_ENST00000429285.2_Silent_p.K669K|NCOR2_ENST00000404621.1_Silent_p.K669K|NCOR2_ENST00000404121.2_Silent_p.K240K	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CCATCTTCAGCTTGTGCTGCT	0.582													T	124870300	C	T	124870300	2	4	364	1	0	0	0	0	0	0	0	1	10312	796	28	2		2	NCOR2	12	124870300	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52606	124870300	8981595	10061	33563											
NCOR2	9612	broad.mit.edu	37	chr12	124950731	124950731	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacatacccggttctcgtcGtagatgatctgcaccaggct	9	10	9	13	3	2	2	0	1	2	1	4	2	2	2	2	2	2	4	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:124950731G>A	ENST00000404121.2	-	0	848				NCOR2_ENST00000397355.1_Silent_p.Y231Y|NCOR2_ENST00000405201.1_Silent_p.Y231Y|NCOR2_ENST00000429285.2_Silent_p.Y231Y|NCOR2_ENST00000404621.1_Silent_p.Y231Y|NCOR2_ENST00000356219.3_Silent_p.Y231Y	NM_001206654.1	NP_001193583.1	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2						cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTTCTCGTCGTAGATGATCT	0.657													A	124950731	G	A	124950731	1	1	364	1	0	0	0	0	0	0	0	0	10312	1140	40	1		1	NCOR2	12	124950731	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80431	124950731	8901164	10062	33564											
SCARB1	949	broad.mit.edu	37	chr12	125270966	125270966	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcccagcgccaggaggacGtactgggcatagtgcatcac	10	5	13	13	2	1	0	1	0	0	0	1	2	1	2	2	3	4	3	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125270966G>A	ENST00000339570.5	-	11	1534	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000541205.1_Silent_p.Y405Y|SCARB1_ENST00000540495.1_Silent_p.Y409Y|SCARB1_ENST00000546215.1_Intron|SCARB1_ENST00000261693.6_Silent_p.Y446Y|SCARB1_ENST00000544327.1_Silent_p.Y392Y|SCARB1_ENST00000376788.1_Silent_p.Y346Y|SCARB1_ENST00000415380.2_Silent_p.Y446Y	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	446					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	CCAGGAGGACGTACTGGGCAT	0.612													A	125270966	G	A	125270966	2	1	364	1	0	0	0	0	0	0	0	1	13973	1140	40	1		1	SCARB1	12	125270966	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320235	125270966	8580929	10063	33565											
SCARB1	949	broad.mit.edu	37	chr12	125302182	125302182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacgtcaaagaagtagacGgagagatagaaggggatagg	17	5	16	3	2	1	5	1	1	0	4	1	8	1	7	0	4	0	1	0	4	6	3	rs138402577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125302182G>A	ENST00000339570.5	-	2	394	c.198C>T	c.(196-198)tcC>tcT	p.S66S	SCARB1_ENST00000535005.1_5'UTR|SCARB1_ENST00000541205.1_Silent_p.S25S|SCARB1_ENST00000540495.1_Silent_p.S29S|SCARB1_ENST00000546215.1_Silent_p.S66S|SCARB1_ENST00000261693.6_Silent_p.S66S|SCARB1_ENST00000544327.1_Silent_p.S12S|SCARB1_ENST00000376788.1_Intron|SCARB1_ENST00000415380.2_Silent_p.S66S	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	66					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	AGAAGTAGACGGAGAGATAGA	0.587													A	125302182	G	A	125302182	2	1	364	1	0	0	0	0	0	0	0	1	13973	1103	39	1		1	SCARB1	12	125302182	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31216	125302182	8549713	10064	33566											
UBC	7316	broad.mit.edu	37	chr12	125396346	125396346	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggtgcgtccatcttccaGctgtttcccagcaaagatca	9	10	9	13	1	2	1	1	0	1	1	5	1	5	1	3	1	3	3	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125396346G>T	ENST00000536769.1	-	1	3548	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M	UBC_ENST00000339647.5_Missense_Mutation_p.L658M|UBC_ENST00000546120.1_Missense_Mutation_p.L582M|UBC_ENST00000538617.1_Missense_Mutation_p.L278M			P0CG48	UBC_HUMAN	ubiquitin C	658	Ubiquitin-like 9.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CCATCTTCCAGCTGTTTCCCA	0.517													T	125396346	G	T	125396346	3	4	364	1	0	0	0	0	1	0	0	0	16944	962	34	4	89	4	UBC	12	125396346	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94164	125396346	8455549	10065	33567											
UBC	7316	broad.mit.edu	37	chr12	125397435	125397435	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacggagcaccaggtgcaGggtagactctttctggatgt	9	9	15	8	1	2	2	0	0	2	2	2	5	2	4	1	4	2	3	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125397435G>T	ENST00000536769.1	-	1	2459	c.883C>A	c.(883-885)Ctg>Atg	p.L295M	UBC_ENST00000339647.5_Missense_Mutation_p.L295M|UBC_ENST00000546120.1_Missense_Mutation_p.L219M|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	295	Ubiquitin-like 4.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAGGGTAGACTCT	0.547													T	125397435	G	T	125397435	3	4	364	1	0	0	0	0	1	0	0	0	16944	991	35	4	1178	4	UBC	12	125397435	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1089	125397435	8454460	10066	33568											
UBC	7316	broad.mit.edu	37	chr12	125398158	125398158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtagtcagacagggtgcGcccatcttccagctgttttc	6	13	11	11	1	2	1	1	0	1	1	4	1	3	1	2	1	2	4	2	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125398158G>A	ENST00000536769.1	-	1	1736	c.160C>T	c.(160-162)Cgc>Tgc	p.R54C	UBC_ENST00000339647.5_Missense_Mutation_p.R54C|UBC_ENST00000536661.1_5'UTR|UBC_ENST00000546120.1_Missense_Mutation_p.R54C|UBC_ENST00000538617.1_Missense_Mutation_p.R54C			P0CG48	UBC_HUMAN	ubiquitin C	54	Ubiquitin-like 1.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GACAGGGTGCGCCCATCTTCC	0.522													A	125398158	G	A	125398158	3	1	364	1	0	0	0	0	1	0	0	0	16944	1087	38	1	1901	1	UBC	12	125398158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	723	125398158	8453737	10067	33569											
AACS	65985	broad.mit.edu	37	chr12	125587292	125587292	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggaggctgttgtctataAtggcaaagagcacaaccaca	13	9	11	8	0	1	1	0	0	1	1	1	2	1	2	1	3	2	4	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:125587292A>C	ENST00000316519.6	+	6	844	c.638A>C	c.(637-639)aAt>aCt	p.N213T	AACS_ENST00000261686.6_Missense_Mutation_p.N213T	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	213					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		GTTGTCTATAATGGCAAAGAG	0.517													C	125587292	A	C	125587292	3	2	364	1	0	0	0	0	1	0	0	0	9	101	4	5	660	5	AACS	12	125587292	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	189134	125587292	8264603	10068	33570											
TMEM132B	114795	broad.mit.edu	37	chr12	126004064	126004064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggctggggcccagcagAttacctggcaggtggagtac	8	7	15	11	0	0	1	0	0	0	1	0	2	0	2	3	6	3	4	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126004064A>G	ENST00000299308.3	+	4	1179	c.1171A>G	c.(1171-1173)Att>Gtt	p.I391V		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	391						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GGCCCAGCAGATTACCTGGCA	0.502													G	126004064	A	G	126004064	3	3	364	1	0	0	0	0	1	0	0	0	16146	333	12	3	1185	3	TMEM132B	12	126004064	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	416772	126004064	7847831	10069	33571											
TMEM132B	114795	broad.mit.edu	37	chr12	126128633	126128633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaggtttccaacaaCtgtgattccatttttgtgaa	11	15	6	9	0	0	2	0	2	0	0	3	2	3	2	3	1	2	1	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:126128633C>T	ENST00000299308.3	+	6	1442	c.1434C>T	c.(1432-1434)aaC>aaT	p.N478N	TMEM132B_ENST00000535886.1_5'UTR	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	478						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		TTTCCAACAACTGTGATTCCA	0.448													T	126128633	C	T	126128633	2	4	364	1	0	0	0	0	0	0	0	1	16146	564	20	2		2	TMEM132B	12	126128633	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124569	126128633	7723262	10070	33572											
SLC15A4	121260	broad.mit.edu	37	chr12	129299482	129299482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacgcagacagtggggatcGcataaccagtgacaaagctg	13	5	13	10	3	0	2	0	1	0	1	1	4	0	3	1	2	2	3	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129299482G>A	ENST00000266771.5	-	2	719	c.680C>T	c.(679-681)gCg>gTg	p.A227V	SLC15A4_ENST00000539703.1_5'UTR	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	227					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	p.A227V(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		AGTGGGGATCGCATAACCAGT	0.498													A	129299482	G	A	129299482	3	1	364	1	0	0	0	0	1	0	0	0	14495	1087	38	1	1081	1	SLC15A4	12	129299482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3170849	129299482	4552413	10071	33573											
GLT1D1	144423	broad.mit.edu	37	chr12	129467473	129467473	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctccttccttttttgcaGgagtttgttcatctggcaaa	6	18	7	10	0	3	0	1	0	2	0	5	1	4	1	2	2	1	4	2	2	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129467473G>T	ENST00000442111.2	+	12	967		c.e12-1		GLT1D1_ENST00000281703.6_Splice_Site|GLT1D1_ENST00000537468.1_Splice_Site|GLT1D1_ENST00000542193.1_Splice_Site			Q96MS3	GL1D1_HUMAN	glycosyltransferase 1 domain containing 1						biosynthetic process	extracellular region	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.97e-06)|Epithelial(86;3.97e-05)|all cancers(50;0.00019)		CTTTTTTGCAGGAGTTTGTTC	0.443													T	129467473	G	T	129467473	5	4	364	1	0	0	0	0	0	0	1	0	6521	1014	35	4	669	4	GLT1D1	12	129467473	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167991	129467473	4384422	10072	33574											
TMEM132D	121256	broad.mit.edu	37	chr12	129558831	129558831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgcttaacccaacccaGtcatgagagtgactcatccc	10	9	8	14	1	2	2	2	2	0	1	3	3	3	2	3	1	3	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:129558831G>T	ENST00000422113.2	-	9	3215	c.2889C>A	c.(2887-2889)gaC>gaA	p.D963E	TMEM132D_ENST00000389441.4_Missense_Mutation_p.D501E	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	963						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		ACCCAACCCAGTCATGAGAGT	0.468													T	129558831	G	T	129558831	3	4	364	1	0	0	0	0	1	0	0	0	16147	1020	36	4	414	4	TMEM132D	12	129558831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91358	129558831	4293064	10073	33575											
TMEM132D	121256	broad.mit.edu	37	chr12	130184368	130184368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttacctcaacgtgaagcGatcttcagtggaatttctgg	10	12	10	9	2	4	1	2	1	2	0	4	4	4	2	1	2	3	0	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130184368G>A	ENST00000422113.2	-	2	1281	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	319						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		AACGTGAAGCGATCTTCAGTG	0.483													A	130184368	G	A	130184368	3	1	364	1	0	0	0	0	1	0	0	0	16147	1058	37	1	2376	1	TMEM132D	12	130184368	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625537	130184368	3667527	10074	33576											
TMEM132D	121256	broad.mit.edu	37	chr12	130185167	130185167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgtccgcgttgttgatGtggtaggtcacggggaggta	7	10	18	6	4	1	2	1	1	0	1	2	4	2	3	1	5	0	4	1	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130185167G>A	ENST00000422113.2	-	2	482	c.156C>T	c.(154-156)caC>caT	p.H52H		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	52						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGTTGTTGATGTGGTAGGTCA	0.557													A	130185167	G	A	130185167	2	1	364	1	0	0	0	0	0	0	0	1	16147	1368	48	2		2	TMEM132D	12	130185167	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	799	130185167	3666728	10075	33577											
FZD10	11211	broad.mit.edu	37	chr12	130649218	130649218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgagatccctgcccagtcGcccacctgcgtgtgaacagg	8	8	11	14	2	0	2	0	2	0	1	2	3	1	2	4	1	3	0	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130649218G>A	ENST00000229030.4	+	1	2215	c.1731G>A	c.(1729-1731)tcG>tcA	p.S577S	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	577					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CTGCCCAGTCGCCCACCTGCG	0.542													A	130649218	G	A	130649218	2	1	364	1	0	0	0	0	0	0	0	1	6181	1074	38	1		1	FZD10	12	130649218	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	464051	130649218	3202677	10076	33578											
PIWIL1	9271	broad.mit.edu	37	chr12	130846069	130846069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtgatgatcgttggcatCgattgttaccatgacatgac	9	13	10	9	3	0	4	0	4	0	0	3	5	0	4	1	1	1	3	1	1	1	3	rs35377726	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130846069C>T	ENST00000245255.3	+	16	2165	c.1893C>T	c.(1891-1893)atC>atT	p.I631I		NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	631	Piwi.|RNA-binding (By similarity).				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		TCGTTGGCATCGATTGTTACC	0.433													T	130846069	C	T	130846069	2	4	364	1	0	0	0	0	0	0	0	1	12034	874	31	1		1	PIWIL1	12	130846069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196851	130846069	3005826	10077	33579											
PIWIL1	9271	broad.mit.edu	37	chr12	130855859	130855859	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctgtgccacatctattaCaactggccagtaagtgcttc	11	11	8	11	0	1	0	0	0	1	0	2	0	1	0	2	1	5	3	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130855859C>T	ENST00000245255.3	+	20	2732	c.2460C>T	c.(2458-2460)taC>taT	p.Y820Y	PIWIL1_ENST00000541480.1_3'UTR	NM_001190971.1|NM_004764.4	NP_001177900.1|NP_004755.2	Q96J94	PIWL1_HUMAN	piwi-like RNA-mediated gene silencing 1	820	Piwi.				gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatid development	chromatoid body|P granule	mRNA binding|piRNA binding|protein binding			breast(6)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(26)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	57	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;3.02e-06)|Epithelial(86;3.85e-05)|all cancers(50;4.65e-05)		ACATCTATTACAACTGGCCAG	0.408													T	130855859	C	T	130855859	2	4	364	1	0	0	0	0	0	0	0	1	12034	489	17	2		2	PIWIL1	12	130855859	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9790	130855859	2996036	10078	33580											
RIMBP2	23504	broad.mit.edu	37	chr12	130912849	130912849	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagacccccggctgctctCtgtgtggtactcgtctccat	4	12	10	15	2	3	1	1	0	2	1	6	1	3	1	3	2	2	3	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130912849C>A	ENST00000261655.4	-	12	2399	c.2236G>T	c.(2236-2238)Gag>Tag	p.E746*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	746						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CGGCTGCTCTCTGTGTGGTAC	0.602													A	130912849	C	A	130912849	4	1	364	1	0	0	0	0	0	1	0	0	13452	922	32	4	954	4	RIMBP2	12	130912849	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56990	130912849	2939046	10079	33581											
RIMBP2	23504	broad.mit.edu	37	chr12	130926933	130926933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggcgagttgtttgatgaGggtgatttttctagggtaag	7	17	15	2	1	1	3	0	3	1	0	1	4	1	3	0	3	0	3	0	3	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:130926933G>T	ENST00000261655.4	-	8	1076	c.913C>A	c.(913-915)Ctc>Atc	p.L305I	RIMBP2_ENST00000535703.1_Missense_Mutation_p.L213I|RIMBP2_ENST00000536002.1_Missense_Mutation_p.L213I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	305	Fibronectin type-III 1.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGTTTGATGAGGGTGATTTTT	0.567													T	130926933	G	T	130926933	3	4	364	1	0	0	0	0	1	0	0	0	13452	1000	35	4	2293	4	RIMBP2	12	130926933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14084	130926933	2924962	10080	33582											
STX2	2054	broad.mit.edu	37	chr12	131291536	131291536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattactcacttatctccaGctggcgctggatgcggcctt	6	12	9	14	2	2	0	1	0	1	0	3	1	2	1	3	3	3	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131291536G>A	ENST00000261653.6	-	6	620	c.454C>T	c.(454-456)Ctg>Ttg	p.L152L	STX2_ENST00000392373.2_Silent_p.L152L	NM_001980.3	NP_001971.2	P32856	STX2_HUMAN	syntaxin 2	152					acrosome reaction|ectoderm development|intracellular protein transport|organ morphogenesis|signal transduction	basolateral plasma membrane|integral to membrane|microsome|soluble fraction	calcium-dependent protein binding|SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		CTTATCTCCAGCTGGCGCTGG	0.478													A	131291536	G	A	131291536	2	1	364	1	0	0	0	0	0	0	0	1	15441	962	34	2		2	STX2	12	131291536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	364603	131291536	2560359	10081	33583											
GPR133	283383	broad.mit.edu	37	chr12	131471764	131471764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgactatggagagtccaaCgtcaacctcgtgatagggtc	10	9	12	10	3	1	3	1	2	0	1	4	4	2	3	2	2	2	0	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131471764C>T	ENST00000261654.5	+	6	1174	c.615C>T	c.(613-615)aaC>aaT	p.N205N	GPR133_ENST00000535015.1_Silent_p.N237N	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	205					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GAGAGTCCAACGTCAACCTCG	0.532													T	131471764	C	T	131471764	2	4	364	1	0	0	0	0	0	0	0	1	6697	535	19	1		1	GPR133	12	131471764	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180228	131471764	2380131	10082	33584											
GPR133	283383	broad.mit.edu	37	chr12	131593422	131593422	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actactatgggatgggatggGgtaggtggggcagggcaggt	8	8	21	4	0	0	0	0	0	0	0	0	2	0	2	0	9	1	3	0	9	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:131593422G>T	ENST00000261654.5	+	18	2600	c.2041G>T	c.(2041-2043)Ggt>Tgt	p.G681C	GPR133_ENST00000376682.4_Splice_Site_p.G367C|GPR133_ENST00000543617.1_Splice_Site_p.G200C|GPR133_ENST00000535015.1_Splice_Site_p.G713C	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	681					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		gatgggatggggtaggtgggg	0.622													T	131593422	G	T	131593422	5	4	364	1	0	0	0	0	0	0	1	0	6697	1246	43	4	2111	4	GPR133	12	131593422	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121658	131593422	2258473	10083	33585											
PUS1	80324	broad.mit.edu	37	chr12	132426280	132426280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacgtgcccaaggcgcccGgactcggcctggtcctggag	5	6	16	14	4	0	0	0	0	0	0	2	3	1	3	4	6	1	0	4	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132426280G>A	ENST00000542167.2	+	4	1582	c.829G>A	c.(829-831)Gga>Aga	p.G277R	PUS1_ENST00000376649.3_Missense_Mutation_p.G330R|PUS1_ENST00000443358.2_Missense_Mutation_p.G302R|PUS1_ENST00000440818.2_Missense_Mutation_p.G302R|PUS1_ENST00000535067.1_Intron			Q9Y606	TRUA_HUMAN	pseudouridylate synthase 1	330						mitochondrion	pseudouridine synthase activity|pseudouridylate synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	11	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.05e-08)|Epithelial(86;2.51e-07)|all cancers(50;2.94e-07)		CAAGGCGCCCGGACTCGGCCT	0.647													A	132426280	G	A	132426280	3	1	364	1	0	0	0	0	1	0	0	0	12918	1117	39	1	1006	1	PUS1	12	132426280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	832858	132426280	1425615	10084	33586											
EP400	57634	broad.mit.edu	37	chr12	132448119	132448119	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggcagactgggactcccGttgctatagcaacccagctt	9	9	11	12	1	0	1	0	0	0	1	1	2	1	2	2	2	4	5	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132448119G>A	ENST00000333577.4	+	3	1487	c.1378G>A	c.(1378-1380)Gtt>Att	p.V460I	EP400_ENST00000389561.2_Intron|EP400_ENST00000330386.6_Intron|EP400_ENST00000332482.4_Intron|EP400_ENST00000389562.2_Intron			Q96L91	EP400_HUMAN	E1A binding protein p400	460					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		TGGGACTCCCGTTGCTATAGC	0.423													A	132448119	G	A	132448119	3	1	364	1	0	0	0	0	1	0	0	0	5190	1160	40	1		1	EP400	12	132448119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21839	132448119	1403776	10085	33587											
EP400	57634	broad.mit.edu	37	chr12	132491285	132491285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgttgtatggggctctcaGagattatcagaagattggcc	9	14	12	6	0	2	3	2	0	1	3	3	4	2	3	1	3	0	3	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132491285G>A	ENST00000333577.4	+	16	3384	c.3275G>A	c.(3274-3276)aGa>aAa	p.R1092K	EP400_ENST00000389561.2_Missense_Mutation_p.R1056K|EP400_ENST00000330386.6_Missense_Mutation_p.R1056K|EP400_ENST00000332482.4_Missense_Mutation_p.R1019K|EP400_ENST00000389562.2_Missense_Mutation_p.R1055K			Q96L91	EP400_HUMAN	E1A binding protein p400	1092	Interactions with RUVBL1 and RUVBL2.				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		GGGGCTCTCAGAGATTATCAG	0.428													A	132491285	G	A	132491285	3	1	364	1	0	0	0	0	1	0	0	0	5190	942	33	2	3218	2	EP400	12	132491285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43166	132491285	1360610	10086	33588											
EP400	57634	broad.mit.edu	37	chr12	132537755	132537755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctccgtgcagagcgaatcGcaaaagagaaaaaggtcagc	15	5	11	10	3	2	2	1	0	1	2	4	4	2	2	1	1	3	2	1	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132537755G>A	ENST00000333577.4	+	43	7676	c.7567G>A	c.(7567-7569)Gca>Aca	p.A2523T	EP400_ENST00000389561.2_Missense_Mutation_p.A2487T|EP400_ENST00000330386.6_Missense_Mutation_p.A2406T|EP400_ENST00000332482.4_Missense_Mutation_p.A2450T|EP400_ENST00000389562.2_Missense_Mutation_p.A2486T			Q96L91	EP400_HUMAN	E1A binding protein p400	2523					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		AGAGCGAATCGCAAAAGAGAA	0.537													A	132537755	G	A	132537755	3	1	364	1	0	0	0	0	1	0	0	0	5190	1087	38	1	7618	1	EP400	12	132537755	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46470	132537755	1314140	10087	33589											
GALNT9	50614	broad.mit.edu	37	chr12	132681707	132681707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacttctgccccgagcacCtctgtaccaccagccggagc	7	7	8	19	2	2	0	0	0	2	0	3	2	3	1	7	1	5	2	7	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132681707C>A	ENST00000328957.8	-	11	1756	c.1757G>T	c.(1756-1758)aGg>aTg	p.R586M	GALNT9_ENST00000535228.1_Missense_Mutation_p.R337M|GALNT9_ENST00000541995.1_Missense_Mutation_p.R220M|GALNT9_ENST00000397325.2_Missense_Mutation_p.R220M	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	586	Ricin B-type lectin.				protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CCCCGAGCACCTCTGTACCAC	0.647													A	132681707	C	A	132681707	3	1	364	1	0	0	0	0	1	0	0	0	6274	681	24	4	58	4	GALNT9	12	132681707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143952	132681707	1170188	10088	33590											
GALNT9	50614	broad.mit.edu	37	chr12	132688117	132688117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccacacctcggcggcgCgcagggcgttgcgcttggca	5	6	14	16	6	0	0	0	0	0	0	2	0	1	0	3	4	1	4	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:132688117C>T	ENST00000328957.8	-	7	1195	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H	GALNT9_ENST00000535228.1_Missense_Mutation_p.R150H|GALNT9_ENST00000541995.1_Missense_Mutation_p.R33H|GALNT9_ENST00000397325.2_Missense_Mutation_p.R33H	NM_001122636.1	NP_001116108.1	Q9HCQ5	GALT9_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 9 (GalNAc-T9)	399					protein O-linked glycosylation	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(5)	9	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.49e-08)|Epithelial(86;3.55e-07)|all cancers(50;2.09e-05)		CTCGGCGGCGCGCAGGGCGTT	0.637													T	132688117	C	T	132688117	3	4	364	1	0	0	0	0	1	0	0	0	6274	768	27	1	635	1	GALNT9	12	132688117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6410	132688117	1163778	10089	33591											
POLE	5426	broad.mit.edu	37	chr12	133201324	133201324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgcagcagccactccaGggtctccaggaggtacgaca	9	7	11	14	1	2	0	0	0	2	0	4	2	3	1	3	3	4	3	3	3	1	2	rs148788180	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201324G>T	ENST00000320574.5	-	49	6863	c.6820C>A	c.(6820-6822)Ctg>Atg	p.L2274M	POLE_ENST00000535270.1_Missense_Mutation_p.L2247M	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2274					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGCCACTCCAGGGTCTCCAGG	0.607								DNA polymerases (catalytic subunits)					T	133201324	G	T	133201324	3	4	364	1	0	0	0	0	1	0	0	0	12273	991	35	4	44	4	POLE	12	133201324	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	513207	133201324	650571	10090	33592											
POLE	5426	broad.mit.edu	37	chr12	133201533	133201533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtctcccgcgcagctgcaGtacacaggcatgctggtctc	8	8	11	14	2	2	0	0	0	2	0	4	0	2	0	1	2	4	6	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133201533G>A	ENST00000320574.5	-	48	6748	c.6705C>T	c.(6703-6705)taC>taT	p.Y2235Y	POLE_ENST00000535270.1_Silent_p.Y2208Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2235					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CGCAGCTGCAGTACACAGGCA	0.672								DNA polymerases (catalytic subunits)					A	133201533	G	A	133201533	2	1	364	1	0	0	0	0	0	0	0	1	12273	1024	36	2		2	POLE	12	133201533	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209	133201533	650362	10091	33593											
POLE	5426	broad.mit.edu	37	chr12	133202895	133202895	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttgtgatgttggtgtccagGgacagcacctgcagagacca	9	10	13	9	0	0	2	0	1	0	1	1	4	1	3	3	2	2	3	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133202895G>A	ENST00000320574.5	-	46	6382	c.6339C>T	c.(6337-6339)tcC>tcT	p.S2113S	POLE_ENST00000535270.1_Silent_p.S2086S	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	2113					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGTGTCCAGGGACAGCACCT	0.607								DNA polymerases (catalytic subunits)					A	133202895	G	A	133202895	2	1	364	1	0	0	0	0	0	0	0	1	12273	1219	43	2		2	POLE	12	133202895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1362	133202895	649000	10092	33594											
POLE	5426	broad.mit.edu	37	chr12	133219227	133219227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagataggcaccagtgggAattcctccaagacaggaatt	14	7	10	10	0	0	2	0	0	0	2	2	4	2	4	3	3	0	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219227A>T	ENST00000320574.5	-	37	4860	c.4817T>A	c.(4816-4818)tTc>tAc	p.F1606Y	POLE_ENST00000535270.1_Missense_Mutation_p.F1579Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1606					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACCAGTGGGAATTCCTCCAA	0.602								DNA polymerases (catalytic subunits)					T	133219227	A	T	133219227	3	4	364	1	0	0	0	0	1	0	0	0	12273	246	9	5	2095	5	POLE	12	133219227	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16332	133219227	632668	10093	33595											
POLE	5426	broad.mit.edu	37	chr12	133219468	133219468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcaggtcagtttctgcccGaacttcgaaggtgtgtttgg	6	14	12	9	2	3	0	2	0	1	0	4	2	3	0	1	3	2	2	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133219468G>A	ENST00000320574.5	-	36	4709	c.4666C>T	c.(4666-4668)Cgg>Tgg	p.R1556W	POLE_ENST00000535270.1_Missense_Mutation_p.R1529W	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1556					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GTTTCTGCCCGAACTTCGAAG	0.607								DNA polymerases (catalytic subunits)					A	133219468	G	A	133219468	3	1	364	1	0	0	0	0	1	0	0	0	12273	1057	37	1	2250	1	POLE	12	133219468	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241	133219468	632427	10094	33596											
POLE	5426	broad.mit.edu	37	chr12	133226432	133226432	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagtcctccatgtcaggaGcacttggcctcggactgtct	7	10	11	13	2	2	0	1	0	1	0	5	3	4	2	3	3	1	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133226432G>T	ENST00000320574.5	-	30	3669	c.3626C>A	c.(3625-3627)gCt>gAt	p.A1209D	POLE_ENST00000535270.1_Missense_Mutation_p.A1182D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1209					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CATGTCAGGAGCACTTGGCCT	0.597								DNA polymerases (catalytic subunits)					T	133226432	G	T	133226432	3	4	364	1	0	0	0	0	1	0	0	0	12273	971	34	4	3314	4	POLE	12	133226432	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6964	133226432	625463	10095	33597											
POLE	5426	broad.mit.edu	37	chr12	133241015	133241015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcccctgtgaagcagacGatgccagccatctccatgga	9	8	11	13	1	1	2	0	1	1	1	2	4	1	3	5	2	3	1	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133241015G>A	ENST00000320574.5	-	22	2545	c.2502C>T	c.(2500-2502)atC>atT	p.I834I	POLE_ENST00000535270.1_Silent_p.I807I	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	834					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGAAGCAGACGATGCCAGCCA	0.627								DNA polymerases (catalytic subunits)					A	133241015	G	A	133241015	2	1	364	1	0	0	0	0	0	0	0	1	12273	1048	37	1		1	POLE	12	133241015	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14583	133241015	610880	10096	33598											
POLE	5426	broad.mit.edu	37	chr12	133249410	133249410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcacacagagtgccagAgcccttccgcagcacctgca	9	5	10	17	1	1	2	1	0	0	2	2	2	2	2	5	1	4	3	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133249410A>G	ENST00000320574.5	-	15	1532	c.1489T>C	c.(1489-1491)Tct>Cct	p.S497P	POLE_ENST00000535270.1_Missense_Mutation_p.S470P	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	497					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		AGAGTGCCAGAGCCCTTCCGC	0.542								DNA polymerases (catalytic subunits)					G	133249410	A	G	133249410	3	3	364	1	0	0	0	0	1	0	0	0	12273	304	11	3	5511	3	POLE	12	133249410	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8395	133249410	602485	10097	33599											
POLE	5426	broad.mit.edu	37	chr12	133253151	133253151	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggccatcgatcatgtagGaaatcatcataatctggtct	11	12	8	10	1	5	0	3	0	2	0	6	2	5	1	2	3	0	1	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133253151G>T	ENST00000320574.5	-	9	933	c.890C>A	c.(889-891)tCc>tAc	p.S297Y	POLE_ENST00000535270.1_Missense_Mutation_p.S270Y	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	297					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		GATCATGTAGGAAATCATCAT	0.527								DNA polymerases (catalytic subunits)					T	133253151	G	T	133253151	3	4	364	1	0	0	0	0	1	0	0	0	12273	1174	41	4	6134	4	POLE	12	133253151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3741	133253151	598744	10098	33600											
ANKLE2	23141	broad.mit.edu	37	chr12	133312047	133312047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttgacgtggtgaaggaAgcctgctttctctcgaggtg	6	13	13	9	2	2	2	0	2	2	0	4	4	2	3	1	3	2	1	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133312047A>G	ENST00000539605.1	-	8	8143	c.1459T>C	c.(1459-1461)Ttc>Ctc	p.F487L	ANKLE2_ENST00000337516.5_Missense_Mutation_p.F549L|ANKLE2_ENST00000357997.5_Missense_Mutation_p.F549L			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	549						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		TGGTGAAGGAAGCCTGCTTTC	0.527													G	133312047	A	G	133312047	3	3	364	1	0	0	0	0	1	0	0	0	633	72	3	3	1191	3	ANKLE2	12	133312047	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58896	133312047	539848	10099	33601											
ANKLE2	23141	broad.mit.edu	37	chr12	133324479	133324479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggatacgcttctgcagcatgGcctcgtcgtcatcagggtac	7	10	12	12	3	3	0	2	0	1	0	5	1	3	1	1	3	4	4	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133324479G>A	ENST00000539605.1	-	4	7667	c.983C>T	c.(982-984)gCc>gTc	p.A328V	ANKLE2_ENST00000337516.5_Missense_Mutation_p.A390V|ANKLE2_ENST00000357997.5_Missense_Mutation_p.A390V			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	390						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CTGCAGCATGGCCTCGTCGTC	0.542													A	133324479	G	A	133324479	3	1	364	1	0	0	0	0	1	0	0	0	633	1203	42	2	1683	2	ANKLE2	12	133324479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12432	133324479	527416	10100	33602											
ANKLE2	23141	broad.mit.edu	37	chr12	133327369	133327369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtagaaaaagctttaaatCgggaccctttgatcatcttg	12	13	9	7	1	2	2	1	1	1	1	3	3	2	3	1	2	1	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133327369C>T	ENST00000539605.1	-	2	7205	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R236Q|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R236Q			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	236						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		AGCTTTAAATCGGGACCCTTT	0.373													T	133327369	C	T	133327369	3	4	364	1	0	0	0	0	1	0	0	0	633	884	31	1	2153	1	ANKLE2	12	133327369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2890	133327369	524526	10101	33603											
GOLGA3	2802	broad.mit.edu	37	chr12	133381515	133381515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagctcagcgaatcctgccGctgctggctgctgtggctgc	4	9	14	14	3	1	0	1	0	0	0	2	2	2	0	2	2	6	6	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133381515G>A	ENST00000204726.3	-	7	1942	c.1384C>T	c.(1384-1386)Cgg>Tgg	p.R462W	GOLGA3_ENST00000545875.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000450791.2_Missense_Mutation_p.R462W|GOLGA3_ENST00000537452.1_Missense_Mutation_p.R462W|GOLGA3_ENST00000456883.2_Missense_Mutation_p.R462W	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	462					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GAATCCTGCCGCTGCTGGCTG	0.612													A	133381515	G	A	133381515	3	1	364	1	0	0	0	0	1	0	0	0	6610	1086	38	1	3322	1	GOLGA3	12	133381515	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54146	133381515	470380	10102	33604											
GOLGA3	2802	broad.mit.edu	37	chr12	133385045	133385045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atattcttttgtcatagccaGggtactggcccttggtaagt	8	15	10	8	0	2	0	1	0	1	0	2	0	2	0	2	3	2	2	2	3	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133385045G>T	ENST00000204726.3	-	5	1168	c.610C>A	c.(610-612)Ctg>Atg	p.L204M	GOLGA3_ENST00000545875.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000450791.2_Missense_Mutation_p.L204M|GOLGA3_ENST00000537452.1_Missense_Mutation_p.L204M|GOLGA3_ENST00000456883.2_Missense_Mutation_p.L204M	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	204	Golgi-targeting domain.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GTCATAGCCAGGGTACTGGCC	0.512													T	133385045	G	T	133385045	3	4	364	1	0	0	0	0	1	0	0	0	6610	991	35	4	4104	4	GOLGA3	12	133385045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3530	133385045	466850	10103	33605											
ZNF140	7699	broad.mit.edu	37	chr12	133682649	133682649	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcctccaacctcactcgAcatcaaagaattcacatagg	13	8	6	14	2	3	1	3	0	0	1	5	2	4	1	3	1	2	0	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682649A>T	ENST00000355557.2	+	5	2069	c.786A>T	c.(784-786)cgA>cgT	p.R262R	ZNF140_ENST00000544426.1_Silent_p.R159R|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	262						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		ACCTCACTCGACATCAAAGAA	0.413													T	133682649	A	T	133682649	2	4	364	1	0	0	0	0	0	0	0	1	17830	262	10	5		5	ZNF140	12	133682649	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	297604	133682649	169246	10104	33606											
ZNF140	7699	broad.mit.edu	37	chr12	133682774	133682774	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagaaaccttatgaatgcaTtgaatgtgggaaggcatttc	14	11	11	5	0	0	3	0	2	0	1	1	5	0	4	1	2	2	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr12:133682774T>A	ENST00000355557.2	+	5	2194	c.911T>A	c.(910-912)aTt>aAt	p.I304N	ZNF140_ENST00000544426.1_Missense_Mutation_p.I201N|ZNF140_ENST00000440550.2_3'UTR	NM_003440.2	NP_003431.2	P52738	ZN140_HUMAN	zinc finger protein 140	304						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;1.28e-06)|all_epithelial(31;0.0051)|Lung NSC(355;0.114)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		TATGAATGCATTGAATGTGGG	0.408													A	133682774	T	A	133682774	3	1	364	1	0	0	0	0	1	0	0	0	17830	1493	52	5	925	5	ZNF140	12	133682774	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	125	133682774	169121	10105	33607											
TUBA3C	7278	broad.mit.edu	37	chr13	19748045	19748045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggcttccacggaatcCacgcccacctcttcataatc	8	9	6	18	3	2	0	1	0	1	0	6	1	4	1	5	2	0	1	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748045C>A	ENST00000400113.3	-	5	1415	c.1311G>T	c.(1309-1311)gtG>gtT	p.V437V		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	437					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CCACGGAATCCACGCCCACCT	0.597													A	19748045	C	A	19748045	2	1	364	1	0	0	0	0	0	0	0	1	16848	581	21	4		4	TUBA3C	13	19748045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		19748045	95421833	10106	33608											
TUBA3C	7278	broad.mit.edu	37	chr13	19748151	19748151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaccagtgcacaaaggccCgcttggcatacatgagatcg	11	7	11	12	3	0	1	0	1	0	1	1	2	0	1	2	2	3	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19748151C>T	ENST00000400113.3	-	5	1309	c.1205G>A	c.(1204-1206)cGg>cAg	p.R402Q		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	402					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CACAAAGGCCCGCTTGGCATA	0.612													T	19748151	C	T	19748151	3	4	364	1	0	0	0	0	1	0	0	0	16848	652	23	1	151	1	TUBA3C	13	19748151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	19748151	95421727	10107	33609											
TUBA3C	7278	broad.mit.edu	37	chr13	19751365	19751365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggttggtctggaattccGtcaagtccacattcagggcc	8	11	11	11	1	3	0	2	0	1	0	5	1	5	1	3	4	0	1	3	4	3	4	rs139914455		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:19751365G>A	ENST00000400113.3	-	4	862	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	253					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		CTGGAATTCCGTCAAGTCCAC	0.617													A	19751365	G	A	19751365	3	1	364	1	0	0	0	0	1	0	0	0	16848	1145	40	1	602	1	TUBA3C	13	19751365	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3214	19751365	95418513	10108	33610											
PSPC1	55269	broad.mit.edu	37	chr13	20315777	20315777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtctgagttcttcttgaCgcctcattagatctataaaa	11	14	7	9	2	5	3	1	2	4	1	5	3	5	3	1	0	1	1	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20315777C>T	ENST00000338910.4	-	5	1139	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	327	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding			breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTCTTCTTGACGCCTCATTAG	0.333													T	20315777	C	T	20315777	3	4	364	1	0	0	0	0	1	0	0	0	12801	536	19	1	611	1	PSPC1	13	20315777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	564412	20315777	94854101	10109	33611											
ZMYM5	9205	broad.mit.edu	37	chr13	20398892	20398892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgaggttgaataaagtaAccaggatctagtggtttttt	11	17	10	3	0	1	2	0	2	1	0	1	3	1	3	1	3	1	3	1	3	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20398892A>G	ENST00000337963.4	-	8	1999	c.1735T>C	c.(1735-1737)Tta>Cta	p.L579L		NM_001142684.1	NP_001136156.1	Q9UJ78	ZMYM5_HUMAN	zinc finger, MYM-type 5	579						nucleus	zinc ion binding			kidney(1)|large_intestine(5)|lung(9)	15		all_cancers(29;2.96e-22)|all_epithelial(30;3.76e-20)|all_lung(29;4.38e-20)|Lung NSC(5;5.8e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.61e-05)|Epithelial(112;4.89e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00171)|Lung(94;0.00942)|LUSC - Lung squamous cell carcinoma(192;0.0431)		gaataaagtaaccaggatcta	0.323													G	20398892	A	G	20398892	2	3	364	1	0	0	0	0	0	0	0	1	17804	40	2	3		3	ZMYM5	13	20398892	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	83115	20398892	94770986	10110	33612											
ZMYM2	7750	broad.mit.edu	37	chr13	20577209	20577209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagctcacctcttttgttCtaccacctgcctttcttcct	5	17	3	16	0	5	0	2	0	3	0	6	0	6	0	5	0	3	2	5	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20577209C>A	ENST00000382869.3	+	4	1318	c.1067C>A	c.(1066-1068)tCt>tAt	p.S356Y	ZMYM2_ENST00000382881.3_Missense_Mutation_p.S269Y|ZMYM2_ENST00000382871.2_Missense_Mutation_p.S356Y|ZMYM2_ENST00000382874.2_Missense_Mutation_p.S356Y	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CTCTTTTGTTCTACCACCTGC	0.398													A	20577209	C	A	20577209	3	1	364	1	0	0	0	0	1	0	0	0	17801	913	32	4	1073	4	ZMYM2	13	20577209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178317	20577209	94592669	10111	33613											
ZMYM2	7750	broad.mit.edu	37	chr13	20660111	20660111	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttcttctagtaaaagataTttatgataaagacaattatg	16	15	7	3	0	2	3	0	1	2	2	2	3	2	3	0	1	0	2	0	1	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20660111T>G	ENST00000382869.3	+	25	4342	c.4091T>G	c.(4090-4092)aTt>aGt	p.I1364S	ZMYM2_ENST00000382871.2_Missense_Mutation_p.I1364S|ZMYM2_ENST00000382874.2_Missense_Mutation_p.I1364S	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GTAAAAGATATTTATGATAAA	0.393													G	20660111	T	G	20660111	3	3	364	1	0	0	0	0	1	0	0	0	17801	1493	52	5	4181	5	ZMYM2	13	20660111	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82902	20660111	94509767	10112	33614											
GJB6	10804	broad.mit.edu	37	chr13	20797204	20797204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgattcggaaaaagatgCtgctggtgtacgtccaccac	12	9	11	9	2	0	3	0	1	0	2	2	4	1	4	2	2	3	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:20797204C>T	ENST00000356192.6	-	5	1036	c.416G>A	c.(415-417)aGc>aAc	p.S139N	GJB6_ENST00000241124.6_Missense_Mutation_p.S139N|GJB6_ENST00000400066.3_Missense_Mutation_p.S139N|GJB6_ENST00000400065.3_Missense_Mutation_p.S139N	NM_001110219.2	NP_001103689.1	O95452	CXB6_HUMAN	gap junction protein, beta 6, 30kDa	139			S -> G.		cell communication|sensory perception of sound	connexon complex|integral to membrane|intracellular membrane-bounded organelle				biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)	9		all_cancers(29;2.04e-22)|all_epithelial(30;1.19e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;2.17e-05)|Epithelial(112;0.00075)|OV - Ovarian serous cystadenocarcinoma(117;0.00978)|Lung(94;0.0238)|GBM - Glioblastoma multiforme(144;0.0323)|LUSC - Lung squamous cell carcinoma(192;0.0744)		GAAAAAGATGCTGCTGGTGTA	0.453													T	20797204	C	T	20797204	3	4	364	1	0	0	0	0	1	0	0	0	6468	797	28	2	373	2	GJB6	13	20797204	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	137093	20797204	94372674	10113	33615											
XPO4	64328	broad.mit.edu	37	chr13	21395934	21395934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttcacttggaatggcaGttaaaacatttcgtgggaac	14	11	10	6	1	1	0	1	0	0	0	2	2	1	2	0	3	2	3	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:21395934G>A	ENST00000400602.2	-	9	1117	c.1082C>T	c.(1081-1083)aCt>aTt	p.T361I	XPO4_ENST00000255305.6_Missense_Mutation_p.T361I	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	361					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TGGAATGGCAGTTAAAACATT	0.433													A	21395934	G	A	21395934	3	1	364	1	0	0	0	0	1	0	0	0	17548	1029	36	2	2433	2	XPO4	13	21395934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	598730	21395934	93773944	10114	33616											
FGF9	2254	broad.mit.edu	37	chr13	22275412	22275412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaaacctatataagcaCgtggacactggaaggcgata	15	8	9	9	2	2	0	2	0	0	0	2	3	2	2	1	3	2	1	1	3	6	4	rs143118647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:22275412C>T	ENST00000382353.5	+	3	995	c.465C>T	c.(463-465)caC>caT	p.H155H	FGF9_ENST00000478546.1_3'UTR	NM_002010.2	NP_002001.1	P31371	FGF9_HUMAN	fibroblast growth factor 9	155					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|male gonad development|positive regulation of cell division	extracellular space	growth factor activity|heparin binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(2)	9		all_cancers(29;1.23e-20)|all_epithelial(30;9.83e-19)|all_lung(29;9.64e-17)|Lung SC(185;0.0262)|Breast(139;0.106)		all cancers(112;3.92e-05)|Epithelial(112;0.000166)|OV - Ovarian serous cystadenocarcinoma(117;0.00314)|Lung(94;0.163)		TATATAAGCACGTGGACACTG	0.388													T	22275412	C	T	22275412	2	4	364	1	0	0	0	0	0	0	0	1	5908	535	19	1		1	FGF9	13	22275412	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879478	22275412	92894466	10115	33617											
SACS	26278	broad.mit.edu	37	chr13	23905037	23905037	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaaccgcctaataatcttTtttcgttccgattctggaag	10	15	6	10	3	2	0	0	0	2	0	4	2	3	1	3	1	2	1	3	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905037T>G	ENST00000382298.3	-	10	13566	c.12978A>C	c.(12976-12978)aaA>aaC	p.K4326N	SACS_ENST00000382292.3_Missense_Mutation_p.K4326N|SACS_ENST00000402364.1_Missense_Mutation_p.K3576N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4326	J.				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TAATAATCTTTTTTCGTTCCG	0.373													G	23905037	T	G	23905037	3	3	364	1	0	0	0	0	1	0	0	0	13895	1838	64	5	765	5	SACS	13	23905037	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1629625	23905037	91264841	10116	33618											
SACS	26278	broad.mit.edu	37	chr13	23905914	23905914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggctttgcaaagtcttatgGctttttcttcattggccaga	7	16	10	8	0	3	1	1	0	2	1	3	1	3	1	1	3	1	3	1	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23905914G>T	ENST00000382298.3	-	10	12689	c.12101C>A	c.(12100-12102)gCc>gAc	p.A4034D	SACS_ENST00000382292.3_Missense_Mutation_p.A4034D|SACS_ENST00000402364.1_Missense_Mutation_p.A3284D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	4034					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAGTCTTATGGCTTTTTCTTC	0.353													T	23905914	G	T	23905914	3	4	364	1	0	0	0	0	1	0	0	0	13895	1203	42	4	1642	4	SACS	13	23905914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	877	23905914	91263964	10117	33619											
SACS	26278	broad.mit.edu	37	chr13	23906959	23906959	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaattttggatttacctGtgctccattgaactttataa	10	18	6	7	0	0	2	0	2	0	0	1	3	1	3	2	1	3	1	2	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23906959G>A	ENST00000382298.3	-	10	11644	c.11056C>T	c.(11056-11058)Cag>Tag	p.Q3686*	SACS_ENST00000382292.3_Nonsense_Mutation_p.Q3686*|SACS_ENST00000402364.1_Nonsense_Mutation_p.Q2936*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3686					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGATTTACCTGTGCTCCATTG	0.413													A	23906959	G	A	23906959	4	1	364	1	0	0	0	0	0	1	0	0	13895	1386	48	2	2687	2	SACS	13	23906959	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1045	23906959	91262919	10118	33620											
SACS	26278	broad.mit.edu	37	chr13	23907741	23907741	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtacgtagcatgttccaaatTttccaatgcttacatagcgg	11	13	8	9	2	0	0	0	0	0	0	2	0	2	0	2	1	5	5	2	1	6	7	rs147317123	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23907741T>C	ENST00000382298.3	-	10	10862	c.10274A>G	c.(10273-10275)aAa>aGa	p.K3425R	SACS_ENST00000382292.3_Missense_Mutation_p.K3425R|SACS_ENST00000402364.1_Missense_Mutation_p.K2675R	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3425					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTTCCAAATTTTCCAATGCT	0.363													C	23907741	T	C	23907741	3	2	364	1	0	0	0	0	1	0	0	0	13895	1841	64	3	3469	3	SACS	13	23907741	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	782	23907741	91262137	10119	33621											
SACS	26278	broad.mit.edu	37	chr13	23909491	23909491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagagtaatatcttggtTcttgtgagctgatatgacac	13	13	10	5	0	2	4	0	3	2	1	2	5	2	4	0	1	1	3	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23909491T>C	ENST00000382298.3	-	10	9112	c.8524A>G	c.(8524-8526)Aac>Gac	p.N2842D	SACS_ENST00000382292.3_Missense_Mutation_p.N2842D|SACS_ENST00000402364.1_Missense_Mutation_p.N2092D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2842					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATATCTTGGTTCTTGTGAGCT	0.393													C	23909491	T	C	23909491	3	2	364	1	0	0	0	0	1	0	0	0	13895	1783	62	3	5219	3	SACS	13	23909491	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1750	23909491	91260387	10120	33622											
SACS	26278	broad.mit.edu	37	chr13	23911012	23911012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacttatcaataattgacaTcttagtgatttcattttgca	13	18	4	6	0	3	2	2	2	1	0	3	2	3	2	0	0	2	1	0	0	5	8	rs143414642	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911012T>C	ENST00000382298.3	-	10	7591	c.7003A>G	c.(7003-7005)Atg>Gtg	p.M2335V	SACS_ENST00000382292.3_Missense_Mutation_p.M2335V|SACS_ENST00000402364.1_Missense_Mutation_p.M1585V	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2335					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAATTGACATCTTAGTGATT	0.338													C	23911012	T	C	23911012	3	2	364	1	0	0	0	0	1	0	0	0	13895	1435	50	3	6740	3	SACS	13	23911012	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1521	23911012	91258866	10121	33623											
SACS	26278	broad.mit.edu	37	chr13	23911318	23911318	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtttcaggcttaaaacTgttgcctttccagtccaaag	10	13	8	10	0	1	0	1	0	0	0	3	0	3	0	3	2	2	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23911318T>C	ENST00000382298.3	-	10	7285	c.6697A>G	c.(6697-6699)Agt>Ggt	p.S2233G	SACS_ENST00000382292.3_Missense_Mutation_p.S2233G|SACS_ENST00000402364.1_Missense_Mutation_p.S1483G	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2233					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GGCTTAAAACTGTTGCCTTTC	0.383													C	23911318	T	C	23911318	3	2	364	1	0	0	0	0	1	0	0	0	13895	1580	55	3	7046	3	SACS	13	23911318	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	306	23911318	91258560	10122	33624											
SACS	26278	broad.mit.edu	37	chr13	23912410	23912410	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaaatagcaaaacacctCtccaatgtgtggtttcactg	13	11	8	9	0	2	0	1	0	1	0	3	0	2	0	2	2	2	3	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912410C>A	ENST00000382298.3	-	10	6193	c.5605G>T	c.(5605-5607)Gag>Tag	p.E1869*	SACS_ENST00000382292.3_Nonsense_Mutation_p.E1869*|SACS_ENST00000402364.1_Nonsense_Mutation_p.E1119*	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1869					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		CAAAACACCTCTCCAATGTGT	0.433													A	23912410	C	A	23912410	4	1	364	1	0	0	0	0	0	1	0	0	13895	922	32	4	8138	4	SACS	13	23912410	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1092	23912410	91257468	10123	33625											
SACS	26278	broad.mit.edu	37	chr13	23912848	23912848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagacaggtgtgttcaatgCtttggaagagcaggattttt	11	14	12	4	0	1	2	1	0	0	2	1	4	1	4	0	3	2	3	0	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23912848C>T	ENST00000382298.3	-	10	5755	c.5167G>A	c.(5167-5169)Gca>Aca	p.A1723T	SACS_ENST00000382292.3_Missense_Mutation_p.A1723T|SACS_ENST00000402364.1_Missense_Mutation_p.A973T	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1723					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTGTTCAATGCTTTGGAAGAG	0.363													T	23912848	C	T	23912848	3	4	364	1	0	0	0	0	1	0	0	0	13895	797	28	2	8576	2	SACS	13	23912848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	438	23912848	91257030	10124	33626											
SACS	26278	broad.mit.edu	37	chr13	23914982	23914982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggacccataacataagCtgtgttacctcttcatgtga	12	12	7	10	0	3	1	2	1	1	0	3	2	3	2	2	1	3	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23914982C>T	ENST00000382298.3	-	10	3621	c.3033G>A	c.(3031-3033)caG>caA	p.Q1011Q	SACS_ENST00000382292.3_Silent_p.Q1011Q|SACS_ENST00000402364.1_Silent_p.Q261Q	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	1011					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		ATAACATAAGCTGTGTTACCT	0.328													T	23914982	C	T	23914982	2	4	364	1	0	0	0	0	0	0	0	1	13895	796	28	2		2	SACS	13	23914982	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2134	23914982	91254896	10125	33627											
SACS	26278	broad.mit.edu	37	chr13	23915088	23915088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcaacatgtttgccagaCgaatagtagcttcatcacta	12	14	6	9	1	3	1	3	0	0	1	3	2	3	1	1	0	3	3	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23915088C>T	ENST00000382298.3	-	10	3515	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	SACS_ENST00000382292.3_Missense_Mutation_p.R976H|SACS_ENST00000402364.1_Missense_Mutation_p.R226H	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	976					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		GTTTGCCAGACGAATAGTAGC	0.348													T	23915088	C	T	23915088	3	4	364	1	0	0	0	0	1	0	0	0	13895	536	19	1	10816	1	SACS	13	23915088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	23915088	91254790	10126	33628											
SACS	26278	broad.mit.edu	37	chr13	23929924	23929924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagttgtgaaggttgtaggCgaagagggaaacggaaaaat	16	8	15	2	2	0	2	0	1	0	1	0	5	0	4	0	4	1	3	0	4	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:23929924C>T	ENST00000382298.3	-	8	1415	c.827G>A	c.(826-828)cGc>cAc	p.R276H	SACS_ENST00000382292.3_Missense_Mutation_p.R276H|SACS_ENST00000402364.1_5'UTR	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	276					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	p.R129H(2)|p.R276H(1)		NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AGGTTGTAGGCGAAGAGGGAA	0.413													T	23929924	C	T	23929924	3	4	364	1	0	0	0	0	1	0	0	0	13895	768	27	1	12924	1	SACS	13	23929924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14836	23929924	91239954	10127	33629											
SPATA13	221178	broad.mit.edu	37	chr13	24860369	24860369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgatcagtgatggcaaCgtggtctgcgcagaagccct	9	8	13	11	2	2	3	1	2	1	1	2	3	2	3	1	2	4	3	1	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:24860369C>T	ENST00000424834.2	+	8	2792	c.2319C>T	c.(2317-2319)aaC>aaT	p.N773N	SPATA13_ENST00000409126.1_Silent_p.N70N|SPATA13_ENST00000399949.2_Silent_p.N70N|SPATA13_ENST00000382108.3_Silent_p.N773N|SPATA13_ENST00000343003.6_Silent_p.N92N|RP11-307N16.6_ENST00000382141.4_Silent_p.N651N|SPATA13_ENST00000382095.4_Silent_p.N148N			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	148					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		GTGATGGCAACGTGGTCTGCG	0.587													T	24860369	C	T	24860369	2	4	364	1	0	0	0	0	0	0	0	1	15096	535	19	1		1	SPATA13	13	24860369	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	930445	24860369	90309509	10128	33630											
PARP4	143	broad.mit.edu	37	chr13	25009094	25009094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaacaatgccacaataGggtgaagaaggtgggttctg	16	7	13	5	0	1	2	0	1	1	1	1	3	1	2	1	3	2	1	1	3	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25009094G>A	ENST00000381989.3	-	31	4290	c.4185C>T	c.(4183-4185)ccC>ccT	p.P1395P		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	1395					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		TGCCACAATAGGGTGAAGAAG	0.552													A	25009094	G	A	25009094	2	1	364	1	0	0	0	0	0	0	0	1	11539	987	35	2		2	PARP4	13	25009094	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148725	25009094	90160784	10129	33631											
PARP4	143	broad.mit.edu	37	chr13	25029234	25029234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcgatttgcttggcttgCaagaatgtcacaccctccat	10	11	9	11	1	1	1	1	0	0	1	2	2	2	1	2	2	2	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25029234C>T	ENST00000381989.3	-	22	2784	c.2679G>A	c.(2677-2679)ttG>ttA	p.L893L		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	893	VWFA.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GCTTGGCTTGCAAGAATGTCA	0.517													T	25029234	C	T	25029234	2	4	364	1	0	0	0	0	0	0	0	1	11539	709	25	2		2	PARP4	13	25029234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20140	25029234	90140644	10130	33632											
PARP4	143	broad.mit.edu	37	chr13	25051995	25051995	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atagacaacaaattcatcatCctagagcaaacagaaatcag	20	7	5	9	0	3	3	3	0	0	3	4	3	4	3	1	0	3	1	1	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25051995C>T	ENST00000381989.3	-	14	1738	c.1633G>A	c.(1633-1635)Gat>Aat	p.D545N		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	545	PARP catalytic.				cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		AATTCATCATCCTAGAGCAAA	0.308													T	25051995	C	T	25051995	5	4	364	1	0	0	0	0	0	0	1	0	11539	869	30	2	3625	2	PARP4	13	25051995	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22761	25051995	90117883	10131	33633											
PARP4	143	broad.mit.edu	37	chr13	25075813	25075813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtggtgtgatgtccaGgggcttataaggatcataat	11	11	15	4	0	1	1	1	1	0	0	2	3	2	3	1	6	0	1	1	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25075813G>T	ENST00000381989.3	-	3	397	c.292C>A	c.(292-294)Ctg>Atg	p.L98M		NM_006437.3	NP_006428.2	Q9UKK3	PARP4_HUMAN	poly (ADP-ribose) polymerase family, member 4	98					cell death|DNA repair|inflammatory response|protein ADP-ribosylation|response to drug|transport	cytoplasm|nucleus|ribonucleoprotein complex|spindle microtubule	DNA binding|enzyme binding|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(18)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63		all_epithelial(30;7.67e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.000127)|Epithelial(112;0.000778)|Kidney(163;0.039)|OV - Ovarian serous cystadenocarcinoma(117;0.0578)|KIRC - Kidney renal clear cell carcinoma(186;0.135)|Lung(94;0.195)		GTGATGTCCAGGGGCTTATAA	0.418													T	25075813	G	T	25075813	3	4	364	1	0	0	0	0	1	0	0	0	11539	991	35	4	5010	4	PARP4	13	25075813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23818	25075813	90094065	10132	33634											
ATP12A	479	broad.mit.edu	37	chr13	25276209	25276209	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagcaagttaacaaacGgtaagcacaggagcagcata	16	6	12	7	1	0	0	0	0	0	0	0	2	0	2	0	3	6	6	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25276209G>A	ENST00000218548.6	+	14	2369	c.2036G>A	c.(2035-2037)cGg>cAg	p.R679Q	ATP12A_ENST00000381946.3_Splice_Site_p.R673Q	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	673					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	GTTAACAAACGGTAAGCACAG	0.458													A	25276209	G	A	25276209	5	1	364	1	0	0	0	0	0	0	1	0	1127	1130	39	1	2090	1	ATP12A	13	25276209	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	200396	25276209	89893669	10133	33635											
ATP12A	479	broad.mit.edu	37	chr13	25280490	25280490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgactggcatggagctgaaGgacatgagctcagaacagct	12	7	14	8	0	1	4	1	3	0	1	1	6	1	6	0	3	4	4	0	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25280490G>T	ENST00000218548.6	+	15	2409	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	ATP12A_ENST00000381946.3_Missense_Mutation_p.K686N	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	686					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TGGAGCTGAAGGACATGAGCT	0.542													T	25280490	G	T	25280490	3	4	364	1	0	0	0	0	1	0	0	0	1127	991	35	4	2134	4	ATP12A	13	25280490	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4281	25280490	89889388	10134	33636											
RNF17	56163	broad.mit.edu	37	chr13	25444764	25444764	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtctaaccagcatagtgAcacagatgatagtggagtca	14	8	10	9	0	2	3	1	2	1	1	2	4	2	4	2	1	2	1	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25444764A>G	ENST00000255324.5	+	32	4386	c.4334A>G	c.(4333-4335)gAc>gGc	p.D1445G	RNF17_ENST00000381921.1_Missense_Mutation_p.D1403G|RNF17_ENST00000339524.3_Missense_Mutation_p.D455G	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1445					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		CAGCATAGTGACACAGATGAT	0.448													G	25444764	A	G	25444764	3	3	364	1	0	0	0	0	1	0	0	0	13552	275	10	3	4460	3	RNF17	13	25444764	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	164274	25444764	89725114	10135	33637											
CENPJ	55835	broad.mit.edu	37	chr13	25457323	25457323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatgaggatcgtcacagctCcgtgtccattagcacattac	11	10	8	12	2	1	1	1	1	0	0	4	2	3	2	2	1	3	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25457323C>T	ENST00000381884.4	-	17	4194	c.4009G>A	c.(4009-4011)Gag>Aag	p.E1337K	CENPJ_ENST00000545981.1_3'UTR	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	1337					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CGTCACAGCTCCGTGTCCATT	0.378													T	25457323	C	T	25457323	3	4	364	1	0	0	0	0	1	0	0	0	3264	864	30	2	11	2	CENPJ	13	25457323	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12559	25457323	89712555	10136	33638											
CENPJ	55835	broad.mit.edu	37	chr13	25480611	25480611	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagaggaagtctgtctttaCcttgtgtcttattccaccct	9	15	7	10	0	3	1	0	0	3	1	4	2	4	2	3	1	1	0	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480611C>A	ENST00000381884.4	-	7	1750	c.1565G>T	c.(1564-1566)gGt>gTt	p.G522V	CENPJ_ENST00000545981.1_Missense_Mutation_p.G522V	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	522					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGTCTTTACCTTGTGTCTT	0.443													A	25480611	C	A	25480611	3	1	364	1	0	0	0	0	1	0	0	0	3264	507	18	4	2495	4	CENPJ	13	25480611	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23288	25480611	89689267	10137	33639											
CENPJ	55835	broad.mit.edu	37	chr13	25480710	25480710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttgttttcaaatttgAtctggtctctaaactgccca	9	17	6	9	0	3	2	1	2	2	0	4	2	3	2	1	1	2	1	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25480710A>G	ENST00000381884.4	-	7	1651	c.1466T>C	c.(1465-1467)aTc>aCc	p.I489T	CENPJ_ENST00000545981.1_Missense_Mutation_p.I489T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	489					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTCAAATTTGATCTGGTCTCT	0.398													G	25480710	A	G	25480710	3	3	364	1	0	0	0	0	1	0	0	0	3264	333	12	3	2594	3	CENPJ	13	25480710	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	99	25480710	89689168	10138	33640											
CENPJ	55835	broad.mit.edu	37	chr13	25487072	25487072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaataggaaatccacgatttAatatgaccccagcccgagaa	17	7	7	10	2	0	2	0	1	0	1	1	5	1	3	4	1	1	0	4	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25487072A>G	ENST00000381884.4	-	2	277	c.92T>C	c.(91-93)tTa>tCa	p.L31S	CENPJ_ENST00000545981.1_Missense_Mutation_p.L31S	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	31					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCCACGATTTAATATGACCCC	0.448													G	25487072	A	G	25487072	3	3	364	1	0	0	0	0	1	0	0	0	3264	372	13	3	3988	3	CENPJ	13	25487072	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6362	25487072	89682806	10139	33641											
PABPC3	5042	broad.mit.edu	37	chr13	25671892	25671892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcaatcctcagcaacatcGtaatgcacagccacaagtta	14	8	6	13	2	1	0	1	0	0	0	4	0	2	0	2	0	4	5	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:25671892G>A	ENST00000281589.3	+	1	1593	c.1556G>A	c.(1555-1557)cGt>cAt	p.R519H		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	519					mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		CAGCAACATCGTAATGCACAG	0.537													A	25671892	G	A	25671892	3	1	364	1	0	0	0	0	1	0	0	0	11441	1145	40	1	1558	1	PABPC3	13	25671892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184820	25671892	89497986	10140	33642											
ATP8A2	51761	broad.mit.edu	37	chr13	26043137	26043137	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgttcgttcttctttgggCtataagaaggcagaggatga	9	13	12	7	1	2	3	0	1	2	2	3	4	2	4	1	3	0	4	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26043137C>T	ENST00000381655.2	+	2	241	c.99C>T	c.(97-99)ggC>ggT	p.G33G	ATP8A2_ENST00000255283.8_5'UTR	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	0					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTTCTTTGGGCTATAAGAAGG	0.602													T	26043137	C	T	26043137	2	4	364	1	0	0	0	0	0	0	0	1	1198	784	28	2		2	ATP8A2	13	26043137	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371245	26043137	89126741	10141	33643											
ATP8A2	51761	broad.mit.edu	37	chr13	26112196	26112196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agatgtggtcctgctgtcatCcaggttagctgtgctagtag	7	13	13	8	0	1	1	1	0	0	1	3	1	3	1	2	2	3	5	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26112196C>T	ENST00000381655.2	+	7	720	c.578C>T	c.(577-579)tCc>tTc	p.S193F	ATP8A2_ENST00000255283.8_Missense_Mutation_p.S153F	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	153					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CTGCTGTCATCCAGGTTAGCT	0.493													T	26112196	C	T	26112196	3	4	364	1	0	0	0	0	1	0	0	0	1198	855	30	2	604	2	ATP8A2	13	26112196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69059	26112196	89057682	10142	33644											
RNF6	6049	broad.mit.edu	37	chr13	26788928	26788928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaattagagaatggggtaTatgcagtacctctgcgttct	10	14	11	6	1	2	2	0	1	2	1	2	3	2	2	1	2	3	4	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26788928T>C	ENST00000381588.4	-	5	1843	c.1091A>G	c.(1090-1092)tAt>tGt	p.Y364C	RNF6_ENST00000399762.2_Intron|RNF6_ENST00000468480.1_Intron|RNF6_ENST00000346166.3_Missense_Mutation_p.Y364C|RNF6_ENST00000381570.3_Missense_Mutation_p.Y364C	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	364	Arg-rich.				negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		GAATGGGGTATATGCAGTACC	0.438													C	26788928	T	C	26788928	3	2	364	1	0	0	0	0	1	0	0	0	13589	1406	49	3	970	3	RNF6	13	26788928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	676732	26788928	88380950	10143	33645											
RNF6	6049	broad.mit.edu	37	chr13	26792679	26792679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccatctctcaagtcaggCtgagatgctagttgttcctt	7	15	9	10	0	3	1	2	1	1	1	6	2	5	1	2	1	1	5	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:26792679C>A	ENST00000381588.4	-	4	1010	c.258G>T	c.(256-258)caG>caT	p.Q86H	RNF6_ENST00000399762.2_5'UTR|RNF6_ENST00000468480.1_5'UTR|RNF6_ENST00000346166.3_Missense_Mutation_p.Q86H|RNF6_ENST00000381570.3_Missense_Mutation_p.Q86H	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	86					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		TCAAGTCAGGCTGAGATGCTA	0.408													A	26792679	C	A	26792679	3	1	364	1	0	0	0	0	1	0	0	0	13589	796	28	4	1807	4	RNF6	13	26792679	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3751	26792679	88377199	10144	33646											
WASF3	10810	broad.mit.edu	37	chr13	27250735	27250735	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggtgaaaaaggttagaaAagccagaaacaggcgccagg	17	4	14	6	1	0	4	0	2	0	2	0	4	0	4	2	4	2	1	2	4	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27250735A>C	ENST00000335327.5	+	7	768	c.590A>C	c.(589-591)aAa>aCa	p.K197T	WASF3_ENST00000496788.1_3'UTR|WASF3_ENST00000361042.4_Intron	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	197					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		AAGGTTAGAAAAGCCAGAAAC	0.488													C	27250735	A	C	27250735	3	2	364	1	0	0	0	0	1	0	0	0	17356	14	1	5	608	5	WASF3	13	27250735	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	458056	27250735	87919143	10145	33647											
USP12	219333	broad.mit.edu	37	chr13	27649407	27649407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgaagtgttaaacagacGaagttctaaaggaaaaacta	19	8	8	6	1	1	2	0	1	1	1	1	4	1	3	1	1	2	2	1	1	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:27649407G>A	ENST00000282344.6	-	7	1109	c.853C>T	c.(853-855)Cgt>Tgt	p.R285C		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	285					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TTAAACAGACGAAGTTCTAAA	0.423													A	27649407	G	A	27649407	3	1	364	1	0	0	0	0	1	0	0	0	17145	1058	37	1	271	1	USP12	13	27649407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	398672	27649407	87520471	10146	33648											
MTIF3	219402	broad.mit.edu	37	chr13	28009965	28009965	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttcctccttgaacagcTtgtggcctagatgagaatgt	8	14	10	9	0	0	3	0	2	0	2	2	4	2	3	3	1	2	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28009965T>C	ENST00000381116.1	-	7	918	c.684A>G	c.(682-684)caA>caG	p.Q228Q	MTIF3_ENST00000431572.2_Silent_p.Q228Q|MTIF3_ENST00000405591.2_Silent_p.Q228Q|MTIF3_ENST00000461838.1_5'UTR|MTIF3_ENST00000381120.3_Silent_p.Q228Q			Q9H2K0	IF3M_HUMAN	mitochondrial translational initiation factor 3	228					regulation of translational initiation|ribosome disassembly	mitochondrion	ribosomal small subunit binding|translation initiation factor activity			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	7		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.108)|OV - Ovarian serous cystadenocarcinoma(117;0.157)		CTTGAACAGCTTGTGGCCTAG	0.383													C	28009965	T	C	28009965	2	2	364	1	0	0	0	0	0	0	0	1	10011	1606	56	3		3	MTIF3	13	28009965	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	360558	28009965	87159913	10147	33649											
LNX2	222484	broad.mit.edu	37	chr13	28127484	28127484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgctttaagggcaacagCaggggacgcggcactggctt	10	7	15	9	2	0	0	0	0	0	0	0	1	0	1	0	5	3	5	0	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28127484C>T	ENST00000316334.3	-	8	1768	c.1639G>A	c.(1639-1641)Gct>Act	p.A547T		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	547	PDZ 3.						zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		AGGGCAACAGCAGGGGACGCG	0.498													T	28127484	C	T	28127484	3	4	364	1	0	0	0	0	1	0	0	0	8927	710	25	2	445	2	LNX2	13	28127484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117519	28127484	87042394	10148	33650											
LNX2	222484	broad.mit.edu	37	chr13	28136762	28136762	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatgaagagccacttggaAaatctcttctcgtggagagt	11	13	10	7	1	2	3	0	1	2	2	4	5	2	4	1	2	1	0	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28136762A>G	ENST00000316334.3	-	5	1141	c.1012T>C	c.(1012-1014)Ttc>Ctc	p.F338L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	338							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		GCCACTTGGAAAATCTCTTCT	0.488													G	28136762	A	G	28136762	3	3	364	1	0	0	0	0	1	0	0	0	8927	14	1	3	1084	3	LNX2	13	28136762	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9278	28136762	87033116	10149	33651											
CDX2	1045	broad.mit.edu	37	chr13	28537431	28537431	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggctgtggtggctgctGctgctgttgctgctgcaact	3	12	16	10	1	0	0	0	0	0	0	0	0	0	0	0	4	7	9	0	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28537431G>A	ENST00000381020.7	-	3	2895	c.763C>T	c.(763-765)Cag>Tag	p.Q255*	CDX2_ENST00000548877.1_5'UTR	NM_001265.4	NP_001256.3	Q99626	CDX2_HUMAN	caudal type homeobox 2	255	Poly-Gln.				organ morphogenesis|transcription from RNA polymerase II promoter		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(1)|lung(6)	9	all_cancers(110;0.191)|all_hematologic(3;0.0447)|Acute lymphoblastic leukemia(6;0.155)	Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0407)|all cancers(112;0.0491)|OV - Ovarian serous cystadenocarcinoma(117;0.199)		GGTGgctgctgctgctgttgc	0.552			T	ETV6	AML								A	28537431	G	A	28537431	4	1	364	1	0	0	0	0	0	1	0	0	3213	1328	46	2	182	2	CDX2	13	28537431	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	400669	28537431	86632447	10150	33652											
FLT3	2322	broad.mit.edu	37	chr13	28592603	28592603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaggaaatagcagcctcaCattgcccctgacaacatagt	14	8	8	11	0	1	1	1	1	0	0	1	2	1	2	3	1	4	2	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28592603C>T	ENST00000380982.4	-	20	2623	c.2542G>A	c.(2542-2544)Gtg>Atg	p.V848M	FLT3_ENST00000537084.1_Intron|FLT3_ENST00000241453.7_Splice_Site			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	847	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGCAGCCTCACATTGCCCCTG	0.423			"Mis, O"		"AML, ALL"								T	28592603	C	T	28592603	3	4	364	1	0	0	0	0	1	0	0	0	5991	492	17	2	459	2	FLT3	13	28592603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55172	28592603	86577275	10151	33653											
FLT3	2322	broad.mit.edu	37	chr13	28608053	28608053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgacggcaacctggattGagactcctgttttgctaatt	8	16	9	8	1	0	2	0	2	0	1	1	4	1	3	2	2	2	3	2	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28608053G>A	ENST00000380982.4	-	15	1994	c.1913C>T	c.(1912-1914)tCa>tTa	p.S638L	FLT3_ENST00000537084.1_Missense_Mutation_p.S638L|FLT3_ENST00000241453.7_Missense_Mutation_p.S638L			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	638	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AACCTGGATTGAGACTCCTGT	0.453			"Mis, O"		"AML, ALL"								A	28608053	G	A	28608053	3	1	364	1	0	0	0	0	1	0	0	0	5991	1294	45	2	1108	2	FLT3	13	28608053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15450	28608053	86561825	10152	33654											
FLT1	2321	broad.mit.edu	37	chr13	28877367	28877367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggggcggggagcagcacgcGattttcctttccagctcagc	6	8	15	12	3	1	0	1	0	0	0	3	2	3	1	2	4	4	3	2	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28877367G>A	ENST00000282397.4	-	30	4205	c.3954C>T	c.(3952-3954)atC>atT	p.I1318I	FLT1_ENST00000540678.1_Silent_p.I536I|FLT1_ENST00000543394.1_Silent_p.I341I	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1318					cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	AGCAGCACGCGATTTTCCTTT	0.567													A	28877367	G	A	28877367	2	1	364	1	0	0	0	0	0	0	0	1	5990	1048	37	1		1	FLT1	13	28877367	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269314	28877367	86292511	10153	33655											
FLT1	2321	broad.mit.edu	37	chr13	28908200	28908200	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtccggcacgtaggtGatttcttaatgccaaatgct	10	11	9	11	2	1	1	0	1	1	0	2	1	2	1	3	2	2	3	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28908200G>T	ENST00000282397.4	-	18	2806	c.2555C>A	c.(2554-2556)tCa>tAa	p.S852*	FLT1_ENST00000540678.1_Nonsense_Mutation_p.S70*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	852	Protein kinase.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCACGTAGGTGATTTCTTAAT	0.433													T	28908200	G	T	28908200	4	4	364	1	0	0	0	0	0	1	0	0	5990	1294	45	4	1513	4	FLT1	13	28908200	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30833	28908200	86261678	10154	33656											
FLT1	2321	broad.mit.edu	37	chr13	28964134	28964134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaactgtccgcagtaaaaTccaagtaacgtctctgtata	14	12	6	9	2	1	0	0	0	1	0	4	0	3	0	2	0	2	4	2	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:28964134T>A	ENST00000282397.4	-	13	2019	c.1768A>T	c.(1768-1770)Att>Ttt	p.I590F	FLT1_ENST00000541932.1_Missense_Mutation_p.I590F	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	590	Ig-like C2-type 6.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	CGCAGTAAAATCCAAGTAACG	0.393													A	28964134	T	A	28964134	3	1	364	1	0	0	0	0	1	0	0	0	5990	1435	50	5	2505	5	FLT1	13	28964134	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55934	28964134	86205744	10155	33657											
POMP	51371	broad.mit.edu	37	chr13	29242705	29242705	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatggaattcaaggcagtGcagcaggtgagttgatggat	12	9	15	5	0	1	3	1	2	0	1	1	5	1	5	0	4	2	4	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29242705G>T	ENST00000380842.4	+	4	339	c.258G>T	c.(256-258)gtG>gtT	p.V86V	POMP_ENST00000460403.1_3'UTR	NM_015932.5	NP_057016.1	Q9Y244	POMP_HUMAN	proteasome maturation protein	86					proteasome assembly	cytosol|endoplasmic reticulum|membrane|microsome|nucleus|proteasome complex				endometrium(2)|kidney(1)|large_intestine(1)	4		Lung SC(185;0.0367)		all cancers(112;0.141)|OV - Ovarian serous cystadenocarcinoma(117;0.216)		TCAAGGCAGTGCAGCAGGTGA	0.378													T	29242705	G	T	29242705	2	4	364	1	0	0	0	0	0	0	0	1	12321	1306	46	4		4	POMP	13	29242705	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	278571	29242705	85927173	10156	33658											
MTUS2	23281	broad.mit.edu	37	chr13	29608054	29608054	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggaaaagaagagttttgTtctcctccctatgctcatta	10	14	7	10	0	2	2	1	0	1	2	4	3	3	3	3	1	1	3	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29608054T>A	ENST00000431530.3	+	2	2326	c.2268T>A	c.(2266-2268)tgT>tgA	p.C756*		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	746	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						AAGAGTTTTGTTCTCCTCCCT	0.443													A	29608054	T	A	29608054	4	1	364	1	0	0	0	0	0	1	0	0	10042	1731	60	5	2274	5	MTUS2	13	29608054	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	365349	29608054	85561824	10157	33659											
MTUS2	23281	broad.mit.edu	37	chr13	29933491	29933491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcggcagctggtgctgCggctgaaggagcggtgtgag	6	7	20	8	3	0	3	0	3	0	0	0	4	0	4	0	5	5	4	0	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:29933491C>T	ENST00000431530.3	+	6	3086	c.3028C>T	c.(3028-3030)Cgg>Tgg	p.R1010W		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	1000	Localization to the growing distal tip of microtubules.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GCTGGTGCTGCGGCTGAAGGA	0.657													T	29933491	C	T	29933491	3	4	364	1	0	0	0	0	1	0	0	0	10042	759	27	1	3050	1	MTUS2	13	29933491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	325437	29933491	85236387	10158	33660											
SLC7A1	6541	broad.mit.edu	37	chr13	30097549	30097549	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggcagccgacaccccaaaGtaggcgatgaagcagatcaa	15	3	12	11	2	1	2	1	1	0	1	1	4	1	2	3	2	2	3	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30097549G>A	ENST00000380752.5	-	7	1289	c.903C>T	c.(901-903)taC>taT	p.Y301Y		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	301					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	ACACCCCAAAGTAGGCGATGA	0.597													A	30097549	G	A	30097549	2	1	364	1	0	0	0	0	0	0	0	1	14786	1024	36	2		2	SLC7A1	13	30097549	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164058	30097549	85072329	10159	33661											
SLC7A1	6541	broad.mit.edu	37	chr13	30110258	30110258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacagccgcgtctcctccCggctacagtccaccaccttc	7	7	8	19	3	1	1	0	0	1	1	5	2	3	1	6	1	2	1	6	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30110258C>T	ENST00000380752.5	-	3	454	c.68G>A	c.(67-69)cGg>cAg	p.R23Q		NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	23				R -> P (in Ref. 2; CAA40560).	cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CGTCTCCTCCCGGCTACAGTC	0.587													T	30110258	C	T	30110258	3	4	364	1	0	0	0	0	1	0	0	0	14786	652	23	1	1865	1	SLC7A1	13	30110258	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12709	30110258	85059620	10160	33662											
KATNAL1	84056	broad.mit.edu	37	chr13	30829592	30829592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatcttgccttgtcatCtctccctcttgctctatagt	6	16	5	14	0	5	0	1	0	4	0	7	0	6	0	2	0	3	2	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:30829592C>A	ENST00000380615.3	-	4	651	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	KATNAL1_ENST00000380617.3_Missense_Mutation_p.D162Y	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	162						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		GCCTTGTCATCTCTCCCTCTT	0.463													A	30829592	C	A	30829592	3	1	364	1	0	0	0	0	1	0	0	0	8043	913	32	4	1020	4	KATNAL1	13	30829592	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	719334	30829592	84340286	10161	33663											
ALOX5AP	241	broad.mit.edu	37	chr13	31309770	31309770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaactgtaggcaatgttGtcctgttggccatcgtcacc	10	11	10	10	1	1	1	1	0	0	1	3	1	2	1	3	2	1	4	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31309770G>A	ENST00000380490.3	+	1	126	c.28G>A	c.(28-30)Gtc>Atc	p.V10I		NM_001204406.1|NM_001629.3	NP_001191335.1|NP_001620.2	P20292	AL5AP_HUMAN	arachidonate 5-lipoxygenase-activating protein	10					cellular response to calcium ion|leukotriene biosynthetic process|leukotriene production involved in inflammatory response|protein homotrimerization	endoplasmic reticulum membrane|integral to membrane|microsome|nuclear membrane	arachidonic acid binding|protein N-terminus binding			endometrium(1)|large_intestine(1)|ovary(1)|prostate(1)	4		Lung SC(185;0.0257)|Breast(139;0.203)		all cancers(112;0.0187)|Epithelial(112;0.0803)|OV - Ovarian serous cystadenocarcinoma(117;0.0864)		AGGCAATGTTGTCCTGTTGGC	0.522													A	31309770	G	A	31309770	3	1	364	1	0	0	0	0	1	0	0	0	541	1377	48	2	30	2	ALOX5AP	13	31309770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480178	31309770	83860108	10162	33664											
HSPH1	10808	broad.mit.edu	37	chr13	31725128	31725128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatcattcataaagcattcGatattcagtggaaggtctgt	12	15	8	6	1	4	0	3	0	1	0	5	2	4	1	0	2	1	1	0	2	5	6	rs144091980		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31725128G>A	ENST00000320027.5	-	7	1208	c.864C>T	c.(862-864)atC>atT	p.I288I	HSPH1_ENST00000429785.2_Silent_p.I107I|HSPH1_ENST00000445273.2_Silent_p.I290I|HSPH1_ENST00000380406.5_Silent_p.I247I|HSPH1_ENST00000380405.4_Silent_p.I288I	NM_006644.2	NP_006635.2	Q92598	HS105_HUMAN	heat shock 105kDa/110kDa protein 1	288					positive regulation of MHC class I biosynthetic process|positive regulation of NK T cell activation|response to unfolded protein	cytoplasm|extracellular region	ATP binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27		Lung SC(185;0.0257)		all cancers(112;0.00385)|Epithelial(112;0.0328)|OV - Ovarian serous cystadenocarcinoma(117;0.0375)|GBM - Glioblastoma multiforme(144;0.125)		TAAAGCATTCGATATTCAGTG	0.373													A	31725128	G	A	31725128	2	1	364	1	0	0	0	0	0	0	0	1	7489	1048	37	1		1	HSPH1	13	31725128	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	415358	31725128	83444750	10163	33665											
B3GALTL	145173	broad.mit.edu	37	chr13	31797128	31797128	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatcaaggaaaaatgacataGgtaagtaatgatttttttta	17	15	7	2	0	1	2	1	2	0	0	1	3	1	3	0	2	0	2	0	2	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:31797128G>T	ENST00000343307.4	+	3	309	c.160G>T	c.(160-162)Gac>Tac	p.D54Y		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	54					fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		AAATGACATAGGTAAGTAATG	0.289													T	31797128	G	T	31797128	5	4	364	1	0	0	0	0	0	0	1	0	1257	1014	35	4	170	4	B3GALTL	13	31797128	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72000	31797128	83372750	10164	33666											
RXFP2	122042	broad.mit.edu	37	chr13	32348793	32348793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcattagacacatatccagGaaagcattttttggattatg	13	14	8	6	0	0	1	0	0	0	1	1	3	1	3	1	2	2	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32348793G>T	ENST00000298386.2	+	6	605	c.534G>T	c.(532-534)agG>agT	p.R178S	RXFP2_ENST00000380314.1_Missense_Mutation_p.R178S	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	178						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		ACATATCCAGGAAAGCATTTT	0.318													T	32348793	G	T	32348793	3	4	364	1	0	0	0	0	1	0	0	0	13851	1165	41	4	556	4	RXFP2	13	32348793	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551665	32348793	82821085	10165	33667											
FRY	10129	broad.mit.edu	37	chr13	32691602	32691602	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaccaagaacaagcaataaAtcaaaaaggtacatttcttt	20	9	5	7	0	2	2	1	0	1	2	2	2	2	2	1	1	3	2	1	1	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32691602A>C	ENST00000380250.3	+	4	952	c.456A>C	c.(454-456)aaA>aaC	p.K152N		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CAAGCAATAAATCAAAAAGGT	0.333													C	32691602	A	C	32691602	3	2	364	1	0	0	0	0	1	0	0	0	6115	98	4	5	470	5	FRY	13	32691602	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	342809	32691602	82478276	10166	33668											
FRY	10129	broad.mit.edu	37	chr13	32698752	32698752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagattccacttcatcCtgtaatagacagtttaatac	12	16	4	9	0	2	2	2	0	0	2	4	2	4	2	2	0	1	2	2	0	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32698752C>A	ENST00000380250.3	+	6	1065	c.569C>A	c.(568-570)cCt>cAt	p.P190H		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CCACTTCATCCTGTAATAGAC	0.313													A	32698752	C	A	32698752	3	1	364	1	0	0	0	0	1	0	0	0	6115	681	24	4	591	4	FRY	13	32698752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7150	32698752	82471126	10167	33669											
FRY	10129	broad.mit.edu	37	chr13	32808887	32808887	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgataggagaacatggaGatgagattcaggtatggaag	15	8	16	2	0	1	4	1	2	0	3	1	8	1	5	0	5	1	1	0	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32808887G>T	ENST00000380250.3	+	42	6200	c.5704G>T	c.(5704-5706)Gat>Tat	p.D1902Y		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1902					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AGAACATGGAGATGAGATTCA	0.473													T	32808887	G	T	32808887	3	4	364	1	0	0	0	0	1	0	0	0	6115	942	33	4	5870	4	FRY	13	32808887	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110135	32808887	82360991	10168	33670											
FRY	10129	broad.mit.edu	37	chr13	32826033	32826033	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaagagaacaaaagagaagTtggtacatgtcctttctctg	15	10	10	6	0	1	3	0	0	1	3	3	5	2	3	1	1	2	2	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32826033T>C	ENST00000380250.3	+	50	7685	c.7189T>C	c.(7189-7191)Ttg>Ctg	p.L2397L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2397					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		AAAAGAGAAGTTGGTACATGT	0.403													C	32826033	T	C	32826033	2	2	364	1	0	0	0	0	0	0	0	1	6115	1722	60	3		3	FRY	13	32826033	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17146	32826033	82343845	10169	33671											
BRCA2	675	broad.mit.edu	37	chr13	32906451	32906451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatttaaagtaaatagctGcaaagaccacattggaaagt	17	11	7	6	0	1	1	1	0	0	1	1	2	1	2	1	1	2	3	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32906451G>A	ENST00000544455.1	+	10	1063	c.836G>A	c.(835-837)tGc>tAc	p.C279Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.C279Y	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	279					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GTAAATAGCTGCAAAGACCAC	0.284			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32906451	G	A	32906451	3	1	364	1	0	0	0	0	1	0	0	0	1508	1319	46	2	870	2	BRCA2	13	32906451	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80418	32906451	82263427	10170	33672											
BRCA2	675	broad.mit.edu	37	chr13	32912286	32912286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtttatcttcaagtaaatGtcatgattctgttgtttcaa	12	18	6	5	0	5	1	3	1	2	0	5	1	5	1	0	0	0	4	0	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912286G>A	ENST00000544455.1	+	11	4021	c.3794G>A	c.(3793-3795)tGt>tAt	p.C1265Y	BRCA2_ENST00000380152.3_Missense_Mutation_p.C1265Y	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1265					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TCAAGTAAATGTCATGATTCT	0.279			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32912286	G	A	32912286	3	1	364	1	0	0	0	0	1	0	0	0	1508	1377	48	2	3832	2	BRCA2	13	32912286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5835	32912286	82257592	10171	33673											
BRCA2	675	broad.mit.edu	37	chr13	32912948	32912948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatgaggaaacagacataGttaaacacaaaatactgaaa	21	8	7	5	0	0	3	0	2	0	1	0	4	0	4	0	1	3	2	0	1	9	4	rs80359450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:32912948G>A	ENST00000544455.1	+	11	4683	c.4456G>A	c.(4456-4458)Gtt>Att	p.V1486I	BRCA2_ENST00000380152.3_Missense_Mutation_p.V1486I	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1486					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		AACAGACATAGTTAAACACAA	0.358			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32912948	G	A	32912948	3	1	364	1	0	0	0	0	1	0	0	0	1508	1029	36	2	4494	2	BRCA2	13	32912948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	662	32912948	82256930	10172	33674											
PDS5B	23047	broad.mit.edu	37	chr13	33262607	33262607	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagactacttgttgaacGgatctttgctcaatacatgg	10	15	9	7	1	2	2	1	1	1	1	2	3	2	3	0	2	4	3	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33262607G>A	ENST00000315596.10	+	13	1556	c.1370G>A	c.(1369-1371)cGg>cAg	p.R457Q		NM_015032.3	NP_055847.1	Q9NTI5	PDS5B_HUMAN	PDS5, regulator of cohesion maintenance, homolog B (S. cerevisiae)	457					cell division|cell proliferation|mitotic sister chromatid cohesion|negative regulation of cell proliferation	chromatin|nucleus	ATP binding|DNA binding|identical protein binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|lung(14)|ovary(5)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	62		Lung SC(185;0.0367)		all cancers(112;5.55e-06)|Epithelial(112;2.7e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00303)|BRCA - Breast invasive adenocarcinoma(63;0.0204)		CTTGTTGAACGGATCTTTGCT	0.313													A	33262607	G	A	33262607	3	1	364	1	0	0	0	0	1	0	0	0	11768	1116	39	1	1416	1	PDS5B	13	33262607	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	349659	33262607	81907271	10173	33675											
KL	9365	broad.mit.edu	37	chr13	33634963	33634963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccatccagccccagatcGctttactccaggaaatgcac	10	8	7	16	1	0	1	0	0	0	1	3	2	2	2	5	1	4	2	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33634963G>A	ENST00000380099.3	+	4	1755	c.1747G>A	c.(1747-1749)Gct>Act	p.A583T	KL_ENST00000426690.2_3'UTR|KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	583	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GCCCCAGATCGCTTTACTCCA	0.507													A	33634963	G	A	33634963	3	1	364	1	0	0	0	0	1	0	0	0	8389	1087	38	1	1761	1	KL	13	33634963	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372356	33634963	81534915	10174	33676											
STARD13	90627	broad.mit.edu	37	chr13	33684069	33684069	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcagcacatactggtaGatctctgtttgcctgtctag	7	15	9	10	0	3	1	1	0	2	1	4	1	3	1	1	1	3	4	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33684069G>T	ENST00000336934.5	-	12	3104	c.2988C>A	c.(2986-2988)atC>atA	p.I996I	STARD13_ENST00000255486.4_Silent_p.I988I|STARD13_ENST00000399365.3_Silent_p.I878I	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	996	START.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		CATACTGGTAGATCTCTGTTT	0.527											OREG0022359	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	33684069	G	T	33684069	2	4	364	1	0	0	0	0	0	0	0	1	15352	932	33	4		4	STARD13	13	33684069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49106	33684069	81485809	10175	33677											
STARD13	90627	broad.mit.edu	37	chr13	33703428	33703428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatacagatgggagccaggGacattgtcatagatactgac	13	8	12	8	0	1	3	1	1	0	2	1	5	1	5	1	2	3	1	1	2	3	4	rs35350154		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:33703428G>A	ENST00000336934.5	-	5	1502	c.1386C>T	c.(1384-1386)gtC>gtT	p.V462V	STARD13_ENST00000255486.4_Silent_p.V454V|STARD13_ENST00000399365.3_Silent_p.V344V	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	462					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|lipid particle|mitochondrial membrane	GTPase activator activity|protein binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GGGAGCCAGGGACATTGTCAT	0.562													A	33703428	G	A	33703428	2	1	364	1	0	0	0	0	0	0	0	1	15352	1161	41	2		2	STARD13	13	33703428	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19359	33703428	81466450	10176	33678											
MAB21L1	4081	broad.mit.edu	37	chr13	36050146	36050146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggctcctgcacttccacttCcttcagtacgtcggaaacta	8	11	7	15	3	1	0	1	0	0	0	5	1	4	1	3	2	3	3	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36050146C>T	ENST00000379919.4	-	1	686	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	44					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		ACTTCCACTTCCTTCAGTACG	0.502													T	36050146	C	T	36050146	3	4	364	1	0	0	0	0	1	0	0	0	9212	864	30	2	953	2	MAB21L1	13	36050146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2346718	36050146	79119732	10177	33679											
NBEA	26960	broad.mit.edu	37	chr13	36241642	36241642	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatactatgaacgagggCgattcagtaatttcagcatt	13	13	8	7	2	3	1	3	1	0	0	3	3	3	1	0	1	3	2	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36241642C>T	ENST00000400445.3	+	56	9067	c.8533C>T	c.(8533-8535)Cga>Tga	p.R2845*	NBEA_ENST00000379922.3_Nonsense_Mutation_p.R423*|NBEA_ENST00000537702.1_Nonsense_Mutation_p.R638*|NBEA_ENST00000310336.4_Nonsense_Mutation_p.R2845*|NBEA_ENST00000540320.1_Nonsense_Mutation_p.R2845*|NBEA_ENST00000379939.2_Nonsense_Mutation_p.R2842*	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2845						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding	p.R2845*(1)		NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGAACGAGGGCGATTCAGTAA	0.428													T	36241642	C	T	36241642	4	4	364	1	0	0	0	0	0	1	0	0	10263	760	27	1	8755	1	NBEA	13	36241642	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191496	36241642	78928236	10178	33680											
DCLK1	9201	broad.mit.edu	37	chr13	36362372	36362372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccaatacattcctggttgCtggtagtagtccaaagaccc	11	11	8	11	0	0	1	0	0	0	1	3	1	3	1	4	2	2	4	4	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36362372C>T	ENST00000255448.4	-	17	2320	c.2109G>A	c.(2107-2109)caG>caA	p.Q703Q	DCLK1_ENST00000360631.3_Intron|DCLK1_ENST00000379893.1_Intron	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	0					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		TTCCTGGTTGCTGGTAGTAGT	0.488													T	36362372	C	T	36362372	2	4	364	1	0	0	0	0	0	0	0	1	4325	796	28	2		2	DCLK1	13	36362372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120730	36362372	78807506	10179	33681											
SPG20	23111	broad.mit.edu	37	chr13	36886330	36886330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaacattgttaacgatgCatttagctgcacattccaat	13	13	6	9	1	0	1	0	1	0	0	1	2	1	1	1	0	5	4	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36886330C>T	ENST00000451493.1	-	8	1902	c.1685G>A	c.(1684-1686)tGc>tAc	p.C562Y	SPG20_ENST00000494062.2_Missense_Mutation_p.C562Y|SPG20_ENST00000438666.2_Missense_Mutation_p.C562Y|SPG20_ENST00000355182.4_Missense_Mutation_p.C562Y	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	562					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		GTTAACGATGCATTTAGCTGC	0.323													T	36886330	C	T	36886330	3	4	364	1	0	0	0	0	1	0	0	0	15138	710	25	2	323	2	SPG20	13	36886330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	523958	36886330	78283548	10180	33682											
SPG20	23111	broad.mit.edu	37	chr13	36909330	36909330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctgcatccagccctaagGtctcaagaggcggtggctga	9	8	12	12	1	2	2	1	1	2	1	4	2	3	2	2	4	2	2	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:36909330G>A	ENST00000451493.1	-	2	855	c.638C>T	c.(637-639)aCc>aTc	p.T213I	SPG20_ENST00000494062.2_Missense_Mutation_p.T213I|SPG20_ENST00000438666.2_Missense_Mutation_p.T213I|SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.T213I	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	213					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGCCCTAAGGTCTCAAGAGG	0.443													A	36909330	G	A	36909330	3	1	364	1	0	0	0	0	1	0	0	0	15138	1261	44	2	1394	2	SPG20	13	36909330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23000	36909330	78260548	10181	33683											
SMAD9	4093	broad.mit.edu	37	chr13	37439691	37439691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctttcctatatgtctcCtggtattttctatcgttgag	6	19	6	10	1	2	1	0	1	2	0	5	1	3	1	3	1	1	2	3	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439691C>A	ENST00000379826.4	-	5	1328	c.986G>T	c.(985-987)aGg>aTg	p.R329M	SMAD9_ENST00000399275.2_Missense_Mutation_p.R329M|SMAD9_ENST00000350148.5_Missense_Mutation_p.R292M	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	329	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATATGTCTCCTGGTATTTTC	0.413													A	37439691	C	A	37439691	3	1	364	1	0	0	0	0	1	0	0	0	14858	681	24	4	429	4	SMAD9	13	37439691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	530361	37439691	77730187	10182	33684											
SMAD9	4093	broad.mit.edu	37	chr13	37439705	37439705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtctcctggtattttctatCgttgagtttctgtttacatt	5	22	7	7	1	3	1	0	1	3	0	5	1	3	1	1	1	1	4	1	1	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37439705C>T	ENST00000379826.4	-	5	1314	c.972G>A	c.(970-972)acG>acA	p.T324T	SMAD9_ENST00000399275.2_Silent_p.T324T|SMAD9_ENST00000350148.5_Silent_p.T287T	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	324	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		TATTTTCTATCGTTGAGTTTC	0.408													T	37439705	C	T	37439705	2	4	364	1	0	0	0	0	0	0	0	1	14858	871	31	1		1	SMAD9	13	37439705	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	37439705	77730173	10183	33685											
SMAD9	4093	broad.mit.edu	37	chr13	37446850	37446850	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctggggagtgagggtaGctggccgtgcacggggactg	5	8	19	9	2	0	1	0	1	0	0	1	3	1	3	2	6	2	3	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37446850G>A	ENST00000379826.4	-	3	957	c.615C>T	c.(613-615)agC>agT	p.S205S	SMAD9_ENST00000399275.2_Silent_p.S205S|SMAD9_ENST00000350148.5_Silent_p.S205S	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	205					BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		AGTGAGGGTAGCTGGCCGTGC	0.577													A	37446850	G	A	37446850	2	1	364	1	0	0	0	0	0	0	0	1	14858	962	34	2		2	SMAD9	13	37446850	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7145	37446850	77723028	10184	33686											
ALG5	29880	broad.mit.edu	37	chr13	37559765	37559765	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actacattcttatactcacaGgccaaggctgtagatcattt	12	13	6	10	0	3	1	2	0	1	1	3	1	3	1	1	2	2	2	1	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37559765G>T	ENST00000239891.3	-	6	626	c.560C>A	c.(559-561)cCt>cAt	p.P187H	ALG5_ENST00000443765.1_Splice_Site_p.P157H|ALG5_ENST00000413537.2_Splice_Site_p.P187H	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	187					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		TATACTCACAGGCCAAGGCTG	0.378													T	37559765	G	T	37559765	5	4	364	1	0	0	0	0	0	0	1	0	521	1014	35	4	434	4	ALG5	13	37559765	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112915	37559765	77610113	10185	33687											
ALG5	29880	broad.mit.edu	37	chr13	37569720	37569720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgtagcagttgtaaatGcaacgatggaaatctaaaag	15	13	9	4	1	1	0	0	0	1	0	1	2	1	1	0	1	3	5	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37569720G>A	ENST00000239891.3	-	2	146	c.80C>T	c.(79-81)gCa>gTa	p.A27V	ALG5_ENST00000443765.1_Missense_Mutation_p.A27V|ALG5_ENST00000413537.2_Missense_Mutation_p.A27V|ALG5_ENST00000496689.1_5'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	27					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		AGTTGTAAATGCAACGATGGA	0.343													A	37569720	G	A	37569720	3	1	364	1	0	0	0	0	1	0	0	0	521	1319	46	2	930	2	ALG5	13	37569720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9955	37569720	77600158	10186	33688											
CSNK1A1L	122011	broad.mit.edu	37	chr13	37678880	37678880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttctctgtacggtatgtGttgcctggtcctgttgtctc	3	18	10	10	1	3	0	0	0	3	0	6	0	4	0	2	2	2	4	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:37678880G>A	ENST00000379800.3	-	1	923	c.514C>T	c.(514-516)Cac>Tac	p.H172Y		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	172	Protein kinase.				Wnt receptor signaling pathway	cytoplasm	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		TACGGTATGTGTTGCCTGGTC	0.458													A	37678880	G	A	37678880	3	1	364	1	0	0	0	0	1	0	0	0	3984	1377	48	2	503	2	CSNK1A1L	13	37678880	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109160	37678880	77490998	10187	33689											
POSTN	10631	broad.mit.edu	37	chr13	38160320	38160320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatcctttctaggacacctCgtggaagtttctcaaaagcc	10	12	8	11	1	2	1	1	1	2	0	5	3	3	3	3	2	1	1	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38160320C>T	ENST00000379747.4	-	7	968	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	POSTN_ENST00000541179.1_Missense_Mutation_p.R284Q|POSTN_ENST00000379742.4_Missense_Mutation_p.R284Q|POSTN_ENST00000379743.4_Missense_Mutation_p.R284Q|POSTN_ENST00000541481.1_Missense_Mutation_p.R284Q|POSTN_ENST00000379749.4_Missense_Mutation_p.R284Q	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	284	FAS1 2.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TAGGACACCTCGTGGAAGTTT	0.483													T	38160320	C	T	38160320	3	4	364	1	0	0	0	0	1	0	0	0	12336	884	31	1	1727	1	POSTN	13	38160320	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481440	38160320	77009558	10188	33690											
TRPC4	7223	broad.mit.edu	37	chr13	38211112	38211112	+	Missense_Mutation	SNP	G	G	T																															agatcatagtctatactagaGtcctcttcttttgcatgttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211112G>T	ENST00000379705.3	-	11	3719	c.2862C>A	c.(2860-2862)gaC>gaA	p.D954E	TRPC4_ENST00000447043.1_Missense_Mutation_p.D813E|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781E|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781E|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805E|TRPC4_ENST00000355779.2_Missense_Mutation_p.D813E|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870E|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959E			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATACTAGAGTCCTCTTCTT	0.443													T	38211112	G	T	38211112	3	4	364	1	0	0	0	0	1	0	0	0	16681	1020	36	4	75	4	TRPC4	13	38211112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50792	38211112	76958766	10189	33691	93	2									
TRPC4	7223	broad.mit.edu	37	chr13	38211113	38211113	+	Missense_Mutation	SNP	T	T	C																															gatcatagtctatactagagTcctcttcttttgcatgtttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:38211113T>C	ENST00000379705.3	-	11	3718	c.2861A>G	c.(2860-2862)gAc>gGc	p.D954G	TRPC4_ENST00000447043.1_Missense_Mutation_p.D813G|TRPC4_ENST00000379679.1_Missense_Mutation_p.D781G|TRPC4_ENST00000426868.2_3'UTR|TRPC4_ENST00000338947.5_Missense_Mutation_p.D781G|TRPC4_ENST00000379673.2_Missense_Mutation_p.D805G|TRPC4_ENST00000355779.2_Missense_Mutation_p.D813G|TRPC4_ENST00000358477.2_Missense_Mutation_p.D870G|TRPC4_ENST00000379681.3_Missense_Mutation_p.D959G			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	954	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TATACTAGAGTCCTCTTCTTT	0.438													C	38211113	T	C	38211113	3	2	364	1	0	0	0	0	1	0	0	0	16681	1667	58	3	76	3	TRPC4	13	38211113	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1	38211113	76958765	10190	33692	93	2									
FREM2	341640	broad.mit.edu	37	chr13	39262270	39262270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctttccaggaactaggCgtgcgctatcgccacacagc	11	7	10	13	3	0	0	0	0	0	0	2	1	1	1	2	2	4	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39262270C>T	ENST00000280481.7	+	1	1005	c.789C>T	c.(787-789)ggC>ggT	p.G263G		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	263					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		AGGAACTAGGCGTGCGCTATC	0.632													T	39262270	C	T	39262270	2	4	364	1	0	0	0	0	0	0	0	1	6097	755	27	1		1	FREM2	13	39262270	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1051157	39262270	75907608	10191	33693											
FREM2	341640	broad.mit.edu	37	chr13	39263238	39263238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcccctttccctgagtgCaactgacatggattcagatg	8	11	9	13	0	1	3	1	2	0	1	2	4	2	4	4	1	3	1	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39263238C>T	ENST00000280481.7	+	1	1973	c.1757C>T	c.(1756-1758)gCa>gTa	p.A586V		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	586					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TCCCTGAGTGCAACTGACATG	0.542													T	39263238	C	T	39263238	3	4	364	1	0	0	0	0	1	0	0	0	6097	710	25	2	1759	2	FREM2	13	39263238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968	39263238	75906640	10192	33694											
FREM2	341640	broad.mit.edu	37	chr13	39422740	39422740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaactggtgcttcgcatGcctatgaacgcagcccttgg	7	12	11	11	2	0	2	0	2	0	0	1	2	0	2	2	2	5	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39422740G>A	ENST00000280481.7	+	8	6528	c.6312G>A	c.(6310-6312)atG>atA	p.M2104I	FREM2_ENST00000482551.1_3'UTR	NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2104					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TGCTTCGCATGCCTATGAACG	0.463													A	39422740	G	A	39422740	3	1	364	1	0	0	0	0	1	0	0	0	6097	1319	46	2	6342	2	FREM2	13	39422740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159502	39422740	75747138	10193	33695											
FREM2	341640	broad.mit.edu	37	chr13	39438616	39438616	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtacagcttgtccatcaGaggttccactaccttgcgct	8	11	8	14	1	1	1	1	0	0	1	3	1	3	1	4	1	4	4	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39438616G>T	ENST00000280481.7	+	16	8072	c.7856G>T	c.(7855-7857)aGa>aTa	p.R2619I		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	2619					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		TTGTCCATCAGAGGTTCCACT	0.433													T	39438616	G	T	39438616	3	4	364	1	0	0	0	0	1	0	0	0	6097	942	33	4	7918	4	FREM2	13	39438616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15876	39438616	75731262	10194	33696											
NHLRC3	387921	broad.mit.edu	37	chr13	39622004	39622004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatgtagcagaaattggaGcaaaacaagtacaaaaatat	20	9	7	5	0	1	1	0	0	1	1	1	2	1	2	0	1	4	4	0	1	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:39622004G>A	ENST00000379600.3	+	7	1307	c.985G>A	c.(985-987)Gca>Aca	p.A329T	NHLRC3_ENST00000470258.1_Missense_Mutation_p.A132T|NHLRC3_ENST00000379599.2_Missense_Mutation_p.A262T	NM_001012754.3	NP_001012772.1	Q5JS37	NHLC3_HUMAN	NHL repeat containing 3	329						extracellular region				breast(1)|kidney(1)|large_intestine(3)|lung(4)|skin(2)	11		Lung NSC(96;6.01e-07)|Breast(139;0.00394)|Prostate(109;0.00676)|Lung SC(185;0.0548)|Hepatocellular(188;0.114)		all cancers(112;2.37e-08)|Epithelial(112;3.14e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00101)|BRCA - Breast invasive adenocarcinoma(63;0.00335)|GBM - Glioblastoma multiforme(144;0.0128)		AGAAATTGGAGCAAAACAAGT	0.393													A	39622004	G	A	39622004	3	1	364	1	0	0	0	0	1	0	0	0	10483	971	34	2	1011	2	NHLRC3	13	39622004	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183388	39622004	75547874	10195	33697											
MRPS31	10240	broad.mit.edu	37	chr13	41323302	41323302	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttaattgggaactcccaTagtttcccctcttttgtcca	7	17	6	11	0	1	0	0	0	1	0	4	1	4	1	4	1	1	2	4	1	3	7	rs142931494	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41323302T>C	ENST00000323563.6	-	6	966	c.930A>G	c.(928-930)ctA>ctG	p.L310L	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	310						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GGAACTCCCATAGTTTCCCCT	0.378													C	41323302	T	C	41323302	2	2	364	1	0	0	0	0	0	0	0	1	9917	1393	49	3		3	MRPS31	13	41323302	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1701298	41323302	73846576	10196	33698											
ELF1	1997	broad.mit.edu	37	chr13	41525483	41525483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttattcgtttttcatccaGcatagggccaggggaatcca	10	12	9	10	1	1	0	1	0	0	0	4	1	3	1	3	3	1	2	3	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41525483G>A	ENST00000239882.3	-	4	657	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L	ELF1_ENST00000442101.1_Silent_p.L115L|ELF1_ENST00000498824.1_5'UTR	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	115					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		TTTTCATCCAGCATAGGGCCA	0.373													A	41525483	G	A	41525483	2	1	364	1	0	0	0	0	0	0	0	1	5094	962	34	2		2	ELF1	13	41525483	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202181	41525483	73644395	10197	33699											
KBTBD6	89890	broad.mit.edu	37	chr13	41704782	41704782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaactctgaccaggttcaagGcaggaaggataaacacgagc	16	5	11	9	1	2	1	1	1	1	0	2	4	2	3	1	4	3	2	1	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41704782G>A	ENST00000379485.1	-	1	2100	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	KBTBD6_ENST00000499385.2_Silent_p.C556C	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	622							protein binding			NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		CAGGTTCAAGGCAGGAAGGAT	0.433													A	41704782	G	A	41704782	2	1	364	1	0	0	0	0	0	0	0	1	8055	1195	42	2		2	KBTBD6	13	41704782	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179299	41704782	73465096	10198	33700											
KBTBD7	84078	broad.mit.edu	37	chr13	41766997	41766997	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagggacaggagccaccAatgcccactggtttctctga	11	8	11	11	0	1	2	0	2	1	0	2	4	1	4	3	3	2	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41766997A>G	ENST00000379483.3	-	1	1705	c.1397T>C	c.(1396-1398)tTg>tCg	p.L466S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	466							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		AGGAGCCACCAATGCCCACTG	0.448													G	41766997	A	G	41766997	3	3	364	1	0	0	0	0	1	0	0	0	8056	131	5	3	661	3	KBTBD7	13	41766997	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62215	41766997	73402881	10199	33701											
KBTBD7	84078	broad.mit.edu	37	chr13	41767128	41767128	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatgccctcacgacacagCaagcgatctgcaagttgctg	10	8	9	14	2	2	0	1	0	1	0	3	2	3	0	2	0	5	4	2	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41767128C>T	ENST00000379483.3	-	1	1574	c.1266G>A	c.(1264-1266)ttG>ttA	p.L422L		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	422							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CACGACACAGCAAGCGATCTG	0.488													T	41767128	C	T	41767128	2	4	364	1	0	0	0	0	0	0	0	1	8056	709	25	2		2	KBTBD7	13	41767128	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131	41767128	73402750	10200	33702											
MTRF1	9617	broad.mit.edu	37	chr13	41814544	41814544	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacaccgtcaccggaaatTcgggcggctgcatgatgtag	10	8	13	10	4	1	2	1	1	0	1	2	3	1	3	2	3	1	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41814544T>C	ENST00000379480.4	-	6	823	c.723A>G	c.(721-723)cgA>cgG	p.R241R	MTRF1_ENST00000379477.1_Silent_p.R241R|MTRF1_ENST00000430347.2_Silent_p.R254R	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	241					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CACCGGAAATTCGGGCGGCTG	0.483													C	41814544	T	C	41814544	2	2	364	1	0	0	0	0	0	0	0	1	10035	1770	62	3		3	MTRF1	13	41814544	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47416	41814544	73355334	10201	33703											
MTRF1	9617	broad.mit.edu	37	chr13	41834982	41834982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatggagctggatgtgaCactggaggtaaccattaaga	14	8	14	5	0	0	3	0	1	0	2	0	7	0	6	1	4	2	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41834982C>T	ENST00000379480.4	-	2	162	c.62G>A	c.(61-63)tGt>tAt	p.C21Y	MTRF1_ENST00000379477.1_Missense_Mutation_p.C21Y|MTRF1_ENST00000239852.6_5'UTR|MTRF1_ENST00000430347.2_Missense_Mutation_p.C34Y	NM_004294.2	NP_004285.2	O75570	RF1M_HUMAN	mitochondrial translational release factor 1	21					regulation of translational termination	mitochondrion	translation release factor activity, codon specific			breast(1)|endometrium(4)|large_intestine(3)|lung(6)	14		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)|Ovarian(182;0.125)		OV - Ovarian serous cystadenocarcinoma(117;4.24e-10)|all cancers(112;2.05e-09)|Epithelial(112;2.48e-09)|GBM - Glioblastoma multiforme(144;0.00115)|BRCA - Breast invasive adenocarcinoma(63;0.0721)|KIRC - Kidney renal clear cell carcinoma(186;0.248)		CTGGATGTGACACTGGAGGTA	0.363													T	41834982	C	T	41834982	3	4	364	1	0	0	0	0	1	0	0	0	10035	478	17	2	1311	2	MTRF1	13	41834982	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20438	41834982	73334896	10202	33704											
NAA16	79612	broad.mit.edu	37	chr13	41897203	41897203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttttttaggagacaagataCcagcttcttcagttgcgccc	9	14	8	10	1	2	2	1	0	1	2	2	3	2	2	2	1	3	2	2	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41897203C>T	ENST00000379406.3	+	5	738	c.414C>T	c.(412-414)taC>taT	p.Y138Y	NAA16_ENST00000403412.3_Silent_p.Y138Y|NAA16_ENST00000379367.3_Silent_p.Y138Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	138					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AGACAAGATACCAGCTTCTTC	0.353													T	41897203	C	T	41897203	2	4	364	1	0	0	0	0	0	0	0	1	10195	518	18	2		2	NAA16	13	41897203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62221	41897203	73272675	10203	33705											
NAA16	79612	broad.mit.edu	37	chr13	41936259	41936259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcagcgtctggggagataCggggatgccttgaaaaaatg	12	9	14	6	2	2	2	1	1	1	1	2	4	2	3	1	4	3	0	1	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41936259C>T	ENST00000379406.3	+	13	1827	c.1503C>T	c.(1501-1503)taC>taT	p.Y501Y	NAA16_ENST00000379367.3_Silent_p.Y501Y	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	501					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						TGGGGAGATACGGGGATGCCT	0.388													T	41936259	C	T	41936259	2	4	364	1	0	0	0	0	0	0	0	1	10195	547	19	1		1	NAA16	13	41936259	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39056	41936259	73233619	10204	33706											
NAA16	79612	broad.mit.edu	37	chr13	41943238	41943238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttatagaaaacttgtcagCcaaagaattgaagaaaatgc	19	10	7	5	0	1	4	1	1	0	3	1	4	1	4	1	0	3	0	1	0	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:41943238C>T	ENST00000379406.3	+	15	2090	c.1766C>T	c.(1765-1767)gCc>gTc	p.A589V	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	589					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						AACTTGTCAGCCAAAGAATTG	0.338													T	41943238	C	T	41943238	3	4	364	1	0	0	0	0	1	0	0	0	10195	739	26	2	1857	2	NAA16	13	41943238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6979	41943238	73226640	10205	33707											
DGKH	160851	broad.mit.edu	37	chr13	42763391	42763391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaccaagggaaatcatgttgCgggcaaatagtttaaagaaa	18	8	10	5	1	1	1	1	0	0	1	1	2	1	2	1	2	2	3	1	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42763391C>T	ENST00000261491.5	+	15	1879	c.1858C>T	c.(1858-1860)Cgg>Tgg	p.R620W	DGKH_ENST00000379274.2_Missense_Mutation_p.R484W|DGKH_ENST00000538674.1_Missense_Mutation_p.R375W|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.R620W|DGKH_ENST00000540693.1_Missense_Mutation_p.R620W|DGKH_ENST00000536612.1_Missense_Mutation_p.R484W	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATCATGTTGCGGGCAAATAG	0.453													T	42763391	C	T	42763391	3	4	364	1	0	0	0	0	1	0	0	0	4509	759	27	1	1916	1	DGKH	13	42763391	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	820153	42763391	72406487	10206	33708											
DGKH	160851	broad.mit.edu	37	chr13	42773749	42773749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaacaattactttgggattgGattagatgcaaaaatttcat	15	14	8	4	0	1	1	1	0	0	1	1	4	1	3	0	2	3	1	0	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42773749G>A	ENST00000261491.5	+	19	2354	c.2333G>A	c.(2332-2334)gGa>gAa	p.G778E	DGKH_ENST00000379274.2_Missense_Mutation_p.G642E|DGKH_ENST00000538674.1_Missense_Mutation_p.G533E|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000337343.4_Missense_Mutation_p.G778E|DGKH_ENST00000540693.1_Missense_Mutation_p.G778E|DGKH_ENST00000536612.1_Missense_Mutation_p.G642E	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TTTGGGATTGGATTAGATGCA	0.284													A	42773749	G	A	42773749	3	1	364	1	0	0	0	0	1	0	0	0	4509	1174	41	2	2407	2	DGKH	13	42773749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10358	42773749	72396129	10207	33709											
AKAP11	11215	broad.mit.edu	37	chr13	42869861	42869861	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttttaatgaagagacaGatgctgctcatatacaggta	13	12	11	5	0	1	3	1	1	0	2	1	4	1	3	0	2	3	4	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:42869861G>T	ENST00000025301.2	+	5	374	c.199G>T	c.(199-201)Gat>Tat	p.D67Y		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	67					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding	p.D67Y(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TGAAGAGACAGATGCTGCTCA	0.348													T	42869861	G	T	42869861	3	4	364	1	0	0	0	0	1	0	0	0	447	942	33	4	209	4	AKAP11	13	42869861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96112	42869861	72300017	10208	33710											
EPSTI1	94240	broad.mit.edu	37	chr13	43538202	43538203	+	Splice_Site	INS	-	-	T																															aaaagagatgaattctgaccINSttttgcttgtatttagattg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:43538202_43538203insT	ENST00000313640.7	-	4	468_469	c.404_405insA	c.(403-405)aag>aaAg	p.K135fs	EPSTI1_ENST00000398762.3_Splice_Site_p.K135fs|EPSTI1_ENST00000313624.7_Splice_Site_p.K135fs|EPSTI1_ENST00000476830.2_5'UTR	NM_001002264.2	NP_001002264.1	Q96J88	ESIP1_HUMAN	epithelial stromal interaction 1 (breast)	135										endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|skin(1)	17		Lung NSC(96;3.6e-06)|Breast(139;0.00869)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		GBM - Glioblastoma multiforme(144;0.000528)|BRCA - Breast invasive adenocarcinoma(63;0.0858)		GAATTCTGACCTTTTGCTTGTA	0.351													T	43538203	-	T	43538202	8	5	364	1	0	1	1	0	0	0	1	0	5239	695	24	0	867	0	EPSTI1	13	43538202	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	668341	43538202	71631676	10209	33711											
CCDC122	160857	broad.mit.edu	37	chr13	44432972	44432972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcctcaagaaaacaaGttttttcaatgatagattct	13	17	4	7	0	4	3	2	1	2	2	5	3	5	3	1	0	1	1	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44432972G>A	ENST00000444614.3	-	6	875	c.617C>T	c.(616-618)aCt>aTt	p.T206I	CCDC122_ENST00000281508.3_Missense_Mutation_p.T206I|CCDC122_ENST00000476570.2_5'UTR	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	206										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		AAGAAAACAAGTTTTTTCAAT	0.249													A	44432972	G	A	44432972	3	1	364	1	0	0	0	0	1	0	0	0	2784	1029	36	2	212	2	CCDC122	13	44432972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	894770	44432972	70736906	10210	33712											
CCDC122	160857	broad.mit.edu	37	chr13	44433879	44433880	+	Frame_Shift_Ins	INS	-	-	T																															tcttctttcattgtctttaaINSttttttaacaaaatctcgct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:44433879_44433880insT	ENST00000444614.3	-	5	741_742	c.483_484insA	c.(481-486)aaattafs	p.L162fs	CCDC122_ENST00000476570.2_5'UTR|CCDC122_ENST00000281508.3_Frame_Shift_Ins_p.L162fs	NM_144974.3	NP_659411.2	Q5T0U0	CC122_HUMAN	coiled-coil domain containing 122	162										endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9		Lung NSC(96;7.5e-06)|Breast(139;0.00765)|Hepatocellular(98;0.00826)|Prostate(109;0.0143)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000767)|BRCA - Breast invasive adenocarcinoma(63;0.128)		ATTGTCTTTAATTTTTTAACAA	0.317													T	44433880	-	T	44433879	7	5	364	1	0	1	1	0	0	0	0	0	2784	98	4	0	349	0	CCDC122	13	44433879	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	907	44433879	70735999	10211	33713											
TSC22D1	8848	broad.mit.edu	37	chr13	45008933	45008933	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctcctgctccagctgggaAtttttctctattagttcttt	5	20	6	10	0	3	0	0	0	3	0	6	1	4	1	2	1	2	3	2	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45008933A>G	ENST00000458659.2	-	3	3541	c.3051T>C	c.(3049-3051)aaT>aaC	p.N1017N	TSC22D1_ENST00000501704.2_Intron|TSC22D1_ENST00000261489.2_Silent_p.N88N	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	1017	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		CCAGCTGGGAATTTTTCTCTA	0.502													G	45008933	A	G	45008933	2	3	364	1	0	0	0	0	0	0	0	1	16708	98	4	3		3	TSC22D1	13	45008933	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	575054	45008933	70160945	10212	33714											
NUFIP1	26747	broad.mit.edu	37	chr13	45533519	45533519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgtttagcttaccagAatcactgtttatcaaaacac	12	15	4	10	0	2	1	2	0	0	1	3	1	3	1	2	0	3	3	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533519A>G	ENST00000379161.4	-	7	1064	c.1018T>C	c.(1018-1020)Tct>Cct	p.S340P		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	340					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		AGCTTACCAGAATCACTGTTT	0.393													G	45533519	A	G	45533519	3	3	364	1	0	0	0	0	1	0	0	0	10824	246	9	3	485	3	NUFIP1	13	45533519	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	524586	45533519	69636359	10213	33715											
NUFIP1	26747	broad.mit.edu	37	chr13	45533618	45533618	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatccagtgactgctcTctgtctagaattgtcgtttt	6	16	9	10	1	2	3	0	2	2	1	5	3	3	3	2	0	1	2	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:45533618T>G	ENST00000379161.4	-	7	965	c.919A>C	c.(919-921)Aga>Cga	p.R307R		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	307					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		GTGACTGCTCTCTGTCTAGAA	0.443													G	45533618	T	G	45533618	2	3	364	1	0	0	0	0	0	0	0	1	10824	1559	54	5		5	NUFIP1	13	45533618	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	99	45533618	69636260	10214	33716											
SPERT	220082	broad.mit.edu	37	chr13	46287719	46287719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgcgcgaggagaacCggatgctcagcaaggagaac	12	3	15	11	3	1	2	1	0	0	2	1	6	1	3	2	4	5	2	2	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46287719C>T	ENST00000378966.3	+	2	867	c.451C>T	c.(451-453)Cgg>Tgg	p.R151W	SPERT_ENST00000310521.1_Missense_Mutation_p.R187W			Q8NA61	SPERT_HUMAN	spermatid associated	187						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGAGGAGAACCGGATGCTCAG	0.627													T	46287719	C	T	46287719	3	4	364	1	0	0	0	0	1	0	0	0	15135	643	23	1	569	1	SPERT	13	46287719	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	754101	46287719	68882159	10215	33717											
ZC3H13	23091	broad.mit.edu	37	chr13	46549874	46549874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagccctttcatctctcCtatcatccactctgtctact	6	16	2	17	0	6	0	2	0	4	0	9	0	8	0	3	0	2	0	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46549874C>A	ENST00000242848.4	-	12	2360	c.2012G>T	c.(2011-2013)aGg>aTg	p.R671M	ZC3H13_ENST00000282007.3_Missense_Mutation_p.R671M			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	671	Arg/Glu-rich.						nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TTCATCTCTCCTATCATCCAC	0.502													A	46549874	C	A	46549874	3	1	364	1	0	0	0	0	1	0	0	0	17666	681	24	4	2706	4	ZC3H13	13	46549874	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262155	46549874	68620004	10216	33718											
ZC3H13	23091	broad.mit.edu	37	chr13	46619132	46619132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttaccacgaggtgaagggCcatgtacgaatctacatgtg	11	10	11	9	2	1	1	0	1	1	0	1	3	1	1	2	2	3	1	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46619132C>T	ENST00000242848.4	-	3	533	c.185G>A	c.(184-186)gGc>gAc	p.G62D	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G62D			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	62							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		AGGTGAAGGGCCATGTACGAA	0.373													T	46619132	C	T	46619132	3	4	364	1	0	0	0	0	1	0	0	0	17666	739	26	2	4569	2	ZC3H13	13	46619132	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69258	46619132	68550746	10217	33719											
CPB2	1361	broad.mit.edu	37	chr13	46638873	46638873	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggttctttctccacattcGattctacataaacaaaatac	14	13	3	11	2	3	0	0	0	3	0	5	1	3	0	1	1	3	1	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46638873G>A	ENST00000181383.4	-	8	722	c.706C>T	c.(706-708)Cga>Tga	p.R236*	CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA|CPB2_ENST00000439329.3_Nonsense_Mutation_p.R199*|CPB2-AS1_ENST00000606991.1_RNA|CPB2-AS1_ENST00000606351.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	236					blood coagulation|fibrinolysis|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		CTCCACATTCGATTCTACATA	0.423													A	46638873	G	A	46638873	4	1	364	1	0	0	0	0	0	1	0	0	3828	1066	37	1	581	1	CPB2	13	46638873	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19741	46638873	68531005	10218	33720											
LCP1	3936	broad.mit.edu	37	chr13	46730704	46730704	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaggcatacttttcttcCtctgcaagtaaatgattaaa	15	13	5	8	0	2	1	0	1	2	0	3	1	3	1	1	1	2	3	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:46730704C>A	ENST00000398576.2	-	8	748	c.360G>T	c.(358-360)gaG>gaT	p.E120D	LCP1_ENST00000323076.2_Splice_Site_p.E120D			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	120	Actin-binding 1.|CH 1.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		ACTTTTCTTCCTCTGCAAGTA	0.373			T	BCL6	NHL								A	46730704	C	A	46730704	5	1	364	1	0	0	0	0	0	0	1	0	8750	695	24	4	1571	4	LCP1	13	46730704	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91831	46730704	68439174	10219	33721											
LRCH1	23143	broad.mit.edu	37	chr13	47262041	47262041	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgagcatacaagcatgcCagattaagacagctgactcc	14	8	8	11	0	1	4	0	2	1	2	2	4	2	4	2	0	5	3	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:47262041C>T	ENST00000311191.6	+	6	1106	c.877C>T	c.(877-879)Cag>Tag	p.Q293*	LRCH1_ENST00000389798.3_Nonsense_Mutation_p.Q293*|LRCH1_ENST00000389797.3_Nonsense_Mutation_p.Q293*	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	293										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		ACAAGCATGCCAGATTAAGAC	0.408													T	47262041	C	T	47262041	4	4	364	1	0	0	0	0	0	1	0	0	9002	595	21	2	899	2	LRCH1	13	47262041	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	531337	47262041	67907837	10220	33722											
NUDT15	55270	broad.mit.edu	37	chr13	48615099	48615099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagggaaacctgggaagaaGcagctcttcacctgaaaaat	17	6	10	8	0	2	2	1	1	1	1	2	4	2	4	2	2	3	2	2	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48615099G>T	ENST00000258662.2	+	2	382	c.202G>T	c.(202-204)Gca>Tca	p.A68S		NM_018283.1	NP_060753.1	Q9NV35	NUD15_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 15	68	Nudix hydrolase.						hydrolase activity|metal ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(1)	7		all_cancers(8;3.75e-25)|all_epithelial(8;1.78e-13)|all_lung(13;2.85e-06)|Breast(56;0.000141)|all_hematologic(8;0.000219)|Lung NSC(96;0.000226)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.0167)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;4.83e-07)		CTGGGAAGAAGCAGCTCTTCA	0.333													T	48615099	G	T	48615099	3	4	364	1	0	0	0	0	1	0	0	0	10807	971	34	4	208	4	NUDT15	13	48615099	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1353058	48615099	66554779	10221	33723											
MED4	29079	broad.mit.edu	37	chr13	48651342	48651342	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacatcatcttcattttctTtattatgcccaggaggttcc	8	17	5	11	0	4	0	2	0	2	0	5	1	5	1	2	2	2	1	2	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48651342T>G	ENST00000258648.2	-	7	771	c.746A>C	c.(745-747)aAa>aCa	p.K249T	MED4_ENST00000495013.1_5'UTR|MED4_ENST00000378586.1_Missense_Mutation_p.K203T|MED4-AS1_ENST00000422483.1_RNA	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	249					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		TTCATTTTCTTTATTATGCCC	0.368													G	48651342	T	G	48651342	3	3	364	1	0	0	0	0	1	0	0	0	9525	1841	64	5	70	5	MED4	13	48651342	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36243	48651342	66518536	10222	33724											
MED4	29079	broad.mit.edu	37	chr13	48653989	48653989	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttaacattacctggcaatcTtcctgctgcaagtgcatctc	9	13	6	13	0	2	0	0	0	2	0	4	0	3	0	2	1	5	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48653989T>G	ENST00000258648.2	-	6	656	c.631A>C	c.(631-633)Aga>Cga	p.R211R	MED4_ENST00000495013.1_5'UTR|MED4_ENST00000378586.1_Silent_p.R165R|MED4-AS1_ENST00000422483.1_RNA	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	211					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		CCTGGCAATCTTCCTGCTGCA	0.438													G	48653989	T	G	48653989	2	3	364	1	0	0	0	0	0	0	0	1	9525	1617	56	5		5	MED4	13	48653989	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2647	48653989	66515889	10223	33725											
MED4	29079	broad.mit.edu	37	chr13	48664488	48664488	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaaaagaagccacttacCtggttttcctctccagcctg	10	13	6	12	0	1	1	0	0	1	1	3	1	2	1	5	1	3	1	5	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48664488C>A	ENST00000258648.2	-	2	217	c.192G>T	c.(190-192)caG>caT	p.Q64H	MED4_ENST00000378586.1_Splice_Site_p.Q18H	NM_014166.3	NP_054885.1	Q9NPJ6	MED4_HUMAN	mediator complex subunit 4	64					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)	8		all_cancers(8;2.93e-25)|all_epithelial(8;4.38e-13)|all_lung(13;7.37e-06)|all_hematologic(8;8.61e-05)|Breast(56;0.000141)|Lung NSC(96;0.000518)|Prostate(109;0.00132)|Acute lymphoblastic leukemia(8;0.00559)|Myeloproliferative disorder(33;0.039)|Hepatocellular(98;0.0556)|Lung SC(185;0.102)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(144;5.18e-07)		AGCCACTTACCTGGTTTTCCT	0.294													A	48664488	C	A	48664488	5	1	364	1	0	0	0	0	0	0	1	0	9525	695	24	4	644	4	MED4	13	48664488	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10499	48664488	66505390	10224	33726											
LPAR6	10161	broad.mit.edu	37	chr13	48986512	48986512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcacccatacaaagtgtaCttaaaggagtcattatagaa	17	10	7	7	0	1	1	1	0	0	1	1	2	1	2	1	1	3	2	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:48986512C>A	ENST00000378434.4	-	7	1672	c.48G>T	c.(46-48)aaG>aaT	p.K16N	LPAR6_ENST00000345941.2_Missense_Mutation_p.K16N|RB1_ENST00000267163.4_Intron	NM_005767.5	NP_005758.2	P43657	LPAR6_HUMAN	lysophosphatidic acid receptor 6	16						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.0?(15)|p.?(4)		NS(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	14						ACAAAGTGTACTTAAAGGAGT	0.423													A	48986512	C	A	48986512	3	1	364	1	0	0	0	0	1	0	0	0	8979	564	20	4	990	4	LPAR6	13	48986512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322024	48986512	66183366	10225	33727											
RB1	5925	broad.mit.edu	37	chr13	49039423	49039423	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttacggattcctggagggaAcatctatatttcacccctga	10	12	8	11	1	2	1	1	1	1	0	3	4	3	4	3	3	2	0	3	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49039423A>G	ENST00000267163.4	+	23	2546	c.2408A>G	c.(2407-2409)aAc>aGc	p.N803S		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	803	Domain C; mediates interaction with E4F1.|Interaction with LIMD1.		N -> K (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(11)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCTGGAGGGAACATCTATATT	0.423		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			G	49039423	A	G	49039423	3	3	364	1	0	0	0	0	1	0	0	0	13186	43	2	3	2498	3	RB1	13	49039423	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	52911	49039423	66130455	10226	33728											
RCBTB2	1102	broad.mit.edu	37	chr13	49070385	49070385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcattctcctcgcagatgCcttgcttgatagtttgttgg	5	16	11	9	1	1	2	0	1	1	1	3	2	1	2	2	2	2	5	2	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49070385C>T	ENST00000344532.3	-	14	1880	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D	RCBTB2_ENST00000544492.1_Missense_Mutation_p.G212D|RCBTB2_ENST00000430805.2_Missense_Mutation_p.G491D	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	486							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		CTCGCAGATGCCTTGCTTGAT	0.493													T	49070385	C	T	49070385	3	4	364	1	0	0	0	0	1	0	0	0	13260	739	26	2	206	2	RCBTB2	13	49070385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30962	49070385	66099493	10227	33729											
RCBTB2	1102	broad.mit.edu	37	chr13	49075921	49075921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcataaatgtactttccatCaactagaaacttcaggtctg	13	13	6	9	0	3	1	2	0	1	1	4	1	4	1	1	1	4	2	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49075921C>T	ENST00000344532.3	-	12	1624	c.1201G>A	c.(1201-1203)Gat>Aat	p.D401N	RCBTB2_ENST00000544492.1_Missense_Mutation_p.D127N|RCBTB2_ENST00000430805.2_Missense_Mutation_p.D406N	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	401	BTB 1.						Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TACTTTCCATCAACTAGAAAC	0.383													T	49075921	C	T	49075921	3	4	364	1	0	0	0	0	1	0	0	0	13260	826	29	2	470	2	RCBTB2	13	49075921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5536	49075921	66093957	10228	33730											
CYSLTR2	57105	broad.mit.edu	37	chr13	49281518	49281518	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgtcacatcatgcttaGagctgaatctctataaaatt	13	13	7	8	0	3	2	2	1	1	1	4	2	3	2	0	0	2	3	0	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49281518G>T	ENST00000282018.3	+	1	568	c.565G>T	c.(565-567)Gag>Tag	p.E189*		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	189					immune response	integral to membrane|plasma membrane				endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATCATGCTTAGAGCTGAATCT	0.468													T	49281518	G	T	49281518	4	4	364	1	0	0	0	0	0	1	0	0	4235	943	33	4	567	4	CYSLTR2	13	49281518	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	205597	49281518	65888360	10229	33731											
FNDC3A	22862	broad.mit.edu	37	chr13	49741399	49741399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaagaaacaaatatcActttaaatgatctcaagcca	19	8	7	7	0	2	3	2	1	1	2	3	5	2	3	1	1	2	0	1	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49741399A>G	ENST00000492622.2	+	9	1302	c.997A>G	c.(997-999)Act>Gct	p.T333A	FNDC3A_ENST00000541916.1_Missense_Mutation_p.T333A|FNDC3A_ENST00000398316.3_Missense_Mutation_p.T277A	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	333	Fibronectin type-III 1.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AACAAATATCACTTTAAATGA	0.313													G	49741399	A	G	49741399	3	3	364	1	0	0	0	0	1	0	0	0	6018	159	6	3	1038	3	FNDC3A	13	49741399	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	459881	49741399	65428479	10230	33732											
FNDC3A	22862	broad.mit.edu	37	chr13	49749565	49749565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctatgccagcaagtcCtgtattaaccaaggctggaa	11	11	8	11	0	1	0	0	0	1	0	3	1	3	1	4	2	3	3	4	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49749565C>A	ENST00000492622.2	+	13	1723	c.1418C>A	c.(1417-1419)cCt>cAt	p.P473H	FNDC3A_ENST00000541916.1_Missense_Mutation_p.P473H|FNDC3A_ENST00000398316.3_Missense_Mutation_p.P417H	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	473	Fibronectin type-III 3.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		CCAGCAAGTCCTGTATTAACC	0.388													A	49749565	C	A	49749565	3	1	364	1	0	0	0	0	1	0	0	0	6018	681	24	4	1475	4	FNDC3A	13	49749565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8166	49749565	65420313	10231	33733											
FNDC3A	22862	broad.mit.edu	37	chr13	49765489	49765489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcctggaaagacatacaGcttcagactacgtgcagcta	12	10	8	11	1	2	2	1	0	1	2	3	3	3	3	1	1	5	3	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49765489G>A	ENST00000492622.2	+	19	2500	c.2195G>A	c.(2194-2196)aGc>aAc	p.S732N	FNDC3A_ENST00000541916.1_Missense_Mutation_p.S732N|FNDC3A_ENST00000398316.3_Missense_Mutation_p.S676N	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	732	Fibronectin type-III 5.					Golgi membrane|integral to membrane				endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		AAGACATACAGCTTCAGACTA	0.378													A	49765489	G	A	49765489	3	1	364	1	0	0	0	0	1	0	0	0	6018	971	34	2	2276	2	FNDC3A	13	49765489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15924	49765489	65404389	10232	33734											
MLNR	2862	broad.mit.edu	37	chr13	49794762	49794762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgccgttcgacctgtacCgcctctggcgctcgcggccc	2	8	13	18	6	1	0	0	0	1	0	3	1	1	0	5	3	2	4	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:49794762C>T	ENST00000398307.1	+	1	289	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	MLNR_ENST00000218721.1_Missense_Mutation_p.R97C			O43193	MTLR_HUMAN	motilin receptor	97					digestion	integral to plasma membrane	growth hormone-releasing hormone receptor activity			endometrium(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)	14		all_lung(13;8.31e-06)|Lung NSC(96;0.000251)|Breast(56;0.0008)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;6.1e-09)		CGACCTGTACCGCCTCTGGCG	0.687													T	49794762	C	T	49794762	3	4	364	1	0	0	0	0	1	0	0	0	9707	652	23	1	291	1	MLNR	13	49794762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29273	49794762	65375116	10233	33735											
SETDB2	83852	broad.mit.edu	37	chr13	50054363	50054363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccttttagaacaaaatGtgcatgtcttcaactgacag	12	12	7	10	0	2	2	1	1	1	1	2	2	2	2	2	0	4	1	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50054363G>A	ENST00000354234.4	+	7	1784	c.878G>A	c.(877-879)tGt>tAt	p.C293Y	SETDB2_ENST00000317257.8_Missense_Mutation_p.C305Y|SETDB2_ENST00000258672.5_Missense_Mutation_p.C293Y	NM_001160308.1	NP_001153780.1	Q96T68	SETB2_HUMAN	SET domain, bifurcated 2	305	Pre-SET.				cell division|chromosome segregation|heart looping|left/right axis specification|mitosis|negative regulation of transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone methyltransferase activity (H3-K9 specific)|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	15		Lung NSC(96;0.000408)|Breast(56;0.00131)|Prostate(109;0.00446)|Hepatocellular(98;0.0556)|Glioma(44;0.236)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;3.1e-09)		AGAACAAAATGTGCATGTCTT	0.358													A	50054363	G	A	50054363	3	1	364	1	0	0	0	0	1	0	0	0	14232	1377	48	2	940	2	SETDB2	13	50054363	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	259601	50054363	65115515	10234	33736											
PHF11	51131	broad.mit.edu	37	chr13	50087244	50087244	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaggatccacttaatcCtgatagaagttttgatgtgg	11	13	11	6	0	1	3	1	2	0	1	3	5	3	5	2	3	0	1	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50087244C>A	ENST00000357596.3	+	4	425	c.149C>A	c.(148-150)cCt>cAt	p.P50H	PHF11_ENST00000378319.3_Missense_Mutation_p.P89H|PHF11_ENST00000488958.1_Missense_Mutation_p.P50H	NM_001040444.1	NP_001035534.1	Q9UIL8	PHF11_HUMAN	PHD finger protein 11	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			large_intestine(3)|lung(1)	4		Lung NSC(96;2.1e-05)|Breast(56;0.00017)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.38e-09)		CCACTTAATCCTGATAGAAGT	0.363													A	50087244	C	A	50087244	3	1	364	1	0	0	0	0	1	0	0	0	11899	681	24	4	276	4	PHF11	13	50087244	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32881	50087244	65082634	10235	33737											
TRIM13	10206	broad.mit.edu	37	chr13	50586242	50586242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctccattcaagtgtcctAcatgccgtaaggaaacttca	12	10	7	12	1	2	0	2	0	0	0	4	1	4	1	3	1	4	2	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586242A>G	ENST00000378182.3	+	2	904	c.166A>G	c.(166-168)Aca>Gca	p.T56A	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.T59A|TRIM13_ENST00000420995.2_Missense_Mutation_p.T56A|TRIM13_ENST00000356017.4_Missense_Mutation_p.T59A|TRIM13_ENST00000457662.2_Missense_Mutation_p.T56A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	56					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGTGTCCTACATGCCGTAA	0.433													G	50586242	A	G	50586242	3	3	364	1	0	0	0	0	1	0	0	0	16589	391	14	3	181	3	TRIM13	13	50586242	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	498998	50586242	64583636	10236	33738											
TRIM13	10206	broad.mit.edu	37	chr13	50586765	50586765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatcttgcaggagcaacGgatggcctttaacattgctg	10	10	10	11	1	1	0	0	0	1	0	1	2	1	2	2	3	5	3	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:50586765G>A	ENST00000378182.3	+	2	1427	c.689G>A	c.(688-690)cGg>cAg	p.R230Q	TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.R233Q|TRIM13_ENST00000420995.2_Missense_Mutation_p.R230Q|TRIM13_ENST00000356017.4_Missense_Mutation_p.R233Q|TRIM13_ENST00000457662.2_Missense_Mutation_p.R230Q	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	230					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAGGAGCAACGGATGGCCTTT	0.403													A	50586765	G	A	50586765	3	1	364	1	0	0	0	0	1	0	0	0	16589	1116	39	1	704	1	TRIM13	13	50586765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	523	50586765	64583113	10237	33739											
RNASEH2B	79621	broad.mit.edu	37	chr13	51504821	51504821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttttgtaatctgcaggaGgtcttctccattttgccaca	7	16	7	11	0	3	0	0	0	3	0	4	1	3	1	3	2	2	2	3	2	1	6	rs76158094		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51504821G>T	ENST00000336617.3	+	4	646	c.247G>T	c.(247-249)Ggt>Tgt	p.G83C	RNASEH2B_ENST00000495244.2_3'UTR|RNASEH2B_ENST00000422660.1_Missense_Mutation_p.G83C	NM_024570.3	NP_078846.2	Q5TBB1	RNH2B_HUMAN	ribonuclease H2, subunit B	83					RNA catabolic process	nucleus|ribonuclease H2 complex				endometrium(2)|liver(1)|lung(1)|upper_aerodigestive_tract(1)	5		Acute lymphoblastic leukemia(7;1.03e-07)|Breast(56;0.00122)|Lung NSC(96;0.00143)|Prostate(109;0.0047)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;9e-08)		ATCTGCAGGAGGTCTTCTCCA	0.418													T	51504821	G	T	51504821	3	4	364	1	0	0	0	0	1	0	0	0	13504	1000	35	4	261	4	RNASEH2B	13	51504821	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	918056	51504821	63665057	10238	33740											
SERPINE3	647174	broad.mit.edu	37	chr13	51915233	51915233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcccagcctccatgccGcctttcctgatcaccctctt	5	11	4	21	1	2	1	1	1	1	0	5	1	5	1	8	0	2	0	8	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:51915233G>A	ENST00000524365.1	+	4	631	c.6G>A	c.(4-6)ccG>ccA	p.P2P	SERPINE3_ENST00000521255.1_Silent_p.P2P|SERPINE3_ENST00000400389.4_Silent_p.P2P			A8MV23	SERP3_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 3	2					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			ovary(2)	2						CCTCCATGCCGCCTTTCCTGA	0.552													A	51915233	G	A	51915233	2	1	364	1	0	0	0	0	0	0	0	1	14206	1074	38	1		1	SERPINE3	13	51915233	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410412	51915233	63254645	10239	33741											
INTS6	26512	broad.mit.edu	37	chr13	52025168	52025168	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttattcaacctacctgcccaTagttgtctatgccagttact	9	15	5	12	0	2	0	1	0	1	0	2	0	2	0	4	0	5	2	4	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52025168T>C	ENST00000311234.4	-	3	804	c.332A>G	c.(331-333)tAt>tGt	p.Y111C	INTS6_ENST00000425000.1_5'UTR|INTS6_ENST00000491723.1_5'UTR|INTS6_ENST00000420668.2_Missense_Mutation_p.Y111C|INTS6_ENST00000398119.2_Missense_Mutation_p.Y98C|INTS6_ENST00000463928.1_Missense_Mutation_p.Y111C|INTS6_ENST00000442263.3_Missense_Mutation_p.Y111C	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	111	VWFA.				snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		TACCTGCCCATAGTTGTCTAT	0.353													C	52025168	T	C	52025168	3	2	364	1	0	0	0	0	1	0	0	0	7840	1406	49	3	2404	3	INTS6	13	52025168	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	109935	52025168	63144710	10240	33742											
WDFY2	115825	broad.mit.edu	37	chr13	52293442	52293442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctgagagtgggcagcGcctgggaggttatcggacca	7	8	16	10	2	1	1	0	1	1	1	2	4	1	3	2	4	2	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52293442G>A	ENST00000298125.5	+	5	623	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	148							metal ion binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGTGGGCAGCGCCTGGGAGGT	0.527													A	52293442	G	A	52293442	3	1	364	1	0	0	0	0	1	0	0	0	17371	1087	38	1	461	1	WDFY2	13	52293442	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268274	52293442	62876436	10241	33743											
ATP7B	540	broad.mit.edu	37	chr13	52544631	52544631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgttcatctcttaccagCttctttctgcagattccttt	5	17	7	12	1	4	1	1	0	3	1	6	1	5	1	2	1	3	3	2	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52544631C>T	ENST00000242839.4	-	3	1696	c.1540G>A	c.(1540-1542)Gct>Act	p.A514T	ATP7B_ENST00000448424.2_Missense_Mutation_p.A514T|ATP7B_ENST00000542656.1_Missense_Mutation_p.A482T|ATP7B_ENST00000400370.3_Intron|ATP7B_ENST00000418097.2_Missense_Mutation_p.A514T|ATP7B_ENST00000400366.3_Missense_Mutation_p.A403T|ATP7B_ENST00000344297.5_Missense_Mutation_p.A514T|ATP7B_ENST00000482841.1_5'UTR	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	514	HMA 5.				ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		CTCTTACCAGCTTCTTTCTGC	0.463									Wilson disease				T	52544631	C	T	52544631	3	4	364	1	0	0	0	0	1	0	0	0	1196	797	28	2	2933	2	ATP7B	13	52544631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251189	52544631	62625247	10242	33744											
ATP7B	540	broad.mit.edu	37	chr13	52585455	52585455	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctctggctgtgatctGtctctcctgctcaggcatcg	3	14	9	15	1	4	1	1	1	3	0	8	1	5	1	2	2	1	3	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52585455G>A	ENST00000242839.4	-	1	175	c.19C>T	c.(19-21)Cag>Tag	p.Q7*	ATP7B_ENST00000448424.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400370.3_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000418097.2_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000400366.3_Nonsense_Mutation_p.Q7*|ATP7B_ENST00000344297.5_Nonsense_Mutation_p.Q7*	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	7					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GCTGTGATCTGTCTCTCCTGC	0.597									Wilson disease				A	52585455	G	A	52585455	4	1	364	1	0	0	0	0	0	1	0	0	1196	1386	48	2	4462	2	ATP7B	13	52585455	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40824	52585455	62584423	10243	33745											
ALG11	440138	broad.mit.edu	37	chr13	52602699	52602699	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatttgaagtgacattcctAtcatctgtggaaaagttatt	13	15	8	5	0	2	2	1	2	1	0	3	4	3	3	1	1	0	1	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52602699A>G	ENST00000521508.1	+	4	1457	c.1452A>G	c.(1450-1452)ctA>ctG	p.L484L	UTP14C_ENST00000521776.2_5'UTR|ALG11_ENST00000519151.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_001004127.2	NP_001004127.2			ALG11, alpha-1,2-mannosyltransferase											endometrium(1)|large_intestine(6)|lung(4)|ovary(2)	13		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.44e-08)		TGACATTCCTATCATCTGTGG	0.308													G	52602699	A	G	52602699	2	3	364	1	0	0	0	0	0	0	0	1	513	436	16	3		3	ALG11	13	52602699	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17244	52602699	62567179	10244	33746											
UTP14C	9724	broad.mit.edu	37	chr13	52603190	52603190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaggatcaggagaaaagCtgggccttgcagatctgctt	11	9	13	8	0	2	3	1	1	1	2	2	5	2	4	1	3	3	3	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52603190C>A	ENST00000521776.2	+	2	983	c.250C>A	c.(250-252)Ctg>Atg	p.L84M	ALG11_ENST00000521508.1_3'UTR|ALG11_ENST00000523764.1_3'UTR	NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	84					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		AGGAGAAAAGCTGGGCCTTGC	0.448													A	52603190	C	A	52603190	3	1	364	1	0	0	0	0	1	0	0	0	17198	796	28	4	252	4	UTP14C	13	52603190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	491	52603190	62566688	10245	33747											
NEK3	4752	broad.mit.edu	37	chr13	52726773	52726773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatatctctgtgtagcacacGtttcttgtgaatgtgattta	9	17	9	6	1	2	2	0	2	2	0	3	3	2	2	0	0	1	3	0	0	4	6	rs138876819	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:52726773G>A	ENST00000452082.2	-	4	1657	c.427C>T	c.(427-429)Cgt>Tgt	p.R143C	NEK3_ENST00000339406.3_Missense_Mutation_p.R122C|NEK3_ENST00000378101.2_Missense_Mutation_p.R122C|NEK3_ENST00000400357.2_Missense_Mutation_p.R122C			P51956	NEK3_HUMAN	NIMA-related kinase 3	122	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		TGTAGCACACGTTTCTTGTGA	0.353													A	52726773	G	A	52726773	3	1	364	1	0	0	0	0	1	0	0	0	10401	1145	40	1	1204	1	NEK3	13	52726773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	123583	52726773	62443105	10246	33748											
VPS36	51028	broad.mit.edu	37	chr13	53008987	53008987	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattctcccatcttctttGtgtcatttcctctgataaac	8	18	3	12	0	5	1	1	1	4	0	7	1	6	1	2	0	1	0	2	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53008987G>A	ENST00000378060.4	-	5	409	c.382C>T	c.(382-384)Caa>Taa	p.Q128*	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	128	GLUE C-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CATCTTCTTTGTGTCATTTCC	0.333													A	53008987	G	A	53008987	4	1	364	1	0	0	0	0	0	1	0	0	17306	1386	48	2	818	2	VPS36	13	53008987	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282214	53008987	62160891	10247	33749											
VPS36	51028	broad.mit.edu	37	chr13	53013245	53013245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agacttacctcttcccaattCcagccgcctgttcttcaatg	8	13	5	15	1	3	1	1	0	2	1	5	1	5	1	5	0	2	1	5	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53013245C>T	ENST00000378060.4	-	3	251	c.224G>A	c.(223-225)gGa>gAa	p.G75E	VPS36_ENST00000480923.1_5'UTR	NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	75	GLUE N-terminal.				cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		CTTCCCAATTCCAGCCGCCTG	0.403													T	53013245	C	T	53013245	3	4	364	1	0	0	0	0	1	0	0	0	17306	855	30	2	984	2	VPS36	13	53013245	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4258	53013245	62156633	10248	33750											
HNRNPA1L2	144983	broad.mit.edu	37	chr13	53216587	53216587	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttctgcccgtggacgccGctgaagaagcatcgttaaag	9	11	11	10	4	1	2	0	1	1	1	2	3	1	3	2	1	2	3	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53216587G>A	ENST00000342657.3	+	0	1033				HNRNPA1L2_ENST00000357495.2_De_novo_Start_OutOfFrame|HNRNPA1L2_ENST00000398039.1_De_novo_Start_OutOfFrame	NM_001011724.1	NP_001011724.1	Q32P51	RA1L2_HUMAN	heterogeneous nuclear ribonucleoprotein A1-like 2						mRNA processing|mRNA transport|RNA splicing	cytoplasm|spliceosomal complex	nucleotide binding|RNA binding			cervix(1)|large_intestine(1)|lung(5)	7						CGTGGACGCCGCTGAAGAAGC	0.468													A	53216587	G	A	53216587	1	1	364	1	0	0	0	0	0	0	0	0	7313	1102	38	1		1	HNRNPA1L2	13	53216587	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203342	53216587	61953291	10249	33751											
SUGT1	10910	broad.mit.edu	37	chr13	53227196	53227196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtttttccagagcttCtcggatgccctaatcgacga	9	11	10	11	3	1	1	0	0	1	1	4	5	2	2	2	2	2	2	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53227196C>A	ENST00000310528.8	+	2	109	c.54C>A	c.(52-54)ttC>ttA	p.F18L	SUGT1_ENST00000483074.1_3'UTR|SUGT1_ENST00000343788.6_Missense_Mutation_p.F18L|SUGT1_ENST00000535397.1_5'UTR			Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)						mitosis	kinetochore|ubiquitin ligase complex	binding			kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		TCCAGAGCTTCTCGGATGCCC	0.522											OREG0022432	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	53227196	C	A	53227196	3	1	364	1	0	0	0	0	1	0	0	0	15465	912	32	4	60	4	SUGT1	13	53227196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10609	53227196	61942682	10250	33752											
LECT1	11061	broad.mit.edu	37	chr13	53277790	53277790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgatgactctgcaggcCgaacggcagccttgataatt	10	9	12	10	2	1	3	0	3	1	0	1	4	1	3	2	3	3	3	2	3	2	3	rs78575404	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53277790C>T	ENST00000448904.2	-	7	1052	c.942G>A	c.(940-942)tcG>tcA	p.S314S	LECT1_ENST00000377962.3_Silent_p.S315S	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	315					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		CTCTGCAGGCCGAACGGCAGC	0.493													T	53277790	C	T	53277790	2	4	364	1	0	0	0	0	0	0	0	1	8771	639	23	1		1	LECT1	13	53277790	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50594	53277790	61892088	10251	33753											
LECT1	11061	broad.mit.edu	37	chr13	53282703	53282703	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggattgaaggcttgtgAgtcctcttgaacactgggtc	9	12	12	8	0	2	3	1	3	1	0	4	4	3	4	1	3	1	1	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53282703A>C	ENST00000448904.2	-	6	867	c.757T>G	c.(757-759)Tca>Gca	p.S253A	LECT1_ENST00000377962.3_Missense_Mutation_p.S253A	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	253					cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		AAGGCTTGTGAGTCCTCTTGA	0.468													C	53282703	A	C	53282703	3	2	364	1	0	0	0	0	1	0	0	0	8771	304	11	5	255	5	LECT1	13	53282703	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4913	53282703	61887175	10252	33754											
PCDH8	5100	broad.mit.edu	37	chr13	53418936	53418936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatcccgaggcagtgacGtgctcttacagaaggttgac	10	8	14	9	2	1	3	0	2	1	1	2	6	2	4	1	3	2	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53418936G>A	ENST00000377942.3	-	3	3175	c.2972C>T	c.(2971-2973)aCg>aTg	p.T991M	PCDH8_ENST00000338862.4_Missense_Mutation_p.T894M	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	991					cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AGGCAGTGACGTGCTCTTACA	0.607													A	53418936	G	A	53418936	3	1	364	1	0	0	0	0	1	0	0	0	11593	1145	40	1	244	1	PCDH8	13	53418936	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136233	53418936	61750942	10253	33755											
PCDH8	5100	broad.mit.edu	37	chr13	53422376	53422376	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgttgaattgcttcaTcaggcggaagcttgtgtcac	9	12	12	8	1	3	2	3	1	0	1	3	3	3	3	0	2	3	4	0	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:53422376T>G	ENST00000377942.3	-	1	399	c.196A>C	c.(196-198)Atg>Ctg	p.M66L	PCDH8_ENST00000338862.4_Missense_Mutation_p.M66L	NM_002590.3	NP_002581.2	O95206	PCDH8_HUMAN	protocadherin 8	66	Cadherin 1.				cell-cell signaling|homophilic cell adhesion	cell junction|dendrite|integral to plasma membrane|postsynaptic membrane|presynaptic membrane	calcium ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(23)|ovary(1)|skin(1)|urinary_tract(1)	36		Lung NSC(96;0.0019)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.19e-08)		AATTGCTTCATCAGGCGGAAG	0.657													G	53422376	T	G	53422376	3	3	364	1	0	0	0	0	1	0	0	0	11593	1435	50	5	3028	5	PCDH8	13	53422376	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3440	53422376	61747502	10254	33756											
TDRD3	81550	broad.mit.edu	37	chr13	61060002	61060002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaacattgcaagttacaatgCctgtcaaacctacaaatgat	17	10	5	9	0	1	1	1	1	0	0	1	1	1	1	2	0	6	2	2	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61060002C>T	ENST00000196169.3	+	7	1146	c.358C>T	c.(358-360)Cct>Tct	p.P120S	TDRD3_ENST00000535286.1_Missense_Mutation_p.P213S|TDRD3_ENST00000377894.2_Missense_Mutation_p.P120S|TDRD3_ENST00000377881.2_Missense_Mutation_p.P120S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	120					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AGTTACAATGCCTGTCAAACC	0.353													T	61060002	C	T	61060002	3	4	364	1	0	0	0	0	1	0	0	0	15832	739	26	2	663	2	TDRD3	13	61060002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7637626	61060002	54109876	10255	33757											
TDRD3	81550	broad.mit.edu	37	chr13	61083899	61083899	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttattccttccaggtTgatgagaaagctctgaagca	10	14	8	9	0	2	3	0	3	2	1	5	4	4	3	2	1	2	3	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61083899T>C	ENST00000196169.3	+	9	1370	c.582T>C	c.(580-582)gtT>gtC	p.V194V	TDRD3_ENST00000535286.1_Silent_p.V287V|TDRD3_ENST00000377881.2_Silent_p.V194V|TDRD3_ENST00000377894.2_Silent_p.V194V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	194	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		CCTTCCAGGTTGATGAGAAAG	0.408													C	61083899	T	C	61083899	2	2	364	1	0	0	0	0	0	0	0	1	15832	1799	63	3		3	TDRD3	13	61083899	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23897	61083899	54085979	10256	33758											
PCDH20	64881	broad.mit.edu	37	chr13	61986332	61986332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gataaaccgaggactgttgtCatttttatccaacactgtga	12	13	8	8	1	1	1	1	1	0	0	2	4	2	2	2	1	2	1	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:61986332C>T	ENST00000409186.1	-	5	4005	c.1900G>A	c.(1900-1902)Gac>Aac	p.D634N	PCDH20_ENST00000409204.4_Missense_Mutation_p.D634N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	607	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		GGACTGTTGTCATTTTTATCC	0.438													T	61986332	C	T	61986332	3	4	364	1	0	0	0	0	1	0	0	0	11591	826	29	2	959	2	PCDH20	13	61986332	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	902433	61986332	53183546	10257	33759											
KLHL1	57626	broad.mit.edu	37	chr13	70314679	70314679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataaatagggccttcaagtActgttacacctaaaatatta	16	12	5	8	0	1	0	1	0	0	0	1	0	1	0	2	1	2	2	2	1	10	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70314679A>G	ENST00000377844.4	-	8	2408	c.1649T>C	c.(1648-1650)gTa>gCa	p.V550A	KLHL1_ENST00000545028.1_Missense_Mutation_p.V357A	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	550					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		GCCTTCAAGTACTGTTACACC	0.368													G	70314679	A	G	70314679	3	3	364	1	0	0	0	0	1	0	0	0	8423	391	14	3	613	3	KLHL1	13	70314679	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8328347	70314679	44855199	10258	33760											
KLHL1	57626	broad.mit.edu	37	chr13	70681612	70681612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgatgaagaggaagaggAggaaggcttcttccagaaag	15	5	16	5	1	1	4	0	1	1	3	2	9	2	8	1	5	0	1	1	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:70681612A>G	ENST00000377844.4	-	1	979	c.220T>C	c.(220-222)Tcc>Ccc	p.S74P	ATXN8OS_ENST00000414504.2_RNA|KLHL1_ENST00000545028.1_5'UTR	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	74	Ser-rich.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		gaggaagaggaggaagGCTTC	0.592													G	70681612	A	G	70681612	3	3	364	1	0	0	0	0	1	0	0	0	8423	304	11	3	2070	3	KLHL1	13	70681612	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	366933	70681612	44488266	10259	33761											
DACH1	1602	broad.mit.edu	37	chr13	72204729	72204729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcagagtctgctccaTgttggttattactggcatga	7	16	10	8	1	2	2	1	1	1	1	3	2	3	2	1	2	2	5	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:72204729T>C	ENST00000305425.4	-	3	1513	c.1091A>G	c.(1090-1092)cAt>cGt	p.H364R	DACH1_ENST00000313174.7_Missense_Mutation_p.H364R|DACH1_ENST00000359684.2_Missense_Mutation_p.H364R|DACH1_ENST00000354591.4_Intron	NM_080759.4	NP_542937.2	Q9UI36	DACH1_HUMAN	dachshund homolog 1 (Drosophila)	362	Interaction with SIX6 and HDAC3 (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|nucleotide binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Acute lymphoblastic leukemia(28;0.0503)|Breast(118;0.198)		GBM - Glioblastoma multiforme(99;0.00032)		GTCTGCTCCATGTTGGTTATT	0.398													C	72204729	T	C	72204729	3	2	364	1	0	0	0	0	1	0	0	0	4254	1464	51	3	1071	3	DACH1	13	72204729	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1523117	72204729	42965149	10260	33762											
PIBF1	10464	broad.mit.edu	37	chr13	73401954	73401954	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggagcttagtgttcgCtgtgctcatgaagaggatcg	10	11	13	7	2	1	2	1	1	0	1	3	4	1	4	0	2	3	4	0	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73401954C>A	ENST00000326291.6	+	8	1337	c.999C>A	c.(997-999)cgC>cgA	p.R333R		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	333				R -> C (in Ref. 3; CAA70844).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		TTAGTGTTCGCTGTGCTCATG	0.393													A	73401954	C	A	73401954	2	1	364	1	0	0	0	0	0	0	0	1	11956	784	28	4		4	PIBF1	13	73401954	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1197225	73401954	41767924	10261	33763											
PIBF1	10464	broad.mit.edu	37	chr13	73505372	73505372	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaaaagatctggaacaTcgaaaggaccaagtaacaca	19	8	7	7	1	1	1	0	0	1	1	2	4	1	3	1	2	2	1	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73505372T>G	ENST00000326291.6	+	14	2138	c.1800T>G	c.(1798-1800)caT>caG	p.H600Q		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	600				DLEHRKDQVTQLSQELDR -> RSGTSKGPSNTAFTRSLTE (in Ref. 3; AAQ67659).		centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		ATCTGGAACATCGAAAGGACC	0.313													G	73505372	T	G	73505372	3	3	364	1	0	0	0	0	1	0	0	0	11956	1432	50	5	1850	5	PIBF1	13	73505372	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103418	73505372	41664506	10262	33764											
PIBF1	10464	broad.mit.edu	37	chr13	73547757	73547757	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataaagaaaagtcagctttaCtacagacgaagaatcaaatg	20	8	7	6	1	2	3	2	0	0	3	2	4	2	3	0	0	3	1	0	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73547757C>A	ENST00000326291.6	+	16	2331	c.1993C>A	c.(1993-1995)Cta>Ata	p.L665I	PIBF1_ENST00000489922.1_3'UTR	NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	665						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		GTCAGCTTTACTACAGACGAA	0.254													A	73547757	C	A	73547757	3	1	364	1	0	0	0	0	1	0	0	0	11956	564	20	4	2051	4	PIBF1	13	73547757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42385	73547757	41622121	10263	33765											
KLF5	688	broad.mit.edu	37	chr13	73636832	73636832	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaatagaaggagtaacccCgatttggagaaacgacgcat	16	7	10	8	3	0	2	0	0	0	2	0	6	0	3	2	2	3	2	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:73636832C>A	ENST00000377687.4	+	2	1631	c.1095C>A	c.(1093-1095)ccC>ccA	p.P365P	KLF5_ENST00000539231.1_Silent_p.P274P	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	365					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGAGTAACCCCGATTTGGAGA	0.443													A	73636832	C	A	73636832	2	1	364	1	0	0	0	0	0	0	0	1	8407	639	23	4		4	KLF5	13	73636832	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89075	73636832	41533046	10264	33766											
KLF12	11278	broad.mit.edu	37	chr13	74420243	74420243	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgctgaagatactgatgTgataacagttggggatgagg	12	10	15	4	1	0	6	0	5	0	1	0	7	0	7	0	3	2	2	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:74420243T>G	ENST00000377669.2	-	3	417	c.391A>C	c.(391-393)Aca>Cca	p.T131P	KLF12_ENST00000377666.4_Missense_Mutation_p.T131P|KLF12_ENST00000472022.1_5'UTR	NM_007249.4	NP_009180.3	Q9Y4X4	KLF12_HUMAN	Kruppel-like factor 12	131					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	16		Prostate(6;0.00217)|Breast(118;0.0838)		GBM - Glioblastoma multiforme(99;0.00677)		GATACTGATGTGATAACAGTT	0.488													G	74420243	T	G	74420243	3	3	364	1	0	0	0	0	1	0	0	0	8398	1696	59	5	837	5	KLF12	13	74420243	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	783411	74420243	40749635	10265	33767											
TBC1D4	9882	broad.mit.edu	37	chr13	75873473	75873473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaagtgcctcacctgcagcGacatcatgtcaggtctgtac	10	9	9	13	1	4	0	3	0	1	0	4	1	4	0	2	1	4	2	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75873473G>A	ENST00000377636.3	-	17	3495	c.3149C>T	c.(3148-3150)tCg>tTg	p.S1050L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.S987L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.S214L|TBC1D4_ENST00000478591.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.S1042L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1050	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity	p.S1050L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CACCTGCAGCGACATCATGTC	0.468													A	75873473	G	A	75873473	3	1	364	1	0	0	0	0	1	0	0	0	15722	1059	37	1	767	1	TBC1D4	13	75873473	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1453230	75873473	39296405	10266	33768											
TBC1D4	9882	broad.mit.edu	37	chr13	75887029	75887029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggtcctttttctcccttctCcatcactgttgaaagcaaat	9	15	5	12	0	3	1	1	1	2	0	6	1	4	1	3	1	1	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75887029C>T	ENST00000377636.3	-	13	2574	c.2228G>A	c.(2227-2229)gGa>gAa	p.G743E	TBC1D4_ENST00000377625.2_Missense_Mutation_p.G680E|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.G735E	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	743	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TCTCCCTTCTCCATCACTGTT	0.488													T	75887029	C	T	75887029	3	4	364	1	0	0	0	0	1	0	0	0	15722	855	30	2	1704	2	TBC1D4	13	75887029	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13556	75887029	39282849	10267	33769											
TBC1D4	9882	broad.mit.edu	37	chr13	75911063	75911063	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcaatcttacccttgaGaagatattttccagggagct	10	13	10	8	0	1	2	0	1	1	2	2	4	2	3	2	2	3	2	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:75911063G>T	ENST00000377636.3	-	8	2071	c.1725C>A	c.(1723-1725)ttC>ttA	p.F575L	TBC1D4_ENST00000377625.2_Missense_Mutation_p.F575L|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.F575L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	575						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTACCCTTGAGAAGATATTTT	0.378													T	75911063	G	T	75911063	3	4	364	1	0	0	0	0	1	0	0	0	15722	933	33	4	2227	4	TBC1D4	13	75911063	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24034	75911063	39258815	10268	33770											
UCHL3	7347	broad.mit.edu	37	chr13	76169105	76169105	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgcattagttcatgtaGatgggcatctctatgaatta	11	17	8	5	0	2	2	1	1	1	1	3	2	2	2	0	1	1	4	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76169105G>T	ENST00000377595.3	+	7	559	c.529G>T	c.(529-531)Gat>Tat	p.D177Y	RP11-29G8.3_ENST00000563635.1_RNA|UCHL3_ENST00000606347.1_3'UTR	NM_001270952.1|NM_006002.4	NP_001257881.1|NP_005993.1	P15374	UCHL3_HUMAN	ubiquitin carboxyl-terminal esterase L3 (ubiquitin thiolesterase)	177					ubiquitin-dependent protein catabolic process	cytoplasm	cysteine-type peptidase activity|ubiquitin binding|ubiquitin thiolesterase activity			kidney(1)|large_intestine(2)|lung(3)|skin(1)	7				GBM - Glioblastoma multiforme(99;0.0125)		AGTTCATGTAGATGGGCATCT	0.333													T	76169105	G	T	76169105	3	4	364	1	0	0	0	0	1	0	0	0	17023	942	33	4	555	4	UCHL3	13	76169105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258042	76169105	39000773	10269	33771											
LMO7	4008	broad.mit.edu	37	chr13	76287327	76287327	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctttcaggcagtaacaGagaagaattttgaaacaaaa	18	10	7	6	0	2	3	1	1	1	2	2	4	2	3	0	1	2	2	0	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76287327G>T	ENST00000357063.3	+	3	1495	c.235G>T	c.(235-237)Gag>Tag	p.E79*	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000341547.4_Nonsense_Mutation_p.E79*|LMO7_ENST00000377534.3_Nonsense_Mutation_p.E79*			Q8WWI1	LMO7_HUMAN	LIM domain 7	79	CH.					cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		GGCAGTAACAGAGAAGAATTT	0.303													T	76287327	G	T	76287327	4	4	364	1	0	0	0	0	0	1	0	0	8916	943	33	4	245	4	LMO7	13	76287327	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118222	76287327	38882551	10270	33772											
LMO7	4008	broad.mit.edu	37	chr13	76395515	76395515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgcaaaaagagaggacCgtgtaacaactgaaattcag	16	9	9	7	1	1	2	1	1	0	1	1	4	1	3	1	1	3	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76395515C>T	ENST00000357063.3	+	15	3826	c.2566C>T	c.(2566-2568)Cgt>Tgt	p.R856C	LMO7_ENST00000526202.1_Missense_Mutation_p.R421C|LMO7_ENST00000321797.8_Missense_Mutation_p.R571C|LMO7_ENST00000341547.4_Missense_Mutation_p.R522C|LMO7_ENST00000465261.2_Missense_Mutation_p.R571C|LMO7_ENST00000377534.3_Missense_Mutation_p.R856C			Q8WWI1	LMO7_HUMAN	LIM domain 7	856						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AAGAGAGGACCGTGTAACAAC	0.438													T	76395515	C	T	76395515	3	4	364	1	0	0	0	0	1	0	0	0	8916	652	23	1	2624	1	LMO7	13	76395515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108188	76395515	38774363	10271	33773											
LMO7	4008	broad.mit.edu	37	chr13	76409325	76409325	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccttccctgccatttatacgGcataaaaccctcaatctcac	11	11	3	16	1	2	0	2	0	1	0	4	0	3	0	4	1	3	1	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76409325G>A	ENST00000526202.1	+	13	2195	c.2115G>A	c.(2113-2115)cgG>cgA	p.R705R	LMO7_ENST00000321797.8_Intron|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Intron|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000357063.3_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	1127						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CATTTATACGGCATAAAACCC	0.388													A	76409325	G	A	76409325	2	1	364	1	0	0	0	0	0	0	0	1	8916	1218	42	2		2	LMO7	13	76409325	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13810	76409325	38760553	10272	33774											
LMO7	4008	broad.mit.edu	37	chr13	76416016	76416016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagagcaagagcaaaagCggcttcaggctgaggctgag	14	4	16	7	1	1	4	1	2	0	2	1	5	1	5	0	4	3	5	0	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76416016C>T	ENST00000357063.3	+	25	5344	c.4084C>T	c.(4084-4086)Cgg>Tgg	p.R1362W	LMO7_ENST00000526202.1_Missense_Mutation_p.R954W|LMO7_ENST00000321797.8_Missense_Mutation_p.R1077W|LMO7_ENST00000341547.4_Missense_Mutation_p.R1028W|LMO7_ENST00000465261.2_Missense_Mutation_p.R1077W|LMO7_ENST00000377534.3_Missense_Mutation_p.R1362W			Q8WWI1	LMO7_HUMAN	LIM domain 7	1362						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGAGCAAAAGCGGCTTCAGGC	0.522													T	76416016	C	T	76416016	3	4	364	1	0	0	0	0	1	0	0	0	8916	759	27	1	4182	1	LMO7	13	76416016	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6691	76416016	38753862	10273	33775											
LMO7	4008	broad.mit.edu	37	chr13	76427474	76427474	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacacagtcccccaccccGagaagccattccccttcagc	10	5	5	21	1	1	1	1	0	0	1	3	2	3	1	8	0	2	0	8	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:76427474G>A	ENST00000357063.3	+	29	6027	c.4767G>A	c.(4765-4767)ccG>ccA	p.P1589P	LMO7_ENST00000526202.1_Silent_p.P1181P|LMO7_ENST00000321797.8_Silent_p.P1304P|LMO7_ENST00000341547.4_Silent_p.P1255P|LMO7_ENST00000465261.2_Silent_p.P1304P|LMO7_ENST00000377534.3_Silent_p.P1589P			Q8WWI1	LMO7_HUMAN	LIM domain 7	1589						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CCCCCACCCCGAGAAGCCATT	0.577													A	76427474	G	A	76427474	2	1	364	1	0	0	0	0	0	0	0	1	8916	1045	37	1		1	LMO7	13	76427474	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11458	76427474	38742404	10274	33776											
CLN5	1203	broad.mit.edu	37	chr13	77569213	77569213	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaggcgctttgacttccgTccaaaacctgatccttattg	9	14	7	11	2	0	2	0	2	0	0	3	2	3	2	4	1	1	1	4	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77569213T>C	ENST00000377453.3	+	2	1628	c.336T>C	c.(334-336)cgT>cgC	p.R112R	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	63					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		TTGACTTCCGTCCAAAACCTG	0.363													C	77569213	T	C	77569213	2	2	364	1	0	0	0	0	0	0	0	1	3575	1654	58	3		3	CLN5	13	77569213	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1141739	77569213	37600665	10275	33777											
FBXL3	26224	broad.mit.edu	37	chr13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgcgcaaatgttctaatCgaacatgtttttcagaagac	14	12	7	8	2	2	2	1	0	1	2	3	3	2	2	0	0	2	3	0	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418													T	77581815	C	T	77581815	3	4	364	1	0	0	0	0	1	0	0	0	5769	884	31	1	538	1	FBXL3	13	77581815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12602	77581815	37588063	10276	33778											
MYCBP2	23077	broad.mit.edu	37	chr13	77631174	77631174	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatccttgggccaagccatcGattttctaatactcgccgac	9	12	7	13	3	1	0	0	0	1	0	4	2	2	0	4	1	2	0	4	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77631174G>A	ENST00000407578.2	-	79	13650	c.13384C>T	c.(13384-13386)Cga>Tga	p.R4462*	MYCBP2_ENST00000544440.2_Nonsense_Mutation_p.R4424*|MYCBP2_ENST00000357337.6_Nonsense_Mutation_p.R4424*	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CCAAGCCATCGATTTTCTAAT	0.333													A	77631174	G	A	77631174	4	1	364	1	0	0	0	0	0	1	0	0	10094	1066	37	1	672	1	MYCBP2	13	77631174	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49359	77631174	37538704	10277	33779											
MYCBP2	23077	broad.mit.edu	37	chr13	77632512	77632512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggatggccacaaggatgCgtcttactacaggctatctt	10	11	10	10	1	2	0	0	0	2	0	2	2	2	2	1	4	3	1	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77632512C>T	ENST00000407578.2	-	78	13436	c.13170G>A	c.(13168-13170)acG>acA	p.T4390T	MYCBP2_ENST00000544440.2_Silent_p.T4352T|MYCBP2_ENST00000357337.6_Silent_p.T4352T	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	4352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CACAAGGATGCGTCTTACTAC	0.428													T	77632512	C	T	77632512	2	4	364	1	0	0	0	0	0	0	0	1	10094	755	27	1		1	MYCBP2	13	77632512	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1338	77632512	37537366	10278	33780											
MYCBP2	23077	broad.mit.edu	37	chr13	77661658	77661658	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttattttcttcatcCtcttcttcctctggttccac	3	22	3	13	0	5	0	1	0	4	0	8	0	8	0	3	1	0	2	3	1	1	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77661658C>A	ENST00000407578.2	-	62	11102	c.10836G>T	c.(10834-10836)gaG>gaT	p.E3612D	MYCBP2-AS1_ENST00000450627.2_RNA|MYCBP2_ENST00000544440.2_Missense_Mutation_p.E3574D|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E3574D|MYCBP2-AS1_ENST00000448470.2_RNA|MYCBP2-AS1_ENST00000422231.2_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3574					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTTCTTCATCCTCTTCTTCCT	0.363													A	77661658	C	A	77661658	3	1	364	1	0	0	0	0	1	0	0	0	10094	680	24	4	3288	4	MYCBP2	13	77661658	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29146	77661658	37508220	10279	33781											
MYCBP2	23077	broad.mit.edu	37	chr13	77670496	77670496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtatttttctctacagCgatcacataccagataccaa	13	11	7	10	1	2	1	1	0	1	1	3	3	2	2	2	2	4	1	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77670496C>T	ENST00000407578.2	-	57	10171	c.9905G>A	c.(9904-9906)cGc>cAc	p.R3302H	MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3264H|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3264H	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3264					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TTCTCTACAGCGATCACATAC	0.433													T	77670496	C	T	77670496	3	4	364	1	0	0	0	0	1	0	0	0	10094	768	27	1	4239	1	MYCBP2	13	77670496	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8838	77670496	37499382	10280	33782											
MYCBP2	23077	broad.mit.edu	37	chr13	77671996	77671996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggtgcaatattaaacataTtcagtgcagatgatatttct	13	14	9	5	0	2	2	1	1	1	1	2	2	2	2	0	2	3	2	0	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77671996T>C	ENST00000407578.2	-	56	9559	c.9293A>G	c.(9292-9294)aAt>aGt	p.N3098S	MYCBP2_ENST00000544440.2_Missense_Mutation_p.N3060S|MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N3060S	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATTAAACATATTCAGTGCAGA	0.353													C	77671996	T	C	77671996	3	2	364	1	0	0	0	0	1	0	0	0	10094	1493	52	3	4855	3	MYCBP2	13	77671996	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1500	77671996	37497882	10281	33783											
MYCBP2	23077	broad.mit.edu	37	chr13	77755901	77755901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactagtgttgagtcgttctCtgtactaacttgtttaacaa	11	16	7	7	1	1	1	0	1	1	0	3	1	1	1	0	0	4	4	0	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:77755901C>T	ENST00000407578.2	-	33	5142	c.4876G>A	c.(4876-4878)Gag>Aag	p.E1626K	MYCBP2_ENST00000544440.2_Missense_Mutation_p.E1588K|MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000357337.6_Missense_Mutation_p.E1588K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	1588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGTCGTTCTCTGTACTAACT	0.423													T	77755901	C	T	77755901	3	4	364	1	0	0	0	0	1	0	0	0	10094	922	32	2	9364	2	MYCBP2	13	77755901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83905	77755901	37413977	10282	33784											
SLAIN1	122060	broad.mit.edu	37	chr13	78327371	78327371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtatgcctaacctagcccGgatgccaagtacaactgcca	13	7	8	13	1	0	0	0	0	0	0	0	1	0	1	5	1	7	2	5	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78327371G>A	ENST00000466548.1	+	6	1252	c.1226G>A	c.(1225-1227)cGg>cAg	p.R409Q	SLAIN1_ENST00000351546.3_Missense_Mutation_p.R146Q|SLAIN1_ENST00000488699.1_Missense_Mutation_p.R267Q|SLAIN1_ENST00000418532.1_Missense_Mutation_p.R190Q|SLAIN1_ENST00000314070.5_Missense_Mutation_p.R32Q|SLAIN1_ENST00000267219.8_Missense_Mutation_p.R190Q|SLAIN1_ENST00000358679.3_Missense_Mutation_p.R146Q	NM_001242868.1	NP_001229797.1	Q8ND83	SLAI1_HUMAN	SLAIN motif family, member 1	409										breast(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0853)		AACCTAGCCCGGATGCCAAGT	0.413													A	78327371	G	A	78327371	3	1	364	1	0	0	0	0	1	0	0	0	14459	1116	39	1	583	1	SLAIN1	13	78327371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	571470	78327371	36842507	10283	33785											
EDNRB	1910	broad.mit.edu	37	chr13	78492476	78492476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgtggcggagatcctGccgtcctgtctcctttaggc	3	12	14	12	3	1	1	0	0	1	1	4	2	3	1	4	4	2	0	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:78492476G>A	ENST00000377211.4	-	2	655	c.503C>T	c.(502-504)gCa>gTa	p.A168V	EDNRB_ENST00000334286.5_Missense_Mutation_p.A78V|EDNRB_ENST00000446573.1_Missense_Mutation_p.A78V|EDNRB_ENST00000475537.1_5'UTR	NM_001201397.1	NP_001188326.1	P24530	EDNRB_HUMAN	endothelin receptor type B	78					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|enteric nervous system development|enteric smooth muscle cell differentiation|macrophage chemotaxis|negative regulation of adenylate cyclase activity|negative regulation of cellular protein metabolic process|negative regulation of neuron maturation|negative regulation of transcription from RNA polymerase II promoter|vein smooth muscle contraction	integral to plasma membrane	endothelin-B receptor activity|peptide hormone binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)	CGGAGATCCTGCCGTCCTGTC	0.582													A	78492476	G	A	78492476	3	1	364	1	0	0	0	0	1	0	0	0	4959	1319	46	2	1244	2	EDNRB	13	78492476	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165105	78492476	36677402	10284	33786											
RNF219	79596	broad.mit.edu	37	chr13	79219113	79219113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatacatggttgttgatgCatatgacaggctgacgtacc	13	11	10	7	1	0	3	0	3	0	0	0	3	0	3	1	2	3	5	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79219113C>T	ENST00000282003.6	-	2	150	c.92G>A	c.(91-93)tGc>tAc	p.C31Y		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	31							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		GTTGTTGATGCATATGACAGG	0.378													T	79219113	C	T	79219113	3	4	364	1	0	0	0	0	1	0	0	0	13573	710	25	2	2108	2	RNF219	13	79219113	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	726637	79219113	35950765	10285	33787											
RNF219	79596	broad.mit.edu	37	chr13	79233233	79233233	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagagtgagcgacaatgtaAcattctgcacggtctgagcc	11	8	12	10	2	2	3	0	2	2	1	2	4	2	3	1	1	4	3	1	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79233233A>C	ENST00000282003.6	-	1	81	c.23T>G	c.(22-24)gTt>gGt	p.V8G		NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	8							zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CGACAATGTAACATTCTGCAC	0.577													C	79233233	A	C	79233233	3	2	364	1	0	0	0	0	1	0	0	0	13573	43	2	5	2181	5	RNF219	13	79233233	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14120	79233233	35936645	10286	33788											
RBM26	64062	broad.mit.edu	37	chr13	79911338	79911338	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatgaccaggcacacctcGccctcgccctcgccccctgc	6	5	8	22	3	0	1	0	1	0	0	3	1	0	1	6	1	2	2	6	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:79911338G>T	ENST00000438737.2	-	19	3072	c.2632C>A	c.(2632-2634)Cga>Aga	p.R878R	RBM26_ENST00000267229.7_Silent_p.R851R|RBM26_ENST00000438724.1_Silent_p.R854R			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	878					mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCACACCTCGCCCTCGCCCT	0.562													T	79911338	G	T	79911338	2	4	364	1	0	0	0	0	0	0	0	1	13214	1095	38	4		4	RBM26	13	79911338	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	678105	79911338	35258540	10287	33789											
SLITRK6	84189	broad.mit.edu	37	chr13	86369036	86369036	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgtcactgtgttcttGcttaacttttgtatccattg	6	20	6	9	0	4	0	2	0	2	0	5	0	5	0	1	0	2	3	1	0	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369036G>A	ENST00000400286.2	-	2	2206	c.1608C>T	c.(1606-1608)agC>agT	p.S536S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	536	LRRCT 2.					integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		CTGTGTTCTTGCTTAACTTTT	0.463													A	86369036	G	A	86369036	2	1	364	1	0	0	0	0	0	0	0	1	14841	1310	46	2		2	SLITRK6	13	86369036	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6457698	86369036	28800842	10288	33790											
SLITRK6	84189	broad.mit.edu	37	chr13	86369282	86369282	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtttaggcattggattaaaGgttcctggcagtatttcctt	9	16	10	6	0	0	0	0	0	0	0	2	1	2	1	2	4	0	5	2	4	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86369282G>A	ENST00000400286.2	-	2	1960	c.1362C>T	c.(1360-1362)acC>acT	p.T454T		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	454						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		TTGGATTAAAGGTTCCTGGCA	0.358													A	86369282	G	A	86369282	2	1	364	1	0	0	0	0	0	0	0	1	14841	987	35	2		2	SLITRK6	13	86369282	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246	86369282	28800596	10289	33791											
SLITRK6	84189	broad.mit.edu	37	chr13	86370399	86370399	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtaagcccagaaaagtcaTttgtgtgaagcatcgtcaag	13	10	11	7	1	2	2	2	1	0	1	3	2	2	2	1	1	2	2	1	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:86370399T>C	ENST00000400286.2	-	2	843	c.245A>G	c.(244-246)aAt>aGt	p.N82S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	82						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		AGAAAAGTCATTTGTGTGAAG	0.388													C	86370399	T	C	86370399	3	2	364	1	0	0	0	0	1	0	0	0	14841	1493	52	3	2284	3	SLITRK6	13	86370399	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1117	86370399	28799479	10290	33792											
SLITRK5	26050	broad.mit.edu	37	chr13	88327968	88327968	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaattacactggggcttcaAttttgcatctaggtagcaat	11	14	8	8	0	3	0	2	0	1	0	3	0	3	0	0	3	3	4	0	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:88327968A>C	ENST00000325089.6	+	2	544	c.325A>C	c.(325-327)Att>Ctt	p.I109L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	109						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TGGGGCTTCAATTTTGCATCT	0.453													C	88327968	A	C	88327968	3	2	364	1	0	0	0	0	1	0	0	0	14840	101	4	5	327	5	SLITRK5	13	88327968	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1957569	88327968	26841910	10291	33793											
GPC5	2262	broad.mit.edu	37	chr13	92345665	92345665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcattaaccctggtgtgActgacagttccctggaatac	10	11	8	12	0	1	2	1	2	0	0	2	3	2	3	3	2	2	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92345665A>G	ENST00000377067.3	+	3	922	c.550A>G	c.(550-552)Act>Gct	p.T184A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	184						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CCCTGGTGTGACTGACAGTTC	0.443													G	92345665	A	G	92345665	3	3	364	1	0	0	0	0	1	0	0	0	6655	275	10	3	560	3	GPC5	13	92345665	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4017697	92345665	22824213	10292	33794											
GPC5	2262	broad.mit.edu	37	chr13	92797193	92797193	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgatgatgaagatggttgCgggggatcaggaagtggaga	11	9	19	2	1	1	5	1	3	0	2	1	8	1	7	0	5	1	1	0	5	2	1	rs147244156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:92797193C>T	ENST00000377067.3	+	7	1884	c.1512C>T	c.(1510-1512)tgC>tgT	p.C504C		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	504						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				AAGATGGTTGCGGGGGATCAG	0.443													T	92797193	C	T	92797193	2	4	364	1	0	0	0	0	0	0	0	1	6655	776	27	1		1	GPC5	13	92797193	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451528	92797193	22372685	10293	33795											
TGDS	23483	broad.mit.edu	37	chr13	95230269	95230269	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatacataccagttgtattAgttctttggcaagctggaca	12	13	9	7	0	1	1	0	0	1	1	1	2	1	2	1	2	3	5	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95230269A>G	ENST00000261296.5	-	9	935	c.815T>C	c.(814-816)cTa>cCa	p.L272P		NM_014305.2	NP_055120.1	O95455	TGDS_HUMAN	TDP-glucose 4,6-dehydratase	272					cellular metabolic process		coenzyme binding|dTDP-glucose 4,6-dehydratase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	8	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					CAGTTGTATTAGTTCTTTGGC	0.348													G	95230269	A	G	95230269	3	3	364	1	0	0	0	0	1	0	0	0	15914	420	15	3	253	3	TGDS	13	95230269	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2433076	95230269	19939609	10294	33796											
ABCC4	10257	broad.mit.edu	37	chr13	95724085	95724085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcaaggtctgtgtattcaAtgaccctttctactgagatc	9	16	7	9	0	4	2	2	2	2	1	5	3	4	2	1	1	1	1	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95724085A>G	ENST00000376887.4	-	25	3155	c.3041T>C	c.(3040-3042)aTt>aCt	p.I1014T	ABCC4_ENST00000474158.1_5'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.I967T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1014					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TGTGTATTCAATGACCCTTTC	0.433													G	95724085	A	G	95724085	3	3	364	1	0	0	0	0	1	0	0	0	55	101	4	3	964	3	ABCC4	13	95724085	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	493816	95724085	19445793	10295	33797											
ABCC4	10257	broad.mit.edu	37	chr13	95735409	95735409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttgtagattccaggcGcttcacatctcttgacgttt	7	15	7	12	2	3	2	2	1	1	1	5	2	4	2	1	1	0	3	1	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:95735409G>A	ENST00000376887.4	-	21	2785	c.2671C>T	c.(2671-2673)Cgc>Tgc	p.R891C	ABCC4_ENST00000412704.1_Missense_Mutation_p.R844C	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	891	ABC transmembrane type-1 2.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	GATTCCAGGCGCTTCACATCT	0.438													A	95735409	G	A	95735409	3	1	364	1	0	0	0	0	1	0	0	0	55	1087	38	1	1350	1	ABCC4	13	95735409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11324	95735409	19434469	10296	33798											
DZIP1	22873	broad.mit.edu	37	chr13	96237064	96237064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaatgtggttcatttttcGcaggtggaggttccttctgt	7	16	11	7	1	2	0	1	0	1	0	4	1	3	1	1	4	0	3	1	4	2	5	rs149105659		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96237064G>A	ENST00000347108.3	-	20	2882	c.2450C>T	c.(2449-2451)gCg>gTg	p.A817V	DZIP1_ENST00000361156.3_Missense_Mutation_p.A798V|DZIP1_ENST00000361396.2_Missense_Mutation_p.A798V|DZIP1_ENST00000376829.2_Missense_Mutation_p.A817V			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	817					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCATTTTTCGCAGGTGGAGG	0.458													A	96237064	G	A	96237064	3	1	364	1	0	0	0	0	1	0	0	0	4902	1087	38	1	161	1	DZIP1	13	96237064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	501655	96237064	18932814	10297	33799											
DZIP1	22873	broad.mit.edu	37	chr13	96239874	96239874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcactgtgttcttccCgaagctgcccttgttttgtg	4	18	8	11	1	2	0	1	0	1	0	3	1	3	0	2	0	2	3	2	0	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96239874C>T	ENST00000347108.3	-	18	2569	c.2137G>A	c.(2137-2139)Ggg>Agg	p.G713R	DZIP1_ENST00000361156.3_Missense_Mutation_p.G694R|DZIP1_ENST00000361396.2_Missense_Mutation_p.G694R|DZIP1_ENST00000376829.2_Missense_Mutation_p.G713R			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	713					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding	p.G713W(1)|p.G694W(1)		endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			GTGTTCTTCCCGAAGCTGCCC	0.572													T	96239874	C	T	96239874	3	4	364	1	0	0	0	0	1	0	0	0	4902	652	23	1	482	1	DZIP1	13	96239874	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2810	96239874	18930004	10298	33800											
DZIP1	22873	broad.mit.edu	37	chr13	96241408	96241408	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatccctgtcaatactcacGtaatagttgaagactttctg	11	13	6	11	1	3	2	2	1	1	1	4	2	4	2	2	0	1	2	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241408G>A	ENST00000347108.3	-	17	2459	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	DZIP1_ENST00000361156.3_Splice_Site_p.T657M|DZIP1_ENST00000361396.2_Splice_Site_p.T657M|DZIP1_ENST00000376829.2_Splice_Site_p.T676M			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1	676					germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			CAATACTCACGTAATAGTTGA	0.303													A	96241408	G	A	96241408	5	1	364	1	0	0	0	0	0	0	1	0	4902	1159	40	1	596	1	DZIP1	13	96241408	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1534	96241408	18928470	10299	33801											
DZIP1	22873	broad.mit.edu	37	chr13	96241463	96241464	+	Splice_Site	INS	-	-	A																															atgacatttttcttaattctINSaaaaaaacaacagaaaaata																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96241463_96241464insA	ENST00000347108.3	-	17	2406		c.e17-2		DZIP1_ENST00000361156.3_Splice_Site|DZIP1_ENST00000376829.2_Splice_Site|DZIP1_ENST00000361396.2_Splice_Site			Q86YF9	DZIP1_HUMAN	DAZ interacting zinc finger protein 1						germ cell development|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(20)|lung(11)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	38	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.141)			TTCTTAATTCTAAAAAAACAAC	0.277													A	96241464	-	A	96241463	8	5	364	1	0	1	1	0	0	0	1	0	4902	1536	53	0	651	0	DZIP1	13	96241463	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	55	96241463	18928415	10300	33802											
DNAJC3	5611	broad.mit.edu	37	chr13	96377474	96377474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattactcaaacaaggaaaaCttgatgaagcagaagatgat	19	9	8	5	0	1	5	1	3	0	2	1	6	1	6	0	1	4	1	0	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96377474C>T	ENST00000602402.1	+	4	478	c.361C>T	c.(361-363)Ctt>Ttt	p.L121F	DNAJC3_ENST00000376795.6_Missense_Mutation_p.L121F	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	121					protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ACAAGGAAAACTTGATGAAGC	0.299													T	96377474	C	T	96377474	3	4	364	1	0	0	0	0	1	0	0	0	4686	565	20	2	375	2	DNAJC3	13	96377474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136011	96377474	18792404	10301	33803											
DNAJC3	5611	broad.mit.edu	37	chr13	96439386	96439386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcattgatatagcagctgCtaaagaagtcctctctgatc	11	13	8	9	0	2	3	1	2	1	1	5	3	3	3	1	0	3	4	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96439386C>T	ENST00000602402.1	+	11	1451	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V	DNAJC3_ENST00000376795.6_Missense_Mutation_p.A394V	NM_006260.4	NP_006251.1	Q13217	DNJC3_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 3	445	J.				protein folding|response to unfolded protein|response to virus		heat shock protein binding|protein kinase inhibitor activity|unfolded protein binding			NS(1)|breast(1)|kidney(4)|large_intestine(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.126)			ATAGCAGCTGCTAAAGAAGTC	0.413													T	96439386	C	T	96439386	3	4	364	1	0	0	0	0	1	0	0	0	4686	797	28	2	1376	2	DNAJC3	13	96439386	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61912	96439386	18730492	10302	33804											
UGGT2	55757	broad.mit.edu	37	chr13	96624864	96624864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaacatccatatcaacaCgaaggccatttataaataga	19	9	4	9	1	1	1	1	0	0	1	2	2	2	1	2	1	2	0	2	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:96624864C>T	ENST00000376747.3	-	11	1224	c.1154G>A	c.(1153-1155)cGt>cAt	p.R385H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	385					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATATCAACACGAAGGCCATT	0.313													T	96624864	C	T	96624864	3	4	364	1	0	0	0	0	1	0	0	0	17044	536	19	1	3512	1	UGGT2	13	96624864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185478	96624864	18545014	10303	33805											
IPO5	3843	broad.mit.edu	37	chr13	98645166	98645166	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcggtaaatgactcgtgctaCcagaatgatgattctgtcct	10	12	10	9	2	1	4	0	3	1	1	3	4	2	4	2	1	2	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98645166C>T	ENST00000261574.5	+	10	924	c.744C>T	c.(742-744)taC>taT	p.Y248Y	IPO5_ENST00000490680.1_Silent_p.Y230Y|IPO5_ENST00000539640.1_Silent_p.Y105Y	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	230					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						ACTCGTGCTACCAGAATGATG	0.408													T	98645166	C	T	98645166	2	4	364	1	0	0	0	0	0	0	0	1	7854	518	18	2		2	IPO5	13	98645166	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2020302	98645166	16524712	10304	33806											
IPO5	3843	broad.mit.edu	37	chr13	98652797	98652797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttatgtgtttagcaatGcagttgcaggcgagagtgct	8	14	13	6	1	0	1	0	0	0	1	0	2	0	1	0	1	4	7	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98652797G>A	ENST00000261574.5	+	13	1240	c.1060G>A	c.(1060-1062)Gca>Aca	p.A354T	IPO5_ENST00000490680.1_Missense_Mutation_p.A336T|IPO5_ENST00000539640.1_Missense_Mutation_p.A211T	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	336	Ran-GTP binding (By similarity).				interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTTAGCAATGCAGTTGCAGG	0.368													A	98652797	G	A	98652797	3	1	364	1	0	0	0	0	1	0	0	0	7854	1319	46	2	1102	2	IPO5	13	98652797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7631	98652797	16517081	10305	33807											
IPO5	3843	broad.mit.edu	37	chr13	98654812	98654812	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggaattctaaatgagatCgtaaattttgttttactttt	13	18	7	3	1	1	1	0	1	1	1	2	4	1	2	0	1	1	2	0	1	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98654812C>T	ENST00000261574.5	+	14	1434	c.1254C>T	c.(1252-1254)atC>atT	p.I418I	IPO5_ENST00000490680.1_Silent_p.I400I|IPO5_ENST00000539640.1_Silent_p.I275I	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	400					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TAAATGAGATCGTAAATTTTG	0.393													T	98654812	C	T	98654812	2	4	364	1	0	0	0	0	0	0	0	1	7854	874	31	1		1	IPO5	13	98654812	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2015	98654812	16515066	10306	33808											
IPO5	3843	broad.mit.edu	37	chr13	98673358	98673358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagatccttgtgccaaaCgtctggccaatgtcgttcgc	9	11	10	11	3	1	2	0	1	1	1	4	2	2	2	3	1	2	1	3	1	3	2	rs139976558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98673358C>T	ENST00000261574.5	+	28	3412	c.3232C>T	c.(3232-3234)Cgt>Tgt	p.R1078C	IPO5_ENST00000490680.1_Missense_Mutation_p.R1060C|IPO5_ENST00000539640.1_Missense_Mutation_p.R935C	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	1060					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						TTGTGCCAAACGTCTGGCCAA	0.418													T	98673358	C	T	98673358	3	4	364	1	0	0	0	0	1	0	0	0	7854	536	19	1	3334	1	IPO5	13	98673358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18546	98673358	16496520	10307	33809											
RNF113B	140432	broad.mit.edu	37	chr13	98828639	98828639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagcagcgcggggtggcccgGaagtgctccagcgcgcagct	6	5	17	13	5	0	0	0	0	0	0	1	1	1	1	2	4	5	4	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98828639G>A	ENST00000267291.6	-	1	880	c.852C>T	c.(850-852)ttC>ttT	p.F284F	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	284							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			GGGTGGCCCGGAAGTGCTCCA	0.557													A	98828639	G	A	98828639	2	1	364	1	0	0	0	0	0	0	0	1	13519	1165	41	2		2	RNF113B	13	98828639	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155281	98828639	16341239	10308	33810											
RNF113B	140432	broad.mit.edu	37	chr13	98829411	98829411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcctgcagcccctttcCgtccaggctttttgaagagg	6	11	12	12	1	0	3	0	2	0	1	2	3	2	3	5	3	2	2	5	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:98829411C>T	ENST00000267291.6	-	1	108	c.80G>A	c.(79-81)cGg>cAg	p.R27Q	FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376586.2_Intron|FARP1_ENST00000319562.6_Intron|FARP1_ENST00000376581.5_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	27							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			AGCCCCTTTCCGTCCAGGCTT	0.647													T	98829411	C	T	98829411	3	4	364	1	0	0	0	0	1	0	0	0	13519	652	23	1	896	1	RNF113B	13	98829411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	772	98829411	16340467	10309	33811											
FARP1	10160	broad.mit.edu	37	chr13	99030088	99030088	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcaggtacctgttcgcgCtgcaggtgaagcaggacttg	7	10	14	10	3	0	1	0	1	0	0	2	2	0	2	1	3	3	6	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99030088C>T	ENST00000376586.2	+	6	748	c.412C>T	c.(412-414)Ctg>Ttg	p.L138L	FARP1_ENST00000595437.1_Silent_p.L138L|FARP1_ENST00000319562.6_Silent_p.L138L			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	138	FERM.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			CCTGTTCGCGCTGCAGGTGAA	0.547													T	99030088	C	T	99030088	2	4	364	1	0	0	0	0	0	0	0	1	5725	796	28	2		2	FARP1	13	99030088	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200677	99030088	16139790	10310	33812											
FARP1	10160	broad.mit.edu	37	chr13	99047515	99047515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccttacatttggagaagGtgccgaatctccagggggcc	9	8	13	11	1	1	1	0	0	1	1	2	3	1	1	4	4	3	0	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047515G>A	ENST00000376586.2	+	13	1535	c.1199G>A	c.(1198-1200)gGt>gAt	p.G400D	FARP1_ENST00000595437.1_Missense_Mutation_p.G400D|FARP1_ENST00000319562.6_Missense_Mutation_p.G400D			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	400					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			TTTGGAGAAGGTGCCGAATCT	0.617													A	99047515	G	A	99047515	3	1	364	1	0	0	0	0	1	0	0	0	5725	1261	44	2	1468	2	FARP1	13	99047515	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17427	99047515	16122363	10311	33813											
FARP1	10160	broad.mit.edu	37	chr13	99047635	99047635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgggtaacaagcaggCggacggagccgcctcggcgc	7	2	16	16	7	0	0	0	0	0	0	1	2	0	2	4	5	3	2	4	5	2	1	rs149057508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99047635C>T	ENST00000376586.2	+	13	1655	c.1319C>T	c.(1318-1320)gCg>gTg	p.A440V	FARP1_ENST00000595437.1_Missense_Mutation_p.A440V|FARP1_ENST00000319562.6_Missense_Mutation_p.A440V			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	440					regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AACAAGCAGGCGGACGGAGCC	0.682													T	99047635	C	T	99047635	3	4	364	1	0	0	0	0	1	0	0	0	5725	768	27	1	1588	1	FARP1	13	99047635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120	99047635	16122243	10312	33814											
STK24	8428	broad.mit.edu	37	chr13	99127180	99127180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcagctggccagccacGccaaagtccgccagcttcac	8	7	9	17	2	3	0	2	0	1	0	4	0	4	0	5	1	3	2	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99127180G>A	ENST00000397517.2	-	5	568	c.492C>T	c.(490-492)ggC>ggT	p.G164G	STK24_ENST00000376547.3_Silent_p.G176G|STK24_ENST00000539966.1_Silent_p.G145G	NM_001032296.2	NP_001027467.2	Q9Y6E0	STK24_HUMAN	serine/threonine kinase 24	176	Protein kinase.				cellular component disassembly involved in apoptosis|signal transduction	cytosol|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	17	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GGCCAGCCACGCCAAAGTCCG	0.597													A	99127180	G	A	99127180	2	1	364	1	0	0	0	0	0	0	0	1	15389	1074	38	1		1	STK24	13	99127180	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79545	99127180	16042698	10313	33815											
DOCK9	23348	broad.mit.edu	37	chr13	99457448	99457448	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatgcatacttagaatccaGatccttagggttgaccttta	11	14	8	8	0	0	3	0	1	0	2	2	3	2	3	3	1	2	3	3	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99457448G>A	ENST00000376460.1	-	52	5652	c.5572C>T	c.(5572-5574)Ctg>Ttg	p.L1858L	DOCK9_ENST00000339416.2_Silent_p.L1845L	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1859	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTAGAATCCAGATCCTTAGGG	0.413													A	99457448	G	A	99457448	2	1	364	1	0	0	0	0	0	0	0	1	4733	933	33	2		2	DOCK9	13	99457448	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	330268	99457448	15712430	10314	33816											
DOCK9	23348	broad.mit.edu	37	chr13	99479116	99479116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatattctgccactagggctGttacgtggacatagcacatt	10	12	10	9	1	1	0	0	0	1	0	1	2	1	1	1	2	3	3	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99479116G>A	ENST00000376460.1	-	44	5002	c.4922C>T	c.(4921-4923)aCa>aTa	p.T1641I	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.T1642I	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1642	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CACTAGGGCTGTTACGTGGAC	0.393													A	99479116	G	A	99479116	3	1	364	1	0	0	0	0	1	0	0	0	4733	1377	48	2	1332	2	DOCK9	13	99479116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21668	99479116	15690762	10315	33817											
DOCK9	23348	broad.mit.edu	37	chr13	99481710	99481710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgctccttcatctgggCggtggccattagcaccgtgc	5	11	11	14	2	3	0	2	0	1	0	4	0	4	0	3	3	3	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99481710C>T	ENST00000376460.1	-	43	4827	c.4747G>A	c.(4747-4749)Gcc>Acc	p.A1583T	DOCK9_ENST00000448493.2_3'UTR|DOCK9_ENST00000339416.2_Missense_Mutation_p.A1584T	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	1584	DHR-2.				blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTCATCTGGGCGGTGGCCATT	0.547													T	99481710	C	T	99481710	3	4	364	1	0	0	0	0	1	0	0	0	4733	768	27	1	1511	1	DOCK9	13	99481710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2594	99481710	15688168	10316	33818											
DOCK9	23348	broad.mit.edu	37	chr13	99532922	99532922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatggctcagccttatacGcgtactttgaagaaaagaga	14	10	9	8	2	1	3	1	1	0	2	1	4	1	3	1	1	3	2	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:99532922G>A	ENST00000376460.1	-	26	2830	c.2750C>T	c.(2749-2751)gCg>gTg	p.A917V	DOCK9_ENST00000442173.1_Missense_Mutation_p.A917V|DOCK9_ENST00000448493.2_Missense_Mutation_p.A929V|DOCK9_ENST00000339416.2_Missense_Mutation_p.A918V	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	918					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AGCCTTATACGCGTACTTTGA	0.463													A	99532922	G	A	99532922	3	1	364	1	0	0	0	0	1	0	0	0	4733	1087	38	1	3641	1	DOCK9	13	99532922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51212	99532922	15636956	10317	33819											
CLYBL	171425	broad.mit.edu	37	chr13	100515249	100515249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacttctgattttagtttgCagacaaattttcattccact	11	17	4	9	0	2	2	1	1	1	1	3	2	3	2	1	0	1	2	1	0	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100515249C>T	ENST00000376360.1	+	4	470	c.443C>T	c.(442-444)gCa>gTa	p.A148V	CLYBL_ENST00000376355.3_Intron|CLYBL_ENST00000444838.2_Intron|CLYBL_ENST00000376354.1_Intron|CLYBL_ENST00000339105.4_Missense_Mutation_p.A148V			Q8N0X4	CLYBL_HUMAN	citrate lyase beta like	148					cellular aromatic compound metabolic process	citrate lyase complex|mitochondrion	citrate (pro-3S)-lyase activity|metal ion binding			NS(1)|kidney(6)|large_intestine(6)|lung(10)|skin(2)	25	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TTTTAGTTTGCAGACAAATTT	0.358													T	100515249	C	T	100515249	3	4	364	1	0	0	0	0	1	0	0	0	3604	710	25	2	457	2	CLYBL	13	100515249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	982327	100515249	14654629	10318	33820											
ZIC5	85416	broad.mit.edu	37	chr13	100617767	100617767	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacgtaccactcattgaggTtggtcacctgaggggacaga	12	8	12	9	1	2	3	2	2	0	1	2	4	2	4	2	4	2	2	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617767T>C	ENST00000267294.4	-	2	2089	c.1856A>G	c.(1855-1857)aAc>aGc	p.N619S		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	619					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CTCATTGAGGTTGGTCACCTG	0.602													C	100617767	T	C	100617767	3	2	364	1	0	0	0	0	1	0	0	0	17783	1725	60	3	139	3	ZIC5	13	100617767	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	102518	100617767	14552111	10319	33821											
ZIC5	85416	broad.mit.edu	37	chr13	100617819	100617819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggctgggtccagcaCaggggacaagggggcgccca	8	4	16	13	1	0	0	0	0	0	0	2	1	2	1	3	6	1	2	3	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100617819C>T	ENST00000267294.4	-	2	2037	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	602					cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGGTCCAGCACAGGGGACAAG	0.617													T	100617819	C	T	100617819	3	4	364	1	0	0	0	0	1	0	0	0	17783	478	17	2	191	2	ZIC5	13	100617819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	100617819	14552059	10320	33822											
ZIC2	7546	broad.mit.edu	37	chr13	100635217	100635217	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccggagcagagcaaccAcgtctgcttctgggaggagt	8	6	15	12	3	2	1	0	0	2	1	2	4	2	4	2	4	4	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:100635217A>G	ENST00000376335.3	+	1	1192	c.899A>G	c.(898-900)cAc>cGc	p.H300R		NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	300					brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGAGCAACCACGTCTGCTTC	0.587													G	100635217	A	G	100635217	3	3	364	1	0	0	0	0	1	0	0	0	17780	159	6	3	901	3	ZIC2	13	100635217	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17398	100635217	14534661	10321	33823											
PCCA	5095	broad.mit.edu	37	chr13	101182405	101182405	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttggagaaggggatctgctCgtggagctggaatgaaggat	10	9	18	4	1	1	2	0	1	1	1	2	7	1	6	0	6	2	3	0	6	3	1	rs150352833	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101182405C>T	ENST00000376285.1	+	24	2210	c.2172C>T	c.(2170-2172)ctC>ctT	p.L724L	PCCA_ENST00000376286.4_Silent_p.L698L|PCCA_ENST00000376279.3_Silent_p.L677L	NM_000282.3	NP_000273.2	P05165	PCCA_HUMAN	propionyl CoA carboxylase, alpha polypeptide	724	Biotinyl-binding.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|enzyme binding|metal ion binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|prostate(1)|skin(2)	26	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Biotin(DB00121)	GGGATCTGCTCGTGGAGCTGG	0.408													T	101182405	C	T	101182405	2	4	364	1	0	0	0	0	0	0	0	1	11580	871	31	1		1	PCCA	13	101182405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	547188	101182405	13987473	10322	33824											
NALCN	259232	broad.mit.edu	37	chr13	101735165	101735165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcattacagtacctccaGaacaaagatgaaggtgaaaa	18	7	8	8	0	1	4	1	2	0	2	2	5	2	4	2	1	3	1	2	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101735165G>A	ENST00000251127.6	-	33	3841	c.3760C>T	c.(3760-3762)Ctg>Ttg	p.L1254L		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1254						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTACCTCCAGAACAAAGATG	0.493													A	101735165	G	A	101735165	2	1	364	1	0	0	0	0	0	0	0	1	10224	933	33	2		2	NALCN	13	101735165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	552760	101735165	13434713	10323	33825											
NALCN	259232	broad.mit.edu	37	chr13	101763479	101763479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcccaagtatttacctgCgctcttggcggatatgatgc	7	14	9	11	2	2	1	0	1	2	0	3	2	3	2	2	2	3	2	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:101763479C>T	ENST00000251127.6	-	19	2372	c.2291G>A	c.(2290-2292)cGc>cAc	p.R764H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	764						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TATTTACCTGCGCTCTTGGCG	0.552													T	101763479	C	T	101763479	3	4	364	1	0	0	0	0	1	0	0	0	10224	768	27	1	3029	1	NALCN	13	101763479	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28314	101763479	13406399	10324	33826											
TPP2	7174	broad.mit.edu	37	chr13	103268766	103268766	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaacggaaggaaaaaatCtgggaccctgttcacagagt	17	6	11	7	1	2	2	1	0	1	2	2	5	2	5	1	3	1	1	1	3	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103268766C>A	ENST00000376052.3	+	4	427	c.411C>A	c.(409-411)atC>atA	p.I137I	TPP2_ENST00000376065.4_Silent_p.I137I			P29144	TPP2_HUMAN	tripeptidyl peptidase II	137					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGGAAAAAATCTGGGACCCTG	0.423													A	103268766	C	A	103268766	2	1	364	1	0	0	0	0	0	0	0	1	16513	903	32	4		4	TPP2	13	103268766	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1505287	103268766	11901112	10325	33827											
TPP2	7174	broad.mit.edu	37	chr13	103287939	103287939	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtttcttaattttaggtCtgaaagctaataacattgac	12	18	6	5	0	2	2	0	2	2	0	2	2	2	2	0	1	2	2	0	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103287939C>T	ENST00000376052.3	+	12	1412	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	TPP2_ENST00000376065.4_Silent_p.L466L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	466					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AATTTTAGGTCTGAAAGCTAA	0.403													T	103287939	C	T	103287939	2	4	364	1	0	0	0	0	0	0	0	1	16513	912	32	2		2	TPP2	13	103287939	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19173	103287939	11881939	10326	33828											
BIVM	54841	broad.mit.edu	37	chr13	103491950	103491950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatttgcattgcatcatagCattccagagacttaactggc	13	12	7	9	0	1	1	1	0	0	1	2	2	2	1	1	1	4	3	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103491950C>T	ENST00000257336.1	+	11	1926	c.1247C>T	c.(1246-1248)gCa>gTa	p.A416V	BIVM_ENST00000419638.1_3'UTR|BIVM_ENST00000448849.2_Missense_Mutation_p.A194V|BIVM-ERCC5_ENST00000602836.1_Silent_p.S387S	NM_017693.3	NP_060163.2			basic, immunoglobulin-like variable motif containing											endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|skin(2)|urinary_tract(1)	25	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCATCATAGCATTCCAGAGA	0.393													T	103491950	C	T	103491950	3	4	364	1	0	0	0	0	1	0	0	0	1447	710	25	2	1302	2	BIVM	13	103491950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	204011	103491950	11677928	10327	33829											
SLC10A2	6555	broad.mit.edu	37	chr13	103710636	103710636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgttatcatagggaattacGatgctcccagagtcgaccca	12	10	9	10	2	1	1	1	0	0	1	3	4	2	2	2	1	2	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103710636G>A	ENST00000245312.3	-	2	1070	c.474C>T	c.(472-474)atC>atT	p.I158I		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	158					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					AGGGAATTACGATGCTCCCAG	0.502													A	103710636	G	A	103710636	2	1	364	1	0	0	0	0	0	0	0	1	14468	1048	37	1		1	SLC10A2	13	103710636	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218686	103710636	11459242	10328	33830											
SLC10A2	6555	broad.mit.edu	37	chr13	103718407	103718407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaacacaaatgccccacgGccgctttatgtgccctagaa	11	7	8	15	2	0	1	0	0	0	1	0	1	0	1	5	1	3	1	5	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:103718407G>A	ENST00000245312.3	-	1	789	c.193C>T	c.(193-195)Ccg>Tcg	p.P65S		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	65					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					ATGCCCCACGGCCGCTTTATG	0.532													A	103718407	G	A	103718407	3	1	364	1	0	0	0	0	1	0	0	0	14468	1203	42	2	877	2	SLC10A2	13	103718407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7771	103718407	11451471	10329	33831											
ARGLU1	55082	broad.mit.edu	37	chr13	107211822	107211822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagcttgtctctgtcgCtcgagttcttcgagcaactg	6	13	10	12	3	3	0	1	0	2	0	7	2	3	0	0	0	4	5	0	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:107211822C>T	ENST00000375926.1	-	2	303	c.80G>A	c.(79-81)aGc>aAc	p.S27N	ARGLU1_ENST00000400198.3_Silent_p.E177E			Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	70	Arg-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					GTCTCTGTCGCTCGAGTTCTT	0.483													T	107211822	C	T	107211822	3	4	364	1	0	0	0	0	1	0	0	0	863	796	28	2	302	2	ARGLU1	13	107211822	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3493415	107211822	7958056	10330	33832											
LIG4	3981	broad.mit.edu	37	chr13	108862336	108862336	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttttaccataattccCtcttctcttttatctattgc	6	21	4	10	0	3	0	0	0	3	0	5	0	4	0	2	1	2	2	2	1	4	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:108862336C>A	ENST00000356922.4	-	2	1553	c.1281G>T	c.(1279-1281)gaG>gaT	p.E427D	LIG4_ENST00000442234.1_Missense_Mutation_p.E427D|LIG4_ENST00000405925.1_Missense_Mutation_p.E427D	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	427					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCATAATTCCCTCTTCTCTTT	0.363								Non-homologous end-joining					A	108862336	C	A	108862336	3	1	364	1	0	0	0	0	1	0	0	0	8843	680	24	4	1458	4	LIG4	13	108862336	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1650514	108862336	6307542	10331	33833											
IRS2	8660	broad.mit.edu	37	chr13	110434638	110434638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccctcacgtcgatggCgatgtagttgagaccattct	7	12	9	13	3	2	1	1	1	1	1	5	4	4	1	3	1	0	2	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110434638C>T	ENST00000375856.3	-	1	4277	c.3763G>A	c.(3763-3765)Gcc>Acc	p.A1255T		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1255					fibroblast growth factor receptor signaling pathway|glucose metabolic process|insulin receptor signaling pathway|lipid homeostasis|negative regulation of B cell apoptosis|negative regulation of kinase activity|negative regulation of plasma membrane long-chain fatty acid transport|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of B cell proliferation|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|response to glucose stimulus	cytosol|plasma membrane	insulin receptor binding|signal transducer activity			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			ACGTCGATGGCGATGTAGTTG	0.711													T	110434638	C	T	110434638	3	4	364	1	0	0	0	0	1	0	0	0	7899	768	27	1	261	1	IRS2	13	110434638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1572302	110434638	4735240	10332	33834											
COL4A1	1282	broad.mit.edu	37	chr13	110861234	110861234	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaaacttaagcccatttGtccctgtggattaaaaatta	14	14	6	7	0	0	1	0	1	0	0	1	2	1	2	2	1	2	0	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:110861234G>A	ENST00000375820.4	-	12	776	c.655C>T	c.(655-657)Caa>Taa	p.Q219*	COL4A1_ENST00000543140.1_Nonsense_Mutation_p.Q219*	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	219	Triple-helical region.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AAGCCCATTTGTCCCTGTGGA	0.388													A	110861234	G	A	110861234	4	1	364	1	0	0	0	0	0	1	0	0	3720	1386	48	2	4518	2	COL4A1	13	110861234	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	426596	110861234	4308644	10333	33835											
COL4A2	1284	broad.mit.edu	37	chr13	111109744	111109744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggcttccctgggcttcCcggctcccctggagcccgcg	3	7	13	18	3	0	0	0	0	0	0	3	1	3	1	5	4	2	4	5	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111109744C>T	ENST00000360467.5	+	21	1700	c.1394C>T	c.(1393-1395)cCc>cTc	p.P465L	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	465	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CCTGGGCTTCCCGGCTCCCCT	0.602													T	111109744	C	T	111109744	3	4	364	1	0	0	0	0	1	0	0	0	3721	623	22	2	1472	2	COL4A2	13	111109744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248510	111109744	4060134	10334	33836											
COL4A2	1284	broad.mit.edu	37	chr13	111118375	111118375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacagatgtgaaaagggcCgttggaggtgacagacagga	14	5	16	6	1	0	4	0	2	0	2	0	7	0	6	1	4	0	1	1	4	2	1	rs148709279	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111118375C>T	ENST00000360467.5	+	26	2310	c.2004C>T	c.(2002-2004)gcC>gcT	p.A668A		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	668	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGAAAAGGGCCGTTGGAGGTG	0.512													T	111118375	C	T	111118375	2	4	364	1	0	0	0	0	0	0	0	1	3721	639	23	1		1	COL4A2	13	111118375	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8631	111118375	4051503	10335	33837											
COL4A2	1284	broad.mit.edu	37	chr13	111134925	111134925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggactcaaagggagacccGggtttccagggagcaaaggc	11	5	15	10	1	1	1	1	0	0	1	2	4	2	3	2	5	1	2	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111134925G>A	ENST00000360467.5	+	32	3127	c.2821G>A	c.(2821-2823)Ggg>Agg	p.G941R		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	941	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			AGGGAGACCCGGGTTTCCAGG	0.517													A	111134925	G	A	111134925	3	1	364	1	0	0	0	0	1	0	0	0	3721	1116	39	1	2943	1	COL4A2	13	111134925	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16550	111134925	4034953	10336	33838											
RAB20	55647	broad.mit.edu	37	chr13	111176381	111176381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagtgaggtccactttgttCcccacgatggcaaagaggca	10	9	11	11	1	1	2	1	1	0	1	3	3	3	2	3	3	0	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111176381C>T	ENST00000267328.3	-	2	549	c.336G>A	c.(334-336)ggG>ggA	p.G112G		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			CCACTTTGTTCCCCACGATGG	0.612													T	111176381	C	T	111176381	2	4	364	1	0	0	0	0	0	0	0	1	12995	842	30	2		2	RAB20	13	111176381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41456	111176381	3993497	10337	33839											
ING1	3621	broad.mit.edu	37	chr13	111366570	111366570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctacctggactccatcgagtCcctgcctttcgacttgcaga	7	11	8	15	2	0	1	0	0	0	1	4	4	2	2	4	1	3	1	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111366570C>T	ENST00000333219.7	+	1	946	c.74C>T	c.(73-75)tCc>tTc	p.S25F	ING1_ENST00000375775.3_Intron|ING1_ENST00000338450.7_Intron	NM_001267728.1|NM_198219.2	NP_001254657.1|NP_937862.1	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	0					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding			endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			TCCATCGAGTCCCTGCCTTTC	0.622													T	111366570	C	T	111366570	3	4	364	1	0	0	0	0	1	0	0	0	7793	855	30	2	84	2	ING1	13	111366570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190189	111366570	3803308	10338	33840											
ARHGEF7	8874	broad.mit.edu	37	chr13	111932994	111932994	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgtgggaaaccccacCataaagcctcattcagtgcc	11	8	8	14	1	3	0	2	0	1	0	3	1	3	1	5	1	3	0	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:111932994C>A	ENST00000375741.2	+	16	2008	c.1758C>A	c.(1756-1758)acC>acA	p.T586T	ARHGEF7_ENST00000317133.5_Silent_p.T565T|ARHGEF7_ENST00000375723.1_Silent_p.T408T|ARHGEF7_ENST00000375736.4_Silent_p.T408T|ARHGEF7_ENST00000426073.2_Silent_p.T408T|ARHGEF7_ENST00000544132.1_3'UTR|ARHGEF7_ENST00000375739.2_Silent_p.T536T|ARHGEF7_ENST00000478679.1_Silent_p.T330T|ARHGEF7_ENST00000218789.5_Silent_p.T408T|ARHGEF7_ENST00000370623.3_Silent_p.T493T|ARHGEF7_ENST00000375737.5_Silent_p.T483T	NM_001113511.1|NM_145735.2	NP_001106983.1|NP_663788.1	Q14155	ARHG7_HUMAN	Rho guanine nucleotide exchange factor (GEF) 7	586					apoptosis|epidermal growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	41	all_lung(23;3.96e-05)|Lung NSC(43;0.00156)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.188)			GAAACCCCACCATAAAGCCTC	0.537													A	111932994	C	A	111932994	2	1	364	1	0	0	0	0	0	0	0	1	914	581	21	4		4	ARHGEF7	13	111932994	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	566424	111932994	3236884	10339	33841											
TUBGCP3	10426	broad.mit.edu	37	chr13	113153377	113153378	+	Frame_Shift_Ins	INS	-	-	T																															cctcaatttcacgctgtttcINStttttctcttcaaactgtaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113153377_113153378insT	ENST00000261965.3	-	20	2615_2616	c.2429_2430insA	c.(2428-2430)aagfs	p.K810fs	TUBGCP3_ENST00000375669.3_Frame_Shift_Ins_p.K810fs	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	810					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					CACGCTGTTTCTTTTTCTCTTC	0.356													T	113153378	-	T	113153377	7	5	364	1	0	1	1	0	0	0	0	0	16869	912	32	0	305	0	TUBGCP3	13	113153377	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1220383	113153377	2016501	10340	33842											
ATP11A	23250	broad.mit.edu	37	chr13	113465017	113465017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagcacggcaagctcgttCggaaacaaagtcgaaagctg	13	7	11	10	4	1	0	1	0	0	0	4	2	1	1	0	2	4	5	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113465017C>T	ENST00000487903.1	+	5	506	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ATP11A_ENST00000283558.8_Missense_Mutation_p.R140W|ATP11A_ENST00000375645.3_Missense_Mutation_p.R140W|ATP11A_ENST00000375630.2_Missense_Mutation_p.R140W			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	140					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CAAGCTCGTTCGGAAACAAAG	0.443													T	113465017	C	T	113465017	3	4	364	1	0	0	0	0	1	0	0	0	1124	875	31	1	436	1	ATP11A	13	113465017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	311640	113465017	1704861	10341	33843											
ATP11A	23250	broad.mit.edu	37	chr13	113514618	113514618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagactttgtacgacaccgcGtatctgaccctctacaacat	11	10	6	14	3	2	2	0	1	2	1	2	3	2	2	2	0	3	2	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113514618G>A	ENST00000487903.1	+	24	2833	c.2745G>A	c.(2743-2745)gcG>gcA	p.A915A	ATP11A_ENST00000283558.8_Silent_p.A915A|ATP11A_ENST00000375645.3_Silent_p.A915A|ATP11A_ENST00000375630.2_Silent_p.A915A			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	915					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				ACGACACCGCGTATCTGACCC	0.453													A	113514618	G	A	113514618	2	1	364	1	0	0	0	0	0	0	0	1	1124	1132	40	1		1	ATP11A	13	113514618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49601	113514618	1655260	10342	33844											
MCF2L	23263	broad.mit.edu	37	chr13	113699134	113699134	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attttctcccagcaccgtagCcatgccaccacgagtgaatc	10	9	7	15	2	1	1	0	1	1	0	3	2	1	1	5	0	3	2	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113699134C>T	ENST00000397021.1	+	1	159	c.96C>T	c.(94-96)agC>agT	p.S32S	MCF2L_ENST00000535094.2_Intron|MCF2L_ENST00000375597.4_Intron|MCF2L_ENST00000423482.2_Intron|MCF2L_ENST00000375604.2_Intron|MCF2L_ENST00000434480.2_Intron|MCF2L_ENST00000442652.2_Intron|MCF2L_ENST00000375608.3_Intron|MCF2L_ENST00000421756.1_Intron|MCF2L_ENST00000397030.1_Intron|MCF2L_ENST00000375601.3_Intron|MCF2L_ENST00000480321.1_3'UTR			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGCACCGTAGCCATGCCACCA	0.557													T	113699134	C	T	113699134	2	4	364	1	0	0	0	0	0	0	0	1	9454	754	26	2		2	MCF2L	13	113699134	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184516	113699134	1470744	10343	33845											
MCF2L	23263	broad.mit.edu	37	chr13	113729378	113729378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgggaacaagcactacGcggtagactccatccgccca	11	7	9	14	3	1	1	1	0	0	1	3	2	3	2	3	2	3	2	3	2	4	3	rs145260894		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729378G>A	ENST00000397030.1	+	11	1319	c.1282G>A	c.(1282-1284)Gcg>Acg	p.A428T	MCF2L_ENST00000535094.2_Missense_Mutation_p.A395T|MCF2L_ENST00000375597.4_Missense_Mutation_p.A393T|MCF2L_ENST00000423482.2_Missense_Mutation_p.A393T|MCF2L_ENST00000375604.2_Missense_Mutation_p.A452T|MCF2L_ENST00000434480.2_Missense_Mutation_p.A401T|MCF2L_ENST00000442652.2_Missense_Mutation_p.A425T|MCF2L_ENST00000375608.3_Missense_Mutation_p.A425T|MCF2L_ENST00000421756.1_Missense_Mutation_p.A399T|MCF2L_ENST00000375601.3_Missense_Mutation_p.A399T			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	425					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CAAGCACTACGCGGTAGACTC	0.657													A	113729378	G	A	113729378	3	1	364	1	0	0	0	0	1	0	0	0	9454	1087	38	1	1491	1	MCF2L	13	113729378	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30244	113729378	1440500	10344	33846											
MCF2L	23263	broad.mit.edu	37	chr13	113729440	113729440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgaccagttctctgcGgagatcgcaaggaggagggg	8	8	16	9	2	2	2	0	1	2	1	4	5	2	4	1	5	1	2	1	5	1	1	rs145592732	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113729440G>A	ENST00000397030.1	+	11	1381	c.1344G>A	c.(1342-1344)gcG>gcA	p.A448A	MCF2L_ENST00000535094.2_Silent_p.A415A|MCF2L_ENST00000375597.4_Silent_p.A413A|MCF2L_ENST00000423482.2_Silent_p.A413A|MCF2L_ENST00000375604.2_Silent_p.A472A|MCF2L_ENST00000434480.2_Silent_p.A421A|MCF2L_ENST00000442652.2_Silent_p.A445A|MCF2L_ENST00000375608.3_Silent_p.A445A|MCF2L_ENST00000421756.1_Silent_p.A419A|MCF2L_ENST00000375601.3_Silent_p.A419A			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	445					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGTTCTCTGCGGAGATCGCAA	0.667													A	113729440	G	A	113729440	2	1	364	1	0	0	0	0	0	0	0	1	9454	1103	39	1		1	MCF2L	13	113729440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62	113729440	1440438	10345	33847											
MCF2L	23263	broad.mit.edu	37	chr13	113743999	113743999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccctaagcctggagggataCgtcagctcagcgccactgac	9	6	11	15	2	2	1	2	1	0	0	2	3	2	3	4	2	4	1	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113743999C>T	ENST00000397030.1	+	26	3046	c.3009C>T	c.(3007-3009)taC>taT	p.Y1003Y	MCF2L_ENST00000535094.2_Silent_p.Y970Y|MCF2L_ENST00000375597.4_Silent_p.Y968Y|MCF2L_ENST00000423482.2_Silent_p.Y968Y|MCF2L_ENST00000375604.2_Silent_p.Y1027Y|MCF2L_ENST00000434480.2_Silent_p.Y976Y|MCF2L_ENST00000442652.2_Silent_p.Y1000Y|MCF2L_ENST00000375608.3_Silent_p.Y1000Y|MCF2L_ENST00000421756.1_Silent_p.Y974Y|MCF2L_ENST00000375601.3_Silent_p.Y974Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	1000					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				TGGAGGGATACGTCAGCTCAG	0.547													T	113743999	C	T	113743999	2	4	364	1	0	0	0	0	0	0	0	1	9454	547	19	1		1	MCF2L	13	113743999	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14559	113743999	1425879	10346	33848											
MCF2L	23263	broad.mit.edu	37	chr13	113751159	113751159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggccaggcccccttctccGacctgcaggggtagcgcggc	4	5	15	17	4	1	0	0	0	1	0	2	1	1	0	5	5	2	2	5	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113751159G>A	ENST00000375601.3	+	30	3703	c.3376G>A	c.(3376-3378)Gac>Aac	p.D1126N	MCF2L_ENST00000535094.2_Missense_Mutation_p.D1122N|MCF2L_ENST00000423482.2_Missense_Mutation_p.D1120N|MCF2L_ENST00000375604.2_Missense_Mutation_p.D1179N|MCF2L_ENST00000375608.3_3'UTR|MCF2L_ENST00000397030.1_3'UTR			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	0					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				CCCCTTCTCCGACCTGCAGGG	0.771													A	113751159	G	A	113751159	3	1	364	1	0	0	0	0	1	0	0	0	9454	1058	37	1	3748	1	MCF2L	13	113751159	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7160	113751159	1418719	10347	33849											
F7	2155	broad.mit.edu	37	chr13	113772771	113772771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggatgagcagagccggCgggtggcgcaggtcatcatc	8	5	18	10	4	2	2	2	1	0	1	3	3	2	3	1	6	2	2	1	6	0	0	rs149779477		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772771C>T	ENST00000375581.3	+	9	885	c.850C>T	c.(850-852)Cgg>Tgg	p.R284W	F7_ENST00000346342.3_Missense_Mutation_p.R262W|F7_ENST00000541084.1_Missense_Mutation_p.R215W	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	284	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GCAGAGCCGGCGGGTGGCGCA	0.682													T	113772771	C	T	113772771	3	4	364	1	0	0	0	0	1	0	0	0	5391	759	27	1	884	1	F7	13	113772771	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21612	113772771	1397107	10348	33850											
F7	2155	broad.mit.edu	37	chr13	113772785	113772785	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggcgggtggcgcaggtCatcatccccagcacgtacgt	7	6	14	14	5	2	0	2	0	0	0	3	0	3	0	3	4	3	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113772785C>A	ENST00000375581.3	+	9	899	c.864C>A	c.(862-864)gtC>gtA	p.V288V	F7_ENST00000346342.3_Silent_p.V266V|F7_ENST00000541084.1_Silent_p.V219V	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	288	Peptidase S1.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	TGGCGCAGGTCATCATCCCCA	0.677													A	113772785	C	A	113772785	2	1	364	1	0	0	0	0	0	0	0	1	5391	813	29	4		4	F7	13	113772785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14	113772785	1397093	10349	33851											
F10	2159	broad.mit.edu	37	chr13	113803537	113803537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaccgcaacagctgcaaGctgtccagcagcttcatcat	10	8	10	13	1	2	0	2	0	0	0	3	1	3	1	2	1	6	6	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113803537G>A	ENST00000375559.3	+	8	1211	c.1173G>A	c.(1171-1173)aaG>aaA	p.K391K	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	391	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAGCTGCAAGCTGTCCAGCA	0.647													A	113803537	G	A	113803537	2	1	364	1	0	0	0	0	0	0	0	1	5378	962	34	2		2	F10	13	113803537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30752	113803537	1366341	10350	33852											
LAMP1	3916	broad.mit.edu	37	chr13	113960824	113960824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcattgtgcgtcagcagCaatgtttatggtgaaaaatg	12	12	11	6	1	1	1	1	1	0	0	1	1	1	1	0	1	4	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:113960824C>T	ENST00000332556.4	+	2	280	c.86C>T	c.(85-87)gCa>gTa	p.A29V	LAMP1_ENST00000397181.3_Missense_Mutation_p.A29V	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	29	First lumenal domain.					endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			GCGTCAGCAGCAATGTTTATG	0.488													T	113960824	C	T	113960824	3	4	364	1	0	0	0	0	1	0	0	0	8676	710	25	2	92	2	LAMP1	13	113960824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157287	113960824	1209054	10351	33853											
ADPRHL1	113622	broad.mit.edu	37	chr13	114078566	114078566	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccggtgacacagctcagtCcagctgtttcctgctgcaag	7	9	11	14	1	1	1	1	1	0	0	3	1	3	1	3	1	4	5	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114078566C>T	ENST00000356501.4	-	6	802	c.627G>A	c.(625-627)tgG>tgA	p.W209*	ADPRHL1_ENST00000375418.3_Nonsense_Mutation_p.W291*	NM_199162.1	NP_954631.1	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	291					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			ACAGCTCAGTCCAGCTGTTTC	0.587													T	114078566	C	T	114078566	4	4	364	1	0	0	0	0	0	1	0	0	332	856	30	2	199	2	ADPRHL1	13	114078566	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117742	114078566	1091312	10352	33854											
ADPRHL1	113622	broad.mit.edu	37	chr13	114107713	114107713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtagccaagagcatcgcCgacgctccccagcaacatcg	10	6	9	16	4	1	1	0	0	1	1	4	2	2	1	4	0	4	4	4	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114107713C>T	ENST00000375418.3	-	1	126	c.40G>A	c.(40-42)Ggc>Agc	p.G14S		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	14					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			AGAGCATCGCCGACGCTCCCC	0.587													T	114107713	C	T	114107713	3	4	364	1	0	0	0	0	1	0	0	0	332	652	23	1	1052	1	ADPRHL1	13	114107713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29147	114107713	1062165	10353	33855											
DCUN1D2	55208	broad.mit.edu	37	chr13	114135036	114135036	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaatcccatcgactccAattttgttttcatcttgtgg	7	18	7	9	1	2	1	1	1	1	0	5	2	4	1	2	1	0	2	2	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114135036A>G	ENST00000478244.1	-	3	525	c.243T>C	c.(241-243)atT>atC	p.I81I	DCUN1D2_ENST00000332592.3_Intron|DCUN1D2_ENST00000375399.2_Silent_p.I81I|DCUN1D2_ENST00000460318.1_5'UTR	NM_001014283.1	NP_001014305.1	Q6PH85	DCNL2_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 2	81	DCUN1.									breast(1)|endometrium(1)|large_intestine(1)|lung(3)|stomach(1)	7	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.029)|GBM - Glioblastoma multiforme(44;0.234)			CATCGACTCCAATTTTGTTTT	0.393													G	114135036	A	G	114135036	2	3	364	1	0	0	0	0	0	0	0	1	4348	126	5	3		3	DCUN1D2	13	114135036	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27323	114135036	1034842	10354	33856											
TMCO3	55002	broad.mit.edu	37	chr13	114149983	114149983	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggagcacgaggaggtggcGcagcgtgtgatcaaactgca	10	6	17	8	3	1	1	1	1	0	0	1	4	1	3	0	4	4	3	0	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114149983G>A	ENST00000434316.2	+	2	446	c.87G>A	c.(85-87)gcG>gcA	p.A29A	TMCO3_ENST00000375391.1_Silent_p.A29A|TMCO3_ENST00000474393.1_3'UTR	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	29						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			AGGAGGTGGCGCAGCGTGTGA	0.647													A	114149983	G	A	114149983	2	1	364	1	0	0	0	0	0	0	0	1	16097	1074	38	1		1	TMCO3	13	114149983	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14947	114149983	1019895	10355	33857											
TMCO3	55002	broad.mit.edu	37	chr13	114193804	114193804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgcgacttcctggccatcGttttcttcgcctccataggt	4	14	8	15	4	1	0	0	0	1	0	6	1	4	0	5	2	0	1	5	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114193804G>A	ENST00000434316.2	+	10	2031	c.1672G>A	c.(1672-1674)Gtt>Att	p.V558I	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	558						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			CCTGGCCATCGTTTTCTTCGC	0.502													A	114193804	G	A	114193804	3	1	364	1	0	0	0	0	1	0	0	0	16097	1145	40	1	1706	1	TMCO3	13	114193804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43821	114193804	976074	10356	33858											
TFDP1	7027	broad.mit.edu	37	chr13	114290930	114290930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcggatgggcatggcttgCgggctggagtcggggagctg	6	7	21	7	3	0	0	0	0	0	0	1	3	0	3	0	7	3	4	0	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114290930C>T	ENST00000375370.5	+	10	1133	c.921C>T	c.(919-921)tgC>tgT	p.C307C	TFDP1_ENST00000544902.1_Silent_p.C212C|TFDP1_ENST00000538138.1_Silent_p.C212C	NM_007111.4	NP_009042.1	Q14186	TFDP1_HUMAN	transcription factor Dp-1	307	DCB2.|Enhances binding of RB protein to E2F.				cell proliferation|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|regulation of transcription from RNA polymerase II promoter	transcription factor complex	DNA binding|protein domain specific binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(10)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.132)|all_epithelial(44;0.0731)|all_lung(25;0.149)|Breast(118;0.153)	all cancers(43;0.0576)			GCATGGCTTGCGGGCTGGAGT	0.517										TSP Lung(29;0.18)			T	114290930	C	T	114290930	2	4	364	1	0	0	0	0	0	0	0	1	15897	776	27	1		1	TFDP1	13	114290930	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97126	114290930	878948	10357	33859											
ATP4B	496	broad.mit.edu	37	chr13	114307678	114307678	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgtgaggtctgcccaggTtctgttatcagagacgttgt	6	14	13	8	1	3	2	1	1	2	1	3	3	3	2	1	2	1	3	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114307678T>C	ENST00000335288.4	-	3	354	c.313A>G	c.(313-315)Acc>Gcc	p.T105A		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	105					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	TCTGCCCAGGTTCTGTTATCA	0.557													C	114307678	T	C	114307678	3	2	364	1	0	0	0	0	1	0	0	0	1151	1725	60	3	582	3	ATP4B	13	114307678	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16748	114307678	862200	10358	33860											
GRK1	6011	broad.mit.edu	37	chr13	114325904	114325904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatcatctgcggcctggaGcacctgcaccagaggcggat	9	6	13	13	2	2	2	1	0	1	2	2	4	2	4	3	4	3	2	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325904G>A	ENST00000335678.6	+	3	1150	c.918G>A	c.(916-918)gaG>gaA	p.E306E		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	306	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			GCGGCCTGGAGCACCTGCACC	0.602													A	114325904	G	A	114325904	2	1	364	1	0	0	0	0	0	0	0	1	6845	962	34	2		2	GRK1	13	114325904	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18226	114325904	843974	10359	33861											
GRK1	6011	broad.mit.edu	37	chr13	114325951	114325951	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgcgacctcaagcccgagaAcgtgctgctggacaatgacg	10	5	12	14	5	1	2	1	1	0	1	1	5	1	3	3	1	4	2	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114325951A>G	ENST00000335678.6	+	3	1197	c.965A>G	c.(964-966)aAc>aGc	p.N322S		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	322	Protein kinase.				regulation of G-protein coupled receptor protein signaling pathway|rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|rhodopsin kinase activity|signal transducer activity			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			AAGCCCGAGAACGTGCTGCTG	0.473													G	114325951	A	G	114325951	3	3	364	1	0	0	0	0	1	0	0	0	6845	43	2	3	975	3	GRK1	13	114325951	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47	114325951	843927	10360	33862											
GAS6	2621	broad.mit.edu	37	chr13	114535710	114535710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggccacgctgaagggcaCgcacggcaagatgtcctgcc	8	6	13	14	3	0	2	0	1	0	1	1	2	1	2	3	3	1	4	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114535710C>T	ENST00000357389.3	-	9	1131	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000418959.3_De_novo_Start_InFrame|GAS6_ENST00000355761.4_Missense_Mutation_p.V230M|GAS6_ENST00000327773.6_Missense_Mutation_p.V284M|GAS6_ENST00000450766.1_Missense_Mutation_p.V11M			Q14393	GAS6_HUMAN	growth arrest-specific 6	327					cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CTGAAGGGCACGCACGGCAAG	0.687													T	114535710	C	T	114535710	3	4	364	1	0	0	0	0	1	0	0	0	6303	536	19	1	1214	1	GAS6	13	114535710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209759	114535710	634168	10361	33863											
RASA3	22821	broad.mit.edu	37	chr13	114751266	114751266	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acacagatttgctcccacagGcctctgtggagggcggaggg	8	7	15	11	1	1	1	0	0	1	1	2	3	2	3	2	5	1	1	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114751266G>T	ENST00000334062.7	-	23	2370	c.2249C>A	c.(2248-2250)gCc>gAc	p.A750D	RASA3_ENST00000389544.4_Missense_Mutation_p.A718D	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	750					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			GCTCCCACAGGCCTCTGTGGA	0.637													T	114751266	G	T	114751266	3	4	364	1	0	0	0	0	1	0	0	0	13150	1203	42	4	263	4	RASA3	13	114751266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	215556	114751266	418612	10362	33864											
RASA3	22821	broad.mit.edu	37	chr13	114757976	114757976	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccctgcatcttctccaGcttgctcatgtacaagttga	8	13	6	14	0	4	1	2	1	2	0	5	1	4	1	2	0	4	5	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:114757976G>A	ENST00000334062.7	-	22	2351	c.2230C>T	c.(2230-2232)Ctg>Ttg	p.L744L	RASA3_ENST00000389544.4_Silent_p.L712L	NM_007368.2	NP_031394.2	Q14644	RASA3_HUMAN	RAS p21 protein activator 3	744					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	calcium-release channel activity|metal ion binding|Ras GTPase activator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47	Lung NSC(43;0.00814)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.016)|all_epithelial(44;0.00577)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.188)	BRCA - Breast invasive adenocarcinoma(86;0.128)			ATCTTCTCCAGCTTGCTCATG	0.602													A	114757976	G	A	114757976	2	1	364	1	0	0	0	0	0	0	0	1	13150	962	34	2		2	RASA3	13	114757976	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6710	114757976	411902	10363	33865											
CDC16	8881	broad.mit.edu	37	chr13	115012436	115012436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgcagtgggatgttactatCtcatggtcggtcataaaaat	11	14	10	6	1	2	0	2	0	1	0	4	1	2	1	0	3	2	2	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr13:115012436C>T	ENST00000360383.3	+	11	1126	c.928C>T	c.(928-930)Ctc>Ttc	p.L310F	CDC16_ENST00000252458.6_Missense_Mutation_p.L216F|CDC16_ENST00000375312.3_Missense_Mutation_p.L216F|CDC16_ENST00000252457.5_Missense_Mutation_p.L309F|CDC16_ENST00000356221.3_Missense_Mutation_p.L310F|CDC16_ENST00000375310.1_Missense_Mutation_p.L216F|CDC16_ENST00000375308.1_Missense_Mutation_p.L216F	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	310					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			ATGTTACTATCTCATGGTCGG	0.328													T	115012436	C	T	115012436	3	4	364	1	0	0	0	0	1	0	0	0	3088	913	32	2	970	2	CDC16	13	115012436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	254460	115012436	157442	10364	33866											
OR11H12	440153	broad.mit.edu	37	chr14	19377766	19377766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actgactataacagggaatgGagccattgcttttgtcctgt	10	13	10	8	0	0	1	0	1	0	0	1	3	1	3	2	2	3	1	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19377766G>A	ENST00000550708.1	+	1	245	c.173G>A	c.(172-174)gGa>gAa	p.G58E		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ACAGGGAATGGAGCCATTGCT	0.408													A	19377766	G	A	19377766	3	1	364	1	0	0	0	0	1	0	0	0	11003	1174	41	2	175	2	OR11H12	14	19377766	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		19377766	87971774	10365	33867											
OR11H12	440153	broad.mit.edu	37	chr14	19378537	19378537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaataaggagataaaggcagCcctgaggaaagttctgggaa	16	6	14	5	0	1	2	0	1	1	1	1	6	1	4	1	4	1	2	1	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:19378537C>T	ENST00000550708.1	+	1	1016	c.944C>T	c.(943-945)gCc>gTc	p.A315V		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	315					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATAAAGGCAGCCCTGAGGAAA	0.393													T	19378537	C	T	19378537	3	4	364	1	0	0	0	0	1	0	0	0	11003	739	26	2	946	2	OR11H12	14	19378537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	771	19378537	87971003	10366	33868											
OR4M1	441670	broad.mit.edu	37	chr14	20248802	20248802	+	Silent	SNP	T	T	G																															ctcttcttcttacactttgtTggggcttcggagatgttctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248802T>G	ENST00000315957.4	+	1	402	c.321T>G	c.(319-321)gtT>gtG	p.V107V		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TACACTTTGTTGGGGCTTCGG	0.473													G	20248802	T	G	20248802	2	3	364	1	0	0	0	0	0	0	0	1	11151	1799	63	5		5	OR4M1	14	20248802	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	870265	20248802	87100738	10367	33869	94	2									
OR4M1	441670	broad.mit.edu	37	chr14	20248810	20248810	+	Missense_Mutation	SNP	C	C	T																															cttacactttgttggggcttCggagatgttcttgctcacag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20248810C>T	ENST00000315957.4	+	1	410	c.329C>T	c.(328-330)tCg>tTg	p.S110L		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S110L(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GTTGGGGCTTCGGAGATGTTC	0.478													T	20248810	C	T	20248810	3	4	364	1	0	0	0	0	1	0	0	0	11151	893	31	1	331	1	OR4M1	14	20248810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	20248810	87100730	10368	33870	94	2									
OR4M1	441670	broad.mit.edu	37	chr14	20249132	20249132	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattgctctgttaatgtcCtatgccttccttctggcctt	4	19	6	12	0	3	0	1	0	2	0	5	0	5	0	4	1	2	2	4	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20249132C>A	ENST00000315957.4	+	1	732	c.651C>A	c.(649-651)tcC>tcA	p.S217S		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	217					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTAATGTCCTATGCCTTCC	0.488													A	20249132	C	A	20249132	2	1	364	1	0	0	0	0	0	0	0	1	11151	668	24	4		4	OR4M1	14	20249132	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	322	20249132	87100408	10369	33871											
OR4K2	390431	broad.mit.edu	37	chr14	20344654	20344654	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatatgtctcttgcttctttCgccaccccaaagatgattac	9	14	6	12	1	2	2	0	1	2	1	4	3	2	2	3	0	2	1	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20344654C>T	ENST00000298642.2	+	1	264	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418													T	20344654	C	T	20344654	2	4	364	1	0	0	0	0	0	0	0	1	11148	883	31	1		1	OR4K2	14	20344654	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95522	20344654	87004886	10370	33872											
OR4K5	79317	broad.mit.edu	37	chr14	20389536	20389536	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaccttgcatcttcatCtatgtgtggccctttaccat	6	17	7	11	0	3	0	1	0	2	0	3	1	3	1	3	2	2	1	3	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389536C>A	ENST00000315915.4	+	1	796	c.771C>A	c.(769-771)atC>atA	p.I257I		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GCATCTTCATCTATGTGTGGC	0.408													A	20389536	C	A	20389536	2	1	364	1	0	0	0	0	0	0	0	1	11149	903	32	4		4	OR4K5	14	20389536	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44882	20389536	86960004	10371	33873											
OR4K5	79317	broad.mit.edu	37	chr14	20389691	20389691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccattacctgaggccaaGgagaatttctgaaatgtcac	14	9	9	9	0	2	3	1	2	1	1	2	5	2	3	3	2	2	0	3	2	5	2	rs140004714		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20389691G>A	ENST00000315915.4	+	1	951	c.926G>A	c.(925-927)aGg>aAg	p.R309K		NM_001005483.1	NP_001005483.1	Q8NGD3	OR4K5_HUMAN	olfactory receptor, family 4, subfamily K, member 5	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|liver(1)|lung(27)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGAGGCCAAGGAGAATTTCT	0.373													A	20389691	G	A	20389691	3	1	364	1	0	0	0	0	1	0	0	0	11149	1000	35	2	928	2	OR4K5	14	20389691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155	20389691	86959849	10372	33874											
OR4K15	81127	broad.mit.edu	37	chr14	20443743	20443743	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaattaagtcccttccAaaatcgatgaatgagacaaa	17	9	7	8	1	0	3	0	3	0	1	3	5	2	3	2	0	0	1	2	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20443743A>G	ENST00000305051.5	+	1	141	c.66A>G	c.(64-66)ccA>ccG	p.P22P		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		AGTCCCTTCCAAAATCGATGA	0.383													G	20443743	A	G	20443743	2	3	364	1	0	0	0	0	0	0	0	1	11146	117	5	3		3	OR4K15	14	20443743	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54052	20443743	86905797	10373	33875											
OR4N5	390437	broad.mit.edu	37	chr14	20612023	20612023	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcatcctccctggaaatttCctcatcattttcaccataaa	12	14	2	13	0	4	0	4	0	0	0	7	1	7	1	4	1	0	0	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20612023C>A	ENST00000333629.1	+	1	129	c.129C>A	c.(127-129)ttC>ttA	p.F43L		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	43					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		CTGGAAATTTCCTCATCATTT	0.448													A	20612023	C	A	20612023	3	1	364	1	0	0	0	0	1	0	0	0	11155	854	30	4	131	4	OR4N5	14	20612023	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	168280	20612023	86737517	10374	33876											
OR11H6	122748	broad.mit.edu	37	chr14	20692852	20692852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcctggggttaacagttagCcaaaactgagatatctttga	12	12	10	7	0	1	2	0	2	1	1	2	3	2	2	2	2	3	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20692852C>T	ENST00000315519.2	+	1	1062	c.984C>T	c.(982-984)agC>agT	p.S328S		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TAACAGTTAGCCAAAACTGAG	0.368													T	20692852	C	T	20692852	2	4	364	1	0	0	0	0	0	0	0	1	11005	738	26	2		2	OR11H6	14	20692852	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80829	20692852	86656688	10375	33877											
OR11H4	390442	broad.mit.edu	37	chr14	20711921	20711921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgagaattcgtcaaaattCgtgagccaaagatgtgccat	15	10	9	7	2	1	3	1	2	0	2	3	4	1	3	2	0	2	0	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20711921C>T	ENST00000315409.2	+	1	1024	c.971C>T	c.(970-972)tCg>tTg	p.S324L		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CGTCAAAATTCGTGAGCCAAA	0.398													T	20711921	C	T	20711921	3	4	364	1	0	0	0	0	1	0	0	0	11004	893	31	1	973	1	OR11H4	14	20711921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19069	20711921	86637619	10376	33878											
TTC5	91875	broad.mit.edu	37	chr14	20757814	20757814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggtcgcgatgccactGtggcaacagcctggctgctg	6	9	14	12	2	0	0	0	0	0	0	1	1	0	0	2	3	4	3	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757814G>A	ENST00000258821.3	-	10	1351	c.1295C>T	c.(1294-1296)aCa>aTa	p.T432I		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	432					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CGATGCCACTGTGGCAACAGC	0.562													A	20757814	G	A	20757814	3	1	364	1	0	0	0	0	1	0	0	0	16813	1377	48	2	31	2	TTC5	14	20757814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45893	20757814	86591726	10377	33879											
TTC5	91875	broad.mit.edu	37	chr14	20757860	20757860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcttcccattcaccaCtagcaggaggggcgtctcca	8	8	11	14	1	2	1	1	1	1	0	4	2	3	2	3	4	1	2	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20757860C>A	ENST00000258821.3	-	10	1305	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	417					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		CCATTCACCACTAGCAGGAGG	0.512													A	20757860	C	A	20757860	3	1	364	1	0	0	0	0	1	0	0	0	16813	565	20	4	77	4	TTC5	14	20757860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46	20757860	86591680	10378	33880											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20784616	20784616	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcaggcagtgacccatgCatagccagagagtttgatgc	12	7	13	9	0	0	4	0	2	0	2	0	5	0	4	2	1	4	4	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20784616C>A	ENST00000398169.3	-	5	683	c.67G>T	c.(67-69)Gca>Tca	p.A23S	CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.A23S|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.A23S			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	23						chromosome|nucleus	ligase activity|metal ion binding|protein binding		HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		GTGACCCATGCATAGCCAGAG	0.473			T	HMGA2	leiomyoma								A	20784616	C	A	20784616	3	1	364	1	0	0	0	0	1	0	0	0	2942	710	25	4	778	4	CCNB1IP1	14	20784616	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26756	20784616	86564924	10379	33881											
PARP2	10038	broad.mit.edu	37	chr14	20824784	20824784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttccaggatgagtaactGggtgggaatcttgagccatg	9	11	15	6	0	1	2	0	2	1	0	2	4	2	4	2	4	2	2	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20824784G>T	ENST00000527915.1	+	13	1309	c.1304G>T	c.(1303-1305)tGg>tTg	p.W435L	PARP2_ENST00000250416.5_Missense_Mutation_p.W435L|PARP2_ENST00000429687.3_Missense_Mutation_p.W422L			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	435	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ATGAGTAACTGGGTGGGAATC	0.468								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					T	20824784	G	T	20824784	3	4	364	1	0	0	0	0	1	0	0	0	11537	1357	47	4	1354	4	PARP2	14	20824784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40168	20824784	86524756	10380	33882											
TEP1	7011	broad.mit.edu	37	chr14	20845586	20845586	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaccactcaccaatacctTggggcttagccaggccaggg	9	7	11	14	0	1	0	1	0	0	0	1	0	1	0	5	4	3	2	5	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845586T>C	ENST00000262715.5	-	41	5981	c.5941A>G	c.(5941-5943)Aag>Gag	p.K1981E	TEP1_ENST00000556935.1_Missense_Mutation_p.K1873E|TEP1_ENST00000545983.1_Missense_Mutation_p.K319E	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1981					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACCAATACCTTGGGGCTTAGC	0.582													C	20845586	T	C	20845586	3	2	364	1	0	0	0	0	1	0	0	0	15859	1821	63	3	2002	3	TEP1	14	20845586	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20802	20845586	86503954	10381	33883											
TEP1	7011	broad.mit.edu	37	chr14	20845812	20845812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgatatccaacagccaccCgatcaccatctgggctgagt	10	8	8	15	2	2	1	1	1	1	0	4	3	3	1	4	1	2	1	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20845812C>T	ENST00000262715.5	-	40	5862	c.5822G>A	c.(5821-5823)cGg>cAg	p.R1941Q	TEP1_ENST00000556935.1_Missense_Mutation_p.R1833Q|TEP1_ENST00000545983.1_Missense_Mutation_p.R279Q	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1941					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACAGCCACCCGATCACCATC	0.552													T	20845812	C	T	20845812	3	4	364	1	0	0	0	0	1	0	0	0	15859	652	23	1	2125	1	TEP1	14	20845812	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	226	20845812	86503728	10382	33884											
TEP1	7011	broad.mit.edu	37	chr14	20850092	20850092	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcgcagactctggacgagGcaggcaaacgggcccatggg	9	4	16	12	3	1	1	0	0	1	1	1	3	1	2	1	5	2	3	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20850092G>A	ENST00000262715.5	-	30	4444	c.4404C>T	c.(4402-4404)tgC>tgT	p.C1468C	TEP1_ENST00000556935.1_Silent_p.C1360C|TEP1_ENST00000545983.1_5'UTR	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1468	NACHT.		C -> Y (in dbSNP:rs1713456).		telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	p.C1468C(1)		NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		TCTGGACGAGGCAGGCAAACG	0.607													A	20850092	G	A	20850092	2	1	364	1	0	0	0	0	0	0	0	1	15859	1195	42	2		2	TEP1	14	20850092	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4280	20850092	86499448	10383	33885											
TEP1	7011	broad.mit.edu	37	chr14	20851712	20851712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtccactaacctatcagCcccatcgatgatcaggacct	10	9	7	15	1	2	1	2	1	0	0	4	3	3	2	5	2	2	0	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20851712C>T	ENST00000262715.5	-	26	3842	c.3802G>A	c.(3802-3804)Gct>Act	p.A1268T	TEP1_ENST00000556935.1_Missense_Mutation_p.A1160T	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1268	NACHT.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AACCTATCAGCCCCATCGATG	0.587													T	20851712	C	T	20851712	3	4	364	1	0	0	0	0	1	0	0	0	15859	739	26	2	4201	2	TEP1	14	20851712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1620	20851712	86497828	10384	33886											
TEP1	7011	broad.mit.edu	37	chr14	20852291	20852291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgtgtcctgaagaaggCgtggccgggcaggactcggt	7	7	17	10	3	0	2	0	1	0	1	2	3	1	3	2	5	0	2	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20852291C>T	ENST00000262715.5	-	24	3480	c.3440G>A	c.(3439-3441)cGc>cAc	p.R1147H	TEP1_ENST00000556935.1_Missense_Mutation_p.R1039H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1147					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGAAGAAGGCGTGGCCGGGC	0.647													T	20852291	C	T	20852291	3	4	364	1	0	0	0	0	1	0	0	0	15859	768	27	1	4571	1	TEP1	14	20852291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	579	20852291	86497249	10385	33887											
TEP1	7011	broad.mit.edu	37	chr14	20854314	20854314	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccagaatccccacaaacaGctgtgcgttctccacctccc	9	7	6	19	1	1	1	0	0	1	1	4	1	3	1	6	0	3	2	6	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20854314G>A	ENST00000262715.5	-	20	2942	c.2902C>T	c.(2902-2904)Ctg>Ttg	p.L968L	TEP1_ENST00000556935.1_Silent_p.L860L	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	968					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CCCACAAACAGCTGTGCGTTC	0.542													A	20854314	G	A	20854314	2	1	364	1	0	0	0	0	0	0	0	1	15859	962	34	2		2	TEP1	14	20854314	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2023	20854314	86495226	10386	33888											
TEP1	7011	broad.mit.edu	37	chr14	20871901	20871901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagagcggggtggccggCgggggtgtctcttggcccgg	2	7	22	10	4	1	1	0	0	1	1	2	2	1	1	2	9	1	0	2	9	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20871901C>T	ENST00000262715.5	-	6	1215	c.1175G>A	c.(1174-1176)cGc>cAc	p.R392H	TEP1_ENST00000556935.1_Intron	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	392	TROVE.				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		GGGTGGCCGGCGGGGGTGTCT	0.627													T	20871901	C	T	20871901	3	4	364	1	0	0	0	0	1	0	0	0	15859	768	27	1	6908	1	TEP1	14	20871901	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17587	20871901	86477639	10387	33889											
APEX1	328	broad.mit.edu	37	chr14	20925444	20925444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcggggaattactgcAggctgtgccactggctgaca	8	9	14	10	1	0	1	0	1	0	0	1	2	0	2	1	5	3	4	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:20925444A>G	ENST00000216714.3	+	5	1002	c.734A>G	c.(733-735)cAg>cGg	p.Q245R	APEX1_ENST00000398030.4_Missense_Mutation_p.Q245R|APEX1_ENST00000555414.1_Missense_Mutation_p.Q245R|APEX1_ENST00000557054.1_3'UTR|APEX1_ENST00000557365.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	245					base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	GAATTACTGCAGGCTGTGCCA	0.498								Other BER factors					G	20925444	A	G	20925444	3	3	364	1	0	0	0	0	1	0	0	0	771	188	7	3	748	3	APEX1	14	20925444	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53543	20925444	86424096	10388	33890											
ANG	283	broad.mit.edu	37	chr14	21161892	21161892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagcatcatgaggagaCggggcctgacctcaccctgc	10	6	13	12	1	2	4	2	3	0	1	2	5	2	4	3	3	2	1	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21161892C>T	ENST00000336811.6	+	2	769	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	RNASE4_ENST00000555835.1_Intron|RNASE4_ENST00000304704.4_Intron|ANG_ENST00000554073.1_Intron|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_Intron|RNASE4_ENST00000555597.1_Intron|RNASE4_ENST00000397995.2_Intron|ANG_ENST00000397990.4_Missense_Mutation_p.R57W	NM_001145.4	NP_001136.1	P03950	ANGI_HUMAN	angiogenin, ribonuclease, RNase A family, 5	57					actin filament polymerization|activation of phospholipase A2 activity|activation of phospholipase C activity|activation of protein kinase B activity|angiogenesis|cell communication|cell death|cell migration|diacylglycerol biosynthetic process|homeostatic process|negative regulation of smooth muscle cell proliferation|negative regulation of translation|oocyte maturation|ovarian follicle development|placenta development|positive regulation of endothelial cell proliferation|positive regulation of phosphorylation|positive regulation of protein secretion|response to hormone stimulus|response to hypoxia|rRNA transcription	angiogenin-PRI complex|basal lamina|extracellular space|growth cone|neuronal cell body|nucleolus	actin binding|copper ion binding|heparin binding|pancreatic ribonuclease activity|peptide binding|receptor binding|rRNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)	5	all_cancers(95;0.00387)	all_cancers(140;0.196)|all_epithelial(140;0.156)	Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	OV - Ovarian serous cystadenocarcinoma(311;3.25e-17)|GBM - Glioblastoma multiforme(265;5.56e-07)		CATGAGGAGACGGGGCCTGAC	0.507													T	21161892	C	T	21161892	3	4	364	1	0	0	0	0	1	0	0	0	607	527	19	1	171	1	ANG	14	21161892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236448	21161892	86187648	10389	33891											
RNASE4	6038	broad.mit.edu	37	chr14	21167681	21167681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagacaggtggcagtgatCgctactgcaacttgatgatg	11	9	14	7	1	0	4	0	3	0	1	1	5	0	4	0	3	3	3	0	3	2	2	rs142040605		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21167681C>T	ENST00000555835.1	+	2	827	c.151C>T	c.(151-153)Cgc>Tgc	p.R51C	RNASE4_ENST00000304704.4_Missense_Mutation_p.R51C|RP11-903H12.3_ENST00000554286.1_RNA|AL163636.6_ENST00000553909.1_3'UTR|RNASE4_ENST00000555597.1_Missense_Mutation_p.R51C|RNASE4_ENST00000397995.2_Missense_Mutation_p.R51C	NM_002937.3	NP_002928.1	P34096	RNAS4_HUMAN	ribonuclease, RNase A family, 4	51					mRNA cleavage	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_cancers(95;0.00304)		Epithelial(56;5.13e-07)|all cancers(55;4.73e-06)	GBM - Glioblastoma multiforme(265;0.0133)		TGGCAGTGATCGCTACTGCAA	0.532													T	21167681	C	T	21167681	3	4	364	1	0	0	0	0	1	0	0	0	13497	884	31	1	153	1	RNASE4	14	21167681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5789	21167681	86181859	10390	33892											
SLC39A2	29986	broad.mit.edu	37	chr14	21469172	21469172	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttctttttggagtcgCtggcattgcagtgctgtcct	3	18	11	9	1	2	0	0	0	2	0	4	1	3	1	1	2	2	4	1	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21469172C>A	ENST00000298681.4	+	4	521	c.364C>A	c.(364-366)Ctg>Atg	p.L122M	SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	122						cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		TTTGGAGTCGCTGGCATTGCA	0.502													A	21469172	C	A	21469172	3	1	364	1	0	0	0	0	1	0	0	0	14712	796	28	4	378	4	SLC39A2	14	21469172	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	301491	21469172	85880368	10391	33893											
RNASE7	84659	broad.mit.edu	37	chr14	21511156	21511156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcctaagagagatggCaccggccagagcaggattct	10	7	12	12	1	1	3	0	0	1	3	3	5	3	4	4	3	1	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21511156C>T	ENST00000298690.4	+	2	262	c.5C>T	c.(4-6)gCa>gTa	p.A2V	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	2					defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		AGAGAGATGGCACCGGCCAGA	0.577													T	21511156	C	T	21511156	3	4	364	1	0	0	0	0	1	0	0	0	13499	710	25	2	7	2	RNASE7	14	21511156	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41984	21511156	85838384	10392	33894											
RPGRIP1	57096	broad.mit.edu	37	chr14	21790062	21790062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatgataatagagatcAcaaagaaaagctggagaggt	19	7	11	4	0	1	5	1	2	0	3	1	7	1	5	0	2	1	1	0	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21790062A>G	ENST00000206660.6	+	13	1661	c.1661A>G	c.(1660-1662)cAc>cGc	p.H554R	RPGRIP1_ENST00000400017.2_Missense_Mutation_p.H554R|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.H527R|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.H527R|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.H196R			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	554				HK -> SQR (in Ref. 1; AAG10246).	response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AATAGAGATCACAAAGAAAAG	0.398													G	21790062	A	G	21790062	3	3	364	1	0	0	0	0	1	0	0	0	13640	159	6	3	1711	3	RPGRIP1	14	21790062	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278906	21790062	85559478	10393	33895											
RPGRIP1	57096	broad.mit.edu	37	chr14	21793078	21793078	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgatggagacagattcGcttttcttacactaccttca	10	15	7	9	1	2	3	1	1	1	2	3	4	2	3	1	1	2	1	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21793078G>A	ENST00000206660.6	+	14	2064	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	RPGRIP1_ENST00000307974.4_Silent_p.S47S|RPGRIP1_ENST00000400017.2_Silent_p.S688S|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000557771.1_Silent_p.S650S|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	688					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		AGACAGATTCGCTTTTCTTAC	0.502													A	21793078	G	A	21793078	2	1	364	1	0	0	0	0	0	0	0	1	13640	1074	38	1		1	RPGRIP1	14	21793078	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3016	21793078	85556462	10394	33896											
RPGRIP1	57096	broad.mit.edu	37	chr14	21794202	21794202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagtgcttgtgacctctgaCctggaccattatctgagacg	8	11	10	12	1	2	3	0	3	2	1	2	5	2	4	4	1	1	1	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21794202C>A	ENST00000206660.6	+	16	2580	c.2580C>A	c.(2578-2580)gaC>gaA	p.D860E	RPGRIP1_ENST00000307974.4_Missense_Mutation_p.D219E|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.D860E|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D822E|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	860	C2.				response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		TGACCTCTGACCTGGACCATT	0.502													A	21794202	C	A	21794202	3	1	364	1	0	0	0	0	1	0	0	0	13640	506	18	4	2642	4	RPGRIP1	14	21794202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1124	21794202	85555338	10395	33897											
SUPT16H	11198	broad.mit.edu	37	chr14	21825521	21825521	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaatgtcaccacaaaaGgtggctgtcagggagaaact	14	7	10	10	0	2	1	2	0	0	1	3	2	3	1	2	3	1	1	2	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21825521G>T	ENST00000216297.2	-	22	2833	c.2495C>A	c.(2494-2496)cCt>cAt	p.P832H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	832					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		CACCACAAAAGGTGGCTGTCA	0.388													T	21825521	G	T	21825521	3	4	364	1	0	0	0	0	1	0	0	0	15492	1000	35	4	668	4	SUPT16H	14	21825521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31319	21825521	85524019	10396	33898											
SUPT16H	11198	broad.mit.edu	37	chr14	21830380	21830380	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacaaaagtcgcttcaGggttaggaaagatgttgcct	11	11	11	8	1	1	2	1	1	0	1	2	3	1	3	2	2	1	3	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21830380G>T	ENST00000216297.2	-	15	2107	c.1769C>A	c.(1768-1770)cCt>cAt	p.P590H		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	590					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		AGTCGCTTCAGGGTTAGGAAA	0.433													T	21830380	G	T	21830380	3	4	364	1	0	0	0	0	1	0	0	0	15492	1000	35	4	1422	4	SUPT16H	14	21830380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4859	21830380	85519160	10397	33899											
METTL3	56339	broad.mit.edu	37	chr14	21967506	21967506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccttggggatttccttTgacaccaacctgctcaccac	9	10	8	14	0	1	1	1	1	0	0	2	3	2	2	5	2	3	1	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21967506T>C	ENST00000298717.4	-	9	1613	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E		NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	488					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		GGATTTCCTTTGACACCAACC	0.438													C	21967506	T	C	21967506	3	2	364	1	0	0	0	0	1	0	0	0	9576	1821	63	3	292	3	METTL3	14	21967506	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	137126	21967506	85382034	10398	33900											
METTL3	56339	broad.mit.edu	37	chr14	21971507	21971507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtcctgttctgcacgccGcttctgccctgtgacagtcc	4	11	10	16	3	2	1	0	1	2	0	4	2	4	1	4	0	2	3	4	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21971507G>A	ENST00000298717.4	-	3	683	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	178					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TCTGCACGCCGCTTCTGCCCT	0.552													A	21971507	G	A	21971507	3	1	364	1	0	0	0	0	1	0	0	0	9576	1086	38	1	1246	1	METTL3	14	21971507	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4001	21971507	85378033	10399	33901											
SALL2	6297	broad.mit.edu	37	chr14	21991466	21991466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgcctcttctgaatcacctCtcactgatattgccttctca	8	15	4	14	0	5	2	3	2	4	0	7	2	5	2	3	0	2	0	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21991466C>T	ENST00000327430.3	-	2	2690	c.2396G>A	c.(2395-2397)aGa>aAa	p.R799K	SALL2_ENST00000538754.1_Intron|SALL2_ENST00000450879.2_Missense_Mutation_p.R662K|SALL2_ENST00000317492.5_Intron	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	799							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		TGAATCACCTCTCACTGATAT	0.537													T	21991466	C	T	21991466	3	4	364	1	0	0	0	0	1	0	0	0	13902	913	32	2	631	2	SALL2	14	21991466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19959	21991466	85358074	10400	33902											
SALL2	6297	broad.mit.edu	37	chr14	21993529	21993529	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctctctgggccccaGgtgggatccgtgggcacgga	4	8	14	15	2	2	0	0	0	2	0	5	2	3	2	5	5	0	1	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:21993529G>T	ENST00000327430.3	-	2	627	c.333C>A	c.(331-333)acC>acA	p.T111T	SALL2_ENST00000538754.1_Silent_p.T109T|SALL2_ENST00000450879.2_Silent_p.T109T|SALL2_ENST00000317492.5_Silent_p.T111T	NM_005407.1	NP_005398.1	Q9Y467	SALL2_HUMAN	spalt-like transcription factor 2	111							DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(6)|urinary_tract(2)	43	all_cancers(95;0.000662)			GBM - Glioblastoma multiforme(265;0.0151)		CTGGGCCCCAGGTGGGATCCG	0.637													T	21993529	G	T	21993529	2	4	364	1	0	0	0	0	0	0	0	1	13902	987	35	4		4	SALL2	14	21993529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2063	21993529	85356011	10401	33903											
ABHD4	63874	broad.mit.edu	37	chr14	23079789	23079789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagggtgcctcccaccatGtctatgctgaccagccacac	9	9	8	15	0	1	1	0	1	1	0	2	1	2	1	5	1	3	1	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23079789G>A	ENST00000428304.2	+	7	1034	c.964G>A	c.(964-966)Gtc>Atc	p.V322I		NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	322					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		CTCCCACCATGTCTATGCTGA	0.527													A	23079789	G	A	23079789	3	1	364	1	0	0	0	0	1	0	0	0	84	1377	48	2	990	2	ABHD4	14	23079789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1086260	23079789	84269751	10402	33904											
PRMT5	10419	broad.mit.edu	37	chr14	23390200	23390200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccactcataccacaccttCttggaattgctgcatcgcca	9	10	6	16	1	2	0	1	0	1	0	3	1	2	1	4	1	3	2	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23390200C>T	ENST00000324366.8	-	17	2050	c.1827G>A	c.(1825-1827)aaG>aaA	p.K609K	PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Silent_p.K438K|PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000216350.8_Silent_p.K548K|PRMT5_ENST00000553897.1_Silent_p.K565K|PRMT5_ENST00000397441.2_Silent_p.K592K|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5_ENST00000538452.1_Silent_p.K503K	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	609					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		ACCACACCTTCTTGGAATTGC	0.522													T	23390200	C	T	23390200	2	4	364	1	0	0	0	0	0	0	0	1	12625	912	32	2		2	PRMT5	14	23390200	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	310411	23390200	83959340	10403	33905											
C14orf93	60686	broad.mit.edu	37	chr14	23468166	23468166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtctcactcttacaggCgcagcagcagcatctggcct	9	10	9	13	1	3	0	1	0	3	0	4	0	3	0	1	2	4	4	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23468166C>T	ENST00000299088.6	-	2	496	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	C14orf93_ENST00000397377.1_Intron|C14orf93_ENST00000341470.4_Missense_Mutation_p.A23T|C14orf93_ENST00000397382.4_Missense_Mutation_p.A23T|RP11-298I3.4_ENST00000556503.1_RNA|C14orf93_ENST00000406429.2_Missense_Mutation_p.A23T|C14orf93_ENST00000397379.3_Missense_Mutation_p.A23T	NM_001130708.1|NM_021944.2	NP_001124180.1|NP_068763.2	Q9H972	CN093_HUMAN	chromosome 14 open reading frame 93	23	Poly-Cys.					extracellular region				kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	17	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0127)		CTCTTACAGGCGCAGCAGCAG	0.587													T	23468166	C	T	23468166	3	4	364	1	0	0	0	0	1	0	0	0	1795	768	27	1	1573	1	C14orf93	14	23468166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77966	23468166	83881374	10404	33906											
PSMB5	5693	broad.mit.edu	37	chr14	23495491	23495491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcataggaatagcccCgatccatgaccccatatgca	12	7	8	14	1	1	1	1	1	0	0	2	3	2	2	6	2	2	1	6	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23495491C>T	ENST00000361611.6	-	3	862	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	PSMB5_ENST00000493471.2_3'UTR|PSMB5_ENST00000425762.2_Missense_Mutation_p.R97Q|PSMB5_ENST00000460922.2_3'UTR	NM_002797.3	NP_002788.1	P28074	PSB5_HUMAN	proteasome (prosome, macropain) subunit, beta type, 5	200					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus	protein binding|threonine-type endopeptidase activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.0121)	Bortezomib(DB00188)	GGAATAGCCCCGATCCATGAC	0.552													T	23495491	C	T	23495491	3	4	364	1	0	0	0	0	1	0	0	0	12765	652	23	1	196	1	PSMB5	14	23495491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27325	23495491	83854049	10405	33907											
PSMB11	122706	broad.mit.edu	37	chr14	23511605	23511605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accactctggccttccgcttCcgtcatggagtcattgctgc	5	12	9	15	2	3	0	2	0	1	0	5	1	5	1	4	2	2	2	4	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511605C>T	ENST00000408907.2	+	1	230	c.171C>T	c.(169-171)ttC>ttT	p.F57F		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	57					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		CCTTCCGCTTCCGTCATGGAG	0.637													T	23511605	C	T	23511605	2	4	364	1	0	0	0	0	0	0	0	1	12761	854	30	2		2	PSMB11	14	23511605	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16114	23511605	83837935	10406	33908											
PSMB11	122706	broad.mit.edu	37	chr14	23511750	23511750	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgactgtgctacctggtatCgggtattacagcgggagctg	7	10	14	10	3	0	0	0	0	0	0	1	2	0	1	2	3	5	4	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23511750C>T	ENST00000408907.2	+	1	375	c.316C>T	c.(316-318)Cgg>Tgg	p.R106W		NM_001099780.1	NP_001093250.1	A5LHX3	PSB11_HUMAN	proteasome (prosome, macropain) subunit, beta type, 11	106					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(1)|kidney(2)|lung(4)	7	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00643)		TACCTGGTATCGGGTATTACA	0.597													T	23511750	C	T	23511750	3	4	364	1	0	0	0	0	1	0	0	0	12761	875	31	1	318	1	PSMB11	14	23511750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145	23511750	83837790	10407	33909											
CDH24	64403	broad.mit.edu	37	chr14	23523968	23523968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctcaccagtctgggggtCcacagagaagaaaggcagtc	12	6	12	11	0	2	2	1	0	1	2	5	3	4	2	3	3	0	1	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23523968C>T	ENST00000397359.3	-	4	863	c.604G>A	c.(604-606)Gac>Aac	p.D202N	CDH24_ENST00000554034.1_Missense_Mutation_p.D202N|CDH24_ENST00000267383.5_Missense_Mutation_p.D202N|CDH24_ENST00000487137.2_Missense_Mutation_p.D202N	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	202	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GTCTGGGGGTCCACAGAGAAG	0.592											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	23523968	C	T	23523968	3	4	364	1	0	0	0	0	1	0	0	0	3139	855	30	2	1895	2	CDH24	14	23523968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12218	23523968	83825572	10408	33910											
ACIN1	22985	broad.mit.edu	37	chr14	23528361	23528361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctagtgttttcccagctagCggcgcccaccccggtcccgc	4	9	10	18	4	1	0	0	0	1	0	3	0	3	0	5	2	2	2	5	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23528361C>T	ENST00000262710.1	-	19	4349	c.4022G>A	c.(4021-4023)cGc>cAc	p.R1341H	ACIN1_ENST00000555053.1_Missense_Mutation_p.R1328H|ACIN1_ENST00000338631.6_Missense_Mutation_p.R614H|ACIN1_ENST00000357481.2_Missense_Mutation_p.R583H|ACIN1_ENST00000557515.1_Missense_Mutation_p.R582H|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1301H|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1283H|ACIN1_ENST00000397341.3_Missense_Mutation_p.R583H	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1341	Arg/Asp/Glu/Lys-rich.				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCCCAGCTAGCGGCGCCCACC	0.652											OREG0022595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	23528361	C	T	23528361	3	4	364	1	0	0	0	0	1	0	0	0	142	768	27	1	7	1	ACIN1	14	23528361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4393	23528361	83821179	10409	33911											
ACIN1	22985	broad.mit.edu	37	chr14	23549097	23549097	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacattcttcagtgattcCtttggccagtgctaattcct	8	15	7	11	0	2	2	1	1	1	1	4	2	4	2	3	1	1	1	3	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549097C>A	ENST00000262710.1	-	6	1948	c.1621G>T	c.(1621-1623)Gga>Tga	p.G541*	ACIN1_ENST00000555053.1_Nonsense_Mutation_p.G541*|ACIN1_ENST00000457657.1_Nonsense_Mutation_p.G501*|ACIN1_ENST00000605057.1_Nonsense_Mutation_p.G483*	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	541					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TCAGTGATTCCTTTGGCCAGT	0.483													A	23549097	C	A	23549097	4	1	364	1	0	0	0	0	0	1	0	0	142	690	24	4	2607	4	ACIN1	14	23549097	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20736	23549097	83800443	10410	33912											
ACIN1	22985	broad.mit.edu	37	chr14	23549333	23549333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagatactaatagctccCtggtgtcagcatctgtatta	10	13	9	9	0	2	1	1	1	1	1	3	2	3	1	1	1	3	4	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23549333C>A	ENST00000262710.1	-	6	1712	c.1385G>T	c.(1384-1386)aGg>aTg	p.R462M	ACIN1_ENST00000555053.1_Missense_Mutation_p.R462M|ACIN1_ENST00000457657.1_Missense_Mutation_p.R422M|ACIN1_ENST00000605057.1_Missense_Mutation_p.R404M	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	462					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		TAATAGCTCCCTGGTGTCAGC	0.502													A	23549333	C	A	23549333	3	1	364	1	0	0	0	0	1	0	0	0	142	681	24	4	2843	4	ACIN1	14	23549333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236	23549333	83800207	10411	33913											
CEBPE	1053	broad.mit.edu	37	chr14	23586947	23586947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggctatctttgttcactgCcttcttgcccttgtgtaagg	6	16	9	10	0	3	0	1	0	2	0	3	0	3	0	2	2	2	3	2	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23586947C>T	ENST00000206513.5	-	2	1119	c.595G>A	c.(595-597)Gca>Aca	p.A199T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	199						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TTGTTCACTGCCTTCTTGCCC	0.647													T	23586947	C	T	23586947	3	4	364	1	0	0	0	0	1	0	0	0	3232	739	26	2	254	2	CEBPE	14	23586947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37614	23586947	83762593	10412	33914											
CEBPE	1053	broad.mit.edu	37	chr14	23587828	23587828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccgggtgctgccagaGttgggggcaggtgcatggct	4	8	20	9	1	0	1	0	0	0	1	0	1	0	1	2	6	3	6	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23587828G>A	ENST00000206513.5	-	1	997	c.473C>T	c.(472-474)aCt>aTt	p.T158I		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	158						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TGCTGCCAGAGTTGGGGGCAG	0.682													A	23587828	G	A	23587828	3	1	364	1	0	0	0	0	1	0	0	0	3232	1029	36	2	380	2	CEBPE	14	23587828	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	881	23587828	83761712	10413	33915											
CEBPE	1053	broad.mit.edu	37	chr14	23588171	23588171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccagactcgatgtaggCggagaggtcaatggaggcct	9	8	14	10	2	1	2	1	0	0	2	3	5	2	3	3	5	0	1	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23588171C>T	ENST00000206513.5	-	1	654	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_001805.3	NP_001796.2	Q15744	CEBPE_HUMAN	CCAAT/enhancer binding protein (C/EBP), epsilon	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)	9	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.0064)		TCGATGTAGGCGGAGAGGTCA	0.662													T	23588171	C	T	23588171	3	4	364	1	0	0	0	0	1	0	0	0	3232	768	27	1	723	1	CEBPE	14	23588171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343	23588171	83761369	10414	33916											
PABPN1	8106	broad.mit.edu	37	chr14	23793493	23793493	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggccccggggtcgcgtCtacaggtcaggatagatggg	8	6	17	10	3	2	1	1	0	1	1	3	2	2	2	2	6	2	1	2	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23793493C>A	ENST00000397276.2	+	6	889	c.876C>A	c.(874-876)gtC>gtA	p.V292V	BCL2L2-PABPN1_ENST00000553781.1_Silent_p.V319V|PABPN1_ENST00000556821.1_Silent_p.V164V|BCL2L2-PABPN1_ENST00000557008.1_Silent_p.V319V|PABPN1_ENST00000216727.4_Silent_p.V292V|PABPN1_ENST00000557702.1_Silent_p.V164V					poly(A) binding protein, nuclear 1											large_intestine(1)|lung(1)|ovary(2)	4	all_cancers(95;6.69e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GGGGTCGCGTCTACAGGTCAG	0.637													A	23793493	C	A	23793493	2	1	364	1	0	0	0	0	0	0	0	1	11444	900	32	4		4	PABPN1	14	23793493	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205322	23793493	83556047	10415	33917											
SLC22A17	51310	broad.mit.edu	37	chr14	23818480	23818480	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgggagggtgccacttaCgcatcaggtagacacccagg	9	8	13	11	1	2	1	1	0	1	1	2	2	2	2	2	4	2	2	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23818480C>T	ENST00000354772.3	-	4	1030		c.e4+1		SLC22A17_ENST00000397260.3_Splice_Site|SLC22A17_ENST00000206544.8_Splice_Site|SLC22A17_ENST00000474057.1_Splice_Site|SLC22A17_ENST00000397267.1_Splice_Site	NM_016609.3	NP_057693.3	Q8WUG5	S22AH_HUMAN	solute carrier family 22, member 17						siderophore transport	integral to organelle membrane|integral to plasma membrane|vacuolar membrane	transmembrane receptor activity|transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15	all_cancers(95;7.12e-06)			GBM - Glioblastoma multiforme(265;0.00643)		GTGCCACTTACGCATCAGGTA	0.617													T	23818480	C	T	23818480	5	4	364	1	0	0	0	0	0	0	1	0	14542	550	19	1	1117	1	SLC22A17	14	23818480	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24987	23818480	83531060	10416	33918											
CMTM5	116173	broad.mit.edu	37	chr14	23848328	23848328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacggagctgccattgctgCttttgtgagttcagccctgc	5	12	13	11	1	1	1	1	1	0	0	1	3	1	3	2	2	6	4	2	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23848328C>T	ENST00000359320.3	+	3	812	c.368C>T	c.(367-369)gCt>gTt	p.A123V	CMTM5_ENST00000339180.4_Missense_Mutation_p.A190V|CMTM5_ENST00000555731.1_Missense_Mutation_p.A85V|CMTM5_ENST00000397227.3_Missense_Mutation_p.A72V|CMTM5_ENST00000382809.2_Intron|CMTM5_ENST00000342473.4_Intron	NM_138460.2	NP_612469.1	Q96DZ9	CKLF5_HUMAN	CKLF-like MARVEL transmembrane domain containing 5	190	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	8	all_cancers(95;2e-05)			GBM - Glioblastoma multiforme(265;0.0064)|READ - Rectum adenocarcinoma(4;0.0276)|Colorectal(4;0.0382)		GCCATTGCTGCTTTTGTGAGT	0.582													T	23848328	C	T	23848328	3	4	364	1	0	0	0	0	1	0	0	0	3617	797	28	2	378	2	CMTM5	14	23848328	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29848	23848328	83501212	10417	33919											
MYH6	4624	broad.mit.edu	37	chr14	23871975	23871975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccctgagacacgaaggcGtagtcgtagggattgttggt	8	11	14	8	3	1	1	0	1	1	1	3	4	1	2	1	3	0	3	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23871975G>A	ENST00000405093.3	-	11	1003	c.933C>T	c.(931-933)taC>taT	p.Y311Y	MYH6_ENST00000356287.3_Silent_p.Y311Y	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	311	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		ACACGAAGGCGTAGTCGTAGG	0.642													A	23871975	G	A	23871975	2	1	364	1	0	0	0	0	0	0	0	1	10114	1140	40	1		1	MYH6	14	23871975	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23647	23871975	83477565	10418	33920											
MYH7	4625	broad.mit.edu	37	chr14	23884263	23884263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgcccttcaccgactctgCgttgcgcttctgctcggcct	3	12	9	17	4	3	0	1	0	2	0	4	1	3	0	3	1	4	3	3	1	0	3	rs143362532		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23884263C>T	ENST00000355349.3	-	37	5662	c.5500G>A	c.(5500-5502)Gca>Aca	p.A1834T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1834					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		ACCGACTCTGCGTTGCGCTTC	0.647													T	23884263	C	T	23884263	3	4	364	1	0	0	0	0	1	0	0	0	10115	768	27	1	323	1	MYH7	14	23884263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12288	23884263	83465277	10419	33921											
MYH7	4625	broad.mit.edu	37	chr14	23892915	23892915	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagcccagccatctcCtctgtcaggtttttcacctg	6	13	6	16	0	5	0	3	0	2	0	7	0	6	0	5	1	2	1	5	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23892915C>A	ENST00000355349.3	-	24	3102	c.2940G>T	c.(2938-2940)gaG>gaT	p.E980D		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	980					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CAGCCATCTCCTCTGTCAGGT	0.552													A	23892915	C	A	23892915	3	1	364	1	0	0	0	0	1	0	0	0	10115	680	24	4	2935	4	MYH7	14	23892915	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8652	23892915	83456625	10420	33922											
MYH7	4625	broad.mit.edu	37	chr14	23893176	23893176	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtcagctccagatcatcGatgtcccttttgagctctga	8	13	9	11	1	3	3	2	2	1	1	6	4	5	3	2	0	2	2	2	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893176G>A	ENST00000355349.3	-	23	3024	c.2862C>T	c.(2860-2862)atC>atT	p.I954I		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	954					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCAGATCATCGATGTCCCTTT	0.537													A	23893176	G	A	23893176	2	1	364	1	0	0	0	0	0	0	0	1	10115	1048	37	1		1	MYH7	14	23893176	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261	23893176	83456364	10421	33923											
MYH7	4625	broad.mit.edu	37	chr14	23893260	23893260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatctcctcctcatcctcCagcctctcgttcatctcctt	4	16	2	19	1	6	0	3	0	3	0	12	0	9	0	6	0	1	1	6	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23893260C>T	ENST00000355349.3	-	23	2940	c.2778G>A	c.(2776-2778)ctG>ctA	p.L926L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	926					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCATCCTCCAGCCTCTCGT	0.517													T	23893260	C	T	23893260	2	4	364	1	0	0	0	0	0	0	0	1	10115	581	21	2		2	MYH7	14	23893260	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84	23893260	83456280	10422	33924											
MYH7	4625	broad.mit.edu	37	chr14	23894044	23894044	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcttctcctccagctcCttgcggcgagcctcggactt	5	11	8	17	3	2	0	0	0	2	0	6	2	4	1	5	2	3	1	5	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894044C>A	ENST00000355349.3	-	22	2775	c.2613G>T	c.(2611-2613)aaG>aaT	p.K871N		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	871					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		CCTCCAGCTCCTTGCGGCGAG	0.587													A	23894044	C	A	23894044	3	1	364	1	0	0	0	0	1	0	0	0	10115	680	24	4	3270	4	MYH7	14	23894044	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	784	23894044	83455496	10423	33925											
MYH7	4625	broad.mit.edu	37	chr14	23894525	23894525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttgtactccattctggCgagcacacctcgggactggg	6	12	11	12	2	1	0	0	0	1	0	3	2	2	1	2	3	2	2	2	3	1	4	rs3218716	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23894525C>T	ENST00000355349.3	-	21	2551	c.2389G>A	c.(2389-2391)Gcc>Acc	p.A797T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	797	IQ.		A -> T (in CMH1; dbSNP:rs3218716).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCCATTCTGGCGAGCACACCT	0.597													T	23894525	C	T	23894525	3	4	364	1	0	0	0	0	1	0	0	0	10115	768	27	1	3498	1	MYH7	14	23894525	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481	23894525	83455015	10424	33926											
MYH7	4625	broad.mit.edu	37	chr14	23897873	23897873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcagagctgctcaaagcTgttgaactgcagggggcatg	10	8	15	8	0	1	2	1	1	0	1	1	3	1	2	0	2	6	7	0	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23897873T>C	ENST00000355349.3	-	15	1576	c.1414A>G	c.(1414-1416)Agc>Ggc	p.S472G		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	472	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGCTCAAAGCTGTTGAACTGC	0.582													C	23897873	T	C	23897873	3	2	364	1	0	0	0	0	1	0	0	0	10115	1580	55	3	4497	3	MYH7	14	23897873	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3348	23897873	83451667	10425	33927											
MYH7	4625	broad.mit.edu	37	chr14	23900677	23900677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttgccccaaaatgaattCgaatgaatttcccctggaga	12	11	8	10	1	0	3	0	2	0	1	2	5	1	3	4	1	1	1	4	1	5	3	rs3218713		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:23900677C>T	ENST00000355349.3	-	9	908	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	249	Myosin head-like.		R -> Q (in CMH1; dbSNP:rs3218713).		adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		AAAATGAATTCGAATGAATTT	0.507													T	23900677	C	T	23900677	3	4	364	1	0	0	0	0	1	0	0	0	10115	884	31	1	5189	1	MYH7	14	23900677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2804	23900677	83448863	10426	33928											
THTPA	79178	broad.mit.edu	37	chr14	24026141	24026141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggctgcgacgacgagagGatagtggatgggagctcaaa	12	6	16	7	3	1	1	1	0	0	1	1	7	1	4	0	4	2	2	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026141G>T	ENST00000288014.6	+	1	911	c.175G>T	c.(175-177)Gat>Tat	p.D59Y	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554789.1_Missense_Mutation_p.D59Y|THTPA_ENST00000554970.1_Missense_Mutation_p.D59Y|THTPA_ENST00000404535.3_Missense_Mutation_p.D59Y|RP11-66N24.4_ENST00000555446.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	59					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	ACGACGAGAGGATAGTGGATG	0.582													T	24026141	G	T	24026141	3	4	364	1	0	0	0	0	1	0	0	0	15981	1174	41	4	177	4	THTPA	14	24026141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125464	24026141	83323399	10427	33929											
THTPA	79178	broad.mit.edu	37	chr14	24026216	24026216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtataaggaactcacaGcggaacctacaattgtggcc	13	7	11	10	2	1	0	1	0	0	0	1	3	1	3	2	4	4	1	2	4	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24026216G>A	ENST00000288014.6	+	1	986	c.250G>A	c.(250-252)Gcg>Acg	p.A84T	RP11-66N24.4_ENST00000556354.1_RNA|RP11-66N24.4_ENST00000553985.1_RNA|THTPA_ENST00000556015.1_Missense_Mutation_p.A84T|THTPA_ENST00000554789.1_Missense_Mutation_p.A84T|THTPA_ENST00000554970.1_Missense_Mutation_p.A84T|THTPA_ENST00000404535.3_Missense_Mutation_p.A84T|RP11-66N24.4_ENST00000555446.1_RNA			Q9BU02	THTPA_HUMAN	thiamine triphosphatase	84					dephosphorylation|generation of precursor metabolites and energy|thiamine metabolic process	cytosol|nucleolus|soluble fraction	thiamin-triphosphatase activity			large_intestine(1)|prostate(2)	3	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00643)	Thiamine(DB00152)	GGAACTCACAGCGGAACCTAC	0.602													A	24026216	G	A	24026216	3	1	364	1	0	0	0	0	1	0	0	0	15981	971	34	2	252	2	THTPA	14	24026216	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	24026216	83323324	10428	33930											
AP1G2	8906	broad.mit.edu	37	chr14	24031799	24031799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctgccacctgcaccagtgGttgctacatgggataagaaa	11	8	12	10	0	0	1	0	0	0	1	0	2	0	2	3	3	4	4	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24031799G>A	ENST00000308724.5	-	14	2169	c.1414C>T	c.(1414-1416)Cca>Tca	p.P472S	AP1G2_ENST00000397120.3_Missense_Mutation_p.P472S|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	472					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		TGCACCAGTGGTTGCTACATG	0.592											OREG0022605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24031799	G	A	24031799	3	1	364	1	0	0	0	0	1	0	0	0	735	1261	44	2	975	2	AP1G2	14	24031799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5583	24031799	83317741	10429	33931											
AP1G2	8906	broad.mit.edu	37	chr14	24034396	24034396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccaggatccgaagcagacGaagtatctggacctgaggtt	11	7	13	10	2	1	2	0	1	1	1	2	6	2	4	3	3	1	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24034396G>A	ENST00000308724.5	-	7	1509	c.754C>T	c.(754-756)Cgt>Tgt	p.R252C	AP1G2_ENST00000397120.3_Missense_Mutation_p.R252C|AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	252					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CGAAGCAGACGAAGTATCTGG	0.557													A	24034396	G	A	24034396	3	1	364	1	0	0	0	0	1	0	0	0	735	1058	37	1	1663	1	AP1G2	14	24034396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2597	24034396	83315144	10430	33932											
DHRS2	10202	broad.mit.edu	37	chr14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagcactgtgggggcGtcgacttcctggtgtgcagc	4	9	16	12	2	0	0	0	0	0	0	2	2	1	1	2	4	3	2	2	4	0	1	rs146408773		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24109024G>A	ENST00000250383.6	+	4	816	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_ENST00000553896.1_3'UTR|DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642													A	24109024	G	A	24109024	3	1	364	1	0	0	0	0	1	0	0	0	4529	1145	40	1	350	1	DHRS2	14	24109024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74628	24109024	83240516	10431	33933											
LRRC16B	90668	broad.mit.edu	37	chr14	24528897	24528897	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcctatgggatcggaacaaTacatctgccctgggcttcct	9	11	9	12	1	1	0	0	0	1	0	4	2	3	2	3	3	3	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24528897T>C	ENST00000342740.5	+	22	1978	c.1824T>C	c.(1822-1824)aaT>aaC	p.N608N	LRRC16B_ENST00000334420.7_5'UTR	NM_138360.3	NP_612369.3	Q8ND23	LR16B_HUMAN	leucine rich repeat containing 16B	608										breast(3)|central_nervous_system(2)|cervix(3)|endometrium(7)|kidney(1)|large_intestine(9)|liver(1)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	52				GBM - Glioblastoma multiforme(265;0.019)		ATCGGAACAATACATCTGCCC	0.592													C	24528897	T	C	24528897	2	2	364	1	0	0	0	0	0	0	0	1	9042	1403	49	3		3	LRRC16B	14	24528897	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	419873	24528897	82820643	10432	33934											
PCK2	5106	broad.mit.edu	37	chr14	24569430	24569430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggaaacctggtatgtgCggtggggaaggtgtggcaca	8	8	17	8	1	0	0	0	0	0	0	0	2	0	2	2	7	2	2	2	7	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24569430C>T	ENST00000396973.4	+	7	1489	c.1242C>T	c.(1240-1242)tgC>tgT	p.C414C	NRL_ENST00000561028.1_Intron|PCK2_ENST00000216780.4_Intron|PCK2_ENST00000559250.1_Intron|PCK2_ENST00000561286.1_Intron|PCK2_ENST00000558096.1_Intron|PCK2_ENST00000545054.2_Intron	NM_001018073.1	NP_001018083.1	Q16822	PCKGM_HUMAN	phosphoenolpyruvate carboxykinase 2 (mitochondrial)	0					gluconeogenesis	mitochondrial matrix	GTP binding|metal ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			breast(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(265;0.0184)		CTGGTATGTGCGGTGGGGAAG	0.577													T	24569430	C	T	24569430	2	4	364	1	0	0	0	0	0	0	0	1	11658	776	27	1		1	PCK2	14	24569430	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40533	24569430	82780110	10433	33935											
DCAF11	80344	broad.mit.edu	37	chr14	24588928	24588928	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttcgcctagattgagtcCcatgaggatgatgtgaatgc	9	13	11	8	1	0	5	0	4	0	1	2	6	1	6	2	1	1	0	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24588928C>A	ENST00000446197.3	+	11	1642	c.915C>A	c.(913-915)tcC>tcA	p.S305S	DCAF11_ENST00000396941.4_Silent_p.S279S|DCAF11_ENST00000396936.1_Silent_p.S205S|DCAF11_ENST00000559115.1_Silent_p.S305S	NM_025230.4	NP_079506.3	Q8TEB1	DCA11_HUMAN	DDB1 and CUL4 associated factor 11	305						CUL4 RING ubiquitin ligase complex	protein binding										AGATTGAGTCCCATGAGGATG	0.483													A	24588928	C	A	24588928	2	1	364	1	0	0	0	0	0	0	0	1	4296	610	22	4		4	DCAF11	14	24588928	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19498	24588928	82760612	10434	33936											
FITM1	161247	broad.mit.edu	37	chr14	24600812	24600812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggcaggactgggggccGgggcccgaatccaggcactg	6	4	20	11	2	0	0	0	0	0	0	1	2	1	1	3	8	0	2	3	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24600812G>A	ENST00000267426.5	+	1	329	c.40G>A	c.(40-42)Ggg>Agg	p.G14R	RP11-468E2.6_ENST00000558325.1_Missense_Mutation_p.R201Q	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	14					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						actgggggccggggcCCGAAT	0.677													A	24600812	G	A	24600812	3	1	364	1	0	0	0	0	1	0	0	0	5947	1116	39	1	42	1	FITM1	14	24600812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11884	24600812	82748728	10435	33937											
FITM1	161247	broad.mit.edu	37	chr14	24601453	24601453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcctggggctggacatgCactttcttagggggctttgt	5	13	14	9	0	2	0	1	0	1	0	2	1	2	1	1	5	2	3	1	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24601453C>G	ENST00000267426.5	+	2	589	c.300C>G	c.(298-300)tgC>tgG	p.C100W	FITM1_ENST00000559294.1_5'UTR	NM_203402.2	NP_981947.1	A5D6W6	FITM1_HUMAN	fat storage-inducing transmembrane protein 1	100					lipid particle organization|positive regulation of sequestering of triglyceride	endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	11						GCTGGACATGCACTTTCTTAG	0.567													G	24601453	C	G	24601453	3	3	364	1	0	0	0	0	1	0	0	0	5947	718	25	4	306	4	FITM1	14	24601453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	641	24601453	82748087	10436	33938											
IRF9	10379	broad.mit.edu	37	chr14	24620580	24620580	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtgtgtgaggaccaggCgaaggaaggtatcagctgtg	11	7	18	5	1	1	1	1	1	0	0	1	5	1	4	1	5	1	2	1	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24620580C>T	ENST00000558468.1	+	1	154	c.154C>T	c.(154-156)Cga>Tga	p.R52*	RNF31_ENST00000382687.3_Nonsense_Mutation_p.R426*|RNF31_ENST00000559275.1_Nonsense_Mutation_p.R426*|RNF31_ENST00000324103.6_Nonsense_Mutation_p.R577*																							GAGGACCAGGCGAAGGAAGGT	0.577													T	24620580	C	T	24620580	4	4	364	1	0	0	0	0	0	1	0	0	7895	760	27	1		1	IRF9	14	24620580	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19127	24620580	82728960	10437	33939											
IRF9	10379	broad.mit.edu	37	chr14	24621172	24621172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgcccaggagtgtgccGtgtgtggctgggccctgccc	2	10	16	13	1	0	0	0	0	0	0	0	1	0	1	4	3	4	2	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24621172G>A	ENST00000558468.1	+	3	526	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	RNF31_ENST00000382687.3_Missense_Mutation_p.V550M|RNF31_ENST00000559275.1_Missense_Mutation_p.V550M|RNF31_ENST00000324103.6_Missense_Mutation_p.V701M																							GGAGTGTGCCGTGTGTGGCTG	0.602													A	24621172	G	A	24621172	3	1	364	1	0	0	0	0	1	0	0	0	7895	1145	40	1		1	IRF9	14	24621172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	592	24621172	82728368	10438	33940											
IRF9	10379	broad.mit.edu	37	chr14	24626551	24626551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacttccagaactggaaacGcatgaacgacccagaatacc	15	5	9	12	2	0	3	0	1	0	2	1	6	1	5	3	2	4	1	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24626551G>T	ENST00000558468.1	+	7	971	c.971G>T	c.(970-972)cGc>cTc	p.R324L	RNF31_ENST00000382687.3_Missense_Mutation_p.R698L|RNF31_ENST00000559275.1_Missense_Mutation_p.R698L|RNF31_ENST00000324103.6_Missense_Mutation_p.R849L																							AACTGGAAACGCATGAACGAC	0.562													T	24626551	G	T	24626551	3	4	364	1	0	0	0	0	1	0	0	0	7895	1087	38	4		4	IRF9	14	24626551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5379	24626551	82722989	10439	33941											
IRF9	10379	broad.mit.edu	37	chr14	24632221	24632221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taaggagggggacacaggagGtccagctgtctggaagactc	11	6	16	8	0	1	1	0	0	1	1	3	5	2	5	1	6	1	1	1	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24632221G>A	ENST00000396864.3	+	3	514	c.227G>A	c.(226-228)gGt>gAt	p.G76D	IRF9_ENST00000557894.1_5'UTR|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	76					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		GACACAGGAGGTCCAGCTGTC	0.537													A	24632221	G	A	24632221	3	1	364	1	0	0	0	0	1	0	0	0	7895	1261	44	2	233	2	IRF9	14	24632221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5670	24632221	82717319	10440	33942											
IRF9	10379	broad.mit.edu	37	chr14	24633164	24633164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcagccctgagccacaGgaaggtaccacctgccctgc	10	4	11	16	0	0	1	0	1	0	0	0	2	0	2	5	2	7	3	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24633164G>T	ENST00000396864.3	+	5	860	c.573G>T	c.(571-573)caG>caT	p.Q191H	IRF9_ENST00000557894.1_Missense_Mutation_p.Q89H|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	191					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CTGAGCCACAGGAAGGTACCA	0.607													T	24633164	G	T	24633164	3	4	364	1	0	0	0	0	1	0	0	0	7895	991	35	4	587	4	IRF9	14	24633164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	943	24633164	82716376	10441	33943											
REC8	9985	broad.mit.edu	37	chr14	24647340	24647340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgccgccgccgtcgtcGccggttactgttctgggaca	3	10	12	16	7	1	0	0	0	1	0	5	1	2	1	5	2	1	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24647340G>A	ENST00000311457.3	+	13	1504	c.905G>A	c.(904-906)cGc>cAc	p.R302H	REC8_ENST00000559919.1_Missense_Mutation_p.R302H			O95072	REC8_HUMAN	REC8 meiotic recombination protein	303	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		CGCCGTCGTCGCCGGTTACTG	0.612													A	24647340	G	A	24647340	3	1	364	1	0	0	0	0	1	0	0	0	13287	1087	38	1	951	1	REC8	14	24647340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14176	24647340	82702200	10442	33944											
REC8	9985	broad.mit.edu	37	chr14	24649283	24649283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcctcctgatccagccGgggcccagattccactgagg	6	7	13	15	2	0	3	0	2	0	1	4	3	3	3	6	4	1	0	6	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24649283G>A	ENST00000311457.3	+	20	2222	c.1623G>A	c.(1621-1623)ccG>ccA	p.P541P	REC8_ENST00000559919.1_Silent_p.P541P|REC8_ENST00000559939.1_3'UTR			O95072	REC8_HUMAN	REC8 meiotic recombination protein	542					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		TGATCCAGCCGGGGCCCAGAT	0.557													A	24649283	G	A	24649283	2	1	364	1	0	0	0	0	0	0	0	1	13287	1103	39	1		1	REC8	14	24649283	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1943	24649283	82700257	10443	33945											
IPO4	79711	broad.mit.edu	37	chr14	24656974	24656974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaaaaatggtggctgagaGctgggccaggctgaggctca	10	7	16	8	1	1	2	1	2	0	1	2	4	1	2	1	5	1	4	1	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24656974G>A	ENST00000354464.6	-	5	483	c.307C>T	c.(307-309)Ctc>Ttc	p.L103F	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	103					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		GTGGCTGAGAGCTGGGCCAGG	0.572													A	24656974	G	A	24656974	3	1	364	1	0	0	0	0	1	0	0	0	7853	971	34	2	3042	2	IPO4	14	24656974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7691	24656974	82692566	10444	33946											
MDP1	145553	broad.mit.edu	37	chr14	24683347	24683347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccattctggatgtgaatGcaggtaacacctagaaagat	14	11	9	7	0	1	3	0	1	1	2	2	4	2	4	2	2	2	2	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24683347G>A	ENST00000396833.2	-	5	383	c.274C>T	c.(274-276)Cat>Tat	p.H92Y	AL136419.6_ENST00000565988.1_RNA|MDP1_ENST00000532557.1_5'UTR|NEDD8-MDP1_ENST00000534348.1_Silent_p.C155C|MDP1_ENST00000288087.7_Silent_p.C138C	NM_001199821.1	NP_001186750.1			magnesium-dependent phosphatase 1											breast(2)|large_intestine(2)|lung(3)	7						GGATGTGAATGCAGGTAACAC	0.433													A	24683347	G	A	24683347	3	1	364	1	0	0	0	0	1	0	0	0	9491	1311	46	2	120	2	MDP1	14	24683347	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26373	24683347	82666193	10445	33947											
GMPR2	51292	broad.mit.edu	37	chr14	24705324	24705324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtaaaagatgtacggaagcGcttcccccagcacaccatca	13	7	8	13	2	1	1	1	0	0	1	2	2	2	2	3	1	3	4	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24705324G>A	ENST00000557854.1	+	4	774	c.497G>A	c.(496-498)cGc>cAc	p.R166H	GMPR2_ENST00000559104.1_Intron|GMPR2_ENST00000559836.1_Missense_Mutation_p.R148H|GMPR2_ENST00000420554.2_Missense_Mutation_p.R166H|GMPR2_ENST00000355299.4_Missense_Mutation_p.R148H|GMPR2_ENST00000399440.2_Missense_Mutation_p.R148H|GMPR2_ENST00000559910.1_Intron|GMPR2_ENST00000456667.3_Missense_Mutation_p.R120H|GMPR2_ENST00000348719.7_Missense_Mutation_p.R148H	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	148					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		GTACGGAAGCGCTTCCCCCAG	0.438													A	24705324	G	A	24705324	3	1	364	1	0	0	0	0	1	0	0	0	6553	1087	38	1	511	1	GMPR2	14	24705324	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21977	24705324	82644216	10446	33948											
TINF2	26277	broad.mit.edu	37	chr14	24709323	24709324	+	Frame_Shift_Ins	INS	-	-	A																															gagtctaaaaccaagtccccINStatggtaatgacggagctgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24709323_24709324insA	ENST00000267415.7	-	8	1508_1509	c.1167_1168insT	c.(1165-1170)atagggfs	p.G390fs	TINF2_ENST00000538777.1_3'UTR|TINF2_ENST00000540705.1_Frame_Shift_Ins_p.G355fs|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000399423.4_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	390					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		ACCAAGTCCCCTATGGTAATGA	0.5									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				A	24709324	-	A	24709323	7	5	364	1	0	1	1	0	0	0	0	0	16023	681	24	0	195	0	TINF2	14	24709323	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3999	24709323	82640217	10447	33949											
RABGGTA	5875	broad.mit.edu	37	chr14	24737353	24737353	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctcctgcagctccttacaGgattccagctcagactgcag	9	9	9	14	0	1	1	1	0	0	1	4	2	4	2	3	1	6	5	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24737353G>T	ENST00000560777.1	-	0	555				RABGGTA_ENST00000216840.6_Silent_p.S370S|RABGGTA_ENST00000399409.3_Silent_p.S370S			Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit						visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCTCCTTACAGGATTCCAGCT	0.592													T	24737353	G	T	24737353	1	4	364	1	0	0	0	0	0	0	0	0	13055	987	35	4		4	RABGGTA	14	24737353	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28030	24737353	82612187	10448	33950											
LTB4R2	56413	broad.mit.edu	37	chr14	24780618	24780618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccttctgcaggcggtcGcagcgctggctccaccggaa	7	7	12	15	4	2	0	1	0	1	0	4	1	3	1	3	4	3	4	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24780618G>A	ENST00000528054.1	+	1	2458	c.841G>A	c.(841-843)Gca>Aca	p.A281T	CIDEB_ENST00000555817.1_5'UTR|LTB4R2_ENST00000543919.1_Missense_Mutation_p.A250T|LTB4R2_ENST00000533293.1_Missense_Mutation_p.A250T|CIDEB_ENST00000258807.5_5'UTR			Q9NPC1	LT4R2_HUMAN	leukotriene B4 receptor 2	281					chemotaxis|negative regulation of adenylate cyclase activity	integral to plasma membrane				endometrium(1)|lung(1)|ovary(1)	3				GBM - Glioblastoma multiforme(265;0.018)		GCAGGCGGTCGCAGCGCTGGC	0.711													A	24780618	G	A	24780618	3	1	364	1	0	0	0	0	1	0	0	0	9142	1087	38	1	750	1	LTB4R2	14	24780618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43265	24780618	82568922	10449	33951											
LTB4R	1241	broad.mit.edu	37	chr14	24785242	24785242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtgtcccagaagctaCgcaccaaggcgatggcccgg	8	7	12	14	3	0	1	0	0	0	1	1	2	1	1	4	3	2	2	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24785242C>T	ENST00000396789.4	+	2	2110	c.385C>T	c.(385-387)Cgc>Tgc	p.R129C	LTB4R_ENST00000396782.2_Missense_Mutation_p.R129C|LTB4R_ENST00000345363.3_Missense_Mutation_p.R129C	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	129					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CCAGAAGCTACGCACCAAGGC	0.637													T	24785242	C	T	24785242	3	4	364	1	0	0	0	0	1	0	0	0	9141	536	19	1	387	1	LTB4R	14	24785242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4624	24785242	82564298	10450	33952											
ADCY4	196883	broad.mit.edu	37	chr14	24798658	24798658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctagctcccgaaggtagggGtcccgatgctccatgcctgc	6	8	12	15	2	0	0	0	0	0	0	3	2	3	0	5	3	4	3	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798658G>A	ENST00000310677.4	-	10	1412	c.1299C>T	c.(1297-1299)gaC>gaT	p.D433D	ADCY4_ENST00000396747.3_Silent_p.D126D|ADCY4_ENST00000554068.2_Silent_p.D433D|ADCY4_ENST00000418030.2_Silent_p.D433D	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	433					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GAAGGTAGGGGTCCCGATGCT	0.632													A	24798658	G	A	24798658	2	1	364	1	0	0	0	0	0	0	0	1	296	1252	44	2		2	ADCY4	14	24798658	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13416	24798658	82550882	10451	33953											
ADCY4	196883	broad.mit.edu	37	chr14	24798711	24798711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataagcccctgccagcagggCcagggtagcccctgtgatgt	8	7	13	13	0	0	1	0	1	0	0	0	1	0	1	6	2	4	2	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24798711C>T	ENST00000310677.4	-	10	1359	c.1246G>A	c.(1246-1248)Gcc>Acc	p.A416T	ADCY4_ENST00000396747.3_Missense_Mutation_p.A109T|ADCY4_ENST00000554068.2_Missense_Mutation_p.A416T|ADCY4_ENST00000418030.2_Missense_Mutation_p.A416T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	416					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		GCCAGCAGGGCCAGGGTAGCC	0.627													T	24798711	C	T	24798711	3	4	364	1	0	0	0	0	1	0	0	0	296	739	26	2	2055	2	ADCY4	14	24798711	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	24798711	82550829	10452	33954											
NFATC4	4776	broad.mit.edu	37	chr14	24839159	24839159	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcttcttctccgatgcCtctgacgaggcagccctgta	6	11	11	13	2	3	1	0	1	3	0	4	4	3	2	3	2	3	3	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839159C>T	ENST00000413692.2	+	3	888	c.744C>T	c.(742-744)gcC>gcT	p.A248A	NFATC4_ENST00000539237.2_Silent_p.A217A|NFATC4_ENST00000556169.1_Silent_p.A173A|NFATC4_ENST00000554661.1_Silent_p.A115A|NFATC4_ENST00000553879.1_Silent_p.A115A|NFATC4_ENST00000557451.1_Silent_p.A115A|NFATC4_ENST00000554050.1_Silent_p.A185A|NFATC4_ENST00000555590.1_Silent_p.A198A|NFATC4_ENST00000554591.1_Silent_p.A248A|NFATC4_ENST00000422617.3_Silent_p.A173A|NFATC4_ENST00000554966.1_Silent_p.A198A|NFATC4_ENST00000556279.1_Silent_p.A217A|NFATC4_ENST00000554344.1_Silent_p.A115A|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555453.1_Silent_p.A173A|NFATC4_ENST00000553469.1_Silent_p.A217A|NFATC4_ENST00000250373.4_Silent_p.A185A|NFATC4_ENST00000424781.2_Silent_p.A198A|NFATC4_ENST00000553708.1_Silent_p.A185A	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	185	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		TCTCCGATGCCTCTGACGAGG	0.672													T	24839159	C	T	24839159	2	4	364	1	0	0	0	0	0	0	0	1	10441	668	24	2		2	NFATC4	14	24839159	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40448	24839159	82510381	10453	33955											
NFATC4	4776	broad.mit.edu	37	chr14	24839193	24839193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgtatgcagcctgcgacGaggtggagtctgagctaaat	9	9	13	10	2	1	1	0	1	1	0	1	4	1	2	2	2	4	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24839193G>A	ENST00000413692.2	+	3	922	c.778G>A	c.(778-780)Gag>Aag	p.E260K	NFATC4_ENST00000539237.2_Missense_Mutation_p.E229K|NFATC4_ENST00000556169.1_Missense_Mutation_p.E185K|NFATC4_ENST00000554661.1_Missense_Mutation_p.E127K|NFATC4_ENST00000553879.1_Missense_Mutation_p.E127K|NFATC4_ENST00000557451.1_Missense_Mutation_p.E127K|NFATC4_ENST00000554050.1_Missense_Mutation_p.E197K|NFATC4_ENST00000555590.1_Missense_Mutation_p.E210K|NFATC4_ENST00000554591.1_Missense_Mutation_p.E260K|NFATC4_ENST00000422617.3_Missense_Mutation_p.E185K|NFATC4_ENST00000554966.1_Missense_Mutation_p.E210K|NFATC4_ENST00000556279.1_Missense_Mutation_p.E229K|NFATC4_ENST00000554344.1_Missense_Mutation_p.E127K|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000555453.1_Missense_Mutation_p.E185K|NFATC4_ENST00000553469.1_Missense_Mutation_p.E229K|NFATC4_ENST00000250373.4_Missense_Mutation_p.E197K|NFATC4_ENST00000424781.2_Missense_Mutation_p.E210K|NFATC4_ENST00000553708.1_Missense_Mutation_p.E197K	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	197	2 approximate SP repeats.|Pro-rich.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGCCTGCGACGAGGTGGAGTC	0.682													A	24839193	G	A	24839193	3	1	364	1	0	0	0	0	1	0	0	0	10441	1059	37	1	788	1	NFATC4	14	24839193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	24839193	82510347	10454	33956											
NFATC4	4776	broad.mit.edu	37	chr14	24842950	24842950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaattcagacattgagcttCggaagggtgagacggacatc	12	8	14	7	2	1	3	1	2	0	2	3	7	1	6	0	4	1	1	0	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842950C>T	ENST00000413692.2	+	6	1942	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	NFATC4_ENST00000539237.2_Missense_Mutation_p.R569W|NFATC4_ENST00000554473.1_Missense_Mutation_p.R72W|NFATC4_ENST00000556169.1_Missense_Mutation_p.R525W|NFATC4_ENST00000554661.1_Missense_Mutation_p.R467W|NFATC4_ENST00000553879.1_Missense_Mutation_p.R467W|NFATC4_ENST00000557451.1_Missense_Mutation_p.R467W|NFATC4_ENST00000554050.1_Missense_Mutation_p.R537W|NFATC4_ENST00000555590.1_Missense_Mutation_p.R550W|NFATC4_ENST00000554591.1_Missense_Mutation_p.R600W|NFATC4_ENST00000422617.3_Missense_Mutation_p.R525W|NFATC4_ENST00000554966.1_Missense_Mutation_p.R550W|NFATC4_ENST00000556279.1_Missense_Mutation_p.R569W|NFATC4_ENST00000554344.1_Missense_Mutation_p.R467W|NFATC4_ENST00000556759.1_Missense_Mutation_p.R72W|NFATC4_ENST00000555453.1_Missense_Mutation_p.R525W|NFATC4_ENST00000553469.1_Missense_Mutation_p.R569W|NFATC4_ENST00000250373.4_Missense_Mutation_p.R537W|NFATC4_ENST00000424781.2_Missense_Mutation_p.R550W|NFATC4_ENST00000553708.1_Missense_Mutation_p.R537W|NFATC4_ENST00000555167.1_Missense_Mutation_p.R72W	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	537	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R537R(1)|p.R600R(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CATTGAGCTTCGGAAGGGTGA	0.582													T	24842950	C	T	24842950	3	4	364	1	0	0	0	0	1	0	0	0	10441	875	31	1	1820	1	NFATC4	14	24842950	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3757	24842950	82506590	10455	33957											
NFATC4	4776	broad.mit.edu	37	chr14	24842970	24842970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaagggtgagacggacatCgggcgcaaaaacacacgtgt	13	4	15	9	5	0	1	0	1	0	1	1	4	0	3	0	4	1	1	0	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24842970C>T	ENST00000413692.2	+	6	1962	c.1818C>T	c.(1816-1818)atC>atT	p.I606I	NFATC4_ENST00000539237.2_Silent_p.I575I|NFATC4_ENST00000554473.1_Silent_p.I78I|NFATC4_ENST00000556169.1_Silent_p.I531I|NFATC4_ENST00000554661.1_Silent_p.I473I|NFATC4_ENST00000553879.1_Silent_p.I473I|NFATC4_ENST00000557451.1_Silent_p.I473I|NFATC4_ENST00000554050.1_Silent_p.I543I|NFATC4_ENST00000555590.1_Silent_p.I556I|NFATC4_ENST00000554591.1_Silent_p.I606I|NFATC4_ENST00000422617.3_Silent_p.I531I|NFATC4_ENST00000554966.1_Silent_p.I556I|NFATC4_ENST00000556279.1_Silent_p.I575I|NFATC4_ENST00000554344.1_Silent_p.I473I|NFATC4_ENST00000556759.1_Silent_p.I78I|NFATC4_ENST00000555453.1_Silent_p.I531I|NFATC4_ENST00000553469.1_Silent_p.I575I|NFATC4_ENST00000250373.4_Silent_p.I543I|NFATC4_ENST00000424781.2_Silent_p.I556I|NFATC4_ENST00000553708.1_Silent_p.I543I|NFATC4_ENST00000555167.1_Silent_p.I78I	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	543	IPT/TIG.				cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		AGACGGACATCGGGCGCAAAA	0.597													T	24842970	C	T	24842970	2	4	364	1	0	0	0	0	0	0	0	1	10441	874	31	1		1	NFATC4	14	24842970	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	24842970	82506570	10456	33958											
NYNRIN	57523	broad.mit.edu	37	chr14	24884336	24884336	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaagcagaagcctgaCtggcagtgggaccaggagca	11	5	13	12	0	1	2	1	1	0	1	2	4	2	4	3	3	3	3	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24884336C>T	ENST00000382554.3	+	9	3699	c.3381C>T	c.(3379-3381)gaC>gaT	p.D1127D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1127					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAAGCCTGACTGGCAGTGGG	0.627													T	24884336	C	T	24884336	2	4	364	1	0	0	0	0	0	0	0	1	10872	564	20	2		2	NYNRIN	14	24884336	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41366	24884336	82465204	10457	33959											
CBLN3	643866	broad.mit.edu	37	chr14	24897069	24897069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagattcccccgacgcaggcGcagagacactcggtccccag	9	5	11	16	4	0	2	0	0	0	2	3	4	2	2	4	2	0	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897069G>A	ENST00000267406.6	-	3	1014	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	CBLN3_ENST00000555436.1_Missense_Mutation_p.R131C	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	182	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		CGACGCAGGCGCAGAGACACT	0.567													A	24897069	G	A	24897069	3	1	364	1	0	0	0	0	1	0	0	0	2732	1087	38	1	77	1	CBLN3	14	24897069	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12733	24897069	82452471	10458	33960											
CBLN3	643866	broad.mit.edu	37	chr14	24897112	24897112	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaagggcagtagcacagaGctggtggctgcctcccgggt	7	7	15	12	1	0	1	0	0	0	1	2	1	2	1	3	4	3	5	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24897112G>A	ENST00000267406.6	-	3	971	c.501C>T	c.(499-501)agC>agT	p.S167S	CBLN3_ENST00000555436.1_Silent_p.S116S	NM_001039771.2	NP_001034860.1	Q6UW01	CBLN3_HUMAN	cerebellin 3 precursor	167	C1q.|Necessary for interaction with CBLN3, and homotrimerization (By similarity).					cell junction|extracellular region|synapse				central_nervous_system(1)|lung(3)	4				GBM - Glioblastoma multiforme(265;0.00159)		GTAGCACAGAGCTGGTGGCTG	0.602													A	24897112	G	A	24897112	2	1	364	1	0	0	0	0	0	0	0	1	2732	962	34	2		2	CBLN3	14	24897112	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43	24897112	82452428	10459	33961											
KHNYN	23351	broad.mit.edu	37	chr14	24901675	24901675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcctcaatggaaacgagGcgcccgagggggcaacttgg	9	4	18	10	3	1	0	1	0	0	0	1	3	1	1	2	7	2	1	2	7	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24901675G>A	ENST00000251343.5	+	3	1347	c.1208G>A	c.(1207-1209)gGc>gAc	p.G403D	KHNYN_ENST00000556842.1_Missense_Mutation_p.G403D|KHNYN_ENST00000553935.1_Missense_Mutation_p.G403D			O15037	KHNYN_HUMAN	KH and NYN domain containing	403										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						TGGAAACGAGGCGCCCGAGGG	0.657											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24901675	G	A	24901675	3	1	364	1	0	0	0	0	1	0	0	0	8208	1203	42	2	1214	2	KHNYN	14	24901675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4563	24901675	82447865	10460	33962											
CMA1	1215	broad.mit.edu	37	chr14	24976590	24976590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgagcagccgtcagcaCaaagttccgtcttataagga	14	8	9	10	2	2	1	1	1	1	0	3	2	3	2	2	1	3	3	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:24976590C>T	ENST00000250378.3	-	2	210	c.181G>A	c.(181-183)Gtg>Atg	p.V61M	RP11-80A15.1_ENST00000555109.1_Intron|CMA1_ENST00000206446.4_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	61	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		GCCGTCAGCACAAAGTTCCGT	0.478													T	24976590	C	T	24976590	3	4	364	1	0	0	0	0	1	0	0	0	3605	478	17	2	578	2	CMA1	14	24976590	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74915	24976590	82372950	10461	33963											
SCFD1	23256	broad.mit.edu	37	chr14	31139478	31139478	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaggatttccatttaaacaGggttaatttggaagaatctt	13	15	8	5	0	1	1	0	0	1	1	2	3	2	3	1	3	1	1	1	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31139478G>T	ENST00000458591.2	+	11	1099	c.872G>T	c.(871-873)aGg>aTg	p.R291M	SCFD1_ENST00000421551.3_Missense_Mutation_p.R232M|SCFD1_ENST00000544052.2_Missense_Mutation_p.R224M|SCFD1_ENST00000396629.2_Missense_Mutation_p.R199M|SCFD1_ENST00000541123.1_Missense_Mutation_p.R106M	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	291					post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CATTTAAACAGGGTTAATTTG	0.333													T	31139478	G	T	31139478	3	4	364	1	0	0	0	0	1	0	0	0	13981	1000	35	4	914	4	SCFD1	14	31139478	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6162888	31139478	76210062	10462	33964											
COCH	1690	broad.mit.edu	37	chr14	31354669	31354669	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaagaaaagggatccccaAagtggtggtggtatttattg	13	11	13	4	0	0	1	0	0	0	1	1	2	1	2	2	4	0	2	2	4	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31354669A>G	ENST00000460581.2	+	8	1013	c.467A>G	c.(466-468)aAa>aGa	p.K156R	RP11-829H16.3_ENST00000555108.1_RNA|COCH_ENST00000216361.4_Missense_Mutation_p.K268R|COCH_ENST00000396618.3_Missense_Mutation_p.K268R|COCH_ENST00000475087.1_Missense_Mutation_p.K268R|COCH_ENST00000382493.4_Missense_Mutation_p.K119R			O43405	COCH_HUMAN	cochlin	268					sensory perception of sound	proteinaceous extracellular matrix				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|pancreas(1)|skin(3)	19	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.00645)		GGGATCCCCAAAGTGGTGGTG	0.418													G	31354669	A	G	31354669	3	3	364	1	0	0	0	0	1	0	0	0	3687	14	1	3	837	3	COCH	14	31354669	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	215191	31354669	75994871	10463	33965											
HECTD1	25831	broad.mit.edu	37	chr14	31597844	31597844	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcatcacattcctccccAaagtattagtgttgttatca	10	15	5	11	0	3	0	3	0	0	0	5	0	5	0	3	0	1	4	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31597844A>G	ENST00000399332.1	-	25	5221	c.4733T>C	c.(4732-4734)tTg>tCg	p.L1578S	HECTD1_ENST00000553700.1_Missense_Mutation_p.L1578S	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1578	Ser-rich.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		ATTCCTCCCCAAAGTATTAGT	0.443													G	31597844	A	G	31597844	3	3	364	1	0	0	0	0	1	0	0	0	7094	131	5	3	3175	3	HECTD1	14	31597844	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	243175	31597844	75751696	10464	33966											
HECTD1	25831	broad.mit.edu	37	chr14	31641315	31641315	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacctacatcatccataaaAtttacttcaaaggctgaaat	16	12	4	9	0	2	2	2	2	0	0	3	2	3	2	2	1	2	1	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31641315A>G	ENST00000399332.1	-	7	1658	c.1170T>C	c.(1168-1170)aaT>aaC	p.N390N	HECTD1_ENST00000553700.1_Silent_p.N390N	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	390					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CATCCATAAAATTTACTTCAA	0.299													G	31641315	A	G	31641315	2	3	364	1	0	0	0	0	0	0	0	1	7094	98	4	3		3	HECTD1	14	31641315	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43471	31641315	75708225	10465	33967											
HEATR5A	25938	broad.mit.edu	37	chr14	31858128	31858128	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactggctcgaaggaatcCtgaactcccacgtagaaacc	12	7	8	14	2	0	2	0	1	0	1	4	4	3	3	4	2	2	2	4	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:31858128C>A	ENST00000543095.2	-	7	1040	c.856G>T	c.(856-858)Gga>Tga	p.G286*	HEATR5A_ENST00000439348.1_Nonsense_Mutation_p.G280*|HEATR5A_ENST00000389961.3_Nonsense_Mutation_p.G280*|HEATR5A_ENST00000404677.3_Nonsense_Mutation_p.G286*|HEATR5A_ENST00000439727.1_De_novo_Start_OutOfFrame	NM_015473.3	NP_056288.2	Q86XA9	HTR5A_HUMAN	HEAT repeat containing 5A	280							binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)	26	Hepatocellular(127;0.0877)|Breast(36;0.137)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.0797)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.0059)		CGAAGGAATCCTGAACTCCCA	0.448													A	31858128	C	A	31858128	4	1	364	1	0	0	0	0	0	1	0	0	7086	696	24	4		4	HEATR5A	14	31858128	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216813	31858128	75491412	10466	33968											
ARHGAP5	394	broad.mit.edu	37	chr14	32559922	32559922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccccatcctataccatcaGtatagttggactctctggga	9	12	7	13	0	2	0	1	0	1	0	5	2	4	2	4	2	1	2	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32559922G>A	ENST00000345122.3	+	2	362	c.47G>A	c.(46-48)aGt>aAt	p.S16N	ARHGAP5_ENST00000539826.2_Missense_Mutation_p.S16N|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.S16N|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.S16N	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	16					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		TATACCATCAGTATAGTTGGA	0.393													A	32559922	G	A	32559922	3	1	364	1	0	0	0	0	1	0	0	0	889	1029	36	2	49	2	ARHGAP5	14	32559922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	701794	32559922	74789618	10467	33969											
ARHGAP5	394	broad.mit.edu	37	chr14	32563100	32563100	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatccaagaaagcagacttcCcgggtgcctttggcacatcc	11	8	9	13	1	0	2	0	0	0	2	3	2	3	2	4	2	2	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:32563100C>T	ENST00000345122.3	+	2	3540	c.3225C>T	c.(3223-3225)tcC>tcT	p.S1075S	ARHGAP5_ENST00000539826.2_Silent_p.S1075S|ARHGAP5_ENST00000556611.1_Silent_p.S1075S|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000432921.1_Silent_p.S1075S	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1075					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		AGCAGACTTCCCGGGTGCCTT	0.383													T	32563100	C	T	32563100	2	4	364	1	0	0	0	0	0	0	0	1	889	610	22	2		2	ARHGAP5	14	32563100	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3178	32563100	74786440	10468	33970											
AKAP6	9472	broad.mit.edu	37	chr14	33291101	33291101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacatgagccagaattcagGcagtgagagtggaattgtca	14	8	13	6	0	2	4	2	2	0	3	2	6	2	5	1	2	1	1	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33291101G>A	ENST00000280979.4	+	13	4252	c.4082G>A	c.(4081-4083)gGc>gAc	p.G1361D	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1361					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGAATTCAGGCAGTGAGAGT	0.458													A	33291101	G	A	33291101	3	1	364	1	0	0	0	0	1	0	0	0	455	1203	42	2	4128	2	AKAP6	14	33291101	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	728001	33291101	74058439	10469	33971											
AKAP6	9472	broad.mit.edu	37	chr14	33292223	33292223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaagcgatgtcaatgtcaGcatgattgttaatgtctctt	11	15	9	6	1	3	2	2	2	1	0	4	3	3	2	0	0	2	2	0	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292223G>A	ENST00000280979.4	+	13	5374	c.5204G>A	c.(5203-5205)aGc>aAc	p.S1735N	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1735					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GTCAATGTCAGCATGATTGTT	0.473													A	33292223	G	A	33292223	3	1	364	1	0	0	0	0	1	0	0	0	455	971	34	2	5250	2	AKAP6	14	33292223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1122	33292223	74057317	10470	33972											
AKAP6	9472	broad.mit.edu	37	chr14	33292407	33292407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgatgtcagggctagaCtacataaagaatgaattaca	16	10	8	7	0	1	4	1	2	0	2	1	4	1	4	1	1	2	1	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33292407C>A	ENST00000280979.4	+	13	5558	c.5388C>A	c.(5386-5388)gaC>gaA	p.D1796E	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1796					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAGGGCTAGACTACATAAAGA	0.403													A	33292407	C	A	33292407	3	1	364	1	0	0	0	0	1	0	0	0	455	564	20	4	5434	4	AKAP6	14	33292407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184	33292407	74057133	10471	33973											
AKAP6	9472	broad.mit.edu	37	chr14	33293146	33293146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcctgttgcaactgtgagCcagatgttttccatcaaaaa	11	14	7	9	0	1	2	1	1	0	1	3	2	3	2	3	0	3	3	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293146C>T	ENST00000280979.4	+	13	6297	c.6127C>T	c.(6127-6129)Cca>Tca	p.P2043S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2043					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CAACTGTGAGCCAGATGTTTT	0.408													T	33293146	C	T	33293146	3	4	364	1	0	0	0	0	1	0	0	0	455	739	26	2	6173	2	AKAP6	14	33293146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	739	33293146	74056394	10472	33974											
AKAP6	9472	broad.mit.edu	37	chr14	33293206	33293206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacacaactttgttaaggaaAtcattgacatggcttcgaca	14	12	7	8	1	1	1	1	1	0	0	2	3	1	2	0	2	2	2	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33293206A>G	ENST00000280979.4	+	13	6357	c.6187A>G	c.(6187-6189)Atc>Gtc	p.I2063V	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	2063	PKA-RII subunit binding domain.				protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TGTTAAGGAAATCATTGACAT	0.398													G	33293206	A	G	33293206	3	3	364	1	0	0	0	0	1	0	0	0	455	101	4	3	6233	3	AKAP6	14	33293206	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60	33293206	74056334	10473	33975											
NPAS3	64067	broad.mit.edu	37	chr14	33684459	33684459	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaagaaaactttgagtTctatgaattggccaagttgt	14	12	11	4	0	1	3	0	2	1	1	1	4	1	4	1	2	1	2	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:33684459T>C	ENST00000346562.2	+	2	196	c.122T>C	c.(121-123)tTc>tCc	p.F41S	NPAS3_ENST00000341321.4_Missense_Mutation_p.F71S|NPAS3_ENST00000356141.4_Missense_Mutation_p.F71S|NPAS3_ENST00000551008.1_5'UTR|NPAS3_ENST00000551492.1_Missense_Mutation_p.F78S|NPAS3_ENST00000547068.1_5'UTR|NPAS3_ENST00000548645.1_Missense_Mutation_p.F41S|NPAS3_ENST00000357798.5_Missense_Mutation_p.F41S	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AACTTTGAGTTCTATGAATTG	0.458													C	33684459	T	C	33684459	3	2	364	1	0	0	0	0	1	0	0	0	10640	1783	62	3	222	3	NPAS3	14	33684459	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	391253	33684459	73665081	10474	33976											
EGLN3	112399	broad.mit.edu	37	chr14	34419872	34419872	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggaagttgtccaggtaGcagaagcccacctcgtgcag	10	6	12	13	1	0	1	0	0	0	1	2	2	1	2	4	2	3	4	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:34419872G>A	ENST00000547327.2	-	1	415	c.87C>T	c.(85-87)tgC>tgT	p.C29C	EGLN3_ENST00000250457.3_Silent_p.C29C|EGLN3_ENST00000553215.1_Intron			Q9H6Z9	EGLN3_HUMAN	egl-9 family hypoxia-inducible factor 3	29					apoptosis	cytoplasm|nucleus	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|upper_aerodigestive_tract(1)	15	Breast(36;0.0303)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.000246)|Lung(238;0.000959)|Epithelial(34;0.155)	GBM - Glioblastoma multiforme(112;0.0118)	Vitamin C(DB00126)	TGTCCAGGTAGCAGAAGCCCA	0.652													A	34419872	G	A	34419872	2	1	364	1	0	0	0	0	0	0	0	1	5009	963	34	2		2	EGLN3	14	34419872	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	735413	34419872	72929668	10475	33977											
SNX6	58533	broad.mit.edu	37	chr14	35062309	35062309	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccttaactcggttatgAtactccaaaagaaatgttcg	13	12	7	9	2	0	2	0	1	0	1	4	2	2	2	2	1	2	3	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35062309A>C	ENST00000396526.3	-	7	808	c.312T>G	c.(310-312)taT>taG	p.Y104*	SNX6_ENST00000396534.3_Nonsense_Mutation_p.Y104*|SNX6_ENST00000362031.4_Nonsense_Mutation_p.Y232*|SNX6_ENST00000355110.5_Nonsense_Mutation_p.Y108*			Q9UNH7	SNX6_HUMAN	sorting nexin 6	220	PX.|Phosphatidylinositol bisphosphate binding (By similarity).				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CTCGGTTATGATACTCCAAAA	0.303													C	35062309	A	C	35062309	4	2	364	1	0	0	0	0	0	1	0	0	15000	340	12	5	588	5	SNX6	14	35062309	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	642437	35062309	72287231	10476	33978											
SNX6	58533	broad.mit.edu	37	chr14	35078876	35078876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgaattttactttatcccGctcactaagagcatcagaaa	14	12	6	9	1	2	3	2	1	0	2	3	3	3	3	1	0	2	2	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35078876G>A	ENST00000362031.4	-	3	193	c.163C>T	c.(163-165)Cgg>Tgg	p.R55W	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000396526.3_5'UTR|SNX6_ENST00000355110.5_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	43	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		ACTTTATCCCGCTCACTAAGA	0.333													A	35078876	G	A	35078876	3	1	364	1	0	0	0	0	1	0	0	0	15000	1086	38	1	1141	1	SNX6	14	35078876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16567	35078876	72270664	10477	33979											
BAZ1A	11177	broad.mit.edu	37	chr14	35234240	35234240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaataccttgagctttggtCgaacacagtaggtatgatga	14	11	10	6	1	0	3	0	3	0	0	1	4	0	3	1	2	3	3	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35234240C>T	ENST00000360310.1	-	22	4103	c.3536G>A	c.(3535-3537)cGa>cAa	p.R1179Q	BAZ1A_ENST00000358716.4_Missense_Mutation_p.R1147Q|BAZ1A_ENST00000382422.2_Missense_Mutation_p.R1179Q	NM_013448.2	NP_038476.2	Q9NRL2	BAZ1A_HUMAN	bromodomain adjacent to zinc finger domain, 1A	1179					chromatin remodeling|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ACF complex	zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(2)|large_intestine(7)|lung(19)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	Breast(36;0.0388)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;7.23e-05)|Lung(238;0.00019)|Epithelial(34;0.0793)|all cancers(34;0.175)	GBM - Glioblastoma multiforme(112;0.0659)		GAGCTTTGGTCGAACACAGTA	0.358													T	35234240	C	T	35234240	3	4	364	1	0	0	0	0	1	0	0	0	1334	884	31	1	1158	1	BAZ1A	14	35234240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155364	35234240	72115300	10478	33980											
PPP2R3C	55012	broad.mit.edu	37	chr14	35576557	35576557	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcatataaactgagtcCtattcttgtttgatgaagcc	12	14	7	8	0	2	3	1	3	1	0	3	4	3	3	2	0	2	1	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:35576557C>A	ENST00000261475.5	-	6	879	c.526G>T	c.(526-528)Gga>Tga	p.G176*		NM_017917.2	NP_060387.2	Q969Q6	P2R3C_HUMAN	protein phosphatase 2, regulatory subunit B'', gamma	176						centrosome|nucleus	calcium ion binding			central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)	15	Breast(36;0.0545)|Hepatocellular(127;0.158)|Prostate(35;0.184)		Lung(238;8.62e-06)|LUAD - Lung adenocarcinoma(48;1.42e-05)|Epithelial(34;0.0177)|all cancers(34;0.0491)	GBM - Glioblastoma multiforme(112;0.0803)		AAACTGAGTCCTATTCTTGTT	0.333													A	35576557	C	A	35576557	4	1	364	1	0	0	0	0	0	1	0	0	12472	690	24	4	867	4	PPP2R3C	14	35576557	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	342317	35576557	71772983	10479	33981											
RALGAPA1	253959	broad.mit.edu	37	chr14	36096635	36096635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatcccaagttggtacaGtttctctaaatcttttaaac	11	17	5	8	0	2	0	0	0	2	0	4	0	3	0	1	1	2	4	1	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36096635G>T	ENST00000258840.6	-	34	5531	c.5141C>A	c.(5140-5142)aCt>aAt	p.T1714N	RALGAPA1_ENST00000382366.3_Missense_Mutation_p.T1680N|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.T1667N|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.T1667N	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1667	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGTTGGTACAGTTTCTCTAAA	0.393													T	36096635	G	T	36096635	3	4	364	1	0	0	0	0	1	0	0	0	13101	1029	36	4	1295	4	RALGAPA1	14	36096635	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	520078	36096635	71252905	10480	33982											
RALGAPA1	253959	broad.mit.edu	37	chr14	36217850	36217850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttagaagaaaaaactctgcGaactatttcaatgtctgtga	15	13	7	6	1	3	3	1	1	2	2	3	4	3	3	0	0	3	0	0	0	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217850G>A	ENST00000258840.6	-	10	1582	c.1192C>T	c.(1192-1194)Cgc>Tgc	p.R398C	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R398C|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R398C|RALGAPA1_ENST00000389698.3_Missense_Mutation_p.R398C	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	398					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity	p.R398C(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AAAACTCTGCGAACTATTTCA	0.368													A	36217850	G	A	36217850	3	1	364	1	0	0	0	0	1	0	0	0	13101	1058	37	1	5195	1	RALGAPA1	14	36217850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	121215	36217850	71131690	10481	33983											
RALGAPA1	253959	broad.mit.edu	37	chr14	36217958	36217958	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgagactgttcgggttCtgtagttctgtctgttttat	6	18	12	5	1	3	1	0	1	3	1	4	3	3	2	0	2	0	5	0	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36217958C>A	ENST00000258840.6	-	10	1474	c.1084G>T	c.(1084-1086)Gaa>Taa	p.E362*	RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E362*|RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E362*	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	362					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TGTTCGGGTTCTGTAGTTCTG	0.373													A	36217958	C	A	36217958	4	1	364	1	0	0	0	0	0	1	0	0	13101	922	32	4	5303	4	RALGAPA1	14	36217958	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108	36217958	71131582	10482	33984											
RALGAPA1	253959	broad.mit.edu	37	chr14	36219826	36219826	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctcctttgtacaataGattgcttcattggtttcagc	10	15	8	8	0	2	1	2	0	0	1	3	1	3	1	1	2	3	4	1	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36219826G>T	ENST00000258840.6	-	9	1263	c.873C>A	c.(871-873)atC>atA	p.I291I	RALGAPA1_ENST00000307138.6_Silent_p.I291I|RALGAPA1_ENST00000554704.1_5'UTR|RALGAPA1_ENST00000382366.3_Silent_p.I291I|RALGAPA1_ENST00000389698.3_Silent_p.I291I	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	291					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTGTACAATAGATTGCTTCAT	0.413													T	36219826	G	T	36219826	2	4	364	1	0	0	0	0	0	0	0	1	13101	932	33	4		4	RALGAPA1	14	36219826	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1868	36219826	71129714	10483	33985											
BRMS1L	84312	broad.mit.edu	37	chr14	36295758	36295758	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggataagaaggagacCaaccatcacgatgagatgga	16	4	14	7	2	1	3	1	1	0	3	1	9	1	5	2	4	1	0	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36295758C>A	ENST00000216807.7	+	1	235	c.36C>A	c.(34-36)acC>acA	p.T12T	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	12					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		AGAAGGAGACCAACCATCACG	0.607													A	36295758	C	A	36295758	2	1	364	1	0	0	0	0	0	0	0	1	1526	581	21	4		4	BRMS1L	14	36295758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75932	36295758	71053782	10484	33986											
BRMS1L	84312	broad.mit.edu	37	chr14	36339592	36339592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattacaacaattaaccatgAtgaagtttggtttaagaggc	16	12	8	5	0	0	3	0	2	0	1	0	3	0	3	1	2	3	2	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36339592A>G	ENST00000216807.7	+	10	1080	c.881A>G	c.(880-882)gAt>gGt	p.D294G	BRMS1L_ENST00000543183.1_Missense_Mutation_p.D246G	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	294					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		ATTAACCATGATGAAGTTTGG	0.279													G	36339592	A	G	36339592	3	3	364	1	0	0	0	0	1	0	0	0	1526	333	12	3	919	3	BRMS1L	14	36339592	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43834	36339592	71009948	10485	33987											
NKX2-1	7080	broad.mit.edu	37	chr14	36988464	36988464	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgccagcggagccccgagGccgccgccctccatgcccac	5	2	12	22	5	0	0	0	0	0	0	1	2	1	1	9	2	3	0	9	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:36988464G>A	ENST00000518149.1	-	2	704	c.99C>T	c.(97-99)ggC>ggT	p.G33G	NKX2-1_ENST00000354822.5_Silent_p.G63G|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Silent_p.G33G|NKX2-1_ENST00000498187.2_Silent_p.G33G			P43699	NKX21_HUMAN	NK2 homeobox 1	33					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)		GAGCCCCGAGGCCGCCGCCCT	0.667			A		NSCLC								A	36988464	G	A	36988464	2	1	364	1	0	0	0	0	0	0	0	1	10525	1190	42	2		2	NKX2-1	14	36988464	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648872	36988464	70361076	10486	33988											
SEC23A	10484	broad.mit.edu	37	chr14	39524384	39524384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagccacctaagcacaTctggaccttcttctgtttct	7	14	6	14	0	4	0	0	0	4	0	5	1	5	1	4	1	2	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39524384T>C	ENST00000537403.1	-	10	2218	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G	SEC23A_ENST00000536508.1_Missense_Mutation_p.D415G|SEC23A_ENST00000545328.2_Missense_Mutation_p.D512G|SEC23A_ENST00000307712.6_Missense_Mutation_p.D541G			Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	541					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CCTAAGCACATCTGGACCTTC	0.418													C	39524384	T	C	39524384	3	2	364	1	0	0	0	0	1	0	0	0	14084	1435	50	3	703	3	SEC23A	14	39524384	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2535920	39524384	67825156	10487	33989											
SEC23A	10484	broad.mit.edu	37	chr14	39565205	39565205	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagtggtgtaaacagggCtgccacaggaacaaccattc	12	9	10	10	0	1	0	1	0	0	0	2	1	1	1	2	3	4	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39565205C>A	ENST00000307712.6	-	2	635	c.118G>T	c.(118-120)Gcc>Tcc	p.A40S	SEC23A_ENST00000548032.2_Missense_Mutation_p.A40S|SEC23A_ENST00000536508.1_Intron|SEC23A_ENST00000545328.2_Missense_Mutation_p.A40S|SEC23A_ENST00000557280.1_Missense_Mutation_p.A40S|SEC23A_ENST00000553970.1_Missense_Mutation_p.A40S	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	40					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		GTAAACAGGGCTGCCACAGGA	0.433													A	39565205	C	A	39565205	3	1	364	1	0	0	0	0	1	0	0	0	14084	797	28	4	2255	4	SEC23A	14	39565205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40821	39565205	67784335	10488	33990											
TRAPPC6B	122553	broad.mit.edu	37	chr14	39621037	39621037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattaagccacacgtaaatgCtaaatactaaaaggaaaaaa	22	7	6	6	1	0	0	0	0	0	0	0	2	0	1	1	1	3	2	1	1	11	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39621037C>T	ENST00000330149.5	-	5	584	c.358G>A	c.(358-360)Gca>Aca	p.A120T	TRAPPC6B_ENST00000557764.1_5'UTR|TRAPPC6B_ENST00000347691.5_Missense_Mutation_p.A92T	NM_001079537.1	NP_001073005.1	Q86SZ2	TPC6B_HUMAN	trafficking protein particle complex 6B	120					vesicle-mediated transport	endoplasmic reticulum|Golgi apparatus	guanylate cyclase activity|heme binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0128)		CACGTAAATGCTAAATACTAA	0.294													T	39621037	C	T	39621037	3	4	364	1	0	0	0	0	1	0	0	0	16565	797	28	2	126	2	TRAPPC6B	14	39621037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55832	39621037	67728503	10489	33991											
PNN	5411	broad.mit.edu	37	chr14	39646666	39646666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgccaggaaagcgaccCggaggatgatgatgttaaaa	15	6	12	8	3	1	2	1	2	0	0	1	6	1	5	2	3	1	1	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39646666C>T	ENST00000216832.4	+	4	372	c.305C>T	c.(304-306)cCg>cTg	p.P102L	PNN_ENST00000556530.1_Missense_Mutation_p.P102L|PNN_ENST00000553331.1_Missense_Mutation_p.P102L	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	102	Necessary for interaction with RNPS1.|Necessary for mediating alternative 5' splicing.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		GAAAGCGACCCGGAGGATGAT	0.413													T	39646666	C	T	39646666	3	4	364	1	0	0	0	0	1	0	0	0	12237	652	23	1	319	1	PNN	14	39646666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25629	39646666	67702874	10490	33992											
PNN	5411	broad.mit.edu	37	chr14	39648331	39648331	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaattgaacaaaaacttgaaGttcaggcagaagaagagaga	21	6	10	4	0	1	6	1	2	0	4	1	7	1	6	0	1	2	2	0	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39648331G>T	ENST00000216832.4	+	7	602	c.535G>T	c.(535-537)Gtt>Ttt	p.V179F	PNN_ENST00000557680.1_3'UTR|PNN_ENST00000553331.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	179	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAAACTTGAAGTTCAGGCAGA	0.388													T	39648331	G	T	39648331	3	4	364	1	0	0	0	0	1	0	0	0	12237	1029	36	4	561	4	PNN	14	39648331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1665	39648331	67701209	10491	33993											
PNN	5411	broad.mit.edu	37	chr14	39650606	39650606	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaggagcagaagtagaggtCgagctagaaataaaacaagc	18	5	12	6	1	0	3	0	0	0	3	1	5	0	4	0	2	4	3	0	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39650606C>T	ENST00000216832.4	+	9	1760	c.1693C>T	c.(1693-1695)Cga>Tga	p.R565*	PNN_ENST00000557680.1_Intron	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	565	Ser-rich.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		AAGTAGAGGTCGAGCTAGAAA	0.453													T	39650606	C	T	39650606	4	4	364	1	0	0	0	0	0	1	0	0	12237	876	31	1	1727	1	PNN	14	39650606	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2275	39650606	67698934	10492	33994											
CTAGE5	4253	broad.mit.edu	37	chr14	39771384	39771384	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgggctgctatgcttggaGaagacataacggatgatgat	12	11	13	5	1	0	4	0	2	0	2	0	6	0	5	0	3	3	3	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39771384G>T	ENST00000553728.1	+	14	2665	c.2452G>T	c.(2452-2454)Gaa>Taa	p.E818*	CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000348007.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.E288*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.E283*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.E254*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.E254*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.E271*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.E208*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.E203*																							TATGCTTGGAGAAGACATAAC	0.383													T	39771384	G	T	39771384	4	4	364	1	0	0	0	0	0	1	0	0	4027	943	33	4	916	4	CTAGE5	14	39771384	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120778	39771384	67578156	10493	33995											
CTAGE5	4253	broad.mit.edu	37	chr14	39790251	39790251	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctttgcttccagggggaGgaggaagaggtatattgttt	9	12	14	6	0	0	1	0	0	0	1	1	4	1	4	2	5	1	3	2	5	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:39790251G>T	ENST00000553728.1	+	23	3481	c.3268G>T	c.(3268-3270)Gga>Tga	p.G1090*	CTAGE5_ENST00000341502.5_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000348007.3_Intron|CTAGE5_ENST00000553352.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000396158.2_Nonsense_Mutation_p.G560*|CTAGE5_ENST00000280083.3_Nonsense_Mutation_p.G555*|CTAGE5_ENST00000396165.4_Nonsense_Mutation_p.G526*|RP11-407N17.3_ENST00000603904.1_Nonsense_Mutation_p.G526*|CTAGE5_ENST00000341749.3_Nonsense_Mutation_p.G543*|CTAGE5_ENST00000556148.1_Nonsense_Mutation_p.G480*|CTAGE5_ENST00000557038.1_Nonsense_Mutation_p.G475*																							TCCAGGGGGAGGAGGAAGAGG	0.383													T	39790251	G	T	39790251	4	4	364	1	0	0	0	0	0	1	0	0	4027	1001	35	4	1768	4	CTAGE5	14	39790251	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18867	39790251	67559289	10494	33996											
LRFN5	145581	broad.mit.edu	37	chr14	42356285	42356285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcttcgcccttgaggagctgGatctgtcctataataatcta	9	14	8	10	1	3	1	0	1	3	0	5	3	4	3	2	2	1	1	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356285G>A	ENST00000554171.1	+	5	2889	c.457G>A	c.(457-459)Gat>Aat	p.D153N	LRFN5_ENST00000298119.4_Missense_Mutation_p.D153N|LRFN5_ENST00000554120.1_Missense_Mutation_p.D153N			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	153						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TGAGGAGCTGGATCTGTCCTA	0.393										HNSCC(30;0.082)			A	42356285	G	A	42356285	3	1	364	1	0	0	0	0	1	0	0	0	9011	1174	41	2	459	2	LRFN5	14	42356285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2566034	42356285	64993255	10495	33997											
LRFN5	145581	broad.mit.edu	37	chr14	42356327	42356327	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccattccttgggatgctGttgagaagatggttagcttg	10	13	12	6	0	0	2	0	1	0	2	1	4	1	3	2	2	3	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356327G>T	ENST00000554171.1	+	5	2931	c.499G>T	c.(499-501)Gtt>Ttt	p.V167F	LRFN5_ENST00000298119.4_Missense_Mutation_p.V167F|LRFN5_ENST00000554120.1_Missense_Mutation_p.V167F			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	167						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTGGGATGCTGTTGAGAAGAT	0.423										HNSCC(30;0.082)			T	42356327	G	T	42356327	3	4	364	1	0	0	0	0	1	0	0	0	9011	1377	48	4	501	4	LRFN5	14	42356327	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42	42356327	64993213	10496	33998											
LRFN5	145581	broad.mit.edu	37	chr14	42356641	42356641	+	Silent	SNP	C	C	T																															tctcctccacttttaactggCcgctacttttggtcaattcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356641C>T	ENST00000554171.1	+	5	3245	c.813C>T	c.(811-813)ggC>ggT	p.G271G	LRFN5_ENST00000298119.4_Silent_p.G271G|LRFN5_ENST00000554120.1_Silent_p.G271G			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	271	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTTTAACTGGCCGCTACTTTT	0.468										HNSCC(30;0.082)			T	42356641	C	T	42356641	2	4	364	1	0	0	0	0	0	0	0	1	9011	726	26	2		2	LRFN5	14	42356641	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314	42356641	64992899	10497	33999	95	2									
LRFN5	145581	broad.mit.edu	37	chr14	42356643	42356643	+	Missense_Mutation	SNP	G	G	A																															tcctccacttttaactggccGctacttttggtcaattcctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356643G>A	ENST00000554171.1	+	5	3247	c.815G>A	c.(814-816)cGc>cAc	p.R272H	LRFN5_ENST00000298119.4_Missense_Mutation_p.R272H|LRFN5_ENST00000554120.1_Missense_Mutation_p.R272H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	272	LRRCT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		TTAACTGGCCGCTACTTTTGG	0.468										HNSCC(30;0.082)			A	42356643	G	A	42356643	3	1	364	1	0	0	0	0	1	0	0	0	9011	1087	38	1	817	1	LRFN5	14	42356643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2	42356643	64992897	10498	34000	95	2									
LRFN5	145581	broad.mit.edu	37	chr14	42356889	42356889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactgtaaaggatacaggtgCttttacctgcattgcttcca	11	13	8	9	0	0	0	0	0	0	0	1	1	1	1	2	2	6	4	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42356889C>A	ENST00000554171.1	+	5	3493	c.1061C>A	c.(1060-1062)gCt>gAt	p.A354D	LRFN5_ENST00000298119.4_Missense_Mutation_p.A354D|LRFN5_ENST00000554120.1_Missense_Mutation_p.A354D			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	354	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GATACAGGTGCTTTTACCTGC	0.383										HNSCC(30;0.082)			A	42356889	C	A	42356889	3	1	364	1	0	0	0	0	1	0	0	0	9011	797	28	4	1063	4	LRFN5	14	42356889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	246	42356889	64992651	10499	34001											
LRFN5	145581	broad.mit.edu	37	chr14	42360514	42360514	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctggaactatgtatGacttgtgtgtcttggccata	7	15	12	7	0	1	1	0	1	1	0	1	2	1	2	1	3	2	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360514G>T	ENST00000298119.4	+	4	2636	c.1447G>T	c.(1447-1449)Gac>Tac	p.D483Y	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	483	Fibronectin type-III.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		AACTATGTATGACTTGTGTGT	0.418										HNSCC(30;0.082)			T	42360514	G	T	42360514	3	4	364	1	0	0	0	0	1	0	0	0	9011	1290	45	4	1453	4	LRFN5	14	42360514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3625	42360514	64989026	10500	34002											
LRFN5	145581	broad.mit.edu	37	chr14	42360875	42360875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaagagaatgcccagtgttGtaaagctaccagtgacaatg	14	8	11	8	1	0	2	0	1	0	1	0	4	0	2	2	0	3	3	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360875G>A	ENST00000298119.4	+	4	2997	c.1808G>A	c.(1807-1809)tGt>tAt	p.C603Y	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	603						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GCCCAGTGTTGTAAAGCTACC	0.488										HNSCC(30;0.082)			A	42360875	G	A	42360875	3	1	364	1	0	0	0	0	1	0	0	0	9011	1377	48	2	1814	2	LRFN5	14	42360875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	361	42360875	64988665	10501	34003											
LRFN5	145581	broad.mit.edu	37	chr14	42360968	42360968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgcctccttcctggaCttcaagcacttctgtgtccc	4	15	7	15	0	2	0	1	0	1	0	5	1	5	1	4	1	3	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:42360968C>T	ENST00000298119.4	+	4	3090	c.1901C>T	c.(1900-1902)aCt>aTt	p.T634I	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	634						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCTTCCTGGACTTCAAGCACT	0.448										HNSCC(30;0.082)			T	42360968	C	T	42360968	3	4	364	1	0	0	0	0	1	0	0	0	9011	565	20	2	1907	2	LRFN5	14	42360968	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93	42360968	64988572	10502	34004											
FSCB	84075	broad.mit.edu	37	chr14	44975486	44975486	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggtacagttacttcttcCctaagctcatcttctaaaag	12	13	5	11	0	4	0	1	0	3	0	5	0	5	0	1	1	3	3	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:44975486C>A	ENST00000340446.4	-	1	996	c.705G>T	c.(703-705)agG>agT	p.R235S		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	235						cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		TTACTTCTTCCCTAAGCTCAT	0.393													A	44975486	C	A	44975486	3	1	364	1	0	0	0	0	1	0	0	0	6118	622	22	4	1776	4	FSCB	14	44975486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2614518	44975486	62374054	10503	34005											
C14orf28	122525	broad.mit.edu	37	chr14	45370061	45370061	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcatgataattttacaaaAaatcttgaaaatctcatgtc	17	13	5	6	0	2	2	1	2	2	0	4	3	2	2	0	0	2	1	0	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370061A>C	ENST00000325192.3	+	2	698	c.423A>C	c.(421-423)aaA>aaC	p.K141N	C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Missense_Mutation_p.K141N|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	141										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						ATTTTACAAAAAATCTTGAAA	0.368													C	45370061	A	C	45370061	3	2	364	1	0	0	0	0	1	0	0	0	1783	11	1	5	425	5	C14orf28	14	45370061	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	394575	45370061	61979479	10504	34006											
C14orf28	122525	broad.mit.edu	37	chr14	45370113	45370113	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagttactgttccaactggCgatgcccaactcgagtgcag	10	9	11	11	2	0	1	0	0	0	1	2	3	1	1	2	1	5	3	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45370113C>T	ENST00000325192.3	+	2	750	c.475C>T	c.(475-477)Cga>Tga	p.R159*	C14orf28_ENST00000553841.1_3'UTR|C14orf28_ENST00000557112.1_Nonsense_Mutation_p.R159*|RP11-857B24.5_ENST00000555157.1_RNA	NM_001017923.1	NP_001017923.1	Q4W4Y0	CN028_HUMAN	chromosome 14 open reading frame 28	159										endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(2)	11						TTCCAACTGGCGATGCCCAAC	0.343													T	45370113	C	T	45370113	4	4	364	1	0	0	0	0	0	1	0	0	1783	760	27	1	477	1	C14orf28	14	45370113	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52	45370113	61979427	10505	34007											
FAM179B	23116	broad.mit.edu	37	chr14	45432170	45432170	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagcttagcacttttgccTcaactagttgtctcgttacg	7	17	7	10	2	2	0	1	0	1	0	3	0	2	0	1	0	5	4	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45432170T>C	ENST00000361462.2	+	1	729	c.546T>C	c.(544-546)ccT>ccC	p.P182P	FAM179B_ENST00000361577.3_Silent_p.P182P|FAM179B_ENST00000382233.2_Silent_p.P182P			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	182							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						CACTTTTGCCTCAACTAGTTG	0.537													C	45432170	T	C	45432170	2	2	364	1	0	0	0	0	0	0	0	1	5551	1538	54	3		3	FAM179B	14	45432170	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62057	45432170	61917370	10506	34008											
FAM179B	23116	broad.mit.edu	37	chr14	45535897	45535897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaaagactttcgtgatcGtattaatgggattaagcagc	13	12	10	6	2	0	2	0	1	0	1	2	3	0	3	0	1	3	3	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45535897G>A	ENST00000361462.2	+	17	4859	c.4676G>A	c.(4675-4677)cGt>cAt	p.R1559H	FAM179B_ENST00000361577.3_Missense_Mutation_p.R1506H|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1506							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						TTTCGTGATCGTATTAATGGG	0.348													A	45535897	G	A	45535897	3	1	364	1	0	0	0	0	1	0	0	0	5551	1145	40	1	4579	1	FAM179B	14	45535897	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103727	45535897	61813643	10507	34009											
PRPF39	55015	broad.mit.edu	37	chr14	45571854	45571854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttacagctatatatgatcGtattcttggtattccaacac	12	15	6	8	1	1	1	0	1	1	0	3	1	2	1	1	1	3	4	1	1	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45571854G>A	ENST00000355765.6	+	5	862	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	231					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						ATATATGATCGTATTCTTGGT	0.388													A	45571854	G	A	45571854	3	1	364	1	0	0	0	0	1	0	0	0	12655	1145	40	1	706	1	PRPF39	14	45571854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35957	45571854	61777686	10508	34010											
FANCM	57697	broad.mit.edu	37	chr14	45605352	45605352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagccctggcagctccaagGcgcctttgccagcagcagcg	8	5	13	15	2	0	1	0	0	0	1	1	1	1	1	4	2	6	4	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605352G>A	ENST00000267430.5	+	1	203	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	FANCM_ENST00000542564.2_Missense_Mutation_p.A40T|FANCM_ENST00000556036.1_Missense_Mutation_p.A40T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	40					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						CAGCTCCAAGGCGCCTTTGCC	0.602								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45605352	G	A	45605352	3	1	364	1	0	0	0	0	1	0	0	0	5720	1203	42	2	120	2	FANCM	14	45605352	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33498	45605352	61744188	10509	34011											
FANCM	57697	broad.mit.edu	37	chr14	45605531	45605531	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactaccagctgcacatttcCcgggctgctctgttttgcaa	7	12	9	13	1	1	0	0	0	1	0	2	1	2	0	2	1	5	6	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45605531C>T	ENST00000267430.5	+	1	382	c.297C>T	c.(295-297)tcC>tcT	p.S99S	FANCM_ENST00000542564.2_Silent_p.S99S|FANCM_ENST00000556036.1_Silent_p.S99S	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	99	Helicase ATP-binding.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TGCACATTTCCCGGGCTGCTC	0.567								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	45605531	C	T	45605531	2	4	364	1	0	0	0	0	0	0	0	1	5720	610	22	2		2	FANCM	14	45605531	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179	45605531	61744009	10510	34012											
FANCM	57697	broad.mit.edu	37	chr14	45633578	45633578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtagtgaaacagtttcGtgacggtggttacaacacgc	11	11	12	7	3	0	2	0	2	0	0	1	2	0	2	0	3	3	3	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45633578G>A	ENST00000267430.5	+	10	1683	c.1598G>A	c.(1597-1599)cGt>cAt	p.R533H	FANCM_ENST00000542564.2_Missense_Mutation_p.R507H|FANCM_ENST00000556036.1_Missense_Mutation_p.R533H	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	533	Helicase C-terminal.				DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAACAGTTTCGTGACGGTGGT	0.368								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45633578	G	A	45633578	3	1	364	1	0	0	0	0	1	0	0	0	5720	1145	40	1	1636	1	FANCM	14	45633578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28047	45633578	61715962	10511	34013											
FANCM	57697	broad.mit.edu	37	chr14	45645467	45645467	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgctattagtgaaacGcctctggtctctcagttctt	10	14	7	10	1	4	1	1	1	3	0	5	1	4	1	1	1	3	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:45645467G>A	ENST00000267430.5	+	14	3595	c.3510G>A	c.(3508-3510)acG>acA	p.T1170T	FANCM_ENST00000542564.2_Silent_p.T1144T	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1170					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TTAGTGAAACGCCTCTGGTCT	0.373								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	45645467	G	A	45645467	2	1	364	1	0	0	0	0	0	0	0	1	5720	1074	38	1		1	FANCM	14	45645467	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11889	45645467	61704073	10512	34014											
MDGA2	161357	broad.mit.edu	37	chr14	47343308	47343308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagtatattttgtatttcTtgttgctgtactttgctttg	6	22	9	4	0	1	0	0	0	1	0	1	1	1	1	0	1	3	6	0	1	4	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47343308T>C	ENST00000426342.1	-	13	2385	c.1639A>G	c.(1639-1641)Aga>Gga	p.R547G	MDGA2_ENST00000399222.3_5'UTR|MDGA2_ENST00000439988.3_Missense_Mutation_p.R845G|MDGA2_ENST00000399232.2_Missense_Mutation_p.R776G|MDGA2_ENST00000357362.3_Missense_Mutation_p.R547G	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	776	Ig-like 6.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTGTATTTCTTGTTGCTGTA	0.368													C	47343308	T	C	47343308	3	2	364	1	0	0	0	0	1	0	0	0	9482	1617	56	3	564	3	MDGA2	14	47343308	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1697841	47343308	60006232	10513	34015											
MDGA2	161357	broad.mit.edu	37	chr14	47530558	47530558	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccgtgaattttaaatcaatGatgtccaagtttgttgttcc	10	17	7	7	1	1	2	1	2	0	0	4	2	4	2	3	0	0	3	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530558G>A	ENST00000426342.1	-	7	1271	c.525C>T	c.(523-525)atC>atT	p.I175I	MDGA2_ENST00000439988.3_Silent_p.I473I|MDGA2_ENST00000399232.2_Silent_p.I404I|MDGA2_ENST00000357362.3_Silent_p.I175I	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	404	Ig-like 2.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTAAATCAATGATGTCCAAGT	0.398													A	47530558	G	A	47530558	2	1	364	1	0	0	0	0	0	0	0	1	9482	1280	45	2		2	MDGA2	14	47530558	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187250	47530558	59818982	10514	34016											
MDGA2	161357	broad.mit.edu	37	chr14	47530712	47530712	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagatattttcacctcaCggccaatctggatgttgtca	10	12	9	10	1	4	1	3	0	1	1	4	2	4	2	2	3	0	2	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:47530712C>T	ENST00000426342.1	-	7	1117	c.371G>A	c.(370-372)cGt>cAt	p.R124H	MDGA2_ENST00000439988.3_Missense_Mutation_p.R422H|MDGA2_ENST00000399232.2_Missense_Mutation_p.R353H|MDGA2_ENST00000357362.3_Missense_Mutation_p.R124H	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	353	Ig-like 1.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TTTCACCTCACGGCCAATCTG	0.383													T	47530712	C	T	47530712	3	4	364	1	0	0	0	0	1	0	0	0	9482	536	19	1	1856	1	MDGA2	14	47530712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154	47530712	59818828	10515	34017											
MGAT2	4247	broad.mit.edu	37	chr14	50088095	50088095	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaaggaagaacgaggccCtcgccccaccgttgctggac	11	4	12	14	3	0	1	0	0	0	1	1	5	0	3	4	3	2	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50088095C>A	ENST00000305386.2	+	1	607	c.109C>A	c.(109-111)Ctc>Atc	p.L37I	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	37					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					GAACGAGGCCCTCGCCCCACC	0.682													A	50088095	C	A	50088095	3	1	364	1	0	0	0	0	1	0	0	0	9618	681	24	4	111	4	MGAT2	14	50088095	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2557383	50088095	57261445	10516	34018											
POLE2	5427	broad.mit.edu	37	chr14	50122474	50122474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaacatagcatctttattCtcctcttctagctgttttag	10	17	4	10	0	4	0	0	0	4	0	5	0	4	0	1	0	3	3	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50122474C>T	ENST00000539565.2	-	10	983	c.765G>A	c.(763-765)gaG>gaA	p.E255E	POLE2_ENST00000556584.1_5'UTR|POLE2_ENST00000216367.5_Silent_p.E281E|POLE2_ENST00000554396.1_Silent_p.E281E	NM_001197330.1	NP_001184259.1	P56282	DPOE2_HUMAN	polymerase (DNA directed), epsilon 2, accessory subunit	281					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	DNA binding|DNA-directed DNA polymerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	10	all_epithelial(31;0.0021)|Breast(41;0.0124)					CATCTTTATTCTCCTCTTCTA	0.333													T	50122474	C	T	50122474	2	4	364	1	0	0	0	0	0	0	0	1	12274	912	32	2		2	POLE2	14	50122474	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34379	50122474	57227066	10517	34019											
KLHDC1	122773	broad.mit.edu	37	chr14	50218357	50218357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgttagaaagtcagatatCtttattacctcctaaacttc	13	15	4	9	0	2	2	1	0	1	2	4	2	3	2	2	0	2	1	2	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50218357C>T	ENST00000359332.2	+	13	1178	c.1088C>T	c.(1087-1089)tCt>tTt	p.S363F		NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	363						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AGTCAGATATCTTTATTACCT	0.333													T	50218357	C	T	50218357	3	4	364	1	0	0	0	0	1	0	0	0	8412	913	32	2	1138	2	KLHDC1	14	50218357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95883	50218357	57131183	10518	34020											
KLHDC2	23588	broad.mit.edu	37	chr14	50238339	50238339	+	Frame_Shift_Del	DEL	T	T	-																															aagtcagaggattatatgacTtttatctgcctagagaagaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50238339delT	ENST00000298307.5	+	2	1042	c.181delT	c.(181-183)tttfs	p.F61fs	KLHDC2_ENST00000553538.1_3'UTR|KLHDC2_ENST00000554589.1_Frame_Shift_Del_p.F61fs|KLHDC2_ENST00000557247.1_Frame_Shift_Del_p.F61fs	NM_014315.2	NP_055130.1	Q9Y2U9	KLDC2_HUMAN	kelch domain containing 2	61						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(31;0.000959)|Breast(41;0.0117)					ATTATATGACTTTTATCTGCC	0.313													-	50238339	T	-	50238339	7	5	364	1	0	1	0	1	0	0	0	0	8414	1609	56	0	187	0	KLHDC2	14	50238339	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	19982	50238339	57111201	10519	34021											
SOS2	6655	broad.mit.edu	37	chr14	50623748	50623748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggttggacatattccttgcGaaatcttttaaggtctgcac	9	15	9	8	1	2	0	0	0	2	0	3	2	3	1	1	3	2	2	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50623748G>A	ENST00000216373.5	-	12	2300	c.2026C>T	c.(2026-2028)Cgc>Tgc	p.R676C	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.R643C	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	676	N-terminal Ras-GEF.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATTCCTTGCGAAATCTTTTA	0.358													A	50623748	G	A	50623748	3	1	364	1	0	0	0	0	1	0	0	0	15031	1058	37	1	2020	1	SOS2	14	50623748	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	385409	50623748	56725792	10520	34022											
SOS2	6655	broad.mit.edu	37	chr14	50626452	50626452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattatgctgttctcatcttTggatactaattcaaatgcat	11	18	5	7	0	3	0	2	0	2	0	4	1	3	1	0	1	3	3	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626452T>C	ENST00000216373.5	-	10	1823	c.1549A>G	c.(1549-1551)Aaa>Gaa	p.K517E	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.K484E	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	517	PH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TTCTCATCTTTGGATACTAAT	0.343													C	50626452	T	C	50626452	3	2	364	1	0	0	0	0	1	0	0	0	15031	1821	63	3	2505	3	SOS2	14	50626452	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2704	50626452	56723088	10521	34023											
SOS2	6655	broad.mit.edu	37	chr14	50626689	50626689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataatgaattcattacaacActgtccaatatctttgcctt	13	15	3	10	0	2	1	1	1	1	0	3	1	3	1	2	0	3	0	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50626689A>G	ENST00000216373.5	-	10	1586	c.1312T>C	c.(1312-1314)Tgt>Cgt	p.C438R	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.C405R	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	438					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TCATTACAACACTGTCCAATA	0.353													G	50626689	A	G	50626689	3	3	364	1	0	0	0	0	1	0	0	0	15031	159	6	3	2742	3	SOS2	14	50626689	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	237	50626689	56722851	10522	34024											
MAP4K5	11183	broad.mit.edu	37	chr14	50892641	50892641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctcatctgacttgaagCttttaccctgcatcccatgt	8	15	5	13	0	2	2	1	2	1	0	3	2	3	2	3	0	4	2	3	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:50892641C>T	ENST00000013125.4	-	30	2699	c.2381G>A	c.(2380-2382)aGc>aAc	p.S794N		NM_006575.4|NM_198794.2	NP_006566.2|NP_942089.1	Q9Y4K4	M4K5_HUMAN	mitogen-activated protein kinase kinase kinase kinase 5	794	CNH.				activation of JUN kinase activity	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_epithelial(31;0.000415)|Breast(41;0.0102)					TGACTTGAAGCTTTTACCCTG	0.403													T	50892641	C	T	50892641	3	4	364	1	0	0	0	0	1	0	0	0	9338	797	28	2	171	2	MAP4K5	14	50892641	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	265952	50892641	56456899	10523	34025											
NIN	51199	broad.mit.edu	37	chr14	51224050	51224050	+	Frame_Shift_Del	DEL	T	T	-																															tctcaagcatcttcagtttcTtttttagcacagaaacatca																								rs34636266		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51224050delT	ENST00000245441.5	-	18	3888	c.3698delA	c.(3697-3699)aagfs	p.K1234fs	NIN_ENST00000324330.9_Frame_Shift_Del_p.K1234fs|NIN_ENST00000453196.1_Frame_Shift_Del_p.K1234fs|NIN_ENST00000382043.4_Intron|NIN_ENST00000382041.3_Frame_Shift_Del_p.K1234fs|NIN_ENST00000389868.3_Intron|NIN_ENST00000530997.2_Frame_Shift_Del_p.K1234fs	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	1234					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTCAGTTTCTTTTTTAGCAC	0.418			T	PDGFRB	MPD								-	51224050	T	-	51224050	7	5	364	1	0	1	0	1	0	0	0	0	10493	1609	56	0	2907	0	NIN	14	51224050	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	331409	51224050	56125490	10524	34026											
NIN	51199	broad.mit.edu	37	chr14	51245488	51245488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactcggctcttaccttccGcttcatactcctcactgcgt	6	13	5	17	3	3	0	2	0	1	0	6	0	5	0	3	1	3	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51245488G>A	ENST00000245441.5	-	6	660	c.470C>T	c.(469-471)gCg>gTg	p.A157V	NIN_ENST00000382043.4_Missense_Mutation_p.A157V|NIN_ENST00000382041.3_Missense_Mutation_p.A157V|NIN_ENST00000389868.3_Missense_Mutation_p.A157V|NIN_ENST00000324330.9_Missense_Mutation_p.A157V|NIN_ENST00000453196.1_Missense_Mutation_p.A157V|NIN_ENST00000530997.2_Missense_Mutation_p.A157V	NM_020921.3	NP_065972	Q8N4C6	NIN_HUMAN	ninein (GSK3B interacting protein)	157					centrosome localization	centrosome|microtubule	calcium ion binding|GTP binding|protein binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(13)|lung(16)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	71	all_epithelial(31;0.00244)|Breast(41;0.127)					CTTACCTTCCGCTTCATACTC	0.522			T	PDGFRB	MPD								A	51245488	G	A	51245488	3	1	364	1	0	0	0	0	1	0	0	0	10493	1087	38	1	6183	1	NIN	14	51245488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21438	51245488	56104052	10525	34027											
ABHD12B	145447	broad.mit.edu	37	chr14	51347289	51347289	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcagtgcagaacacaGgtcagtggctctgcttacat	10	10	11	10	0	3	1	2	0	1	1	3	1	3	1	0	3	4	4	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51347289G>T	ENST00000337334.2	+	4	470	c.455G>T	c.(454-456)aGg>aTg	p.R152M	ABHD12B_ENST00000353130.1_Splice_Site_p.R75M|PYGL_ENST00000532462.1_Intron|ABHD12B_ENST00000395752.1_Splice_Site_p.R45M|ABHD12B_ENST00000554241.1_3'UTR	NM_001206673.1	NP_001193602.1	Q7Z5M8	AB12B_HUMAN	abhydrolase domain containing 12B	152							hydrolase activity			breast(2)|endometrium(1)|large_intestine(2)|lung(5)	10	all_epithelial(31;0.00481)|Breast(41;0.148)					GCAGAACACAGGTCAGTGGCT	0.483													T	51347289	G	T	51347289	5	4	364	1	0	0	0	0	0	0	1	0	77	1014	35	4	248	4	ABHD12B	14	51347289	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101801	51347289	56002251	10526	34028											
PYGL	5836	broad.mit.edu	37	chr14	51375006	51375006	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgtacagctgactcaCtttatcttgacacttgacat	11	13	5	12	0	2	3	1	3	1	0	2	3	2	3	1	0	2	2	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51375006C>A	ENST00000216392.7	-	19	2694	c.2362G>T	c.(2362-2364)Gtg>Ttg	p.V788L	PYGL_ENST00000532462.1_Missense_Mutation_p.V788L|PYGL_ENST00000544180.2_Missense_Mutation_p.V754L	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	788					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	AGCTGACTCACTTTATCTTGA	0.303													A	51375006	C	A	51375006	3	1	364	1	0	0	0	0	1	0	0	0	12949	565	20	4	189	4	PYGL	14	51375006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27717	51375006	55974534	10527	34029											
PYGL	5836	broad.mit.edu	37	chr14	51376748	51376748	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccccatttagcatgaacTtcatattgcctgtccccgag	8	11	9	13	1	1	1	1	1	0	0	2	2	2	1	5	1	3	1	5	1	3	5	rs113993987		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51376748T>G	ENST00000216392.7	-	17	2374	c.2042A>C	c.(2041-2043)aAg>aCg	p.K681T	PYGL_ENST00000532462.1_Missense_Mutation_p.K681T|PYGL_ENST00000544180.2_Missense_Mutation_p.K647T	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	681					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	TAGCATGAACTTCATATTGCC	0.488													G	51376748	T	G	51376748	3	3	364	1	0	0	0	0	1	0	0	0	12949	1609	56	5	517	5	PYGL	14	51376748	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1742	51376748	55972792	10528	34030											
PYGL	5836	broad.mit.edu	37	chr14	51387279	51387279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attgtcattgggatagaggaCccgggagatgttctcggcca	9	10	14	8	2	2	2	1	0	1	2	3	5	2	4	2	4	0	1	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51387279C>T	ENST00000216392.7	-	7	1167	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	PYGL_ENST00000532462.1_Missense_Mutation_p.V279I|PYGL_ENST00000544180.2_Missense_Mutation_p.V245I	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	279					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGATAGAGGACCCGGGAGATG	0.443													T	51387279	C	T	51387279	3	4	364	1	0	0	0	0	1	0	0	0	12949	507	18	2	1764	2	PYGL	14	51387279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10531	51387279	55962261	10529	34031											
TRIM9	114088	broad.mit.edu	37	chr14	51464729	51464729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccactttagatgccacGcagttctcgctctgagggat	8	10	10	13	2	2	2	0	1	2	1	3	3	2	3	3	1	2	3	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:51464729G>A	ENST00000360392.4	-	7	1778	c.1642C>T	c.(1642-1644)Cgt>Tgt	p.R548C	TRIM9_ENST00000298355.3_Intron|TRIM9_ENST00000338969.5_Intron	NM_052978.4	NP_443210.1	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	0	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TAGATGCCACGCAGTTCTCGC	0.562													A	51464729	G	A	51464729	3	1	364	1	0	0	0	0	1	0	0	0	16650	1087	38	1	556	1	TRIM9	14	51464729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77450	51464729	55884811	10530	34032											
FRMD6	122786	broad.mit.edu	37	chr14	52186962	52186962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagacaccaagccccgggAcacggggccagaagacagct	12	1	14	14	2	0	3	0	0	0	3	0	4	0	4	4	4	2	2	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52186962A>C	ENST00000395718.2	+	11	1475	c.1190A>C	c.(1189-1191)gAc>gCc	p.D397A	FRMD6_ENST00000356218.4_Missense_Mutation_p.D397A|FRMD6_ENST00000344768.5_Missense_Mutation_p.D405A|FRMD6_ENST00000553556.1_Missense_Mutation_p.D47A|FRMD6_ENST00000554167.1_Missense_Mutation_p.D328A	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	405						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AAGCCCCGGGACACGGGGCCA	0.617													C	52186962	A	C	52186962	3	2	364	1	0	0	0	0	1	0	0	0	6106	275	10	5	1228	5	FRMD6	14	52186962	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	722233	52186962	55162578	10531	34033											
FRMD6	122786	broad.mit.edu	37	chr14	52188733	52188733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagagtctctggaagtcaGcccagacatgtgcatctaca	12	9	10	10	0	3	3	1	1	2	2	4	4	3	4	1	1	3	1	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188733G>A	ENST00000395718.2	+	12	1688	c.1403G>A	c.(1402-1404)aGc>aAc	p.S468N	FRMD6_ENST00000356218.4_Missense_Mutation_p.S468N|FRMD6_ENST00000344768.5_Missense_Mutation_p.S476N|FRMD6_ENST00000553556.1_Missense_Mutation_p.S118N|FRMD6_ENST00000554167.1_Missense_Mutation_p.S399N	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	476						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CTGGAAGTCAGCCCAGACATG	0.468													A	52188733	G	A	52188733	3	1	364	1	0	0	0	0	1	0	0	0	6106	971	34	2	1445	2	FRMD6	14	52188733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1771	52188733	55160807	10532	34034											
FRMD6	122786	broad.mit.edu	37	chr14	52188794	52188794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcggaagctgaatggacaCtctggtgagctcttacggga	9	9	14	9	3	2	2	0	2	2	0	3	5	2	5	0	4	3	2	0	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52188794C>A	ENST00000395718.2	+	12	1749	c.1464C>A	c.(1462-1464)caC>caA	p.H488Q	FRMD6_ENST00000356218.4_Missense_Mutation_p.H488Q|FRMD6_ENST00000344768.5_Missense_Mutation_p.H496Q|FRMD6_ENST00000553556.1_Missense_Mutation_p.H138Q|FRMD6_ENST00000554167.1_Missense_Mutation_p.H419Q	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	496						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGAATGGACACTCTGGTGAGC	0.507													A	52188794	C	A	52188794	3	1	364	1	0	0	0	0	1	0	0	0	6106	564	20	4	1506	4	FRMD6	14	52188794	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	52188794	55160746	10533	34035											
FRMD6	122786	broad.mit.edu	37	chr14	52194509	52194509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatcgacacagcttgaGcctcgatgacatcagacttt	11	10	8	12	2	1	4	1	3	0	1	3	6	1	4	1	0	2	1	1	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194509G>T	ENST00000395718.2	+	14	1892	c.1607G>T	c.(1606-1608)aGc>aTc	p.S536I	FRMD6_ENST00000356218.4_Missense_Mutation_p.S536I|FRMD6_ENST00000344768.5_Missense_Mutation_p.S544I|FRMD6_ENST00000553556.1_Missense_Mutation_p.S186I|FRMD6_ENST00000554167.1_Missense_Mutation_p.S467I	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	544						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					CACAGCTTGAGCCTCGATGAC	0.448													T	52194509	G	T	52194509	3	4	364	1	0	0	0	0	1	0	0	0	6106	971	34	4	1657	4	FRMD6	14	52194509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5715	52194509	55155031	10534	34036											
FRMD6	122786	broad.mit.edu	37	chr14	52194543	52194543	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agactttaccagaaagacttCctgcgcattgcaggtctgtg	10	11	10	10	1	1	3	0	0	1	3	2	3	2	3	2	1	3	2	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52194543C>T	ENST00000395718.2	+	14	1926	c.1641C>T	c.(1639-1641)ttC>ttT	p.F547F	FRMD6_ENST00000356218.4_Silent_p.F547F|FRMD6_ENST00000344768.5_Silent_p.F555F|FRMD6_ENST00000553556.1_Silent_p.F197F|FRMD6_ENST00000554167.1_Silent_p.F478F	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	555						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					AGAAAGACTTCCTGCGCATTG	0.488													T	52194543	C	T	52194543	2	4	364	1	0	0	0	0	0	0	0	1	6106	854	30	2		2	FRMD6	14	52194543	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	52194543	55154997	10535	34037											
NID2	22795	broad.mit.edu	37	chr14	52535644	52535644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcggcccgcaacattagCaacggcagcagcagtagcac	11	3	12	15	4	0	0	0	0	0	0	0	0	0	0	2	2	6	7	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52535644C>T	ENST00000216286.5	-	1	68	c.69G>A	c.(67-69)ttG>ttA	p.L23L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	23						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					GCAACATTAGCAACGGCAGCA	0.687													T	52535644	C	T	52535644	2	4	364	1	0	0	0	0	0	0	0	1	10491	709	25	2		2	NID2	14	52535644	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341101	52535644	54813896	10536	34038											
PTGER2	5732	broad.mit.edu	37	chr14	52781701	52781701	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcacccctacttctaccaGcgccgcgtctcgcgctccgg	4	7	11	19	6	2	0	0	0	2	0	4	0	3	0	5	2	3	2	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52781701G>A	ENST00000245457.5	+	1	589	c.435G>A	c.(433-435)caG>caA	p.Q145Q	PTGER2_ENST00000557436.1_Intron	NM_000956.3	NP_000947.2	P43116	PE2R2_HUMAN	prostaglandin E receptor 2 (subtype EP2), 53kDa	145						integral to plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	Breast(41;0.0639)|all_epithelial(31;0.0729)				Alprostadil(DB00770)|Iloprost(DB01088)	ACTTCTACCAGCGCCGCGTCT	0.642													A	52781701	G	A	52781701	2	1	364	1	0	0	0	0	0	0	0	1	12829	962	34	2		2	PTGER2	14	52781701	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246057	52781701	54567839	10537	34039											
TXNDC16	57544	broad.mit.edu	37	chr14	52922112	52922112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgctagctagtgggatgCtctctattttgccttctgtg	4	17	12	8	0	2	0	0	0	2	0	3	1	2	1	1	1	4	3	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922112C>T	ENST00000281741.4	-	18	2143	c.1772G>A	c.(1771-1773)aGc>aAc	p.S591N	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	591					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					TAGTGGGATGCTCTCTATTTT	0.403													T	52922112	C	T	52922112	3	4	364	1	0	0	0	0	1	0	0	0	16897	797	28	2	721	2	TXNDC16	14	52922112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140411	52922112	54427428	10538	34040											
TXNDC16	57544	broad.mit.edu	37	chr14	52922169	52922169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctggaagacttgcagcaTatttggttgacctatggaga	10	11	14	6	0	0	3	0	1	0	2	0	5	0	4	1	4	2	4	1	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:52922169T>C	ENST00000281741.4	-	18	2086	c.1715A>G	c.(1714-1716)tAt>tGt	p.Y572C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	572					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACTTGCAGCATATTTGGTTGA	0.433													C	52922169	T	C	52922169	3	2	364	1	0	0	0	0	1	0	0	0	16897	1406	49	3	778	3	TXNDC16	14	52922169	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57	52922169	54427371	10539	34041											
TXNDC16	57544	broad.mit.edu	37	chr14	53003474	53003474	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggcattcacatcaaacaAggtgtcagtagggaattctc	14	10	9	8	0	4	0	3	0	1	0	5	1	4	1	0	3	1	2	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53003474A>C	ENST00000281741.4	-	6	726	c.355T>G	c.(355-357)Ttg>Gtg	p.L119V	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	119					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					ACATCAAACAAGGTGTCAGTA	0.308													C	53003474	A	C	53003474	3	2	364	1	0	0	0	0	1	0	0	0	16897	69	3	5	2186	5	TXNDC16	14	53003474	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81305	53003474	54346066	10540	34042											
GNPNAT1	64841	broad.mit.edu	37	chr14	53251269	53251269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagccttctccaggatGtgttggggaaatggctggag	10	9	14	8	0	1	0	0	0	1	0	2	3	1	3	3	5	2	2	3	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:53251269G>A	ENST00000216410.3	-	2	287	c.100C>T	c.(100-102)Cat>Tat	p.H34Y	GNPNAT1_ENST00000554230.1_Intron	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	34					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TCTCCAGGATGTGTTGGGGAA	0.403													A	53251269	G	A	53251269	3	1	364	1	0	0	0	0	1	0	0	0	6600	1377	48	2	474	2	GNPNAT1	14	53251269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247795	53251269	54098271	10541	34043											
CGRRF1	10668	broad.mit.edu	37	chr14	54996915	54996915	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcattagaagatgctctgtaTagtgaatatctctatcagga	13	13	9	6	0	3	3	1	1	2	2	4	4	3	4	0	1	1	3	0	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:54996915T>C	ENST00000216420.7	+	3	525	c.393T>C	c.(391-393)taT>taC	p.Y131Y	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	131					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding	p.Y131*(1)		endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						ATGCTCTGTATAGTGAATATC	0.373													C	54996915	T	C	54996915	2	2	364	1	0	0	0	0	0	0	0	1	3336	1413	49	3		3	CGRRF1	14	54996915	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1745646	54996915	52352625	10542	34044											
CGRRF1	10668	broad.mit.edu	37	chr14	55005088	55005088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaagataaagacaaacCgaagactctttgaagacatc	19	6	8	8	1	1	6	0	1	1	5	2	7	1	6	1	0	2	1	1	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55005088C>T	ENST00000216420.7	+	6	1118	c.986C>T	c.(985-987)cCg>cTg	p.P329L		NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	329					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AAAGACAAACCGAAGACTCTT	0.383													T	55005088	C	T	55005088	3	4	364	1	0	0	0	0	1	0	0	0	3336	652	23	1	1008	1	CGRRF1	14	55005088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8173	55005088	52344452	10543	34045											
SAMD4A	23034	broad.mit.edu	37	chr14	55034670	55034670	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcggggtgctggcgggCtggtttaagggctggaacga	6	8	20	7	3	0	0	0	0	0	0	1	2	0	1	0	8	2	4	0	8	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55034670C>T	ENST00000251091.5	+	1	341	c.36C>T	c.(34-36)ggC>ggT	p.G12G	SAMD4A_ENST00000357634.3_Silent_p.G11G|SAMD4A_ENST00000555112.1_3'UTR|SAMD4A_ENST00000392067.3_Silent_p.G12G|SAMD4A_ENST00000554335.1_Silent_p.G12G	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	12					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						TGCTGGCGGGCTGGTTTAAGG	0.697													T	55034670	C	T	55034670	2	4	364	1	0	0	0	0	0	0	0	1	13912	784	28	2		2	SAMD4A	14	55034670	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29582	55034670	52314870	10544	34046											
WDHD1	11169	broad.mit.edu	37	chr14	55408345	55408345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcactttcatcaaccacacGttttcgcttctttgcttcag	8	16	4	13	2	5	0	4	0	1	0	6	0	5	0	1	0	2	3	1	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55408345G>T	ENST00000360586.3	-	26	3318	c.3253C>A	c.(3253-3255)Cgt>Agt	p.R1085S	WDHD1_ENST00000359167.4_Missense_Mutation_p.R603S|WDHD1_ENST00000421192.1_Missense_Mutation_p.R962S|WDHD1_ENST00000420358.2_Missense_Mutation_p.R962S	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1085						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCAACCACACGTTTTCGCTTC	0.373													T	55408345	G	T	55408345	3	4	364	1	0	0	0	0	1	0	0	0	17373	1145	40	4	140	4	WDHD1	14	55408345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	373675	55408345	51941195	10545	34047											
SOCS4	122809	broad.mit.edu	37	chr14	55509911	55509911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttattcagatgctgagaCagtgaatggtatagagaaaa	16	10	12	3	0	1	4	1	2	0	3	1	7	1	4	0	1	1	3	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55509911C>T	ENST00000395472.2	+	2	484	c.152C>T	c.(151-153)aCa>aTa	p.T51I	SOCS4_ENST00000339298.2_Missense_Mutation_p.T51I|SOCS4_ENST00000555846.1_Missense_Mutation_p.T51I	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	51					intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						GATGCTGAGACAGTGAATGGT	0.428													T	55509911	C	T	55509911	3	4	364	1	0	0	0	0	1	0	0	0	15010	478	17	2	154	2	SOCS4	14	55509911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101566	55509911	51839629	10546	34048											
SOCS4	122809	broad.mit.edu	37	chr14	55510641	55510641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggagtgatggataaataCgcagccgaagcactactgga	13	7	14	7	2	0	1	0	1	0	0	0	5	0	4	1	4	4	2	1	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55510641C>T	ENST00000395472.2	+	2	1214	c.882C>T	c.(880-882)taC>taT	p.Y294Y	SOCS4_ENST00000339298.2_Silent_p.Y294Y|SOCS4_ENST00000555846.1_Silent_p.Y294Y	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	294	SH2.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TGGATAAATACGCAGCCGAAG	0.428													T	55510641	C	T	55510641	2	4	364	1	0	0	0	0	0	0	0	1	15010	547	19	1		1	SOCS4	14	55510641	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	730	55510641	51838899	10547	34049											
SOCS4	122809	broad.mit.edu	37	chr14	55511019	55511019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctatgaaattatatctgaaGgaatatcattataaatcaaa	19	14	4	4	0	4	2	2	2	2	0	4	3	4	3	0	1	0	0	0	1	11	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:55511019G>T	ENST00000395472.2	+	2	1592	c.1260G>T	c.(1258-1260)aaG>aaT	p.K420N	SOCS4_ENST00000339298.2_Missense_Mutation_p.K420N|SOCS4_ENST00000555846.1_Missense_Mutation_p.K420N	NM_080867.2|NM_199421.1	NP_543143.1|NP_955453.1	Q8WXH5	SOCS4_HUMAN	suppressor of cytokine signaling 4	420	SOCS box.				intracellular signal transduction|negative regulation of signal transduction|regulation of growth					central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	14						TATATCTGAAGGAATATCATT	0.348													T	55511019	G	T	55511019	3	4	364	1	0	0	0	0	1	0	0	0	15010	991	35	4	1262	4	SOCS4	14	55511019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	378	55511019	51838521	10548	34050											
SLC35F4	341880	broad.mit.edu	37	chr14	58056066	58056066	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaatagaagttcttataaGtaatttttacaatctgtgta	14	16	7	4	0	2	1	0	0	2	1	2	1	2	1	0	1	1	4	0	1	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056066G>T	ENST00000556826.1	-	3	691	c.455C>A	c.(454-456)aCt>aAt	p.T152N	SLC35F4_ENST00000554729.1_Missense_Mutation_p.T29N|SLC35F4_ENST00000339762.6_Missense_Mutation_p.T188N	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTTCTTATAAGTAATTTTTAC	0.398													T	58056066	G	T	58056066	3	4	364	1	0	0	0	0	1	0	0	0	14685	1029	36	4	1026	4	SLC35F4	14	58056066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2545047	58056066	49293474	10549	34051											
SLC35F4	341880	broad.mit.edu	37	chr14	58056155	58056155	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccttcagaaccatggaCgtgcaggacaggcagcgagc	11	5	13	12	2	1	1	1	0	0	1	1	4	1	3	2	3	5	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58056155C>T	ENST00000556826.1	-	3	602	c.366G>A	c.(364-366)acG>acA	p.T122T	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000339762.6_Silent_p.T158T	NM_001206920.1	NP_001193849.1			solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GAACCATGGACGTGCAGGACA	0.443													T	58056155	C	T	58056155	2	4	364	1	0	0	0	0	0	0	0	1	14685	523	19	1		1	SLC35F4	14	58056155	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89	58056155	49293385	10550	34052											
SLC35F4	341880	broad.mit.edu	37	chr14	58063577	58063577	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgccagctgcctcccactGgtcagtttgtggaagagatc	7	10	12	12	0	1	1	1	0	0	1	3	3	2	2	3	2	3	3	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58063577G>T	ENST00000339762.6	-	1	38	c.39C>A	c.(37-39)acC>acA	p.T13T	SLC35F4_ENST00000554729.1_5'UTR|SLC35F4_ENST00000556826.1_Intron|SLC35F4_ENST00000557430.1_Intron					solute carrier family 35, member F4											breast(1)|endometrium(4)|large_intestine(3)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCTCCCACTGGTCAGTTTGT	0.423													T	58063577	G	T	58063577	2	4	364	1	0	0	0	0	0	0	0	1	14685	1335	47	4		4	SLC35F4	14	58063577	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7422	58063577	49285963	10551	34053											
C14orf37	145407	broad.mit.edu	37	chr14	58471494	58471494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcggctaagagcattactCgatcttgcatgctgttgaat	9	14	10	8	2	1	2	0	1	1	1	3	3	1	2	0	1	4	5	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58471494C>T	ENST00000267485.7	-	8	2479	c.2285G>A	c.(2284-2286)cGa>cAa	p.R762Q		NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	762						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GAGCATTACTCGATCTTGCAT	0.378													T	58471494	C	T	58471494	3	4	364	1	0	0	0	0	1	0	0	0	1784	884	31	1	43	1	C14orf37	14	58471494	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	407917	58471494	48878046	10552	34054											
C14orf37	145407	broad.mit.edu	37	chr14	58605246	58605246	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacactcagggtgtactcGgaagtttcgagtggttgctt	8	13	12	8	2	2	0	2	0	0	0	4	2	2	1	0	3	3	4	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58605246G>T	ENST00000267485.7	-	2	1025	c.831C>A	c.(829-831)tcC>tcA	p.S277S	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	277						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGGTGTACTCGGAAGTTTCGA	0.552													T	58605246	G	T	58605246	2	4	364	1	0	0	0	0	0	0	0	1	1784	1103	39	4		4	C14orf37	14	58605246	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133752	58605246	48744294	10553	34055											
ACTR10	55860	broad.mit.edu	37	chr14	58678106	58678106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggatatagggaaagcCtggtgttacccatatctttt	10	15	10	6	0	1	0	0	0	1	0	1	2	1	2	2	3	2	1	2	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58678106C>A	ENST00000254286.4	+	5	519	c.439C>A	c.(439-441)Ctg>Atg	p.L147M		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	147						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						TAGGGAAAGCCTGGTGTTACC	0.383													A	58678106	C	A	58678106	3	1	364	1	0	0	0	0	1	0	0	0	208	680	24	4	457	4	ACTR10	14	58678106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72860	58678106	48671434	10554	34056											
ACTR10	55860	broad.mit.edu	37	chr14	58690342	58690342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttttcttccttaaagcgCgtacttgctttgtaagtgat	7	18	7	9	2	1	1	0	1	1	0	3	1	3	1	2	0	3	3	2	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58690342C>T	ENST00000254286.4	+	9	717	c.637C>T	c.(637-639)Cgt>Tgt	p.R213C		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	213						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CCTTAAAGCGCGTACTTGCTT	0.338													T	58690342	C	T	58690342	3	4	364	1	0	0	0	0	1	0	0	0	208	768	27	1	671	1	ACTR10	14	58690342	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12236	58690342	48659198	10555	34057											
ACTR10	55860	broad.mit.edu	37	chr14	58698849	58698849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataggtggcacttctatgttGccaggatttctccacagatt	9	14	9	9	0	2	1	0	0	2	1	3	2	2	2	2	3	1	2	2	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58698849G>A	ENST00000254286.4	+	12	1016	c.936G>A	c.(934-936)ttG>ttA	p.L312L		NM_018477.2	NP_060947.1	Q9NZ32	ARP10_HUMAN	actin-related protein 10 homolog (S. cerevisiae)	312						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|urinary_tract(1)	13						CTTCTATGTTGCCAGGATTTC	0.358													A	58698849	G	A	58698849	2	1	364	1	0	0	0	0	0	0	0	1	208	1310	46	2		2	ACTR10	14	58698849	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8507	58698849	48650691	10556	34058											
PSMA3	5684	broad.mit.edu	37	chr14	58737155	58737155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatttacatagtacatgacGaagttaaggataaagctttt	16	13	8	4	1	0	1	0	1	0	0	0	4	0	2	0	1	3	3	0	1	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58737155G>A	ENST00000216455.4	+	9	700	c.610G>A	c.(610-612)Gaa>Aaa	p.E204K	RP11-349A22.5_ENST00000556002.1_RNA|RP11-349A22.5_ENST00000554360.1_RNA|RP11-349A22.5_ENST00000554378.1_RNA|RP11-349A22.5_ENST00000555275.1_RNA|PSMA3_ENST00000412908.2_Missense_Mutation_p.E197K|PSMA3_ENST00000557508.1_Missense_Mutation_p.E129K	NM_002788.3|NM_152132.2	NP_002779.1|NP_687033.1	P25788	PSA3_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 3	204					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(2)	12						AGTACATGACGAAGTTAAGGA	0.348													A	58737155	G	A	58737155	3	1	364	1	0	0	0	0	1	0	0	0	12753	1059	37	1	644	1	PSMA3	14	58737155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38306	58737155	48612385	10557	34059											
ARID4A	5926	broad.mit.edu	37	chr14	58831083	58831083	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcctttagaaaccctgaAgttagaagttggagagaatg	14	9	12	6	0	0	4	0	1	0	3	0	6	0	5	2	1	2	3	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831083A>G	ENST00000355431.3	+	20	2649	c.2276A>G	c.(2275-2277)aAg>aGg	p.K759R	ARID4A_ENST00000431317.2_Missense_Mutation_p.K759R|ARID4A_ENST00000348476.3_Missense_Mutation_p.K759R|ARID4A_ENST00000395168.3_Missense_Mutation_p.K759R	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	759					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GAAACCCTGAAGTTAGAAGTT	0.318													G	58831083	A	G	58831083	3	3	364	1	0	0	0	0	1	0	0	0	922	72	3	3	2350	3	ARID4A	14	58831083	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	93928	58831083	48518457	10558	34060											
ARID4A	5926	broad.mit.edu	37	chr14	58831193	58831193	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaaaaggaaagggaagaCgaagcaagacaaaagatctt	20	4	10	7	1	1	3	0	0	1	3	2	6	2	5	1	2	1	1	1	2	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831193C>T	ENST00000355431.3	+	20	2759	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	ARID4A_ENST00000431317.2_Nonsense_Mutation_p.R796*|ARID4A_ENST00000348476.3_Nonsense_Mutation_p.R796*|ARID4A_ENST00000395168.3_Nonsense_Mutation_p.R796*	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	796					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AAAGGGAAGACGAAGCAAGAC	0.343													T	58831193	C	T	58831193	4	4	364	1	0	0	0	0	0	1	0	0	922	528	19	1	2460	1	ARID4A	14	58831193	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	58831193	48518347	10559	34061											
ARID4A	5926	broad.mit.edu	37	chr14	58831663	58831663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggatgcaatgcctctgatCgggcctgaaaccttggtttg	8	11	13	9	1	1	2	0	2	1	0	2	4	1	3	3	3	3	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831663C>T	ENST00000355431.3	+	20	3229	c.2856C>T	c.(2854-2856)atC>atT	p.I952I	ARID4A_ENST00000431317.2_Silent_p.I952I|ARID4A_ENST00000348476.3_Silent_p.I952I|ARID4A_ENST00000395168.3_Silent_p.I952I	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	952	Retinoblastoma protein binding (Potential).				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity	p.I952I(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGCCTCTGATCGGGCCTGAAA	0.408													T	58831663	C	T	58831663	2	4	364	1	0	0	0	0	0	0	0	1	922	874	31	1		1	ARID4A	14	58831663	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	470	58831663	48517877	10560	34062											
ARID4A	5926	broad.mit.edu	37	chr14	58831923	58831923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctgaagaatctcaagaagGtctctgtgagagggaatcgg	12	9	14	6	1	2	4	1	2	2	3	5	6	2	5	0	3	1	1	0	3	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58831923G>C	ENST00000355431.3	+	20	3489	c.3116G>C	c.(3115-3117)gGt>gCt	p.G1039A	ARID4A_ENST00000431317.2_Missense_Mutation_p.G1039A|ARID4A_ENST00000348476.3_Missense_Mutation_p.G1039A|ARID4A_ENST00000395168.3_Missense_Mutation_p.G1039A	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1039					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TCTCAAGAAGGTCTCTGTGAG	0.408													C	58831923	G	C	58831923	3	2	364	1	0	0	0	0	1	0	0	0	922	1261	44	4	3190	4	ARID4A	14	58831923	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260	58831923	48517617	10561	34063											
TOMM20L	387990	broad.mit.edu	37	chr14	58869412	58869412	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttagttgtgggatccaacGaagaataaaaagttgcaaga	16	11	10	4	1	0	2	0	0	0	2	1	4	1	3	1	1	2	3	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:58869412G>A	ENST00000360945.2	+	3	237	c.195G>A	c.(193-195)acG>acA	p.T65T	RP11-517O13.1_ENST00000556734.1_RNA	NM_207377.2	NP_997260.1	Q6UXN7	TO20L_HUMAN	translocase of outer mitochondrial membrane 20 homolog (yeast)-like	65					protein targeting	integral to membrane|mitochondrial outer membrane translocase complex				large_intestine(2)|lung(2)	4						GGGATCCAACGAAGAATAAAA	0.308													A	58869412	G	A	58869412	2	1	364	1	0	0	0	0	0	0	0	1	16455	1045	37	1		1	TOMM20L	14	58869412	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37489	58869412	48480128	10562	34064											
DACT1	51339	broad.mit.edu	37	chr14	59112616	59112616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgaaagaatcaaaggcCgaacaagccgaaagcaagag	18	3	12	8	3	1	2	1	0	0	2	2	5	1	2	2	2	3	1	2	2	7	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112616C>T	ENST00000395153.3	+	4	1311	c.1164C>T	c.(1162-1164)gcC>gcT	p.A388A	DACT1_ENST00000335867.4_Silent_p.A425A|DACT1_ENST00000541264.2_Silent_p.A144A|DACT1_ENST00000556859.1_Silent_p.A144A	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	425					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AATCAAAGGCCGAACAAGCCG	0.572													T	59112616	C	T	59112616	2	4	364	1	0	0	0	0	0	0	0	1	4256	639	23	1		1	DACT1	14	59112616	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243204	59112616	48236924	10563	34065											
DACT1	51339	broad.mit.edu	37	chr14	59112882	59112882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagatgtcacagaaaaacaGcctgcagggcgtccccccgg	13	4	11	13	2	1	2	1	0	0	2	2	2	2	2	4	2	3	1	4	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59112882G>A	ENST00000395153.3	+	4	1577	c.1430G>A	c.(1429-1431)aGc>aAc	p.S477N	DACT1_ENST00000335867.4_Missense_Mutation_p.S514N|DACT1_ENST00000541264.2_Missense_Mutation_p.S233N|DACT1_ENST00000556859.1_Missense_Mutation_p.S233N	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	514					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						CAGAAAAACAGCCTGCAGGGC	0.592													A	59112882	G	A	59112882	3	1	364	1	0	0	0	0	1	0	0	0	4256	971	34	2	1555	2	DACT1	14	59112882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266	59112882	48236658	10564	34066											
DACT1	51339	broad.mit.edu	37	chr14	59113084	59113084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatgggcgtcgtgaagaaCtccagcctgaagcaccgcgg	11	5	13	12	4	0	3	0	2	0	1	2	3	1	3	3	2	4	1	3	2	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113084C>A	ENST00000395153.3	+	4	1779	c.1632C>A	c.(1630-1632)aaC>aaA	p.N544K	DACT1_ENST00000335867.4_Missense_Mutation_p.N581K|DACT1_ENST00000541264.2_Missense_Mutation_p.N300K|DACT1_ENST00000556859.1_Missense_Mutation_p.N300K	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	581					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						TCGTGAAGAACTCCAGCCTGA	0.667													A	59113084	C	A	59113084	3	1	364	1	0	0	0	0	1	0	0	0	4256	564	20	4	1757	4	DACT1	14	59113084	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202	59113084	48236456	10565	34067											
DACT1	51339	broad.mit.edu	37	chr14	59113639	59113639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgagcgagggcgagttCgtgggggagagcacaaccac	10	5	18	8	3	0	2	0	1	0	1	1	5	0	2	1	3	3	2	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59113639C>T	ENST00000395153.3	+	4	2334	c.2187C>T	c.(2185-2187)ttC>ttT	p.F729F	DACT1_ENST00000335867.4_Silent_p.F766F|DACT1_ENST00000541264.2_Silent_p.F485F|DACT1_ENST00000556859.1_Silent_p.F485F	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	766					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						AGGGCGAGTTCGTGGGGGAGA	0.582													T	59113639	C	T	59113639	2	4	364	1	0	0	0	0	0	0	0	1	4256	883	31	1		1	DACT1	14	59113639	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	555	59113639	48235901	10566	34068											
DAAM1	23002	broad.mit.edu	37	chr14	59730237	59730237	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaggtatttcattcatCttttgctgtttccgaaataa	10	16	8	7	2	3	0	2	0	1	0	4	3	4	1	1	2	1	3	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59730237C>A	ENST00000395125.1	+	1	65	c.42C>A	c.(40-42)atC>atA	p.I14I	DAAM1_ENST00000556135.1_Silent_p.I14I|DAAM1_ENST00000351081.1_Silent_p.I14I|DAAM1_ENST00000360909.3_Silent_p.I14I	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	14					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TTTCATTCATCTTTTGCTGTT	0.438													A	59730237	C	A	59730237	2	1	364	1	0	0	0	0	0	0	0	1	4249	903	32	4		4	DAAM1	14	59730237	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	616598	59730237	47619303	10567	34069											
DAAM1	23002	broad.mit.edu	37	chr14	59835392	59835392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaacaacgtgaaagggaaCgtaaaatgagaaaagctaaa	23	4	10	4	2	0	3	0	2	0	2	0	5	0	4	0	1	4	2	0	1	11	2	rs138713289		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:59835392C>T	ENST00000395125.1	+	25	3075	c.3052C>T	c.(3052-3054)Cgt>Tgt	p.R1018C	DAAM1_ENST00000351081.1_Missense_Mutation_p.R1018C|DAAM1_ENST00000360909.3_Missense_Mutation_p.R1008C|DAAM1_ENST00000553966.1_3'UTR	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	1018					actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		TGAAAGGGAACGTAAAATGAG	0.378													T	59835392	C	T	59835392	3	4	364	1	0	0	0	0	1	0	0	0	4249	536	19	1	3150	1	DAAM1	14	59835392	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105155	59835392	47514148	10568	34070											
DHRS7	51635	broad.mit.edu	37	chr14	60619860	60619860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtatccatgcacagagaacGctgggacattccaccattgt	11	9	10	11	1	0	1	0	0	0	1	2	3	2	2	3	2	2	3	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60619860G>A	ENST00000216500.5	-	5	885	c.430C>T	c.(430-432)Cgt>Tgt	p.R144C	PCNXL4_ENST00000553898.1_Intron|DHRS7_ENST00000553986.1_5'UTR|DHRS7_ENST00000557185.1_Missense_Mutation_p.R144C|PCNXL4_ENST00000406949.1_Intron|DHRS7_ENST00000536410.2_Missense_Mutation_p.R94C			Q9Y394	DHRS7_HUMAN	dehydrogenase/reductase (SDR family) member 7	144							binding|oxidoreductase activity			endometrium(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(108;0.121)		CACAGAGAACGCTGGGACATT	0.428													A	60619860	G	A	60619860	3	1	364	1	0	0	0	0	1	0	0	0	4534	1087	38	1	605	1	DHRS7	14	60619860	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784468	60619860	46729680	10569	34071											
PPM1A	5494	broad.mit.edu	37	chr14	60756575	60756575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacttagtccatgtgatgcGcacattagcgagtgagaaca	12	9	11	9	3	0	2	0	2	0	1	1	5	1	2	1	0	3	1	1	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:60756575G>A	ENST00000395076.4	+	4	1434	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	PPM1A_ENST00000529574.1_Missense_Mutation_p.R335H|PPM1A_ENST00000325642.3_Missense_Mutation_p.R408H	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	335					cell cycle arrest|insulin receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway|protein dephosphorylation|Wnt receptor signaling pathway	cytosol|nucleus|protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein serine/threonine phosphatase activity|signal transducer activity	p.R335H(1)		cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		CATGTGATGCGCACATTAGCG	0.433													A	60756575	G	A	60756575	3	1	364	1	0	0	0	0	1	0	0	0	12417	1087	38	1	1260	1	PPM1A	14	60756575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136715	60756575	46592965	10570	34072											
SIX4	51804	broad.mit.edu	37	chr14	61186556	61186556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attaaggaactggctgtttgCtccggaattggggatctgga	9	12	14	6	1	1	0	0	0	1	0	2	4	2	4	1	6	2	3	1	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61186556C>T	ENST00000216513.4	-	2	1530	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	491						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		TGGCTGTTTGCTCCGGAATTG	0.483													T	61186556	C	T	61186556	3	4	364	1	0	0	0	0	1	0	0	0	14443	797	28	2	882	2	SIX4	14	61186556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	429981	61186556	46162984	10571	34073											
SIX4	51804	broad.mit.edu	37	chr14	61190785	61190785	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcccggtgggggaggaaGaggacattttttgttgttta	7	14	15	5	1	1	1	0	0	1	1	1	4	1	4	1	5	1	2	1	5	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61190785G>T	ENST00000216513.4	-	1	67	c.8C>A	c.(7-9)tCt>tAt	p.S3Y		NM_017420.4	NP_059116.3	Q9UIU6	SIX4_HUMAN	SIX homeobox 4	3						nucleus				breast(5)|endometrium(1)|large_intestine(11)|liver(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28				OV - Ovarian serous cystadenocarcinoma(108;0.0275)		GGGGGAGGAAGAGGACATTTT	0.562													T	61190785	G	T	61190785	3	4	364	1	0	0	0	0	1	0	0	0	14443	942	33	4	2349	4	SIX4	14	61190785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4229	61190785	46158755	10572	34074											
SLC38A6	145389	broad.mit.edu	37	chr14	61518548	61518548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttctccaattttccatTctcatggattcgccattttt	6	21	4	10	1	2	0	1	0	2	0	6	1	3	1	3	1	0	1	3	1	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61518548T>C	ENST00000354886.2	+	14	1258	c.1094T>C	c.(1093-1095)tTc>tCc	p.F365S	SLC38A6_ENST00000267488.4_Missense_Mutation_p.F365S|SLC38A6_ENST00000456840.2_Missense_Mutation_p.F342S	NM_001172702.1	NP_001166173.1	Q8IZM9	S38A6_HUMAN	solute carrier family 38, member 6	365					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.0981)		AATTTTCCATTCTCATGGATT	0.323													C	61518548	T	C	61518548	3	2	364	1	0	0	0	0	1	0	0	0	14702	1783	62	3	1148	3	SLC38A6	14	61518548	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	327763	61518548	45830992	10573	34075											
PRKCH	5583	broad.mit.edu	37	chr14	61952287	61952287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccacattcagaagtctcGtcgttttgatgaagcacgag	10	12	10	9	3	2	3	1	2	1	1	5	4	3	3	1	0	1	3	1	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61952287G>A	ENST00000332981.5	+	10	1731	c.1346G>A	c.(1345-1347)cGt>cAt	p.R449H	PRKCH_ENST00000555082.1_Missense_Mutation_p.R288H	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	449	Protein kinase.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CAGAAGTCTCGTCGTTTTGAT	0.443													A	61952287	G	A	61952287	3	1	364	1	0	0	0	0	1	0	0	0	12599	1145	40	1	1384	1	PRKCH	14	61952287	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	433739	61952287	45397253	10574	34076											
PRKCH	5583	broad.mit.edu	37	chr14	61997175	61997175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagactggtgggcaatgggCgtgttgctctatgagatgct	7	12	16	6	1	1	2	0	1	1	2	1	3	1	2	0	3	2	5	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:61997175C>T	ENST00000556347.1	+	2	137	c.137C>T	c.(136-138)gCg>gTg	p.A46V	PRKCH_ENST00000332981.5_Silent_p.G541G|PRKCH_ENST00000555082.1_Silent_p.G380G																							GGGCAATGGGCGTGTTGCTCT	0.517													T	61997175	C	T	61997175	3	4	364	1	0	0	0	0	1	0	0	0	12599	755	27	1	1669	1	PRKCH	14	61997175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44888	61997175	45352365	10575	34077											
HIF1A	3091	broad.mit.edu	37	chr14	62204914	62204914	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttggcaatgtctccattAcccaccgctgaaacgccaaa	13	9	6	13	2	1	1	0	1	1	0	2	1	1	1	4	1	2	2	4	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62204914A>G	ENST00000394997.1	+	10	1627	c.1362A>G	c.(1360-1362)ttA>ttG	p.L454L	HIF1A_ENST00000337138.4_Silent_p.L453L|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Silent_p.L394L|HIF1A_ENST00000323441.6_Silent_p.L453L|HIF1A_ENST00000539097.1_Silent_p.L477L|RP11-618G20.1_ENST00000555937.1_RNA			Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	453	ODD.				cellular response to hypoxia|collagen metabolic process|connective tissue replacement involved in inflammatory response wound healing|elastin metabolic process|epithelial to mesenchymal transition|oxygen homeostasis|positive regulation of chemokine production|positive regulation of epithelial cell migration|positive regulation of hormone biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|regulation of transforming growth factor-beta2 production	cytoplasm|nucleolus|transcription factor complex	histone acetyltransferase binding|Hsp90 protein binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)		TGTCTCCATTACCCACCGCTG	0.418													G	62204914	A	G	62204914	2	3	364	1	0	0	0	0	0	0	0	1	7158	388	14	3		3	HIF1A	14	62204914	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	207739	62204914	45144626	10576	34078											
SNAPC1	6617	broad.mit.edu	37	chr14	62259551	62259551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagaatatacacaaggaaGataaacctttaagtctgagt	17	10	8	6	0	1	3	0	1	1	2	1	4	1	4	1	1	3	1	1	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:62259551G>A	ENST00000216294.4	+	9	1107	c.1003G>A	c.(1003-1005)Gat>Aat	p.D335N		NM_003082.3	NP_003073.1	Q16533	SNPC1_HUMAN	small nuclear RNA activating complex, polypeptide 1, 43kDa	335					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)	13				OV - Ovarian serous cystadenocarcinoma(108;0.0639)|BRCA - Breast invasive adenocarcinoma(234;0.186)		ACACAAGGAAGATAAACCTTT	0.289													A	62259551	G	A	62259551	3	1	364	1	0	0	0	0	1	0	0	0	14928	942	33	2	1037	2	SNAPC1	14	62259551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54637	62259551	45089989	10577	34079											
KCNH5	27133	broad.mit.edu	37	chr14	63269221	63269221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgctggccaatcgaaaagCaggatgttcattaaaaacct	15	9	8	9	2	1	0	1	0	0	0	3	2	1	1	2	2	2	3	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63269221C>T	ENST00000322893.7	-	9	1916	c.1648G>A	c.(1648-1650)Gct>Act	p.A550T	KCNH5_ENST00000394968.1_Missense_Mutation_p.A492T|KCNH5_ENST00000420622.2_Missense_Mutation_p.A550T	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	550					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AATCGAAAAGCAGGATGTTCA	0.493													T	63269221	C	T	63269221	3	4	364	1	0	0	0	0	1	0	0	0	8093	710	25	2	1364	2	KCNH5	14	63269221	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1009670	63269221	44080319	10578	34080											
RHOJ	57381	broad.mit.edu	37	chr14	63747715	63747715	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaccagctgaggccactCtcctaccccaacacggatgt	11	7	7	16	1	1	1	0	1	1	0	2	2	1	2	5	2	5	1	5	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63747715C>A	ENST00000316754.3	+	3	726	c.264C>A	c.(262-264)ctC>ctA	p.L88L	RHOJ_ENST00000555125.1_Silent_p.L88L	NM_020663.4	NP_065714.1	Q9H4E5	RHOJ_HUMAN	ras homolog family member J	88					actin cytoskeleton organization|regulation of cell shape|regulation of small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|upper_aerodigestive_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(108;0.00326)|all cancers(60;0.031)|BRCA - Breast invasive adenocarcinoma(234;0.119)		TGAGGCCACTCTCCTACCCCA	0.517													A	63747715	C	A	63747715	2	1	364	1	0	0	0	0	0	0	0	1	13430	900	32	4		4	RHOJ	14	63747715	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	478494	63747715	43601825	10579	34081											
PPP2R5E	5529	broad.mit.edu	37	chr14	63862003	63862003	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgttctgtttcataaacaaaCctgagagaagaggagaaaag	17	9	10	5	0	2	4	1	1	1	3	2	6	2	4	1	1	2	2	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:63862003C>T	ENST00000337537.3	-	7	1283	c.681G>A	c.(679-681)agG>agA	p.R227R	PPP2R5E_ENST00000553266.1_5'UTR|PPP2R5E_ENST00000555899.1_Splice_Site_p.R227R|PPP2R5E_ENST00000422769.2_Splice_Site_p.R151R	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	227					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CATAAACAAACCTGAGAGAAG	0.453													T	63862003	C	T	63862003	5	4	364	1	0	0	0	0	0	0	1	0	12478	521	18	2	754	2	PPP2R5E	14	63862003	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114288	63862003	43487537	10580	34082											
SGPP1	81537	broad.mit.edu	37	chr14	64152887	64152887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatggagaaaccaaccattCcataggtaatataccgataa	17	9	7	8	1	0	2	0	1	0	1	1	4	1	2	4	2	3	1	4	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64152887C>A	ENST00000247225.6	-	3	1356	c.1262G>T	c.(1261-1263)gGa>gTa	p.G421V		NM_030791.2	NP_110418.1	Q9BX95	SGPP1_HUMAN	sphingosine-1-phosphate phosphatase 1	421						endoplasmic reticulum membrane|integral to membrane	dihydrosphingosine-1-phosphate phosphatase activity|sphingosine-1-phosphate phosphatase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(4)|skin(2)	10				OV - Ovarian serous cystadenocarcinoma(108;0.0056)|all cancers(60;0.0141)|BRCA - Breast invasive adenocarcinoma(234;0.103)		ACCAACCATTCCATAGGTAAT	0.343													A	64152887	C	A	64152887	3	1	364	1	0	0	0	0	1	0	0	0	14312	855	30	4	67	4	SGPP1	14	64152887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290884	64152887	43196653	10581	34083											
SYNE2	23224	broad.mit.edu	37	chr14	64453335	64453335	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaatggaagaatctttgaaGgtatgtgtgtaaaagtatta	15	14	10	2	0	2	2	1	1	1	1	2	3	2	3	0	2	0	3	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64453335G>T	ENST00000358025.3	+	19	2543	c.2313G>T	c.(2311-2313)aaG>aaT	p.K771N	SYNE2_ENST00000344113.4_Splice_Site_p.K771N|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Splice_Site_p.K771N	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	771					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCTTTGAAGGTATGTGTGT	0.343													T	64453335	G	T	64453335	5	4	364	1	0	0	0	0	0	0	1	0	15543	1014	35	4	2383	4	SYNE2	14	64453335	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300448	64453335	42896205	10582	34084											
SYNE2	23224	broad.mit.edu	37	chr14	64465654	64465654	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatacatacagagatattCttgaacaccacctgcaaaac	17	9	5	10	0	1	3	0	2	1	1	1	4	1	3	2	0	5	1	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64465654C>A	ENST00000357395.3	+	0	3606				SYNE2_ENST00000358025.3_Missense_Mutation_p.L1126I|SYNE2_ENST00000344113.4_Missense_Mutation_p.L1126I|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1126I			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2						centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGATATTCTTGAACACCA	0.393													A	64465654	C	A	64465654	1	1	364	1	0	0	0	0	0	0	0	0	15543	913	32	4		4	SYNE2	14	64465654	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12319	64465654	42883886	10583	34085											
SYNE2	23224	broad.mit.edu	37	chr14	64469558	64469558	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgcagaatattatactgAaatacaaaacacaatttgaa	21	10	4	6	0	0	3	0	2	0	1	0	3	0	3	0	0	4	1	0	0	11	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64469558A>T	ENST00000358025.3	+	30	4137	c.3907A>T	c.(3907-3909)Aaa>Taa	p.K1303*	SYNE2_ENST00000344113.4_Nonsense_Mutation_p.K1303*|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Nonsense_Mutation_p.K1303*	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TATTATACTGAAATACAAAAC	0.388													T	64469558	A	T	64469558	4	4	364	1	0	0	0	0	0	1	0	0	15543	247	9	5	4021	5	SYNE2	14	64469558	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3904	64469558	42879982	10584	34086											
SYNE2	23224	broad.mit.edu	37	chr14	64473928	64473928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagaataccaaagcctTggtcaccgaatggtaaggaa	14	7	13	7	1	1	1	1	0	0	1	1	4	1	2	3	4	2	1	3	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64473928T>C	ENST00000358025.3	+	31	4795	c.4565T>C	c.(4564-4566)tTg>tCg	p.L1522S	SYNE2_ENST00000344113.4_Missense_Mutation_p.L1522S|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Missense_Mutation_p.L1522S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	1522					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ACCAAAGCCTTGGTCACCGAA	0.378													C	64473928	T	C	64473928	3	2	364	1	0	0	0	0	1	0	0	0	15543	1821	63	3	4683	3	SYNE2	14	64473928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4370	64473928	42875612	10585	34087											
SYNE2	23224	broad.mit.edu	37	chr14	64497763	64497763	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagactcagtttacaagaTggcacattaaagaagatttt	17	12	7	5	0	1	4	1	0	0	4	1	4	1	4	0	1	1	2	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64497763T>C	ENST00000358025.3	+	45	7139	c.6909T>C	c.(6907-6909)gaT>gaC	p.D2303D	SYNE2_ENST00000344113.4_Silent_p.D2303D|SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000554584.1_Silent_p.D2303D	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	2303					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTTACAAGATGGCACATTAA	0.328													C	64497763	T	C	64497763	2	2	364	1	0	0	0	0	0	0	0	1	15543	1461	51	3		3	SYNE2	14	64497763	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23835	64497763	42851777	10586	34088											
SYNE2	23224	broad.mit.edu	37	chr14	64591874	64591874	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaactgaagaactgaaaacCtataccacccaacttgaaga	19	6	5	11	0	0	5	0	3	0	2	0	5	0	5	3	0	5	0	3	0	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64591874C>A	ENST00000357395.3	+	72	13799	c.2655C>A	c.(2653-2655)acC>acA	p.T885T	SYNE2_ENST00000358025.3_Silent_p.T4500T|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.T4500T|SYNE2_ENST00000555002.1_Silent_p.T1134T|SYNE2_ENST00000554584.1_Silent_p.T4451T|SYNE2_ENST00000394768.2_Silent_p.T885T			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4500					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACTGAAAACCTATACCACCC	0.398													A	64591874	C	A	64591874	2	1	364	1	0	0	0	0	0	0	0	1	15543	668	24	4		4	SYNE2	14	64591874	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94111	64591874	42757666	10587	34089											
SYNE2	23224	broad.mit.edu	37	chr14	64596583	64596583	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaggggagaggcttcatttAccttatgctttactccagga	10	12	11	8	0	1	1	1	0	0	1	2	4	2	2	2	4	3	2	2	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64596583A>G	ENST00000357395.3	+	76	14402	c.3258A>G	c.(3256-3258)ttA>ttG	p.L1086L	SYNE2_ENST00000358025.3_Silent_p.L4701L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Silent_p.L4701L|SYNE2_ENST00000555002.1_Silent_p.L1335L|SYNE2_ENST00000554584.1_Silent_p.L4618L|SYNE2_ENST00000394768.2_Silent_p.L1086L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4701					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCTTCATTTACCTTATGCTT	0.458													G	64596583	A	G	64596583	2	3	364	1	0	0	0	0	0	0	0	1	15543	388	14	3		3	SYNE2	14	64596583	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4709	64596583	42752957	10588	34090											
SYNE2	23224	broad.mit.edu	37	chr14	64606673	64606673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttagttataacagagattCggatcagttaaccaagtggt	13	13	10	5	1	1	1	1	0	0	1	2	3	1	2	1	2	2	3	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64606673C>T	ENST00000357395.3	+	81	15157	c.4013C>T	c.(4012-4014)tCg>tTg	p.S1338L	SYNE2_ENST00000358025.3_Missense_Mutation_p.S4953L|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.S4953L|SYNE2_ENST00000555002.1_Missense_Mutation_p.S1587L|SYNE2_ENST00000554584.1_Missense_Mutation_p.S4870L|SYNE2_ENST00000394768.2_Missense_Mutation_p.S1338L			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	4953					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding	p.S4953L(1)		NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AACAGAGATTCGGATCAGTTA	0.378													T	64606673	C	T	64606673	3	4	364	1	0	0	0	0	1	0	0	0	15543	893	31	1	15172	1	SYNE2	14	64606673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10090	64606673	42742867	10589	34091											
SYNE2	23224	broad.mit.edu	37	chr14	64608684	64608684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatggagaaattgccgtctCgtaaagcaatcacagaaatg	17	8	9	7	2	2	2	1	0	1	2	3	3	2	2	1	1	2	2	1	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64608684C>T	ENST00000357395.3	+	83	15483	c.4339C>T	c.(4339-4341)Cgt>Tgt	p.R1447C	SYNE2_ENST00000358025.3_Missense_Mutation_p.R5062C|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.R5062C|SYNE2_ENST00000555002.1_Missense_Mutation_p.R1696C|SYNE2_ENST00000554584.1_Missense_Mutation_p.R4979C|SYNE2_ENST00000394768.2_Missense_Mutation_p.R1447C			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5062					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		ATTGCCGTCTCGTAAAGCAAT	0.373													T	64608684	C	T	64608684	3	4	364	1	0	0	0	0	1	0	0	0	15543	884	31	1	15506	1	SYNE2	14	64608684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2011	64608684	42740856	10590	34092											
SYNE2	23224	broad.mit.edu	37	chr14	64619315	64619315	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacttgcaattaaatccaaaGcactagatgagttgaaacaa	19	9	6	7	0	0	3	0	2	0	1	1	3	1	3	1	0	4	3	1	0	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64619315G>T	ENST00000357395.3	+	86	15972	c.4828G>T	c.(4828-4830)Gca>Tca	p.A1610S	SYNE2_ENST00000358025.3_Missense_Mutation_p.A5225S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5225S|SYNE2_ENST00000555002.1_Missense_Mutation_p.A1859S|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5142S|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1610S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5225					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TAAATCCAAAGCACTAGATGA	0.353													T	64619315	G	T	64619315	3	4	364	1	0	0	0	0	1	0	0	0	15543	971	34	4	16007	4	SYNE2	14	64619315	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10631	64619315	42730225	10591	34093											
SYNE2	23224	broad.mit.edu	37	chr14	64630256	64630256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactctctccagagggctgCttatttggaaaagatgctgc	9	11	11	10	0	1	2	0	0	1	2	3	3	2	3	1	2	3	4	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64630256C>T	ENST00000357395.3	+	90	16735	c.5591C>T	c.(5590-5592)gCt>gTt	p.A1864V	SYNE2_ENST00000358025.3_Missense_Mutation_p.A5479V|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000344113.4_Missense_Mutation_p.A5479V|SYNE2_ENST00000555002.1_Missense_Mutation_p.A2113V|SYNE2_ENST00000554584.1_Missense_Mutation_p.A5396V|SYNE2_ENST00000394768.2_Missense_Mutation_p.A1864V			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5479					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CAGAGGGCTGCTTATTTGGAA	0.473													T	64630256	C	T	64630256	3	4	364	1	0	0	0	0	1	0	0	0	15543	797	28	2	16786	2	SYNE2	14	64630256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10941	64630256	42719284	10592	34094											
ESR2	2100	broad.mit.edu	37	chr14	64700034	64700034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgagcagatgttccatgcCcttgttactatggggacaaa	10	12	11	8	0	0	2	0	1	0	1	1	3	1	3	2	2	3	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64700034C>T	ENST00000341099.4	-	9	1831	c.1414G>A	c.(1414-1416)Ggc>Agc	p.G472S	ESR2_ENST00000555278.1_Intron|ESR2_ENST00000557772.1_3'UTR|ESR2_ENST00000267525.6_Missense_Mutation_p.G381S|ESR2_ENST00000542956.1_Intron|ESR2_ENST00000555483.1_5'UTR|ESR2_ENST00000554572.1_Intron|ESR2_ENST00000358599.5_Intron|ESR2_ENST00000553796.1_Intron|ESR2_ENST00000357782.2_Intron|ESR2_ENST00000353772.3_Intron	NM_001437.2	NP_001428.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	472	Steroid-binding.				cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	TGTTCCATGCCCTTGTTACTA	0.552													T	64700034	C	T	64700034	3	4	364	1	0	0	0	0	1	0	0	0	5298	623	22	2	268	2	ESR2	14	64700034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69778	64700034	42649506	10593	34095											
MTHFD1	4522	broad.mit.edu	37	chr14	64879239	64879239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaagaacaaccacagaatCtgaggtgagcttttatgagt	15	9	9	8	0	1	5	0	3	1	2	1	5	1	5	2	1	3	1	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64879239C>T	ENST00000545908.1	+	4	633	c.404C>T	c.(403-405)tCt>tTt	p.S135F	MTHFD1_ENST00000216605.8_Missense_Mutation_p.S79F			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	79	Methylenetetrahydrofolate dehydrogenase and cyclohydrolase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACCACAGAATCTGAGGTGAGC	0.423													T	64879239	C	T	64879239	3	4	364	1	0	0	0	0	1	0	0	0	10003	913	32	2	250	2	MTHFD1	14	64879239	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179205	64879239	42470301	10594	34096											
MTHFD1	4522	broad.mit.edu	37	chr14	64916229	64916229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacatggggcttttgatgcCgtgaagtgcactcactgggc	8	10	14	9	1	1	2	1	2	0	0	1	3	1	2	1	3	3	2	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64916229C>T	ENST00000545908.1	+	24	2743	c.2514C>T	c.(2512-2514)gcC>gcT	p.A838A	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_3'UTR|ZBTB25_ENST00000555220.1_3'UTR|MTHFD1_ENST00000216605.8_Silent_p.A782A			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	782	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CTTTTGATGCCGTGAAGTGCA	0.547													T	64916229	C	T	64916229	2	4	364	1	0	0	0	0	0	0	0	1	10003	639	23	1		1	MTHFD1	14	64916229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36990	64916229	42433311	10595	34097											
MTHFD1	4522	broad.mit.edu	37	chr14	64920503	64920503	+	Missense_Mutation	SNP	C	C	T																															ggataaaatcaggatcattgCacagaagatctatggagcag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920503C>T	ENST00000545908.1	+	25	2886	c.2657C>T	c.(2656-2658)gCa>gTa	p.A886V	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.8_Missense_Mutation_p.A830V			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	830	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	AGGATCATTGCACAGAAGATC	0.438													T	64920503	C	T	64920503	3	4	364	1	0	0	0	0	1	0	0	0	10003	710	25	2	2587	2	MTHFD1	14	64920503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4274	64920503	42429037	10596	34098	96	2									
MTHFD1	4522	broad.mit.edu	37	chr14	64920513	64920513	+	Silent	SNP	C	C	T																															aggatcattgcacagaagatCtatggagcagatgacattga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64920513C>T	ENST00000545908.1	+	25	2896	c.2667C>T	c.(2665-2667)atC>atT	p.I889I	MTHFD1_ENST00000556284.1_3'UTR|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron|MTHFD1_ENST00000216605.8_Silent_p.I833I			P11586	C1TC_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1, methenyltetrahydrofolate cyclohydrolase, formyltetrahydrofolate synthetase	833	Formyltetrahydrofolate synthetase.				folic acid metabolic process|folic acid-containing compound biosynthetic process|histidine biosynthetic process|methionine biosynthetic process|one-carbon metabolic process|purine nucleotide biosynthetic process	cytosol|mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|methenyltetrahydrofolate cyclohydrolase activity|methylenetetrahydrofolate dehydrogenase|methylenetetrahydrofolate dehydrogenase (NADP+) activity|protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	30				OV - Ovarian serous cystadenocarcinoma(108;8.7e-12)|all cancers(60;3.29e-11)|BRCA - Breast invasive adenocarcinoma(234;0.0488)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	CACAGAAGATCTATGGAGCAG	0.428													T	64920513	C	T	64920513	2	4	364	1	0	0	0	0	0	0	0	1	10003	903	32	2		2	MTHFD1	14	64920513	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10	64920513	42429027	10597	34099	96	2									
AKAP5	9495	broad.mit.edu	37	chr14	64936301	64936301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcttaattgaaacagccTcttctctagtcaagaatgct	12	13	5	11	0	4	2	1	1	3	1	5	2	4	2	1	0	3	1	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:64936301T>C	ENST00000394718.4	+	2	1567	c.1189T>C	c.(1189-1191)Tct>Cct	p.S397P	AKAP5_ENST00000320636.5_Missense_Mutation_p.S397P|ZBTB25_ENST00000555424.1_Intron|ZBTB25_ENST00000555220.1_Intron	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5		PKA-RII subunit binding domain.				energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		TGAAACAGCCTCTTCTCTAGT	0.338													C	64936301	T	C	64936301	3	2	364	1	0	0	0	0	1	0	0	0	454	1551	54	3	1191	3	AKAP5	14	64936301	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15788	64936301	42413239	10598	34100											
HSPA2	3306	broad.mit.edu	37	chr14	65008248	65008248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgaagtccacggccggCgacacccacctgggcggtga	8	4	16	13	4	0	2	0	2	0	0	1	4	1	2	4	5	0	0	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65008248C>T	ENST00000247207.6	+	1	1063	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA2_ENST00000394709.1_Silent_p.G227G|HSPA2_ENST00000554883.1_3'UTR	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	227					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CCACGGCCGGCGACACCCACC	0.602													T	65008248	C	T	65008248	2	4	364	1	0	0	0	0	0	0	0	1	7468	755	27	1		1	HSPA2	14	65008248	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71947	65008248	42341292	10599	34101											
PLEKHG3	26030	broad.mit.edu	37	chr14	65197870	65197870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgaagaggaggcatgagCacgcggtccggctccaggtg	10	5	16	10	3	0	3	0	2	0	1	2	4	2	4	2	5	1	3	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65197870C>T	ENST00000247226.7	+	5	972	c.664C>T	c.(664-666)Cac>Tac	p.H222Y	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.H278Y	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	278	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GAGGCATGAGCACGCGGTCCG	0.622													T	65197870	C	T	65197870	3	4	364	1	0	0	0	0	1	0	0	0	12147	710	25	2	678	2	PLEKHG3	14	65197870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189622	65197870	42151670	10600	34102											
PLEKHG3	26030	broad.mit.edu	37	chr14	65207966	65207966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccttaaggccctgagcagCgaggaggaagaagaaatggg	14	4	16	7	1	0	3	0	1	0	2	0	7	0	5	2	4	2	1	2	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65207966C>T	ENST00000247226.7	+	14	1871	c.1563C>T	c.(1561-1563)agC>agT	p.S521S	PLEKHG3_ENST00000394691.1_Silent_p.S577S|PLEKHG3_ENST00000471182.2_Silent_p.S110S|PLEKHG3_ENST00000484731.2_Silent_p.S82S	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	577					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		CCCTGAGCAGCGAGGAGGAAG	0.617													T	65207966	C	T	65207966	2	4	364	1	0	0	0	0	0	0	0	1	12147	767	27	1		1	PLEKHG3	14	65207966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10096	65207966	42141574	10601	34103											
PLEKHG3	26030	broad.mit.edu	37	chr14	65209908	65209908	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccttcagctggcccgaCgtccgtgagctctgctccaa	7	8	11	15	3	2	2	1	1	1	1	4	4	4	2	4	1	3	3	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65209908C>T	ENST00000247226.7	+	15	3287	c.2979C>T	c.(2977-2979)gaC>gaT	p.D993D	PLEKHG3_ENST00000394691.1_Silent_p.D1049D|PLEKHG3_ENST00000471182.2_Silent_p.D582D|PLEKHG3_ENST00000492928.1_Intron|PLEKHG3_ENST00000484731.2_Silent_p.D554D	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	1049					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GCTGGCCCGACGTCCGTGAGC	0.721													T	65209908	C	T	65209908	2	4	364	1	0	0	0	0	0	0	0	1	12147	535	19	1		1	PLEKHG3	14	65209908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1942	65209908	42139632	10602	34104											
SPTB	6710	broad.mit.edu	37	chr14	65240029	65240029	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggtcgtcggtctcccgcTtgagctggaacaggtggtac	6	9	14	12	3	1	1	0	1	1	0	4	2	1	2	2	5	3	3	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65240029T>G	ENST00000389722.3	-	24	5140	c.5087A>C	c.(5086-5088)aAg>aCg	p.K1696T	SPTB_ENST00000389720.3_Missense_Mutation_p.K1696T|SPTB_ENST00000556626.1_Missense_Mutation_p.K1696T|SPTB_ENST00000542895.1_Missense_Mutation_p.K1696T|SPTB_ENST00000389721.5_Missense_Mutation_p.K1696T	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1696					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGTCTCCCGCTTGAGCTGGAA	0.572													G	65240029	T	G	65240029	3	3	364	1	0	0	0	0	1	0	0	0	15214	1609	56	5	2016	5	SPTB	14	65240029	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30121	65240029	42109511	10603	34105											
SPTB	6710	broad.mit.edu	37	chr14	65263287	65263287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcattacctgggccacgagGcgctggttttcactgagcca	7	10	11	13	2	2	1	2	1	0	0	2	2	2	1	3	3	2	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65263287G>A	ENST00000389722.3	-	10	1382	c.1329C>T	c.(1327-1329)cgC>cgT	p.R443R	SPTB_ENST00000389720.3_Silent_p.R443R|SPTB_ENST00000556626.1_Silent_p.R443R|SPTB_ENST00000542895.1_Silent_p.R443R|SPTB_ENST00000389721.5_Silent_p.R443R	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	443					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		GGGCCACGAGGCGCTGGTTTT	0.587													A	65263287	G	A	65263287	2	1	364	1	0	0	0	0	0	0	0	1	15214	1190	42	2		2	SPTB	14	65263287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23258	65263287	42086253	10604	34106											
SPTB	6710	broad.mit.edu	37	chr14	65264467	65264467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttgatgtcagacactaGtttcccatcgtggggtgtgt	6	14	12	9	1	1	2	1	1	0	1	3	2	2	2	2	2	0	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65264467G>T	ENST00000389722.3	-	9	1215	c.1162C>A	c.(1162-1164)Cta>Ata	p.L388I	SPTB_ENST00000389720.3_Missense_Mutation_p.L388I|SPTB_ENST00000556626.1_Missense_Mutation_p.L388I|SPTB_ENST00000542895.1_Missense_Mutation_p.L388I|SPTB_ENST00000389721.5_Missense_Mutation_p.L388I	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	388					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TCAGACACTAGTTTCCCATCG	0.453													T	65264467	G	T	65264467	3	4	364	1	0	0	0	0	1	0	0	0	15214	1020	36	4	6001	4	SPTB	14	65264467	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1180	65264467	42085073	10605	34107											
CHURC1	91612	broad.mit.edu	37	chr14	65381186	65381186	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtcttcccggaagcgttgGaggacattccctgttgactg	6	12	12	11	3	1	1	0	1	1	0	4	4	3	4	2	3	1	2	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65381186G>A	ENST00000607599.1	+	1	108	c.54G>A	c.(52-54)tgG>tgA	p.W18*	CHURC1_ENST00000548752.2_Nonsense_Mutation_p.W18*|CHURC1_ENST00000549115.1_Nonsense_Mutation_p.W18*|CHURC1_ENST00000359118.2_5'UTR|CHURC1_ENST00000552002.2_5'UTR	NM_001204063.1|NM_145165.3	NP_001190992.1|NP_660148.3			churchill domain containing 1											breast(1)|pancreas(1)	2				all cancers(60;0.00119)|OV - Ovarian serous cystadenocarcinoma(108;0.0056)|BRCA - Breast invasive adenocarcinoma(234;0.00976)		GGAAGCGTTGGAGGACATTCC	0.622													A	65381186	G	A	65381186	4	1	364	1	0	0	0	0	0	1	0	0	3447	1189	41	2		2	CHURC1	14	65381186	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116719	65381186	41968354	10606	34108											
MAX	4149	broad.mit.edu	37	chr14	65472930	65472930	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactttttctgattagccatGgcagaaaacagttggaaaag	15	11	9	6	0	1	2	0	1	1	1	1	3	1	3	1	2	3	2	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:65472930G>T	ENST00000341653.2	-	4	291	c.244C>A	c.(244-246)Cat>Aat	p.H82N	FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron|FNTB_ENST00000555742.1_Intron|FNTB_ENST00000246166.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_197957.3	NP_932061.1	P61244	MAX_HUMAN	MYC associated factor X	0	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTAGCCATGGCAGAAAACA	0.368													T	65472930	G	T	65472930	3	4	364	1	0	0	0	0	1	0	0	0	9414	1348	47	4	11	4	MAX	14	65472930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91744	65472930	41876610	10607	34109											
FUT8	2530	broad.mit.edu	37	chr14	66028381	66028381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacttggtacgagataatGaccatcctgatcactctagc	11	11	8	11	1	3	3	2	2	1	1	4	4	4	3	2	1	2	1	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:66028381G>A	ENST00000360689.5	+	3	1827	c.100G>A	c.(100-102)Gac>Aac	p.D34N	FUT8_ENST00000358307.2_Intron|FUT8_ENST00000394586.2_Missense_Mutation_p.D34N|FUT8_ENST00000394585.1_Missense_Mutation_p.D34N|FUT8_ENST00000557164.1_Intron	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	34					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACGAGATAATGACCATCCTGA	0.468													A	66028381	G	A	66028381	3	1	364	1	0	0	0	0	1	0	0	0	6162	1290	45	2	102	2	FUT8	14	66028381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	555451	66028381	41321159	10608	34110											
GPHN	10243	broad.mit.edu	37	chr14	67382747	67382747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggaatcagagggaaaacGctcataattaacctgccagg	14	8	11	8	1	2	1	2	0	0	1	2	3	2	3	2	3	3	1	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67382747G>A	ENST00000478722.1	+	6	1538	c.417G>A	c.(415-417)acG>acA	p.T139T	GPHN_ENST00000459628.1_Silent_p.T121T|GPHN_ENST00000315266.5_Silent_p.T139T|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.T108T|GPHN_ENST00000543237.1_Silent_p.T152T	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	139	MPT Mo-transferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		GAGGGAAAACGCTCATAATTA	0.378			T	MLL	AL								A	67382747	G	A	67382747	2	1	364	1	0	0	0	0	0	0	0	1	6664	1074	38	1		1	GPHN	14	67382747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1354366	67382747	39966793	10609	34111											
GPHN	10243	broad.mit.edu	37	chr14	67579789	67579789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttggccaaaggaacccaCatgggcccctcagagattgg	10	8	12	11	0	1	1	1	0	0	1	1	3	1	2	4	4	1	1	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67579789C>T	ENST00000478722.1	+	16	2648	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	GPHN_ENST00000315266.5_Silent_p.H476H|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Silent_p.H445H|GPHN_ENST00000543237.1_Silent_p.H522H	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	476	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		AAGGAACCCACATGGGCCCCT	0.463			T	MLL	AL								T	67579789	C	T	67579789	2	4	364	1	0	0	0	0	0	0	0	1	6664	477	17	2		2	GPHN	14	67579789	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197042	67579789	39769751	10610	34112											
GPHN	10243	broad.mit.edu	37	chr14	67646313	67646313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttatcatgtgatgtaaaaCttgatcctcgtccagaatac	13	13	7	8	1	1	3	1	2	0	1	4	3	3	3	2	0	2	2	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:67646313C>T	ENST00000478722.1	+	22	3219	c.2098C>T	c.(2098-2100)Ctt>Ttt	p.L700F	GPHN_ENST00000315266.5_Missense_Mutation_p.L667F|GPHN_ENST00000544752.2_3'UTR|GPHN_ENST00000305960.9_Missense_Mutation_p.L636F|GPHN_ENST00000543237.1_Missense_Mutation_p.L713F	NM_020806.4	NP_065857.1	Q9NQX3	GEPH_HUMAN	gephyrin	667	MPT adenylyltransferase.				Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cell junction|cytoplasm|cytoskeleton|postsynaptic membrane	ATP binding|metal ion binding|nucleotidyltransferase activity			large_intestine(8)|liver(1)|ovary(2)|stomach(1)	12		all_cancers(7;0.0476)|all_hematologic(31;0.0116)		Epithelial(1;1.73e-08)|all cancers(60;3.15e-07)|OV - Ovarian serous cystadenocarcinoma(108;0.000275)|BRCA - Breast invasive adenocarcinoma(234;0.00323)|Colorectal(3;0.0938)|KIRC - Kidney renal clear cell carcinoma(182;0.184)		TGATGTAAAACTTGATCCTCG	0.393			T	MLL	AL								T	67646313	C	T	67646313	3	4	364	1	0	0	0	0	1	0	0	0	6664	565	20	2	2184	2	GPHN	14	67646313	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66524	67646313	39703227	10611	34113											
PLEKHH1	57475	broad.mit.edu	37	chr14	68042713	68042713	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctcctcattggcaccaaGcatgaaaaggtaaggaagag	15	7	10	9	0	1	2	1	1	0	1	2	3	2	3	3	3	2	3	3	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68042713G>A	ENST00000329153.5	+	16	2475	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K		NM_020715.2	NP_065766.1	Q9ULM0	PKHH1_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 1	781	PH 2.					cytoskeleton	binding			endometrium(2)|kidney(4)|lung(12)|urinary_tract(1)	19				all cancers(60;0.000771)|OV - Ovarian serous cystadenocarcinoma(108;0.00502)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTGGCACCAAGCATGAAAAGG	0.547													A	68042713	G	A	68042713	2	1	364	1	0	0	0	0	0	0	0	1	12153	962	34	2		2	PLEKHH1	14	68042713	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	396400	68042713	39306827	10612	34114											
ARG2	384	broad.mit.edu	37	chr14	68112518	68112518	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcagagaactacaggataAggtcagtgggccaaaacgaa	16	5	11	9	1	2	1	2	0	0	1	2	4	2	2	2	3	3	0	2	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68112518A>C	ENST00000261783.3	+	4	701	c.521A>C	c.(520-522)aAg>aCg	p.K174T	ARG2_ENST00000556491.1_Intron	NM_001172.3	NP_001163.1	P78540	ARGI2_HUMAN	arginase 2	174					arginine metabolic process|nitric oxide biosynthetic process|urea cycle	mitochondrial matrix	arginase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|ovary(1)|prostate(1)	11				all cancers(60;0.000582)|OV - Ovarian serous cystadenocarcinoma(108;0.00392)|BRCA - Breast invasive adenocarcinoma(234;0.00928)	L-Arginine(DB00125)|L-Ornithine(DB00129)	CTACAGGATAAGGTCAGTGGG	0.468													C	68112518	A	C	68112518	5	2	364	1	0	0	0	0	0	0	1	0	861	86	3	5	535	5	ARG2	14	68112518	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69805	68112518	39237022	10613	34115											
VTI1B	10490	broad.mit.edu	37	chr14	68118192	68118192	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcagcagcttgttggtTgtcactctacaaagagaagc	13	9	11	8	0	2	1	1	0	1	1	2	3	2	1	0	1	5	5	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68118192T>C	ENST00000554659.1	-	6	950	c.609A>G	c.(607-609)acA>acG	p.T203T	ARG2_ENST00000261783.3_3'UTR	NM_006370.2	NP_006361.1	Q9UEU0	VTI1B_HUMAN	vesicle transport through interaction with t-SNAREs 1B	203					cell proliferation|cellular membrane fusion|intracellular protein transport|vesicle docking involved in exocytosis	endomembrane system|integral to membrane				endometrium(1)|large_intestine(2)|stomach(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.000344)|OV - Ovarian serous cystadenocarcinoma(108;0.00212)|BRCA - Breast invasive adenocarcinoma(234;0.00941)		GCTTGTTGGTTGTCACTCTAC	0.458													C	68118192	T	C	68118192	2	2	364	1	0	0	0	0	0	0	0	1	17338	1799	63	3		3	VTI1B	14	68118192	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5674	68118192	39231348	10614	34116											
ZFYVE26	23503	broad.mit.edu	37	chr14	68222729	68222729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttctgtaaatgttggcagGcagcaatcaagtactttccc	10	13	8	10	0	3	0	1	0	2	0	4	0	4	0	1	2	2	6	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68222729G>A	ENST00000347230.4	-	36	6860	c.6722C>T	c.(6721-6723)gCc>gTc	p.A2241V	ZFYVE26_ENST00000557306.1_Missense_Mutation_p.A87V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	2241					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		ATGTTGGCAGGCAGCAATCAA	0.453													A	68222729	G	A	68222729	3	1	364	1	0	0	0	0	1	0	0	0	17769	1203	42	2	925	2	ZFYVE26	14	68222729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104537	68222729	39126811	10615	34117											
ZFYVE26	23503	broad.mit.edu	37	chr14	68251862	68251862	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagtagtccatctgcctgCtgcctgatggggtctgtttg	5	13	12	11	0	2	1	0	1	2	0	3	1	3	1	4	2	3	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68251862C>A	ENST00000347230.4	-	19	3575	c.3437G>T	c.(3436-3438)aGc>aTc	p.S1146I	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1146I	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1146					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CATCTGCCTGCTGCCTGATGG	0.562													A	68251862	C	A	68251862	3	1	364	1	0	0	0	0	1	0	0	0	17769	797	28	4	4278	4	ZFYVE26	14	68251862	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29133	68251862	39097678	10616	34118											
ZFYVE26	23503	broad.mit.edu	37	chr14	68252589	68252589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacctggcagctctagtGcctctctcagtgactgaagg	8	12	10	11	0	3	2	1	2	2	0	4	2	3	2	2	2	3	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68252589G>A	ENST00000347230.4	-	18	3428	c.3290C>T	c.(3289-3291)gCa>gTa	p.A1097V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A1097V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1097					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		CAGCTCTAGTGCCTCTCTCAG	0.542													A	68252589	G	A	68252589	3	1	364	1	0	0	0	0	1	0	0	0	17769	1319	46	2	4429	2	ZFYVE26	14	68252589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	727	68252589	39096951	10617	34119											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274397	68274397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcagggccctgcaaagcccGcaatgcctttcgaatgaggt	10	8	11	12	2	1	1	1	1	0	0	2	2	1	1	3	2	3	2	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:68274397G>A	ENST00000347230.4	-	5	742	c.604C>T	c.(604-606)Cgg>Tgg	p.R202W	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.R202W	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	202					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		TGCAAAGCCCGCAATGCCTTT	0.612													A	68274397	G	A	68274397	3	1	364	1	0	0	0	0	1	0	0	0	17769	1086	38	1	7167	1	ZFYVE26	14	68274397	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21808	68274397	39075143	10618	34120											
ZFP36L1	677	broad.mit.edu	37	chr14	69256767	69256768	+	Frame_Shift_Ins	INS	-	-	A																															gcagcggggcccgtaggggcINSaaaagccgatggtgtggaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69256767_69256768insA	ENST00000439696.2	-	2	800_801	c.499_500insT	c.(499-501)tgcfs	p.C167fs	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Frame_Shift_Ins_p.C167fs	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	167					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.C167fs*66(1)		breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		CCCGTAGGGGCAAAAGCCGATG	0.678											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	69256768	-	A	69256767	7	5	364	1	0	1	1	0	0	0	0	0	17747	710	25	0	520	0	ZFP36L1	14	69256767	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	982370	69256767	38092773	10619	34121											
ZFP36L1	677	broad.mit.edu	37	chr14	69262515	69262515	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtcgggttgaaacgtcatTtcggggactttccaagggtg	7	13	14	7	3	1	1	1	1	0	0	4	2	2	2	1	4	1	1	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69262515T>G	ENST00000408913.2	-	1	675	c.497A>C	c.(496-498)aAa>aCa	p.K166T				Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	0					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		GAAACGTCATTTCGGGGACTT	0.592													G	69262515	T	G	69262515	3	3	364	1	0	0	0	0	1	0	0	0	17747	1841	64	5		5	ZFP36L1	14	69262515	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5748	69262515	38087025	10620	34122											
ACTN1	87	broad.mit.edu	37	chr14	69387793	69387793	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccttgttgacgttggaGatcttgtgcactctcatctt	6	15	11	9	1	3	2	1	1	3	1	4	3	3	2	1	2	1	3	1	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69387793G>T	ENST00000193403.6	-	3	653	c.270C>A	c.(268-270)atC>atA	p.I90I	ACTN1_ENST00000438964.2_Silent_p.I90I|ACTN1_ENST00000376839.3_Silent_p.I25I|ACTN1_ENST00000394419.4_Silent_p.I90I|ACTN1_ENST00000538545.2_Silent_p.I90I	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	90	Actin-binding.|CH 1.				focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		TGACGTTGGAGATCTTGTGCA	0.562													T	69387793	G	T	69387793	2	4	364	1	0	0	0	0	0	0	0	1	204	932	33	4		4	ACTN1	14	69387793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125278	69387793	37961747	10621	34123											
SLC39A9	55334	broad.mit.edu	37	chr14	69908877	69908877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaacatgagcacagccaCgaccacacacagctgcatgc	14	4	8	15	1	0	2	0	2	0	0	0	3	0	2	2	0	6	3	2	0	1	0	rs150425244		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908877C>T	ENST00000336643.5	+	3	975	c.297C>T	c.(295-297)caC>caT	p.H99H	SLC39A9_ENST00000557046.1_Silent_p.H99H|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Silent_p.H99H	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	99					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		AGCACAGCCACGACCACACAC	0.463													T	69908877	C	T	69908877	2	4	364	1	0	0	0	0	0	0	0	1	14719	535	19	1		1	SLC39A9	14	69908877	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	521084	69908877	37440663	10622	34124											
SLC39A9	55334	broad.mit.edu	37	chr14	69908929	69908929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctcgttctgggcttcGttttcatgttgctggtggac	2	18	11	10	2	2	0	1	0	1	0	5	1	3	1	1	3	1	5	1	3	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:69908929G>A	ENST00000336643.5	+	3	1027	c.349G>A	c.(349-351)Gtt>Att	p.V117I	SLC39A9_ENST00000557046.1_Missense_Mutation_p.V117I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V117I	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	117					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		TCTGGGCTTCGTTTTCATGTT	0.488													A	69908929	G	A	69908929	3	1	364	1	0	0	0	0	1	0	0	0	14719	1145	40	1	359	1	SLC39A9	14	69908929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	69908929	37440611	10623	34125											
SYNJ2BP	55333	broad.mit.edu	37	chr14	70842480	70842480	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcaggttctttaggtcttgGccatttacctgtcaaaacac	10	13	8	10	0	3	0	1	0	2	0	3	0	3	0	2	3	3	2	2	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:70842480G>T	ENST00000256366.4	-	3	291	c.210C>A	c.(208-210)ggC>ggA	p.G70G	SYNJ2BP_ENST00000554216.1_5'UTR|SYNJ2BP-COX16_ENST00000555276.1_RNA	NM_018373.2	NP_060843.2			synaptojanin 2 binding protein											central_nervous_system(1)|kidney(2)|large_intestine(1)|upper_aerodigestive_tract(1)	5				all cancers(60;0.00367)|BRCA - Breast invasive adenocarcinoma(234;0.00716)|OV - Ovarian serous cystadenocarcinoma(108;0.0377)		TTAGGTCTTGGCCATTTACCT	0.413													T	70842480	G	T	70842480	2	4	364	1	0	0	0	0	0	0	0	1	15551	1190	42	4		4	SYNJ2BP	14	70842480	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	933551	70842480	36507060	10624	34126											
MAP3K9	4293	broad.mit.edu	37	chr14	71199843	71199843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagcagagccacctcgcagCggcggtggtgggcaccgccc	6	3	16	16	5	0	1	0	0	0	1	1	2	0	1	4	4	3	3	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71199843C>T	ENST00000554752.2	-	11	2242	c.2243G>A	c.(2242-2244)cGc>cAc	p.R748H	MAP3K9_ENST00000381250.4_Missense_Mutation_p.R725H|MAP3K9_ENST00000555993.2_Missense_Mutation_p.R762H|MAP3K9_ENST00000553414.1_Missense_Mutation_p.R481H|MAP3K9_ENST00000554146.1_Missense_Mutation_p.R476H	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	748					activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		CACCTCGCAGCGGCGGTGGTG	0.652													T	71199843	C	T	71199843	3	4	364	1	0	0	0	0	1	0	0	0	9332	768	27	1	1079	1	MAP3K9	14	71199843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	357363	71199843	36149697	10625	34127											
MAP3K9	4293	broad.mit.edu	37	chr14	71206852	71206852	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttatccatggtaggggAggcctgcaccgtgaacttgt	7	12	12	10	1	0	1	0	1	0	0	1	2	1	2	4	4	2	2	4	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71206852A>T	ENST00000554752.2	-	7	1596	c.1597T>A	c.(1597-1599)Tcc>Acc	p.S533T	MAP3K9_ENST00000381250.4_Missense_Mutation_p.S533T|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S533T|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S227T|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S270T	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	533				KLKDGNRISLPSDFQHKFTVQASPT -> AQPVLPFPHGHS RCPGGTGSSWGGQ (in Ref. 4).	activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		ATGGTAGGGGAGGCCTGCACC	0.468													T	71206852	A	T	71206852	3	4	364	1	0	0	0	0	1	0	0	0	9332	304	11	5	1787	5	MAP3K9	14	71206852	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7009	71206852	36142688	10626	34128											
PCNX	22990	broad.mit.edu	37	chr14	71500206	71500206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttttgtggtttattagtgGcagtgtcttaccatctcagc	6	19	9	7	0	2	0	1	0	2	0	3	0	2	0	1	2	2	2	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71500206G>A	ENST00000304743.2	+	17	4065	c.3619G>A	c.(3619-3621)Gca>Aca	p.A1207T	PCNX_ENST00000238570.5_Missense_Mutation_p.A1207T|PCNX_ENST00000439984.3_Missense_Mutation_p.A1096T	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1207						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TTTATTAGTGGCAGTGTCTTA	0.348													A	71500206	G	A	71500206	3	1	364	1	0	0	0	0	1	0	0	0	11667	1203	42	2	3685	2	PCNX	14	71500206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	293354	71500206	35849334	10627	34129											
PCNX	22990	broad.mit.edu	37	chr14	71502806	71502806	+	Missense_Mutation	SNP	G	G	A																															agcgattacagtctgacctgGtagtatgcattgtaattggt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502806G>A	ENST00000304743.2	+	19	4245	c.3799G>A	c.(3799-3801)Gta>Ata	p.V1267I	PCNX_ENST00000238570.5_Missense_Mutation_p.V1267I|PCNX_ENST00000439984.3_Missense_Mutation_p.V1156I	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1267						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GTCTGACCTGGTAGTATGCAT	0.323													A	71502806	G	A	71502806	3	1	364	1	0	0	0	0	1	0	0	0	11667	1261	44	2	3873	2	PCNX	14	71502806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2600	71502806	35846734	10628	34130	97	2									
PCNX	22990	broad.mit.edu	37	chr14	71502809	71502809	+	Missense_Mutation	SNP	G	G	T																															gattacagtctgacctggtaGtatgcattgtaattggtgtg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71502809G>T	ENST00000304743.2	+	19	4248	c.3802G>T	c.(3802-3804)Gta>Tta	p.V1268L	PCNX_ENST00000238570.5_Missense_Mutation_p.V1268L|PCNX_ENST00000439984.3_Missense_Mutation_p.V1157L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1268						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		TGACCTGGTAGTATGCATTGT	0.313													T	71502809	G	T	71502809	3	4	364	1	0	0	0	0	1	0	0	0	11667	1029	36	4	3876	4	PCNX	14	71502809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3	71502809	35846731	10629	34131	97	2									
PCNX	22990	broad.mit.edu	37	chr14	71524435	71524435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagctgcggggacttgaaTtcagaggtaagacattcatt	11	12	11	7	1	3	3	3	1	0	2	3	4	3	4	0	3	2	2	0	3	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:71524435T>C	ENST00000304743.2	+	26	5292	c.4846T>C	c.(4846-4848)Ttc>Ctc	p.F1616L	PCNX_ENST00000238570.5_Intron|PCNX_ENST00000439984.3_Missense_Mutation_p.F1505L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1616						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGGACTTGAATTCAGAGGTAA	0.408													C	71524435	T	C	71524435	3	2	364	1	0	0	0	0	1	0	0	0	11667	1493	52	3	4948	3	PCNX	14	71524435	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21626	71524435	35825105	10630	34132											
SIPA1L1	26037	broad.mit.edu	37	chr14	72128039	72128039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttgtagctcctgaggaagCggcacattggaaatgatatc	11	11	11	8	1	1	2	0	2	1	0	3	4	2	4	1	3	2	3	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72128039C>T	ENST00000555818.1	+	7	2458	c.2110C>T	c.(2110-2112)Cgg>Tgg	p.R704W	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.R704W|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.R704W|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.R179W	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	704	Rap-GAP.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CCTGAGGAAGCGGCACATTGG	0.423													T	72128039	C	T	72128039	3	4	364	1	0	0	0	0	1	0	0	0	14423	759	27	1	2132	1	SIPA1L1	14	72128039	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	603604	72128039	35221501	10631	34133											
SIPA1L1	26037	broad.mit.edu	37	chr14	72139292	72139292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgagaacatctgtcacGgtgaaggttgtcatcattcc	9	12	9	11	1	4	2	3	2	1	1	6	3	6	2	2	2	1	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72139292G>A	ENST00000555818.1	+	9	3405	c.3057G>A	c.(3055-3057)acG>acA	p.T1019T	SIPA1L1_ENST00000358550.2_Silent_p.T1019T|SIPA1L1_ENST00000381232.3_Silent_p.T1019T|SIPA1L1_ENST00000537413.1_Silent_p.T494T	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1019	PDZ.				actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CATCTGTCACGGTGAAGGTTG	0.592													A	72139292	G	A	72139292	2	1	364	1	0	0	0	0	0	0	0	1	14423	1103	39	1		1	SIPA1L1	14	72139292	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11253	72139292	35210248	10632	34134											
SIPA1L1	26037	broad.mit.edu	37	chr14	72165699	72165699	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgtattgcacatgcaggCtgtctcctggttcggacatc	6	15	10	10	1	1	0	0	0	1	0	4	1	1	1	1	3	2	5	1	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72165699C>T	ENST00000555818.1	+	11	3724	c.3376C>T	c.(3376-3378)Ctg>Ttg	p.L1126L	SIPA1L1_ENST00000358550.2_Splice_Site_p.L1126L|SIPA1L1_ENST00000381232.3_Splice_Site_p.L1126L|SIPA1L1_ENST00000537413.1_Splice_Site_p.L601L	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1126					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		CACATGCAGGCTGTCTCCTGG	0.428													T	72165699	C	T	72165699	5	4	364	1	0	0	0	0	0	0	1	0	14423	811	28	2	3414	2	SIPA1L1	14	72165699	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26407	72165699	35183841	10633	34135											
SIPA1L1	26037	broad.mit.edu	37	chr14	72196994	72196994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgaggaggccttcttacAccttaggaatgaaatcgctg	10	11	11	9	2	1	2	0	2	1	0	2	4	1	4	2	3	1	2	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:72196994A>G	ENST00000555818.1	+	18	5248	c.4900A>G	c.(4900-4902)Acc>Gcc	p.T1634A	SIPA1L1_ENST00000358550.2_Missense_Mutation_p.T1613A|SIPA1L1_ENST00000381232.3_Missense_Mutation_p.T1613A|SIPA1L1_ENST00000554874.1_3'UTR|SIPA1L1_ENST00000537413.1_Missense_Mutation_p.T1088A	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	1634					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		GCCTTCTTACACCTTAGGAAT	0.567													G	72196994	A	G	72196994	3	3	364	1	0	0	0	0	1	0	0	0	14423	159	6	3	4966	3	SIPA1L1	14	72196994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31295	72196994	35152546	10634	34136											
DPF3	8110	broad.mit.edu	37	chr14	73159848	73159848	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgagcttcatccccCtcctcgctggccaggtgagt	4	12	11	14	1	2	2	1	2	1	0	5	2	4	2	4	3	1	2	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73159848C>A	ENST00000541685.1	-	7	690	c.678G>T	c.(676-678)gaG>gaT	p.E226D	DPF3_ENST00000556509.1_Missense_Mutation_p.E226D|DPF3_ENST00000557704.1_5'UTR|DPF3_ENST00000546183.1_Missense_Mutation_p.E236D	NM_012074.3	NP_036206.3	Q92784	DPF3_HUMAN	D4, zinc and double PHD fingers, family 3	226					chromatin modification|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nBAF complex	nucleic acid binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)	22				BRCA - Breast invasive adenocarcinoma(234;0.00649)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CTTCATCCCCCTCCTCGCTGG	0.552													A	73159848	C	A	73159848	3	1	364	1	0	0	0	0	1	0	0	0	4757	680	24	4	407	4	DPF3	14	73159848	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	962854	73159848	34189692	10635	34137											
ZFYVE1	53349	broad.mit.edu	37	chr14	73441590	73441590	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttgatgaacagctgtcAcagaagccctccccacaggc	10	8	9	14	0	2	3	1	2	1	1	3	3	3	3	3	1	3	1	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73441590A>G	ENST00000556143.1	-	10	2604	c.1884T>C	c.(1882-1884)tgT>tgC	p.C628C	ZFYVE1_ENST00000553891.1_Silent_p.C628C|ZFYVE1_ENST00000555072.1_Silent_p.C213C|ZFYVE1_ENST00000318876.5_Silent_p.C614C|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000394207.2_Silent_p.C213C	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	628						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AACAGCTGTCACAGAAGCCCT	0.567													G	73441590	A	G	73441590	2	3	364	1	0	0	0	0	0	0	0	1	17764	157	6	3		3	ZFYVE1	14	73441590	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	281742	73441590	33907950	10636	34138											
ZFYVE1	53349	broad.mit.edu	37	chr14	73442413	73442413	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcagcattgttgttgtccTtcagaaacccatcagtctga	9	12	10	10	0	3	2	2	1	1	1	4	2	4	2	2	1	2	4	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73442413T>G	ENST00000556143.1	-	9	2372	c.1652A>C	c.(1651-1653)aAg>aCg	p.K551T	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.K551T|ZFYVE1_ENST00000555072.1_Missense_Mutation_p.K136T|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.K537T|ZFYVE1_ENST00000554145.1_5'UTR|ZFYVE1_ENST00000394207.2_Missense_Mutation_p.K136T	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	551						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		GTTGTTGTCCTTCAGAAACCC	0.527													G	73442413	T	G	73442413	3	3	364	1	0	0	0	0	1	0	0	0	17764	1609	56	5	697	5	ZFYVE1	14	73442413	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	823	73442413	33907127	10637	34139											
RBM25	58517	broad.mit.edu	37	chr14	73577639	73577639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagaagaaaaacgagAagaacccatggaagaggaag	24	1	12	4	1	0	6	0	0	0	6	0	9	0	8	1	2	2	0	1	2	9	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73577639A>G	ENST00000261973.7	+	15	2078	c.1793A>G	c.(1792-1794)gAa>gGa	p.E598G	RBM25_ENST00000527432.1_Missense_Mutation_p.E598G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	598	Glu-rich.|Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		gaaaaacgagaagaaCCCATG	0.493													G	73577639	A	G	73577639	3	3	364	1	0	0	0	0	1	0	0	0	13213	246	9	3	1847	3	RBM25	14	73577639	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	135226	73577639	33771901	10638	34140											
RBM25	58517	broad.mit.edu	37	chr14	73578420	73578420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaacactgaagaaaaGcgtaaacacattaagagtct	19	8	7	7	1	1	3	0	1	1	2	1	3	1	3	0	0	3	2	0	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73578420G>A	ENST00000261973.7	+	16	2487	c.2202G>A	c.(2200-2202)aaG>aaA	p.K734K	RBM25_ENST00000527432.1_Silent_p.K734K|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	734					apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGAAGAAAAGCGTAAACACA	0.423													A	73578420	G	A	73578420	2	1	364	1	0	0	0	0	0	0	0	1	13213	962	34	2		2	RBM25	14	73578420	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	781	73578420	33771120	10639	34141											
PAPLN	89932	broad.mit.edu	37	chr14	73718426	73718426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcactggaccatcgaggCggcccgggccctgccagcag	6	4	16	15	3	0	0	0	0	0	0	1	2	0	1	4	5	2	2	4	5	0	0	rs150353286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73718426C>T	ENST00000427855.1	+	9	827	c.725C>T	c.(724-726)gCg>gTg	p.A242V	PAPLN_ENST00000554301.1_Missense_Mutation_p.A242V|PAPLN_ENST00000340738.5_Missense_Mutation_p.A215V|PAPLN_ENST00000381166.3_Missense_Mutation_p.A242V|PAPLN_ENST00000555445.1_Missense_Mutation_p.A242V			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	242						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		ACCATCGAGGCGGCCCGGGCC	0.672													T	73718426	C	T	73718426	3	4	364	1	0	0	0	0	1	0	0	0	11504	768	27	1	670	1	PAPLN	14	73718426	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140006	73718426	33631114	10640	34142											
PAPLN	89932	broad.mit.edu	37	chr14	73721704	73721704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtggagccttgtaacacGcagccctgtcatctccccca	8	9	9	15	1	2	0	1	0	1	0	3	2	2	1	4	1	3	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73721704G>A	ENST00000427855.1	+	14	1707	c.1605G>A	c.(1603-1605)acG>acA	p.T535T	PAPLN_ENST00000554301.1_Silent_p.T535T|PAPLN_ENST00000340738.5_Silent_p.T508T|PAPLN_ENST00000381166.3_Silent_p.T535T|PAPLN_ENST00000555445.1_Silent_p.T535T			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	535	TSP type-1 5.					proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CTTGTAACACGCAGCCCTGTC	0.642													A	73721704	G	A	73721704	2	1	364	1	0	0	0	0	0	0	0	1	11504	1074	38	1		1	PAPLN	14	73721704	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3278	73721704	33627836	10641	34143											
NUMB	8650	broad.mit.edu	37	chr14	73750787	73750787	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcaggtagatgctacattAcctgcatttttaatggggaa	12	13	10	6	0	1	1	1	0	0	1	1	2	1	2	1	3	4	3	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73750787A>G	ENST00000556772.1	-	4	2805		c.e4+1		NUMB_ENST00000356296.4_Splice_Site|NUMB_ENST00000557597.1_Splice_Site|NUMB_ENST00000355058.3_Splice_Site|NUMB_ENST00000454166.4_Intron|NUMB_ENST00000555238.1_Splice_Site|NUMB_ENST00000554521.2_Intron|NUMB_ENST00000544991.3_Intron|NUMB_ENST00000555738.2_Intron|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000559312.1_Intron|NUMB_ENST00000554546.1_Splice_Site|NUMB_ENST00000560335.1_Intron|NUMB_ENST00000359560.3_Splice_Site|NUMB_ENST00000535282.1_Splice_Site			P49757	NUMB_HUMAN	numb homolog (Drosophila)						axon guidance|lateral ventricle development|neuroblast division in subventricular zone|positive regulation of neurogenesis	integral to plasma membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		ATGCTACATTACCTGCATTTT	0.448													G	73750787	A	G	73750787	5	3	364	1	0	0	0	0	0	0	1	0	10827	405	14	3	1020	3	NUMB	14	73750787	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29083	73750787	33598753	10642	34144											
HEATR4	399671	broad.mit.edu	37	chr14	73945427	73945427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatctaaatggtcccacagCaatccttttctcgggggagg	9	10	12	10	1	2	0	0	0	2	0	5	2	4	2	2	5	1	1	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:73945427C>T	ENST00000553558.1	-	18	3286	c.2965G>A	c.(2965-2967)Gct>Act	p.A989T	HEATR4_ENST00000560393.1_Missense_Mutation_p.A942T|HEATR4_ENST00000334988.2_Missense_Mutation_p.A989T|HEATR4_ENST00000566478.1_5'UTR	NM_001220484.1	NP_001207413.1			HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GGTCCCACAGCAATCCTTTTC	0.453													T	73945427	C	T	73945427	3	4	364	1	0	0	0	0	1	0	0	0	7085	710	25	2	119	2	HEATR4	14	73945427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194640	73945427	33404113	10643	34145											
DNAL1	83544	broad.mit.edu	37	chr14	74125656	74125656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccatgcttgctaattGcgagtaagttctcttttcat	7	18	7	9	1	2	0	1	0	1	0	4	1	3	0	1	0	3	4	1	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74125656G>A	ENST00000553645.2	+	3	190	c.149G>A	c.(148-150)tGc>tAc	p.C50Y	DNAL1_ENST00000554339.1_Intron|DNAL1_ENST00000311089.3_Intron|DNAL1_ENST00000554871.1_Missense_Mutation_p.C11Y|DNAL1_ENST00000540526.1_Missense_Mutation_p.C11Y	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1											kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		CTTGCTAATTGCGAGTAAGTT	0.398													A	74125656	G	A	74125656	3	1	364	1	0	0	0	0	1	0	0	0	4696	1319	46	2	159	2	DNAL1	14	74125656	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180229	74125656	33223884	10644	34146											
DNAL1	83544	broad.mit.edu	37	chr14	74153965	74153965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attttgttctttttcaggagGcagtaggggacacattagaa	11	14	11	5	0	2	1	1	0	1	1	2	3	2	3	0	4	0	3	0	4	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74153965G>A	ENST00000553645.2	+	6	309	c.268G>A	c.(268-270)Gca>Aca	p.A90T	DNAL1_ENST00000554339.1_Missense_Mutation_p.A3T|DNAL1_ENST00000311089.3_5'UTR|DNAL1_ENST00000554871.1_Missense_Mutation_p.A51T|DNAL1_ENST00000540526.1_Missense_Mutation_p.A51T	NM_031427.3	NP_113615.2	Q4LDG9	DNAL1_HUMAN	dynein, axonemal, light chain 1											kidney(1)|lung(2)	3				BRCA - Breast invasive adenocarcinoma(234;0.00384)|KIRC - Kidney renal clear cell carcinoma(182;0.095)		TTTTCAGGAGGCAGTAGGGGA	0.323													A	74153965	G	A	74153965	3	1	364	1	0	0	0	0	1	0	0	0	4696	1203	42	2	290	2	DNAL1	14	74153965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28309	74153965	33195575	10645	34147											
FAM161B	145483	broad.mit.edu	37	chr14	74413270	74413270	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccccggacagctcctcTcctgcctctgtgtctgcgaa	5	10	8	18	2	3	0	0	0	3	0	6	2	5	1	6	1	3	1	6	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74413270T>C	ENST00000286544.3	-	2	480	c.282A>G	c.(280-282)ggA>ggG	p.G94G	FAM161B_ENST00000534936.1_Silent_p.G31G	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						ACAGCTCCTCTCCTGCCTCTG	0.473													C	74413270	T	C	74413270	2	2	364	1	0	0	0	0	0	0	0	1	5518	1538	54	3		3	FAM161B	14	74413270	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	259305	74413270	32936270	10646	34148											
COQ6	51004	broad.mit.edu	37	chr14	74428545	74428545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctctattctaccagtgcctCcccgcttgtgttgctcagga	5	13	9	14	1	3	0	1	0	2	0	4	1	4	1	4	1	3	4	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74428545C>T	ENST00000334571.2	+	11	1356	c.1316C>T	c.(1315-1317)tCc>tTc	p.S439F	ENTPD5_ENST00000557325.1_Intron|COQ6_ENST00000554920.1_Intron|COQ6_ENST00000238709.4_Missense_Mutation_p.S364F|COQ6_ENST00000394026.4_Missense_Mutation_p.S414F	NM_182476.2	NP_872282.1	Q9Y2Z9	COQ6_HUMAN	coenzyme Q6 monooxygenase	439					ubiquinone biosynthetic process	mitochondrion	flavin adenine dinucleotide binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(234;0.00337)		ACCAGTGCCTCCCCGCTTGTG	0.502													T	74428545	C	T	74428545	3	4	364	1	0	0	0	0	1	0	0	0	3780	855	30	2	1358	2	COQ6	14	74428545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15275	74428545	32920995	10647	34149											
ALDH6A1	4329	broad.mit.edu	37	chr14	74531942	74531942	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctccattggtggtgaagAtggcagttccatttccatat	8	14	11	8	0	0	2	0	1	0	1	3	2	3	2	3	4	0	3	3	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74531942A>C	ENST00000553458.1	-	10	1444	c.1346T>G	c.(1345-1347)aTc>aGc	p.I449S	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.I436S|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000555126.1_Missense_Mutation_p.I166S|CCDC176_ENST00000553773.1_Intron|CCDC176_ENST00000394009.3_3'UTR	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	449						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGTGGTGAAGATGGCAGTTCC	0.423													C	74531942	A	C	74531942	3	2	364	1	0	0	0	0	1	0	0	0	503	333	12	5	273	5	ALDH6A1	14	74531942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	103397	74531942	32817598	10648	34150											
ALDH6A1	4329	broad.mit.edu	37	chr14	74537970	74537970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggagcaacttagcaagaaGcatagttgctccagggactc	12	8	11	10	0	0	1	0	0	0	1	2	3	1	3	1	2	5	5	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74537970G>A	ENST00000553458.1	-	6	756	c.658C>T	c.(658-660)Ctt>Ttt	p.L220F	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.L207F|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	220						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TTAGCAAGAAGCATAGTTGCT	0.473													A	74537970	G	A	74537970	3	1	364	1	0	0	0	0	1	0	0	0	503	971	34	2	977	2	ALDH6A1	14	74537970	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6028	74537970	32811570	10649	34151											
ALDH6A1	4329	broad.mit.edu	37	chr14	74538062	74538062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acatccaaagggggatcatgGcaggaaaattgaatggagca	16	6	13	6	0	1	1	1	1	0	0	2	4	2	4	1	5	1	2	1	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:74538062G>A	ENST00000553458.1	-	6	664	c.566C>T	c.(565-567)gCc>gTc	p.A189V	ALDH6A1_ENST00000350259.4_Missense_Mutation_p.A176V|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	189						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	GGGGATCATGGCAGGAAAATT	0.498													A	74538062	G	A	74538062	3	1	364	1	0	0	0	0	1	0	0	0	503	1203	42	2	1069	2	ALDH6A1	14	74538062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92	74538062	32811478	10650	34152											
LTBP2	4053	broad.mit.edu	37	chr14	75078499	75078499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcgccgcagtcgattcGcgtctccaccagccggctcg	5	6	13	17	7	1	0	0	0	1	0	5	1	1	0	4	2	1	2	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75078499G>A	ENST00000261978.4	-	1	535	c.149C>T	c.(148-150)gCg>gTg	p.A50V	LTBP2_ENST00000556690.1_Missense_Mutation_p.A50V|LTBP2_ENST00000557425.1_Intron	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	50					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGTCGATTCGCGTCTCCACC	0.692													A	75078499	G	A	75078499	3	1	364	1	0	0	0	0	1	0	0	0	9144	1087	38	1	5460	1	LTBP2	14	75078499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	540437	75078499	32271041	10651	34153											
YLPM1	56252	broad.mit.edu	37	chr14	75248346	75248346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccacctctacctacaatgCcccctccagtgttgcctcct	6	11	4	20	0	1	0	0	0	1	0	4	0	4	0	8	0	4	1	8	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75248346C>T	ENST00000325680.7	+	4	1724	c.1600C>T	c.(1600-1602)Ccc>Tcc	p.P534S	YLPM1_ENST00000552421.1_Missense_Mutation_p.P534S|YLPM1_ENST00000238571.3_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		ACCTACAATGCCCCCTCCAGT	0.532													T	75248346	C	T	75248346	3	4	364	1	0	0	0	0	1	0	0	0	17588	739	26	2	1614	2	YLPM1	14	75248346	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169847	75248346	32101194	10652	34154											
YLPM1	56252	broad.mit.edu	37	chr14	75265633	75265633	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattagatggtagaaatgcTccaatggaacgagaaagact	16	8	10	7	1	0	4	0	0	0	4	1	6	1	5	2	2	2	2	2	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75265633T>C	ENST00000325680.7	+	5	3757	c.3633T>C	c.(3631-3633)gcT>gcC	p.A1211A	YLPM1_ENST00000552421.1_Intron|YLPM1_ENST00000238571.3_Silent_p.A1016A	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1016					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GTAGAAATGCTCCAATGGAAC	0.448													C	75265633	T	C	75265633	2	2	364	1	0	0	0	0	0	0	0	1	17588	1538	54	3		3	YLPM1	14	75265633	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17287	75265633	32083907	10653	34155											
PROX2	283571	broad.mit.edu	37	chr14	75329592	75329592	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggggtcattcttggagggaTagggtacctaggagaatcta	10	10	16	5	0	3	1	1	0	2	1	3	4	3	3	1	6	1	1	1	6	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329592T>C	ENST00000556489.2	-	1	945	c.946A>G	c.(946-948)Atc>Gtc	p.I316V	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.I316V	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	316					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CTTGGAGGGATAGGGTACCTA	0.527													C	75329592	T	C	75329592	3	2	364	1	0	0	0	0	1	0	0	0	12647	1406	49	3	848	3	PROX2	14	75329592	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	63959	75329592	32019948	10654	34156											
PROX2	283571	broad.mit.edu	37	chr14	75329615	75329615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctaggagaatctagaCgcttggccagtgataaattt	12	11	11	7	1	1	3	0	1	1	2	1	4	1	3	2	3	1	2	2	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75329615C>T	ENST00000556489.2	-	1	922	c.923G>A	c.(922-924)cGt>cAt	p.R308H	PROX2_ENST00000556084.2_Intron|PROX2_ENST00000445876.1_Missense_Mutation_p.R308H	NM_001243007.1	NP_001229936.1	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	308					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		AGAATCTAGACGCTTGGCCAG	0.552													T	75329615	C	T	75329615	3	4	364	1	0	0	0	0	1	0	0	0	12647	536	19	1	871	1	PROX2	14	75329615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	75329615	32019925	10655	34157											
PROX2	283571	broad.mit.edu	37	chr14	75330051	75330051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccgtgccacagcctcctgGcccctgagctgtgtccctgg	3	8	11	19	1	0	1	0	1	0	0	2	1	2	1	8	2	3	1	8	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75330051G>A	ENST00000556084.2	-	1	486	c.487C>T	c.(487-489)Cca>Tca	p.P163S	PROX2_ENST00000445876.1_Missense_Mutation_p.P163S|PROX2_ENST00000556489.2_Missense_Mutation_p.P163S	NM_001080408.2	NP_001073877.2	Q3B8N5	PROX2_HUMAN	prospero homeobox 2	163					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			kidney(1)|large_intestine(2)|lung(3)	6			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00652)		CAGCCTCCTGGCCCCTGAGCT	0.602													A	75330051	G	A	75330051	3	1	364	1	0	0	0	0	1	0	0	0	12647	1203	42	2	1307	2	PROX2	14	75330051	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	436	75330051	32019489	10656	34158											
RPS6KL1	83694	broad.mit.edu	37	chr14	75376485	75376485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcaggaacccaagtgagcCcccgagggggcccagcgtct	8	4	13	16	2	2	1	1	1	1	0	2	3	2	2	5	3	3	0	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75376485C>T	ENST00000555647.1	-	8	1318	c.1031G>A	c.(1030-1032)gGg>gAg	p.G344E	RPS6KL1_ENST00000354625.2_Missense_Mutation_p.G313E|RPS6KL1_ENST00000358328.4_Missense_Mutation_p.G344E|RPS6KL1_ENST00000557413.1_Missense_Mutation_p.G344E			Q9Y6S9	RPKL1_HUMAN	ribosomal protein S6 kinase-like 1	344	Protein kinase.					ribosome	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(234;0.00658)		CCAAGTGAGCCCCCGAGGGGG	0.692													T	75376485	C	T	75376485	3	4	364	1	0	0	0	0	1	0	0	0	13750	623	22	2	711	2	RPS6KL1	14	75376485	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46434	75376485	31973055	10657	34159											
PGF	5228	broad.mit.edu	37	chr14	75416192	75416192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgctggggtactcggacacGacgtccaccagcctctccag	7	7	11	16	4	1	0	0	0	1	0	5	2	2	1	4	3	2	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75416192G>A	ENST00000555567.1	-	3	724	c.183C>T	c.(181-183)gtC>gtT	p.V61V	PGF_ENST00000553716.1_Silent_p.V61V|PGF_ENST00000238607.6_Silent_p.V60V|PGF_ENST00000405431.2_Silent_p.V61V	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	61					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		ACTCGGACACGACGTCCACCA	0.657													A	75416192	G	A	75416192	2	1	364	1	0	0	0	0	0	0	0	1	11865	1045	37	1		1	PGF	14	75416192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39707	75416192	31933348	10658	34160											
MLH3	27030	broad.mit.edu	37	chr14	75513291	75513291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgctttagattcctcaCtctgaaaacaaattccattt	11	16	3	11	0	3	2	1	1	2	1	5	2	5	2	2	0	2	1	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75513291C>A	ENST00000355774.2	-	2	3283	c.3068G>T	c.(3067-3069)aGt>aTt	p.S1023I	MLH3_ENST00000556740.1_Missense_Mutation_p.S1023I|MLH3_ENST00000556257.1_Missense_Mutation_p.S1023I|MLH3_ENST00000380968.2_5'UTR|MLH3_ENST00000544985.1_Missense_Mutation_p.S18I|MLH3_ENST00000238662.7_Missense_Mutation_p.S1023I|MLH3_ENST00000555671.1_5'UTR	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	1023					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		AGATTCCTCACTCTGAAAACA	0.443								Mismatch excision repair (MMR)					A	75513291	C	A	75513291	3	1	364	1	0	0	0	0	1	0	0	0	9693	565	20	4	1341	4	MLH3	14	75513291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97099	75513291	31836249	10659	34161											
MLH3	27030	broad.mit.edu	37	chr14	75514329	75514329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctagcccataacttatattcGttctgcaattttttttgttg	8	20	5	8	1	1	0	0	0	1	0	2	0	1	0	1	0	3	3	1	0	5	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75514329G>A	ENST00000355774.2	-	2	2245	c.2030C>T	c.(2029-2031)aCg>aTg	p.T677M	MLH3_ENST00000556740.1_Missense_Mutation_p.T677M|MLH3_ENST00000556257.1_Missense_Mutation_p.T677M|MLH3_ENST00000380968.2_De_novo_Start_InFrame|MLH3_ENST00000238662.7_Missense_Mutation_p.T677M	NM_001040108.1	NP_001035197.1	Q9UHC1	MLH3_HUMAN	mutL homolog 3	677					mismatch repair|reciprocal meiotic recombination	chiasma|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|mismatched DNA binding|protein binding|satellite DNA binding			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	44				BRCA - Breast invasive adenocarcinoma(234;0.00688)		ACTTATATTCGTTCTGCAATT	0.343								Mismatch excision repair (MMR)					A	75514329	G	A	75514329	3	1	364	1	0	0	0	0	1	0	0	0	9693	1145	40	1	2379	1	MLH3	14	75514329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1038	75514329	31835211	10660	34162											
TMED10	10972	broad.mit.edu	37	chr14	75643203	75643203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatggcaaggaccaatCtggggccgagcaggaacaaa	15	3	15	8	1	1	1	0	0	1	1	1	5	1	3	2	6	2	2	2	6	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75643203C>A	ENST00000303575.4	-	1	131	c.80G>T	c.(79-81)aGa>aTa	p.R27I		NM_006827.5	NP_006818.3	P49755	TMEDA_HUMAN	transmembrane emp24-like trafficking protein 10 (yeast)	27					protein transport|regulated secretory pathway|vesicle targeting, to, from or within Golgi	cis-Golgi network|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|melanosome|microsome|zymogen granule membrane	protein binding			endometrium(1)|large_intestine(5)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(234;0.0126)		AAGGACCAATCTGGGGCCGAG	0.582													A	75643203	C	A	75643203	3	1	364	1	0	0	0	0	1	0	0	0	16103	913	32	4	599	4	TMED10	14	75643203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128874	75643203	31706337	10661	34163											
BATF	10538	broad.mit.edu	37	chr14	75991505	75991505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagagccgacagaggcagAcacagaaggccgacaccctg	15	1	13	12	2	0	5	0	0	0	5	0	7	0	5	3	2	1	1	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:75991505A>G	ENST00000286639.6	+	2	400	c.142A>G	c.(142-144)Aca>Gca	p.T48A	BATF_ENST00000555795.1_3'UTR|BATF_ENST00000555504.1_Missense_Mutation_p.T48A	NM_006399.3	NP_006390.1	Q16520	BATF_HUMAN	basic leucine zipper transcription factor, ATF-like	48						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(1)|skin(1)	3				BRCA - Breast invasive adenocarcinoma(234;0.028)		ACAGAGGCAGACACAGAAGGC	0.547													G	75991505	A	G	75991505	3	3	364	1	0	0	0	0	1	0	0	0	1330	275	10	3	148	3	BATF	14	75991505	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	348302	75991505	31358035	10662	34164											
FLVCR2	55640	broad.mit.edu	37	chr14	76090972	76090972	+	Frame_Shift_Del	DEL	A	A	-																															cagtgttcaaggagaaacctAaatatccccccagcagggcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76090972delA	ENST00000238667.4	+	3	1185	c.829delA	c.(829-831)aaafs	p.K277fs	FLVCR2_ENST00000553587.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000556856.1_Frame_Shift_Del_p.K25fs|FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000539311.1_Frame_Shift_Del_p.K72fs	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	277					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		GGAGAAACCTAAATATCCCCC	0.488													-	76090972	A	-	76090972	7	5	364	1	0	1	0	1	0	0	0	0	5995	363	13	0	839	0	FLVCR2	14	76090972	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	99467	76090972	31258568	10663	34165											
TTLL5	23093	broad.mit.edu	37	chr14	76147930	76147930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgtacgaacggacagtcGcctagtacgcagcattctga	11	9	11	10	4	1	1	0	1	1	0	2	4	1	2	1	1	4	4	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76147930G>A	ENST00000298832.9	+	4	429	c.224G>A	c.(223-225)cGc>cAc	p.R75H	TTLL5_ENST00000557636.1_Missense_Mutation_p.R75H|TTLL5_ENST00000556977.1_Missense_Mutation_p.R75H|TTLL5_ENST00000286650.5_Missense_Mutation_p.R75H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	75	TTL.				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		ACGGACAGTCGCCTAGTACGC	0.358													A	76147930	G	A	76147930	3	1	364	1	0	0	0	0	1	0	0	0	16832	1087	38	1	234	1	TTLL5	14	76147930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56958	76147930	31201610	10664	34166											
TTLL5	23093	broad.mit.edu	37	chr14	76330205	76330205	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcgagcccggcaccaGgtaattcaagataagtcttt	12	9	10	10	2	2	2	1	0	1	2	3	3	2	2	2	2	1	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76330205G>T	ENST00000298832.9	+	29	3727	c.3522G>T	c.(3520-3522)caG>caT	p.Q1174H	TTLL5_ENST00000557636.1_Splice_Site_p.Q1189H|TTLL5_ENST00000556893.1_Splice_Site_p.Q725H|TTLL5_ENST00000554510.1_Splice_Site_p.Q683H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1174					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CCCGGCACCAGGTAATTCAAG	0.423													T	76330205	G	T	76330205	5	4	364	1	0	0	0	0	0	0	1	0	16832	1014	35	4	3632	4	TTLL5	14	76330205	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182275	76330205	31019335	10665	34167											
TGFB3	7043	broad.mit.edu	37	chr14	76437556	76437556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggcagattcttgccacCgatatagcgctgtttggcaa	8	12	12	9	2	1	1	0	0	1	1	1	2	1	1	2	2	2	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:76437556C>T	ENST00000238682.3	-	3	856	c.559G>A	c.(559-561)Ggt>Agt	p.G187S	RP11-270M14.5_ENST00000553732.1_lincRNA|TGFB3_ENST00000556285.1_Missense_Mutation_p.G187S	NM_003239.2	NP_003230.1	P10600	TGFB3_HUMAN	transforming growth factor, beta 3	187					cell growth|cell-cell junction organization|detection of hypoxia|face morphogenesis|in utero embryonic development|induction of apoptosis|lung alveolus development|mammary gland development|menstrual cycle phase|negative regulation of cell proliferation|negative regulation of DNA replication|negative regulation of macrophage cytokine production|negative regulation of neuron apoptosis|odontogenesis|ossification involved in bone remodeling|palate development|platelet activation|platelet degranulation|positive regulation of bone mineralization|positive regulation of cell division|positive regulation of collagen biosynthetic process|positive regulation of DNA replication|positive regulation of epithelial to mesenchymal transition|positive regulation of filopodium assembly|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of protein secretion|positive regulation of SMAD protein import into nucleus|positive regulation of transcription from RNA polymerase II promoter|response to progesterone stimulus|salivary gland morphogenesis|transforming growth factor beta receptor signaling pathway	extracellular matrix|platelet alpha granule lumen	growth factor activity|identical protein binding|transforming growth factor beta binding|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	11				BRCA - Breast invasive adenocarcinoma(234;0.0169)		TTCTTGCCACCGATATAGCGC	0.562													T	76437556	C	T	76437556	3	4	364	1	0	0	0	0	1	0	0	0	15919	652	23	1	699	1	TGFB3	14	76437556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107351	76437556	30911984	10666	34168											
VASH1	22846	broad.mit.edu	37	chr14	77236357	77236357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtctacacctgtccctgagCgcctggaagctgtgcagcgc	6	8	12	15	3	1	1	0	1	1	0	2	2	2	2	3	1	5	2	3	1	2	1	rs145801473		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77236357C>T	ENST00000167106.4	+	2	994	c.361C>T	c.(361-363)Cgc>Tgc	p.R121C	VASH1_ENST00000554237.1_Missense_Mutation_p.R121C|VASH1_ENST00000556038.1_3'UTR	NM_014909.4	NP_055724.1	Q7L8A9	VASH1_HUMAN	vasohibin 1	121					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space				breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		TGTCCCTGAGCGCCTGGAAGC	0.592													T	77236357	C	T	77236357	3	4	364	1	0	0	0	0	1	0	0	0	17227	768	27	1	367	1	VASH1	14	77236357	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	798801	77236357	30113183	10667	34169											
ANGEL1	23357	broad.mit.edu	37	chr14	77272762	77272762	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcctctcccatttcaccttCcaggctggcatcccatggta	6	11	8	16	0	2	0	1	0	1	0	5	0	4	0	5	4	0	3	5	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77272762C>T	ENST00000251089.2	-	5	1489	c.1377G>A	c.(1375-1377)tgG>tgA	p.W459*		NM_015305.3	NP_056120.2	Q9UNK9	ANGE1_HUMAN	angel homolog 1 (Drosophila)	459										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	22			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0285)		ATTTCACCTTCCAGGCTGGCA	0.537													T	77272762	C	T	77272762	4	4	364	1	0	0	0	0	0	1	0	0	608	856	30	2	659	2	ANGEL1	14	77272762	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36405	77272762	30076778	10668	34170											
C14orf166B	145497	broad.mit.edu	37	chr14	77318754	77318754	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctgagctggaataacttCcacacaaggggagctgtggc	11	8	13	9	0	1	1	0	1	1	0	2	4	2	3	1	4	3	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77318754C>T	ENST00000393774.3	+	8	898	c.774C>T	c.(772-774)ttC>ttT	p.F258F	C14orf166B_ENST00000450042.2_3'UTR	NM_194287.2	NP_919263.2	Q0VAA2	CN16B_HUMAN	chromosome 14 open reading frame 166B	258										breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		GGAATAACTTCCACACAAGGG	0.572													T	77318754	C	T	77318754	2	4	364	1	0	0	0	0	0	0	0	1	1770	854	30	2		2	C14orf166B	14	77318754	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45992	77318754	30030786	10669	34171											
ZDHHC22	283576	broad.mit.edu	37	chr14	77605800	77605800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgcacactcggcagaagtgGgtgctaggtgaggggcatgg	8	6	19	8	2	0	2	0	1	0	1	1	2	0	2	0	6	1	4	0	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77605800G>A	ENST00000319374.4	-	2	484	c.282C>T	c.(280-282)acC>acT	p.T94T	RP11-463C8.4_ENST00000557752.1_Intron	NM_174976.2	NP_777636.2	Q8N966	ZDH22_HUMAN	zinc finger, DHHC-type containing 22	94						integral to membrane	acyltransferase activity|zinc ion binding			kidney(1)|lung(1)|urinary_tract(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0277)		GGCAGAAGTGGGTGCTAGGTG	0.622													A	77605800	G	A	77605800	2	1	364	1	0	0	0	0	0	0	0	1	17714	1219	43	2		2	ZDHHC22	14	77605800	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	287046	77605800	29743740	10670	34172											
TMEM63C	57156	broad.mit.edu	37	chr14	77719720	77719720	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacgcccacctccctcGtgagtcctgagtcccaggga	6	7	9	19	2	0	2	0	2	0	0	5	3	4	3	7	1	0	0	7	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77719720G>A	ENST00000298351.4	+	23	2364		c.e23+1			NM_020431.2	NP_065164.2	Q9P1W3	TM63C_HUMAN	transmembrane protein 63C							integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(1)	23			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0342)		CACCTCCCTCGTGAGTCCTGA	0.612													A	77719720	G	A	77719720	5	1	364	1	0	0	0	0	0	0	1	0	16292	1159	40	1	2303	1	TMEM63C	14	77719720	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113920	77719720	29629820	10671	34173											
POMT2	29954	broad.mit.edu	37	chr14	77767459	77767459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagactgaggtctccgaacaGgtaccaaaggtctgcaatgg	13	7	12	9	1	2	2	0	1	2	1	3	3	2	2	2	4	3	2	2	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77767459G>T	ENST00000261534.4	-	6	992	c.790C>A	c.(790-792)Ctg>Atg	p.L264M		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	264					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		TCTCCGAACAGGTACCAAAGG	0.507											OREG0022837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77767459	G	T	77767459	3	4	364	1	0	0	0	0	1	0	0	0	12323	991	35	4	1526	4	POMT2	14	77767459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47739	77767459	29582081	10672	34174											
GSTZ1	2954	broad.mit.edu	37	chr14	77793211	77793211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggcatcgactacgagaCggtgcccatcaatctcataa	14	7	9	11	3	2	1	2	0	1	1	4	4	2	1	1	2	2	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77793211C>T	ENST00000216465.5	+	3	383	c.98C>T	c.(97-99)aCg>aTg	p.T33M	GSTZ1_ENST00000554279.1_Missense_Mutation_p.T33M|GSTZ1_ENST00000556627.1_Missense_Mutation_p.T33M|GSTZ1_ENST00000557639.1_5'UTR|GSTZ1_ENST00000349555.3_Missense_Mutation_p.T33M|GSTZ1_ENST00000557053.1_5'UTR|GSTZ1_ENST00000393734.1_5'UTR|GSTZ1_ENST00000361389.4_5'UTR|GSTZ1_ENST00000553586.1_Missense_Mutation_p.T34M	NM_145870.2	NP_665877.1	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	33	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	GACTACGAGACGGTGCCCATC	0.547													T	77793211	C	T	77793211	3	4	364	1	0	0	0	0	1	0	0	0	6903	536	19	1	108	1	GSTZ1	14	77793211	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25752	77793211	29556329	10673	34175											
GSTZ1	2954	broad.mit.edu	37	chr14	77795519	77795519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagctgacctgggcccaGaacgccatcacttgtggctt	8	9	11	13	1	1	2	1	1	0	1	1	2	1	2	3	2	3	3	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77795519G>T	ENST00000393734.1	+	7	768	c.231G>T	c.(229-231)caG>caT	p.Q77H	GSTZ1_ENST00000216465.5_Missense_Mutation_p.Q132H|GSTZ1_ENST00000554279.1_Missense_Mutation_p.Q118H|GSTZ1_ENST00000556627.1_Missense_Mutation_p.Q105H|GSTZ1_ENST00000557639.1_Missense_Mutation_p.Q77H|GSTZ1_ENST00000349555.3_Missense_Mutation_p.Q90H|GSTZ1_ENST00000557053.1_Missense_Mutation_p.Q35H|GSTZ1_ENST00000361389.4_Missense_Mutation_p.Q77H|GSTZ1_ENST00000553586.1_Missense_Mutation_p.Q133H	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	132	GST N-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity	p.Q77H(1)|p.Q132H(1)		lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	CCTGGGCCCAGAACGCCATCA	0.582													T	77795519	G	T	77795519	3	4	364	1	0	0	0	0	1	0	0	0	6903	933	33	4	418	4	GSTZ1	14	77795519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2308	77795519	29554021	10674	34176											
GSTZ1	2954	broad.mit.edu	37	chr14	77797420	77797420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctactacagattcaaggTggatctcaccccctacccta	10	11	5	15	0	3	1	2	0	2	1	5	2	3	2	3	2	3	0	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77797420T>C	ENST00000393734.1	+	10	905	c.368T>C	c.(367-369)gTg>gCg	p.V123A	GSTZ1_ENST00000216465.5_Missense_Mutation_p.V178A|GSTZ1_ENST00000554279.1_Missense_Mutation_p.V164A|GSTZ1_ENST00000556627.1_Missense_Mutation_p.V151A|GSTZ1_ENST00000557639.1_Missense_Mutation_p.V123A|GSTZ1_ENST00000349555.3_Missense_Mutation_p.V136A|GSTZ1_ENST00000557053.1_Missense_Mutation_p.V81A|GSTZ1_ENST00000361389.4_Missense_Mutation_p.V123A|GSTZ1_ENST00000553586.1_Missense_Mutation_p.V179A	NM_001513.3	NP_001504.2	O43708	MAAI_HUMAN	glutathione S-transferase zeta 1	178	GST C-terminal.				glutathione metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol|mitochondrion	glutathione peroxidase activity|glutathione transferase activity|maleylacetoacetate isomerase activity|protein homodimerization activity			lung(2)|prostate(1)	3			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)	Glutathione(DB00143)	AGATTCAAGGTGGATCTCACC	0.577													C	77797420	T	C	77797420	3	2	364	1	0	0	0	0	1	0	0	0	6903	1696	59	3	567	3	GSTZ1	14	77797420	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1901	77797420	29552120	10675	34177											
TMED8	283578	broad.mit.edu	37	chr14	77809722	77809722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtcaccacctcaccacGcttcaccaccagacggctgt	9	7	8	17	2	3	1	3	0	0	1	3	2	3	1	5	2	0	2	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77809722G>A	ENST00000216468.7	-	5	614	c.559C>T	c.(559-561)Cgt>Tgt	p.R187C		NM_213601.1	NP_998766.1	Q6PL24	TMED8_HUMAN	transmembrane emp24 protein transport domain containing 8	187	GOLD.				transport	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)	15			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACCTCACCACGCTTCACCACC	0.537													A	77809722	G	A	77809722	3	1	364	1	0	0	0	0	1	0	0	0	16111	1087	38	1	425	1	TMED8	14	77809722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12302	77809722	29539818	10676	34178											
ISM2	145501	broad.mit.edu	37	chr14	77942399	77942399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcccgcagcatctggctcaGatacttgattaggaagtcgc	9	10	11	11	2	2	2	1	1	1	1	4	3	3	3	1	2	2	3	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:77942399G>A	ENST00000393684.3	-	8	1382	c.991C>T	c.(991-993)Ctg>Ttg	p.L331L	ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000342219.4_Silent_p.L419L|ISM2_ENST00000429906.1_Silent_p.L338L|ISM2_ENST00000412904.1_Silent_p.L338L			Q6H9L7	ISM2_HUMAN	isthmin 2	419	TSP type-1.					extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						ATCTGGCTCAGATACTTGATT	0.602													A	77942399	G	A	77942399	2	1	364	1	0	0	0	0	0	0	0	1	7919	933	33	2		2	ISM2	14	77942399	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	132677	77942399	29407141	10677	34179											
SPTLC2	9517	broad.mit.edu	37	chr14	78028820	78028820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattcagttcatcactcaGaatcaggcaaccctgcaaca	14	9	6	12	0	5	2	5	1	0	1	5	2	5	2	1	1	3	3	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78028820G>T	ENST00000216484.2	-	6	962	c.769C>A	c.(769-771)Ctg>Atg	p.L257M		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	257						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	TCATCACTCAGAATCAGGCAA	0.433													T	78028820	G	T	78028820	3	4	364	1	0	0	0	0	1	0	0	0	15220	933	33	4	947	4	SPTLC2	14	78028820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86421	78028820	29320720	10678	34180											
ALKBH1	8846	broad.mit.edu	37	chr14	78142174	78142174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagaagggaaaggtgtgtAatgatctgctgagtatttct	11	13	13	4	0	3	3	1	2	2	1	3	4	3	4	0	2	1	3	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78142174A>G	ENST00000216489.3	-	5	580	c.565T>C	c.(565-567)Tac>Cac	p.Y189H		NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	189					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		AAAGGTGTGTAATGATCTGCT	0.393													G	78142174	A	G	78142174	3	3	364	1	0	0	0	0	1	0	0	0	526	362	13	3	612	3	ALKBH1	14	78142174	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	113354	78142174	29207366	10679	34181											
SNW1	22938	broad.mit.edu	37	chr14	78184425	78184425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcactttggagagacCtgtgcctattccttcctcct	6	16	6	13	0	2	1	2	0	0	1	5	3	5	2	5	1	1	0	5	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78184425C>A	ENST00000555761.1	-	13	1725	c.1697G>T	c.(1696-1698)aGg>aTg	p.R566M	SLIRP_ENST00000557623.1_Intron|SNW1_ENST00000261531.7_3'UTR|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_3'UTR			Q13573	SNW1_HUMAN	SNW domain containing 1	0					negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TTGGAGAGACCTGTGCCTATT	0.468													A	78184425	C	A	78184425	3	1	364	1	0	0	0	0	1	0	0	0	14973	696	24	4		4	SNW1	14	78184425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42251	78184425	29165115	10680	34182											
SNW1	22938	broad.mit.edu	37	chr14	78202306	78202306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctaggagaatgcatgacagGcgcaggaggagaaggtggtc	12	5	18	6	1	0	3	0	1	0	2	1	6	0	4	0	6	1	3	0	6	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78202306G>A	ENST00000261531.7	-	7	744	c.682C>T	c.(682-684)Cct>Tct	p.P228S	SNW1_ENST00000555761.1_Missense_Mutation_p.P228S|SLIRP_ENST00000557431.1_Intron|SNW1_ENST00000554775.1_Missense_Mutation_p.P66S	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	228	Pro-rich.|SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		TGCATGACAGGCGCAGGAGGA	0.388													A	78202306	G	A	78202306	3	1	364	1	0	0	0	0	1	0	0	0	14973	1203	42	2	960	2	SNW1	14	78202306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17881	78202306	29147234	10681	34183											
ADCK1	57143	broad.mit.edu	37	chr14	78365463	78365463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcgttctggctgtgaaGcagctgttcccagagtttga	6	13	13	9	1	1	3	0	2	1	1	3	3	2	3	1	1	3	7	1	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365463G>T	ENST00000238561.5	+	6	702	c.603G>T	c.(601-603)aaG>aaT	p.K201N	ADCK1_ENST00000341211.5_Missense_Mutation_p.K133N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	208	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGGCTGTGAAGCAGCTGTTCC	0.507													T	78365463	G	T	78365463	3	4	364	1	0	0	0	0	1	0	0	0	288	962	34	4	621	4	ADCK1	14	78365463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163157	78365463	28984077	10682	34184											
ADCK1	57143	broad.mit.edu	37	chr14	78365512	78365512	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgtggatgaagccaagAagaacctgcctttggagctg	10	9	14	8	0	0	3	0	1	0	2	0	5	0	5	3	3	4	2	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78365512A>G	ENST00000238561.5	+	6	751	c.652A>G	c.(652-654)Aag>Gag	p.K218E	ADCK1_ENST00000341211.5_Missense_Mutation_p.K150E	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	225	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		TGAAGCCAAGAAGAACCTGCC	0.498													G	78365512	A	G	78365512	3	3	364	1	0	0	0	0	1	0	0	0	288	247	9	3	670	3	ADCK1	14	78365512	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49	78365512	28984028	10683	34185											
ADCK1	57143	broad.mit.edu	37	chr14	78390902	78390902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactggtgcggaagcaccccGgcacgggaaaggcggagatt	10	5	16	10	4	0	1	0	0	0	1	0	4	0	3	2	6	3	2	2	6	3	2	rs140287525	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78390902G>A	ENST00000238561.5	+	8	1060	c.961G>A	c.(961-963)Ggc>Agc	p.G321S	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.G253S	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	328	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GAAGCACCCCGGCACGGGAAA	0.582													A	78390902	G	A	78390902	3	1	364	1	0	0	0	0	1	0	0	0	288	1116	39	1	987	1	ADCK1	14	78390902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25390	78390902	28958638	10684	34186											
ADCK1	57143	broad.mit.edu	37	chr14	78392212	78392212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccagcgactgggagccgggGatctctaccccttgtttgcc	5	9	13	14	2	1	0	0	0	1	0	2	3	1	2	5	3	4	1	5	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:78392212G>A	ENST00000238561.5	+	9	1213	c.1114G>A	c.(1114-1116)Gat>Aat	p.D372N	ADCK1_ENST00000556560.1_3'UTR|ADCK1_ENST00000341211.5_Missense_Mutation_p.D304N	NM_020421.3	NP_065154.2	Q86TW2	ADCK1_HUMAN	aarF domain containing kinase 1	379	Protein kinase.					extracellular region	ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(2)	25			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0376)		GGGAGCCGGGGATCTCTACCC	0.587													A	78392212	G	A	78392212	3	1	364	1	0	0	0	0	1	0	0	0	288	1174	41	2	1144	2	ADCK1	14	78392212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1310	78392212	28957328	10685	34187											
NRXN3	9369	broad.mit.edu	37	chr14	79175605	79175605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctggagctgtctcgcctgGcccggattgcggacaccaag	6	8	14	13	3	2	0	0	0	2	0	3	3	2	3	3	4	2	1	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79175605G>T	ENST00000554719.1	+	4	639	c.148G>T	c.(148-150)Gcc>Tcc	p.A50S	RP11-232C2.2_ENST00000555680.1_RNA|NRXN3_ENST00000335750.5_Missense_Mutation_p.A50S	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	0					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GTCTCGCCTGGCCCGGATTGC	0.463													T	79175605	G	T	79175605	3	4	364	1	0	0	0	0	1	0	0	0	10743	1203	42	4	154	4	NRXN3	14	79175605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	783393	79175605	28173935	10686	34188											
NRXN3	9369	broad.mit.edu	37	chr14	79746880	79746880	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcccttcgaggaggacaCggtaggtctctctgctcttt	5	14	11	11	2	3	0	0	0	3	0	6	3	4	2	1	4	1	3	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79746880C>T	ENST00000281127.7	+	1	1125	c.246C>T	c.(244-246)caC>caT	p.H82H	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Splice_Site_p.H82H|NRXN3_ENST00000557594.1_Splice_Site_p.H82H	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	82					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		GAGGAGGACACGGTAGGTCTC	0.488													T	79746880	C	T	79746880	5	4	364	1	0	0	0	0	0	0	1	0	10743	550	19	1	2431	1	NRXN3	14	79746880	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	571275	79746880	27602660	10687	34189											
NRXN3	9369	broad.mit.edu	37	chr14	79933703	79933703	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggcatcttggtccgcatCgacagtgctccaggacttgg	7	10	13	11	2	1	0	0	0	1	0	4	3	3	1	2	4	1	3	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:79933703C>T	ENST00000281127.7	+	2	1266	c.387C>T	c.(385-387)atC>atT	p.I129I	NRXN3_ENST00000554719.1_Silent_p.I761I|NRXN3_ENST00000556003.1_3'UTR|NRXN3_ENST00000335750.5_Silent_p.I761I|NRXN3_ENST00000428277.2_Silent_p.I129I|NRXN3_ENST00000557594.1_Silent_p.I129I	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	129	Laminin G-like.				angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TGGTCCGCATCGACAGTGCTC	0.557													T	79933703	C	T	79933703	2	4	364	1	0	0	0	0	0	0	0	1	10743	874	31	1		1	NRXN3	14	79933703	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186823	79933703	27415837	10688	34190											
DIO2	1734	broad.mit.edu	37	chr14	80669274	80669274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagaagctgctgggctgCtgcacatcgatcttcctggt	6	11	11	13	1	1	1	0	0	1	1	4	2	3	1	2	2	4	5	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669274C>T	ENST00000557010.1	-	4	965	c.580G>A	c.(580-582)Gca>Aca	p.A194T	DIO2_ENST00000555750.1_Missense_Mutation_p.A230T|DIO2_ENST00000557125.1_3'UTR|DIO2_ENST00000438257.4_Missense_Mutation_p.A194T|DIO2_ENST00000422005.3_3'UTR	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	194					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TGCTGGGCTGCTGCACATCGA	0.557											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	80669274	C	T	80669274	3	4	364	1	0	0	0	0	1	0	0	0	4564	797	28	2	245	2	DIO2	14	80669274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	735571	80669274	26680266	10689	34191											
DIO2	1734	broad.mit.edu	37	chr14	80669379	80669379	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgagcctcatcaatgtagaCcagcaggaagtcagccactg	13	7	10	11	0	3	2	3	1	0	1	3	3	3	3	3	1	3	2	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80669379C>T	ENST00000557125.1	-	2	98	c.99G>A	c.(97-99)tgG>tgA	p.W33*	DIO2_ENST00000557010.1_Missense_Mutation_p.V159I|DIO2_ENST00000555750.1_Missense_Mutation_p.V195I|DIO2_ENST00000438257.4_Missense_Mutation_p.V159I|DIO2_ENST00000422005.3_3'UTR			Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	0					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		TCAATGTAGACCAGCAGGAAG	0.542											OREG0022848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	80669379	C	T	80669379	4	4	364	1	0	0	0	0	0	1	0	0	4564	507	18	2	350	2	DIO2	14	80669379	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105	80669379	26680161	10690	34192											
DIO2	1734	broad.mit.edu	37	chr14	80677716	80677716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcaccacgtgcttgaGcagaatgaccgagtcataga	13	6	11	11	2	1	4	1	2	0	2	1	5	1	4	2	0	4	4	2	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:80677716G>A	ENST00000557010.1	-	3	485	c.100C>T	c.(100-102)Ctc>Ttc	p.L34F	DIO2_ENST00000555750.1_Missense_Mutation_p.L34F|DIO2_ENST00000557125.1_Intron|DIO2_ENST00000438257.4_Missense_Mutation_p.L34F|DIO2_ENST00000422005.3_Missense_Mutation_p.L34F	NM_000793.5|NM_001242502.1|NM_001242503.1	NP_000784.2|NP_001229431.1|NP_001229432.1	Q92813	IOD2_HUMAN	deiodinase, iodothyronine, type II	34					hormone biosynthetic process|selenocysteine incorporation|thyroid hormone generation	integral to membrane|plasma membrane	thyroxine 5'-deiodinase activity|ubiquitin protein ligase binding	p.L34I(2)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(14)|skin(1)|stomach(1)	25				BRCA - Breast invasive adenocarcinoma(234;0.0281)		ACGTGCTTGAGCAGAATGACC	0.562													A	80677716	G	A	80677716	3	1	364	1	0	0	0	0	1	0	0	0	4564	971	34	2	841	2	DIO2	14	80677716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8337	80677716	26671824	10691	34193											
TSHR	7253	broad.mit.edu	37	chr14	81422079	81422079	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcgacctgcccagggacCtgggcggaatggggtgttcg	5	8	17	11	3	0	0	0	0	0	0	2	3	0	2	3	5	2	2	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422079C>A	ENST00000541158.2	+	2	377	c.55C>A	c.(55-57)Ctg>Atg	p.L19M	TSHR_ENST00000554435.1_Missense_Mutation_p.L19M|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Missense_Mutation_p.L19M|TSHR_ENST00000554263.1_Missense_Mutation_p.L19M|TSHR_ENST00000342443.6_Missense_Mutation_p.L19M			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	19					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	GCCCAGGGACCTGGGCGGAAT	0.612			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						A	81422079	C	A	81422079	3	1	364	1	0	0	0	0	1	0	0	0	16723	680	24	4	57	4	TSHR	14	81422079	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	744363	81422079	25927461	10692	34194											
TSHR	7253	broad.mit.edu	37	chr14	81422108	81422108	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggggtgttcgtctccaccCtgcgagtgccatcaggagga	7	9	14	11	2	2	0	1	0	1	0	4	3	2	2	3	4	2	1	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81422108C>A	ENST00000541158.2	+	2	406	c.84C>A	c.(82-84)ccC>ccA	p.P28P	TSHR_ENST00000554435.1_Silent_p.P28P|TSHR_ENST00000557096.1_3'UTR|TSHR_ENST00000298171.2_Silent_p.P28P|TSHR_ENST00000554263.1_Silent_p.P28P|TSHR_ENST00000342443.6_Silent_p.P28P			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	28					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CGTCTCCACCCTGCGAGTGCC	0.622			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						A	81422108	C	A	81422108	2	1	364	1	0	0	0	0	0	0	0	1	16723	668	24	4		4	TSHR	14	81422108	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29	81422108	25927432	10693	34195											
TSHR	7253	broad.mit.edu	37	chr14	81606117	81606117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctggactcttaagaaaCttccactttccttgagtttc	10	14	5	12	0	1	2	0	1	1	1	4	3	3	3	3	1	1	1	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81606117C>T	ENST00000541158.2	+	10	1109	c.787C>T	c.(787-789)Ctt>Ttt	p.L263F	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.L263F			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	263					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	TCTTAAGAAACTTCCACTTTC	0.483			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						T	81606117	C	T	81606117	3	4	364	1	0	0	0	0	1	0	0	0	16723	565	20	2	958	2	TSHR	14	81606117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	184009	81606117	25743423	10694	34196											
STON2	85439	broad.mit.edu	37	chr14	81736941	81736941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagtaagcatggctaaaaGgaataagagggggagggtag	16	6	16	3	0	0	1	0	0	0	1	0	3	0	3	0	5	1	4	0	5	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81736941G>A	ENST00000267540.2	-	5	2886	c.2686C>T	c.(2686-2688)Ctt>Ttt	p.L896F	STON2_ENST00000555447.1_Intron	NM_033104.3	NP_149095.2	Q8WXE9	STON2_HUMAN	stonin 2	896					endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		ATGGCTAAAAGGAATAAGAGG	0.468													A	81736941	G	A	81736941	3	1	364	1	0	0	0	0	1	0	0	0	15414	1000	35	2	33	2	STON2	14	81736941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130824	81736941	25612599	10695	34197											
STON2	85439	broad.mit.edu	37	chr14	81737106	81737106	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgctggctttggaggcagAagttgtgggcatgctgaact	8	10	15	8	1	0	2	0	1	0	1	0	3	0	3	0	4	2	6	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81737106A>T	ENST00000555447.1	-	7	2933	c.2521T>A	c.(2521-2523)Tct>Act	p.S841T	STON2_ENST00000267540.2_Missense_Mutation_p.S841T	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	841	MHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		TTGGAGGCAGAAGTTGTGGGC	0.502													T	81737106	A	T	81737106	3	4	364	1	0	0	0	0	1	0	0	0	15414	246	9	5	198	5	STON2	14	81737106	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	165	81737106	25612434	10696	34198											
STON2	85439	broad.mit.edu	37	chr14	81744288	81744288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacagctgcaggtaaccaGtgtctgtcagtttgacgaag	12	10	11	8	1	2	1	1	1	1	0	2	2	2	1	1	1	4	4	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81744288G>A	ENST00000555447.1	-	6	1779	c.1367C>T	c.(1366-1368)aCt>aTt	p.T456I	STON2_ENST00000267540.2_Missense_Mutation_p.T456I	NM_001256430.1	NP_001243359.1	Q8WXE9	STON2_HUMAN	stonin 2	456	SHD.				endocytosis|intracellular protein transport|regulation of endocytosis	clathrin adaptor complex|nucleolus	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|pancreas(2)|prostate(1)|skin(5)	34				BRCA - Breast invasive adenocarcinoma(234;0.0348)		CAGGTAACCAGTGTCTGTCAG	0.502													A	81744288	G	A	81744288	3	1	364	1	0	0	0	0	1	0	0	0	15414	1029	36	2	1356	2	STON2	14	81744288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7182	81744288	25605252	10697	34199											
SEL1L	6400	broad.mit.edu	37	chr14	81945967	81945967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacttacgtttgtttcccGtatgtactgcaagaaataga	12	13	7	9	2	0	2	0	0	0	2	1	2	1	2	2	0	3	5	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81945967G>A	ENST00000336735.4	-	20	2280	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	722	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TTTGTTTCCCGTATGTACTGC	0.443													A	81945967	G	A	81945967	3	1	364	1	0	0	0	0	1	0	0	0	14103	1144	40	1	228	1	SEL1L	14	81945967	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201679	81945967	25403573	10698	34200											
SEL1L	6400	broad.mit.edu	37	chr14	81946082	81946082	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacgtttcgcaaggtgaatAtcctataatacaggtaagaa	17	10	8	6	2	0	2	0	1	0	1	2	2	1	2	1	2	2	3	1	2	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81946082A>G	ENST00000336735.4	-	20	2165	c.2049T>C	c.(2047-2049)gaT>gaC	p.D683D		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	683	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CAAGGTGAATATCCTATAATA	0.363													G	81946082	A	G	81946082	2	3	364	1	0	0	0	0	0	0	0	1	14103	446	16	3		3	SEL1L	14	81946082	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	115	81946082	25403458	10699	34201											
SEL1L	6400	broad.mit.edu	37	chr14	81970627	81970627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcttcctgcatctgccGtctcttagcagcctcttctt	3	17	6	15	1	5	0	0	0	5	0	7	0	6	0	3	0	5	3	3	0	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:81970627G>A	ENST00000336735.4	-	5	648	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	SEL1L_ENST00000555824.1_Missense_Mutation_p.R178W	NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	178	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		TGCATCTGCCGTCTCTTAGCA	0.353													A	81970627	G	A	81970627	3	1	364	1	0	0	0	0	1	0	0	0	14103	1144	40	1	1920	1	SEL1L	14	81970627	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24545	81970627	25378913	10700	34202											
FLRT2	23768	broad.mit.edu	37	chr14	86087934	86087934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttatcatttccctggggCtctactcacaggtgtccaaa	8	12	9	12	0	3	0	2	0	1	0	5	0	5	0	2	4	1	2	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86087934C>T	ENST00000330753.4	+	2	843	c.76C>T	c.(76-78)Ctc>Ttc	p.L26F	FLRT2_ENST00000554746.1_Missense_Mutation_p.L26F	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	26					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TTCCCTGGGGCTCTACTCACA	0.507													T	86087934	C	T	86087934	3	4	364	1	0	0	0	0	1	0	0	0	5988	797	28	2	78	2	FLRT2	14	86087934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4117307	86087934	21261606	10701	34203											
FLRT2	23768	broad.mit.edu	37	chr14	86088012	86088012	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttgtctactgtaatgagCgaagcttgacctcagtgcct	9	13	9	10	1	2	2	1	2	1	0	2	3	2	2	2	0	4	2	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088012C>T	ENST00000330753.4	+	2	921	c.154C>T	c.(154-156)Cga>Tga	p.R52*	FLRT2_ENST00000554746.1_Nonsense_Mutation_p.R52*	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	52	LRRNT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CTGTAATGAGCGAAGCTTGAC	0.512													T	86088012	C	T	86088012	4	4	364	1	0	0	0	0	0	1	0	0	5988	760	27	1	156	1	FLRT2	14	86088012	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78	86088012	21261528	10702	34204											
FLRT2	23768	broad.mit.edu	37	chr14	86088857	86088857	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatatcccttcatctctcaaCgtgcggggtttcatgtgcca	7	14	8	12	2	4	0	3	0	1	0	6	0	5	0	2	2	3	1	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:86088857C>T	ENST00000330753.4	+	2	1766	c.999C>T	c.(997-999)aaC>aaT	p.N333N	FLRT2_ENST00000554746.1_Silent_p.N333N	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	333	LRRCT.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		CATCTCTCAACGTGCGGGGTT	0.507													T	86088857	C	T	86088857	2	4	364	1	0	0	0	0	0	0	0	1	5988	535	19	1		1	FLRT2	14	86088857	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	845	86088857	21260683	10703	34205											
GPR65	8477	broad.mit.edu	37	chr14	88477671	88477671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacagttgttgaatattgCgatgccgaaaagtctaattt	14	13	9	5	2	1	1	0	1	1	0	1	4	1	1	1	0	3	2	1	0	6	6	rs139775422	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88477671C>T	ENST00000267549.3	+	2	1038	c.480C>T	c.(478-480)tgC>tgT	p.C160C	RP11-300J18.2_ENST00000554433.1_RNA	NM_003608.3	NP_003599.2	Q8IYL9	PSYR_HUMAN	G protein-coupled receptor 65	160					actin cytoskeleton reorganization|activation of Rho GTPase activity|apoptosis|immune response|multicellular organismal development|positive regulation of cAMP biosynthetic process|positive regulation of stress fiber assembly|response to acidity	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|prostate(1)	16						TTGAATATTGCGATGCCGAAA	0.398													T	88477671	C	T	88477671	2	4	364	1	0	0	0	0	0	0	0	1	6760	776	27	1		1	GPR65	14	88477671	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2388814	88477671	18871869	10704	34206											
KCNK10	54207	broad.mit.edu	37	chr14	88729675	88729675	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccggaagacaagaccGccagtgacaaggtagaccac	15	3	11	12	2	0	4	0	1	0	3	0	5	0	5	4	2	1	1	4	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88729675G>A	ENST00000340700.5	-	2	709	c.258C>T	c.(256-258)ggC>ggT	p.G86G	KCNK10_ENST00000312350.5_Silent_p.G91G|KCNK10_ENST00000319231.5_Silent_p.G91G	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	86					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						AGACAAGACCGCCAGTGACAA	0.562													A	88729675	G	A	88729675	2	1	364	1	0	0	0	0	0	0	0	1	8117	1074	38	1		1	KCNK10	14	88729675	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	252004	88729675	18619865	10705	34207											
KCNK10	54207	broad.mit.edu	37	chr14	88792790	88792791	+	Frame_Shift_Ins	INS	-	-	A																															agaaagaagtctgtgtagagINSaaaaaacatccaagaaagat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88792790_88792791insA	ENST00000340700.5	-	1	460_461	c.9_10insT	c.(7-12)tttctcfs	p.L4fs		NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	4					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						TCTGTGTAGAGAAAAAACATCC	0.5													A	88792791	-	A	88792790	7	5	364	1	0	1	1	0	0	0	0	0	8117	942	33	0	1746	0	KCNK10	14	88792790	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	63115	88792790	18556750	10706	34208											
PTPN21	11099	broad.mit.edu	37	chr14	88967684	88967684	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctacctcctgcatgtacaGcatttcagcatcaggagctg	9	11	8	13	0	3	0	2	0	1	0	4	1	4	1	2	1	6	5	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:88967684G>A	ENST00000556564.1	-	7	900	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Silent_p.L206L|RP11-507K2.2_ENST00000555444.1_RNA	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	206	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGCATGTACAGCATTTCAGCA	0.443													A	88967684	G	A	88967684	2	1	364	1	0	0	0	0	0	0	0	1	12874	962	34	2		2	PTPN21	14	88967684	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174894	88967684	18381856	10707	34209											
ZC3H14	79882	broad.mit.edu	37	chr14	89034493	89034493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaacacaattcgattcaccGtatggtatgtttctgaattt	12	15	6	8	2	2	1	1	1	1	0	3	2	2	1	1	1	1	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89034493G>A	ENST00000251038.5	+	3	415	c.190G>A	c.(190-192)Gta>Ata	p.V64I	ZC3H14_ENST00000557607.1_Intron|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000336693.4_Missense_Mutation_p.V30I|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V64I|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V64I|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V64I|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V30I	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	64						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TCGATTCACCGTATGGTATGT	0.423													A	89034493	G	A	89034493	3	1	364	1	0	0	0	0	1	0	0	0	17667	1145	40	1	200	1	ZC3H14	14	89034493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66809	89034493	18315047	10708	34210											
ZC3H14	79882	broad.mit.edu	37	chr14	89038558	89038558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcgcaggagtcaaaaacCacaaatgtcaggtaagagtc	16	7	10	8	1	2	1	2	0	0	1	4	2	2	2	1	2	1	3	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89038558C>T	ENST00000251038.5	+	5	645	c.420C>T	c.(418-420)acC>acT	p.T140T	ZC3H14_ENST00000557607.1_5'UTR|ZC3H14_ENST00000556945.1_Silent_p.T140T|ZC3H14_ENST00000336693.4_Silent_p.T106T|ZC3H14_ENST00000555755.1_Silent_p.T140T|ZC3H14_ENST00000393514.5_Silent_p.T140T|ZC3H14_ENST00000302216.8_Silent_p.T140T|ZC3H14_ENST00000359301.3_Silent_p.T106T	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	140						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						AGTCAAAAACCACAAATGTCA	0.448													T	89038558	C	T	89038558	2	4	364	1	0	0	0	0	0	0	0	1	17667	581	21	2		2	ZC3H14	14	89038558	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4065	89038558	18310982	10709	34211											
ZC3H14	79882	broad.mit.edu	37	chr14	89039186	89039186	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgttcatttaaacaggttGcaatttcaacagcagcagaa	14	11	9	7	0	2	1	2	0	0	1	2	1	2	1	0	2	5	5	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89039186G>A	ENST00000251038.5	+	6	921	c.696G>A	c.(694-696)ttG>ttA	p.L232L	ZC3H14_ENST00000557607.1_Silent_p.L77L|ZC3H14_ENST00000556945.1_Silent_p.L232L|ZC3H14_ENST00000336693.4_Silent_p.L198L|ZC3H14_ENST00000555755.1_Silent_p.L232L|ZC3H14_ENST00000393514.5_Silent_p.L232L|ZC3H14_ENST00000302216.8_Silent_p.L232L|ZC3H14_ENST00000359301.3_Silent_p.L198L	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	232						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						TAAACAGGTTGCAATTTCAAC	0.418													A	89039186	G	A	89039186	2	1	364	1	0	0	0	0	0	0	0	1	17667	1310	46	2		2	ZC3H14	14	89039186	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	628	89039186	18310354	10710	34212											
EML5	161436	broad.mit.edu	37	chr14	89083115	89083115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataacttaaccatgccaaaGtcatctcctgtaacaagact	16	10	4	11	0	2	1	1	0	1	1	3	1	2	1	3	0	4	1	3	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:89083115G>T	ENST00000554922.1	-	42	5999	c.5751C>A	c.(5749-5751)gaC>gaA	p.D1917E	EML5_ENST00000352093.5_Missense_Mutation_p.D1871E|EML5_ENST00000380664.5_Missense_Mutation_p.D1909E	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1909						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCATGCCAAAGTCATCTCCTG	0.373													T	89083115	G	T	89083115	3	4	364	1	0	0	0	0	1	0	0	0	5141	1020	36	4	194	4	EML5	14	89083115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43929	89083115	18266425	10711	34213											
TTC7B	145567	broad.mit.edu	37	chr14	91155895	91155895	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcatacttctctcctgaGtagacacgggctctccgagt	7	13	8	13	2	3	2	1	1	2	1	6	3	4	2	2	1	1	2	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91155895G>A	ENST00000357056.2	-	7	1060	c.939C>T	c.(937-939)taC>taT	p.Y313Y	TTC7B_ENST00000328459.6_Silent_p.Y313Y			Q86TV6	TTC7B_HUMAN	tetratricopeptide repeat domain 7B	313							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)				TCTCTCCTGAGTAGACACGGG	0.483													A	91155895	G	A	91155895	2	1	364	1	0	0	0	0	0	0	0	1	16815	1024	36	2		2	TTC7B	14	91155895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2072780	91155895	16193645	10712	34214											
RPS6KA5	9252	broad.mit.edu	37	chr14	91386579	91386579	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcttgggaatttttttcTccatcaacagtgaaaggaga	12	13	9	7	0	3	2	2	1	1	1	4	4	3	3	1	2	2	1	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91386579T>A	ENST00000261991.3	-	7	950	c.777A>T	c.(775-777)ggA>ggT	p.G259G	RPS6KA5_ENST00000536315.2_Silent_p.G180G|RPS6KA5_ENST00000418736.2_Silent_p.G259G	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	259	Protein kinase 1.				axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		AATTTTTTTCTCCATCAACAG	0.343													A	91386579	T	A	91386579	2	1	364	1	0	0	0	0	0	0	0	1	13745	1538	54	5		5	RPS6KA5	14	91386579	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	230684	91386579	15962961	10713	34215											
C14orf159	80017	broad.mit.edu	37	chr14	91655379	91655379	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaatcatgagcctccaGaagagacagatggcccacca	14	7	8	12	0	2	4	2	1	0	3	3	5	3	4	4	1	1	0	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91655379G>T	ENST00000518868.1	+	12	1750	c.1060G>T	c.(1060-1062)Gaa>Taa	p.E354*	C14orf159_ENST00000522322.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000523816.1_Nonsense_Mutation_p.E349*|C14orf159_ENST00000256324.10_Nonsense_Mutation_p.E354*|C14orf159_ENST00000525393.2_Nonsense_Mutation_p.E225*|C14orf159_ENST00000520328.1_Nonsense_Mutation_p.E337*|C14orf159_ENST00000428926.2_Nonsense_Mutation_p.E349*|C14orf159_ENST00000521077.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000412671.2_Nonsense_Mutation_p.E354*|C14orf159_ENST00000523771.1_Nonsense_Mutation_p.E349*			Q7Z3D6	CN159_HUMAN	chromosome 14 open reading frame 159	349						mitochondrion				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0191)|all_epithelial(191;0.241)		Epithelial(152;0.141)|OV - Ovarian serous cystadenocarcinoma(161;0.207)		TGAGCCTCCAGAAGAGACAGA	0.557													T	91655379	G	T	91655379	4	4	364	1	0	0	0	0	0	1	0	0	1768	943	33	4	1086	4	C14orf159	14	91655379	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	268800	91655379	15694161	10714	34216											
CCDC88C	440193	broad.mit.edu	37	chr14	91776271	91776271	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgaccttctccagttcctgGctcagcttgtccagctcact	5	12	7	17	1	3	0	2	0	1	0	6	1	5	0	5	1	2	4	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91776271G>T	ENST00000389857.6	-	16	2882	c.2796C>A	c.(2794-2796)agC>agA	p.S932R		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	932					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CCAGTTCCTGGCTCAGCTTGT	0.602													T	91776271	G	T	91776271	3	4	364	1	0	0	0	0	1	0	0	0	2893	1194	42	4	3350	4	CCDC88C	14	91776271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120892	91776271	15573269	10715	34217											
CCDC88C	440193	broad.mit.edu	37	chr14	91779811	91779811	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctcactctccaaggtCtgcgtcttgtggctgctgct	4	12	10	15	1	4	0	1	0	3	0	5	0	4	0	2	2	4	4	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91779811C>A	ENST00000389857.6	-	15	2435	c.2349G>T	c.(2347-2349)caG>caT	p.Q783H		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	783					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TCTCCAAGGTCTGCGTCTTGT	0.677													A	91779811	C	A	91779811	3	1	364	1	0	0	0	0	1	0	0	0	2893	912	32	4	3801	4	CCDC88C	14	91779811	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3540	91779811	15569729	10716	34218											
CCDC88C	440193	broad.mit.edu	37	chr14	91780360	91780360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcttgccattggcctcCgtcaccgtctggtggagggc	4	10	14	13	2	2	1	1	1	1	0	3	2	3	2	4	4	2	1	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91780360C>T	ENST00000389857.6	-	15	1886	c.1800G>A	c.(1798-1800)acG>acA	p.T600T		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	600					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CATTGGCCTCCGTCACCGTCT	0.622													T	91780360	C	T	91780360	2	4	364	1	0	0	0	0	0	0	0	1	2893	639	23	1		1	CCDC88C	14	91780360	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	549	91780360	15569180	10717	34219											
SMEK1	55671	broad.mit.edu	37	chr14	91927861	91927861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctggtgaggttagtcttcGttccactggacagggaaagc	8	10	15	8	1	1	1	0	1	1	0	3	3	2	3	1	5	1	3	1	5	2	3	rs141774507		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91927861G>A	ENST00000554684.1	-	14	2712	c.2216C>T	c.(2215-2217)aCg>aTg	p.T739M	SMEK1_ENST00000555718.1_5'UTR|SMEK1_ENST00000555462.1_Missense_Mutation_p.T513M|SMEK1_ENST00000337238.4_Missense_Mutation_p.T739M|SMEK1_ENST00000428424.2_Missense_Mutation_p.T513M|SMEK1_ENST00000554943.1_Missense_Mutation_p.T752M	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	752						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GTTAGTCTTCGTTCCACTGGA	0.488													A	91927861	G	A	91927861	3	1	364	1	0	0	0	0	1	0	0	0	14887	1145	40	1	254	1	SMEK1	14	91927861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147501	91927861	15421679	10718	34220											
SMEK1	55671	broad.mit.edu	37	chr14	91937205	91937205	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaagaaagcatgcttcgAggccataagaactagcactc	14	7	9	11	1	0	2	0	0	0	2	2	3	0	2	2	1	5	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91937205A>G	ENST00000554684.1	-	10	2093	c.1597T>C	c.(1597-1599)Tcg>Ccg	p.S533P	SMEK1_ENST00000555462.1_Missense_Mutation_p.S307P|SMEK1_ENST00000337238.4_Missense_Mutation_p.S533P|SMEK1_ENST00000428424.2_Missense_Mutation_p.S307P|SMEK1_ENST00000554943.1_Missense_Mutation_p.S546P	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	546						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GCATGCTTCGAGGCCATAAGA	0.333													G	91937205	A	G	91937205	3	3	364	1	0	0	0	0	1	0	0	0	14887	304	11	3	889	3	SMEK1	14	91937205	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9344	91937205	15412335	10719	34221											
SMEK1	55671	broad.mit.edu	37	chr14	91947962	91947962	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accttattgaaaaagataaaAgagtgaagtgttgataacat	19	11	8	3	0	0	5	0	3	0	2	0	5	0	5	1	0	1	1	1	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91947962A>C	ENST00000554684.1	-	4	1369	c.873T>G	c.(871-873)tcT>tcG	p.S291S	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Silent_p.S291S|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Silent_p.S291S	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	291						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		AAAAGATAAAAGAGTGAAGTG	0.338													C	91947962	A	C	91947962	2	2	364	1	0	0	0	0	0	0	0	1	14887	59	3	5		5	SMEK1	14	91947962	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10757	91947962	15401578	10720	34222											
SMEK1	55671	broad.mit.edu	37	chr14	91948197	91948197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccattatacattcttcaGagaacataacttcaaaaaga	17	11	4	9	1	3	2	2	0	1	2	4	3	4	2	1	0	3	0	1	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:91948197G>A	ENST00000554684.1	-	4	1134	c.638C>T	c.(637-639)tCt>tTt	p.S213F	SMEK1_ENST00000555462.1_Intron|SMEK1_ENST00000337238.4_Missense_Mutation_p.S213F|SMEK1_ENST00000428424.2_Intron|SMEK1_ENST00000554943.1_Missense_Mutation_p.S213F	NM_001284280.1	NP_001271209.1	Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	213						microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		ACATTCTTCAGAGAACATAAC	0.348													A	91948197	G	A	91948197	3	1	364	1	0	0	0	0	1	0	0	0	14887	942	33	2	1872	2	SMEK1	14	91948197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235	91948197	15401343	10721	34223											
FBLN5	10516	broad.mit.edu	37	chr14	92353550	92353550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattaccactgcaatgaacGccatcttcctcaagttcata	12	11	4	14	1	3	1	2	1	1	0	4	1	4	1	4	0	3	2	4	0	5	4	rs148209555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92353550G>A	ENST00000267620.10	-	8	1018	c.849C>T	c.(847-849)ggC>ggT	p.G283G	FBLN5_ENST00000342058.4_Silent_p.G242G|FBLN5_ENST00000556154.1_Silent_p.G247G			Q9UBX5	FBLN5_HUMAN	fibulin 5	242	EGF-like 5; calcium-binding (Potential).				cell-matrix adhesion|elastic fiber assembly|protein localization at cell surface|regulation of removal of superoxide radicals	extracellular space|proteinaceous extracellular matrix|soluble fraction	calcium ion binding|integrin binding|protein C-terminus binding	p.G242G(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	28		all_cancers(154;0.0722)				TGCAATGAACGCCATCTTCCT	0.547													A	92353550	G	A	92353550	2	1	364	1	0	0	0	0	0	0	0	1	5749	1074	38	1		1	FBLN5	14	92353550	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405353	92353550	14995990	10722	34224											
TRIP11	9321	broad.mit.edu	37	chr14	92436087	92436087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcaaaggtgtaaatGtgggcaaaacatctgagatg	14	8	13	6	1	1	1	0	1	1	1	1	2	1	1	0	3	1	4	0	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92436087G>A	ENST00000267622.4	-	21	6243	c.5870C>T	c.(5869-5871)aCa>aTa	p.T1957I		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1957					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AGGTGTAAATGTGGGCAAAAC	0.502			T	PDGFRB	AML								A	92436087	G	A	92436087	3	1	364	1	0	0	0	0	1	0	0	0	16656	1377	48	2	73	2	TRIP11	14	92436087	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82537	92436087	14913453	10723	34225											
TRIP11	9321	broad.mit.edu	37	chr14	92470569	92470569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcaaccaaaacctgtgCttgaagttggtgaagctctt	11	12	9	9	0	2	2	1	2	1	0	2	2	2	2	2	1	4	3	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92470569C>A	ENST00000267622.4	-	11	4124	c.3751G>T	c.(3751-3753)Gca>Tca	p.A1251S		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1251					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		AAAACCTGTGCTTGAAGTTGG	0.398			T	PDGFRB	AML								A	92470569	C	A	92470569	3	1	364	1	0	0	0	0	1	0	0	0	16656	797	28	4	2232	4	TRIP11	14	92470569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34482	92470569	14878971	10724	34226											
TRIP11	9321	broad.mit.edu	37	chr14	92471958	92471958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtccttagtttctttatggtCagtatccatttgttcaatat	8	20	6	7	0	3	0	2	0	1	0	5	0	5	0	2	1	0	3	2	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:92471958C>T	ENST00000267622.4	-	11	2735	c.2362G>A	c.(2362-2364)Gac>Aac	p.D788N		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	788					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TCTTTATGGTCAGTATCCATT	0.318			T	PDGFRB	AML								T	92471958	C	T	92471958	3	4	364	1	0	0	0	0	1	0	0	0	16656	826	29	2	3621	2	TRIP11	14	92471958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1389	92471958	14877582	10725	34227											
RIN3	79890	broad.mit.edu	37	chr14	93118183	93118183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcacgccctttgccGcccacctctgatgccacctc	4	9	7	21	2	1	1	0	1	1	0	2	1	1	1	7	0	4	1	7	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93118183G>A	ENST00000216487.7	+	6	948	c.789G>A	c.(787-789)ccG>ccA	p.P263P	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	263	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GCCCTTTGCCGCCCACCTCTG	0.672													A	93118183	G	A	93118183	2	1	364	1	0	0	0	0	0	0	0	1	13464	1074	38	1		1	RIN3	14	93118183	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	646225	93118183	14231357	10726	34228											
LGMN	5641	broad.mit.edu	37	chr14	93185138	93185138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcatcacaacgatctgttCgtcaggaatcccattgcggt	10	11	8	12	3	4	0	3	0	1	0	6	2	5	1	1	2	2	1	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93185138C>T	ENST00000393218.2	-	4	527	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	LGMN_ENST00000555699.1_Missense_Mutation_p.E64K|LGMN_ENST00000334869.4_Missense_Mutation_p.E64K|LGMN_ENST00000557434.1_Missense_Mutation_p.E64K	NM_001008530.2	NP_001008530.1	Q99538	LGMN_HUMAN	legumain	64					hormone biosynthetic process|negative regulation of neuron apoptosis|vitamin D metabolic process	lysosome	cysteine-type endopeptidase activity|protein serine/threonine kinase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(5)|skin(2)	18		all_cancers(154;0.0706)		COAD - Colon adenocarcinoma(157;0.224)		ACGATCTGTTCGTCAGGAATC	0.468													T	93185138	C	T	93185138	3	4	364	1	0	0	0	0	1	0	0	0	8815	893	31	1	1159	1	LGMN	14	93185138	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66955	93185138	14164402	10727	34229											
GOLGA5	9950	broad.mit.edu	37	chr14	93276605	93276605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattttcctttagaataatGcaggatcaaagtgaaggtaa	15	12	9	5	0	1	2	1	1	0	1	2	3	2	3	1	2	1	3	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93276605G>A	ENST00000163416.2	+	5	1255	c.999G>A	c.(997-999)atG>atA	p.M333I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.M333I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	333					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		TTAGAATAATGCAGGATCAAA	0.423			T	RET	papillary thyroid								A	93276605	G	A	93276605	3	1	364	1	0	0	0	0	1	0	0	0	6612	1319	46	2	1013	2	GOLGA5	14	93276605	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91467	93276605	14072935	10728	34230											
ITPK1	3705	broad.mit.edu	37	chr14	93408082	93408082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagcagccggggctggCgctgcatgtccgctcgccca	4	5	15	17	5	0	0	0	0	0	0	2	0	1	0	4	3	3	6	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93408082C>T	ENST00000267615.6	-	11	1242	c.1069G>A	c.(1069-1071)Gcc>Acc	p.A357T	ITPK1_ENST00000354313.3_Intron|ITPK1_ENST00000556603.2_Missense_Mutation_p.A357T|ITPK1_ENST00000555495.1_Missense_Mutation_p.A238T			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	357					blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CCGGGGCTGGCGCTGCATGTC	0.736													T	93408082	C	T	93408082	3	4	364	1	0	0	0	0	1	0	0	0	7974	768	27	1	227	1	ITPK1	14	93408082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131477	93408082	13941458	10729	34231											
ITPK1	3705	broad.mit.edu	37	chr14	93429188	93429188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggtggcgagcagatcCtgtcgtctagggcagaaggg	9	7	18	7	2	1	3	0	1	1	2	3	4	2	3	1	4	1	2	1	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:93429188C>A	ENST00000267615.6	-	6	544	c.371G>T	c.(370-372)aGg>aTg	p.R124M	ITPK1_ENST00000556954.1_5'UTR|ITPK1_ENST00000354313.3_Missense_Mutation_p.R124M|ITPK1_ENST00000556603.2_Missense_Mutation_p.R124M|ITPK1_ENST00000555495.1_Missense_Mutation_p.R5M			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase	124	ATP-grasp.				blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		CGAGCAGATCCTGTCGTCTAG	0.647													A	93429188	C	A	93429188	3	1	364	1	0	0	0	0	1	0	0	0	7974	681	24	4	945	4	ITPK1	14	93429188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21106	93429188	13920352	10730	34232											
DDX24	57062	broad.mit.edu	37	chr14	94528948	94528948	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcattgggatggcaaaGgcaagagttttcccacttcc	11	11	10	9	0	1	2	1	1	0	1	3	3	3	3	2	3	0	3	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94528948G>T	ENST00000330836.5	-	3	869	c.738C>A	c.(736-738)gcC>gcA	p.A246A	DDX24_ENST00000555054.1_Silent_p.A203A|DDX24_ENST00000544005.1_5'UTR	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	246	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		GGATGGCAAAGGCAAGAGTTT	0.423													T	94528948	G	T	94528948	2	4	364	1	0	0	0	0	0	0	0	1	4385	987	35	4		4	DDX24	14	94528948	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1099760	94528948	12820592	10731	34233											
DDX24	57062	broad.mit.edu	37	chr14	94545559	94545559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcaggaatccatgtcttcGcttttttgggcaccttggca	6	15	9	11	1	2	0	1	0	1	0	4	1	3	1	2	3	0	3	2	3	1	6	rs145620061	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94545559G>A	ENST00000330836.5	-	2	661	c.530C>T	c.(529-531)gCg>gTg	p.A177V	DDX24_ENST00000555054.1_Missense_Mutation_p.A134V|DDX24_ENST00000544005.1_Intron	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	177					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CCATGTCTTCGCTTTTTTGGG	0.468													A	94545559	G	A	94545559	3	1	364	1	0	0	0	0	1	0	0	0	4385	1087	38	1	2081	1	DDX24	14	94545559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16611	94545559	12803981	10732	34234											
SERPINA11	256394	broad.mit.edu	37	chr14	94914738	94914738	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggctgggcagggcaaggGtgtggaggaggctccggaag	7	5	23	6	1	0	0	0	0	0	0	1	3	1	3	1	9	0	4	1	9	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914738G>T	ENST00000334708.3	-	2	438	c.374C>A	c.(373-375)aCc>aAc	p.T125N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	125					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		CAGGGCAAGGGTGTGGAGGAG	0.557													T	94914738	G	T	94914738	3	4	364	1	0	0	0	0	1	0	0	0	14181	1261	44	4	910	4	SERPINA11	14	94914738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369179	94914738	12434802	10733	34235											
SERPINA11	256394	broad.mit.edu	37	chr14	94914893	94914893	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcactggcgagaagaaGatgtttccgggggcgtctgc	8	9	15	9	3	2	3	1	0	1	3	3	4	3	3	1	3	2	2	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94914893G>T	ENST00000334708.3	-	2	283	c.219C>A	c.(217-219)atC>atA	p.I73I	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	73					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		GCGAGAAGAAGATGTTTCCGG	0.567													T	94914893	G	T	94914893	2	4	364	1	0	0	0	0	0	0	0	1	14181	932	33	4		4	SERPINA11	14	94914893	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155	94914893	12434647	10734	34236											
SERPINA12	145264	broad.mit.edu	37	chr14	94964255	94964255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagttggtaaggatggtttcGgcactgtaaaagttcttggc	10	13	13	5	1	1	0	0	0	1	0	2	1	1	1	0	5	0	6	0	5	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964255G>A	ENST00000341228.2	-	3	1275	c.480C>T	c.(478-480)gcC>gcT	p.A160A	SERPINA12_ENST00000556881.1_Silent_p.A160A	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	160					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	p.A160A(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GGATGGTTTCGGCACTGTAAA	0.443													A	94964255	G	A	94964255	2	1	364	1	0	0	0	0	0	0	0	1	14182	1103	39	1		1	SERPINA12	14	94964255	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49362	94964255	12385285	10735	34237											
SERPINA12	145264	broad.mit.edu	37	chr14	94964601	94964601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgccttgcaagctccttgGctgccatcctttgcttccat	4	15	7	15	0	1	0	0	0	1	0	4	0	4	0	5	1	5	4	5	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:94964601G>A	ENST00000341228.2	-	3	929	c.134C>T	c.(133-135)gCc>gTc	p.A45V	SERPINA12_ENST00000556881.1_Missense_Mutation_p.A45V	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	45					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		AAGCTCCTTGGCTGCCATCCT	0.502													A	94964601	G	A	94964601	3	1	364	1	0	0	0	0	1	0	0	0	14182	1203	42	2	1126	2	SERPINA12	14	94964601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	346	94964601	12384939	10736	34238											
SERPINA4	5267	broad.mit.edu	37	chr14	95033320	95033320	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcagccctgtgggagaaAccattcatttcctcaaggac	10	10	8	13	0	3	1	3	0	0	1	4	3	4	2	4	2	2	0	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95033320A>T	ENST00000557004.1	+	3	1084	c.663A>T	c.(661-663)aaA>aaT	p.K221N	SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000298841.5_Missense_Mutation_p.K221N|SERPINA4_ENST00000555095.1_Missense_Mutation_p.K221N			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	221					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		TGTGGGAGAAACCATTCATTT	0.522													T	95033320	A	T	95033320	3	4	364	1	0	0	0	0	1	0	0	0	14184	40	2	5	669	5	SERPINA4	14	95033320	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68719	95033320	12316220	10737	34239											
SERPINA3	12	broad.mit.edu	37	chr14	95080923	95080923	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggacacacgtggacctcggaTtagcctccgccaacgtggac	9	6	12	14	4	0	0	0	0	0	0	2	4	1	4	4	4	2	0	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95080923T>A	ENST00000467132.1	+	2	1293	c.145T>A	c.(145-147)Tta>Ata	p.L49I	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393080.4_Missense_Mutation_p.L49I|SERPINA3_ENST00000393078.3_Missense_Mutation_p.L49I			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	49					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		GGACCTCGGATTAGCCTCCGC	0.562													A	95080923	T	A	95080923	3	1	364	1	0	0	0	0	1	0	0	0	14183	1490	52	5	147	5	SERPINA3	14	95080923	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	47603	95080923	12268617	10738	34240											
SERPINA3	12	broad.mit.edu	37	chr14	95088767	95088767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagctgggcattgaggaagCcttcaccagcaaggctgacc	10	6	12	13	0	1	2	1	2	0	0	1	3	1	3	4	3	3	4	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95088767C>T	ENST00000467132.1	+	4	2155	c.1007C>T	c.(1006-1008)gCc>gTc	p.A336V	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.A118V|SERPINA3_ENST00000393080.4_Missense_Mutation_p.A336V|SERPINA3_ENST00000393078.3_Missense_Mutation_p.A336V			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	336					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ATTGAGGAAGCCTTCACCAGC	0.502													T	95088767	C	T	95088767	3	4	364	1	0	0	0	0	1	0	0	0	14183	739	26	2	1017	2	SERPINA3	14	95088767	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7844	95088767	12260773	10739	34241											
DICER1	23405	broad.mit.edu	37	chr14	95560464	95560464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtagtccaaaatcgcatCtcccaggaattctaagcgct	12	9	9	11	2	2	0	0	0	2	0	5	2	3	1	2	2	1	3	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95560464C>T	ENST00000526495.1	-	26	5416	c.5125G>A	c.(5125-5127)Gat>Aat	p.D1709N	DICER1_ENST00000541352.1_Missense_Mutation_p.D1709N|DICER1_ENST00000393063.1_Missense_Mutation_p.D1709N|DICER1_ENST00000527414.1_Missense_Mutation_p.D1709N|DICER1_ENST00000556045.1_Missense_Mutation_p.D607N|DICER1_ENST00000343455.3_Missense_Mutation_p.D1709N			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	1709	RNase III 2.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity	p.D1709N(1)		NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		AAAATCGCATCTCCCAGGAAT	0.527			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				T	95560464	C	T	95560464	3	4	364	1	0	0	0	0	1	0	0	0	4560	913	32	2	659	2	DICER1	14	95560464	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	471697	95560464	11789076	10740	34242											
DICER1	23405	broad.mit.edu	37	chr14	95577792	95577792	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaatggtcatccagttcGcctaacaaatttaaagagag	16	10	7	8	1	2	1	2	0	0	1	4	2	3	1	2	1	1	1	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95577792G>A	ENST00000526495.1	-	16	2409	c.2118C>T	c.(2116-2118)ggC>ggT	p.G706G	DICER1_ENST00000541352.1_Splice_Site_p.G706G|DICER1_ENST00000393063.1_Splice_Site_p.G706G|DICER1_ENST00000527414.1_Splice_Site_p.G706G|DICER1_ENST00000343455.3_Splice_Site_p.G706G			Q9UPY3	DICER_HUMAN	dicer 1, ribonuclease type III	706	Dicer dsRNA-binding fold.				negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|nerve development|neuron projection morphogenesis|peripheral nervous system myelin formation|positive regulation of myelination|positive regulation of Schwann cell differentiation|pre-miRNA processing|production of siRNA involved in RNA interference|targeting of mRNA for destruction involved in RNA interference	cytosol|RNA-induced silencing complex	ATP binding|ATP-dependent helicase activity|double-stranded RNA binding|metal ion binding|protein binding|ribonuclease III activity			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(13)|kidney(3)|large_intestine(10)|lung(33)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	75		all_cancers(154;0.0621)|all_epithelial(191;0.223)		Epithelial(152;0.211)|COAD - Colon adenocarcinoma(157;0.215)		CATCCAGTTCGCCTAACAAAT	0.368			"Mis F, N"		"sex cord-stromal tumour, TGCT, embryonal rhadomyosarcoma"	pleuropulmonary blastoma			Familial Multinodular Goiter ;DICER 1 syndrome				A	95577792	G	A	95577792	5	1	364	1	0	0	0	0	0	0	1	0	4560	1101	38	1	3706	1	DICER1	14	95577792	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17328	95577792	11771748	10741	34243											
CLMN	79789	broad.mit.edu	37	chr14	95669561	95669561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggtggggagggcttgaaatCcaggccttcttcgctgtgac	6	10	16	9	1	1	2	0	2	1	0	3	3	2	3	2	5	0	2	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95669561C>T	ENST00000298912.4	-	9	2238	c.2125G>A	c.(2125-2127)Gat>Aat	p.D709N		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	709						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		GGCTTGAAATCCAGGCCTTCT	0.567													T	95669561	C	T	95669561	3	4	364	1	0	0	0	0	1	0	0	0	3573	855	30	2	903	2	CLMN	14	95669561	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91769	95669561	11679979	10742	34244											
CLMN	79789	broad.mit.edu	37	chr14	95670713	95670713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttcagtcagaacgaagaCtttgctctcctgttcagaag	11	13	8	9	1	4	3	3	0	1	3	5	4	4	3	1	0	2	2	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:95670713C>T	ENST00000298912.4	-	9	1086	c.973G>A	c.(973-975)Gtc>Atc	p.V325I		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	325						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGAACGAAGACTTTGCTCTCC	0.433													T	95670713	C	T	95670713	3	4	364	1	0	0	0	0	1	0	0	0	3573	565	20	2	2055	2	CLMN	14	95670713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1152	95670713	11678827	10743	34245											
TCL1A	8115	broad.mit.edu	37	chr14	96178700	96178700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacgacgtcttcccgacGcaagagcacccgtaactgta	11	6	10	14	5	1	1	0	0	1	1	2	4	2	2	2	1	2	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96178700G>A	ENST00000402399.1	-	2	283	c.154C>T	c.(154-156)Cgt>Tgt	p.R52C	RP11-164H13.1_ENST00000547644.2_RNA|TCL1A_ENST00000554012.1_Missense_Mutation_p.R52C|TCL1A_ENST00000556450.1_Missense_Mutation_p.R52C|RP11-164H13.1_ENST00000553445.1_RNA|TCL1A_ENST00000555202.1_Missense_Mutation_p.R52C	NM_021966.2	NP_068801.1	P56279	TCL1A_HUMAN	T-cell leukemia/lymphoma 1A	52					multicellular organismal development	endoplasmic reticulum|microsome				haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)	12		all_cancers(154;0.103)		COAD - Colon adenocarcinoma(157;0.205)|Epithelial(152;0.248)		TCTTCCCGACGCAAGAGCACC	0.567			T	TRA@	T-CLL								A	96178700	G	A	96178700	3	1	364	1	0	0	0	0	1	0	0	0	15804	1087	38	1	198	1	TCL1A	14	96178700	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507987	96178700	11170840	10744	34246											
BDKRB1	623	broad.mit.edu	37	chr14	96730334	96730334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccagtttaactggcctttCggagccctcctctgccgtgt	6	12	9	14	2	1	0	0	0	1	0	3	1	2	1	5	2	4	1	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96730334C>T	ENST00000216629.6	+	3	921	c.315C>T	c.(313-315)ttC>ttT	p.F105F	RP11-404P21.3_ENST00000553638.1_RNA|BDKRB1_ENST00000553356.1_Silent_p.F105F	NM_000710.3	NP_000701.2	P46663	BKRB1_HUMAN	bradykinin receptor B1	105					elevation of cytosolic calcium ion concentration	endoplasmic reticulum|integral to plasma membrane	bradykinin receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|ovary(4)|skin(1)|urinary_tract(1)	16		all_cancers(154;0.0677)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.208)|Epithelial(152;0.226)		ACTGGCCTTTCGGAGCCCTCC	0.557													T	96730334	C	T	96730334	2	4	364	1	0	0	0	0	0	0	0	1	1397	883	31	1		1	BDKRB1	14	96730334	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	551634	96730334	10619206	10745	34247											
ATG2B	55102	broad.mit.edu	37	chr14	96784097	96784097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtattaatgagctgaCtggctactgaaagcccaatg	14	10	10	7	0	0	4	0	4	0	0	0	4	0	4	1	1	3	3	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96784097C>A	ENST00000359933.4	-	19	3868	c.2975G>T	c.(2974-2976)aGt>aTt	p.S992I		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	992										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AATGAGCTGACTGGCTACTGA	0.348													A	96784097	C	A	96784097	3	1	364	1	0	0	0	0	1	0	0	0	1099	565	20	4	3357	4	ATG2B	14	96784097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53763	96784097	10565443	10746	34248											
ATG2B	55102	broad.mit.edu	37	chr14	96795843	96795843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatagtgaggaggaacaGaatgaaaatcagttggaaat	17	9	12	3	0	1	3	1	2	0	1	1	6	1	6	0	3	1	2	0	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96795843G>T	ENST00000359933.4	-	12	2752	c.1859C>A	c.(1858-1860)tCt>tAt	p.S620Y		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	620										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGGAGGAACAGAATGAAAATC	0.313													T	96795843	G	T	96795843	3	4	364	1	0	0	0	0	1	0	0	0	1099	942	33	4	4501	4	ATG2B	14	96795843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11746	96795843	10553697	10747	34249											
PAPOLA	10914	broad.mit.edu	37	chr14	96986534	96986534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agacattgaaaccctttgggGtttttgaagaggaagaggaa	14	10	13	4	0	0	5	0	2	0	3	0	7	0	7	1	4	1	1	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96986534G>A	ENST00000216277.8	+	2	371	c.151G>A	c.(151-153)Gtt>Att	p.V51I	PAPOLA_ENST00000557320.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000557471.1_Missense_Mutation_p.V51I|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Missense_Mutation_p.V51I	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	51					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCTTTGGGGTTTTTGAAGA	0.383													A	96986534	G	A	96986534	3	1	364	1	0	0	0	0	1	0	0	0	11505	1261	44	2	157	2	PAPOLA	14	96986534	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190691	96986534	10363006	10748	34250											
PAPOLA	10914	broad.mit.edu	37	chr14	96994341	96994341	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctgttttgatgggataGaggtaaggtatagttcaaat	13	14	11	3	0	2	2	1	1	1	1	2	3	2	3	0	3	1	4	0	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96994341G>T	ENST00000216277.8	+	6	713	c.493G>T	c.(493-495)Gag>Tag	p.E165*	PAPOLA_ENST00000557320.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000557471.1_Nonsense_Mutation_p.E165*|PAPOLA_ENST00000554130.1_3'UTR|PAPOLA_ENST00000392990.2_Nonsense_Mutation_p.E165*	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	165					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TGATGGGATAGAGGTAAGGTA	0.333													T	96994341	G	T	96994341	4	4	364	1	0	0	0	0	0	1	0	0	11505	943	33	4	515	4	PAPOLA	14	96994341	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7807	96994341	10355199	10749	34251											
PAPOLA	10914	broad.mit.edu	37	chr14	96998682	96998682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattaggttgcagggtaaccGatgaaattttacatctagta	14	13	9	5	1	1	1	0	1	1	0	1	2	1	1	1	2	3	4	1	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:96998682G>A	ENST00000216277.8	+	8	842	c.622G>A	c.(622-624)Gat>Aat	p.D208N	PAPOLA_ENST00000557320.1_Missense_Mutation_p.D208N|PAPOLA_ENST00000392990.2_Missense_Mutation_p.D208N	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	208				CRVTDEILHLVPNIDNFRLTLRAIKLWAKRHNIYS -> MR KPTSFCVLQFLSDISCFYTSFVLKLFIAILLTQ (in Ref. 2; CAD61935).	mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		CAGGGTAACCGATGAAATTTT	0.348													A	96998682	G	A	96998682	3	1	364	1	0	0	0	0	1	0	0	0	11505	1058	37	1	652	1	PAPOLA	14	96998682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4341	96998682	10350858	10750	34252											
PAPOLA	10914	broad.mit.edu	37	chr14	97002275	97002275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaccagcatacccacaacaGaactccacgtacaatgtgtc	15	6	5	15	1	0	1	0	0	0	1	2	1	1	1	3	0	5	2	3	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97002275G>A	ENST00000216277.8	+	11	1189	c.969G>A	c.(967-969)caG>caA	p.Q323Q	PAPOLA_ENST00000392990.2_Silent_p.Q323Q	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	323					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		ACCCACAACAGAACTCCACGT	0.403													A	97002275	G	A	97002275	2	1	364	1	0	0	0	0	0	0	0	1	11505	933	33	2		2	PAPOLA	14	97002275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3593	97002275	10347265	10751	34253											
PAPOLA	10914	broad.mit.edu	37	chr14	97009208	97009208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatccccagtcatttccaGcacccaaagaaaatcccgac	14	7	5	15	1	1	2	1	1	0	1	4	3	4	2	5	0	1	1	5	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97009208G>A	ENST00000216277.8	+	14	1487	c.1267G>A	c.(1267-1269)Gca>Aca	p.A423T	PAPOLA_ENST00000392990.2_Missense_Mutation_p.A423T	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	423					mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		GTCATTTCCAGCACCCAAAGA	0.383													A	97009208	G	A	97009208	3	1	364	1	0	0	0	0	1	0	0	0	11505	971	34	2	1321	2	PAPOLA	14	97009208	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6933	97009208	10340332	10752	34254											
VRK1	7443	broad.mit.edu	37	chr14	97342375	97342375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatgtaagaagcgaaaGaaagaaattgaagaaagcaa	22	8	9	2	1	0	5	0	1	0	4	0	6	0	5	0	0	2	2	0	0	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:97342375G>T	ENST00000216639.3	+	12	1226	c.1077G>T	c.(1075-1077)aaG>aaT	p.K359N	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	359						cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGAAGCGAAAGAAAGAAATTG	0.373													T	97342375	G	T	97342375	3	4	364	1	0	0	0	0	1	0	0	0	17321	933	33	4	1119	4	VRK1	14	97342375	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	333167	97342375	10007165	10753	34255											
C14orf177	283598	broad.mit.edu	37	chr14	99182651	99182651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacttggtgaagggaaatgCccaagttctcagcacctgca	12	8	10	11	0	1	1	1	1	1	0	2	2	1	2	2	2	4	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99182651C>T	ENST00000325812.2	+	3	542	c.123C>T	c.(121-123)tgC>tgT	p.C41C		NM_182560.2	NP_872366.2	Q52M58	CN177_HUMAN	chromosome 14 open reading frame 177	41										endometrium(1)|kidney(1)|large_intestine(1)|lung(10)	13		Melanoma(154;0.128)				AAGGGAAATGCCCAAGTTCTC	0.542													T	99182651	C	T	99182651	2	4	364	1	0	0	0	0	0	0	0	1	1773	747	26	2		2	C14orf177	14	99182651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1840276	99182651	8166889	10754	34256											
BCL11B	64919	broad.mit.edu	37	chr14	99642372	99642372	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcctccggcccgagcggCggcgggatggtgagccgcgg	4	3	20	14	8	0	1	0	1	0	0	1	3	1	2	4	7	2	0	4	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99642372C>T	ENST00000345514.2	-	3	854	c.588G>A	c.(586-588)ccG>ccA	p.P196P	BCL11B_ENST00000357195.3_Silent_p.P267P|BCL11B_ENST00000443726.2_Silent_p.P73P	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	267						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCCCGAGCGGCGGCGGGATGG	0.711			T	TLX3	T-ALL								T	99642372	C	T	99642372	2	4	364	1	0	0	0	0	0	0	0	1	1369	755	27	1		1	BCL11B	14	99642372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	459721	99642372	7707168	10755	34257											
SETD3	84193	broad.mit.edu	37	chr14	99865307	99865307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcttcatatttgggaagCggagccttttcctccatctg	6	15	8	12	1	3	0	1	0	2	0	6	2	5	2	3	2	2	0	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99865307C>T	ENST00000331768.5	-	13	1653	c.1494G>A	c.(1492-1494)ccG>ccA	p.P498P		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	498					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				ATTTGGGAAGCGGAGCCTTTT	0.517													T	99865307	C	T	99865307	2	4	364	1	0	0	0	0	0	0	0	1	14225	755	27	1		1	SETD3	14	99865307	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222935	99865307	7484233	10756	34258											
SETD3	84193	broad.mit.edu	37	chr14	99879293	99879293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaggtcgttaccaggcCgttggtgtggttacacatat	9	11	14	7	2	0	1	0	0	0	1	1	2	0	2	2	5	2	3	2	5	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99879293C>T	ENST00000331768.5	-	8	1003	c.844G>A	c.(844-846)Ggc>Agc	p.G282S	SETD3_ENST00000436070.2_Missense_Mutation_p.G282S|SETD3_ENST00000329331.3_Missense_Mutation_p.G282S	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	282	SET.				peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GTTACCAGGCCGTTGGTGTGG	0.517													T	99879293	C	T	99879293	3	4	364	1	0	0	0	0	1	0	0	0	14225	652	23	1	1010	1	SETD3	14	99879293	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13986	99879293	7470247	10757	34259											
SETD3	84193	broad.mit.edu	37	chr14	99927652	99927652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggaaagtaatcttctctTtttccatcaaaagtaacgga	14	13	6	8	1	4	0	2	0	2	0	6	2	5	2	1	2	1	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:99927652T>G	ENST00000331768.5	-	4	381	c.222A>C	c.(220-222)aaA>aaC	p.K74N	SETD3_ENST00000453938.1_Intron|SETD3_ENST00000436070.2_Missense_Mutation_p.K74N|SETD3_ENST00000329331.3_Missense_Mutation_p.K74N	NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	74					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				AATCTTCTCTTTTTCCATCAA	0.373													G	99927652	T	G	99927652	3	3	364	1	0	0	0	0	1	0	0	0	14225	1838	64	5	1648	5	SETD3	14	99927652	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48359	99927652	7421888	10758	34260											
CYP46A1	10858	broad.mit.edu	37	chr14	100166439	100166439	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctggccttcagccggagGtgagtgtggccggaggctcc	5	7	17	12	2	1	1	1	1	0	0	2	4	2	3	5	6	1	1	5	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100166439G>A	ENST00000261835.3	+	5	547		c.e5+1		CYP46A1_ENST00000423126.2_Splice_Site	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1						bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				TCAGCCGGAGGTGAGTGTGGC	0.632													A	100166439	G	A	100166439	5	1	364	1	0	0	0	0	0	0	1	0	4215	1275	44	2	462	2	CYP46A1	14	100166439	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238787	100166439	7183101	10759	34261											
EML1	2009	broad.mit.edu	37	chr14	100357548	100357548	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacagcaaacccaaggaGcctgtattcagtgcaggtaa	13	9	9	10	0	2	0	2	0	0	0	2	1	2	1	2	2	4	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100357548G>A	ENST00000262233.6	+	5	670	c.531G>A	c.(529-531)gaG>gaA	p.E177E	EML1_ENST00000334192.4_Silent_p.E196E|EML1_ENST00000327921.9_Silent_p.E165E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	177						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				AACCCAAGGAGCCTGTATTCA	0.443													A	100357548	G	A	100357548	2	1	364	1	0	0	0	0	0	0	0	1	5137	962	34	2		2	EML1	14	100357548	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191109	100357548	6991992	10760	34262											
EML1	2009	broad.mit.edu	37	chr14	100363487	100363487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgacatccacaaagctatgGgtacaggggtcgagactgcc	11	8	12	10	1	0	2	0	1	0	1	2	3	1	2	2	3	3	2	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100363487G>A	ENST00000262233.6	+	7	822	c.683G>A	c.(682-684)gGg>gAg	p.G228E	EML1_ENST00000334192.4_Missense_Mutation_p.G247E|EML1_ENST00000327921.9_Missense_Mutation_p.G216E	NM_004434.2	NP_004425.2	O00423	EMAL1_HUMAN	echinoderm microtubule associated protein like 1	228						cytoplasm|microtubule|microtubule associated complex	calcium ion binding|protein binding	p.G247V(1)		breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Melanoma(154;0.0879)|all_epithelial(191;0.216)				CAAAGCTATGGGTACAGGGGT	0.443													A	100363487	G	A	100363487	3	1	364	1	0	0	0	0	1	0	0	0	5137	1232	43	2	770	2	EML1	14	100363487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5939	100363487	6986053	10761	34263											
DEGS2	123099	broad.mit.edu	37	chr14	100615992	100615992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcaccagcaccagcacCgcccacttgaggcgcgggtc	9	3	11	18	3	0	1	0	1	0	0	1	1	0	1	5	2	3	3	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100615992C>T	ENST00000305631.5	-	2	713	c.138G>A	c.(136-138)gcG>gcA	p.A46A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	46					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCACCAGCACCGCCCACTTGA	0.692													T	100615992	C	T	100615992	2	4	364	1	0	0	0	0	0	0	0	1	4462	639	23	1		1	DEGS2	14	100615992	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	252505	100615992	6733548	10762	34264											
DEGS2	123099	broad.mit.edu	37	chr14	100616003	100616003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagcaccgcccacttgaGgcgcgggtctggccgcatca	7	5	12	17	4	2	1	1	1	1	0	2	1	2	1	4	3	1	2	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100616003G>T	ENST00000305631.5	-	2	702	c.127C>A	c.(127-129)Ctc>Atc	p.L43I	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	43					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				GCCCACTTGAGGCGCGGGTCT	0.697													T	100616003	G	T	100616003	3	4	364	1	0	0	0	0	1	0	0	0	4462	1000	35	4	852	4	DEGS2	14	100616003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	100616003	6733537	10763	34265											
SLC25A29	123096	broad.mit.edu	37	chr14	100759259	100759259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaactggttgaggggCgagtcgtggcccagggcccg	6	5	19	11	3	0	1	0	1	0	0	1	3	0	2	3	6	1	1	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100759259C>T	ENST00000392908.3	-	3	437	c.229G>A	c.(229-231)Gcc>Acc	p.A77T	RP11-638I2.6_ENST00000556458.1_lincRNA|SLC25A29_ENST00000556505.1_Silent_p.S25S|SLC25A29_ENST00000359232.3_Silent_p.S91S|SLC25A29_ENST00000555927.1_Silent_p.S25S|SLC25A29_ENST00000554912.1_Silent_p.S25S|SLC25A29_ENST00000539621.1_Silent_p.S25S			Q8N8R3	MCATL_HUMAN	solute carrier family 25 (mitochondrial carnitine/acylcarnitine carrier), member 29	291						integral to membrane|mitochondrial inner membrane	binding			NS(1)|endometrium(1)|ovary(1)	3		Melanoma(154;0.152)			L-Carnitine(DB00583)	GGTTGAGGGGCGAGTCGTGGC	0.692													T	100759259	C	T	100759259	3	4	364	1	0	0	0	0	1	0	0	0	14586	755	27	1	642	1	SLC25A29	14	100759259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143256	100759259	6590281	10764	34266											
WARS	7453	broad.mit.edu	37	chr14	100801232	100801232	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactgaaagtcgaaggacaGcttccggggagtcatgaact	12	8	12	9	2	1	2	1	2	0	0	3	5	2	4	1	3	3	1	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:100801232G>A	ENST00000355338.2	-	11	2014	c.1396C>T	c.(1396-1398)Ctg>Ttg	p.L466L	WARS_ENST00000344102.5_Silent_p.L425L|WARS_ENST00000556645.1_Silent_p.L425L|WARS_ENST00000358655.4_Silent_p.L425L|WARS_ENST00000392882.2_Silent_p.L466L|WARS_ENST00000557135.1_Silent_p.L466L|RP11-638I2.8_ENST00000557226.1_RNA	NM_173701.1	NP_776049.1	P23381	SYWC_HUMAN	tryptophanyl-tRNA synthetase	466					angiogenesis|negative regulation of cell proliferation|regulation of angiogenesis|tryptophanyl-tRNA aminoacylation	cytosol|soluble fraction	ATP binding|protein binding|tryptophan-tRNA ligase activity			breast(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20		all_cancers(154;0.00223)|all_lung(585;2.48e-06)|all_epithelial(191;0.000564)|Melanoma(154;0.152)			L-Tryptophan(DB00150)	TCGAAGGACAGCTTCCGGGGA	0.493													A	100801232	G	A	100801232	2	1	364	1	0	0	0	0	0	0	0	1	17351	962	34	2		2	WARS	14	100801232	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41973	100801232	6548308	10765	34267											
BEGAIN	57596	broad.mit.edu	37	chr14	101005175	101005175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttctcctccgacgtggCgctgaagctggagtaggagc	6	9	13	13	3	1	1	0	1	1	0	4	4	3	3	3	3	2	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101005175C>T	ENST00000556751.1	-	5	4125	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	BEGAIN_ENST00000355173.2_Missense_Mutation_p.A305T|BEGAIN_ENST00000443071.2_Missense_Mutation_p.A305T			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	305						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				TCCGACGTGGCGCTGAAGCTG	0.692													T	101005175	C	T	101005175	3	4	364	1	0	0	0	0	1	0	0	0	1402	768	27	1	872	1	BEGAIN	14	101005175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	203943	101005175	6344365	10766	34268											
DLK1	8788	broad.mit.edu	37	chr14	101200826	101200826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgtgtcaagaagcgcGcgctgagcccccagcaggtc	8	6	12	15	3	2	2	2	1	0	1	3	2	2	2	3	1	3	2	3	1	2	0	rs138651182		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101200826G>A	ENST00000341267.4	+	5	987	c.745G>A	c.(745-747)Gcg>Acg	p.A249T	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				CAAGAAGCGCGCGCTGAGCCC	0.682													A	101200826	G	A	101200826	3	1	364	1	0	0	0	0	1	0	0	0	4603	1087	38	1	763	1	DLK1	14	101200826	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	195651	101200826	6148714	10767	34269											
RTL1	388015	broad.mit.edu	37	chr14	101350844	101350844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctccaggtcttggagtagGtcattgggtggatcctctat	6	14	12	9	0	3	0	1	0	2	0	6	2	6	2	3	5	0	1	3	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:101350844G>A	ENST00000534062.1	-	1	340	c.282C>T	c.(280-282)gaC>gaT	p.D94D	MIR432_ENST00000606207.1_RNA	NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	94										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CTTGGAGTAGGTCATTGGGTG	0.537													A	101350844	G	A	101350844	2	1	364	1	0	0	0	0	0	0	0	1	13815	1252	44	2		2	RTL1	14	101350844	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150018	101350844	5998696	10768	34270											
DYNC1H1	1778	broad.mit.edu	37	chr14	102474581	102474581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctttgacgagttcaacCgcctggaggagcggatgctc	7	9	14	11	3	1	1	1	1	0	0	2	5	1	4	2	3	4	4	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102474581C>T	ENST00000360184.4	+	29	6048	c.5884C>T	c.(5884-5886)Cgc>Tgc	p.R1962C		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1962	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CGAGTTCAACCGCCTGGAGGA	0.572													T	102474581	C	T	102474581	3	4	364	1	0	0	0	0	1	0	0	0	4880	652	23	1	5998	1	DYNC1H1	14	102474581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1123737	102474581	4874959	10769	34271											
DYNC1H1	1778	broad.mit.edu	37	chr14	102477134	102477134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctggtggcagaggacatcCcgctgctcttcagcctcctg	6	9	12	14	1	2	1	1	0	1	1	4	2	4	2	3	3	3	4	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102477134C>T	ENST00000360184.4	+	32	6627	c.6463C>T	c.(6463-6465)Ccg>Tcg	p.P2155S		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2155					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AGAGGACATCCCGCTGCTCTT	0.582													T	102477134	C	T	102477134	3	4	364	1	0	0	0	0	1	0	0	0	4880	623	22	2	6589	2	DYNC1H1	14	102477134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2553	102477134	4872406	10770	34272											
DYNC1H1	1778	broad.mit.edu	37	chr14	102478325	102478325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaggcattggagagactCgagggtgtggaaggtgtggc	9	8	19	5	1	0	2	0	1	0	1	1	6	0	4	0	6	0	1	0	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102478325C>T	ENST00000360184.4	+	33	6896	c.6732C>T	c.(6730-6732)ctC>ctT	p.L2244L		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	2244	AAA 2 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						TGGAGAGACTCGAGGGTGTGG	0.577													T	102478325	C	T	102478325	2	4	364	1	0	0	0	0	0	0	0	1	4880	871	31	1		1	DYNC1H1	14	102478325	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1191	102478325	4871215	10771	34273											
DYNC1H1	1778	broad.mit.edu	37	chr14	102498707	102498707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagtccatctgcctgctgCtgggggaaagcaccacagac	9	7	13	12	0	1	1	0	0	1	1	2	3	2	3	3	3	4	3	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102498707C>A	ENST00000360184.4	+	52	10146	c.9982C>A	c.(9982-9984)Ctg>Atg	p.L3328M		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3328	Stalk (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CTGCCTGCTGCTGGGGGAAAG	0.577													A	102498707	C	A	102498707	3	1	364	1	0	0	0	0	1	0	0	0	4880	796	28	4	10188	4	DYNC1H1	14	102498707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20382	102498707	4850833	10772	34274											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552103	102552103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcctacctgtgtctGtcctcactgtgaatgatccc	6	13	9	13	0	3	2	2	2	1	0	5	2	5	2	4	1	2	0	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552103G>A	ENST00000334701.7	-	4	1168	c.887C>T	c.(886-888)aCa>aTa	p.T296I	HSP90AA1_ENST00000216281.8_Missense_Mutation_p.T174I|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	174					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	ACCTGTGTCTGTCCTCACTGT	0.522													A	102552103	G	A	102552103	3	1	364	1	0	0	0	0	1	0	0	0	7458	1377	48	2	1713	2	HSP90AA1	14	102552103	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53396	102552103	4797437	10773	34275											
HSP90AA1	3320	broad.mit.edu	37	chr14	102552240	102552240	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaactggccaatcatagaGatatctgcaccagcctgcaa	13	7	8	13	1	2	1	1	0	1	1	2	3	2	1	4	1	4	2	4	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102552240G>T	ENST00000334701.7	-	4	1031	c.750C>A	c.(748-750)atC>atA	p.I250I	HSP90AA1_ENST00000216281.8_Silent_p.I128I|HSP90AA1_ENST00000441629.2_Intron	NM_001017963.2	NP_001017963.2	P07900	HS90A_HUMAN	heat shock protein 90kDa alpha (cytosolic), class A member 1	128					axon guidance|cellular chaperone-mediated protein complex assembly|G2/M transition of mitotic cell cycle|nitric oxide metabolic process|positive regulation of nitric oxide biosynthetic process|protein import into mitochondrial outer membrane|protein refolding|regulation of nitric-oxide synthase activity|response to unfolded protein|signal transduction	cytosol|melanosome|plasma membrane	ATP binding|ATPase activity|nitric-oxide synthase regulator activity|protein homodimerization activity|TPR domain binding|unfolded protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(6)|large_intestine(3)|liver(1)|lung(10)|ovary(2)|prostate(1)	28					Rifabutin(DB00615)	CAATCATAGAGATATCTGCAC	0.438													T	102552240	G	T	102552240	2	4	364	1	0	0	0	0	0	0	0	1	7458	932	33	4		4	HSP90AA1	14	102552240	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137	102552240	4797300	10774	34276											
ZNF839	55778	broad.mit.edu	37	chr14	102805268	102805268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagctagagggagctaGcagcgagaagagggaacgtg	13	3	19	6	2	0	3	0	0	0	3	0	7	0	6	0	3	6	4	0	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102805268G>A	ENST00000262236.5	+	6	1782	c.1427G>A	c.(1426-1428)aGc>aAc	p.S476N	ZNF839_ENST00000442396.2_Missense_Mutation_p.S592N|ZNF839_ENST00000558850.1_Missense_Mutation_p.S476N|ZNF839_ENST00000559185.1_Missense_Mutation_p.S476N|ZNF839_ENST00000420933.2_3'UTR	NM_018335.4	NP_060805.3	A8K0R7	ZN839_HUMAN	zinc finger protein 839	476						intracellular	zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						GAGGGAGCTAGCAGCGAGAAG	0.547													A	102805268	G	A	102805268	3	1	364	1	0	0	0	0	1	0	0	0	18287	971	34	2	1797	2	ZNF839	14	102805268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253028	102805268	4544272	10775	34277											
TECPR2	9895	broad.mit.edu	37	chr14	102881081	102881081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaaagaagtctgctctttTacactgaagaaaagtctgta	14	12	8	7	0	3	3	0	1	3	2	3	3	3	3	0	0	3	3	0	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102881081T>C	ENST00000359520.7	+	5	815	c.589T>C	c.(589-591)Tac>Cac	p.Y197H	TECPR2_ENST00000558678.1_Missense_Mutation_p.Y197H|TECPR2_ENST00000561228.1_3'UTR	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	197							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCTGCTCTTTTACACTGAAGA	0.453													C	102881081	T	C	102881081	3	2	364	1	0	0	0	0	1	0	0	0	15844	1754	61	3	603	3	TECPR2	14	102881081	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75813	102881081	4468459	10776	34278											
TECPR2	9895	broad.mit.edu	37	chr14	102894699	102894699	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagaatttcaagcaggcCtgaaggattaacatcaacag	17	9	8	7	0	2	2	2	1	0	1	2	3	2	3	1	2	3	1	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:102894699C>A	ENST00000359520.7	+	7	1290	c.1064C>A	c.(1063-1065)cCt>cAt	p.P355H	TECPR2_ENST00000558678.1_Missense_Mutation_p.P355H	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	355							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						TCAAGCAGGCCTGAAGGATTA	0.328													A	102894699	C	A	102894699	3	1	364	1	0	0	0	0	1	0	0	0	15844	681	24	4	1086	4	TECPR2	14	102894699	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13618	102894699	4454841	10777	34279											
RCOR1	23186	broad.mit.edu	37	chr14	103174910	103174910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggaaacaaaaacgggagCgggaggagaggtgagcacat	15	2	16	8	3	0	2	0	1	0	1	0	6	0	5	1	5	4	1	1	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103174910C>T	ENST00000262241.6	+	6	995	c.769C>T	c.(769-771)Cgg>Tgg	p.R257W	RCOR1_ENST00000570597.1_Missense_Mutation_p.R254W	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	254					blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						AAAACGGGAGCGGGAGGAGAG	0.468													T	103174910	C	T	103174910	3	4	364	1	0	0	0	0	1	0	0	0	13270	759	27	1	782	1	RCOR1	14	103174910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	280211	103174910	4174630	10778	34280											
TRAF3	7187	broad.mit.edu	37	chr14	103336624	103336624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaccgcagtgctgggaCgccagtttttgtccctgaac	7	10	11	13	2	0	2	0	2	0	0	1	3	1	3	3	1	2	3	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103336624C>T	ENST00000560371.1	+	2	303	c.86C>T	c.(85-87)aCg>aTg	p.T29M	TRAF3_ENST00000392745.2_Missense_Mutation_p.T29M|TRAF3_ENST00000539721.1_Missense_Mutation_p.T29M|TRAF3_ENST00000347662.4_Missense_Mutation_p.T29M|TRAF3_ENST00000351691.5_Missense_Mutation_p.T29M	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	29					apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	p.T29M(1)		breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCTGGGACGCCAGTTTTT	0.527													T	103336624	C	T	103336624	3	4	364	1	0	0	0	0	1	0	0	0	16540	536	19	1	88	1	TRAF3	14	103336624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161714	103336624	4012916	10779	34281											
CDC42BPB	9578	broad.mit.edu	37	chr14	103406241	103406241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctggtgcgcagcatctgCttcttgctgttgtcggaggt	3	14	13	11	2	2	0	0	0	2	0	4	1	3	1	1	3	4	5	1	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103406241C>T	ENST00000361246.2	-	33	4923	c.4635G>A	c.(4633-4635)aaG>aaA	p.K1545K		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1545					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GCAGCATCTGCTTCTTGCTGT	0.652													T	103406241	C	T	103406241	2	4	364	1	0	0	0	0	0	0	0	1	3103	796	28	2		2	CDC42BPB	14	103406241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69617	103406241	3943299	10780	34282											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410310	103410310	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccacgtacagtcccatgtgGctgaagcaaagcaggtactc	11	8	10	12	1	0	1	0	1	0	0	3	1	2	1	2	2	4	5	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410310G>A	ENST00000361246.2	-	30	4614	c.4326C>T	c.(4324-4326)agC>agT	p.S1442S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1442	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GTCCCATGTGGCTGAAGCAAA	0.562													A	103410310	G	A	103410310	2	1	364	1	0	0	0	0	0	0	0	1	3103	1194	42	2		2	CDC42BPB	14	103410310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4069	103410310	3939230	10781	34283											
CDC42BPB	9578	broad.mit.edu	37	chr14	103410669	103410669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctggcagcctttggtttccgGaagcttgatgtcaaagctgc	7	12	12	10	1	1	1	1	1	0	0	2	2	2	2	2	3	4	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103410669G>A	ENST00000361246.2	-	30	4255	c.3967C>T	c.(3967-3969)Ccg>Tcg	p.P1323S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1323	CNH.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTGGTTTCCGGAAGCTTGATG	0.562													A	103410669	G	A	103410669	3	1	364	1	0	0	0	0	1	0	0	0	3103	1174	41	2	1200	2	CDC42BPB	14	103410669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	359	103410669	3938871	10782	34284											
CDC42BPB	9578	broad.mit.edu	37	chr14	103418839	103418839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaacgacactcaccctcGcaggcgtagccctgccggat	8	6	10	17	4	1	0	1	0	0	0	2	2	1	1	3	2	4	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103418839G>A	ENST00000361246.2	-	24	3456	c.3168C>T	c.(3166-3168)tgC>tgT	p.C1056C		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	1056					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		ACTCACCCTCGCAGGCGTAGC	0.632													A	103418839	G	A	103418839	2	1	364	1	0	0	0	0	0	0	0	1	3103	1079	38	1		1	CDC42BPB	14	103418839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8170	103418839	3930701	10783	34285											
CDC42BPB	9578	broad.mit.edu	37	chr14	103434650	103434650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcgctctttctcgttcGtatttatcttttattgtacc	6	20	5	10	3	3	0	0	0	3	0	6	0	3	0	1	0	2	5	1	0	4	9	rs144299645		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103434650G>A	ENST00000361246.2	-	16	2574	c.2286C>T	c.(2284-2286)taC>taT	p.Y762Y		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	762					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TTTCTCGTTCGTATTTATCTT	0.388													A	103434650	G	A	103434650	2	1	364	1	0	0	0	0	0	0	0	1	3103	1140	40	1		1	CDC42BPB	14	103434650	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15811	103434650	3914890	10784	34286											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442282	103442282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaatcctcctctcgtaaGcttccatctgcaggctgtgc	6	12	8	15	2	2	0	0	0	2	0	7	1	6	0	4	1	3	4	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103442282G>A	ENST00000361246.2	-	10	1613	c.1325C>T	c.(1324-1326)gCt>gTt	p.A442V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	442					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CCTCTCGTAAGCTTCCATCTG	0.592													A	103442282	G	A	103442282	3	1	364	1	0	0	0	0	1	0	0	0	3103	971	34	2	3922	2	CDC42BPB	14	103442282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7632	103442282	3907258	10785	34287											
CDC42BPB	9578	broad.mit.edu	37	chr14	103452906	103452906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccaaaaggacattgtcaGgtttaatgtctctgtttgta	10	15	9	7	1	2	0	1	0	1	0	4	1	3	1	1	2	0	3	1	2	4	5	rs62006862		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103452906G>T	ENST00000361246.2	-	6	896	c.608C>A	c.(607-609)cCt>cAt	p.P203H		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	203	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		GACATTGTCAGGTTTAATGTC	0.383													T	103452906	G	T	103452906	3	4	364	1	0	0	0	0	1	0	0	0	3103	1000	35	4	4655	4	CDC42BPB	14	103452906	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10624	103452906	3896634	10786	34288											
CDC42BPB	9578	broad.mit.edu	37	chr14	103465943	103465943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatggagtcaatggccagCaccatttcaccaatgtagaa	13	9	10	9	0	2	1	2	0	0	1	2	3	2	3	3	3	1	2	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103465943C>T	ENST00000361246.2	-	5	843	c.555G>A	c.(553-555)gtG>gtA	p.V185V		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	185	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CAATGGCCAGCACCATTTCAC	0.428													T	103465943	C	T	103465943	2	4	364	1	0	0	0	0	0	0	0	1	3103	697	25	2		2	CDC42BPB	14	103465943	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13037	103465943	3883597	10787	34289											
TRMT61A	115708	broad.mit.edu	37	chr14	103996558	103996558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctggacgctgaacctgccGcaccgcacgcagatcctcta	8	7	9	17	4	2	2	0	1	2	1	3	3	3	3	4	1	2	4	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:103996558G>A	ENST00000389749.4	+	2	350	c.243G>A	c.(241-243)ccG>ccA	p.P81P		NM_152307.2	NP_689520.2	Q96FX7	TRM61_HUMAN	tRNA methyltransferase 61 homolog A (S. cerevisiae)	81						nucleus	protein binding|tRNA (adenine-N1-)-methyltransferase activity			skin(1)	1						TGAACCTGCCGCACCGCACGC	0.632													A	103996558	G	A	103996558	2	1	364	1	0	0	0	0	0	0	0	1	16670	1074	38	1		1	TRMT61A	14	103996558	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	530615	103996558	3352982	10788	34290											
BAG5	9529	broad.mit.edu	37	chr14	104026381	104026381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctggatctcagacaagtttCcaaggacgttccagacggct	10	9	10	12	2	1	2	1	0	1	2	4	4	3	4	3	3	0	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104026381C>T	ENST00000445922.2	-	2	1367	c.1121G>A	c.(1120-1122)gGa>gAa	p.G374E	BAG5_ENST00000299204.4_Missense_Mutation_p.G374E|BAG5_ENST00000337322.4_Missense_Mutation_p.G415E|RP11-894P9.2_ENST00000556332.1_RNA	NM_004873.3	NP_004864.1	Q9UL15	BAG5_HUMAN	BCL2-associated athanogene 5	374	BAG 5.				apoptosis|negative regulation of protein refolding|negative regulation of ubiquitin-protein ligase activity|neuron death|protein folding|regulation of inclusion body assembly	inclusion body|perinuclear region of cytoplasm	chaperone binding|ubiquitin protein ligase binding			endometrium(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	24		Melanoma(154;0.155)	Epithelial(46;0.144)			AGACAAGTTTCCAAGGACGTT	0.468													T	104026381	C	T	104026381	3	4	364	1	0	0	0	0	1	0	0	0	1295	855	30	2	226	2	BAG5	14	104026381	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29823	104026381	3323159	10789	34291											
ZFYVE21	79038	broad.mit.edu	37	chr14	104194142	104194142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgcagccagaaggtgccGctgcggcgcatgtgctttgt	5	10	15	11	3	0	1	0	0	0	1	0	1	0	1	2	2	6	5	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104194142G>A	ENST00000216602.6	+	3	361	c.249G>A	c.(247-249)ccG>ccA	p.P83P	ZFYVE21_ENST00000311141.2_Silent_p.P83P	NM_001198953.1	NP_001185882.1	Q9BQ24	ZFY21_HUMAN	zinc finger, FYVE domain containing 21	83						cytoplasmic membrane-bounded vesicle|focal adhesion	metal ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(2)	8		Melanoma(154;0.226)		Epithelial(152;0.245)		AGAAGGTGCCGCTGCGGCGCA	0.662													A	104194142	G	A	104194142	2	1	364	1	0	0	0	0	0	0	0	1	17768	1074	38	1		1	ZFYVE21	14	104194142	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167761	104194142	3155398	10790	34292											
PPP1R13B	23368	broad.mit.edu	37	chr14	104205229	104205229	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgcagctcacctcataGatgatcctctgcaccagatc	9	9	8	15	1	3	3	2	1	1	2	5	3	4	3	3	1	3	4	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104205229G>T	ENST00000202556.9	-	13	3006	c.2724C>A	c.(2722-2724)atC>atA	p.I908I	PPP1R13B_ENST00000555391.1_5'UTR|PPP1R13B_ENST00000423488.2_Silent_p.I327I	NM_015316.2	NP_056131.2	Q96KQ4	ASPP1_HUMAN	protein phosphatase 1, regulatory subunit 13B	908					apoptosis|induction of apoptosis|negative regulation of cell cycle	cytoplasm|nucleus|plasma membrane	protein binding			endometrium(6)|kidney(2)|large_intestine(7)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.173)|all_epithelial(191;0.131)|Melanoma(154;0.155)				TCACCTCATAGATGATCCTCT	0.647													T	104205229	G	T	104205229	2	4	364	1	0	0	0	0	0	0	0	1	12439	932	33	4		4	PPP1R13B	14	104205229	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11087	104205229	3144311	10791	34293											
TDRD9	122402	broad.mit.edu	37	chr14	104460675	104460675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttcttccctaggtctggGtgaaataaattatatgcatg	10	17	8	6	0	2	1	0	1	2	0	3	1	3	1	1	2	1	1	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104460675G>A	ENST00000409874.4	+	10	1235	c.1187G>A	c.(1186-1188)gGt>gAt	p.G396D	TDRD9_ENST00000339063.5_Missense_Mutation_p.G396D	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	396	Helicase C-terminal.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CTAGGTCTGGGTGAAATAAAT	0.338													A	104460675	G	A	104460675	3	1	364	1	0	0	0	0	1	0	0	0	15836	1261	44	2	1225	2	TDRD9	14	104460675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255446	104460675	2888865	10792	34294											
TDRD9	122402	broad.mit.edu	37	chr14	104492412	104492412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagattatggcaataagtCtcatgtagatctacatcttt	12	16	7	6	0	3	2	1	0	3	2	4	2	3	2	0	1	1	3	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104492412C>A	ENST00000409874.4	+	27	3008	c.2960C>A	c.(2959-2961)tCt>tAt	p.S987Y	TDRD9_ENST00000339063.5_Missense_Mutation_p.S987Y	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	987	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				GGCAATAAGTCTCATGTAGAT	0.393													A	104492412	C	A	104492412	3	1	364	1	0	0	0	0	1	0	0	0	15836	913	32	4	3066	4	TDRD9	14	104492412	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31737	104492412	2857128	10793	34295											
ASPG	374569	broad.mit.edu	37	chr14	104570806	104570806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggctgtgaccacaGactatgcagctggcatggta	9	8	14	10	0	0	2	0	1	0	1	1	2	1	2	2	4	2	5	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104570806G>T	ENST00000551177.1	+	8	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y	ASPG_ENST00000455920.2_Missense_Mutation_p.D307Y|ASPG_ENST00000546892.2_Missense_Mutation_p.D307Y	NM_001080464.2	NP_001073933.2	Q86U10	LPP60_HUMAN	asparaginase homolog (S. cerevisiae)	307	Asparaginase.				lipid catabolic process		1-alkyl-2-acetylglycerophosphocholine esterase activity|asparaginase activity|lysophospholipase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	11						TGTGACCACAGACTATGCAGC	0.672													T	104570806	G	T	104570806	3	4	364	1	0	0	0	0	1	0	0	0	1057	942	33	4	949	4	ASPG	14	104570806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78394	104570806	2778734	10794	34296											
KIF26A	26153	broad.mit.edu	37	chr14	104639572	104639572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaccccgtgtgtggggCgcaggtgcgcctgcctactg	4	7	18	12	3	0	0	0	0	0	0	0	2	0	2	4	5	3	1	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104639572C>T	ENST00000315264.7	+	7	1640	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V	KIF26A_ENST00000423312.2_Missense_Mutation_p.A560V			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	560	Kinesin-motor.				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		GTGTGTGGGGCGCAGGTGCGC	0.701													T	104639572	C	T	104639572	3	4	364	1	0	0	0	0	1	0	0	0	8352	768	27	1	1709	1	KIF26A	14	104639572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68766	104639572	2709968	10795	34297											
KIF26A	26153	broad.mit.edu	37	chr14	104643465	104643465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtacgaaggcctggcgcacaGcagcagcaagggccgggaag	11	2	17	11	3	0	0	0	0	0	0	0	2	0	1	2	4	4	5	2	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:104643465G>T	ENST00000315264.7	+	11	4301	c.3923G>T	c.(3922-3924)aGc>aTc	p.S1308I	KIF26A_ENST00000423312.2_Missense_Mutation_p.S1447I			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1447					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGCGCACAGCAGCAGCAAG	0.701													T	104643465	G	T	104643465	3	4	364	1	0	0	0	0	1	0	0	0	8352	971	34	4	4386	4	KIF26A	14	104643465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3893	104643465	2706075	10796	34298											
INF2	64423	broad.mit.edu	37	chr14	105179215	105179215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgtttgaggccatcgaGcagaagcaacgggagctggc	10	6	16	9	2	0	2	0	1	0	1	1	5	0	3	1	3	5	5	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105179215G>A	ENST00000392634.4	+	18	2773	c.2661G>A	c.(2659-2661)gaG>gaA	p.E887E	INF2_ENST00000330634.7_Silent_p.E887E	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	887	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		AGGCCATCGAGCAGAAGCAAC	0.647													A	105179215	G	A	105179215	2	1	364	1	0	0	0	0	0	0	0	1	7792	962	34	2		2	INF2	14	105179215	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	535750	105179215	2170325	10797	34299											
AKT1	207	broad.mit.edu	37	chr14	105241307	105241307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctggagttctgcaggaCgcggttctcggtgagtgtgt	4	12	17	8	3	2	1	0	1	2	0	3	3	2	3	1	4	2	3	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105241307C>T	ENST00000554581.1	-	6	2081	c.601G>A	c.(601-603)Gtc>Atc	p.V201I	AKT1_ENST00000402615.2_Missense_Mutation_p.V201I|AKT1_ENST00000544168.1_Missense_Mutation_p.V139I|AKT1_ENST00000407796.2_Missense_Mutation_p.V201I|AKT1_ENST00000554848.1_Missense_Mutation_p.V201I|AKT1_ENST00000555528.1_Missense_Mutation_p.V201I|AKT1_ENST00000349310.3_Missense_Mutation_p.V201I			P31749	AKT1_HUMAN	v-akt murine thymoma viral oncogene homolog 1	201	Protein kinase.				activation of pro-apoptotic gene products|activation-induced cell death of T cells|endocrine pancreas development|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen biosynthetic process|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|mRNA metabolic process|negative regulation of fatty acid beta-oxidation|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|nitric oxide biosynthetic process|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of blood vessel endothelial cell migration|positive regulation of cell growth|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of establishment of protein localization in plasma membrane|positive regulation of fat cell differentiation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of lipid biosynthetic process|positive regulation of nitric oxide biosynthetic process|positive regulation of nitric-oxide synthase activity|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|protein autophosphorylation|protein import into nucleus, translocation|regulation of neuron projection development|regulation of translation|response to fluid shear stress|response to heat|response to UV-A|T cell costimulation	cytosol|nucleoplasm|plasma membrane	enzyme binding|identical protein binding|nitric-oxide synthase regulator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|protein serine/threonine kinase activity			NS(3)|breast(97)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(7)|lung(10)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|thyroid(10)|urinary_tract(15)	176		all_cancers(154;3.77e-06)|all_lung(585;3.24e-07)|all_epithelial(191;3.45e-05)|all_neural(303;0.0459)|Melanoma(154;0.155)	all cancers(16;0.000486)|OV - Ovarian serous cystadenocarcinoma(23;0.00647)|Epithelial(46;0.0153)|GBM - Glioblastoma multiforme(11;0.116)	all cancers(159;0.0107)|OV - Ovarian serous cystadenocarcinoma(161;0.0132)|Epithelial(152;0.243)	Adenosine triphosphate(DB00171)|Arsenic trioxide(DB01169)	TTCTGCAGGACGCGGTTCTCG	0.677		1	Mis		"breast, colorectal, ovarian, NSCLC"								T	105241307	C	T	105241307	3	4	364	1	0	0	0	0	1	0	0	0	478	536	19	1	873	1	AKT1	14	105241307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62092	105241307	2108233	10798	34300											
AHNAK2	113146	broad.mit.edu	37	chr14	105409750	105409750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctgaacgctgaggtcagtgGccttgaggtccccctgcatg	6	9	14	12	1	1	3	1	3	0	0	2	3	2	3	3	3	2	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409750G>A	ENST00000333244.5	-	7	12157	c.12038C>T	c.(12037-12039)gCc>gTc	p.A4013V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4013						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGGTCAGTGGCCTTGAGGTC	0.662													A	105409750	G	A	105409750	3	1	364	1	0	0	0	0	1	0	0	0	415	1203	42	2	5353	2	AHNAK2	14	105409750	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	168443	105409750	1939790	10799	34301											
AHNAK2	113146	broad.mit.edu	37	chr14	105409831	105409831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catccactgatgcctccatgGacttgcctggggcagacacc	8	8	10	15	0	0	2	0	1	0	1	2	3	2	3	5	3	2	1	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105409831G>A	ENST00000333244.5	-	7	12076	c.11957C>T	c.(11956-11958)tCc>tTc	p.S3986F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3986						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGCCTCCATGGACTTGCCTGG	0.602													A	105409831	G	A	105409831	3	1	364	1	0	0	0	0	1	0	0	0	415	1174	41	2	5434	2	AHNAK2	14	105409831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81	105409831	1939709	10800	34302											
AHNAK2	113146	broad.mit.edu	37	chr14	105411294	105411294	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaccttcggcgcagaCacatccagcgaggcctcgat	8	6	10	17	4	0	1	0	0	0	1	4	3	2	1	5	2	1	1	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411294C>T	ENST00000333244.5	-	7	10613	c.10494G>A	c.(10492-10494)gtG>gtA	p.V3498V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3498						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCGGCGCAGACACATCCAGCG	0.617													T	105411294	C	T	105411294	2	4	364	1	0	0	0	0	0	0	0	1	415	465	17	2		2	AHNAK2	14	105411294	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1463	105411294	1938246	10801	34303											
AHNAK2	113146	broad.mit.edu	37	chr14	105411331	105411331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgatggacctgcctggggccGacaccccgaaggagggcatc	8	4	15	14	3	0	0	0	0	0	0	1	5	0	2	5	5	1	1	5	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105411331G>A	ENST00000333244.5	-	7	10576	c.10457C>T	c.(10456-10458)tCg>tTg	p.S3486L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3486						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GCCTGGGGCCGACACCCCGAA	0.627													A	105411331	G	A	105411331	3	1	364	1	0	0	0	0	1	0	0	0	415	1059	37	1	6934	1	AHNAK2	14	105411331	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37	105411331	1938209	10802	34304											
AHNAK2	113146	broad.mit.edu	37	chr14	105416412	105416412	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctcctggagcctcgacGtccacctccacgctgggcag	5	8	12	16	3	0	0	0	0	0	0	4	2	3	1	5	3	1	3	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416412G>A	ENST00000333244.5	-	7	5495	c.5376C>T	c.(5374-5376)gaC>gaT	p.D1792D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1792						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GAGCCTCGACGTCCACCTCCA	0.632													A	105416412	G	A	105416412	2	1	364	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105416412	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5081	105416412	1933128	10803	34305											
AHNAK2	113146	broad.mit.edu	37	chr14	105416584	105416584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggaggtgccctttgaagccgGctccctcgggaagggggccc	5	6	17	13	2	0	1	0	1	0	0	2	3	1	3	4	6	2	1	4	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416584G>A	ENST00000333244.5	-	7	5323	c.5204C>T	c.(5203-5205)gCc>gTc	p.A1735V	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1735						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TTTGAAGCCGGCTCCCTCGGG	0.632													A	105416584	G	A	105416584	3	1	364	1	0	0	0	0	1	0	0	0	415	1203	42	2	12187	2	AHNAK2	14	105416584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	105416584	1932956	10804	34306											
AHNAK2	113146	broad.mit.edu	37	chr14	105416925	105416925	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtccacctccatgctggaCagagacatcttcacatcggg	10	8	9	14	2	2	1	1	0	1	1	5	3	4	2	3	2	1	1	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105416925C>T	ENST00000333244.5	-	7	4982	c.4863G>A	c.(4861-4863)ctG>ctA	p.L1621L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1621						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCATGCTGGACAGAGACATCT	0.617													T	105416925	C	T	105416925	2	4	364	1	0	0	0	0	0	0	0	1	415	465	17	2		2	AHNAK2	14	105416925	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341	105416925	1932615	10805	34307											
AHNAK2	113146	broad.mit.edu	37	chr14	105419259	105419259	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcctggggccgacaccccGaatgatggcatcttgaactt	8	10	11	12	2	1	2	0	2	1	0	1	4	1	2	4	3	2	1	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105419259G>A	ENST00000333244.5	-	7	2648	c.2529C>T	c.(2527-2529)ttC>ttT	p.F843F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	843						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGACACCCCGAATGATGGCA	0.617													A	105419259	G	A	105419259	2	1	364	1	0	0	0	0	0	0	0	1	415	1049	37	1		1	AHNAK2	14	105419259	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2334	105419259	1930281	10806	34308											
AHNAK2	113146	broad.mit.edu	37	chr14	105420882	105420882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcgctccaccgtgagctgGgcctctgtgtctgtgcttgt	2	13	14	12	2	2	1	0	1	2	0	3	1	3	1	3	2	2	3	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105420882G>A	ENST00000333244.5	-	7	1025	c.906C>T	c.(904-906)gcC>gcT	p.A302A		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	302						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGTGAGCTGGGCCTCTGTGT	0.652													A	105420882	G	A	105420882	2	1	364	1	0	0	0	0	0	0	0	1	415	1219	43	2		2	AHNAK2	14	105420882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1623	105420882	1928658	10807	34309											
GPR132	29933	broad.mit.edu	37	chr14	105517471	105517471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgggtgagcctggtgaCgtctgtcttcatggaccact	5	12	14	10	1	3	2	1	2	2	0	3	3	3	3	2	3	1	1	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517471C>T	ENST00000329797.3	-	4	1914	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	GPR132_ENST00000392585.2_Missense_Mutation_p.V326I|GPR132_ENST00000539291.2_Missense_Mutation_p.V335I	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	335					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		AGCCTGGTGACGTCTGTCTTC	0.612													T	105517471	C	T	105517471	3	4	364	1	0	0	0	0	1	0	0	0	6696	536	19	1	143	1	GPR132	14	105517471	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96589	105517471	1832069	10808	34310											
GPR132	29933	broad.mit.edu	37	chr14	105517744	105517744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatgacaaccaccgcgatggCcgagtgcttcaccttggcct	8	8	11	14	3	1	1	1	1	0	0	1	4	1	1	5	2	2	1	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105517744C>T	ENST00000329797.3	-	4	1641	c.730G>A	c.(730-732)Gcc>Acc	p.A244T	GPR132_ENST00000392585.2_Missense_Mutation_p.A235T|GPR132_ENST00000539291.2_Missense_Mutation_p.A244T	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	244					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		ACCGCGATGGCCGAGTGCTTC	0.567													T	105517744	C	T	105517744	3	4	364	1	0	0	0	0	1	0	0	0	6696	739	26	2	416	2	GPR132	14	105517744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	273	105517744	1831796	10809	34311											
JAG2	3714	broad.mit.edu	37	chr14	105609257	105609257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccggccggcccgggcagCgcctcgtccgccctgcgcgg	1	4	17	19	8	0	0	0	0	0	0	2	0	1	0	6	5	2	1	6	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105609257C>T	ENST00000331782.3	-	26	3895	c.3492G>A	c.(3490-3492)gcG>gcA	p.A1164A	JAG2_ENST00000347004.2_Silent_p.A1126A	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1164					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		gcccgggcagcgcctcgtccg	0.706													T	105609257	C	T	105609257	2	4	364	1	0	0	0	0	0	0	0	1	7993	755	27	1		1	JAG2	14	105609257	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91513	105609257	1740283	10810	34312											
JAG2	3714	broad.mit.edu	37	chr14	105615643	105615643	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggcaggggcttggctcacaAaggtcgacatccacctgcag	9	6	13	13	2	1	0	1	0	0	0	3	1	2	0	2	5	1	4	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105615643A>G	ENST00000331782.3	-	13	2020	c.1617T>C	c.(1615-1617)ctT>ctC	p.L539L	JAG2_ENST00000347004.2_Silent_p.L501L	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	539	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		TTGGCTCACAAAGGTCGACAT	0.622													G	105615643	A	G	105615643	2	3	364	1	0	0	0	0	0	0	0	1	7993	1	1	3		3	JAG2	14	105615643	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6386	105615643	1733897	10811	34313											
NUDT14	256281	broad.mit.edu	37	chr14	105643109	105643109	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctcacccgcatacacagCtgcgtgggaagaagccagac	12	4	10	15	2	1	2	1	0	0	2	1	3	1	3	3	1	4	2	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105643109C>A	ENST00000392568.2	-	4	284		c.e4-1		RP11-44N21.4_ENST00000548203.1_RNA	NM_177533.4	NP_803877.2	O95848	NUD14_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 14							cytoplasm	metal ion binding|protein binding|UDP-sugar diphosphatase activity			cervix(2)|endometrium(1)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	14		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		GCATACACAGCTGCGTGGGAA	0.677										HNSCC(42;0.11)			A	105643109	C	A	105643109	5	1	364	1	0	0	0	0	0	0	1	0	10806	811	28	4	486	4	NUDT14	14	105643109	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27466	105643109	1706431	10812	34314											
BRF1	2972	broad.mit.edu	37	chr14	105677540	105677540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcgtcagcctcctcgtCggcgtggtatgacacgggcc	4	9	12	16	5	1	1	1	1	0	0	6	1	3	1	4	3	1	1	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105677540C>T	ENST00000546474.1	-	17	16874	c.1915G>A	c.(1915-1917)Gac>Aac	p.D639N	BRF1_ENST00000440513.3_Missense_Mutation_p.D546N|BRF1_ENST00000327359.3_Missense_Mutation_p.D524N|BRF1_ENST00000547530.1_Missense_Mutation_p.D165N|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000379937.2_Missense_Mutation_p.D612N|BRF1_ENST00000392557.4_Missense_Mutation_p.D435N|BRF1_ENST00000446501.2_Missense_Mutation_p.D401N	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	639					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GCCTCCTCGTCGGCGTGGTAT	0.682													T	105677540	C	T	105677540	3	4	364	1	0	0	0	0	1	0	0	0	1519	884	31	1	126	1	BRF1	14	105677540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34431	105677540	1672000	10813	34315											
MTA1	9112	broad.mit.edu	37	chr14	105930811	105930811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatgcagtgtcgtctctgCgcatcttgttggacatattg	8	14	10	9	2	2	0	0	0	2	0	4	1	2	1	0	1	3	3	0	1	2	4	rs139203829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105930811C>T	ENST00000331320.7	+	14	1465	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	MTA1_ENST00000405646.1_Silent_p.C400C|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Silent_p.C417C	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	417					signal transduction	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GTCGTCTCTGCGCATCTTGTT	0.483													T	105930811	C	T	105930811	2	4	364	1	0	0	0	0	0	0	0	1	9984	776	27	1		1	MTA1	14	105930811	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	253271	105930811	1418729	10814	34316											
CRIP1	1396	broad.mit.edu	37	chr14	105954546	105954546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaggactggcatcggccctgCctgaagtgcgagaaatgtgg	10	7	15	9	2	0	2	0	1	0	1	1	4	0	3	2	4	2	1	2	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr14:105954546C>T	ENST00000330233.7	+	2	1027	c.84C>T	c.(82-84)tgC>tgT	p.C28C	CRIP1_ENST00000392531.3_Silent_p.C28C|CRIP1_ENST00000409393.2_Silent_p.C28C			P50238	CRIP1_HUMAN	cysteine-rich protein 1 (intestinal)	28	LIM zinc-binding.				cell proliferation	cytoplasm	zinc ion binding						Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00596)|Epithelial(46;0.0188)	Epithelial(152;0.235)		ATCGGCCCTGCCTGAAGTGCG	0.687													T	105954546	C	T	105954546	2	4	364	1	0	0	0	0	0	0	0	1	3905	747	26	2		2	CRIP1	14	105954546	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23735	105954546	1394994	10815	34317											
OR4M2	390538	broad.mit.edu	37	chr15	22368619	22368619	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgacagaatttgttctcaCtggcctatcccagactccag	9	11	9	12	0	1	3	1	1	1	2	4	3	3	3	3	2	0	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22368619C>A	ENST00000332663.2	+	1	142	c.44C>A	c.(43-45)aCt>aAt	p.T15N	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	15					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		TTTGTTCTCACTGGCCTATCC	0.338													A	22368619	C	A	22368619	3	1	364	1	0	0	0	0	1	0	0	0	11152	565	20	4	46	4	OR4M2	15	22368619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		22368619	80162773	10816	34318											
TUBGCP5	114791	broad.mit.edu	37	chr15	22848930	22848930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatggccaggttgtgtttcGactccaggagttcattgatg	8	14	12	7	1	1	1	1	1	0	0	3	3	2	2	2	3	0	3	2	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22848930G>A	ENST00000283645.4	+	10	1107	c.977G>A	c.(976-978)cGa>cAa	p.R326Q	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.R326Q|TUBGCP5_ENST00000559846.1_3'UTR	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	326					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		GTTGTGTTTCGACTCCAGGAG	0.453													A	22848930	G	A	22848930	3	1	364	1	0	0	0	0	1	0	0	0	16871	1058	37	1	1015	1	TUBGCP5	15	22848930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	480311	22848930	79682462	10817	34319											
CYFIP1	23191	broad.mit.edu	37	chr15	22940758	22940758	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcctccggcagcagcccTcagtacaacatctgcgagca	11	6	8	16	2	2	0	1	0	1	0	4	1	4	0	3	1	6	4	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22940758T>C	ENST00000313077.7	+	11	1148	c.1023T>C	c.(1021-1023)ccT>ccC	p.P341P	CYFIP1_ENST00000560848.1_Silent_p.P341P	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	341					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		GCAGCAGCCCTCAGTACAACA	0.642													C	22940758	T	C	22940758	2	2	364	1	0	0	0	0	0	0	0	1	4170	1538	54	3		3	CYFIP1	15	22940758	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91828	22940758	79590634	10818	34320											
CYFIP1	23191	broad.mit.edu	37	chr15	22958208	22958208	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgctgcagcagtgctgtgaCctttcgcagctgtggttccg	5	11	13	12	3	0	1	0	1	0	0	2	1	1	1	2	1	4	7	2	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:22958208C>T	ENST00000313077.7	+	17	1976	c.1851C>T	c.(1849-1851)gaC>gaT	p.D617D	CYFIP1_ENST00000435939.2_Silent_p.D186D|CYFIP1_ENST00000560848.1_Silent_p.D617D	NM_014608.2	NP_055423.1	Q7L576	CYFP1_HUMAN	cytoplasmic FMR1 interacting protein 1	617					axon extension|lamellipodium assembly|regulation of cell shape|ruffle organization	cell junction|lamellipodium|mRNA cap binding complex|perinuclear region of cytoplasm|ruffle|synapse|synaptosome	actin filament binding|Rac GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		AGTGCTGTGACCTTTCGCAGC	0.532													T	22958208	C	T	22958208	2	4	364	1	0	0	0	0	0	0	0	1	4170	506	18	2		2	CYFIP1	15	22958208	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17450	22958208	79573184	10819	34321											
NIPA2	81614	broad.mit.edu	37	chr15	23006491	23006491	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgtcaacaggcatatcttgCcactccttaaaaagaatagc	14	10	6	11	1	2	1	1	0	1	1	4	1	3	1	2	1	3	1	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23006491C>T	ENST00000337451.3	-	8	1425	c.813G>A	c.(811-813)tgG>tgA	p.W271*	NIPA2_ENST00000398013.3_Nonsense_Mutation_p.W271*|NIPA2_ENST00000398014.2_Nonsense_Mutation_p.W271*|NIPA2_ENST00000539711.2_Nonsense_Mutation_p.W252*|NIPA2_ENST00000359727.4_Nonsense_Mutation_p.W252*	NM_030922.6	NP_112184.4	Q8N8Q9	NIPA2_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 2	271						early endosome|integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|prostate(4)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;1.48e-06)|Epithelial(43;1.44e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000353)		GCATATCTTGCCACTCCTTAA	0.373													T	23006491	C	T	23006491	4	4	364	1	0	0	0	0	0	1	0	0	10499	740	26	2	273	2	NIPA2	15	23006491	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48283	23006491	79524901	10820	34322											
NIPA1	123606	broad.mit.edu	37	chr15	23049092	23049092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatgtacctgaactggaCgatgatgctgcagccgagca	10	9	13	9	2	0	3	0	3	0	0	0	6	0	4	2	1	6	5	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23049092C>T	ENST00000437912.2	-	5	1799	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	NIPA1_ENST00000538684.1_Missense_Mutation_p.V73I|NIPA1_ENST00000337435.4_Missense_Mutation_p.V243I|NIPA1_ENST00000561183.1_Missense_Mutation_p.V168I			Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	243					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CTGAACTGGACGATGATGCTG	0.607													T	23049092	C	T	23049092	3	4	364	1	0	0	0	0	1	0	0	0	10498	536	19	1	266	1	NIPA1	15	23049092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42601	23049092	79482300	10821	34323											
MKRN3	7681	broad.mit.edu	37	chr15	23811803	23811803	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgagggcctgcattgaaGcacacgagaaagatatggaa	16	7	12	6	1	0	4	0	2	0	2	0	6	0	5	1	2	2	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23811803G>T	ENST00000314520.3	+	1	1350	c.874G>T	c.(874-876)Gca>Tca	p.A292S	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_3'UTR|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	292	Makorin-type Cys-His.					ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		CTGCATTGAAGCACACGAGAA	0.522													T	23811803	G	T	23811803	3	4	364	1	0	0	0	0	1	0	0	0	9683	971	34	4	876	4	MKRN3	15	23811803	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	762711	23811803	78719589	10822	34324											
MKRN3	7681	broad.mit.edu	37	chr15	23812185	23812185	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagacacatgcttttacaAgcatgaataccctgagggct	12	10	10	9	0	0	3	0	2	0	1	0	4	0	3	1	2	4	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:23812185A>C	ENST00000314520.3	+	1	1732	c.1256A>C	c.(1255-1257)aAg>aCg	p.K419T	MKRN3_ENST00000568252.1_Intron|MKRN3_ENST00000568945.1_Intron|MKRN3_ENST00000564592.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	419						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		TGCTTTTACAAGCATGAATAC	0.522													C	23812185	A	C	23812185	3	2	364	1	0	0	0	0	1	0	0	0	9683	72	3	5	1258	5	MKRN3	15	23812185	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	382	23812185	78719207	10823	34325											
SNURF	8926	broad.mit.edu	37	chr15	25207266	25207266	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttttctgtttcagggatcGcttacacctgagacgaacta	9	14	8	10	2	3	1	1	1	2	1	4	4	3	2	1	1	2	2	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25207266G>A	ENST00000338094.6	+	2	81	c.20G>A	c.(19-21)cGc>cAc	p.R7H	SNRPN_ENST00000346403.6_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.R7H|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R7H|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000400098.1_5'UTR|SNRPN_ENST00000577565.1_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400097.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R7H	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TTCAGGGATCGCTTACACCTG	0.408													A	25207266	G	A	25207266	3	1	364	1	0	0	0	0	1	0	0	0	14972	1087	38	1	26	1	SNURF	15	25207266	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1395081	25207266	77324126	10824	34326											
UBE3A	7337	broad.mit.edu	37	chr15	25601967	25601967	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtactatgccaatcagAgtaaactgaccctcagtttc	12	10	6	13	0	2	2	2	1	0	1	3	2	2	2	3	0	3	3	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25601967A>G	ENST00000232165.3	-	8	2486	c.1830T>C	c.(1828-1830)acT>acC	p.T610T	UBE3A_ENST00000397954.2_Silent_p.T613T|UBE3A_ENST00000438097.1_Silent_p.T590T|UBE3A_ENST00000428984.2_Silent_p.T590T|UBE3A_ENST00000566215.1_Silent_p.T590T|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	613					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		TGCCAATCAGAGTAAACTGAC	0.338													G	25601967	A	G	25601967	2	3	364	1	0	0	0	0	0	0	0	1	16981	291	11	3		3	UBE3A	15	25601967	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	394701	25601967	76929425	10825	34327											
UBE3A	7337	broad.mit.edu	37	chr15	25616697	25616697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctatcacctatccttgaGgaagatgcttctgagtcttc	9	13	9	10	0	3	3	1	2	2	1	5	5	4	4	2	1	2	2	2	1	3	5	rs112484472		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25616697G>T	ENST00000232165.3	-	6	1280	c.624C>A	c.(622-624)tcC>tcA	p.S208S	UBE3A_ENST00000397954.2_Silent_p.S211S|UBE3A_ENST00000438097.1_Silent_p.S188S|UBE3A_ENST00000428984.2_Silent_p.S188S|UBE3A_ENST00000566215.1_Silent_p.S188S|SNHG14_ENST00000554726.1_RNA	NM_000462.3|NM_130839.2	NP_000453.2|NP_570854.1	Q05086	UBE3A_HUMAN	ubiquitin protein ligase E3A	211					brain development|interspecies interaction between organisms|protein K48-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	38		all_cancers(20;3.47e-21)|Breast(32;0.00123)		all cancers(64;2.78e-08)|Epithelial(43;8.85e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0155)|Lung(196;0.0616)		CTATCCTTGAGGAAGATGCTT	0.413													T	25616697	G	T	25616697	2	4	364	1	0	0	0	0	0	0	0	1	16981	987	35	4		4	UBE3A	15	25616697	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14730	25616697	76914695	10826	34328											
ATP10A	57194	broad.mit.edu	37	chr15	25967018	25967018	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacttggcatgctttaacAatttcaatggaaacgtataa	15	13	6	7	1	1	0	1	0	0	0	1	1	1	1	0	2	4	3	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:25967018A>G	ENST00000356865.6	-	7	1260	c.1149T>C	c.(1147-1149)atT>atC	p.I383I		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	383					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		ATGCTTTAACAATTTCAATGG	0.468													G	25967018	A	G	25967018	2	3	364	1	0	0	0	0	0	0	0	1	1121	126	5	3		3	ATP10A	15	25967018	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	350321	25967018	76564374	10827	34329											
GABRB3	2562	broad.mit.edu	37	chr15	26866633	26866633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatcccagaataggcgaGccttttatctctccaatatt	11	12	8	10	1	1	1	0	0	1	1	4	3	3	2	3	2	1	0	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:26866633G>A	ENST00000541819.2	-	5	559	c.457C>T	c.(457-459)Ctc>Ttc	p.L153F	GABRB3_ENST00000311550.5_Missense_Mutation_p.L97F|GABRB3_ENST00000299267.4_Missense_Mutation_p.L97F|GABRB3_ENST00000545868.1_Missense_Mutation_p.L12F|GABRB3_ENST00000400188.3_Missense_Mutation_p.L26F			P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	97					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GAATAGGCGAGCCTTTTATCT	0.423													A	26866633	G	A	26866633	3	1	364	1	0	0	0	0	1	0	0	0	6220	971	34	2	1156	2	GABRB3	15	26866633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	899615	26866633	75664759	10828	34330											
GABRA5	2558	broad.mit.edu	37	chr15	27193350	27193350	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtatttgaatagggagccGgtgataaaaggagccgcctc	12	8	13	8	3	0	2	0	2	0	0	1	4	0	4	3	3	2	1	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:27193350G>A	ENST00000335625.5	+	11	2247	c.1359G>A	c.(1357-1359)ccG>ccA	p.P453P	GABRA5_ENST00000400081.3_Silent_p.P453P|GABRA5_ENST00000355395.5_Silent_p.P453P	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	453					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATAGGGAGCCGGTGATAAAAG	0.468													A	27193350	G	A	27193350	2	1	364	1	0	0	0	0	0	0	0	1	6216	1103	39	1		1	GABRA5	15	27193350	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	326717	27193350	75338042	10829	34331											
OCA2	4948	broad.mit.edu	37	chr15	28202803	28202803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccccagcagcaggcggCgcacagctgtctcctcgcgg	5	6	12	18	4	1	0	0	0	1	0	4	0	2	0	4	3	3	4	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28202803C>T	ENST00000354638.3	-	16	1870	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	OCA2_ENST00000382996.2_Missense_Mutation_p.R572H|OCA2_ENST00000353809.5_Missense_Mutation_p.R548H	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	572					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CAGCAGGCGGCGCACAGCTGT	0.657									Oculocutaneous Albinism				T	28202803	C	T	28202803	3	4	364	1	0	0	0	0	1	0	0	0	10891	768	27	1	837	1	OCA2	15	28202803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1009453	28202803	74328589	10830	34332											
OCA2	4948	broad.mit.edu	37	chr15	28230277	28230277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcagagaggacggccgCgatgagacagagcatgatga	14	3	17	7	3	0	5	0	3	0	3	0	10	0	6	1	3	1	2	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28230277C>T	ENST00000354638.3	-	13	1452	c.1297G>A	c.(1297-1299)Gcg>Acg	p.A433T	OCA2_ENST00000382996.2_Missense_Mutation_p.A433T|OCA2_ENST00000353809.5_Missense_Mutation_p.A409T	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	433					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGGACGGCCGCGATGAGACAG	0.597									Oculocutaneous Albinism				T	28230277	C	T	28230277	3	4	364	1	0	0	0	0	1	0	0	0	10891	768	27	1	1267	1	OCA2	15	28230277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27474	28230277	74301115	10831	34333											
OCA2	4948	broad.mit.edu	37	chr15	28273046	28273046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagacggagtcggatgtgCgggctgtccagaaggtctcc	9	7	16	9	3	1	2	0	0	1	2	4	5	2	4	2	4	1	1	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28273046C>T	ENST00000354638.3	-	4	641	c.486G>A	c.(484-486)ccG>ccA	p.P162P	OCA2_ENST00000382996.2_Silent_p.P162P|OCA2_ENST00000353809.5_Silent_p.P162P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	162					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GTCGGATGTGCGGGCTGTCCA	0.622									Oculocutaneous Albinism				T	28273046	C	T	28273046	2	4	364	1	0	0	0	0	0	0	0	1	10891	755	27	1		1	OCA2	15	28273046	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42769	28273046	74258346	10832	34334											
HERC2	8924	broad.mit.edu	37	chr15	28369239	28369239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccaacagaaggcccgaGtccagtttcgtcgagcgagc	11	5	12	13	4	0	1	0	0	0	1	3	5	1	1	3	1	4	1	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28369239G>A	ENST00000261609.7	-	85	13240	c.13132C>T	c.(13132-13134)Ctc>Ttc	p.L4378F		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4378					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		GAAGGCCCGAGTCCAGTTTCG	0.562													A	28369239	G	A	28369239	3	1	364	1	0	0	0	0	1	0	0	0	7113	1029	36	2	1408	2	HERC2	15	28369239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96193	28369239	74162153	10833	34335											
HERC2	8924	broad.mit.edu	37	chr15	28389916	28389916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaactcatcccctgggatGcgcagctcgctggaccagtc	7	10	10	14	2	1	0	1	0	0	0	4	2	2	2	3	2	3	3	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28389916G>A	ENST00000261609.7	-	72	11151	c.11043C>T	c.(11041-11043)cgC>cgT	p.R3681R		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3681					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CCCCTGGGATGCGCAGCTCGC	0.572													A	28389916	G	A	28389916	2	1	364	1	0	0	0	0	0	0	0	1	7113	1306	46	2		2	HERC2	15	28389916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20677	28389916	74141476	10834	34336											
HERC2	8924	broad.mit.edu	37	chr15	28447534	28447534	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggaagcaccagtgagagacTtcagggcaaactcgatgttc	12	7	12	10	2	1	2	1	1	0	1	3	5	1	3	1	2	2	3	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28447534T>G	ENST00000261609.7	-	46	7547	c.7439A>C	c.(7438-7440)aAg>aCg	p.K2480T		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2480					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AGTGAGAGACTTCAGGGCAAA	0.562													G	28447534	T	G	28447534	3	3	364	1	0	0	0	0	1	0	0	0	7113	1609	56	5	7257	5	HERC2	15	28447534	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57618	28447534	74083858	10835	34337											
HERC2	8924	broad.mit.edu	37	chr15	28463781	28463781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtgctggtaaacatcattGcagtggggtgaatgttcctt	9	14	12	6	0	1	1	1	1	0	0	2	1	2	1	1	3	3	4	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28463781G>A	ENST00000261609.7	-	38	5990	c.5882C>T	c.(5881-5883)gCa>gTa	p.A1961V		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1961					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAACATCATTGCAGTGGGGTG	0.388													A	28463781	G	A	28463781	3	1	364	1	0	0	0	0	1	0	0	0	7113	1319	46	2	8846	2	HERC2	15	28463781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16247	28463781	74067611	10836	34338											
HERC2	8924	broad.mit.edu	37	chr15	28483336	28483336	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaagcagcttccaaagctAccactgggtcttcccctgca	10	8	8	15	0	1	0	0	0	1	0	3	0	3	0	4	1	5	5	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:28483336A>G	ENST00000261609.7	-	25	3884	c.3776T>C	c.(3775-3777)gTa>gCa	p.V1259A		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1259	Cytochrome b5 heme-binding.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TTCCAAAGCTACCACTGGGTC	0.463													G	28483336	A	G	28483336	3	3	364	1	0	0	0	0	1	0	0	0	7113	391	14	3	11004	3	HERC2	15	28483336	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	19555	28483336	74048056	10837	34339											
APBA2	321	broad.mit.edu	37	chr15	29346645	29346645	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaagaagatggtcactaCtgtgccagcaaagagggcta	14	6	13	8	0	1	3	1	0	0	3	1	4	1	4	1	3	3	2	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29346645C>A	ENST00000558402.1	+	5	1157	c.558C>A	c.(556-558)taC>taA	p.Y186*	APBA2_ENST00000411764.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000558330.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000558259.1_Nonsense_Mutation_p.Y186*|APBA2_ENST00000561069.1_Nonsense_Mutation_p.Y186*			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	186	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).	nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		ATGGTCACTACTGTGCCAGCA	0.642													A	29346645	C	A	29346645	4	1	364	1	0	0	0	0	0	1	0	0	759	576	20	4	560	4	APBA2	15	29346645	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	863309	29346645	73184747	10838	34340											
APBA2	321	broad.mit.edu	37	chr15	29385292	29385292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcagttccagggccctgcGaaccagaagacctcatcgac	10	7	9	15	2	2	2	2	0	0	2	4	4	3	2	4	1	2	1	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:29385292G>A	ENST00000558402.1	+	8	1683	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	APBA2_ENST00000411764.1_Missense_Mutation_p.E362K|APBA2_ENST00000558330.1_Missense_Mutation_p.E362K|APBA2_ENST00000558259.1_Missense_Mutation_p.E362K|APBA2_ENST00000561069.1_Missense_Mutation_p.E362K			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	362					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		AGGGCCCTGCGAACCAGAAGA	0.522													A	29385292	G	A	29385292	3	1	364	1	0	0	0	0	1	0	0	0	759	1059	37	1	1098	1	APBA2	15	29385292	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38647	29385292	73146100	10839	34341											
TJP1	7082	broad.mit.edu	37	chr15	30003154	30003154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcctggatgggttcatagCgtttctcgccaaatgatcta	8	13	11	9	2	3	1	1	1	2	0	4	2	3	2	2	3	1	2	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30003154C>T	ENST00000346128.6	-	24	4727	c.4253G>A	c.(4252-4254)cGc>cAc	p.R1418H	TJP1_ENST00000545208.2_Missense_Mutation_p.R1338H|TJP1_ENST00000356107.6_Missense_Mutation_p.R1418H|TJP1_ENST00000400011.2_Missense_Mutation_p.R1342H	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1418					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		GGGTTCATAGCGTTTCTCGCC	0.507													T	30003154	C	T	30003154	3	4	364	1	0	0	0	0	1	0	0	0	16029	768	27	1	1013	1	TJP1	15	30003154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	617862	30003154	72528238	10840	34342											
TJP1	7082	broad.mit.edu	37	chr15	30024971	30024971	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtcagcacggtctccGcctgctgtttttggaagtgt	7	12	12	10	2	2	1	1	0	1	1	3	2	2	2	2	2	2	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:30024971G>A	ENST00000346128.6	-	14	2259	c.1785C>T	c.(1783-1785)ggC>ggT	p.G595G	TJP1_ENST00000545208.2_Silent_p.G595G|TJP1_ENST00000356107.6_Silent_p.G595G|TJP1_ENST00000400011.2_Silent_p.G599G	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	595					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACGGTCTCCGCCTGCTGTTT	0.438													A	30024971	G	A	30024971	2	1	364	1	0	0	0	0	0	0	0	1	16029	1074	38	1		1	TJP1	15	30024971	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21817	30024971	72506421	10841	34343											
MTMR10	54893	broad.mit.edu	37	chr15	31239394	31239394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgccaaacagtgagatcCgggtgctgtcatacaacact	12	8	11	10	1	1	1	1	1	0	1	2	2	2	1	2	2	5	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31239394C>T	ENST00000435680.1	-	14	1584	c.1487G>A	c.(1486-1488)cGg>cAg	p.R496Q	MTMR10_ENST00000425768.1_3'UTR|MTMR10_ENST00000563714.1_Missense_Mutation_p.R414Q|MTMR10_ENST00000314404.8_Missense_Mutation_p.R248Q	NM_017762.2	NP_060232.2	Q9NXD2	MTMRA_HUMAN	myotubularin related protein 10	496	Myotubularin phosphatase.						phosphatase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;2.81e-11)		all cancers(64;7.26e-15)|Epithelial(43;7.2e-11)|GBM - Glioblastoma multiforme(186;0.000158)|BRCA - Breast invasive adenocarcinoma(123;0.00426)|Lung(196;0.174)		CAGTGAGATCCGGGTGCTGTC	0.502													T	31239394	C	T	31239394	3	4	364	1	0	0	0	0	1	0	0	0	10015	652	23	1	858	1	MTMR10	15	31239394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1214423	31239394	71291998	10842	34344											
TRPM1	4308	broad.mit.edu	37	chr15	31295069	31295069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctttgccggagaagataCgttgcctcacattcagaaga	11	10	10	10	2	2	4	2	0	0	4	2	5	2	4	2	1	4	2	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31295069C>T	ENST00000542188.1	-	27	4198	c.3885G>A	c.(3883-3885)acG>acA	p.T1295T	TRPM1_ENST00000397795.2_Silent_p.T1256T|TRPM1_ENST00000256552.6_Silent_p.T1278T|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1256					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGAAGATACGTTGCCTCAC	0.453													T	31295069	C	T	31295069	2	4	364	1	0	0	0	0	0	0	0	1	16686	523	19	1		1	TRPM1	15	31295069	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55675	31295069	71236323	10843	34345											
TRPM1	4308	broad.mit.edu	37	chr15	31318475	31318475	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtcgctaaggaagagctCtgtgtgaagggagaagtgtc	10	9	15	7	2	1	3	0	1	1	2	4	5	1	4	0	2	1	2	0	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31318475C>A	ENST00000542188.1	-	26	3861		c.e26-1		TRPM1_ENST00000397795.2_Splice_Site|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Splice_Site|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1						cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		AGGAAGAGCTCTGTGTGAAGG	0.512													A	31318475	C	A	31318475	5	1	364	1	0	0	0	0	0	0	1	0	16686	927	32	4	1389	4	TRPM1	15	31318475	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23406	31318475	71212917	10844	34346											
TRPM1	4308	broad.mit.edu	37	chr15	31323354	31323354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccacaaagtacagcatgtCgatcatctgagtaaggagaa	16	7	10	8	1	2	2	1	1	1	1	3	5	2	2	1	1	2	3	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31323354C>T	ENST00000542188.1	-	22	3323	c.3010G>A	c.(3010-3012)Gac>Aac	p.D1004N	TRPM1_ENST00000397795.2_Missense_Mutation_p.D965N|RP11-348B17.1_ENST00000558755.1_RNA|TRPM1_ENST00000256552.6_Missense_Mutation_p.D987N|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	965					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TACAGCATGTCGATCATCTGA	0.483													T	31323354	C	T	31323354	3	4	364	1	0	0	0	0	1	0	0	0	16686	884	31	1	1942	1	TRPM1	15	31323354	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4879	31323354	71208038	10845	34347											
TRPM1	4308	broad.mit.edu	37	chr15	31334251	31334251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcttgcaggccaccagggCcttggccatgctctcttccc	5	9	11	16	0	1	0	0	0	1	0	3	1	2	0	5	3	3	3	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31334251C>T	ENST00000542188.1	-	16	2354	c.2041G>A	c.(2041-2043)Gcc>Acc	p.A681T	TRPM1_ENST00000397795.2_Missense_Mutation_p.A642T|TRPM1_ENST00000256552.6_Missense_Mutation_p.A664T|RP11-348B17.1_ENST00000561299.1_RNA	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	642					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GCCACCAGGGCCTTGGCCATG	0.562													T	31334251	C	T	31334251	3	4	364	1	0	0	0	0	1	0	0	0	16686	739	26	2	2935	2	TRPM1	15	31334251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10897	31334251	71197141	10846	34348											
TRPM1	4308	broad.mit.edu	37	chr15	31355430	31355430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcaggtattccaagaCgatggacaccacgttagggc	10	10	11	10	2	1	1	0	0	1	1	2	3	2	2	2	3	1	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31355430C>T	ENST00000542188.1	-	7	1220	c.907G>A	c.(907-909)Gtc>Atc	p.V303I	TRPM1_ENST00000397795.2_Missense_Mutation_p.V264I|TRPM1_ENST00000256552.6_Missense_Mutation_p.V286I	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	264					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TATTCCAAGACGATGGACACC	0.592													T	31355430	C	T	31355430	3	4	364	1	0	0	0	0	1	0	0	0	16686	536	19	1	4105	1	TRPM1	15	31355430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21179	31355430	71175962	10847	34349											
TRPM1	4308	broad.mit.edu	37	chr15	31362287	31362287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagaactccataggaatCtgttgggtagctctgggtgt	9	13	12	7	0	3	1	1	0	2	1	4	2	4	2	1	3	2	3	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31362287C>A	ENST00000542188.1	-	3	590	c.277G>T	c.(277-279)Gat>Tat	p.D93Y	TRPM1_ENST00000397795.2_Missense_Mutation_p.D54Y|TRPM1_ENST00000559179.1_Missense_Mutation_p.D54Y|TRPM1_ENST00000256552.6_Missense_Mutation_p.D76Y	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	54					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		CCATAGGAATCTGTTGGGTAG	0.483													A	31362287	C	A	31362287	3	1	364	1	0	0	0	0	1	0	0	0	16686	913	32	4	4751	4	TRPM1	15	31362287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6857	31362287	71169105	10848	34350											
OTUD7A	161725	broad.mit.edu	37	chr15	31862287	31862287	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccgggctgtggctctcGctctggctgcttgggacccc	1	10	15	15	2	2	0	0	0	2	0	3	1	2	1	3	4	2	5	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:31862287G>A	ENST00000382902.1	-	2	357	c.265C>T	c.(265-267)Cga>Tga	p.R89*	OTUD7A_ENST00000307050.4_Nonsense_Mutation_p.R89*			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	89						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding	p.R89*(1)		endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		TGTGGCTCTCGCTCTGGCTGC	0.642													A	31862287	G	A	31862287	4	1	364	1	0	0	0	0	0	1	0	0	11394	1095	38	1	2555	1	OTUD7A	15	31862287	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	500000	31862287	70669105	10849	34351											
CHRNA7	1139	broad.mit.edu	37	chr15	32460237	32460237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccagcacaagcagcggCgctgcagcctggccagtgtg	7	5	14	15	2	0	0	0	0	0	0	0	0	0	0	4	2	6	4	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32460237C>T	ENST00000306901.3	+	10	1184	c.1087C>T	c.(1087-1089)Cgc>Tgc	p.R363C	CHRNA7_ENST00000454250.3_Missense_Mutation_p.R392C|CHRNA7_ENST00000455693.2_Missense_Mutation_p.R182C	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	363					activation of MAPK activity|calcium ion transport|cellular calcium ion homeostasis|memory|negative regulation of tumor necrosis factor production|positive regulation of angiogenesis|positive regulation of cell proliferation|response to hypoxia|response to nicotine	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|beta-amyloid binding|chloride channel regulator activity|nicotinic acetylcholine-activated cation-selective channel activity|protein homodimerization activity|toxin binding			endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Nicotine(DB00184)|Varenicline(DB01273)	CAAGCAGCGGCGCTGCAGCCT	0.687													T	32460237	C	T	32460237	3	4	364	1	0	0	0	0	1	0	0	0	3418	768	27	1	1125	1	CHRNA7	15	32460237	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	597950	32460237	70071155	10850	34352											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32917784	32917784	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggctttgaagaaggtgAatatgaaactcctggtgaat	14	10	13	4	0	0	5	0	4	0	1	1	6	1	6	1	4	1	1	1	4	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32917784A>T	ENST00000361627.3	+	6	1534	c.812A>T	c.(811-813)gAa>gTa	p.E271V	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.E82V|ARHGAP11A_ENST00000567348.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000563864.1_Missense_Mutation_p.E271V|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.E82V	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	271					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GAAGAAGGTGAATATGAAACT	0.423													T	32917784	A	T	32917784	3	4	364	1	0	0	0	0	1	0	0	0	866	246	9	5	834	5	ARHGAP11A	15	32917784	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	457547	32917784	69613608	10851	34353											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32928743	32928743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttagcggggatgaaaataAcatgaccaaagagactttgg	15	9	11	6	1	1	3	0	2	1	1	1	5	1	4	1	3	2	0	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:32928743A>G	ENST00000361627.3	+	12	2491	c.1769A>G	c.(1768-1770)aAc>aGc	p.N590S	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.N401S|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.N401S	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	590					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		GATGAAAATAACATGACCAAA	0.383													G	32928743	A	G	32928743	3	3	364	1	0	0	0	0	1	0	0	0	866	43	2	3	1838	3	ARHGAP11A	15	32928743	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10959	32928743	69602649	10852	34354											
FMN1	342184	broad.mit.edu	37	chr15	33200738	33200738	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcttctttggatgtctcGtaatactttcttattttaac	7	22	4	8	1	5	0	0	0	5	0	6	1	5	1	0	1	2	1	0	1	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33200738G>A	ENST00000334528.9	-	8	2660	c.2661C>T	c.(2659-2661)taC>taT	p.Y887Y	FMN1_ENST00000561249.1_Silent_p.Y1012Y|FMN1_ENST00000559047.1_Silent_p.Y1110Y	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1110	FH1.|Pro-rich.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TGGATGTCTCGTAATACTTTC	0.353													A	33200738	G	A	33200738	2	1	364	1	0	0	0	0	0	0	0	1	5998	1140	40	1		1	FMN1	15	33200738	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271995	33200738	69330654	10853	34355											
FMN1	342184	broad.mit.edu	37	chr15	33261476	33261476	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttgaggaaggtctctCtgtctgtctggacgcacaca	8	10	13	10	1	4	1	0	1	4	0	5	3	4	3	0	4	0	2	0	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33261476C>A	ENST00000334528.9	-	4	1756	c.1757G>T	c.(1756-1758)aGa>aTa	p.R586I	FMN1_ENST00000561249.1_Missense_Mutation_p.R711I|FMN1_ENST00000559047.1_Missense_Mutation_p.R809I	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	809	Mediates interaction with alpha-catenin (By similarity).|Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GAAGGTCTCTCTGTCTGTCTG	0.468													A	33261476	C	A	33261476	3	1	364	1	0	0	0	0	1	0	0	0	5998	913	32	4	1889	4	FMN1	15	33261476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60738	33261476	69269916	10854	34356											
RYR3	6263	broad.mit.edu	37	chr15	33893742	33893742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagacacgactgattaaCgatgtaaccaggtaaggcca	14	7	10	10	2	0	2	0	1	0	1	0	4	0	2	2	2	3	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33893742C>T	ENST00000389232.4	+	17	1981	c.1911C>T	c.(1909-1911)aaC>aaT	p.N637N	RYR3_ENST00000415757.3_Silent_p.N637N	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	637	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACTGATTAACGATGTAACCA	0.507													T	33893742	C	T	33893742	2	4	364	1	0	0	0	0	0	0	0	1	13861	535	19	1		1	RYR3	15	33893742	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	632266	33893742	68637650	10855	34357											
RYR3	6263	broad.mit.edu	37	chr15	33955767	33955767	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagctatctctgcgaCtgtgagctgcagcaccgagt	7	10	10	14	2	2	1	1	1	1	0	4	3	3	1	2	0	5	4	2	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:33955767C>T	ENST00000389232.4	+	36	5518	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	RYR3_ENST00000415757.3_Silent_p.D1816D	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1816	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATCTCTGCGACTGTGAGCTGC	0.468													T	33955767	C	T	33955767	2	4	364	1	0	0	0	0	0	0	0	1	13861	564	20	2		2	RYR3	15	33955767	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62025	33955767	68575625	10856	34358											
RYR3	6263	broad.mit.edu	37	chr15	34042459	34042459	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggacctgtttaagttcCtccaagtgaatggcatcata	12	11	8	10	0	1	1	1	1	0	0	3	2	3	2	3	2	0	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34042459C>A	ENST00000389232.4	+	57	8441	c.8371C>A	c.(8371-8373)Ctc>Atc	p.L2791I	RYR3_ENST00000415757.3_Missense_Mutation_p.L2791I	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2791	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GTTTAAGTTCCTCCAAGTGAA	0.502													A	34042459	C	A	34042459	3	1	364	1	0	0	0	0	1	0	0	0	13861	681	24	4	8597	4	RYR3	15	34042459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86692	34042459	68488933	10857	34359											
RYR3	6263	broad.mit.edu	37	chr15	34078053	34078053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggggtcctgagaacctGccccccagcacagggccatg	8	4	14	15	1	0	1	0	1	0	1	1	3	1	1	6	3	4	1	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34078053G>A	ENST00000389232.4	+	66	9529	c.9459G>A	c.(9457-9459)ctG>ctA	p.L3153L	RYR3_ENST00000415757.3_Silent_p.L3153L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3153					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTGAGAACCTGCCCCCCAGCA	0.567													A	34078053	G	A	34078053	2	1	364	1	0	0	0	0	0	0	0	1	13861	1306	46	2		2	RYR3	15	34078053	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35594	34078053	68453339	10858	34360											
RYR3	6263	broad.mit.edu	37	chr15	34113774	34113774	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctggggatcgccattCtgaacggaggcaatgctggt	9	9	15	8	2	1	2	0	2	1	0	2	4	1	4	1	5	3	3	1	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34113774C>A	ENST00000389232.4	+	80	11036	c.10966C>A	c.(10966-10968)Ctg>Atg	p.L3656M	RYR3_ENST00000415757.3_Missense_Mutation_p.L3651M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3656					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GATCGCCATTCTGAACGGAGG	0.542													A	34113774	C	A	34113774	3	1	364	1	0	0	0	0	1	0	0	0	13861	912	32	4	11284	4	RYR3	15	34113774	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35721	34113774	68417618	10859	34361											
RYR3	6263	broad.mit.edu	37	chr15	34123219	34123219	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggacatcattgatgaatCtggacagcacaatttttcca	14	11	8	8	0	2	2	1	2	1	0	3	5	3	4	1	2	1	1	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34123219C>A	ENST00000389232.4	+	86	11460	c.11390C>A	c.(11389-11391)tCt>tAt	p.S3797Y	RYR3_ENST00000415757.3_Missense_Mutation_p.S3792Y	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	3797					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ATTGATGAATCTGGACAGCAC	0.383													A	34123219	C	A	34123219	3	1	364	1	0	0	0	0	1	0	0	0	13861	913	32	4	11732	4	RYR3	15	34123219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9445	34123219	68408173	10860	34362											
RYR3	6263	broad.mit.edu	37	chr15	34130616	34130616	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctgcatttgctatggcCtgtgcctctgtgaagaggaa	7	12	12	10	0	2	2	0	1	2	1	2	3	2	3	3	2	3	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130616C>A	ENST00000389232.4	+	89	12505	c.12435C>A	c.(12433-12435)gcC>gcA	p.A4145A	RYR3_ENST00000415757.3_Silent_p.A4140A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4145					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TTGCTATGGCCTGTGCCTCTG	0.493													A	34130616	C	A	34130616	2	1	364	1	0	0	0	0	0	0	0	1	13861	668	24	4		4	RYR3	15	34130616	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7397	34130616	68400776	10861	34363											
RYR3	6263	broad.mit.edu	37	chr15	34130920	34130920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttggtatccatgatgacActatggaggctgagagggca	12	10	13	6	0	0	3	0	3	0	1	1	5	1	4	1	4	0	3	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34130920A>G	ENST00000389232.4	+	89	12809	c.12739A>G	c.(12739-12741)Act>Gct	p.T4247A	RYR3_ENST00000415757.3_Missense_Mutation_p.T4242A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4247					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CCATGATGACACTATGGAGGC	0.502													G	34130920	A	G	34130920	3	3	364	1	0	0	0	0	1	0	0	0	13861	159	6	3	13093	3	RYR3	15	34130920	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	304	34130920	68400472	10862	34364											
CHRM5	1133	broad.mit.edu	37	chr15	34354990	34354990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcaccagcctttggaacgCcacaggttgtgggaagtcat	11	9	11	10	1	2	0	2	0	0	0	2	2	2	2	3	3	2	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34354990C>T	ENST00000383263.5	+	3	742	c.72C>T	c.(70-72)cgC>cgT	p.R24R	CHRM5_ENST00000557872.1_Silent_p.R24R	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	24					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CTTTGGAACGCCACAGGTTGT	0.473											OREG0023033	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	34354990	C	T	34354990	2	4	364	1	0	0	0	0	0	0	0	1	3410	726	26	2		2	CHRM5	15	34354990	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224070	34354990	68176402	10863	34365											
CHRM5	1133	broad.mit.edu	37	chr15	34355192	34355192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctacaccacctacatcCtcatgggacgctgggctctc	8	9	7	17	1	3	0	1	0	2	0	5	1	4	1	4	2	2	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355192C>T	ENST00000383263.5	+	3	944	c.274C>T	c.(274-276)Ctc>Ttc	p.L92F	CHRM5_ENST00000557872.1_Missense_Mutation_p.L92F	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	92					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	CACCTACATCCTCATGGGACG	0.517													T	34355192	C	T	34355192	3	4	364	1	0	0	0	0	1	0	0	0	3410	681	24	2	276	2	CHRM5	15	34355192	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202	34355192	68176200	10864	34366											
CHRM5	1133	broad.mit.edu	37	chr15	34355303	34355303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgatcagttttgaccgtTacttttccatcacaagaccc	9	14	7	11	1	2	3	2	2	0	1	3	3	3	3	3	1	1	2	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355303T>C	ENST00000383263.5	+	3	1055	c.385T>C	c.(385-387)Tac>Cac	p.Y129H	CHRM5_ENST00000557872.1_Missense_Mutation_p.Y129H	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	129					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	TTTTGACCGTTACTTTTCCAT	0.532													C	34355303	T	C	34355303	3	2	364	1	0	0	0	0	1	0	0	0	3410	1754	61	3	387	3	CHRM5	15	34355303	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	111	34355303	68176089	10865	34367											
CHRM5	1133	broad.mit.edu	37	chr15	34355585	34355585	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaccgggaaacagagaagCgaaccaaggacctggctgac	14	4	12	11	2	1	2	0	1	1	1	1	6	1	4	3	3	4	1	3	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34355585C>T	ENST00000383263.5	+	3	1337	c.667C>T	c.(667-669)Cga>Tga	p.R223*	CHRM5_ENST00000557872.1_Nonsense_Mutation_p.R223*	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	223					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	AACAGAGAAGCGAACCAAGGA	0.527													T	34355585	C	T	34355585	4	4	364	1	0	0	0	0	0	1	0	0	3410	760	27	1	669	1	CHRM5	15	34355585	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	282	34355585	68175807	10866	34368											
SLC12A6	9990	broad.mit.edu	37	chr15	34531196	34531196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttccaagcgcgggcatcttCgctttgacgccagccattag	7	10	10	14	4	1	1	0	1	1	0	3	1	2	1	3	1	2	2	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34531196C>T	ENST00000354181.3	-	20	3094	c.2602G>A	c.(2602-2604)Gaa>Aaa	p.E868K	SLC12A6_ENST00000560164.1_Missense_Mutation_p.E680K|SLC12A6_ENST00000397702.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000458406.2_Missense_Mutation_p.E809K|SLC12A6_ENST00000560611.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000290209.5_Missense_Mutation_p.E817K|SLC12A6_ENST00000451844.2_Missense_Mutation_p.E680K|SLC12A6_ENST00000558667.1_Missense_Mutation_p.E868K|SLC12A6_ENST00000397707.2_Missense_Mutation_p.E853K|SLC12A6_ENST00000558589.1_Missense_Mutation_p.E859K			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	868					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	p.E859K(1)|p.E817K(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	CGGGCATCTTCGCTTTGACGC	0.517													T	34531196	C	T	34531196	3	4	364	1	0	0	0	0	1	0	0	0	14481	893	31	1	878	1	SLC12A6	15	34531196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175611	34531196	68000196	10867	34369											
LPCAT4	254531	broad.mit.edu	37	chr15	34652402	34652402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggaagtccaccaaaccCttggtatcctggtgtgaaaa	11	10	9	11	1	1	1	0	1	1	0	4	2	3	2	4	3	1	1	4	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:34652402C>A	ENST00000314891.6	-	12	1329	c.1152G>T	c.(1150-1152)aaG>aaT	p.K384N		NM_153613.2	NP_705841.2	Q643R3	LPCT4_HUMAN	lysophosphatidylcholine acyltransferase 4	384					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity|calcium ion binding			NS(1)|breast(1)|large_intestine(2)|lung(5)|prostate(1)	10						CCACCAAACCCTTGGTATCCT	0.552													A	34652402	C	A	34652402	3	1	364	1	0	0	0	0	1	0	0	0	8983	680	24	4	434	4	LPCAT4	15	34652402	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121206	34652402	67878990	10868	34370											
AQR	9716	broad.mit.edu	37	chr15	35166166	35166166	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatggggtaagtttcctaGattcttgtatcgccagttgt	8	15	10	8	1	1	1	0	0	1	1	3	1	2	1	2	2	0	4	2	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35166166G>T	ENST00000156471.5	-	30	3685	c.3460C>A	c.(3460-3462)Cta>Ata	p.L1154I		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	1154						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		AAGTTTCCTAGATTCTTGTAT	0.388													T	35166166	G	T	35166166	3	4	364	1	0	0	0	0	1	0	0	0	838	933	33	4	1021	4	AQR	15	35166166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	513764	35166166	67365226	10869	34371											
AQR	9716	broad.mit.edu	37	chr15	35210528	35210528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctcagttggatacaaagGcatctggttcaactgctgaa	11	13	9	8	0	3	1	2	1	2	0	4	2	3	2	0	3	3	4	0	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35210528G>A	ENST00000156471.5	-	15	1498	c.1273C>T	c.(1273-1275)Cct>Tct	p.P425S		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	425						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		GGATACAAAGGCATCTGGTTC	0.368													A	35210528	G	A	35210528	3	1	364	1	0	0	0	0	1	0	0	0	838	1203	42	2	3268	2	AQR	15	35210528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44362	35210528	67320864	10870	34372											
ZNF770	54989	broad.mit.edu	37	chr15	35274890	35274890	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attctgtacgcctcttctttAataaaagagcccgaaaagcc	13	11	6	11	2	3	1	0	0	3	1	3	2	3	1	3	0	3	1	3	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35274890A>G	ENST00000356321.4	-	3	1090	c.746T>C	c.(745-747)tTa>tCa	p.L249S		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		CCTCTTCTTTAATAAAAGAGC	0.358													G	35274890	A	G	35274890	3	3	364	1	0	0	0	0	1	0	0	0	18243	372	13	3	1333	3	ZNF770	15	35274890	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	64362	35274890	67256502	10871	34373											
ZNF770	54989	broad.mit.edu	37	chr15	35275397	35275397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaatactacatttaaaaGgcagactatgagttagttga	17	11	8	5	0	0	3	0	2	0	1	0	4	0	3	0	1	2	3	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:35275397G>T	ENST00000356321.4	-	3	583	c.239C>A	c.(238-240)cCt>cAt	p.P80H		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	80					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		ACATTTAAAAGGCAGACTATG	0.353													T	35275397	G	T	35275397	3	4	364	1	0	0	0	0	1	0	0	0	18243	1000	35	4	1840	4	ZNF770	15	35275397	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507	35275397	67255995	10872	34374											
C15orf41	84529	broad.mit.edu	37	chr15	37100621	37100621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcaaagcctgtttccccacGaacattgtcaccttatgcca	10	11	5	15	1	2	0	2	0	0	0	3	1	3	0	5	0	3	1	5	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37100621G>A	ENST00000563167.1	+	2	259	c.100G>A	c.(100-102)Gaa>Aaa	p.E34K	C15orf41_ENST00000567389.1_Silent_p.T173T|C15orf41_ENST00000565792.1_3'UTR|CSNK1A1P1_ENST00000430593.3_RNA|C15orf41_ENST00000562877.1_Silent_p.T173T|C15orf41_ENST00000566621.1_Silent_p.T271T|C15orf41_ENST00000437989.2_Silent_p.T271T|C15orf41_ENST00000569302.1_Silent_p.T277T|C15orf41_ENST00000338183.4_Silent_p.T173T|C15orf41_ENST00000562489.1_Silent_p.T95T			Q9Y2V0	CO041_HUMAN	chromosome 15 open reading frame 41	0							protein binding			kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)	12		all_epithelial(112;3.06e-10)|Lung NSC(122;6.48e-08)|all_lung(180;8.31e-07)|Melanoma(134;0.222)		all cancers(64;1.76e-19)|GBM - Glioblastoma multiforme(113;5.03e-07)|BRCA - Breast invasive adenocarcinoma(123;0.11)		GTTTCCCCACGAACATTGTCA	0.493													A	37100621	G	A	37100621	3	1	364	1	0	0	0	0	1	0	0	0	1808	1045	37	1	855	1	C15orf41	15	37100621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1825224	37100621	65430771	10873	34375											
MEIS2	4212	broad.mit.edu	37	chr15	37329158	37329158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacactgttgtctaaaccatCccctagtagaaagaaataaa	17	10	5	9	0	1	2	0	0	1	2	2	2	2	2	3	0	2	2	3	0	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:37329158C>T	ENST00000338564.5	-	9	1203	c.757G>A	c.(757-759)Gat>Aat	p.D253N	MEIS2_ENST00000382766.2_Missense_Mutation_p.D253N|MEIS2_ENST00000559561.1_Missense_Mutation_p.D253N|MEIS2_ENST00000424352.2_Missense_Mutation_p.D253N|MEIS2_ENST00000340545.5_Missense_Mutation_p.D240N|MEIS2_ENST00000444725.1_Missense_Mutation_p.D253N|MEIS2_ENST00000397620.2_Missense_Mutation_p.D165N|MEIS2_ENST00000219869.9_Missense_Mutation_p.D107N|MEIS2_ENST00000557796.2_Missense_Mutation_p.D240N|MEIS2_ENST00000561208.1_Missense_Mutation_p.D253N|MEIS2_ENST00000559085.1_Missense_Mutation_p.D240N|MEIS2_ENST00000397624.3_Missense_Mutation_p.D165N	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	253	Asp/Glu-rich (acidic).				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		TCTAAACCATCCCCTAGTAGA	0.408													T	37329158	C	T	37329158	3	4	364	1	0	0	0	0	1	0	0	0	9543	855	30	2	759	2	MEIS2	15	37329158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228537	37329158	65202234	10874	34376											
SPRED1	161742	broad.mit.edu	37	chr15	38591666	38591666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagtggactaagcagcgTcactgtcttcaaagtccctc	10	9	11	11	1	3	0	2	0	1	0	5	2	4	2	1	2	2	1	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38591666T>C	ENST00000299084.4	+	2	985	c.125T>C	c.(124-126)gTc>gCc	p.V42A	SPRED1_ENST00000561205.1_3'UTR	NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	42	WH1.				inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		CTAAGCAGCGTCACTGTCTTC	0.458									Legius syndrome				C	38591666	T	C	38591666	3	2	364	1	0	0	0	0	1	0	0	0	15188	1667	58	3	131	3	SPRED1	15	38591666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1262508	38591666	63939726	10875	34377											
SPRED1	161742	broad.mit.edu	37	chr15	38643407	38643407	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtaaaaaatcagactatCtgtactcttgtggggatgag	14	11	10	6	0	3	2	1	1	2	1	3	3	3	3	0	2	1	2	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:38643407C>T	ENST00000299084.4	+	7	1737	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_152594.2	NP_689807.1	Q7Z699	SPRE1_HUMAN	sprouty-related, EVH1 domain containing 1	293					inactivation of MAPK activity|multicellular organismal development	caveola|nucleus	stem cell factor receptor binding			kidney(6)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(109;4.88e-13)|all_epithelial(112;1.83e-11)|Lung NSC(122;2.21e-09)|all_lung(180;4.64e-08)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(113;2.41e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0244)		ATCAGACTATCTGTACTCTTG	0.378									Legius syndrome				T	38643407	C	T	38643407	2	4	364	1	0	0	0	0	0	0	0	1	15188	912	32	2		2	SPRED1	15	38643407	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51741	38643407	63887985	10876	34378											
C15orf54	400360	broad.mit.edu	37	chr15	39544356	39544356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggaagtgaaattcattaCtggcaagcacggtggcagga	13	8	13	7	1	1	1	1	1	0	0	1	3	1	3	0	5	2	3	0	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39544356C>A	ENST00000318578.3	+	2	388	c.20C>A	c.(19-21)aCt>aAt	p.T7N	RP11-624L4.1_ENST00000561058.1_RNA|RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.T7N	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	7										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		AAATTCATTACTGGCAAGCAC	0.473													A	39544356	C	A	39544356	3	1	364	1	0	0	0	0	1	0	0	0	1815	565	20	4	22	4	C15orf54	15	39544356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	900949	39544356	62987036	10877	34379											
THBS1	7057	broad.mit.edu	37	chr15	39874935	39874935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcatcgcaaaggggggCgtcaatgacaatttccaggt	10	8	12	11	3	1	1	1	1	0	0	4	1	3	1	2	4	0	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39874935C>T	ENST00000260356.5	+	3	774	c.609C>T	c.(607-609)ggC>ggT	p.G203G		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	203	TSP N-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAAAGGGGGGCGTCAATGACA	0.557													T	39874935	C	T	39874935	2	4	364	1	0	0	0	0	0	0	0	1	15953	755	27	1		1	THBS1	15	39874935	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	330579	39874935	62656457	10878	34380											
THBS1	7057	broad.mit.edu	37	chr15	39883813	39883813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgccccttggaacacAatccggatcaggtaggtgga	12	8	11	10	1	1	0	1	0	0	0	2	3	2	3	3	5	2	1	3	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:39883813A>G	ENST00000260356.5	+	16	2686	c.2521A>G	c.(2521-2523)Aat>Gat	p.N841D		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	841					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CTTGGAACACAATCCGGATCA	0.453													G	39883813	A	G	39883813	3	3	364	1	0	0	0	0	1	0	0	0	15953	130	5	3	2579	3	THBS1	15	39883813	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8878	39883813	62647579	10879	34381											
EIF2AK4	440275	broad.mit.edu	37	chr15	40265883	40265883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagacacagagacagttttCccgatacttcattgagtttg	11	13	9	8	1	1	3	1	2	0	2	2	6	2	3	1	0	1	2	1	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40265883C>T	ENST00000263791.5	+	11	1794	c.1751C>T	c.(1750-1752)tCc>tTc	p.S584F	EIF2AK4_ENST00000382727.2_Missense_Mutation_p.S584F|EIF2AK4_ENST00000559624.1_Missense_Mutation_p.S584F	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	584					translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AGACAGTTTTCCCGATACTTC	0.428													T	40265883	C	T	40265883	3	4	364	1	0	0	0	0	1	0	0	0	5038	855	30	2	1793	2	EIF2AK4	15	40265883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382070	40265883	62265509	10880	34382											
BUB1B	701	broad.mit.edu	37	chr15	40457360	40457360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagggagcactggcacaaGaatctgcctgtaacaatact	13	9	9	10	0	2	1	1	0	1	1	2	2	2	2	1	2	4	3	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40457360G>A	ENST00000287598.6	+	2	337	c.142G>A	c.(142-144)Gaa>Aaa	p.E48K	BUB1B_ENST00000560120.1_Intron|BUB1B_ENST00000412359.3_Missense_Mutation_p.E48K	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	48					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		ACTGGCACAAGAATCTGCCTG	0.473			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				A	40457360	G	A	40457360	3	1	364	1	0	0	0	0	1	0	0	0	1581	943	33	2	148	2	BUB1B	15	40457360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	191477	40457360	62074032	10881	34383											
PAK6	56924	broad.mit.edu	37	chr15	40564517	40564517	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggaccagccggtggggacCttcagccctctgaccacttc	6	8	11	16	2	2	1	1	1	1	0	4	3	2	3	5	4	2	0	5	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40564517C>A	ENST00000455577.2	+	6	1863	c.951C>A	c.(949-951)acC>acA	p.T317T	PAK6_ENST00000260404.4_Silent_p.T317T|PAK6_ENST00000441369.1_Silent_p.T317T|PAK6_ENST00000542403.2_Silent_p.T317T|PAK6_ENST00000453867.1_Silent_p.T317T|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Silent_p.T317T	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	317	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CGGTGGGGACCTTCAGCCCTC	0.677													A	40564517	C	A	40564517	2	1	364	1	0	0	0	0	0	0	0	1	11480	668	24	4		4	PAK6	15	40564517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107157	40564517	61966875	10882	34384											
PAK6	56924	broad.mit.edu	37	chr15	40565608	40565608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggccctggcctacctgCatgctcagggtgtcatccac	6	9	11	15	0	2	0	2	0	0	0	3	0	3	0	4	3	4	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40565608C>T	ENST00000455577.2	+	8	2464	c.1552C>T	c.(1552-1554)Cat>Tat	p.H518Y	PAK6_ENST00000260404.4_Missense_Mutation_p.H518Y|PAK6_ENST00000441369.1_Missense_Mutation_p.H518Y|PAK6_ENST00000542403.2_Missense_Mutation_p.H518Y|PAK6_ENST00000453867.1_Missense_Mutation_p.H518Y|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000560346.1_Missense_Mutation_p.H518Y	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	518	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		GGCCTACCTGCATGCTCAGGG	0.607													T	40565608	C	T	40565608	3	4	364	1	0	0	0	0	1	0	0	0	11480	710	25	2	1570	2	PAK6	15	40565608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1091	40565608	61965784	10883	34385											
DISP2	85455	broad.mit.edu	37	chr15	40657910	40657910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatccattccatgtgtcGcatggaacaggaccaggtga	10	9	11	11	1	0	1	0	1	0	0	3	3	2	3	4	3	2	1	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40657910G>A	ENST00000267889.3	+	7	1016	c.929G>A	c.(928-930)cGc>cAc	p.R310H		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	310					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TCCATGTGTCGCATGGAACAG	0.562													A	40657910	G	A	40657910	3	1	364	1	0	0	0	0	1	0	0	0	4579	1087	38	1	955	1	DISP2	15	40657910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92302	40657910	61873482	10884	34386											
DISP2	85455	broad.mit.edu	37	chr15	40661824	40661824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacagcccctggcacggCgtcggagccccagctttgac	7	6	12	16	3	0	1	0	1	0	0	1	2	0	2	4	3	5	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40661824C>T	ENST00000267889.3	+	8	3598	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1171					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCTGGCACGGCGTCGGAGCCC	0.652													T	40661824	C	T	40661824	3	4	364	1	0	0	0	0	1	0	0	0	4579	768	27	1	3541	1	DISP2	15	40661824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3914	40661824	61869568	10885	34387											
C15orf57	90416	broad.mit.edu	37	chr15	40855059	40855059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtcagccacctccctctgGccttcaccttcagggcaaga	9	8	8	16	0	4	1	3	0	1	1	5	1	5	1	5	2	1	1	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40855059G>A	ENST00000358005.3	-	2	429	c.156C>T	c.(154-156)ggC>ggT	p.G52G	C15orf57_ENST00000558113.1_Silent_p.G52G|C15orf57_ENST00000560305.1_Silent_p.G52G|C15orf57_ENST00000558750.1_Silent_p.G61G|C15orf57_ENST00000559911.1_Silent_p.G52G|C15orf57_ENST00000416810.2_Silent_p.G52G|C15orf57_ENST00000558871.1_Silent_p.G52G|C15orf57_ENST00000560109.1_5'UTR|C15orf57_ENST00000561011.1_Silent_p.G52G	NM_001080791.1|NM_052849.2	NP_001074260.1|NP_443081.1	Q9BV29	CO057_HUMAN	chromosome 15 open reading frame 57	52										endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	9						CCTCCCTCTGGCCTTCACCTT	0.493													A	40855059	G	A	40855059	2	1	364	1	0	0	0	0	0	0	0	1	1818	1190	42	2		2	C15orf57	15	40855059	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193235	40855059	61676333	10886	34388											
CASC5	57082	broad.mit.edu	37	chr15	40913832	40913832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatttgctaaagcatgacaGtaattatgctaaaatgtatt	17	14	6	4	0	0	1	0	1	0	0	0	1	0	1	0	0	3	5	0	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40913832G>T	ENST00000346991.5	+	11	1838	c.1448G>T	c.(1447-1449)aGt>aTt	p.S483I	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.S457I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	483	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AAGCATGACAGTAATTATGCT	0.358													T	40913832	G	T	40913832	3	4	364	1	0	0	0	0	1	0	0	0	2689	1029	36	4	1486	4	CASC5	15	40913832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58773	40913832	61617560	10887	34389											
CASC5	57082	broad.mit.edu	37	chr15	40915861	40915861	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcactaggagtcacacAactgccttagaatgtaaaac	16	8	8	9	0	2	2	2	0	0	2	2	4	2	3	1	1	3	1	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40915861A>G	ENST00000346991.5	+	11	3867	c.3477A>G	c.(3475-3477)acA>acG	p.T1159T	CASC5_ENST00000399668.2_Silent_p.T1133T			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	1159	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		GGAGTCACACAACTGCCTTAG	0.428													G	40915861	A	G	40915861	2	3	364	1	0	0	0	0	0	0	0	1	2689	117	5	3		3	CASC5	15	40915861	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2029	40915861	61615531	10888	34390											
CASC5	57082	broad.mit.edu	37	chr15	40949590	40949590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtagtgcaccattgcaGactccttggagaggagattg	10	10	13	8	0	0	3	0	0	0	3	1	5	1	3	2	3	2	3	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:40949590G>T	ENST00000346991.5	+	25	7100	c.6710G>T	c.(6709-6711)aGa>aTa	p.R2237I	CASC5_ENST00000399668.2_Missense_Mutation_p.R2211I			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	2237	Necessary for kinetochore localization and for interaction with NSL1 and DSN1.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		CACCATTGCAGACTCCTTGGA	0.343													T	40949590	G	T	40949590	3	4	364	1	0	0	0	0	1	0	0	0	2689	942	33	4	6804	4	CASC5	15	40949590	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33729	40949590	61581802	10889	34391											
ZFYVE19	84936	broad.mit.edu	37	chr15	41105049	41105049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgaggcaggaacggattCtggccctggccaagcgacta	11	5	13	12	3	1	0	0	0	1	0	1	4	1	2	2	5	2	1	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41105049C>A	ENST00000355341.4	+	7	1480	c.979C>A	c.(979-981)Ctg>Atg	p.L327M	ZFYVE19_ENST00000564258.1_Missense_Mutation_p.L152M|ZFYVE19_ENST00000299173.10_Intron|ZFYVE19_ENST00000570108.1_Missense_Mutation_p.L304M|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.L317M	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	327							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGAACGGATTCTGGCCCTGGC	0.622													A	41105049	C	A	41105049	3	1	364	1	0	0	0	0	1	0	0	0	17766	912	32	4	1005	4	ZFYVE19	15	41105049	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155459	41105049	61426343	10890	34392											
PPP1R14D	54866	broad.mit.edu	37	chr15	41107959	41107959	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcagctcagagataaaagCctgagggagaaacaggagtg	16	4	15	6	0	1	3	1	1	0	2	1	7	1	4	1	2	4	2	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41107959C>T	ENST00000299174.5	-	4	440	c.373G>A	c.(373-375)Gct>Act	p.A125T	PPP1R14D_ENST00000427255.2_Splice_Site_p.R163R	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	125					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity			breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		GAGATAAAAGCCTGAGGGAGA	0.562													T	41107959	C	T	41107959	5	4	364	1	0	0	0	0	0	0	1	0	12444	753	26	2	117	2	PPP1R14D	15	41107959	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2910	41107959	61423433	10891	34393											
VPS18	57617	broad.mit.edu	37	chr15	41192696	41192696	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacacatggtgtactttgcAgtgatcatgcaggactatga	12	11	11	7	0	1	2	1	2	0	0	1	4	1	3	0	2	4	3	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41192696A>G	ENST00000220509.5	+	4	2019	c.1680A>G	c.(1678-1680)gcA>gcG	p.A560A	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	560					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		TGTACTTTGCAGTGATCATGC	0.627													G	41192696	A	G	41192696	2	3	364	1	0	0	0	0	0	0	0	1	17296	175	7	3		3	VPS18	15	41192696	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	84737	41192696	61338696	10892	34394											
DLL4	54567	broad.mit.edu	37	chr15	41228901	41228901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccatgaacaacttgtcGgacttccagaaggacaacct	14	7	9	11	1	0	2	0	1	0	1	2	5	1	4	3	2	4	0	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41228901G>A	ENST00000249749.5	+	9	1992	c.1716G>A	c.(1714-1716)tcG>tcA	p.S572S		NM_019074.3	NP_061947.1	Q9NR61	DLL4_HUMAN	delta-like 4 (Drosophila)	572					blood circulation|cell communication|cell differentiation|Notch receptor processing|Notch signaling pathway	integral to membrane|plasma membrane	calcium ion binding|Notch binding			breast(3)|large_intestine(1)	4		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAACTTGTCGGACTTCCAGA	0.587													A	41228901	G	A	41228901	2	1	364	1	0	0	0	0	0	0	0	1	4607	1103	39	1		1	DLL4	15	41228901	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36205	41228901	61302491	10893	34395											
CHAC1	79094	broad.mit.edu	37	chr15	41247771	41247771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttacctgggccctgcGcctgaagaggccattgccac	6	8	12	15	1	0	2	0	1	0	1	0	2	0	2	6	3	3	1	6	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41247771G>A	ENST00000446533.3	+	3	903	c.594G>A	c.(592-594)gcG>gcA	p.A198A	CHAC1_ENST00000444189.2_Silent_p.A153A|CHAC1_ENST00000487220.1_5'UTR	NM_001142776.1|NM_024111.3	NP_001136248.1|NP_077016.2	Q9BUX1	CHAC1_HUMAN	ChaC, cation transport regulator homolog 1 (E. coli)	198					apoptosis in response to endoplasmic reticulum stress|response to unfolded protein	cytosol	protein binding			endometrium(1)|large_intestine(1)|skin(1)	3		all_cancers(109;1.42e-13)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.66e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.163)		TGGGCCCTGCGCCTGAAGAGG	0.597													A	41247771	G	A	41247771	2	1	364	1	0	0	0	0	0	0	0	1	3338	1074	38	1		1	CHAC1	15	41247771	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18870	41247771	61283621	10894	34396											
INO80	54617	broad.mit.edu	37	chr15	41339616	41339616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctctcacctggccaaaaGtccctgaagcataaggtttg	12	9	8	12	0	1	1	1	1	1	0	3	1	2	1	4	2	2	2	4	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41339616G>A	ENST00000361937.3	-	23	3149	c.2725C>T	c.(2725-2727)Ctt>Ttt	p.L909F	INO80_ENST00000401393.3_Missense_Mutation_p.L909F			Q9ULG1	INO80_HUMAN	INO80 complex subunit	909	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTGGCCAAAAGTCCCTGAAGC	0.343													A	41339616	G	A	41339616	3	1	364	1	0	0	0	0	1	0	0	0	7804	1029	36	2	2001	2	INO80	15	41339616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91845	41339616	61191776	10895	34397											
INO80	54617	broad.mit.edu	37	chr15	41347563	41347563	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcagcagagcccaaagCtgtaaacaaagacaaaaatg	21	4	8	8	0	0	2	0	0	0	2	0	2	0	2	1	0	5	4	1	0	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41347563C>A	ENST00000361937.3	-	18	2495		c.e18-1		INO80_ENST00000401393.3_Splice_Site			Q9ULG1	INO80_HUMAN	INO80 complex subunit						cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAGCCCAAAGCTGTAAACAAA	0.353													A	41347563	C	A	41347563	5	1	364	1	0	0	0	0	0	0	1	0	7804	811	28	4	2676	4	INO80	15	41347563	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7947	41347563	61183829	10896	34398											
INO80	54617	broad.mit.edu	37	chr15	41372072	41372072	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggcctgcaaggcagctcGacgcacctccttcatgcact	7	8	10	16	2	1	0	1	0	0	0	3	1	2	0	3	2	3	5	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41372072G>A	ENST00000361937.3	-	9	1382	c.958C>T	c.(958-960)Cga>Tga	p.R320*	INO80_ENST00000401393.3_Nonsense_Mutation_p.R320*			Q9ULG1	INO80_HUMAN	INO80 complex subunit	320	Assembles INO80 complex module consisting of conserved components ACTR8, ACTL6A and YY1.|DBINO.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						AAGGCAGCTCGACGCACCTCC	0.517													A	41372072	G	A	41372072	4	1	364	1	0	0	0	0	0	1	0	0	7804	1066	37	1	3824	1	INO80	15	41372072	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24509	41372072	61159320	10897	34399											
EXD1	161829	broad.mit.edu	37	chr15	41488137	41488137	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttatatacttaccttcaaAattctcttgtcttctagtat	10	20	3	8	0	4	0	1	0	3	0	5	0	4	0	1	0	2	2	1	0	8	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41488137A>C	ENST00000314992.5	-	6	649	c.459T>G	c.(457-459)atT>atG	p.I153M	EXD1_ENST00000458580.2_Missense_Mutation_p.I211M	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	153					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TTACCTTCAAAATTCTCTTGT	0.388													C	41488137	A	C	41488137	3	2	364	1	0	0	0	0	1	0	0	0	5338	10	1	5	1105	5	EXD1	15	41488137	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	116065	41488137	61043255	10898	34400											
NUSAP1	51203	broad.mit.edu	37	chr15	41667964	41667964	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagactccagtctccaataAgaaaccagtgtttgatctta	13	11	7	10	0	2	3	0	1	2	2	4	3	3	3	3	0	1	2	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41667964A>G	ENST00000260359.6	+	9	1280	c.1016A>G	c.(1015-1017)aAg>aGg	p.K339R	NUSAP1_ENST00000559596.1_Missense_Mutation_p.K354R|NUSAP1_ENST00000414849.2_Missense_Mutation_p.K353R|NUSAP1_ENST00000450318.1_Intron|NUSAP1_ENST00000450592.2_Intron|NUSAP1_ENST00000558123.1_Intron|NUSAP1_ENST00000560747.1_Missense_Mutation_p.K352R|NUSAP1_ENST00000560177.1_Missense_Mutation_p.K353R	NM_001243142.1|NM_001243143.1|NM_016359.4|NM_018454.7	NP_001230071.1|NP_001230072.1|NP_057443.2|NP_060924.4	Q9BXS6	NUSAP_HUMAN	nucleolar and spindle associated protein 1	354	Interaction with microtubules (By similarity).				cytokinesis after mitosis|establishment of mitotic spindle localization|mitotic chromosome condensation|positive regulation of mitosis	chromosome|cytoplasm|nucleolus	DNA binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)|ovary(1)|prostate(2)|urinary_tract(2)	13		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;9.63e-17)|GBM - Glioblastoma multiforme(113;1.59e-06)|BRCA - Breast invasive adenocarcinoma(123;0.168)		GTCTCCAATAAGAAACCAGTG	0.408													G	41667964	A	G	41667964	3	3	364	1	0	0	0	0	1	0	0	0	10854	72	3	3	1095	3	NUSAP1	15	41667964	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	179827	41667964	60863428	10899	34401											
NDUFAF1	51103	broad.mit.edu	37	chr15	41688736	41688736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttcgggtagactccccGtcctgaggcgcctcagagct	6	8	11	16	3	1	3	1	1	0	2	4	3	3	3	5	2	1	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41688736G>A	ENST00000260361.4	-	2	903	c.522C>T	c.(520-522)gaC>gaT	p.D174D		NM_016013.3	NP_057097.2	Q9Y375	CIA30_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 1	174					mitochondrial electron transport, NADH to ubiquinone|protein complex assembly	mitochondrial respiratory chain complex I	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	12		all_cancers(109;5.07e-19)|all_epithelial(112;2.43e-16)|Lung NSC(122;1.81e-11)|all_lung(180;4.81e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;8e-17)|GBM - Glioblastoma multiforme(113;1.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.114)		TAGACTCCCCGTCCTGAGGCG	0.488													A	41688736	G	A	41688736	2	1	364	1	0	0	0	0	0	0	0	1	10350	1136	40	1		1	NDUFAF1	15	41688736	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20772	41688736	60842656	10900	34402											
RTF1	23168	broad.mit.edu	37	chr15	41749993	41749993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggagatgaggaagacagggCccgtctggaacagatgacag	13	4	17	7	1	1	5	0	2	1	3	1	8	1	7	1	4	1	0	1	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41749993C>T	ENST00000389629.4	+	4	593	c.581C>T	c.(580-582)gCc>gTc	p.A194V		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	194	Glu-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GAAGACAGGGCCCGTCTGGAA	0.478													T	41749993	C	T	41749993	3	4	364	1	0	0	0	0	1	0	0	0	13812	739	26	2	595	2	RTF1	15	41749993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61257	41749993	60781399	10901	34403											
LTK	4058	broad.mit.edu	37	chr15	41797252	41797252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcaggcagttccgggCggcaatatccctacagagta	10	7	12	12	2	1	1	1	0	0	1	3	1	3	1	2	3	2	6	2	3	4	4	rs145997165		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797252C>T	ENST00000263800.6	-	16	2032	c.1936G>A	c.(1936-1938)Gcc>Acc	p.A646T	LTK_ENST00000355166.5_Missense_Mutation_p.A585T|LTK_ENST00000453182.2_Missense_Mutation_p.A516T|LTK_ENST00000561619.1_Missense_Mutation_p.A344T	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	646	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CAGTTCCGGGCGGCAATATCC	0.527										TSP Lung(18;0.14)			T	41797252	C	T	41797252	3	4	364	1	0	0	0	0	1	0	0	0	9150	768	27	1	678	1	LTK	15	41797252	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47259	41797252	60734140	10902	34404											
LTK	4058	broad.mit.edu	37	chr15	41797698	41797698	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaggctgagccccacAcaccgcacaatgttctgatg	9	7	10	15	1	1	3	0	3	1	0	1	3	1	3	4	1	1	3	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41797698A>C	ENST00000263800.6	-	14	1824	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	LTK_ENST00000355166.5_Missense_Mutation_p.C515W|LTK_ENST00000453182.2_Missense_Mutation_p.C446W|LTK_ENST00000561619.1_Missense_Mutation_p.C274W	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	576	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		TGAGCCCCACACACCGCACAA	0.577										TSP Lung(18;0.14)			C	41797698	A	C	41797698	3	2	364	1	0	0	0	0	1	0	0	0	9150	157	6	5	894	5	LTK	15	41797698	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	446	41797698	60733694	10903	34405											
LTK	4058	broad.mit.edu	37	chr15	41799345	41799345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgacacctggtggcagagGccaggactgggccgggccaa	8	4	18	11	1	0	2	0	1	0	1	0	3	0	3	4	7	0	1	4	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41799345G>A	ENST00000263800.6	-	11	1585	c.1489C>T	c.(1489-1491)Cct>Tct	p.P497S	LTK_ENST00000355166.5_Missense_Mutation_p.P436S|LTK_ENST00000453182.2_Missense_Mutation_p.A397V|LTK_ENST00000561619.1_Missense_Mutation_p.P195S	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	497					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GGTGGCAGAGGCCAGGACTGG	0.582										TSP Lung(18;0.14)			A	41799345	G	A	41799345	3	1	364	1	0	0	0	0	1	0	0	0	9150	1203	42	2	1145	2	LTK	15	41799345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1647	41799345	60732047	10904	34406											
MGA	23269	broad.mit.edu	37	chr15	41988656	41988656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccagaagcacagttaagaTttctgaactccccgataaca	15	8	6	12	1	1	3	0	1	1	2	2	4	2	3	3	0	3	2	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41988656T>C	ENST00000219905.7	+	3	1629	c.1448T>C	c.(1447-1449)aTt>aCt	p.I483T	MGA_ENST00000568630.1_3'UTR|MGA_ENST00000545763.1_Missense_Mutation_p.I483T|MGA_ENST00000389936.4_Missense_Mutation_p.I483T|MGA_ENST00000566586.1_Missense_Mutation_p.I483T|MGA_ENST00000570161.1_Missense_Mutation_p.I483T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	483						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		ACAGTTAAGATTTCTGAACTC	0.398													C	41988656	T	C	41988656	3	2	364	1	0	0	0	0	1	0	0	0	9615	1493	52	3	1454	3	MGA	15	41988656	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	189311	41988656	60542736	10905	34407											
MGA	23269	broad.mit.edu	37	chr15	41989149	41989149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aatacacctgtaagccctggGagtacctttccagatgtgaa	12	10	9	10	0	0	2	0	1	0	1	1	3	1	3	4	1	3	2	4	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:41989149G>A	ENST00000219905.7	+	3	2122	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	MGA_ENST00000545763.1_Silent_p.G647G|MGA_ENST00000389936.4_Silent_p.G647G|MGA_ENST00000566586.1_Silent_p.G647G|MGA_ENST00000570161.1_Silent_p.G647G	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	647						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TAAGCCCTGGGAGTACCTTTC	0.408													A	41989149	G	A	41989149	2	1	364	1	0	0	0	0	0	0	0	1	9615	1161	41	2		2	MGA	15	41989149	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	493	41989149	60542243	10906	34408											
MGA	23269	broad.mit.edu	37	chr15	42042025	42042025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagaatatggggctaggaatCgtaagagttccaaagaaaaa	19	7	11	4	1	0	3	0	0	0	3	2	4	1	4	1	3	0	3	1	3	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042025C>T	ENST00000219905.7	+	17	6401	c.6220C>T	c.(6220-6222)Cgt>Tgt	p.R2074C	MGA_ENST00000545763.1_Missense_Mutation_p.R1865C|MGA_ENST00000389936.4_Missense_Mutation_p.R2035C|MGA_ENST00000566586.1_Missense_Mutation_p.R1865C|MGA_ENST00000570161.1_Missense_Mutation_p.R2074C	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2035						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GGCTAGGAATCGTAAGAGTTC	0.378													T	42042025	C	T	42042025	3	4	364	1	0	0	0	0	1	0	0	0	9615	884	31	1	6282	1	MGA	15	42042025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52876	42042025	60489367	10907	34409											
MGA	23269	broad.mit.edu	37	chr15	42042740	42042740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagatgataatgagaaaaCtgatgattctattgatgaaa	18	12	9	2	0	1	8	0	7	1	2	1	9	1	8	0	0	1	0	0	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42042740C>T	ENST00000219905.7	+	17	7116	c.6935C>T	c.(6934-6936)aCt>aTt	p.T2312I	MGA_ENST00000545763.1_Missense_Mutation_p.T2103I|MGA_ENST00000389936.4_Missense_Mutation_p.T2273I|MGA_ENST00000566586.1_Missense_Mutation_p.T2103I|MGA_ENST00000570161.1_Missense_Mutation_p.T2312I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2273						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAGAAAACTGATGATTCT	0.403													T	42042740	C	T	42042740	3	4	364	1	0	0	0	0	1	0	0	0	9615	565	20	2	6997	2	MGA	15	42042740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	715	42042740	60488652	10908	34410											
MGA	23269	broad.mit.edu	37	chr15	42058262	42058262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gacatcattggccacagaggGaggtttggtagatatgggtg	10	10	16	5	0	1	2	1	0	0	2	1	4	1	3	1	5	0	2	1	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058262G>A	ENST00000219905.7	+	24	8163	c.7982G>A	c.(7981-7983)gGa>gAa	p.G2661E	MGA_ENST00000545763.1_Missense_Mutation_p.G2452E|MGA_ENST00000389936.4_Missense_Mutation_p.G2622E|MGA_ENST00000566586.1_Missense_Mutation_p.G2452E|MGA_ENST00000570161.1_Missense_Mutation_p.G2661E	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2622						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GCCACAGAGGGAGGTTTGGTA	0.368													A	42058262	G	A	42058262	3	1	364	1	0	0	0	0	1	0	0	0	9615	1174	41	2	8072	2	MGA	15	42058262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15522	42058262	60473130	10909	34411											
MGA	23269	broad.mit.edu	37	chr15	42058358	42058358	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccgtcaggaatgaagataAttccttagaggataagggta	15	9	11	6	1	1	3	1	1	0	2	2	5	2	5	2	3	0	1	2	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42058358A>C	ENST00000219905.7	+	24	8259	c.8078A>C	c.(8077-8079)aAt>aCt	p.N2693T	MGA_ENST00000545763.1_Missense_Mutation_p.N2484T|MGA_ENST00000389936.4_Missense_Mutation_p.N2654T|MGA_ENST00000566586.1_Missense_Mutation_p.N2484T|MGA_ENST00000570161.1_Missense_Mutation_p.N2693T	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2654						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AATGAAGATAATTCCTTAGAG	0.458													C	42058358	A	C	42058358	3	2	364	1	0	0	0	0	1	0	0	0	9615	101	4	5	8168	5	MGA	15	42058358	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	96	42058358	60473034	10910	34412											
MAPKBP1	23005	broad.mit.edu	37	chr15	42109134	42109134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgctagcatcggcgagcCgggaccggctgatccatgtg	8	7	14	12	4	0	1	0	1	0	0	2	3	1	2	3	3	4	3	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42109134C>T	ENST00000457542.2	+	14	1898	c.1612C>T	c.(1612-1614)Cgg>Tgg	p.R538W	MAPKBP1_ENST00000456763.2_Missense_Mutation_p.R544W|MAPKBP1_ENST00000260357.7_Missense_Mutation_p.R377W|MAPKBP1_ENST00000514566.1_Missense_Mutation_p.R538W|MAPKBP1_ENST00000221214.6_Missense_Mutation_p.R421W	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	544										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		ATCGGCGAGCCGGGACCGGCT	0.582													T	42109134	C	T	42109134	3	4	364	1	0	0	0	0	1	0	0	0	9367	643	23	1	1684	1	MAPKBP1	15	42109134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50776	42109134	60422258	10911	34413											
MAPKBP1	23005	broad.mit.edu	37	chr15	42113212	42113212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcgctggccatcatcccAtctggtcccaggaagcatgg	8	8	11	14	1	2	0	1	0	1	0	5	2	4	1	3	4	1	2	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42113212A>G	ENST00000457542.2	+	23	2950	c.2664A>G	c.(2662-2664)ccA>ccG	p.P888P	MAPKBP1_ENST00000456763.2_Silent_p.P894P|MAPKBP1_ENST00000260357.7_Silent_p.P727P|MAPKBP1_ENST00000514566.1_Silent_p.P888P|MAPKBP1_ENST00000221214.6_Silent_p.P771P	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	894										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		CCATCATCCCATCTGGTCCCA	0.592													G	42113212	A	G	42113212	2	3	364	1	0	0	0	0	0	0	0	1	9367	204	8	3		3	MAPKBP1	15	42113212	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4078	42113212	60418180	10912	34414											
PLA2G4B	100137049	broad.mit.edu	37	chr15	42133259	42133259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctctcttcccagggtgagGggcgcctggaagttgaattt	6	11	15	9	1	1	2	0	2	1	0	3	3	2	3	2	5	0	2	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42133259G>T	ENST00000542534.2	+	10	1091	c.1051G>T	c.(1051-1053)Ggg>Tgg	p.G351W	JMJD7-PLA2G4B_ENST00000382448.4_Missense_Mutation_p.G351W|PLA2G4B_ENST00000452633.1_Missense_Mutation_p.G120W|PLA2G4B_ENST00000458483.1_Missense_Mutation_p.G120W|JMJD7-PLA2G4B_ENST00000342159.4_Missense_Mutation_p.G351W	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		CCAGGGTGAGGGGCGCCTGGA	0.557													T	42133259	G	T	42133259	3	4	364	1	0	0	0	0	1	0	0	0	12079	1232	43	4	376	4	PLA2G4B	15	42133259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20047	42133259	60398133	10913	34415											
PLA2G4B	100137049	broad.mit.edu	37	chr15	42138145	42138145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggccgctctttcaggtatCtggagcaacctgtatgcagc	8	10	11	12	2	3	0	1	0	2	0	3	1	3	1	2	3	4	5	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42138145C>T	ENST00000542534.2	+	21	2233	c.2193C>T	c.(2191-2193)atC>atT	p.I731I	JMJD7-PLA2G4B_ENST00000382448.4_Silent_p.I731I|PLA2G4B_ENST00000452633.1_Silent_p.I500I|PLA2G4B_ENST00000458483.1_Silent_p.I500I|JMJD7-PLA2G4B_ENST00000342159.4_Silent_p.I731I	NM_005090.3	NP_005081.1			phospholipase A2, group IVB (cytosolic)														all_cancers(109;1.84e-13)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		all cancers(2;1.08e-30)|Epithelial(2;1.43e-22)|OV - Ovarian serous cystadenocarcinoma(18;1.13e-17)|GBM - Glioblastoma multiforme(94;9.77e-07)|Colorectal(2;0.0129)|COAD - Colon adenocarcinoma(120;0.0371)		TTTCAGGTATCTGGAGCAACC	0.612													T	42138145	C	T	42138145	2	4	364	1	0	0	0	0	0	0	0	1	12079	903	32	2		2	PLA2G4B	15	42138145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4886	42138145	60393247	10914	34416											
SPTBN5	51332	broad.mit.edu	37	chr15	42151146	42151146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctccaggcgatggcggCgggtcccggcttgcctgaag	4	7	16	14	4	0	1	0	1	0	0	3	2	3	1	4	5	1	2	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42151146C>T	ENST00000320955.6	-	48	8248	c.8021G>A	c.(8020-8022)cGc>cAc	p.R2674H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2674					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCGATGGCGGCGGGTCCCGGC	0.706													T	42151146	C	T	42151146	3	4	364	1	0	0	0	0	1	0	0	0	15218	768	27	1	3087	1	SPTBN5	15	42151146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13001	42151146	60380246	10915	34417											
SPTBN5	51332	broad.mit.edu	37	chr15	42170634	42170634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgacacctccttgctgcGcagctgagcctggacactct	7	9	9	16	1	1	2	0	2	1	0	2	3	2	3	3	1	4	3	3	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42170634G>A	ENST00000320955.6	-	17	3603	c.3376C>T	c.(3376-3378)Cgc>Tgc	p.R1126C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1126					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCCTTGCTGCGCAGCTGAGCC	0.652													A	42170634	G	A	42170634	3	1	364	1	0	0	0	0	1	0	0	0	15218	1087	38	1	7856	1	SPTBN5	15	42170634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19488	42170634	60360758	10916	34418											
PLA2G4E	123745	broad.mit.edu	37	chr15	42300022	42300022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagcttcttctgagaggCggtgggcagccagaggctca	7	8	14	12	1	4	2	2	1	2	2	4	3	4	2	2	4	2	3	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42300022C>T	ENST00000399518.3	-	3	784	c.298G>A	c.(298-300)Gcc>Acc	p.A100T	CTD-2382E5.2_ENST00000552704.1_RNA|PLA2G4E_ENST00000413860.2_Missense_Mutation_p.A71T	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	82	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		TTCTGAGAGGCGGTGGGCAGC	0.502													T	42300022	C	T	42300022	3	4	364	1	0	0	0	0	1	0	0	0	12082	768	27	1	2380	1	PLA2G4E	15	42300022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129388	42300022	60231370	10917	34419											
PLA2G4D	283748	broad.mit.edu	37	chr15	42360978	42360978	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgcggtcctcagggcctGcaggatggcaccctggctgg	5	6	16	14	2	1	0	1	0	0	0	2	1	2	1	3	6	2	3	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42360978G>A	ENST00000290472.3	-	20	2486	c.2392C>T	c.(2392-2394)Cag>Tag	p.Q798*		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	798	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		CTCAGGGCCTGCAGGATGGCA	0.637													A	42360978	G	A	42360978	4	1	364	1	0	0	0	0	0	1	0	0	12081	1328	46	2	68	2	PLA2G4D	15	42360978	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60956	42360978	60170414	10918	34420											
PLA2G4D	283748	broad.mit.edu	37	chr15	42371773	42371773	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccagcactagcgcccacaGgtccacaaaggtcgtggggt	9	6	12	14	2	0	0	0	0	0	0	3	0	2	0	3	4	2	1	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42371773G>T	ENST00000290472.3	-	13	1373	c.1279C>A	c.(1279-1281)Ctg>Atg	p.L427M		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	427	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		AGCGCCCACAGGTCCACAAAG	0.697													T	42371773	G	T	42371773	3	4	364	1	0	0	0	0	1	0	0	0	12081	991	35	4	1209	4	PLA2G4D	15	42371773	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10795	42371773	60159619	10919	34421											
GANC	2595	broad.mit.edu	37	chr15	42630635	42630635	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatggagcaacttgaaaaTttctatcccaatgttactca	15	12	6	8	0	2	2	1	1	1	1	3	3	3	3	1	1	3	2	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42630635T>A	ENST00000318010.8	+	16	2030	c.1790T>A	c.(1789-1791)aTt>aAt	p.I597N		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	597					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		AACTTGAAAATTTCTATCCCA	0.423													A	42630635	T	A	42630635	3	1	364	1	0	0	0	0	1	0	0	0	6288	1493	52	5	1852	5	GANC	15	42630635	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	258862	42630635	59900757	10920	34422											
GANC	2595	broad.mit.edu	37	chr15	42638010	42638010	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagggtgtactgtaaagAtcccagtagccttggacact	12	9	12	8	0	0	1	0	0	0	1	1	3	1	3	2	3	2	3	2	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42638010A>C	ENST00000318010.8	+	20	2524	c.2284A>C	c.(2284-2286)Atc>Ctc	p.I762L		NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	762					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TACTGTAAAGATCCCAGTAGC	0.408													C	42638010	A	C	42638010	3	2	364	1	0	0	0	0	1	0	0	0	6288	333	12	5	2362	5	GANC	15	42638010	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7375	42638010	59893382	10921	34423											
GANC	2595	broad.mit.edu	37	chr15	42640395	42640395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaatcctcctatggactccGggttgctctaagcactaagg	9	11	10	11	1	1	1	0	1	1	0	4	2	4	2	3	3	2	3	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42640395G>A	ENST00000318010.8	+	21	2639	c.2399G>A	c.(2398-2400)cGg>cAg	p.R800Q	CAPN3_ENST00000356316.3_5'UTR|RP11-164J13.1_ENST00000495723.1_RNA	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	800					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		TATGGACTCCGGGTTGCTCTA	0.408													A	42640395	G	A	42640395	3	1	364	1	0	0	0	0	1	0	0	0	6288	1116	39	1	2481	1	GANC	15	42640395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2385	42640395	59890997	10922	34424											
CAPN3	825	broad.mit.edu	37	chr15	42652026	42652026	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaccgtcattagcgcatCtgtggctccaaggacagcgg	8	7	13	13	4	2	0	1	0	1	0	3	2	3	1	3	3	2	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42652026C>A	ENST00000397163.3	+	1	242	c.23C>A	c.(22-24)tCt>tAt	p.S8Y	CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Missense_Mutation_p.S8Y|CAPN3_ENST00000349748.3_Missense_Mutation_p.S8Y|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.S8Y	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	8					muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ATTAGCGCATCTGTGGCTCCA	0.552													A	42652026	C	A	42652026	3	1	364	1	0	0	0	0	1	0	0	0	2654	913	32	4	77	4	CAPN3	15	42652026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11631	42652026	59879366	10923	34425											
CAPN3	825	broad.mit.edu	37	chr15	42681142	42681142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaggctccatggttcctacGaagctctgaaaggtgggaac	11	9	12	9	1	1	1	0	1	1	0	3	3	3	2	2	4	3	3	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:42681142G>A	ENST00000397163.3	+	5	868	c.649G>A	c.(649-651)Gaa>Aaa	p.E217K	CAPN3_ENST00000356316.3_Missense_Mutation_p.E130K|CAPN3_ENST00000318023.7_Missense_Mutation_p.E217K|CAPN3_ENST00000349748.3_Missense_Mutation_p.E217K|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000357568.3_Missense_Mutation_p.E217K	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	217	Calpain catalytic.		E -> K (in LGMD2A).|Missing (in LGMD2A).		muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		TGGTTCCTACGAAGCTCTGAA	0.507													A	42681142	G	A	42681142	3	1	364	1	0	0	0	0	1	0	0	0	2654	1059	37	1	719	1	CAPN3	15	42681142	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29116	42681142	59850250	10924	34426											
CDAN1	146059	broad.mit.edu	37	chr15	43020212	43020212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaagccccacagcaatgTtctctgcactgctcagaacc	10	9	7	15	0	2	1	1	0	1	1	3	1	2	1	3	0	6	5	3	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43020212T>C	ENST00000356231.3	-	22	2911	c.2888A>G	c.(2887-2889)aAc>aGc	p.N963S		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	963						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CACAGCAATGTTCTCTGCACT	0.552													C	43020212	T	C	43020212	3	2	364	1	0	0	0	0	1	0	0	0	3084	1725	60	3	823	3	CDAN1	15	43020212	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	339070	43020212	59511180	10925	34427											
CDAN1	146059	broad.mit.edu	37	chr15	43021271	43021271	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgccacgaactctacGgtccggcgcaaggagggcgg	7	7	14	13	5	2	0	0	0	2	0	3	2	3	1	2	5	3	1	2	5	3	2	rs139104502	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43021271G>A	ENST00000356231.3	-	19	2618	c.2595C>T	c.(2593-2595)acC>acT	p.T865T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	865						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		CGAACTCTACGGTCCGGCGCA	0.562													A	43021271	G	A	43021271	2	1	364	1	0	0	0	0	0	0	0	1	3084	1103	39	1		1	CDAN1	15	43021271	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1059	43021271	59510121	10926	34428											
CDAN1	146059	broad.mit.edu	37	chr15	43023821	43023821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacacaggggagcctacctgCtggcactaaggatgaagtcc	11	6	13	11	0	0	1	0	1	0	0	1	4	1	3	3	4	3	2	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023821C>T	ENST00000356231.3	-	11	1759	c.1736G>A	c.(1735-1737)aGc>aAc	p.S579N		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	579						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		AGCCTACCTGCTGGCACTAAG	0.577													T	43023821	C	T	43023821	3	4	364	1	0	0	0	0	1	0	0	0	3084	797	28	2	2019	2	CDAN1	15	43023821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2550	43023821	59507571	10927	34429											
CDAN1	146059	broad.mit.edu	37	chr15	43023931	43023931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgttcctgtaggcgccaCaaccgccccagcttgtcagc	7	7	10	17	3	1	0	1	0	0	0	2	0	2	0	6	1	4	3	6	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43023931C>T	ENST00000356231.3	-	11	1649	c.1626G>A	c.(1624-1626)ttG>ttA	p.L542L		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	542						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		GTAGGCGCCACAACCGCCCCA	0.632													T	43023931	C	T	43023931	2	4	364	1	0	0	0	0	0	0	0	1	3084	477	17	2		2	CDAN1	15	43023931	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	43023931	59507461	10928	34430											
CDAN1	146059	broad.mit.edu	37	chr15	43026474	43026474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggcggccttgcagagctgGtgagaagcacagcagccgct	10	5	15	11	2	0	2	0	1	0	2	0	3	0	2	2	3	5	5	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43026474G>T	ENST00000356231.3	-	7	1230	c.1207C>A	c.(1207-1209)Cca>Aca	p.P403T		NM_138477.2	NP_612486.2	Q8IWY9	CDAN1_HUMAN	codanin 1	403						integral to membrane	protein binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	24		all_cancers(109;5.4e-16)|all_epithelial(112;2.97e-14)|Lung NSC(122;1.75e-08)|all_lung(180;5.99e-08)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;2.49e-07)		TGCAGAGCTGGTGAGAAGCAC	0.562													T	43026474	G	T	43026474	3	4	364	1	0	0	0	0	1	0	0	0	3084	1261	44	4	2564	4	CDAN1	15	43026474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2543	43026474	59504918	10929	34431											
TTBK2	146057	broad.mit.edu	37	chr15	43045409	43045409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagcttcctgaagttgActgtgtagatgccacagaag	12	10	12	7	0	0	5	0	3	0	2	1	5	1	5	2	0	2	3	2	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43045409A>G	ENST00000267890.6	-	14	2143	c.2035T>C	c.(2035-2037)Tca>Cca	p.S679P		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	679					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCTGAAGTTGACTGTGTAGAT	0.413													G	43045409	A	G	43045409	3	3	364	1	0	0	0	0	1	0	0	0	16779	275	10	3	1707	3	TTBK2	15	43045409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18935	43045409	59485983	10930	34432											
TTBK2	146057	broad.mit.edu	37	chr15	43067512	43067512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttccttctttaaatgatCattttctgcccaaggaccta	9	16	6	10	0	3	1	1	1	2	0	4	2	4	2	3	2	1	1	3	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067512C>T	ENST00000267890.6	-	13	1927	c.1819G>A	c.(1819-1821)Gat>Aat	p.D607N		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	607					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTAAATGATCATTTTCTGCC	0.463													T	43067512	C	T	43067512	3	4	364	1	0	0	0	0	1	0	0	0	16779	826	29	2	1927	2	TTBK2	15	43067512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22103	43067512	59463880	10931	34433											
TTBK2	146057	broad.mit.edu	37	chr15	43067672	43067672	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctccttgtccacaatCacccattctttggaatcaat	9	14	4	14	0	3	0	2	0	1	0	6	1	6	1	4	1	1	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43067672C>A	ENST00000267890.6	-	13	1767	c.1659G>T	c.(1657-1659)gtG>gtT	p.V553V		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	553					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TGTCCACAATCACCCATTCTT	0.468													A	43067672	C	A	43067672	2	1	364	1	0	0	0	0	0	0	0	1	16779	813	29	4		4	TTBK2	15	43067672	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	160	43067672	59463720	10932	34434											
TTBK2	146057	broad.mit.edu	37	chr15	43075630	43075630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcataccttacaaattccaAgctttatcttgtttttgttg	9	19	4	9	0	2	0	1	0	1	0	3	0	3	0	2	0	3	3	2	0	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43075630A>G	ENST00000267890.6	-	11	1292	c.1184T>C	c.(1183-1185)cTt>cCt	p.L395P	TTBK2_ENST00000567840.1_Missense_Mutation_p.L395P|TTBK2_ENST00000567274.1_Missense_Mutation_p.L360P	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	395					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		acaaattccAAGCTTTATCTT	0.438													G	43075630	A	G	43075630	3	3	364	1	0	0	0	0	1	0	0	0	16779	72	3	3	2570	3	TTBK2	15	43075630	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7958	43075630	59455762	10933	34435											
UBR1	197131	broad.mit.edu	37	chr15	43290423	43290423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagtctgtatccaccGtgccagggtcaaaagttgag	12	8	11	10	1	2	2	1	1	1	1	3	2	3	2	3	1	2	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43290423G>A	ENST00000290650.4	-	33	3778	c.3700C>T	c.(3700-3702)Cgg>Tgg	p.R1234W	UBR1_ENST00000382177.2_3'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1234					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TGTATCCACCGTGCCAGGGTC	0.348													A	43290423	G	A	43290423	3	1	364	1	0	0	0	0	1	0	0	0	17003	1144	40	1	1609	1	UBR1	15	43290423	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	214793	43290423	59240969	10934	34436											
UBR1	197131	broad.mit.edu	37	chr15	43307949	43307949	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtattgtcatacatgagtTtatgagtttcaatgaagttt	12	18	8	3	0	2	3	2	3	0	0	2	3	2	3	0	0	1	4	0	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43307949T>C	ENST00000290650.4	-	29	3224	c.3146A>G	c.(3145-3147)aAa>aGa	p.K1049R	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1049					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		ATACATGAGTTTATGAGTTTC	0.373													C	43307949	T	C	43307949	3	2	364	1	0	0	0	0	1	0	0	0	17003	1841	64	3	2179	3	UBR1	15	43307949	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17526	43307949	59223443	10935	34437											
UBR1	197131	broad.mit.edu	37	chr15	43308006	43308006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagccatgatcttctggCgatgtagcctagcagcttca	8	12	10	11	1	4	2	1	2	3	0	4	3	4	2	2	1	4	3	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43308006C>T	ENST00000290650.4	-	29	3167	c.3089G>A	c.(3088-3090)cGc>cAc	p.R1030H	UBR1_ENST00000382177.2_3'UTR|UBR1_ENST00000568782.1_5'UTR	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	1030					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		GATCTTCTGGCGATGTAGCCT	0.368													T	43308006	C	T	43308006	3	4	364	1	0	0	0	0	1	0	0	0	17003	768	27	1	2236	1	UBR1	15	43308006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57	43308006	59223386	10936	34438											
UBR1	197131	broad.mit.edu	37	chr15	43330062	43330062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaaggatattccactagtAcctctacttgaaagtcctcc	12	12	6	11	0	1	1	0	1	1	0	4	2	4	2	4	1	2	2	4	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43330062A>G	ENST00000290650.4	-	17	2009	c.1931T>C	c.(1930-1932)gTa>gCa	p.V644A	UBR1_ENST00000382177.2_Missense_Mutation_p.V644A	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	644					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		TTCCACTAGTACCTCTACTTG	0.418													G	43330062	A	G	43330062	3	3	364	1	0	0	0	0	1	0	0	0	17003	391	14	3	3442	3	UBR1	15	43330062	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22056	43330062	59201330	10937	34439											
UBR1	197131	broad.mit.edu	37	chr15	43339373	43339373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacatcacaagcacaccActcttggaacatgagtaaaa	17	8	5	11	0	2	1	1	1	1	0	2	2	2	2	1	1	3	2	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43339373A>G	ENST00000290650.4	-	14	1732	c.1654T>C	c.(1654-1656)Tgg>Cgg	p.W552R	UBR1_ENST00000382177.2_Missense_Mutation_p.W552R	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	552					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		CAAGCACACCACTCTTGGAAC	0.373													G	43339373	A	G	43339373	3	3	364	1	0	0	0	0	1	0	0	0	17003	159	6	3	3731	3	UBR1	15	43339373	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9311	43339373	59192019	10938	34440											
UBR1	197131	broad.mit.edu	37	chr15	43350539	43350539	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaatttataaataattacCttcacaaattccatagcaaa	18	14	1	8	0	2	0	1	0	1	0	3	0	3	0	2	0	2	1	2	0	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43350539C>A	ENST00000290650.4	-	10	1260	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	UBR1_ENST00000382177.2_Splice_Site_p.K394N	NM_174916.2	NP_777576.1	Q8IWV7	UBR1_HUMAN	ubiquitin protein ligase E3 component n-recognin 1	394					cellular response to leucine|negative regulation of TOR signaling cascade	cytosol	leucine binding|zinc ion binding			NS(2)|endometrium(2)|kidney(7)|large_intestine(12)|lung(25)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	58		all_cancers(109;4.32e-15)|all_epithelial(112;4.05e-13)|Lung NSC(122;1.75e-08)|all_lung(180;2e-07)|Melanoma(134;0.0179)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.08e-07)|COAD - Colon adenocarcinoma(120;0.185)|Colorectal(105;0.214)		AAATAATTACCTTCACAAATT	0.254													A	43350539	C	A	43350539	5	1	364	1	0	0	0	0	0	0	1	0	17003	695	24	4	4219	4	UBR1	15	43350539	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11166	43350539	59180853	10939	34441											
TMEM62	80021	broad.mit.edu	37	chr15	43444011	43444011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggatttttgcttttgatcAcgacctctttagctttgcag	6	17	8	10	2	2	1	1	1	1	0	2	3	2	2	2	1	3	3	2	1	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43444011A>G	ENST00000260403.2	+	8	1169	c.890A>G	c.(889-891)cAc>cGc	p.H297R		NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	297						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		GCTTTTGATCACGACCTCTTT	0.373													G	43444011	A	G	43444011	3	3	364	1	0	0	0	0	1	0	0	0	16289	159	6	3	920	3	TMEM62	15	43444011	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	93472	43444011	59087381	10940	34442											
CCNDBP1	23582	broad.mit.edu	37	chr15	43481449	43481449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatcaaggcatttattgCagtgtactatttgcttccaa	10	15	7	9	0	1	0	1	0	0	0	2	0	2	0	2	1	4	4	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43481449C>T	ENST00000300213.4	+	4	544	c.302C>T	c.(301-303)gCa>gTa	p.A101V	CCNDBP1_ENST00000356633.5_5'UTR|EPB42_ENST00000563128.1_Intron	NM_012142.4	NP_036274.3	O95273	CCDB1_HUMAN	cyclin D-type binding-protein 1	101	Interaction with RPLP0.|Interaction with TCF3.|Required for interaction with CCND1.				cell cycle	cytoplasm|nucleus	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)	13		all_cancers(109;3.31e-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;0.215)		GBM - Glioblastoma multiforme(94;8.42e-07)		GCATTTATTGCAGTGTACTAT	0.393													T	43481449	C	T	43481449	3	4	364	1	0	0	0	0	1	0	0	0	2949	710	25	2	316	2	CCNDBP1	15	43481449	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37438	43481449	59049943	10941	34443											
EPB42	2038	broad.mit.edu	37	chr15	43498536	43498536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atagagcattacccaggttgGcactgagcgtgaggtgcagc	10	8	14	9	1	0	3	0	2	0	1	0	3	0	3	1	3	5	4	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43498536G>A	ENST00000300215.3	-	10	2157	c.1700C>T	c.(1699-1701)gCc>gTc	p.A567V	EPB42_ENST00000540029.1_Missense_Mutation_p.A459V|EPB42_ENST00000563128.1_5'UTR|EPB42_ENST00000441366.2_Missense_Mutation_p.A537V			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	537					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ACCCAGGTTGGCACTGAGCGT	0.622													A	43498536	G	A	43498536	3	1	364	1	0	0	0	0	1	0	0	0	5199	1203	42	2	481	2	EPB42	15	43498536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17087	43498536	59032856	10942	34444											
EPB42	2038	broad.mit.edu	37	chr15	43500847	43500847	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcaccagattctgcctCtctggccttctccgttctga	4	15	6	16	1	5	2	1	1	5	1	8	2	5	2	4	1	1	1	4	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43500847C>A	ENST00000300215.3	-	7	1506	c.1049G>T	c.(1048-1050)aGa>aTa	p.R350I	EPB42_ENST00000540029.1_Missense_Mutation_p.R242I|EPB42_ENST00000441366.2_Missense_Mutation_p.R320I			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	320				H -> D (in Ref. 1; AAA74589/AAA52385 and 2; AAA35798).	erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		GATTCTGCCTCTCTGGCCTTC	0.577													A	43500847	C	A	43500847	3	1	364	1	0	0	0	0	1	0	0	0	5199	913	32	4	1144	4	EPB42	15	43500847	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2311	43500847	59030545	10943	34445											
EPB42	2038	broad.mit.edu	37	chr15	43503647	43503647	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggactctgcctggatgcaGtcagctgtacccaggtagat	9	9	12	11	0	2	1	1	0	1	1	2	3	2	3	2	3	4	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43503647G>A	ENST00000300215.3	-	4	1063	c.606C>T	c.(604-606)gaC>gaT	p.D202D	EPB42_ENST00000540029.1_Silent_p.D94D|EPB42_ENST00000441366.2_Silent_p.D172D			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	172					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		CCTGGATGCAGTCAGCTGTAC	0.547													A	43503647	G	A	43503647	2	1	364	1	0	0	0	0	0	0	0	1	5199	1020	36	2		2	EPB42	15	43503647	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2800	43503647	59027745	10944	34446											
EPB42	2038	broad.mit.edu	37	chr15	43512939	43512939	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccatccatcccacttcCtttaatgaaaacaggtgatg	12	11	5	13	0	0	2	0	2	0	0	3	2	3	2	5	1	2	0	5	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43512939C>A	ENST00000300215.3	-	1	542	c.85G>T	c.(85-87)Gga>Tga	p.G29*	EPB42_ENST00000540029.1_Intron|EPB42_ENST00000441366.2_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton	p.G29R(1)		endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		ATCCCACTTCCTTTAATGAAA	0.602													A	43512939	C	A	43512939	4	1	364	1	0	0	0	0	0	1	0	0	5199	690	24	4	2132	4	EPB42	15	43512939	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9292	43512939	59018453	10945	34447											
LCMT2	9836	broad.mit.edu	37	chr15	43621357	43621357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaagctggagaacccccAaggctggacttactggggac	12	6	13	10	0	0	2	0	1	0	1	0	5	0	4	2	5	3	2	2	5	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43621357A>G	ENST00000305641.5	-	1	1446	c.1331T>C	c.(1330-1332)tTg>tCg	p.L444S	LCMT2_ENST00000544735.1_Missense_Mutation_p.L23S|LCMT2_ENST00000567039.1_3'UTR	NM_014793.4	NP_055608.2	O60294	LCMT2_HUMAN	leucine carboxyl methyltransferase 2	444					tRNA processing		methyltransferase activity|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(1)|urinary_tract(1)	20		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.1e-07)	L-Leucine(DB00149)	GAGAACCCCCAAGGCTGGACT	0.488													G	43621357	A	G	43621357	3	3	364	1	0	0	0	0	1	0	0	0	8738	131	5	3	733	3	LCMT2	15	43621357	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	108418	43621357	58910035	10946	34448											
ZSCAN29	146050	broad.mit.edu	37	chr15	43658362	43658362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttggggtcctggggggtcgCctctagatccatgtcatcac	5	11	14	11	1	3	1	2	0	1	1	6	1	5	1	3	5	0	1	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43658362C>T	ENST00000396976.2	-	3	1302	c.1168G>A	c.(1168-1170)Gcg>Acg	p.A390T	ZSCAN29_ENST00000568898.1_Intron|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.A389T|ZSCAN29_ENST00000396972.1_Intron	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	390					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		TGGGGGGTCGCCTCTAGATCC	0.552													T	43658362	C	T	43658362	3	4	364	1	0	0	0	0	1	0	0	0	18333	739	26	2	1402	2	ZSCAN29	15	43658362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37005	43658362	58873030	10947	34449											
ZSCAN29	146050	broad.mit.edu	37	chr15	43661813	43661813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaagatctaggtcttccaGgctctctttctaaatcttcc	8	14	6	13	1	5	1	0	0	5	1	8	2	7	1	3	2	0	1	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43661813G>T	ENST00000396976.2	-	1	433	c.299C>A	c.(298-300)cCt>cAt	p.P100H	ZSCAN29_ENST00000568898.1_Missense_Mutation_p.P99H|ZSCAN29_ENST00000562072.1_Missense_Mutation_p.P99H|TUBGCP4_ENST00000570081.1_3'UTR|ZSCAN29_ENST00000396972.1_Missense_Mutation_p.P100H	NM_152455.3	NP_689668.3	Q8IWY8	ZSC29_HUMAN	zinc finger and SCAN domain containing 29	100	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(7)|skin(2)	24		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;8.97e-07)		AGGTCTTCCAGGCTCTCTTTC	0.463													T	43661813	G	T	43661813	3	4	364	1	0	0	0	0	1	0	0	0	18333	1000	35	4	2279	4	ZSCAN29	15	43661813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3451	43661813	58869579	10948	34450											
TP53BP1	7158	broad.mit.edu	37	chr15	43707815	43707815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttttactgtggcagacttgCgacctcgcttggcaggggac	6	11	14	10	2	0	1	0	0	0	1	1	3	0	2	1	4	2	4	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43707815C>T	ENST00000263801.3	-	23	5303	c.5051G>A	c.(5050-5052)cGc>cAc	p.R1684H	TP53BP1_ENST00000382044.4_Missense_Mutation_p.R1689H|TP53BP1_ENST00000382039.3_Missense_Mutation_p.R1639H|TP53BP1_ENST00000450115.2_Missense_Mutation_p.R1689H	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1684					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GGCAGACTTGCGACCTCGCTT	0.498								Other conserved DNA damage response genes					T	43707815	C	T	43707815	3	4	364	1	0	0	0	0	1	0	0	0	16484	768	27	1	891	1	TP53BP1	15	43707815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46002	43707815	58823577	10949	34451											
MAP1A	4130	broad.mit.edu	37	chr15	43818558	43818558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagagagcctagtgcaGgagggcagggccagagagca	12	3	18	8	0	0	2	0	0	0	2	0	6	0	4	2	4	3	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43818558G>T	ENST00000382031.1	+	5	5632	c.5601G>T	c.(5599-5601)caG>caT	p.Q1867H	MAP1A_ENST00000300231.5_Missense_Mutation_p.Q1629H|MAP1A_ENST00000399453.1_Missense_Mutation_p.Q1629H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1629						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCCTAGTGCAGGAGGGCAGGG	0.547													T	43818558	G	T	43818558	3	4	364	1	0	0	0	0	1	0	0	0	9302	991	35	4	4889	4	MAP1A	15	43818558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110743	43818558	58712834	10950	34452											
MAP1A	4130	broad.mit.edu	37	chr15	43819268	43819268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctggtccccccacacCtgccccggaatcccatactc	7	7	6	21	1	0	0	0	0	0	0	4	1	3	1	8	2	3	1	8	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43819268C>A	ENST00000382031.1	+	5	6342	c.6311C>A	c.(6310-6312)cCt>cAt	p.P2104H	MAP1A_ENST00000300231.5_Missense_Mutation_p.P1866H|MAP1A_ENST00000399453.1_Missense_Mutation_p.P1866H			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1866						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCCCCACACCTGCCCCGGAA	0.652													A	43819268	C	A	43819268	3	1	364	1	0	0	0	0	1	0	0	0	9302	681	24	4	5599	4	MAP1A	15	43819268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	710	43819268	58712124	10951	34453											
MAP1A	4130	broad.mit.edu	37	chr15	43820241	43820241	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaaccccgctcggcaccCtgtggctcccttgccttctc	3	10	9	19	2	1	1	0	1	1	0	4	1	2	1	5	2	2	4	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43820241C>A	ENST00000382031.1	+	5	7315	c.7284C>A	c.(7282-7284)ccC>ccA	p.P2428P	MAP1A_ENST00000300231.5_Silent_p.P2190P|MAP1A_ENST00000399453.1_Silent_p.P2190P			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2190						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	GCTCGGCACCCTGTGGCTCCC	0.637													A	43820241	C	A	43820241	2	1	364	1	0	0	0	0	0	0	0	1	9302	668	24	4		4	MAP1A	15	43820241	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	973	43820241	58711151	10952	34454											
MAP1A	4130	broad.mit.edu	37	chr15	43821341	43821341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactcaccaccccaggcctgGccatgacccacctcctctcc	7	7	5	22	0	2	1	1	1	1	0	4	1	3	1	9	2	1	0	9	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43821341G>A	ENST00000382031.1	+	5	8415	c.8384G>A	c.(8383-8385)gGc>gAc	p.G2795D	MAP1A_ENST00000300231.5_Missense_Mutation_p.G2557D|MAP1A_ENST00000399453.1_Missense_Mutation_p.G2557D			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2557						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCCAGGCCTGGCCATGACCCA	0.637													A	43821341	G	A	43821341	3	1	364	1	0	0	0	0	1	0	0	0	9302	1203	42	2	7672	2	MAP1A	15	43821341	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1100	43821341	58710051	10953	34455											
PPIP5K1	9677	broad.mit.edu	37	chr15	43851062	43851062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaattcactcacttgacGtagggaaagggcattatgca	14	9	10	8	1	2	2	2	1	0	1	2	3	2	3	0	2	1	3	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:43851062G>A	ENST00000420765.1	-	29	3498	c.3316C>T	c.(3316-3318)Cgt>Tgt	p.R1106C	PPIP5K1_ENST00000381885.1_Missense_Mutation_p.R1102C|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.R1106C|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.R1081C|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.R1082C|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.R1039C|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.R1039C	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1106					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						CTCACTTGACGTAGGGAAAGG	0.473													A	43851062	G	A	43851062	3	1	364	1	0	0	0	0	1	0	0	0	12414	1145	40	1	1121	1	PPIP5K1	15	43851062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29721	43851062	58680330	10954	34456											
MFAP1	4236	broad.mit.edu	37	chr15	44105185	44105185	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctcatctttttactcacGcttctcgatcttctctgtcc	5	17	5	14	2	6	0	2	0	4	0	9	1	7	0	1	1	1	2	1	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105185G>A	ENST00000267812.3	-	6	1119	c.887C>T	c.(886-888)gCg>gTg	p.A296V		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	296						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		TTTTACTCACGCTTCTCGATC	0.423													A	44105185	G	A	44105185	5	1	364	1	0	0	0	0	0	0	1	0	9588	1101	38	1	448	1	MFAP1	15	44105185	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	254123	44105185	58426207	10955	34457											
MFAP1	4236	broad.mit.edu	37	chr15	44105297	44105297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcatccaatgcagccaGggatcgcttgttctcttcca	8	11	10	12	1	1	0	0	0	1	0	5	2	3	1	3	1	3	4	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44105297G>T	ENST00000267812.3	-	6	1007	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	259						microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		AATGCAGCCAGGGATCGCTTG	0.438													T	44105297	G	T	44105297	3	4	364	1	0	0	0	0	1	0	0	0	9588	991	35	4	560	4	MFAP1	15	44105297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112	44105297	58426095	10956	34458											
MFAP1	4236	broad.mit.edu	37	chr15	44107158	44107158	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catacctcatcatcaatttcCtcctcctcttcttcactgct	7	16	1	17	0	6	0	4	0	2	0	9	0	9	0	4	0	2	1	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44107158C>A	ENST00000267812.3	-	3	646	c.414G>T	c.(412-414)gaG>gaT	p.E138D		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	138	Poly-Glu.					microfibril				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		CATCAATTTCCTCCTCCTCTT	0.408													A	44107158	C	A	44107158	3	1	364	1	0	0	0	0	1	0	0	0	9588	680	24	4	933	4	MFAP1	15	44107158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1861	44107158	58424234	10957	34459											
SPG11	80208	broad.mit.edu	37	chr15	44920947	44920947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatattcatctatagcatCtgttagcttccaaggaaact	13	14	5	9	0	4	0	2	0	2	0	5	1	5	1	1	1	3	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:44920947C>A	ENST00000261866.7	-	10	2003	c.1987G>T	c.(1987-1989)Gat>Tat	p.D663Y	SPG11_ENST00000559193.1_Missense_Mutation_p.D663Y|SPG11_ENST00000535302.2_Missense_Mutation_p.D663Y|SPG11_ENST00000558319.1_Missense_Mutation_p.D663Y|SPG11_ENST00000427534.2_Missense_Mutation_p.D663Y	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	663					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		TCTATAGCATCTGTTAGCTTC	0.348													A	44920947	C	A	44920947	3	1	364	1	0	0	0	0	1	0	0	0	15137	913	32	4	5468	4	SPG11	15	44920947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	813789	44920947	57610445	10958	34460											
TRIM69	140691	broad.mit.edu	37	chr15	45059499	45059499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctccaaaagccaaaccagCgtctggcatggtgacattaa	13	8	8	12	1	2	1	0	1	2	0	3	1	2	1	3	2	3	1	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45059499C>T	ENST00000558173.1	+	5	5165	c.420C>T	c.(418-420)agC>agT	p.S140S	TRIM69_ENST00000338264.4_Silent_p.S185S|TRIM69_ENST00000560442.1_Silent_p.S140S|TRIM69_ENST00000558329.1_Silent_p.S123S|TRIM69_ENST00000329464.4_Silent_p.S344S|TRIM69_ENST00000561043.1_Silent_p.S107S|TRIM69_ENST00000559390.1_Silent_p.S344S			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	344	Necessary for nuclear localization (By similarity).				apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		GCCAAACCAGCGTCTGGCATG	0.468													T	45059499	C	T	45059499	2	4	364	1	0	0	0	0	0	0	0	1	16643	767	27	1		1	TRIM69	15	45059499	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138552	45059499	57471893	10959	34461											
SORD	6652	broad.mit.edu	37	chr15	45361176	45361176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatcgccaggaaagtagaaGgtcagctggggtgcaagccg	13	5	15	8	2	1	1	1	0	0	1	2	2	1	2	2	4	3	3	2	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45361176G>T	ENST00000267814.9	+	7	892	c.712G>T	c.(712-714)Ggt>Tgt	p.G238C	SORD_ENST00000558580.1_Missense_Mutation_p.G217C	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	238					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	GAAAGTAGAAGGTCAGCTGGG	0.587													T	45361176	G	T	45361176	3	4	364	1	0	0	0	0	1	0	0	0	15027	1000	35	4	738	4	SORD	15	45361176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	301677	45361176	57170216	10960	34462											
DUOX2	50506	broad.mit.edu	37	chr15	45386444	45386444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggtcattcctggagggccGcagctgaacaccccgatctt	7	10	11	13	2	2	1	1	1	1	0	3	3	3	2	4	3	2	2	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45386444G>A	ENST00000389039.6	-	34	4936	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	DUOX2_ENST00000603300.1_Silent_p.C1517C			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1517					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTGGAGGGCCGCAGCTGAACA	0.562													A	45386444	G	A	45386444	2	1	364	1	0	0	0	0	0	0	0	1	4840	1079	38	1		1	DUOX2	15	45386444	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25268	45386444	57144948	10961	34463											
DUOX2	50506	broad.mit.edu	37	chr15	45392018	45392018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggagacgctggccgccGtgcctcgtgacaggatgatg	8	7	16	10	4	0	4	0	3	0	1	1	6	0	5	3	3	1	1	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45392018G>A	ENST00000389039.6	-	25	3642	c.3257C>T	c.(3256-3258)aCg>aTg	p.T1086M	DUOX2_ENST00000603300.1_Missense_Mutation_p.T1086M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1086	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GCTGGCCGCCGTGCCTCGTGA	0.567													A	45392018	G	A	45392018	3	1	364	1	0	0	0	0	1	0	0	0	4840	1145	40	1	1429	1	DUOX2	15	45392018	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5574	45392018	57139374	10962	34464											
DUOX2	50506	broad.mit.edu	37	chr15	45397995	45397995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagctgctgcacaaaggcgCcccgttcctcttcagaacta	10	9	8	14	2	2	1	1	0	1	1	3	1	3	1	3	1	4	4	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45397995C>T	ENST00000389039.6	-	18	2565	c.2180G>A	c.(2179-2181)gGc>gAc	p.G727D	DUOX2_ENST00000603300.1_Missense_Mutation_p.G727D			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	727					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CACAAAGGCGCCCCGTTCCTC	0.597													T	45397995	C	T	45397995	3	4	364	1	0	0	0	0	1	0	0	0	4840	739	26	2	2534	2	DUOX2	15	45397995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5977	45397995	57133397	10963	34465											
DUOX2	50506	broad.mit.edu	37	chr15	45399573	45399573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagacattgggctgcaGggcactggggtcaatgttga	11	8	15	7	0	1	2	1	1	0	1	1	3	1	2	0	4	1	4	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45399573G>T	ENST00000389039.6	-	14	2048	c.1663C>A	c.(1663-1665)Ctg>Atg	p.L555M	DUOX2_ENST00000603300.1_Missense_Mutation_p.L555M			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	555	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		TTGGGCTGCAGGGCACTGGGG	0.537													T	45399573	G	T	45399573	3	4	364	1	0	0	0	0	1	0	0	0	4840	991	35	4	3067	4	DUOX2	15	45399573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1578	45399573	57131819	10964	34466											
DUOXA2	405753	broad.mit.edu	37	chr15	45406895	45406895	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcatcgttattctagtgtTtttggctctagcagcaagct	7	16	9	9	1	3	0	1	0	2	0	4	0	3	0	0	1	3	7	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45406895T>G	ENST00000323030.5	+	1	377	c.92T>G	c.(91-93)tTt>tGt	p.F31C		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	31					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		ATTCTAGTGTTTTTGGCTCTA	0.582													G	45406895	T	G	45406895	3	3	364	1	0	0	0	0	1	0	0	0	4842	1841	64	5	94	5	DUOXA2	15	45406895	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7322	45406895	57124497	10965	34467											
DUOXA2	405753	broad.mit.edu	37	chr15	45408871	45408871	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttcacaccgagtagcccTtgcggcctgtaccaccagta	10	8	9	14	2	1	0	1	0	0	0	1	1	1	0	5	1	3	4	5	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45408871T>C	ENST00000323030.5	+	4	783	c.498T>C	c.(496-498)ccT>ccC	p.P166P		NM_207581.3	NP_997464.2	Q1HG44	DOXA2_HUMAN	dual oxidase maturation factor 2	166					protein transport	endoplasmic reticulum membrane|integral to membrane							all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;2.88e-18)|GBM - Glioblastoma multiforme(94;3.95e-07)|COAD - Colon adenocarcinoma(120;0.0652)|Colorectal(133;0.0659)		CGAGTAGCCCTTGCGGCCTGT	0.617													C	45408871	T	C	45408871	2	2	364	1	0	0	0	0	0	0	0	1	4842	1596	56	3		3	DUOXA2	15	45408871	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1976	45408871	57122521	10966	34468											
DUOX1	53905	broad.mit.edu	37	chr15	45426379	45426379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtcccagccagctatgCagatggcgtgtaccagccct	7	8	11	15	1	0	1	0	0	0	1	1	1	1	1	5	2	5	3	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45426379C>T	ENST00000321429.4	+	5	586	c.179C>T	c.(178-180)gCa>gTa	p.A60V	DUOX1_ENST00000389037.3_Missense_Mutation_p.A60V	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	60	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GCCAGCTATGCAGATGGCGTG	0.632													T	45426379	C	T	45426379	3	4	364	1	0	0	0	0	1	0	0	0	4839	710	25	2	189	2	DUOX1	15	45426379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17508	45426379	57105013	10967	34469											
DUOX1	53905	broad.mit.edu	37	chr15	45427309	45427309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactgcccgcaggctatcaCgtgctttcagacctggtgag	7	9	12	13	2	2	2	2	1	0	1	2	2	2	2	2	2	2	4	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45427309C>T	ENST00000321429.4	+	6	722	c.315C>T	c.(313-315)caC>caT	p.H105H	DUOX1_ENST00000389037.3_Silent_p.H105H	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	105	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CAGGCTATCACGTGCTTTCAG	0.617													T	45427309	C	T	45427309	2	4	364	1	0	0	0	0	0	0	0	1	4839	535	19	1		1	DUOX1	15	45427309	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	930	45427309	57104083	10968	34470											
DUOX1	53905	broad.mit.edu	37	chr15	45434273	45434273	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggcagtggatttggcttCggggtcaccatcgggaccct	6	9	16	10	2	1	0	1	0	0	0	3	3	1	2	2	6	0	2	2	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45434273C>T	ENST00000321429.4	+	16	2192	c.1785C>T	c.(1783-1785)ttC>ttT	p.F595F	DUOX1_ENST00000389037.3_Silent_p.F595F|DUOX1_ENST00000561166.1_Silent_p.F241F	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	595					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		GATTTGGCTTCGGGGTCACCA	0.577													T	45434273	C	T	45434273	2	4	364	1	0	0	0	0	0	0	0	1	4839	883	31	1		1	DUOX1	15	45434273	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6964	45434273	57097119	10969	34471											
DUOX1	53905	broad.mit.edu	37	chr15	45440173	45440173	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaatggcctcatttccaagGatgagttcatcaggatgctg	10	11	12	8	0	3	1	3	1	0	0	4	4	4	4	2	4	1	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45440173G>T	ENST00000321429.4	+	21	3027	c.2620G>T	c.(2620-2622)Gat>Tat	p.D874Y	DUOX1_ENST00000389037.3_Missense_Mutation_p.D874Y|DUOX1_ENST00000561166.1_Missense_Mutation_p.D520Y	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	874	EF-hand 2.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CATTTCCAAGGATGAGTTCAT	0.537													T	45440173	G	T	45440173	3	4	364	1	0	0	0	0	1	0	0	0	4839	1174	41	4	2694	4	DUOX1	15	45440173	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5900	45440173	57091219	10970	34472											
DUOX1	53905	broad.mit.edu	37	chr15	45454097	45454097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcacatccgggcagcaGggccctggaccactcgcctc	6	5	12	18	2	0	0	0	0	0	0	3	1	1	1	5	3	2	3	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45454097G>T	ENST00000321429.4	+	31	4425	c.4018G>T	c.(4018-4020)Ggg>Tgg	p.G1340W	DUOX1_ENST00000389037.3_Missense_Mutation_p.G1340W|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_Missense_Mutation_p.G986W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1340	FAD-binding FR-type.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		CCGGGCAGCAGGGCCCTGGAC	0.632													T	45454097	G	T	45454097	3	4	364	1	0	0	0	0	1	0	0	0	4839	1000	35	4	4132	4	DUOX1	15	45454097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13924	45454097	57077295	10971	34473											
SQRDL	58472	broad.mit.edu	37	chr15	45981348	45981348	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctttgatcaaagcaaaGagcgcctttccatgtatctc	10	12	6	13	1	2	2	1	1	1	1	5	2	4	2	4	0	2	2	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:45981348G>T	ENST00000260324.7	+	9	1614	c.1228G>T	c.(1228-1230)Gag>Tag	p.E410*	SQRDL_ENST00000568606.1_Nonsense_Mutation_p.E410*	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	410							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		TCAAAGCAAAGAGCGCCTTTC	0.473													T	45981348	G	T	45981348	4	4	364	1	0	0	0	0	0	1	0	0	15225	943	33	4	1258	4	SQRDL	15	45981348	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	527251	45981348	56550044	10972	34474											
SEMA6D	80031	broad.mit.edu	37	chr15	48063276	48063276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctacccatgactacaacaCgtctttctcaaactccaatg	12	11	4	14	1	2	1	1	1	2	0	4	1	3	1	2	0	5	1	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48063276C>T	ENST00000316364.5	+	19	2955	c.2516C>T	c.(2515-2517)aCg>aTg	p.T839M	SEMA6D_ENST00000358066.4_Missense_Mutation_p.T777M|SEMA6D_ENST00000389433.2_Missense_Mutation_p.T820M|SEMA6D_ENST00000537942.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000389428.3_Missense_Mutation_p.T764M|SEMA6D_ENST00000558014.1_Missense_Mutation_p.T777M|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000389432.2_Missense_Mutation_p.T796M|SEMA6D_ENST00000536845.2_Missense_Mutation_p.T839M|SEMA6D_ENST00000354744.4_Missense_Mutation_p.T783M	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	839					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		GACTACAACACGTCTTTCTCA	0.458													T	48063276	C	T	48063276	3	4	364	1	0	0	0	0	1	0	0	0	14135	536	19	1	2629	1	SEMA6D	15	48063276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2081928	48063276	54468116	10973	34475											
MYEF2	50804	broad.mit.edu	37	chr15	48435115	48435115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgaaattatgcattaCgatccaagcgaacatcaatt	14	12	7	8	2	1	1	1	1	0	0	2	3	2	1	1	1	4	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48435115C>T	ENST00000324324.7	-	17	2072	c.1793G>A	c.(1792-1794)cGt>cAt	p.R598H	MYEF2_ENST00000267836.6_Missense_Mutation_p.R574H	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	598	RRM 3.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		TTATGCATTACGATCCAAGCG	0.363													T	48435115	C	T	48435115	3	4	364	1	0	0	0	0	1	0	0	0	10100	536	19	1	13	1	MYEF2	15	48435115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	371839	48435115	54096277	10974	34476											
MYEF2	50804	broad.mit.edu	37	chr15	48443753	48443753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccatgctactagtcatcGcaccacggtacagctctgaa	10	9	8	14	2	2	1	1	1	1	0	4	1	3	1	2	1	4	5	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48443753G>A	ENST00000324324.7	-	13	1502	c.1223C>T	c.(1222-1224)gCg>gTg	p.A408V	MYEF2_ENST00000267836.6_Missense_Mutation_p.A408V	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	408	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		ACTAGTCATCGCACCACGGTA	0.373													A	48443753	G	A	48443753	3	1	364	1	0	0	0	0	1	0	0	0	10100	1087	38	1	599	1	MYEF2	15	48443753	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8638	48443753	54087639	10975	34477											
FBN1	2200	broad.mit.edu	37	chr15	48707780	48707780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccacacaggtaaccGccctcggtattggaacagcc	11	5	11	14	2	0	0	0	0	0	0	1	2	0	2	4	4	4	2	4	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48707780G>A	ENST00000316623.5	-	64	8459	c.8004C>T	c.(8002-8004)ggC>ggT	p.G2668G	FBN1_ENST00000561429.1_5'UTR	NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2668	EGF-like 47; calcium-binding.		G -> C (in MFS).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.G2668G(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGGTAACCGCCCTCGGTAT	0.522													A	48707780	G	A	48707780	2	1	364	1	0	0	0	0	0	0	0	1	5751	1074	38	1		1	FBN1	15	48707780	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	264027	48707780	53823612	10976	34478											
FBN1	2200	broad.mit.edu	37	chr15	48714159	48714159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctactcaccaatgcaggaCgtatggtgttgggtaaatcc	10	11	10	10	1	1	0	1	0	0	0	3	1	3	1	3	3	2	4	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48714159C>T	ENST00000316623.5	-	61	8015	c.7560G>A	c.(7558-7560)acG>acA	p.T2520T		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	2520	EGF-like 43; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAATGCAGGACGTATGGTGTT	0.428													T	48714159	C	T	48714159	2	4	364	1	0	0	0	0	0	0	0	1	5751	523	19	1		1	FBN1	15	48714159	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6379	48714159	53817233	10977	34479											
FBN1	2200	broad.mit.edu	37	chr15	48802279	48802279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtgtaacatgaaagcccGcattacacacgcaatgaaaa	16	7	7	11	3	0	2	0	2	0	0	1	2	0	2	1	0	3	3	1	0	6	2	rs141551765	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48802279G>A	ENST00000316623.5	-	14	2131	c.1676C>T	c.(1675-1677)gCg>gTg	p.A559V		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	559	EGF-like 8; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ATGAAAGCCCGCATTACACAC	0.408													A	48802279	G	A	48802279	3	1	364	1	0	0	0	0	1	0	0	0	5751	1087	38	1	7151	1	FBN1	15	48802279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88120	48802279	53729113	10978	34480											
FBN1	2200	broad.mit.edu	37	chr15	48829911	48829911	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggctcggccgactgtGgcacagcagagcgtttttgt	6	9	13	13	3	0	1	0	0	0	1	1	2	0	1	3	3	2	4	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48829911G>T	ENST00000316623.5	-	7	1088	c.633C>A	c.(631-633)gcC>gcA	p.A211A		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	211	TB 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCCGACTGTGGCACAGCAGA	0.577													T	48829911	G	T	48829911	2	4	364	1	0	0	0	0	0	0	0	1	5751	1335	47	4		4	FBN1	15	48829911	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27632	48829911	53701481	10979	34481											
FBN1	2200	broad.mit.edu	37	chr15	48905269	48905269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaacagtaagcattataaCgtgatccacagacattgggt	14	9	10	8	1	0	2	0	1	0	1	1	2	1	2	1	2	3	3	1	2	4	4	rs145942328		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:48905269C>T	ENST00000316623.5	-	3	640	c.185G>A	c.(184-186)cGt>cAt	p.R62H		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	62			R -> C (in MFS; also in a patient with ectopia lentis and retinal detachment; dbSNP:rs25403).		heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding	p.R62H(1)		NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCATTATAACGTGATCCACA	0.358													T	48905269	C	T	48905269	3	4	364	1	0	0	0	0	1	0	0	0	5751	536	19	1	8686	1	FBN1	15	48905269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75358	48905269	53626123	10980	34482											
CEP152	22995	broad.mit.edu	37	chr15	49048132	49048132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtcagcgttttctacaaGcagaggaagtgtatcttgaa	11	12	12	6	1	3	2	1	1	2	1	3	3	3	3	0	2	3	3	0	2	5	5	rs74553953		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49048132G>T	ENST00000380950.2	-	20	3500	c.3313C>A	c.(3313-3315)Ctt>Att	p.L1105I	CEP152_ENST00000399334.3_Missense_Mutation_p.L1105I|CEP152_ENST00000325747.5_Missense_Mutation_p.L1012I	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1105					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TTTTCTACAAGCAGAGGAAGT	0.368													T	49048132	G	T	49048132	3	4	364	1	0	0	0	0	1	0	0	0	3278	971	34	4	1679	4	CEP152	15	49048132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142863	49048132	53483260	10981	34483											
SECISBP2L	9728	broad.mit.edu	37	chr15	49309099	49309099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactcttgagctgtggcaagGgctgctgctaaagctttctt	7	14	11	9	0	2	1	0	1	2	0	2	1	2	1	0	2	5	6	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49309099G>A	ENST00000559471.1	-	10	1628	c.1365C>T	c.(1363-1365)gcC>gcT	p.A455A	SECISBP2L_ENST00000261847.3_Silent_p.A410A	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	455										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						CTGTGGCAAGGGCTGCTGCTA	0.368													A	49309099	G	A	49309099	2	1	364	1	0	0	0	0	0	0	0	1	14100	1219	43	2		2	SECISBP2L	15	49309099	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	260967	49309099	53222293	10982	34484											
SECISBP2L	9728	broad.mit.edu	37	chr15	49327791	49327791	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataatgggataggcaaagtAtggtccagtagggtttggat	12	12	14	3	0	0	0	0	0	0	0	1	2	1	2	1	5	0	4	1	5	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49327791A>G	ENST00000559471.1	-	3	531	c.268T>C	c.(268-270)Tac>Cac	p.Y90H	SECISBP2L_ENST00000261847.3_Missense_Mutation_p.Y90H	NM_001193489.1	NP_001180418.1	Q93073	SBP2L_HUMAN	SECIS binding protein 2-like	90										breast(1)|endometrium(5)|kidney(8)|large_intestine(12)|lung(11)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	46						TAGGCAAAGTATGGTCCAGTA	0.403													G	49327791	A	G	49327791	3	3	364	1	0	0	0	0	1	0	0	0	14100	449	16	3	2962	3	SECISBP2L	15	49327791	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18692	49327791	53203601	10983	34485											
COPS2	9318	broad.mit.edu	37	chr15	49426260	49426260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaaaaaatcagtgtgtGccttttcaaattcaccttcc	12	14	4	11	0	4	0	4	0	0	0	5	0	5	0	3	0	1	0	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:49426260G>A	ENST00000388901.5	-	8	834	c.761C>T	c.(760-762)gCa>gTa	p.A254V	COPS2_ENST00000299259.6_Missense_Mutation_p.A261V|COPS2_ENST00000542928.1_Missense_Mutation_p.A190V	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	254	PCI.				cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		ATCAGTGTGTGCCTTTTCAAA	0.343													A	49426260	G	A	49426260	3	1	364	1	0	0	0	0	1	0	0	0	3764	1319	46	2	594	2	COPS2	15	49426260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98469	49426260	53105132	10984	34486											
ATP8B4	79895	broad.mit.edu	37	chr15	50215583	50215583	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcacttacactgaggTggtctgacgtcaaagacaaa	13	7	12	9	2	2	3	1	2	1	1	2	4	2	4	0	4	1	1	0	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50215583T>G	ENST00000284509.6	-	17	1892	c.1751A>C	c.(1750-1752)cAc>cCc	p.H584P	ATP8B4_ENST00000559829.1_Missense_Mutation_p.H584P	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	584					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TACACTGAGGTGGTCTGACGT	0.403													G	50215583	T	G	50215583	3	3	364	1	0	0	0	0	1	0	0	0	1202	1696	59	5	1875	5	ATP8B4	15	50215583	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	789323	50215583	52315809	10985	34487											
ATP8B4	79895	broad.mit.edu	37	chr15	50279715	50279715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccatgaatttatctaaCttgttgttaggcacctcaca	11	15	5	10	0	2	1	1	1	1	0	3	1	3	1	2	1	1	3	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50279715C>A	ENST00000284509.6	-	10	762	c.621G>T	c.(619-621)aaG>aaT	p.K207N	ATP8B4_ENST00000559829.1_Missense_Mutation_p.K207N|ATP8B4_ENST00000558959.1_5'UTR	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	207					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTTATCTAACTTGTTGTTAG	0.403													A	50279715	C	A	50279715	3	1	364	1	0	0	0	0	1	0	0	0	1202	564	20	4	3033	4	ATP8B4	15	50279715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64132	50279715	52251677	10986	34488											
HDC	3067	broad.mit.edu	37	chr15	50555543	50555543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaggctgcacgtctggCgtcacacgtctctcccgcac	6	8	10	17	4	3	0	1	0	2	0	5	0	4	0	2	2	2	3	2	2	1	1	rs139287451	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50555543C>T	ENST00000267845.3	-	2	495	c.93G>A	c.(91-93)acG>acA	p.T31T	HDC_ENST00000543581.1_Silent_p.T31T	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	31			T -> M (in dbSNP:rs17740607).		catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	GCACGTCTGGCGTCACACGTC	0.562													T	50555543	C	T	50555543	2	4	364	1	0	0	0	0	0	0	0	1	7070	755	27	1		1	HDC	15	50555543	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	275828	50555543	51975849	10987	34489											
GABPB1	2553	broad.mit.edu	37	chr15	50570866	50570866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtctgaagacgagtcataGcttccaacttctgtctgtag	10	13	9	9	1	4	2	1	1	3	1	5	3	5	2	1	0	2	2	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570866G>A	ENST00000380877.3	-	9	1538	c.1115C>T	c.(1114-1116)gCt>gTt	p.A372V	GABPB1_ENST00000543881.1_Missense_Mutation_p.A308V|GABPB1_ENST00000220429.8_Missense_Mutation_p.A384V	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	384					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACGAGTCATAGCTTCCAACTT	0.378													A	50570866	G	A	50570866	3	1	364	1	0	0	0	0	1	0	0	0	6210	971	34	2	40	2	GABPB1	15	50570866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15323	50570866	51960526	10988	34490											
GABPB1	2553	broad.mit.edu	37	chr15	50570879	50570879	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatagcttccaacttctGtctgtaggcctctgcttcct	6	15	7	13	0	4	0	1	0	3	0	6	0	6	0	3	1	3	3	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50570879G>A	ENST00000380877.3	-	9	1525	c.1102C>T	c.(1102-1104)Cag>Tag	p.Q368*	GABPB1_ENST00000543881.1_Nonsense_Mutation_p.Q304*|GABPB1_ENST00000220429.8_Nonsense_Mutation_p.Q380*	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	380					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						TCCAACTTCTGTCTGTAGGCC	0.383													A	50570879	G	A	50570879	4	1	364	1	0	0	0	0	0	1	0	0	6210	1386	48	2	53	2	GABPB1	15	50570879	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	50570879	51960513	10989	34491											
GABPB1	2553	broad.mit.edu	37	chr15	50595196	50595196	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcagttttacaaaatttaCtttgcgtgtgtacatcagca	12	15	7	7	1	1	0	1	0	0	0	1	0	1	0	0	0	6	4	0	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50595196C>A	ENST00000380877.3	-	4	824	c.401G>T	c.(400-402)aGt>aTt	p.S134I	GABPB1_ENST00000396464.3_Missense_Mutation_p.S134I|GABPB1_ENST00000543881.1_Missense_Mutation_p.S58I|GABPB1_ENST00000429662.2_Missense_Mutation_p.S134I|GABPB1_ENST00000560825.1_Missense_Mutation_p.S134I|GABPB1_ENST00000220429.8_Missense_Mutation_p.S134I|GABPB1_ENST00000359031.4_Missense_Mutation_p.S134I	NM_005254.5|NM_016654.4	NP_005245.2|NP_057738.1	Q06547	GABP1_HUMAN	GA binding protein transcription factor, beta subunit 1	134					positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			cervix(1)|endometrium(1)|large_intestine(7)|lung(5)	14						ACAAAATTTACTTTGCGTGTG	0.333													A	50595196	C	A	50595196	3	1	364	1	0	0	0	0	1	0	0	0	6210	565	20	4	858	4	GABPB1	15	50595196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24317	50595196	51936196	10990	34492											
USP8	9101	broad.mit.edu	37	chr15	50769490	50769490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggattttacttatcccTcattggaagaatcaattcct	11	16	6	8	0	2	1	2	0	0	1	4	3	4	3	2	2	1	0	2	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50769490T>C	ENST00000433963.1	+	11	1512	c.1012T>C	c.(1012-1014)Tca>Cca	p.S338P	USP8_ENST00000307179.4_Missense_Mutation_p.S338P|USP8_ENST00000425032.3_Missense_Mutation_p.S261P|USP8_ENST00000396444.3_Missense_Mutation_p.S338P			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	338					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TACTTATCCCTCATTGGAAGA	0.348													C	50769490	T	C	50769490	3	2	364	1	0	0	0	0	1	0	0	0	17191	1551	54	3	1046	3	USP8	15	50769490	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	174294	50769490	51761902	10991	34493											
USP8	9101	broad.mit.edu	37	chr15	50784986	50784986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttggaggttctggaccaGctcttactggacttcgtaac	7	15	10	9	1	2	0	0	0	2	0	3	3	2	3	1	4	3	3	1	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50784986G>A	ENST00000433963.1	+	16	2823	c.2323G>A	c.(2323-2325)Gct>Act	p.A775T	USP8_ENST00000307179.4_Missense_Mutation_p.A775T|USP8_ENST00000425032.3_Missense_Mutation_p.A669T|USP8_ENST00000396444.3_Missense_Mutation_p.A775T			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	775					cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTCTGGACCAGCTCTTACTGG	0.413													A	50784986	G	A	50784986	3	1	364	1	0	0	0	0	1	0	0	0	17191	971	34	2	2377	2	USP8	15	50784986	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15496	50784986	51746406	10992	34494											
TRPM7	54822	broad.mit.edu	37	chr15	50897065	50897065	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacatctgtcaacttaccaTttttccaatcatcattacat	14	15	1	11	0	4	0	3	0	1	0	5	0	5	0	2	0	4	0	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50897065T>G	ENST00000313478.7	-	21	3267	c.2986A>C	c.(2986-2988)Atg>Ctg	p.M996L	TRPM7_ENST00000560955.1_Missense_Mutation_p.M996L	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	996					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		CAACTTACCATTTTTCCAATC	0.289													G	50897065	T	G	50897065	3	3	364	1	0	0	0	0	1	0	0	0	16692	1493	52	5	2687	5	TRPM7	15	50897065	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112079	50897065	51634327	10993	34495											
TRPM7	54822	broad.mit.edu	37	chr15	50950006	50950006	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgacaaatttgacatcCtggaaggcatctattgaaca	13	12	8	8	0	1	3	0	3	1	0	2	4	2	4	1	2	2	2	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:50950006C>A	ENST00000313478.7	-	3	375	c.94G>T	c.(94-96)Gga>Tga	p.G32*	TRPM7_ENST00000560955.1_Nonsense_Mutation_p.G32*	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	32					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		ATTTGACATCCTGGAAGGCAT	0.259													A	50950006	C	A	50950006	4	1	364	1	0	0	0	0	0	1	0	0	16692	690	24	4	5651	4	TRPM7	15	50950006	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52941	50950006	51581386	10994	34496											
SPPL2A	84888	broad.mit.edu	37	chr15	51031993	51031993	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctttttcctcatttctCtatcttcagttgtcactgct	4	21	3	13	0	6	0	3	0	3	0	8	0	7	0	2	0	1	2	2	0	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51031993C>A	ENST00000261854.5	-	6	891	c.617G>T	c.(616-618)aGa>aTa	p.R206I		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	206						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		CCTCATTTCTCTATCTTCAGT	0.318													A	51031993	C	A	51031993	3	1	364	1	0	0	0	0	1	0	0	0	15184	913	32	4	985	4	SPPL2A	15	51031993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81987	51031993	51499399	10995	34497											
AP4E1	23431	broad.mit.edu	37	chr15	51242130	51242130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taactttctgagactactagCggaaggttggtacactatta	12	13	9	7	1	1	1	0	1	1	1	1	3	1	2	0	3	4	2	0	3	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51242130C>T	ENST00000261842.5	+	12	1530	c.1424C>T	c.(1423-1425)gCg>gTg	p.A475V	AP4E1_ENST00000560508.1_Missense_Mutation_p.A400V	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	475					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AGACTACTAGCGGAAGGTTGG	0.328													T	51242130	C	T	51242130	3	4	364	1	0	0	0	0	1	0	0	0	754	768	27	1	1470	1	AP4E1	15	51242130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210137	51242130	51289262	10996	34498											
DMXL2	23312	broad.mit.edu	37	chr15	51772245	51772245	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtacaatacaggattagctAtgactgtttttgttgacgca	12	14	9	6	1	0	2	0	2	0	0	0	3	0	3	0	1	3	5	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51772245A>G	ENST00000251076.5	-	25	6943	c.6656T>C	c.(6655-6657)aTa>aCa	p.I2219T	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.I1583T|DMXL2_ENST00000543779.2_Missense_Mutation_p.I2219T	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2219						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		AGGATTAGCTATGACTGTTTT	0.408													G	51772245	A	G	51772245	3	3	364	1	0	0	0	0	1	0	0	0	4634	449	16	3	2533	3	DMXL2	15	51772245	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	530115	51772245	50759147	10997	34499											
DMXL2	23312	broad.mit.edu	37	chr15	51828821	51828821	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcccactgatttaaagaaCcatctatgtgtttagagatc	12	13	7	9	0	1	3	0	1	1	2	2	4	1	3	2	0	2	1	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51828821C>T	ENST00000251076.5	-	12	2143	c.1856G>A	c.(1855-1857)gGt>gAt	p.G619D	DMXL2_ENST00000449909.3_Missense_Mutation_p.G619D|DMXL2_ENST00000543779.2_Missense_Mutation_p.G619D	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	619						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ATTTAAAGAACCATCTATGTG	0.418													T	51828821	C	T	51828821	3	4	364	1	0	0	0	0	1	0	0	0	4634	507	18	2	7385	2	DMXL2	15	51828821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56576	51828821	50702571	10998	34500											
SCG3	29106	broad.mit.edu	37	chr15	51975415	51975415	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttggggctattcttccaGaaaacaagccaggtcagagc	11	9	12	9	0	2	2	1	0	1	2	3	2	3	2	2	4	3	2	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51975415G>T	ENST00000220478.3	+	4	584		c.e4-1		SCG3_ENST00000542355.2_Splice_Site	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III						platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TATTCTTCCAGAAAACAAGCC	0.343													T	51975415	G	T	51975415	5	4	364	1	0	0	0	0	0	0	1	0	13984	956	33	4	195	4	SCG3	15	51975415	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146594	51975415	50555977	10999	34501											
SCG3	29106	broad.mit.edu	37	chr15	51984486	51984486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagacaactttgaggaacTccaatatttcccaaatttct	14	13	5	9	0	1	3	0	2	1	1	3	4	3	4	2	1	2	0	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:51984486T>C	ENST00000220478.3	+	7	1224	c.821T>C	c.(820-822)cTc>cCc	p.L274P	SCG3_ENST00000542355.2_Missense_Mutation_p.L42P	NM_013243.3	NP_037375.2	Q8WXD2	SCG3_HUMAN	secretogranin III	274				EEL -> RDF (in Ref. 1; AAD44483).	platelet activation|platelet degranulation	extracellular region|stored secretory granule				breast(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				all cancers(107;0.00488)		TTTGAGGAACTCCAATATTTC	0.383													C	51984486	T	C	51984486	3	2	364	1	0	0	0	0	1	0	0	0	13984	1551	54	3	847	3	SCG3	15	51984486	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9071	51984486	50546906	11000	34502											
TMOD2	29767	broad.mit.edu	37	chr15	52060587	52060587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaaagacagagaggaCtttgtgcccttcactggaga	14	7	12	8	0	1	4	1	0	0	4	1	8	1	5	1	2	2	0	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52060587C>T	ENST00000249700.4	+	3	476	c.255C>T	c.(253-255)gaC>gaT	p.D85D	TMOD2_ENST00000435126.2_Silent_p.D85D|TMOD2_ENST00000539962.2_Silent_p.D41D	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	85					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		ACAGAGAGGACTTTGTGCCCT	0.502													T	52060587	C	T	52060587	2	4	364	1	0	0	0	0	0	0	0	1	16334	564	20	2		2	TMOD2	15	52060587	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76101	52060587	50470805	11001	34503											
TMOD3	29766	broad.mit.edu	37	chr15	52181338	52181338	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgttgaccaagaacatttTtcaagtgagtacttaaaatg	14	13	9	5	0	1	3	1	2	0	1	1	3	1	3	1	1	2	2	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52181338T>G	ENST00000308580.7	+	5	773	c.492T>G	c.(490-492)ttT>ttG	p.F164L	RP11-56B16.5_ENST00000558142.1_RNA|TMOD3_ENST00000544199.1_Missense_Mutation_p.F164L	NM_014547.4	NP_055362.1	Q9NYL9	TMOD3_HUMAN	tropomodulin 3 (ubiquitous)	164						cytoplasm|cytoskeleton	actin binding|tropomyosin binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|stomach(1)	14				all cancers(107;0.00194)		AAGAACATTTTTCAAGTGAGT	0.299													G	52181338	T	G	52181338	3	3	364	1	0	0	0	0	1	0	0	0	16335	1838	64	5	506	5	TMOD3	15	52181338	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	120751	52181338	50350054	11002	34504											
LEO1	123169	broad.mit.edu	37	chr15	52242105	52242105	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggttccaggtaactggcGctcagcccccgctggtgctg	5	9	13	14	2	2	0	2	0	0	0	3	0	3	0	3	4	3	5	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52242105G>A	ENST00000299601.5	-	10	1758	c.1698C>T	c.(1696-1698)agC>agT	p.S566S	LEO1_ENST00000315141.5_Silent_p.S506S	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	566					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		GGTAACTGGCGCTCAGCCCCC	0.517													A	52242105	G	A	52242105	2	1	364	1	0	0	0	0	0	0	0	1	8785	1078	38	1		1	LEO1	15	52242105	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60767	52242105	50289287	11003	34505											
BCL2L10	10017	broad.mit.edu	37	chr15	52402056	52402056	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaaactcataataatcGtgtccagagataaatgaagg	17	12	7	5	1	1	2	1	1	0	1	3	3	2	2	1	1	1	0	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52402056G>A	ENST00000260442.3	-	2	652	c.604C>T	c.(604-606)Cga>Tga	p.R202*	BCL2L10_ENST00000561198.1_Missense_Mutation_p.T225M	NM_020396.2	NP_065129.1	Q9HD36	B2L10_HUMAN	BCL2-like 10 (apoptosis facilitator)	192					activation of caspase activity|anti-apoptosis|female gamete generation|spermatogenesis	cytosol|integral to membrane|membrane fraction|mitochondrion|nuclear membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	2				all cancers(107;0.0148)		CATAATAATCGTGTCCAGAGA	0.433													A	52402056	G	A	52402056	4	1	364	1	0	0	0	0	0	1	0	0	1373	1153	40	1	14	1	BCL2L10	15	52402056	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159951	52402056	50129336	11004	34506											
GNB5	10681	broad.mit.edu	37	chr15	52446271	52446271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccgctccgccacctggtGcactggaatgacaaggccat	9	6	10	16	2	0	1	0	1	0	0	1	2	1	2	5	3	1	2	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52446271G>A	ENST00000261837.7	-	4	306	c.241C>T	c.(241-243)Cac>Tac	p.H81Y	GNB5_ENST00000560116.1_Missense_Mutation_p.H39Y|GNB5_ENST00000396335.4_Missense_Mutation_p.H39Y|GNB5_ENST00000358784.7_Missense_Mutation_p.H39Y	NM_016194.3	NP_057278.2	O14775	GBB5_HUMAN	guanine nucleotide binding protein (G protein), beta 5	81						heterotrimeric G-protein complex	GTPase activity|signal transducer activity			large_intestine(1)|lung(1)	2				all cancers(107;0.0163)		GCCACCTGGTGCACTGGAATG	0.592													A	52446271	G	A	52446271	3	1	364	1	0	0	0	0	1	0	0	0	6577	1319	46	2	986	2	GNB5	15	52446271	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44215	52446271	50085121	11005	34507											
MYO5C	55930	broad.mit.edu	37	chr15	52539740	52539740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaatcattgaaccaaaaGgagaaggaggagttggattt	15	10	12	4	0	1	2	1	1	0	1	1	6	1	5	1	4	1	2	1	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52539740G>T	ENST00000261839.7	-	15	1957	c.1796C>A	c.(1795-1797)cCt>cAt	p.P599H	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	599	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAACCAAAAGGAGAAGGAGG	0.438													T	52539740	G	T	52539740	3	4	364	1	0	0	0	0	1	0	0	0	10156	1000	35	4	3540	4	MYO5C	15	52539740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93469	52539740	49991652	11006	34508											
MYO5A	4644	broad.mit.edu	37	chr15	52605916	52605916	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacccgtgaaatgaagcccaGgccgaggctggctggaatct	10	6	14	11	2	1	2	0	2	1	0	1	5	1	3	3	4	1	2	3	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52605916G>A	ENST00000399231.3	-	41	5788	c.5545C>T	c.(5545-5547)Ctg>Ttg	p.L1849L	MYO5A_ENST00000356338.6_Silent_p.L1822L|MYO5A_ENST00000553916.1_Silent_p.L1847L|MYO5A_ENST00000358212.6_Silent_p.L1874L|MYO5A_ENST00000399233.2_Silent_p.L1846L	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1849					actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ATGAAGCCCAGGCCGAGGCTG	0.463													A	52605916	G	A	52605916	2	1	364	1	0	0	0	0	0	0	0	1	10154	991	35	2		2	MYO5A	15	52605916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66176	52605916	49925476	11007	34509											
MYO5A	4644	broad.mit.edu	37	chr15	52613635	52613635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccaagtcactcagcacctgCcgatactcagccaggtcaaa	12	6	8	15	1	4	0	4	0	0	0	4	1	4	0	4	1	4	1	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52613635C>T	ENST00000399231.3	-	37	5040	c.4797G>A	c.(4795-4797)cgG>cgA	p.R1599R	MYO5A_ENST00000356338.6_Silent_p.R1572R|MYO5A_ENST00000553916.1_Silent_p.R1597R|MYO5A_ENST00000358212.6_Silent_p.R1624R|MYO5A_ENST00000399233.2_Silent_p.R1596R	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	1599	Dilute.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCAGCACCTGCCGATACTCAG	0.502													T	52613635	C	T	52613635	2	4	364	1	0	0	0	0	0	0	0	1	10154	726	26	2		2	MYO5A	15	52613635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7719	52613635	49917757	11008	34510											
MYO5A	4644	broad.mit.edu	37	chr15	52671910	52671910	+	Frame_Shift_Del	DEL	A	A	-																															ttaggacacggtagcggctgAaaaattcttggtaagtccac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:52671910delA	ENST00000399231.3	-	18	2363	c.2120delT	c.(2119-2121)ttcfs	p.F707fs	MYO5A_ENST00000356338.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000553916.1_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000358212.6_Frame_Shift_Del_p.F707fs|MYO5A_ENST00000399233.2_Frame_Shift_Del_p.F707fs	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	707	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTAGCGGCTGAAAAATTCTTG	0.388													-	52671910	A	-	52671910	7	5	364	1	0	1	0	1	0	0	0	0	10154	246	9	0	3543	0	MYO5A	15	52671910	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	58275	52671910	49859482	11009	34511											
WDR72	256764	broad.mit.edu	37	chr15	53907678	53907678	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactaatttattaactaaaaAtagtctgctcaacaaataaa	21	12	2	6	0	2	0	1	0	1	0	2	0	2	0	0	0	4	1	0	0	12	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53907678A>C	ENST00000396328.1	-	15	2964	c.2725T>G	c.(2725-2727)Ttt>Gtt	p.F909V	WDR72_ENST00000557913.1_Missense_Mutation_p.F906V|WDR72_ENST00000559418.1_Missense_Mutation_p.F919V|WDR72_ENST00000360509.5_Missense_Mutation_p.F909V	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	909										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTAACTAAAAATAGTCTGCTC	0.333													C	53907678	A	C	53907678	3	2	364	1	0	0	0	0	1	0	0	0	17424	101	4	5	607	5	WDR72	15	53907678	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1235768	53907678	48623714	11010	34512											
WDR72	256764	broad.mit.edu	37	chr15	53957930	53957930	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacaattaagaataattcGtgctctttctcctgtctcat	12	15	4	10	1	3	1	1	0	3	1	6	1	3	1	1	0	2	1	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:53957930G>A	ENST00000396328.1	-	14	2040	c.1801C>T	c.(1801-1803)Cga>Tga	p.R601*	WDR72_ENST00000557913.1_Nonsense_Mutation_p.R598*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.R611*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R601*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	601										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		AGAATAATTCGTGCTCTTTCT	0.383													A	53957930	G	A	53957930	4	1	364	1	0	0	0	0	0	1	0	0	17424	1153	40	1	1535	1	WDR72	15	53957930	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50252	53957930	48573462	11011	34513											
UNC13C	440279	broad.mit.edu	37	chr15	54305610	54305610	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcagctctgacggggaGcgtactctacatggcttaaa	10	8	14	9	2	2	1	0	1	2	0	2	3	2	2	0	4	4	4	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54305610G>T	ENST00000545554.1	+	1	510	c.510G>T	c.(508-510)gaG>gaT	p.E170D	UNC13C_ENST00000537900.1_Missense_Mutation_p.E170D|UNC13C_ENST00000260323.11_Missense_Mutation_p.E170D			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	170					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTGACGGGGAGCGTACTCTAC	0.473													T	54305610	G	T	54305610	3	4	364	1	0	0	0	0	1	0	0	0	17088	962	34	4	512	4	UNC13C	15	54305610	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347680	54305610	48225782	11012	34514											
UNC13C	440279	broad.mit.edu	37	chr15	54307635	54307635	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaactgcaaatgagtcaagTaccacacttgactctgatgt	13	11	7	10	0	3	3	2	3	1	0	3	3	3	3	1	0	3	2	1	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54307635T>C	ENST00000545554.1	+	1	2535	c.2535T>C	c.(2533-2535)agT>agC	p.S845S	UNC13C_ENST00000537900.1_Silent_p.S845S|UNC13C_ENST00000260323.11_Silent_p.S845S			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	845					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		ATGAGTCAAGTACCACACTTG	0.428													C	54307635	T	C	54307635	2	2	364	1	0	0	0	0	0	0	0	1	17088	1635	57	3		3	UNC13C	15	54307635	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2025	54307635	48223757	11013	34515											
UNC13C	440279	broad.mit.edu	37	chr15	54799345	54799345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgctgctccagtatgctGcaattgtatcaagtgatttc	10	14	9	8	0	1	1	1	1	0	0	3	1	2	1	1	0	4	6	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:54799345G>A	ENST00000545554.1	+	22	5332	c.5332G>A	c.(5332-5334)Gca>Aca	p.A1778T	UNC13C_ENST00000537900.1_Missense_Mutation_p.A1776T|UNC13C_ENST00000260323.11_Missense_Mutation_p.A1778T			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1778	MHD1.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CCAGTATGCTGCAATTGTATC	0.313													A	54799345	G	A	54799345	3	1	364	1	0	0	0	0	1	0	0	0	17088	1319	46	2	5414	2	UNC13C	15	54799345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491710	54799345	47732047	11014	34516											
CCPG1	9236	broad.mit.edu	37	chr15	55652430	55652430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccttcacagcttctttaGcctgcttaattttctcttta	6	21	3	11	0	3	0	1	0	2	0	5	0	4	0	2	0	3	2	2	0	3	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55652430G>A	ENST00000310958.6	-	8	1839	c.1541C>T	c.(1540-1542)gCt>gTt	p.A514V	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000569205.1_Missense_Mutation_p.A514V|CCPG1_ENST00000425574.3_Intron|CCPG1_ENST00000442196.3_Missense_Mutation_p.A514V	NM_001204450.1|NM_001204451.1|NM_004748.4|NM_020739.3	NP_001191379.1|NP_001191380.1|NP_004739.3|NP_065790.2	Q9ULG6	CCPG1_HUMAN	cell cycle progression 1	514					cell cycle	integral to membrane				autonomic_ganglia(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|stomach(3)	30				all cancers(107;0.0354)		AGCTTCTTTAGCCTGCTTAAT	0.333													A	55652430	G	A	55652430	3	1	364	1	0	0	0	0	1	0	0	0	2968	971	34	2	736	2	CCPG1	15	55652430	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	853085	55652430	46878962	11015	34517											
PRTG	283659	broad.mit.edu	37	chr15	55912934	55912934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agttgtttttaattataggaCcatagctattaattatcagg	13	17	7	4	0	1	0	1	0	0	0	1	1	1	1	1	2	1	3	1	2	7	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55912934C>T	ENST00000389286.4	-	19	3172	c.3125G>A	c.(3124-3126)gGt>gAt	p.G1042D		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1042					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AATTATAGGACCATAGCTATT	0.323													T	55912934	C	T	55912934	3	4	364	1	0	0	0	0	1	0	0	0	12723	507	18	2	335	2	PRTG	15	55912934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260504	55912934	46618458	11016	34518											
PRTG	283659	broad.mit.edu	37	chr15	55919209	55919209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagcaatggaaacacacctgGctttacttcggtatatcaag	13	11	8	9	1	1	0	1	0	0	0	2	1	1	1	1	3	3	3	1	3	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:55919209G>A	ENST00000389286.4	-	17	2971	c.2924C>T	c.(2923-2925)gCc>gTc	p.A975V		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	975					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		AACACACCTGGCTTTACTTCG	0.418													A	55919209	G	A	55919209	3	1	364	1	0	0	0	0	1	0	0	0	12723	1203	42	2	544	2	PRTG	15	55919209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6275	55919209	46612183	11017	34519											
NEDD4	4734	broad.mit.edu	37	chr15	56130001	56130001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatacctctttaaaagcagCcatttgcttctggattcggt	10	14	8	9	1	2	0	0	0	2	0	3	2	2	1	2	2	4	2	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56130001C>T	ENST00000508342.1	-	20	3804	c.3505G>A	c.(3505-3507)Gct>Act	p.A1169T	NEDD4_ENST00000435532.3_Missense_Mutation_p.A750T|NEDD4_ENST00000506154.1_Missense_Mutation_p.A1153T|NEDD4_ENST00000338963.2_Missense_Mutation_p.A1097T	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1169	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		TTAAAAGCAGCCATTTGCTTC	0.328													T	56130001	C	T	56130001	3	4	364	1	0	0	0	0	1	0	0	0	10386	739	26	2	478	2	NEDD4	15	56130001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210792	56130001	46401391	11018	34520											
NEDD4	4734	broad.mit.edu	37	chr15	56134236	56134236	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatccaatcccttttcaccAtcaaactcaatccacagtcg	13	11	2	15	1	3	0	3	0	0	0	7	0	6	0	4	0	1	0	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56134236A>G	ENST00000508342.1	-	15	3290	c.2991T>C	c.(2989-2991)gaT>gaC	p.D997D	NEDD4_ENST00000435532.3_Silent_p.D578D|NEDD4_ENST00000506154.1_Silent_p.D981D|NEDD4_ENST00000338963.2_Silent_p.D925D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	997	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CCTTTTCACCATCAAACTCAA	0.428													G	56134236	A	G	56134236	2	3	364	1	0	0	0	0	0	0	0	1	10386	214	8	3		3	NEDD4	15	56134236	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4235	56134236	46397156	11019	34521											
NEDD4	4734	broad.mit.edu	37	chr15	56142924	56142924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttgaggtcagctgaCtggtctccactgtggcctag	5	12	13	11	0	3	2	1	2	2	0	4	2	3	2	2	4	1	2	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56142924C>T	ENST00000508342.1	-	10	2719	c.2420G>A	c.(2419-2421)aGt>aAt	p.S807N	NEDD4_ENST00000435532.3_Missense_Mutation_p.S388N|NEDD4_ENST00000506154.1_Missense_Mutation_p.S791N|NEDD4_ENST00000338963.2_Missense_Mutation_p.S735N	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	807	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		GGTCAGCTGACTGGTCTCCAC	0.443													T	56142924	C	T	56142924	3	4	364	1	0	0	0	0	1	0	0	0	10386	565	20	2	1603	2	NEDD4	15	56142924	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8688	56142924	46388468	11020	34522											
RFX7	64864	broad.mit.edu	37	chr15	56385982	56385982	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattacttttggtgaggtaaGatggtgtttggaactcataa	11	16	11	3	0	1	2	1	1	0	1	1	3	1	3	0	4	2	2	0	4	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56385982G>T	ENST00000423270.1	-	9	3943	c.3944C>A	c.(3943-3945)tCt>tAt	p.S1315Y	RFX7_ENST00000422057.1_Missense_Mutation_p.S1218Y|RFX7_ENST00000317318.6_Missense_Mutation_p.S1315Y|RFX7_ENST00000559447.2_Missense_Mutation_p.S1218Y	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	1218					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GGTGAGGTAAGATGGTGTTTG	0.388													T	56385982	G	T	56385982	3	4	364	1	0	0	0	0	1	0	0	0	13356	942	33	4	442	4	RFX7	15	56385982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	243058	56385982	46145410	11021	34523											
ZNF280D	54816	broad.mit.edu	37	chr15	56923983	56923983	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacattatctgatgctaatcGcaaatccttaatattctttg	12	17	4	8	1	2	1	0	1	2	0	4	1	3	1	1	0	2	2	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56923983G>A	ENST00000559237.1	-	21	3297	c.2614C>T	c.(2614-2616)Cga>Tga	p.R872*	ZNF280D_ENST00000267807.7_Nonsense_Mutation_p.R885*	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	885					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GATGCTAATCGCAAATCCTTA	0.343													A	56923983	G	A	56923983	4	1	364	1	0	0	0	0	0	1	0	0	17918	1095	38	1	290	1	ZNF280D	15	56923983	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538001	56923983	45607409	11022	34524											
ZNF280D	54816	broad.mit.edu	37	chr15	56993223	56993223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcaggcactggatttgatgTtggattcgtgtagtgttgac	7	14	15	5	1	0	2	0	2	0	0	1	4	0	4	0	4	0	5	0	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:56993223T>A	ENST00000559237.1	-	5	933	c.250A>T	c.(250-252)Aca>Tca	p.T84S	ZNF280D_ENST00000558320.1_Missense_Mutation_p.T97S|ZNF280D_ENST00000396245.1_5'UTR|ZNF280D_ENST00000559000.1_Missense_Mutation_p.T84S|ZNF280D_ENST00000267807.7_Missense_Mutation_p.T97S	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		GGATTTGATGTTGGATTCGTG	0.338													A	56993223	T	A	56993223	3	1	364	1	0	0	0	0	1	0	0	0	17918	1725	60	5	2814	5	ZNF280D	15	56993223	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	69240	56993223	45538169	11023	34525											
CGNL1	84952	broad.mit.edu	37	chr15	57745976	57745976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacgatgaactggacagtgCaaagcgatcggaggacaggg	13	4	16	8	3	0	1	0	1	0	0	1	6	0	4	0	4	3	2	0	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57745976C>T	ENST00000281282.5	+	7	2228	c.2150C>T	c.(2149-2151)gCa>gTa	p.A717V		NM_001252335.1|NM_032866.4	NP_001239264.1|NP_116255.2	Q0VF96	CGNL1_HUMAN	cingulin-like 1	717						myosin complex|tight junction	motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(14)|ovary(4)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)	60				all cancers(107;0.121)|GBM - Glioblastoma multiforme(80;0.186)		CTGGACAGTGCAAAGCGATCG	0.557													T	57745976	C	T	57745976	3	4	364	1	0	0	0	0	1	0	0	0	3334	710	25	2	2172	2	CGNL1	15	57745976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	752753	57745976	44785416	11024	34526											
GCOM1	145781	broad.mit.edu	37	chr15	57924668	57924668	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccaatgctgaggtgatgCgagagatgaccaagaagctg	14	6	14	7	1	0	5	0	3	0	2	0	7	0	5	2	1	4	2	2	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57924668C>T	ENST00000574161.1	+	7	834	c.715C>T	c.(715-717)Cga>Tga	p.R239*	GCOM1_ENST00000380568.3_Nonsense_Mutation_p.R239*|GCOM1_ENST00000587652.1_Nonsense_Mutation_p.R239*|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Nonsense_Mutation_p.R239*|GCOM1_ENST00000572390.1_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380569.2_Nonsense_Mutation_p.R239*|GCOM1_ENST00000380560.2_Nonsense_Mutation_p.R170*|GCOM1_ENST00000380561.2_Nonsense_Mutation_p.R208*|GCOM1_ENST00000396180.1_Nonsense_Mutation_p.R208*|MYZAP_ENST00000380565.4_Nonsense_Mutation_p.R239*	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		239					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						TGAGGTGATGCGAGAGATGAC	0.512													T	57924668	C	T	57924668	4	4	364	1	0	0	0	0	0	1	0	0	6359	760	27	1	741	1	GCOM1	15	57924668	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	178692	57924668	44606724	11025	34527											
GCOM1	145781	broad.mit.edu	37	chr15	57925929	57925929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggacaggctgattgagcGcatggaaaaggtaggacaca	13	6	15	7	1	0	2	0	2	0	0	0	5	0	5	0	5	1	4	0	5	3	2	rs144667495		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:57925929G>A	ENST00000574161.1	+	8	1042	c.923G>A	c.(922-924)cGc>cAc	p.R308H	GCOM1_ENST00000380568.3_Missense_Mutation_p.R308H|GCOM1_ENST00000587652.1_Missense_Mutation_p.R308H|POLR2M_ENST00000380563.2_5'UTR|MYZAP_ENST00000267853.5_Missense_Mutation_p.R308H|GCOM1_ENST00000572390.1_Missense_Mutation_p.R308H|GCOM1_ENST00000380569.2_Missense_Mutation_p.R308H|GCOM1_ENST00000380560.2_Missense_Mutation_p.R239H|GCOM1_ENST00000380561.2_Missense_Mutation_p.R277H|GCOM1_ENST00000396180.1_Missense_Mutation_p.R277H|MYZAP_ENST00000380565.4_Missense_Mutation_p.R308H	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		308					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						CTGATTGAGCGCATGGAAAAG	0.512													A	57925929	G	A	57925929	3	1	364	1	0	0	0	0	1	0	0	0	6359	1087	38	1	953	1	GCOM1	15	57925929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1261	57925929	44605463	11026	34528											
ADAM10	102	broad.mit.edu	37	chr15	58889778	58889778	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcccatttgataactctCtcggggccgctgacgctggg	5	11	13	12	3	1	2	0	2	1	0	4	2	2	2	2	3	1	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:58889778C>A	ENST00000260408.3	-	16	2658	c.2215G>T	c.(2215-2217)Gag>Tag	p.E739*	ADAM10_ENST00000396140.2_Nonsense_Mutation_p.E438*|ADAM10_ENST00000402627.1_Intron|ADAM10_ENST00000561288.1_Intron	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	739					cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TGATAACTCTCTCGGGGCCGC	0.468													A	58889778	C	A	58889778	4	1	364	1	0	0	0	0	0	1	0	0	234	922	32	4	35	4	ADAM10	15	58889778	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	963849	58889778	43641614	11027	34529											
FAM63B	54629	broad.mit.edu	37	chr15	59102556	59102556	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgatcttcttgatattcCtttgtaccatgggtggttag	7	19	9	6	0	2	2	0	2	2	0	3	2	3	2	2	2	1	2	2	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59102556C>A	ENST00000559228.1	+	4	1173	c.1091C>A	c.(1090-1092)cCt>cAt	p.P364H	FAM63B_ENST00000450403.2_Missense_Mutation_p.P364H			Q8NBR6	FA63B_HUMAN	family with sequence similarity 63, member B	364										central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTTGATATTCCTTTGTACCAT	0.343													A	59102556	C	A	59102556	3	1	364	1	0	0	0	0	1	0	0	0	5647	681	24	4	1105	4	FAM63B	15	59102556	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	212778	59102556	43428836	11028	34530											
SLTM	79811	broad.mit.edu	37	chr15	59179515	59179515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctctcgaggatgtctaGgatgagtgatatcaggcctg	8	11	13	9	1	3	2	1	2	2	0	4	5	3	4	2	3	1	0	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179515G>T	ENST00000380516.2	-	18	2687	c.2600C>A	c.(2599-2601)cCt>cAt	p.P867H	SLTM_ENST00000536328.1_Missense_Mutation_p.P436H	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	867	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGGATGTCTAGGATGAGTGAT	0.502													T	59179515	G	T	59179515	3	4	364	1	0	0	0	0	1	0	0	0	14848	1000	35	4	520	4	SLTM	15	59179515	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76959	59179515	43351877	11029	34531											
SLTM	79811	broad.mit.edu	37	chr15	59179566	59179566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccgttctcctttcgtctCgctcccctcgtacttctcgc	2	15	5	19	5	4	0	1	0	3	0	10	0	5	0	4	0	1	3	4	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59179566C>T	ENST00000380516.2	-	18	2636	c.2549G>A	c.(2548-2550)cGa>cAa	p.R850Q	SLTM_ENST00000536328.1_Missense_Mutation_p.R419Q	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	850	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCTTTCGTCTCGCTCCCCTCG	0.493													T	59179566	C	T	59179566	3	4	364	1	0	0	0	0	1	0	0	0	14848	884	31	1	571	1	SLTM	15	59179566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51	59179566	43351826	11030	34532											
SLTM	79811	broad.mit.edu	37	chr15	59182557	59182557	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtttttgcctttcaatttCtaggcgctctctctctctct	4	20	5	12	1	5	0	1	0	4	0	8	0	5	0	1	1	1	2	1	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59182557C>A	ENST00000380516.2	-	15	2089	c.2002G>T	c.(2002-2004)Gaa>Taa	p.E668*	SLTM_ENST00000536328.1_Nonsense_Mutation_p.E237*|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	668	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTTCAATTTCTAGGCGCTCT	0.458													A	59182557	C	A	59182557	4	1	364	1	0	0	0	0	0	1	0	0	14848	922	32	4	1130	4	SLTM	15	59182557	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2991	59182557	43348835	11031	34533											
SLTM	79811	broad.mit.edu	37	chr15	59185096	59185096	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagactctcttcctacCttcgaagttccattgctcgt	10	13	5	13	2	1	1	0	0	1	1	6	2	3	1	3	0	3	2	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59185096C>A	ENST00000380516.2	-	14	1985	c.1898G>T	c.(1897-1899)aGa>aTa	p.R633I	SLTM_ENST00000536328.1_Splice_Site_p.R202I|AC025918.2_ENST00000452467.1_RNA	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	633	Arg/Glu-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTCTTCCTACCTTCGAAGTTC	0.358													A	59185096	C	A	59185096	5	1	364	1	0	0	0	0	0	0	1	0	14848	695	24	4	1238	4	SLTM	15	59185096	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2539	59185096	43346296	11032	34534											
RNF111	54778	broad.mit.edu	37	chr15	59373204	59373204	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcatggaaacccccctcCtcagactcagcctccgcctc	7	9	5	20	1	3	1	3	0	1	1	7	2	5	2	7	1	2	0	7	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59373204C>A	ENST00000348370.4	+	8	2451	c.2018C>A	c.(2017-2019)cCt>cAt	p.P673H	RNF111_ENST00000557998.1_Missense_Mutation_p.P673H|RNF111_ENST00000559209.1_Missense_Mutation_p.P673H|RNF111_ENST00000434298.1_Missense_Mutation_p.P673H|RNF111_ENST00000561186.1_Missense_Mutation_p.P673H	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	673	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AACCCCCCTCCTCAGACTCAG	0.448													A	59373204	C	A	59373204	3	1	364	1	0	0	0	0	1	0	0	0	13516	681	24	4	2044	4	RNF111	15	59373204	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188108	59373204	43158188	11033	34535											
RNF111	54778	broad.mit.edu	37	chr15	59384789	59384789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggactgaggaagacacagaGgaaaaatgtactatctgttt	15	9	12	5	0	1	3	0	1	1	2	1	6	1	6	0	3	1	2	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59384789G>T	ENST00000348370.4	+	13	3226	c.2793G>T	c.(2791-2793)gaG>gaT	p.E931D	RNF111_ENST00000559209.1_Missense_Mutation_p.E940D|RNF111_ENST00000434298.1_Missense_Mutation_p.E948D|RNF111_ENST00000557998.1_Missense_Mutation_p.E939D|RNF111_ENST00000561186.1_Missense_Mutation_p.E948D	NM_001270528.1|NM_001270529.1|NM_017610.7	NP_001257457.1|NP_001257458.1|NP_060080.6	Q6ZNA4	RN111_HUMAN	ring finger protein 111	939				E -> G (in Ref. 2; CAD98031).	multicellular organismal development|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35				all cancers(107;0.194)		AAGACACAGAGGAAAAATGTA	0.368													T	59384789	G	T	59384789	3	4	364	1	0	0	0	0	1	0	0	0	13516	991	35	4	2839	4	RNF111	15	59384789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11585	59384789	43146603	11034	34536											
MYO1E	4643	broad.mit.edu	37	chr15	59487690	59487690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagtctctgggcttcttgGtttcgtttggcttgatgcag	3	16	12	10	1	2	1	0	1	2	0	4	1	2	1	1	3	1	5	1	3	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59487690G>A	ENST00000288235.4	-	17	2174	c.1775C>T	c.(1774-1776)aCc>aTc	p.T592I		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	592	Myosin head-like.				actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCTTCTTGGTTTCGTTTGG	0.522													A	59487690	G	A	59487690	3	1	364	1	0	0	0	0	1	0	0	0	10148	1261	44	2	1599	2	MYO1E	15	59487690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102901	59487690	43043702	11035	34537											
GTF2A2	2958	broad.mit.edu	37	chr15	59944473	59944473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttctgtataactgatatgCcatggcttaggaggaagaat	13	13	10	5	0	1	2	0	1	1	1	1	4	1	4	1	3	2	2	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:59944473C>T	ENST00000396060.2	-	2	185	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GTF2A2_ENST00000396064.3_Missense_Mutation_p.A2T|GTF2A2_ENST00000267869.4_Intron|AC092755.4_ENST00000441746.1_RNA|GTF2A2_ENST00000484743.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000396061.1_Missense_Mutation_p.A2T|GTF2A2_ENST00000396063.1_Missense_Mutation_p.A2T	NM_004492.2	NP_004483.1	P52657	T2AG_HUMAN	general transcription factor IIA, 2, 12kDa	2					interspecies interaction between organisms|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	transcription factor TFIIA complex	protein heterodimerization activity|protein homodimerization activity|TBP-class protein binding|transcription coactivator activity			central_nervous_system(2)|kidney(2)|lung(1)	5						AACTGATATGCCATGGCTTAG	0.318													T	59944473	C	T	59944473	3	4	364	1	0	0	0	0	1	0	0	0	6909	739	26	2	341	2	GTF2A2	15	59944473	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	456783	59944473	42586919	11036	34538											
NARG2	79664	broad.mit.edu	37	chr15	60760498	60760498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttctacagaacttgctgagGcattcaaattttctcctata	11	16	5	9	0	3	2	1	1	2	1	4	2	3	2	1	1	3	2	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:60760498G>T	ENST00000261520.4	-	4	404	c.170C>A	c.(169-171)gCc>gAc	p.A57D	NARG2_ENST00000439632.1_Intron|NARG2_ENST00000558654.1_Intron|NARG2_ENST00000561114.1_Missense_Mutation_p.A57D	NM_024611.4	NP_078887.2	Q659A1	NARG2_HUMAN	NMDA receptor regulated 2	57						nucleus				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	32						ACTTGCTGAGGCATTCAAATT	0.343													T	60760498	G	T	60760498	3	4	364	1	0	0	0	0	1	0	0	0	10245	1203	42	4	2830	4	NARG2	15	60760498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	816025	60760498	41770894	11037	34539											
VPS13C	54832	broad.mit.edu	37	chr15	62165444	62165444	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagattcagcaaagaacttaCtcgcagaaagccctttcctc	14	9	6	12	1	1	3	1	0	0	3	4	3	2	3	2	0	4	2	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62165444C>A	ENST00000261517.5	-	78	10652		c.e78+1		VPS13C_ENST00000249837.3_Splice_Site|VPS13C_ENST00000395896.4_Splice_Site|VPS13C_ENST00000395898.3_Splice_Site	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)						protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAAGAACTTACTCGCAGAAAG	0.418													A	62165444	C	A	62165444	5	1	364	1	0	0	0	0	0	0	1	0	17293	579	20	4	742	4	VPS13C	15	62165444	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1404946	62165444	40365948	11038	34540											
VPS13C	54832	broad.mit.edu	37	chr15	62199530	62199530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctggtaccagtaggaTctgcccaggcaaaaagtcga	11	10	11	9	1	2	0	0	0	2	0	3	2	2	1	2	3	2	4	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199530T>C	ENST00000261517.5	-	66	9111	c.9038A>G	c.(9037-9039)gAt>gGt	p.D3013G	VPS13C_ENST00000249837.3_Missense_Mutation_p.D2970G|VPS13C_ENST00000395896.4_Missense_Mutation_p.D3013G|VPS13C_ENST00000395898.3_Missense_Mutation_p.D2970G	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3013					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						ACCAGTAGGATCTGCCCAGGC	0.413													C	62199530	T	C	62199530	3	2	364	1	0	0	0	0	1	0	0	0	17293	1435	50	3	2331	3	VPS13C	15	62199530	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34086	62199530	40331862	11039	34541											
VPS13C	54832	broad.mit.edu	37	chr15	62199548	62199548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctgcccaggcaaaaagtCgagcctgtcttggcagcaag	11	7	12	11	1	2	0	0	0	2	0	3	2	2	0	2	2	3	3	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62199548C>T	ENST00000261517.5	-	66	9093	c.9020G>A	c.(9019-9021)cGa>cAa	p.R3007Q	VPS13C_ENST00000249837.3_Missense_Mutation_p.R2964Q|VPS13C_ENST00000395896.4_Missense_Mutation_p.R3007Q|VPS13C_ENST00000395898.3_Missense_Mutation_p.R2964Q	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	3007					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GGCAAAAAGTCGAGCCTGTCT	0.418													T	62199548	C	T	62199548	3	4	364	1	0	0	0	0	1	0	0	0	17293	884	31	1	2349	1	VPS13C	15	62199548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	62199548	40331844	11040	34542											
VPS13C	54832	broad.mit.edu	37	chr15	62201256	62201256	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcaggtgcagatccctcAtggtaatcagaaaaagttat	15	9	10	7	0	2	2	2	0	0	2	3	2	3	2	1	3	1	4	1	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62201256A>G	ENST00000261517.5	-	65	8986	c.8913T>C	c.(8911-8913)caT>caC	p.H2971H	VPS13C_ENST00000249837.3_Silent_p.H2928H|VPS13C_ENST00000395896.4_Silent_p.H2971H|VPS13C_ENST00000395898.3_Silent_p.H2928H	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2971					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGATCCCTCATGGTAATCAG	0.373													G	62201256	A	G	62201256	2	3	364	1	0	0	0	0	0	0	0	1	17293	214	8	3		3	VPS13C	15	62201256	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1708	62201256	40330136	11041	34543											
VPS13C	54832	broad.mit.edu	37	chr15	62238573	62238573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtctggcaaacacatcaGtctgcttaggcttcacagaa	13	10	8	10	0	4	1	2	0	2	1	4	1	4	1	0	2	2	3	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62238573G>A	ENST00000261517.5	-	44	4986	c.4913C>T	c.(4912-4914)aCt>aTt	p.T1638I	VPS13C_ENST00000249837.3_Missense_Mutation_p.T1595I|VPS13C_ENST00000395896.4_Missense_Mutation_p.T1638I|VPS13C_ENST00000395898.3_Missense_Mutation_p.T1595I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1638					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						AAACACATCAGTCTGCTTAGG	0.318													A	62238573	G	A	62238573	3	1	364	1	0	0	0	0	1	0	0	0	17293	1029	36	2	6544	2	VPS13C	15	62238573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37317	62238573	40292819	11042	34544											
VPS13C	54832	broad.mit.edu	37	chr15	62254064	62254064	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggcagcactcagagactctTtggctgtctggaaattattc	9	13	10	9	0	3	1	1	0	2	1	4	3	3	2	0	3	1	3	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62254064T>A	ENST00000261517.5	-	35	3705	c.3632A>T	c.(3631-3633)aAa>aTa	p.K1211I	VPS13C_ENST00000249837.3_Missense_Mutation_p.K1168I|VPS13C_ENST00000395896.4_Missense_Mutation_p.K1211I|VPS13C_ENST00000395898.3_Missense_Mutation_p.K1168I	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1211					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CAGAGACTCTTTGGCTGTCTG	0.418													A	62254064	T	A	62254064	3	1	364	1	0	0	0	0	1	0	0	0	17293	1841	64	5	7861	5	VPS13C	15	62254064	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15491	62254064	40277328	11043	34545											
VPS13C	54832	broad.mit.edu	37	chr15	62277144	62277144	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaatattcttgttttCtcttatcgtaacagaggtgc	8	18	8	7	1	3	1	0	0	3	1	5	2	3	2	0	2	2	2	0	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62277144C>A	ENST00000261517.5	-	19	1706	c.1633G>T	c.(1633-1635)Gaa>Taa	p.E545*	VPS13C_ENST00000249837.3_Nonsense_Mutation_p.E502*|VPS13C_ENST00000395896.4_Nonsense_Mutation_p.E545*|VPS13C_ENST00000395898.3_Nonsense_Mutation_p.E502*	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	545					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTTGTTTTCTCTTATCGTA	0.323													A	62277144	C	A	62277144	4	1	364	1	0	0	0	0	0	1	0	0	17293	922	32	4	9924	4	VPS13C	15	62277144	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23080	62277144	40254248	11044	34546											
VPS13C	54832	broad.mit.edu	37	chr15	62302756	62302756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagctctgattctgcataaGgattcatgtagagttttgca	10	15	10	6	0	3	3	1	2	2	1	3	4	3	4	0	1	3	5	0	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62302756G>A	ENST00000261517.5	-	13	999	c.926C>T	c.(925-927)cCt>cTt	p.P309L	VPS13C_ENST00000249837.3_Missense_Mutation_p.P266L|VPS13C_ENST00000395896.4_Missense_Mutation_p.P309L|VPS13C_ENST00000395898.3_Missense_Mutation_p.P266L	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	309					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTCTGCATAAGGATTCATGTA	0.373													A	62302756	G	A	62302756	3	1	364	1	0	0	0	0	1	0	0	0	17293	1000	35	2	10655	2	VPS13C	15	62302756	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25612	62302756	40228636	11045	34547											
VPS13C	54832	broad.mit.edu	37	chr15	62316028	62316029	+	Frame_Shift_Ins	INS	-	-	T																															tcttaaaatgttttttgtgcINStttttacgtttacgtccttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62316028_62316029insT	ENST00000261517.5	-	7	537_538	c.464_465insA	c.(463-465)aagfs	p.K155fs	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395898.3_Intron|VPS13C_ENST00000395896.4_Frame_Shift_Ins_p.K155fs	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	155	Lys-rich.				protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GTTTTTTGTGCTTTTTACGTTT	0.332													T	62316029	-	T	62316028	7	5	364	1	0	1	1	0	0	0	0	0	17293	796	28	0	11140	0	VPS13C	15	62316028	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	13272	62316028	40215364	11046	34548											
VPS13C	54832	broad.mit.edu	37	chr15	62320617	62320617	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaactcccctgaatgtgTgcctgcatcccacatggcag	9	10	9	13	0	0	2	0	2	0	0	2	2	2	2	4	1	3	2	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62320617T>G	ENST00000261517.5	-	6	461	c.388A>C	c.(388-390)Aca>Cca	p.T130P	VPS13C_ENST00000249837.3_Intron|VPS13C_ENST00000395896.4_Missense_Mutation_p.T130P|VPS13C_ENST00000395898.3_Intron	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	130					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CCTGAATGTGTGCCTGCATCC	0.333													G	62320617	T	G	62320617	3	3	364	1	0	0	0	0	1	0	0	0	17293	1696	59	5	11221	5	VPS13C	15	62320617	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4589	62320617	40210775	11047	34549											
TLN2	83660	broad.mit.edu	37	chr15	62939551	62939551	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgtgtgcgccactgcaaCgtggtgaagaccatgcagtt	9	11	12	9	2	0	2	0	1	0	1	0	2	0	2	2	1	4	3	2	1	2	2	rs144527579	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62939551C>T	ENST00000561311.1	+	3	272	c.42C>T	c.(40-42)aaC>aaT	p.N14N	TLN2_ENST00000306829.6_Silent_p.N14N			Q9Y4G6	TLN2_HUMAN	talin 2	14					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCACTGCAACGTGGTGAAGA	0.493													T	62939551	C	T	62939551	2	4	364	1	0	0	0	0	0	0	0	1	16048	535	19	1		1	TLN2	15	62939551	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	618934	62939551	39591841	11048	34550											
TLN2	83660	broad.mit.edu	37	chr15	62994230	62994230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctacacagctgtgggatgtgCgatcaccactatttcttcca	9	12	8	12	1	2	0	1	0	1	0	3	2	3	1	2	1	3	1	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:62994230C>T	ENST00000561311.1	+	17	1966	c.1736C>T	c.(1735-1737)gCg>gTg	p.A579V	TLN2_ENST00000306829.6_Missense_Mutation_p.A579V			Q9Y4G6	TLN2_HUMAN	talin 2	579					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GTGGGATGTGCGATCACCACT	0.537													T	62994230	C	T	62994230	3	4	364	1	0	0	0	0	1	0	0	0	16048	768	27	1	1794	1	TLN2	15	62994230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54679	62994230	39537162	11049	34551											
TLN2	83660	broad.mit.edu	37	chr15	63017291	63017291	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagccagctgaagccactTccaggggaaacggtgagctg	11	5	15	10	1	0	3	0	2	0	1	1	5	1	4	3	3	5	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63017291T>C	ENST00000561311.1	+	26	3473	c.3243T>C	c.(3241-3243)ctT>ctC	p.L1081L	TLN2_ENST00000306829.6_Silent_p.L1081L			Q9Y4G6	TLN2_HUMAN	talin 2	1081	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						TGAAGCCACTTCCAGGGGAAA	0.493													C	63017291	T	C	63017291	2	2	364	1	0	0	0	0	0	0	0	1	16048	1770	62	3		3	TLN2	15	63017291	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23061	63017291	39514101	11050	34552											
TLN2	83660	broad.mit.edu	37	chr15	63055879	63055879	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcctggccacgagggaCgacatctctgtggaggtaag	10	6	15	10	2	1	1	0	0	1	1	2	5	1	3	2	4	1	1	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63055879C>T	ENST00000561311.1	+	39	5309	c.5079C>T	c.(5077-5079)gaC>gaT	p.D1693D	TLN2_ENST00000306829.6_Silent_p.D1693D|TLN2_ENST00000472902.1_Silent_p.D86D			Q9Y4G6	TLN2_HUMAN	talin 2	1693					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CCACGAGGGACGACATCTCTG	0.572													T	63055879	C	T	63055879	2	4	364	1	0	0	0	0	0	0	0	1	16048	535	19	1		1	TLN2	15	63055879	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38588	63055879	39475513	11051	34553											
TLN2	83660	broad.mit.edu	37	chr15	63127961	63127961	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccatccctgccaatgctgCagacgacggacagtggtcac	9	7	10	15	2	1	1	1	0	0	1	3	3	3	2	3	2	3	2	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63127961C>A	ENST00000561311.1	+	55	7384	c.7154C>A	c.(7153-7155)gCa>gAa	p.A2385E	TLN2_ENST00000306829.6_Missense_Mutation_p.A2385E|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2385	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GCCAATGCTGCAGACGACGGA	0.592													A	63127961	C	A	63127961	3	1	364	1	0	0	0	0	1	0	0	0	16048	710	25	4	7364	4	TLN2	15	63127961	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72082	63127961	39403431	11052	34554											
TPM1	7168	broad.mit.edu	37	chr15	63354834	63354834	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattggagaaaagcattgaTgacttagaaggtaagatctt	17	11	10	3	0	1	5	0	2	1	3	1	6	1	5	0	2	1	2	0	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63354834T>G	ENST00000357980.4	+	9	967	c.888T>G	c.(886-888)gaT>gaG	p.D296E	TPM1_ENST00000559281.1_Missense_Mutation_p.D218E|TPM1_ENST00000267996.7_Missense_Mutation_p.D254E|TPM1_ENST00000559556.1_Missense_Mutation_p.D254E|TPM1_ENST00000358278.3_Missense_Mutation_p.D254E|TPM1_ENST00000288398.6_Missense_Mutation_p.D254E|TPM1_ENST00000560445.1_Intron|TPM1_ENST00000334895.5_Missense_Mutation_p.D218E|TPM1_ENST00000559397.1_Missense_Mutation_p.D254E|TPM1_ENST00000560959.1_Missense_Mutation_p.D218E|TPM1_ENST00000317516.7_Missense_Mutation_p.D218E|TPM1_ENST00000403994.3_Missense_Mutation_p.D254E|TPM1_ENST00000404484.4_Missense_Mutation_p.D218E			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	254					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AAAGCATTGATGACTTAGAAG	0.368													G	63354834	T	G	63354834	3	3	364	1	0	0	0	0	1	0	0	0	16506	1461	51	5	1138	5	TPM1	15	63354834	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	226873	63354834	39176558	11053	34555											
TPM1	7168	broad.mit.edu	37	chr15	63363318	63363318	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatgccaaagaagaaaacCttagtatgcatcagatgctg	15	9	8	9	0	2	3	2	0	0	3	2	3	2	3	2	0	4	3	2	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63363318C>A	ENST00000357980.4	+	10	1007	c.928C>A	c.(928-930)Ctt>Att	p.L310I	TPM1_ENST00000267996.7_Missense_Mutation_p.L268I|TPM1_ENST00000559556.1_Missense_Mutation_p.L268I|TPM1_ENST00000358278.3_Missense_Mutation_p.L268I|TPM1_ENST00000559397.1_Missense_Mutation_p.L268I|TPM1_ENST00000404484.4_Missense_Mutation_p.L232I|RP11-244F12.2_ENST00000558905.1_RNA			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	268					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						AGAAGAAAACCTTAGTATGCA	0.388													A	63363318	C	A	63363318	3	1	364	1	0	0	0	0	1	0	0	0	16506	681	24	4	1355	4	TPM1	15	63363318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8484	63363318	39168074	11054	34556											
USP3	9960	broad.mit.edu	37	chr15	63866561	63866561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtcagttcagaagtaagcGctctaagaatcaagaaaatg	18	8	9	6	1	4	3	3	0	1	3	4	3	4	3	0	0	1	3	0	0	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63866561G>A	ENST00000268049.7	+	12	1313	c.989G>A	c.(988-990)cGc>cAc	p.R330H	USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000380324.3_Missense_Mutation_p.R352H|USP3_ENST00000540797.1_Missense_Mutation_p.R308H|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000536001.1_3'UTR|USP3_ENST00000559711.1_Missense_Mutation_p.R263H|USP3_ENST00000539772.1_Missense_Mutation_p.R103H|USP3-AS1_ENST00000560350.1_RNA|USP3_ENST00000558285.1_Missense_Mutation_p.R335H			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	352					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		AGAAGTAAGCGCTCTAAGAAT	0.308													A	63866561	G	A	63866561	3	1	364	1	0	0	0	0	1	0	0	0	17162	1087	38	1	1097	1	USP3	15	63866561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503243	63866561	38664831	11055	34557											
USP3	9960	broad.mit.edu	37	chr15	63880966	63880966	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaataaagttgatacataCgtagaatttccactgagagg	17	10	9	5	1	0	4	0	2	0	3	1	5	1	4	1	1	2	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63880966C>T	ENST00000268049.7	+	14	1539	c.1215C>T	c.(1213-1215)taC>taT	p.Y405Y	USP3_ENST00000558218.1_3'UTR|USP3-AS1_ENST00000559357.1_RNA|USP3_ENST00000380324.3_Silent_p.Y427Y|USP3_ENST00000540797.1_Silent_p.Y383Y|USP3-AS1_ENST00000558831.1_RNA|USP3-AS1_ENST00000559861.1_RNA|USP3_ENST00000559711.1_Silent_p.Y338Y|USP3_ENST00000539772.1_Silent_p.Y178Y|USP3-AS1_ENST00000560350.1_RNA|USP3-AS1_ENST00000559737.1_RNA|USP3-AS1_ENST00000560962.1_RNA|USP3_ENST00000558285.1_Silent_p.Y410Y			Q9Y6I4	UBP3_HUMAN	ubiquitin specific peptidase 3	427					DNA repair|histone deubiquitination|mitotic cell cycle|regulation of protein stability|ubiquitin-dependent protein catabolic process	nuclear chromatin	histone binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(3)|large_intestine(7)|lung(4)	14				GBM - Glioblastoma multiforme(80;0.0187)		TTGATACATACGTAGAATTTC	0.373													T	63880966	C	T	63880966	2	4	364	1	0	0	0	0	0	0	0	1	17162	547	19	1		1	USP3	15	63880966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14405	63880966	38650426	11056	34558											
HERC1	8925	broad.mit.edu	37	chr15	63904729	63904729	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcggcacaggaacaatccaGgacatcccttctcggactgc	11	6	10	14	2	1	0	0	0	1	0	4	3	3	3	2	4	3	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63904729G>T	ENST00000443617.2	-	77	14208	c.14121C>A	c.(14119-14121)tcC>tcA	p.S4707S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4707	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GAACAATCCAGGACATCCCTT	0.577													T	63904729	G	T	63904729	2	4	364	1	0	0	0	0	0	0	0	1	7112	987	35	4		4	HERC1	15	63904729	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23763	63904729	38626663	11057	34559											
HERC1	8925	broad.mit.edu	37	chr15	63922785	63922785	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaggacagggatttgttgCggtcgattgtgattgcgagc	7	11	16	7	3	0	1	0	1	0	0	1	5	0	3	1	3	3	1	1	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63922785C>T	ENST00000443617.2	-	69	12933	c.12846G>A	c.(12844-12846)ccG>ccA	p.P4282P		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4282					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity	p.P4282P(1)		NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GGATTTGTTGCGGTCGATTGT	0.473													T	63922785	C	T	63922785	2	4	364	1	0	0	0	0	0	0	0	1	7112	755	27	1		1	HERC1	15	63922785	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18056	63922785	38608607	11058	34560											
HERC1	8925	broad.mit.edu	37	chr15	63928207	63928207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgatctgcctgggccgccGctgcctgtcgctgttcccat	2	11	11	17	4	1	0	0	0	1	0	4	1	2	0	5	1	2	3	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63928207G>A	ENST00000443617.2	-	65	12454	c.12367C>T	c.(12367-12369)Cgg>Tgg	p.R4123W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4123					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTGGGCCGCCGCTGCCTGTCG	0.502													A	63928207	G	A	63928207	3	1	364	1	0	0	0	0	1	0	0	0	7112	1086	38	1	2274	1	HERC1	15	63928207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5422	63928207	38603185	11059	34561											
HERC1	8925	broad.mit.edu	37	chr15	63944624	63944624	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcactcacaatctgttgaaCacacaggtctgttgcagtga	12	10	9	10	0	3	2	1	2	2	0	3	2	3	2	0	1	3	4	0	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63944624C>T	ENST00000443617.2	-	52	10494	c.10407G>A	c.(10405-10407)gtG>gtA	p.V3469V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3469					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATCTGTTGAACACACAGGTCT	0.383													T	63944624	C	T	63944624	2	4	364	1	0	0	0	0	0	0	0	1	7112	465	17	2		2	HERC1	15	63944624	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16417	63944624	38586768	11060	34562											
HERC1	8925	broad.mit.edu	37	chr15	63946458	63946458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgagctgcccattgccGatgctgtgaggacagcctgg	6	10	14	11	1	0	2	0	2	0	0	0	4	0	3	3	2	6	3	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63946458G>A	ENST00000443617.2	-	51	10237	c.10150C>T	c.(10150-10152)Cgg>Tgg	p.R3384W		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3384					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCCCATTGCCGATGCTGTGAG	0.562													A	63946458	G	A	63946458	3	1	364	1	0	0	0	0	1	0	0	0	7112	1057	37	1	4547	1	HERC1	15	63946458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1834	63946458	38584934	11061	34563											
HERC1	8925	broad.mit.edu	37	chr15	63948395	63948395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagataggcttgttagccttGctatgcccacctcgtgatcg	7	12	11	11	2	0	2	0	1	0	1	2	3	0	2	3	1	3	3	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63948395G>A	ENST00000443617.2	-	49	9849	c.9762C>T	c.(9760-9762)agC>agT	p.S3254S		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3254					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TGTTAGCCTTGCTATGCCCAC	0.532													A	63948395	G	A	63948395	2	1	364	1	0	0	0	0	0	0	0	1	7112	1310	46	2		2	HERC1	15	63948395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1937	63948395	38582997	11062	34564											
HERC1	8925	broad.mit.edu	37	chr15	63956725	63956725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttgtgtcttcttgttaccGctgagcgacctctagctgat	6	15	9	11	2	3	2	0	2	3	0	3	3	3	2	2	0	3	3	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:63956725G>A	ENST00000443617.2	-	43	8711	c.8624C>T	c.(8623-8625)gCg>gTg	p.A2875V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2875					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						TCTTGTTACCGCTGAGCGACC	0.428													A	63956725	G	A	63956725	3	1	364	1	0	0	0	0	1	0	0	0	7112	1087	38	1	6105	1	HERC1	15	63956725	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8330	63956725	38574667	11063	34565											
HERC1	8925	broad.mit.edu	37	chr15	64041665	64041665	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactcactttctttggtttaGtaataggacctgtggaattt	9	17	8	7	0	2	0	1	0	1	0	2	2	2	2	1	3	0	2	1	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64041665G>T	ENST00000443617.2	-	10	2207	c.2120C>A	c.(2119-2121)aCt>aAt	p.T707N		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	707					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTTGGTTTAGTAATAGGACC	0.408													T	64041665	G	T	64041665	3	4	364	1	0	0	0	0	1	0	0	0	7112	1029	36	4	12741	4	HERC1	15	64041665	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84940	64041665	38489727	11064	34566											
DAPK2	23604	broad.mit.edu	37	chr15	64231494	64231494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctatttcgtgagccaGaccaaagtcaatcagcttga	12	12	7	10	1	4	3	2	2	2	1	5	3	4	3	2	0	2	1	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64231494G>T	ENST00000261891.3	-	4	525	c.520C>A	c.(520-522)Ctg>Atg	p.L174M	DAPK2_ENST00000558069.1_Missense_Mutation_p.L174M|DAPK2_ENST00000457488.1_Missense_Mutation_p.L174M|DAPK2_ENST00000558482.1_5'UTR			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	174	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		TCGTGAGCCAGACCAAAGTCA	0.368													T	64231494	G	T	64231494	3	4	364	1	0	0	0	0	1	0	0	0	4270	933	33	4	624	4	DAPK2	15	64231494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189829	64231494	38299898	11065	34567											
DAPK2	23604	broad.mit.edu	37	chr15	64275811	64275811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgtggtgcagcacctgccGcaggatgctcacctcccgct	6	9	11	15	2	1	0	1	0	0	0	2	1	2	1	4	2	4	5	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64275811G>A	ENST00000261891.3	-	2	240	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	DAPK2_ENST00000558069.1_Missense_Mutation_p.R79W|DAPK2_ENST00000457488.1_Missense_Mutation_p.R79W|DAPK2_ENST00000558482.1_5'UTR			Q9UIK4	DAPK2_HUMAN	death-associated protein kinase 2	79	Protein kinase.				apoptosis|induction of apoptosis|intracellular protein kinase cascade	cytoplasm	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	11				LUAD - Lung adenocarcinoma(2;0.215)		AGCACCTGCCGCAGGATGCTC	0.637													A	64275811	G	A	64275811	3	1	364	1	0	0	0	0	1	0	0	0	4270	1086	38	1	917	1	DAPK2	15	64275811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44317	64275811	38255581	11066	34568											
SNX1	6642	broad.mit.edu	37	chr15	64424038	64424038	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaggccaacaatgacttcTtcctccttgctgagctcctg	9	11	7	14	0	1	2	0	2	1	0	4	2	4	2	4	1	4	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64424038T>A	ENST00000353874.4	+	11	1204	c.1168T>A	c.(1168-1170)Ttc>Atc	p.F390I	SNX1_ENST00000561026.1_Missense_Mutation_p.F325I|SNX1_ENST00000560829.1_Missense_Mutation_p.F172I|SNX1_ENST00000559844.1_Missense_Mutation_p.F390I|SNX1_ENST00000559339.1_3'UTR|SNX1_ENST00000261889.5_Missense_Mutation_p.F390I			Q13596	SNX1_HUMAN	sorting nexin 1	390	BAR.				cell communication|early endosome to Golgi transport|endocytosis|intracellular protein transport	early endosome membrane|Golgi apparatus	phosphatidylinositol binding|protein binding|protein transporter activity			breast(1)|endometrium(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						CAATGACTTCTTCCTCCTTGC	0.512													A	64424038	T	A	64424038	3	1	364	1	0	0	0	0	1	0	0	0	14974	1609	56	5	1210	5	SNX1	15	64424038	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	148227	64424038	38107354	11067	34569											
KIAA0101	9768	broad.mit.edu	37	chr15	64658213	64658213	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggagacgttattcaaaGatgaatgagaaagttctatt	17	11	9	4	1	2	4	1	2	1	3	2	6	2	4	0	1	0	2	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64658213G>T	ENST00000380258.2	-	3	261	c.189C>A	c.(187-189)atC>atA	p.I63I	KIAA0101_ENST00000300035.4_3'UTR|CTD-2116N17.1_ENST00000606793.1_Intron|KIAA0101_ENST00000559519.1_3'UTR|CTD-2116N17.1_ENST00000558783.1_Intron|KIAA0101_ENST00000558008.1_3'UTR	NM_001029989.1	NP_001025160.1	Q15004	PAF_HUMAN	KIAA0101	0						mitochondrion|nucleus				central_nervous_system(1)|lung(1)|upper_aerodigestive_tract(1)	3						GTTATTCAAAGATGAATGAGA	0.328													T	64658213	G	T	64658213	2	4	364	1	0	0	0	0	0	0	0	1	8213	932	33	4		4	KIAA0101	15	64658213	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234175	64658213	37873179	11068	34570											
TRIP4	9325	broad.mit.edu	37	chr15	64687687	64687687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcctgcatttactgaacCtgacacgactgcagaggtta	11	11	9	10	1	0	3	0	2	0	1	1	4	1	3	2	1	4	4	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64687687C>A	ENST00000261884.3	+	3	422	c.362C>A	c.(361-363)cCt>cAt	p.P121H	TRIP4_ENST00000559565.1_3'UTR	NM_016213.4	NP_057297.2	Q15650	TRIP4_HUMAN	thyroid hormone receptor interactor 4	121					positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ligand-dependent nuclear receptor binding|transcription coactivator activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21						TTTACTGAACCTGACACGACT	0.413													A	64687687	C	A	64687687	3	1	364	1	0	0	0	0	1	0	0	0	16659	681	24	4	372	4	TRIP4	15	64687687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29474	64687687	37843705	11069	34571											
ZNF609	23060	broad.mit.edu	37	chr15	64791910	64791910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggagtaagagtggcaaaGacactagcaaacccactcca	18	4	9	10	0	0	2	0	0	0	2	1	3	1	3	2	2	2	3	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64791910G>T	ENST00000326648.3	+	1	420	c.292G>T	c.(292-294)Gac>Tac	p.D98Y	ZNF609_ENST00000416172.1_Missense_Mutation_p.D98Y	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	98						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAGTGGCAAAGACACTAGCAA	0.532													T	64791910	G	T	64791910	3	4	364	1	0	0	0	0	1	0	0	0	18136	942	33	4	294	4	ZNF609	15	64791910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104223	64791910	37739482	11070	34572											
ZNF609	23060	broad.mit.edu	37	chr15	64792015	64792015	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatggtgccaatgctggaGgcctggttgctgctattgct	6	12	15	8	0	0	1	0	0	0	1	0	3	0	2	2	4	5	5	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64792015G>T	ENST00000326648.3	+	1	525	c.397G>T	c.(397-399)Ggc>Tgc	p.G133C	ZNF609_ENST00000416172.1_Missense_Mutation_p.G133C	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	133						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAATGCTGGAGGCCTGGTTGC	0.567													T	64792015	G	T	64792015	3	4	364	1	0	0	0	0	1	0	0	0	18136	1000	35	4	399	4	ZNF609	15	64792015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105	64792015	37739377	11071	34573											
ZNF609	23060	broad.mit.edu	37	chr15	64967929	64967929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagttccagtcagcagccctCggtcatccagcagcgtccca	8	7	9	17	2	2	0	2	0	0	0	6	0	5	0	4	1	4	3	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64967929C>T	ENST00000326648.3	+	4	3004	c.2876C>T	c.(2875-2877)tCg>tTg	p.S959L		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	959						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CAGCAGCCCTCGGTCATCCAG	0.507													T	64967929	C	T	64967929	3	4	364	1	0	0	0	0	1	0	0	0	18136	893	31	1	2890	1	ZNF609	15	64967929	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175914	64967929	37563463	11072	34574											
OAZ2	4947	broad.mit.edu	37	chr15	64982604	64982604	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcagctaataatccatCtgggatttctacaaacaggc	13	10	6	12	0	3	0	1	0	2	0	4	1	4	1	2	2	3	1	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:64982604C>A	ENST00000326005.6	-	4	554	c.322G>T	c.(322-324)Gat>Tat	p.D108Y	OAZ2_ENST00000560837.1_5'UTR|OAZ2_ENST00000560258.2_Missense_Mutation_p.D108Y|OAZ2_ENST00000559753.1_5'UTR			O95190	OAZ2_HUMAN	ornithine decarboxylase antizyme 2	108					polyamine metabolic process|regulation of cellular amino acid metabolic process	cytosol|nucleus	ornithine decarboxylase inhibitor activity|protein binding									L-Ornithine(DB00129)	AATAATCCATCTGGGATTTCT	0.488													A	64982604	C	A	64982604	3	1	364	1	0	0	0	0	1	0	0	0	10881	913	32	4	259	4	OAZ2	15	64982604	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14675	64982604	37548788	11073	34575											
PIF1	80119	broad.mit.edu	37	chr15	65108796	65108796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgaggctcctgccccgccGcagggtggcatagaagtgca	8	6	14	13	2	0	2	0	1	0	1	1	2	1	2	4	3	2	4	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65108796G>A	ENST00000268043.4	-	12	1937	c.1843C>T	c.(1843-1845)Cgg>Tgg	p.R615W	PIF1_ENST00000559239.1_Missense_Mutation_p.R615W|PIF1_ENST00000333425.6_Missense_Mutation_p.R615W			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	615	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						CTGCCCCGCCGCAGGGTGGCA	0.672													A	65108796	G	A	65108796	3	1	364	1	0	0	0	0	1	0	0	0	11960	1086	38	1	90	1	PIF1	15	65108796	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126192	65108796	37422596	11074	34576											
PIF1	80119	broad.mit.edu	37	chr15	65114749	65114749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcctgttcctcagaaaGctgtggcttggtggagggca	8	9	15	9	0	1	1	1	0	0	1	2	2	2	2	2	4	3	5	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65114749G>A	ENST00000268043.4	-	3	713	c.619C>T	c.(619-621)Ctt>Ttt	p.L207F	PIF1_ENST00000559239.1_Missense_Mutation_p.L207F|PIF1_ENST00000333425.6_Missense_Mutation_p.L207F			Q9H611	PIF1_HUMAN	PIF1 5'-to-3' DNA helicase	207	Hydrolyzes ATP in the presence of both magnesium and single-stranded DNA; weak activity in the presence of RNA or double-stranded DNA; No unwinding activity.				negative regulation of telomerase activity|regulation of telomere maintenance|viral genome replication	nuclear chromosome, telomeric region	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' DNA/RNA helicase activity|magnesium ion binding|single-stranded DNA-dependent ATP-dependent DNA helicase activity|telomeric DNA binding			kidney(1)|lung(1)	2						TCCTCAGAAAGCTGTGGCTTG	0.622													A	65114749	G	A	65114749	3	1	364	1	0	0	0	0	1	0	0	0	11960	971	34	2	1350	2	PIF1	15	65114749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5953	65114749	37416643	11075	34577											
ANKDD1A	348094	broad.mit.edu	37	chr15	65218321	65218321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccatgtgcctgtgctggcGttcataatggaggacctgga	7	10	15	9	1	1	0	1	0	0	0	1	3	1	3	3	5	2	2	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65218321G>A	ENST00000380230.3	+	5	452	c.423G>A	c.(421-423)gcG>gcA	p.A141A	ANKDD1A_ENST00000395723.1_Silent_p.A50A|ANKDD1A_ENST00000395720.1_Silent_p.A141A|ANKDD1A_ENST00000496660.1_Silent_p.A50A|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|AC069368.3_ENST00000437723.1_Intron|ANKDD1A_ENST00000357698.3_Silent_p.A141A	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	141					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						CTGTGCTGGCGTTCATAATGG	0.592													A	65218321	G	A	65218321	2	1	364	1	0	0	0	0	0	0	0	1	624	1132	40	1		1	ANKDD1A	15	65218321	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103572	65218321	37313071	11076	34578											
ANKDD1A	348094	broad.mit.edu	37	chr15	65223741	65223741	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccaccctgactgtgtgcaGctcctcctcagggctgggag	5	9	12	15	0	1	1	1	1	0	0	4	2	4	2	4	2	2	3	4	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65223741G>T	ENST00000380230.3	+	8	755	c.726G>T	c.(724-726)caG>caT	p.Q242H	ANKDD1A_ENST00000395723.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000395720.1_Missense_Mutation_p.Q242H|ANKDD1A_ENST00000496660.1_Missense_Mutation_p.Q151H|ANKDD1A_ENST00000491145.1_3'UTR|ANKDD1A_ENST00000319580.8_3'UTR|ANKDD1A_ENST00000357698.3_Missense_Mutation_p.Q242H	NM_182703.3	NP_874362.3	Q495B1	AKD1A_HUMAN	ankyrin repeat and death domain containing 1A	242					signal transduction					NS(1)|endometrium(1)|large_intestine(10)|liver(2)|lung(4)|ovary(1)|prostate(2)	21						ACTGTGTGCAGCTCCTCCTCA	0.622													T	65223741	G	T	65223741	3	4	364	1	0	0	0	0	1	0	0	0	624	962	34	4	756	4	ANKDD1A	15	65223741	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5420	65223741	37307651	11077	34579											
SPG21	51324	broad.mit.edu	37	chr15	65275859	65275859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatacctttttaaggggaaCtgtacctctaaaccagttat	13	13	6	9	0	1	0	0	0	1	0	1	1	1	1	3	2	4	2	3	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65275859C>T	ENST00000204566.2	-	2	344	c.49G>A	c.(49-51)Gtt>Att	p.V17I	SPG21_ENST00000560564.1_Intron|SPG21_ENST00000416889.2_Missense_Mutation_p.V17I|SPG21_ENST00000433215.2_Missense_Mutation_p.V17I	NM_016630.3	NP_057714.1	Q9NZD8	SPG21_HUMAN	spastic paraplegia 21 (autosomal recessive, Mast syndrome)	17					cell death	cytosol|endosome membrane|trans-Golgi network transport vesicle	CD4 receptor binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|urinary_tract(1)	10						TTAAGGGGAACTGTACCTCTA	0.333													T	65275859	C	T	65275859	3	4	364	1	0	0	0	0	1	0	0	0	15139	565	20	2	909	2	SPG21	15	65275859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52118	65275859	37255533	11078	34580											
MTFMT	123263	broad.mit.edu	37	chr15	65308798	65308798	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaatggcacggtaaagTctgaatatttgttctgaagt	11	15	9	6	1	2	2	0	2	2	0	3	2	3	2	1	2	0	3	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65308798T>G	ENST00000220058.4	-	6	802	c.789A>C	c.(787-789)agA>agC	p.R263S		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	263						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACGGTAAAGTCTGAATATTT	0.348													G	65308798	T	G	65308798	3	3	364	1	0	0	0	0	1	0	0	0	10000	1664	58	5	396	5	MTFMT	15	65308798	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32939	65308798	37222594	11079	34581											
CLPX	10845	broad.mit.edu	37	chr15	65472481	65472481	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaggagctctttgcagaatCtgagtttcaaatgtcccaag	12	11	10	8	0	3	3	1	1	2	2	4	4	4	4	1	1	2	3	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472481C>T	ENST00000300107.3	-	2	329	c.141G>A	c.(139-141)caG>caA	p.Q47Q		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	47					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						TTTGCAGAATCTGAGTTTCAA	0.383													T	65472481	C	T	65472481	2	4	364	1	0	0	0	0	0	0	0	1	3587	912	32	2		2	CLPX	15	65472481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163683	65472481	37058911	11080	34582											
CLPX	10845	broad.mit.edu	37	chr15	65472527	65472527	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaactgacatatgaatgCgaccaccagaaatacctgaa	18	7	6	10	1	0	4	0	3	0	1	0	5	0	4	3	0	3	0	3	0	7	3	rs142954778	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65472527C>T	ENST00000300107.3	-	2	283	c.95G>A	c.(94-96)cGc>cAc	p.R32H		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	32					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CATATGAATGCGACCACCAGA	0.388													T	65472527	C	T	65472527	3	4	364	1	0	0	0	0	1	0	0	0	3587	768	27	1	1858	1	CLPX	15	65472527	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46	65472527	37058865	11081	34583											
PARP16	54956	broad.mit.edu	37	chr15	65553256	65553256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgaatacaccaggaggTacttcactcgcagcagctgg	10	9	11	11	1	2	1	1	1	1	0	3	2	2	2	1	3	4	4	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65553256T>C	ENST00000261888.6	-	5	1245	c.800A>G	c.(799-801)tAc>tGc	p.Y267C	PARP16_ENST00000444347.2_Missense_Mutation_p.Y152C	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	267	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						CACCAGGAGGTACTTCACTCG	0.483													C	65553256	T	C	65553256	3	2	364	1	0	0	0	0	1	0	0	0	11536	1638	57	3	179	3	PARP16	15	65553256	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80729	65553256	36978136	11082	34584											
PARP16	54956	broad.mit.edu	37	chr15	65558947	65558947	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggataatggaatggaagtTttctaggcggctaccatgaa	12	11	13	5	1	1	1	0	1	1	0	1	4	1	4	1	5	1	2	1	5	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65558947T>G	ENST00000261888.6	-	3	917	c.472A>C	c.(472-474)Aac>Cac	p.N158H	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	158	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						GAATGGAAGTTTTCTAGGCGG	0.493													G	65558947	T	G	65558947	3	3	364	1	0	0	0	0	1	0	0	0	11536	1841	64	5	515	5	PARP16	15	65558947	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5691	65558947	36972445	11083	34585											
IGDCC3	9543	broad.mit.edu	37	chr15	65621802	65621802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctccttcatatccacacGtttctcgtctcggcccagct	6	12	6	17	3	3	0	1	0	2	0	7	0	5	0	3	1	2	3	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65621802G>A	ENST00000327987.4	-	13	2382	c.2131C>T	c.(2131-2133)Cgt>Tgt	p.R711C		NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	711								p.R711C(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						ATATCCACACGTTTCTCGTCT	0.652													A	65621802	G	A	65621802	3	1	364	1	0	0	0	0	1	0	0	0	7626	1145	40	1	321	1	IGDCC3	15	65621802	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62855	65621802	36909590	11084	34586											
IGDCC3	9543	broad.mit.edu	37	chr15	65625621	65625621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccagccggccctgtgccGttctcctcacccgggtgcca	4	7	10	20	3	2	0	1	0	1	0	3	0	2	0	8	2	3	1	8	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65625621G>A	ENST00000327987.4	-	6	1207	c.956C>T	c.(955-957)aCg>aTg	p.T319M	IGDCC3_ENST00000559231.1_5'UTR	NM_004884.3	NP_004875.2	Q8IVU1	IGDC3_HUMAN	immunoglobulin superfamily, DCC subclass, member 3	319	Ig-like C2-type 3.									breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(9)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCTGTGCCGTTCTCCTCAC	0.637													A	65625621	G	A	65625621	3	1	364	1	0	0	0	0	1	0	0	0	7626	1145	40	1	1524	1	IGDCC3	15	65625621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3819	65625621	36905771	11085	34587											
DPP8	54878	broad.mit.edu	37	chr15	65739321	65739321	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgattcaggaactcttatGctgtgtctctcctgaggata	8	13	9	11	1	3	1	1	1	2	0	5	4	4	3	2	2	2	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65739321G>A	ENST00000341861.5	-	20	4178	c.2598C>T	c.(2596-2598)agC>agT	p.S866S	DPP8_ENST00000321147.6_Silent_p.S815S|DPP8_ENST00000559233.1_Silent_p.S866S|DPP8_ENST00000358939.4_Silent_p.S750S|DPP8_ENST00000300141.6_Silent_p.S850S|DPP8_ENST00000321118.7_Silent_p.S817S|DPP8_ENST00000339244.5_Silent_p.S693S	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	866					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GAACTCTTATGCTGTGTCTCT	0.343													A	65739321	G	A	65739321	2	1	364	1	0	0	0	0	0	0	0	1	4771	1310	46	2		2	DPP8	15	65739321	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113700	65739321	36792071	11086	34588											
DPP8	54878	broad.mit.edu	37	chr15	65759506	65759506	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtacaggtgatgctctaaaGgggagtctttggtgccttca	8	12	13	8	1	3	1	1	1	2	0	3	2	3	2	1	4	3	2	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65759506G>T	ENST00000341861.5	-	13	3220	c.1640C>A	c.(1639-1641)cCt>cAt	p.P547H	DPP8_ENST00000321147.6_Missense_Mutation_p.P547H|DPP8_ENST00000559233.1_Missense_Mutation_p.P547H|DPP8_ENST00000358939.4_Missense_Mutation_p.P531H|DPP8_ENST00000300141.6_Missense_Mutation_p.P531H|DPP8_ENST00000321118.7_Missense_Mutation_p.P547H|DPP8_ENST00000339244.5_Missense_Mutation_p.P374H	NM_197960.2	NP_932064.1	Q6V1X1	DPP8_HUMAN	dipeptidyl-peptidase 8	547					immune response|proteolysis	cytoplasm|membrane|nucleus	aminopeptidase activity|dipeptidyl-peptidase activity|serine-type peptidase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(11)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATGCTCTAAAGGGGAGTCTTT	0.443													T	65759506	G	T	65759506	3	4	364	1	0	0	0	0	1	0	0	0	4771	1000	35	4	1088	4	DPP8	15	65759506	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20185	65759506	36771886	11087	34589											
DENND4A	10260	broad.mit.edu	37	chr15	65959878	65959879	+	Frame_Shift_Ins	INS	-	-	A																															gaaataccataccaggttccINSaaaaaacaattggatgatgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65959878_65959879insA	ENST00000443035.3	-	29	5361_5362	c.5146_5147insT	c.(5146-5148)tggfs	p.W1716fs	DENND4A_ENST00000431932.2_Frame_Shift_Ins_p.W1673fs	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1673					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						TACCAGGTTCCAAAAAACAATT	0.386													A	65959879	-	A	65959878	7	5	364	1	0	1	1	0	0	0	0	0	4472	595	21	0	593	0	DENND4A	15	65959878	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	200372	65959878	36571514	11088	34590											
DENND4A	10260	broad.mit.edu	37	chr15	65960372	65960372	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatactcctggccattggaAatattggacatttagacata	14	13	7	7	0	0	1	0	0	0	1	1	3	1	3	2	3	1	0	2	3	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:65960372A>C	ENST00000443035.3	-	28	5089	c.4874T>G	c.(4873-4875)tTt>tGt	p.F1625C	DENND4A_ENST00000431932.2_Missense_Mutation_p.F1582C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1582					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						GGCCATTGGAAATATTGGACA	0.413													C	65960372	A	C	65960372	3	2	364	1	0	0	0	0	1	0	0	0	4472	14	1	5	870	5	DENND4A	15	65960372	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	494	65960372	36571020	11089	34591											
DENND4A	10260	broad.mit.edu	37	chr15	66031164	66031164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaatagaggaacagattcCggtagtgagaatgactcata	17	8	10	6	1	1	4	1	2	0	3	2	6	2	5	1	2	1	1	1	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66031164C>T	ENST00000443035.3	-	6	896	c.681G>A	c.(679-681)ccG>ccA	p.P227P	DENND4A_ENST00000431932.2_Silent_p.P227P	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	227	UDENN.				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						GAACAGATTCCGGTAGTGAGA	0.338													T	66031164	C	T	66031164	2	4	364	1	0	0	0	0	0	0	0	1	4472	639	23	1		1	DENND4A	15	66031164	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70792	66031164	36500228	11090	34592											
MEGF11	84465	broad.mit.edu	37	chr15	66190420	66190420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaaccttcttggaccacaCtgactgtgggctctaagaaa	11	9	9	12	1	2	2	0	1	2	1	2	3	2	3	2	2	1	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66190420C>T	ENST00000409699.2	-	23	3159	c.2987G>A	c.(2986-2988)aGt>aAt	p.S996N	MEGF11_ENST00000288745.3_Missense_Mutation_p.S921N|MEGF11_ENST00000422354.1_Missense_Mutation_p.S996N|MEGF11_ENST00000395625.2_Missense_Mutation_p.S921N|MEGF11_ENST00000360698.4_3'UTR			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	996						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TTGGACCACACTGACTGTGGG	0.448													T	66190420	C	T	66190420	3	4	364	1	0	0	0	0	1	0	0	0	9536	565	20	2	151	2	MEGF11	15	66190420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159256	66190420	36340972	11091	34593											
LCTL	197021	broad.mit.edu	37	chr15	66845562	66845562	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgagaacaccggtaacctCgacatctccaggccttgctc	10	8	9	14	2	1	1	0	1	1	1	4	3	1	1	4	2	3	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66845562C>T	ENST00000341509.5	-	9	1088	c.957G>A	c.(955-957)tcG>tcA	p.S319S	LCTL_ENST00000537670.1_Silent_p.S146S	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	319					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCGGTAACCTCGACATCTCCA	0.423													T	66845562	C	T	66845562	2	4	364	1	0	0	0	0	0	0	0	1	8753	871	31	1		1	LCTL	15	66845562	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	655142	66845562	35685830	11092	34594											
LCTL	197021	broad.mit.edu	37	chr15	66855883	66855883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccagtggtgcaaggtcaCgatgggagtgatgttgctgc	8	10	15	8	1	1	1	1	1	0	0	2	3	2	2	1	3	3	3	1	3	1	1	rs142935775		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:66855883C>T	ENST00000341509.5	-	4	582	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	LCTL_ENST00000537670.1_De_novo_Start_InFrame	NM_207338.2	NP_997221.2	Q6UWM7	LCTL_HUMAN	lactase-like	151					carbohydrate metabolic process	endoplasmic reticulum membrane|integral to membrane	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGCAAGGTCACGATGGGAGTG	0.527													T	66855883	C	T	66855883	3	4	364	1	0	0	0	0	1	0	0	0	8753	536	19	1	1292	1	LCTL	15	66855883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10321	66855883	35675509	11093	34595											
SMAD3	4088	broad.mit.edu	37	chr15	67473662	67473662	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagcgcgtcggggagacaTtccacgcctcgcagccatcc	8	5	11	17	5	0	1	0	0	0	1	4	2	2	1	5	2	2	1	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67473662T>G	ENST00000327367.4	+	6	1052	c.742T>G	c.(742-744)Ttc>Gtc	p.F248V	SMAD3_ENST00000540846.2_Missense_Mutation_p.F143V|SMAD3_ENST00000537194.2_Missense_Mutation_p.F53V|SMAD3_ENST00000439724.3_Missense_Mutation_p.F204V	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	248	MH2.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		CGGGGAGACATTCCACGCCTC	0.602													G	67473662	T	G	67473662	3	3	364	1	0	0	0	0	1	0	0	0	14853	1493	52	5	842	5	SMAD3	15	67473662	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	617779	67473662	35057730	11094	34596											
SMAD3	4088	broad.mit.edu	37	chr15	67477152	67477152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtccagtctcccaactGtaaccagcgctatggctggc	7	12	9	13	1	1	0	0	0	1	0	3	0	2	0	3	2	3	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67477152G>A	ENST00000327367.4	+	7	1269	c.959G>A	c.(958-960)tGt>tAt	p.C320Y	SMAD3_ENST00000540846.2_Missense_Mutation_p.C215Y|SMAD3_ENST00000537194.2_Missense_Mutation_p.C125Y|SMAD3_ENST00000439724.3_Missense_Mutation_p.C276Y	NM_005902.3	NP_005893.1	P84022	SMAD3_HUMAN	SMAD family member 3	320	MH2.|Sufficient for interaction with XPO4.				activation of caspase activity|cell cycle arrest|cell-cell junction organization|evasion of host defenses by virus|immune response|induction of apoptosis|negative regulation of cell growth|negative regulation of mitotic cell cycle|negative regulation of protein catabolic process|negative regulation of protein phosphorylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of catenin import into nucleus|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|protein stabilization|regulation of transforming growth factor beta receptor signaling pathway|regulation of transforming growth factor-beta2 production|response to hypoxia|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|transport|wound healing	cytosol|nuclear inner membrane|receptor complex	beta-catenin binding|co-SMAD binding|metal ion binding|protein homodimerization activity|protein kinase binding|R-SMAD binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor binding|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(11)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(7;0.125)		TCTCCCAACTGTAACCAGCGC	0.592													A	67477152	G	A	67477152	3	1	364	1	0	0	0	0	1	0	0	0	14853	1377	48	2	1063	2	SMAD3	15	67477152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3490	67477152	35054240	11095	34597											
IQCH	64799	broad.mit.edu	37	chr15	67664560	67664560	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacttcttagcattcaagGaacattttagcttagcttgg	11	14	8	8	0	2	1	1	0	1	1	2	2	2	2	0	2	4	3	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67664560G>T	ENST00000335894.4	+	9	931	c.865G>T	c.(865-867)Gaa>Taa	p.E289*	IQCH_ENST00000358767.3_Nonsense_Mutation_p.E116*|IQCH_ENST00000546225.1_Nonsense_Mutation_p.E37*|IQCH_ENST00000360277.4_Nonsense_Mutation_p.E41*	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	289										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		AGCATTCAAGGAACATTTTAG	0.388													T	67664560	G	T	67664560	4	4	364	1	0	0	0	0	0	1	0	0	7869	1175	41	4	1027	4	IQCH	15	67664560	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187408	67664560	34866832	11096	34598											
MAP2K5	5607	broad.mit.edu	37	chr15	67985893	67985893	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagacgtatgttggaacaaAtgcttatatggcggtaagta	14	11	11	5	2	0	1	0	0	0	1	0	2	0	2	0	3	2	5	0	3	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:67985893A>C	ENST00000178640.5	+	15	1586	c.959A>C	c.(958-960)aAt>aCt	p.N320T	MAP2K5_ENST00000354498.5_Missense_Mutation_p.N284T|MAP2K5_ENST00000395476.2_Missense_Mutation_p.N320T|MAP2K5_ENST00000340972.4_Missense_Mutation_p.N130T	NM_145160.2	NP_660143.1	Q13163	MP2K5_HUMAN	mitogen-activated protein kinase kinase 5	320	Protein kinase.				nerve growth factor receptor signaling pathway		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|skin(1)	16						GTTGGAACAAATGCTTATATG	0.294													C	67985893	A	C	67985893	3	2	364	1	0	0	0	0	1	0	0	0	9315	101	4	5	1017	5	MAP2K5	15	67985893	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	321333	67985893	34545499	11097	34599											
PIAS1	8554	broad.mit.edu	37	chr15	68378743	68378743	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaacttctcacaaaagccCtgcatttgctaaaggctggc	12	9	8	12	1	1	0	1	0	1	0	2	1	1	0	1	2	4	3	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68378743C>A	ENST00000545237.1	+	3	871	c.130C>A	c.(130-132)Ctg>Atg	p.L44M	PIAS1_ENST00000249636.6_Missense_Mutation_p.L42M			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	42	SAP.				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						CACAAAAGCCCTGCATTTGCT	0.483													A	68378743	C	A	68378743	3	1	364	1	0	0	0	0	1	0	0	0	11952	680	24	4	130	4	PIAS1	15	68378743	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392850	68378743	34152649	11098	34600											
PIAS1	8554	broad.mit.edu	37	chr15	68468894	68468894	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaaagtagaagtgattgaCctaaccatagacagttcatc	17	9	8	7	0	1	5	1	2	0	3	2	5	1	5	2	0	1	2	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68468894C>T	ENST00000545237.1	+	12	2130	c.1389C>T	c.(1387-1389)gaC>gaT	p.D463D	PIAS1_ENST00000567417.1_3'UTR|PIAS1_ENST00000249636.6_Silent_p.D461D			O75925	PIAS1_HUMAN	protein inhibitor of activated STAT, 1	461	SUMO1-binding (By similarity).				androgen receptor signaling pathway|interferon-gamma-mediated signaling pathway|JAK-STAT cascade|positive regulation of protein sumoylation|positive regulation of transcription, DNA-dependent|regulation of interferon-gamma-mediated signaling pathway|transcription, DNA-dependent	nuclear speck	androgen receptor binding|DNA binding|enzyme binding|SUMO ligase activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)	24						AAGTGATTGACCTAACCATAG	0.433													T	68468894	C	T	68468894	2	4	364	1	0	0	0	0	0	0	0	1	11952	506	18	2		2	PIAS1	15	68468894	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90151	68468894	34062498	11099	34601											
FEM1B	10116	broad.mit.edu	37	chr15	68583125	68583125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctacaacctgattcacCttgatcccagaactcgtgaa	13	10	6	12	1	2	5	1	3	1	2	4	5	3	5	3	0	3	0	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:68583125C>A	ENST00000306917.4	+	2	2044	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I		NM_015322.4	NP_056137.1	Q9UK73	FEM1B_HUMAN	fem-1 homolog b (C. elegans)	477					apoptosis|induction of apoptosis|regulation of DNA damage checkpoint|regulation of ubiquitin-protein ligase activity	cytoplasm|nucleus	death receptor binding|ubiquitin-protein ligase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						CCTGATTCACCTTGATCCCAG	0.433													A	68583125	C	A	68583125	3	1	364	1	0	0	0	0	1	0	0	0	5859	681	24	4	1435	4	FEM1B	15	68583125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114231	68583125	33948267	11100	34602											
CORO2B	10391	broad.mit.edu	37	chr15	69003117	69003117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgaagcggaacatgaCggaggcgctcctggagctgc	8	5	17	11	4	0	2	0	2	0	0	1	5	1	5	1	5	4	3	1	5	2	0	rs144874326		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69003117C>T	ENST00000543950.1	+	4	719	c.365C>T	c.(364-366)aCg>aTg	p.T122M	CORO2B_ENST00000566799.1_Missense_Mutation_p.T127M|CORO2B_ENST00000261861.5_Missense_Mutation_p.T122M|CORO2B_ENST00000540068.1_Missense_Mutation_p.T122M	NM_001190457.1	NP_001177386.1	Q9UQ03	COR2B_HUMAN	coronin, actin binding protein, 2B	127					actin cytoskeleton organization	actin cytoskeleton|cytoplasm|membrane	actin filament binding			kidney(3)|large_intestine(13)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CGGAACATGACGGAGGCGCTC	0.657													T	69003117	C	T	69003117	3	4	364	1	0	0	0	0	1	0	0	0	3788	536	19	1	394	1	CORO2B	15	69003117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	419992	69003117	33528275	11101	34603											
SPESP1	246777	broad.mit.edu	37	chr15	69238356	69238356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaactgaggcaccaagaatGttgccagttgttactgaatc	13	10	9	9	0	0	3	0	2	0	1	1	3	0	3	2	1	3	4	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69238356G>T	ENST00000310673.3	+	2	637	c.483G>T	c.(481-483)atG>atT	p.M161I	NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|RP11-809H16.2_ENST00000557966.1_RNA|NOX5_ENST00000260364.5_Intron|SPESP1_ENST00000560188.1_3'UTR	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	161					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACCAAGAATGTTGCCAGTTG	0.438													T	69238356	G	T	69238356	3	4	364	1	0	0	0	0	1	0	0	0	15136	1377	48	4	489	4	SPESP1	15	69238356	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	235239	69238356	33293036	11102	34604											
NOX5	79400	broad.mit.edu	37	chr15	69329520	69329520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcatggcagccgtgtgCatcatggaagtcaacctcct	8	9	10	14	2	2	0	2	0	0	0	4	1	4	1	4	2	3	3	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69329520C>T	ENST00000260364.5	+	9	1588	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	NOX5_ENST00000455873.3_Silent_p.C412C|NOX5_ENST00000448182.3_Silent_p.C401C|NOX5_ENST00000388866.3_Silent_p.C447C|NOX5_ENST00000530406.2_Silent_p.C419C			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	447	Ferric oxidoreductase.				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CAGCCGTGTGCATCATGGAAG	0.577													T	69329520	C	T	69329520	2	4	364	1	0	0	0	0	0	0	0	1	10635	718	25	2		2	NOX5	15	69329520	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91164	69329520	33201872	11103	34605											
KIF23	9493	broad.mit.edu	37	chr15	69732275	69732275	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaaacaactactatctaTgaggaagataaacgcaattt	19	9	7	6	1	1	3	0	1	1	2	1	5	1	4	0	1	4	1	0	1	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69732275T>C	ENST00000260363.4	+	16	1863	c.1746T>C	c.(1744-1746)taT>taC	p.Y582Y	KIF23_ENST00000352331.4_Silent_p.Y582Y|KIF23_ENST00000395392.2_Silent_p.Y582Y|KIF23_ENST00000558585.1_Silent_p.Y399Y|KIF23_ENST00000559279.1_Silent_p.Y582Y|KIF23_ENST00000537891.1_Silent_p.Y399Y	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	582					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						CTACTATCTATGAGGAAGATA	0.358													C	69732275	T	C	69732275	2	2	364	1	0	0	0	0	0	0	0	1	8349	1471	51	3		3	KIF23	15	69732275	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	402755	69732275	32799117	11104	34606											
KIF23	9493	broad.mit.edu	37	chr15	69733243	69733243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggagcagaaaattcctaCgtacaacacacctctcaaag	16	7	7	11	1	1	1	1	0	1	1	3	2	2	2	2	1	4	2	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:69733243C>T	ENST00000260363.4	+	18	2321	c.2204C>T	c.(2203-2205)aCg>aTg	p.T735M	KIF23_ENST00000352331.4_Intron|KIF23_ENST00000395392.2_Missense_Mutation_p.T735M|KIF23_ENST00000558585.1_Intron|KIF23_ENST00000559279.1_Intron|KIF23_ENST00000537891.1_Intron	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	735					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						AAAATTCCTACGTACAACACA	0.493													T	69733243	C	T	69733243	3	4	364	1	0	0	0	0	1	0	0	0	8349	536	19	1	2274	1	KIF23	15	69733243	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	968	69733243	32798149	11105	34607											
TLE3	7090	broad.mit.edu	37	chr15	70347546	70347546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtgttgatctgccgggCgtgcctcgggatgccggggc	3	9	19	10	4	1	1	0	1	1	0	2	3	1	2	3	4	3	1	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70347546C>T	ENST00000558939.1	-	15	2806	c.1429G>A	c.(1429-1431)Gcc>Acc	p.A477T	TLE3_ENST00000557907.1_Missense_Mutation_p.A469T|TLE3_ENST00000557997.1_Missense_Mutation_p.A469T|TLE3_ENST00000559929.1_Missense_Mutation_p.A487T|TLE3_ENST00000442299.2_Missense_Mutation_p.A469T|TLE3_ENST00000560939.1_Missense_Mutation_p.A479T|TLE3_ENST00000317509.8_Missense_Mutation_p.A465T|TLE3_ENST00000558201.1_Missense_Mutation_p.A483T|TLE3_ENST00000440567.3_Missense_Mutation_p.A467T|TLE3_ENST00000539550.1_Missense_Mutation_p.A404T|TLE3_ENST00000559191.1_Missense_Mutation_p.A58T|TLE3_ENST00000559048.1_Missense_Mutation_p.A477T|TLE3_ENST00000558379.1_Missense_Mutation_p.A472T|TLE3_ENST00000451782.2_Missense_Mutation_p.A474T|TLE3_ENST00000560589.1_Missense_Mutation_p.A421T	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	477					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding	p.A477T(2)		breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATCTGCCGGGCGTGCCTCGGG	0.642													T	70347546	C	T	70347546	3	4	364	1	0	0	0	0	1	0	0	0	16040	768	27	1	913	1	TLE3	15	70347546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	614303	70347546	32183846	11106	34608											
TLE3	7090	broad.mit.edu	37	chr15	70350628	70350628	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggggtggaggatttgtcGttctgaagaggggagatgca	9	9	18	5	1	1	3	0	1	1	2	2	6	1	5	1	6	1	2	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70350628G>A	ENST00000558939.1	-	12	2298	c.921C>T	c.(919-921)aaC>aaT	p.N307N	TLE3_ENST00000557907.1_Silent_p.N307N|TLE3_ENST00000557997.1_Silent_p.N307N|TLE3_ENST00000559929.1_Silent_p.N317N|TLE3_ENST00000442299.2_Silent_p.N307N|TLE3_ENST00000560939.1_Silent_p.N312N|TLE3_ENST00000317509.8_Silent_p.N307N|TLE3_ENST00000558201.1_Silent_p.N313N|TLE3_ENST00000440567.3_Silent_p.N300N|TLE3_ENST00000539550.1_Silent_p.N251N|TLE3_ENST00000559191.1_Intron|TLE3_ENST00000559048.1_Silent_p.N312N|TLE3_ENST00000558379.1_Silent_p.N307N|TLE3_ENST00000451782.2_Silent_p.N307N|TLE3_ENST00000560589.1_Silent_p.N251N	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	307	Pro/Ser-rich.				organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGATTTGTCGTTCTGAAGAG	0.617													A	70350628	G	A	70350628	2	1	364	1	0	0	0	0	0	0	0	1	16040	1136	40	1		1	TLE3	15	70350628	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3082	70350628	32180764	11107	34609											
UACA	55075	broad.mit.edu	37	chr15	70959353	70959353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatatttagacaagtcaaCtacctctctagtctctaatt	12	17	3	9	0	3	1	1	0	2	1	5	1	3	1	1	0	2	0	1	0	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70959353C>T	ENST00000322954.6	-	16	3855	c.3670G>A	c.(3670-3672)Gtt>Att	p.V1224I	UACA_ENST00000539319.1_Missense_Mutation_p.V1115I|UACA_ENST00000379983.2_Missense_Mutation_p.V1211I|UACA_ENST00000560441.1_Missense_Mutation_p.V1209I	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	1224						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GACAAGTCAACTACCTCTCTA	0.338													T	70959353	C	T	70959353	3	4	364	1	0	0	0	0	1	0	0	0	16926	565	20	2	596	2	UACA	15	70959353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	608725	70959353	31572039	11108	34610											
UACA	55075	broad.mit.edu	37	chr15	70960101	70960101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcattcttgtattgtgtcGagctccttcttctgggcttt	4	19	9	9	1	3	0	0	0	3	0	5	1	4	0	1	1	2	4	1	1	1	7	rs149154885		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70960101G>A	ENST00000322954.6	-	16	3107	c.2922C>T	c.(2920-2922)ctC>ctT	p.L974L	UACA_ENST00000539319.1_Silent_p.L865L|UACA_ENST00000379983.2_Silent_p.L961L|UACA_ENST00000560441.1_Silent_p.L959L	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	974						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GTATTGTGTCGAGCTCCTTCT	0.418													A	70960101	G	A	70960101	2	1	364	1	0	0	0	0	0	0	0	1	16926	1045	37	1		1	UACA	15	70960101	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	748	70960101	31571291	11109	34611											
UACA	55075	broad.mit.edu	37	chr15	70969450	70969450	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataaaatgtcaccctacctcGctttccagatcatcagcaac	13	10	4	14	1	3	1	3	0	0	1	5	1	4	1	3	0	3	2	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:70969450G>A	ENST00000322954.6	-	12	1214	c.1029C>T	c.(1027-1029)agC>agT	p.S343S	UACA_ENST00000539319.1_Silent_p.S234S|UACA_ENST00000379983.2_Silent_p.S330S|UACA_ENST00000560441.1_Silent_p.S330S	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	343						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						ACCCTACCTCGCTTTCCAGAT	0.303													A	70969450	G	A	70969450	2	1	364	1	0	0	0	0	0	0	0	1	16926	1078	38	1		1	UACA	15	70969450	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9349	70969450	31561942	11110	34612											
LARP6	55323	broad.mit.edu	37	chr15	71125092	71125092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgaactccacgatggCgcactcctgggtccccactt	6	9	8	18	3	0	0	0	0	0	0	5	2	4	0	5	2	1	1	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125092C>T	ENST00000299213.8	-	3	845	c.775G>A	c.(775-777)Gcc>Acc	p.A259T		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	259					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						TCCACGATGGCGCACTCCTGG	0.557													T	71125092	C	T	71125092	3	4	364	1	0	0	0	0	1	0	0	0	8691	768	27	1	704	1	LARP6	15	71125092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	155642	71125092	31406300	11111	34613											
LARP6	55323	broad.mit.edu	37	chr15	71125303	71125303	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacaagtagagatcataGaccaggagcatcttgctggg	13	7	14	7	0	2	3	1	0	1	3	2	6	2	4	1	3	2	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71125303G>T	ENST00000299213.8	-	3	634	c.564C>A	c.(562-564)gtC>gtA	p.V188V		NM_018357.2	NP_060827.2	Q9BRS8	LARP6_HUMAN	La ribonucleoprotein domain family, member 6	188					RNA processing	Golgi apparatus|nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	19						AGAGATCATAGACCAGGAGCA	0.557													T	71125303	G	T	71125303	2	4	364	1	0	0	0	0	0	0	0	1	8691	929	33	4		4	LARP6	15	71125303	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	211	71125303	31406089	11112	34614											
LRRC49	54839	broad.mit.edu	37	chr15	71188217	71188217	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctaaataaagacacatcGtcattccccggtagactttt	14	11	6	10	2	1	2	1	0	0	2	3	2	2	2	2	1	1	2	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71188217G>A	ENST00000260382.5	+	3	395	c.135G>A	c.(133-135)tcG>tcA	p.S45S	LRRC49_ENST00000544974.2_Silent_p.S35S|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Silent_p.S50S|LRRC49_ENST00000560691.1_5'UTR|LRRC49_ENST00000443425.2_5'UTR	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	45						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						AAGACACATCGTCATTCCCCG	0.323													A	71188217	G	A	71188217	2	1	364	1	0	0	0	0	0	0	0	1	9076	1132	40	1		1	LRRC49	15	71188217	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62914	71188217	31343175	11113	34615											
LRRC49	54839	broad.mit.edu	37	chr15	71272511	71272511	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcgggaaagtcataaacaAtctttgcttaaggtattttc	14	13	8	6	1	2	0	1	0	1	0	3	1	2	1	0	2	3	2	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71272511A>C	ENST00000260382.5	+	10	1253	c.993A>C	c.(991-993)caA>caC	p.Q331H	LRRC49_ENST00000544974.2_Missense_Mutation_p.Q321H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.Q336H|LRRC49_ENST00000560158.2_Missense_Mutation_p.Q19H|LRRC49_ENST00000560691.1_Missense_Mutation_p.Q37H|LRRC49_ENST00000443425.2_Missense_Mutation_p.Q287H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	331						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						GTCATAAACAATCTTTGCTTA	0.403													C	71272511	A	C	71272511	3	2	364	1	0	0	0	0	1	0	0	0	9076	98	4	5	1031	5	LRRC49	15	71272511	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	84294	71272511	31258881	11114	34616											
LRRC49	54839	broad.mit.edu	37	chr15	71341896	71341896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcagtcatagaaattcGcaataaaaattcctatatga	17	11	7	6	1	1	2	1	1	0	1	3	3	2	3	1	1	1	2	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71341896G>A	ENST00000260382.5	+	16	2266	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	LRRC49_ENST00000544974.2_Missense_Mutation_p.R659H|LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000560369.1_Missense_Mutation_p.R674H|LRRC49_ENST00000560158.2_Missense_Mutation_p.R357H|LRRC49_ENST00000560691.1_Missense_Mutation_p.R375H|LRRC49_ENST00000443425.2_Missense_Mutation_p.R625H	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	669						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						ATAGAAATTCGCAATAAAAAT	0.368													A	71341896	G	A	71341896	3	1	364	1	0	0	0	0	1	0	0	0	9076	1087	38	1	2068	1	LRRC49	15	71341896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69385	71341896	31189496	11115	34617											
THSD4	79875	broad.mit.edu	37	chr15	71447271	71447271	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccactcaacacaggaaGgtaagccatggccatccaga	13	5	8	15	0	1	1	1	0	0	1	3	2	3	2	5	3	2	1	5	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71447271G>T	ENST00000355327.3	+	3	233	c.99G>T	c.(97-99)aaG>aaT	p.K33N	RP11-673C5.2_ENST00000561571.1_RNA|THSD4_ENST00000261862.6_Splice_Site_p.K33N			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	33						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AACACAGGAAGGTAAGCCATG	0.527													T	71447271	G	T	71447271	5	4	364	1	0	0	0	0	0	0	1	0	15978	1014	35	4	105	4	THSD4	15	71447271	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105375	71447271	31084121	11116	34618											
THSD4	79875	broad.mit.edu	37	chr15	71952960	71952960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgggctgtcaggttgtgtCgggcgtgtttaagcatgccc	5	11	15	10	3	1	0	1	0	0	0	2	0	1	0	1	3	2	4	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:71952960C>T	ENST00000355327.3	+	8	1378	c.1244C>T	c.(1243-1245)tCg>tTg	p.S415L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Missense_Mutation_p.S415L|THSD4_ENST00000357769.4_Missense_Mutation_p.S55L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	415						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CAGGTTGTGTCGGGCGTGTTT	0.547													T	71952960	C	T	71952960	3	4	364	1	0	0	0	0	1	0	0	0	15978	893	31	1	1270	1	THSD4	15	71952960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	505689	71952960	30578432	11117	34619											
THSD4	79875	broad.mit.edu	37	chr15	72063538	72063538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaaccctcaggactgtgtcCctgaagttggtaagtagaga	11	10	12	8	0	1	2	1	1	0	1	2	4	2	3	2	2	1	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72063538C>T	ENST00000355327.3	+	17	3039	c.2905C>T	c.(2905-2907)Cct>Tct	p.P969S	THSD4_ENST00000261862.6_Missense_Mutation_p.P969S|THSD4_ENST00000357769.4_Missense_Mutation_p.P609S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	969						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GGACTGTGTCCCTGAAGTTGG	0.448													T	72063538	C	T	72063538	3	4	364	1	0	0	0	0	1	0	0	0	15978	623	22	2	2967	2	THSD4	15	72063538	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110578	72063538	30467854	11118	34620											
NR2E3	10002	broad.mit.edu	37	chr15	72105820	72105820	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtcctctgctggcacCgcccgaggcctctgctgccg	3	8	12	18	3	2	0	0	0	2	0	3	1	3	0	5	2	4	4	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72105820C>T	ENST00000398840.2	+	0	1029							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						CTGCTGGCACCGCCCGAGGCC	0.642													T	72105820	C	T	72105820	1	4	364	0	1	0	0	0	0	0	0	0	10702	652	23	1		1	NR2E3	15	72105820	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42282	72105820	30425572	11119	34621											
MYO9A	4649	broad.mit.edu	37	chr15	72338703	72338703	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccattcttctccaccaaattCctttacctctgctagaacat	10	14	2	15	0	3	1	0	0	3	1	5	1	4	1	5	0	3	1	5	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:72338703C>A	ENST00000356056.5	-	2	674	c.202G>T	c.(202-204)Gaa>Taa	p.E68*	MYO9A_ENST00000564571.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000444904.1_Nonsense_Mutation_p.E68*|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.E68*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	68	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCACCAAATTCCTTTACCTCT	0.423													A	72338703	C	A	72338703	4	1	364	1	0	0	0	0	0	1	0	0	10160	864	30	4	7608	4	MYO9A	15	72338703	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232883	72338703	30192689	11120	34622											
BBS4	585	broad.mit.edu	37	chr15	73029112	73029112	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacacaagatggtggagAtggctcagaagttgggagct	11	8	17	5	0	1	3	1	0	0	3	1	6	1	5	0	5	1	3	0	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73029112A>C	ENST00000268057.4	+	15	1299	c.1258A>C	c.(1258-1260)Atg>Ctg	p.M420L	BBS4_ENST00000395205.2_Missense_Mutation_p.M428L|BBS4_ENST00000539603.1_Missense_Mutation_p.M408L|BBS4_ENST00000542334.1_Missense_Mutation_p.M248L	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	420	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GATGGTGGAGATGGCTCAGAA	0.498									Bardet-Biedl syndrome				C	73029112	A	C	73029112	3	2	364	1	0	0	0	0	1	0	0	0	1344	333	12	5	1316	5	BBS4	15	73029112	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	690409	73029112	29502280	11121	34623											
ADPGK	83440	broad.mit.edu	37	chr15	73052808	73052808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcaatgactctggtggaaCaaagacattgtcatcaagaa	15	9	9	8	0	3	3	2	1	1	2	3	4	3	4	0	2	2	1	0	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73052808C>T	ENST00000311669.8	-	4	676	c.583G>A	c.(583-585)Gtt>Att	p.V195I	ADPGK_ENST00000567733.1_5'UTR	NM_031284.4	NP_112574.3	Q9BRR6	ADPGK_HUMAN	ADP-dependent glucokinase	195	ADPK.				glycolysis	extracellular region	ADP-specific glucokinase activity|metal ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)	7						TCTGGTGGAACAAAGACATTG	0.473													T	73052808	C	T	73052808	3	4	364	1	0	0	0	0	1	0	0	0	330	478	17	2	923	2	ADPGK	15	73052808	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23696	73052808	29478584	11122	34624											
NEO1	4756	broad.mit.edu	37	chr15	73541443	73541443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaccttcgtgcatatgcagCttcgcctacctccatcactg	8	12	6	15	2	1	0	1	0	0	0	4	0	2	0	4	0	5	3	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73541443C>T	ENST00000339362.5	+	11	2096	c.1649C>T	c.(1648-1650)gCt>gTt	p.A550V	NEO1_ENST00000560262.1_Missense_Mutation_p.A550V|NEO1_ENST00000261908.6_Missense_Mutation_p.A550V|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000558964.1_Missense_Mutation_p.A550V			Q92859	NEO1_HUMAN	neogenin 1	550	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GCATATGCAGCTTCGCCTACC	0.428													T	73541443	C	T	73541443	3	4	364	1	0	0	0	0	1	0	0	0	10412	797	28	2	1687	2	NEO1	15	73541443	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	488635	73541443	28989949	11123	34625											
NEO1	4756	broad.mit.edu	37	chr15	73567057	73567057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctctgataaaatgcctaAtgatcaaggtaaatgagtag	15	11	8	7	0	2	3	1	3	1	0	3	3	3	3	2	1	1	2	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73567057A>G	ENST00000339362.5	+	22	3632	c.3185A>G	c.(3184-3186)aAt>aGt	p.N1062S	NEO1_ENST00000560262.1_Missense_Mutation_p.N1062S|NEO1_ENST00000261908.6_Missense_Mutation_p.N1062S|NEO1_ENST00000558964.1_Intron			Q92859	NEO1_HUMAN	neogenin 1	1062					axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						AAAATGCCTAATGATCAAGGT	0.378													G	73567057	A	G	73567057	3	3	364	1	0	0	0	0	1	0	0	0	10412	101	4	3	3267	3	NEO1	15	73567057	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25614	73567057	28964335	11124	34626											
HCN4	10021	broad.mit.edu	37	chr15	73616290	73616290	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggatggagttcttcttgCctgggccacagaacaagaac	11	8	13	9	0	2	2	0	0	2	2	2	5	2	5	2	4	3	1	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73616290C>T	ENST00000261917.3	-	8	3137	c.2144G>A	c.(2143-2145)gGc>gAc	p.G715D		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	715					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTTCTTCTTGCCTGGGCCACA	0.562													T	73616290	C	T	73616290	5	4	364	1	0	0	0	0	0	0	1	0	7054	753	26	2	1471	2	HCN4	15	73616290	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49233	73616290	28915102	11125	34627											
HCN4	10021	broad.mit.edu	37	chr15	73635840	73635840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagtcttgtagacctcCgagtcgatgcgtgtctccac	6	10	12	13	4	2	1	0	0	2	1	5	3	3	1	3	1	1	2	3	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73635840C>T	ENST00000261917.3	-	2	2088	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	365					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		TGTAGACCTCCGAGTCGATGC	0.512													T	73635840	C	T	73635840	2	4	364	1	0	0	0	0	0	0	0	1	7054	639	23	1		1	HCN4	15	73635840	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19550	73635840	28895552	11126	34628											
C15orf60	283677	broad.mit.edu	37	chr15	73848684	73848684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagtgtgtgtaacagcGggcacaggcgctccagacgg	10	5	15	11	3	0	1	0	0	0	1	1	1	1	1	1	3	3	4	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73848684G>A	ENST00000331090.6	+	5	616	c.588G>A	c.(586-588)gcG>gcA	p.A196A	C15orf60_ENST00000560581.1_Silent_p.A168A	NM_001042367.1	NP_001035826.1	Q7Z4M0	CO060_HUMAN	chromosome 15 open reading frame 60	196										endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|pancreas(1)|prostate(2)	17						GTGTAACAGCGGGCACAGGCG	0.463													A	73848684	G	A	73848684	2	1	364	1	0	0	0	0	0	0	0	1	1821	1103	39	1		1	C15orf60	15	73848684	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212844	73848684	28682708	11127	34629											
NPTN	27020	broad.mit.edu	37	chr15	73889488	73889488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcctccaaggtgagcCgggttattctcagcacactc	9	9	10	13	1	1	2	1	1	1	1	5	2	3	2	3	2	2	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:73889488C>T	ENST00000345330.4	-	2	511	c.314G>A	c.(313-315)cGg>cAg	p.R105Q	NPTN_ENST00000351217.6_Intron|NPTN_ENST00000563691.1_Missense_Mutation_p.R105Q|NPTN_ENST00000542234.1_Intron|NPTN_ENST00000562924.1_Intron|NPTN_ENST00000545878.1_Missense_Mutation_p.R105Q|NPTN_ENST00000564551.1_Intron|NPTN_ENST00000287226.8_Missense_Mutation_p.R105Q	NM_001161363.1|NM_012428.3	NP_001154835.1|NP_036560.1	Q9Y639	NPTN_HUMAN	neuroplastin	105	Ig-like 1.				elevation of cytosolic calcium ion concentration|homophilic cell adhesion|long-term synaptic potentiation|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of long-term neuronal synaptic plasticity|positive regulation of neuron projection development|positive regulation of protein phosphorylation	integral to membrane|plasma membrane|presynaptic membrane	cell adhesion molecule binding|type 1 fibroblast growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	13						CAAGGTGAGCCGGGTTATTCT	0.577													T	73889488	C	T	73889488	3	4	364	1	0	0	0	0	1	0	0	0	10677	652	23	1	910	1	NPTN	15	73889488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40804	73889488	28641904	11128	34630											
STOML1	9399	broad.mit.edu	37	chr15	74280984	74280984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctccatctggatctcccGcagcggcctcttgagcaggg	5	10	11	15	2	4	1	0	1	4	0	6	2	4	2	3	3	2	2	3	3	0	2	rs114483410	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74280984G>A	ENST00000316900.5	-	4	674	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	STOML1_ENST00000561656.1_Missense_Mutation_p.R97W|STOML1_ENST00000316911.6_Missense_Mutation_p.R134W|STOML1_ENST00000541638.1_Missense_Mutation_p.R142W|STOML1_ENST00000564777.1_Missense_Mutation_p.R134W|STOML1_ENST00000359750.4_Missense_Mutation_p.R184W	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	184						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TGGATCTCCCGCAGCGGCCTC	0.617													A	74280984	G	A	74280984	3	1	364	1	0	0	0	0	1	0	0	0	15409	1086	38	1	662	1	STOML1	15	74280984	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	391496	74280984	28250408	11129	34631											
PML	5371	broad.mit.edu	37	chr15	74290723	74290723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcccctagcagagctgCgcaaccagtcggtgcgtgag	7	5	14	15	4	0	2	0	1	0	1	1	2	0	2	4	2	5	3	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74290723C>T	ENST00000565898.1	+	2	592	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	PML_ENST00000563500.1_Missense_Mutation_p.R170C|PML_ENST00000569477.1_Missense_Mutation_p.R170C|PML_ENST00000395135.3_Missense_Mutation_p.R170C|PML_ENST00000268058.3_Missense_Mutation_p.R170C|PML_ENST00000436891.3_Missense_Mutation_p.R170C|PML_ENST00000567543.1_Missense_Mutation_p.R170C|PML_ENST00000569965.1_Missense_Mutation_p.R170C|PML_ENST00000435786.2_Missense_Mutation_p.R170C|PML_ENST00000395132.2_Missense_Mutation_p.R170C|PML_ENST00000354026.6_Missense_Mutation_p.R170C|PML_ENST00000268059.6_Missense_Mutation_p.R170C|PML_ENST00000359928.4_Missense_Mutation_p.R170C|PML_ENST00000564428.1_Missense_Mutation_p.R170C			P29590	PML_HUMAN	promyelocytic leukemia	170					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						AGCAGAGCTGCGCAACCAGTC	0.622			T	"RARA, PAX5"	"APL, ALL"								T	74290723	C	T	74290723	3	4	364	1	0	0	0	0	1	0	0	0	12212	768	27	1	514	1	PML	15	74290723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9739	74290723	28240669	11130	34632											
PML	5371	broad.mit.edu	37	chr15	74337240	74337240	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcaacctgcaggctctggGcacctactttgaaggcctgt	7	12	10	12	0	2	1	1	1	1	0	2	1	2	1	3	3	3	3	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74337240G>T	ENST00000565898.1	+	8	2480	c.2396G>T	c.(2395-2397)gGc>gTc	p.G799V	PML_ENST00000268058.3_Missense_Mutation_p.G847V			P29590	PML_HUMAN	promyelocytic leukemia	847					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGCTCTGGGCACCTACTTT	0.652			T	"RARA, PAX5"	"APL, ALL"								T	74337240	G	T	74337240	3	4	364	1	0	0	0	0	1	0	0	0	12212	1203	42	4	3591	4	PML	15	74337240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46517	74337240	28194152	11131	34633											
ISLR2	57611	broad.mit.edu	37	chr15	74425273	74425273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgacgcttagtctgtccGcgaacaagatcactgtgctg	9	10	11	11	4	2	2	1	1	1	1	3	4	3	2	1	0	2	2	1	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425273G>A	ENST00000361742.3	+	4	947	c.178G>A	c.(178-180)Gcg>Acg	p.A60T	ISLR2_ENST00000435464.1_Missense_Mutation_p.A60T|ISLR2_ENST00000453268.2_Missense_Mutation_p.A60T|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.A60T|ISLR2_ENST00000565540.1_Missense_Mutation_p.A60T|ISLR2_ENST00000419208.1_Missense_Mutation_p.A60T|ISLR2_ENST00000445793.1_Missense_Mutation_p.A60T	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	60					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TAGTCTGTCCGCGAACAAGAT	0.632													A	74425273	G	A	74425273	3	1	364	1	0	0	0	0	1	0	0	0	7917	1087	38	1	180	1	ISLR2	15	74425273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88033	74425273	28106119	11132	34634											
ISLR2	57611	broad.mit.edu	37	chr15	74425567	74425567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgcatcaacaacaacCggctgcgtacgctggcgcct	8	6	10	17	5	1	0	1	0	0	0	1	0	1	0	3	2	6	4	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425567C>T	ENST00000361742.3	+	4	1241	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	ISLR2_ENST00000435464.1_Missense_Mutation_p.R158W|ISLR2_ENST00000453268.2_Missense_Mutation_p.R158W|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.R158W|ISLR2_ENST00000565540.1_Missense_Mutation_p.R158W|ISLR2_ENST00000419208.1_Missense_Mutation_p.R158W|ISLR2_ENST00000445793.1_Missense_Mutation_p.R158W	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	158					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CAACAACAACCGGCTGCGTAC	0.632													T	74425567	C	T	74425567	3	4	364	1	0	0	0	0	1	0	0	0	7917	643	23	1	474	1	ISLR2	15	74425567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294	74425567	28105825	11133	34635											
ISLR2	57611	broad.mit.edu	37	chr15	74425584	74425584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccggctgcgtacgctggcGcctggcaccttcgacgcgct	5	7	13	16	7	0	0	0	0	0	0	1	1	0	0	3	3	3	5	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425584G>A	ENST00000361742.3	+	4	1258	c.489G>A	c.(487-489)gcG>gcA	p.A163A	ISLR2_ENST00000435464.1_Silent_p.A163A|ISLR2_ENST00000453268.2_Silent_p.A163A|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.A163A|ISLR2_ENST00000565540.1_Silent_p.A163A|ISLR2_ENST00000419208.1_Silent_p.A163A|ISLR2_ENST00000445793.1_Silent_p.A163A	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	163					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GTACGCTGGCGCCTGGCACCT	0.657													A	74425584	G	A	74425584	2	1	364	1	0	0	0	0	0	0	0	1	7917	1074	38	1		1	ISLR2	15	74425584	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17	74425584	28105808	11134	34636											
ISLR2	57611	broad.mit.edu	37	chr15	74425650	74425650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcacaatcccttccactgCggctgcggccttgtgtggct	5	12	10	14	2	1	0	1	0	0	0	3	0	3	0	3	3	2	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74425650C>T	ENST00000361742.3	+	4	1324	c.555C>T	c.(553-555)tgC>tgT	p.C185C	ISLR2_ENST00000435464.1_Silent_p.C185C|ISLR2_ENST00000453268.2_Silent_p.C185C|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.C185C|ISLR2_ENST00000565540.1_Silent_p.C185C|ISLR2_ENST00000419208.1_Silent_p.C185C|ISLR2_ENST00000445793.1_Silent_p.C185C	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	185	LRRCT.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						CCTTCCACTGCGGCTGCGGCC	0.657													T	74425650	C	T	74425650	2	4	364	1	0	0	0	0	0	0	0	1	7917	776	27	1		1	ISLR2	15	74425650	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66	74425650	28105742	11135	34637											
ISLR2	57611	broad.mit.edu	37	chr15	74426914	74426914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctggtgctggccacagtgCcccttctgggcgccgcctgc	2	9	13	17	2	1	0	0	0	1	0	2	0	2	0	6	3	3	1	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74426914C>T	ENST00000361742.3	+	4	2588	c.1819C>T	c.(1819-1821)Ccc>Tcc	p.P607S	ISLR2_ENST00000435464.1_Missense_Mutation_p.P607S|ISLR2_ENST00000453268.2_Missense_Mutation_p.P607S|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.P607S|ISLR2_ENST00000565540.1_Missense_Mutation_p.P607S|ISLR2_ENST00000419208.1_Missense_Mutation_p.P607S|ISLR2_ENST00000445793.1_Missense_Mutation_p.P607S	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	607					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GGCCACAGTGCCCCTTCTGGG	0.627											OREG0023277	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	74426914	C	T	74426914	3	4	364	1	0	0	0	0	1	0	0	0	7917	739	26	2	1821	2	ISLR2	15	74426914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1264	74426914	28104478	11136	34638											
CCDC33	80125	broad.mit.edu	37	chr15	74565141	74565141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctaacagggacctggcctCtgtggggctgcccatcaccc	6	7	13	15	0	2	0	1	0	1	0	2	1	2	1	4	5	2	2	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565141C>T	ENST00000321288.5	+	9	1277	c.1277C>T	c.(1276-1278)tCt>tTt	p.S426F	CCDC33_ENST00000398814.3_Missense_Mutation_p.S223F			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	426							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GACCTGGCCTCTGTGGGGCTG	0.652													T	74565141	C	T	74565141	3	4	364	1	0	0	0	0	1	0	0	0	2833	913	32	2	694	2	CCDC33	15	74565141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138227	74565141	27966251	11137	34639											
CCDC33	80125	broad.mit.edu	37	chr15	74565152	74565152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctggcctctgtggggctgCccatcaccccactgtccttc	4	10	9	18	0	2	0	1	0	1	0	4	0	3	0	6	3	1	1	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74565152C>T	ENST00000321288.5	+	9	1288	c.1288C>T	c.(1288-1290)Ccc>Tcc	p.P430S	CCDC33_ENST00000398814.3_Missense_Mutation_p.P227S			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	430							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGTGGGGCTGCCCATCACCCC	0.637													T	74565152	C	T	74565152	3	4	364	1	0	0	0	0	1	0	0	0	2833	739	26	2	705	2	CCDC33	15	74565152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11	74565152	27966240	11138	34640											
SEMA7A	8482	broad.mit.edu	37	chr15	74708206	74708206	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctggggtcagggagcaGgaagacgtcttgcagcctgt	7	7	17	10	2	2	1	1	0	1	1	2	3	2	3	2	4	3	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74708206G>T	ENST00000261918.4	-	8	1470	c.922C>A	c.(922-924)Ctg>Atg	p.L308M	SEMA7A_ENST00000542748.1_Missense_Mutation_p.L143M|SEMA7A_ENST00000543145.2_Missense_Mutation_p.L294M	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	308	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						TCAGGGAGCAGGAAGACGTCT	0.567													T	74708206	G	T	74708206	3	4	364	1	0	0	0	0	1	0	0	0	14136	991	35	4	1106	4	SEMA7A	15	74708206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	143054	74708206	27823186	11139	34641											
UBL7	84993	broad.mit.edu	37	chr15	74748994	74748994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcatcttttagcttcCgaccacagtagatcagatct	9	14	7	11	1	5	2	2	0	3	2	6	3	6	2	2	1	1	2	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74748994C>T	ENST00000567435.1	-	3	666	c.203G>A	c.(202-204)cGg>cAg	p.R68Q	UBL7_ENST00000564488.1_Missense_Mutation_p.R68Q|UBL7_ENST00000395081.2_Missense_Mutation_p.R68Q|UBL7_ENST00000565335.1_Missense_Mutation_p.R68Q|UBL7_ENST00000361351.4_Missense_Mutation_p.R68Q			Q96S82	UBL7_HUMAN	ubiquitin-like 7 (bone marrow stromal cell-derived)	68	Ubiquitin-like.						protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9						TTTTAGCTTCCGACCACAGTA	0.413													T	74748994	C	T	74748994	3	4	364	1	0	0	0	0	1	0	0	0	16992	652	23	1	975	1	UBL7	15	74748994	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40788	74748994	27782398	11140	34642											
ARID3B	10620	broad.mit.edu	37	chr15	74884148	74884148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgaagatcaggatcaaCggcaggggtgagccaggctc	11	5	14	11	1	2	3	2	2	0	1	3	4	2	4	2	5	2	2	2	5	2	0	rs149040930	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74884148C>T	ENST00000346246.5	+	7	1644	c.1413C>T	c.(1411-1413)aaC>aaT	p.N471N		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	471	REKLES.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						TCAGGATCAACGGCAGGGGTG	0.642													T	74884148	C	T	74884148	2	4	364	1	0	0	0	0	0	0	0	1	920	535	19	1		1	ARID3B	15	74884148	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135154	74884148	27647244	11141	34643											
CLK3	1198	broad.mit.edu	37	chr15	74911560	74911560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatcactgtaagcgataccGctcccctgaaccagacccgt	10	7	8	16	3	1	2	1	1	0	1	2	3	2	2	5	0	3	3	5	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74911560G>A	ENST00000395066.3	+	2	928	c.467G>A	c.(466-468)cGc>cAc	p.R156H	CLK3_ENST00000348245.3_Missense_Mutation_p.R8H|CLK3_ENST00000352989.5_Missense_Mutation_p.R8H|CLK3_ENST00000345005.4_Missense_Mutation_p.R8H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	156						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AAGCGATACCGCTCCCCTGAA	0.607													A	74911560	G	A	74911560	3	1	364	1	0	0	0	0	1	0	0	0	3569	1087	38	1	473	1	CLK3	15	74911560	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27412	74911560	27619832	11142	34644											
CLK3	1198	broad.mit.edu	37	chr15	74912538	74912538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccactgccacaaacgccGcaccaggtcttgtagcagcg	10	5	9	17	3	1	0	0	0	1	0	1	0	1	0	5	1	4	3	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74912538G>A	ENST00000395066.3	+	3	1246	c.785G>A	c.(784-786)cGc>cAc	p.R262H	CLK3_ENST00000348245.3_Missense_Mutation_p.R114H|CLK3_ENST00000352989.5_Missense_Mutation_p.R114H|CLK3_ENST00000345005.4_Missense_Mutation_p.R114H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	262	Arg-rich.					acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						CACAAACGCCGCACCAGGTCT	0.617													A	74912538	G	A	74912538	3	1	364	1	0	0	0	0	1	0	0	0	3569	1087	38	1	795	1	CLK3	15	74912538	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	978	74912538	27618854	11143	34645											
CLK3	1198	broad.mit.edu	37	chr15	74914483	74914483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccaacagagcagtaagcGcagcagccggagtgtggaag	14	3	15	9	2	0	1	0	0	0	1	0	3	0	3	2	2	6	4	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:74914483G>A	ENST00000395066.3	+	4	1297	c.836G>A	c.(835-837)cGc>cAc	p.R279H	CLK3_ENST00000348245.3_Intron|CLK3_ENST00000352989.5_Missense_Mutation_p.R131H|CLK3_ENST00000345005.4_Missense_Mutation_p.R131H	NM_001130028.1	NP_001123500.1	P49761	CLK3_HUMAN	CDC-like kinase 3	279						acrosomal vesicle|nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)|stomach(2)|urinary_tract(1)	15						AGCAGTAAGCGCAGCAGCCGG	0.562													A	74914483	G	A	74914483	3	1	364	1	0	0	0	0	1	0	0	0	3569	1087	38	1	850	1	CLK3	15	74914483	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1945	74914483	27616909	11144	34646											
CYP1A1	1543	broad.mit.edu	37	chr15	75014932	75014932	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcctgcaacgtgcttatcagGacctcagcctccttgctcac	7	11	7	16	1	3	0	3	0	0	0	5	1	5	1	4	1	5	3	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75014932G>A	ENST00000379727.3	-	2	705	c.507C>T	c.(505-507)gtC>gtT	p.V169V	CYP1A1_ENST00000395049.4_Silent_p.V169V|CYP1A1_ENST00000564596.1_Intron|CYP1A1_ENST00000395048.2_Silent_p.V169V|CYP1A1_ENST00000567032.1_Silent_p.V169V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	169					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	TGCTTATCAGGACCTCAGCCT	0.547									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				A	75014932	G	A	75014932	2	1	364	1	0	0	0	0	0	0	0	1	4182	1161	41	2		2	CYP1A1	15	75014932	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100449	75014932	27516460	11145	34647											
CSK	1445	broad.mit.edu	37	chr15	75093199	75093199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaccgagggaacaaagtcGccgtcaagtgcattaagaac	15	7	10	9	3	1	1	1	0	0	1	2	3	1	2	2	1	4	1	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75093199G>A	ENST00000220003.9	+	8	1387	c.658G>A	c.(658-660)Gcc>Acc	p.A220T	CSK_ENST00000439220.2_Missense_Mutation_p.A220T|CSK_ENST00000309470.9_Missense_Mutation_p.A220T|CSK_ENST00000567571.1_Missense_Mutation_p.A220T	NM_004383.2	NP_004374.1	P41240	CSK_HUMAN	c-src tyrosine kinase	220	Protein kinase.				blood coagulation|epidermal growth factor receptor signaling pathway|T cell costimulation|T cell receptor signaling pathway	centrosome|cytosol|Golgi apparatus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein C-terminus binding			central_nervous_system(1)|lung(2)	3						GAACAAAGTCGCCGTCAAGTG	0.632											OREG0023291	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75093199	G	A	75093199	3	1	364	1	0	0	0	0	1	0	0	0	3976	1087	38	1	684	1	CSK	15	75093199	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78267	75093199	27438193	11146	34648											
LMAN1L	79748	broad.mit.edu	37	chr15	75108826	75108826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccttggggggctggcttCgtgggacggcatcgggatct	3	11	18	9	3	1	0	0	0	1	0	4	2	2	2	1	7	0	3	1	7	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75108826C>T	ENST00000309664.5	+	3	528	c.389C>T	c.(388-390)tCg>tTg	p.S130L	LMAN1L_ENST00000379709.3_Missense_Mutation_p.S130L	NM_021819.2	NP_068591.2	Q9HAT1	LMA1L_HUMAN	lectin, mannose-binding, 1 like	130	L-type lectin-like.					ER-Golgi intermediate compartment membrane|integral to membrane	sugar binding	p.S130L(1)		NS(2)|breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCTGGCTTCGTGGGACGGC	0.667													T	75108826	C	T	75108826	3	4	364	1	0	0	0	0	1	0	0	0	8898	893	31	1	399	1	LMAN1L	15	75108826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15627	75108826	27422566	11147	34649											
CPLX3	594855	broad.mit.edu	37	chr15	75122677	75122677	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctcaagcaatcagctgaGaagtgtcacgtcatgtgacc	12	9	10	10	1	4	2	4	2	1	1	5	4	4	2	1	0	2	2	1	0	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75122677G>A	ENST00000395018.4	+	3	616	c.459G>A	c.(457-459)gaG>gaA	p.E153E	RP11-414J4.2_ENST00000564823.1_RNA	NM_001030005.2	NP_001025176.1	Q8WVH0	CPLX3_HUMAN	complexin 3	153						cell junction|synapse	syntaxin binding	p.E153D(1)		large_intestine(2)|lung(2)	4						AATCAGCTGAGAAGTGTCACG	0.592													A	75122677	G	A	75122677	2	1	364	1	0	0	0	0	0	0	0	1	3837	933	33	2		2	CPLX3	15	75122677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13851	75122677	27408715	11148	34650											
SCAMP2	10066	broad.mit.edu	37	chr15	75140965	75140965	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccccaggccagggatgccaAccaactggatgatgtagatc	11	6	11	13	0	0	2	0	1	0	1	1	4	0	4	5	3	3	1	5	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75140965A>G	ENST00000268099.9	-	7	819	c.710T>C	c.(709-711)gTt>gCt	p.V237A		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	237					post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						AGGGATGCCAACCAACTGGAT	0.483													G	75140965	A	G	75140965	3	3	364	1	0	0	0	0	1	0	0	0	13963	43	2	3	291	3	SCAMP2	15	75140965	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18288	75140965	27390427	11149	34651											
MPI	4351	broad.mit.edu	37	chr15	75188494	75188494	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctctgtgaccctcagcGgctgccggaaacaacatgga	9	7	13	12	2	2	1	1	1	1	0	2	3	2	3	2	4	5	2	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75188494G>A	ENST00000352410.4	+	6	739	c.672G>A	c.(670-672)gcG>gcA	p.A224A	MPI_ENST00000563786.1_Splice_Site_p.A204A|MPI_ENST00000564003.1_Splice_Site_p.T113T|MPI_ENST00000535694.1_Splice_Site_p.A174A|MPI_ENST00000323744.6_Splice_Site_p.T163T|MPI_ENST00000562606.1_Splice_Site_p.A204A|MPI_ENST00000563422.1_Splice_Site_p.A224A|MPI_ENST00000566377.1_Splice_Site_p.A224A			P34949	MPI_HUMAN	mannose phosphate isomerase	224					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding	p.A224A(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						GACCCTCAGCGGCTGCCGGAA	0.557													A	75188494	G	A	75188494	5	1	364	1	0	0	0	0	0	0	1	0	9805	1130	39	1	694	1	MPI	15	75188494	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47529	75188494	27342898	11150	34652											
MPI	4351	broad.mit.edu	37	chr15	75190063	75190063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatattccgtgcctgctgtCtgctgtaaaggctgcagcct	6	13	11	11	1	1	1	0	1	1	0	2	1	2	1	3	1	5	5	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75190063C>T	ENST00000352410.4	+	8	1331	c.1264C>T	c.(1264-1266)Ctg>Ttg	p.L422L	MPI_ENST00000563786.1_Silent_p.L402L|MPI_ENST00000535694.1_Silent_p.L372L|MPI_ENST00000323744.6_Silent_p.L361L|MPI_ENST00000566377.1_3'UTR			P34949	MPI_HUMAN	mannose phosphate isomerase	422					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	cytosol	mannose-6-phosphate isomerase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	9						TGCCTGCTGTCTGCTGTAAAG	0.592													T	75190063	C	T	75190063	2	4	364	1	0	0	0	0	0	0	0	1	9805	912	32	2		2	MPI	15	75190063	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1569	75190063	27341329	11151	34653											
SCAMP5	192683	broad.mit.edu	37	chr15	75310806	75310806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaacgaacattggctcggCggtggtgatgctaattccca	9	9	13	10	4	0	1	0	1	0	0	2	3	1	2	1	5	3	2	1	5	3	3	rs138727668	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75310806C>T	ENST00000361900.6	+	7	650	c.443C>T	c.(442-444)gCg>gTg	p.A148V	SCAMP5_ENST00000425597.3_Missense_Mutation_p.A148V|SCAMP5_ENST00000562212.1_Missense_Mutation_p.A156V|SCAMP5_ENST00000568081.1_Missense_Mutation_p.A81V|SCAMP5_ENST00000545456.1_Missense_Mutation_p.A77V	NM_001178111.1	NP_001171582.1	Q8TAC9	SCAM5_HUMAN	secretory carrier membrane protein 5	148					exocytosis|negative regulation of endocytosis|positive regulation of calcium ion-dependent exocytosis|positive regulation of cytokine secretion|protein transport|response to endoplasmic reticulum stress	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane|trans-Golgi network membrane	protein binding			large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	5						ATTGGCTCGGCGGTGGTGATG	0.577													T	75310806	C	T	75310806	3	4	364	1	0	0	0	0	1	0	0	0	13966	768	27	1	461	1	SCAMP5	15	75310806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120743	75310806	27220586	11152	34654											
C15orf39	56905	broad.mit.edu	37	chr15	75498424	75498424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgagaaccctggggcCtgtgatgtatggcaagctgc	8	8	13	12	0	0	2	0	2	0	1	0	3	0	2	4	3	3	3	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498424C>A	ENST00000360639.2	+	2	355	c.35C>A	c.(34-36)cCt>cAt	p.P12H	C15orf39_ENST00000394987.4_Missense_Mutation_p.P12H|C15orf39_ENST00000567617.1_Missense_Mutation_p.P12H			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	12										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						ACCCTGGGGCCTGTGATGTAT	0.602													A	75498424	C	A	75498424	3	1	364	1	0	0	0	0	1	0	0	0	1806	681	24	4	37	4	C15orf39	15	75498424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187618	75498424	27032968	11153	34655											
C15orf39	56905	broad.mit.edu	37	chr15	75498566	75498566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtactcctaaggccgaGtctgagcagttggcgtcctg	7	9	14	11	2	1	1	0	1	1	0	3	2	3	1	3	3	2	4	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75498566G>A	ENST00000360639.2	+	2	497	c.177G>A	c.(175-177)gaG>gaA	p.E59E	C15orf39_ENST00000394987.4_Silent_p.E59E|C15orf39_ENST00000567617.1_Silent_p.E59E			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	59										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTAAGGCCGAGTCTGAGCAGT	0.602													A	75498566	G	A	75498566	2	1	364	1	0	0	0	0	0	0	0	1	1806	1020	36	2		2	C15orf39	15	75498566	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142	75498566	27032826	11154	34656											
C15orf39	56905	broad.mit.edu	37	chr15	75499519	75499519	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttgccccccagacactgaGttttccttatgcccgggatg	6	12	9	14	1	0	2	0	1	0	1	1	3	1	3	5	1	2	1	5	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75499519G>T	ENST00000360639.2	+	2	1450	c.1130G>T	c.(1129-1131)aGt>aTt	p.S377I	C15orf39_ENST00000394987.4_Missense_Mutation_p.S377I|C15orf39_ENST00000567617.1_Missense_Mutation_p.S377I			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	377										autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CAGACACTGAGTTTTCCTTAT	0.622													T	75499519	G	T	75499519	3	4	364	1	0	0	0	0	1	0	0	0	1806	1029	36	4	1132	4	C15orf39	15	75499519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	953	75499519	27031873	11155	34657											
MAN2C1	4123	broad.mit.edu	37	chr15	75652465	75652465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggctgctgggtataGgaactgggcactgcgggcca	7	7	17	10	1	0	0	0	0	0	0	0	1	0	1	1	5	4	5	1	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75652465G>T	ENST00000565683.1	-	14	1683	c.1672C>A	c.(1672-1674)Cta>Ata	p.L558I	MAN2C1_ENST00000563622.1_Missense_Mutation_p.L459I|MAN2C1_ENST00000569482.1_Missense_Mutation_p.L558I|MAN2C1_ENST00000267978.5_Missense_Mutation_p.L558I	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	558					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGGGTATAGGAACTGGGCA	0.622													T	75652465	G	T	75652465	3	4	364	1	0	0	0	0	1	0	0	0	9293	991	35	4	1502	4	MAN2C1	15	75652465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152946	75652465	26878927	11156	34658											
PTPN9	5780	broad.mit.edu	37	chr15	75761231	75761231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctggatgctgaaggccCtctgggtcctcatgcgtgac	5	10	15	11	1	3	2	1	2	2	0	4	3	4	3	2	4	2	1	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75761231C>A	ENST00000306726.2	-	13	2173	c.1661G>T	c.(1660-1662)aGg>aTg	p.R554M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	554	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GCTGAAGGCCCTCTGGGTCCT	0.552													A	75761231	C	A	75761231	3	1	364	1	0	0	0	0	1	0	0	0	12882	681	24	4	124	4	PTPN9	15	75761231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108766	75761231	26770161	11157	34659											
PTPN9	5780	broad.mit.edu	37	chr15	75798101	75798101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcttttgcctggcattaaCatagtccaccaactcttgga	9	14	7	11	0	1	0	0	0	1	0	2	1	2	1	3	2	4	2	3	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75798101C>T	ENST00000306726.2	-	7	1395	c.883G>A	c.(883-885)Gtt>Att	p.V295I	PTPN9_ENST00000564970.1_5'UTR	NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	295						cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTGGCATTAACATAGTCCACC	0.468													T	75798101	C	T	75798101	3	4	364	1	0	0	0	0	1	0	0	0	12882	478	17	2	926	2	PTPN9	15	75798101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36870	75798101	26733291	11158	34660											
PTPN9	5780	broad.mit.edu	37	chr15	75809691	75809691	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agataaacaccagtccattcCtctgagtttcaaagctgtaa	14	11	6	10	0	2	2	1	1	1	1	4	2	4	2	3	0	2	3	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75809691C>A	ENST00000306726.2	-	5	949	c.437G>T	c.(436-438)aGg>aTg	p.R146M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	146	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CAGTCCATTCCTCTGAGTTTC	0.398													A	75809691	C	A	75809691	3	1	364	1	0	0	0	0	1	0	0	0	12882	681	24	4	1380	4	PTPN9	15	75809691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11590	75809691	26721701	11159	34661											
PTPN9	5780	broad.mit.edu	37	chr15	75815540	75815540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtggggatgatgcaacCtggcagtaaagagggcaatg	12	8	15	6	0	0	2	0	1	0	1	0	3	0	3	1	4	2	4	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75815540C>A	ENST00000306726.2	-	4	856	c.344G>T	c.(343-345)aGg>aTg	p.R115M		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	115	CRAL-TRIO.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATGATGCAACCTGGCAGTAAA	0.398													A	75815540	C	A	75815540	3	1	364	1	0	0	0	0	1	0	0	0	12882	681	24	4	1477	4	PTPN9	15	75815540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5849	75815540	26715852	11160	34662											
SNUPN	10073	broad.mit.edu	37	chr15	75890978	75890978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccaagggagtgcttccGgggctgtagtgggtctgttt	5	11	15	10	1	1	0	0	0	1	0	2	1	2	1	3	4	1	4	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75890978G>A	ENST00000371091.5	-	10	1382	c.930C>T	c.(928-930)ccC>ccT	p.P310P	SNUPN_ENST00000308588.5_Silent_p.P268P|CTD-2323K18.1_ENST00000568707.1_RNA|SNUPN_ENST00000567134.1_Silent_p.P268P|SNUPN_ENST00000564675.1_Silent_p.P268P|SNUPN_ENST00000564644.1_Silent_p.P268P			O95149	SPN1_HUMAN	snurportin 1	268	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						GAGTGCTTCCGGGGCTGTAGT	0.552													A	75890978	G	A	75890978	2	1	364	1	0	0	0	0	0	0	0	1	14971	1103	39	1		1	SNUPN	15	75890978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75438	75890978	26640414	11161	34663											
SNUPN	10073	broad.mit.edu	37	chr15	75899557	75899557	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggatccatccctacCtggcaatcataaaaagggtg	14	7	11	9	0	1	1	1	0	0	1	3	3	3	3	3	4	1	1	3	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75899557C>A	ENST00000371091.5	-	7	1178	c.726G>T	c.(724-726)caG>caT	p.Q242H	SNUPN_ENST00000308588.5_Splice_Site_p.Q200H|SNUPN_ENST00000567134.1_Splice_Site_p.Q200H|SNUPN_ENST00000564675.1_Splice_Site_p.Q200H|SNUPN_ENST00000564644.1_Splice_Site_p.Q200H			O95149	SPN1_HUMAN	snurportin 1	200	Necessary for binding to the m3G-cap structure.				ncRNA metabolic process|protein import into nucleus|spliceosomal snRNP assembly	cytosol|nuclear pore	protein transporter activity|RNA cap binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						CCATCCCTACCTGGCAATCAT	0.502													A	75899557	C	A	75899557	5	1	364	1	0	0	0	0	0	0	1	0	14971	695	24	4	498	4	SNUPN	15	75899557	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8579	75899557	26631835	11162	34664											
SNX33	257364	broad.mit.edu	37	chr15	75942139	75942139	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatccccacccatttgcctgCtctgtggaggaccccacaaa	10	8	7	16	0	1	0	0	0	1	0	2	2	2	2	6	2	2	1	6	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942139C>A	ENST00000308527.5	+	1	1893	c.696C>A	c.(694-696)tgC>tgA	p.C232*		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	232	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CATTTGCCTGCTCTGTGGAGG	0.562													A	75942139	C	A	75942139	4	1	364	1	0	0	0	0	0	1	0	0	14997	805	28	4	698	4	SNX33	15	75942139	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42582	75942139	26589253	11163	34665											
SNX33	257364	broad.mit.edu	37	chr15	75942222	75942222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcacacccacccatgctgCctcacccgtctaccggcgct	6	7	7	21	3	3	0	2	0	1	0	3	0	3	0	5	1	3	3	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75942222C>T	ENST00000308527.5	+	1	1976	c.779C>T	c.(778-780)gCc>gTc	p.A260V		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	260	PX.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						ACCCATGCTGCCTCACCCGTC	0.547													T	75942222	C	T	75942222	3	4	364	1	0	0	0	0	1	0	0	0	14997	739	26	2	781	2	SNX33	15	75942222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	75942222	26589170	11164	34666											
SNX33	257364	broad.mit.edu	37	chr15	75949440	75949440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgaaccacttccaccagCgccgtgagctcgacttcaag	11	7	9	14	3	1	3	1	2	0	1	3	4	2	3	4	0	3	1	4	0	2	2	rs138286330		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75949440C>T	ENST00000308527.5	+	2	2806	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	537	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CTTCCACCAGCGCCGTGAGCT	0.632													T	75949440	C	T	75949440	3	4	364	1	0	0	0	0	1	0	0	0	14997	768	27	1	1615	1	SNX33	15	75949440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7218	75949440	26581952	11165	34667											
CSPG4	1464	broad.mit.edu	37	chr15	75975062	75975062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcagagaggcggaagcGgaagcctccatccagggttc	9	5	15	12	3	1	1	1	0	0	1	4	4	3	3	4	4	2	1	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75975062G>A	ENST00000308508.5	-	7	4761	c.4669C>T	c.(4669-4671)Cgc>Tgc	p.R1557C		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1557	Gly/Ser-rich (glycosaminoglycan attachment domain).			R -> P (in Ref. 1; CAA65529).	angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						AGGCGGAAGCGGAAGCCTCCA	0.667													A	75975062	G	A	75975062	3	1	364	1	0	0	0	0	1	0	0	0	3993	1116	39	1	2315	1	CSPG4	15	75975062	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25622	75975062	26556330	11166	34668											
CSPG4	1464	broad.mit.edu	37	chr15	75982697	75982697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcctggaaggccaagggtgCctgccggctctgtgtggtga	5	9	17	10	1	1	1	0	1	1	0	1	2	1	2	4	5	3	1	4	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:75982697C>T	ENST00000308508.5	-	3	801	c.709G>A	c.(709-711)Gca>Aca	p.A237T		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	237	Globular or compact configuration stabilized by disulfide bonds.|Laminin G-like 2.|Neurite growth inhibition (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						GCCAAGGGTGCCTGCCGGCTC	0.642													T	75982697	C	T	75982697	3	4	364	1	0	0	0	0	1	0	0	0	3993	739	26	2	6291	2	CSPG4	15	75982697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7635	75982697	26548695	11167	34669											
UBE2Q2	92912	broad.mit.edu	37	chr15	76165893	76165893	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaattaggaagactcaaaGgcaagaccatttaaatgtaa	20	8	8	5	0	1	2	1	0	0	2	1	4	1	3	1	2	0	2	1	2	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76165893G>T	ENST00000267938.4	+	5	954	c.572G>T	c.(571-573)aGg>aTg	p.R191M	UBE2Q2_ENST00000338677.4_Missense_Mutation_p.R191M|UBE2Q2_ENST00000569423.1_Missense_Mutation_p.R156M|UBE2Q2_ENST00000561851.1_Missense_Mutation_p.R175M	NM_173469.2	NP_775740.1	Q8WVN8	UB2Q2_HUMAN	ubiquitin-conjugating enzyme E2Q family member 2	191					protein K48-linked ubiquitination	cytoplasm	ATP binding|ubiquitin-protein ligase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	12						AAGACTCAAAGGCAAGACCAT	0.343													T	76165893	G	T	76165893	3	4	364	1	0	0	0	0	1	0	0	0	16972	1000	35	4	726	4	UBE2Q2	15	76165893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183196	76165893	26365499	11168	34670											
FBXO22	26263	broad.mit.edu	37	chr15	76222395	76222395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgacttctgaaaagtatGtcttgtgtgcttctgatttc	8	17	8	8	0	3	3	0	3	3	0	4	3	3	3	0	0	1	2	0	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76222395G>A	ENST00000453211.2	+	6	885	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	FBXO22_ENST00000540507.1_Intron|FBXO22_ENST00000308275.3_Intron	NM_012170.3	NP_036302.1	Q8NEZ5	FBX22_HUMAN	F-box protein 22	0					ubiquitin-dependent protein catabolic process		ubiquitin-protein ligase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGAAAAGTATGTCTTGTGTGC	0.383													A	76222395	G	A	76222395	3	1	364	1	0	0	0	0	1	0	0	0	5783	1377	48	2	821	2	FBXO22	15	76222395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56502	76222395	26308997	11169	34671											
C15orf27	123591	broad.mit.edu	37	chr15	76430170	76430170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgggacttgcccctggctgCtgtcgatctctccacggcgg	3	10	13	15	4	1	0	0	0	1	0	5	2	2	1	3	4	2	2	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76430170C>T	ENST00000388942.3	+	3	437	c.161C>T	c.(160-162)gCt>gTt	p.A54V		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	54						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						CCCCTGGCTGCTGTCGATCTC	0.522													T	76430170	C	T	76430170	3	4	364	1	0	0	0	0	1	0	0	0	1801	797	28	2	167	2	C15orf27	15	76430170	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207775	76430170	26101222	11170	34672											
C15orf27	123591	broad.mit.edu	37	chr15	76462158	76462158	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcacttcctttcctcagaCtgttctacggattgtggtgc	5	16	8	12	1	3	1	2	0	2	1	6	2	5	2	2	2	2	1	2	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76462158C>T	ENST00000388942.3	+	6	734	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_152335.2	NP_689548.2	Q2M3C6	CO027_HUMAN	chromosome 15 open reading frame 27	153						integral to membrane				endometrium(1)|large_intestine(1)|lung(10)|pancreas(1)	13						TTTCCTCAGACTGTTCTACGG	0.493													T	76462158	C	T	76462158	5	4	364	1	0	0	0	0	0	0	1	0	1801	579	20	2	476	2	C15orf27	15	76462158	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31988	76462158	26069234	11171	34673											
ETFA	2108	broad.mit.edu	37	chr15	76580230	76580230	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcaggtgacttgattgcAatgatgtcagaaatcggggc	10	11	14	6	1	2	4	2	3	0	1	3	4	2	4	0	3	1	1	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76580230A>G	ENST00000557943.1	-	5	488	c.408T>C	c.(406-408)atT>atC	p.I136I	ETFA_ENST00000433983.2_Silent_p.I87I|ETFA_ENST00000559602.1_Silent_p.I32I|ETFA_ENST00000560726.1_5'UTR	NM_000126.3	NP_000117.1	P13804	ETFA_HUMAN	electron-transfer-flavoprotein, alpha polypeptide	136					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity			endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9						ACTTGATTGCAATGATGTCAG	0.363													G	76580230	A	G	76580230	2	3	364	1	0	0	0	0	0	0	0	1	5310	126	5	3		3	ETFA	15	76580230	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	118072	76580230	25951162	11172	34674											
SCAPER	49855	broad.mit.edu	37	chr15	76726652	76726652	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatctggaacataaacCtagatgaaaaaaaagtacag	19	10	6	6	0	2	2	1	1	1	1	2	3	2	3	1	1	3	1	1	1	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:76726652C>A	ENST00000538941.2	-	26	3280		c.e26-1		SCAPER_ENST00000324767.7_Splice_Site|SCAPER_ENST00000563290.1_Splice_Site	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER							endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GAACATAAACCTAGATGAAAA	0.318													A	76726652	C	A	76726652	5	1	364	1	0	0	0	0	0	0	1	0	13970	695	24	4	1152	4	SCAPER	15	76726652	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146422	76726652	25804740	11173	34675											
HMG20A	10363	broad.mit.edu	37	chr15	77750753	77750753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttttcctttcagagagatgGaaaacttgatgactagctcc	11	13	8	9	0	1	4	1	2	0	2	3	6	3	5	2	1	2	1	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77750753G>A	ENST00000381714.3	+	3	432	c.4G>A	c.(4-6)Gaa>Aaa	p.E2K	HMG20A_ENST00000336216.4_Missense_Mutation_p.E2K	NM_018200.2	NP_060670.1	Q9NP66	HM20A_HUMAN	high mobility group 20A	2					chromatin modification	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						CAGAGAGATGGAAAACTTGAT	0.403													A	77750753	G	A	77750753	3	1	364	1	0	0	0	0	1	0	0	0	7276	1175	41	2	6	2	HMG20A	15	77750753	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1024101	77750753	24780639	11174	34676											
LINGO1	84894	broad.mit.edu	37	chr15	77906437	77906437	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcggcggagctgatgccTgcgtccgactttcggggcac	4	8	16	13	6	0	1	0	1	0	0	3	3	1	2	2	4	3	2	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906437T>C	ENST00000355300.6	-	2	1986	c.1812A>G	c.(1810-1812)gcA>gcG	p.A604A	LINGO1_ENST00000561030.1_Silent_p.A598A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	604					negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						AGCTGATGCCTGCGTCCGACT	0.652													C	77906437	T	C	77906437	2	2	364	1	0	0	0	0	0	0	0	1	8875	1567	55	3		3	LINGO1	15	77906437	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	155684	77906437	24624955	11175	34677											
LINGO1	84894	broad.mit.edu	37	chr15	77906905	77906905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcggcgggtcgccatcGgcccggcacacaaactgcac	7	3	15	16	6	0	0	0	0	0	0	2	0	0	0	2	5	2	2	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:77906905G>A	ENST00000355300.6	-	2	1518	c.1344C>T	c.(1342-1344)gcC>gcT	p.A448A	LINGO1_ENST00000561030.1_Silent_p.A442A	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	448	Ig-like C2-type.				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						GGTCGCCATCGGCCCGGCACA	0.672													A	77906905	G	A	77906905	2	1	364	1	0	0	0	0	0	0	0	1	8875	1103	39	1		1	LINGO1	15	77906905	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	468	77906905	24624487	11176	34678											
TBC1D2B	23102	broad.mit.edu	37	chr15	78317661	78317661	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgctggctctggacctgCagttgcatttcggaggccgg	4	11	14	12	2	1	0	0	0	1	0	3	2	2	2	3	5	3	5	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78317661C>T	ENST00000409931.3	-	5	1097	c.1026G>A	c.(1024-1026)ctG>ctA	p.L342L	TBC1D2B_ENST00000300584.3_Silent_p.L342L			Q9UPU7	TBD2B_HUMAN	TBC1 domain family, member 2B	342						intracellular	protein binding|Rab GTPase activator activity	p.L342L(2)		breast(3)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	26						TCTGGACCTGCAGTTGCATTT	0.532													T	78317661	C	T	78317661	2	4	364	1	0	0	0	0	0	0	0	1	15716	697	25	2		2	TBC1D2B	15	78317661	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	410756	78317661	24213731	11177	34679											
SH2D7	646892	broad.mit.edu	37	chr15	78390415	78390415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgagcccttcaaagagatGctgactgctgcctgcccccg	7	8	10	16	2	1	2	1	1	0	1	2	4	1	2	4	0	5	2	4	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78390415G>A	ENST00000328828.5	+	3	411	c.411G>A	c.(409-411)atG>atA	p.M137I	SH2D7_ENST00000409568.2_Start_Codon_SNP_p.M1I	NM_001101404.1	NP_001094874.1	A6NKC9	SH2D7_HUMAN	SH2 domain containing 7	137	SH2.		M -> T (in dbSNP:rs2289524).							endometrium(2)|kidney(2)|lung(3)	7						TCAAAGAGATGCTGACTGCTG	0.622													A	78390415	G	A	78390415	3	1	364	1	0	0	0	0	1	0	0	0	14332	1319	46	2	421	2	SH2D7	15	78390415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72754	78390415	24140977	11178	34680											
ACSBG1	23205	broad.mit.edu	37	chr15	78473133	78473133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttctgctccaaggtcaccGacatggcccacagcagcatc	9	7	10	15	1	2	0	1	0	1	0	4	1	3	0	3	3	3	4	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78473133G>A	ENST00000258873.4	-	9	1422	c.1217C>T	c.(1216-1218)tCg>tTg	p.S406L	ACSBG1_ENST00000560817.1_Missense_Mutation_p.S164L|ACSBG1_ENST00000541759.1_Missense_Mutation_p.S164L	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	406					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAAGGTCACCGACATGGCCCA	0.637													A	78473133	G	A	78473133	3	1	364	1	0	0	0	0	1	0	0	0	173	1059	37	1	981	1	ACSBG1	15	78473133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82718	78473133	24058259	11179	34681											
ACSBG1	23205	broad.mit.edu	37	chr15	78474911	78474911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtcaatgatggcgtccAgggcttcctcaggcacttca	7	10	13	11	1	3	1	3	1	0	0	5	1	5	1	2	4	0	2	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78474911A>G	ENST00000258873.4	-	7	996	c.791T>C	c.(790-792)cTg>cCg	p.L264P	ACSBG1_ENST00000560817.1_Missense_Mutation_p.L22P|ACSBG1_ENST00000541759.1_Missense_Mutation_p.L22P	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	264					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GATGGCGTCCAGGGCTTCCTC	0.587													G	78474911	A	G	78474911	3	3	364	1	0	0	0	0	1	0	0	0	173	188	7	3	1415	3	ACSBG1	15	78474911	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1778	78474911	24056481	11180	34682											
ACSBG1	23205	broad.mit.edu	37	chr15	78526740	78526740	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatttttcttgggtggtcCtcacaatcatgtcctgccgg	6	15	9	11	1	4	0	3	0	1	0	6	0	6	0	3	3	1	0	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78526740C>A	ENST00000541759.1	-	0	127				ACSBG1_ENST00000558828.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000258873.4_Missense_Mutation_p.R35M			Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1						long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TTGGGTGGTCCTCACAATCAT	0.552													A	78526740	C	A	78526740	1	1	364	1	0	0	0	0	0	0	0	0	173	681	24	4		4	ACSBG1	15	78526740	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51829	78526740	24004652	11181	34683											
IREB2	3658	broad.mit.edu	37	chr15	78730683	78730683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taatatggtctccggcgatgGacgccccaaaagcaggtcag	11	7	12	11	3	2	0	1	0	1	0	3	2	2	1	3	4	1	1	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78730683G>A	ENST00000258886.8	+	1	153	c.4G>A	c.(4-6)Gac>Aac	p.D2N	IREB2_ENST00000560440.1_Missense_Mutation_p.D2N	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	2							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TCCGGCGATGGACGCCCCAAA	0.657													A	78730683	G	A	78730683	3	1	364	1	0	0	0	0	1	0	0	0	7884	1174	41	2	6	2	IREB2	15	78730683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203943	78730683	23800709	11182	34684											
IREB2	3658	broad.mit.edu	37	chr15	78783036	78783036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggagactctgtcacaacaGatcatatatcacctgcagga	13	9	9	10	0	4	2	3	0	1	2	4	4	4	3	1	2	2	1	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78783036G>A	ENST00000258886.8	+	18	2406	c.2257G>A	c.(2257-2259)Gat>Aat	p.D753N		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	753							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	p.D753N(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGTCACAACAGATCATATATC	0.403													A	78783036	G	A	78783036	3	1	364	1	0	0	0	0	1	0	0	0	7884	942	33	2	2327	2	IREB2	15	78783036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52353	78783036	23748356	11183	34685											
PSMA4	5685	broad.mit.edu	37	chr15	78834894	78834894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgtttgggaattttagCaaatgatggtgttttgcttg	8	17	11	5	0	0	1	0	1	0	0	0	2	0	2	1	2	2	4	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78834894C>T	ENST00000044462.7	+	4	266	c.116C>T	c.(115-117)gCa>gTa	p.A39V	PSMA4_ENST00000560217.1_Intron|PSMA4_ENST00000559082.1_Missense_Mutation_p.A39V|PSMA4_ENST00000557929.1_3'UTR|PSMA4_ENST00000558341.1_Missense_Mutation_p.A39V|PSMA4_ENST00000558281.1_Missense_Mutation_p.A39V|PSMA4_ENST00000413382.2_Intron	NM_002789.4	NP_002780.1	P25789	PSA4_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 4	39					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9						GGAATTTTAGCAAATGATGGT	0.393													T	78834894	C	T	78834894	3	4	364	1	0	0	0	0	1	0	0	0	12754	710	25	2	126	2	PSMA4	15	78834894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51858	78834894	23696498	11184	34686											
CHRNA5	1138	broad.mit.edu	37	chr15	78882475	78882475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttactcatttgtaatcaagCgcctgcctctcttttatacc	8	16	4	13	1	3	0	2	0	1	0	4	0	3	0	3	0	4	1	3	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78882475C>T	ENST00000299565.5	+	5	942	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	RP11-650L12.2_ENST00000567141.1_RNA|CHRNA5_ENST00000559554.1_Intron	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	248					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						TGTAATCAAGCGCCTGCCTCT	0.408													T	78882475	C	T	78882475	3	4	364	1	0	0	0	0	1	0	0	0	3416	768	27	1	760	1	CHRNA5	15	78882475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47581	78882475	23648917	11185	34687											
CHRNA3	1136	broad.mit.edu	37	chr15	78893832	78893832	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcctttggactctgcgcgGctgaagcaattcagatttga	9	11	11	10	2	2	3	1	2	1	1	2	4	2	4	1	2	3	2	1	2	2	3	rs76643872		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78893832G>A	ENST00000326828.5	-	5	1536	c.1152C>T	c.(1150-1152)agC>agT	p.S384S	CHRNA3_ENST00000348639.3_Silent_p.S384S	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	384					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACTCTGCGCGGCTGAAGCAAT	0.567													A	78893832	G	A	78893832	2	1	364	1	0	0	0	0	0	0	0	1	3414	1194	42	2		2	CHRNA3	15	78893832	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11357	78893832	23637560	11186	34688											
CHRNA3	1136	broad.mit.edu	37	chr15	78894311	78894311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgtcggggtagatctcctCgcagcagttgtacttgatgt	7	13	13	8	2	1	2	0	1	1	1	4	3	1	2	1	2	2	5	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78894311C>T	ENST00000326828.5	-	5	1057	c.673G>A	c.(673-675)Gag>Aag	p.E225K	CHRNA3_ENST00000348639.3_Missense_Mutation_p.E225K	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	225					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						TAGATCTCCTCGCAGCAGTTG	0.547													T	78894311	C	T	78894311	3	4	364	1	0	0	0	0	1	0	0	0	3414	893	31	1	937	1	CHRNA3	15	78894311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	479	78894311	23637081	11187	34689											
CHRNB4	1143	broad.mit.edu	37	chr15	78921563	78921563	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcacgcatgacttgctggGcgggaaggctctggccgggc	5	7	18	11	3	2	1	1	1	1	0	2	2	2	2	1	6	1	3	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78921563G>T	ENST00000261751.3	-	5	1195	c.1084C>A	c.(1084-1086)Ccc>Acc	p.P362T	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	362					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						GACTTGCTGGGCGGGAAGGCT	0.637													T	78921563	G	T	78921563	3	4	364	1	0	0	0	0	1	0	0	0	3423	1203	42	4	420	4	CHRNB4	15	78921563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27252	78921563	23609829	11188	34690											
CHRNB4	1143	broad.mit.edu	37	chr15	78923638	78923638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcacttacctgtttcaGccagacattggtggtcatga	9	11	11	10	0	2	2	2	1	0	1	2	2	2	2	2	3	2	2	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:78923638G>T	ENST00000261751.3	-	3	352	c.241C>A	c.(241-243)Ctg>Atg	p.L81M	CHRNB4_ENST00000412074.2_Missense_Mutation_p.L81M|CHRNB4_ENST00000560511.1_5'UTR	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	81					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						ACCTGTTTCAGCCAGACATTG	0.552													T	78923638	G	T	78923638	3	4	364	1	0	0	0	0	1	0	0	0	3423	962	34	4	1271	4	CHRNB4	15	78923638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2075	78923638	23607754	11189	34691											
ADAMTS7	11173	broad.mit.edu	37	chr15	79059357	79059357	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcattggtgcagaggacatTtcggcgctgagtgccctccc	6	10	13	12	2	1	2	1	1	0	1	3	3	2	3	2	3	2	2	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79059357T>G	ENST00000388820.4	-	19	3106	c.2896A>C	c.(2896-2898)Aat>Cat	p.N966H	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	966	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CAGAGGACATTTCGGCGCTGA	0.667													G	79059357	T	G	79059357	3	3	364	1	0	0	0	0	1	0	0	0	271	1841	64	5	2188	5	ADAMTS7	15	79059357	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135719	79059357	23472035	11190	34692											
ADAMTS7	11173	broad.mit.edu	37	chr15	79060602	79060602	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacattctgcctctgcacacCtaggggccacggggctcagc	7	7	11	16	1	3	0	1	0	2	0	3	0	3	0	3	4	3	2	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79060602C>A	ENST00000388820.4	-	17	2729		c.e17-1		ADAMTS7_ENST00000566303.1_Splice_Site	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CTCTGCACACCTAGGGGCCAC	0.647													A	79060602	C	A	79060602	5	1	364	1	0	0	0	0	0	0	1	0	271	695	24	4	2574	4	ADAMTS7	15	79060602	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1245	79060602	23470790	11191	34693											
RASGRF1	5923	broad.mit.edu	37	chr15	79294017	79294018	+	Frame_Shift_Ins	INS	-	-	T																															ttgtacctgaagaatttttgINStttttgactgatttgggtgt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79294017_79294018insT	ENST00000419573.3	-	17	2883_2884	c.2609_2610insA	c.(2608-2610)aacfs	p.N870fs	RASGRF1_ENST00000558480.2_Frame_Shift_Ins_p.N854fs|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000394745.3_Frame_Shift_Ins_p.N86fs	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	872					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGAATTTTTGTTTTTGACTGA	0.411													T	79294018	-	T	79294017	7	5	364	1	0	1	1	0	0	0	0	0	13160	1368	48	0	1259	0	RASGRF1	15	79294017	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	233415	79294017	23237375	11192	34694											
RASGRF1	5923	broad.mit.edu	37	chr15	79317730	79317730	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaacaggaagcactgtcGctcgccctctttctttaggg	10	10	10	11	2	2	1	0	0	2	1	4	2	2	2	1	2	2	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79317730G>A	ENST00000419573.3	-	10	1742	c.1468C>T	c.(1468-1470)Cga>Tga	p.R490*	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Nonsense_Mutation_p.R490*	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	490	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAGCACTGTCGCTCGCCCTCT	0.557													A	79317730	G	A	79317730	4	1	364	1	0	0	0	0	0	1	0	0	13160	1095	38	1	2429	1	RASGRF1	15	79317730	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23713	79317730	23213662	11193	34695											
RASGRF1	5923	broad.mit.edu	37	chr15	79324528	79324528	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcagtcaggcttggcctcGtagtgcttcagcagcttgtc	5	12	12	12	2	2	0	2	0	0	0	5	0	2	0	1	2	3	6	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79324528G>A	ENST00000419573.3	-	7	1363	c.1089C>T	c.(1087-1089)taC>taT	p.Y363Y	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.Y363Y	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	363	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCTTGGCCTCGTAGTGCTTCA	0.602													A	79324528	G	A	79324528	2	1	364	1	0	0	0	0	0	0	0	1	13160	1140	40	1		1	RASGRF1	15	79324528	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6798	79324528	23206864	11194	34696											
RASGRF1	5923	broad.mit.edu	37	chr15	79339118	79339118	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctgctgacgtcgtcgTgtgtgatgggaggcttcttg	5	13	16	7	3	1	3	0	2	1	1	3	4	1	4	0	2	2	3	0	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79339118T>C	ENST00000419573.3	-	5	1122	c.848A>G	c.(847-849)cAc>cGc	p.H283R	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.H283R	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	283	DH.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GACGTCGTCGTGTGTGATGGG	0.582													C	79339118	T	C	79339118	3	2	364	1	0	0	0	0	1	0	0	0	13160	1696	59	3	3069	3	RASGRF1	15	79339118	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14590	79339118	23192274	11195	34697											
RASGRF1	5923	broad.mit.edu	37	chr15	79350824	79350824	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggcgagggtcctgtagCtgtggacagatggacatggc	7	9	17	8	1	0	1	0	0	0	1	1	4	1	3	1	5	1	2	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79350824C>T	ENST00000419573.3	-	3	658		c.e3-1		RASGRF1_ENST00000560334.1_Splice_Site|RASGRF1_ENST00000558480.2_Splice_Site	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1						activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTCCTGTAGCTGTGGACAGA	0.587													T	79350824	C	T	79350824	5	4	364	1	0	0	0	0	0	0	1	0	13160	811	28	2	3542	2	RASGRF1	15	79350824	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11706	79350824	23180568	11196	34698											
RASGRF1	5923	broad.mit.edu	37	chr15	79382709	79382709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaggttctgcagcagcgcGaaccacttggtttgccattt	8	11	11	11	2	1	0	0	0	1	0	1	1	1	0	2	2	6	5	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79382709G>A	ENST00000419573.3	-	1	406	c.132C>T	c.(130-132)ttC>ttT	p.F44F	RASGRF1_ENST00000558480.2_Silent_p.F44F	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	44	PH 1.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCAGCAGCGCGAACCACTTGG	0.642													A	79382709	G	A	79382709	2	1	364	1	0	0	0	0	0	0	0	1	13160	1049	37	1		1	RASGRF1	15	79382709	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31885	79382709	23148683	11197	34699											
KIAA1024	23251	broad.mit.edu	37	chr15	79748643	79748643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactgagaagtgtgctcttcTacacagcttgtctcgatccc	9	12	8	12	1	3	1	0	1	3	1	5	3	4	1	1	0	4	2	1	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:79748643T>C	ENST00000305428.3	+	2	229	c.154T>C	c.(154-156)Tac>Cac	p.Y52H		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	52						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGTGCTCTTCTACACAGCTTG	0.468													C	79748643	T	C	79748643	3	2	364	1	0	0	0	0	1	0	0	0	8263	1522	53	3	156	3	KIAA1024	15	79748643	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	365934	79748643	22782749	11198	34700											
MTHFS	10588	broad.mit.edu	37	chr15	80137593	80137593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaaggacttcatctacctTcatgtcgttttcattcactg	9	16	6	10	1	5	0	4	0	1	0	6	1	5	1	1	1	1	2	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80137593T>C	ENST00000258874.3	-	3	631	c.571A>G	c.(571-573)Aag>Gag	p.K191E	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.K167E	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	191					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		TCATCTACCTTCATGTCGTTT	0.433													C	80137593	T	C	80137593	3	2	364	1	0	0	0	0	1	0	0	0	10008	1792	62	3	44	3	MTHFS	15	80137593	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	388950	80137593	22393799	11199	34701											
MTHFS	10588	broad.mit.edu	37	chr15	80181638	80181638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtctcaatttcatctTgcatgctcagaaagatggaa	11	14	7	9	0	5	2	3	0	3	2	6	3	5	3	0	1	2	2	0	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80181638T>C	ENST00000258874.3	-	2	236	c.176A>G	c.(175-177)cAa>cGa	p.Q59R	ST20-MTHFS_ENST00000479961.1_Missense_Mutation_p.Q35R|ST20-MTHFS_ENST00000494999.1_5'UTR|MTHFS_ENST00000559722.1_5'UTR	NM_006441.3	NP_006432.1	P49914	MTHFS_HUMAN	5,10-methenyltetrahydrofolate synthetase (5-formyltetrahydrofolate cyclo-ligase)	59					folic acid-containing compound biosynthetic process|formate metabolic process|tetrahydrofolate metabolic process	cytosol|Golgi apparatus|plasma membrane	5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|folic acid binding			endometrium(3)|large_intestine(1)|liver(1)	5				all cancers(203;0.00467)		AATTTCATCTTGCATGCTCAG	0.393													C	80181638	T	C	80181638	3	2	364	1	0	0	0	0	1	0	0	0	10008	1812	63	3	443	3	MTHFS	15	80181638	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	44045	80181638	22349754	11200	34702											
ZFAND6	54469	broad.mit.edu	37	chr15	80423623	80423623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcatgtgcaggaagaaaGtgggacttactggtaaggac	12	10	14	5	0	1	1	1	0	0	1	1	4	1	4	0	4	2	3	0	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80423623G>A	ENST00000261749.6	+	6	888	c.466G>A	c.(466-468)Gtg>Atg	p.V156M	ZFAND6_ENST00000559775.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559157.1_Missense_Mutation_p.V144M|ZFAND6_ENST00000561060.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558494.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000559835.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558087.1_Missense_Mutation_p.V156M|ZFAND6_ENST00000558688.1_Missense_Mutation_p.V156M	NM_001242913.1|NM_001242914.1|NM_019006.3	NP_001229842.1|NP_001229843.1|NP_061879.2	Q6FIF0	ZFAN6_HUMAN	zinc finger, AN1-type domain 6	156							DNA binding|zinc ion binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)	11						CAGGAAGAAAGTGGGACTTAC	0.348													A	80423623	G	A	80423623	3	1	364	1	0	0	0	0	1	0	0	0	17732	1029	36	2	480	2	ZFAND6	15	80423623	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241985	80423623	22107769	11201	34703											
ARNT2	9915	broad.mit.edu	37	chr15	80873696	80873696	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccagctacctcctcGccaagtgggaatgcctactc	8	8	8	17	1	0	0	0	0	0	0	4	1	2	1	6	1	5	1	6	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:80873696G>A	ENST00000533983.1	+	18	2175	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	ARNT2_ENST00000527771.1_Silent_p.S612S|ARNT2_ENST00000303329.4_Silent_p.S623S			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	623					central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			CTACCTCCTCGCCAAGTGGGA	0.577													A	80873696	G	A	80873696	2	1	364	1	0	0	0	0	0	0	0	1	971	1074	38	1		1	ARNT2	15	80873696	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450073	80873696	21657696	11202	34704											
KIAA1199	57214	broad.mit.edu	37	chr15	81212433	81212433	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctgtcttgacccctgcAgatcaaggacgttgtgggct	7	10	11	13	1	2	2	1	1	1	1	2	3	2	3	4	2	1	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81212433A>G	ENST00000394685.3	+	15	2216		c.e15-1		KIAA1199_ENST00000356249.5_Splice_Site|KIAA1199_ENST00000220244.3_Splice_Site|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199											breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						TGACCCCTGCAGATCAAGGAC	0.483													G	81212433	A	G	81212433	5	3	364	1	0	0	0	0	0	0	1	0	8271	202	7	3	1846	3	KIAA1199	15	81212433	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	338737	81212433	21318959	11203	34705											
KIAA1199	57214	broad.mit.edu	37	chr15	81234667	81234667	+	Missense_Mutation	SNP	G	G	A																															tccacctctggaacgacttcGcttacattgaagtaagtgcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234667G>A	ENST00000394685.3	+	27	4107	c.3688G>A	c.(3688-3690)Gct>Act	p.A1230T	KIAA1199_ENST00000356249.5_Missense_Mutation_p.A1230T|KIAA1199_ENST00000220244.3_Missense_Mutation_p.A1230T|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1230										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						GAACGACTTCGCTTACATTGA	0.483													A	81234667	G	A	81234667	3	1	364	1	0	0	0	0	1	0	0	0	8271	1087	38	1	3786	1	KIAA1199	15	81234667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22234	81234667	21296725	11204	34706	98	2									
KIAA1199	57214	broad.mit.edu	37	chr15	81234672	81234672	+	Silent	SNP	C	C	T																															ctctggaacgacttcgcttaCattgaagtaagtgcctctgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81234672C>T	ENST00000394685.3	+	27	4112	c.3693C>T	c.(3691-3693)taC>taT	p.Y1231Y	KIAA1199_ENST00000356249.5_Silent_p.Y1231Y|KIAA1199_ENST00000220244.3_Silent_p.Y1231Y|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	K1199_HUMAN	KIAA1199	1231										breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						ACTTCGCTTACATTGAAGTAA	0.493													T	81234672	C	T	81234672	2	4	364	1	0	0	0	0	0	0	0	1	8271	489	17	2		2	KIAA1199	15	81234672	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5	81234672	21296720	11205	34707	98	2									
C15orf26	161502	broad.mit.edu	37	chr15	81429027	81429027	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacgaattagaggtaccCtgtggcctgagcgcagttca	12	8	12	9	2	1	3	1	1	0	2	1	4	1	3	2	2	2	3	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81429027C>A	ENST00000286732.4	+	3	413	c.330C>A	c.(328-330)ccC>ccA	p.P110P		NM_173528.2	NP_775799.2	Q6P656	CO026_HUMAN	chromosome 15 open reading frame 26	110										endometrium(1)|kidney(4)|large_intestine(5)|lung(6)|skin(1)	17						TAGAGGTACCCTGTGGCCTGA	0.433													A	81429027	C	A	81429027	2	1	364	1	0	0	0	0	0	0	0	1	1800	668	24	4		4	C15orf26	15	81429027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194355	81429027	21102365	11206	34708											
IL16	3603	broad.mit.edu	37	chr15	81517878	81517878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcctgatccctttgaGatttccttggcccagggcaa	10	12	8	11	0	0	2	0	2	0	1	3	3	3	2	4	2	0	1	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81517878G>T	ENST00000394660.2	+	2	498	c.138G>T	c.(136-138)gaG>gaT	p.E46D	IL16_ENST00000302987.4_Missense_Mutation_p.E46D	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	46					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						ATCCCTTTGAGATTTCCTTGG	0.522													T	81517878	G	T	81517878	3	4	364	1	0	0	0	0	1	0	0	0	7691	933	33	4	140	4	IL16	15	81517878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88851	81517878	21013514	11207	34709											
IL16	3603	broad.mit.edu	37	chr15	81565500	81565501	+	Frame_Shift_Ins	INS	-	-	T																															tgggatttacgtcaaaaccaINStttttgcagggggagcagca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81565500_81565501insT	ENST00000394660.2	+	6	1105_1106	c.745_746insT	c.(745-747)attfs	p.I249fs	IL16_ENST00000302987.4_Frame_Shift_Ins_p.I249fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	249	Interaction with GRIN2A.|PDZ 1.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CGTCAAAACCATTTTTGCAGGG	0.51													T	81565501	-	T	81565500	7	5	364	1	0	1	1	0	0	0	0	0	7691	217	8	0	763	0	IL16	15	81565500	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	47622	81565500	20965892	11208	34710											
IL16	3603	broad.mit.edu	37	chr15	81593699	81593699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagcctttcagagctgaGagaatatacagagggtctca	14	9	11	7	0	2	5	2	2	1	3	3	6	2	5	1	1	3	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:81593699G>T	ENST00000394660.2	+	15	3524	c.3164G>T	c.(3163-3165)aGa>aTa	p.R1055I	IL16_ENST00000394652.2_Missense_Mutation_p.R354I|IL16_ENST00000302987.4_Missense_Mutation_p.R1055I	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1055	Interaction with HTLV-1 tax.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						TCAGAGCTGAGAGAATATACA	0.438													T	81593699	G	T	81593699	3	4	364	1	0	0	0	0	1	0	0	0	7691	942	33	4	3218	4	IL16	15	81593699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28199	81593699	20937693	11209	34711											
EFTUD1	79631	broad.mit.edu	37	chr15	82443885	82443885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcacttgcagtgcataGcgacatgcttctttcatggt	7	15	10	9	1	3	0	2	0	1	0	3	1	3	0	0	2	4	4	0	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82443885G>A	ENST00000268206.7	-	18	3078	c.2910C>T	c.(2908-2910)cgC>cgT	p.R970R	EFTUD1_ENST00000359445.3_Silent_p.R919R	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	970					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						GCAGTGCATAGCGACATGCTT	0.473													A	82443885	G	A	82443885	2	1	364	1	0	0	0	0	0	0	0	1	4999	958	34	2		2	EFTUD1	15	82443885	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	850186	82443885	20087507	11210	34712											
FAM154B	283726	broad.mit.edu	37	chr15	82563946	82563946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatttatatatttcaggtCggattattgtccttatgaaa	13	17	6	5	1	1	1	1	1	0	0	3	2	2	2	1	2	0	0	1	2	7	8	rs145916991		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82563946C>T	ENST00000339465.5	+	2	125	c.56C>T	c.(55-57)tCg>tTg	p.S19L	FAM154B_ENST00000427381.2_Missense_Mutation_p.S4L|FAM154B_ENST00000565432.1_Missense_Mutation_p.S32L|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	19								p.S19L(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						TATTTCAGGTCGGATTATTGT	0.323													T	82563946	C	T	82563946	3	4	364	1	0	0	0	0	1	0	0	0	5509	893	31	1	62	1	FAM154B	15	82563946	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120061	82563946	19967446	11211	34713											
FAM154B	283726	broad.mit.edu	37	chr15	82574798	82574798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcattggtgaaactgcaaaaCtctgcagacctgtacacacc	13	9	7	12	0	2	2	1	1	1	1	2	2	2	2	2	1	5	3	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:82574798C>T	ENST00000339465.5	+	3	661	c.592C>T	c.(592-594)Ctc>Ttc	p.L198F	FAM154B_ENST00000427381.2_Missense_Mutation_p.L183F|FAM154B_ENST00000565501.1_3'UTR	NM_001008226.1	NP_001008227.1	Q658L1	F154B_HUMAN	family with sequence similarity 154, member B	198										autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)	19						AACTGCAAAACTCTGCAGACC	0.463													T	82574798	C	T	82574798	3	4	364	1	0	0	0	0	1	0	0	0	5509	565	20	2	602	2	FAM154B	15	82574798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10852	82574798	19956594	11212	34714											
CPEB1	64506	broad.mit.edu	37	chr15	83215914	83215914	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctttgtgaacttggtggtTttgatctccacaaaagcagc	9	15	9	8	0	2	2	0	2	2	0	3	2	2	2	1	2	3	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83215914T>G	ENST00000563800.1	-	10	3279	c.1554A>C	c.(1552-1554)aaA>aaC	p.K518N	CPEB1_ENST00000564522.1_Missense_Mutation_p.K416N|CPEB1_ENST00000568128.1_Missense_Mutation_p.K491N|CPEB1_ENST00000450751.2_Missense_Mutation_p.K416N|CPEB1_ENST00000261723.6_Missense_Mutation_p.K494N|CPEB1_ENST00000423133.2_Missense_Mutation_p.K416N|CPEB1_ENST00000398592.2_Missense_Mutation_p.K265N|RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Missense_Mutation_p.K416N|CPEB1_ENST00000562019.1_Missense_Mutation_p.K496N|CPEB1_ENST00000398591.2_Missense_Mutation_p.K421N|RP11-152F13.10_ENST00000562833.1_Missense_Mutation_p.K226T			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	496	Necessary for stress granule assembly and correct localization in dcp1 bodies.				mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			ACTTGGTGGTTTTGATCTCCA	0.493													G	83215914	T	G	83215914	3	3	364	1	0	0	0	0	1	0	0	0	3831	1838	64	5	224	5	CPEB1	15	83215914	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	641116	83215914	19315478	11213	34715											
CPEB1	64506	broad.mit.edu	37	chr15	83296017	83296017	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatccagagaattatccaaTatggcatttatccttcgaaa	16	12	5	8	1	0	1	0	0	0	1	4	3	3	1	3	1	0	1	3	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296017T>C	ENST00000568757.1	-	0	324				CPEB1_ENST00000563800.1_Missense_Mutation_p.I66M|CPEB1_ENST00000568128.1_Missense_Mutation_p.I39M|CPEB1_ENST00000450751.2_De_novo_Start_InFrame|CPEB1_ENST00000562019.1_Missense_Mutation_p.I39M			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1						mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			AATTATCCAATATGGCATTTA	0.408													C	83296017	T	C	83296017	1	2	364	1	0	0	0	0	0	0	0	0	3831	1396	49	3		3	CPEB1	15	83296017	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80103	83296017	19235375	11214	34716											
CPEB1	64506	broad.mit.edu	37	chr15	83296072	83296072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacacgtggagagagcaggtGcttcctggttgtcccagcaa	9	9	13	10	1	0	1	0	0	0	1	2	3	2	2	2	3	4	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83296072G>A	ENST00000563800.1	-	2	1868	c.143C>T	c.(142-144)gCa>gTa	p.A48V	CPEB1_ENST00000568128.1_Missense_Mutation_p.A21V|CPEB1_ENST00000568757.1_5'UTR|CPEB1_ENST00000450751.2_5'UTR|CPEB1_ENST00000562019.1_Missense_Mutation_p.A21V			Q9BZB8	CPEB1_HUMAN	cytoplasmic polyadenylation element binding protein 1	21					mRNA processing|regulation of translation	cell junction|cytoplasmic mRNA processing body|dendrite|postsynaptic density|postsynaptic membrane	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(1)|lung(9)|ovary(1)|skin(1)	28			BRCA - Breast invasive adenocarcinoma(143;0.229)			GAGAGCAGGTGCTTCCTGGTT	0.403													A	83296072	G	A	83296072	3	1	364	1	0	0	0	0	1	0	0	0	3831	1319	46	2	1682	2	CPEB1	15	83296072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55	83296072	19235320	11215	34717											
FSD2	123722	broad.mit.edu	37	chr15	83455764	83455764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggtcctcggcctccgCtgcctctccactaagtctcc	4	9	8	20	2	2	0	0	0	2	0	7	0	4	0	7	2	1	1	7	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83455764C>T	ENST00000334574.8	-	2	560	c.379G>A	c.(379-381)Gcg>Acg	p.A127T	FSD2_ENST00000541889.1_Missense_Mutation_p.A127T			A1L4K1	FSD2_HUMAN	fibronectin type III and SPRY domain containing 2	127										breast(2)|central_nervous_system(1)|large_intestine(5)|lung(10)	18						TCGGCCTCCGCTGCCTCTCCA	0.587													T	83455764	C	T	83455764	3	4	364	1	0	0	0	0	1	0	0	0	6123	797	28	2	1918	2	FSD2	15	83455764	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159692	83455764	19075628	11216	34718											
BTBD1	53339	broad.mit.edu	37	chr15	83725176	83725176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcattatctgccctaaGatgtttggtgagaaattcta	13	13	9	6	0	2	2	0	1	2	2	2	3	2	2	1	2	1	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83725176G>T	ENST00000261721.4	-	2	725	c.523C>A	c.(523-525)Ctt>Att	p.L175I	BTBD1_ENST00000379403.2_Missense_Mutation_p.L175I|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	175						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		TCTGCCCTAAGATGTTTGGTG	0.368													T	83725176	G	T	83725176	3	4	364	1	0	0	0	0	1	0	0	0	1546	942	33	4	953	4	BTBD1	15	83725176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269412	83725176	18806216	11217	34719											
TM6SF1	53346	broad.mit.edu	37	chr15	83784642	83784642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgtggtgaacctcatcatagGactggagcaagatggaatca	13	8	12	8	1	3	2	3	1	0	1	3	5	3	5	1	4	2	1	1	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83784642G>A	ENST00000322019.9	+	3	516	c.242G>A	c.(241-243)gGa>gAa	p.G81E	TM6SF1_ENST00000564988.1_3'UTR|TM6SF1_ENST00000379390.6_Missense_Mutation_p.G81E|TM6SF1_ENST00000379386.4_Missense_Mutation_p.G81E|TM6SF1_ENST00000565774.1_Missense_Mutation_p.G81E			Q9BZW5	TM6S1_HUMAN	transmembrane 6 superfamily member 1	81						integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	15						CTCATCATAGGACTGGAGCAA	0.423													A	83784642	G	A	83784642	3	1	364	1	0	0	0	0	1	0	0	0	16072	1174	41	2	252	2	TM6SF1	15	83784642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59466	83784642	18746750	11218	34720											
BNC1	646	broad.mit.edu	37	chr15	83931981	83931981	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccagcaggcgctgctgCagttccatgtagtcagaaaa	11	7	11	12	1	1	1	1	0	0	1	2	1	2	1	3	1	4	6	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:83931981C>T	ENST00000345382.2	-	4	2107	c.2022G>A	c.(2020-2022)ctG>ctA	p.L674L	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Silent_p.L667L	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	674					epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GGCGCTGCTGCAGTTCCATGT	0.522													T	83931981	C	T	83931981	2	4	364	1	0	0	0	0	0	0	0	1	1480	697	25	2		2	BNC1	15	83931981	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147339	83931981	18599411	11219	34721											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84442351	84442351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgactggagtgactgctcccGgacctgtgggggaggagcat	7	7	17	10	2	0	1	0	1	0	0	1	6	1	5	2	5	2	2	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84442351G>A	ENST00000286744.5	+	4	490	c.266G>A	c.(265-267)cGg>cAg	p.R89Q	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R89Q	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	89	TSP type-1 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			GACTGCTCCCGGACCTGTGGG	0.507													A	84442351	G	A	84442351	3	1	364	1	0	0	0	0	1	0	0	0	276	1116	39	1	276	1	ADAMTSL3	15	84442351	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	510370	84442351	18089041	11220	34722											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84581936	84581936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgtgctcctcacattcaCgcagactgagactgagctgc	8	9	10	14	2	2	3	2	2	0	2	3	4	3	3	2	0	3	3	2	0	0	1	rs139144597		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84581936C>T	ENST00000286744.5	+	16	2017	c.1793C>T	c.(1792-1794)aCg>aTg	p.T598M	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.T598M	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	598	TSP type-1 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACATTCACGCAGACTGAG	0.622													T	84581936	C	T	84581936	3	4	364	1	0	0	0	0	1	0	0	0	276	536	19	1	1851	1	ADAMTSL3	15	84581936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139585	84581936	17949456	11221	34723											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84657498	84657498	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatcctacaaggaaagaaCaaggcatatatgaatgttct	18	9	8	6	0	1	3	0	1	1	2	2	4	2	4	1	2	2	2	1	2	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84657498C>T	ENST00000286744.5	+	22	3996	c.3772C>T	c.(3772-3774)Caa>Taa	p.Q1258*	ADAMTSL3_ENST00000567476.1_Nonsense_Mutation_p.Q1258*	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1258	Ig-like C2-type 2.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AAGGAAAGAACAAGGCATATA	0.363													T	84657498	C	T	84657498	4	4	364	1	0	0	0	0	0	1	0	0	276	479	17	2	3854	2	ADAMTSL3	15	84657498	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75562	84657498	17873894	11222	34724											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84706505	84706505	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaaacatcttaatttgTgttctctagaccgctacaaa	13	15	5	8	1	2	1	0	0	2	1	3	1	2	1	1	0	2	3	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:84706505T>G	ENST00000286744.5	+	30	5247	c.5023T>G	c.(5023-5025)Tgt>Ggt	p.C1675G	ADAMTSL3_ENST00000567476.1_Intron	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1675	PLAC.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TCTTAATTTGTGTTCTCTAGA	0.383													G	84706505	T	G	84706505	3	3	364	1	0	0	0	0	1	0	0	0	276	1696	59	5	5137	5	ADAMTSL3	15	84706505	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49007	84706505	17824887	11223	34725											
SEC11A	23478	broad.mit.edu	37	chr15	85230935	85230935	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaacaatttctcccactcGtatgggatcttcaactcgat	12	12	5	12	2	3	0	1	0	2	0	6	2	3	1	1	1	3	1	1	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85230935G>A	ENST00000268220.7	-	3	872	c.232C>T	c.(232-234)Cga>Tga	p.R78*	SEC11A_ENST00000560266.1_Nonsense_Mutation_p.R78*|SEC11A_ENST00000455959.3_Nonsense_Mutation_p.R52*|SEC11A_ENST00000558134.1_Nonsense_Mutation_p.R78*	NM_014300.2	NP_055115.1	P67812	SC11A_HUMAN	SEC11 homolog A (S. cerevisiae)	78					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	protein binding|serine-type peptidase activity			ovary(1)	1			BRCA - Breast invasive adenocarcinoma(143;0.199)			TCTCCCACTCGTATGGGATCT	0.388													A	85230935	G	A	85230935	4	1	364	1	0	0	0	0	0	1	0	0	14071	1153	40	1	323	1	SEC11A	15	85230935	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	524430	85230935	17300457	11224	34726											
ZNF592	9640	broad.mit.edu	37	chr15	85341659	85341659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcttcaagtgccctgagtGcccactcttgttcgtgcaga	6	12	10	13	2	3	2	1	1	2	1	4	2	3	2	2	0	3	2	2	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85341659G>A	ENST00000299927.3	+	4	2712	c.2690G>A	c.(2689-2691)tGc>tAc	p.C897Y	ZNF592_ENST00000560079.2_Missense_Mutation_p.C897Y			Q92610	ZN592_HUMAN	zinc finger protein 592	897					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCTGAGTGCCCACTCTTG	0.567													A	85341659	G	A	85341659	3	1	364	1	0	0	0	0	1	0	0	0	18123	1319	46	2	2704	2	ZNF592	15	85341659	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110724	85341659	17189733	11225	34727											
ZNF592	9640	broad.mit.edu	37	chr15	85342424	85342424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaccatgacacagtaaaGaagttctacacctgcgggtg	15	7	9	10	1	1	2	0	1	1	1	1	2	1	2	2	1	4	2	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85342424G>T	ENST00000299927.3	+	6	3142	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	ZNF592_ENST00000560079.2_Missense_Mutation_p.K1040N			Q92610	ZN592_HUMAN	zinc finger protein 592	1040					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			ACACAGTAAAGAAGTTCTACA	0.547													T	85342424	G	T	85342424	3	4	364	1	0	0	0	0	1	0	0	0	18123	933	33	4	3142	4	ZNF592	15	85342424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	765	85342424	17188968	11226	34728											
ALPK3	57538	broad.mit.edu	37	chr15	85382937	85382937	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctcctacctctaggtgtCgagaagaagatgccgccatc	9	8	10	14	3	1	3	0	0	1	3	4	4	2	3	5	1	2	1	5	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85382937C>T	ENST00000258888.5	+	5	1200	c.1033C>T	c.(1033-1035)Cga>Tga	p.R345*		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	345	Ig-like 1.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTCTAGGTGTCGAGAAGAAGA	0.632													T	85382937	C	T	85382937	4	4	364	1	0	0	0	0	0	1	0	0	546	876	31	1	1051	1	ALPK3	15	85382937	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40513	85382937	17148455	11227	34729											
ALPK3	57538	broad.mit.edu	37	chr15	85400565	85400565	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagccaggaggtacccAcgatgccttctcttcctgga	7	9	11	14	1	1	1	0	1	1	0	3	4	2	3	5	3	3	1	5	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85400565A>G	ENST00000258888.5	+	6	3369	c.3202A>G	c.(3202-3204)Acg>Gcg	p.T1068A		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1068					heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GGAGGTACCCACGATGCCTTC	0.652													G	85400565	A	G	85400565	3	3	364	1	0	0	0	0	1	0	0	0	546	159	6	3	3224	3	ALPK3	15	85400565	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17628	85400565	17130827	11228	34730											
ALPK3	57538	broad.mit.edu	37	chr15	85406145	85406145	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactacgacgtcaccatccAggtactatgtcccatcttca	12	10	5	14	2	3	0	2	0	1	0	5	1	5	0	3	1	3	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85406145A>G	ENST00000258888.5	+	10	5182	c.5015A>G	c.(5014-5016)cAg>cGg	p.Q1672R		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1672	Alpha-type protein kinase.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GTCACCATCCAGGTACTATGT	0.557													G	85406145	A	G	85406145	5	3	364	1	0	0	0	0	0	0	1	0	546	202	7	3	5053	3	ALPK3	15	85406145	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5580	85406145	17125247	11229	34731											
SLC28A1	9154	broad.mit.edu	37	chr15	85478633	85478633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagtggtagctgagctgCtggggatcaagctgtttctg	6	11	15	9	0	2	1	1	1	1	0	2	2	2	2	1	3	4	6	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85478633C>A	ENST00000394573.1	+	15	1667	c.1465C>A	c.(1465-1467)Ctg>Atg	p.L489M	SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000286749.3_Missense_Mutation_p.L489M|SLC28A1_ENST00000537216.1_Missense_Mutation_p.L489M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.L489M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	489					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			AGCTGAGCTGCTGGGGATCAA	0.597													A	85478633	C	A	85478633	3	1	364	1	0	0	0	0	1	0	0	0	14625	796	28	4	1586	4	SLC28A1	15	85478633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72488	85478633	17052759	11230	34732											
PDE8A	5151	broad.mit.edu	37	chr15	85681118	85681118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgaagctgcggaacctccGaccacctcctgaatagtggg	11	7	11	12	2	0	2	0	2	0	0	2	4	2	3	5	2	3	1	5	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:85681118G>A	ENST00000310298.4	+	23	2726	c.2474G>A	c.(2473-2475)cGa>cAa	p.R825Q	PDE8A_ENST00000557957.1_Missense_Mutation_p.R753Q|PDE8A_ENST00000394553.1_Missense_Mutation_p.R825Q|PDE8A_ENST00000339708.5_Missense_Mutation_p.R779Q			O60658	PDE8A_HUMAN	phosphodiesterase 8A	825					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CGGAACCTCCGACCACCTCCT	0.498													A	85681118	G	A	85681118	3	1	364	1	0	0	0	0	1	0	0	0	11729	1058	37	1	2560	1	PDE8A	15	85681118	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202485	85681118	16850274	11231	34733											
AKAP13	11214	broad.mit.edu	37	chr15	86077162	86077163	+	Frame_Shift_Ins	INS	-	-	T																															taagtttgtgatatttctacINStttttttttaatggggctac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86077162_86077163insT	ENST00000560302.1	+	4	699_700	c.529_530insT	c.(529-531)cttfs	p.L177fs	AKAP13_ENST00000361243.2_Intron|AKAP13_ENST00000394518.2_Intron			Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	177					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GATATTTCTACTTTTTTTTTAA	0.396													T	86077163	-	T	86077162	7	5	364	1	0	1	1	0	0	0	0	0	449	580	20	0		0	AKAP13	15	86077162	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	396044	86077162	16454230	11232	34734											
AKAP13	11214	broad.mit.edu	37	chr15	86087014	86087014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttacagatgctggcccgCgagagacattgatgcatttt	10	12	10	9	2	0	3	0	1	0	2	0	5	0	3	1	1	3	2	1	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86087014C>T	ENST00000394518.2	+	5	585	c.490C>T	c.(490-492)Cga>Tga	p.R164*	AKAP13_ENST00000361243.2_Nonsense_Mutation_p.R164*	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	164					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGCTGGCCCGCGAGAGACATT	0.458													T	86087014	C	T	86087014	4	4	364	1	0	0	0	0	0	1	0	0	449	760	27	1	504	1	AKAP13	15	86087014	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9852	86087014	16444378	11233	34735											
AKAP13	11214	broad.mit.edu	37	chr15	86123477	86123477	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgtaagggatacccaGgaacgtgcggatttttgtcc	9	10	12	10	2	0	0	0	0	0	0	1	4	1	3	3	3	3	1	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86123477G>T	ENST00000394518.2	+	7	2273	c.2178G>T	c.(2176-2178)caG>caT	p.Q726H	AKAP13_ENST00000361243.2_Missense_Mutation_p.Q726H	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	726					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGGATACCCAGGAACGTGCGG	0.478													T	86123477	G	T	86123477	3	4	364	1	0	0	0	0	1	0	0	0	449	991	35	4	2200	4	AKAP13	15	86123477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36463	86123477	16407915	11234	34736											
AKAP13	11214	broad.mit.edu	37	chr15	86124819	86124819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagctgtaccatgggtgacGctgaggaagcccaaatagac	13	6	12	10	1	0	3	0	2	0	1	0	4	0	4	2	2	3	3	2	2	4	2	rs147919379		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86124819G>A	ENST00000394518.2	+	7	3615	c.3520G>A	c.(3520-3522)Gct>Act	p.A1174T	AKAP13_ENST00000361243.2_Missense_Mutation_p.A1174T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1174					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CATGGGTGACGCTGAGGAAGC	0.552													A	86124819	G	A	86124819	3	1	364	1	0	0	0	0	1	0	0	0	449	1087	38	1	3542	1	AKAP13	15	86124819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	86124819	16406573	11235	34737											
AKAP13	11214	broad.mit.edu	37	chr15	86125208	86125208	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagaaaaagtgagtactttCccacctggggagagcctacc	13	7	10	11	0	0	3	0	1	0	2	1	4	1	3	4	2	3	1	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:86125208C>A	ENST00000394518.2	+	7	4004	c.3909C>A	c.(3907-3909)ttC>ttA	p.F1303L	AKAP13_ENST00000361243.2_Missense_Mutation_p.F1303L	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	1303					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						TGAGTACTTTCCCACCTGGGG	0.527													A	86125208	C	A	86125208	3	1	364	1	0	0	0	0	1	0	0	0	449	854	30	4	3931	4	AKAP13	15	86125208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	389	86125208	16406184	11236	34738											
NTRK3	4916	broad.mit.edu	37	chr15	88472533	88472533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtctcggtgcacaaaGtgctgggaggccaggtacac	9	6	15	11	1	1	0	0	0	1	0	2	1	1	1	2	5	3	3	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88472533G>T	ENST00000394480.2	-	17	2343	c.2022C>A	c.(2020-2022)caC>caA	p.H674Q	NTRK3_ENST00000558676.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000542733.2_Missense_Mutation_p.H576Q|NTRK3_ENST00000557856.1_Missense_Mutation_p.H666Q|NTRK3_ENST00000360948.2_Missense_Mutation_p.H674Q|NTRK3_ENST00000355254.2_Missense_Mutation_p.H674Q|NTRK3_ENST00000357724.2_Missense_Mutation_p.H666Q	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3		Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGTGCACAAAGTGCTGGGAGG	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			T	88472533	G	T	88472533	3	4	364	1	0	0	0	0	1	0	0	0	10784	1020	36	4	513	4	NTRK3	15	88472533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2347325	88472533	14058859	11237	34739											
NTRK3	4916	broad.mit.edu	37	chr15	88524540	88524540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgggactagatgatctCtattgtccttcaagtttaat	10	17	8	6	0	2	3	1	2	1	1	4	4	3	4	1	1	0	1	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88524540C>A	ENST00000317501.3	-	14	1798	c.1637G>T	c.(1636-1638)aGa>aTa	p.R546I	NTRK3_ENST00000394480.2_Intron|NTRK3_ENST00000558676.1_Intron|NTRK3_ENST00000542733.2_Intron|NTRK3_ENST00000557856.1_Intron|NTRK3_ENST00000360948.2_Intron|NTRK3_ENST00000355254.2_Intron|NTRK3_ENST00000558306.1_Intron|NTRK3_ENST00000357724.2_Intron|NTRK3_ENST00000540489.2_Missense_Mutation_p.R546I	NM_001007156.2	NP_001007157.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	0	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R546I(1)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			tagatgatctctattgtcctt	0.438			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			A	88524540	C	A	88524540	3	1	364	1	0	0	0	0	1	0	0	0	10784	913	32	4	1168	4	NTRK3	15	88524540	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52007	88524540	14006852	11238	34740											
NTRK3	4916	broad.mit.edu	37	chr15	88678612	88678612	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcaggctcctccaggctCaccacacgtgggggatctgt	7	8	12	14	1	3	0	2	0	1	0	5	1	5	1	3	4	1	3	3	4	0	0	rs145564369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:88678612C>T	ENST00000394480.2	-	10	1245	c.924G>A	c.(922-924)gtG>gtA	p.V308V	NTRK3_ENST00000558676.1_Silent_p.V308V|NTRK3_ENST00000317501.3_Silent_p.V308V|NTRK3_ENST00000542733.2_Silent_p.V210V|NTRK3_ENST00000557856.1_Silent_p.V308V|NTRK3_ENST00000360948.2_Silent_p.V308V|NTRK3_ENST00000355254.2_Silent_p.V308V|NTRK3_ENST00000357724.2_Silent_p.V308V|NTRK3_ENST00000540489.2_Silent_p.V308V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCTCCAGGCTCACCACACGTG	0.592			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			T	88678612	C	T	88678612	2	4	364	1	0	0	0	0	0	0	0	1	10784	813	29	2		2	NTRK3	15	88678612	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154072	88678612	13852780	11239	34741											
MRPL46	26589	broad.mit.edu	37	chr15	89008934	89008934	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgaaggtcagctttcttcTttgccagtcgctggttttca	6	16	9	10	1	4	1	2	1	2	0	5	1	4	1	1	2	2	3	1	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89008934T>G	ENST00000312475.4	-	2	340	c.299A>C	c.(298-300)aAg>aCg	p.K100T		NM_022163.3	NP_071446.2	Q9H2W6	RM46_HUMAN	mitochondrial ribosomal protein L46	100						mitochondrion|ribosome	hydrolase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5	Lung NSC(78;0.203)		BRCA - Breast invasive adenocarcinoma(143;0.188)			AGCTTTCTTCTTTGCCAGTCG	0.423													G	89008934	T	G	89008934	3	3	364	1	0	0	0	0	1	0	0	0	9886	1609	56	5	552	5	MRPL46	15	89008934	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	330322	89008934	13522458	11240	34742											
ACAN	176	broad.mit.edu	37	chr15	89400981	89400981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggccaagcatctgggtCtcctgatgtcagtggggaaa	9	9	14	9	0	3	1	1	1	2	0	4	2	3	2	2	4	1	1	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89400981C>A	ENST00000439576.2	+	12	5539	c.5165C>A	c.(5164-5166)tCt>tAt	p.S1722Y	ACAN_ENST00000352105.7_Missense_Mutation_p.S1722Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S1722Y|ACAN_ENST00000561243.1_Missense_Mutation_p.S1722Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1722					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCATCTGGGTCTCCTGATGTC	0.527													A	89400981	C	A	89400981	3	1	364	1	0	0	0	0	1	0	0	0	117	913	32	4	5207	4	ACAN	15	89400981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392047	89400981	13130411	11241	34743											
ACAN	176	broad.mit.edu	37	chr15	89402488	89402488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagtctgagtggacccaGcagacccagcgccctgcaga	10	4	12	15	1	1	4	0	1	1	3	1	5	1	5	4	1	3	2	4	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89402488G>T	ENST00000439576.2	+	12	7046	c.6672G>T	c.(6670-6672)caG>caT	p.Q2224H	ACAN_ENST00000352105.7_Missense_Mutation_p.Q2224H|ACAN_ENST00000559004.1_Missense_Mutation_p.Q2224H|ACAN_ENST00000561243.1_Missense_Mutation_p.Q2224H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2224					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			AGTGGACCCAGCAGACCCAGC	0.567													T	89402488	G	T	89402488	3	4	364	1	0	0	0	0	1	0	0	0	117	962	34	4	6714	4	ACAN	15	89402488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1507	89402488	13128904	11242	34744											
MFGE8	4240	broad.mit.edu	37	chr15	89442660	89442660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaggcgcagggcgatgCggttgtgccaggctacaggc	6	6	17	12	3	0	0	0	0	0	0	1	1	1	0	2	5	3	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89442660C>T	ENST00000539437.1	-	9	1242	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	MFGE8_ENST00000542878.1_Missense_Mutation_p.R333H|MFGE8_ENST00000268151.7_Missense_Mutation_p.R325H|MFGE8_ENST00000566497.1_Missense_Mutation_p.R377H|MFGE8_ENST00000268150.8_Missense_Mutation_p.R377H			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	377	F5/8 type C 2.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CAGGGCGATGCGGTTGTGCCA	0.622													T	89442660	C	T	89442660	3	4	364	1	0	0	0	0	1	0	0	0	9595	768	27	1	37	1	MFGE8	15	89442660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40172	89442660	13088732	11243	34745											
ABHD2	11057	broad.mit.edu	37	chr15	89659564	89659564	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccccagatcaagatgaaTgccatgctggagactcccga	11	7	10	13	1	1	4	1	1	0	3	3	6	3	4	4	1	2	2	4	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89659564T>C	ENST00000352732.5	+	3	526	c.6T>C	c.(4-6)aaT>aaC	p.N2N	ABHD2_ENST00000565973.1_Silent_p.N2N|ABHD2_ENST00000355100.3_Silent_p.N2N	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	2						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TCAAGATGAATGCCATGCTGG	0.562													C	89659564	T	C	89659564	2	2	364	1	0	0	0	0	0	0	0	1	82	1461	51	3		3	ABHD2	15	89659564	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	216904	89659564	12871828	11244	34746											
ABHD2	11057	broad.mit.edu	37	chr15	89719101	89719101	+	Silent	SNP	C	C	A																															aagaagacatatcccctgacCcagctggtcgtcgtgggctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719101C>A	ENST00000352732.5	+	6	1117	c.597C>A	c.(595-597)acC>acA	p.T199T	ABHD2_ENST00000565973.1_Silent_p.T199T|ABHD2_ENST00000355100.3_Silent_p.T199T	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	199						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATCCCCTGACCCAGCTGGTCG	0.532													A	89719101	C	A	89719101	2	1	364	1	0	0	0	0	0	0	0	1	82	610	22	4		4	ABHD2	15	89719101	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59537	89719101	12812291	11245	34747	99	2									
ABHD2	11057	broad.mit.edu	37	chr15	89719110	89719110	+	Silent	SNP	C	C	T																															tatcccctgacccagctggtCgtcgtgggcttcagcctggg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89719110C>T	ENST00000352732.5	+	6	1126	c.606C>T	c.(604-606)gtC>gtT	p.V202V	ABHD2_ENST00000565973.1_Silent_p.V202V|ABHD2_ENST00000355100.3_Silent_p.V202V	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	202						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					CCCAGCTGGTCGTCGTGGGCT	0.537													T	89719110	C	T	89719110	2	4	364	1	0	0	0	0	0	0	0	1	82	871	31	1		1	ABHD2	15	89719110	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9	89719110	12812282	11246	34748	99	2									
ABHD2	11057	broad.mit.edu	37	chr15	89736483	89736483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatttatgttcctctcatGctggttaatgcagctgacga	9	14	9	9	1	1	2	1	1	1	1	3	3	2	2	1	1	3	5	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89736483G>A	ENST00000352732.5	+	10	1534	c.1014G>A	c.(1012-1014)atG>atA	p.M338I	ABHD2_ENST00000565973.1_Missense_Mutation_p.M338I|ABHD2_ENST00000355100.3_Missense_Mutation_p.M338I	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	338						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					TTCCTCTCATGCTGGTTAATG	0.433													A	89736483	G	A	89736483	3	1	364	1	0	0	0	0	1	0	0	0	82	1319	46	2	1044	2	ABHD2	15	89736483	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17373	89736483	12794909	11247	34749											
FANCI	55215	broad.mit.edu	37	chr15	89804856	89804856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attattggttgaattagccaAtgagtttattagtgctgtca	11	17	9	4	0	1	2	1	2	0	0	1	2	1	2	1	1	2	3	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89804856A>G	ENST00000310775.7	+	5	415	c.329A>G	c.(328-330)aAt>aGt	p.N110S	FANCI_ENST00000300027.8_Missense_Mutation_p.N110S|FANCI_ENST00000451393.2_5'UTR|FANCI_ENST00000567996.1_Missense_Mutation_p.N110S	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	110					cell cycle|DNA repair	nucleoplasm	protein binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GAATTAGCCAATGAGTTTATT	0.383								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	89804856	A	G	89804856	3	3	364	1	0	0	0	0	1	0	0	0	5718	101	4	3	343	3	FANCI	15	89804856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68373	89804856	12726536	11248	34750											
POLG	5428	broad.mit.edu	37	chr15	89865974	89865974	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccatggtggcccaccTgatacgtttatgggcgttcc	5	12	10	14	2	0	1	0	1	0	0	3	1	3	1	5	3	1	2	5	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89865974T>C	ENST00000268124.5	-	14	2758	c.2425A>G	c.(2425-2427)Agc>Ggc	p.S809G	POLG_ENST00000442287.2_Splice_Site_p.S809G	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	809					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			GTGGCCCACCTGATACGTTTA	0.597								DNA polymerases (catalytic subunits)					C	89865974	T	C	89865974	5	2	364	1	0	0	0	0	0	0	1	0	12277	1594	55	3	1334	3	POLG	15	89865974	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61118	89865974	12665418	11249	34751											
POLG	5428	broad.mit.edu	37	chr15	89871701	89871701	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctctccaagaagagCggtagctgctgctggaaaac	11	7	10	13	1	2	2	1	0	1	2	3	3	2	3	3	2	5	4	3	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:89871701C>T	ENST00000268124.5	-	6	1569	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	POLG_ENST00000442287.2_Silent_p.P412P	NM_001126131.1|NM_002693.2	NP_001119603.1|NP_002684.1	P54098	DPOG1_HUMAN	polymerase (DNA directed), gamma	412					base-excision repair, gap-filling|cell death|DNA-dependent DNA replication	mitochondrial nucleoid	DNA binding|DNA-directed DNA polymerase activity|protease binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(3)|urinary_tract(2)	33	Lung NSC(78;0.0472)|all_lung(78;0.089)		STAD - Stomach adenocarcinoma(125;0.165)			CCAAGAAGAGCGGTAGCTGCT	0.602								DNA polymerases (catalytic subunits)					T	89871701	C	T	89871701	2	4	364	1	0	0	0	0	0	0	0	1	12277	755	27	1		1	POLG	15	89871701	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5727	89871701	12659691	11250	34752											
WDR93	56964	broad.mit.edu	37	chr15	90278765	90278765	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtgccgtggccccagTcccagccttacctggcatgg	5	9	11	16	1	1	0	0	0	1	0	2	0	2	0	6	3	3	1	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90278765T>A	ENST00000268130.7	+	14	1690	c.1589T>A	c.(1588-1590)gTc>gAc	p.V530D	WDR93_ENST00000560294.1_Missense_Mutation_p.V502D|WDR93_ENST00000444934.2_Missense_Mutation_p.V247D	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	530					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			GTGGCCCCAGTCCCAGCCTTA	0.443													A	90278765	T	A	90278765	3	1	364	1	0	0	0	0	1	0	0	0	17442	1667	58	5	1639	5	WDR93	15	90278765	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	407064	90278765	12252627	11251	34753											
ANPEP	290	broad.mit.edu	37	chr15	90328653	90328653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttgatgttggctttcGtcttctccagggcttgctcc	3	15	9	14	1	2	1	0	1	2	0	5	1	3	1	3	2	1	4	3	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90328653G>A	ENST00000300060.6	-	21	3144	c.2831C>T	c.(2830-2832)aCg>aTg	p.T944M		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	944	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	GTTGGCTTTCGTCTTCTCCAG	0.547													A	90328653	G	A	90328653	3	1	364	1	0	0	0	0	1	0	0	0	710	1145	40	1	76	1	ANPEP	15	90328653	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49888	90328653	12202739	11252	34754											
ANPEP	290	broad.mit.edu	37	chr15	90347138	90347138	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagttccaggtgggctcCgcatagtcagcacccaggta	10	7	11	13	1	1	0	1	0	0	0	3	0	3	0	4	3	1	5	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90347138C>T	ENST00000300060.6	-	7	1588	c.1275G>A	c.(1273-1275)gcG>gcA	p.A425A		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	425	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	p.A425A(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGGTGGGCTCCGCATAGTCAG	0.632													T	90347138	C	T	90347138	2	4	364	1	0	0	0	0	0	0	0	1	710	639	23	1		1	ANPEP	15	90347138	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18485	90347138	12184254	11253	34755											
ANPEP	290	broad.mit.edu	37	chr15	90349357	90349357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtgggctccaccagctcaGtcttgtcaatgtcggggggc	5	9	15	12	2	3	0	2	0	1	0	5	0	4	0	2	5	1	2	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90349357G>A	ENST00000300060.6	-	2	771	c.458C>T	c.(457-459)aCt>aTt	p.T153I		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	153	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	CACCAGCTCAGTCTTGTCAAT	0.607													A	90349357	G	A	90349357	3	1	364	1	0	0	0	0	1	0	0	0	710	1029	36	2	2525	2	ANPEP	15	90349357	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2219	90349357	12182035	11254	34756											
ZNF710	374655	broad.mit.edu	37	chr15	90610756	90610756	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtttctgtgccaggtgaCgacaaggacgcagggccagc	9	6	16	10	2	1	1	0	1	1	0	1	4	1	2	2	4	2	2	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90610756C>T	ENST00000268154.4	+	2	638	c.387C>T	c.(385-387)gaC>gaT	p.D129D		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			TGCCAGGTGACGACAAGGACG	0.657													T	90610756	C	T	90610756	2	4	364	1	0	0	0	0	0	0	0	1	18216	535	19	1		1	ZNF710	15	90610756	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	261399	90610756	11920636	11255	34757											
ZNF710	374655	broad.mit.edu	37	chr15	90611596	90611596	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggccgctgccatgtctgCgtcgagtgcggcctggactt	4	10	15	12	4	1	0	0	0	1	0	2	2	1	1	3	3	3	1	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90611596C>T	ENST00000268154.4	+	2	1478	c.1227C>T	c.(1225-1227)tgC>tgT	p.C409C		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	409					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			GCCATGTCTGCGTCGAGTGCG	0.652													T	90611596	C	T	90611596	2	4	364	1	0	0	0	0	0	0	0	1	18216	776	27	1		1	ZNF710	15	90611596	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	840	90611596	11919796	11256	34758											
SEMA4B	10509	broad.mit.edu	37	chr15	90770825	90770825	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcgagggagccagcgccaaGgacctttgcagcgcgtcttc	8	7	13	13	4	1	0	0	0	1	0	3	3	1	2	3	2	4	1	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90770825G>T	ENST00000411539.2	+	13	1985	c.1725G>T	c.(1723-1725)aaG>aaT	p.K575N	SEMA4B_ENST00000332496.6_Missense_Mutation_p.K575N|SEMA4B_ENST00000379122.3_Missense_Mutation_p.K570N	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			CCAGCGCCAAGGACCTTTGCA	0.597													T	90770825	G	T	90770825	3	4	364	1	0	0	0	0	1	0	0	0	14125	991	35	4	1775	4	SEMA4B	15	90770825	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159229	90770825	11760567	11257	34759											
IQGAP1	8826	broad.mit.edu	37	chr15	90934099	90934099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgtcatttggaagaagCgaagaggtaaagattggctg	12	11	13	5	1	1	3	1	0	0	3	1	5	1	4	1	3	1	2	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90934099C>T	ENST00000268182.5	+	2	273	c.149C>T	c.(148-150)gCg>gTg	p.A50V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	50	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTGGAAGAAGCGAAGAGGTAA	0.423													T	90934099	C	T	90934099	3	4	364	1	0	0	0	0	1	0	0	0	7872	768	27	1	155	1	IQGAP1	15	90934099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163274	90934099	11597293	11258	34760											
IQGAP1	8826	broad.mit.edu	37	chr15	90972822	90972822	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttttttttttctaggCgactggcctccactttagac	5	20	6	10	1	2	1	0	0	2	1	3	2	3	1	2	2	0	0	2	2	2	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90972822C>T	ENST00000268182.5	+	4	438	c.314C>T	c.(313-315)gCg>gTg	p.A105V	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	105	CH.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTTTCTAGGCGACTGGCCTC	0.343													T	90972822	C	T	90972822	5	4	364	1	0	0	0	0	0	0	1	0	7872	782	27	1	328	1	IQGAP1	15	90972822	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38723	90972822	11558570	11259	34761											
IQGAP1	8826	broad.mit.edu	37	chr15	90996049	90996049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taatgctgcaatccagaaggGtgttgctgagaagactgttt	11	12	12	6	0	0	3	0	1	0	3	1	4	1	3	1	1	3	5	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:90996049G>A	ENST00000268182.5	+	12	1329	c.1205G>A	c.(1204-1206)gGt>gAt	p.G402D	IQGAP1_ENST00000560738.1_Intron	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	402					energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATCCAGAAGGGTGTTGCTGAG	0.512													A	90996049	G	A	90996049	3	1	364	1	0	0	0	0	1	0	0	0	7872	1261	44	2	1251	2	IQGAP1	15	90996049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23227	90996049	11535343	11260	34762											
IQGAP1	8826	broad.mit.edu	37	chr15	91025201	91025201	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcccagcaaactgccCtatgatgtgacccctgagca	9	10	8	14	0	1	3	0	3	1	0	2	3	2	3	4	0	4	2	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025201C>A	ENST00000268182.5	+	27	3463	c.3339C>A	c.(3337-3339)ccC>ccA	p.P1113P	IQGAP1_ENST00000560738.1_Silent_p.P541P	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1113	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GCAAACTGCCCTATGATGTGA	0.468													A	91025201	C	A	91025201	2	1	364	1	0	0	0	0	0	0	0	1	7872	668	24	4		4	IQGAP1	15	91025201	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29152	91025201	11506191	11261	34763											
IQGAP1	8826	broad.mit.edu	37	chr15	91025491	91025491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgagaagttccctgatgCtggtgaggatgagctgctga	9	10	15	7	0	0	5	0	5	0	1	1	7	1	6	1	2	3	5	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91025491C>T	ENST00000268182.5	+	28	3657	c.3533C>T	c.(3532-3534)gCt>gTt	p.A1178V	IQGAP1_ENST00000560738.1_Missense_Mutation_p.A606V	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1178	C1.|Ras-GAP.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTCCCTGATGCTGGTGAGGAT	0.493											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	91025491	C	T	91025491	3	4	364	1	0	0	0	0	1	0	0	0	7872	797	28	2	3643	2	IQGAP1	15	91025491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290	91025491	11505901	11262	34764											
IQGAP1	8826	broad.mit.edu	37	chr15	91027504	91027504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcaggataaatttaatGtggatgagtactctgattta	13	15	9	4	0	2	2	1	2	1	0	2	4	2	4	0	2	2	2	0	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91027504G>A	ENST00000268182.5	+	30	3965	c.3841G>A	c.(3841-3843)Gtg>Atg	p.V1281M	IQGAP1_ENST00000560738.1_Missense_Mutation_p.V709M	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1281	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TAAATTTAATGTGGATGAGTA	0.398													A	91027504	G	A	91027504	3	1	364	1	0	0	0	0	1	0	0	0	7872	1377	48	2	3959	2	IQGAP1	15	91027504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2013	91027504	11503888	11263	34765											
IQGAP1	8826	broad.mit.edu	37	chr15	91030306	91030306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatgcagaaatggatgctcGaaccatcttactgaagtgag	14	9	11	7	1	1	3	0	2	1	1	2	6	1	4	1	1	4	2	1	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91030306G>A	ENST00000268182.5	+	32	4269	c.4145G>A	c.(4144-4146)cGa>cAa	p.R1382Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R810Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1382	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			ATGGATGCTCGAACCATCTTA	0.463													A	91030306	G	A	91030306	3	1	364	1	0	0	0	0	1	0	0	0	7872	1058	37	1	4271	1	IQGAP1	15	91030306	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2802	91030306	11501086	11264	34766											
CRTC3	64784	broad.mit.edu	37	chr15	91136970	91136970	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctccaccgaaggtctgggGacaagccagggcgacaaata	12	4	12	13	2	1	0	0	0	1	0	2	3	2	1	4	4	1	0	4	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91136970G>T	ENST00000420329.2	+	3	481	c.334G>T	c.(334-336)Gac>Tac	p.D112Y	CRTC3_ENST00000268184.6_Missense_Mutation_p.D112Y|CRTC3_ENST00000558619.1_3'UTR|CRTC3_ENST00000560098.1_Intron	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	112					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			AAGGTCTGGGGACAAGCCAGG	0.502			T	MAML2	salivary gland mucoepidermoid								T	91136970	G	T	91136970	3	4	364	1	0	0	0	0	1	0	0	0	3932	1174	41	4	344	4	CRTC3	15	91136970	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106664	91136970	11394422	11265	34767											
CRTC3	64784	broad.mit.edu	37	chr15	91145602	91145602	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattcctcacagcctctggAtgagagttggccaaggtaag	10	11	11	9	0	2	1	1	1	1	1	3	3	3	2	3	3	1	2	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91145602A>C	ENST00000420329.2	+	4	545	c.398A>C	c.(397-399)gAt>gCt	p.D133A	CRTC3_ENST00000268184.6_Missense_Mutation_p.D133A|CRTC3_ENST00000558619.1_3'UTR	NM_001042574.2|NM_022769.4	NP_001036039.1|NP_073606.3	Q6UUV7	CRTC3_HUMAN	CREB regulated transcription coactivator 3	133					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus			CRTC3/MAML2(26)	breast(1)|endometrium(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20	Melanoma(11;0.00551)|Lung NSC(78;0.0931)|all_lung(78;0.163)		BRCA - Breast invasive adenocarcinoma(143;0.0745)			CAGCCTCTGGATGAGAGTTGG	0.318			T	MAML2	salivary gland mucoepidermoid								C	91145602	A	C	91145602	3	2	364	1	0	0	0	0	1	0	0	0	3932	333	12	5	412	5	CRTC3	15	91145602	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8632	91145602	11385790	11266	34768											
BLM	641	broad.mit.edu	37	chr15	91290665	91290665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctacaggagcaactagaaCgtcactcagccagaacactt	15	7	7	12	1	3	2	2	0	1	2	3	3	3	3	1	1	6	1	1	1	5	3	rs148545569		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91290665C>T	ENST00000355112.3	+	2	161	c.43C>T	c.(43-45)Cgt>Tgt	p.R15C	BLM_ENST00000560509.1_Missense_Mutation_p.R15C	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	15					double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			GCAACTAGAACGTCACTCAGC	0.363			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				T	91290665	C	T	91290665	3	4	364	1	0	0	0	0	1	0	0	0	1451	536	19	1	45	1	BLM	15	91290665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145063	91290665	11240727	11267	34769											
FURIN	5045	broad.mit.edu	37	chr15	91424521	91424521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccacgccggcagtgtgcGaggaaggcttctccctgcac	6	7	12	16	3	1	0	0	0	1	0	3	2	2	1	3	3	2	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91424521G>A	ENST00000268171.3	+	16	2077	c.1798G>A	c.(1798-1800)Gag>Aag	p.E600K		NM_002569.2	NP_002560.1	P09958	FURIN_HUMAN	furin (paired basic amino acid cleaving enzyme)	600	Cys-rich.				cell proliferation|negative regulation of low-density lipoprotein particle receptor catabolic process|negative regulation of transforming growth factor-beta1 production|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|Notch signaling pathway|peptide biosynthetic process|peptidyl-glutamic acid carboxylation|post-translational protein modification|secretion by cell|signal peptide processing|transforming growth factor beta receptor signaling pathway|viral assembly, maturation, egress, and release	cell surface|Golgi lumen|Golgi membrane|integral to membrane|membrane raft|plasma membrane|trans-Golgi network|trans-Golgi network transport vesicle	metal ion binding|nerve growth factor binding|peptide binding|protease binding|serine-type endopeptidase activity|serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(4)|endometrium(4)|large_intestine(3)|liver(2)|lung(13)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	36	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			GGCAGTGTGCGAGGAAGGCTT	0.607													A	91424521	G	A	91424521	3	1	364	1	0	0	0	0	1	0	0	0	6151	1059	37	1	1856	1	FURIN	15	91424521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133856	91424521	11106871	11268	34770											
FES	2242	broad.mit.edu	37	chr15	91436526	91436526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccccacctgcagggggcGacttcctgaccttcctccgc	4	8	9	20	2	0	1	0	1	0	0	4	2	4	1	8	2	1	1	8	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91436526G>A	ENST00000328850.3	+	16	2069	c.1927G>A	c.(1927-1929)Gac>Aac	p.D643N	FES_ENST00000394302.1_Missense_Mutation_p.D502N|FES_ENST00000394300.3_Missense_Mutation_p.D585N|FES_ENST00000444422.2_Missense_Mutation_p.D573N|FES_ENST00000450438.2_Missense_Mutation_p.D515N|FES_ENST00000414248.2_Missense_Mutation_p.D515N	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	643	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			TGCAGGGGGCGACTTCCTGAC	0.687													A	91436526	G	A	91436526	3	1	364	1	0	0	0	0	1	0	0	0	5869	1058	37	1	1985	1	FES	15	91436526	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12005	91436526	11094866	11269	34771											
FES	2242	broad.mit.edu	37	chr15	91437250	91437250	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggggcctccccctatcccaAcctcagcaatcagcagacac	10	5	8	18	0	2	1	2	0	0	1	4	1	4	1	5	2	3	2	5	2	3	1	rs147795278	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91437250A>G	ENST00000328850.3	+	18	2430	c.2288A>G	c.(2287-2289)aAc>aGc	p.N763S	FES_ENST00000394302.1_Missense_Mutation_p.N622S|FES_ENST00000394300.3_Missense_Mutation_p.N705S|FES_ENST00000444422.2_Missense_Mutation_p.N693S|FES_ENST00000450438.2_Missense_Mutation_p.N635S|FES_ENST00000414248.2_Missense_Mutation_p.N635S	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	763	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCCTATCCCAACCTCAGCAAT	0.612													G	91437250	A	G	91437250	3	3	364	1	0	0	0	0	1	0	0	0	5869	43	2	3	2354	3	FES	15	91437250	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	724	91437250	11094142	11270	34772											
MAN2A2	4122	broad.mit.edu	37	chr15	91453772	91453772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgcagctcacgctcGccgctctggtctggctggcc	2	9	13	17	3	3	0	1	0	2	0	4	0	3	0	3	4	2	6	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91453772G>A	ENST00000360468.3	+	10	1637	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	MAN2A2_ENST00000431652.2_Missense_Mutation_p.R48H|MAN2A2_ENST00000559717.1_Missense_Mutation_p.R540H	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	540					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCTCACGCTCGCCGCTCTGGT	0.627													A	91453772	G	A	91453772	3	1	364	1	0	0	0	0	1	0	0	0	9290	1087	38	1	1657	1	MAN2A2	15	91453772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16522	91453772	11077620	11271	34773											
UNC45A	55898	broad.mit.edu	37	chr15	91491397	91491397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcaatgaccagatcgacGcaggcactcggcgctgggca	9	6	14	12	4	0	2	0	1	0	1	2	3	0	2	1	3	1	5	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91491397G>A	ENST00000394275.2	+	15	2411	c.1576G>A	c.(1576-1578)Gca>Aca	p.A526T	UNC45A_ENST00000418476.2_Missense_Mutation_p.A541T	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	541					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CCAGATCGACGCAGGCACTCG	0.602													A	91491397	G	A	91491397	3	1	364	1	0	0	0	0	1	0	0	0	17090	1087	38	1	1667	1	UNC45A	15	91491397	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37625	91491397	11039995	11272	34774											
VPS33B	26276	broad.mit.edu	37	chr15	91551163	91551163	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatccacatcaagaggcagCaaagagaaggcccattcatc	16	5	9	11	0	2	3	2	0	0	3	4	4	3	3	2	2	1	2	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91551163C>T	ENST00000333371.3	-	7	788	c.435G>A	c.(433-435)ttG>ttA	p.L145L	VPS33B_ENST00000535843.1_Silent_p.L54L|VPS33B_ENST00000535906.1_Silent_p.L118L	NM_018668.3	NP_061138.3	Q9H267	VP33B_HUMAN	vacuolar protein sorting 33 homolog B (yeast)	145					cellular membrane fusion|lysosome localization|melanosome localization|platelet alpha granule organization|protein transport|vesicle docking involved in exocytosis	late endosome membrane|lysosomal membrane|perinuclear region of cytoplasm|platelet alpha granule	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|stomach(2)	16	Lung NSC(78;0.0987)|all_lung(78;0.175)					CAAGAGGCAGCAAAGAGAAGG	0.512													T	91551163	C	T	91551163	2	4	364	1	0	0	0	0	0	0	0	1	17304	709	25	2		2	VPS33B	15	91551163	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59766	91551163	10980229	11273	34775											
SV2B	9899	broad.mit.edu	37	chr15	91801681	91801681	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatggggaccaattaccActtccatagctggagagtgt	11	9	11	10	0	0	1	0	0	0	1	1	3	1	2	3	3	3	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91801681A>C	ENST00000394232.1	+	5	1285	c.815A>C	c.(814-816)cAc>cCc	p.H272P	SV2B_ENST00000545111.2_Missense_Mutation_p.H121P|SV2B_ENST00000330276.4_Missense_Mutation_p.H272P	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	272					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			ACCAATTACCACTTCCATAGC	0.522													C	91801681	A	C	91801681	3	2	364	1	0	0	0	0	1	0	0	0	15514	159	6	5	829	5	SV2B	15	91801681	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	250518	91801681	10729711	11274	34776											
SV2B	9899	broad.mit.edu	37	chr15	91809856	91809856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggatgaattcattgaGatccaaagttcaacaggaac	17	9	8	7	0	2	2	2	2	0	1	3	5	3	4	1	2	2	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:91809856G>T	ENST00000394232.1	+	7	1523	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	SV2B_ENST00000545111.2_Missense_Mutation_p.E200D|SV2B_ENST00000330276.4_Missense_Mutation_p.E351D	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	351					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			AATTCATTGAGATCCAAAGTT	0.408													T	91809856	G	T	91809856	3	4	364	1	0	0	0	0	1	0	0	0	15514	933	33	4	1075	4	SV2B	15	91809856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8175	91809856	10721536	11275	34777											
SLCO3A1	28232	broad.mit.edu	37	chr15	92647619	92647619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcttgatgtttgggtttCcacagtccctgcccccgcac	4	12	8	17	1	1	1	0	1	1	0	3	1	3	1	5	1	1	3	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92647619C>T	ENST00000318445.6	+	4	1070	c.856C>T	c.(856-858)Cca>Tca	p.P286S	SLCO3A1_ENST00000555549.1_3'UTR|SLCO3A1_ENST00000424469.2_Missense_Mutation_p.P286S	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	286					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GTTTGGGTTTCCACAGTCCCT	0.607													T	92647619	C	T	92647619	3	4	364	1	0	0	0	0	1	0	0	0	14822	855	30	2	870	2	SLCO3A1	15	92647619	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	837763	92647619	9883773	11276	34778											
ST8SIA2	8128	broad.mit.edu	37	chr15	92988138	92988138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcatacccctcgctgcGcctgctgcacgccgttcgcg	4	8	10	19	6	0	0	0	0	0	0	2	0	0	0	4	0	5	5	4	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:92988138G>A	ENST00000268164.3	+	5	1058	c.821G>A	c.(820-822)cGc>cAc	p.R274H	ST8SIA2_ENST00000539113.1_Missense_Mutation_p.R253H	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	274					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			CCCTCGCTGCGCCTGCTGCAC	0.622													A	92988138	G	A	92988138	3	1	364	1	0	0	0	0	1	0	0	0	15328	1087	38	1	839	1	ST8SIA2	15	92988138	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340519	92988138	9543254	11277	34779											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007423	93007423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctgcaaacaaatctacctCtacggcttctggccctttcc	8	13	5	15	1	4	0	0	0	4	0	5	0	5	0	3	2	4	2	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007423C>T	ENST00000268164.3	+	6	1173	c.936C>T	c.(934-936)ctC>ctT	p.L312L	ST8SIA2_ENST00000539113.1_Silent_p.L291L	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	312					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			AAATCTACCTCTACGGCTTCT	0.522													T	93007423	C	T	93007423	2	4	364	1	0	0	0	0	0	0	0	1	15328	900	32	2		2	ST8SIA2	15	93007423	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19285	93007423	9523969	11278	34780											
ST8SIA2	8128	broad.mit.edu	37	chr15	93007444	93007444	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacggcttctggccctttccGctggatcagaaccagaaccc	8	9	9	15	2	2	2	1	0	1	2	3	3	3	3	4	3	3	2	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93007444G>A	ENST00000268164.3	+	6	1194	c.957G>A	c.(955-957)ccG>ccA	p.P319P	ST8SIA2_ENST00000539113.1_Silent_p.P298P	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	319					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			GGCCCTTTCCGCTGGATCAGA	0.517													A	93007444	G	A	93007444	2	1	364	1	0	0	0	0	0	0	0	1	15328	1074	38	1		1	ST8SIA2	15	93007444	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	93007444	9523948	11279	34781											
CHD2	1106	broad.mit.edu	37	chr15	93467605	93467605	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcagtcagtcggaaagTgagcagggaagtgatccagg	12	6	16	7	1	2	2	2	2	0	0	4	4	3	4	1	4	1	2	1	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93467605T>C	ENST00000394196.4	+	3	1185	c.117T>C	c.(115-117)agT>agC	p.S39S	CHD2_ENST00000557381.1_Silent_p.S39S|CHD2_ENST00000536619.1_Silent_p.S52S|CHD2_ENST00000420239.2_Silent_p.S39S	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	39	Ser-rich.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AGTCGGAAAGTGAGCAGGGAA	0.468													C	93467605	T	C	93467605	2	2	364	1	0	0	0	0	0	0	0	1	3355	1693	59	3		3	CHD2	15	93467605	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	460161	93467605	9063787	11280	34782											
CHD2	1106	broad.mit.edu	37	chr15	93489432	93489432	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaactcaaaaaccatcccaAcaagagaatgcaaggtatgg	19	5	7	10	0	1	1	1	0	0	1	2	2	2	1	2	2	4	2	2	2	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93489432A>G	ENST00000394196.4	+	12	2431	c.1363A>G	c.(1363-1365)Aca>Gca	p.T455A	CHD2_ENST00000557381.1_Missense_Mutation_p.T455A|CHD2_ENST00000536619.1_Missense_Mutation_p.T468A|CHD2_ENST00000420239.2_Missense_Mutation_p.T455A	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	455	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AACCATCCCAACAAGAGAATG	0.398													G	93489432	A	G	93489432	3	3	364	1	0	0	0	0	1	0	0	0	3355	43	2	3	1405	3	CHD2	15	93489432	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21827	93489432	9041960	11281	34783											
CHD2	1106	broad.mit.edu	37	chr15	93534732	93534732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggcttataagaagtttgGtctccctcttgaacggtaag	11	12	10	8	1	2	2	0	1	2	1	3	2	2	2	1	3	1	3	1	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93534732G>A	ENST00000394196.4	+	27	4508	c.3440G>A	c.(3439-3441)gGt>gAt	p.G1147D	CHD2_ENST00000557381.1_Missense_Mutation_p.G1147D	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1147					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			AAGAAGTTTGGTCTCCCTCTT	0.308													A	93534732	G	A	93534732	3	1	364	1	0	0	0	0	1	0	0	0	3355	1261	44	2	3546	2	CHD2	15	93534732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45300	93534732	8996660	11282	34784											
CHD2	1106	broad.mit.edu	37	chr15	93540498	93540498	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagatactgcttaacctgTcgtgtcaaagctgcacattt	10	15	7	9	1	1	1	1	0	0	1	2	1	1	1	1	0	5	3	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93540498T>G	ENST00000394196.4	+	30	4818	c.3750T>G	c.(3748-3750)tgT>tgG	p.C1250W	CHD2_ENST00000557381.1_Missense_Mutation_p.C1250W	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1250					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GCTTAACCTGTCGTGTCAAAG	0.403													G	93540498	T	G	93540498	3	3	364	1	0	0	0	0	1	0	0	0	3355	1673	58	5	3868	5	CHD2	15	93540498	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5766	93540498	8990894	11283	34785											
CHD2	1106	broad.mit.edu	37	chr15	93541812	93541812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgaagctgctcagaaaGggtctggagaagaagggggc	11	8	17	5	0	2	4	1	1	1	3	2	5	2	4	0	4	2	3	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93541812G>T	ENST00000394196.4	+	31	5037	c.3969G>T	c.(3967-3969)aaG>aaT	p.K1323N	CHD2_ENST00000557381.1_Missense_Mutation_p.K1323N	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	1323					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			TGCTCAGAAAGGGTCTGGAGA	0.532													T	93541812	G	T	93541812	3	4	364	1	0	0	0	0	1	0	0	0	3355	991	35	4	4091	4	CHD2	15	93541812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1314	93541812	8989580	11284	34786											
RGMA	56963	broad.mit.edu	37	chr15	93588245	93588245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtctagcagaacacagggaGcagggccaggagcgggacga	12	2	17	10	3	1	1	0	0	1	1	1	5	1	4	1	4	4	2	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93588245G>T	ENST00000329082.7	-	4	1607	c.1336C>A	c.(1336-1338)Ctc>Atc	p.L446I	RGMA_ENST00000557420.1_3'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.L430I|RGMA_ENST00000538818.1_Missense_Mutation_p.L337I|RGMA_ENST00000542321.2_Missense_Mutation_p.L430I|RGMA_ENST00000557301.1_Missense_Mutation_p.L454I|RGMA_ENST00000556658.1_Missense_Mutation_p.L337I|RGMA_ENST00000543599.1_Missense_Mutation_p.L430I	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	446					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			AACACAGGGAGCAGGGCCAGG	0.721													T	93588245	G	T	93588245	3	4	364	1	0	0	0	0	1	0	0	0	13368	971	34	4	20	4	RGMA	15	93588245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46433	93588245	8943147	11285	34787											
RGMA	56963	broad.mit.edu	37	chr15	93595313	93595313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcgatgagcggccaggcGccctgcaccttgcaggtctg	5	9	14	13	3	1	1	0	1	1	0	2	2	1	1	3	3	3	2	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:93595313G>A	ENST00000329082.7	-	3	826	c.555C>T	c.(553-555)ggC>ggT	p.G185G	RGMA_ENST00000556087.1_Silent_p.G169G|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000425933.2_Silent_p.G169G|RGMA_ENST00000538818.1_Silent_p.G76G|RGMA_ENST00000542321.2_Silent_p.G169G|RGMA_ENST00000557301.1_Silent_p.G193G|RGMA_ENST00000556658.1_Silent_p.G76G|RGMA_ENST00000543599.1_Silent_p.G169G	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	185					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCGGCCAGGCGCCCTGCACCT	0.627													A	93595313	G	A	93595313	2	1	364	1	0	0	0	0	0	0	0	1	13368	1074	38	1		1	RGMA	15	93595313	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7068	93595313	8936079	11286	34788											
MCTP2	55784	broad.mit.edu	37	chr15	94841867	94841867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactcagaggaggcctatGcctctcctgctgagcggaga	9	7	13	12	1	2	4	1	1	1	3	3	6	2	5	3	3	3	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94841867G>A	ENST00000357742.4	+	1	373	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.A125T|MCTP2_ENST00000543482.1_Missense_Mutation_p.A125T	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	125					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GGAGGCCTATGCCTCTCCTGC	0.527													A	94841867	G	A	94841867	3	1	364	1	0	0	0	0	1	0	0	0	9476	1319	46	2	375	2	MCTP2	15	94841867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1246554	94841867	7689525	11287	34789											
MCTP2	55784	broad.mit.edu	37	chr15	94942270	94942270	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaggagttatttacttagaGatggaccttatatataatcc	15	14	7	5	0	0	1	0	0	0	1	1	4	1	3	2	2	1	1	2	2	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:94942270G>A	ENST00000357742.4	+	14	1869	c.1869G>A	c.(1867-1869)gaG>gaA	p.E623E	MCTP2_ENST00000557742.1_Silent_p.E211E|MCTP2_ENST00000331706.4_Silent_p.E211E|MCTP2_ENST00000451018.3_Silent_p.E623E	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	623					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			TTTACTTAGAGATGGACCTTA	0.373													A	94942270	G	A	94942270	2	1	364	1	0	0	0	0	0	0	0	1	9476	933	33	2		2	MCTP2	15	94942270	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100403	94942270	7589122	11288	34790											
NR2F2	7026	broad.mit.edu	37	chr15	96877635	96877635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtttgtgttgaatgcggCgcagtgctccatgcccctcc	4	12	12	13	2	0	1	0	1	0	0	2	1	2	1	4	1	3	5	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:96877635C>T	ENST00000394166.3	+	2	2162	c.773C>T	c.(772-774)gCg>gTg	p.A258V	NR2F2_ENST00000394171.2_Missense_Mutation_p.A105V|NR2F2_ENST00000453270.2_Missense_Mutation_p.A105V|NR2F2_ENST00000421109.2_Missense_Mutation_p.A125V	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	258	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			TTGAATGCGGCGCAGTGCTCC	0.677													T	96877635	C	T	96877635	3	4	364	1	0	0	0	0	1	0	0	0	10704	768	27	1	826	1	NR2F2	15	96877635	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1935365	96877635	5653757	11289	34791											
ARRDC4	91947	broad.mit.edu	37	chr15	98514380	98514380	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgacccacatcctagcgAcgtagaagagagccagcctg	11	6	12	12	2	0	3	0	1	0	2	1	5	1	3	4	1	3	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:98514380A>G	ENST00000268042.6	+	8	1384	c.1220A>G	c.(1219-1221)gAc>gGc	p.D407G	ARRDC4_ENST00000538249.1_Missense_Mutation_p.D320G	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	407					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			CATCCTAGCGACGTAGAAGAG	0.383													G	98514380	A	G	98514380	3	3	364	1	0	0	0	0	1	0	0	0	990	275	10	3	1250	3	ARRDC4	15	98514380	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1636745	98514380	4017012	11290	34792											
IGF1R	3480	broad.mit.edu	37	chr15	99467760	99467760	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttatttccccaggatcagCgagaatgtgtgtccagacag	10	12	10	9	1	1	2	1	0	0	2	3	4	3	3	3	1	1	0	3	1	2	3	rs150221450		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99467760C>T	ENST00000268035.6	+	13	3240	c.2629C>T	c.(2629-2631)Cga>Tga	p.R877*	IGF1R_ENST00000558762.1_Nonsense_Mutation_p.R877*	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	877	Fibronectin type-III 3.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CCAGGATCAGCGAGAATGTGT	0.517													T	99467760	C	T	99467760	4	4	364	1	0	0	0	0	0	1	0	0	7629	760	27	1	2679	1	IGF1R	15	99467760	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	953380	99467760	3063632	11291	34793											
SYNM	23336	broad.mit.edu	37	chr15	99670344	99670344	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagagcagaggtgtccccGaaaggtttgcagacgcctgt	11	7	14	9	2	0	4	0	0	0	4	1	5	1	4	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99670344G>A	ENST00000336292.6	+	5	1896	c.1776G>A	c.(1774-1776)ccG>ccA	p.P592P	SYNM_ENST00000560674.1_Silent_p.P307P|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.P592P	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	593	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						AGGTGTCCCCGAAAGGTTTGC	0.562													A	99670344	G	A	99670344	2	1	364	1	0	0	0	0	0	0	0	1	15552	1045	37	1		1	SYNM	15	99670344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202584	99670344	2861048	11292	34794											
SYNM	23336	broad.mit.edu	37	chr15	99671904	99671904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccacaggctttgcccaGtcacaggtgctggaggatgt	8	8	13	12	0	1	0	1	0	0	0	1	2	1	2	3	4	3	2	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99671904G>T	ENST00000336292.6	+	5	3456	c.3336G>T	c.(3334-3336)caG>caT	p.Q1112H	SYNM_ENST00000560674.1_Missense_Mutation_p.Q827H|RP11-6O2.4_ENST00000566974.1_RNA|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.Q1112H	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1113	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						GCTTTGCCCAGTCACAGGTGC	0.622													T	99671904	G	T	99671904	3	4	364	1	0	0	0	0	1	0	0	0	15552	1020	36	4	3352	4	SYNM	15	99671904	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1560	99671904	2859488	11293	34795											
SYNM	23336	broad.mit.edu	37	chr15	99672460	99672460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taggagattctgtacacatgGaagggttgccagggagcagc	11	8	15	7	0	1	1	0	0	1	1	1	4	1	3	1	4	4	3	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672460G>A	ENST00000336292.6	+	5	4012	c.3892G>A	c.(3892-3894)Gaa>Aaa	p.E1298K	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1299	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|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						TGTACACATGGAAGGGTTGCC	0.532													A	99672460	G	A	99672460	3	1	364	1	0	0	0	0	1	0	0	0	15552	1175	41	2	3908	2	SYNM	15	99672460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	556	99672460	2858932	11294	34796											
SYNM	23336	broad.mit.edu	37	chr15	99672813	99672813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacggaaacctctgaacaCattgccatccgtggacccgt	12	7	9	13	3	1	1	0	1	1	0	2	4	2	3	4	2	4	0	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99672813C>T	ENST00000336292.6	+	5	4365	c.4245C>T	c.(4243-4245)caC>caT	p.H1415H	SYNM_ENST00000560674.1_Intron|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Intron	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1416	Interaction with DMD and UTRN.|Interaction with TLN1 and VCL.|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						CCTCTGAACACATTGCCATCC	0.522													T	99672813	C	T	99672813	2	4	364	1	0	0	0	0	0	0	0	1	15552	477	17	2		2	SYNM	15	99672813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	353	99672813	2858579	11295	34797											
SYNM	23336	broad.mit.edu	37	chr15	99673044	99673044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggttcctggagagacgcGgacagtaggaatgaccaggc	10	6	16	9	3	0	2	0	1	0	1	1	6	1	5	2	5	0	2	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99673044G>A	ENST00000336292.6	+	5	4596	c.4476G>A	c.(4474-4476)gcG>gcA	p.A1492A	SYNM_ENST00000560674.1_Silent_p.A895A|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Silent_p.A1180A	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1493	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						GGAGAGACGCGGACAGTAGGA	0.577													A	99673044	G	A	99673044	2	1	364	1	0	0	0	0	0	0	0	1	15552	1103	39	1		1	SYNM	15	99673044	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231	99673044	2858348	11296	34798											
TTC23	64927	broad.mit.edu	37	chr15	99678325	99678325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcttcgaagcaacctTgggggccctgcagacaagca	9	7	12	13	1	0	1	0	0	0	1	1	2	0	1	3	3	4	4	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99678325T>C	ENST00000394132.2	-	14	2051	c.1234A>G	c.(1234-1236)Aag>Gag	p.K412E	TTC23_ENST00000262074.4_Missense_Mutation_p.K412E|TTC23_ENST00000394135.3_Missense_Mutation_p.K412E|TTC23_ENST00000394136.1_Missense_Mutation_p.K412E|TTC23_ENST00000558663.1_Missense_Mutation_p.K412E|TTC23_ENST00000558613.1_Missense_Mutation_p.K412E			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	412							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GAAGCAACCTTGGGGGCCCTG	0.652													C	99678325	T	C	99678325	3	2	364	1	0	0	0	0	1	0	0	0	16792	1821	63	3	113	3	TTC23	15	99678325	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5281	99678325	2853067	11297	34799											
TTC23	64927	broad.mit.edu	37	chr15	99696369	99696369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccttcttcagtttcttgCgggccccactgtggttcccc	3	15	8	15	1	3	0	1	0	2	0	4	0	4	0	5	2	2	2	5	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99696369C>T	ENST00000394132.2	-	12	1944	c.1127G>A	c.(1126-1128)cGc>cAc	p.R376H	TTC23_ENST00000262074.4_Missense_Mutation_p.R376H|TTC23_ENST00000394135.3_Missense_Mutation_p.R376H|TTC23_ENST00000394130.1_Missense_Mutation_p.R376H|TTC23_ENST00000394136.1_Missense_Mutation_p.R376H|TTC23_ENST00000558663.1_Missense_Mutation_p.R376H|TTC23_ENST00000558613.1_Missense_Mutation_p.R376H|TTC23_ENST00000394129.2_Missense_Mutation_p.R376H			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	376							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			CAGTTTCTTGCGGGCCCCACT	0.557													T	99696369	C	T	99696369	3	4	364	1	0	0	0	0	1	0	0	0	16792	768	27	1	228	1	TTC23	15	99696369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18044	99696369	2835023	11298	34800											
TTC23	64927	broad.mit.edu	37	chr15	99762037	99762037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaattcttgtcagtgctacGcaacgcacaagctcatggac	12	9	8	12	2	3	0	2	0	1	0	3	1	3	1	0	1	4	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:99762037G>A	ENST00000394132.2	-	6	1030	c.213C>T	c.(211-213)tgC>tgT	p.C71C	TTC23_ENST00000262074.4_Silent_p.C71C|TTC23_ENST00000394135.3_Silent_p.C71C|TTC23_ENST00000394130.1_Silent_p.C71C|TTC23_ENST00000394136.1_Silent_p.C71C|TTC23_ENST00000558663.1_Silent_p.C71C|TTC23_ENST00000558613.1_Silent_p.C71C|TTC23_ENST00000394129.2_Silent_p.C71C			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	71							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TCAGTGCTACGCAACGCACAA	0.448													A	99762037	G	A	99762037	2	1	364	1	0	0	0	0	0	0	0	1	16792	1079	38	1		1	TTC23	15	99762037	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65668	99762037	2769355	11299	34801											
MEF2A	4205	broad.mit.edu	37	chr15	100173378	100173378	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggatgaaaggaaccgacaGgtaaatgaaaattttaattt	18	11	9	3	1	0	2	0	2	0	0	0	5	0	4	1	3	1	1	1	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100173378G>T	ENST00000354410.5	+	3	683	c.54G>T	c.(52-54)caG>caT	p.Q18H	MEF2A_ENST00000453228.2_Splice_Site_p.Q18H|MEF2A_ENST00000338042.6_Splice_Site_p.Q18H|MEF2A_ENST00000558812.1_Splice_Site_p.Q18H|MEF2A_ENST00000557785.1_Splice_Site_p.Q18H|MEF2A_ENST00000449277.2_Splice_Site_p.Q18H|MEF2A_ENST00000558856.1_3'UTR|MEF2A_ENST00000557942.1_Splice_Site_p.Q18H	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	18	Lys-rich (basic).|MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			GGAACCGACAGGTAAATGaaa	0.274													T	100173378	G	T	100173378	5	4	364	1	0	0	0	0	0	0	1	0	9530	1014	35	4	56	4	MEF2A	15	100173378	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411341	100173378	2358014	11300	34802											
MEF2A	4205	broad.mit.edu	37	chr15	100185844	100185844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgactgtgaaatagcaCtcatcattttcaacagctct	11	14	6	10	0	5	2	3	2	2	0	5	2	5	2	0	0	3	2	0	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100185844C>T	ENST00000354410.5	+	4	762	c.133C>T	c.(133-135)Ctc>Ttc	p.L45F	MEF2A_ENST00000453228.2_Missense_Mutation_p.L45F|MEF2A_ENST00000338042.6_Missense_Mutation_p.L45F|MEF2A_ENST00000558812.1_Intron|MEF2A_ENST00000557785.1_Missense_Mutation_p.L45F|MEF2A_ENST00000449277.2_Intron|MEF2A_ENST00000558856.1_Intron|MEF2A_ENST00000557942.1_Missense_Mutation_p.L45F	NM_005587.2	NP_005578.2	Q02078	MEF2A_HUMAN	myocyte enhancer factor 2A	45	MADS-box.				apoptosis|BMK cascade|cardiac conduction|cellular response to calcium ion|dendrite morphogenesis|innate immune response|mitochondrial genome maintenance|mitochondrion distribution|muscle organ development|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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|ventricular cardiac myofibril development	nuclear chromatin|nucleoplasm	activating transcription factor binding|histone acetyltransferase binding|histone deacetylase binding|protein heterodimerization activity|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|SMAD binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(1)	12	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00085)			TGAAATAGCACTCATCATTTT	0.328													T	100185844	C	T	100185844	3	4	364	1	0	0	0	0	1	0	0	0	9530	565	20	2	139	2	MEF2A	15	100185844	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12466	100185844	2345548	11301	34803											
ADAMTS17	170691	broad.mit.edu	37	chr15	100802609	100802609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgaatgttaattttaatcCccaggctctggtgctgaaac	10	14	8	9	0	1	2	0	2	1	0	2	2	2	2	2	2	2	3	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:100802609C>A	ENST00000268070.4	-	5	926	c.821G>T	c.(820-822)gGg>gTg	p.G274V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	274	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AATTTTAATCCCCAGGCTCTG	0.383													A	100802609	C	A	100802609	3	1	364	1	0	0	0	0	1	0	0	0	262	623	22	4	2538	4	ADAMTS17	15	100802609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	616765	100802609	1728783	11302	34804											
ALDH1A3	220	broad.mit.edu	37	chr15	101425524	101425524	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtgggaaaaagtttgctaCatgtaacccttcaactcggg	12	10	11	8	1	1	0	1	0	0	0	2	2	1	1	1	2	4	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101425524C>T	ENST00000329841.5	+	2	684	c.152C>T	c.(151-153)aCa>aTa	p.T51I	ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA|ALDH1A3_ENST00000346623.6_Missense_Mutation_p.T51I	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	51					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	AAGTTTGCTACATGTAACCCT	0.338													T	101425524	C	T	101425524	3	4	364	1	0	0	0	0	1	0	0	0	492	478	17	2	158	2	ALDH1A3	15	101425524	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	622915	101425524	1105868	11303	34805											
ALDH1A3	220	broad.mit.edu	37	chr15	101434238	101434238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccatggtcctgaagcctgCggagcagacacctctcaccg	9	6	10	16	2	1	2	1	1	1	1	3	3	2	3	5	2	3	1	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101434238C>T	ENST00000329841.5	+	6	1149	c.617C>T	c.(616-618)gCg>gTg	p.A206V	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Intron	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	206					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	CTGAAGCCTGCGGAGCAGACA	0.547													T	101434238	C	T	101434238	3	4	364	1	0	0	0	0	1	0	0	0	492	768	27	1	639	1	ALDH1A3	15	101434238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8714	101434238	1097154	11304	34806											
LRRK1	79705	broad.mit.edu	37	chr15	101528954	101528954	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggctgacccggagagctaCgctgtcaggaagaatgagtt	10	7	16	8	2	1	4	1	2	0	2	1	6	1	5	1	4	2	4	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101528954C>T	ENST00000284395.5	+	6	940	c.540C>T	c.(538-540)taC>taT	p.Y180Y	LRRK1_ENST00000532029.2_Silent_p.Y183Y|LRRK1_ENST00000388948.3_Silent_p.Y183Y			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	183					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGGAGAGCTACGCTGTCAGGA	0.617													T	101528954	C	T	101528954	2	4	364	1	0	0	0	0	0	0	0	1	9102	547	19	1		1	LRRK1	15	101528954	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94716	101528954	1002438	11305	34807											
LRRK1	79705	broad.mit.edu	37	chr15	101566188	101566188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaggccccaaacgccGtggtgctggtggtcgggacg	7	5	17	12	4	0	0	0	0	0	0	1	1	0	1	4	6	2	1	4	6	2	0	rs141579296	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101566188G>A	ENST00000284395.5	+	18	2642	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LRRK1_ENST00000388948.3_Missense_Mutation_p.V751M			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	751	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CCCAAACGCCGTGGTGCTGGT	0.587													A	101566188	G	A	101566188	3	1	364	1	0	0	0	0	1	0	0	0	9102	1145	40	1	2313	1	LRRK1	15	101566188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37234	101566188	965204	11306	34808											
LRRK1	79705	broad.mit.edu	37	chr15	101601435	101601435	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagaggatgtgctgccCtgggatgaaggtgagctgcc	7	8	18	8	0	0	3	0	2	0	1	0	5	0	5	2	4	5	3	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101601435C>A	ENST00000284395.5	+	31	5130	c.4730C>A	c.(4729-4731)cCt>cAt	p.P1577H	RP11-505E24.2_ENST00000559857.1_RNA|LRRK1_ENST00000388948.3_Missense_Mutation_p.P1580H			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1580					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ATGTGCTGCCCTGGGATGAAG	0.617													A	101601435	C	A	101601435	3	1	364	1	0	0	0	0	1	0	0	0	9102	681	24	4	4853	4	LRRK1	15	101601435	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35247	101601435	929957	11307	34809											
CHSY1	22856	broad.mit.edu	37	chr15	101717621	101717621	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctcactgagccattattaTtgctgcttttactgtaactt	8	18	5	10	0	1	1	1	1	0	0	2	1	2	1	2	0	5	3	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:101717621T>G	ENST00000254190.3	-	3	2856	c.2381A>C	c.(2380-2382)aAt>aCt	p.N794T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	794					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCATTATTATTGCTGCTTTT	0.388													G	101717621	T	G	101717621	3	3	364	1	0	0	0	0	1	0	0	0	3442	1493	52	5	31	5	CHSY1	15	101717621	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116186	101717621	813771	11308	34810											
TM2D3	80213	broad.mit.edu	37	chr15	102186949	102186949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagcagtggacgtggtcccGcaccgtgcagttggcagggt	7	7	16	11	3	0	0	0	0	0	0	1	1	1	1	2	4	2	5	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102186949G>A	ENST00000561373.1	-	2	842	c.286C>T	c.(286-288)Cgg>Tgg	p.R96W	TM2D3_ENST00000559107.1_Missense_Mutation_p.R161W|TM2D3_ENST00000347970.3_Missense_Mutation_p.R135W|TM2D3_ENST00000333202.3_Missense_Mutation_p.R161W|TM2D3_ENST00000428002.2_Missense_Mutation_p.R135W			Q9BRN9	TM2D3_HUMAN	TM2 domain containing 3	161						integral to membrane				central_nervous_system(1)|endometrium(2)|lung(6)|ovary(1)	10	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000268)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			ACGTGGTCCCGCACCGTGCAG	0.502													A	102186949	G	A	102186949	3	1	364	1	0	0	0	0	1	0	0	0	16065	1086	38	1	274	1	TM2D3	15	102186949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469328	102186949	344443	11309	34811											
OR4F6	390648	broad.mit.edu	37	chr15	102345968	102345968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctctgagtttgtgttcctgGgactctctgactcgcggaag	5	14	12	10	2	2	2	0	2	2	0	6	4	3	4	1	2	0	2	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr15:102345968G>A	ENST00000328882.4	+	1	67	c.46G>A	c.(46-48)Gga>Aga	p.G16R		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			TGTGTTCCTGGGACTCTCTGA	0.483													A	102345968	G	A	102345968	3	1	364	1	0	0	0	0	1	0	0	0	11142	1233	43	2	48	2	OR4F6	15	102345968	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159019	102345968	185424	11310	34812											
RHBDF1	64285	broad.mit.edu	37	chr16	108627	108627	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccacggcagcagcccaaaGgtgaagaggaagagcaccac	15	2	12	12	1	0	3	0	1	0	2	1	4	1	4	3	3	3	3	3	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:108627G>T	ENST00000262316.6	-	18	2422	c.2280C>A	c.(2278-2280)acC>acA	p.T760T		NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	760					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				GCAGCCCAAAGGTGAAGAGGA	0.587													T	108627	G	T	108627	2	4	364	1	0	0	0	0	0	0	0	1	13408	987	35	4		4	RHBDF1	16	108627	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08		108627	90246126	11311	34813											
RHBDF1	64285	broad.mit.edu	37	chr16	111407	111407	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccgatccagaagttCtcctgctgcacgtacttgac	7	10	10	14	2	1	2	0	1	1	1	3	3	2	2	3	1	3	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:111407C>A	ENST00000262316.6	-	10	1513	c.1371G>T	c.(1369-1371)gaG>gaT	p.E457D	RHBDF1_ENST00000454039.2_Missense_Mutation_p.E457D	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	457					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TCCAGAAGTTCTCCTGCTGCA	0.731													A	111407	C	A	111407	3	1	364	1	0	0	0	0	1	0	0	0	13408	912	32	4	1232	4	RHBDF1	16	111407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2780	111407	90243346	11312	34814											
MPG	4350	broad.mit.edu	37	chr16	133123	133123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccgaggcatacctggggCcagaggatgaagccgcccac	11	3	14	13	2	0	3	0	1	0	2	0	5	0	4	5	4	2	1	5	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:133123C>T	ENST00000219431.4	+	4	619	c.388C>T	c.(388-390)Cca>Tca	p.P130S	MPG_ENST00000397817.1_Missense_Mutation_p.P113S	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	130					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATACCTGGGGCCAGAGGATGA	0.622								Base excision repair (BER), DNA glycosylases					T	133123	C	T	133123	3	4	364	1	0	0	0	0	1	0	0	0	9800	739	26	2	426	2	MPG	16	133123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21716	133123	90221630	11313	34815											
HBA2	3040	broad.mit.edu	37	chr16	223532	223532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccgccgagttcacccctgCggtgcacgcctccctggaca	5	6	10	20	4	1	0	1	0	0	0	2	2	2	1	7	2	2	2	7	2	0	1	rs36075744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:223532C>T	ENST00000251595.6	+	3	428	c.362C>T	c.(361-363)gCg>gTg	p.A121V	HBA2_ENST00000397806.1_Missense_Mutation_p.A89V	NM_000517.4	NP_000508.1	P69905	HBA_HUMAN	hemoglobin, alpha 2	121			A -> E (in J-Meerut/J-Birmingham).		hydrogen peroxide catabolic process|positive regulation of cell death|protein heterooligomerization	cytosolic small ribosomal subunit|haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity|protein binding						all_cancers(16;2.03e-06)|all_epithelial(16;5.16e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0138)|all_lung(18;0.0306)			Amodiaquine(DB00613)|Chloroquine(DB00608)|Iron Dextran(DB00893)|Mefloquine(DB00358)|Primaquine(DB01087)|Quinine(DB00468)	TTCACCCCTGCGGTGCACGCC	0.662											OREG0003686	type=REGULATORY REGION|Gene=SERPINB9|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	223532	C	T	223532	3	4	364	1	0	0	0	0	1	0	0	0	7032	768	27	1	372	1	HBA2	16	223532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90409	223532	90131221	11314	34816											
RGS11	8786	broad.mit.edu	37	chr16	320571	320571	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcgtcatccaggacatagCggtggggctggcgcagcccc	6	5	17	13	3	1	0	1	0	0	0	2	1	2	1	3	6	2	2	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:320571C>T	ENST00000397770.3	-	15	1174	c.1157G>A	c.(1156-1158)cGc>cAc	p.R386H	ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000316163.5_Missense_Mutation_p.R365H|RGS11_ENST00000359740.5_Missense_Mutation_p.R375H			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	386	RGS.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				CAGGACATAGCGGTGGGGCTG	0.667													T	320571	C	T	320571	3	4	364	1	0	0	0	0	1	0	0	0	13383	768	27	1	258	1	RGS11	16	320571	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97039	320571	90034182	11315	34817											
AXIN1	8312	broad.mit.edu	37	chr16	343713	343713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggcttcctcgtccccGaagaccttggggaacaagag	8	8	13	12	2	0	2	0	0	0	2	3	4	2	3	4	3	1	2	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:343713G>A	ENST00000262320.3	-	8	2332	c.1961C>T	c.(1960-1962)tCg>tTg	p.S654L	AXIN1_ENST00000354866.3_Missense_Mutation_p.S654L	NM_003502.3	NP_003493.1	O15169	AXIN1_HUMAN	axin 1	654	Interaction with PPP2CA.|Interaction with RNF111.				activation of JUN kinase activity|activation of protein kinase activity|apoptosis|axial mesoderm formation|canonical Wnt receptor signaling pathway involved in neural plate anterior/posterior pattern formation|cellular protein complex assembly|cellular response to organic cyclic compound|cytoplasmic microtubule organization|determination of left/right symmetry|dorsal/ventral axis specification|embryonic eye morphogenesis|embryonic skeletal joint morphogenesis|forebrain anterior/posterior pattern formation|muscle cell development|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of fat cell differentiation|olfactory placode formation|optic placode formation|positive regulation of JNK cascade|positive regulation of peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity|regulation of catenin import into nucleus|tail morphogenesis|Wnt receptor signaling pathway involved in forebrain neuron fate commitment|Wnt receptor signaling pathway involved in somitogenesis	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|cell cortex|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|cytosol|lateral plasma membrane|nucleus|perinuclear region of cytoplasm|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|I-SMAD binding|p53 binding|protein complex scaffold|protein homodimerization activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			biliary_tract(27)|breast(4)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(20)|liver(81)|lung(5)|ovary(2)|prostate(3)|salivary_gland(7)|skin(5)|stomach(4)|thyroid(41)|upper_aerodigestive_tract(4)|urinary_tract(2)	221		all_cancers(16;2.75e-07)|all_epithelial(16;1.6e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00774)|all_lung(18;0.0187)				CCTCGTCCCCGAAGACCTTGG	0.637													A	343713	G	A	343713	3	1	364	1	0	0	0	0	1	0	0	0	1241	1059	37	1	643	1	AXIN1	16	343713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23142	343713	90011040	11316	34818											
TMEM8A	58986	broad.mit.edu	37	chr16	426671	426671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagggccagggggcaccGgtgcaggtgagcaccttctg	6	5	18	12	2	1	1	0	1	1	0	1	1	1	1	3	6	2	4	3	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:426671G>A	ENST00000431232.2	-	5	937	c.777C>T	c.(775-777)acC>acT	p.T259T	TMEM8A_ENST00000250930.3_Silent_p.T66T	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	259					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AGGGGGCACCGGTGCAGGTGA	0.706													A	426671	G	A	426671	2	1	364	1	0	0	0	0	0	0	0	1	16314	1103	39	1		1	TMEM8A	16	426671	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82958	426671	89928082	11317	34819											
TMEM8A	58986	broad.mit.edu	37	chr16	427115	427115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatctcgaccacccgcGtgaccagcagttcaggctgg	9	7	12	13	3	2	1	1	1	1	0	3	3	2	2	3	3	1	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:427115G>A	ENST00000431232.2	-	4	717	c.557C>T	c.(556-558)aCg>aTg	p.T186M	TMEM8A_ENST00000250930.3_De_novo_Start_InFrame|TMEM8A_ENST00000476735.1_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	186					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						GACCACCCGCGTGACCAGCAG	0.637											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	427115	G	A	427115	3	1	364	1	0	0	0	0	1	0	0	0	16314	1145	40	1	1798	1	TMEM8A	16	427115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444	427115	89927638	11318	34820											
DECR2	26063	broad.mit.edu	37	chr16	455024	455024	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattgctgagattttcatgcGgtgagactgctctgtgtccc	6	14	12	9	1	2	2	1	2	1	2	3	5	3	2	1	1	3	2	1	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:455024G>A	ENST00000219481.5	+	2	287	c.149G>A	c.(148-150)cGg>cAg	p.R50Q	DECR2_ENST00000397710.1_Splice_Site_p.R50Q|DECR2_ENST00000424398.2_Splice_Site_p.R50Q	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	50						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				ATTTTCATGCGGTGAGACTGC	0.552													A	455024	G	A	455024	5	1	364	1	0	0	0	0	0	0	1	0	4417	1130	39	1	155	1	DECR2	16	455024	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27909	455024	89899729	11319	34821											
DECR2	26063	broad.mit.edu	37	chr16	461021	461021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtccccaaaacatccgCgtcaacagcctcgcccctgg	8	6	10	17	3	1	0	1	0	0	0	4	0	3	0	6	3	3	0	6	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:461021C>T	ENST00000219481.5	+	7	744	c.606C>T	c.(604-606)cgC>cgT	p.R202R	DECR2_ENST00000461947.1_3'UTR|DECR2_ENST00000424398.2_Silent_p.R190R	NM_020664.3	NP_065715.1	Q9NUI1	DECR2_HUMAN	2,4-dienoyl CoA reductase 2, peroxisomal	202						peroxisome	2,4-dienoyl-CoA reductase (NADPH) activity|binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)	9		Hepatocellular(16;0.00015)				AAAACATCCGCGTCAACAGCC	0.642													T	461021	C	T	461021	2	4	364	1	0	0	0	0	0	0	0	1	4417	755	27	1		1	DECR2	16	461021	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5997	461021	89893732	11320	34822											
RAB11FIP3	9727	broad.mit.edu	37	chr16	560783	560783	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggagaagagcattgagatCgagaacctgcagaccaggta	15	5	14	7	1	0	5	0	1	0	5	1	8	0	5	2	2	3	3	2	2	3	2	rs143343068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:560783C>T	ENST00000262305.4	+	9	2011	c.1623C>T	c.(1621-1623)atC>atT	p.I541I	RAB11FIP3_ENST00000450428.1_Silent_p.I245I|RAB11FIP3_ENST00000457159.1_Silent_p.I586I	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	541	ARF-binding domain (ABD).				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GCATTGAGATCGAGAACCTGC	0.612													T	560783	C	T	560783	2	4	364	1	0	0	0	0	0	0	0	1	12983	874	31	1		1	RAB11FIP3	16	560783	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99762	560783	89793970	11321	34823											
RAB11FIP3	9727	broad.mit.edu	37	chr16	570584	570584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgcagagatcagctcCgtctcccgagatgaggtaac	9	8	12	12	2	2	3	1	1	1	2	4	5	3	3	2	2	3	4	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:570584C>T	ENST00000262305.4	+	13	2530	c.2142C>T	c.(2140-2142)tcC>tcT	p.S714S	RAB11FIP3_ENST00000450428.1_Silent_p.S418S|RAB11FIP3_ENST00000457159.1_Silent_p.S759S	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	714	FIP-RBD.				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				AGATCAGCTCCGTCTCCCGAG	0.597													T	570584	C	T	570584	2	4	364	1	0	0	0	0	0	0	0	1	12983	639	23	1		1	RAB11FIP3	16	570584	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9801	570584	89784169	11322	34824											
PIGQ	9091	broad.mit.edu	37	chr16	624613	624613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgctcttccgcagtgaccGctttgatgagggccccgtgc	4	10	14	13	3	1	3	0	3	1	0	2	3	2	3	4	2	2	3	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:624613G>A	ENST00000321878.5	+	2	698	c.539G>A	c.(538-540)cGc>cAc	p.R180H	PIGQ_ENST00000409527.2_Missense_Mutation_p.R180H|PIGQ_ENST00000026218.5_Missense_Mutation_p.R180H|PIGQ_ENST00000470411.2_Missense_Mutation_p.R180H	NM_004204.3	NP_004195.2	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	180					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CGCAGTGACCGCTTTGATGAG	0.701													A	624613	G	A	624613	3	1	364	1	0	0	0	0	1	0	0	0	11973	1087	38	1	541	1	PIGQ	16	624613	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54029	624613	89730140	11323	34825											
PIGQ	9091	broad.mit.edu	37	chr16	633101	633101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgctctgccagggtggCaccagctcagctggcgcatg	6	8	13	14	1	3	0	1	0	2	0	3	0	3	0	2	3	4	5	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633101C>A	ENST00000026218.5	+	10	1838	c.1750C>A	c.(1750-1752)Cac>Aac	p.H584N	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	584					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GCCAGGGTGGCACCAGCTCAG	0.637													A	633101	C	A	633101	3	1	364	1	0	0	0	0	1	0	0	0	11973	710	25	4	1850	4	PIGQ	16	633101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8488	633101	89721652	11324	34826											
PIGQ	9091	broad.mit.edu	37	chr16	633214	633214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgggagtgagcagatGtgggggtggccagccaggct	7	8	19	7	0	1	2	1	1	0	1	1	3	1	3	2	5	2	2	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:633214G>A	ENST00000026218.5	+	10	1951	c.1863G>A	c.(1861-1863)atG>atA	p.M621I	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	621					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				GTGAGCAGATGTGGGGGTGGC	0.642													A	633214	G	A	633214	3	1	364	1	0	0	0	0	1	0	0	0	11973	1377	48	2	1963	2	PIGQ	16	633214	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113	633214	89721539	11325	34827											
WDR90	197335	broad.mit.edu	37	chr16	716482	716482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttaggggtggagggcacaGacctatggctggctgccagt	8	8	16	9	0	0	1	0	0	0	1	0	2	0	2	2	6	1	3	2	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:716482G>T	ENST00000549091.1	+	38	4866	c.4774G>T	c.(4774-4776)Gac>Tac	p.D1592Y	WDR90_ENST00000293879.4_Missense_Mutation_p.D1590Y|WDR90_ENST00000547944.1_Missense_Mutation_p.D189Y|WDR90_ENST00000315764.4_Intron|WDR90_ENST00000547543.1_3'UTR	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1590										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GGAGGGCACAGACCTATGGCT	0.632													T	716482	G	T	716482	3	4	364	1	0	0	0	0	1	0	0	0	17439	942	33	4	4918	4	WDR90	16	716482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83268	716482	89638271	11326	34828											
RHOT2	89941	broad.mit.edu	37	chr16	721185	721185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatgccctggagctgactgCggactatctctcccctctgt	5	11	10	15	2	2	1	0	1	2	0	4	4	3	3	3	2	3	1	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:721185C>T	ENST00000315082.4	+	11	965	c.851C>T	c.(850-852)gCg>gTg	p.A284V		NM_138769.2	NP_620124.1	Q8IXI1	MIRO2_HUMAN	ras homolog family member T2	284					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|pancreas(2)|prostate(1)	13		Hepatocellular(780;0.0218)				GAGCTGACTGCGGACTATCTC	0.637													T	721185	C	T	721185	3	4	364	1	0	0	0	0	1	0	0	0	13433	768	27	1	893	1	RHOT2	16	721185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4703	721185	89633568	11327	34829											
RHBDL1	9028	broad.mit.edu	37	chr16	727827	727827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctgcgcttctccccgccGctgcccgcctcgggcccaca	2	7	11	21	5	1	0	0	0	1	0	3	0	1	0	6	2	2	3	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:727827G>A	ENST00000219551.2	+	7	1119	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	RHBDL1_ENST00000352681.3_Silent_p.P299P			O75783	RHBL1_HUMAN	rhomboid, veinlet-like 1 (Drosophila)	364					proteolysis|signal transduction	integral to plasma membrane|membrane fraction	calcium ion binding|serine-type endopeptidase activity			endometrium(1)|kidney(1)|lung(4)|urinary_tract(3)	9		Hepatocellular(780;0.0218)				TCTCCCCGCCGCTGCCCGCCT	0.736													A	727827	G	A	727827	2	1	364	1	0	0	0	0	0	0	0	1	13410	1074	38	1		1	RHBDL1	16	727827	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6642	727827	89626926	11328	34830											
STUB1	10273	broad.mit.edu	37	chr16	732441	732441	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaacttggctatgaaggaGgttattgacgcattcatctc	10	12	9	10	1	2	2	1	2	1	0	3	3	2	3	1	3	1	3	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:732441G>T	ENST00000565677.1	+	7	1255	c.648G>T	c.(646-648)gaG>gaT	p.E216D	STUB1_ENST00000564370.1_Missense_Mutation_p.E216D|STUB1_ENST00000219548.4_Missense_Mutation_p.E288D|JMJD8_ENST00000454700.1_3'UTR|JMJD8_ENST00000412368.2_3'UTR|JMJD8_ENST00000609261.1_3'UTR|JMJD8_ENST00000293882.4_3'UTR			Q9UNE7	CHIP_HUMAN	STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase	288					cellular response to misfolded protein|DNA repair|misfolded or incompletely synthesized protein catabolic process|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K63-linked ubiquitination|protein maturation|regulation of glucocorticoid metabolic process|ubiquitin-dependent SMAD protein catabolic process	cytoplasm|nuclear inclusion body|ubiquitin conjugating enzyme complex|ubiquitin ligase complex	Hsp70 protein binding|Hsp90 protein binding|kinase binding|misfolded protein binding|protein binding, bridging|protein homodimerization activity|SMAD binding|TPR domain binding|ubiquitin-ubiquitin ligase activity			endometrium(2)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	6		Hepatocellular(780;0.00335)				CTATGAAGGAGGTTATTGACG	0.597													T	732441	G	T	732441	3	4	364	1	0	0	0	0	1	0	0	0	15431	991	35	4	890	4	STUB1	16	732441	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4614	732441	89622312	11329	34831											
WDR24	84219	broad.mit.edu	37	chr16	737585	737585	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcggggtgccagtcgcaGcagaagacgggtccgttgtg	6	8	16	11	4	0	2	0	0	0	2	4	2	2	2	3	3	2	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:737585G>A	ENST00000293883.4	-	2	1395	c.636C>T	c.(634-636)tgC>tgT	p.C212C	WDR24_ENST00000248142.6_Silent_p.C342C	NM_032259.2	NP_115635.1	Q96S15	WDR24_HUMAN	WD repeat domain 24	298										breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(3)	19		Hepatocellular(780;0.0218)				GCCAGTCGCAGCAGAAGACGG	0.617													A	737585	G	A	737585	2	1	364	1	0	0	0	0	0	0	0	1	17383	963	34	2		2	WDR24	16	737585	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5144	737585	89617168	11330	34832											
CCDC78	124093	broad.mit.edu	37	chr16	774778	774778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttcagcctctgcctgaCggagctggccttggcagctg	5	11	12	13	1	2	1	1	1	1	0	2	2	2	2	3	3	4	3	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:774778C>T	ENST00000293889.6	-	8	773	c.668G>A	c.(667-669)cGt>cAt	p.R223H		NM_001031737.2	NP_001026907.2	A2IDD5	CCD78_HUMAN	coiled-coil domain containing 78	223										central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(2)|skin(3)	9		Hepatocellular(780;0.0218)				CTCTGCCTGACGGAGCTGGCC	0.647													T	774778	C	T	774778	3	4	364	1	0	0	0	0	1	0	0	0	2880	536	19	1	676	1	CCDC78	16	774778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37193	774778	89579975	11331	34833											
MSLN	10232	broad.mit.edu	37	chr16	812739	812739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggacccccgccctcggcaGcctcctgttcctgctcttca	3	10	9	19	2	2	0	1	0	1	0	5	1	4	1	6	2	2	3	6	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:812739G>T	ENST00000566549.1	+	2	476	c.59G>T	c.(58-60)aGc>aTc	p.S20I	MSLN_ENST00000545450.2_Missense_Mutation_p.S20I|MSLN_ENST00000382862.3_Missense_Mutation_p.S20I|MSLN_ENST00000563941.1_Missense_Mutation_p.S20I			Q13421	MSLN_HUMAN	mesothelin	20					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GCCCTCGGCAGCCTCCTGTTC	0.687													T	812739	G	T	812739	3	4	364	1	0	0	0	0	1	0	0	0	9957	971	34	4	61	4	MSLN	16	812739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37961	812739	89542014	11332	34834											
MSLNL	401827	broad.mit.edu	37	chr16	830489	830489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgaggctgtggatgcgtgCgggcacgcatgtgtaggtga	7	9	18	7	3	0	2	0	2	0	0	0	3	0	3	0	4	2	4	0	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:830489C>T	ENST00000293892.3	-	3	511	c.512G>A	c.(511-513)cGc>cAc	p.R171H	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane		p.R171H(1)		breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGGATGCGTGCGGGCACGCAT	0.552													T	830489	C	T	830489	3	4	364	1	0	0	0	0	1	0	0	0	9958	768	27	1	2705	1	MSLNL	16	830489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17750	830489	89524264	11333	34835											
CHTF18	63922	broad.mit.edu	37	chr16	846736	846736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacgtggaggaactctgcCgcttccctgagctgcctgcc	6	8	13	14	2	1	1	0	1	1	0	2	4	2	4	4	3	6	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846736C>T	ENST00000317063.6	+	21	3103	c.3103C>T	c.(3103-3105)Cgc>Tgc	p.R1035C	CHTF18_ENST00000262315.9_Missense_Mutation_p.R826C|CHTF18_ENST00000455171.2_Missense_Mutation_p.R854C			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	826					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				GGAACTCTGCCGCTTCCCTGA	0.682													T	846736	C	T	846736	3	4	364	1	0	0	0	0	1	0	0	0	3444	652	23	1	2550	1	CHTF18	16	846736	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16247	846736	89508017	11334	34836											
CHTF18	63922	broad.mit.edu	37	chr16	846797	846797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgaagcagctcatcgcccGcgagatcgaggtggagaaga	12	4	15	10	5	1	3	1	0	0	3	3	8	1	3	1	2	2	2	1	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:846797G>A	ENST00000317063.6	+	21	3164	c.3164G>A	c.(3163-3165)cGc>cAc	p.R1055H	CHTF18_ENST00000262315.9_Missense_Mutation_p.R846H|CHTF18_ENST00000455171.2_Missense_Mutation_p.R874H			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	846					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				CTCATCGCCCGCGAGATCGAG	0.657													A	846797	G	A	846797	3	1	364	1	0	0	0	0	1	0	0	0	3444	1087	38	1	2611	1	CHTF18	16	846797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61	846797	89507956	11335	34837											
LMF1	64788	broad.mit.edu	37	chr16	921309	921309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accatagtcagccagttcagGaagctgaggttcccgctgac	10	8	11	12	1	2	2	2	2	0	0	3	3	3	3	3	2	2	4	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:921309G>A	ENST00000262301.11	-	7	948	c.930C>T	c.(928-930)ttC>ttT	p.F310F	LMF1_ENST00000399843.2_Silent_p.F310F|LMF1_ENST00000543238.1_Silent_p.F73F|LMF1_ENST00000568268.1_5'UTR|LMF1_ENST00000568897.1_Silent_p.F93F	NM_022773.2	NP_073610.2	Q96S06	LMF1_HUMAN	lipase maturation factor 1	310						endoplasmic reticulum membrane|integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	18		Hepatocellular(780;0.00308)				GCCAGTTCAGGAAGCTGAGGT	0.652													A	921309	G	A	921309	2	1	364	1	0	0	0	0	0	0	0	1	8906	1165	41	2		2	LMF1	16	921309	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74512	921309	89433444	11336	34838											
CACNA1H	8912	broad.mit.edu	37	chr16	1250550	1250550	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacttcgacaacatcggctaCgcctggattgccatcttcca	10	10	7	14	3	1	0	0	0	1	0	4	2	2	1	3	2	4	1	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1250550C>T	ENST00000348261.5	+	7	1346	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y	CACNA1H_ENST00000358590.4_Silent_p.Y366Y|CACNA1H_ENST00000565831.1_Silent_p.Y366Y	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	366					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	ACATCGGCTACGCCTGGATTG	0.647													T	1250550	C	T	1250550	2	4	364	1	0	0	0	0	0	0	0	1	2571	547	19	1		1	CACNA1H	16	1250550	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329241	1250550	89104203	11337	34839											
CACNA1H	8912	broad.mit.edu	37	chr16	1260937	1260937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctgggtgttctgcgcGtgctgcgtctgctgcggacc	3	11	15	12	4	2	1	0	0	2	1	3	2	3	2	2	2	5	3	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1260937G>A	ENST00000348261.5	+	21	4437	c.4189G>A	c.(4189-4191)Gtg>Atg	p.V1397M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1397M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1397M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1397					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTCTGCGCGTGCTGCGTCT	0.682													A	1260937	G	A	1260937	3	1	364	1	0	0	0	0	1	0	0	0	2571	1145	40	1	4267	1	CACNA1H	16	1260937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10387	1260937	89093816	11338	34840											
CACNA1H	8912	broad.mit.edu	37	chr16	1262039	1262039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacatgttcgtgggcgtcGtggtcgagaacttccacaag	9	10	12	10	4	1	1	1	0	0	1	5	2	2	1	1	2	2	1	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1262039G>A	ENST00000348261.5	+	25	4908	c.4660G>A	c.(4660-4662)Gtg>Atg	p.V1554M	CACNA1H_ENST00000358590.4_Missense_Mutation_p.V1554M|CACNA1H_ENST00000565831.1_Missense_Mutation_p.V1554M	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1554					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.V1554L(4)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CGTGGGCGTCGTGGTCGAGAA	0.632													A	1262039	G	A	1262039	3	1	364	1	0	0	0	0	1	0	0	0	2571	1145	40	1	4754	1	CACNA1H	16	1262039	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1102	1262039	89092714	11339	34841											
CACNA1H	8912	broad.mit.edu	37	chr16	1266973	1266973	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctcctgttttttatCtatgctgcgctgggagtgga	5	17	11	8	1	2	0	1	0	1	0	3	2	3	2	1	2	3	4	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1266973C>A	ENST00000348261.5	+	31	5534	c.5286C>A	c.(5284-5286)atC>atA	p.I1762I	CACNA1H_ENST00000358590.4_Silent_p.I1756I|CACNA1H_ENST00000565831.1_Silent_p.I1756I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1762					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TGTTTTTTATCTATGCTGCGC	0.632													A	1266973	C	A	1266973	2	1	364	1	0	0	0	0	0	0	0	1	2571	903	32	4		4	CACNA1H	16	1266973	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4934	1266973	89087780	11340	34842											
UBE2I	7329	broad.mit.edu	37	chr16	1370528	1370528	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatttactggttagtagcAgccctggccccgctggtggc	6	10	13	12	2	0	0	0	0	0	0	0	1	0	0	3	4	3	4	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1370528A>G	ENST00000402301.1	+	5	459	c.423A>G	c.(421-423)gcA>gcG	p.A141A	LA16c-358B7.3_ENST00000568106.1_RNA|UBE2I_ENST00000397514.3_Intron|UBE2I_ENST00000355803.4_Intron|UBE2I_ENST00000397515.2_Intron|UBE2I_ENST00000566587.1_Intron|UBE2I_ENST00000406620.1_Intron|LA16c-358B7.3_ENST00000567829.1_RNA|UBE2I_ENST00000325437.5_Intron|UBE2I_ENST00000403747.2_Intron			P63279	UBC9_HUMAN	ubiquitin-conjugating enzyme E2I	0					cell division|chromosome segregation|interspecies interaction between organisms|mitosis|negative regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|protein sumoylation	cytoplasm|PML body|synaptonemal complex	ATP binding|enzyme binding|ubiquitin-protein ligase activity			breast(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	5		Hepatocellular(780;0.00369)				GGTTAGTAGCAGCCCTGGCCC	0.582													G	1370528	A	G	1370528	2	3	364	1	0	0	0	0	0	0	0	1	16961	203	7	3		3	UBE2I	16	1370528	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	103555	1370528	88984225	11341	34843											
BAIAP3	8938	broad.mit.edu	37	chr16	1397954	1397954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatctctttccactggtcCgcagccagaggacccaggtg	7	8	11	15	2	1	1	0	0	1	1	4	2	3	2	4	3	1	2	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1397954C>T	ENST00000324385.5	+	32	3348	c.3190C>T	c.(3190-3192)Cgc>Tgc	p.R1064C	BAIAP3_ENST00000421665.2_Missense_Mutation_p.R993C|BAIAP3_ENST00000568887.1_Missense_Mutation_p.R1001C|BAIAP3_ENST00000397488.2_Missense_Mutation_p.R1046C|BAIAP3_ENST00000397489.1_Missense_Mutation_p.R1046C|BAIAP3_ENST00000562208.1_Missense_Mutation_p.R1006C|BAIAP3_ENST00000426824.3_Missense_Mutation_p.R1029C	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	1064	C2 2.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TCCACTGGTCCGCAGCCAGAG	0.627													T	1397954	C	T	1397954	3	4	364	1	0	0	0	0	1	0	0	0	1309	652	23	1	3316	1	BAIAP3	16	1397954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27426	1397954	88956799	11342	34844											
GNPTG	84572	broad.mit.edu	37	chr16	1411752	1411752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtctcttccaggacccgtgCatctcttccgactctcgggc	4	11	10	16	3	3	0	0	0	3	0	8	2	5	1	3	3	1	1	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1411752C>T	ENST00000204679.4	+	4	230	c.187C>T	c.(187-189)Cat>Tat	p.H63Y		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	63						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				AGGACCCGTGCATCTCTTCCG	0.602													T	1411752	C	T	1411752	3	4	364	1	0	0	0	0	1	0	0	0	6602	710	25	2	201	2	GNPTG	16	1411752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13798	1411752	88943001	11343	34845											
GNPTG	84572	broad.mit.edu	37	chr16	1412896	1412896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcacggcatcccctacaCgaggcccacaggtgagtcac	10	4	10	17	2	1	1	1	1	0	0	2	2	2	1	4	3	2	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1412896C>T	ENST00000204679.4	+	10	855	c.812C>T	c.(811-813)aCg>aTg	p.T271M		NM_032520.4	NP_115909.1	Q9UJJ9	GNPTG_HUMAN	N-acetylglucosamine-1-phosphate transferase, gamma subunit	271						extracellular region|Golgi apparatus	protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7		Hepatocellular(780;0.0893)				ATCCCCTACACGAGGCCCACA	0.552													T	1412896	C	T	1412896	3	4	364	1	0	0	0	0	1	0	0	0	6602	536	19	1	850	1	GNPTG	16	1412896	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1144	1412896	88941857	11344	34846											
CLCN7	1186	broad.mit.edu	37	chr16	1504419	1504419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcccttacccaccacGcccatggcgatgaagaccgg	11	4	11	15	3	0	3	0	1	0	2	0	5	0	3	5	2	2	0	5	2	3	1	rs140154323		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1504419G>A	ENST00000382745.4	-	13	1751	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	CLCN7_ENST00000448525.1_Silent_p.G358G|CLCN7_ENST00000262318.8_Silent_p.G358G	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	382						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TACCCACCACGCCCATGGCGA	0.627													A	1504419	G	A	1504419	2	1	364	1	0	0	0	0	0	0	0	1	3499	1074	38	1		1	CLCN7	16	1504419	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91523	1504419	88850334	11345	34847											
PTX4	390667	broad.mit.edu	37	chr16	1537523	1537523	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggtcgggcccagctccTcaggctgggttggggttggg	3	8	21	9	1	1	0	1	0	0	0	3	1	2	1	2	8	1	4	2	8	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537523T>C	ENST00000447419.2	-	2	615	c.590A>G	c.(589-591)gAg>gGg	p.E197G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Missense_Mutation_p.E192G			Q96A99	PTX4_HUMAN	pentraxin 4, long	197						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						GCCCAGCTCCTCAGGCTGGGT	0.731													C	1537523	T	C	1537523	3	2	364	1	0	0	0	0	1	0	0	0	12911	1551	54	3	853	3	PTX4	16	1537523	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33104	1537523	88817230	11346	34848											
PTX4	390667	broad.mit.edu	37	chr16	1537618	1537618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagcagccagcctggcGccctggctgtggacgaggcc	6	5	15	15	2	0	1	0	0	0	1	1	3	1	2	5	4	3	2	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537618G>A	ENST00000447419.2	-	2	520	c.495C>T	c.(493-495)ggC>ggT	p.G165G	PTX4_ENST00000440447.2_Intron|PTX4_ENST00000293922.1_Silent_p.G160G			Q96A99	PTX4_HUMAN	pentraxin 4, long	165						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCAGCCTGGCGCCCTGGCTGT	0.736													A	1537618	G	A	1537618	2	1	364	1	0	0	0	0	0	0	0	1	12911	1074	38	1		1	PTX4	16	1537618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95	1537618	88817135	11347	34849											
PTX4	390667	broad.mit.edu	37	chr16	1537798	1537798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttcctcacccaggcCttgagctgcgccagctcccc	5	8	9	19	1	1	1	1	1	0	0	3	1	3	1	6	1	5	4	6	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1537798C>A	ENST00000447419.2	-	2	340	c.315G>T	c.(313-315)aaG>aaT	p.K105N	PTX4_ENST00000440447.2_Missense_Mutation_p.K105N|PTX4_ENST00000293922.1_Missense_Mutation_p.K100N			Q96A99	PTX4_HUMAN	pentraxin 4, long	105						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TCACCCAGGCCTTGAGCTGCG	0.701													A	1537798	C	A	1537798	3	1	364	1	0	0	0	0	1	0	0	0	12911	680	24	4	1128	4	PTX4	16	1537798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180	1537798	88816955	11348	34850											
IFT140	9742	broad.mit.edu	37	chr16	1570040	1570040	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagttctggtattcatcAatctccacctgtacagatga	10	14	7	10	1	4	2	2	1	2	1	6	2	4	2	2	1	1	4	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1570040A>G	ENST00000426508.2	-	29	4245	c.3882T>C	c.(3880-3882)atT>atC	p.I1294I	IFT140_ENST00000361339.5_Silent_p.I488I	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1294										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GGTATTCATCAATCTCCACCT	0.647													G	1570040	A	G	1570040	2	3	364	1	0	0	0	0	0	0	0	1	7614	126	5	3		3	IFT140	16	1570040	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32242	1570040	88784713	11349	34851											
TMEM204	79652	broad.mit.edu	37	chr16	1584372	1584372	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcacctccaactgggtgtgCcagacgctggaggatgggcg	7	8	15	11	2	1	1	1	0	0	1	2	3	2	3	3	4	2	1	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1584372C>T	ENST00000566264.1	+	1	799	c.96C>T	c.(94-96)tgC>tgT	p.C32C	IFT140_ENST00000426508.2_Intron|TMEM204_ENST00000253934.5_Silent_p.C32C	NM_024600.5	NP_078876.2	Q9BSN7	TM204_HUMAN	transmembrane protein 204	32					response to stress	adherens junction|integral to membrane				NS(1)|breast(1)|cervix(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Hepatocellular(780;0.219)				ACTGGGTGTGCCAGACGCTGG	0.701													T	1584372	C	T	1584372	2	4	364	1	0	0	0	0	0	0	0	1	16229	747	26	2		2	TMEM204	16	1584372	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14332	1584372	88770381	11350	34852											
IFT140	9742	broad.mit.edu	37	chr16	1630804	1630804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgactccaccgtgtaaaCgttttcttcatgcattgcta	8	16	7	10	2	2	1	1	1	1	0	3	1	3	1	2	0	3	5	2	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1630804C>T	ENST00000426508.2	-	13	1843	c.1480G>A	c.(1480-1482)Gtt>Att	p.V494I	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	494										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				ACCGTGTAAACGTTTTCTTCA	0.498													T	1630804	C	T	1630804	3	4	364	1	0	0	0	0	1	0	0	0	7614	536	19	1	2984	1	IFT140	16	1630804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46432	1630804	88723949	11351	34853											
CRAMP1L	57585	broad.mit.edu	37	chr16	1710039	1710039	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcagcaagaccttcccGcccagctctgcaccctgctc	7	6	8	20	2	1	1	0	0	1	1	3	1	2	1	4	0	5	6	4	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1710039G>A	ENST00000397412.3	+	11	2487	c.2388G>A	c.(2386-2388)ccG>ccA	p.P796P	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000436138.3_Silent_p.P793P|CRAMP1L_ENST00000262317.4_Silent_p.P174P|CRAMP1L_ENST00000293925.5_Silent_p.P796P			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	796						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						AGACCTTCCCGCCCAGCTCTG	0.682													A	1710039	G	A	1710039	2	1	364	1	0	0	0	0	0	0	0	1	3877	1074	38	1		1	CRAMP1L	16	1710039	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79235	1710039	88644714	11352	34854											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1797132	1797132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacatcctccgtgccctcgGccgccgtcacacccctcaac	6	6	6	23	4	2	0	2	0	0	0	5	0	4	0	8	1	2	0	8	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1797132G>A	ENST00000250894.4	+	6	1004	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	MAPK8IP3_ENST00000568271.1_3'UTR|MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.A283T	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	283					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						CGTGCCCTCGGCCGCCGTCAC	0.667													A	1797132	G	A	1797132	3	1	364	1	0	0	0	0	1	0	0	0	9361	1203	42	2	869	2	MAPK8IP3	16	1797132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87093	1797132	88557621	11353	34855											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1812999	1812999	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccggcccctggaattcttCcctgacgagtgagtgtcccg	6	9	12	14	3	1	2	0	2	1	0	3	4	3	3	5	2	1	0	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1812999C>A	ENST00000250894.4	+	16	2044	c.1887C>A	c.(1885-1887)ttC>ttA	p.F629L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.F623L	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	629					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGGAATTCTTCCCTGACGAGT	0.652													A	1812999	C	A	1812999	3	1	364	1	0	0	0	0	1	0	0	0	9361	854	30	4	1965	4	MAPK8IP3	16	1812999	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15867	1812999	88541754	11354	34856											
SPSB3	90864	broad.mit.edu	37	chr16	1827157	1827157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcgactgctggggtgggCggaggtcgctgcctggggat	3	8	20	10	4	0	0	0	0	0	0	2	3	0	2	1	7	2	2	1	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1827157C>T	ENST00000566339.1	-	7	1339	c.1009G>A	c.(1009-1011)Gcc>Acc	p.A337T	SPSB3_ENST00000301717.4_Missense_Mutation_p.A337T	NM_080861.3	NP_543137.2	Q6PJ21	SPSB3_HUMAN	splA/ryanodine receptor domain and SOCS box containing 3	337					intracellular signal transduction					endometrium(1)|kidney(4)|lung(3)|prostate(2)	10						CTGGGGTGGGCGGAGGTCGCT	0.672													T	1827157	C	T	1827157	3	4	364	1	0	0	0	0	1	0	0	0	15210	768	27	1	62	1	SPSB3	16	1827157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14158	1827157	88527596	11355	34857											
NUBP2	10101	broad.mit.edu	37	chr16	1837967	1837967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgtgggggacgtgaggcGcgagctgaccttctgtagga	6	8	18	9	4	1	2	0	2	1	0	2	5	2	4	2	4	1	2	2	4	1	2	rs143322275	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:1837967G>A	ENST00000262302.9	+	5	635	c.515G>A	c.(514-516)cGc>cAc	p.R172H	NUBP2_ENST00000568706.1_Missense_Mutation_p.R31H|NUBP2_ENST00000543305.1_Missense_Mutation_p.R31H|NUBP2_ENST00000565134.1_Missense_Mutation_p.R172H|NUBP2_ENST00000565987.1_Missense_Mutation_p.R112H	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	172						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GACGTGAGGCGCGAGCTGACC	0.682													A	1837967	G	A	1837967	3	1	364	1	0	0	0	0	1	0	0	0	10792	1087	38	1	533	1	NUBP2	16	1837967	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10810	1837967	88516786	11356	34858											
TBL3	10607	broad.mit.edu	37	chr16	2026095	2026095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttccggaaggggtggCtctttgccagctgtgccaag	6	11	15	9	1	1	0	0	0	1	0	2	1	2	1	3	4	3	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2026095C>T	ENST00000568546.1	+	12	1296	c.1168C>T	c.(1168-1170)Ctc>Ttc	p.L390F		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	390					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						GAAGGGGTGGCTCTTTGCCAG	0.627													T	2026095	C	T	2026095	3	4	364	1	0	0	0	0	1	0	0	0	15743	797	28	2	1214	2	TBL3	16	2026095	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188128	2026095	88328658	11357	34859											
TBL3	10607	broad.mit.edu	37	chr16	2027420	2027420	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagccgtggcacgcagctgCtgtccaggtgagtgggctgg	5	8	18	10	2	0	2	0	2	0	0	1	2	1	2	2	4	3	5	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2027420C>A	ENST00000568546.1	+	16	1863	c.1735C>A	c.(1735-1737)Ctg>Atg	p.L579M		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	579					G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						CACGCAGCTGCTGTCCAGGTG	0.657													A	2027420	C	A	2027420	3	1	364	1	0	0	0	0	1	0	0	0	15743	796	28	4	1797	4	TBL3	16	2027420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1325	2027420	88327333	11358	34860											
ZNF598	90850	broad.mit.edu	37	chr16	2048278	2048278	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggaggggaagtcgtcGtcccgggcagcatgcagcgc	7	5	18	11	4	0	0	0	0	0	0	3	2	1	2	1	4	4	4	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2048278G>A	ENST00000563630.1	-	12	2747	c.2505C>T	c.(2503-2505)gaC>gaT	p.D835D	AC005606.15_ENST00000567515.1_lincRNA|ZNF598_ENST00000431526.1_Silent_p.D890D|ZNF598_ENST00000562103.1_Silent_p.D835D			Q86UK7	ZN598_HUMAN	zinc finger protein 598	890						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						GGAAGTCGTCGTCCCGGGCAG	0.687													A	2048278	G	A	2048278	2	1	364	1	0	0	0	0	0	0	0	1	18129	1136	40	1		1	ZNF598	16	2048278	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20858	2048278	88306475	11359	34861											
ZNF598	90850	broad.mit.edu	37	chr16	2049731	2049731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgggggacaggtagcggGcgggggctgtggcaatgtgg	5	6	22	8	2	0	0	0	0	0	0	0	1	0	1	1	8	1	3	1	8	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2049731G>A	ENST00000563630.1	-	9	1896	c.1654C>T	c.(1654-1656)Ccc>Tcc	p.P552S	ZNF598_ENST00000431526.1_Missense_Mutation_p.P607S|ZNF598_ENST00000562103.1_Missense_Mutation_p.P552S			Q86UK7	ZN598_HUMAN	zinc finger protein 598	607						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CAGGTAGCGGGCGGGGGCTGT	0.642													A	2049731	G	A	2049731	3	1	364	1	0	0	0	0	1	0	0	0	18129	1203	42	2	911	2	ZNF598	16	2049731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1453	2049731	88305022	11360	34862											
ZNF598	90850	broad.mit.edu	37	chr16	2051688	2051688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcctcgtagtcttcGccaccaacgacccctgcggc	6	8	7	20	4	1	0	0	0	1	0	5	1	3	0	7	1	2	1	7	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2051688G>A	ENST00000563630.1	-	6	986	c.744C>T	c.(742-744)ggC>ggT	p.G248G	ZNF598_ENST00000431526.1_Silent_p.G303G|ZNF598_ENST00000562103.1_Silent_p.G248G			Q86UK7	ZN598_HUMAN	zinc finger protein 598	303						intracellular	zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|skin(1)|urinary_tract(1)	16						CGTAGTCTTCGCCACCAACGA	0.692													A	2051688	G	A	2051688	2	1	364	1	0	0	0	0	0	0	0	1	18129	1074	38	1		1	ZNF598	16	2051688	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1957	2051688	88303065	11361	34863											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2087922	2087922	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggctcgagccatgcgAgtcaacaagcgcgcgccaca	12	3	13	13	5	1	1	1	0	0	1	2	4	1	1	2	1	4	1	2	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2087922A>G	ENST00000424542.2	+	7	1089	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SLC9A3R2_ENST00000432365.2_Silent_p.R306R|SLC9A3R2_ENST00000566198.1_Silent_p.R206R|SLC9A3R2_ENST00000563587.1_Silent_p.R211R	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	317					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GAGCCATGCGAGTCAACAAGC	0.637													G	2087922	A	G	2087922	2	3	364	1	0	0	0	0	0	0	0	1	14809	291	11	3		3	SLC9A3R2	16	2087922	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36234	2087922	88266831	11362	34864											
NTHL1	4913	broad.mit.edu	37	chr16	2093650	2093650	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccggcagcgccaccagctcGgccacagaggctgggatgtc	7	4	14	16	3	0	1	0	0	0	1	2	2	0	2	4	4	2	3	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2093650G>A	ENST00000219066.1	-	4	645	c.627C>T	c.(625-627)gcC>gcT	p.A209A	NTHL1_ENST00000562951.1_5'UTR	NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	209					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CCACCAGCTCGGCCACAGAGG	0.622								Base excision repair (BER), DNA glycosylases					A	2093650	G	A	2093650	2	1	364	1	0	0	0	0	0	0	0	1	10774	1103	39	1		1	NTHL1	16	2093650	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5728	2093650	88261103	11363	34865											
NTHL1	4913	broad.mit.edu	37	chr16	2094713	2094713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaccgtcaggccccgcGcccgcagtcgctgcatggcg	4	6	13	18	6	1	0	1	0	0	0	3	0	2	0	5	2	1	3	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2094713G>A	ENST00000219066.1	-	3	485	c.467C>T	c.(466-468)gCg>gTg	p.A156V		NM_002528.5	NP_002519.1	P78549	NTHL1_HUMAN	nth endonuclease III-like 1 (E. coli)	156					depyrimidination|nucleotide-excision repair, DNA incision, 5'-to lesion	nucleoplasm	4 iron, 4 sulfur cluster binding|double-stranded DNA binding|endonuclease activity|metal ion binding|oxidized pyrimidine base lesion DNA N-glycosylase activity|protein binding			lung(1)	1						CAGGCCCCGCGCCCGCAGTCG	0.642								Base excision repair (BER), DNA glycosylases					A	2094713	G	A	2094713	3	1	364	1	0	0	0	0	1	0	0	0	10774	1087	38	1	487	1	NTHL1	16	2094713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1063	2094713	88260040	11364	34866											
TSC2	7249	broad.mit.edu	37	chr16	2105475	2105475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgctggtgaacttggtcaAattcaatagctgttacctcg	9	13	11	8	1	2	1	2	1	0	0	3	1	2	1	1	3	4	3	1	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2105475A>G	ENST00000219476.3	+	6	1184	c.554A>G	c.(553-555)aAa>aGa	p.K185R	TSC2_ENST00000568454.1_Missense_Mutation_p.K196R|TSC2_ENST00000439673.2_Missense_Mutation_p.K148R|TSC2_ENST00000353929.4_Missense_Mutation_p.K185R|TSC2_ENST00000401874.2_Missense_Mutation_p.K185R|TSC2_ENST00000382538.6_Missense_Mutation_p.K136R|TSC2_ENST00000350773.4_Missense_Mutation_p.K185R	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	185	Required for interaction with TSC1.				cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				AACTTGGTCAAATTCAATAGC	0.493			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				G	2105475	A	G	2105475	3	3	364	1	0	0	0	0	1	0	0	0	16707	14	1	3	572	3	TSC2	16	2105475	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10762	2105475	88249278	11365	34867											
TSC2	7249	broad.mit.edu	37	chr16	2125816	2125816	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagctctggccaggctgccGcacctctacaggaactttgc	7	8	11	15	1	2	0	0	0	2	0	2	1	2	1	3	3	5	4	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2125816G>A	ENST00000219476.3	+	23	3192	c.2562G>A	c.(2560-2562)ccG>ccA	p.P854P	TSC2_ENST00000568454.1_Silent_p.P865P|TSC2_ENST00000439673.2_Silent_p.P817P|TSC2_ENST00000353929.4_Silent_p.P854P|TSC2_ENST00000401874.2_Silent_p.P854P|TSC2_ENST00000382538.6_Silent_p.P805P|TSC2_ENST00000350773.4_Silent_p.P854P	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	854					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCAGGCTGCCGCACCTCTACA	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	2125816	G	A	2125816	2	1	364	1	0	0	0	0	0	0	0	1	16707	1074	38	1		1	TSC2	16	2125816	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20341	2125816	88228937	11366	34868											
PKD1	5310	broad.mit.edu	37	chr16	2140444	2140444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccgtagggcgccccAcagccgcagtgcccagagcc	7	2	12	20	3	0	1	0	0	0	1	0	1	0	1	8	1	4	2	8	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2140444A>G	ENST00000262304.4	-	45	12494	c.12286T>C	c.(12286-12288)Tgg>Cgg	p.W4096R	PKD1_ENST00000423118.1_Missense_Mutation_p.W4095R	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4096					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGGGCGCCCCACAGCCGCAGT	0.677													G	2140444	A	G	2140444	3	3	364	1	0	0	0	0	1	0	0	0	12040	159	6	3	633	3	PKD1	16	2140444	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14628	2140444	88214309	11367	34869											
PKD1	5310	broad.mit.edu	37	chr16	2153324	2153324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccgcagggttgctgctgtCcagggtgaccacagcaccga	7	6	15	13	2	0	1	0	1	0	0	1	2	1	1	4	3	3	5	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153324C>T	ENST00000262304.4	-	23	8942	c.8734G>A	c.(8734-8736)Gac>Aac	p.D2912N	PKD1_ENST00000423118.1_Missense_Mutation_p.D2912N	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2912					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TTGCTGCTGTCCAGGGTGACC	0.697													T	2153324	C	T	2153324	3	4	364	1	0	0	0	0	1	0	0	0	12040	855	30	2	4273	2	PKD1	16	2153324	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12880	2153324	88201429	11368	34870											
PKD1	5310	broad.mit.edu	37	chr16	2153459	2153459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgatggcgcgctctgaggCcagccgctcgatggggatct	5	8	17	11	4	2	2	0	2	2	0	3	4	2	3	2	5	1	2	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2153459C>T	ENST00000262304.4	-	23	8807	c.8599G>A	c.(8599-8601)Gcc>Acc	p.A2867T	PKD1_ENST00000423118.1_Missense_Mutation_p.A2867T	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2867					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CGCTCTGAGGCCAGCCGCTCG	0.642													T	2153459	C	T	2153459	3	4	364	1	0	0	0	0	1	0	0	0	12040	739	26	2	4408	2	PKD1	16	2153459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	135	2153459	88201294	11369	34871											
CASKIN1	57524	broad.mit.edu	37	chr16	2229990	2229990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcttggcccggatgcGcctcttgagtgtggcgctgg	2	12	16	11	3	2	1	0	1	2	0	2	2	2	2	2	4	2	3	2	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2229990G>A	ENST00000343516.6	-	18	3471	c.3379C>T	c.(3379-3381)Cgc>Tgc	p.R1127C		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	1127	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GCCCGGATGCGCCTCTTGAGT	0.682													A	2229990	G	A	2229990	3	1	364	1	0	0	0	0	1	0	0	0	2692	1087	38	1	928	1	CASKIN1	16	2229990	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76531	2229990	88124763	11370	34872											
CASKIN1	57524	broad.mit.edu	37	chr16	2231312	2231312	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgccgcgtggtggccctcGgggtgggtggcaggtggctg	1	8	21	11	3	0	0	0	0	0	0	1	0	0	0	3	8	1	2	3	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2231312G>A	ENST00000343516.6	-	18	2149	c.2057C>T	c.(2056-2058)cCg>cTg	p.P686L		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	686					signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGTGGCCCTCGGGGTGGGTGG	0.711													A	2231312	G	A	2231312	3	1	364	1	0	0	0	0	1	0	0	0	2692	1116	39	1	2250	1	CASKIN1	16	2231312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1322	2231312	88123441	11371	34873											
MLST8	64223	broad.mit.edu	37	chr16	2258236	2258236	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctatgtctggaatctgaCggggggcattggtgacgagg	7	10	17	7	2	2	2	0	2	2	0	2	4	2	3	0	6	1	2	0	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258236C>T	ENST00000569417.1	+	7	953	c.599C>T	c.(598-600)aCg>aTg	p.T200M	MLST8_ENST00000565250.1_Missense_Mutation_p.T200M|MLST8_ENST00000301724.10_Missense_Mutation_p.T200M|MLST8_ENST00000561651.1_Intron|MLST8_ENST00000564088.1_Missense_Mutation_p.T200M|MLST8_ENST00000301725.7_Intron|MLST8_ENST00000382450.4_Missense_Mutation_p.T199M|MLST8_ENST00000397124.1_Missense_Mutation_p.T200M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	200					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						TGGAATCTGACGGGGGGCATT	0.632													T	2258236	C	T	2258236	3	4	364	1	0	0	0	0	1	0	0	0	9709	536	19	1	621	1	MLST8	16	2258236	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26924	2258236	88096517	11372	34874											
MLST8	64223	broad.mit.edu	37	chr16	2258454	2258454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatgcccacccactaggctCctcgccacctgctcggctga	6	7	8	20	2	0	1	0	1	0	0	3	1	1	1	6	2	2	3	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2258454C>T	ENST00000301725.7	+	7	634	c.634C>T	c.(634-636)Cct>Tct	p.P212S	MLST8_ENST00000565250.1_Silent_p.L234L|MLST8_ENST00000301724.10_Silent_p.L234L|MLST8_ENST00000561651.1_3'UTR|MLST8_ENST00000564088.1_Silent_p.L234L|MLST8_ENST00000382450.4_Silent_p.L233L|MLST8_ENST00000397124.1_Silent_p.L234L|MLST8_ENST00000569417.1_Silent_p.L234L			Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	0					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						CCACTAGGCTCCTCGCCACCT	0.672													T	2258454	C	T	2258454	3	4	364	1	0	0	0	0	1	0	0	0	9709	842	30	2	728	2	MLST8	16	2258454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218	2258454	88096299	11373	34875											
E4F1	1877	broad.mit.edu	37	chr16	2284592	2284592	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtctccacagaacgcacaGcaggtgcacttcaggacaca	12	6	10	13	1	2	1	1	0	1	1	3	2	2	2	1	2	3	3	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2284592G>A	ENST00000301727.4	+	11	1650	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q	E4F1_ENST00000564139.1_Silent_p.Q534Q|E4F1_ENST00000565090.1_Intron	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	534	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						AGAACGCACAGCAGGTGCACT	0.647													A	2284592	G	A	2284592	2	1	364	1	0	0	0	0	0	0	0	1	4913	962	34	2		2	E4F1	16	2284592	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26138	2284592	88070161	11374	34876											
E4F1	1877	broad.mit.edu	37	chr16	2285119	2285119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaccagtgaggccacggAgatcatcgagggcacccaga	12	3	15	11	2	1	4	1	1	0	3	2	7	1	4	3	4	0	1	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2285119A>G	ENST00000301727.4	+	13	2021	c.1973A>G	c.(1972-1974)gAg>gGg	p.E658G	E4F1_ENST00000564139.1_Missense_Mutation_p.R641G|E4F1_ENST00000565090.1_Missense_Mutation_p.E481G	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	658					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCCACGGAGATCATCGAG	0.701													G	2285119	A	G	2285119	3	3	364	1	0	0	0	0	1	0	0	0	4913	304	11	3	2023	3	E4F1	16	2285119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	527	2285119	88069634	11375	34877											
ABCA3	21	broad.mit.edu	37	chr16	2333211	2333211	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgcctcctccggagggcGcagaggatgcccctgagtct	5	7	14	15	3	1	2	0	1	1	1	4	4	4	4	6	3	1	1	6	3	0	0	rs144957382		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2333211G>A	ENST00000301732.5	-	26	4711	c.4011C>T	c.(4009-4011)tgC>tgT	p.C1337C	ABCA3_ENST00000382381.3_Silent_p.C1279C	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	1337					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TCCGGAGGGCGCAGAGGATGC	0.662													A	2333211	G	A	2333211	2	1	364	1	0	0	0	0	0	0	0	1	33	1079	38	1		1	ABCA3	16	2333211	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48092	2333211	88021542	11376	34878											
ABCA3	21	broad.mit.edu	37	chr16	2348503	2348503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgggaaatttcataccCgctgatgtatgcccgtccac	8	11	9	13	2	1	1	1	1	0	0	3	2	3	2	4	1	2	2	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2348503C>T	ENST00000301732.5	-	15	2480	c.1780G>A	c.(1780-1782)Ggg>Agg	p.G594R	ABCA3_ENST00000382381.3_Missense_Mutation_p.G536R	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	594	ABC transporter 1.				response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				ATTTCATACCCGCTGATGTAT	0.587													T	2348503	C	T	2348503	3	4	364	1	0	0	0	0	1	0	0	0	33	652	23	1	3410	1	ABCA3	16	2348503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15292	2348503	88006250	11377	34879											
ABCA3	21	broad.mit.edu	37	chr16	2367363	2367363	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcaggaaggcgagcaccagGgaggggtcgctgcgggacag	10	2	20	9	3	0	0	0	0	0	0	1	4	0	3	1	6	3	3	1	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2367363G>T	ENST00000301732.5	-	10	1732	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	ABCA3_ENST00000382381.3_Silent_p.S344S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	344					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CGAGCACCAGGGAGGGGTCGC	0.622													T	2367363	G	T	2367363	2	4	364	1	0	0	0	0	0	0	0	1	33	1219	43	4		4	ABCA3	16	2367363	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18860	2367363	87987390	11378	34880											
ABCA3	21	broad.mit.edu	37	chr16	2369603	2369603	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcctcctttccttctcCtgcacgacagcacgggcaat	7	11	7	16	2	2	0	1	0	1	0	5	1	4	0	4	1	3	3	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2369603C>A	ENST00000301732.5	-	8	1552	c.852G>T	c.(850-852)caG>caT	p.Q284H	ABCA3_ENST00000382381.3_Missense_Mutation_p.Q284H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	284					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				TTTCCTTCTCCTGCACGACAG	0.607													A	2369603	C	A	2369603	3	1	364	1	0	0	0	0	1	0	0	0	33	680	24	4	4366	4	ABCA3	16	2369603	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2240	2369603	87985150	11379	34881											
CCNF	899	broad.mit.edu	37	chr16	2498892	2498892	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgaccatccgggaggcCgtatggctcacggacaacac	10	6	11	14	3	1	1	1	1	0	0	3	3	3	3	4	4	1	2	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2498892C>T	ENST00000397066.4	+	11	1219	c.1131C>T	c.(1129-1131)gcC>gcT	p.A377A		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	377	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				TCCGGGAGGCCGTATGGCTCA	0.587													T	2498892	C	T	2498892	2	4	364	1	0	0	0	0	0	0	0	1	2952	639	23	1		1	CCNF	16	2498892	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129289	2498892	87855861	11380	34882											
NTN3	4917	broad.mit.edu	37	chr16	2523469	2523469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgcccgtggcagctaccGcatcagcctaaagaagttct	10	8	9	14	2	2	1	1	0	1	1	2	1	2	1	4	1	4	4	4	1	4	3	rs140362721		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2523469G>A	ENST00000293973.1	+	5	1561	c.1358G>A	c.(1357-1359)cGc>cAc	p.R453H		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	453	NTR.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGCAGCTACCGCATCAGCCTA	0.617													A	2523469	G	A	2523469	3	1	364	1	0	0	0	0	1	0	0	0	10777	1087	38	1	1376	1	NTN3	16	2523469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24577	2523469	87831284	11381	34883											
TBC1D24	57465	broad.mit.edu	37	chr16	2547099	2547099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgaagcagaagggcatcaCcgtgaagcagaagaggtagg	14	4	15	8	1	1	5	1	2	0	3	1	5	1	5	2	3	2	4	2	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2547099C>T	ENST00000567020.1	+	2	1090	c.950C>T	c.(949-951)aCc>aTc	p.T317I	TBC1D24_ENST00000434757.2_Missense_Mutation_p.T317I|RP11-20I23.1_ENST00000564543.1_Missense_Mutation_p.T317I|TBC1D24_ENST00000293970.5_Missense_Mutation_p.T317I	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	317					neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						AAGGGCATCACCGTGAAGCAG	0.632													T	2547099	C	T	2547099	3	4	364	1	0	0	0	0	1	0	0	0	15711	507	18	2	952	2	TBC1D24	16	2547099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23630	2547099	87807654	11382	34884											
ATP6V0C	527	broad.mit.edu	37	chr16	2569642	2569642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgctggcgtgcggggcaccGcccagcagccccgactattc	6	5	13	17	5	0	0	0	0	0	0	1	1	0	0	4	3	3	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2569642G>A	ENST00000330398.4	+	3	598	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	ATP6V0C_ENST00000565223.1_Missense_Mutation_p.A79T|ATP6V0C_ENST00000568562.1_3'UTR|RP11-20I23.1_ENST00000564543.1_3'UTR|ATP6C_ENST00000569317.1_Intron|ATP6V0C_ENST00000564973.1_Missense_Mutation_p.A79T	NM_001198569.1|NM_001694.3	NP_001185498.1|NP_001685.1	P27449	VATL_HUMAN	ATPase, H+ transporting, lysosomal 16kDa, V0 subunit c	122					ATP hydrolysis coupled proton transport|ATP synthesis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|interspecies interaction between organisms|transferrin transport	endosome membrane|integral to membrane|proton-transporting ATP synthase complex, coupling factor F(o)|proton-transporting V-type ATPase, V0 domain|vacuolar membrane	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism|ubiquitin protein ligase binding			endometrium(1)|lung(1)|ovary(1)	3		Ovarian(90;0.17)				GCGGGGCACCGCCCAGCAGCC	0.672													A	2569642	G	A	2569642	3	1	364	1	0	0	0	0	1	0	0	0	1177	1087	38	1	374	1	ATP6V0C	16	2569642	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22543	2569642	87785111	11383	34885											
AMDHD2	51005	broad.mit.edu	37	chr16	2580303	2580303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcctggtgctggagggCagtatgggaggcaccagtgt	6	8	17	10	0	0	0	0	0	0	0	0	2	0	2	3	5	2	4	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2580303C>T	ENST00000413459.3	+	11	1397	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	AMDHD2_ENST00000302956.4_3'UTR|AMDHD2_ENST00000565570.1_3'UTR|CEMP1_ENST00000567119.1_3'UTR|CEMP1_ENST00000382350.1_3'UTR	NM_001145815.1	NP_001139287.1	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	222					N-acetylglucosamine metabolic process		N-acetylglucosamine-6-phosphate deacetylase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						TGCTGGAGGGCAGTATGGGAG	0.582													T	2580303	C	T	2580303	3	4	364	1	0	0	0	0	1	0	0	0	568	710	25	2	1408	2	AMDHD2	16	2580303	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10661	2580303	87774450	11384	34886											
SRRM2	23524	broad.mit.edu	37	chr16	2812116	2812116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagatctagaagcccccaGcgacgtggccgctctaggtc	9	6	13	13	3	2	2	0	0	2	2	3	4	2	3	3	3	2	1	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812116G>T	ENST00000301740.8	+	11	2136	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	529	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAAGCCCCCAGCGACGTGGCC	0.607													T	2812116	G	T	2812116	3	4	364	1	0	0	0	0	1	0	0	0	15265	962	34	4	1625	4	SRRM2	16	2812116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231813	2812116	87542637	11385	34887											
SRRM2	23524	broad.mit.edu	37	chr16	2812622	2812622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcggtctaggacaccaaGacgaggaagatcccgcagta	12	6	12	11	3	2	2	0	0	2	2	4	5	3	4	2	3	0	2	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2812622G>A	ENST00000301740.8	+	11	2642	c.2093G>A	c.(2092-2094)aGa>aAa	p.R698K		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	698	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AGGACACCAAGACGAGGAAGA	0.552													A	2812622	G	A	2812622	3	1	364	1	0	0	0	0	1	0	0	0	15265	942	33	2	2131	2	SRRM2	16	2812622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506	2812622	87542131	11386	34888											
SRRM2	23524	broad.mit.edu	37	chr16	2814399	2814399	+	Missense_Mutation	SNP	G	G	T																															cttgatcagagccagtcacaGgcttctttggaagcagtaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814399G>T	ENST00000301740.8	+	11	4419	c.3870G>T	c.(3868-3870)caG>caT	p.Q1290H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1290	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GCCAGTCACAGGCTTCTTTGG	0.453													T	2814399	G	T	2814399	3	4	364	1	0	0	0	0	1	0	0	0	15265	991	35	4	3908	4	SRRM2	16	2814399	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1777	2814399	87540354	11387	34889	100	2									
SRRM2	23524	broad.mit.edu	37	chr16	2814401	2814401	+	Missense_Mutation	SNP	C	C	T																															tgatcagagccagtcacaggCttctttggaagcagtagaag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:2814401C>T	ENST00000301740.8	+	11	4421	c.3872C>T	c.(3871-3873)gCt>gTt	p.A1291V		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1291	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGTCACAGGCTTCTTTGGAA	0.453													T	2814401	C	T	2814401	3	4	364	1	0	0	0	0	1	0	0	0	15265	797	28	2	3910	2	SRRM2	16	2814401	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2	2814401	87540352	11388	34890	100	2									
PAQR4	124222	broad.mit.edu	37	chr16	3021868	3021868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagatcatgcacctgctgagCgtgggctccatcctgcagct	7	9	11	14	1	1	2	1	1	0	1	3	2	3	2	3	1	5	5	3	1	0	0	rs142808297	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3021868C>T	ENST00000318782.8	+	3	1171	c.741C>T	c.(739-741)agC>agT	p.S247S	PAQR4_ENST00000572687.1_Silent_p.S173S|PAQR4_ENST00000574988.1_Silent_p.S180S|PAQR4_ENST00000576565.1_Silent_p.S180S|PKMYT1_ENST00000431515.2_Intron|PAQR4_ENST00000293978.8_Silent_p.S208S	NM_001284513.1|NM_152341.3	NP_001271442.1|NP_689554.2	Q8N4S7	PAQR4_HUMAN	progestin and adipoQ receptor family member IV	247						integral to membrane	receptor activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8						ACCTGCTGAGCGTGGGCTCCA	0.677													T	3021868	C	T	3021868	2	4	364	1	0	0	0	0	0	0	0	1	11513	767	27	1		1	PAQR4	16	3021868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207467	3021868	87332885	11389	34891											
PKMYT1	9088	broad.mit.edu	37	chr16	3024032	3024032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcccagttgctggagaGgctgctgtccaggagcaaac	9	8	13	11	0	1	1	1	0	0	1	3	3	3	2	2	3	4	5	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3024032G>A	ENST00000431515.2	-	7	1664	c.1279C>T	c.(1279-1281)Ctc>Ttc	p.L427F	PKMYT1_ENST00000262300.8_Missense_Mutation_p.L427F|PKMYT1_ENST00000574730.1_Missense_Mutation_p.L358F|PKMYT1_ENST00000440027.2_Missense_Mutation_p.L427F|PKMYT1_ENST00000573944.1_Missense_Mutation_p.L418F|PKMYT1_ENST00000574385.1_Missense_Mutation_p.L418F			Q99640	PMYT1_HUMAN	protein kinase, membrane associated tyrosine/threonine 1	427	Interaction with PIN1.			L -> F (in Ref. 1; AAB71843).	G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of mitosis	endoplasmic reticulum membrane|Golgi membrane|membrane fraction|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	10						TTGCTGGAGAGGCTGCTGTCC	0.662													A	3024032	G	A	3024032	3	1	364	1	0	0	0	0	1	0	0	0	12055	1000	35	2	270	2	PKMYT1	16	3024032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2164	3024032	87330721	11390	34892											
THOC6	79228	broad.mit.edu	37	chr16	3075782	3075782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtctcaccatgtgggaagtTtctggcggctggcaacaatt	8	11	12	10	2	2	0	1	0	2	0	3	1	2	1	1	4	1	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075782T>C	ENST00000326266.8	+	2	409	c.113T>C	c.(112-114)tTt>tCt	p.F38S	THOC6_ENST00000253952.9_Missense_Mutation_p.F38S|THOC6_ENST00000574549.1_Missense_Mutation_p.F14S|THOC6_ENST00000575576.1_Missense_Mutation_p.F14S	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	38					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTGGGAAGTTTCTGGCGGCT	0.582													C	3075782	T	C	3075782	3	2	364	1	0	0	0	0	1	0	0	0	15969	1841	64	3	119	3	THOC6	16	3075782	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	51750	3075782	87278971	11391	34893											
THOC6	79228	broad.mit.edu	37	chr16	3075971	3075971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaaagaggaaagtaagaagCcggtggtgactttccaaggt	14	7	13	7	1	0	3	0	1	0	2	1	4	1	4	3	4	1	1	3	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3075971C>A	ENST00000326266.8	+	3	498	c.202C>A	c.(202-204)Ccg>Acg	p.P68T	THOC6_ENST00000253952.9_Missense_Mutation_p.P68T|THOC6_ENST00000574549.1_Missense_Mutation_p.P44T|THOC6_ENST00000575576.1_Missense_Mutation_p.P44T	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	68					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						AAGTAAGAAGCCGGTGGTGAC	0.542													A	3075971	C	A	3075971	3	1	364	1	0	0	0	0	1	0	0	0	15969	739	26	4	212	4	THOC6	16	3075971	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189	3075971	87278782	11392	34894											
MMP25	64386	broad.mit.edu	37	chr16	3097548	3097548	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccggagaccggccgcatgGgtaggtggcccccacccctc	5	5	14	17	3	0	1	0	0	0	1	1	2	0	1	7	5	1	2	7	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3097548G>A	ENST00000336577.4	+	2	469	c.232G>A	c.(232-234)Gac>Aac	p.D78N	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	78					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						CGGCCGCATGGGTAGGTGGCC	0.667													A	3097548	G	A	3097548	5	1	364	1	0	0	0	0	0	0	1	0	9738	1246	43	2	238	2	MMP25	16	3097548	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21577	3097548	87257205	11393	34895											
MMP25	64386	broad.mit.edu	37	chr16	3100124	3100124	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgagcggcagcgtgtggaAgaagcgaaccctgacatgga	11	6	15	9	3	1	3	0	2	1	1	1	6	1	5	1	3	4	1	1	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3100124A>G	ENST00000336577.4	+	3	584	c.347A>G	c.(346-348)aAg>aGg	p.K116R	MMP25_ENST00000570755.1_3'UTR	NM_022468.4	NP_071913.1	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 25	116					inflammatory response|proteolysis	anchored to membrane|cell surface|plasma membrane|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	14						AGCGTGTGGAAGAAGCGAACC	0.706													G	3100124	A	G	3100124	3	3	364	1	0	0	0	0	1	0	0	0	9738	72	3	3	357	3	MMP25	16	3100124	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2576	3100124	87254629	11394	34896											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139434	3139434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctattgcggaaacggtggccGcaggtgtcgcaggcgtgggg	6	7	19	9	5	0	0	0	0	0	0	1	1	0	1	1	7	2	2	1	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3139434G>A	ENST00000252463.2	-	5	1923	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C	ZSCAN10_ENST00000538082.2_Silent_p.C530C|ZSCAN10_ENST00000575108.1_Silent_p.C273C	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	612					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						AACGGTGGCCGCAGGTGTCGC	0.711													A	3139434	G	A	3139434	2	1	364	1	0	0	0	0	0	0	0	1	18326	1079	38	1		1	ZSCAN10	16	3139434	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39310	3139434	87215319	11395	34897											
ZNF213	7760	broad.mit.edu	37	chr16	3187371	3187371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagattcctcctgggaacaGgaatctgcccagcatgagga	12	7	12	10	0	1	2	0	1	1	1	3	6	3	5	3	3	3	1	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3187371G>T	ENST00000396878.3	+	2	565	c.90G>T	c.(88-90)caG>caT	p.Q30H	ZNF213_ENST00000574902.1_Missense_Mutation_p.Q30H|ZNF213_ENST00000576416.1_Missense_Mutation_p.Q30H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	30					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CCTGGGAACAGGAATCTGCCC	0.617													T	3187371	G	T	3187371	3	4	364	1	0	0	0	0	1	0	0	0	17870	991	35	4	92	4	ZNF213	16	3187371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47937	3187371	87167382	11396	34898											
ZNF213	7760	broad.mit.edu	37	chr16	3190967	3190967	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggggctcggacctggcGcggcaccagcgcacgcacac	6	3	15	17	6	0	0	0	0	0	0	1	1	0	1	2	5	1	5	2	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3190967G>A	ENST00000396878.3	+	6	1474	c.999G>A	c.(997-999)gcG>gcA	p.A333A	ZNF213_ENST00000416391.2_Silent_p.A175A|ZNF213_ENST00000574902.1_Silent_p.A333A|ZNF213_ENST00000576416.1_Silent_p.A333A	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	333					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						CGGACCTGGCGCGGCACCAGC	0.706													A	3190967	G	A	3190967	2	1	364	1	0	0	0	0	0	0	0	1	17870	1074	38	1		1	ZNF213	16	3190967	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3596	3190967	87163786	11397	34899											
ZNF213	7760	broad.mit.edu	37	chr16	3191053	3191053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctcggacctggtgcGccaccaaggcgtgcacacgg	7	5	13	16	4	0	0	0	0	0	0	2	1	1	1	4	4	3	2	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3191053G>A	ENST00000396878.3	+	6	1560	c.1085G>A	c.(1084-1086)cGc>cAc	p.R362H	ZNF213_ENST00000416391.2_Missense_Mutation_p.R204H|ZNF213_ENST00000574902.1_Missense_Mutation_p.R362H|ZNF213_ENST00000576416.1_Missense_Mutation_p.R362H	NM_001134655.1|NM_004220.2	NP_001128127.1|NP_004211.1	O14771	ZN213_HUMAN	zinc finger protein 213	362					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	16						GACCTGGTGCGCCACCAAGGC	0.677													A	3191053	G	A	3191053	3	1	364	1	0	0	0	0	1	0	0	0	17870	1087	38	1	1103	1	ZNF213	16	3191053	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86	3191053	87163700	11398	34900											
OR1F1	4992	broad.mit.edu	37	chr16	3254318	3254318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggcagccccagcagcaGcatctcctctttgtgttctt	6	12	8	15	0	3	0	0	0	3	0	5	0	4	0	4	1	4	5	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3254318G>T	ENST00000304646.2	+	1	72	c.72G>T	c.(70-72)caG>caT	p.Q24H	AJ003147.9_ENST00000576468.1_RNA	NM_012360.1	NP_036492.1	O43749	OR1F1_HUMAN	olfactory receptor, family 1, subfamily F, member 1	24					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(7)	11						CCCAGCAGCAGCATCTCCTCT	0.592													T	3254318	G	T	3254318	3	4	364	1	0	0	0	0	1	0	0	0	11032	962	34	4	74	4	OR1F1	16	3254318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63265	3254318	87100435	11399	34901											
ZNF200	7752	broad.mit.edu	37	chr16	3273916	3273916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctttcgggtcttacaGgctgagtgggttttctcatg	4	17	12	8	1	3	1	1	1	3	0	5	1	3	1	0	3	2	3	0	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3273916G>T	ENST00000431561.3	-	5	1776	c.1164C>A	c.(1162-1164)gcC>gcA	p.A388A	ZNF200_ENST00000396870.4_Silent_p.A387A|ZNF200_ENST00000396868.3_Silent_p.A387A|ZNF200_ENST00000396871.4_Silent_p.A387A|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Silent_p.A388A|ZNF200_ENST00000575948.1_Silent_p.A387A	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						GGGTCTTACAGGCTGAGTGGG	0.483													T	3273916	G	T	3273916	2	4	364	1	0	0	0	0	0	0	0	1	17863	987	35	4		4	ZNF200	16	3273916	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19598	3273916	87080837	11400	34902											
ZNF200	7752	broad.mit.edu	37	chr16	3274160	3274160	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgagaacaggaataaGgtttctctcctgtatgaatt	13	12	8	8	0	1	2	0	2	1	1	3	4	2	3	1	2	1	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3274160G>T	ENST00000431561.3	-	5	1532	c.920C>A	c.(919-921)cCt>cAt	p.P307H	ZNF200_ENST00000396870.4_Missense_Mutation_p.P306H|ZNF200_ENST00000396868.3_Missense_Mutation_p.P306H|ZNF200_ENST00000396871.4_Missense_Mutation_p.P306H|AJ003147.9_ENST00000576468.1_RNA|ZNF200_ENST00000414144.2_Missense_Mutation_p.P307H|ZNF200_ENST00000575948.1_Missense_Mutation_p.P306H	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	307					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						ACAGGAATAAGGTTTCTCTCC	0.388													T	3274160	G	T	3274160	3	4	364	1	0	0	0	0	1	0	0	0	17863	1000	35	4	271	4	ZNF200	16	3274160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	244	3274160	87080593	11401	34903											
CLUAP1	23059	broad.mit.edu	37	chr16	3558334	3558334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactaagaagctttatcaaGcagatgggtatgcggtaaaa	16	9	10	6	1	1	2	1	0	0	2	1	2	1	2	0	2	3	4	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3558334G>A	ENST00000571025.1	+	4	315	c.265G>A	c.(265-267)Gca>Aca	p.A89T	CLUAP1_ENST00000417763.2_5'UTR|LA16c-306E5.3_ENST00000574423.2_RNA|CLUAP1_ENST00000576634.1_Missense_Mutation_p.A89T|CLUAP1_ENST00000341633.5_Missense_Mutation_p.A89T			Q96AJ1	CLUA1_HUMAN	clusterin associated protein 1	89						nucleus	protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)|urinary_tract(2)	16						GCTTTATCAAGCAGATGGGTA	0.393													A	3558334	G	A	3558334	3	1	364	1	0	0	0	0	1	0	0	0	3600	971	34	2	279	2	CLUAP1	16	3558334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284174	3558334	86796419	11402	34904											
NLRC3	197358	broad.mit.edu	37	chr16	3592765	3592765	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagccaccccaatggcatTtcctcttaagctgttgggaa	9	11	8	13	0	1	0	0	0	1	0	3	1	3	1	5	2	2	3	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3592765T>C	ENST00000301749.7	-	0	3355				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCAATGGCATTTCCTCTTAAG	0.557													C	3592765	T	C	3592765	1	2	364	0	1	0	0	0	0	0	0	0	10544	1841	64	3		3	NLRC3	16	3592765	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34431	3592765	86761988	11403	34905											
NLRC3	197358	broad.mit.edu	37	chr16	3614600	3614600	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggggtgcccgcccccgCgggtggcctccacctgtgtg	1	7	17	16	4	0	0	0	0	0	0	1	0	1	0	6	5	1	0	6	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3614600C>T	ENST00000301749.7	-	0	743				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA|NLRC3_ENST00000359128.5_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCGCCCCCGCGGGTGGCCTC	0.711													T	3614600	C	T	3614600	1	4	364	0	1	0	0	0	0	0	0	0	10544	768	27	1		1	NLRC3	16	3614600	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21835	3614600	86740153	11404	34906											
DNASE1	1773	broad.mit.edu	37	chr16	3706173	3706173	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctataaggagcgctacCtgttcgtgtacaggtgggtg	9	10	14	8	2	0	0	0	0	0	0	1	1	0	1	1	3	4	4	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3706173C>A	ENST00000246949.5	+	4	3516	c.307C>A	c.(307-309)Ctg>Atg	p.L103M	DNASE1_ENST00000414110.2_Silent_p.T23T|DNASE1_ENST00000407479.1_Missense_Mutation_p.L103M	NM_005223.3	NP_005214.2	P24855	DNAS1_HUMAN	deoxyribonuclease I	103					apoptosis|DNA catabolic process	extracellular region|nuclear envelope	actin binding|deoxyribonuclease I activity			lung(1)	1		Ovarian(90;0.0261)		Kidney(780;0.0556)	Dornase Alfa(DB00003)	GGAGCGCTACCTGTTCGTGTA	0.542													A	3706173	C	A	3706173	3	1	364	1	0	0	0	0	1	0	0	0	4699	680	24	4	317	4	DNASE1	16	3706173	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91573	3706173	86648580	11405	34907											
CREBBP	1387	broad.mit.edu	37	chr16	3781930	3781930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcattcttgctgtcgccCtgactgccctgcaacaacac	7	11	8	15	1	1	1	0	1	1	0	2	1	1	1	2	1	5	3	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3781930C>A	ENST00000262367.5	-	29	5546	c.4737G>T	c.(4735-4737)caG>caT	p.Q1579H	CREBBP_ENST00000382070.3_Missense_Mutation_p.Q1541H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1579	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		tgctgtcgCCCTGACTGCCCT	0.572			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						A	3781930	C	A	3781930	3	1	364	1	0	0	0	0	1	0	0	0	3892	680	24	4	2603	4	CREBBP	16	3781930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75757	3781930	86572823	11406	34908											
CREBBP	1387	broad.mit.edu	37	chr16	3786041	3786041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaagggtctgtacctcaGtggtttcactggctgcagtg	8	11	14	8	0	3	1	2	0	1	1	3	2	3	1	1	3	2	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3786041G>T	ENST00000262367.5	-	28	5533	c.4724C>A	c.(4723-4725)aCt>aAt	p.T1575N	CREBBP_ENST00000382070.3_Missense_Mutation_p.T1537N	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1575	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CTGTACCTCAGTGGTTTCACT	0.542			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3786041	G	T	3786041	3	4	364	1	0	0	0	0	1	0	0	0	3892	1029	36	4	2620	4	CREBBP	16	3786041	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4111	3786041	86568712	11407	34909											
CREBBP	1387	broad.mit.edu	37	chr16	3817888	3817888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctttaacttgggaagctCcttgcaaatcctcctccatc	8	14	5	14	0	1	0	0	0	1	0	6	1	5	1	4	1	3	2	4	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3817888C>T	ENST00000262367.5	-	16	3892	c.3083G>A	c.(3082-3084)gGa>gAa	p.G1028E	CREBBP_ENST00000382070.3_Missense_Mutation_p.G990E	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1028					cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TTGGGAAGCTCCTTGCAAATC	0.383			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3817888	C	T	3817888	3	4	364	1	0	0	0	0	1	0	0	0	3892	855	30	2	4309	2	CREBBP	16	3817888	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31847	3817888	86536865	11408	34910											
CREBBP	1387	broad.mit.edu	37	chr16	3843551	3843551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgctgctgtatcagtttgCgtttttcaggatctgcagtg	5	16	12	8	1	3	0	2	0	1	0	3	1	3	1	0	1	4	7	0	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3843551C>T	ENST00000262367.5	-	4	1861	c.1052G>A	c.(1051-1053)cGc>cAc	p.R351H	CREBBP_ENST00000382070.3_Missense_Mutation_p.R351H	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	351	Interaction with SRCAP.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TATCAGTTTGCGTTTTTCAGG	0.468			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						T	3843551	C	T	3843551	3	4	364	1	0	0	0	0	1	0	0	0	3892	768	27	1	6388	1	CREBBP	16	3843551	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25663	3843551	86511202	11409	34911											
CREBBP	1387	broad.mit.edu	37	chr16	3929833	3929833	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccggaccccctcctcacCtgtgctgtcattcgccgaga	5	8	9	19	3	2	1	2	0	0	1	4	3	3	2	7	1	1	1	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:3929833C>A	ENST00000262367.5	-	1	894	c.85G>T	c.(85-87)Gat>Tat	p.D29Y	CREBBP_ENST00000382070.3_Splice_Site_p.D29Y	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	29		Breakpoint for translocation to form MYST4-CREBBP.			cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCCTCCTCACCTGTGCTGTCA	0.672			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						A	3929833	C	A	3929833	5	1	364	1	0	0	0	0	0	0	1	0	3892	695	24	4	7367	4	CREBBP	16	3929833	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86282	3929833	86424920	11410	34912											
ADCY9	115	broad.mit.edu	37	chr16	4027578	4027578	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagctgagctggcagaaGttacagtagtgcacgacggc	11	6	15	9	2	0	2	0	1	0	1	0	4	0	3	0	3	4	6	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4027578G>A	ENST00000294016.3	-	9	3271	c.2733C>T	c.(2731-2733)aaC>aaT	p.N911N		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	911					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GCTGGCAGAAGTTACAGTAGT	0.662													A	4027578	G	A	4027578	2	1	364	1	0	0	0	0	0	0	0	1	301	1020	36	2		2	ADCY9	16	4027578	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97745	4027578	86327175	11411	34913											
ADCY9	115	broad.mit.edu	37	chr16	4029158	4029158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtgacatgggagtagaCggccagtgcgggaagcgaca	11	4	19	7	3	0	2	0	1	0	1	0	6	0	5	1	5	2	1	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029158C>T	ENST00000294016.3	-	8	3176	c.2638G>A	c.(2638-2640)Gtc>Atc	p.V880I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	880					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGGAGTAGACGGCCAGTGCG	0.572													T	4029158	C	T	4029158	3	4	364	1	0	0	0	0	1	0	0	0	301	536	19	1	1439	1	ADCY9	16	4029158	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1580	4029158	86325595	11412	34914											
ADCY9	115	broad.mit.edu	37	chr16	4029188	4029188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaagcgacaccaggatggCcccgatgcagtgacgtggta	10	5	16	10	3	0	1	0	1	0	0	0	5	0	3	3	4	2	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4029188C>T	ENST00000294016.3	-	8	3146	c.2608G>A	c.(2608-2610)Gcc>Acc	p.A870T		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	870					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						ACCAGGATGGCCCCGATGCAG	0.582													T	4029188	C	T	4029188	3	4	364	1	0	0	0	0	1	0	0	0	301	739	26	2	1469	2	ADCY9	16	4029188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30	4029188	86325565	11413	34915											
ADCY9	115	broad.mit.edu	37	chr16	4163952	4163952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcatgcccaggatgcCgcaaaggacggtgcccgtgt	7	7	12	15	3	1	0	1	0	0	0	2	2	2	2	5	3	3	1	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4163952C>T	ENST00000294016.3	-	2	2030	c.1492G>A	c.(1492-1494)Ggc>Agc	p.G498S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	498	Guanylate cyclase 1.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCCAGGATGCCGCAAAGGACG	0.562													T	4163952	C	T	4163952	3	4	364	1	0	0	0	0	1	0	0	0	301	652	23	1	2609	1	ADCY9	16	4163952	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134764	4163952	86190801	11414	34916											
TFAP4	7023	broad.mit.edu	37	chr16	4322672	4322672	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacacctacagagccctcCtatcacttctttctctgttt	8	15	3	15	0	3	1	1	0	2	1	5	1	4	1	3	0	3	1	3	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4322672C>A	ENST00000204517.6	-	1	404	c.76G>T	c.(76-78)Gga>Tga	p.G26*		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	26					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						CAGAGCCCTCCTATCACTTCT	0.622													A	4322672	C	A	4322672	4	1	364	1	0	0	0	0	0	1	0	0	15892	690	24	4	968	4	TFAP4	16	4322672	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	158720	4322672	86032081	11415	34917											
CORO7	79585	broad.mit.edu	37	chr16	4409612	4409612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatataggagcagctggcGctcactttggctgcaagggg	8	10	14	9	1	2	0	2	0	0	0	2	1	2	1	0	5	3	5	0	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4409612G>A	ENST00000251166.4	-	22	2264	c.2119C>T	c.(2119-2121)Cgc>Tgc	p.R707C	CORO7_ENST00000574025.1_Missense_Mutation_p.R622C|CORO7_ENST00000539968.1_Missense_Mutation_p.R487C|CORO7_ENST00000537233.2_Missense_Mutation_p.R689C|CORO7-PAM16_ENST00000572467.1_Missense_Mutation_p.R707C	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						AGCAGCTGGCGCTCACTTTGG	0.652											OREG0023580	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4409612	G	A	4409612	3	1	364	1	0	0	0	0	1	0	0	0	3790	1087	38	1	686	1	CORO7	16	4409612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86940	4409612	85945141	11416	34918											
CORO7	79585	broad.mit.edu	37	chr16	4412704	4412704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggagggcgtggagggCgaggtcagcgaactgggagg	8	4	23	6	3	1	0	1	0	0	0	1	5	1	3	0	8	2	1	0	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4412704C>T	ENST00000251166.4	-	15	1456	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	CORO7_ENST00000574025.1_Silent_p.S352S|CORO7_ENST00000539968.1_Silent_p.S217S|CORO7_ENST00000537233.2_Silent_p.S419S|CORO7_ENST00000423908.2_Silent_p.S269S|CORO7-PAM16_ENST00000572467.1_Silent_p.S437S	NM_024535.4	NP_078811.3			coronin 7											breast(3)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|prostate(2)|skin(2)|urinary_tract(2)	23						GCGTGGAGGGCGAGGTCAGCG	0.662													T	4412704	C	T	4412704	2	4	364	1	0	0	0	0	0	0	0	1	3790	755	27	1		1	CORO7	16	4412704	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3092	4412704	85942049	11417	34919											
DNAJA3	9093	broad.mit.edu	37	chr16	4487459	4487459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcccaaagccaaggagaaGttctcccagctggcagaagc	13	5	11	12	0	1	2	0	0	1	2	3	4	2	2	3	2	3	3	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4487459G>T	ENST00000262375.6	+	3	479	c.402G>T	c.(400-402)aaG>aaT	p.K134N	DNAJA3_ENST00000355296.4_Missense_Mutation_p.K134N|DNAJA3_ENST00000431375.2_Intron|DNAJA3_ENST00000572139.1_3'UTR	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	134	J.				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						CCAAGGAGAAGTTCTCCCAGC	0.443													T	4487459	G	T	4487459	3	4	364	1	0	0	0	0	1	0	0	0	4652	1020	36	4	412	4	DNAJA3	16	4487459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74755	4487459	85867294	11418	34920											
DNAJA3	9093	broad.mit.edu	37	chr16	4493049	4493049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggcccttttgtgatgcGttccacgtgtaggagatgtg	7	12	13	9	2	0	2	0	1	0	1	1	3	1	2	2	2	1	2	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4493049G>A	ENST00000262375.6	+	6	892	c.815G>A	c.(814-816)cGt>cAt	p.R272H	DNAJA3_ENST00000355296.4_Missense_Mutation_p.R272H|DNAJA3_ENST00000431375.2_Missense_Mutation_p.R119H	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	272					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TTTGTGATGCGTTCCACGTGT	0.502													A	4493049	G	A	4493049	3	1	364	1	0	0	0	0	1	0	0	0	4652	1145	40	1	837	1	DNAJA3	16	4493049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5590	4493049	85861704	11419	34921											
DNAJA3	9093	broad.mit.edu	37	chr16	4498835	4498835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccactacatccacatcaaGatacgagttccaaagtaagt	16	8	6	11	1	1	1	1	0	0	1	3	3	3	1	3	0	2	2	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4498835G>T	ENST00000262375.6	+	9	1304	c.1227G>T	c.(1225-1227)aaG>aaT	p.K409N	DNAJA3_ENST00000355296.4_Missense_Mutation_p.K409N|DNAJA3_ENST00000431375.2_Missense_Mutation_p.K256N	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	409					activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						TCCACATCAAGATACGAGTTC	0.592													T	4498835	G	T	4498835	3	4	364	1	0	0	0	0	1	0	0	0	4652	933	33	4	1261	4	DNAJA3	16	4498835	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5786	4498835	85855918	11420	34922											
NUDT16L1	84309	broad.mit.edu	37	chr16	4745007	4745007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacccagaaggaccgagtcGgaggcttccccaacttcctg	10	6	10	15	2	0	1	0	0	0	1	3	4	2	3	5	3	1	1	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4745007G>A	ENST00000586536.1	+	3	553	c.533G>A	c.(532-534)cGg>cAg	p.R178Q	NUDT16L1_ENST00000405142.1_3'UTR|NUDT16L1_ENST00000586252.1_Intron|NUDT16L1_ENST00000304301.6_Missense_Mutation_p.G155R	NM_001193452.1	NP_001180381.1	Q9BRJ7	SDOS_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 16-like 1	0	Interaction with PXN (By similarity).					cytoplasm	hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|skin(1)	4						GGACCGAGTCGGAGGCTTCCC	0.632													A	4745007	G	A	4745007	3	1	364	1	0	0	0	0	1	0	0	0	10809	1117	39	1	473	1	NUDT16L1	16	4745007	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246172	4745007	85609746	11421	34923											
C16orf71	146562	broad.mit.edu	37	chr16	4794893	4794893	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatggtgccgagcgcccaCaacaggctcatggaacagct	10	5	12	14	3	1	0	1	0	0	0	1	2	1	1	2	3	5	3	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4794893C>T	ENST00000299320.5	+	6	1402	c.924C>T	c.(922-924)caC>caT	p.H308H	C16orf71_ENST00000590191.1_Silent_p.H322H|RP11-127I20.7_ENST00000588099.1_RNA	NM_139170.2	NP_631909.2	Q8IYS4	CP071_HUMAN	chromosome 16 open reading frame 71	308										breast(1)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(1)	11						CGAGCGCCCACAACAGGCTCA	0.622													T	4794893	C	T	4794893	2	4	364	1	0	0	0	0	0	0	0	1	1844	477	17	2		2	C16orf71	16	4794893	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49886	4794893	85559860	11422	34924											
UBN1	29855	broad.mit.edu	37	chr16	4909942	4909942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttatgacaaggagaagaaatCgaaaaagtccaagttttcca	18	9	8	6	1	0	3	0	1	0	2	3	5	2	3	2	1	0	1	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4909942C>T	ENST00000396658.4	+	5	1347	c.644C>T	c.(643-645)tCg>tTg	p.S215L	UBN1_ENST00000262376.6_Missense_Mutation_p.S215L|UBN1_ENST00000545171.1_Missense_Mutation_p.S215L|UBN1_ENST00000590769.1_Missense_Mutation_p.S215L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	215	Lys-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						GAGAAGAAATCGAAAAAGTCC	0.453													T	4909942	C	T	4909942	3	4	364	1	0	0	0	0	1	0	0	0	16994	893	31	1	662	1	UBN1	16	4909942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115049	4909942	85444811	11423	34925											
UBN1	29855	broad.mit.edu	37	chr16	4925419	4925419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagttagtagtgtgacatCgtctacctccttgtcagtga	8	14	10	9	1	2	2	1	2	1	0	4	2	3	2	2	0	2	3	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4925419C>T	ENST00000396658.4	+	14	3711	c.3008C>T	c.(3007-3009)tCg>tTg	p.S1003L	UBN1_ENST00000262376.6_Missense_Mutation_p.S1003L|UBN1_ENST00000545171.1_Missense_Mutation_p.S1003L|UBN1_ENST00000590769.1_Missense_Mutation_p.S1003L	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1003	Ser-rich.				chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						AGTGTGACATCGTCTACCTCC	0.597													T	4925419	C	T	4925419	3	4	364	1	0	0	0	0	1	0	0	0	16994	893	31	1	3062	1	UBN1	16	4925419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15477	4925419	85429334	11424	34926											
PPL	5493	broad.mit.edu	37	chr16	4933512	4933512	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatggagaacttcttgccaGacttcctgtcgtgtatcact	8	13	9	11	2	2	2	1	0	1	2	4	4	3	2	2	1	2	1	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4933512G>T	ENST00000345988.2	-	22	5233	c.5144C>A	c.(5143-5145)tCt>tAt	p.S1715Y	PPL_ENST00000590782.2_Missense_Mutation_p.S1713Y	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1715					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CTTCTTGCCAGACTTCCTGTC	0.542													T	4933512	G	T	4933512	3	4	364	1	0	0	0	0	1	0	0	0	12416	942	33	4	130	4	PPL	16	4933512	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8093	4933512	85421241	11425	34927											
PPL	5493	broad.mit.edu	37	chr16	4934269	4934269	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttccagctggagtcGgagcagggcatgctctcgcg	5	10	13	13	3	3	0	0	0	3	0	6	2	4	2	1	3	3	4	1	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:4934269G>A	ENST00000345988.2	-	22	4476	c.4387C>T	c.(4387-4389)Cga>Tga	p.R1463*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R1461*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1463					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						AGCTGGAGTCGGAGCAGGGCA	0.647													A	4934269	G	A	4934269	4	1	364	1	0	0	0	0	0	1	0	0	12416	1124	39	1	887	1	PPL	16	4934269	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	757	4934269	85420484	11426	34928											
SEC14L5	9717	broad.mit.edu	37	chr16	5046882	5046882	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaagatgagcacatccttcgGttcctgcgggctcatgactt	9	11	10	11	2	1	3	1	2	0	1	4	3	3	3	2	2	2	3	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5046882G>A	ENST00000251170.7	+	8	987	c.807G>A	c.(805-807)cgG>cgA	p.R269R		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	269						integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						ACATCCTTCGGTTCCTGCGGG	0.542													A	5046882	G	A	5046882	2	1	364	1	0	0	0	0	0	0	0	1	14078	1248	44	2		2	SEC14L5	16	5046882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112613	5046882	85307871	11427	34929											
NAGPA	51172	broad.mit.edu	37	chr16	5078081	5078081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtgcattggcagtgcccGtccacgcaggtcccgtggcc	4	7	14	16	4	0	0	0	0	0	0	2	0	2	0	5	4	2	3	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:5078081G>A	ENST00000312251.3	-	6	1045	c.1026C>T	c.(1024-1026)gaC>gaT	p.D342D	NAGPA_ENST00000381955.3_Silent_p.D342D|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	342					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	GGCAGTGCCCGTCCACGCAGG	0.672													A	5078081	G	A	5078081	2	1	364	1	0	0	0	0	0	0	0	1	10220	1136	40	1		1	NAGPA	16	5078081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31199	5078081	85276672	11428	34930											
USP7	7874	broad.mit.edu	37	chr16	8988700	8988700	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattcgcttcatcacttctcGaaaatgctcgccctagaatg	10	12	7	12	3	3	1	2	0	1	1	6	3	3	1	1	0	1	2	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8988700G>A	ENST00000344836.4	-	29	3250	c.3052C>T	c.(3052-3054)Cga>Tga	p.R1018*	USP7_ENST00000535863.1_Nonsense_Mutation_p.R919*|USP7_ENST00000381886.4_Nonsense_Mutation_p.R1002*	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	1018					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ATCACTTCTCGAAAATGCTCG	0.592													A	8988700	G	A	8988700	4	1	364	1	0	0	0	0	0	1	0	0	17190	1066	37	1	268	1	USP7	16	8988700	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3910619	8988700	81366053	11429	34931											
USP7	7874	broad.mit.edu	37	chr16	8998370	8998370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttctcttcttgtaatcgCtccaccaactgctgaggaat	8	15	6	12	1	2	1	0	1	2	0	5	2	3	2	2	1	2	3	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:8998370C>A	ENST00000344836.4	-	15	1824	c.1626G>T	c.(1624-1626)gaG>gaT	p.E542D	USP7_ENST00000535863.1_Missense_Mutation_p.E443D|USP7_ENST00000381886.4_Missense_Mutation_p.E526D	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	542					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						CTTGTAATCGCTCCACCAACT	0.547													A	8998370	C	A	8998370	3	1	364	1	0	0	0	0	1	0	0	0	17190	796	28	4	1750	4	USP7	16	8998370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9670	8998370	81356383	11430	34932											
USP7	7874	broad.mit.edu	37	chr16	9004625	9004625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagccatgttccccagcgtCgtatttattgtccccatcga	8	13	7	13	3	0	0	0	0	0	0	4	1	2	0	5	0	2	2	5	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9004625C>T	ENST00000344836.4	-	11	1336	c.1138G>A	c.(1138-1140)Gac>Aac	p.D380N	USP7_ENST00000535863.1_Missense_Mutation_p.D281N|USP7_ENST00000381886.4_Missense_Mutation_p.D364N	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	380					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAGCGTCGTATTTATTG	0.363													T	9004625	C	T	9004625	3	4	364	1	0	0	0	0	1	0	0	0	17190	884	31	1	2254	1	USP7	16	9004625	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6255	9004625	81350128	11431	34933											
USP7	7874	broad.mit.edu	37	chr16	9010900	9010901	+	Frame_Shift_Ins	INS	-	-	T																															acccaaatgactttgttaacINSttttttgttcctacaggttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9010900_9010901insT	ENST00000344836.4	-	7	1031_1032	c.833_834insA	c.(832-834)aagfs	p.K278fs	USP7_ENST00000535863.1_Frame_Shift_Ins_p.K179fs|USP7_ENST00000381886.4_Frame_Shift_Ins_p.K262fs	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	278					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						ACTTTGTTAACTTTTTTGTTCC	0.361													T	9010901	-	T	9010900	7	5	364	1	0	1	1	0	0	0	0	0	17190	564	20	0	2574	0	USP7	16	9010900	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	6275	9010900	81343853	11432	34934											
GRIN2A	2903	broad.mit.edu	37	chr16	9857312	9857312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtggaggaaagggttatcGgaggtgtggtctggcaagag	10	8	20	3	1	1	1	0	0	1	1	2	5	1	4	0	7	0	2	0	7	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:9857312G>A	ENST00000396573.2	-	14	4398	c.4089C>T	c.(4087-4089)tcC>tcT	p.S1363S	GRIN2A_ENST00000330684.3_Silent_p.S1363S|GRIN2A_ENST00000404927.2_Intron|GRIN2A_ENST00000562109.1_Intron|GRIN2A_ENST00000535259.1_Intron|GRIN2A_ENST00000396575.2_Silent_p.S1363S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1363					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.S1363S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AAGGGTTATCGGAGGTGTGGT	0.557													A	9857312	G	A	9857312	2	1	364	1	0	0	0	0	0	0	0	1	6834	1103	39	1		1	GRIN2A	16	9857312	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	846412	9857312	80497441	11433	34935											
EMP2	2013	broad.mit.edu	37	chr16	10626797	10626797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatcaggtacatcatgcCgctgatgaaggtgcaggcga	11	8	13	9	2	2	2	2	2	0	0	2	3	2	2	1	3	3	4	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10626797C>T	ENST00000359543.3	-	5	678	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	EMP2_ENST00000536829.1_Missense_Mutation_p.G157S	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	157					cell proliferation	integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						TACATCATGCCGCTGATGAAG	0.502													T	10626797	C	T	10626797	3	4	364	1	0	0	0	0	1	0	0	0	5143	652	23	1	38	1	EMP2	16	10626797	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	769485	10626797	79727956	11434	34936											
TEKT5	146279	broad.mit.edu	37	chr16	10721459	10721459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgtggcccaccaggCgcggggtgcaggggaaggtc	6	5	19	11	2	1	0	1	0	0	0	2	1	1	1	2	8	1	1	2	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10721459C>T	ENST00000283025.2	-	7	1510	c.1439G>A	c.(1438-1440)cGc>cAc	p.R480H	TEKT5_ENST00000574923.1_5'UTR	NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	480					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						GCCCACCAGGCGCGGGGTGCA	0.567													T	10721459	C	T	10721459	3	4	364	1	0	0	0	0	1	0	0	0	15856	768	27	1	22	1	TEKT5	16	10721459	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94662	10721459	79633294	11435	34937											
TEKT5	146279	broad.mit.edu	37	chr16	10775890	10775890	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtggaagaagctgatgcAgtctgacgtatttctcaggt	9	11	13	8	2	2	3	1	2	2	1	3	4	2	4	1	2	2	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:10775890A>T	ENST00000283025.2	-	4	894	c.823T>A	c.(823-825)Tgc>Agc	p.C275S		NM_144674.1	NP_653275.1	Q96M29	TEKT5_HUMAN	tektin 5	275					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)	34						AAGCTGATGCAGTCTGACGTA	0.542													T	10775890	A	T	10775890	3	4	364	1	0	0	0	0	1	0	0	0	15856	188	7	5	650	5	TEKT5	16	10775890	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54431	10775890	79578863	11436	34938											
CLEC16A	23274	broad.mit.edu	37	chr16	11066886	11066886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcattgggagccatgtgatCgaactcgatgactgcgtgca	9	11	12	9	3	1	2	1	2	0	0	3	5	1	3	1	1	4	1	1	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11066886C>T	ENST00000409790.1	+	7	926	c.696C>T	c.(694-696)atC>atT	p.I232I	CLEC16A_ENST00000409552.3_Silent_p.I230I	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	232										breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						GCCATGTGATCGAACTCGATG	0.483													T	11066886	C	T	11066886	2	4	364	1	0	0	0	0	0	0	0	1	3531	874	31	1		1	CLEC16A	16	11066886	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290996	11066886	79287867	11437	34939											
CLEC16A	23274	broad.mit.edu	37	chr16	11219841	11219841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtttgaccgtagccctcCtggacctcccaatccagccc	7	10	7	17	1	0	1	0	1	0	0	3	2	3	2	7	1	2	2	7	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11219841C>A	ENST00000409790.1	+	22	2709	c.2479C>A	c.(2479-2481)Ctg>Atg	p.L827M	CLEC16A_ENST00000409552.3_Missense_Mutation_p.L809M	NM_015226.2	NP_056041.1	Q2KHT3	CL16A_HUMAN	C-type lectin domain family 16, member A	827								p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						CGTAGCCCTCCTGGACCTCCC	0.607													A	11219841	C	A	11219841	3	1	364	1	0	0	0	0	1	0	0	0	3531	680	24	4	2561	4	CLEC16A	16	11219841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152955	11219841	79134912	11438	34940											
SNN	8303	broad.mit.edu	37	chr16	11769944	11769944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaccacagccccaccaCgggcgtggtcacagtcatcg	9	6	11	15	3	2	0	2	0	0	0	3	1	2	1	4	3	1	0	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11769944C>T	ENST00000329565.5	+	2	241	c.29C>T	c.(28-30)aCg>aTg	p.T10M		NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	10					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						AGCCCCACCACGGGCGTGGTC	0.637													T	11769944	C	T	11769944	3	4	364	1	0	0	0	0	1	0	0	0	14943	536	19	1	31	1	SNN	16	11769944	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	550103	11769944	78584809	11439	34941											
SNN	8303	broad.mit.edu	37	chr16	11770176	11770176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacggcccggaagtccaCggctgagccaggatgcaagg	10	3	14	14	3	0	1	0	1	0	0	1	3	1	3	4	5	3	2	4	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11770176C>T	ENST00000329565.5	+	2	473	c.261C>T	c.(259-261)caC>caT	p.H87H		NM_003498.5	NP_003489.1	O75324	SNN_HUMAN	stannin	87					response to abiotic stimulus|response to stress	integral to membrane|mitochondrial outer membrane				endometrium(1)	1						CGGAAGTCCACGGCTGAGCCA	0.622													T	11770176	C	T	11770176	2	4	364	1	0	0	0	0	0	0	0	1	14943	535	19	1		1	SNN	16	11770176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232	11770176	78584577	11440	34942											
TXNDC11	51061	broad.mit.edu	37	chr16	11785171	11785171	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagcttcatcagtgcttgCtttggatccaagatgtaatg	9	14	11	7	0	2	2	2	1	0	1	3	3	3	3	1	1	3	4	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11785171C>T	ENST00000356957.3	-	9	2063	c.1956G>A	c.(1954-1956)aaG>aaA	p.K652K	TXNDC11_ENST00000283033.5_Silent_p.K625K			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	652	Thioredoxin 2.				cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TCAGTGCTTGCTTTGGATCCA	0.428													T	11785171	C	T	11785171	2	4	364	1	0	0	0	0	0	0	0	1	16894	796	28	2		2	TXNDC11	16	11785171	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14995	11785171	78569582	11441	34943											
ZC3H7A	29066	broad.mit.edu	37	chr16	11846564	11846564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgttgggaagcggtgcTgccagcagtactggtcgtcc	6	9	15	11	2	0	0	0	0	0	0	2	1	1	1	3	3	6	4	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11846564T>C	ENST00000396516.2	-	21	2884	c.2687A>G	c.(2686-2688)cAg>cGg	p.Q896R	ZC3H7A_ENST00000575984.1_Missense_Mutation_p.Q92R|ZC3H7A_ENST00000355758.4_Missense_Mutation_p.Q896R			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	896						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GAAGCGGTGCTGCCAGCAGTA	0.468													C	11846564	T	C	11846564	3	2	364	1	0	0	0	0	1	0	0	0	17673	1580	55	3	236	3	ZC3H7A	16	11846564	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	61393	11846564	78508189	11442	34944											
ZC3H7A	29066	broad.mit.edu	37	chr16	11861426	11861426	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggtaagtgaaatccattaActtagggcctgaaaaagatg	16	10	10	5	0	0	3	0	2	0	1	1	3	1	3	2	2	1	1	2	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11861426A>G	ENST00000396516.2	-	12	1566	c.1369T>C	c.(1369-1371)Tta>Cta	p.L457L	ZC3H7A_ENST00000355758.4_Silent_p.L457L			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	457						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						AAATCCATTAACTTAGGGCCT	0.294													G	11861426	A	G	11861426	2	3	364	1	0	0	0	0	0	0	0	1	17673	40	2	3		3	ZC3H7A	16	11861426	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14862	11861426	78493327	11443	34945											
GSPT1	2935	broad.mit.edu	37	chr16	11981501	11981501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggccaggggcatctaGaattgtgaaatgcttctttt	8	15	11	7	0	2	2	0	1	2	1	2	2	2	2	1	3	1	2	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:11981501G>T	ENST00000434724.2	-	7	1082	c.883C>A	c.(883-885)Cta>Ata	p.L295I	GSPT1_ENST00000420576.2_Missense_Mutation_p.L157I|GSPT1_ENST00000563468.1_Missense_Mutation_p.L157I|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000439887.2_Missense_Mutation_p.L294I	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	157					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						GGGGCATCTAGAATTGTGAAA	0.448													T	11981501	G	T	11981501	3	4	364	1	0	0	0	0	1	0	0	0	6881	933	33	4	1066	4	GSPT1	16	11981501	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120075	11981501	78373252	11444	34946											
TNFRSF17	608	broad.mit.edu	37	chr16	12061576	12061576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggtcgactctgaccatTgctttccactcccagctatg	8	11	8	14	2	1	1	0	1	1	0	4	3	3	1	3	1	2	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:12061576T>C	ENST00000053243.1	+	3	645	c.427T>C	c.(427-429)Tgc>Cgc	p.C143R	TNFRSF17_ENST00000396495.3_Missense_Mutation_p.C94R|RP11-166B2.1_ENST00000532936.1_Intron	NM_001192.2	NP_001183.2	Q02223	TNR17_HUMAN	tumor necrosis factor receptor superfamily, member 17	143					cell proliferation|multicellular organismal development	endomembrane system|integral to membrane|plasma membrane				large_intestine(3)|lung(3)	6						CTCTGACCATTGCTTTCCACT	0.502			T	IL2	intestinal T-cell lymphoma								C	12061576	T	C	12061576	3	2	364	1	0	0	0	0	1	0	0	0	16390	1812	63	3	437	3	TNFRSF17	16	12061576	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80075	12061576	78293177	11445	34947											
ERCC4	2072	broad.mit.edu	37	chr16	14029554	14029554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcagagctaacctttgttCggcagcttgaaatttacagg	11	11	10	9	2	0	2	0	1	0	1	1	2	0	2	1	2	4	5	1	2	3	6	rs147105770	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14029554C>T	ENST00000311895.7	+	8	1774	c.1765C>T	c.(1765-1767)Cgg>Tgg	p.R589W		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	589					double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity	p.R589W(1)		NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						AACCTTTGTTCGGCAGCTTGA	0.478			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	14029554	C	T	14029554	3	4	364	1	0	0	0	0	1	0	0	0	5256	875	31	1	1795	1	ERCC4	16	14029554	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1967978	14029554	76325199	11446	34948											
MKL2	57496	broad.mit.edu	37	chr16	14307467	14307467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaacttgtcaggatgcaCattttagaaggtaaaggatt	13	13	10	5	0	2	2	1	1	1	1	2	4	2	4	0	3	2	2	0	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14307467C>T	ENST00000571589.1	+	6	514	c.342C>T	c.(340-342)caC>caT	p.H114H	MKL2_ENST00000574045.1_Silent_p.H114H|MKL2_ENST00000573051.1_Silent_p.H63H|MKL2_ENST00000572567.1_Silent_p.H103H|MKL2_ENST00000318282.5_Silent_p.H114H|MKL2_ENST00000341243.5_Silent_p.H103H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	103					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCAGGATGCACATTTTAGAAG	0.303													T	14307467	C	T	14307467	2	4	364	1	0	0	0	0	0	0	0	1	9677	477	17	2		2	MKL2	16	14307467	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	277913	14307467	76047286	11447	34949											
MKL2	57496	broad.mit.edu	37	chr16	14341010	14341010	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagtcagatcagaagcaCggcagccttggctcctccat	10	8	10	13	1	3	2	3	0	0	2	5	2	5	2	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14341010C>T	ENST00000571589.1	+	12	2065	c.1893C>T	c.(1891-1893)caC>caT	p.H631H	MKL2_ENST00000574045.1_Silent_p.H631H|MKL2_ENST00000318282.5_Silent_p.H631H|MKL2_ENST00000341243.5_Silent_p.H620H	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	620					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCAGAAGCACGGCAGCCTTG	0.602													T	14341010	C	T	14341010	2	4	364	1	0	0	0	0	0	0	0	1	9677	535	19	1		1	MKL2	16	14341010	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33543	14341010	76013743	11448	34950											
MKL2	57496	broad.mit.edu	37	chr16	14342792	14342792	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcctagacttcaccaCaagcaggaatgcagactcag	13	7	7	14	0	3	2	3	0	0	2	4	3	4	3	3	1	2	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14342792C>T	ENST00000571589.1	+	13	2429	c.2257C>T	c.(2257-2259)Caa>Taa	p.Q753*	MKL2_ENST00000574045.1_Nonsense_Mutation_p.Q703*|MKL2_ENST00000318282.5_Nonsense_Mutation_p.Q703*|MKL2_ENST00000341243.5_Nonsense_Mutation_p.Q742*	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	742	Gln-rich.				cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GACTTCACCACAAGCAGGAAT	0.448													T	14342792	C	T	14342792	4	4	364	1	0	0	0	0	0	1	0	0	9677	479	17	2	2149	2	MKL2	16	14342792	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1782	14342792	76011961	11449	34951											
MKL2	57496	broad.mit.edu	37	chr16	14354843	14354843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagccagcatcaccacaatgCcagtgaatacagtggtgtcc	12	7	9	13	0	1	1	1	1	0	0	2	1	2	1	4	1	4	1	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14354843C>T	ENST00000571589.1	+	17	3014	c.2842C>T	c.(2842-2844)Cca>Tca	p.P948S	MKL2_ENST00000574045.1_Missense_Mutation_p.P898S|MKL2_ENST00000318282.5_Missense_Mutation_p.P898S|MKL2_ENST00000341243.5_Missense_Mutation_p.P937S	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	937					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CACCACAATGCCAGTGAATAC	0.458													T	14354843	C	T	14354843	3	4	364	1	0	0	0	0	1	0	0	0	9677	739	26	2	2750	2	MKL2	16	14354843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12051	14354843	75999910	11450	34952											
BFAR	51283	broad.mit.edu	37	chr16	14743744	14743744	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggccaaatggacggcGgaagaagttgtcctctggct	8	9	15	9	2	1	1	0	0	1	1	2	3	2	3	2	5	0	3	2	5	3	1	rs142851831		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14743744G>A	ENST00000261658.2	+	4	829	c.552G>A	c.(550-552)gcG>gcA	p.A184A	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Silent_p.A56A	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	184	SAM.				anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						AATGGACGGCGGAAGAAGTTG	0.537													A	14743744	G	A	14743744	2	1	364	1	0	0	0	0	0	0	0	1	1420	1103	39	1		1	BFAR	16	14743744	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	388901	14743744	75611009	11451	34953											
BFAR	51283	broad.mit.edu	37	chr16	14761613	14761613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttgttttactgggccctgTactttaacccaattattaac	9	17	6	9	0	0	0	0	0	0	0	0	0	0	0	2	1	4	3	2	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14761613T>C	ENST00000261658.2	+	8	1559	c.1282T>C	c.(1282-1284)Tac>Cac	p.Y428H	BFAR_ENST00000563082.1_3'UTR|BFAR_ENST00000563971.1_Missense_Mutation_p.Y303H|BFAR_ENST00000426842.2_Missense_Mutation_p.Y300H	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	428					anti-apoptosis|apoptosis	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	structural molecule activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTGGGCCCTGTACTTTAACCC	0.493													C	14761613	T	C	14761613	3	2	364	1	0	0	0	0	1	0	0	0	1420	1638	57	3	1308	3	BFAR	16	14761613	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17869	14761613	75593140	11452	34954											
NOMO1	23420	broad.mit.edu	37	chr16	14962439	14962439	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatgggcgtgagaatgTggggatttataacctctcca	11	11	13	6	1	1	1	0	1	1	1	2	4	1	3	2	4	1	0	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14962439T>C	ENST00000287667.7	+	16	2012	c.1841T>C	c.(1840-1842)gTg>gCg	p.V614A		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	614						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						CGTGAGAATGTGGGGATTTAT	0.403													C	14962439	T	C	14962439	3	2	364	1	0	0	0	0	1	0	0	0	10607	1696	59	3	1903	3	NOMO1	16	14962439	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	200826	14962439	75392314	11453	34955											
NOMO1	23420	broad.mit.edu	37	chr16	14969012	14969012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcaggagagggagaaaaacgGcaatgaggaaggcgaagaaa	19	1	17	4	2	0	4	0	1	0	3	0	8	0	5	0	5	1	2	0	5	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:14969012G>A	ENST00000287667.7	+	19	2345	c.2174G>A	c.(2173-2175)gGc>gAc	p.G725D		NM_014287.3	NP_055102.3	Q15155	NOMO1_HUMAN	NODAL modulator 1	725						integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(6)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|skin(2)	30						GAGAAAAACGGCAATGAGGAA	0.582													A	14969012	G	A	14969012	3	1	364	1	0	0	0	0	1	0	0	0	10607	1203	42	2	2248	2	NOMO1	16	14969012	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6573	14969012	75385741	11454	34956											
PDXDC1	23042	broad.mit.edu	37	chr16	15100279	15100279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggtgtgcttatttccacGaagaggaaagagaaggactt	13	10	13	5	1	0	2	0	0	0	2	1	6	1	4	1	3	1	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15100279G>A	ENST00000396410.4	+	6	515	c.418G>A	c.(418-420)Gaa>Aaa	p.E140K	PDXDC1_ENST00000325823.7_Missense_Mutation_p.E125K|PDXDC1_ENST00000563679.1_Missense_Mutation_p.E158K|PDXDC1_ENST00000450288.2_Missense_Mutation_p.E112K|PDXDC1_ENST00000455313.2_Missense_Mutation_p.E140K|PDXDC1_ENST00000447912.2_Missense_Mutation_p.E49K|PDXDC1_ENST00000569715.1_Missense_Mutation_p.E113K|PDXDC1_ENST00000535621.2_Missense_Mutation_p.E140K	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	140					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	TTATTTCCACGAAGAGGAAAG	0.343													A	15100279	G	A	15100279	3	1	364	1	0	0	0	0	1	0	0	0	11772	1059	37	1	440	1	PDXDC1	16	15100279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131267	15100279	75254474	11455	34957											
PDXDC1	23042	broad.mit.edu	37	chr16	15103568	15103568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagaaactgattaaaGatgatatagagcgaggaaga	17	8	12	4	1	0	6	0	2	0	4	1	9	1	7	1	2	2	0	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15103568G>T	ENST00000396410.4	+	8	776	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	PDXDC1_ENST00000325823.7_Missense_Mutation_p.D212Y|PDXDC1_ENST00000563679.1_Missense_Mutation_p.D245Y|PDXDC1_ENST00000450288.2_Missense_Mutation_p.D199Y|PDXDC1_ENST00000455313.2_Missense_Mutation_p.D204Y|PDXDC1_ENST00000447912.2_Missense_Mutation_p.D136Y|PDXDC1_ENST00000569715.1_Missense_Mutation_p.D200Y|PDXDC1_ENST00000535621.2_Missense_Mutation_p.D227Y	NM_015027.2	NP_055842.2	Q6P996	PDXD1_HUMAN	pyridoxal-dependent decarboxylase domain containing 1	227					carboxylic acid metabolic process		carboxy-lyase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(2)|liver(1)|lung(10)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Pyridoxal Phosphate(DB00114)	ACTGATTAAAGATGATATAGA	0.388													T	15103568	G	T	15103568	3	4	364	1	0	0	0	0	1	0	0	0	11772	942	33	4	709	4	PDXDC1	16	15103568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3289	15103568	75251185	11456	34958											
C16orf45	89927	broad.mit.edu	37	chr16	15680614	15680614	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcccccacctagcaaGcccacggtggccaagacggg	10	2	13	16	2	0	2	0	0	0	2	0	2	0	2	5	3	3	2	5	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15680614G>A	ENST00000300006.4	+	6	902	c.543G>A	c.(541-543)aaG>aaA	p.K181K	C16orf45_ENST00000566490.1_3'UTR|C16orf45_ENST00000452191.2_Silent_p.K164K|C16orf45_ENST00000565913.1_3'UTR	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	181										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						CACCTAGCAAGCCCACGGTGG	0.632													A	15680614	G	A	15680614	2	1	364	1	0	0	0	0	0	0	0	1	1828	962	34	2		2	C16orf45	16	15680614	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	577046	15680614	74674139	11457	34959											
KIAA0430	9665	broad.mit.edu	37	chr16	15706483	15706483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagtctgacactcggcaCtgctttgcaaaatgatggtg	9	11	11	10	2	1	2	0	2	1	0	2	2	1	2	1	2	2	4	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15706483C>A	ENST00000396368.3	-	17	3611	c.3405G>T	c.(3403-3405)caG>caT	p.Q1135H	KIAA0430_ENST00000602337.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000344181.3_Missense_Mutation_p.Q737H|KIAA0430_ENST00000540441.2_Missense_Mutation_p.Q970H|KIAA0430_ENST00000548025.1_Missense_Mutation_p.Q1132H|KIAA0430_ENST00000551742.1_Missense_Mutation_p.Q1135H	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	1134						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						ACACTCGGCACTGCTTTGCAA	0.443													A	15706483	C	A	15706483	3	1	364	1	0	0	0	0	1	0	0	0	8235	564	20	4	1867	4	KIAA0430	16	15706483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25869	15706483	74648270	11458	34960											
MYH11	4629	broad.mit.edu	37	chr16	15814801	15814801	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgttgacttccagccgcagTttggcgtcctccgtggcttg	4	13	12	12	3	0	1	0	1	0	0	3	1	3	1	4	2	1	4	4	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814801T>G	ENST00000452625.2	-	34	4794	c.4707A>C	c.(4705-4707)aaA>aaC	p.K1569N	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Missense_Mutation_p.K1562N|MYH11_ENST00000576790.2_Missense_Mutation_p.K1562N|MYH11_ENST00000396324.3_Missense_Mutation_p.K1569N|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1562					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CCAGCCGCAGTTTGGCGTCCT	0.602			T	CBFB	AML								G	15814801	T	G	15814801	3	3	364	1	0	0	0	0	1	0	0	0	10107	1722	60	5	1303	5	MYH11	16	15814801	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108318	15814801	74539952	11459	34961											
MYH11	4629	broad.mit.edu	37	chr16	15814828	15814828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgtggcttgcagctcGtcctccagctcttccagctg	3	12	9	17	2	1	0	0	0	1	0	7	0	6	0	5	1	4	5	5	1	0	2	rs141031021	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:15814828G>A	ENST00000452625.2	-	34	4767	c.4680C>T	c.(4678-4680)gaC>gaT	p.D1560D	NDE1_ENST00000396355.1_Intron|MYH11_ENST00000300036.5_Silent_p.D1553D|MYH11_ENST00000576790.2_Silent_p.D1553D|MYH11_ENST00000396324.3_Silent_p.D1560D|NDE1_ENST00000396354.1_Intron|NDE1_ENST00000342673.5_Intron	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1553					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTTGCAGCTCGTCCTCCAGCT	0.632			T	CBFB	AML								A	15814828	G	A	15814828	2	1	364	1	0	0	0	0	0	0	0	1	10107	1136	40	1		1	MYH11	16	15814828	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	15814828	74539925	11460	34962											
ABCC1	4363	broad.mit.edu	37	chr16	16101790	16101790	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttccccttctacttcctcTatctctcccgacatgaccga	6	14	4	17	2	3	1	0	1	3	0	7	3	6	1	5	0	1	1	5	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16101790T>C	ENST00000399408.2	+	2	341	c.166T>C	c.(166-168)Tat>Cat	p.Y56H	ABCC1_ENST00000351154.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000349029.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000345148.5_Missense_Mutation_p.Y56H|ABCC1_ENST00000399410.3_Missense_Mutation_p.Y56H|ABCC1_ENST00000346370.5_Missense_Mutation_p.Y56H			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	56					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	CTACTTCCTCTATCTCTCCCG	0.522													C	16101790	T	C	16101790	3	2	364	1	0	0	0	0	1	0	0	0	49	1522	53	3	172	3	ABCC1	16	16101790	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	286962	16101790	74252963	11461	34963											
ABCC1	4363	broad.mit.edu	37	chr16	16146596	16146596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaatctgggcccttccGtcctggctggagtggcggtg	4	11	15	11	2	1	1	0	0	1	1	3	2	3	2	3	5	0	1	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16146596G>A	ENST00000399408.2	+	11	1571	c.1396G>A	c.(1396-1398)Gtc>Atc	p.V466I	ABCC1_ENST00000351154.5_Missense_Mutation_p.V466I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V466I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V466I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V466I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V466I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	466	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGCCCTTCCGTCCTGGCTGG	0.557													A	16146596	G	A	16146596	3	1	364	1	0	0	0	0	1	0	0	0	49	1145	40	1	1438	1	ABCC1	16	16146596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44806	16146596	74208157	11462	34964											
ABCC1	4363	broad.mit.edu	37	chr16	16215931	16215931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccttgctgggggtcagcGtcattcgagccttcgaggag	7	9	15	10	3	2	1	2	0	0	1	4	4	2	2	2	3	3	1	2	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16215931G>A	ENST00000399408.2	+	25	3695	c.3520G>A	c.(3520-3522)Gtc>Atc	p.V1174I	ABCC1_ENST00000351154.5_Missense_Mutation_p.V1105I|ABCC1_ENST00000349029.5_Missense_Mutation_p.V1049I|ABCC1_ENST00000345148.5_Missense_Mutation_p.V1164I|ABCC1_ENST00000399410.3_Missense_Mutation_p.V1164I|ABCC1_ENST00000346370.5_Missense_Mutation_p.V1108I			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1164	ABC transmembrane type-1 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGGTCAGCGTCATTCGAGC	0.602													A	16215931	G	A	16215931	3	1	364	1	0	0	0	0	1	0	0	0	49	1145	40	1	3584	1	ABCC1	16	16215931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69335	16215931	74138822	11463	34965											
ABCC1	4363	broad.mit.edu	37	chr16	16225792	16225792	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgatcaatgggggagaaaaGgtgggtacacatcgccccat	13	6	13	9	2	1	1	1	0	0	1	2	3	1	1	2	4	1	1	2	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16225792G>T	ENST00000399408.2	+	28	4171	c.3996G>T	c.(3994-3996)aaG>aaT	p.K1332N	ABCC1_ENST00000351154.5_Splice_Site_p.K1263N|ABCC1_ENST00000349029.5_Splice_Site_p.K1207N|ABCC1_ENST00000345148.5_Splice_Site_p.K1322N|ABCC1_ENST00000399410.3_Splice_Site_p.K1322N|ABCC1_ENST00000346370.5_Splice_Site_p.K1266N			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	1322	ABC transporter 2.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGGGAGAAAAGGTGGGTACAC	0.597													T	16225792	G	T	16225792	5	4	364	1	0	0	0	0	0	0	1	0	49	1014	35	4	4072	4	ABCC1	16	16225792	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9861	16225792	74128961	11464	34966											
ABCC6	368	broad.mit.edu	37	chr16	16315535	16315535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagagtggggacatccGgaggtagccccggccatggt	8	8	16	9	2	0	2	0	1	0	1	1	4	1	4	4	6	1	1	4	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16315535G>A	ENST00000205557.7	-	2	219	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ABCC6_ENST00000575728.1_Missense_Mutation_p.R64W|ABCC6_ENST00000574094.1_5'UTR	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	64			R -> W.		response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GGGGACATCCGGAGGTAGCCC	0.612													A	16315535	G	A	16315535	3	1	364	1	0	0	0	0	1	0	0	0	57	1115	39	1	4522	1	ABCC6	16	16315535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89743	16315535	74039218	11465	34967											
NOMO3	408050	broad.mit.edu	37	chr16	16359019	16359019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctgagatgttccctgTctcacgccatcactctggta	8	12	8	13	1	3	1	2	1	2	1	5	2	4	1	2	1	1	3	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:16359019T>C	ENST00000399336.4	+	15	1961	c.1789T>C	c.(1789-1791)Tct>Cct	p.S597P	NOMO3_ENST00000538468.1_Missense_Mutation_p.S430P|NOMO3_ENST00000263012.6_Missense_Mutation_p.S597P	NM_001004067.3	NP_001004067.1	P69849	NOMO3_HUMAN	NODAL modulator 3	597						integral to membrane	carbohydrate binding|carboxypeptidase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	8				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		ATGTTCCCTGTCTCACGCCAT	0.498													C	16359019	T	C	16359019	3	2	364	1	0	0	0	0	1	0	0	0	10609	1667	58	3	1847	3	NOMO3	16	16359019	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43484	16359019	73995734	11466	34968											
TMC7	79905	broad.mit.edu	37	chr16	19049260	19049260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctcagaagaaacaatacGcatttactctttgagactgt	14	11	7	9	1	2	3	1	1	1	3	2	5	2	3	1	0	3	1	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19049260G>A	ENST00000421369.3	+	8	1298	c.740G>A	c.(739-741)cGc>cAc	p.R247H	TMC7_ENST00000561963.1_3'UTR|TMC7_ENST00000304381.5_Missense_Mutation_p.R357H|TMC7_ENST00000569532.1_Missense_Mutation_p.R357H	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	357						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GAAACAATACGCATTTACTCT	0.413													A	19049260	G	A	19049260	3	1	364	1	0	0	0	0	1	0	0	0	16090	1087	38	1	1100	1	TMC7	16	19049260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2690241	19049260	71305493	11467	34969											
TMC7	79905	broad.mit.edu	37	chr16	19056286	19056286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcctgtgatgatgacaCatgtgacctttgcggctaca	10	11	9	11	1	0	4	0	4	0	0	1	4	1	4	2	1	2	1	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19056286C>T	ENST00000421369.3	+	10	1646	c.1088C>T	c.(1087-1089)aCa>aTa	p.T363I	TMC7_ENST00000304381.5_Missense_Mutation_p.T473I|TMC7_ENST00000569532.1_Missense_Mutation_p.T473I	NM_001160364.1	NP_001153836.1	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	473						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GATGATGACACATGTGACCTT	0.562													T	19056286	C	T	19056286	3	4	364	1	0	0	0	0	1	0	0	0	16090	478	17	2	1456	2	TMC7	16	19056286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7026	19056286	71298467	11468	34970											
SYT17	51760	broad.mit.edu	37	chr16	19194972	19194972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacggacctataaccccgacGactatttcaggaagttcgaa	13	8	9	11	4	1	0	1	0	0	0	2	6	1	2	3	2	1	1	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19194972G>A	ENST00000562034.1	+	3	4069	c.271G>A	c.(271-273)Gac>Aac	p.D91N	SYT17_ENST00000568115.1_Missense_Mutation_p.D91N|SYT17_ENST00000355377.2_Missense_Mutation_p.D152N|SYT17_ENST00000562711.2_Missense_Mutation_p.D148N			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	152						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						TAACCCCGACGACTATTTCAG	0.537													A	19194972	G	A	19194972	3	1	364	1	0	0	0	0	1	0	0	0	15570	1058	37	1	472	1	SYT17	16	19194972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138686	19194972	71159781	11469	34971											
SYT17	51760	broad.mit.edu	37	chr16	19195193	19195193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcgcgccaggacatggcGcactccaacccctacgtcaa	9	5	10	17	4	1	0	1	0	0	0	3	1	2	1	4	3	2	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19195193G>A	ENST00000562034.1	+	3	4290	c.492G>A	c.(490-492)gcG>gcA	p.A164A	SYT17_ENST00000568115.1_Silent_p.A164A|SYT17_ENST00000355377.2_Silent_p.A225A|SYT17_ENST00000562711.2_Silent_p.A221A			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	225						membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						AGGACATGGCGCACTCCAACC	0.612													A	19195193	G	A	19195193	2	1	364	1	0	0	0	0	0	0	0	1	15570	1074	38	1		1	SYT17	16	19195193	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221	19195193	71159560	11470	34972											
TMC5	79838	broad.mit.edu	37	chr16	19451377	19451377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacatgtctgcctactacaGgaataactggtctgaggaag	13	9	10	9	0	2	1	0	1	2	0	2	3	2	3	1	3	5	0	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19451377G>T	ENST00000396229.2	+	3	766	c.17G>T	c.(16-18)aGg>aTg	p.R6M	TMC5_ENST00000541464.1_Missense_Mutation_p.R6M|TMC5_ENST00000381414.4_Missense_Mutation_p.R6M|TMC5_ENST00000542583.2_Missense_Mutation_p.R6M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	6						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCCTACTACAGGAATAACTGG	0.443													T	19451377	G	T	19451377	3	4	364	1	0	0	0	0	1	0	0	0	16088	1000	35	4	19	4	TMC5	16	19451377	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	256184	19451377	70903376	11471	34973											
TMC5	79838	broad.mit.edu	37	chr16	19492748	19492748	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagtttgacattgccaGgaacgttctagaactgatct	11	12	10	8	1	3	3	1	2	2	1	3	5	3	5	1	2	3	2	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19492748G>T	ENST00000396229.2	+	15	3073	c.2324G>T	c.(2323-2325)aGg>aTg	p.R775M	TMC5_ENST00000541464.1_Missense_Mutation_p.R723M|TMC5_ENST00000381414.4_Missense_Mutation_p.R775M|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.R775M|TMC5_ENST00000564959.1_Missense_Mutation_p.R458M|TMC5_ENST00000219821.5_Missense_Mutation_p.R529M|TMC5_ENST00000561503.1_Missense_Mutation_p.R416M	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	775						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GACATTGCCAGGAACGTTCTA	0.448													T	19492748	G	T	19492748	3	4	364	1	0	0	0	0	1	0	0	0	16088	1000	35	4	2688	4	TMC5	16	19492748	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41371	19492748	70862005	11472	34974											
TMC5	79838	broad.mit.edu	37	chr16	19501749	19501749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgactgtggcccttttcGaggtctgcctctcttcattc	4	15	9	13	1	3	1	1	1	2	0	6	2	3	1	2	2	2	1	2	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19501749G>A	ENST00000396229.2	+	18	3355	c.2606G>A	c.(2605-2607)cGa>cAa	p.R869Q	TMC5_ENST00000541464.1_Missense_Mutation_p.R817Q|TMC5_ENST00000381414.4_Intron|TMC5_ENST00000542583.2_Missense_Mutation_p.R869Q|TMC5_ENST00000564959.1_Missense_Mutation_p.R552Q|TMC5_ENST00000219821.5_Missense_Mutation_p.R623Q|TMC5_ENST00000561503.1_Missense_Mutation_p.R510Q	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	869						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GGCCCTTTTCGAGGTCTGCCT	0.478													A	19501749	G	A	19501749	3	1	364	1	0	0	0	0	1	0	0	0	16088	1058	37	1	2982	1	TMC5	16	19501749	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9001	19501749	70853004	11473	34975											
C16orf62	57020	broad.mit.edu	37	chr16	19639072	19639072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagttcatcgccacaaGgtctatggatttcattggca	9	12	11	9	1	3	1	2	1	1	0	4	2	3	2	1	4	0	3	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:19639072G>T	ENST00000438132.3	+	16	1643	c.1595G>T	c.(1594-1596)aGg>aTg	p.R532M	C16orf62_ENST00000417362.2_Missense_Mutation_p.R376M|C16orf62_ENST00000542263.1_Missense_Mutation_p.R465M|C16orf62_ENST00000251143.5_Missense_Mutation_p.R443M|C16orf62_ENST00000448695.1_Missense_Mutation_p.R293M|C16orf62_ENST00000543152.1_Missense_Mutation_p.R192M	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	443						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						ATCGCCACAAGGTCTATGGAT	0.483													T	19639072	G	T	19639072	3	4	364	1	0	0	0	0	1	0	0	0	1839	1000	35	4	1390	4	C16orf62	16	19639072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137323	19639072	70715681	11474	34976											
GPR139	124274	broad.mit.edu	37	chr16	20043451	20043451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcggtggtcttccccGtggagtagccacggagacga	8	7	16	10	4	1	2	0	0	1	2	2	5	2	3	3	5	1	1	3	5	1	2	rs144787739	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043451G>A	ENST00000570682.1	-	2	968	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	223						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGTCTTCCCCGTGGAGTAGCC	0.527													A	20043451	G	A	20043451	3	1	364	1	0	0	0	0	1	0	0	0	6702	1145	40	1	397	1	GPR139	16	20043451	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	404379	20043451	70311302	11475	34977											
GPR139	124274	broad.mit.edu	37	chr16	20043467	20043467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgtggagtagccacggaGacgaaaattgctcttcctcc	9	8	10	14	3	1	1	0	0	1	1	3	4	3	2	5	2	2	2	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20043467G>T	ENST00000570682.1	-	2	952	c.652C>A	c.(652-654)Ctc>Atc	p.L218I		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	218						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TAGCCACGGAGACGAAAATTG	0.512													T	20043467	G	T	20043467	3	4	364	1	0	0	0	0	1	0	0	0	6702	942	33	4	413	4	GPR139	16	20043467	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16	20043467	70311286	11476	34978											
PDILT	204474	broad.mit.edu	37	chr16	20410477	20410477	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggtcaggccagcgggcGttagcactaggagactgcgt	7	8	16	10	3	2	1	1	0	1	1	2	2	2	1	1	4	3	2	1	4	2	2	rs143235162		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20410477G>A	ENST00000302451.4	-	2	394	c.146C>T	c.(145-147)aCg>aTg	p.T49M		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	49					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GCCAGCGGGCGTTAGCACTAG	0.572													A	20410477	G	A	20410477	3	1	364	1	0	0	0	0	1	0	0	0	11750	1145	40	1	1652	1	PDILT	16	20410477	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	367010	20410477	69944276	11477	34979											
ACSM1	116285	broad.mit.edu	37	chr16	20681161	20681161	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttacctgtatgatgacCttggtgtcaaactgtggcag	8	14	10	9	0	2	2	1	2	1	0	2	2	2	2	2	2	2	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20681161C>A	ENST00000219151.4	-	0	967				ACSM1_ENST00000307493.4_Missense_Mutation_p.K300N|ACSM1_ENST00000520010.1_Missense_Mutation_p.K300N			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1						benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTATGATGACCTTGGTGTCAA	0.433													A	20681161	C	A	20681161	1	1	364	1	0	0	0	0	0	0	0	0	182	680	24	4		4	ACSM1	16	20681161	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270684	20681161	69673592	11478	34980											
ACSM1	116285	broad.mit.edu	37	chr16	20702396	20702396	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttcatagtcattccatcTtggggctccaaattctgata	10	15	6	10	0	4	1	2	1	2	0	6	1	6	1	2	2	1	1	2	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20702396T>C	ENST00000307493.4	-	1	182	c.115A>G	c.(115-117)Aga>Gga	p.R39G	ACSM1_ENST00000219151.4_5'UTR|ACSM1_ENST00000520010.1_Missense_Mutation_p.R39G	NM_052956.2	NP_443188.2	Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	39					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TCATTCCATCTTGGGGCTCCA	0.512													C	20702396	T	C	20702396	3	2	364	1	0	0	0	0	1	0	0	0	182	1617	56	3	1670	3	ACSM1	16	20702396	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21235	20702396	69652357	11479	34981											
ACSM3	6296	broad.mit.edu	37	chr16	20781367	20781367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagactgatgctagctcGtgtcaccaggaagatgctac	13	8	10	10	1	1	3	1	1	0	2	2	4	1	4	1	1	5	3	1	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20781367G>A	ENST00000289416.5	+	2	486	c.11G>A	c.(10-12)cGt>cAt	p.R4H	ACSM3_ENST00000440284.2_Missense_Mutation_p.R4H	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	4					regulation of blood pressure	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						ATGCTAGCTCGTGTCACCAGG	0.433													A	20781367	G	A	20781367	3	1	364	1	0	0	0	0	1	0	0	0	185	1145	40	1	13	1	ACSM3	16	20781367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78971	20781367	69573386	11480	34982											
LOC81691	81691	broad.mit.edu	37	chr16	20838466	20838466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaaagcactgcttcctcCtgatgctgtgttagtgggcc	7	13	11	10	0	0	1	0	1	0	0	2	1	2	1	3	1	3	5	3	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20838466C>A	ENST00000261377.6	+	9	1117	c.908C>A	c.(907-909)cCt>cAt	p.P303H	AC004381.6_ENST00000348433.6_Missense_Mutation_p.P303H|ERI2_ENST00000564349.1_Intron|AC004381.6_ENST00000564274.1_Missense_Mutation_p.P303H	NM_001199053.1|NM_030941.2	NP_001185982.1|NP_112203.2																					CTGCTTCCTCCTGATGCTGTG	0.408													A	20838466	C	A	20838466	3	1	364	1	0	0	0	0	1	0	0	0	8960	681	24	4	938	4	LOC81691	16	20838466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57099	20838466	69516287	11481	34983											
DNAH3	55567	broad.mit.edu	37	chr16	20975279	20975279	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgatgttggccaggtcCgagatacaaaagaagatggt	12	8	14	7	2	0	3	0	0	0	3	2	5	1	3	2	4	1	2	2	4	4	2	rs148736888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975279C>T	ENST00000261383.3	-	53	9926	c.9927G>A	c.(9925-9927)tcG>tcA	p.S3309S	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3309					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGGCCAGGTCCGAGATACAAA	0.498													T	20975279	C	T	20975279	2	4	364	1	0	0	0	0	0	0	0	1	4642	639	23	1		1	DNAH3	16	20975279	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136813	20975279	69379474	11482	34984											
DNAH3	55567	broad.mit.edu	37	chr16	20975574	20975574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctctggcttctccttcGcagccacgatgccaaggagt	7	9	10	15	2	2	0	0	0	2	0	4	2	2	1	4	2	3	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20975574G>A	ENST00000261383.3	-	53	9631	c.9632C>T	c.(9631-9633)gCg>gTg	p.A3211V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3211	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CTTCTCCTTCGCAGCCACGAT	0.473													A	20975574	G	A	20975574	3	1	364	1	0	0	0	0	1	0	0	0	4642	1087	38	1	2757	1	DNAH3	16	20975574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	295	20975574	69379179	11483	34985											
DNAH3	55567	broad.mit.edu	37	chr16	20996860	20996860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgaccagggacatgggggCcttgctgatgttgttgaatt	8	12	14	7	0	0	3	0	3	0	0	0	4	0	4	2	3	1	3	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:20996860C>T	ENST00000261383.3	-	48	7203	c.7204G>A	c.(7204-7206)Gcc>Acc	p.A2402T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2402	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GACATGGGGGCCTTGCTGATG	0.507													T	20996860	C	T	20996860	3	4	364	1	0	0	0	0	1	0	0	0	4642	739	26	2	5205	2	DNAH3	16	20996860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21286	20996860	69357893	11484	34986											
DNAH3	55567	broad.mit.edu	37	chr16	21045299	21045299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggatgtgagctttacctgCgtgtaaatcgccgagagctg	9	10	14	8	3	0	2	0	1	0	1	1	4	0	3	2	1	4	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21045299C>T	ENST00000261383.3	-	36	5193	c.5194G>A	c.(5194-5196)Gca>Aca	p.A1732T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1732T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1732	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GCTTTACCTGCGTGTAAATCG	0.537													T	21045299	C	T	21045299	3	4	364	1	0	0	0	0	1	0	0	0	4642	768	27	1	7263	1	DNAH3	16	21045299	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48439	21045299	69309454	11485	34987											
DNAH3	55567	broad.mit.edu	37	chr16	21061301	21061301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccagctggaccctctggaGcacccccaaggttcagcttc	7	8	9	17	0	2	0	1	0	1	0	4	2	3	2	4	3	3	4	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21061301G>T	ENST00000261383.3	-	30	4276	c.4277C>A	c.(4276-4278)gCt>gAt	p.A1426D	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1426D	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1426	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCCTCTGGAGCACCCCCAAG	0.507													T	21061301	G	T	21061301	3	4	364	1	0	0	0	0	1	0	0	0	4642	971	34	4	8204	4	DNAH3	16	21061301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16002	21061301	69293452	11486	34988											
DNAH3	55567	broad.mit.edu	37	chr16	21080884	21080884	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccaggcatccaaattgTcttgtatgcgaattagcttt	11	14	7	9	1	2	0	1	0	1	0	3	1	3	0	2	1	3	3	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21080884T>C	ENST00000261383.3	-	23	3232	c.3233A>G	c.(3232-3234)gAc>gGc	p.D1078G	DNAH3_ENST00000415178.1_Missense_Mutation_p.D1078G	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1078	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCCAAATTGTCTTGTATGCG	0.473													C	21080884	T	C	21080884	3	2	364	1	0	0	0	0	1	0	0	0	4642	1667	58	3	9276	3	DNAH3	16	21080884	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19583	21080884	69273869	11487	34989											
ZP2	7783	broad.mit.edu	37	chr16	21210953	21210953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggggagtcaggggagagtCgattacagattaaggcactg	11	8	17	5	1	1	2	1	0	0	2	2	5	1	3	0	5	1	1	0	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21210953C>T	ENST00000574002.1	-	17	2347	c.1865G>A	c.(1864-1866)cGa>cAa	p.R622Q	ZP2_ENST00000574091.1_Missense_Mutation_p.R613Q|ZP2_ENST00000219593.4_Missense_Mutation_p.R622Q|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	622	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		AGGGGAGAGTCGATTACAGAT	0.478													T	21210953	C	T	21210953	3	4	364	1	0	0	0	0	1	0	0	0	18315	884	31	1	388	1	ZP2	16	21210953	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130069	21210953	69143800	11488	34990											
IGSF6	10261	broad.mit.edu	37	chr16	21655643	21655643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgaaggccacgcacacacCggtcacatagacagagagca	15	4	10	12	2	1	3	1	1	0	2	1	4	1	3	2	2	1	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21655643C>T	ENST00000268389.4	-	3	563	c.502G>A	c.(502-504)Ggt>Agt	p.G168S	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	168					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		ACGCACACACCGGTCACATAG	0.408													T	21655643	C	T	21655643	3	4	364	1	0	0	0	0	1	0	0	0	7661	652	23	1	239	1	IGSF6	16	21655643	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	444690	21655643	68699110	11489	34991											
OTOA	146183	broad.mit.edu	37	chr16	21698948	21698948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctccctcgggacctgcGcgaggatgcctttaagaacc	7	7	13	14	4	0	1	0	0	0	1	2	4	1	3	4	3	3	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21698948G>A	ENST00000388958.3	+	7	615	c.614G>A	c.(613-615)cGc>cAc	p.R205H	OTOA_ENST00000388956.4_Missense_Mutation_p.R126H|OTOA_ENST00000286149.4_Missense_Mutation_p.R205H	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	205					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CGGGACCTGCGCGAGGATGCC	0.542													A	21698948	G	A	21698948	3	1	364	1	0	0	0	0	1	0	0	0	11378	1087	38	1	674	1	OTOA	16	21698948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43305	21698948	68655805	11490	34992											
OTOA	146183	broad.mit.edu	37	chr16	21726405	21726405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggacatctcgcaggtcCtgagaagtgccgtctcccag	9	7	12	13	2	2	1	0	1	2	1	5	3	3	2	3	2	1	2	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21726405C>A	ENST00000388958.3	+	13	1421	c.1420C>A	c.(1420-1422)Ctg>Atg	p.L474M	OTOA_ENST00000388956.4_Missense_Mutation_p.L395M|OTOA_ENST00000286149.4_Missense_Mutation_p.L488M|OTOA_ENST00000388957.3_Missense_Mutation_p.L150M	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	488					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CTCGCAGGTCCTGAGAAGTGC	0.567													A	21726405	C	A	21726405	3	1	364	1	0	0	0	0	1	0	0	0	11378	680	24	4	1516	4	OTOA	16	21726405	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27457	21726405	68628348	11491	34993											
OTOA	146183	broad.mit.edu	37	chr16	21742191	21742191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacagccgagaccacgaaGgacttgggaccctttctagt	10	8	12	11	2	1	1	0	0	1	1	1	6	1	4	3	3	1	0	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:21742191G>T	ENST00000388958.3	+	20	2242	c.2241G>T	c.(2239-2241)aaG>aaT	p.K747N	OTOA_ENST00000388956.4_Missense_Mutation_p.K668N|OTOA_ENST00000286149.4_Missense_Mutation_p.K761N|OTOA_ENST00000388957.3_Missense_Mutation_p.K423N	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	761					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGACCACGAAGGACTTGGGAC	0.443													T	21742191	G	T	21742191	3	4	364	1	0	0	0	0	1	0	0	0	11378	991	35	4	2365	4	OTOA	16	21742191	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15786	21742191	68612562	11492	34994											
PDZD9	255762	broad.mit.edu	37	chr16	22000097	22000097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacattggcatggccaacaCtaatcagaacatcacctgaa	16	7	6	12	0	2	2	2	1	0	1	2	2	2	2	2	2	2	1	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22000097C>T	ENST00000286143.6	-	4	362	c.41G>A	c.(40-42)aGt>aAt	p.S14N	PDZD9_ENST00000424898.2_Missense_Mutation_p.S76N|PDZD9_ENST00000537222.2_Missense_Mutation_p.S16N			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	76										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						ATGGCCAACACTAATCAGAAC	0.353													T	22000097	C	T	22000097	3	4	364	1	0	0	0	0	1	0	0	0	11782	565	20	2	575	2	PDZD9	16	22000097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257906	22000097	68354656	11493	34995											
VWA3A	146177	broad.mit.edu	37	chr16	22134955	22134955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagctcagcagagctatgCggatgtatgagaggcggatt	12	8	14	7	2	1	2	1	1	0	2	1	5	1	4	0	3	5	4	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22134955C>T	ENST00000389398.5	+	16	1555	c.1459C>T	c.(1459-1461)Cgg>Tgg	p.R487W	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	487						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CAGAGCTATGCGGATGTATGA	0.547													T	22134955	C	T	22134955	3	4	364	1	0	0	0	0	1	0	0	0	17342	759	27	1	1521	1	VWA3A	16	22134955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134858	22134955	68219798	11494	34996											
VWA3A	146177	broad.mit.edu	37	chr16	22142596	22142596	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacaatttacaaagtgccTggcggtaggttatgggcaga	13	9	12	7	1	0	1	0	0	0	1	0	1	0	1	1	4	3	3	1	4	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22142596T>G	ENST00000389398.5	+	18	1819	c.1723T>G	c.(1723-1725)Tgg>Ggg	p.W575G	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	575	VWFA 1.					extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		ACAAAGTGCCTGGCGGTAGGT	0.493													G	22142596	T	G	22142596	3	3	364	1	0	0	0	0	1	0	0	0	17342	1580	55	5	1793	5	VWA3A	16	22142596	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7641	22142596	68212157	11495	34997											
VWA3A	146177	broad.mit.edu	37	chr16	22152906	22152906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccaaatgttcctcagctgCggcccagccaacgaaagaag	13	5	10	13	2	1	1	1	0	0	1	2	2	2	1	4	1	5	2	4	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22152906C>T	ENST00000389398.5	+	24	2483	c.2387C>T	c.(2386-2388)gCg>gTg	p.A796V	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	796						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TCCTCAGCTGCGGCCCAGCCA	0.488													T	22152906	C	T	22152906	3	4	364	1	0	0	0	0	1	0	0	0	17342	768	27	1	2481	1	VWA3A	16	22152906	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10310	22152906	68201847	11496	34998											
EEF2K	29904	broad.mit.edu	37	chr16	22262474	22262474	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgcctcttcccacaggaAgaagctctccaacttcttgc	8	12	7	14	0	3	1	0	0	3	1	5	2	4	2	3	1	4	2	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22262474A>C	ENST00000263026.5	+	6	923	c.449A>C	c.(448-450)aAg>aCg	p.K150T		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	150	Alpha-type protein kinase.				insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		TCCCACAGGAAGAAGCTCTCC	0.597													C	22262474	A	C	22262474	3	2	364	1	0	0	0	0	1	0	0	0	4969	72	3	5	467	5	EEF2K	16	22262474	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	109568	22262474	68092279	11497	34999											
EEF2K	29904	broad.mit.edu	37	chr16	22269826	22269826	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctagcaatcagccaaGaccatcttgagaggaacaga	14	7	9	11	0	2	3	1	1	1	3	3	5	3	4	3	1	3	1	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22269826G>T	ENST00000263026.5	+	10	1515	c.1041G>T	c.(1039-1041)aaG>aaT	p.K347N		NM_013302.3	NP_037434	O00418	EF2K_HUMAN	eukaryotic elongation factor-2 kinase	347					insulin receptor signaling pathway|translational elongation	cytosol	ATP binding|calcium ion binding|calmodulin binding|elongation factor-2 kinase activity|translation factor activity, nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(8)|large_intestine(2)|lung(13)|ovary(1)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(48;0.0223)		AATCAGCCAAGACCATCTTGA	0.532													T	22269826	G	T	22269826	3	4	364	1	0	0	0	0	1	0	0	0	4969	933	33	4	1075	4	EEF2K	16	22269826	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7352	22269826	68084927	11498	35000											
POLR3E	55718	broad.mit.edu	37	chr16	22327981	22327981	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggctcaagcggggtggaGaacacggagctcgtcaagtc	9	5	15	12	4	2	1	2	0	0	1	4	3	2	2	1	5	3	2	1	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22327981G>T	ENST00000299853.5	+	10	869	c.702G>T	c.(700-702)gaG>gaT	p.E234D	POLR3E_ENST00000418581.2_Missense_Mutation_p.E198D|POLR3E_ENST00000359210.4_Missense_Mutation_p.E234D|POLR3E_ENST00000564209.1_Missense_Mutation_p.E234D	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	234					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		GCGGGGTGGAGAACACGGAGC	0.637													T	22327981	G	T	22327981	3	4	364	1	0	0	0	0	1	0	0	0	12309	933	33	4	736	4	POLR3E	16	22327981	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58155	22327981	68026772	11499	35001											
POLR3E	55718	broad.mit.edu	37	chr16	22337275	22337275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgaggagcaggaggcGgaggaggagcccatggacac	12	1	20	8	2	0	0	0	0	0	0	0	9	0	7	1	8	2	1	1	8	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:22337275G>A	ENST00000299853.5	+	18	1709	c.1542G>A	c.(1540-1542)gcG>gcA	p.A514A	POLR3E_ENST00000418581.2_Silent_p.A478A|POLR3E_ENST00000359210.4_Silent_p.A514A|POLR3E_ENST00000564209.1_Silent_p.A514A	NM_001258033.1|NM_001258035.1|NM_018119.3	NP_001244962.1|NP_001244964.1|NP_060589.1	Q9NVU0	RPC5_HUMAN	polymerase (RNA) III (DNA directed) polypeptide E (80kD)	514					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA-directed RNA polymerase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.012)		agcaggaggcggaggaggagC	0.716													A	22337275	G	A	22337275	2	1	364	1	0	0	0	0	0	0	0	1	12309	1103	39	1		1	POLR3E	16	22337275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9294	22337275	68017478	11500	35002											
USP31	57478	broad.mit.edu	37	chr16	23080469	23080469	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacataagcgatctgattaTtgttatcaaatggaccagag	14	11	8	8	1	2	2	1	1	1	1	2	4	2	3	2	1	1	1	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23080469T>G	ENST00000219689.7	-	16	2956	c.2957A>C	c.(2956-2958)aAt>aCt	p.N986T	USP31_ENST00000567975.1_Missense_Mutation_p.N279T	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	986	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GATCTGATTATTGTTATCAAA	0.532													G	23080469	T	G	23080469	3	3	364	1	0	0	0	0	1	0	0	0	17164	1493	52	5	1105	5	USP31	16	23080469	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	743194	23080469	67274284	11501	35003											
USP31	57478	broad.mit.edu	37	chr16	23113642	23113642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggagctcccttacctCtttgactgagaattccttca	11	12	6	12	0	2	2	1	2	1	1	4	4	4	3	3	1	3	1	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23113642C>A	ENST00000219689.7	-	6	1231	c.1232G>T	c.(1231-1233)aGa>aTa	p.R411I		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	411					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TCCCTTACCTCTTTGACTGAG	0.383													A	23113642	C	A	23113642	3	1	364	1	0	0	0	0	1	0	0	0	17164	913	32	4	2870	4	USP31	16	23113642	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33173	23113642	67241111	11502	35004											
SCNN1B	6338	broad.mit.edu	37	chr16	23379247	23379247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actggggcatgacagagaagGcacttccttcggccaaccct	10	7	11	13	1	0	2	0	1	0	1	2	3	1	2	3	4	1	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23379247G>A	ENST00000343070.2	+	5	1023	c.847G>A	c.(847-849)Gca>Aca	p.A283T	SCNN1B_ENST00000568923.1_Missense_Mutation_p.A256T|SCNN1B_ENST00000307331.5_Missense_Mutation_p.A328T|SCNN1B_ENST00000568085.1_Missense_Mutation_p.A283T	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	283					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GACAGAGAAGGCACTTCCTTC	0.507													A	23379247	G	A	23379247	3	1	364	1	0	0	0	0	1	0	0	0	14021	1203	42	2	861	2	SCNN1B	16	23379247	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	265605	23379247	66975506	11503	35005											
COG7	91949	broad.mit.edu	37	chr16	23400310	23400310	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcctttgctgacctgTctatagtcctcaggcctggt	5	12	12	12	0	2	1	1	1	1	0	3	1	3	1	4	4	1	2	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23400310T>C	ENST00000307149.5	-	17	2429	c.2244A>G	c.(2242-2244)agA>agG	p.R748R		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	748					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGCTGACCTGTCTATAGTCCT	0.617													C	23400310	T	C	23400310	2	2	364	1	0	0	0	0	0	0	0	1	3694	1664	58	3		3	COG7	16	23400310	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	21063	23400310	66954443	11504	35006											
COG7	91949	broad.mit.edu	37	chr16	23404666	23404666	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggacatgatgtactgcccGatctgaaacaaaagaaagcg	16	6	11	8	2	1	3	0	2	1	1	1	5	1	4	1	1	4	1	1	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23404666G>A	ENST00000307149.5	-	15	2075	c.1890C>T	c.(1888-1890)atC>atT	p.I630I	COG7_ENST00000569635.1_Intron	NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	630					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TGTACTGCCCGATCTGAAACA	0.468													A	23404666	G	A	23404666	2	1	364	1	0	0	0	0	0	0	0	1	3694	1048	37	1		1	COG7	16	23404666	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4356	23404666	66950087	11505	35007											
COG7	91949	broad.mit.edu	37	chr16	23428437	23428437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtcaatcacttccccAtgctcctggtcagcaaatac	12	9	5	15	0	3	0	3	0	0	0	5	0	5	0	3	1	3	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23428437A>G	ENST00000307149.5	-	9	1328	c.1143T>C	c.(1141-1143)caT>caC	p.H381H		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	381					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		TCACTTCCCCATGCTCCTGGT	0.493													G	23428437	A	G	23428437	2	3	364	1	0	0	0	0	0	0	0	1	3694	214	8	3		3	COG7	16	23428437	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23771	23428437	66926316	11506	35008											
EARS2	124454	broad.mit.edu	37	chr16	23546566	23546566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctattccagccatagaccaGgtcctggaaggctggcacca	10	7	10	14	0	0	1	0	0	0	1	2	2	2	2	6	4	1	2	6	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23546566G>T	ENST00000449606.1	-	4	632	c.601C>A	c.(601-603)Ctg>Atg	p.L201M	EARS2_ENST00000564501.1_Missense_Mutation_p.L201M|EARS2_ENST00000563459.1_Missense_Mutation_p.L201M|EARS2_ENST00000564987.1_5'UTR|EARS2_ENST00000563232.1_Missense_Mutation_p.L201M	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	201					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	CCATAGACCAGGTCCTGGAAG	0.627													T	23546566	G	T	23546566	3	4	364	1	0	0	0	0	1	0	0	0	4917	991	35	4	994	4	EARS2	16	23546566	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118129	23546566	66808187	11507	35009											
EARS2	124454	broad.mit.edu	37	chr16	23556017	23556017	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgggggctctcatcaggCgggatgcctggaacacaggg	7	5	18	11	3	2	0	2	0	1	0	3	2	2	2	1	7	2	1	1	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23556017C>T	ENST00000449606.1	-	3	334	c.303G>A	c.(301-303)ccG>ccA	p.P101P	EARS2_ENST00000564501.1_Silent_p.P101P|EARS2_ENST00000563459.1_Silent_p.P101P|EARS2_ENST00000564987.1_Intron|EARS2_ENST00000563232.1_Silent_p.P101P	NM_001083614.1	NP_001077083.1	Q5JPH6	SYEM_HUMAN	glutamyl-tRNA synthetase 2, mitochondrial	101					glutamyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|glutamate-tRNA ligase activity|RNA binding			central_nervous_system(1)|endometrium(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8				GBM - Glioblastoma multiforme(48;0.0353)	L-Glutamic Acid(DB00142)	TCTCATCAGGCGGGATGCCTG	0.562													T	23556017	C	T	23556017	2	4	364	1	0	0	0	0	0	0	0	1	4917	755	27	1		1	EARS2	16	23556017	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9451	23556017	66798736	11508	35010											
UBFD1	56061	broad.mit.edu	37	chr16	23570943	23570943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacacacccaaagatgctgcGcagcaggatgcaaaggccga	15	3	11	12	2	0	1	0	0	0	1	0	3	0	2	2	2	5	4	2	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23570943G>A	ENST00000395878.3	+	3	891	c.510G>A	c.(508-510)gcG>gcA	p.A170A	UBFD1_ENST00000567264.1_Silent_p.A170A|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Silent_p.A394A|UBFD1_ENST00000567212.1_Silent_p.A161A	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	170										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		AAGATGCTGCGCAGCAGGATG	0.468													A	23570943	G	A	23570943	2	1	364	1	0	0	0	0	0	0	0	1	16986	1074	38	1		1	UBFD1	16	23570943	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14926	23570943	66783810	11509	35011											
PALB2	79728	broad.mit.edu	37	chr16	23641564	23641564	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacatttttgactcaaaGggctccactggtttttctga	10	14	7	10	0	2	2	1	2	1	0	3	2	3	2	2	2	1	2	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23641564G>T	ENST00000261584.4	-	5	2063	c.1911C>A	c.(1909-1911)ccC>ccA	p.P637P		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	637					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TTGACTCAAAGGGCTCCACTG	0.413			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					T	23641564	G	T	23641564	2	4	364	1	0	0	0	0	0	0	0	1	11482	987	35	4		4	PALB2	16	23641564	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70621	23641564	66713189	11510	35012											
PALB2	79728	broad.mit.edu	37	chr16	23646617	23646617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctactttcctctggcaattgGacatgcttcgtgttgttcta	6	17	8	10	1	2	0	0	0	2	0	4	1	3	1	1	2	2	4	1	2	3	7	rs45510998		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646617G>A	ENST00000261584.4	-	4	1402	c.1250C>T	c.(1249-1251)tCc>tTc	p.S417F		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	417					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CTGGCAATTGGACATGCTTCG	0.398			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					A	23646617	G	A	23646617	3	1	364	1	0	0	0	0	1	0	0	0	11482	1174	41	2	2350	2	PALB2	16	23646617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5053	23646617	66708136	11511	35013											
PALB2	79728	broad.mit.edu	37	chr16	23646985	23646985	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtagagacagtcattttTttgccttgtgcctccaaact	8	16	7	10	0	2	1	1	0	1	1	3	2	3	1	3	0	3	1	3	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23646985T>A	ENST00000261584.4	-	4	1034	c.882A>T	c.(880-882)aaA>aaT	p.K294N		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	294	Interaction with BRCA1.				double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		CAGTCATTTTTTTGCCTTGTG	0.368			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					A	23646985	T	A	23646985	3	1	364	1	0	0	0	0	1	0	0	0	11482	1838	64	5	2718	5	PALB2	16	23646985	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	368	23646985	66707768	11512	35014											
DCTN5	84516	broad.mit.edu	37	chr16	23654310	23654310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagtcgccagtcagtgtTgtgtggaagccagaacatcg	10	9	13	9	2	2	1	2	0	0	1	4	2	2	2	2	1	2	1	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23654310T>C	ENST00000300087.2	+	2	234	c.83T>C	c.(82-84)tTg>tCg	p.L28S	DCTN5_ENST00000568589.1_Missense_Mutation_p.L28S|DCTN5_ENST00000568272.1_Missense_Mutation_p.L28S|DCTN5_ENST00000563998.1_Missense_Mutation_p.L28S	NM_001199743.1|NM_032486.3	NP_001186672.1|NP_115875.1	Q9BTE1	DCTN5_HUMAN	dynactin 5 (p25)	28						centrosome	transferase activity			endometrium(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	10				GBM - Glioblastoma multiforme(48;0.0156)		CAGTCAGTGTTGTGTGGAAGC	0.473													C	23654310	T	C	23654310	3	2	364	1	0	0	0	0	1	0	0	0	4344	1821	63	3	89	3	DCTN5	16	23654310	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7325	23654310	66700443	11513	35015											
PLK1	5347	broad.mit.edu	37	chr16	23690654	23690654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtgttggagctctgccGccggagggtgagtgtcgctg	3	10	19	9	4	1	1	0	1	1	0	2	3	1	3	2	4	2	3	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23690654G>A	ENST00000300093.4	+	1	512	c.401G>A	c.(400-402)cGc>cAc	p.R134H	PLK1_ENST00000564202.1_3'UTR	NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	134	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		GAGCTCTGCCGCCGGAGGGTG	0.607													A	23690654	G	A	23690654	3	1	364	1	0	0	0	0	1	0	0	0	12171	1087	38	1	403	1	PLK1	16	23690654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36344	23690654	66664099	11514	35016											
ERN2	10595	broad.mit.edu	37	chr16	23702331	23702331	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacttggccgagtgcctgtcGcacctcaactgggagctccc	6	8	12	15	2	1	0	1	0	0	0	3	3	2	1	4	2	3	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702331G>A	ENST00000256797.4	-	22	2914	c.2746C>T	c.(2746-2748)Cga>Tga	p.R916*	ERN2_ENST00000457008.2_Nonsense_Mutation_p.R816*	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	868					apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		AGTGCCTGTCGCACCTCAACT	0.632													A	23702331	G	A	23702331	4	1	364	1	0	0	0	0	0	1	0	0	5279	1095	38	1	182	1	ERN2	16	23702331	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11677	23702331	66652422	11515	35017											
ERN2	10595	broad.mit.edu	37	chr16	23702503	23702503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtccccttataggaccGgaactttctcagatctgtgg	8	13	10	10	1	2	2	1	1	2	1	4	4	3	4	3	3	1	0	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23702503G>A	ENST00000256797.4	-	21	2827	c.2659C>T	c.(2659-2661)Cgg>Tgg	p.R887W	ERN2_ENST00000457008.2_Missense_Mutation_p.R787W	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	839	KEN.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTATAGGACCGGAACTTTCTC	0.627													A	23702503	G	A	23702503	3	1	364	1	0	0	0	0	1	0	0	0	5279	1115	39	1	273	1	ERN2	16	23702503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	23702503	66652250	11516	35018											
CHP2	63928	broad.mit.edu	37	chr16	23767169	23767169	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaatttggctttgcagcCgcatggatctccagcagata	10	12	10	9	1	1	2	0	1	1	1	2	3	1	3	2	2	3	4	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:23767169C>T	ENST00000300113.2	+	3	565	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	48	EF-hand 1.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GCTTTGCAGCCGCATGGATCT	0.567													T	23767169	C	T	23767169	5	4	364	1	0	0	0	0	0	0	1	0	3397	666	23	1	152	1	CHP2	16	23767169	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64666	23767169	66587584	11517	35019											
RBBP6	5930	broad.mit.edu	37	chr16	24567681	24567681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcactggaattcccaGaagtttcatgatggaagtga	15	9	11	6	0	1	4	1	2	0	2	2	6	2	6	1	2	1	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24567681G>T	ENST00000319715.4	+	7	1019	c.587G>T	c.(586-588)aGa>aTa	p.R196I	RBBP6_ENST00000381039.3_Missense_Mutation_p.R196I|RBBP6_ENST00000348022.2_Missense_Mutation_p.R196I	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	196					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GGAATTCCCAGAAGTTTCATG	0.368													T	24567681	G	T	24567681	3	4	364	1	0	0	0	0	1	0	0	0	13191	942	33	4	667	4	RBBP6	16	24567681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	800512	24567681	65787072	11518	35020											
RBBP6	5930	broad.mit.edu	37	chr16	24578499	24578499	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacaccacagcgaaagatCacagaggactcaaggcccgt	14	3	11	13	3	2	2	2	0	0	2	2	5	2	3	2	2	1	0	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24578499C>A	ENST00000319715.4	+	15	2057	c.1625C>A	c.(1624-1626)tCa>tAa	p.S542*	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Nonsense_Mutation_p.S542*	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	542					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGCGAAAGATCACAGAGGACT	0.458													A	24578499	C	A	24578499	4	1	364	1	0	0	0	0	0	1	0	0	13191	838	29	4	1737	4	RBBP6	16	24578499	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10818	24578499	65776254	11519	35021											
RBBP6	5930	broad.mit.edu	37	chr16	24580425	24580425	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagagaagttccaccacCatatgacatgaaagcatatt	17	9	6	9	0	0	3	0	2	0	1	1	4	1	3	3	0	2	2	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24580425C>A	ENST00000319715.4	+	17	2846	c.2414C>A	c.(2413-2415)cCa>cAa	p.P805Q	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P771Q	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	805					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		GTTCCACCACCATATGACATG	0.393													A	24580425	C	A	24580425	3	1	364	1	0	0	0	0	1	0	0	0	13191	594	21	4	2534	4	RBBP6	16	24580425	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1926	24580425	65774328	11520	35022											
RBBP6	5930	broad.mit.edu	37	chr16	24581121	24581121	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaaatattgtaaaacCtgctaaaggaccccaagaaa	22	6	6	7	0	0	2	0	0	0	2	0	3	0	3	3	1	2	2	3	1	11	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24581121C>A	ENST00000319715.4	+	17	3542	c.3110C>A	c.(3109-3111)cCt>cAt	p.P1037H	RBBP6_ENST00000381039.3_Intron|RBBP6_ENST00000348022.2_Missense_Mutation_p.P1003H	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1037	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		ATTGTAAAACCTGCTAAAGGA	0.403													A	24581121	C	A	24581121	3	1	364	1	0	0	0	0	1	0	0	0	13191	681	24	4	3230	4	RBBP6	16	24581121	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	696	24581121	65773632	11521	35023											
TNRC6A	27327	broad.mit.edu	37	chr16	24801111	24801111	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacttgccctaaaagggcCtgtagggagtggtagttctg	8	11	15	7	0	1	0	0	0	1	0	1	2	1	2	2	4	1	3	2	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24801111C>A	ENST00000395799.3	+	6	1277	c.1148C>A	c.(1147-1149)cCt>cAt	p.P383H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.P383H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	383	Sufficient for interaction with EIF2C1, EIF2C3 and EIF2C4.|Sufficient for interaction with EIF2C2.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CTAAAAGGGCCTGTAGGGAGT	0.438													A	24801111	C	A	24801111	3	1	364	1	0	0	0	0	1	0	0	0	16440	681	24	4	1170	4	TNRC6A	16	24801111	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219990	24801111	65553642	11522	35024											
TNRC6A	27327	broad.mit.edu	37	chr16	24815620	24815620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaagagtcttccatggagCgcaatccttattttgataag	12	12	8	9	1	1	2	0	1	1	1	3	3	3	3	3	1	1	1	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24815620C>T	ENST00000395799.3	+	12	3946	c.3817C>T	c.(3817-3819)Cgc>Tgc	p.R1273C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1273C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1273	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCCATGGAGCGCAATCCTTA	0.378													T	24815620	C	T	24815620	3	4	364	1	0	0	0	0	1	0	0	0	16440	768	27	1	3863	1	TNRC6A	16	24815620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14509	24815620	65539133	11523	35025											
SLC5A11	115584	broad.mit.edu	37	chr16	24888627	24888627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccagcagtctttgcacctgGatctgtacctggccatagtt	7	13	9	12	0	2	0	0	0	2	0	3	1	3	1	4	2	3	4	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24888627G>A	ENST00000347898.3	+	7	1148	c.526G>A	c.(526-528)Gat>Aat	p.D176N	SLC5A11_ENST00000568579.1_Missense_Mutation_p.D106N|SLC5A11_ENST00000565769.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000567758.1_Missense_Mutation_p.D141N|SLC5A11_ENST00000539472.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000424767.2_Missense_Mutation_p.D141N|SLC5A11_ENST00000569071.1_Missense_Mutation_p.D112N|SLC5A11_ENST00000449109.2_Missense_Mutation_p.D112N|SLC5A11_ENST00000545376.1_Missense_Mutation_p.D106N	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	176					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		TTTGCACCTGGATCTGTACCT	0.483													A	24888627	G	A	24888627	3	1	364	1	0	0	0	0	1	0	0	0	14757	1174	41	2	548	2	SLC5A11	16	24888627	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73007	24888627	65466126	11524	35026											
ARHGAP17	55114	broad.mit.edu	37	chr16	24942135	24942135	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagctgttggtgctgTgttggtgaggctgctgtccc	3	14	16	8	0	0	1	0	1	0	0	1	2	1	2	1	4	3	6	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:24942135T>C	ENST00000289968.6	-	19	2554	c.2485A>G	c.(2485-2487)Aca>Gca	p.T829A	ARHGAP17_ENST00000303665.5_Missense_Mutation_p.T751A|ARHGAP17_ENST00000441763.2_3'UTR	NM_001006634.1	NP_001006635.1	Q68EM7	RHG17_HUMAN	Rho GTPase activating protein 17	829					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|tight junction	GTPase activator activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|urinary_tract(2)	30				GBM - Glioblastoma multiforme(48;0.0407)		GTTGGTGCTGTGTTGGTGAGG	0.527													C	24942135	T	C	24942135	3	2	364	1	0	0	0	0	1	0	0	0	870	1696	59	3	168	3	ARHGAP17	16	24942135	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53508	24942135	65412618	11525	35027											
LCMT1	51451	broad.mit.edu	37	chr16	25143737	25143737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctaggatattttgctcgaGtccatggtgtcagtcagctt	7	14	10	10	1	2	0	2	0	0	0	4	2	3	1	2	2	2	2	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25143737G>A	ENST00000399069.3	+	3	375	c.220G>A	c.(220-222)Gtc>Atc	p.V74I	LCMT1_ENST00000380966.4_Missense_Mutation_p.V74I	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	74							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	TTTTGCTCGAGTCCATGGTGT	0.493													A	25143737	G	A	25143737	3	1	364	1	0	0	0	0	1	0	0	0	8737	1029	36	2	230	2	LCMT1	16	25143737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	201602	25143737	65211016	11526	35028											
LCMT1	51451	broad.mit.edu	37	chr16	25175976	25175976	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgactccagagcagtcCgcaaacctcctgaagtgggc	11	7	10	13	1	0	3	0	2	0	1	3	3	3	3	4	1	3	2	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25175976C>T	ENST00000399069.3	+	7	782	c.627C>T	c.(625-627)tcC>tcT	p.S209S	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Silent_p.S154S	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	209							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity	p.S209S(1)							GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	CAGAGCAGTCCGCAAACCTCC	0.428													T	25175976	C	T	25175976	2	4	364	1	0	0	0	0	0	0	0	1	8737	639	23	1		1	LCMT1	16	25175976	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32239	25175976	65178777	11527	35029											
LCMT1	51451	broad.mit.edu	37	chr16	25180518	25180518	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcgggagtggagacctgcaAgtcattagagtcacaggtca	11	7	15	8	1	3	2	3	0	0	2	3	4	3	3	1	4	1	1	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25180518A>C	ENST00000399069.3	+	8	931	c.776A>C	c.(775-777)aAg>aCg	p.K259T	LCMT1_ENST00000572869.1_3'UTR|LCMT1_ENST00000380966.4_Missense_Mutation_p.K204T	NM_016309.2	NP_057393.2	Q9UIC8	LCMT1_HUMAN	leucine carboxyl methyltransferase 1	259							protein binding|protein C-terminal carboxyl O-methyltransferase activity|S-adenosylmethionine-dependent methyltransferase activity								GBM - Glioblastoma multiforme(48;0.0336)	L-Leucine(DB00149)	GAGACCTGCAAGTCATTAGAG	0.493													C	25180518	A	C	25180518	3	2	364	1	0	0	0	0	1	0	0	0	8737	72	3	5	806	5	LCMT1	16	25180518	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4542	25180518	65174235	11528	35030											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25255310	25255311	+	Frame_Shift_Ins	INS	-	-	G																															gggacttcctctggggtgctINSgggggaaggagcagatgccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25255310_25255311insG	ENST00000328086.7	-	6	2579_2580	c.1776_1777insC	c.(1774-1779)cccagcfs	p.S593fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	593					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTGGGGTGCTGGGGGAAGGAG	0.545													G	25255311	-	G	25255310	7	5	364	1	0	1	1	0	0	0	0	0	17788	1580	55	0	1134	0	ZKSCAN2	16	25255310	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	74792	25255310	65099443	11529	35031											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258112	25258112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcatcatcatcagaatCttctgcagcttcctcctcct	8	16	3	14	0	6	1	4	0	2	1	9	1	9	1	3	0	2	2	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258112C>A	ENST00000328086.7	-	5	2208	c.1405G>T	c.(1405-1407)Gat>Tat	p.D469Y		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	469					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCATCAGAATCTTCTGCAGCT	0.443													A	25258112	C	A	25258112	3	1	364	1	0	0	0	0	1	0	0	0	17788	913	32	4	1510	4	ZKSCAN2	16	25258112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2802	25258112	65096641	11530	35032											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25258460	25258460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgagactctttgagaattgCcaggaaagtctttgtttcct	9	14	10	8	1	2	2	0	1	2	2	3	5	3	3	2	1	1	1	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25258460C>T	ENST00000328086.7	-	5	1860	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	353					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TTGAGAATTGCCAGGAAAGTC	0.468													T	25258460	C	T	25258460	3	4	364	1	0	0	0	0	1	0	0	0	17788	739	26	2	1858	2	ZKSCAN2	16	25258460	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	348	25258460	65096293	11531	35033											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25263243	25263243	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttacccagggagaccacGttcccaacattctccttcct	8	11	5	17	1	1	1	0	0	1	1	5	2	4	1	6	1	2	1	6	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:25263243G>A	ENST00000328086.7	-	4	1595	c.792C>T	c.(790-792)aaC>aaT	p.N264N		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	264	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GGGAGACCACGTTCCCAACAT	0.448													A	25263243	G	A	25263243	2	1	364	1	0	0	0	0	0	0	0	1	17788	1136	40	1		1	ZKSCAN2	16	25263243	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4783	25263243	65091510	11532	35034											
NSMCE1	197370	broad.mit.edu	37	chr16	27268844	27268844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcagcaactggaggaagcgCcggtggacatcagtcatgac	12	6	13	10	2	3	1	3	1	0	0	3	4	3	4	1	4	3	1	1	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27268844C>T	ENST00000361439.4	-	2	147	c.48G>A	c.(46-48)cgG>cgA	p.R16R		NM_145080.3	NP_659547.2	Q8WV22	NSE1_HUMAN	non-SMC element 1 homolog (S. cerevisiae)	16					DNA recombination|DNA repair|intracellular signal transduction	nucleus	zinc ion binding			endometrium(2)|large_intestine(2)|lung(3)	7						GGAGGAAGCGCCGGTGGACAT	0.542													T	27268844	C	T	27268844	2	4	364	1	0	0	0	0	0	0	0	1	10751	726	26	2		2	NSMCE1	16	27268844	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2005601	27268844	63085909	11533	35035											
IL21R	50615	broad.mit.edu	37	chr16	27460361	27460361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttgcagatggggaggaCtgggctgggggactgccctg	5	7	18	11	0	0	1	0	0	0	1	0	4	0	4	3	6	2	2	3	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27460361C>T	ENST00000337929.3	+	9	1847	c.1374C>T	c.(1372-1374)gaC>gaT	p.D458D	IL21R_ENST00000564089.1_Silent_p.D458D|IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000395755.1_Silent_p.D458D|IL21R_ENST00000395754.4_Silent_p.D458D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	458					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ATGGGGAGGACTGGGCTGGGG	0.662			T	BCL6	NHL								T	27460361	C	T	27460361	2	4	364	1	0	0	0	0	0	0	0	1	7729	564	20	2		2	IL21R	16	27460361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191517	27460361	62894392	11534	35036											
GTF3C1	2975	broad.mit.edu	37	chr16	27472858	27472858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcagccagcgcttcCggatgcagccgagggactcc	6	8	12	15	3	1	0	1	0	1	0	4	3	3	2	4	2	4	3	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27472858C>T	ENST00000356183.4	-	37	6158	c.6143G>A	c.(6142-6144)cGg>cAg	p.R2048Q	GTF3C1_ENST00000561623.1_Missense_Mutation_p.R2023Q	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	2048						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CCAGCGCTTCCGGATGCAGCC	0.587													T	27472858	C	T	27472858	3	4	364	1	0	0	0	0	1	0	0	0	6927	652	23	1	190	1	GTF3C1	16	27472858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12497	27472858	62881895	11535	35037											
GTF3C1	2975	broad.mit.edu	37	chr16	27504543	27504543	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtacagaagctgctgccgAatgggcctggggagaaagcg	10	7	16	8	2	0	2	0	0	0	2	0	4	0	2	2	3	5	3	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27504543A>G	ENST00000356183.4	-	17	2868	c.2853T>C	c.(2851-2853)atT>atC	p.I951I	GTF3C1_ENST00000561623.1_Silent_p.I951I	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	951						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTGCTGCCGAATGGGCCTGG	0.537													G	27504543	A	G	27504543	2	3	364	1	0	0	0	0	0	0	0	1	6927	242	9	3		3	GTF3C1	16	27504543	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31685	27504543	62850210	11536	35038											
GTF3C1	2975	broad.mit.edu	37	chr16	27508992	27508992	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatttctaagcggggttatGcccattttattatcactttt	9	19	6	7	1	2	0	1	0	1	0	2	0	2	0	1	2	2	1	1	2	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27508992G>A	ENST00000356183.4	-	14	2331	c.2316C>T	c.(2314-2316)ggC>ggT	p.G772G	GTF3C1_ENST00000561623.1_Silent_p.G772G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	772						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCGGGGTTATGCCCATTTTAT	0.418													A	27508992	G	A	27508992	2	1	364	1	0	0	0	0	0	0	0	1	6927	1306	46	2		2	GTF3C1	16	27508992	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4449	27508992	62845761	11537	35039											
GTF3C1	2975	broad.mit.edu	37	chr16	27510034	27510034	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcgttctggtccatggaCgggtgcaccaccagatccac	7	8	13	13	2	1	1	0	0	1	1	4	2	3	2	4	4	1	2	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27510034C>T	ENST00000356183.4	-	13	2097	c.2082G>A	c.(2080-2082)ccG>ccA	p.P694P	GTF3C1_ENST00000561623.1_Silent_p.P694P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	694						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GGTCCATGGACGGGTGCACCA	0.582													T	27510034	C	T	27510034	2	4	364	1	0	0	0	0	0	0	0	1	6927	523	19	1		1	GTF3C1	16	27510034	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1042	27510034	62844719	11538	35040											
GTF3C1	2975	broad.mit.edu	37	chr16	27518325	27518325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctcgccttcaggcagaagCgactcctcctgcatagacgc	8	8	9	16	3	1	2	1	0	0	2	5	3	4	2	4	1	2	2	4	1	2	2	rs148269085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518325C>T	ENST00000356183.4	-	9	1410	c.1395G>A	c.(1393-1395)tcG>tcA	p.S465S	GTF3C1_ENST00000561623.1_Silent_p.S465S	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	465						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CAGGCAGAAGCGACTCCTCCT	0.597													T	27518325	C	T	27518325	2	4	364	1	0	0	0	0	0	0	0	1	6927	755	27	1		1	GTF3C1	16	27518325	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8291	27518325	62836428	11539	35041											
GTF3C1	2975	broad.mit.edu	37	chr16	27518347	27518347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcctgcatagacgccAggctcacggtggtcaagagc	9	7	11	14	2	2	2	2	0	0	2	4	2	4	2	3	3	2	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27518347A>G	ENST00000356183.4	-	9	1388	c.1373T>C	c.(1372-1374)cTg>cCg	p.L458P	GTF3C1_ENST00000561623.1_Missense_Mutation_p.L458P	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	458						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						CATAGACGCCAGGCTCACGGT	0.597													G	27518347	A	G	27518347	3	3	364	1	0	0	0	0	1	0	0	0	6927	188	7	3	5072	3	GTF3C1	16	27518347	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22	27518347	62836406	11540	35042											
GTF3C1	2975	broad.mit.edu	37	chr16	27544670	27544670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtccgtgtgctcagcatgAccgaaagcttctccatgagg	9	10	11	11	2	2	2	1	2	1	0	4	3	3	2	3	1	3	3	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544670A>C	ENST00000356183.4	-	5	806	c.791T>G	c.(790-792)gTc>gGc	p.V264G	GTF3C1_ENST00000561623.1_Missense_Mutation_p.V264G	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	264						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						GCTCAGCATGACCGAAAGCTT	0.522													C	27544670	A	C	27544670	3	2	364	1	0	0	0	0	1	0	0	0	6927	275	10	5	5670	5	GTF3C1	16	27544670	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26323	27544670	62810083	11541	35043											
GTF3C1	2975	broad.mit.edu	37	chr16	27544702	27544702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgaggatgtcgtatttGctcctcctgcaagaaacacc	10	11	8	12	1	0	2	0	1	0	1	4	3	3	3	4	1	3	3	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27544702G>C	ENST00000356183.4	-	5	774	c.759C>G	c.(757-759)agC>agG	p.S253R	GTF3C1_ENST00000561623.1_Missense_Mutation_p.S253R	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	253						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGTCGTATTTGCTCCTCCTGC	0.468													C	27544702	G	C	27544702	3	2	364	1	0	0	0	0	1	0	0	0	6927	1310	46	4	5702	4	GTF3C1	16	27544702	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	27544702	62810051	11542	35044											
KIAA0556	23247	broad.mit.edu	37	chr16	27751589	27751589	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacaaggagcttggtctCggttgctcaccgccagctga	7	8	15	11	2	2	1	1	1	1	0	3	3	2	3	2	5	3	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27751589C>T	ENST00000261588.4	+	15	1990	c.1971C>T	c.(1969-1971)ctC>ctT	p.L657L		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	657										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGCTTGGTCTCGGTTGCTCAC	0.502													T	27751589	C	T	27751589	2	4	364	1	0	0	0	0	0	0	0	1	8241	871	31	1		1	KIAA0556	16	27751589	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206887	27751589	62603164	11543	35045											
KIAA0556	23247	broad.mit.edu	37	chr16	27789064	27789064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgaggacagggacatccGccaccaggagaaacacacca	15	1	10	15	2	0	1	0	0	0	1	1	5	1	3	5	3	1	0	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:27789064G>A	ENST00000261588.4	+	26	4704	c.4685G>A	c.(4684-4686)cGc>cAc	p.R1562H		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1562										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						AGGGACATCCGCCACCAGGAG	0.657													A	27789064	G	A	27789064	3	1	364	1	0	0	0	0	1	0	0	0	8241	1087	38	1	4787	1	KIAA0556	16	27789064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37475	27789064	62565689	11544	35046											
XPO6	23214	broad.mit.edu	37	chr16	28117818	28117818	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcatctcatcagtcacaTctgaggaaaggggcagagat	13	8	11	9	0	5	2	4	1	2	1	6	4	5	3	0	3	1	2	0	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28117818T>A	ENST00000304658.5	-	19	2998	c.2498A>T	c.(2497-2499)gAt>gTt	p.D833V	XPO6_ENST00000565698.1_Splice_Site_p.D819V	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	833					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ATCAGTCACATCTGAGGAAAG	0.483													A	28117818	T	A	28117818	5	1	364	1	0	0	0	0	0	0	1	0	17550	1449	50	5	903	5	XPO6	16	28117818	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	328754	28117818	62236935	11545	35047											
XPO6	23214	broad.mit.edu	37	chr16	28123322	28123322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctcggcacaccaacacCtgggcctacaagagacccca	12	3	10	16	1	0	1	0	0	0	1	1	2	0	1	5	3	2	2	5	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28123322C>A	ENST00000304658.5	-	17	2657	c.2157G>T	c.(2155-2157)caG>caT	p.Q719H	XPO6_ENST00000565698.1_Missense_Mutation_p.Q705H	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	719					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						ACACCAACACCTGGGCCTACA	0.602													A	28123322	C	A	28123322	3	1	364	1	0	0	0	0	1	0	0	0	17550	680	24	4	1252	4	XPO6	16	28123322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5504	28123322	62231431	11546	35048											
XPO6	23214	broad.mit.edu	37	chr16	28187242	28187242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaaatgttagtaaaaaagtCgtggtagaacatgggccaat	17	10	10	4	1	0	1	0	0	0	1	1	1	0	1	1	2	1	3	1	2	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28187242C>T	ENST00000304658.5	-	4	882	c.382G>A	c.(382-384)Gac>Aac	p.D128N	XPO6_ENST00000565698.1_Missense_Mutation_p.D114N	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	128					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						GTAAAAAAGTCGTGGTAGAAC	0.378													T	28187242	C	T	28187242	3	4	364	1	0	0	0	0	1	0	0	0	17550	884	31	1	3079	1	XPO6	16	28187242	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63920	28187242	62167511	11547	35049											
SBK1	388228	broad.mit.edu	37	chr16	28328853	28328853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccgcacactggccgccagCgacgtcaccaagcactacga	10	4	9	18	5	1	0	1	0	0	0	2	2	2	0	4	1	3	2	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28328853C>T	ENST00000341901.4	+	2	930	c.141C>T	c.(139-141)agC>agT	p.S47S		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	47						cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						TGGCCGCCAGCGACGTCACCA	0.632											OREG0023701	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28328853	C	T	28328853	2	4	364	1	0	0	0	0	0	0	0	1	13952	767	27	1		1	SBK1	16	28328853	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141611	28328853	62025900	11548	35050											
CLN3	1201	broad.mit.edu	37	chr16	28493460	28493460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcccaggtgaaacggatgCgacagcagcggagagaagag	13	2	18	8	3	0	3	0	1	0	2	0	7	0	5	1	4	4	1	1	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28493460C>T	ENST00000569430.1	-	15	1841	c.1022G>A	c.(1021-1023)cGc>cAc	p.R341H	CLN3_ENST00000355477.5_Missense_Mutation_p.R293H|CLN3_ENST00000360019.2_Missense_Mutation_p.R341H|CLN3_ENST00000395653.4_Missense_Mutation_p.R241H|CLN3_ENST00000567963.1_Intron|CLN3_ENST00000357857.9_Missense_Mutation_p.R287H|CLN3_ENST00000333496.9_Missense_Mutation_p.R317H|CLN3_ENST00000357806.7_Missense_Mutation_p.R242H|CLN3_ENST00000359984.7_Missense_Mutation_p.R341H|CLN3_ENST00000565316.1_Missense_Mutation_p.R324H|CLN3_ENST00000535392.1_Missense_Mutation_p.R263H|CLN3_ENST00000568224.1_Missense_Mutation_p.R263H|CLN3_ENST00000354630.5_Missense_Mutation_p.R324H|CLN3_ENST00000357076.5_Missense_Mutation_p.R231H			Q13286	CLN3_HUMAN	ceroid-lipofuscinosis, neuronal 3	341					amyloid precursor protein catabolic process|arginine transport|associative learning|autophagic vacuole fusion|cell death|cellular amino acid metabolic process|cytosolic calcium ion homeostasis|galactosylceramide metabolic process|globoside metabolic process|glucosylceramide metabolic process|ionotropic glutamate receptor signaling pathway|lysosomal lumen acidification|lysosomal lumen pH elevation|negative regulation of catalytic activity|negative regulation of macroautophagy|negative regulation of neuron apoptosis|negative regulation of proteolysis|neuromuscular process controlling balance|neurotransmitter metabolic process|protein catabolic process|protein folding|protein processing|receptor-mediated endocytosis|regulation of action potential|sphingomyelin metabolic process|vacuolar transport	autophagic vacuole|caveola|cytosol|early endosome|Golgi membrane|Golgi stack|integral to endoplasmic reticulum membrane|late endosome|lysosomal membrane|membrane fraction|mitochondrion|neuron projection|nucleus|synaptic vesicle|trans-Golgi network	unfolded protein binding			breast(1)|large_intestine(2)|lung(11)|upper_aerodigestive_tract(1)	15						GAAACGGATGCGACAGCAGCG	0.637													T	28493460	C	T	28493460	3	4	364	1	0	0	0	0	1	0	0	0	3574	768	27	1	306	1	CLN3	16	28493460	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164607	28493460	61861293	11549	35051											
NUPR1	26471	broad.mit.edu	37	chr16	28549344	28549344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctccagctctgtctcagCgccgtgcccctcgcttcttc	3	12	7	19	3	3	0	1	0	3	0	7	0	4	0	5	0	4	2	5	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28549344C>T	ENST00000324873.6	-	2	511	c.245G>A	c.(244-246)cGc>cAc	p.R82H	NUPR1_ENST00000395641.2_Missense_Mutation_p.R100H	NM_001042483.1|NM_012385.2	NP_001035948.1|NP_036517.1	O60356	NUPR1_HUMAN	nuclear protein, transcriptional regulator, 1	82					cell growth|induction of apoptosis	nucleus				breast(1)|large_intestine(1)|lung(1)	3						TCTGTCTCAGCGCCGTGCCCC	0.622													T	28549344	C	T	28549344	3	4	364	1	0	0	0	0	1	0	0	0	10852	768	27	1	7	1	NUPR1	16	28549344	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55884	28549344	61805409	11550	35052											
CCDC101	112869	broad.mit.edu	37	chr16	28596240	28596240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttttccttacaggaagagCgttcgcggagcgaacacaac	11	9	10	11	4	1	1	0	0	1	1	3	4	2	3	1	2	5	1	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28596240C>T	ENST00000317058.3	+	3	269	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C		NM_138414.2	NP_612423.1	Q96ES7	SGF29_HUMAN	coiled-coil domain containing 101	28					establishment of protein localization to chromatin|histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|SAGA-type complex	methylated histone residue binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	10						ACAGGAAGAGCGTTCGCGGAG	0.557													T	28596240	C	T	28596240	3	4	364	1	0	0	0	0	1	0	0	0	2761	768	27	1	88	1	CCDC101	16	28596240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46896	28596240	61758513	11551	35053											
SULT1A2	6799	broad.mit.edu	37	chr16	28604833	28604833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggtacactttggccatgtgGtagaagtggtagtaggaaac	11	10	15	5	0	0	1	0	0	0	1	0	2	0	2	1	5	2	4	1	5	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28604833G>A	ENST00000395630.1	-	5	779	c.429C>T	c.(427-429)taC>taT	p.Y143Y	SULT1A2_ENST00000533150.1_Intron|SULT1A2_ENST00000335715.4_Silent_p.Y143Y	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	143					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TGGCCATGTGGTAGAAGTGGT	0.567													A	28604833	G	A	28604833	2	1	364	1	0	0	0	0	0	0	0	1	15469	1256	44	2		2	SULT1A2	16	28604833	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8593	28604833	61749920	11552	35054											
ATXN2L	11273	broad.mit.edu	37	chr16	28844586	28844586	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggcactgaggggccagaGcagcccccaccaccttgtcc	8	4	13	16	0	0	2	0	1	0	1	1	3	1	3	6	4	2	2	6	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28844586G>A	ENST00000336783.4	+	14	2033	c.1866G>A	c.(1864-1866)gaG>gaA	p.E622E	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.E622E|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.E622E|ATXN2L_ENST00000564304.1_Silent_p.E628E|ATXN2L_ENST00000570200.1_Silent_p.E622E|ATXN2L_ENST00000395547.2_Silent_p.E622E|ATXN2L_ENST00000340394.8_Silent_p.E622E	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	622						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGGGCCAGAGCAGCCCCCAC	0.617													A	28844586	G	A	28844586	2	1	364	1	0	0	0	0	0	0	0	1	1217	962	34	2		2	ATXN2L	16	28844586	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	239753	28844586	61510167	11553	35055											
ATXN2L	11273	broad.mit.edu	37	chr16	28846456	28846456	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggccatcgtgtcatcCtctacccctcagtacccttc	6	10	5	20	1	3	0	2	0	1	0	6	0	4	0	7	1	2	1	7	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28846456C>A	ENST00000336783.4	+	19	2678	c.2511C>A	c.(2509-2511)tcC>tcA	p.S837S	ATXN2L_ENST00000565845.1_3'UTR|ATXN2L_ENST00000325215.6_Silent_p.S837S|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000382686.4_Silent_p.S837S|ATXN2L_ENST00000564304.1_Silent_p.S843S|ATXN2L_ENST00000570200.1_Silent_p.S837S|ATXN2L_ENST00000395547.2_Silent_p.S837S|ATXN2L_ENST00000340394.8_Silent_p.S837S	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	837						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TCGTGTCATCCTCTACCCCTC	0.642													A	28846456	C	A	28846456	2	1	364	1	0	0	0	0	0	0	0	1	1217	668	24	4		4	ATXN2L	16	28846456	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1870	28846456	61508297	11554	35056											
TUFM	7284	broad.mit.edu	37	chr16	28855565	28855565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaacctgtcaccacagtgCggatgttcttgctatgtcct	8	12	8	13	1	2	0	1	0	1	0	3	1	3	1	4	1	3	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28855565C>T	ENST00000313511.3	-	7	1046	c.908G>A	c.(907-909)cGc>cAc	p.R303H		NM_003321.4	NP_003312.3	P49411	EFTU_HUMAN	Tu translation elongation factor, mitochondrial	300						mitochondrial nucleoid	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	13						CACCACAGTGCGGATGTTCTT	0.582													T	28855565	C	T	28855565	3	4	364	1	0	0	0	0	1	0	0	0	16873	768	27	1	475	1	TUFM	16	28855565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9109	28855565	61499188	11555	35057											
SH2B1	25970	broad.mit.edu	37	chr16	28877767	28877767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagggtgggtgggcccctgGctgtgctgggcccttctcga	2	9	18	12	1	1	0	0	0	1	0	2	1	1	0	3	5	1	3	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28877767G>A	ENST00000337120.5	+	1	3643	c.352G>A	c.(352-354)Gct>Act	p.A118T	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.A118T|SH2B1_ENST00000545570.1_Intron|SH2B1_ENST00000395532.4_Missense_Mutation_p.A118T|SH2B1_ENST00000538342.1_Intron|SH2B1_ENST00000322610.8_Missense_Mutation_p.A118T	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	118	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).|Interaction with RAC1 (By similarity).|Required for NGF signaling (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						TGGGCCCCTGGCTGTGCTGGG	0.637													A	28877767	G	A	28877767	3	1	364	1	0	0	0	0	1	0	0	0	14320	1203	42	2	354	2	SH2B1	16	28877767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22202	28877767	61476986	11556	35058											
SH2B1	25970	broad.mit.edu	37	chr16	28883304	28883304	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acactccggaaacagccacaGgtaccggaggtgtgagtgtg	11	6	14	10	2	0	1	0	1	0	0	1	3	1	3	3	4	3	1	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28883304G>T	ENST00000337120.5	+	5	4804	c.1513G>T	c.(1513-1515)Ggg>Tgg	p.G505W	SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Splice_Site_p.G505W|SH2B1_ENST00000545570.1_Splice_Site_p.G195W|SH2B1_ENST00000395532.4_Splice_Site_p.G505W|SH2B1_ENST00000538342.1_Splice_Site_p.G169W|SH2B1_ENST00000322610.8_Splice_Site_p.G505W	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	505	Interaction with JAK2 (low-affinity binding; independent of JAK2 phosphorylation) (By similarity).				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						AACAGCCACAGGTACCGGAGG	0.642													T	28883304	G	T	28883304	5	4	364	1	0	0	0	0	0	0	1	0	14320	1014	35	4	1531	4	SH2B1	16	28883304	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5537	28883304	61471449	11557	35059											
RABEP2	79874	broad.mit.edu	37	chr16	28925758	28925758	+	Silent	SNP	G	G	A																															gagaaggaggagatggaggcGctgtcatcgcagttgtgagc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925758G>A	ENST00000358201.4	-	5	1281	c.693C>T	c.(691-693)agC>agT	p.S231S	RABEP2_ENST00000544477.1_Silent_p.S160S|RABEP2_ENST00000357573.6_Silent_p.S231S	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	231					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AGATGGAGGCGCTGTCATCGC	0.682													A	28925758	G	A	28925758	2	1	364	1	0	0	0	0	0	0	0	1	13050	1078	38	1		1	RABEP2	16	28925758	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42454	28925758	61428995	11558	35060	101	2									
RABEP2	79874	broad.mit.edu	37	chr16	28925767	28925767	+	Silent	SNP	G	G	A																															gagatggaggcgctgtcatcGcagttgtgagcgaaggcctc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28925767G>A	ENST00000358201.4	-	5	1272	c.684C>T	c.(682-684)tgC>tgT	p.C228C	RABEP2_ENST00000544477.1_Silent_p.C157C|RABEP2_ENST00000357573.6_Silent_p.C228C	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	228					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						CGCTGTCATCGCAGTTGTGAG	0.677													A	28925767	G	A	28925767	2	1	364	1	0	0	0	0	0	0	0	1	13050	1079	38	1		1	RABEP2	16	28925767	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	28925767	61428986	11559	35061	101	2									
SPNS1	83985	broad.mit.edu	37	chr16	28990543	28990543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagttattccaccatcgCgcccactctcattgccgacc	7	9	7	18	3	1	0	1	0	1	0	4	1	2	0	6	1	1	1	6	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28990543C>T	ENST00000311008.11	+	4	889	c.512C>T	c.(511-513)gCg>gTg	p.A171V	SPNS1_ENST00000561868.1_3'UTR|SPNS1_ENST00000323081.8_Missense_Mutation_p.A98V|SPNS1_ENST00000565975.1_Missense_Mutation_p.A216V|SPNS1_ENST00000352260.7_Missense_Mutation_p.A149V|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.A171V	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	171					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCACCATCGCGCCCACTCTC	0.657													T	28990543	C	T	28990543	3	4	364	1	0	0	0	0	1	0	0	0	15170	768	27	1	526	1	SPNS1	16	28990543	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64776	28990543	61364210	11560	35062											
SPNS1	83985	broad.mit.edu	37	chr16	28994535	28994535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggtgatccctacccgacGctccaccgccgaggccttcc	5	7	10	19	5	0	1	0	1	0	0	3	3	3	1	7	2	1	1	7	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28994535G>A	ENST00000311008.11	+	10	1621	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	SPNS1_ENST00000323081.8_Missense_Mutation_p.R342H|SPNS1_ENST00000565975.1_Missense_Mutation_p.R460H|SPNS1_ENST00000352260.7_Missense_Mutation_p.R341H|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Missense_Mutation_p.R363H	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	415					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						CCTACCCGACGCTCCACCGCC	0.632													A	28994535	G	A	28994535	3	1	364	1	0	0	0	0	1	0	0	0	15170	1087	38	1	1282	1	SPNS1	16	28994535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3992	28994535	61360218	11561	35063											
SPNS1	83985	broad.mit.edu	37	chr16	28995229	28995229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagccttcctgggcacCgccatcttcattgaggccga	6	8	12	15	3	2	1	1	1	1	0	3	2	3	1	5	3	1	2	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28995229C>T	ENST00000311008.11	+	11	1820	c.1443C>T	c.(1441-1443)acC>acT	p.T481T	SPNS1_ENST00000323081.8_Silent_p.T408T|SPNS1_ENST00000565975.1_Silent_p.T526T|SPNS1_ENST00000352260.7_Silent_p.T407T|RP11-264B17.3_ENST00000569969.1_RNA|SPNS1_ENST00000334536.8_Silent_p.T429T	NM_032038.2	NP_114427.1	Q9H2V7	SPNS1_HUMAN	spinster homolog 1 (Drosophila)	481					lipid transport|transmembrane transport	integral to membrane|mitochondrial inner membrane	protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)|urinary_tract(1)	21						TCCTGGGCACCGCCATCTTCA	0.652													T	28995229	C	T	28995229	2	4	364	1	0	0	0	0	0	0	0	1	15170	639	23	1		1	SPNS1	16	28995229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	694	28995229	61359524	11562	35064											
LAT	27040	broad.mit.edu	37	chr16	28997063	28997063	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcacatcctcagataggTgagtccgccccagccgccct	9	6	9	17	2	1	2	1	1	0	1	3	2	3	2	6	1	2	1	6	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:28997063T>C	ENST00000395456.2	+	2	450		c.e2+2		LAT_ENST00000564277.1_Splice_Site|LAT_ENST00000395461.3_Splice_Site|LAT_ENST00000360872.5_Splice_Site|LAT_ENST00000563964.1_Splice_Site|LAT_ENST00000566177.1_Splice_Site|LAT_ENST00000454369.2_Splice_Site|LAT_ENST00000354453.4_Splice_Site|RP11-264B17.3_ENST00000569969.1_RNA	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells						calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTCAGATAGGTGAGTCCGCCC	0.647													C	28997063	T	C	28997063	5	2	364	1	0	0	0	0	0	0	1	0	8703	1710	59	3	248	3	LAT	16	28997063	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1834	28997063	61357690	11563	35065											
SPN	6693	broad.mit.edu	37	chr16	29675059	29675059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcctggaaatggccacgCttctccttctccttggggtg	4	14	11	12	1	2	0	0	0	2	0	4	1	2	1	4	4	1	1	4	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29675059C>T	ENST00000360121.3	+	2	102	c.10C>T	c.(10-12)Ctt>Ttt	p.L4F	SPN_ENST00000395389.2_Missense_Mutation_p.L4F	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	4					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						AATGGCCACGCTTCTCCTTCT	0.627													T	29675059	C	T	29675059	3	4	364	1	0	0	0	0	1	0	0	0	15169	797	28	2	12	2	SPN	16	29675059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	677996	29675059	60679694	11564	35066											
SPN	6693	broad.mit.edu	37	chr16	29676225	29676225	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagctcctgatgagccCgaagggggagacggggctgc	7	4	17	13	2	0	3	0	2	0	1	1	5	1	3	4	4	3	2	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29676225C>T	ENST00000360121.3	+	2	1268	c.1176C>T	c.(1174-1176)ccC>ccT	p.P392P	SPN_ENST00000395389.2_Silent_p.P392P	NM_001030288.2|NM_003123.4	NP_001025459.1|NP_003114.1	P16150	LEUK_HUMAN	sialophorin	392					blood coagulation|cellular defense response|chemotaxis|defense response to bacterium|establishment or maintenance of cell polarity|immune response|leukocyte migration|negative regulation of cell adhesion|positive regulation of tumor necrosis factor biosynthetic process	extracellular space|integral to plasma membrane	bacterial cell surface binding|transmembrane receptor activity			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|stomach(1)	15						CTGATGAGCCCGAAGGGGGAG	0.642													T	29676225	C	T	29676225	2	4	364	1	0	0	0	0	0	0	0	1	15169	639	23	1		1	SPN	16	29676225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1166	29676225	60678528	11565	35067											
KIF22	3835	broad.mit.edu	37	chr16	29810712	29810712	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcggctaaaagagagtggagCcatcaacacctccctgtttg	11	9	10	11	1	1	1	1	0	0	1	3	3	2	2	3	2	2	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29810712C>A	ENST00000561482.1	+	6	1320	c.683C>A	c.(682-684)gCc>gAc	p.A228D	KIF22_ENST00000160827.4_Missense_Mutation_p.A296D|KIF22_ENST00000563263.1_3'UTR|KIF22_ENST00000400751.5_Missense_Mutation_p.A228D|KIF22_ENST00000569382.2_Missense_Mutation_p.A228D|KIF22_ENST00000400750.2_5'UTR	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	296	Kinesin-motor.				blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						GAGAGTGGAGCCATCAACACC	0.557													A	29810712	C	A	29810712	3	1	364	1	0	0	0	0	1	0	0	0	8348	739	26	4	909	4	KIF22	16	29810712	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134487	29810712	60544041	11566	35068											
KIF22	3835	broad.mit.edu	37	chr16	29814854	29814854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaccattgtcccacaatgCtccggcccctttcacatcgc	9	9	6	17	2	1	1	1	0	0	1	4	1	3	1	5	1	2	1	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29814854C>A	ENST00000561482.1	+	10	1967	c.1330C>A	c.(1330-1332)Ctc>Atc	p.L444I	KIF22_ENST00000160827.4_Missense_Mutation_p.L512I|KIF22_ENST00000400751.5_Missense_Mutation_p.L444I|KIF22_ENST00000569382.2_Missense_Mutation_p.L444I|KIF22_ENST00000400750.2_Missense_Mutation_p.L17I	NM_001256270.1	NP_001243199.1	Q14807	KIF22_HUMAN	kinesin family member 22	512				APASASQKLSPLQKLSSMDPAMLERLLSLDRLLASQGSQ -> SSSLCLPETQPPTEAKAAWTRPCGAPPQLGPSACLPGE P (in Ref. 2; BAA33063).	blood coagulation|DNA repair|microtubule-based movement|mitosis	cytosol|kinetochore|microtubule|nucleus	ATP binding|DNA binding|microtubule motor activity|protein binding			endometrium(1)|large_intestine(1)|lung(11)|skin(1)	14						TCCCACAATGCTCCGGCCCCT	0.532													A	29814854	C	A	29814854	3	1	364	1	0	0	0	0	1	0	0	0	8348	797	28	4	1572	4	KIF22	16	29814854	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4142	29814854	60539899	11567	35069											
TAOK2	9344	broad.mit.edu	37	chr16	29989110	29989110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccatgccagctgggggccGggccgggagcctgaaggacc	7	3	17	14	2	0	1	0	1	0	0	0	3	0	3	6	5	3	1	6	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989110G>A	ENST00000308893.4	+	2	1060	c.17G>A	c.(16-18)cGg>cAg	p.R6Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.R6Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R6Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	6					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCTGGGGGCCGGGCCGGGAGC	0.602													A	29989110	G	A	29989110	3	1	364	1	0	0	0	0	1	0	0	0	15645	1116	39	1	19	1	TAOK2	16	29989110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174256	29989110	60365643	11568	35070											
TAOK2	9344	broad.mit.edu	37	chr16	29989643	29989643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaacaccattcagtaccGgggctgttacctgagggagc	9	8	11	13	1	1	1	1	1	0	0	2	2	2	2	4	3	4	3	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29989643G>A	ENST00000308893.4	+	4	1318	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	TAOK2_ENST00000279394.3_Missense_Mutation_p.R92Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R92Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	92	Protein kinase.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						ATTCAGTACCGGGGCTGTTAC	0.547													A	29989643	G	A	29989643	3	1	364	1	0	0	0	0	1	0	0	0	15645	1116	39	1	285	1	TAOK2	16	29989643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	533	29989643	60365110	11569	35071											
TAOK2	9344	broad.mit.edu	37	chr16	29994972	29994972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccactttgccaccatccGaaccgcctccctggtgagtg	8	8	9	16	2	0	2	0	1	0	1	2	3	2	2	7	1	2	0	7	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29994972G>A	ENST00000308893.4	+	13	2452	c.1409G>A	c.(1408-1410)cGa>cAa	p.R470Q	TAOK2_ENST00000416441.2_Missense_Mutation_p.R297Q|TAOK2_ENST00000279394.3_Missense_Mutation_p.R470Q|TAOK2_ENST00000543033.1_Missense_Mutation_p.R470Q	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	470					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCCACCATCCGAACCGCCTCC	0.587													A	29994972	G	A	29994972	3	1	364	1	0	0	0	0	1	0	0	0	15645	1058	37	1	1455	1	TAOK2	16	29994972	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5329	29994972	60359781	11570	35072											
TAOK2	9344	broad.mit.edu	37	chr16	29998656	29998656	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtcttttcctactcctggcCcagggtaccgcactgggggc	5	10	12	14	1	1	0	0	0	1	0	3	0	3	0	4	4	2	2	4	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:29998656C>A	ENST00000308893.4	+	16	4106	c.3063C>A	c.(3061-3063)gcC>gcA	p.A1021A	TAOK2_ENST00000416441.2_Silent_p.A848A|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Silent_p.A908A	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1021	Leu-rich.				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						TACTCCTGGCCCAGGGTACCG	0.677													A	29998656	C	A	29998656	2	1	364	1	0	0	0	0	0	0	0	1	15645	610	22	4		4	TAOK2	16	29998656	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3684	29998656	60356097	11571	35073											
HIRIP3	8479	broad.mit.edu	37	chr16	30004867	30004867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcccgacacttccctaGggaaggggtacctggggcag	8	5	16	12	1	0	0	0	0	0	0	1	2	1	1	3	6	1	2	3	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30004867G>A	ENST00000564026.1	-	5	519	c.482C>T	c.(481-483)cCt>cTt	p.P161L	HIRIP3_ENST00000279392.3_Silent_p.L474L	NM_001197323.1	NP_001184252.1	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	0	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CACTTCCCTAGGGAAGGGGTA	0.632													A	30004867	G	A	30004867	3	1	364	1	0	0	0	0	1	0	0	0	7176	991	35	2	258	2	HIRIP3	16	30004867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6211	30004867	60349886	11572	35074											
HIRIP3	8479	broad.mit.edu	37	chr16	30005816	30005816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactttccttcaggcttttaGttcctttatttccctccacc	5	18	3	15	0	1	0	1	0	0	0	5	0	5	0	5	1	0	2	5	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30005816G>T	ENST00000279392.3	-	4	1480	c.650C>A	c.(649-651)aCt>aAt	p.T217N	HIRIP3_ENST00000564026.1_Intron	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	217	Glu-rich.				chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						CAGGCTTTTAGTTCCTTTATT	0.507													T	30005816	G	T	30005816	3	4	364	1	0	0	0	0	1	0	0	0	7176	1029	36	4	1036	4	HIRIP3	16	30005816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	949	30005816	60348937	11573	35075											
PPP4C	5531	broad.mit.edu	37	chr16	30096138	30096138	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggcacttcaatgagacGgtgctcactgtgtggtcggc	8	10	14	9	2	2	1	2	1	0	1	3	2	2	1	0	4	1	2	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30096138G>A	ENST00000279387.7	+	8	924	c.756G>A	c.(754-756)acG>acA	p.T252T	PPP4C_ENST00000561610.1_Silent_p.T252T	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	252					microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TCAATGAGACGGTGCTCACTG	0.612													A	30096138	G	A	30096138	2	1	364	1	0	0	0	0	0	0	0	1	12484	1103	39	1		1	PPP4C	16	30096138	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90322	30096138	60258615	11574	35076											
TBX6	6911	broad.mit.edu	37	chr16	30097613	30097613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtatggtagagggaaggggCccccttggagaaagtgcggg	9	7	19	6	1	0	2	0	0	0	2	0	4	0	3	2	6	1	2	2	6	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30097613C>T	ENST00000395224.2	-	9	1303	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	TBX6_ENST00000279386.2_Missense_Mutation_p.G415D	NM_004608.3	NP_004599.2	O95947	TBX6_HUMAN	T-box 6	415					anatomical structure morphogenesis|mesoderm development|multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	9						AGGGAAGGGGCCCCCTTGGAG	0.642													T	30097613	C	T	30097613	3	4	364	1	0	0	0	0	1	0	0	0	15762	739	26	2	70	2	TBX6	16	30097613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1475	30097613	60257140	11575	35077											
MAPK3	5595	broad.mit.edu	37	chr16	30128550	30128550	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagactgtaggtagtttcGggccttcatgttgatgatac	9	13	12	7	1	1	3	1	2	0	1	2	4	1	3	1	2	1	4	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30128550G>A	ENST00000484663.1	-	5	1623	c.490C>T	c.(490-492)Cga>Tga	p.R164*	MAPK3_ENST00000395202.1_Intron|MAPK3_ENST00000322266.5_Intron|MAPK3_ENST00000403394.1_Nonsense_Mutation_p.R278*|MAPK3_ENST00000395200.1_Nonsense_Mutation_p.R210*|MAPK3_ENST00000395199.3_Nonsense_Mutation_p.R278*|MAPK3_ENST00000263025.4_Nonsense_Mutation_p.R278*			P27361	MK03_HUMAN	mitogen-activated protein kinase 3	278	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	AGGTAGTTTCGGGCCTTCATG	0.517													A	30128550	G	A	30128550	4	1	364	1	0	0	0	0	0	1	0	0	9354	1124	39	1	376	1	MAPK3	16	30128550	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30937	30128550	60226203	11576	35078											
MAPK3	5595	broad.mit.edu	37	chr16	30134477	30134478	+	Frame_Shift_Ins	INS	-	-	A																															ggacccccgggccgacccccINStcggttctacggggctcccc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30134477_30134478insA	ENST00000403394.1	-	1	152_153	c.53_54insT	c.(52-54)gagfs	p.E18fs	MAPK3_ENST00000263025.4_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000395199.3_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000322266.5_Frame_Shift_Ins_p.E18fs|MAPK3_ENST00000395202.1_Frame_Shift_Ins_p.E18fs	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	18					activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	GGCCGACCCCCTCGGTTCTACG	0.772													A	30134478	-	A	30134477	7	5	364	1	0	1	1	0	0	0	0	0	9354	680	24	0	1174	0	MAPK3	16	30134477	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	5927	30134477	60220276	11577	35079											
CD2BP2	10421	broad.mit.edu	37	chr16	30364965	30364965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcctcctcgggcccccaGacgcctcagtgccccagcca	5	5	9	22	2	1	1	1	0	0	1	4	1	3	1	9	1	2	0	9	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30364965G>A	ENST00000305596.3	-	5	707	c.532C>T	c.(532-534)Ctg>Ttg	p.L178L	CD2BP2_ENST00000569466.1_Silent_p.L178L	NM_006110.2	NP_006101.1	O95400	CD2B2_HUMAN	CD2 (cytoplasmic tail) binding protein 2	178					assembly of spliceosomal tri-snRNP	cytoplasm|nucleoplasm|U5 snRNP	protein binding|ribonucleoprotein binding			breast(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	15						CGGGCCCCCAGACGCCTCAGT	0.647													A	30364965	G	A	30364965	2	1	364	1	0	0	0	0	0	0	0	1	3025	933	33	2		2	CD2BP2	16	30364965	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230488	30364965	59989788	11578	35080											
TBC1D10B	26000	broad.mit.edu	37	chr16	30370615	30370615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctgccgccgcaggtggCgatgcgccagcggggaggcc	4	4	19	14	6	0	0	0	0	0	0	0	2	0	1	4	5	4	2	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30370615C>T	ENST00000409939.3	-	7	1600	c.1520G>A	c.(1519-1521)cGc>cAc	p.R507H		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	507	Rab-GAP TBC.					cytoplasm	Rab GTPase activator activity			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			CCGCAGGTGGCGATGCGCCAG	0.652													T	30370615	C	T	30370615	3	4	364	1	0	0	0	0	1	0	0	0	15696	768	27	1	918	1	TBC1D10B	16	30370615	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5650	30370615	59984138	11579	35081											
ZNF48	197407	broad.mit.edu	37	chr16	30409126	30409126	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagattcctcggtcccggatCcctgctggtgagcgccccac	6	8	11	16	3	0	2	0	1	0	1	4	3	3	3	5	3	2	1	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409126C>A	ENST00000320159.2	+	2	931	c.555C>A	c.(553-555)atC>atA	p.I185I		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						GGTCCCGGATCCCTGCTGGTG	0.607													A	30409126	C	A	30409126	2	1	364	1	0	0	0	0	0	0	0	1	18035	845	30	4		4	ZNF48	16	30409126	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38511	30409126	59945627	11580	35082											
ZNF48	197407	broad.mit.edu	37	chr16	30409537	30409537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgacctggtgaagcacctGcgggtgcacacgggtgagaa	9	6	15	11	3	0	2	0	2	0	1	1	4	1	2	3	3	3	2	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30409537G>A	ENST00000320159.2	+	2	1342	c.966G>A	c.(964-966)ctG>ctA	p.L322L		NM_001214906.1|NM_001214907.1|NM_001214909.1|NM_152652.2	NP_001201835.1|NP_001201836.1|NP_001201838.1|NP_689865.2	Q96MX3	ZNF48_HUMAN	zinc finger protein 48	322					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)|pancreas(1)|skin(1)	21						TGAAGCACCTGCGGGTGCACA	0.632													A	30409537	G	A	30409537	2	1	364	1	0	0	0	0	0	0	0	1	18035	1306	46	2		2	ZNF48	16	30409537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411	30409537	59945216	11581	35083											
ITGAL	3683	broad.mit.edu	37	chr16	30490414	30490414	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctttgctttctttaggcCtgtgaccctgggctgtctcg	2	15	12	12	1	2	1	0	1	2	0	3	1	2	1	3	3	1	2	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30490414C>A	ENST00000356798.6	+	5	510	c.330C>A	c.(328-330)gcC>gcA	p.A110A	ITGAL_ENST00000358164.5_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000454514.2_Silent_p.A110A|RP11-297C4.2_ENST00000569459.1_RNA	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	110					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TTCTTTAGGCCTGTGACCCTG	0.517													A	30490414	C	A	30490414	2	1	364	1	0	0	0	0	0	0	0	1	7944	668	24	4		4	ITGAL	16	30490414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80877	30490414	59864339	11582	35084											
ZNF768	79724	broad.mit.edu	37	chr16	30536215	30536215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgggcatgggggataaGggccgaccgctgggagaagc	8	4	20	9	3	0	1	0	0	0	1	0	4	0	2	2	5	2	3	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30536215G>T	ENST00000380412.5	-	2	1421	c.1246C>A	c.(1246-1248)Ctt>Att	p.L416I	ZNF768_ENST00000562803.1_Missense_Mutation_p.L385I	NM_024671.3	NP_078947.3	Q9H5H4	ZN768_HUMAN	zinc finger protein 768	416					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						TGGGGGATAAGGGCCGACCGC	0.667													T	30536215	G	T	30536215	3	4	364	1	0	0	0	0	1	0	0	0	18241	1000	35	4	380	4	ZNF768	16	30536215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45801	30536215	59818538	11583	35085											
ZNF764	92595	broad.mit.edu	37	chr16	30567320	30567320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccataagggggcccggccGagggggcttggggagacttc	8	5	18	10	2	0	1	0	0	0	1	1	3	0	1	3	7	1	1	3	7	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30567320G>A	ENST00000395091.2	-	3	734	c.419C>T	c.(418-420)tCg>tTg	p.S140L	ZNF764_ENST00000252797.2_Missense_Mutation_p.S141L|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	141					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S141L(1)		kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						GGGCCCGGCCGAGGGGGCTTG	0.677													A	30567320	G	A	30567320	3	1	364	1	0	0	0	0	1	0	0	0	18238	1059	37	1	808	1	ZNF764	16	30567320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31105	30567320	59787433	11584	35086											
ZNF785	146540	broad.mit.edu	37	chr16	30594701	30594701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgacagccacttcatgcGccacctctttttgttttgga	6	15	7	13	1	2	1	1	1	1	0	2	2	2	2	4	1	2	1	4	1	0	6	rs147472796		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30594701G>A	ENST00000395216.2	-	3	557	c.398C>T	c.(397-399)gCg>gTg	p.A133V	ZNF785_ENST00000470110.1_Missense_Mutation_p.A118V|AC002310.7_ENST00000492040.1_RNA	NM_152458.6	NP_689671.2	A8K8V0	ZN785_HUMAN	zinc finger protein 785	133					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	9						CACTTCATGCGCCACCTCTTT	0.527													A	30594701	G	A	30594701	3	1	364	1	0	0	0	0	1	0	0	0	18256	1087	38	1	823	1	ZNF785	16	30594701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27381	30594701	59760052	11585	35087											
PRR14	78994	broad.mit.edu	37	chr16	30665636	30665636	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatctgctctgcctgcaGaccctctggagagcccacca	8	7	9	17	0	3	2	0	0	3	2	3	3	3	2	5	1	5	2	5	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30665636G>T	ENST00000542965.2	+	6	1090	c.634G>T	c.(634-636)Gac>Tac	p.D212Y	PRR14_ENST00000300835.4_Missense_Mutation_p.D212Y			Q9BWN1	PRR14_HUMAN	proline rich 14	212	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TCTGCCTGCAGACCCTCTGGA	0.577													T	30665636	G	T	30665636	3	4	364	1	0	0	0	0	1	0	0	0	12672	942	33	4	656	4	PRR14	16	30665636	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70935	30665636	59689117	11586	35088											
PRR14	78994	broad.mit.edu	37	chr16	30666150	30666150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctggagttgaagatcGccatctcagaggccgagcag	11	7	14	9	2	1	4	1	2	1	2	3	6	1	5	2	2	2	3	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666150G>A	ENST00000542965.2	+	7	1315	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	PRR14_ENST00000300835.4_Missense_Mutation_p.A287T|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	287	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			GTTGAAGATCGCCATCTCAGA	0.637													A	30666150	G	A	30666150	3	1	364	1	0	0	0	0	1	0	0	0	12672	1087	38	1	885	1	PRR14	16	30666150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	514	30666150	59688603	11587	35089											
PRR14	78994	broad.mit.edu	37	chr16	30666273	30666273	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttctccctaagccctctCtgggccgaagctactcctgc	6	10	7	18	1	2	0	0	0	2	0	5	1	3	0	4	1	4	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30666273C>A	ENST00000542965.2	+	7	1438	c.982C>A	c.(982-984)Ctg>Atg	p.L328M	PRR14_ENST00000300835.4_Missense_Mutation_p.L328M|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	328	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TAAGCCCTCTCTGGGCCGAAG	0.687													A	30666273	C	A	30666273	3	1	364	1	0	0	0	0	1	0	0	0	12672	912	32	4	1008	4	PRR14	16	30666273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123	30666273	59688480	11588	35090											
SRCAP	10847	broad.mit.edu	37	chr16	30722093	30722093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agataaagcccccaccctctGctgtcacacagcgcaacaaa	14	5	6	16	1	2	1	1	0	1	1	2	1	2	1	3	0	4	2	3	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30722093G>A	ENST00000262518.4	+	9	1538	c.1153G>A	c.(1153-1155)Gct>Act	p.A385T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A385T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A385T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	385	Glu-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			CCCACCCTCTGCTGTCACACA	0.463													A	30722093	G	A	30722093	3	1	364	1	0	0	0	0	1	0	0	0	15231	1319	46	2	1179	2	SRCAP	16	30722093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55820	30722093	59632660	11589	35091											
SRCAP	10847	broad.mit.edu	37	chr16	30735405	30735405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtcctggtgccagcttcgGctctggccagtccttttccg	2	13	11	15	2	1	0	0	0	1	0	5	0	4	0	5	3	2	2	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30735405G>A	ENST00000262518.4	+	25	5045	c.4660G>A	c.(4660-4662)Gct>Act	p.A1554T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A1396T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1492T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1554	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GCCAGCTTCGGCTCTGGCCAG	0.587													A	30735405	G	A	30735405	3	1	364	1	0	0	0	0	1	0	0	0	15231	1203	42	2	4750	2	SRCAP	16	30735405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13312	30735405	59619348	11590	35092											
C16orf93	90835	broad.mit.edu	37	chr16	30770336	30770336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctccagatcctcacttgGctctggctctggtggggcca	4	11	11	15	0	4	1	1	0	3	1	6	1	5	1	4	5	0	2	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30770336G>A	ENST00000543610.1	-	8	1775	c.814C>T	c.(814-816)Cca>Tca	p.P272S	C16orf93_ENST00000541260.1_Missense_Mutation_p.P337S|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron	NM_001014979.2	NP_001014979.2	A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	272										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						TCCTCACTTGGCTCTGGCTCT	0.517													A	30770336	G	A	30770336	3	1	364	1	0	0	0	0	1	0	0	0	1860	1203	42	2	189	2	C16orf93	16	30770336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34931	30770336	59584417	11591	35093											
RNF40	9810	broad.mit.edu	37	chr16	30776312	30776312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacacccgagagctgggcCgtgagaaccggcgactgcag	10	3	14	14	4	0	2	0	1	0	2	0	5	0	2	3	2	3	2	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30776312C>T	ENST00000324685.6	+	6	1138	c.703C>T	c.(703-705)Cgt>Tgt	p.R235C	RNF40_ENST00000402121.3_Intron|RNF40_ENST00000357890.5_Missense_Mutation_p.R235C|RNF40_ENST00000563683.1_Missense_Mutation_p.R235C	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	235					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			AGAGCTGGGCCGTGAGAACCG	0.647													T	30776312	C	T	30776312	3	4	364	1	0	0	0	0	1	0	0	0	13584	652	23	1	721	1	RNF40	16	30776312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5976	30776312	59578441	11592	35094											
RNF40	9810	broad.mit.edu	37	chr16	30780680	30780680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctgcgggaggagaaGgatgagttgggcgagcaggt	10	6	20	5	2	0	2	0	1	0	1	0	6	0	4	0	5	4	4	0	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30780680G>T	ENST00000324685.6	+	16	2856	c.2421G>T	c.(2419-2421)aaG>aaT	p.K807N	RNF40_ENST00000402121.3_Missense_Mutation_p.K499N|RNF40_ENST00000567365.1_3'UTR|RNF40_ENST00000357890.5_Missense_Mutation_p.K707N|RNF40_ENST00000563683.1_Missense_Mutation_p.K767N	NM_001207033.1|NM_014771.3	NP_001193962.1|NP_055586	O75150	BRE1B_HUMAN	ring finger protein 40, E3 ubiquitin protein ligase	807					histone H2B ubiquitination|histone monoubiquitination|ubiquitin-dependent protein catabolic process	nucleus|synaptosome|ubiquitin ligase complex	protein homodimerization activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)	30			Colorectal(24;0.198)			GGGAGGAGAAGGATGAGTTGG	0.587													T	30780680	G	T	30780680	3	4	364	1	0	0	0	0	1	0	0	0	13584	991	35	4	2479	4	RNF40	16	30780680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4368	30780680	59574073	11593	35095											
ZNF629	23361	broad.mit.edu	37	chr16	30794000	30794000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccgagccccagcaggCtgtcgccctgggccctacgc	4	5	13	19	3	0	0	0	0	0	0	2	1	1	0	6	3	3	2	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794000C>T	ENST00000262525.4	-	3	1856	c.1649G>A	c.(1648-1650)aGc>aAc	p.S550N		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CCCCAGCAGGCTGTCGCCCTG	0.692													T	30794000	C	T	30794000	3	4	364	1	0	0	0	0	1	0	0	0	18154	797	28	2	964	2	ZNF629	16	30794000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13320	30794000	59560753	11594	35096											
ZNF629	23361	broad.mit.edu	37	chr16	30794144	30794144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgcgtgcggacgtgggtaAtaaggttggagctctggctg	6	11	18	6	3	1	0	0	0	1	0	1	2	1	2	0	5	3	4	0	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30794144A>G	ENST00000262525.4	-	3	1712	c.1505T>C	c.(1504-1506)aTt>aCt	p.I502T		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GACGTGGGTAATAAGGTTGGA	0.637													G	30794144	A	G	30794144	3	3	364	1	0	0	0	0	1	0	0	0	18154	101	4	3	1108	3	ZNF629	16	30794144	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	144	30794144	59560609	11595	35097											
CTF1	1489	broad.mit.edu	37	chr16	30910766	30910766	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgattcctcagtctcacTtcttccccacttggaggcca	7	12	7	15	0	3	1	2	1	2	0	6	3	5	2	4	2	0	0	4	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30910766T>G	ENST00000279804.2	+	2	93	c.56T>G	c.(55-57)cTt>cGt	p.L19R	CTF1_ENST00000395019.3_Missense_Mutation_p.L18R	NM_001142544.1|NM_001330.3	NP_001136016.1|NP_001321.1	Q16619	CTF1_HUMAN	cardiotrophin 1	19					cell proliferation|cell-cell signaling|muscle organ development|positive regulation of cell proliferation	extracellular space	cytokine activity|leukemia inhibitory factor receptor binding			large_intestine(1)|urinary_tract(1)	2			Colorectal(24;0.198)			TCAGTCTCACTTCTTCCCCAC	0.562													G	30910766	T	G	30910766	3	3	364	1	0	0	0	0	1	0	0	0	4040	1609	56	5	62	5	CTF1	16	30910766	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116622	30910766	59443987	11596	35098											
FBXL19	54620	broad.mit.edu	37	chr16	30939842	30939842	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggagacgcctgcctcCtccgaggatcggacccaggc	6	6	15	14	3	0	1	0	0	0	1	3	5	2	3	5	5	1	0	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30939842C>A	ENST00000338343.4	+	6	1069	c.682C>A	c.(682-684)Ctc>Atc	p.L228I	FBXL19_ENST00000562319.1_Missense_Mutation_p.L228I|FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000380310.2_Missense_Mutation_p.L248I|FBXL19_ENST00000471231.2_5'UTR			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	248	Pro-rich.						DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						CGCCTGCCTCCTCCGAGGATC	0.642													A	30939842	C	A	30939842	3	1	364	1	0	0	0	0	1	0	0	0	5764	681	24	4	764	4	FBXL19	16	30939842	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29076	30939842	59414911	11597	35099											
SETD1A	9739	broad.mit.edu	37	chr16	30976233	30976233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgccgggccacacgggaGgaaccccctggagccccttt	7	4	12	18	3	0	0	0	0	0	0	0	3	0	3	7	4	2	0	7	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30976233G>T	ENST00000262519.8	+	7	1856	c.1170G>T	c.(1168-1170)gaG>gaT	p.E390D		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	390	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						CCACACGGGAGGAACCCCCTG	0.592													T	30976233	G	T	30976233	3	4	364	1	0	0	0	0	1	0	0	0	14223	991	35	4	1192	4	SETD1A	16	30976233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36391	30976233	59378520	11598	35100											
SETD1A	9739	broad.mit.edu	37	chr16	30977389	30977389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcagcctacggcttgccGtatgctctatatgcacaggg	8	9	13	11	2	1	0	0	0	1	0	1	1	1	0	2	3	5	5	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:30977389G>A	ENST00000262519.8	+	8	2873	c.2187G>A	c.(2185-2187)ccG>ccA	p.P729P		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	729					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACGGCTTGCCGTATGCTCTAT	0.672													A	30977389	G	A	30977389	2	1	364	1	0	0	0	0	0	0	0	1	14223	1132	40	1		1	SETD1A	16	30977389	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1156	30977389	59377364	11599	35101											
STX4	6810	broad.mit.edu	37	chr16	31049324	31049324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgaataccgggagaagaaCgtggagcggattcggaggca	12	5	16	8	5	0	2	0	0	0	2	2	7	1	5	2	5	3	1	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31049324C>T	ENST00000394998.1	+	7	793	c.450C>T	c.(448-450)aaC>aaT	p.N150N	STX4_ENST00000493902.1_3'UTR|STX4_ENST00000313843.3_Silent_p.N152N	NM_001272096.1	NP_001259025.1	Q12846	STX4_HUMAN	syntaxin 4	152					intracellular protein transport|platelet activation|post-Golgi vesicle-mediated transport	basolateral plasma membrane|cell surface|cytosol|integral to membrane|plasma membrane enriched fraction|specific granule|vacuole	SNAP receptor activity			NS(2)|breast(1)|large_intestine(3)|lung(3)	9						GGGAGAAGAACGTGGAGCGGA	0.547													T	31049324	C	T	31049324	2	4	364	1	0	0	0	0	0	0	0	1	15443	535	19	1		1	STX4	16	31049324	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71935	31049324	59305429	11600	35102											
ZNF668	79759	broad.mit.edu	37	chr16	31072886	31072886	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctagcagccctgctggagGgtcccccagccccgcccctg	4	5	11	21	1	0	0	0	0	0	0	1	1	1	1	8	2	4	2	8	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31072886G>T	ENST00000538906.1	-	3	2147	c.1363C>A	c.(1363-1365)Cct>Act	p.P455T	ZNF668_ENST00000394983.2_Missense_Mutation_p.P455T|ZNF668_ENST00000300849.4_Missense_Mutation_p.P455T|ZNF668_ENST00000535577.1_Missense_Mutation_p.P455T|ZNF668_ENST00000539836.3_Missense_Mutation_p.P478T|ZNF668_ENST00000426488.2_Missense_Mutation_p.P478T|ZNF668_ENST00000417110.2_Missense_Mutation_p.G25V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	455					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCTGCTGGAGGGTCCCCCAGC	0.692													T	31072886	G	T	31072886	3	4	364	1	0	0	0	0	1	0	0	0	18176	1232	43	4	500	4	ZNF668	16	31072886	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23562	31072886	59281867	11601	35103											
ZNF668	79759	broad.mit.edu	37	chr16	31075731	31075731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttgtagcggcggcccgagCgcttgtagccgggggctggg	4	7	19	11	5	0	0	0	0	0	0	0	1	0	0	2	5	3	4	2	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075731C>T	ENST00000538906.1	-	2	834	c.50G>A	c.(49-51)cGc>cAc	p.R17H	ZNF668_ENST00000394983.2_Missense_Mutation_p.R17H|ZNF668_ENST00000300849.4_Missense_Mutation_p.R17H|ZNF668_ENST00000535577.1_Missense_Mutation_p.R17H|ZNF668_ENST00000539836.3_Missense_Mutation_p.R40H|ZNF668_ENST00000426488.2_Missense_Mutation_p.R40H	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						GCGGCCCGAGCGCTTGTAGCC	0.632													T	31075731	C	T	31075731	3	4	364	1	0	0	0	0	1	0	0	0	18176	768	27	1	1817	1	ZNF668	16	31075731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2845	31075731	59279022	11602	35104											
ZNF668	79759	broad.mit.edu	37	chr16	31075764	31075764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctggggaccgggcctctGcagcctccacttccatggcc	4	7	14	16	1	1	0	0	0	1	0	3	1	3	1	6	5	2	2	6	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31075764G>A	ENST00000538906.1	-	2	801	c.17C>T	c.(16-18)gCa>gTa	p.A6V	ZNF668_ENST00000394983.2_Missense_Mutation_p.A6V|ZNF668_ENST00000300849.4_Missense_Mutation_p.A6V|ZNF668_ENST00000535577.1_Missense_Mutation_p.A6V|ZNF668_ENST00000539836.3_Missense_Mutation_p.A29V|ZNF668_ENST00000426488.2_Missense_Mutation_p.A29V	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	6					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						CCGGGCCTCTGCAGCCTCCAC	0.612													A	31075764	G	A	31075764	3	1	364	1	0	0	0	0	1	0	0	0	18176	1319	46	2	1850	2	ZNF668	16	31075764	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33	31075764	59278989	11603	35105											
ZNF646	9726	broad.mit.edu	37	chr16	31089168	31089168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaatctcatggccctgcGcaaccacgtgcgggtacatt	8	8	9	16	3	1	0	1	0	1	0	2	0	1	0	4	2	4	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089168G>A	ENST00000394979.2	+	1	1946	c.1523G>A	c.(1522-1524)cGc>cAc	p.R508H	ZNF646_ENST00000300850.5_Missense_Mutation_p.R508H			O15015	ZN646_HUMAN	zinc finger protein 646	508					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGGCCCTGCGCAACCACGTG	0.642													A	31089168	G	A	31089168	3	1	364	1	0	0	0	0	1	0	0	0	18163	1087	38	1	1525	1	ZNF646	16	31089168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13404	31089168	59265585	11604	35106											
ZNF646	9726	broad.mit.edu	37	chr16	31089462	31089462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggaaaaggaaaatagcaGaacagagaccacaatgtcac	20	3	11	7	0	1	2	1	0	0	2	1	5	1	4	1	3	2	1	1	3	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31089462G>A	ENST00000394979.2	+	1	2240	c.1817G>A	c.(1816-1818)aGa>aAa	p.R606K	ZNF646_ENST00000300850.5_Missense_Mutation_p.R606K			O15015	ZN646_HUMAN	zinc finger protein 646	606					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						GAAAATAGCAGAACAGAGACC	0.542													A	31089462	G	A	31089462	3	1	364	1	0	0	0	0	1	0	0	0	18163	942	33	2	1819	2	ZNF646	16	31089462	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294	31089462	59265291	11605	35107											
ZNF646	9726	broad.mit.edu	37	chr16	31090101	31090101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cactggctggcaggctggggCcgctcacacatgctctgact	6	8	13	14	1	2	1	1	1	1	0	2	1	2	1	1	5	1	5	1	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31090101C>T	ENST00000394979.2	+	1	2879	c.2456C>T	c.(2455-2457)gCc>gTc	p.A819V	ZNF646_ENST00000300850.5_Missense_Mutation_p.A819V			O15015	ZN646_HUMAN	zinc finger protein 646	819					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						CAGGCTGGGGCCGCTCACACA	0.617													T	31090101	C	T	31090101	3	4	364	1	0	0	0	0	1	0	0	0	18163	739	26	2	2458	2	ZNF646	16	31090101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	639	31090101	59264652	11606	35108											
BCKDK	10295	broad.mit.edu	37	chr16	31122664	31122664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactccctacaatgtcccaGatgtggtcatcaccatcgcc	10	9	6	16	1	2	1	2	0	0	1	5	1	4	1	4	1	1	0	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31122664G>T	ENST00000394951.1	+	11	1512	c.889G>T	c.(889-891)Gat>Tat	p.D297Y	BCKDK_ENST00000219794.6_Missense_Mutation_p.D297Y|BCKDK_ENST00000394950.3_Missense_Mutation_p.D297Y|BCKDK_ENST00000287507.3_Intron			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	297	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAATGTCCCAGATGTGGTCAT	0.547													T	31122664	G	T	31122664	3	4	364	1	0	0	0	0	1	0	0	0	1366	942	33	4	923	4	BCKDK	16	31122664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32563	31122664	59232089	11607	35109											
BCKDK	10295	broad.mit.edu	37	chr16	31123215	31123215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaccgtggtggaggaatcGctcacaaagatctggaccgg	11	6	14	10	3	2	2	1	0	1	2	3	5	2	5	2	5	0	1	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31123215G>A	ENST00000394951.1	+	12	1584	c.961G>A	c.(961-963)Gct>Act	p.A321T	BCKDK_ENST00000219794.6_Missense_Mutation_p.A321T|BCKDK_ENST00000394950.3_Missense_Mutation_p.A321T|BCKDK_ENST00000287507.3_Missense_Mutation_p.A291T			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	321	Histidine kinase.				branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						TGGAGGAATCGCTCACAAAGA	0.567													A	31123215	G	A	31123215	3	1	364	1	0	0	0	0	1	0	0	0	1366	1087	38	1	999	1	BCKDK	16	31123215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551	31123215	59231538	11608	35110											
FUS	2521	broad.mit.edu	37	chr16	31199645	31199645	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttttccatgtcactaaaGgccctcgggaccaaggatca	10	12	8	11	1	2	0	2	0	0	0	4	2	3	2	3	3	0	0	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31199645G>T	ENST00000254108.7	+	8	904		c.e8-1		FUS_ENST00000474990.1_Splice_Site|FUS_ENST00000568685.1_Splice_Site|FUS_ENST00000380244.3_Splice_Site	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma						cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		TGTCACTAAAGGCCCTCGGGA	0.418			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								T	31199645	G	T	31199645	5	4	364	1	0	0	0	0	0	0	1	0	6152	1014	35	4	829	4	FUS	16	31199645	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76430	31199645	59155108	11609	35111											
PYCARD	29108	broad.mit.edu	37	chr16	31213042	31213042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcttgggttggtgggctcgGcccgcactgcctggtactgc	2	11	16	12	2	0	0	0	0	0	0	1	0	0	0	2	5	4	5	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213042G>A	ENST00000247470.9	-	3	753	c.452C>T	c.(451-453)gCc>gTc	p.A151V	PYCARD_ENST00000350605.4_Missense_Mutation_p.A132V	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	151	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						GGTGGGCTCGGCCCGCACTGC	0.607													A	31213042	G	A	31213042	3	1	364	1	0	0	0	0	1	0	0	0	12942	1203	42	2	139	2	PYCARD	16	31213042	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13397	31213042	59141711	11610	35112											
PYCARD	29108	broad.mit.edu	37	chr16	31213521	31213521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcccagctggcgcggctccaGagcctggaaggatatgggcc	7	6	15	13	2	0	1	0	0	0	1	2	3	2	3	4	5	2	2	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31213521G>A	ENST00000247470.9	-	2	579	c.278C>T	c.(277-279)tCt>tTt	p.S93F	C16orf98_ENST00000561916.2_Intron|PYCARD_ENST00000350605.4_Intron	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	93					induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						CGCGGCTCCAGAGCCTGGAAG	0.697													A	31213521	G	A	31213521	3	1	364	1	0	0	0	0	1	0	0	0	12942	942	33	2	317	2	PYCARD	16	31213521	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479	31213521	59141232	11611	35113											
ITGAM	3684	broad.mit.edu	37	chr16	31332801	31332801	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtcccagccagtactgAgagtcaaggcaatcatggag	12	8	12	9	0	2	1	2	1	0	1	3	3	3	2	2	3	2	2	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31332801A>G	ENST00000544665.3	+	16	1929	c.1858A>G	c.(1858-1860)Aga>Gga	p.R620G	ITGAM_ENST00000287497.8_Missense_Mutation_p.R619G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	619					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						GCCAGTACTGAGAGTCAAGGC	0.493													G	31332801	A	G	31332801	3	3	364	1	0	0	0	0	1	0	0	0	7945	296	11	3	1920	3	ITGAM	16	31332801	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	119280	31332801	59021952	11612	35114											
ITGAX	3687	broad.mit.edu	37	chr16	31367254	31367254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacttggacacagaggaGctgacagccttccgtgtgga	10	9	12	10	1	1	2	1	1	0	1	2	5	2	5	2	3	3	1	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31367254G>A	ENST00000268296.4	+	2	199	c.78G>A	c.(76-78)gaG>gaA	p.E26E	ITGAX_ENST00000562522.1_Silent_p.E26E|ITGAX_ENST00000562918.1_3'UTR	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	26					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACACAGAGGAGCTGACAGCCT	0.577													A	31367254	G	A	31367254	2	1	364	1	0	0	0	0	0	0	0	1	7947	962	34	2		2	ITGAX	16	31367254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34453	31367254	58987499	11613	35115											
ARMC5	79798	broad.mit.edu	37	chr16	31473784	31473784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaccattctgatcctcGccaacctgtgtgcccagggc	8	8	11	14	1	1	1	0	1	1	0	3	2	2	2	5	2	3	0	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31473784G>A	ENST00000457010.2	+	3	1617	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	ARMC5_ENST00000538189.1_Missense_Mutation_p.A338T|ARMC5_ENST00000412665.2_Intron|ARMC5_ENST00000268314.4_Missense_Mutation_p.A306T|ARMC5_ENST00000408912.3_Missense_Mutation_p.A401T|ARMC5_ENST00000563544.1_Missense_Mutation_p.A306T	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	306							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						TCTGATCCTCGCCAACCTGTG	0.642													A	31473784	G	A	31473784	3	1	364	1	0	0	0	0	1	0	0	0	959	1087	38	1	926	1	ARMC5	16	31473784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106530	31473784	58880969	11614	35116											
TGFB1I1	7041	broad.mit.edu	37	chr16	31487396	31487396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcggaggctgttccaccGccctgggaggcagcagcttc	5	9	14	13	2	0	0	0	0	0	0	2	2	1	2	3	4	3	5	3	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31487396G>A	ENST00000394863.3	+	8	908	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	TGFB1I1_ENST00000394858.2_Missense_Mutation_p.A243T|TGFB1I1_ENST00000361773.3_Missense_Mutation_p.A243T|TGFB1I1_ENST00000567607.1_Missense_Mutation_p.A243T	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	260	LIM zinc-binding 1.				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding			lung(8)|upper_aerodigestive_tract(1)	9						CTGTTCCACCGCCCTGGGAGG	0.657													A	31487396	G	A	31487396	3	1	364	1	0	0	0	0	1	0	0	0	15917	1087	38	1	808	1	TGFB1I1	16	31487396	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13612	31487396	58867357	11615	35117											
AHSP	51327	broad.mit.edu	37	chr16	31539887	31539887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtgacaggggagccccaaGagcgagacaaggctctgcag	12	3	16	10	1	1	3	0	1	1	2	1	5	1	4	2	4	3	2	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:31539887G>A	ENST00000302312.4	+	3	287	c.184G>A	c.(184-186)Gag>Aag	p.E62K	AHSP_ENST00000569954.1_3'UTR	NM_016633.2	NP_057717.1	Q9NZD4	AHSP_HUMAN	alpha hemoglobin stabilizing protein	62					hemoglobin metabolic process|hemopoiesis|protein folding|protein stabilization	hemoglobin complex	hemoglobin binding|unfolded protein binding			lung(2)	2						GGAGCCCCAAGAGCGAGACAA	0.542													A	31539887	G	A	31539887	3	1	364	1	0	0	0	0	1	0	0	0	421	943	33	2	190	2	AHSP	16	31539887	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52491	31539887	58814866	11616	35118											
MYLK3	91807	broad.mit.edu	37	chr16	46744668	46744668	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcatggtctctgcatcTgtttcccctagaaatgggga	10	13	9	9	0	3	1	1	0	2	1	5	2	4	2	2	3	1	2	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46744668T>G	ENST00000394809.4	-	11	2263	c.2148A>C	c.(2146-2148)acA>acC	p.T716T	MYLK3_ENST00000536476.1_Silent_p.T375T|MYLK3_ENST00000562104.1_5'UTR	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				TCTCTGCATCTGTTTCCCCTA	0.478													G	46744668	T	G	46744668	2	3	364	1	0	0	0	0	0	0	0	1	10134	1567	55	5		5	MYLK3	16	46744668	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15204781	46744668	43610085	11617	35119											
MYLK3	91807	broad.mit.edu	37	chr16	46771675	46771675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcctgggctggcagccCtggaggccctgggcactgag	4	6	17	14	0	0	1	0	1	0	0	0	2	0	2	4	6	1	3	4	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771675C>A	ENST00000394809.4	-	3	1064	c.949G>T	c.(949-951)Ggg>Tgg	p.G317W	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	317					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GCTGGCAGCCCTGGAGGCCCT	0.657													A	46771675	C	A	46771675	3	1	364	1	0	0	0	0	1	0	0	0	10134	681	24	4	1554	4	MYLK3	16	46771675	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27007	46771675	43583078	11618	35120											
MYLK3	91807	broad.mit.edu	37	chr16	46771765	46771765	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgctggacgatgctcCttgtcctgcacctggtgcaa	6	10	12	13	1	0	0	0	0	0	0	2	2	2	1	4	3	4	4	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46771765C>A	ENST00000394809.4	-	3	974	c.859G>T	c.(859-861)Gga>Tga	p.G287*	MYLK3_ENST00000536476.1_Intron	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	287					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				GACGATGCTCCTTGTCCTGCA	0.662													A	46771765	C	A	46771765	4	1	364	1	0	0	0	0	0	1	0	0	10134	690	24	4	1644	4	MYLK3	16	46771765	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	46771765	43582988	11619	35121											
C16orf87	388272	broad.mit.edu	37	chr16	46836914	46836914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatttatttctgccaaggCgactgaaaacacgaaagcct	13	11	7	10	2	2	1	0	1	2	0	2	3	2	1	2	1	3	0	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:46836914C>T	ENST00000394806.2	-	3	244	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	C16orf87_ENST00000564250.1_Intron|C16orf87_ENST00000285697.4_Missense_Mutation_p.A139T			Q6PH81	CP087_HUMAN	chromosome 16 open reading frame 87	139										large_intestine(4)|urinary_tract(1)	5						TCTGCCAAGGCGACTGAAAAC	0.328													T	46836914	C	T	46836914	3	4	364	1	0	0	0	0	1	0	0	0	1854	768	27	1	53	1	C16orf87	16	46836914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65149	46836914	43517839	11620	35122											
ITFG1	81533	broad.mit.edu	37	chr16	47271908	47271908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagtcattagaacacaGaccactaagaactgtggaaa	18	6	9	8	0	1	3	1	0	0	3	1	5	1	5	1	2	2	0	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:47271908G>T	ENST00000320640.6	-	13	1570	c.1342C>A	c.(1342-1344)Ctg>Atg	p.L448M	ITFG1_ENST00000568047.1_5'UTR|ITFG1_ENST00000544001.2_Missense_Mutation_p.L335M	NM_030790.3	NP_110417.2	Q8TB96	TIP_HUMAN	integrin alpha FG-GAP repeat containing 1	448						extracellular region|integral to membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	19		all_cancers(37;0.0613)|all_lung(18;0.0543)|Lung NSC(13;0.227)				TTAGAACACAGACCACTAAGA	0.274													T	47271908	G	T	47271908	3	4	364	1	0	0	0	0	1	0	0	0	7927	933	33	4	520	4	ITFG1	16	47271908	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	434994	47271908	43082845	11621	35123											
ABCC12	94160	broad.mit.edu	37	chr16	48120658	48120658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagagacctactgtgtcTctcatgaatgttctctccag	8	12	7	14	0	3	2	1	1	2	1	6	3	4	2	4	0	1	1	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120658T>C	ENST00000311303.3	-	26	4053	c.3708A>G	c.(3706-3708)agA>agG	p.R1236R	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1236	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTACTGTGTCTCTCATGAATG	0.507													C	48120658	T	C	48120658	2	2	364	1	0	0	0	0	0	0	0	1	52	1548	54	3		3	ABCC12	16	48120658	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	848750	48120658	42234095	11622	35124											
ABCC12	94160	broad.mit.edu	37	chr16	48120675	48120675	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctctcatgaatgttctctCcagaacctgccagagcatct	9	12	7	13	0	4	3	1	1	3	2	7	3	5	3	3	0	3	2	3	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48120675C>A	ENST00000311303.3	-	26	4036	c.3691G>T	c.(3691-3693)Gag>Tag	p.E1231*	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1231	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				AATGTTCTCTCCAGAACCTGC	0.498													A	48120675	C	A	48120675	4	1	364	1	0	0	0	0	0	1	0	0	52	864	30	4	404	4	ABCC12	16	48120675	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	48120675	42234078	11623	35125											
ABCC12	94160	broad.mit.edu	37	chr16	48130758	48130758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtaaggatgttcatgaGgacatccattctcagcgcaa	13	9	11	8	1	2	1	2	1	1	0	4	4	3	3	1	3	1	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48130758G>A	ENST00000311303.3	-	22	3439	c.3094C>T	c.(3094-3096)Ctc>Ttc	p.L1032F	ABCC12_ENST00000448542.1_3'UTR|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1032	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATGTTCATGAGGACATCCATT	0.458													A	48130758	G	A	48130758	3	1	364	1	0	0	0	0	1	0	0	0	52	1000	35	2	1017	2	ABCC12	16	48130758	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10083	48130758	42223995	11624	35126											
ABCC12	94160	broad.mit.edu	37	chr16	48141301	48141301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgccaatcatcaggaGgaagaggaacacagtgaaga	16	4	13	8	1	2	3	2	1	0	2	2	6	2	6	1	3	3	1	1	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48141301G>A	ENST00000311303.3	-	18	2752	c.2407C>T	c.(2407-2409)Ctc>Ttc	p.L803F	ABCC12_ENST00000448542.1_Missense_Mutation_p.L800F|ABCC12_ENST00000416054.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	803	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATCATCAGGAGGAAGAGGAAC	0.582													A	48141301	G	A	48141301	3	1	364	1	0	0	0	0	1	0	0	0	52	1000	35	2	1720	2	ABCC12	16	48141301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10543	48141301	42213452	11625	35127											
ABCC11	85320	broad.mit.edu	37	chr16	48218469	48218469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgatctccagcctcaatGccatccatcgtgtggaagat	10	11	8	12	1	3	2	2	1	1	1	6	3	4	3	4	1	2	0	4	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48218469G>A	ENST00000394747.1	-	22	3489	c.3140C>T	c.(3139-3141)gCa>gTa	p.A1047V	ABCC11_ENST00000356608.2_Missense_Mutation_p.A1047V|ABCC11_ENST00000353782.5_Missense_Mutation_p.A1047V|ABCC11_ENST00000394748.1_Missense_Mutation_p.A1047V|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1047	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CAGCCTCAATGCCATCCATCG	0.483													A	48218469	G	A	48218469	3	1	364	1	0	0	0	0	1	0	0	0	51	1319	46	2	1040	2	ABCC11	16	48218469	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77168	48218469	42136284	11626	35128											
ABCC11	85320	broad.mit.edu	37	chr16	48258282	48258282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacctcagcatcaccagaaGcactgaagctttttcaatcc	13	9	6	13	0	3	2	3	1	0	1	4	3	4	2	3	0	4	3	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48258282G>A	ENST00000394747.1	-	4	803	c.454C>T	c.(454-456)Ctt>Ttt	p.L152F	ABCC11_ENST00000356608.2_Missense_Mutation_p.L152F|ABCC11_ENST00000353782.5_Missense_Mutation_p.L152F|ABCC11_ENST00000537808.1_Missense_Mutation_p.L152F|ABCC11_ENST00000394748.1_Missense_Mutation_p.L152F	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	152						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATCACCAGAAGCACTGAAGCT	0.488													A	48258282	G	A	48258282	3	1	364	1	0	0	0	0	1	0	0	0	51	971	34	2	3798	2	ABCC11	16	48258282	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39813	48258282	42096471	11627	35129											
SIAH1	6477	broad.mit.edu	37	chr16	48396193	48396193	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacattgaagaatgggcggTaacacatagtcaaagcagac	16	7	11	7	1	1	4	1	2	0	2	1	4	1	4	0	2	2	2	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48396193T>C	ENST00000380006.2	-	1	1600	c.147A>G	c.(145-147)ttA>ttG	p.L49L	SIAH1_ENST00000394725.2_Silent_p.L49L|SIAH1_ENST00000356721.3_Silent_p.L80L			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	49					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				GAATGGGCGGTAACACATAGT	0.522													C	48396193	T	C	48396193	2	2	364	1	0	0	0	0	0	0	0	1	14393	1635	57	3		3	SIAH1	16	48396193	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	137911	48396193	41958560	11628	35130											
N4BP1	9683	broad.mit.edu	37	chr16	48594665	48594665	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcagagaatggacttacGtaattgcaacattgctccca	12	11	8	10	1	1	1	0	0	1	1	2	3	2	2	1	1	5	4	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48594665G>A	ENST00000262384.3	-	2	2125	c.1889C>T	c.(1888-1890)aCc>aTc	p.T630I	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	630					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				ATGGACTTACGTAATTGCAAC	0.343													A	48594665	G	A	48594665	5	1	364	1	0	0	0	0	0	0	1	0	10185	1159	40	1	825	1	N4BP1	16	48594665	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	198472	48594665	41760088	11629	35131											
N4BP1	9683	broad.mit.edu	37	chr16	48596022	48596022	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttcaaggaagtgggcaAaatcaacaaatccattgtgt	14	13	8	6	0	2	0	2	0	0	0	3	1	3	1	1	2	1	1	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596022A>G	ENST00000262384.3	-	2	768	c.532T>C	c.(532-534)Ttg>Ctg	p.L178L	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	178					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				GAAGTGGGCAAAATCAACAAA	0.383													G	48596022	A	G	48596022	2	3	364	1	0	0	0	0	0	0	0	1	10185	11	1	3		3	N4BP1	16	48596022	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1357	48596022	41758731	11630	35132											
N4BP1	9683	broad.mit.edu	37	chr16	48596356	48596356	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagattcctttaatatattcCtgtaaagagaaaataagaaa	19	12	5	5	0	0	3	0	0	0	3	2	4	2	3	2	0	0	1	2	0	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:48596356C>A	ENST00000262384.3	-	2	435		c.e2-1		RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1						negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TAATATATTCCTGTAAAGAGA	0.338													A	48596356	C	A	48596356	5	1	364	1	0	0	0	0	0	0	1	0	10185	695	24	4	2516	4	N4BP1	16	48596356	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	334	48596356	41758397	11631	35133											
ZNF423	23090	broad.mit.edu	37	chr16	49559304	49559304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggggcatttgaaggtgcCgcccatgccctcgaagctgt	7	8	13	13	3	0	1	0	1	0	0	1	2	0	1	3	3	3	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:49559304C>T	ENST00000561648.1	-	6	3732	c.3679G>A	c.(3679-3681)Ggc>Agc	p.G1227S	ZNF423_ENST00000535559.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000262383.2_Missense_Mutation_p.G1227S|ZNF423_ENST00000562520.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000567169.1_Missense_Mutation_p.G1110S|ZNF423_ENST00000562871.1_Missense_Mutation_p.G1167S|ZNF423_ENST00000563137.2_Missense_Mutation_p.G1167S	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1227					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGAAGGTGCCGCCCATGCCC	0.577													T	49559304	C	T	49559304	3	4	364	1	0	0	0	0	1	0	0	0	17999	652	23	1	187	1	ZNF423	16	49559304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	962948	49559304	40795449	11632	35134											
HEATR3	55027	broad.mit.edu	37	chr16	50112928	50112928	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcgtttcagatttacttcCggtaagtcaggttgctgttc	6	18	9	8	2	2	1	2	0	0	1	5	1	3	1	1	2	2	5	1	2	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50112928C>T	ENST00000299192.7	+	7	1231	c.1040C>T	c.(1039-1041)cCg>cTg	p.P347L	HEATR3_ENST00000285767.4_Splice_Site_p.P261L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	347							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GATTTACTTCCGGTAAGTCAG	0.343													T	50112928	C	T	50112928	5	4	364	1	0	0	0	0	0	0	1	0	7084	666	23	1	1066	1	HEATR3	16	50112928	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	553624	50112928	40241825	11633	35135											
PAPD5	64282	broad.mit.edu	37	chr16	50245298	50245298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacctgaggaggagaagatgCggatggaggtggtgaacagg	12	5	20	4	1	0	4	0	2	0	2	0	9	0	7	1	7	2	0	1	7	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50245298C>T	ENST00000357464.3	+	3	421	c.421C>T	c.(421-423)Cgg>Tgg	p.R141W	PAPD5_ENST00000561678.1_Missense_Mutation_p.R153W|PAPD5_ENST00000436909.3_Missense_Mutation_p.R220W			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	141					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		GGAGAAGATGCGGATGGAGGT	0.458													T	50245298	C	T	50245298	3	4	364	1	0	0	0	0	1	0	0	0	11501	759	27	1	668	1	PAPD5	16	50245298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132370	50245298	40109455	11634	35136											
PAPD5	64282	broad.mit.edu	37	chr16	50250053	50250053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggactctggaagaagctcttCggaaacacaaagtcgcagat	14	7	11	9	2	2	2	0	0	2	2	4	5	2	5	0	3	2	2	0	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50250053C>T	ENST00000357464.3	+	5	595	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	PAPD5_ENST00000561678.1_Missense_Mutation_p.R211W|PAPD5_ENST00000436909.3_Missense_Mutation_p.R278W|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	199					cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		AGAAGCTCTTCGGAAACACAA	0.423													T	50250053	C	T	50250053	3	4	364	1	0	0	0	0	1	0	0	0	11501	875	31	1	850	1	PAPD5	16	50250053	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4755	50250053	40104700	11635	35137											
PAPD5	64282	broad.mit.edu	37	chr16	50257163	50257163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttttgaattatatggaCgacacttcaattatttaaag	15	17	5	4	1	1	1	1	1	0	0	1	3	1	2	0	1	0	0	0	1	8	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50257163C>T	ENST00000357464.3	+	8	964	c.964C>T	c.(964-966)Cga>Tga	p.R322*	PAPD5_ENST00000561678.1_Nonsense_Mutation_p.R291*|PAPD5_ENST00000436909.3_Nonsense_Mutation_p.R401*|PAPD5_ENST00000573002.1_3'UTR			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	322	PAP-associated.				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		ATTATATGGACGACACTTCAA	0.373													T	50257163	C	T	50257163	4	4	364	1	0	0	0	0	0	1	0	0	11501	528	19	1	1231	1	PAPD5	16	50257163	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7110	50257163	40097590	11636	35138											
SNX20	124460	broad.mit.edu	37	chr16	50707891	50707891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgaacgtcttcagcagcGctttctggagcttcgcgaag	7	10	11	13	4	3	1	1	1	2	0	4	3	3	2	1	1	4	3	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50707891G>A	ENST00000330943.4	-	4	548	c.377C>T	c.(376-378)gCg>gTg	p.A126V	SNX20_ENST00000300590.3_Intron|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	126	PX.				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CTTCAGCAGCGCTTTCTGGAG	0.562													A	50707891	G	A	50707891	3	1	364	1	0	0	0	0	1	0	0	0	14986	1087	38	1	720	1	SNX20	16	50707891	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	450728	50707891	39646862	11637	35139											
NOD2	64127	broad.mit.edu	37	chr16	50750562	50750562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaatgtgctcttcactgcGagcaattgcagaagttagcg	10	12	11	8	2	2	2	1	1	1	1	2	3	2	2	0	0	5	4	0	0	4	4	rs104895445		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750562G>A	ENST00000300589.2	+	5	2632	c.2527G>A	c.(2527-2529)Gag>Aag	p.E843K		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	843			E -> K (associated with Crohn disease).		activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				TCTTCACTGCGAGCAATTGCA	0.493													A	50750562	G	A	50750562	3	1	364	1	0	0	0	0	1	0	0	0	10593	1059	37	1	2545	1	NOD2	16	50750562	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42671	50750562	39604191	11638	35140											
NOD2	64127	broad.mit.edu	37	chr16	50750880	50750880	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcagaacttcttggcAttgaggtgagcccaggtttt	8	12	13	8	0	1	3	0	2	1	1	1	3	1	3	1	4	3	4	1	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50750880A>G	ENST00000300589.2	+	6	2730	c.2625A>G	c.(2623-2625)gcA>gcG	p.A875A		NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	875					activation of MAPK activity involved in innate immune response|cytokine production involved in immune response|detection of bacterium|detection of muramyl dipeptide|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of macrophage apoptosis|nucleotide-binding oligomerization domain containing 2 signaling pathway|positive regulation of B cell activation|positive regulation of dendritic cell antigen processing and presentation|positive regulation of epithelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of gamma-delta T cell activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-1 beta secretion|positive regulation of interleukin-10 production|positive regulation of interleukin-17 production|positive regulation of interleukin-6 production|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of Notch signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity|positive regulation of prostaglandin-E synthase activity|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of stress-activated MAPK cascade|positive regulation of tumor necrosis factor production|positive regulation of type 2 immune response|protein oligomerization|stress-activated MAPK cascade|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	cell surface|cytosol|plasma membrane|vesicle	ATP binding|CARD domain binding|muramyl dipeptide binding|protein kinase binding			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				ACTTCTTGGCATTGAGGTGAG	0.502													G	50750880	A	G	50750880	2	3	364	1	0	0	0	0	0	0	0	1	10593	204	8	3		3	NOD2	16	50750880	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	318	50750880	39603873	11639	35141											
CYLD	1540	broad.mit.edu	37	chr16	50785659	50785659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattggaaagtgattacGcaggtcctggggacacaatg	11	9	13	8	1	0	1	0	1	0	0	1	3	1	3	1	4	2	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50785659G>A	ENST00000540145.1	+	5	1064	c.649G>A	c.(649-651)Gca>Aca	p.A217T	CYLD_ENST00000564326.1_Missense_Mutation_p.A217T|CYLD_ENST00000398568.2_Missense_Mutation_p.A217T|CYLD_ENST00000569418.1_Missense_Mutation_p.A217T|CYLD_ENST00000311559.9_Missense_Mutation_p.A217T|CYLD_ENST00000427738.3_Missense_Mutation_p.A217T|CYLD_ENST00000566206.1_Missense_Mutation_p.A217T|CYLD_ENST00000568704.2_Missense_Mutation_p.A217T			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	217	Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				AAGTGATTACGCAGGTCCTGG	0.418			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				A	50785659	G	A	50785659	3	1	364	1	0	0	0	0	1	0	0	0	4176	1087	38	1	655	1	CYLD	16	50785659	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34779	50785659	39569094	11640	35142											
CYLD	1540	broad.mit.edu	37	chr16	50813864	50813864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaagtgggctcattggCtgaagttaaggagaaccctc	11	10	12	8	0	2	3	1	1	1	2	3	4	2	3	1	3	1	3	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50813864C>T	ENST00000540145.1	+	9	1842	c.1427C>T	c.(1426-1428)gCt>gTt	p.A476V	CYLD_ENST00000564326.1_Missense_Mutation_p.A473V|CYLD_ENST00000398568.2_Missense_Mutation_p.A473V|CYLD_ENST00000569418.1_Missense_Mutation_p.A473V|CYLD_ENST00000311559.9_Missense_Mutation_p.A476V|CYLD_ENST00000427738.3_Missense_Mutation_p.A476V|CYLD_ENST00000566206.1_Missense_Mutation_p.A473V|CYLD_ENST00000568704.2_Intron			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	476	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				GGCTCATTGGCTGAAGTTAAG	0.512			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				T	50813864	C	T	50813864	3	4	364	1	0	0	0	0	1	0	0	0	4176	797	28	2	1453	2	CYLD	16	50813864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28205	50813864	39540889	11641	35143											
CYLD	1540	broad.mit.edu	37	chr16	50828334	50828334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacagcatggccgatcGggatggtactgaaaacgcct	10	9	12	10	3	0	2	0	2	0	0	1	4	0	3	2	3	3	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:50828334G>A	ENST00000540145.1	+	18	3096	c.2681G>A	c.(2680-2682)cGg>cAg	p.R894Q	CYLD_ENST00000564326.1_Missense_Mutation_p.R891Q|CYLD_ENST00000398568.2_Missense_Mutation_p.R891Q|CYLD_ENST00000569418.1_Missense_Mutation_p.R891Q|CYLD_ENST00000311559.9_Missense_Mutation_p.R894Q|CYLD_ENST00000427738.3_Missense_Mutation_p.R894Q|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000566206.1_Missense_Mutation_p.R891Q|RP11-327F22.4_ENST00000575917.1_RNA|CYLD_ENST00000568704.2_Missense_Mutation_p.R709Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	894					cell cycle|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|protein K63-linked deubiquitination|regulation of microtubule cytoskeleton organization|regulation of mitotic cell cycle|translation|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	cytosol|extrinsic to internal side of plasma membrane|microtubule|perinuclear region of cytoplasm|ribosome	proline-rich region binding|protein kinase binding|structural constituent of ribosome|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ATGGCCGATCGGGATGGTACT	0.463			"Mis, N, F, S"		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis				A	50828334	G	A	50828334	3	1	364	1	0	0	0	0	1	0	0	0	4176	1116	39	1	2743	1	CYLD	16	50828334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14470	50828334	39526419	11642	35144											
SALL1	6299	broad.mit.edu	37	chr16	51175341	51175341	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggactagaagatgttggCaagtctgcattctgagaagc	13	9	13	6	0	2	3	0	1	2	3	2	6	2	4	0	2	2	3	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:51175341C>G	ENST00000440970.1	-	2	932	c.501G>C	c.(499-501)ttG>ttC	p.L167F	SALL1_ENST00000566102.1_Intron|SALL1_ENST00000541611.1_Intron|SALL1_ENST00000251020.4_Missense_Mutation_p.L264F	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	264					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			AAGATGTTGGCAAGTCTGCAT	0.488													G	51175341	C	G	51175341	3	3	364	1	0	0	0	0	1	0	0	0	13901	709	25	4	3190	4	SALL1	16	51175341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	347007	51175341	39179412	11643	35145											
CHD9	80205	broad.mit.edu	37	chr16	53272404	53272404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaactgggagagagaatttcGtacgtggactgatattaacg	14	10	12	5	3	0	3	0	1	0	2	1	6	0	4	0	2	3	1	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53272404G>A	ENST00000566029.1	+	12	2992	c.2783G>A	c.(2782-2784)cGt>cAt	p.R928H	CHD9_ENST00000398510.3_Missense_Mutation_p.R928H|CHD9_ENST00000564845.1_Missense_Mutation_p.R928H|CHD9_ENST00000447540.1_Missense_Mutation_p.R928H			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	928	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding	p.R928H(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AGAGAATTTCGTACGTGGACT	0.403													A	53272404	G	A	53272404	3	1	364	1	0	0	0	0	1	0	0	0	3362	1145	40	1	2825	1	CHD9	16	53272404	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2097063	53272404	37082349	11644	35146											
CHD9	80205	broad.mit.edu	37	chr16	53279639	53279639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atattcaaaagaaatactacCgggctatcttggaaaagaac	18	9	7	7	1	2	2	1	0	1	2	2	3	2	3	1	2	3	1	1	2	10	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53279639C>T	ENST00000566029.1	+	15	3540	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CHD9_ENST00000398510.3_Missense_Mutation_p.R1111W|CHD9_ENST00000564845.1_Missense_Mutation_p.R1111W|CHD9_ENST00000447540.1_Missense_Mutation_p.R1111W			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1111					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAAATACTACCGGGCTATCTT	0.358													T	53279639	C	T	53279639	3	4	364	1	0	0	0	0	1	0	0	0	3362	643	23	1	3385	1	CHD9	16	53279639	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7235	53279639	37075114	11645	35147											
RBL2	5934	broad.mit.edu	37	chr16	53472995	53472995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctgttccaactgtaaGcaaagggacagtggaaggaa	17	7	11	6	0	1	0	0	0	1	0	2	3	2	3	1	3	2	3	1	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53472995G>A	ENST00000262133.6	+	2	445	c.308G>A	c.(307-309)aGc>aAc	p.S103N		NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	103					cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CCAACTGTAAGCAAAGGGACA	0.353													A	53472995	G	A	53472995	3	1	364	1	0	0	0	0	1	0	0	0	13198	971	34	2	314	2	RBL2	16	53472995	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	193356	53472995	36881758	11646	35148											
RBL2	5934	broad.mit.edu	37	chr16	53496517	53496517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctttactataaagtattaGaatctgttattgagcaggaa	14	15	8	4	0	1	2	0	1	1	1	1	3	1	3	0	1	3	4	0	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53496517G>A	ENST00000262133.6	+	11	1647	c.1510G>A	c.(1510-1512)Gaa>Aaa	p.E504K	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Missense_Mutation_p.E288K	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	504	Domain A.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TAAAGTATTAGAATCTGTTAT	0.323													A	53496517	G	A	53496517	3	1	364	1	0	0	0	0	1	0	0	0	13198	943	33	2	1552	2	RBL2	16	53496517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23522	53496517	36858236	11647	35149											
AKTIP	64400	broad.mit.edu	37	chr16	53532473	53532473	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggaggactggttttcacGtcccctgttaatgtcttctc	5	15	10	11	2	3	0	1	0	2	0	5	2	4	2	2	3	0	2	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53532473G>A	ENST00000394657.7	-	3	252	c.78C>T	c.(76-78)gaC>gaT	p.D26D	AKTIP_ENST00000300245.4_Silent_p.D26D|AKTIP_ENST00000570004.1_Silent_p.D26D	NM_001012398.1|NM_022476.2	NP_001012398.1|NP_071921.1	Q9H8T0	AKTIP_HUMAN	AKT interacting protein						apoptosis|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|positive regulation of protein binding|positive regulation of protein phosphorylation|protein transport	FHF complex|plasma membrane	acid-amino acid ligase activity|protein binding			large_intestine(1)|lung(2)|prostate(2)	5		all_cancers(37;0.14)				TGGTTTTCACGTCCCCTGTTA	0.418													A	53532473	G	A	53532473	2	1	364	1	0	0	0	0	0	0	0	1	482	1136	40	1		1	AKTIP	16	53532473	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35956	53532473	36822280	11648	35150											
RPGRIP1L	23322	broad.mit.edu	37	chr16	53691517	53691517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactttcactaaaaaggaaaGgtctccatttttttgttctt	11	18	5	7	0	3	0	1	0	2	0	4	1	3	1	1	2	1	1	1	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:53691517G>T	ENST00000262135.4	-	13	1522	c.1429C>A	c.(1429-1431)Ctt>Att	p.L477I	RPGRIP1L_ENST00000564374.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000563746.1_Missense_Mutation_p.L477I|RPGRIP1L_ENST00000379925.3_Missense_Mutation_p.L477I	NM_001127897.1	NP_001121369.1	Q68CZ1	FTM_HUMAN	RPGRIP1-like	477					negative regulation of G-protein coupled receptor protein signaling pathway	cell-cell junction|centrosome|cilium axoneme|microtubule basal body	thromboxane A2 receptor binding			endometrium(6)|kidney(3)|large_intestine(9)|lung(19)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(2)	46		all_cancers(37;0.0973)				AAAAAGGAAAGGTCTCCATTT	0.313													T	53691517	G	T	53691517	3	4	364	1	0	0	0	0	1	0	0	0	13641	1000	35	4	2578	4	RPGRIP1L	16	53691517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159044	53691517	36663236	11649	35151											
IRX5	10265	broad.mit.edu	37	chr16	54967551	54967551	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctctctactacaccgcGcccttctatcccggctacac	6	9	6	20	4	2	0	0	0	2	0	4	0	3	0	4	2	3	1	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:54967551G>A	ENST00000394636.4	+	3	1555	c.1218G>A	c.(1216-1218)gcG>gcA	p.A406A	IRX5_ENST00000558597.1_Silent_p.A340A|IRX5_ENST00000560154.1_Silent_p.A186A|IRX5_ENST00000320990.5_Silent_p.A405A			P78411	IRX5_HUMAN	iroquois homeobox 5	406					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						ACTACACCGCGCCCTTCTATC	0.701													A	54967551	G	A	54967551	2	1	364	1	0	0	0	0	0	0	0	1	7905	1074	38	1		1	IRX5	16	54967551	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1276034	54967551	35387202	11650	35152											
LPCAT2	54947	broad.mit.edu	37	chr16	55566747	55566747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggttgcaggagccttcattCcaggagttccagtgcagcca	8	10	12	11	0	1	0	1	0	0	0	3	2	3	2	4	3	4	4	4	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55566747C>T	ENST00000262134.5	+	6	899	c.715C>T	c.(715-717)Cca>Tca	p.P239S		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	239					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						AGCCTTCATTCCAGGAGTTCC	0.353													T	55566747	C	T	55566747	3	4	364	1	0	0	0	0	1	0	0	0	8981	855	30	2	737	2	LPCAT2	16	55566747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	599196	55566747	34788006	11651	35153											
LPCAT2	54947	broad.mit.edu	37	chr16	55584911	55584911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatgaatatgcatctattgCgagttcctcaaaaggaggaa	14	10	11	6	1	2	1	1	1	1	0	3	5	3	4	1	3	2	2	1	3	6	4	rs139462449		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55584911C>T	ENST00000262134.5	+	11	1296	c.1112C>T	c.(1111-1113)gCg>gTg	p.A371V		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	371					cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GCATCTATTGCGAGTTCCTCA	0.348													T	55584911	C	T	55584911	3	4	364	1	0	0	0	0	1	0	0	0	8981	768	27	1	1154	1	LPCAT2	16	55584911	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18164	55584911	34769842	11652	35154											
CAPNS2	84290	broad.mit.edu	37	chr16	55601250	55601250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caactttaccaaatgattgtCcgccggtatgctaatgaaga	13	11	8	9	2	0	3	0	2	0	1	1	3	1	3	3	1	3	2	3	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601250C>T	ENST00000457326.2	+	1	667	c.582C>T	c.(580-582)gtC>gtT	p.V194V	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	194	EF-hand 3.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						AAATGATTGTCCGCCGGTATG	0.493													T	55601250	C	T	55601250	2	4	364	1	0	0	0	0	0	0	0	1	2660	842	30	2		2	CAPNS2	16	55601250	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16339	55601250	34753503	11653	35155											
CAPNS2	84290	broad.mit.edu	37	chr16	55601375	55601375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagatggcctgattcaagTgtctatcaaagaatggctgc	12	11	11	7	0	3	3	2	1	1	2	3	4	3	3	1	2	1	1	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55601375T>C	ENST00000457326.2	+	1	792	c.707T>C	c.(706-708)gTg>gCg	p.V236A	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	236	EF-hand 4.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						CTGATTCAAGTGTCTATCAAA	0.463													C	55601375	T	C	55601375	3	2	364	1	0	0	0	0	1	0	0	0	2660	1696	59	3	709	3	CAPNS2	16	55601375	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	125	55601375	34753378	11654	35156											
SLC6A2	6530	broad.mit.edu	37	chr16	55732428	55732428	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctttgctgcgggcacCtccatcctttttgctgtcct	4	14	8	15	1	0	0	0	0	0	0	3	1	3	0	5	1	3	3	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55732428C>A	ENST00000379906.2	+	10	1692	c.1437C>A	c.(1435-1437)acC>acA	p.T479T	SLC6A2_ENST00000414754.3_Silent_p.T479T|SLC6A2_ENST00000566163.1_Silent_p.T434T|SLC6A2_ENST00000219833.8_Silent_p.T479T|SLC6A2_ENST00000561820.1_Silent_p.T479T|SLC6A2_ENST00000567238.1_Silent_p.T374T|SLC6A2_ENST00000568943.1_Silent_p.T479T	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	479					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	CTGCGGGCACCTCCATCCTTT	0.532													A	55732428	C	A	55732428	2	1	364	1	0	0	0	0	0	0	0	1	14777	668	24	4		4	SLC6A2	16	55732428	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131053	55732428	34622325	11655	35157											
CES1	1066	broad.mit.edu	37	chr16	55860116	55860116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgtaaatattgaggtaaaGacagtcttcagaaagcttga	16	11	10	4	0	2	4	1	2	1	2	2	4	2	4	0	1	1	3	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:55860116G>A	ENST00000422046.2	-	3	630	c.349C>T	c.(349-351)Ctt>Ttt	p.L117F	CES1_ENST00000361503.4_Missense_Mutation_p.L117F|CES1_ENST00000360526.3_Missense_Mutation_p.L118F|CES1_ENST00000566555.1_5'UTR			P23141	EST1_HUMAN	carboxylesterase 1	117					response to toxin	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity								all cancers(182;0.13)|Epithelial(162;0.137)	Aminoglutethimide(DB00357)|Bezafibrate(DB01393)|Cholestyramine(DB01432)|Moexipril(DB00691)	TTGAGGTAAAGACAGTCTTCA	0.517													A	55860116	G	A	55860116	3	1	364	1	0	0	0	0	1	0	0	0	3299	942	33	2	1402	2	CES1	16	55860116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127688	55860116	34494637	11656	35158											
GNAO1	2775	broad.mit.edu	37	chr16	56388803	56388803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacctatgaagacgcagcCgcctacatccaagcacaatt	15	7	6	13	2	0	2	0	1	0	1	1	2	1	2	4	0	4	2	4	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56388803C>T	ENST00000262493.6	+	8	1749	c.903C>T	c.(901-903)gcC>gcT	p.A301A		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	301					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AAGACGCAGCCGCCTACATCC	0.507													T	56388803	C	T	56388803	2	4	364	1	0	0	0	0	0	0	0	1	6564	639	23	1		1	GNAO1	16	56388803	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	528687	56388803	33965950	11657	35159											
AMFR	267	broad.mit.edu	37	chr16	56423204	56423204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgatgttcttccctgAcacgattattgtcggcaata	8	15	7	11	2	1	2	0	2	1	0	4	3	3	2	2	1	0	2	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56423204A>G	ENST00000290649.5	-	9	1379	c.1169T>C	c.(1168-1170)gTc>gCc	p.V390A		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	390					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						TTCTTCCCTGACACGATTATT	0.453													G	56423204	A	G	56423204	3	3	364	1	0	0	0	0	1	0	0	0	571	275	10	3	786	3	AMFR	16	56423204	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34401	56423204	33931549	11658	35160											
MT4	84560	broad.mit.edu	37	chr16	56602768	56602768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgctgtccctgctGccccccgggctgtgccaaat	4	10	11	16	1	1	0	1	0	0	0	2	0	2	0	5	2	4	4	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56602768G>A	ENST00000219162.3	+	3	193	c.113G>A	c.(112-114)tGc>tAc	p.C38Y		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	38						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						TGTCCCTGCTGCCCCCCGGGC	0.602													A	56602768	G	A	56602768	3	1	364	1	0	0	0	0	1	0	0	0	9983	1319	46	2	123	2	MT4	16	56602768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179564	56602768	33751985	11659	35161											
MT2A	4502	broad.mit.edu	37	chr16	56642952	56642952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatgcaaagagtgcaaatGcacctcctgcaagaaaagta	18	6	8	9	0	0	2	0	0	0	2	1	2	1	2	2	0	4	5	2	0	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56642952G>A	ENST00000245185.5	+	2	534	c.77G>A	c.(76-78)tGc>tAc	p.C26Y	MT2A_ENST00000561491.1_Missense_Mutation_p.C26Y|MT2A_ENST00000563985.1_3'UTR	NM_005953.3	NP_005944.1	P02795	MT2_HUMAN	metallothionein 2A	26	Beta.				cellular copper ion homeostasis|interferon-gamma-mediated signaling pathway		metal ion binding|protein binding			breast(1)|endometrium(1)|lung(1)	3						GAGTGCAAATGCACCTCCTGC	0.542													A	56642952	G	A	56642952	3	1	364	1	0	0	0	0	1	0	0	0	9981	1319	46	2	83	2	MT2A	16	56642952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40184	56642952	33711801	11660	35162											
MT1B	4490	broad.mit.edu	37	chr16	56686499	56686499	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggtggctcctgtgcctgCgccggctcctgcaagtgcaa	5	8	14	14	2	0	0	0	0	0	0	2	0	2	0	4	3	4	5	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56686499C>T	ENST00000334346.2	+	2	100	c.45C>T	c.(43-45)tgC>tgT	p.C15C	RP11-249C24.11_ENST00000568608.1_RNA|MT1B_ENST00000562399.1_Silent_p.C15C	NM_005947.2	NP_005938.1	P07438	MT1B_HUMAN	metallothionein 1B	15	Beta.					cytoplasm	cadmium ion binding|copper ion binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4						CCTGTGCCTGCGCCGGCTCCT	0.552													T	56686499	C	T	56686499	2	4	364	1	0	0	0	0	0	0	0	1	9974	776	27	1		1	MT1B	16	56686499	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43547	56686499	33668254	11661	35163											
NUP93	9688	broad.mit.edu	37	chr16	56839423	56839423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctttctggcagaccttcgGcatggctgaggagtaccatc	7	11	11	12	1	1	2	0	1	1	1	4	3	2	3	3	4	1	4	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56839423G>A	ENST00000569842.1	+	5	464	c.368G>A	c.(367-369)gGc>gAc	p.G123D	NUP93_ENST00000569595.1_3'UTR|NUP93_ENST00000308159.5_Missense_Mutation_p.G123D|NUP93_ENST00000564887.1_5'UTR|NUP93_ENST00000542526.1_5'UTR			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	123					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CAGACCTTCGGCATGGCTGAG	0.483													A	56839423	G	A	56839423	3	1	364	1	0	0	0	0	1	0	0	0	10848	1203	42	2	382	2	NUP93	16	56839423	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152924	56839423	33515330	11662	35164											
NUP93	9688	broad.mit.edu	37	chr16	56868649	56868649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttttccttccacagttcGatatgattcttgggaaacta	9	17	6	9	1	1	1	0	1	1	0	4	3	3	2	2	1	1	1	2	1	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56868649G>A	ENST00000564887.1	+	14	2001	c.1372G>A	c.(1372-1374)Gat>Aat	p.D458N	NUP93_ENST00000308159.5_Missense_Mutation_p.D581N|NUP93_ENST00000569842.1_Missense_Mutation_p.D581N|NUP93_ENST00000542526.1_Missense_Mutation_p.D458N	NM_001242795.1	NP_001229724.1	Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	581					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						TCCACAGTTCGATATGATTCT	0.338													A	56868649	G	A	56868649	3	1	364	1	0	0	0	0	1	0	0	0	10848	1058	37	1	1799	1	NUP93	16	56868649	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29226	56868649	33486104	11663	35165											
SLC12A3	6559	broad.mit.edu	37	chr16	56913136	56913136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacggcctcatcaactattaCcaggtactgccaggagagct	11	9	9	12	1	2	1	2	0	0	1	2	2	2	1	3	3	6	2	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56913136C>T	ENST00000438926.2	+	10	1361	c.1332C>T	c.(1330-1332)taC>taT	p.Y444Y	SLC12A3_ENST00000566786.1_Silent_p.Y443Y|SLC12A3_ENST00000262502.5_Silent_p.Y443Y|SLC12A3_ENST00000563236.1_Silent_p.Y444Y	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	444					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	TCAACTATTACCAGGTACTGC	0.627													T	56913136	C	T	56913136	2	4	364	1	0	0	0	0	0	0	0	1	14478	518	18	2		2	SLC12A3	16	56913136	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44487	56913136	33441617	11664	35166											
HERPUD1	9709	broad.mit.edu	37	chr16	56969209	56969209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttggatcaccaatgtctcagGgacttgcttccaaaggtaca	11	11	9	10	0	2	0	2	0	1	0	4	2	3	2	2	3	2	2	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:56969209G>T	ENST00000439977.2	+	2	407	c.210G>T	c.(208-210)agG>agT	p.R70S	HERPUD1_ENST00000344114.4_Missense_Mutation_p.R70S|HERPUD1_ENST00000379792.2_Missense_Mutation_p.R70S|HERPUD1_ENST00000300302.5_Missense_Mutation_p.R70S|HERPUD1_ENST00000570273.1_3'UTR	NM_001010989.1|NM_014685.2	NP_001010989.1|NP_055500.1	Q15011	HERP1_HUMAN	homocysteine-inducible, endoplasmic reticulum stress-inducible, ubiquitin-like domain member 1	70	Ubiquitin-like.					endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|stomach(1)	11						AATGTCTCAGGGACTTGCTTC	0.413			T	ERG	prostate								T	56969209	G	T	56969209	3	4	364	1	0	0	0	0	1	0	0	0	7118	1223	43	4	216	4	HERPUD1	16	56969209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56073	56969209	33385544	11665	35167											
CETP	1071	broad.mit.edu	37	chr16	57012048	57012048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtcaccgtccactgcCtcaagatgcccaagatctcc	10	7	6	18	1	3	2	2	0	1	2	5	2	4	2	6	0	2	0	6	0	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57012048C>T	ENST00000200676.3	+	11	1157	c.1027C>T	c.(1027-1029)Ctc>Ttc	p.L343F	CETP_ENST00000566128.1_Missense_Mutation_p.L278F|CETP_ENST00000379780.2_Missense_Mutation_p.L283F	NM_000078.2	NP_000069.2	P11597	CETP_HUMAN	cholesteryl ester transfer protein, plasma	343					cholesterol homeostasis|cholesterol metabolic process|high-density lipoprotein particle remodeling|lipoprotein metabolic process|low-density lipoprotein particle remodeling|phosphatidylcholine metabolic process|phospholipid homeostasis|receptor-mediated endocytosis|regulation of cholesterol efflux|triglyceride homeostasis|triglyceride metabolic process|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle|vesicle	cholesterol binding|cholesterol transporter activity|phosphatidylcholine binding|phospholipid transporter activity|triglyceride binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(4)|skin(3)	23						CGTCCACTGCCTCAAGATGCC	0.582													T	57012048	C	T	57012048	3	4	364	1	0	0	0	0	1	0	0	0	3307	681	24	2	1069	2	CETP	16	57012048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42839	57012048	33342705	11666	35168											
NLRC5	84166	broad.mit.edu	37	chr16	57063993	57063993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccgtcaggatgcttcaggCcaggtgagcagaaggaaagg	12	6	15	8	1	2	2	2	1	0	1	2	4	2	4	2	5	3	2	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57063993C>T	ENST00000436936.1	+	10	2639	c.2414C>T	c.(2413-2415)gCc>gTc	p.A805V	NLRC5_ENST00000539144.1_Missense_Mutation_p.A805V|NLRC5_ENST00000262510.6_Missense_Mutation_p.A805V|NLRC5_ENST00000308149.7_Missense_Mutation_p.A805V			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	805					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				ATGCTTCAGGCCAGGTGAGCA	0.562													T	57063993	C	T	57063993	3	4	364	1	0	0	0	0	1	0	0	0	10546	739	26	2	2444	2	NLRC5	16	57063993	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51945	57063993	33290760	11667	35169											
NLRC5	84166	broad.mit.edu	37	chr16	57092917	57092917	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcatttctcaggaaagtgcCctgtacctgctggagacact	10	10	10	11	0	1	1	1	0	1	1	2	3	1	2	2	2	4	3	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57092917C>A	ENST00000436936.1	+	29	4089	c.3864C>A	c.(3862-3864)gcC>gcA	p.A1288A	NLRC5_ENST00000539144.1_Silent_p.A1259A|NLRC5_ENST00000262510.6_Silent_p.A1288A|NLRC5_ENST00000308149.7_Silent_p.A1259A			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1288					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGAAAGTGCCCTGTACCTGC	0.587													A	57092917	C	A	57092917	2	1	364	1	0	0	0	0	0	0	0	1	10546	610	22	4		4	NLRC5	16	57092917	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28924	57092917	33261836	11668	35170											
CPNE2	221184	broad.mit.edu	37	chr16	57144795	57144795	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaagtccgaccccttCtgtgtcctctttacagagaa	9	11	6	15	1	2	1	0	0	2	1	5	3	5	1	6	0	1	0	6	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57144795C>A	ENST00000535318.2	+	3	502	c.141C>A	c.(139-141)ttC>ttA	p.F47L	CPNE2_ENST00000537605.1_5'UTR|CPNE2_ENST00000565874.1_Missense_Mutation_p.F47L|CPNE2_ENST00000290776.8_Missense_Mutation_p.F47L			Q96FN4	CPNE2_HUMAN	copine II	47	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				CCGACCCCTTCTGTGTCCTCT	0.602													A	57144795	C	A	57144795	3	1	364	1	0	0	0	0	1	0	0	0	3843	912	32	4	143	4	CPNE2	16	57144795	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51878	57144795	33209958	11669	35171											
RSPRY1	89970	broad.mit.edu	37	chr16	57238868	57238868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagaaagaaacaaaatGtggatgggctagtgttggac	16	7	14	4	0	0	2	0	0	0	2	0	5	0	4	0	4	1	2	0	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57238868G>A	ENST00000537866.1	+	2	1171	c.298G>A	c.(298-300)Gtg>Atg	p.V100M	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V100M			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	100						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						GAAACAAAATGTGGATGGGCT	0.517													A	57238868	G	A	57238868	3	1	364	1	0	0	0	0	1	0	0	0	13804	1377	48	2	300	2	RSPRY1	16	57238868	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94073	57238868	33115885	11670	35172											
RSPRY1	89970	broad.mit.edu	37	chr16	57247814	57247814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctaggtcctgcaagtataGgtttacttagcccaggaata	11	12	10	8	0	1	0	0	0	1	0	2	1	2	1	2	3	3	3	2	3	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57247814G>T	ENST00000537866.1	+	6	1531	c.658G>T	c.(658-660)Ggt>Tgt	p.G220C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.G220C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	220						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGCAAGTATAGGTTTACTTAG	0.338													T	57247814	G	T	57247814	3	4	364	1	0	0	0	0	1	0	0	0	13804	1000	35	4	676	4	RSPRY1	16	57247814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8946	57247814	33106939	11671	35173											
RSPRY1	89970	broad.mit.edu	37	chr16	57254721	57254721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctgaatagcaatgatGtcagcgagtacctgaagatc	13	9	10	9	1	1	4	1	3	0	1	2	5	1	4	2	0	4	3	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57254721G>A	ENST00000537866.1	+	9	1852	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	RSPRY1_ENST00000394420.4_Missense_Mutation_p.V327I			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	327	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TAGCAATGATGTCAGCGAGTA	0.423													A	57254721	G	A	57254721	3	1	364	1	0	0	0	0	1	0	0	0	13804	1377	48	2	1009	2	RSPRY1	16	57254721	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6907	57254721	33100032	11672	35174											
RSPRY1	89970	broad.mit.edu	37	chr16	57255217	57255217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctcttttgaaagtgtgCgttgcaccttttgtgtggat	5	17	10	9	1	1	1	0	1	1	0	2	2	2	2	3	1	2	2	3	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57255217C>T	ENST00000537866.1	+	10	1924	c.1051C>T	c.(1051-1053)Cgt>Tgt	p.R351C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R351C			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	351	B30.2/SPRY.					extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TGAAAGTGTGCGTTGCACCTT	0.483													T	57255217	C	T	57255217	3	4	364	1	0	0	0	0	1	0	0	0	13804	768	27	1	1085	1	RSPRY1	16	57255217	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	496	57255217	33099536	11673	35175											
RSPRY1	89970	broad.mit.edu	37	chr16	57272840	57272840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagacctgcccattgtgtCgtaaagaaatagtatctaga	13	11	10	7	1	1	3	0	0	1	3	2	4	1	3	2	1	1	2	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57272840C>T	ENST00000537866.1	+	15	2557	c.1684C>T	c.(1684-1686)Cgt>Tgt	p.R562C	RSPRY1_ENST00000394420.4_Missense_Mutation_p.R562C|RSPRY1_ENST00000563073.1_3'UTR			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	562						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						CCCATTGTGTCGTAAAGAAAT	0.418													T	57272840	C	T	57272840	3	4	364	1	0	0	0	0	1	0	0	0	13804	884	31	1	1738	1	RSPRY1	16	57272840	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17623	57272840	33081913	11674	35176											
POLR2C	5432	broad.mit.edu	37	chr16	57503104	57503104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtgaggagttctgccccGagtgctcggtggagttcacc	6	10	14	11	2	2	1	1	1	1	0	3	4	2	3	3	3	2	3	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57503104G>A	ENST00000219252.5	+	5	624	c.286G>A	c.(286-288)Gag>Aag	p.E96K	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	96	Cys-rich.				mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						GTTCTGCCCCGAGTGCTCGGT	0.572													A	57503104	G	A	57503104	3	1	364	1	0	0	0	0	1	0	0	0	12293	1059	37	1	304	1	POLR2C	16	57503104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230264	57503104	32851649	11675	35177											
POLR2C	5432	broad.mit.edu	37	chr16	57504908	57504908	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttactacaatgtggagtcCtgtggctctctgcgtcctga	6	15	10	10	1	1	1	0	1	1	0	4	2	3	2	2	2	3	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57504908C>A	ENST00000219252.5	+	9	1043	c.705C>A	c.(703-705)tcC>tcA	p.S235S		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	235					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						ATGTGGAGTCCTGTGGCTCTC	0.527													A	57504908	C	A	57504908	2	1	364	1	0	0	0	0	0	0	0	1	12293	668	24	4		4	POLR2C	16	57504908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1804	57504908	32849845	11676	35178											
DOK4	55715	broad.mit.edu	37	chr16	57507814	57507814	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgcccgctgcctcaccCtcacgttcttctccatttcc	4	13	5	19	2	4	1	2	1	2	0	6	1	5	1	5	0	2	2	5	0	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57507814C>T	ENST00000566936.1	-	6	1034	c.737G>A	c.(736-738)aGg>aAg	p.R246K	DOK4_ENST00000569548.1_Splice_Site_p.R246K|DOK4_ENST00000340099.4_Splice_Site_p.R246K			Q8TEW6	DOK4_HUMAN	docking protein 4	246							insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						CTGCCTCACCCTCACGTTCTT	0.652													T	57507814	C	T	57507814	5	4	364	1	0	0	0	0	0	0	1	0	4738	695	24	2	255	2	DOK4	16	57507814	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2906	57507814	32846939	11677	35179											
DOK4	55715	broad.mit.edu	37	chr16	57509501	57509501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtctccttggggagccgcGtaacacacttgacgttgctg	6	11	13	11	3	1	1	0	1	1	0	2	2	1	2	2	3	3	3	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57509501G>A	ENST00000566936.1	-	3	503	c.206C>T	c.(205-207)aCg>aTg	p.T69M	DOK4_ENST00000569548.1_Missense_Mutation_p.T69M|DOK4_ENST00000561918.1_5'UTR|DOK4_ENST00000340099.4_Missense_Mutation_p.T69M			Q8TEW6	DOK4_HUMAN	docking protein 4	69	PH.						insulin receptor binding			kidney(1)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(2)	6						GGGGAGCCGCGTAACACACTT	0.572													A	57509501	G	A	57509501	3	1	364	1	0	0	0	0	1	0	0	0	4738	1145	40	1	798	1	DOK4	16	57509501	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1687	57509501	32845252	11678	35180											
CCDC102A	92922	broad.mit.edu	37	chr16	57550268	57550268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagccgcagcttcttcacCtcagcctcgtgctgctccac	5	9	8	19	3	3	0	2	0	1	0	5	0	4	0	4	0	5	5	4	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57550268C>A	ENST00000258214.2	-	7	1602	c.1356G>T	c.(1354-1356)gaG>gaT	p.E452D		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	452										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						GCTTCTTCACCTCAGCCTCGT	0.627													A	57550268	C	A	57550268	3	1	364	1	0	0	0	0	1	0	0	0	2762	680	24	4	308	4	CCDC102A	16	57550268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40767	57550268	32804485	11679	35181											
GPR97	222487	broad.mit.edu	37	chr16	57717923	57717923	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctgttcctcctgaatCtggccttcttggtcaatgtg	5	14	10	12	0	3	1	1	1	2	0	5	1	5	1	4	2	1	2	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57717923C>A	ENST00000333493.4	+	9	1122	c.961C>A	c.(961-963)Ctg>Atg	p.L321M	GPR97_ENST00000327655.6_Missense_Mutation_p.L111M|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.L201M	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	321					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCCTGAATCTGGCCTTCTT	0.592													A	57717923	C	A	57717923	3	1	364	1	0	0	0	0	1	0	0	0	6775	912	32	4	995	4	GPR97	16	57717923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167655	57717923	32636830	11680	35182											
CCDC135	84229	broad.mit.edu	37	chr16	57741392	57741392	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcggagaaggcaaagccGgatgccctgcacggcctgcg	10	3	16	12	4	0	1	0	0	0	1	0	4	0	2	3	4	5	2	3	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57741392G>A	ENST00000360716.3	+	8	1100	c.879G>A	c.(877-879)ccG>ccA	p.P293P	CCDC135_ENST00000336825.8_Silent_p.P228P|CCDC135_ENST00000394337.4_Silent_p.P293P			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	293						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						AGGCAAAGCCGGATGCCCTGC	0.607													A	57741392	G	A	57741392	2	1	364	1	0	0	0	0	0	0	0	1	2795	1103	39	1		1	CCDC135	16	57741392	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23469	57741392	32613361	11681	35183											
CCDC135	84229	broad.mit.edu	37	chr16	57752284	57752284	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttgacctgggtgaccCtgtgagatgggagtacatgc	8	11	14	8	0	1	3	0	3	1	1	1	6	1	4	2	2	2	1	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57752284C>A	ENST00000360716.3	+	9	1324	c.1103C>A	c.(1102-1104)cCt>cAt	p.P368H	CCDC135_ENST00000336825.8_Missense_Mutation_p.P303H|CCDC135_ENST00000394337.4_Missense_Mutation_p.P368H			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	368						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTGGGTGACCCTGTGAGATGG	0.532													A	57752284	C	A	57752284	3	1	364	1	0	0	0	0	1	0	0	0	2795	681	24	4	1129	4	CCDC135	16	57752284	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10892	57752284	32602469	11682	35184											
KATNB1	10300	broad.mit.edu	37	chr16	57787351	57787351	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccagcagcgaggatgAccgggacgagcgcgagtccc	9	2	15	15	5	0	1	0	1	0	0	1	6	1	3	4	2	4	1	4	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57787351A>G	ENST00000379661.3	+	12	1489	c.1097A>G	c.(1096-1098)gAc>gGc	p.D366G		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	366	Interaction with PAFAH1B1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				AGCGAGGATGACCGGGACGAG	0.667													G	57787351	A	G	57787351	3	3	364	1	0	0	0	0	1	0	0	0	8045	275	10	3	1139	3	KATNB1	16	57787351	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35067	57787351	32567402	11683	35185											
KATNB1	10300	broad.mit.edu	37	chr16	57790311	57790311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctgaagctgatcctgcagCggtttctgcccctcatcaca	7	10	8	16	1	3	2	2	2	1	0	4	2	4	2	4	1	4	3	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57790311C>T	ENST00000379661.3	+	19	2154	c.1762C>T	c.(1762-1764)Cgg>Tgg	p.R588W		NM_005886.2	NP_005877.2	Q9BVA0	KTNB1_HUMAN	katanin p80 (WD repeat containing) subunit B 1	588	Interaction with KATNA1 and NDEL1 (By similarity).				cell division|mitosis|negative regulation of microtubule depolymerization|positive regulation of microtubule depolymerization|protein targeting	katanin complex|microtubule|spindle pole	microtubule binding|protein heterodimerization activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GATCCTGCAGCGGTTTCTGCC	0.597													T	57790311	C	T	57790311	3	4	364	1	0	0	0	0	1	0	0	0	8045	759	27	1	1832	1	KATNB1	16	57790311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2960	57790311	32564442	11684	35186											
KIFC3	3801	broad.mit.edu	37	chr16	57799471	57799471	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcgtcgtcggcatcgAaagtcacagcattggtggcc	8	9	14	10	4	1	0	1	0	0	0	5	2	1	1	1	4	1	2	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57799471A>C	ENST00000379655.4	-	11	1669	c.1412T>G	c.(1411-1413)tTc>tGc	p.F471C	KIFC3_ENST00000541240.1_Missense_Mutation_p.F493C|KIFC3_ENST00000540079.2_Missense_Mutation_p.F369C|KIFC3_ENST00000445690.2_Missense_Mutation_p.F471C|KIFC3_ENST00000421376.2_Missense_Mutation_p.F332C|KIFC3_ENST00000465878.2_Missense_Mutation_p.F332C|KIFC3_ENST00000543930.1_Missense_Mutation_p.F332C|KIFC3_ENST00000539578.1_Missense_Mutation_p.F413C|KIFC3_ENST00000562903.1_Missense_Mutation_p.F332C	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	471	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTCGGCATCGAAAGTCACAGC	0.592													C	57799471	A	C	57799471	3	2	364	1	0	0	0	0	1	0	0	0	8372	246	9	5	1134	5	KIFC3	16	57799471	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9160	57799471	32555282	11685	35187											
KIFC3	3801	broad.mit.edu	37	chr16	57832019	57832019	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccggtgtgtgggaaaGggcgggcggccgggctggct	3	5	23	10	5	0	0	0	0	0	0	0	1	0	1	3	8	0	2	3	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57832019G>T	ENST00000379655.4	-	2	394	c.137C>A	c.(136-138)cCt>cAt	p.P46H	KIFC3_ENST00000541240.1_Missense_Mutation_p.P68H|KIFC3_ENST00000445690.2_Missense_Mutation_p.P46H	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	46					epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTGTGGGAAAGGGCGGGCGGC	0.672													T	57832019	G	T	57832019	3	4	364	1	0	0	0	0	1	0	0	0	8372	1000	35	4	2445	4	KIFC3	16	57832019	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32548	57832019	32522734	11686	35188											
CNGB1	1258	broad.mit.edu	37	chr16	57937774	57937774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtaccaggtcttgacgcGgttctgcacggacttgggga	6	10	14	11	4	2	1	0	1	2	0	3	3	2	3	1	5	2	3	1	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57937774G>A	ENST00000564448.1	-	27	2788	c.2728C>T	c.(2728-2730)Cgc>Tgc	p.R910C	CNGB1_ENST00000251102.8_Missense_Mutation_p.R916C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	916					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity	p.R916G(1)		breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GTCTTGACGCGGTTCTGCACG	0.602													A	57937774	G	A	57937774	3	1	364	1	0	0	0	0	1	0	0	0	3631	1116	39	1	1037	1	CNGB1	16	57937774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105755	57937774	32416979	11687	35189											
CNGB1	1258	broad.mit.edu	37	chr16	57951325	57951325	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcgcacgggaatcagccaAcagttccaattccaggccat	12	6	9	14	2	1	0	1	0	0	0	3	1	3	1	4	2	3	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:57951325A>G	ENST00000564448.1	-	21	2055	c.1995T>C	c.(1993-1995)tgT>tgC	p.C665C	CNGB1_ENST00000251102.8_Silent_p.C671C			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	671					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAATCAGCCAACAGTTCCAAT	0.567													G	57951325	A	G	57951325	2	3	364	1	0	0	0	0	0	0	0	1	3631	41	2	3		3	CNGB1	16	57951325	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13551	57951325	32403428	11688	35190											
ZNF319	57567	broad.mit.edu	37	chr16	58030938	58030938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgccgcagcagctcggcaGattggtcaaagcctttctgg	7	10	13	11	2	2	1	1	0	1	1	3	1	2	1	2	3	4	4	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58030938G>A	ENST00000299237.2	-	2	1854	c.1232C>T	c.(1231-1233)tCt>tTt	p.S411F		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						CAGCTCGGCAGATTGGTCAAA	0.652													A	58030938	G	A	58030938	3	1	364	1	0	0	0	0	1	0	0	0	17938	942	33	2	520	2	ZNF319	16	58030938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79613	58030938	32323815	11689	35191											
ZNF319	57567	broad.mit.edu	37	chr16	58031995	58031995	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttgtgggggctgcaggcCggggtctggctgcaggagga	4	8	22	7	1	1	0	0	0	1	0	1	2	1	2	1	8	2	5	1	8	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58031995C>T	ENST00000299237.2	-	2	797	c.175G>A	c.(175-177)Ggc>Agc	p.G59S		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	59	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GGCTGCAGGCCGGGGTCTGGC	0.697													T	58031995	C	T	58031995	3	4	364	1	0	0	0	0	1	0	0	0	17938	652	23	1	1577	1	ZNF319	16	58031995	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1057	58031995	32322758	11690	35192											
MMP15	4324	broad.mit.edu	37	chr16	58073914	58073914	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatccggctgcggcgacaGaaggaggccgacatcatggt	10	5	15	11	4	1	1	1	0	0	1	2	5	2	2	2	5	1	1	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58073914G>T	ENST00000219271.3	+	4	1361	c.576G>T	c.(574-576)caG>caT	p.Q192H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	192					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCGGCGACAGAAGGAGGCCG	0.647													T	58073914	G	T	58073914	3	4	364	1	0	0	0	0	1	0	0	0	9729	933	33	4	590	4	MMP15	16	58073914	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41919	58073914	32280839	11691	35193											
MMP15	4324	broad.mit.edu	37	chr16	58075737	58075737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgacggggactttgacaCagtggccatgcttcgcgggg	6	8	16	11	4	0	1	0	1	0	0	1	3	0	2	1	5	2	1	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58075737C>T	ENST00000219271.3	+	6	1912	c.1127C>T	c.(1126-1128)aCa>aTa	p.T376I		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	376	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						GACTTTGACACAGTGGCCATG	0.677													T	58075737	C	T	58075737	3	4	364	1	0	0	0	0	1	0	0	0	9729	478	17	2	1149	2	MMP15	16	58075737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1823	58075737	32279016	11692	35194											
MMP15	4324	broad.mit.edu	37	chr16	58076166	58076166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgagtccggcacaaccGcgtcctggacaactatccca	9	6	10	16	4	0	0	0	0	0	0	3	2	3	1	4	3	2	1	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58076166G>A	ENST00000219271.3	+	7	1981	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	399	Hemopexin-like 1.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGCACAACCGCGTCCTGGAC	0.637													A	58076166	G	A	58076166	3	1	364	1	0	0	0	0	1	0	0	0	9729	1087	38	1	1222	1	MMP15	16	58076166	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	429	58076166	32278587	11693	35195											
CCDC113	29070	broad.mit.edu	37	chr16	58292308	58292308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaaattcgatggagtgaaGtttcgagagaagtgcatgag	13	10	14	4	2	0	4	0	3	0	1	2	8	0	5	0	1	1	2	0	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58292308G>T	ENST00000219299.4	+	4	506	c.427G>T	c.(427-429)Gtt>Ttt	p.V143F	CCDC113_ENST00000443128.2_Missense_Mutation_p.V89F	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	143						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						ATGGAGTGAAGTTTCGAGAGA	0.413													T	58292308	G	T	58292308	3	4	364	1	0	0	0	0	1	0	0	0	2776	1029	36	4	441	4	CCDC113	16	58292308	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216142	58292308	32062445	11694	35196											
CCDC113	29070	broad.mit.edu	37	chr16	58313629	58313629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcgtaaggcttggaatcGaatgaaaataaccaatgagc	16	8	9	8	2	0	2	0	2	0	0	2	4	0	3	2	2	2	2	2	2	7	3	rs146122026		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58313629G>A	ENST00000219299.4	+	9	1161	c.1082G>A	c.(1081-1083)cGa>cAa	p.R361Q	CCDC113_ENST00000443128.2_Missense_Mutation_p.R307Q	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	361						protein complex		p.R361Q(1)		large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						GCTTGGAATCGAATGAAAATA	0.413													A	58313629	G	A	58313629	3	1	364	1	0	0	0	0	1	0	0	0	2776	1058	37	1	1116	1	CCDC113	16	58313629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21321	58313629	32041124	11695	35197											
GINS3	64785	broad.mit.edu	37	chr16	58426548	58426548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggagtcgggtgcgctggggCctgaggagaactttctttct	5	12	16	8	2	2	2	0	1	2	1	3	4	2	3	1	5	2	1	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58426548C>T	ENST00000318129.5	+	1	251	c.43C>T	c.(43-45)Cct>Tct	p.P15S	GINS3_ENST00000426538.2_Missense_Mutation_p.P15S|GINS3_ENST00000328514.7_Missense_Mutation_p.P15S	NM_022770.3	NP_073607.2	Q9BRX5	PSF3_HUMAN	GINS complex subunit 3 (Psf3 homolog)	15	Not essential for folding and stability of GINS complex, but may regulate accessibility to the central complex pore.				DNA replication	nucleus				NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	7						TGCGCTGGGGCCTGAGGAGAA	0.597													T	58426548	C	T	58426548	3	4	364	1	0	0	0	0	1	0	0	0	6445	739	26	2	45	2	GINS3	16	58426548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112919	58426548	31928205	11696	35198											
NDRG4	65009	broad.mit.edu	37	chr16	58538058	58538058	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaagtgtgtctttgcagAcaaactatgcttcaacacct	11	12	9	9	0	2	1	1	0	1	1	2	2	2	2	1	1	4	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538058A>G	ENST00000394282.4	+	5	691	c.284A>G	c.(283-285)cAc>cGc	p.H95R	NDRG4_ENST00000562999.1_Splice_Site_p.H43R|NDRG4_ENST00000566192.1_Splice_Site_p.H43R|NDRG4_ENST00000394279.2_Splice_Site_p.H75R|NDRG4_ENST00000563799.1_Splice_Site_p.D61G|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Splice_Site_p.H75R|NDRG4_ENST00000356752.4_Splice_Site_p.H73R|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Splice_Site_p.H43R|NDRG4_ENST00000568640.1_Splice_Site_p.H61R	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	43					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						GTCTTTGCAGACAAACTATGC	0.577													G	58538058	A	G	58538058	5	3	364	1	0	0	0	0	0	0	1	0	10330	289	10	3	302	3	NDRG4	16	58538058	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	111510	58538058	31816695	11697	35199											
NDRG4	65009	broad.mit.edu	37	chr16	58538092	58538092	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccttcttcaacttcgaGgacatgcaggagatcaccaa	14	8	7	12	1	3	1	2	0	1	1	4	4	3	2	2	2	3	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538092G>T	ENST00000394282.4	+	5	725	c.318G>T	c.(316-318)gaG>gaT	p.E106D	NDRG4_ENST00000562999.1_Missense_Mutation_p.E54D|NDRG4_ENST00000566192.1_Missense_Mutation_p.E54D|NDRG4_ENST00000394279.2_Missense_Mutation_p.E86D|NDRG4_ENST00000563799.1_Missense_Mutation_p.E72D|NDRG4_ENST00000563022.1_3'UTR|NDRG4_ENST00000258187.5_Missense_Mutation_p.E86D|NDRG4_ENST00000356752.4_Missense_Mutation_p.E84D|NDRG4_ENST00000569923.1_5'UTR|NDRG4_ENST00000570248.1_Missense_Mutation_p.E54D|NDRG4_ENST00000568640.1_Missense_Mutation_p.E72D	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	54					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						TCAACTTCGAGGACATGCAGG	0.577													T	58538092	G	T	58538092	3	4	364	1	0	0	0	0	1	0	0	0	10330	991	35	4	336	4	NDRG4	16	58538092	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	58538092	31816661	11698	35200											
NDRG4	65009	broad.mit.edu	37	chr16	58538527	58538527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcatcggagtgggcgccGgagcctatgtgctggccaag	6	8	17	10	3	0	0	0	0	0	0	1	2	0	2	3	5	2	2	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58538527G>A	ENST00000394282.4	+	7	909	c.502G>A	c.(502-504)Gga>Aga	p.G168R	NDRG4_ENST00000562999.1_Missense_Mutation_p.G116R|NDRG4_ENST00000566192.1_Missense_Mutation_p.G116R|NDRG4_ENST00000394279.2_Missense_Mutation_p.G148R|NDRG4_ENST00000563799.1_Missense_Mutation_p.G134R|NDRG4_ENST00000258187.5_Missense_Mutation_p.G148R|NDRG4_ENST00000356752.4_Missense_Mutation_p.G146R|NDRG4_ENST00000569923.1_Missense_Mutation_p.G61R|NDRG4_ENST00000570248.1_Missense_Mutation_p.G116R|NDRG4_ENST00000568640.1_Missense_Mutation_p.G134R	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	116					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						AGTGGGCGCCGGAGCCTATGT	0.597													A	58538527	G	A	58538527	3	1	364	1	0	0	0	0	1	0	0	0	10330	1117	39	1	528	1	NDRG4	16	58538527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	435	58538527	31816226	11699	35201											
CNOT1	23019	broad.mit.edu	37	chr16	58559183	58559183	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccttgttgtggatgtgCgcaatggcctgagtcccgac	5	11	13	12	2	0	1	0	1	0	0	1	3	1	2	3	2	2	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559183C>T	ENST00000317147.5	-	46	7016	c.6684G>A	c.(6682-6684)gcG>gcA	p.A2228A	CNOT1_ENST00000569240.1_Silent_p.A2223A|CNOT1_ENST00000245138.4_Silent_p.A1079A	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2228					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol		p.A2228A(1)		breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTGGATGTGCGCAATGGCCT	0.493													T	58559183	C	T	58559183	2	4	364	1	0	0	0	0	0	0	0	1	3648	755	27	1		1	CNOT1	16	58559183	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20656	58559183	31795570	11700	35202											
CNOT1	23019	broad.mit.edu	37	chr16	58559985	58559985	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaactgaggtggcattaCtccagtgaaattggtgagaa	12	12	12	5	0	0	4	0	4	0	1	1	5	1	4	1	3	2	1	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58559985C>A	ENST00000317147.5	-	45	6843	c.6511G>T	c.(6511-6513)Gta>Tta	p.V2171L	CNOT1_ENST00000569240.1_Missense_Mutation_p.V2166L|CNOT1_ENST00000245138.4_Missense_Mutation_p.V1022L	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2171					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		GGTGGCATTACTCCAGTGAAA	0.413													A	58559985	C	A	58559985	3	1	364	1	0	0	0	0	1	0	0	0	3648	565	20	4	639	4	CNOT1	16	58559985	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	802	58559985	31794768	11701	35203											
CNOT1	23019	broad.mit.edu	37	chr16	58560003	58560003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccagtgaaattggtgaGaatccggggagcaatgttaa	13	10	12	6	1	0	2	0	2	0	1	2	4	2	3	2	3	2	2	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58560003G>T	ENST00000317147.5	-	45	6825	c.6493C>A	c.(6493-6495)Ctc>Atc	p.L2165I	CNOT1_ENST00000569240.1_Missense_Mutation_p.L2160I|CNOT1_ENST00000245138.4_Missense_Mutation_p.L1016I	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	2165					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAATTGGTGAGAATCCGGGGA	0.393													T	58560003	G	T	58560003	3	4	364	1	0	0	0	0	1	0	0	0	3648	942	33	4	657	4	CNOT1	16	58560003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18	58560003	31794750	11702	35204											
CNOT1	23019	broad.mit.edu	37	chr16	58575424	58575424	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcatgggctgggctaaaAatcccgtgggctgacttaag	9	10	12	10	1	1	1	1	1	0	0	2	1	2	1	2	3	0	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58575424A>C	ENST00000317147.5	-	34	5113	c.4781T>G	c.(4780-4782)tTt>tGt	p.F1594C	CNOT1_ENST00000569240.1_Missense_Mutation_p.F1589C|CNOT1_ENST00000245138.4_Missense_Mutation_p.F445C	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1594					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGGGCTAAAAATCCCGTGGG	0.383													C	58575424	A	C	58575424	3	2	364	1	0	0	0	0	1	0	0	0	3648	14	1	5	2413	5	CNOT1	16	58575424	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15421	58575424	31779329	11703	35205											
CNOT1	23019	broad.mit.edu	37	chr16	58576173	58576173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcatccgttcagcttgatAtgttaaaacaacaggatcac	13	11	8	9	1	2	1	2	1	0	0	3	2	3	2	1	2	3	4	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58576173A>G	ENST00000317147.5	-	33	4974	c.4642T>C	c.(4642-4644)Tat>Cat	p.Y1548H	CNOT1_ENST00000569240.1_Missense_Mutation_p.Y1543H|CNOT1_ENST00000245138.4_Missense_Mutation_p.Y399H	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1548					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TCAGCTTGATATGTTAAAACA	0.408													G	58576173	A	G	58576173	3	3	364	1	0	0	0	0	1	0	0	0	3648	449	16	3	2556	3	CNOT1	16	58576173	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	749	58576173	31778580	11704	35206											
CNOT1	23019	broad.mit.edu	37	chr16	58585554	58585554	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaaccgttttagcaacaGtggtagttgttgaggtggtt	8	14	13	6	2	0	1	0	1	0	0	0	1	0	1	2	3	3	7	2	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58585554G>T	ENST00000317147.5	-	23	3472	c.3140C>A	c.(3139-3141)aCt>aAt	p.T1047N	CNOT1_ENST00000569240.1_Missense_Mutation_p.T1042N|CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000441024.2_Missense_Mutation_p.T1047N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1047					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TTTAGCAACAGTGGTAGTTGT	0.473													T	58585554	G	T	58585554	3	4	364	1	0	0	0	0	1	0	0	0	3648	1029	36	4	4320	4	CNOT1	16	58585554	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9381	58585554	31769199	11705	35207											
CNOT1	23019	broad.mit.edu	37	chr16	58609021	58609021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatggagtaccatttagcaGcattgacaaggcctaaagga	16	8	10	7	0	0	1	0	1	0	0	0	3	0	3	2	3	3	3	2	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58609021G>T	ENST00000317147.5	-	15	2049	c.1717C>A	c.(1717-1719)Ctg>Atg	p.L573M	CNOT1_ENST00000569240.1_Missense_Mutation_p.L573M|CNOT1_ENST00000441024.2_Missense_Mutation_p.L573M	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	573					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CCATTTAGCAGCATTGACAAG	0.393													T	58609021	G	T	58609021	3	4	364	1	0	0	0	0	1	0	0	0	3648	962	34	4	5775	4	CNOT1	16	58609021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23467	58609021	31745732	11706	35208											
CNOT1	23019	broad.mit.edu	37	chr16	58614634	58614634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcaaaacagaagatctctgGatttataagggaatgttgaa	17	10	10	4	0	1	3	0	1	1	2	2	5	1	5	0	2	2	2	0	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58614634G>A	ENST00000317147.5	-	12	1578	c.1246C>T	c.(1246-1248)Cca>Tca	p.P416S	CNOT1_ENST00000569240.1_Missense_Mutation_p.P416S|CNOT1_ENST00000441024.2_Missense_Mutation_p.P416S	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	416					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		AAGATCTCTGGATTTATAAGG	0.378													A	58614634	G	A	58614634	3	1	364	1	0	0	0	0	1	0	0	0	3648	1174	41	2	6258	2	CNOT1	16	58614634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5613	58614634	31740119	11707	35209											
CNOT1	23019	broad.mit.edu	37	chr16	58621775	58621775	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgcacactcctgaatcagaAactgagtctttaaaaataaa	18	9	5	9	1	2	3	1	2	1	1	3	3	3	3	1	0	1	1	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:58621775A>T	ENST00000317147.5	-	4	550	c.218T>A	c.(217-219)tTt>tAt	p.F73Y	CNOT1_ENST00000569240.1_Missense_Mutation_p.F73Y|CNOT1_ENST00000441024.2_Missense_Mutation_p.F73Y	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	73					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CTGAATCAGAAACTGAGTCTT	0.348													T	58621775	A	T	58621775	3	4	364	1	0	0	0	0	1	0	0	0	3648	14	1	5	7318	5	CNOT1	16	58621775	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7141	58621775	31732978	11708	35210											
CDH11	1009	broad.mit.edu	37	chr16	65026832	65026832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtacctgtctgtgcttccAccgaaaaatagggttgtcct	9	12	9	11	1	1	0	0	0	1	0	3	1	3	0	4	1	2	3	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65026832A>G	ENST00000394156.3	-	5	1082	c.629T>C	c.(628-630)gTg>gCg	p.V210A	CDH11_ENST00000566827.1_Missense_Mutation_p.V84A|CDH11_ENST00000268603.4_Missense_Mutation_p.V210A			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	210	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		CTGTGCTTCCACCGAAAAATA	0.443			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			G	65026832	A	G	65026832	3	3	364	1	0	0	0	0	1	0	0	0	3127	159	6	3	1797	3	CDH11	16	65026832	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6405057	65026832	25327921	11709	35211											
CDH11	1009	broad.mit.edu	37	chr16	65032517	65032517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtctcgtgcaggaactcCggagggttgtcattaatgtc	8	12	13	8	2	2	0	1	0	1	0	5	2	3	2	1	4	2	2	1	4	3	3	rs138088413	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65032517C>T	ENST00000394156.3	-	4	924	c.471G>A	c.(469-471)ccG>ccA	p.P157P	CDH11_ENST00000566827.1_Silent_p.P31P|CDH11_ENST00000268603.4_Silent_p.P157P			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	157	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	p.P157P(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCAGGAACTCCGGAGGGTTGT	0.582			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			T	65032517	C	T	65032517	2	4	364	1	0	0	0	0	0	0	0	1	3127	639	23	1		1	CDH11	16	65032517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5685	65032517	25322236	11710	35212											
CDH11	1009	broad.mit.edu	37	chr16	65038691	65038691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggccgcaggtgcccccGccgctctggggcaaaggcat	6	4	17	14	3	1	0	0	0	1	0	1	1	1	1	4	6	1	4	4	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:65038691G>A	ENST00000394156.3	-	3	535	c.82C>T	c.(82-84)Cgg>Tgg	p.R28W	CDH11_ENST00000566827.1_Intron|CDH11_ENST00000569624.1_5'UTR|CDH11_ENST00000268603.4_Missense_Mutation_p.R28W			P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	28					adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		AGGTGCCCCCGCCGCTCTGGG	0.612			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)			A	65038691	G	A	65038691	3	1	364	1	0	0	0	0	1	0	0	0	3127	1086	38	1	2352	1	CDH11	16	65038691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6174	65038691	25316062	11711	35213											
CDH5	1003	broad.mit.edu	37	chr16	66436740	66436740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggggccaagcccccgCggcccgcgctggacgcccgg	3	1	18	19	8	0	0	0	0	0	0	0	1	0	1	5	6	1	1	5	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66436740C>T	ENST00000341529.3	+	12	2171	c.2023C>T	c.(2023-2025)Cgg>Tgg	p.R675W	CDH5_ENST00000539168.1_Missense_Mutation_p.R114W	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	675					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		caagcccccgcggcccgcgcT	0.726													T	66436740	C	T	66436740	3	4	364	1	0	0	0	0	1	0	0	0	3143	759	27	1	2065	1	CDH5	16	66436740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1398049	66436740	23918013	11712	35214											
TK2	7084	broad.mit.edu	37	chr16	66551710	66551710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctatcaaatcaacagacaCgtccatgttcctcaagatcc	14	9	4	14	1	3	2	3	0	0	2	6	2	6	2	4	0	1	1	4	0	4	2	rs149036717	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66551710C>T	ENST00000299697.7	-	7	870	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TK2_ENST00000545043.2_Missense_Mutation_p.V149M|TK2_ENST00000564917.1_Missense_Mutation_p.V174M|TK2_ENST00000417693.3_Missense_Mutation_p.V156M|TK2_ENST00000525974.1_Missense_Mutation_p.V77M|TK2_ENST00000544898.1_Missense_Mutation_p.V125M|TK2_ENST00000451102.2_Missense_Mutation_p.V174M|TK2_ENST00000527284.1_Missense_Mutation_p.V143M|TK2_ENST00000563369.2_Missense_Mutation_p.V77M|TK2_ENST00000527800.1_Missense_Mutation_p.V77M	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	174					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		TCAACAGACACGTCCATGTTC	0.517													T	66551710	C	T	66551710	3	4	364	1	0	0	0	0	1	0	0	0	16033	536	19	1	293	1	TK2	16	66551710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114970	66551710	23803043	11713	35215											
TK2	7084	broad.mit.edu	37	chr16	66575796	66575796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacctcgacgtctgtcgCgttggagaagaattccaggc	8	10	12	11	4	1	2	0	0	1	2	4	4	2	2	2	2	1	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66575796C>T	ENST00000299697.7	-	3	567	c.343G>A	c.(343-345)Gcg>Acg	p.A115T	TK2_ENST00000545043.2_Intron|TK2_ENST00000564917.1_Missense_Mutation_p.A73T|TK2_ENST00000417693.3_Missense_Mutation_p.A73T|TK2_ENST00000525974.1_5'UTR|TK2_ENST00000544898.1_Missense_Mutation_p.A24T|TK2_ENST00000451102.2_Missense_Mutation_p.A73T|TK2_ENST00000527284.1_Missense_Mutation_p.A42T|TK2_ENST00000563369.2_5'UTR|TK2_ENST00000527800.1_5'UTR	NM_001172644.1|NM_001172645.1|NM_001271934.1|NM_001271935.1|NM_001272050.1|NM_004614.4	NP_001166115.1|NP_001166116.1|NP_001258863.1|NP_001258864.1|NP_001258979.1|NP_004605.4	O00142	KITM_HUMAN	thymidine kinase 2, mitochondrial	73					pyrimidine base metabolic process|pyrimidine nucleoside salvage	mitochondrial matrix	ATP binding|phosphotransferase activity, alcohol group as acceptor|thymidine kinase activity			large_intestine(1)|lung(2)|urinary_tract(1)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0736)|Epithelial(162;0.237)		ACGTCTGTCGCGTTGGAGAAG	0.473													T	66575796	C	T	66575796	3	4	364	1	0	0	0	0	1	0	0	0	16033	768	27	1	612	1	TK2	16	66575796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24086	66575796	23778957	11714	35216											
CKLF	51192	broad.mit.edu	37	chr16	66599866	66599866	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcttctgttcaatcccagCggtccttaccagaaaaagcc	12	9	7	13	1	2	1	1	0	1	1	4	1	4	1	4	1	4	2	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66599866C>T	ENST00000264001.4	+	4	560	c.411C>T	c.(409-411)agC>agT	p.S137S	CKLF_ENST00000362093.4_Silent_p.S52S|CKLF-CMTM1_ENST00000532838.1_Intron|CKLF_ENST00000417030.2_Intron|CKLF_ENST00000351137.4_Silent_p.S84S|CKLF-CMTM1_ENST00000527729.1_Intron|CKLF_ENST00000563092.1_3'UTR|CKLF_ENST00000345436.4_Silent_p.S105S	NM_016951.3	NP_058647.1			chemokine-like factor											endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|upper_aerodigestive_tract(1)	5		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0689)|Epithelial(162;0.217)		TCAATCCCAGCGGTCCTTACC	0.383													T	66599866	C	T	66599866	2	4	364	1	0	0	0	0	0	0	0	1	3478	767	27	1		1	CKLF	16	66599866	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24070	66599866	23754887	11715	35217											
CMTM1	113540	broad.mit.edu	37	chr16	66600582	66600582	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccggaagcaccccgcaGtctcaattcgcagtgcgcag	9	5	10	17	4	1	0	1	0	1	0	3	1	1	1	4	1	2	4	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66600582G>T	ENST00000379500.2	+	1	233	c.166G>T	c.(166-168)Gtc>Ttc	p.V56F	CMTM1_ENST00000533666.1_Intron|CMTM1_ENST00000457188.2_Intron|CMTM1_ENST00000529506.1_Intron|CMTM1_ENST00000528324.1_Intron|CMTM1_ENST00000535705.1_Intron|CMTM1_ENST00000332695.7_Intron|CMTM1_ENST00000336328.6_Intron|CMTM1_ENST00000531885.1_Intron|CMTM1_ENST00000533953.1_Missense_Mutation_p.V56F|CKLF-CMTM1_ENST00000527729.1_Intron|CMTM1_ENST00000328020.6_Missense_Mutation_p.V56F	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	0	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GCACCCCGCAGTCTCAATTCG	0.657													T	66600582	G	T	66600582	3	4	364	1	0	0	0	0	1	0	0	0	3613	1029	36	4	168	4	CMTM1	16	66600582	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	716	66600582	23754171	11716	35218											
CMTM4	146223	broad.mit.edu	37	chr16	66657318	66657318	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgcttaccacggcagcaaTttctgctccggctctatggt	6	14	9	12	2	2	0	0	0	2	0	3	0	3	0	2	3	4	5	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66657318T>G	ENST00000330687.4	-	3	632	c.451A>C	c.(451-453)Att>Ctt	p.I151L	CMTM4_ENST00000563952.1_Missense_Mutation_p.I122L|CMTM4_ENST00000394106.2_Missense_Mutation_p.I151L	NM_178818.2|NM_181521.2	NP_848933.1|NP_852662.1	Q8IZR5	CKLF4_HUMAN	CKLF-like MARVEL transmembrane domain containing 4	151	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			cervix(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0811)|Epithelial(162;0.214)		ACGGCAGCAATTTCTGCTCCG	0.507													G	66657318	T	G	66657318	3	3	364	1	0	0	0	0	1	0	0	0	3616	1493	52	5	269	5	CMTM4	16	66657318	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56736	66657318	23697435	11717	35219											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66757651	66757651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattttctgttgaagagtTtgttaccatagagtctggct	8	18	9	6	0	3	3	1	1	2	2	3	3	3	3	1	1	1	4	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66757651T>C	ENST00000258198.2	-	13	1659	c.1453A>G	c.(1453-1455)Aac>Gac	p.N485D	DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Missense_Mutation_p.N408D	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	485					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTTGAAGAGTTTGTTACCATA	0.353													C	66757651	T	C	66757651	3	2	364	1	0	0	0	0	1	0	0	0	4884	1841	64	3	29	3	DYNC1LI2	16	66757651	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100333	66757651	23597102	11718	35220											
DYNC1LI2	1783	broad.mit.edu	37	chr16	66762943	66762943	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctcactggtcttcttacCtgttgcttcattaggaacac	9	14	6	12	0	4	0	2	0	2	0	4	1	4	1	2	2	4	2	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66762943C>A	ENST00000258198.2	-	9	1307	c.1101G>T	c.(1099-1101)caG>caT	p.Q367H	DYNC1LI2_ENST00000570201.1_5'UTR|DYNC1LI2_ENST00000379482.2_Intron|RP11-63M22.2_ENST00000569274.1_RNA|DYNC1LI2_ENST00000443351.2_Splice_Site_p.Q290H	NM_006141.2	NP_006132.1	O43237	DC1L2_HUMAN	dynein, cytoplasmic 1, light intermediate chain 2	367					transport	centrosome|cytoplasmic dynein complex|microtubule	ATP binding|motor activity			central_nervous_system(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(4)|stomach(1)	15		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0907)|Epithelial(162;0.212)		GTCTTCTTACCTGTTGCTTCA	0.498											OREG0023862	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	66762943	C	A	66762943	5	1	364	1	0	0	0	0	0	0	1	0	4884	695	24	4	397	4	DYNC1LI2	16	66762943	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5292	66762943	23591810	11719	35221											
NAE1	8883	broad.mit.edu	37	chr16	66842453	66842453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccctgttgtttatgaaatCtatcaacagcccgtaacatt	12	14	5	10	1	2	1	1	1	1	0	2	1	2	1	2	0	4	3	2	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66842453C>A	ENST00000379463.2	-	18	1475	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I	NAE1_ENST00000359087.4_Missense_Mutation_p.R437I|NAE1_ENST00000394074.2_Missense_Mutation_p.R345I|NAE1_ENST00000290810.3_Missense_Mutation_p.R434I	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	434					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TTTATGAAATCTATCAACAGC	0.289													A	66842453	C	A	66842453	3	1	364	1	0	0	0	0	1	0	0	0	10215	913	32	4	319	4	NAE1	16	66842453	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79510	66842453	23512300	11720	35222											
CA7	766	broad.mit.edu	37	chr16	66886638	66886638	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accaaagcccagttcagctgCttcaaccccaagtgcctcct	10	8	6	17	0	2	0	2	0	0	0	3	0	3	0	6	0	5	3	6	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66886638C>T	ENST00000394069.3	+	6	803	c.372C>T	c.(370-372)tgC>tgT	p.C124C	RP11-61A14.1_ENST00000551187.1_RNA|CA7_ENST00000338437.2_Silent_p.C180C	NM_001014435.1	NP_001014435.1	P43166	CAH7_HUMAN	carbonic anhydrase VII	180					one-carbon metabolic process	cytoplasm	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(4)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGTTCAGCTGCTTCAACCCCA	0.592													T	66886638	C	T	66886638	2	4	364	1	0	0	0	0	0	0	0	1	2548	805	28	2		2	CA7	16	66886638	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44185	66886638	23468115	11721	35223											
PDP2	57546	broad.mit.edu	37	chr16	66918675	66918675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttctactatgtggcagtgtCcctgatgtcccaccagaccc	7	11	8	15	0	1	2	0	1	1	1	3	2	3	2	4	1	1	1	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66918675C>T	ENST00000311765.2	+	2	822	c.488C>T	c.(487-489)tCc>tTc	p.S163F	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	163					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		GTGGCAGTGTCCCTGATGTCC	0.547													T	66918675	C	T	66918675	3	4	364	1	0	0	0	0	1	0	0	0	11762	855	30	2	490	2	PDP2	16	66918675	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32037	66918675	23436078	11722	35224											
RRAD	6236	broad.mit.edu	37	chr16	66956204	66956204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacattgtggtgcaatgcCgctgatgtctcaatgaactt	9	13	11	8	1	1	2	1	2	1	0	2	3	1	3	1	2	3	2	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66956204C>T	ENST00000299759.6	-	5	952	c.702G>A	c.(700-702)gcG>gcA	p.A234A	RRAD_ENST00000420652.1_Silent_p.A234A			P55042	RAD_HUMAN	Ras-related associated with diabetes	234					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		GGTGCAATGCCGCTGATGTCT	0.592													T	66956204	C	T	66956204	2	4	364	1	0	0	0	0	0	0	0	1	13762	639	23	1		1	RRAD	16	66956204	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37529	66956204	23398549	11723	35225											
CES2	8824	broad.mit.edu	37	chr16	66974239	66974239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcatcatccagtaccgcctgGgtgtcctgggcttcttcagg	5	12	11	13	1	4	0	3	0	1	0	6	0	6	0	4	3	1	2	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66974239G>A	ENST00000317091.4	+	4	1714	c.730G>A	c.(730-732)Ggt>Agt	p.G244S	CES2_ENST00000417689.1_Missense_Mutation_p.G244S	NM_003869.5	NP_003860.2	O00748	EST2_HUMAN	carboxylesterase 2	180					catabolic process	endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0663)|Epithelial(162;0.166)		GTACCGCCTGGGTGTCCTGGG	0.607													A	66974239	G	A	66974239	3	1	364	1	0	0	0	0	1	0	0	0	3300	1232	43	2	744	2	CES2	16	66974239	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18035	66974239	23380514	11724	35226											
CES3	23491	broad.mit.edu	37	chr16	66997236	66997236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccggttctcagccccacaCccagcacagccctgggaggg	8	4	12	17	1	1	0	1	0	1	0	2	2	1	1	5	3	3	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:66997236C>T	ENST00000303334.4	+	2	308	c.237C>T	c.(235-237)caC>caT	p.H79H	CES3_ENST00000394037.1_Silent_p.H79H	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	79						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAGCCCCACACCCAGCACAGC	0.642													T	66997236	C	T	66997236	2	4	364	1	0	0	0	0	0	0	0	1	3301	506	18	2		2	CES3	16	66997236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22997	66997236	23357517	11725	35227											
CES3	23491	broad.mit.edu	37	chr16	67005218	67005218	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagtttttcaagatacctTcgaggtaagcctgtccctgg	8	13	10	10	1	2	1	2	0	0	1	4	2	3	1	3	2	2	2	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67005218T>C	ENST00000303334.4	+	10	1358	c.1287T>C	c.(1285-1287)ctT>ctC	p.L429L	CES3_ENST00000394037.1_Silent_p.L429L|CES3_ENST00000543856.1_Silent_p.L68L	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	429						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CAAGATACCTTCGAGGTAAGC	0.552													C	67005218	T	C	67005218	2	2	364	1	0	0	0	0	0	0	0	1	3301	1770	62	3		3	CES3	16	67005218	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7982	67005218	23349535	11726	35228											
C16orf70	80262	broad.mit.edu	37	chr16	67154083	67154083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaaaaacgtccaggttCtctacagtgaacaggtgagt	13	10	9	9	1	3	2	2	2	1	0	5	2	4	2	1	2	3	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67154083C>A	ENST00000219139.3	+	2	321	c.133C>A	c.(133-135)Ctc>Atc	p.L45I	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.L45I	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	45										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		CGTCCAGGTTCTCTACAGTGA	0.463													A	67154083	C	A	67154083	3	1	364	1	0	0	0	0	1	0	0	0	1843	913	32	4	139	4	C16orf70	16	67154083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148865	67154083	23200670	11727	35229											
HSF4	3299	broad.mit.edu	37	chr16	67201093	67201093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctgccctctacctggtGcccttctgcaggacccctac	6	9	7	19	0	2	0	0	0	2	0	2	1	2	1	6	2	5	1	6	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67201093G>A	ENST00000264009.8	+	9	1662	c.697G>A	c.(697-699)Gcc>Acc	p.A233T	HSF4_ENST00000584272.1_Missense_Mutation_p.A233T|HSF4_ENST00000521374.1_Missense_Mutation_p.A233T|HSF4_ENST00000517867.1_3'UTR|HSF4_ENST00000421453.1_Missense_Mutation_p.A233T	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	233					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		TCTACCTGGTGCCCTTCTGCA	0.597													A	67201093	G	A	67201093	3	1	364	1	0	0	0	0	1	0	0	0	7453	1319	46	2	723	2	HSF4	16	67201093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47010	67201093	23153660	11728	35230											
FHOD1	29109	broad.mit.edu	37	chr16	67264291	67264291	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgctgctgtagcactcGttcccggcaagtccgatact	6	11	10	14	3	0	0	0	0	0	0	3	1	2	0	2	1	5	7	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67264291G>A	ENST00000258201.4	-	19	3224	c.2977C>T	c.(2977-2979)Cga>Tga	p.R993*		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	993	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	p.R993R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGTAGCACTCGTTCCCGGCAA	0.612													A	67264291	G	A	67264291	4	1	364	1	0	0	0	0	0	1	0	0	5931	1153	40	1	533	1	FHOD1	16	67264291	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63198	67264291	23090462	11729	35231											
FHOD1	29109	broad.mit.edu	37	chr16	67272032	67272032	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcagctggccgagcgCtggggaaacagggatgggca	10	4	18	9	2	1	0	1	0	0	0	1	4	1	2	1	5	4	4	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272032C>A	ENST00000258201.4	-	6	795		c.e6-1			NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1						actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TGGCCGAGCGCTGGGGAAACA	0.592													A	67272032	C	A	67272032	5	1	364	1	0	0	0	0	0	0	1	0	5931	811	28	4	3015	4	FHOD1	16	67272032	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7741	67272032	23082721	11730	35232											
FHOD1	29109	broad.mit.edu	37	chr16	67272337	67272337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagctcaggaccactggaGctatacagcttttctgcaaa	11	9	10	11	1	2	0	1	0	1	0	2	3	2	3	1	3	5	4	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67272337G>A	ENST00000258201.4	-	4	634	c.387C>T	c.(385-387)agC>agT	p.S129S		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	129	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GACCACTGGAGCTATACAGCT	0.532													A	67272337	G	A	67272337	2	1	364	1	0	0	0	0	0	0	0	1	5931	962	34	2		2	FHOD1	16	67272337	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	305	67272337	23082416	11731	35233											
SLC9A5	6553	broad.mit.edu	37	chr16	67286472	67286472	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctcggaaagtaacatCtctggtccctgagagctgcc	8	10	10	13	1	2	1	0	1	2	1	5	3	3	2	3	2	3	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67286472C>A	ENST00000299798.11	+	2	280	c.215C>A	c.(214-216)tCt>tAt	p.S72Y	SLC9A5_ENST00000561472.2_Intron	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	72					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AAAGTAACATCTCTGGTCCCT	0.517													A	67286472	C	A	67286472	3	1	364	1	0	0	0	0	1	0	0	0	14811	913	32	4	221	4	SLC9A5	16	67286472	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14135	67286472	23068281	11732	35234											
SLC9A5	6553	broad.mit.edu	37	chr16	67292254	67292254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaagaaatacctgagtcaGctgctgatgcgacgatcagc	13	7	11	10	2	2	3	2	2	0	1	2	6	2	3	1	0	5	2	1	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67292254G>A	ENST00000299798.11	+	10	1595	c.1530G>A	c.(1528-1530)caG>caA	p.Q510Q		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	510					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		ACCTGAGTCAGCTGCTGATGC	0.587													A	67292254	G	A	67292254	2	1	364	1	0	0	0	0	0	0	0	1	14811	962	34	2		2	SLC9A5	16	67292254	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5782	67292254	23062499	11733	35235											
SLC9A5	6553	broad.mit.edu	37	chr16	67305108	67305108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcaacagaggcagccggCtgtagctcaaggcctcgggg	9	6	15	11	2	2	1	2	0	0	1	3	1	2	1	2	5	3	5	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67305108C>A	ENST00000299798.11	+	16	2751	c.2686C>A	c.(2686-2688)Ctg>Atg	p.L896M		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	896					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		AGGCAGCCGGCTGTAGCTCAA	0.627													A	67305108	C	A	67305108	3	1	364	1	0	0	0	0	1	0	0	0	14811	796	28	4	2748	4	SLC9A5	16	67305108	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12854	67305108	23049645	11734	35236											
PLEKHG4	25894	broad.mit.edu	37	chr16	67314868	67314868	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtctgagtgcagcagccagGaactcatccgcctcctgctg	8	8	11	14	1	2	1	1	1	1	0	4	2	4	2	4	1	5	3	4	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67314868G>T	ENST00000360461.5	+	3	3214	c.679G>T	c.(679-681)Gaa>Taa	p.E227*	PLEKHG4_ENST00000427155.2_Nonsense_Mutation_p.E227*|PLEKHG4_ENST00000450733.1_Nonsense_Mutation_p.E146*|PLEKHG4_ENST00000379344.3_Nonsense_Mutation_p.E227*	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	227					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGCAGCCAGGAACTCATCCG	0.632													T	67314868	G	T	67314868	4	4	364	1	0	0	0	0	0	1	0	0	12148	1175	41	4	689	4	PLEKHG4	16	67314868	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9760	67314868	23039885	11735	35237											
PLEKHG4	25894	broad.mit.edu	37	chr16	67318663	67318663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagtgttggcagagctggaGcaggaacgcccgggggttgt	7	7	19	8	3	0	1	0	0	0	1	0	4	0	3	1	5	3	5	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67318663G>A	ENST00000360461.5	+	12	4275	c.1740G>A	c.(1738-1740)gaG>gaA	p.E580E	PLEKHG4_ENST00000427155.2_Silent_p.E580E|PLEKHG4_ENST00000450733.1_Silent_p.E499E|PLEKHG4_ENST00000379344.3_Silent_p.E580E	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	580					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		CAGAGCTGGAGCAGGAACGCC	0.632													A	67318663	G	A	67318663	2	1	364	1	0	0	0	0	0	0	0	1	12148	962	34	2		2	PLEKHG4	16	67318663	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3795	67318663	23036090	11736	35238											
PLEKHG4	25894	broad.mit.edu	37	chr16	67319222	67319222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctggcagagatggtggCcacggagcgggagtatgtcc	7	7	19	8	2	0	1	0	0	0	1	1	4	1	3	2	6	2	3	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67319222C>A	ENST00000360461.5	+	13	4760	c.2225C>A	c.(2224-2226)gCc>gAc	p.A742D	PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A742D|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A661D|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A742D	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	742	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GAGATGGTGGCCACGGAGCGG	0.622													A	67319222	C	A	67319222	3	1	364	1	0	0	0	0	1	0	0	0	12148	739	26	4	2275	4	PLEKHG4	16	67319222	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559	67319222	23035531	11737	35239											
PLEKHG4	25894	broad.mit.edu	37	chr16	67322137	67322137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctctacctgggggcctcGaactcccttcctggagaccc	6	8	10	17	1	1	1	0	0	1	1	4	3	3	1	6	3	3	0	6	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67322137G>A	ENST00000360461.5	+	19	5823	c.3288G>A	c.(3286-3288)tcG>tcA	p.S1096S	PLEKHG4_ENST00000427155.2_Silent_p.S1096S|PLEKHG4_ENST00000450733.1_Silent_p.S1015S|PLEKHG4_ENST00000379344.3_Silent_p.S1096S	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	1096					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGGGCCTCGAACTCCCTTC	0.607													A	67322137	G	A	67322137	2	1	364	1	0	0	0	0	0	0	0	1	12148	1045	37	1		1	PLEKHG4	16	67322137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2915	67322137	23032616	11738	35240											
KCTD19	146212	broad.mit.edu	37	chr16	67325309	67325309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagccaggaagcagtgaCatttctgtgcataaaacatc	13	10	9	9	0	2	1	1	1	1	0	3	2	2	2	1	1	4	2	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67325309C>T	ENST00000304372.5	-	14	2523	c.2468G>A	c.(2467-2469)tGt>tAt	p.C823Y		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	823						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		GAAGCAGTGACATTTCTGTGC	0.507													T	67325309	C	T	67325309	3	4	364	1	0	0	0	0	1	0	0	0	8164	478	17	2	324	2	KCTD19	16	67325309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3172	67325309	23029444	11739	35241											
LRRC36	55282	broad.mit.edu	37	chr16	67401011	67401011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttttttggacaataaGtcttcaggttcttctccaga	9	17	7	8	0	5	1	1	0	4	1	6	2	5	2	1	2	0	2	1	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67401011G>A	ENST00000329956.6	+	8	865	c.846G>A	c.(844-846)aaG>aaA	p.K282K	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000563189.1_Silent_p.K161K|LRRC36_ENST00000435835.3_Silent_p.K161K|LRRC36_ENST00000290940.7_Silent_p.K14K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	282										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		TGGACAATAAGTCTTCAGGTT	0.433													A	67401011	G	A	67401011	2	1	364	1	0	0	0	0	0	0	0	1	9060	1020	36	2		2	LRRC36	16	67401011	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75702	67401011	22953742	11740	35242											
FAM65A	79567	broad.mit.edu	37	chr16	67572650	67572650	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgtccaggatgttttcCgtggctcacccagccgccaa	7	9	11	14	3	1	0	1	0	0	0	3	2	3	1	5	2	1	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67572650C>T	ENST00000540839.3	+	4	460	c.240C>T	c.(238-240)tcC>tcT	p.S80S	FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000422602.2_Silent_p.S80S|FAM65A_ENST00000042381.4_Silent_p.S60S|CTD-2012K14.2_ENST00000567122.1_RNA|FAM65A_ENST00000428437.2_Silent_p.S74S|FAM65A_ENST00000379312.3_Silent_p.S64S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	64						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGATGTTTTCCGTGGCTCACC	0.677													T	67572650	C	T	67572650	2	4	364	1	0	0	0	0	0	0	0	1	5649	639	23	1		1	FAM65A	16	67572650	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	171639	67572650	22782103	11741	35243											
FAM65A	79567	broad.mit.edu	37	chr16	67578270	67578270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccgccccctcagcaCggggtgtccagctctggatg	5	7	13	16	2	2	0	1	0	1	0	3	1	3	1	4	3	3	2	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67578270C>T	ENST00000540839.3	+	16	2946	c.2726C>T	c.(2725-2727)aCg>aTg	p.T909M	FAM65A_ENST00000422602.2_Missense_Mutation_p.T910M|FAM65A_ENST00000042381.4_Missense_Mutation_p.T890M|FAM65A_ENST00000428437.2_Missense_Mutation_p.T904M|FAM65A_ENST00000379312.3_Missense_Mutation_p.T894M			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	894						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCCCTCAGCACGGGGTGTCCA	0.642													T	67578270	C	T	67578270	3	4	364	1	0	0	0	0	1	0	0	0	5649	536	19	1	2723	1	FAM65A	16	67578270	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5620	67578270	22776483	11742	35244											
FAM65A	79567	broad.mit.edu	37	chr16	67579727	67579727	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgctgtcagcacccagctCcggagcctgtcactgggccc	5	7	12	17	1	2	0	2	0	0	0	3	1	3	1	4	2	4	4	4	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67579727C>T	ENST00000540839.3	+	20	3628	c.3408C>T	c.(3406-3408)ctC>ctT	p.L1136L	FAM65A_ENST00000422602.2_Silent_p.L1137L|FAM65A_ENST00000042381.4_Silent_p.L1117L|FAM65A_ENST00000428437.2_Silent_p.L1131L|FAM65A_ENST00000379312.3_Silent_p.L1121L			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	1121						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GCACCCAGCTCCGGAGCCTGT	0.672													T	67579727	C	T	67579727	2	4	364	1	0	0	0	0	0	0	0	1	5649	842	30	2		2	FAM65A	16	67579727	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1457	67579727	22775026	11743	35245											
RLTPR	146206	broad.mit.edu	37	chr16	67682846	67682846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttagtgtgcgacgcaggCgctgtgagctccctggatct	6	10	14	11	3	1	1	0	1	1	0	2	4	2	2	1	2	2	3	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67682846C>T	ENST00000334583.6	+	17	1888	c.1560C>T	c.(1558-1560)ggC>ggT	p.G520G	RLTPR_ENST00000545661.1_Silent_p.G484G	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	520										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		GCGACGCAGGCGCTGTGAGCT	0.627													T	67682846	C	T	67682846	2	4	364	1	0	0	0	0	0	0	0	1	13485	755	27	1		1	RLTPR	16	67682846	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103119	67682846	22671907	11744	35246											
RLTPR	146206	broad.mit.edu	37	chr16	67690161	67690161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagttccacggaggcccCtcccatctcgatcaagtccc	8	7	9	17	2	2	0	1	0	1	0	6	3	5	2	5	3	0	1	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67690161C>A	ENST00000334583.6	+	34	4101	c.3773C>A	c.(3772-3774)cCt>cAt	p.P1258H	RLTPR_ENST00000545661.1_Missense_Mutation_p.P1222H	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1258										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		ACGGAGGCCCCTCCCATCTCG	0.602													A	67690161	C	A	67690161	3	1	364	1	0	0	0	0	1	0	0	0	13485	681	24	4	3907	4	RLTPR	16	67690161	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7315	67690161	22664592	11745	35247											
ACD	65057	broad.mit.edu	37	chr16	67691948	67691948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcctgggaaaaggcggccGattcttgcagggcaacccta	9	7	14	11	2	1	0	0	0	1	0	2	2	2	1	3	5	2	2	3	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67691948G>A	ENST00000219251.8	-	10	1727	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	ACD_ENST00000393919.4_Missense_Mutation_p.R469W	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	469					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AAAGGCGGCCGATTCTTGCAG	0.607													A	67691948	G	A	67691948	3	1	364	1	0	0	0	0	1	0	0	0	135	1057	37	1	241	1	ACD	16	67691948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1787	67691948	22662805	11746	35248											
ACD	65057	broad.mit.edu	37	chr16	67692112	67692112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggctggcgtgtggggacctgGgggtcagggtggcaggggct	3	7	24	7	1	1	0	1	0	0	0	1	1	1	1	1	10	0	3	1	10	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67692112G>T	ENST00000219251.8	-	10	1563	c.1232C>A	c.(1231-1233)cCc>cAc	p.P411H	ACD_ENST00000393919.4_Missense_Mutation_p.P414H	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	414	Ser-rich.				intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TGGGGACCTGGGGGTCAGGGT	0.667													T	67692112	G	T	67692112	3	4	364	1	0	0	0	0	1	0	0	0	135	1232	43	4	405	4	ACD	16	67692112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	164	67692112	22662641	11747	35249											
PARD6A	50855	broad.mit.edu	37	chr16	67696030	67696030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccctgggcttctacatccGagatggcatgagcgtgcgtg	6	9	13	13	3	1	2	0	1	1	1	2	3	2	2	3	2	3	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67696030G>A	ENST00000458121.2	+	3	609	c.518G>A	c.(517-519)cGa>cAa	p.R173Q	PARD6A_ENST00000602551.1_Missense_Mutation_p.R144Q|PARD6A_ENST00000219255.3_Missense_Mutation_p.R174Q	NM_001037281.1|NM_016948.2	NP_001032358.1|NP_058644.1	Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	174	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|cell-cell junction maintenance|tight junction assembly|viral reproduction	cytosol|nucleus|ruffle|tight junction	GTP-dependent protein binding|Rho GTPase binding|transcription factor binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		TTCTACATCCGAGATGGCATG	0.627													A	67696030	G	A	67696030	3	1	364	1	0	0	0	0	1	0	0	0	11521	1058	37	1	531	1	PARD6A	16	67696030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3918	67696030	22658723	11748	35250											
RANBP10	57610	broad.mit.edu	37	chr16	67805960	67805960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagtctgttcatgttgacgCcttgagccgagagtcctatt	8	13	11	9	2	2	3	1	2	1	1	3	5	3	3	3	0	1	2	3	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67805960C>T	ENST00000317506.3	-	3	492	c.377G>A	c.(376-378)gGc>gAc	p.G126D	RANBP10_ENST00000425512.2_Intron|RANBP10_ENST00000536251.1_5'UTR|RANBP10_ENST00000602887.1_5'UTR|RANBP10_ENST00000602677.1_Missense_Mutation_p.G126D|RANBP10_ENST00000448631.2_Missense_Mutation_p.G126D|RANBP10_ENST00000411657.2_Missense_Mutation_p.G9D	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	126	B30.2/SPRY.									endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		CATGTTGACGCCTTGAGCCGA	0.408													T	67805960	C	T	67805960	3	4	364	1	0	0	0	0	1	0	0	0	13114	739	26	2	1533	2	RANBP10	16	67805960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109930	67805960	22548793	11749	35251											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67858679	67858679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagatttcattgcagagCgaggtgaatggaagtggtgt	12	10	16	3	1	1	4	1	1	0	3	1	7	1	5	0	3	2	1	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67858679C>T	ENST00000388833.3	+	6	890	c.513C>T	c.(511-513)agC>agT	p.S171S	TSNAXIP1_ENST00000562321.1_Intron|TSNAXIP1_ENST00000561639.1_Silent_p.S225S|TSNAXIP1_ENST00000415766.3_Silent_p.S156S	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	171					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CATTGCAGAGCGAGGTGAATG	0.478													T	67858679	C	T	67858679	2	4	364	1	0	0	0	0	0	0	0	1	16733	767	27	1		1	TSNAXIP1	16	67858679	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52719	67858679	22496074	11750	35252											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860697	67860697	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgaaaatatcaagatcTtccactccaacgaggttatg	13	14	6	8	1	2	2	1	1	1	1	4	3	4	2	2	1	1	1	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67860697T>G	ENST00000388833.3	+	12	1719	c.1342T>G	c.(1342-1344)Ttc>Gtc	p.F448V	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.F502V|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.F433V	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	448					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		TATCAAGATCTTCCACTCCAA	0.488													G	67860697	T	G	67860697	3	3	364	1	0	0	0	0	1	0	0	0	16733	1609	56	5	1380	5	TSNAXIP1	16	67860697	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2018	67860697	22494056	11751	35253											
EDC4	23644	broad.mit.edu	37	chr16	67914878	67914878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattactcgtgagacctgcaGcaccctggcagaaaggtgag	11	7	12	11	1	0	3	0	2	0	2	1	4	0	3	2	2	3	3	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67914878G>A	ENST00000358933.5	+	18	2755	c.2516G>A	c.(2515-2517)aGc>aAc	p.S839N		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	839					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GAGACCTGCAGCACCCTGGCA	0.582													A	67914878	G	A	67914878	3	1	364	1	0	0	0	0	1	0	0	0	4947	971	34	2	2586	2	EDC4	16	67914878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54181	67914878	22439875	11752	35254											
PSKH1	5681	broad.mit.edu	37	chr16	67943504	67943504	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacatgtgggcgctgggCgtcattgcctacatcctact	6	11	13	11	2	1	0	1	0	0	0	2	1	2	1	2	3	3	1	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67943504C>T	ENST00000291041.5	+	2	1022	c.852C>T	c.(850-852)ggC>ggT	p.G284G		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	284	Protein kinase.					endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		GGGCGCTGGGCGTCATTGCCT	0.567													T	67943504	C	T	67943504	2	4	364	1	0	0	0	0	0	0	0	1	12749	755	27	1		1	PSKH1	16	67943504	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28626	67943504	22411249	11753	35255											
CTRL	1506	broad.mit.edu	37	chr16	67964672	67964672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggctctgcgtttgatgatCggtcatactcgcccaggaca	8	10	12	11	3	2	2	1	2	1	0	4	3	2	3	1	3	2	2	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67964672C>T	ENST00000574481.1	-	4	836	c.275G>A	c.(274-276)cGa>cAa	p.R92Q	CTRL_ENST00000576408.1_5'UTR	NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	92	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity	p.S93fs*20(1)		kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		GTTTGATGATCGGTCATACTC	0.642													T	67964672	C	T	67964672	3	4	364	1	0	0	0	0	1	0	0	0	4061	884	31	1	535	1	CTRL	16	67964672	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21168	67964672	22390081	11754	35256											
SLC12A4	6560	broad.mit.edu	37	chr16	67980444	67980444	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcccaggccacaggactgGatgaggtgggccagcccctc	7	5	13	16	0	0	1	0	1	0	0	2	3	1	3	6	5	1	0	6	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67980444G>T	ENST00000422611.2	-	17	2379	c.2340C>A	c.(2338-2340)atC>atA	p.I780I	SLC12A4_ENST00000338335.3_Intron|SLC12A4_ENST00000572037.1_Silent_p.I730I|SLC12A4_ENST00000541864.2_Silent_p.I747I|SLC12A4_ENST00000576616.1_Silent_p.I778I|SLC12A4_ENST00000316341.3_Silent_p.I778I|SLC12A4_ENST00000537830.2_Silent_p.I772I	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	778					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CACAGGACTGGATGAGGTGGG	0.632													T	67980444	G	T	67980444	2	4	364	1	0	0	0	0	0	0	0	1	14479	1164	41	4		4	SLC12A4	16	67980444	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15772	67980444	22374309	11755	35257											
SLC12A4	6560	broad.mit.edu	37	chr16	67983747	67983747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgagggaggcgatgaggatGcccagctcggcgatgagtgc	8	6	18	9	4	0	2	0	2	0	0	2	7	0	4	1	4	3	1	1	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67983747G>A	ENST00000422611.2	-	12	1749	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	SLC12A4_ENST00000338335.3_Silent_p.G568G|SLC12A4_ENST00000572037.1_Silent_p.G520G|SLC12A4_ENST00000541864.2_Silent_p.G537G|SLC12A4_ENST00000576616.1_Silent_p.G568G|SLC12A4_ENST00000316341.3_Silent_p.G568G|SLC12A4_ENST00000537830.2_Silent_p.G562G	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	568					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CGATGAGGATGCCCAGCTCGG	0.632													A	67983747	G	A	67983747	2	1	364	1	0	0	0	0	0	0	0	1	14479	1306	46	2		2	SLC12A4	16	67983747	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3303	67983747	22371006	11756	35258											
SLC12A4	6560	broad.mit.edu	37	chr16	67991894	67991894	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagaggataaccccaaaGatattctgcaggcagggcag	15	5	13	8	0	1	2	0	0	1	2	1	4	1	4	2	4	2	3	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:67991894G>T	ENST00000422611.2	-	3	441	c.402C>A	c.(400-402)atC>atA	p.I134I	SLC12A4_ENST00000338335.3_Silent_p.I132I|SLC12A4_ENST00000572037.1_Silent_p.I84I|SLC12A4_ENST00000541864.2_Silent_p.I101I|SLC12A4_ENST00000576616.1_Silent_p.I132I|SLC12A4_ENST00000316341.3_Silent_p.I132I|SLC12A4_ENST00000537830.2_Silent_p.I126I|SLC12A4_ENST00000572010.1_5'UTR	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	132					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	TAACCCCAAAGATATTCTGCA	0.587													T	67991894	G	T	67991894	2	4	364	1	0	0	0	0	0	0	0	1	14479	932	33	4		4	SLC12A4	16	67991894	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8147	67991894	22362859	11757	35259											
DPEP3	64180	broad.mit.edu	37	chr16	68011861	68011861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaaagcttgtcaatcCgctgacgttggtgtacatgt	9	12	9	11	2	2	1	2	1	0	0	3	1	3	1	2	1	2	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68011861C>T	ENST00000268793.4	-	5	1184	c.811G>A	c.(811-813)Gga>Aga	p.G271R		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	246					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		CTTGTCAATCCGCTGACGTTG	0.542													T	68011861	C	T	68011861	3	4	364	1	0	0	0	0	1	0	0	0	4754	661	23	1	754	1	DPEP3	16	68011861	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19967	68011861	22342892	11758	35260											
NFATC3	4775	broad.mit.edu	37	chr16	68156145	68156145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatctatctctcctaactGtcatcaagaattagatgcac	13	13	4	11	0	4	2	2	0	2	2	6	2	5	2	1	0	3	1	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68156145G>A	ENST00000349223.5	+	2	583	c.359G>A	c.(358-360)tGt>tAt	p.C120Y	NFATC3_ENST00000346183.3_Missense_Mutation_p.C120Y|NFATC3_ENST00000329524.4_Missense_Mutation_p.C120Y|RP11-67A1.2_ENST00000548144.1_RNA|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.C120Y	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	120					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		TCTCCTAACTGTCATCAAGAA	0.398													A	68156145	G	A	68156145	3	1	364	1	0	0	0	0	1	0	0	0	10440	1377	48	2	365	2	NFATC3	16	68156145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144284	68156145	22198608	11759	35261											
NFATC3	4775	broad.mit.edu	37	chr16	68225673	68225673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaggacatcactttagAtgatggtaagttcatctctg	10	14	9	8	0	4	2	2	1	2	1	5	3	4	3	0	2	1	3	0	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68225673A>G	ENST00000349223.5	+	9	3325	c.3101A>G	c.(3100-3102)gAt>gGt	p.D1034G	NFATC3_ENST00000346183.3_Missense_Mutation_p.D1034G|NFATC3_ENST00000329524.4_Missense_Mutation_p.D1034G|NFATC3_ENST00000535127.2_3'UTR|NFATC3_ENST00000575270.1_Missense_Mutation_p.D1034G	NM_173163.2	NP_775186.1	Q12968	NFAC3_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 3	1034					inflammatory response|transcription from RNA polymerase II promoter	nucleolus|plasma membrane	DNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(19)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	44		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0452)|all cancers(182;0.24)		ATCACTTTAGATGATGGTAAG	0.418													G	68225673	A	G	68225673	3	3	364	1	0	0	0	0	1	0	0	0	10440	333	12	3	3135	3	NFATC3	16	68225673	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	69528	68225673	22129080	11760	35262											
ESRP2	80004	broad.mit.edu	37	chr16	68266665	68266665	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgctcccacactcaccAaggccccgtctcgtatttct	6	10	5	20	2	3	0	1	0	2	0	5	0	4	0	6	1	1	2	6	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68266665A>G	ENST00000473183.2	-	6	1247	c.709T>C	c.(709-711)Tgc>Cgc	p.C237R	ESRP2_ENST00000565858.1_Splice_Site_p.C237R			Q9H6T0	ESRP2_HUMAN	epithelial splicing regulatory protein 2	237					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding|nucleotide binding			NS(1)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	16						CACACTCACCAAGGCCCCGTC	0.577													G	68266665	A	G	68266665	5	3	364	1	0	0	0	0	0	0	1	0	5300	144	5	3	1484	3	ESRP2	16	68266665	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40992	68266665	22088088	11761	35263											
PLA2G15	23659	broad.mit.edu	37	chr16	68293208	68293208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacacactgcgggactaccGcaagttcttccaggacatcg	10	8	9	14	3	1	0	0	0	1	0	3	2	2	2	2	2	3	2	2	2	3	4	rs138261353		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68293208G>A	ENST00000219345.5	+	6	970	c.887G>A	c.(886-888)cGc>cAc	p.R296H	RP11-96D1.7_ENST00000563175.1_RNA|PLA2G15_ENST00000444212.2_Missense_Mutation_p.R96H|PLA2G15_ENST00000413021.2_Missense_Mutation_p.R202H|PLA2G15_ENST00000566188.1_3'UTR	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	296					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						CGGGACTACCGCAAGTTCTTC	0.582													A	68293208	G	A	68293208	3	1	364	1	0	0	0	0	1	0	0	0	12069	1087	38	1	909	1	PLA2G15	16	68293208	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26543	68293208	22061545	11762	35264											
PRMT7	54496	broad.mit.edu	37	chr16	68379675	68379675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtagcccaccacgatgactActgcgtatggtacagcctgc	9	8	11	13	2	0	1	0	1	0	0	0	2	0	1	3	2	6	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68379675A>G	ENST00000339507.5	+	10	1855	c.1025A>G	c.(1024-1026)tAc>tGc	p.Y342C	PRMT7_ENST00000348497.4_Missense_Mutation_p.Y268C|PRMT7_ENST00000449359.3_Missense_Mutation_p.Y292C|PRMT7_ENST00000441236.1_Missense_Mutation_p.Y292C			Q9NVM4	ANM7_HUMAN	protein arginine methyltransferase 7	342					cell differentiation|DNA methylation involved in gamete generation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	[myelin basic protein]-arginine N-methyltransferase activity|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N monomethyltransferase activity|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|pancreas(1)|urinary_tract(1)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0155)|Epithelial(162;0.0629)		CACGATGACTACTGCGTATGG	0.567													G	68379675	A	G	68379675	3	3	364	1	0	0	0	0	1	0	0	0	12627	391	14	3	1055	3	PRMT7	16	68379675	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86467	68379675	21975078	11763	35265											
SMPD3	55512	broad.mit.edu	37	chr16	68405102	68405102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagccgccttcttcaccaccGaggccttgtacaggagcttg	7	9	10	15	2	2	0	1	0	1	0	2	2	2	1	5	2	3	2	5	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68405102G>A	ENST00000219334.5	-	3	1586	c.983C>T	c.(982-984)tCg>tTg	p.S328L	SMPD3_ENST00000568373.1_Missense_Mutation_p.S328L|SMPD3_ENST00000563226.1_Missense_Mutation_p.S328L	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	328					cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	CTTCACCACCGAGGCCTTGTA	0.682													A	68405102	G	A	68405102	3	1	364	1	0	0	0	0	1	0	0	0	14900	1059	37	1	1012	1	SMPD3	16	68405102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25427	68405102	21949651	11764	35266											
CDH3	1001	broad.mit.edu	37	chr16	68725634	68725634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactccaggtgacacagtgGtcttgtccctgaagaagttc	9	11	10	11	0	2	3	1	2	1	1	5	3	4	3	2	2	0	1	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68725634G>A	ENST00000264012.4	+	13	2351	c.1807G>A	c.(1807-1809)Gtc>Atc	p.V603I	CDH3_ENST00000581171.1_Missense_Mutation_p.V548I|CDH3_ENST00000429102.2_Missense_Mutation_p.V603I	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	603	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TGACACAGTGGTCTTGTCCCT	0.498													A	68725634	G	A	68725634	3	1	364	1	0	0	0	0	1	0	0	0	3141	1261	44	2	1857	2	CDH3	16	68725634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320532	68725634	21629119	11765	35267											
CDH1	999	broad.mit.edu	37	chr16	68844204	68844204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaagcccgaattcacccaGgaggtctttaaggggtctgt	11	9	11	10	1	3	0	1	0	2	0	3	2	3	1	2	4	2	0	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68844204G>T	ENST00000261769.5	+	6	983	c.792G>T	c.(790-792)caG>caT	p.Q264H	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.Q264H	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	264	Cadherin 2.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.T263fs*3(6)|p.?(4)|p.F262_E265>L(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		AATTCACCCAGGAGGTCTTTA	0.463			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				T	68844204	G	T	68844204	3	4	364	1	0	0	0	0	1	0	0	0	3125	991	35	4	814	4	CDH1	16	68844204	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118570	68844204	21510549	11766	35268											
CDH1	999	broad.mit.edu	37	chr16	68847221	68847221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgctctgcagtacaaGggtcaggtgcctgagaacga	9	10	12	10	1	3	1	1	1	2	1	3	3	3	1	1	2	5	3	1	2	3	2	rs143727462	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847221G>T	ENST00000261769.5	+	9	1334	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	381	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGCAGTACAAGGGTCAGGTGC	0.493			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				T	68847221	G	T	68847221	3	4	364	1	0	0	0	0	1	0	0	0	3125	991	35	4	1177	4	CDH1	16	68847221	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3017	68847221	21507532	11767	35269											
CDH1	999	broad.mit.edu	37	chr16	68847244	68847244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtgcctgagaacgaggCtaacgtcgtaatcaccacac	12	7	10	12	3	2	1	2	1	0	1	3	3	2	1	2	2	3	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847244C>T	ENST00000261769.5	+	9	1357	c.1166C>T	c.(1165-1167)gCt>gTt	p.A389V	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	389	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		GAGAACGAGGCTAACGTCGTA	0.493			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				T	68847244	C	T	68847244	3	4	364	1	0	0	0	0	1	0	0	0	3125	797	28	2	1200	2	CDH1	16	68847244	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	68847244	21507509	11768	35270											
CDH1	999	broad.mit.edu	37	chr16	68847374	68847374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accacaaatccagtgaacaaCgatggcattttgaaaacagc	17	7	7	10	1	0	2	0	2	0	0	1	3	1	2	2	1	4	1	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:68847374C>T	ENST00000261769.5	+	9	1487	c.1296C>T	c.(1294-1296)aaC>aaT	p.N432N	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Intron	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	432	Cadherin 3.				adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.Y380_K440del(2)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		CAGTGAACAACGATGGCATTT	0.473			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				T	68847374	C	T	68847374	2	4	364	1	0	0	0	0	0	0	0	1	3125	535	19	1		1	CDH1	16	68847374	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130	68847374	21507379	11769	35271											
HAS3	3038	broad.mit.edu	37	chr16	69143610	69143610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgactacttgcgcaagtgCctgcgctcggcccagcgcat	6	8	11	16	4	0	1	0	1	0	0	1	1	0	1	3	1	5	3	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143610C>T	ENST00000306560.1	+	2	468	c.312C>T	c.(310-312)tgC>tgT	p.C104C	HAS3_ENST00000569188.1_Silent_p.C104C|HAS3_ENST00000219322.3_Silent_p.C104C	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	104					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		TGCGCAAGTGCCTGCGCTCGG	0.662													T	69143610	C	T	69143610	2	4	364	1	0	0	0	0	0	0	0	1	7018	747	26	2		2	HAS3	16	69143610	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296236	69143610	21211143	11770	35272											
HAS3	3038	broad.mit.edu	37	chr16	69143877	69143877	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaagtggggaggcaaGcgcgaggtcatgtacacggc	11	5	17	8	3	1	1	1	0	0	1	1	3	1	2	0	5	3	3	0	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69143877G>T	ENST00000306560.1	+	2	735	c.579G>T	c.(577-579)aaG>aaT	p.K193N	HAS3_ENST00000569188.1_Missense_Mutation_p.K193N|HAS3_ENST00000219322.3_Missense_Mutation_p.K193N	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	193					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		GGGGAGGCAAGCGCGAGGTCA	0.627													T	69143877	G	T	69143877	3	4	364	1	0	0	0	0	1	0	0	0	7018	962	34	4	581	4	HAS3	16	69143877	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267	69143877	21210876	11771	35273											
HAS3	3038	broad.mit.edu	37	chr16	69148496	69148496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcctgagccttggctaccGaactaagtataccgcgcgct	9	9	10	13	4	0	1	0	1	0	0	1	2	1	1	4	1	4	3	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69148496G>A	ENST00000306560.1	+	4	1145	c.989G>A	c.(988-990)cGa>cAa	p.R330Q	HAS3_ENST00000569188.1_Missense_Mutation_p.R330Q|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	330					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity	p.R330Q(1)		cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CTTGGCTACCGAACTAAGTAT	0.582													A	69148496	G	A	69148496	3	1	364	1	0	0	0	0	1	0	0	0	7018	1058	37	1	999	1	HAS3	16	69148496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4619	69148496	21206257	11772	35274											
CIRH1A	84916	broad.mit.edu	37	chr16	69184788	69184788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaattacgatgccgctctccGaaaaatcacctttccccacg	11	9	6	15	4	2	0	1	0	1	0	4	3	3	0	5	0	2	1	5	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69184788G>A	ENST00000563094.1	+	8	1017	c.983G>A	c.(982-984)cGa>cAa	p.R328Q	CIRH1A_ENST00000352319.4_Missense_Mutation_p.R328Q|CIRH1A_ENST00000314423.7_Missense_Mutation_p.R328Q			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	328						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		GCCGCTCTCCGAAAAATCACC	0.537													A	69184788	G	A	69184788	3	1	364	1	0	0	0	0	1	0	0	0	3464	1058	37	1	1009	1	CIRH1A	16	69184788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36292	69184788	21169965	11773	35275											
CIRH1A	84916	broad.mit.edu	37	chr16	69197042	69197043	+	Frame_Shift_Ins	INS	-	-	A																															ctgctatggctattgcccccINSaataccaacaaccttgtcat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197042_69197043insA	ENST00000563094.1	+	14	1642_1643	c.1608_1609insA	c.(1609-1611)aatfs	p.N537fs	CIRH1A_ENST00000314423.7_Frame_Shift_Ins_p.N537fs|CIRH1A_ENST00000352319.4_Frame_Shift_Ins_p.N422fs			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	537						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CTATTGCCCCCAATACCAACAA	0.48													A	69197043	-	A	69197042	7	5	364	1	0	1	1	0	0	0	0	0	3464	581	21	0	1658	0	CIRH1A	16	69197042	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	12254	69197042	21157711	11774	35276											
CIRH1A	84916	broad.mit.edu	37	chr16	69197064	69197064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccaacaaccttgtcatcGctcattcggaccagcaggta	12	9	7	13	2	2	0	2	0	0	0	4	1	2	1	3	2	4	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69197064G>A	ENST00000563094.1	+	14	1664	c.1630G>A	c.(1630-1632)Gct>Act	p.A544T	CIRH1A_ENST00000352319.4_Missense_Mutation_p.A429T|CIRH1A_ENST00000314423.7_Missense_Mutation_p.A544T			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	544						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		CCTTGTCATCGCTCATTCGGA	0.498													A	69197064	G	A	69197064	3	1	364	1	0	0	0	0	1	0	0	0	3464	1087	38	1	1680	1	CIRH1A	16	69197064	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	69197064	21157689	11775	35277											
SNTB2	6645	broad.mit.edu	37	chr16	69279555	69279555	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaagccatcattagtaTcagatctgccgtgggaaggt	12	10	11	8	1	4	2	3	0	1	2	4	3	4	3	2	2	2	1	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69279555T>G	ENST00000336278.4	+	2	669	c.631T>G	c.(631-633)Tca>Gca	p.S211A	SNTB2_ENST00000528525.1_3'UTR	NM_006750.3	NP_006741.1	Q13425	SNTB2_HUMAN	syntrophin, beta 2 (dystrophin-associated protein A1, 59kDa, basic component 2)	211	PH 1.					cell junction|dystrophin-associated glycoprotein complex|membrane fraction|microtubule|transport vesicle membrane	actin binding|calmodulin binding|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	13		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.208)		ATCATTAGTATCAGATCTGCC	0.438													G	69279555	T	G	69279555	3	3	364	1	0	0	0	0	1	0	0	0	14967	1435	50	5	637	5	SNTB2	16	69279555	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82491	69279555	21075198	11776	35278											
VPS4A	27183	broad.mit.edu	37	chr16	69356569	69356569	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacttggatggatgtccCtggggacaaactcttagagc	10	10	13	8	0	1	2	0	1	1	1	2	6	2	5	1	4	2	0	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69356569C>A	ENST00000254950.11	+	10	1334	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H	COG8_ENST00000564419.1_Intron	NM_013245.2	NP_037377.1	Q9UN37	VPS4A_HUMAN	vacuolar protein sorting 4 homolog A (S. cerevisiae)	393					cell cycle|cellular membrane organization|cytokinesis|endosome transport|protein transport	cytosol|late endosome membrane|midbody|perinuclear region of cytoplasm	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein domain specific binding			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(3)	7		Ovarian(137;0.101)				ATGGATGTCCCTGGGGACAAA	0.562													A	69356569	C	A	69356569	3	1	364	1	0	0	0	0	1	0	0	0	17314	681	24	4	1216	4	VPS4A	16	69356569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77014	69356569	20998184	11777	35279											
TERF2	7014	broad.mit.edu	37	chr16	69400902	69400902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccaccctcaccgtcagccGgggctgaactttcgttttca	7	10	9	15	3	3	1	3	1	0	0	4	1	3	1	4	2	3	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69400902G>A	ENST00000254942.3	-	7	1164	c.1148C>T	c.(1147-1149)cCg>cTg	p.P383L	TERF2_ENST00000603068.1_Missense_Mutation_p.P341L	NM_005652.3	NP_005643.2	Q15554	TERF2_HUMAN	telomeric repeat binding factor 2	341					age-dependent telomere shortening|cell cycle|cellular senescence|negative regulation of telomere maintenance via semi-conservative replication|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of transcription, DNA-dependent|telomeric loop formation	Golgi apparatus|nuclear telomere cap complex|nucleoplasm	double-stranded telomeric DNA binding|protein C-terminus binding|protein homodimerization activity			NS(2)|breast(1)|large_intestine(3)|lung(1)	7		Ovarian(137;0.101)				ACCGTCAGCCGGGGCTGAACT	0.537													A	69400902	G	A	69400902	3	1	364	1	0	0	0	0	1	0	0	0	15862	1116	39	1	496	1	TERF2	16	69400902	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44333	69400902	20953851	11778	35280											
NFAT5	10725	broad.mit.edu	37	chr16	69727997	69727997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcccctcagaacaacatGcctggaattcaaggagccac	13	8	7	13	0	2	1	2	0	0	1	3	3	3	3	4	2	4	0	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69727997G>A	ENST00000349945.1	+	14	5539	c.3987G>A	c.(3985-3987)atG>atA	p.M1329I	NFAT5_ENST00000432919.1_Missense_Mutation_p.M1423I|NFAT5_ENST00000393742.2_Missense_Mutation_p.M1329I|NFAT5_ENST00000567239.1_Missense_Mutation_p.M1422I|NFAT5_ENST00000566899.1_Missense_Mutation_p.M1329I|NFAT5_ENST00000354436.2_Missense_Mutation_p.M1405I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	1405					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						AGAACAACATGCCTGGAATTC	0.453													A	69727997	G	A	69727997	3	1	364	1	0	0	0	0	1	0	0	0	10436	1319	46	2	4319	2	NFAT5	16	69727997	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327095	69727997	20626756	11779	35281											
NOB1	28987	broad.mit.edu	37	chr16	69786169	69786169	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggttcttgttttaggtgaGacaccccaacaaactctgct	9	13	9	10	0	2	1	0	1	2	1	2	2	2	1	2	2	3	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:69786169G>T	ENST00000268802.5	-	3	331	c.302C>A	c.(301-303)tCt>tAt	p.S101Y		NM_014062.1	NP_054781.1	Q9ULX3	NOB1_HUMAN	NIN1/RPN12 binding protein 1 homolog (S. cerevisiae)	101	PINc.					nucleus	metal ion binding|protein binding			breast(2)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						TTTTAGGTGAGACACCCCAAC	0.433													T	69786169	G	T	69786169	3	4	364	1	0	0	0	0	1	0	0	0	10587	942	33	4	964	4	NOB1	16	69786169	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58172	69786169	20568584	11780	35282											
PDPR	55066	broad.mit.edu	37	chr16	70177557	70177557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatagcacgactgaacaagCgcaggtgagatgagctgccg	12	5	14	10	3	0	3	0	3	0	1	0	5	0	3	1	1	5	4	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70177557C>T	ENST00000288050.4	+	14	2707	c.1750C>T	c.(1750-1752)Cgc>Tgc	p.R584C	PDPR_ENST00000398122.3_Missense_Mutation_p.R484C|PDPR_ENST00000568530.1_Missense_Mutation_p.R584C|PDPR_ENST00000562100.1_3'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	584					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		ACTGAACAAGCGCAGGTGAGA	0.557													T	70177557	C	T	70177557	3	4	364	1	0	0	0	0	1	0	0	0	11765	768	27	1	1796	1	PDPR	16	70177557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391388	70177557	20177196	11781	35283											
PDPR	55066	broad.mit.edu	37	chr16	70180086	70180086	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgctgtctgagttgtcCtatgcccctatgactccaga	7	13	10	11	0	1	3	0	2	1	1	3	4	3	3	4	0	2	2	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70180086C>A	ENST00000288050.4	+	16	2874	c.1917C>A	c.(1915-1917)tcC>tcA	p.S639S	PDPR_ENST00000398122.3_Silent_p.S539S|PDPR_ENST00000567046.1_5'UTR|PDPR_ENST00000568530.1_Silent_p.S639S|PDPR_ENST00000562100.1_3'UTR|PDPR_ENST00000542659.1_5'UTR	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	639					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CTGAGTTGTCCTATGCCCCTA	0.468													A	70180086	C	A	70180086	2	1	364	1	0	0	0	0	0	0	0	1	11765	668	24	4		4	PDPR	16	70180086	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2529	70180086	20174667	11782	35284											
PDPR	55066	broad.mit.edu	37	chr16	70187441	70187441	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataacctcaccacgcccctgGaatgtggacgagagtctcgg	10	7	11	13	3	2	1	1	0	1	1	3	4	2	3	4	3	1	0	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70187441G>T	ENST00000288050.4	+	18	3157	c.2200G>T	c.(2200-2202)Gaa>Taa	p.E734*	PDPR_ENST00000398122.3_Nonsense_Mutation_p.E634*|PDPR_ENST00000567046.1_Nonsense_Mutation_p.E92*|PDPR_ENST00000568530.1_Nonsense_Mutation_p.E734*|PDPR_ENST00000562100.1_Intron|PDPR_ENST00000542659.1_Nonsense_Mutation_p.E79*	NM_017990.3	NP_060460.4	Q8NCN5	PDPR_HUMAN	pyruvate dehydrogenase phosphatase regulatory subunit	734					glycine catabolic process|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	aminomethyltransferase activity|oxidoreductase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|skin(2)|stomach(3)	33				BRCA - Breast invasive adenocarcinoma(221;0.124)		CACGCCCCTGGAATGTGGACG	0.488													T	70187441	G	T	70187441	4	4	364	1	0	0	0	0	0	1	0	0	11765	1175	41	4	2262	4	PDPR	16	70187441	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7355	70187441	20167312	11783	35285											
AARS	16	broad.mit.edu	37	chr16	70292106	70292106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgccagggggcaatcCtgggtatagacggcctgcca	7	7	15	12	1	0	1	0	0	0	1	1	1	1	1	4	4	3	4	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70292106C>A	ENST00000261772.8	-	15	2150	c.2007G>T	c.(2005-2007)caG>caT	p.Q669H	AARS_ENST00000564359.1_Intron	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	669					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	GGGGGCAATCCTGGGTATAGA	0.597													A	70292106	C	A	70292106	3	1	364	1	0	0	0	0	1	0	0	0	19	680	24	4	927	4	AARS	16	70292106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104665	70292106	20062647	11784	35286											
DDX19B	11269	broad.mit.edu	37	chr16	70349948	70349948	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacacaaaccaagtggaagtCctgcagcgggatccaaactc	15	5	9	12	1	0	0	0	0	0	0	3	2	2	2	3	2	5	1	3	2	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70349948C>T	ENST00000288071.6	+	4	482	c.237C>T	c.(235-237)gtC>gtT	p.V79V	DDX19B_ENST00000451014.3_Silent_p.V84V|DDX19B_ENST00000393657.2_5'UTR|DDX19B_ENST00000355992.3_Silent_p.V79V|DDX19B_ENST00000563392.1_5'UTR|RP11-529K1.2_ENST00000562077.1_RNA|RP11-529K1.3_ENST00000567706.1_Silent_p.V79V|DDX19B_ENST00000570055.1_3'UTR|DDX19B_ENST00000563206.1_Silent_p.V84V|DDX19B_ENST00000568625.1_5'UTR	NM_007242.5	NP_009173.1	Q9UMR2	DD19B_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 19B	79					mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear membrane|nuclear pore	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|prostate(1)	9		Ovarian(137;0.0694)				AAGTGGAAGTCCTGCAGCGGG	0.473													T	70349948	C	T	70349948	2	4	364	1	0	0	0	0	0	0	0	1	4381	842	30	2		2	DDX19B	16	70349948	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57842	70349948	20004805	11785	35287											
DDX19A	55308	broad.mit.edu	37	chr16	70390074	70390074	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaccttgttgataacAcaaaccaagtggaagtcctg	15	8	9	9	0	0	1	0	1	0	0	1	3	1	2	3	1	4	2	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70390074A>G	ENST00000302243.7	+	4	380	c.217A>G	c.(217-219)Aca>Gca	p.T73A	DDX19A_ENST00000417604.2_Missense_Mutation_p.T73A|DDX19A_ENST00000562509.1_3'UTR|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGTTGATAACACAAACCAAGT	0.483													G	70390074	A	G	70390074	3	3	364	1	0	0	0	0	1	0	0	0	4380	159	6	3	231	3	DDX19A	16	70390074	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40126	70390074	19964679	11786	35288											
DDX19A	55308	broad.mit.edu	37	chr16	70395365	70395365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctatgccatgggcttcaatcGaccctccaagatacaagaga	13	8	8	12	1	1	2	1	0	0	2	3	4	2	2	3	1	2	1	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70395365G>A	ENST00000302243.7	+	5	501	c.338G>A	c.(337-339)cGa>cAa	p.R113Q	DDX19A_ENST00000417604.2_Intron|DDX19A_ENST00000443119.2_Missense_Mutation_p.R23Q|DDX19A_ENST00000562509.1_3'UTR|RP11-529K1.3_ENST00000567706.1_Intron	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				GGCTTCAATCGACCCTCCAAG	0.478													A	70395365	G	A	70395365	3	1	364	1	0	0	0	0	1	0	0	0	4380	1058	37	1	356	1	DDX19A	16	70395365	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5291	70395365	19959388	11787	35289											
ST3GAL2	6483	broad.mit.edu	37	chr16	70416789	70416789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgctctgtccacctgtcGtggatatacttgaagaaggc	9	12	11	9	1	1	3	0	2	1	1	3	4	2	4	2	2	2	1	2	2	4	3	rs143187183		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70416789G>A	ENST00000393640.4	-	5	2905	c.798C>T	c.(796-798)caC>caT	p.H266H	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Silent_p.H266H			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	266					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				TCCACCTGTCGTGGATATACT	0.552													A	70416789	G	A	70416789	2	1	364	1	0	0	0	0	0	0	0	1	15311	1136	40	1		1	ST3GAL2	16	70416789	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21424	70416789	19937964	11788	35290											
COG4	25839	broad.mit.edu	37	chr16	70515339	70515339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccaggtggtcaccgtggTaaggtaggcaatgagcgacc	9	7	16	9	2	1	1	1	1	0	0	2	2	2	1	3	6	1	3	3	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70515339T>C	ENST00000323786.5	-	18	2179	c.2158A>G	c.(2158-2160)Acc>Gcc	p.T720A		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	716	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				GTCACCGTGGTAAGGTAGGCA	0.597													C	70515339	T	C	70515339	3	2	364	1	0	0	0	0	1	0	0	0	3691	1638	57	3	219	3	COG4	16	70515339	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	98550	70515339	19839414	11789	35291											
COG4	25839	broad.mit.edu	37	chr16	70516638	70516638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggccaggctaacctcctcGatgttgtgggagacggagaa	9	8	15	9	2	0	2	0	0	0	2	2	5	1	2	3	4	1	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70516638G>A	ENST00000323786.5	-	15	1935	c.1914C>T	c.(1912-1914)atC>atT	p.I638I		NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	634	D domain.				Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				TAACCTCCTCGATGTTGTGGG	0.572													A	70516638	G	A	70516638	2	1	364	1	0	0	0	0	0	0	0	1	3691	1048	37	1		1	COG4	16	70516638	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1299	70516638	19838115	11790	35292											
SF3B3	23450	broad.mit.edu	37	chr16	70572290	70572290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaacccataaaaccaaatCgatgttcttctttttggctc	11	14	5	11	1	2	0	0	0	2	0	4	1	2	0	2	1	3	3	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70572290C>T	ENST00000302516.5	+	7	1101	c.890C>T	c.(889-891)tCg>tTg	p.S297L		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	297					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAAACCAAATCGATGTTCTTC	0.388													T	70572290	C	T	70572290	3	4	364	1	0	0	0	0	1	0	0	0	14245	893	31	1	912	1	SF3B3	16	70572290	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55652	70572290	19782463	11791	35293											
SF3B3	23450	broad.mit.edu	37	chr16	70599032	70599032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatggcagcagcattccTcaatgaaaacctccctgaat	14	8	8	11	0	1	3	1	2	0	1	3	4	3	3	3	1	3	3	3	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70599032T>C	ENST00000302516.5	+	19	2739	c.2528T>C	c.(2527-2529)cTc>cCc	p.L843P		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	843					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCAGCATTCCTCAATGAAAAC	0.537													C	70599032	T	C	70599032	3	2	364	1	0	0	0	0	1	0	0	0	14245	1551	54	3	2598	3	SF3B3	16	70599032	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26742	70599032	19755721	11792	35294											
IL34	146433	broad.mit.edu	37	chr16	70690536	70690536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcaactacaagatcaGtgtgccttacgagggggtgt	10	9	11	11	1	2	1	2	0	0	1	2	2	2	1	3	2	4	0	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690536G>A	ENST00000429149.2	+	4	749	c.194G>A	c.(193-195)aGt>aAt	p.S65N	IL34_ENST00000566361.1_Missense_Mutation_p.S40N|IL34_ENST00000569641.1_3'UTR|IL34_ENST00000288098.2_Missense_Mutation_p.S65N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	65					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TACAAGATCAGTGTGCCTTAC	0.562													A	70690536	G	A	70690536	3	1	364	1	0	0	0	0	1	0	0	0	7752	1029	36	2	204	2	IL34	16	70690536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91504	70690536	19664217	11793	35295											
IL34	146433	broad.mit.edu	37	chr16	70690941	70690941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgccactgagtcggtgcagGacgtgctgctcgagggccac	6	7	16	12	3	0	1	0	1	0	0	2	3	0	2	2	3	4	3	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70690941G>A	ENST00000429149.2	+	5	874	c.319G>A	c.(319-321)Gac>Aac	p.D107N	IL34_ENST00000566361.1_Missense_Mutation_p.D82N|IL34_ENST00000288098.2_Missense_Mutation_p.D107N	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	107					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						GTCGGTGCAGGACGTGCTGCT	0.627													A	70690941	G	A	70690941	3	1	364	1	0	0	0	0	1	0	0	0	7752	1174	41	2	333	2	IL34	16	70690941	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	405	70690941	19663812	11794	35296											
IL34	146433	broad.mit.edu	37	chr16	70694006	70694006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccagctgtaccctccGcccccgtggtcccccagctc	4	6	8	23	2	0	0	0	0	0	0	3	0	2	0	8	1	3	3	8	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70694006G>A	ENST00000429149.2	+	7	1200	c.645G>A	c.(643-645)ccG>ccA	p.P215P	IL34_ENST00000566361.1_Silent_p.P190P|IL34_ENST00000288098.2_Silent_p.P215P	NM_001172771.1|NM_152456.2	NP_001166242.1|NP_689669.2	Q6ZMJ4	IL34_HUMAN	interleukin 34	215					positive regulation of cell proliferation|positive regulation of protein phosphorylation	extracellular space	cytokine activity|growth factor activity|macrophage colony-stimulating factor receptor binding			breast(1)|central_nervous_system(1)|kidney(9)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(2)	17						TGTACCCTCCGCCCCCGTGGT	0.662													A	70694006	G	A	70694006	2	1	364	1	0	0	0	0	0	0	0	1	7752	1074	38	1		1	IL34	16	70694006	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3065	70694006	19660747	11795	35297											
MTSS1L	92154	broad.mit.edu	37	chr16	70713743	70713743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttccagtcctcgatgcGctcctgcagcgggttgatga	5	12	11	13	3	1	2	0	2	1	0	5	3	4	2	3	1	3	3	3	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70713743G>A	ENST00000338779.6	-	5	602	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C		NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	110	IMD.				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TCCTCGATGCGCTCCTGCAGC	0.736													A	70713743	G	A	70713743	3	1	364	1	0	0	0	0	1	0	0	0	10039	1087	38	1	1959	1	MTSS1L	16	70713743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19737	70713743	19641010	11796	35298											
VAC14	55697	broad.mit.edu	37	chr16	70765433	70765433	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgacctccaggagcttCcgttcgctgctgaatctctt	5	13	8	15	2	2	2	0	2	2	0	6	3	4	3	4	1	2	4	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70765433C>A	ENST00000261776.5	-	14	1886	c.1626G>T	c.(1624-1626)cgG>cgT	p.R542R		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	542					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.R542R(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGGAGCTTCCGTTCGCTGC	0.507													A	70765433	C	A	70765433	2	1	364	1	0	0	0	0	0	0	0	1	17213	842	30	4		4	VAC14	16	70765433	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51690	70765433	19589320	11797	35299											
VAC14	55697	broad.mit.edu	37	chr16	70796894	70796894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaggacctgcacgatccCgtcgaggtgaagggtcactg	8	9	14	10	3	1	1	1	1	0	0	3	4	2	2	2	3	1	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70796894C>T	ENST00000261776.5	-	11	1455	c.1195G>A	c.(1195-1197)Ggg>Agg	p.G399R	VAC14-AS1_ENST00000398177.1_RNA|VAC14-AS1_ENST00000562507.1_RNA	NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	399					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity	p.G399W(1)		breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TGCACGATCCCGTCGAGGTGA	0.557													T	70796894	C	T	70796894	3	4	364	1	0	0	0	0	1	0	0	0	17213	652	23	1	1189	1	VAC14	16	70796894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31461	70796894	19557859	11798	35300											
VAC14	55697	broad.mit.edu	37	chr16	70814781	70814781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctcatccagctcgtcGtcctcgggggtgaccagctt	5	10	11	15	3	2	1	2	1	0	0	7	1	4	1	3	2	3	3	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70814781G>A	ENST00000261776.5	-	9	1268	c.1008C>T	c.(1006-1008)gaC>gaT	p.D336D		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	336					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				CCAGCTCGTCGTCCTCGGGGG	0.592													A	70814781	G	A	70814781	2	1	364	1	0	0	0	0	0	0	0	1	17213	1136	40	1		1	VAC14	16	70814781	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17887	70814781	19539972	11799	35301											
HYDIN	54768	broad.mit.edu	37	chr16	70972621	70972621	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccatgttttggagacgCtccttctctttctcaagagc	7	15	7	12	1	3	2	2	0	2	2	7	3	5	2	2	1	1	2	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:70972621C>T	ENST00000393567.2	-	44	7041	c.6891G>A	c.(6889-6891)gaG>gaA	p.E2297E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2297										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTGGAGACGCTCCTTCTCTT	0.532													T	70972621	C	T	70972621	2	4	364	1	0	0	0	0	0	0	0	1	7525	796	28	2		2	HYDIN	16	70972621	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	157840	70972621	19382132	11800	35302											
HYDIN	54768	broad.mit.edu	37	chr16	71025246	71025246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcacactggaagctttcGtttttcttagttctttttct	7	20	6	8	1	4	1	1	0	3	1	5	2	4	2	0	1	1	3	0	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71025246G>A	ENST00000393567.2	-	25	3989	c.3839C>T	c.(3838-3840)aCg>aTg	p.T1280M		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1280								p.T1280K(1)|p.T1232K(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GGAAGCTTTCGTTTTTCTTAG	0.463													A	71025246	G	A	71025246	3	1	364	1	0	0	0	0	1	0	0	0	7525	1145	40	1	11771	1	HYDIN	16	71025246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52625	71025246	19329507	11801	35303											
HYDIN	54768	broad.mit.edu	37	chr16	71061529	71061529	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggagtagcagaatagccttcGagtatcacatcaattgcctg	12	10	10	9	1	2	1	2	0	0	1	3	3	2	2	2	1	3	3	2	1	5	5	rs141223232		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71061529G>A	ENST00000393567.2	-	20	3168	c.3018C>T	c.(3016-3018)ctC>ctT	p.L1006L	HYDIN_ENST00000448691.1_Silent_p.L1006L|HYDIN_ENST00000448089.2_Silent_p.L1006L|HYDIN_ENST00000321489.5_Silent_p.L1006L	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1006										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				AATAGCCTTCGAGTATCACAT	0.493													A	71061529	G	A	71061529	2	1	364	1	0	0	0	0	0	0	0	1	7525	1045	37	1		1	HYDIN	16	71061529	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36283	71061529	19293224	11802	35304											
CHST4	10164	broad.mit.edu	37	chr16	71570688	71570688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacatcagctccctgtctatGaaggcacagcccgagcgcat	11	7	9	14	2	2	1	1	1	1	0	3	2	3	1	2	1	4	3	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71570688G>A	ENST00000338482.5	+	3	451	c.108G>A	c.(106-108)atG>atA	p.M36I	CHST4_ENST00000572450.1_Missense_Mutation_p.M36I|ZNF19_ENST00000568446.1_Intron|CHST4_ENST00000539698.3_Missense_Mutation_p.M36I			Q8NCG5	CHST4_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 4	36					cell-cell signaling|immune response|inflammatory response|N-acetylglucosamine metabolic process|protein sulfation	integral to membrane|intrinsic to Golgi membrane|trans-Golgi network	N-acetylglucosamine 6-O-sulfotransferase activity			cervix(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	21						CCCTGTCTATGAAGGCACAGC	0.517													A	71570688	G	A	71570688	3	1	364	1	0	0	0	0	1	0	0	0	3436	1290	45	2	110	2	CHST4	16	71570688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	509159	71570688	18784065	11803	35305											
MARVELD3	91862	broad.mit.edu	37	chr16	71674836	71674836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcgtggtgctggccctgcGtagctaccgagaacagaagc	9	6	14	12	3	0	2	0	0	0	2	0	3	0	2	2	2	7	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71674836G>A	ENST00000299952.4	+	3	1182	c.1139G>A	c.(1138-1140)cGt>cAt	p.R380H	MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|PHLPP2_ENST00000540628.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	383	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGGCCCTGCGTAGCTACCGA	0.572													A	71674836	G	A	71674836	3	1	364	1	0	0	0	0	1	0	0	0	9394	1145	40	1	1764	1	MARVELD3	16	71674836	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104148	71674836	18679917	11804	35306											
PHLPP2	23035	broad.mit.edu	37	chr16	71683149	71683149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcacactgttctgtcttcGgatcccaaaacacgaccctc	10	11	5	15	2	3	0	1	0	2	0	6	2	4	1	2	1	1	1	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71683149G>A	ENST00000393524.2	-	17	4148	c.3415C>T	c.(3415-3417)Cga>Tga	p.R1139*	PHLPP2_ENST00000567016.1_Nonsense_Mutation_p.R1241*|PHLPP2_ENST00000360429.3_Intron|PHLPP2_ENST00000356272.3_Nonsense_Mutation_p.R1206*|PHLPP2_ENST00000568954.1_Nonsense_Mutation_p.R1206*|PHLPP2_ENST00000540628.1_Intron			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	1206						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTCTGTCTTCGGATCCCAAAA	0.532													A	71683149	G	A	71683149	4	1	364	1	0	0	0	0	0	1	0	0	11932	1124	39	1	359	1	PHLPP2	16	71683149	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8313	71683149	18671604	11805	35307											
PHLPP2	23035	broad.mit.edu	37	chr16	71686719	71686719	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggctttttggtcctTcaccctttgagcctcctctg	4	16	9	12	0	2	2	1	2	1	0	4	3	4	2	4	2	1	1	4	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71686719T>C	ENST00000393524.2	-	16	3323	c.2590A>G	c.(2590-2592)Aag>Gag	p.K864E	PHLPP2_ENST00000567016.1_Missense_Mutation_p.K966E|PHLPP2_ENST00000360429.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000356272.3_Missense_Mutation_p.K931E|PHLPP2_ENST00000568954.1_Missense_Mutation_p.K931E|PHLPP2_ENST00000540628.1_Missense_Mutation_p.K141E			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	931	PP2C-like.					cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						TTTTGGTCCTTCACCCTTTGA	0.572													C	71686719	T	C	71686719	3	2	364	1	0	0	0	0	1	0	0	0	11932	1792	62	3	1188	3	PHLPP2	16	71686719	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3570	71686719	18668034	11806	35308											
PHLPP2	23035	broad.mit.edu	37	chr16	71689282	71689282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctccatcaaacatgccatAcacagctcccaccccctctg	10	8	4	19	0	3	0	1	0	2	0	5	0	4	0	5	0	4	1	5	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71689282A>G	ENST00000393524.2	-	15	2978	c.2245T>C	c.(2245-2247)Tat>Cat	p.Y749H	PHLPP2_ENST00000567016.1_Missense_Mutation_p.Y851H|PHLPP2_ENST00000360429.3_Missense_Mutation_p.Y816H|PHLPP2_ENST00000356272.3_Missense_Mutation_p.Y816H|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000568954.1_Missense_Mutation_p.Y816H|PHLPP2_ENST00000540628.1_Missense_Mutation_p.Y26H			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	816						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AACATGCCATACACAGCTCCC	0.463													G	71689282	A	G	71689282	3	3	364	1	0	0	0	0	1	0	0	0	11932	391	14	3	1537	3	PHLPP2	16	71689282	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2563	71689282	18665471	11807	35309											
PHLPP2	23035	broad.mit.edu	37	chr16	71692149	71692149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacctaaatatgtccaGtgtcttgtgttccagaacca	10	14	6	11	0	1	1	0	0	1	1	4	1	4	1	5	0	2	1	5	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71692149G>A	ENST00000393524.2	-	13	2798	c.2065C>T	c.(2065-2067)Ctg>Ttg	p.L689L	PHLPP2_ENST00000567016.1_Silent_p.L791L|PHLPP2_ENST00000360429.3_Silent_p.L756L|PHLPP2_ENST00000356272.3_Silent_p.L756L|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000568954.1_Silent_p.L756L|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	756						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AATATGTCCAGTGTCTTGTGT	0.423													A	71692149	G	A	71692149	2	1	364	1	0	0	0	0	0	0	0	1	11932	1020	36	2		2	PHLPP2	16	71692149	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2867	71692149	18662604	11808	35310											
PHLPP2	23035	broad.mit.edu	37	chr16	71710385	71710385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagggtccgaagggaaaagCcactgagtgttagctccctc	11	7	13	10	1	0	2	0	1	0	1	3	4	2	3	3	2	2	2	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71710385C>T	ENST00000393524.2	-	8	2169	c.1436G>A	c.(1435-1437)gGc>gAc	p.G479D	PHLPP2_ENST00000567016.1_Missense_Mutation_p.G514D|PHLPP2_ENST00000360429.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000356272.3_Missense_Mutation_p.G479D|PHLPP2_ENST00000568954.1_Missense_Mutation_p.G479D			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	479						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAGGGAAAAGCCACTGAGTGT	0.502													T	71710385	C	T	71710385	3	4	364	1	0	0	0	0	1	0	0	0	11932	739	26	2	2579	2	PHLPP2	16	71710385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18236	71710385	18644368	11809	35311											
PHLPP2	23035	broad.mit.edu	37	chr16	71715723	71715723	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgcaagttgaggtaggtaAtatcttgactatagaagaga	14	11	12	4	1	1	4	0	2	1	2	2	5	1	4	0	2	0	4	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71715723A>C	ENST00000393524.2	-	5	1554	c.821T>G	c.(820-822)aTt>aGt	p.I274S	PHLPP2_ENST00000567016.1_Missense_Mutation_p.I309S|PHLPP2_ENST00000360429.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000356272.3_Missense_Mutation_p.I274S|PHLPP2_ENST00000568954.1_Missense_Mutation_p.I274S			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	274						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						GAGGTAGGTAATATCTTGACT	0.468													C	71715723	A	C	71715723	3	2	364	1	0	0	0	0	1	0	0	0	11932	101	4	5	3206	5	PHLPP2	16	71715723	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5338	71715723	18639030	11810	35312											
PHLPP2	23035	broad.mit.edu	37	chr16	71736512	71736512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattcttaccaccataaaatCgaatcatacagccgaggtca	16	9	5	11	2	3	0	2	0	1	0	4	2	3	0	3	1	3	0	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71736512C>T	ENST00000393524.2	-	2	1140	c.407G>A	c.(406-408)cGa>cAa	p.R136Q	PHLPP2_ENST00000567016.1_Missense_Mutation_p.R171Q|PHLPP2_ENST00000360429.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000356272.3_Missense_Mutation_p.R136Q|PHLPP2_ENST00000568954.1_Missense_Mutation_p.R136Q			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	136						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						ACCATAAAATCGAATCATACA	0.403													T	71736512	C	T	71736512	3	4	364	1	0	0	0	0	1	0	0	0	11932	884	31	1	3632	1	PHLPP2	16	71736512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20789	71736512	18618241	11811	35313											
AP1G1	164	broad.mit.edu	37	chr16	71768515	71768515	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acaaatgtgctactcaccttCtgagggttcagaactttaat	12	13	7	9	0	3	2	2	1	1	1	3	2	3	2	1	1	3	2	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71768515C>T	ENST00000299980.4	-	22	2805	c.2364G>A	c.(2362-2364)caG>caA	p.Q788Q	AP1G1_ENST00000433195.2_Silent_p.Q811Q|AP1G1_ENST00000423132.2_Silent_p.Q791Q|AP1G1_ENST00000569748.1_Silent_p.Q788Q|AP1G1_ENST00000393512.3_Silent_p.Q791Q|AP1G1_ENST00000564155.1_Silent_p.Q213Q	NM_001128.5	NP_001119.3	O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	788	GAE.				endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				TACTCACCTTCTGAGGGTTCA	0.428													T	71768515	C	T	71768515	2	4	364	1	0	0	0	0	0	0	0	1	734	912	32	2		2	AP1G1	16	71768515	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32003	71768515	18586238	11812	35314											
AP1G1	164	broad.mit.edu	37	chr16	71803439	71803440	+	Splice_Site	INS	-	-	A																															cagatccatagcttgctttcINSaaaaaaaaataagaagaaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71803439_71803440insA	ENST00000423132.2	-	7	921	c.643_643insT	c.(643-645)gaa>Tgaa	p.E215fs	AP1G1_ENST00000569748.1_Intron|AP1G1_ENST00000393512.3_Intron|AP1G1_ENST00000299980.4_Intron|AP1G1_ENST00000433195.2_Intron			O43747	AP1G1_HUMAN	adaptor-related protein complex 1, gamma 1 subunit	214					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|recycling endosome	kinesin binding|protein transporter activity			breast(1)|endometrium(8)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|urinary_tract(1)	28		Ovarian(137;0.125)				AGCTTGCTTTCAAAAAAAAATA	0.376													A	71803440	-	A	71803439	8	5	364	1	0	1	1	0	0	0	1	0	734	841	29	0		0	AP1G1	16	71803439	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	34924	71803439	18551314	11813	35315											
ZNF821	55565	broad.mit.edu	37	chr16	71898054	71898054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatacctggtacacgtgaGcaatcaactgctcccggctc	9	9	8	15	2	1	1	1	1	0	0	4	1	3	1	3	2	5	4	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:71898054G>A	ENST00000425432.1	-	6	783	c.404C>T	c.(403-405)gCt>gTt	p.A135V	ZNF821_ENST00000446827.2_Missense_Mutation_p.A93V|ZNF821_ENST00000564134.1_Missense_Mutation_p.A134V|ZNF821_ENST00000565601.1_Missense_Mutation_p.A135V|ZNF821_ENST00000313565.6_Missense_Mutation_p.A93V|ATXN1L_ENST00000569119.1_Intron|ZNF821_ENST00000564943.1_5'UTR	NM_001201552.1	NP_001188481.1	O75541	ZN821_HUMAN	zinc finger protein 821	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|ovary(2)	13						GTACACGTGAGCAATCAACTG	0.552													A	71898054	G	A	71898054	3	1	364	1	0	0	0	0	1	0	0	0	18277	971	34	2	846	2	ZNF821	16	71898054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94615	71898054	18456699	11814	35316											
DHODH	1723	broad.mit.edu	37	chr16	72046120	72046120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgttcgcttcacctccctgGggctccttccacgggccaga	4	10	10	17	2	1	1	1	0	0	1	5	1	4	1	5	3	0	3	5	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72046120G>A	ENST00000572887.1	+	2	370	c.193G>A	c.(193-195)Ggg>Agg	p.G65R	DHODH_ENST00000219240.4_Missense_Mutation_p.G65R			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	65					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	CACCTCCCTGGGGCTCCTTCC	0.562													A	72046120	G	A	72046120	3	1	364	1	0	0	0	0	1	0	0	0	4523	1232	43	2	199	2	DHODH	16	72046120	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148066	72046120	18308633	11815	35317											
HP	3240	broad.mit.edu	37	chr16	72090136	72090136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggcaatgatgtcacggatAtcgcaggtcagtctttggtt	9	12	12	8	2	3	1	2	1	1	0	4	2	3	2	0	4	0	3	0	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72090136A>G	ENST00000357763.4	+	2	109	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	HP_ENST00000569639.1_Missense_Mutation_p.I28V|HP_ENST00000355906.5_Missense_Mutation_p.I28V|HP_ENST00000562526.1_Missense_Mutation_p.I28V|HP_ENST00000398131.2_Missense_Mutation_p.I28V|HP_ENST00000565574.1_Missense_Mutation_p.I28V|HP_ENST00000570083.1_Missense_Mutation_p.I28V|HPR_ENST00000356967.5_Intron			P00738	HPT_HUMAN	haptoglobin	28					cellular iron ion homeostasis|defense response|negative regulation of hydrogen peroxide catabolic process|negative regulation of oxidoreductase activity|positive regulation of cell death|proteolysis|response to hydrogen peroxide	extracellular region|haptoglobin-hemoglobin complex	hemoglobin binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|urinary_tract(1)	7		Renal(780;9.67e-05)|Ovarian(137;0.00327)|Hepatocellular(780;0.114)		BRCA - Breast invasive adenocarcinoma(221;0.00015)|Kidney(780;0.000529)		TGTCACGGATATCGCAGGTCA	0.552													G	72090136	A	G	72090136	3	3	364	1	0	0	0	0	1	0	0	0	7382	449	16	3	88	3	HP	16	72090136	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44016	72090136	18264617	11816	35318											
TXNL4B	54957	broad.mit.edu	37	chr16	72122928	72122928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccattgaagaaaaagacaGtagatggaatataactgatg	18	8	10	5	0	0	5	0	2	0	3	0	6	0	6	1	1	1	1	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72122928G>A	ENST00000268483.3	-	3	563	c.242C>T	c.(241-243)aCt>aTt	p.T81I	TXNL4B_ENST00000423037.1_Missense_Mutation_p.T81I|TXNL4B_ENST00000426362.2_Missense_Mutation_p.T81I	NM_001142318.1|NM_017853.2	NP_001135790.1|NP_060323.1	Q9NX01	TXN4B_HUMAN	thioredoxin-like 4B	81					mitosis|mRNA processing|RNA splicing	spliceosomal complex				cervix(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)	8						GAAAAAGACAGTAGATGGAAT	0.368													A	72122928	G	A	72122928	3	1	364	1	0	0	0	0	1	0	0	0	16908	1029	36	2	215	2	TXNL4B	16	72122928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32792	72122928	18231825	11817	35319											
DHX38	9785	broad.mit.edu	37	chr16	72130083	72130083	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacaccagtgaggatgcctcGatccatcgattggaaggcac	11	7	12	11	2	0	1	0	1	0	0	3	6	1	3	3	3	1	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72130083G>A	ENST00000268482.3	+	2	536	c.27G>A	c.(25-27)tcG>tcA	p.S9S	DHX38_ENST00000536867.1_Silent_p.S9S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	9					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				AGGATGCCTCGATCCATCGAT	0.517													A	72130083	G	A	72130083	2	1	364	1	0	0	0	0	0	0	0	1	4550	1045	37	1		1	DHX38	16	72130083	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7155	72130083	18224670	11818	35320											
DHX38	9785	broad.mit.edu	37	chr16	72141254	72141254	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggctctacacccagagCgcctacaagaatgagctcct	11	6	10	14	1	1	3	0	1	1	2	2	3	2	3	3	2	4	3	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141254C>T	ENST00000268482.3	+	20	3125	c.2616C>T	c.(2614-2616)agC>agT	p.S872S	DHX38_ENST00000536867.1_Silent_p.S184S	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	872	Helicase C-terminal.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				ACACCCAGAGCGCCTACAAGA	0.592													T	72141254	C	T	72141254	2	4	364	1	0	0	0	0	0	0	0	1	4550	767	27	1		1	DHX38	16	72141254	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11171	72141254	18213499	11819	35321											
DHX38	9785	broad.mit.edu	37	chr16	72141442	72141442	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcctcggggccctggacaAcacaggtgaggcggccccgg	7	4	16	14	3	0	1	0	1	0	0	2	3	1	2	4	7	1	0	4	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72141442A>C	ENST00000268482.3	+	20	3313	c.2804A>C	c.(2803-2805)aAc>aCc	p.N935T	DHX38_ENST00000536867.1_Missense_Mutation_p.N247T	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	935					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GCCCTGGACAACACAGGTGAG	0.592													C	72141442	A	C	72141442	3	2	364	1	0	0	0	0	1	0	0	0	4550	43	2	5	2878	5	DHX38	16	72141442	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	188	72141442	18213311	11820	35322											
PMFBP1	83449	broad.mit.edu	37	chr16	72162984	72162984	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtcttgtctttctttttaAattcctgccgcaaagcttca	7	17	5	12	2	4	0	1	0	3	0	5	0	5	0	3	0	2	2	3	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72162984A>C	ENST00000537465.1	-	13	2104	c.1946T>G	c.(1945-1947)tTt>tGt	p.F649C	PMFBP1_ENST00000237353.10_Missense_Mutation_p.F644C|PMFBP1_ENST00000355636.6_Missense_Mutation_p.F499C			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	649										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				TTTCTTTTTAAATTCCTGCCG	0.542													C	72162984	A	C	72162984	3	2	364	1	0	0	0	0	1	0	0	0	12211	14	1	5	1188	5	PMFBP1	16	72162984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21542	72162984	18191769	11821	35323											
PMFBP1	83449	broad.mit.edu	37	chr16	72164161	72164161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcatatcctgctcaGccactgtcttctgaagctgc	7	15	6	13	0	5	1	3	1	2	0	6	1	6	1	2	0	4	2	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72164161G>A	ENST00000537465.1	-	12	1906	c.1748C>T	c.(1747-1749)gCt>gTt	p.A583V	PMFBP1_ENST00000237353.10_Missense_Mutation_p.A578V|PMFBP1_ENST00000355636.6_Missense_Mutation_p.A433V			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	583										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				ATCCTGCTCAGCCACTGTCTT	0.463													A	72164161	G	A	72164161	3	1	364	1	0	0	0	0	1	0	0	0	12211	971	34	2	1390	2	PMFBP1	16	72164161	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1177	72164161	18190592	11822	35324											
ZFHX3	463	broad.mit.edu	37	chr16	72828427	72828427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcttggctttgaagagCgctctgcaaaaagggcatct	10	10	12	9	1	3	2	0	1	3	1	3	2	3	2	0	2	2	5	0	2	3	2	rs150499144	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72828427C>T	ENST00000268489.5	-	9	8826	c.8154G>A	c.(8152-8154)gcG>gcA	p.A2718A	ZFHX3_ENST00000397992.5_Silent_p.A1804A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2718					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTGAAGAGCGCTCTGCAAA	0.557													T	72828427	C	T	72828427	2	4	364	1	0	0	0	0	0	0	0	1	17735	755	27	1		1	ZFHX3	16	72828427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	664266	72828427	17526326	11823	35325											
ZFHX3	463	broad.mit.edu	37	chr16	72832394	72832394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtacttgtacacatggCgatctgacaccggcagctga	10	8	12	11	3	1	2	0	2	1	0	1	3	1	2	1	3	4	4	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72832394C>T	ENST00000268489.5	-	9	4859	c.4187G>A	c.(4186-4188)cGc>cAc	p.R1396H	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R482H	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1396					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GTACACATGGCGATCTGACAC	0.502													T	72832394	C	T	72832394	3	4	364	1	0	0	0	0	1	0	0	0	17735	768	27	1	6932	1	ZFHX3	16	72832394	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3967	72832394	17522359	11824	35326											
ZFHX3	463	broad.mit.edu	37	chr16	72992225	72992225	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcaccctctgtgcttTcatttggttctggtgctgtg	3	17	10	11	1	4	0	2	0	2	0	5	0	4	0	1	2	2	3	1	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992225T>C	ENST00000268489.5	-	2	2492	c.1820A>G	c.(1819-1821)gAa>gGa	p.E607G	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	607					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTGTGCTTTCATTTGGTTC	0.617													C	72992225	T	C	72992225	3	2	364	1	0	0	0	0	1	0	0	0	17735	1783	62	3	9327	3	ZFHX3	16	72992225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	159831	72992225	17362528	11825	35327											
ZFHX3	463	broad.mit.edu	37	chr16	72992774	72992774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatttggtaggactggaaGccagaggccccagggggact	10	6	17	8	0	0	1	0	0	0	1	0	5	0	5	3	7	1	1	3	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:72992774G>T	ENST00000268489.5	-	2	1943	c.1271C>A	c.(1270-1272)gCt>gAt	p.A424D	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	424					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				AGGACTGGAAGCCAGAGGCCC	0.607													T	72992774	G	T	72992774	3	4	364	1	0	0	0	0	1	0	0	0	17735	971	34	4	9876	4	ZFHX3	16	72992774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	549	72992774	17361979	11826	35328											
CLEC18B	497190	broad.mit.edu	37	chr16	74447532	74447532	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctggcctgcagagcacaGgtgccgcccacagcccagct	7	6	12	16	1	1	1	0	0	1	1	1	1	1	1	4	2	5	3	4	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74447532G>T	ENST00000339953.5	-	4	620	c.499C>A	c.(499-501)Ctg>Atg	p.L167M		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	167	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GCAGAGCACAGGTGCCGCCCA	0.617													T	74447532	G	T	74447532	3	4	364	1	0	0	0	0	1	0	0	0	3534	991	35	4	908	4	CLEC18B	16	74447532	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1454758	74447532	15907221	11827	35329											
CLEC18B	497190	broad.mit.edu	37	chr16	74451985	74451985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgggtgcaggtggcgttgCgagcacactctcctgccgcg	5	8	16	12	4	1	0	0	0	1	0	2	1	1	0	2	3	4	3	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74451985C>T	ENST00000339953.5	-	3	549	c.428G>A	c.(427-429)cGc>cAc	p.R143H		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	143	SCP.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGGCGTTGCGAGCACACTC	0.627													T	74451985	C	T	74451985	3	4	364	1	0	0	0	0	1	0	0	0	3534	768	27	1	983	1	CLEC18B	16	74451985	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4453	74451985	15902768	11828	35330											
GLG1	2734	broad.mit.edu	37	chr16	74490600	74490600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attgaggcgctttttgcactCgggctgtaacctcacccgct	6	12	10	13	3	1	1	1	1	0	0	2	1	1	1	2	2	2	5	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74490600C>T	ENST00000422840.2	-	25	3318	c.3319G>A	c.(3319-3321)Gag>Aag	p.E1107K	GLG1_ENST00000205061.5_Missense_Mutation_p.E1107K|GLG1_ENST00000447066.2_Missense_Mutation_p.E1096K	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1107						Golgi membrane|integral to membrane	receptor binding	p.E1107K(1)		breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						TTTTTGCACTCGGGCTGTAAC	0.418													T	74490600	C	T	74490600	3	4	364	1	0	0	0	0	1	0	0	0	6492	893	31	1	308	1	GLG1	16	74490600	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38615	74490600	15864153	11829	35331											
RFWD3	55159	broad.mit.edu	37	chr16	74678318	74678318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggttcgggcataaaggaCgacaatgtcactgtgcctgg	10	8	14	9	2	1	0	1	0	0	0	2	2	1	1	1	4	1	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74678318C>T	ENST00000361070.4	-	6	1118	c.1021G>A	c.(1021-1023)Gtc>Atc	p.V341I	RFWD3_ENST00000571750.1_Missense_Mutation_p.V341I	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	341					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						GCATAAAGGACGACAATGTCA	0.458													T	74678318	C	T	74678318	3	4	364	1	0	0	0	0	1	0	0	0	13349	536	19	1	1335	1	RFWD3	16	74678318	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187718	74678318	15676435	11830	35332											
MLKL	197259	broad.mit.edu	37	chr16	74719482	74719482	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagtctgcctcactattCtataaggattaaagagagaa	16	11	8	6	0	3	3	1	1	2	2	3	5	3	4	1	1	1	0	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74719482C>A	ENST00000308807.7	-	5	1186		c.e5-1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like								ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						CCTCACTATTCTATAAGGATT	0.418													A	74719482	C	A	74719482	5	1	364	1	0	0	0	0	0	0	1	0	9694	927	32	4	752	4	MLKL	16	74719482	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41164	74719482	15635271	11831	35333											
MLKL	197259	broad.mit.edu	37	chr16	74729471	74729471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccttgaagcggttcAtggctgtggttaacttctca	7	12	13	9	1	2	1	2	1	1	0	3	1	2	1	1	4	3	4	1	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:74729471A>G	ENST00000308807.7	-	2	648	c.185T>C	c.(184-186)aTg>aCg	p.M62T	MLKL_ENST00000306247.7_Missense_Mutation_p.M62T	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	62							ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						GAAGCGGTTCATGGCTGTGGT	0.552													G	74729471	A	G	74729471	3	3	364	1	0	0	0	0	1	0	0	0	9694	217	8	3	1301	3	MLKL	16	74729471	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9989	74729471	15625282	11832	35334											
CTRB2	440387	broad.mit.edu	37	chr16	75238090	75238090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaggatcttctgcacccagGgtatgagcttggcgacacgg	8	8	13	12	2	2	1	0	1	2	0	2	3	2	2	2	4	2	3	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75238090G>T	ENST00000303037.8	-	7	804	c.761C>A	c.(760-762)cCc>cAc	p.P254H		NM_001025200.3	NP_001020371.3	Q6GPI1	CTRB2_HUMAN	chymotrypsinogen B2	254	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTGCACCCAGGGTATGAGCTT	0.612													T	75238090	G	T	75238090	3	4	364	1	0	0	0	0	1	0	0	0	4059	1232	43	4	34	4	CTRB2	16	75238090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	508619	75238090	15116663	11833	35335											
BCAR1	9564	broad.mit.edu	37	chr16	75263741	75263741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaagaaggcgtccacggCgttggtcagtgtggtcaggt	8	9	17	7	3	2	1	2	0	0	1	3	1	3	1	1	6	0	2	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75263741C>T	ENST00000546196.1	-	7	3846	c.2194G>A	c.(2194-2196)Gcc>Acc	p.A732T	BCAR1_ENST00000162330.5_Missense_Mutation_p.A761T|BCAR1_ENST00000393422.2_Missense_Mutation_p.A779T|BCAR1_ENST00000420641.3_Missense_Mutation_p.A779T|BCAR1_ENST00000393420.6_Missense_Mutation_p.A779T|BCAR1_ENST00000538440.2_Missense_Mutation_p.A761T|BCAR1_ENST00000418647.3_Missense_Mutation_p.A807T|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000542031.2_Missense_Mutation_p.A759T|BCAR1_ENST00000535626.2_Missense_Mutation_p.A613T			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	761					actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		GCGTCCACGGCGTTGGTCAGT	0.652													T	75263741	C	T	75263741	3	4	364	1	0	0	0	0	1	0	0	0	1353	768	27	1	335	1	BCAR1	16	75263741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25651	75263741	15091012	11834	35336											
CHST6	4166	broad.mit.edu	37	chr16	75513169	75513169	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcggggtcgctgagcagCgggtagagcacctgcaggtt	7	6	18	10	4	0	2	0	1	0	1	1	2	0	2	1	4	5	6	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75513169C>A	ENST00000332272.4	-	3	737	c.558G>T	c.(556-558)ccG>ccT	p.P186P	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Silent_p.P186P	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	186					keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGCTGAGCAGCGGGTAGAGCA	0.706													A	75513169	C	A	75513169	2	1	364	1	0	0	0	0	0	0	0	1	3438	755	27	4		4	CHST6	16	75513169	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249428	75513169	14841584	11835	35337											
TMEM231	79583	broad.mit.edu	37	chr16	75573914	75573914	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggataagtgctccttacacAagtctccccggggcgtcact	9	9	10	13	2	2	0	1	0	1	0	4	1	3	1	3	3	2	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:75573914A>G	ENST00000568377.1	-	6	1054	c.1016T>C	c.(1015-1017)tTg>tCg	p.L339S	TMEM231_ENST00000258173.6_Missense_Mutation_p.L310S|RP11-77K12.7_ENST00000460606.1_Intron|TMEM231_ENST00000565067.1_Missense_Mutation_p.L262S	NM_001077416.1	NP_001070884	Q9H6L2	TM231_HUMAN	transmembrane protein 231							integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CTCCTTACACAAGTCTCCCCG	0.483													G	75573914	A	G	75573914	3	3	364	1	0	0	0	0	1	0	0	0	16249	131	5	3	25	3	TMEM231	16	75573914	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60745	75573914	14780839	11836	35338											
CNTNAP4	85445	broad.mit.edu	37	chr16	76350288	76350288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcactaactaaccctaacGtggcattgttcctcctggca	10	10	7	14	1	0	0	0	0	0	0	2	0	2	0	3	2	4	4	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350288G>A	ENST00000476707.1	+	1	212	c.73G>A	c.(73-75)Gtg>Atg	p.V25M	CNTNAP4_ENST00000307431.8_Intron|CNTNAP4_ENST00000469589.1_Intron|CNTNAP4_ENST00000478060.1_Intron|CNTNAP4_ENST00000377504.4_Intron			Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	0					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TAACCCTAACGTGGCATTGTT	0.448													A	76350288	G	A	76350288	3	1	364	1	0	0	0	0	1	0	0	0	3680	1160	40	1		1	CNTNAP4	16	76350288	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	776374	76350288	14004465	11837	35339											
CNTNAP4	85445	broad.mit.edu	37	chr16	76350360	76350360	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcaggcatccttcagcAgttcttccgagctctccagc	6	11	8	16	1	4	0	2	0	2	0	7	1	6	0	4	1	4	4	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:76350360A>C	ENST00000307431.8	+	3	518	c.133A>C	c.(133-135)Agt>Cgt	p.S45R	CNTNAP4_ENST00000476707.1_Missense_Mutation_p.S49R|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000478060.1_Missense_Mutation_p.S21R|CNTNAP4_ENST00000377504.4_Missense_Mutation_p.S45R	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	46	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATCCTTCAGCAGTTCTTCCGA	0.498													C	76350360	A	C	76350360	3	2	364	1	0	0	0	0	1	0	0	0	3680	188	7	5	155	5	CNTNAP4	16	76350360	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	72	76350360	14004393	11838	35340											
VAT1L	57687	broad.mit.edu	37	chr16	77850856	77850856	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgatggtgcgacaagggaAtattgacaaccctcccaaga	13	8	10	10	1	0	3	0	2	0	1	1	5	1	4	2	2	2	0	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:77850856A>T	ENST00000302536.2	+	2	425	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_020927.1	NP_065978.1	Q9HCJ6	VAT1L_HUMAN	vesicle amine transport 1-like	91							oxidoreductase activity|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(10)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24						CGACAAGGGAATATTGACAAC	0.443													T	77850856	A	T	77850856	3	4	364	1	0	0	0	0	1	0	0	0	17232	101	4	5	278	5	VAT1L	16	77850856	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1500496	77850856	12503897	11839	35341											
CLEC3A	10143	broad.mit.edu	37	chr16	78064481	78064481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaactccgacgaaatcaacGccctccaagactatggtaaa	15	6	8	12	3	1	1	1	0	0	1	3	4	3	2	3	2	2	1	3	2	7	2	rs147323906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78064481G>A	ENST00000299642.4	+	3	449	c.364G>A	c.(364-366)Gcc>Acc	p.A122T	RP11-281J9.2_ENST00000563114.1_RNA|CLEC3A_ENST00000575655.1_Missense_Mutation_p.A113T|CLEC3A_ENST00000565808.1_3'UTR	NM_001244755.1	NP_001231684.1	O75596	CLC3A_HUMAN	C-type lectin domain family 3, member A	113	C-type lectin.				skeletal system development	extracellular region	sugar binding			NS(1)|endometrium(2)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	18						CGAAATCAACGCCCTCCAAGA	0.493													A	78064481	G	A	78064481	3	1	364	1	0	0	0	0	1	0	0	0	3541	1087	38	1	347	1	CLEC3A	16	78064481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213625	78064481	12290272	11840	35342											
WWOX	51741	broad.mit.edu	37	chr16	78142332	78142332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaacagtcacaccgaggaGaagactcagtgggaacatcc	14	7	10	10	1	2	2	2	0	0	2	3	5	3	3	2	2	2	0	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78142332G>T	ENST00000566780.1	+	2	486	c.120G>T	c.(118-120)gaG>gaT	p.E40D	WWOX_ENST00000402655.2_Missense_Mutation_p.E40D|WWOX_ENST00000355860.3_Missense_Mutation_p.E40D|WWOX_ENST00000539474.2_Missense_Mutation_p.E40D|WWOX_ENST00000406884.2_Missense_Mutation_p.E40D|WWOX_ENST00000408984.3_Missense_Mutation_p.E40D	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	40	WW 1.				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ACACCGAGGAGAAGACTCAGT	0.338													T	78142332	G	T	78142332	3	4	364	1	0	0	0	0	1	0	0	0	17516	933	33	4	130	4	WWOX	16	78142332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77851	78142332	12212421	11841	35343											
WWOX	51741	broad.mit.edu	37	chr16	78458769	78458769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatattttatttttcaggcCtcttcatgtgcttgtgtgca	6	19	9	7	0	3	0	2	0	1	0	3	1	3	1	1	2	2	2	1	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78458769C>A	ENST00000566780.1	+	7	974	c.608C>A	c.(607-609)cCt>cAt	p.P203H	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.P203H	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	203	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTTTCAGGCCTCTTCATGTG	0.463													A	78458769	C	A	78458769	3	1	364	1	0	0	0	0	1	0	0	0	17516	681	24	4	696	4	WWOX	16	78458769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	316437	78458769	11895984	11842	35344											
WWOX	51741	broad.mit.edu	37	chr16	78466627	78466627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactgctgtttaccttggCgaggcctttcaccaagtcca	8	11	8	14	1	1	0	1	0	0	0	2	1	2	0	4	2	2	2	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:78466627C>T	ENST00000566780.1	+	8	1400	c.1034C>T	c.(1033-1035)gCg>gTg	p.A345V	WWOX_ENST00000402655.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000408984.3_Missense_Mutation_p.A345V	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	345	Interaction with MAPT (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		TTTACCTTGGCGAGGCCTTTC	0.532													T	78466627	C	T	78466627	3	4	364	1	0	0	0	0	1	0	0	0	17516	768	27	1	1126	1	WWOX	16	78466627	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7858	78466627	11888126	11843	35345											
MAF	4094	broad.mit.edu	37	chr16	79633678	79633678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccgcactggctgatgatgCggtcggtctccaccggttcc	4	9	14	14	4	1	2	0	2	1	0	4	2	2	2	4	5	1	3	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633678C>T	ENST00000393350.1	-	1	933	c.122G>A	c.(121-123)cGc>cAc	p.R41H	MAF_ENST00000569649.1_Missense_Mutation_p.R41H|MAF_ENST00000326043.4_Missense_Mutation_p.R41H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	41					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GCTGATGATGCGGTCGGTCTC	0.607			T	IGH@	MM								T	79633678	C	T	79633678	3	4	364	1	0	0	0	0	1	0	0	0	9226	768	27	1	1101	1	MAF	16	79633678	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1167051	79633678	10721075	11844	35346											
MAF	4094	broad.mit.edu	37	chr16	79633850	79633850	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccgccagatgggctgcaGgagaggggccagcgggctgt	6	5	19	11	2	0	2	0	0	0	2	1	3	1	2	3	5	2	4	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:79633850G>T	ENST00000393350.1	-	0	761				MAF_ENST00000326043.4_De_novo_Start_InFrame	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog						transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		ATGGGCTGCAGGAGAGGGGCC	0.721			T	IGH@	MM								T	79633850	G	T	79633850	1	4	364	1	0	0	0	0	0	0	0	0	9226	1015	35	4		4	MAF	16	79633850	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172	79633850	10720903	11845	35347											
ATMIN	23300	broad.mit.edu	37	chr16	81069745	81069745	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgtgcaccgtgcgcggCtgcggcaagatcctgcccaa	7	7	12	15	4	0	1	0	0	0	1	2	1	2	1	4	2	4	3	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81069745C>T	ENST00000299575.4	+	1	294	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	90					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CCGTGCGCGGCTGCGGCAAGA	0.746													T	81069745	C	T	81069745	2	4	364	1	0	0	0	0	0	0	0	1	1115	784	28	2		2	ATMIN	16	81069745	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1435895	81069745	9285008	11846	35348											
ATMIN	23300	broad.mit.edu	37	chr16	81077072	81077072	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgcctacagccgactcCtcagcccagcctgtggtgtt	5	12	10	14	1	1	0	1	0	0	0	2	1	2	0	5	1	5	1	5	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81077072C>A	ENST00000566488.1	+	3	1464	c.501C>A	c.(499-501)tcC>tcA	p.S167S	ATMIN_ENST00000564241.1_Silent_p.S167S|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Silent_p.S323S			O43313	ATMIN_HUMAN	ATM interactor	323					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						CAGCCGACTCCTCAGCCCAGC	0.517													A	81077072	C	A	81077072	2	1	364	1	0	0	0	0	0	0	0	1	1115	668	24	4		4	ATMIN	16	81077072	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7327	81077072	9277681	11847	35349											
PKD1L2	114780	broad.mit.edu	37	chr16	81161375	81161375	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaaccttaccttgacgtgCtttggcgatcagtccccaag	8	11	9	13	2	2	1	2	1	0	0	3	2	3	1	4	1	3	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81161375C>A	ENST00000525539.1	-	0	6339				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000534142.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCTTGACGTGCTTTGGCGATC	0.517													A	81161375	C	A	81161375	1	1	364	0	1	0	0	0	0	0	0	0	12042	797	28	4		4	PKD1L2	16	81161375	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84303	81161375	9193378	11848	35350											
PKD1L2	114780	broad.mit.edu	37	chr16	81181860	81181860	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccttcgcgacccggggaCgggtgttctgaaagatctga	7	9	14	11	4	2	3	0	2	2	1	4	5	3	4	2	3	0	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81181860C>T	ENST00000525539.1	-	0	4855				PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GACCCGGGGACGGGTGTTCTG	0.567													T	81181860	C	T	81181860	1	4	364	0	1	0	0	0	0	0	0	0	12042	536	19	1		1	PKD1L2	16	81181860	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20485	81181860	9172893	11849	35351											
PKD1L2	114780	broad.mit.edu	37	chr16	81232492	81232492	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtggactgtaatgtttcTggagattgtagaggtggtgg	9	13	16	3	0	1	2	0	0	1	2	1	4	1	3	0	5	0	3	0	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232492T>C	ENST00000337114.4	-	0	1317				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GTAATGTTTCTGGAGATTGTA	0.557													C	81232492	T	C	81232492	1	2	364	0	1	0	0	0	0	0	0	0	12042	1588	55	3		3	PKD1L2	16	81232492	RNA	SNP	T	TCGA-DU-6392-01A-11D-1705-08	50632	81232492	9122261	11850	35352											
PKD1L2	114780	broad.mit.edu	37	chr16	81232505	81232505	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtttctggagattgtagaGgtggtggtgttgccggtggc	5	14	18	4	1	1	2	0	0	1	2	1	3	1	2	1	6	1	3	1	6	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81232505G>T	ENST00000337114.4	-	0	1304				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AGATTGTAGAGGTGGTGGTGT	0.567													T	81232505	G	T	81232505	1	4	364	0	1	0	0	0	0	0	0	0	12042	987	35	4		4	PKD1L2	16	81232505	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	81232505	9122248	11851	35353											
GAN	8139	broad.mit.edu	37	chr16	81388172	81388172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacattactgcctccatcacGttcattaccttgccacagaa	11	12	4	14	1	2	1	2	0	0	1	3	1	3	1	4	0	5	1	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81388172G>A	ENST00000568107.2	+	3	607	c.445G>A	c.(445-447)Gtt>Att	p.V149I		NM_022041.3	NP_071324.1	Q9H2C0	GAN_HUMAN	gigaxonin		BACK.				cell death	cytoplasm|neurofilament	protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)	25		Colorectal(91;0.153)				CCTCCATCACGTTCATTACCT	0.458													A	81388172	G	A	81388172	3	1	364	1	0	0	0	0	1	0	0	0	6286	1145	40	1	455	1	GAN	16	81388172	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155667	81388172	8966581	11852	35354											
CMIP	80790	broad.mit.edu	37	chr16	81725387	81725387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctcattctaggtcagacTatgatgactggagaccgtct	9	13	9	10	1	5	4	2	2	3	2	6	5	5	4	1	2	0	0	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81725387T>C	ENST00000537098.3	+	11	1468	c.1396T>C	c.(1396-1398)Tat>Cat	p.Y466H	CMIP_ENST00000539778.2_Missense_Mutation_p.Y372H|CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.Y313H	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	432						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						TAGGTCAGACTATGATGACTG	0.527													C	81725387	T	C	81725387	3	2	364	1	0	0	0	0	1	0	0	0	3609	1522	53	3	1460	3	CMIP	16	81725387	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	337215	81725387	8629366	11853	35355											
PLCG2	5336	broad.mit.edu	37	chr16	81934302	81934302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttcaaggaagtatttggcGacctgctgttgacgaagccc	9	10	11	11	2	1	1	1	1	0	0	1	4	1	2	3	2	2	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81934302G>A	ENST00000359376.3	+	14	1493	c.1279G>A	c.(1279-1281)Gac>Aac	p.D427N		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	427	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGTATTTGGCGACCTGCTGTT	0.612													A	81934302	G	A	81934302	3	1	364	1	0	0	0	0	1	0	0	0	12113	1058	37	1	1329	1	PLCG2	16	81934302	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208915	81934302	8420451	11854	35356											
PLCG2	5336	broad.mit.edu	37	chr16	81954830	81954830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataaactccctctacgacGtcagcagaatgtatgtggat	13	11	8	9	2	2	1	1	0	1	1	3	3	3	2	1	1	3	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:81954830G>A	ENST00000359376.3	+	21	2477	c.2263G>A	c.(2263-2265)Gtc>Atc	p.V755I		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	755					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CCTCTACGACGTCAGCAGAAT	0.428													A	81954830	G	A	81954830	3	1	364	1	0	0	0	0	1	0	0	0	12113	1145	40	1	2341	1	PLCG2	16	81954830	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20528	81954830	8399923	11855	35357											
CDH13	1012	broad.mit.edu	37	chr16	83704395	83704395	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatctgctttgtttgcagTttcaagccacagtcgaggaa	10	12	9	10	1	2	0	1	0	1	0	3	2	2	1	2	1	3	4	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83704395T>G	ENST00000566620.1	+	9	1392	c.1102T>G	c.(1102-1104)Ttt>Gtt	p.F368V	CDH13_ENST00000268613.10_Splice_Site_p.F415V|CDH13_ENST00000428848.3_Splice_Site_p.F329V	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	368	Cadherin 3.				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)		TTGTTTGCAGTTTCAAGCCAC	0.428													G	83704395	T	G	83704395	5	3	364	1	0	0	0	0	0	0	1	0	3129	1739	60	5	1136	5	CDH13	16	83704395	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1749565	83704395	6650358	11856	35358											
MLYCD	23417	broad.mit.edu	37	chr16	83940604	83940604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttttcaggaaatgaatgggGtgctgaaaggaatgctctca	12	11	12	6	0	2	2	2	2	1	0	3	4	2	4	0	4	2	2	0	4	4	2	rs147617160	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83940604G>A	ENST00000262430.4	+	2	560	c.541G>A	c.(541-543)Gtg>Atg	p.V181M		NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	181					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						AATGAATGGGGTGCTGAAAGG	0.473													A	83940604	G	A	83940604	3	1	364	1	0	0	0	0	1	0	0	0	9713	1261	44	2	547	2	MLYCD	16	83940604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236209	83940604	6414149	11857	35359											
MLYCD	23417	broad.mit.edu	37	chr16	83945881	83945881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacaaaatcactgctgCgatcttttattccatcagct	13	12	6	10	1	3	1	2	0	1	1	4	3	4	1	1	0	4	2	1	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83945881C>T	ENST00000262430.4	+	4	876	c.857C>T	c.(856-858)gCg>gTg	p.A286V	RP11-505K9.4_ENST00000561562.1_3'UTR|RP11-505K9.4_ENST00000566309.1_Missense_Mutation_p.A56V	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	286					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						ATCACTGCTGCGATCTTTTAT	0.507													T	83945881	C	T	83945881	3	4	364	1	0	0	0	0	1	0	0	0	9713	768	27	1	871	1	MLYCD	16	83945881	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5277	83945881	6408872	11858	35360											
MLYCD	23417	broad.mit.edu	37	chr16	83948758	83948758	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcctcctcagcagcagCgagtgggtgcagtcggagaa	10	6	14	11	2	1	1	1	0	0	1	4	3	3	1	2	2	5	4	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948758C>T	ENST00000262430.4	+	5	1165	c.1146C>T	c.(1144-1146)agC>agT	p.S382S	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	382					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCAGCAGCAGCGAGTGGGTGC	0.582													T	83948758	C	T	83948758	2	4	364	1	0	0	0	0	0	0	0	1	9713	767	27	1		1	MLYCD	16	83948758	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2877	83948758	6405995	11859	35361											
MLYCD	23417	broad.mit.edu	37	chr16	83948828	83948828	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgtgcgcctggtacCtgtatggagagaagcaccgc	8	8	15	10	2	0	2	0	1	0	1	0	4	0	3	3	3	3	4	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948828C>A	ENST00000262430.4	+	5	1235	c.1216C>A	c.(1216-1218)Ctg>Atg	p.L406M	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	406					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						CGCCTGGTACCTGTATGGAGA	0.647													A	83948828	C	A	83948828	3	1	364	1	0	0	0	0	1	0	0	0	9713	680	24	4	1234	4	MLYCD	16	83948828	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70	83948828	6405925	11860	35362											
MLYCD	23417	broad.mit.edu	37	chr16	83948953	83948953	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaggcatcaccggctcCtgcggcctgatggccaacta	8	7	11	15	2	2	2	2	1	0	1	3	2	3	2	4	4	2	2	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:83948953C>A	ENST00000262430.4	+	5	1360	c.1341C>A	c.(1339-1341)tcC>tcA	p.S447S	RP11-505K9.4_ENST00000561562.1_Intron|RP11-505K9.4_ENST00000566309.1_Intron	NM_012213.2	NP_036345.2	O95822	DCMC_HUMAN	malonyl-CoA decarboxylase	447					acyl-CoA metabolic process|fatty acid biosynthetic process	mitochondrion|peroxisome	malonyl-CoA decarboxylase activity|methylmalonyl-CoA decarboxylase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	12						TCACCGGCTCCTGCGGCCTGA	0.632													A	83948953	C	A	83948953	2	1	364	1	0	0	0	0	0	0	0	1	9713	668	24	4		4	MLYCD	16	83948953	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125	83948953	6405800	11861	35363											
SLC38A8	146167	broad.mit.edu	37	chr16	84050271	84050271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacagccctgaggggtcggCcagggcgctgggcccccatc	5	4	15	17	2	0	1	0	1	0	0	2	1	0	1	5	5	1	1	5	5	0	0	rs140920764		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84050271C>T	ENST00000299709.3	-	8	1014	c.1015G>A	c.(1015-1017)Gcc>Acc	p.A339T		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	339					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GAGGGGTCGGCCAGGGCGCTG	0.647													T	84050271	C	T	84050271	3	4	364	1	0	0	0	0	1	0	0	0	14704	739	26	2	304	2	SLC38A8	16	84050271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101318	84050271	6304482	11862	35364											
SLC38A8	146167	broad.mit.edu	37	chr16	84065494	84065494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgaaggatgggactcacGcacgaggccctggggccaga	10	4	16	11	2	1	2	1	1	0	1	1	5	1	4	2	5	0	1	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84065494G>A	ENST00000299709.3	-	4	609	c.610C>T	c.(610-612)Cgt>Tgt	p.R204C		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	204					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						TGGGACTCACGCACGAGGCCC	0.622													A	84065494	G	A	84065494	3	1	364	1	0	0	0	0	1	0	0	0	14704	1087	38	1	725	1	SLC38A8	16	84065494	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15223	84065494	6289259	11863	35365											
SLC38A8	146167	broad.mit.edu	37	chr16	84075744	84075744	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaaggcccctgcttcCtggggtctgtccctccatgg	3	12	12	14	0	2	0	0	0	2	0	5	1	5	1	5	5	1	1	5	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84075744C>A	ENST00000299709.3	-	1	18	c.19G>T	c.(19-21)Gga>Tga	p.G7*		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	7					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCCCTGCTTCCTGGGGTCTGT	0.587													A	84075744	C	A	84075744	4	1	364	1	0	0	0	0	0	1	0	0	14704	690	24	4	1328	4	SLC38A8	16	84075744	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10250	84075744	6279009	11864	35366											
MBTPS1	8720	broad.mit.edu	37	chr16	84126863	84126863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttggcactccctcatgCtggctatcacacctgccacg	7	10	7	17	1	2	0	2	0	0	0	4	0	4	0	4	2	2	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84126863C>A	ENST00000343411.3	-	6	1271	c.776G>T	c.(775-777)aGc>aTc	p.S259I	MBTPS1_ENST00000569770.1_5'UTR	NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	259	Serine protease.				cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CTCCCTCATGCTGGCTATCAC	0.468													A	84126863	C	A	84126863	3	1	364	1	0	0	0	0	1	0	0	0	9436	797	28	4	2454	4	MBTPS1	16	84126863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51119	84126863	6227890	11865	35367											
HSDL1	83693	broad.mit.edu	37	chr16	84163651	84163651	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaggagccagaagagatCgtgacgatggcacctttctt	11	8	12	10	2	1	3	0	1	1	2	2	6	1	4	2	2	2	2	2	2	1	2	rs148654230	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84163651C>T	ENST00000219439.4	-	4	782	c.606G>A	c.(604-606)acG>acA	p.T202T	HSDL1_ENST00000434463.3_Silent_p.T147T	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	202						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						CAGAAGAGATCGTGACGATGG	0.483													T	84163651	C	T	84163651	2	4	364	1	0	0	0	0	0	0	0	1	7448	871	31	1		1	HSDL1	16	84163651	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36788	84163651	6191102	11866	35368											
ADAD2	161931	broad.mit.edu	37	chr16	84228961	84228961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctggtggctctgggcaccGgcagcagctgctgtgctggc	4	8	17	12	1	1	0	0	0	1	0	1	0	1	0	1	5	5	8	1	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84228961G>A	ENST00000268624.3	+	6	1132	c.1039G>A	c.(1039-1041)Ggc>Agc	p.G347S	ADAD2_ENST00000315906.5_Missense_Mutation_p.G265S|RP11-486L19.2_ENST00000569834.1_RNA|RP11-486L19.2_ENST00000565643.1_RNA|RP11-486L19.2_ENST00000536986.1_RNA	NM_139174.3	NP_631913.3	Q8NCV1	ADAD2_HUMAN	adenosine deaminase domain containing 2	265	A to I editase.				RNA processing	intracellular	adenosine deaminase activity|double-stranded RNA binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|skin(1)	13						TCTGGGCACCGGCAGCAGCTG	0.682													A	84228961	G	A	84228961	3	1	364	1	0	0	0	0	1	0	0	0	232	1116	39	1	1061	1	ADAD2	16	84228961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65310	84228961	6125792	11867	35369											
KCNG4	93107	broad.mit.edu	37	chr16	84270343	84270343	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccgctcacctggtccTcctctgccctgaggtcgggc	4	8	13	16	2	2	2	1	1	1	1	5	2	4	2	5	4	1	1	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84270343T>A	ENST00000568181.1	-	2	869	c.749A>T	c.(748-750)gAg>gTg	p.E250V	KCNG4_ENST00000308251.4_Missense_Mutation_p.E250V			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	250						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CACCTGGTCCTCCTCTGCCCT	0.617													A	84270343	T	A	84270343	3	1	364	1	0	0	0	0	1	0	0	0	8088	1551	54	5	816	5	KCNG4	16	84270343	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	41382	84270343	6084410	11868	35370											
ATP2C2	9914	broad.mit.edu	37	chr16	84444186	84444186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctaggcagtgcttgtcGtggtcactgtcgccttcatc	4	14	11	12	2	3	0	2	0	1	0	6	0	3	0	1	2	1	2	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84444186G>A	ENST00000416219.2	+	5	519	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Missense_Mutation_p.V144M			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	144					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						AGTGCTTGTCGTGGTCACTGT	0.582													A	84444186	G	A	84444186	3	1	364	1	0	0	0	0	1	0	0	0	1149	1145	40	1	448	1	ATP2C2	16	84444186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	173843	84444186	5910567	11869	35371											
ATP2C2	9914	broad.mit.edu	37	chr16	84472889	84472889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagttacccatcgtggaGactttaggtgagggactcca	12	9	12	8	1	0	3	0	1	0	2	2	5	1	4	2	3	1	1	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84472889G>A	ENST00000416219.2	+	12	1193	c.1104G>A	c.(1102-1104)gaG>gaA	p.E368E	ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.E368E			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	368					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						CCATCGTGGAGACTTTAGGTG	0.572													A	84472889	G	A	84472889	2	1	364	1	0	0	0	0	0	0	0	1	1149	933	33	2		2	ATP2C2	16	84472889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28703	84472889	5881864	11870	35372											
ATP2C2	9914	broad.mit.edu	37	chr16	84497225	84497225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcccttggcagatttgCtgtttttaactggattggcc	5	18	9	9	0	1	1	0	0	1	1	2	2	1	2	2	3	2	3	2	3	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84497225C>T	ENST00000416219.2	+	28	2904	c.2815C>T	c.(2815-2817)Ctg>Ttg	p.L939L	RP11-517C16.2_ENST00000565700.1_RNA|ATP2C2_ENST00000420010.2_3'UTR|ATP2C2_ENST00000262429.4_Silent_p.L910L			O75185	AT2C2_HUMAN	ATPase, Ca++ transporting, type 2C, member 2	910					ATP biosynthetic process	Golgi membrane|integral to membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(3)|skin(5)|urinary_tract(1)	33						GGCAGATTTGCTGTTTTTAAC	0.502													T	84497225	C	T	84497225	2	4	364	1	0	0	0	0	0	0	0	1	1149	796	28	2		2	ATP2C2	16	84497225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24336	84497225	5857528	11871	35373											
KLHL36	79786	broad.mit.edu	37	chr16	84695193	84695193	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaccctgcaggttcacgtaCggccacgcgggcaccatcta	8	6	11	16	5	2	0	1	0	1	0	2	1	2	0	3	3	2	4	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695193C>T	ENST00000564996.1	+	5	1446	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	KLHL36_ENST00000258157.5_Silent_p.Y372Y	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	435										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						GGTTCACGTACGGCCACGCGG	0.622													T	84695193	C	T	84695193	2	4	364	1	0	0	0	0	0	0	0	1	8447	547	19	1		1	KLHL36	16	84695193	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	197968	84695193	5659560	11872	35374											
KLHL36	79786	broad.mit.edu	37	chr16	84695222	84695222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccatctacaaagactTcgtgtacatctcggggggcc	9	8	12	12	2	2	1	0	0	2	1	4	1	2	1	2	4	2	2	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84695222T>C	ENST00000564996.1	+	5	1475	c.1334T>C	c.(1333-1335)tTc>tCc	p.F445S	KLHL36_ENST00000258157.5_Missense_Mutation_p.F382S	NM_024731.2	NP_079007.2	Q8N4N3	KLH36_HUMAN	kelch-like family member 36	445										endometrium(3)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TACAAAGACTTCGTGTACATC	0.637													C	84695222	T	C	84695222	3	2	364	1	0	0	0	0	1	0	0	0	8447	1783	62	3	1348	3	KLHL36	16	84695222	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29	84695222	5659531	11873	35375											
USP10	9100	broad.mit.edu	37	chr16	84778569	84778569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggccacctggatattacaGctatttgaaagatggtggcg	10	10	13	8	2	0	2	0	1	0	1	0	3	0	3	2	4	2	1	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84778569G>T	ENST00000219473.7	+	4	595	c.482G>T	c.(481-483)aGc>aTc	p.S161I	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.S165I	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	161					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGATATTACAGCTATTTGAAA	0.478													T	84778569	G	T	84778569	3	4	364	1	0	0	0	0	1	0	0	0	17143	971	34	4	496	4	USP10	16	84778569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83347	84778569	5576184	11874	35376											
USP10	9100	broad.mit.edu	37	chr16	84779110	84779110	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcagccagcccaagtcCtgggccagcctctttcatga	7	9	9	16	0	3	1	2	1	1	0	4	1	4	1	6	1	3	0	6	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84779110C>A	ENST00000219473.7	+	4	1136	c.1023C>A	c.(1021-1023)tcC>tcA	p.S341S	USP10_ENST00000570191.1_Silent_p.S345S	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	341					DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						AGCCCAAGTCCTGGGCCAGCC	0.572													A	84779110	C	A	84779110	2	1	364	1	0	0	0	0	0	0	0	1	17143	668	24	4		4	USP10	16	84779110	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541	84779110	5575643	11875	35377											
CRISPLD2	83716	broad.mit.edu	37	chr16	84872224	84872224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagcaaataccagcacaaCgagtctcactcccgggtccg	11	6	8	16	3	2	0	2	0	1	0	5	1	4	0	3	1	4	2	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:84872224C>T	ENST00000262424.5	+	2	347	c.123C>T	c.(121-123)aaC>aaT	p.N41N	CRISPLD2_ENST00000564567.1_Silent_p.N41N|CRISPLD2_ENST00000569090.1_Silent_p.N41N|CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Silent_p.N41N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	41						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						ACCAGCACAACGAGTCTCACT	0.607													T	84872224	C	T	84872224	2	4	364	1	0	0	0	0	0	0	0	1	3914	535	19	1		1	CRISPLD2	16	84872224	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93114	84872224	5482529	11876	35378											
ZDHHC7	55625	broad.mit.edu	37	chr16	85010773	85010773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgaaaaacagaagaccCtcaaggcacaggaagatcaa	21	3	9	8	0	2	4	2	1	0	3	2	5	2	5	1	2	1	1	1	2	7	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85010773C>A	ENST00000313732.4	-	7	1030	c.678G>T	c.(676-678)gaG>gaT	p.E226D	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.E263D|ZDHHC7_ENST00000569488.1_5'UTR	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	226						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						ACAGAAGACCCTCAAGGCACA	0.458													A	85010773	C	A	85010773	3	1	364	1	0	0	0	0	1	0	0	0	17721	680	24	4	256	4	ZDHHC7	16	85010773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138549	85010773	5343980	11877	35379											
KIAA0513	9764	broad.mit.edu	37	chr16	85100902	85100902	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccgccgttcctcctccaaCgagtccttctcctccaacca	7	9	5	20	3	1	0	0	0	1	0	7	2	6	0	9	0	2	1	9	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85100902C>T	ENST00000566428.1	+	2	856	c.225C>T	c.(223-225)aaC>aaT	p.N75N	KIAA0513_ENST00000567328.1_Silent_p.N75N|KIAA0513_ENST00000258180.3_Silent_p.N75N|KIAA0513_ENST00000538274.1_Silent_p.N75N			O60268	K0513_HUMAN	KIAA0513	75						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		CCTCCTCCAACGAGTCCTTCT	0.587													T	85100902	C	T	85100902	2	4	364	1	0	0	0	0	0	0	0	1	8239	535	19	1		1	KIAA0513	16	85100902	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90129	85100902	5253851	11878	35380											
KIAA0513	9764	broad.mit.edu	37	chr16	85121920	85121920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgaccacattgagcaaatgGccactgagtaggccccagag	12	6	12	11	0	0	4	0	3	0	1	0	4	0	4	4	2	1	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85121920G>A	ENST00000566428.1	+	13	1856	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	KIAA0513_ENST00000258180.3_Missense_Mutation_p.A409T|KIAA0513_ENST00000538274.1_Missense_Mutation_p.A399T			O60268	K0513_HUMAN	KIAA0513	409						cytoplasm				breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(2)|lung(9)|pancreas(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.234)		TGAGCAAATGGCCACTGAGTA	0.562													A	85121920	G	A	85121920	3	1	364	1	0	0	0	0	1	0	0	0	8239	1203	42	2	1271	2	KIAA0513	16	85121920	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21018	85121920	5232833	11879	35381											
GINS2	51659	broad.mit.edu	37	chr16	85721174	85721174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagggttaaaaggccccaGgtccccctgccaaaagtaaa	14	5	9	13	0	0	0	0	0	0	0	1	0	1	0	6	3	1	2	6	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85721174G>T	ENST00000253462.3	-	2	197	c.97C>A	c.(97-99)Ctg>Atg	p.L33M		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	33					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						AAAGGCCCCAGGTCCCCCTGC	0.473													T	85721174	G	T	85721174	3	4	364	1	0	0	0	0	1	0	0	0	6444	991	35	4	476	4	GINS2	16	85721174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	599254	85721174	4633579	11880	35382											
IRF8	3394	broad.mit.edu	37	chr16	85936747	85936747	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccggatcccttggaaacaCgctggcaagcaagattataa	13	9	9	10	2	0	1	0	0	0	1	2	3	2	3	2	3	2	3	2	3	5	4	rs150193781		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85936747C>T	ENST00000268638.5	+	2	548	c.126C>T	c.(124-126)caC>caT	p.H42H	IRF8_ENST00000563180.1_Silent_p.H42H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	42					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				CTTGGAAACACGCTGGCAAGC	0.507													T	85936747	C	T	85936747	2	4	364	1	0	0	0	0	0	0	0	1	7894	535	19	1		1	IRF8	16	85936747	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	215573	85936747	4418006	11881	35383											
IRF8	3394	broad.mit.edu	37	chr16	85942614	85942614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcctgggcagtttttaaaGggaagtttaaagaaggggac	13	9	15	4	0	0	1	0	0	0	1	0	3	0	3	1	5	0	3	1	5	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942614G>T	ENST00000268638.5	+	3	615	c.193G>T	c.(193-195)Ggg>Tgg	p.G65W	IRF8_ENST00000563180.1_Missense_Mutation_p.G65W	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	65					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				AGTTTTTAAAGGGAAGTTTAA	0.473													T	85942614	G	T	85942614	3	4	364	1	0	0	0	0	1	0	0	0	7894	1000	35	4	199	4	IRF8	16	85942614	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5867	85942614	4412139	11882	35384											
IRF8	3394	broad.mit.edu	37	chr16	85942776	85942776	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttcctgaggaagagcaaAaatgtaactatcctttatgg	13	13	9	6	0	0	2	0	1	0	1	2	3	2	3	2	2	2	3	2	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85942776A>C	ENST00000268638.5	+	3	777	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	IRF8_ENST00000563180.1_Missense_Mutation_p.K119Q	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	119					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GGAAGAGCAAAAATGTAACTA	0.493													C	85942776	A	C	85942776	3	2	364	1	0	0	0	0	1	0	0	0	7894	15	1	5	361	5	IRF8	16	85942776	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	162	85942776	4411977	11883	35385											
IRF8	3394	broad.mit.edu	37	chr16	85953808	85953808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggatatggcccccttgcGctccaaactcattctcgtgc	6	11	8	16	3	2	0	1	0	1	0	5	1	4	1	4	2	3	1	4	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:85953808G>A	ENST00000268638.5	+	8	1504	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	IRF8_ENST00000562492.1_Missense_Mutation_p.R157H	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	361					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				GCCCCCTTGCGCTCCAAACTC	0.502													A	85953808	G	A	85953808	3	1	364	1	0	0	0	0	1	0	0	0	7894	1087	38	1	1108	1	IRF8	16	85953808	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11032	85953808	4400945	11884	35386											
MTHFSD	64779	broad.mit.edu	37	chr16	86575410	86575410	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgtgctcctcaacaagctCttcagggatgtccacgacct	8	10	9	14	2	3	0	2	0	1	0	6	2	5	1	3	1	3	2	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86575410C>A	ENST00000322911.6	-	7	621	c.571G>T	c.(571-573)Gag>Tag	p.E191*	MTHFSD_ENST00000546093.1_Nonsense_Mutation_p.E29*|MTHFSD_ENST00000543303.2_Nonsense_Mutation_p.E191*|MTHFSD_ENST00000381214.5_Nonsense_Mutation_p.E192*|MTHFSD_ENST00000360900.6_Nonsense_Mutation_p.E192*	NM_001159377.1|NM_022764.2	NP_001152849.1|NP_073601.2	Q2M296	MTHSD_HUMAN	methenyltetrahydrofolate synthetase domain containing	192					folic acid-containing compound biosynthetic process		5-formyltetrahydrofolate cyclo-ligase activity|ATP binding|RNA binding			endometrium(1)|large_intestine(3)|lung(6)|skin(1)	11						TCAACAAGCTCTTCAGGGATG	0.587													A	86575410	C	A	86575410	4	1	364	1	0	0	0	0	0	1	0	0	10009	922	32	4	585	4	MTHFSD	16	86575410	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	621602	86575410	3779343	11885	35387											
FOXC2	2303	broad.mit.edu	37	chr16	86600952	86600952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggaagcagcatgcaggcgcGctactccgtgtccgacccca	8	5	12	16	5	0	0	0	0	0	0	2	2	2	1	4	2	4	4	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86600952G>A	ENST00000320354.4	+	1	96	c.11G>A	c.(10-12)cGc>cAc	p.R4H	RP11-463O9.5_ENST00000563280.1_RNA	NM_005251.2	NP_005242.1	Q99958	FOXC2_HUMAN	forkhead box C2 (MFH-1, mesenchyme forkhead 1)	4					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|embryonic viscerocranium morphogenesis|insulin receptor signaling pathway|lymphangiogenesis|metanephros development|negative regulation of transcription from RNA polymerase II promoter|neural crest cell fate commitment|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of cell adhesion mediated by integrin|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vascular wound healing|regulation of blood vessel size|regulation of organ growth|regulation of sequence-specific DNA binding transcription factor activity|somitogenesis|ureteric bud development|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	15						ATGCAGGCGCGCTACTCCGTG	0.721									Late-onset Hereditary Lymphedema				A	86600952	G	A	86600952	3	1	364	1	0	0	0	0	1	0	0	0	6044	1087	38	1	13	1	FOXC2	16	86600952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25542	86600952	3753801	11886	35388											
FOXL1	2300	broad.mit.edu	37	chr16	86612511	86612511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgcgctcatcgccatggCgatccaggacgcgcccgagc	7	5	12	17	7	1	0	1	0	0	0	4	3	2	1	3	2	1	1	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:86612511C>T	ENST00000320241.3	+	1	397	c.182C>T	c.(181-183)gCg>gTg	p.A61V		NM_005250.2	NP_005241.1	Q12952	FOXL1_HUMAN	forkhead box L1	61					brain development|camera-type eye development|cartilage development|embryo development|forelimb morphogenesis|heart development|organ morphogenesis|pattern specification process|proteoglycan biosynthetic process|regulation of sequence-specific DNA binding transcription factor activity|regulation of Wnt receptor signaling pathway|visceral mesoderm-endoderm interaction involved in midgut development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(2)|lung(2)|prostate(3)|skin(1)|urinary_tract(1)	15						ATCGCCATGGCGATCCAGGAC	0.672													T	86612511	C	T	86612511	3	4	364	1	0	0	0	0	1	0	0	0	6067	768	27	1	184	1	FOXL1	16	86612511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11559	86612511	3742242	11887	35389											
FBXO31	79791	broad.mit.edu	37	chr16	87367807	87367807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggagagctcattgaagttgCgctggttctcgaggtcgggc	6	10	17	8	3	2	2	1	1	1	1	4	4	2	2	0	4	2	4	0	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87367807C>T	ENST00000311635.7	-	8	1094	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.A25T	NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	361					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding	p.R361H(2)|p.R189H(2)		endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		ATTGAAGTTGCGCTGGTTCTC	0.682													T	87367807	C	T	87367807	3	4	364	1	0	0	0	0	1	0	0	0	5790	768	27	1	545	1	FBXO31	16	87367807	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	755296	87367807	2986946	11888	35390											
FBXO31	79791	broad.mit.edu	37	chr16	87369043	87369043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgggcggcaggtagatgCggcggtaggtcaggcagttg	6	7	21	7	3	1	1	1	0	0	1	1	1	1	1	0	8	1	6	0	8	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87369043C>T	ENST00000311635.7	-	7	875	c.863G>A	c.(862-864)cGc>cAc	p.R288H		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	288					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		CAGGTAGATGCGGCGGTAGGT	0.637													T	87369043	C	T	87369043	3	4	364	1	0	0	0	0	1	0	0	0	5790	768	27	1	768	1	FBXO31	16	87369043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1236	87369043	2985710	11889	35391											
CA5A	763	broad.mit.edu	37	chr16	87921777	87921777	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcctggaaggacgcccaGaccttccggttcatcaaggg	8	7	14	12	2	2	1	2	0	0	1	3	3	3	3	4	5	0	1	4	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87921777G>T	ENST00000309893.2	-	7	941	c.876C>A	c.(874-876)gtC>gtA	p.V292V		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	292					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		AGGACGCCCAGACCTTCCGGT	0.488													T	87921777	G	T	87921777	2	4	364	1	0	0	0	0	0	0	0	1	2545	929	33	4		4	CA5A	16	87921777	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	552734	87921777	2432976	11890	35392											
CA5A	763	broad.mit.edu	37	chr16	87969994	87969994	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcgaacgactccagagaggGgcccacatctgctcaaccaa	13	5	9	14	2	2	1	1	0	1	1	4	4	3	1	3	2	3	1	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:87969994G>A	ENST00000309893.2	-	1	128	c.63C>T	c.(61-63)gcC>gcT	p.A21A	CA5A_ENST00000568801.1_5'UTR	NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	21					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		TCCAGAGAGGGGCCCACATCT	0.522													A	87969994	G	A	87969994	2	1	364	1	0	0	0	0	0	0	0	1	2545	1219	43	2		2	CA5A	16	87969994	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48217	87969994	2384759	11891	35393											
BANP	54971	broad.mit.edu	37	chr16	88066718	88066718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgttgcccccacagagcCgatgatgagcaccccacctc	9	6	8	18	1	0	3	0	2	0	1	1	4	0	3	7	0	3	2	7	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88066718C>T	ENST00000393207.1	+	9	1264	c.1043C>T	c.(1042-1044)cCg>cTg	p.P348L	BANP_ENST00000479780.2_Missense_Mutation_p.P317L|BANP_ENST00000355022.4_Missense_Mutation_p.P317L|BANP_ENST00000286122.7_Missense_Mutation_p.P348L|BANP_ENST00000538234.1_Missense_Mutation_p.P356L|BANP_ENST00000355163.5_Missense_Mutation_p.P323L|BANP_ENST00000393208.2_Missense_Mutation_p.P317L	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein	348	DNA-binding (By similarity).|Necessary and sufficient for TP53 activation (By similarity).				cell cycle|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P317L(1)		NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		CCCACAGAGCCGATGATGAGC	0.652													T	88066718	C	T	88066718	3	4	364	1	0	0	0	0	1	0	0	0	1315	652	23	1	1115	1	BANP	16	88066718	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96724	88066718	2288035	11892	35394											
ZFPM1	161882	broad.mit.edu	37	chr16	88598606	88598606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgcaagagctgccccagCgccagctccctggagatcca	8	5	11	17	2	0	2	0	0	0	2	2	3	2	2	6	1	5	3	6	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88598606C>T	ENST00000319555.3	+	7	1231	c.909C>T	c.(907-909)agC>agT	p.S303S		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	303					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCTGCCCCAGCGCCAGCTCCC	0.716													T	88598606	C	T	88598606	2	4	364	1	0	0	0	0	0	0	0	1	17758	767	27	1		1	ZFPM1	16	88598606	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	531888	88598606	1756147	11893	35395											
IL17C	27189	broad.mit.edu	37	chr16	88705694	88705694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagacacccaccagcgCtccatctcaccctggagata	11	5	9	16	1	1	2	1	0	1	2	3	4	2	2	4	2	1	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88705694C>T	ENST00000244241.4	+	2	361	c.312C>T	c.(310-312)cgC>cgT	p.R104R		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	104					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CCCACCAGCGCTCCATCTCAC	0.697													T	88705694	C	T	88705694	2	4	364	1	0	0	0	0	0	0	0	1	7694	784	28	2		2	IL17C	16	88705694	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107088	88705694	1649059	11894	35396											
MVD	4597	broad.mit.edu	37	chr16	88721165	88721165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaactcagccacagtgtcGtccagggtgaagatcacggc	12	6	11	12	2	2	2	2	1	0	1	4	2	3	2	2	2	2	0	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88721165G>A	ENST00000301012.3	-	8	977	c.948C>T	c.(946-948)gaC>gaT	p.D316D		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	316					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CCACAGTGTCGTCCAGGGTGA	0.612													A	88721165	G	A	88721165	2	1	364	1	0	0	0	0	0	0	0	1	10070	1136	40	1		1	MVD	16	88721165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15471	88721165	1633588	11895	35397											
MVD	4597	broad.mit.edu	37	chr16	88723931	88723931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgtgcaccttgcagctgaGgctggagggcagcgggtccc	6	6	16	13	2	0	1	0	1	0	0	1	2	1	2	2	4	4	5	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88723931G>T	ENST00000301012.3	-	4	345	c.316C>A	c.(316-318)Ctc>Atc	p.L106I	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	106					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TTGCAGCTGAGGCTGGAGGGC	0.677													T	88723931	G	T	88723931	3	4	364	1	0	0	0	0	1	0	0	0	10070	1000	35	4	914	4	MVD	16	88723931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2766	88723931	1630822	11896	35398											
MVD	4597	broad.mit.edu	37	chr16	88725119	88725119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaccagctcttcatcgCgcttgccccctgtaatgaac	9	9	8	15	2	2	2	1	1	1	1	3	2	2	2	3	0	4	4	3	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88725119C>T	ENST00000301012.3	-	2	109	c.80G>A	c.(79-81)cGc>cAc	p.R27H	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	27					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CTCTTCATCGCGCTTGCCCCC	0.637													T	88725119	C	T	88725119	3	4	364	1	0	0	0	0	1	0	0	0	10070	768	27	1	1158	1	MVD	16	88725119	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1188	88725119	1629634	11897	35399											
CTU2	348180	broad.mit.edu	37	chr16	88776649	88776649	+	Frame_Shift_Del	DEL	G	G	-																															aggtgctcttggcgtggtctGgggggccttcgtccagctcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88776649delG	ENST00000567949.1	+	4	250	c.241delG	c.(241-243)gggfs	p.G82fs	CTU2_ENST00000312060.5_Frame_Shift_Del_p.G82fs|CTU2_ENST00000378384.3_5'UTR|CTU2_ENST00000453996.2_Frame_Shift_Del_p.G82fs			Q2VPK5	CTU2_HUMAN	cytosolic thiouridylase subunit 2 homolog (S. pombe)	82					tRNA thio-modification|tRNA wobble uridine modification	cytoplasm|protein complex|soluble fraction	protein binding			NS(1)|breast(1)|endometrium(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11						GGCGTGGTCTGGGGGGCCTTC	0.637													-	88776649	G	-	88776649	7	5	364	1	0	1	0	1	0	0	0	0	4081	1348	47	0	255	0	CTU2	16	88776649	Frame_Shift_Del	DEL	G	TCGA-DU-6392-01A-11D-1705-08	51530	88776649	1578104	11898	35400											
GALNS	2588	broad.mit.edu	37	chr16	88901652	88901652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggaaatgagggcagcgccGttgtccgacgtgaagaagac	11	5	16	9	5	0	4	0	2	0	2	1	6	1	5	2	2	1	2	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88901652G>A	ENST00000268695.5	-	8	955	c.867C>T	c.(865-867)aaC>aaT	p.N289N	GALNS_ENST00000542788.1_Silent_p.N214N	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	289						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	GGGCAGCGCCGTTGTCCGACG	0.602													A	88901652	G	A	88901652	2	1	364	1	0	0	0	0	0	0	0	1	6260	1136	40	1		1	GALNS	16	88901652	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125003	88901652	1453101	11899	35401											
CBFA2T3	863	broad.mit.edu	37	chr16	88967912	88967912	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtgggggctacttacGtgtgtgtggcgtgaaggagg	6	9	20	6	2	0	1	0	1	0	0	0	2	0	2	1	6	2	1	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:88967912G>A	ENST00000268679.4	-	2	700	c.304C>T	c.(304-306)Cat>Tat	p.H102Y	CBFA2T3_ENST00000327483.5_Splice_Site_p.L41L|CBFA2T3_ENST00000436887.2_Splice_Site_p.L102L|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Splice_Site_p.L41L	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	102	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GGCTACTTACGTGTGTGTGGC	0.682			T	RUNX1	AML								A	88967912	G	A	88967912	5	1	364	1	0	0	0	0	0	0	1	0	2724	1159	40	1	1701	1	CBFA2T3	16	88967912	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66260	88967912	1386841	11900	35402											
ANKRD11	29123	broad.mit.edu	37	chr16	89347194	89347194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggatgatggcggccgtcGcctgctggtcctcggaggtg	3	8	20	10	4	0	1	0	1	0	0	3	3	1	3	3	7	1	1	3	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89347194G>A	ENST00000301030.4	-	9	6216	c.5756C>T	c.(5755-5757)gCg>gTg	p.A1919V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.A1919V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1919	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GGCGGCCGTCGCCTGCTGGTC	0.677													A	89347194	G	A	89347194	3	1	364	1	0	0	0	0	1	0	0	0	639	1087	38	1	2255	1	ANKRD11	16	89347194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	379282	89347194	1007559	11901	35403											
ANKRD11	29123	broad.mit.edu	37	chr16	89349882	89349882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtatctttctggttttGtcttctccttcctttcctta	2	24	4	11	0	4	0	0	0	4	0	7	0	6	0	3	1	0	2	3	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89349882G>A	ENST00000301030.4	-	9	3528	c.3068C>T	c.(3067-3069)aCa>aTa	p.T1023I	ANKRD11_ENST00000378330.2_Missense_Mutation_p.T1023I	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1023	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTGGTTTTGTCTTCTCCTT	0.463													A	89349882	G	A	89349882	3	1	364	1	0	0	0	0	1	0	0	0	639	1377	48	2	4943	2	ANKRD11	16	89349882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2688	89349882	1004871	11902	35404											
ANKRD11	29123	broad.mit.edu	37	chr16	89350202	89350202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctctttcctcttctcagaGtttttatccaaatagtccct	7	18	4	12	0	3	1	1	0	3	1	7	1	6	1	3	0	1	2	3	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350202G>T	ENST00000301030.4	-	9	3208	c.2748C>A	c.(2746-2748)aaC>aaA	p.N916K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.N916K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	916	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTTCTCAGAGTTTTTATCCA	0.552													T	89350202	G	T	89350202	3	4	364	1	0	0	0	0	1	0	0	0	639	1020	36	4	5263	4	ANKRD11	16	89350202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320	89350202	1004551	11903	35405											
ANKRD11	29123	broad.mit.edu	37	chr16	89350925	89350925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagtggaaagatcattCtctaacagtatagccttatc	12	15	6	8	0	3	1	2	0	1	1	5	2	3	2	1	1	2	1	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89350925C>A	ENST00000301030.4	-	9	2485	c.2025G>T	c.(2023-2025)gaG>gaT	p.E675D	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E675D	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	675	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AAAGATCATTCTCTAACAGTA	0.368													A	89350925	C	A	89350925	3	1	364	1	0	0	0	0	1	0	0	0	639	912	32	4	5986	4	ANKRD11	16	89350925	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723	89350925	1003828	11904	35406											
ANKRD11	29123	broad.mit.edu	37	chr16	89354940	89354940	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggggggatgccaaccttgTagtgcccgttgttggcagcg	6	9	16	10	3	0	0	0	0	0	0	0	1	0	1	3	4	4	4	3	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89354940T>C	ENST00000301030.4	-	7	1200	c.740A>G	c.(739-741)tAc>tGc	p.Y247C	ANKRD11_ENST00000378330.2_Missense_Mutation_p.Y247C	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	247						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		GCCAACCTTGTAGTGCCCGTT	0.592													C	89354940	T	C	89354940	3	2	364	1	0	0	0	0	1	0	0	0	639	1638	57	3	7279	3	ANKRD11	16	89354940	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4015	89354940	999813	11905	35407											
SPG7	6687	broad.mit.edu	37	chr16	89579416	89579416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaataaggagaaggataagtCgaaggggaaggcgcctgaag	16	4	17	4	2	0	2	0	1	0	1	1	7	0	4	1	5	0	0	1	5	7	2	rs149474131		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89579416C>T	ENST00000268704.2	+	3	362	c.347C>T	c.(346-348)tCg>tTg	p.S116L	SPG7_ENST00000341316.2_Missense_Mutation_p.S116L	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	116					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		aaggataagtcgaaggggaag	0.393													T	89579416	C	T	89579416	3	4	364	1	0	0	0	0	1	0	0	0	15140	893	31	1	357	1	SPG7	16	89579416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	224476	89579416	775337	11906	35408											
SPG7	6687	broad.mit.edu	37	chr16	89598878	89598878	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcccctcaggcctcggCgctgcccgtgtgcggagcct	2	9	14	16	4	1	0	1	0	0	0	3	1	2	1	5	3	3	1	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89598878C>T	ENST00000268704.2	+	9	1173	c.1158C>T	c.(1156-1158)ggC>ggT	p.G386G	SPG7_ENST00000341316.2_Silent_p.G386G	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	386					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CAGGCCTCGGCGCTGCCCGTG	0.577													T	89598878	C	T	89598878	2	4	364	1	0	0	0	0	0	0	0	1	15140	755	27	1		1	SPG7	16	89598878	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19462	89598878	755875	11907	35409											
SPG7	6687	broad.mit.edu	37	chr16	89619481	89619481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggagcagctgtttgagcGgatgtgcatggccctgggag	8	8	17	8	1	0	1	0	1	0	0	0	4	0	4	1	4	4	4	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89619481G>A	ENST00000268704.2	+	14	1889	c.1874G>A	c.(1873-1875)cGg>cAg	p.R625Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	625					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CTGTTTGAGCGGATGTGCATG	0.627													A	89619481	G	A	89619481	3	1	364	1	0	0	0	0	1	0	0	0	15140	1116	39	1	2078	1	SPG7	16	89619481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20603	89619481	735272	11908	35410											
CPNE7	27132	broad.mit.edu	37	chr16	89655141	89655141	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacagctgctccctgcactAcatcaacccctaccagccga	11	6	6	18	1	1	0	1	0	0	0	2	2	2	0	5	0	8	3	5	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89655141A>G	ENST00000268720.5	+	12	1341	c.1211A>G	c.(1210-1212)tAc>tGc	p.Y404C	CPNE7_ENST00000319518.8_Missense_Mutation_p.Y329C	NM_014427.4	NP_055242.1	Q9UBL6	CPNE7_HUMAN	copine VII	404	VWFA.				lipid metabolic process		transporter activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)	17		all_hematologic(23;0.0748)		all cancers(4;3.63e-08)|OV - Ovarian serous cystadenocarcinoma(4;1.7e-06)|BRCA - Breast invasive adenocarcinoma(80;0.0147)		TCCCTGCACTACATCAACCCC	0.647													G	89655141	A	G	89655141	3	3	364	1	0	0	0	0	1	0	0	0	3848	391	14	3	1257	3	CPNE7	16	89655141	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	35660	89655141	699612	11909	35411											
CHMP1A	5119	broad.mit.edu	37	chr16	89712451	89712451	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacatcacggggcagaggCggtgcacaccggcggggcac	9	2	17	13	4	1	1	1	0	0	1	1	1	1	1	1	7	2	4	1	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89712451C>T	ENST00000253475.5	-	6	726	c.594G>A	c.(592-594)ccG>ccA	p.P198P	CHMP1A_ENST00000397901.3_3'UTR|CHMP1A_ENST00000550102.1_3'UTR|CHMP1A_ENST00000535997.2_3'UTR	NM_001083314.2	NP_001076783.1	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	0					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		GGGGCAGAGGCGGTGCACACC	0.687													T	89712451	C	T	89712451	2	4	364	1	0	0	0	0	0	0	0	1	3382	755	27	1		1	CHMP1A	16	89712451	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57310	89712451	642302	11910	35412											
SPATA2L	124044	broad.mit.edu	37	chr16	89763869	89763869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggcaggcgggcagggctGcacagtgggcagcatgcagc	8	3	19	11	2	0	0	0	0	0	0	0	1	0	0	0	5	4	7	0	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89763869G>A	ENST00000289805.5	-	3	1216	c.1148C>T	c.(1147-1149)gCa>gTa	p.A383V	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	383										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GGGCAGGGCTGCACAGTGGGC	0.697													A	89763869	G	A	89763869	3	1	364	1	0	0	0	0	1	0	0	0	15105	1319	46	2	130	2	SPATA2L	16	89763869	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51418	89763869	590884	11911	35413											
SPATA2L	124044	broad.mit.edu	37	chr16	89764095	89764095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcgcagagagaggaaggAgaaggcggaaggttcaggtt	13	4	19	5	3	1	3	1	0	0	3	1	7	1	5	0	7	0	3	0	7	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764095A>G	ENST00000289805.5	-	3	990	c.922T>C	c.(922-924)Tcc>Ccc	p.S308P	SPATA2L_ENST00000335360.7_Intron	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	308										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		GAGAGGAAGGAGAAGGCGGAA	0.692													G	89764095	A	G	89764095	3	3	364	1	0	0	0	0	1	0	0	0	15105	304	11	3	356	3	SPATA2L	16	89764095	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	226	89764095	590658	11912	35414											
SPATA2L	124044	broad.mit.edu	37	chr16	89764615	89764615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggtcaccatgagccgatgGctgtctctgcgtacgtagcc	6	9	13	13	4	2	1	1	1	1	0	3	2	2	1	3	2	4	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89764615G>A	ENST00000289805.5	-	3	470	c.402C>T	c.(400-402)agC>agT	p.S134S	SPATA2L_ENST00000335360.7_Silent_p.S134S	NM_152339.3	NP_689552.2	Q8IUW3	SPA2L_HUMAN	spermatogenesis associated 2-like	134										breast(1)|cervix(1)|endometrium(1)|lung(2)|skin(1)	6		Lung NSC(15;0.00043)|all_lung(18;0.000665)|all_hematologic(23;0.0355)		BRCA - Breast invasive adenocarcinoma(80;0.0272)		TGAGCCGATGGCTGTCTCTGC	0.647													A	89764615	G	A	89764615	2	1	364	1	0	0	0	0	0	0	0	1	15105	1194	42	2		2	SPATA2L	16	89764615	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	520	89764615	590138	11913	35415											
ZNF276	92822	broad.mit.edu	37	chr16	89795646	89795646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcttaattcctagagaCgtcttgagtgaagatgaaaa	13	13	8	7	1	3	5	0	3	3	2	5	6	4	5	1	0	0	0	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89795646C>T	ENST00000289816.5	+	6	1176	c.864C>T	c.(862-864)gaC>gaT	p.D288D	ZNF276_ENST00000568064.1_Silent_p.D271D|ZNF276_ENST00000443381.2_Silent_p.D363D|ZNF276_ENST00000446326.2_Silent_p.D149D	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	363					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TTCCTAGAGACGTCTTGAGTG	0.512													T	89795646	C	T	89795646	2	4	364	1	0	0	0	0	0	0	0	1	17912	535	19	1		1	ZNF276	16	89795646	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31031	89795646	559107	11914	35416											
ZNF276	92822	broad.mit.edu	37	chr16	89799811	89799811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggatggaagaagaagcttcGttgtgagaggtgatgcctgc	10	9	16	6	2	0	4	0	2	0	3	1	7	0	6	1	3	3	2	1	3	3	2	rs148047906		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89799811G>A	ENST00000289816.5	+	7	1358	c.1046G>A	c.(1045-1047)cGt>cAt	p.R349H	ZNF276_ENST00000568064.1_Missense_Mutation_p.R332H|ZNF276_ENST00000443381.2_Missense_Mutation_p.R424H|ZNF276_ENST00000446326.2_Missense_Mutation_p.R210H	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		AAGAAGCTTCGTTGTGAGAGG	0.562													A	89799811	G	A	89799811	3	1	364	1	0	0	0	0	1	0	0	0	17912	1145	40	1	1297	1	ZNF276	16	89799811	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4165	89799811	554942	11915	35417											
ZNF276	92822	broad.mit.edu	37	chr16	89800422	89800422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatcgaccgctacctgcagCgccacgtgaagctcatccac	9	7	9	16	4	1	2	1	2	0	0	3	3	2	2	4	0	4	3	4	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89800422C>T	ENST00000289816.5	+	9	1537	c.1225C>T	c.(1225-1227)Cgc>Tgc	p.R409C	ZNF276_ENST00000568064.1_Missense_Mutation_p.R392C|ZNF276_ENST00000443381.2_Missense_Mutation_p.R484C|ZNF276_ENST00000446326.2_Missense_Mutation_p.R270C	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTACCTGCAGCGCCACGTGAA	0.622													T	89800422	C	T	89800422	3	4	364	1	0	0	0	0	1	0	0	0	17912	768	27	1	1484	1	ZNF276	16	89800422	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	611	89800422	554331	11916	35418											
FANCA	2175	broad.mit.edu	37	chr16	89816211	89816211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcttgtcagagcctggaGccgtctgcggaaaatctcaa	9	8	11	13	3	3	1	2	0	2	1	4	3	3	3	3	2	3	1	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89816211G>A	ENST00000389301.3	-	32	3196	c.3166C>T	c.(3166-3168)Ctc>Ttc	p.L1056F	FANCA_ENST00000568369.1_Missense_Mutation_p.L1056F	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1056					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		AGAGCCTGGAGCCGTCTGCGG	0.587			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	89816211	G	A	89816211	3	1	364	1	0	0	0	0	1	0	0	0	5711	971	34	2	1249	2	FANCA	16	89816211	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15789	89816211	538542	11917	35419											
FANCA	2175	broad.mit.edu	37	chr16	89831452	89831452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtcgggcctctgagaacAatctgaacatgaggaactga	12	8	12	9	1	2	4	0	4	2	1	3	6	2	5	1	2	3	1	1	2	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89831452A>G	ENST00000389301.3	-	28	2654	c.2624T>C	c.(2623-2625)tTg>tCg	p.L875S	FANCA_ENST00000568369.1_Missense_Mutation_p.L875S	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	875					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		CTCTGAGAACAATCTGAACAT	0.537			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	89831452	A	G	89831452	3	3	364	1	0	0	0	0	1	0	0	0	5711	131	5	3	1807	3	FANCA	16	89831452	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15241	89831452	523301	11918	35420											
FANCA	2175	broad.mit.edu	37	chr16	89849305	89849305	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgacaaatcctcgtagaGtcccatgttttctatagaaa	13	13	7	8	1	1	4	0	2	1	2	4	4	3	4	2	0	0	2	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89849305G>T	ENST00000389301.3	-	17	1618	c.1588C>A	c.(1588-1590)Ctc>Atc	p.L530I	FANCA_ENST00000568369.1_Missense_Mutation_p.L530I	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	530					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding			breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		TCCTCGTAGAGTCCCATGTTT	0.502			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	89849305	G	T	89849305	3	4	364	1	0	0	0	0	1	0	0	0	5711	1029	36	4	2887	4	FANCA	16	89849305	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17853	89849305	505448	11919	35421											
SPIRE2	84501	broad.mit.edu	37	chr16	89929992	89929992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttttgcagaacaaggagCtcttcagcagtctgaagaag	13	10	11	7	0	3	3	1	1	2	2	3	4	3	4	0	1	4	4	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89929992C>T	ENST00000378247.3	+	11	1727	c.1684C>T	c.(1684-1686)Ctc>Ttc	p.L562F	SPIRE2_ENST00000393062.2_Missense_Mutation_p.L562F	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	562					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		GAACAAGGAGCTCTTCAGCAG	0.622													T	89929992	C	T	89929992	3	4	364	1	0	0	0	0	1	0	0	0	15168	797	28	2	1726	2	SPIRE2	16	89929992	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80687	89929992	424761	11920	35422											
SPIRE2	84501	broad.mit.edu	37	chr16	89936622	89936622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcaacactacgccacgacGcagtcgccagacccaatccc	11	4	6	20	4	1	1	1	0	0	1	3	2	2	1	5	0	2	1	5	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89936622G>A	ENST00000378247.3	+	15	2130	c.2087G>A	c.(2086-2088)cGc>cAc	p.R696H	SPIRE2_ENST00000393062.2_Missense_Mutation_p.R648H	NM_032451.1	NP_115827.1	Q8WWL2	SPIR2_HUMAN	spire-type actin nucleation factor 2	696					transport	cytoplasm|cytoskeleton	actin binding			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(15;5.15e-06)|all_lung(18;8.38e-06)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0286)		ACGCCACGACGCAGTCGCCAG	0.607													A	89936622	G	A	89936622	3	1	364	1	0	0	0	0	1	0	0	0	15168	1087	38	1	2145	1	SPIRE2	16	89936622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6630	89936622	418131	11921	35423											
TCF25	22980	broad.mit.edu	37	chr16	89960234	89960234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcagcacaagttcctggtgGccgtggagtctatggagccg	7	9	14	11	2	2	0	1	0	1	0	3	2	3	2	3	4	2	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89960234G>A	ENST00000263346.8	+	7	852	c.796G>A	c.(796-798)Gcc>Acc	p.A266T	TCF25_ENST00000263347.7_Missense_Mutation_p.A31T	NM_014972.2	NP_055787.1	Q9BQ70	TCF25_HUMAN	transcription factor 25 (basic helix-loop-helix)	266					heart development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|ovary(3)|skin(1)|urinary_tract(2)	18		all_cancers(9;4.71e-08)|Lung NSC(15;0.000192)|all_lung(18;0.000319)|all_neural(9;0.0122)|all_hematologic(23;0.027)		BRCA - Breast invasive adenocarcinoma(80;0.0288)		GTTCCTGGTGGCCGTGGAGTC	0.602													A	89960234	G	A	89960234	3	1	364	1	0	0	0	0	1	0	0	0	15793	1203	42	2	822	2	TCF25	16	89960234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23612	89960234	394519	11922	35424											
MC1R	4157	broad.mit.edu	37	chr16	89985956	89985956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgtgctggagacggccgTcatcctcctgctggaggccg	6	7	14	14	4	1	1	1	0	0	1	3	3	3	2	4	4	3	2	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89985956T>C	ENST00000555427.1	+	3	2593	c.290T>C	c.(289-291)gTc>gCc	p.V97A	TUBB3_ENST00000556922.1_Missense_Mutation_p.V97A|MC1R_ENST00000555147.1_Missense_Mutation_p.V97A					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GAGACGGCCGTCATCCTCCTG	0.632									Melanoma, Familial Clustering of				C	89985956	T	C	89985956	3	2	364	1	0	0	0	0	1	0	0	0	9438	1667	58	3	292	3	MC1R	16	89985956	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25722	89985956	368797	11923	35425											
MC1R	4157	broad.mit.edu	37	chr16	89986192	89986192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtggccagtgtcgtcttcAgcacgctcttcatcgcctac	5	11	11	14	3	4	0	2	0	2	0	6	0	4	0	2	2	2	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:89986192A>G	ENST00000555427.1	+	3	2829	c.526A>G	c.(526-528)Agc>Ggc	p.S176G	TUBB3_ENST00000556922.1_Missense_Mutation_p.S176G|MC1R_ENST00000555147.1_Missense_Mutation_p.S176G					melanocortin 1 receptor (alpha melanocyte stimulating hormone receptor)											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		TGTCGTCTTCAGCACGCTCTT	0.627									Melanoma, Familial Clustering of				G	89986192	A	G	89986192	3	3	364	1	0	0	0	0	1	0	0	0	9438	188	7	3	528	3	MC1R	16	89986192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	236	89986192	368561	11924	35426											
DEF8	54849	broad.mit.edu	37	chr16	90025469	90025469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgctccttgagcaccgCttttacaaggagaagagcaa	12	8	11	10	2	0	3	0	1	0	2	1	5	1	3	2	1	4	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025469C>T	ENST00000563594.1	+	6	1417	c.420C>T	c.(418-420)cgC>cgT	p.R140R	DEF8_ENST00000563795.1_Silent_p.R140R|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000268676.7_Silent_p.R201R|DEF8_ENST00000418391.2_Silent_p.R140R|DEF8_ENST00000570182.1_Silent_p.R130R|DEF8_ENST00000569453.1_Silent_p.R140R|DEF8_ENST00000567874.1_Silent_p.R80R	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	201					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		TTGAGCACCGCTTTTACAAGG	0.562													T	90025469	C	T	90025469	2	4	364	1	0	0	0	0	0	0	0	1	4421	784	28	2		2	DEF8	16	90025469	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39277	90025469	329284	11925	35427											
DEF8	54849	broad.mit.edu	37	chr16	90025579	90025579	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtgggccgagacccaGacgaggagtgaggaatgaga	13	3	17	8	2	0	4	0	2	0	3	0	9	0	6	2	4	0	0	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90025579G>T	ENST00000418391.2	+	6	657	c.530G>T	c.(529-531)aGa>aTa	p.R177I	DEF8_ENST00000563795.1_Intron|DEF8_ENST00000563848.1_Intron|DEF8_ENST00000268676.7_Intron|DEF8_ENST00000570182.1_Intron|DEF8_ENST00000569453.1_Intron|DEF8_ENST00000567874.1_Intron|DEF8_ENST00000563594.1_Intron	NM_001242821.1|NM_001242822.1|NM_017702.3	NP_001229750.1|NP_001229751.1|NP_060172.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	0					intracellular signal transduction		zinc ion binding			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		CCGAGACCCAGACGAGGAGTG	0.557													T	90025579	G	T	90025579	3	4	364	1	0	0	0	0	1	0	0	0	4421	942	33	4	731	4	DEF8	16	90025579	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110	90025579	329174	11926	35428											
CENPBD1	92806	broad.mit.edu	37	chr16	90038294	90038294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgttcccttttggcactagGgatgacagttgcatctgtgg	6	13	12	10	1	1	1	0	1	1	0	2	2	2	2	2	3	1	4	2	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr16:90038294G>A	ENST00000314994.3	-	1	648	c.37C>T	c.(37-39)Cct>Tct	p.P13S	RP11-566K11.5_ENST00000565150.1_RNA|CENPBD1_ENST00000567035.1_Intron	NM_145039.3	NP_659476.2	B2RD01	CENP1_HUMAN	CENPB DNA-binding domains containing 1	13	HTH psq-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			endometrium(1)|lung(2)	3						TTGGCACTAGGGATGACAGTT	0.502													A	90038294	G	A	90038294	3	1	364	1	0	0	0	0	1	0	0	0	3258	1232	43	2	530	2	CENPBD1	16	90038294	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12715	90038294	316459	11927	35429											
FAM57A	79850	broad.mit.edu	37	chr17	641146	641146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacatgatctatgactcgtaCgccatgtacctctgtgaatg	10	13	8	10	2	2	3	0	3	2	0	3	3	2	3	2	0	3	2	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:641146C>T	ENST00000308278.8	+	3	503	c.267C>T	c.(265-267)taC>taT	p.Y89Y	FAM57A_ENST00000301324.8_Silent_p.Y89Y|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	89	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		ATGACTCGTACGCCATGTACC	0.502													T	641146	C	T	641146	2	4	364	1	0	0	0	0	0	0	0	1	5638	547	19	1		1	FAM57A	17	641146	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08		641146	80554064	11928	35430											
GEMIN4	50628	broad.mit.edu	37	chr17	649630	649630	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgggtgcactatgaccagGcgggccacggaggccacagc	8	4	15	14	3	0	1	0	1	0	0	1	2	1	2	4	5	2	1	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:649630G>A	ENST00000576778.1	-	1	2961	c.1620C>T	c.(1618-1620)cgC>cgT	p.R540R	GEMIN4_ENST00000319004.5_Silent_p.R551R			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	551					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTATGACCAGGCGGGCCACGG	0.552													A	649630	G	A	649630	2	1	364	1	0	0	0	0	0	0	0	1	6386	1190	42	2		2	GEMIN4	17	649630	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8484	649630	80545580	11929	35431											
GLOD4	51031	broad.mit.edu	37	chr17	674702	674702	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttacttttaatacaggatCtgttgggtaataaagcagga	14	13	10	4	0	1	0	0	0	1	0	1	2	1	2	0	3	3	4	0	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:674702C>T	ENST00000301329.6	-	5	492		c.e5-1		GLOD4_ENST00000536578.1_Splice_Site|GLOD4_ENST00000301328.5_Splice_Site	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4							mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		aatacaggatctgttgggtaa	0.313													T	674702	C	T	674702	5	4	364	1	0	0	0	0	0	0	1	0	6506	927	32	2	510	2	GLOD4	17	674702	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25072	674702	80520508	11930	35432											
GLOD4	51031	broad.mit.edu	37	chr17	679034	679034	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactgaggcagactgcgAttctgcaaatagaacttata	13	10	9	9	1	1	4	0	2	1	2	1	5	1	4	1	1	3	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:679034A>G	ENST00000301329.6	-	4	472	c.387T>C	c.(385-387)aaT>aaC	p.N129N	GLOD4_ENST00000536578.1_Silent_p.N120N|GLOD4_ENST00000301328.5_Silent_p.N144N	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	144						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCAGACTGCGATTCTGCAAAT	0.488													G	679034	A	G	679034	2	3	364	1	0	0	0	0	0	0	0	1	6506	330	12	3		3	GLOD4	17	679034	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4332	679034	80516176	11931	35433											
MYO1C	4641	broad.mit.edu	37	chr17	1380798	1380798	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccccgcagccccactcaCgtcaggaagtgtggatggtg	8	6	13	14	2	2	0	2	0	0	0	2	2	2	2	4	3	2	1	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380798C>T	ENST00000359786.5	-	14	1899		c.e14+1		MYO1C_ENST00000575158.1_Splice_Site|MYO1C_ENST00000361007.2_Splice_Site|MYO1C_ENST00000438665.2_Splice_Site|MYO1C_ENST00000545534.2_Splice_Site	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC						mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCCCCACTCACGTCAGGAAGT	0.637													T	1380798	C	T	1380798	5	4	364	1	0	0	0	0	0	0	1	0	10146	550	19	1	1692	1	MYO1C	17	1380798	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	701764	1380798	79814412	11932	35434											
MYO1C	4641	broad.mit.edu	37	chr17	1380819	1380819	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaggaagtgtggatggtgCttgacagtatcctccagctt	8	12	13	8	0	1	1	1	1	0	0	3	3	3	3	2	3	2	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1380819C>T	ENST00000359786.5	-	14	1878	c.1554G>A	c.(1552-1554)aaG>aaA	p.K518K	MYO1C_ENST00000575158.1_Silent_p.K483K|MYO1C_ENST00000361007.2_Silent_p.K483K|MYO1C_ENST00000438665.2_Silent_p.K499K|MYO1C_ENST00000545534.2_Silent_p.K494K	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	518	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GTGGATGGTGCTTGACAGTAT	0.657													T	1380819	C	T	1380819	2	4	364	1	0	0	0	0	0	0	0	1	10146	796	28	2		2	MYO1C	17	1380819	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21	1380819	79814391	11933	35435											
MYO1C	4641	broad.mit.edu	37	chr17	1387545	1387545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcacccccacccggtcaCgggcggtgagcgcactctcc	5	5	11	20	4	2	1	1	1	1	0	3	1	2	1	5	3	2	2	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1387545C>T	ENST00000359786.5	-	2	452	c.128G>A	c.(127-129)cGt>cAt	p.R43H	MYO1C_ENST00000575158.1_Missense_Mutation_p.R8H|MYO1C_ENST00000361007.2_Missense_Mutation_p.R8H|MYO1C_ENST00000438665.2_Missense_Mutation_p.R24H|MYO1C_ENST00000545534.2_Missense_Mutation_p.R19H	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	43	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCGGTCACGGGCGGTGAG	0.647													T	1387545	C	T	1387545	3	4	364	1	0	0	0	0	1	0	0	0	10146	536	19	1	3187	1	MYO1C	17	1387545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6726	1387545	79807665	11934	35436											
SLC43A2	124935	broad.mit.edu	37	chr17	1489322	1489322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcagctggagcacgcCgaagatggaggtgtagaggc	11	4	17	9	2	0	2	0	0	0	2	0	5	0	4	1	4	3	5	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1489322C>T	ENST00000301335.5	-	10	1190	c.1102G>A	c.(1102-1104)Ggc>Agc	p.G368S	SLC43A2_ENST00000412517.3_Missense_Mutation_p.G231S|SLC43A2_ENST00000382147.4_Missense_Mutation_p.G372S|SLC43A2_ENST00000571650.1_Missense_Mutation_p.G372S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		TGGAGCACGCCGAAGATGGAG	0.647													T	1489322	C	T	1489322	3	4	364	1	0	0	0	0	1	0	0	0	14727	652	23	1	627	1	SLC43A2	17	1489322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101777	1489322	79705888	11935	35437											
SCARF1	8578	broad.mit.edu	37	chr17	1538779	1538779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccttccgcgaaggagaccGatggccgcttggcccgagct	7	7	13	14	5	0	1	0	0	0	1	1	5	1	1	5	3	2	2	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1538779G>A	ENST00000263071.4	-	11	1815	c.1766C>T	c.(1765-1767)tCg>tTg	p.S589L	SCARF1_ENST00000348987.3_Missense_Mutation_p.S503L|SCARF1_ENST00000571272.1_3'UTR	NM_003693.2|NM_145350.1	NP_003684.2|NP_663325.1	Q14162	SREC_HUMAN	scavenger receptor class F, member 1	589	Pro/Ser-rich.				cell adhesion|neuron remodeling|positive regulation of axon regeneration|receptor-mediated endocytosis	integral to membrane	low-density lipoprotein particle binding|scavenger receptor activity			cervix(1)|endometrium(3)|kidney(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GAAGGAGACCGATGGCCGCTT	0.682													A	1538779	G	A	1538779	3	1	364	1	0	0	0	0	1	0	0	0	13975	1059	37	1	730	1	SCARF1	17	1538779	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49457	1538779	79656431	11936	35438											
PRPF8	10594	broad.mit.edu	37	chr17	1558720	1558720	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccattcttcgtcagtcaGagtgggccagatgtggtgtg	7	12	14	8	1	3	2	2	0	1	2	5	3	4	2	2	2	0	0	2	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1558720G>T	ENST00000572621.1	-	36	6176	c.5911C>A	c.(5911-5913)Ctg>Atg	p.L1971M	PRPF8_ENST00000304992.6_Missense_Mutation_p.L1971M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1971	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TCGTCAGTCAGAGTGGGCCAG	0.507													T	1558720	G	T	1558720	3	4	364	1	0	0	0	0	1	0	0	0	12661	933	33	4	1124	4	PRPF8	17	1558720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19941	1558720	79636490	11937	35439											
PRPF8	10594	broad.mit.edu	37	chr17	1561966	1561966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttgcggatccgttcacGtaacacatacagggcagggt	9	8	11	13	3	1	0	1	0	0	0	2	1	2	1	3	3	3	3	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1561966G>A	ENST00000572621.1	-	32	5495	c.5230C>T	c.(5230-5232)Cgt>Tgt	p.R1744C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1744C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1744	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATCCGTTCACGTAACACATAC	0.498													A	1561966	G	A	1561966	3	1	364	1	0	0	0	0	1	0	0	0	12661	1145	40	1	1821	1	PRPF8	17	1561966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3246	1561966	79633244	11938	35440											
PRPF8	10594	broad.mit.edu	37	chr17	1578972	1578972	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgcaggcttaatccaGggtgggaacaggcggcgctt	7	9	16	9	2	1	0	0	0	1	0	2	1	2	1	1	5	2	3	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578972G>T	ENST00000572621.1	-	18	3079	c.2814C>A	c.(2812-2814)ccC>ccA	p.P938P	PRPF8_ENST00000304992.6_Silent_p.P938P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	938						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GCTTAATCCAGGGTGGGAACA	0.527													T	1578972	G	T	1578972	2	4	364	1	0	0	0	0	0	0	0	1	12661	987	35	4		4	PRPF8	17	1578972	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17006	1578972	79616238	11939	35441											
PRPF8	10594	broad.mit.edu	37	chr17	1578988	1578988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggtgggaacaggcggCgcttgtcggcttcataccac	7	8	14	12	3	1	0	1	0	0	0	3	1	2	1	2	5	2	2	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1578988C>T	ENST00000572621.1	-	18	3063	c.2798G>A	c.(2797-2799)cGc>cAc	p.R933H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R933H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	933						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		GAACAGGCGGCGCTTGTCGGC	0.512													T	1578988	C	T	1578988	3	4	364	1	0	0	0	0	1	0	0	0	12661	768	27	1	4309	1	PRPF8	17	1578988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16	1578988	79616222	11940	35442											
PRPF8	10594	broad.mit.edu	37	chr17	1579960	1579960	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcagccttggccttcaCgtatcgaaggatcatattct	9	12	8	12	2	4	0	3	0	1	0	5	2	4	1	3	2	1	1	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1579960C>T	ENST00000572621.1	-	15	2492	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PRPF8_ENST00000304992.6_Missense_Mutation_p.V743M			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	743						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.V743M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TTGGCCTTCACGTATCGAAGG	0.537													T	1579960	C	T	1579960	3	4	364	1	0	0	0	0	1	0	0	0	12661	536	19	1	4892	1	PRPF8	17	1579960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	972	1579960	79615250	11941	35443											
PRPF8	10594	broad.mit.edu	37	chr17	1584919	1584919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagctgattagccaggCggtagagagtcgacatcata	12	8	13	8	2	2	2	2	1	0	1	3	5	2	3	1	3	2	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1584919C>T	ENST00000572621.1	-	5	984	c.719G>A	c.(718-720)cGc>cAc	p.R240H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R240H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	240						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATTAGCCAGGCGGTAGAGAGT	0.468													T	1584919	C	T	1584919	3	4	364	1	0	0	0	0	1	0	0	0	12661	768	27	1	6440	1	PRPF8	17	1584919	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4959	1584919	79610291	11942	35444											
WDR81	124997	broad.mit.edu	37	chr17	1631740	1631740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggaggaggacagctgcGtggtgctagaggaggaggag	11	4	22	4	1	0	1	0	0	0	1	0	8	0	8	0	8	3	2	0	8	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1631740G>A	ENST00000409644.1	+	1	3487	c.3487G>A	c.(3487-3489)Gtg>Atg	p.V1163M	WDR81_ENST00000446363.1_Intron|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000309182.5_Missense_Mutation_p.V112M|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	0										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		ggaCAGCTGCGTGGTGCTAga	0.632													A	1631740	G	A	1631740	3	1	364	1	0	0	0	0	1	0	0	0	17432	1145	40	1	3551	1	WDR81	17	1631740	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46821	1631740	79563470	11943	35445											
WDR81	124997	broad.mit.edu	37	chr17	1634379	1634379	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtggccccagggagtgcCtcaggccccagccgactgaa	8	5	14	14	1	1	1	1	1	0	0	1	3	1	2	6	4	2	0	6	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1634379C>A	ENST00000409644.1	+	4	3984	c.3984C>A	c.(3982-3984)gcC>gcA	p.A1328A	WDR81_ENST00000446363.1_5'UTR|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Intron|WDR81_ENST00000309182.5_Silent_p.A277A|WDR81_ENST00000419248.1_Silent_p.A101A|WDR81_ENST00000437219.2_Silent_p.A125A	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	101										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CAGGGAGTGCCTCAGGCCCCA	0.677													A	1634379	C	A	1634379	2	1	364	1	0	0	0	0	0	0	0	1	17432	668	24	4		4	WDR81	17	1634379	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2639	1634379	79560831	11944	35446											
WDR81	124997	broad.mit.edu	37	chr17	1636912	1636912	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcagccccagcagtcgcaaCcctgccagcgtggagcccac	9	4	10	18	2	1	0	1	0	0	0	2	1	1	1	5	1	6	2	5	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1636912C>A	ENST00000409644.1	+	7	4581	c.4581C>A	c.(4579-4581)aaC>aaA	p.N1527K	WDR81_ENST00000446363.1_Missense_Mutation_p.N166K|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.N158K|WDR81_ENST00000309182.5_Missense_Mutation_p.N476K|WDR81_ENST00000419248.1_Missense_Mutation_p.N300K|WDR81_ENST00000437219.2_Missense_Mutation_p.N324K	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	300										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCAGTCGCAACCCTGCCAGCG	0.657													A	1636912	C	A	1636912	3	1	364	1	0	0	0	0	1	0	0	0	17432	506	18	4	4669	4	WDR81	17	1636912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2533	1636912	79558298	11945	35447											
WDR81	124997	broad.mit.edu	37	chr17	1640869	1640869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctcgcaggccaccacgAagctcagctctgagaacttc	10	6	8	17	2	2	1	1	1	1	1	4	3	2	1	3	1	3	3	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1640869A>G	ENST00000409644.1	+	10	5716	c.5716A>G	c.(5716-5718)Aag>Gag	p.K1906E	WDR81_ENST00000446363.1_Missense_Mutation_p.K545E|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_Missense_Mutation_p.K537E|WDR81_ENST00000309182.5_Missense_Mutation_p.K855E|WDR81_ENST00000419248.1_Missense_Mutation_p.K679E|WDR81_ENST00000437219.2_Missense_Mutation_p.K703E	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	679										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GGCCACCACGAAGCTCAGCTC	0.627													G	1640869	A	G	1640869	3	3	364	1	0	0	0	0	1	0	0	0	17432	247	9	3	5816	3	WDR81	17	1640869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3957	1640869	79554341	11946	35448											
SERPINF2	5345	broad.mit.edu	37	chr17	1657778	1657778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcggccctgacttaaaaCttgtgccccccatggaggag	8	11	10	12	1	0	1	0	1	0	0	1	3	0	3	4	3	2	0	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1657778C>A	ENST00000324015.3	+	10	1503	c.1426C>A	c.(1426-1428)Ctt>Att	p.L476I	SERPINF2_ENST00000382061.4_Missense_Mutation_p.L476I|SERPINF2_ENST00000450523.2_Missense_Mutation_p.L412I	NM_000934.3	NP_000925.2	P08697	A2AP_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2	476					acute-phase response|fibrinolysis|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	Streptokinase(DB00086)	TGACTTAAAACTTGTGCCCCC	0.612													A	1657778	C	A	1657778	3	1	364	1	0	0	0	0	1	0	0	0	14208	565	20	4	1470	4	SERPINF2	17	1657778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16909	1657778	79537432	11947	35449											
SMYD4	114826	broad.mit.edu	37	chr17	1703452	1703452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatacttcccattaatatcGcatccaggaattggggtctc	10	13	7	11	1	2	0	1	0	1	0	6	1	4	1	2	3	1	1	2	3	4	5	rs139637633	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1703452G>A	ENST00000305513.7	-	5	1403	c.1236C>T	c.(1234-1236)tgC>tgT	p.C412C		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	412							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CATTAATATCGCATCCAGGAA	0.418													A	1703452	G	A	1703452	2	1	364	1	0	0	0	0	0	0	0	1	14918	1079	38	1		1	SMYD4	17	1703452	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45674	1703452	79491758	11948	35450											
SMYD4	114826	broad.mit.edu	37	chr17	1731227	1731227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgtgacctgaacagacGtcgggagtgaagcccacttt	12	9	11	9	2	0	4	0	3	0	1	1	5	0	5	2	1	2	0	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1731227G>A	ENST00000305513.7	-	2	229	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	21							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						CTGAACAGACGTCGGGAGTGA	0.398													A	1731227	G	A	1731227	3	1	364	1	0	0	0	0	1	0	0	0	14918	1145	40	1	2392	1	SMYD4	17	1731227	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27775	1731227	79463983	11949	35451											
RPA1	6117	broad.mit.edu	37	chr17	1747248	1747248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactacggggaatagtccgcCgcgttatcgactgctcatga	9	10	11	11	5	1	1	1	1	0	0	3	3	2	2	2	2	3	2	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747248C>T	ENST00000254719.5	+	3	229	c.119C>T	c.(118-120)cCg>cTg	p.P40L		NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa	40					cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						AATAGTCCGCCGCGTTATCGA	0.458								Nucleotide excision repair (NER)					T	1747248	C	T	1747248	3	4	364	1	0	0	0	0	1	0	0	0	13627	652	23	1	129	1	RPA1	17	1747248	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16021	1747248	79447962	11950	35452											
RPA1	6117	broad.mit.edu	37	chr17	1747293	1747293	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggattgaacactctatcctGtgagtatggtgtatccatct	9	15	9	8	0	2	2	0	2	2	0	4	3	4	3	2	2	1	2	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1747293G>A	ENST00000254719.5	+	3	273		c.e3+1			NM_002945.3	NP_002936.1	P27694	RFA1_HUMAN	replication protein A1, 70kDa						cell cycle checkpoint|DNA recombinase assembly|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	actin cytoskeleton|cytoplasm|DNA replication factor A complex|PML body	metal ion binding|protein binding|single-stranded DNA binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)	10						ACTCTATCCTGTGAGTATGGT	0.448								Nucleotide excision repair (NER)					A	1747293	G	A	1747293	5	1	364	1	0	0	0	0	0	0	1	0	13627	1391	48	2	174	2	RPA1	17	1747293	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	1747293	79447917	11951	35453											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840091	1840091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgggccgggggccgtgcGggtggcccttgctcctggtg	0	7	21	13	4	0	0	0	0	0	0	1	0	1	0	5	7	2	1	5	7	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840091G>A	ENST00000331238.6	-	2	1504	c.1025C>T	c.(1024-1026)cCg>cTg	p.P342L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						GGGGCCGTGCGGGTGGCCCTT	0.692													A	1840091	G	A	1840091	3	1	364	1	0	0	0	0	1	0	0	0	13822	1116	39	1	304	1	RTN4RL1	17	1840091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92798	1840091	79355119	11952	35454											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840632	1840632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgtcgtcctggaggtactCgatgtggttgtcctgcaggt	5	13	15	8	2	0	0	0	0	0	0	4	3	2	1	2	4	2	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840632C>T	ENST00000331238.6	-	2	963	c.484G>A	c.(484-486)Gag>Aag	p.E162K		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TGGAGGTACTCGATGTGGTTG	0.632													T	1840632	C	T	1840632	3	4	364	1	0	0	0	0	1	0	0	0	13822	893	31	1	845	1	RTN4RL1	17	1840632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541	1840632	79354578	11953	35455											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840818	1840818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagctcctccaggtgcaCgaagccctcgaaggtgctgg	7	7	13	14	2	0	0	0	0	0	0	4	2	3	0	4	3	4	3	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1840818C>T	ENST00000331238.6	-	2	777	c.298G>A	c.(298-300)Gtg>Atg	p.V100M		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						TCCAGGTGCACGAAGCCCTCG	0.647													T	1840818	C	T	1840818	3	4	364	1	0	0	0	0	1	0	0	0	13822	536	19	1	1031	1	RTN4RL1	17	1840818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186	1840818	79354392	11954	35456											
DPH1	1801	broad.mit.edu	37	chr17	1945107	1945107	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcggccgtggcttgcgagGactgcagctgcagggacgag	6	7	17	11	4	0	0	0	0	0	0	1	4	0	2	1	4	4	4	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:1945107G>T	ENST00000263083.6	+	12	1333	c.1288G>T	c.(1288-1290)Gac>Tac	p.D430Y	DPH1_ENST00000570477.1_Missense_Mutation_p.D350Y	NM_001383.3	NP_001374.3	Q9BZG8	DPH1_HUMAN	diphthamide biosynthesis 1	430					peptidyl-diphthamide biosynthetic process from peptidyl-histidine|translation	cytoplasm|nucleus				endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	17						GGCTTGCGAGGACTGCAGCTG	0.697													T	1945107	G	T	1945107	3	4	364	1	0	0	0	0	1	0	0	0	4758	1174	41	4	1334	4	DPH1	17	1945107	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104289	1945107	79250103	11955	35457											
SMG6	23293	broad.mit.edu	37	chr17	2203472	2203472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccctgtctggtttattcGcaacttcctccttcgcaaca	7	13	6	15	2	1	0	0	0	1	0	5	0	3	0	3	1	3	3	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2203472G>A	ENST00000544865.1	-	2	992	c.482C>T	c.(481-483)gCg>gTg	p.A161V	SMG6_ENST00000263073.6_Missense_Mutation_p.A192V			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	192	Interaction with telomeric DNA.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						TGGTTTATTCGCAACTTCCTC	0.522													A	2203472	G	A	2203472	3	1	364	1	0	0	0	0	1	0	0	0	14891	1087	38	1	3756	1	SMG6	17	2203472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258365	2203472	78991738	11956	35458											
SRR	63826	broad.mit.edu	37	chr17	2222127	2222127	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctcccaggaattccTgcttatattgtggtgcccca	6	15	7	13	0	1	0	0	0	1	0	4	1	3	1	5	2	2	1	5	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2222127T>C	ENST00000344595.5	+	4	621	c.303T>C	c.(301-303)ccT>ccC	p.P101P	SRR_ENST00000576848.1_Intron	NM_021947.1	NP_068766.1	Q9GZT4	SRR_HUMAN	serine racemase	101					D-serine biosynthetic process|L-serine metabolic process|protein homotetramerization|pyruvate biosynthetic process|response to lipopolysaccharide	cytoplasm|neuronal cell body|soluble fraction	ATP binding|calcium ion binding|D-serine ammonia-lyase activity|glycine binding|L-serine ammonia-lyase activity|magnesium ion binding|PDZ domain binding|protein homodimerization activity|pyridoxal phosphate binding|serine racemase activity|threonine racemase activity			NS(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Colorectal(1115;3.46e-05)|Myeloproliferative disorder(207;0.0255)		COAD - Colon adenocarcinoma(228;3.24e-06)|READ - Rectum adenocarcinoma(1115;0.0649)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	CAGGAATTCCTGCTTATATTG	0.458													C	2222127	T	C	2222127	2	2	364	1	0	0	0	0	0	0	0	1	15262	1567	55	3		3	SRR	17	2222127	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18655	2222127	78973083	11957	35459											
SGSM2	9905	broad.mit.edu	37	chr17	2265508	2265508	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacacgtatgggtacgcacGgcgctcatcgagaaagttct	12	8	11	10	5	2	1	1	0	1	1	3	2	2	1	0	2	2	5	0	2	4	3	rs148544625		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2265508G>T	ENST00000268989.3	+	4	579	c.402G>T	c.(400-402)acG>acT	p.T134T	SGSM2_ENST00000574563.1_Silent_p.T134T|SGSM2_ENST00000426855.2_Silent_p.T134T	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	134	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GGGTACGCACGGCGCTCATCG	0.637													T	2265508	G	T	2265508	2	4	364	1	0	0	0	0	0	0	0	1	14316	1103	39	4		4	SGSM2	17	2265508	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43381	2265508	78929702	11958	35460											
SGSM2	9905	broad.mit.edu	37	chr17	2274584	2274584	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgatcgagatgcagggCtttgggcccagcctgccagc	8	7	14	12	1	0	2	0	1	0	1	1	4	0	2	3	2	4	2	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2274584C>A	ENST00000268989.3	+	13	1629	c.1452C>A	c.(1450-1452)ggC>ggA	p.G484G	SGSM2_ENST00000574563.1_Silent_p.G439G|SGSM2_ENST00000426855.2_Silent_p.G439G	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	439						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		AGATGCAGGGCTTTGGGCCCA	0.662													A	2274584	C	A	2274584	2	1	364	1	0	0	0	0	0	0	0	1	14316	784	28	4		4	SGSM2	17	2274584	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9076	2274584	78920626	11959	35461											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579818	2579818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactaaaaaaagtggtaaacCtgggccattcttgctgtctg	12	11	10	8	0	2	0	0	0	2	0	2	1	2	0	2	2	2	2	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579818C>A	ENST00000397195.5	+	9	1371	c.920C>A	c.(919-921)cCt>cAt	p.P307H	PAFAH1B1_ENST00000451360.2_Intron|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	307	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						AGTGGTAAACCTGGGCCATTC	0.368													A	2579818	C	A	2579818	3	1	364	1	0	0	0	0	1	0	0	0	11460	681	24	4	950	4	PAFAH1B1	17	2579818	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	305234	2579818	78615392	11960	35462											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2579889	2579889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagtactggcatgtgcCttatgaccctcgtaagtttg	8	14	10	9	1	1	1	1	1	0	0	2	1	1	1	2	1	2	4	2	1	3	4	rs138622703		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2579889C>A	ENST00000397195.5	+	9	1442	c.991C>A	c.(991-993)Ctt>Att	p.L331I	PAFAH1B1_ENST00000451360.2_Intron|PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	331	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TGGCATGTGCCTTATGACCCT	0.363													A	2579889	C	A	2579889	3	1	364	1	0	0	0	0	1	0	0	0	11460	681	24	4	1021	4	PAFAH1B1	17	2579889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	2579889	78615321	11961	35463											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2908723	2908723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctctgcccagtccccccGttttccagaaggtaggacac	8	8	8	17	1	1	1	0	0	1	1	3	2	3	2	6	2	1	2	6	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2908723G>A	ENST00000254695.8	+	15	1351	c.1261G>A	c.(1261-1263)Gtt>Att	p.V421I	RAP1GAP2_ENST00000366401.4_Missense_Mutation_p.V406I|RAP1GAP2_ENST00000540393.2_Missense_Mutation_p.V402I|RAP1GAP2_ENST00000542807.1_Missense_Mutation_p.V421I	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	421	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGTCCCCCCGTTTTCCAGAA	0.562													A	2908723	G	A	2908723	3	1	364	1	0	0	0	0	1	0	0	0	13126	1145	40	1	1319	1	RAP1GAP2	17	2908723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	328834	2908723	78286487	11962	35464											
OR1D2	4991	broad.mit.edu	37	chr17	2996130	2996130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacacgggggtgtgcaggCgggaatcagagctgatggcc	9	6	18	8	2	1	2	1	1	0	1	1	3	1	3	1	5	3	3	1	5	2	1	rs139391156		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:2996130C>T	ENST00000331459.1	-	1	160	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	54					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GGTGTGCAGGCGGGAATCAGA	0.552													T	2996130	C	T	2996130	3	4	364	1	0	0	0	0	1	0	0	0	11029	768	27	1	780	1	OR1D2	17	2996130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87407	2996130	78199080	11963	35465											
OR1E2	8388	broad.mit.edu	37	chr17	3336707	3336707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagcatggggctcatgatGgcggtgtagtgcaggaggaa	10	7	18	6	1	1	2	1	1	0	1	1	4	1	4	0	6	2	4	0	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3336707G>A	ENST00000248384.1	-	1	428	c.429C>T	c.(427-429)gcC>gcT	p.A143A		NM_003554.1	NP_003545.1	P47887	OR1E2_HUMAN	olfactory receptor, family 1, subfamily E, member 2	143					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(3)|lung(3)	9						GGCTCATGATGGCGGTGTAGT	0.567													A	3336707	G	A	3336707	2	1	364	1	0	0	0	0	0	0	0	1	11031	1335	47	2		2	OR1E2	17	3336707	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340577	3336707	77858503	11964	35466											
SPATA22	84690	broad.mit.edu	37	chr17	3352234	3352234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcagccagatatttttgatGaatgtgtttgtctgagtagc	9	16	11	5	0	1	4	0	3	1	1	1	4	1	4	1	0	3	3	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3352234G>A	ENST00000573128.1	-	6	1022	c.539C>T	c.(538-540)tCa>tTa	p.S180L	SPATA22_ENST00000397168.3_Missense_Mutation_p.S180L|SPATA22_ENST00000541913.1_Missense_Mutation_p.S164L|SPATA22_ENST00000575375.1_Missense_Mutation_p.S180L|SPATA22_ENST00000268981.5_Missense_Mutation_p.S180L|SPATA22_ENST00000355380.4_Missense_Mutation_p.S137L|SPATA22_ENST00000572969.1_Missense_Mutation_p.S180L			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	180										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						TATTTTTGATGAATGTGTTTG	0.383													A	3352234	G	A	3352234	3	1	364	1	0	0	0	0	1	0	0	0	15104	1294	45	2	568	2	SPATA22	17	3352234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15527	3352234	77842976	11965	35467											
ASPA	443	broad.mit.edu	37	chr17	3379573	3379573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctagagaatggcgctgaGattcagagaacagggctgga	12	7	16	6	1	1	3	1	1	0	3	1	7	1	4	0	4	1	3	0	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3379573G>T	ENST00000263080.2	+	1	278	c.120G>T	c.(118-120)gaG>gaT	p.E40D	SPATA22_ENST00000541913.1_Intron|ASPA_ENST00000456349.2_Missense_Mutation_p.E40D	NM_000049.2	NP_000040.1	P45381	ACY2_HUMAN	aspartoacylase	40					aspartate catabolic process	cytoplasm|nucleus	aminoacylase activity|aspartoacylase activity|hydrolase activity, acting on ester bonds|metal ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|stomach(1)|urinary_tract(1)	17					L-Aspartic Acid(DB00128)	ATGGCGCTGAGATTCAGAGAA	0.428													T	3379573	G	T	3379573	3	4	364	1	0	0	0	0	1	0	0	0	1055	933	33	4	122	4	ASPA	17	3379573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27339	3379573	77815637	11966	35468											
TRPV3	162514	broad.mit.edu	37	chr17	3427532	3427532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acatgcccatggactggaaaCcccgcgtatagtagagcatg	12	7	11	11	2	0	1	0	0	0	1	0	3	0	3	3	2	3	3	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3427532C>T	ENST00000301365.4	-	13	1834	c.1703G>A	c.(1702-1704)gGt>gAt	p.G568D	TRPV3_ENST00000572519.1_Missense_Mutation_p.G568D|TRPV3_ENST00000576742.1_Missense_Mutation_p.G568D			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	568						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGACTGGAAACCCCGCGTATA	0.587													T	3427532	C	T	3427532	3	4	364	1	0	0	0	0	1	0	0	0	16698	507	18	2	693	2	TRPV3	17	3427532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47959	3427532	77767678	11967	35469											
TRPV3	162514	broad.mit.edu	37	chr17	3436060	3436060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaggatcatgtcgtacatgCgcttcacaaagtcattctgc	10	12	9	10	2	4	0	3	0	1	0	5	1	4	1	0	1	3	3	0	1	3	4	rs151284467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3436060C>T	ENST00000301365.4	-	8	1087	c.956G>A	c.(955-957)cGc>cAc	p.R319H	TRPV3_ENST00000572519.1_Missense_Mutation_p.R319H|TRPV3_ENST00000576742.1_Missense_Mutation_p.R319H			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	319						integral to membrane	calcium channel activity	p.R319H(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GTCGTACATGCGCTTCACAAA	0.602													T	3436060	C	T	3436060	3	4	364	1	0	0	0	0	1	0	0	0	16698	768	27	1	1460	1	TRPV3	17	3436060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8528	3436060	77759150	11968	35470											
TRPV3	162514	broad.mit.edu	37	chr17	3458120	3458120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcttgcccatgagaggcaCcatctccttggggtgggctt	5	12	12	12	0	2	1	0	1	2	1	4	2	2	1	3	4	1	2	3	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3458120C>T	ENST00000301365.4	-	2	156	c.25G>A	c.(25-27)Gtg>Atg	p.V9M	TRPV3_ENST00000572519.1_Missense_Mutation_p.V9M|TRPV3_ENST00000576742.1_Missense_Mutation_p.V9M			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	9						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	ATGAGAGGCACCATCTCCTTG	0.622													T	3458120	C	T	3458120	3	4	364	1	0	0	0	0	1	0	0	0	16698	507	18	2	2415	2	TRPV3	17	3458120	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22060	3458120	77737090	11969	35471											
TRPV1	7442	broad.mit.edu	37	chr17	3477025	3477025	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaggatgtaggtgagaaTtacataggccagcagcagga	14	6	15	6	0	0	1	0	1	0	1	0	5	0	4	1	5	3	3	1	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3477025T>G	ENST00000174621.6	-	12	2288	c.1999A>C	c.(1999-2001)Att>Ctt	p.I667L	TRPV1_ENST00000310522.5_Missense_Mutation_p.I609L|TRPV1_ENST00000399759.3_Missense_Mutation_p.I669L|TRPV1_ENST00000425167.2_Missense_Mutation_p.I680L|TRPV1_ENST00000399756.4_Missense_Mutation_p.I669L|SHPK_ENST00000572705.1_Missense_Mutation_p.I669L|TRPV1_ENST00000576351.1_Missense_Mutation_p.I659L|TRPV1_ENST00000571088.1_Missense_Mutation_p.I669L			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	669					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TAGGTGAGAATTACATAGGCC	0.517													G	3477025	T	G	3477025	3	3	364	1	0	0	0	0	1	0	0	0	16696	1493	52	5		5	TRPV1	17	3477025	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18905	3477025	77718185	11970	35472											
TRPV1	7442	broad.mit.edu	37	chr17	3493176	3493176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagctcctccagcttcagCgtcgggtgcagtttggcccc	4	10	13	14	2	1	1	1	1	0	0	4	1	3	1	4	2	4	4	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3493176C>T	ENST00000174621.6	-	5	1252	c.963G>A	c.(961-963)acG>acA	p.T321T	TRPV1_ENST00000310522.5_Silent_p.T323T|TRPV1_ENST00000399759.3_Silent_p.T323T|TRPV1_ENST00000425167.2_Silent_p.T323T|TRPV1_ENST00000399756.4_Silent_p.T323T|SHPK_ENST00000572705.1_Silent_p.T323T|TRPV1_ENST00000576351.1_Silent_p.T323T|TRPV1_ENST00000571088.1_Silent_p.T323T			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	323					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	CCAGCTTCAGCGTCGGGTGCA	0.607													T	3493176	C	T	3493176	2	4	364	1	0	0	0	0	0	0	0	1	16696	755	27	1		1	TRPV1	17	3493176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16151	3493176	77702034	11971	35473											
SHPK	23729	broad.mit.edu	37	chr17	3513958	3513958	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaaagggaaagccctctGcacctcctgcttcagcacgt	9	7	11	14	1	2	0	1	0	1	0	3	1	3	1	3	2	4	4	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3513958G>A	ENST00000225519.3	-	7	1435	c.1333C>T	c.(1333-1335)Cag>Tag	p.Q445*		NM_013276.2	NP_037408	Q9UHJ6	SHPK_HUMAN	sedoheptulokinase	445					carbohydrate metabolic process	cytoplasm	ATP binding|sedoheptulokinase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				COAD - Colon adenocarcinoma(5;0.0828)		AAAGCCCTCTGCACCTCCTGC	0.602													A	3513958	G	A	3513958	4	1	364	1	0	0	0	0	0	1	0	0	14384	1328	46	2	107	2	SHPK	17	3513958	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20782	3513958	77681252	11972	35474											
CTNS	1497	broad.mit.edu	37	chr17	3559990	3559990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcagtttctcctcaaataCcccaacggagtgaaccccgt	11	8	8	14	2	2	1	1	1	1	0	3	3	2	2	5	1	4	2	5	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3559990C>T	ENST00000046640.3	+	9	1175	c.582C>T	c.(580-582)taC>taT	p.Y194Y	CTNS_ENST00000441220.2_Silent_p.Y86Y|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.Y47Y|CTNS_ENST00000381870.3_Silent_p.Y194Y	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	194					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCCTCAAATACCCCAACGGAG	0.597													T	3559990	C	T	3559990	2	4	364	1	0	0	0	0	0	0	0	1	4054	518	18	2		2	CTNS	17	3559990	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46032	3559990	77635220	11973	35475											
CTNS	1497	broad.mit.edu	37	chr17	3560041	3560041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtcttcttcagcctgcaCgcggttgtcctcacgctgat	5	12	10	14	4	4	1	2	1	2	0	5	2	5	1	2	1	2	3	2	1	0	3	rs150428029		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3560041C>T	ENST00000046640.3	+	9	1226	c.633C>T	c.(631-633)caC>caT	p.H211H	CTNS_ENST00000441220.2_Silent_p.H103H|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Silent_p.H64H|CTNS_ENST00000381870.3_Silent_p.H211H	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	211					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	TCAGCCTGCACGCGGTTGTCC	0.612													T	3560041	C	T	3560041	2	4	364	1	0	0	0	0	0	0	0	1	4054	535	19	1		1	CTNS	17	3560041	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51	3560041	77635169	11974	35476											
ITGAE	3682	broad.mit.edu	37	chr17	3620083	3620083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatctttcaggaagaCgacagtgatctagacaagac	13	10	8	10	1	4	4	2	1	3	3	5	6	4	5	0	1	0	0	0	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3620083C>T	ENST00000263087.4	-	30	3441	c.3343G>A	c.(3343-3345)Gtc>Atc	p.V1115I		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	1115					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TTCAGGAAGACGACAGTGATC	0.408													T	3620083	C	T	3620083	3	4	364	1	0	0	0	0	1	0	0	0	7943	536	19	1	204	1	ITGAE	17	3620083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60042	3620083	77575127	11975	35477											
ITGAE	3682	broad.mit.edu	37	chr17	3643130	3643130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggccaactgtaattctgCgacacaaaacagcttattct	12	11	8	10	1	2	0	0	0	2	0	2	1	2	0	1	2	4	2	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3643130C>T	ENST00000263087.4	-	20	2589	c.2491G>A	c.(2491-2493)Gca>Aca	p.A831T		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	831					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		TGTAATTCTGCGACACAAAAC	0.552													T	3643130	C	T	3643130	3	4	364	1	0	0	0	0	1	0	0	0	7943	768	27	1	1096	1	ITGAE	17	3643130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23047	3643130	77552080	11976	35478											
ITGAE	3682	broad.mit.edu	37	chr17	3658554	3658554	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcgccgagcagcacctgcCgctgaaggggacggggatgg	7	3	19	12	5	0	1	0	1	0	0	0	4	0	3	3	6	3	3	3	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3658554C>T	ENST00000263087.4	-	12	1339	c.1241G>A	c.(1240-1242)cGg>cAg	p.R414Q		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	414					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGCACCTGCCGCTGAAGGGG	0.731													T	3658554	C	T	3658554	5	4	364	1	0	0	0	0	0	0	1	0	7943	666	23	1	2378	1	ITGAE	17	3658554	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15424	3658554	77536656	11977	35479											
CAMKK1	84254	broad.mit.edu	37	chr17	3776741	3776741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacaacgtgacgccagtggCccatacatccaaggcctgga	11	6	11	13	2	0	1	0	1	0	0	1	2	1	2	4	3	3	1	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3776741C>T	ENST00000381771.2	-	12	1273	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T	CAMKK1_ENST00000158166.5_Missense_Mutation_p.A376T|CAMKK1_ENST00000348335.2_Missense_Mutation_p.A338T|CAMKK1_ENST00000381769.2_Missense_Mutation_p.A365T			Q8N5S9	KKCC1_HUMAN	calcium/calmodulin-dependent protein kinase kinase 1, alpha	338	Protein kinase.				synaptic transmission	cytosol|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)	11				LUAD - Lung adenocarcinoma(2;2.11e-05)|Lung(3;0.0176)		ACGCCAGTGGCCCATACATCC	0.632													T	3776741	C	T	3776741	3	4	364	1	0	0	0	0	1	0	0	0	2632	739	26	2	533	2	CAMKK1	17	3776741	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118187	3776741	77418469	11978	35480											
P2RX1	5023	broad.mit.edu	37	chr17	3808550	3808550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcagccacatcccagacCtgggggccgaggccagggag	9	4	15	13	1	1	1	1	0	0	1	2	3	2	2	5	4	1	0	5	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3808550C>A	ENST00000225538.3	-	2	523	c.249G>T	c.(247-249)caG>caT	p.Q83H		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	83					platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		CATCCCAGACCTGGGGGCCGA	0.622													A	3808550	C	A	3808550	3	1	364	1	0	0	0	0	1	0	0	0	11415	680	24	4	994	4	P2RX1	17	3808550	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31809	3808550	77386660	11979	35481											
ATP2A3	489	broad.mit.edu	37	chr17	3832730	3832730	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccgcagcagcgactggttCtccgagacgctgccagggca	8	6	13	14	4	1	1	0	0	1	1	3	3	2	1	3	2	3	5	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3832730C>T	ENST00000309890.7	-	19	2904	c.2754G>A	c.(2752-2754)gaG>gaA	p.E918E	ATP2A3_ENST00000397041.3_Silent_p.E918E|ATP2A3_ENST00000397043.3_Silent_p.E918E|ATP2A3_ENST00000359983.3_Silent_p.E918E|ATP2A3_ENST00000397035.3_Silent_p.E918E|ATP2A3_ENST00000397039.1_Silent_p.E102E|ATP2A3_ENST00000352011.3_Silent_p.E918E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	918					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GCGACTGGTTCTCCGAGACGC	0.682													T	3832730	C	T	3832730	2	4	364	1	0	0	0	0	0	0	0	1	1143	912	32	2		2	ATP2A3	17	3832730	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24180	3832730	77362480	11980	35482											
ATP2A3	489	broad.mit.edu	37	chr17	3844783	3844783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccatgtcctccttccttgGgggcgcgtcccgggtggcca	2	10	13	16	3	0	0	0	0	0	0	5	0	5	0	6	4	0	0	6	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844783G>A	ENST00000309890.7	-	13	1861	c.1711C>T	c.(1711-1713)Cca>Tca	p.P571S	ATP2A3_ENST00000397041.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397043.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000359983.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397035.3_Missense_Mutation_p.P571S|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.P571S	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	571					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		TCCTTCCTTGGGGGCGCGTCC	0.647													A	3844783	G	A	3844783	3	1	364	1	0	0	0	0	1	0	0	0	1143	1232	43	2	1535	2	ATP2A3	17	3844783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12053	3844783	77350427	11981	35483											
ATP2A3	489	broad.mit.edu	37	chr17	3844865	3844865	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggatctttgccaggatctgCtccctggaggtgggggtcag	5	10	16	10	1	3	0	1	0	2	0	4	3	4	3	2	6	2	1	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3844865C>T	ENST00000309890.7	-	13	1779	c.1629G>A	c.(1627-1629)gaG>gaA	p.E543E	ATP2A3_ENST00000397041.3_Silent_p.E543E|ATP2A3_ENST00000397043.3_Silent_p.E543E|ATP2A3_ENST00000359983.3_Silent_p.E543E|ATP2A3_ENST00000397035.3_Silent_p.E543E|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Silent_p.E543E	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	543					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		CCAGGATCTGCTCCCTGGAGG	0.682													T	3844865	C	T	3844865	2	4	364	1	0	0	0	0	0	0	0	1	1143	796	28	2		2	ATP2A3	17	3844865	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82	3844865	77350345	11982	35484											
ZZEF1	23140	broad.mit.edu	37	chr17	3945724	3945724	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaataaattgcccttaccGactttaagggaggtaacatg	16	10	8	7	1	0	0	0	0	0	0	0	2	0	1	2	2	3	1	2	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3945724G>A	ENST00000381638.2	-	39	6429	c.6305C>T	c.(6304-6306)tCg>tTg	p.S2102L		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2102							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TGCCCTTACCGACTTTAAGGG	0.423													A	3945724	G	A	3945724	5	1	364	1	0	0	0	0	0	0	1	0	18352	1072	37	1	2648	1	ZZEF1	17	3945724	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100859	3945724	77249486	11983	35485											
ZZEF1	23140	broad.mit.edu	37	chr17	3999910	3999910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacgaaaattaccataattCttatctgtgtaacttggaag	14	13	7	7	1	2	0	0	0	2	0	2	2	2	1	1	1	2	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:3999910C>T	ENST00000381638.2	-	10	1881	c.1757G>A	c.(1756-1758)aGa>aAa	p.R586K	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	586							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATAATTCTTATCTGTGT	0.343													T	3999910	C	T	3999910	3	4	364	1	0	0	0	0	1	0	0	0	18352	913	32	2	7312	2	ZZEF1	17	3999910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54186	3999910	77195300	11984	35486											
ZZEF1	23140	broad.mit.edu	37	chr17	4005701	4005701	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgaagagtcaactggaGaggtttacctgaccaaagaa	14	8	11	8	0	1	5	1	2	0	3	1	6	1	5	3	2	3	1	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4005701G>T	ENST00000381638.2	-	9	1706	c.1582C>A	c.(1582-1584)Ctc>Atc	p.L528I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	528							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GTCAACTGGAGAGGTTTACCT	0.448													T	4005701	G	T	4005701	3	4	364	1	0	0	0	0	1	0	0	0	18352	942	33	4	7491	4	ZZEF1	17	4005701	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5791	4005701	77189509	11985	35487											
ZZEF1	23140	broad.mit.edu	37	chr17	4027225	4027225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaccagagagcaggcctgtaGttgtctgatgatgtggctca	10	10	13	8	0	2	3	1	2	1	1	2	4	2	3	2	2	2	4	2	2	2	2	rs78111743	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4027225G>T	ENST00000381638.2	-	2	599	c.475C>A	c.(475-477)Cta>Ata	p.L159I	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	159							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CAGGCCTGTAGTTGTCTGATG	0.478													T	4027225	G	T	4027225	3	4	364	1	0	0	0	0	1	0	0	0	18352	1020	36	4	8626	4	ZZEF1	17	4027225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21524	4027225	77167985	11986	35488											
ANKFY1	51479	broad.mit.edu	37	chr17	4076668	4076668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagattaaaggcttcggCgtccactgtgcactctgtca	8	11	10	12	2	2	1	1	1	1	1	4	2	3	1	2	2	1	2	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4076668C>T	ENST00000341657.4	-	21	3030	c.2995G>A	c.(2995-2997)Gcc>Acc	p.A999T	ANKFY1_ENST00000570535.1_Missense_Mutation_p.A1041T|ANKFY1_ENST00000574367.1_Missense_Mutation_p.A1000T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	999						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						AAGGCTTCGGCGTCCACTGTG	0.597													T	4076668	C	T	4076668	3	4	364	1	0	0	0	0	1	0	0	0	626	768	27	1	534	1	ANKFY1	17	4076668	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49443	4076668	77118542	11987	35489											
SMTNL2	342527	broad.mit.edu	37	chr17	4498602	4498602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattgtttgagaagtgggaGcaggaaacggcggccggcaa	11	6	17	7	3	0	1	0	1	0	1	0	4	0	3	1	5	2	4	1	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4498602G>T	ENST00000389313.4	+	5	1036	c.969G>T	c.(967-969)gaG>gaT	p.E323D	SMTNL2_ENST00000338859.4_Missense_Mutation_p.E179D	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	323										breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		AGAAGTGGGAGCAGGAAACGG	0.692													T	4498602	G	T	4498602	3	4	364	1	0	0	0	0	1	0	0	0	14910	962	34	4	987	4	SMTNL2	17	4498602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	421934	4498602	76696608	11988	35490											
ALOX15	246	broad.mit.edu	37	chr17	4539075	4539075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagataggatgtatcgaCggcaggcacctcatggtggc	10	9	14	8	2	1	2	1	1	0	1	2	4	1	3	1	5	0	3	1	5	3	3	rs142441164	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4539075C>T	ENST00000570836.1	-	9	1236	c.1140G>A	c.(1138-1140)ccG>ccA	p.P380P	ALOX15_ENST00000545513.1_Silent_p.P402P|ALOX15_ENST00000574640.1_Silent_p.P341P|ALOX15_ENST00000293761.3_Silent_p.P380P			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	380	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	GATGTATCGACGGCAGGCACC	0.562													T	4539075	C	T	4539075	2	4	364	1	0	0	0	0	0	0	0	1	538	523	19	1		1	ALOX15	17	4539075	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40473	4539075	76656135	11989	35491											
ALOX15	246	broad.mit.edu	37	chr17	4540418	4540418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtcctctcacctggatgaCcatgggcaagagtttcccat	9	10	10	12	0	1	2	1	1	1	1	4	4	3	3	4	2	0	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4540418C>T	ENST00000570836.1	-	8	1039	c.943G>A	c.(943-945)Gtc>Atc	p.V315I	ALOX15_ENST00000545513.1_Missense_Mutation_p.V337I|ALOX15_ENST00000574640.1_Missense_Mutation_p.V276I|ALOX15_ENST00000293761.3_Missense_Mutation_p.V315I			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	315	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	ACCTGGATGACCATGGGCAAG	0.517													T	4540418	C	T	4540418	3	4	364	1	0	0	0	0	1	0	0	0	538	507	18	2	1077	2	ALOX15	17	4540418	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1343	4540418	76654792	11990	35492											
PELP1	27043	broad.mit.edu	37	chr17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctcctgctcccagctctCggtgtgcttcaggccttggg	3	12	12	14	1	2	0	1	0	1	0	5	0	4	0	3	3	4	4	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4579733C>T	ENST00000301396.4	-	7	997	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000572293.1_Missense_Mutation_p.E308K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K|PELP1_ENST00000574876.1_Missense_Mutation_p.E258K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607													T	4579733	C	T	4579733	3	4	364	1	0	0	0	0	1	0	0	0	11801	893	31	1	2664	1	PELP1	17	4579733	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39315	4579733	76615477	11991	35493											
ARRB2	409	broad.mit.edu	37	chr17	4624310	4624310	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggggatgaaggatgaCgactatgatgatcaactctg	13	9	13	6	1	2	5	1	5	1	0	2	8	2	7	0	3	1	0	0	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4624310C>T	ENST00000269260.2	+	15	1439	c.1206C>T	c.(1204-1206)gaC>gaT	p.D402D	ARRB2_ENST00000346341.2_Silent_p.D399D|ARRB2_ENST00000575877.1_3'UTR|ARRB2_ENST00000572457.1_Silent_p.D210D|ARRB2_ENST00000381488.6_Silent_p.D387D|ARRB2_ENST00000412477.3_Silent_p.D423D|ARRB2_ENST00000571206.1_Silent_p.D210D|ARRB2_ENST00000574954.1_Silent_p.D210D	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	402	Interaction with AP2B1.|Interaction with TRAF6.				cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						TGAAGGATGACGACTATGATG	0.542													T	4624310	C	T	4624310	2	4	364	1	0	0	0	0	0	0	0	1	986	535	19	1		1	ARRB2	17	4624310	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44577	4624310	76570900	11992	35494											
PLD2	5338	broad.mit.edu	37	chr17	4725991	4725991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcggactctccgggagtaCgtggccgtggagcccttggc	4	8	16	13	4	1	0	0	0	1	0	2	3	1	3	3	5	3	1	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4725991C>T	ENST00000263088.6	+	25	2765	c.2634C>T	c.(2632-2634)taC>taT	p.Y878Y	PLD2_ENST00000572940.1_Silent_p.Y867Y	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	878					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	TCCGGGAGTACGTGGCCGTGG	0.657													T	4725991	C	T	4725991	2	4	364	1	0	0	0	0	0	0	0	1	12123	547	19	1		1	PLD2	17	4725991	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101681	4725991	76469219	11993	35495											
MINK1	50488	broad.mit.edu	37	chr17	4799092	4799092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagggctggaccaccgTgggggacatggagggctgcg	8	4	20	9	2	0	0	0	0	0	0	0	4	0	3	2	6	2	3	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799092T>C	ENST00000355280.6	+	27	3525	c.3329T>C	c.(3328-3330)gTg>gCg	p.V1110A	MINK1_ENST00000347992.7_Missense_Mutation_p.V1081A|MINK1_ENST00000453408.3_Missense_Mutation_p.V1090A	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1110	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TGGACCACCGTGGGGGACATG	0.552													C	4799092	T	C	4799092	3	2	364	1	0	0	0	0	1	0	0	0	9662	1696	59	3	3202	3	MINK1	17	4799092	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73101	4799092	76396118	11994	35496											
MINK1	50488	broad.mit.edu	37	chr17	4799865	4799865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtggtgctgcagtgggggGagatgcctacttctgtgggt	5	12	18	6	0	1	1	0	0	1	1	1	2	1	1	1	5	4	2	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4799865G>A	ENST00000355280.6	+	30	3953	c.3757G>A	c.(3757-3759)Gag>Aag	p.E1253K	MINK1_ENST00000347992.7_Missense_Mutation_p.E1224K|MINK1_ENST00000453408.3_Missense_Mutation_p.E1233K	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1253	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GCAGTGGGGGGAGATGCCTAC	0.637													A	4799865	G	A	4799865	3	1	364	1	0	0	0	0	1	0	0	0	9662	1175	41	2	3642	2	MINK1	17	4799865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	773	4799865	76395345	11995	35497											
RNF167	26001	broad.mit.edu	37	chr17	4844395	4844395	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggaccacaatgccagcatGgactttgcagaccttccagc	10	8	9	14	1	0	1	0	0	0	1	2	3	1	3	4	2	4	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4844395G>T	ENST00000262482.6	+	3	764	c.108G>T	c.(106-108)atG>atT	p.M36I	RNF167_ENST00000572430.1_Missense_Mutation_p.M36I|RNF167_ENST00000575111.1_Missense_Mutation_p.M36I|RNF167_ENST00000570492.1_3'UTR|RNF167_ENST00000571816.1_Missense_Mutation_p.M36I|RNF167_ENST00000576229.1_Start_Codon_SNP_p.M1I	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	36					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						ATGCCAGCATGGACTTTGCAG	0.552													T	4844395	G	T	4844395	3	4	364	1	0	0	0	0	1	0	0	0	13549	1348	47	4	114	4	RNF167	17	4844395	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44530	4844395	76350815	11996	35498											
ENO3	2027	broad.mit.edu	37	chr17	4858806	4858806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatcgcaatgggaagtacGatcttgacttcaagtcgcct	10	12	9	10	3	3	1	1	1	2	0	5	3	3	2	1	1	1	2	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4858806G>A	ENST00000323997.6	+	8	904	c.772G>A	c.(772-774)Gat>Aat	p.D258N	ENO3_ENST00000518175.1_Missense_Mutation_p.D258N|ENO3_ENST00000519584.1_Missense_Mutation_p.D215N	NM_001976.4|NM_053013.3	NP_001967.3|NP_443739.3	P13929	ENOB_HUMAN	enolase 3 (beta, muscle)	258					gluconeogenesis|glycolysis	phosphopyruvate hydratase complex	magnesium ion binding|phosphopyruvate hydratase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)	15						TGGGAAGTACGATCTTGACTT	0.542													A	4858806	G	A	4858806	3	1	364	1	0	0	0	0	1	0	0	0	5164	1058	37	1	798	1	ENO3	17	4858806	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14411	4858806	76336404	11997	35499											
SPAG7	9552	broad.mit.edu	37	chr17	4863040	4863040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcccagccacccccagccGcactgtggcctcaccacagc	7	5	7	22	1	2	0	1	0	1	0	3	0	2	0	7	1	3	1	7	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4863040G>A	ENST00000575142.1	-	6	574	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	SPAG7_ENST00000206020.3_Intron|SPAG7_ENST00000573366.1_Intron			O75391	SPAG7_HUMAN	sperm associated antigen 7	0						nucleus	nucleic acid binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(3)|ovary(2)|urinary_tract(1)	10						ACCCCCAGCCGCACTGTGGCC	0.622													A	4863040	G	A	4863040	3	1	364	1	0	0	0	0	1	0	0	0	15079	1102	38	1		1	SPAG7	17	4863040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4234	4863040	76332170	11998	35500											
CAMTA2	23125	broad.mit.edu	37	chr17	4883291	4883291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcatcatcttggatgaaGaagcagtttcctcttctccc	8	14	7	12	0	5	2	2	1	3	1	7	3	6	3	2	1	1	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4883291G>T	ENST00000361571.5	-	8	1734	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	CAMTA2_ENST00000572543.1_Missense_Mutation_p.F447L|CAMTA2_ENST00000348066.3_Missense_Mutation_p.F442L|CAMTA2_ENST00000381311.5_Missense_Mutation_p.F444L|CAMTA2_ENST00000414043.3_Missense_Mutation_p.F465L|CAMTA2_ENST00000358183.4_Missense_Mutation_p.F442L	NM_001171168.1	NP_001164639.1	O94983	CMTA2_HUMAN	calmodulin binding transcription activator 2	442					cardiac muscle hypertrophy in response to stress|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	calmodulin binding|chromatin binding|histone deacetylase binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						CTTGGATGAAGAAGCAGTTTC	0.642													T	4883291	G	T	4883291	3	4	364	1	0	0	0	0	1	0	0	0	2640	933	33	4	2392	4	CAMTA2	17	4883291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20251	4883291	76311919	11999	35501											
KIF1C	10749	broad.mit.edu	37	chr17	4907888	4907888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcacgcacagccatgattGcagccctgagccctgctgac	9	7	9	16	1	1	3	1	3	0	0	1	3	1	3	3	0	5	3	3	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4907888G>A	ENST00000320785.5	+	12	1324	c.967G>A	c.(967-969)Gca>Aca	p.A323T		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	323					microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						AGCCATGATTGCAGCCCTGAG	0.577													A	4907888	G	A	4907888	3	1	364	1	0	0	0	0	1	0	0	0	8343	1319	46	2	1005	2	KIF1C	17	4907888	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24597	4907888	76287322	12000	35502											
ZFP3	124961	broad.mit.edu	37	chr17	4995471	4995471	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatactggagagagaccCtataaatgtgaagaatgtgg	15	10	11	5	0	1	4	1	1	0	3	1	6	1	4	1	2	1	0	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:4995471C>A	ENST00000318833.3	+	2	1008	c.672C>A	c.(670-672)ccC>ccA	p.P224P		NM_153018.2	NP_694563.1	Q96NJ6	ZFP3_HUMAN	ZFP3 zinc finger protein	224					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(3)|prostate(1)	20						GAGAGAGACCCTATAAATGTG	0.383													A	4995471	C	A	4995471	2	1	364	1	0	0	0	0	0	0	0	1	17744	668	24	4		4	ZFP3	17	4995471	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87583	4995471	76199739	12001	35503											
ZNF232	7775	broad.mit.edu	37	chr17	5009499	5009499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaactctctggtggacaaCaagatgtgagttataaatga	15	11	10	5	0	1	4	0	3	1	1	2	5	1	5	0	2	2	1	0	2	6	2	rs140021055		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5009499C>T	ENST00000250076.3	-	5	1609	c.955G>A	c.(955-957)Gtt>Att	p.V319I	ZNF232_ENST00000575898.1_Missense_Mutation_p.V310I|ZNF232_ENST00000416429.2_3'UTR	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	292					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TGGTGGACAACAAGATGTGAG	0.413													T	5009499	C	T	5009499	3	4	364	1	0	0	0	0	1	0	0	0	17886	478	17	2	383	2	ZNF232	17	5009499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14028	5009499	76185711	12002	35504											
ZNF232	7775	broad.mit.edu	37	chr17	5013046	5013046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccatcatcatcatcttCtcttgtccctgtgtaccctg	5	15	6	15	0	5	0	3	0	2	0	8	0	7	0	3	1	1	1	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5013046C>A	ENST00000250076.3	-	3	795	c.141G>T	c.(139-141)gaG>gaT	p.E47D	ZNF232_ENST00000575898.1_Missense_Mutation_p.E47D|ZNF232_ENST00000575538.1_5'UTR|ZNF232_ENST00000416429.2_Missense_Mutation_p.E20D	NM_014519.2	NP_055334.2	Q9UNY5	ZN232_HUMAN	zinc finger protein 232	20					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|prostate(2)	11						TCATCATCTTCTCTTGTCCCT	0.512													A	5013046	C	A	5013046	3	1	364	1	0	0	0	0	1	0	0	0	17886	912	32	4	1205	4	ZNF232	17	5013046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3547	5013046	76182164	12003	35505											
USP6	9098	broad.mit.edu	37	chr17	5048783	5048783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctcaagtcaaatgcaaGacatgtgggcatataagtgt	15	10	10	6	0	2	2	2	0	1	2	3	2	2	2	0	1	1	2	0	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5048783G>T	ENST00000574788.1	+	27	4306	c.2076G>T	c.(2074-2076)aaG>aaT	p.K692N	USP6_ENST00000304328.5_Missense_Mutation_p.K375N|USP6_ENST00000250066.6_Missense_Mutation_p.K692N|USP6_ENST00000332776.4_Missense_Mutation_p.K692N			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	692					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TCAAATGCAAGACATGTGGGC	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5048783	G	T	5048783	3	4	364	1	0	0	0	0	1	0	0	0	17188	933	33	4	2146	4	USP6	17	5048783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35737	5048783	76146427	12004	35506											
ZNF594	84622	broad.mit.edu	37	chr17	5087482	5087482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggtgatttgtctttggaGtttttcggatgcagcccttg	4	17	13	7	1	1	1	0	1	1	0	2	3	1	3	1	3	2	2	1	3	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087482G>T	ENST00000399604.4	-	1	210	c.70C>A	c.(70-72)Ctc>Atc	p.L24I	ZNF594_ENST00000575779.1_Missense_Mutation_p.L24I			Q96JF6	ZN594_HUMAN	zinc finger protein 594	24					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGTCTTTGGAGTTTTTCGGAT	0.388													T	5087482	G	T	5087482	3	4	364	1	0	0	0	0	1	0	0	0	18125	1029	36	4	2357	4	ZNF594	17	5087482	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38699	5087482	76107728	12005	35507											
ZNF594	84622	broad.mit.edu	37	chr17	5087572	5087572	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattcctgtcttcagaatCtgaaatgataagtagatcat	13	15	6	7	0	4	4	2	2	2	2	5	4	5	4	1	0	0	1	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5087572C>A	ENST00000575779.1	-	2	136		c.e2-1		ZNF594_ENST00000399604.4_5'UTR	NM_032530.1	NP_115919.1	Q96JF6	ZN594_HUMAN	zinc finger protein 594						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TCTTCAGAATCTGAAATGATA	0.358													A	5087572	C	A	5087572	5	1	364	1	0	0	0	0	0	0	1	0	18125	927	32	4		4	ZNF594	17	5087572	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90	5087572	76107638	12006	35508											
NUP88	4927	broad.mit.edu	37	chr17	5322786	5322786	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagctctccgccgaggccaAagaccacgtttctcgtcagc	10	7	9	15	4	3	1	1	0	2	1	5	2	3	1	4	1	2	2	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5322786A>G	ENST00000573584.1	-	1	694	c.185T>C	c.(184-186)tTt>tCt	p.F62S		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	62					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						GCCGAGGCCAAAGACCACGTT	0.622													G	5322786	A	G	5322786	3	3	364	1	0	0	0	0	1	0	0	0	10847	14	1	3	2108	3	NUP88	17	5322786	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	235214	5322786	75872424	12007	35509											
NLRP1	22861	broad.mit.edu	37	chr17	5424984	5424984	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttcaggaggactcccaAgggggagaagctggggtttt	9	10	15	7	0	1	1	1	0	0	1	2	4	2	3	1	6	1	2	1	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5424984A>T	ENST00000345221.3	-	13	4197	c.3643T>A	c.(3643-3645)Ttg>Atg	p.L1215M	NLRP1_ENST00000354411.3_Missense_Mutation_p.L1185M|NLRP1_ENST00000577119.1_Missense_Mutation_p.L1185M|NLRP1_ENST00000572272.1_Missense_Mutation_p.L1215M|NLRP1_ENST00000262467.5_Missense_Mutation_p.L1219M|NLRP1_ENST00000269280.4_Missense_Mutation_p.L1215M	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1215					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGGACTCCCAAGGGGGAGAAG	0.542													T	5424984	A	T	5424984	3	4	364	1	0	0	0	0	1	0	0	0	10547	69	3	5	861	5	NLRP1	17	5424984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	102198	5424984	75770226	12008	35510											
NLRP1	22861	broad.mit.edu	37	chr17	5433810	5433810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgttgtttaccttggagagCcacaaagtgagggaggtgca	10	10	14	7	0	0	2	0	1	0	1	0	4	0	3	2	3	3	3	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5433810C>T	ENST00000345221.3	-	12	4065	c.3511G>A	c.(3511-3513)Gct>Act	p.A1171T	NLRP1_ENST00000354411.3_Missense_Mutation_p.A1141T|NLRP1_ENST00000577119.1_Missense_Mutation_p.A1141T|NLRP1_ENST00000572272.1_Missense_Mutation_p.A1171T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A1175T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A1171T|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	1171					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				CCTTGGAGAGCCACAAAGTGA	0.542													T	5433810	C	T	5433810	3	4	364	1	0	0	0	0	1	0	0	0	10547	739	26	2	997	2	NLRP1	17	5433810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8826	5433810	75761400	12009	35511											
NLRP1	22861	broad.mit.edu	37	chr17	5461658	5461658	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtggtttgggtactcaCaggactaccatggtggggct	7	11	16	7	0	1	0	1	0	0	0	1	1	1	1	1	7	2	3	1	7	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461658C>T	ENST00000345221.3	-	4	2912		c.e4+1		NLRP1_ENST00000354411.3_Splice_Site|NLRP1_ENST00000577119.1_Splice_Site|NLRP1_ENST00000572272.1_Splice_Site|NLRP1_ENST00000262467.5_Splice_Site|NLRP1_ENST00000269280.4_Splice_Site|NLRP1_ENST00000571307.1_Splice_Site	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1						defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TGGGTACTCACAGGACTACCA	0.567													T	5461658	C	T	5461658	5	4	364	1	0	0	0	0	0	0	1	0	10547	492	17	2	2194	2	NLRP1	17	5461658	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27848	5461658	75733552	12010	35512											
NLRP1	22861	broad.mit.edu	37	chr17	5461726	5461726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagctgaagcttcttcaCgtggcggctgaatttaatgc	10	12	10	9	2	3	2	2	2	1	0	3	2	3	2	0	2	3	3	0	2	4	4	rs140677797		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5461726C>T	ENST00000345221.3	-	4	2844	c.2290G>A	c.(2290-2292)Gtg>Atg	p.V764M	NLRP1_ENST00000354411.3_Missense_Mutation_p.V764M|NLRP1_ENST00000577119.1_Missense_Mutation_p.V764M|NLRP1_ENST00000572272.1_Missense_Mutation_p.V764M|NLRP1_ENST00000262467.5_Missense_Mutation_p.V764M|NLRP1_ENST00000269280.4_Missense_Mutation_p.V764M|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	764					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCTTCTTCACGTGGCGGCTG	0.512													T	5461726	C	T	5461726	3	4	364	1	0	0	0	0	1	0	0	0	10547	536	19	1	2262	1	NLRP1	17	5461726	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68	5461726	75733484	12011	35513											
NLRP1	22861	broad.mit.edu	37	chr17	5463309	5463309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggggcgttcctaccaccGctgcccatgggggcctgcct	3	8	15	15	2	0	0	0	0	0	0	1	0	1	0	6	4	3	2	6	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5463309G>A	ENST00000345221.3	-	4	1261	c.707C>T	c.(706-708)gCg>gTg	p.A236V	NLRP1_ENST00000354411.3_Missense_Mutation_p.A236V|NLRP1_ENST00000577119.1_Missense_Mutation_p.A236V|NLRP1_ENST00000572272.1_Missense_Mutation_p.A236V|NLRP1_ENST00000262467.5_Missense_Mutation_p.A236V|NLRP1_ENST00000269280.4_Missense_Mutation_p.A236V|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	236					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTACCACCGCTGCCCATGG	0.552													A	5463309	G	A	5463309	3	1	364	1	0	0	0	0	1	0	0	0	10547	1087	38	1	3845	1	NLRP1	17	5463309	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1583	5463309	75731901	12012	35514											
NLRP1	22861	broad.mit.edu	37	chr17	5487182	5487182	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaagagctcctggagtgCgctttattggcgagcagaag	9	8	14	10	3	0	2	0	0	0	2	1	5	1	3	2	2	3	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:5487182C>T	ENST00000345221.3	-	1	650	c.96G>A	c.(94-96)gcG>gcA	p.A32A	NLRP1_ENST00000354411.3_Silent_p.A32A|NLRP1_ENST00000577119.1_Silent_p.A32A|NLRP1_ENST00000572272.1_Silent_p.A32A|NLRP1_ENST00000262467.5_Silent_p.A32A|NLRP1_ENST00000269280.4_Silent_p.A32A|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	32	DAPIN.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TCCTGGAGTGCGCTTTATTGG	0.617													T	5487182	C	T	5487182	2	4	364	1	0	0	0	0	0	0	0	1	10547	755	27	1		1	NLRP1	17	5487182	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23873	5487182	75708028	12013	35515											
PITPNM3	83394	broad.mit.edu	37	chr17	6364870	6364870	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatgtagcccaagtcctgCcagtgcctggtgagatggca	9	9	12	11	0	1	1	1	1	0	1	2	2	2	1	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6364870C>A	ENST00000262483.8	-	18	2400	c.2313G>T	c.(2311-2313)tgG>tgT	p.W771C	PITPNM3_ENST00000421306.3_Missense_Mutation_p.W735C|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCAAGTCCTGCCAGTGCCTGG	0.632													A	6364870	C	A	6364870	3	1	364	1	0	0	0	0	1	0	0	0	12029	740	26	4	623	4	PITPNM3	17	6364870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	877688	6364870	74830340	12014	35516											
KIAA0753	9851	broad.mit.edu	37	chr17	6515250	6515250	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttcatacttgctgtcttgCtggcgccagagtatctttct	6	17	8	10	1	4	1	1	0	3	1	4	1	4	1	1	1	3	3	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515250C>A	ENST00000361413.3	-	8	1892	c.1534G>T	c.(1534-1536)Gca>Tca	p.A512S	KIAA0753_ENST00000572370.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000542606.1_Missense_Mutation_p.A213S|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	512						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		TGCTGTCTTGCTGGCGCCAGA	0.443													A	6515250	C	A	6515250	3	1	364	1	0	0	0	0	1	0	0	0	8249	797	28	4	1417	4	KIAA0753	17	6515250	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150380	6515250	74679960	12015	35517											
KIAA0753	9851	broad.mit.edu	37	chr17	6515458	6515458	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggaagctccgtatcgggCtgatacttatctacatggaa	10	11	10	10	3	1	1	0	1	1	0	4	3	3	3	2	3	3	3	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6515458C>T	ENST00000361413.3	-	8	1684	c.1326G>A	c.(1324-1326)caG>caA	p.Q442Q	KIAA0753_ENST00000572370.1_Silent_p.Q143Q|KIAA0753_ENST00000542606.1_Silent_p.Q143Q|KIAA0753_ENST00000589033.1_Intron	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	442						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CCGTATCGGGCTGATACTTAT	0.393													T	6515458	C	T	6515458	2	4	364	1	0	0	0	0	0	0	0	1	8249	796	28	2		2	KIAA0753	17	6515458	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208	6515458	74679752	12016	35518											
KIAA0753	9851	broad.mit.edu	37	chr17	6524242	6524242	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttttggctaccgataggaAatctgctccgaatttcactg	9	13	8	11	2	2	0	1	0	1	0	3	3	3	1	3	2	2	2	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6524242A>C	ENST00000361413.3	-	7	1539	c.1181T>G	c.(1180-1182)tTt>tGt	p.F394C	KIAA0753_ENST00000572370.1_Missense_Mutation_p.F95C|KIAA0753_ENST00000542606.1_Missense_Mutation_p.F95C	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	394						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCGATAGGAAATCTGCTCCG	0.443													C	6524242	A	C	6524242	3	2	364	1	0	0	0	0	1	0	0	0	8249	14	1	5	1774	5	KIAA0753	17	6524242	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8784	6524242	74670968	12017	35519											
KIAA0753	9851	broad.mit.edu	37	chr17	6531734	6531734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcctttccaccctgtggtCgggtattttatacttagtat	6	18	7	10	1	0	0	0	0	0	0	3	0	2	0	3	2	1	2	3	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6531734C>T	ENST00000361413.3	-	3	779	c.421G>A	c.(421-423)Gac>Aac	p.D141N	KIAA0753_ENST00000572370.1_5'UTR|KIAA0753_ENST00000542606.1_5'UTR	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	141						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		ACCCTGTGGTCGGGTATTTTA	0.423													T	6531734	C	T	6531734	3	4	364	1	0	0	0	0	1	0	0	0	8249	884	31	1	2550	1	KIAA0753	17	6531734	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7492	6531734	74663476	12018	35520											
SLC13A5	284111	broad.mit.edu	37	chr17	6606399	6606399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatggccttacacaacctCttccgctcttggtcttcctg	5	14	7	15	1	4	0	1	0	3	0	6	0	6	0	4	2	2	1	4	2	2	4	rs143914994	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6606399C>A	ENST00000433363.2	-	5	839	c.606G>T	c.(604-606)aaG>aaT	p.K202N	SLC13A5_ENST00000573648.1_Missense_Mutation_p.K202N|SLC13A5_ENST00000381074.4_Missense_Mutation_p.K159N|SLC13A5_ENST00000293800.6_Missense_Mutation_p.K185N	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	202						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TACACAACCTCTTCCGCTCTT	0.637													A	6606399	C	A	6606399	3	1	364	1	0	0	0	0	1	0	0	0	14489	912	32	4	1132	4	SLC13A5	17	6606399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74665	6606399	74588811	12019	35521											
FBXO39	162517	broad.mit.edu	37	chr17	6683425	6683425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagttgagtcagctgttTggtatgttaagaagtttggt	9	16	13	3	0	1	3	1	2	0	1	1	3	1	3	0	2	1	6	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683425T>C	ENST00000321535.4	+	2	368	c.238T>C	c.(238-240)Tgg>Cgg	p.W80R		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	80										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						GTCAGCTGTTTGGTATGTTAA	0.478													C	6683425	T	C	6683425	3	2	364	1	0	0	0	0	1	0	0	0	5796	1812	63	3	240	3	FBXO39	17	6683425	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	77026	6683425	74511785	12020	35522											
FBXO39	162517	broad.mit.edu	37	chr17	6683897	6683897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcaactacaactgtatctCcgacgagctgcttgagaact	11	10	7	13	2	2	1	1	1	1	1	3	4	2	1	2	0	6	3	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6683897C>T	ENST00000321535.4	+	2	840	c.710C>T	c.(709-711)tCc>tTc	p.S237F		NM_153230.2	NP_694962.1	Q8N4B4	FBX39_HUMAN	F-box protein 39	237										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	26						AACTGTATCTCCGACGAGCTG	0.512													T	6683897	C	T	6683897	3	4	364	1	0	0	0	0	1	0	0	0	5796	855	30	2	712	2	FBXO39	17	6683897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	472	6683897	74511313	12021	35523											
BCL6B	255877	broad.mit.edu	37	chr17	6929875	6929875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagacaaaccctataagtGtcagctgtgccggtcttcgt	10	10	10	11	3	2	1	1	0	1	1	3	2	2	1	2	1	3	1	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6929875G>A	ENST00000293805.5	+	6	1081	c.989G>A	c.(988-990)tGt>tAt	p.C330Y		NM_181844.3	NP_862827	Q8N143	BCL6B_HUMAN	B-cell CLL/lymphoma 6, member B	330						nucleus	zinc ion binding			skin(1)	1						CCCTATAAGTGTCAGCTGTGC	0.572													A	6929875	G	A	6929875	3	1	364	1	0	0	0	0	1	0	0	0	1382	1377	48	2	1007	2	BCL6B	17	6929875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245978	6929875	74265335	12022	35524											
CLEC10A	10462	broad.mit.edu	37	chr17	6978460	6978460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtcattccacctgccGtctggatggaagtgagcaca	9	9	11	12	3	2	1	1	1	1	0	4	3	3	3	3	2	2	1	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:6978460G>A	ENST00000254868.4	-	9	1192	c.864C>T	c.(862-864)gaC>gaT	p.D288D	CLEC10A_ENST00000576617.1_3'UTR|CLEC10A_ENST00000416562.2_Silent_p.D261D|CLEC10A_ENST00000571664.1_Silent_p.D264D	NM_182906.2	NP_878910.1	Q8IUN9	CLC10_HUMAN	C-type lectin domain family 10, member A	288	C-type lectin.				endocytosis|innate immune response	integral to membrane|plasma membrane	sugar binding			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						TCCACCTGCCGTCTGGATGGA	0.627													A	6978460	G	A	6978460	2	1	364	1	0	0	0	0	0	0	0	1	3526	1136	40	1		1	CLEC10A	17	6978460	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48585	6978460	74216750	12023	35525											
ASGR1	432	broad.mit.edu	37	chr17	7077130	7077130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccgtggccgtaccagtcgtCcggctgctccggcctccagt	3	8	12	18	5	0	0	0	0	0	0	4	0	3	0	7	3	2	3	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7077130C>T	ENST00000574388.1	-	7	1399	c.607G>A	c.(607-609)Gac>Aac	p.D203N	ASGR1_ENST00000269299.3_Missense_Mutation_p.D242N|ASGR1_ENST00000380920.4_Missense_Mutation_p.D141N			P07306	ASGR1_HUMAN	asialoglycoprotein receptor 1	242	C-type lectin.				receptor-mediated endocytosis	integral to plasma membrane	asialoglycoprotein receptor activity|metal ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)|urinary_tract(1)	10						TACCAGTCGTCCGGCTGCTCC	0.711													T	7077130	C	T	7077130	3	4	364	1	0	0	0	0	1	0	0	0	1044	855	30	2	155	2	ASGR1	17	7077130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98670	7077130	74118080	12024	35526											
DLG4	1742	broad.mit.edu	37	chr17	7094074	7094074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgtaggggcctgagaggtCctcgatgacacgcttcacct	8	9	13	11	2	1	2	1	2	0	1	3	5	2	2	3	3	0	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7094074C>T	ENST00000399510.2	-	22	3109	c.2257G>A	c.(2257-2259)Gac>Aac	p.D753N	DLG4_ENST00000302955.6_Missense_Mutation_p.D707N|DLG4_ENST00000399506.2_Missense_Mutation_p.D710N	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	710					axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						CCTGAGAGGTCCTCGATGACA	0.622													T	7094074	C	T	7094074	3	4	364	1	0	0	0	0	1	0	0	0	4596	855	30	2	50	2	DLG4	17	7094074	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16944	7094074	74101136	12025	35527											
DLG4	1742	broad.mit.edu	37	chr17	7099810	7099810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttctggtttatactgagCgatgatcgtgaccgtctgac	8	13	10	10	3	2	4	0	4	2	0	3	5	2	4	2	1	2	1	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7099810C>T	ENST00000399510.2	-	12	2149	c.1297G>A	c.(1297-1299)Gct>Act	p.A433T	DLG4_ENST00000302955.6_Missense_Mutation_p.A387T|DLG4_ENST00000399506.2_Missense_Mutation_p.A390T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	390	SH3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTATACTGAGCGATGATCGTG	0.547													T	7099810	C	T	7099810	3	4	364	1	0	0	0	0	1	0	0	0	4596	768	27	1	1050	1	DLG4	17	7099810	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5736	7099810	74095400	12026	35528											
DLG4	1742	broad.mit.edu	37	chr17	7100196	7100196	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgttgaagcccaggccCgtggagccccggtggatcac	8	6	14	13	3	1	1	1	1	0	0	1	4	1	3	4	4	2	1	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7100196C>T	ENST00000399510.2	-	11	1944	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	DLG4_ENST00000302955.6_Silent_p.T318T|DLG4_ENST00000399506.2_Silent_p.T321T	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	321	PDZ 3.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						AGCCCAGGCCCGTGGAGCCCC	0.642													T	7100196	C	T	7100196	2	4	364	1	0	0	0	0	0	0	0	1	4596	639	23	1		1	DLG4	17	7100196	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	386	7100196	74095014	12027	35529											
CLDN7	1366	broad.mit.edu	37	chr17	7165231	7165231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccccttgtacatggcCtgggccgtgatgatgttgtc	6	11	12	12	1	0	2	0	2	0	0	1	2	0	2	4	2	2	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7165231C>A	ENST00000538261.3	-	1	1033	c.132G>T	c.(130-132)caG>caT	p.Q44H	CLDN7_ENST00000360325.7_Missense_Mutation_p.Q44H|RP1-4G17.5_ENST00000577138.1_Missense_Mutation_p.Q44H|CLDN7_ENST00000571881.2_Missense_Mutation_p.Q44H|CLDN7_ENST00000397317.4_Missense_Mutation_p.Q44H	NM_001185023.1	NP_001171952.1	O95471	CLD7_HUMAN	claudin 7	44					calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TGTACATGGCCTGGGCCGTGA	0.632													A	7165231	C	A	7165231	3	1	364	1	0	0	0	0	1	0	0	0	3521	680	24	4	519	4	CLDN7	17	7165231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65035	7165231	74029979	12028	35530											
SLC2A4	6517	broad.mit.edu	37	chr17	7187151	7187151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctatgaaatgctcatcCttggacgattcctcattggc	8	13	7	13	1	2	1	2	1	0	0	5	3	5	2	4	2	1	1	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7187151C>T	ENST00000317370.8	+	4	686	c.418C>T	c.(418-420)Ctt>Ttt	p.L140F	RP1-4G17.2_ENST00000576271.1_RNA|SLC2A4_ENST00000571308.1_Missense_Mutation_p.L140F|SLC2A4_ENST00000424875.2_Missense_Mutation_p.L130F	NM_001042.2	NP_001033.1	P14672	GTR4_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 4	140					carbohydrate metabolic process|glucose homeostasis|glucose import	external side of plasma membrane|integral to plasma membrane|perinuclear region of cytoplasm	D-glucose transmembrane transporter activity|protein binding			breast(1)|endometrium(3)|large_intestine(7)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17						AATGCTCATCCTTGGACGATT	0.592													T	7187151	C	T	7187151	3	4	364	1	0	0	0	0	1	0	0	0	14640	681	24	2	432	2	SLC2A4	17	7187151	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21920	7187151	74008059	12029	35531											
NEURL4	84461	broad.mit.edu	37	chr17	7224923	7224923	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagttcatcctctggagctGcccatcacgcctcacttcac	8	11	6	16	1	5	0	4	0	1	0	6	1	6	1	3	1	2	2	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224923G>A	ENST00000399464.2	-	18	3070	c.3055C>T	c.(3055-3057)Cag>Tag	p.Q1019*	NEURL4_ENST00000315614.7_Nonsense_Mutation_p.Q1017*|NEURL4_ENST00000570460.1_Nonsense_Mutation_p.Q995*	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCTGGAGCTGCCCATCACGC	0.652													A	7224923	G	A	7224923	4	1	364	1	0	0	0	0	0	1	0	0	10423	1328	46	2	1681	2	NEURL4	17	7224923	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37772	7224923	73970287	12030	35532											
NEURL4	84461	broad.mit.edu	37	chr17	7224947	7224947	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacgcctcacttcacagcTggataccatccaagtggtct	10	10	7	14	1	4	0	3	0	1	0	5	1	5	1	3	2	2	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7224947T>G	ENST00000399464.2	-	18	3046	c.3031A>C	c.(3031-3033)Agc>Cgc	p.S1011R	NEURL4_ENST00000315614.7_Missense_Mutation_p.S1009R|NEURL4_ENST00000570460.1_Missense_Mutation_p.S987R	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACTTCACAGCTGGATACCATC	0.652													G	7224947	T	G	7224947	3	3	364	1	0	0	0	0	1	0	0	0	10423	1580	55	5	1705	5	NEURL4	17	7224947	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24	7224947	73970263	12031	35533											
NEURL4	84461	broad.mit.edu	37	chr17	7225281	7225281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgccatcctcctctagaGtgacgttcttgccgcaagta	7	12	9	13	3	2	2	0	1	2	1	5	2	4	2	4	0	2	3	4	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7225281G>A	ENST00000399464.2	-	17	2789	c.2774C>T	c.(2773-2775)aCt>aTt	p.T925I	NEURL4_ENST00000315614.7_Missense_Mutation_p.T923I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T901I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCCTCTAGAGTGACGTTCTT	0.572													A	7225281	G	A	7225281	3	1	364	1	0	0	0	0	1	0	0	0	10423	1029	36	2	1966	2	NEURL4	17	7225281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334	7225281	73969929	12032	35534											
NEURL4	84461	broad.mit.edu	37	chr17	7227169	7227169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcgtcattaaactcgctgCgacagttgtggcggagggcg	7	9	16	9	5	1	0	1	0	0	0	2	2	1	1	0	4	2	2	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227169C>T	ENST00000399464.2	-	12	2240	c.2225G>A	c.(2224-2226)cGc>cAc	p.R742H	NEURL4_ENST00000315614.7_Missense_Mutation_p.R742H|NEURL4_ENST00000570460.1_Missense_Mutation_p.R720H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4									p.R742H(2)		central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AAACTCGCTGCGACAGTTGTG	0.612													T	7227169	C	T	7227169	3	4	364	1	0	0	0	0	1	0	0	0	10423	768	27	1	2535	1	NEURL4	17	7227169	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1888	7227169	73968041	12033	35535											
NEURL4	84461	broad.mit.edu	37	chr17	7227784	7227784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatcaccccattcccaGtcatcatccaggtccctggg	7	10	8	16	0	3	0	3	0	0	0	6	0	6	0	5	2	1	1	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7227784G>A	ENST00000399464.2	-	10	1844	c.1829C>T	c.(1828-1830)aCt>aTt	p.T610I	NEURL4_ENST00000315614.7_Missense_Mutation_p.T610I|NEURL4_ENST00000570460.1_Missense_Mutation_p.T588I	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CCCATTCCCAGTCATCATCCA	0.627											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7227784	G	A	7227784	3	1	364	1	0	0	0	0	1	0	0	0	10423	1029	36	2	2939	2	NEURL4	17	7227784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	615	7227784	73967426	12034	35536											
NEURL4	84461	broad.mit.edu	37	chr17	7231164	7231164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacactggggtccagcgCtgtcaccccaatctcaatgg	9	7	10	15	1	2	0	2	0	1	0	4	0	3	0	3	3	2	2	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7231164C>T	ENST00000399464.2	-	2	337	c.322G>A	c.(322-324)Gcg>Acg	p.A108T	NEURL4_ENST00000315614.7_Missense_Mutation_p.A108T|NEURL4_ENST00000570460.1_Missense_Mutation_p.A108T	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GGGTCCAGCGCTGTCACCCCA	0.617													T	7231164	C	T	7231164	3	4	364	1	0	0	0	0	1	0	0	0	10423	797	28	2	4478	2	NEURL4	17	7231164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3380	7231164	73964046	12035	35537											
ACAP1	9744	broad.mit.edu	37	chr17	7252368	7252368	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggccctactgtttcgagCgtctgggcatcctccatctc	4	12	11	14	2	2	0	0	0	2	0	6	1	4	0	3	3	2	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7252368C>T	ENST00000158762.3	+	18	1939	c.1733C>T	c.(1732-1734)gCg>gTg	p.A578V		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	578	Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTGTTTCGAGCGTCTGGGCAT	0.602													T	7252368	C	T	7252368	3	4	364	1	0	0	0	0	1	0	0	0	118	768	27	1	1803	1	ACAP1	17	7252368	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21204	7252368	73942842	12036	35538											
KCTD11	147040	broad.mit.edu	37	chr17	7256633	7256633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtggacaccttccgagcCaaccttttctgcaccgactc	8	9	8	16	2	1	0	0	0	1	0	3	3	2	1	5	2	3	1	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7256633C>T	ENST00000333751.3	+	1	1426	c.372C>T	c.(370-372)gcC>gcT	p.A124A	RP11-542C16.1_ENST00000572417.1_RNA	NM_001002914.2	NP_001002914.1	Q693B1	KCD11_HUMAN	potassium channel tetramerization domain containing 11	124					cell cycle|regulation of growth	voltage-gated potassium channel complex	voltage-gated potassium channel activity			kidney(1)|large_intestine(2)|lung(1)	4		Prostate(122;0.157)				CCTTCCGAGCCAACCTTTTCT	0.602													T	7256633	C	T	7256633	2	4	364	1	0	0	0	0	0	0	0	1	8156	581	21	2		2	KCTD11	17	7256633	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4265	7256633	73938577	12037	35539											
NLGN2	57555	broad.mit.edu	37	chr17	7311772	7311772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgagatcctgggccccgtCgtgcagttcttgggcgtgcc	5	9	14	13	4	1	1	0	0	1	1	3	2	2	1	4	2	3	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7311772C>T	ENST00000302926.2	+	1	271	c.198C>T	c.(196-198)gtC>gtT	p.V66V	NLGN2_ENST00000575301.1_Silent_p.V66V|NLGN2_ENST00000572893.1_Intron	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	66					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				TGGGCCCCGTCGTGCAGTTCT	0.746													T	7311772	C	T	7311772	2	4	364	1	0	0	0	0	0	0	0	1	10538	871	31	1		1	NLGN2	17	7311772	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55139	7311772	73883438	12038	35540											
NLGN2	57555	broad.mit.edu	37	chr17	7319304	7319304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcacggggatgaactGccctatgtctttggcgtgcc	5	9	15	12	4	1	1	0	1	1	0	1	2	1	2	2	4	3	1	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319304G>A	ENST00000302926.2	+	6	1585	c.1512G>A	c.(1510-1512)ctG>ctA	p.L504L	NLGN2_ENST00000575301.1_Silent_p.L504L	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	504					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GGGATGAACTGCCCTATGTCT	0.597													A	7319304	G	A	7319304	2	1	364	1	0	0	0	0	0	0	0	1	10538	1306	46	2		2	NLGN2	17	7319304	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7532	7319304	73875906	12039	35541											
NLGN2	57555	broad.mit.edu	37	chr17	7319374	7319374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacttctccaagaatgacGtcatgctcagtgccgtggtc	9	11	10	11	2	3	2	2	1	1	1	5	2	3	2	2	1	3	2	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7319374G>A	ENST00000302926.2	+	6	1655	c.1582G>A	c.(1582-1584)Gtc>Atc	p.V528I	NLGN2_ENST00000575301.1_Missense_Mutation_p.V528I	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	528					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGAATGACGTCATGCTCAG	0.637													A	7319374	G	A	7319374	3	1	364	1	0	0	0	0	1	0	0	0	10538	1145	40	1	1604	1	NLGN2	17	7319374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70	7319374	73875836	12040	35542											
SPEM1	374768	broad.mit.edu	37	chr17	7324242	7324243	+	Frame_Shift_Ins	INS	-	-	A																															agaaagcagacccagcccccINStaagaagcagagttctcctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7324242_7324243insA	ENST00000323675.3	+	3	273_274	c.248_249insA	c.(247-252)cctaagfs	p.K84fs	RP11-104H15.7_ENST00000575310.1_RNA	NM_199339.2	NP_955371.2	Q8N4L4	SPEM1_HUMAN	spermatid maturation 1	84					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	12		Prostate(122;0.173)				ACCCAGCCCCCTAAGAAGCAGA	0.594													A	7324243	-	A	7324242	7	5	364	1	0	1	1	0	0	0	0	0	15133	681	24	0	258	0	SPEM1	17	7324242	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4868	7324242	73870968	12041	35543											
C17orf74	201243	broad.mit.edu	37	chr17	7329070	7329070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataccaagaaagcccccaCgatgccgaggacatcttact	14	6	7	14	2	1	1	0	0	1	1	1	4	1	2	4	1	4	0	4	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7329070C>T	ENST00000333870.3	+	1	137	c.63C>T	c.(61-63)caC>caT	p.H21H	C17orf74_ENST00000574034.1_Silent_p.H21H|RP11-104H15.7_ENST00000575310.1_RNA	NM_175734.4	NP_783861.3	Q0P670	CQ074_HUMAN	chromosome 17 open reading frame 74	21						integral to membrane				cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	22		Prostate(122;0.157)				AAAGCCCCCACGATGCCGAGG	0.547													T	7329070	C	T	7329070	2	4	364	1	0	0	0	0	0	0	0	1	1896	535	19	1		1	C17orf74	17	7329070	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4828	7329070	73866140	12042	35544											
CHRNB1	1140	broad.mit.edu	37	chr17	7350450	7350450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaacccccgggcatctatCgcagcagctgcagcatccag	9	5	11	16	2	1	0	0	0	1	0	3	0	2	0	3	2	5	7	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7350450C>T	ENST00000306071.2	+	5	509	c.442C>T	c.(442-444)Cgc>Tgc	p.R148C	CHRNB1_ENST00000536404.2_Missense_Mutation_p.R76C|CHRNB1_ENST00000576360.1_Missense_Mutation_p.R76C	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	148					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGGCATCTATCGCAGCAGCTG	0.572													T	7350450	C	T	7350450	3	4	364	1	0	0	0	0	1	0	0	0	3420	884	31	1	460	1	CHRNB1	17	7350450	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21380	7350450	73844760	12043	35545											
POLR2A	5430	broad.mit.edu	37	chr17	7399865	7399865	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaaaacatatgcgagggtgGggaggagatggacaacaagt	16	5	15	5	1	0	1	0	0	0	1	0	5	0	3	0	5	3	0	0	5	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7399865G>T	ENST00000322644.6	+	4	869	c.470G>T	c.(469-471)gGg>gTg	p.G157V	POLR2A_ENST00000572844.1_Missense_Mutation_p.G157V	NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	157					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TGCGAGGGTGGGGAGGAGATG	0.532													T	7399865	G	T	7399865	3	4	364	1	0	0	0	0	1	0	0	0	12291	1232	43	4	484	4	POLR2A	17	7399865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49415	7399865	73795345	12044	35546											
POLR2A	5430	broad.mit.edu	37	chr17	7405278	7405278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggattccatttggcttcaaGcaccggactctgcctcactt	7	12	8	14	2	3	0	2	0	1	0	4	2	4	2	3	3	2	2	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7405278G>T	ENST00000322644.6	+	15	2808	c.2409G>T	c.(2407-2409)aaG>aaT	p.K803N		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	803					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				TTGGCTTCAAGCACCGGACTC	0.547													T	7405278	G	T	7405278	3	4	364	1	0	0	0	0	1	0	0	0	12291	962	34	4	2467	4	POLR2A	17	7405278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5413	7405278	73789932	12045	35547											
TNFSF12-TNFSF13	407977	broad.mit.edu	37	chr17	7460102	7460102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgtgttcaggtgtggaCgggacagtgagtggctggga	7	9	18	7	2	1	1	1	1	0	0	2	4	2	4	1	5	0	2	1	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7460102C>T	ENST00000293826.4	+	6	436	c.381C>T	c.(379-381)gaC>gaT	p.D127D	TNFSF12_ENST00000557233.1_Silent_p.D127D|TNFSF12_ENST00000293825.6_Silent_p.D127D|TNFSF12_ENST00000462811.1_3'UTR	NM_172089.3	NP_742086.1	Q8IZK7	Q8IZK7_HUMAN		127					immune response	extracellular space|membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|large_intestine(2)	3		Prostate(122;0.157)				CAGGTGTGGACGGGACAGTGA	0.577													T	7460102	C	T	7460102	2	4	364	1	0	0	0	0	0	0	0	1	16404	535	19	1		1	TNFSF12-TNFSF13	17	7460102	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54824	7460102	73735108	12046	35548											
SENP3	26168	broad.mit.edu	37	chr17	7468005	7468005	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggccagaaggggagcgcaGcttggcaccccctgatgcca	8	5	15	13	1	0	2	0	1	0	1	0	3	0	3	4	4	3	3	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7468005G>T	ENST00000321337.7	+	3	1099	c.779G>T	c.(778-780)aGc>aTc	p.S260I	SENP3-EIF4A1_ENST00000579777.1_RNA|SENP3_ENST00000578868.1_3'UTR|SENP3_ENST00000429205.2_Missense_Mutation_p.S260I	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	260					proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				GGGGAGCGCAGCTTGGCACCC	0.572													T	7468005	G	T	7468005	3	4	364	1	0	0	0	0	1	0	0	0	14141	971	34	4	785	4	SENP3	17	7468005	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7903	7468005	73727205	12047	35549											
EIF4A1	1973	broad.mit.edu	37	chr17	7480800	7480800	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttctacatcaacgtggaaCgagaggtggggcccagtgca	11	7	14	9	2	2	1	1	0	1	1	2	3	2	2	1	4	4	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7480800C>T	ENST00000293831.8	+	7	779	c.763C>T	c.(763-765)Cga>Tga	p.R255*	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Nonsense_Mutation_p.R255*|EIF4A1_ENST00000577269.1_Nonsense_Mutation_p.R255*	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	255	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CAACGTGGAACGAGAGGTGGG	0.552													T	7480800	C	T	7480800	4	4	364	1	0	0	0	0	0	1	0	0	5065	528	19	1	789	1	EIF4A1	17	7480800	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12795	7480800	73714410	12048	35550											
EIF4A1	1973	broad.mit.edu	37	chr17	7481533	7481533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtcatcaactatgacctTcccaccaacagggaaaacta	15	9	5	12	0	2	1	2	1	0	0	3	2	3	2	3	1	3	0	3	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7481533T>C	ENST00000293831.8	+	10	1063	c.1047T>C	c.(1045-1047)ctT>ctC	p.L349L	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Intron|EIF4A1_ENST00000577269.1_Intron	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	349	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						ACTATGACCTTCCCACCAACA	0.498													C	7481533	T	C	7481533	2	2	364	1	0	0	0	0	0	0	0	1	5065	1770	62	3		3	EIF4A1	17	7481533	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	733	7481533	73713677	12049	35551											
CD68	968	broad.mit.edu	37	chr17	7484215	7484215	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcctcactcctccagaGtggacattctcggctcagaa	8	10	7	16	1	3	2	2	0	1	2	7	3	6	3	4	2	0	1	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7484215G>A	ENST00000250092.6	+	5	973	c.762G>A	c.(760-762)caG>caA	p.Q254Q	CD68_ENST00000380498.6_Splice_Site_p.Q227Q	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	254			Q -> K (in dbSNP:rs25679).			endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						CTCCTCCAGAGTGGACATTCT	0.547													A	7484215	G	A	7484215	5	1	364	1	0	0	0	0	0	0	1	0	3060	1043	36	2	780	2	CD68	17	7484215	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2682	7484215	73710995	12050	35552											
MPDU1	9526	broad.mit.edu	37	chr17	7490863	7490863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccacaagcagaaaaaggcGcagtagagccagctactgga	15	3	11	12	1	0	2	0	0	0	2	0	3	0	3	3	2	4	4	3	2	5	2	rs148905577		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7490863G>A	ENST00000250124.6	+	7	954	c.738G>A	c.(736-738)gcG>gcA	p.A246A	MPDU1_ENST00000396501.4_3'UTR|MPDU1_ENST00000423172.2_Intron	NM_004870.3	NP_004861.2	O75352	MPU1_HUMAN	mannose-P-dolichol utilization defect 1	246					dolichol-linked oligosaccharide biosynthetic process|protein folding	endoplasmic reticulum membrane|integral to membrane|mitochondrion	protein binding			central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(1)|lung(1)	7						AGAAAAAGGCGCAGTAGAGCC	0.562													A	7490863	G	A	7490863	2	1	364	1	0	0	0	0	0	0	0	1	9797	1074	38	1		1	MPDU1	17	7490863	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6648	7490863	73704347	12051	35553											
FXR2	9513	broad.mit.edu	37	chr17	7495189	7495189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacccaactccaagggggCggagagctccccattctccg	9	6	10	16	2	1	1	0	0	1	1	4	2	3	1	5	3	3	1	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7495189C>T	ENST00000250113.7	-	17	2315	c.1981G>A	c.(1981-1983)Gcc>Acc	p.A661T	FXR2_ENST00000573057.1_5'UTR|MPDU1_ENST00000423172.2_Intron	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	661						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TCCAAGGGGGCGGAGAGCTCC	0.557													T	7495189	C	T	7495189	3	4	364	1	0	0	0	0	1	0	0	0	6168	768	27	1		1	FXR2	17	7495189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4326	7495189	73700021	12052	35554											
FXR2	9513	broad.mit.edu	37	chr17	7496092	7496092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttcatcagtgcggcggCggcgggagcggcggcgcctg	3	7	19	12	7	3	0	2	0	1	0	3	1	3	1	1	6	2	0	1	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496092C>T	ENST00000250113.7	-	14	1983	c.1649G>A	c.(1648-1650)cGc>cAc	p.R550H	MPDU1_ENST00000423172.2_3'UTR	NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	550	Poly-Arg.					cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		AGTGCGGCGGCGGCGGGAGCG	0.632													T	7496092	C	T	7496092	3	4	364	1	0	0	0	0	1	0	0	0	6168	768	27	1	288	1	FXR2	17	7496092	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	903	7496092	73699118	12053	35555											
FXR2	9513	broad.mit.edu	37	chr17	7496313	7496313	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggtacctgagctaataGatgaagaattgtatctcgaa	13	12	10	6	1	2	4	0	2	2	2	3	5	2	4	1	1	2	3	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7496313G>T	ENST00000250113.7	-	13	1851	c.1517C>A	c.(1516-1518)tCt>tAt	p.S506Y		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	506						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		TGAGCTAATAGATGAAGAATT	0.597													T	7496313	G	T	7496313	3	4	364	1	0	0	0	0	1	0	0	0	6168	942	33	4	424	4	FXR2	17	7496313	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	221	7496313	73698897	12054	35556											
FXR2	9513	broad.mit.edu	37	chr17	7504815	7504815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatatcacccagcagagatGctcgcttcacaggggcttct	9	9	10	13	1	3	1	2	0	1	1	4	2	3	1	1	2	2	5	1	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7504815G>A	ENST00000250113.7	-	7	906	c.572C>T	c.(571-573)gCa>gTa	p.A191V		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	191						cytosolic large ribosomal subunit	protein binding|RNA binding	p.A191E(1)|p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CAGCAGAGATGCTCGCTTCAC	0.493													A	7504815	G	A	7504815	3	1	364	1	0	0	0	0	1	0	0	0	6168	1319	46	2	1393	2	FXR2	17	7504815	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8502	7504815	73690395	12055	35557											
FXR2	9513	broad.mit.edu	37	chr17	7507089	7507089	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacgcttctctcagatcCtcgggcacagccatggtaac	9	9	8	15	2	3	1	2	0	1	1	6	1	4	1	2	2	2	3	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7507089C>A	ENST00000250113.7	-	5	769	c.435G>T	c.(433-435)gaG>gaT	p.E145D		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	145						cytosolic large ribosomal subunit	protein binding|RNA binding	p.?(1)		NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		CTCTCAGATCCTCGGGCACAG	0.507													A	7507089	C	A	7507089	3	1	364	1	0	0	0	0	1	0	0	0	6168	680	24	4	1538	4	FXR2	17	7507089	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2274	7507089	73688121	12056	35558											
SHBG	6462	broad.mit.edu	37	chr17	7533526	7533526	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactggctacctcgcgcctGctgctgttgctgctgttgct	2	13	11	15	2	0	0	0	0	0	0	1	0	0	0	3	1	6	8	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7533526G>A	ENST00000380450.4	+	1	67	c.36G>A	c.(34-36)ctG>ctA	p.L12L	SHBG_ENST00000575903.1_Silent_p.L12L|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Silent_p.L12L|SHBG_ENST00000572262.1_Intron|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000575314.1_Intron|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Silent_p.L12L|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	12					hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	CCTCGCGCctgctgctgttgc	0.622													A	7533526	G	A	7533526	2	1	364	1	0	0	0	0	0	0	0	1	14363	1306	46	2		2	SHBG	17	7533526	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26437	7533526	73661684	12057	35559											
SHBG	6462	broad.mit.edu	37	chr17	7536134	7536134	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggtcttgggactccctcTtcagctgaagctgagtatgt	6	13	11	11	0	3	2	1	2	2	0	4	3	4	3	2	2	2	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536134T>A	ENST00000380450.4	+	7	948	c.917T>A	c.(916-918)cTt>cAt	p.L306H	SHBG_ENST00000575903.1_Missense_Mutation_p.L288H|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.L194H|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.L248H|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	306	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	GGACTCCCTCTTCAGCTGAAG	0.597											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7536134	T	A	7536134	3	1	364	1	0	0	0	0	1	0	0	0	14363	1609	56	5	943	5	SHBG	17	7536134	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2608	7536134	73659076	12058	35560											
SHBG	6462	broad.mit.edu	37	chr17	7536191	7536191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaagggtcgaagatgaaggCccttgccctgcctcccttag	8	8	11	14	1	0	2	0	1	0	1	2	3	1	2	5	2	2	0	5	2	4	2	rs142032286		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7536191C>T	ENST00000380450.4	+	7	1005	c.974C>T	c.(973-975)gCc>gTc	p.A325V	SHBG_ENST00000575903.1_Missense_Mutation_p.A307V|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000572262.1_Missense_Mutation_p.A213V|SHBG_ENST00000576728.1_Intron|SHBG_ENST00000340624.5_Intron|SHBG_ENST00000575314.1_Missense_Mutation_p.A267V|SHBG_ENST00000574539.1_Intron|SHBG_ENST00000570547.1_Intron|SHBG_ENST00000416273.3_Intron|SHBG_ENST00000572182.1_Intron	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	325	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	AAGATGAAGGCCCTTGCCCTG	0.602											OREG0024140	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7536191	C	T	7536191	3	4	364	1	0	0	0	0	1	0	0	0	14363	739	26	2	1000	2	SHBG	17	7536191	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57	7536191	73659019	12059	35561											
ATP1B2	482	broad.mit.edu	37	chr17	7558002	7558002	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgttacctgtgctgggaaGgtgagttcgttgggccttgt	6	14	15	6	1	0	1	0	1	0	0	1	2	0	2	2	3	2	4	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7558002G>T	ENST00000250111.4	+	5	1016	c.609G>T	c.(607-609)aaG>aaT	p.K203N		NM_001678.3	NP_001669.3	P14415	AT1B2_HUMAN	ATPase, Na+/K+ transporting, beta 2 polypeptide	203					ATP biosynthetic process|blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|sodium:potassium-exchanging ATPase activity	p.0?(2)|p.?(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|pancreas(1)	10		all_cancers(10;0.000178)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;2.55e-06)|READ - Rectum adenocarcinoma(115;0.168)		GTGCTGGGAAGGTGAGTTCGT	0.502													T	7558002	G	T	7558002	5	4	364	1	0	0	0	0	0	0	1	0	1138	1014	35	4	627	4	ATP1B2	17	7558002	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21811	7558002	73637208	12060	35562											
TP53	7157	broad.mit.edu	37	chr17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcacctcaaagctgttccGtcccagtagattaccactac	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	3	4	4	0	4	4	rs55832599		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7577139G>A	ENST00000420246.2	-	8	931	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R267W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAGCTGTTCCGTCCCAGTAGA	0.522		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)			A	7577139	G	A	7577139	3	1	364	1	0	0	0	0	1	0	0	0	16482	1144	40	1	487	1	TP53	17	7577139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19137	7577139	73618071	12061	35563											
TP53	7157	broad.mit.edu	37	chr17	7578407	7578407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcatggtgggggcagcGcctcacaacctccgtcatgt	6	8	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	2	2	3	3	1	0	rs138729528		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7578407G>A	ENST00000420246.2	-	5	655	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	TP53_ENST00000359597.4_Missense_Mutation_p.R175C|TP53_ENST00000455263.2_Missense_Mutation_p.R175C|TP53_ENST00000445888.2_Missense_Mutation_p.R175C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175C|TP53_ENST00000269305.4_Missense_Mutation_p.R175C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175G(20)|p.R175C(19)|p.0?(8)|p.R175S(5)|p.R43G(3)|p.R174fs*24(3)|p.R82G(3)|p.R175_E180delRCPHHE(3)|p.R43C(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.R82C(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R175fs*6(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R175fs*72(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.S149fs*72(1)|p.R174_E180>K(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)		TGGGGGCAGCGCCTCACAACC	0.657		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)			A	7578407	G	A	7578407	3	1	364	1	0	0	0	0	1	0	0	0	16482	1087	38	1	775	1	TP53	17	7578407	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1268	7578407	73616803	12062	35564											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7579312C>A	ENST00000420246.2	-	4	507	c.375G>T	c.(373-375)acG>acT	p.T125T	TP53_ENST00000359597.4_Splice_Site_p.T125T|TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000269305.4_Splice_Site_p.T125T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			A	7579312	C	A	7579312	5	1	364	1	0	0	0	0	0	0	1	0	16482	666	23	4	927	4	TP53	17	7579312	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	905	7579312	73615898	12063	35565											
DNAH2	146754	broad.mit.edu	37	chr17	7637893	7637893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggagattgagttctggcGcaaccgatgcatggacctgt	9	9	15	8	2	1	2	0	1	1	1	1	6	1	4	2	4	2	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7637893G>A	ENST00000572933.1	+	7	2305	c.845G>A	c.(844-846)cGc>cAc	p.R282H	DNAH2_ENST00000082259.3_Missense_Mutation_p.R282H|DNAH2_ENST00000570791.1_Missense_Mutation_p.R282H|DNAH2_ENST00000389173.2_Missense_Mutation_p.R282H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	282	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GAGTTCTGGCGCAACCGATGC	0.527													A	7637893	G	A	7637893	3	1	364	1	0	0	0	0	1	0	0	0	4641	1087	38	1	867	1	DNAH2	17	7637893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58581	7637893	73557317	12064	35566											
DNAH2	146754	broad.mit.edu	37	chr17	7643819	7643819	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttggtgcgggacgtgccGcacggcgtgcttctgctgga	4	9	18	10	5	1	0	0	0	1	0	1	3	1	2	1	4	4	4	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7643819G>T	ENST00000572933.1	+	10	2918	c.1458G>T	c.(1456-1458)ccG>ccT	p.P486P	DNAH2_ENST00000082259.3_Silent_p.P568P|DNAH2_ENST00000570791.1_Silent_p.P568P|DNAH2_ENST00000389173.2_Silent_p.P486P			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	486	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GGGACGTGCCGCACGGCGTGC	0.662													T	7643819	G	T	7643819	2	4	364	1	0	0	0	0	0	0	0	1	4641	1074	38	4		4	DNAH2	17	7643819	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5926	7643819	73551391	12065	35567											
DNAH2	146754	broad.mit.edu	37	chr17	7662914	7662914	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgaagaatgatctgcaaGgaagtgtggcacaggtaaga	14	10	13	4	0	1	4	0	2	1	2	1	5	1	5	0	3	1	3	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7662914G>T	ENST00000572933.1	+	16	4083	c.2623G>T	c.(2623-2625)Gga>Tga	p.G875*	DNAH2_ENST00000389173.2_Nonsense_Mutation_p.G875*			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	875	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATCTGCAAGGAAGTGTGGC	0.458													T	7662914	G	T	7662914	4	4	364	1	0	0	0	0	0	1	0	0	4641	1001	35	4	2681	4	DNAH2	17	7662914	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19095	7662914	73532296	12066	35568											
DNAH2	146754	broad.mit.edu	37	chr17	7671223	7671223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttctgccctgtaggagctCgatgccctccagcaaatctg	7	11	9	14	1	2	0	0	0	2	0	4	2	3	1	3	1	4	3	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7671223C>T	ENST00000572933.1	+	23	5141	c.3681C>T	c.(3679-3681)ctC>ctT	p.L1227L	DNAH2_ENST00000389173.2_Silent_p.L1227L			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1227	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTAGGAGCTCGATGCCCTCC	0.602													T	7671223	C	T	7671223	2	4	364	1	0	0	0	0	0	0	0	1	4641	871	31	1		1	DNAH2	17	7671223	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8309	7671223	73523987	12067	35569											
DNAH2	146754	broad.mit.edu	37	chr17	7691284	7691284	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacctgggctggaagccctAtgttcagtcatggctggaga	8	10	14	9	0	2	2	2	1	0	1	2	4	2	3	2	4	1	3	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7691284A>G	ENST00000572933.1	+	43	8170	c.6710A>G	c.(6709-6711)tAt>tGt	p.Y2237C	DNAH2_ENST00000389173.2_Missense_Mutation_p.Y2237C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2237	AAA 2 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGAAGCCCTATGTTCAGTCA	0.567													G	7691284	A	G	7691284	3	3	364	1	0	0	0	0	1	0	0	0	4641	449	16	3	6876	3	DNAH2	17	7691284	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20061	7691284	73503926	12068	35570											
DNAH2	146754	broad.mit.edu	37	chr17	7696336	7696336	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcatcattgagagcaGggttgagaagcgaaccaagg	14	5	15	7	1	1	3	1	2	0	3	1	6	1	3	1	2	4	4	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696336G>T	ENST00000572933.1	+	48	8842	c.7382G>T	c.(7381-7383)aGg>aTg	p.R2461M	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2461M			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2461	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				ATTGAGAGCAGGGTTGAGAAG	0.498													T	7696336	G	T	7696336	3	4	364	1	0	0	0	0	1	0	0	0	4641	1000	35	4	7568	4	DNAH2	17	7696336	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5052	7696336	73498874	12069	35571											
DNAH2	146754	broad.mit.edu	37	chr17	7696355	7696355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggttgagaagcgaaccaaGggtgtctacgtgccattcgg	10	8	15	8	3	1	1	0	1	1	1	2	3	1	1	2	3	4	1	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7696355G>T	ENST00000572933.1	+	48	8861	c.7401G>T	c.(7399-7401)aaG>aaT	p.K2467N	DNAH2_ENST00000389173.2_Missense_Mutation_p.K2467N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2467	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGCGAACCAAGGGTGTCTACG	0.517													T	7696355	G	T	7696355	3	4	364	1	0	0	0	0	1	0	0	0	4641	991	35	4	7587	4	DNAH2	17	7696355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19	7696355	73498855	12070	35572											
KDM6B	23135	broad.mit.edu	37	chr17	7750057	7750057	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggctgcaactctgaacAggtgtgggtataggggggcc	9	7	18	7	0	1	2	0	1	1	1	1	3	1	2	1	6	3	3	1	6	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7750057A>G	ENST00000254846.5	+	8	1099	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	KDM6B_ENST00000448097.2_Splice_Site_p.Q237R	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	237	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						AACTCTGAACAGGTGTGGGTA	0.622													G	7750057	A	G	7750057	5	3	364	1	0	0	0	0	0	0	1	0	8196	202	7	3	728	3	KDM6B	17	7750057	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53702	7750057	73445153	12071	35573											
KDM6B	23135	broad.mit.edu	37	chr17	7751261	7751261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccccaaccccaaccaccaGcagtagcaacagcaacagtg	14	3	6	18	0	0	0	0	0	0	0	1	0	1	0	6	0	7	4	6	0	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7751261G>A	ENST00000254846.5	+	11	2044	c.1655G>A	c.(1654-1656)aGc>aAc	p.S552N	KDM6B_ENST00000448097.2_Missense_Mutation_p.S552N	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	552	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						CCAACCACcagcagtagcaac	0.637													A	7751261	G	A	7751261	3	1	364	1	0	0	0	0	1	0	0	0	8196	971	34	2	1685	2	KDM6B	17	7751261	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1204	7751261	73443949	12072	35574											
KDM6B	23135	broad.mit.edu	37	chr17	7752261	7752261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggagcgcagggcgggCgaagagccagtcccgggccc	6	1	19	15	5	0	1	0	0	0	1	1	3	1	2	4	4	2	1	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7752261C>T	ENST00000254846.5	+	11	3044	c.2655C>T	c.(2653-2655)ggC>ggT	p.G885G	KDM6B_ENST00000448097.2_Silent_p.G885G	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	885	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GCAGGGCGGGCGAAGAGCCAG	0.697													T	7752261	C	T	7752261	2	4	364	1	0	0	0	0	0	0	0	1	8196	755	27	1		1	KDM6B	17	7752261	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1000	7752261	73442949	12073	35575											
KDM6B	23135	broad.mit.edu	37	chr17	7753421	7753421	+	Missense_Mutation	SNP	T	T	C																															acgggatgccttctcacctgTcctgctgcagttctgtacag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753421T>C	ENST00000254846.5	+	13	3988	c.3599T>C	c.(3598-3600)gTc>gCc	p.V1200A	KDM6B_ENST00000448097.2_Missense_Mutation_p.V1200A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1200					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TTCTCACCTGTCCTGCTGCAG	0.612													C	7753421	T	C	7753421	3	2	364	1	0	0	0	0	1	0	0	0	8196	1667	58	3	3637	3	KDM6B	17	7753421	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1160	7753421	73441789	12074	35576	102	2									
KDM6B	23135	broad.mit.edu	37	chr17	7753424	7753424	+	Missense_Mutation	SNP	T	T	C																															ggatgccttctcacctgtccTgctgcagttctgtacagacc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7753424T>C	ENST00000254846.5	+	13	3991	c.3602T>C	c.(3601-3603)cTg>cCg	p.L1201P	KDM6B_ENST00000448097.2_Missense_Mutation_p.L1201P	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1201					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						TCACCTGTCCTGCTGCAGTTC	0.622													C	7753424	T	C	7753424	3	2	364	1	0	0	0	0	1	0	0	0	8196	1580	55	3	3640	3	KDM6B	17	7753424	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3	7753424	73441786	12075	35577	102	2									
CHD3	1107	broad.mit.edu	37	chr17	7802784	7802784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgggtgacaaggacagcCgggccatcattcgtgagaat	12	6	13	10	3	1	2	1	2	0	1	2	4	1	3	2	3	1	0	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7802784C>T	ENST00000380358.4	+	15	2645	c.2644C>T	c.(2644-2646)Cgg>Tgg	p.R882W	CHD3_ENST00000358181.4_Missense_Mutation_p.R823W|CHD3_ENST00000330494.7_Missense_Mutation_p.R823W	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	823	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAAGGACAGCCGGGCCATCAT	0.498													T	7802784	C	T	7802784	3	4	364	1	0	0	0	0	1	0	0	0	3356	643	23	1	2806	1	CHD3	17	7802784	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49360	7802784	73392426	12076	35578											
CHD3	1107	broad.mit.edu	37	chr17	7803351	7803351	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagaacaaccagtccaaGgtgagtgaggtttccagacc	13	7	10	11	0	1	4	1	2	0	2	3	4	3	4	4	2	2	1	4	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7803351G>T	ENST00000380358.4	+	16	2860	c.2859G>T	c.(2857-2859)aaG>aaT	p.K953N	CHD3_ENST00000358181.4_Splice_Site_p.K894N|CHD3_ENST00000330494.7_Splice_Site_p.K894N	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	894					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				ACCAGTCCAAGGTGAGTGAGG	0.473													T	7803351	G	T	7803351	5	4	364	1	0	0	0	0	0	0	1	0	3356	1014	35	4	3025	4	CHD3	17	7803351	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	567	7803351	73391859	12077	35579											
KCNAB3	9196	broad.mit.edu	37	chr17	7827318	7827318	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagtatctgggactcGcccatcatacttgctagtaa	10	11	8	12	1	2	0	1	0	1	0	3	1	2	1	2	1	3	4	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7827318G>A	ENST00000303790.2	-	11	894	c.895C>T	c.(895-897)Cga>Tga	p.R299*		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	299						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TCTGGGACTCGCCCATCATAC	0.552													A	7827318	G	A	7827318	4	1	364	1	0	0	0	0	0	1	0	0	8069	1095	38	1	335	1	KCNAB3	17	7827318	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23967	7827318	73367892	12078	35580											
CNTROB	116840	broad.mit.edu	37	chr17	7842843	7842843	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtaggaggaggaaaggCaagctctgactctgaggttg	10	8	17	6	0	2	2	0	2	2	0	2	5	2	5	0	6	1	5	0	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7842843C>T	ENST00000380262.3	+	8	1865	c.940C>T	c.(940-942)Caa>Taa	p.Q314*	CNTROB_ENST00000563694.1_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000565740.1_Nonsense_Mutation_p.Q314*|CNTROB_ENST00000380255.3_Nonsense_Mutation_p.Q314*	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	314					centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				GGAGGAAAGGCAAGCTCTGAC	0.577													T	7842843	C	T	7842843	4	4	364	1	0	0	0	0	0	1	0	0	3682	711	25	2	970	2	CNTROB	17	7842843	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15525	7842843	73352367	12079	35581											
CNTROB	116840	broad.mit.edu	37	chr17	7849174	7849174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagccgggaagcaagggaCgagctacctggagcgcctcc	10	3	15	13	3	0	1	0	0	0	1	1	5	1	4	4	3	5	2	4	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7849174C>T	ENST00000380262.3	+	13	2788	c.1863C>T	c.(1861-1863)gaC>gaT	p.D621D	CNTROB_ENST00000563694.1_Silent_p.D621D|CNTROB_ENST00000565740.1_Silent_p.D621D|CNTROB_ENST00000380255.3_3'UTR	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	621	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				AAGCAAGGGACGAGCTACCTG	0.607													T	7849174	C	T	7849174	2	4	364	1	0	0	0	0	0	0	0	1	3682	535	19	1		1	CNTROB	17	7849174	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6331	7849174	73346036	12080	35582											
ALOX12B	242	broad.mit.edu	37	chr17	7983639	7983639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtccaacaggccgcggActttgaaagccagtgcccta	10	7	11	13	2	0	1	0	1	0	0	1	2	1	2	4	2	4	1	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:7983639A>G	ENST00000319144.4	-	6	928	c.668T>C	c.(667-669)gTc>gCc	p.V223A	AC129492.6_ENST00000399413.3_Missense_Mutation_p.D107G	NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	223	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						CAGGCCGCGGACTTTGAAAGC	0.592										Multiple Myeloma(8;0.094)	OREG0024153	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	7983639	A	G	7983639	3	3	364	1	0	0	0	0	1	0	0	0	537	275	10	3	1477	3	ALOX12B	17	7983639	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	134465	7983639	73211571	12081	35583											
PER1	5187	broad.mit.edu	37	chr17	8051983	8051983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgtaacccgaatggatgcGctctgcaatcagcaggcagc	10	8	11	12	3	2	0	1	0	1	0	3	2	2	1	1	2	5	5	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8051983G>A	ENST00000317276.4	-	8	1264	c.1027C>T	c.(1027-1029)Cgc>Tgc	p.R343C	PER1_ENST00000581082.1_Missense_Mutation_p.R323C|PER1_ENST00000354903.5_Missense_Mutation_p.R327C	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	343					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GAATGGATGCGCTCTGCAATC	0.622			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					A	8051983	G	A	8051983	3	1	364	1	0	0	0	0	1	0	0	0	11805	1087	38	1	2909	1	PER1	17	8051983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68344	8051983	73143227	12082	35584											
PER1	5187	broad.mit.edu	37	chr17	8053349	8053349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagggtcccagagcggcCcttgccccggcgctctggcg	3	5	16	17	4	1	1	0	0	1	1	2	1	2	1	5	5	2	1	5	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8053349C>T	ENST00000317276.4	-	4	706	c.469G>A	c.(469-471)Ggc>Agc	p.G157S	PER1_ENST00000581082.1_Missense_Mutation_p.G157S|PER1_ENST00000354903.5_Missense_Mutation_p.G141S	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	157					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CCAGAGCGGCCCTTGCCCCGG	0.642			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					T	8053349	C	T	8053349	3	4	364	1	0	0	0	0	1	0	0	0	11805	623	22	2	3483	2	PER1	17	8053349	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1366	8053349	73141861	12083	35585											
PFAS	5198	broad.mit.edu	37	chr17	8158983	8158983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgggtgagggccggcttgCgctggagaaggccaaccagg	8	5	18	10	2	0	2	0	1	0	1	0	3	0	2	3	6	2	2	3	6	2	1	rs139148307		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8158983C>T	ENST00000314666.6	+	5	681	c.548C>T	c.(547-549)gCg>gTg	p.A183V	PFAS_ENST00000545834.1_Intron	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	183					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GGCCGGCTTGCGCTGGAGAAG	0.592													T	8158983	C	T	8158983	3	4	364	1	0	0	0	0	1	0	0	0	11831	768	27	1	562	1	PFAS	17	8158983	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105634	8158983	73036227	12084	35586											
PFAS	5198	broad.mit.edu	37	chr17	8159164	8159164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctagacttctacaccaagCgcttccaggagctacagcgg	11	7	9	14	2	1	1	0	0	1	1	2	2	2	2	3	2	5	2	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8159164C>T	ENST00000314666.6	+	6	749	c.616C>T	c.(616-618)Cgc>Tgc	p.R206C	PFAS_ENST00000545834.1_5'UTR	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	206					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CTACACCAAGCGCTTCCAGGA	0.537													T	8159164	C	T	8159164	3	4	364	1	0	0	0	0	1	0	0	0	11831	768	27	1	634	1	PFAS	17	8159164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181	8159164	73036046	12085	35587											
PFAS	5198	broad.mit.edu	37	chr17	8169287	8169287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accctccagacctggaccttCctgagaacttggtgcgggcc	7	8	11	15	1	0	2	0	1	0	2	2	4	2	3	6	3	2	0	6	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8169287C>T	ENST00000314666.6	+	21	2786	c.2653C>T	c.(2653-2655)Cct>Tct	p.P885S	PFAS_ENST00000545834.1_Missense_Mutation_p.P461S	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	885					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCTGGACCTTCCTGAGAACTT	0.642													T	8169287	C	T	8169287	3	4	364	1	0	0	0	0	1	0	0	0	11831	855	30	2	2731	2	PFAS	17	8169287	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10123	8169287	73025923	12086	35588											
PFAS	5198	broad.mit.edu	37	chr17	8170106	8170106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgaggagccaggcctcGtgctggaggtgcaggagcca	7	6	17	11	2	0	1	0	1	0	0	2	4	0	4	3	5	4	3	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8170106G>A	ENST00000314666.6	+	23	2990	c.2857G>A	c.(2857-2859)Gtg>Atg	p.V953M	PFAS_ENST00000545834.1_Missense_Mutation_p.V529M	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	953					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCCAGGCCTCGTGCTGGAGGT	0.662													A	8170106	G	A	8170106	3	1	364	1	0	0	0	0	1	0	0	0	11831	1145	40	1	2943	1	PFAS	17	8170106	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	819	8170106	73025104	12087	35589											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216239	8216239	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggctacctgtctcccacaGatgctggcctggcctgccct	5	10	10	16	0	1	1	0	0	1	1	2	1	1	1	5	3	3	2	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8216239G>T	ENST00000361926.3	+	3	711		c.e3-1		ARHGEF15_ENST00000421050.1_Splice_Site	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15						negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GTCTCCCACAGATGCTGGCCT	0.632													T	8216239	G	T	8216239	5	4	364	1	0	0	0	0	0	0	1	0	901	956	33	4	607	4	ARHGEF15	17	8216239	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46133	8216239	72978971	12088	35590											
ARHGEF15	22899	broad.mit.edu	37	chr17	8218780	8218780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctacctgcgctccctgCggctgctgaccgacaccttc	4	10	8	19	3	0	1	0	1	0	0	3	2	2	1	5	1	4	3	5	1	1	3	rs139047802		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8218780C>T	ENST00000361926.3	+	7	1419	c.1309C>T	c.(1309-1311)Cgg>Tgg	p.R437W	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R437W	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	437	DH.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						GCGCTCCCTGCGGCTGCTGAC	0.607													T	8218780	C	T	8218780	3	4	364	1	0	0	0	0	1	0	0	0	901	759	27	1	1331	1	ARHGEF15	17	8218780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2541	8218780	72976430	12089	35591											
NDEL1	81565	broad.mit.edu	37	chr17	8363388	8363388	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccaagcatcacgaaaatCctatatttcagggaatgtta	15	10	8	8	1	2	0	2	0	0	0	3	3	3	2	2	2	1	2	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8363388C>A	ENST00000334527.7	+	8	1051	c.854C>A	c.(853-855)tCc>tAc	p.S285Y	NDEL1_ENST00000380025.4_Intron|NDEL1_ENST00000585098.1_Intron|NDEL1_ENST00000299734.7_Missense_Mutation_p.S285Y|NDEL1_ENST00000402554.3_Missense_Mutation_p.S285Y	NM_030808.4	NP_110435.1	Q9GZM8	NDEL1_HUMAN	nudE neurodevelopment protein 1-like 1	285	Interaction with CENPF.|Interaction with NEFL (By similarity).|Required for localization to the centrosome and interaction with dynein, dynactin, tubulin gamma, PCM1 and PCNT1.				chromosome segregation|mitotic prometaphase	condensed chromosome kinetochore|cytosol|microtubule|spindle				large_intestine(6)|lung(4)|skin(3)	13						TCACGAAAATCCTATATTTCA	0.413													A	8363388	C	A	8363388	3	1	364	1	0	0	0	0	1	0	0	0	10320	855	30	4	880	4	NDEL1	17	8363388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144608	8363388	72831822	12090	35592											
MYH10	4628	broad.mit.edu	37	chr17	8393675	8393675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgtttgatcagcagccGcttcttctcttcattctgct	5	17	6	13	1	5	1	2	1	3	0	6	1	5	1	2	0	4	4	2	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8393675G>A	ENST00000360416.3	-	35	5005	c.4867C>T	c.(4867-4869)Cgg>Tgg	p.R1623W	MYH10_ENST00000269243.4_Missense_Mutation_p.R1592W|MYH10_ENST00000379980.4_Missense_Mutation_p.R1608W|MYH10_ENST00000396239.1_Missense_Mutation_p.R1613W	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1592					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						ATCAGCAGCCGCTTCTTCTCT	0.557													A	8393675	G	A	8393675	3	1	364	1	0	0	0	0	1	0	0	0	10106	1086	38	1	1192	1	MYH10	17	8393675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30287	8393675	72801535	12091	35593											
MYH10	4628	broad.mit.edu	37	chr17	8415869	8415869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcatgtagaatctcttctAattcctgctttttagcagca	10	16	6	9	0	3	1	1	0	2	1	5	1	4	1	1	0	3	4	1	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8415869A>G	ENST00000360416.3	-	24	2990	c.2852T>C	c.(2851-2853)tTa>tCa	p.L951S	MYH10_ENST00000269243.4_Missense_Mutation_p.L920S|MYH10_ENST00000379980.4_Missense_Mutation_p.L936S|MYH10_ENST00000396239.1_Missense_Mutation_p.L941S	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	920					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AATCTCTTCTAATTCCTGCTT	0.393													G	8415869	A	G	8415869	3	3	364	1	0	0	0	0	1	0	0	0	10106	372	13	3	3251	3	MYH10	17	8415869	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22194	8415869	72779341	12092	35594											
MYH10	4628	broad.mit.edu	37	chr17	8508150	8508150	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatttccaattaccttgaaGcatgcatctgtaagcagatt	13	14	6	8	0	1	2	0	1	1	1	2	2	2	2	2	0	4	4	2	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8508150G>T	ENST00000360416.3	-	3	634	c.496C>A	c.(496-498)Ctt>Att	p.L166I	MYH10_ENST00000269243.4_Missense_Mutation_p.L166I|MYH10_ENST00000379980.4_Missense_Mutation_p.L166I|MYH10_ENST00000396239.1_Missense_Mutation_p.L166I	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	166	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TTACCTTGAAGCATGCATCTG	0.303													T	8508150	G	T	8508150	3	4	364	1	0	0	0	0	1	0	0	0	10106	971	34	4	5590	4	MYH10	17	8508150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92281	8508150	72687060	12093	35595											
MFSD6L	162387	broad.mit.edu	37	chr17	8702189	8702189	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccaccgagccgagcaGggagccgatcagaagcgctc	9	2	14	16	4	1	1	1	0	0	1	2	5	1	2	5	2	4	2	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702189G>T	ENST00000329805.4	-	1	478	c.250C>A	c.(250-252)Ctg>Atg	p.L84M		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	84						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						GAGCCGAGCAGGGAGCCGATC	0.602													T	8702189	G	T	8702189	3	4	364	1	0	0	0	0	1	0	0	0	9611	991	35	4	1514	4	MFSD6L	17	8702189	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194039	8702189	72493021	12094	35596											
MFSD6L	162387	broad.mit.edu	37	chr17	8702265	8702265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgggagcccagaaggcagcGattaggtgcttggttcccat	9	8	14	10	2	0	1	0	0	0	1	1	3	1	2	2	4	3	3	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8702265G>A	ENST00000329805.4	-	1	402	c.174C>T	c.(172-174)atC>atT	p.I58I		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	58						integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						AGAAGGCAGCGATTAGGTGCT	0.652													A	8702265	G	A	8702265	2	1	364	1	0	0	0	0	0	0	0	1	9611	1048	37	1		1	MFSD6L	17	8702265	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76	8702265	72492945	12095	35597											
PIK3R6	146850	broad.mit.edu	37	chr17	8736358	8736358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccagggtgcggcgagggCtggcctgttggggaggggcg	3	6	23	9	3	0	0	0	0	0	0	1	2	1	1	2	8	1	3	2	8	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8736358C>T	ENST00000311434.9	-	9	889	c.650G>A	c.(649-651)aGc>aAc	p.S217N	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	217					platelet activation	cytosol											GCGGCGAGGGCTGGCCTGTTG	0.701													T	8736358	C	T	8736358	3	4	364	1	0	0	0	0	1	0	0	0	12000	797	28	2	1661	2	PIK3R6	17	8736358	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34093	8736358	72458852	12096	35598											
PIK3R5	23533	broad.mit.edu	37	chr17	8792129	8792129	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacctcctcctcctcCtcttcctcctcttcatcatc	3	15	0	23	0	4	0	2	0	2	0	13	0	12	0	9	0	0	0	9	0	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:8792129C>T	ENST00000447110.1	-	10	1099	c.975G>A	c.(973-975)gaG>gaA	p.E325E	PIK3R5_ENST00000584803.1_Silent_p.E325E|PIK3R5_ENST00000581552.1_Silent_p.E325E	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	325				DILQEILLKEQELLQPGILGDDEEEEEEEEEVEEDLETDGH CAERDSLLSTSSLASHDSTLSLASSQASG -> GNIEGDPG PRRPDSAGLASLQTSCRKSCSRNRSYSSQGSWEMMKRRERR RRRWRRTWKLTGTVPREIPCS (in Ref. 6; AAW63121).	platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						cctcctcctcctcttcctcct	0.582													T	8792129	C	T	8792129	2	4	364	1	0	0	0	0	0	0	0	1	11999	680	24	2		2	PIK3R5	17	8792129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55771	8792129	72403081	12097	35599											
WDR16	146845	broad.mit.edu	37	chr17	9532104	9532104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatgacctgccacggcatcGacttcatgagggacggcaaa	12	6	11	12	3	1	2	1	2	0	0	2	4	1	3	2	3	1	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9532104G>A	ENST00000352665.5	+	9	1210	c.1141G>A	c.(1141-1143)Gac>Aac	p.D381N	WDR16_ENST00000396219.3_Missense_Mutation_p.D313N|WDR16_ENST00000299764.5_Missense_Mutation_p.D391N	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	381						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CCACGGCATCGACTTCATGAG	0.527													A	9532104	G	A	9532104	3	1	364	1	0	0	0	0	1	0	0	0	17378	1058	37	1	1175	1	WDR16	17	9532104	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	739975	9532104	71663106	12098	35600											
WDR16	146845	broad.mit.edu	37	chr17	9536300	9536300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcggcgtcaccgccatcGccaccaccagtgactgtaaa	10	6	10	15	4	1	1	1	1	0	0	3	2	1	2	5	2	0	1	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9536300G>A	ENST00000352665.5	+	10	1339	c.1270G>A	c.(1270-1272)Gcc>Acc	p.A424T	WDR16_ENST00000576714.1_3'UTR|WDR16_ENST00000396219.3_Missense_Mutation_p.A356T|WDR16_ENST00000299764.5_Missense_Mutation_p.A434T	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	424						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						CACCGCCATCGCCACCACCAG	0.512													A	9536300	G	A	9536300	3	1	364	1	0	0	0	0	1	0	0	0	17378	1087	38	1	1308	1	WDR16	17	9536300	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4196	9536300	71658910	12099	35601											
USP43	124739	broad.mit.edu	37	chr17	9632095	9632095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccagagggcctggccaggGgcctgggcagccggctcgag	5	4	18	14	2	0	1	0	0	0	1	2	2	1	1	5	6	1	2	5	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632095G>T	ENST00000285199.7	+	15	3256	c.3160G>T	c.(3160-3162)Ggc>Tgc	p.G1054C	USP43_ENST00000570475.1_Missense_Mutation_p.G1049C|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCTGGCCAGGGGCCTGGGCAG	0.711													T	9632095	G	T	9632095	3	4	364	1	0	0	0	0	1	0	0	0	17176	1232	43	4	3218	4	USP43	17	9632095	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95795	9632095	71563115	12100	35602											
USP43	124739	broad.mit.edu	37	chr17	9632155	9632155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagctctctccgcctccctCgtaaagccagcagggccccg	6	6	9	20	3	1	0	0	0	1	0	5	0	3	0	7	1	3	3	7	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9632155C>T	ENST00000285199.7	+	15	3316	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	USP43_ENST00000570475.1_Missense_Mutation_p.R1069C|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						CCGCCTCCCTCGTAAAGCCAG	0.632													T	9632155	C	T	9632155	3	4	364	1	0	0	0	0	1	0	0	0	17176	884	31	1	3278	1	USP43	17	9632155	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	9632155	71563055	12101	35603											
DHRS7C	201140	broad.mit.edu	37	chr17	9674949	9674949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcttcttcctccgcacGgtgcgcatcacctcctccgc	3	12	7	19	4	3	0	1	0	2	0	7	0	7	0	5	1	2	3	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9674949G>A	ENST00000330255.5	-	6	807	c.795C>T	c.(793-795)acC>acT	p.T265T	DHRS7C_ENST00000571134.1_Silent_p.T264T	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C							extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						TCCTCCGCACGGTGCGCATCA	0.607													A	9674949	G	A	9674949	2	1	364	1	0	0	0	0	0	0	0	1	4536	1103	39	1		1	DHRS7C	17	9674949	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42794	9674949	71520261	12102	35604											
GLP2R	9340	broad.mit.edu	37	chr17	9729552	9729552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcctcactctggtcctgCtggtttccatcaagcaagta	7	13	7	14	0	3	0	2	0	1	0	6	0	6	0	4	2	2	4	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9729552C>T	ENST00000262441.5	+	1	685	c.172C>T	c.(172-174)Ctg>Ttg	p.L58L	GLP2R_ENST00000574745.1_Intron	NM_004246.1	NP_004237.1	O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor	58					G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	TCTGGTCCTGCTGGTTTCCAT	0.488													T	9729552	C	T	9729552	2	4	364	1	0	0	0	0	0	0	0	1	6509	796	28	2		2	GLP2R	17	9729552	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54603	9729552	71465658	12103	35605											
RCVRN	5957	broad.mit.edu	37	chr17	9801418	9801418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaacagttggcatcaggcGttcttcatcttttccttcac	7	15	7	12	1	5	1	3	1	2	0	6	1	6	1	1	2	1	3	1	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:9801418G>A	ENST00000226193.5	-	3	1037	c.597C>T	c.(595-597)aaC>aaT	p.N199N	RCVRN_ENST00000570909.3_5'UTR	NM_002903.2	NP_002894.1	P35243	RECO_HUMAN	recoverin	199					visual perception		calcium ion binding|calcium sensitive guanylate cyclase activator activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	12						GGCATCAGGCGTTCTTCATCT	0.507													A	9801418	G	A	9801418	2	1	364	1	0	0	0	0	0	0	0	1	13274	1136	40	1		1	RCVRN	17	9801418	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71866	9801418	71393792	12104	35606											
MYH13	8735	broad.mit.edu	37	chr17	10210259	10210259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaacagagctcacatcCgtgatggccttcttggcctt	9	10	11	11	1	2	3	1	1	1	2	3	4	3	4	3	3	2	1	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10210259C>T	ENST00000418404.3	-	35	5455	c.5292G>A	c.(5290-5292)acG>acA	p.T1764T	MYH13_ENST00000252172.4_Silent_p.T1764T|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1764					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AGCTCACATCCGTGATGGCCT	0.517													T	10210259	C	T	10210259	2	4	364	1	0	0	0	0	0	0	0	1	10108	639	23	1		1	MYH13	17	10210259	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	408841	10210259	70984951	12105	35607											
MYH13	8735	broad.mit.edu	37	chr17	10253954	10253954	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgcatcacggctcccgTcagtttgtagatcccgactt	9	12	8	12	3	2	1	2	0	0	1	4	2	4	1	2	1	1	4	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10253954T>C	ENST00000418404.3	-	11	1226	c.1063A>G	c.(1063-1065)Acg>Gcg	p.T355A	MYH13_ENST00000252172.4_Missense_Mutation_p.T355A			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	355	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						ACGGCTCCCGTCAGTTTGTAG	0.512													C	10253954	T	C	10253954	3	2	364	1	0	0	0	0	1	0	0	0	10108	1667	58	3	4873	3	MYH13	17	10253954	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43695	10253954	70941256	12106	35608											
MYH8	4626	broad.mit.edu	37	chr17	10304604	10304604	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttacatcatccacttgCtgttctagcttggttttagc	6	17	8	10	0	2	0	1	0	1	0	3	0	3	0	1	1	5	5	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10304604C>G	ENST00000403437.2	-	24	3190	c.3096G>C	c.(3094-3096)caG>caC	p.Q1032H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1032					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CATCCACTTGCTGTTCTAGCT	0.378									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				G	10304604	C	G	10304604	3	3	364	1	0	0	0	0	1	0	0	0	10117	796	28	4	2785	4	MYH8	17	10304604	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50650	10304604	70890606	12107	35609											
MYH8	4626	broad.mit.edu	37	chr17	10318841	10318841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtaactgcaattgttGcaaagtattggatgacacgc	12	11	9	9	1	0	1	0	1	0	0	1	2	1	2	1	1	3	5	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10318841G>A	ENST00000403437.2	-	7	690	c.596C>T	c.(595-597)gCa>gTa	p.A199V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	199	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCAATTGTTGCAAAGTATTG	0.458									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10318841	G	A	10318841	3	1	364	1	0	0	0	0	1	0	0	0	10117	1319	46	2	5353	2	MYH8	17	10318841	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14237	10318841	70876369	12108	35610											
MYH4	4622	broad.mit.edu	37	chr17	10355428	10355428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagcagctgccgtggcttCgtgctgcagggtggactctt	6	10	15	10	2	1	1	0	0	1	1	2	2	1	2	1	3	5	5	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10355428C>T	ENST00000255381.2	-	27	3678	c.3568G>A	c.(3568-3570)Gaa>Aaa	p.E1190K	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1190					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GCCGTGGCTTCGTGCTGCAGG	0.582													T	10355428	C	T	10355428	3	4	364	1	0	0	0	0	1	0	0	0	10113	893	31	1	2307	1	MYH4	17	10355428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36587	10355428	70839782	12109	35611											
MYH1	4619	broad.mit.edu	37	chr17	10397683	10397683	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaactcaccgcttcttcagcTtgtctcttgtaggatttcac	7	15	7	12	1	5	0	3	0	2	0	6	2	5	1	1	1	2	3	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10397683T>C	ENST00000226207.5	-	39	5749	c.5655A>G	c.(5653-5655)caA>caG	p.Q1885Q	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1885						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCTTCAGCTTGTCTCTTGT	0.428													C	10397683	T	C	10397683	2	2	364	1	0	0	0	0	0	0	0	1	10105	1606	56	3		3	MYH1	17	10397683	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42255	10397683	70797527	12110	35612											
MYH1	4619	broad.mit.edu	37	chr17	10398332	10398332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacgatgctgcaggtccttCaccgtctgttccaggttctt	6	13	10	12	2	3	1	1	0	2	1	5	2	5	1	3	2	2	4	3	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10398332C>T	ENST00000226207.5	-	37	5476	c.5382G>A	c.(5380-5382)gtG>gtA	p.V1794V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1794						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGGTCCTTCACCGTCTGTT	0.557													T	10398332	C	T	10398332	2	4	364	1	0	0	0	0	0	0	0	1	10105	813	29	2		2	MYH1	17	10398332	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	649	10398332	70796878	12111	35613											
MYH1	4619	broad.mit.edu	37	chr17	10399784	10399784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcctcatctttttcagcaAttttcctatcaacctcagac	9	17	2	13	0	5	1	4	0	1	1	7	1	7	1	3	0	2	1	3	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10399784A>C	ENST00000226207.5	-	34	4833	c.4739T>G	c.(4738-4740)aTt>aGt	p.I1580S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1580						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.I1580T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TTTTTCAGCAATTTTCCTATC	0.448													C	10399784	A	C	10399784	3	2	364	1	0	0	0	0	1	0	0	0	10105	101	4	5	1108	5	MYH1	17	10399784	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1452	10399784	70795426	12112	35614											
MYH1	4619	broad.mit.edu	37	chr17	10402092	10402092	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgttcccgcagcaggtcAcagtcatggcgggaggactg	8	8	14	11	2	2	0	2	0	0	0	3	2	3	2	1	4	2	3	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10402092A>G	ENST00000226207.5	-	30	4126	c.4032T>C	c.(4030-4032)tgT>tgC	p.C1344C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1344						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GCAGCAGGTCACAGTCATGGC	0.512													G	10402092	A	G	10402092	2	3	364	1	0	0	0	0	0	0	0	1	10105	157	6	3		3	MYH1	17	10402092	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2308	10402092	70793118	12113	35615											
MYH1	4619	broad.mit.edu	37	chr17	10404994	10404994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagaccgctcatttcaaActctttcctattagaaaagc	12	13	5	11	1	3	2	2	0	1	2	4	2	4	2	2	0	3	2	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10404994A>G	ENST00000226207.5	-	26	3359	c.3265T>C	c.(3265-3267)Ttt>Ctt	p.F1089L	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1089						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCATTTCAAACTCTTTCCTA	0.358													G	10404994	A	G	10404994	3	3	364	1	0	0	0	0	1	0	0	0	10105	43	2	3	2614	3	MYH1	17	10404994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2902	10404994	70790216	12114	35616											
MYH1	4619	broad.mit.edu	37	chr17	10417403	10417403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaagtactggatgacaCgcttggtgttcacagtcttc	9	13	10	9	1	2	1	1	1	1	0	3	2	2	2	0	2	2	4	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10417403C>T	ENST00000226207.5	-	7	666	c.572G>A	c.(571-573)cGt>cAt	p.R191H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	191	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGGATGACACGCTTGGTGTT	0.433													T	10417403	C	T	10417403	3	4	364	1	0	0	0	0	1	0	0	0	10105	536	19	1	5383	1	MYH1	17	10417403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12409	10417403	70777807	12115	35617											
MYH2	4620	broad.mit.edu	37	chr17	10428206	10428206	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcctaatggcatcattcctActcctgatctcagcatccag	10	11	6	14	0	2	1	2	1	1	0	6	1	5	1	4	1	3	2	4	1	2	3	rs1042185		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10428206A>G	ENST00000245503.5	-	34	5223	c.4839T>C	c.(4837-4839)agT>agC	p.S1613S	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.S1613S|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1613					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CATCATTCCTACTCCTGATCT	0.483													G	10428206	A	G	10428206	2	3	364	1	0	0	0	0	0	0	0	1	10111	388	14	3		3	MYH2	17	10428206	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10803	10428206	70767004	12116	35618											
MYH2	4620	broad.mit.edu	37	chr17	10429105	10429105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgacctcattctgcagccGctgcttcgtcttttcgaggg	4	13	10	14	4	3	0	1	0	2	0	6	2	3	0	2	1	3	3	2	1	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10429105G>A	ENST00000245503.5	-	31	4660	c.4276C>T	c.(4276-4278)Cgg>Tgg	p.R1426W	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1426W|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1426					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TTCTGCAGCCGCTGCTTCGTC	0.512													A	10429105	G	A	10429105	3	1	364	1	0	0	0	0	1	0	0	0	10111	1086	38	1	1589	1	MYH2	17	10429105	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	899	10429105	70766105	12117	35619											
MYH2	4620	broad.mit.edu	37	chr17	10432210	10432210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctccaggtccctgcGcattttctggaactcagcct	5	11	9	16	1	2	0	1	0	1	0	5	1	5	1	5	3	3	1	5	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10432210G>A	ENST00000245503.5	-	27	3925	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592													A	10432210	G	A	10432210	3	1	364	1	0	0	0	0	1	0	0	0	10111	1087	38	1	2340	1	MYH2	17	10432210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3105	10432210	70763000	12118	35620											
MYH2	4620	broad.mit.edu	37	chr17	10451166	10451166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctattctgggcctcaatGcgctccctttcagactttcg	5	13	9	14	2	3	1	2	0	1	1	5	1	4	1	3	2	1	1	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10451166G>A	ENST00000245503.5	-	3	456	c.72C>T	c.(70-72)cgC>cgT	p.R24R	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Silent_p.R24R|MYH2_ENST00000532183.2_Silent_p.R24R	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	24	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GGGCCTCAATGCGCTCCCTTT	0.512													A	10451166	G	A	10451166	2	1	364	1	0	0	0	0	0	0	0	1	10111	1306	46	2		2	MYH2	17	10451166	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18956	10451166	70744044	12119	35621											
MYH3	4621	broad.mit.edu	37	chr17	10535318	10535318	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccggagggcatcatccaGgtggagctgcgtatcctagc	7	7	14	13	2	1	0	1	0	0	0	3	2	3	2	4	4	3	3	4	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10535318G>T	ENST00000583535.1	-	35	5059	c.4972C>A	c.(4972-4974)Ctg>Atg	p.L1658M	MYH3_ENST00000226209.7_Missense_Mutation_p.L1658M	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1658					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GCATCATCCAGGTGGAGCTGC	0.567													T	10535318	G	T	10535318	3	4	364	1	0	0	0	0	1	0	0	0	10112	991	35	4	878	4	MYH3	17	10535318	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84152	10535318	70659892	12120	35622											
MYH3	4621	broad.mit.edu	37	chr17	10543493	10543493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggggcttgatcttgaaGaagagtttcatccagggcca	11	9	14	7	0	2	4	1	2	1	2	3	5	3	5	2	4	0	2	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10543493G>T	ENST00000583535.1	-	22	2589	c.2502C>A	c.(2500-2502)ttC>ttA	p.F834L	MYH3_ENST00000226209.7_Missense_Mutation_p.F834L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	834					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TGATCTTGAAGAAGAGTTTCA	0.458													T	10543493	G	T	10543493	3	4	364	1	0	0	0	0	1	0	0	0	10112	933	33	4	3400	4	MYH3	17	10543493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8175	10543493	70651717	12121	35623											
MYH3	4621	broad.mit.edu	37	chr17	10545871	10545871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtagtccacggtgcccGcatagtggatcagtgagaag	10	8	13	10	2	1	1	1	1	0	1	2	3	2	2	2	2	1	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545871G>A	ENST00000583535.1	-	16	1838	c.1751C>T	c.(1750-1752)gCg>gTg	p.A584V	MYH3_ENST00000226209.7_Missense_Mutation_p.A584V	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	584	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CACGGTGCCCGCATAGTGGAT	0.537													A	10545871	G	A	10545871	3	1	364	1	0	0	0	0	1	0	0	0	10112	1087	38	1	4175	1	MYH3	17	10545871	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2378	10545871	70649339	12122	35624											
MYH3	4621	broad.mit.edu	37	chr17	10545980	10545980	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagcttgttcttgaaggAggtgtctgttgccttgggga	7	14	14	6	0	2	1	0	1	2	0	2	3	2	3	1	4	3	3	1	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10545980A>G	ENST00000583535.1	-	16	1729	c.1642T>C	c.(1642-1644)Tcc>Ccc	p.S548P	MYH3_ENST00000226209.7_Missense_Mutation_p.S548P	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	548	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TTCTTGAAGGAGGTGTCTGTT	0.507													G	10545980	A	G	10545980	3	3	364	1	0	0	0	0	1	0	0	0	10112	304	11	3	4284	3	MYH3	17	10545980	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	109	10545980	70649230	12123	35625											
SCO1	6341	broad.mit.edu	37	chr17	10590075	10590075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcttcgtccttggggccaGggctgtaatacactctgtat	7	13	10	11	1	2	0	0	0	2	0	4	0	3	0	2	3	1	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:10590075G>T	ENST00000255390.5	-	5	800	c.740C>A	c.(739-741)cCt>cAt	p.P247H	SCO1_ENST00000577427.1_Missense_Mutation_p.P216H	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	247					cellular copper ion homeostasis|copper ion transport|generation of precursor metabolites and energy|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						CTTGGGGCCAGGGCTGTAATA	0.443													T	10590075	G	T	10590075	3	4	364	1	0	0	0	0	1	0	0	0	14024	1000	35	4	173	4	SCO1	17	10590075	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44095	10590075	70605135	12124	35626											
DNAH9	1770	broad.mit.edu	37	chr17	11550472	11550472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaccacttctaaaacGtgacccagagacgaaggaga	15	6	8	12	2	1	3	0	1	1	2	2	6	2	3	3	1	2	0	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11550472G>A	ENST00000262442.4	+	12	2122	c.2054G>A	c.(2053-2055)cGt>cAt	p.R685H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R685H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R685H(1)		NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTTCTAAAACGTGACCCAGAG	0.458													A	11550472	G	A	11550472	3	1	364	1	0	0	0	0	1	0	0	0	4647	1145	40	1	2100	1	DNAH9	17	11550472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960397	11550472	69644738	12125	35627											
DNAH9	1770	broad.mit.edu	37	chr17	11556116	11556116	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatcaccagtagtattCatgatcttgaacaaagaatt	16	12	6	7	0	3	4	2	3	1	1	3	4	3	4	1	0	1	2	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11556116C>A	ENST00000262442.4	+	14	2460	c.2392C>A	c.(2392-2394)Cat>Aat	p.H798N	DNAH9_ENST00000454412.2_Missense_Mutation_p.H798N	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CAGTAGTATTCATGATCTTGA	0.363													A	11556116	C	A	11556116	3	1	364	1	0	0	0	0	1	0	0	0	4647	826	29	4	2446	4	DNAH9	17	11556116	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5644	11556116	69639094	12126	35628											
DNAH9	1770	broad.mit.edu	37	chr17	11593175	11593175	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccggcatatccgaaacCtggacaaggaggtcagggcc	10	6	13	12	2	1	0	1	0	0	0	2	3	2	2	4	5	2	1	4	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11593175C>A	ENST00000262442.4	+	20	4104	c.4036C>A	c.(4036-4038)Ctg>Atg	p.L1346M	DNAH9_ENST00000454412.2_Missense_Mutation_p.L1346M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TATCCGAAACCTGGACAAGGA	0.572													A	11593175	C	A	11593175	3	1	364	1	0	0	0	0	1	0	0	0	4647	680	24	4	4114	4	DNAH9	17	11593175	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37059	11593175	69602035	12127	35629											
DNAH9	1770	broad.mit.edu	37	chr17	11603079	11603079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttccaaactctttgacaAcatggccaagatgcgattcc	11	11	6	13	1	1	2	0	1	1	1	3	3	3	2	4	1	3	0	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11603079A>G	ENST00000262442.4	+	23	4972	c.4904A>G	c.(4903-4905)aAc>aGc	p.N1635S	DNAH9_ENST00000454412.2_Missense_Mutation_p.N1635S	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCTTTGACAACATGGCCAAG	0.458													G	11603079	A	G	11603079	3	3	364	1	0	0	0	0	1	0	0	0	4647	43	2	3	4994	3	DNAH9	17	11603079	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9904	11603079	69592131	12128	35630											
DNAH9	1770	broad.mit.edu	37	chr17	11790177	11790177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgactgaagtgaaaatcaaCgaggcccgagagcactaccg	14	5	12	10	3	1	4	1	3	0	1	1	6	1	4	2	1	3	1	2	1	5	1	rs151325104	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11790177C>T	ENST00000262442.4	+	57	11075	c.11007C>T	c.(11005-11007)aaC>aaT	p.N3669N	DNAH9_ENST00000454412.2_Silent_p.N3669N|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_5'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGAAAATCAACGAGGCCCGAG	0.522													T	11790177	C	T	11790177	2	4	364	1	0	0	0	0	0	0	0	1	4647	535	19	1		1	DNAH9	17	11790177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187098	11790177	69405033	12129	35631											
DNAH9	1770	broad.mit.edu	37	chr17	11872633	11872633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggctgggatcattacagAggcaaagctgaaggatctga	13	8	13	7	0	3	3	2	2	1	1	3	5	3	5	0	4	2	3	0	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11872633A>G	ENST00000262442.4	+	69	13318	c.13250A>G	c.(13249-13251)gAg>gGg	p.E4417G	RP11-1096G20.5_ENST00000580270.1_RNA|DNAH9_ENST00000454412.2_Missense_Mutation_p.E4341G|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.E729G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ATCATTACAGAGGCAAAGCTG	0.522													G	11872633	A	G	11872633	3	3	364	1	0	0	0	0	1	0	0	0	4647	304	11	3	13524	3	DNAH9	17	11872633	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	82456	11872633	69322577	12130	35632											
ZNF18	7566	broad.mit.edu	37	chr17	11881326	11881326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgatgtttgtcaaggctcGagctccagctgaaacttttc	8	15	9	9	1	1	2	1	2	0	0	4	3	2	2	1	1	3	4	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11881326G>A	ENST00000322748.3	-	9	2202	c.1598C>T	c.(1597-1599)tCg>tTg	p.S533L	ZNF18_ENST00000454073.3_Missense_Mutation_p.S532L|ZNF18_ENST00000580306.2_Missense_Mutation_p.S533L	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	533					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		GTCAAGGCTCGAGCTCCAGCT	0.433													A	11881326	G	A	11881326	3	1	364	1	0	0	0	0	1	0	0	0	17848	1059	37	1	55	1	ZNF18	17	11881326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8693	11881326	69313884	12131	35633											
ZNF18	7566	broad.mit.edu	37	chr17	11887482	11887482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagatcccagtattgctcCttttgagtggaatccagttg	9	14	10	8	0	0	2	0	2	0	1	3	4	3	3	3	1	1	3	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:11887482C>A	ENST00000322748.3	-	7	1303	c.699G>T	c.(697-699)aaG>aaT	p.K233N	ZNF18_ENST00000454073.3_Missense_Mutation_p.K233N|ZNF18_ENST00000580306.2_Missense_Mutation_p.K233N	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	233	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		AGTATTGCTCCTTTTGAGTGG	0.448													A	11887482	C	A	11887482	3	1	364	1	0	0	0	0	1	0	0	0	17848	680	24	4	962	4	ZNF18	17	11887482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6156	11887482	69307728	12132	35634											
MYOCD	93649	broad.mit.edu	37	chr17	12655755	12655755	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaattaagacaacagcttCgaattcggggcttgcctgtg	10	11	11	9	2	0	2	0	1	0	1	2	3	0	2	1	2	3	2	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12655755C>T	ENST00000425538.1	+	10	1350	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Nonsense_Mutation_p.R384*|AC005358.1_ENST00000609971.1_Nonsense_Mutation_p.R288*	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	384	SAP.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACAACAGCTTCGAATTCGGGG	0.453													T	12655755	C	T	12655755	4	4	364	1	0	0	0	0	0	1	0	0	10163	876	31	1	1188	1	MYOCD	17	12655755	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	768273	12655755	68539455	12133	35635											
ELAC2	60528	broad.mit.edu	37	chr17	12898155	12898155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagaggtgtgcaccagcGcacagccaaacgcatgcttg	11	5	12	13	2	0	1	0	0	0	1	0	1	0	1	3	1	6	4	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:12898155G>A	ENST00000338034.4	-	21	2194	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ELAC2_ENST00000426905.3_Missense_Mutation_p.A612V|ELAC2_ENST00000395962.2_Missense_Mutation_p.A633V	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	652					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						GTGCACCAGCGCACAGCCAAA	0.622													A	12898155	G	A	12898155	3	1	364	1	0	0	0	0	1	0	0	0	5088	1087	38	1	541	1	ELAC2	17	12898155	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	242400	12898155	68297055	12134	35636											
TEKT3	64518	broad.mit.edu	37	chr17	15215722	15215722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtcgtctcttagcttagCggaagctgcccgttcactct	7	13	9	12	3	3	0	1	0	2	0	5	1	3	1	1	1	4	3	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15215722C>T	ENST00000395930.1	-	7	1141	c.955G>A	c.(955-957)Gct>Act	p.A319T	TEKT3_ENST00000338696.2_Missense_Mutation_p.A319T	NM_031898.2	NP_114104.1	Q9BXF9	TEKT3_HUMAN	tektin 3	319					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				endometrium(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	23				UCEC - Uterine corpus endometrioid carcinoma (92;0.0877)		CTTAGCTTAGCGGAAGCTGCC	0.458													T	15215722	C	T	15215722	3	4	364	1	0	0	0	0	1	0	0	0	15854	768	27	1	529	1	TEKT3	17	15215722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2317567	15215722	65979488	12135	35637											
CDRT4	284040	broad.mit.edu	37	chr17	15341382	15341382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctttcctcgagggcaCgcatgcattccagttctcta	7	12	10	12	2	2	0	0	0	2	0	6	1	4	0	2	2	1	4	2	2	1	4	rs140524456	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15341382C>T	ENST00000312177.6	-	4	444	c.164G>A	c.(163-165)cGt>cAt	p.R55H	TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	55										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		CTCGAGGGCACGCATGCATTC	0.488													T	15341382	C	T	15341382	3	4	364	1	0	0	0	0	1	0	0	0	3206	536	19	1	295	1	CDRT4	17	15341382	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125660	15341382	65853828	12136	35638											
CDRT1	374286	broad.mit.edu	37	chr17	15510968	15510968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgctgcgtttcctcgttCtggtatgcagtccacaggtt	5	14	10	12	2	1	0	0	0	1	0	4	0	3	0	3	2	3	6	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15510968C>T	ENST00000455584.2	-	12	2125	c.2082G>A	c.(2080-2082)caG>caA	p.Q694Q	CDRT1_ENST00000395906.3_Silent_p.Q384Q																							TTTCCTCGTTCTGGTATGCAG	0.473													T	15510968	C	T	15510968	2	4	364	1	0	0	0	0	0	0	0	1	3204	912	32	2		2	CDRT1	17	15510968	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169586	15510968	65684242	12137	35639											
CDRT1	374286	broad.mit.edu	37	chr17	15518967	15518967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttcacttaccagggttaGatgctgccccaaggaagtgt	11	10	11	9	0	1	1	1	0	0	1	1	2	1	2	3	2	3	3	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15518967G>T	ENST00000455584.2	-	8	1635	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	CDRT1_ENST00000395906.3_Missense_Mutation_p.S221Y																							ACCAGGGTTAGATGCTGCCCC	0.517													T	15518967	G	T	15518967	3	4	364	1	0	0	0	0	1	0	0	0	3204	942	33	4	1640	4	CDRT1	17	15518967	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7999	15518967	65676243	12138	35640											
CDRT1	374286	broad.mit.edu	37	chr17	15522425	15522425	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagtaagagagtataattCgccttggtccactgggtgct	10	11	12	8	1	0	1	0	0	0	1	2	2	1	1	2	2	2	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15522425C>T	ENST00000395906.3	-	1	401	c.402G>A	c.(400-402)gcG>gcA	p.A134A	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	134										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		GAGTATAATTCGCCTTGGTCC	0.433													T	15522425	C	T	15522425	2	4	364	1	0	0	0	0	0	0	0	1	3204	871	31	1		1	CDRT1	17	15522425	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3458	15522425	65672785	12139	35641											
TRIM16	10626	broad.mit.edu	37	chr17	15532148	15532148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatagaccccgagcctccgGaaagggccagctttgagtgg	10	7	13	11	2	0	2	0	1	0	1	1	4	1	3	5	3	2	1	5	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532148G>A	ENST00000578237.1	-	11	2331	c.1476C>T	c.(1474-1476)ttC>ttT	p.F492F	TRIM16_ENST00000577886.1_Silent_p.F276F|TRIM16_ENST00000579219.1_3'UTR|TRIM16_ENST00000416464.2_Silent_p.F362F|RP11-385D13.1_ENST00000455584.2_Intron|TRIM16_ENST00000336708.7_Silent_p.F492F					tripartite motif containing 16											breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	19				UCEC - Uterine corpus endometrioid carcinoma (92;0.0839)|Epithelial(1;8.4e-29)|all cancers(1;3.06e-28)|Colorectal(1;1.57e-19)|OV - Ovarian serous cystadenocarcinoma(1;6.1e-17)|COAD - Colon adenocarcinoma(1;3.38e-12)|READ - Rectum adenocarcinoma(2;1.46e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0559)		CGAGCCTCCGGAAAGGGCCAG	0.532													A	15532148	G	A	15532148	2	1	364	1	0	0	0	0	0	0	0	1	16592	1165	41	2		2	TRIM16	17	15532148	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9723	15532148	65663062	12140	35642											
TRIM16	10626	broad.mit.edu	37	chr17	15532344	15532344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcaaaatagtacctgTgcaggtacagactctgctgg	11	9	9	12	0	2	1	1	0	1	1	2	1	2	1	3	2	4	4	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15532344T>C	ENST00000455584.2	-	6	1323	c.1280A>G	c.(1279-1281)cAc>cGc	p.H427R	TRIM16_ENST00000577886.1_Missense_Mutation_p.H211R|TRIM16_ENST00000579219.1_Missense_Mutation_p.T124A|TRIM16_ENST00000416464.2_Missense_Mutation_p.H297R|TRIM16_ENST00000578237.1_Missense_Mutation_p.H427R|TRIM16_ENST00000336708.7_Missense_Mutation_p.H427R																							ATAGTACCTGTGCAGGTACAG	0.597													C	15532344	T	C	15532344	3	2	364	1	0	0	0	0	1	0	0	0	16592	1696	59	3	418	3	TRIM16	17	15532344	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	196	15532344	65662866	12141	35643											
TRIM16	10626	broad.mit.edu	37	chr17	15554452	15554452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactatggtgtggccacTgtgctcctggcaacagtcct	7	10	13	11	0	0	1	0	0	0	1	2	2	2	1	3	4	2	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15554452T>C	ENST00000455584.2	-	1	515	c.472A>G	c.(472-474)Agt>Ggt	p.S158G	TRIM16_ENST00000416464.2_Intron|TRIM16_ENST00000581224.1_Intron|TRIM16_ENST00000578237.1_Missense_Mutation_p.S158G|TRIM16_ENST00000336708.7_Missense_Mutation_p.S158G																							GTGTGGCCACTGTGCTCCTGG	0.617													C	15554452	T	C	15554452	3	2	364	1	0	0	0	0	1	0	0	0	16592	1580	55	3	1246	3	TRIM16	17	15554452	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22108	15554452	65640758	12142	35644											
TBC1D26	353149	broad.mit.edu	37	chr17	15641317	15641317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcatttgacagcaaagaCgcaaggaaagtaaacgtacc	16	6	10	9	2	1	2	1	1	0	1	1	3	1	3	1	2	3	5	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15641317C>T	ENST00000437605.2	+	6	455	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	TBC1D26_ENST00000579428.1_Missense_Mutation_p.R69C|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	69						intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ACAGCAAAGACGCAAGGAAAG	0.547													T	15641317	C	T	15641317	3	4	364	1	0	0	0	0	1	0	0	0	15713	536	19	1	219	1	TBC1D26	17	15641317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86865	15641317	65553893	12143	35645											
TBC1D26	353149	broad.mit.edu	37	chr17	15643436	15643436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggaattatgtgacatcCtcgtggcctattctgcatat	10	13	9	9	1	1	1	0	1	1	0	3	2	2	2	2	2	2	2	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15643436C>T	ENST00000437605.2	+	9	770	c.520C>T	c.(520-522)Ctc>Ttc	p.L174F	AC005324.6_ENST00000433873.1_RNA|TBC1D26_ENST00000579428.1_Missense_Mutation_p.L174F|ZNF286A_ENST00000413242.2_3'UTR|AC005324.6_ENST00000434017.1_RNA	NM_178571.4	NP_848666	Q86UD7	TBC26_HUMAN	TBC1 domain family, member 26	174	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(1)|large_intestine(1)|lung(4)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(1115;0.0222)|BRCA - Breast invasive adenocarcinoma(8;0.078)		ATGTGACATCCTCGTGGCCTA	0.468													T	15643436	C	T	15643436	3	4	364	1	0	0	0	0	1	0	0	0	15713	681	24	2	546	2	TBC1D26	17	15643436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2119	15643436	65551774	12144	35646											
NCOR1	9611	broad.mit.edu	37	chr17	15935767	15935767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgctgagcatccgcataGtcagagggttataaggaaac	13	9	11	8	1	1	2	1	1	0	1	2	3	2	3	1	2	4	4	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15935767G>A	ENST00000268712.3	-	46	7423	c.7166C>T	c.(7165-7167)aCt>aTt	p.T2389I	NCOR1_ENST00000395857.3_Missense_Mutation_p.T973I|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2286I	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2389	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CATCCGCATAGTCAGAGGGTT	0.453													A	15935767	G	A	15935767	3	1	364	1	0	0	0	0	1	0	0	0	10311	1029	36	2	160	2	NCOR1	17	15935767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	292331	15935767	65259443	12145	35647											
NCOR1	9611	broad.mit.edu	37	chr17	15942850	15942850	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccataggctgggacatgacAactccatgatcctcaacttt	11	10	7	13	0	1	2	1	2	0	0	3	3	3	3	3	2	2	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942850A>G	ENST00000268712.3	-	44	7109	c.6852T>C	c.(6850-6852)gtT>gtC	p.V2284V	NCOR1_ENST00000395857.3_Silent_p.V868V|NCOR1_ENST00000395851.1_Silent_p.V2181V	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2284	Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGACATGACAACTCCATGAT	0.502													G	15942850	A	G	15942850	2	3	364	1	0	0	0	0	0	0	0	1	10311	117	5	3		3	NCOR1	17	15942850	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7083	15942850	65252360	12146	35648											
NCOR1	9611	broad.mit.edu	37	chr17	15942969	15942969	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctagagctaactgagcCtgaaagagaatcaaaaacat	17	7	8	9	0	2	4	1	2	1	2	2	5	2	4	2	0	4	1	2	0	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15942969C>A	ENST00000268712.3	-	44	6991		c.e44-1		NCOR1_ENST00000395857.3_Splice_Site|NCOR1_ENST00000395851.1_Splice_Site	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1						cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CTAACTGAGCCTGAAAGAGAA	0.448													A	15942969	C	A	15942969	5	1	364	1	0	0	0	0	0	0	1	0	10311	695	24	4	601	4	NCOR1	17	15942969	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	15942969	65252241	12147	35649											
NCOR1	9611	broad.mit.edu	37	chr17	15973653	15973653	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttaccactgacgtgtgccGggaacgcacggtctcgcctg	6	8	13	14	5	1	1	0	1	1	0	2	2	1	2	3	2	3	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:15973653G>T	ENST00000268712.3	-	31	4596	c.4339C>A	c.(4339-4341)Cgg>Agg	p.R1447R	NCOR1_ENST00000395857.3_Silent_p.R31R|NCOR1_ENST00000395851.1_Silent_p.R1463R	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1447	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GACGTGTGCCGGGAACGCACG	0.532													T	15973653	G	T	15973653	2	4	364	1	0	0	0	0	0	0	0	1	10311	1115	39	4		4	NCOR1	17	15973653	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30684	15973653	65221557	12148	35650											
NCOR1	9611	broad.mit.edu	37	chr17	16021243	16021243	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggttgtcaagattgtgtcGccttttatagttaaaataga	12	15	10	4	1	1	2	1	0	0	2	2	3	1	2	1	1	0	2	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16021243G>A	ENST00000268712.3	-	18	2271	c.2014C>T	c.(2014-2016)Cga>Tga	p.R672*	NCOR1_ENST00000583226.1_5'UTR|NCOR1_ENST00000395848.1_Nonsense_Mutation_p.R563*|NCOR1_ENST00000395851.1_Nonsense_Mutation_p.R672*	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	672	SANT 2.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		AGATTGTGTCGCCTTTTATAG	0.373													A	16021243	G	A	16021243	4	1	364	1	0	0	0	0	0	1	0	0	10311	1095	38	1	5424	1	NCOR1	17	16021243	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47590	16021243	65173967	12149	35651											
NCOR1	9611	broad.mit.edu	37	chr17	16042399	16042399	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatacactttcatagggtcCtccataagcccattcatgtt	10	15	5	11	0	2	0	2	0	0	0	4	0	4	0	3	1	2	1	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16042399C>A	ENST00000268712.3	-	12	1532	c.1275G>T	c.(1273-1275)gaG>gaT	p.E425D	NCOR1_ENST00000395848.1_Missense_Mutation_p.E316D|NCOR1_ENST00000395851.1_Missense_Mutation_p.E425D	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	425					cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TCATAGGGTCCTCCATAAGCC	0.353													A	16042399	C	A	16042399	3	1	364	1	0	0	0	0	1	0	0	0	10311	680	24	4	6187	4	NCOR1	17	16042399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21156	16042399	65152811	12150	35652											
NCOR1	9611	broad.mit.edu	37	chr17	16049780	16049780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctttctttagctttcCtccgaggattattttctatt	5	23	5	8	1	2	0	0	0	2	0	4	2	4	1	2	1	2	2	2	1	3	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16049780C>A	ENST00000268712.3	-	10	1249	c.992G>T	c.(991-993)aGg>aTg	p.R331M	NCOR1_ENST00000395848.1_Missense_Mutation_p.R222M|NCOR1_ENST00000395851.1_Missense_Mutation_p.R331M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	331	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TTTAGCTTTCCTCCGAGGATT	0.383													A	16049780	C	A	16049780	3	1	364	1	0	0	0	0	1	0	0	0	10311	681	24	4	6478	4	NCOR1	17	16049780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7381	16049780	65145430	12151	35653											
NCOR1	9611	broad.mit.edu	37	chr17	16068429	16068429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctccacatggttgccccGaaattggagaggatggagct	10	9	12	10	1	1	1	0	0	1	1	2	5	1	3	3	4	2	2	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16068429G>A	ENST00000268712.3	-	5	739	c.482C>T	c.(481-483)tCg>tTg	p.S161L	NCOR1_ENST00000395848.1_Missense_Mutation_p.S52L|NCOR1_ENST00000395851.1_Missense_Mutation_p.S161L	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	161	Interaction with ZBTB33 and HEXIM1.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		TGGTTGCCCCGAAATTGGAGA	0.388													A	16068429	G	A	16068429	3	1	364	1	0	0	0	0	1	0	0	0	10311	1059	37	1	7008	1	NCOR1	17	16068429	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18649	16068429	65126781	12152	35654											
TRPV2	51393	broad.mit.edu	37	chr17	16335329	16335329	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccccgaagctcctacaggCcccaatgccacagagtcagt	10	5	9	17	2	1	1	1	0	0	1	2	2	2	1	6	1	3	1	6	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16335329C>T	ENST00000338560.7	+	12	2103	c.1704C>T	c.(1702-1704)ggC>ggT	p.G568G	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Silent_p.G138G	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	568					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CTCCTACAGGCCCCAATGCCA	0.647													T	16335329	C	T	16335329	2	4	364	1	0	0	0	0	0	0	0	1	16697	726	26	2		2	TRPV2	17	16335329	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	266900	16335329	64859881	12153	35655											
ZNF287	57336	broad.mit.edu	37	chr17	16455236	16455236	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgtactctgggtgaaGgttttaccacatatacgaca	11	13	10	7	1	1	1	0	1	1	0	1	2	1	1	1	3	3	3	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16455236G>T	ENST00000395824.1	-	6	2837	c.2220C>A	c.(2218-2220)acC>acA	p.T740T	ZNF287_ENST00000395825.3_Silent_p.T740T			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	733					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)		TCTGGGTGAAGGTTTTACCAC	0.388													T	16455236	G	T	16455236	2	4	364	1	0	0	0	0	0	0	0	1	17926	987	35	4		4	ZNF287	17	16455236	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119907	16455236	64739974	12154	35656											
ZNF287	57336	broad.mit.edu	37	chr17	16456237	16456237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaataagggatgagatatGcctaaactctttcccacatt	13	12	7	9	0	1	1	0	1	1	1	2	3	2	2	2	1	3	1	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16456237G>A	ENST00000395824.1	-	6	1836	c.1219C>T	c.(1219-1221)Cat>Tat	p.H407Y	ZNF287_ENST00000395825.3_Missense_Mutation_p.H407Y			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	400					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)		GATGAGATATGCCTAAACTCT	0.433													A	16456237	G	A	16456237	3	1	364	1	0	0	0	0	1	0	0	0	17926	1319	46	2	1070	2	ZNF287	17	16456237	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1001	16456237	64738973	12155	35657											
ZNF624	57547	broad.mit.edu	37	chr17	16526599	16526599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aataattaatgaatgctttcCcacattcattacatttatag	15	16	3	7	0	1	1	1	1	0	0	2	1	2	1	1	0	2	1	1	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:16526599C>T	ENST00000311331.7	-	6	1692	c.1601G>A	c.(1600-1602)gGg>gAg	p.G534E		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GAATGCTTTCCCACATTCATT	0.383													T	16526599	C	T	16526599	3	4	364	1	0	0	0	0	1	0	0	0	18149	623	22	2	1000	2	ZNF624	17	16526599	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70362	16526599	64668611	12156	35658											
MPRIP	23164	broad.mit.edu	37	chr17	17030083	17030083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggtggatggggagggccGcacgggccagaagttctccc	6	7	18	10	2	1	1	0	0	1	1	2	3	1	3	3	6	0	2	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17030083G>A	ENST00000395811.5	+	4	424	c.335G>A	c.(334-336)cGc>cAc	p.R112H	MPRIP_ENST00000395804.3_Missense_Mutation_p.R112H|MPRIP_ENST00000444976.1_Missense_Mutation_p.R112H|MPRIP_ENST00000341712.4_Missense_Mutation_p.R112H	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	112	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding	p.R112H(1)		biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GGGGAGGGCCGCACGGGCCAG	0.597													A	17030083	G	A	17030083	3	1	364	1	0	0	0	0	1	0	0	0	9819	1087	38	1	349	1	MPRIP	17	17030083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	503484	17030083	64165127	12157	35659											
MPRIP	23164	broad.mit.edu	37	chr17	17079821	17079821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgagctgcagacggcaCtgcgggtaaggccaccgcac	10	4	15	12	3	0	2	0	1	0	1	0	3	0	3	2	4	3	5	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17079821C>A	ENST00000395811.5	+	20	2880	c.2791C>A	c.(2791-2793)Ctg>Atg	p.L931M	MPRIP_ENST00000341712.4_Missense_Mutation_p.L931M|MPRIP_ENST00000395804.3_Missense_Mutation_p.L931M|MPRIP_ENST00000444976.1_Missense_Mutation_p.L893M|RP11-45M22.3_ENST00000584203.1_RNA	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	931						cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						GCAGACGGCACTGCGGGTAAG	0.562													A	17079821	C	A	17079821	3	1	364	1	0	0	0	0	1	0	0	0	9819	564	20	4	2869	4	MPRIP	17	17079821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49738	17079821	64115389	12158	35660											
FLCN	201163	broad.mit.edu	37	chr17	17119724	17119724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgtggggggggatctgcaCgtgcgggctgagccccagga	6	5	19	11	3	1	1	0	1	1	0	1	3	1	3	2	6	3	2	2	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17119724C>T	ENST00000285071.4	-	11	1724	c.1270G>A	c.(1270-1272)Gtg>Atg	p.V424M	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	424					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGATCTGCACGTGCGGGCTG	0.672									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				T	17119724	C	T	17119724	3	4	364	1	0	0	0	0	1	0	0	0	5970	536	19	1	485	1	FLCN	17	17119724	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39903	17119724	64075486	12159	35661											
FLCN	201163	broad.mit.edu	37	chr17	17120461	17120461	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggttccccatgagaacgtgCcaggccagcatgcggaaaga	11	6	13	11	2	0	2	0	1	0	2	1	4	1	3	4	3	4	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17120461C>T	ENST00000285071.4	-	10	1552	c.1098G>A	c.(1096-1098)tgG>tgA	p.W366*	RP11-45M22.4_ENST00000427497.3_Missense_Mutation_p.A74T	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	366					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TGAGAACGTGCCAGGCCAGCA	0.512									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				T	17120461	C	T	17120461	4	4	364	1	0	0	0	0	0	1	0	0	5970	740	26	2	661	2	FLCN	17	17120461	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737	17120461	64074749	12160	35662											
FLCN	201163	broad.mit.edu	37	chr17	17124701	17124701	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacaacaatcacaccgAgatcggagggtgagcttccc	13	6	9	13	2	2	2	2	1	0	1	4	4	3	3	2	2	2	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17124701A>G	ENST00000389169.5	-	8	1475	c.1021T>C	c.(1021-1023)Tcg>Ccg	p.S341P	FLCN_ENST00000285071.4_Intron|RP11-45M22.4_ENST00000427497.3_Intron	NM_144606.5	NP_653207.1	Q8NFG4	FLCN_HUMAN	folliculin	0					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						aatcacaCCGAGATCGGAGGG	0.547									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				G	17124701	A	G	17124701	3	3	364	1	0	0	0	0	1	0	0	0	5970	304	11	3	904	3	FLCN	17	17124701	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4240	17124701	64070509	12161	35663											
FLCN	201163	broad.mit.edu	37	chr17	17129551	17129551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagagctgggggtggctgGggtgctggtggctgacgtat	5	10	21	5	1	0	3	0	2	0	1	0	3	0	3	0	7	2	5	0	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17129551G>T	ENST00000285071.4	-	5	789	c.335C>A	c.(334-336)cCc>cAc	p.P112H	RP11-45M22.4_ENST00000427497.3_Intron|FLCN_ENST00000389169.5_Missense_Mutation_p.P112H	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	112					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GGGGTGGCTGGGGTGCTGGTG	0.597									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				T	17129551	G	T	17129551	3	4	364	1	0	0	0	0	1	0	0	0	5970	1232	43	4	1602	4	FLCN	17	17129551	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4850	17129551	64065659	12162	35664											
NT5M	56953	broad.mit.edu	37	chr17	17250164	17250164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtcctcttcaccgcctGccacaaccagcacctgcagc	8	7	7	19	1	2	0	1	0	1	0	3	0	3	0	6	0	5	3	6	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17250164G>A	ENST00000389022.4	+	5	806	c.590G>A	c.(589-591)tGc>tAc	p.C197Y	NT5M_ENST00000582909.1_3'UTR	NM_020201.3	NP_064586.1	Q9NPB1	NT5M_HUMAN	5',3'-nucleotidase, mitochondrial	197					DNA replication|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	5'-nucleotidase activity|metal ion binding|nucleotide binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						TTCACCGCCTGCCACAACCAG	0.682													A	17250164	G	A	17250164	3	1	364	1	0	0	0	0	1	0	0	0	10770	1319	46	2	608	2	NT5M	17	17250164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120613	17250164	63945046	12163	35665											
MED9	55090	broad.mit.edu	37	chr17	17394698	17394698	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgcccggcatccacctgagCcccgaacagcagcagcagca	11	3	10	17	2	0	1	0	1	0	0	1	2	1	1	5	1	7	5	5	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17394698C>T	ENST00000268711.3	+	2	386	c.330C>T	c.(328-330)agC>agT	p.S110S		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	110					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCCACCTGAGCCCCGAACAGC	0.577													T	17394698	C	T	17394698	2	4	364	1	0	0	0	0	0	0	0	1	9529	738	26	2		2	MED9	17	17394698	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144534	17394698	63800512	12164	35666											
RASD1	51655	broad.mit.edu	37	chr17	17398697	17398697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggctcatctcgctgggcagCttggccatggcgaagagcgc	6	7	16	12	3	2	1	1	0	1	1	3	2	2	1	1	4	2	4	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17398697C>T	ENST00000225688.3	-	2	799	c.588G>A	c.(586-588)aaG>aaA	p.K196K	RASD1_ENST00000579152.1_3'UTR	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	196					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CGCTGGGCAGCTTGGCCATGG	0.642													T	17398697	C	T	17398697	2	4	364	1	0	0	0	0	0	0	0	1	13154	796	28	2		2	RASD1	17	17398697	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3999	17398697	63796513	12165	35667											
RASD1	51655	broad.mit.edu	37	chr17	17399332	17399332	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagtcctcgatggtaGgcgtgtaggcgtcctcgaag	7	9	17	8	4	0	0	0	0	0	0	4	3	2	1	2	5	0	2	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17399332G>T	ENST00000225688.3	-	1	375	c.164C>A	c.(163-165)cCt>cAt	p.P55H	RASD1_ENST00000579152.1_Missense_Mutation_p.P55H	NM_001199989.1|NM_016084.4	NP_001186918.1|NP_057168.1	Q9Y272	RASD1_HUMAN	RAS, dexamethasone-induced 1	55					G-protein coupled receptor protein signaling pathway|small GTPase mediated signal transduction	nucleus|perinuclear region of cytoplasm|plasma membrane	GTP binding|GTPase activity			endometrium(1)|lung(2)|upper_aerodigestive_tract(1)	4						CTCGATGGTAGGCGTGTAGGC	0.627													T	17399332	G	T	17399332	3	4	364	1	0	0	0	0	1	0	0	0	13154	1000	35	4	689	4	RASD1	17	17399332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	635	17399332	63795878	12166	35668											
RAI1	10743	broad.mit.edu	37	chr17	17696880	17696880	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctgcccttcccccagggTacccactttcctcagcattc	5	11	5	20	0	2	0	1	0	1	0	5	0	4	0	6	1	3	2	6	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696880T>C	ENST00000353383.1	+	3	1087	c.618T>C	c.(616-618)ggT>ggC	p.G206G	RAI1_ENST00000261641.6_Silent_p.G206G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	206	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCCCCCAGGGTACCCACTTTC	0.632													C	17696880	T	C	17696880	2	2	364	1	0	0	0	0	0	0	0	1	13095	1625	57	3		3	RAI1	17	17696880	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	297548	17696880	63498330	12167	35669											
RAI1	10743	broad.mit.edu	37	chr17	17696960	17696960	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagggtggtgggcagggggCccactcctataagagttgca	8	7	16	10	0	0	1	0	0	0	1	1	1	1	1	3	5	1	3	3	5	2	3	rs34551516		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17696960C>G	ENST00000353383.1	+	3	1167	c.698C>G	c.(697-699)gCc>gGc	p.A233G	RAI1_ENST00000261641.6_Missense_Mutation_p.A233G	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	233	Gln-rich.					cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GGGCAGGGGGCCCACTCCTAT	0.652													G	17696960	C	G	17696960	3	3	364	1	0	0	0	0	1	0	0	0	13095	739	26	4	700	4	RAI1	17	17696960	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80	17696960	63498250	12168	35670											
RAI1	10743	broad.mit.edu	37	chr17	17698006	17698006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacacggcagtctgccgctcGacagcttctccaagttcgtg	7	10	10	14	4	2	0	0	0	2	0	5	1	2	0	2	1	3	4	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17698006G>A	ENST00000353383.1	+	3	2213	c.1744G>A	c.(1744-1746)Gac>Aac	p.D582N	RAI1_ENST00000261641.6_Missense_Mutation_p.D582N	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	582						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		TCTGCCGCTCGACAGCTTCTC	0.637													A	17698006	G	A	17698006	3	1	364	1	0	0	0	0	1	0	0	0	13095	1058	37	1	1746	1	RAI1	17	17698006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1046	17698006	63497204	12169	35671											
RAI1	10743	broad.mit.edu	37	chr17	17700973	17700973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgctgcccctggatcccGcagagcctgaaatccgcctc	7	7	11	16	2	0	2	0	1	0	1	3	3	2	3	6	2	3	2	6	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17700973G>A	ENST00000353383.1	+	3	5180	c.4711G>A	c.(4711-4713)Gca>Aca	p.A1571T	RAI1_ENST00000261641.6_Missense_Mutation_p.A1571T	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	1571						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		CCTGGATCCCGCAGAGCCTGA	0.642													A	17700973	G	A	17700973	3	1	364	1	0	0	0	0	1	0	0	0	13095	1087	38	1	4713	1	RAI1	17	17700973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2967	17700973	63494237	12170	35672											
SREBF1	6720	broad.mit.edu	37	chr17	17722350	17722350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcagtgcccaccaccaGatccttgagctcaatgattt	9	11	7	14	0	2	3	2	2	0	1	3	3	3	3	5	0	3	1	5	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17722350G>T	ENST00000355815.4	-	6	1304	c.1135C>A	c.(1135-1137)Ctg>Atg	p.L379M	SREBF1_ENST00000338854.5_Missense_Mutation_p.L349M|SREBF1_ENST00000261646.5_Missense_Mutation_p.L349M|SREBF1_ENST00000395757.1_Missense_Mutation_p.L95M|SREBF1_ENST00000435530.2_Missense_Mutation_p.L349M	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	349	Interaction with LMNA (By similarity).|Leucine-zipper.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						CCCACCACCAGATCCTTGAGC	0.587													T	17722350	G	T	17722350	3	4	364	1	0	0	0	0	1	0	0	0	15237	933	33	4	2458	4	SREBF1	17	17722350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21377	17722350	63472860	12171	35673											
TOM1L2	146691	broad.mit.edu	37	chr17	17751069	17751069	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccatttcagcagctttGgctctttcttcaaggaattt	9	15	8	9	0	4	0	2	0	2	0	4	2	4	2	1	3	3	3	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17751069G>T	ENST00000581396.1	-	14	1350	c.1254C>A	c.(1252-1254)gcC>gcA	p.A418A	TOM1L2_ENST00000379504.3_Silent_p.A468A|TOM1L2_ENST00000542206.1_Silent_p.A349A|TOM1L2_ENST00000535933.1_Silent_p.A444A|TOM1L2_ENST00000540946.1_Silent_p.A350A|TOM1L2_ENST00000318094.10_Silent_p.A423A|TOM1L2_ENST00000395739.4_Silent_p.A423A|TOM1L2_ENST00000478943.1_Silent_p.A201A	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	468					intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					CAGCAGCTTTGGCTCTTTCTT	0.582													T	17751069	G	T	17751069	2	4	364	1	0	0	0	0	0	0	0	1	16453	1335	47	4		4	TOM1L2	17	17751069	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28719	17751069	63444141	12172	35674											
TOM1L2	146691	broad.mit.edu	37	chr17	17770235	17770235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggccagacctgtatcgttcGaacctaacaggggaagggaa	12	6	13	10	3	0	1	0	0	0	1	2	4	0	3	3	4	2	2	3	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17770235G>A	ENST00000581396.1	-	8	861	c.765C>T	c.(763-765)ttC>ttT	p.F255F	TOM1L2_ENST00000379504.3_Silent_p.F305F|TOM1L2_ENST00000542206.1_Silent_p.F157F|TOM1L2_ENST00000535933.1_Silent_p.F252F|TOM1L2_ENST00000540946.1_Silent_p.F207F|TOM1L2_ENST00000318094.10_Silent_p.F260F|TOM1L2_ENST00000395739.4_Silent_p.F260F|TOM1L2_ENST00000478943.1_Silent_p.F38F|TOM1L2_ENST00000577517.1_5'UTR	NM_001033551.2	NP_001028723.1	Q6ZVM7	TM1L2_HUMAN	target of myb1-like 2 (chicken)	305	GAT.				intracellular protein transport	intracellular				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(2)	10	all_neural(463;0.228)					TGTATCGTTCGAACCTAACAG	0.517													A	17770235	G	A	17770235	2	1	364	1	0	0	0	0	0	0	0	1	16453	1049	37	1		1	TOM1L2	17	17770235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19166	17770235	63424975	12173	35675											
LRRC48	83450	broad.mit.edu	37	chr17	17896109	17896109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggcggttcaagtgcctgCggacgctcagcctctctagg	5	9	13	14	4	3	0	2	0	1	0	5	1	4	1	3	4	3	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:17896109C>T	ENST00000313838.8	+	7	854	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	LRRC48_ENST00000399187.1_Missense_Mutation_p.R159W|LRRC48_ENST00000399182.1_Missense_Mutation_p.R159W|LRRC48_ENST00000411504.2_Missense_Mutation_p.R159W|LRRC48_ENST00000584166.1_Missense_Mutation_p.R159W	NM_001130090.1	NP_001123562.1	Q9H069	LRC48_HUMAN	leucine rich repeat containing 48	159			R -> Q (in dbSNP:rs8072048).			cytoplasm				breast(1)|large_intestine(2)|lung(2)|pancreas(1)|urinary_tract(1)	7	all_neural(463;0.228)					CAAGTGCCTGCGGACGCTCAG	0.542													T	17896109	C	T	17896109	3	4	364	1	0	0	0	0	1	0	0	0	9075	759	27	1	489	1	LRRC48	17	17896109	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125874	17896109	63299101	12174	35676											
MYO15A	51168	broad.mit.edu	37	chr17	18022853	18022853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgacggcgacgactactacGaccggcagtcactccaccgc	9	4	11	17	7	1	0	1	0	0	0	2	4	2	0	3	2	2	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18022853G>A	ENST00000205890.5	+	2	1077	c.739G>A	c.(739-741)Gac>Aac	p.D247N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	247	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGACTACTACGACCGGCAGTC	0.647													A	18022853	G	A	18022853	3	1	364	1	0	0	0	0	1	0	0	0	10139	1058	37	1	741	1	MYO15A	17	18022853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126744	18022853	63172357	12175	35677											
MYO15A	51168	broad.mit.edu	37	chr17	18023071	18023071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacccccatatgcgcccccGtcggggtactcgtctcctta	6	9	9	17	4	1	0	0	0	1	0	4	1	1	0	5	2	3	1	5	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023071G>A	ENST00000205890.5	+	2	1295	c.957G>A	c.(955-957)ccG>ccA	p.P319P		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	319	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					ATGCGCCCCCGTCGGGGTACT	0.607													A	18023071	G	A	18023071	2	1	364	1	0	0	0	0	0	0	0	1	10139	1132	40	1		1	MYO15A	17	18023071	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218	18023071	63172139	12176	35678											
MYO15A	51168	broad.mit.edu	37	chr17	18023596	18023596	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgggaaggagaagctggaGgtgcccctgccaccctctct	7	9	13	12	0	1	1	0	0	1	1	2	4	1	3	4	4	3	1	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18023596G>T	ENST00000205890.5	+	2	1820	c.1482G>T	c.(1480-1482)gaG>gaT	p.E494D		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	494	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGAAGCTGGAGGTGCCCCTGC	0.632													T	18023596	G	T	18023596	3	4	364	1	0	0	0	0	1	0	0	0	10139	991	35	4	1484	4	MYO15A	17	18023596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	525	18023596	63171614	12177	35679											
MYO15A	51168	broad.mit.edu	37	chr17	18060286	18060286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggactctgactacgtggtcGctgtgaggaacttcctgcct	7	11	12	11	2	1	2	0	2	1	0	3	4	2	4	2	3	3	1	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18060286G>A	ENST00000205890.5	+	49	8958	c.8620G>A	c.(8620-8622)Gct>Act	p.A2874T	MYO15A_ENST00000418233.3_Missense_Mutation_p.A138T	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2874	SH3.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTACGTGGTCGCTGTGAGGAA	0.622													A	18060286	G	A	18060286	3	1	364	1	0	0	0	0	1	0	0	0	10139	1087	38	1	8806	1	MYO15A	17	18060286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36690	18060286	63134924	12178	35680											
MYO15A	51168	broad.mit.edu	37	chr17	18077188	18077188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctatgtggagattgcgCtgggggacgtggcggcccag	6	7	17	11	3	0	1	0	0	0	1	0	3	0	2	3	5	1	1	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18077188C>A	ENST00000205890.5	+	65	10782	c.10444C>A	c.(10444-10446)Ctg>Atg	p.L3482M	MYO15A_ENST00000451725.2_Intron|MYO15A_ENST00000418233.3_Missense_Mutation_p.L746M|RP11-258F1.1_ENST00000577847.1_RNA	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3482	FERM.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGAGATTGCGCTGGGGGACGT	0.642													A	18077188	C	A	18077188	3	1	364	1	0	0	0	0	1	0	0	0	10139	796	28	4	10694	4	MYO15A	17	18077188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16902	18077188	63118022	12179	35681											
ALKBH5	54890	broad.mit.edu	37	chr17	18110257	18110257	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacccaagcggtcccaccGcaaggcagaccctgatgctg	11	4	11	15	2	0	2	0	1	0	1	1	3	1	2	4	2	3	3	4	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18110257G>A	ENST00000399138.4	+	3	985	c.980G>A	c.(979-981)cGc>cAc	p.R327H	ALKBH5_ENST00000541285.1_5'UTR	NM_017758.3	NP_060228.3	Q6P6C2	ALKB5_HUMAN	alkB, alkylation repair homolog 5 (E. coli)	327						integral to membrane	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(2)|ovary(1)|skin(1)	10	all_neural(463;0.228)					CGGTCCCACCGCAAGGCAGAC	0.587													A	18110257	G	A	18110257	3	1	364	1	0	0	0	0	1	0	0	0	530	1087	38	1	990	1	ALKBH5	17	18110257	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33069	18110257	63084953	12180	35682											
LLGL1	3996	broad.mit.edu	37	chr17	18140194	18140194	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgatccccggcttggcgtgCagaaggttgctctctgcaag	7	9	13	12	3	1	1	0	0	1	1	3	2	2	1	2	3	3	5	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18140194C>T	ENST00000316843.4	+	13	1648	c.1552C>T	c.(1552-1554)Cag>Tag	p.Q518*		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	518					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GCTTGGCGTGCAGAAGGTTGC	0.612													T	18140194	C	T	18140194	4	4	364	1	0	0	0	0	0	1	0	0	8894	711	25	2	1602	2	LLGL1	17	18140194	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29937	18140194	63055016	12181	35683											
LLGL1	3996	broad.mit.edu	37	chr17	18145559	18145559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccccacagagccttgatGgaagccctgatccagcccac	9	6	10	16	0	0	3	0	2	0	1	1	4	1	4	6	2	3	0	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18145559G>A	ENST00000316843.4	+	20	3058	c.2962G>A	c.(2962-2964)Gga>Aga	p.G988R		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	988					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					GAGCCTTGATGGAAGCCCTGA	0.642													A	18145559	G	A	18145559	3	1	364	1	0	0	0	0	1	0	0	0	8894	1349	47	2	3040	2	LLGL1	17	18145559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5365	18145559	63049651	12182	35684											
FLII	2314	broad.mit.edu	37	chr17	18156617	18156617	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagccctgcccagcacctGcagagactttcagggaccag	9	5	10	17	0	1	1	1	0	0	1	1	3	1	2	5	1	4	2	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18156617G>A	ENST00000327031.4	-	9	1236	c.1011C>T	c.(1009-1011)tgC>tgT	p.C337C	FLII_ENST00000545457.2_Silent_p.C283C|FLII_ENST00000579294.1_Silent_p.C326C|FLII_ENST00000578558.1_Silent_p.C337C|FLII_ENST00000379450.4_Silent_p.C252C	NM_002018.3	NP_002009.1	Q13045	FLII_HUMAN	flightless I homolog (Drosophila)	337	Interaction with LRRFIP1 and LRRFIP2.				multicellular organismal development|muscle contraction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|nucleus	actin binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32	all_neural(463;0.228)					CCCAGCACCTGCAGAGACTTT	0.582													A	18156617	G	A	18156617	2	1	364	1	0	0	0	0	0	0	0	1	5974	1311	46	2		2	FLII	17	18156617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11058	18156617	63038593	12183	35685											
TOP3A	7156	broad.mit.edu	37	chr17	18181375	18181375	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacagcctcctggccacagTtgcaggtcacagaattgctt	9	9	10	13	0	1	1	1	0	0	1	2	1	2	1	3	2	3	4	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18181375T>A	ENST00000321105.5	-	18	2655	c.2441A>T	c.(2440-2442)aAc>aTc	p.N814I	TOP3A_ENST00000542570.1_Missense_Mutation_p.N719I|TOP3A_ENST00000540524.1_Missense_Mutation_p.N344I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	814	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CTGGCCACAGTTGCAGGTCAC	0.612													A	18181375	T	A	18181375	3	1	364	1	0	0	0	0	1	0	0	0	16468	1725	60	5	572	5	TOP3A	17	18181375	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24758	18181375	63013835	12184	35686											
TOP3A	7156	broad.mit.edu	37	chr17	18186034	18186034	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattcttcttggtcttaaGgaccatgtccttgttgcact	6	16	8	11	0	3	0	0	0	3	0	4	1	4	1	3	2	1	2	3	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18186034G>T	ENST00000321105.5	-	16	2213	c.1999C>A	c.(1999-2001)Ctt>Att	p.L667I	TOP3A_ENST00000542570.1_Missense_Mutation_p.L572I|TOP3A_ENST00000540524.1_Missense_Mutation_p.L197I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	667					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						TTGGTCTTAAGGACCATGTCC	0.577													T	18186034	G	T	18186034	3	4	364	1	0	0	0	0	1	0	0	0	16468	1000	35	4	1022	4	TOP3A	17	18186034	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4659	18186034	63009176	12185	35687											
TOP3A	7156	broad.mit.edu	37	chr17	18194249	18194249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcgttcctgagcgatgtcGatctccactgtggtctcctg	6	12	11	12	3	2	1	0	1	2	0	6	3	3	1	3	1	2	1	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18194249G>A	ENST00000321105.5	-	12	1588	c.1374C>T	c.(1372-1374)atC>atT	p.I458I	TOP3A_ENST00000542570.1_Silent_p.I363I|TOP3A_ENST00000540524.1_5'UTR	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	458					DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GAGCGATGTCGATCTCCACTG	0.512													A	18194249	G	A	18194249	2	1	364	1	0	0	0	0	0	0	0	1	16468	1048	37	1		1	TOP3A	17	18194249	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8215	18194249	63000961	12186	35688											
SMCR8	140775	broad.mit.edu	37	chr17	18226218	18226218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagctggtagccagccGccagatgagcttcctaaagc	11	6	13	11	1	0	3	0	1	0	2	1	4	1	4	4	2	5	3	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18226218G>A	ENST00000406438.3	+	2	3128	c.2648G>A	c.(2647-2649)cGc>cAc	p.R883H		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	883										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GTAGCCAGCCGCCAGATGAGC	0.577													A	18226218	G	A	18226218	3	1	364	1	0	0	0	0	1	0	0	0	14886	1087	38	1	2654	1	SMCR8	17	18226218	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31969	18226218	62968992	12187	35689											
SHMT1	6470	broad.mit.edu	37	chr17	18233940	18233940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcccttccaccatctgtgCctttggaacggagatccaca	9	9	8	15	1	1	1	0	0	1	1	3	3	3	2	5	2	3	0	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18233940C>T	ENST00000316694.3	-	10	1234	c.1100G>A	c.(1099-1101)gGc>gAc	p.G367D	SHMT1_ENST00000539052.1_Missense_Mutation_p.G229D|SHMT1_ENST00000352886.6_Missense_Mutation_p.G287D|SHMT1_ENST00000354098.3_Missense_Mutation_p.G328D	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	367					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACCATCTGTGCCTTTGGAACG	0.483													T	18233940	C	T	18233940	3	4	364	1	0	0	0	0	1	0	0	0	14379	739	26	2	363	2	SHMT1	17	18233940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7722	18233940	62961270	12188	35690											
LGALS9C	654346	broad.mit.edu	37	chr17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcactgtcaatggggccGttctcagctgcagtggaacc	9	9	12	11	1	3	1	3	0	1	1	4	2	3	2	2	3	3	3	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000412421.2_Intron	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562													A	18387258	G	A	18387258	3	1	364	1	0	0	0	0	1	0	0	0	8810	1145	40	1	115	1	LGALS9C	17	18387258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	153318	18387258	62807952	12189	35691											
TBC1D28	254272	broad.mit.edu	37	chr17	18539872	18539872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatactcacagggttatatGcagaataggccacgaggatg	14	8	12	7	1	1	1	1	0	0	1	1	4	1	2	1	3	2	2	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18539872G>A	ENST00000345096.4	-	9	1235	c.536C>T	c.(535-537)gCa>gTa	p.A179V	TBC1D28_ENST00000405044.1_Missense_Mutation_p.A179V			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	179	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGGGTTATATGCAGAATAGGC	0.463													A	18539872	G	A	18539872	3	1	364	1	0	0	0	0	1	0	0	0	15714	1319	46	2	100	2	TBC1D28	17	18539872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	152614	18539872	62655338	12190	35692											
ZNF286B	729288	broad.mit.edu	37	chr17	18566190	18566190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cataagatcctttgggaactCtgtcttcagtgataaggaca	12	12	9	8	0	3	2	1	1	2	1	4	4	4	4	1	2	1	0	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18566190C>T	ENST00000545289.1	-	5	879	c.629G>A	c.(628-630)aGa>aAa	p.R210K	ZNF286B_ENST00000285274.5_3'UTR	NM_001145045.1	NP_001138517.1	P0CG31	Z286B_HUMAN	zinc finger protein 286B	210					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(1)	2						TTTGGGAACTCTGTCTTCAGT	0.353													T	18566190	C	T	18566190	3	4	364	1	0	0	0	0	1	0	0	0	17925	913	32	2	943	2	ZNF286B	17	18566190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26318	18566190	62629020	12191	35693											
FBXW10	10517	broad.mit.edu	37	chr17	18653282	18653282	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccagacacctcccctcttgGcccagttctggggtttctgg	4	11	10	16	0	3	1	0	0	3	1	4	1	4	1	5	4	0	2	5	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18653282G>A	ENST00000308799.4	+	3	1137	c.918G>A	c.(916-918)tgG>tgA	p.W306*	FBXW10_ENST00000395667.1_Intron|FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCCCCTCTTGGCCCAGTTCTG	0.532													A	18653282	G	A	18653282	4	1	364	1	0	0	0	0	0	1	0	0	5812	1218	42	2		2	FBXW10	17	18653282	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87092	18653282	62541928	12192	35694											
FBXW10	10517	broad.mit.edu	37	chr17	18681866	18681866	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcacccaaagaaaaagtCttggaaaatccctatgtcac	16	8	6	11	0	3	1	2	0	1	1	4	2	4	2	2	1	0	0	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18681866C>A	ENST00000308799.4	+	12	2660	c.2441C>A	c.(2440-2442)tCt>tAt	p.S814Y	FBXW10_ENST00000395667.1_Missense_Mutation_p.S804Y|FBXW10_ENST00000301938.4_Missense_Mutation_p.S752Y|FBXW10_ENST00000395665.4_Missense_Mutation_p.S805Y			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	805										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						AAGAAAAAGTCTTGGAAAATC	0.448													A	18681866	C	A	18681866	3	1	364	1	0	0	0	0	1	0	0	0	5812	913	32	4	2465	4	FBXW10	17	18681866	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28584	18681866	62513344	12193	35695											
FBXW10	10517	broad.mit.edu	37	chr17	18682533	18682533	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcatggatcaggaagatCaaaggcctgcctattgataa	13	9	11	8	0	2	2	2	1	0	1	2	4	2	4	2	3	2	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18682533C>A	ENST00000308799.4	+	12	3327	c.3108C>A	c.(3106-3108)atC>atA	p.I1036I	FBXW10_ENST00000395667.1_Silent_p.I1026I|FBXW10_ENST00000301938.4_Silent_p.I974I|FBXW10_ENST00000395665.4_Silent_p.I1027I			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	1027										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCAGGAAGATCAAAGGCCTGC	0.463													A	18682533	C	A	18682533	2	1	364	1	0	0	0	0	0	0	0	1	5812	816	29	4		4	FBXW10	17	18682533	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	667	18682533	62512677	12194	35696											
SLC5A10	125206	broad.mit.edu	37	chr17	18863864	18863864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtgccttcccagatcGtcaccttacctgagtacatt	8	12	6	15	1	1	2	1	1	0	1	3	2	2	2	5	0	3	1	5	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18863864G>A	ENST00000317977.6	+	5	755	c.184G>A	c.(184-186)Gtc>Atc	p.V62I	SLC5A10_ENST00000395643.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395645.3_Missense_Mutation_p.V118I|SLC5A10_ENST00000395647.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000417251.2_Missense_Mutation_p.V118I|SLC5A10_ENST00000395642.1_Missense_Mutation_p.V62I	NM_001282417.1	NP_001269346.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	118					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						TTCCCAGATCGTCACCTTACC	0.587											OREG0024231	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18863864	G	A	18863864	3	1	364	1	0	0	0	0	1	0	0	0	14756	1145	40	1	370	1	SLC5A10	17	18863864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181331	18863864	62331346	12195	35697											
FAM83G	644815	broad.mit.edu	37	chr17	18874841	18874841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccatcggtcatggggCgggcattttgggccagtctt	4	11	14	12	2	2	0	1	0	1	0	3	0	2	0	3	5	1	1	3	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18874841C>T	ENST00000388995.6	-	6	2526	c.2303G>A	c.(2302-2304)cGc>cAc	p.R768H	FAM83G_ENST00000585154.2_Missense_Mutation_p.R768H|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R768H|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	768										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTCATGGGGCGGGCATTTTG	0.657													T	18874841	C	T	18874841	3	4	364	1	0	0	0	0	1	0	0	0	5689	768	27	1	172	1	FAM83G	17	18874841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10977	18874841	62320369	12196	35698											
FAM83G	644815	broad.mit.edu	37	chr17	18881653	18881653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atcttgatgcggttcatctgGctgggctgggggttccagat	5	13	15	8	1	3	2	1	1	2	1	4	2	4	2	1	5	1	4	1	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18881653G>A	ENST00000388995.6	-	5	1549	c.1326C>T	c.(1324-1326)agC>agT	p.S442S	FAM83G_ENST00000585154.2_Silent_p.S442S|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395642.1_Intron|FAM83G_ENST00000345041.4_Silent_p.S442S|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	442										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGTTCATCTGGCTGGGCTGGG	0.637													A	18881653	G	A	18881653	2	1	364	1	0	0	0	0	0	0	0	1	5689	1194	42	2		2	FAM83G	17	18881653	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6812	18881653	62313557	12197	35699											
GRAP	10750	broad.mit.edu	37	chr17	18925335	18925335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcgcccgcaggaccggccCcgccaccagtgggggtctgg	5	3	16	17	5	1	0	0	0	1	0	1	1	1	1	6	5	0	1	6	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:18925335C>T	ENST00000573099.1	-	4	492	c.422G>A	c.(421-423)gGg>gAg	p.G141E	GRAP_ENST00000284154.5_Silent_p.R197R|GRAP_ENST00000395635.1_Silent_p.R168R|SLC5A10_ENST00000317977.6_3'UTR			Q13588	GRAP_HUMAN	GRB2-related adaptor protein	0	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					AGGACCGGCCCCGCCACCAGT	0.672													T	18925335	C	T	18925335	3	4	364	1	0	0	0	0	1	0	0	0	6808	610	22	2	66	2	GRAP	17	18925335	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43682	18925335	62269875	12198	35700											
EPN2	22905	broad.mit.edu	37	chr17	19232897	19232897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgagctcttcagtaatCtgaatggtacaattaaagat	13	14	7	7	0	3	3	1	2	2	1	3	3	3	3	1	1	2	3	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19232897C>A	ENST00000314728.5	+	9	1832	c.1348C>A	c.(1348-1350)Ctg>Atg	p.L450M	EPN2_ENST00000347697.2_Missense_Mutation_p.L393M|EPN2_ENST00000395618.3_Missense_Mutation_p.L165M|EPN2_ENST00000395620.2_Missense_Mutation_p.L393M|EPN2_ENST00000571254.1_Missense_Mutation_p.L386M|EPN2_ENST00000575595.1_Missense_Mutation_p.L158M|EPN2_ENST00000395626.1_Missense_Mutation_p.L450M	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	450	6 X 3 AA repeats of [DE]-P-W.				endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					CTTCAGTAATCTGAATGGTAC	0.458													A	19232897	C	A	19232897	3	1	364	1	0	0	0	0	1	0	0	0	5227	912	32	4	1374	4	EPN2	17	19232897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	307562	19232897	61962313	12199	35701											
MAPK7	5598	broad.mit.edu	37	chr17	19283924	19283924	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccttccccttccagctaCgtggtcctggacctgatgga	5	12	9	15	1	0	1	0	1	0	0	4	3	4	3	6	3	2	1	6	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19283924C>T	ENST00000308406.5	+	4	788	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MAPK7_ENST00000395604.3_Silent_p.Y134Y|MAPK7_ENST00000395602.4_Silent_p.Y134Y|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_5'UTR	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	134	Protein kinase.|Required for binding to MAP2K5 (By similarity).				cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CTTCCAGCTACGTGGTCCTGG	0.572													T	19283924	C	T	19283924	2	4	364	1	0	0	0	0	0	0	0	1	9357	547	19	1		1	MAPK7	17	19283924	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51027	19283924	61911286	12200	35702											
MAPK7	5598	broad.mit.edu	37	chr17	19285153	19285153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccggtgacagcccaggagCgccagcgggagcgggaggag	9	1	20	11	4	0	1	0	1	0	0	0	5	0	5	3	5	5	0	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19285153C>T	ENST00000308406.5	+	5	1923	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	MAPK7_ENST00000395604.3_Missense_Mutation_p.R513C|MAPK7_ENST00000395602.4_Missense_Mutation_p.R513C|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000299612.7_Missense_Mutation_p.R374C	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	513	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Nuclear localization signal (By similarity).|Pro-rich.				cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					AGCCcaggagcgccagcggga	0.692													T	19285153	C	T	19285153	3	4	364	1	0	0	0	0	1	0	0	0	9357	768	27	1	1551	1	MAPK7	17	19285153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1229	19285153	61910057	12201	35703											
RNF112	7732	broad.mit.edu	37	chr17	19316255	19316255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctcctggcccaggagaCgtgtcctgtgagggcggagc	5	9	15	12	2	2	2	0	1	2	1	4	4	3	3	3	4	1	0	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19316255C>T	ENST00000461366.1	+	4	601	c.386C>T	c.(385-387)aCg>aTg	p.T129M	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_Intron	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	129							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						GCCCAGGAGACGTGTCCTGTG	0.617													T	19316255	C	T	19316255	3	4	364	1	0	0	0	0	1	0	0	0	13517	536	19	1	110	1	RNF112	17	19316255	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31102	19316255	61878955	12202	35704											
SLC47A1	55244	broad.mit.edu	37	chr17	19480755	19480755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaacatccacaggacggCgctaaattgtccaggaaaca	14	5	10	12	3	0	0	0	0	0	0	2	3	2	3	3	4	2	1	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19480755C>T	ENST00000270570.4	+	17	1688	c.1602C>T	c.(1600-1602)ggC>ggT	p.G534G	SLC47A1_ENST00000571335.1_Silent_p.G280G|RP11-1113L8.1_ENST00000574267.1_RNA|SLC47A1_ENST00000395585.1_Silent_p.G534G|SLC47A1_ENST00000436810.2_3'UTR|SLC47A1_ENST00000457293.1_Silent_p.G534G|SLC47A1_ENST00000575023.1_Silent_p.G232G	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	534						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					CACAGGACGGCGCTAAATTGT	0.507													T	19480755	C	T	19480755	2	4	364	1	0	0	0	0	0	0	0	1	14741	755	27	1		1	SLC47A1	17	19480755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164500	19480755	61714455	12203	35705											
SLC47A2	146802	broad.mit.edu	37	chr17	19610012	19610012	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactcaacacagatcatgaGcatgctggggacagccaggg	12	5	12	12	0	2	2	2	1	0	1	2	3	2	3	2	3	4	2	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19610012G>T	ENST00000350657.5	-	9	964	c.790C>A	c.(790-792)Ctc>Atc	p.L264I	SLC47A2_ENST00000463318.1_5'UTR|SLC47A2_ENST00000325411.5_Missense_Mutation_p.L300I	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	300						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					CAGATCATGAGCATGCTGGGG	0.627													T	19610012	G	T	19610012	3	4	364	1	0	0	0	0	1	0	0	0	14742	971	34	4	946	4	SLC47A2	17	19610012	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129257	19610012	61585198	12204	35706											
ALDH3A1	218	broad.mit.edu	37	chr17	19645413	19645413	+	Missense_Mutation	SNP	G	G	A																															tcaggtgcttggcagcagccGtcatgatgatcttccccacc																								rs139173953	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645413G>A	ENST00000457500.2	-	4	922	c.593C>T	c.(592-594)aCg>aTg	p.T198M	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.T125M|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.T198M|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.T198M|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.T198M	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	198					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCAGCAGCCGTCATGATGAT	0.607													A	19645413	G	A	19645413	3	1	364	1	0	0	0	0	1	0	0	0	497	1145	40	1	796	1	ALDH3A1	17	19645413	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35401	19645413	61549797	12205	35707	103	2									
ALDH3A1	218	broad.mit.edu	37	chr17	19645423	19645423	+	Missense_Mutation	SNP	T	T	C																															ggcagcagccgtcatgatgaTcttccccacccccgtgctgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19645423T>C	ENST00000457500.2	-	4	912	c.583A>G	c.(583-585)Atc>Gtc	p.I195V	ALDH3A1_ENST00000494157.2_Missense_Mutation_p.I122V|ALDH3A1_ENST00000395555.3_Missense_Mutation_p.I195V|ALDH3A1_ENST00000444455.1_Missense_Mutation_p.I195V|ALDH3A1_ENST00000225740.6_Missense_Mutation_p.I195V	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	195					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GTCATGATGATCTTCCCCACC	0.597													C	19645423	T	C	19645423	3	2	364	1	0	0	0	0	1	0	0	0	497	1435	50	3	806	3	ALDH3A1	17	19645423	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10	19645423	61549787	12206	35708	103	2									
ULK2	9706	broad.mit.edu	37	chr17	19679690	19679690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcggtgctatggcagagcGccgacagtcttctctcaata	8	11	11	11	3	3	1	1	0	2	1	4	2	3	1	1	2	3	2	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19679690G>A	ENST00000395544.4	-	27	3582	c.3083C>T	c.(3082-3084)gCg>gTg	p.A1028V	ULK2_ENST00000361658.2_Missense_Mutation_p.A1028V	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	1028					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					ATGGCAGAGCGCCGACAGTCT	0.428													A	19679690	G	A	19679690	3	1	364	1	0	0	0	0	1	0	0	0	17078	1087	38	1	31	1	ULK2	17	19679690	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34267	19679690	61515520	12207	35709											
ULK2	9706	broad.mit.edu	37	chr17	19708066	19708066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtaagattctgctctatgCgctgataattccttatttga	10	17	7	7	1	2	3	0	2	2	1	3	3	3	3	1	0	2	3	1	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19708066C>T	ENST00000395544.4	-	15	1734	c.1235G>A	c.(1234-1236)cGc>cAc	p.R412H	ULK2_ENST00000361658.2_Missense_Mutation_p.R412H|ULK2_ENST00000580130.1_5'UTR	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	412					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					CTGCTCTATGCGCTGATAATT	0.403													T	19708066	C	T	19708066	3	4	364	1	0	0	0	0	1	0	0	0	17078	768	27	1	1927	1	ULK2	17	19708066	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28376	19708066	61487144	12208	35710											
ULK2	9706	broad.mit.edu	37	chr17	19729453	19729453	+	Splice_Site	DEL	T	T	-																															acaaaaaatggatactcacaTttttttactggaccttgctc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19729453delT	ENST00000395544.4	-	11	1333	c.834delA	c.(832-834)aaa>aa	p.K278fs	ULK2_ENST00000361658.2_Splice_Site_p.K278fs|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	278					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity	p.K278fs*130(1)		large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GATACTCACATTTTTTTACTG	0.294													-	19729453	T	-	19729453	8	5	364	1	0	1	0	1	0	0	1	0	17078	1507	52	0	2344	0	ULK2	17	19729453	Splice_Site	DEL	T	TCGA-DU-6392-01A-11D-1705-08	21387	19729453	61465757	12209	35711											
ULK2	9706	broad.mit.edu	37	chr17	19750088	19750088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgacacttgattttctgCgattggcataggacagcaag	11	11	10	9	1	1	2	0	2	1	0	1	4	1	3	0	2	2	2	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:19750088C>T	ENST00000395544.4	-	6	930	c.431G>A	c.(430-432)cGc>cAc	p.R144H	ULK2_ENST00000361658.2_Missense_Mutation_p.R144H	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	144	Protein kinase.				signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					TGATTTTCTGCGATTGGCATA	0.403													T	19750088	C	T	19750088	3	4	364	1	0	0	0	0	1	0	0	0	17078	768	27	1	2767	1	ULK2	17	19750088	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20635	19750088	61445122	12210	35712											
CCDC144NL	339184	broad.mit.edu	37	chr17	20799212	20799212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggaccactggtcccccGggtagtccaagtaccactgg	9	6	11	15	1	0	0	0	0	0	0	2	1	2	1	6	4	1	2	6	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20799212G>A	ENST00000327925.5	-	1	241	c.122C>T	c.(121-123)cCg>cTg	p.P41L	RP11-344E13.3_ENST00000439794.2_RNA|RP11-344E13.3_ENST00000577537.1_RNA|RP11-344E13.3_ENST00000583962.1_RNA|RP11-344E13.3_ENST00000582324.1_RNA|RP11-344E13.3_ENST00000577860.1_RNA|RP11-344E13.3_ENST00000417232.2_RNA	NM_001004306.1	NP_001004306.1	Q6NUI1	C144L_HUMAN	coiled-coil domain containing 144 family, N-terminal like	41										large_intestine(3)|lung(3)|skin(1)	7						CTGGTCCCCCGGGTAGTCCAA	0.647													A	20799212	G	A	20799212	3	1	364	1	0	0	0	0	1	0	0	0	2805	1116	39	1	559	1	CCDC144NL	17	20799212	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1049124	20799212	60395998	12211	35713											
USP22	23326	broad.mit.edu	37	chr17	20922431	20922431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtgatctttctccttttCgggttgtgcttcagcagttc	4	17	11	9	1	3	1	1	1	2	0	6	2	3	1	1	2	2	4	1	2	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:20922431C>T	ENST00000261497.4	-	4	689	c.486G>A	c.(484-486)ccG>ccA	p.P162P	USP22_ENST00000537526.2_Silent_p.P150P|USP22_ENST00000455117.2_Intron	NM_015276.1	NP_056091.1	Q9UPT9	UBP22_HUMAN	ubiquitin specific peptidase 22	162					cell cycle|embryo development|histone deubiquitination|histone H4 acetylation|histone ubiquitination|positive regulation of mitotic cell cycle|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	SAGA complex	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)	15						TTCTCCTTTTCGGGTTGTGCT	0.473													T	20922431	C	T	20922431	2	4	364	1	0	0	0	0	0	0	0	1	17156	871	31	1		1	USP22	17	20922431	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123219	20922431	60272779	12212	35714											
MAP2K3	5606	broad.mit.edu	37	chr17	21201737	21201737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattctaggaaaatccaagaGgaagaaggatctacggatat	17	8	10	6	1	2	2	0	0	2	2	3	6	3	6	1	4	1	0	1	4	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21201737G>A	ENST00000342679.4	+	2	311	c.62G>A	c.(61-63)aGg>aAg	p.R21K	MAP2K3_ENST00000316920.6_5'UTR|MAP2K3_ENST00000361818.5_5'UTR	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	21					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		AAATCCAAGAGGAAGAAGGAT	0.572													A	21201737	G	A	21201737	3	1	364	1	0	0	0	0	1	0	0	0	9313	1000	35	2	68	2	MAP2K3	17	21201737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	279306	21201737	59993473	12213	35715											
MAP2K3	5606	broad.mit.edu	37	chr17	21205482	21205482	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatctgcatggagctcAtggacacatccttggacaag	10	10	12	9	0	2	0	1	0	1	0	3	4	3	4	1	4	2	2	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21205482A>G	ENST00000342679.4	+	6	676	c.427A>G	c.(427-429)Atg>Gtg	p.M143V	MAP2K3_ENST00000316920.6_Missense_Mutation_p.M114V|MAP2K3_ENST00000361818.5_Missense_Mutation_p.M114V	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	143	Protein kinase.				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		CATGGAGCTCATGGACACATC	0.577													G	21205482	A	G	21205482	3	3	364	1	0	0	0	0	1	0	0	0	9313	217	8	3	449	3	MAP2K3	17	21205482	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3745	21205482	59989728	12214	35716											
KCNJ12	3768	broad.mit.edu	37	chr17	21319618	21319618	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctggccaatgagatcCtgtggggtcaccgctttgag	7	10	12	12	1	1	2	1	2	0	1	2	3	2	2	5	3	1	1	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:21319618C>A	ENST00000583088.1	+	3	1859	c.964C>A	c.(964-966)Ctg>Atg	p.L322M	KCNJ12_ENST00000331718.5_Missense_Mutation_p.L322M	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.L322L(1)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAATGAGATCCTGTGGGGTCA	0.582										Prostate(3;0.18)			A	21319618	C	A	21319618	3	1	364	1	0	0	0	0	1	0	0	0	8104	680	24	4	966	4	KCNJ12	17	21319618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114136	21319618	59875592	12215	35717											
WSB1	26118	broad.mit.edu	37	chr17	25639315	25639315	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttatgtcgcatgtcaatcCgaagagtgatgcccacccaa	12	10	8	11	2	1	2	1	1	0	1	3	3	2	2	3	0	1	1	3	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25639315C>T	ENST00000262394.2	+	9	1502	c.1186C>T	c.(1186-1188)Cga>Tga	p.R396*	WSB1_ENST00000348811.2_Nonsense_Mutation_p.R250*	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	396	SOCS box.				intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATGTCAATCCGAAGAGTGAT	0.473													T	25639315	C	T	25639315	4	4	364	1	0	0	0	0	0	1	0	0	17506	644	23	1	1220	1	WSB1	17	25639315	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4319697	25639315	55555895	12216	35718											
KSR1	8844	broad.mit.edu	37	chr17	25909752	25909752	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccttccacggacaccCtctcagcagccagcctgccc	7	5	9	20	1	1	0	1	0	1	0	3	1	2	1	6	2	4	1	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:25909752C>A	ENST00000398988.3	+	5	635	c.190C>A	c.(190-192)Ctc>Atc	p.L64I	KSR1_ENST00000509603.2_Missense_Mutation_p.L201I|KSR1_ENST00000268763.6_Missense_Mutation_p.L64I|KSR1_ENST00000319524.6_Missense_Mutation_p.L201I	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	199					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CACGGACACCCTCTCAGCAGC	0.667													A	25909752	C	A	25909752	3	1	364	1	0	0	0	0	1	0	0	0	8640	681	24	4	196	4	KSR1	17	25909752	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270437	25909752	55285458	12217	35719											
NOS2	4843	broad.mit.edu	37	chr17	26087105	26087105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgcaccgcatgcagcAcccccttctgggccatctcc	5	9	9	18	1	2	0	0	0	2	0	3	0	2	0	5	1	3	4	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26087105A>G	ENST00000313735.6	-	25	3343	c.3110T>C	c.(3109-3111)gTg>gCg	p.V1037A		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1037					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CGCATGCAGCACCCCCTTCTG	0.602											OREG0024268	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	26087105	A	G	26087105	3	3	364	1	0	0	0	0	1	0	0	0	10619	159	6	3	363	3	NOS2	17	26087105	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	177353	26087105	55108105	12218	35720											
NOS2	4843	broad.mit.edu	37	chr17	26110133	26110133	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttcctctatttttgccCtgggggacaggaagacagca	9	11	12	9	0	1	1	0	0	1	1	2	4	2	3	2	3	2	2	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26110133C>A	ENST00000313735.6	-	6	701		c.e6-1			NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible						arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TATTTTTGCCCTGGGGGACAG	0.483													A	26110133	C	A	26110133	5	1	364	1	0	0	0	0	0	0	1	0	10619	695	24	4	3082	4	NOS2	17	26110133	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23028	26110133	55085077	12219	35721											
NLK	51701	broad.mit.edu	37	chr17	26518101	26518101	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctacctagatgaagggCgactacgatatcacacatgt	13	8	8	12	2	1	2	1	1	0	1	1	4	1	2	3	1	2	0	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26518101C>T	ENST00000407008.3	+	9	2009	c.1291C>T	c.(1291-1293)Cga>Tga	p.R431*		NM_016231.4	NP_057315.3	Q9UBE8	NLK_HUMAN	nemo-like kinase	431					intracellular protein kinase cascade|negative regulation of Wnt receptor signaling pathway|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|serine phosphorylation of STAT3 protein|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway|Wnt receptor signaling pathway	cytoplasm|nucleus	ATP binding|magnesium ion binding|MAP kinase activity|SH2 domain binding|transcription factor binding|ubiquitin protein ligase binding	p.R431*(1)|p.R419*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(1)	14	all_lung(13;0.000343)|Lung NSC(42;0.00184)			UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		AGATGAAGGGCGACTACGATA	0.423													T	26518101	C	T	26518101	4	4	364	1	0	0	0	0	0	1	0	0	10542	760	27	1	1325	1	NLK	17	26518101	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	407968	26518101	54677109	12220	35722											
TMEM97	27346	broad.mit.edu	37	chr17	26653718	26653718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatgaacggttaacccttGtgtctgtctatgccccctac	7	13	8	13	1	2	1	0	1	2	0	2	1	2	1	3	1	5	2	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26653718G>A	ENST00000226230.6	+	3	575	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	TMEM97_ENST00000583381.1_Missense_Mutation_p.V37M|TMEM97_ENST00000336687.6_Missense_Mutation_p.V37M	NM_014573.2	NP_055388.2	Q5BJF2	TMM97_HUMAN	transmembrane protein 97	144					cholesterol homeostasis|regulation of cell growth	integral to membrane|lysosome|nuclear membrane|plasma membrane|rough endoplasmic reticulum	protein binding			endometrium(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	6	all_lung(13;0.000238)|Lung NSC(42;0.000789)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		GTTAACCCTTGTGTCTGTCTA	0.403													A	26653718	G	A	26653718	3	1	364	1	0	0	0	0	1	0	0	0	16324	1377	48	2	440	2	TMEM97	17	26653718	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135617	26653718	54541492	12221	35723											
TNFAIP1	7126	broad.mit.edu	37	chr17	26666704	26666704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacccgccacgacaccatgCtcaaggccatgttcagtggg	9	7	11	14	2	2	1	2	1	0	0	2	2	2	1	4	2	1	2	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26666704C>T	ENST00000226225.2	+	2	424	c.157C>T	c.(157-159)Ctc>Ttc	p.L53F	TNFAIP1_ENST00000544907.2_Intron|TNFAIP1_ENST00000583213.1_Intron	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	53	BTB.				apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		CGACACCATGCTCAAGGCCAT	0.627													T	26666704	C	T	26666704	3	4	364	1	0	0	0	0	1	0	0	0	16372	797	28	2	159	2	TNFAIP1	17	26666704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12986	26666704	54528506	12222	35724											
TNFAIP1	7126	broad.mit.edu	37	chr17	26668285	26668285	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaggactcctaccagcCtgtgtgcaacatccccatca	12	7	7	15	0	1	1	1	0	0	1	3	2	3	2	5	1	4	1	5	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26668285C>A	ENST00000226225.2	+	4	665	c.398C>A	c.(397-399)cCt>cAt	p.P133H	TNFAIP1_ENST00000544907.2_Missense_Mutation_p.P29H|TNFAIP1_ENST00000583213.1_3'UTR	NM_021137.4	NP_066960.1	Q13829	BACD2_HUMAN	tumor necrosis factor, alpha-induced protein 1 (endothelial)	133					apoptosis|cell migration|DNA replication|embryo development|immune response|negative regulation of Rho protein signal transduction|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|stress fiber assembly	Cul3-RING ubiquitin ligase complex|endosome|nucleus|voltage-gated potassium channel complex	GTP-Rho binding|voltage-gated potassium channel activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)	12	all_lung(13;0.000294)|Lung NSC(42;0.000964)			UCEC - Uterine corpus endometrioid carcinoma (53;0.153)		TCCTACCAGCCTGTGTGCAAC	0.567													A	26668285	C	A	26668285	3	1	364	1	0	0	0	0	1	0	0	0	16372	681	24	4	408	4	TNFAIP1	17	26668285	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1581	26668285	54526925	12223	35725											
SARM1	23098	broad.mit.edu	37	chr17	26715466	26715466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaactcatccagagtGtcatgggtgcccgcaacttt	11	9	10	11	1	2	1	2	0	0	1	3	2	3	2	2	2	3	1	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26715466G>A	ENST00000457710.3	+	7	2200	c.1729G>A	c.(1729-1731)Gtc>Atc	p.V577I	SARM1_ENST00000379061.4_3'UTR	NM_015077.2	NP_055892.2	Q6SZW1	SARM1_HUMAN	sterile alpha and TIR motif containing 1	611	TIR.				innate immune response	cytoplasm|intrinsic to membrane	binding|transmembrane receptor activity			cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12	all_lung(13;0.000533)|Lung NSC(42;0.00171)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		CATCCAGAGTGTCATGGGTGC	0.527													A	26715466	G	A	26715466	3	1	364	1	0	0	0	0	1	0	0	0	13934	1377	48	2	1855	2	SARM1	17	26715466	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47181	26715466	54479744	12224	35726											
SLC13A2	9058	broad.mit.edu	37	chr17	26817589	26817589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccgtgtcctcctcatcGttggggtgcggcctgccccg	1	10	12	18	4	1	0	1	0	0	0	5	0	4	0	7	3	2	1	7	3	0	1	rs11568463		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26817589G>A	ENST00000444914.3	+	3	916	c.496G>A	c.(496-498)Gtt>Att	p.V166I	SLC13A2_ENST00000537681.1_Missense_Mutation_p.V46I|SLC13A2_ENST00000545060.1_Missense_Mutation_p.V74I|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V117I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	117						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CCTCCTCATCGTTGGGGTGCG	0.607													A	26817589	G	A	26817589	3	1	364	1	0	0	0	0	1	0	0	0	14486	1145	40	1	506	1	SLC13A2	17	26817589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102123	26817589	54377621	12225	35727											
SLC13A2	9058	broad.mit.edu	37	chr17	26818459	26818459	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcccttgttcccagataaTgggcaggccctccctgtcac	6	11	8	16	0	2	1	1	0	1	1	5	1	4	1	4	2	0	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26818459T>C	ENST00000444914.3	+	5	1146	c.726T>C	c.(724-726)aaT>aaC	p.N242N	SLC13A2_ENST00000537681.1_Silent_p.N122N|SLC13A2_ENST00000545060.1_Silent_p.N150N|SLC13A2_ENST00000314669.5_Silent_p.N193N	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	193						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	TCCCAGATAATGGGCAGGCCC	0.642													C	26818459	T	C	26818459	2	2	364	1	0	0	0	0	0	0	0	1	14486	1461	51	3		3	SLC13A2	17	26818459	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	870	26818459	54376751	12226	35728											
SLC13A2	9058	broad.mit.edu	37	chr17	26820593	26820593	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctctgcctgcagcttcCggaagaactttggcattggg	6	11	12	12	1	1	1	0	0	1	1	3	2	3	2	3	3	4	3	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820593C>T	ENST00000444914.3	+	7	1450	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	SLC13A2_ENST00000537681.1_Missense_Mutation_p.R224W|SLC13A2_ENST00000545060.1_Missense_Mutation_p.R252W|SLC13A2_ENST00000314669.5_Missense_Mutation_p.R295W	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	295						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CTGCAGCTTCCGGAAGAACTT	0.622													T	26820593	C	T	26820593	3	4	364	1	0	0	0	0	1	0	0	0	14486	643	23	1	1056	1	SLC13A2	17	26820593	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2134	26820593	54374617	12227	35729											
SLC13A2	9058	broad.mit.edu	37	chr17	26820649	26820649	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagcaggcagcctactgCgtcatccagaccgagcacag	12	4	10	15	2	1	1	1	0	0	1	2	2	2	1	3	1	6	3	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26820649C>T	ENST00000444914.3	+	7	1506	c.1086C>T	c.(1084-1086)tgC>tgT	p.C362C	SLC13A2_ENST00000537681.1_Silent_p.C242C|SLC13A2_ENST00000545060.1_Silent_p.C270C|SLC13A2_ENST00000314669.5_Silent_p.C313C	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	313						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCCTACTGCGTCATCCAGA	0.607													T	26820649	C	T	26820649	2	4	364	1	0	0	0	0	0	0	0	1	14486	776	27	1		1	SLC13A2	17	26820649	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56	26820649	54374561	12228	35730											
FOXN1	8456	broad.mit.edu	37	chr17	26861379	26861379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctggaagaattctgtcCggcacaacctatccctcaac	11	9	8	13	1	2	1	1	0	1	1	4	2	4	2	3	3	2	2	3	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26861379C>T	ENST00000226247.2	+	6	987	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	FOXN1_ENST00000579795.1_Missense_Mutation_p.R320W	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	320					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					GAATTCTGTCCGGCACAACCT	0.572													T	26861379	C	T	26861379	3	4	364	1	0	0	0	0	1	0	0	0	6070	643	23	1	980	1	FOXN1	17	26861379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40730	26861379	54333831	12229	35731											
UNC119	9094	broad.mit.edu	37	chr17	26874428	26874428	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggatcatctcgctgaCtgcaagagaggcccagccag	9	6	14	12	2	2	2	1	1	1	1	3	4	2	3	2	3	2	2	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26874428C>T	ENST00000484980.1	-	4	3487		c.e4-1		UNC119_ENST00000470125.1_3'UTR|UNC119_ENST00000335765.4_Splice_Site|UNC119_ENST00000301032.4_3'UTR			Q13432	U119A_HUMAN	unc-119 homolog (C. elegans)						phototransduction|synaptic transmission|visual perception	cytosol|soluble fraction				breast(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	7	Lung NSC(42;0.00431)					ATCTCGCTGACTGCAAGAGAG	0.582													T	26874428	C	T	26874428	5	4	364	1	0	0	0	0	0	0	1	0	17084	579	20	2	116	2	UNC119	17	26874428	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13049	26874428	54320782	12230	35732											
PIGS	94005	broad.mit.edu	37	chr17	26887149	26887149	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggacagccccctcaatgTcccagtagacatcatgggac	10	6	10	15	1	2	1	2	0	0	1	3	3	3	3	4	2	1	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26887149T>C	ENST00000308360.7	-	7	1112	c.737A>G	c.(736-738)gAc>gGc	p.D246G	PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.D185G|PIGS_ENST00000395346.2_Missense_Mutation_p.D238G	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	246					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCCTCAATGTCCCAGTAGAC	0.552													C	26887149	T	C	26887149	3	2	364	1	0	0	0	0	1	0	0	0	11975	1667	58	3	954	3	PIGS	17	26887149	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12721	26887149	54308061	12231	35733											
SPAG5	10615	broad.mit.edu	37	chr17	26919576	26919576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggtactaagtcctcaCgcacagcctcagttctactg	11	9	8	13	1	3	1	2	0	1	1	4	1	4	1	2	1	3	3	2	1	4	4	rs141766452	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919576C>T	ENST00000321765.5	-	3	1018	c.686G>A	c.(685-687)cGt>cAt	p.R229H		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	229					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TAAGTCCTCACGCACAGCCTC	0.493													T	26919576	C	T	26919576	3	4	364	1	0	0	0	0	1	0	0	0	15077	536	19	1	2983	1	SPAG5	17	26919576	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32427	26919576	54275634	12232	35734											
SPAG5	10615	broad.mit.edu	37	chr17	26919664	26919664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagactcctctaagagatGggacggagattcctgaaaga	13	8	13	7	1	1	5	0	1	1	4	3	9	3	6	2	3	0	0	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26919664G>T	ENST00000321765.5	-	3	930	c.598C>A	c.(598-600)Cat>Aat	p.H200N		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	200					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					TCTAAGAGATGGGACGGAGAT	0.498													T	26919664	G	T	26919664	3	4	364	1	0	0	0	0	1	0	0	0	15077	1348	47	4	3071	4	SPAG5	17	26919664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88	26919664	54275546	12233	35735											
KIAA0100	9703	broad.mit.edu	37	chr17	26961728	26961728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtaagcagtgcccggcgCatgggtgtgttgccatagag	9	8	15	9	2	0	1	0	0	0	1	0	1	0	1	2	2	3	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26961728C>T	ENST00000528896.2	-	16	2951	c.2877G>A	c.(2875-2877)atG>atA	p.M959I	KIAA0100_ENST00000544884.1_Missense_Mutation_p.M816I|RP11-192H23.7_ENST00000577814.1_RNA|RP11-192H23.7_ENST00000583787.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.M816I	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	959						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					GTGCCCGGCGCATGGGTGTGT	0.527													T	26961728	C	T	26961728	3	4	364	1	0	0	0	0	1	0	0	0	8212	710	25	2	3926	2	KIAA0100	17	26961728	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42064	26961728	54233482	12234	35736											
KIAA0100	9703	broad.mit.edu	37	chr17	26962484	26962484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagaagtagttcctgaagtCtctagtgcaagggatggtac	11	11	12	7	0	2	2	1	1	1	1	4	3	3	3	1	2	2	4	1	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:26962484C>T	ENST00000528896.2	-	16	2195	c.2121G>A	c.(2119-2121)gaG>gaA	p.E707E	KIAA0100_ENST00000544884.1_Silent_p.E564E|RP11-192H23.7_ENST00000577814.1_RNA|KIAA0100_ENST00000389003.3_Silent_p.E564E	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	707						extracellular region				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTCCTGAAGTCTCTAGTGCAA	0.537													T	26962484	C	T	26962484	2	4	364	1	0	0	0	0	0	0	0	1	8212	912	32	2		2	KIAA0100	17	26962484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	756	26962484	54232726	12235	35737											
SUPT6H	6830	broad.mit.edu	37	chr17	27002475	27002475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgaaaaaacctaagtggCggaaaaagcttcctggatac	15	8	9	9	1	1	1	0	1	1	0	2	3	2	3	2	3	3	1	2	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27002475C>T	ENST00000314616.6	+	6	878	c.595C>T	c.(595-597)Cgg>Tgg	p.R199W	SUPT6H_ENST00000347486.4_Missense_Mutation_p.R199W	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	199	Asp/Glu-rich.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					ACCTAAGTGGCGGAAAAAGCT	0.517													T	27002475	C	T	27002475	3	4	364	1	0	0	0	0	1	0	0	0	15496	759	27	1	613	1	SUPT6H	17	27002475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39991	27002475	54192735	12236	35738											
SUPT6H	6830	broad.mit.edu	37	chr17	27010091	27010091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccaagttaaatataacccCcaccaagaaaggtagaaagg	19	5	8	9	0	0	2	0	0	0	2	0	2	0	2	4	2	2	2	4	2	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27010091C>T	ENST00000314616.6	+	15	2142	c.1859C>T	c.(1858-1860)cCc>cTc	p.P620L	SUPT6H_ENST00000347486.4_Missense_Mutation_p.P620L	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	620					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					AATATAACCCCCACCAAGAAA	0.532													T	27010091	C	T	27010091	3	4	364	1	0	0	0	0	1	0	0	0	15496	623	22	2	1913	2	SUPT6H	17	27010091	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7616	27010091	54185119	12237	35739											
SUPT6H	6830	broad.mit.edu	37	chr17	27014145	27014145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagtgctgagacaggccGtctccctggcccggcgcatc	5	7	12	17	3	1	1	0	1	1	1	4	2	2	1	4	3	1	2	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27014145G>A	ENST00000314616.6	+	22	3023	c.2740G>A	c.(2740-2742)Gtc>Atc	p.V914I	SUPT6H_ENST00000347486.4_Missense_Mutation_p.V914I	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	914					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GAGACAGGCCGTCTCCCTGGC	0.542													A	27014145	G	A	27014145	3	1	364	1	0	0	0	0	1	0	0	0	15496	1145	40	1	2822	1	SUPT6H	17	27014145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4054	27014145	54181065	12238	35740											
SUPT6H	6830	broad.mit.edu	37	chr17	27020846	27020846	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtaaagcggccagaagaaCgagtgaaggtagaggactga	15	5	16	5	2	0	5	0	2	0	3	0	7	0	6	1	4	2	2	1	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27020846C>T	ENST00000314616.6	+	28	4049	c.3766C>T	c.(3766-3768)Cga>Tga	p.R1256*	SUPT6H_ENST00000347486.4_Nonsense_Mutation_p.R1256*	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1256	S1 motif.				chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GCCAGAAGAACGAGTGAAGGT	0.512													T	27020846	C	T	27020846	4	4	364	1	0	0	0	0	0	1	0	0	15496	528	19	1	3872	1	SUPT6H	17	27020846	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6701	27020846	54174364	12239	35741											
SUPT6H	6830	broad.mit.edu	37	chr17	27027530	27027530	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagcagtgcttaccaCgtatgtggcttggggaggaa	8	8	17	8	2	0	0	0	0	0	0	0	2	0	2	1	6	3	5	1	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27027530C>T	ENST00000314616.6	+	35	5089	c.4806C>T	c.(4804-4806)caC>caT	p.H1602H	SUPT6H_ENST00000347486.4_Splice_Site_p.H1602H	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1602					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					GTGCTTACCACGTATGTGGCT	0.642													T	27027530	C	T	27027530	5	4	364	1	0	0	0	0	0	0	1	0	15496	550	19	1	4940	1	SUPT6H	17	27027530	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6684	27027530	54167680	12240	35742											
PROCA1	147011	broad.mit.edu	37	chr17	27030736	27030737	+	Frame_Shift_Ins	INS	-	-	T																															ggacagttctccctgcccccINSggccattgtaactgtcctcg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27030736_27030737insT	ENST00000301039.2	-	4	1043_1044	c.850_851insA	c.(850-852)cggfs	p.R284fs	PROCA1_ENST00000439862.3_Frame_Shift_Ins_p.R286fs|PROCA1_ENST00000581289.1_3'UTR	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	312					lipid catabolic process		calcium ion binding|phospholipase A2 activity	p.R284W(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					TCCCTGCCCCCGGCCATTGTAA	0.569													T	27030737	-	T	27030736	7	5	364	1	0	1	1	0	0	0	0	0	12632	652	23	0	163	0	PROCA1	17	27030736	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3206	27030736	54164474	12241	35743											
PROCA1	147011	broad.mit.edu	37	chr17	27031790	27031790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggacacagtcagaggCgaaagggtagatgatgtgcc	11	6	17	7	2	1	3	1	1	0	2	1	5	1	4	1	4	1	1	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27031790C>T	ENST00000301039.2	-	2	356	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	PROCA1_ENST00000579650.1_5'UTR|PROCA1_ENST00000439862.3_Missense_Mutation_p.A57T|PROCA1_ENST00000581289.1_Intron	NM_152465.1	NP_689678.1	Q8NCQ7	PRCA1_HUMAN	protein interacting with cyclin A1	83					lipid catabolic process		calcium ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(4)|ovary(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CAGTCAGAGGCGAAAGGGTAG	0.592													T	27031790	C	T	27031790	3	4	364	1	0	0	0	0	1	0	0	0	12632	768	27	1	859	1	PROCA1	17	27031790	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1054	27031790	54163420	12242	35744											
RAB34	83871	broad.mit.edu	37	chr17	27043037	27043037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggcaagtcttccccacCgacaggtcccccaccacaat	11	6	7	17	1	1	1	0	1	1	0	3	2	3	1	6	2	0	1	6	2	2	1	rs142412914	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27043037C>T	ENST00000395245.3	-	3	812	c.186G>A	c.(184-186)tcG>tcA	p.S62S	RAB34_ENST00000415040.2_Intron|RAB34_ENST00000453384.3_Silent_p.S120S|RAB34_ENST00000395243.3_Silent_p.S62S|RAB34_ENST00000395242.2_Silent_p.S63S|RAB34_ENST00000447716.1_Silent_p.S119S|RAB34_ENST00000450529.1_Silent_p.S62S|RAB34_ENST00000436730.3_Silent_p.S62S|RAB34_ENST00000301043.6_Silent_p.S62S	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	62					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCTTCCCCACCGACAGGTCCC	0.592													T	27043037	C	T	27043037	2	4	364	1	0	0	0	0	0	0	0	1	13012	639	23	1		1	RAB34	17	27043037	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11247	27043037	54152173	12243	35745											
NEK8	284086	broad.mit.edu	37	chr17	27061108	27061108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcagcccagaatgagtGccaggtcctcaagctgctca	10	6	12	13	0	2	2	2	1	0	1	3	2	3	2	3	2	4	4	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061108G>A	ENST00000268766.6	+	2	189	c.155G>A	c.(154-156)tGc>tAc	p.C52Y	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	52	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CAGAATGAGTGCCAGGTCCTC	0.527													A	27061108	G	A	27061108	3	1	364	1	0	0	0	0	1	0	0	0	10406	1319	46	2	161	2	NEK8	17	27061108	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18071	27061108	54134102	12244	35746											
NEK8	284086	broad.mit.edu	37	chr17	27061884	27061884	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcagatcctgcttgcactGcatcatgtgcacacccacct	8	10	8	15	0	1	1	1	0	0	1	2	1	2	1	3	0	5	5	3	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27061884G>A	ENST00000268766.6	+	3	382	c.348G>A	c.(346-348)ctG>ctA	p.L116L	AC010761.6_ENST00000584779.1_RNA|NEK8_ENST00000593261.1_3'UTR	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	116	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TGCTTGCACTGCATCATGTGC	0.552													A	27061884	G	A	27061884	2	1	364	1	0	0	0	0	0	0	0	1	10406	1306	46	2		2	NEK8	17	27061884	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	776	27061884	54133326	12245	35747											
NEK8	284086	broad.mit.edu	37	chr17	27064985	27064985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgcacgcagaaagccggCgtcacgcgctctgggcgtct	6	5	16	14	7	3	1	1	0	2	1	3	1	3	1	1	3	1	3	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27064985C>T	ENST00000268766.6	+	7	1072	c.1038C>T	c.(1036-1038)ggC>ggT	p.G346G	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	346						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGAAAGCCGGCGTCACGCGCT	0.682													T	27064985	C	T	27064985	2	4	364	1	0	0	0	0	0	0	0	1	10406	755	27	1		1	NEK8	17	27064985	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3101	27064985	54130225	12246	35748											
NEK8	284086	broad.mit.edu	37	chr17	27068168	27068168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatactcgccgaggcagtcGggcaccctgtaaggtccaag	10	6	12	13	3	0	0	0	0	0	0	3	1	1	0	3	3	1	3	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27068168G>A	ENST00000268766.6	+	13	1839	c.1805G>A	c.(1804-1806)cGg>cAg	p.R602Q	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	602						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CGAGGCAGTCGGGCACCCTGT	0.577													A	27068168	G	A	27068168	3	1	364	1	0	0	0	0	1	0	0	0	10406	1116	39	1	1855	1	NEK8	17	27068168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3183	27068168	54127042	12247	35749											
TRAF4	9618	broad.mit.edu	37	chr17	27075049	27075049	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagggccacctgaatacCtgcagcttcaatgtcattcc	10	9	7	15	0	2	1	2	1	0	0	3	1	3	1	5	1	3	2	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27075049C>A	ENST00000262395.5	+	4	444	c.315C>A	c.(313-315)acC>acA	p.T105T	TRAF4_ENST00000444415.3_Silent_p.T105T|TRAF4_ENST00000262396.6_Silent_p.T105T	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	105					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			ACCTGAATACCTGCAGCTTCA	0.592													A	27075049	C	A	27075049	2	1	364	1	0	0	0	0	0	0	0	1	16544	668	24	4		4	TRAF4	17	27075049	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6881	27075049	54120161	12248	35750											
TRAF4	9618	broad.mit.edu	37	chr17	27076339	27076339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccctttgcccgccgtgTcaccttctccctgctggatc	2	12	10	17	2	2	0	1	0	1	0	4	1	2	1	5	2	2	1	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27076339T>C	ENST00000262395.5	+	7	1286	c.1157T>C	c.(1156-1158)gTc>gCc	p.V386A	TRAF4_ENST00000444415.3_Splice_Site|TRAF4_ENST00000262396.6_Intron	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	386	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			GCCCGCCGTGTCACCTTCTCC	0.567													C	27076339	T	C	27076339	3	2	364	1	0	0	0	0	1	0	0	0	16544	1667	58	3	1183	3	TRAF4	17	27076339	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1290	27076339	54118871	12249	35751											
PHF12	57649	broad.mit.edu	37	chr17	27251052	27251052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacatagtctggctccGctgctactggttcctcatcc	5	12	9	15	1	2	0	1	0	1	0	5	0	5	0	3	2	3	6	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27251052G>A	ENST00000577226.1	-	4	936	c.590C>T	c.(589-591)gCg>gTg	p.A197V	PHF12_ENST00000582655.1_5'UTR|PHF12_ENST00000268756.3_Missense_Mutation_p.A197V|PHF12_ENST00000332830.4_Missense_Mutation_p.A197V			Q96QT6	PHF12_HUMAN	PHD finger protein 12	197	Interaction with SIN3A.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_cancers(5;1.95e-14)|all_epithelial(6;5e-18)|Lung NSC(42;0.01)		Epithelial(11;1.64e-05)|all cancers(11;7.47e-05)|BRCA - Breast invasive adenocarcinoma(11;9.79e-05)			GTCTGGCTCCGCTGCTACTGG	0.582													A	27251052	G	A	27251052	3	1	364	1	0	0	0	0	1	0	0	0	11900	1087	38	1	2498	1	PHF12	17	27251052	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174713	27251052	53944158	12250	35752											
SEZ6	124925	broad.mit.edu	37	chr17	27284489	27284489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgcacggtggcccccaCgggaaacttggggctggata	9	8	14	10	2	0	0	0	0	0	0	0	2	0	2	2	6	2	2	2	6	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27284489C>T	ENST00000317338.12	-	12	2799	c.2371G>A	c.(2371-2373)Gtg>Atg	p.V791M	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.V791M|SEZ6_ENST00000360295.9_Missense_Mutation_p.V791M			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	791	Sushi 4.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			GTGGCCCCCACGGGAAACTTG	0.597													T	27284489	C	T	27284489	3	4	364	1	0	0	0	0	1	0	0	0	14235	536	19	1	650	1	SEZ6	17	27284489	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33437	27284489	53910721	12251	35753											
SEZ6	124925	broad.mit.edu	37	chr17	27285122	27285122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttccagccattggggatCtcaggcagctccggacatgt	7	10	11	13	1	2	0	1	0	2	0	5	2	4	2	3	4	2	2	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27285122C>A	ENST00000317338.12	-	11	2573	c.2145G>T	c.(2143-2145)gaG>gaT	p.E715D	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000442608.3_Missense_Mutation_p.E715D|SEZ6_ENST00000360295.9_Missense_Mutation_p.E715D			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	715	Sushi 3.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CATTGGGGATCTCAGGCAGCT	0.622													A	27285122	C	A	27285122	3	1	364	1	0	0	0	0	1	0	0	0	14235	912	32	4	880	4	SEZ6	17	27285122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	633	27285122	53910088	12252	35754											
PIPOX	51268	broad.mit.edu	37	chr17	27382238	27382238	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagagctgcatgtacaCggtaaggggtctgggcagcc	9	8	15	9	1	1	1	0	1	1	1	1	2	1	1	1	4	4	5	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27382238C>T	ENST00000323372.4	+	6	1291	c.965C>T	c.(964-966)aCg>aTg	p.T322M	PIPOX_ENST00000583215.1_3'UTR	NM_016518.2	NP_057602.2	Q9P0Z9	SOX_HUMAN	pipecolic acid oxidase	322					tetrahydrofolate metabolic process	peroxisome	L-pipecolate oxidase activity|sarcosine oxidase activity			endometrium(2)|large_intestine(4)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10	Lung NSC(42;0.015)		Epithelial(11;9.87e-06)|BRCA - Breast invasive adenocarcinoma(11;3.92e-05)|all cancers(11;5.59e-05)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		Glycine(DB00145)	TGCATGTACACGGTAAGGGGT	0.572													T	27382238	C	T	27382238	5	4	364	1	0	0	0	0	0	0	1	0	12020	550	19	1	987	1	PIPOX	17	27382238	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97116	27382238	53812972	12253	35755											
MYO18A	399687	broad.mit.edu	37	chr17	27413970	27413970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaccagttcgtgcttcttgCggctcgcctcggcctccttc	2	14	9	16	4	1	0	0	0	1	0	6	0	2	0	4	2	3	3	4	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27413970C>T	ENST00000527372.1	-	38	5876	c.5696G>A	c.(5695-5697)cGc>cAc	p.R1899H	MYO18A_ENST00000533112.1_Missense_Mutation_p.R1862H|MYO18A_ENST00000531253.1_Missense_Mutation_p.R1899H|TIAF1_ENST00000408971.2_5'UTR|MYO18A_ENST00000529578.1_5'UTR|MYO18A_ENST00000354329.4_Missense_Mutation_p.R1899H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1899					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTGCTTCTTGCGGCTCGCCTC	0.627													T	27413970	C	T	27413970	3	4	364	1	0	0	0	0	1	0	0	0	10141	768	27	1	488	1	MYO18A	17	27413970	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31732	27413970	53781240	12254	35756											
ABHD15	116236	broad.mit.edu	37	chr17	27893163	27893163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtagggccagggcaggccGgcctcgaaccactctcggca	7	5	14	15	4	1	0	0	0	1	0	4	1	1	0	4	5	1	3	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27893163G>A	ENST00000307201.4	-	1	992	c.822C>T	c.(820-822)gcC>gcT	p.A274A	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	274						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						AGGGCAGGCCGGCCTCGAACC	0.667													A	27893163	G	A	27893163	2	1	364	1	0	0	0	0	0	0	0	1	81	1103	39	1		1	ABHD15	17	27893163	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	479193	27893163	53302047	12255	35757											
GIT1	28964	broad.mit.edu	37	chr17	27903334	27903334	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttcatacatggaaaaggcCtggcgatccctgcggtgtgt	8	10	14	9	2	1	0	1	0	0	0	2	2	2	1	2	5	2	1	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27903334C>A	ENST00000225394.3	-	14	1763	c.1515G>T	c.(1513-1515)caG>caT	p.Q505H	GIT1_ENST00000581348.1_Missense_Mutation_p.Q514H|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Missense_Mutation_p.Q514H|GIT1_ENST00000579937.1_Missense_Mutation_p.Q505H	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1	505					regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGAAAAGGCCTGGCGATCCC	0.667													A	27903334	C	A	27903334	3	1	364	1	0	0	0	0	1	0	0	0	6452	680	24	4	798	4	GIT1	17	27903334	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10171	27903334	53291876	12256	35758											
ANKRD13B	124930	broad.mit.edu	37	chr17	27934865	27934865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcgcacggcgcagacGtgggcagggagaatcgcagc	8	4	17	12	5	0	2	0	0	0	2	2	3	1	2	1	4	1	4	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27934865G>A	ENST00000394859.3	+	2	374	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	74										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CGGCGCAGACGTGGGCAGGGA	0.697													A	27934865	G	A	27934865	3	1	364	1	0	0	0	0	1	0	0	0	642	1145	40	1	226	1	ANKRD13B	17	27934865	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31531	27934865	53260345	12257	35759											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939446	27939446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatcttccacatcctcaacGcccgcatcaccttcgggaac	9	8	6	18	4	3	0	2	0	1	0	6	2	5	1	4	1	2	1	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27939446G>A	ENST00000394859.3	+	12	1439	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	429										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						CATCCTCAACGCCCGCATCAC	0.637													A	27939446	G	A	27939446	3	1	364	1	0	0	0	0	1	0	0	0	642	1087	38	1	1331	1	ANKRD13B	17	27939446	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4581	27939446	53255764	12258	35760											
CORO6	84940	broad.mit.edu	37	chr17	27946150	27946150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcttggagtggccctcaaGtgtgatgataggttccgtaa	9	11	13	8	2	1	2	1	2	0	0	2	3	2	3	2	3	0	3	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27946150G>A	ENST00000345068.5	-	4	592	c.379C>T	c.(379-381)Ctt>Ttt	p.L127F	CORO6_ENST00000388767.3_Missense_Mutation_p.L127F|RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000584969.1_Missense_Mutation_p.L127F|CORO6_ENST00000580212.1_Missense_Mutation_p.L127F|CORO6_ENST00000445145.2_Missense_Mutation_p.L127F|CORO6_ENST00000577909.1_Intron			Q6QEF8	CORO6_HUMAN	coronin 6	127					actin cytoskeleton organization	actin cytoskeleton	actin filament binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						TGGCCCTCAAGTGTGATGATA	0.567													A	27946150	G	A	27946150	3	1	364	1	0	0	0	0	1	0	0	0	3789	1029	36	2	1071	2	CORO6	17	27946150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6704	27946150	53249060	12259	35761											
SSH2	85464	broad.mit.edu	37	chr17	27959346	27959346	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttgcctttgctcatttCtggttccttgaggacaaatg	6	16	8	11	0	2	1	1	1	1	0	3	2	3	2	3	2	2	2	3	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27959346C>A	ENST00000269033.3	-	15	2936	c.2785G>T	c.(2785-2787)Gaa>Taa	p.E929*	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Nonsense_Mutation_p.E956*	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	929					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGCTCATTTCTGGTTCCTTG	0.488													A	27959346	C	A	27959346	4	1	364	1	0	0	0	0	0	1	0	0	15281	922	32	4	1490	4	SSH2	17	27959346	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13196	27959346	53235864	12260	35762											
SSH2	85464	broad.mit.edu	37	chr17	27963207	27963208	+	Frame_Shift_Ins	INS	-	-	A																															acaaacttctctagggcactINSaaaaaagtcaatgcgatctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:27963207_27963208insA	ENST00000269033.3	-	14	2110_2111	c.1959_1960insT	c.(1957-1962)tttagtfs	p.S654fs	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Frame_Shift_Ins_p.S681fs	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	654					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTAGGGCACTAAAAAAGTCAA	0.505													A	27963208	-	A	27963207	7	5	364	1	0	1	1	0	0	0	0	0	15281	1522	53	0	2319	0	SSH2	17	27963207	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	3861	27963207	53232003	12261	35763											
EFCAB5	374786	broad.mit.edu	37	chr17	28380515	28380515	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagaggagtaactgcaGaacaaggaccacaaagaatt	19	4	11	7	0	0	3	0	0	0	3	0	6	0	5	1	2	4	3	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28380515G>T	ENST00000394835.3	+	10	1735	c.1543G>T	c.(1543-1545)Gaa>Taa	p.E515*	EFCAB5_ENST00000541045.1_Nonsense_Mutation_p.E172*|EFCAB5_ENST00000378738.3_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000536908.2_Nonsense_Mutation_p.E459*|EFCAB5_ENST00000320856.5_Nonsense_Mutation_p.E515*|EFCAB5_ENST00000394832.2_Nonsense_Mutation_p.E515*	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	515							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						AGTAACTGCAGAACAAGGACC	0.398													T	28380515	G	T	28380515	4	4	364	1	0	0	0	0	0	1	0	0	4977	943	33	4	1581	4	EFCAB5	17	28380515	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	417308	28380515	52814695	12262	35764											
EFCAB5	374786	broad.mit.edu	37	chr17	28419932	28419932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgtggaagttaatgtacaGcttattgatgaatatatcag	14	14	9	4	0	1	2	1	2	0	0	1	3	1	3	0	1	2	3	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28419932G>T	ENST00000394835.3	+	22	4491	c.4299G>T	c.(4297-4299)caG>caT	p.Q1433H	EFCAB5_ENST00000320856.5_Missense_Mutation_p.Q1309H|RP11-1148O4.2_ENST00000582938.1_RNA|EFCAB5_ENST00000394832.2_Intron	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1433							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						TTAATGTACAGCTTATTGATG	0.313													T	28419932	G	T	28419932	3	4	364	1	0	0	0	0	1	0	0	0	4977	962	34	4	4552	4	EFCAB5	17	28419932	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39417	28419932	52775278	12263	35765											
SLC6A4	6532	broad.mit.edu	37	chr17	28530324	28530324	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattggaaaagtcgtagttGtggcgggctcatcagaaaac	13	10	12	6	2	2	1	2	0	0	1	3	2	2	2	0	3	1	3	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28530324G>A	ENST00000401766.2	-	13	2196	c.1684C>T	c.(1684-1686)Caa>Taa	p.Q562*	SLC6A4_ENST00000261707.3_Nonsense_Mutation_p.Q562*			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	562					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	AGTCGTAGTTGTGGCGGGCTC	0.363													A	28530324	G	A	28530324	4	1	364	1	0	0	0	0	0	1	0	0	14780	1386	48	2	216	2	SLC6A4	17	28530324	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110392	28530324	52664886	12264	35766											
SLC6A4	6532	broad.mit.edu	37	chr17	28537538	28537538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcatgatactcacaaaagTcagggtgaccagggatccaa	14	6	12	9	0	2	2	2	2	0	0	3	3	3	3	2	3	1	1	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28537538T>C	ENST00000401766.2	-	10	1956	c.1444A>G	c.(1444-1446)Act>Gct	p.T482A	SLC6A4_ENST00000261707.3_Missense_Mutation_p.T482A			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	482					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CTCACAAAAGTCAGGGTGACC	0.592													C	28537538	T	C	28537538	3	2	364	1	0	0	0	0	1	0	0	0	14780	1667	58	3	468	3	SLC6A4	17	28537538	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7214	28537538	52657672	12265	35767											
SLC6A4	6532	broad.mit.edu	37	chr17	28544283	28544283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgatgccccccaggtcCtggagccccttagaccggtg	6	7	12	16	1	0	2	0	1	0	1	1	3	1	3	7	3	3	1	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28544283C>T	ENST00000401766.2	-	5	1250	c.738G>A	c.(736-738)caG>caA	p.Q246Q	SLC6A4_ENST00000261707.3_Silent_p.Q246Q			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	246					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	CCCCCAGGTCCTGGAGCCCCT	0.587													T	28544283	C	T	28544283	2	4	364	1	0	0	0	0	0	0	0	1	14780	680	24	2		2	SLC6A4	17	28544283	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6745	28544283	52650927	12266	35768											
BLMH	642	broad.mit.edu	37	chr17	28601165	28601165	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttgtctcgatattcccaGgtgaatgtctctggtggatt	6	17	10	8	1	3	1	0	1	3	0	6	3	4	2	1	3	0	0	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28601165G>T	ENST00000261714.6	-	7	870	c.696C>A	c.(694-696)acC>acA	p.T232T	BLMH_ENST00000582669.1_5'UTR|BLMH_ENST00000394819.3_Silent_p.T145T	NM_000386.3	NP_000377.1	Q13867	BLMH_HUMAN	bleomycin hydrolase	232					proteolysis	cytoplasm|nucleus	aminopeptidase activity|carboxypeptidase activity|cysteine-type endopeptidase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|stomach(1)	13						GATATTCCCAGGTGAATGTCT	0.438													T	28601165	G	T	28601165	2	4	364	1	0	0	0	0	0	0	0	1	1452	987	35	4		4	BLMH	17	28601165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56882	28601165	52594045	12267	35769											
TMIGD1	388364	broad.mit.edu	37	chr17	28656417	28656417	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttcaaatccactctcccCtcctctcggtaccagagcag	9	10	6	16	1	3	1	1	0	2	1	7	2	5	1	5	1	2	2	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28656417C>A	ENST00000328886.4	-	3	285	c.213G>T	c.(211-213)gaG>gaT	p.E71D	TMIGD1_ENST00000538566.2_Missense_Mutation_p.E71D	NM_206832.1	NP_996663.1	Q6UXZ0	TMIG1_HUMAN	transmembrane and immunoglobulin domain containing 1	71	Ig-like C2-type 1.					integral to membrane				breast(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	12						CCACTCTCCCCTCCTCTCGGT	0.463													A	28656417	C	A	28656417	3	1	364	1	0	0	0	0	1	0	0	0	16330	680	24	4	595	4	TMIGD1	17	28656417	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55252	28656417	52538793	12268	35770											
CPD	1362	broad.mit.edu	37	chr17	28750624	28750624	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttgtaagaactttggAacagaccctgaagtcacaga	14	10	8	9	0	1	4	1	1	0	3	1	5	1	5	2	1	3	1	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:28750624A>C	ENST00000225719.4	+	6	1834	c.1758A>C	c.(1756-1758)ggA>ggC	p.G586G	CPD_ENST00000543464.2_Silent_p.G339G	NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	586	Carboxypeptidase-like 2.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						AGAACTTTGGAACAGACCCTG	0.388													C	28750624	A	C	28750624	2	2	364	1	0	0	0	0	0	0	0	1	3829	233	9	5		5	CPD	17	28750624	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94207	28750624	52444586	12269	35771											
ATAD5	79915	broad.mit.edu	37	chr17	29161853	29161853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaaactctagagataacGtaactgaagcagcccagtta	16	8	8	9	1	1	2	0	1	1	1	1	3	1	2	1	0	6	4	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29161853G>A	ENST00000321990.4	+	2	1132	c.754G>A	c.(754-756)Gta>Ata	p.V252I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	252					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TAGAGATAACGTAACTGAAGC	0.348													A	29161853	G	A	29161853	3	1	364	1	0	0	0	0	1	0	0	0	1081	1145	40	1	760	1	ATAD5	17	29161853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	411229	29161853	52033357	12270	35772											
ATAD5	79915	broad.mit.edu	37	chr17	29162553	29162553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagaagaagaataagaaaaCattagatactggggctattc	20	8	9	4	0	0	5	0	0	0	5	1	5	0	5	0	2	2	1	0	2	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29162553C>T	ENST00000321990.4	+	2	1832	c.1454C>T	c.(1453-1455)aCa>aTa	p.T485I	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	485					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				AATAAGAAAACATTAGATACT	0.308													T	29162553	C	T	29162553	3	4	364	1	0	0	0	0	1	0	0	0	1081	478	17	2	1460	2	ATAD5	17	29162553	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	700	29162553	52032657	12271	35773											
ATAD5	79915	broad.mit.edu	37	chr17	29184017	29184017	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccctcttgtcctctcttaActaaatttaaagaactgaac	13	13	3	12	0	2	2	0	1	2	1	4	2	3	2	2	0	3	0	2	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29184017A>T	ENST00000321990.4	+	8	3058	c.2680A>T	c.(2680-2682)Act>Tct	p.T894S	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	894					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCCTCTCTTAACTAAATTTAA	0.308													T	29184017	A	T	29184017	3	4	364	1	0	0	0	0	1	0	0	0	1081	43	2	5	2710	5	ATAD5	17	29184017	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21464	29184017	52011193	12272	35774											
ATAD5	79915	broad.mit.edu	37	chr17	29185179	29185179	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttattctttattgcagTtcatgaggacaaggaaggaa	13	14	9	5	0	2	1	1	1	1	0	2	4	2	4	0	3	1	2	0	3	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185179T>C	ENST00000321990.4	+	9	3172	c.2794T>C	c.(2794-2796)Ttc>Ctc	p.F932L	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	932					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTATTGCAGTTCATGAGGAC	0.313													C	29185179	T	C	29185179	5	2	364	1	0	0	0	0	0	0	1	0	1081	1739	60	3	2828	3	ATAD5	17	29185179	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1162	29185179	52010031	12273	35775											
ATAD5	79915	broad.mit.edu	37	chr17	29185232	29185232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaagaaatcttttgcttgaGgaaattaggtggtcaaatcc	13	13	10	5	0	2	2	1	1	1	1	3	3	3	3	1	3	1	2	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29185232G>T	ENST00000321990.4	+	9	3225	c.2847G>T	c.(2845-2847)gaG>gaT	p.E949D	CTD-2349P21.11_ENST00000580873.1_RNA	NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	949					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TTTTGCTTGAGGAAATTAGGT	0.323													T	29185232	G	T	29185232	3	4	364	1	0	0	0	0	1	0	0	0	1081	991	35	4	2881	4	ATAD5	17	29185232	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53	29185232	52009978	12274	35776											
ATAD5	79915	broad.mit.edu	37	chr17	29221637	29221637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattttcgagtcgatctcttCtctatgtgggtaatagacaa	10	16	8	7	2	2	1	0	0	2	1	6	3	2	1	0	1	0	1	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29221637C>T	ENST00000321990.4	+	22	5731	c.5353C>T	c.(5353-5355)Ctc>Ttc	p.L1785F		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1785					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				TCGATCTCTTCTCTATGTGGG	0.338													T	29221637	C	T	29221637	3	4	364	1	0	0	0	0	1	0	0	0	1081	913	32	2	5439	2	ATAD5	17	29221637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36405	29221637	51973573	12275	35777											
ADAP2	55803	broad.mit.edu	37	chr17	29283406	29283406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagatttgtcctcacttgcCccagtgagaaggaacagcag	11	8	12	10	0	1	2	1	1	0	2	2	5	2	3	3	2	3	1	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29283406C>A	ENST00000330889.3	+	10	1365	c.1030C>A	c.(1030-1032)Ccc>Acc	p.P344T	ADAP2_ENST00000580525.1_Missense_Mutation_p.P350T|AC091177.1_ENST00000442757.1_RNA	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	344	PH 2.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						CCTCACTTGCCCCAGTGAGAA	0.562													A	29283406	C	A	29283406	3	1	364	1	0	0	0	0	1	0	0	0	280	623	22	4	1068	4	ADAP2	17	29283406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61769	29283406	51911804	12276	35778											
RNF135	84282	broad.mit.edu	37	chr17	29324279	29324279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaactcctggaagccccGtcttcctcctcatgcccatt	7	10	8	16	1	2	1	1	0	1	1	5	3	5	2	6	2	3	0	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29324279G>A	ENST00000535306.2	+	5	778	c.764G>A	c.(763-765)cGt>cAt	p.R255H	RNF135_ENST00000443677.2_Missense_Mutation_p.R131H|RNF135_ENST00000328381.5_Silent_p.P233P|RNF135_ENST00000324689.4_Missense_Mutation_p.R179H	NM_001184992.1	NP_001171921.1	Q8IUD6	RN135_HUMAN	ring finger protein 135	0	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TGGAAGCCCCGTCTTCCTCCT	0.478													A	29324279	G	A	29324279	3	1	364	1	0	0	0	0	1	0	0	0	13531	1145	40	1	782	1	RNF135	17	29324279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40873	29324279	51870931	12277	35779											
RNF135	84282	broad.mit.edu	37	chr17	29325990	29325990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actagccagctctctgcatgGcacatggtcaaggaaactgt	11	9	10	11	0	2	0	1	0	1	0	3	1	2	1	1	3	4	3	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29325990G>T	ENST00000328381.5	+	5	1953	c.1080G>T	c.(1078-1080)tgG>tgT	p.W360C	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	360	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				TCTCTGCATGGCACATGGTCA	0.562													T	29325990	G	T	29325990	3	4	364	1	0	0	0	0	1	0	0	0	13531	1212	42	4	1167	4	RNF135	17	29325990	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1711	29325990	51869220	12278	35780											
NF1	4763	broad.mit.edu	37	chr17	29508478	29508478	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccctaaagaaggttgcgCagttagcagttataaatagc	15	9	10	7	1	0	1	0	0	0	1	0	1	0	1	1	1	4	5	1	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508478C>T	ENST00000358273.4	+	6	1008	c.625C>T	c.(625-627)Cag>Tag	p.Q209*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q209*|NF1_ENST00000431387.4_Nonsense_Mutation_p.Q209*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	209					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGGTTGCGCAGTTAGCAGT	0.299			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29508478	C	T	29508478	4	4	364	1	0	0	0	0	0	1	0	0	10432	711	25	2	647	2	NF1	17	29508478	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182488	29508478	51686732	12279	35781											
NF1	4763	broad.mit.edu	37	chr17	29508800	29508800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agatcccacagactgatatgGctggtaaggatacgattgat	13	10	11	7	1	0	4	0	2	0	2	1	6	1	5	1	3	1	2	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29508800G>A	ENST00000358273.4	+	7	1110	c.727G>A	c.(727-729)Gct>Act	p.A243T	NF1_ENST00000356175.3_Missense_Mutation_p.A243T|NF1_ENST00000431387.4_Missense_Mutation_p.A243T	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	243					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GACTGATATGGCTGGTAAGGA	0.308			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29508800	G	A	29508800	3	1	364	1	0	0	0	0	1	0	0	0	10432	1203	42	2	753	2	NF1	17	29508800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	322	29508800	51686410	12280	35782											
NF1	4763	broad.mit.edu	37	chr17	29554597	29554597	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagctaatccttaactaTccaaaagccaaaatggaaga	20	7	5	9	0	0	1	0	0	0	1	2	2	2	2	3	1	3	1	3	1	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29554597T>C	ENST00000358273.4	+	20	2765	c.2382T>C	c.(2380-2382)taT>taC	p.Y794Y	NF1_ENST00000356175.3_Silent_p.Y794Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	794					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.Y794*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCCTTAACTATCCAAAAGCCA	0.358			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29554597	T	C	29554597	2	2	364	1	0	0	0	0	0	0	0	1	10432	1442	50	3		3	NF1	17	29554597	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	45797	29554597	51640613	12281	35783											
NF1	4763	broad.mit.edu	37	chr17	29557866	29557866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccattctataggaataaGatggtagaatacctgacaga	16	9	8	8	0	1	4	0	1	1	3	1	5	1	5	3	2	1	1	3	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29557866G>T	ENST00000358273.4	+	24	3503	c.3120G>T	c.(3118-3120)aaG>aaT	p.K1040N	NF1_ENST00000356175.3_Missense_Mutation_p.K1040N	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1040					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATAGGAATAAGATGGTAGAAT	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29557866	G	T	29557866	3	4	364	1	0	0	0	0	1	0	0	0	10432	933	33	4	3275	4	NF1	17	29557866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3269	29557866	51637344	12282	35784											
NF1	4763	broad.mit.edu	37	chr17	29562966	29562966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctatctacaaaaactcCtggatcctttattacgaatt	13	14	3	11	1	1	0	0	0	1	0	3	2	3	1	3	1	4	0	3	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29562966C>A	ENST00000358273.4	+	29	4284	c.3901C>A	c.(3901-3903)Ctg>Atg	p.L1301M	NF1_ENST00000356175.3_Missense_Mutation_p.L1301M	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1301	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACAAAAACTCCTGGATCCTTT	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29562966	C	A	29562966	3	1	364	1	0	0	0	0	1	0	0	0	10432	680	24	4	4076	4	NF1	17	29562966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5100	29562966	51632244	12283	35785											
NF1	4763	broad.mit.edu	37	chr17	29587487	29587487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttgctttacatcgtctaCtctggaacaatcaggagaaa	12	12	8	9	1	3	1	1	0	2	1	4	3	3	2	0	2	5	2	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29587487C>T	ENST00000358273.4	+	34	4914	c.4531C>T	c.(4531-4533)Ctc>Ttc	p.L1511F	NF1_ENST00000356175.3_Missense_Mutation_p.L1490F	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1511					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATCGTCTACTCTGGAACAA	0.393			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29587487	C	T	29587487	3	4	364	1	0	0	0	0	1	0	0	0	10432	565	20	2	4726	2	NF1	17	29587487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24521	29587487	51607723	12284	35786											
OMG	4974	broad.mit.edu	37	chr17	29622442	29622443	+	Frame_Shift_Ins	INS	-	-	T																															tgttcgatattgtttgggtaINSttttggtcactttgggttga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622442_29622443insT	ENST00000247271.4	-	2	1168_1169	c.907_908insA	c.(907-909)atafs	p.I303fs	NF1_ENST00000356175.3_Intron|NF1_ENST00000358273.4_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	303					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		TTGTTTGGGTATTTTGGTCACT	0.431													T	29622443	-	T	29622442	7	5	364	1	0	1	1	0	0	0	0	0	10942	449	16	0	418	0	OMG	17	29622442	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	34955	29622442	51572768	12285	35787											
OMG	4974	broad.mit.edu	37	chr17	29622720	29622720	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactgaaagagttggtcaaaAgattggtctggaatgaatgt	15	11	12	3	0	2	4	1	2	1	2	2	5	2	5	0	3	1	1	0	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29622720A>G	ENST00000247271.4	-	2	891	c.630T>C	c.(628-630)tcT>tcC	p.S210S	NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_002544.4	NP_002535.3	P23515	OMGP_HUMAN	oligodendrocyte myelin glycoprotein	210					cell adhesion|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|plasma membrane		p.0?(8)|p.?(3)		breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|stomach(1)	13		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;1.81e-13)|Epithelial(4;4.04e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.49e-12)|GBM - Glioblastoma multiforme(4;0.121)		GTTGGTCAAAAGATTGGTCTG	0.363													G	29622720	A	G	29622720	2	3	364	1	0	0	0	0	0	0	0	1	10942	59	3	3		3	OMG	17	29622720	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	278	29622720	51572490	12286	35788											
EVI2A	2123	broad.mit.edu	37	chr17	29645983	29645983	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaaactgttgtcatcaGaaaggcaagatgtaggtaat	18	9	10	4	0	2	3	2	0	0	3	2	3	2	3	0	2	1	4	0	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29645983G>T	ENST00000247270.3	-	3	454	c.118C>A	c.(118-120)Ctg>Atg	p.L40M	EVI2A_ENST00000461237.1_Missense_Mutation_p.L17M|NF1_ENST00000581113.2_Intron|EVI2A_ENST00000462804.2_Missense_Mutation_p.L17M|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_001003927.2	NP_001003927.1	P22794	EVI2A_HUMAN	ecotropic viral integration site 2A	17						integral to membrane	transmembrane receptor activity	p.0?(8)|p.?(3)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;5.94e-13)|Epithelial(4;7.98e-12)|OV - Ovarian serous cystadenocarcinoma(4;9.4e-12)|GBM - Glioblastoma multiforme(4;0.18)		GTTGTCATCAGAAAGGCAAGA	0.398													T	29645983	G	T	29645983	3	4	364	1	0	0	0	0	1	0	0	0	5328	933	33	4	665	4	EVI2A	17	29645983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23263	29645983	51549227	12287	35789											
RAB11FIP4	84440	broad.mit.edu	37	chr17	29848935	29848935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttccctcatgaatcagtgCggggcagacgcctaggaaaa	11	8	11	11	2	2	2	2	1	0	1	3	3	3	3	2	3	1	1	2	3	4	2	rs145696920		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:29848935C>T	ENST00000325874.8	+	6	990	c.761C>T	c.(760-762)gCg>gTg	p.A254V	RAB11FIP4_ENST00000394744.2_Missense_Mutation_p.A152V	NM_032932.3	NP_116321.2	Q86YS3	RFIP4_HUMAN	RAB11 family interacting protein 4 (class II)	254	Necessary for interaction with RAB11A, subcellular location, homo- or heterooligomerization.				cytokinesis|interspecies interaction between organisms|protein transport	cleavage furrow|endocytic vesicle|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(10;3.62e-13)|all_epithelial(10;0.000387)|all_lung(9;0.0132)|Breast(31;0.014)|all_hematologic(16;0.015)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0259)|Ovarian(249;0.0423)|Lung NSC(157;0.066)				TGAATCAGTGCGGGGCAGACG	0.502													T	29848935	C	T	29848935	3	4	364	1	0	0	0	0	1	0	0	0	12984	768	27	1	783	1	RAB11FIP4	17	29848935	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202952	29848935	51346275	12288	35790											
UTP6	55813	broad.mit.edu	37	chr17	30202297	30202297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcaaaaagcatggctaTgtcagggctctttgactcga	10	13	9	9	1	4	1	2	1	2	0	5	2	4	1	0	2	1	3	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30202297T>C	ENST00000261708.4	-	14	1398	c.1261A>G	c.(1261-1263)Ata>Gta	p.I421V	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGCATGGCTATGTCAGGGCTC	0.463													C	30202297	T	C	30202297	3	2	364	1	0	0	0	0	1	0	0	0	17204	1464	51	3	556	3	UTP6	17	30202297	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	353362	30202297	50992913	12289	35791											
RHOT1	55288	broad.mit.edu	37	chr17	30521076	30521076	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggactgtgcttcgacgAtttggttatgatgatgacct	8	15	11	7	2	0	3	0	3	0	0	1	6	0	4	1	2	1	2	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30521076A>G	ENST00000358365.3	+	11	1046	c.819A>G	c.(817-819)cgA>cgG	p.R273R	RHOT1_ENST00000545287.2_Silent_p.R273R|RHOT1_ENST00000583994.1_Silent_p.R146R|RHOT1_ENST00000394692.2_Silent_p.R273R|RHOT1_ENST00000333942.6_Silent_p.R273R|RHOT1_ENST00000580976.1_3'UTR|RHOT1_ENST00000354266.3_Silent_p.R252R|RHOT1_ENST00000581094.1_Silent_p.R273R	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	273					apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				TGCTTCGACGATTTGGTTATG	0.333													G	30521076	A	G	30521076	2	3	364	1	0	0	0	0	0	0	0	1	13432	320	12	3		3	RHOT1	17	30521076	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	318779	30521076	50674134	12290	35792											
RHBDL3	162494	broad.mit.edu	37	chr17	30632392	30632392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctgtggctgacatgaccGctccagtcgtgggctcttct	4	13	12	12	2	3	2	0	2	3	0	5	2	4	2	2	2	0	3	2	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30632392G>A	ENST00000269051.4	+	7	828	c.814G>A	c.(814-816)Gct>Act	p.A272T	RHBDL3_ENST00000536287.1_Missense_Mutation_p.A174T|RHBDL3_ENST00000538145.1_Missense_Mutation_p.A264T	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	272					proteolysis	integral to membrane	calcium ion binding|serine-type endopeptidase activity	p.A272S(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TGACATGACCGCTCCAGTCGT	0.577													A	30632392	G	A	30632392	3	1	364	1	0	0	0	0	1	0	0	0	13412	1087	38	1	840	1	RHBDL3	17	30632392	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111316	30632392	50562818	12291	35793											
C17orf75	64149	broad.mit.edu	37	chr17	30666927	30666927	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctctggctccacttcGgatggtagattagtatctgc	7	12	11	11	2	2	1	0	0	2	1	4	2	3	2	1	3	2	5	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30666927G>A	ENST00000577809.1	-	3	301	c.252C>T	c.(250-252)tcC>tcT	p.S84S	C17orf75_ENST00000225805.4_Silent_p.S84S|RP11-227G15.3_ENST00000581915.1_RNA	NM_022344.3	NP_071739.2	Q9HAS0	NJMU_HUMAN	chromosome 17 open reading frame 75	84					spermatogenesis					ovary(1)	1		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GCTCCACTTCGGATGGTAGAT	0.458													A	30666927	G	A	30666927	2	1	364	1	0	0	0	0	0	0	0	1	1897	1103	39	1		1	C17orf75	17	30666927	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34535	30666927	50528283	12292	35794											
ZNF207	7756	broad.mit.edu	37	chr17	30694947	30694947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtactgcagctaaaccaGcggcttcaataacaagtaag	16	8	8	9	1	1	0	1	0	0	0	1	0	1	0	1	1	6	5	1	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30694947G>T	ENST00000394670.4	+	10	1247	c.1078G>T	c.(1078-1080)Gcg>Tcg	p.A360S	ZNF207_ENST00000342555.6_Missense_Mutation_p.A363S|ZNF207_ENST00000341711.6_Missense_Mutation_p.A261S|ZNF207_ENST00000577908.1_Missense_Mutation_p.A360S|ZNF207_ENST00000321233.6_Missense_Mutation_p.A344S|ZNF207_ENST00000394673.2_Missense_Mutation_p.A329S	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	344						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AGCTAAACCAGCGGCTTCAAT	0.428													T	30694947	G	T	30694947	3	4	364	1	0	0	0	0	1	0	0	0	17866	971	34	4	1116	4	ZNF207	17	30694947	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28020	30694947	50500263	12293	35795											
PSMD11	5717	broad.mit.edu	37	chr17	30791130	30791130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaactttcttacgccaaGctttggaggtaggttttaca	12	13	9	7	1	1	1	0	0	1	1	1	2	1	2	1	3	4	3	1	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30791130G>A	ENST00000261712.3	+	4	645	c.382G>A	c.(382-384)Gct>Act	p.A128T	PSMD11_ENST00000457654.2_Missense_Mutation_p.A128T	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	128					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			CTTACGCCAAGCTTTGGAGGT	0.423													A	30791130	G	A	30791130	3	1	364	1	0	0	0	0	1	0	0	0	12779	971	34	2	396	2	PSMD11	17	30791130	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96183	30791130	50404080	12294	35796											
MYO1D	4642	broad.mit.edu	37	chr17	30986141	30986141	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacgttcttacctattgaaAatcgtctgcagggcctcctc	8	12	8	13	2	2	1	0	1	2	0	5	1	3	1	3	1	2	3	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:30986141A>G	ENST00000318217.5	-	17	2641	c.2337T>C	c.(2335-2337)atT>atC	p.I779I	MYO1D_ENST00000394649.4_Silent_p.I691I|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000579584.1_Silent_p.I779I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	779						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			ACCTATTGAAAATCGTCTGCA	0.498											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	30986141	A	G	30986141	2	3	364	1	0	0	0	0	0	0	0	1	10147	10	1	3		3	MYO1D	17	30986141	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	195011	30986141	50209069	12295	35797											
MYO1D	4642	broad.mit.edu	37	chr17	31039046	31039046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttatgagcatctgggcaCggagttcttccaaggtaaac	10	11	10	10	1	2	1	0	1	2	0	4	2	4	2	2	3	2	4	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31039046C>T	ENST00000318217.5	-	16	2385	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	MYO1D_ENST00000394649.4_Missense_Mutation_p.R606H|MYO1D_ENST00000579584.1_Missense_Mutation_p.R694H	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	694						myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CATCTGGGCACGGAGTTCTTC	0.333													T	31039046	C	T	31039046	3	4	364	1	0	0	0	0	1	0	0	0	10147	536	19	1	967	1	MYO1D	17	31039046	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52905	31039046	50156164	12296	35798											
TMEM98	26022	broad.mit.edu	37	chr17	31267806	31267806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttttttccctaggaCgactgccctgctcctgtctg	3	18	7	13	1	2	0	0	0	2	0	4	2	4	1	3	1	2	1	3	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31267806C>T	ENST00000579849.1	+	8	907	c.476C>T	c.(475-477)aCg>aTg	p.T159M	TMEM98_ENST00000578289.1_Intron|TMEM98_ENST00000394642.3_Missense_Mutation_p.T159M	NM_015544.2	NP_056359.2	Q9Y2Y6	TMM98_HUMAN	transmembrane protein 98	159						endoplasmic reticulum|integral to membrane				kidney(2)|large_intestine(1)	3		Ovarian(249;0.182)|Breast(31;0.244)	BRCA - Breast invasive adenocarcinoma(9;0.0769)			TTCCCTAGGACGACTGCCCTG	0.498													T	31267806	C	T	31267806	3	4	364	1	0	0	0	0	1	0	0	0	16325	536	19	1	498	1	TMEM98	17	31267806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228760	31267806	49927404	12297	35799											
SPACA3	124912	broad.mit.edu	37	chr17	31324527	31324527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagataacccaagagcctcaGggtctgggttactggtaagt	12	9	12	8	0	2	2	1	0	1	2	2	2	2	2	2	3	3	2	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:31324527G>T	ENST00000580599.1	+	5	769	c.360G>T	c.(358-360)caG>caT	p.Q120H	SPACA3_ENST00000269053.3_Missense_Mutation_p.Q189H|SPACA3_ENST00000394638.1_Missense_Mutation_p.Q86H|SPACA3_ENST00000394637.2_3'UTR			Q8IXA5	SACA3_HUMAN	sperm acrosome associated 3	189					cell wall macromolecule catabolic process|defense response to Gram-positive bacterium|monocyte activation|peptidoglycan catabolic process|positive regulation of macrophage activation|positive regulation of phagocytosis|response to virus	acrosomal membrane|extracellular region|integral to membrane|lysosome	bacterial cell surface binding|lysozyme activity|protein binding			breast(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(9;0.193)			AAGAGCCTCAGGGTCTGGGTT	0.507													T	31324527	G	T	31324527	3	4	364	1	0	0	0	0	1	0	0	0	15067	991	35	4	581	4	SPACA3	17	31324527	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56721	31324527	49870683	12298	35800											
CCL11	6356	broad.mit.edu	37	chr17	32614187	32614187	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagcgactagagagctacaGgagaatcaccagtggcaaat	15	6	11	9	1	2	2	2	0	0	2	2	5	2	2	1	2	3	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:32614187G>T	ENST00000305869.3	+	2	290	c.149G>T	c.(148-150)aGg>aTg	p.R50M		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	50					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		GAGAGCTACAGGAGAATCACC	0.443													T	32614187	G	T	32614187	3	4	364	1	0	0	0	0	1	0	0	0	2911	1000	35	4	155	4	CCL11	17	32614187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1289660	32614187	48581023	12299	35801											
LIG3	3980	broad.mit.edu	37	chr17	33326454	33326454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagaatgaactagacatgGtgaagatcagcaaggtgagg	15	7	14	5	0	1	6	1	3	0	3	1	6	1	6	0	3	3	2	0	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33326454G>A	ENST00000378526.4	+	15	2375	c.2242G>A	c.(2242-2244)Gtg>Atg	p.V748M	LIG3_ENST00000262327.5_Missense_Mutation_p.V748M	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	748					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	ACTAGACATGGTGAAGATCAG	0.572								Other BER factors					A	33326454	G	A	33326454	3	1	364	1	0	0	0	0	1	0	0	0	8842	1261	44	2	2296	2	LIG3	17	33326454	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	712267	33326454	47868756	12300	35802											
SLFN5	162394	broad.mit.edu	37	chr17	33585854	33585854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcctgcgagcagtatgtGctctgctgaattctggtggg	6	13	13	9	1	3	1	1	1	2	0	4	2	4	1	1	2	4	4	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33585854G>A	ENST00000299977.4	+	2	293	c.145G>A	c.(145-147)Gct>Act	p.A49T	SLFN5_ENST00000592325.1_Missense_Mutation_p.A49T|SLFN5_ENST00000542451.1_Missense_Mutation_p.A49T	NM_144975.3	NP_659412.3	Q08AF3	SLFN5_HUMAN	schlafen family member 5	49					cell differentiation		ATP binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(8)|liver(2)|lung(6)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	34		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0191)		AGCAGTATGTGCTCTGCTGAA	0.488													A	33585854	G	A	33585854	3	1	364	1	0	0	0	0	1	0	0	0	14831	1319	46	2	147	2	SLFN5	17	33585854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	259400	33585854	47609356	12301	35803											
SLFN11	91607	broad.mit.edu	37	chr17	33690097	33690097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccaataaaaagatagcCtcctccagtgtttgcaaatg	14	10	6	11	0	0	1	0	0	0	1	3	1	3	1	4	0	2	2	4	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33690097C>A	ENST00000394566.1	-	4	1002	c.730G>T	c.(730-732)Ggc>Tgc	p.G244C	SLFN11_ENST00000308377.4_Missense_Mutation_p.G244C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	244						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAAAGATAGCCTCCTCCAGTG	0.388													A	33690097	C	A	33690097	3	1	364	1	0	0	0	0	1	0	0	0	14827	681	24	4	1991	4	SLFN11	17	33690097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104243	33690097	47505113	12302	35804											
SLFN12L	100506736	broad.mit.edu	37	chr17	33802201	33802201	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttttagtgtaaccaccaAtttttgccagcttctgtttt	7	20	5	9	0	1	0	0	0	1	0	1	0	1	0	3	0	3	3	3	0	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33802201A>C	ENST00000260908.7	-	4	1625	c.1508T>G	c.(1507-1509)aTt>aGt	p.I503S	SLFN12L_ENST00000449046.1_Missense_Mutation_p.I534S|SLFN12L_ENST00000361112.4_Missense_Mutation_p.I532S	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	535						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GTAACCACCAATTTTTGCCAG	0.403													C	33802201	A	C	33802201	3	2	364	1	0	0	0	0	1	0	0	0	14829	101	4	5	262	5	SLFN12L	17	33802201	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	112104	33802201	47393009	12303	35805											
SLFN12L	100506736	broad.mit.edu	37	chr17	33806684	33806684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaacacaggccctttttGcagggaattctggtcttaaa	11	12	8	10	0	3	0	1	0	2	0	3	1	3	1	1	3	2	1	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806684G>A	ENST00000260908.7	-	2	662	c.545C>T	c.(544-546)gCa>gTa	p.A182V	SLFN12L_ENST00000449046.1_Missense_Mutation_p.A213V|SLFN12L_ENST00000361112.4_Missense_Mutation_p.A211V	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	214						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						GGCCCTTTTTGCAGGGAATTC	0.403													A	33806684	G	A	33806684	3	1	364	1	0	0	0	0	1	0	0	0	14829	1319	46	2	1233	2	SLFN12L	17	33806684	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4483	33806684	47388526	12304	35806											
SLFN12L	100506736	broad.mit.edu	37	chr17	33806727	33806727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctctccctccagttttttCcatgtctttgaggaactcca	6	16	6	13	0	2	1	0	1	2	0	6	2	5	2	4	1	2	2	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33806727C>T	ENST00000260908.7	-	2	619	c.502G>A	c.(502-504)Gaa>Aaa	p.E168K	SLFN12L_ENST00000449046.1_Missense_Mutation_p.E199K|SLFN12L_ENST00000361112.4_Missense_Mutation_p.E197K	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	200						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						CCAGTTTTTTCCATGTCTTTG	0.453													T	33806727	C	T	33806727	3	4	364	1	0	0	0	0	1	0	0	0	14829	864	30	2	1276	2	SLFN12L	17	33806727	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43	33806727	47388483	12305	35807											
PEX12	5193	broad.mit.edu	37	chr17	33904225	33904225	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtacaagaaaccatcctTcccaggccatgttcacaaat	13	10	6	12	0	1	1	1	0	0	1	3	1	3	1	4	1	2	3	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33904225T>A	ENST00000225873.4	-	2	1119	c.512A>T	c.(511-513)gAa>gTa	p.E171V		NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	171					protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAACCATCCTTCCCAGGCCAT	0.483													A	33904225	T	A	33904225	3	1	364	1	0	0	0	0	1	0	0	0	11817	1783	62	5	575	5	PEX12	17	33904225	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	97498	33904225	47290985	12306	35808											
AP2B1	163	broad.mit.edu	37	chr17	33935342	33935342	+	Frame_Shift_Del	DEL	A	A	-																															actccatgatatcaatgcccAaatggtggaagatcagggat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33935342delA	ENST00000262325.7	+	5	1014	c.461delA	c.(460-462)caafs	p.Q154fs	AP2B1_ENST00000589344.1_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000537622.2_Frame_Shift_Del_p.Q154fs|AP2B1_ENST00000592545.1_Frame_Shift_Del_p.Q116fs|AP2B1_ENST00000538556.1_Frame_Shift_Del_p.Q97fs|AP2B1_ENST00000312678.8_Frame_Shift_Del_p.Q154fs	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	154					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		ATCAATGCCCAAATGGTGGAA	0.448													-	33935342	A	-	33935342	7	5	364	1	0	1	0	1	0	0	0	0	743	130	5	0	475	0	AP2B1	17	33935342	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	31117	33935342	47259868	12307	35809											
AP2B1	163	broad.mit.edu	37	chr17	33966767	33966767	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctggagggttttcacgaTgaaagcacccaggtaagttc	10	11	11	9	1	1	1	1	1	0	0	3	3	2	2	2	3	1	4	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33966767T>C	ENST00000262325.7	+	11	1978	c.1425T>C	c.(1423-1425)gaT>gaC	p.D475D	AP2B1_ENST00000312678.8_Silent_p.D475D|AP2B1_ENST00000537622.2_Silent_p.D475D|AP2B1_ENST00000538556.1_Silent_p.D418D|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Silent_p.D437D|AP2B1_ENST00000589344.1_Silent_p.D475D	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	475					axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GTTTTCACGATGAAAGCACCC	0.413													C	33966767	T	C	33966767	2	2	364	1	0	0	0	0	0	0	0	1	743	1461	51	3		3	AP2B1	17	33966767	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31425	33966767	47228443	12308	35810											
AP2B1	163	broad.mit.edu	37	chr17	33984748	33984748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcggtcccccagtcaatgtgCcacaggtgtcctccatgcag	7	9	10	15	1	1	0	1	0	0	0	5	0	4	0	5	2	2	1	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:33984748C>T	ENST00000262325.7	+	14	2480	c.1927C>T	c.(1927-1929)Cca>Tca	p.P643S	AP2B1_ENST00000312678.8_Missense_Mutation_p.P643S|AP2B1_ENST00000537622.2_Missense_Mutation_p.P643S|AP2B1_ENST00000538556.1_Missense_Mutation_p.P586S|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000592545.1_Missense_Mutation_p.P605S|AP2B1_ENST00000589344.1_Missense_Mutation_p.P643S	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	643	Pro-rich (stalk region).				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|coated pit|cytosol|endocytic vesicle membrane|plasma membrane	clathrin binding|protein transporter activity			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		AGTCAATGTGCCACAGGTGTC	0.488													T	33984748	C	T	33984748	3	4	364	1	0	0	0	0	1	0	0	0	743	739	26	2	1977	2	AP2B1	17	33984748	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17981	33984748	47210462	12309	35811											
GAS2L2	246176	broad.mit.edu	37	chr17	34072536	34072536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggagggatggggacccCtgagccagttcttggatggc	8	9	16	8	0	1	1	0	1	1	0	1	5	1	5	3	6	1	1	3	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072536C>A	ENST00000254466.6	-	6	2007	c.1980G>T	c.(1978-1980)caG>caT	p.Q660H	GAS2L2_ENST00000587565.1_Missense_Mutation_p.Q644H	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	660					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ATGGGGACCCCTGAGCCAGTT	0.627													A	34072536	C	A	34072536	3	1	364	1	0	0	0	0	1	0	0	0	6301	680	24	4	666	4	GAS2L2	17	34072536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87788	34072536	47122674	12310	35812											
GAS2L2	246176	broad.mit.edu	37	chr17	34072720	34072720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcaaggctacagtagatgGcttgctccttgttcccgccc	6	12	9	14	1	1	1	1	0	0	1	3	1	3	1	3	2	2	5	3	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34072720G>A	ENST00000254466.6	-	6	1823	c.1796C>T	c.(1795-1797)gCc>gTc	p.A599V	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A583V	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	599					cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACAGTAGATGGCTTGCTCCTT	0.597													A	34072720	G	A	34072720	3	1	364	1	0	0	0	0	1	0	0	0	6301	1203	42	2	850	2	GAS2L2	17	34072720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184	34072720	47122490	12311	35813											
GAS2L2	246176	broad.mit.edu	37	chr17	34079532	34079532	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggatgaagttagagacaTtgtccctggcctggaaggta	11	10	13	7	0	0	2	0	1	0	1	1	5	1	4	2	4	0	2	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34079532T>C	ENST00000254466.6	-	1	365	c.338A>G	c.(337-339)aAt>aGt	p.N113S	GAS2L2_ENST00000587565.1_Missense_Mutation_p.N113S	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	113	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTAGAGACATTGTCCCTGGC	0.597													C	34079532	T	C	34079532	3	2	364	1	0	0	0	0	1	0	0	0	6301	1493	52	3	2328	3	GAS2L2	17	34079532	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6812	34079532	47115678	12312	35814											
TAF15	8148	broad.mit.edu	37	chr17	34172001	34172001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagaccgaggtgggggctaCggaggagaccgaggtggcta	9	4	21	7	3	0	2	0	0	0	2	0	7	0	3	2	8	1	2	2	8	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34172001C>T	ENST00000592237.1	+	18	1641	c.1112C>T	c.(1111-1113)aCg>aTg	p.T371M	TAF15_ENST00000588240.1_Silent_p.Y566Y|TAF15_ENST00000311979.3_Silent_p.Y563Y			Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	0	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		GTGGGGGCTACGGAGGAGACC	0.552			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								T	34172001	C	T	34172001	3	4	364	1	0	0	0	0	1	0	0	0	15615	547	19	1	1756	1	TAF15	17	34172001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92469	34172001	47023209	12313	35815											
TAF15	8148	broad.mit.edu	37	chr17	34173933	34173933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgactacagaaatgatcagcGcaaccgaccatactgatgac	15	6	8	12	3	1	4	1	3	0	1	1	6	1	4	2	0	4	1	2	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34173933G>A	ENST00000588240.1	+	16	1878	c.1763G>A	c.(1762-1764)cGc>cAc	p.R588H	TAF15_ENST00000592237.1_Missense_Mutation_p.A393T|TAF15_ENST00000311979.3_Missense_Mutation_p.R585H	NM_003487.3|NM_139215.2	NP_003478.1|NP_631961.1	Q92804	RBP56_HUMAN	TAF15 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 68kDa	588	Arg/Gly-rich.				positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		TAF15/NR4A3(33)	lung(1)|ovary(1)|skin(2)|stomach(1)	5		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AATGATCAGCGCAACCGACCA	0.428			T	"TEC, CHN1, ZNF384"	"extraskeletal myxoid chondrosarcomas, ALL"								A	34173933	G	A	34173933	3	1	364	1	0	0	0	0	1	0	0	0	15615	1087	38	1	1825	1	TAF15	17	34173933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1932	34173933	47021277	12314	35816											
C17orf66	256957	broad.mit.edu	37	chr17	34190004	34190004	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcccaatcaccttgtCtttagagacagcagcccagg	9	10	8	14	0	2	1	1	0	1	1	4	2	4	1	4	1	2	1	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34190004C>A	ENST00000311880.2	-	8	899	c.751G>T	c.(751-753)Gac>Tac	p.D251Y	C17orf66_ENST00000592980.1_Missense_Mutation_p.D211Y	NM_152781.2	NP_689994.2	A2RTY3	CQ066_HUMAN	chromosome 17 open reading frame 66	251							binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		ATCACCTTGTCTTTAGAGACA	0.483													A	34190004	C	A	34190004	3	1	364	1	0	0	0	0	1	0	0	0	1890	913	32	4	993	4	C17orf66	17	34190004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16071	34190004	47005206	12315	35817											
CCL5	6352	broad.mit.edu	37	chr17	34199458	34199458	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacacttggcggttctttcGggtgacaaagctgtgggaga	9	10	14	8	2	1	2	0	1	1	1	2	3	1	2	0	4	1	2	0	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34199458G>A	ENST00000293272.3	-	3	401	c.199C>T	c.(199-201)Cga>Tga	p.R67*	AC015849.2_ENST00000413928.1_RNA|CCL5_ENST00000366113.3_Nonsense_Mutation_p.R67*	NM_002985.2	NP_002976.2	P13501	CCL5_HUMAN	chemokine (C-C motif) ligand 5	67					activation of phospholipase D activity|cell-cell signaling|cellular protein complex assembly|chemokine-mediated signaling pathway|dendritic cell chemotaxis|eosinophil chemotaxis|immune response|leukocyte cell-cell adhesion|macrophage chemotaxis|negative regulation of T cell apoptosis|negative regulation of viral genome replication|neutrophil activation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell-cell adhesion mediated by integrin|positive regulation of homotypic cell-cell adhesion|positive regulation of innate immune response|positive regulation of macrophage chemotaxis|positive regulation of monocyte chemotaxis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of T cell apoptosis|positive regulation of T cell chemotaxis|positive regulation of T cell proliferation|positive regulation of translational initiation|positive regulation of tyrosine phosphorylation of STAT protein|positive regulation of viral genome replication|protein tetramerization|regulation of chronic inflammatory response|response to virus	extracellular space	CCR1 chemokine receptor binding|CCR4 chemokine receptor binding|CCR5 chemokine receptor binding|chemoattractant activity|chemokine activity|chemokine receptor antagonist activity|protein homodimerization activity|protein self-association|receptor signaling protein tyrosine kinase activator activity			breast(1)|kidney(1)|lung(1)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0183)		CGGTTCTTTCGGGTGACAAAG	0.507													A	34199458	G	A	34199458	4	1	364	1	0	0	0	0	0	1	0	0	2935	1124	39	1	80	1	CCL5	17	34199458	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9454	34199458	46995752	12316	35818											
CCL4L1	9560	broad.mit.edu	37	chr17	34539909	34539909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaaagaggcaagcaaGtctgcgctgaccccagtgag	15	4	11	11	1	1	3	0	2	1	1	1	3	1	3	3	1	3	3	3	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34539909G>A	ENST00000588929.1	+	3	281	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	CCL4L1_ENST00000589079.1_3'UTR|CCL4L1_ENST00000444414.1_Missense_Mutation_p.V73I|CCL4L1_ENST00000358756.5_Silent_p.K34K|CCL4L1_ENST00000400702.4_3'UTR|CCL4L1_ENST00000586598.1_3'UTR|CCL4L1_ENST00000378352.4_Missense_Mutation_p.V73I|CCL4L1_ENST00000591167.1_3'UTR|CCL4L1_ENST00000591637.1_3'UTR|CCL4L1_ENST00000589336.1_3'UTR|CCL4L1_ENST00000389068.5_Silent_p.K29K|CCL4L1_ENST00000378350.4_3'UTR	NM_001001435.2	NP_001001435.1			chemokine (C-C motif) ligand 4-like 1														Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGCAAGCAAGTCTGCGCTGA	0.522													A	34539909	G	A	34539909	3	1	364	1	0	0	0	0	1	0	0	0	2933	1029	36	2	227	2	CCL4L1	17	34539909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340451	34539909	46655301	12317	35819											
PIGW	284098	broad.mit.edu	37	chr17	34894404	34894404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggtcaatctctatatgtTttccaactgtttaattgtat	9	20	6	6	0	2	0	1	0	1	0	4	0	3	0	1	1	1	3	1	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34894404T>C	ENST00000592983.1	+	2	2034	c.1454T>C	c.(1453-1455)tTt>tCt	p.F485S	PIGW_ENST00000328396.2_Missense_Mutation_p.F485S|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	485					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CTCTATATGTTTTCCAACTGT	0.348													C	34894404	T	C	34894404	3	2	364	1	0	0	0	0	1	0	0	0	11979	1841	64	3	1456	3	PIGW	17	34894404	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	354495	34894404	46300806	12318	35820											
DHRS11	79154	broad.mit.edu	37	chr17	34954662	34954662	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagcggaatgtggacgAtgggcacatcattaacatca	14	7	13	7	2	2	0	2	0	0	0	2	5	2	3	0	4	2	1	0	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:34954662A>G	ENST00000251312.5	+	3	640	c.428A>G	c.(427-429)gAt>gGt	p.D143G	DHRS11_ENST00000590554.1_Missense_Mutation_p.D64G	NM_024308.3	NP_077284.2	Q6UWP2	DHR11_HUMAN	dehydrogenase/reductase (SDR family) member 11	143						extracellular region	binding|oxidoreductase activity			endometrium(1)|lung(4)	5						AATGTGGACGATGGGCACATC	0.577													G	34954662	A	G	34954662	3	3	364	1	0	0	0	0	1	0	0	0	4526	333	12	3	438	3	DHRS11	17	34954662	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60258	34954662	46240548	12319	35821											
LHX1	3975	broad.mit.edu	37	chr17	35295511	35295511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccatggttcactgtgccgGctgcaaaaggcccatcctgg	8	8	12	13	1	1	0	1	0	0	0	2	1	2	0	4	4	2	3	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35295511G>A	ENST00000254457.5	+	1	1428	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	6	LIM zinc-binding 1.				cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				CACTGTGCCGGCTGCAAAAGG	0.562													A	35295511	G	A	35295511	3	1	364	1	0	0	0	0	1	0	0	0	8830	1203	42	2	19	2	LHX1	17	35295511	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	340849	35295511	45899699	12320	35822											
AATF	26574	broad.mit.edu	37	chr17	35310341	35310341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagccactctgcaaaaacaCcgggcttcagtgtccagagt	12	7	10	12	1	2	1	1	0	1	1	3	2	3	1	3	1	3	2	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35310341C>T	ENST00000225402.5	+	3	690	c.439C>T	c.(439-441)Ccg>Tcg	p.P147S		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	147	Glu-rich.				anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGCAAAAACACCGGGCTTCAG	0.512													T	35310341	C	T	35310341	3	4	364	1	0	0	0	0	1	0	0	0	25	507	18	2	449	2	AATF	17	35310341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14830	35310341	45884869	12321	35823											
ACACA	31	broad.mit.edu	37	chr17	35512704	35512704	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatataaatacctgtatcccTgtgaagcacaaatagttttt	14	14	6	7	0	0	1	0	1	0	0	1	2	1	1	2	0	2	3	2	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35512704T>C	ENST00000353139.5	-	43	5831		c.e43-2		ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000361253.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CCTGTATCCCTGTGAAGCACA	0.378													C	35512704	T	C	35512704	5	2	364	1	0	0	0	0	0	0	1	0	106	1594	55	3	1859	3	ACACA	17	35512704	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	202363	35512704	45682506	12322	35824											
ACACA	31	broad.mit.edu	37	chr17	35563703	35563703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggacattataccttatcCtcatcataaagagacgtgtg	14	11	8	8	1	2	1	2	0	0	1	3	3	3	2	2	1	1	0	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35563703C>A	ENST00000353139.5	-	32	4423	c.3942G>T	c.(3940-3942)gaG>gaT	p.E1314D	ACACA_ENST00000335166.5_Missense_Mutation_p.E1199D|ACACA_ENST00000360679.3_Missense_Mutation_p.E1219D|ACACA_ENST00000394406.2_Missense_Mutation_p.E1277D	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1277					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATACCTTATCCTCATCATAAA	0.438													A	35563703	C	A	35563703	3	1	364	1	0	0	0	0	1	0	0	0	106	680	24	4	3309	4	ACACA	17	35563703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50999	35563703	45631507	12323	35825											
ACACA	31	broad.mit.edu	37	chr17	35600310	35600310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgggaaactgacagaGgactgatgtgatgttgctag	10	10	15	6	0	0	4	0	3	0	1	0	6	0	6	0	3	2	3	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35600310G>A	ENST00000353139.5	-	22	3389	c.2908C>T	c.(2908-2910)Ctc>Ttc	p.L970F	ACACA_ENST00000335166.5_Missense_Mutation_p.L855F|ACACA_ENST00000360679.3_Missense_Mutation_p.L875F|ACACA_ENST00000394406.2_Missense_Mutation_p.L933F	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	933					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	AACTGACAGAGGACTGATGTG	0.433													A	35600310	G	A	35600310	3	1	364	1	0	0	0	0	1	0	0	0	106	1000	35	2	4383	2	ACACA	17	35600310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36607	35600310	45594900	12324	35826											
ACACA	31	broad.mit.edu	37	chr17	35601596	35601596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaacactcgatggagtttctCgcctctgagtgccgtgctct	6	12	11	12	3	3	1	0	1	3	0	5	4	3	2	2	1	3	2	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35601596C>T	ENST00000353139.5	-	21	3131	c.2650G>A	c.(2650-2652)Gag>Aag	p.E884K	ACACA_ENST00000335166.5_Missense_Mutation_p.E769K|ACACA_ENST00000360679.3_Missense_Mutation_p.E789K|ACACA_ENST00000394406.2_Missense_Mutation_p.E847K	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	847					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TGGAGTTTCTCGCCTCTGAGT	0.453													T	35601596	C	T	35601596	3	4	364	1	0	0	0	0	1	0	0	0	106	893	31	1	4645	1	ACACA	17	35601596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1286	35601596	45593614	12325	35827											
ACACA	31	broad.mit.edu	37	chr17	35641812	35641812	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgaaatctcgttgaGaatctattttctttctgtct	9	17	6	9	1	5	2	0	2	5	1	6	3	5	2	1	0	0	1	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35641812G>T	ENST00000353139.5	-	4	879	c.398C>A	c.(397-399)tCt>tAt	p.S133Y	ACACA_ENST00000335166.5_Missense_Mutation_p.S18Y|ACACA_ENST00000416895.1_3'UTR|ACACA_ENST00000360679.3_Missense_Mutation_p.S38Y|ACACA_ENST00000394406.2_Missense_Mutation_p.S96Y	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	96	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATCTCGTTGAGAATCTATTTT	0.388													T	35641812	G	T	35641812	3	4	364	1	0	0	0	0	1	0	0	0	106	942	33	4	6965	4	ACACA	17	35641812	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40216	35641812	45553398	12326	35828											
DUSP14	11072	broad.mit.edu	37	chr17	35872424	35872424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggactctcatggcccctcGgatgatttccgagggagaca	10	8	12	11	2	1	2	1	1	1	1	4	6	2	4	3	4	0	0	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35872424G>A	ENST00000487847.1	+	2	1028	c.50G>A	c.(49-51)cGg>cAg	p.R17Q	DUSP14_ENST00000394386.1_Missense_Mutation_p.R17Q|DUSP14_ENST00000394389.4_Missense_Mutation_p.R17Q			O95147	DUS14_HUMAN	dual specificity phosphatase 14	17							MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|urinary_tract(1)	9		Breast(25;0.00637)|Ovarian(249;0.15)				ATGGCCCCTCGGATGATTTCC	0.567													A	35872424	G	A	35872424	3	1	364	1	0	0	0	0	1	0	0	0	4853	1116	39	1	52	1	DUSP14	17	35872424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	230612	35872424	45322786	12327	35829											
SYNRG	11276	broad.mit.edu	37	chr17	35896177	35896177	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctcactgcacactgcagtGgcttttatccccagctccac	7	12	6	16	0	1	0	1	0	1	0	4	0	3	0	3	1	3	4	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35896177G>T	ENST00000339208.6	-	19	3710	c.3570C>A	c.(3568-3570)gcC>gcA	p.A1190A	SYNRG_ENST00000591288.1_Silent_p.A984A|SYNRG_ENST00000345615.4_Silent_p.A1112A|SYNRG_ENST00000394378.2_Silent_p.A1112A|SYNRG_ENST00000346661.4_Silent_p.A1190A|SYNRG_ENST00000585472.1_Silent_p.A1111A|SYNRG_ENST00000502449.2_Silent_p.A1067A	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1190					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACACTGCAGTGGCTTTTATCC	0.498													T	35896177	G	T	35896177	2	4	364	1	0	0	0	0	0	0	0	1	15557	1335	47	4		4	SYNRG	17	35896177	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23753	35896177	45299033	12328	35830											
SYNRG	11276	broad.mit.edu	37	chr17	35900533	35900533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcggatgacgggcagggcGggcttctcattcagagtatt	7	11	14	9	3	3	2	2	1	2	1	5	3	3	3	0	4	0	3	0	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900533G>A	ENST00000339208.6	-	16	3455	c.3315C>T	c.(3313-3315)ccC>ccT	p.P1105P	SYNRG_ENST00000591288.1_Silent_p.P899P|SYNRG_ENST00000345615.4_Silent_p.P1027P|SYNRG_ENST00000394378.2_Silent_p.P1027P|SYNRG_ENST00000346661.4_Silent_p.P1105P|SYNRG_ENST00000585472.1_Silent_p.P1026P|SYNRG_ENST00000502449.2_Silent_p.P982P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1105					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CGGGCAGGGCGGGCTTCTCAT	0.522													A	35900533	G	A	35900533	2	1	364	1	0	0	0	0	0	0	0	1	15557	1103	39	1		1	SYNRG	17	35900533	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4356	35900533	45294677	12329	35831											
SYNRG	11276	broad.mit.edu	37	chr17	35900587	35900587	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggctgctccaaagctggAgaaggagaagaacggcttat	15	6	13	7	1	0	3	0	0	0	3	1	5	1	3	1	4	3	4	1	4	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35900587A>G	ENST00000339208.6	-	16	3401	c.3261T>C	c.(3259-3261)tcT>tcC	p.S1087S	SYNRG_ENST00000591288.1_Silent_p.S881S|SYNRG_ENST00000345615.4_Silent_p.S1009S|SYNRG_ENST00000394378.2_Silent_p.S1009S|SYNRG_ENST00000346661.4_Silent_p.S1087S|SYNRG_ENST00000585472.1_Silent_p.S1008S|SYNRG_ENST00000502449.2_Silent_p.S964S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1087					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCAAAGCTGGAGAAGGAGAAG	0.498													G	35900587	A	G	35900587	2	3	364	1	0	0	0	0	0	0	0	1	15557	291	11	3		3	SYNRG	17	35900587	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	54	35900587	45294623	12330	35832											
SYNRG	11276	broad.mit.edu	37	chr17	35930816	35930816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccaacaaggttaatgcCcatgactggctgtccaaggc	10	9	11	11	0	0	1	0	1	0	0	2	1	2	1	3	4	2	2	3	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35930816C>T	ENST00000339208.6	-	10	1407	c.1267G>A	c.(1267-1269)Ggc>Agc	p.G423S	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000591288.1_Intron|SYNRG_ENST00000345615.4_Missense_Mutation_p.G345S|SYNRG_ENST00000394378.2_Missense_Mutation_p.G345S|SYNRG_ENST00000346661.4_Missense_Mutation_p.G423S|SYNRG_ENST00000585472.1_Missense_Mutation_p.G344S|SYNRG_ENST00000502449.2_Missense_Mutation_p.G345S	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	423					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGGTTAATGCCCATGACTGGC	0.547													T	35930816	C	T	35930816	3	4	364	1	0	0	0	0	1	0	0	0	15557	623	22	2	2802	2	SYNRG	17	35930816	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30229	35930816	45264394	12331	35833											
DDX52	11056	broad.mit.edu	37	chr17	35986132	35986132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgattcgtctactacAagccactcaacactaagaaa	15	11	4	11	1	3	2	1	1	2	1	4	2	3	2	1	0	4	0	1	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35986132A>G	ENST00000349699.2	-	8	988	c.945T>C	c.(943-945)ctT>ctC	p.L315L	DDX52_ENST00000394367.3_Silent_p.L207L	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	315	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CGTCTACTACAAGCCACTCAA	0.443													G	35986132	A	G	35986132	2	3	364	1	0	0	0	0	0	0	0	1	4404	117	5	3		3	DDX52	17	35986132	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55316	35986132	45209078	12332	35834											
DDX52	11056	broad.mit.edu	37	chr17	35992283	35992283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaattgggtcaggaagatCggttccttggacgtgaattt	10	12	13	6	2	1	2	1	1	0	1	3	4	2	4	1	4	1	2	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:35992283C>T	ENST00000349699.2	-	4	506	c.463G>A	c.(463-465)Gat>Aat	p.D155N	DDX52_ENST00000394367.3_Missense_Mutation_p.D47N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	155						nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				TCAGGAAGATCGGTTCCTTGG	0.388													T	35992283	C	T	35992283	3	4	364	1	0	0	0	0	1	0	0	0	4404	884	31	1	1384	1	DDX52	17	35992283	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6151	35992283	45202927	12333	35835											
GPR179	440435	broad.mit.edu	37	chr17	36483989	36483989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtagttccttcacttacCtcccagggacagatcttggc	8	11	8	14	0	2	1	1	0	1	1	4	2	4	2	4	2	1	2	4	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36483989C>A	ENST00000342292.4	-	11	5483	c.5463G>T	c.(5461-5463)gaG>gaT	p.E1821D	GPR179_ENST00000584976.1_Intron	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1821						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CTTCACTTACCTCCCAGGGAC	0.532													A	36483989	C	A	36483989	3	1	364	1	0	0	0	0	1	0	0	0	6728	680	24	4	1644	4	GPR179	17	36483989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	491706	36483989	44711221	12334	35836											
GPR179	440435	broad.mit.edu	37	chr17	36484507	36484507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacactctcccaggggcCgaccgcttcttgcttttgga	5	11	10	15	2	2	0	0	0	2	0	4	2	3	1	4	3	1	2	4	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36484507C>T	ENST00000342292.4	-	11	4965	c.4945G>A	c.(4945-4947)Ggc>Agc	p.G1649S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1649						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TCCCAGGGGCCGACCGCTTCT	0.542													T	36484507	C	T	36484507	3	4	364	1	0	0	0	0	1	0	0	0	6728	652	23	1	2162	1	GPR179	17	36484507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	518	36484507	44710703	12335	35837											
GPR179	440435	broad.mit.edu	37	chr17	36490664	36490664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgtggctcatggaaggcCgagagcacagcccgtgtggc	8	6	16	11	3	1	1	1	0	0	1	1	3	1	2	2	4	3	2	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36490664C>T	ENST00000342292.4	-	8	1727	c.1707G>A	c.(1705-1707)tcG>tcA	p.S569S		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	569						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				CATGGAAGGCCGAGAGCACAG	0.642													T	36490664	C	T	36490664	2	4	364	1	0	0	0	0	0	0	0	1	6728	639	23	1		1	GPR179	17	36490664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6157	36490664	44704546	12336	35838											
GPR179	440435	broad.mit.edu	37	chr17	36499492	36499492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctccagagtagagataagCgagggcggcctcggccccct	9	6	13	13	3	1	2	0	0	1	2	3	4	1	2	4	3	1	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36499492C>T	ENST00000342292.4	-	1	201	c.181G>A	c.(181-183)Gct>Act	p.A61T		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	61						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.A61T(1)		breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TAGAGATAAGCGAGGGCGGCC	0.637													T	36499492	C	T	36499492	3	4	364	1	0	0	0	0	1	0	0	0	6728	768	27	1	6966	1	GPR179	17	36499492	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8828	36499492	44695718	12337	35839											
MLLT6	4302	broad.mit.edu	37	chr17	36865496	36865496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgcatgacctgtaaccGccatggatgtcgacaagctt	10	9	10	12	2	0	1	0	1	0	0	1	3	0	2	4	1	4	3	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36865496G>A	ENST00000325718.7	+	5	516	c.425G>A	c.(424-426)cGc>cAc	p.R142H	MLLT6_ENST00000378137.5_Missense_Mutation_p.R142H	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	142					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					ACCTGTAACCGCCATGGATGT	0.637			T	MLL	AL								A	36865496	G	A	36865496	3	1	364	1	0	0	0	0	1	0	0	0	9705	1087	38	1	443	1	MLLT6	17	36865496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	366004	36865496	44329714	12338	35840											
MLLT6	4302	broad.mit.edu	37	chr17	36873734	36873734	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacagtggcgggatgctGcgggctgtctgcagcacccc	5	7	14	15	2	1	0	0	0	1	0	2	1	2	1	3	3	4	4	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36873734G>A	ENST00000325718.7	+	11	1792	c.1701G>A	c.(1699-1701)ctG>ctA	p.L567L	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	567					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GCGGGATGCTGCGGGCTGTCT	0.662			T	MLL	AL								A	36873734	G	A	36873734	2	1	364	1	0	0	0	0	0	0	0	1	9705	1306	46	2		2	MLLT6	17	36873734	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8238	36873734	44321476	12339	35841											
MLLT6	4302	broad.mit.edu	37	chr17	36876694	36876694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagagcagatcctgaGcctgacggccaaaaaggagc	13	4	13	11	1	0	4	0	2	0	2	1	5	1	5	3	2	4	3	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:36876694G>A	ENST00000325718.7	+	15	2316	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N		NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	742	Leucine-zipper.				regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CAGATCCTGAGCCTGACGGCC	0.647			T	MLL	AL								A	36876694	G	A	36876694	3	1	364	1	0	0	0	0	1	0	0	0	9705	971	34	2	2283	2	MLLT6	17	36876694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2960	36876694	44318516	12340	35842											
FBXO47	494188	broad.mit.edu	37	chr17	37111187	37111187	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatttaaagcaggaaacCtgtaaagaaaacaatgttaa	20	10	7	4	0	0	2	0	1	0	1	0	3	0	3	1	1	3	3	1	1	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37111187C>A	ENST00000378079.2	-	5	629		c.e5-1			NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47											NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						AGCAGGAAACCTGTAAAGAAA	0.333													A	37111187	C	A	37111187	5	1	364	1	0	0	0	0	0	0	1	0	5805	695	24	4	957	4	FBXO47	17	37111187	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234493	37111187	44084023	12341	35843											
FBXO47	494188	broad.mit.edu	37	chr17	37118182	37118182	+	Silent	SNP	C	C	T																															tcttgtctcctgtcaggcagCtcaaggttatgaaagtcctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118182C>T	ENST00000378079.2	-	3	499	c.300G>A	c.(298-300)gaG>gaA	p.E100E		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	100										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TGTCAGGCAGCTCAAGGTTAT	0.383													T	37118182	C	T	37118182	2	4	364	1	0	0	0	0	0	0	0	1	5805	796	28	2		2	FBXO47	17	37118182	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6995	37118182	44077028	12342	35844	104	2									
FBXO47	494188	broad.mit.edu	37	chr17	37118187	37118187	+	Missense_Mutation	SNP	G	G	T																															tctcctgtcaggcagctcaaGgttatgaaagtcctgtagta																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37118187G>T	ENST00000378079.2	-	3	494	c.295C>A	c.(295-297)Ctt>Att	p.L99I		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	99										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						GGCAGCTCAAGGTTATGAAAG	0.398													T	37118187	G	T	37118187	3	4	364	1	0	0	0	0	1	0	0	0	5805	1000	35	4	1099	4	FBXO47	17	37118187	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5	37118187	44077023	12343	35845	104	2									
PLXDC1	57125	broad.mit.edu	37	chr17	37264440	37264440	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagttggccatcaggggCgccacatactgagtagctgt	9	10	13	9	1	1	2	1	2	0	0	1	2	1	2	2	3	2	3	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37264440C>T	ENST00000315392.4	-	5	739	c.528G>A	c.(526-528)gcG>gcA	p.A176A	PLXDC1_ENST00000539608.1_Silent_p.A103A|PLXDC1_ENST00000493200.1_5'UTR|PLXDC1_ENST00000394316.2_Silent_p.A176A|PLXDC1_ENST00000444911.2_Silent_p.A136A	NM_020405.4	NP_065138.2	Q8IUK5	PXDC1_HUMAN	plexin domain containing 1	176					angiogenesis	cytoplasm|extracellular region|integral to membrane|tight junction				kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						CCATCAGGGGCGCCACATACT	0.527													T	37264440	C	T	37264440	2	4	364	1	0	0	0	0	0	0	0	1	12194	755	27	1		1	PLXDC1	17	37264440	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	146253	37264440	43930770	12344	35846											
FBXL20	84961	broad.mit.edu	37	chr17	37455300	37455300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacttaactttcgtaaaaagCccccacatcgttttgaaata	14	12	5	10	2	0	1	0	1	0	0	2	2	0	1	2	0	2	2	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37455300C>T	ENST00000264658.6	-	5	532	c.272G>A	c.(271-273)gGc>gAc	p.G91D	FBXL20_ENST00000577399.1_Missense_Mutation_p.G93D|FBXL20_ENST00000394294.3_Missense_Mutation_p.G91D|FBXL20_ENST00000583610.1_Missense_Mutation_p.G91D	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	91						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			TCGTAAAAAGCCCCCACATCG	0.373													T	37455300	C	T	37455300	3	4	364	1	0	0	0	0	1	0	0	0	5766	739	26	2	1082	2	FBXL20	17	37455300	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190860	37455300	43739910	12345	35847											
MED1	5469	broad.mit.edu	37	chr17	37563934	37563934	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtctttgtcccggtctcGgtccctatctttgtctttta	2	19	8	12	3	4	0	0	0	4	0	8	0	6	0	2	3	0	0	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37563934G>A	ENST00000300651.6	-	17	4763	c.4540C>T	c.(4540-4542)Cga>Tga	p.R1514*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1514	Lys-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		tcccggtctcggtccctatct	0.443										HNSCC(31;0.082)			A	37563934	G	A	37563934	4	1	364	1	0	0	0	0	0	1	0	0	9500	1124	39	1	209	1	MED1	17	37563934	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108634	37563934	43631276	12346	35848											
MED1	5469	broad.mit.edu	37	chr17	37566109	37566109	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggaagtttagaagcttCttctgcaatgtctgaaagga	11	12	12	6	0	3	2	0	1	3	1	3	4	3	4	0	2	2	4	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37566109C>A	ENST00000300651.6	-	17	2588	c.2365G>T	c.(2365-2367)Gaa>Taa	p.E789*	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	789	Interaction with ESR1.|Interaction with VDR.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TTAGAAGCTTCTTCTGCAATG	0.488										HNSCC(31;0.082)			A	37566109	C	A	37566109	4	1	364	1	0	0	0	0	0	1	0	0	9500	922	32	4	2384	4	MED1	17	37566109	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2175	37566109	43629101	12347	35849											
MED1	5469	broad.mit.edu	37	chr17	37587409	37587409	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccaacacttccatgaagaAtcttatccaagggaccagca	15	7	7	12	0	1	2	0	1	1	1	3	3	3	3	4	1	3	1	4	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37587409A>C	ENST00000300651.6	-	9	831	c.608T>G	c.(607-609)aTt>aGt	p.I203S	MED1_ENST00000394287.3_Missense_Mutation_p.I203S	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	203	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		TCCATGAAGAATCTTATCCAA	0.393										HNSCC(31;0.082)			C	37587409	A	C	37587409	3	2	364	1	0	0	0	0	1	0	0	0	9500	101	4	5	4173	5	MED1	17	37587409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21300	37587409	43607801	12348	35850											
CDK12	51755	broad.mit.edu	37	chr17	37627716	37627716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctaccaactactacccCtccacctcagacaccccctt	9	8	1	23	0	2	1	1	0	1	1	3	1	3	1	8	0	4	0	8	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37627716C>A	ENST00000447079.4	+	2	1664	c.1631C>A	c.(1630-1632)cCt>cAt	p.P544H	CDK12_ENST00000430627.2_Missense_Mutation_p.P544H	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	544					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						ACTACTACCCCTCCACCTCAG	0.532			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			A	37627716	C	A	37627716	3	1	364	1	0	0	0	0	1	0	0	0	3158	681	24	4	1637	4	CDK12	17	37627716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40307	37627716	43567494	12349	35851											
NEUROD2	4761	broad.mit.edu	37	chr17	37762415	37762415	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagtagcagggcaccacCttgcgcaggttgtccagggc	7	8	15	11	1	0	0	0	0	0	0	1	1	1	1	3	4	2	5	3	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37762415C>A	ENST00000302584.4	-	2	658	c.438G>T	c.(436-438)aaG>aaT	p.K146N		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	146	Helix-loop-helix motif.				cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			AGGGCACCACCTTGCGCAGGT	0.642													A	37762415	C	A	37762415	3	1	364	1	0	0	0	0	1	0	0	0	10425	680	24	4	714	4	NEUROD2	17	37762415	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134699	37762415	43432795	12350	35852											
ERBB2	2064	broad.mit.edu	37	chr17	37865570	37865570	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcattgctcaccccacaGagatcttgaaaggaggggtc	11	9	11	10	0	3	3	2	2	1	1	4	5	3	4	2	3	1	1	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37865570G>T	ENST00000406381.2	+	6	859		c.e6-1		ERBB2_ENST00000578199.1_Splice_Site|ERBB2_ENST00000584450.1_Splice_Site|ERBB2_ENST00000269571.5_Splice_Site|ERBB2_ENST00000541774.1_Splice_Site|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000540042.1_Splice_Site|ERBB2_ENST00000584601.1_Splice_Site|ERBB2_ENST00000540147.1_Splice_Site	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2						cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TCACCCCACAGAGATCTTGAA	0.537		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			T	37865570	G	T	37865570	5	4	364	1	0	0	0	0	0	0	1	0	5247	956	33	4	453	4	ERBB2	17	37865570	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103155	37865570	43329640	12351	35853											
GRB7	2886	broad.mit.edu	37	chr17	37899152	37899152	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaattcctggggcgcaggTagtaaaggtgtacagtgagg	10	9	16	6	1	0	1	0	1	0	0	1	1	1	1	1	5	2	5	1	5	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37899152T>C	ENST00000309156.4	+	4	565	c.308T>C	c.(307-309)gTa>gCa	p.V103A	GRB7_ENST00000394209.2_Splice_Site_p.V103A|GRB7_ENST00000309185.3_Splice_Site_p.V103A|GRB7_ENST00000578702.1_Intron|GRB7_ENST00000394204.1_Splice_Site_p.V103A|GRB7_ENST00000394211.3_Splice_Site_p.V103A|GRB7_ENST00000445327.2_Splice_Site_p.V126A	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	103	Ras-associating.				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			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)			GGGGCGCAGGTAGTAAAGGTG	0.587													C	37899152	T	C	37899152	5	2	364	1	0	0	0	0	0	0	1	0	6814	1652	57	3	318	3	GRB7	17	37899152	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	33582	37899152	43296058	12352	35854											
GRB7	2886	broad.mit.edu	37	chr17	37901696	37901696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcctcagataataccCtggtggccatggacttctct	9	11	10	11	0	2	1	1	0	1	1	3	3	2	2	3	3	2	0	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37901696C>A	ENST00000309156.4	+	11	1371	c.1114C>A	c.(1114-1116)Ctg>Atg	p.L372M	GRB7_ENST00000394209.2_Missense_Mutation_p.L372M|GRB7_ENST00000309185.3_Missense_Mutation_p.L372M|GRB7_ENST00000394204.1_Missense_Mutation_p.L372M|GRB7_ENST00000394211.3_Missense_Mutation_p.L372M|GRB7_ENST00000445327.2_Missense_Mutation_p.L395M	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	372					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			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)			AGATAATACCCTGGTGGCCAT	0.617													A	37901696	C	A	37901696	3	1	364	1	0	0	0	0	1	0	0	0	6814	680	24	4	1152	4	GRB7	17	37901696	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2544	37901696	43293514	12353	35855											
GRB7	2886	broad.mit.edu	37	chr17	37902408	37902408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccccagggctttgtcCtctctttgtgccacctgcag	5	11	10	15	0	1	0	0	0	1	0	3	1	2	1	5	2	3	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37902408C>T	ENST00000309156.4	+	14	1662	c.1405C>T	c.(1405-1407)Ctc>Ttc	p.L469F	GRB7_ENST00000394209.2_Missense_Mutation_p.L469F|GRB7_ENST00000309185.3_Silent_p.S439S|GRB7_ENST00000394204.1_Silent_p.S439S|GRB7_ENST00000394211.3_Missense_Mutation_p.L469F|GRB7_ENST00000445327.2_Missense_Mutation_p.L492F	NM_005310.3	NP_005301.2	Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	469	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			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)			GGGCTTTGTCCTCTCTTTGTG	0.587													T	37902408	C	T	37902408	3	4	364	1	0	0	0	0	1	0	0	0	6814	681	24	2	1455	2	GRB7	17	37902408	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	712	37902408	43292802	12354	35856											
IKZF3	22806	broad.mit.edu	37	chr17	37922061	37922061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacttcagcagggctctGtgttctcctctggctatgtg	5	15	10	11	0	5	0	2	0	3	0	6	0	5	0	1	2	1	4	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:37922061G>A	ENST00000346872.3	-	8	1573	c.1512C>T	c.(1510-1512)caC>caT	p.H504H	IKZF3_ENST00000346243.3_Silent_p.H426H|IKZF3_ENST00000394189.2_Silent_p.H322H|IKZF3_ENST00000439167.2_Silent_p.H431H|IKZF3_ENST00000377952.2_Silent_p.H283H|IKZF3_ENST00000377945.3_Silent_p.H370H|IKZF3_ENST00000377944.3_Silent_p.H361H|IKZF3_ENST00000439016.2_Silent_p.H409H|IKZF3_ENST00000467757.1_Silent_p.H448H|IKZF3_ENST00000351680.3_Silent_p.H465H|IKZF3_ENST00000583368.1_Silent_p.H257H|IKZF3_ENST00000377958.2_Silent_p.H417H|IKZF3_ENST00000535189.1_Silent_p.H470H|IKZF3_ENST00000350532.3_Silent_p.H465H	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	504					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			GCAGGGCTCTGTGTTCTCCTC	0.483													A	37922061	G	A	37922061	2	1	364	1	0	0	0	0	0	0	0	1	7674	1368	48	2		2	IKZF3	17	37922061	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19653	37922061	43273149	12355	35857											
ZPBP2	124626	broad.mit.edu	37	chr17	38024841	38024841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattcaataagaagggctTcatttatggcaagacaggac	14	11	9	7	0	2	2	2	0	0	2	2	3	2	3	0	3	0	2	0	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38024841T>C	ENST00000348931.4	+	2	283	c.92T>C	c.(91-93)tTc>tCc	p.F31S	ZPBP2_ENST00000584588.1_Missense_Mutation_p.F31S|ZPBP2_ENST00000377940.3_Intron	NM_199321.2	NP_955353.1	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	31					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			AAGAAGGGCTTCATTTATGGC	0.522													C	38024841	T	C	38024841	3	2	364	1	0	0	0	0	1	0	0	0	18319	1783	62	3	98	3	ZPBP2	17	38024841	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	102780	38024841	43170369	12356	35858											
ZPBP2	124626	broad.mit.edu	37	chr17	38029311	38029311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagttaatccttttgcgCcggggtggaaaggtgcttgc	6	13	13	9	2	1	0	1	0	0	0	2	1	2	1	2	4	3	2	2	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38029311C>A	ENST00000377940.3	+	5	713	c.574C>A	c.(574-576)Ccg>Acg	p.P192T	ZPBP2_ENST00000348931.4_Missense_Mutation_p.P214T|ZPBP2_ENST00000584588.1_Missense_Mutation_p.P141T	NM_198844.2	NP_942141.2	Q6X784	ZPBP2_HUMAN	zona pellucida binding protein 2	214					binding of sperm to zona pellucida	extracellular region				kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	15	Colorectal(19;0.000442)		Lung(15;0.00849)|LUSC - Lung squamous cell carcinoma(15;0.171)			TCCTTTTGCGCCGGGGTGGAA	0.388													A	38029311	C	A	38029311	3	1	364	1	0	0	0	0	1	0	0	0	18319	739	26	4	662	4	ZPBP2	17	38029311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4470	38029311	43165899	12357	35859											
GSDMA	284110	broad.mit.edu	37	chr17	38133109	38133109	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttcctgctggataaagAgggtgttttccccctgcaac	9	11	10	11	0	0	1	0	0	0	1	2	3	2	2	3	2	4	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133109A>G	ENST00000301659.4	+	12	1254	c.1136A>G	c.(1135-1137)gAg>gGg	p.E379G		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	379					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CTGGATAAAGAGGGTGTTTTC	0.547													G	38133109	A	G	38133109	3	3	364	1	0	0	0	0	1	0	0	0	6871	304	11	3	1178	3	GSDMA	17	38133109	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	103798	38133109	43062101	12358	35860											
GSDMA	284110	broad.mit.edu	37	chr17	38133298	38133298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctctccttcagcagcttaCcaaggcctcctaatttgcct	7	13	5	16	0	2	0	1	0	1	0	5	0	4	0	5	1	4	2	5	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38133298C>T	ENST00000301659.4	+	12	1443	c.1325C>T	c.(1324-1326)aCc>aTc	p.T442I		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	442					apoptosis|induction of apoptosis	perinuclear region of cytoplasm				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						CAGCAGCTTACCAAGGCCTCC	0.542													T	38133298	C	T	38133298	3	4	364	1	0	0	0	0	1	0	0	0	6871	507	18	2	1367	2	GSDMA	17	38133298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189	38133298	43061912	12359	35861											
PSMD3	5709	broad.mit.edu	37	chr17	38140580	38140580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgaaacagctagagaaagCggtttcaggcaaggagccga	14	5	14	8	3	1	2	1	1	0	1	1	5	1	3	1	3	4	3	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38140580C>T	ENST00000264639.4	+	2	428	c.254C>T	c.(253-255)gCg>gTg	p.A85V	PSMD3_ENST00000541736.1_Intron	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	85					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CTAGAGAAAGCGGTTTCAGGC	0.537													T	38140580	C	T	38140580	3	4	364	1	0	0	0	0	1	0	0	0	12784	768	27	1	260	1	PSMD3	17	38140580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7282	38140580	43054630	12360	35862											
PSMD3	5709	broad.mit.edu	37	chr17	38146435	38146435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccctcagcacacagctgtCggcttcaaacagacggtgag	10	6	11	14	2	2	2	2	1	0	1	3	2	2	2	2	2	3	3	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38146435C>T	ENST00000264639.4	+	6	1140	c.966C>T	c.(964-966)gtC>gtT	p.V322V	PSMD3_ENST00000541736.1_Silent_p.V184V	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	322					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					ACACAGCTGTCGGCTTCAAAC	0.512													T	38146435	C	T	38146435	2	4	364	1	0	0	0	0	0	0	0	1	12784	871	31	1		1	PSMD3	17	38146435	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5855	38146435	43048775	12361	35863											
PSMD3	5709	broad.mit.edu	37	chr17	38151521	38151521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctacaccctaattatcCggctgcggcacaacgtgatt	10	9	9	13	3	0	1	0	1	0	0	1	2	1	2	3	3	3	2	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38151521C>T	ENST00000264639.4	+	8	1363	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	PSMD3_ENST00000541736.1_Missense_Mutation_p.R259W	NM_002809.3	NP_002800.2	O43242	PSMD3_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 3	397	PCI.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	enzyme regulator activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Colorectal(19;0.000442)					CCTAATTATCCGGCTGCGGCA	0.547													T	38151521	C	T	38151521	3	4	364	1	0	0	0	0	1	0	0	0	12784	643	23	1	1219	1	PSMD3	17	38151521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5086	38151521	43043689	12362	35864											
MED24	9862	broad.mit.edu	37	chr17	38178736	38178736	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcacaccacacggccaGcctggcaaagggttccagaa	12	3	13	13	1	0	1	0	0	0	1	1	2	1	1	4	4	1	3	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38178736G>T	ENST00000394126.1	-	21	2927	c.2509C>A	c.(2509-2511)Ctg>Atg	p.L837M	MED24_ENST00000501516.3_Splice_Site_p.L831M|MED24_ENST00000394128.2_Splice_Site_p.L812M|MED24_ENST00000356271.3_Splice_Site_p.L799M|MED24_ENST00000394127.2_Splice_Site_p.L799M			O75448	MED24_HUMAN	mediator complex subunit 24	812					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					CACACGGCCAGCCTGGCAAAG	0.622													T	38178736	G	T	38178736	5	4	364	1	0	0	0	0	0	0	1	0	9517	985	34	4	555	4	MED24	17	38178736	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27215	38178736	43016474	12363	35865											
MED24	9862	broad.mit.edu	37	chr17	38185090	38185090	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctcacttgatgaatttCcgggcgaaggatttcagctt	8	14	9	10	2	2	2	2	2	0	0	4	4	4	3	2	2	1	1	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38185090C>A	ENST00000394126.1	-	13	1891	c.1473G>T	c.(1471-1473)cgG>cgT	p.R491R	MED24_ENST00000501516.3_Silent_p.R485R|MED24_ENST00000394128.2_Silent_p.R466R|MED24_ENST00000356271.3_Silent_p.R453R|MED24_ENST00000394127.2_Silent_p.R453R			O75448	MED24_HUMAN	mediator complex subunit 24	466					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGATGAATTTCCGGGCGAAGG	0.642													A	38185090	C	A	38185090	2	1	364	1	0	0	0	0	0	0	0	1	9517	842	30	4		4	MED24	17	38185090	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6354	38185090	43010120	12364	35866											
THRA	7067	broad.mit.edu	37	chr17	38245666	38245666	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgccccaccgaactctTccccccactcttcctcgagg	6	8	7	20	3	2	0	0	0	2	0	5	3	4	0	7	1	2	0	7	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38245666T>C	ENST00000450525.2	+	9	1681	c.1190T>C	c.(1189-1191)tTc>tCc	p.F397S	THRA_ENST00000394121.4_Intron|THRA_ENST00000584985.1_Intron|THRA_ENST00000264637.4_Intron|THRA_ENST00000546243.1_Missense_Mutation_p.F397S	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	0					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	ACCGAACTCTTCCCCCCACTC	0.622													C	38245666	T	C	38245666	3	2	364	1	0	0	0	0	1	0	0	0	15973	1783	62	3	1220	3	THRA	17	38245666	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	60576	38245666	42949544	12365	35867											
NR1D1	9572	broad.mit.edu	37	chr17	38251886	38251886	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcagaccatttagggcCtcgttatgacgctgggcagc	7	9	14	11	3	0	2	0	1	0	1	1	2	0	2	2	3	1	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38251886C>A	ENST00000246672.3	-	5	1689	c.1059G>T	c.(1057-1059)gaG>gaT	p.E353D		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	353					cellular response to lipopolysaccharide|negative regulation of receptor biosynthetic process|negative regulation of toll-like receptor 4 signaling pathway|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					CATTTAGGGCCTCGTTATGAC	0.642													A	38251886	C	A	38251886	3	1	364	1	0	0	0	0	1	0	0	0	10691	680	24	4	801	4	NR1D1	17	38251886	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6220	38251886	42943324	12366	35868											
CASC3	22794	broad.mit.edu	37	chr17	38318393	38318393	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcttcgagggcaaactcagGaggaggaagtcaggtaaaag	15	6	14	6	1	3	0	2	0	1	0	4	4	3	3	0	5	1	2	0	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38318393G>T	ENST00000264645.7	+	5	821	c.595G>T	c.(595-597)Gag>Tag	p.E199*		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	199	Necessary for RNA-binding, interaction with MAGOH and localization in nucleus speckles.|Sufficient to form the EJC.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCAAACTCAGGAGGAGGAAGT	0.448													T	38318393	G	T	38318393	4	4	364	1	0	0	0	0	0	1	0	0	2687	1175	41	4	613	4	CASC3	17	38318393	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66507	38318393	42876817	12367	35869											
WIPF2	147179	broad.mit.edu	37	chr17	38420925	38420925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggcctaataccaccaGcagtacgggcatgaagcaca	12	6	9	14	2	1	1	0	1	1	0	2	1	1	1	3	2	4	4	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38420925G>A	ENST00000323571.4	+	5	737	c.497G>A	c.(496-498)aGc>aAc	p.S166N	WIPF2_ENST00000494757.1_3'UTR|WIPF2_ENST00000585043.1_Missense_Mutation_p.S166N|WIPF2_ENST00000394103.3_Intron|WIPF2_ENST00000536600.1_Intron|WIPF2_ENST00000583130.1_Missense_Mutation_p.S166N	NM_133264.4	NP_573571.1	Q8TF74	WIPF2_HUMAN	WAS/WASL interacting protein family, member 2	166						cytoplasm|cytoskeleton	actin binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	30						AATACCACCAGCAGTACGGGC	0.637										HNSCC(43;0.11)			A	38420925	G	A	38420925	3	1	364	1	0	0	0	0	1	0	0	0	17470	971	34	2	511	2	WIPF2	17	38420925	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102532	38420925	42774285	12368	35870											
TOP2A	7153	broad.mit.edu	37	chr17	38546236	38546236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttgcttgtgactgctttcGaaacaattttctcaaaatta	11	16	5	9	1	1	1	1	1	1	0	3	2	1	1	1	0	3	2	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38546236G>A	ENST00000423485.1	-	34	4606	c.4448C>T	c.(4447-4449)tCg>tTg	p.S1483L		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	1483					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	GACTGCTTTCGAAACAATTTT	0.418													A	38546236	G	A	38546236	3	1	364	1	0	0	0	0	1	0	0	0	16466	1059	37	1	155	1	TOP2A	17	38546236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125311	38546236	42648974	12369	35871											
TOP2A	7153	broad.mit.edu	37	chr17	38562686	38562686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatatttgaactggatacGatgtcttttcatatctgcaa	13	15	7	6	1	3	2	1	1	2	1	3	4	3	3	0	1	3	1	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38562686G>A	ENST00000423485.1	-	16	2061	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	635					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACTGGATACGATGTCTTTTC	0.348													A	38562686	G	A	38562686	3	1	364	1	0	0	0	0	1	0	0	0	16466	1058	37	1	2772	1	TOP2A	17	38562686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16450	38562686	42632524	12370	35872											
TOP2A	7153	broad.mit.edu	37	chr17	38563914	38563914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgatattgttaatctcagCattttccatgatctgaaatg	12	16	7	6	0	2	3	1	3	2	0	4	4	3	3	1	0	1	2	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38563914C>T	ENST00000423485.1	-	13	1671	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	505					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	TTAATCTCAGCATTTTCCATG	0.303													T	38563914	C	T	38563914	3	4	364	1	0	0	0	0	1	0	0	0	16466	710	25	2	3174	2	TOP2A	17	38563914	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1228	38563914	42631296	12371	35873											
TNS4	84951	broad.mit.edu	37	chr17	38645061	38645061	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggttcccagagaagatgagGctctcactgctgcttcgtgt	7	12	12	10	1	1	3	1	1	1	2	4	4	2	3	1	2	2	4	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38645061G>A	ENST00000254051.6	-	3	758	c.600C>T	c.(598-600)agC>agT	p.S200S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	200	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGAAGATGAGGCTCTCACTGC	0.657													A	38645061	G	A	38645061	2	1	364	1	0	0	0	0	0	0	0	1	16445	1194	42	2		2	TNS4	17	38645061	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81147	38645061	42550149	12372	35874											
CCR7	1236	broad.mit.edu	37	chr17	38711144	38711144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgttgcggaacttgacgccGatgaaggcgtacaagaaagg	12	7	14	8	5	0	3	0	2	0	1	1	5	0	4	1	3	3	2	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38711144G>A	ENST00000246657.2	-	3	1049	c.987C>T	c.(985-987)atC>atT	p.I329I	CCR7_ENST00000579344.1_Silent_p.I323I	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	329					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				ACTTGACGCCGATGAAGGCGT	0.597													A	38711144	G	A	38711144	2	1	364	1	0	0	0	0	0	0	0	1	2976	1048	37	1		1	CCR7	17	38711144	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66083	38711144	42484066	12373	35875											
SMARCE1	6605	broad.mit.edu	37	chr17	38786991	38786991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcggaatgttctcgtcGtctttcttctcctcgccttt	3	18	6	14	4	4	0	0	0	4	0	10	1	5	1	3	1	0	1	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38786991G>A	ENST00000348513.6	-	10	1782	c.1002C>T	c.(1000-1002)gaC>gaT	p.D334D	SMARCE1_ENST00000377808.4_Silent_p.D299D|SMARCE1_ENST00000580419.1_Silent_p.D299D|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000431889.2_Silent_p.D316D|SMARCE1_ENST00000544009.1_Silent_p.D264D|SMARCE1_ENST00000578044.1_Silent_p.D264D|SMARCE1_ENST00000400122.3_Silent_p.D264D	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	334	Glu-rich.				chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGTTCTCGTCGTCTTTCTTCT	0.498													A	38786991	G	A	38786991	2	1	364	1	0	0	0	0	0	0	0	1	14874	1136	40	1		1	SMARCE1	17	38786991	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75847	38786991	42408219	12374	35876											
KRT222	125113	broad.mit.edu	37	chr17	38821333	38821333	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgccctgatctcattgaGtagctgggacagttccattc	7	14	10	10	0	1	2	1	2	1	0	4	3	2	3	2	1	2	4	2	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38821333G>T	ENST00000476049.1	-	1	60	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	KRT222_ENST00000394052.3_Missense_Mutation_p.L7I			Q8N1A0	KT222_HUMAN	keratin 222	7						intermediate filament	structural molecule activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(2)|skin(1)	15						ATCTCATTGAGTAGCTGGGAC	0.488													T	38821333	G	T	38821333	3	4	364	1	0	0	0	0	1	0	0	0	8517	1029	36	4	892	4	KRT222	17	38821333	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34342	38821333	42373877	12375	35877											
KRT24	192666	broad.mit.edu	37	chr17	38859507	38859507	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attggccaagcggtcattgaGgttctgcatggtttgctttt	6	16	12	7	1	2	1	1	1	1	0	2	1	2	1	1	4	3	4	1	4	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38859507G>T	ENST00000264651.2	-	1	495	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	147	Coil 1A.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CGGTCATTGAGGTTCTGCATG	0.512													T	38859507	G	T	38859507	3	4	364	1	0	0	0	0	1	0	0	0	8519	1000	35	4	1170	4	KRT24	17	38859507	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38174	38859507	42335703	12376	35878											
KRT25	147183	broad.mit.edu	37	chr17	38906730	38906730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactccagcttctggccctcGgtctcggttctgacctggtg	3	13	11	14	2	3	1	0	1	3	0	6	1	4	1	3	4	2	2	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38906730G>A	ENST00000312150.4	-	6	1137	c.1077C>T	c.(1075-1077)acC>acT	p.T359T		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	359	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				TCTGGCCCTCGGTCTCGGTTC	0.567													A	38906730	G	A	38906730	2	1	364	1	0	0	0	0	0	0	0	1	8520	1103	39	1		1	KRT25	17	38906730	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47223	38906730	42288480	12377	35879											
KRT25	147183	broad.mit.edu	37	chr17	38911310	38911310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attgccagaaaggagcccccGctcattcacagtgaagccag	12	6	10	13	1	2	2	2	1	0	1	2	3	2	3	4	1	3	1	4	1	2	2	rs141965826		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38911310G>A	ENST00000312150.4	-	1	274	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	72	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				AGGAGCCCCCGCTCATTCACA	0.572													A	38911310	G	A	38911310	3	1	364	1	0	0	0	0	1	0	0	0	8520	1086	38	1	1170	1	KRT25	17	38911310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4580	38911310	42283900	12378	35880											
KRT26	353288	broad.mit.edu	37	chr17	38922856	38922856	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtggactctcagtgaaaGgagattgccaatttgatcca	12	11	11	7	0	1	4	1	3	1	1	3	6	2	5	2	2	1	0	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922856G>T	ENST00000335552.4	-	8	1366	c.1318C>A	c.(1318-1320)Ctt>Att	p.L440I		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	440	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTCAGTGAAAGGAGATTGCCA	0.338													T	38922856	G	T	38922856	3	4	364	1	0	0	0	0	1	0	0	0	8521	1000	35	4	92	4	KRT26	17	38922856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11546	38922856	42272354	12379	35881											
KRT26	353288	broad.mit.edu	37	chr17	38922877	38922877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagattgccaatttgatccaGttcctcaaccactgttttaa	11	14	6	10	0	1	2	1	1	0	1	3	3	3	2	4	0	2	2	4	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38922877G>A	ENST00000335552.4	-	8	1345	c.1297C>T	c.(1297-1299)Ctg>Ttg	p.L433L		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	433	Tail.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				ATTTGATCCAGTTCCTCAACC	0.338													A	38922877	G	A	38922877	2	1	364	1	0	0	0	0	0	0	0	1	8521	1020	36	2		2	KRT26	17	38922877	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	38922877	42272333	12380	35882											
KRT26	353288	broad.mit.edu	37	chr17	38927952	38927952	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaagatcttctatgactgaGaagtatctgctatagtcatg	12	15	8	6	0	4	3	1	2	3	2	4	4	4	3	0	0	1	2	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38927952G>A	ENST00000335552.4	-	1	462	c.414C>T	c.(412-414)ttC>ttT	p.F138F		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	138	Linker 1.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CTATGACTGAGAAGTATCTGC	0.413													A	38927952	G	A	38927952	2	1	364	1	0	0	0	0	0	0	0	1	8521	933	33	2		2	KRT26	17	38927952	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5075	38927952	42267258	12381	35883											
KRT27	342574	broad.mit.edu	37	chr17	38938542	38938542	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgtgaaggcagcacaGgaagcacttcccccgcccag	9	6	10	16	1	0	1	0	1	0	0	2	2	2	2	4	2	2	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38938542G>T	ENST00000301656.3	-	1	244	c.204C>A	c.(202-204)tcC>tcA	p.S68S		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	68	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				AGGCAGCACAGGAAGCACTTC	0.592													T	38938542	G	T	38938542	2	4	364	1	0	0	0	0	0	0	0	1	8522	987	35	4		4	KRT27	17	38938542	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10590	38938542	42256668	12382	35884											
KRT28	162605	broad.mit.edu	37	chr17	38948722	38948722	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgccgttggtcattttaGatgtcttttcttcaatggag	6	19	9	7	1	5	1	2	0	3	1	5	2	5	2	1	2	1	1	1	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38948722G>T	ENST00000306658.7	-	8	1417	c.1352C>A	c.(1351-1353)tCt>tAt	p.S451Y		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	451	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				GGTCATTTTAGATGTCTTTTC	0.373													T	38948722	G	T	38948722	3	4	364	1	0	0	0	0	1	0	0	0	8523	942	33	4	46	4	KRT28	17	38948722	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10180	38948722	42246488	12383	35885											
KRT28	162605	broad.mit.edu	37	chr17	38953513	38953513	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgttgcccccagccgcGcactgcagagccttcatctc	6	9	8	18	3	3	1	2	0	1	1	4	1	3	1	4	0	4	3	4	0	0	3	rs144466094	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:38953513G>A	ENST00000306658.7	-	4	776	c.711C>T	c.(709-711)tgC>tgT	p.C237C		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	237	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CCCCAGCCGCGCACTGCAGAG	0.557													A	38953513	G	A	38953513	2	1	364	1	0	0	0	0	0	0	0	1	8523	1079	38	1		1	KRT28	17	38953513	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4791	38953513	42241697	12384	35886											
KRT12	3859	broad.mit.edu	37	chr17	39019766	39019766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggactgtagctcgatctCcaggttctgaaaggcgcgac	8	9	13	11	3	2	1	0	1	2	0	4	4	2	2	1	3	1	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39019766C>T	ENST00000251643.4	-	5	1089	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	356	Coil 2.|Rod.				visual perception	intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)				AGCTCGATCTCCAGGTTCTGA	0.547													T	39019766	C	T	39019766	3	4	364	1	0	0	0	0	1	0	0	0	8507	864	30	2	434	2	KRT12	17	39019766	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66253	39019766	42175444	12385	35887											
KRT39	390792	broad.mit.edu	37	chr17	39116560	39116560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgagctctccagaaggctgCggtatgtggtaatctcacat	9	10	11	11	2	2	1	1	0	2	1	4	2	2	1	2	3	2	4	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39116560C>T	ENST00000355612.2	-	6	1225	c.1190G>A	c.(1189-1191)cGc>cAc	p.R397H	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	397	Coil 2.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				CAGAAGGCTGCGGTATGTGGT	0.478													T	39116560	C	T	39116560	3	4	364	1	0	0	0	0	1	0	0	0	8534	768	27	1	293	1	KRT39	17	39116560	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96794	39116560	42078650	12386	35888											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240601	39240601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagctgttgtgtgtccaGctgctgcaggccccagtgct	4	10	12	15	0	0	0	0	0	0	0	1	0	1	0	5	1	5	6	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240601G>T	ENST00000391417.4	+	1	143	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGTGTGTCCAGCTGCTGCAGG	0.647													T	39240601	G	T	39240601	3	4	364	1	0	0	0	0	1	0	0	0	8614	971	34	4	145	4	KRTAP4-7	17	39240601	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124041	39240601	41954609	12387	35889											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240752	39240752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctgctgcaagccccaGtgctgccagtctgtgtgctg	5	10	12	14	0	1	0	0	0	1	0	2	0	2	0	4	0	7	5	4	0	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39240752G>T	ENST00000391417.4	+	1	294	c.294G>T	c.(292-294)caG>caT	p.Q98H		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						gcaagccccagtgctgccagt	0.682													T	39240752	G	T	39240752	3	4	364	1	0	0	0	0	1	0	0	0	8614	1020	36	4	296	4	KRTAP4-7	17	39240752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151	39240752	41954458	12388	35890											
KRTAP4-8	728224	broad.mit.edu	37	chr17	39254125	39254125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcttgcagcagctggacAcacagcagctggggcgacag	9	4	17	11	1	0	0	0	0	0	0	0	2	0	1	0	5	5	6	0	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39254125A>G	ENST00000333822.4	-	1	268	c.212T>C	c.(211-213)gTg>gCg	p.V71A		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	71	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].					keratin filament				endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						GCAGCTGGACACACAGCAGCT	0.667													G	39254125	A	G	39254125	3	3	364	1	0	0	0	0	1	0	0	0	8615	159	6	3	349	3	KRTAP4-8	17	39254125	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13373	39254125	41941085	12389	35891											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261783	39261783	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccagctgttgtgtatccaGctgctgcaggccccagtgct	5	10	11	15	0	0	0	0	0	0	0	1	0	1	0	5	1	5	7	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39261783G>T	ENST00000391415.1	+	1	200	c.143G>T	c.(142-144)aGc>aTc	p.S48I		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	48	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						TGTGTATCCAGCTGCTGCAGG	0.652													T	39261783	G	T	39261783	3	4	364	1	0	0	0	0	1	0	0	0	8616	971	34	4	145	4	KRTAP4-9	17	39261783	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7658	39261783	41933427	12390	35892											
KRTAP4-5	85289	broad.mit.edu	37	chr17	39305720	39305720	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcagctggacacacaGcagctggggcagcagcaggt	10	4	15	12	0	0	0	0	0	0	0	0	1	0	1	0	4	7	8	0	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39305720G>A	ENST00000343246.4	-	1	334	c.300C>T	c.(298-300)tgC>tgT	p.C100C		NM_033188.3	NP_149445.3	Q9BYR2	KRA45_HUMAN	keratin associated protein 4-5	105	27 X 5 AA repeats of C-C-[GRQVCHIEK]- [SPTR]-[VSTQYC].					keratin filament				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)	6		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			tggacacacagcagctggggc	0.662													A	39305720	G	A	39305720	2	1	364	1	0	0	0	0	0	0	0	1	8613	963	34	2		2	KRTAP4-5	17	39305720	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43937	39305720	41889490	12391	35893											
KRTAP4-3	85290	broad.mit.edu	37	chr17	39323973	39323973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaaatgcagcaagccgggCggcagcaggagggctggcag	11	3	18	9	2	0	1	0	0	0	1	0	2	0	2	1	5	4	6	1	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39323973C>T	ENST00000391356.2	-	1	451	c.452G>A	c.(451-453)cGc>cAc	p.R151H		NM_033187.1	NP_149443.1	Q9BYR4	KRA43_HUMAN	keratin associated protein 4-3	151	29 X 5 AA repeats of C-C-[GIKRQVH]-[SPT]- [STA].					keratin filament		p.R151H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	12		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			GCAAGCCGGGCGGCAGCAGGA	0.632													T	39323973	C	T	39323973	3	4	364	1	0	0	0	0	1	0	0	0	8611	768	27	1	139	1	KRTAP4-3	17	39323973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18253	39323973	41871237	12392	35894											
KRTAP9-8	83901	broad.mit.edu	37	chr17	39394564	39394564	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggccaaaccagctgtggGtccagctgtggtcagagcag	8	8	15	10	0	1	1	1	0	0	1	2	1	2	1	3	3	4	3	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39394564G>C	ENST00000254072.6	+	1	268	c.261G>C	c.(259-261)ggG>ggC	p.G87G		NM_031963.2	NP_114169.2	Q9BYQ0	KRA98_HUMAN	keratin associated protein 9-8	87	15 X 5 AA repeats of C-C-[RQVSGE]- [SPSNQ]-[TASPI].					keratin filament				lung(8)|ovary(1)|prostate(1)	10		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CCAGCTGTGGGTCCAGCTGTG	0.612													C	39394564	G	C	39394564	2	2	364	1	0	0	0	0	0	0	0	1	8635	1248	44	4		4	KRTAP9-8	17	39394564	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70591	39394564	41800646	12393	35895											
KRTAP9-4	85280	broad.mit.edu	37	chr17	39406017	39406017	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcagcctacatgctgcagGaccacctgctgcaggaccac	9	7	10	15	0	1	0	1	0	0	0	1	2	1	2	4	2	6	4	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406017G>A	ENST00000334109.2	+	1	79	c.45G>A	c.(43-45)agG>agA	p.R15R		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	15	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			CATGCTGCAGGACCACCTGCT	0.602													A	39406017	G	A	39406017	2	1	364	1	0	0	0	0	0	0	0	1	8634	1165	41	2		2	KRTAP9-4	17	39406017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11453	39406017	41789193	12394	35896											
KRTAP9-4	85280	broad.mit.edu	37	chr17	39406254	39406254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgtgaccagagcagCtcctgtgcacctgtgtactg	7	10	11	13	0	0	2	0	1	0	1	2	2	2	2	4	0	5	5	4	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39406254C>T	ENST00000334109.2	+	1	316	c.282C>T	c.(280-282)agC>agT	p.S94S		NM_033191.2	NP_149461.2	Q9BYQ2	KRA94_HUMAN	keratin associated protein 9-4	94	15 X 5 AA repeats of C-C-[RQVGE]-[SPTN]- [TASPF].					keratin filament				breast(1)|large_intestine(1)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000397)			ACCAGAGCAGCTCCTGTGCAC	0.622													T	39406254	C	T	39406254	2	4	364	1	0	0	0	0	0	0	0	1	8634	796	28	2		2	KRTAP9-4	17	39406254	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	237	39406254	41788956	12395	35897											
KRT33A	3883	broad.mit.edu	37	chr17	39502798	39502798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatactcctggttctgccgCtccaggtcactgcggatctc	5	12	10	14	2	3	1	1	1	2	0	6	2	5	2	3	3	3	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39502798C>A	ENST00000007735.3	-	6	1043	c.999G>T	c.(997-999)gaG>gaT	p.E333D		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	333	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GGTTCTGCCGCTCCAGGTCAC	0.632													A	39502798	C	A	39502798	3	1	364	1	0	0	0	0	1	0	0	0	8527	796	28	4	223	4	KRT33A	17	39502798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96544	39502798	41692412	12396	35898											
KRT33A	3883	broad.mit.edu	37	chr17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgcccacctgcgtggCgaaccattgctccacttccc	7	10	8	16	2	0	1	0	0	0	1	2	2	2	1	5	1	4	1	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622													T	39503321	C	T	39503321	3	4	364	1	0	0	0	0	1	0	0	0	8527	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	523	39503321	41691889	12397	35899											
KRT33B	3884	broad.mit.edu	37	chr17	39521183	39521183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccacgttggtgatcaggctCtgcacctgggacagctggga	7	9	14	11	1	2	1	1	1	1	0	3	3	3	3	2	4	2	4	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521183C>T	ENST00000251646.3	-	6	994	c.945G>A	c.(943-945)caG>caA	p.Q315Q		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	315	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGATCAGGCTCTGCACCTGGG	0.617													T	39521183	C	T	39521183	2	4	364	1	0	0	0	0	0	0	0	1	8528	912	32	2		2	KRT33B	17	39521183	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17862	39521183	41674027	12398	35900											
KRT33B	3884	broad.mit.edu	37	chr17	39521689	39521689	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgcggttggtttccacCagggcctcatactgattcct	5	13	9	14	1	1	1	1	1	0	0	4	1	4	1	5	3	2	2	5	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39521689C>A	ENST00000251646.3	-	4	754	c.705G>T	c.(703-705)ctG>ctT	p.L235L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	235	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TGGTTTCCACCAGGGCCTCAT	0.647													A	39521689	C	A	39521689	2	1	364	1	0	0	0	0	0	0	0	1	8528	581	21	4		4	KRT33B	17	39521689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	506	39521689	41673521	12399	35901											
KRT33B	3884	broad.mit.edu	37	chr17	39522799	39522799	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggtcagacctgcacaGggtcagctcatccagaatcc	10	7	9	15	0	3	2	3	0	0	2	6	2	6	2	4	2	2	2	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39522799G>A	ENST00000251646.3	-	3	560	c.511C>T	c.(511-513)Ctg>Ttg	p.L171L		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	171	Coil 1B.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				GACCTGCACAGGGTCAGCTCA	0.602													A	39522799	G	A	39522799	2	1	364	1	0	0	0	0	0	0	0	1	8528	991	35	2		2	KRT33B	17	39522799	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1110	39522799	41672411	12400	35902											
KRT35	3886	broad.mit.edu	37	chr17	39635705	39635705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccaggatcctgcgcaggCcgttgatgtctgactccacc	7	9	10	15	2	1	2	0	2	1	0	4	3	4	3	5	2	1	2	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635705C>T	ENST00000246639.2	-	3	647	c.515G>A	c.(514-516)gGc>gAc	p.G172D	KRT35_ENST00000393989.1_Missense_Mutation_p.G202D			Q92764	KRT35_HUMAN	keratin 35	202	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CCTGCGCAGGCCGTTGATGTC	0.572													T	39635705	C	T	39635705	3	4	364	1	0	0	0	0	1	0	0	0	8530	739	26	2	782	2	KRT35	17	39635705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112906	39635705	41559505	12401	35903											
KRT35	3886	broad.mit.edu	37	chr17	39635742	39635742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagctgccgcagggacaCctccgtctcatacctgcagg	8	6	10	17	2	1	0	1	0	1	0	3	1	2	1	5	2	4	3	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39635742C>T	ENST00000246639.2	-	3	610	c.478G>A	c.(478-480)Gtg>Atg	p.V160M	KRT35_ENST00000393989.1_Missense_Mutation_p.V190M			Q92764	KRT35_HUMAN	keratin 35	190	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CGCAGGGACACCTCCGTCTCA	0.587													T	39635742	C	T	39635742	3	4	364	1	0	0	0	0	1	0	0	0	8530	507	18	2	819	2	KRT35	17	39635742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	39635742	41559468	12402	35904											
KRT36	8689	broad.mit.edu	37	chr17	39644948	39644948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcaatctgcaggaccagcCtggcattctcagacttagtc	10	11	8	12	0	3	1	2	0	2	1	5	2	3	2	2	2	2	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39644948C>A	ENST00000393986.2	-	3	550	c.338G>T	c.(337-339)aGg>aTg	p.R113M	KRT36_ENST00000328119.6_Missense_Mutation_p.R163M			O76013	KRT36_HUMAN	keratin 36	163	Coil 1A.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				CAGGACCAGCCTGGCATTCTC	0.577													A	39644948	C	A	39644948	3	1	364	1	0	0	0	0	1	0	0	0	8531	681	24	4	939	4	KRT36	17	39644948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9206	39644948	41550262	12403	35905											
KRT16	3868	broad.mit.edu	37	chr17	39766626	39766626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcggcggtaggtggcaatctCctgctccagccgcgtcttca	5	9	13	14	4	3	0	1	0	2	0	5	0	4	0	3	4	2	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766626C>T	ENST00000301653.4	-	6	1301	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	413	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GTGGCAATCTCCTGCTCCAGC	0.637													T	39766626	C	T	39766626	3	4	364	1	0	0	0	0	1	0	0	0	8511	864	30	2	196	2	KRT16	17	39766626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121678	39766626	41428584	12404	35906											
KRT16	3868	broad.mit.edu	37	chr17	39766687	39766687	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggctctgctgctccatCtcacagcgtagctgggccag	5	10	11	15	1	2	0	1	0	2	0	5	0	4	0	3	2	4	5	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39766687C>A	ENST00000301653.4	-	6	1240	c.1176G>T	c.(1174-1176)gaG>gaT	p.E392D		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	392	Coil 2.|Rod.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				GCTGCTCCATCTCACAGCGTA	0.617													A	39766687	C	A	39766687	3	1	364	1	0	0	0	0	1	0	0	0	8511	912	32	4	257	4	KRT16	17	39766687	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	39766687	41428523	12405	35907											
JUP	3728	broad.mit.edu	37	chr17	39777845	39777845	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgcagcaccccccacCttgctgaagaaccaatcctc	9	7	7	18	0	0	2	0	1	0	1	2	2	1	2	7	1	4	3	7	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39777845C>A	ENST00000540235.1	-	7	1310	c.1311G>T	c.(1309-1311)aaG>aaT	p.K437N	KRT17_ENST00000311208.8_Splice_Site_p.K278N			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCCCCCACCTTGCTGAAGA	0.607													A	39777845	C	A	39777845	5	1	364	1	0	0	0	0	0	0	1	0	8030	695	24	4		4	JUP	17	39777845	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11158	39777845	41417365	12406	35908											
GAST	2520	broad.mit.edu	37	chr17	39871718	39871718	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgtgtatgtgctgatCtttgcactggctctggccgc	3	15	13	10	1	2	1	0	1	2	0	2	1	2	1	1	2	2	4	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39871718C>A	ENST00000329402.3	+	2	97	c.30C>A	c.(28-30)atC>atA	p.I10I	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	10						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			ATGTGCTGATCTTTGCACTGG	0.602													A	39871718	C	A	39871718	2	1	364	1	0	0	0	0	0	0	0	1	6306	903	32	4		4	GAST	17	39871718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93873	39871718	41323492	12407	35909											
JUP	3728	broad.mit.edu	37	chr17	39928078	39928078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccactcagtcaccttgataGgctgctccatcaggttcatc	8	11	8	14	0	4	1	4	1	0	0	6	1	5	1	3	2	1	3	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39928078G>T	ENST00000393931.3	-	2	147	c.29C>A	c.(28-30)cCt>cAt	p.P10H	JUP_ENST00000310706.5_Missense_Mutation_p.P10H|JUP_ENST00000540235.1_Missense_Mutation_p.P10H|JUP_ENST00000393930.1_Missense_Mutation_p.P10H	NM_002230.2	NP_002221.1	P14923	PLAK_HUMAN	junction plakoglobin	10					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		CACCTTGATAGGCTGCTCCAT	0.602													T	39928078	G	T	39928078	3	4	364	1	0	0	0	0	1	0	0	0	8030	1000	35	4	2260	4	JUP	17	39928078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56360	39928078	41267132	12408	35910											
FKBP10	60681	broad.mit.edu	37	chr17	39973393	39973393	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggcctcatgggcatgtGtgtcaacgagcggcgacgcc	7	6	15	13	5	2	0	2	0	0	0	2	3	2	0	3	3	2	1	3	3	1	0	rs137853882		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:39973393G>A	ENST00000321562.4	+	2	433	c.329G>A	c.(328-330)tGt>tAt	p.C110Y		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	110	PPIase FKBP-type 1.		Missing (in OI6).		protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		ATGGGCATGTGTGTCAACGAG	0.662													A	39973393	G	A	39973393	3	1	364	1	0	0	0	0	1	0	0	0	5951	1377	48	2	335	2	FKBP10	17	39973393	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45315	39973393	41221817	12409	35911											
KLHL10	317719	broad.mit.edu	37	chr17	40001975	40001975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagaggagtgatgcaagcGccacaacactttatgggaag	15	6	12	8	1	0	2	0	1	0	1	0	4	0	4	1	2	4	1	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40001975G>A	ENST00000293303.4	+	3	1435	c.1282G>A	c.(1282-1284)Gcc>Acc	p.A428T		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	428						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGATGCAAGCGCCACAACACT	0.498													A	40001975	G	A	40001975	3	1	364	1	0	0	0	0	1	0	0	0	8424	1087	38	1	1292	1	KLHL10	17	40001975	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28582	40001975	41193235	12410	35912											
KLHL10	317719	broad.mit.edu	37	chr17	40004288	40004288	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtttaatcctcgtagcaAttttggcatcgaggtggtgg	8	15	12	6	2	0	0	0	0	0	0	3	1	1	0	1	4	1	4	1	4	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40004288A>T	ENST00000293303.4	+	5	1709	c.1556A>T	c.(1555-1557)aAt>aTt	p.N519I		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	519						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				CCTCGTAGCAATTTTGGCATC	0.478													T	40004288	A	T	40004288	3	4	364	1	0	0	0	0	1	0	0	0	8424	101	4	5	1574	5	KLHL10	17	40004288	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2313	40004288	41190922	12411	35913											
KLHL11	55175	broad.mit.edu	37	chr17	40010060	40010060	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgatgtatctcttgcatctGtctgatgcggtccttctgcc	5	15	9	12	2	4	1	0	1	4	0	6	2	5	1	2	1	3	2	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010060G>A	ENST00000319121.3	-	2	2119	c.2059C>T	c.(2059-2061)Cag>Tag	p.Q687*		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	687						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				TCTTGCATCTGTCTGATGCGG	0.507													A	40010060	G	A	40010060	4	1	364	1	0	0	0	0	0	1	0	0	8425	1386	48	2	71	2	KLHL11	17	40010060	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5772	40010060	41185150	12412	35914											
KLHL11	55175	broad.mit.edu	37	chr17	40010251	40010251	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttccgatactgtttatcaAtatcatcactgtttttccag	9	18	4	10	1	3	0	3	0	0	0	5	1	5	0	2	0	1	2	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40010251A>C	ENST00000319121.3	-	2	1928	c.1868T>G	c.(1867-1869)aTt>aGt	p.I623S		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	623						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				CTGTTTATCAATATCATCACT	0.453													C	40010251	A	C	40010251	3	2	364	1	0	0	0	0	1	0	0	0	8425	101	4	5	262	5	KLHL11	17	40010251	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	191	40010251	41184959	12413	35915											
KLHL11	55175	broad.mit.edu	37	chr17	40011097	40011097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagaagtggggtgctggCatgtgccagattgtatattc	9	12	14	6	0	0	2	0	1	0	2	1	3	0	2	1	3	2	3	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40011097C>T	ENST00000319121.3	-	2	1082	c.1022G>A	c.(1021-1023)tGc>tAc	p.C341Y		NM_018143.1	NP_060613.1	Q9NVR0	KLH11_HUMAN	kelch-like family member 11	341						extracellular region				NS(2)|breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	17		Breast(137;0.00156)				GGGGTGCTGGCATGTGCCAGA	0.478													T	40011097	C	T	40011097	3	4	364	1	0	0	0	0	1	0	0	0	8425	710	25	2	1108	2	KLHL11	17	40011097	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	846	40011097	41184113	12414	35916											
ACLY	47	broad.mit.edu	37	chr17	40060989	40060989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaactgttaccttgaacGtggcagccacgttggtgaag	9	11	12	9	2	0	2	0	2	0	0	0	2	0	2	2	2	5	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40060989G>A	ENST00000352035.2	-	10	1188	c.1058C>T	c.(1057-1059)aCg>aTg	p.T353M	ACLY_ENST00000353196.1_Missense_Mutation_p.T353M|ACLY_ENST00000590151.1_Missense_Mutation_p.T353M|ACLY_ENST00000393896.2_Missense_Mutation_p.T353M|ACLY_ENST00000537919.1_Intron	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	353					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TACCTTGAACGTGGCAGCCAC	0.493													A	40060989	G	A	40060989	3	1	364	1	0	0	0	0	1	0	0	0	143	1145	40	1	2327	1	ACLY	17	40060989	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49892	40060989	41134221	12415	35917											
CNP	1267	broad.mit.edu	37	chr17	40120334	40120334	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagatggtgtcggctgaCgcttacaagatcacccccgg	10	7	11	13	3	1	3	1	1	0	2	2	3	1	3	3	3	1	2	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40120334C>T	ENST00000393892.3	+	2	396	c.252C>T	c.(250-252)gaC>gaT	p.D84D	CNP_ENST00000591072.1_Intron|CNP_ENST00000393888.1_Silent_p.D64D|CNP_ENST00000592446.1_3'UTR|CNP_ENST00000472031.1_Intron	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						cell killing|cyclic nucleotide catabolic process|RNA metabolic process|synaptic transmission	extracellular space|melanosome	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity|ATP binding|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TGTCGGCTGACGCTTACAAGA	0.632													T	40120334	C	T	40120334	2	4	364	1	0	0	0	0	0	0	0	1	3657	535	19	1		1	CNP	17	40120334	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59345	40120334	41074876	12416	35918											
DHX58	79132	broad.mit.edu	37	chr17	40257143	40257143	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggccaccagaaggttcaGggttccatcttggaacttct	8	11	11	11	1	3	1	1	0	2	1	4	2	4	2	3	4	1	2	3	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40257143G>T	ENST00000251642.3	-	10	1516	c.1294C>A	c.(1294-1296)Ctg>Atg	p.L432M		NM_024119.2	NP_077024.2	Q96C10	DHX58_HUMAN	DEXH (Asp-Glu-X-His) box polypeptide 58	432	Helicase C-terminal.				innate immune response	cytoplasm	ATP binding|DNA binding|helicase activity|protein binding|RNA binding|zinc ion binding			breast(2)|endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(22;9.73e-07)|all_epithelial(22;3.58e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		AGAAGGTTCAGGGTTCCATCT	0.562													T	40257143	G	T	40257143	3	4	364	1	0	0	0	0	1	0	0	0	4553	991	35	4	762	4	DHX58	17	40257143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136809	40257143	40938067	12417	35919											
KAT2A	2648	broad.mit.edu	37	chr17	40267022	40267022	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtagcccaggtagcggCtcttgggcaccttgatgtcc	6	11	13	11	1	1	2	0	2	1	0	2	2	2	2	3	3	2	4	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40267022C>A	ENST00000225916.5	-	13	1960	c.1907G>T	c.(1906-1908)aGc>aTc	p.S636I		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	636	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CAGGTAGCGGCTCTTGGGCAC	0.567													A	40267022	C	A	40267022	3	1	364	1	0	0	0	0	1	0	0	0	8039	797	28	4	630	4	KAT2A	17	40267022	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9879	40267022	40928188	12418	35920											
RAB5C	5878	broad.mit.edu	37	chr17	40280316	40280316	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgctggccaggtctgccTtgttacccgcgagtgcaatg	5	12	12	12	2	2	0	0	0	2	0	2	1	2	0	3	2	4	3	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40280316T>G	ENST00000393860.3	-	5	720	c.404A>C	c.(403-405)aAg>aCg	p.K135T	CTD-2132N18.3_ENST00000592574.1_Missense_Mutation_p.K135T|RAB5C_ENST00000346213.4_Missense_Mutation_p.K135T|RAB5C_ENST00000547517.1_Missense_Mutation_p.K168T	NM_201434.2	NP_958842.1	P51148	RAB5C_HUMAN	RAB5C, member RAS oncogene family	135					protein transport|small GTPase mediated signal transduction	early endosome membrane|melanosome|plasma membrane	GTP binding|GTPase activity|protein binding			large_intestine(1)|lung(4)|prostate(1)|skin(1)	7		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		CAGGTCTGCCTTGTTACCCGC	0.607													G	40280316	T	G	40280316	3	3	364	1	0	0	0	0	1	0	0	0	13038	1609	56	5	258	5	RAB5C	17	40280316	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13294	40280316	40914894	12419	35921											
STAT5B	6777	broad.mit.edu	37	chr17	40379676	40379676	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggccttaatgttctcCtgtggattatcaagatctac	8	15	10	8	0	3	1	1	0	2	1	4	2	3	2	2	3	1	1	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40379676C>A	ENST00000293328.3	-	3	324	c.156G>T	c.(154-156)caG>caT	p.Q52H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	52					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TAATGTTCTCCTGTGGATTAT	0.473													A	40379676	C	A	40379676	3	1	364	1	0	0	0	0	1	0	0	0	15365	680	24	4	2275	4	STAT5B	17	40379676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99360	40379676	40815534	12420	35922											
STAT3	6774	broad.mit.edu	37	chr17	40500461	40500461	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcagctccattgggaagCtgtcactgtagagctgatgg	8	9	14	10	1	1	2	1	1	0	1	2	3	2	3	2	2	3	5	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40500461C>A	ENST00000264657.5	-	2	386	c.74G>T	c.(73-75)aGc>aTc	p.S25I	STAT3_ENST00000585517.1_Missense_Mutation_p.S25I|STAT3_ENST00000404395.3_Missense_Mutation_p.S25I|STAT3_ENST00000588969.1_Missense_Mutation_p.S25I|STAT3_ENST00000389272.3_Intron	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	25					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding	p.S25N(1)		breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CATTGGGAAGCTGTCACTGTA	0.498									Hyperimmunoglobulin E Recurrent Infection Syndrome				A	40500461	C	A	40500461	3	1	364	1	0	0	0	0	1	0	0	0	15362	797	28	4	2330	4	STAT3	17	40500461	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120785	40500461	40694749	12421	35923											
PTRF	284119	broad.mit.edu	37	chr17	40557040	40557040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcggcgggcaccaggcGcgtgcccagcttgttcatgc	4	7	14	16	5	1	0	1	0	0	0	2	0	1	0	3	3	3	4	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40557040G>A	ENST00000357037.5	-	2	1257	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	280					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		GGCACCAGGCGCGTGCCCAGC	0.637													A	40557040	G	A	40557040	3	1	364	1	0	0	0	0	1	0	0	0	12903	1087	38	1	338	1	PTRF	17	40557040	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56579	40557040	40638170	12422	35924											
NAGLU	4669	broad.mit.edu	37	chr17	40696246	40696246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacccccgctgggtggccgGctcttggtgatagattcgcc	4	11	13	13	3	1	2	0	1	1	1	2	2	1	2	4	4	1	2	4	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40696246G>A	ENST00000225927.2	+	6	2323	c.2222G>A	c.(2221-2223)gGc>gAc	p.G741D	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	741						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	TGGGTGGCCGGCTCTTGGTGA	0.572													A	40696246	G	A	40696246	3	1	364	1	0	0	0	0	1	0	0	0	10219	1203	42	2	2244	2	NAGLU	17	40696246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	139206	40696246	40498964	12423	35925											
COASY	80347	broad.mit.edu	37	chr17	40714858	40714858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcatcacgcacctctatgCtggcgccgacgtccacaggc	7	9	9	16	4	3	0	2	0	1	0	4	1	4	0	3	2	1	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40714858C>A	ENST00000393818.2	+	1	674	c.218C>A	c.(217-219)gCt>gAt	p.A73D	COASY_ENST00000420359.1_Missense_Mutation_p.A73D|COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.A73D|COASY_ENST00000590958.1_Missense_Mutation_p.A102D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	73					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CACCTCTATGCTGGCGCCGAC	0.607													A	40714858	C	A	40714858	3	1	364	1	0	0	0	0	1	0	0	0	3683	797	28	4	311	4	COASY	17	40714858	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18612	40714858	40480352	12424	35926											
COASY	80347	broad.mit.edu	37	chr17	40717044	40717044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacaggaaggtcctaggCagccgggtgtttgggaataa	12	8	14	7	1	1	0	1	0	0	0	2	2	2	2	2	5	2	2	2	5	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40717044C>T	ENST00000393818.2	+	5	1737	c.1281C>T	c.(1279-1281)ggC>ggT	p.G427G	COASY_ENST00000420359.1_Silent_p.G427G|COASY_ENST00000449624.1_Silent_p.G132G|COASY_ENST00000421097.2_Silent_p.G427G|COASY_ENST00000590958.1_Silent_p.G456G	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	427	DPCK.				coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		AGGTCCTAGGCAGCCGGGTGT	0.532													T	40717044	C	T	40717044	2	4	364	1	0	0	0	0	0	0	0	1	3683	697	25	2		2	COASY	17	40717044	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2186	40717044	40478166	12425	35927											
PSMC3IP	29893	broad.mit.edu	37	chr17	40725521	40725521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctcttctggagtcacaTgattggtagctgctttaatg	7	17	9	8	0	3	1	1	1	2	0	4	2	3	2	0	2	2	3	0	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40725521T>C	ENST00000393795.3	-	5	566	c.458A>G	c.(457-459)cAt>cGt	p.H153R	PSMC3IP_ENST00000590760.1_Missense_Mutation_p.H28R|PSMC3IP_ENST00000587209.1_Missense_Mutation_p.H90R|PSMC3IP_ENST00000253789.5_Missense_Mutation_p.H141R	NM_001256015.1|NM_001256016.1|NM_016556.3	NP_001242944.1|NP_001242945.1|NP_057640.1	Q9P2W1	HOP2_HUMAN	PSMC3 interacting protein	153	DNA binding (By similarity).				DNA recombination|meiosis	nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(2)	7		all_cancers(22;0.00426)|Breast(137;0.00116)|all_epithelial(22;0.0395)		BRCA - Breast invasive adenocarcinoma(366;0.13)		TGGAGTCACATGATTGGTAGC	0.522													C	40725521	T	C	40725521	3	2	364	1	0	0	0	0	1	0	0	0	12773	1464	51	3	211	3	PSMC3IP	17	40725521	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8477	40725521	40469689	12426	35928											
TUBG2	27175	broad.mit.edu	37	chr17	40811931	40811931	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggaattcgccaccgaGggcactgaccgcaaggacgt	10	5	15	11	4	0	1	0	1	0	0	1	5	0	4	3	4	0	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40811931G>T	ENST00000251412.7	+	2	328	c.129G>T	c.(127-129)gaG>gaT	p.E43D		NM_016437.2	NP_057521.1	Q9NRH3	TBG2_HUMAN	tubulin, gamma 2	43					G2/M transition of mitotic cell cycle|microtubule-based process|protein polymerization	cytosol	GTP binding|GTPase activity|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	15		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.141)		TCGCCACCGAGGGCACTGACC	0.662													T	40811931	G	T	40811931	3	4	364	1	0	0	0	0	1	0	0	0	16867	991	35	4	135	4	TUBG2	17	40811931	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86410	40811931	40383279	12427	35929											
CNTNAP1	8506	broad.mit.edu	37	chr17	40839862	40839862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtctcatttcgcttccGcacctgggacctcaccgggc	5	9	11	16	3	2	0	2	0	1	0	5	1	3	1	4	3	0	3	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40839862G>A	ENST00000264638.4	+	8	1386	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	390	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		TTTCGCTTCCGCACCTGGGAC	0.642													A	40839862	G	A	40839862	3	1	364	1	0	0	0	0	1	0	0	0	3677	1087	38	1	1199	1	CNTNAP1	17	40839862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27931	40839862	40355348	12428	35930											
CNTNAP1	8506	broad.mit.edu	37	chr17	40840894	40840894	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacaggggtggttgctccagGttgtcccaagccagccagtc	7	8	13	13	0	0	0	0	0	0	0	3	0	2	0	4	4	3	3	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40840894G>A	ENST00000264638.4	+	10	1674	c.1457G>A	c.(1456-1458)gGt>gAt	p.G486D	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	486	Laminin G-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GTTGCTCCAGGTTGTCCCAAG	0.602													A	40840894	G	A	40840894	5	1	364	1	0	0	0	0	0	0	1	0	3677	1275	44	2	1495	2	CNTNAP1	17	40840894	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1032	40840894	40354316	12429	35931											
CNTNAP1	8506	broad.mit.edu	37	chr17	40843236	40843236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccagcctgggatccagcGctgtgcctgtggtctggacc	4	9	13	15	1	1	0	0	0	1	0	3	2	3	2	5	3	3	1	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40843236G>A	ENST00000264638.4	+	14	2358	c.2141G>A	c.(2140-2142)cGc>cAc	p.R714H	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	714	Fibrinogen C-terminal.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		GGGATCCAGCGCTGTGCCTGT	0.617													A	40843236	G	A	40843236	3	1	364	1	0	0	0	0	1	0	0	0	3677	1087	38	1	2195	1	CNTNAP1	17	40843236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2342	40843236	40351974	12430	35932											
CNTNAP1	8506	broad.mit.edu	37	chr17	40845514	40845514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagctactacacgtgtgaCtgtgacctcacggcttttga	9	13	9	10	2	1	3	1	3	0	0	1	3	1	3	1	1	3	2	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40845514C>A	ENST00000264638.4	+	18	3169	c.2952C>A	c.(2950-2952)gaC>gaA	p.D984E	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	984	EGF-like 2.				axon guidance|cell adhesion	paranode region of axon	receptor activity|receptor binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		ACACGTGTGACTGTGACCTCA	0.587													A	40845514	C	A	40845514	3	1	364	1	0	0	0	0	1	0	0	0	3677	564	20	4	3022	4	CNTNAP1	17	40845514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2278	40845514	40349696	12431	35933											
EZH1	2145	broad.mit.edu	37	chr17	40858040	40858040	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttcttaagtccacgCtggatgctgcagtttttaca	8	14	7	12	1	2	0	1	0	1	0	3	1	3	1	2	1	3	4	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40858040C>A	ENST00000428826.2	-	16	1945	c.1824G>T	c.(1822-1824)caG>caT	p.Q608H	EZH1_ENST00000592743.1_Missense_Mutation_p.Q608H|EZH1_ENST00000590783.1_5'UTR|EZH1_ENST00000590078.1_Missense_Mutation_p.Q538H|EZH1_ENST00000435174.1_Missense_Mutation_p.Q469H|EZH1_ENST00000585893.1_Missense_Mutation_p.Q568H|EZH1_ENST00000415827.2_Missense_Mutation_p.Q599H			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)	608					anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGTCCACGCTGGATGCTGC	0.542													A	40858040	C	A	40858040	3	1	364	1	0	0	0	0	1	0	0	0	5375	796	28	4	443	4	EZH1	17	40858040	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12526	40858040	40337170	12432	35934											
VPS25	84313	broad.mit.edu	37	chr17	40928262	40928262	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcattttctgtattcacaGgtttccaggagtggccagaa	9	13	9	10	0	3	1	2	0	1	1	4	2	4	2	3	3	0	2	3	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40928262G>T	ENST00000253794.2	+	5	382		c.e5-1			NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)						cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TGTATTCACAGGTTTCCAGGA	0.463													T	40928262	G	T	40928262	5	4	364	1	0	0	0	0	0	0	1	0	17298	1014	35	4	360	4	VPS25	17	40928262	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70222	40928262	40266948	12433	35935											
WNK4	65266	broad.mit.edu	37	chr17	40939405	40939405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctgcgtaaagcaagggAattggaggcactcccaccag	13	5	13	10	1	0	0	0	0	0	0	1	3	1	2	2	3	3	4	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40939405A>G	ENST00000246914.5	+	7	1607	c.1586A>G	c.(1585-1587)gAa>gGa	p.E529G	WNK4_ENST00000587705.1_3'UTR	NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	529					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		AAAGCAAGGGAATTGGAGGCA	0.627													G	40939405	A	G	40939405	3	3	364	1	0	0	0	0	1	0	0	0	17482	246	9	3	1612	3	WNK4	17	40939405	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11143	40939405	40255805	12434	35936											
WNK4	65266	broad.mit.edu	37	chr17	40947503	40947503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacctcctgctcggcccCtcccaggggaagccaggctg	6	5	11	19	1	0	0	0	0	0	0	3	1	2	1	7	4	2	2	7	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40947503C>A	ENST00000246914.5	+	15	3007	c.2986C>A	c.(2986-2988)Ctc>Atc	p.L996I		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	996					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TGCTCGGCCCCTCCCAGGGGA	0.582													A	40947503	C	A	40947503	3	1	364	1	0	0	0	0	1	0	0	0	17482	681	24	4	3044	4	WNK4	17	40947503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8098	40947503	40247707	12435	35937											
CNTD1	124817	broad.mit.edu	37	chr17	40951108	40951108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacggacccatgaggccacGatcggcctccctcgttgact	7	7	12	15	4	0	2	0	2	0	0	3	5	1	4	4	4	0	1	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40951108G>A	ENST00000588408.1	+	1	299	c.23G>A	c.(22-24)cGa>cAa	p.R8Q	CNTD1_ENST00000588527.1_Intron	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	8										central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		ATGAGGCCACGATCGGCCTCC	0.572													A	40951108	G	A	40951108	3	1	364	1	0	0	0	0	1	0	0	0	3666	1058	37	1	25	1	CNTD1	17	40951108	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3605	40951108	40244102	12436	35938											
BECN1	8678	broad.mit.edu	37	chr17	40970838	40970838	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggttctccatggtgccGccatcagatgcctccccaat	7	10	9	15	1	2	2	1	1	1	1	4	2	3	2	6	2	2	1	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40970838G>A	ENST00000361523.4	-	5	450	c.318C>T	c.(316-318)ggC>ggT	p.G106G	BECN1_ENST00000438274.3_Intron|BECN1_ENST00000590099.1_Silent_p.G106G	NM_003766.3	NP_003757.1	Q14457	BECN1_HUMAN	beclin 1, autophagy related	106					anti-apoptosis|cell cycle|cellular defense response|cytokinesis|response to virus	membrane	protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		CCATGGTGCCGCCATCAGATG	0.597													A	40970838	G	A	40970838	2	1	364	1	0	0	0	0	0	0	0	1	1401	1074	38	1		1	BECN1	17	40970838	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19730	40970838	40224372	12437	35939											
PSME3	10197	broad.mit.edu	37	chr17	40991321	40991321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgcaggaggactatcGccgcaccgtgacagagattg	9	8	12	12	3	0	2	0	1	0	1	2	5	1	4	3	2	1	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:40991321G>A	ENST00000293362.3	+	10	808	c.647G>A	c.(646-648)cGc>cAc	p.R216H	PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000545225.1_Missense_Mutation_p.R142H|PSME3_ENST00000590720.1_Missense_Mutation_p.R203H|PSME3_ENST00000592169.1_Missense_Mutation_p.R147H|PSME3_ENST00000441946.2_Missense_Mutation_p.R214H	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	203					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GAGGACTATCGCCGCACCGTG	0.468													A	40991321	G	A	40991321	3	1	364	1	0	0	0	0	1	0	0	0	12793	1087	38	1	685	1	PSME3	17	40991321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20483	40991321	40203889	12438	35940											
G6PC	2538	broad.mit.edu	37	chr17	41052903	41052903	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatgaggatggaggaaGgaatgaatgttctccatgac	15	8	14	4	0	1	3	0	3	1	0	2	8	1	8	1	5	0	1	1	5	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41052903G>T	ENST00000253801.2	+	1	89	c.10G>T	c.(10-12)Gga>Tga	p.G4*	G6PC_ENST00000585489.1_Nonsense_Mutation_p.G4*|G6PC_ENST00000592383.1_Nonsense_Mutation_p.G4*	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	4					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GATGGAGGAAGGAATGAATGT	0.502													T	41052903	G	T	41052903	4	4	364	1	0	0	0	0	0	1	0	0	6195	1001	35	4	12	4	G6PC	17	41052903	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61582	41052903	40142307	12439	35941											
G6PC	2538	broad.mit.edu	37	chr17	41063057	41063057	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctgctgctcaagggaCtgggtgtagacctcctgtgg	6	13	13	9	0	2	1	1	0	1	1	3	2	3	2	2	3	2	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41063057C>A	ENST00000253801.2	+	5	767	c.688C>A	c.(688-690)Ctg>Atg	p.L230M	G6PC_ENST00000585489.1_3'UTR|G6PC_ENST00000592383.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	230					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GCTCAAGGGACTGGGTGTAGA	0.512													A	41063057	C	A	41063057	3	1	364	1	0	0	0	0	1	0	0	0	6195	564	20	4	706	4	G6PC	17	41063057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10154	41063057	40132153	12440	35942											
RND2	8153	broad.mit.edu	37	chr17	41180611	41180611	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcacgccggggaatgcagCgatccgctcagctgtcagga	9	6	13	13	4	3	0	3	0	0	0	4	3	4	2	2	3	3	3	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41180611C>T	ENST00000544533.1	+	5	708	c.601C>T	c.(601-603)Cga>Tga	p.R201*	RND2_ENST00000587250.2_Nonsense_Mutation_p.R200*	NM_005440.4	NP_005431.1	P52198	RND2_HUMAN	Rho family GTPase 2	200					small GTPase mediated signal transduction	acrosomal membrane	GTP binding|GTPase activity			large_intestine(1)|skin(1)	2		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		GGGAATGCAGCGATCCGCTCA	0.622													T	41180611	C	T	41180611	4	4	364	1	0	0	0	0	0	1	0	0	13511	760	27	1	616	1	RND2	17	41180611	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117554	41180611	40014599	12441	35943											
BRCA1	672	broad.mit.edu	37	chr17	41201147	41201147	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaatacttactgtgccaagGgtgaatgatgaaagctcctt	12	11	9	9	0	0	3	0	3	0	0	1	3	1	3	3	1	4	1	3	1	6	3	rs80359878		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41201147G>T	ENST00000309486.4	-	20	5536	c.4509C>A	c.(4507-4509)acC>acA	p.T1503T	BRCA1_ENST00000493795.1_Silent_p.T1752T|BRCA1_ENST00000352993.3_Silent_p.T657T|BRCA1_ENST00000357654.3_Silent_p.T1799T|BRCA1_ENST00000586385.1_Silent_p.T109T|BRCA1_ENST00000354071.3_Silent_p.T1534T|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Silent_p.T290T|BRCA1_ENST00000471181.2_Silent_p.T1820T|BRCA1_ENST00000591849.1_Silent_p.T32T|BRCA1_ENST00000351666.3_Silent_p.T616T|BRCA1_ENST00000346315.3_Silent_p.T1560T|BRCA1_ENST00000491747.2_Silent_p.T695T	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1799					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		CTGTGCCAAGGGTGAATGATG	0.473			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T	41201147	G	T	41201147	2	4	364	1	0	0	0	0	0	0	0	1	1507	1219	43	4		4	BRCA1	17	41201147	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20536	41201147	39994063	12442	35944											
BRCA1	672	broad.mit.edu	37	chr17	41244542	41244542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacattgaatgttcctcaaaGttttcctctagcagattttt	10	17	6	8	0	2	2	1	1	1	1	4	3	4	2	2	0	1	3	2	0	3	7	rs80357601		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244542G>T	ENST00000309486.4	-	9	3145	c.2118C>A	c.(2116-2118)aaC>aaA	p.N706K	BRCA1_ENST00000493795.1_Missense_Mutation_p.N955K|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.N1002K|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Missense_Mutation_p.N1002K|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	1002					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTTCCTCAAAGTTTTCCTCTA	0.333			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T	41244542	G	T	41244542	3	4	364	1	0	0	0	0	1	0	0	0	1507	1020	36	4	2711	4	BRCA1	17	41244542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43395	41244542	39950668	12443	35945											
BRCA1	672	broad.mit.edu	37	chr17	41244758	41244758	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctttctgaccaaccacAggaaagcctgcagtgatatt	12	12	7	10	0	2	2	0	2	2	0	2	3	2	3	3	1	3	1	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41244758A>G	ENST00000309486.4	-	9	2929	c.1902T>C	c.(1900-1902)ccT>ccC	p.P634P	BRCA1_ENST00000493795.1_Silent_p.P883P|BRCA1_ENST00000352993.3_Intron|BRCA1_ENST00000357654.3_Silent_p.P930P|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000354071.3_Silent_p.P930P|BRCA1_ENST00000468300.1_Intron|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000471181.2_Silent_p.P930P|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000351666.3_Intron|BRCA1_ENST00000346315.3_Silent_p.P930P|BRCA1_ENST00000491747.2_Intron	NM_007297.3	NP_009228.2	P38398	BRCA1_HUMAN	breast cancer 1, early onset	930					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GACCAACCACAGGAAAGCCTG	0.388			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			G	41244758	A	G	41244758	2	3	364	1	0	0	0	0	0	0	0	1	1507	175	7	3		3	BRCA1	17	41244758	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	216	41244758	39950452	12444	35946											
NBR1	4077	broad.mit.edu	37	chr17	41347051	41347051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgccccacaacacccCtgtgggtaagaatgtcactc	11	7	10	13	0	1	2	1	0	0	2	2	3	1	2	4	1	2	1	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41347051C>A	ENST00000422280.1	+	14	2204	c.1745C>A	c.(1744-1746)cCt>cAt	p.P582H	NBR1_ENST00000542611.1_Missense_Mutation_p.P561H|NBR1_ENST00000589872.1_Missense_Mutation_p.P582H|NBR1_ENST00000389312.4_Missense_Mutation_p.P582H|NBR1_ENST00000590996.1_Missense_Mutation_p.P582H|NBR1_ENST00000341165.6_Missense_Mutation_p.P582H	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	582	ATG8 family protein-binding.				macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CACAACACCCCTGTGGGTAAG	0.418													A	41347051	C	A	41347051	3	1	364	1	0	0	0	0	1	0	0	0	10276	681	24	4	1795	4	NBR1	17	41347051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102293	41347051	39848159	12445	35947											
TMEM106A	113277	broad.mit.edu	37	chr17	41367929	41367929	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactcctccacagtggcctTtgatgaggctgatatctacc	9	11	8	13	0	1	3	0	3	1	0	3	3	3	3	4	2	2	1	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41367929T>C	ENST00000331615.3	+	5	635	c.398T>C	c.(397-399)tTt>tCt	p.F133S	TMEM106A_ENST00000536052.1_Missense_Mutation_p.F133S|TMEM106A_ENST00000541594.1_Missense_Mutation_p.F85S|TMEM106A_ENST00000592564.1_3'UTR|TMEM106A_ENST00000588659.1_Missense_Mutation_p.F133S	NM_145041.1	NP_659478.1	Q96A25	T106A_HUMAN	transmembrane protein 106A	133						integral to membrane				NS(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11		Breast(137;0.0164)		BRCA - Breast invasive adenocarcinoma(366;0.0917)		ACAGTGGCCTTTGATGAGGCT	0.542													C	41367929	T	C	41367929	3	2	364	1	0	0	0	0	1	0	0	0	16120	1841	64	3	408	3	TMEM106A	17	41367929	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	20878	41367929	39827281	12446	35948											
ARL4D	379	broad.mit.edu	37	chr17	41477481	41477481	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcctcggacaaccagggCgtgccagtgctggtgctggc	5	6	17	13	3	0	0	0	0	0	0	1	1	0	1	3	5	4	2	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41477481C>T	ENST00000320033.4	+	2	588	c.381C>T	c.(379-381)ggC>ggT	p.G127G		NM_001661.3	NP_001652.2	P49703	ARL4D_HUMAN	ADP-ribosylation factor-like 4D	127					protein secretion|small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.155)		ACAACCAGGGCGTGCCAGTGC	0.657													T	41477481	C	T	41477481	2	4	364	1	0	0	0	0	0	0	0	1	943	755	27	1		1	ARL4D	17	41477481	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	109552	41477481	39717729	12447	35949											
DHX8	1659	broad.mit.edu	37	chr17	41568556	41568556	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgttaaacctaaaacaGaaaaagaaaagctgaaggaa	22	6	8	5	0	0	3	0	1	0	2	0	4	0	4	1	1	3	3	1	1	10	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41568556G>T	ENST00000262415.3	+	4	403	c.331G>T	c.(331-333)Gaa>Taa	p.E111*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.E111*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	111						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		ACCTAAAACAGAAAAAGAAAA	0.318													T	41568556	G	T	41568556	4	4	364	1	0	0	0	0	0	1	0	0	4554	943	33	4	345	4	DHX8	17	41568556	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91075	41568556	39626654	12448	35950											
DHX8	1659	broad.mit.edu	37	chr17	41571057	41571057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttttgtgccttaggatgtgGatcaagagactggagaagat	11	13	13	4	0	1	3	1	0	0	3	1	7	1	5	1	3	1	0	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41571057G>A	ENST00000262415.3	+	8	1087	c.1015G>A	c.(1015-1017)Gat>Aat	p.D339N	DHX8_ENST00000540306.1_Missense_Mutation_p.D339N	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	339						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TTAGGATGTGGATCAAGAGAC	0.493													A	41571057	G	A	41571057	3	1	364	1	0	0	0	0	1	0	0	0	4554	1174	41	2	1045	2	DHX8	17	41571057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2501	41571057	39624153	12449	35951											
DHX8	1659	broad.mit.edu	37	chr17	41576238	41576238	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacttttagatgaggacCttgagattgaattggttgag	10	13	15	3	0	0	5	0	4	0	2	0	8	0	7	1	4	0	1	1	4	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41576238C>A	ENST00000262415.3	+	10	1381	c.1309C>A	c.(1309-1311)Ctt>Att	p.L437I	DHX8_ENST00000540306.1_Missense_Mutation_p.L437I	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	437						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		AGATGAGGACCTTGAGATTGA	0.388													A	41576238	C	A	41576238	3	1	364	1	0	0	0	0	1	0	0	0	4554	681	24	4	1347	4	DHX8	17	41576238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5181	41576238	39618972	12450	35952											
DHX8	1659	broad.mit.edu	37	chr17	41598189	41598189	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatctgggctgcagtgAggaaatgctgaccattgtat	9	12	13	7	0	1	2	0	2	1	0	1	3	1	3	1	2	3	5	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41598189A>G	ENST00000262415.3	+	20	3080	c.3008A>G	c.(3007-3009)gAg>gGg	p.E1003G	DHX8_ENST00000540306.1_Missense_Mutation_p.E1003G	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1003						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GGCTGCAGTGAGGAAATGCTG	0.478											OREG0024435	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	41598189	A	G	41598189	3	3	364	1	0	0	0	0	1	0	0	0	4554	304	11	3	3086	3	DHX8	17	41598189	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21951	41598189	39597021	12451	35953											
DHX8	1659	broad.mit.edu	37	chr17	41601029	41601029	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtgctcaccaccaaGgaatacatgcgtgaagttac	12	8	11	10	1	1	1	1	1	0	0	1	3	1	2	2	2	5	3	2	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601029G>T	ENST00000262415.3	+	23	3549	c.3477G>T	c.(3475-3477)aaG>aaT	p.K1159N	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1159						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		TCACCACCAAGGAATACATGC	0.537													T	41601029	G	T	41601029	3	4	364	1	0	0	0	0	1	0	0	0	4554	991	35	4	3567	4	DHX8	17	41601029	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2840	41601029	39594181	12452	35954											
DHX8	1659	broad.mit.edu	37	chr17	41601117	41601117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtctcagacccaactaagCtaagcaaacagaagaagcaa	19	4	8	10	0	1	3	1	0	1	3	2	3	1	3	1	1	5	3	1	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601117C>A	ENST00000262415.3	+	23	3637	c.3565C>A	c.(3565-3567)Cta>Ata	p.L1189I	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1189						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		CCCAACTAAGCTAAGCAAACA	0.517													A	41601117	C	A	41601117	3	1	364	1	0	0	0	0	1	0	0	0	4554	796	28	4	3655	4	DHX8	17	41601117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88	41601117	39594093	12453	35955											
DHX8	1659	broad.mit.edu	37	chr17	41601141	41601141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaacagaagaagcaacagCgtcttgaacccttgtacaac	16	6	8	11	1	1	3	0	1	1	2	1	3	1	3	1	0	7	3	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41601141C>T	ENST00000262415.3	+	23	3661	c.3589C>T	c.(3589-3591)Cgt>Tgt	p.R1197C	DHX8_ENST00000540306.1_Intron	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	1197						catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		GAAGCAACAGCGTCTTGAACC	0.512													T	41601141	C	T	41601141	3	4	364	1	0	0	0	0	1	0	0	0	4554	768	27	1	3679	1	DHX8	17	41601141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24	41601141	39594069	12454	35956											
ETV4	2118	broad.mit.edu	37	chr17	41610054	41610054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttacctgagtcgtaggCgaagtccgtctgttcctgtt	5	15	10	11	3	2	1	0	1	2	0	6	2	4	1	3	1	1	3	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41610054C>T	ENST00000319349.5	-	8	1097	c.799G>A	c.(799-801)Gcc>Acc	p.A267T	ETV4_ENST00000591713.1_Missense_Mutation_p.A267T|ETV4_ENST00000393664.2_Missense_Mutation_p.A267T|ETV4_ENST00000545089.1_Missense_Mutation_p.A213T|ETV4_ENST00000545954.1_Missense_Mutation_p.A228T|ETV4_ENST00000538265.1_Missense_Mutation_p.A228T	NM_001079675.2	NP_001073143.1	P43268	ETV4_HUMAN	ets variant 4	267					positive regulation of transcription, DNA-dependent	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/ETV4(6)|CANT1/ETV4(3)|TMPRSS2/ETV4(13)|DDX5_ENST00000540698/ETV4(2)|KLK2/ETV4(2)	ovary(2)|upper_aerodigestive_tract(1)	3		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.0798)		GAGTCGTAGGCGAAGTCCGTC	0.567			T	"EWSR1, TMPRSS2, DDX5, KLK2, CANT1"	"Ewing sarcoma, Prostate carcinoma"								T	41610054	C	T	41610054	3	4	364	1	0	0	0	0	1	0	0	0	5322	768	27	1	679	1	ETV4	17	41610054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8913	41610054	39585156	12455	35957											
MPP3	4356	broad.mit.edu	37	chr17	41886367	41886367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctggggacataggtggcGtttttcttttttcctgaatt	7	17	11	6	1	1	1	0	1	1	0	2	2	2	2	1	4	1	2	1	4	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41886367G>A	ENST00000398393.1	-	17	1873	c.1613C>T	c.(1612-1614)aCg>aTg	p.T538M	MPP3_ENST00000398389.4_Missense_Mutation_p.T513M			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	513	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CATAGGTGGCGTTTTTCTTTT	0.408													A	41886367	G	A	41886367	3	1	364	1	0	0	0	0	1	0	0	0	9811	1145	40	1	227	1	MPP3	17	41886367	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276313	41886367	39308843	12456	35958											
MPP3	4356	broad.mit.edu	37	chr17	41903202	41903202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggagctcatctccaacgtgGaccaggcctaggagacacag	11	5	12	13	2	2	1	1	0	1	1	3	4	2	3	3	4	2	1	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41903202G>A	ENST00000398393.1	-	7	866	c.606C>T	c.(604-606)gtC>gtT	p.V202V	MPP3_ENST00000398389.4_Silent_p.V177V			Q13368	MPP3_HUMAN	membrane protein, palmitoylated 3 (MAGUK p55 subfamily member 3)	177	PDZ.				signal transduction	cell surface|integral to plasma membrane	guanylate kinase activity			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	26		Breast(137;0.00394)		BRCA - Breast invasive adenocarcinoma(366;0.119)		CTCCAACGTGGACCAGGCCTA	0.617													A	41903202	G	A	41903202	2	1	364	1	0	0	0	0	0	0	0	1	9811	1161	41	2		2	MPP3	17	41903202	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16835	41903202	39292008	12457	35959											
MPP2	4355	broad.mit.edu	37	chr17	41955231	41955231	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgtagcttctccatggCtgtctggagctcgcggaagg	5	11	14	11	3	2	0	0	0	2	0	5	2	3	2	2	4	2	4	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41955231C>A	ENST00000269095.4	-	13	1907	c.1603G>T	c.(1603-1605)Gcc>Tcc	p.A535S	MPP2_ENST00000518766.1_Missense_Mutation_p.A580S|MPP2_ENST00000523501.1_Missense_Mutation_p.A524S|MPP2_ENST00000536246.1_Missense_Mutation_p.A524S|MPP2_ENST00000520305.1_Missense_Mutation_p.A396S|MPP2_ENST00000461854.1_Missense_Mutation_p.A559S|MPP2_ENST00000377184.3_Missense_Mutation_p.A552S	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	559	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		TTCTCCATGGCTGTCTGGAGC	0.592													A	41955231	C	A	41955231	3	1	364	1	0	0	0	0	1	0	0	0	9810	797	28	4	59	4	MPP2	17	41955231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52029	41955231	39239979	12458	35960											
MPP2	4355	broad.mit.edu	37	chr17	41957259	41957259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcgccatgctccaggtagCgcccagcacggacgtcagcc	8	6	11	16	4	1	0	1	0	0	0	3	1	2	1	4	2	4	3	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41957259C>T	ENST00000269095.4	-	11	1548	c.1244G>A	c.(1243-1245)cGc>cAc	p.R415H	MPP2_ENST00000518766.1_Missense_Mutation_p.R460H|MPP2_ENST00000523501.1_Missense_Mutation_p.R404H|MPP2_ENST00000536246.1_Missense_Mutation_p.R404H|MPP2_ENST00000520305.1_Missense_Mutation_p.R276H|MPP2_ENST00000461854.1_Missense_Mutation_p.R439H|MPP2_ENST00000377184.3_Missense_Mutation_p.R432H	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	439	Guanylate kinase-like.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CTCCAGGTAGCGCCCAGCACG	0.627											OREG0024443	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	41957259	C	T	41957259	3	4	364	1	0	0	0	0	1	0	0	0	9810	768	27	1	426	1	MPP2	17	41957259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2028	41957259	39237951	12459	35961											
MPP2	4355	broad.mit.edu	37	chr17	41975705	41975705	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagctctgcagcccccgtGgcactggggagggatcccaa	7	6	13	15	1	1	0	0	0	1	0	3	2	3	2	4	4	3	3	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:41975705G>T	ENST00000269095.4	-	3	379	c.75C>A	c.(73-75)gcC>gcA	p.A25A	MPP2_ENST00000518766.1_Silent_p.A70A|MPP2_ENST00000523501.1_Silent_p.A14A|MPP2_ENST00000473246.1_5'UTR|MPP2_ENST00000536246.1_Silent_p.A14A|MPP2_ENST00000520305.1_Intron|MPP2_ENST00000461854.1_Silent_p.A25A|MPP2_ENST00000377184.3_Silent_p.A42A	NM_001278370.1|NM_001278381.1|NM_005374.3	NP_001265299.1|NP_001265310.1|NP_005365	Q14168	MPP2_HUMAN	membrane protein, palmitoylated 2 (MAGUK p55 subfamily member 2)	25	L27 1.				signal transduction	cell surface|integral to plasma membrane|membrane fraction	guanylate kinase activity			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(4)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.00314)		BRCA - Breast invasive adenocarcinoma(366;0.12)		CAGCCCCCGTGGCACTGGGGA	0.577													T	41975705	G	T	41975705	2	4	364	1	0	0	0	0	0	0	0	1	9810	1335	47	4		4	MPP2	17	41975705	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18446	41975705	39219505	12460	35962											
TMEM101	84336	broad.mit.edu	37	chr17	42090509	42090509	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgatggcaactgtgcgCgagtacatacggacctaggc	10	7	13	11	4	0	1	0	1	0	0	0	4	0	2	2	3	4	2	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42090509C>T	ENST00000589334.1	-	4	648	c.333G>A	c.(331-333)tcG>tcA	p.S111S	TMEM101_ENST00000542039.1_Silent_p.S53S|TMEM101_ENST00000206380.3_Silent_p.S111S|TMEM101_ENST00000587529.1_Silent_p.S111S			Q96IK0	TM101_HUMAN	transmembrane protein 101	111					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		Breast(137;0.0264)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CAACTGTGCGCGAGTACATAC	0.632													T	42090509	C	T	42090509	2	4	364	1	0	0	0	0	0	0	0	1	16116	755	27	1		1	TMEM101	17	42090509	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114804	42090509	39104701	12461	35963											
LSM12	124801	broad.mit.edu	37	chr17	42113579	42113579	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccatgtgtacggactcaGgatgacagggcagcctcctt	8	9	11	13	1	1	1	1	1	0	0	3	3	3	3	4	3	2	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42113579G>C	ENST00000591247.1	-	6	907	c.585C>G	c.(583-585)tcC>tcG	p.S195S	LSM12_ENST00000585388.1_3'UTR|LSM12_ENST00000293406.3_Silent_p.S195S	NM_152344.3	NP_689557.1	Q3MHD2	LSM12_HUMAN	LSM12 homolog (S. cerevisiae)	195							protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	6		Breast(137;0.0313)|Prostate(33;0.0861)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TACGGACTCAGGATGACAGGG	0.542													C	42113579	G	C	42113579	2	2	364	1	0	0	0	0	0	0	0	1	9123	987	35	4		4	LSM12	17	42113579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23070	42113579	39081631	12462	35964											
G6PC3	92579	broad.mit.edu	37	chr17	42153059	42153059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccacaggtccatcagccTagccttcaagtggtgtgagc	8	9	10	14	0	2	1	2	1	0	0	4	1	4	1	5	2	3	0	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42153059T>C	ENST00000269097.4	+	6	920	c.689T>C	c.(688-690)cTa>cCa	p.L230P		NM_138387.3	NP_612396.1	Q9BUM1	G6PC3_HUMAN	glucose 6 phosphatase, catalytic, 3	230					gluconeogenesis|transmembrane transport	endoplasmic reticulum membrane|integral to membrane	glucose-6-phosphatase activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	11		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TCCATCAGCCTAGCCTTCAAG	0.617													C	42153059	T	C	42153059	3	2	364	1	0	0	0	0	1	0	0	0	6197	1522	53	3	711	3	G6PC3	17	42153059	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39480	42153059	39042151	12463	35965											
HDAC5	10014	broad.mit.edu	37	chr17	42168789	42168789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcatgaacttgccggtcagCgtgccaccctgccgcaggga	7	7	12	15	3	2	1	2	1	0	0	2	2	2	2	4	2	5	1	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168789C>T	ENST00000225983.6	-	11	1562	c.1239G>A	c.(1237-1239)acG>acA	p.T413T	HDAC5_ENST00000336057.5_Silent_p.T412T|HDAC5_ENST00000393622.2_Silent_p.T412T|HDAC5_ENST00000586802.1_Silent_p.T412T			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	412					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TGCCGGTCAGCGTGCCACCCT	0.682													T	42168789	C	T	42168789	2	4	364	1	0	0	0	0	0	0	0	1	7065	755	27	1		1	HDAC5	17	42168789	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15730	42168789	39026421	12464	35966											
HDAC5	10014	broad.mit.edu	37	chr17	42168852	42168852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgctgtgtcgacagcttCggggaggcctggggggtgaa	5	9	18	9	2	0	1	0	1	0	0	3	3	1	2	2	6	2	2	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42168852C>T	ENST00000225983.6	-	11	1499	c.1176G>A	c.(1174-1176)ccG>ccA	p.P392P	HDAC5_ENST00000336057.5_Silent_p.P391P|HDAC5_ENST00000393622.2_Silent_p.P391P|HDAC5_ENST00000586802.1_Silent_p.P391P			Q9UQL6	HDAC5_HUMAN	histone deacetylase 5	391					B cell differentiation|cellular response to insulin stimulus|chromatin remodeling|chromatin silencing|inflammatory response|negative regulation of cell migration involved in sprouting angiogenesis|negative regulation of myotube differentiation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	21		Breast(137;0.00637)|Prostate(33;0.0313)		BRCA - Breast invasive adenocarcinoma(366;0.118)		TCGACAGCTTCGGGGAGGCCT	0.617													T	42168852	C	T	42168852	2	4	364	1	0	0	0	0	0	0	0	1	7065	871	31	1		1	HDAC5	17	42168852	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63	42168852	39026358	12465	35967											
C17orf53	78995	broad.mit.edu	37	chr17	42225804	42225804	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtggatcttgccagaaGgggcctgtgcctgccatcca	7	9	13	12	0	1	2	0	1	1	1	2	3	2	3	5	3	3	0	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42225804G>T	ENST00000319977.4	+	3	870	c.633G>T	c.(631-633)aaG>aaT	p.K211N	C17orf53_ENST00000585683.1_Missense_Mutation_p.K211N|C17orf53_ENST00000245382.6_Missense_Mutation_p.K211N	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	211										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CTTGCCAGAAGGGGCCTGTGC	0.562													T	42225804	G	T	42225804	3	4	364	1	0	0	0	0	1	0	0	0	1878	991	35	4	643	4	C17orf53	17	42225804	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56952	42225804	38969406	12466	35968											
C17orf53	78995	broad.mit.edu	37	chr17	42226360	42226360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccgagccaaaactcgcCgtttccctggcccagctggg	7	6	10	18	3	0	0	0	0	0	0	2	1	1	0	6	2	3	2	6	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42226360C>T	ENST00000319977.4	+	3	1426	c.1189C>T	c.(1189-1191)Cgt>Tgt	p.R397C	C17orf53_ENST00000585683.1_Missense_Mutation_p.R397C|C17orf53_ENST00000245382.6_Missense_Mutation_p.R397C	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	397										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		CAAAACTCGCCGTTTCCCTGG	0.617													T	42226360	C	T	42226360	3	4	364	1	0	0	0	0	1	0	0	0	1878	652	23	1	1199	1	C17orf53	17	42226360	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	556	42226360	38968850	12467	35969											
TMUB2	79089	broad.mit.edu	37	chr17	42266537	42266537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctacctacgtagcagacagCggtagcaaccagctcctggg	10	7	11	13	2	1	1	0	0	1	1	2	1	2	1	3	2	7	5	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42266537C>T	ENST00000319511.6	+	2	773	c.123C>T	c.(121-123)agC>agT	p.S41S	TMUB2_ENST00000589856.1_Silent_p.S41S|TMUB2_ENST00000592825.1_Silent_p.S41S|TMUB2_ENST00000589184.1_Intron|TMUB2_ENST00000587989.1_Silent_p.S61S|TMUB2_ENST00000590235.1_Silent_p.S41S|TMUB2_ENST00000589785.1_Silent_p.S41S|TMUB2_ENST00000587172.1_Silent_p.S41S|TMUB2_ENST00000446571.3_Silent_p.S41S|TMUB2_ENST00000538716.2_Silent_p.S61S|TMUB2_ENST00000357984.3_Silent_p.S41S	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	61						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TAGCAGACAGCGGTAGCAACC	0.597													T	42266537	C	T	42266537	2	4	364	1	0	0	0	0	0	0	0	1	16365	767	27	1		1	TMUB2	17	42266537	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40177	42266537	38928673	12468	35970											
UBTF	7343	broad.mit.edu	37	chr17	42289051	42289051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggctgcacagcaccatgcGctctgtgctgggcacgtcct	5	9	12	15	2	1	0	0	0	1	0	2	0	2	0	2	2	4	6	2	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42289051G>A	ENST00000302904.4	-	10	1462	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	CTB-175E5.7_ENST00000586560.1_RNA|UBTF_ENST00000393606.3_Missense_Mutation_p.R287C|UBTF_ENST00000529383.1_Missense_Mutation_p.R324C|UBTF_ENST00000533177.1_Missense_Mutation_p.R287C|UBTF_ENST00000527034.1_Missense_Mutation_p.R287C|UBTF_ENST00000436088.1_Missense_Mutation_p.R324C|UBTF_ENST00000343638.5_Missense_Mutation_p.R287C|UBTF_ENST00000526094.1_Missense_Mutation_p.R287C			P17480	UBF1_HUMAN	upstream binding transcription factor, RNA polymerase I	324					positive regulation of transcription from RNA polymerase I promoter|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleolus|nucleoplasm	DNA binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(10)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.114)		AGCACCATGCGCTCTGTGCTG	0.602													A	42289051	G	A	42289051	3	1	364	1	0	0	0	0	1	0	0	0	17011	1087	38	1	1372	1	UBTF	17	42289051	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22514	42289051	38906159	12469	35971											
SLC4A1	6521	broad.mit.edu	37	chr17	42334864	42334864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggatgagccagaagcCgatccacacgcggcccacga	12	2	12	15	4	0	2	0	1	0	1	1	5	1	3	4	2	3	1	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42334864C>T	ENST00000262418.6	-	13	1635	c.1480G>A	c.(1480-1482)Ggc>Agc	p.G494S		NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	494	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity	p.G494S(1)		central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGCCAGAAGCCGATCCACACG	0.587													T	42334864	C	T	42334864	3	4	364	1	0	0	0	0	1	0	0	0	14744	652	23	1	1287	1	SLC4A1	17	42334864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45813	42334864	38860346	12470	35972											
SLC4A1	6521	broad.mit.edu	37	chr17	42335492	42335492	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccggatatcacgcaccaGgcccccgaagagctggcctg	8	4	13	16	4	1	1	1	0	0	1	1	3	1	2	5	3	1	2	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42335492G>T	ENST00000262418.6	-	11	1299	c.1144C>A	c.(1144-1146)Ctg>Atg	p.L382M	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	382					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		TCACGCACCAGGCCCCCGAAG	0.582													T	42335492	G	T	42335492	3	4	364	1	0	0	0	0	1	0	0	0	14744	991	35	4	1631	4	SLC4A1	17	42335492	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	628	42335492	38859718	12471	35973											
SLC4A1	6521	broad.mit.edu	37	chr17	42338163	42338163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttttcgtccatcaccagCtcctgcagctccacatagac	8	12	5	16	1	2	1	1	0	1	1	6	1	5	1	4	0	3	3	4	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42338163C>A	ENST00000262418.6	-	5	344	c.189G>T	c.(187-189)gaG>gaT	p.E63D	SLC4A1_ENST00000471005.1_5'UTR|AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	63					bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		CCATCACCAGCTCCTGCAGCT	0.617													A	42338163	C	A	42338163	3	1	364	1	0	0	0	0	1	0	0	0	14744	796	28	4	2610	4	SLC4A1	17	42338163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2671	42338163	38857047	12472	35974											
RUNDC3A	10900	broad.mit.edu	37	chr17	42392184	42392184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatcggactgagcgccatCgacttcaggtggggtctgcc	6	9	14	12	3	2	2	1	2	1	0	4	4	2	3	2	4	2	0	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42392184C>T	ENST00000426726.3	+	5	814	c.540C>T	c.(538-540)atC>atT	p.I180I	RUNDC3A_ENST00000225441.7_Silent_p.I180I|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Silent_p.I175I	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	180	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGAGCGCCATCGACTTCAGGT	0.612													T	42392184	C	T	42392184	2	4	364	1	0	0	0	0	0	0	0	1	13835	874	31	1		1	RUNDC3A	17	42392184	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54021	42392184	38803026	12473	35975											
GPATCH8	23131	broad.mit.edu	37	chr17	42474972	42474972	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggatgttgcaggtcctgAcctgagaagatggggtgaag	9	8	19	5	0	0	4	0	3	0	2	1	6	1	5	2	5	1	2	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42474972A>G	ENST00000434000.1	-	9	4521	c.4239T>C	c.(4237-4239)ggT>ggC	p.G1413G	GPATCH8_ENST00000591680.1_Silent_p.G1491G			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	1491						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GCAGGTCCTGACCTGAGAAGA	0.602													G	42474972	A	G	42474972	2	3	364	1	0	0	0	0	0	0	0	1	6648	262	10	3		3	GPATCH8	17	42474972	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	82788	42474972	38720238	12474	35976											
GPATCH8	23131	broad.mit.edu	37	chr17	42477443	42477443	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtgggacttcccagatcGttctttcttgctgggaaggc	5	12	13	11	2	2	1	0	0	2	1	4	3	3	3	2	4	1	2	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42477443G>A	ENST00000434000.1	-	9	2050	c.1768C>T	c.(1768-1770)Cga>Tga	p.R590*	GPATCH8_ENST00000591680.1_Nonsense_Mutation_p.R668*			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	668						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTCCCAGATCGTTCTTTCTTG	0.498													A	42477443	G	A	42477443	4	1	364	1	0	0	0	0	0	1	0	0	6648	1153	40	1	2510	1	GPATCH8	17	42477443	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2471	42477443	38717767	12475	35977											
FZD2	2535	broad.mit.edu	37	chr17	42636613	42636613	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgtcgcccgacttcacGgtctacatgatcaaatacct	10	10	7	14	4	3	1	2	1	1	0	4	2	3	1	2	1	2	1	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42636613G>A	ENST00000315323.3	+	1	1689	c.1557G>A	c.(1555-1557)acG>acA	p.T519T		NM_001466.3	NP_001457.1	Q14332	FZD2_HUMAN	frizzled family receptor 2	519					axonogenesis|brain development|canonical Wnt receptor signaling pathway|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|positive regulation of cGMP metabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|ovary(3)|prostate(8)	33		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.189)		CCGACTTCACGGTCTACATGA	0.622													A	42636613	G	A	42636613	2	1	364	1	0	0	0	0	0	0	0	1	6182	1103	39	1		1	FZD2	17	42636613	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159170	42636613	38558597	12476	35978											
DBF4B	80174	broad.mit.edu	37	chr17	42807456	42807456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccttcacggaaacccGttgactcggtaagaacctca	11	7	9	14	3	2	2	2	1	0	1	3	3	2	3	4	3	2	2	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42807456G>A	ENST00000315005.3	+	4	547	c.409G>A	c.(409-411)Gtt>Att	p.V137I	DBF4B_ENST00000398338.3_Missense_Mutation_p.V137I|DBF4B_ENST00000393547.2_Missense_Mutation_p.V137I|DBF4B_ENST00000526915.1_3'UTR	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	137					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				ACGGAAACCCGTTGACTCGGT	0.507													A	42807456	G	A	42807456	3	1	364	1	0	0	0	0	1	0	0	0	4283	1145	40	1	423	1	DBF4B	17	42807456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170843	42807456	38387754	12477	35979											
EFTUD2	9343	broad.mit.edu	37	chr17	42942371	42942371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcagcttcagctcctccttCgtcaggtggatgccaagctc	6	12	9	14	1	3	0	3	0	0	0	7	1	5	1	3	2	4	3	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42942371C>T	ENST00000426333.2	-	14	1509	c.1212G>A	c.(1210-1212)acG>acA	p.T404T	EFTUD2_ENST00000592576.1_Silent_p.T394T|EFTUD2_ENST00000402521.3_Silent_p.T369T|EFTUD2_ENST00000591382.1_Silent_p.T404T	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	404						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GCTCCTCCTTCGTCAGGTGGA	0.547											OREG0024466	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	42942371	C	T	42942371	2	4	364	1	0	0	0	0	0	0	0	1	5000	871	31	1		1	EFTUD2	17	42942371	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	134915	42942371	38252839	12478	35980											
GFAP	2670	broad.mit.edu	37	chr17	42992534	42992534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccagcttggtgggctcCttggcccgcagctggttcag	3	11	14	13	1	2	0	1	0	1	0	3	0	3	0	3	4	3	5	3	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:42992534C>A	ENST00000253408.5	-	1	386	c.321G>T	c.(319-321)aaG>aaT	p.K107N	GFAP_ENST00000435360.2_Missense_Mutation_p.K107N|GFAP_ENST00000586793.1_Missense_Mutation_p.K107N|GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	107	Linker 1.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				TGGTGGGCTCCTTGGCCCGCA	0.617													A	42992534	C	A	42992534	3	1	364	1	0	0	0	0	1	0	0	0	6393	680	24	4	1142	4	GFAP	17	42992534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50163	42992534	38202676	12479	35981											
KIF18B	146909	broad.mit.edu	37	chr17	43013610	43013610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttaaacaccagcacccgctCgtccaccacctgaaccactg	11	6	6	18	2	0	1	0	1	0	0	2	1	1	1	6	0	3	3	6	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43013610C>T	ENST00000587309.1	-	2	126	c.103G>A	c.(103-105)Gag>Aag	p.E35K	KIF18B_ENST00000339151.4_Missense_Mutation_p.E35K|KIF18B_ENST00000593135.1_Missense_Mutation_p.E35K|KIF18B_ENST00000590129.1_Missense_Mutation_p.E44K|KIF18B_ENST00000438933.2_Missense_Mutation_p.E35K	NM_001264573.1	NP_001251503.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				AGCACCCGCTCGTCCACCACC	0.647													T	43013610	C	T	43013610	3	4	364	1	0	0	0	0	1	0	0	0	8339	893	31	1	2523	1	KIF18B	17	43013610	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21076	43013610	38181600	12480	35982											
DCAKD	79877	broad.mit.edu	37	chr17	43111732	43111732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctctacgatgcgccGgtgggcagggtatcctggct	7	8	15	11	3	1	1	0	0	1	1	2	3	2	1	3	4	2	3	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43111732G>A	ENST00000452796.2	-	2	394	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	DCAKD_ENST00000310604.4_Missense_Mutation_p.R47W|DCAKD_ENST00000588295.1_5'UTR|DCAKD_ENST00000588499.1_Missense_Mutation_p.R47W|DCAKD_ENST00000342350.5_Missense_Mutation_p.R47W			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	47	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACGATGCGCCGGTGGGCAGGG	0.617													A	43111732	G	A	43111732	3	1	364	1	0	0	0	0	1	0	0	0	4313	1115	39	1	568	1	DCAKD	17	43111732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98122	43111732	38083478	12481	35983											
NMT1	4836	broad.mit.edu	37	chr17	43180480	43180480	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaatatcatcgacactttCgtggtggaggtgagtcaggg	10	10	15	6	2	2	2	2	1	0	1	4	5	2	3	0	4	0	0	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43180480C>T	ENST00000592782.1	+	10	1286	c.1155C>T	c.(1153-1155)ttC>ttT	p.F385F	NMT1_ENST00000258960.2_Silent_p.F385F			P30419	NMT1_HUMAN	N-myristoyltransferase 1	385					activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals|N-terminal protein myristoylation|protein lipoylation	actin cytoskeleton|cell junction|cytosol	glycylpeptide N-tetradecanoyltransferase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)	8		Prostate(33;0.155)				TCGACACTTTCGTGGTGGAGG	0.577													T	43180480	C	T	43180480	2	4	364	1	0	0	0	0	0	0	0	1	10579	883	31	1		1	NMT1	17	43180480	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68748	43180480	38014730	12482	35984											
PLCD3	113026	broad.mit.edu	37	chr17	43190527	43190527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtctcctgccgggcacaGtctgcgggcaccccatggat	6	8	12	15	2	3	0	1	0	2	0	4	1	3	1	4	3	2	2	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43190527G>A	ENST00000322765.5	-	14	2204	c.2091C>T	c.(2089-2091)gaC>gaT	p.D697D	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	698	C2.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	GCCGGGCACAGTCTGCGGGCA	0.627													A	43190527	G	A	43190527	2	1	364	1	0	0	0	0	0	0	0	1	12109	1020	36	2		2	PLCD3	17	43190527	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10047	43190527	38004683	12483	35985											
HEXIM1	10614	broad.mit.edu	37	chr17	43227297	43227297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatggaagaagggggtgAggaggatgggggcagcgatg	10	6	21	4	1	1	2	1	1	0	1	1	6	1	5	0	7	1	1	0	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43227297A>G	ENST00000332499.2	+	1	2614	c.740A>G	c.(739-741)gAg>gGg	p.E247G		NM_006460.2	NP_006451.1	O94992	HEXI1_HUMAN	hexamethylene bis-acetamide inducible 1	247	Autoinhibitory acidic region; in absence of 7SK snRNA interacts with the basic region preventing interaction with P-TEFb and modulating subcellular localization.				negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			breast(1)|kidney(2)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GAAGGGGGTGAGGAGGATGGG	0.637													G	43227297	A	G	43227297	3	3	364	1	0	0	0	0	1	0	0	0	7131	304	11	3	742	3	HEXIM1	17	43227297	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36770	43227297	37967913	12484	35986											
FMNL1	752	broad.mit.edu	37	chr17	43320643	43320643	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttggccatcaccctgcgGaagggcaacctgggggccga	9	5	14	13	2	1	0	1	0	0	0	1	2	1	1	4	5	3	1	4	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43320643G>T	ENST00000331495.3	+	17	2505	c.2169G>T	c.(2167-2169)cgG>cgT	p.R723R	FMNL1_ENST00000587489.1_Silent_p.R301R|FMNL1_ENST00000328118.3_Silent_p.R723R	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	723	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						TCACCCTGCGGAAGGGCAACC	0.637													T	43320643	G	T	43320643	2	4	364	1	0	0	0	0	0	0	0	1	6000	1161	41	4		4	FMNL1	17	43320643	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93346	43320643	37874567	12485	35987											
FMNL1	752	broad.mit.edu	37	chr17	43322423	43322423	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgctgagaagtacccGcaactcacaggcttccacag	11	8	9	13	1	2	1	2	1	0	1	3	2	3	1	2	1	3	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43322423G>A	ENST00000331495.3	+	21	3012	c.2676G>A	c.(2674-2676)ccG>ccA	p.P892P	FMNL1_ENST00000587489.1_Silent_p.P470P|FMNL1_ENST00000328118.3_Silent_p.P892P	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	892	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGAAGTACCCGCAACTCACAG	0.587													A	43322423	G	A	43322423	2	1	364	1	0	0	0	0	0	0	0	1	6000	1074	38	1		1	FMNL1	17	43322423	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1780	43322423	37872787	12486	35988											
MAP3K14	9020	broad.mit.edu	37	chr17	43343970	43343970	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgttccagctggagcttcGagcctcggcctggctgctcc	4	10	12	15	2	0	0	0	0	0	0	4	2	2	1	4	3	4	5	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43343970G>A	ENST00000344686.2	-	0	2617				MAP3K14-AS1_ENST00000591263.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585346.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588160.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						CTGGAGCTTCGAGCCTCGGCC	0.607													A	43343970	G	A	43343970	1	1	364	0	1	0	0	0	0	0	0	0	9323	1066	37	1		1	MAP3K14	17	43343970	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21547	43343970	37851240	12487	35989											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531164	43531164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacagcagggactccttgAtggcatctggctctggaacc	9	9	12	11	0	2	1	0	1	2	0	3	3	3	3	2	4	3	4	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531164A>G	ENST00000430334.3	-	7	2187	c.2054T>C	c.(2053-2055)aTc>aCc	p.I685T	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.I596T	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	685	PH 2.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					GGACTCCTTGATGGCATCTGG	0.567													G	43531164	A	G	43531164	3	3	364	1	0	0	0	0	1	0	0	0	12157	333	12	3	1140	3	PLEKHM1	17	43531164	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	187194	43531164	37664046	12488	35990											
PLEKHM1	9842	broad.mit.edu	37	chr17	43531380	43531380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccggtccagccagtcctcaGcttcgtcctgggaggaggcg	5	7	14	15	3	1	0	1	0	0	0	5	2	4	2	5	4	2	1	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:43531380G>A	ENST00000430334.3	-	7	1971	c.1838C>T	c.(1837-1839)gCt>gTt	p.A613V	AC091132.1_ENST00000433601.1_RNA|PLEKHM1_ENST00000421073.2_Missense_Mutation_p.A524V	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	613	PH 1.				intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					CCAGTCCTCAGCTTCGTCCTG	0.642													A	43531380	G	A	43531380	3	1	364	1	0	0	0	0	1	0	0	0	12157	971	34	2	1356	2	PLEKHM1	17	43531380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216	43531380	37663830	12489	35991											
NSF	4905	broad.mit.edu	37	chr17	44788360	44788360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccaagaagattatgcaaGttacattatgaacggtatca	18	10	7	6	1	1	3	1	1	0	2	1	3	1	3	1	1	4	3	1	1	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44788360G>A	ENST00000398238.4	+	14	1609	c.1502G>A	c.(1501-1503)aGt>aAt	p.S501N	NSF_ENST00000575068.1_Missense_Mutation_p.S496N|NSF_ENST00000225282.8_Missense_Mutation_p.S407N	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	501					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		GATTATGCAAGTTACATTATG	0.413													A	44788360	G	A	44788360	3	1	364	1	0	0	0	0	1	0	0	0	10747	1029	36	2	1556	2	NSF	17	44788360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1256980	44788360	36406850	12490	35992											
NSF	4905	broad.mit.edu	37	chr17	44791260	44791260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctttagctgcaaaaattGcagaggaatccaacttcccg	12	10	8	11	1	0	1	0	0	0	1	2	2	2	2	2	1	5	4	2	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44791260G>A	ENST00000398238.4	+	15	1776	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	NSF_ENST00000575068.1_Missense_Mutation_p.A552T|NSF_ENST00000225282.8_Missense_Mutation_p.A463T	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	557					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding			kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TGCAAAAATTGCAGAGGAATC	0.428													A	44791260	G	A	44791260	3	1	364	1	0	0	0	0	1	0	0	0	10747	1319	46	2	1727	2	NSF	17	44791260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2900	44791260	36403950	12491	35993											
NSF	4905	broad.mit.edu	37	chr17	44806225	44806225	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgtttcttttccagattaCgtccctattggccctcgatt	7	17	6	11	2	1	1	0	0	1	1	4	2	3	1	3	1	1	1	3	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44806225C>T	ENST00000398238.4	+	17	1940	c.1833C>T	c.(1831-1833)taC>taT	p.Y611Y	NSF_ENST00000575068.1_Silent_p.Y606Y|NSF_ENST00000225282.8_Silent_p.Y517Y	NM_006178.3	NP_006169.2	P46459	NSF_HUMAN	N-ethylmaleimide-sensitive factor	611					protein transport|synaptic transmission	cytosol	ATP binding|metal ion binding	p.Y611Y(1)		kidney(2)|large_intestine(1)|liver(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	14		Melanoma(429;0.203)	BRCA - Breast invasive adenocarcinoma(9;0.0257)	BRCA - Breast invasive adenocarcinoma(366;0.241)		TTCCAGATTACGTCCCTATTG	0.318													T	44806225	C	T	44806225	2	4	364	1	0	0	0	0	0	0	0	1	10747	547	19	1		1	NSF	17	44806225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14965	44806225	36388985	12492	35994											
WNT3	7473	broad.mit.edu	37	chr17	44845839	44845839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcgcagccatcgatgccGtgggaggtgacattgcaagt	10	8	14	9	3	0	2	0	1	0	1	2	4	0	3	2	2	3	2	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:44845839G>A	ENST00000225512.5	-	4	1077	c.915C>T	c.(913-915)caC>caT	p.H305H		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	305					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			CATCGATGCCGTGGGAGGTGA	0.587													A	44845839	G	A	44845839	2	1	364	1	0	0	0	0	0	0	0	1	17490	1136	40	1		1	WNT3	17	44845839	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39614	44845839	36349371	12493	35995											
CDC27	996	broad.mit.edu	37	chr17	45232100	45232100	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgtattagtgtagttttGtaaataggatccatctccag	11	15	10	5	0	1	0	0	0	1	0	3	1	2	1	2	2	0	4	2	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45232100G>A	ENST00000066544.3	-	8	988	c.895C>T	c.(895-897)Caa>Taa	p.Q299*	CDC27_ENST00000527547.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000531206.1_Nonsense_Mutation_p.Q299*|CDC27_ENST00000446365.2_Nonsense_Mutation_p.Q238*	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	299					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGTAGTTTTGTAAATAGGAT	0.388													A	45232100	G	A	45232100	4	1	364	1	0	0	0	0	0	1	0	0	3096	1386	48	2	1645	2	CDC27	17	45232100	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386261	45232100	35963110	12494	35996											
ITGB3	3690	broad.mit.edu	37	chr17	45361952	45361952	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaagctggccacccagatgCgaaagctcaccagtaacctg	12	5	9	15	1	1	1	1	0	0	1	1	2	1	1	5	1	4	3	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45361952C>T	ENST00000559488.1	+	4	521	c.505C>T	c.(505-507)Cga>Tga	p.R169*	ITGB3_ENST00000560629.1_Missense_Mutation_p.A157V|ITGB3_ENST00000571680.1_Nonsense_Mutation_p.R169*|ITGB3_ENST00000435993.2_Nonsense_Mutation_p.R122*	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	169	VWFA.		R -> Q (in alloantigen HPA-4B; dbSNP:rs5917).		activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	CACCCAGATGCGAAAGCTCAC	0.527													T	45361952	C	T	45361952	4	4	364	1	0	0	0	0	0	1	0	0	7953	760	27	1	519	1	ITGB3	17	45361952	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	129852	45361952	35833258	12495	35997											
ITGB3	3690	broad.mit.edu	37	chr17	45367564	45367564	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctagaactatagtgagcTcatcccagggaccacagttg	11	11	9	10	0	2	2	1	1	1	1	3	3	3	3	2	1	2	2	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45367564T>C	ENST00000559488.1	+	8	1065	c.1049T>C	c.(1048-1050)cTc>cCc	p.L350P	ITGB3_ENST00000560629.1_Silent_p.A338A|ITGB3_ENST00000571680.1_Missense_Mutation_p.L350P|ITGB3_ENST00000435993.2_Missense_Mutation_p.L303P	NM_000212.2	NP_000203.2	P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	350	VWFA.				activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TATAGTGAGCTCATCCCAGGG	0.493													C	45367564	T	C	45367564	3	2	364	1	0	0	0	0	1	0	0	0	7953	1551	54	3	1079	3	ITGB3	17	45367564	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5612	45367564	35827646	12496	35998											
OSBPL7	114881	broad.mit.edu	37	chr17	45885670	45885670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagggctaccagagcacgGccccatccatgttcccatag	9	6	10	16	1	0	1	0	0	0	1	2	1	2	1	6	2	2	3	6	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45885670G>A	ENST00000007414.3	-	23	2707	c.2516C>T	c.(2515-2517)gCc>gTc	p.A839V	OSBPL7_ENST00000392507.3_Missense_Mutation_p.A839V	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	839					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						CCAGAGCACGGCCCCATCCAT	0.662													A	45885670	G	A	45885670	3	1	364	1	0	0	0	0	1	0	0	0	11358	1203	42	2	16	2	OSBPL7	17	45885670	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	518106	45885670	35309540	12497	35999											
OSBPL7	114881	broad.mit.edu	37	chr17	45886548	45886548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactccgactgagcacagcGccctgcacctcgtggacatt	8	7	9	17	3	0	1	0	1	0	0	2	3	1	2	4	1	3	2	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45886548G>A	ENST00000007414.3	-	20	2255	c.2064C>T	c.(2062-2064)ggC>ggT	p.G688G	OSBPL7_ENST00000392507.3_Silent_p.G688G	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	688					lipid transport		lipid binding	p.G688G(1)		autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						TGAGCACAGCGCCCTGCACCT	0.647													A	45886548	G	A	45886548	2	1	364	1	0	0	0	0	0	0	0	1	11358	1074	38	1		1	OSBPL7	17	45886548	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	878	45886548	35308662	12498	36000											
OSBPL7	114881	broad.mit.edu	37	chr17	45890677	45890677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtcaggccgctcacactcGtaggtctcccccaggacagg	7	6	12	16	3	3	0	2	0	1	0	5	1	3	1	3	5	0	2	3	5	1	1	rs139168515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45890677G>A	ENST00000007414.3	-	16	1883	c.1692C>T	c.(1690-1692)taC>taT	p.Y564Y	OSBPL7_ENST00000392507.3_Silent_p.Y564Y	NM_145798.2	NP_665741.1	Q9BZF2	OSBL7_HUMAN	oxysterol binding protein-like 7	564					lipid transport		lipid binding			autonomic_ganglia(1)|endometrium(6)|kidney(2)|large_intestine(5)|liver(2)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCACACTCGTAGGTCTCCC	0.627													A	45890677	G	A	45890677	2	1	364	1	0	0	0	0	0	0	0	1	11358	1140	40	1		1	OSBPL7	17	45890677	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4129	45890677	35304533	12499	36001											
MRPL10	124995	broad.mit.edu	37	chr17	45904016	45904016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctcacctagcagcggcagGaatggcacagtccttaagat	11	8	11	11	1	1	1	1	0	0	1	2	2	2	2	2	3	3	4	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45904016G>T	ENST00000290208.7	-	4	1001	c.549C>A	c.(547-549)ttC>ttA	p.F183L	MRPL10_ENST00000351111.2_Missense_Mutation_p.F173L|MRPL10_ENST00000414011.1_Missense_Mutation_p.F183L			Q7Z7H8	RM10_HUMAN	mitochondrial ribosomal protein L10	173					ribosome biogenesis|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(3)|large_intestine(1)|lung(3)|ovary(1)	8						GCAGCGGCAGGAATGGCACAG	0.557													T	45904016	G	T	45904016	3	4	364	1	0	0	0	0	1	0	0	0	9851	1165	41	4	274	4	MRPL10	17	45904016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13339	45904016	35291194	12500	36002											
LRRC46	90506	broad.mit.edu	37	chr17	45914418	45914418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggggcacgagcagccacaGcccccaaggcctctgtggct	8	4	14	15	1	1	0	0	0	1	0	1	1	1	0	4	4	3	3	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45914418G>A	ENST00000269025.4	+	8	1261	c.898G>A	c.(898-900)Gcc>Acc	p.A300T		NM_033413.3	NP_219481.1	Q96FV0	LRC46_HUMAN	leucine rich repeat containing 46	300										endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	9						AGCAGCCACAGCCCCCAAGGC	0.572													A	45914418	G	A	45914418	3	1	364	1	0	0	0	0	1	0	0	0	9073	971	34	2	928	2	LRRC46	17	45914418	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10402	45914418	35280792	12501	36003											
SCRN2	90507	broad.mit.edu	37	chr17	45916866	45916866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagcacccacgcctcaGtgcggtcagccagcaggaag	9	5	11	16	2	3	0	2	0	1	0	4	1	3	1	4	2	4	2	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45916866G>A	ENST00000407215.3	-	4	581	c.500C>T	c.(499-501)aCt>aTt	p.T167I	SCRN2_ENST00000584123.1_Missense_Mutation_p.T175I|SCRN2_ENST00000290216.9_Missense_Mutation_p.T167I			Q96FV2	SCRN2_HUMAN	secernin 2	167					proteolysis		dipeptidase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	14						CCACGCCTCAGTGCGGTCAGC	0.607													A	45916866	G	A	45916866	3	1	364	1	0	0	0	0	1	0	0	0	14032	1029	36	2	815	2	SCRN2	17	45916866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2448	45916866	35278344	12502	36004											
SP6	80320	broad.mit.edu	37	chr17	45924776	45924776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccccagccgcctcctcCttggcgccctcgtgggtttt	1	10	11	19	4	0	0	0	0	0	0	3	0	2	0	8	2	1	1	8	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:45924776C>A	ENST00000536300.1	-	2	1351	c.1020G>T	c.(1018-1020)aaG>aaT	p.K340N	SP6_ENST00000342234.2_Missense_Mutation_p.K340N	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CCGCCTCCTCCTTGGCGCCCT	0.706													A	45924776	C	A	45924776	3	1	364	1	0	0	0	0	1	0	0	0	15062	680	24	4	114	4	SP6	17	45924776	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7910	45924776	35270434	12503	36005											
SKAP1	8631	broad.mit.edu	37	chr17	46262119	46262119	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcctgggaggtcagttcaAagcaggattctttcttggaa	10	13	11	7	0	4	0	2	0	2	0	5	3	5	3	1	4	1	2	1	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46262119A>C	ENST00000336915.6	-	7	602	c.533T>G	c.(532-534)tTt>tGt	p.F178C	SKAP1_ENST00000584924.1_Missense_Mutation_p.F178C	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	178	PH.				positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						GGTCAGTTCAAAGCAGGATTC	0.522													C	46262119	A	C	46262119	3	2	364	1	0	0	0	0	1	0	0	0	14449	14	1	5	570	5	SKAP1	17	46262119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	337343	46262119	34933091	12504	36006											
SKAP1	8631	broad.mit.edu	37	chr17	46423329	46423329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggccaagagtcccgCtgtgattatcatcagagctg	10	8	13	10	1	2	3	2	1	0	2	3	4	3	4	2	2	1	2	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46423329C>T	ENST00000336915.6	-	4	287	c.218G>A	c.(217-219)aGc>aAc	p.S73N	SKAP1_ENST00000584924.1_Missense_Mutation_p.S73N	NM_001075099.1|NM_003726.3	NP_001068567.1|NP_003717.3	Q86WV1	SKAP1_HUMAN	src kinase associated phosphoprotein 1	73					positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway	cytoplasm|nucleus|plasma membrane	antigen binding|protein kinase binding|SH2 domain binding			large_intestine(1)|lung(10)|prostate(2)|skin(4)|urinary_tract(1)	18						AAGAGTCCCGCTGTGATTATC	0.448													T	46423329	C	T	46423329	3	4	364	1	0	0	0	0	1	0	0	0	14449	797	28	2	897	2	SKAP1	17	46423329	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161210	46423329	34771881	12505	36007											
HOXB4	3214	broad.mit.edu	37	chr17	46654355	46654355	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggcggtccgagagcgcttgGgctccccgccggcgtaattg	5	7	16	13	6	0	1	0	0	0	1	2	2	2	1	4	4	1	3	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46654355G>T	ENST00000332503.5	-	2	2276	c.485C>A	c.(484-486)cCc>cAc	p.P162H	HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000465120.3_Intron|HOXB3_ENST00000489475.1_Intron|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000476342.1_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGAGCGCTTGGGCTCCCCGCC	0.582													T	46654355	G	T	46654355	3	4	364	1	0	0	0	0	1	0	0	0	7358	1232	43	4	274	4	HOXB4	17	46654355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231026	46654355	34540855	12506	36008											
TTLL6	284076	broad.mit.edu	37	chr17	46865317	46865317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccttctcatacgtttcaGttttctttaactgcacggcc	6	18	5	12	2	3	0	2	0	2	0	5	0	4	0	2	1	3	3	2	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46865317G>T	ENST00000393382.3	-	11	1586	c.1445C>A	c.(1444-1446)aCt>aAt	p.T482N	TTLL6_ENST00000433608.2_Missense_Mutation_p.T175N	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	434						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						ATACGTTTCAGTTTTCTTTAA	0.483													T	46865317	G	T	46865317	3	4	364	1	0	0	0	0	1	0	0	0	16833	1029	36	4	1250	4	TTLL6	17	46865317	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	210962	46865317	34329893	12507	36009											
CALCOCO2	10241	broad.mit.edu	37	chr17	46925799	46925799	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagaaaatgaggaagacatCctggttgttaccactcaggt	13	9	10	9	0	1	3	1	1	0	2	2	4	2	4	3	3	1	2	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:46925799C>A	ENST00000258947.3	+	4	500	c.399C>A	c.(397-399)atC>atA	p.I133I	CALCOCO2_ENST00000508679.1_Silent_p.I61I|CALCOCO2_ENST00000416445.2_Silent_p.I133I|CALCOCO2_ENST00000448105.2_Silent_p.I157I|CALCOCO2_ENST00000509507.1_Silent_p.I154I	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	133					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						AGGAAGACATCCTGGTTGTTA	0.438													A	46925799	C	A	46925799	2	1	364	1	0	0	0	0	0	0	0	1	2604	845	30	4		4	CALCOCO2	17	46925799	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60482	46925799	34269411	12508	36010											
B4GALNT2	124872	broad.mit.edu	37	chr17	47237959	47237959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtggccaagtttccagtgaCcatccgccatcctgtcatac	9	10	8	14	1	1	1	1	1	0	0	4	1	4	1	6	1	1	1	6	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47237959C>T	ENST00000300404.2	+	7	961	c.902C>T	c.(901-903)aCc>aTc	p.T301I	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.T241I|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.T215I	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	301					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TTTCCAGTGACCATCCGCCAT	0.527													T	47237959	C	T	47237959	3	4	364	1	0	0	0	0	1	0	0	0	1272	507	18	2	946	2	B4GALNT2	17	47237959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	312160	47237959	33957251	12509	36011											
B4GALNT2	124872	broad.mit.edu	37	chr17	47243497	47243497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggtttgctggtaggaacCtggccatatctcaggtcacc	7	12	12	10	0	2	0	2	0	1	0	3	1	2	1	3	5	2	4	3	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243497C>A	ENST00000300404.2	+	9	1215	c.1156C>A	c.(1156-1158)Ctg>Atg	p.L386M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.L326M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.L300M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	386					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGGTAGGAACCTGGCCATATC	0.463													A	47243497	C	A	47243497	3	1	364	1	0	0	0	0	1	0	0	0	1272	680	24	4	1208	4	B4GALNT2	17	47243497	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5538	47243497	33951713	12510	36012											
B4GALNT2	124872	broad.mit.edu	37	chr17	47243584	47243584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaccaagattgaggtgctgGtggatgtcctggagaaaaca	13	8	14	6	0	0	4	0	1	0	3	1	6	1	5	2	4	2	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47243584G>A	ENST00000300404.2	+	9	1302	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M	B4GALNT2_ENST00000393354.2_Missense_Mutation_p.V355M|B4GALNT2_ENST00000504681.1_Missense_Mutation_p.V329M	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	415					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity			endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			TGAGGTGCTGGTGGATGTCCT	0.512													A	47243584	G	A	47243584	3	1	364	1	0	0	0	0	1	0	0	0	1272	1261	44	2	1295	2	B4GALNT2	17	47243584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	47243584	33951626	12511	36013											
ZNF652	22834	broad.mit.edu	37	chr17	47394333	47394333	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgagtgttaaataccCtggggcacttctcacaggtc	10	9	10	12	1	1	0	1	0	1	0	3	1	1	0	2	3	2	2	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47394333C>A	ENST00000362063.2	-	2	1073	c.755G>T	c.(754-756)aGg>aTg	p.R252M	ZNF652_ENST00000430262.2_Missense_Mutation_p.R252M	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			GTTAAATACCCTGGGGCACTT	0.488													A	47394333	C	A	47394333	3	1	364	1	0	0	0	0	1	0	0	0	18166	681	24	4	1085	4	ZNF652	17	47394333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150749	47394333	33800877	12512	36014											
NGFR	4804	broad.mit.edu	37	chr17	47583691	47583691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccgacgtggtgagcgcgaCcgagccgtgcaagccgtgca	7	5	15	14	7	0	1	0	1	0	0	1	4	1	1	4	1	5	2	4	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47583691C>T	ENST00000172229.3	+	3	364	c.239C>T	c.(238-240)aCc>aTc	p.T80I	RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_5'UTR	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor	80					anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|membrane protein intracellular domain proteolysis|negative regulation of axonogenesis|negative regulation of cell cycle|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis	cell surface|cytosol|endosome|extracellular region|integral to plasma membrane|nucleoplasm				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					GTGAGCGCGACCGAGCCGTGC	0.682													T	47583691	C	T	47583691	3	4	364	1	0	0	0	0	1	0	0	0	10472	507	18	2	249	2	NGFR	17	47583691	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189358	47583691	33611519	12513	36015											
SPOP	8405	broad.mit.edu	37	chr17	47696646	47696646	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggatggagaatttgaatTttgcccgaacttcactcttt	10	15	8	8	1	3	2	2	1	1	1	3	5	3	3	1	2	2	0	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47696646T>A	ENST00000393331.3	-	6	772	c.302A>T	c.(301-303)aAa>aTa	p.K101I	SPOP_ENST00000393328.2_Missense_Mutation_p.K101I|SPOP_ENST00000503676.1_Missense_Mutation_p.K101I|SPOP_ENST00000347630.2_Missense_Mutation_p.K101I|SPOP_ENST00000504102.1_Missense_Mutation_p.K101I	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	101	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						GAATTTGAATTTTGCCCGAAC	0.408										Prostate(2;0.17)			A	47696646	T	A	47696646	3	1	364	1	0	0	0	0	1	0	0	0	15180	1841	64	5	850	5	SPOP	17	47696646	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112955	47696646	33498564	12514	36016											
SLC35B1	10237	broad.mit.edu	37	chr17	47781573	47781573	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagtcagtccatccaGggtcagcgataatagctggg	12	7	11	11	1	2	0	2	0	0	0	4	1	4	0	3	2	3	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47781573G>T	ENST00000240333.6	-	6	665	c.544C>A	c.(544-546)Ctg>Atg	p.L182M	SLC35B1_ENST00000415270.2_Missense_Mutation_p.L219M			P78383	S35B1_HUMAN	solute carrier family 35, member B1	182						endoplasmic reticulum membrane|integral to membrane|microsome	UDP-galactose transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(1)	7						AGTCCATCCAGGGTCAGCGAT	0.532													T	47781573	G	T	47781573	3	4	364	1	0	0	0	0	1	0	0	0	14669	991	35	4	440	4	SLC35B1	17	47781573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84927	47781573	33413637	12515	36017											
FAM117A	81558	broad.mit.edu	37	chr17	47799936	47799936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcacgctcaccttctagCtcttgccaggacaggggcgt	6	9	12	14	2	3	0	1	0	2	0	3	1	3	1	2	4	2	3	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:47799936C>T	ENST00000240364.2	-	3	466	c.387G>A	c.(385-387)gaG>gaA	p.E129E	FAM117A_ENST00000513602.1_5'UTR|FAM117A_ENST00000514018.1_5'UTR	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	129										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						CACCTTCTAGCTCTTGCCAGG	0.572													T	47799936	C	T	47799936	2	4	364	1	0	0	0	0	0	0	0	1	5454	796	28	2		2	FAM117A	17	47799936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18363	47799936	33395274	12516	36018											
ITGA3	3675	broad.mit.edu	37	chr17	48151344	48151344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctatcacagtagctctaaGgggctccttagacagcccca	11	9	8	13	0	3	1	1	0	2	1	4	1	4	1	3	2	2	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48151344G>A	ENST00000320031.8	+	8	1551	c.1221G>A	c.(1219-1221)aaG>aaA	p.K407K	ITGA3_ENST00000007722.7_Silent_p.K407K|ITGA3_ENST00000544892.1_Silent_p.K182K	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	407					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GTAGCTCTAAGGGGCTCCTTA	0.557													A	48151344	G	A	48151344	2	1	364	1	0	0	0	0	0	0	0	1	7935	991	35	2		2	ITGA3	17	48151344	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	351408	48151344	33043866	12517	36019											
COL1A1	1277	broad.mit.edu	37	chr17	48270050	48270050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcacctctctcgccagcgGgaccctgcacagagagaaca	10	6	10	15	2	2	2	1	0	1	2	4	4	2	3	3	1	3	2	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48270050G>T	ENST00000225964.5	-	28	1998	c.1880C>A	c.(1879-1881)cCc>cAc	p.P627H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	627	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CTCGCCAGCGGGACCCTGCAC	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						T	48270050	G	T	48270050	3	4	364	1	0	0	0	0	1	0	0	0	3708	1232	43	4	2610	4	COL1A1	17	48270050	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118706	48270050	32925160	12518	36020											
COL1A1	1277	broad.mit.edu	37	chr17	48272410	48272410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatggcggggagacttacagGctctcccttagcaccagtgt	8	9	13	11	1	1	1	0	0	1	1	2	3	1	1	2	4	2	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48272410G>A	ENST00000225964.5	-	20	1469	c.1351C>T	c.(1351-1353)Cct>Tct	p.P451S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	451	Triple-helical region.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGACTTACAGGCTCTCCCTTA	0.612			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48272410	G	A	48272410	3	1	364	1	0	0	0	0	1	0	0	0	3708	1203	42	2	3171	2	COL1A1	17	48272410	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2360	48272410	32922800	12519	36021											
TMEM92	162461	broad.mit.edu	37	chr17	48356668	48356668	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattgacaacccggccttctGagtcacctcctgcctggaat	8	10	8	15	1	2	2	1	2	1	0	3	3	3	3	5	2	2	0	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48356668G>A	ENST00000300433.3	+	6	589	c.479G>A	c.(478-480)tGa>tAa	p.*160*	TMEM92_ENST00000507382.1_Silent_p.*160*	NM_001168215.1	NP_001161687.1	Q6UXU6	TMM92_HUMAN	transmembrane protein 92	0						integral to membrane				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	7						CCGGCCTTCTGAGTCACCTCC	0.607													A	48356668	G	A	48356668	2	1	364	1	0	0	0	0	0	0	0	1	16321	1285	45	2		2	TMEM92	17	48356668	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84258	48356668	32838542	12520	36022											
XYLT2	64132	broad.mit.edu	37	chr17	48433533	48433533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaccaactggaaccgcaagCtgggctgcaagtgccagtac	11	6	11	13	1	1	0	1	0	0	0	1	1	1	1	3	2	6	5	3	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48433533C>G	ENST00000017003.2	+	7	1442	c.1393C>G	c.(1393-1395)Ctg>Gtg	p.L465V	XYLT2_ENST00000507602.1_Missense_Mutation_p.L465V	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	465					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					GAACCGCAAGCTGGGCTGCAA	0.602													G	48433533	C	G	48433533	3	3	364	1	0	0	0	0	1	0	0	0	17566	796	28	4	1419	4	XYLT2	17	48433533	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76865	48433533	32761677	12521	36023											
SPATA20	64847	broad.mit.edu	37	chr17	48626519	48626519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgacccgagtcggcttccGcacagtgttgctgagaatac	8	10	11	12	3	0	2	0	2	0	1	2	4	1	2	2	1	2	4	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48626519G>A	ENST00000006658.6	+	6	752	c.632G>A	c.(631-633)cGc>cAc	p.R211H	SPATA20_ENST00000356488.4_Missense_Mutation_p.R195H|SPATA20_ENST00000393244.3_Missense_Mutation_p.R151H|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	195					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			GTCGGCTTCCGCACAGTGTTG	0.622													A	48626519	G	A	48626519	3	1	364	1	0	0	0	0	1	0	0	0	15102	1087	38	1	654	1	SPATA20	17	48626519	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	192986	48626519	32568691	12522	36024											
SPATA20	64847	broad.mit.edu	37	chr17	48632596	48632596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctattccggtcagatcGtgatctgtggagaccgtcag	7	13	11	10	3	4	3	2	1	2	2	6	4	5	3	2	2	0	0	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48632596G>A	ENST00000006658.6	+	16	2281	c.2161G>A	c.(2161-2163)Gtg>Atg	p.V721M	SPATA20_ENST00000356488.4_Missense_Mutation_p.V705M|SPATA20_ENST00000393244.3_Missense_Mutation_p.V661M|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	705					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CGGTCAGATCGTGATCTGTGG	0.592													A	48632596	G	A	48632596	3	1	364	1	0	0	0	0	1	0	0	0	15102	1145	40	1	2223	1	SPATA20	17	48632596	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6077	48632596	32562614	12523	36025											
CACNA1G	8913	broad.mit.edu	37	chr17	48653030	48653030	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtccaacgccagcaccCtggctagcttctctgagccc	6	9	8	18	1	1	1	0	1	1	0	4	1	3	1	5	1	4	3	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48653030C>A	ENST00000352832.5	+	8	1639	c.1267C>A	c.(1267-1269)Ctg>Atg	p.L423M	CACNA1G_ENST00000514079.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000510366.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000429973.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000358244.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000512389.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000505165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000515165.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000513964.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000503485.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507510.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000513689.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000354983.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000442258.2_Missense_Mutation_p.L423M|CACNA1G_ENST00000510115.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000359106.5_Missense_Mutation_p.L423M|CACNA1G_ENST00000515411.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514717.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507609.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507896.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000502264.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000514181.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000507336.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000360761.4_Missense_Mutation_p.L423M|CACNA1G_ENST00000515765.1_Missense_Mutation_p.L423M|CACNA1G_ENST00000416767.4_Missense_Mutation_p.L423M	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	423					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CGCCAGCACCCTGGCTAGCTT	0.617													A	48653030	C	A	48653030	3	1	364	1	0	0	0	0	1	0	0	0	2570	680	24	4	1297	4	CACNA1G	17	48653030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20434	48653030	32542180	12524	36026											
CACNA1G	8913	broad.mit.edu	37	chr17	48655621	48655621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagcctgtggtccagacaGctgcccctactgtgcccggg	5	8	14	14	1	0	1	0	0	0	1	1	2	1	2	5	3	5	1	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655621G>A	ENST00000352832.5	+	9	2369	c.1997G>A	c.(1996-1998)aGc>aAc	p.S666N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S666N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S666N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S666N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S666N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S666N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	666					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GGTCCAGACAGCTGCCCCTAC	0.597													A	48655621	G	A	48655621	3	1	364	1	0	0	0	0	1	0	0	0	2570	971	34	2	2031	2	CACNA1G	17	48655621	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2591	48655621	32539589	12525	36027											
CACNA1G	8913	broad.mit.edu	37	chr17	48655849	48655849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccgaaagattgtggacaGcaagtactttggccggggaa	11	9	13	8	2	0	1	0	0	0	1	1	4	1	3	2	4	2	2	2	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48655849G>A	ENST00000352832.5	+	9	2597	c.2225G>A	c.(2224-2226)aGc>aAc	p.S742N	CACNA1G_ENST00000514079.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000358244.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S742N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S742N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507896.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S742N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S742N|CACNA1G_ENST00000416767.4_Missense_Mutation_p.S742N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	742					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTGTGGACAGCAAGTACTTT	0.592													A	48655849	G	A	48655849	3	1	364	1	0	0	0	0	1	0	0	0	2570	971	34	2	2259	2	CACNA1G	17	48655849	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228	48655849	32539361	12526	36028											
ABCC3	8714	broad.mit.edu	37	chr17	48741188	48741188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgactggggtgaagtttcGtactgggatcatgggtgtca	7	13	16	5	1	2	2	2	2	0	0	3	3	2	3	0	4	1	2	0	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48741188G>A	ENST00000285238.8	+	9	1225	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	ABCC3_ENST00000427699.1_Missense_Mutation_p.R382H	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	382	ABC transmembrane type-1 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GTGAAGTTTCGTACTGGGATC	0.562													A	48741188	G	A	48741188	3	1	364	1	0	0	0	0	1	0	0	0	54	1145	40	1	1179	1	ABCC3	17	48741188	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85339	48741188	32454022	12527	36029											
ABCC3	8714	broad.mit.edu	37	chr17	48750833	48750833	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccttctccccagacgCgagtgctggtgacgcacggc	5	8	13	15	4	1	2	0	1	1	1	2	3	1	2	3	2	3	3	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48750833C>T	ENST00000285238.8	+	19	2493	c.2413C>T	c.(2413-2415)Cga>Tga	p.R805*		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	805	ABC transporter 1.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TCCCCAGACGCGAGTGCTGGT	0.612													T	48750833	C	T	48750833	4	4	364	1	0	0	0	0	0	1	0	0	54	760	27	1	2571	1	ABCC3	17	48750833	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9645	48750833	32444377	12528	36030											
ABCC3	8714	broad.mit.edu	37	chr17	48753805	48753805	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctccaaggacatctatgtCgttgatgaggttctggcccc	7	13	10	11	1	3	2	0	2	3	0	5	3	3	3	3	3	0	2	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48753805C>T	ENST00000285238.8	+	23	3314	c.3234C>T	c.(3232-3234)gtC>gtT	p.V1078V		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1078	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACATCTATGTCGTTGATGAGG	0.537													T	48753805	C	T	48753805	2	4	364	1	0	0	0	0	0	0	0	1	54	871	31	1		1	ABCC3	17	48753805	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2972	48753805	32441405	12529	36031											
ABCC3	8714	broad.mit.edu	37	chr17	48757159	48757159	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacccagtccctttggccagGtgacatttgctctgaactgg	8	11	10	12	0	1	2	0	2	1	0	2	2	2	2	3	3	3	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48757159G>T	ENST00000285238.8	+	26	3786	c.3706G>T	c.(3706-3708)Gtg>Ttg	p.V1236L		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1236	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CTTTGGCCAGGTGACATTTGC	0.512													T	48757159	G	T	48757159	5	4	364	1	0	0	0	0	0	0	1	0	54	1275	44	4	3892	4	ABCC3	17	48757159	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3354	48757159	32438051	12530	36032											
ABCC3	8714	broad.mit.edu	37	chr17	48761033	48761033	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccacgtggggaggtggaGttccggaattattctgtgcg	6	10	15	10	3	1	0	0	0	1	0	2	3	2	3	3	5	1	1	3	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761033G>T	ENST00000285238.8	+	27	3950	c.3870G>T	c.(3868-3870)gaG>gaT	p.E1290D		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1290					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	GGGAGGTGGAGTTCCGGAATT	0.662													T	48761033	G	T	48761033	3	4	364	1	0	0	0	0	1	0	0	0	54	1020	36	4	4060	4	ABCC3	17	48761033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3874	48761033	32434177	12531	36033											
ABCC3	8714	broad.mit.edu	37	chr17	48761367	48761367	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgaccctttgcctgttcCgcatcctggaggcggcaaag	7	9	11	14	2	0	1	0	1	0	0	2	2	2	2	5	3	1	3	5	3	1	2	rs141762939		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48761367C>A	ENST00000285238.8	+	28	4092	c.4012C>A	c.(4012-4014)Cgc>Agc	p.R1338S		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1338	ABC transporter 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	TTGCCTGTTCCGCATCCTGGA	0.622													A	48761367	C	A	48761367	3	1	364	1	0	0	0	0	1	0	0	0	54	652	23	4	4206	4	ABCC3	17	48761367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	334	48761367	32433843	12532	36034											
ANKRD40	91369	broad.mit.edu	37	chr17	48777955	48777955	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttcctgatttctctcCttgatgttaactggactggc	7	17	7	10	0	2	2	0	2	2	0	5	3	4	3	2	2	1	1	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48777955C>A	ENST00000285243.6	-	2	526	c.257G>T	c.(256-258)aGg>aTg	p.R86M		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	86										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			GATTTCTCTCCTTGATGTTAA	0.413													A	48777955	C	A	48777955	3	1	364	1	0	0	0	0	1	0	0	0	669	681	24	4	865	4	ANKRD40	17	48777955	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16588	48777955	32417255	12533	36035											
LUC7L3	51747	broad.mit.edu	37	chr17	48821079	48821079	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctaagattgaagaattaGggtctgaaggaaaagtagaa	17	10	11	3	0	2	5	0	2	2	3	2	6	2	6	0	2	0	1	0	2	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48821079G>T	ENST00000505658.1	+	6	628	c.439G>T	c.(439-441)Ggg>Tgg	p.G147W	LUC7L3_ENST00000393227.2_Missense_Mutation_p.G147W|LUC7L3_ENST00000240304.1_Missense_Mutation_p.G147W|LUC7L3_ENST00000544170.1_Missense_Mutation_p.G71W			O95232	LC7L3_HUMAN	LUC7-like 3 (S. cerevisiae)	147					apoptosis|mRNA processing|response to stress|RNA splicing	focal adhesion|nuclear speck	DNA binding|mRNA binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	12						TGAAGAATTAGGGTCTGAAGG	0.378													T	48821079	G	T	48821079	3	4	364	1	0	0	0	0	1	0	0	0	9154	1000	35	4	461	4	LUC7L3	17	48821079	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43124	48821079	32374131	12534	36036											
WFIKKN2	124857	broad.mit.edu	37	chr17	48918032	48918032	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaccagcttctgtcgcagCgactttgtcatcctgggccg	5	12	11	13	3	2	0	1	0	1	0	4	1	3	0	3	1	3	3	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48918032C>T	ENST00000311378.4	+	2	1911	c.1383C>T	c.(1381-1383)agC>agT	p.S461S	WFIKKN2_ENST00000426127.1_Silent_p.S368S|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	461	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCTGTCGCAGCGACTTTGTCA	0.632													T	48918032	C	T	48918032	2	4	364	1	0	0	0	0	0	0	0	1	17461	767	27	1		1	WFIKKN2	17	48918032	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96953	48918032	32277178	12535	36037											
TOB1	10140	broad.mit.edu	37	chr17	48940436	48940436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagatttctcattgaggcCtccataggctgcaaacacat	14	10	7	10	0	1	2	1	1	1	1	3	2	2	2	2	2	2	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:48940436C>T	ENST00000499247.2	-	2	1376	c.943G>A	c.(943-945)Ggc>Agc	p.G315S	TOB1_ENST00000268957.3_Missense_Mutation_p.G315S	NM_001243885.1|NM_005749.3	NP_001230814.1|NP_005740.1	P50616	TOB1_HUMAN	transducer of ERBB2, 1	315					negative regulation of cell proliferation		SH3/SH2 adaptor activity			breast(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			TCATTGAGGCCTCCATAGGCT	0.413													T	48940436	C	T	48940436	3	4	364	1	0	0	0	0	1	0	0	0	16447	681	24	2	98	2	TOB1	17	48940436	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22404	48940436	32254774	12536	36038											
SPAG9	9043	broad.mit.edu	37	chr17	49067917	49067917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgtgatgcctcctaacagGctgtctgtctctgctgagct	6	13	10	12	0	2	2	0	2	2	0	4	2	3	2	2	1	4	3	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067917G>T	ENST00000262013.7	-	20	2719	c.2511C>A	c.(2509-2511)agC>agA	p.S837R	SPAG9_ENST00000357122.4_Missense_Mutation_p.S823R|SPAG9_ENST00000505279.1_Missense_Mutation_p.S827R|SPAG9_ENST00000510283.1_Missense_Mutation_p.S680R	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	837					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTAACAGGCTGTCTGTCT	0.488													T	49067917	G	T	49067917	3	4	364	1	0	0	0	0	1	0	0	0	15081	1194	42	4	1498	4	SPAG9	17	49067917	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127481	49067917	32127293	12537	36039											
SPAG9	9043	broad.mit.edu	37	chr17	49067996	49067996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccagattctgaaagaTcttctcctgcagggtagtct	9	12	9	11	0	4	4	0	2	4	2	5	4	4	4	3	1	1	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49067996T>C	ENST00000262013.7	-	20	2640	c.2432A>G	c.(2431-2433)gAt>gGt	p.D811G	SPAG9_ENST00000357122.4_Missense_Mutation_p.D797G|SPAG9_ENST00000505279.1_Missense_Mutation_p.D801G|SPAG9_ENST00000510283.1_Missense_Mutation_p.D654G	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	811					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			TTCTGAAAGATCTTCTCCTGC	0.388													C	49067996	T	C	49067996	3	2	364	1	0	0	0	0	1	0	0	0	15081	1435	50	3	1577	3	SPAG9	17	49067996	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79	49067996	32127214	12538	36040											
UTP18	51096	broad.mit.edu	37	chr17	49365522	49365522	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatcctactacagaaatCttggcaattgcttcagaaaa	15	12	5	9	0	3	2	2	0	1	2	4	2	4	2	1	1	3	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:49365522C>A	ENST00000225298.7	+	11	1518	c.1461C>A	c.(1459-1461)atC>atA	p.I487I		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	487					rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			CTACAGAAATCTTGGCAATTG	0.313													A	49365522	C	A	49365522	2	1	364	1	0	0	0	0	0	0	0	1	17200	903	32	4		4	UTP18	17	49365522	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	297526	49365522	31829688	12539	36041											
CA10	56934	broad.mit.edu	37	chr17	50008453	50008453	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccgtttccccacagagcaaAgattccaagctgagttcacc	11	8	8	14	1	1	3	1	1	0	2	3	3	3	3	5	0	2	4	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:50008453A>C	ENST00000451037.2	-	3	1116	c.176T>G	c.(175-177)cTt>cGt	p.L59R	CA10_ENST00000285273.4_Missense_Mutation_p.L59R|CA10_ENST00000340813.6_Missense_Mutation_p.L65R|CA10_ENST00000570565.1_5'UTR|CA10_ENST00000442502.2_Missense_Mutation_p.L59R	NM_020178.4	NP_064563.1	Q9NS85	CAH10_HUMAN	carbonic anhydrase X	59					brain development					cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|skin(3)|stomach(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(22;4.74e-06)			CACAGAGCAAAGATTCCAAGC	0.468													C	50008453	A	C	50008453	3	2	364	1	0	0	0	0	1	0	0	0	2537	72	3	5	838	5	CA10	17	50008453	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	642931	50008453	31186757	12540	36042											
KIF2B	84643	broad.mit.edu	37	chr17	51902154	51902154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttattaaaataccttatgTacagagtgaggagcagaaag	17	11	9	4	0	0	3	0	1	0	2	0	4	0	4	1	1	3	2	1	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:51902154T>C	ENST00000268919.4	+	1	1916	c.1760T>C	c.(1759-1761)gTa>gCa	p.V587A		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	587					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ATACCTTATGTACAGAGTGAG	0.418													C	51902154	T	C	51902154	3	2	364	1	0	0	0	0	1	0	0	0	8356	1638	57	3	1762	3	KIF2B	17	51902154	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1893701	51902154	29293056	12541	36043											
TOM1L1	10040	broad.mit.edu	37	chr17	52992099	52992099	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgactgttacattggtcccaGaacaggtaacaacaacaatc	15	8	7	11	1	0	1	0	0	0	1	2	2	1	1	1	2	5	2	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:52992099G>T	ENST00000575882.1	+	6	951	c.598G>T	c.(598-600)Gaa>Taa	p.E200*	TOM1L1_ENST00000572405.1_Nonsense_Mutation_p.E165*|TOM1L1_ENST00000445275.2_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000540336.1_Intron|TOM1L1_ENST00000575333.1_Nonsense_Mutation_p.E200*|TOM1L1_ENST00000572158.1_Nonsense_Mutation_p.E193*|TOM1L1_ENST00000348161.4_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000536554.1_Nonsense_Mutation_p.E123*|TOM1L1_ENST00000570371.1_Nonsense_Mutation_p.E200*	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	200	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						ATTGGTCCCAGAACAGGtaac	0.383													T	52992099	G	T	52992099	4	4	364	1	0	0	0	0	0	1	0	0	16452	943	33	4	620	4	TOM1L1	17	52992099	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1089945	52992099	28203111	12542	36044											
HLF	3131	broad.mit.edu	37	chr17	53345266	53345266	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatacatggacctggaggaGtttttgtcagaaaatggcat	13	11	12	5	0	1	1	1	0	0	1	1	5	1	4	1	4	1	2	1	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:53345266G>A	ENST00000226067.5	+	2	743	c.270G>A	c.(268-270)gaG>gaA	p.E90E	HLF_ENST00000430986.2_Silent_p.E5E|HLF_ENST00000573945.1_Silent_p.E5E|HLF_ENST00000575345.1_Silent_p.E5E	NM_002126.4	NP_002117.1	Q16534	HLF_HUMAN	hepatic leukemia factor	90					multicellular organismal development|rhythmic process|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|ovary(2)	3						ACCTGGAGGAGTTTTTGTCAG	0.582			T	TCF3	ALL								A	53345266	G	A	53345266	2	1	364	1	0	0	0	0	0	0	0	1	7269	1020	36	2		2	HLF	17	53345266	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	353167	53345266	27849944	12543	36045											
ANKFN1	162282	broad.mit.edu	37	chr17	54452064	54452064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtcaatgcagctgtagtaaCcaggtataaaggtactggac	13	9	11	8	1	1	0	1	0	0	0	1	1	1	1	1	3	4	6	1	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:54452064C>T	ENST00000566473.2	+	7	908	c.908C>T	c.(907-909)aCc>aTc	p.T303I	ANKFN1_ENST00000318698.2_Missense_Mutation_p.T303I			Q8N957	ANKF1_HUMAN	ankyrin-repeat and fibronectin type III domain containing 1	303	Fibronectin type-III.									NS(1)|breast(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(11)|lung(27)|ovary(1)|prostate(1)|skin(1)	53						GCTGTAGTAACCAGGTATAAA	0.438													T	54452064	C	T	54452064	3	4	364	1	0	0	0	0	1	0	0	0	625	507	18	2	934	2	ANKFN1	17	54452064	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1106798	54452064	26743146	12544	36046											
AKAP1	8165	broad.mit.edu	37	chr17	55183014	55183014	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccccgtggaagacgtCtgtcccaaagtagtgtccac	8	9	9	15	2	2	1	0	0	2	1	5	2	4	2	5	1	0	1	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55183014C>A	ENST00000337714.3	+	2	422	c.189C>A	c.(187-189)gtC>gtA	p.V63V	AKAP1_ENST00000539273.1_Silent_p.V63V|AKAP1_ENST00000572557.1_Silent_p.V63V|AKAP1_ENST00000314126.3_Silent_p.V63V|AKAP1_ENST00000571629.1_Silent_p.V63V	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	63					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					TGGAAGACGTCTGTCCCAAAG	0.602													A	55183014	C	A	55183014	2	1	364	1	0	0	0	0	0	0	0	1	445	900	32	4		4	AKAP1	17	55183014	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	730950	55183014	26012196	12545	36047											
AKAP1	8165	broad.mit.edu	37	chr17	55193476	55193476	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctccctaccctgcagtaacGgtcatctgtgccgcccctgg	5	9	10	17	2	2	0	1	0	1	0	3	0	3	0	5	2	4	3	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55193476G>A	ENST00000337714.3	+	7	2519	c.2286G>A	c.(2284-2286)acG>acA	p.T762T	AKAP1_ENST00000539273.1_Silent_p.T762T|AKAP1_ENST00000572557.1_Silent_p.T762T|AKAP1_ENST00000571629.1_Silent_p.T762T	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	762	Tudor.				blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					CTGCAGTAACGGTCATCTGTG	0.647													A	55193476	G	A	55193476	2	1	364	1	0	0	0	0	0	0	0	1	445	1103	39	1		1	AKAP1	17	55193476	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10462	55193476	26001734	12546	36048											
MSI2	124540	broad.mit.edu	37	chr17	55334830	55334830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctctctacagataGccttagagactattttagca	10	16	5	10	0	3	2	0	0	3	2	5	3	3	2	1	0	3	1	1	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55334830G>A	ENST00000284073.2	+	3	316	c.107G>A	c.(106-108)aGc>aAc	p.S36N	MSI2_ENST00000322684.3_Missense_Mutation_p.S32N|MSI2_ENST00000416426.2_Missense_Mutation_p.S14N	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	36	RRM 1.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		TCTACAGATAGCCTTAGAGAC	0.398			T	HOXA9	CML								A	55334830	G	A	55334830	3	1	364	1	0	0	0	0	1	0	0	0	9952	971	34	2	167	2	MSI2	17	55334830	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141354	55334830	25860380	12547	36049											
MSI2	124540	broad.mit.edu	37	chr17	55752348	55752348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggctccaacccggcgcGgcccggaggcttcccggggg	4	3	18	16	5	0	0	0	0	0	0	2	1	2	1	4	8	1	3	4	8	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:55752348G>A	ENST00000284073.2	+	12	1015	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	MSI2_ENST00000579505.1_3'UTR|MSI2_ENST00000442934.2_Missense_Mutation_p.R208Q|MSI2_ENST00000416426.2_Missense_Mutation_p.R265Q	NM_138962.2	NP_620412.1	Q96DH6	MSI2H_HUMAN	musashi RNA-binding protein 2	269						cytoplasm	nucleotide binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	7	Breast(9;1.78e-08)			GBM - Glioblastoma multiforme(1;0.0025)		AACCCGGCGCGGCCCGGAGGC	0.642			T	HOXA9	CML								A	55752348	G	A	55752348	3	1	364	1	0	0	0	0	1	0	0	0	9952	1116	39	1	947	1	MSI2	17	55752348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	417518	55752348	25442862	12548	36050											
VEZF1	7716	broad.mit.edu	37	chr17	56051876	56051876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttggggcaagaaaggCatgctctctacaggtctcat	12	9	11	9	0	2	1	1	0	2	1	4	1	2	1	0	4	3	4	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56051876C>T	ENST00000584396.1	-	6	1585	c.1497G>A	c.(1495-1497)atG>atA	p.M499I	VEZF1_ENST00000581208.1_Missense_Mutation_p.M508I			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	508					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GCAAGAAAGGCATGCTCTCTA	0.408													T	56051876	C	T	56051876	3	4	364	1	0	0	0	0	1	0	0	0	17257	710	25	2	45	2	VEZF1	17	56051876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299528	56051876	25143334	12549	36051											
VEZF1	7716	broad.mit.edu	37	chr17	56060664	56060664	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattggtattggaagcaatgGtttctgatcagggggctcca	9	13	13	6	0	2	1	1	1	1	0	3	2	3	2	1	5	1	4	1	5	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56060664G>T	ENST00000584396.1	-	2	185	c.97C>A	c.(97-99)Cca>Aca	p.P33T	VEZF1_ENST00000581208.1_Missense_Mutation_p.P42T			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	42					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGAAGCAATGGTTTCTGATCA	0.473													T	56060664	G	T	56060664	3	4	364	1	0	0	0	0	1	0	0	0	17257	1261	44	4	1461	4	VEZF1	17	56060664	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8788	56060664	25134546	12550	36052											
EPX	8288	broad.mit.edu	37	chr17	56270815	56270815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggtagcagccaccaggaCagttgttcgggccgcagatt	9	7	13	12	3	0	1	0	0	0	1	1	2	0	2	4	3	2	5	4	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56270815C>T	ENST00000225371.5	+	3	364	c.254C>T	c.(253-255)aCa>aTa	p.T85I		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	85					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GCCACCAGGACAGTTGTTCGG	0.577													T	56270815	C	T	56270815	3	4	364	1	0	0	0	0	1	0	0	0	5241	478	17	2	264	2	EPX	17	56270815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	210151	56270815	24924395	12551	36053											
EPX	8288	broad.mit.edu	37	chr17	56271114	56271114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcggctgctgtcccaggCcagtggctgtgctctccggg	2	9	16	14	2	1	0	0	0	1	0	3	0	2	0	3	4	3	5	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56271114C>T	ENST00000225371.5	+	4	496	c.386C>T	c.(385-387)gCc>gTc	p.A129V		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	129					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						CTGTCCCAGGCCAGTGGCTGT	0.632													T	56271114	C	T	56271114	3	4	364	1	0	0	0	0	1	0	0	0	5241	739	26	2	400	2	EPX	17	56271114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299	56271114	24924096	12552	36054											
EPX	8288	broad.mit.edu	37	chr17	56274504	56274504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaactacctggggctgctgGccatcaaccagcgctttcaa	9	8	9	15	1	2	0	2	0	0	0	2	0	2	0	4	3	5	3	4	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56274504G>A	ENST00000225371.5	+	7	1116	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	336					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						GGGGCTGCTGGCCATCAACCA	0.647													A	56274504	G	A	56274504	3	1	364	1	0	0	0	0	1	0	0	0	5241	1203	42	2	1032	2	EPX	17	56274504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3390	56274504	24920706	12553	36055											
LPO	4025	broad.mit.edu	37	chr17	56329583	56329583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcggggactcaagggaaatGcatgcctttcttccgagctg	8	9	14	10	2	2	0	1	0	1	0	3	3	3	2	2	4	3	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56329583G>A	ENST00000262290.4	+	8	1137	c.821G>A	c.(820-822)tGc>tAc	p.C274Y	LPO_ENST00000582328.1_Missense_Mutation_p.C191Y|LPO_ENST00000421678.2_Missense_Mutation_p.C191Y|LPO_ENST00000543544.1_Missense_Mutation_p.C215Y	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	274					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAAGGGAAATGCATGCCTTTC	0.607													A	56329583	G	A	56329583	3	1	364	1	0	0	0	0	1	0	0	0	8992	1319	46	2	847	2	LPO	17	56329583	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55079	56329583	24865627	12554	36056											
LPO	4025	broad.mit.edu	37	chr17	56342180	56342180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaatctgtggatcccaGaatttccaatgtcttcacct	10	13	7	11	0	3	2	1	1	2	1	5	3	5	3	3	1	0	0	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56342180G>T	ENST00000262290.4	+	10	1680	c.1364G>T	c.(1363-1365)aGa>aTa	p.R455I	LPO_ENST00000582328.1_Missense_Mutation_p.R372I|LPO_ENST00000421678.2_Missense_Mutation_p.R372I|LPO_ENST00000543544.1_Missense_Mutation_p.R396I	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	455					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R455fs*66(1)		breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						GTGGATCCCAGAATTTCCAAT	0.498													T	56342180	G	T	56342180	3	4	364	1	0	0	0	0	1	0	0	0	8992	942	33	4	1398	4	LPO	17	56342180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12597	56342180	24853030	12555	36057											
MPO	4353	broad.mit.edu	37	chr17	56350917	56350917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagcggaaggcattggtgaaGacgttggcgatgcgtgggtc	8	9	18	6	4	0	2	0	1	0	1	1	4	0	3	0	5	2	2	0	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56350917G>A	ENST00000340482.3	-	8	1751	c.1575C>T	c.(1573-1575)gtC>gtT	p.V525V	MPO_ENST00000225275.3_Silent_p.V493V			P05164	PERM_HUMAN	myeloperoxidase	493					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CATTGGTGAAGACGTTGGCGA	0.617													A	56350917	G	A	56350917	2	1	364	1	0	0	0	0	0	0	0	1	9808	929	33	2		2	MPO	17	56350917	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8737	56350917	24844293	12556	36058											
MPO	4353	broad.mit.edu	37	chr17	56355248	56355248	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacaggggtcatcgtgcaGgttgtcaaagggcagcaggg	10	6	18	7	1	2	1	2	0	0	1	3	2	2	1	0	5	2	4	0	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56355248G>A	ENST00000340482.3	-	6	1416	c.1240C>T	c.(1240-1242)Ctg>Ttg	p.L414L	MPO_ENST00000225275.3_Silent_p.L382L|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	382					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	TCATCGTGCAGGTTGTCAAAG	0.642													A	56355248	G	A	56355248	2	1	364	1	0	0	0	0	0	0	0	1	9808	991	35	2		2	MPO	17	56355248	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4331	56355248	24839962	12557	36059											
BZRAP1	9256	broad.mit.edu	37	chr17	56382460	56382460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctgggttccctgtccaGgccgcctgcctcaggcccag	3	9	12	17	1	1	0	1	0	0	0	4	0	4	0	7	3	1	1	7	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56382460G>T	ENST00000355701.3	-	30	6376	c.5506C>A	c.(5506-5508)Ctg>Atg	p.L1836M	BZRAP1_ENST00000343736.4_Missense_Mutation_p.L1836M|BZRAP1_ENST00000268893.6_Missense_Mutation_p.L1776M	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1836						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCCTGTCCAGGCCGCCTGCC	0.632													T	56382460	G	T	56382460	3	4	364	1	0	0	0	0	1	0	0	0	1587	991	35	4	75	4	BZRAP1	17	56382460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27212	56382460	24812750	12558	36060											
BZRAP1	9256	broad.mit.edu	37	chr17	56395645	56395645	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccagcaattacctcaGgtgtagggcatgacttgggg	9	8	12	12	0	1	1	1	1	0	0	1	1	1	1	4	4	2	3	4	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56395645G>T	ENST00000355701.3	-	14	2738	c.1868C>A	c.(1867-1869)cCt>cAt	p.P623H	BZRAP1_ENST00000343736.4_Missense_Mutation_p.P623H|BZRAP1_ENST00000268893.6_Missense_Mutation_p.P563H	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	623						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTACCTCAGGTGTAGGGCA	0.612													T	56395645	G	T	56395645	3	4	364	1	0	0	0	0	1	0	0	0	1587	1000	35	4	3777	4	BZRAP1	17	56395645	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13185	56395645	24799565	12559	36061											
BZRAP1	9256	broad.mit.edu	37	chr17	56400738	56400738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgcttcttgctgagctccGattcctgaggggtcagaacc	6	11	11	13	2	2	3	1	2	1	1	5	4	5	3	4	2	3	3	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56400738G>A	ENST00000355701.3	-	7	1895	c.1025C>T	c.(1024-1026)tCg>tTg	p.S342L	BZRAP1_ENST00000343736.4_Missense_Mutation_p.S342L|BZRAP1_ENST00000268893.6_Missense_Mutation_p.S282L	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	342						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCTGAGCTCCGATTCCTGAGG	0.587													A	56400738	G	A	56400738	3	1	364	1	0	0	0	0	1	0	0	0	1587	1059	37	1	4648	1	BZRAP1	17	56400738	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5093	56400738	24794472	12560	36062											
RNF43	54894	broad.mit.edu	37	chr17	56438188	56438188	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatggcacacacaggggCtgagctgcagctgctccctg	9	6	13	13	0	0	2	0	1	0	1	1	2	1	2	1	3	4	6	1	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56438188C>A	ENST00000584437.1	-	6	2760	c.805G>T	c.(805-807)Gcc>Tcc	p.A269S	RNF43_ENST00000583753.1_Missense_Mutation_p.A228S|RNF43_ENST00000577625.1_Missense_Mutation_p.A142S|RNF43_ENST00000500597.2_Missense_Mutation_p.A228S|RNF43_ENST00000577716.1_Missense_Mutation_p.A269S|RNF43_ENST00000581868.1_Missense_Mutation_p.A142S|RNF43_ENST00000407977.2_Missense_Mutation_p.A269S|BZRAP1-AS1_ENST00000583841.1_RNA			Q68DV7	RNF43_HUMAN	ring finger protein 43	269						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACACAGGGGCTGAGCTGCAG	0.632													A	56438188	C	A	56438188	3	1	364	1	0	0	0	0	1	0	0	0	13586	797	28	4	1562	4	RNF43	17	56438188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37450	56438188	24757022	12561	36063											
HSF5	124535	broad.mit.edu	37	chr17	56536281	56536281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatattctcacgtgaactgGtctggcattttatgttggca	9	15	10	7	1	2	2	1	1	2	1	3	2	2	2	0	3	1	3	0	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56536281G>A	ENST00000323777.3	-	5	1677	c.1568C>T	c.(1567-1569)aCc>aTc	p.T523I		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	523						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ACGTGAACTGGTCTGGCATTT	0.398													A	56536281	G	A	56536281	3	1	364	1	0	0	0	0	1	0	0	0	7454	1261	44	2	230	2	HSF5	17	56536281	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98093	56536281	24658929	12562	36064											
HSF5	124535	broad.mit.edu	37	chr17	56557567	56557567	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggatggagttgatacacaGgagtaaggagacaaactatc	15	8	13	5	0	0	2	0	1	0	1	1	6	0	5	0	4	2	2	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56557567G>T	ENST00000323777.3	-	2	721	c.612C>A	c.(610-612)tcC>tcA	p.S204S		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	204						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TTGATACACAGGAGTAAGGAG	0.448													T	56557567	G	T	56557567	2	4	364	1	0	0	0	0	0	0	0	1	7454	987	35	4		4	HSF5	17	56557567	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21286	56557567	24637643	12563	36065											
MTMR4	9110	broad.mit.edu	37	chr17	56581192	56581192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccccaagtgtgcatggaGatgatgctggcagataaaca	12	9	11	9	0	0	3	0	1	0	2	1	4	1	3	2	2	3	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56581192G>T	ENST00000323456.5	-	15	1848	c.1724C>A	c.(1723-1725)tCt>tAt	p.S575Y	MTMR4_ENST00000579925.1_Missense_Mutation_p.S518Y	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	575						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTGCATGGAGATGATGCTGG	0.537													T	56581192	G	T	56581192	3	4	364	1	0	0	0	0	1	0	0	0	10022	942	33	4	1883	4	MTMR4	17	56581192	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23625	56581192	24614018	12564	36066											
C17orf47	284083	broad.mit.edu	37	chr17	56619325	56619325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtacatttcctcagagaCatctgaaagtaacagagaga	16	10	8	7	0	2	4	1	1	1	3	3	6	3	4	1	0	2	2	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56619325C>T	ENST00000321691.3	-	2	1745	c.1564G>A	c.(1564-1566)Gtc>Atc	p.V522I	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	522										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCCTCAGAGACATCTGAAAGT	0.507													T	56619325	C	T	56619325	3	4	364	1	0	0	0	0	1	0	0	0	1874	478	17	2	152	2	C17orf47	17	56619325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38133	56619325	24575885	12565	36067											
C17orf47	284083	broad.mit.edu	37	chr17	56621448	56621448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatggcttgaggcaagaaCgtacccatgtccctgctgag	9	9	12	11	2	0	3	0	2	0	1	2	4	1	3	2	2	3	4	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56621448C>T	ENST00000321691.3	-	1	281	c.100G>A	c.(100-102)Gtt>Att	p.V34I	RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580769.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	34										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGGCAAGAACGTACCCATGT	0.532													T	56621448	C	T	56621448	3	4	364	1	0	0	0	0	1	0	0	0	1874	536	19	1	1620	1	C17orf47	17	56621448	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2123	56621448	24573762	12566	36068											
TEX14	56155	broad.mit.edu	37	chr17	56635179	56635179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgattcggaccaacCtagtcgcttccaaaaacagg	12	8	9	12	2	0	1	0	1	0	0	3	3	1	3	4	3	2	1	4	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56635179C>A	ENST00000389934.3	-	32	4537	c.4420G>T	c.(4420-4422)Ggt>Tgt	p.G1474C	TEX14_ENST00000349033.5_Missense_Mutation_p.G1434C|TEX14_ENST00000240361.8_Missense_Mutation_p.G1480C|TEX14_ENST00000584699.1_Intron	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1480						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TCGGACCAACCTAGTCGCTTC	0.348													A	56635179	C	A	56635179	3	1	364	1	0	0	0	0	1	0	0	0	15878	681	24	4	63	4	TEX14	17	56635179	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13731	56635179	24560031	12567	36069											
TEX14	56155	broad.mit.edu	37	chr17	56647841	56647841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaataaatgaagacaatCttttctataaggaagagata	18	10	6	7	0	2	3	0	1	2	2	2	5	2	4	2	1	0	0	2	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56647841C>A	ENST00000389934.3	-	26	3959	c.3842G>T	c.(3841-3843)aGa>aTa	p.R1281I	TEX14_ENST00000349033.5_Missense_Mutation_p.R1241I|TEX14_ENST00000240361.8_Missense_Mutation_p.R1287I	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	1287						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGAAGACAATCTTTTCTATAA	0.443													A	56647841	C	A	56647841	3	1	364	1	0	0	0	0	1	0	0	0	15878	913	32	4	665	4	TEX14	17	56647841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12662	56647841	24547369	12568	36070											
TEX14	56155	broad.mit.edu	37	chr17	56688591	56688591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatatggacagcataggagCtgagggagcggtggataaac	13	7	16	5	1	0	2	0	2	0	0	0	6	0	6	0	5	4	2	0	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:56688591C>T	ENST00000389934.3	-	10	1232	c.1115G>A	c.(1114-1116)aGc>aAc	p.S372N	TEX14_ENST00000349033.5_Missense_Mutation_p.S372N|TEX14_ENST00000240361.8_Missense_Mutation_p.S378N	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	378	Protein kinase.					cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCATAGGAGCTGAGGGAGCG	0.532													T	56688591	C	T	56688591	3	4	364	1	0	0	0	0	1	0	0	0	15878	797	28	2	3456	2	TEX14	17	56688591	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40750	56688591	24506619	12569	36071											
TRIM37	4591	broad.mit.edu	37	chr17	57158493	57158493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcagttccatgagacGccgacgaagtttggctacct	9	10	11	11	3	1	2	1	2	0	1	2	5	2	2	3	1	1	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57158493G>A	ENST00000376149.3	-	6	900	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C	TRIM37_ENST00000393066.3_Missense_Mutation_p.R153C|TRIM37_ENST00000393065.2_Missense_Mutation_p.R119C|TRIM37_ENST00000262294.7_Missense_Mutation_p.R153C			O94972	TRI37_HUMAN	tripartite motif containing 37	153						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					TCCATGAGACGCCGACGAAGT	0.318									Mulibrey Nanism				A	57158493	G	A	57158493	3	1	364	1	0	0	0	0	1	0	0	0	16612	1087	38	1	2521	1	TRIM37	17	57158493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469902	57158493	24036717	12570	36072											
YPEL2	388403	broad.mit.edu	37	chr17	57465709	57465709	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccaaggaagtcaaggaCgagcatacctctttaactca	14	9	7	11	1	3	0	2	0	1	0	4	3	4	2	2	2	3	1	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57465709C>T	ENST00000312655.4	+	3	457	c.139C>T	c.(139-141)Cga>Tga	p.R47*	YPEL2_ENST00000585166.1_Nonsense_Mutation_p.R47*|YPEL2_ENST00000581865.1_3'UTR	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	47						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					AAGTCAAGGACGAGCATACCT	0.418													T	57465709	C	T	57465709	4	4	364	1	0	0	0	0	0	1	0	0	17592	528	19	1	145	1	YPEL2	17	57465709	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	307216	57465709	23729501	12571	36073											
DHX40	79665	broad.mit.edu	37	chr17	57644083	57644083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagctgtgagggacaatTcattccttattgttactgga	10	15	9	7	0	2	1	2	1	0	0	3	3	3	3	1	2	2	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57644083T>C	ENST00000251241.4	+	2	355	c.208T>C	c.(208-210)Tca>Cca	p.S70P	DHX40_ENST00000451169.2_5'UTR|DHX40_ENST00000425628.3_Intron	NM_024612.4	NP_078888.4	Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	70	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGGGACAATTCATTCCTTAT	0.363													C	57644083	T	C	57644083	3	2	364	1	0	0	0	0	1	0	0	0	4551	1783	62	3	214	3	DHX40	17	57644083	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178374	57644083	23551127	12572	36074											
DHX40	79665	broad.mit.edu	37	chr17	57682891	57682891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctacgcaagaattgtatgcCcaatccgttatgaatgggta	12	12	9	8	2	1	2	0	1	1	1	2	2	2	2	2	1	2	4	2	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57682891C>T	ENST00000451169.2	+	20	2271	c.1912C>T	c.(1912-1914)Cca>Tca	p.P638S	DHX40_ENST00000251241.4_Missense_Mutation_p.P686S|DHX40_ENST00000425628.3_Missense_Mutation_p.P609S			Q8IX18	DHX40_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 40	686							ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(7)|large_intestine(6)|lung(6)|prostate(1)	20	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					AATTGTATGCCCAATCCGTTA	0.403													T	57682891	C	T	57682891	3	4	364	1	0	0	0	0	1	0	0	0	4551	623	22	2	2122	2	DHX40	17	57682891	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38808	57682891	23512319	12573	36075											
CLTC	1213	broad.mit.edu	37	chr17	57746275	57746275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagaaagcaactgctacgatCctgagcgagtcaagaatttt	14	9	10	8	2	1	3	1	1	0	2	2	6	2	3	1	0	5	2	1	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57746275C>T	ENST00000269122.3	+	14	2540	c.2266C>T	c.(2266-2268)Cct>Tct	p.P756S	CLTC_ENST00000393043.1_Missense_Mutation_p.P756S|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	756	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					CTGCTACGATCCTGAGCGAGT	0.413			T	"ALK, TFE3"	"ALCL, renal "								T	57746275	C	T	57746275	3	4	364	1	0	0	0	0	1	0	0	0	3597	855	30	2	2320	2	CLTC	17	57746275	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63384	57746275	23448935	12574	36076											
CLTC	1213	broad.mit.edu	37	chr17	57760372	57760372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaacttatcaactactaTcaggtattaacgagactttt	15	13	6	7	1	2	2	2	0	0	2	2	4	2	2	0	1	4	1	0	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57760372T>C	ENST00000269122.3	+	24	4144	c.3870T>C	c.(3868-3870)taT>taC	p.Y1290Y	CLTC_ENST00000393043.1_Silent_p.Y1290Y|CLTC_ENST00000579456.1_Silent_p.Y227Y	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1290	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TCAACTACTATCAGGTATTAA	0.368			T	"ALK, TFE3"	"ALCL, renal "								C	57760372	T	C	57760372	2	2	364	1	0	0	0	0	0	0	0	1	3597	1442	50	3		3	CLTC	17	57760372	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14097	57760372	23434838	12575	36077											
CLTC	1213	broad.mit.edu	37	chr17	57762508	57762508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaactcattgagttcaggaGaattgctgcttatctcttca	10	15	8	8	0	4	3	3	2	1	1	5	4	4	3	0	1	3	3	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57762508G>A	ENST00000269122.3	+	29	4800	c.4526G>A	c.(4525-4527)aGa>aAa	p.R1509K	CLTC_ENST00000393043.1_Missense_Mutation_p.R1509K|CLTC_ENST00000579456.1_Missense_Mutation_p.R446K	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	1509	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GAGTTCAGGAGAATTGCTGCT	0.418			T	"ALK, TFE3"	"ALCL, renal "								A	57762508	G	A	57762508	3	1	364	1	0	0	0	0	1	0	0	0	3597	942	33	2	4640	2	CLTC	17	57762508	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2136	57762508	23432702	12576	36078											
TUBD1	51174	broad.mit.edu	37	chr17	57941091	57941091	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttactaagaactggctgTtgctgaccaacactgcagac	11	11	9	10	0	0	3	0	1	0	2	0	3	0	3	1	1	5	5	1	1	4	4	rs76302921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57941091T>G	ENST00000325752.3	-	8	1470	c.1193A>C	c.(1192-1194)aAc>aCc	p.N398T	TUBD1_ENST00000394239.3_Intron|TUBD1_ENST00000592426.1_Missense_Mutation_p.N398T|TUBD1_ENST00000376094.4_Missense_Mutation_p.N296T|TUBD1_ENST00000340993.6_Missense_Mutation_p.N343T|TUBD1_ENST00000346141.6_Missense_Mutation_p.N144T|TUBD1_ENST00000539018.1_Missense_Mutation_p.N182T	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	398				N -> D (in Ref. 3; BAB14825).	cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			GAACTGGCTGTTGCTGACCAA	0.398													G	57941091	T	G	57941091	3	3	364	1	0	0	0	0	1	0	0	0	16864	1725	60	5	176	5	TUBD1	17	57941091	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178583	57941091	23254119	12577	36079											
TUBD1	51174	broad.mit.edu	37	chr17	57943976	57943976	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatttcttacccacatCtgcactttgcacatctttcc	8	15	3	15	0	3	1	0	1	3	0	4	1	4	1	3	0	3	2	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:57943976C>A	ENST00000325752.3	-	7	1346	c.1069G>T	c.(1069-1071)Gat>Tat	p.D357Y	TUBD1_ENST00000394239.3_Missense_Mutation_p.D357Y|TUBD1_ENST00000592426.1_Missense_Mutation_p.D357Y|TUBD1_ENST00000376094.4_Intron|TUBD1_ENST00000340993.6_Missense_Mutation_p.D302Y|TUBD1_ENST00000346141.6_Missense_Mutation_p.D103Y|TUBD1_ENST00000539018.1_Missense_Mutation_p.D141Y	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	357					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTACCCACATCTGCACTTTGC	0.373													A	57943976	C	A	57943976	3	1	364	1	0	0	0	0	1	0	0	0	16864	913	32	4	304	4	TUBD1	17	57943976	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2885	57943976	23251234	12578	36080											
RPS6KB1	6198	broad.mit.edu	37	chr17	58024066	58024066	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcggcaccacttccaataCgacagccgaactctgggcca	11	6	8	16	3	1	0	0	0	1	0	3	2	2	0	4	2	3	1	4	2	3	2	rs149039467		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58024066C>T	ENST00000225577.4	+	15	1516	c.1495C>T	c.(1495-1497)Cga>Tga	p.R499*	RPS6KB1_ENST00000406116.3_Intron|RPS6KB1_ENST00000393021.3_Nonsense_Mutation_p.R446*|RPS6KB1_ENST00000443572.2_Nonsense_Mutation_p.R476*|RP11-178C3.1_ENST00000591035.1_Intron	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	499	Autoinhibitory domain.				apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTTCCAATACGACAGCCGAA	0.473													T	58024066	C	T	58024066	4	4	364	1	0	0	0	0	0	1	0	0	13747	528	19	1	1553	1	RPS6KB1	17	58024066	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80090	58024066	23171144	12579	36081											
HEATR6	63897	broad.mit.edu	37	chr17	58121016	58121016	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaagcccatgatggcccTtctggctgtgtctccagttg	8	12	10	11	0	2	1	0	1	2	0	3	1	2	1	3	2	1	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121016T>G	ENST00000184956.6	-	20	3470	c.3454A>C	c.(3454-3456)Agg>Cgg	p.R1152R	HEATR6_ENST00000585976.1_Silent_p.R1040R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	1152							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			ATGATGGCCCTTCTGGCTGTG	0.527													G	58121016	T	G	58121016	2	3	364	1	0	0	0	0	0	0	0	1	7088	1608	56	5		5	HEATR6	17	58121016	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	96950	58121016	23074194	12580	36082											
HEATR6	63897	broad.mit.edu	37	chr17	58121478	58121478	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcattgtaggcctgggAggtccatggggctgtcccta	6	9	16	10	0	0	0	0	0	0	0	2	1	2	1	3	6	0	3	3	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58121478A>G	ENST00000184956.6	-	20	3008	c.2992T>C	c.(2992-2994)Tcc>Ccc	p.S998P	HEATR6_ENST00000585976.1_Missense_Mutation_p.S886P	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	998							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TAGGCCTGGGAGGTCCATGGG	0.532													G	58121478	A	G	58121478	3	3	364	1	0	0	0	0	1	0	0	0	7088	304	11	3	557	3	HEATR6	17	58121478	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	462	58121478	23073732	12581	36083											
HEATR6	63897	broad.mit.edu	37	chr17	58125691	58125691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggctcgaacattcagaGacttgtcttcaagtgacatc	10	13	8	10	1	3	2	2	1	1	1	5	4	3	2	0	1	1	1	0	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58125691G>T	ENST00000184956.6	-	17	2622	c.2606C>A	c.(2605-2607)tCt>tAt	p.S869Y	HEATR6_ENST00000585976.1_Missense_Mutation_p.S757Y	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	869							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AACATTCAGAGACTTGTCTTC	0.453													T	58125691	G	T	58125691	3	4	364	1	0	0	0	0	1	0	0	0	7088	942	33	4	955	4	HEATR6	17	58125691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4213	58125691	23069519	12582	36084											
HEATR6	63897	broad.mit.edu	37	chr17	58133519	58133519	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggatctgcttcccccatgCacttgcaaatcacctctcca	9	11	5	16	0	3	0	1	0	2	0	5	1	4	1	4	1	3	3	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58133519C>A	ENST00000184956.6	-	13	2175	c.2159G>T	c.(2158-2160)tGc>tTc	p.C720F	HEATR6_ENST00000585976.1_Intron	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	720							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			TTCCCCCATGCACTTGCAAAT	0.428													A	58133519	C	A	58133519	3	1	364	1	0	0	0	0	1	0	0	0	7088	710	25	4	1418	4	HEATR6	17	58133519	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7828	58133519	23061691	12583	36085											
HEATR6	63897	broad.mit.edu	37	chr17	58134674	58134674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccagaagaacatggcTgttgcagaagtagttggact	12	9	13	7	1	0	3	0	0	0	3	1	5	1	4	1	2	2	5	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58134674T>C	ENST00000184956.6	-	12	1830	c.1814A>G	c.(1813-1815)cAg>cGg	p.Q605R	HEATR6_ENST00000585976.1_Missense_Mutation_p.Q605R	NM_022070.4	NP_071353.4	Q6AI08	HEAT6_HUMAN	HEAT repeat containing 6	605							binding			NS(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	44	all_cancers(5;2.25e-13)|Breast(5;4.84e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		BRCA - Breast invasive adenocarcinoma(1;5.93e-19)|Epithelial(12;7.59e-12)|all cancers(12;1.26e-10)			AGAACATGGCTGTTGCAGAAG	0.502													C	58134674	T	C	58134674	3	2	364	1	0	0	0	0	1	0	0	0	7088	1580	55	3	1767	3	HEATR6	17	58134674	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1155	58134674	23060536	12584	36086											
USP32	84669	broad.mit.edu	37	chr17	58260799	58260799	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatttacaaattgaaatcGcttaaggtgaataatctgga	16	12	7	6	1	1	2	0	2	1	0	2	3	1	3	1	2	1	1	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58260799G>A	ENST00000300896.4	-	31	4044	c.3850C>T	c.(3850-3852)Cga>Tga	p.R1284*	USP32_ENST00000592339.1_Nonsense_Mutation_p.R954*	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1284					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			AATTGAAATCGCTTAAGGTGA	0.343													A	58260799	G	A	58260799	4	1	364	1	0	0	0	0	0	1	0	0	17165	1095	38	1	980	1	USP32	17	58260799	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126125	58260799	22934411	12585	36087											
USP32	84669	broad.mit.edu	37	chr17	58267980	58267980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgggatcccaatccacagCgatataggcatttccaatga	12	10	9	10	1	0	1	0	1	0	0	3	3	3	2	3	2	1	1	3	2	4	3	rs145667783		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58267980C>T	ENST00000300896.4	-	29	3780	c.3586G>A	c.(3586-3588)Gct>Act	p.A1196T	USP32_ENST00000592339.1_Missense_Mutation_p.A866T	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1196					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			CAATCCACAGCGATATAGGCA	0.423													T	58267980	C	T	58267980	3	4	364	1	0	0	0	0	1	0	0	0	17165	768	27	1	1252	1	USP32	17	58267980	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7181	58267980	22927230	12586	36088											
USP32	84669	broad.mit.edu	37	chr17	58275770	58275770	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaaagaggctggggcgattCttctgagatgacaggaaata	13	8	13	7	1	2	3	0	2	2	2	2	6	2	4	1	4	0	1	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58275770C>T	ENST00000300896.4	-	27	3479	c.3285G>A	c.(3283-3285)aaG>aaA	p.K1095K	USP32_ENST00000592339.1_Silent_p.K765K	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1095					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGGGGCGATTCTTCTGAGATG	0.443													T	58275770	C	T	58275770	2	4	364	1	0	0	0	0	0	0	0	1	17165	912	32	2		2	USP32	17	58275770	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7790	58275770	22919440	12587	36089											
APPBP2	10513	broad.mit.edu	37	chr17	58538038	58538038	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttacagtgcattgtcaaaTttcccagagctatactggtg	11	13	8	9	0	1	1	1	0	0	1	2	1	2	1	1	1	4	2	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58538038T>G	ENST00000083182.3	-	9	1334	c.1047A>C	c.(1045-1047)aaA>aaC	p.K349N	APPBP2_ENST00000592995.1_5'UTR	NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	349					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CATTGTCAAATTTCCCAGAGC	0.368													G	58538038	T	G	58538038	3	3	364	1	0	0	0	0	1	0	0	0	819	1490	52	5	730	5	APPBP2	17	58538038	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	262268	58538038	22657172	12588	36090											
PPM1D	8493	broad.mit.edu	37	chr17	58701094	58701094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaggaaagagaacgaatcGaaggacttggtgggaggtaa	16	5	15	5	2	0	1	0	0	0	1	1	7	0	4	1	5	1	1	1	5	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58701094G>A	ENST00000305921.3	+	2	917	c.685G>A	c.(685-687)Gaa>Aaa	p.E229K		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	229	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			AGAACGAATCGAAGGACTTGG	0.433													A	58701094	G	A	58701094	3	1	364	1	0	0	0	0	1	0	0	0	12419	1059	37	1	691	1	PPM1D	17	58701094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163056	58701094	22494116	12589	36091											
PPM1D	8493	broad.mit.edu	37	chr17	58734076	58734076	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaatctgcatctctccagaAgtggacaatcagggaaactt	13	10	9	9	0	3	1	1	0	2	1	5	3	4	3	1	2	2	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58734076A>G	ENST00000305921.3	+	5	1366	c.1134A>G	c.(1132-1134)gaA>gaG	p.E378E		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	378	PP2C-like.				negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TCTCTCCAGAAGTGGACAATC	0.463													G	58734076	A	G	58734076	2	3	364	1	0	0	0	0	0	0	0	1	12419	69	3	3		3	PPM1D	17	58734076	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32982	58734076	22461134	12590	36092											
BCAS3	54828	broad.mit.edu	37	chr17	58952033	58952033	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaattttaggatccttgtcGtagtcttgcaggagaaaatt	11	15	9	6	1	1	1	0	0	1	1	3	3	2	2	1	2	1	2	1	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:58952033G>A	ENST00000589222.1	+	9	663	c.595G>A	c.(595-597)Gta>Ata	p.V199I	BCAS3_ENST00000408905.3_Missense_Mutation_p.V199I|BCAS3_ENST00000407086.3_Missense_Mutation_p.V199I|BCAS3_ENST00000390652.5_Missense_Mutation_p.V199I|BCAS3_ENST00000588462.1_Missense_Mutation_p.V199I			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	199				VV -> II (in Ref. 2; BAB15156).		nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GATCCTTGTCGTAGTCTTGCA	0.323													A	58952033	G	A	58952033	3	1	364	1	0	0	0	0	1	0	0	0	1357	1145	40	1	625	1	BCAS3	17	58952033	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	217957	58952033	22243177	12591	36093											
BCAS3	54828	broad.mit.edu	37	chr17	59067480	59067480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtagtgaatcgcatgagccGtttccagaaaagtgctggac	12	9	12	8	2	0	3	0	2	0	1	2	4	1	4	2	1	2	4	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59067480G>A	ENST00000589222.1	+	15	1438	c.1370G>A	c.(1369-1371)cGt>cAt	p.R457H	BCAS3_ENST00000408905.3_Missense_Mutation_p.R457H|BCAS3_ENST00000585744.1_Missense_Mutation_p.R228H|BCAS3_ENST00000588874.1_Missense_Mutation_p.R228H|BCAS3_ENST00000407086.3_Missense_Mutation_p.R457H|BCAS3_ENST00000390652.5_Missense_Mutation_p.R457H|BCAS3_ENST00000588462.1_Missense_Mutation_p.R457H			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	457						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CGCATGAGCCGTTTCCAGAAA	0.512													A	59067480	G	A	59067480	3	1	364	1	0	0	0	0	1	0	0	0	1357	1145	40	1	1424	1	BCAS3	17	59067480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	115447	59067480	22127730	12592	36094											
BCAS3	54828	broad.mit.edu	37	chr17	59112048	59112048	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagttaaacctcctccacaAatttcacccagcaaatcgat	16	9	3	13	1	1	0	1	0	0	0	4	1	3	0	4	0	2	2	4	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59112048A>G	ENST00000589222.1	+	17	1727	c.1659A>G	c.(1657-1659)caA>caG	p.Q553Q	BCAS3_ENST00000408905.3_Silent_p.Q553Q|BCAS3_ENST00000585744.1_Silent_p.Q339Q|BCAS3_ENST00000588874.1_Silent_p.Q324Q|BCAS3_ENST00000407086.3_Silent_p.Q553Q|BCAS3_ENST00000390652.5_Silent_p.Q568Q|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Silent_p.Q568Q			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	568						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTCCTCCACAAATTTCACCCA	0.353													G	59112048	A	G	59112048	2	3	364	1	0	0	0	0	0	0	0	1	1357	11	1	3		3	BCAS3	17	59112048	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	44568	59112048	22083162	12593	36095											
BCAS3	54828	broad.mit.edu	37	chr17	59115389	59115389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggaaatgatgacatcGcctcgagccagctggactct	10	8	10	13	2	1	2	0	2	1	0	3	5	1	4	3	2	2	1	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59115389G>A	ENST00000589222.1	+	18	1970	c.1902G>A	c.(1900-1902)tcG>tcA	p.S634S	BCAS3_ENST00000408905.3_Silent_p.S634S|BCAS3_ENST00000585744.1_Silent_p.S420S|BCAS3_ENST00000588874.1_Silent_p.S405S|BCAS3_ENST00000407086.3_Silent_p.S634S|BCAS3_ENST00000390652.5_Silent_p.S649S|RP11-264B14.1_ENST00000588604.1_RNA|BCAS3_ENST00000588462.1_Silent_p.S649S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	649						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGATGACATCGCCTCGAGCCA	0.438													A	59115389	G	A	59115389	2	1	364	1	0	0	0	0	0	0	0	1	1357	1074	38	1		1	BCAS3	17	59115389	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3341	59115389	22079821	12594	36096											
BCAS3	54828	broad.mit.edu	37	chr17	59457913	59457913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcccccctgagagacaCgtggcagtgaagtgttttgg	8	10	12	11	1	0	3	0	2	0	1	1	4	1	3	4	2	0	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59457913C>T	ENST00000589222.1	+	24	2708	c.2640C>T	c.(2638-2640)caC>caT	p.H880H	BCAS3_ENST00000408905.3_Silent_p.H880H|BCAS3_ENST00000585744.1_Intron|BCAS3_ENST00000588874.1_Intron|BCAS3_ENST00000585812.1_3'UTR|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Intron|BCAS3_ENST00000390652.5_Intron|BCAS3_ENST00000588462.1_Silent_p.H895H			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	0						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			CTGAGAGACACGTGGCAGTGA	0.463													T	59457913	C	T	59457913	2	4	364	1	0	0	0	0	0	0	0	1	1357	551	19	1		1	BCAS3	17	59457913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	342524	59457913	21737297	12595	36097											
BCAS3	54828	broad.mit.edu	37	chr17	59469378	59469378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgagactctgagtaacagCtcaggctccaccagcggcag	11	6	11	13	2	2	2	1	1	1	1	4	3	3	2	2	2	3	4	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59469378C>T	ENST00000588462.1	+	25	2745	c.2745C>T	c.(2743-2745)agC>agT	p.S915S	BCAS3_ENST00000408905.3_Silent_p.S900S|BCAS3_ENST00000589222.1_3'UTR|BCAS3_ENST00000585744.1_Silent_p.S664S|BCAS3_ENST00000588874.1_Silent_p.S649S|BCAS3_ENST00000585812.1_3'UTR|RP11-332H18.5_ENST00000585765.1_RNA|BCAS3_ENST00000407086.3_Silent_p.S878S|BCAS3_ENST00000390652.5_Silent_p.S893S			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	893						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGAGTAACAGCTCAGGCTCCA	0.597													T	59469378	C	T	59469378	2	4	364	1	0	0	0	0	0	0	0	1	1357	796	28	2		2	BCAS3	17	59469378	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11465	59469378	21725832	12596	36098											
INTS2	57508	broad.mit.edu	37	chr17	59955432	59955432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcacttgtgtgttatttaCtgggacagctgaaaatgcta	11	14	9	7	0	1	1	1	1	0	0	1	2	1	2	0	1	3	3	0	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:59955432C>A	ENST00000444766.3	-	18	2371	c.2296G>T	c.(2296-2298)Gta>Tta	p.V766L	INTS2_ENST00000251334.6_Missense_Mutation_p.V758L	NM_020748.2	NP_065799	Q9H0H0	INT2_HUMAN	integrator complex subunit 2	766					snRNA processing	integral to membrane|integrator complex|nuclear membrane	protein binding			NS(1)|breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	38						GTGTTATTTACTGGGACAGCT	0.363													A	59955432	C	A	59955432	3	1	364	1	0	0	0	0	1	0	0	0	7836	565	20	4	1350	4	INTS2	17	59955432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	486054	59955432	21239778	12597	36099											
MED13	9969	broad.mit.edu	37	chr17	60060019	60060019	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctatattgtgcttcctgCgttggatctggaatgtaaac	9	14	9	9	1	1	0	0	0	1	0	2	2	2	2	2	2	3	3	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60060019C>T	ENST00000397786.2	-	16	3421	c.3345G>A	c.(3343-3345)acG>acA	p.T1115T		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	1115					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GTGCTTCCTGCGTTGGATCTG	0.378													T	60060019	C	T	60060019	2	4	364	1	0	0	0	0	0	0	0	1	9505	755	27	1		1	MED13	17	60060019	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104587	60060019	21135191	12598	36100											
MED13	9969	broad.mit.edu	37	chr17	60072628	60072628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattttaggttcttgttctGcatcagatgctattgctgaa	9	17	8	7	0	3	2	1	1	2	1	3	2	3	2	0	1	3	5	0	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60072628G>A	ENST00000397786.2	-	10	2142	c.2066C>T	c.(2065-2067)gCa>gTa	p.A689V		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	689					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTCTTGTTCTGCATCAGATGC	0.333													A	60072628	G	A	60072628	3	1	364	1	0	0	0	0	1	0	0	0	9505	1319	46	2	4542	2	MED13	17	60072628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12609	60072628	21122582	12599	36101											
MED13	9969	broad.mit.edu	37	chr17	60108947	60108947	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggctaggagtaggaatGtctgactgagggactagaac	13	7	15	6	0	1	3	0	2	1	1	1	6	1	6	0	4	1	2	0	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60108947G>A	ENST00000397786.2	-	6	943	c.867C>T	c.(865-867)gaC>gaT	p.D289D	MED13_ENST00000580896.1_5'UTR	NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	289					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						GAGTAGGAATGTCTGACTGAG	0.483													A	60108947	G	A	60108947	2	1	364	1	0	0	0	0	0	0	0	1	9505	1368	48	2		2	MED13	17	60108947	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36319	60108947	21086263	12600	36102											
METTL2A	339175	broad.mit.edu	37	chr17	60504004	60504004	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatcctcagccacctacCgaatactggaggtaaccttt	10	10	8	13	1	1	0	1	0	0	0	2	3	2	2	5	3	4	1	5	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60504004C>T	ENST00000311506.5	+	3	583	c.547C>T	c.(547-549)Cga>Tga	p.R183*		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	183							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AGCCACCTACCGAATACTGGA	0.408													T	60504004	C	T	60504004	4	4	364	1	0	0	0	0	0	1	0	0	9574	644	23	1	557	1	METTL2A	17	60504004	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	395057	60504004	20691206	12601	36103											
TLK2	11011	broad.mit.edu	37	chr17	60678165	60678165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaacctcccatcatacaCtatgacctcaaaccaggtat	16	9	3	13	0	2	1	2	1	0	0	3	1	3	1	4	1	3	1	4	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60678165C>A	ENST00000582809.1	+	19	1960	c.1257C>A	c.(1255-1257)caC>caA	p.H419Q	TLK2_ENST00000326270.9_Missense_Mutation_p.H590Q|TLK2_ENST00000542523.1_Missense_Mutation_p.H536Q|TLK2_ENST00000346027.5_Missense_Mutation_p.H568Q|TLK2_ENST00000343388.7_Missense_Mutation_p.H536Q			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	590					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						CCATCATACACTATGACCTCA	0.343													A	60678165	C	A	60678165	3	1	364	1	0	0	0	0	1	0	0	0	16044	564	20	4	1770	4	TLK2	17	60678165	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174161	60678165	20517045	12602	36104											
MRC2	9902	broad.mit.edu	37	chr17	60749358	60749358	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcctgctgcacccccaGaggtggaggagctgtggatc	6	8	13	14	0	1	1	0	0	1	1	3	4	1	4	4	4	3	3	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60749358G>T	ENST00000303375.5	+	8	1708		c.e8-1			NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2						endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						TGCACCCCCAGAGGTGGAGGA	0.557													T	60749358	G	T	60749358	5	4	364	1	0	0	0	0	0	0	1	0	9834	956	33	4	1336	4	MRC2	17	60749358	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71193	60749358	20445852	12603	36105											
MRC2	9902	broad.mit.edu	37	chr17	60765893	60765893	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcccaatgtgacCtttgacctttggattggcct	6	12	10	13	0	0	2	0	2	0	0	0	3	0	3	6	2	2	0	6	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60765893C>A	ENST00000303375.5	+	22	3495	c.3093C>A	c.(3091-3093)acC>acA	p.T1031T	MRC2_ENST00000446119.2_5'UTR	NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	1031	C-type lectin 6.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CCAATGTGACCTTTGACCTTT	0.552													A	60765893	C	A	60765893	2	1	364	1	0	0	0	0	0	0	0	1	9834	668	24	4		4	MRC2	17	60765893	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16535	60765893	20429317	12604	36106											
MARCH10	162333	broad.mit.edu	37	chr17	60813930	60813930	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtatccttcagaatcatgGgtgccaggcctatgttccac	9	11	9	12	0	2	1	2	0	0	1	4	1	4	1	4	2	1	2	4	2	3	4	rs147951735	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60813930G>T	ENST00000544856.2	-	7	1674	c.1296C>A	c.(1294-1296)acC>acA	p.T432T	MARCH10_ENST00000311269.5_Silent_p.T433T|RP11-156L14.1_ENST00000577270.1_RNA|MARCH10_ENST00000583600.1_Silent_p.T471T|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.T433T			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	433							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAGAATCATGGGTGCCAGGCC	0.418													T	60813930	G	T	60813930	2	4	364	1	0	0	0	0	0	0	0	1	9374	1219	43	4		4	MARCH10	17	60813930	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48037	60813930	20381280	12605	36107											
MARCH10	162333	broad.mit.edu	37	chr17	60865889	60865889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggatctctcaaaacttgtCtcttgcccccaaaactgatc	10	11	6	14	1	3	1	1	1	2	0	6	2	3	2	2	1	3	0	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60865889C>A	ENST00000544856.2	-	4	540	c.162G>T	c.(160-162)gaG>gaT	p.E54D	MARCH10_ENST00000311269.5_Missense_Mutation_p.E54D|MARCH10_ENST00000583600.1_Missense_Mutation_p.E54D|MARCH10_ENST00000456609.2_Missense_Mutation_p.E54D			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	54							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAAAACTTGTCTCTTGCCCCC	0.463													A	60865889	C	A	60865889	3	1	364	1	0	0	0	0	1	0	0	0	9374	912	32	4	2300	4	MARCH10	17	60865889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51959	60865889	20329321	12606	36108											
MARCH10	162333	broad.mit.edu	37	chr17	60879033	60879033	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagtccaccttatgctGcatgtcccgcagatactgaa	10	10	8	13	1	1	3	1	1	0	2	3	3	3	3	3	0	3	3	3	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:60879033G>A	ENST00000544856.2	-	3	442	c.64C>T	c.(64-66)Cag>Tag	p.Q22*	MARCH10_ENST00000311269.5_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000583600.1_Nonsense_Mutation_p.Q22*|MARCH10_ENST00000456609.2_Nonsense_Mutation_p.Q22*			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	22							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						ACCTTATGCTGCATGTCCCGC	0.438													A	60879033	G	A	60879033	4	1	364	1	0	0	0	0	0	1	0	0	9374	1328	46	2	2402	2	MARCH10	17	60879033	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13144	60879033	20316177	12607	36109											
TANC2	26115	broad.mit.edu	37	chr17	61392000	61392000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaaggatgagacagatcGcctcagacagcccacatgcc	13	5	10	13	1	1	3	1	1	0	3	2	5	1	4	3	1	3	1	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61392000G>A	ENST00000424789.2	+	8	1193	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	AC037445.1_ENST00000581421.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.A397T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	397							binding	p.A397T(2)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GAGACAGATCGCCTCAGACAG	0.473													A	61392000	G	A	61392000	3	1	364	1	0	0	0	0	1	0	0	0	15642	1087	38	1	1219	1	TANC2	17	61392000	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	512967	61392000	19803210	12608	36110											
TANC2	26115	broad.mit.edu	37	chr17	61498030	61498030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagtctggttcacccgtgCgctatcagcaggaaacaagc	10	7	10	14	2	3	0	2	0	1	0	3	1	3	1	2	2	4	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498030C>T	ENST00000424789.2	+	25	4691	c.4687C>T	c.(4687-4689)Cgc>Tgc	p.R1563C	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1573C	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1563							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TTCACCCGTGCGCTATCAGCA	0.577													T	61498030	C	T	61498030	3	4	364	1	0	0	0	0	1	0	0	0	15642	768	27	1	4785	1	TANC2	17	61498030	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106030	61498030	19697180	12609	36111											
TANC2	26115	broad.mit.edu	37	chr17	61498942	61498942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccaccagcagaatcggAcctgggcagtgtcatctgtg	9	8	11	13	1	2	1	1	0	1	1	4	2	3	2	4	2	1	2	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61498942A>G	ENST00000424789.2	+	25	5603	c.5599A>G	c.(5599-5601)Acc>Gcc	p.T1867A	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.T1877A	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1867							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						GCAGAATCGGACCTGGGCAGT	0.577													G	61498942	A	G	61498942	3	3	364	1	0	0	0	0	1	0	0	0	15642	275	10	3	5697	3	TANC2	17	61498942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	912	61498942	19696268	12610	36112											
TANC2	26115	broad.mit.edu	37	chr17	61499143	61499143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacgggtctcgtggagacCtcttggagcgagtcagccag	8	8	14	11	3	3	1	1	0	2	1	4	4	3	2	2	3	3	0	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61499143C>A	ENST00000424789.2	+	25	5804	c.5800C>A	c.(5800-5802)Ctc>Atc	p.L1934I	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.L1944I	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1934							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						TCGTGGAGACCTCTTGGAGCG	0.542													A	61499143	C	A	61499143	3	1	364	1	0	0	0	0	1	0	0	0	15642	681	24	4	5898	4	TANC2	17	61499143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201	61499143	19696067	12611	36113											
CYB561	1534	broad.mit.edu	37	chr17	61511949	61511949	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgggctcaaatgcgctataCttgcccctgcaggggtgaga	8	9	13	11	2	1	1	1	1	0	1	2	2	1	1	2	3	4	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61511949C>A	ENST00000392976.1	-	6	869	c.570G>T	c.(568-570)aaG>aaT	p.K190N	CYB561_ENST00000584031.1_3'UTR|CYB561_ENST00000582297.1_Intron|CYB561_ENST00000582997.1_Missense_Mutation_p.K197N|CYB561_ENST00000581573.1_Missense_Mutation_p.K190N|CYB561_ENST00000542042.1_Missense_Mutation_p.K257N|CYB561_ENST00000392975.2_Missense_Mutation_p.K190N|CYB561_ENST00000360793.3_Missense_Mutation_p.K190N|CYB561_ENST00000448884.2_Missense_Mutation_p.V138L|CYB561_ENST00000582034.1_Missense_Mutation_p.K161N|CYB561_ENST00000581163.1_5'UTR	NM_001017916.1	NP_001017916.1	P49447	CY561_HUMAN	cytochrome b561	190	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		ATGCGCTATACTTGCCCCTGC	0.602													A	61511949	C	A	61511949	3	1	364	1	0	0	0	0	1	0	0	0	4152	564	20	4	189	4	CYB561	17	61511949	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12806	61511949	19683261	12612	36114											
CYB561	1534	broad.mit.edu	37	chr17	61513147	61513147	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtagtcgaacaccgccaCcaagcctgggccagagacag	11	4	13	13	2	0	1	0	0	0	1	1	3	0	1	5	2	2	1	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61513147C>T	ENST00000584031.1	-	4	653	c.354G>A	c.(352-354)tgG>tgA	p.W118*	CYB561_ENST00000392976.1_Missense_Mutation_p.V103M|CYB561_ENST00000582297.1_Missense_Mutation_p.V103M|CYB561_ENST00000582997.1_Missense_Mutation_p.V110M|CYB561_ENST00000581573.1_Missense_Mutation_p.V103M|CYB561_ENST00000542042.1_Missense_Mutation_p.V170M|CYB561_ENST00000392975.2_Missense_Mutation_p.V103M|CYB561_ENST00000360793.3_Missense_Mutation_p.V103M|CYB561_ENST00000448884.2_Missense_Mutation_p.V103M|CYB561_ENST00000582034.1_Missense_Mutation_p.V74M|CYB561_ENST00000581163.1_5'UTR			P49447	CY561_HUMAN	cytochrome b561	0	Cytochrome b561.				electron transport chain|transport	integral to plasma membrane	cytochrome-b5 reductase activity|ferric-chelate reductase activity|metal ion binding			lung(2)|ovary(1)|prostate(1)	4				READ - Rectum adenocarcinoma(1115;0.0689)		AACACCGCCACCAAGCCTGGG	0.557													T	61513147	C	T	61513147	4	4	364	1	0	0	0	0	0	1	0	0	4152	507	18	2	460	2	CYB561	17	61513147	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1198	61513147	19682063	12613	36115											
ACE	1636	broad.mit.edu	37	chr17	61570881	61570881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccagtatttcatgcagtaCaaagacttacctgtggcctt	11	13	7	10	0	1	1	1	0	0	1	2	1	2	1	3	1	3	3	3	1	4	5	rs146046369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61570881C>T	ENST00000577647.1	+	9	1320	c.1275C>T	c.(1273-1275)taC>taT	p.Y425Y	ACE_ENST00000413513.3_Silent_p.Y425Y|ACE_ENST00000428043.1_Silent_p.Y999Y|ACE_ENST00000290866.4_Silent_p.Y999Y|ACE_ENST00000290863.6_Silent_p.Y425Y|ACE_ENST00000490216.2_Silent_p.Y425Y|ACE_ENST00000421982.2_Silent_p.Y245Y			P12821	ACE_HUMAN	angiotensin I converting enzyme	999	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TCATGCAGTACAAAGACTTAC	0.572													T	61570881	C	T	61570881	2	4	364	1	0	0	0	0	0	0	0	1	136	489	17	2		2	ACE	17	61570881	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57734	61570881	19624329	12614	36116											
KCNH6	81033	broad.mit.edu	37	chr17	61601540	61601540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgctcagatggagaactgCgccatcatttactgcaacga	13	9	9	10	2	2	2	2	0	0	2	2	4	2	2	1	1	6	2	1	1	4	2	rs140752880		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61601540C>T	ENST00000583023.1	+	2	128	c.117C>T	c.(115-117)tgC>tgT	p.C39C	KCNH6_ENST00000456941.2_Silent_p.C39C|KCNH6_ENST00000580652.1_Silent_p.C39C|KCNH6_ENST00000581784.1_Silent_p.C39C|KCNH6_ENST00000314672.5_Silent_p.C39C	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	39					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGAGAACTGCGCCATCATTT	0.597													T	61601540	C	T	61601540	2	4	364	1	0	0	0	0	0	0	0	1	8094	776	27	1		1	KCNH6	17	61601540	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30659	61601540	19593670	12615	36117											
KCNH6	81033	broad.mit.edu	37	chr17	61611329	61611329	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccatcctgcactacaGccccttcaaggccgtgtggg	7	8	11	15	1	1	0	1	0	0	0	2	1	2	1	5	3	3	1	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61611329G>T	ENST00000583023.1	+	5	769	c.758G>T	c.(757-759)aGc>aTc	p.S253I	KCNH6_ENST00000581784.1_Missense_Mutation_p.S253I|KCNH6_ENST00000314672.5_Missense_Mutation_p.S253I|KCNH6_ENST00000456941.2_Missense_Mutation_p.S253I|KCNH6_ENST00000580652.1_Missense_Mutation_p.S253I	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	253					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	CTGCACTACAGCCCCTTCAAG	0.662													T	61611329	G	T	61611329	3	4	364	1	0	0	0	0	1	0	0	0	8094	971	34	4	776	4	KCNH6	17	61611329	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9789	61611329	19583881	12616	36118											
KCNH6	81033	broad.mit.edu	37	chr17	61623025	61623025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcacaggaactcctcccCcaggatgcctcacctggctg	10	6	9	16	0	1	0	1	0	0	0	3	2	3	2	5	3	3	2	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61623025C>A	ENST00000583023.1	+	14	2758	c.2747C>A	c.(2746-2748)cCc>cAc	p.P916H	KCNH6_ENST00000581784.1_Missense_Mutation_p.P827H|KCNH6_ENST00000314672.5_Missense_Mutation_p.P880H|KCNH6_ENST00000456941.2_Missense_Mutation_p.P827H	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	916					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AACTCCTCCCCCAGGATGCCT	0.597													A	61623025	C	A	61623025	3	1	364	1	0	0	0	0	1	0	0	0	8094	623	22	4	2801	4	KCNH6	17	61623025	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11696	61623025	19572185	12617	36119											
DCAF7	10238	broad.mit.edu	37	chr17	61662612	61662612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttccctgcacacctgtcGccaggttaaacaaccatcga	10	8	9	14	2	0	0	0	0	0	0	3	1	1	0	4	2	3	3	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61662612G>A	ENST00000310827.4	+	7	995	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	DCAF7_ENST00000577702.1_3'UTR|DCAF7_ENST00000415273.2_Missense_Mutation_p.A60T|DCAF7_ENST00000431926.1_Intron	NM_005828.3	NP_005819.3	P61962	DCAF7_HUMAN	DDB1 and CUL4 associated factor 7	260					multicellular organismal development	CUL4 RING ubiquitin ligase complex|cytoplasm|nucleus	protein binding			endometrium(6)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)	18						CACACCTGTCGCCAGGTTAAA	0.473													A	61662612	G	A	61662612	3	1	364	1	0	0	0	0	1	0	0	0	4309	1087	38	1	801	1	DCAF7	17	61662612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39587	61662612	19532598	12618	36120											
MAP3K3	4215	broad.mit.edu	37	chr17	61768517	61768517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaacttgcagcatgagcGcatcgtgcagtactatggct	12	9	11	9	2	0	2	0	1	0	1	1	2	0	2	0	1	6	6	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61768517G>A	ENST00000361357.3	+	14	1679	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	MAP3K3_ENST00000579585.1_Missense_Mutation_p.R454H|MAP3K3_ENST00000584573.1_Missense_Mutation_p.R450H|MAP3K3_ENST00000577395.1_Missense_Mutation_p.R419H|MAP3K3_ENST00000361733.3_Missense_Mutation_p.R423H	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	423	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.R423H(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						CAGCATGAGCGCATCGTGCAG	0.577													A	61768517	G	A	61768517	3	1	364	1	0	0	0	0	1	0	0	0	9326	1087	38	1	1415	1	MAP3K3	17	61768517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105905	61768517	19426693	12619	36121											
MAP3K3	4215	broad.mit.edu	37	chr17	61770979	61770979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtatgaagctatggccGccatcttcaagattgccacc	11	9	9	12	1	2	3	1	1	1	2	2	3	2	3	4	1	2	2	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61770979G>A	ENST00000361357.3	+	17	2134	c.1816G>A	c.(1816-1818)Gcc>Acc	p.A606T	MAP3K3_ENST00000579585.1_Missense_Mutation_p.A606T|MAP3K3_ENST00000584573.1_Missense_Mutation_p.A602T|MAP3K3_ENST00000577395.1_Missense_Mutation_p.A571T|MAP3K3_ENST00000361733.3_Missense_Mutation_p.A575T	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	575	Protein kinase.				MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding	p.A575T(1)		breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						AGCTATGGCCGCCATCTTCAA	0.587													A	61770979	G	A	61770979	3	1	364	1	0	0	0	0	1	0	0	0	9326	1087	38	1	1882	1	MAP3K3	17	61770979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2462	61770979	19424231	12620	36122											
LIMD2	80774	broad.mit.edu	37	chr17	61776415	61776415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcaccgtgctgctgccGccgcctttggcgtcctgagg	2	9	14	16	5	0	1	0	1	0	0	1	1	1	1	5	2	4	4	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61776415G>A	ENST00000259006.3	-	3	215	c.57C>T	c.(55-57)ggC>ggT	p.G19G	LIMD2_ENST00000578061.1_Silent_p.G19G|LIMD2_ENST00000582055.1_5'UTR|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000578993.1_Silent_p.G19G|LIMD2_ENST00000578402.1_Silent_p.G19G	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	19							zinc ion binding			kidney(1)|lung(2)	3						TGCTGCTGCCGCCGCCTTTGG	0.736													A	61776415	G	A	61776415	2	1	364	1	0	0	0	0	0	0	0	1	8859	1074	38	1		1	LIMD2	17	61776415	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5436	61776415	19418795	12621	36123											
CCDC47	57003	broad.mit.edu	37	chr17	61833660	61833660	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggatggccaaagagtcCggcagtccatactttgctcc	10	8	11	12	1	0	1	0	0	0	1	3	3	3	2	4	3	2	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61833660C>T	ENST00000225726.5	-	8	1270	c.888G>A	c.(886-888)ccG>ccA	p.P296P	CCDC47_ENST00000582252.1_Silent_p.P296P|CCDC47_ENST00000403162.3_Silent_p.P296P	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	296						integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						CCAAAGAGTCCGGCAGTCCAT	0.423													T	61833660	C	T	61833660	2	4	364	1	0	0	0	0	0	0	0	1	2846	639	23	1		1	CCDC47	17	61833660	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57245	61833660	19361550	12622	36124											
DDX42	11325	broad.mit.edu	37	chr17	61886959	61886959	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagaaagctaccaatCttcaaagagtctcttacctt	16	11	5	9	0	3	3	1	1	2	2	4	3	3	3	2	0	3	1	2	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61886959C>A	ENST00000578681.1	+	12	1793	c.1192C>A	c.(1192-1194)Ctt>Att	p.L398I	DDX42_ENST00000457800.2_Missense_Mutation_p.L398I|DDX42_ENST00000389924.2_Missense_Mutation_p.L398I|DDX42_ENST00000583590.1_Missense_Mutation_p.L398I|DDX42_ENST00000359353.5_Missense_Mutation_p.L279I	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	398	Helicase ATP-binding.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						AGCTACCAATCTTCAAAGAGT	0.378													A	61886959	C	A	61886959	3	1	364	1	0	0	0	0	1	0	0	0	4396	913	32	4	1230	4	DDX42	17	61886959	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53299	61886959	19308251	12623	36125											
DDX42	11325	broad.mit.edu	37	chr17	61895444	61895444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagcgatagtccacgtcacGgagatggtggtcgccatgga	10	8	14	9	4	1	1	1	0	0	1	3	4	2	2	2	4	1	0	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895444G>A	ENST00000578681.1	+	19	3104	c.2503G>A	c.(2503-2505)Gga>Aga	p.G835R	DDX42_ENST00000457800.2_Missense_Mutation_p.G835R|DDX42_ENST00000389924.2_Missense_Mutation_p.G835R|DDX42_ENST00000583590.1_Missense_Mutation_p.G835R|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000359353.5_Missense_Mutation_p.G716R	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	835	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						TCCACGTCACGGAGATGGTGG	0.582													A	61895444	G	A	61895444	3	1	364	1	0	0	0	0	1	0	0	0	4396	1117	39	1	2569	1	DDX42	17	61895444	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8485	61895444	19299766	12624	36126											
DDX42	11325	broad.mit.edu	37	chr17	61895514	61895514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcatactgatggccatcGgcacggggagaacagacatg	11	6	13	11	3	1	3	1	1	0	2	2	4	1	3	2	4	2	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61895514G>A	ENST00000578681.1	+	19	3174	c.2573G>A	c.(2572-2574)cGg>cAg	p.R858Q	DDX42_ENST00000457800.2_Missense_Mutation_p.R858Q|DDX42_ENST00000389924.2_Missense_Mutation_p.R858Q|DDX42_ENST00000583590.1_Missense_Mutation_p.R858Q|DDX42_ENST00000582985.1_Intron|DDX42_ENST00000359353.5_Missense_Mutation_p.R739Q	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	858	Gly-rich.|His-rich.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						GATGGCCATCGGCACGGGGAG	0.567													A	61895514	G	A	61895514	3	1	364	1	0	0	0	0	1	0	0	0	4396	1116	39	1	2639	1	DDX42	17	61895514	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70	61895514	19299696	12625	36127											
FTSJ3	117246	broad.mit.edu	37	chr17	61902614	61902614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcccaccttggcagactaCaaagatctctgcagattcat	12	10	7	12	0	2	3	1	0	1	3	3	3	2	3	2	1	3	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61902614C>T	ENST00000427159.2	-	7	1228	c.583G>A	c.(583-585)Gta>Ata	p.V195I		NM_017647.3	NP_060117.3	Q8IY81	RRMJ3_HUMAN	FtsJ homolog 3 (E. coli)	195					RNA methylation|rRNA processing	nucleolus	methyltransferase activity|nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						TGGCAGACTACAAAGATCTCT	0.498													T	61902614	C	T	61902614	3	4	364	1	0	0	0	0	1	0	0	0	6141	478	17	2	2020	2	FTSJ3	17	61902614	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7100	61902614	19292596	12626	36128											
CSHL1	1444	broad.mit.edu	37	chr17	61987304	61987304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaggagagaccaagcgCttgggcactgttccctccct	10	7	12	12	1	0	2	0	0	0	2	2	5	2	3	3	2	1	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:61987304C>T	ENST00000450719.3	-	3	644	c.407G>A	c.(406-408)aGc>aAc	p.S136N	CSHL1_ENST00000561003.1_Missense_Mutation_p.S147N|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000438387.2_Intron|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						AGACCAAGCGCTTGGGCACTG	0.527													T	61987304	C	T	61987304	3	4	364	1	0	0	0	0	1	0	0	0	3975	812	28	2		2	CSHL1	17	61987304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84690	61987304	19207906	12627	36129											
SCN4A	6329	broad.mit.edu	37	chr17	62018424	62018424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcgctgtagcaggtgccGgcggtaggccctctggatct	5	8	17	11	3	2	0	0	0	2	0	2	2	2	2	2	6	3	4	2	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62018424G>A	ENST00000578147.1	-	24	5294	c.5218C>T	c.(5218-5220)Cgg>Tgg	p.R1740W	SCN4A_ENST00000435607.1_Missense_Mutation_p.R1740W			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1740	IQ.				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCAGGTGCCGGCGGTAGGCC	0.642													A	62018424	G	A	62018424	3	1	364	1	0	0	0	0	1	0	0	0	14013	1115	39	1	296	1	SCN4A	17	62018424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31120	62018424	19176786	12628	36130											
SCN4A	6329	broad.mit.edu	37	chr17	62020442	62020442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacgaggtcatacaccatGccctggatcttgttctgcag	8	11	10	12	1	4	0	2	0	2	0	4	2	4	1	2	2	3	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62020442G>A	ENST00000578147.1	-	23	4108	c.4032C>T	c.(4030-4032)ggC>ggT	p.G1344G	SCN4A_ENST00000435607.1_Silent_p.G1344G			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1344					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	CATACACCATGCCCTGGATCT	0.567													A	62020442	G	A	62020442	2	1	364	1	0	0	0	0	0	0	0	1	14013	1306	46	2		2	SCN4A	17	62020442	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2018	62020442	19174768	12629	36131											
SCN4A	6329	broad.mit.edu	37	chr17	62036796	62036796	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgaagatgcctgtgaaGacctagggggtggcatgagg	9	8	18	6	0	0	5	0	3	0	2	0	5	0	5	2	4	1	2	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62036796G>T	ENST00000578147.1	-	12	1924	c.1848C>A	c.(1846-1848)gtC>gtA	p.V616V	SCN4A_ENST00000435607.1_Silent_p.V616V			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	616					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	TGCCTGTGAAGACCTAGGGGG	0.597													T	62036796	G	T	62036796	2	4	364	1	0	0	0	0	0	0	0	1	14013	929	33	4		4	SCN4A	17	62036796	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16354	62036796	19158414	12630	36132											
SCN4A	6329	broad.mit.edu	37	chr17	62038714	62038714	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaacttcagccacggggCgcagcagttccatatgagca	10	8	11	12	2	1	2	1	2	0	0	2	2	2	2	2	2	4	4	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62038714C>T	ENST00000578147.1	-	11	1760	c.1684G>A	c.(1684-1686)Gcc>Acc	p.A562T	SCN4A_ENST00000435607.1_Missense_Mutation_p.A562T			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	562					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGCCACGGGGCGCAGCAGTTC	0.562													T	62038714	C	T	62038714	3	4	364	1	0	0	0	0	1	0	0	0	14013	768	27	1	3882	1	SCN4A	17	62038714	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1918	62038714	19156496	12631	36133											
ICAM2	3384	broad.mit.edu	37	chr17	62082676	62082676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacctcgagggaccctttgGgctcaaccgccagcttcttt	6	11	10	14	2	2	1	1	1	1	0	3	3	2	2	4	2	2	2	4	2	1	3	rs150482335	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62082676G>A	ENST00000412356.1	-	4	473	c.119C>T	c.(118-120)cCc>cTc	p.P40L	ICAM2_ENST00000418105.1_Missense_Mutation_p.P40L|ICAM2_ENST00000579788.1_Missense_Mutation_p.P40L|ICAM2_ENST00000579687.1_Missense_Mutation_p.P40L|ICAM2_ENST00000449662.2_Missense_Mutation_p.P40L|ICAM2_ENST00000581417.1_5'UTR|ICAM2_ENST00000578892.1_Intron|ICAM2_ENST00000578379.1_5'UTR	NM_001099786.1	NP_001093256.1	P13598	ICAM2_HUMAN	intercellular adhesion molecule 2	40					cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			large_intestine(1)|lung(2)|ovary(1)|skin(2)	6						GGACCCTTTGGGCTCAACCGC	0.557													A	62082676	G	A	62082676	3	1	364	1	0	0	0	0	1	0	0	0	7538	1232	43	2	720	2	ICAM2	17	62082676	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43962	62082676	19112534	12632	36134											
ERN1	2081	broad.mit.edu	37	chr17	62122804	62122804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctaactgcttcacgatcggGccatccagggattccttttc	7	13	8	13	2	2	0	1	0	1	0	6	2	4	1	3	2	2	1	3	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62122804G>A	ENST00000433197.3	-	20	2663	c.2568C>T	c.(2566-2568)ggC>ggT	p.G856G		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		KEN.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TCACGATCGGGCCATCCAGGG	0.562													A	62122804	G	A	62122804	2	1	364	1	0	0	0	0	0	0	0	1	5278	1190	42	2		2	ERN1	17	62122804	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40128	62122804	19072406	12633	36135											
ERN1	2081	broad.mit.edu	37	chr17	62125289	62125289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatgcttcgctgaggggcGtttctgaggatccatcgcaa	8	10	12	11	3	1	2	0	2	1	0	4	3	2	3	1	3	1	4	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62125289G>A	ENST00000433197.3	-	19	2553	c.2458C>T	c.(2458-2460)Cgc>Tgc	p.R820C		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						GCTGAGGGGCGTTTCTGAGGA	0.468													A	62125289	G	A	62125289	3	1	364	1	0	0	0	0	1	0	0	0	5278	1145	40	1	491	1	ERN1	17	62125289	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2485	62125289	19069921	12634	36136											
ERN1	2081	broad.mit.edu	37	chr17	62144287	62144287	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accattggacacaaagtgggAcatctctgtacagatcaaat	15	9	8	9	0	2	1	1	0	1	1	3	3	2	3	1	2	1	1	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62144287A>T	ENST00000433197.3	-	8	681	c.586T>A	c.(586-588)Tcc>Acc	p.S196T		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1						activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						ACAAAGTGGGACATCTCTGTA	0.512													T	62144287	A	T	62144287	3	4	364	1	0	0	0	0	1	0	0	0	5278	275	10	5	2407	5	ERN1	17	62144287	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18998	62144287	19050923	12635	36137											
TEX2	55852	broad.mit.edu	37	chr17	62270986	62270986	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttagatgccagaataaaTctcctaaaccattcctcttt	13	13	4	11	0	2	2	0	0	2	2	4	2	3	2	4	0	3	1	4	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62270986T>C	ENST00000258991.3	-	4	2193	c.2109A>G	c.(2107-2109)agA>agG	p.R703R	TEX2_ENST00000584379.1_Silent_p.R703R|TEX2_ENST00000583097.1_Silent_p.R703R			Q8IWB9	TEX2_HUMAN	testis expressed 2	703					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CCAGAATAAATCTCCTAAACC	0.453													C	62270986	T	C	62270986	2	2	364	1	0	0	0	0	0	0	0	1	15881	1432	50	3		3	TEX2	17	62270986	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	126699	62270986	18924224	12636	36138											
DDX5	1655	broad.mit.edu	37	chr17	62496859	62496859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctgaggagttagggtagtCataattgatgacaaatttca	13	13	10	5	0	3	3	2	3	1	0	3	4	3	4	0	2	0	2	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62496859C>T	ENST00000225792.5	-	12	1650	c.1249G>A	c.(1249-1251)Gac>Aac	p.D417N	DDX5_ENST00000450599.2_Missense_Mutation_p.D338N|DDX5_ENST00000578804.1_Missense_Mutation_p.D417N|DDX5_ENST00000580026.1_5'UTR	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	417	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TTAGGGTAGTCATAATTGATG	0.408			T	ETV4	prostate								T	62496859	C	T	62496859	3	4	364	1	0	0	0	0	1	0	0	0	4401	826	29	2	603	2	DDX5	17	62496859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	225873	62496859	18698351	12637	36139											
SMURF2	64750	broad.mit.edu	37	chr17	62557707	62557707	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggtctcattttcatgacCtgtcgatatgattcctgaaa	9	17	7	8	1	2	3	2	3	1	0	5	4	3	3	2	1	0	0	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:62557707C>A	ENST00000262435.9	-	12	1414	c.1227G>T	c.(1225-1227)caG>caT	p.Q409H	SMURF2_ENST00000578200.1_5'UTR	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	409					BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TTTTCATGACCTGTCGATATG	0.373													A	62557707	C	A	62557707	3	1	364	1	0	0	0	0	1	0	0	0	14914	680	24	4	1051	4	SMURF2	17	62557707	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60848	62557707	18637503	12638	36140											
AXIN2	8313	broad.mit.edu	37	chr17	63532578	63532578	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtggtgcgggggtgcccGctgttgcccccccacagatg	3	7	18	13	2	0	1	0	0	0	1	0	1	0	1	4	5	3	2	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:63532578G>A	ENST00000307078.5	-	8	2314	c.2001C>T	c.(1999-2001)agC>agT	p.S667S	AXIN2_ENST00000375702.5_Silent_p.S602S	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	667					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						GGGGGTGCCCGCTGTTGCCCC	0.667									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				A	63532578	G	A	63532578	2	1	364	1	0	0	0	0	0	0	0	1	1242	1078	38	1		1	AXIN2	17	63532578	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	974871	63532578	17662632	12639	36141											
PRKCA	5578	broad.mit.edu	37	chr17	64683231	64683231	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccttctctcttcacagtaCgagatgcaaaaaatctaatc	13	13	4	11	1	4	1	1	0	3	1	7	2	5	1	1	0	2	2	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64683231C>T	ENST00000413366.3	+	6	558	c.532C>T	c.(532-534)Cga>Tga	p.R178*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	178	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.R178*(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CTTCACAGTACGAGATGCAAA	0.388													T	64683231	C	T	64683231	4	4	364	1	0	0	0	0	0	1	0	0	12593	528	19	1	554	1	PRKCA	17	64683231	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1150653	64683231	16511979	12640	36142											
PRKCA	5578	broad.mit.edu	37	chr17	64684448	64684448	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttcagacaaagaccgaCgactgtctgtagaaatctgg	14	8	9	10	2	3	3	1	0	2	3	3	5	3	3	2	1	1	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684448C>T	ENST00000413366.3	+	7	741	c.715C>T	c.(715-717)Cga>Tga	p.R239*		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	239	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	CAAAGACCGACGACTGTCTGT	0.448													T	64684448	C	T	64684448	4	4	364	1	0	0	0	0	0	1	0	0	12593	528	19	1	741	1	PRKCA	17	64684448	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1217	64684448	16510762	12641	36143											
PRKCA	5578	broad.mit.edu	37	chr17	64684476	64684476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaaatctgggactgggAtcgaacaacaaggaatgact	15	8	12	6	1	1	2	0	1	1	1	2	6	1	5	0	3	2	1	0	3	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:64684476A>G	ENST00000413366.3	+	7	769	c.743A>G	c.(742-744)gAt>gGt	p.D248G		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	248	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	TGGGACTGGGATCGAACAACA	0.463													G	64684476	A	G	64684476	3	3	364	1	0	0	0	0	1	0	0	0	12593	333	12	3	769	3	PRKCA	17	64684476	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	28	64684476	16510734	12642	36144											
CACNG1	786	broad.mit.edu	37	chr17	65050168	65050168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgagagctcggagatcttcGaattcaccactcagaagggt	11	8	12	10	3	3	3	2	0	1	3	5	6	3	3	1	2	1	1	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65050168G>A	ENST00000226021.3	+	2	357	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	96					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GGAGATCTTCGAATTCACCAC	0.542													A	65050168	G	A	65050168	3	1	364	1	0	0	0	0	1	0	0	0	2582	1059	37	1	292	1	CACNG1	17	65050168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	365692	65050168	16145042	12643	36145											
CACNG1	786	broad.mit.edu	37	chr17	65052275	65052275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcctttgcctgcgcctGtgccgccttcatcctcctct	1	14	8	18	2	2	0	1	0	1	0	5	0	5	0	7	1	3	0	7	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65052275G>A	ENST00000226021.3	+	4	628	c.557G>A	c.(556-558)tGt>tAt	p.C186Y		NM_000727.3	NP_000718.1	Q06432	CCG1_HUMAN	calcium channel, voltage-dependent, gamma subunit 1	186					muscle contraction	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(1)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	8	all_cancers(12;1.04e-10)|Breast(2;1.45e-16)|all_epithelial(3;4.81e-12)				Amlodipine(DB00381)|Diltiazem(DB00343)|Ibutilide(DB00308)|Lercanidipine(DB00528)|Magnesium Sulfate(DB00653)|Nimodipine(DB00393)|Nitrendipine(DB01054)|Verapamil(DB00661)	GCCTGCGCCTGTGCCGCCTTC	0.602													A	65052275	G	A	65052275	3	1	364	1	0	0	0	0	1	0	0	0	2582	1377	48	2	571	2	CACNG1	17	65052275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2107	65052275	16142935	12644	36146											
HELZ	9931	broad.mit.edu	37	chr17	65082989	65082989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgctggatccattgcacGgaatgttctgataaggagta	10	12	11	8	1	1	1	0	1	1	0	3	4	3	4	2	3	2	4	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65082989G>A	ENST00000358691.5	-	32	5616	c.5450C>T	c.(5449-5451)cCg>cTg	p.P1817L	HELZ_ENST00000580168.1_Missense_Mutation_p.P1818L	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCATTGCACGGAATGTTCTG	0.473													A	65082989	G	A	65082989	3	1	364	1	0	0	0	0	1	0	0	0	7104	1116	39	1	386	1	HELZ	17	65082989	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30714	65082989	16112221	12645	36147											
HELZ	9931	broad.mit.edu	37	chr17	65103554	65103554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacgagaaaggtgagttgaAtatctggggtgggaggcgct	11	8	17	5	2	1	3	0	2	1	1	1	5	1	4	0	5	1	2	0	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65103554A>G	ENST00000358691.5	-	31	5138	c.4972T>C	c.(4972-4974)Ttc>Ctc	p.F1658L	HELZ_ENST00000580168.1_Missense_Mutation_p.F1659L	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GGTGAGTTGAATATCTGGGGT	0.478													G	65103554	A	G	65103554	3	3	364	1	0	0	0	0	1	0	0	0	7104	101	4	3	868	3	HELZ	17	65103554	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20565	65103554	16091656	12646	36148											
HELZ	9931	broad.mit.edu	37	chr17	65212053	65212053	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttgcacataatttttcTgcaaaacaaaaatacaagat	18	11	4	8	0	1	1	0	0	1	1	1	1	1	1	0	0	5	3	0	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65212053T>C	ENST00000358691.5	-	5	377		c.e5-2		HELZ_ENST00000580168.1_Splice_Site|HELZ_ENST00000580662.1_Splice_Site	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					ATAATTTTTCTGCAAAACAAA	0.279													C	65212053	T	C	65212053	5	2	364	1	0	0	0	0	0	0	1	0	7104	1594	55	3	5735	3	HELZ	17	65212053	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	108499	65212053	15983157	12647	36149											
PITPNC1	26207	broad.mit.edu	37	chr17	65628259	65628259	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgctctgctttttcagAttttcgacaatgaagccaaa	11	15	7	8	1	2	2	1	1	1	1	3	3	2	2	1	0	3	3	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65628259A>C	ENST00000580974.1	+	6	1063	c.367A>C	c.(367-369)Att>Ctt	p.I123L	PITPNC1_ENST00000335257.6_Splice_Site_p.I123L|PITPNC1_ENST00000581322.1_Splice_Site_p.I123L|PITPNC1_ENST00000299954.9_Splice_Site_p.I123L	NM_012417.3|NM_181671.2	NP_036549.2|NP_858057.1	Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	123					signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			GCTTTTTCAGATTTTCGACAA	0.443													C	65628259	A	C	65628259	5	2	364	1	0	0	0	0	0	0	1	0	12026	347	12	5	389	5	PITPNC1	17	65628259	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	416206	65628259	15566951	12648	36150											
NOL11	25926	broad.mit.edu	37	chr17	65732040	65732040	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtattatggagaacatttgTttatgctacatggaaaatct	13	15	9	4	0	1	1	0	0	1	1	1	3	1	2	0	3	3	3	0	3	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65732040T>A	ENST00000253247.4	+	9	1070	c.955T>A	c.(955-957)Ttt>Att	p.F319I	NOL11_ENST00000535137.1_Missense_Mutation_p.F137I	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	319						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGAACATTTGTTTATGCTACA	0.348													A	65732040	T	A	65732040	3	1	364	1	0	0	0	0	1	0	0	0	10597	1725	60	5	989	5	NOL11	17	65732040	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103781	65732040	15463170	12649	36151											
NOL11	25926	broad.mit.edu	37	chr17	65733763	65733763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaccatcattttatccccGgaactgtctgatgcagctta	11	12	7	11	1	2	2	1	1	1	1	3	3	3	3	3	1	4	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65733763G>A	ENST00000253247.4	+	12	1473	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	NOL11_ENST00000535137.1_Missense_Mutation_p.R271Q	NM_015462.3	NP_056277.2	Q9H8H0	NOL11_HUMAN	nucleolar protein 11	453						nucleolus				haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	11	all_cancers(12;1.54e-10)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0518)|COAD - Colon adenocarcinoma(4;0.0977)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTTATCCCCGGAACTGTCTG	0.433													A	65733763	G	A	65733763	3	1	364	1	0	0	0	0	1	0	0	0	10597	1116	39	1	1404	1	NOL11	17	65733763	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1723	65733763	15461447	12650	36152											
BPTF	2186	broad.mit.edu	37	chr17	65850685	65850685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttcagcagtataccatttgGaatgtgtgaagccacctctt	10	13	9	9	0	2	1	1	1	1	0	2	2	2	2	3	1	3	3	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65850685G>A	ENST00000321892.4	+	2	1304	c.1243G>A	c.(1243-1245)Gaa>Aaa	p.E415K	BPTF_ENST00000335221.5_Missense_Mutation_p.E415K|BPTF_ENST00000306378.6_Missense_Mutation_p.E415K|BPTF_ENST00000424123.3_Missense_Mutation_p.E276K			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	415					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			ATACCATTTGGAATGTGTGAA	0.488													A	65850685	G	A	65850685	3	1	364	1	0	0	0	0	1	0	0	0	1504	1175	41	2	1249	2	BPTF	17	65850685	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116922	65850685	15344525	12651	36153											
BPTF	2186	broad.mit.edu	37	chr17	65908009	65908009	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccgttaaagtgtgagttgGtttctggtgagtccactgga	8	13	14	6	1	1	2	0	2	1	0	2	3	2	3	2	3	1	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65908009G>T	ENST00000321892.4	+	13	4448	c.4387G>T	c.(4387-4389)Gtt>Ttt	p.V1463F	BPTF_ENST00000335221.5_Missense_Mutation_p.V1463F|BPTF_ENST00000306378.6_Missense_Mutation_p.V1337F|BPTF_ENST00000424123.3_Missense_Mutation_p.V1324F			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	1463					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			GTGTGAGTTGGTTTCTGGTGA	0.433													T	65908009	G	T	65908009	3	4	364	1	0	0	0	0	1	0	0	0	1504	1261	44	4	4437	4	BPTF	17	65908009	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57324	65908009	15287201	12652	36154											
BPTF	2186	broad.mit.edu	37	chr17	65955939	65955939	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactacctcaaaggaaactAagaaggacacaaagctttac	18	7	6	10	0	1	1	1	0	0	1	1	3	1	3	1	2	5	1	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65955939A>G	ENST00000321892.4	+	26	8648	c.8587A>G	c.(8587-8589)Aag>Gag	p.K2863E	BPTF_ENST00000335221.5_Missense_Mutation_p.K2720E|BPTF_ENST00000306378.6_Missense_Mutation_p.K2737E|BPTF_ENST00000424123.3_Missense_Mutation_p.K2581E			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2863					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AAAGGAAACTAAGAAGGACAC	0.388													G	65955939	A	G	65955939	3	3	364	1	0	0	0	0	1	0	0	0	1504	363	13	3	8689	3	BPTF	17	65955939	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47930	65955939	15239271	12653	36155											
BPTF	2186	broad.mit.edu	37	chr17	65978371	65978371	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctatattctgtaggtcTcataacaacaaactgcagtc	12	15	5	9	0	3	0	1	0	3	0	5	0	3	0	0	1	4	2	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:65978371T>A	ENST00000321892.4	+	30	9169	c.9108T>A	c.(9106-9108)tcT>tcA	p.S3036S	BPTF_ENST00000335221.5_Silent_p.S2893S|BPTF_ENST00000306378.6_Silent_p.S2910S|BPTF_ENST00000424123.3_Silent_p.S2754S			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	3036					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TCTGTAGGTCTCATAACAACA	0.368													A	65978371	T	A	65978371	2	1	364	1	0	0	0	0	0	0	0	1	1504	1538	54	5		5	BPTF	17	65978371	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22432	65978371	15216839	12654	36156											
KPNA2	3838	broad.mit.edu	37	chr17	66040087	66040087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aactaacattcagaaggaagCtacgtggacaatgtcaaaca	18	7	8	8	1	2	1	2	0	0	1	2	3	2	3	0	2	5	1	0	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66040087C>T	ENST00000537025.2	+	8	1684	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V	KPNA2_ENST00000330459.3_Missense_Mutation_p.A355V			P52292	IMA2_HUMAN	karyopherin alpha 2 (RAG cohort 1, importin alpha 1)	355	NLS binding site (minor) (By similarity).				DNA metabolic process|G2 phase of mitotic cell cycle|interspecies interaction between organisms|M phase specific microtubule process|NLS-bearing substrate import into nucleus|regulation of DNA recombination	cytoplasm|nuclear pore|nucleoplasm	histone deacetylase binding|nuclear localization sequence binding|protein transporter activity			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|kidney(2)|lung(9)|prostate(1)|urinary_tract(2)	22	all_cancers(12;1.18e-09)		BRCA - Breast invasive adenocarcinoma(8;1.03e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGAAGGAAGCTACGTGGACA	0.493													T	66040087	C	T	66040087	3	4	364	1	0	0	0	0	1	0	0	0	8488	797	28	2	1090	2	KPNA2	17	66040087	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61716	66040087	15155123	12655	36157											
AMZ2	51321	broad.mit.edu	37	chr17	66247070	66247070	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacaagatgttcctttaGagtcaatgagaacacacaca	16	10	7	8	0	1	3	1	1	0	3	2	4	2	3	1	0	2	2	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66247070G>T	ENST00000359904.3	+	3	1551	c.419G>T	c.(418-420)aGa>aTa	p.R140I	AMZ2_ENST00000577866.1_Missense_Mutation_p.R140I|AMZ2_ENST00000392720.2_Missense_Mutation_p.R140I|AMZ2_ENST00000577985.1_Missense_Mutation_p.R140I|AMZ2_ENST00000359783.4_Intron|AMZ2_ENST00000585050.1_3'UTR|AMZ2_ENST00000580753.1_Missense_Mutation_p.R140I|AMZ2_ENST00000577273.1_Missense_Mutation_p.R140I	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2	140							metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			TGTTCCTTTAGAGTCAATGAG	0.353													T	66247070	G	T	66247070	3	4	364	1	0	0	0	0	1	0	0	0	597	942	33	4	425	4	AMZ2	17	66247070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206983	66247070	14948140	12656	36158											
SLC16A6	9120	broad.mit.edu	37	chr17	66274235	66274235	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagatgtactaacctgaaAatgttaagacaaacacacag	20	7	7	7	0	0	3	0	1	0	2	0	4	0	3	1	0	3	2	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66274235A>G	ENST00000327268.4	-	3	391	c.227T>C	c.(226-228)tTt>tCt	p.F76S	SLC16A6_ENST00000580666.1_Missense_Mutation_p.F76S|ARSG_ENST00000448504.2_Intron	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	76						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	CTAACCTGAAAATGTTAAGAC	0.373													G	66274235	A	G	66274235	3	3	364	1	0	0	0	0	1	0	0	0	14506	14	1	3	1364	3	SLC16A6	17	66274235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27165	66274235	14920975	12657	36159											
ABCA8	10351	broad.mit.edu	37	chr17	66925236	66925236	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggactaagcaagcttaaaAtccactccaaggatgcagga	16	6	10	9	0	0	0	0	0	0	0	2	3	2	3	2	3	3	3	2	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66925236A>C	ENST00000269080.2	-	8	1216	c.1079T>G	c.(1078-1080)aTt>aGt	p.I360S	ABCA8_ENST00000586539.1_Missense_Mutation_p.I360S|ABCA8_ENST00000430352.2_Missense_Mutation_p.I360S	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	360						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					CAAGCTTAAAATCCACTCCAA	0.493													C	66925236	A	C	66925236	3	2	364	1	0	0	0	0	1	0	0	0	38	101	4	5	3790	5	ABCA8	17	66925236	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	651001	66925236	14269974	12658	36160											
ABCA8	10351	broad.mit.edu	37	chr17	66937019	66937019	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacccgtcccaggtccatggTaagcagtgaagaaaaatcat	14	8	9	10	1	1	2	1	1	0	1	3	2	3	2	3	2	2	2	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66937019T>C	ENST00000269080.2	-	3	318	c.181A>G	c.(181-183)Acc>Gcc	p.T61A	ABCA8_ENST00000586539.1_Missense_Mutation_p.T61A|ABCA8_ENST00000430352.2_Missense_Mutation_p.T61A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	61						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGGTCCATGGTAAGCAGTGAA	0.363													C	66937019	T	C	66937019	3	2	364	1	0	0	0	0	1	0	0	0	38	1638	57	3	4708	3	ABCA8	17	66937019	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	11783	66937019	14258191	12659	36161											
ABCA9	10350	broad.mit.edu	37	chr17	66979978	66979978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttcaggtgttggatGgaaccaatacatctgaaggt	10	14	11	6	0	2	1	1	1	1	0	2	3	2	3	1	4	3	2	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66979978G>A	ENST00000340001.4	-	36	4723	c.4512C>T	c.(4510-4512)tcC>tcT	p.S1504S	ABCA9_ENST00000370732.2_3'UTR|ABCA9_ENST00000453985.2_Silent_p.S1466S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1504	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					GGTGTTGGATGGAACCAATAC	0.468													A	66979978	G	A	66979978	2	1	364	1	0	0	0	0	0	0	0	1	39	1335	47	2		2	ABCA9	17	66979978	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42959	66979978	14215232	12660	36162											
ABCA9	10350	broad.mit.edu	37	chr17	66982385	66982385	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtgctgcctcactgtcagGttgggccacagcgcattctc	6	10	12	13	1	3	0	2	0	1	0	4	0	3	0	2	3	3	3	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:66982385G>A	ENST00000340001.4	-	32	4339	c.4128C>T	c.(4126-4128)aaC>aaT	p.N1376N	ABCA9_ENST00000370732.2_Silent_p.N1376N|ABCA9_ENST00000453985.2_Silent_p.N1338N	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1376	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TCACTGTCAGGTTGGGCCACA	0.577													A	66982385	G	A	66982385	2	1	364	1	0	0	0	0	0	0	0	1	39	1252	44	2		2	ABCA9	17	66982385	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2407	66982385	14212825	12661	36163											
ABCA9	10350	broad.mit.edu	37	chr17	67004269	67004269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatataatccattatttgCattagcaggaggatcaaaaa	19	11	6	5	0	1	0	1	0	0	0	2	2	2	2	1	2	2	2	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67004269C>T	ENST00000340001.4	-	24	3466	c.3255G>A	c.(3253-3255)atG>atA	p.M1085I	ABCA9_ENST00000370732.2_Missense_Mutation_p.M1085I|ABCA9_ENST00000453985.2_Missense_Mutation_p.M1085I|ABCA9-AS1_ENST00000458677.1_RNA	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1085					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCATTATTTGCATTAGCAGGA	0.383													T	67004269	C	T	67004269	3	4	364	1	0	0	0	0	1	0	0	0	39	710	25	2	1683	2	ABCA9	17	67004269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21884	67004269	14190941	12662	36164											
ABCA9	10350	broad.mit.edu	37	chr17	67039765	67039765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatgaaaaaatcagttGcaactcctccttgggcaaca	17	8	7	9	0	1	2	1	1	0	1	3	2	3	2	2	1	3	3	2	1	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67039765G>A	ENST00000340001.4	-	6	876	c.665C>T	c.(664-666)gCa>gTa	p.A222V	ABCA9_ENST00000370732.2_Missense_Mutation_p.A222V|ABCA9_ENST00000453985.2_Missense_Mutation_p.A222V|ABCA9_ENST00000495634.1_Missense_Mutation_p.A222V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	222					transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AAAATCAGTTGCAACTCCTCC	0.328													A	67039765	G	A	67039765	3	1	364	1	0	0	0	0	1	0	0	0	39	1319	46	2	4345	2	ABCA9	17	67039765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35496	67039765	14155445	12663	36165											
ABCA6	23460	broad.mit.edu	37	chr17	67079048	67079048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctgtgggaaaagcttcaGaatctcagtgtggaccaaag	13	8	12	8	0	2	1	2	0	1	1	3	3	2	3	2	2	2	1	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67079048G>A	ENST00000284425.2	-	36	4756	c.4582C>T	c.(4582-4584)Ctg>Ttg	p.L1528L	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1528					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AAAAGCTTCAGAATCTCAGTG	0.448													A	67079048	G	A	67079048	2	1	364	1	0	0	0	0	0	0	0	1	36	933	33	2		2	ABCA6	17	67079048	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39283	67079048	14116162	12664	36166											
ABCA6	23460	broad.mit.edu	37	chr17	67081189	67081189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcgatggcgagcctcgcGtccgctttcctgagcccctt	3	11	11	16	5	0	1	0	1	0	0	3	3	2	1	5	1	3	1	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67081189G>A	ENST00000284425.2	-	32	4338	c.4164C>T	c.(4162-4164)gaC>gaT	p.D1388D	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1388	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGAGCCTCGCGTCCGCTTTCC	0.552													A	67081189	G	A	67081189	2	1	364	1	0	0	0	0	0	0	0	1	36	1136	40	1		1	ABCA6	17	67081189	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2141	67081189	14114021	12665	36167											
ABCA6	23460	broad.mit.edu	37	chr17	67099080	67099080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatattttgatgcttcaGtgattttataaaatcttcaa	14	18	5	4	0	3	2	2	2	1	0	3	2	3	2	0	0	1	2	0	0	7	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67099080G>T	ENST00000284425.2	-	21	2944	c.2770C>A	c.(2770-2772)Ctg>Atg	p.L924M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	924					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TGATGCTTCAGTGATTTTATA	0.284													T	67099080	G	T	67099080	3	4	364	1	0	0	0	0	1	0	0	0	36	1020	36	4	2159	4	ABCA6	17	67099080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17891	67099080	14096130	12666	36168											
ABCA6	23460	broad.mit.edu	37	chr17	67107013	67107013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttctgtttttaatttaGcatcggggatgtgatgagta	8	19	11	3	1	1	2	0	2	1	0	2	3	1	3	0	2	1	4	0	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67107013G>A	ENST00000284425.2	-	17	2375	c.2201C>T	c.(2200-2202)gCt>gTt	p.A734V		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	734					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TTTTAATTTAGCATCGGGGAT	0.303													A	67107013	G	A	67107013	3	1	364	1	0	0	0	0	1	0	0	0	36	971	34	2	2744	2	ABCA6	17	67107013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7933	67107013	14088197	12667	36169											
ABCA6	23460	broad.mit.edu	37	chr17	67124790	67124790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagtagtaaaggcaaaaggGctacaaatattcaaaatcca	19	7	7	8	0	1	0	1	0	0	0	2	0	2	0	2	2	1	4	2	2	10	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67124790G>A	ENST00000284425.2	-	8	1263	c.1089C>T	c.(1087-1089)agC>agT	p.S363S		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	363					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					AGGCAAAAGGGCTACAAATAT	0.373													A	67124790	G	A	67124790	2	1	364	1	0	0	0	0	0	0	0	1	36	1194	42	2		2	ABCA6	17	67124790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17777	67124790	14070420	12668	36170											
ABCA6	23460	broad.mit.edu	37	chr17	67130869	67130869	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaaactcaccatatcCatcccagcaatgagctgtaa	16	8	5	12	0	1	2	1	2	0	0	3	2	3	2	3	0	3	3	3	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67130869C>A	ENST00000284425.2	-	5	649	c.475G>T	c.(475-477)Gga>Tga	p.G159*		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	159					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TCACCATATCCATCCCAGCAA	0.378													A	67130869	C	A	67130869	4	1	364	1	0	0	0	0	0	1	0	0	36	603	21	4	4518	4	ABCA6	17	67130869	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6079	67130869	14064341	12669	36171											
ABCA10	10349	broad.mit.edu	37	chr17	67189381	67189381	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcagttggttcatctagCagcaaaacctacagaggagg	13	7	11	10	0	2	1	1	0	1	1	2	2	2	2	2	3	5	5	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67189381C>T	ENST00000269081.4	-	16	2559	c.1650G>A	c.(1648-1650)ctG>ctA	p.L550L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	550	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					GTTCATCTAGCAGCAAAACCT	0.448													T	67189381	C	T	67189381	2	4	364	1	0	0	0	0	0	0	0	1	29	697	25	2		2	ABCA10	17	67189381	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58512	67189381	14005829	12670	36172											
ABCA10	10349	broad.mit.edu	37	chr17	67197727	67197727	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttatttcattctcaaaGatttcatgatgagtattttg	11	19	7	4	0	3	3	3	2	1	1	4	4	3	4	0	1	0	1	0	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67197727G>T	ENST00000269081.4	-	11	1998	c.1089C>A	c.(1087-1089)atC>atA	p.I363I	ABCA10_ENST00000416101.2_Silent_p.I363I|ABCA10_ENST00000432313.2_Silent_p.I363I	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	363					transport	integral to membrane	ATP binding|ATPase activity	p.I363I(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CATTCTCAAAGATTTCATGAT	0.338													T	67197727	G	T	67197727	2	4	364	1	0	0	0	0	0	0	0	1	29	932	33	4		4	ABCA10	17	67197727	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8346	67197727	13997483	12671	36173											
ABCA5	23461	broad.mit.edu	37	chr17	67246065	67246065	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttcttccagcttaaaaaaAgattgtgaaagggactgaac	15	10	8	8	0	1	3	0	2	1	1	2	4	2	4	2	1	2	1	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67246065A>T	ENST00000392676.3	-	37	4810	c.4746T>A	c.(4744-4746)tcT>tcA	p.S1582S	ABCA5_ENST00000392677.2_Silent_p.S1583S|ABCA5_ENST00000588877.1_Silent_p.S1582S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1582					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					GCTTAAAAAAAGATTGTGAAA	0.284													T	67246065	A	T	67246065	2	4	364	1	0	0	0	0	0	0	0	1	35	59	3	5		5	ABCA5	17	67246065	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48338	67246065	13949145	12672	36174											
ABCA5	23461	broad.mit.edu	37	chr17	67273863	67273863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctgttgtttccaaaggCtcatggtgctcactagagca	10	12	9	10	0	3	1	2	0	1	1	4	1	4	1	1	2	2	5	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67273863C>T	ENST00000392676.3	-	19	2577	c.2513G>A	c.(2512-2514)aGc>aAc	p.S838N	ABCA5_ENST00000392677.2_Missense_Mutation_p.S838N|ABCA5_ENST00000588877.1_Missense_Mutation_p.S838N			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	838					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TTTCCAAAGGCTCATGGTGCT	0.373													T	67273863	C	T	67273863	3	4	364	1	0	0	0	0	1	0	0	0	35	797	28	2	2499	2	ABCA5	17	67273863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27798	67273863	13921347	12673	36175											
ABCA5	23461	broad.mit.edu	37	chr17	67286071	67286071	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataaattttcttctactgTcaaaacatcaaagtgtatat	15	16	4	6	0	4	1	2	1	2	0	4	1	4	1	0	0	2	1	0	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67286071T>G	ENST00000392676.3	-	13	1778	c.1714A>C	c.(1714-1716)Aca>Cca	p.T572P	ABCA5_ENST00000392677.2_Missense_Mutation_p.T572P|ABCA5_ENST00000588877.1_Missense_Mutation_p.T572P			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	572	ABC transporter 1.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCTACTGTCAAAACATCA	0.299													G	67286071	T	G	67286071	3	3	364	1	0	0	0	0	1	0	0	0	35	1667	58	5	3322	5	ABCA5	17	67286071	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12208	67286071	13909139	12674	36176											
MAP2K6	5608	broad.mit.edu	37	chr17	67537834	67537834	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcaacatccatttttcacCctacatgaatccaaaggaac	15	9	4	13	0	1	1	1	1	0	0	3	2	3	2	3	1	4	1	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:67537834C>A	ENST00000590474.1	+	12	1232	c.945C>A	c.(943-945)acC>acA	p.T315T	MAP2K6_ENST00000589647.1_Silent_p.T259T	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	315					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					CATTTTTCACCCTACATGAAT	0.358													A	67537834	C	A	67537834	2	1	364	1	0	0	0	0	0	0	0	1	9316	610	22	4		4	MAP2K6	17	67537834	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	251763	67537834	13657376	12675	36177											
KCNJ16	3773	broad.mit.edu	37	chr17	68129385	68129385	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcagctgtgaaaaccCtgaggagaccaccacttccg	11	7	10	13	1	1	3	1	2	0	1	2	4	2	3	4	1	3	2	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129385C>A	ENST00000585558.1	+	4	1650	c.1262C>A	c.(1261-1263)cCt>cAt	p.P421H	KCNJ16_ENST00000589377.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P386H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P425H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	386					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					TGTGAAAACCCTGAGGAGACC	0.468													A	68129385	C	A	68129385	3	1	364	1	0	0	0	0	1	0	0	0	8108	681	24	4	1159	4	KCNJ16	17	68129385	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	591551	68129385	13065825	12676	36178											
KCNJ16	3773	broad.mit.edu	37	chr17	68129430	68129430	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaatatagggaaacacCttatcagaaagctctcctga	16	9	7	9	0	2	3	1	2	1	1	3	4	2	4	2	1	2	1	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68129430C>A	ENST00000585558.1	+	4	1695	c.1307C>A	c.(1306-1308)cCt>cAt	p.P436H	KCNJ16_ENST00000589377.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000392670.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000392671.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000283936.1_Missense_Mutation_p.P401H|KCNJ16_ENST00000586462.1_Missense_Mutation_p.P440H			Q9NPI9	IRK16_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 16	401					synaptic transmission	voltage-gated potassium channel complex	inward rectifier potassium channel activity			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	32	Breast(10;2.96e-09)					AGGGAAACACCTTATCAGAAA	0.428													A	68129430	C	A	68129430	3	1	364	1	0	0	0	0	1	0	0	0	8108	681	24	4	1204	4	KCNJ16	17	68129430	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45	68129430	13065780	12677	36179											
KCNJ2	3759	broad.mit.edu	37	chr17	68171380	68171380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtgagaaggggcaacGgtacctcgcagacatcttca	10	8	14	9	2	2	2	1	1	1	2	3	3	2	2	1	4	2	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68171380G>A	ENST00000243457.3	+	2	583	c.200G>A	c.(199-201)cGg>cAg	p.R67Q	KCNJ2_ENST00000535240.1_Missense_Mutation_p.R67Q	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	67			R -> W (in LQT7).		synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					AAGGGGCAACGGTACCTCGCA	0.517													A	68171380	G	A	68171380	3	1	364	1	0	0	0	0	1	0	0	0	8109	1116	39	1	202	1	KCNJ2	17	68171380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41950	68171380	13023830	12678	36180											
KCNJ2	3759	broad.mit.edu	37	chr17	68172103	68172103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaagccactgccatgaCgacacagtgccgtagctctt	9	8	12	12	2	1	1	0	1	1	0	1	3	1	2	3	2	4	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:68172103C>T	ENST00000243457.3	+	2	1306	c.923C>T	c.(922-924)aCg>aTg	p.T308M	KCNJ2_ENST00000535240.1_Missense_Mutation_p.T308M	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	308					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding	p.T308M(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					ACTGCCATGACGACACAGTGC	0.463													T	68172103	C	T	68172103	3	4	364	1	0	0	0	0	1	0	0	0	8109	536	19	1	925	1	KCNJ2	17	68172103	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	723	68172103	13023107	12679	36181											
SSTR2	6752	broad.mit.edu	37	chr17	71165681	71165681	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccgctatgccaagatgAagaccatcaccaacatttac	13	9	5	14	1	1	3	1	1	0	2	3	3	3	3	5	0	3	1	5	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71165681A>C	ENST00000357585.2	+	2	592	c.223A>C	c.(223-225)Aag>Cag	p.K75Q	SSTR2_ENST00000315332.2_Missense_Mutation_p.K75Q|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	75					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			TGCCAAGATGAAGACCATCAC	0.483													C	71165681	A	C	71165681	3	2	364	1	0	0	0	0	1	0	0	0	15294	247	9	5	225	5	SSTR2	17	71165681	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2993578	71165681	10029529	12680	36182											
COG1	9382	broad.mit.edu	37	chr17	71197678	71197678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtgcaggagatgctgcGgactcagtccgtggcatgca	8	7	15	11	3	1	1	1	0	0	1	2	4	2	2	2	3	4	4	2	3	0	0	rs141750466	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71197678G>A	ENST00000299886.4	+	7	1792	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q		NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	571					Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			GAGATGCTGCGGACTCAGTCC	0.567													A	71197678	G	A	71197678	3	1	364	1	0	0	0	0	1	0	0	0	3688	1116	39	1	1738	1	COG1	17	71197678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31997	71197678	9997532	12681	36183											
CDC42EP4	23580	broad.mit.edu	37	chr17	71282025	71282025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatgtggaaggacatgatGgactccgcatgcttcagccc	9	9	12	11	2	1	1	1	1	0	0	3	5	2	4	2	3	2	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71282025G>A	ENST00000335793.3	-	2	1009	c.615C>T	c.(613-615)tcC>tcT	p.S205S	CDC42EP4_ENST00000439510.2_Silent_p.S135S|CDC42EP4_ENST00000581014.1_Intron			Q9H3Q1	BORG4_HUMAN	CDC42 effector protein (Rho GTPase binding) 4	205					positive regulation of pseudopodium assembly|regulation of cell shape	actin cytoskeleton|cytoplasm|endomembrane system|membrane|microtubule cytoskeleton	GTP-Rho binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(7)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(166;0.0352)|Lung(188;0.0711)			AGGACATGATGGACTCCGCAT	0.622													A	71282025	G	A	71282025	2	1	364	1	0	0	0	0	0	0	0	1	3108	1335	47	2		2	CDC42EP4	17	71282025	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84347	71282025	9913185	12682	36184											
SDK2	54549	broad.mit.edu	37	chr17	71381994	71381994	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggccatacctgccatcGgattagcacggaggtggtgg	7	8	16	10	2	0	0	0	0	0	0	1	2	0	2	3	6	3	2	3	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71381994G>A	ENST00000392650.3	-	32	4561	c.4561C>T	c.(4561-4563)Cga>Tga	p.R1521*	SDK2_ENST00000388726.3_Nonsense_Mutation_p.R1521*	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1521	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						ACCTGCCATCGGATTAGCACG	0.652													A	71381994	G	A	71381994	4	1	364	1	0	0	0	0	0	1	0	0	14062	1124	39	1	2013	1	SDK2	17	71381994	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99969	71381994	9813216	12683	36185											
SDK2	54549	broad.mit.edu	37	chr17	71384091	71384091	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcacaggggagagcccgtcGctccctggctcccaggacag	7	4	14	16	3	0	1	0	0	0	1	3	3	2	2	3	4	1	3	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71384091G>A	ENST00000392650.3	-	30	4278	c.4278C>T	c.(4276-4278)agC>agT	p.S1426S	SDK2_ENST00000388726.3_Silent_p.S1426S	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1426	Fibronectin type-III 9.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						AGAGCCCGTCGCTCCCTGGCT	0.687													A	71384091	G	A	71384091	2	1	364	1	0	0	0	0	0	0	0	1	14062	1078	38	1		1	SDK2	17	71384091	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2097	71384091	9811119	12684	36186											
SDK2	54549	broad.mit.edu	37	chr17	71415339	71415339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgagaattccattctggtGgctctcaggaggcggctgcc	6	11	13	11	1	2	1	1	1	2	1	4	3	3	2	2	5	1	2	2	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:71415339G>A	ENST00000392650.3	-	16	2152	c.2152C>T	c.(2152-2154)Cac>Tac	p.H718Y	SDK2_ENST00000388726.3_Missense_Mutation_p.H718Y	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	718	Fibronectin type-III 2.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CCATTCTGGTGGCTCTCAGGA	0.622													A	71415339	G	A	71415339	3	1	364	1	0	0	0	0	1	0	0	0	14062	1348	47	2	4486	2	SDK2	17	71415339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31248	71415339	9779871	12685	36187											
TTYH2	94015	broad.mit.edu	37	chr17	72249233	72249233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctagaaacagagactacGatgacattgatgatgatgac	15	10	10	6	1	1	7	0	5	1	2	1	9	1	7	0	0	2	1	0	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249233G>A	ENST00000441391.2	+	6	1522	c.310G>A	c.(310-312)Gat>Aat	p.D104N	TTYH2_ENST00000269346.4_Missense_Mutation_p.D425N|TTYH2_ENST00000529107.1_Missense_Mutation_p.D404N	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	425						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CAGAGACTACGATGACATTGA	0.572													A	72249233	G	A	72249233	3	1	364	1	0	0	0	0	1	0	0	0	16842	1058	37	1	1319	1	TTYH2	17	72249233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	833894	72249233	8945977	12686	36188											
TTYH2	94015	broad.mit.edu	37	chr17	72249269	72249269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacccctttaacccccaaGcctggcgcatggcggctcac	8	7	9	17	2	1	1	1	1	0	0	1	1	1	1	5	3	2	2	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72249269G>A	ENST00000441391.2	+	6	1558	c.346G>A	c.(346-348)Gcc>Acc	p.A116T	TTYH2_ENST00000269346.4_Missense_Mutation_p.A437T|TTYH2_ENST00000529107.1_Missense_Mutation_p.A416T	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	437						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TAACCCCCAAGCCTGGCGCAT	0.592													A	72249269	G	A	72249269	3	1	364	1	0	0	0	0	1	0	0	0	16842	971	34	2	1355	2	TTYH2	17	72249269	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36	72249269	8945941	12687	36189											
DNAI2	64446	broad.mit.edu	37	chr17	72278016	72278016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgggaagcagtgcaatttCtcggaccgccaggccgagct	8	8	13	12	4	1	0	0	0	1	0	3	3	1	2	3	3	3	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72278016C>A	ENST00000579490.1	+	1	366	c.231C>A	c.(229-231)ttC>ttA	p.F77L	DNAI2_ENST00000307504.5_5'UTR|DNAI2_ENST00000446837.2_Missense_Mutation_p.F20L|DNAI2_ENST00000582036.1_Missense_Mutation_p.F20L|DNAI2_ENST00000311014.6_Missense_Mutation_p.F20L			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	20					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGTGCAATTTCTCGGACCGCC	0.622									Kartagener syndrome				A	72278016	C	A	72278016	3	1	364	1	0	0	0	0	1	0	0	0	4649	912	32	4	62	4	DNAI2	17	72278016	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28747	72278016	8917194	12688	36190											
DNAI2	64446	broad.mit.edu	37	chr17	72297261	72297261	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaccaagaaggaacagtTggaaaatgccttgggggcca	14	6	12	9	0	1	1	1	0	0	1	1	3	1	3	3	4	2	1	3	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72297261T>G	ENST00000579490.1	+	7	1247	c.1112T>G	c.(1111-1113)tTg>tGg	p.L371W	DNAI2_ENST00000307504.5_Missense_Mutation_p.L171W|DNAI2_ENST00000446837.2_Missense_Mutation_p.L314W|DNAI2_ENST00000582036.1_Missense_Mutation_p.L314W|DNAI2_ENST00000311014.6_Missense_Mutation_p.L314W			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	314					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AAGGAACAGTTGGAAAATGCC	0.562									Kartagener syndrome				G	72297261	T	G	72297261	3	3	364	1	0	0	0	0	1	0	0	0	4649	1821	63	5	967	5	DNAI2	17	72297261	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19245	72297261	8897949	12689	36191											
KIF19	124602	broad.mit.edu	37	chr17	72339248	72339248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgacctcttccgtgccatCgaggagaccagcaatgacat	12	7	9	13	3	1	2	0	1	1	1	3	5	2	2	4	1	3	1	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72339248C>T	ENST00000389916.4	+	5	543	c.405C>T	c.(403-405)atC>atT	p.I135I		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	135	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						TCCGTGCCATCGAGGAGACCA	0.597													T	72339248	C	T	72339248	2	4	364	1	0	0	0	0	0	0	0	1	8340	874	31	1		1	KIF19	17	72339248	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41987	72339248	8855962	12690	36192											
KIF19	124602	broad.mit.edu	37	chr17	72345413	72345413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagatccagcgactcaagCgcaagattgatgagcagact	13	6	12	10	3	1	5	1	2	0	3	2	7	2	5	1	0	3	2	1	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72345413C>T	ENST00000389916.4	+	10	1276	c.1138C>T	c.(1138-1140)Cgc>Tgc	p.R380C		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	380					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						GCGACTCAAGCGCAAGATTGA	0.632													T	72345413	C	T	72345413	3	4	364	1	0	0	0	0	1	0	0	0	8340	768	27	1	1176	1	KIF19	17	72345413	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6165	72345413	8849797	12691	36193											
KIF19	124602	broad.mit.edu	37	chr17	72349048	72349048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagacattgagctctgatgCccagcacctgcagaacagcg	12	6	11	12	1	1	4	0	2	1	2	1	5	1	4	2	0	6	3	2	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72349048C>T	ENST00000389916.4	+	15	2207	c.2069C>T	c.(2068-2070)gCc>gTc	p.A690V		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	690					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGCTCTGATGCCCAGCACCTG	0.627													T	72349048	C	T	72349048	3	4	364	1	0	0	0	0	1	0	0	0	8340	739	26	2	2127	2	KIF19	17	72349048	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3635	72349048	8846162	12692	36194											
BTBD17	388419	broad.mit.edu	37	chr17	72356130	72356130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgaacttgtcgaagacagCggcgcagtcctgtggctcct	8	9	13	11	3	0	2	0	1	0	1	3	4	2	2	2	2	2	2	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72356130C>T	ENST00000375366.3	-	2	466	c.340G>A	c.(340-342)Gct>Act	p.A114T		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	114	BTB.					extracellular region				endometrium(1)|kidney(1)|lung(4)	6						TCGAAGACAGCGGCGCAGTCC	0.637													T	72356130	C	T	72356130	3	4	364	1	0	0	0	0	1	0	0	0	1551	768	27	1	1104	1	BTBD17	17	72356130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7082	72356130	8839080	12693	36195											
CD300A	11314	broad.mit.edu	37	chr17	72470740	72470740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcacaactgcatttccacCtgtatcatccactaccctgt	11	12	3	15	0	2	0	2	0	0	0	4	0	4	0	4	0	3	2	4	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72470740C>A	ENST00000360141.3	+	3	737	c.449C>A	c.(448-450)cCt>cAt	p.P150H	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Missense_Mutation_p.P37H|CD300A_ENST00000577511.1_Missense_Mutation_p.P20H|CD300A_ENST00000392625.3_Missense_Mutation_p.P37H	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	150					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCATTTCCACCTGTATCATCC	0.537													A	72470740	C	A	72470740	3	1	364	1	0	0	0	0	1	0	0	0	3026	681	24	4	459	4	CD300A	17	72470740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114610	72470740	8724470	12694	36196											
CD300C	10871	broad.mit.edu	37	chr17	72540830	72540830	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccccacaccagtaggtGcctgcgtcctcctctgtgag	6	9	9	17	1	1	1	0	1	1	0	4	1	4	1	7	1	2	1	7	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72540830G>A	ENST00000330793.1	-	2	678	c.318C>T	c.(316-318)ggC>ggT	p.G106G		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	106	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						ACCAGTAGGTGCCTGCGTCCT	0.572													A	72540830	G	A	72540830	2	1	364	1	0	0	0	0	0	0	0	1	3027	1306	46	2		2	CD300C	17	72540830	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70090	72540830	8654380	12695	36197											
CD300E	342510	broad.mit.edu	37	chr17	72613389	72613389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcatggtcacagtgaaggCgagagcctccgggtggtctc	7	8	15	11	2	2	2	1	1	1	1	4	3	3	2	2	4	2	1	2	4	1	0	rs144682080	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72613389C>T	ENST00000392619.1	-	2	372	c.337G>A	c.(337-339)Gcc>Acc	p.A113T	CD300E_ENST00000426295.2_Missense_Mutation_p.A127T|CD300E_ENST00000328630.3_Missense_Mutation_p.A86T	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	86	Ig-like V-type.					integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						ACAGTGAAGGCGAGAGCCTCC	0.532													T	72613389	C	T	72613389	3	4	364	1	0	0	0	0	1	0	0	0	3028	768	27	1	373	1	CD300E	17	72613389	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72559	72613389	8581821	12696	36198											
RAB37	326624	broad.mit.edu	37	chr17	72725432	72725432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgtgggaaagacgtCtctgctggttcagttcgatc	7	12	14	8	2	2	1	1	0	1	1	5	3	2	2	0	3	1	3	0	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72725432C>A	ENST00000340415.3	+	2	1119	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	RAB37_ENST00000402449.4_Missense_Mutation_p.S37Y	NM_175738.4	NP_783865.1	Q96AX2	RAB37_HUMAN	RAB37, member RAS oncogene family	44					protein transport|small GTPase mediated signal transduction	ER-Golgi intermediate compartment	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	12						GGAAAGACGTCTCTGCTGGTT	0.587													A	72725432	C	A	72725432	3	1	364	1	0	0	0	0	1	0	0	0	13015	913	32	4	116	4	RAB37	17	72725432	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112043	72725432	8469778	12697	36199											
SLC9A3R1	9368	broad.mit.edu	37	chr17	72758167	72758167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcgagcttcggcctcGgctctgtaccatgaagaagg	8	7	14	12	4	1	2	0	1	1	1	3	3	1	2	2	3	3	4	2	3	3	2	rs41282065	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72758167G>A	ENST00000262613.5	+	2	653	c.458G>A	c.(457-459)cGg>cAg	p.R153Q	SLC9A3R1_ENST00000413388.2_5'UTR	NM_004252.4	NP_004243.1	O14745	NHRF1_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1	153			R -> Q (in NPHLOP2; the mutant expressed in cultured renal cells increases the generation of cAMP by PTH and inhibits phosphate transport; dbSNP:rs41282065).		apoptosis|bile acid secretion|glutathione transport|microvillus assembly|negative regulation of cell proliferation|negative regulation of ERK1 and ERK2 cascade|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|protein complex assembly|regulation of protein kinase activity|regulation of sodium:hydrogen antiporter activity|renal absorption|Wnt receptor signaling pathway	actin cytoskeleton|apical plasma membrane|centrosome|endomembrane system|filopodium|intracellular membrane-bounded organelle|microvillus membrane|ruffle	beta-2 adrenergic receptor binding|beta-catenin binding|chloride channel regulator activity|growth factor receptor binding|PDZ domain binding|phosphatase binding|protein self-association			large_intestine(4)	4						CTTCGGCCTCGGCTCTGTACC	0.627													A	72758167	G	A	72758167	3	1	364	1	0	0	0	0	1	0	0	0	14808	1116	39	1	464	1	SLC9A3R1	17	72758167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32735	72758167	8437043	12698	36200											
NAT9	26151	broad.mit.edu	37	chr17	72769101	72769101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaggaagaggttcacatCtcccaccatgcagctctctt	9	11	9	12	0	3	2	1	1	2	1	5	3	3	3	2	2	2	3	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72769101C>A	ENST00000357814.3	-	4	341	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NAT9_ENST00000583476.1_Missense_Mutation_p.D90Y|NAT9_ENST00000578822.1_Missense_Mutation_p.D95Y|NAT9_ENST00000582524.1_Missense_Mutation_p.D90Y|NAT9_ENST00000580216.1_5'UTR|NAT9_ENST00000582870.1_Missense_Mutation_p.D94Y|NAT9_ENST00000580301.1_Missense_Mutation_p.D89Y|NAT9_ENST00000580632.1_Missense_Mutation_p.D89Y|NAT9_ENST00000581136.1_Missense_Mutation_p.D90Y|NAT9_ENST00000583757.1_Missense_Mutation_p.D89Y	NM_015654.3	NP_056469.2	Q9BTE0	NAT9_HUMAN	N-acetyltransferase 9 (GCN5-related, putative)	90	N-acetyltransferase.					protein complex	N-acetyltransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)	8						AGGTTCACATCTCCCACCATG	0.567													A	72769101	C	A	72769101	3	1	364	1	0	0	0	0	1	0	0	0	10258	913	32	4	371	4	NAT9	17	72769101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10934	72769101	8426109	12699	36201											
GRIN2C	2905	broad.mit.edu	37	chr17	72846006	72846006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagggtacagagaagtctaCgatctcggagcgttcctcat	12	9	11	9	3	3	1	1	0	2	1	5	4	4	2	1	2	3	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72846006C>T	ENST00000293190.5	-	7	1704	c.1558G>A	c.(1558-1560)Gta>Ata	p.V520I	GRIN2C_ENST00000347612.4_Missense_Mutation_p.V520I	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	520					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGAAGTCTACGATCTCGGAG	0.607													T	72846006	C	T	72846006	3	4	364	1	0	0	0	0	1	0	0	0	6836	536	19	1	2171	1	GRIN2C	17	72846006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76905	72846006	8349204	12700	36202											
FDXR	2232	broad.mit.edu	37	chr17	72861912	72861912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccctgccccagaatcaCggctgtgtcacagctcaggt	7	9	10	15	1	3	1	3	0	0	1	4	1	4	1	4	2	2	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72861912C>T	ENST00000455107.2	-	7	822	c.406G>A	c.(406-408)Gtg>Atg	p.V136M	FDXR_ENST00000413947.2_Missense_Mutation_p.V211M|FDXR_ENST00000583917.1_Missense_Mutation_p.V181M|FDXR_ENST00000582944.1_Missense_Mutation_p.V172M|FDXR_ENST00000442102.2_Missense_Mutation_p.V223M|FDXR_ENST00000420580.2_Missense_Mutation_p.V140M|FDXR_ENST00000544854.1_Missense_Mutation_p.V128M|FDXR_ENST00000581530.1_Missense_Mutation_p.V180M|FDXR_ENST00000293195.5_Missense_Mutation_p.V180M			P22570	ADRO_HUMAN	ferredoxin reductase	180					cholesterol metabolic process|electron transport chain|steroid biosynthetic process|transport	mitochondrial matrix	ferredoxin-NADP+ reductase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	16	all_lung(278;0.172)|Lung NSC(278;0.207)					CCCAGAATCACGGCTGTGTCA	0.642													T	72861912	C	T	72861912	3	4	364	1	0	0	0	0	1	0	0	0	5856	536	19	1	983	1	FDXR	17	72861912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15906	72861912	8333298	12701	36203											
FADS6	283985	broad.mit.edu	37	chr17	72877209	72877209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcacctggaagatgtTgacgtggaggtaggggtggg	7	9	19	6	1	1	2	1	1	0	1	1	4	1	4	2	7	0	2	2	7	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72877209T>C	ENST00000310226.6	-	4	729	c.715A>G	c.(715-717)Aac>Gac	p.N239D		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	245					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGGAAGATGTTGACGTGGAGG	0.617													C	72877209	T	C	72877209	3	2	364	1	0	0	0	0	1	0	0	0	5413	1812	63	3	349	3	FADS6	17	72877209	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15297	72877209	8318001	12702	36204											
USH1G	124590	broad.mit.edu	37	chr17	72915984	72915984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtaatttctgcggaacAccatggtgcccaggccgggg	9	8	13	11	2	2	0	1	0	1	0	2	1	2	1	3	5	3	1	3	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72915984A>G	ENST00000319642.1	-	2	1129	c.947T>C	c.(946-948)gTg>gCg	p.V316A		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	316					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					TCTGCGGAACACCATGGTGCC	0.697													G	72915984	A	G	72915984	3	3	364	1	0	0	0	0	1	0	0	0	17137	159	6	3	446	3	USH1G	17	72915984	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38775	72915984	8279226	12703	36205											
USH1G	124590	broad.mit.edu	37	chr17	72916250	72916250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccttgaaggtgccttcGccgccctgcttgcgccgctc	4	9	12	16	4	0	2	0	1	0	1	2	3	0	2	5	1	3	2	5	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:72916250G>A	ENST00000319642.1	-	2	863	c.681C>T	c.(679-681)ggC>ggT	p.G227G		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	227					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					AGGTGCCTTCGCCGCCCTGCT	0.687													A	72916250	G	A	72916250	2	1	364	1	0	0	0	0	0	0	0	1	17137	1074	38	1		1	USH1G	17	72916250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	266	72916250	8278960	12704	36206											
SLC16A5	9121	broad.mit.edu	37	chr17	73089826	73089826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccctgggcttccccaCgtgtatcggcatcttcttca	5	12	7	17	2	4	0	2	0	2	0	6	0	5	0	4	2	0	3	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089826C>T	ENST00000450736.2	+	2	510	c.95C>T	c.(94-96)aCg>aTg	p.T32M	SLC16A5_ENST00000580123.1_Missense_Mutation_p.T32M|SLC16A5_ENST00000538213.2_Missense_Mutation_p.T72M|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.T32M			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	32					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GGCTTCCCCACGTGTATCGGC	0.627													T	73089826	C	T	73089826	3	4	364	1	0	0	0	0	1	0	0	0	14505	536	19	1	97	1	SLC16A5	17	73089826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	173576	73089826	8105384	12705	36207											
SLC16A5	9121	broad.mit.edu	37	chr17	73089920	73089920	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatcctcacggctgtgctCcacatggcaggtgagcggcc	6	8	12	15	2	1	1	1	1	0	0	4	1	4	1	4	4	2	3	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73089920C>A	ENST00000450736.2	+	2	604	c.189C>A	c.(187-189)ctC>ctA	p.L63L	SLC16A5_ENST00000580123.1_Silent_p.L63L|SLC16A5_ENST00000538213.2_Silent_p.L103L|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Silent_p.L63L			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	63					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CGGCTGTGCTCCACATGGCAG	0.592													A	73089920	C	A	73089920	2	1	364	1	0	0	0	0	0	0	0	1	14505	842	30	4		4	SLC16A5	17	73089920	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94	73089920	8105290	12706	36208											
SLC16A5	9121	broad.mit.edu	37	chr17	73094231	73094231	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggtggccagctccttcTctcacaacctcagccagctc	7	9	8	17	0	3	0	2	0	1	0	6	0	4	0	4	2	4	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73094231T>C	ENST00000450736.2	+	3	713	c.298T>C	c.(298-300)Tct>Cct	p.S100P	SLC16A5_ENST00000580123.1_Missense_Mutation_p.S100P|SLC16A5_ENST00000538213.2_Missense_Mutation_p.S140P|SLC16A5_ENST00000585293.1_3'UTR|SLC16A5_ENST00000329783.4_Missense_Mutation_p.S100P			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	100					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	CAGCTCCTTCTCTCACAACCT	0.587													C	73094231	T	C	73094231	3	2	364	1	0	0	0	0	1	0	0	0	14505	1551	54	3	304	3	SLC16A5	17	73094231	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4311	73094231	8100979	12707	36209											
SLC16A5	9121	broad.mit.edu	37	chr17	73096509	73096509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgatgtggtccgtcctgGgcttcccactgccacaagtc	5	11	12	13	1	0	1	0	1	0	0	4	1	3	1	4	2	1	1	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73096509G>A	ENST00000450736.2	+	4	1166	c.751G>A	c.(751-753)Ggc>Agc	p.G251S	SLC16A5_ENST00000580123.1_Missense_Mutation_p.G251S|SLC16A5_ENST00000538213.2_Missense_Mutation_p.G291S|SLC16A5_ENST00000329783.4_Missense_Mutation_p.G251S			O15375	MOT6_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 5	251					organic anion transport	integral to plasma membrane|membrane fraction	secondary active monocarboxylate transmembrane transporter activity|symporter activity			central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	all_lung(278;0.226)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)		Pyruvic acid(DB00119)	GTCCGTCCTGGGCTTCCCACT	0.607													A	73096509	G	A	73096509	3	1	364	1	0	0	0	0	1	0	0	0	14505	1232	43	2	761	2	SLC16A5	17	73096509	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2278	73096509	8098701	12708	36210											
NT5C	30833	broad.mit.edu	37	chr17	73126698	73126698	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtgccgattgtggcagcagGtgaacaagatgtgctcccag	9	8	15	9	1	0	2	0	1	0	1	1	3	1	2	2	3	4	3	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73126698G>T	ENST00000245552.2	-	5	578	c.491C>A	c.(490-492)aCc>aAc	p.T164N	NT5C_ENST00000582160.1_Missense_Mutation_p.T78N|NT5C_ENST00000578337.1_3'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.H162Q	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	164					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GTGGCAGCAGGTGAACAAGAT	0.577											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	73126698	G	T	73126698	3	4	364	1	0	0	0	0	1	0	0	0	10760	1261	44	4	118	4	NT5C	17	73126698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30189	73126698	8068512	12709	36211											
NUP85	79902	broad.mit.edu	37	chr17	73231231	73231231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagacttatgagttgatgCggtgtctggaggacttgacg	10	11	14	6	2	1	4	0	3	1	1	1	6	1	6	0	3	2	1	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73231231C>T	ENST00000245544.4	+	18	1875	c.1804C>T	c.(1804-1806)Cgg>Tgg	p.R602W	NUP85_ENST00000541827.1_Missense_Mutation_p.R556W|NUP85_ENST00000579298.1_Missense_Mutation_p.R557W|NUP85_ENST00000579324.1_Missense_Mutation_p.R490W|NUP85_ENST00000447371.2_3'UTR|NUP85_ENST00000540768.1_Missense_Mutation_p.R205W	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	602					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			TGAGTTGATGCGGTGTCTGGA	0.537													T	73231231	C	T	73231231	3	4	364	1	0	0	0	0	1	0	0	0	10846	759	27	1	1874	1	NUP85	17	73231231	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104533	73231231	7963979	12710	36212											
MRPS7	51081	broad.mit.edu	37	chr17	73258623	73258623	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtcctgaattcaaggaTcccttgattgacaaggaata	14	12	8	7	0	1	3	1	3	0	0	3	5	3	5	2	2	0	0	2	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73258623T>G	ENST00000579761.1	+	2	356	c.129T>G	c.(127-129)gaT>gaG	p.D43E	MRPS7_ENST00000579002.1_Missense_Mutation_p.D72E|MRPS7_ENST00000245539.6_Missense_Mutation_p.D43E			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	43					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			AATTCAAGGATCCCTTGATTG	0.512													G	73258623	T	G	73258623	3	3	364	1	0	0	0	0	1	0	0	0	9924	1432	50	5	135	5	MRPS7	17	73258623	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27392	73258623	7936587	12711	36213											
MRPS7	51081	broad.mit.edu	37	chr17	73261787	73261787	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtctcacccaggtccCtgtacccctacccgaccggc	5	8	8	20	2	1	0	1	0	1	0	4	1	3	0	7	2	2	1	7	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73261787C>A	ENST00000579002.1	+	4	1014	c.599C>A	c.(598-600)cCt>cAt	p.P200H	MRPS7_ENST00000245539.6_Missense_Mutation_p.P171H			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	171					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			ACCCAGGTCCCTGTACCCCTA	0.582													A	73261787	C	A	73261787	3	1	364	1	0	0	0	0	1	0	0	0	9924	681	24	4	530	4	MRPS7	17	73261787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3164	73261787	7933423	12712	36214											
SLC25A19	60386	broad.mit.edu	37	chr17	73274401	73274401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtccccacggcgtggcGcagcgtattatagacctgga	8	8	13	12	4	0	1	0	0	0	1	1	2	1	2	3	4	1	2	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73274401G>A	ENST00000402418.3	-	4	1384	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C	SLC25A19_ENST00000442286.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000580994.1_Missense_Mutation_p.R159C|SLC25A19_ENST00000416858.2_Missense_Mutation_p.R159C|SLC25A19_ENST00000320362.3_Missense_Mutation_p.R159C|SLC25A19_ENST00000375261.4_Missense_Mutation_p.R102C			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	159						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			ACGGCGTGGCGCAGCGTATTA	0.567													A	73274401	G	A	73274401	3	1	364	1	0	0	0	0	1	0	0	0	14575	1087	38	1	499	1	SLC25A19	17	73274401	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12614	73274401	7920809	12713	36215											
KIAA0195	9772	broad.mit.edu	37	chr17	73491697	73491697	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaacgtgcccctgctagtgCcccttttcaccgactgcacc	7	9	7	18	2	1	0	1	0	0	0	1	1	1	0	6	0	5	2	6	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73491697C>T	ENST00000314256.7	+	22	3311	c.2917C>T	c.(2917-2919)Ccc>Tcc	p.P973S	KIAA0195_ENST00000375248.5_Missense_Mutation_p.P983S|KIAA0195_ENST00000579208.1_Missense_Mutation_p.P624S	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	973					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCTGCTAGTGCCCCTTTTCAC	0.637													T	73491697	C	T	73491697	3	4	364	1	0	0	0	0	1	0	0	0	8218	739	26	2	2999	2	KIAA0195	17	73491697	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217296	73491697	7703513	12714	36216											
KIAA0195	9772	broad.mit.edu	37	chr17	73492414	73492414	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctgggagacctttggCtacgccaccagcatcagcat	8	9	10	14	1	1	1	1	0	0	1	2	2	2	1	4	2	4	4	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73492414C>T	ENST00000314256.7	+	24	3499	c.3105C>T	c.(3103-3105)ggC>ggT	p.G1035G	KIAA0195_ENST00000375248.5_Silent_p.G1045G|KIAA0195_ENST00000579208.1_Silent_p.G686G	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	1035					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGACCTTTGGCTACGCCACCA	0.622													T	73492414	C	T	73492414	2	4	364	1	0	0	0	0	0	0	0	1	8218	784	28	2		2	KIAA0195	17	73492414	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	717	73492414	7702796	12715	36217											
CASKIN2	57513	broad.mit.edu	37	chr17	73499250	73499250	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttggccagccggcgcccGccttcgctgagggcctcccc	2	6	12	21	4	0	1	0	1	0	0	2	1	1	1	8	3	1	1	8	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73499250G>A	ENST00000321617.3	-	18	2491	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CASKIN2_ENST00000433559.2_Silent_p.G553G	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	635						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCCGGCGCCCGCCTTCGCTGA	0.692													A	73499250	G	A	73499250	2	1	364	1	0	0	0	0	0	0	0	1	2693	1074	38	1		1	CASKIN2	17	73499250	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6836	73499250	7695960	12716	36218											
LLGL2	3993	broad.mit.edu	37	chr17	73569667	73569667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaaccaagaaccaccGccctggtaacggtgcgggcc	12	3	12	14	3	0	2	0	0	0	2	0	2	0	2	5	3	5	2	5	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73569667G>A	ENST00000392550.3	+	21	2948	c.2831G>A	c.(2830-2832)cGc>cAc	p.R944H	LLGL2_ENST00000577200.1_Missense_Mutation_p.R944H|LLGL2_ENST00000167462.5_Missense_Mutation_p.R944H	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	944					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AAGAACCACCGCCCTGGTAAC	0.652													A	73569667	G	A	73569667	3	1	364	1	0	0	0	0	1	0	0	0	8895	1087	38	1	2944	1	LLGL2	17	73569667	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70417	73569667	7625543	12717	36219											
RECQL5	9400	broad.mit.edu	37	chr17	73627598	73627598	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagccgttcccctgggaGggcccgatgcaggtcttgct	6	9	13	13	2	2	0	1	0	1	0	3	2	3	1	4	3	3	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73627598G>T	ENST00000317905.5	-	9	1539	c.1380C>A	c.(1378-1380)ccC>ccA	p.P460P	RECQL5_ENST00000423245.2_Silent_p.P433P|RECQL5_ENST00000443199.2_5'UTR	NM_004259.6	NP_004250.4	O94762	RECQ5_HUMAN	RecQ protein-like 5	460					DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			TCCCCTGGGAGGGCCCGATGC	0.687								Other identified genes with known or suspected DNA repair function					T	73627598	G	T	73627598	2	4	364	1	0	0	0	0	0	0	0	1	13291	987	35	4		4	RECQL5	17	73627598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57931	73627598	7567612	12718	36220											
RECQL5	9400	broad.mit.edu	37	chr17	73658586	73658586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcctcctgtccaagagcCttaaggcagaagtccttcag	10	9	9	13	0	2	2	2	0	0	2	5	2	5	2	5	1	2	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73658586C>A	ENST00000420326.2	-	4	903	c.744G>T	c.(742-744)aaG>aaT	p.K248N	RECQL5_ENST00000423245.2_Missense_Mutation_p.K221N|RECQL5_ENST00000340830.5_Missense_Mutation_p.K248N|RECQL5_ENST00000584999.1_Missense_Mutation_p.K248N|RECQL5_ENST00000317905.5_Missense_Mutation_p.K248N	NM_001003715.3|NM_001003716.3	NP_001003715.1|NP_001003716.1	O94762	RECQ5_HUMAN	RecQ protein-like 5	248	Helicase C-terminal.				DNA recombination|DNA repair	cytoplasm|nuclear membrane|nucleolus|nucleoplasm	ATP binding|ATP-dependent helicase activity|DNA helicase activity|nucleic acid binding			breast(1)|cervix(3)|endometrium(3)|kidney(7)|large_intestine(7)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	36	all_cancers(13;2.73e-08)|Breast(9;6.04e-09)|all_epithelial(9;6.79e-09)		all cancers(21;1.15e-06)|Epithelial(20;2.19e-06)|Lung(188;0.101)|LUSC - Lung squamous cell carcinoma(166;0.112)			GTCCAAGAGCCTTAAGGCAGA	0.512								Other identified genes with known or suspected DNA repair function					A	73658586	C	A	73658586	3	1	364	1	0	0	0	0	1	0	0	0	13291	680	24	4	2386	4	RECQL5	17	73658586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30988	73658586	7536624	12719	36221											
SAP30BP	29115	broad.mit.edu	37	chr17	73702562	73702562	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctccaagaccaccgtcatCtctgctgtgggcaccattgt	7	10	10	14	1	2	1	1	0	1	1	4	1	3	1	4	2	1	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73702562C>T	ENST00000584667.1	+	11	1145	c.888C>T	c.(886-888)atC>atT	p.I296I	SAP30BP_ENST00000355423.3_Silent_p.I280I	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	296					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCACCGTCATCTCTGCTGTGG	0.622													T	73702562	C	T	73702562	2	4	364	1	0	0	0	0	0	0	0	1	13926	903	32	2		2	SAP30BP	17	73702562	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43976	73702562	7492648	12720	36222											
ITGB4	3691	broad.mit.edu	37	chr17	73723542	73723542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctggccgcgggctgccagCgggagagcatcgtggtcatg	5	7	18	11	4	1	1	1	0	0	1	2	2	1	1	2	4	4	3	2	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73723542C>T	ENST00000200181.3	+	4	407	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	ITGB4_ENST00000450894.3_Missense_Mutation_p.R74W|ITGB4_ENST00000579662.1_Missense_Mutation_p.R74W|ITGB4_ENST00000449880.2_Missense_Mutation_p.R74W|ITGB4_ENST00000339591.3_Missense_Mutation_p.R74W|ITGB4_ENST00000584558.1_3'UTR	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	74					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGGCTGCCAGCGGGAGAGCAT	0.652													T	73723542	C	T	73723542	3	4	364	1	0	0	0	0	1	0	0	0	7955	759	27	1	230	1	ITGB4	17	73723542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20980	73723542	7471668	12721	36223											
ITGB4	3691	broad.mit.edu	37	chr17	73746348	73746348	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaagccaatggggtacaGggtaaggcggggggctgagg	9	5	21	6	1	0	1	0	1	0	0	0	1	0	1	1	9	2	4	1	9	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73746348G>T	ENST00000200181.3	+	28	3660	c.3473G>T	c.(3472-3474)aGg>aTg	p.R1158M	ITGB4_ENST00000450894.3_Splice_Site_p.R1158M|ITGB4_ENST00000579662.1_Splice_Site_p.R1158M|ITGB4_ENST00000449880.2_Splice_Site_p.R1158M|ITGB4_ENST00000339591.3_Splice_Site_p.R1158M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1158	Fibronectin type-III 1.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			ATGGGGTACAGGGTAAGGCGG	0.657											OREG0024739	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	73746348	G	T	73746348	5	4	364	1	0	0	0	0	0	0	1	0	7955	1014	35	4	3579	4	ITGB4	17	73746348	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22806	73746348	7448862	12722	36224											
ITGB4	3691	broad.mit.edu	37	chr17	73748345	73748345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgggagtcccagccctaccGctacacggtgaaggcgcgca	8	5	13	15	5	0	1	0	1	0	0	2	2	1	2	3	3	3	2	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73748345G>A	ENST00000200181.3	+	31	4071	c.3884G>A	c.(3883-3885)cGc>cAc	p.R1295H	ITGB4_ENST00000450894.3_Missense_Mutation_p.R1295H|ITGB4_ENST00000579662.1_Missense_Mutation_p.R1295H|ITGB4_ENST00000449880.2_Missense_Mutation_p.R1295H|GALK1_ENST00000225614.2_Intron|ITGB4_ENST00000339591.3_Missense_Mutation_p.R1295H	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	1295	Fibronectin type-III 2.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CAGCCCTACCGCTACACGGTG	0.622													A	73748345	G	A	73748345	3	1	364	1	0	0	0	0	1	0	0	0	7955	1087	38	1	4002	1	ITGB4	17	73748345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1997	73748345	7446865	12723	36225											
UNK	85451	broad.mit.edu	37	chr17	73808617	73808617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagtcggctggggctgcGagccatgccatgatagaaaa	10	6	15	10	2	0	2	0	1	0	1	1	3	0	2	3	4	3	2	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73808617G>A	ENST00000293218.3	+	5	801	c.801G>A	c.(799-801)gcG>gcA	p.A267A	UNK_ENST00000589666.1_Silent_p.A191A			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	191							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTGGGGCTGCGAGCCATGCCA	0.607													A	73808617	G	A	73808617	2	1	364	1	0	0	0	0	0	0	0	1	17102	1045	37	1		1	UNK	17	73808617	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60272	73808617	7386593	12724	36226											
UNC13D	201294	broad.mit.edu	37	chr17	73835975	73835975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcgtgcagaaagaggaCggtggcagcctggggactca	9	6	18	8	2	1	2	1	0	0	2	1	4	1	4	1	6	2	2	1	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73835975C>T	ENST00000207549.4	-	12	1379	c.1000G>A	c.(1000-1002)Gtc>Atc	p.V334I	UNC13D_ENST00000412096.2_Missense_Mutation_p.V334I|UNC13D_ENST00000587504.1_5'UTR	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	334	Interaction with RAB27A.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding	p.V334I(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGAAAGAGGACGGTGGCAGCC	0.667									Familial Hemophagocytic Lymphohistiocytosis				T	73835975	C	T	73835975	3	4	364	1	0	0	0	0	1	0	0	0	17089	536	19	1	2356	1	UNC13D	17	73835975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27358	73835975	7359235	12725	36227											
WBP2	23558	broad.mit.edu	37	chr17	73851271	73851271	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacccaccgcccacttcCtcgacacccgaactttggtc	8	7	5	21	3	0	0	0	0	0	0	3	2	1	0	6	1	1	0	6	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73851271C>A	ENST00000585462.1	-	0	132				WBP2_ENST00000254806.3_Intron|WBP2_ENST00000344296.4_Intron|WBP2_ENST00000590450.1_Intron|WBP2_ENST00000590221.1_Intron|WBP2_ENST00000433525.2_Intron|WBP2_ENST00000591399.1_Intron			Q969T9	WBP2_HUMAN	WW domain binding protein 2								protein binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7			all cancers(21;2.61e-06)|Epithelial(20;2.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCCCACTTCCTCGACACCCG	0.602													A	73851271	C	A	73851271	1	1	364	1	0	0	0	0	0	0	0	0	17361	696	24	4		4	WBP2	17	73851271	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15296	73851271	7343939	12726	36228											
TRIM47	91107	broad.mit.edu	37	chr17	73871043	73871043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcccagtagtaggtgcCtcggtccagggcaccctcgc	6	7	11	17	2	0	0	0	0	0	0	4	0	2	0	5	3	1	3	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73871043C>A	ENST00000254816.2	-	6	1464	c.1438G>T	c.(1438-1440)Ggc>Tgc	p.G480C	TRIM47_ENST00000587339.1_Missense_Mutation_p.G242C	NM_033452.2	NP_258411.2	Q96LD4	TRI47_HUMAN	tripartite motif containing 47	480	B30.2/SPRY.					cytoplasm|nucleus	zinc ion binding			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	22			Epithelial(20;4.23e-06)|all cancers(21;5.24e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAGTAGGTGCCTCGGTCCAGG	0.622													A	73871043	C	A	73871043	3	1	364	1	0	0	0	0	1	0	0	0	16623	681	24	4	482	4	TRIM47	17	73871043	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19772	73871043	7324167	12727	36229											
FBF1	85302	broad.mit.edu	37	chr17	73911096	73911096	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcggtggcttgactcAccttggcccgttccagctcc	4	11	12	14	2	1	2	1	2	0	0	3	2	3	2	4	3	2	3	4	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73911096A>G	ENST00000586717.1	-	23	2860		c.e23+1		FBF1_ENST00000389570.4_Splice_Site|FBF1_ENST00000319129.5_Splice_Site			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1											large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						GGCTTGACTCACCTTGGCCCG	0.652													G	73911096	A	G	73911096	5	3	364	1	0	0	0	0	0	0	1	0	5744	173	6	3	844	3	FBF1	17	73911096	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	40053	73911096	7284114	12728	36230											
FBF1	85302	broad.mit.edu	37	chr17	73919558	73919558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcactgaactttcccgatggGcctctctggtgggtgaggca	6	10	14	11	1	1	2	0	2	1	0	3	3	2	2	2	4	1	2	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73919558G>A	ENST00000586717.1	-	13	1364	c.1091C>T	c.(1090-1092)gCc>gTc	p.A364V	FBF1_ENST00000389570.4_Missense_Mutation_p.A364V|FBF1_ENST00000319129.5_Missense_Mutation_p.A363V			A6NLR5	A6NLR5_HUMAN	Fas (TNFRSF6) binding factor 1	363										large_intestine(2)|ovary(1)|upper_aerodigestive_tract(1)	4						TTCCCGATGGGCCTCTCTGGT	0.652													A	73919558	G	A	73919558	3	1	364	1	0	0	0	0	1	0	0	0	5744	1203	42	2	2381	2	FBF1	17	73919558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8462	73919558	7275652	12729	36231											
ACOX1	51	broad.mit.edu	37	chr17	73951917	73951917	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacagttcttacctggcaaaGgcttatgggtcccgatttca	10	12	9	10	1	2	0	1	0	1	0	3	1	3	0	2	3	2	3	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951917G>T	ENST00000537812.1	-	5	1184	c.536C>A	c.(535-537)cCt>cAt	p.P179H	ACOX1_ENST00000293217.5_Missense_Mutation_p.P217H|ACOX1_ENST00000301608.4_Missense_Mutation_p.P217H	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	217					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						ACCTGGCAAAGGCTTATGGGT	0.428													T	73951917	G	T	73951917	3	4	364	1	0	0	0	0	1	0	0	0	158	1000	35	4	1372	4	ACOX1	17	73951917	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32359	73951917	7243293	12730	36232											
ACOX1	51	broad.mit.edu	37	chr17	73951967	73951967	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgataaaggcatgtaatccAtagcatttccccttagtgat	13	12	7	9	1	0	1	0	1	0	0	2	2	2	1	3	1	1	3	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73951967A>G	ENST00000537812.1	-	5	1134	c.486T>C	c.(484-486)taT>taC	p.Y162Y	ACOX1_ENST00000293217.5_Silent_p.Y200Y|ACOX1_ENST00000591857.1_5'UTR|ACOX1_ENST00000301608.4_Silent_p.Y200Y	NM_001185039.1	NP_001171968.1	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	200					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						CATGTAATCCATAGCATTTCC	0.423													G	73951967	A	G	73951967	2	3	364	1	0	0	0	0	0	0	0	1	158	224	8	3		3	ACOX1	17	73951967	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	50	73951967	7243243	12731	36233											
ACOX1	51	broad.mit.edu	37	chr17	73969727	73969727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcccatttccgtctgggCgtaggtgccaattatctgga	6	12	13	10	2	2	0	0	0	2	0	3	1	3	1	3	4	1	1	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:73969727C>T	ENST00000301608.4	-	3	469	c.409G>A	c.(409-411)Gcc>Acc	p.A137T	ACOX1_ENST00000293217.5_Intron|ACOX1_ENST00000591857.1_Intron|ACOX1_ENST00000537812.1_Intron	NM_007292.5	NP_009223.2	Q15067	ACOX1_HUMAN	acyl-CoA oxidase 1, palmitoyl	137					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|prostaglandin metabolic process|very long-chain fatty acid metabolic process	peroxisomal matrix	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity|flavin adenine dinucleotide binding|protein N-terminus binding			large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(1)	14						TCCGTCTGGGCGTAGGTGCCA	0.478													T	73969727	C	T	73969727	3	4	364	1	0	0	0	0	1	0	0	0	158	768	27	1	1786	1	ACOX1	17	73969727	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17760	73969727	7225483	12732	36234											
EVPL	2125	broad.mit.edu	37	chr17	74003886	74003886	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggggccggggaggcgagCggggacttggagatgataga	8	5	23	5	3	0	3	0	1	0	2	0	7	0	5	1	9	1	0	1	9	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74003886C>T	ENST00000301607.3	-	22	5653	c.5400G>A	c.(5398-5400)ccG>ccA	p.P1800P	EVPL_ENST00000586740.1_Silent_p.P1822P	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1800	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GGGAGGCGAGCGGGGACTTGG	0.607													T	74003886	C	T	74003886	2	4	364	1	0	0	0	0	0	0	0	1	5333	755	27	1		1	EVPL	17	74003886	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34159	74003886	7191324	12733	36235											
EVPL	2125	broad.mit.edu	37	chr17	74004796	74004796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggttcttgcactccCgattcagctcggttacctgg	5	12	10	14	2	2	0	1	0	1	0	4	1	3	0	3	3	4	5	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74004796C>T	ENST00000301607.3	-	22	4743	c.4490G>A	c.(4489-4491)cGg>cAg	p.R1497Q	EVPL_ENST00000586740.1_Missense_Mutation_p.R1519Q	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1497	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CTTGCACTCCCGATTCAGCTC	0.582													T	74004796	C	T	74004796	3	4	364	1	0	0	0	0	1	0	0	0	5333	652	23	1	1615	1	EVPL	17	74004796	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	910	74004796	7190414	12734	36236											
EVPL	2125	broad.mit.edu	37	chr17	74006603	74006603	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcatcatgggtccttcGgatgtcctcactgagctcct	5	14	9	13	1	2	1	2	1	0	0	6	2	5	2	3	2	2	2	3	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74006603G>A	ENST00000301607.3	-	22	2936	c.2683C>T	c.(2683-2685)Cga>Tga	p.R895*	EVPL_ENST00000586740.1_Nonsense_Mutation_p.R917*	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	895	Central fibrous rod domain.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGGGTCCTTCGGATGTCCTCA	0.587													A	74006603	G	A	74006603	4	1	364	1	0	0	0	0	0	1	0	0	5333	1124	39	1	3422	1	EVPL	17	74006603	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1807	74006603	7188607	12735	36237											
SRP68	6730	broad.mit.edu	37	chr17	74060232	74060232	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctctttcagcatccAtcagaaccagaagcaagtat	13	9	7	12	0	3	2	2	0	1	2	5	2	5	2	3	1	3	4	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74060232A>C	ENST00000307877.2	-	4	547	c.386T>G	c.(385-387)aTg>aGg	p.M129R	SRP68_ENST00000539137.1_Missense_Mutation_p.M91R|SRP68_ENST00000355113.5_Missense_Mutation_p.M28R	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	129					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						TTCAGCATCCATCAGAACCAG	0.493													C	74060232	A	C	74060232	3	2	364	1	0	0	0	0	1	0	0	0	15252	217	8	5	1549	5	SRP68	17	74060232	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53629	74060232	7134978	12736	36238											
SRP68	6730	broad.mit.edu	37	chr17	74066475	74066475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacctgtacctctgaaaatCtccatgccgtaaaccatgct	12	11	5	13	1	2	1	0	1	2	0	3	1	2	1	5	0	5	3	5	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74066475C>A	ENST00000307877.2	-	2	396	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	SRP68_ENST00000539137.1_Missense_Mutation_p.D79Y|SRP68_ENST00000355113.5_Intron	NM_014230.3	NP_055045.2	Q9UHB9	SRP68_HUMAN	signal recognition particle 68kDa	79					response to drug	cytosol|endoplasmic reticulum|nucleolus|ribosome|signal recognition particle, endoplasmic reticulum targeting	RNA binding|signal recognition particle binding			NS(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(5)|lung(4)|ovary(2)|prostate(3)	23						CTCTGAAAATCTCCATGCCGT	0.373													A	74066475	C	A	74066475	3	1	364	1	0	0	0	0	1	0	0	0	15252	913	32	4	1708	4	SRP68	17	74066475	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6243	74066475	7128735	12737	36239											
ZACN	353174	broad.mit.edu	37	chr17	74077726	74077726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggggttgctgcccctccGggccattgagcgcataggct	4	8	16	13	3	0	1	0	1	0	0	1	1	1	1	4	5	3	4	4	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74077726G>A	ENST00000334586.5	+	7	853	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000591724.1_Intron|EXOC7_ENST00000332065.5_3'UTR	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	257	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						CTGCCCCTCCGGGCCATTGAG	0.622													A	74077726	G	A	74077726	3	1	364	1	0	0	0	0	1	0	0	0	17612	1116	39	1	796	1	ZACN	17	74077726	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11251	74077726	7117484	12738	36240											
EXOC7	23265	broad.mit.edu	37	chr17	74079743	74079743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggctcaggcagaggtgtCgaaaaggcgatcgatcatgt	11	7	15	8	3	2	1	2	0	0	1	4	4	2	1	0	4	0	3	0	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74079743C>T	ENST00000607838.1	-	20	2204	c.2110G>A	c.(2110-2112)Gac>Aac	p.D704N	EXOC7_ENST00000589210.1_Missense_Mutation_p.D681N|EXOC7_ENST00000467929.2_Missense_Mutation_p.D653N|EXOC7_ENST00000405575.4_Missense_Mutation_p.D690N|EXOC7_ENST00000411744.2_Missense_Mutation_p.D673N|EXOC7_ENST00000335146.7_Missense_Mutation_p.D732N|EXOC7_ENST00000332065.5_Missense_Mutation_p.D650N	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	732					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			GCAGAGGTGTCGAAAAGGCGA	0.582													T	74079743	C	T	74079743	3	4	364	1	0	0	0	0	1	0	0	0	5351	884	31	1	17	1	EXOC7	17	74079743	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2017	74079743	7115467	12739	36241											
QRICH2	84074	broad.mit.edu	37	chr17	74288647	74288647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgaactgcaccaggttgagCcaaatcactctgatctgcac	11	9	8	13	0	3	3	1	3	2	0	3	3	3	3	2	1	4	3	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74288647C>T	ENST00000262765.5	-	4	1842	c.1663G>A	c.(1663-1665)Gct>Act	p.A555T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	555	Gln-rich.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						CCAGGTTGAGCCAAATCACTC	0.532													T	74288647	C	T	74288647	3	4	364	1	0	0	0	0	1	0	0	0	12968	739	26	2	3392	2	QRICH2	17	74288647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	208904	74288647	6906563	12740	36242											
PRPSAP1	5635	broad.mit.edu	37	chr17	74307765	74307765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaacctcatgagggacaGtattcgtcaccaccacctag	11	9	8	13	1	3	2	2	2	1	0	4	3	3	3	4	1	1	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74307765G>T	ENST00000446526.3	-	10	1461	c.1016C>A	c.(1015-1017)aCt>aAt	p.T339N	PRPSAP1_ENST00000324684.4_Missense_Mutation_p.T236N|PRPSAP1_ENST00000588364.1_5'UTR	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1	310					nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ATGAGGGACAGTATTCGTCAC	0.433													T	74307765	G	T	74307765	3	4	364	1	0	0	0	0	1	0	0	0	12667	1029	36	4	145	4	PRPSAP1	17	74307765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19118	74307765	6887445	12741	36243											
PRPSAP1	5635	broad.mit.edu	37	chr17	74344663	74344663	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaattcagcaccaaggcgcCtatagatcaaaaagaacaaa	19	5	6	11	1	2	2	2	0	0	2	2	2	2	2	3	1	2	1	3	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74344663C>A	ENST00000446526.3	-	2	616		c.e2-1		PRPSAP1_ENST00000324684.4_Splice_Site	NM_002766.2	NP_002757.2	Q14558	KPRA_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 1						nucleotide biosynthetic process		enzyme inhibitor activity|identical protein binding|magnesium ion binding|ribose phosphate diphosphokinase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	17						ACCAAGGCGCCTATAGATCAA	0.259													A	74344663	C	A	74344663	5	1	364	1	0	0	0	0	0	0	1	0	12667	695	24	4	1023	4	PRPSAP1	17	74344663	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36898	74344663	6850547	12742	36244											
UBE2O	63893	broad.mit.edu	37	chr17	74392626	74392626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccagccttctccatcaGcccggccatgggggcagcca	6	7	11	17	1	2	0	1	0	1	0	3	0	2	0	6	3	4	1	6	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74392626G>A	ENST00000319380.7	-	14	2456	c.2392C>T	c.(2392-2394)Ctg>Ttg	p.L798L		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	798							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTCTCCATCAGCCCGGCCATG	0.632													A	74392626	G	A	74392626	2	1	364	1	0	0	0	0	0	0	0	1	16970	962	34	2		2	UBE2O	17	74392626	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47963	74392626	6802584	12743	36245											
UBE2O	63893	broad.mit.edu	37	chr17	74394562	74394562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacacacctccacgtcGtccccactcggcctcagctt	6	8	7	20	3	1	0	1	0	0	0	5	0	3	0	5	1	2	3	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74394562G>A	ENST00000319380.7	-	11	1951	c.1887C>T	c.(1885-1887)gaC>gaT	p.D629D	UBE2O_ENST00000587581.1_5'UTR	NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	629							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						CCTCCACGTCGTCCCCACTCG	0.607											OREG0024751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74394562	G	A	74394562	2	1	364	1	0	0	0	0	0	0	0	1	16970	1136	40	1		1	UBE2O	17	74394562	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1936	74394562	6800648	12744	36246											
UBE2O	63893	broad.mit.edu	37	chr17	74395629	74395629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgctctttttgcgactcGtgccgctgccgctctgggag	3	12	14	12	4	2	0	0	0	2	0	3	3	2	2	2	2	4	3	2	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74395629G>A	ENST00000319380.7	-	9	1593	c.1529C>T	c.(1528-1530)aCg>aTg	p.T510M		NM_022066.3	NP_071349.3	Q9C0C9	UBE2O_HUMAN	ubiquitin-conjugating enzyme E2O	510							ATP binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36						TTTGCGACTCGTGCCGCTGCC	0.547													A	74395629	G	A	74395629	3	1	364	1	0	0	0	0	1	0	0	0	16970	1145	40	1	2389	1	UBE2O	17	74395629	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1067	74395629	6799581	12745	36247											
AANAT	15	broad.mit.edu	37	chr17	74465918	74465918	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcatgtgcgaggacgcgCtggtacccttctatgagagg	7	9	14	11	4	2	1	1	1	1	1	2	4	2	2	1	3	2	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74465918C>A	ENST00000250615.3	+	7	1632	c.625C>A	c.(625-627)Ctg>Atg	p.L209M	AANAT_ENST00000392492.3_Missense_Mutation_p.L164M	NM_001166579.1	NP_001160051.1	Q16613	SNAT_HUMAN	aralkylamine N-acetyltransferase	164					circadian rhythm|melatonin biosynthetic process	cytosol	aralkylamine N-acetyltransferase activity			lung(1)	1						CGAGGACGCGCTGGTACCCTT	0.711													A	74465918	C	A	74465918	3	1	364	1	0	0	0	0	1	0	0	0	18	796	28	4	639	4	AANAT	17	74465918	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70289	74465918	6729292	12746	36248											
JMJD6	23210	broad.mit.edu	37	chr17	74714828	74714828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcacctggaggagctgcGctctttgctgacacagtcgt	6	10	14	11	2	2	1	1	1	1	0	3	3	2	3	1	3	3	3	1	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74714828G>A	ENST00000445478.2	-	6	1398	c.1195C>T	c.(1195-1197)Cgc>Tgc	p.R399C	JMJD6_ENST00000397625.4_Missense_Mutation_p.R399C|JMJD6_ENST00000585429.1_Silent_p.S352S	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	399					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						GAGGAGCTGCGCTCTTTGCTG	0.642													A	74714828	G	A	74714828	3	1	364	1	0	0	0	0	1	0	0	0	8011	1087	38	1	61	1	JMJD6	17	74714828	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	248910	74714828	6480382	12747	36249											
MGAT5B	146664	broad.mit.edu	37	chr17	74868844	74868844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcactcatgcactcattcGtaaaacatttgtgcagccgg	10	12	7	12	2	3	0	3	0	0	0	4	0	3	0	1	1	4	3	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:74868844G>A	ENST00000428789.2	+	1	116	c.13G>A	c.(13-15)Gta>Ata	p.V5I	MGAT5B_ENST00000301618.4_Intron|MGAT5B_ENST00000569840.2_Intron|MGAT5B_ENST00000374998.3_Intron|MGAT5B_ENST00000565675.1_Intron	NM_198955.1	NP_945193.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	0						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GCACTCATTCGTAAAACATTT	0.572													A	74868844	G	A	74868844	3	1	364	1	0	0	0	0	1	0	0	0	9624	1145	40	1	87	1	MGAT5B	17	74868844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154016	74868844	6326366	12748	36250											
SEC14L1	6397	broad.mit.edu	37	chr17	75196713	75196713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacccctcctcaggtcCttcaggattactacgcggga	7	9	10	15	2	2	0	2	0	0	0	4	3	4	3	5	4	2	0	5	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75196713C>A	ENST00000413679.2	+	9	1270	c.967C>A	c.(967-969)Ctt>Att	p.L323I	SEC14L1_ENST00000585618.1_Missense_Mutation_p.L323I|SEC14L1_ENST00000443798.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000431431.2_Missense_Mutation_p.L289I|SEC14L1_ENST00000436233.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000430767.4_Missense_Mutation_p.L323I|SEC14L1_ENST00000591437.1_Missense_Mutation_p.L289I|SEC14L1_ENST00000392476.2_Missense_Mutation_p.L323I	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	323	CRAL-TRIO.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						TCCTCAGGTCCTTCAGGATTA	0.468													A	75196713	C	A	75196713	3	1	364	1	0	0	0	0	1	0	0	0	14074	681	24	4	993	4	SEC14L1	17	75196713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	327869	75196713	5998497	12749	36251											
SEC14L1	6397	broad.mit.edu	37	chr17	75208175	75208175	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggagcccacagcatcacCtctccgggtgggaacaatgt	9	7	12	13	1	2	0	1	0	1	0	3	2	2	2	3	3	3	1	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208175C>A	ENST00000413679.2	+	15	2058	c.1755C>A	c.(1753-1755)acC>acA	p.T585T	SEC14L1_ENST00000585618.1_Silent_p.T585T|SEC14L1_ENST00000443798.4_Silent_p.T585T|SEC14L1_ENST00000431431.2_Silent_p.T551T|SEC14L1_ENST00000436233.4_Silent_p.T585T|SEC14L1_ENST00000430767.4_Silent_p.T585T|SEC14L1_ENST00000591437.1_Silent_p.T551T|SEC14L1_ENST00000392476.2_Silent_p.T585T	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	585	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						ACAGCATCACCTCTCCGGGTG	0.532													A	75208175	C	A	75208175	2	1	364	1	0	0	0	0	0	0	0	1	14074	668	24	4		4	SEC14L1	17	75208175	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11462	75208175	5987035	12750	36252											
SEC14L1	6397	broad.mit.edu	37	chr17	75208277	75208277	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctgcaaagaaggagaaagCgtgcaggtaaaatcacacac	18	5	10	8	1	2	2	1	0	1	2	2	3	2	2	0	2	3	3	0	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75208277C>T	ENST00000413679.2	+	15	2160	c.1857C>T	c.(1855-1857)agC>agT	p.S619S	SEC14L1_ENST00000585618.1_Silent_p.S619S|SEC14L1_ENST00000443798.4_Silent_p.S619S|SEC14L1_ENST00000431431.2_Silent_p.S585S|SEC14L1_ENST00000436233.4_Silent_p.S619S|SEC14L1_ENST00000430767.4_Silent_p.S619S|SEC14L1_ENST00000591437.1_Silent_p.S585S|SEC14L1_ENST00000392476.2_Silent_p.S619S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	619	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						AAGGAGAAAGCGTGCAGGTAA	0.542													T	75208277	C	T	75208277	2	4	364	1	0	0	0	0	0	0	0	1	14074	767	27	1		1	SEC14L1	17	75208277	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	75208277	5986933	12751	36253											
SEPT9	10801	broad.mit.edu	37	chr17	75398611	75398611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactgcccctgccaccgacGcagcccccaagagggtggag	8	3	12	18	2	0	1	0	0	0	1	0	3	0	2	7	2	3	1	7	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:75398611G>A	ENST00000329047.8	+	2	1305	c.493G>A	c.(493-495)Gca>Aca	p.A165T	SEPT9_ENST00000588690.1_Missense_Mutation_p.A19T|SEPT9_ENST00000591198.1_Missense_Mutation_p.A164T|SEPT9_ENST00000423034.2_Missense_Mutation_p.A176T|SEPT9_ENST00000592420.1_5'UTR|SEPT9_ENST00000449803.2_Missense_Mutation_p.A19T|SEPT9_ENST00000427674.2_Missense_Mutation_p.A19T|SEPT9_ENST00000590294.1_Missense_Mutation_p.A165T|SEPT9_ENST00000431235.2_Missense_Mutation_p.A19T|SEPT9_ENST00000427177.1_Missense_Mutation_p.A183T	NM_006640.4	NP_006631.2	Q9UHD8	SEPT9_HUMAN	septin 9	183					cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			TGCCACCGACGCAGCCCCCAA	0.677													A	75398611	G	A	75398611	3	1	364	1	0	0	0	0	1	0	0	0	14164	1087	38	1	642	1	SEPT9	17	75398611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190334	75398611	5796599	12752	36254											
TNRC6C	57690	broad.mit.edu	37	chr17	76045849	76045849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcatcagtttctcaaGtcagtgggggcagtgctgaa	10	11	13	7	0	4	1	4	1	1	0	5	2	4	2	0	3	1	3	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76045849G>A	ENST00000335749.4	+	3	1275	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	TNRC6C_ENST00000588847.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000544502.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000541771.1_Missense_Mutation_p.V236I|TNRC6C_ENST00000301624.4_Missense_Mutation_p.V236I|TNRC6C_ENST00000588061.1_Missense_Mutation_p.V236I	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	236	Gly-rich.|Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AGTTTCTCAAGTCAGTGGGGG	0.542													A	76045849	G	A	76045849	3	1	364	1	0	0	0	0	1	0	0	0	16442	1029	36	2	708	2	TNRC6C	17	76045849	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	647238	76045849	5149361	12753	36255											
TNRC6C	57690	broad.mit.edu	37	chr17	76046980	76046980	+	Frame_Shift_Del	DEL	A	A	-																															ttggacacttgggggatgggAaaaaaaatggatctggatgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76046980delA	ENST00000335749.4	+	3	2406	c.1837delA	c.(1837-1839)aaafs	p.K614fs	TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.K614fs|TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.K614fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	614	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GGGGGATGGGAAAAAAAATGG	0.522													-	76046980	A	-	76046980	7	5	364	1	0	1	0	1	0	0	0	0	16442	247	9	0	1839	0	TNRC6C	17	76046980	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	1131	76046980	5148230	12754	36256											
TMC6	11322	broad.mit.edu	37	chr17	76117674	76117674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaagacgtggacggccacgGcgcagcccagcgcggtcccc	8	2	15	16	6	0	2	0	0	0	2	1	3	1	3	4	4	2	1	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76117674G>A	ENST00000590602.1	-	11	1505	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000589553.1_Missense_Mutation_p.A222V|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000591436.1_Missense_Mutation_p.A88V|TMC6_ENST00000322933.4_Missense_Mutation_p.A88V|TMC6_ENST00000322914.3_Missense_Mutation_p.A449V|TMC6_ENST00000392467.3_Missense_Mutation_p.A449V			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	449						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			GACGGCCACGGCGCAGCCCAG	0.697													A	76117674	G	A	76117674	3	1	364	1	0	0	0	0	1	0	0	0	16089	1203	42	2	1111	2	TMC6	17	76117674	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70694	76117674	5077536	12755	36257											
TMC8	147138	broad.mit.edu	37	chr17	76130984	76130984	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctgctccagtacctgcccCctggggtcatcgccctggtc	3	10	11	17	1	1	0	1	0	0	0	4	0	2	0	5	3	4	3	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76130984C>A	ENST00000318430.5	+	9	1395	c.1021C>A	c.(1021-1023)Cct>Act	p.P341T	TMC8_ENST00000589691.1_Missense_Mutation_p.P118T	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	341						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GTACCTGCCCCCTGGGGTCAT	0.647													A	76130984	C	A	76130984	3	1	364	1	0	0	0	0	1	0	0	0	16091	623	22	4	1051	4	TMC8	17	76130984	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13310	76130984	5064226	12756	36258											
DNAH17	8632	broad.mit.edu	37	chr17	76447622	76447622	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcctcgagtccatcccTggtgaccaggaagttgatga	8	11	12	10	1	0	3	0	3	0	0	4	5	3	4	4	3	0	1	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76447622T>C	ENST00000389840.5	-	66	10745	c.10621A>G	c.(10621-10623)Agg>Ggg	p.R3541G	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.R3550G					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGTCCATCCCTGGTGACCAGG	0.562													C	76447622	T	C	76447622	3	2	364	1	0	0	0	0	1	0	0	0	4640	1579	55	3	2789	3	DNAH17	17	76447622	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	316638	76447622	4747588	12757	36259											
DNAH17	8632	broad.mit.edu	37	chr17	76450573	76450573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttctgtcccaggcggatgGctttcagttcactcctgtat	5	15	9	12	1	4	0	2	0	2	0	6	1	6	1	2	3	0	3	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76450573G>A	ENST00000389840.5	-	64	10467	c.10343C>T	c.(10342-10344)gCc>gTc	p.A3448V	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.A3457V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CAGGCGGATGGCTTTCAGTTC	0.582													A	76450573	G	A	76450573	3	1	364	1	0	0	0	0	1	0	0	0	4640	1203	42	2	3075	2	DNAH17	17	76450573	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2951	76450573	4744637	12758	36260											
DNAH17	8632	broad.mit.edu	37	chr17	76455116	76455116	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatccgggacagcttctcTtgtgcctctgccagctctgc	4	13	10	14	1	3	1	0	1	3	0	5	2	4	2	3	1	5	2	3	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76455116T>C	ENST00000389840.5	-	61	9910	c.9786A>G	c.(9784-9786)caA>caG	p.Q3262Q	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.Q3271Q					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACAGCTTCTCTTGTGCCTCTG	0.597													C	76455116	T	C	76455116	2	2	364	1	0	0	0	0	0	0	0	1	4640	1606	56	3		3	DNAH17	17	76455116	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4543	76455116	4740094	12759	36261											
DNAH17	8632	broad.mit.edu	37	chr17	76482147	76482147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcaaaaatcgttccctgCgaggggaacttgatagtctt	11	12	10	8	2	2	1	1	1	1	0	4	3	3	2	1	2	2	1	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76482147C>T	ENST00000389840.5	-	46	7252	c.7128G>A	c.(7126-7128)tcG>tcA	p.S2376S	RP11-559N14.5_ENST00000588565.1_RNA|RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Silent_p.S2385S					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TCGTTCCCTGCGAGGGGAACT	0.463													T	76482147	C	T	76482147	2	4	364	1	0	0	0	0	0	0	0	1	4640	755	27	1		1	DNAH17	17	76482147	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27031	76482147	4713063	12760	36262											
DNAH17	8632	broad.mit.edu	37	chr17	76487536	76487536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccgcgaaccttgttgtcatCcatgactgtgttgagagact	8	12	10	11	2	1	3	1	2	0	1	2	5	2	3	3	0	1	2	3	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487536C>A	ENST00000389840.5	-	43	6740	c.6616G>T	c.(6616-6618)Gat>Tat	p.D2206Y	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.D2215Y					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTGTTGTCATCCATGACTGTG	0.607													A	76487536	C	A	76487536	3	1	364	1	0	0	0	0	1	0	0	0	4640	855	30	4	6886	4	DNAH17	17	76487536	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5389	76487536	4707674	12761	36263											
DNAH17	8632	broad.mit.edu	37	chr17	76487568	76487568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagagactcgatccacatgGggtctatgtctccgtcaagg	9	10	12	10	2	3	2	1	1	2	1	6	4	4	2	2	3	0	0	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76487568G>T	ENST00000389840.5	-	43	6708	c.6584C>A	c.(6583-6585)cCc>cAc	p.P2195H	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2204H					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCCACATGGGGTCTATGTC	0.607													T	76487568	G	T	76487568	3	4	364	1	0	0	0	0	1	0	0	0	4640	1232	43	4	6918	4	DNAH17	17	76487568	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	76487568	4707642	12762	36264											
DNAH17	8632	broad.mit.edu	37	chr17	76488801	76488801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaggtccacggcgaccGgcttcctcttcaggttctga	5	10	12	14	3	3	1	1	1	2	0	6	2	6	1	4	5	0	2	4	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76488801G>A	ENST00000389840.5	-	42	6537	c.6413C>T	c.(6412-6414)cCg>cTg	p.P2138L	RP11-559N14.5_ENST00000585969.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.P2147L					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CACGGCGACCGGCTTCCTCTT	0.577													A	76488801	G	A	76488801	3	1	364	1	0	0	0	0	1	0	0	0	4640	1116	39	1	7093	1	DNAH17	17	76488801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1233	76488801	4706409	12763	36265											
DNAH17	8632	broad.mit.edu	37	chr17	76548828	76548828	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctcaataacttgacatcAattgcttccagttctgactt	10	14	6	11	1	3	2	2	2	1	0	4	2	4	2	1	0	2	3	1	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76548828A>G	ENST00000389840.5	-	15	2362	c.2238T>C	c.(2236-2238)atT>atC	p.I746I	DNAH17_ENST00000585328.1_Silent_p.I746I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGACATCAATTGCTTCCA	0.423													G	76548828	A	G	76548828	2	3	364	1	0	0	0	0	0	0	0	1	4640	126	5	3		3	DNAH17	17	76548828	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	60027	76548828	4646382	12764	36266											
DNAH17	8632	broad.mit.edu	37	chr17	76554290	76554290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtctggaatctctttcTgttgctggaaattcaaatac	10	15	7	9	0	4	0	1	0	3	0	5	2	4	2	0	2	2	2	0	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76554290T>C	ENST00000389840.5	-	14	2202	c.2078A>G	c.(2077-2079)cAg>cGg	p.Q693R	DNAH17_ENST00000585328.1_Missense_Mutation_p.Q693R					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AATCTCTTTCTGTTGCTGGAA	0.453													C	76554290	T	C	76554290	3	2	364	1	0	0	0	0	1	0	0	0	4640	1580	55	3	11582	3	DNAH17	17	76554290	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5462	76554290	4640920	12765	36267											
USP36	57602	broad.mit.edu	37	chr17	76825052	76825052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctggacaatgtggttCtgcatgacacacagcatgca	12	8	11	10	0	1	1	0	1	1	0	1	2	1	2	1	3	3	4	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76825052C>A	ENST00000542802.3	-	5	956	c.513G>T	c.(511-513)caG>caT	p.Q171H	USP36_ENST00000590546.2_Missense_Mutation_p.Q171H|USP36_ENST00000312010.6_Missense_Mutation_p.Q171H|USP36_ENST00000589424.1_Missense_Mutation_p.Q171H			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			CAATGTGGTTCTGCATGACAC	0.512													A	76825052	C	A	76825052	3	1	364	1	0	0	0	0	1	0	0	0	17169	912	32	4	2922	4	USP36	17	76825052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	270762	76825052	4370158	12766	36268											
LGALS3BP	3959	broad.mit.edu	37	chr17	76967788	76967788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccagggcactgggaatcGcagccttccagccctcgaaa	9	7	11	14	2	0	0	0	0	0	0	4	2	2	1	4	2	2	2	4	2	2	1	rs150793355		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76967788G>A	ENST00000262776.3	-	6	1936	c.1628C>T	c.(1627-1629)gCg>gTg	p.A543V	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	543					cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACTGGGAATCGCAGCCTTCCA	0.622											OREG0024787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	76967788	G	A	76967788	3	1	364	1	0	0	0	0	1	0	0	0	8803	1087	38	1	133	1	LGALS3BP	17	76967788	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142736	76967788	4227422	12767	36269											
LGALS3BP	3959	broad.mit.edu	37	chr17	76968416	76968416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctcctcatgggaggCacgctccccccagctccagg	6	6	9	20	1	1	0	1	0	0	0	5	1	5	1	7	3	1	3	7	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76968416C>T	ENST00000262776.3	-	6	1308	c.1000G>A	c.(1000-1002)Gcc>Acc	p.A334T	LGALS3BP_ENST00000591778.1_3'UTR	NM_005567.3	NP_005558.1	Q08380	LG3BP_HUMAN	lectin, galactoside-binding, soluble, 3 binding protein	334	BACK.				cell adhesion|cellular defense response	extracellular space|membrane|proteinaceous extracellular matrix	protein binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(5)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(99;0.0677)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCATGGGAGGCACGCTCCCCC	0.637													T	76968416	C	T	76968416	3	4	364	1	0	0	0	0	1	0	0	0	8803	710	25	2	761	2	LGALS3BP	17	76968416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	628	76968416	4226794	12768	36270											
CANT1	124583	broad.mit.edu	37	chr17	76989898	76989898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaggttggcgcccttgcGctcgtcgtccttctcgctgt	2	12	12	15	5	1	0	0	0	1	0	5	0	2	0	2	2	2	4	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:76989898G>A	ENST00000302345.2	-	4	1434	c.940C>T	c.(940-942)Cgc>Tgc	p.R314C	CANT1_ENST00000591773.1_Missense_Mutation_p.R314C|CANT1_ENST00000392446.5_Missense_Mutation_p.R314C	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	314					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			GCGCCCTTGCGCTCGTCGTCC	0.672			T	ETV4	prostate								A	76989898	G	A	76989898	3	1	364	1	0	0	0	0	1	0	0	0	2643	1087	38	1	269	1	CANT1	17	76989898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21482	76989898	4205312	12769	36271											
ENGASE	64772	broad.mit.edu	37	chr17	77080732	77080732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaccacaggggatgccGgcagctgccacatcggtggc	8	5	15	13	2	0	1	0	1	0	0	1	2	0	2	3	5	4	3	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77080732G>A	ENST00000579016.1	+	11	1555	c.1555G>A	c.(1555-1557)Ggc>Agc	p.G519S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	519						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGGGGATGCCGGCAGCTGCCA	0.612													A	77080732	G	A	77080732	3	1	364	1	0	0	0	0	1	0	0	0	5159	1116	39	1	1597	1	ENGASE	17	77080732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90834	77080732	4114478	12770	36272											
ENGASE	64772	broad.mit.edu	37	chr17	77082252	77082252	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgaggccagagatgcccAtgttcctggggttggctttt	5	12	14	10	1	0	1	0	0	0	1	1	3	1	1	4	4	2	3	4	4	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77082252A>G	ENST00000579016.1	+	14	2053	c.2053A>G	c.(2053-2055)Atg>Gtg	p.M685V		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	685						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						AGAGATGCCCATGTTCCTGGG	0.617													G	77082252	A	G	77082252	3	3	364	1	0	0	0	0	1	0	0	0	5159	217	8	3	2107	3	ENGASE	17	77082252	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1520	77082252	4112958	12771	36273											
ENPP7	339221	broad.mit.edu	37	chr17	77709177	77709177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacctgatcatcacatcCgaccacggcatgacgaccgt	11	7	7	16	4	3	2	3	2	0	0	4	4	4	2	4	1	1	1	4	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77709177C>T	ENST00000328313.5	+	3	956	c.735C>T	c.(733-735)tcC>tcT	p.S245S		NM_178543.3	NP_848638.3	Q6UWV6	ENPP7_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 7	245					negative regulation of cell proliferation|negative regulation of DNA replication|sphingomyelin metabolic process	Golgi apparatus|integral to membrane|microvillus	sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(6)|skin(3)	34			OV - Ovarian serous cystadenocarcinoma(97;0.016)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TCATCACATCCGACCACGGCA	0.617													T	77709177	C	T	77709177	2	4	364	1	0	0	0	0	0	0	0	1	5176	639	23	1		1	ENPP7	17	77709177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	626925	77709177	3486033	12772	36274											
CBX2	84733	broad.mit.edu	37	chr17	77758262	77758262	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagggtgcctgctgggtgCccaggcccccagccagcacc	6	4	14	17	0	0	0	0	0	0	0	0	0	0	0	6	3	6	3	6	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77758262C>T	ENST00000310942.4	+	5	1124	c.1020C>T	c.(1018-1020)tgC>tgT	p.C340C		NM_005189.2	NP_005180.1	Q14781	CBX2_HUMAN	chromobox homolog 2	340					cell differentiation|chromatin modification|development of primary sexual characteristics|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTGCTGGGTGCCCAGGCCCCC	0.682													T	77758262	C	T	77758262	2	4	364	1	0	0	0	0	0	0	0	1	2744	747	26	2		2	CBX2	17	77758262	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49085	77758262	3436948	12773	36275											
CBX4	8535	broad.mit.edu	37	chr17	77808427	77808427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccggcatcctggggctgCggatcgctaaccccggacac	7	5	14	15	4	0	0	0	0	0	0	2	3	1	2	4	5	3	3	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808427C>T	ENST00000269397.4	-	5	1191	c.1014G>A	c.(1012-1014)ccG>ccA	p.P338P		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	338	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CCTGGGGCTGCGGATCGCTAA	0.667											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77808427	C	T	77808427	2	4	364	1	0	0	0	0	0	0	0	1	2746	755	27	1		1	CBX4	17	77808427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50165	77808427	3386783	12774	36276			1	44		6	6	683	N	T_G_C	2.942176e-05
CBX4	8535	broad.mit.edu	37	chr17	77808500	77808500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttctcctctgcgcccGccgcctttttaaaagtcctg	4	14	6	17	3	3	0	0	0	3	0	5	0	4	0	6	0	1	0	6	0	2	5	rs140935310	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808500G>A	ENST00000269397.4	-	5	1118	c.941C>T	c.(940-942)gCg>gTg	p.A314V		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	314	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTCTGCGCCCGCCGCCTTTTT	0.692											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	77808500	G	A	77808500	3	1	364	1	0	0	0	0	1	0	0	0	2746	1087	38	1	745	1	CBX4	17	77808500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73	77808500	3386710	12775	36277			1	44		6	6	683	N	T_G_C	2.942176e-05
CBX4	8535	broad.mit.edu	37	chr17	77808613	77808613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccggacttgatcttcacCgcctgcatgccgttctccat	5	12	8	16	4	3	1	1	1	2	0	5	2	3	2	5	1	2	2	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808613C>T	ENST00000269397.4	-	5	1005	c.828G>A	c.(826-828)gcG>gcA	p.A276A		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	276	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TGATCTTCACCGCCTGCATGC	0.592											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77808613	C	T	77808613	2	4	364	1	0	0	0	0	0	0	0	1	2746	639	23	1		1	CBX4	17	77808613	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113	77808613	3386597	12776	36278			1	44		6	6	683	N	T_G_C	2.942176e-05
CBX4	8535	broad.mit.edu	37	chr17	77808831	77808831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcccccaggtagcctttggCccccgcaccttgcgcccact	4	7	9	21	3	0	0	0	0	0	0	0	0	0	0	7	2	2	2	7	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808831C>T	ENST00000269397.4	-	5	787	c.610G>A	c.(610-612)Gcc>Acc	p.A204T		NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	204	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			TAGCCTTTGGCCCCCGCACCT	0.736											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77808831	C	T	77808831	3	4	364	1	0	0	0	0	1	0	0	0	2746	739	26	2	1076	2	CBX4	17	77808831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218	77808831	3386379	12777	36279			1	44		6	6	683	N	T_G_C	2.942176e-05
CBX4	8535	broad.mit.edu	37	chr17	77808854	77808854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccttgcgcccacttgTcgggcgggtggctcttggcc	2	9	14	16	4	1	0	0	0	1	0	2	0	1	0	4	4	1	2	4	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77808854T>C	ENST00000269397.4	-	5	764	c.587A>G	c.(586-588)gAc>gGc	p.D196G	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	196	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CGCCCACTTGTCGGGCGGGTG	0.721											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	77808854	T	C	77808854	3	2	364	1	0	0	0	0	1	0	0	0	2746	1667	58	3	1099	3	CBX4	17	77808854	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23	77808854	3386356	12778	36280			1	44		6	6	683	N	T_G_C	2.942176e-05
CBX4	8535	broad.mit.edu	37	chr17	77809109	77809109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggcccttcccctgcGcgcccaaatccagcttggca	5	7	9	20	2	0	0	0	0	0	0	2	0	2	0	7	2	2	2	7	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77809109G>A	ENST00000269397.4	-	5	509	c.332C>T	c.(331-333)gCg>gTg	p.A111V	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	111	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			CTTCCCCTGCGCGCCCAAATC	0.657											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	77809109	G	A	77809109	3	1	364	1	0	0	0	0	1	0	0	0	2746	1087	38	1	1354	1	CBX4	17	77809109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255	77809109	3386101	12779	36281			1	44		6	6	683	N	T_G_C	2.942176e-05
TBC1D16	125058	broad.mit.edu	37	chr17	77921465	77921465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtttctccatgtcctcGtcccggggtgagctgacgaa	6	12	12	11	3	1	2	0	2	1	0	5	3	3	2	3	2	1	3	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:77921465G>A	ENST00000310924.2	-	9	1822	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	TBC1D16_ENST00000570373.1_Silent_p.D208D|TBC1D16_ENST00000572862.1_Silent_p.D207D|TBC1D16_ENST00000576768.1_Silent_p.D194D|TBC1D16_ENST00000340848.7_Silent_p.D207D	NM_001271844.1|NM_001271845.1|NM_019020.2	NP_001258773.1|NP_001258774.1|NP_061893.2	Q8TBP0	TBC16_HUMAN	TBC1 domain family, member 16	569	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(3)	28	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.00739)|BRCA - Breast invasive adenocarcinoma(99;0.0819)			CCATGTCCTCGTCCCGGGGTG	0.607													A	77921465	G	A	77921465	2	1	364	1	0	0	0	0	0	0	0	1	15702	1136	40	1		1	TBC1D16	17	77921465	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112356	77921465	3273745	12780	36282											
CCDC40	55036	broad.mit.edu	37	chr17	78011930	78011930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaaaccaggtcccatcCggaagatggatcggcttctg	10	9	10	12	2	2	1	0	0	2	1	5	3	4	3	3	4	1	1	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78011930C>A	ENST00000397545.4	+	2	65	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	CCDC40_ENST00000374876.4_Missense_Mutation_p.P13Q|CCDC40_ENST00000269318.5_Missense_Mutation_p.P13Q|CCDC40_ENST00000374877.3_Missense_Mutation_p.P13Q	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	13					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGGTCCCATCCGGAAGATGGA	0.423													A	78011930	C	A	78011930	3	1	364	1	0	0	0	0	1	0	0	0	2839	652	23	4	44	4	CCDC40	17	78011930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90465	78011930	3183280	12781	36283											
CCDC40	55036	broad.mit.edu	37	chr17	78022390	78022390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctccccccagtgatccccCcaggggtgcccgatgcccac	5	6	9	21	1	1	1	0	1	1	0	3	2	2	1	8	2	2	0	8	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78022390C>A	ENST00000397545.4	+	5	712	c.685C>A	c.(685-687)Cca>Aca	p.P229T	CCDC40_ENST00000374876.4_Missense_Mutation_p.P229T|CCDC40_ENST00000269318.5_Missense_Mutation_p.P229T|CCDC40_ENST00000374877.3_Missense_Mutation_p.P229T	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	229					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGTGATCCCCCCAGGGGTGCC	0.617													A	78022390	C	A	78022390	3	1	364	1	0	0	0	0	1	0	0	0	2839	623	22	4	703	4	CCDC40	17	78022390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10460	78022390	3172820	12782	36284											
CCDC40	55036	broad.mit.edu	37	chr17	78023713	78023713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattgttctagcccctgatGgtaagattccaggctgccct	7	12	9	13	0	1	2	0	1	1	1	2	2	2	2	5	2	2	3	5	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023713G>T	ENST00000397545.4	+	6	891	c.864G>T	c.(862-864)atG>atT	p.M288I	CCDC40_ENST00000374876.4_Missense_Mutation_p.M288I|CCDC40_ENST00000269318.5_Missense_Mutation_p.M288I|CCDC40_ENST00000374877.3_Missense_Mutation_p.M288I	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	288					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			AGCCCCTGATGGTAAGATTCC	0.567													T	78023713	G	T	78023713	3	4	364	1	0	0	0	0	1	0	0	0	2839	1348	47	4	886	4	CCDC40	17	78023713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1323	78023713	3171497	12783	36285											
CCDC40	55036	broad.mit.edu	37	chr17	78023947	78023947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcacctggtacacctgCagaagctgctggagaagagt	12	6	13	10	0	0	3	0	0	0	3	0	4	0	3	2	2	6	6	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78023947C>T	ENST00000397545.4	+	7	1051	c.1024C>T	c.(1024-1026)Cag>Tag	p.Q342*	CCDC40_ENST00000374876.4_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000269318.5_Nonsense_Mutation_p.Q342*|CCDC40_ENST00000374877.3_Nonsense_Mutation_p.Q342*	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	342					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGTACACCTGCAGAAGCTGCT	0.627													T	78023947	C	T	78023947	4	4	364	1	0	0	0	0	0	1	0	0	2839	711	25	2	1050	2	CCDC40	17	78023947	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234	78023947	3171263	12784	36286											
CCDC40	55036	broad.mit.edu	37	chr17	78073542	78073542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggtcagccagatgatcGccaacaagctcgagtcacca	14	5	9	13	2	2	2	2	1	0	1	4	3	2	2	3	1	3	1	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78073542G>A	ENST00000397545.4	+	20	3424	c.3397G>A	c.(3397-3399)Gcc>Acc	p.A1133T		NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	1133					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			CCAGATGATCGCCAACAAGCT	0.617													A	78073542	G	A	78073542	3	1	364	1	0	0	0	0	1	0	0	0	2839	1087	38	1	3475	1	CCDC40	17	78073542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49595	78073542	3121668	12785	36287											
GAA	2548	broad.mit.edu	37	chr17	78078631	78078631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcagtgcccacacagtgCgacgtcccccccaacagccg	10	3	10	18	3	0	1	0	0	0	1	1	2	1	1	5	0	5	1	5	0	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78078631C>T	ENST00000302262.3	+	2	465	c.246C>T	c.(244-246)tgC>tgT	p.C82C	GAA_ENST00000390015.3_Silent_p.C82C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	82	P-type.				cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CCACACAGTGCGACGTCCCCC	0.677													T	78078631	C	T	78078631	2	4	364	1	0	0	0	0	0	0	0	1	6199	776	27	1		1	GAA	17	78078631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5089	78078631	3116579	12786	36288											
GAA	2548	broad.mit.edu	37	chr17	78079616	78079616	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtccacagccgggcaccGtccccactctacagcgtgga	8	6	10	17	3	1	0	0	0	1	0	3	1	3	1	5	2	3	1	5	2	1	1	rs141427808		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78079616G>A	ENST00000302262.3	+	3	834	c.615G>A	c.(613-615)ccG>ccA	p.P205P	GAA_ENST00000390015.3_Silent_p.P205P	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	205					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	GCCGGGCACCGTCCCCACTCT	0.622													A	78079616	G	A	78079616	2	1	364	1	0	0	0	0	0	0	0	1	6199	1132	40	1		1	GAA	17	78079616	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	985	78079616	3115594	12787	36289											
GAA	2548	broad.mit.edu	37	chr17	78083763	78083763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatcctgccatcagcagctCgggccctgccgggagctaca	7	6	13	15	2	1	0	1	0	0	0	3	2	2	2	4	3	6	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78083763C>T	ENST00000302262.3	+	9	1565	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	GAA_ENST00000390015.3_Missense_Mutation_p.S449L	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	449					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ATCAGCAGCTCGGGCCCTGCC	0.647													T	78083763	C	T	78083763	3	4	364	1	0	0	0	0	1	0	0	0	6199	893	31	1	1376	1	GAA	17	78083763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4147	78083763	3111447	12788	36290											
GAA	2548	broad.mit.edu	37	chr17	78085806	78085806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggggggaccctccaggCggccaccatctgtgcctcca	5	7	14	15	1	1	0	0	0	1	0	3	1	3	1	6	6	1	1	6	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78085806C>T	ENST00000302262.3	+	12	1880	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	GAA_ENST00000390015.3_Missense_Mutation_p.A554V	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	554					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	ACCCTCCAGGCGGCCACCATC	0.667													T	78085806	C	T	78085806	3	4	364	1	0	0	0	0	1	0	0	0	6199	768	27	1	1703	1	GAA	17	78085806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2043	78085806	3109404	12789	36291											
GAA	2548	broad.mit.edu	37	chr17	78090861	78090861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctccaggccgggaaggccGaagtgactggctacttcccc	7	7	13	14	2	0	1	0	1	0	0	2	3	2	2	5	4	2	2	5	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78090861G>A	ENST00000302262.3	+	16	2503	c.2284G>A	c.(2284-2286)Gaa>Aaa	p.E762K	GAA_ENST00000390015.3_Missense_Mutation_p.E762K	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	762					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CGGGAAGGCCGAAGTGACTGG	0.647													A	78090861	G	A	78090861	3	1	364	1	0	0	0	0	1	0	0	0	6199	1059	37	1	2342	1	GAA	17	78090861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5055	78090861	3104349	12790	36292											
GAA	2548	broad.mit.edu	37	chr17	78092019	78092019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcacaaccacagagtccCgccagcagcccatggccctg	9	4	9	19	1	1	1	1	0	0	1	2	1	2	1	6	1	3	1	6	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092019C>T	ENST00000302262.3	+	18	2728	c.2509C>T	c.(2509-2511)Cgc>Tgc	p.R837C	GAA_ENST00000390015.3_Missense_Mutation_p.R837C	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	837					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	CACAGAGTCCCGCCAGCAGCC	0.667													T	78092019	C	T	78092019	3	4	364	1	0	0	0	0	1	0	0	0	6199	652	23	1	2575	1	GAA	17	78092019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1158	78092019	3103191	12791	36293											
GAA	2548	broad.mit.edu	37	chr17	78092152	78092152	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcatcttcctggccaGgaatgtgagtcctggggctg	7	10	14	10	0	2	1	1	1	1	0	4	2	4	2	3	5	0	1	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78092152G>T	ENST00000302262.3	+	18	2861	c.2642G>T	c.(2641-2643)aGg>aTg	p.R881M	GAA_ENST00000390015.3_Missense_Mutation_p.R881M	NM_000152.3	NP_000143.2	P10253	LYAG_HUMAN	glucosidase, alpha; acid	881					cardiac muscle contraction|diaphragm contraction|glycogen catabolic process|lysosome organization|tongue morphogenesis|vacuolar sequestering|ventricular cardiac muscle tissue morphogenesis	lysosomal membrane	carbohydrate binding|maltose alpha-glucosidase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	21	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		Acarbose(DB00284)	TTCCTGGCCAGGAATGTGAGT	0.667													T	78092152	G	T	78092152	3	4	364	1	0	0	0	0	1	0	0	0	6199	1000	35	4	2708	4	GAA	17	78092152	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	78092152	3103058	12792	36294											
EIF4A3	9775	broad.mit.edu	37	chr17	78109893	78109893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attctttacaaagttaatggCcacacccttccggccgtatc	10	12	6	13	2	1	0	0	0	1	0	3	0	2	0	4	2	1	2	4	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78109893C>T	ENST00000269349.3	-	11	1350	c.1129G>A	c.(1129-1131)Gcc>Acc	p.A377T		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	377	Helicase C-terminal.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	p.A377P(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			AAGTTAATGGCCACACCCTTC	0.393													T	78109893	C	T	78109893	3	4	364	1	0	0	0	0	1	0	0	0	5067	739	26	2	114	2	EIF4A3	17	78109893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17741	78109893	3085317	12793	36295											
CARD14	79092	broad.mit.edu	37	chr17	78163620	78163620	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacaggagctggtggagcgCatccactcgctgcgggagcg	7	5	17	12	5	0	0	0	0	0	0	2	4	1	3	1	4	4	3	1	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78163620C>T	ENST00000573882.1	+	8	1448	c.912C>T	c.(910-912)cgC>cgT	p.R304R	CARD14_ENST00000392434.2_Silent_p.R67R|CARD14_ENST00000570421.1_Silent_p.R304R|CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Silent_p.R304R			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	304					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TGGTGGAGCGCATCCACTCGC	0.682													T	78163620	C	T	78163620	2	4	364	1	0	0	0	0	0	0	0	1	2672	697	25	2		2	CARD14	17	78163620	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53727	78163620	3031590	12794	36296											
RNF213	57674	broad.mit.edu	37	chr17	78237505	78237505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtccttcgtgccagcatGtctccaaggaggaaaccccc	9	8	10	14	1	1	0	0	0	1	0	4	2	2	2	5	2	3	1	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78237505G>A	ENST00000582970.1	+	2	168	c.25G>A	c.(25-27)Gtc>Atc	p.V9I	RNF213_ENST00000456466.1_Missense_Mutation_p.V9I|RNF213_ENST00000508628.2_Missense_Mutation_p.V9I|RNF213_ENST00000319921.4_Missense_Mutation_p.V9I	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	9										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GTGCCAGCATGTCTCCAAGGA	0.612													A	78237505	G	A	78237505	3	1	364	1	0	0	0	0	1	0	0	0	13568	1377	48	2	27	2	RNF213	17	78237505	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73885	78237505	2957705	12795	36297											
RNF213	57674	broad.mit.edu	37	chr17	78272171	78272171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgcatggacacaaggaCgtacacctggctgggcgccc	11	5	13	12	2	0	1	0	0	0	1	0	3	0	3	2	4	2	3	2	4	3	1	rs139456294	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78272171C>T	ENST00000582970.1	+	11	2206	c.2063C>T	c.(2062-2064)aCg>aTg	p.T688M	RNF213_ENST00000456466.1_Missense_Mutation_p.T688M|RNF213_ENST00000508628.2_Missense_Mutation_p.T737M|RNF213_ENST00000319921.4_Missense_Mutation_p.T688M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	688										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GACACAAGGACGTACACCTGG	0.622													T	78272171	C	T	78272171	3	4	364	1	0	0	0	0	1	0	0	0	13568	536	19	1	2252	1	RNF213	17	78272171	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34666	78272171	2923039	12796	36298											
RNF213	57674	broad.mit.edu	37	chr17	78314123	78314123	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttcaatgaccggctgtgtGttgggatcgtggcctcggag	5	12	16	8	3	1	1	1	1	0	0	3	3	1	3	2	4	0	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78314123G>C	ENST00000582970.1	+	26	6099	c.5956G>C	c.(5956-5958)Gtt>Ctt	p.V1986L	RNF213_ENST00000508628.2_Missense_Mutation_p.V2035L|RNF213_ENST00000336301.6_Missense_Mutation_p.V59L	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CCGGCTGTGTGTTGGGATCGT	0.687													C	78314123	G	C	78314123	3	2	364	1	0	0	0	0	1	0	0	0	13568	1377	48	4	6373	4	RNF213	17	78314123	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41952	78314123	2881087	12797	36299											
RNF213	57674	broad.mit.edu	37	chr17	78317077	78317077	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctgcccttcctggatgcGcagtatcagaaggtccccgt	6	10	11	14	2	1	1	1	0	0	1	3	2	3	2	4	2	3	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78317077G>A	ENST00000582970.1	+	27	6278	c.6135G>A	c.(6133-6135)gcG>gcA	p.A2045A	RNF213_ENST00000508628.2_Silent_p.A2094A|RNF213_ENST00000336301.6_Silent_p.A118A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TCCTGGATGCGCAGTATCAGA	0.562													A	78317077	G	A	78317077	2	1	364	1	0	0	0	0	0	0	0	1	13568	1074	38	1		1	RNF213	17	78317077	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2954	78317077	2878133	12798	36300											
RNF213	57674	broad.mit.edu	37	chr17	78319744	78319744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgaggagatgatctgcCgtttggagtcagctggtttg	7	13	14	7	1	3	3	1	2	2	1	3	5	3	4	1	3	2	3	1	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78319744C>T	ENST00000582970.1	+	29	7752	c.7609C>T	c.(7609-7611)Cgt>Tgt	p.R2537C	RNF213_ENST00000508628.2_Missense_Mutation_p.R2586C|RNF213_ENST00000336301.6_Missense_Mutation_p.R610C	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GATGATCTGCCGTTTGGAGTC	0.562													T	78319744	C	T	78319744	3	4	364	1	0	0	0	0	1	0	0	0	13568	652	23	1	8038	1	RNF213	17	78319744	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2667	78319744	2875466	12799	36301											
RNF213	57674	broad.mit.edu	37	chr17	78321958	78321958	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggctgagcgcctactcgCtgggcgggttcgcagcggag	4	7	17	13	6	0	1	0	1	0	0	3	2	1	2	2	4	3	4	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78321958C>A	ENST00000582970.1	+	29	9966	c.9823C>A	c.(9823-9825)Ctg>Atg	p.L3275M	RNF213_ENST00000508628.2_Missense_Mutation_p.L3324M|RNF213_ENST00000336301.6_Missense_Mutation_p.L1348M	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGCCTACTCGCTGGGCGGGTT	0.597													A	78321958	C	A	78321958	3	1	364	1	0	0	0	0	1	0	0	0	13568	796	28	4	10252	4	RNF213	17	78321958	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2214	78321958	2873252	12800	36302											
RNF213	57674	broad.mit.edu	37	chr17	78327925	78327925	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaatatgcggagggtggTgctcctcctgggcctcttga	5	10	15	11	2	1	1	0	1	1	0	3	2	3	2	3	4	2	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78327925T>C	ENST00000582970.1	+	35	10828	c.10685T>C	c.(10684-10686)gTg>gCg	p.V3562A	CTD-2047H16.4_ENST00000575034.1_RNA|RNF213_ENST00000508628.2_Missense_Mutation_p.V3611A|RNF213_ENST00000336301.6_Missense_Mutation_p.V1635A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CGGAGGGTGGTGCTCCTCCTG	0.637													C	78327925	T	C	78327925	3	2	364	1	0	0	0	0	1	0	0	0	13568	1696	59	3	11138	3	RNF213	17	78327925	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5967	78327925	2867285	12801	36303											
NPTX1	4884	broad.mit.edu	37	chr17	78444684	78444684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatctcgatgtgggattcagCccaggcgatgacattgccgg	8	9	14	10	3	2	1	1	1	1	0	3	5	2	2	2	3	2	0	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78444684C>T	ENST00000306773.4	-	5	1385	c.1228G>A	c.(1228-1230)Gct>Act	p.A410T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	410	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			TGGGATTCAGCCCAGGCGATG	0.647													T	78444684	C	T	78444684	3	4	364	1	0	0	0	0	1	0	0	0	10678	739	26	2	74	2	NPTX1	17	78444684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	116759	78444684	2750526	12802	36304											
NPTX1	4884	broad.mit.edu	37	chr17	78445556	78445556	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggcccagcaccagcacGccctggggcttgatggggtg	5	7	15	14	1	0	1	0	1	0	0	1	1	1	1	4	5	2	3	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78445556G>A	ENST00000306773.4	-	4	1210	c.1053C>T	c.(1051-1053)ggC>ggT	p.G351G		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	351	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GCACCAGCACGCCCTGGGGCT	0.657													A	78445556	G	A	78445556	2	1	364	1	0	0	0	0	0	0	0	1	10678	1074	38	1		1	NPTX1	17	78445556	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	872	78445556	2749654	12803	36305											
RPTOR	57521	broad.mit.edu	37	chr17	78866640	78866640	+	Missense_Mutation	SNP	C	C	A																															agccaggagcctcaacaaatCtttgcagaacctgagtttga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866640C>A	ENST00000306801.3	+	19	2575	c.2213C>A	c.(2212-2214)tCt>tAt	p.S738Y	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.S580Y	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	738					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding	p.S738Y(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CTCAACAAATCTTTGCAGAAC	0.498													A	78866640	C	A	78866640	3	1	364	1	0	0	0	0	1	0	0	0	13756	913	32	4	2287	4	RPTOR	17	78866640	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	421084	78866640	2328570	12804	36306	105	2									
RPTOR	57521	broad.mit.edu	37	chr17	78866649	78866649	+	Missense_Mutation	SNP	A	A	G																															cctcaacaaatctttgcagaAcctgagtttgacagaggaat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78866649A>G	ENST00000306801.3	+	19	2584	c.2222A>G	c.(2221-2223)aAc>aGc	p.N741S	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.N583S	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	741					cell cycle arrest|cell growth|cellular response to amino acid stimulus|cellular response to nutrient levels|insulin receptor signaling pathway|positive regulation of protein serine/threonine kinase activity|positive regulation of TOR signaling cascade|TOR signaling cascade	cytosol|lysosome|TORC1 complex	protein complex binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCTTTGCAGAACCTGAGTTTG	0.498													G	78866649	A	G	78866649	3	3	364	1	0	0	0	0	1	0	0	0	13756	43	2	3	2296	3	RPTOR	17	78866649	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	9	78866649	2328561	12805	36307	105	2									
CHMP6	79643	broad.mit.edu	37	chr17	78971129	78971129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatcctggaggagctgagCgcaatcactcaggtaacggc	10	6	13	12	2	2	1	2	1	0	0	3	3	3	3	2	4	3	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:78971129C>T	ENST00000325167.5	+	6	561	c.483C>T	c.(481-483)agC>agT	p.S161S		NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	161					cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding			lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGAGCTGAGCGCAATCACTC	0.627													T	78971129	C	T	78971129	2	4	364	1	0	0	0	0	0	0	0	1	3390	767	27	1		1	CHMP6	17	78971129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104480	78971129	2224081	12806	36308											
BAIAP2	10458	broad.mit.edu	37	chr17	79077707	79077707	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcctgcttccctgcagCggatgtctgcccaggagagc	5	9	12	15	1	2	1	0	0	2	1	3	3	3	2	3	2	6	2	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79077707C>T	ENST00000321300.6	+	9	958	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	BAIAP2_ENST00000575245.1_Splice_Site_p.R322W|BAIAP2_ENST00000392411.3_Splice_Site_p.R211W|BAIAP2_ENST00000416299.2_Splice_Site_p.R152W|BAIAP2_ENST00000428708.2_Splice_Site_p.R289W|BAIAP2_ENST00000321280.7_Splice_Site_p.R289W|BAIAP2_ENST00000435091.3_Splice_Site_p.R289W|BAIAP2_ENST00000575712.1_Splice_Site_p.R289W	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	289					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			TTCCCTGCAGCGGATGTCTGC	0.677													T	79077707	C	T	79077707	5	4	364	1	0	0	0	0	0	0	1	0	1306	782	27	1	899	1	BAIAP2	17	79077707	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106578	79077707	2117503	12807	36309											
BAIAP2	10458	broad.mit.edu	37	chr17	79080582	79080582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagcacgggcaacctcCtggacaaggacgacctggcc	10	3	13	15	2	0	0	0	0	0	0	1	3	1	2	4	4	3	4	4	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79080582C>A	ENST00000321300.6	+	12	1468	c.1375C>A	c.(1375-1377)Ctg>Atg	p.L459M	BAIAP2_ENST00000575245.1_Missense_Mutation_p.L492M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.L381M|BAIAP2_ENST00000416299.2_Missense_Mutation_p.L322M|BAIAP2_ENST00000428708.2_Missense_Mutation_p.L459M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.L459M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.L459M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.L459M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	459					axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GGGCAACCTCCTGGACAAGGA	0.692													A	79080582	C	A	79080582	3	1	364	1	0	0	0	0	1	0	0	0	1306	680	24	4	1421	4	BAIAP2	17	79080582	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2875	79080582	2114628	12808	36310											
AATK	9625	broad.mit.edu	37	chr17	79093214	79093214	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtccgagtcagacacgtgCgtgatggagaagcgggacgt	9	6	17	9	6	1	3	1	1	0	2	2	6	2	4	1	2	2	0	1	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093214C>T	ENST00000326724.4	-	13	4074	c.4050G>A	c.(4048-4050)acG>acA	p.T1350T	AATK_ENST00000417379.1_Silent_p.T1247T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1350						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAGACACGTGCGTGATGGAGA	0.736													T	79093214	C	T	79093214	2	4	364	1	0	0	0	0	0	0	0	1	26	755	27	1		1	AATK	17	79093214	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12632	79093214	2101996	12809	36311											
AATK	9625	broad.mit.edu	37	chr17	79093232	79093232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtgatggagaagcgggaCgtgggcgcgggcgacaccgt	7	5	20	9	7	0	2	0	1	0	1	0	5	0	3	1	4	2	0	1	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79093232C>T	ENST00000326724.4	-	13	4056	c.4032G>A	c.(4030-4032)acG>acA	p.T1344T	AATK_ENST00000417379.1_Silent_p.T1241T	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1344						integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGAAGCGGGACGTGGGCGCGG	0.736													T	79093232	C	T	79093232	2	4	364	1	0	0	0	0	0	0	0	1	26	523	19	1		1	AATK	17	79093232	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	79093232	2101978	12810	36312											
AZI1	22994	broad.mit.edu	37	chr17	79165000	79165000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgggtccttaccggctctCggcagccttctcactctcct	3	11	10	17	3	3	0	1	0	3	0	7	0	4	0	4	4	2	2	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79165000C>T	ENST00000269392.4	-	22	3014	c.2767G>A	c.(2767-2769)Gag>Aag	p.E923K	AZI1_ENST00000374782.3_Missense_Mutation_p.E884K|AZI1_ENST00000575907.1_Missense_Mutation_p.E887K|AZI1_ENST00000450824.2_Missense_Mutation_p.E920K	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	923					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		p.E920K(1)|p.E884K(1)		breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TACCGGCTCTCGGCAGCCTTC	0.652													T	79165000	C	T	79165000	3	4	364	1	0	0	0	0	1	0	0	0	1245	893	31	1	504	1	AZI1	17	79165000	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71768	79165000	2030210	12811	36313											
AZI1	22994	broad.mit.edu	37	chr17	79166385	79166385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagctcttccagctccGcccgctgcctgcggccaggg	3	7	12	19	3	2	0	1	0	1	0	4	0	4	0	6	2	4	3	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79166385G>A	ENST00000269392.4	-	20	2694	c.2447C>T	c.(2446-2448)gCg>gTg	p.A816V	AZI1_ENST00000374782.3_Missense_Mutation_p.A777V|AZI1_ENST00000575907.1_Missense_Mutation_p.A780V|AZI1_ENST00000450824.2_Missense_Mutation_p.A813V	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	816					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTCCAGCTCCGCCCGCTGCCT	0.682													A	79166385	G	A	79166385	3	1	364	1	0	0	0	0	1	0	0	0	1245	1087	38	1	832	1	AZI1	17	79166385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1385	79166385	2028825	12812	36314											
AZI1	22994	broad.mit.edu	37	chr17	79170554	79170554	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgtagtgctccctctGccgctgcagctgccggctca	3	9	12	17	3	2	0	1	0	1	0	4	0	3	0	4	2	5	6	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79170554G>A	ENST00000269392.4	-	15	2102	c.1855C>T	c.(1855-1857)Cag>Tag	p.Q619*	AZI1_ENST00000450824.2_Nonsense_Mutation_p.Q616*|AZI1_ENST00000575907.1_Nonsense_Mutation_p.Q619*|AZI1_ENST00000374782.3_Nonsense_Mutation_p.Q616*	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	5-azacytidine induced 1	619					cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TGCTCCCTCTGCCGCTGCAGC	0.701													A	79170554	G	A	79170554	4	1	364	1	0	0	0	0	0	1	0	0	1245	1328	46	2	1444	2	AZI1	17	79170554	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4169	79170554	2024656	12813	36315											
FSCN2	25794	broad.mit.edu	37	chr17	79496251	79496251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggccactacctggcacccGtggggcccgcaggcaccctc	6	4	12	19	3	0	0	0	0	0	0	1	0	0	0	5	5	1	3	5	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79496251G>A	ENST00000417245.2	+	1	830	c.694G>A	c.(694-696)Gtg>Atg	p.V232M	FSCN2_ENST00000334850.7_Missense_Mutation_p.V232M	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)	232					actin filament bundle assembly|anatomical structure morphogenesis|visual perception	actin cytoskeleton|cytoplasm|stereocilium	actin filament binding|protein binding, bridging			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			CCTGGCACCCGTGGGGCCCGC	0.662													A	79496251	G	A	79496251	3	1	364	1	0	0	0	0	1	0	0	0	6120	1145	40	1	696	1	FSCN2	17	79496251	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325697	79496251	1698959	12814	36316											
C17orf70	80233	broad.mit.edu	37	chr17	79517694	79517694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgggctcctccaggtgatGgaggatcttgacaagggcat	9	8	15	9	1	1	2	0	2	1	0	3	5	3	4	2	5	0	2	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79517694G>T	ENST00000537152.1	-	3	898	c.373C>A	c.(373-375)Cat>Aat	p.H125N	C17orf70_ENST00000327787.8_Missense_Mutation_p.H276N	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	276					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCCAGGTGATGGAGGATCTTG	0.577													T	79517694	G	T	79517694	3	4	364	1	0	0	0	0	1	0	0	0	1893	1348	47	4	1847	4	C17orf70	17	79517694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21443	79517694	1677516	12815	36317											
TSPAN10	83882	broad.mit.edu	37	chr17	79612540	79612540	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcctggagcacaccctgCgtgtggccatcgcccactac	8	6	10	17	2	0	0	0	0	0	0	1	1	0	1	4	2	4	1	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79612540C>T	ENST00000328585.4	+	0	649				TSPAN10_ENST00000572675.1_RNA	NM_031945.3	NP_114151.3	Q9H1Z9	TSN10_HUMAN	tetraspanin 10							integral to membrane				ovary(1)	1	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCACACCCTGCGTGTGGCCAT	0.687													T	79612540	C	T	79612540	1	4	364	0	1	0	0	0	0	0	0	0	16735	768	27	1		1	TSPAN10	17	79612540	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94846	79612540	1582670	12816	36318											
CCDC137	339230	broad.mit.edu	37	chr17	79638824	79638824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaaaaaggaggaaaaggCggcagacaggctggagcagg	16	1	18	6	2	0	1	0	0	0	1	0	5	0	5	0	8	1	3	0	8	4	0	rs79563828	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79638824C>T	ENST00000329214.8	+	4	951	c.548C>T	c.(547-549)gCg>gTg	p.A183V		NM_199287.2	NP_954981.1	Q6PK04	CC137_HUMAN	coiled-coil domain containing 137	183										NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(2)	12	all_neural(118;0.0878)|all_lung(278;0.23)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GAGGAAAAGGCGGCAGACAGG	0.567													T	79638824	C	T	79638824	3	4	364	1	0	0	0	0	1	0	0	0	2797	768	27	1	562	1	CCDC137	17	79638824	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26284	79638824	1556386	12817	36319											
HGS	9146	broad.mit.edu	37	chr17	79654062	79654062	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgtggtaaagaactgtggCcagacagttcatgatgaggt	11	11	13	6	0	2	4	1	2	1	2	2	4	2	4	1	3	1	2	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79654062C>T	ENST00000329138.4	+	4	363	c.228C>T	c.(226-228)ggC>ggT	p.G76G		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	76	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACTGTGGCCAGACAGTTC	0.622													T	79654062	C	T	79654062	2	4	364	1	0	0	0	0	0	0	0	1	7142	726	26	2		2	HGS	17	79654062	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15238	79654062	1541148	12818	36320											
HGS	9146	broad.mit.edu	37	chr17	79667739	79667739	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagaacgtggcctcccaGgccccacagagcctcccggc	7	3	11	20	3	0	2	0	0	0	2	2	2	2	2	7	3	2	1	7	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79667739G>T	ENST00000329138.4	+	20	2166	c.2031G>T	c.(2029-2031)caG>caT	p.Q677H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	677	Gln-rich.|Interaction with NF2.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			TGGCCTCCCAGGCCCCACAGA	0.667													T	79667739	G	T	79667739	3	4	364	1	0	0	0	0	1	0	0	0	7142	991	35	4	2109	4	HGS	17	79667739	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13677	79667739	1527471	12819	36321											
P4HB	5034	broad.mit.edu	37	chr17	79803050	79803050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgccccatcctggccaccGctctccaggaatttcttaaa	8	10	6	17	1	2	0	0	0	2	0	4	1	3	1	7	2	1	1	7	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79803050G>A	ENST00000331483.4	-	10	1638	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	P4HB_ENST00000576390.1_Intron|P4HB_ENST00000439918.2_Silent_p.S428S	NM_000918.3	NP_000909.2	P07237	PDIA1_HUMAN	prolyl 4-hydroxylase, beta polypeptide	472	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|lipid metabolic process|lipoprotein metabolic process|peptidyl-proline hydroxylation to 4-hydroxy-L-proline	cell surface|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|extracellular region|melanosome|plasma membrane	electron carrier activity|procollagen-proline 4-dioxygenase activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			NS(1)|breast(1)|large_intestine(2)|lung(17)|urinary_tract(1)	22	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0509)			CCTGGCCACCGCTCTCCAGGA	0.607													A	79803050	G	A	79803050	2	1	364	1	0	0	0	0	0	0	0	1	11435	1078	38	1		1	P4HB	17	79803050	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135311	79803050	1392160	12820	36322											
SIRT7	51547	broad.mit.edu	37	chr17	79872022	79872022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcttggtcatgcaccagaGgcgtgggtacttctttagaa	8	11	14	8	1	2	2	1	0	1	2	2	2	2	2	1	4	2	3	1	4	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79872022G>T	ENST00000328666.6	-	8	900	c.838C>A	c.(838-840)Ctc>Atc	p.L280I		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	280	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ATGCACCAGAGGCGTGGGTAC	0.582													T	79872022	G	T	79872022	3	4	364	1	0	0	0	0	1	0	0	0	14437	1000	35	4	376	4	SIRT7	17	79872022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68972	79872022	1323188	12821	36323											
NOTUM	147111	broad.mit.edu	37	chr17	79916837	79916837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgcgttccaccagtagggGttctcctccggctgtgagga	5	12	13	11	2	1	1	0	1	1	0	4	2	3	2	4	4	1	4	4	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79916837G>A	ENST00000409678.3	-	4	890	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	169						extracellular region	hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			ACCAGTAGGGGTTCTCCTCCG	0.632													A	79916837	G	A	79916837	2	1	364	1	0	0	0	0	0	0	0	1	10628	1252	44	2		2	NOTUM	17	79916837	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44815	79916837	1278373	12822	36324											
ASPSCR1	79058	broad.mit.edu	37	chr17	79970085	79970085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacggtgcttcctaacaCgtaggtgccttctctcctca	6	12	8	15	2	2	0	1	0	1	0	6	0	5	0	4	2	3	2	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79970085C>T	ENST00000580534.1	+	11	1311	c.1123C>T	c.(1123-1125)Cgt>Tgt	p.R375C	ASPSCR1_ENST00000306729.7_Intron|ASPSCR1_ENST00000306739.4_Intron			Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	433	Interaction with GLUT4 (By similarity).						protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTTCCTAACACGTAGGTGCCT	0.617			T	TFE3	alveolar soft part sarcoma								T	79970085	C	T	79970085	3	4	364	1	0	0	0	0	1	0	0	0	1064	551	19	1		1	ASPSCR1	17	79970085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53248	79970085	1225125	12823	36325											
LRRC45	201255	broad.mit.edu	37	chr17	79983272	79983272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacctgcgctggaataacGttggcctcctggggggccgg	6	7	16	12	3	0	1	0	0	0	1	1	2	1	2	4	6	2	2	4	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:79983272G>A	ENST00000306688.3	+	5	892	c.550G>A	c.(550-552)Gtt>Att	p.V184I	LRRC45_ENST00000583383.1_3'UTR	NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	184						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			CTGGAATAACGTTGGCCTCCT	0.627													A	79983272	G	A	79983272	3	1	364	1	0	0	0	0	1	0	0	0	9072	1145	40	1	568	1	LRRC45	17	79983272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13187	79983272	1211938	12824	36326											
DUS1L	64118	broad.mit.edu	37	chr17	80022791	80022791	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaagacctgggcatgcaGcatgggcgtgtagcagagct	11	6	15	9	1	0	2	0	0	0	2	0	3	0	2	1	2	4	6	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80022791G>T	ENST00000354321.7	-	1	630	c.145C>A	c.(145-147)Ctg>Atg	p.L49M	DUS1L_ENST00000306796.5_Missense_Mutation_p.L49M			Q6P1R4	DUS1L_HUMAN	dihydrouridine synthase 1-like (S. cerevisiae)	49					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	6	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			TGGGCATGCAGCATGGGCGTG	0.692													T	80022791	G	T	80022791	3	4	364	1	0	0	0	0	1	0	0	0	4844	962	34	4	1328	4	DUS1L	17	80022791	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39519	80022791	1172419	12825	36327											
FASN	2194	broad.mit.edu	37	chr17	80039944	80039944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatggcggaattggcaaagCcgtagttgctctgtcccgca	8	9	12	12	3	1	0	0	0	1	0	2	1	2	1	3	3	2	5	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80039944C>T	ENST00000306749.2	-	36	6322	c.6104G>A	c.(6103-6105)gGc>gAc	p.G2035D	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	2035	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	ATTGGCAAAGCCGTAGTTGCT	0.652													T	80039944	C	T	80039944	3	4	364	1	0	0	0	0	1	0	0	0	5732	739	26	2	1463	2	FASN	17	80039944	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17153	80039944	1155266	12826	36328											
FASN	2194	broad.mit.edu	37	chr17	80045217	80045217	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaccttgggccttgtcctgCagtgtgtacagcttctgcct	4	14	10	13	0	1	0	0	0	1	0	2	0	2	0	4	1	5	3	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045217C>T	ENST00000306749.2	-	20	3425	c.3207G>A	c.(3205-3207)ctG>ctA	p.L1069L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1069					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	CCTTGTCCTGCAGTGTGTACA	0.667													T	80045217	C	T	80045217	2	4	364	1	0	0	0	0	0	0	0	1	5732	697	25	2		2	FASN	17	80045217	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5273	80045217	1149993	12827	36329											
FASN	2194	broad.mit.edu	37	chr17	80045228	80045228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtcctgcagtgtgtacaGcttctgcctgtgggtggcag	4	13	14	10	0	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80045228G>A	ENST00000306749.2	-	20	3414	c.3196C>T	c.(3196-3198)Ctg>Ttg	p.L1066L		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1066					energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	AGTGTGTACAGCTTCTGCCTG	0.662													A	80045228	G	A	80045228	2	1	364	1	0	0	0	0	0	0	0	1	5732	962	34	2		2	FASN	17	80045228	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11	80045228	1149982	12828	36330											
FASN	2194	broad.mit.edu	37	chr17	80053284	80053284	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcttggggtggactccgaaGaaggaggcatcaaacctaga	12	7	14	8	1	1	2	1	0	0	2	2	5	2	4	2	5	2	2	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80053284G>A	ENST00000306749.2	-	3	410	c.192C>T	c.(190-192)ttC>ttT	p.F64F		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	64	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GGACTCCGAAGAAGGAGGCAT	0.617													A	80053284	G	A	80053284	2	1	364	1	0	0	0	0	0	0	0	1	5732	933	33	2		2	FASN	17	80053284	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8056	80053284	1141926	12829	36331											
CCDC57	284001	broad.mit.edu	37	chr17	80136450	80136450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctcctgctcctgtagcGcctgctctgtctcctgcagc	3	11	8	19	1	2	0	0	0	2	0	5	0	4	0	6	0	5	4	6	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80136450G>A	ENST00000389641.4	-	10	1442	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	CCDC57_ENST00000327026.3_5'UTR|CCDC57_ENST00000392343.3_Missense_Mutation_p.A469V|CCDC57_ENST00000392347.1_Missense_Mutation_p.A469V			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	469										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTCCTGTAGCGCCTGCTCTGT	0.647													A	80136450	G	A	80136450	3	1	364	1	0	0	0	0	1	0	0	0	2855	1087	38	1	1373	1	CCDC57	17	80136450	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83166	80136450	1058760	12830	36332											
CSNK1D	1453	broad.mit.edu	37	chr17	80211027	80211027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgatgatgtacaccaGgttgcccttcttccccaggc	8	10	10	13	1	1	1	0	1	1	0	3	3	2	1	4	2	2	2	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80211027G>T	ENST00000314028.6	-	4	779	c.430C>A	c.(430-432)Ctg>Atg	p.L144M	CSNK1D_ENST00000398519.5_Missense_Mutation_p.L144M|CSNK1D_ENST00000578904.1_5'UTR|CSNK1D_ENST00000392334.2_Missense_Mutation_p.L144M	NM_001893.4	NP_001884.2	P48730	KC1D_HUMAN	casein kinase 1, delta	144	Protein kinase.				circadian regulation of gene expression|DNA repair|G2/M transition of mitotic cell cycle|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|regulation of circadian rhythm|Wnt receptor signaling pathway	centrosome|cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|large_intestine(2)|lung(7)	11	Breast(20;0.00136)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0155)			ATGTACACCAGGTTGCCCTTC	0.547													T	80211027	G	T	80211027	3	4	364	1	0	0	0	0	1	0	0	0	3985	991	35	4	878	4	CSNK1D	17	80211027	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74577	80211027	984183	12831	36333											
CD7	924	broad.mit.edu	37	chr17	80274543	80274543	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgggcacattccctacCtgtcaccaggaccagggtgc	8	7	13	13	0	1	0	1	0	0	0	2	2	2	2	4	4	2	1	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80274543C>A	ENST00000584284.1	-	2	478	c.397G>T	c.(397-399)Gag>Tag	p.E133*	CD7_ENST00000578509.1_Splice_Site_p.E33*|CD7_ENST00000583376.1_Splice_Site_p.E33*|CD7_ENST00000312648.3_Splice_Site_p.E133*			P09564	CD7_HUMAN	CD7 molecule	133					immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|membrane fraction|plasma membrane	receptor activity			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			CATTCCCTACCTGTCACCAGG	0.657													A	80274543	C	A	80274543	5	1	364	1	0	0	0	0	0	0	1	0	3062	695	24	4	337	4	CD7	17	80274543	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63516	80274543	920667	12832	36334											
FOXK2	3607	broad.mit.edu	37	chr17	80559225	80559225	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaacacacgcatccgcatcGgcctccctgcccacaaagcg	10	4	8	19	4	0	0	0	0	0	0	3	0	2	0	4	1	3	3	4	1	2	0	rs151062508		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80559225G>A	ENST00000335255.5	+	9	2007	c.1833G>A	c.(1831-1833)tcG>tcA	p.S611S	FOXK2_ENST00000529652.1_3'UTR	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	611					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			CATCCGCATCGGCCTCCCTGC	0.622													A	80559225	G	A	80559225	2	1	364	1	0	0	0	0	0	0	0	1	6066	1103	39	1		1	FOXK2	17	80559225	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284682	80559225	635985	12833	36335											
FN3KRP	79672	broad.mit.edu	37	chr17	80684939	80684939	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaaggccccaggattcgaGaagcgccttcagttgtatca	10	8	10	13	2	2	1	2	0	0	1	3	3	2	2	4	2	1	2	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80684939G>A	ENST00000269373.6	+	6	895	c.822G>A	c.(820-822)gaG>gaA	p.E274E	FN3KRP_ENST00000535965.1_Silent_p.E224E	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	274							kinase activity			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			CAGGATTCGAGAAGCGCCTTC	0.507													A	80684939	G	A	80684939	2	1	364	1	0	0	0	0	0	0	0	1	6013	933	33	2		2	FN3KRP	17	80684939	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125714	80684939	510271	12834	36336											
TBCD	6904	broad.mit.edu	37	chr17	80739561	80739561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttccagaccatgcaGggggtcatcaccatggatgg	8	9	11	13	0	2	1	2	0	0	1	5	2	5	2	5	4	1	1	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80739561G>T	ENST00000355528.4	+	7	865	c.735G>T	c.(733-735)caG>caT	p.Q245H	TBCD_ENST00000539345.2_Missense_Mutation_p.Q245H|TBCD_ENST00000397466.2_5'UTR	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	245					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			AGACCATGCAGGGGGTCATCA	0.592											OREG0024827	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	80739561	G	T	80739561	3	4	364	1	0	0	0	0	1	0	0	0	15733	991	35	4	761	4	TBCD	17	80739561	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54622	80739561	455649	12835	36337											
ZNF750	79755	broad.mit.edu	37	chr17	80788324	80788324	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcgctgctgtccaccgcGcatgcgtctggagcctcctc	3	10	10	18	4	1	0	0	0	1	0	6	1	4	1	5	1	3	3	5	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788324G>A	ENST00000269394.3	-	3	2699	c.1866C>T	c.(1864-1866)tgC>tgT	p.C622C	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Silent_p.C223C|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	622						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TGTCCACCGCGCATGCGTCTG	0.706													A	80788324	G	A	80788324	2	1	364	1	0	0	0	0	0	0	0	1	18232	1079	38	1		1	ZNF750	17	80788324	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48763	80788324	406886	12836	36338											
ZNF750	79755	broad.mit.edu	37	chr17	80788577	80788577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagctggcggtttccGcctgggggctgccttggtac	4	10	16	11	2	0	1	0	1	0	1	1	2	1	1	3	5	3	4	3	5	2	3	rs142714888		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80788577G>A	ENST00000269394.3	-	3	2446	c.1613C>T	c.(1612-1614)gCg>gTg	p.A538V	TBCD_ENST00000539345.2_Intron|TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Missense_Mutation_p.A139V|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	538						intracellular	zinc ion binding			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GGCGGTTTCCGCCTGGGGGCT	0.627													A	80788577	G	A	80788577	3	1	364	1	0	0	0	0	1	0	0	0	18232	1087	38	1	562	1	ZNF750	17	80788577	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253	80788577	406633	12837	36339											
TBCD	6904	broad.mit.edu	37	chr17	80885151	80885151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatttactgtgcgctgctggGctgcatggacgactacacca	8	10	12	11	2	0	0	0	0	0	0	0	3	0	1	1	2	5	4	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:80885151G>A	ENST00000355528.4	+	29	2691	c.2561G>A	c.(2560-2562)gGc>gAc	p.G854D	TBCD_ENST00000539345.2_Missense_Mutation_p.G854D	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	854					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			GCGCTGCTGGGCTGCATGGAC	0.547													A	80885151	G	A	80885151	3	1	364	1	0	0	0	0	1	0	0	0	15733	1203	42	2	2675	2	TBCD	17	80885151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	96574	80885151	310059	12838	36340											
METRNL	284207	broad.mit.edu	37	chr17	81043069	81043069	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggcccggccgggtgcaGtgttttggcctggagcaggg	4	7	20	10	2	0	0	0	0	0	0	0	1	0	1	3	7	2	4	3	7	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr17:81043069G>T	ENST00000571814.1	+	1	1121	c.180G>T	c.(178-180)caG>caT	p.Q60H	METRNL_ENST00000320095.7_Missense_Mutation_p.Q142H|METRNL_ENST00000570778.1_Missense_Mutation_p.Q60H			Q641Q3	METRL_HUMAN	meteorin, glial cell differentiation regulator-like	142						extracellular region				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)		BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			GCCGGGTGCAGTGTTTTGGCC	0.622													T	81043069	G	T	81043069	3	4	364	1	0	0	0	0	1	0	0	0	9564	1020	36	4	432	4	METRNL	17	81043069	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157918	81043069	152141	12839	36341											
USP14	9097	broad.mit.edu	37	chr18	197620	197620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttttacattacaggatgCtaatgaatgttggatacaaa	14	16	7	4	0	0	1	0	1	0	0	0	3	0	3	0	2	4	2	0	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:197620C>T	ENST00000261601.7	+	8	690	c.599C>T	c.(598-600)gCt>gTt	p.A200V	USP14_ENST00000383589.2_Missense_Mutation_p.A154V|USP14_ENST00000582707.1_Missense_Mutation_p.A165V|USP14_ENST00000400266.3_Missense_Mutation_p.A189V	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TTACAGGATGCTAATGAATGT	0.333													T	197620	C	T	197620	3	4	364	1	0	0	0	0	1	0	0	0	17147	797	28	2	629	2	USP14	18	197620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		197620	77879628	12840	36342											
THOC1	9984	broad.mit.edu	37	chr18	265475	265475	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccaggtacctggctgAaggtacttaacaatggcttg	10	10	11	10	0	0	1	0	1	0	0	0	1	0	1	3	4	4	4	3	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:265475A>C	ENST00000261600.6	-	2	117	c.110T>G	c.(109-111)tTc>tGc	p.F37C	THOC1_ENST00000582313.1_5'UTR	NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	37					apoptosis|intronless viral mRNA export from host nucleus|mRNA processing|regulation of transcription elongation, DNA-dependent|RNA splicing|signal transduction|transcription, DNA-dependent	cytoplasm|nuclear matrix|nuclear speck|THO complex part of transcription export complex	DNA binding|protein binding|RNA binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TACCTGGCTGAAGGTACTTAA	0.343													C	265475	A	C	265475	3	2	364	1	0	0	0	0	1	0	0	0	15964	246	9	5	1943	5	THOC1	18	265475	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	67855	265475	77811773	12841	36343											
C18orf56	494514	broad.mit.edu	37	chr18	658106	658106	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcgccttacagacgccgaAacggagggtcccattaggga	10	6	12	13	4	0	1	0	0	0	1	2	4	1	3	4	3	2	0	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:658106A>G	ENST00000323813.3	-	1	234	c.142T>C	c.(142-144)Ttc>Ctc	p.F48L	TYMS_ENST00000323224.7_Intron|C18orf56_ENST00000585033.1_Missense_Mutation_p.F48L|TYMS_ENST00000323250.5_Intron|TYMS_ENST00000323274.10_Intron	NM_001012716.2	NP_001012734.2	Q8TAI1	CR056_HUMAN	chromosome 18 open reading frame 56	48							protein binding										CAGACGCCGAAACGGAGGGTC	0.692													G	658106	A	G	658106	3	3	364	1	0	0	0	0	1	0	0	0	1924	14	1	3	233	3	C18orf56	18	658106	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	392631	658106	77419142	12842	36344											
ENOSF1	55556	broad.mit.edu	37	chr18	678709	678709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactcacctgttctcctgtgGcaatgccaattcctaatggg	8	12	8	13	0	2	0	1	0	1	0	4	0	3	0	4	2	1	2	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:678709G>A	ENST00000319815.6	-	4	1479	c.215C>T	c.(214-216)gCc>gTc	p.A72V	ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.A220V|ENOSF1_ENST00000251101.7_Missense_Mutation_p.A302V|ENOSF1_ENST00000340116.7_Intron|ENOSF1_ENST00000580982.1_Missense_Mutation_p.A226V			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	302					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TTCTCCTGTGGCAATGCCAAT	0.483													A	678709	G	A	678709	3	1	364	1	0	0	0	0	1	0	0	0	5166	1203	42	2	446	2	ENOSF1	18	678709	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20603	678709	77398539	12843	36345											
ENOSF1	55556	broad.mit.edu	37	chr18	685955	685955	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaatcatgtctcggatgAtttggcatcttcgcatgtca	8	14	9	10	2	4	1	2	1	2	0	7	2	5	2	1	2	0	2	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:685955A>T	ENST00000319815.6	-	2	1281	c.17T>A	c.(16-18)aTc>aAc	p.I6N	ENOSF1_ENST00000583973.1_5'UTR|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I154N|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I236N|ENOSF1_ENST00000340116.7_Missense_Mutation_p.I257N|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I160N			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	236					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GTCTCGGATGATTTGGCATCT	0.433													T	685955	A	T	685955	3	4	364	1	0	0	0	0	1	0	0	0	5166	333	12	5	652	5	ENOSF1	18	685955	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7246	685955	77391293	12844	36346											
ENOSF1	55556	broad.mit.edu	37	chr18	691249	691249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgatgtacctgaaatCtatgcaggataccagcatcc	13	10	8	10	0	2	2	1	2	1	0	3	3	3	3	3	1	4	3	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691249C>A	ENST00000383578.3	-	5	409	c.205G>T	c.(205-207)Gat>Tat	p.D69Y	ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000251101.7_Missense_Mutation_p.D151Y|ENOSF1_ENST00000340116.7_Missense_Mutation_p.D172Y|ENOSF1_ENST00000580982.1_Intron	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	151					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						TACCTGAAATCTATGCAGGAT	0.458													A	691249	C	A	691249	3	1	364	1	0	0	0	0	1	0	0	0	5166	913	32	4	924	4	ENOSF1	18	691249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5294	691249	77385999	12845	36347											
ENOSF1	55556	broad.mit.edu	37	chr18	691268	691268	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tctatgcaggataccagcatCctgggatcctggcaacgtga	10	9	11	11	1	1	1	0	1	1	0	3	3	3	3	3	3	4	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:691268C>T	ENST00000383578.3	-	5	390	c.186G>A	c.(184-186)agG>agA	p.R62R	ENOSF1_ENST00000539164.1_3'UTR|ENOSF1_ENST00000251101.7_Silent_p.R144R|ENOSF1_ENST00000340116.7_Silent_p.R165R|ENOSF1_ENST00000580982.1_Intron	NM_001126123.3	NP_001119595.1	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	144					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						ATACCAGCATCCTGGGATCCT	0.428													T	691268	C	T	691268	2	4	364	1	0	0	0	0	0	0	0	1	5166	854	30	2		2	ENOSF1	18	691268	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	691268	77385980	12846	36348											
YES1	7525	broad.mit.edu	37	chr18	743026	743026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattatctgagcttcttgaaGgaaagcttctggcatcattg	10	14	9	8	0	4	2	1	2	3	0	4	3	4	3	0	2	2	3	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:743026G>T	ENST00000584307.1	-	8	1122	c.952C>A	c.(952-954)Ctt>Att	p.L318I	YES1_ENST00000577961.1_Missense_Mutation_p.L323I|YES1_ENST00000314574.4_Missense_Mutation_p.L318I			P07947	YES_HUMAN	v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1	318	Protein kinase.				blood coagulation|leukocyte migration|regulation of vascular permeability|T cell costimulation	cytosol|plasma membrane	ATP binding|ion channel binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	GCTTCTTGAAGGAAAGCTTCT	0.323													T	743026	G	T	743026	3	4	364	1	0	0	0	0	1	0	0	0	17576	1000	35	4	699	4	YES1	18	743026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51758	743026	77334222	12847	36349											
NDC80	10403	broad.mit.edu	37	chr18	2578944	2578944	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtatccttttgcactatcCaaaagctccatgtacacagt	12	12	6	11	0	0	0	0	0	0	0	3	0	3	0	3	1	3	4	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2578944C>T	ENST00000261597.4	+	6	677	c.495C>T	c.(493-495)tcC>tcT	p.S165S		NM_006101.2	NP_006092.1	O14777	NDC80_HUMAN	NDC80 kinetochore complex component	165	Interaction with RB1.|Interaction with the N-terminus of CDCA1.|Nuclear localization.				attachment of spindle microtubules to kinetochore|cell division|establishment of mitotic spindle orientation|mitotic prometaphase|mitotic sister chromatid segregation|mitotic spindle organization|phosphatidylinositol-mediated signaling	condensed nuclear chromosome outer kinetochore|cytosol|Ndc80 complex	protein binding			NS(1)|biliary_tract(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)|urinary_tract(2)	22						TTGCACTATCCAAAAGCTCCA	0.348													T	2578944	C	T	2578944	2	4	364	1	0	0	0	0	0	0	0	1	10318	581	21	2		2	NDC80	18	2578944	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1835918	2578944	75498304	12848	36350											
SMCHD1	23347	broad.mit.edu	37	chr18	2666211	2666211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaacaacaagtaggaaagAaattacctgtgataattttg	18	11	7	5	0	0	2	0	1	0	1	0	3	0	3	1	1	4	1	1	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2666211A>G	ENST00000320876.6	+	2	580	c.242A>G	c.(241-243)gAa>gGa	p.E81G	SMCHD1_ENST00000261598.8_Missense_Mutation_p.E81G	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	81					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AGTAGGAAAGAAATTACCTGT	0.259													G	2666211	A	G	2666211	3	3	364	1	0	0	0	0	1	0	0	0	14882	246	9	3	248	3	SMCHD1	18	2666211	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	87267	2666211	75411037	12849	36351											
SMCHD1	23347	broad.mit.edu	37	chr18	2738483	2738483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacatctgtaaaagatatgcGctattgccaggtttcattcc	12	13	7	9	1	2	1	1	0	1	1	3	1	3	1	2	1	3	3	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2738483G>A	ENST00000320876.6	+	26	3703	c.3365G>A	c.(3364-3366)cGc>cAc	p.R1122H	SMCHD1_ENST00000261598.8_Missense_Mutation_p.R1122H|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1122					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						AAAGATATGCGCTATTGCCAG	0.398													A	2738483	G	A	2738483	3	1	364	1	0	0	0	0	1	0	0	0	14882	1087	38	1	3467	1	SMCHD1	18	2738483	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72272	2738483	75338765	12850	36352											
SMCHD1	23347	broad.mit.edu	37	chr18	2762115	2762115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtaaggttatagttgaaGtcctgcctaatcaacctgtg	10	15	9	7	0	1	1	1	1	0	0	2	1	2	1	3	1	2	3	3	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2762115G>A	ENST00000320876.6	+	36	4785	c.4447G>A	c.(4447-4449)Gtc>Atc	p.V1483I	SMCHD1_ENST00000261598.8_Missense_Mutation_p.V1483I|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1483					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						TATAGTTGAAGTCCTGCCTAA	0.378													A	2762115	G	A	2762115	3	1	364	1	0	0	0	0	1	0	0	0	14882	1029	36	2	4589	2	SMCHD1	18	2762115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23632	2762115	75315133	12851	36353											
EMILIN2	84034	broad.mit.edu	37	chr18	2885065	2885065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggggagattgccaagaaGgtcccaaagaccccgtgaag	13	4	15	9	1	0	4	0	1	0	3	1	6	1	4	4	3	1	0	4	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2885065G>T	ENST00000254528.3	+	3	520	c.361G>T	c.(361-363)Ggt>Tgt	p.G121C		NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	121					cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TTGCCAAGAAGGTCCCAAAGA	0.502													T	2885065	G	T	2885065	3	4	364	1	0	0	0	0	1	0	0	0	5135	1000	35	4	371	4	EMILIN2	18	2885065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122950	2885065	75192183	12852	36354											
LPIN2	9663	broad.mit.edu	37	chr18	2920358	2920358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaggagctgaactccGggcagggaaaagcggaattc	14	4	15	8	2	0	2	0	1	0	1	2	5	1	5	1	4	4	3	1	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2920358G>A	ENST00000261596.4	-	20	2862	c.2624C>T	c.(2623-2625)cCg>cTg	p.P875L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	875					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		GCTGAACTCCGGGCAGGGAAA	0.577													A	2920358	G	A	2920358	3	1	364	1	0	0	0	0	1	0	0	0	8989	1116	39	1	70	1	LPIN2	18	2920358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35293	2920358	75156890	12853	36355											
LPIN2	9663	broad.mit.edu	37	chr18	2921602	2921602	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagattcttgatatcatttaGacactcaattttgaacttct	12	17	4	8	0	4	4	2	2	2	2	4	4	4	4	0	0	1	0	0	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2921602G>A	ENST00000261596.4	-	18	2609	c.2371C>T	c.(2371-2373)Cta>Tta	p.L791L	RP11-737O24.5_ENST00000608032.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	791	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		ATATCATTTAGACACTCAATT	0.403													A	2921602	G	A	2921602	2	1	364	1	0	0	0	0	0	0	0	1	8989	933	33	2		2	LPIN2	18	2921602	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1244	2921602	75155646	12854	36356											
LPIN2	9663	broad.mit.edu	37	chr18	2940711	2940711	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcatttgaagatcctCtgtgaaggagaaaccaaaga	17	7	11	6	0	1	5	0	2	1	3	2	7	2	6	2	2	2	1	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:2940711C>A	ENST00000261596.4	-	5	829		c.e5-1			NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2						fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		TGAAGATCCTCTGTGAAGGAG	0.408													A	2940711	C	A	2940711	5	1	364	1	0	0	0	0	0	0	1	0	8989	927	32	4	2164	4	LPIN2	18	2940711	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19109	2940711	75136537	12855	36357											
MYOM1	8736	broad.mit.edu	37	chr18	3151731	3151731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccggatccagagcagccaCgggctcggaaactcgagatg	11	4	14	12	4	0	2	0	0	0	2	3	5	1	4	3	3	4	2	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3151731C>T	ENST00000356443.4	-	12	2137	c.1804G>A	c.(1804-1806)Gtg>Atg	p.V602M	MYOM1_ENST00000261606.7_Missense_Mutation_p.V602M|MYOM1_ENST00000400569.3_Missense_Mutation_p.V602M	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	602	Fibronectin type-III 1.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGAGCAGCCACGGGCTCGGAA	0.433											OREG0024839	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	3151731	C	T	3151731	3	4	364	1	0	0	0	0	1	0	0	0	10167	536	19	1	3361	1	MYOM1	18	3151731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211020	3151731	74925517	12856	36358											
MYL12B	103910	broad.mit.edu	37	chr18	3277898	3277898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattacatcgagttcacacGcatcctgaaacatggagcca	14	8	7	12	2	1	1	1	1	0	0	3	3	2	2	2	1	3	2	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3277898G>A	ENST00000581193.1	+	4	865	c.482G>A	c.(481-483)cGc>cAc	p.R161H	MYL12B_ENST00000237500.5_Missense_Mutation_p.R161H|MYL12B_ENST00000584539.1_Missense_Mutation_p.R161H|MYL12B_ENST00000400175.5_Missense_Mutation_p.R161H	NM_001144945.1	NP_001138417.1	O14950	ML12B_HUMAN	myosin, light chain 12B, regulatory	161	EF-hand 3.				axon guidance|muscle contraction	cytosol|myosin complex	calcium ion binding			breast(1)|large_intestine(1)|lung(2)	4						GAGTTCACACGCATCCTGAAA	0.408													A	3277898	G	A	3277898	3	1	364	1	0	0	0	0	1	0	0	0	10122	1087	38	1	492	1	MYL12B	18	3277898	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126167	3277898	74799350	12857	36359											
TGIF1	7050	broad.mit.edu	37	chr18	3457843	3457843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctcctccccctactccaccgGacctcaaccaggacttcagt	8	8	5	20	1	2	0	2	0	0	0	5	2	5	2	7	2	2	0	7	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3457843G>A	ENST00000472042.1	+	2	1648	c.664G>A	c.(664-666)Gac>Aac	p.D222N	TGIF1_ENST00000343820.5_Missense_Mutation_p.D242N|TGIF1_ENST00000401449.1_Missense_Mutation_p.D222N|TGIF1_ENST00000405385.3_Missense_Mutation_p.D222N|TGIF1_ENST00000407501.2_Missense_Mutation_p.D242N|TGIF1_ENST00000551541.1_Missense_Mutation_p.D222N|TGIF1_ENST00000400167.2_Missense_Mutation_p.D222N|TGIF1_ENST00000345133.5_Missense_Mutation_p.D222N|TGIF1_ENST00000330513.5_Missense_Mutation_p.D371N|TGIF1_ENST00000548489.2_Missense_Mutation_p.D256N			Q15583	TGIF1_HUMAN	TGFB-induced factor homeobox 1	371					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13	Esophageal squamous(4;0.0859)	Colorectal(8;0.0104)				TACTCCACCGGACCTCAACCA	0.493													A	3457843	G	A	3457843	3	1	364	1	0	0	0	0	1	0	0	0	15925	1174	41	2	1203	2	TGIF1	18	3457843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179945	3457843	74619405	12858	36360											
DLGAP1	9229	broad.mit.edu	37	chr18	3582061	3582061	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagccttcatactgtccaGgctctcggtggagttgctga	7	11	12	11	1	2	2	1	1	1	1	4	3	3	3	2	3	3	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3582061G>T	ENST00000315677.3	-	8	2372	c.1777C>A	c.(1777-1779)Ctg>Atg	p.L593M	DLGAP1_ENST00000400147.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000515196.2_Missense_Mutation_p.L593M|DLGAP1_ENST00000534970.1_Missense_Mutation_p.L277M|DLGAP1_ENST00000400150.3_Missense_Mutation_p.L309M|DLGAP1_ENST00000400155.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000400145.2_Missense_Mutation_p.L291M|DLGAP1_ENST00000581527.1_Missense_Mutation_p.L593M|DLGAP1_ENST00000400149.3_Missense_Mutation_p.L283M|DLGAP1_ENST00000581699.1_Missense_Mutation_p.L299M|DLGAP1_ENST00000539435.1_Missense_Mutation_p.L301M|DLGAP1_ENST00000584874.1_Missense_Mutation_p.L593M	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	593					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				ATACTGTCCAGGCTCTCGGTG	0.577													T	3582061	G	T	3582061	3	4	364	1	0	0	0	0	1	0	0	0	4598	991	35	4	1180	4	DLGAP1	18	3582061	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124218	3582061	74495187	12859	36361											
DLGAP1	9229	broad.mit.edu	37	chr18	3729277	3729277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgcggaagcagccgggCatgggcaggtccagcgcttc	7	5	16	13	4	0	0	0	0	0	0	2	1	1	1	2	4	4	5	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:3729277C>T	ENST00000315677.3	-	7	2044	c.1449G>A	c.(1447-1449)atG>atA	p.M483I	DLGAP1_ENST00000400147.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000515196.2_Missense_Mutation_p.M483I|DLGAP1_ENST00000534970.1_Missense_Mutation_p.M195I|DLGAP1_ENST00000400150.3_Missense_Mutation_p.M189I|DLGAP1_ENST00000400155.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000400145.2_Missense_Mutation_p.M181I|DLGAP1_ENST00000478161.1_5'UTR|DLGAP1_ENST00000581527.1_Missense_Mutation_p.M483I|DLGAP1_ENST00000400149.3_Missense_Mutation_p.M191I|DLGAP1_ENST00000581699.1_Missense_Mutation_p.M189I|DLGAP1_ENST00000539435.1_Missense_Mutation_p.M181I|DLGAP1_ENST00000584874.1_Missense_Mutation_p.M483I	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	483					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				AGCAGCCGGGCATGGGCAGGT	0.652													T	3729277	C	T	3729277	3	4	364	1	0	0	0	0	1	0	0	0	4598	710	25	2	1512	2	DLGAP1	18	3729277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147216	3729277	74347971	12860	36362											
EPB41L3	23136	broad.mit.edu	37	chr18	5397138	5397138	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgctcacgggaagcagcGgctgtctcttcctgttccag	5	11	12	13	3	2	0	1	0	1	0	6	1	4	1	2	2	2	4	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5397138G>A	ENST00000341928.2	-	18	3100	c.2760C>T	c.(2758-2760)gcC>gcT	p.A920A	EPB41L3_ENST00000542146.1_Silent_p.A225A|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Silent_p.A751A|EPB41L3_ENST00000400111.3_Silent_p.A698A|EPB41L3_ENST00000427684.2_Silent_p.A217A|EPB41L3_ENST00000342933.3_Silent_p.A920A|EPB41L3_ENST00000540638.2_Silent_p.A698A	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	920	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGGAAGCAGCGGCTGTCTCTT	0.507													A	5397138	G	A	5397138	2	1	364	1	0	0	0	0	0	0	0	1	5195	1103	39	1		1	EPB41L3	18	5397138	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1667861	5397138	72680110	12861	36363											
EPB41L3	23136	broad.mit.edu	37	chr18	5419723	5419723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatacctttccctcgtgcCggatggccgagatgggcgtg	5	10	14	12	4	0	1	0	0	0	1	2	3	1	2	4	3	2	1	4	3	2	3	rs117538203	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:5419723C>T	ENST00000341928.2	-	12	1833	c.1493G>A	c.(1492-1494)cGg>cAg	p.R498Q	EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R516Q|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R516Q|EPB41L3_ENST00000427684.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R498Q|EPB41L3_ENST00000540638.2_Missense_Mutation_p.R516Q	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	498	Hydrophilic.			R -> Q (in Ref. 1; AAC79806).	cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TCCCTCGTGCCGGATGGCCGA	0.547													T	5419723	C	T	5419723	3	4	364	1	0	0	0	0	1	0	0	0	5195	652	23	1	1814	1	EPB41L3	18	5419723	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22585	5419723	72657525	12862	36364											
ARHGAP28	79822	broad.mit.edu	37	chr18	6882228	6882229	+	Frame_Shift_Ins	INS	-	-	T																															ctgcagtaatgttgaaagcgINStttttcagagaactacccac																								rs80166861	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6882228_6882229insT	ENST00000419673.2	+	10	1123_1124	c.906_907insT	c.(907-909)tttfs	p.F303fs	ARHGAP28_ENST00000262227.3_Frame_Shift_Ins_p.F410fs|ARHGAP28_ENST00000400091.2_Frame_Shift_Ins_p.F462fs|ARHGAP28_ENST00000314319.3_Frame_Shift_Ins_p.F303fs|ARHGAP28_ENST00000418986.1_Frame_Shift_Ins_p.F303fs|ARHGAP28_ENST00000532996.1_Frame_Shift_Ins_p.F285fs|ARHGAP28_ENST00000531294.1_Frame_Shift_Ins_p.F298fs|ARHGAP28_ENST00000383472.4_Frame_Shift_Ins_p.F462fs	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	285					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				TGTTGAAAGCGTTTTTCAGAGA	0.391													T	6882229	-	T	6882228	7	5	364	1	0	1	1	0	0	0	0	0	880	1132	40	0	940	0	ARHGAP28	18	6882228	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1462505	6882228	71195020	12863	36365											
LAMA1	284217	broad.mit.edu	37	chr18	6959355	6959355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacctccgattcctgaccAaggagatggaatgcgcttgt	10	10	11	10	2	0	2	0	1	0	1	2	5	2	3	4	2	2	2	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6959355A>G	ENST00000389658.3	-	54	7856	c.7763T>C	c.(7762-7764)tTg>tCg	p.L2588S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2588	Laminin G-like 3.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATTCCTGACCAAGGAGATGGA	0.582													G	6959355	A	G	6959355	3	3	364	1	0	0	0	0	1	0	0	0	8664	131	5	3	1504	3	LAMA1	18	6959355	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	77127	6959355	71117893	12864	36366											
LAMA1	284217	broad.mit.edu	37	chr18	6961979	6961979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctcactccataggaatTtctgagtaagtcaaaggttg	11	15	8	7	0	3	1	2	1	2	0	5	2	4	2	1	2	0	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6961979T>C	ENST00000389658.3	-	52	7510	c.7417A>G	c.(7417-7419)Aat>Gat	p.N2473D		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	2473	Laminin G-like 2.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCATAGGAATTTCTGAGTAAG	0.403													C	6961979	T	C	6961979	3	2	364	1	0	0	0	0	1	0	0	0	8664	1841	64	3	1858	3	LAMA1	18	6961979	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2624	6961979	71115269	12865	36367											
LAMA1	284217	broad.mit.edu	37	chr18	6993675	6993675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcctctcaatggctatgGccaggtcttgactctccttg	6	12	10	13	0	3	1	1	1	3	0	5	1	3	1	3	3	1	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:6993675G>A	ENST00000389658.3	-	35	5066	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1658	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AATGGCTATGGCCAGGTCTTG	0.453													A	6993675	G	A	6993675	3	1	364	1	0	0	0	0	1	0	0	0	8664	1203	42	2	4370	2	LAMA1	18	6993675	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31696	6993675	71083573	12866	36368											
LAMA1	284217	broad.mit.edu	37	chr18	7044729	7044729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtatactgaccttcacatGtattgccggaggacacggtt	11	11	10	9	2	1	1	1	1	0	0	1	3	1	3	2	3	2	3	2	3	4	6	rs147036555		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7044729G>A	ENST00000389658.3	-	7	1061	c.968C>T	c.(967-969)aCa>aTa	p.T323I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	323	Laminin EGF-like 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCTTCACATGTATTGCCGGA	0.468													A	7044729	G	A	7044729	3	1	364	1	0	0	0	0	1	0	0	0	8664	1377	48	2	8487	2	LAMA1	18	7044729	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51054	7044729	71032519	12867	36369											
PTPRM	5797	broad.mit.edu	37	chr18	7888151	7888151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacctgaggggcagagaGcccacctgctcttaccccaa	10	5	12	14	0	1	3	0	1	1	2	1	5	1	3	5	3	3	2	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:7888151G>A	ENST00000332175.8	+	3	1281	c.244G>A	c.(244-246)Gcc>Acc	p.A82T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A20T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A82T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A82T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	82	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GGGGCAGAGAGCCCACCTGCT	0.458													A	7888151	G	A	7888151	3	1	364	1	0	0	0	0	1	0	0	0	12894	971	34	2	254	2	PTPRM	18	7888151	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	843422	7888151	70189097	12868	36370											
PTPRM	5797	broad.mit.edu	37	chr18	8069839	8069839	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaggacaagaacaagtgCgagaagaagtaagctgggat	16	6	15	4	1	0	3	0	0	0	3	0	7	0	6	0	3	3	2	0	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:8069839C>T	ENST00000332175.8	+	8	2325	c.1288C>T	c.(1288-1290)Cga>Tga	p.R430*	PTPRM_ENST00000578571.1_3'UTR|PTPRM_ENST00000400053.4_Nonsense_Mutation_p.R368*|PTPRM_ENST00000444013.1_Nonsense_Mutation_p.R217*|PTPRM_ENST00000400060.4_Nonsense_Mutation_p.R430*|PTPRM_ENST00000580170.1_Nonsense_Mutation_p.R430*	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	430	Fibronectin type-III 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AGAACAAGTGCGAGAAGAAGT	0.443													T	8069839	C	T	8069839	4	4	364	1	0	0	0	0	0	1	0	0	12894	760	27	1	1318	1	PTPRM	18	8069839	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	181688	8069839	70007409	12869	36371											
ANKRD12	23253	broad.mit.edu	37	chr18	9255390	9255390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagtgatgaaactgaagatCtctttttaaatatggaacat	17	13	7	4	0	1	4	0	3	1	1	2	5	1	5	0	1	2	0	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9255390C>T	ENST00000262126.4	+	9	2365	c.2125C>T	c.(2125-2127)Ctc>Ttc	p.L709F	ANKRD12_ENST00000400020.3_Missense_Mutation_p.L686F|ANKRD12_ENST00000383440.2_Missense_Mutation_p.L686F	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						aaCTGAAGATCTCTTTTTAAA	0.294													T	9255390	C	T	9255390	3	4	364	1	0	0	0	0	1	0	0	0	640	913	32	2	2155	2	ANKRD12	18	9255390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1185551	9255390	68821858	12870	36372											
ANKRD12	23253	broad.mit.edu	37	chr18	9258860	9258860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacctcagtactatgaCgaatatgtaacatttaacgg	15	10	7	9	2	1	1	1	1	0	0	1	2	1	1	1	1	4	3	1	1	7	6	rs149491789	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9258860C>T	ENST00000262126.4	+	9	5835	c.5595C>T	c.(5593-5595)gaC>gaT	p.D1865D	ANKRD12_ENST00000400020.3_Silent_p.D1842D|ANKRD12_ENST00000383440.2_Silent_p.D1842D	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						AGTACTATGACGAATATGTAA	0.363													T	9258860	C	T	9258860	2	4	364	1	0	0	0	0	0	0	0	1	640	535	19	1		1	ANKRD12	18	9258860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3470	9258860	68818388	12871	36373											
ANKRD12	23253	broad.mit.edu	37	chr18	9263874	9263874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaactacgtttgcaacaCagtattgaaagggtaagaaa	18	9	9	5	1	0	3	0	2	0	1	0	3	0	3	0	1	4	4	0	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9263874C>T	ENST00000262126.4	+	10	5991	c.5751C>T	c.(5749-5751)caC>caT	p.H1917H	ANKRD12_ENST00000400020.3_Silent_p.H1894H|ANKRD12_ENST00000383440.2_Silent_p.H1894H	NM_015208.4	NP_056023.3	Q6UB98	ANR12_HUMAN	ankyrin repeat domain 12							nucleus				NS(1)|breast(3)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(20)|lung(18)|ovary(3)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(2)	65						GTTTGCAACACAGTATTGAAA	0.308													T	9263874	C	T	9263874	2	4	364	1	0	0	0	0	0	0	0	1	640	477	17	2		2	ANKRD12	18	9263874	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5014	9263874	68813374	12872	36374											
RALBP1	10928	broad.mit.edu	37	chr18	9522280	9522280	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttgcgagaccttccaGagaatttgcttaccaaagag	13	11	9	8	1	0	3	0	0	0	3	1	5	1	3	3	0	3	2	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9522280G>T	ENST00000019317.4	+	4	1049	c.826G>T	c.(826-828)Gag>Tag	p.E276*	RALBP1_ENST00000383432.3_Nonsense_Mutation_p.E276*			Q15311	RBP1_HUMAN	ralA binding protein 1	276	Rho-GAP.				chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						AGACCTTCCAGAGAATTTGCT	0.473													T	9522280	G	T	9522280	4	4	364	1	0	0	0	0	0	1	0	0	13100	943	33	4	836	4	RALBP1	18	9522280	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258406	9522280	68554968	12873	36375											
RALBP1	10928	broad.mit.edu	37	chr18	9533376	9533376	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctcctggccatggAgcagtttctgcgccggcaga	7	7	16	11	2	1	1	0	0	1	1	2	4	2	4	3	5	3	4	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9533376A>T	ENST00000019317.4	+	8	1722	c.1499A>T	c.(1498-1500)gAg>gTg	p.E500V	RALBP1_ENST00000383432.3_Missense_Mutation_p.E500V			Q15311	RBP1_HUMAN	ralA binding protein 1	500					chemotaxis|positive regulation of Cdc42 GTPase activity|small GTPase mediated signal transduction|transport	cytosol|membrane	ATPase activity, coupled to movement of substances|Rac GTPase activator activity|Rac GTPase binding|Ral GTPase binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(3)|upper_aerodigestive_tract(1)	14						CTGGCCATGGAGCAGTTTCTG	0.473													T	9533376	A	T	9533376	3	4	364	1	0	0	0	0	1	0	0	0	13100	304	11	5	1525	5	RALBP1	18	9533376	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11096	9533376	68543872	12874	36376											
PPP4R1	9989	broad.mit.edu	37	chr18	9559476	9559476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtgccaattctgtcttcCgagtgtcaaggccacaccag	9	9	10	13	1	3	0	1	0	2	0	4	1	4	0	4	1	1	1	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9559476C>T	ENST00000400556.3	-	14	2042	c.1969G>A	c.(1969-1971)Gga>Aga	p.G657R	PPP4R1_ENST00000400555.3_Missense_Mutation_p.G640R	NM_001042388.2	NP_001035847.1	Q8TF05	PP4R1_HUMAN	protein phosphatase 4, regulatory subunit 1	657					protein phosphorylation|signal transduction	protein phosphatase 4 complex	protein binding|protein phosphatase type 4 regulator activity			large_intestine(1)|skin(2)	3						TTCTGTCTTCCGAGTGTCAAG	0.483													T	9559476	C	T	9559476	3	4	364	1	0	0	0	0	1	0	0	0	12485	661	23	1	911	1	PPP4R1	18	9559476	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26100	9559476	68517772	12875	36377											
TXNDC2	84203	broad.mit.edu	37	chr18	9887909	9887909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtggacttctcggccaCgtggtgtgggccctgcagga	4	9	17	11	2	1	0	0	0	1	0	2	2	1	2	2	6	1	2	2	6	0	1	rs142043945		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:9887909C>T	ENST00000357775.5	+	2	1467	c.1232C>T	c.(1231-1233)aCg>aTg	p.T411M	TXNDC2_ENST00000306084.6_Missense_Mutation_p.T478M|TXNDC2_ENST00000536353.2_3'UTR	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						TTCTCGGCCACGTGGTGTGGG	0.592													T	9887909	C	T	9887909	3	4	364	1	0	0	0	0	1	0	0	0	16899	536	19	1	1439	1	TXNDC2	18	9887909	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	328433	9887909	68189339	12876	36378											
NAPG	8774	broad.mit.edu	37	chr18	10540398	10540398	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactagtacgaggacgtaggTatgtctttaaaaactattgc	13	13	9	6	2	1	0	0	0	1	0	1	2	1	1	0	2	4	3	0	2	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10540398T>C	ENST00000322897.6	+	8	575		c.e8+2		NAPG_ENST00000542979.1_Splice_Site	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma						cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						AGGACGTAGGTATGTCTTTAA	0.358													C	10540398	T	C	10540398	5	2	364	1	0	0	0	0	0	0	1	0	10240	1652	57	3	538	3	NAPG	18	10540398	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	652489	10540398	67536850	12877	36379											
NAPG	8774	broad.mit.edu	37	chr18	10550152	10550152	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgcaacaccacaggccaagCctgatggtgtcactgccacg	10	6	10	15	1	1	1	1	1	0	0	1	1	1	1	4	2	4	1	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:10550152C>A	ENST00000322897.6	+	12	943	c.874C>A	c.(874-876)Cct>Act	p.P292T	NAPG_ENST00000542979.1_Missense_Mutation_p.P210T	NM_003826.2	NP_003817.1	Q99747	SNAG_HUMAN	N-ethylmaleimide-sensitive factor attachment protein, gamma	292					cellular membrane fusion|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein complex assembly|protein stabilization	membrane|membrane fraction|mitochondrion	protein binding			large_intestine(2)|lung(2)	4						ACAGGCCAAGCCTGATGGTGT	0.478													A	10550152	C	A	10550152	3	1	364	1	0	0	0	0	1	0	0	0	10240	739	26	4	920	4	NAPG	18	10550152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9754	10550152	67527096	12878	36380											
GNAL	2774	broad.mit.edu	37	chr18	11872382	11872382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagaatatgcaaattatActgttcctgaagacggtaag	14	11	8	8	1	0	3	0	1	0	2	2	3	2	3	2	1	2	3	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11872382A>G	ENST00000334049.6	+	10	1755	c.1147A>G	c.(1147-1149)Act>Gct	p.T383A	GNAL_ENST00000423027.3_Missense_Mutation_p.T306A|GNAL_ENST00000602628.1_Missense_Mutation_p.T99A|GNAL_ENST00000269162.5_Missense_Mutation_p.T306A|GNAL_ENST00000535121.1_Missense_Mutation_p.T306A	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	306					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						TGCAAATTATACTGTTCCTGA	0.323													G	11872382	A	G	11872382	3	3	364	1	0	0	0	0	1	0	0	0	6563	391	14	3	1334	3	GNAL	18	11872382	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1322230	11872382	66204866	12879	36381											
MPPE1	65258	broad.mit.edu	37	chr18	11886499	11886499	+	Splice_Site	DEL	T	T	-																															tcacgacaccctggcaaaccTtttgtgatgcctcccgtgaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:11886499delT	ENST00000588072.1	-	9	2087	c.866delA	c.(865-867)aag>ag	p.K289fs	MPPE1_ENST00000399978.2_Splice_Site_p.K290fs|MPPE1_ENST00000317235.7_Intron|MPPE1_ENST00000309976.9_Intron|MPPE1_ENST00000344987.7_Splice_Site_p.K267fs	NM_023075.5	NP_075563.3	Q53F39	MPPE1_HUMAN	metallophosphoesterase 1	289					ER to Golgi vesicle-mediated transport|GPI anchor biosynthetic process	cis-Golgi network|endoplasmic reticulum exit site|ER-Golgi intermediate compartment membrane|integral to membrane	GPI anchor binding|manganese ion binding|phosphoric diester hydrolase activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5						CTGGCAAACCTTTTGTGATGC	0.502													-	11886499	T	-	11886499	8	5	364	1	0	1	0	1	0	0	1	0	9816	1623	56	0	336	0	MPPE1	18	11886499	Splice_Site	DEL	T	TCGA-DU-6392-01A-11D-1705-08	14117	11886499	66190749	12880	36382											
TUBB6	84617	broad.mit.edu	37	chr18	12325589	12325589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcctgcacttcttcatGcctggcttcgcgccgctcac	3	10	9	19	5	3	0	2	0	1	0	4	0	3	0	4	1	2	3	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12325589G>A	ENST00000317702.5	+	4	1035	c.801G>A	c.(799-801)atG>atA	p.M267I	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	267					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		ACTTCTTCATGCCTGGCTTCG	0.672													A	12325589	G	A	12325589	3	1	364	1	0	0	0	0	1	0	0	0	16862	1319	46	2	815	2	TUBB6	18	12325589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	439090	12325589	65751659	12881	36383											
AFG3L2	10939	broad.mit.edu	37	chr18	12358835	12358835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttctccgacactgaagagtCcgcccatccctcggcctgtc	6	10	8	17	3	1	2	0	1	1	1	6	3	3	2	5	1	0	0	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12358835C>T	ENST00000269143.3	-	8	1091	c.860G>A	c.(859-861)gGa>gAa	p.G287E		NM_006796.2	NP_006787.2	Q9Y4W6	AFG32_HUMAN	AFG3-like AAA ATPase 2	287					cell death|protein catabolic process|proteolysis	integral to membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|prostate(3)|skin(1)|stomach(3)|urinary_tract(1)	27					Adenosine triphosphate(DB00171)	ACTGAAGAGTCCGCCCATCCC	0.547													T	12358835	C	T	12358835	3	4	364	1	0	0	0	0	1	0	0	0	360	855	30	2	1573	2	AFG3L2	18	12358835	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33246	12358835	65718413	12882	36384											
SLMO1	10650	broad.mit.edu	37	chr18	12429359	12429359	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgttgcaggggtgggctgCtatcgagtggataattgaac	8	12	16	5	1	0	1	0	1	0	0	1	3	0	2	0	4	3	4	0	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12429359C>A	ENST00000592149.1	+	5	836	c.413C>A	c.(412-414)gCt>gAt	p.A138D	SLMO1_ENST00000440960.1_Missense_Mutation_p.A159D|SLMO1_ENST00000336990.4_Missense_Mutation_p.A159D|SLMO1_ENST00000590956.1_Missense_Mutation_p.A69D|SLMO1_ENST00000587735.1_Missense_Mutation_p.A69D			Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	159	PRELI/MSF1.									endometrium(1)	1						GGGTGGGCTGCTATCGAGTGG	0.527													A	12429359	C	A	12429359	3	1	364	1	0	0	0	0	1	0	0	0	14844	797	28	4	498	4	SLMO1	18	12429359	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70524	12429359	65647889	12883	36385											
PTPN2	5771	broad.mit.edu	37	chr18	12840713	12840713	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcaatttaagagattacCtatttcctgcattctgcatt	10	17	6	8	0	1	1	0	0	1	1	2	2	2	1	2	0	4	3	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12840713C>A	ENST00000591497.1	-	2	325	c.73G>T	c.(73-75)Gat>Tat	p.D25Y	PTPN2_ENST00000327283.3_Intron|PTPN2_ENST00000309660.5_Intron|PTPN2_ENST00000353319.4_Intron|PTPN2_ENST00000589086.1_Intron|PTPN2_ENST00000591115.1_Intron			P17706	PTN2_HUMAN	protein tyrosine phosphatase, non-receptor type 2	0	Tyrosine-protein phosphatase.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway	endoplasmic reticulum|nucleoplasm	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|prostate(1)|skin(3)	13		Lung NSC(161;8.94e-06)				AAGAGATTACCTATTTCCTGC	0.423													A	12840713	C	A	12840713	5	1	364	1	0	0	0	0	0	0	1	0	12871	696	24	4		4	PTPN2	18	12840713	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	411354	12840713	65236535	12884	36386											
SEH1L	81929	broad.mit.edu	37	chr18	12948202	12948202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttccacgggcggcggatgGcaacctgctccagcgatcag	8	6	13	14	4	1	0	1	0	0	0	3	2	3	1	3	4	3	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12948202G>A	ENST00000262124.11	+	1	209	c.82G>A	c.(82-84)Gca>Aca	p.A28T	SEH1L_ENST00000399892.2_Missense_Mutation_p.A28T	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	28					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GCGGCGGATGGCAACCTGCTC	0.677													A	12948202	G	A	12948202	3	1	364	1	0	0	0	0	1	0	0	0	14102	1203	42	2	84	2	SEH1L	18	12948202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107489	12948202	65129046	12885	36387											
SEH1L	81929	broad.mit.edu	37	chr18	12951898	12951898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattggcattgtactgctagCtggaaggttagtatttattt	9	17	11	4	0	0	0	0	0	0	0	0	2	0	1	0	3	3	6	0	3	6	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:12951898C>A	ENST00000262124.11	+	2	283	c.156C>A	c.(154-156)agC>agA	p.S52R	SEH1L_ENST00000399892.2_Missense_Mutation_p.S52R	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	52					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTACTGCTAGCTGGAAGGTTA	0.244													A	12951898	C	A	12951898	3	1	364	1	0	0	0	0	1	0	0	0	14102	796	28	4	162	4	SEH1L	18	12951898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3696	12951898	65125350	12886	36388											
CEP192	55125	broad.mit.edu	37	chr18	13052933	13052933	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggtgtgcgttagagtcCtttggttcagcagctcagca	7	13	12	9	1	3	1	3	0	0	1	4	1	4	1	1	2	4	5	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13052933C>A	ENST00000506447.1	+	18	3113	c.3033C>A	c.(3031-3033)tcC>tcA	p.S1011S	CEP192_ENST00000430049.2_Silent_p.S536S|CEP192_ENST00000325971.8_Silent_p.S415S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	606										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CGTTAGAGTCCTTTGGTTCAG	0.527													A	13052933	C	A	13052933	2	1	364	1	0	0	0	0	0	0	0	1	3281	668	24	4		4	CEP192	18	13052933	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101035	13052933	65024315	12887	36389											
CEP192	55125	broad.mit.edu	37	chr18	13056133	13056133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgtcaggtggggtcaGccacatcacaccctgtgtcc	7	9	12	13	0	3	1	3	1	0	0	4	1	4	1	3	3	2	1	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056133G>T	ENST00000506447.1	+	19	3624	c.3544G>T	c.(3544-3546)Gcc>Tcc	p.A1182S	CEP192_ENST00000430049.2_Missense_Mutation_p.A707S|CEP192_ENST00000325971.8_Missense_Mutation_p.A586S	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	777										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGTGGGGTCAGCCACATCACA	0.532													T	13056133	G	T	13056133	3	4	364	1	0	0	0	0	1	0	0	0	3281	971	34	4	3614	4	CEP192	18	13056133	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3200	13056133	65021115	12888	36390											
CEP192	55125	broad.mit.edu	37	chr18	13056632	13056632	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacaacaaaaccttttcCtgtgccgtctgttggtacaa	12	11	7	11	1	1	0	0	0	1	0	2	0	2	0	3	1	5	3	3	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13056632C>A	ENST00000506447.1	+	19	4123	c.4043C>A	c.(4042-4044)cCt>cAt	p.P1348H	CEP192_ENST00000430049.2_Missense_Mutation_p.P873H|CEP192_ENST00000325971.8_Missense_Mutation_p.P752H	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	943										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						AAACCTTTTCCTGTGCCGTCT	0.413													A	13056632	C	A	13056632	3	1	364	1	0	0	0	0	1	0	0	0	3281	681	24	4	4113	4	CEP192	18	13056632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	499	13056632	65020616	12889	36391											
CEP192	55125	broad.mit.edu	37	chr18	13095650	13095650	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgtggactgtcctacccGagcacttgattctggtagct	7	11	11	12	2	1	1	0	1	1	0	2	3	2	2	3	2	4	3	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13095650G>T	ENST00000506447.1	+	35	6483	c.6403G>T	c.(6403-6405)Gag>Tag	p.E2135*	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Nonsense_Mutation_p.E1660*|CEP192_ENST00000325971.8_Nonsense_Mutation_p.E1539*	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1730										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGTCCTACCCGAGCACTTGAT	0.587													T	13095650	G	T	13095650	4	4	364	1	0	0	0	0	0	1	0	0	3281	1059	37	4	6537	4	CEP192	18	13095650	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39018	13095650	64981598	12890	36392											
CEP192	55125	broad.mit.edu	37	chr18	13103524	13103524	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagagagctgtctagaactCgagaatcatggcaccacaga	14	8	10	9	1	2	4	1	0	1	4	3	6	2	4	1	1	2	2	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103524C>T	ENST00000506447.1	+	39	6968	c.6888C>T	c.(6886-6888)ctC>ctT	p.L2296L	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.L1821L|CEP192_ENST00000325971.8_Silent_p.L1700L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1891										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GTCTAGAACTCGAGAATCATG	0.433													T	13103524	C	T	13103524	2	4	364	1	0	0	0	0	0	0	0	1	3281	871	31	1		1	CEP192	18	13103524	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7874	13103524	64973724	12891	36393											
CEP192	55125	broad.mit.edu	37	chr18	13103558	13103558	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagacgtgaaatggcatCtgtcatctttagcgccacct	10	10	8	13	2	3	2	1	1	2	1	3	2	3	2	3	1	1	1	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13103558C>A	ENST00000506447.1	+	39	7002	c.6922C>A	c.(6922-6924)Ctg>Atg	p.L2308M	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.L1833M|CEP192_ENST00000325971.8_Missense_Mutation_p.L1712M	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1903										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GAAATGGCATCTGTCATCTTT	0.408													A	13103558	C	A	13103558	3	1	364	1	0	0	0	0	1	0	0	0	3281	912	32	4	7072	4	CEP192	18	13103558	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34	13103558	64973690	12892	36394											
MC5R	4161	broad.mit.edu	37	chr18	13826657	13826657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctctcatatatgccttccGcagccaagagatgcggaaga	11	8	9	13	2	1	2	1	0	1	2	3	4	2	3	4	1	3	1	4	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13826657G>A	ENST00000324750.3	+	1	1115	c.893G>A	c.(892-894)cGc>cAc	p.R298H		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	298					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TATGCCTTCCGCAGCCAAGAG	0.478													A	13826657	G	A	13826657	3	1	364	1	0	0	0	0	1	0	0	0	9442	1087	38	1	895	1	MC5R	18	13826657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	723099	13826657	64250591	12893	36395											
MC2R	4158	broad.mit.edu	37	chr18	13884765	13884765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagagacatgtagcaggcGcagtaggggttacttgggca	12	7	16	6	1	0	2	0	0	0	2	0	3	0	2	0	4	2	6	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:13884765G>A	ENST00000327606.3	-	2	933	c.753C>T	c.(751-753)tgC>tgT	p.C251C		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	251			C -> F (in GCCD1).		G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TGTAGCAGGCGCAGTAGGGGT	0.542													A	13884765	G	A	13884765	2	1	364	1	0	0	0	0	0	0	0	1	9439	1079	38	1		1	MC2R	18	13884765	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58108	13884765	64192483	12894	36396											
ANKRD30B	374860	broad.mit.edu	37	chr18	14752923	14752923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatgtgtatggcaacaCggctctccattatgccgttt	8	14	10	9	2	1	1	0	0	1	1	2	1	1	1	2	2	2	5	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:14752923C>T	ENST00000358984.4	+	3	602	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.T141M|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	141										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TATGGCAACACGGCTCTCCAT	0.428													T	14752923	C	T	14752923	3	4	364	1	0	0	0	0	1	0	0	0	659	536	19	1	432	1	ANKRD30B	18	14752923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	868158	14752923	63324325	12895	36397											
ROCK1	6093	broad.mit.edu	37	chr18	18546978	18546978	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcaattgctcaatatcactCtctttgctggccaactgcat	9	13	6	13	1	3	0	2	0	1	0	4	0	3	0	1	1	4	4	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18546978C>T	ENST00000399799.2	-	27	4192	c.3252G>A	c.(3250-3252)gaG>gaA	p.E1084E		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1						actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CAATATCACTCTCTTTGCTGG	0.388													T	18546978	C	T	18546978	2	4	364	1	0	0	0	0	0	0	0	1	13608	912	32	2		2	ROCK1	18	18546978	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3794055	18546978	59530270	12896	36398											
ROCK1	6093	broad.mit.edu	37	chr18	18586428	18586428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttagaattctctaaaattCgatttctctcttgcaactct	11	17	3	10	1	4	1	0	0	4	1	7	2	4	1	0	0	2	1	0	0	5	6	rs141266099		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18586428C>T	ENST00000399799.2	-	16	2709	c.1769G>A	c.(1768-1770)cGa>cAa	p.R590Q		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Interaction with FHOD1.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					CTCTAAAATTCGATTTCTCTC	0.403													T	18586428	C	T	18586428	3	4	364	1	0	0	0	0	1	0	0	0	13608	884	31	1	2367	1	ROCK1	18	18586428	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39450	18586428	59490820	12897	36399											
ROCK1	6093	broad.mit.edu	37	chr18	18622660	18622660	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaccgctgtatcacatcgtAccatgccttcctaaaaagcg	12	9	6	14	3	1	0	1	0	0	0	3	0	2	0	4	0	4	3	4	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:18622660A>G	ENST00000399799.2	-	7	1626	c.686T>C	c.(685-687)gTa>gCa	p.V229A		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Protein kinase.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					ATCACATCGTACCATGCCTTC	0.373													G	18622660	A	G	18622660	3	3	364	1	0	0	0	0	1	0	0	0	13608	391	14	3	3486	3	ROCK1	18	18622660	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36232	18622660	59454588	12898	36400											
ESCO1	114799	broad.mit.edu	37	chr18	19153731	19153731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgattacattgcacatcCtgatttgtttccttctgatg	10	16	6	9	1	1	2	0	2	1	0	3	3	3	2	2	0	3	2	2	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19153731C>T	ENST00000269214.5	-	4	2011	c.1074G>A	c.(1072-1074)caG>caA	p.Q358Q		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	358					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						ATTGCACATCCTGATTTGTTT	0.363													T	19153731	C	T	19153731	2	4	364	1	0	0	0	0	0	0	0	1	5289	680	24	2		2	ESCO1	18	19153731	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	531071	19153731	58923517	12899	36401											
MIB1	57534	broad.mit.edu	37	chr18	19426999	19426999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgctgacctgagcattcGaaataagaagggtcaatcgc	12	9	12	8	2	1	3	1	2	0	1	3	4	1	3	1	2	2	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19426999G>A	ENST00000261537.6	+	16	2570	c.2306G>A	c.(2305-2307)cGa>cAa	p.R769Q	MIB1_ENST00000578646.1_3'UTR	NM_020774.2	NP_065825.1	Q86YT6	MIB1_HUMAN	mindbomb E3 ubiquitin protein ligase 1	769					Notch signaling pathway	centrosome|nuclear membrane|plasma membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|ovary(5)	27			STAD - Stomach adenocarcinoma(5;0.212)			CTGAGCATTCGAAATAAGAAG	0.453													A	19426999	G	A	19426999	3	1	364	1	0	0	0	0	1	0	0	0	9641	1058	37	1	2368	1	MIB1	18	19426999	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	273268	19426999	58650249	12900	36402											
GATA6	2627	broad.mit.edu	37	chr18	19751405	19751405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcggcgcctggggtcgcGggccccgggggcaacctgtc	2	6	17	16	5	0	0	0	0	0	0	3	0	0	0	5	6	1	1	5	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:19751405G>A	ENST00000269216.3	+	2	577	c.300G>A	c.(298-300)gcG>gcA	p.A100A	GATA6_ENST00000581694.1_Silent_p.A100A	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	100					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CTGGGGTCGCGGGCCCCGGGG	0.731													A	19751405	G	A	19751405	2	1	364	1	0	0	0	0	0	0	0	1	6312	1103	39	1		1	GATA6	18	19751405	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324406	19751405	58325843	12901	36403											
RBBP8	5932	broad.mit.edu	37	chr18	20576405	20576405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcagtataaaatggatGttactgtaatagatacaaag	16	14	7	4	0	1	1	1	0	1	1	2	2	1	2	0	1	2	3	0	1	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20576405G>A	ENST00000399722.2	+	13	2359	c.2008G>A	c.(2008-2010)Gtt>Att	p.V670I	RBBP8_ENST00000399725.2_Missense_Mutation_p.V670I|RBBP8_ENST00000327155.5_Missense_Mutation_p.V670I|RBBP8_ENST00000360790.5_Missense_Mutation_p.V670I	NM_203291.1	NP_976036.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	670					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			TAAAATGGATGTTACTGTAAT	0.353								Homologous recombination					A	20576405	G	A	20576405	3	1	364	1	0	0	0	0	1	0	0	0	13193	1377	48	2	2054	2	RBBP8	18	20576405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	825000	20576405	57500843	12902	36404											
CABLES1	91768	broad.mit.edu	37	chr18	20837319	20837319	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccccactacagacggctggtCcagagttcctagcactggcc	8	7	10	16	1	0	2	0	0	0	2	2	2	2	2	5	3	2	3	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:20837319C>T	ENST00000256925.7	+	10	1890	c.1890C>T	c.(1888-1890)gtC>gtT	p.V630V	CABLES1_ENST00000585061.1_Intron|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000400473.2_Silent_p.V303V|CABLES1_ENST00000420687.2_Silent_p.V365V|RP11-17J14.2_ENST00000585184.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	630					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GACGGCTGGTCCAGAGTTCCT	0.532													T	20837319	C	T	20837319	2	4	364	1	0	0	0	0	0	0	0	1	2555	842	30	2		2	CABLES1	18	20837319	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260914	20837319	57239929	12903	36405											
RIOK3	8780	broad.mit.edu	37	chr18	21044578	21044578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtgggagaaagaacacaGcaagaatggaaaatgtaagt	19	7	12	3	0	0	3	0	0	0	3	0	5	0	4	0	2	2	2	0	2	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21044578G>A	ENST00000339486.3	+	5	1146	c.529G>A	c.(529-531)Gca>Aca	p.A177T	RIOK3_ENST00000581585.1_Missense_Mutation_p.A161T|RIOK3_ENST00000577501.1_Missense_Mutation_p.A177T	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	177					chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAAGAACACAGCAAGAATGGA	0.333													A	21044578	G	A	21044578	3	1	364	1	0	0	0	0	1	0	0	0	13470	971	34	2	547	2	RIOK3	18	21044578	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207259	21044578	57032670	12904	36406											
RIOK3	8780	broad.mit.edu	37	chr18	21053408	21053408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttagcatggaggatgaaaaGgaagatagtaaagttatacc	17	9	11	4	0	0	2	0	1	0	1	0	5	0	5	1	3	2	3	1	3	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21053408G>T	ENST00000339486.3	+	8	1448	c.831G>T	c.(829-831)aaG>aaT	p.K277N	RIOK3_ENST00000581585.1_Missense_Mutation_p.K261N|RIOK3_ENST00000577501.1_Missense_Mutation_p.K277N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	277	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AGGATGAAAAGGAAGATAGTA	0.308													T	21053408	G	T	21053408	3	4	364	1	0	0	0	0	1	0	0	0	13470	991	35	4	861	4	RIOK3	18	21053408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8830	21053408	57023840	12905	36407											
RIOK3	8780	broad.mit.edu	37	chr18	21054957	21054957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacagttgtactactgaaGaaacacattttagttatgtc	14	13	6	8	0	0	2	0	1	0	1	1	2	0	2	1	0	4	3	1	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21054957G>A	ENST00000339486.3	+	9	1676	c.1059G>A	c.(1057-1059)aaG>aaA	p.K353K	RIOK3_ENST00000581585.1_Silent_p.K337K|RIOK3_ENST00000577501.1_Silent_p.K353K	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	353	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TACTACTGAAGAAACACATTT	0.343													A	21054957	G	A	21054957	2	1	364	1	0	0	0	0	0	0	0	1	13470	933	33	2		2	RIOK3	18	21054957	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1549	21054957	57022291	12906	36408											
C18orf8	29919	broad.mit.edu	37	chr18	21083594	21083594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccgccatgggcgaggaGgactactatctggagctgtg	7	7	16	11	3	1	0	0	0	1	0	1	4	1	3	2	4	2	1	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21083594G>T	ENST00000269221.3	+	1	122	c.12G>T	c.(10-12)gaG>gaT	p.E4D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E4D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	4										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGGGCGAGGAGGACTACTATC	0.716													T	21083594	G	T	21083594	3	4	364	1	0	0	0	0	1	0	0	0	1926	991	35	4	14	4	C18orf8	18	21083594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28637	21083594	56993654	12907	36409											
C18orf8	29919	broad.mit.edu	37	chr18	21095831	21095831	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcaggtattaccagaGaaacggagtctgaaactctt	12	11	9	9	1	3	2	1	1	2	1	3	4	3	3	1	2	4	2	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21095831G>T	ENST00000269221.3	+	6	530	c.420G>T	c.(418-420)gaG>gaT	p.E140D	C18orf8_ENST00000590868.1_Missense_Mutation_p.E92D	NM_013326.3	NP_037458.3	Q96DM3	MIC1_HUMAN	chromosome 18 open reading frame 8	140										endometrium(9)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	21	all_cancers(21;0.000122)|all_epithelial(16;8.08e-07)|Lung NSC(20;0.00206)|all_lung(20;0.00659)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TATTACCAGAGAAACGGAGTC	0.478											OREG0024894	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	21095831	G	T	21095831	3	4	364	1	0	0	0	0	1	0	0	0	1926	933	33	4	442	4	C18orf8	18	21095831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12237	21095831	56981417	12908	36410											
NPC1	4864	broad.mit.edu	37	chr18	21116710	21116710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attactggctataagtcgggCtttcttcagagcgtcaataa	11	13	9	8	2	3	1	2	0	1	1	4	1	3	1	0	2	2	2	0	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21116710C>T	ENST00000269228.5	-	21	3726	c.3172G>A	c.(3172-3174)Gcc>Acc	p.A1058T	NPC1_ENST00000412552.2_Missense_Mutation_p.A740T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1058					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ATAAGTCGGGCTTTCTTCAGA	0.522													T	21116710	C	T	21116710	3	4	364	1	0	0	0	0	1	0	0	0	10646	797	28	2	684	2	NPC1	18	21116710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20879	21116710	56960538	12909	36411											
ANKRD29	147463	broad.mit.edu	37	chr18	21209871	21209871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtaatcgaataacatcCaagtaaccaccttgggcagc	15	7	8	11	1	0	0	0	0	0	0	2	1	1	0	3	1	4	4	3	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21209871C>A	ENST00000592179.1	-	6	628	c.474G>T	c.(472-474)ttG>ttT	p.L158F	ANKRD29_ENST00000284207.7_Missense_Mutation_p.L158F|ANKRD29_ENST00000322980.9_Missense_Mutation_p.L158F	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	158										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GAATAACATCCAAGTAACCAC	0.453													A	21209871	C	A	21209871	3	1	364	1	0	0	0	0	1	0	0	0	657	593	21	4	451	4	ANKRD29	18	21209871	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93161	21209871	56867377	12910	36412											
LAMA3	3909	broad.mit.edu	37	chr18	21487720	21487720	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctatctgtgtgtgcattagGtgatattgatgctatgatca	9	16	10	6	0	2	3	1	3	1	0	2	3	2	3	1	1	2	2	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21487720G>A	ENST00000313654.9	+	54	7077	c.6836G>A	c.(6835-6837)gGt>gAt	p.G2279D	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.G614D|LAMA3_ENST00000399516.3_Splice_Site_p.G2223D|LAMA3_ENST00000269217.6_Splice_Site_p.G670D	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2279	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGTGCATTAGGTGATATTGAT	0.443													A	21487720	G	A	21487720	5	1	364	1	0	0	0	0	0	0	1	0	8666	1275	44	2	7225	2	LAMA3	18	21487720	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	277849	21487720	56589528	12911	36413											
LAMA3	3909	broad.mit.edu	37	chr18	21492725	21492725	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagtcgaagtccgactGccaaatgacctggaagattt	11	10	11	9	2	1	2	0	1	1	1	3	6	2	4	3	2	1	0	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21492725G>A	ENST00000313654.9	+	56	7450	c.7209G>A	c.(7207-7209)ctG>ctA	p.L2403L	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Silent_p.L738L|LAMA3_ENST00000399516.3_Silent_p.L2347L|LAMA3_ENST00000269217.6_Silent_p.L794L	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2403	Laminin G-like 1.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AAGTCCGACTGCCAAATGACC	0.438													A	21492725	G	A	21492725	2	1	364	1	0	0	0	0	0	0	0	1	8666	1306	46	2		2	LAMA3	18	21492725	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5005	21492725	56584523	12912	36414											
LAMA3	3909	broad.mit.edu	37	chr18	21508203	21508203	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtgctcggaagactggaAggtaagtgaaagttcagaac	16	7	13	5	1	1	3	1	1	0	2	2	5	1	5	0	3	2	3	0	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21508203A>G	ENST00000313654.9	+	63	8535	c.8294A>G	c.(8293-8295)aAg>aGg	p.K2765R	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Splice_Site_p.K1100R|LAMA3_ENST00000399516.3_Splice_Site_p.K2709R|LAMA3_ENST00000269217.6_Splice_Site_p.K1156R	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2765					cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAAGACTGGAAGGTAAGTGAA	0.453													G	21508203	A	G	21508203	5	3	364	1	0	0	0	0	0	0	1	0	8666	86	3	3	8719	3	LAMA3	18	21508203	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15478	21508203	56569045	12913	36415											
CABYR	26256	broad.mit.edu	37	chr18	21739839	21739839	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accctaagtccccagaatgcTaatcctccaagtggacaaga	14	7	7	13	0	0	2	0	0	0	2	3	3	3	3	5	1	1	1	5	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21739839T>C	ENST00000399496.3	+	5	1110	c.945T>C	c.(943-945)gcT>gcC	p.A315A	CABYR_ENST00000415309.2_Intron|CABYR_ENST00000399499.1_Silent_p.A315A|CABYR_ENST00000327201.6_Silent_p.A217A|CABYR_ENST00000581397.1_Silent_p.A315A|RP11-799B12.4_ENST00000583267.1_lincRNA	NM_012189.2|NM_153769.1	NP_036321.2|NP_722453.1	O75952	CABYR_HUMAN	calcium binding tyrosine-(Y)-phosphorylation regulated	0					ciliary or flagellar motility|signal transduction|sperm capacitation	cytoplasm|cytoskeleton|flagellum|motile cilium|nucleus	calcium ion binding|cAMP-dependent protein kinase regulator activity|enzyme binding|protein heterodimerization activity|SH3 domain binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)	11	all_cancers(21;9.13e-05)|all_epithelial(16;5.49e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0305)|Ovarian(20;0.17)					CCCAGAATGCTAATCCTCCAA	0.438													C	21739839	T	C	21739839	2	2	364	1	0	0	0	0	0	0	0	1	2562	1509	53	3		3	CABYR	18	21739839	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	231636	21739839	56337409	12914	36416											
OSBPL1A	114876	broad.mit.edu	37	chr18	21745032	21745032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgactcaggcacgcacctcGtcttccagtcctcttctgac	6	11	7	17	2	4	2	1	2	3	0	7	2	6	2	3	1	0	2	3	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21745032G>A	ENST00000319481.3	-	27	2953	c.2747C>T	c.(2746-2748)aCg>aTg	p.T916M	OSBPL1A_ENST00000357041.4_Missense_Mutation_p.T534M|OSBPL1A_ENST00000399443.3_Missense_Mutation_p.T403M	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	916					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					CACGCACCTCGTCTTCCAGTC	0.532													A	21745032	G	A	21745032	3	1	364	1	0	0	0	0	1	0	0	0	11353	1145	40	1	113	1	OSBPL1A	18	21745032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5193	21745032	56332216	12915	36417											
OSBPL1A	114876	broad.mit.edu	37	chr18	21946860	21946860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagaatgattttcacctttCgtcctgtaaaggcagctcga	11	13	8	9	2	1	2	1	1	0	1	4	3	2	2	2	1	1	3	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21946860C>T	ENST00000319481.3	-	4	484	c.278G>A	c.(277-279)cGa>cAa	p.R93Q	OSBPL1A_ENST00000399441.4_Missense_Mutation_p.R93Q|RP11-621L6.2_ENST00000579347.1_RNA|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	93					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					TTTCACCTTTCGTCCTGTAAA	0.418													T	21946860	C	T	21946860	3	4	364	1	0	0	0	0	1	0	0	0	11353	884	31	1	2674	1	OSBPL1A	18	21946860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201828	21946860	56130388	12916	36418											
OSBPL1A	114876	broad.mit.edu	37	chr18	21957415	21957415	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacttcattcctcgccAtggtctctaatagttgtctt	8	16	5	12	1	4	0	2	0	2	0	7	0	5	0	2	1	0	1	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:21957415A>G	ENST00000319481.3	-	2	289	c.83T>C	c.(82-84)aTg>aCg	p.M28T	OSBPL1A_ENST00000399441.4_Missense_Mutation_p.M28T|OSBPL1A_ENST00000582618.1_5'UTR	NM_080597.3	NP_542164.2	Q9BXW6	OSBL1_HUMAN	oxysterol binding protein-like 1A	28					cholesterol metabolic process|lipid transport|vesicle-mediated transport		phospholipid binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	36	all_cancers(21;0.000396)|all_epithelial(16;4.36e-06)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0505)|Ovarian(20;0.17)					ATTCCTCGCCATGGTCTCTAA	0.373													G	21957415	A	G	21957415	3	3	364	1	0	0	0	0	1	0	0	0	11353	217	8	3	2877	3	OSBPL1A	18	21957415	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10555	21957415	56119833	12917	36419											
IMPACT	55364	broad.mit.edu	37	chr18	22020582	22020582	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatcagtgaaactcggacaGgtataatgttactaactaat	16	12	7	6	1	1	1	1	1	0	0	2	2	1	2	0	2	3	2	0	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22020582G>T	ENST00000284202.4	+	6	631	c.490G>T	c.(490-492)Gaa>Taa	p.E164*		NM_018439.3	NP_060909	Q9P2X3	IMPCT_HUMAN	impact RWD domain protein	164										endometrium(1)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(2)	16	all_cancers(21;0.00018)|all_epithelial(16;1.5e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)					AACTCGGACAGGTATAATGTT	0.343													T	22020582	G	T	22020582	5	4	364	1	0	0	0	0	0	0	1	0	7782	1014	35	4	512	4	IMPACT	18	22020582	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63167	22020582	56056666	12918	36420											
ZNF521	25925	broad.mit.edu	37	chr18	22805397	22805397	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatacacagtgtttttctcGcaagtgtttttctaacaaaa	13	15	6	7	1	2	0	0	0	2	0	3	1	2	0	0	0	2	3	0	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:22805397G>A	ENST00000361524.3	-	4	2633	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	ZNF521_ENST00000584787.1_Nonsense_Mutation_p.R609*|ZNF521_ENST00000538137.2_Nonsense_Mutation_p.R829*	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	829					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					TGTTTTTCTCGCAAGTGTTTT	0.458			T	PAX5	ALL								A	22805397	G	A	22805397	4	1	364	1	0	0	0	0	0	1	0	0	18066	1095	38	1	1470	1	ZNF521	18	22805397	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784815	22805397	55271851	12919	36421											
TAF4B	6875	broad.mit.edu	37	chr18	23847570	23847570	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtaaccactgttccgAagccttcctcagtacaagta	10	11	8	12	1	1	0	1	0	0	0	3	1	3	0	4	1	3	4	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23847570A>G	ENST00000269142.5	+	3	1578	c.580A>G	c.(580-582)Aag>Gag	p.K194E	TAF4B_ENST00000400466.2_Missense_Mutation_p.K194E|TAF4B_ENST00000578121.1_Missense_Mutation_p.K194E	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	194					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			CACTGTTCCGAAGCCTTCCTC	0.393													G	23847570	A	G	23847570	3	3	364	1	0	0	0	0	1	0	0	0	15624	247	9	3	590	3	TAF4B	18	23847570	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1042173	23847570	54229678	12920	36422											
TAF4B	6875	broad.mit.edu	37	chr18	23866114	23866114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagttgtgacacttcattCtgtgggcccaactgctgcaa	8	12	11	10	0	2	1	1	1	1	0	2	2	2	2	1	2	3	3	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:23866114C>T	ENST00000269142.5	+	7	2239	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	TAF4B_ENST00000400466.2_Missense_Mutation_p.S414F|TAF4B_ENST00000578121.1_Missense_Mutation_p.S414F	NM_005640.1	NP_005631.1	Q92750	TAF4B_HUMAN	TAF4b RNA polymerase II, TATA box binding protein (TBP)-associated factor, 105kDa	414					transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleolus|transcription factor TFIID complex	DNA binding|NF-kappaB binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|prostate(1)|skin(1)	29	all_cancers(21;0.00151)|Lung NSC(5;0.000401)|all_lung(6;0.00115)|Ovarian(20;0.124)		Epithelial(2;9.57e-07)|all cancers(3;5.15e-06)|OV - Ovarian serous cystadenocarcinoma(3;1.96e-05)|LUSC - Lung squamous cell carcinoma(2;0.00594)|Lung(2;0.0267)			ACACTTCATTCTGTGGGCCCA	0.498													T	23866114	C	T	23866114	3	4	364	1	0	0	0	0	1	0	0	0	15624	913	32	2	1267	2	TAF4B	18	23866114	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18544	23866114	54211134	12921	36423											
AQP4	361	broad.mit.edu	37	chr18	24436260	24436260	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatcacatgcaccactccaGgttttagaatcaggtcatcc	12	10	6	13	0	3	1	3	0	0	1	5	1	5	1	3	2	1	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436260G>T	ENST00000383168.4	-	5	1015	c.887C>A	c.(886-888)cCt>cAt	p.P296H	AQP4_ENST00000440832.3_Missense_Mutation_p.P274H|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.P274H	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	296				P -> L (in Ref. 1; AAC52112).	cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					CACCACTCCAGGTTTTAGAAT	0.488													T	24436260	G	T	24436260	3	4	364	1	0	0	0	0	1	0	0	0	831	1000	35	4	88	4	AQP4	18	24436260	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	570146	24436260	53640988	12922	36424											
AQP4	361	broad.mit.edu	37	chr18	24436384	24436384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgtttgaattcaacatCtggacagaagacatactcat	15	10	7	9	2	3	3	2	1	1	2	3	5	3	4	0	1	2	1	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24436384C>A	ENST00000383168.4	-	5	891	c.763G>T	c.(763-765)Gat>Tat	p.D255Y	AQP4_ENST00000440832.3_Missense_Mutation_p.D233Y|AQP4_ENST00000583022.1_5'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.D233Y	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	255					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					AATTCAACATCTGGACAGAAG	0.458													A	24436384	C	A	24436384	3	1	364	1	0	0	0	0	1	0	0	0	831	913	32	4	212	4	AQP4	18	24436384	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124	24436384	53640864	12923	36425											
CHST9	83539	broad.mit.edu	37	chr18	24497012	24497012	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcttgcaaaactcctgaagGaaagaccttcgtttctcttg	10	14	7	10	1	2	2	0	1	2	1	5	3	3	3	2	1	2	2	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:24497012G>A	ENST00000284224.8	-	6	820	c.543C>T	c.(541-543)ttC>ttT	p.F181F	CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000578701.1_RNA|CHST9_ENST00000581714.1_Silent_p.F181F|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	181					carbohydrate biosynthetic process|glycosaminoglycan metabolic process|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	extracellular region|Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					ACTCCTGAAGGAAAGACCTTC	0.373													A	24497012	G	A	24497012	2	1	364	1	0	0	0	0	0	0	0	1	3441	1165	41	2		2	CHST9	18	24497012	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60628	24497012	53580236	12924	36426											
CDH2	1000	broad.mit.edu	37	chr18	25565020	25565020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaccggtgccaagccccGcacccacaatcctgtccaca	9	5	8	19	2	0	0	0	0	0	0	2	0	2	0	7	2	2	2	7	2	2	0	rs140836073		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25565020G>A	ENST00000269141.3	-	13	2576	c.2153C>T	c.(2152-2154)gCg>gTg	p.A718V	CDH2_ENST00000399380.3_Missense_Mutation_p.A687V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	718					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GCCAAGCCCCGCACCCACAAT	0.493													A	25565020	G	A	25565020	3	1	364	1	0	0	0	0	1	0	0	0	3135	1087	38	1	583	1	CDH2	18	25565020	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1068008	25565020	52512228	12925	36427											
CDH2	1000	broad.mit.edu	37	chr18	25572622	25572622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccgaggaacacttactttGaccacggtgactaacccgtc	10	8	9	14	3	0	2	0	2	0	0	1	4	0	3	3	2	3	0	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25572622G>A	ENST00000269141.3	-	9	1764	c.1341C>T	c.(1339-1341)gtC>gtT	p.V447V	CDH2_ENST00000399380.3_Silent_p.V416V	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	447	Cadherin 3.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CACTTACTTTGACCACGGTGA	0.527													A	25572622	G	A	25572622	2	1	364	1	0	0	0	0	0	0	0	1	3135	1277	45	2		2	CDH2	18	25572622	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7602	25572622	52504626	12926	36428											
CDH2	1000	broad.mit.edu	37	chr18	25583001	25583001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgtgatgatgtcaccaGtctcattgttgattgtaaac	10	14	8	9	0	2	3	2	3	1	0	3	3	2	3	2	0	1	2	2	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25583001G>A	ENST00000269141.3	-	7	1403	c.980C>T	c.(979-981)aCt>aTt	p.T327I	CDH2_ENST00000399380.3_Missense_Mutation_p.T296I	NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	327	Cadherin 2.				adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						GATGTCACCAGTCTCATTGTT	0.438													A	25583001	G	A	25583001	3	1	364	1	0	0	0	0	1	0	0	0	3135	1029	36	2	1780	2	CDH2	18	25583001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10379	25583001	52494247	12927	36429											
CDH2	1000	broad.mit.edu	37	chr18	25727734	25727734	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cataatgcgatttcaccagaAgcctctacagacgcctgcaa	13	8	7	13	2	2	2	1	0	1	2	2	3	2	2	3	0	4	1	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:25727734A>T	ENST00000269141.3	-	2	498	c.75T>A	c.(73-75)gcT>gcA	p.A25A		NM_001792.3	NP_001783.2	P19022	CADH2_HUMAN	cadherin 2, type 1, N-cadherin (neuronal)	25					adherens junction organization|cell junction assembly|positive regulation of muscle cell differentiation	catenin complex|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|gamma-catenin binding			NS(1)|breast(5)|cervix(2)|endometrium(7)|kidney(3)|large_intestine(22)|lung(32)|ovary(4)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						TTTCACCAGAAGCCTCTACAG	0.418													T	25727734	A	T	25727734	2	4	364	1	0	0	0	0	0	0	0	1	3135	59	3	5		5	CDH2	18	25727734	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	144733	25727734	52349514	12928	36430											
DSC3	1825	broad.mit.edu	37	chr18	28576966	28576966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccatagtaccacaaaaacCttggctagagttgttggtag	12	11	9	9	0	0	1	0	0	0	1	1	1	1	1	3	2	2	5	3	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28576966C>A	ENST00000434452.1	-	15	2438	c.2284G>T	c.(2284-2286)Ggt>Tgt	p.G762C	DSC3_ENST00000360428.4_Missense_Mutation_p.G762C	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	762					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCACAAAAACCTTGGCTAGAG	0.413													A	28576966	C	A	28576966	3	1	364	1	0	0	0	0	1	0	0	0	4806	681	24	4	445	4	DSC3	18	28576966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2849232	28576966	49500282	12929	36431											
DSC3	1825	broad.mit.edu	37	chr18	28584320	28584320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttctgatatgaaagaCgggcagctgtatctgaaaga	13	12	10	6	1	2	5	0	3	2	2	2	5	2	5	0	1	1	3	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28584320C>T	ENST00000434452.1	-	13	2055	c.1901G>A	c.(1900-1902)cGt>cAt	p.R634H	DSC3_ENST00000360428.4_Missense_Mutation_p.R634H	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	634	Cadherin 5.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			ATATGAAAGACGGGCAGCTGT	0.343													T	28584320	C	T	28584320	3	4	364	1	0	0	0	0	1	0	0	0	4806	536	19	1	836	1	DSC3	18	28584320	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7354	28584320	49492928	12930	36432											
DSC3	1825	broad.mit.edu	37	chr18	28588261	28588261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattgccatttctattttcGgggtcatatgccttatagcc	7	16	7	11	1	2	0	1	0	1	0	3	0	2	0	4	2	3	0	4	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588261G>A	ENST00000434452.1	-	10	1648	c.1494C>T	c.(1492-1494)ccC>ccT	p.P498P	DSC3_ENST00000360428.4_Silent_p.P498P	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	498	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTATTTTCGGGGTCATATG	0.363													A	28588261	G	A	28588261	2	1	364	1	0	0	0	0	0	0	0	1	4806	1103	39	1		1	DSC3	18	28588261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3941	28588261	49488987	12931	36433											
DSC3	1825	broad.mit.edu	37	chr18	28588282	28588282	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtcatatgccttatagccGttgatctttgaccccactgc	7	13	9	12	1	2	2	1	2	1	0	2	2	2	2	4	1	3	1	4	1	3	5	rs138254140		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28588282G>A	ENST00000434452.1	-	10	1627	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	DSC3_ENST00000360428.4_Silent_p.N491N	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	491	Cadherin 4.				homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding	p.N491N(2)		endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCTTATAGCCGTTGATCTTTG	0.388													A	28588282	G	A	28588282	2	1	364	1	0	0	0	0	0	0	0	1	4806	1136	40	1		1	DSC3	18	28588282	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	28588282	49488966	12932	36434											
DSC1	1823	broad.mit.edu	37	chr18	28720060	28720060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctttgtatccaaggagttCttggccagctgggaagccat	8	12	12	9	0	1	0	0	0	1	0	2	2	2	2	3	3	3	4	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28720060C>T	ENST00000257197.3	-	10	1726	c.1465G>A	c.(1465-1467)Gaa>Aaa	p.E489K	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.E489K	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	489	Cadherin 4.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding	p.E489*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			CCAAGGAGTTCTTGGCCAGCT	0.428													T	28720060	C	T	28720060	3	4	364	1	0	0	0	0	1	0	0	0	4804	922	32	2	1287	2	DSC1	18	28720060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	131778	28720060	49357188	12933	36435											
DSC1	1823	broad.mit.edu	37	chr18	28725648	28725648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaatgctttggatgatCtgggatttgttgtaagattt	10	16	13	2	0	1	3	0	1	1	2	1	6	1	5	0	3	1	3	0	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28725648C>A	ENST00000257197.3	-	7	1126	c.865G>T	c.(865-867)Gat>Tat	p.D289Y	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Missense_Mutation_p.D289Y	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	289	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TTTGGATGATCTGGGATTTGT	0.408													A	28725648	C	A	28725648	3	1	364	1	0	0	0	0	1	0	0	0	4804	913	32	4	1899	4	DSC1	18	28725648	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5588	28725648	49351600	12934	36436											
DSG1	1828	broad.mit.edu	37	chr18	28935225	28935225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttcctctgaccatcaCtttaaccaaaccattgggtc	11	11	7	12	0	2	1	1	1	1	0	4	2	3	2	4	2	2	1	4	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28935225C>T	ENST00000257192.4	+	15	3278	c.3066C>T	c.(3064-3066)caC>caT	p.H1022H	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.H381H|RP11-534N16.1_ENST00000581452.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	1022					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding	p.H1022H(1)		NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CTGACCATCACTTTAACCAAA	0.542													T	28935225	C	T	28935225	2	4	364	1	0	0	0	0	0	0	0	1	4815	564	20	2		2	DSG1	18	28935225	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209577	28935225	49142023	12935	36437											
DSG4	147409	broad.mit.edu	37	chr18	28993015	28993015	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatttccttcacaccaggcTtgtataccaatcagtactga	11	12	5	13	0	2	1	2	1	0	0	3	1	3	1	4	1	2	3	4	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:28993015T>G	ENST00000359747.4	+	15	2666	c.2637T>G	c.(2635-2637)gcT>gcG	p.A879A	RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG4_ENST00000308128.4_Silent_p.A860A	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	860					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CACACCAGGCTTGTATACCAA	0.388													G	28993015	T	G	28993015	2	3	364	1	0	0	0	0	0	0	0	1	4818	1596	56	5		5	DSG4	18	28993015	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57790	28993015	49084233	12936	36438											
DSG2	1829	broad.mit.edu	37	chr18	29104816	29104816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttccacatagaaacagatGctcaaactaacgaaggaatt	18	9	6	8	1	1	2	1	0	0	2	2	4	2	3	1	1	4	1	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29104816G>A	ENST00000261590.8	+	8	1188	c.979G>A	c.(979-981)Gct>Act	p.A327T		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	327	Cadherin 3.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			AGAAACAGATGCTCAAACTAA	0.368													A	29104816	G	A	29104816	3	1	364	1	0	0	0	0	1	0	0	0	4816	1319	46	2	1009	2	DSG2	18	29104816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111801	29104816	48972432	12937	36439											
B4GALT6	9331	broad.mit.edu	37	chr18	29205652	29205652	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaacctatcaaccagtatTtttggcctatatattaaatt	14	16	3	8	0	1	0	1	0	0	0	1	0	1	0	3	1	3	1	3	1	10	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29205652T>G	ENST00000306851.5	-	9	1370	c.1074A>C	c.(1072-1074)aaA>aaC	p.K358N	B4GALT6_ENST00000237019.7_Missense_Mutation_p.K319N|B4GALT6_ENST00000383131.3_Missense_Mutation_p.K319N	NM_004775.3	NP_004766.2	Q9UBX8	B4GT6_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 6	358					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(6)|pancreas(1)	20			OV - Ovarian serous cystadenocarcinoma(10;0.00791)			CAACCAGTATTTTTGGCCTAT	0.353													G	29205652	T	G	29205652	3	3	364	1	0	0	0	0	1	0	0	0	1280	1838	64	5	78	5	B4GALT6	18	29205652	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	100836	29205652	48871596	12938	36440											
RNF138	51444	broad.mit.edu	37	chr18	29691857	29691857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tataatgaggaagttttctgGtagctgcagatgctgtgcaa	11	13	12	5	0	1	2	0	1	1	1	1	3	1	3	0	2	4	6	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29691857G>A	ENST00000261593.3	+	3	709	c.251G>A	c.(250-252)gGt>gAt	p.G84D	RNF138_ENST00000585103.1_Intron|RNF138_ENST00000257190.5_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	84					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						AAGTTTTCTGGTAGCTGCAGA	0.413													A	29691857	G	A	29691857	3	1	364	1	0	0	0	0	1	0	0	0	13532	1261	44	2	257	2	RNF138	18	29691857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	486205	29691857	48385391	12939	36441											
MEP1B	4225	broad.mit.edu	37	chr18	29793158	29793158	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtggtgtttgaaggacgCaaaggctctggtgcatcact	10	10	14	7	1	2	2	1	1	1	1	2	3	2	3	0	4	1	4	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:29793158C>T	ENST00000269202.6	+	11	1262	c.1215C>T	c.(1213-1215)cgC>cgT	p.R405R	MEP1B_ENST00000581447.1_Silent_p.R405R	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	405	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TTGAAGGACGCAAAGGCTCTG	0.423													T	29793158	C	T	29793158	2	4	364	1	0	0	0	0	0	0	0	1	9551	697	25	2		2	MEP1B	18	29793158	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101301	29793158	48284090	12940	36442											
KLHL14	57565	broad.mit.edu	37	chr18	30254669	30254669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaataactgtcacacaggcaGggcctgccaacggttctgct	10	8	11	12	1	2	0	1	0	1	0	2	1	2	0	2	3	4	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30254669G>T	ENST00000359358.4	-	9	2276	c.1838C>A	c.(1837-1839)cCt>cAt	p.P613H		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	613						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						CACACAGGCAGGGCCTGCCAA	0.463													T	30254669	G	T	30254669	3	4	364	1	0	0	0	0	1	0	0	0	8428	1000	35	4	52	4	KLHL14	18	30254669	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	461511	30254669	47822579	12941	36443											
KLHL14	57565	broad.mit.edu	37	chr18	30260222	30260222	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgttcatatcttgttttcGagcccagacatccattactg	8	16	7	10	1	2	1	1	0	1	1	4	2	3	1	2	0	2	2	2	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260222G>A	ENST00000359358.4	-	7	1936	c.1498C>T	c.(1498-1500)Cga>Tga	p.R500*		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	500						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						TCTTGTTTTCGAGCCCAGACA	0.383													A	30260222	G	A	30260222	4	1	364	1	0	0	0	0	0	1	0	0	8428	1066	37	1	400	1	KLHL14	18	30260222	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5553	30260222	47817026	12942	36444											
KLHL14	57565	broad.mit.edu	37	chr18	30260482	30260482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggttatagcactccacgCtggacaagtagccagtttca	11	10	9	11	1	1	0	1	0	0	0	2	1	2	1	2	2	2	5	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:30260482C>A	ENST00000359358.4	-	6	1757	c.1319G>T	c.(1318-1320)aGc>aTc	p.S440I		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	440						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCACTCCACGCTGGACAAGTA	0.473													A	30260482	C	A	30260482	3	1	364	1	0	0	0	0	1	0	0	0	8428	797	28	4	583	4	KLHL14	18	30260482	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	260	30260482	47816766	12943	36445											
ASXL3	80816	broad.mit.edu	37	chr18	31320060	31320060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataataagggaaatgagcttCcatctgctaaattacaggac	16	10	8	7	0	1	1	0	1	1	0	2	3	2	3	1	2	3	2	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31320060C>T	ENST00000269197.5	+	11	2692	c.2692C>T	c.(2692-2694)Cca>Tca	p.P898S		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AAATGAGCTTCCATCTGCTAA	0.373													T	31320060	C	T	31320060	3	4	364	1	0	0	0	0	1	0	0	0	1073	855	30	2	2734	2	ASXL3	18	31320060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1059578	31320060	46757188	12944	36446											
ASXL3	80816	broad.mit.edu	37	chr18	31325549	31325549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagcagaacctatttcatGttgacaagaatggcggcttc	11	11	9	10	1	1	3	1	1	0	2	3	3	2	3	2	2	2	3	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31325549G>A	ENST00000269197.5	+	12	5737	c.5737G>A	c.(5737-5739)Gtt>Att	p.V1913I		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1913					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						CCTATTTCATGTTGACAAGAA	0.527													A	31325549	G	A	31325549	3	1	364	1	0	0	0	0	1	0	0	0	1073	1377	48	2	5783	2	ASXL3	18	31325549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5489	31325549	46751699	12945	36447											
NOL4	8715	broad.mit.edu	37	chr18	31684026	31684026	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacctcatcttgctgtgaGtttagcagctgcagcttcat	7	16	8	10	0	3	1	2	1	1	0	3	1	3	1	1	0	6	6	1	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31684026G>A	ENST00000261592.5	-	4	921	c.624C>T	c.(622-624)aaC>aaT	p.N208N	NOL4_ENST00000269185.4_Silent_p.N94N|NOL4_ENST00000589544.1_Silent_p.N208N|NOL4_ENST00000538587.1_Silent_p.N134N|NOL4_ENST00000535475.1_Silent_p.N53N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	208						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTTGCTGTGAGTTTAGCAGCT	0.383													A	31684026	G	A	31684026	2	1	364	1	0	0	0	0	0	0	0	1	10600	1020	36	2		2	NOL4	18	31684026	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358477	31684026	46393222	12946	36448											
NOL4	8715	broad.mit.edu	37	chr18	31685089	31685089	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattagaaatcgtgtcacCgcttctcttggtaggaaggc	9	12	10	10	2	3	1	2	0	1	1	5	2	3	2	1	3	0	2	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:31685089C>T	ENST00000261592.5	-	3	747	c.450G>A	c.(448-450)gcG>gcA	p.A150A	NOL4_ENST00000269185.4_Silent_p.A36A|NOL4_ENST00000589544.1_Silent_p.A150A|NOL4_ENST00000538587.1_Silent_p.A76A|NOL4_ENST00000535475.1_5'UTR	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	150						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						ATCGTGTCACCGCTTCTCTTG	0.393													T	31685089	C	T	31685089	2	4	364	1	0	0	0	0	0	0	0	1	10600	639	23	1		1	NOL4	18	31685089	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1063	31685089	46392159	12947	36449											
DTNA	1837	broad.mit.edu	37	chr18	32345949	32345949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagatctggatcgcatccGactctccacctacagaacag	12	8	7	14	2	3	2	1	0	2	2	6	4	4	3	3	1	2	1	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32345949G>A	ENST00000283365.9	+	4	443	c.92G>A	c.(91-93)cGa>cAa	p.R31Q	DTNA_ENST00000554864.3_Missense_Mutation_p.R31Q|DTNA_ENST00000598334.1_Missense_Mutation_p.R31Q|DTNA_ENST00000598774.1_Missense_Mutation_p.R31Q|DTNA_ENST00000595022.1_Missense_Mutation_p.R31Q|DTNA_ENST00000598142.1_Missense_Mutation_p.R31Q|DTNA_ENST00000399097.3_5'UTR|DTNA_ENST00000269190.7_Missense_Mutation_p.R31Q|DTNA_ENST00000348997.5_Missense_Mutation_p.R31Q|RP11-138H11.1_ENST00000596954.1_RNA|DTNA_ENST00000399121.5_Missense_Mutation_p.R31Q|DTNA_ENST00000269191.6_Missense_Mutation_p.R31Q|DTNA_ENST00000444659.1_Missense_Mutation_p.R31Q|DTNA_ENST00000315456.6_Missense_Mutation_p.R31Q|DTNA_ENST00000399113.3_Missense_Mutation_p.R31Q|DTNA_ENST00000597599.1_Missense_Mutation_p.R31Q|DTNA_ENST00000596745.1_Missense_Mutation_p.R31Q	NM_032975.3	NP_116757.2	Q9Y4J8	DTNA_HUMAN	dystrobrevin, alpha	31	Interaction with MAGEE1 (By similarity).				neuromuscular synaptic transmission|signal transduction|striated muscle contraction	cell junction|cytoplasm|synapse	calcium ion binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(2)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	29						GATCGCATCCGACTCTCCACC	0.403													A	32345949	G	A	32345949	3	1	364	1	0	0	0	0	1	0	0	0	4827	1058	37	1	98	1	DTNA	18	32345949	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	660860	32345949	45731299	12948	36450											
ZNF24	7572	broad.mit.edu	37	chr18	32919925	32919925	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagtacttcccgttttcGtcgacggagagaaacctgga	10	11	10	10	4	0	1	0	0	0	1	3	5	1	3	2	2	3	2	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:32919925G>A	ENST00000589881.1	-	2	439	c.436C>T	c.(436-438)Cga>Tga	p.R146*	ZNF24_ENST00000261332.6_Nonsense_Mutation_p.R146*|ZNF24_ENST00000399061.3_Nonsense_Mutation_p.R146*			P17028	ZNF24_HUMAN	zinc finger protein 24	146					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						TCCCGTTTTCGTCGACGGAGA	0.428													A	32919925	G	A	32919925	4	1	364	1	0	0	0	0	0	1	0	0	17893	1153	40	1	678	1	ZNF24	18	32919925	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	573976	32919925	45157323	12949	36451											
INO80C	125476	broad.mit.edu	37	chr18	33060526	33060526	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatggcttccatgctgataCccttaaaacataataaaaat	16	12	4	9	0	1	1	1	1	0	0	2	1	2	1	2	1	3	2	2	1	7	5	rs150273392	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33060526C>T	ENST00000592173.1	-	2	216	c.158G>A	c.(157-159)gGt>gAt	p.G53D	INO80C_ENST00000586489.1_5'UTR|INO80C_ENST00000334598.7_Splice_Site_p.G53D|RP11-322E11.6_ENST00000589258.1_Intron|INO80C_ENST00000590757.1_Intron|INO80C_ENST00000441607.2_Splice_Site_p.G89D			Q6PI98	IN80C_HUMAN	INO80 complex subunit C	53					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|MLL1 complex				central_nervous_system(1)|endometrium(1)|lung(3)|prostate(2)|skin(1)	8						CATGCTGATACCCTTAAAACA	0.448													T	33060526	C	T	33060526	5	4	364	1	0	0	0	0	0	0	1	0	7806	521	18	2	436	2	INO80C	18	33060526	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140601	33060526	45016722	12950	36452											
C18orf21	83608	broad.mit.edu	37	chr18	33557432	33557432	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtaaaagtagaagcttTgtgtcaacattgaagagcaa	16	10	10	5	0	1	3	1	1	0	2	1	3	1	3	0	1	3	4	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33557432T>C	ENST00000592875.1	+	4	1006	c.360T>C	c.(358-360)ttT>ttC	p.F120F	C18orf21_ENST00000333234.5_Silent_p.F32F	NM_031446.4	NP_113634.3	Q32NC0	CR021_HUMAN	chromosome 18 open reading frame 21	120										endometrium(1)|kidney(1)|large_intestine(1)|skin(2)	5						GTAGAAGCTTTGTGTCAACAT	0.393													C	33557432	T	C	33557432	2	2	364	1	0	0	0	0	0	0	0	1	1915	1809	63	3		3	C18orf21	18	33557432	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	496906	33557432	44519816	12951	36453											
SLC39A6	25800	broad.mit.edu	37	chr18	33704581	33704581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggttgatgatggctggaCagagatagttgaactctgtt	9	15	13	4	0	1	4	0	3	1	1	1	6	1	5	0	3	1	4	0	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33704581C>T	ENST00000269187.5	-	3	1085	c.872G>A	c.(871-873)tGt>tAt	p.C291Y	SLC39A6_ENST00000590986.1_Missense_Mutation_p.C291Y|SLC39A6_ENST00000440549.2_Missense_Mutation_p.C16Y	NM_012319.3	NP_036451	Q13433	S39A6_HUMAN	solute carrier family 39 (zinc transporter), member 6	291						integral to membrane|lamellipodium membrane	zinc ion transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	41						GATGGCTGGACAGAGATAGTT	0.413													T	33704581	C	T	33704581	3	4	364	1	0	0	0	0	1	0	0	0	14716	478	17	2	1439	2	SLC39A6	18	33704581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147149	33704581	44372667	12952	36454											
MOCOS	55034	broad.mit.edu	37	chr18	33795492	33795492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctaggctggtcatgtctGtggggacaatatggacctca	9	11	12	9	0	3	0	2	0	1	0	4	2	4	2	2	5	0	1	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33795492G>A	ENST00000261326.5	+	8	1370	c.1349G>A	c.(1348-1350)tGt>tAt	p.C450Y		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	450					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	GGTCATGTCTGTGGGGACAAT	0.468													A	33795492	G	A	33795492	3	1	364	1	0	0	0	0	1	0	0	0	9765	1377	48	2	1379	2	MOCOS	18	33795492	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90911	33795492	44281756	12953	36455											
MOCOS	55034	broad.mit.edu	37	chr18	33800180	33800180	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatggtcatcaaagccaaaGgtgggaaaactgcttcattt	13	11	9	8	0	4	0	4	0	0	0	4	1	4	1	1	3	3	1	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:33800180G>A	ENST00000261326.5	+	9	1981	c.1960G>A	c.(1960-1962)Ggg>Agg	p.G654R		NM_017947.2	NP_060417.2	Q96EN8	MOCOS_HUMAN	molybdenum cofactor sulfurase	654					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	lyase activity|Mo-molybdopterin cofactor sulfurase activity|molybdenum ion binding|pyridoxal phosphate binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|liver(1)|lung(15)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	43					Pyridoxal Phosphate(DB00114)	CAAAGCCAAAGGTGGGAAAAC	0.478													A	33800180	G	A	33800180	5	1	364	1	0	0	0	0	0	0	1	0	9765	1014	35	2	1994	2	MOCOS	18	33800180	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4688	33800180	44277068	12954	36456											
FHOD3	80206	broad.mit.edu	37	chr18	34092484	34092484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagctgaggctgatcagaaCtatcagaactacatcttaag	14	9	10	8	0	3	4	2	2	1	2	3	5	3	5	0	2	4	2	0	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34092484C>T	ENST00000257209.4	+	5	611	c.489C>T	c.(487-489)aaC>aaT	p.N163N	FHOD3_ENST00000445677.1_Silent_p.N163N|FHOD3_ENST00000359247.4_Silent_p.N163N|FHOD3_ENST00000590592.1_Silent_p.N163N	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	163	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CTGATCAGAACTATCAGAACT	0.493													T	34092484	C	T	34092484	2	4	364	1	0	0	0	0	0	0	0	1	5932	564	20	2		2	FHOD3	18	34092484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	292304	34092484	43984764	12955	36457											
FHOD3	80206	broad.mit.edu	37	chr18	34310638	34310638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatggaaaaaggcaagaGatcattgttctggattccaa	15	9	11	6	0	2	2	1	0	1	2	3	5	3	4	1	3	0	3	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34310638G>T	ENST00000257209.4	+	17	3044	c.2922G>T	c.(2920-2922)gaG>gaT	p.E974D	FHOD3_ENST00000592128.1_5'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.E936D|FHOD3_ENST00000359247.4_Missense_Mutation_p.E957D|FHOD3_ENST00000590592.1_Missense_Mutation_p.E1149D|FHOD3_ENST00000591635.1_Missense_Mutation_p.E170D	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	957	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AAAGGCAAGAGATCATTGTTC	0.398													T	34310638	G	T	34310638	3	4	364	1	0	0	0	0	1	0	0	0	5932	933	33	4	2988	4	FHOD3	18	34310638	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218154	34310638	43766610	12956	36458											
FHOD3	80206	broad.mit.edu	37	chr18	34322791	34322791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatcctgtctactctcttagCcattgggaactttctaaatg	9	16	6	10	0	3	0	0	0	3	0	5	1	4	1	2	1	3	0	2	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34322791C>T	ENST00000257209.4	+	19	3448	c.3326C>T	c.(3325-3327)gCc>gTc	p.A1109V	FHOD3_ENST00000592128.1_Missense_Mutation_p.A88V|FHOD3_ENST00000445677.1_Missense_Mutation_p.A1071V|FHOD3_ENST00000359247.4_Missense_Mutation_p.A1092V|FHOD3_ENST00000590592.1_Missense_Mutation_p.A1284V|FHOD3_ENST00000591635.1_Missense_Mutation_p.A305V	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1092	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACTCTCTTAGCCATTGGGAAC	0.458													T	34322791	C	T	34322791	3	4	364	1	0	0	0	0	1	0	0	0	5932	739	26	2	3400	2	FHOD3	18	34322791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12153	34322791	43754457	12957	36459											
FHOD3	80206	broad.mit.edu	37	chr18	34324063	34324063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacacagtgcacaagcagtcGcttctccaccatgtgtgcac	10	8	9	14	1	1	0	0	0	1	0	3	1	1	0	2	0	3	4	2	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34324063G>A	ENST00000257209.4	+	20	3545	c.3423G>A	c.(3421-3423)tcG>tcA	p.S1141S	FHOD3_ENST00000592128.1_Silent_p.S120S|FHOD3_ENST00000445677.1_Silent_p.S1103S|FHOD3_ENST00000359247.4_Silent_p.S1124S|FHOD3_ENST00000590592.1_Silent_p.S1316S|FHOD3_ENST00000591635.1_Silent_p.S337S	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1124	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ACAAGCAGTCGCTTCTCCACC	0.488													A	34324063	G	A	34324063	2	1	364	1	0	0	0	0	0	0	0	1	5932	1074	38	1		1	FHOD3	18	34324063	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1272	34324063	43753185	12958	36460											
FHOD3	80206	broad.mit.edu	37	chr18	34326954	34326954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatgtcagatggagagaaGatgcaaagcttcatgggatc	13	11	12	5	0	2	3	2	0	0	3	3	6	2	5	0	2	2	2	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34326954G>T	ENST00000257209.4	+	21	3685	c.3563G>T	c.(3562-3564)aGa>aTa	p.R1188I	FHOD3_ENST00000592128.1_Missense_Mutation_p.R167I|FHOD3_ENST00000445677.1_Missense_Mutation_p.R1150I|FHOD3_ENST00000359247.4_Missense_Mutation_p.R1171I|FHOD3_ENST00000590592.1_Missense_Mutation_p.R1363I|FHOD3_ENST00000591635.1_Missense_Mutation_p.R384I	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	1171	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				ATGGAGAGAAGATGCAAAGCT	0.433													T	34326954	G	T	34326954	3	4	364	1	0	0	0	0	1	0	0	0	5932	942	33	4	3645	4	FHOD3	18	34326954	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2891	34326954	43750294	12959	36461											
KIAA1328	57536	broad.mit.edu	37	chr18	34415334	34415334	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggagattcagtagatGaacaggttagtatttttttc	12	14	10	5	0	1	3	1	1	0	2	2	4	1	3	0	2	1	4	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:34415334G>T	ENST00000591619.1	+	3	1006	c.220G>T	c.(220-222)Gaa>Taa	p.E74*	KIAA1328_ENST00000592521.1_Nonsense_Mutation_p.E78*|KIAA1328_ENST00000280020.5_Nonsense_Mutation_p.E78*|KIAA1328_ENST00000543923.1_Start_Codon_SNP_p.M1I|KIAA1328_ENST00000435985.2_5'UTR			Q86T90	K1328_HUMAN	KIAA1328	78										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		TTCAGTAGATGAACAGGTTAG	0.398													T	34415334	G	T	34415334	4	4	364	1	0	0	0	0	0	1	0	0	8283	1291	45	4	242	4	KIAA1328	18	34415334	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88380	34415334	43661914	12960	36462											
PIK3C3	5289	broad.mit.edu	37	chr18	39607487	39607487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtacttgaacgtaatgaGaagattcagccaagcattgt	14	11	10	6	1	1	3	1	2	0	2	1	5	1	3	1	0	4	3	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39607487G>T	ENST00000262039.4	+	14	1651	c.1565G>T	c.(1564-1566)aGa>aTa	p.R522I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.R7I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.R459I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	522					cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						AACGTAATGAGAAGATTCAGC	0.423										TSP Lung(28;0.18)			T	39607487	G	T	39607487	3	4	364	1	0	0	0	0	1	0	0	0	11989	942	33	4	1619	4	PIK3C3	18	39607487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5192153	39607487	38469761	12961	36463											
PIK3C3	5289	broad.mit.edu	37	chr18	39618800	39618800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accttataaggtgttagccaCcagtacaaaacatggtaagt	15	10	8	8	0	0	0	0	0	0	0	0	0	0	0	3	2	3	3	3	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:39618800C>T	ENST00000262039.4	+	18	2110	c.2024C>T	c.(2023-2025)aCc>aTc	p.T675I	PIK3C3_ENST00000593098.1_Missense_Mutation_p.T160I|PIK3C3_ENST00000587402.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000589056.1_Missense_Mutation_p.T22I|PIK3C3_ENST00000398870.3_Missense_Mutation_p.T612I	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	675	PI3K/PI4K.				cell cycle|cytokinesis|fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	midbody|phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|protein binding			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						GTGTTAGCCACCAGTACAAAA	0.279										TSP Lung(28;0.18)			T	39618800	C	T	39618800	3	4	364	1	0	0	0	0	1	0	0	0	11989	507	18	2	2094	2	PIK3C3	18	39618800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11313	39618800	38458448	12962	36464											
SETBP1	26040	broad.mit.edu	37	chr18	42281508	42281508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggatgaactaggctcagGgcgggatgtggattccaact	10	8	16	7	1	1	1	1	1	0	0	2	5	2	5	1	6	2	1	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42281508G>A	ENST00000282030.5	+	2	493	c.197G>A	c.(196-198)gGg>gAg	p.G66E	SETBP1_ENST00000426838.4_Missense_Mutation_p.G66E	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	66						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CTAGGCTCAGGGCGGGATGTG	0.562									Schinzel-Giedion syndrome				A	42281508	G	A	42281508	3	1	364	1	0	0	0	0	1	0	0	0	14222	1232	43	2	199	2	SETBP1	18	42281508	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2662708	42281508	35795740	12963	36465											
SETBP1	26040	broad.mit.edu	37	chr18	42532230	42532230	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcccaccggagttacacCttctaccacgagaatccata	12	9	5	15	2	2	1	0	0	2	1	4	3	3	2	5	1	2	1	5	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42532230C>A	ENST00000282030.5	+	4	3221	c.2925C>A	c.(2923-2925)acC>acA	p.T975T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	975						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		GGAGTTACACCTTCTACCACG	0.468									Schinzel-Giedion syndrome				A	42532230	C	A	42532230	2	1	364	1	0	0	0	0	0	0	0	1	14222	668	24	4		4	SETBP1	18	42532230	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250722	42532230	35545018	12964	36466											
SETBP1	26040	broad.mit.edu	37	chr18	42643159	42643159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagaagaacctggaccaCgtgaacaagatcctgaaggc	16	4	10	11	1	0	5	0	2	0	3	1	6	1	6	4	2	2	0	4	2	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:42643159C>T	ENST00000282030.5	+	6	4583	c.4287C>T	c.(4285-4287)caC>caT	p.H1429H		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1429						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		ACCTGGACCACGTGAACAAGA	0.557									Schinzel-Giedion syndrome				T	42643159	C	T	42643159	2	4	364	1	0	0	0	0	0	0	0	1	14222	535	19	1		1	SETBP1	18	42643159	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110929	42643159	35434089	12965	36467											
SLC14A2	8170	broad.mit.edu	37	chr18	43217042	43217042	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcaacattgcagtcaccttGtaccttgcagccacaggcca	10	10	7	14	0	2	0	2	0	0	0	2	0	2	0	4	1	5	3	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43217042G>A	ENST00000255226.6	+	6	1554	c.738G>A	c.(736-738)ttG>ttA	p.L246L	SLC14A2_ENST00000586448.1_Silent_p.L246L	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	246						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CAGTCACCTTGTACCTTGCAG	0.512													A	43217042	G	A	43217042	2	1	364	1	0	0	0	0	0	0	0	1	14491	1368	48	2		2	SLC14A2	18	43217042	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	573883	43217042	34860206	12966	36468											
SLC14A2	8170	broad.mit.edu	37	chr18	43253759	43253759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgtcatcacctggcagaCgcacctcctcgccatcgcct	7	8	7	19	4	2	1	2	0	0	1	5	1	3	1	5	1	1	2	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43253759C>T	ENST00000255226.6	+	18	3305	c.2489C>T	c.(2488-2490)aCg>aTg	p.T830M	SLC14A2_ENST00000589658.1_Missense_Mutation_p.T307M|SLC14A2_ENST00000586448.1_Missense_Mutation_p.T830M|RP11-116O18.3_ENST00000589510.1_RNA	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	830						apical plasma membrane|integral to membrane|membrane fraction	protein binding|urea transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						ACCTGGCAGACGCACCTCCTC	0.478													T	43253759	C	T	43253759	3	4	364	1	0	0	0	0	1	0	0	0	14491	536	19	1	2555	1	SLC14A2	18	43253759	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36717	43253759	34823489	12967	36469											
PSTPIP2	9050	broad.mit.edu	37	chr18	43591213	43591213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctcttctcttaaactCtgtgcaagctgaatgtgaca	9	13	8	11	0	3	2	0	2	3	0	4	2	3	2	1	1	3	2	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43591213C>A	ENST00000409746.5	-	5	359	c.288G>T	c.(286-288)caG>caT	p.Q96H	PSTPIP2_ENST00000589328.1_Missense_Mutation_p.Q96H|PSTPIP2_ENST00000588801.1_5'UTR	NM_024430.3	NP_077748.3	Q9H939	PPIP2_HUMAN	proline-serine-threonine phosphatase interacting protein 2	96						membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	17						CTCTTAAACTCTGTGCAAGCT	0.338													A	43591213	C	A	43591213	3	1	364	1	0	0	0	0	1	0	0	0	12807	912	32	4	756	4	PSTPIP2	18	43591213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	337454	43591213	34486035	12968	36470											
ATP5A1	498	broad.mit.edu	37	chr18	43667331	43667331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggataagtcgtcatagatGatcaaagcatgtttgccatt	12	14	9	6	1	2	2	2	1	0	1	3	3	2	3	1	1	2	2	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43667331G>A	ENST00000593152.2	-	7	1316	c.777C>T	c.(775-777)atC>atT	p.I259I	ATP5A1_ENST00000282050.2_Silent_p.I309I|ATP5A1_ENST00000398752.6_Silent_p.I309I|ATP5A1_ENST00000590665.1_Silent_p.I287I	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	309					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						CGTCATAGATGATCAAAGCAT	0.398													A	43667331	G	A	43667331	2	1	364	1	0	0	0	0	0	0	0	1	1152	1280	45	2		2	ATP5A1	18	43667331	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	76118	43667331	34409917	12969	36471											
ATP5A1	498	broad.mit.edu	37	chr18	43668133	43668133	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctcttttgaccaatagcAacataaatacagtacagctt	15	12	5	9	0	1	1	0	1	1	0	2	2	1	1	1	0	5	3	1	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43668133A>G	ENST00000593152.2	-	6	1130	c.591T>C	c.(589-591)gtT>gtC	p.V197V	ATP5A1_ENST00000282050.2_Silent_p.V247V|ATP5A1_ENST00000398752.6_Silent_p.V247V|ATP5A1_ENST00000590665.1_Silent_p.V225V	NM_001257335.1	NP_001244264.1	P25705	ATPA_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle	247					ATP hydrolysis coupled proton transport|embryo development|lipid metabolic process|negative regulation of endothelial cell proliferation|respiratory electron transport chain	mitochondrial matrix|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|skin(1)|urinary_tract(1)	22						GACCAATAGCAACATAAATAC	0.353													G	43668133	A	G	43668133	2	3	364	1	0	0	0	0	0	0	0	1	1152	117	5	3		3	ATP5A1	18	43668133	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	802	43668133	34409115	12970	36472											
HAUS1	115106	broad.mit.edu	37	chr18	43698240	43698240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatctgaatgctttggttgAcagtgcggtggcccttgaaa	8	13	13	7	1	1	3	0	3	1	0	1	3	1	3	1	3	2	3	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:43698240A>G	ENST00000282058.6	+	3	379	c.299A>G	c.(298-300)gAc>gGc	p.D100G	HAUS1_ENST00000588704.1_3'UTR|HAUS1_ENST00000585518.1_Intron	NM_138443.3	NP_612452.1	Q96CS2	HAUS1_HUMAN	HAUS augmin-like complex, subunit 1	100					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle pole				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						GCTTTGGTTGACAGTGCGGTG	0.423													G	43698240	A	G	43698240	3	3	364	1	0	0	0	0	1	0	0	0	7020	275	10	3	309	3	HAUS1	18	43698240	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30107	43698240	34379008	12971	36473											
RNF165	494470	broad.mit.edu	37	chr18	44027530	44027530	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtttccctgcagggatCtcagtgtggatgctggcttg	4	13	15	9	0	1	0	1	0	1	0	3	2	2	2	1	4	2	5	1	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027530C>A	ENST00000269439.7	+	4	541	c.490C>A	c.(490-492)Ctc>Atc	p.L164I	RNF165_ENST00000543885.1_5'UTR	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	164							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CTGCAGGGATCTCAGTGTGGA	0.532													A	44027530	C	A	44027530	3	1	364	1	0	0	0	0	1	0	0	0	13547	913	32	4	504	4	RNF165	18	44027530	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	329290	44027530	34049718	12972	36474											
RNF165	494470	broad.mit.edu	37	chr18	44027652	44027652	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactcctcctccacacaGatggtaagtgaaagaagacg	16	6	9	10	1	0	5	0	1	0	4	3	5	3	5	3	1	1	1	3	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44027652G>T	ENST00000269439.7	+	4	663	c.612G>T	c.(610-612)caG>caT	p.Q204H	RNF165_ENST00000543885.1_Missense_Mutation_p.Q12H	NM_152470.2	NP_689683.2	Q6ZSG1	RN165_HUMAN	ring finger protein 165	204							zinc ion binding			NS(1)|large_intestine(4)|lung(6)	11				READ - Rectum adenocarcinoma(1;0.0873)		CCTCCACACAGATGGTAAGTG	0.582													T	44027652	G	T	44027652	3	4	364	1	0	0	0	0	1	0	0	0	13547	933	33	4	626	4	RNF165	18	44027652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122	44027652	34049596	12973	36475											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260099	44260099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagggcatggcgtggaagCcgggacgcggcttgacgttg	7	6	19	9	5	0	2	0	1	0	1	0	4	0	4	1	5	1	3	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260099C>T	ENST00000315087.7	-	7	1697	c.1037G>A	c.(1036-1038)gGc>gAc	p.G346D	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.G315D|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.G382D|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	346					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						GGCGTGGAAGCCGGGACGCGG	0.607													T	44260099	C	T	44260099	3	4	364	1	0	0	0	0	1	0	0	0	15331	739	26	2	97	2	ST8SIA5	18	44260099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232447	44260099	33817149	12974	36476											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260279	44260279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggctgagccagtagcgcGacacgttgaccaggtactgc	9	6	13	13	3	0	2	0	2	0	0	0	3	0	2	3	2	4	4	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44260279G>A	ENST00000315087.7	-	7	1517	c.857C>T	c.(856-858)tCg>tTg	p.S286L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S255L|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S322L|ST8SIA5_ENST00000590497.1_5'UTR	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	286					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CCAGTAGCGCGACACGTTGAC	0.617													A	44260279	G	A	44260279	3	1	364	1	0	0	0	0	1	0	0	0	15331	1059	37	1	277	1	ST8SIA5	18	44260279	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180	44260279	33816969	12975	36477											
TCEB3C	162699	broad.mit.edu	37	chr18	44555163	44555163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccacgtcgccgagggCgtccggattgttcctaggca	5	9	12	15	5	0	0	0	0	0	0	4	2	3	1	5	3	0	2	5	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44555163C>T	ENST00000330682.2	-	1	1286	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	351	Activation domain (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						TCGCCGAGGGCGTCCGGATTG	0.652													T	44555163	C	T	44555163	3	4	364	1	0	0	0	0	1	0	0	0	15783	768	27	1	2236	1	TCEB3C	18	44555163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	294884	44555163	33522085	12976	36478											
TCEB3B	51224	broad.mit.edu	37	chr18	44559560	44559560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgctgtctctgccaccGccgctgctgctctggctgga	2	11	12	16	2	2	0	0	0	2	0	3	1	2	1	3	2	5	6	3	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559560G>A	ENST00000332567.4	-	1	2428	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	692					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						ctctgccaccgccgctgctgc	0.667													A	44559560	G	A	44559560	2	1	364	1	0	0	0	0	0	0	0	1	15782	1074	38	1		1	TCEB3B	18	44559560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4397	44559560	33517688	12977	36479											
TCEB3B	51224	broad.mit.edu	37	chr18	44559863	44559863	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttcttccttgaagtcCtggaaacaatgattcctccg	8	14	8	11	1	1	2	0	2	1	0	5	3	5	3	4	2	1	1	4	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44559863C>A	ENST00000332567.4	-	1	2125	c.1773G>T	c.(1771-1773)caG>caT	p.Q591H	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	591	Activation domain (By similarity).				regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTTGAAGTCCTGGAAACAAT	0.512													A	44559863	C	A	44559863	3	1	364	1	0	0	0	0	1	0	0	0	15782	680	24	4	492	4	TCEB3B	18	44559863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303	44559863	33517385	12978	36480											
TCEB3B	51224	broad.mit.edu	37	chr18	44560997	44560997	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acggctttcccctggggttgGccctggcagcctggacacag	5	8	14	14	1	0	0	0	0	0	0	1	1	1	1	4	6	1	3	4	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44560997G>A	ENST00000332567.4	-	1	991	c.639C>T	c.(637-639)ggC>ggT	p.G213G	KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	213					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCTGGGGTTGGCCCTGGCAGC	0.672													A	44560997	G	A	44560997	2	1	364	1	0	0	0	0	0	0	0	1	15782	1190	42	2		2	TCEB3B	18	44560997	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1134	44560997	33516251	12979	36481											
KATNAL2	83473	broad.mit.edu	37	chr18	44589659	44589659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctcctctcatcaggaacGactgctgaaacctctgagtg	9	9	9	14	2	3	2	2	2	2	0	5	4	4	3	3	1	3	2	3	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:44589659G>A	ENST00000245121.5	+	7	631	c.437G>A	c.(436-438)cGa>cAa	p.R146Q	KATNAL2_ENST00000356157.7_Missense_Mutation_p.R218Q|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	218						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						CATCAGGAACGACTGCTGAAA	0.458													A	44589659	G	A	44589659	3	1	364	1	0	0	0	0	1	0	0	0	8044	1058	37	1	459	1	KATNAL2	18	44589659	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28662	44589659	33487589	12980	36482											
SMAD2	4087	broad.mit.edu	37	chr18	45374854	45374854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaaacatacctatatgcCttcttgtcatttctaccgtg	12	15	4	10	1	3	0	1	0	2	0	3	0	3	0	3	0	4	0	3	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45374854C>A	ENST00000402690.2	-	8	1383	c.989G>T	c.(988-990)aGg>aTg	p.R330M	SMAD2_ENST00000591214.1_Missense_Mutation_p.R300M|SMAD2_ENST00000586040.1_Missense_Mutation_p.R300M|SMAD2_ENST00000262160.6_Missense_Mutation_p.R330M|SMAD2_ENST00000356825.4_Missense_Mutation_p.R300M	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	330	MH2.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACCTATATGCCTTCTTGTCAT	0.398													A	45374854	C	A	45374854	3	1	364	1	0	0	0	0	1	0	0	0	14852	681	24	4	430	4	SMAD2	18	45374854	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	785195	45374854	32702394	12981	36483											
SMAD2	4087	broad.mit.edu	37	chr18	45396887	45396887	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaggcctgttgtatcccaCtgatctatcgtatttggtgt	8	16	9	8	1	1	1	0	1	1	0	3	1	2	1	2	2	0	3	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45396887C>A	ENST00000402690.2	-	3	679	c.285G>T	c.(283-285)caG>caT	p.Q95H	SMAD2_ENST00000591214.1_Intron|SMAD2_ENST00000587353.1_5'UTR|SMAD2_ENST00000586040.1_Intron|SMAD2_ENST00000262160.6_Missense_Mutation_p.Q95H|SMAD2_ENST00000356825.4_Intron	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	95	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						TTGTATCCCACTGATCTATCG	0.408													A	45396887	C	A	45396887	3	1	364	1	0	0	0	0	1	0	0	0	14852	564	20	4	1154	4	SMAD2	18	45396887	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22033	45396887	32680361	12982	36484											
ZBTB7C	201501	broad.mit.edu	37	chr18	45556204	45556204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaggtcgtagttgtgcacGaacttggcgttgcagtggat	7	13	15	6	3	0	1	0	1	0	0	1	3	0	2	0	3	3	5	0	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45556204G>A	ENST00000588982.1	-	4	1788	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	ZBTB7C_ENST00000586438.1_Silent_p.F429F|ZBTB7C_ENST00000332053.2_Silent_p.F429F|ZBTB7C_ENST00000535628.2_Silent_p.F429F|ZBTB7C_ENST00000590800.1_Silent_p.F429F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	429						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						AGTTGTGCACGAACTTGGCGT	0.592													A	45556204	G	A	45556204	2	1	364	1	0	0	0	0	0	0	0	1	17656	1049	37	1		1	ZBTB7C	18	45556204	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159317	45556204	32521044	12983	36485											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566387	45566387	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtggcagatggggcactgCtgagaggccttgggcttcag	6	10	17	8	0	1	2	1	1	0	2	1	3	1	2	1	5	1	4	1	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566387C>T	ENST00000588982.1	-	3	1593	c.1092G>A	c.(1090-1092)caG>caA	p.Q364Q	ZBTB7C_ENST00000586438.1_Silent_p.Q364Q|ZBTB7C_ENST00000332053.2_Silent_p.Q364Q|ZBTB7C_ENST00000535628.2_Silent_p.Q364Q|ZBTB7C_ENST00000590800.1_Silent_p.Q364Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	364						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						TGGGGCACTGCTGAGAGGCCT	0.622													T	45566387	C	T	45566387	2	4	364	1	0	0	0	0	0	0	0	1	17656	796	28	2		2	ZBTB7C	18	45566387	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10183	45566387	32510861	12984	36486											
ZBTB7C	201501	broad.mit.edu	37	chr18	45566687	45566687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagctgggcaaaggcaccGaagtcccctggccagaggtg	9	4	16	12	1	0	1	0	0	0	1	1	2	1	1	4	5	1	4	4	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45566687G>A	ENST00000588982.1	-	3	1293	c.792C>T	c.(790-792)ttC>ttT	p.F264F	ZBTB7C_ENST00000586438.1_Silent_p.F264F|ZBTB7C_ENST00000332053.2_Silent_p.F264F|ZBTB7C_ENST00000535628.2_Silent_p.F264F|ZBTB7C_ENST00000590800.1_Silent_p.F264F			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	264						intracellular	nucleic acid binding|zinc ion binding			endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						CAAAGGCACCGAAGTCCCCTG	0.592													A	45566687	G	A	45566687	2	1	364	1	0	0	0	0	0	0	0	1	17656	1049	37	1		1	ZBTB7C	18	45566687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	300	45566687	32510561	12985	36487											
ZBTB7C	201501	broad.mit.edu	37	chr18	45567396	45567396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagcaggccatcgtgcCgttgctcattgaggctgcac	8	8	11	14	2	1	1	1	1	0	0	2	1	1	1	2	2	4	5	2	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:45567396C>T	ENST00000588982.1	-	3	584	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	ZBTB7C_ENST00000586438.1_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000332053.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000535628.2_Missense_Mutation_p.R28Q|ZBTB7C_ENST00000590800.1_Missense_Mutation_p.R28Q			A1YPR0	ZBT7C_HUMAN	zinc finger and BTB domain containing 7C	28						intracellular	nucleic acid binding|zinc ion binding	p.R28Q(1)		endometrium(8)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCCATCGTGCCGTTGCTCATT	0.582													T	45567396	C	T	45567396	3	4	364	1	0	0	0	0	1	0	0	0	17656	652	23	1	1784	1	ZBTB7C	18	45567396	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	709	45567396	32509852	12986	36488											
SMAD7	4092	broad.mit.edu	37	chr18	46448197	46448197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctcctggacacagtagaGcctccccactctcgtcttct	6	10	9	16	1	3	1	0	0	3	1	6	2	5	2	4	2	1	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46448197G>A	ENST00000262158.2	-	4	1112	c.826C>T	c.(826-828)Ctc>Ttc	p.L276F	SMAD7_ENST00000591805.1_Missense_Mutation_p.L61F|SMAD7_ENST00000589634.1_Missense_Mutation_p.L275F|SMAD7_ENST00000585986.1_5'UTR	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	276	MH2.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					ACACAGTAGAGCCTCCCCACT	0.532													A	46448197	G	A	46448197	3	1	364	1	0	0	0	0	1	0	0	0	14857	971	34	2	458	2	SMAD7	18	46448197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	880801	46448197	31629051	12987	36489											
SMAD7	4092	broad.mit.edu	37	chr18	46476188	46476188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacaacttctcacctagttCgcagagtcggctaaggtgat	10	10	11	10	2	1	2	1	1	1	1	4	3	1	3	1	3	1	3	1	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46476188C>T	ENST00000262158.2	-	1	893	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	SMAD7_ENST00000589634.1_Missense_Mutation_p.E203K	NM_001190821.1|NM_005904.3	NP_001177750.1|NP_005895.1	O15105	SMAD7_HUMAN	SMAD family member 7	203	MH1.				adherens junction assembly|artery morphogenesis|BMP signaling pathway|cellular protein complex localization|negative regulation of BMP signaling pathway|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of peptidyl-serine phosphorylation|negative regulation of peptidyl-threonine phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|negative regulation of ubiquitin-protein ligase activity|pathway-restricted SMAD protein phosphorylation|positive regulation of anti-apoptosis|positive regulation of cell-cell adhesion|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein stabilization|regulation of activin receptor signaling pathway|response to laminar fluid shear stress|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	centrosome|cytosol|nucleolus|plasma membrane|transcription factor complex	activin binding|beta-catenin binding|I-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transforming growth factor beta receptor, inhibitory cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)	10	Colorectal(1;0.0518)					TCACCTAGTTCGCAGAGTCGG	0.567											OREG0024975	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	46476188	C	T	46476188	3	4	364	1	0	0	0	0	1	0	0	0	14857	893	31	1	689	1	SMAD7	18	46476188	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27991	46476188	31601060	12988	36490											
DYM	54808	broad.mit.edu	37	chr18	46570554	46570554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctcctcttccacatatttGaatttcaattctggaaattt	10	18	4	9	0	3	1	1	1	2	0	5	2	5	2	2	1	1	1	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46570554G>A	ENST00000269445.6	-	17	2338	c.1881C>T	c.(1879-1881)ttC>ttT	p.F627F	DYM_ENST00000442713.2_Silent_p.F437F|RP11-15F12.1_ENST00000584252.1_RNA	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	627						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						CCACATATTTGAATTTCAATT	0.433													A	46570554	G	A	46570554	2	1	364	1	0	0	0	0	0	0	0	1	4879	1281	45	2		2	DYM	18	46570554	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94366	46570554	31506694	12989	36491											
DYM	54808	broad.mit.edu	37	chr18	46956757	46956757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgccgattctgctgctattcGatcccatcttctagcttaag	7	14	7	13	3	3	0	0	0	3	0	5	2	4	0	2	0	3	3	2	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:46956757G>A	ENST00000269445.6	-	2	465	c.8C>T	c.(7-9)tCg>tTg	p.S3L	DYM_ENST00000442713.2_Missense_Mutation_p.S3L|DYM_ENST00000584977.1_5'UTR	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	3						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GCTGCTATTCGATCCCATCTT	0.348													A	46956757	G	A	46956757	3	1	364	1	0	0	0	0	1	0	0	0	4879	1059	37	1	2065	1	DYM	18	46956757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	386203	46956757	31120491	12990	36492											
C18orf32	497661	broad.mit.edu	37	chr18	47009974	47009974	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaagtttactttgccttTgtttgtatcattggattctt	7	22	6	6	0	2	0	1	0	1	0	2	1	2	1	1	1	2	3	1	1	4	10			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47009974T>G	ENST00000318240.3	-	2	356	c.145A>C	c.(145-147)Aaa>Caa	p.K49Q	RPL17-C18orf32_ENST00000584895.1_Silent_p.T225T|RPL17-C18orf32_ENST00000332968.6_Silent_p.T187T|C18orf32_ENST00000579820.1_Missense_Mutation_p.K49Q|C18orf32_ENST00000582392.1_Missense_Mutation_p.K49Q	NM_001035005.3	NP_001030177.1	Q8TCD1	CR032_HUMAN	chromosome 18 open reading frame 32	49					positive regulation of I-kappaB kinase/NF-kappaB cascade		signal transducer activity			large_intestine(2)|lung(1)	3						ACTTTGCCTTTGTTTGTATCA	0.393													G	47009974	T	G	47009974	3	3	364	1	0	0	0	0	1	0	0	0	1919	1821	63	5	93	5	C18orf32	18	47009974	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	53217	47009974	31067274	12991	36493											
LIPG	9388	broad.mit.edu	37	chr18	47107794	47107794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacccccagcaatcacagAggtggtaaaatgtgagcatg	13	6	10	12	0	1	2	1	1	0	1	1	2	1	2	3	2	2	3	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47107794A>G	ENST00000261292.4	+	6	1081	c.803A>G	c.(802-804)gAg>gGg	p.E268G	LIPG_ENST00000577628.1_Missense_Mutation_p.E304G|LIPG_ENST00000427224.2_Missense_Mutation_p.E194G|LIPG_ENST00000580036.1_Missense_Mutation_p.E268G	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	268					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCAATCACAGAGGTGGTAAAA	0.463													G	47107794	A	G	47107794	3	3	364	1	0	0	0	0	1	0	0	0	8884	304	11	3	825	3	LIPG	18	47107794	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	97820	47107794	30969454	12992	36494											
ACAA2	10449	broad.mit.edu	37	chr18	47310300	47310300	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatattttccacctcgacGcctgaaaaagaaagcagtga	14	8	9	10	2	0	3	0	2	0	1	2	4	1	3	3	1	1	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47310300G>A	ENST00000285093.10	-	10	1586	c.1111C>T	c.(1111-1113)Cgt>Tgt	p.R371C	ACAA2_ENST00000587994.1_Splice_Site_p.R368C|ACAA2_ENST00000589432.1_Splice_Site_p.R316C	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	371					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						CCACCTCGACGCCTGAAAAAG	0.408													A	47310300	G	A	47310300	5	1	364	1	0	0	0	0	0	0	1	0	105	1101	38	1	86	1	ACAA2	18	47310300	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202506	47310300	30766948	12993	36495											
ACAA2	10449	broad.mit.edu	37	chr18	47329192	47329192	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcctccgtaagctccaaaGggcgttcgcttagcagcaac	10	7	11	13	3	0	0	0	0	0	0	3	0	2	0	3	2	4	6	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47329192G>T	ENST00000285093.10	-	2	523	c.48C>A	c.(46-48)ccC>ccA	p.P16P	ACAA2_ENST00000587994.1_Silent_p.P13P|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000589432.1_5'UTR	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	16					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						AAGCTCCAAAGGGCGTTCGCT	0.448													T	47329192	G	T	47329192	2	4	364	1	0	0	0	0	0	0	0	1	105	987	35	4		4	ACAA2	18	47329192	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18892	47329192	30748056	12994	36496											
MYO5B	4645	broad.mit.edu	37	chr18	47389692	47389692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgatctggcattaatgttCggctcctagaaagccccaga	10	11	9	11	1	1	3	0	1	1	2	3	3	2	3	3	2	1	3	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47389692C>T	ENST00000285039.7	-	29	4148	c.3849G>A	c.(3847-3849)ccG>ccA	p.P1283P	MYO5B_ENST00000324581.6_Silent_p.P424P|MYO5B_ENST00000587895.1_5'UTR	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1283					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATTAATGTTCGGCTCCTAGA	0.418													T	47389692	C	T	47389692	2	4	364	1	0	0	0	0	0	0	0	1	10155	871	31	1		1	MYO5B	18	47389692	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60500	47389692	30687556	12995	36497											
MYO5B	4645	broad.mit.edu	37	chr18	47431075	47431075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccgcacaaacatggcccgGgtgaaggcctggataacaac	12	5	11	13	2	0	1	0	1	0	0	1	2	1	2	3	4	3	1	3	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47431075G>T	ENST00000285039.7	-	20	2837	c.2538C>A	c.(2536-2538)acC>acA	p.T846T		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	846	Arg-rich.|IQ 3.|IQ 4.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACATGGCCCGGGTGAAGGCCT	0.582													T	47431075	G	T	47431075	2	4	364	1	0	0	0	0	0	0	0	1	10155	1219	43	4		4	MYO5B	18	47431075	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41383	47431075	30646173	12996	36498											
MYO5B	4645	broad.mit.edu	37	chr18	47479645	47479645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttaccttgctggccttcagGatattgatctgctcttcata	7	17	7	10	0	4	1	2	1	2	0	4	2	4	2	2	2	3	2	2	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47479645G>A	ENST00000285039.7	-	14	2036	c.1737C>T	c.(1735-1737)atC>atT	p.I579I		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	579	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGGCCTTCAGGATATTGATCT	0.537													A	47479645	G	A	47479645	2	1	364	1	0	0	0	0	0	0	0	1	10155	1164	41	2		2	MYO5B	18	47479645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48570	47479645	30597603	12997	36499											
MYO5B	4645	broad.mit.edu	37	chr18	47480773	47480773	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccggtcatagagcttCtgagcccagttctggtcagt	7	11	13	10	1	4	2	2	1	2	1	4	3	4	2	2	2	3	2	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47480773C>A	ENST00000285039.7	-	13	1877	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	526	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CATAGAGCTTCTGAGCCCAGT	0.567													A	47480773	C	A	47480773	3	1	364	1	0	0	0	0	1	0	0	0	10155	912	32	4	4080	4	MYO5B	18	47480773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1128	47480773	30596475	12998	36500											
CXXC1	30827	broad.mit.edu	37	chr18	47809259	47809259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtccacttccgcacgccGcagcttctcccagcagtaat	9	8	7	17	3	1	0	0	0	1	0	4	0	3	0	4	0	2	5	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809259G>A	ENST00000285106.6	-	14	2503	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	CXXC1_ENST00000589940.1_Silent_p.C584C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R601W	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	597					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCGCACGCCGCAGCTTCTCC	0.612													A	47809259	G	A	47809259	3	1	364	1	0	0	0	0	1	0	0	0	4130	1086	38	1	189	1	CXXC1	18	47809259	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	328486	47809259	30267989	12999	36501											
CXXC1	30827	broad.mit.edu	37	chr18	47809307	47809307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcactggcgcttgggcaggcGgcagaagtcacccgtgagct	7	6	16	12	3	1	2	1	1	0	1	1	2	1	2	1	4	1	5	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47809307G>A	ENST00000285106.6	-	14	2455	c.1741C>T	c.(1741-1743)Cgc>Tgc	p.R581C	CXXC1_ENST00000589940.1_Silent_p.A568A|CXXC1_ENST00000412036.2_Missense_Mutation_p.R585C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	581					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TTGGGCAGGCGGCAGAAGTCA	0.612													A	47809307	G	A	47809307	3	1	364	1	0	0	0	0	1	0	0	0	4130	1116	39	1	237	1	CXXC1	18	47809307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48	47809307	30267941	13000	36502											
SKA1	220134	broad.mit.edu	37	chr18	47917508	47917508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacaggtacatgaaatcccGcttaacctataatcaaatta	16	12	4	9	1	1	1	1	1	0	0	2	1	2	1	2	1	3	2	2	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:47917508G>A	ENST00000285116.3	+	6	675	c.464G>A	c.(463-465)cGc>cAc	p.R155H	SKA1_ENST00000417656.2_Missense_Mutation_p.R109H|SKA1_ENST00000398452.2_Missense_Mutation_p.R155H|SKA1_ENST00000488454.1_Missense_Mutation_p.R4H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	155					cell division|chromosome segregation|mitotic anaphase|mitotic prometaphase|regulation of microtubule polymerization or depolymerization	condensed chromosome outer kinetochore|cytosol|spindle microtubule	microtubule binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						ATGAAATCCCGCTTAACCTAT	0.259													A	47917508	G	A	47917508	3	1	364	1	0	0	0	0	1	0	0	0	14446	1087	38	1	482	1	SKA1	18	47917508	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108201	47917508	30159740	13001	36503											
DCC	1630	broad.mit.edu	37	chr18	50450170	50450170	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctggaatgttgtgtttCtggctatcctccaccaagtt	6	16	9	10	0	1	0	0	0	1	0	4	1	4	1	4	2	0	4	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50450170C>A	ENST00000442544.2	+	4	1407	c.791C>A	c.(790-792)tCt>tAt	p.S264Y	DCC_ENST00000412726.1_Missense_Mutation_p.S112Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	264	Ig-like C2-type 3.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGTTGTGTTTCTGGCTATCCT	0.408													A	50450170	C	A	50450170	3	1	364	1	0	0	0	0	1	0	0	0	4316	913	32	4	805	4	DCC	18	50450170	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2532662	50450170	27627078	13002	36504											
DCC	1630	broad.mit.edu	37	chr18	50592436	50592436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaagcaacttacggatActtggggtggtgaagtcaga	12	8	16	5	1	1	2	1	1	0	1	1	5	1	5	0	6	4	1	0	6	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50592436A>G	ENST00000442544.2	+	7	1777	c.1161A>G	c.(1159-1161)atA>atG	p.I387M	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.I42M|DCC_ENST00000412726.1_Missense_Mutation_p.I235M	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	387	Ig-like C2-type 4.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ACTTACGGATACTTGGGGTGG	0.428													G	50592436	A	G	50592436	3	3	364	1	0	0	0	0	1	0	0	0	4316	381	14	3	1187	3	DCC	18	50592436	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	142266	50592436	27484812	13003	36505											
DCC	1630	broad.mit.edu	37	chr18	50683750	50683750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctccagtgtcctccCttcggctcccagagatgtgg	6	9	10	16	1	0	1	0	0	0	1	5	2	4	1	5	2	1	2	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:50683750C>A	ENST00000442544.2	+	8	1902	c.1286C>A	c.(1285-1287)cCt>cAt	p.P429H	DCC_ENST00000580146.1_3'UTR|DCC_ENST00000581580.1_Missense_Mutation_p.P84H|DCC_ENST00000412726.1_Missense_Mutation_p.P277H	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	429	Fibronectin type-III 1.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		p.P429H(1)		NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		AGTGTCCTCCCTTCGGCTCCC	0.542													A	50683750	C	A	50683750	3	1	364	1	0	0	0	0	1	0	0	0	4316	681	24	4	1316	4	DCC	18	50683750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91314	50683750	27393498	13004	36506											
MBD2	8932	broad.mit.edu	37	chr18	51715253	51715253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatccttacctgacgtggCtgttcattcattcgttgtgg	6	16	10	9	2	2	2	2	1	0	1	4	2	3	2	2	2	1	3	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51715253C>A	ENST00000256429.3	-	3	1059	c.831G>T	c.(829-831)caG>caT	p.Q277H		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	277					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	CCTGACGTGGCTGTTCATTCA	0.333													A	51715253	C	A	51715253	3	1	364	1	0	0	0	0	1	0	0	0	9418	796	28	4	420	4	MBD2	18	51715253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1031503	51715253	26361995	13005	36507											
POLI	11201	broad.mit.edu	37	chr18	51809233	51809233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctataaaactgccaaatgtCttgaagcactgggtatcaat	14	11	8	8	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51809233C>T	ENST00000579534.1	+	6	966	c.823C>T	c.(823-825)Ctt>Ttt	p.L275F	POLI_ENST00000579434.1_Missense_Mutation_p.L172F|POLI_ENST00000406285.3_Missense_Mutation_p.L196F|POLI_ENST00000217800.5_Missense_Mutation_p.L149F	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	275					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		TGCCAAATGTCTTGAAGCACT	0.303								DNA polymerases (catalytic subunits)					T	51809233	C	T	51809233	3	4	364	1	0	0	0	0	1	0	0	0	12280	913	32	2	845	2	POLI	18	51809233	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93980	51809233	26268015	13006	36508											
POLI	11201	broad.mit.edu	37	chr18	51818404	51818404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgctctggcaagcacaGttttgtaagtacactctttt	9	15	7	10	1	3	0	1	0	2	0	3	0	3	0	0	1	2	6	0	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51818404G>T	ENST00000579534.1	+	9	1543	c.1400G>T	c.(1399-1401)aGt>aTt	p.S467I	POLI_ENST00000579434.1_Missense_Mutation_p.S364I|POLI_ENST00000406285.3_Missense_Mutation_p.S388I|POLI_ENST00000582366.1_3'UTR|POLI_ENST00000217800.5_Missense_Mutation_p.S341I	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	467					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GGCAAGCACAGTTTTGTAAGT	0.333								DNA polymerases (catalytic subunits)					T	51818404	G	T	51818404	3	4	364	1	0	0	0	0	1	0	0	0	12280	1029	36	4	1434	4	POLI	18	51818404	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9171	51818404	26258844	13007	36509											
POLI	11201	broad.mit.edu	37	chr18	51820658	51820658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagccataagcaaacagtaGcaacagactctcatgaagga	18	6	8	9	0	1	2	1	1	1	1	2	3	1	3	1	1	5	3	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51820658G>A	ENST00000579534.1	+	10	2187	c.2044G>A	c.(2044-2046)Gca>Aca	p.A682T	POLI_ENST00000579434.1_Missense_Mutation_p.A579T|POLI_ENST00000406285.3_Missense_Mutation_p.A603T|POLI_ENST00000217800.5_Missense_Mutation_p.A556T	NM_007195.2	NP_009126.2	Q9UNA4	POLI_HUMAN	polymerase (DNA directed) iota	682					DNA repair|DNA replication	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(5)|ovary(3)|urinary_tract(1)	26				Colorectal(16;0.0234)|READ - Rectum adenocarcinoma(59;0.197)		GCAAACAGTAGCAACAGACTC	0.393								DNA polymerases (catalytic subunits)					A	51820658	G	A	51820658	3	1	364	1	0	0	0	0	1	0	0	0	12280	971	34	2	2082	2	POLI	18	51820658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2254	51820658	26256590	13008	36510											
C18orf54	162681	broad.mit.edu	37	chr18	51889146	51889146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttttacaattaggtgacAaaattgaattgcttatcttg	13	17	6	5	0	2	2	0	2	2	0	2	2	2	2	0	1	2	1	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:51889146A>G	ENST00000300091.5	+	4	927	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E	C18orf54_ENST00000382911.4_Missense_Mutation_p.K360E|C18orf54_ENST00000578138.1_5'UTR	NM_173529.4	NP_775800.3	Q8IYD9	CR054_HUMAN	chromosome 18 open reading frame 54	199						extracellular region				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	15				Colorectal(16;0.0206)|READ - Rectum adenocarcinoma(59;0.186)		ATTAGGTGACAAAATTGAATT	0.333													G	51889146	A	G	51889146	3	3	364	1	0	0	0	0	1	0	0	0	1922	131	5	3	605	3	C18orf54	18	51889146	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	68488	51889146	26188102	13009	36511											
CCDC68	80323	broad.mit.edu	37	chr18	52586565	52586565	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaactgcagatgagagatCtgctcctggagaatggaaat	15	8	11	7	0	1	4	0	1	1	3	2	7	2	5	1	2	3	2	1	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52586565C>A	ENST00000591504.1	-	9	1000	c.726G>T	c.(724-726)caG>caT	p.Q242H	CCDC68_ENST00000337363.4_Missense_Mutation_p.Q242H|CCDC68_ENST00000432185.1_Missense_Mutation_p.Q242H	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	242										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		GATGAGAGATCTGCTCCTGGA	0.453													A	52586565	C	A	52586565	3	1	364	1	0	0	0	0	1	0	0	0	2868	912	32	4	297	4	CCDC68	18	52586565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697419	52586565	25490683	13010	36512											
TCF4	6925	broad.mit.edu	37	chr18	52895571	52895571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcttttcagacacgcaGctttcggattcagattcctt	7	15	6	13	2	3	2	2	0	1	2	5	3	4	3	2	1	1	2	2	1	0	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52895571G>T	ENST00000354452.3	-	19	2512	c.1901C>A	c.(1900-1902)gCt>gAt	p.A634D	TCF4_ENST00000565018.2_Missense_Mutation_p.A634D|TCF4_ENST00000537856.3_Missense_Mutation_p.A500D|TCF4_ENST00000570287.2_Missense_Mutation_p.A470D|TCF4_ENST00000564999.1_Missense_Mutation_p.A630D|TCF4_ENST00000561831.3_Missense_Mutation_p.A470D|TCF4_ENST00000561992.1_Missense_Mutation_p.A500D|TCF4_ENST00000457482.3_Missense_Mutation_p.A474D|TCF4_ENST00000398339.1_Missense_Mutation_p.A736D|TCF4_ENST00000356073.4_Missense_Mutation_p.A630D|TCF4_ENST00000568673.1_Missense_Mutation_p.A610D|TCF4_ENST00000566279.1_Missense_Mutation_p.A574D|TCF4_ENST00000564228.1_Missense_Mutation_p.A559D|TCF4_ENST00000567880.1_Missense_Mutation_p.A570D|TCF4_ENST00000568740.1_Missense_Mutation_p.A605D|TCF4_ENST00000566286.1_Missense_Mutation_p.A627D|TCF4_ENST00000564403.2_Missense_Mutation_p.A640D|TCF4_ENST00000544241.2_Missense_Mutation_p.A563D|TCF4_ENST00000537578.1_Missense_Mutation_p.A610D|TCF4_ENST00000540999.1_Missense_Mutation_p.A606D|TCF4_ENST00000543082.1_Missense_Mutation_p.A588D|TCF4_ENST00000570177.2_Missense_Mutation_p.A500D	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	630	Class A specific domain.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		CAGACACGCAGCTTTCGGATT	0.532													T	52895571	G	T	52895571	3	4	364	1	0	0	0	0	1	0	0	0	15795	971	34	4	118	4	TCF4	18	52895571	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	309006	52895571	25181677	13011	36513											
TCF4	6925	broad.mit.edu	37	chr18	52896162	52896162	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcttgtcactcttgaGgtggagctgcaccatgcggc	5	10	15	11	1	2	1	1	1	1	0	2	2	2	2	1	5	3	3	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:52896162G>T	ENST00000354452.3	-	18	2406	c.1795C>A	c.(1795-1797)Ctc>Atc	p.L599I	TCF4_ENST00000565018.2_Missense_Mutation_p.L599I|TCF4_ENST00000537856.3_Missense_Mutation_p.L465I|TCF4_ENST00000570287.2_Missense_Mutation_p.L435I|TCF4_ENST00000564999.1_Missense_Mutation_p.L595I|TCF4_ENST00000561831.3_Missense_Mutation_p.L435I|TCF4_ENST00000561992.1_Missense_Mutation_p.L465I|TCF4_ENST00000457482.3_Missense_Mutation_p.L439I|TCF4_ENST00000398339.1_Missense_Mutation_p.L701I|TCF4_ENST00000356073.4_Missense_Mutation_p.L595I|TCF4_ENST00000568673.1_Missense_Mutation_p.L575I|TCF4_ENST00000566279.1_Missense_Mutation_p.L539I|TCF4_ENST00000564228.1_Missense_Mutation_p.L524I|TCF4_ENST00000567880.1_Missense_Mutation_p.L535I|TCF4_ENST00000568740.1_Missense_Mutation_p.L570I|TCF4_ENST00000566286.1_Missense_Mutation_p.L592I|TCF4_ENST00000564403.2_Missense_Mutation_p.L605I|TCF4_ENST00000544241.2_Missense_Mutation_p.L528I|TCF4_ENST00000537578.1_Missense_Mutation_p.L575I|TCF4_ENST00000540999.1_Missense_Mutation_p.L571I|TCF4_ENST00000543082.1_Missense_Mutation_p.L553I|TCF4_ENST00000570177.2_Missense_Mutation_p.L465I	NM_001083962.1	NP_001077431.1	P15884	ITF2_HUMAN	transcription factor 4	595	Helix-loop-helix motif.				positive regulation of neuron differentiation|protein-DNA complex assembly|transcription initiation from RNA polymerase II promoter	transcription factor complex	E-box binding|protein C-terminus binding|protein heterodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding RNA polymerase recruiting transcription factor activity|TFIIB-class binding transcription factor activity|TFIIB-class transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	41				Colorectal(16;0.00108)|READ - Rectum adenocarcinoma(59;0.0649)|COAD - Colon adenocarcinoma(17;0.0718)		TCACTCTTGAGGTGGAGCTGC	0.617													T	52896162	G	T	52896162	3	4	364	1	0	0	0	0	1	0	0	0	15795	1000	35	4	228	4	TCF4	18	52896162	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	591	52896162	25181086	13012	36514											
WDR7	23335	broad.mit.edu	37	chr18	54398622	54398622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttttctcgcaggtgcattgGatcgttgtgtgatggggata	6	16	14	5	2	1	1	0	1	1	0	3	3	1	3	0	4	1	3	0	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54398622G>T	ENST00000254442.3	+	14	1994	c.1783G>T	c.(1783-1785)Gat>Tat	p.D595Y	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.D595Y	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	595										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGGTGCATTGGATCGTTGTGT	0.348													T	54398622	G	T	54398622	3	4	364	1	0	0	0	0	1	0	0	0	17422	1174	41	4	1833	4	WDR7	18	54398622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1502460	54398622	23678626	13013	36515											
WDR7	23335	broad.mit.edu	37	chr18	54424107	54424107	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaacacctccttgatgaTgaagaggaggatgaggagat	15	7	14	5	0	0	6	0	4	0	2	1	10	1	9	2	4	1	0	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54424107T>C	ENST00000254442.3	+	15	2494	c.2283T>C	c.(2281-2283)gaT>gaC	p.D761D	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Silent_p.D761D	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	761										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		TCCTTGATGATGAAGAGGAGG	0.413													C	54424107	T	C	54424107	2	2	364	1	0	0	0	0	0	0	0	1	17422	1461	51	3		3	WDR7	18	54424107	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25485	54424107	23653141	13014	36516											
WDR7	23335	broad.mit.edu	37	chr18	54629713	54629713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaatagcagttggagctCgccatggttcagtggccctg	9	9	13	10	1	1	1	1	0	0	1	2	2	1	2	2	3	2	4	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:54629713C>T	ENST00000254442.3	+	26	4328	c.4117C>T	c.(4117-4119)Cgc>Tgc	p.R1373C	WDR7_ENST00000589935.1_Intron|WDR7_ENST00000357574.3_Missense_Mutation_p.R1340C	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	1373										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		AGTTGGAGCTCGCCATGGTTC	0.423													T	54629713	C	T	54629713	3	4	364	1	0	0	0	0	1	0	0	0	17422	884	31	1	4215	1	WDR7	18	54629713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205606	54629713	23447535	13015	36517											
ONECUT2	9480	broad.mit.edu	37	chr18	55103710	55103710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactacggtccgccgggccaCgacaaaatgctcagccccaa	12	4	9	16	4	1	0	1	0	0	0	2	1	2	0	5	2	4	1	5	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55103710C>T	ENST00000491143.2	+	1	794	c.762C>T	c.(760-762)caC>caT	p.H254H		NM_004852.2	NP_004843.2	O95948	ONEC2_HUMAN	one cut homeobox 2	254					organ morphogenesis	nucleus	sequence-specific DNA binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(4)|ovary(2)|skin(1)	15		Colorectal(73;0.234)		READ - Rectum adenocarcinoma(59;0.227)|Colorectal(16;0.245)		CGCCGGGCCACGACAAAATGC	0.706													T	55103710	C	T	55103710	2	4	364	1	0	0	0	0	0	0	0	1	10945	535	19	1		1	ONECUT2	18	55103710	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	473997	55103710	22973538	13016	36518											
NARS	4677	broad.mit.edu	37	chr18	55283209	55283209	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctactgtcatcaaagccTtgggtagggaggagagaaaa	13	8	12	8	0	2	1	2	0	0	1	3	4	3	3	2	3	2	1	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55283209T>G	ENST00000256854.5	-	3	549		c.e3-2		NARS_ENST00000423481.2_Splice_Site	NM_004539.3	NP_004530.1	O43776	SYNC_HUMAN	asparaginyl-tRNA synthetase						asparaginyl-tRNA aminoacylation	cytosol|soluble fraction	asparagine-tRNA ligase activity|ATP binding|nucleic acid binding|protein binding			breast(1)|endometrium(5)|large_intestine(5)|lung(8)|skin(1)	20		Colorectal(73;0.227)			L-Asparagine(DB00174)	CATCAAAGCCTTGGGTAGGGA	0.348													G	55283209	T	G	55283209	5	3	364	1	0	0	0	0	0	0	1	0	10246	1623	56	5	1602	5	NARS	18	55283209	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	179499	55283209	22794039	13017	36519											
ATP8B1	5205	broad.mit.edu	37	chr18	55328429	55328429	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatcatgttcacgtcattgGccccatctccgatggccagc	7	11	9	14	2	4	1	3	1	1	0	5	2	4	1	4	2	1	1	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55328429G>T	ENST00000536015.1	-	22	2803	c.2684C>A	c.(2683-2685)gCc>gAc	p.A895D	RP11-35G9.3_ENST00000591854.1_RNA|RP11-35G9.3_ENST00000592201.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.A895D|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	895					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				CACGTCATTGGCCCCATCTCC	0.567													T	55328429	G	T	55328429	3	4	364	1	0	0	0	0	1	0	0	0	1199	1203	42	4	1099	4	ATP8B1	18	55328429	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45220	55328429	22748819	13018	36520											
ATP8B1	5205	broad.mit.edu	37	chr18	55351303	55351303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgactgtgtggcaaactGcgagcaagaagaagaactgt	14	7	12	8	1	0	4	0	1	0	3	0	5	0	4	1	1	4	2	1	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:55351303G>A	ENST00000536015.1	-	15	1714	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	ATP8B1_ENST00000283684.4_Missense_Mutation_p.A532V|RP11-35G9.3_ENST00000599199.1_RNA|RP11-35G9.5_ENST00000588925.1_RNA	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	532					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTGGCAAACTGCGAGCAAGAA	0.453													A	55351303	G	A	55351303	3	1	364	1	0	0	0	0	1	0	0	0	1199	1319	46	2	2216	2	ATP8B1	18	55351303	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22874	55351303	22725945	13019	36521											
ALPK2	115701	broad.mit.edu	37	chr18	56196431	56196431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttccagagtgttcaGggaacatctcagcttggatc	10	13	9	9	0	2	1	2	0	1	1	5	3	3	3	1	2	3	2	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56196431G>T	ENST00000361673.3	-	6	5606	c.5393C>A	c.(5392-5394)cCt>cAt	p.P1798H		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1798	Ig-like 2.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAGTGTTCAGGGAACATCTC	0.363													T	56196431	G	T	56196431	3	4	364	1	0	0	0	0	1	0	0	0	545	1000	35	4	1151	4	ALPK2	18	56196431	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	845128	56196431	21880817	13020	36522											
ALPK2	115701	broad.mit.edu	37	chr18	56202619	56202619	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtaagatcaggagaagaGggcaaaggtttcccacgctc	12	7	13	9	1	1	3	1	0	0	3	3	4	2	3	1	4	0	4	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56202619G>T	ENST00000361673.3	-	5	5013	c.4800C>A	c.(4798-4800)ccC>ccA	p.P1600P		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1600							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGGAGAAGAGGGCAAAGGTT	0.433													T	56202619	G	T	56202619	2	4	364	1	0	0	0	0	0	0	0	1	545	987	35	4		4	ALPK2	18	56202619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6188	56202619	21874629	13021	36523											
ALPK2	115701	broad.mit.edu	37	chr18	56205160	56205160	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgccttgagaacacaccTggggacatagtctcatcatt	12	10	9	10	0	2	2	2	1	1	2	3	4	2	3	2	2	2	0	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56205160T>C	ENST00000361673.3	-	5	2472	c.2259A>G	c.(2257-2259)ccA>ccG	p.P753P	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	753							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						AGAACACACCTGGGGACATAG	0.493													C	56205160	T	C	56205160	2	2	364	1	0	0	0	0	0	0	0	1	545	1567	55	3		3	ALPK2	18	56205160	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2541	56205160	21872088	13022	36524											
MALT1	10892	broad.mit.edu	37	chr18	56376782	56376782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacatgagaccaaaaagctAtacatggtaggaagttgatt	17	9	9	6	0	0	2	0	2	0	1	0	4	0	3	1	2	2	3	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56376782A>G	ENST00000348428.3	+	5	1080	c.822A>G	c.(820-822)ctA>ctG	p.L274L	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Silent_p.L274L	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	274	Ig-like C2-type 2.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CCAAAAAGCTATACATGGTAG	0.368			T	BIRC3	MALT								G	56376782	A	G	56376782	2	3	364	1	0	0	0	0	0	0	0	1	9277	436	16	3		3	MALT1	18	56376782	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	171622	56376782	21700466	13023	36525											
ZNF532	55205	broad.mit.edu	37	chr18	56586058	56586058	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgataagctgaaggcactcgGaggggaaaactccagcaaaa	16	4	12	9	2	0	1	0	1	0	0	2	4	1	3	1	4	3	3	1	4	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586058G>T	ENST00000336078.4	+	4	1315	c.539G>T	c.(538-540)gGa>gTa	p.G180V	ZNF532_ENST00000591083.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591230.1_Missense_Mutation_p.G180V|ZNF532_ENST00000591808.1_Missense_Mutation_p.G180V|ZNF532_ENST00000589288.1_Missense_Mutation_p.G180V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	180					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AAGGCACTCGGAGGGGAAAAC	0.507													T	56586058	G	T	56586058	3	4	364	1	0	0	0	0	1	0	0	0	18073	1174	41	4	541	4	ZNF532	18	56586058	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	209276	56586058	21491190	13024	36526											
ZNF532	55205	broad.mit.edu	37	chr18	56586209	56586209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggataaattgaaggaaagCtctgacaaggtgctggaaaa	17	7	13	4	0	1	2	0	2	1	0	1	6	1	5	0	4	2	2	0	4	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586209C>A	ENST00000336078.4	+	4	1466	c.690C>A	c.(688-690)agC>agA	p.S230R	ZNF532_ENST00000591083.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591230.1_Missense_Mutation_p.S230R|ZNF532_ENST00000591808.1_Missense_Mutation_p.S230R|ZNF532_ENST00000589288.1_Missense_Mutation_p.S230R	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TGAAGGAAAGCTCTGACAAGG	0.438													A	56586209	C	A	56586209	3	1	364	1	0	0	0	0	1	0	0	0	18073	796	28	4	692	4	ZNF532	18	56586209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	151	56586209	21491039	13025	36527											
ZNF532	55205	broad.mit.edu	37	chr18	56586416	56586416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcgagggaatcctccccGttaccaaaagaagtaaatga	16	8	8	9	2	0	2	0	1	0	1	3	4	2	3	4	1	1	2	4	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586416G>A	ENST00000336078.4	+	4	1673	c.897G>A	c.(895-897)ccG>ccA	p.P299P	ZNF532_ENST00000591083.1_Silent_p.P299P|ZNF532_ENST00000591230.1_Silent_p.P299P|ZNF532_ENST00000591808.1_Silent_p.P299P|ZNF532_ENST00000589288.1_Silent_p.P299P	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATCCTCCCCGTTACCAAAAG	0.542													A	56586416	G	A	56586416	2	1	364	1	0	0	0	0	0	0	0	1	18073	1132	40	1		1	ZNF532	18	56586416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207	56586416	21490832	13026	36528											
ZNF532	55205	broad.mit.edu	37	chr18	56586803	56586803	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcctctccagtctgcggtCgtgaccaatgcagtttcccc	5	10	10	16	3	2	1	0	1	2	0	5	1	3	1	5	1	2	2	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56586803C>T	ENST00000336078.4	+	4	2060	c.1284C>T	c.(1282-1284)gtC>gtT	p.V428V	ZNF532_ENST00000591083.1_Silent_p.V428V|ZNF532_ENST00000591230.1_Silent_p.V428V|ZNF532_ENST00000591808.1_Silent_p.V428V|ZNF532_ENST00000589288.1_Silent_p.V428V	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	428					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AGTCTGCGGTCGTGACCAATG	0.602													T	56586803	C	T	56586803	2	4	364	1	0	0	0	0	0	0	0	1	18073	871	31	1		1	ZNF532	18	56586803	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	387	56586803	21490445	13027	36529											
ZNF532	55205	broad.mit.edu	37	chr18	56587422	56587422	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagagtctgacccagcacTacgacagacggagcgtgcgc	13	4	12	12	4	1	3	0	1	1	2	1	5	1	4	1	1	4	1	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56587422T>C	ENST00000336078.4	+	4	2679	c.1903T>C	c.(1903-1905)Tac>Cac	p.Y635H	ZNF532_ENST00000591083.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591230.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000591808.1_Missense_Mutation_p.Y635H|ZNF532_ENST00000589288.1_Missense_Mutation_p.Y635H	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						GACCCAGCACTACGACAGACG	0.537													C	56587422	T	C	56587422	3	2	364	1	0	0	0	0	1	0	0	0	18073	1522	53	3	1905	3	ZNF532	18	56587422	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	619	56587422	21489826	13028	36530											
ZNF532	55205	broad.mit.edu	37	chr18	56646333	56646333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgacaagtctttcagctCgtcccacagcctgtgccggc	6	10	11	14	2	2	1	1	1	1	0	4	1	3	1	3	1	3	1	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56646333C>T	ENST00000336078.4	+	9	3973	c.3197C>T	c.(3196-3198)tCg>tTg	p.S1066L	ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591083.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591230.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000591808.1_Missense_Mutation_p.S1066L|ZNF532_ENST00000589288.1_Missense_Mutation_p.S1066L	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1066					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						TCTTTCAGCTCGTCCCACAGC	0.507													T	56646333	C	T	56646333	3	4	364	1	0	0	0	0	1	0	0	0	18073	893	31	1	3219	1	ZNF532	18	56646333	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58911	56646333	21430915	13029	36531											
ZNF532	55205	broad.mit.edu	37	chr18	56648824	56648824	+	Frame_Shift_Del	DEL	A	A	-																															agatgccaccaatgaggaggAaacagaaataaaagaagaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:56648824delA	ENST00000336078.4	+	10	4162	c.3386delA	c.(3385-3387)gaafs	p.E1129fs	ZNF532_ENST00000591083.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000589288.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000588956.1_3'UTR|ZNF532_ENST00000591808.1_Frame_Shift_Del_p.E1129fs|ZNF532_ENST00000591230.1_Frame_Shift_Del_p.E1129fs	NM_018181.4	NP_060651.2	Q9HCE3	ZN532_HUMAN	zinc finger protein 532	1129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(14)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(4)|urinary_tract(1)	52						AATGAGGAGGAAACAGAAATA	0.408													-	56648824	A	-	56648824	7	5	364	1	0	1	0	1	0	0	0	0	18073	246	9	0	3412	0	ZNF532	18	56648824	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	2491	56648824	21428424	13030	36532											
CCBE1	147372	broad.mit.edu	37	chr18	57134065	57134065	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagcggtagctgcccaaGgtattgatgcagatgtgggc	8	9	15	9	2	0	2	0	1	0	1	1	2	0	2	1	3	4	5	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:57134065G>T	ENST00000439986.4	-	5	496	c.459C>A	c.(457-459)acC>acA	p.T153T	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	153	EGF-like; calcium-binding (Potential).				lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				AGCTGCCCAAGGTATTGATGC	0.488													T	57134065	G	T	57134065	2	4	364	1	0	0	0	0	0	0	0	1	2757	987	35	4		4	CCBE1	18	57134065	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	485241	57134065	20943183	13031	36533											
MC4R	4160	broad.mit.edu	37	chr18	58039275	58039275	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtttaatagggtgatgAcaatggtttctgatccattt	10	17	9	5	0	1	3	0	3	1	0	2	3	2	3	1	2	1	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039275A>G	ENST00000299766.3	-	1	726	c.308T>C	c.(307-309)gTc>gCc	p.V103A		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	103			V -> I (in dbSNP:rs2229616).		feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				TAGGGTGATGACAATGGTTTC	0.433													G	58039275	A	G	58039275	3	3	364	1	0	0	0	0	1	0	0	0	9441	275	10	3	694	3	MC4R	18	58039275	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	905210	58039275	20037973	13032	36534											
MC4R	4160	broad.mit.edu	37	chr18	58039503	58039503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttttccaagggactcactgGcattgctgtgcagtctgtaa	8	13	10	10	0	2	0	1	0	1	0	3	1	3	1	1	2	2	4	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:58039503G>A	ENST00000299766.3	-	1	498	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	27					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GGACTCACTGGCATTGCTGTG	0.532													A	58039503	G	A	58039503	3	1	364	1	0	0	0	0	1	0	0	0	9441	1203	42	2	922	2	MC4R	18	58039503	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228	58039503	20037745	13033	36535											
CDH20	28316	broad.mit.edu	37	chr18	59166563	59166563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaggaaagagcccagtatActctaagggctcaagcccta	14	6	11	10	0	2	2	1	0	1	2	2	4	2	3	2	2	3	2	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59166563A>G	ENST00000262717.4	+	3	789	c.391A>G	c.(391-393)Act>Gct	p.T131A	CDH20_ENST00000538374.1_Missense_Mutation_p.T131A|CDH20_ENST00000536675.2_Missense_Mutation_p.T131A			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	131	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				AGCCCAGTATACTCTAAGGGC	0.542													G	59166563	A	G	59166563	3	3	364	1	0	0	0	0	1	0	0	0	3136	391	14	3	397	3	CDH20	18	59166563	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1127060	59166563	18910685	13034	36536											
CDH20	28316	broad.mit.edu	37	chr18	59170288	59170288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcagcttggaggattagCtgggaccacaacagtcaaca	13	6	13	9	0	1	0	1	0	0	0	1	3	1	3	1	4	4	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59170288C>T	ENST00000262717.4	+	5	1162	c.764C>T	c.(763-765)gCt>gTt	p.A255V	CDH20_ENST00000538374.1_Missense_Mutation_p.A255V|CDH20_ENST00000536675.2_Missense_Mutation_p.A255V			Q9HBT6	CAD20_HUMAN	cadherin 20, type 2	255	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|skin(3)	61		Colorectal(73;0.186)				GGAGGATTAGCTGGGACCACA	0.507											OREG0025026	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59170288	C	T	59170288	3	4	364	1	0	0	0	0	1	0	0	0	3136	797	28	2	778	2	CDH20	18	59170288	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3725	59170288	18906960	13035	36537											
PIGN	23556	broad.mit.edu	37	chr18	59777194	59777194	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaaaactacaaggcaggaGatggcttggtttctgaaaaa	16	9	10	6	0	1	2	0	1	1	1	1	3	1	2	0	4	3	3	0	4	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59777194G>T	ENST00000357637.5	-	17	1862	c.1447C>A	c.(1447-1449)Ctc>Atc	p.L483I	PIGN_ENST00000400334.3_Missense_Mutation_p.L483I	NM_176787.4	NP_789744.1	O95427	PIGN_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class N	483					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphotransferase activity, for other substituted phosphate groups			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(73;0.187)				CAAGGCAGGAGATGGCTTGGT	0.338													T	59777194	G	T	59777194	3	4	364	1	0	0	0	0	1	0	0	0	11970	942	33	4	1408	4	PIGN	18	59777194	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	606906	59777194	18300054	13036	36538											
KIAA1468	57614	broad.mit.edu	37	chr18	59947632	59947632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaagcgttagttgacaagCgggttgctccggcccttgtt	6	12	14	9	3	0	2	0	2	0	0	1	2	1	2	2	2	3	5	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:59947632C>T	ENST00000398130.2	+	23	3239	c.3007C>T	c.(3007-3009)Cgg>Tgg	p.R1003W	KIAA1468_ENST00000256858.6_Intron	NM_020854.3	NP_065905.2	Q9P260	K1468_HUMAN	KIAA1468	1003							binding			autonomic_ganglia(1)|breast(4)|endometrium(4)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	47		Colorectal(73;0.186)				AGTTGACAAGCGGGTTGCTCC	0.438													T	59947632	C	T	59947632	3	4	364	1	0	0	0	0	1	0	0	0	8294	759	27	1	3097	1	KIAA1468	18	59947632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	170438	59947632	18129616	13037	36539											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60029004	60029004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atctttggcgtttgctatagGaaaaaagggaaagcactcac	14	10	10	7	1	2	0	1	0	1	0	2	2	2	2	0	3	2	3	0	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60029004G>T	ENST00000586569.1	+	7	746	c.708G>T	c.(706-708)agG>agT	p.R236S	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	236					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TTTGCTATAGGAAAAAAGGGA	0.423													T	60029004	G	T	60029004	3	4	364	1	0	0	0	0	1	0	0	0	16384	1165	41	4	734	4	TNFRSF11A	18	60029004	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81372	60029004	18048244	13038	36540											
TNFRSF11A	8792	broad.mit.edu	37	chr18	60036460	60036460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcccgcactgggcagccaGccccagccccaactgggcag	7	4	12	18	1	0	0	0	0	0	0	0	0	0	0	6	2	5	3	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60036460G>T	ENST00000586569.1	+	9	1348	c.1310G>T	c.(1309-1311)aGc>aTc	p.S437I	TNFRSF11A_ENST00000269485.7_Intron	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	437					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				TGGGCAGCCAGCCCCAGCCCC	0.612													T	60036460	G	T	60036460	3	4	364	1	0	0	0	0	1	0	0	0	16384	971	34	4	1344	4	TNFRSF11A	18	60036460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7456	60036460	18040788	13039	36541											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242354	60242354	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcaggtccttgtggtTcttgtgggcgaaggtgcagc	4	12	17	8	1	2	0	1	0	1	0	3	1	3	0	1	5	2	3	1	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60242354T>C	ENST00000269499.5	+	13	3458	c.3040T>C	c.(3040-3042)Tct>Cct	p.S1014P	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.S693P	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	1014					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCCTTGTGGTTCTTGTGGGCG	0.527													C	60242354	T	C	60242354	3	2	364	1	0	0	0	0	1	0	0	0	17688	1783	62	3	3090	3	ZCCHC2	18	60242354	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	205894	60242354	17834894	13040	36542											
PHLPP1	23239	broad.mit.edu	37	chr18	60527781	60527781	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaatttaaaacaaaacttCctaaggcagaaccctagcct	16	9	4	12	0	1	1	1	0	0	1	2	1	2	1	3	1	4	1	3	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60527781C>A	ENST00000400316.4	+	4	2258	c.477C>A	c.(475-477)ttC>ttA	p.F159L	PHLPP1_ENST00000262719.5_Missense_Mutation_p.F671L	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	671					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						AACAAAACTTCCTAAGGCAGA	0.502													A	60527781	C	A	60527781	3	1	364	1	0	0	0	0	1	0	0	0	11931	854	30	4	2027	4	PHLPP1	18	60527781	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285427	60527781	17549467	13041	36543											
PHLPP1	23239	broad.mit.edu	37	chr18	60645923	60645923	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgtgccgtcctccagcagCggcatggcttccgagattag	6	8	14	13	4	0	1	0	0	0	1	3	2	3	1	4	3	3	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60645923C>T	ENST00000400316.4	+	17	4658	c.2877C>T	c.(2875-2877)agC>agT	p.S959S	PHLPP1_ENST00000262719.5_Silent_p.S1471S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1471					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						CCTCCAGCAGCGGCATGGCTT	0.632													T	60645923	C	T	60645923	2	4	364	1	0	0	0	0	0	0	0	1	11931	767	27	1		1	PHLPP1	18	60645923	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118142	60645923	17431325	13042	36544											
BCL2	596	broad.mit.edu	37	chr18	60985307	60985307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagactcacatcaccaagtGcacctacccagcctccgtta	11	7	5	18	1	2	1	2	0	0	1	3	1	3	1	6	0	3	2	6	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:60985307G>T	ENST00000444484.1	-	2	1085	c.593C>A	c.(592-594)gCa>gAa	p.A198E	BCL2_ENST00000333681.4_Intron|BCL2_ENST00000589955.1_Missense_Mutation_p.A198E|BCL2_ENST00000398117.1_Intron	NM_000657.2	NP_000648.2	P10415	BCL2_HUMAN	B-cell CLL/lymphoma 2	0					activation of pro-apoptotic gene products|anti-apoptosis|apoptosis in response to endoplasmic reticulum stress|B cell proliferation|B cell receptor signaling pathway|defense response to virus|female pregnancy|humoral immune response|induction of apoptosis by intracellular signals|negative regulation of cellular pH reduction|negative regulation of mitochondrial depolarization|negative regulation of neuron apoptosis|neuron apoptosis|positive regulation of B cell proliferation|positive regulation of cell growth|protein polyubiquitination|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|regulation of transmembrane transporter activity|release of cytochrome c from mitochondria|response to cytokine stimulus|response to DNA damage stimulus|response to drug|response to iron ion|response to nicotine|response to toxin	endoplasmic reticulum membrane|mitochondrial outer membrane|nuclear membrane|pore complex	BH3 domain binding|channel activity|protease binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(106)|kidney(1)|large_intestine(1)|lung(3)	113		all_hematologic(56;1.18e-20)|Prostate(75;0.0872)		Lung(128;0.0234)|READ - Rectum adenocarcinoma(59;0.0935)	Docetaxel(DB01248)|Fludarabine(DB01073)|Melatonin(DB01065)|Paclitaxel(DB01229)|Rasagiline(DB01367)	ATCACCAAGTGCACCTACCCA	0.632			T	IGH@	"NHL, CLL"								T	60985307	G	T	60985307	3	4	364	1	0	0	0	0	1	0	0	0	1370	1319	46	4	167	4	BCL2	18	60985307	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	339384	60985307	17091941	13043	36545											
SERPINB12	89777	broad.mit.edu	37	chr18	61225673	61225673	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaaaagtgctggctgacaGctctctggaggggcagaaaa	14	6	13	8	0	1	2	0	1	1	1	2	3	1	3	0	4	2	4	0	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61225673G>T	ENST00000382768.1	+	2	257	c.257G>T	c.(256-258)aGc>aTc	p.S86I	SERPINB12_ENST00000269491.1_Intron			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	81					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						CTGGCTGACAGCTCTCTGGAG	0.443													T	61225673	G	T	61225673	3	4	364	1	0	0	0	0	1	0	0	0	14192	986	34	4		4	SERPINB12	18	61225673	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240366	61225673	16851575	13044	36546											
SERPINB13	5275	broad.mit.edu	37	chr18	61264593	61264593	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcggcagattttcttctcCttaagatgatcgttgccatg	7	16	8	10	2	2	3	0	1	2	2	5	3	2	3	2	1	1	2	2	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61264593C>A	ENST00000344731.5	+	8	1274	c.1172C>A	c.(1171-1173)cCt>cAt	p.P391H	SERPINB13_ENST00000269489.5_Missense_Mutation_p.P339H	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	391					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						TTTTCTTCTCCTTAAGATGAT	0.403													A	61264593	C	A	61264593	3	1	364	1	0	0	0	0	1	0	0	0	14193	681	24	4	1198	4	SERPINB13	18	61264593	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38920	61264593	16812655	13045	36547											
SERPINB7	8710	broad.mit.edu	37	chr18	61459678	61459678	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaactcttctaatagtcagGtaaagacaatatgttctttt	14	15	6	6	0	4	1	1	0	3	1	4	2	4	1	0	1	1	2	0	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61459678G>A	ENST00000398019.2	+	3	544		c.e3+1		SERPINB7_ENST00000540675.1_Intron|SERPINB7_ENST00000546027.1_Splice_Site|SERPINB7_ENST00000336429.2_Splice_Site	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TAATAGTCAGGTAAAGACAAT	0.443													A	61459678	G	A	61459678	5	1	364	1	0	0	0	0	0	0	1	0	14199	1275	44	2	226	2	SERPINB7	18	61459678	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	195085	61459678	16617570	13046	36548											
SERPINB10	5273	broad.mit.edu	37	chr18	61597398	61597398	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttagtgcaaaacaccacaGaaaagccttttagaataaac	18	9	5	9	0	1	2	0	0	1	2	1	2	1	2	2	0	4	1	2	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:61597398G>T	ENST00000238508.3	+	6	669	c.610G>T	c.(610-612)Gaa>Taa	p.E204*		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				AAACACCACAGAAAAGCCTTT	0.373													T	61597398	G	T	61597398	4	4	364	1	0	0	0	0	0	1	0	0	14190	943	33	4	628	4	SERPINB10	18	61597398	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137720	61597398	16479850	13047	36549											
CDH19	28513	broad.mit.edu	37	chr18	64211990	64211990	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattccttcttgagtttcaTgattagtaataatgtcaaat	12	18	5	6	0	3	2	2	2	1	0	4	2	4	2	1	0	0	2	1	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:64211990T>C	ENST00000262150.2	-	6	1218	c.926A>G	c.(925-927)cAt>cGt	p.H309R	CDH19_ENST00000540086.1_Missense_Mutation_p.H309R	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	309	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				TTGAGTTTCATGATTAGTAAT	0.303													C	64211990	T	C	64211990	3	2	364	1	0	0	0	0	1	0	0	0	3134	1464	51	3	1420	3	CDH19	18	64211990	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2614592	64211990	13865258	13048	36550											
DSEL	92126	broad.mit.edu	37	chr18	65181680	65181680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaagcatacttttcttcaGcttttggttgggtctgaaat	9	17	9	6	0	3	2	1	2	2	0	3	2	3	2	0	2	3	3	0	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:65181680G>T	ENST00000310045.7	-	2	1669	c.196C>A	c.(196-198)Ctg>Atg	p.L66M		NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	56						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				CTTTTCTTCAGCTTTTGGTTG	0.378													T	65181680	G	T	65181680	3	4	364	1	0	0	0	0	1	0	0	0	4814	962	34	4	3476	4	DSEL	18	65181680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	969690	65181680	12895568	13049	36551											
TMX3	54495	broad.mit.edu	37	chr18	66381119	66381119	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaatcctttacagacgAccatatcaagtacaacaact	17	9	3	12	1	1	1	1	0	0	1	2	2	2	1	2	0	5	1	2	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66381119A>G	ENST00000299608.2	-	2	381	c.65T>C	c.(64-66)gTc>gCc	p.V22A	TMX3_ENST00000562706.1_Missense_Mutation_p.V22A|TMX3_ENST00000443099.2_Missense_Mutation_p.V22A	NM_019022.3	NP_061895.3	Q96JJ7	TMX3_HUMAN	thioredoxin-related transmembrane protein 3	22					cell redox homeostasis|glycerol ether metabolic process	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	17						TTTACAGACGACCATATCAAG	0.284													G	66381119	A	G	66381119	3	3	364	1	0	0	0	0	1	0	0	0	16368	275	10	3	1359	3	TMX3	18	66381119	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1199439	66381119	11696129	13050	36552											
CCDC102B	79839	broad.mit.edu	37	chr18	66564467	66564467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtgtagctagagagattGcaagctgaaaatacctcgga	13	10	12	6	1	0	3	0	1	0	2	1	5	0	4	1	1	4	4	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66564467G>A	ENST00000360242.5	+	6	1182	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	CCDC102B_ENST00000584156.1_Silent_p.L355L|CCDC102B_ENST00000319445.6_Silent_p.L355L|CCDC102B_ENST00000358653.5_Silent_p.L355L|CCDC102B_ENST00000577772.1_3'UTR	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	355										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				TAGAGAGATTGCAAGCTGAAA	0.433													A	66564467	G	A	66564467	2	1	364	1	0	0	0	0	0	0	0	1	2763	1310	46	2		2	CCDC102B	18	66564467	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183348	66564467	11512781	13051	36553											
CCDC102B	79839	broad.mit.edu	37	chr18	66721309	66721309	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtaagctccagaggtctCtggatgaagagaaagaaaga	15	7	12	7	1	1	5	0	1	1	4	4	7	3	6	2	2	1	2	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:66721309C>A	ENST00000360242.5	+	8	1594	c.1477C>A	c.(1477-1479)Ctg>Atg	p.L493M	CCDC102B_ENST00000319445.6_Missense_Mutation_p.L493M	NM_024781.2	NP_079057	Q68D86	C102B_HUMAN	coiled-coil domain containing 102B	493										breast(2)|endometrium(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|stomach(1)	36		Esophageal squamous(42;0.0559)|Colorectal(73;0.0604)				CCAGAGGTCTCTGGATGAAGA	0.373													A	66721309	C	A	66721309	3	1	364	1	0	0	0	0	1	0	0	0	2763	912	32	4	1503	4	CCDC102B	18	66721309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156842	66721309	11355939	13052	36554											
CD226	10666	broad.mit.edu	37	chr18	67563180	67563180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatcttttcccacctcactgCctgcacaggccacgtcatct	7	11	6	17	1	4	0	2	0	2	0	5	1	5	0	4	1	2	1	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67563180C>T	ENST00000280200.4	-	4	752	c.484G>A	c.(484-486)Gca>Aca	p.A162T	CD226_ENST00000581982.1_Missense_Mutation_p.A7T|CD226_ENST00000577287.1_Missense_Mutation_p.A7T|CD226_ENST00000582621.1_Missense_Mutation_p.A162T	NM_006566.2	NP_006557.2	Q15762	CD226_HUMAN	CD226 molecule	162	Ig-like C2-type 2.				cell adhesion|cell recognition|positive regulation of Fc receptor mediated stimulatory signaling pathway|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	cell surface|integral to plasma membrane|membrane raft	cell adhesion molecule binding|integrin binding|protein kinase binding|receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	24		Esophageal squamous(42;0.129)				CACCTCACTGCCTGCACAGGC	0.488													T	67563180	C	T	67563180	3	4	364	1	0	0	0	0	1	0	0	0	3016	739	26	2	542	2	CD226	18	67563180	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	841871	67563180	10514068	13053	36555											
RTTN	25914	broad.mit.edu	37	chr18	67725039	67725039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctctgagttcctggacaCatgtctgtatgagggtagca	8	11	14	8	0	2	2	0	2	2	0	3	3	3	3	1	3	1	5	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67725039C>T	ENST00000255674.6	-	37	5256	c.4970G>A	c.(4969-4971)tGt>tAt	p.C1657Y	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1657							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TTCCTGGACACATGTCTGTAT	0.413													T	67725039	C	T	67725039	3	4	364	1	0	0	0	0	1	0	0	0	13828	478	17	2	1762	2	RTTN	18	67725039	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161859	67725039	10352209	13054	36556											
RTTN	25914	broad.mit.edu	37	chr18	67742591	67742591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagatatcgtacttaccatTtaaatcattgctttctgaat	14	16	4	7	1	2	2	1	1	1	1	3	2	2	2	1	0	3	2	1	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67742591T>G	ENST00000255674.6	-	33	4847	c.4561A>C	c.(4561-4563)Aat>Cat	p.N1521H	RTTN_ENST00000454359.1_3'UTR|RTTN_ENST00000437017.1_Missense_Mutation_p.N1521H	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1521							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				TACTTACCATTTAAATCATTG	0.239													G	67742591	T	G	67742591	3	3	364	1	0	0	0	0	1	0	0	0	13828	1841	64	5	2187	5	RTTN	18	67742591	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17552	67742591	10334657	13055	36557											
RTTN	25914	broad.mit.edu	37	chr18	67812937	67812937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactctggagagaactctggCgtctattagaggacgctttg	10	11	12	8	2	3	2	0	0	3	2	3	5	3	4	0	3	2	1	0	3	4	3	rs143585515	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67812937C>T	ENST00000255674.6	-	18	2678	c.2392G>A	c.(2392-2394)Gcc>Acc	p.A798T	RTTN_ENST00000454359.1_Missense_Mutation_p.A798T|RTTN_ENST00000437017.1_Missense_Mutation_p.A798T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	798							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AGAACTCTGGCGTCTATTAGA	0.418													T	67812937	C	T	67812937	3	4	364	1	0	0	0	0	1	0	0	0	13828	768	27	1	4416	1	RTTN	18	67812937	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70346	67812937	10264311	13056	36558											
SOCS6	9306	broad.mit.edu	37	chr18	67992683	67992683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcaagtgggagggcGcgctttccccgaggatgaga	7	8	14	12	3	1	1	1	1	0	1	4	5	4	3	4	3	0	1	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992683G>A	ENST00000397942.3	+	2	1095	c.779G>A	c.(778-780)cGc>cAc	p.R260H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R260H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	260					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)				GTGGGAGGGCGCGCTTTCCCC	0.547													A	67992683	G	A	67992683	3	1	364	1	0	0	0	0	1	0	0	0	15012	1087	38	1	781	1	SOCS6	18	67992683	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179746	67992683	10084565	13057	36559											
SOCS6	9306	broad.mit.edu	37	chr18	67992736	67992736	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctagttgtcgccccaGagatcttcgtggatcagtcc	8	10	11	12	2	2	1	1	0	1	1	5	4	3	3	4	2	0	1	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:67992736G>T	ENST00000397942.3	+	2	1148	c.832G>T	c.(832-834)Gag>Tag	p.E278*	SOCS6_ENST00000582322.1_Nonsense_Mutation_p.E278*	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	278					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)				TGTCGCCCCAGAGATCTTCGT	0.582													T	67992736	G	T	67992736	4	4	364	1	0	0	0	0	0	1	0	0	15012	943	33	4	834	4	SOCS6	18	67992736	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53	67992736	10084512	13058	36560											
NETO1	81832	broad.mit.edu	37	chr18	70417389	70417389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcatctgcagcatcttgCgagtagctgtgtttcatgac	8	12	11	10	1	3	1	1	1	2	0	3	2	3	1	0	1	4	6	0	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70417389C>T	ENST00000327305.6	-	9	2106	c.1449G>A	c.(1447-1449)tcG>tcA	p.S483S	NETO1_ENST00000583169.1_Silent_p.S483S|NETO1_ENST00000299430.2_Silent_p.S482S	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	483					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CAGCATCTTGCGAGTAGCTGT	0.502													T	70417389	C	T	70417389	2	4	364	1	0	0	0	0	0	0	0	1	10415	755	27	1		1	NETO1	18	70417389	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2424653	70417389	7659859	13059	36561											
NETO1	81832	broad.mit.edu	37	chr18	70451004	70451004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accccaagacccgtgcgtagCatgacatcattagccacagt	12	7	8	14	2	1	2	1	1	0	1	1	2	1	2	4	0	3	2	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:70451004C>T	ENST00000327305.6	-	7	1434	c.777G>A	c.(775-777)atG>atA	p.M259I	NETO1_ENST00000583169.1_Missense_Mutation_p.M259I|NETO1_ENST00000299430.2_Missense_Mutation_p.M258I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	259	CUB 2.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		CCGTGCGTAGCATGACATCAT	0.478													T	70451004	C	T	70451004	3	4	364	1	0	0	0	0	1	0	0	0	10415	710	25	2	840	2	NETO1	18	70451004	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33615	70451004	7626244	13060	36562											
CNDP2	55748	broad.mit.edu	37	chr18	72173218	72173218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaggacggctgggacagCgagcccttcaccctggtgga	7	6	16	12	2	1	0	1	0	0	0	1	5	1	4	2	6	2	1	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72173218C>T	ENST00000324262.4	+	4	655	c.339C>T	c.(337-339)agC>agT	p.S113S	CNDP2_ENST00000324301.8_Intron|CNDP2_ENST00000579847.1_Silent_p.S113S	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	113						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GCTGGGACAGCGAGCCCTTCA	0.617													T	72173218	C	T	72173218	2	4	364	1	0	0	0	0	0	0	0	1	3625	767	27	1		1	CNDP2	18	72173218	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1722214	72173218	5904030	13061	36563											
CNDP2	55748	broad.mit.edu	37	chr18	72178114	72178114	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggctctgagggcctagacGagctgatttttgcccggaaa	9	9	13	10	2	1	3	0	2	1	1	1	5	1	4	2	3	2	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72178114G>A	ENST00000324262.4	+	6	839	c.523G>A	c.(523-525)Gag>Aag	p.E175K	CNDP2_ENST00000324301.8_Missense_Mutation_p.E91K|CNDP2_ENST00000579847.1_Missense_Mutation_p.E175K	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	175						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGGCCTAGACGAGCTGATTTT	0.498													A	72178114	G	A	72178114	3	1	364	1	0	0	0	0	1	0	0	0	3625	1059	37	1	541	1	CNDP2	18	72178114	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4896	72178114	5899134	13062	36564											
CNDP2	55748	broad.mit.edu	37	chr18	72180853	72180853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattaacgaggccgtggccGccgtcacggaagaggagcac	10	4	15	12	5	1	1	1	0	0	1	1	4	1	3	3	4	2	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72180853G>A	ENST00000324262.4	+	8	1118	c.802G>A	c.(802-804)Gcc>Acc	p.A268T	CNDP2_ENST00000324301.8_Missense_Mutation_p.A184T|CNDP2_ENST00000579847.1_Missense_Mutation_p.A268T	NM_018235.2	NP_060705.2	Q96KP4	CNDP2_HUMAN	CNDP dipeptidase 2 (metallopeptidase M20 family)	268						cytoplasm	carboxypeptidase activity|metal ion binding|metallopeptidase activity|protein binding|tripeptidase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(5)|ovary(2)|skin(2)|stomach(3)	24		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.22)		GGCCGTGGCCGCCGTCACGGA	0.597													A	72180853	G	A	72180853	3	1	364	1	0	0	0	0	1	0	0	0	3625	1087	38	1	828	1	CNDP2	18	72180853	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2739	72180853	5896395	13063	36565											
CNDP1	84735	broad.mit.edu	37	chr18	72244143	72244143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggtcatatcctggtccctgGaatctatgatgaagtggttc	8	14	11	8	0	2	2	1	2	1	0	5	3	4	3	2	4	0	1	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72244143G>A	ENST00000582365.1	+	7	818	c.752G>A	c.(751-753)gGa>gAa	p.G251E	CNDP1_ENST00000358821.3_Missense_Mutation_p.G294E			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	294					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity	p.G294E(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		CTGGTCCCTGGAATCTATGAT	0.453													A	72244143	G	A	72244143	3	1	364	1	0	0	0	0	1	0	0	0	3624	1174	41	2	911	2	CNDP1	18	72244143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63290	72244143	5833105	13064	36566											
CNDP1	84735	broad.mit.edu	37	chr18	72247449	72247449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactctaggactacacccGtggattgcaaatattgatga	13	11	9	8	1	1	3	0	3	1	0	1	5	1	5	1	2	2	1	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72247449G>A	ENST00000582365.1	+	9	1188	c.1122G>A	c.(1120-1122)ccG>ccA	p.P374P	CNDP1_ENST00000358821.3_Silent_p.P417P			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	417					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		GACTACACCCGTGGATTGCAA	0.438													A	72247449	G	A	72247449	2	1	364	1	0	0	0	0	0	0	0	1	3624	1132	40	1		1	CNDP1	18	72247449	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3306	72247449	5829799	13065	36567											
ZADH2	284273	broad.mit.edu	37	chr18	72913976	72913976	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagctgctgctgtcaccaAaacttttttcccttccgaca	8	12	5	16	1	1	0	1	0	0	0	3	1	3	0	4	0	4	3	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72913976A>G	ENST00000322342.3	-	2	818	c.529T>C	c.(529-531)Ttg>Ctg	p.L177L	ZADH2_ENST00000537114.2_Silent_p.L54L	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	177						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GCTGTCACCAAAACTTTTTTC	0.517													G	72913976	A	G	72913976	2	3	364	1	0	0	0	0	0	0	0	1	17613	11	1	3		3	ZADH2	18	72913976	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	666527	72913976	5163272	13066	36568											
TSHZ1	10194	broad.mit.edu	37	chr18	72999467	72999467	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaggccgagactgggaaggCcaaaaaggagggaccgctgg	12	3	18	8	2	0	2	0	1	0	1	0	6	0	5	3	6	0	1	3	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:72999467C>T	ENST00000322038.5	+	2	2554	c.1970C>T	c.(1969-1971)gCc>gTc	p.A657V	TSHZ1_ENST00000580243.1_Missense_Mutation_p.A702V	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	702						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		ACTGGGAAGGCCAAAAAGGAG	0.547													T	72999467	C	T	72999467	3	4	364	1	0	0	0	0	1	0	0	0	16724	739	26	2	1972	2	TSHZ1	18	72999467	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85491	72999467	5077781	13067	36569											
ZNF516	9658	broad.mit.edu	37	chr18	74091873	74091873	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacctcgcacttaaatctaGcggcatgaggtctggggcca	9	8	12	12	3	2	1	0	1	2	0	3	2	2	1	2	4	1	2	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74091873G>A	ENST00000443185.2	-	4	2514	c.2197C>T	c.(2197-2199)Cta>Tta	p.L733L	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		CTTAAATCTAGCGGCATGAGG	0.612													A	74091873	G	A	74091873	2	1	364	1	0	0	0	0	0	0	0	1	18061	962	34	2		2	ZNF516	18	74091873	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1092406	74091873	3985375	13068	36570											
ZNF236	7776	broad.mit.edu	37	chr18	74607198	74607198	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtactgcatgaagagcttCtccacctctggcagcctcaa	10	9	8	14	0	3	2	1	1	2	1	4	2	3	2	3	1	4	4	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74607198C>A	ENST00000253159.8	+	10	1839	c.1641C>A	c.(1639-1641)ttC>ttA	p.F547L	ZNF236_ENST00000320610.9_Missense_Mutation_p.F549L	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	547					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		TGAAGAGCTTCTCCACCTCTG	0.617													A	74607198	C	A	74607198	3	1	364	1	0	0	0	0	1	0	0	0	17890	912	32	4	1679	4	ZNF236	18	74607198	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	515325	74607198	3470050	13069	36571											
ZNF236	7776	broad.mit.edu	37	chr18	74631731	74631731	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccttgattttgtgtaGacatttgtatggaggaagag	9	17	11	4	0	0	3	0	1	0	2	1	5	1	5	1	2	0	2	1	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74631731G>T	ENST00000253159.8	+	20	3466		c.e20-1		ZNF236_ENST00000320610.9_Splice_Site	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236						cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		ATTTTGTGTAGACATTTGTAT	0.373													T	74631731	G	T	74631731	5	4	364	1	0	0	0	0	0	0	1	0	17890	956	33	4	3346	4	ZNF236	18	74631731	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24533	74631731	3445517	13070	36572											
ZNF236	7776	broad.mit.edu	37	chr18	74637348	74637348	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccagaaagcctatgactCgaagctcatcggaaggactg	13	6	12	10	2	1	2	1	1	0	1	3	5	1	4	2	3	2	1	2	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74637348C>T	ENST00000253159.8	+	22	4057	c.3859C>T	c.(3859-3861)Cga>Tga	p.R1287*	ZNF236_ENST00000320610.9_Nonsense_Mutation_p.R1289*	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1287					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GCCTATGACTCGAAGCTCATC	0.483													T	74637348	C	T	74637348	4	4	364	1	0	0	0	0	0	1	0	0	17890	876	31	1	3945	1	ZNF236	18	74637348	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5617	74637348	3439900	13071	36573											
MBP	4155	broad.mit.edu	37	chr18	74696744	74696744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttaccagcttaaaaattTtggaaagcgtgccctgggca	12	10	9	10	1	0	0	0	0	0	0	0	1	0	1	3	2	4	2	3	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:74696744T>C	ENST00000355994.2	-	8	1120	c.857A>G	c.(856-858)aAa>aGa	p.K286R	MBP_ENST00000397865.5_Missense_Mutation_p.K142R|MBP_ENST00000397875.3_Missense_Mutation_p.K163R|MBP_ENST00000354542.4_Intron|MBP_ENST00000528160.1_Missense_Mutation_p.K37E|MBP_ENST00000526111.1_Missense_Mutation_p.K131R|MBP_ENST00000397869.3_Missense_Mutation_p.K218R|MBP_ENST00000397866.4_Missense_Mutation_p.K153R|MBP_ENST00000382582.3_Missense_Mutation_p.K179R|MBP_ENST00000579129.1_Intron|MBP_ENST00000580402.1_Missense_Mutation_p.K286R|MBP_ENST00000578193.1_Missense_Mutation_p.K153R|MBP_ENST00000359645.3_Missense_Mutation_p.K168R|MBP_ENST00000527041.1_Intron	NM_001025101.1	NP_001020272.1	P02686	MBP_HUMAN	myelin basic protein	286					central nervous system development|immune response|synaptic transmission	plasma membrane	structural constituent of myelin sheath			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.79e-06)|BRCA - Breast invasive adenocarcinoma(31;0.113)|READ - Rectum adenocarcinoma(1;0.188)		CTTAAAAATTTTGGAAAGCGT	0.557													C	74696744	T	C	74696744	3	2	364	1	0	0	0	0	1	0	0	0	9434	1841	64	3	65	3	MBP	18	74696744	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	59396	74696744	3380504	13072	36574											
SALL3	27164	broad.mit.edu	37	chr18	76754541	76754541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagaaccagatgaagatgatCgactcggtcatgagctgcca	13	7	12	9	2	1	6	1	3	0	3	3	8	1	6	2	1	3	1	2	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754541C>T	ENST00000536229.3	+	1	2860	c.2151C>T	c.(2149-2151)atC>atT	p.I717I	SALL3_ENST00000575389.2_Silent_p.I850I|SALL3_ENST00000537592.2_Silent_p.I850I			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		TGAAGATGATCGACTCGGTCA	0.667													T	76754541	C	T	76754541	2	4	364	1	0	0	0	0	0	0	0	1	13903	874	31	1		1	SALL3	18	76754541	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2057797	76754541	1322707	13073	36575											
SALL3	27164	broad.mit.edu	37	chr18	76754804	76754804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctcaagaccgagaggcCggacagcccagccgccgccc	8	1	12	20	5	1	2	1	0	0	2	1	4	1	3	7	2	2	1	7	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:76754804C>T	ENST00000536229.3	+	1	3123	c.2414C>T	c.(2413-2415)cCg>cTg	p.P805L	SALL3_ENST00000575389.2_Missense_Mutation_p.P938L|SALL3_ENST00000537592.2_Missense_Mutation_p.P938L			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		ACCGAGAGGCCGGACAGCCCA	0.741													T	76754804	C	T	76754804	3	4	364	1	0	0	0	0	1	0	0	0	13903	652	23	1	2819	1	SALL3	18	76754804	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263	76754804	1322444	13074	36576											
ATP9B	374868	broad.mit.edu	37	chr18	77105535	77105535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcccgcattgtgacactGctgcagcagcacacagggag	11	5	13	12	1	0	1	0	1	0	0	0	2	0	2	1	2	4	5	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77105535G>A	ENST00000426216.2	+	22	2597	c.2580G>A	c.(2578-2580)ctG>ctA	p.L860L	ATP9B_ENST00000307671.7_Silent_p.L860L|ATP9B_ENST00000543761.1_Silent_p.L181L	NM_198531.3	NP_940933.3	O43861	ATP9B_HUMAN	ATPase, class II, type 9B	860					ATP biosynthetic process	integral to membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(3)|prostate(1)|skin(2)|stomach(1)	38		Esophageal squamous(42;0.018)|Melanoma(33;0.0964)|Prostate(75;0.171)		OV - Ovarian serous cystadenocarcinoma(15;1.44e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0405)		TTGTGACACTGCTGCAGCAGC	0.607													A	77105535	G	A	77105535	2	1	364	1	0	0	0	0	0	0	0	1	1204	1306	46	2		2	ATP9B	18	77105535	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350731	77105535	971713	13075	36577											
NFATC1	4772	broad.mit.edu	37	chr18	77211710	77211710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgcctctggtggaGaagcagagcacggacagcta	11	5	15	10	1	1	2	0	0	1	2	1	5	1	4	1	4	5	4	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77211710G>T	ENST00000253506.5	+	6	2166	c.1797G>T	c.(1795-1797)gaG>gaT	p.E599D	NFATC1_ENST00000586434.1_Missense_Mutation_p.E586D|NFATC1_ENST00000329101.4_Missense_Mutation_p.E586D|NFATC1_ENST00000427363.2_Missense_Mutation_p.E599D|NFATC1_ENST00000397790.2_Missense_Mutation_p.E127D|NFATC1_ENST00000318065.5_Missense_Mutation_p.E586D|NFATC1_ENST00000592223.1_Missense_Mutation_p.E586D|NFATC1_ENST00000542384.1_Missense_Mutation_p.E599D|NFATC1_ENST00000591814.1_Missense_Mutation_p.E599D|NFATC1_ENST00000545796.1_Missense_Mutation_p.E127D|NFATC1_ENST00000587635.1_Missense_Mutation_p.R571I	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	599					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CTCTGGTGGAGAAGCAGAGCA	0.622													T	77211710	G	T	77211710	3	4	364	1	0	0	0	0	1	0	0	0	10437	933	33	4	1911	4	NFATC1	18	77211710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106175	77211710	865538	13076	36578											
ADNP2	22850	broad.mit.edu	37	chr18	77894587	77894587	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcacccctggggtcctgCaggctgtctcgccaggggtg	3	9	15	14	1	2	0	1	0	1	0	4	0	3	0	4	5	1	2	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77894587C>T	ENST00000262198.4	+	4	1746	c.1291C>T	c.(1291-1293)Cag>Tag	p.Q431*		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	431					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		TGGGGTCCTGCAGGCTGTCTC	0.632													T	77894587	C	T	77894587	4	4	364	1	0	0	0	0	0	1	0	0	324	711	25	2	1301	2	ADNP2	18	77894587	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	682877	77894587	182661	13077	36579											
ADNP2	22850	broad.mit.edu	37	chr18	77895757	77895757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccaatggcaacctgctctttCcccaccttgatttcatcacc	8	12	4	17	0	3	1	2	1	1	0	4	1	4	1	6	1	2	2	6	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77895757C>T	ENST00000262198.4	+	4	2916	c.2461C>T	c.(2461-2463)Ccc>Tcc	p.P821S		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	821					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		CCTGCTCTTTCCCCACCTTGA	0.498													T	77895757	C	T	77895757	3	4	364	1	0	0	0	0	1	0	0	0	324	855	30	2	2471	2	ADNP2	18	77895757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1170	77895757	181491	13078	36580											
PARD6G	84552	broad.mit.edu	37	chr18	77918260	77918260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcacgctggcgccatcGcggatgtagaagcccagcgg	8	4	15	14	7	0	1	0	0	0	1	1	2	0	2	2	3	2	3	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr18:77918260G>A	ENST00000353265.3	-	3	722	c.525C>T	c.(523-525)cgC>cgT	p.R175R	AC139100.2_ENST00000587254.1_Intron|AC139100.2_ENST00000586421.1_Intron|AC139100.2_ENST00000585422.1_Intron|AC139100.2_ENST00000589574.1_Intron	NM_032510.3	NP_115899.1	Q9BYG4	PAR6G_HUMAN	par-6 family cell polarity regulator gamma	175	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				cell cycle|cell division|tight junction assembly	cytosol|tight junction	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	8		all_cancers(4;5.63e-22)|all_epithelial(4;5.86e-15)|all_lung(4;1.32e-05)|Ovarian(4;1.33e-05)|Lung NSC(4;2.77e-05)|Esophageal squamous(42;0.0157)|all_hematologic(56;0.13)|Melanoma(33;0.144)		Epithelial(2;1.48e-13)|all cancers(1;5.77e-13)|OV - Ovarian serous cystadenocarcinoma(15;2.74e-10)|BRCA - Breast invasive adenocarcinoma(31;0.00166)|STAD - Stomach adenocarcinoma(84;0.18)|Lung(128;0.23)		TGGCGCCATCGCGGATGTAGA	0.697													A	77918260	G	A	77918260	2	1	364	1	0	0	0	0	0	0	0	1	11523	1074	38	1		1	PARD6G	18	77918260	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22503	77918260	158988	13079	36581											
PPAP2C	8612	broad.mit.edu	37	chr19	287504	287504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcagcagggtttcccCtgcacaccttctccagctgc	7	10	8	16	0	2	1	1	1	1	0	4	1	3	1	4	1	4	4	4	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:287504C>A	ENST00000269812.3	-	3	501	c.452G>T	c.(451-453)aGg>aTg	p.R151M	PPAP2C_ENST00000327790.3_Missense_Mutation_p.R172M|PPAP2C_ENST00000434325.2_Missense_Mutation_p.R95M	NM_003712.2|NM_177526.1	NP_003703.1|NP_803545.1	O43688	LPP2_HUMAN	phosphatidic acid phosphatase type 2C	151					sphingolipid metabolic process	integral to membrane|plasma membrane	phosphatidate phosphatase activity|phosphoprotein phosphatase activity|sphingosine-1-phosphate phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(1)|lung(1)|skin(1)	5		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		AGGGTTTCCCCTGCACACCTT	0.597													A	287504	C	A	287504	3	1	364	1	0	0	0	0	1	0	0	0	12369	681	24	4	430	4	PPAP2C	19	287504	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		287504	58841479	13080	36582											
MIER2	54531	broad.mit.edu	37	chr19	327978	327978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcagctcatcaaagggCatgtcgttgctctgagttgg	9	10	13	9	1	3	1	2	1	1	0	4	1	3	1	0	2	3	7	0	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:327978C>T	ENST00000264819.4	-	4	265	c.255G>A	c.(253-255)atG>atA	p.M85I	MIER2_ENST00000592722.1_5'UTR	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	85					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CATCAAAGGGCATGTCGTTGC	0.617													T	327978	C	T	327978	3	4	364	1	0	0	0	0	1	0	0	0	9656	710	25	2	1426	2	MIER2	19	327978	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40474	327978	58801005	13081	36583											
SHC2	25759	broad.mit.edu	37	chr19	422274	422274	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctcgaagcatcctctCtgccgcccggcggctcatcc	5	8	10	18	4	3	0	2	0	1	0	7	1	5	0	4	2	3	3	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:422274C>A	ENST00000264554.6	-	11	1491	c.1492G>T	c.(1492-1494)Gag>Tag	p.E498*		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	498	SH2.				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		AGCATCCTCTCTGCCGCCCGG	0.706													A	422274	C	A	422274	4	1	364	1	0	0	0	0	0	1	0	0	14365	922	32	4	264	4	SHC2	19	422274	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94296	422274	58706709	13082	36584											
ODF3L2	284451	broad.mit.edu	37	chr19	463999	463999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagtgggcgccagggcCgggggtctcctccaggggtc	3	6	20	12	2	1	0	0	0	1	0	4	0	2	0	4	7	0	1	4	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:463999C>T	ENST00000315489.4	-	4	950	c.715G>A	c.(715-717)Ggc>Agc	p.G239S	ODF3L2_ENST00000382696.3_Missense_Mutation_p.G203S	NM_182577.2	NP_872383.1	Q3SX64	OD3L2_HUMAN	outer dense fiber of sperm tails 3-like 2	239	Pro-rich.									large_intestine(1)|lung(2)	3						GCGCCAGGGCCGGGGGTCTCC	0.701													T	463999	C	T	463999	3	4	364	1	0	0	0	0	1	0	0	0	10908	652	23	1	158	1	ODF3L2	19	463999	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41725	463999	58664984	13083	36585											
HCN2	610	broad.mit.edu	37	chr19	605215	605215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgggtgtccatcaatgGcatggtggtgagcgccgcgg	5	9	17	10	3	1	1	1	1	0	0	2	1	2	1	2	5	2	2	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:605215G>A	ENST00000251287.2	+	3	1264	c.1211G>A	c.(1210-1212)gGc>gAc	p.G404D		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	404					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|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)		TCCATCAATGGCATGGTGGTG	0.642													A	605215	G	A	605215	3	1	364	1	0	0	0	0	1	0	0	0	7052	1203	42	2	1221	2	HCN2	19	605215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141216	605215	58523768	13084	36586											
HCN2	610	broad.mit.edu	37	chr19	613983	613983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgatgcggcgcgccttcGagacggtggccatcgaccgc	6	6	14	15	7	0	2	0	1	0	1	2	4	0	2	4	3	1	0	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:613983G>A	ENST00000251287.2	+	7	2010	c.1957G>A	c.(1957-1959)Gag>Aag	p.E653K		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	653					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|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)		GCGCGCCTTCGAGACGGTGGC	0.711													A	613983	G	A	613983	3	1	364	1	0	0	0	0	1	0	0	0	7052	1059	37	1	1983	1	HCN2	19	613983	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8768	613983	58515000	13085	36587											
RNF126	55658	broad.mit.edu	37	chr19	648907	648907	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctcagtgacggggacGgtggggagggcctggatttt	5	10	18	8	2	1	1	1	1	0	0	2	4	2	4	2	7	1	1	2	7	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:648907G>A	ENST00000292363.5	-	7	800	c.645C>T	c.(643-645)acC>acT	p.T215T		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	215							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|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)		TGACGGGGACGGTGGGGAGGG	0.572													A	648907	G	A	648907	2	1	364	1	0	0	0	0	0	0	0	1	13526	1103	39	1		1	RNF126	19	648907	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34924	648907	58480076	13086	36588											
RNF126	55658	broad.mit.edu	37	chr19	650259	650259	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggctggggatggtggCgggcgtgatgatgccgttga	5	8	20	8	3	0	3	0	3	0	0	0	4	0	4	2	6	1	2	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:650259C>T	ENST00000292363.5	-	5	636	c.481G>A	c.(481-483)Gcc>Acc	p.A161T		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	161							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|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)		GGGATGGTGGCGGGCGTGATG	0.692													T	650259	C	T	650259	3	4	364	1	0	0	0	0	1	0	0	0	13526	768	27	1	474	1	RNF126	19	650259	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1352	650259	58478724	13087	36589											
PALM	5064	broad.mit.edu	37	chr19	746643	746643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggcggagctggtggtcatCgaagacgcggctgagcccaa	9	5	16	11	5	1	2	1	1	0	1	2	4	1	3	1	5	2	2	1	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:746643C>T	ENST00000264560.7	+	8	1055	c.861C>T	c.(859-861)atC>atT	p.I287I	PALM_ENST00000338448.5_Silent_p.I331I|PALM_ENST00000593172.1_3'UTR	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	331					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		TGGTGGTCATCGAAGACGCGG	0.627													T	746643	C	T	746643	2	4	364	1	0	0	0	0	0	0	0	1	11484	874	31	1		1	PALM	19	746643	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96384	746643	58382340	13088	36590											
PTBP1	5725	broad.mit.edu	37	chr19	808591	808591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcacgggaagcccatccGcatcacgctctcgaagcacc	9	5	10	17	4	2	0	1	0	1	0	4	2	3	1	3	1	3	5	3	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:808591G>A	ENST00000356948.6	+	13	1715	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PTBP1_ENST00000350092.4_Missense_Mutation_p.R71H|PTBP1_ENST00000349038.4_Missense_Mutation_p.R405H|PTBP1_ENST00000394601.4_Missense_Mutation_p.R424H	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	405					negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		AAGCCCATCCGCATCACGCTC	0.692													A	808591	G	A	808591	3	1	364	1	0	0	0	0	1	0	0	0	12810	1087	38	1	1342	1	PTBP1	19	808591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61948	808591	58320392	13089	36591											
AZU1	566	broad.mit.edu	37	chr19	831742	831742	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggcacccccctcgtctgCgagggcctggcccacggcgt	3	5	16	17	4	1	0	0	0	1	0	2	1	1	0	5	5	1	1	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:831742C>T	ENST00000233997.2	+	5	642	c.621C>T	c.(619-621)tgC>tgT	p.C207C		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	207	Peptidase S1.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CCCTCGTCTGCGAGGGCCTGG	0.706													T	831742	C	T	831742	2	4	364	1	0	0	0	0	0	0	0	1	1248	776	27	1		1	AZU1	19	831742	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23151	831742	58297241	13090	36592											
CFD	1675	broad.mit.edu	37	chr19	860969	860969	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccacccggacagccaGcccgacaccatcgaccacga	10	2	9	20	4	0	0	0	0	0	0	1	4	0	1	7	1	3	0	7	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:860969G>T	ENST00000327726.6	+	3	558	c.321G>T	c.(319-321)caG>caT	p.Q107H	CFD_ENST00000592860.1_Missense_Mutation_p.Q114H	NM_001928.2	NP_001919.2	P00746	CFAD_HUMAN	complement factor D (adipsin)	107	Peptidase S1.				complement activation, alternative pathway|platelet activation|platelet degranulation|proteolysis	platelet alpha granule lumen	serine-type endopeptidase activity						Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		CGGACAGCCAGCCCGACACCA	0.711													T	860969	G	T	860969	3	4	364	1	0	0	0	0	1	0	0	0	3311	962	34	4	331	4	CFD	19	860969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29227	860969	58268014	13091	36593											
MED16	10025	broad.mit.edu	37	chr19	885908	885908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcacttctcgctcaccacGctcacgcacaccttgtagaa	9	8	7	17	4	3	1	2	0	1	1	4	1	3	1	2	1	0	5	2	1	2	3	rs116674441	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:885908G>A	ENST00000312090.6	-	5	891	c.741C>T	c.(739-741)agC>agT	p.S247S	MED16_ENST00000606828.1_Intron|MED16_ENST00000395808.3_Silent_p.S247S|MED16_ENST00000589119.1_Silent_p.S247S|MED16_ENST00000325464.1_Silent_p.S247S|MED16_ENST00000269814.4_Silent_p.S247S			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	247					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CGCTCACCACGCTCACGCACA	0.652													A	885908	G	A	885908	2	1	364	1	0	0	0	0	0	0	0	1	9509	1078	38	1		1	MED16	19	885908	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24939	885908	58243075	13092	36594											
CNN2	1265	broad.mit.edu	37	chr19	1037633	1037633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctctccaggtgggcatgAcggctcccgggacccggcgg	4	7	15	15	4	1	1	0	1	1	0	4	2	3	2	4	6	0	2	4	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1037633A>G	ENST00000263097.4	+	7	1027	c.664A>G	c.(664-666)Acg>Gcg	p.T222A	CNN2_ENST00000562958.2_Missense_Mutation_p.T243A|CNN2_ENST00000606983.1_3'UTR|CNN2_ENST00000348419.3_Missense_Mutation_p.T183A|CNN2_ENST00000565096.2_Missense_Mutation_p.T211A	NM_004368.2	NP_004359.1	Q99439	CNN2_HUMAN	calponin 2	222					actomyosin structure organization|cellular response to mechanical stimulus|regulation of actin filament-based process	cell-cell junction|stress fiber	actin binding|calmodulin binding			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GGTGGGCATGACGGCTCCCGG	0.617													G	1037633	A	G	1037633	3	3	364	1	0	0	0	0	1	0	0	0	3641	275	10	3	690	3	CNN2	19	1037633	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	151725	1037633	58091350	13093	36595											
ABCA7	10347	broad.mit.edu	37	chr19	1043735	1043735	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccacaggtgaaccggacCttcgaggagctcaccctgct	8	8	11	14	2	1	1	1	1	0	0	3	4	2	3	4	3	3	2	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1043735C>A	ENST00000263094.6	+	10	1173	c.942C>A	c.(940-942)acC>acA	p.T314T	ABCA7_ENST00000435683.2_Silent_p.T176T|ABCA7_ENST00000433129.1_Silent_p.T314T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	314					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGAACCGGACCTTCGAGGAGC	0.632													A	1043735	C	A	1043735	2	1	364	1	0	0	0	0	0	0	0	1	37	668	24	4		4	ABCA7	19	1043735	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6102	1043735	58085248	13094	36596											
ABCA7	10347	broad.mit.edu	37	chr19	1046330	1046330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggagcgtgcagccgtccGcgtgctcagcggcgccaacc	5	5	16	15	6	1	0	1	0	0	0	2	1	2	1	4	3	6	2	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1046330G>A	ENST00000263094.6	+	13	1778	c.1547G>A	c.(1546-1548)cGc>cAc	p.R516H	ABCA7_ENST00000435683.2_Missense_Mutation_p.R378H|ABCA7_ENST00000533574.1_3'UTR|ABCA7_ENST00000433129.1_Missense_Mutation_p.R516H	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	516					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	p.R516H(1)		NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCAGCCGTCCGCGTGCTCAGC	0.692													A	1046330	G	A	1046330	3	1	364	1	0	0	0	0	1	0	0	0	37	1087	38	1	1593	1	ABCA7	19	1046330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2595	1046330	58082653	13095	36597											
HMHA1	23526	broad.mit.edu	37	chr19	1080929	1080929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgagctgccggtggccGtgcccagtggaccgttccgc	3	6	14	18	5	0	0	0	0	0	0	1	2	1	1	7	3	3	2	7	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1080929G>A	ENST00000313093.2	+	17	2287	c.2056G>A	c.(2056-2058)Gtg>Atg	p.V686M	HMHA1_ENST00000590577.1_Missense_Mutation_p.V321M|HMHA1_ENST00000536472.1_Missense_Mutation_p.V554M|HMHA1_ENST00000586866.1_Missense_Mutation_p.V690M|HMHA1_ENST00000539243.2_Missense_Mutation_p.V702M|HMHA1_ENST00000590214.1_Missense_Mutation_p.V713M|HMHA1_ENST00000543365.1_Missense_Mutation_p.V569M	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	686					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCCGGTGGCCGTGCCCAGTGG	0.706													A	1080929	G	A	1080929	3	1	364	1	0	0	0	0	1	0	0	0	7295	1145	40	1	2122	1	HMHA1	19	1080929	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34599	1080929	58048054	13096	36598											
GPX4	2879	broad.mit.edu	37	chr19	1106423	1106423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcgacaagaacggctgcGtggtgaagcgctacggaccc	10	6	13	12	5	1	2	1	1	0	1	2	4	1	3	1	3	4	2	1	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1106423G>A	ENST00000354171.8	+	6	633	c.526G>A	c.(526-528)Gtg>Atg	p.V176M	GPX4_ENST00000589115.1_Silent_p.A167A	NM_001039847.1|NM_002085.3	NP_001034936.1|NP_002076.2	P36969	GPX4_HUMAN	glutathione peroxidase 4	176					multicellular organismal development|phospholipid metabolic process		glutathione peroxidase activity|phospholipid-hydroperoxide glutathione peroxidase activity			endometrium(1)|kidney(2)	3		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)	Glutathione(DB00143)	GAACGGCTGCGTGGTGAAGCG	0.647													A	1106423	G	A	1106423	3	1	364	1	0	0	0	0	1	0	0	0	6797	1145	40	1	769	1	GPX4	19	1106423	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25494	1106423	58022560	13097	36599											
STK11	6794	broad.mit.edu	37	chr19	1220378	1220378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgctgcccgcaggtacttCtgtcagctgattgacggcct	5	12	12	12	2	2	2	1	2	1	0	2	2	2	2	2	2	4	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1220378C>T	ENST00000326873.7	+	4	1644	c.471C>T	c.(469-471)ttC>ttT	p.F157F		NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	157	Protein kinase.		F -> S (in sporadic cancer; somatic mutation; impairs heterotrimeric complex assembly with STRADA and CAB39).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.Y156fs*87(4)|p.?(4)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		GCAGGTACTTCTGTCAGCTGA	0.642		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			T	1220378	C	T	1220378	2	4	364	1	0	0	0	0	0	0	0	1	15383	912	32	2		2	STK11	19	1220378	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113955	1220378	57908605	13098	36600											
C19orf26	255057	broad.mit.edu	37	chr19	1231117	1231117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgccgagagcagggggCgggctggccagaaaggggcg	8	3	20	10	3	0	2	0	0	0	2	0	3	0	2	3	6	3	2	3	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231117C>T	ENST00000590083.1	-	9	1429	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P	C19orf26_ENST00000382477.2_Silent_p.P399P|C19orf26_ENST00000215376.6_Silent_p.P373P			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	399						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		GAGCAGGGGGCGGGCTGGCCA	0.701										HNSCC(14;0.022)			T	1231117	C	T	1231117	2	4	364	1	0	0	0	0	0	0	0	1	1935	755	27	1		1	C19orf26	19	1231117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10739	1231117	57897866	13099	36601											
C19orf26	255057	broad.mit.edu	37	chr19	1231256	1231256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgctgccgctggaagTggtgccgcttgggggaacct	4	8	16	13	3	0	0	0	0	0	0	0	2	0	2	4	4	4	3	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1231256T>C	ENST00000590083.1	-	9	1290	c.998A>G	c.(997-999)cAc>cGc	p.H333R	C19orf26_ENST00000382477.2_Missense_Mutation_p.H353R|C19orf26_ENST00000215376.6_Missense_Mutation_p.H327R			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	353						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CCGCTGGAAGTGGTGCCGCTT	0.682										HNSCC(14;0.022)			C	1231256	T	C	1231256	3	2	364	1	0	0	0	0	1	0	0	0	1935	1696	59	3	367	3	C19orf26	19	1231256	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	139	1231256	57897727	13100	36602											
MUM1	84939	broad.mit.edu	37	chr19	1364551	1364552	+	Frame_Shift_Ins	INS	-	-	A																															tgctagtctggcataaacatINSaaaaaataccccttctggcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1364551_1364552insA	ENST00000311401.5	+	7	1439_1440	c.1053_1054insA	c.(1054-1056)aaafs	p.K352fs	MUM1_ENST00000415183.3_Frame_Shift_Ins_p.K421fs|MUM1_ENST00000344663.3_Frame_Shift_Ins_p.K421fs|MUM1_ENST00000591806.1_Frame_Shift_Ins_p.K421fs			Q2TAK8	MUM1_HUMAN	melanoma associated antigen (mutated) 1	420					chromatin organization|DNA repair	nucleus	nucleosome binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		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;0.000172)|Hepatocellular(1079;0.137)		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)		GGCATAAACATAAAAAATACCC	0.337											OREG0025116	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	1364552	-	A	1364551	7	5	364	1	0	1	1	0	0	0	0	0	10061	1403	49	0	1282	0	MUM1	19	1364551	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	133295	1364551	57764432	13101	36603											
NDUFS7	374291	broad.mit.edu	37	chr19	1390944	1390944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatggcagcaccccgctaCgacatggaccgctttggcgt	8	7	11	15	4	0	0	0	0	0	0	0	2	0	1	3	3	2	4	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1390944C>T	ENST00000313408.7	+	5	326	c.303C>T	c.(301-303)taC>taT	p.Y101Y	NDUFS7_ENST00000539480.1_Silent_p.Y101Y|NDUFS7_ENST00000414651.2_Silent_p.Y131Y|NDUFS7_ENST00000233627.9_Silent_p.Y101Y|NDUFS7_ENST00000546283.1_Silent_p.Y101Y|NDUFS7_ENST00000540530.1_3'UTR			O75251	NDUS7_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 7, 20kDa (NADH-coenzyme Q reductase)	101					mitochondrial electron transport, NADH to ubiquinone|mitochondrial respiratory chain complex I assembly|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding			ovary(1)	1		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)|Breast(49;0.00186)|Lung NSC(49;0.00292)|all_lung(49;0.00419)		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)	NADH(DB00157)	CACCCCGCTACGACATGGACC	0.667													T	1390944	C	T	1390944	2	4	364	1	0	0	0	0	0	0	0	1	10373	547	19	1		1	NDUFS7	19	1390944	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26393	1390944	57738039	13102	36604											
DAZAP1	26528	broad.mit.edu	37	chr19	1422373	1422373	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtagtcatgatctatgaCgccgagaagcagaggccccg	11	6	14	10	3	2	4	1	2	1	2	2	6	2	4	3	2	1	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1422373C>T	ENST00000336761.6	+	6	646	c.441C>T	c.(439-441)gaC>gaT	p.D147D	DAZAP1_ENST00000586579.1_3'UTR|DAZAP1_ENST00000233078.4_Silent_p.D147D	NM_170711.1	NP_733829.1	Q96EP5	DAZP1_HUMAN	DAZ associated protein 1	147	RRM 2.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		TGATCTATGACGCCGAGAAGC	0.612													T	1422373	C	T	1422373	2	4	364	1	0	0	0	0	0	0	0	1	4278	535	19	1		1	DAZAP1	19	1422373	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31429	1422373	57706610	13103	36605											
APC2	10297	broad.mit.edu	37	chr19	1462051	1462051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatctgccaggtggatggCgccctgggcttcctggtgag	4	9	16	12	1	1	1	0	1	1	0	2	2	2	2	4	5	1	1	4	5	0	1	rs148957868		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1462051C>T	ENST00000535453.1	+	13	3441	c.1728C>T	c.(1726-1728)ggC>ggT	p.G576G	C19orf25_ENST00000588427.1_Intron|APC2_ENST00000233607.2_Silent_p.G576G|CTB-25B13.12_ENST00000588225.1_RNA|APC2_ENST00000238483.4_Silent_p.G302G			O95996	APC2_HUMAN	adenomatosis polyposis coli 2	576					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|Wnt receptor signaling pathway	actin filament|catenin complex|cytoplasmic microtubule|Golgi membrane|lamellipodium membrane|perinuclear region of cytoplasm	beta-catenin binding|microtubule binding			breast(3)|cervix(1)|kidney(4)|large_intestine(2)|lung(5)|pancreas(1)|skin(2)	18		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		AGGTGGATGGCGCCCTGGGCT	0.632													T	1462051	C	T	1462051	2	4	364	1	0	0	0	0	0	0	0	1	766	755	27	1		1	APC2	19	1462051	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39678	1462051	57666932	13104	36606											
PCSK4	54760	broad.mit.edu	37	chr19	1486973	1486973	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacggaaagcgtgtggatgCtgttggtgtagccgtcgcag	7	9	16	9	4	0	0	0	0	0	0	1	2	0	2	2	3	3	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1486973C>A	ENST00000300954.5	-	8	1008	c.947G>T	c.(946-948)aGc>aTc	p.S316I		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	316	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		CGTGTGGATGCTGTTGGTGTA	0.682													A	1486973	C	A	1486973	3	1	364	1	0	0	0	0	1	0	0	0	11678	797	28	4	1352	4	PCSK4	19	1486973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24922	1486973	57642010	13105	36607											
PCSK4	54760	broad.mit.edu	37	chr19	1487017	1487017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgtcgtagtgcaggccGccgttgcccgaggcccagat	6	8	14	13	4	0	1	0	0	0	1	1	2	0	1	4	2	2	4	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1487017G>A	ENST00000300954.5	-	8	964	c.903C>T	c.(901-903)ggC>ggT	p.G301G		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	301	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		AGTGCAGGCCGCCGTTGCCCG	0.706													A	1487017	G	A	1487017	2	1	364	1	0	0	0	0	0	0	0	1	11678	1074	38	1		1	PCSK4	19	1487017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44	1487017	57641966	13106	36608											
ADAMTSL5	339366	broad.mit.edu	37	chr19	1507280	1507280	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgggcccggctgcttgCaatgtctcctggggccctgt	3	10	16	12	1	1	0	0	0	1	0	2	1	1	0	3	5	2	3	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1507280C>T	ENST00000330475.4	-	9	1256	c.813G>A	c.(811-813)ttG>ttA	p.L271L	ADAMTSL5_ENST00000413997.2_Silent_p.L281L|ADAMTSL5_ENST00000590562.1_5'UTR|ADAMTSL5_ENST00000395467.2_Silent_p.L40L	NM_213604.2	NP_998769.2	Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	271						proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		CGGCTGCTTGCAATGTCTCCT	0.667													T	1507280	C	T	1507280	2	4	364	1	0	0	0	0	0	0	0	1	278	709	25	2		2	ADAMTSL5	19	1507280	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20263	1507280	57621703	13107	36609											
MEX3D	399664	broad.mit.edu	37	chr19	1555379	1555379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgggctgcggggtctccGtctccacgcctgaggcggca	3	6	16	16	6	2	1	0	1	2	0	4	1	2	1	4	5	1	2	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1555379G>A	ENST00000388824.6	-	3	1951	c.1952C>T	c.(1951-1953)aCg>aTg	p.T651M	MEX3D_ENST00000402693.4_3'UTR	NM_001174118.1	NP_001167589.1	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	0					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		CGGGGTCTCCGTCTCCACGCC	0.637													A	1555379	G	A	1555379	3	1	364	1	0	0	0	0	1	0	0	0	9587	1145	40	1	52	1	MEX3D	19	1555379	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48099	1555379	57573604	13108	36610											
MEX3D	399664	broad.mit.edu	37	chr19	1556539	1556539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcgcgcgcgcggtccaCgttctcgggcatcccagtga	4	8	12	17	7	1	1	0	1	1	0	6	1	4	1	3	2	0	2	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1556539C>T	ENST00000402693.4	-	2	978	c.979G>A	c.(979-981)Gtg>Atg	p.V327M	MEX3D_ENST00000388824.6_Missense_Mutation_p.V327M	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	327	KH 2.				mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GCGCGGTCCACGTTCTCGGGC	0.697													T	1556539	C	T	1556539	3	4	364	1	0	0	0	0	1	0	0	0	9587	536	19	1	1043	1	MEX3D	19	1556539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1160	1556539	57572444	13109	36611											
MBD3	53615	broad.mit.edu	37	chr19	1578393	1578393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcctcctcctcctcGtcttcctcgtcgtcgtcctc	0	15	4	22	4	1	0	0	0	1	0	14	0	9	0	8	0	0	0	8	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1578393G>A	ENST00000590550.2	-	5	1027	c.654C>T	c.(652-654)gaC>gaT	p.D218D	UQCR11_ENST00000585937.1_3'UTR|MBD3_ENST00000434436.3_Silent_p.D274D|MBD3_ENST00000156825.1_Silent_p.D274D|MBD3_ENST00000592012.1_Silent_p.D242D			O95983	MBD3_HUMAN	methyl-CpG binding domain protein 3	274					transcription, DNA-dependent	NuRD complex	DNA binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)|Lung(535;0.179)|STAD - Stomach adenocarcinoma(1328;0.18)		cctcctcctcgtcttcctcgt	0.716													A	1578393	G	A	1578393	2	1	364	1	0	0	0	0	0	0	0	1	9419	1136	40	1		1	MBD3	19	1578393	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21854	1578393	57550590	13110	36612											
REXO1	57455	broad.mit.edu	37	chr19	1821569	1821569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatgatggtggtggtagtCttggacgccatccccgacaa	8	9	15	9	2	1	1	0	1	1	0	2	4	2	3	3	5	0	1	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1821569C>T	ENST00000170168.4	-	5	2437	c.2343G>A	c.(2341-2343)aaG>aaA	p.K781K		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	781						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		TGGTGGTAGTCTTGGACGCCA	0.632													T	1821569	C	T	1821569	2	4	364	1	0	0	0	0	0	0	0	1	13329	912	32	2		2	REXO1	19	1821569	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243176	1821569	57307414	13111	36613											
REXO1	57455	broad.mit.edu	37	chr19	1827631	1827631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccgtctttgcagctggggGcaggtggggccccggttttt	2	11	16	12	2	1	0	0	0	1	0	1	0	1	0	4	6	2	4	4	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1827631G>A	ENST00000170168.4	-	2	1251	c.1157C>T	c.(1156-1158)gCc>gTc	p.A386V		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	386						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		GCAGCTGGGGGCAGGTGGGGC	0.672													A	1827631	G	A	1827631	3	1	364	1	0	0	0	0	1	0	0	0	13329	1203	42	2	2568	2	REXO1	19	1827631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6062	1827631	57301352	13112	36614											
SCAMP4	113178	broad.mit.edu	37	chr19	1918987	1918987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctccggctggggcgcGtggtaagcctctctctgatg	3	11	15	12	3	3	1	0	1	3	0	5	1	3	1	2	5	1	3	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1918987G>A	ENST00000316097.8	+	5	660	c.393G>A	c.(391-393)gcG>gcA	p.A131A	SCAMP4_ENST00000409472.1_Intron|SCAMP4_ENST00000414057.2_3'UTR	NM_079834.2	NP_524558.1	Q969E2	SCAM4_HUMAN	secretory carrier membrane protein 4	131					protein transport	integral to membrane							Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		GCTGGGGCGCGTGGTAAGCCT	0.612													A	1918987	G	A	1918987	2	1	364	1	0	0	0	0	0	0	0	1	13965	1132	40	1		1	SCAMP4	19	1918987	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91356	1918987	57209996	13113	36615											
CSNK1G2	1455	broad.mit.edu	37	chr19	1978308	1978308	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctctgtccccgcaggaaaGaatctctatacaaatgaata	14	10	7	10	1	2	2	0	1	2	1	5	3	3	3	2	1	1	1	2	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978308G>A	ENST00000255641.8	+	3	687	c.192G>A	c.(190-192)aaG>aaA	p.K64K		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	64	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		CCGCAGGAAAGAATCTCTATA	0.657													A	1978308	G	A	1978308	2	1	364	1	0	0	0	0	0	0	0	1	3988	933	33	2		2	CSNK1G2	19	1978308	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59321	1978308	57150675	13114	36616											
CSNK1G2	1455	broad.mit.edu	37	chr19	1978330	1978330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctatacaaatgaatacGtggctatcaaattggtgagt	14	13	8	6	1	2	2	1	2	1	0	3	2	2	2	0	2	2	1	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1978330G>A	ENST00000255641.8	+	3	709	c.214G>A	c.(214-216)Gtg>Atg	p.V72M		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	72	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		AAATGAATACGTGGCTATCAA	0.642													A	1978330	G	A	1978330	3	1	364	1	0	0	0	0	1	0	0	0	3988	1145	40	1	220	1	CSNK1G2	19	1978330	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	1978330	57150653	13115	36617											
CSNK1G2	1455	broad.mit.edu	37	chr19	1980185	1980185	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagaaagagaaaatcgCtgcagcgacacaagtgaccc	17	3	12	9	2	0	4	0	1	0	3	1	7	0	4	1	1	2	2	1	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1980185C>T	ENST00000255641.8	+	12	1726	c.1231C>T	c.(1231-1233)Ctg>Ttg	p.L411L		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	411					sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		GAGAAAATCGCTGCAGCGACA	0.657													T	1980185	C	T	1980185	2	4	364	1	0	0	0	0	0	0	0	1	3988	796	28	2		2	CSNK1G2	19	1980185	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1855	1980185	57148798	13116	36618											
BTBD2	55643	broad.mit.edu	37	chr19	1987624	1987624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aactccactcgtggcttgggGttgacggtgaagtgcaggaa	9	9	15	8	2	0	2	0	2	0	0	2	3	1	3	1	5	2	3	1	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:1987624G>T	ENST00000255608.4	-	6	1072	c.1056C>A	c.(1054-1056)aaC>aaA	p.N352K		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	352						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		GTGGCTTGGGGTTGACGGTGA	0.667													T	1987624	G	T	1987624	3	4	364	1	0	0	0	0	1	0	0	0	1553	1252	44	4	537	4	BTBD2	19	1987624	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7439	1987624	57141359	13117	36619											
AP3D1	8943	broad.mit.edu	37	chr19	2116215	2116215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggcctcaccttctgtggCgatggcgagctcttgatgta	6	11	13	11	3	3	1	1	1	2	0	3	3	3	1	2	3	1	2	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2116215C>T	ENST00000355272.6	-	18	2270	c.2064G>A	c.(2062-2064)tcG>tcA	p.S688S	AP3D1_ENST00000345016.5_Silent_p.S688S|AP3D1_ENST00000356926.4_Silent_p.S597S|AP3D1_ENST00000350812.6_Silent_p.S519S	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	688					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		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)		CCTTCTGTGGCGATGGCGAGC	0.652													T	2116215	C	T	2116215	2	4	364	1	0	0	0	0	0	0	0	1	748	755	27	1		1	AP3D1	19	2116215	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128591	2116215	57012768	13118	36620											
AP3D1	8943	broad.mit.edu	37	chr19	2130455	2130455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccggggaaaggcagggcGcagcgactcggggtacttca	9	4	17	11	4	1	0	1	0	0	0	2	2	1	1	1	6	3	3	1	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2130455G>A	ENST00000355272.6	-	6	750	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	AP3D1_ENST00000345016.5_Missense_Mutation_p.R182C|AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	182					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		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)		AAGGCAGGGCGCAGCGACTCG	0.607													A	2130455	G	A	2130455	3	1	364	1	0	0	0	0	1	0	0	0	748	1087	38	1	3175	1	AP3D1	19	2130455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14240	2130455	56998528	13119	36621											
DOT1L	84444	broad.mit.edu	37	chr19	2216348	2216348	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcaagtcctgtgtgccGcctgacgacgccctgtccct	5	9	10	17	3	1	1	1	1	0	0	3	2	3	1	5	0	2	1	5	0	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216348G>A	ENST00000398665.3	+	20	2028	c.1992G>A	c.(1990-1992)ccG>ccA	p.P664P	DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	664						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		CCTGTGTGCCGCCTGACGACG	0.677													A	2216348	G	A	2216348	2	1	364	1	0	0	0	0	0	0	0	1	4748	1074	38	1		1	DOT1L	19	2216348	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85893	2216348	56912635	13120	36622											
DOT1L	84444	broad.mit.edu	37	chr19	2216561	2216561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgtcgaagcagaacacGccccagtacctggcctcacc	9	6	8	18	3	1	1	1	0	0	1	3	2	1	1	6	1	3	2	6	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216561G>A	ENST00000398665.3	+	20	2241	c.2205G>A	c.(2203-2205)acG>acA	p.T735T	DOT1L_ENST00000608122.1_3'UTR	NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	735						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		AGCAGAACACGCCCCAGTACC	0.667													A	2216561	G	A	2216561	2	1	364	1	0	0	0	0	0	0	0	1	4748	1074	38	1		1	DOT1L	19	2216561	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213	2216561	56912422	13121	36623											
DOT1L	84444	broad.mit.edu	37	chr19	2216658	2216658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagctgtctggcctagccGcacccgactacactaggctg	9	7	11	14	2	1	1	0	0	1	1	1	2	1	1	3	2	3	3	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2216658G>A	ENST00000398665.3	+	20	2338	c.2302G>A	c.(2302-2304)Gca>Aca	p.A768T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	768						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		TGGCCTAGCCGCACCCGACTA	0.697													A	2216658	G	A	2216658	3	1	364	1	0	0	0	0	1	0	0	0	4748	1087	38	1	2380	1	DOT1L	19	2216658	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97	2216658	56912325	13122	36624											
DOT1L	84444	broad.mit.edu	37	chr19	2226610	2226610	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaaggagggctcggacGccaaccctttcctgagcaag	9	5	14	13	3	0	1	0	1	0	0	2	3	1	3	3	4	2	3	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2226610G>A	ENST00000398665.3	+	27	4126	c.4090G>A	c.(4090-4092)Gcc>Acc	p.A1364T		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1364						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GGGCTCGGACGCCAACCCTTT	0.706													A	2226610	G	A	2226610	3	1	364	1	0	0	0	0	1	0	0	0	4748	1087	38	1	4196	1	DOT1L	19	2226610	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9952	2226610	56902373	13123	36625											
LINGO3	645191	broad.mit.edu	37	chr19	2290284	2290284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcggccggctcggggcGcacggtcagcgtggcgaagt	4	6	20	11	7	1	0	1	0	0	0	2	1	1	0	1	7	1	3	1	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2290284G>A	ENST00000585527.1	-	1	1739	c.1492C>T	c.(1492-1494)Cgc>Tgc	p.R498C	LINGO3_ENST00000404279.1_Missense_Mutation_p.R498C			P0C6S8	LIGO3_HUMAN	leucine rich repeat and Ig domain containing 3	498						integral to membrane				lung(1)|urinary_tract(1)	2						GGCTCGGGGCGCACGGTCAGC	0.736													A	2290284	G	A	2290284	3	1	364	1	0	0	0	0	1	0	0	0	8877	1087	38	1	290	1	LINGO3	19	2290284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63674	2290284	56838699	13124	36626											
TMPRSS9	360200	broad.mit.edu	37	chr19	2399191	2399191	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtcggctgagctcacaGgtgagtgggcagccgagacc	7	8	16	10	2	1	3	1	2	0	1	2	4	1	3	2	3	2	3	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2399191G>T	ENST00000332578.3	+	3	412	c.412G>T	c.(412-414)Ggg>Tgg	p.G138W		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	138					proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		TGAGCTCACAGGTGAGTGGGC	0.587													T	2399191	G	T	2399191	5	4	364	1	0	0	0	0	0	0	1	0	16353	1014	35	4	422	4	TMPRSS9	19	2399191	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108907	2399191	56729792	13125	36627											
TMPRSS9	360200	broad.mit.edu	37	chr19	2405420	2405420	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccggcaggatcgtgggcgGcatggaagcatccccggggg	6	4	20	11	4	0	0	0	0	0	0	2	2	1	2	3	8	1	3	3	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405420G>A	ENST00000332578.3	+	6	617	c.617G>A	c.(616-618)gGc>gAc	p.G206D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	206	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		ATCGTGGGCGGCATGGAAGCA	0.642													A	2405420	G	A	2405420	3	1	364	1	0	0	0	0	1	0	0	0	16353	1203	42	2	639	2	TMPRSS9	19	2405420	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6229	2405420	56723563	13126	36628											
TMPRSS9	360200	broad.mit.edu	37	chr19	2405514	2405514	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccatcatcaacgccaggtgGctggtgtctgctgctcactg	6	10	12	13	1	4	0	3	0	1	0	4	0	4	0	2	3	3	3	2	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2405514G>A	ENST00000332578.3	+	6	711	c.711G>A	c.(709-711)tgG>tgA	p.W237*		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	237	Peptidase S1 1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		ACGCCAGGTGGCTGGTGTCTG	0.597													A	2405514	G	A	2405514	4	1	364	1	0	0	0	0	0	1	0	0	16353	1212	42	2	733	2	TMPRSS9	19	2405514	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94	2405514	56723469	13127	36629											
TMPRSS9	360200	broad.mit.edu	37	chr19	2416729	2416729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacatccagcctgtctgcCtgcccctggccatccagaag	9	8	8	16	0	1	1	0	0	1	1	3	1	3	1	7	1	4	0	7	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2416729C>A	ENST00000332578.3	+	11	1837	c.1837C>A	c.(1837-1839)Ctg>Atg	p.L613M		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	613	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GCCTGTCTGCCTGCCCCTGGC	0.617													A	2416729	C	A	2416729	3	1	364	1	0	0	0	0	1	0	0	0	16353	680	24	4	1879	4	TMPRSS9	19	2416729	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11215	2416729	56712254	13128	36630											
TMPRSS9	360200	broad.mit.edu	37	chr19	2421892	2421892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcctgcgaggaggcccctgGcgtgttttatctggcaggga	5	9	17	10	2	1	0	0	0	1	0	1	3	1	2	3	6	1	2	3	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2421892G>A	ENST00000332578.3	+	13	2093	c.2093G>A	c.(2092-2094)gGc>gAc	p.G698D		NM_182973.1	NP_892018.1	Q7Z410	TMPS9_HUMAN	transmembrane protease, serine 9	698	Peptidase S1 2.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				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)		GAGGCCCCTGGCGTGTTTTAT	0.617													A	2421892	G	A	2421892	3	1	364	1	0	0	0	0	1	0	0	0	16353	1203	42	2	2143	2	TMPRSS9	19	2421892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5163	2421892	56707091	13129	36631											
LMNB2	84823	broad.mit.edu	37	chr19	2434897	2434897	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttctggtcagagctcagCttggcgctgtccagctgtgg	4	12	14	11	2	3	1	2	0	1	1	5	1	4	1	1	3	3	5	1	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2434897C>A	ENST00000325327.3	-	6	932	c.870G>T	c.(868-870)aaG>aaT	p.K290N	LMNB2_ENST00000582871.1_Missense_Mutation_p.K270N			Q03252	LMNB2_HUMAN	lamin B2	270	Coil 2.|Rod.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		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)		CAGAGCTCAGCTTGGCGCTGT	0.746													A	2434897	C	A	2434897	3	1	364	1	0	0	0	0	1	0	0	0	8911	796	28	4	1020	4	LMNB2	19	2434897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13005	2434897	56694086	13130	36632											
DIRAS1	148252	broad.mit.edu	37	chr19	2717757	2717757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagctcttgcccacgccGcccgccccgaacaccaccac	8	3	8	22	5	1	0	0	0	1	0	1	2	1	0	7	0	4	1	7	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2717757G>A	ENST00000323469.4	-	2	231	c.48C>T	c.(46-48)ggC>ggT	p.G16G	DIRAS1_ENST00000585334.1_Silent_p.G16G	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	16					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				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)		TGCCCACGCCGCCCGCCCCGA	0.682													A	2717757	G	A	2717757	2	1	364	1	0	0	0	0	0	0	0	1	4569	1074	38	1		1	DIRAS1	19	2717757	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282860	2717757	56411226	13131	36633											
SLC39A3	29985	broad.mit.edu	37	chr19	2732805	2732805	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccagcaccaggaagaGgaccttgagcagacggtcac	12	4	13	12	1	1	3	1	1	0	2	1	5	1	5	3	3	3	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2732805G>T	ENST00000269740.4	-	3	1218	c.889C>A	c.(889-891)Ctc>Atc	p.L297I	SLC39A3_ENST00000545664.1_Missense_Mutation_p.L297I|AC006538.4_ENST00000586572.1_Intron	NM_144564.4	NP_653165.2	Q9BRY0	S39A3_HUMAN	solute carrier family 39 (zinc transporter), member 3	297						integral to membrane|plasma membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10		Hepatocellular(1079;0.137)		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)		ACCAGGAAGAGGACCTTGAGC	0.667													T	2732805	G	T	2732805	3	4	364	1	0	0	0	0	1	0	0	0	14713	1000	35	4	59	4	SLC39A3	19	2732805	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15048	2732805	56396178	13132	36634											
SGTA	6449	broad.mit.edu	37	chr19	2759266	2759266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttacagctgctgaatCtggggattgttcattaggtt	8	15	11	7	0	3	1	2	1	1	0	3	2	3	2	0	3	3	4	0	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2759266C>A	ENST00000221566.2	-	9	887	c.726G>T	c.(724-726)caG>caT	p.Q242H		NM_003021.3	NP_003012.1	O43765	SGTA_HUMAN	small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha	242					interspecies interaction between organisms	cytoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7		Hepatocellular(1079;0.137)		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)		GCTGCTGAATCTGGGGATTGT	0.403													A	2759266	C	A	2759266	3	1	364	1	0	0	0	0	1	0	0	0	14318	912	32	4	227	4	SGTA	19	2759266	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26461	2759266	56369717	13133	36635											
THOP1	7064	broad.mit.edu	37	chr19	2794832	2794832	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccggacagccagcacagaGgccgacaagaagctctctga	13	4	11	13	2	1	3	0	1	1	2	3	5	2	4	3	2	3	2	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794832G>T	ENST00000307741.6	+	3	503	c.300G>T	c.(298-300)gaG>gaT	p.E100D		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	100					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CCAGCACAGAGGCCGACAAGA	0.587													T	2794832	G	T	2794832	3	4	364	1	0	0	0	0	1	0	0	0	15971	991	35	4	310	4	THOP1	19	2794832	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35566	2794832	56334151	13134	36636											
THOP1	7064	broad.mit.edu	37	chr19	2794857	2794857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaagaagctctctgagttcGacgtggagatgagcatgagg	12	8	14	7	2	1	5	0	3	1	2	3	7	1	5	0	2	2	3	0	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2794857G>A	ENST00000307741.6	+	3	528	c.325G>A	c.(325-327)Gac>Aac	p.D109N		NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	109					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding	p.D109N(1)		NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CTCTGAGTTCGACGTGGAGAT	0.567													A	2794857	G	A	2794857	3	1	364	1	0	0	0	0	1	0	0	0	15971	1058	37	1	335	1	THOP1	19	2794857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25	2794857	56334126	13135	36637											
ZNF555	148254	broad.mit.edu	37	chr19	2853330	2853330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtgcacactggagagaaaCcctatgagtgcaagcaatgt	13	7	13	8	0	0	2	0	1	0	1	0	4	0	3	1	2	4	3	1	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853330C>T	ENST00000334241.4	+	4	1405	c.1267C>T	c.(1267-1269)Ccc>Tcc	p.P423S	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.P422S	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		TGGAGAGAAACCCTATGAGTG	0.453													T	2853330	C	T	2853330	3	4	364	1	0	0	0	0	1	0	0	0	18087	507	18	2	1281	2	ZNF555	19	2853330	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58473	2853330	56275653	13136	36638											
ZNF555	148254	broad.mit.edu	37	chr19	2853649	2853649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcaacaacatgtgagaaCgcacactgtagagaagccct	14	8	9	10	1	0	2	0	1	0	2	0	4	0	2	1	0	5	3	1	0	5	2	rs146806424	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2853649C>T	ENST00000334241.4	+	4	1724	c.1586C>T	c.(1585-1587)aCg>aTg	p.T529M	AC006130.3_ENST00000589365.1_RNA|ZNF555_ENST00000591539.1_Missense_Mutation_p.T528M	NM_001172775.1|NM_152791.4	NP_001166246.1|NP_690004.4	Q8NEP9	ZN555_HUMAN	zinc finger protein 555	529					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)|urinary_tract(4)	23				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)		CATGTGAGAACGCACACTGTA	0.418													T	2853649	C	T	2853649	3	4	364	1	0	0	0	0	1	0	0	0	18087	536	19	1	1600	1	ZNF555	19	2853649	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319	2853649	56275334	13137	36639											
ZNF57	126295	broad.mit.edu	37	chr19	2917641	2917641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctataaatgtgaacactGtgggaaggcttttacctctt	11	14	8	8	0	2	1	0	1	2	0	2	2	2	2	1	2	2	1	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2917641G>A	ENST00000306908.5	+	4	1170	c.1022G>A	c.(1021-1023)tGt>tAt	p.C341Y	AC006277.2_ENST00000520090.2_RNA|ZNF57_ENST00000523428.1_Missense_Mutation_p.C309Y	NM_173480.2	NP_775751.1	Q68EA5	ZNF57_HUMAN	zinc finger protein 57	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				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)|GBM - Glioblastoma multiforme(1328;0.00161)|STAD - Stomach adenocarcinoma(1328;0.18)		TGTGAACACTGTGGGAAGGCT	0.448													A	2917641	G	A	2917641	3	1	364	1	0	0	0	0	1	0	0	0	18102	1377	48	2	1036	2	ZNF57	19	2917641	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63992	2917641	56211342	13138	36640											
ZNF77	58492	broad.mit.edu	37	chr19	2934794	2934794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccttcattactttcacAgagtctccccagctgacttc	9	13	5	14	0	3	3	2	2	1	1	5	3	3	3	3	0	2	1	3	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:2934794A>G	ENST00000314531.4	-	4	423	c.331T>C	c.(331-333)Tgt>Cgt	p.C111R		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TTACTTTCACAGAGTCTCCCC	0.413													G	2934794	A	G	2934794	3	3	364	1	0	0	0	0	1	0	0	0	18242	188	7	3	1310	3	ZNF77	19	2934794	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17153	2934794	56194189	13139	36641											
TLE2	7089	broad.mit.edu	37	chr19	3005496	3005496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcccagcagcgcaccGtgttgtccaggccccctgtc	5	7	12	17	2	0	0	0	0	0	0	3	0	2	0	5	2	2	4	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3005496G>A	ENST00000262953.6	-	17	2097	c.1835C>T	c.(1834-1836)aCg>aTg	p.T612M	TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Missense_Mutation_p.T626M|TLE2_ENST00000443826.3_Missense_Mutation_p.T490M|TLE2_ENST00000590536.1_Missense_Mutation_p.T613M|TLE2_ENST00000447365.2_Missense_Mutation_p.T279M|TLE2_ENST00000455444.2_Missense_Mutation_p.T490M|TLE2_ENST00000426948.2_Missense_Mutation_p.T626M	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	612					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GCAGCGCACCGTGTTGTCCAG	0.642													A	3005496	G	A	3005496	3	1	364	1	0	0	0	0	1	0	0	0	16039	1145	40	1	412	1	TLE2	19	3005496	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70702	3005496	56123487	13140	36642											
TLE2	7089	broad.mit.edu	37	chr19	3013775	3013775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagatgggtacctttccGcagggggtggtagccgggct	6	9	17	9	2	0	1	0	0	0	1	1	1	1	1	3	5	3	5	3	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3013775G>A	ENST00000262953.6	-	11	1027	c.765C>T	c.(763-765)tgC>tgT	p.C255C	TLE2_ENST00000587217.1_5'UTR|TLE2_ENST00000586422.1_Intron|TLE2_ENST00000591529.1_Silent_p.C269C|TLE2_ENST00000443826.3_Silent_p.C133C|TLE2_ENST00000590536.1_Silent_p.C256C|TLE2_ENST00000447365.2_5'UTR|TLE2_ENST00000455444.2_Silent_p.C133C|TLE2_ENST00000426948.2_Silent_p.C269C	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)	255	CCN domain.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GTACCTTTCCGCAGGGGGTGG	0.612													A	3013775	G	A	3013775	2	1	364	1	0	0	0	0	0	0	0	1	16039	1079	38	1		1	TLE2	19	3013775	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8279	3013775	56115208	13141	36643											
GNA11	2767	broad.mit.edu	37	chr19	3115036	3115036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccaccaccggcatcatcGagtaccctttcgacctggag	8	8	9	16	3	1	0	1	0	0	0	3	3	1	1	5	2	2	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3115036G>A	ENST00000078429.4	+	4	813	c.571G>A	c.(571-573)Gag>Aag	p.E191K		NM_002067.2	NP_002058.2	P29992	GNA11_HUMAN	guanine nucleotide binding protein (G protein), alpha 11 (Gq class)	191					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation|regulation of action potential	cytoplasm|heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(2)|eye(132)|kidney(1)|large_intestine(2)|lung(1)|meninges(5)|ovary(1)|prostate(1)|skin(16)	161		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.79e-05)|OV - Ovarian serous cystadenocarcinoma(105;2.68e-113)|Epithelial(107;1.22e-111)|all cancers(105;5.78e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00141)|STAD - Stomach adenocarcinoma(1328;0.181)		CGGCATCATCGAGTACCCTTT	0.662			Mis		uveal melanoma								A	3115036	G	A	3115036	3	1	364	1	0	0	0	0	1	0	0	0	6555	1059	37	1	585	1	GNA11	19	3115036	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101261	3115036	56013947	13142	36644											
GNA15	2769	broad.mit.edu	37	chr19	3151734	3151734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctggagcgcatcaccgAggagggctacgtccccacag	9	4	12	16	3	1	0	1	0	0	0	2	3	2	2	5	3	2	2	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3151734A>G	ENST00000262958.3	+	4	773	c.515A>G	c.(514-516)gAg>gGg	p.E172G	AC005264.2_ENST00000587587.1_RNA	NM_002068.2	NP_002059.2	P30679	GNA15_HUMAN	guanine nucleotide binding protein (G protein), alpha 15 (Gq class)	172					activation of phospholipase C activity by dopamine receptor signaling pathway|activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|elevation of cytosolic calcium ion concentration|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			large_intestine(5)|lung(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.04e-05)|OV - Ovarian serous cystadenocarcinoma(105;5.08e-113)|Epithelial(107;6.19e-111)|all cancers(105;6.19e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00145)|STAD - Stomach adenocarcinoma(1328;0.184)		CGCATCACCGAGGAGGGCTAC	0.632													G	3151734	A	G	3151734	3	3	364	1	0	0	0	0	1	0	0	0	6559	304	11	3	529	3	GNA15	19	3151734	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36698	3151734	55977249	13143	36645											
NCLN	56926	broad.mit.edu	37	chr19	3192602	3192602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcggcagtcggcgggcGccgtggtcatcatcctgccc	3	7	14	17	5	2	0	2	0	0	0	4	0	3	0	4	4	2	1	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3192602G>A	ENST00000246117.4	+	2	750	c.319G>A	c.(319-321)Gcc>Acc	p.A107T	NCLN_ENST00000590671.1_Missense_Mutation_p.A33T	NM_020170.3	NP_064555.2	Q969V3	NCLN_HUMAN	nicalin	107					proteolysis|regulation of signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	peptidase activity|protein binding			kidney(1)|lung(3)|skin(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.83e-113)|Epithelial(107;1.65e-111)|all cancers(105;1.53e-103)|BRCA - Breast invasive adenocarcinoma(158;0.00139)|STAD - Stomach adenocarcinoma(1328;0.18)		GTCGGCGGGCGCCGTGGTCAT	0.716													A	3192602	G	A	3192602	3	1	364	1	0	0	0	0	1	0	0	0	10303	1087	38	1	325	1	NCLN	19	3192602	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40868	3192602	55936381	13144	36646											
CELF5	60680	broad.mit.edu	37	chr19	3282219	3282219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatccagcagataggcgcCgtcagcctcaacgggctgcc	9	5	11	16	3	2	1	2	0	0	1	3	1	3	1	4	2	4	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3282219C>T	ENST00000541430.2	+	7	882	c.846C>T	c.(844-846)gcC>gcT	p.A282A	CELF5_ENST00000292672.2_Silent_p.A282A	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	282					mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						AGATAGGCGCCGTCAGCCTCA	0.647													T	3282219	C	T	3282219	2	4	364	1	0	0	0	0	0	0	0	1	3249	639	23	1		1	CELF5	19	3282219	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89617	3282219	55846764	13145	36647											
NFIC	4782	broad.mit.edu	37	chr19	3382050	3382050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgactgtctccggcaggCggacaaggtgtggcggctgg	6	7	17	11	4	1	0	0	0	1	0	3	2	1	1	1	7	0	2	1	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3382050C>T	ENST00000589123.1	+	2	464	c.344C>T	c.(343-345)gCg>gTg	p.A115V	NFIC_ENST00000346156.5_Missense_Mutation_p.A115V|NFIC_ENST00000395111.3_Missense_Mutation_p.A115V|NFIC_ENST00000443272.2_Missense_Mutation_p.A124V|NFIC_ENST00000341919.3_Missense_Mutation_p.A124V|NFIC_ENST00000586919.1_Missense_Mutation_p.A115V|NFIC_ENST00000590282.1_Missense_Mutation_p.A124V	NM_001245005.1|NM_205843.2	NP_001231934.1|NP_995315.1	P08651	NFIC_HUMAN	nuclear factor I/C (CCAAT-binding transcription factor)	124					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;7.8e-05)|Epithelial(107;2.94e-108)|BRCA - Breast invasive adenocarcinoma(158;0.00154)|STAD - Stomach adenocarcinoma(1328;0.191)		CTCCGGCAGGCGGACAAGGTG	0.662													T	3382050	C	T	3382050	3	4	364	1	0	0	0	0	1	0	0	0	10448	768	27	1	384	1	NFIC	19	3382050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99831	3382050	55746933	13146	36648											
FZR1	51343	broad.mit.edu	37	chr19	3527008	3527008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccaagcgctccagccccGatgacggcaacgatgtgtct	9	6	11	15	4	1	1	0	1	1	0	2	3	2	1	4	1	3	3	4	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3527008G>A	ENST00000441788.2	+	6	654	c.418G>A	c.(418-420)Gat>Aat	p.D140N	FZR1_ENST00000313639.8_Intron|FZR1_ENST00000395095.3_Missense_Mutation_p.D140N	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	140					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCAGCCCCGATGACGGCAA	0.662													A	3527008	G	A	3527008	3	1	364	1	0	0	0	0	1	0	0	0	6190	1058	37	1	436	1	FZR1	19	3527008	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144958	3527008	55601975	13147	36649											
TBXA2R	6915	broad.mit.edu	37	chr19	3600109	3600109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaccccgggtattgcacgGtgtagcgacccacgcccagc	8	5	13	15	4	0	0	0	0	0	0	0	2	0	1	4	3	3	3	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3600109G>A	ENST00000375190.4	-	2	917	c.524C>T	c.(523-525)aCc>aTc	p.T175I	TBXA2R_ENST00000587717.1_5'UTR|TBXA2R_ENST00000589966.1_Intron|TBXA2R_ENST00000411851.3_Missense_Mutation_p.T175I	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	175					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GTATTGCACGGTGTAGCGACC	0.751													A	3600109	G	A	3600109	3	1	364	1	0	0	0	0	1	0	0	0	15763	1261	44	2	760	2	TBXA2R	19	3600109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73101	3600109	55528874	13148	36650											
PIP5K1C	23396	broad.mit.edu	37	chr19	3643317	3643317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggatgacagagtcgtggCaatggaggctgtagtggctt	8	11	17	5	1	0	2	0	1	0	1	1	4	0	4	0	5	0	4	0	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3643317C>T	ENST00000335312.3	-	13	1661	c.1573G>A	c.(1573-1575)Gcc>Acc	p.A525T	PIP5K1C_ENST00000589578.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000537021.1_Missense_Mutation_p.A525T|PIP5K1C_ENST00000539785.1_Missense_Mutation_p.A525T	NM_001195733.1|NM_012398.2	NP_001182662.1|NP_036530.1	O60331	PI51C_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, gamma	525					axon guidance	cytosol|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding			large_intestine(3)|ovary(1)|skin(3)|stomach(2)	9		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.95e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0026)|STAD - Stomach adenocarcinoma(1328;0.183)		AGAGTCGTGGCAATGGAGGCT	0.652													T	3643317	C	T	3643317	3	4	364	1	0	0	0	0	1	0	0	0	12018	710	25	2	457	2	PIP5K1C	19	3643317	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43208	3643317	55485666	13149	36651											
TJP3	27134	broad.mit.edu	37	chr19	3728653	3728653	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggccgagaccggcccGgtggatccatggttgtatct	6	9	15	11	3	1	1	0	0	1	1	2	4	2	3	4	6	0	2	4	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3728653G>A	ENST00000539908.2	+	0	111				TJP3_ENST00000541714.2_Missense_Mutation_p.G34S|TJP3_ENST00000587686.1_Missense_Mutation_p.G53S|TJP3_ENST00000262968.9_Missense_Mutation_p.G53S|TJP3_ENST00000589378.1_Missense_Mutation_p.G43S|TJP3_ENST00000382008.3_Missense_Mutation_p.G34S			O95049	ZO3_HUMAN	tight junction protein 3							tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCGGCCCGGTGGATCCAT	0.642													A	3728653	G	A	3728653	1	1	364	1	0	0	0	0	0	0	0	0	16031	1116	39	1		1	TJP3	19	3728653	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85336	3728653	55400330	13150	36652											
TJP3	27134	broad.mit.edu	37	chr19	3735606	3735606	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttcagtagattccagAaccatctcggaaccagatga	15	8	9	9	1	2	4	1	1	1	3	4	6	3	5	3	1	2	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3735606A>T	ENST00000541714.2	+	9	1491	c.1029A>T	c.(1027-1029)agA>agT	p.R343S	TJP3_ENST00000539908.2_Missense_Mutation_p.R307S|TJP3_ENST00000587686.1_Missense_Mutation_p.R362S|TJP3_ENST00000262968.9_Missense_Mutation_p.R376S|TJP3_ENST00000589378.1_Missense_Mutation_p.R352S|TJP3_ENST00000382008.3_Missense_Mutation_p.R357S	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	357						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		TAGATTCCAGAACCATCTCGG	0.557													T	3735606	A	T	3735606	3	4	364	1	0	0	0	0	1	0	0	0	16031	243	9	5	1158	5	TJP3	19	3735606	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6953	3735606	55393377	13151	36653											
RAX2	84839	broad.mit.edu	37	chr19	3771688	3771688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggggcctcctcgcccGgccccagacccccaccctcg	3	6	10	22	3	1	1	0	0	1	1	4	1	2	1	8	3	0	0	8	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3771688G>A	ENST00000555633.1	-	2	393	c.53C>T	c.(52-54)cCg>cTg	p.P18L	RAX2_ENST00000555978.1_Missense_Mutation_p.P18L			Q96IS3	RAX2_HUMAN	retina and anterior neural fold homeobox 2	18					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)	1		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00463)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCCTCGCCCGGCCCCAGACC	0.701													A	3771688	G	A	3771688	3	1	364	1	0	0	0	0	1	0	0	0	13185	1116	39	1	509	1	RAX2	19	3771688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36082	3771688	55357295	13152	36654											
MATK	4145	broad.mit.edu	37	chr19	3779617	3779617	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgtgttgcatcttccTgggggcggtggggtgggcgt	1	13	19	8	3	2	0	0	0	2	0	4	0	3	0	1	6	1	3	1	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3779617T>C	ENST00000310132.6	-	10	1241		c.e10-2		MATK_ENST00000395045.2_Splice_Site|MATK_ENST00000585778.1_Splice_Site|MATK_ENST00000395040.2_Splice_Site	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase						cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCATCTTCCTGGGGGCGGTG	0.692													C	3779617	T	C	3779617	5	2	364	1	0	0	0	0	0	0	1	0	9407	1594	55	3	702	3	MATK	19	3779617	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7929	3779617	55349366	13153	36655											
ZFR2	23217	broad.mit.edu	37	chr19	3825226	3825226	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacgcatacagacacacgtAccctcgcataaggccttcga	13	6	7	15	4	0	1	0	0	0	1	2	2	0	1	2	1	2	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3825226A>G	ENST00000262961.4	-	7	1224		c.e7+1			NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2							intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		AGACACACGTACCCTCGCATA	0.597													G	3825226	A	G	3825226	5	3	364	1	0	0	0	0	0	0	1	0	17761	405	14	3	1656	3	ZFR2	19	3825226	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45609	3825226	55303757	13154	36656											
DAPK3	1613	broad.mit.edu	37	chr19	3959164	3959164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgcacgaggtcctgcaCgaagcgcatctcggaggcta	8	5	15	13	6	1	0	0	0	1	0	3	3	2	1	1	4	2	4	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3959164C>T	ENST00000545797.2	-	9	1543	c.1300G>A	c.(1300-1302)Gtg>Atg	p.V434M	DAPK3_ENST00000301264.3_Missense_Mutation_p.V434M			O43293	DAPK3_HUMAN	death-associated protein kinase 3	434	Interaction with CDC5L (By similarity).				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTCCTGCACGAAGCGCATC	0.721													T	3959164	C	T	3959164	3	4	364	1	0	0	0	0	1	0	0	0	4271	536	19	1	68	1	DAPK3	19	3959164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133938	3959164	55169819	13155	36657											
DAPK3	1613	broad.mit.edu	37	chr19	3964909	3964909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgccggctggatgacaggCggcgcttcttgatgaacttg	7	9	14	11	4	1	3	0	3	1	0	1	4	1	4	1	4	1	2	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964909C>T	ENST00000545797.2	-	3	386	c.143G>A	c.(142-144)cGc>cAc	p.R48H	DAPK3_ENST00000301264.3_Missense_Mutation_p.R48H			O43293	DAPK3_HUMAN	death-associated protein kinase 3	48	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		GGATGACAGGCGGCGCTTCTT	0.652													T	3964909	C	T	3964909	3	4	364	1	0	0	0	0	1	0	0	0	4271	768	27	1	1249	1	DAPK3	19	3964909	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5745	3964909	55164074	13156	36658											
DAPK3	1613	broad.mit.edu	37	chr19	3964928	3964928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgcttcttgatgaactTggctgcgtactccttgcccg	4	12	12	13	4	1	2	0	2	1	0	2	2	2	2	2	2	4	3	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3964928T>C	ENST00000545797.2	-	3	367	c.124A>G	c.(124-126)Aag>Gag	p.K42E	DAPK3_ENST00000301264.3_Missense_Mutation_p.K42E			O43293	DAPK3_HUMAN	death-associated protein kinase 3	42	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGATGAACTTGGCTGCGTAC	0.667													C	3964928	T	C	3964928	3	2	364	1	0	0	0	0	1	0	0	0	4271	1821	63	3	1268	3	DAPK3	19	3964928	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	19	3964928	55164055	13157	36659											
EEF2	1938	broad.mit.edu	37	chr19	3980680	3980680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatatacatcataagaGggcctttggggtcacagctt	12	11	11	7	0	2	1	2	0	0	1	2	2	2	2	1	4	2	1	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:3980680G>T	ENST00000309311.6	-	9	1266	c.1178C>A	c.(1177-1179)cCt>cAt	p.P393H		NM_001961.3	NP_001952.1	P13639	EF2_HUMAN	eukaryotic translation elongation factor 2	393						cytosol|ribonucleoprotein complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|GBM - Glioblastoma multiforme(1328;0.0223)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCATAAGAGGGCCTTTGGG	0.527													T	3980680	G	T	3980680	3	4	364	1	0	0	0	0	1	0	0	0	4968	1000	35	4	1426	4	EEF2	19	3980680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15752	3980680	55148303	13158	36660											
PIAS4	51588	broad.mit.edu	37	chr19	4033559	4033559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgacaagccagccccctacGaccagctcatcatcgacggg	10	4	10	17	4	2	0	2	0	0	0	3	3	2	0	4	1	4	1	4	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4033559G>A	ENST00000262971.2	+	9	1238	c.1123G>A	c.(1123-1125)Gac>Aac	p.D375N		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	375					positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCCCCCTACGACCAGCTCAT	0.677													A	4033559	G	A	4033559	3	1	364	1	0	0	0	0	1	0	0	0	11955	1058	37	1	1157	1	PIAS4	19	4033559	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52879	4033559	55095424	13159	36661											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054026	4054026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcgcccgtgtgggtgCggatgtgtcgcggcagcttg	2	11	17	11	5	1	0	0	0	1	0	3	1	1	1	1	3	2	3	1	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054026C>T	ENST00000322357.4	-	2	1483	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.R402H	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	402					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		CGTGTGGGTGCGGATGTGTCG	0.657													T	4054026	C	T	4054026	3	4	364	1	0	0	0	0	1	0	0	0	17654	768	27	1	557	1	ZBTB7A	19	4054026	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20467	4054026	55074957	13160	36662											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054046	4054046	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgtgtcgcggcagcttGccggcgccctggatgacctt	4	9	15	13	5	0	1	0	1	0	0	1	3	0	3	3	4	2	2	3	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054046G>A	ENST00000322357.4	-	2	1463	c.1185C>T	c.(1183-1185)ggC>ggT	p.G395G	ZBTB7A_ENST00000601588.1_Silent_p.G395G	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	395					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		GCGGCAGCTTGCCGGCGCCCT	0.657													A	4054046	G	A	4054046	2	1	364	1	0	0	0	0	0	0	0	1	17654	1306	46	2		2	ZBTB7A	19	4054046	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20	4054046	55074937	13161	36663											
ZBTB7A	51341	broad.mit.edu	37	chr19	4054174	4054174	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgccgctgaagtacttcaGgtagtagtccatgacgccct	8	9	12	12	3	1	2	1	2	0	0	2	2	2	2	3	2	1	4	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4054174G>T	ENST00000322357.4	-	2	1335	c.1057C>A	c.(1057-1059)Ctg>Atg	p.L353M	ZBTB7A_ENST00000601588.1_Missense_Mutation_p.L353M	NM_015898.2	NP_056982.1	O95365	ZBT7A_HUMAN	zinc finger and BTB domain containing 7A	353					cell differentiation|multicellular organismal development|transcription, DNA-dependent	nucleus	DNA binding|histone acetyltransferase binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	14		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.014)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGTACTTCAGGTAGTAGTCC	0.667													T	4054174	G	T	4054174	3	4	364	1	0	0	0	0	1	0	0	0	17654	991	35	4	705	4	ZBTB7A	19	4054174	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128	4054174	55074809	13162	36664											
MAP2K2	5605	broad.mit.edu	37	chr19	4110573	4110573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtagaagcccacgatgtaCggcgagttgcattcgtgcag	9	8	13	11	5	0	1	0	0	0	1	1	3	0	1	2	1	4	5	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4110573C>T	ENST00000262948.5	-	3	637	c.384G>A	c.(382-384)ccG>ccA	p.P128P	MAP2K2_ENST00000394867.4_Silent_p.P31P|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	128	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CCACGATGTACGGCGAGTTGC	0.622													T	4110573	C	T	4110573	2	4	364	1	0	0	0	0	0	0	0	1	9312	523	19	1		1	MAP2K2	19	4110573	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56399	4110573	55018410	13163	36665											
MAP2K2	5605	broad.mit.edu	37	chr19	4117563	4117563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgagaaaggcttccagccGcttcttctgctgctcgtcaa	7	11	11	12	2	3	1	1	1	2	1	5	2	4	1	2	2	3	4	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4117563G>A	ENST00000262948.5	-	2	410	c.157C>T	c.(157-159)Cgg>Tgg	p.R53W	MAP2K2_ENST00000394867.4_5'UTR|MAP2K2_ENST00000599345.1_5'UTR	NM_030662.3	NP_109587.1	P36507	MP2K2_HUMAN	mitogen-activated protein kinase kinase 2	53					activation of MAPK activity|activation of MAPKK activity|axon guidance|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|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|extracellular region	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity						Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTTCCAGCCGCTTCTTCTGC	0.592													A	4117563	G	A	4117563	3	1	364	1	0	0	0	0	1	0	0	0	9312	1086	38	1	1085	1	MAP2K2	19	4117563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6990	4117563	55011420	13164	36666											
FSD1	79187	broad.mit.edu	37	chr19	4323207	4323207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcccccgtgcccgactgcCtgggtgtgcactgtgacttc	4	9	12	16	3	0	1	0	1	0	0	1	2	0	1	4	1	3	1	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4323207C>A	ENST00000221856.6	+	11	1411	c.1264C>A	c.(1264-1266)Ctg>Atg	p.L422M	FSD1_ENST00000597590.1_Intron	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	422	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCCGACTGCCTGGGTGTGCA	0.657													A	4323207	C	A	4323207	3	1	364	1	0	0	0	0	1	0	0	0	6122	680	24	4	1306	4	FSD1	19	4323207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	205644	4323207	54805776	13165	36667											
STAP2	55620	broad.mit.edu	37	chr19	4325454	4325454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtcacgtagttctcttcCtggttcggtagtgggggcag	4	12	17	8	2	2	0	1	0	1	0	5	0	3	0	1	6	0	5	1	6	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4325454C>A	ENST00000600324.1	-	10	985	c.918G>T	c.(916-918)caG>caT	p.Q306H	STAP2_ENST00000597593.1_5'UTR|STAP2_ENST00000594605.1_Missense_Mutation_p.Q306H	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	306	Pro-rich.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTTCTCTTCCTGGTTCGGTA	0.612													A	4325454	C	A	4325454	3	1	364	1	0	0	0	0	1	0	0	0	15349	680	24	4	447	4	STAP2	19	4325454	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2247	4325454	54803529	13166	36668											
STAP2	55620	broad.mit.edu	37	chr19	4332028	4332028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actactcttacctccaccacCgttaagatgaagcctttcca	11	11	4	15	1	1	2	0	1	1	1	3	2	3	2	6	0	3	1	6	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4332028C>T	ENST00000600324.1	-	4	412	c.345G>A	c.(343-345)acG>acA	p.T115T	STAP2_ENST00000594605.1_Silent_p.T115T	NM_017720.2	NP_060190.2	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	115	PH.					cytoplasm|nucleus	protein binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCACCACCGTTAAGATGA	0.453													T	4332028	C	T	4332028	2	4	364	1	0	0	0	0	0	0	0	1	15349	639	23	1		1	STAP2	19	4332028	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6574	4332028	54796955	13167	36669											
MPND	84954	broad.mit.edu	37	chr19	4352926	4352926	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggggaggaggaggagttGctgatggaagaggaggagga	13	4	23	1	0	0	2	0	1	0	1	0	11	0	10	0	9	1	2	0	9	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4352926G>A	ENST00000599840.1	+	4	599	c.564G>A	c.(562-564)ttG>ttA	p.L188L	MPND_ENST00000359935.4_Silent_p.L188L|AC007292.4_ENST00000594776.1_RNA|MPND_ENST00000262966.8_Silent_p.L188L			Q8N594	MPND_HUMAN	MPN domain containing	188							peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		aggaggagttgctgatggaag	0.652													A	4352926	G	A	4352926	2	1	364	1	0	0	0	0	0	0	0	1	9807	1310	46	2		2	MPND	19	4352926	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20898	4352926	54776057	13168	36670											
CHAF1A	10036	broad.mit.edu	37	chr19	4418033	4418033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagataactaagaaattcgTcaaaggctctacagagaaga	18	8	8	7	1	3	4	2	0	1	4	4	5	3	4	0	1	2	1	0	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4418033T>C	ENST00000301280.5	+	4	1078	c.977T>C	c.(976-978)gTc>gCc	p.V326A		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	326	Arg/Glu/Lys-rich.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGAAATTCGTCAAAGGCTCT	0.348								Chromatin Structure					C	4418033	T	C	4418033	3	2	364	1	0	0	0	0	1	0	0	0	3341	1667	58	3	991	3	CHAF1A	19	4418033	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	65107	4418033	54710950	13169	36671											
CHAF1A	10036	broad.mit.edu	37	chr19	4429437	4429437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggttttccttctcagtgAtgtcgtcatcgtggagcgtg	4	15	14	8	3	2	1	2	1	1	0	6	2	3	2	1	3	1	1	1	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4429437A>G	ENST00000301280.5	+	9	1708	c.1607A>G	c.(1606-1608)gAt>gGt	p.D536G		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	536					cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTCTCAGTGATGTCGTCATC	0.572								Chromatin Structure					G	4429437	A	G	4429437	3	3	364	1	0	0	0	0	1	0	0	0	3341	333	12	3	1641	3	CHAF1A	19	4429437	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11404	4429437	54699546	13170	36672											
CHAF1A	10036	broad.mit.edu	37	chr19	4430615	4430615	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgccccatgggtacctgTctgaggacgaaggtgtgaca	8	10	14	9	1	1	2	0	2	1	0	1	4	1	3	3	3	2	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4430615T>C	ENST00000301280.5	+	11	2025	c.1924T>C	c.(1924-1926)Tct>Cct	p.S642P	CTB-50L17.5_ENST00000590159.1_RNA	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	642	Necessary for homodimerization and competence for chromatin assembly.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGGTACCTGTCTGAGGACGA	0.507								Chromatin Structure					C	4430615	T	C	4430615	3	2	364	1	0	0	0	0	1	0	0	0	3341	1667	58	3	1966	3	CHAF1A	19	4430615	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1178	4430615	54698368	13171	36673											
CHAF1A	10036	broad.mit.edu	37	chr19	4432086	4432086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggcggctgacagagaCtgcgcaggcgatgacctgaa	9	6	17	9	3	0	4	0	3	0	1	0	6	0	4	1	3	1	2	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4432086C>A	ENST00000301280.5	+	12	2186	c.2085C>A	c.(2083-2085)gaC>gaA	p.D695E	CHAF1A_ENST00000587368.1_3'UTR	NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	695	Binds to p60.				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGACAGAGACTGCGCAGGCG	0.637								Chromatin Structure					A	4432086	C	A	4432086	3	1	364	1	0	0	0	0	1	0	0	0	3341	564	20	4	2131	4	CHAF1A	19	4432086	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1471	4432086	54696897	13172	36674											
UBXN6	80700	broad.mit.edu	37	chr19	4452490	4452490	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctgggctcagatacCtggggcggtgaaagcgtcca	7	9	13	12	2	2	2	1	1	1	1	5	2	4	2	3	4	2	1	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4452490C>A	ENST00000301281.6	-	4	437		c.e4-1		UBXN6_ENST00000394765.3_Splice_Site	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6							microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						GCTCAGATACCTGGGGCGGTG	0.647													A	4452490	C	A	4452490	5	1	364	1	0	0	0	0	0	0	1	0	17019	695	24	4	1045	4	UBXN6	19	4452490	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20404	4452490	54676493	13173	36675											
HDGFRP2	84717	broad.mit.edu	37	chr19	4491791	4491791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaagaaagcagcggtcCgggcgccacggaggggccct	9	3	17	12	4	0	2	0	1	0	2	1	4	1	3	3	5	2	1	3	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4491791C>T	ENST00000301284.4	+	6	701	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R213W	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		213	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGCAGCGGTCCGGGCGCCACG	0.627													T	4491791	C	T	4491791	3	4	364	1	0	0	0	0	1	0	0	0	7075	643	23	1	659	1	HDGFRP2	19	4491791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39301	4491791	54637192	13174	36676											
HDGFRP2	84717	broad.mit.edu	37	chr19	4499514	4499514	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttacaaagcgaacaaggaCgtaatggagaaggcagcaga	17	4	13	7	3	0	2	0	0	0	2	0	5	0	3	0	3	4	4	0	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499514C>T	ENST00000301284.4	+	14	1666	c.1602C>T	c.(1600-1602)gaC>gaT	p.D534D	HDGFRP2_ENST00000586684.1_Silent_p.D534D	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		534					transcription, DNA-dependent	nucleus	DNA binding|protein binding										CGAACAAGGACGTAATGGAGA	0.602													T	4499514	C	T	4499514	2	4	364	1	0	0	0	0	0	0	0	1	7075	535	19	1		1	HDGFRP2	19	4499514	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7723	4499514	54629469	13175	36677											
HDGFRP2	84717	broad.mit.edu	37	chr19	4499545	4499545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcagaagtctataccCggctcaagtcgcgggtcctc	9	7	12	13	3	2	1	1	0	1	1	5	1	3	1	2	3	2	3	2	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4499545C>T	ENST00000301284.4	+	14	1697	c.1633C>T	c.(1633-1635)Cgg>Tgg	p.R545W	HDGFRP2_ENST00000586684.1_Missense_Mutation_p.R545W	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		545					transcription, DNA-dependent	nucleus	DNA binding|protein binding										AGTCTATACCCGGCTCAAGTC	0.592													T	4499545	C	T	4499545	3	4	364	1	0	0	0	0	1	0	0	0	7075	643	23	1	1687	1	HDGFRP2	19	4499545	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31	4499545	54629438	13176	36678											
PLIN4	729359	broad.mit.edu	37	chr19	4510834	4510834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggtgctgaggccagtGtgggtggcccctgtcgccac	5	8	17	11	1	0	1	0	1	0	0	1	2	0	2	4	5	1	1	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510834G>A	ENST00000301286.3	-	3	3095	c.3096C>T	c.(3094-3096)caC>caT	p.H1032H		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1032						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TGAGGCCAGTGTGGGTGGCCC	0.632													A	4510834	G	A	4510834	2	1	364	1	0	0	0	0	0	0	0	1	12169	1368	48	2		2	PLIN4	19	4510834	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11289	4510834	54618149	13177	36679											
PLIN4	729359	broad.mit.edu	37	chr19	4510998	4510998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagacagtgtccttggtacCcataagcacagccttggagg	11	8	12	10	0	0	1	0	0	0	1	1	3	1	2	3	3	3	2	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4510998C>T	ENST00000301286.3	-	3	2931	c.2932G>A	c.(2932-2934)Ggt>Agt	p.G978S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	978	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCCTTGGTACCCATAAGCACA	0.617													T	4510998	C	T	4510998	3	4	364	1	0	0	0	0	1	0	0	0	12169	623	22	2	1157	2	PLIN4	19	4510998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164	4510998	54617985	13178	36680											
PLIN4	729359	broad.mit.edu	37	chr19	4512219	4512219	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggctgtgtctacacctgTctggacagcccccttggcca	5	11	10	15	0	2	0	0	0	2	0	2	1	2	1	4	3	2	1	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4512219T>G	ENST00000301286.3	-	3	1710	c.1711A>C	c.(1711-1713)Aca>Cca	p.T571P		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	571	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						TCTACACCTGTCTGGACAGCC	0.612													G	4512219	T	G	4512219	3	3	364	1	0	0	0	0	1	0	0	0	12169	1667	58	5	2378	5	PLIN4	19	4512219	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1221	4512219	54616764	13179	36681											
PLIN4	729359	broad.mit.edu	37	chr19	4513206	4513206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttactggtgtccacacCggtctgaatgcttcctctgg	6	13	10	12	1	3	1	0	1	3	0	5	1	5	1	3	3	2	1	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4513206C>T	ENST00000301286.3	-	3	723	c.724G>A	c.(724-726)Ggt>Agt	p.G242S		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	242	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane		p.G170S(1)|p.G242S(1)		NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						GTGTCCACACCGGTCTGAATG	0.572													T	4513206	C	T	4513206	3	4	364	1	0	0	0	0	1	0	0	0	12169	652	23	1	3365	1	PLIN4	19	4513206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	987	4513206	54615777	13180	36682											
LRG1	116844	broad.mit.edu	37	chr19	4538043	4538043	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgggaaaacatcttgtctTtttgggcctgaagccaacga	10	12	10	9	1	3	1	0	1	3	0	3	3	3	2	2	2	3	0	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4538043T>C	ENST00000306390.6	-	2	1413	c.953A>G	c.(952-954)aAa>aGa	p.K318R	CTB-50L17.14_ENST00000586020.1_Intron	NM_052972.2	NP_443204.1	P02750	A2GL_HUMAN	leucine-rich alpha-2-glycoprotein 1	318	LRRCT.					extracellular region|membrane				NS(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		CATCTTGTCTTTTTGGGCCTG	0.592													C	4538043	T	C	4538043	3	2	364	1	0	0	0	0	1	0	0	0	9012	1841	64	3	94	3	LRG1	19	4538043	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24837	4538043	54590940	13181	36683											
SEMA6B	10501	broad.mit.edu	37	chr19	4550817	4550817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagggggttctcaccggggtCgaggcacctgatcctccggc	5	7	16	13	3	1	1	1	1	1	0	5	3	3	1	4	6	0	2	4	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4550817C>T	ENST00000586582.1	-	11	1425	c.1115G>A	c.(1114-1116)cGa>cAa	p.R372Q	SEMA6B_ENST00000586965.1_Missense_Mutation_p.R372Q|SEMA6B_ENST00000301293.3_Missense_Mutation_p.R372Q	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	372	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCACCGGGGTCGAGGCACCTG	0.627													T	4550817	C	T	4550817	3	4	364	1	0	0	0	0	1	0	0	0	14133	884	31	1	1579	1	SEMA6B	19	4550817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12774	4550817	54578166	13182	36684											
DPP9	91039	broad.mit.edu	37	chr19	4682774	4682774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccgtgctggttgttctcaGggacgtccatgtagcgctca	6	11	13	11	3	2	0	2	0	1	0	4	1	3	1	2	2	3	5	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4682774G>T	ENST00000262960.9	-	20	2685	c.2408C>A	c.(2407-2409)cCt>cAt	p.P803H	DPP9_ENST00000598800.1_Missense_Mutation_p.P774H|AC005594.3_ENST00000381796.1_RNA|DPP9_ENST00000594671.1_Missense_Mutation_p.P774H	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	774					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GTTGTTCTCAGGGACGTCCAT	0.647													T	4682774	G	T	4682774	3	4	364	1	0	0	0	0	1	0	0	0	4772	1000	35	4	282	4	DPP9	19	4682774	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131957	4682774	54446209	13183	36685											
DPP9	91039	broad.mit.edu	37	chr19	4697661	4697661	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttctcctgggtcgagacGatctgaagggaaacaaacag	12	8	11	10	2	2	2	0	1	2	1	5	5	3	3	2	2	2	0	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4697661G>A	ENST00000262960.9	-	11	1354	c.1077C>T	c.(1075-1077)atC>atT	p.I359I	DPP9_ENST00000598800.1_Silent_p.I330I|DPP9_ENST00000597849.1_Silent_p.I359I|DPP9_ENST00000594671.1_Silent_p.I330I	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	330					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GGGTCGAGACGATCTGAAGGG	0.632													A	4697661	G	A	4697661	2	1	364	1	0	0	0	0	0	0	0	1	4772	1048	37	1		1	DPP9	19	4697661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14887	4697661	54431322	13184	36686											
DPP9	91039	broad.mit.edu	37	chr19	4714097	4714097	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagggcccggcttacccagGtagtagaggcggtgggagtg	7	6	19	9	2	0	1	0	0	0	1	0	2	0	2	2	6	1	4	2	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4714097G>A	ENST00000262960.9	-	4	586	c.309C>T	c.(307-309)taC>taT	p.Y103Y	DPP9_ENST00000598800.1_Silent_p.Y74Y|DPP9_ENST00000597849.1_Silent_p.Y103Y|DPP9_ENST00000594671.1_Silent_p.Y74Y	NM_139159.4	NP_631898.3	Q86TI2	DPP9_HUMAN	dipeptidyl-peptidase 9	74					proteolysis	cytosol|membrane	aminopeptidase activity|serine-type peptidase activity			cervix(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00884)		GCTTACCCAGGTAGTAGAGGC	0.622													A	4714097	G	A	4714097	2	1	364	1	0	0	0	0	0	0	0	1	4772	1256	44	2		2	DPP9	19	4714097	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16436	4714097	54414886	13185	36687											
ARRDC5	645432	broad.mit.edu	37	chr19	4891208	4891208	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacggtggtgaccagctcGtagcgagtgtgcatgatctc	7	10	14	10	3	1	2	0	2	1	0	3	3	1	2	1	2	4	4	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:4891208G>A	ENST00000381781.2	-	3	878	c.879C>T	c.(877-879)taC>taT	p.Y293Y		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	293					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		TGACCAGCTCGTAGCGAGTGT	0.607													A	4891208	G	A	4891208	2	1	364	1	0	0	0	0	0	0	0	1	991	1140	40	1		1	ARRDC5	19	4891208	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	177111	4891208	54237775	13186	36688											
KDM4B	23030	broad.mit.edu	37	chr19	5032937	5032937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggcgcccagaaccccagCtgtaaaatcatgacgtttcg	11	7	9	14	4	1	2	1	1	0	1	2	2	1	2	3	1	2	3	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5032937C>A	ENST00000159111.4	+	3	254	c.36C>A	c.(34-36)agC>agA	p.S12R	KDM4B_ENST00000536461.1_Missense_Mutation_p.S12R|KDM4B_ENST00000381759.4_Missense_Mutation_p.S12R	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	12					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGAACCCCAGCTGTAAAATCA	0.592													A	5032937	C	A	5032937	3	1	364	1	0	0	0	0	1	0	0	0	8187	796	28	4	38	4	KDM4B	19	5032937	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	141729	5032937	54096046	13187	36689											
PTPRS	5802	broad.mit.edu	37	chr19	5210574	5210574	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtactggtagcgggcagagCgctcggccggccagtactgg	7	6	17	11	4	0	1	0	0	0	1	1	1	0	1	2	5	4	5	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5210574C>T	ENST00000372412.4	-	35	5629	c.5396G>A	c.(5395-5397)cGc>cAc	p.R1799H	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Missense_Mutation_p.R1798H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R1778H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R1798H|PTPRS_ENST00000353284.2_Missense_Mutation_p.R1351H|PTPRS_ENST00000348075.2_Missense_Mutation_p.R1760H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R1351H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R1760H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1798	Tyrosine-protein phosphatase 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGGCAGAGCGCTCGGCCGG	0.597													T	5210574	C	T	5210574	3	4	364	1	0	0	0	0	1	0	0	0	12899	768	27	1	469	1	PTPRS	19	5210574	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177637	5210574	53918409	13188	36690											
PTPRS	5802	broad.mit.edu	37	chr19	5240339	5240339	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggttcatgggctggccCggcactgtgggggtgcaggg	4	7	20	10	2	1	0	1	0	0	0	1	0	1	0	1	7	1	5	1	7	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5240339C>T	ENST00000372412.4	-	12	1811	c.1578G>A	c.(1576-1578)ccG>ccA	p.P526P	PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000357368.4_Silent_p.P525P|PTPRS_ENST00000262963.6_Silent_p.P521P|PTPRS_ENST00000587303.1_Silent_p.P525P|PTPRS_ENST00000353284.2_Silent_p.P512P|PTPRS_ENST00000348075.2_Silent_p.P512P|PTPRS_ENST00000592099.1_Silent_p.P512P|PTPRS_ENST00000588012.1_Silent_p.P512P			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	525	Fibronectin type-III 3.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		TGGGCTGGCCCGGCACTGTGG	0.657													T	5240339	C	T	5240339	2	4	364	1	0	0	0	0	0	0	0	1	12899	639	23	1		1	PTPRS	19	5240339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29765	5240339	53888644	13189	36691											
SAFB2	9667	broad.mit.edu	37	chr19	5590372	5590372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcacgggagtcccggccGtggcgctctgggggtcctcc	3	7	15	16	4	2	0	1	0	1	0	5	1	5	1	5	5	0	1	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5590372G>A	ENST00000252542.4	-	18	2706	c.2442C>T	c.(2440-2442)caC>caT	p.H814H		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	814	Gly-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		AGTCCCGGCCGTGGCGCTCTG	0.677													A	5590372	G	A	5590372	2	1	364	1	0	0	0	0	0	0	0	1	13898	1136	40	1		1	SAFB2	19	5590372	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350033	5590372	53538611	13190	36692											
RPL36	25873	broad.mit.edu	37	chr19	5691360	5691360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aacacaccaagttcgtgcggGacatgattcgggaggtgtgt	10	9	14	8	3	0	1	0	1	0	0	2	3	0	3	1	3	2	1	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5691360G>A	ENST00000577222.1	+	5	668	c.124G>A	c.(124-126)Gac>Aac	p.D42N	RPL36_ENST00000579649.1_Missense_Mutation_p.D42N|RPL36_ENST00000579446.1_Missense_Mutation_p.D42N|RPL36_ENST00000394580.2_Missense_Mutation_p.D42N|RPL36_ENST00000347512.3_Missense_Mutation_p.D42N			Q9Y3U8	RL36_HUMAN	ribosomal protein L36	42					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	protein binding|structural constituent of ribosome			breast(1)|upper_aerodigestive_tract(1)	2						GTTCGTGCGGGACATGATTCG	0.577											OREG0025183	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	5691360	G	A	5691360	3	1	364	1	0	0	0	0	1	0	0	0	13677	1174	41	2	130	2	RPL36	19	5691360	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100988	5691360	53437623	13191	36693											
LONP1	9361	broad.mit.edu	37	chr19	5700874	5700874	+	Missense_Mutation	SNP	G	G	T																															ctgtgcccgcgccaggtccaGgttctcgttgctgtacttgc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700874G>T	ENST00000360614.3	-	9	1589	c.1432C>A	c.(1432-1434)Ctg>Atg	p.L478M	LONP1_ENST00000593119.1_Missense_Mutation_p.L414M|LONP1_ENST00000540670.2_Missense_Mutation_p.L282M|LONP1_ENST00000590729.1_Missense_Mutation_p.L348M|LONP1_ENST00000585374.1_Missense_Mutation_p.L364M	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	478					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCCAGGTCCAGGTTCTCGTTG	0.602													T	5700874	G	T	5700874	3	4	364	1	0	0	0	0	1	0	0	0	8962	991	35	4	1487	4	LONP1	19	5700874	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9514	5700874	53428109	13192	36694	106	2									
LONP1	9361	broad.mit.edu	37	chr19	5700881	5700881	+	Silent	SNP	G	G	A																															cgcgccaggtccaggttctcGttgctgtacttgccccaagg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5700881G>A	ENST00000360614.3	-	9	1582	c.1425C>T	c.(1423-1425)aaC>aaT	p.N475N	LONP1_ENST00000593119.1_Silent_p.N411N|LONP1_ENST00000540670.2_Silent_p.N279N|LONP1_ENST00000590729.1_Silent_p.N345N|LONP1_ENST00000585374.1_Silent_p.N361N	NM_004793.2	NP_004784.2	P36776	LONM_HUMAN	lon peptidase 1, mitochondrial	475					cellular chaperone-mediated protein complex assembly|cellular response to oxidative stress|misfolded or incompletely synthesized protein catabolic process|mitochondrial DNA metabolic process|oxidation-dependent protein catabolic process|protein homooligomerization|response to hypoxia	mitochondrial nucleoid	ADP binding|ATP binding|ATP-dependent peptidase activity|DNA polymerase binding|G-quadruplex DNA binding|mitochondrial heavy strand promoter anti-sense binding|mitochondrial light strand promoter anti-sense binding|sequence-specific DNA binding|serine-type endopeptidase activity|single-stranded DNA binding|single-stranded RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CCAGGTTCTCGTTGCTGTACT	0.607													A	5700881	G	A	5700881	2	1	364	1	0	0	0	0	0	0	0	1	8962	1136	40	1		1	LONP1	19	5700881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7	5700881	53428102	13193	36695	106	2									
PRR22	163154	broad.mit.edu	37	chr19	5783234	5783234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccaggatctcaggcaCgctgtagtcaaaggacagca	11	7	13	10	1	2	0	2	0	1	0	4	2	3	2	1	4	1	4	1	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5783234C>T	ENST00000419421.2	-	3	1128	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	340										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						ATCTCAGGCACGCTGTAGTCA	0.647													T	5783234	C	T	5783234	3	4	364	1	0	0	0	0	1	0	0	0	12679	536	19	1	248	1	PRR22	19	5783234	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82353	5783234	53345749	13194	36696											
DUS3L	56931	broad.mit.edu	37	chr19	5788144	5788144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccacatgtcacatccGccccgaagcgcttgcagatc	8	9	7	17	3	2	1	1	0	1	1	6	2	4	1	4	0	2	2	4	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5788144G>A	ENST00000309061.7	-	5	1082	c.986C>T	c.(985-987)gCg>gTg	p.A329V	DUS3L_ENST00000320699.8_Missense_Mutation_p.A87V	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	329					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						TGTCACATCCGCCCCGAAGCG	0.607													A	5788144	G	A	5788144	3	1	364	1	0	0	0	0	1	0	0	0	4846	1087	38	1	1002	1	DUS3L	19	5788144	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4910	5788144	53340839	13195	36697											
FUT6	2528	broad.mit.edu	37	chr19	5832132	5832132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgagattgaagtatccGtccatggctttcagctgcca	9	12	11	9	1	1	2	1	2	0	1	3	3	3	2	3	2	2	3	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832132G>A	ENST00000318336.4	-	3	1641	c.447C>T	c.(445-447)gaC>gaT	p.D149D	FUT6_ENST00000524754.1_Silent_p.D149D|FUT6_ENST00000286955.5_Silent_p.D149D|FUT6_ENST00000527106.1_Silent_p.D149D|FUT6_ENST00000592563.1_Silent_p.D149D	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	149					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TGAAGTATCCGTCCATGGCTT	0.657													A	5832132	G	A	5832132	2	1	364	1	0	0	0	0	0	0	0	1	6160	1136	40	1		1	FUT6	19	5832132	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43988	5832132	53296851	13196	36698											
FUT6	2528	broad.mit.edu	37	chr19	5832296	5832296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtggatacaccttgcggtCggcagtgatgttgcagtcag	7	11	14	9	2	1	1	1	1	0	0	2	2	1	2	1	3	3	3	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5832296C>T	ENST00000318336.4	-	3	1477	c.283G>A	c.(283-285)Gac>Aac	p.D95N	FUT6_ENST00000524754.1_Missense_Mutation_p.D95N|FUT6_ENST00000286955.5_Missense_Mutation_p.D95N|FUT6_ENST00000527106.1_Missense_Mutation_p.D95N|FUT6_ENST00000592563.1_Missense_Mutation_p.D95N	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	95					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						ACCTTGCGGTCGGCAGTGATG	0.632													T	5832296	C	T	5832296	3	4	364	1	0	0	0	0	1	0	0	0	6160	884	31	1	800	1	FUT6	19	5832296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	164	5832296	53296687	13197	36699											
FUT5	2527	broad.mit.edu	37	chr19	5867076	5867076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggctctggtagtagcGcaccctggccgagtccggct	5	8	14	14	3	1	0	0	0	1	0	2	1	2	0	3	4	2	6	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5867076G>A	ENST00000252675.5	-	5	1223	c.661C>T	c.(661-663)Cgc>Tgc	p.R221C	FUT5_ENST00000588525.1_Missense_Mutation_p.R221C			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	221					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						TGGTAGTAGCGCACCCTGGCC	0.667													A	5867076	G	A	5867076	3	1	364	1	0	0	0	0	1	0	0	0	6159	1087	38	1	467	1	FUT5	19	5867076	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34780	5867076	53261907	13198	36700											
RANBP3	8498	broad.mit.edu	37	chr19	5923913	5923914	+	Frame_Shift_Ins	INS	-	-	T																															tctgaactgacctcgtttaaINSttttggggggctctgcaggg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5923913_5923914insT	ENST00000340578.6	-	12	1065_1066	c.1008_1009insA	c.(1006-1011)aaattafs	p.L337fs	RANBP3_ENST00000591092.1_Frame_Shift_Ins_p.L264fs|RANBP3_ENST00000034275.8_Frame_Shift_Ins_p.L269fs|RANBP3_ENST00000439268.2_Frame_Shift_Ins_p.L332fs|RANBP3_ENST00000541471.1_Frame_Shift_Ins_p.L209fs	NM_003624.2|NM_007320.2|NM_007322.2	NP_003615.2|NP_015559.2|NP_015561.1	Q9H6Z4	RANB3_HUMAN	RAN binding protein 3	337					intracellular transport|protein transport	cytoplasm|nucleus	Ran GTPase binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	18						ACCTCGTTTAATTTTGGGGGGC	0.559													T	5923914	-	T	5923913	7	5	364	1	0	1	1	0	0	0	0	0	13117	98	4	0	718	0	RANBP3	19	5923913	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	56837	5923913	53205070	13199	36701											
RFX2	5990	broad.mit.edu	37	chr19	5994951	5994951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgccacgctgctcatcGcccatgtcatctgcggaggg	5	9	12	15	4	3	0	2	0	1	0	5	1	3	1	2	2	3	3	2	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:5994951G>A	ENST00000303657.5	-	18	2216	c.2067C>T	c.(2065-2067)ggC>ggT	p.G689G	RFX2_ENST00000359161.3_Silent_p.G689G|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.G664G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	689					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GCTGCTCATCGCCCATGTCAT	0.662													A	5994951	G	A	5994951	2	1	364	1	0	0	0	0	0	0	0	1	13351	1074	38	1		1	RFX2	19	5994951	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71038	5994951	53134032	13200	36702											
RFX2	5990	broad.mit.edu	37	chr19	6004263	6004263	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcatttgtcaaccaGccttccaagctcttggcaaa	10	11	7	13	0	3	0	2	0	1	0	4	0	4	0	3	2	3	3	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6004263G>A	ENST00000303657.5	-	13	1598	c.1449C>T	c.(1447-1449)ggC>ggT	p.G483G	RFX2_ENST00000359161.3_Silent_p.G483G|CTC-232P5.1_ENST00000587836.1_RNA|RFX2_ENST00000592546.1_Silent_p.G458G	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TTGTCAACCAGCCTTCCAAGC	0.577													A	6004263	G	A	6004263	2	1	364	1	0	0	0	0	0	0	0	1	13351	958	34	2		2	RFX2	19	6004263	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9312	6004263	53124720	13201	36703											
ACSBG2	81616	broad.mit.edu	37	chr19	6147597	6147597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttggaacttatccagccCtcgcatccaagaatggcaaa	13	9	8	11	1	0	1	0	0	0	1	3	3	2	2	3	2	2	2	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6147597C>A	ENST00000588304.1	+	3	504	c.58C>A	c.(58-60)Ctc>Atc	p.L20I	ACSBG2_ENST00000588485.1_5'UTR|ACSBG2_ENST00000252669.5_Missense_Mutation_p.L70I|ACSBG2_ENST00000586696.1_Missense_Mutation_p.L70I|ACSBG2_ENST00000591403.1_Missense_Mutation_p.L70I			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	70					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTATCCAGCCCTCGCATCCAA	0.463													A	6147597	C	A	6147597	3	1	364	1	0	0	0	0	1	0	0	0	174	681	24	4	214	4	ACSBG2	19	6147597	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143334	6147597	52981386	13202	36704											
ACSBG2	81616	broad.mit.edu	37	chr19	6183213	6183213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttggacatacctataggcGagttgtatgggttgagtgag	9	12	15	5	1	0	2	0	2	0	0	0	4	0	3	1	3	1	4	1	3	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6183213G>A	ENST00000588304.1	+	10	1548	c.1102G>A	c.(1102-1104)Gag>Aag	p.E368K	ACSBG2_ENST00000588485.1_Missense_Mutation_p.E231K|ACSBG2_ENST00000252669.5_Missense_Mutation_p.E418K|ACSBG2_ENST00000586696.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000591403.1_Missense_Mutation_p.E418K|ACSBG2_ENST00000591741.1_3'UTR			Q5FVE4	ACBG2_HUMAN	acyl-CoA synthetase bubblegum family member 2	418					cell differentiation|fatty acid metabolic process|multicellular organismal development|spermatogenesis	membrane|microsome|mitochondrion	acyl-CoA thioesterase activity|ATP binding|long-chain fatty acid-CoA ligase activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(3)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ACCTATAGGCGAGTTGTATGG	0.537													A	6183213	G	A	6183213	3	1	364	1	0	0	0	0	1	0	0	0	174	1059	37	1	1286	1	ACSBG2	19	6183213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35616	6183213	52945770	13203	36705											
MLLT1	4298	broad.mit.edu	37	chr19	6222532	6222532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcctccttgggcagcCggccctcgcccagcttccgc	2	9	9	21	3	1	0	0	0	1	0	5	0	3	0	7	2	2	2	7	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6222532C>T	ENST00000252674.7	-	6	873	c.710G>A	c.(709-711)cGg>cAg	p.R237Q		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	237					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CTTGGGCAGCCGGCCCTCGCC	0.642			T	MLL	AL								T	6222532	C	T	6222532	3	4	364	1	0	0	0	0	1	0	0	0	9700	652	23	1	997	1	MLLT1	19	6222532	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39319	6222532	52906451	13204	36706											
ACER1	125981	broad.mit.edu	37	chr19	6309831	6309831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtgatgaagaccaggCggatgaactgggacctgggg	10	6	18	7	1	0	4	0	3	0	1	0	6	0	6	2	6	1	0	2	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6309831C>T	ENST00000301452.4	-	4	442	c.365G>A	c.(364-366)cGc>cAc	p.R122H		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	122						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GAAGACCAGGCGGATGAACTG	0.612													T	6309831	C	T	6309831	3	4	364	1	0	0	0	0	1	0	0	0	138	768	27	1	441	1	ACER1	19	6309831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87299	6309831	52819152	13205	36707											
ACER1	125981	broad.mit.edu	37	chr19	6312450	6312450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcgggagcgcttctgggCatacgggtgcatcaggagca	8	7	17	9	3	2	0	1	0	1	0	2	2	2	2	0	4	5	5	0	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312450C>T	ENST00000301452.4	-	2	231	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	52						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CGCTTCTGGGCATACGGGTGC	0.552													T	6312450	C	T	6312450	3	4	364	1	0	0	0	0	1	0	0	0	138	710	25	2	660	2	ACER1	19	6312450	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2619	6312450	52816533	13206	36708											
ACER1	125981	broad.mit.edu	37	chr19	6312496	6312496	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtggcccgaagatgaagaaGgggatattggagaactggag	14	6	17	4	1	0	4	0	1	0	3	0	8	0	6	1	5	1	0	1	5	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6312496G>T	ENST00000301452.4	-	2	185	c.108C>A	c.(106-108)ccC>ccA	p.P36P		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	36						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						AGATGAAGAAGGGGATATTGG	0.557													T	6312496	G	T	6312496	2	4	364	1	0	0	0	0	0	0	0	1	138	987	35	4		4	ACER1	19	6312496	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46	6312496	52816487	13207	36709											
GTF2F1	2962	broad.mit.edu	37	chr19	6389587	6389587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactcactgcccgcgcccGattcgggcatctcctcctct	5	10	8	18	4	3	1	1	1	2	0	6	2	4	1	4	1	2	1	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6389587G>T	ENST00000394456.5	-	4	658	c.194C>A	c.(193-195)tCg>tAg	p.S65*	GTF2F1_ENST00000429701.2_Nonsense_Mutation_p.S37*|CTB-180A7.6_ENST00000599584.1_RNA	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	65					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						GCCCGCGCCCGATTCGGGCAT	0.622													T	6389587	G	T	6389587	4	4	364	1	0	0	0	0	0	1	0	0	6913	1059	37	4	1399	4	GTF2F1	19	6389587	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77091	6389587	52739396	13208	36710											
KHSRP	8570	broad.mit.edu	37	chr19	6420462	6420462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatgccgtctgggaccctgTactcttctgtcattgaagtc	6	13	9	13	1	4	1	1	1	3	0	5	2	4	2	3	1	2	1	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6420462T>C	ENST00000398148.3	-	5	538	c.446A>G	c.(445-447)tAc>tGc	p.Y149C		NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein	149	Gly-rich.|KH 1.				mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						TGGGACCCTGTACTCTTCTGT	0.577													C	6420462	T	C	6420462	3	2	364	1	0	0	0	0	1	0	0	0	8209	1638	57	3	1753	3	KHSRP	19	6420462	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30875	6420462	52708521	13209	36711											
SLC25A41	284427	broad.mit.edu	37	chr19	6427135	6427135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggcctgcatcctggtgcGcaccagagtcagtgggtagc	6	9	15	11	1	1	1	1	0	0	1	2	1	2	1	3	3	3	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6427135G>A	ENST00000321510.6	-	6	987	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C		NM_173637.3	NP_775908.2	Q8N5S1	S2541_HUMAN	solute carrier family 25, member 41	307					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	6						ATCCTGGTGCGCACCAGAGTC	0.632													A	6427135	G	A	6427135	3	1	364	1	0	0	0	0	1	0	0	0	14600	1087	38	1	201	1	SLC25A41	19	6427135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6673	6427135	52701848	13210	36712											
SLC25A23	79085	broad.mit.edu	37	chr19	6442163	6442163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacagctgggggccaccctcGatggaggctgggagggggcg	6	4	21	10	2	0	0	0	0	0	0	1	4	0	2	2	7	1	2	2	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6442163G>A	ENST00000301454.4	-	10	1336	c.1230C>T	c.(1228-1230)atC>atT	p.I410I	SLC25A23_ENST00000414491.2_Silent_p.I171I|SLC25A23_ENST00000601760.1_Intron	NM_024103.2	NP_077008.2	Q9BV35	SCMC3_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 23	410					transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding	p.I410I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|pancreas(1)|skin(1)	17						GGCCACCCTCGATGGAGGCTG	0.667													A	6442163	G	A	6442163	2	1	364	1	0	0	0	0	0	0	0	1	14580	1048	37	1		1	SLC25A23	19	6442163	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15028	6442163	52686820	13211	36713											
CRB3	92359	broad.mit.edu	37	chr19	6465560	6465560	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaccctccacagtacaGaccacttctgcaaatgagaa	13	8	5	15	0	2	2	1	1	1	2	3	3	3	2	4	0	2	2	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6465560G>T	ENST00000598494.1	+	3	618	c.87G>T	c.(85-87)caG>caT	p.Q29H	CRB3_ENST00000600229.1_Missense_Mutation_p.Q29H|CRB3_ENST00000308243.7_Missense_Mutation_p.Q29H|CRB3_ENST00000356762.3_Missense_Mutation_p.Q29H			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	29					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						CCACAGTACAGACCACTTCTG	0.532													T	6465560	G	T	6465560	3	4	364	1	0	0	0	0	1	0	0	0	3881	933	33	4	93	4	CRB3	19	6465560	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23397	6465560	52663423	13212	36714											
CRB3	92359	broad.mit.edu	37	chr19	6466504	6466504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccatcactgctatcatcGtggtcttctccctcttggct	6	14	7	14	1	5	0	2	0	3	0	7	0	5	0	2	2	2	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6466504G>A	ENST00000598494.1	+	4	715	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	CRB3_ENST00000600229.1_Missense_Mutation_p.V62M|CRB3_ENST00000308243.7_Missense_Mutation_p.V62M|CRB3_ENST00000356762.3_Missense_Mutation_p.V62M			Q9BUF7	CRUM3_HUMAN	crumbs homolog 3 (Drosophila)	62					protein localization in plasma membrane|tight junction assembly	apical plasma membrane|integral to membrane|tight junction	SH3 domain binding			endometrium(1)|large_intestine(1)|lung(1)	3						TGCTATCATCGTGGTCTTCTC	0.627													A	6466504	G	A	6466504	3	1	364	1	0	0	0	0	1	0	0	0	3881	1145	40	1	194	1	CRB3	19	6466504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	944	6466504	52662479	13213	36715											
DENND1C	79958	broad.mit.edu	37	chr19	6467591	6467591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttttgacagttgctggtgGgtgtagcaggggaattcagg	8	12	16	5	0	1	1	1	1	0	0	1	2	1	2	0	5	2	4	0	5	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467591G>A	ENST00000381480.2	-	23	2442	c.2330C>T	c.(2329-2331)cCc>cTc	p.P777L	DENND1C_ENST00000543576.1_Missense_Mutation_p.P733L	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	777						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						GTTGCTGGTGGGTGTAGCAGG	0.617													A	6467591	G	A	6467591	3	1	364	1	0	0	0	0	1	0	0	0	4467	1232	43	2	79	2	DENND1C	19	6467591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1087	6467591	52661392	13214	36716											
DENND1C	79958	broad.mit.edu	37	chr19	6467603	6467603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctggtgggtgtagcagggGaattcagggctcctggttcc	5	11	17	8	0	1	0	1	0	0	0	3	1	3	1	2	6	2	5	2	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6467603G>A	ENST00000381480.2	-	23	2430	c.2318C>T	c.(2317-2319)tCc>tTc	p.S773F	DENND1C_ENST00000543576.1_Missense_Mutation_p.S729F	NM_024898.2	NP_079174.2	Q8IV53	DEN1C_HUMAN	DENN/MADD domain containing 1C	773						clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(3)|large_intestine(1)|lung(3)	10						TGTAGCAGGGGAATTCAGGGC	0.617													A	6467603	G	A	6467603	3	1	364	1	0	0	0	0	1	0	0	0	4467	1174	41	2	91	2	DENND1C	19	6467603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12	6467603	52661380	13215	36717											
C3	718	broad.mit.edu	37	chr19	6686756	6686756	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctccaggccaaccctcaCctttggctgtggtcagaaat	8	9	8	16	0	2	1	2	0	0	1	3	1	3	1	6	3	1	1	6	3	2	1	rs113847049		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6686756C>T	ENST00000245907.6	-	28	3739		c.e28+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CCAACCCTCACCTTTGGCTGT	0.552													T	6686756	C	T	6686756	5	4	364	1	0	0	0	0	0	0	1	0	2225	521	18	2	1400	2	C3	19	6686756	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	219153	6686756	52442227	13216	36718											
C3	718	broad.mit.edu	37	chr19	6697416	6697416	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtagacagcagccttgActtccacttcctgcaggccg	8	9	11	13	1	0	2	0	1	0	1	2	3	2	2	4	2	3	3	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6697416A>T	ENST00000245907.6	-	21	2827	c.2735T>A	c.(2734-2736)gTc>gAc	p.V912D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	912					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCAGCCTTGACTTCCACTTC	0.557													T	6697416	A	T	6697416	3	4	364	1	0	0	0	0	1	0	0	0	2225	275	10	5	2340	5	C3	19	6697416	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	10660	6697416	52431567	13217	36719											
C3	718	broad.mit.edu	37	chr19	6714050	6714050	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgttatagatgtagtaGaatttctctgtaggctccac	9	16	8	8	1	2	2	0	0	2	2	5	2	3	2	1	1	0	5	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6714050G>T	ENST00000245907.6	-	7	818	c.726C>A	c.(724-726)ttC>ttA	p.F242L		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	242					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGATGTAGTAGAATTTCTCTG	0.612													T	6714050	G	T	6714050	3	4	364	1	0	0	0	0	1	0	0	0	2225	933	33	4	4405	4	C3	19	6714050	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16634	6714050	52414933	13218	36720											
C3	718	broad.mit.edu	37	chr19	6718263	6718263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcccccagcctcacctgtgGagccaggggtgtagatggtc	6	7	14	14	1	1	1	1	0	0	1	2	2	1	2	5	4	2	1	5	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6718263G>A	ENST00000245907.6	-	3	520	c.428C>T	c.(427-429)tCc>tTc	p.S143F		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	143					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCACCTGTGGAGCCAGGGGT	0.642													A	6718263	G	A	6718263	3	1	364	1	0	0	0	0	1	0	0	0	2225	1174	41	2	4719	2	C3	19	6718263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4213	6718263	52410720	13219	36721											
GPR108	56927	broad.mit.edu	37	chr19	6733194	6733194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attacgtgttcctgcagaggAtggacacccagaagatgcca	12	8	11	10	1	0	3	0	0	0	3	1	5	1	5	3	2	3	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6733194A>G	ENST00000264080.7	-	9	868	c.842T>C	c.(841-843)aTc>aCc	p.I281T	GPR108_ENST00000430424.4_Missense_Mutation_p.I39T	NM_001080452.1	NP_001073921.1	Q9NPR9	GP108_HUMAN	G protein-coupled receptor 108	281						integral to membrane				breast(2)|cervix(1)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						CCTGCAGAGGATGGACACCCA	0.622													G	6733194	A	G	6733194	3	3	364	1	0	0	0	0	1	0	0	0	6678	333	12	3	829	3	GPR108	19	6733194	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14931	6733194	52395789	13220	36722											
SH2D3A	10045	broad.mit.edu	37	chr19	6754118	6754118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcctgctcaaaggccagCgcagcctccgtgtggctcct	6	8	11	16	2	1	0	1	0	0	0	4	0	4	0	5	2	4	4	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6754118C>T	ENST00000245908.6	-	8	1598	c.1329G>A	c.(1327-1329)gcG>gcA	p.A443A	SH2D3A_ENST00000437152.3_Silent_p.A350A	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	443					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CAAAGGCCAGCGCAGCCTCCG	0.647													T	6754118	C	T	6754118	2	4	364	1	0	0	0	0	0	0	0	1	14326	755	27	1		1	SH2D3A	19	6754118	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20924	6754118	52374865	13221	36723											
SH2D3A	10045	broad.mit.edu	37	chr19	6760693	6760693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatccatcagggtgtcctcGctaaagctgcgtcgcagagg	8	8	12	13	3	1	1	1	0	0	1	5	1	3	1	3	2	2	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6760693G>A	ENST00000245908.6	-	3	644	c.375C>T	c.(373-375)agC>agT	p.S125S	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	125					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GGGTGTCCTCGCTAAAGCTGC	0.597													A	6760693	G	A	6760693	2	1	364	1	0	0	0	0	0	0	0	1	14326	1078	38	1		1	SH2D3A	19	6760693	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6575	6760693	52368290	13222	36724											
VAV1	7409	broad.mit.edu	37	chr19	6829843	6829843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tactcatctgtaagcgcaggGgagactcctatgacctcaag	11	9	10	11	1	3	2	2	1	1	1	4	3	4	2	2	2	2	2	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829843G>A	ENST00000304076.2	+	14	1406	c.1312G>A	c.(1312-1314)Gga>Aga	p.G438R	VAV1_ENST00000602142.1_Missense_Mutation_p.G438R|VAV1_ENST00000599806.1_Missense_Mutation_p.G383R|VAV1_ENST00000539284.1_Missense_Mutation_p.G341R|VAV1_ENST00000596764.1_Missense_Mutation_p.G406R	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	438	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						TAAGCGCAGGGGAGACTCCTA	0.527													A	6829843	G	A	6829843	3	1	364	1	0	0	0	0	1	0	0	0	17233	1233	43	2	1366	2	VAV1	19	6829843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69150	6829843	52299140	13223	36725											
VAV1	7409	broad.mit.edu	37	chr19	6829876	6829876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcaaggactttgtaaacCtgcacagcttccaggttcgg	10	10	9	12	1	1	0	1	0	0	0	3	1	2	1	3	3	3	4	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6829876C>A	ENST00000304076.2	+	14	1439	c.1345C>A	c.(1345-1347)Ctg>Atg	p.L449M	VAV1_ENST00000602142.1_Missense_Mutation_p.L449M|VAV1_ENST00000599806.1_Missense_Mutation_p.L394M|VAV1_ENST00000539284.1_Missense_Mutation_p.L352M|VAV1_ENST00000596764.1_Missense_Mutation_p.L417M	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	449	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						CTTTGTAAACCTGCACAGCTT	0.542													A	6829876	C	A	6829876	3	1	364	1	0	0	0	0	1	0	0	0	17233	680	24	4	1399	4	VAV1	19	6829876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	6829876	52299107	13224	36726											
EMR1	2015	broad.mit.edu	37	chr19	6904078	6904078	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgccaagatccatcaacCtgtggtcctaattctatctg	9	12	7	13	1	3	1	1	0	2	1	5	1	5	1	5	1	2	0	5	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6904078C>A	ENST00000312053.4	+	8	871	c.834C>A	c.(832-834)acC>acA	p.T278T	EMR1_ENST00000450315.3_Intron|EMR1_ENST00000381404.4_Silent_p.T226T|EMR1_ENST00000250572.8_Silent_p.T278T|EMR1_ENST00000381407.5_Silent_p.T137T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	278	EGF-like 6; calcium-binding (Potential).				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATCCATCAACCTGTGGTCCTA	0.473													A	6904078	C	A	6904078	2	1	364	1	0	0	0	0	0	0	0	1	5145	668	24	4		4	EMR1	19	6904078	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74202	6904078	52224905	13225	36727											
EMR1	2015	broad.mit.edu	37	chr19	6921808	6921808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcctttggctgtgtgAtcctggaagcttctgagaca	8	12	12	9	0	1	2	0	2	1	1	3	5	3	4	2	3	1	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:6921808A>G	ENST00000312053.4	+	14	1742	c.1705A>G	c.(1705-1707)Atc>Gtc	p.I569V	EMR1_ENST00000450315.3_Missense_Mutation_p.I392V|EMR1_ENST00000381404.4_Missense_Mutation_p.I517V|EMR1_ENST00000250572.8_Missense_Mutation_p.I569V|EMR1_ENST00000381407.5_Missense_Mutation_p.I428V	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	569	GPS.|Ser/Thr-rich.				cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					TGGCTGTGTGATCCTGGAAGC	0.468													G	6921808	A	G	6921808	3	3	364	1	0	0	0	0	1	0	0	0	5145	333	12	3	1759	3	EMR1	19	6921808	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	17730	6921808	52207175	13226	36728											
INSR	3643	broad.mit.edu	37	chr19	7170584	7170584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attggtcttcagggcaatgtCgtttctctcctggcgcccct	4	14	10	13	2	3	0	1	0	2	0	6	0	4	0	3	3	0	2	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7170584C>T	ENST00000341500.5	-	6	1486	c.1447G>A	c.(1447-1449)Gac>Aac	p.D483N	INSR_ENST00000302850.5_Missense_Mutation_p.D483N	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	483					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGGCAATGTCGTTTCTCTCC	0.502													T	7170584	C	T	7170584	3	4	364	1	0	0	0	0	1	0	0	0	7831	884	31	1	2769	1	INSR	19	7170584	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248776	7170584	51958399	13227	36729											
INSR	3643	broad.mit.edu	37	chr19	7267410	7267410	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaactgcccgttgatgaCggtggcggggcagttggtct	7	9	16	9	3	1	2	0	2	1	0	1	3	1	2	1	5	2	3	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267410C>T	ENST00000341500.5	-	2	637	c.598G>A	c.(598-600)Gtc>Atc	p.V200I	INSR_ENST00000302850.5_Missense_Mutation_p.V200I	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	200	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGTTGATGACGGTGGCGGGG	0.537													T	7267410	C	T	7267410	3	4	364	1	0	0	0	0	1	0	0	0	7831	536	19	1	3634	1	INSR	19	7267410	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96826	7267410	51861573	13228	36730											
INSR	3643	broad.mit.edu	37	chr19	7267515	7267515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaattatcctccacggaatCcaggatacgggaccagtcga	12	8	10	11	3	0	0	0	0	0	0	4	4	3	3	4	3	1	1	4	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7267515C>A	ENST00000341500.5	-	2	532	c.493G>T	c.(493-495)Gat>Tat	p.D165Y	INSR_ENST00000302850.5_Missense_Mutation_p.D165Y	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	165					activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCCACGGAATCCAGGATACGG	0.537													A	7267515	C	A	7267515	3	1	364	1	0	0	0	0	1	0	0	0	7831	855	30	4	3739	4	INSR	19	7267515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105	7267515	51861468	13229	36731											
ARHGEF18	23370	broad.mit.edu	37	chr19	7509119	7509119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacagaggtgcaccacgtgCggacgctcaagatcatgctg	11	6	13	11	3	2	3	2	0	0	3	2	4	2	4	1	2	3	3	1	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7509119C>T	ENST00000359920.6	+	4	1079	c.826C>T	c.(826-828)Cgg>Tgg	p.R276W	CTD-2207O23.3_ENST00000593531.1_Silent_p.C233C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.R118W	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	276	DH.				actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				GCACCACGTGCGGACGCTCAA	0.637													T	7509119	C	T	7509119	3	4	364	1	0	0	0	0	1	0	0	0	904	759	27	1	840	1	ARHGEF18	19	7509119	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	241604	7509119	51619864	13230	36732											
PEX11G	92960	broad.mit.edu	37	chr19	7550889	7550889	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agaactccaccaaccagctgGcagcagtaccccagcactcg	12	4	8	17	1	0	1	0	0	0	1	2	1	1	1	5	1	6	5	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7550889G>A	ENST00000221480.1	-	2	92	c.84C>T	c.(82-84)tgC>tgT	p.C28C	PEX11G_ENST00000593942.1_5'UTR	NM_001270539.1|NM_080662.3	NP_001257468.1|NP_542393.1	Q96HA9	PX11C_HUMAN	peroxisomal biogenesis factor 11 gamma	28						integral to membrane|peroxisomal membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	7						CAACCAGCTGGCAGCAGTACC	0.607													A	7550889	G	A	7550889	2	1	364	1	0	0	0	0	0	0	0	1	11816	1195	42	2		2	PEX11G	19	7550889	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41770	7550889	51578094	13231	36733											
MCOLN1	57192	broad.mit.edu	37	chr19	7595356	7595356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctcagcctcttcatcgCgctcatcaccggcgcctacg	5	9	10	17	5	5	0	4	0	1	0	6	0	5	0	3	2	3	2	3	2	1	2	rs151300825		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7595356C>T	ENST00000264079.6	+	12	1669	c.1544C>T	c.(1543-1545)gCg>gTg	p.A515V		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	515					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTCTTCATCGCGCTCATCACC	0.622													T	7595356	C	T	7595356	3	4	364	1	0	0	0	0	1	0	0	0	9470	768	27	1	1590	1	MCOLN1	19	7595356	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44467	7595356	51533627	13232	36734											
PNPLA6	10908	broad.mit.edu	37	chr19	7621421	7621421	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtctgcctttaaccgcaGcatccatcgggtcttccagg	6	11	11	13	2	2	0	0	0	2	0	5	0	4	0	4	3	3	2	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7621421G>T	ENST00000221249.6	+	28	3493	c.3062G>T	c.(3061-3063)aGc>aTc	p.S1021I	PNPLA6_ENST00000600737.1_Missense_Mutation_p.S1059I|PNPLA6_ENST00000414982.3_Missense_Mutation_p.S1069I|PNPLA6_ENST00000545201.2_Missense_Mutation_p.S994I|PNPLA6_ENST00000450331.3_Missense_Mutation_p.S1021I	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1060	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TTTAACCGCAGCATCCATCGG	0.617													T	7621421	G	T	7621421	3	4	364	1	0	0	0	0	1	0	0	0	12246	971	34	4	3308	4	PNPLA6	19	7621421	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26065	7621421	51507562	13233	36735											
PNPLA6	10908	broad.mit.edu	37	chr19	7622065	7622065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgcaggctccctgtggCggtacgtgcgcgccagcatg	5	6	15	15	6	0	0	0	0	0	0	1	0	1	0	3	3	3	4	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7622065C>T	ENST00000221249.6	+	30	3609	c.3178C>T	c.(3178-3180)Cgg>Tgg	p.R1060W	PNPLA6_ENST00000600737.1_Missense_Mutation_p.R1098W|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R1108W|PNPLA6_ENST00000545201.2_Missense_Mutation_p.R1033W|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R1060W	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	1099	Patatin.				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CTCCCTGTGGCGGTACGTGCG	0.667													T	7622065	C	T	7622065	3	4	364	1	0	0	0	0	1	0	0	0	12246	759	27	1	3432	1	PNPLA6	19	7622065	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	644	7622065	51506918	13234	36736											
XAB2	56949	broad.mit.edu	37	chr19	7684859	7684859	+	Missense_Mutation	SNP	C	C	T																															acaggatcttgctctgggcgCgcaagggctggtcacgctcc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684859C>T	ENST00000358368.4	-	17	2406	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	XAB2_ENST00000534844.1_Missense_Mutation_p.R787H	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	790					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						GCTCTGGGCGCGCAAGGGCTG	0.672								Direct reversal of damage;Nucleotide excision repair (NER)					T	7684859	C	T	7684859	3	4	364	1	0	0	0	0	1	0	0	0	17520	768	27	1	210	1	XAB2	19	7684859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62794	7684859	51444124	13235	36737	107	2									
XAB2	56949	broad.mit.edu	37	chr19	7684867	7684867	+	Silent	SNP	C	C	T																															ttgctctgggcgcgcaagggCtggtcacgctccgcctcagc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7684867C>T	ENST00000358368.4	-	17	2398	c.2361G>A	c.(2359-2361)caG>caA	p.Q787Q	XAB2_ENST00000534844.1_Silent_p.Q784Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	787					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						CGCGCAAGGGCTGGTCACGCT	0.672								Direct reversal of damage;Nucleotide excision repair (NER)					T	7684867	C	T	7684867	2	4	364	1	0	0	0	0	0	0	0	1	17520	796	28	2		2	XAB2	19	7684867	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	7684867	51444116	13236	36738	107	2									
XAB2	56949	broad.mit.edu	37	chr19	7685535	7685535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgcaggcacatctcacgCgcgtgctcgtccgacagcac	9	5	10	17	6	1	0	1	0	1	0	4	1	2	0	2	1	3	4	2	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7685535C>T	ENST00000358368.4	-	15	2029	c.1992G>A	c.(1990-1992)gcG>gcA	p.A664A	XAB2_ENST00000534844.1_Silent_p.A661A	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	664					transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	catalytic step 2 spliceosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACATCTCACGCGCGTGCTCGT	0.667								Direct reversal of damage;Nucleotide excision repair (NER)					T	7685535	C	T	7685535	2	4	364	1	0	0	0	0	0	0	0	1	17520	755	27	1		1	XAB2	19	7685535	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	668	7685535	51443448	13237	36739											
RETN	56729	broad.mit.edu	37	chr19	7735145	7735145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgtggctccgcctgtggCtcgtgggatgtgcgcgccga	3	10	16	12	5	0	0	0	0	0	0	2	2	1	1	3	3	1	2	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7735145C>T	ENST00000221515.2	+	4	325	c.237C>T	c.(235-237)ggC>ggT	p.G79G	RETN_ENST00000381324.2_Silent_p.G53G	NM_001193374.1|NM_020415.3	NP_001180303.1|NP_065148.1	Q9HD89	RETN_HUMAN	resistin	79							hormone activity			ovary(1)	1						CCGCCTGTGGCTCGTGGGATG	0.697													T	7735145	C	T	7735145	2	4	364	1	0	0	0	0	0	0	0	1	13324	784	28	2		2	RETN	19	7735145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49610	7735145	51393838	13238	36740											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747355	7747355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgcgctggtggcgcgCgaaaagggtgcccggcgtga	6	6	19	10	6	0	1	0	1	0	0	0	3	0	2	1	5	2	1	1	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747355C>T	ENST00000597959.1	+	3	392	c.392C>T	c.(391-393)gCg>gTg	p.A131V	TRAPPC5_ENST00000596148.1_Silent_p.R72R|TRAPPC5_ENST00000595985.1_Intron|TRAPPC5_ENST00000426877.2_Silent_p.R72R|TRAPPC5_ENST00000317378.5_Silent_p.R72R																							TGGTGGCGCGCGAAAAGGGTG	0.711													T	7747355	C	T	7747355	3	4	364	1	0	0	0	0	1	0	0	0	16563	755	27	1	218	1	TRAPPC5	19	7747355	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12210	7747355	51381628	13239	36741											
TRAPPC5	126003	broad.mit.edu	37	chr19	7747556	7747556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaacagcacgctcaactgCgccagcttcacggcgggcat	10	5	12	14	4	2	1	2	0	0	1	2	2	2	1	1	2	5	4	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7747556C>T	ENST00000317378.5	+	2	604	c.417C>T	c.(415-417)tgC>tgT	p.C139C	CTD-3214H19.16_ENST00000597959.1_3'UTR|TRAPPC5_ENST00000596148.1_Silent_p.C139C|TRAPPC5_ENST00000595985.1_Silent_p.C72C|TRAPPC5_ENST00000426877.2_Silent_p.C139C	NM_174894.2	NP_777554.1	Q8IUR0	TPPC5_HUMAN	trafficking protein particle complex 5	139					vesicle-mediated transport	endoplasmic reticulum	guanylate cyclase activity|heme binding			NS(1)|lung(2)	3						CGCTCAACTGCGCCAGCTTCA	0.627													T	7747556	C	T	7747556	2	4	364	1	0	0	0	0	0	0	0	1	16563	776	27	1		1	TRAPPC5	19	7747556	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	201	7747556	51381427	13240	36742											
CLEC4G	339390	broad.mit.edu	37	chr19	7794735	7794735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagactccgtccacccActggtagccctgaaccttgc	9	7	10	15	1	0	3	0	1	0	2	2	5	2	3	5	1	3	1	5	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7794735A>G	ENST00000328853.5	-	8	783	c.715T>C	c.(715-717)Tgg>Cgg	p.W239R		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	239	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCGTCCACCCACTGGTAGCCC	0.607													G	7794735	A	G	7794735	3	3	364	1	0	0	0	0	1	0	0	0	3548	159	6	3	174	3	CLEC4G	19	7794735	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47179	7794735	51334248	13241	36743											
CD209	30835	broad.mit.edu	37	chr19	7809028	7809028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgtccacccattgccaCgtgccttcctgatttagatc	7	11	8	15	2	0	2	0	1	0	1	3	3	2	2	6	0	3	0	6	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7809028C>T	ENST00000315599.7	-	6	1000	c.978G>A	c.(976-978)acG>acA	p.T326T	CD209_ENST00000394173.4_Silent_p.T165T|CD209_ENST00000301357.8_Silent_p.T190T|CD209_ENST00000204801.8_Silent_p.T282T|CD209_ENST00000394161.5_Silent_p.T90T|CD209_ENST00000593821.1_Silent_p.T190T|CD209_ENST00000602261.1_Silent_p.T234T|CD209_ENST00000593660.1_Silent_p.T256T|CD209_ENST00000601951.1_Silent_p.T302T|CD209_ENST00000354397.6_Silent_p.T320T|CD209_ENST00000601256.1_Intron|CD209_ENST00000315591.8_Silent_p.T302T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	326	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCATTGCCACGTGCCTTCCT	0.522													T	7809028	C	T	7809028	2	4	364	1	0	0	0	0	0	0	0	1	3014	523	19	1		1	CD209	19	7809028	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14293	7809028	51319955	13242	36744											
LRRC8E	80131	broad.mit.edu	37	chr19	7965224	7965224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtgttcagcctgggtgCgctgcaggaacttgacctca	7	10	13	11	1	2	1	2	1	0	0	2	2	2	2	2	2	5	4	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:7965224C>T	ENST00000539278.1	-	1	3203	c.43G>A	c.(43-45)Gca>Aca	p.A15T	LRRC8E_ENST00000306708.6_Missense_Mutation_p.A606V																							AGCCTGGGTGCGCTGCAGGAA	0.632													T	7965224	C	T	7965224	3	4	364	1	0	0	0	0	1	0	0	0	9095	768	27	1	1823	1	LRRC8E	19	7965224	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156196	7965224	51163759	13243	36745											
ELAVL1	1994	broad.mit.edu	37	chr19	8032574	8032574	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaacttcactgtgatgggCtcagaggaacctgggggttt	9	10	14	8	0	2	2	2	1	0	1	2	3	2	3	1	4	2	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8032574C>T	ENST00000407627.2	-	5	660	c.531G>A	c.(529-531)gaG>gaA	p.E177E	ELAVL1_ENST00000351593.5_Silent_p.E204E|ELAVL1_ENST00000593807.1_Intron|ELAVL1_ENST00000596459.1_Silent_p.E177E	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	177	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						CTGTGATGGGCTCAGAGGAAC	0.557													T	8032574	C	T	8032574	2	4	364	1	0	0	0	0	0	0	0	1	5090	796	28	2		2	ELAVL1	19	8032574	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67350	8032574	51096409	13244	36746											
FBN3	84467	broad.mit.edu	37	chr19	8139980	8139980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgggcccactgggagtgCtgggtgaaaccctgggggca	7	6	17	11	0	0	1	0	1	0	0	0	2	0	2	2	5	2	2	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8139980C>T	ENST00000600128.1	-	61	8091	c.7677G>A	c.(7675-7677)caG>caA	p.Q2559Q	FBN3_ENST00000601739.1_Silent_p.Q2559Q|FBN3_ENST00000270509.2_Silent_p.Q2559Q			Q75N90	FBN3_HUMAN	fibrillin 3	2559	EGF-like 42; 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						ACTGGGAGTGCTGGGTGAAAC	0.612													T	8139980	C	T	8139980	2	4	364	1	0	0	0	0	0	0	0	1	5753	796	28	2		2	FBN3	19	8139980	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107406	8139980	50989003	13245	36747											
FBN3	84467	broad.mit.edu	37	chr19	8151120	8151120	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtggggctgggctggaatcCctcatcacagtcgcaccgga	7	7	15	12	2	2	0	2	0	0	0	4	2	3	2	2	6	0	3	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8151120C>A	ENST00000600128.1	-	55	7258	c.6844G>T	c.(6844-6846)Gga>Tga	p.G2282*	FBN3_ENST00000601739.1_Nonsense_Mutation_p.G2282*|FBN3_ENST00000270509.2_Nonsense_Mutation_p.G2282*			Q75N90	FBN3_HUMAN	fibrillin 3	2282	EGF-like 37; 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						GGCTGGAATCCCTCATCACAG	0.612													A	8151120	C	A	8151120	4	1	364	1	0	0	0	0	0	1	0	0	5753	632	22	4	1625	4	FBN3	19	8151120	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11140	8151120	50977863	13246	36748											
FBN3	84467	broad.mit.edu	37	chr19	8152081	8152081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtcctgctgaccatctgCacactcgtccacatcttcgg	7	10	8	16	2	2	1	0	1	2	0	6	1	4	1	3	1	2	3	3	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8152081C>T	ENST00000600128.1	-	54	7048	c.6634G>A	c.(6634-6636)Gca>Aca	p.A2212T	FBN3_ENST00000601739.1_Missense_Mutation_p.A2212T|FBN3_ENST00000270509.2_Missense_Mutation_p.A2212T			Q75N90	FBN3_HUMAN	fibrillin 3	2212	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						TGACCATCTGCACACTCGTCC	0.632													T	8152081	C	T	8152081	3	4	364	1	0	0	0	0	1	0	0	0	5753	710	25	2	1839	2	FBN3	19	8152081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	961	8152081	50976902	13247	36749											
FBN3	84467	broad.mit.edu	37	chr19	8159439	8159439	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctgcaaggctgaggcaCtcattggtgtctgtgaaaag	9	11	13	8	0	2	2	1	2	1	0	3	2	3	2	1	3	1	4	1	3	3	2	rs147423270	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8159439C>T	ENST00000600128.1	-	47	6210	c.5796G>A	c.(5794-5796)gaG>gaA	p.E1932E	FBN3_ENST00000601739.1_Silent_p.E1932E|FBN3_ENST00000270509.2_Silent_p.E1932E			Q75N90	FBN3_HUMAN	fibrillin 3	1932	EGF-like 31; 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						GGCTGAGGCACTCATTGGTGT	0.592													T	8159439	C	T	8159439	2	4	364	1	0	0	0	0	0	0	0	1	5753	564	20	2		2	FBN3	19	8159439	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7358	8159439	50969544	13248	36750											
FBN3	84467	broad.mit.edu	37	chr19	8161815	8161815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctcgggtgcacttgcagCggtagctaccggggatgttg	6	9	15	11	3	0	0	0	0	0	0	1	1	0	1	2	4	5	5	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8161815C>T	ENST00000600128.1	-	43	5777	c.5363G>A	c.(5362-5364)cGc>cAc	p.R1788H	FBN3_ENST00000601739.1_Missense_Mutation_p.R1788H|FBN3_ENST00000270509.2_Missense_Mutation_p.R1788H			Q75N90	FBN3_HUMAN	fibrillin 3	1788	EGF-like 27; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent	p.R1788L(1)		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						GCACTTGCAGCGGTAGCTACC	0.597													T	8161815	C	T	8161815	3	4	364	1	0	0	0	0	1	0	0	0	5753	768	27	1	3154	1	FBN3	19	8161815	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2376	8161815	50967168	13249	36751											
FBN3	84467	broad.mit.edu	37	chr19	8174224	8174224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcactgcaggaaatgccaCtgtcccctcggtcatgcgtc	7	8	11	15	3	1	0	1	0	0	0	4	1	2	1	3	3	3	2	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8174224C>T	ENST00000600128.1	-	36	4919	c.4505G>A	c.(4504-4506)aGt>aAt	p.S1502N	FBN3_ENST00000601739.1_Missense_Mutation_p.S1502N|FBN3_ENST00000270509.2_Missense_Mutation_p.S1502N			Q75N90	FBN3_HUMAN	fibrillin 3	1502	TB 6.					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						GGAAATGCCACTGTCCCCTCG	0.597													T	8174224	C	T	8174224	3	4	364	1	0	0	0	0	1	0	0	0	5753	565	20	2	4040	2	FBN3	19	8174224	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12409	8174224	50954759	13250	36752											
FBN3	84467	broad.mit.edu	37	chr19	8190852	8190852	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagacccagcagtgttgacGcaacgcccgttgggacagac	12	5	12	12	3	0	3	0	1	0	2	0	4	0	4	2	1	2	4	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8190852G>A	ENST00000600128.1	-	22	3069	c.2655C>T	c.(2653-2655)tgC>tgT	p.C885C	FBN3_ENST00000601739.1_Silent_p.C885C|FBN3_ENST00000270509.2_Silent_p.C885C			Q75N90	FBN3_HUMAN	fibrillin 3	885	EGF-like 11; 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						CAGTGTTGACGCAACGCCCGT	0.637													A	8190852	G	A	8190852	2	1	364	1	0	0	0	0	0	0	0	1	5753	1079	38	1		1	FBN3	19	8190852	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16628	8190852	50938131	13251	36753											
FBN3	84467	broad.mit.edu	37	chr19	8191363	8191363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatactaccgatctcgcagCgttcgcaggggctcccccag	7	7	12	15	4	1	0	0	0	1	0	4	2	2	1	3	3	3	4	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191363C>T	ENST00000600128.1	-	20	2957	c.2543G>A	c.(2542-2544)cGc>cAc	p.R848H	FBN3_ENST00000601739.1_Missense_Mutation_p.R848H|FBN3_ENST00000270509.2_Missense_Mutation_p.R848H			Q75N90	FBN3_HUMAN	fibrillin 3	848	TB 4.					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						GATCTCGCAGCGTTCGCAGGG	0.647													T	8191363	C	T	8191363	3	4	364	1	0	0	0	0	1	0	0	0	5753	768	27	1	6066	1	FBN3	19	8191363	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	511	8191363	50937620	13252	36754											
FBN3	84467	broad.mit.edu	37	chr19	8191660	8191660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgcaggtgtaggagcCggccaggttccgacagacgc	9	7	14	11	3	0	1	0	0	0	1	1	3	1	2	3	4	2	3	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8191660C>T	ENST00000600128.1	-	19	2767	c.2353G>A	c.(2353-2355)Ggc>Agc	p.G785S	FBN3_ENST00000601739.1_Missense_Mutation_p.G785S|FBN3_ENST00000270509.2_Missense_Mutation_p.G785S			Q75N90	FBN3_HUMAN	fibrillin 3	785	EGF-like 10; 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						GTGTAGGAGCCGGCCAGGTTC	0.662													T	8191660	C	T	8191660	3	4	364	1	0	0	0	0	1	0	0	0	5753	652	23	1	6260	1	FBN3	19	8191660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	297	8191660	50937323	13253	36755											
FBN3	84467	broad.mit.edu	37	chr19	8201322	8201322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccacgttacactcgcagCggtagctggaaggcgtgggc	8	6	15	12	4	0	0	0	0	0	0	1	1	0	1	1	4	4	4	1	4	3	2	rs142403623		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8201322C>T	ENST00000600128.1	-	11	1709	c.1295G>A	c.(1294-1296)cGc>cAc	p.R432H	FBN3_ENST00000601739.1_Missense_Mutation_p.R432H|FBN3_ENST00000270509.2_Missense_Mutation_p.R432H			Q75N90	FBN3_HUMAN	fibrillin 3	432	EGF-like 3.					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						ACACTCGCAGCGGTAGCTGGA	0.642													T	8201322	C	T	8201322	3	4	364	1	0	0	0	0	1	0	0	0	5753	768	27	1	7350	1	FBN3	19	8201322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9662	8201322	50927661	13254	36756											
FBN3	84467	broad.mit.edu	37	chr19	8211083	8211083	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgggctgggagcagaagcCttcaccgcaggcgcgcctac	7	6	15	13	3	1	1	1	0	0	1	1	2	1	2	3	3	3	4	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8211083C>A	ENST00000600128.1	-	4	691	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C	FBN3_ENST00000601739.1_Missense_Mutation_p.G93C|FBN3_ENST00000270509.2_Missense_Mutation_p.G93C			Q75N90	FBN3_HUMAN	fibrillin 3	93						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						GAGCAGAAGCCTTCACCGCAG	0.687													A	8211083	C	A	8211083	3	1	364	1	0	0	0	0	1	0	0	0	5753	681	24	4	8396	4	FBN3	19	8211083	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9761	8211083	50917900	13255	36757											
NDUFA7	4701	broad.mit.edu	37	chr19	8376449	8376449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggaggagctggagtcacCgccttcttctcagtggcagc	7	9	14	11	1	3	0	2	0	2	0	4	3	3	3	2	4	2	2	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8376449C>T	ENST00000301457.2	-	4	319	c.282G>A	c.(280-282)gcG>gcA	p.A94A	NDUFA7_ENST00000598884.1_Silent_p.A94A	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	94					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity	p.A94A(1)		NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	CTGGAGTCACCGCCTTCTTCT	0.572													T	8376449	C	T	8376449	2	4	364	1	0	0	0	0	0	0	0	1	10346	639	23	1		1	NDUFA7	19	8376449	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	165366	8376449	50752534	13256	36758											
ANGPTL4	51129	broad.mit.edu	37	chr19	8430878	8430878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggatccagcaactctTccacaaggtggcccagcagc	11	5	10	15	0	1	0	0	0	1	0	3	1	3	1	3	3	5	3	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8430878T>C	ENST00000301455.2	+	2	530	c.359T>C	c.(358-360)tTc>tCc	p.F120S	ANGPTL4_ENST00000541807.1_5'UTR|ANGPTL4_ENST00000393962.2_Missense_Mutation_p.F120S	NM_139314.1	NP_647475.1	Q9BY76	ANGL4_HUMAN	angiopoietin-like 4	120					angiogenesis|cell differentiation|cellular lipid metabolic process|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|positive regulation of angiogenesis|response to hypoxia|signal transduction|triglyceride homeostasis	extracellular space|proteinaceous extracellular matrix	enzyme inhibitor activity|receptor binding			large_intestine(1)|lung(1)|ovary(2)|skin(2)	6						CAGCAACTCTTCCACAAGGTG	0.552													C	8430878	T	C	8430878	3	2	364	1	0	0	0	0	1	0	0	0	616	1783	62	3	365	3	ANGPTL4	19	8430878	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	54429	8430878	50698105	13257	36759											
MARCH2	51257	broad.mit.edu	37	chr19	8486897	8486897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccgtgccttggacacacCgaggtgagtggtgactgcgt	7	9	14	11	3	0	2	0	2	0	0	1	4	1	3	3	3	2	0	3	3	0	1	rs138648064		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8486897C>T	ENST00000602117.1	+	2	628	c.173C>T	c.(172-174)cCg>cTg	p.P58L	MARCH2_ENST00000601283.1_Intron|MARCH2_ENST00000381035.4_Missense_Mutation_p.P58L|MARCH2_ENST00000393944.1_Missense_Mutation_p.P58L|MARCH2_ENST00000215555.2_Missense_Mutation_p.P58L			Q9P0N8	MARH2_HUMAN	membrane-associated ring finger (C3HC4) 2, E3 ubiquitin protein ligase	58					endocytosis	cytoplasmic vesicle|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(3)|skin(1)|urinary_tract(1)	10						TTGGACACACCGAGGTGAGTG	0.607													T	8486897	C	T	8486897	3	4	364	1	0	0	0	0	1	0	0	0	9376	652	23	1	175	1	MARCH2	19	8486897	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56019	8486897	50642086	13258	36760											
HNRNPM	4670	broad.mit.edu	37	chr19	8528381	8528381	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtctctggcttcctccaaagGgatgtgcgtaagtatcgtct	7	13	11	10	2	2	0	0	0	2	0	6	1	4	1	2	2	1	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8528381G>A	ENST00000348943.3	+	4	569	c.337G>A	c.(337-339)Gga>Aga	p.G113R	HNRNPM_ENST00000325495.4_Splice_Site_p.G113R	NM_031203.3	NP_112480.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M	113	RRM 1.				alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|integral to plasma membrane|nuclear matrix|nucleolus|paraspeckles	nucleotide binding|protein domain specific binding|RNA binding			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TCCTCCAAAGGGATGTGCGTA	0.368													A	8528381	G	A	8528381	5	1	364	1	0	0	0	0	0	0	1	0	7326	1246	43	2	351	2	HNRNPM	19	8528381	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41484	8528381	50600602	13259	36761											
PRAM1	84106	broad.mit.edu	37	chr19	8563370	8563370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggggcagaggcctcCgccggggtggatggctgggt	4	6	22	9	2	0	1	0	0	0	1	1	2	1	2	3	9	0	3	3	9	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563370C>T	ENST00000423345.4	-	2	1842	c.1322G>A	c.(1321-1323)cGg>cAg	p.R441Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.R441Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	489	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CAGAGGCCTCCGCCGGGGTGG	0.711													T	8563370	C	T	8563370	3	4	364	1	0	0	0	0	1	0	0	0	12505	652	23	1	723	1	PRAM1	19	8563370	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34989	8563370	50565613	13260	36762											
PRAM1	84106	broad.mit.edu	37	chr19	8563583	8563583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgaagaactcaggctgcGggtgtctcttgaggacagcg	9	7	14	11	3	2	2	1	1	1	1	3	4	2	3	1	3	3	1	1	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8563583G>T	ENST00000423345.4	-	2	1629	c.1109C>A	c.(1108-1110)cCg>cAg	p.P370Q	PRAM1_ENST00000255612.3_Missense_Mutation_p.P370Q			Q96QH2	PRAM_HUMAN	PML-RARA regulated adaptor molecule 1	418	Pro-rich.						lipid binding|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)	19						CTCAGGCTGCGGGTGTCTCTT	0.667													T	8563583	G	T	8563583	3	4	364	1	0	0	0	0	1	0	0	0	12505	1116	39	4	936	4	PRAM1	19	8563583	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	213	8563583	50565400	13261	36763											
MYO1F	4542	broad.mit.edu	37	chr19	8601203	8601203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgggctccatgttgaccGcccgaagcaggtgctggacg	6	7	16	12	4	0	1	0	1	0	0	2	3	1	2	3	4	2	4	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8601203G>A	ENST00000338257.8	-	19	2243	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	659	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CATGTTGACCGCCCGAAGCAG	0.637													A	8601203	G	A	8601203	3	1	364	1	0	0	0	0	1	0	0	0	10149	1087	38	1	1360	1	MYO1F	19	8601203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37620	8601203	50527780	13262	36764											
MYO1F	4542	broad.mit.edu	37	chr19	8606809	8606809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctcactggtctgcatcaGctctatgaggtcggagaaga	9	10	12	10	1	4	3	2	1	2	2	5	4	4	3	0	3	3	3	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8606809G>T	ENST00000338257.8	-	15	1858	c.1591C>A	c.(1591-1593)Ctg>Atg	p.L531M		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	531	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCTGCATCAGCTCTATGAGG	0.617													T	8606809	G	T	8606809	3	4	364	1	0	0	0	0	1	0	0	0	10149	962	34	4	1761	4	MYO1F	19	8606809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5606	8606809	50522174	13263	36765											
MYO1F	4542	broad.mit.edu	37	chr19	8619587	8619587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggtgaagtagggcatctgcTtgaaggggtttacagagatg	10	10	16	5	1	1	3	0	2	1	1	1	4	1	3	0	4	2	4	0	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8619587T>C	ENST00000338257.8	-	3	449	c.182A>G	c.(181-183)aAg>aGg	p.K61R		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	61	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GGGCATCTGCTTGAAGGGGTT	0.607													C	8619587	T	C	8619587	3	2	364	1	0	0	0	0	1	0	0	0	10149	1609	56	3	3218	3	MYO1F	19	8619587	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12778	8619587	50509396	13264	36766											
ADAMTS10	81794	broad.mit.edu	37	chr19	8651767	8651767	+	Silent	SNP	G	G	A																															gagcctttgggaatccagacGacatcctcgtaccctgaaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651767G>A	ENST00000270328.4	-	18	2438	c.2172C>T	c.(2170-2172)gtC>gtT	p.V724V	ADAMTS10_ENST00000595838.1_Silent_p.V211V|ADAMTS10_ENST00000597188.1_Silent_p.V724V			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	724	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GAATCCAGACGACATCCTCGT	0.572											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	8651767	G	A	8651767	2	1	364	1	0	0	0	0	0	0	0	1	256	1045	37	1		1	ADAMTS10	19	8651767	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32180	8651767	50477216	13265	36767	108	2									
ADAMTS10	81794	broad.mit.edu	37	chr19	8651776	8651776	+	Silent	SNP	G	G	A																															ggaatccagacgacatcctcGtaccctgaacagcagagctc																								rs141517207	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8651776G>A	ENST00000270328.4	-	18	2429	c.2163C>T	c.(2161-2163)taC>taT	p.Y721Y	ADAMTS10_ENST00000595838.1_Silent_p.Y208Y|ADAMTS10_ENST00000597188.1_Silent_p.Y721Y			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	721	Spacer.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGACATCCTCGTACCCTGAAC	0.557											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	8651776	G	A	8651776	2	1	364	1	0	0	0	0	0	0	0	1	256	1140	40	1		1	ADAMTS10	19	8651776	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	8651776	50477207	13266	36768	108	2									
ADAMTS10	81794	broad.mit.edu	37	chr19	8666003	8666003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaaggtccgcagccaccAtggccgccctttccacggtt	6	9	9	17	3	1	0	1	0	0	0	3	0	3	0	6	3	1	2	6	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8666003A>G	ENST00000270328.4	-	5	885	c.619T>C	c.(619-621)Tgg>Cgg	p.W207R	ADAMTS10_ENST00000597188.1_Missense_Mutation_p.W207R|ADAMTS10_ENST00000596709.1_5'UTR			Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	207					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						CGCAGCCACCATGGCCGCCCT	0.627													G	8666003	A	G	8666003	3	3	364	1	0	0	0	0	1	0	0	0	256	217	8	3	2776	3	ADAMTS10	19	8666003	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14227	8666003	50462980	13267	36769											
ZNF558	148156	broad.mit.edu	37	chr19	8922631	8922631	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattgactacagtcataggGtttttctccagtatgaattc	11	15	7	8	0	2	2	1	2	1	0	4	2	2	2	1	1	1	2	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8922631G>T	ENST00000601372.1	-	10	1246	c.535C>A	c.(535-537)Ccc>Acc	p.P179T	ZNF558_ENST00000444186.2_Missense_Mutation_p.P108T|ZNF558_ENST00000301475.1_Missense_Mutation_p.P179T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						CAGTCATAGGGTTTTTCTCCA	0.383													T	8922631	G	T	8922631	3	4	364	1	0	0	0	0	1	0	0	0	18090	1261	44	4	677	4	ZNF558	19	8922631	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	256628	8922631	50206352	13268	36770											
ZNF558	148156	broad.mit.edu	37	chr19	8933396	8933396	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctcctttatcccgcaGcgctctggaagaaacgggaa	9	8	10	14	4	1	1	0	0	1	1	4	3	4	3	3	2	2	3	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:8933396G>T	ENST00000601372.1	-	0	651				ZNF558_ENST00000599938.1_5'UTR|CTD-2529P6.3_ENST00000594006.1_RNA|ZNF558_ENST00000301475.1_De_novo_Start_OutOfFrame			Q96NG5	ZN558_HUMAN	zinc finger protein 558						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TTATCCCGCAGCGCTCTGGAA	0.627													T	8933396	G	T	8933396	1	4	364	1	0	0	0	0	0	0	0	0	18090	986	34	4		4	ZNF558	19	8933396	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10765	8933396	50195587	13269	36771											
MUC16	94025	broad.mit.edu	37	chr19	9016986	9016986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttgaatactcactgctgCtggtgggcacagggatccaa	10	9	13	9	0	1	1	1	1	0	0	2	3	2	2	1	3	3	4	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9016986C>A	ENST00000397910.4	-	27	38212	c.38009G>T	c.(38008-38010)aGc>aTc	p.S12670I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12672					cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S12670N(1)		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						CTCACTGCTGCTGGTGGGCAC	0.532													A	9016986	C	A	9016986	3	1	364	1	0	0	0	0	1	0	0	0	10049	797	28	4	5746	4	MUC16	19	9016986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83590	9016986	50111997	13270	36772											
MUC16	94025	broad.mit.edu	37	chr19	9021062	9021062	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggctctcaccagaccctGcaggaccctctctgtggtgt	5	10	12	14	0	2	1	1	0	2	1	4	2	2	2	3	4	1	2	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9021062G>A	ENST00000397910.4	-	19	37464	c.37261C>T	c.(37261-37263)Cag>Tag	p.Q12421*		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12423	SEA 3.				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						ACCAGACCCTGCAGGACCCTC	0.547													A	9021062	G	A	9021062	4	1	364	1	0	0	0	0	0	1	0	0	10049	1328	46	2	6526	2	MUC16	19	9021062	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4076	9021062	50107921	13271	36773											
MUC16	94025	broad.mit.edu	37	chr19	9024862	9024862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttcctgtccagggtgtaggGgcccagctcttcaatgtcat	6	12	12	11	0	3	0	2	0	1	0	5	0	5	0	3	3	1	3	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9024862G>A	ENST00000397910.4	-	16	37203	c.37000C>T	c.(37000-37002)Ccc>Tcc	p.P12334S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12336	SEA 2.				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						AGGGTGTAGGGGCCCAGCTCT	0.532													A	9024862	G	A	9024862	3	1	364	1	0	0	0	0	1	0	0	0	10049	1232	43	2	6799	2	MUC16	19	9024862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3800	9024862	50104121	13272	36774											
MUC16	94025	broad.mit.edu	37	chr19	9045923	9045923	+	Missense_Mutation	SNP	G	G	T																															cagttgttatagaggcactgGaaagcccagagacagcaggg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045923G>T	ENST00000397910.4	-	5	35911	c.35708C>A	c.(35707-35709)tCc>tAc	p.S11903Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11905	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						AGAGGCACTGGAAAGCCCAGA	0.502													T	9045923	G	T	9045923	3	4	364	1	0	0	0	0	1	0	0	0	10049	1174	41	4	8135	4	MUC16	19	9045923	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21061	9045923	50083060	13273	36775	109	2									
MUC16	94025	broad.mit.edu	37	chr19	9045932	9045932	+	Missense_Mutation	SNP	G	G	T																															tagaggcactggaaagcccaGagacagcaggggaaacagtc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9045932G>T	ENST00000397910.4	-	5	35902	c.35699C>A	c.(35698-35700)tCt>tAt	p.S11900Y		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11902	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S11900F(1)|p.S7533F(1)		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						GGAAAGCCCAGAGACAGCAGG	0.502													T	9045932	G	T	9045932	3	4	364	1	0	0	0	0	1	0	0	0	10049	942	33	4	8144	4	MUC16	19	9045932	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9	9045932	50083051	13274	36776	109	2									
MUC16	94025	broad.mit.edu	37	chr19	9049446	9049446	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctgcaccaggtgagaCagtcataattggaatagctg	12	11	10	8	0	3	1	1	1	2	1	3	3	3	2	1	2	2	2	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9049446C>A	ENST00000397910.4	-	5	32388	c.32185G>T	c.(32185-32187)Gtc>Ttc	p.V10729F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10731	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						CCAGGTGAGACAGTCATAATT	0.458													A	9049446	C	A	9049446	3	1	364	1	0	0	0	0	1	0	0	0	10049	478	17	4	11658	4	MUC16	19	9049446	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3514	9049446	50079537	13275	36777											
MUC16	94025	broad.mit.edu	37	chr19	9057153	9057153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactgccatgcttgaagaaGgatgaattttctctgtatct	10	15	8	8	0	3	3	1	2	2	1	4	4	3	4	1	1	2	2	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9057153G>A	ENST00000397910.4	-	3	30496	c.30293C>T	c.(30292-30294)cCt>cTt	p.P10098L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10100	Ser-rich.|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						GCTTGAAGAAGGATGAATTTT	0.463													A	9057153	G	A	9057153	3	1	364	1	0	0	0	0	1	0	0	0	10049	1000	35	2	13558	2	MUC16	19	9057153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7707	9057153	50071830	13276	36778											
MUC16	94025	broad.mit.edu	37	chr19	9058224	9058224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtaatgtggaggacacaGgagaaagtgaggtcgtgaga	14	7	16	4	1	0	3	0	2	0	2	1	7	0	5	0	4	0	1	0	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9058224G>T	ENST00000397910.4	-	3	29425	c.29222C>A	c.(29221-29223)cCt>cAt	p.P9741H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9743	Ser-rich.|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						GGAGGACACAGGAGAAAGTGA	0.498													T	9058224	G	T	9058224	3	4	364	1	0	0	0	0	1	0	0	0	10049	1000	35	4	14629	4	MUC16	19	9058224	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1071	9058224	50070759	13277	36779											
MUC16	94025	broad.mit.edu	37	chr19	9066603	9066603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcagtccaggagtcaagGaatatgttgactctctctta	10	13	8	10	0	4	1	2	1	3	0	7	3	5	3	1	2	0	1	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066603G>A	ENST00000397910.4	-	3	21046	c.20843C>T	c.(20842-20844)tCc>tTc	p.S6948F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6950	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.S6948F(2)|p.S2581F(1)		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						AGGAGTCAAGGAATATGTTGA	0.448													A	9066603	G	A	9066603	3	1	364	1	0	0	0	0	1	0	0	0	10049	1174	41	2	23008	2	MUC16	19	9066603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8379	9066603	50062380	13278	36780											
MUC16	94025	broad.mit.edu	37	chr19	9066667	9066667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacattgatgtggaaacagTtgtatgccccatggtggagg	11	10	14	6	0	0	2	0	1	0	1	0	4	0	4	2	4	2	2	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9066667T>C	ENST00000397910.4	-	3	20982	c.20779A>G	c.(20779-20781)Act>Gct	p.T6927A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6929	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						GTGGAAACAGTTGTATGCCCC	0.468													C	9066667	T	C	9066667	3	2	364	1	0	0	0	0	1	0	0	0	10049	1725	60	3	23072	3	MUC16	19	9066667	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	64	9066667	50062316	13279	36781											
MUC16	94025	broad.mit.edu	37	chr19	9067202	9067202	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccaaggtaaatgtgccCtgtgatgtagagccaagagg	11	9	14	7	0	0	3	0	1	0	2	1	3	1	3	3	2	2	2	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9067202C>A	ENST00000397910.4	-	3	20447	c.20244G>T	c.(20242-20244)caG>caT	p.Q6748H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6750	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						TAAATGTGCCCTGTGATGTAG	0.493													A	9067202	C	A	9067202	3	1	364	1	0	0	0	0	1	0	0	0	10049	680	24	4	23607	4	MUC16	19	9067202	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	535	9067202	50061781	13280	36782											
MUC16	94025	broad.mit.edu	37	chr19	9072095	9072095	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgtgtttatagaaggaaaAatttcctttgtgtctttact	10	19	7	5	0	2	1	0	0	2	1	3	2	3	2	1	1	1	1	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9072095A>C	ENST00000397910.4	-	3	15554	c.15351T>G	c.(15349-15351)atT>atG	p.I5117M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5119	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						TAGAAGGAAAAATTTCCTTTG	0.453													C	9072095	A	C	9072095	3	2	364	1	0	0	0	0	1	0	0	0	10049	10	1	5	28500	5	MUC16	19	9072095	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4893	9072095	50056888	13281	36783											
MUC16	94025	broad.mit.edu	37	chr19	9074008	9074008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaactgaagtcgcagaaaCaggagaggatgtatgttgcc	15	7	13	6	1	0	4	0	1	0	3	1	6	0	5	1	2	3	3	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9074008C>T	ENST00000397910.4	-	3	13641	c.13438G>A	c.(13438-13440)Gtt>Att	p.V4480I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4482	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						GTCGCAGAAACAGGAGAGGAT	0.468													T	9074008	C	T	9074008	3	4	364	1	0	0	0	0	1	0	0	0	10049	478	17	2	30413	2	MUC16	19	9074008	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1913	9074008	50054975	13282	36784											
MUC16	94025	broad.mit.edu	37	chr19	9086021	9086021	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggcaatgttaagcttaTggccctgtttccaggagtgg	11	11	12	7	0	0	0	0	0	0	0	1	1	1	1	2	4	1	4	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086021T>C	ENST00000397910.4	-	1	5997	c.5794A>G	c.(5794-5796)Ata>Gta	p.I1932V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1932	Ser-rich.|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						GTTAAGCTTATGGCCCTGTTT	0.483													C	9086021	T	C	9086021	3	2	364	1	0	0	0	0	1	0	0	0	10049	1464	51	3	38065	3	MUC16	19	9086021	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12013	9086021	50042962	13283	36785											
MUC16	94025	broad.mit.edu	37	chr19	9086385	9086385	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatagaggcagttctgagTttttcttttcctgtattttc	6	20	7	8	0	2	2	0	1	2	1	5	2	4	2	2	1	0	4	2	1	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9086385T>C	ENST00000397910.4	-	1	5633	c.5430A>G	c.(5428-5430)aaA>aaG	p.K1810K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1810	Ser-rich.|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						CAGTTCTGAGTTTTTCTTTTC	0.463													C	9086385	T	C	9086385	2	2	364	1	0	0	0	0	0	0	0	1	10049	1722	60	3		3	MUC16	19	9086385	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	364	9086385	50042598	13284	36786											
MUC16	94025	broad.mit.edu	37	chr19	9088125	9088125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtcccccttctgatgcCtccaatgatgtggctggaga	8	10	12	11	0	1	3	0	2	1	1	3	5	3	4	4	3	1	1	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9088125C>A	ENST00000397910.4	-	1	3893	c.3690G>T	c.(3688-3690)gaG>gaT	p.E1230D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1230	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						CTTCTGATGCCTCCAATGATG	0.517													A	9088125	C	A	9088125	3	1	364	1	0	0	0	0	1	0	0	0	10049	680	24	4	40169	4	MUC16	19	9088125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1740	9088125	50040858	13285	36787											
MUC16	94025	broad.mit.edu	37	chr19	9089734	9089734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggagtcagtcccaggctgGttccttccctgaaagctgag	8	10	12	11	0	1	2	1	2	0	0	4	3	4	3	3	3	1	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9089734G>A	ENST00000397910.4	-	1	2284	c.2081C>T	c.(2080-2082)aCc>aTc	p.T694I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	694	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						TCCCAGGCTGGTTCCTTCCCT	0.498													A	9089734	G	A	9089734	3	1	364	1	0	0	0	0	1	0	0	0	10049	1261	44	2	41778	2	MUC16	19	9089734	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1609	9089734	50039249	13286	36788											
OR1M1	125963	broad.mit.edu	37	chr19	9204427	9204427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggcccgtctcgttttctgCggcagccatgaggtgcctca	5	11	12	13	3	3	1	1	1	2	0	4	1	3	1	3	3	3	2	3	3	0	2	rs143401934	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204427C>T	ENST00000429566.3	+	1	573	c.507C>T	c.(505-507)tgC>tgT	p.C169C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						TCGTTTTCTGCGGCAGCCATG	0.577													T	9204427	C	T	9204427	2	4	364	1	0	0	0	0	0	0	0	1	11044	776	27	1		1	OR1M1	19	9204427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114693	9204427	49924556	13287	36789											
OR1M1	125963	broad.mit.edu	37	chr19	9204457	9204457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggtgcctcactacttctgCgacctcactcccatcctccg	6	10	7	18	2	3	0	2	0	1	0	6	2	6	0	5	1	3	0	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204457C>T	ENST00000429566.3	+	1	603	c.537C>T	c.(535-537)tgC>tgT	p.C179C		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C179C(1)		breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ACTACTTCTGCGACCTCACTC	0.562													T	9204457	C	T	9204457	2	4	364	1	0	0	0	0	0	0	0	1	11044	776	27	1		1	OR1M1	19	9204457	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30	9204457	49924526	13288	36790											
OR1M1	125963	broad.mit.edu	37	chr19	9204585	9204585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctcctatgctcgcatccTtgtggccatcatgaaggtcc	6	11	10	14	1	1	1	1	1	0	0	5	1	4	1	5	3	1	2	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9204585T>C	ENST00000429566.3	+	1	731	c.665T>C	c.(664-666)cTt>cCt	p.L222P		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	222					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GCTCGCATCCTTGTGGCCATC	0.567													C	9204585	T	C	9204585	3	2	364	1	0	0	0	0	1	0	0	0	11044	1609	56	3	667	3	OR1M1	19	9204585	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	128	9204585	49924398	13289	36791											
ZNF317	57693	broad.mit.edu	37	chr19	9270912	9270912	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggccctatcaccgccgCgactatggggtagcgttcaa	10	7	12	12	4	2	1	2	0	0	1	2	2	2	1	3	3	1	2	3	3	5	4	rs144830860		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9270912C>T	ENST00000247956.6	+	7	896	c.591C>T	c.(589-591)cgC>cgT	p.R197R	ZNF317_ENST00000360385.3_Silent_p.R165R	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	197					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						ATCACCGCCGCGACTATGGGG	0.542													T	9270912	C	T	9270912	2	4	364	1	0	0	0	0	0	0	0	1	17936	755	27	1		1	ZNF317	19	9270912	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66327	9270912	49858071	13290	36792											
ZNF317	57693	broad.mit.edu	37	chr19	9271665	9271665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagaaaccatacgggtgCgatctctgcgggaaagcttt	11	8	14	8	3	1	1	0	0	1	1	2	5	1	3	1	3	5	1	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9271665C>T	ENST00000247956.6	+	7	1649	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	ZNF317_ENST00000360385.3_Silent_p.C416C	NM_020933.4	NP_065984.3	Q96PQ6	ZN317_HUMAN	zinc finger protein 317	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	27						CATACGGGTGCGATCTCTGCG	0.547													T	9271665	C	T	9271665	2	4	364	1	0	0	0	0	0	0	0	1	17936	776	27	1		1	ZNF317	19	9271665	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	753	9271665	49857318	13291	36793											
OR7D2	162998	broad.mit.edu	37	chr19	9297234	9297234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaggcattggggtccaCttcacttctgcggtgactca	7	10	13	11	1	3	1	2	1	1	0	4	2	4	2	1	5	1	1	1	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9297234C>T	ENST00000344248.2	+	1	956	c.777C>T	c.(775-777)caC>caT	p.H259H		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	259					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						TTGGGGTCCACTTCACTTCTG	0.512													T	9297234	C	T	9297234	2	4	364	1	0	0	0	0	0	0	0	1	11295	564	20	2		2	OR7D2	19	9297234	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25569	9297234	49831749	13292	36794											
OR7E24	26648	broad.mit.edu	37	chr19	9361936	9361936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcagctctgactcccacCtccacacccccatgtacttc	7	10	4	20	0	2	1	1	1	1	0	5	1	4	1	5	0	2	2	5	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9361936C>A	ENST00000456448.1	+	1	331	c.217C>A	c.(217-219)Ctc>Atc	p.L73I		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	73					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TGACTCCCACCTCCACACCCC	0.572													A	9361936	C	A	9361936	3	1	364	1	0	0	0	0	1	0	0	0	11297	681	24	4	219	4	OR7E24	19	9361936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64702	9361936	49767047	13293	36795											
OR7E24	26648	broad.mit.edu	37	chr19	9362594	9362594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggaagagtatggtggCttcagtgatgtacactgtgg	9	10	14	8	0	1	2	1	1	0	1	1	3	1	3	2	4	1	3	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9362594C>A	ENST00000456448.1	+	1	989	c.875C>A	c.(874-876)gCt>gAt	p.A292D		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						AGTATGGTGGCTTCAGTGATG	0.517													A	9362594	C	A	9362594	3	1	364	1	0	0	0	0	1	0	0	0	11297	797	28	4	877	4	OR7E24	19	9362594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	658	9362594	49766389	13294	36796											
ZNF559	84527	broad.mit.edu	37	chr19	9452651	9452651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaaatctacatcttgtttGcaagaaaactcacactcaag	16	10	4	11	0	4	1	2	0	2	1	4	1	4	1	1	0	3	2	1	0	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9452651G>A	ENST00000393883.2	+	6	1172	c.524G>A	c.(523-525)tGc>tAc	p.C175Y	ZNF559_ENST00000603380.1_Missense_Mutation_p.C175Y|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_3'UTR|ZNF559_ENST00000592504.1_3'UTR|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.C239Y|ZNF559_ENST00000585352.1_3'UTR|ZNF559_ENST00000538743.1_Missense_Mutation_p.C95Y|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						CATCTTGTTTGCAAGAAAACT	0.388													A	9452651	G	A	9452651	3	1	364	1	0	0	0	0	1	0	0	0	18091	1319	46	2	538	2	ZNF559	19	9452651	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90057	9452651	49676332	13295	36797											
ZNF559	84527	broad.mit.edu	37	chr19	9453292	9453292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtaaggaatgtggaaaaGcctttattaattcctcttcc	13	14	7	7	0	1	0	0	0	1	0	3	2	3	2	3	2	1	1	3	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9453292G>A	ENST00000393883.2	+	6	1813	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	ZNF559_ENST00000603380.1_Missense_Mutation_p.A389T|ZNF177_ENST00000541595.2_Intron|ZNF177_ENST00000602738.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF559_ENST00000587557.1_Missense_Mutation_p.A453T|ZNF559_ENST00000538743.1_Missense_Mutation_p.A309T|ZNF559_ENST00000586255.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000605471.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	389					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATGTGGAAAAGCCTTTATTAA	0.403													A	9453292	G	A	9453292	3	1	364	1	0	0	0	0	1	0	0	0	18091	971	34	2	1179	2	ZNF559	19	9453292	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	641	9453292	49675691	13296	36798											
ZNF177	7730	broad.mit.edu	37	chr19	9492206	9492206	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccttatgagtgtaaccAgtgtggaaagtccttcagca	12	10	11	8	0	1	1	1	1	0	0	2	3	2	2	3	1	3	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9492206A>G	ENST00000541595.2	+	12	1348	c.719A>G	c.(718-720)cAg>cGg	p.Q240R	ZNF177_ENST00000343499.4_Missense_Mutation_p.Q240R|ZNF177_ENST00000589262.1_Missense_Mutation_p.Q400R|ZNF177_ENST00000602738.1_Missense_Mutation_p.Q240R|ZNF177_ENST00000434737.2_Missense_Mutation_p.Q400R|ZNF177_ENST00000602856.1_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000446085.4_3'UTR	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	240					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAGTGTAACCAGTGTGGAAAG	0.458													G	9492206	A	G	9492206	3	3	364	1	0	0	0	0	1	0	0	0	17847	188	7	3	1217	3	ZNF177	19	9492206	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	38914	9492206	49636777	13297	36799											
ZNF266	10781	broad.mit.edu	37	chr19	9523993	9523993	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgccttctttcatgattTcgaaaggaactggaagaact	12	12	9	8	1	2	2	1	1	1	1	3	5	2	4	1	2	3	1	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9523993T>C	ENST00000592904.1	-	5	3684	c.1608A>G	c.(1606-1608)cgA>cgG	p.R536R	ZNF266_ENST00000590306.1_Silent_p.R536R|ZNF266_ENST00000592292.1_Silent_p.R536R|ZNF266_ENST00000588221.1_Silent_p.R536R|ZNF266_ENST00000361151.1_Silent_p.R536R|ZNF266_ENST00000361451.2_Silent_p.R536R|ZNF266_ENST00000588933.1_Silent_p.R536R			Q14584	ZN266_HUMAN	zinc finger protein 266	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TTTCATGATTTCGAAAGGAAC	0.443													C	9523993	T	C	9523993	2	2	364	1	0	0	0	0	0	0	0	1	17906	1770	62	3		3	ZNF266	19	9523993	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31787	9523993	49604990	13298	36800											
ZNF266	10781	broad.mit.edu	37	chr19	9524262	9524262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attattaagactggaggaatGcgtaaatgctttaccacatt	14	13	8	6	1	0	1	0	0	0	1	0	3	0	3	1	2	3	2	1	2	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524262G>A	ENST00000592904.1	-	5	3415	c.1339C>T	c.(1339-1341)Cat>Tat	p.H447Y	ZNF266_ENST00000590306.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.H447Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.H447Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.H447Y			Q14584	ZN266_HUMAN	zinc finger protein 266	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						CTGGAGGAATGCGTAAATGCT	0.428													A	9524262	G	A	9524262	3	1	364	1	0	0	0	0	1	0	0	0	17906	1319	46	2	314	2	ZNF266	19	9524262	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	269	9524262	49604721	13299	36801											
ZNF266	10781	broad.mit.edu	37	chr19	9524768	9524768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttaagcaagaggaaacaGtgaaggctctcccacaatcc	15	6	9	11	0	1	2	0	1	1	1	3	4	2	3	2	2	2	2	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9524768G>A	ENST00000592904.1	-	5	2909	c.833C>T	c.(832-834)aCt>aTt	p.T278I	ZNF266_ENST00000590306.1_Missense_Mutation_p.T278I|ZNF266_ENST00000592292.1_Missense_Mutation_p.T278I|ZNF266_ENST00000588221.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361151.1_Missense_Mutation_p.T278I|ZNF266_ENST00000361451.2_Missense_Mutation_p.T278I|ZNF266_ENST00000588933.1_Missense_Mutation_p.T278I			Q14584	ZN266_HUMAN	zinc finger protein 266	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						AGAGGAAACAGTGAAGGCTCT	0.423													A	9524768	G	A	9524768	3	1	364	1	0	0	0	0	1	0	0	0	17906	1029	36	2	820	2	ZNF266	19	9524768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506	9524768	49604215	13300	36802											
ZNF266	10781	broad.mit.edu	37	chr19	9525241	9525241	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctccagtagaggttttCttgtgcagagtaaggaagtc	9	13	12	7	0	2	2	0	0	2	2	4	3	2	3	1	2	2	5	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525241C>A	ENST00000592904.1	-	5	2436	c.360G>T	c.(358-360)aaG>aaT	p.K120N	ZNF266_ENST00000590306.1_Missense_Mutation_p.K120N|ZNF266_ENST00000592292.1_Missense_Mutation_p.K120N|ZNF266_ENST00000588221.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361151.1_Missense_Mutation_p.K120N|ZNF266_ENST00000361451.2_Missense_Mutation_p.K120N|ZNF266_ENST00000588933.1_Missense_Mutation_p.K120N			Q14584	ZN266_HUMAN	zinc finger protein 266	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TAGAGGTTTTCTTGTGCAGAG	0.438													A	9525241	C	A	9525241	3	1	364	1	0	0	0	0	1	0	0	0	17906	912	32	4	1293	4	ZNF266	19	9525241	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	473	9525241	49603742	13301	36803											
ZNF266	10781	broad.mit.edu	37	chr19	9525366	9525366	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacattgcttaacatCactgacctcccctccgttgt	8	13	4	16	1	2	1	1	1	1	0	5	1	4	1	5	0	2	2	5	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9525366C>A	ENST00000592904.1	-	5	2311	c.235G>T	c.(235-237)Gat>Tat	p.D79Y	ZNF266_ENST00000590306.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000592292.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000588221.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361151.1_Missense_Mutation_p.D79Y|ZNF266_ENST00000361451.2_Missense_Mutation_p.D79Y|ZNF266_ENST00000588933.1_Missense_Mutation_p.D79Y			Q14584	ZN266_HUMAN	zinc finger protein 266	79					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|large_intestine(11)|lung(8)|ovary(1)|skin(2)|stomach(1)	28						TGCTTAACATCACTGACCTCC	0.408													A	9525366	C	A	9525366	3	1	364	1	0	0	0	0	1	0	0	0	17906	826	29	4	1418	4	ZNF266	19	9525366	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125	9525366	49603617	13302	36804											
ZNF560	147741	broad.mit.edu	37	chr19	9578110	9578110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtgagttctcaaatgagCaaaaagagatgagaaagaaa	20	7	11	3	0	1	5	1	3	1	3	2	7	1	5	0	0	1	2	0	0	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578110C>T	ENST00000301480.4	-	10	1726	c.1513G>A	c.(1513-1515)Gct>Act	p.A505T		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCAAATGAGCAAAAAGAGAT	0.408													T	9578110	C	T	9578110	3	4	364	1	0	0	0	0	1	0	0	0	18092	710	25	2	863	2	ZNF560	19	9578110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52744	9578110	49550873	13303	36805											
ZNF560	147741	broad.mit.edu	37	chr19	9578926	9578926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctattttgagtactcaTgttggtcttaaggcatggat	8	16	10	7	0	3	1	1	1	2	0	3	2	3	2	1	3	1	3	1	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9578926T>C	ENST00000301480.4	-	10	910	c.697A>G	c.(697-699)Atg>Gtg	p.M233V		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						TGAGTACTCATGTTGGTCTTA	0.378													C	9578926	T	C	9578926	3	2	364	1	0	0	0	0	1	0	0	0	18092	1464	51	3	1679	3	ZNF560	19	9578926	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	816	9578926	49550057	13304	36806											
ZNF426	79088	broad.mit.edu	37	chr19	9639588	9639588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttatatgttgaataaggCgtgaggatgtaaggaaggat	13	13	13	2	1	1	2	0	2	1	0	1	5	1	5	0	4	0	2	0	4	6	6	rs143787580		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639588C>T	ENST00000593003.1	-	6	1496	c.1019G>A	c.(1018-1020)cGc>cAc	p.R340H	ZNF426_ENST00000253115.2_Missense_Mutation_p.R378H|ZNF426_ENST00000535489.1_Missense_Mutation_p.R378H			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R378H(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TTGAATAAGGCGTGAGGATGT	0.428													T	9639588	C	T	9639588	3	4	364	1	0	0	0	0	1	0	0	0	18001	768	27	1	535	1	ZNF426	19	9639588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60662	9639588	49489395	13305	36807											
ZNF426	79088	broad.mit.edu	37	chr19	9639635	9639635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccttacattcatagggCttgtctccactgtgagatcg	8	14	8	11	1	2	1	1	1	1	1	5	2	3	1	2	1	1	1	2	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9639635C>T	ENST00000593003.1	-	6	1449	c.972G>A	c.(970-972)aaG>aaA	p.K324K	ZNF426_ENST00000253115.2_Silent_p.K362K|ZNF426_ENST00000535489.1_Silent_p.K362K			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	362					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						ATTCATAGGGCTTGTCTCCAC	0.443													T	9639635	C	T	9639635	2	4	364	1	0	0	0	0	0	0	0	1	18001	796	28	2		2	ZNF426	19	9639635	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	9639635	49489348	13306	36808											
ZNF121	7675	broad.mit.edu	37	chr19	9677073	9677073	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcagttagtagataaaacCtattgtaggctttcccacat	12	14	7	8	0	1	1	1	0	0	1	2	1	2	1	2	1	1	5	2	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677073C>A	ENST00000586602.1	-	6	1132	c.716G>T	c.(715-717)aGg>aTg	p.R239M	ZNF121_ENST00000320451.6_Missense_Mutation_p.R239M			P58317	ZN121_HUMAN	zinc finger protein 121	239					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						TAGATAAAACCTATTGTAGGC	0.428													A	9677073	C	A	9677073	3	1	364	1	0	0	0	0	1	0	0	0	17820	681	24	4	460	4	ZNF121	19	9677073	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37438	9677073	49451910	13307	36809											
ZNF121	7675	broad.mit.edu	37	chr19	9677208	9677208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaggtttctctccagtaTgaattcttacatgttcaact	11	16	6	8	0	3	1	1	1	2	0	5	2	4	1	1	1	2	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9677208T>C	ENST00000586602.1	-	6	997	c.581A>G	c.(580-582)cAt>cGt	p.H194R	ZNF121_ENST00000320451.6_Missense_Mutation_p.H194R			P58317	ZN121_HUMAN	zinc finger protein 121	194					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H194L(1)		breast(3)|kidney(4)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	24						CTCTCCAGTATGAATTCTTAC	0.448													C	9677208	T	C	9677208	3	2	364	1	0	0	0	0	1	0	0	0	17820	1464	51	3	595	3	ZNF121	19	9677208	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	135	9677208	49451775	13308	36810											
ZNF562	54811	broad.mit.edu	37	chr19	9763660	9763660	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgagttttcaaatgtttacTacgatgggaagaagtaatga	14	13	11	3	1	1	3	1	2	0	1	1	5	1	4	0	1	2	3	0	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9763660T>C	ENST00000448622.1	-	6	1408	c.1246A>G	c.(1246-1248)Agt>Ggt	p.S416G	ZNF562_ENST00000453372.2_Missense_Mutation_p.S416G|ZNF562_ENST00000541032.1_Missense_Mutation_p.S379G|ZNF562_ENST00000293648.4_Missense_Mutation_p.S344G|ZNF562_ENST00000453792.2_Missense_Mutation_p.S347G|ZNF562_ENST00000537617.1_Missense_Mutation_p.S300G|ZNF562_ENST00000590155.1_Missense_Mutation_p.S415G	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						AAATGTTTACTACGATGGGAA	0.403													C	9763660	T	C	9763660	3	2	364	1	0	0	0	0	1	0	0	0	18094	1522	53	3	38	3	ZNF562	19	9763660	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	86452	9763660	49365323	13309	36811											
ZNF562	54811	broad.mit.edu	37	chr19	9764264	9764264	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatcaaggcttgcaaaataCttaaagccttttccacattc	13	14	4	10	0	1	0	1	0	0	0	3	0	2	0	2	1	3	2	2	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9764264C>A	ENST00000448622.1	-	6	804	c.642G>T	c.(640-642)aaG>aaT	p.K214N	ZNF562_ENST00000453372.2_Missense_Mutation_p.K214N|ZNF562_ENST00000541032.1_Missense_Mutation_p.K177N|ZNF562_ENST00000293648.4_Missense_Mutation_p.K142N|ZNF562_ENST00000453792.2_Missense_Mutation_p.K145N|ZNF562_ENST00000537617.1_Missense_Mutation_p.K98N|ZNF562_ENST00000590155.1_Missense_Mutation_p.K213N	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTGCAAAATACTTAAAGCCTT	0.408													A	9764264	C	A	9764264	3	1	364	1	0	0	0	0	1	0	0	0	18094	564	20	4	642	4	ZNF562	19	9764264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	604	9764264	49364719	13310	36812											
UBL5	59286	broad.mit.edu	37	chr19	9939539	9939539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttaaggaccacgtgtCtctgggggactgtatccttt	7	15	11	8	1	1	0	0	0	1	0	3	3	2	2	2	3	0	1	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9939539C>A	ENST00000358666.3	+	4	351	c.167C>A	c.(166-168)tCt>tAt	p.S56Y	UBL5_ENST00000590068.1_Missense_Mutation_p.S56Y|UBL5_ENST00000586895.1_Missense_Mutation_p.S56Y|UBL5_ENST00000593087.1_Missense_Mutation_p.L27I|UBL5_ENST00000589960.1_Intron	NM_024292.3	NP_077268.1	Q9BZL1	UBL5_HUMAN	ubiquitin-like 5	56	Ubiquitin-like.					cytoplasm				kidney(1)|lung(1)	2						GACCACGTGTCTCTGGGGGAC	0.438													A	9939539	C	A	9939539	3	1	364	1	0	0	0	0	1	0	0	0	16991	913	32	4	177	4	UBL5	19	9939539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175275	9939539	49189444	13311	36813											
OLFM2	93145	broad.mit.edu	37	chr19	9964942	9964942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgttgttccaggtatagaGggcgcgctcccgggggttgt	4	10	17	10	4	0	1	0	0	0	1	2	1	2	1	3	4	0	5	3	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:9964942G>T	ENST00000264833.4	-	6	1470	c.1285C>A	c.(1285-1287)Ctc>Atc	p.L429I	OLFM2_ENST00000590841.1_Missense_Mutation_p.L351I	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	429	Olfactomedin-like.					extracellular region				breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CAGGTATAGAGGGCGCGCTCC	0.567													T	9964942	G	T	9964942	3	4	364	1	0	0	0	0	1	0	0	0	10929	1000	35	4	83	4	OLFM2	19	9964942	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25403	9964942	49164041	13312	36814											
COL5A3	50509	broad.mit.edu	37	chr19	10085059	10085059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggcctgggggtcccCggcgcccctgagccccgtct	5	5	14	17	3	1	2	0	1	1	1	2	2	2	2	7	4	1	0	7	4	1	0	rs140683403		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10085059C>T	ENST00000264828.3	-	46	3453	c.3368G>A	c.(3367-3369)cGg>cAg	p.R1123Q		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1123	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			TGGGGGTCCCCGGCGCCCCTG	0.602													T	10085059	C	T	10085059	3	4	364	1	0	0	0	0	1	0	0	0	3729	652	23	1	1957	1	COL5A3	19	10085059	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120117	10085059	49043924	13313	36815											
RDH8	50700	broad.mit.edu	37	chr19	10124164	10124164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtcacgagtccagggaGgggatcaacatggccgctgc	9	5	17	10	2	2	0	2	0	0	0	3	4	3	3	2	6	2	1	2	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10124164G>T	ENST00000591589.1	+	1	240	c.51G>T	c.(49-51)gaG>gaT	p.E17D	RDH8_ENST00000171214.1_5'UTR			Q9NYR8	RDH8_HUMAN	retinol dehydrogenase 8 (all-trans)	0					estrogen biosynthetic process|response to stimulus|visual perception	cytoplasm|integral to plasma membrane	binding|estradiol 17-beta-dehydrogenase activity|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity			endometrium(3)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|prostate(1)	21			Epithelial(33;4.24e-05)		Vitamin A(DB00162)	AGTCCAGGGAGGGGATCAACA	0.612													T	10124164	G	T	10124164	3	4	364	1	0	0	0	0	1	0	0	0	13284	1015	35	4		4	RDH8	19	10124164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39105	10124164	49004819	13314	36816											
C19orf66	55337	broad.mit.edu	37	chr19	10200023	10200023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggcgatatgtcacaacAtcaacaagcatgtggcattt	14	9	10	8	1	2	0	2	0	0	0	2	1	2	0	0	3	3	2	0	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10200023A>G	ENST00000397881.3	+	3	488	c.11A>G	c.(10-12)cAt>cGt	p.H4R	C19orf66_ENST00000253110.11_Intron|C19orf66_ENST00000591813.1_Intron|CTD-2240E14.4_ENST00000589622.1_RNA			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	0										large_intestine(3)|skin(1)	4						ATGTCACAACATCAACAAGCA	0.547													G	10200023	A	G	10200023	3	3	364	1	0	0	0	0	1	0	0	0	1965	232	8	3		3	C19orf66	19	10200023	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	75859	10200023	48928960	13315	36817											
ANGPTL6	83854	broad.mit.edu	37	chr19	10206720	10206720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggcgatgagactgctctGctgggtgacgagctgcgcca	6	7	17	11	4	1	2	0	2	1	1	1	5	1	2	1	2	4	3	1	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10206720G>C	ENST00000253109.4	-	2	758	c.520C>G	c.(520-522)Cag>Gag	p.Q174E	ANGPTL6_ENST00000592641.1_Missense_Mutation_p.Q174E|ANGPTL6_ENST00000589181.1_Missense_Mutation_p.Q174E	NM_031917.2	NP_114123.2	Q8NI99	ANGL6_HUMAN	angiopoietin-like 6	174					angiogenesis|cell differentiation|signal transduction	extracellular space	receptor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)	12			OV - Ovarian serous cystadenocarcinoma(20;3.58e-08)|Epithelial(33;2.5e-05)|all cancers(31;5.96e-05)			AGACTGCTCTGCTGGGTGACG	0.716													C	10206720	G	C	10206720	3	2	364	1	0	0	0	0	1	0	0	0	618	1328	46	4	912	4	ANGPTL6	19	10206720	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6697	10206720	48922263	13316	36818											
DNMT1	1786	broad.mit.edu	37	chr19	10251517	10251517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacacatccagggtccgcaGcttgggcagcttgatctcta	10	9	10	12	1	1	1	0	1	1	0	4	1	3	1	2	2	3	4	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10251517G>T	ENST00000340748.4	-	31	3650	c.3415C>A	c.(3415-3417)Ctg>Atg	p.L1139M	DNMT1_ENST00000540357.1_Missense_Mutation_p.L1139M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1155M|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1139	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AGGGTCCGCAGCTTGGGCAGC	0.612													T	10251517	G	T	10251517	3	4	364	1	0	0	0	0	1	0	0	0	4714	962	34	4	1475	4	DNMT1	19	10251517	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44797	10251517	48877466	13317	36819											
DNMT1	1786	broad.mit.edu	37	chr19	10254557	10254557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagggctcaggggcatccaGgttgctgcctttgatgtagt	6	12	15	8	0	1	1	1	1	0	0	2	1	2	1	2	4	2	6	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10254557G>T	ENST00000340748.4	-	28	3188	c.2953C>A	c.(2953-2955)Ctg>Atg	p.L985M	DNMT1_ENST00000540357.1_Missense_Mutation_p.L985M|DNMT1_ENST00000359526.4_Missense_Mutation_p.L1001M|DNMT1_ENST00000589538.1_5'UTR			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	985	BAH 2.				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	GGGGCATCCAGGTTGCTGCCT	0.562													T	10254557	G	T	10254557	3	4	364	1	0	0	0	0	1	0	0	0	4714	991	35	4	1949	4	DNMT1	19	10254557	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3040	10254557	48874426	13318	36820											
DNMT1	1786	broad.mit.edu	37	chr19	10265644	10265644	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcaggaactccaccacAatcttgctgatgtagatctt	10	12	7	12	0	3	2	0	1	3	1	4	3	4	3	2	1	3	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265644A>G	ENST00000340748.4	-	19	1768	c.1533T>C	c.(1531-1533)atT>atC	p.I511I	DNMT1_ENST00000540357.1_Silent_p.I511I|DNMT1_ENST00000359526.4_Silent_p.I527I			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	511	DNA replication foci-targeting sequence (By similarity).|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	ACTCCACCACAATCTTGCTGA	0.512													G	10265644	A	G	10265644	2	3	364	1	0	0	0	0	0	0	0	1	4714	126	5	3		3	DNMT1	19	10265644	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	11087	10265644	48863339	13319	36821											
DNMT1	1786	broad.mit.edu	37	chr19	10265689	10265689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcagcccaaatatgggCgcatactcgggactgggatc	10	8	12	11	2	1	0	1	0	0	0	3	2	1	2	1	3	3	2	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10265689C>T	ENST00000340748.4	-	19	1723	c.1488G>A	c.(1486-1488)gcG>gcA	p.A496A	DNMT1_ENST00000540357.1_Silent_p.A496A|DNMT1_ENST00000359526.4_Silent_p.A512A			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	496	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAAATATGGGCGCATACTCGG	0.517													T	10265689	C	T	10265689	2	4	364	1	0	0	0	0	0	0	0	1	4714	755	27	1		1	DNMT1	19	10265689	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45	10265689	48863294	13320	36822											
DNMT1	1786	broad.mit.edu	37	chr19	10270410	10270410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggcatcaaagatggacaGcttctcatttgtcagcatct	10	13	9	9	0	4	1	3	0	2	1	5	2	4	2	0	2	2	4	0	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10270410G>A	ENST00000340748.4	-	16	1391	c.1156C>T	c.(1156-1158)Ctg>Ttg	p.L386L	DNMT1_ENST00000540357.1_Silent_p.L386L|DNMT1_ENST00000359526.4_Silent_p.L402L			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	386	DNA replication foci-targeting sequence (By similarity).|Homodimerization.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	AAGATGGACAGCTTCTCATTT	0.542													A	10270410	G	A	10270410	2	1	364	1	0	0	0	0	0	0	0	1	4714	962	34	2		2	DNMT1	19	10270410	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4721	10270410	48858573	13321	36823											
DNMT1	1786	broad.mit.edu	37	chr19	10277310	10277310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcgtcagcctgcacGcctgccctggcttctctgtc	2	12	9	18	3	2	0	1	0	1	0	7	0	3	0	4	1	3	2	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10277310G>A	ENST00000340748.4	-	10	1042	c.807C>T	c.(805-807)ggC>ggT	p.G269G	DNMT1_ENST00000540357.1_Silent_p.G269G|DNMT1_ENST00000359526.4_Silent_p.G285G			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	269	Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	CAGCCTGCACGCCTGCCCTGG	0.567													A	10277310	G	A	10277310	2	1	364	1	0	0	0	0	0	0	0	1	4714	1074	38	1		1	DNMT1	19	10277310	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6900	10277310	48851673	13322	36824											
MRPL4	51073	broad.mit.edu	37	chr19	10369091	10369091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttccttccaccaggaCgacctgcacatcatggactc	9	10	6	16	1	1	0	1	0	0	0	5	3	4	2	5	2	1	1	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10369091C>T	ENST00000393733.2	+	7	582	c.555C>T	c.(553-555)gaC>gaT	p.D185D	MRPL4_ENST00000307422.5_Silent_p.D185D|MRPL4_ENST00000590669.1_Silent_p.D185D|MRPL4_ENST00000588502.1_Silent_p.D184D|CTD-2369P2.5_ENST00000592893.1_RNA|MRPL4_ENST00000253099.6_Silent_p.D185D			Q9BYD3	RM04_HUMAN	mitochondrial ribosomal protein L4	185					translation	mitochondrion|ribosome	structural constituent of ribosome			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11		Renal(1328;0.0112)	OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;1.99e-06)|all cancers(31;4.81e-06)	Lung(535;0.00705)		TCCACCAGGACGACCTGCACA	0.637													T	10369091	C	T	10369091	2	4	364	1	0	0	0	0	0	0	0	1	9879	535	19	1		1	MRPL4	19	10369091	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91781	10369091	48759892	13323	36825											
ICAM1	3383	broad.mit.edu	37	chr19	10395205	10395205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttccagcccagccactggGcccgagggcccagctcctgc	5	5	13	18	1	0	0	0	0	0	0	2	1	2	0	6	3	4	2	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10395205G>A	ENST00000264832.3	+	5	1377	c.1052G>A	c.(1051-1053)gGc>gAc	p.G351D	ICAM1_ENST00000423829.2_Missense_Mutation_p.G129D|CTD-2369P2.5_ENST00000592893.1_RNA	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	351	Ig-like C2-type 4.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CAGCCACTGGGCCCGAGGGCC	0.637													A	10395205	G	A	10395205	3	1	364	1	0	0	0	0	1	0	0	0	7537	1203	42	2	1070	2	ICAM1	19	10395205	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26114	10395205	48733778	13324	36826											
ICAM4	3386	broad.mit.edu	37	chr19	10398513	10398513	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacccattacactgatgctCggtgaggcacccctgtaacc	9	8	9	15	1	0	2	0	2	0	0	1	2	0	2	4	2	3	4	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10398513C>T	ENST00000380770.3	+	2	742	c.696C>T	c.(694-696)ctC>ctT	p.L232L	CTD-2369P2.8_ENST00000589379.1_RNA|ICAM4_ENST00000393717.2_Silent_p.L232L|ICAM4_ENST00000340992.4_Splice_Site_p.R207C	NM_001544.4	NP_001535.1	Q14773	ICAM4_HUMAN	intercellular adhesion molecule 4 (Landsteiner-Wiener blood group)	232					cell-cell adhesion|regulation of immune response	extracellular region|integral to membrane|plasma membrane	integrin binding			breast(1)|large_intestine(3)|lung(2)|pancreas(1)	7			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			CACTGATGCTCGGTGAGGCAC	0.652													T	10398513	C	T	10398513	5	4	364	1	0	0	0	0	0	0	1	0	7540	898	31	1	702	1	ICAM4	19	10398513	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3308	10398513	48730470	13325	36827											
ICAM5	7087	broad.mit.edu	37	chr19	10405101	10405101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accggagatggatgaatctaCctgcccaagtcaccagacgt	12	7	10	12	2	2	3	1	1	1	2	2	5	2	4	4	2	2	0	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10405101C>T	ENST00000221980.4	+	9	2078	c.2015C>T	c.(2014-2016)aCc>aTc	p.T672I		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	672	Ig-like C2-type 8.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GATGAATCTACCTGCCCAAGT	0.692													T	10405101	C	T	10405101	3	4	364	1	0	0	0	0	1	0	0	0	7541	507	18	2	2049	2	ICAM5	19	10405101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6588	10405101	48723882	13326	36828											
TYK2	7297	broad.mit.edu	37	chr19	10463181	10463181	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccgaaggaccagacatCtgacgcatagtagaacttat	14	7	8	12	2	1	3	0	1	1	2	1	5	1	4	3	1	1	2	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463181C>A	ENST00000525621.1	-	23	3728	c.3247G>T	c.(3247-3249)Gat>Tat	p.D1083Y	TYK2_ENST00000524462.1_Missense_Mutation_p.D898Y|TYK2_ENST00000529422.1_Intron|TYK2_ENST00000264818.6_Missense_Mutation_p.D1083Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1083	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			GACCAGACATCTGACGCATAG	0.647													A	10463181	C	A	10463181	3	1	364	1	0	0	0	0	1	0	0	0	16912	913	32	4	328	4	TYK2	19	10463181	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58080	10463181	48665802	13327	36829											
TYK2	7297	broad.mit.edu	37	chr19	10463722	10463722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttgtccagcagcacgttgCgcgcggctaggtctcggtgg	4	9	16	12	6	1	0	0	0	1	0	3	0	2	0	1	4	3	5	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10463722C>T	ENST00000525621.1	-	22	3561	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	TYK2_ENST00000524462.1_Missense_Mutation_p.R842H|TYK2_ENST00000529422.1_5'UTR|TYK2_ENST00000264818.6_Missense_Mutation_p.R1027H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	1027	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity	p.R1027H(1)		breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CAGCACGTTGCGCGCGGCTAG	0.662													T	10463722	C	T	10463722	3	4	364	1	0	0	0	0	1	0	0	0	16912	768	27	1	499	1	TYK2	19	10463722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	541	10463722	48665261	13328	36830											
TYK2	7297	broad.mit.edu	37	chr19	10465199	10465199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcacctcgcccagatCtcggatctttttcaaatagc	8	12	6	15	2	4	1	2	0	2	1	7	2	5	2	3	1	1	0	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10465199C>A	ENST00000525621.1	-	19	3185	c.2704G>T	c.(2704-2706)Gat>Tat	p.D902Y	TYK2_ENST00000524462.1_Missense_Mutation_p.D717Y|TYK2_ENST00000264818.6_Missense_Mutation_p.D902Y	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	902	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCGCCCAGATCTCGGATCTTT	0.552													A	10465199	C	A	10465199	3	1	364	1	0	0	0	0	1	0	0	0	16912	913	32	4	887	4	TYK2	19	10465199	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1477	10465199	48663784	13329	36831											
TYK2	7297	broad.mit.edu	37	chr19	10472565	10472565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccctcctcagggtcccCgctgccctccactcgcaggc	3	8	9	21	2	1	0	1	0	0	0	5	0	4	0	6	2	2	2	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10472565C>T	ENST00000525621.1	-	13	2321	c.1840G>A	c.(1840-1842)Ggg>Agg	p.G614R	TYK2_ENST00000524462.1_Missense_Mutation_p.G429R|TYK2_ENST00000529370.1_Missense_Mutation_p.G614R|TYK2_ENST00000264818.6_Missense_Mutation_p.G614R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	614	Protein kinase 1.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCAGGGTCCCCGCTGCCCTCC	0.647													T	10472565	C	T	10472565	3	4	364	1	0	0	0	0	1	0	0	0	16912	652	23	1	1775	1	TYK2	19	10472565	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7366	10472565	48656418	13330	36832											
CDC37	11140	broad.mit.edu	37	chr19	10502251	10502251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgacatccttctcatcGcccgtcttgggaacagcttc	8	11	7	15	2	2	1	1	1	2	0	6	2	3	2	2	1	2	1	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10502251G>A	ENST00000222005.2	-	8	1166	c.1113C>T	c.(1111-1113)ggC>ggT	p.G371G		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	371					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.G371G(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CCTTCTCATCGCCCGTCTTGG	0.592											OREG0025234	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10502251	G	A	10502251	2	1	364	1	0	0	0	0	0	0	0	1	3098	1074	38	1		1	CDC37	19	10502251	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29686	10502251	48626732	13331	36833											
CDC37	11140	broad.mit.edu	37	chr19	10503785	10503785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtccatcttgctgatggCgtcctgcagcatctgcacgt	5	11	13	12	2	2	1	0	1	2	0	4	1	4	1	2	3	4	4	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503785C>T	ENST00000222005.2	-	7	1011	c.958G>A	c.(958-960)Gcc>Acc	p.A320T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	320					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding	p.A320T(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		TTGCTGATGGCGTCCTGCAGC	0.662													T	10503785	C	T	10503785	3	4	364	1	0	0	0	0	1	0	0	0	3098	768	27	1	186	1	CDC37	19	10503785	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1534	10503785	48625198	13332	36834											
CDC37	11140	broad.mit.edu	37	chr19	10503942	10503942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggagccccacctcagggAgggactcgtagacctcgacg	8	4	15	14	4	1	1	1	0	0	1	3	5	1	4	4	4	1	1	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10503942A>G	ENST00000222005.2	-	6	955	c.902T>C	c.(901-903)cTc>cCc	p.L301P		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	301					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		CACCTCAGGGAGGGACTCGTA	0.711													G	10503942	A	G	10503942	3	3	364	1	0	0	0	0	1	0	0	0	3098	304	11	3	246	3	CDC37	19	10503942	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	157	10503942	48625041	13333	36835											
PDE4A	5141	broad.mit.edu	37	chr19	10561606	10561606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcgctctgtcagcgagatgGcctcgcacaaggtgtgcagg	8	8	14	11	3	2	1	1	0	1	1	4	2	2	1	1	3	2	3	1	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10561606G>A	ENST00000380702.2	+	7	706	c.706G>A	c.(706-708)Gcc>Acc	p.A236T	PDE4A_ENST00000352831.6_Missense_Mutation_p.A258T|PDE4A_ENST00000440014.2_Missense_Mutation_p.A197T|PDE4A_ENST00000592685.1_Missense_Mutation_p.A236T|PDE4A_ENST00000293683.5_Missense_Mutation_p.A232T			P27815	PDE4A_HUMAN	phosphodiesterase 4A, cAMP-specific	258					signal transduction	cytosol|membrane fraction|perinuclear region of cytoplasm|ruffle membrane|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(20;5.8e-10)|Epithelial(33;7.58e-07)|all cancers(31;3.91e-06)		Cilostazol(DB01166)|Dipyridamole(DB00975)|Dyphylline(DB00651)|Enprofylline(DB00824)|Iloprost(DB01088)|Milrinone(DB00235)|Pentoxifylline(DB00806)|Phentolamine(DB00692)|Tadalafil(DB00820)|Theophylline(DB00277)	CAGCGAGATGGCCTCGCACAA	0.662													A	10561606	G	A	10561606	3	1	364	1	0	0	0	0	1	0	0	0	11715	1203	42	2	1181	2	PDE4A	19	10561606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57664	10561606	48567377	13334	36836											
KEAP1	9817	broad.mit.edu	37	chr19	10600040	10600040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atacagttgtgcaggacgcaGacgcctaaagggcaccatgc	12	6	12	11	2	0	1	0	0	0	1	0	2	0	2	2	2	3	4	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10600040G>A	ENST00000171111.5	-	5	2083	c.1536C>T	c.(1534-1536)gtC>gtT	p.V512V	KEAP1_ENST00000393623.2_Silent_p.V512V	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			GCAGGACGCAGACGCCTAAAG	0.572													A	10600040	G	A	10600040	2	1	364	1	0	0	0	0	0	0	0	1	8199	929	33	2		2	KEAP1	19	10600040	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38434	10600040	48528943	13335	36837											
ATG4D	84971	broad.mit.edu	37	chr19	10662938	10662938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagatggacccaagctgtAccgtgggcttctatgctgga	9	9	12	11	1	1	1	0	0	1	1	1	3	1	3	3	3	3	4	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10662938A>G	ENST00000309469.4	+	9	1353	c.1180A>G	c.(1180-1182)Acc>Gcc	p.T394A	ATG4D_ENST00000540862.1_Missense_Mutation_p.T61A	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	394					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CCCAAGCTGTACCGTGGGCTT	0.612													G	10662938	A	G	10662938	3	3	364	1	0	0	0	0	1	0	0	0	1104	391	14	3	1214	3	ATG4D	19	10662938	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	62898	10662938	48466045	13336	36838											
KRI1	65095	broad.mit.edu	37	chr19	10675645	10675645	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcatctttctgataaatgcgGgggtccttcttcttcaacaa	9	14	8	10	1	5	1	1	1	4	0	6	1	6	1	1	2	2	1	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10675645G>A	ENST00000312962.6	-	3	271	c.252C>T	c.(250-252)ccC>ccT	p.P84P	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.P80P	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	84										NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			GATAAATGCGGGGGTCCTTCT	0.507											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	10675645	G	A	10675645	2	1	364	1	0	0	0	0	0	0	0	1	8502	1219	43	2		2	KRI1	19	10675645	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12707	10675645	48453338	13337	36839											
SLC44A2	57153	broad.mit.edu	37	chr19	10742775	10742775	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcatcctgcttcgcttcCtggctggtattatggtctgg	4	16	10	11	1	3	0	2	0	1	0	6	0	5	0	2	4	1	4	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10742775C>A	ENST00000586078.1	+	10	875	c.766C>A	c.(766-768)Ctg>Atg	p.L256M	SLC44A2_ENST00000335757.5_Missense_Mutation_p.L256M|SLC44A2_ENST00000407327.4_Missense_Mutation_p.L254M	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	256					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	GCTTCGCTTCCTGGCTGGTAT	0.552													A	10742775	C	A	10742775	3	1	364	1	0	0	0	0	1	0	0	0	14730	680	24	4	839	4	SLC44A2	19	10742775	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67130	10742775	48386208	13338	36840											
SLC44A2	57153	broad.mit.edu	37	chr19	10746140	10746140	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaacgaagcggtctataaGatctttgatgacagcccctg	11	10	9	11	2	2	3	0	2	2	1	3	4	3	3	3	1	3	0	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10746140G>T	ENST00000586078.1	+	14	1291	c.1182G>T	c.(1180-1182)aaG>aaT	p.K394N	SLC44A2_ENST00000335757.5_Missense_Mutation_p.K394N|SLC44A2_ENST00000407327.4_Missense_Mutation_p.K392N	NM_020428.3	NP_065161.3	Q8IWA5	CTL2_HUMAN	solute carrier family 44 (choline transporter), member 2	394					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane|plasma membrane	choline transmembrane transporter activity|signal transducer activity			NS(1)|breast(3)|endometrium(5)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27			Epithelial(33;8.7e-06)|all cancers(31;2.77e-05)		Choline(DB00122)	CGGTCTATAAGATCTTTGATG	0.572													T	10746140	G	T	10746140	3	4	364	1	0	0	0	0	1	0	0	0	14730	933	33	4	1271	4	SLC44A2	19	10746140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3365	10746140	48382843	13339	36841											
ILF3	3609	broad.mit.edu	37	chr19	10781697	10781697	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgccatgtgatggcaaaGcattcttccgtttatccaac	10	11	8	12	2	1	1	0	1	1	0	3	2	3	1	4	1	2	3	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10781697G>T	ENST00000449870.1	+	3	368	c.51G>T	c.(49-51)aaG>aaT	p.K17N	ILF3_ENST00000589998.1_Missense_Mutation_p.K17N|ILF3_ENST00000407004.3_Missense_Mutation_p.K17N|ILF3_ENST00000590261.1_Missense_Mutation_p.K17N|ILF3_ENST00000250241.8_Missense_Mutation_p.K17N|ILF3_ENST00000318511.3_Missense_Mutation_p.K17N|ILF3_ENST00000588657.1_Missense_Mutation_p.K17N|ILF3_ENST00000420083.1_Missense_Mutation_p.K17N|ILF3_ENST00000592763.1_Missense_Mutation_p.K17N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	17					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGATGGCAAAGCATTCTTCCG	0.488													T	10781697	G	T	10781697	3	4	364	1	0	0	0	0	1	0	0	0	7770	962	34	4	57	4	ILF3	19	10781697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35557	10781697	48347286	13340	36842											
ILF3	3609	broad.mit.edu	37	chr19	10782100	10782100	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggtgggcctggtggcaaaGggcctcctactcaaggggga	7	6	18	10	1	1	0	1	0	0	0	2	1	2	1	3	7	1	1	3	7	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10782100G>T	ENST00000449870.1	+	4	617	c.300G>T	c.(298-300)aaG>aaT	p.K100N	ILF3_ENST00000589998.1_Missense_Mutation_p.K100N|ILF3_ENST00000407004.3_Missense_Mutation_p.K100N|ILF3_ENST00000590261.1_Missense_Mutation_p.K100N|ILF3_ENST00000250241.8_Missense_Mutation_p.K100N|ILF3_ENST00000318511.3_Missense_Mutation_p.K100N|ILF3_ENST00000588657.1_Missense_Mutation_p.K100N|ILF3_ENST00000420083.1_Missense_Mutation_p.K100N|ILF3_ENST00000592763.1_Missense_Mutation_p.K100N	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	100	DZF.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGGTGGCAAAGGGCCTCCTAC	0.617													T	10782100	G	T	10782100	3	4	364	1	0	0	0	0	1	0	0	0	7770	991	35	4	310	4	ILF3	19	10782100	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	403	10782100	48346883	13341	36843											
ILF3	3609	broad.mit.edu	37	chr19	10792710	10792710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctatgaatgccctgatgCggttgaaccagctgaagcca	11	8	12	10	1	0	4	0	4	0	0	0	4	0	4	3	2	5	3	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10792710C>T	ENST00000449870.1	+	12	1539	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	ILF3_ENST00000589998.1_Missense_Mutation_p.R408W|ILF3_ENST00000407004.3_Missense_Mutation_p.R408W|ILF3_ENST00000590261.1_Missense_Mutation_p.R408W|ILF3_ENST00000250241.8_Missense_Mutation_p.R408W|ILF3_ENST00000318511.3_Missense_Mutation_p.R408W|ILF3_ENST00000588657.1_Missense_Mutation_p.R408W|ILF3_ENST00000420083.1_Missense_Mutation_p.R408W|ILF3_ENST00000592763.1_Missense_Mutation_p.R408W	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	408	DRBM 1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TGCCCTGATGCGGTTGAACCA	0.582													T	10792710	C	T	10792710	3	4	364	1	0	0	0	0	1	0	0	0	7770	759	27	1	1264	1	ILF3	19	10792710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10610	10792710	48336273	13342	36844											
ILF3	3609	broad.mit.edu	37	chr19	10794150	10794150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccctgacacccctctcGcccttgatgccaacaaaaag	10	10	5	16	1	1	2	0	2	1	0	3	2	2	2	5	0	2	0	5	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794150G>A	ENST00000449870.1	+	15	2112	c.1795G>A	c.(1795-1797)Gcc>Acc	p.A599T	ILF3_ENST00000589998.1_Missense_Mutation_p.A595T|ILF3_ENST00000407004.3_Missense_Mutation_p.A599T|ILF3_ENST00000590261.1_Missense_Mutation_p.A595T|ILF3_ENST00000250241.8_Missense_Mutation_p.A595T|ILF3_ENST00000318511.3_Missense_Mutation_p.A595T|ILF3_ENST00000588657.1_Missense_Mutation_p.A599T|ILF3_ENST00000420083.1_Missense_Mutation_p.A595T|ILF3_ENST00000592763.1_Missense_Mutation_p.A599T	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	595					M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CACCCCTCTCGCCCTTGATGC	0.552													A	10794150	G	A	10794150	3	1	364	1	0	0	0	0	1	0	0	0	7770	1087	38	1	1849	1	ILF3	19	10794150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1440	10794150	48334833	13343	36845											
ILF3	3609	broad.mit.edu	37	chr19	10794426	10794426	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggacgagggcgcgggcgaGgatttggtggcgccaaccat	7	5	20	9	5	0	0	0	0	0	0	0	4	0	2	2	7	1	0	2	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10794426G>T	ENST00000449870.1	+	16	2295	c.1978G>T	c.(1978-1980)Gga>Tga	p.G660*	ILF3_ENST00000589998.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000407004.3_Nonsense_Mutation_p.G660*|ILF3_ENST00000590261.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000250241.8_Nonsense_Mutation_p.G656*|ILF3_ENST00000318511.3_Nonsense_Mutation_p.G656*|ILF3_ENST00000588657.1_Nonsense_Mutation_p.G660*|ILF3_ENST00000420083.1_Nonsense_Mutation_p.G656*|ILF3_ENST00000592763.1_Nonsense_Mutation_p.G660*	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	656	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GCGCGGGCGAGGATTTGGTGG	0.652													T	10794426	G	T	10794426	4	4	364	1	0	0	0	0	0	1	0	0	7770	1001	35	4	2036	4	ILF3	19	10794426	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	276	10794426	48334557	13344	36846											
QTRT1	81890	broad.mit.edu	37	chr19	10823678	10823678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagtgacaacacggccGcgctgcaccacctcacggtc	9	5	10	17	4	1	1	1	1	0	0	2	1	1	1	3	2	3	3	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10823678G>A	ENST00000250237.5	+	9	1031	c.1021G>A	c.(1021-1023)Gcg>Acg	p.A341T		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	341					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			CAACACGGCCGCGCTGCACCA	0.682													A	10823678	G	A	10823678	3	1	364	1	0	0	0	0	1	0	0	0	12973	1087	38	1	1055	1	QTRT1	19	10823678	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29252	10823678	48305305	13345	36847											
DNM2	1785	broad.mit.edu	37	chr19	10886449	10886449	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgaccagcctccagacatCgagtaccagatcaaggacat	13	5	10	13	2	1	2	1	0	0	2	3	5	2	3	4	2	2	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10886449C>T	ENST00000314646.5	+	4	620	c.456C>T	c.(454-456)atC>atT	p.I152I	DNM2_ENST00000355667.6_Silent_p.I152I|DNM2_ENST00000591819.1_3'UTR|DNM2_ENST00000408974.4_Silent_p.I152I|DNM2_ENST00000359692.6_Silent_p.I152I|DNM2_ENST00000585892.1_Silent_p.I152I|DNM2_ENST00000389253.4_Silent_p.I152I			P50570	DYN2_HUMAN	dynamin 2	152					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTCCAGACATCGAGTACCAGA	0.582			"F, N, Splice, Mis, O"		ETP ALL								T	10886449	C	T	10886449	2	4	364	1	0	0	0	0	0	0	0	1	4711	874	31	1		1	DNM2	19	10886449	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62771	10886449	48242534	13346	36848											
DNM2	1785	broad.mit.edu	37	chr19	10904445	10904445	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagaggatcgagggctcaGgagatcaggtggacactctg	12	6	16	7	1	3	3	2	0	1	3	4	7	3	5	0	5	0	1	0	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10904445G>T	ENST00000314646.5	+	8	1206	c.1042G>T	c.(1042-1044)Gga>Tga	p.G348*	DNM2_ENST00000355667.6_Nonsense_Mutation_p.G348*|DNM2_ENST00000408974.4_Nonsense_Mutation_p.G348*|DNM2_ENST00000359692.6_Nonsense_Mutation_p.G348*|DNM2_ENST00000585892.1_Nonsense_Mutation_p.G348*|DNM2_ENST00000389253.4_Nonsense_Mutation_p.G348*			P50570	DYN2_HUMAN	dynamin 2	348					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CGAGGGCTCAGGAGATCAGGT	0.547			"F, N, Splice, Mis, O"		ETP ALL								T	10904445	G	T	10904445	4	4	364	1	0	0	0	0	0	1	0	0	4711	1001	35	4	1072	4	DNM2	19	10904445	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17996	10904445	48224538	13347	36849											
DNM2	1785	broad.mit.edu	37	chr19	10906768	10906768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaccccggacttggcattcGaggccattgtgaaaaagcag	11	8	11	11	2	1	1	1	1	0	0	2	3	1	2	3	3	1	2	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10906768G>A	ENST00000359692.6	+	10	1378	c.1228G>A	c.(1228-1230)Gag>Aag	p.E410K	DNM2_ENST00000355667.6_Missense_Mutation_p.E410K|DNM2_ENST00000408974.4_Intron|DNM2_ENST00000585892.1_Missense_Mutation_p.E410K|DNM2_ENST00000314646.5_Intron|DNM2_ENST00000389253.4_Intron	NM_004945.3	NP_004936.2	P50570	DYN2_HUMAN	dynamin 2	410					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	p.E410K(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTGGCATTCGAGGCCATTGT	0.512			"F, N, Splice, Mis, O"		ETP ALL								A	10906768	G	A	10906768	3	1	364	1	0	0	0	0	1	0	0	0	4711	1059	37	1	1266	1	DNM2	19	10906768	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2323	10906768	48222215	13348	36850											
DNM2	1785	broad.mit.edu	37	chr19	10939813	10939813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaggcacagcggcgggaCgacatgctgcgcatgtacca	10	4	14	13	4	0	0	0	0	0	0	0	3	0	1	2	3	4	4	2	3	1	1	rs117598326	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10939813C>T	ENST00000314646.5	+	19	2324	c.2160C>T	c.(2158-2160)gaC>gaT	p.D720D	DNM2_ENST00000355667.6_Silent_p.D720D|DNM2_ENST00000408974.4_Silent_p.D716D|DNM2_ENST00000359692.6_Silent_p.D716D|DNM2_ENST00000585892.1_Silent_p.D720D|DNM2_ENST00000389253.4_Silent_p.D720D			P50570	DYN2_HUMAN	dynamin 2	720	GED.				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGCGGCGGGACGACATGCTGC	0.622			"F, N, Splice, Mis, O"		ETP ALL								T	10939813	C	T	10939813	2	4	364	1	0	0	0	0	0	0	0	1	4711	535	19	1		1	DNM2	19	10939813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33045	10939813	48189170	13349	36851											
TMED1	11018	broad.mit.edu	37	chr19	10943688	10943688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctacgtgggcaccgggcGcttgtcctggaagaagcgct	6	7	17	11	4	0	1	0	0	0	1	1	2	1	2	2	4	2	4	2	4	3	2	rs139213045	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:10943688G>A	ENST00000214869.2	-	4	765	c.667C>T	c.(667-669)Cgc>Tgc	p.R223C	TMED1_ENST00000591695.1_Silent_p.S161S|TMED1_ENST00000588289.1_Missense_Mutation_p.R78C	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	223					cell-cell signaling|signal transduction|transport	integral to membrane|plasma membrane	receptor binding			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						GGCACCGGGCGCTTGTCCTGG	0.612													A	10943688	G	A	10943688	3	1	364	1	0	0	0	0	1	0	0	0	16102	1087	38	1	20	1	TMED1	19	10943688	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3875	10943688	48185295	13350	36852											
YIPF2	78992	broad.mit.edu	37	chr19	11034337	11034337	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccactgcagccaaggcacaGggatgagccacaggacctgg	11	3	14	13	0	0	1	0	1	0	0	0	3	0	3	4	4	3	2	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11034337G>T	ENST00000586748.1	-	8	840	c.668C>A	c.(667-669)cCt>cAt	p.P223H	YIPF2_ENST00000253031.2_Missense_Mutation_p.P223H|YIPF2_ENST00000590329.1_Missense_Mutation_p.P184H			Q9BWQ6	YIPF2_HUMAN	Yip1 domain family, member 2	223						integral to membrane|transport vesicle				cervix(1)|endometrium(1)|lung(3)|ovary(2)	7						CCAAGGCACAGGGATGAGCCA	0.687													T	11034337	G	T	11034337	3	4	364	1	0	0	0	0	1	0	0	0	17580	1000	35	4	290	4	YIPF2	19	11034337	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90649	11034337	48094646	13351	36853											
SMARCA4	6597	broad.mit.edu	37	chr19	11098592	11098592	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatcctgcaggagcgCgagtacaggtgagggcgggg	8	5	21	7	3	0	2	0	1	0	1	1	5	1	3	1	6	3	2	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11098592C>T	ENST00000358026.2	+	6	1394	c.1110C>T	c.(1108-1110)cgC>cgT	p.R370R	SMARCA4_ENST00000589677.1_Silent_p.R370R|SMARCA4_ENST00000450717.3_Silent_p.R370R|SMARCA4_ENST00000444061.3_Silent_p.R370R|SMARCA4_ENST00000590574.1_Silent_p.R370R|SMARCA4_ENST00000541122.2_Silent_p.R370R|SMARCA4_ENST00000344626.4_Silent_p.R370R|SMARCA4_ENST00000413806.3_Silent_p.R370R|SMARCA4_ENST00000429416.3_Silent_p.R370R	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	370					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TGCAGGAGCGCGAGTACAGGT	0.662			"F, N, Mis"		NSCLC								T	11098592	C	T	11098592	2	4	364	1	0	0	0	0	0	0	0	1	14864	755	27	1		1	SMARCA4	19	11098592	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64255	11098592	48030391	13352	36854											
SMARCA4	6597	broad.mit.edu	37	chr19	11107011	11107011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggtgcggcagcacaaGgctgcccaggtcgccaagga	9	4	16	12	2	0	0	0	0	0	0	1	2	0	1	2	5	4	4	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11107011G>T	ENST00000358026.2	+	10	2000	c.1716G>T	c.(1714-1716)aaG>aaT	p.K572N	SMARCA4_ENST00000589677.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.K572N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.K572N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.K572N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.K572N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.K572N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	572					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(3)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCAGCACAAGGCTGCCCAGG	0.597			"F, N, Mis"		NSCLC								T	11107011	G	T	11107011	3	4	364	1	0	0	0	0	1	0	0	0	14864	991	35	4	1750	4	SMARCA4	19	11107011	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8419	11107011	48021972	13353	36855											
SMARCA4	6597	broad.mit.edu	37	chr19	11118620	11118620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcacagcctcccaccCtgcccgtggaggagaagaag	11	3	13	14	1	0	2	0	0	0	2	1	4	1	3	4	3	3	2	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11118620C>A	ENST00000358026.2	+	14	2328	c.2044C>A	c.(2044-2046)Ctg>Atg	p.L682M	SMARCA4_ENST00000589677.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000450717.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000444061.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000590574.1_Missense_Mutation_p.L682M|SMARCA4_ENST00000541122.2_Missense_Mutation_p.L682M|SMARCA4_ENST00000344626.4_Missense_Mutation_p.L682M|SMARCA4_ENST00000413806.3_Missense_Mutation_p.L682M|SMARCA4_ENST00000429416.3_Missense_Mutation_p.L682M	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	682					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCCTCCCACCCTGCCCGTGGA	0.607			"F, N, Mis"		NSCLC								A	11118620	C	A	11118620	3	1	364	1	0	0	0	0	1	0	0	0	14864	680	24	4	2094	4	SMARCA4	19	11118620	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11609	11118620	48010363	13354	36856											
SMARCA4	6597	broad.mit.edu	37	chr19	11134247	11134247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccggcgtctccacaaagtGctgcggcccttcttgctccg	5	10	10	16	4	2	0	0	0	2	0	5	0	4	0	4	2	3	2	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11134247G>A	ENST00000358026.2	+	20	3197	c.2913G>A	c.(2911-2913)gtG>gtA	p.V971V	SMARCA4_ENST00000589677.1_Silent_p.V971V|SMARCA4_ENST00000450717.3_Silent_p.V971V|SMARCA4_ENST00000444061.3_Silent_p.V971V|SMARCA4_ENST00000590574.1_Silent_p.V971V|SMARCA4_ENST00000541122.2_Silent_p.V971V|SMARCA4_ENST00000344626.4_Silent_p.V971V|SMARCA4_ENST00000413806.3_Silent_p.V971V|SMARCA4_ENST00000429416.3_Silent_p.V971V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	971					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCACAAAGTGCTGCGGCCCT	0.567			"F, N, Mis"		NSCLC								A	11134247	G	A	11134247	2	1	364	1	0	0	0	0	0	0	0	1	14864	1306	46	2		2	SMARCA4	19	11134247	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15627	11134247	47994736	13355	36857											
SMARCA4	6597	broad.mit.edu	37	chr19	11135027	11135027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggagtacgtcatcaagtgCgacatgtctgcgctgcagcg	8	9	14	10	4	3	0	2	0	1	0	3	2	3	1	0	1	5	3	0	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11135027C>T	ENST00000358026.2	+	21	3278	c.2994C>T	c.(2992-2994)tgC>tgT	p.C998C	SMARCA4_ENST00000589677.1_Silent_p.C998C|SMARCA4_ENST00000450717.3_Silent_p.C998C|SMARCA4_ENST00000444061.3_Silent_p.C998C|SMARCA4_ENST00000590574.1_Silent_p.C998C|SMARCA4_ENST00000541122.2_Silent_p.C998C|SMARCA4_ENST00000344626.4_Silent_p.C998C|SMARCA4_ENST00000413806.3_Silent_p.C998C|SMARCA4_ENST00000429416.3_Silent_p.C998C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	998					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGTGCGACATGTCTG	0.622			"F, N, Mis"		NSCLC								T	11135027	C	T	11135027	2	4	364	1	0	0	0	0	0	0	0	1	14864	776	27	1		1	SMARCA4	19	11135027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	780	11135027	47993956	13356	36858											
SMARCA4	6597	broad.mit.edu	37	chr19	11145688	11145688	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgtggatcatcaaggaCgacgcggaggtggagcggct	8	6	16	11	5	2	0	2	0	0	0	3	5	2	4	1	6	1	1	1	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11145688C>T	ENST00000358026.2	+	29	4334	c.4050C>T	c.(4048-4050)gaC>gaT	p.D1350D	SMARCA4_ENST00000589677.1_Silent_p.D1317D|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Silent_p.D1317D|SMARCA4_ENST00000444061.3_Silent_p.D1317D|SMARCA4_ENST00000590574.1_Silent_p.D1317D|SMARCA4_ENST00000541122.2_Silent_p.D1317D|SMARCA4_ENST00000344626.4_Silent_p.D1350D|SMARCA4_ENST00000413806.3_Silent_p.D1317D|SMARCA4_ENST00000429416.3_Silent_p.D1350D	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1350					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCATCAAGGACGACGCGGAGG	0.667			"F, N, Mis"		NSCLC								T	11145688	C	T	11145688	2	4	364	1	0	0	0	0	0	0	0	1	14864	535	19	1		1	SMARCA4	19	11145688	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10661	11145688	47983295	13357	36859											
SMARCA4	6597	broad.mit.edu	37	chr19	11150164	11150164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagatatccatgacacaGccagcagtgtggcacgtggg	13	6	13	9	1	0	2	0	1	0	1	1	3	1	2	2	2	2	2	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11150164G>A	ENST00000358026.2	+	30	4485	c.4201G>A	c.(4201-4203)Gcc>Acc	p.A1401T	SMARCA4_ENST00000589677.1_Intron|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000450717.3_Intron|SMARCA4_ENST00000444061.3_Intron|SMARCA4_ENST00000590574.1_Intron|SMARCA4_ENST00000541122.2_Intron|SMARCA4_ENST00000344626.4_Intron|SMARCA4_ENST00000413806.3_Intron|SMARCA4_ENST00000429416.3_Intron	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1389					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ccatgacacaGCCAGCAGTGT	0.493			"F, N, Mis"		NSCLC								A	11150164	G	A	11150164	3	1	364	1	0	0	0	0	1	0	0	0	14864	971	34	2	4315	2	SMARCA4	19	11150164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4476	11150164	47978819	13358	36860											
KANK2	25959	broad.mit.edu	37	chr19	11280725	11280725	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctggttggagactcacgCgatctgtgagtgagatgtca	9	10	13	9	2	3	3	2	2	1	2	3	6	3	3	1	2	0	1	1	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11280725C>T	ENST00000432929.2	-	11	2795	c.2435G>A	c.(2434-2436)cGc>cAc	p.R812H	KANK2_ENST00000586659.1_Splice_Site_p.R804H|KANK2_ENST00000589359.1_Splice_Site_p.R812H|KANK2_ENST00000589894.1_Splice_Site_p.R804H|KANK2_ENST00000355150.5_Splice_Site_p.R804H|KANK2_ENST00000587317.1_5'UTR	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	804										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GAGACTCACGCGATCTGTGAG	0.642													T	11280725	C	T	11280725	5	4	364	1	0	0	0	0	0	0	1	0	8035	782	27	1	156	1	KANK2	19	11280725	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130561	11280725	47848258	13359	36861											
KANK2	25959	broad.mit.edu	37	chr19	11287388	11287388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgagctggggggcttcGgccacactcggaaccctctc	5	7	14	15	2	1	1	0	1	1	0	4	2	1	2	3	6	2	2	3	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11287388G>A	ENST00000432929.2	-	7	2010	c.1650C>T	c.(1648-1650)gcC>gcT	p.A550A	KANK2_ENST00000586659.1_Silent_p.A542A|KANK2_ENST00000589359.1_Silent_p.A550A|KANK2_ENST00000589894.1_Silent_p.A542A|KANK2_ENST00000355150.5_Silent_p.A542A	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	542										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGGGGGCTTCGGCCACACTCG	0.627													A	11287388	G	A	11287388	2	1	364	1	0	0	0	0	0	0	0	1	8035	1103	39	1		1	KANK2	19	11287388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6663	11287388	47841595	13360	36862											
DOCK6	57572	broad.mit.edu	37	chr19	11319682	11319682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgcaccatgcactgggCggcctcggcgtggttgccca	4	7	15	15	5	0	0	0	0	0	0	1	0	0	0	3	4	3	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11319682C>T	ENST00000294618.7	-	38	4860	c.4849G>A	c.(4849-4851)Gcc>Acc	p.A1617T	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.A956T	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1617	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ATGCACTGGGCGGCCTCGGCG	0.692													T	11319682	C	T	11319682	3	4	364	1	0	0	0	0	1	0	0	0	4730	768	27	1	1338	1	DOCK6	19	11319682	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32294	11319682	47809301	13361	36863											
DOCK6	57572	broad.mit.edu	37	chr19	11322803	11322803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgagagagacatggtgaCctgcatcttcacacgggcaa	12	6	13	10	2	2	3	1	1	1	2	2	6	2	4	1	3	1	2	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11322803C>T	ENST00000294618.7	-	36	4527	c.4516G>A	c.(4516-4518)Gtc>Atc	p.V1506I	CTC-510F12.2_ENST00000588634.1_RNA|DOCK6_ENST00000319867.7_Missense_Mutation_p.V845I	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1506	DHR-2.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GACATGGTGACCTGCATCTTC	0.592													T	11322803	C	T	11322803	3	4	364	1	0	0	0	0	1	0	0	0	4730	507	18	2	1679	2	DOCK6	19	11322803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3121	11322803	47806180	13362	36864											
DOCK6	57572	broad.mit.edu	37	chr19	11332616	11332616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagccttcacagtggccTcggcgtagcgggggtcagtg	6	7	16	12	4	2	0	2	0	0	0	3	1	2	0	2	4	2	1	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11332616T>C	ENST00000294618.7	-	28	3472	c.3461A>G	c.(3460-3462)gAg>gGg	p.E1154G	DOCK6_ENST00000319867.7_Missense_Mutation_p.E493G	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	1154					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CACAGTGGCCTCGGCGTAGCG	0.592													C	11332616	T	C	11332616	3	2	364	1	0	0	0	0	1	0	0	0	4730	1551	54	3	2766	3	DOCK6	19	11332616	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9813	11332616	47796367	13363	36865											
DOCK6	57572	broad.mit.edu	37	chr19	11338101	11338101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccggggaagcgcagcttgCggggtgtgtctagtcgctgg	4	9	19	9	4	1	0	0	0	1	0	3	1	2	1	1	5	3	3	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11338101C>T	ENST00000294618.7	-	24	2878	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	DOCK6_ENST00000319867.7_Missense_Mutation_p.R295H	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	956					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity	p.R956H(1)		breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GCGCAGCTTGCGGGGTGTGTC	0.632													T	11338101	C	T	11338101	3	4	364	1	0	0	0	0	1	0	0	0	4730	768	27	1	3376	1	DOCK6	19	11338101	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5485	11338101	47790882	13364	36866											
RAB3D	9545	broad.mit.edu	37	chr19	11436202	11436202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagatgacatccaccaggcGctcgaagacctgcttcacat	11	7	9	14	2	1	3	1	1	0	2	3	4	2	3	3	1	1	3	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11436202G>A	ENST00000222120.3	-	5	792	c.532C>T	c.(532-534)Cgc>Tgc	p.R178C	RAB3D_ENST00000589655.1_Missense_Mutation_p.R178C|TSPAN16_ENST00000316737.1_Intron	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	178					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						TCCACCAGGCGCTCGAAGACC	0.567													A	11436202	G	A	11436202	3	1	364	1	0	0	0	0	1	0	0	0	13022	1087	38	1	131	1	RAB3D	19	11436202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98101	11436202	47692781	13365	36867											
RAB3D	9545	broad.mit.edu	37	chr19	11447954	11447954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaaggagtcgtccgcgtatCggaacaggaaggaagtcttg	11	8	15	7	4	1	1	0	1	1	0	4	5	2	5	1	4	1	1	1	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11447954C>T	ENST00000222120.3	-	2	382	c.122G>A	c.(121-123)cGa>cAa	p.R41Q	RAB3D_ENST00000589655.1_Missense_Mutation_p.R41Q	NM_004283.3	NP_004274.1	O95716	RAB3D_HUMAN	RAB3D, member RAS oncogene family	41					exocytosis|protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|ovary(2)	14						GTCCGCGTATCGGAACAGGAA	0.537													T	11447954	C	T	11447954	3	4	364	1	0	0	0	0	1	0	0	0	13022	884	31	1	553	1	RAB3D	19	11447954	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11752	11447954	47681029	13366	36868											
EPOR	2057	broad.mit.edu	37	chr19	11489001	11489001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctgagccttcatccatggCcactatgtccacactgccac	8	11	6	16	0	2	1	1	1	1	0	4	1	4	1	5	1	2	0	5	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11489001C>T	ENST00000222139.6	-	8	1290	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	EPOR_ENST00000592375.2_3'UTR	NM_000121.3	NP_000112.1	P19235	EPOR_HUMAN	erythropoietin receptor	396						extracellular region|integral to plasma membrane	erythropoietin receptor activity|identical protein binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5					Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	TCATCCATGGCCACTATGTCC	0.597											OREG0025254	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	11489001	C	T	11489001	3	4	364	1	0	0	0	0	1	0	0	0	5230	739	26	2	344	2	EPOR	19	11489001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41047	11489001	47639982	13367	36869											
RGL3	57139	broad.mit.edu	37	chr19	11505135	11505135	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccgccgcagcatgaaGtctctgggggcgactggact	6	10	13	12	3	2	1	0	1	2	0	4	3	3	2	2	3	1	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11505135G>T	ENST00000380456.3	-	19	2139	c.2076C>A	c.(2074-2076)gaC>gaA	p.D692E	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.D698E	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	692	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						GCAGCATGAAGTCTCTGGGGG	0.572													T	11505135	G	T	11505135	3	4	364	1	0	0	0	0	1	0	0	0	13366	1020	36	4	60	4	RGL3	19	11505135	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16134	11505135	47623848	13368	36870											
RGL3	57139	broad.mit.edu	37	chr19	11507938	11507938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccggtccccaggaaggaCttgaaagagctgatagtcac	12	6	11	12	1	1	3	1	2	0	1	2	5	2	5	4	3	1	1	4	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11507938C>T	ENST00000380456.3	-	18	2059	c.1996G>A	c.(1996-1998)Gtc>Atc	p.V666I	RGL3_ENST00000568628.1_5'UTR|RGL3_ENST00000393423.3_Missense_Mutation_p.V672I	NM_001035223.2|NM_001161616.1	NP_001030300.2|NP_001155088.1	Q3MIN7	RGL3_HUMAN	ral guanine nucleotide dissociation stimulator-like 3	666	Interaction with HRAS, MRAS and RIT1 (By similarity).|Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular				breast(1)|endometrium(4)|large_intestine(2)|lung(9)|ovary(1)|skin(1)	18						CCAGGAAGGACTTGAAAGAGC	0.642													T	11507938	C	T	11507938	3	4	364	1	0	0	0	0	1	0	0	0	13366	565	20	2	144	2	RGL3	19	11507938	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2803	11507938	47621045	13369	36871											
ZNF653	115950	broad.mit.edu	37	chr19	11597974	11597974	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacaggtcctccttctCtacagggtggacacagggtg	9	8	12	12	0	1	0	0	0	1	0	4	1	3	1	2	4	2	1	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11597974C>A	ENST00000293771.5	-	5	1308		c.e5-1		CTC-398G3.6_ENST00000585656.1_Intron	NM_138783.3	NP_620138.2	Q96CK0	ZN653_HUMAN	zinc finger protein 653						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	17						TCCTCCTTCTCTACAGGGTGG	0.652													A	11597974	C	A	11597974	5	1	364	1	0	0	0	0	0	0	1	0	18167	927	32	4	696	4	ZNF653	19	11597974	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	90036	11597974	47531009	13370	36872											
ZNF441	126068	broad.mit.edu	37	chr19	11888483	11888483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgtgaggagtgggctttgCtgggtccatcacagaagagt	8	10	15	8	0	1	3	1	1	0	2	2	4	2	4	2	3	1	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11888483C>A	ENST00000357901.4	+	2	163	c.61C>A	c.(61-63)Ctg>Atg	p.L21M	ZNF441_ENST00000454339.2_5'UTR	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GTGGGCTTTGCTGGGTCCATC	0.433													A	11888483	C	A	11888483	3	1	364	1	0	0	0	0	1	0	0	0	18015	796	28	4	67	4	ZNF441	19	11888483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	290509	11888483	47240500	13371	36873											
ZNF441	126068	broad.mit.edu	37	chr19	11890911	11890911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttacccagactcaagacaGtattgtgaacgagaaaatac	16	9	7	9	1	1	4	1	1	0	3	1	5	1	4	1	0	3	1	1	0	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11890911G>A	ENST00000357901.4	+	4	374	c.272G>A	c.(271-273)aGt>aAt	p.S91N	ZNF441_ENST00000454339.2_Missense_Mutation_p.S24N	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	91					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTCAAGACAGTATTGTGAAC	0.398													A	11890911	G	A	11890911	3	1	364	1	0	0	0	0	1	0	0	0	18015	1029	36	2	286	2	ZNF441	19	11890911	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2428	11890911	47238072	13372	36874											
ZNF441	126068	broad.mit.edu	37	chr19	11891085	11891085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatacacaatgtgggacagCtttcagttatcagccctgct	11	11	8	11	0	2	0	2	0	0	0	2	1	2	1	1	1	4	3	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11891085C>T	ENST00000357901.4	+	4	548	c.446C>T	c.(445-447)gCt>gTt	p.A149V	ZNF441_ENST00000454339.2_Missense_Mutation_p.A82V	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TGTGGGACAGCTTTCAGTTAT	0.388													T	11891085	C	T	11891085	3	4	364	1	0	0	0	0	1	0	0	0	18015	797	28	2	460	2	ZNF441	19	11891085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174	11891085	47237898	13373	36875											
ZNF441	126068	broad.mit.edu	37	chr19	11892634	11892634	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataaacatgaaaggacccaCagtatggagaaaccctataa	19	6	7	9	0	0	2	0	1	0	1	0	4	0	3	2	2	2	1	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11892634C>T	ENST00000357901.4	+	4	2097	c.1995C>T	c.(1993-1995)caC>caT	p.H665H	ZNF441_ENST00000454339.2_Silent_p.H598H	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	665					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAAGGACCCACAGTATGGAGA	0.393													T	11892634	C	T	11892634	2	4	364	1	0	0	0	0	0	0	0	1	18015	477	17	2		2	ZNF441	19	11892634	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1549	11892634	47236349	13374	36876											
ZNF439	90594	broad.mit.edu	37	chr19	11979032	11979032	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtggagagaaaccgtataAatgcaagcaatgtggtaaag	17	7	12	5	1	0	1	0	0	0	1	0	3	0	2	1	2	3	4	1	2	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:11979032A>G	ENST00000304030.2	+	3	1348	c.1148A>G	c.(1147-1149)aAa>aGa	p.K383R	ZNF439_ENST00000455282.1_Missense_Mutation_p.K247R|ZNF439_ENST00000592534.1_Intron	NM_152262.2	NP_689475.1	Q8NDP4	ZN439_HUMAN	zinc finger protein 439	383					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(7)|pancreas(1)|skin(2)	27						AAACCGTATAAATGCAAGCAA	0.418													G	11979032	A	G	11979032	3	3	364	1	0	0	0	0	1	0	0	0	18012	14	1	3	1158	3	ZNF439	19	11979032	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86398	11979032	47149951	13375	36877											
ZNF69	7620	broad.mit.edu	37	chr19	12015652	12015652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttaatatgaacatcagagGtgacattggacacaaggcct	14	11	9	7	0	1	3	1	2	0	1	1	4	1	4	1	3	1	0	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015652G>A	ENST00000429654.2	+	4	580	c.440G>A	c.(439-441)gGt>gAt	p.G147D	ZNF69_ENST00000340180.5_Missense_Mutation_p.G133D			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	147						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AACATCAGAGGTGACATTGGA	0.413													A	12015652	G	A	12015652	3	1	364	1	0	0	0	0	1	0	0	0	18196	1261	44	2	412	2	ZNF69	19	12015652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36620	12015652	47113331	13376	36878											
ZNF69	7620	broad.mit.edu	37	chr19	12015805	12015806	+	Frame_Shift_Ins	INS	-	-	A																															tatgcttgtaaagaatgtggINSaaaaacttttatttcccatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12015805_12015806insA	ENST00000429654.2	+	4	733_734	c.593_594insA	c.(592-597)ggaaaafs	p.GK198fs	ZNF69_ENST00000340180.5_Intron			Q9UC07	ZNF69_HUMAN	zinc finger protein 69	198						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|large_intestine(1)|skin(2)	4				Lung(535;0.011)		AAAGAATGTGGAAAAACTTTTA	0.401													A	12015806	-	A	12015805	7	5	364	1	0	1	1	0	0	0	0	0	18196	1189	41	0		0	ZNF69	19	12015805	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	153	12015805	47113178	13377	36879											
ZNF700	90592	broad.mit.edu	37	chr19	12059609	12059609	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaatgtaaacaatgtggtaAatcctttacttattctgcta	13	16	6	6	0	1	1	0	1	1	0	2	1	2	1	1	1	3	3	1	1	9	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12059609A>C	ENST00000482090.1	+	3	1134	c.716A>C	c.(715-717)aAa>aCa	p.K239T	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.K257T|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CAATGTGGTAAATCCTTTACT	0.353													C	12059609	A	C	12059609	3	2	364	1	0	0	0	0	1	0	0	0	18205	14	1	5	784	5	ZNF700	19	12059609	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	43804	12059609	47069374	13378	36880											
ZNF700	90592	broad.mit.edu	37	chr19	12060209	12060209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtgggaaagccttcagatCtacctcacaccttcgagtgc	10	10	9	12	1	3	1	2	0	1	1	4	3	3	2	3	1	3	0	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12060209C>T	ENST00000482090.1	+	3	1734	c.1316C>T	c.(1315-1317)tCt>tTt	p.S439F	ZNF763_ENST00000591944.1_Intron|ZNF763_ENST00000590798.1_Intron|ZNF700_ENST00000254321.5_Missense_Mutation_p.S457F|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						GCCTTCAGATCTACCTCACAC	0.483													T	12060209	C	T	12060209	3	4	364	1	0	0	0	0	1	0	0	0	18205	913	32	2	1384	2	ZNF700	19	12060209	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	600	12060209	47068774	13379	36881											
ZNF433	163059	broad.mit.edu	37	chr19	12126905	12126905	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactatggaatgctttcccAcattcattacatttataagg	13	14	6	8	0	1	0	1	0	0	0	2	2	2	1	1	2	3	1	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12126905A>C	ENST00000419886.2	-	5	963	c.672T>G	c.(670-672)tgT>tgG	p.C224W	ZNF433_ENST00000344980.6_Missense_Mutation_p.C259W|CTD-2006C1.2_ENST00000495324.1_RNA|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	259					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ATGCTTTCCCACATTCATTAC	0.408													C	12126905	A	C	12126905	3	2	364	1	0	0	0	0	1	0	0	0	18008	157	6	5	1248	5	ZNF433	19	12126905	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	66696	12126905	47002078	13380	36882											
ZNF136	7695	broad.mit.edu	37	chr19	12297985	12297985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaaaccctttcattctctGagttcatttcaagtgcatga	10	14	8	9	0	4	2	3	2	1	0	5	3	4	3	1	1	2	2	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12297985G>A	ENST00000343979.4	+	4	932	c.792G>A	c.(790-792)ctG>ctA	p.L264L	ZNF136_ENST00000398616.2_Silent_p.L198L	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	264					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						TTCATTCTCTGAGTTCATTTC	0.393													A	12297985	G	A	12297985	2	1	364	1	0	0	0	0	0	0	0	1	17827	1277	45	2		2	ZNF136	19	12297985	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171080	12297985	46830998	13381	36883											
ZNF136	7695	broad.mit.edu	37	chr19	12298441	12298441	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaagaactcacactggAgagaaaccttatgtatgtaa	17	9	8	7	0	1	3	1	1	0	2	1	5	1	4	1	1	2	2	1	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12298441A>G	ENST00000343979.4	+	4	1388	c.1248A>G	c.(1246-1248)ggA>ggG	p.G416G	ZNF136_ENST00000398616.2_Silent_p.G350G	NM_003437.3	NP_003428.1	P52737	ZN136_HUMAN	zinc finger protein 136	416					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			NS(1)|biliary_tract(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	18						CTCACACTGGAGAGAAACCTT	0.363													G	12298441	A	G	12298441	2	3	364	1	0	0	0	0	0	0	0	1	17827	291	11	3		3	ZNF136	19	12298441	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	456	12298441	46830542	13382	36884											
ZNF44	51710	broad.mit.edu	37	chr19	12383465	12383465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaatgctttcctgcattgCttacattcatatggcttctc	9	16	6	10	0	2	1	1	0	1	1	4	1	3	1	1	1	4	4	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383465C>T	ENST00000356109.5	-	5	1867	c.1749G>A	c.(1747-1749)aaG>aaA	p.K583K	ZNF44_ENST00000355684.5_Silent_p.K535K	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCCTGCATTGCTTACATTCAT	0.408													T	12383465	C	T	12383465	2	4	364	1	0	0	0	0	0	0	0	1	18013	796	28	2		2	ZNF44	19	12383465	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85024	12383465	46745518	13383	36885											
ZNF44	51710	broad.mit.edu	37	chr19	12383810	12383810	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgcttgcattcataGggtttctctccagtgtgagt	7	15	9	10	0	2	1	1	1	1	0	4	1	3	1	2	1	2	3	2	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383810G>T	ENST00000356109.5	-	5	1522	c.1404C>A	c.(1402-1404)ccC>ccA	p.P468P	ZNF44_ENST00000355684.5_Silent_p.P420P	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	468					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TGCATTCATAGGGTTTCTCTC	0.433													T	12383810	G	T	12383810	2	4	364	1	0	0	0	0	0	0	0	1	18013	987	35	4		4	ZNF44	19	12383810	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	345	12383810	46745173	13384	36886											
ZNF44	51710	broad.mit.edu	37	chr19	12383872	12383872	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggagaatcaaaggcttTcccacatactgtgcatttat	13	12	7	9	0	1	1	1	0	0	1	2	2	2	1	1	2	2	2	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12383872T>C	ENST00000356109.5	-	5	1460	c.1342A>G	c.(1342-1344)Aaa>Gaa	p.K448E	ZNF44_ENST00000355684.5_Missense_Mutation_p.K400E	NM_001164276.1	NP_001157748.1	P15621	ZNF44_HUMAN	zinc finger protein 44	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCAAAGGCTTTCCCACATACT	0.438													C	12383872	T	C	12383872	3	2	364	1	0	0	0	0	1	0	0	0	18013	1792	62	3	653	3	ZNF44	19	12383872	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62	12383872	46745111	13385	36887											
ZNF442	79973	broad.mit.edu	37	chr19	12460635	12460635	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgagttttttcatgtccTcgaaggaaacgagaacgagt	11	12	12	6	3	1	2	1	1	0	1	3	6	2	3	1	1	2	1	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12460635T>C	ENST00000242804.4	-	6	2346	c.1764A>G	c.(1762-1764)cgA>cgG	p.R588R	ZNF442_ENST00000438182.1_Silent_p.R519R	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	588					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTCATGTCCTCGAAGGAAAC	0.428													C	12460635	T	C	12460635	2	2	364	1	0	0	0	0	0	0	0	1	18016	1538	54	3		3	ZNF442	19	12460635	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	76763	12460635	46668348	13386	36888											
ZNF442	79973	broad.mit.edu	37	chr19	12461740	12461741	+	Frame_Shift_Ins	INS	-	-	A																															catacgaaataaactaggccINSaaaaaaaggctttcccacac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12461740_12461741insA	ENST00000242804.4	-	6	1240_1241	c.658_659insT	c.(658-660)tggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Ins_p.W151fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TAAACTAGGCCAAAAAAAGGCT	0.401													A	12461741	-	A	12461740	7	5	364	1	0	1	1	0	0	0	0	0	18016	595	21	0	1228	0	ZNF442	19	12461740	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1105	12461740	46667243	13387	36889											
ZNF442	79973	broad.mit.edu	37	chr19	12463807	12463807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatgtcatttttacctataCagtccaggttcctaatggtt	10	17	6	8	0	1	0	1	0	0	0	3	0	3	0	3	2	2	2	3	2	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12463807C>T	ENST00000242804.4	-	4	782	c.200G>A	c.(199-201)tGt>tAt	p.C67Y	ZNF442_ENST00000438182.1_Intron	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	67	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TTTACCTATACAGTCCAGGTT	0.418													T	12463807	C	T	12463807	3	4	364	1	0	0	0	0	1	0	0	0	18016	478	17	2	1695	2	ZNF442	19	12463807	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2067	12463807	46665176	13388	36890											
ZNF799	90576	broad.mit.edu	37	chr19	12501583	12501583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcgtagaaagcaagtgagCcaagagaatgctttcccaca	14	8	10	9	1	0	3	0	1	0	2	2	4	1	3	2	0	3	3	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12501583C>T	ENST00000419318.1	-	4	2282	c.1533G>A	c.(1531-1533)tgG>tgA	p.W511*	ZNF799_ENST00000430385.3_Nonsense_Mutation_p.W543*|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	543					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						AGCAAGTGAGCCAAGAGAATG	0.398													T	12501583	C	T	12501583	4	4	364	1	0	0	0	0	0	1	0	0	18265	740	26	2	306	2	ZNF799	19	12501583	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37776	12501583	46627400	13389	36891											
ZNF799	90576	broad.mit.edu	37	chr19	12502896	12502896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgacttctccactcatacGgctttcatatggacctactc	9	13	6	13	1	3	1	2	1	1	0	5	3	3	2	2	2	2	1	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12502896G>A	ENST00000419318.1	-	4	969	c.220C>T	c.(220-222)Cgt>Tgt	p.R74C	CTD-3105H18.16_ENST00000595562.1_Missense_Mutation_p.R106C|ZNF799_ENST00000430385.3_Missense_Mutation_p.R106C|CTD-3105H18.14_ENST00000435033.1_Intron			Q96GE5	ZN799_HUMAN	zinc finger protein 799	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CCACTCATACGGCTTTCATAT	0.413													A	12502896	G	A	12502896	3	1	364	1	0	0	0	0	1	0	0	0	18265	1116	39	1	1619	1	ZNF799	19	12502896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1313	12502896	46626087	13390	36892											
ZNF799	90576	broad.mit.edu	37	chr19	12503017	12503017	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaatctctctaacatacgAcatctgtaaaaaatgggaaa	19	9	5	8	1	3	0	0	0	3	0	4	2	3	1	0	1	2	1	0	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12503017A>G	ENST00000419318.1	-	4	848	c.99T>C	c.(97-99)tgT>tgC	p.C33C	CTD-3105H18.16_ENST00000595562.1_Silent_p.C65C|ZNF799_ENST00000430385.3_Silent_p.C65C|CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000595766.1_3'UTR			Q96GE5	ZN799_HUMAN	zinc finger protein 799	65	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						CTAACATACGACATCTGTAAA	0.318													G	12503017	A	G	12503017	2	3	364	1	0	0	0	0	0	0	0	1	18265	273	10	3		3	ZNF799	19	12503017	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121	12503017	46625966	13391	36893											
ZNF443	10224	broad.mit.edu	37	chr19	12542575	12542575	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgcgtatctggcttctcTccacattcatgatactcatg	8	16	6	11	1	4	1	2	1	2	0	6	1	5	1	1	1	2	2	1	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12542575T>C	ENST00000301547.5	-	4	608	c.411A>G	c.(409-411)ggA>ggG	p.G137G	CTD-3105H18.16_ENST00000595562.1_Intron	NM_005815.4	NP_005806	Q9Y2A4	ZN443_HUMAN	zinc finger protein 443	137					induction of apoptosis|regulation of transcription, DNA-dependent|response to stress|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|pancreas(1)|prostate(1)	28						CTGGCTTCTCTCCACATTCAT	0.418													C	12542575	T	C	12542575	2	2	364	1	0	0	0	0	0	0	0	1	18017	1538	54	3		3	ZNF443	19	12542575	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39558	12542575	46586408	13392	36894											
ZNF564	163050	broad.mit.edu	37	chr19	12638021	12638021	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatccccagtgtgcctaaTcatatgactttgaaaatttg	11	14	6	10	0	1	2	1	2	0	0	3	2	3	2	4	0	1	0	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638021T>A	ENST00000339282.7	-	4	1097	c.901A>T	c.(901-903)Att>Ttt	p.I301F	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564											endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						GTGTGCCTAATCATATGACTT	0.383													A	12638021	T	A	12638021	3	1	364	1	0	0	0	0	1	0	0	0	18096	1435	50	5	764	5	ZNF564	19	12638021	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	95446	12638021	46490962	13393	36895											
ZNF564	163050	broad.mit.edu	37	chr19	12638453	12638453	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgagttctttcatgtcttcGaaaggattgacaagaactga	12	13	10	6	1	3	4	1	3	2	1	4	6	3	5	0	1	1	1	0	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12638453G>A	ENST00000339282.7	-	4	665	c.469C>T	c.(469-471)Cga>Tga	p.R157*	CTD-2192J16.20_ENST00000593682.1_3'UTR|ZNF709_ENST00000428311.1_Intron	NM_144976.3	NP_659413.1			zinc finger protein 564									p.R157*(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18						TCATGTCTTCGAAAGGATTGA	0.418													A	12638453	G	A	12638453	4	1	364	1	0	0	0	0	0	1	0	0	18096	1066	37	1	1196	1	ZNF564	19	12638453	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	432	12638453	46490530	13394	36896											
ZNF490	57474	broad.mit.edu	37	chr19	12719982	12719982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcacttacagtttgagtcTtgatgctttgtccatggtgt	6	18	9	8	0	2	2	1	2	2	0	4	2	3	2	1	1	2	2	1	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12719982T>C	ENST00000311437.6	-	2	274	c.152A>G	c.(151-153)aAg>aGg	p.K51R	ZNF490_ENST00000465656.1_5'UTR	NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	51					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						AGTTTGAGTCTTGATGCTTTG	0.423													C	12719982	T	C	12719982	3	2	364	1	0	0	0	0	1	0	0	0	18042	1609	56	3	1453	3	ZNF490	19	12719982	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	81529	12719982	46409001	13395	36897											
ZNF791	163049	broad.mit.edu	37	chr19	12735514	12735514	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaacacaaaaaccaaggaCgaaatctaaggtgagttgca	19	6	8	8	1	2	1	1	1	1	0	2	3	2	2	1	2	3	2	1	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12735514C>T	ENST00000343325.4	+	3	343	c.181C>T	c.(181-183)Cga>Tga	p.R61*	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_Intron|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Nonsense_Mutation_p.R29*	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	61	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AAACCAAGGACGAAATCTAAG	0.363													T	12735514	C	T	12735514	4	4	364	1	0	0	0	0	0	1	0	0	18262	528	19	1	191	1	ZNF791	19	12735514	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15532	12735514	46393469	13396	36898											
ZNF791	163049	broad.mit.edu	37	chr19	12738638	12738638	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagactgccggagtaaaaCcatatgagtgtactatctgt	14	10	10	7	1	1	3	0	1	1	2	1	4	1	4	2	1	3	2	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738638C>A	ENST00000343325.4	+	4	457	c.295C>A	c.(295-297)Cca>Aca	p.P99T	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.P67T	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						CGGAGTAAAACCATATGAGTG	0.453													A	12738638	C	A	12738638	3	1	364	1	0	0	0	0	1	0	0	0	18262	507	18	4	309	4	ZNF791	19	12738638	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3124	12738638	46390345	13397	36899											
ZNF791	163049	broad.mit.edu	37	chr19	12738655	12738655	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatatgagtgtactatCtgtggaaaagccttcatgcg	13	11	9	8	1	2	1	1	1	1	0	2	2	2	2	2	1	4	1	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738655C>A	ENST00000343325.4	+	4	474	c.312C>A	c.(310-312)atC>atA	p.I104I	ZNF791_ENST00000540038.1_5'UTR|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.I72I	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGTGTACTATCTGTGGAAAAG	0.433													A	12738655	C	A	12738655	2	1	364	1	0	0	0	0	0	0	0	1	18262	903	32	4		4	ZNF791	19	12738655	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	12738655	46390328	13398	36900											
ZNF791	163049	broad.mit.edu	37	chr19	12738674	12738674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggaaaagccttcatgCgtctctcatcccttactaga	9	13	7	12	1	4	1	2	0	2	1	6	2	5	2	2	1	3	0	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12738674C>T	ENST00000343325.4	+	4	493	c.331C>T	c.(331-333)Cgt>Tgt	p.R111C	ZNF791_ENST00000540038.1_Missense_Mutation_p.R2C|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.R79C	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGCCTTCATGCGTCTCTCATC	0.423													T	12738674	C	T	12738674	3	4	364	1	0	0	0	0	1	0	0	0	18262	768	27	1	345	1	ZNF791	19	12738674	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19	12738674	46390309	13399	36901											
ZNF791	163049	broad.mit.edu	37	chr19	12739032	12739032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcagttgttccagttCtattcgagtacacgaaagaa	12	12	8	9	2	2	1	1	0	1	1	4	3	3	1	2	0	2	4	2	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12739032C>A	ENST00000343325.4	+	4	851	c.689C>A	c.(688-690)tCt>tAt	p.S230Y	ZNF791_ENST00000540038.1_Missense_Mutation_p.S121Y|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Missense_Mutation_p.S198Y	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	230					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						TGTTCCAGTTCTATTCGAGTA	0.428													A	12739032	C	A	12739032	3	1	364	1	0	0	0	0	1	0	0	0	18262	913	32	4	703	4	ZNF791	19	12739032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	358	12739032	46389951	13400	36902											
ZNF791	163049	broad.mit.edu	37	chr19	12740023	12740023	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagcaatgtggaaaagcCttcagtgtgtccacatcctt	11	12	9	9	0	1	0	1	0	0	0	3	1	3	1	3	1	2	2	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12740023C>A	ENST00000343325.4	+	4	1842	c.1680C>A	c.(1678-1680)gcC>gcA	p.A560A	ZNF791_ENST00000540038.1_Silent_p.A451A|ZNF791_ENST00000446165.1_3'UTR|ZNF490_ENST00000465656.1_Intron|ZNF791_ENST00000458122.3_Silent_p.A528A	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	560					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						GTGGAAAAGCCTTCAGTGTGT	0.343													A	12740023	C	A	12740023	2	1	364	1	0	0	0	0	0	0	0	1	18262	668	24	4		4	ZNF791	19	12740023	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	991	12740023	46388960	13401	36903											
MAN2B1	4125	broad.mit.edu	37	chr19	12760167	12760167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagctaccgtgatgtaaatCcgggtgttgactggatagta	11	11	13	6	2	0	3	0	2	0	1	1	4	1	4	2	2	2	4	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12760167C>T	ENST00000456935.2	-	19	2383	c.2343G>A	c.(2341-2343)cgG>cgA	p.R781R	MAN2B1_ENST00000221363.4_Silent_p.R780R	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	781					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGATGTAAATCCGGGTGTTGA	0.572													T	12760167	C	T	12760167	2	4	364	1	0	0	0	0	0	0	0	1	9291	842	30	2		2	MAN2B1	19	12760167	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20144	12760167	46368816	13402	36904											
MAN2B1	4125	broad.mit.edu	37	chr19	12762982	12762982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaccttcaccaggtggatCtgagcccagcggctcacagg	8	7	12	14	1	3	2	2	2	1	0	3	3	3	3	3	4	2	1	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12762982C>T	ENST00000456935.2	-	16	2071	c.2031G>A	c.(2029-2031)caG>caA	p.Q677Q	MAN2B1_ENST00000221363.4_Silent_p.Q676Q	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	677					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCAGGTGGATCTGAGCCCAGC	0.557													T	12762982	C	T	12762982	2	4	364	1	0	0	0	0	0	0	0	1	9291	912	32	2		2	MAN2B1	19	12762982	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2815	12762982	46366001	13403	36905											
MAN2B1	4125	broad.mit.edu	37	chr19	12776319	12776319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggatgtactgcacaccggCgtgctggatgtcattcttga	8	11	12	10	2	2	1	1	1	1	0	2	3	2	3	1	3	3	3	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12776319C>T	ENST00000456935.2	-	3	323	c.283G>A	c.(283-285)Gcc>Acc	p.A95T	MAN2B1_ENST00000221363.4_Missense_Mutation_p.A95T|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.A92T	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	95					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						TGCACACCGGCGTGCTGGATG	0.552													T	12776319	C	T	12776319	3	4	364	1	0	0	0	0	1	0	0	0	9291	768	27	1	2840	1	MAN2B1	19	12776319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13337	12776319	46352664	13404	36906											
TNPO2	30000	broad.mit.edu	37	chr19	12812258	12812258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaacttggtctttgaagcCgtggagaatctgtggggagg	8	10	15	8	1	2	2	0	1	2	1	2	4	2	3	2	5	2	0	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12812258C>T	ENST00000425528.1	-	25	2953	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S	TNPO2_ENST00000441499.1_Missense_Mutation_p.G856S|TNPO2_ENST00000450764.2_Missense_Mutation_p.G856S|TNPO2_ENST00000356861.5_Missense_Mutation_p.G856S|TNPO2_ENST00000588216.1_Missense_Mutation_p.G856S|TNPO2_ENST00000592287.1_Missense_Mutation_p.G866S			O14787	TNPO2_HUMAN	transportin 2	866					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTGAAGCCGTGGAGAATC	0.592													T	12812258	C	T	12812258	3	4	364	1	0	0	0	0	1	0	0	0	16436	652	23	1	101	1	TNPO2	19	12812258	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35939	12812258	46316725	13405	36907											
TNPO2	30000	broad.mit.edu	37	chr19	12821552	12821552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctcccggaagacatTggcgaggacgtccagtgcag	9	7	13	12	3	0	1	0	0	0	1	3	4	3	3	3	3	1	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12821552T>C	ENST00000425528.1	-	13	1510	c.1153A>G	c.(1153-1155)Aat>Gat	p.N385D	TNPO2_ENST00000441499.1_Missense_Mutation_p.N385D|TNPO2_ENST00000450764.2_Missense_Mutation_p.N385D|TNPO2_ENST00000356861.5_Missense_Mutation_p.N385D|TNPO2_ENST00000588216.1_Missense_Mutation_p.N385D|TNPO2_ENST00000592287.1_Missense_Mutation_p.N385D			O14787	TNPO2_HUMAN	transportin 2	385					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CGGAAGACATTGGCGAGGACG	0.652													C	12821552	T	C	12821552	3	2	364	1	0	0	0	0	1	0	0	0	16436	1812	63	3	1592	3	TNPO2	19	12821552	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9294	12821552	46307431	13406	36908											
TNPO2	30000	broad.mit.edu	37	chr19	12822220	12822220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcgtgacttgtggaagCgtggcttgatgtcctgctca	5	12	14	10	3	1	2	1	2	0	0	2	3	2	3	2	2	3	2	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12822220C>T	ENST00000425528.1	-	12	1364	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H	TNPO2_ENST00000441499.1_Missense_Mutation_p.R336H|TNPO2_ENST00000450764.2_Missense_Mutation_p.R336H|TNPO2_ENST00000356861.5_Missense_Mutation_p.R336H|TNPO2_ENST00000589956.1_5'UTR|TNPO2_ENST00000588216.1_Missense_Mutation_p.R336H|TNPO2_ENST00000592287.1_Missense_Mutation_p.R336H			O14787	TNPO2_HUMAN	transportin 2	336					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity	p.R336H(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTTGTGGAAGCGTGGCTTGAT	0.617													T	12822220	C	T	12822220	3	4	364	1	0	0	0	0	1	0	0	0	16436	768	27	1	1742	1	TNPO2	19	12822220	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	668	12822220	46306763	13407	36909											
HOOK2	29911	broad.mit.edu	37	chr19	12883718	12883718	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttctgacacaggatgCgccaggacctggggagaagg	9	7	15	10	1	2	2	0	1	2	1	2	5	2	4	2	5	2	1	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12883718C>T	ENST00000264827.5	-	5	434	c.264G>A	c.(262-264)gcG>gcA	p.A88A	HOOK2_ENST00000589965.1_Intron|HOOK2_ENST00000397668.3_Silent_p.A88A	NM_001100176.1	NP_001093646.1	Q96ED9	HOOK2_HUMAN	hook microtubule-tethering protein 2	88	Required for localization to the centrosome and induction of aggresome formation.|Sufficient for interaction with microtubules.				early endosome to late endosome transport|endocytosis|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|protein transport	centrosome|FHF complex|microtubule	identical protein binding|microtubule binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(5)|skin(1)	20						ACACAGGATGCGCCAGGACCT	0.592													T	12883718	C	T	12883718	2	4	364	1	0	0	0	0	0	0	0	1	7338	755	27	1		1	HOOK2	19	12883718	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61498	12883718	46245265	13408	36910											
MAST1	22983	broad.mit.edu	37	chr19	12962830	12962830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattatcatctcacgccctgCgaggctgctggagtgcctgg	6	11	12	12	2	2	0	2	0	1	0	3	2	2	1	2	3	3	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12962830C>T	ENST00000251472.4	+	8	896	c.857C>T	c.(856-858)gCg>gTg	p.A286V	MAST1_ENST00000591495.1_Missense_Mutation_p.A282V	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	286					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACGCCCTGCGAGGCTGCTG	0.612													T	12962830	C	T	12962830	3	4	364	1	0	0	0	0	1	0	0	0	9399	768	27	1	887	1	MAST1	19	12962830	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79112	12962830	46166153	13409	36911											
MAST1	22983	broad.mit.edu	37	chr19	12963039	12963039	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatcatccgccagctgggCctcacccgtgacccctttcc	6	9	7	19	2	2	1	2	1	0	0	4	1	4	1	7	1	2	1	7	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:12963039C>A	ENST00000251472.4	+	9	1026	c.987C>A	c.(985-987)ggC>ggA	p.G329G	MAST1_ENST00000591495.1_Silent_p.G325G	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	329					cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						GCCAGCTGGGCCTCACCCGTG	0.672													A	12963039	C	A	12963039	2	1	364	1	0	0	0	0	0	0	0	1	9399	726	26	4		4	MAST1	19	12963039	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209	12963039	46165944	13410	36912											
GCDH	2639	broad.mit.edu	37	chr19	13008660	13008660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacgccatgaacctggaggCcgtgaacacctacgaaggta	12	5	12	12	3	0	2	0	2	0	0	0	4	0	3	4	3	3	2	4	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13008660C>T	ENST00000222214.5	+	11	1437	c.1226C>T	c.(1225-1227)gCc>gTc	p.A409V	GCDH_ENST00000457854.1_Missense_Mutation_p.A409V|GCDH_ENST00000422947.2_Missense_Mutation_p.A365V|GCDH_ENST00000591470.1_Missense_Mutation_p.A409V			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	409					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						AACCTGGAGGCCGTGAACACC	0.632													T	13008660	C	T	13008660	3	4	364	1	0	0	0	0	1	0	0	0	6341	739	26	2	1264	2	GCDH	19	13008660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45621	13008660	46120323	13411	36913											
CALR	811	broad.mit.edu	37	chr19	13051399	13051399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccctgatgctaagaaGcccgaggactgggatgaaga	12	6	13	10	1	0	5	0	3	0	2	0	8	0	7	3	2	2	1	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13051399G>A	ENST00000316448.5	+	6	820	c.747G>A	c.(745-747)aaG>aaA	p.K249K		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	249	4 X approximate repeats.|P-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGCTAAGAAGCCCGAGGACT	0.572													A	13051399	G	A	13051399	2	1	364	1	0	0	0	0	0	0	0	1	2618	962	34	2		2	CALR	19	13051399	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42739	13051399	46077584	13412	36914											
CALR	811	broad.mit.edu	37	chr19	13054427	13054427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagtttggcaacgagaCgtggggcgtaacaaaggtga	12	7	17	5	3	0	3	0	2	0	1	0	5	0	4	0	5	2	3	0	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13054427C>T	ENST00000316448.5	+	8	1110	c.1037C>T	c.(1036-1038)aCg>aTg	p.T346M		NM_004343.3	NP_004334.1	P27797	CALR_HUMAN	calreticulin	346	C-domain.				cell cycle arrest|cellular senescence|glucocorticoid receptor signaling pathway|negative regulation of neuron differentiation|negative regulation of retinoic acid receptor signaling pathway|negative regulation of steroid hormone receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of translation|peptide antigen assembly with MHC class I protein complex|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of phagocytosis|post-translational protein modification|protein export from nucleus|protein maturation by protein folding|protein N-linked glycosylation via asparagine|protein stabilization|regulation of apoptosis|sequestering of calcium ion	cytosol|endoplasmic reticulum lumen|extracellular space|MHC class I peptide loading complex|nucleus|perinuclear region of cytoplasm|polysome|proteinaceous extracellular matrix	androgen receptor binding|calcium ion binding|chaperone binding|complement component C1q binding|DNA binding|integrin binding|mRNA binding|protein binding involved in protein folding|sugar binding|ubiquitin protein ligase binding|unfolded protein binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(1)	10					Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCAACGAGACGTGGGGCGTA	0.602													T	13054427	C	T	13054427	3	4	364	1	0	0	0	0	1	0	0	0	2618	536	19	1	1067	1	CALR	19	13054427	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3028	13054427	46074556	13413	36915											
RAD23A	5886	broad.mit.edu	37	chr19	13059141	13059141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcccatcagaggaatccGcccccacgacgtccccagag	11	3	10	17	3	1	3	1	0	0	3	3	5	3	4	6	1	1	0	6	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13059141G>A	ENST00000586534.1	+	3	446	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	RAD23A_ENST00000541222.1_5'UTR|RAD23A_ENST00000588826.2_3'UTR|RAD23A_ENST00000316856.3_Missense_Mutation_p.A129T|RAD23A_ENST00000592268.1_Missense_Mutation_p.A129T			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	129					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						AGAGGAATCCGCCCCCACGAC	0.642								Nucleotide excision repair (NER)					A	13059141	G	A	13059141	3	1	364	1	0	0	0	0	1	0	0	0	13070	1087	38	1	395	1	RAD23A	19	13059141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4714	13059141	46069842	13414	36916											
RAD23A	5886	broad.mit.edu	37	chr19	13063631	13063631	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccccgcagatgaactacatCcaggtgacgccgcaggagaa	12	4	12	13	3	0	4	0	2	0	2	1	5	1	4	4	2	2	2	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13063631C>A	ENST00000586534.1	+	8	1003	c.942C>A	c.(940-942)atC>atA	p.I314I	RAD23A_ENST00000541222.1_Silent_p.I149I|RAD23A_ENST00000316856.3_Silent_p.I313I|RAD23A_ENST00000592268.1_Intron			P54725	RD23A_HUMAN	RAD23 homolog A (S. cerevisiae)	314					interspecies interaction between organisms|nucleotide-excision repair|positive regulation of viral genome replication|proteasomal ubiquitin-dependent protein catabolic process|regulation of proteasomal ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	damaged DNA binding|polyubiquitin binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12						TGAACTACATCCAGGTGACGC	0.622								Nucleotide excision repair (NER)					A	13063631	C	A	13063631	2	1	364	1	0	0	0	0	0	0	0	1	13070	845	30	4		4	RAD23A	19	13063631	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4490	13063631	46065352	13415	36917											
NFIX	4784	broad.mit.edu	37	chr19	13184238	13184238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctttcccctcttcagggCacttaagtttccaggactgt	7	14	7	13	0	2	0	1	0	1	0	5	1	5	1	4	2	0	2	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184238C>T	ENST00000358552.3	+	3	622	c.622C>T	c.(622-624)Cac>Tac	p.H208Y	NFIX_ENST00000360105.4_Missense_Mutation_p.H212Y|NFIX_ENST00000587760.1_Missense_Mutation_p.H201Y|NFIX_ENST00000592199.1_Missense_Mutation_p.H209Y|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000585575.1_Missense_Mutation_p.H201Y|NFIX_ENST00000397661.2_Missense_Mutation_p.H209Y|NFIX_ENST00000587260.1_Missense_Mutation_p.H208Y|NFIX_ENST00000588228.1_Missense_Mutation_p.H162Y			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	209					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			CTCTTCAGGGCACTTAAGTTT	0.532													T	13184238	C	T	13184238	3	4	364	1	0	0	0	0	1	0	0	0	10450	710	25	2	639	2	NFIX	19	13184238	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120607	13184238	45944745	13416	36918											
NFIX	4784	broad.mit.edu	37	chr19	13184288	13184288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggggtctggaatgtgacGgagctggtgagagtatcaca	9	9	16	7	2	2	2	1	2	1	1	3	5	3	4	1	5	1	2	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184288G>A	ENST00000358552.3	+	3	672	c.672G>A	c.(670-672)acG>acA	p.T224T	NFIX_ENST00000360105.4_Silent_p.T228T|NFIX_ENST00000587760.1_Silent_p.T217T|NFIX_ENST00000592199.1_Silent_p.T225T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000585575.1_Silent_p.T217T|NFIX_ENST00000397661.2_Silent_p.T225T|NFIX_ENST00000587260.1_Silent_p.T224T|NFIX_ENST00000588228.1_Silent_p.T178T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	225					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGAATGTGACGGAGCTGGTGA	0.532													A	13184288	G	A	13184288	2	1	364	1	0	0	0	0	0	0	0	1	10450	1103	39	1		1	NFIX	19	13184288	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	13184288	45944695	13417	36919											
NFIX	4784	broad.mit.edu	37	chr19	13184823	13184823	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggcggcggtccatcacCtcccctccttccaccaggta	5	8	10	18	2	1	0	1	0	0	0	5	0	5	0	7	5	0	1	7	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13184823C>A	ENST00000358552.3	+	4	798	c.798C>A	c.(796-798)acC>acA	p.T266T	NFIX_ENST00000360105.4_Silent_p.T270T|NFIX_ENST00000587760.1_Silent_p.T259T|NFIX_ENST00000592199.1_Silent_p.T267T|NFIX_ENST00000588680.1_3'UTR|NFIX_ENST00000585575.1_Silent_p.T259T|NFIX_ENST00000397661.2_Silent_p.T267T|NFIX_ENST00000587260.1_Silent_p.T266T|NFIX_ENST00000588228.1_Silent_p.T220T			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	267					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			GGTCCATCACCTCCCCTCCTT	0.622													A	13184823	C	A	13184823	2	1	364	1	0	0	0	0	0	0	0	1	10450	668	24	4		4	NFIX	19	13184823	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	535	13184823	45944160	13418	36920											
CACNA1A	773	broad.mit.edu	37	chr19	13346039	13346039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacctgcatcccaatgatgGcatagatgaagaagagcatg	14	8	10	9	0	1	5	1	2	0	3	2	5	2	5	2	1	2	3	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13346039G>A	ENST00000360228.5	-	33	5116	c.5117C>T	c.(5116-5118)gCc>gTc	p.A1706V	CACNA1A_ENST00000573710.2_Missense_Mutation_p.A1707V|CACNA1A_ENST00000574822.1_5'UTR	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	1707					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	CCCAATGATGGCATAGATGAA	0.567											OREG0025293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	13346039	G	A	13346039	3	1	364	1	0	0	0	0	1	0	0	0	2564	1203	42	2	2564	2	CACNA1A	19	13346039	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	161216	13346039	45782944	13419	36921											
CCDC130	81576	broad.mit.edu	37	chr19	13865139	13865139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaagtactatcctccaGacttcaaccctgagaaggta	14	9	6	12	0	2	2	2	1	0	2	4	3	4	2	3	1	3	2	3	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13865139G>T	ENST00000586600.1	+	4	543	c.40G>T	c.(40-42)Gac>Tac	p.D14Y	CCDC130_ENST00000221554.8_Missense_Mutation_p.D14Y			P13994	CC130_HUMAN	coiled-coil domain containing 130	14					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CTATCCTCCAGACTTCAACCC	0.532													T	13865139	G	T	13865139	3	4	364	1	0	0	0	0	1	0	0	0	2792	942	33	4	46	4	CCDC130	19	13865139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	519100	13865139	45263844	13420	36922											
CCDC130	81576	broad.mit.edu	37	chr19	13873665	13873665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcgggtaccagaggaggCtgcccaggaccggcccatgt	8	4	15	14	3	0	1	0	0	0	1	0	3	0	3	5	5	2	2	5	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13873665C>A	ENST00000586600.1	+	11	1477	c.974C>A	c.(973-975)gCt>gAt	p.A325D	CCDC130_ENST00000221554.8_Missense_Mutation_p.A325D|CCDC130_ENST00000587019.1_3'UTR			P13994	CC130_HUMAN	coiled-coil domain containing 130	325					response to virus		protein binding			endometrium(2)|kidney(1)|large_intestine(3)|ovary(1)|skin(2)|urinary_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(19;6.02e-23)|Epithelial(5;2.58e-18)			CCAGAGGAGGCTGCCCAGGAC	0.701													A	13873665	C	A	13873665	3	1	364	1	0	0	0	0	1	0	0	0	2792	797	28	4	1008	4	CCDC130	19	13873665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8526	13873665	45255318	13421	36923											
ZSWIM4	65249	broad.mit.edu	37	chr19	13915803	13915803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcccaccaggtggagctgCggctgcccatctccgagacg	7	5	13	16	4	1	1	0	0	1	1	2	3	1	2	4	3	3	2	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13915803C>T	ENST00000254323.2	+	3	742	c.553C>T	c.(553-555)Cgg>Tgg	p.R185W		NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	185							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGTGGAGCTGCGGCTGCCCAT	0.642											OREG0025298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	13915803	C	T	13915803	3	4	364	1	0	0	0	0	1	0	0	0	18340	759	27	1	563	1	ZSWIM4	19	13915803	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42138	13915803	45213180	13422	36924											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941042	13941042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatcatgcagaactggtaTtccttattcacaccagtgga	13	12	7	9	0	2	1	2	0	0	1	3	2	3	2	2	2	2	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941042T>C	ENST00000254323.2	+	13	2337	c.2148T>C	c.(2146-2148)taT>taC	p.Y716Y	ZSWIM4_ENST00000440752.2_Silent_p.Y550Y	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	716							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			AGAACTGGTATTCCTTATTCA	0.602													C	13941042	T	C	13941042	2	2	364	1	0	0	0	0	0	0	0	1	18340	1500	52	3		3	ZSWIM4	19	13941042	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25239	13941042	45187941	13423	36925											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941548	13941548	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtccgatattctgcgccGctggactctctcggcgcccg	3	10	12	16	6	2	0	0	0	2	0	5	2	3	1	3	2	1	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:13941548G>A	ENST00000254323.2	+	13	2843	c.2654G>A	c.(2653-2655)cGc>cAc	p.R885H	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R719H	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	885							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ATTCTGCGCCGCTGGACTCTC	0.697													A	13941548	G	A	13941548	3	1	364	1	0	0	0	0	1	0	0	0	18340	1087	38	1	2704	1	ZSWIM4	19	13941548	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	506	13941548	45187435	13424	36926											
C19orf57	79173	broad.mit.edu	37	chr19	14000930	14000930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggggggctcctctgtctgGcttctccccttcagaatcaa	5	12	10	14	0	5	1	2	0	3	1	7	1	6	1	3	4	0	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14000930G>A	ENST00000454313.1	-	6	797	c.739C>T	c.(739-741)Cca>Tca	p.P247S	C19orf57_ENST00000346736.2_Missense_Mutation_p.P247S|C19orf57_ENST00000591586.1_Intron|C19orf57_ENST00000586783.1_Missense_Mutation_p.P247S			Q0VDD7	CS057_HUMAN	chromosome 19 open reading frame 57	247					multicellular organismal development		protein binding			breast(2)|kidney(1)|lung(3)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;2e-21)			CCTCTGTCTGGCTTCTCCCCT	0.632													A	14000930	G	A	14000930	3	1	364	1	0	0	0	0	1	0	0	0	1958	1203	42	2	1186	2	C19orf57	19	14000930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59382	14000930	45128053	13425	36927											
CC2D1A	54862	broad.mit.edu	37	chr19	14034193	14034193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactttgccctggtccagcgGcctggcccgggtctgtctca	3	10	13	15	2	2	0	1	0	2	0	4	1	3	0	4	4	2	0	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14034193G>A	ENST00000318003.7	+	15	1930	c.1689G>A	c.(1687-1689)cgG>cgA	p.R563R	CC2D1A_ENST00000589606.1_Silent_p.R563R	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	563					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGGTCCAGCGGCCTGGCCCGG	0.682													A	14034193	G	A	14034193	2	1	364	1	0	0	0	0	0	0	0	1	2752	1190	42	2		2	CC2D1A	19	14034193	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33263	14034193	45094790	13426	36928											
CC2D1A	54862	broad.mit.edu	37	chr19	14038837	14038837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctgtgccggcagctgtGcccacagtgagaccccccac	7	5	11	18	1	0	1	0	1	0	1	0	3	0	1	6	1	3	2	6	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14038837G>A	ENST00000318003.7	+	23	2689	c.2448G>A	c.(2446-2448)gtG>gtA	p.V816V	CC2D1A_ENST00000589606.1_Silent_p.V816V	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	816					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGGCAGCTGTGCCCACAGTGA	0.627													A	14038837	G	A	14038837	2	1	364	1	0	0	0	0	0	0	0	1	2752	1306	46	2		2	CC2D1A	19	14038837	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4644	14038837	45090146	13427	36929											
PODNL1	79883	broad.mit.edu	37	chr19	14047218	14047218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgtggaggttgagggttCgcaggccactgaggcgggac	6	9	19	7	2	0	2	0	2	0	0	1	4	0	4	1	6	0	4	1	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14047218C>T	ENST00000538517.2	-	3	540	c.296G>A	c.(295-297)cGa>cAa	p.R99Q	PODNL1_ENST00000339560.5_Missense_Mutation_p.R101Q|PODNL1_ENST00000538371.2_Missense_Mutation_p.R99Q|PODNL1_ENST00000254320.3_Missense_Mutation_p.E41K	NM_001146255.1	NP_001139727.1	Q6PEZ8	PONL1_HUMAN	podocan-like 1	172	Leu-rich.					proteinaceous extracellular matrix				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)	8			OV - Ovarian serous cystadenocarcinoma(19;5.26e-23)			GTTGAGGGTTCGCAGGCCACT	0.627													T	14047218	C	T	14047218	3	4	364	1	0	0	0	0	1	0	0	0	12256	884	31	1	1260	1	PODNL1	19	14047218	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8381	14047218	45081765	13428	36930											
IL27RA	9466	broad.mit.edu	37	chr19	14160031	14160031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagggacccccgccatagCgtggggagaggtcccaaggc	8	4	15	14	2	0	1	0	0	0	1	2	3	2	2	5	5	1	0	5	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14160031C>T	ENST00000263379.2	+	10	1432	c.1307C>T	c.(1306-1308)gCg>gTg	p.A436V		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	436	Fibronectin type-III 3.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CCCGCCATAGCGTGGGGAGAG	0.637											OREG0025303	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	14160031	C	T	14160031	3	4	364	1	0	0	0	0	1	0	0	0	7739	768	27	1	1345	1	IL27RA	19	14160031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112813	14160031	44968952	13429	36931											
LPHN1	22859	broad.mit.edu	37	chr19	14263606	14263606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgatacctgggtccctGtgtagtagcgggtgttgctt	4	12	15	10	2	0	0	0	0	0	0	1	1	1	0	3	3	3	4	3	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14263606G>A	ENST00000340736.6	-	20	3725	c.3428C>T	c.(3427-3429)aCa>aTa	p.T1143I	CTB-55O6.12_ENST00000588387.1_RNA|CTB-55O6.12_ENST00000588658.1_RNA|LPHN1_ENST00000361434.3_Missense_Mutation_p.T1138I	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1143					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CTGGGTCCCTGTGTAGTAGCG	0.622													A	14263606	G	A	14263606	3	1	364	1	0	0	0	0	1	0	0	0	8985	1377	48	2	1016	2	LPHN1	19	14263606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103575	14263606	44865377	13430	36932											
PKN1	5585	broad.mit.edu	37	chr19	14561175	14561175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgcatcgaagagctgcGgcaccacttccgagtggagc	8	6	14	13	4	0	1	0	0	0	1	2	4	1	2	2	2	4	4	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14561175G>A	ENST00000242783.6	+	5	821	c.656G>A	c.(655-657)cGg>cAg	p.R219Q	PKN1_ENST00000342216.4_Missense_Mutation_p.R225Q	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	219					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GAAGAGCTGCGGCACCACTTC	0.667													A	14561175	G	A	14561175	3	1	364	1	0	0	0	0	1	0	0	0	12056	1116	39	1	717	1	PKN1	19	14561175	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	297569	14561175	44567808	13431	36933											
PKN1	5585	broad.mit.edu	37	chr19	14581099	14581099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggactgggtgtgctgctctaCgagatgctggttggcgaggt	5	11	18	7	2	1	1	0	0	1	1	1	4	1	2	0	5	4	4	0	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14581099C>T	ENST00000242783.6	+	19	2583	c.2418C>T	c.(2416-2418)taC>taT	p.Y806Y	PKN1_ENST00000342216.4_Silent_p.Y812Y	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	806	Protein kinase.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGCTGCTCTACGAGATGCTGG	0.637													T	14581099	C	T	14581099	2	4	364	1	0	0	0	0	0	0	0	1	12056	547	19	1		1	PKN1	19	14581099	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19924	14581099	44547884	13432	36934											
EMR2	30817	broad.mit.edu	37	chr19	14877859	14877859	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcacgtgtagctgccgaGggtgttgacgcaggtgccgt	5	9	17	10	4	0	1	0	1	0	0	0	2	0	1	2	3	3	5	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14877859G>T	ENST00000315576.3	-	6	869	c.418C>A	c.(418-420)Ctc>Atc	p.L140I	EMR2_ENST00000594294.1_Missense_Mutation_p.L140I|EMR2_ENST00000392967.2_Missense_Mutation_p.L140I|EMR2_ENST00000353005.1_Intron|EMR2_ENST00000346057.1_Missense_Mutation_p.L140I|EMR2_ENST00000601345.1_Missense_Mutation_p.L140I|EMR2_ENST00000594076.1_Intron|EMR2_ENST00000392965.3_Missense_Mutation_p.L140I|EMR2_ENST00000353876.1_Intron|EMR2_ENST00000595839.1_Intron|EMR2_ENST00000596991.2_Missense_Mutation_p.L140I|EMR2_ENST00000392964.3_5'UTR	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	140	EGF-like 3; calcium-binding.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TAGCTGCCGAGGGTGTTGACG	0.582													T	14877859	G	T	14877859	3	4	364	1	0	0	0	0	1	0	0	0	5146	1000	35	4	2117	4	EMR2	19	14877859	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296760	14877859	44251124	13433	36935											
OR7C1	26664	broad.mit.edu	37	chr19	14910065	14910065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggccctcttcatgtccGtgttcctcaggctgtagatg	5	12	11	13	1	3	1	2	0	1	1	5	1	5	1	4	2	0	3	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14910065G>A	ENST00000248073.2	-	1	958	c.884C>T	c.(883-885)aCg>aTg	p.T295M	OR7A5_ENST00000601611.1_Intron	NM_198944.1	NP_945182.1	O76099	OR7C1_HUMAN	olfactory receptor, family 7, subfamily C, member 1	295					sensory perception of smell|spermatogenesis	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(2)|ovary(2)|prostate(1)	18						CTTCATGTCCGTGTTCCTCAG	0.517													A	14910065	G	A	14910065	3	1	364	1	0	0	0	0	1	0	0	0	11293	1145	40	1	80	1	OR7C1	19	14910065	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32206	14910065	44218918	13434	36936											
OR7A10	390892	broad.mit.edu	37	chr19	14952327	14952327	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacagatggccacaaaccgGtcataggccatcacggtcag	12	6	11	12	2	3	2	3	1	0	1	3	2	3	2	3	4	1	0	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952327G>A	ENST00000248058.1	-	1	362	c.363C>T	c.(361-363)gaC>gaT	p.D121D		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					CCACAAACCGGTCATAGGCCA	0.478													A	14952327	G	A	14952327	2	1	364	1	0	0	0	0	0	0	0	1	11290	1252	44	2		2	OR7A10	19	14952327	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42262	14952327	44176656	13435	36937											
OR7A10	390892	broad.mit.edu	37	chr19	14952390	14952390	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtaagaaaaagcacatCtgggtgatgcagcctgcata	16	7	11	7	0	1	3	0	1	1	2	1	3	1	3	1	1	4	4	1	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:14952390C>A	ENST00000248058.1	-	1	299	c.300G>T	c.(298-300)caG>caT	p.Q100H		NM_001005190.1	NP_001005190.1	O76100	OR7AA_HUMAN	olfactory receptor, family 7, subfamily A, member 10	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Q100H(1)		NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|stomach(1)	19	Ovarian(108;0.203)					AAAAGCACATCTGGGTGATGC	0.483													A	14952390	C	A	14952390	3	1	364	1	0	0	0	0	1	0	0	0	11290	912	32	4	633	4	OR7A10	19	14952390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63	14952390	44176593	13436	36938											
CCDC105	126402	broad.mit.edu	37	chr19	15133743	15133743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctggacgagctgctcGccacgcacaagaacctcagc	12	4	10	15	3	1	2	1	0	0	2	2	4	1	3	3	1	5	3	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15133743G>A	ENST00000292574.3	+	7	1394	c.1312G>A	c.(1312-1314)Gcc>Acc	p.A438T		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	438					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						CGAGCTGCTCGCCACGCACAA	0.632													A	15133743	G	A	15133743	3	1	364	1	0	0	0	0	1	0	0	0	2766	1087	38	1	1338	1	CCDC105	19	15133743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181353	15133743	43995240	13437	36939											
CASP14	23581	broad.mit.edu	37	chr19	15166060	15166060	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaacatacacagatgcCttgcacgtttattccacggt	11	11	6	13	2	0	1	0	0	0	1	2	1	2	1	3	1	4	2	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15166060C>A	ENST00000427043.3	+	5	803	c.495C>A	c.(493-495)gcC>gcA	p.A165A	CASP14_ENST00000221740.1_Silent_p.A165A	NM_012114.2	NP_036246.1	P31944	CASPE_HUMAN	caspase 14, apoptosis-related cysteine peptidase	165					apoptosis|cell differentiation|epidermis development|proteolysis	cytoplasm|nucleus	cysteine-type endopeptidase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(3)	26						ACACAGATGCCTTGCACGTTT	0.532													A	15166060	C	A	15166060	2	1	364	1	0	0	0	0	0	0	0	1	2696	668	24	4		4	CASP14	19	15166060	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32317	15166060	43962923	13438	36940											
ILVBL	10994	broad.mit.edu	37	chr19	15227253	15227253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctgccggtcggcttcccGcagctcctccacccagtctg	3	10	9	19	3	2	0	0	0	2	0	6	0	5	0	5	2	2	3	5	2	0	2	rs147018373	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15227253G>A	ENST00000263383.3	-	11	1406	c.1267C>T	c.(1267-1269)Cgg>Tgg	p.R423W	ILVBL_ENST00000534378.1_Missense_Mutation_p.R316W	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	423						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TCGGCTTCCCGCAGCTCCTCC	0.647													A	15227253	G	A	15227253	3	1	364	1	0	0	0	0	1	0	0	0	7773	1086	38	1	655	1	ILVBL	19	15227253	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61193	15227253	43901730	13439	36941											
ILVBL	10994	broad.mit.edu	37	chr19	15234030	15234030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaggccagggcctgctGtcactgccgccacgcccacc	5	6	13	17	2	1	1	1	1	0	0	1	1	1	1	6	3	2	1	6	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15234030G>A	ENST00000263383.3	-	4	501	c.362C>T	c.(361-363)aCa>aTa	p.T121I	ILVBL_ENST00000534378.1_Missense_Mutation_p.T14I|ILVBL_ENST00000531635.1_5'UTR	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	121						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						AGGGCCTGCTGTCACTGCCGC	0.612													A	15234030	G	A	15234030	3	1	364	1	0	0	0	0	1	0	0	0	7773	1377	48	2	1588	2	ILVBL	19	15234030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6777	15234030	43894953	13440	36942											
NOTCH3	4854	broad.mit.edu	37	chr19	15271598	15271598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgccccagtggtggtggCcatggccccagtggcagtgg	5	7	17	12	0	0	0	0	0	0	0	0	0	0	0	5	6	1	1	5	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15271598C>T	ENST00000263388.2	-	33	6916	c.6841G>A	c.(6841-6843)Gcc>Acc	p.A2281T		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2281					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGTGGTGGCCATGGCCCCA	0.672													T	15271598	C	T	15271598	3	4	364	1	0	0	0	0	1	0	0	0	10626	739	26	2	128	2	NOTCH3	19	15271598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37568	15271598	43857385	13441	36943											
NOTCH3	4854	broad.mit.edu	37	chr19	15291940	15291940	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctgaacgagttcacGccgtccacacaggtcccgcc	9	5	11	16	4	1	1	1	1	0	0	3	2	3	1	4	2	2	3	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15291940G>A	ENST00000263388.2	-	18	2901	c.2826C>T	c.(2824-2826)ggC>ggT	p.G942G		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	942	EGF-like 24.				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			acgagttcacgccgtccacac	0.677													A	15291940	G	A	15291940	2	1	364	1	0	0	0	0	0	0	0	1	10626	1074	38	1		1	NOTCH3	19	15291940	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20342	15291940	43837043	13442	36944											
NOTCH3	4854	broad.mit.edu	37	chr19	15303018	15303018	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtagccaggtgggcaggaGcagaggaagcgtccatcggg	9	5	19	8	2	0	1	0	0	0	1	2	3	1	3	2	6	3	3	2	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15303018G>A	ENST00000263388.2	-	4	507	c.432C>T	c.(430-432)tgC>tgT	p.C144C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	144	EGF-like 3.		C -> F (in CADASIL).|C -> S (in CADASIL).|C -> Y (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GTGGGCAGGAGCAGAGGAAGC	0.692													A	15303018	G	A	15303018	2	1	364	1	0	0	0	0	0	0	0	1	10626	963	34	2		2	NOTCH3	19	15303018	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11078	15303018	43825965	13443	36945											
AKAP8	10270	broad.mit.edu	37	chr19	15484809	15484809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctcccacgaggctgggccGtagctgtaggttgcgcctgt	4	9	15	13	3	0	0	0	0	0	0	1	1	1	0	4	3	2	5	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15484809G>A	ENST00000269701.2	-	4	219	c.159C>T	c.(157-159)taC>taT	p.Y53Y		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	53					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						AGGCTGGGCCGTAGCTGTAGG	0.622													A	15484809	G	A	15484809	2	1	364	1	0	0	0	0	0	0	0	1	457	1140	40	1		1	AKAP8	19	15484809	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	181791	15484809	43644174	13444	36946											
AKAP8L	26993	broad.mit.edu	37	chr19	15508576	15508576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgcctacgtacttaaaGtgttccttgtggaacttgct	7	16	10	8	1	0	0	0	0	0	0	1	1	1	1	2	2	5	3	2	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15508576G>T	ENST00000397410.5	-	10	1378	c.1248C>A	c.(1246-1248)caC>caA	p.H416Q	AKAP8L_ENST00000595879.1_5'UTR|AKAP8L_ENST00000595465.2_Missense_Mutation_p.H355Q	NM_014371.2	NP_055186.2	Q9ULX6	AKP8L_HUMAN	A kinase (PRKA) anchor protein 8-like							cytoplasm|nuclear matrix	DEAD/H-box RNA helicase binding|DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(2)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11						CGTACTTAAAGTGTTCCTTGT	0.517													T	15508576	G	T	15508576	3	4	364	1	0	0	0	0	1	0	0	0	458	1020	36	4	712	4	AKAP8L	19	15508576	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23767	15508576	43620407	13445	36947											
RASAL3	64926	broad.mit.edu	37	chr19	15575099	15575099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccgccccctgtgtgccagCggtaggaagtcagcggagag	8	5	15	13	3	1	1	1	0	0	1	1	3	1	2	4	3	3	1	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15575099C>T	ENST00000343625.7	-	2	156	c.71G>A	c.(70-72)cGc>cAc	p.R24H		NM_022904.1	NP_075055.1	Q86YV0	RASL3_HUMAN	RAS protein activator like 3						negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|skin(1)	18						TGTGTGCCAGCGGTAGGAAGT	0.711													T	15575099	C	T	15575099	3	4	364	1	0	0	0	0	1	0	0	0	13153	768	27	1	3032	1	RASAL3	19	15575099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66523	15575099	43553884	13446	36948											
CYP4F8	11283	broad.mit.edu	37	chr19	15728991	15728991	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggtggtgggcacaggaGaacattggagggcttctaga	9	10	17	5	0	1	2	0	0	1	2	1	4	1	3	0	6	1	2	0	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15728991G>T	ENST00000441682.2	+	0	407							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						GGGCACAGGAGAACATTGGAG	0.532													T	15728991	G	T	15728991	1	4	364	0	1	0	0	0	0	0	0	0	4224	957	33	4		4	CYP4F8	19	15728991	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	153892	15728991	43399992	13447	36949											
CYP4F12	66002	broad.mit.edu	37	chr19	15791247	15791247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaagtggagccgccaccGtcggatgctgacgcccgcct	7	6	13	15	5	0	2	0	2	0	0	1	4	0	4	5	2	2	1	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:15791247G>A	ENST00000550308.1	+	5	823	c.443G>A	c.(442-444)cGt>cAt	p.R148H	CYP4F12_ENST00000324632.10_Missense_Mutation_p.R148H	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					AGCCGCCACCGTCGGATGCTG	0.547													A	15791247	G	A	15791247	3	1	364	1	0	0	0	0	1	0	0	0	4220	1145	40	1	457	1	CYP4F12	19	15791247	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62256	15791247	43337736	13448	36950											
CYP4F11	57834	broad.mit.edu	37	chr19	16035646	16035646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgatgtgttcaaacAtgtccagtctggcgctgccc	7	11	12	11	1	2	2	1	2	1	0	3	2	3	2	2	2	2	3	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16035646A>G	ENST00000402119.4	-	5	998	c.572T>C	c.(571-573)aTg>aCg	p.M191T	CYP4F11_ENST00000326742.8_Missense_Mutation_p.M191T|CYP4F11_ENST00000591841.1_Intron|CYP4F11_ENST00000248041.8_Missense_Mutation_p.M191T	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GTGTTCAAACATGTCCAGTCT	0.532													G	16035646	A	G	16035646	3	3	364	1	0	0	0	0	1	0	0	0	4219	217	8	3	1034	3	CYP4F11	19	16035646	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	244399	16035646	43093337	13449	36951											
TPM4	7171	broad.mit.edu	37	chr19	16192856	16192856	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgcagatgagagtgagaGgtaaggacgctttgaatctg	12	9	15	5	1	1	4	0	3	1	3	1	7	1	5	0	2	2	4	0	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16192856G>A	ENST00000300933.4	+	2	526	c.266G>A	c.(265-267)aGa>aAa	p.R89K	TPM4_ENST00000538887.1_Splice_Site_p.R125K|TPM4_ENST00000344824.6_Splice_Site_p.R125K	NM_003290.2	NP_003281.1	P67936	TPM4_HUMAN	tropomyosin 4	89					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						GAGAGTGAGAGGTAAGGACGC	0.537			T	ALK	ALCL								A	16192856	G	A	16192856	5	1	364	1	0	0	0	0	0	0	1	0	16509	1014	35	2	520	2	TPM4	19	16192856	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157210	16192856	42936127	13450	36952											
HSH2D	84941	broad.mit.edu	37	chr19	16268152	16268152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggagagacccgccagaaaCtctggaggagcctcaaaatg	13	6	12	10	1	2	2	1	0	1	2	2	6	2	5	3	3	2	0	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16268152C>T	ENST00000593154.2	+	8	1138	c.607C>T	c.(607-609)Ctc>Ttc	p.L203F	HSH2D_ENST00000397372.4_Missense_Mutation_p.L114F|HSH2D_ENST00000253680.6_Missense_Mutation_p.L203F|HSH2D_ENST00000588246.1_Missense_Mutation_p.L203F	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	203						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						CCGCCAGAAACTCTGGAGGAG	0.552													T	16268152	C	T	16268152	3	4	364	1	0	0	0	0	1	0	0	0	7457	565	20	2	625	2	HSH2D	19	16268152	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	75296	16268152	42860831	13451	36953											
KLF2	10365	broad.mit.edu	37	chr19	16437757	16437757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccactaccgaaagcacacggGccaccggccattccagtgcc	10	4	9	18	3	0	0	0	0	0	0	1	1	1	0	7	2	3	1	7	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16437757G>A	ENST00000248071.5	+	3	1090	c.983G>A	c.(982-984)gGc>gAc	p.G328D	KLF2_ENST00000592003.1_Missense_Mutation_p.A56T	NM_016270.2	NP_057354.1	Q9Y5W3	KLF2_HUMAN	Kruppel-like factor 2	328					positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(3)|lung(1)|skin(1)	5						AAGCACACGGGCCACCGGCCA	0.652													A	16437757	G	A	16437757	3	1	364	1	0	0	0	0	1	0	0	0	8404	1203	42	2	993	2	KLF2	19	16437757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	169605	16437757	42691226	13452	36954											
CALR3	125972	broad.mit.edu	37	chr19	16591453	16591453	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgccccaggtggccttgccaAaattatctgcgtactcttca	8	11	8	14	2	3	0	1	0	2	0	3	0	3	0	4	2	3	1	4	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16591453A>C	ENST00000269881.3	-	8	1045	c.983T>G	c.(982-984)tTt>tGt	p.F328C	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	328	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						GGCCTTGCCAAAATTATCTGC	0.368													C	16591453	A	C	16591453	3	2	364	1	0	0	0	0	1	0	0	0	2619	14	1	5	179	5	CALR3	19	16591453	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	153696	16591453	42537530	13453	36955											
CALR3	125972	broad.mit.edu	37	chr19	16593275	16593275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgacctgccaaagctccaGgccaatggcaccaatgttct	12	8	8	13	0	1	1	0	1	1	0	2	1	2	1	5	2	2	3	5	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16593275G>A	ENST00000269881.3	-	7	966	c.904C>T	c.(904-906)Ctg>Ttg	p.L302L	CTD-3222D19.2_ENST00000409035.1_3'UTR|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	302	C-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CAAAGCTCCAGGCCAATGGCA	0.398													A	16593275	G	A	16593275	2	1	364	1	0	0	0	0	0	0	0	1	2619	991	35	2		2	CALR3	19	16593275	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1822	16593275	42535708	13454	36956											
C19orf44	84167	broad.mit.edu	37	chr19	16612323	16612323	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgaatcaaggcttcagcagCgctaacgtcagcgaggaaga	14	5	12	10	4	3	1	3	0	0	1	3	4	3	2	0	2	4	3	0	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16612323C>T	ENST00000221671.3	+	2	876	c.720C>T	c.(718-720)agC>agT	p.S240S	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Silent_p.S240S	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	240										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						GCTTCAGCAGCGCTAACGTCA	0.318													T	16612323	C	T	16612323	2	4	364	1	0	0	0	0	0	0	0	1	1946	767	27	1		1	C19orf44	19	16612323	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19048	16612323	42516660	13455	36957											
C19orf44	84167	broad.mit.edu	37	chr19	16614097	16614097	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaactcagtgtctttaaaGatggggcatgtcaagcttgt	11	13	10	7	0	4	1	3	0	1	1	4	1	4	1	0	2	2	2	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16614097G>T	ENST00000221671.3	+	3	1137	c.981G>T	c.(979-981)aaG>aaT	p.K327N	CTD-3222D19.2_ENST00000409035.1_Intron|C19orf44_ENST00000594035.1_Missense_Mutation_p.K327N	NM_032207.2	NP_115583.1	Q9H6X5	CS044_HUMAN	chromosome 19 open reading frame 44	327										endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	16						TGTCTTTAAAGATGGGGCATG	0.552													T	16614097	G	T	16614097	3	4	364	1	0	0	0	0	1	0	0	0	1946	933	33	4	987	4	C19orf44	19	16614097	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1774	16614097	42514886	13456	36958											
CHERP	10523	broad.mit.edu	37	chr19	16631278	16631278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggagcgggaggaagaacGccctcgactcttggatctgc	8	8	15	10	3	2	1	0	0	2	1	3	6	2	5	1	4	3	1	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16631278G>A	ENST00000546361.2	-	14	2393	c.2242C>T	c.(2242-2244)Cgt>Tgt	p.R748C	CTD-3222D19.2_ENST00000409035.1_Intron|CHERP_ENST00000198939.6_Missense_Mutation_p.R759C|CHERP_ENST00000544299.1_5'UTR|C19orf44_ENST00000221671.3_3'UTR	NM_006387.5	NP_006378.3	Q8IWX8	CHERP_HUMAN	calcium homeostasis endoplasmic reticulum protein	748	Arg-rich.				cellular calcium ion homeostasis|negative regulation of cell proliferation|nervous system development|RNA processing	endoplasmic reticulum|perinuclear region of cytoplasm	RNA binding	p.R748C(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|stomach(1)|urinary_tract(3)	24						GAGGAAGAACGCCCTCGACTC	0.622													A	16631278	G	A	16631278	3	1	364	1	0	0	0	0	1	0	0	0	3366	1087	38	1	524	1	CHERP	19	16631278	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17181	16631278	42497705	13457	36959											
SLC35E1	79939	broad.mit.edu	37	chr19	16664712	16664712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggcttgctggtttgcatcGtacttggtctgtgccagaaa	6	14	12	9	1	1	1	0	0	1	1	2	1	1	1	1	3	4	5	1	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16664712G>A	ENST00000595753.1	-	6	1028	c.1011C>T	c.(1009-1011)taC>taT	p.Y337Y	CTD-3222D19.2_ENST00000409035.1_3'UTR	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	337					transport	integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						GGTTTGCATCGTACTTGGTCT	0.577													A	16664712	G	A	16664712	2	1	364	1	0	0	0	0	0	0	0	1	14678	1140	40	1		1	SLC35E1	19	16664712	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33434	16664712	42464271	13458	36960											
MED26	9441	broad.mit.edu	37	chr19	16688338	16688338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcccccgttggcagagccGgtggcccccgccagcccccg	3	3	14	21	5	0	1	0	0	0	1	0	1	0	1	8	3	2	2	8	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16688338G>A	ENST00000263390.3	-	3	565	c.303C>T	c.(301-303)acC>acT	p.T101T	CTD-3222D19.2_ENST00000409035.1_Silent_p.T109T	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	101					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGCAGAGCCGGTGGCCCCCG	0.706													A	16688338	G	A	16688338	2	1	364	1	0	0	0	0	0	0	0	1	9519	1103	39	1		1	MED26	19	16688338	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23626	16688338	42440645	13459	36961											
TMEM38A	79041	broad.mit.edu	37	chr19	16791393	16791393	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcaactgggtgggtcaaagGtaaataggatgatgacaatg	14	9	14	4	0	1	2	1	2	0	0	1	3	1	3	0	4	2	2	0	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16791393G>T	ENST00000187762.2	+	3	557		c.e3+1			NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A							integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						TGGGTCAAAGGTAAATAGGAT	0.532													T	16791393	G	T	16791393	5	4	364	1	0	0	0	0	0	0	1	0	16259	1275	44	4	477	4	TMEM38A	19	16791393	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103055	16791393	42337590	13460	36962											
TMEM38A	79041	broad.mit.edu	37	chr19	16797199	16797199	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatcttcatcttcaccttgTtcatggtgtcctgtaaggta	7	17	7	10	0	6	0	4	0	2	0	7	0	7	0	2	2	0	3	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16797199T>G	ENST00000187762.2	+	5	746	c.655T>G	c.(655-657)Ttc>Gtc	p.F219V		NM_024074.1	NP_076979.1	Q9H6F2	TM38A_HUMAN	transmembrane protein 38A	219						integral to membrane|nuclear membrane|sarcoplasmic reticulum membrane	potassium channel activity			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)	15						CTTCACCTTGTTCATGGTGTC	0.557													G	16797199	T	G	16797199	3	3	364	1	0	0	0	0	1	0	0	0	16259	1725	60	5	673	5	TMEM38A	19	16797199	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5806	16797199	42331784	13461	36963											
SIN3B	23309	broad.mit.edu	37	chr19	16957837	16957837	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcatgtctgaagaggaggtGttcaccgaggtggccaacct	9	8	15	9	1	2	2	1	1	1	1	2	4	2	3	3	5	1	2	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16957837G>A	ENST00000379803.1	+	5	653	c.639G>A	c.(637-639)gtG>gtA	p.V213V	SIN3B_ENST00000596802.1_Silent_p.V213V|SIN3B_ENST00000248054.5_Silent_p.V213V	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	213	PAH 2.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						AAGAGGAGGTGTTCACCGAGG	0.577													A	16957837	G	A	16957837	2	1	364	1	0	0	0	0	0	0	0	1	14420	1364	48	2		2	SIN3B	19	16957837	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160638	16957837	42171146	13462	36964											
SIN3B	23309	broad.mit.edu	37	chr19	16973180	16973180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggaaatttccagaactctTtgcacagttcaagtccttcc	12	12	6	11	0	2	1	1	0	1	1	5	2	5	2	3	1	2	2	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:16973180T>G	ENST00000379803.1	+	9	1090	c.1076T>G	c.(1075-1077)tTt>tGt	p.F359C	SIN3B_ENST00000248054.5_Missense_Mutation_p.F359C	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	359	Interaction with NCOR1 (By similarity).|PAH 3.				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CCAGAACTCTTTGCACAGTTC	0.493													G	16973180	T	G	16973180	3	3	364	1	0	0	0	0	1	0	0	0	14420	1841	64	5	1110	5	SIN3B	19	16973180	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	15343	16973180	42155803	13463	36965											
CPAMD8	27151	broad.mit.edu	37	chr19	17122306	17122306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctcagatttggagagaCggtgaagatgcttatgagca	12	9	14	6	1	1	5	1	2	0	3	1	7	1	6	1	3	2	2	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17122306C>T	ENST00000443236.1	-	5	626	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.V152I	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	152						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						TTTGGAGAGACGGTGAAGATG	0.587													T	17122306	C	T	17122306	3	4	364	1	0	0	0	0	1	0	0	0	3826	536	19	1	5355	1	CPAMD8	19	17122306	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149126	17122306	42006677	13464	36966											
MYO9B	4650	broad.mit.edu	37	chr19	17212988	17212988	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatgacctgtgtaaccTccccgagctaaccgagggca	9	9	10	13	2	0	2	0	2	0	0	1	4	1	2	5	1	3	3	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17212988T>C	ENST00000595618.1	+	2	613	c.461T>C	c.(460-462)cTc>cCc	p.L154P	MYO9B_ENST00000397274.2_Missense_Mutation_p.L154P|MYO9B_ENST00000594824.1_Missense_Mutation_p.L154P	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	154	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGTGTAACCTCCCCGAGCTA	0.617													C	17212988	T	C	17212988	3	2	364	1	0	0	0	0	1	0	0	0	10161	1551	54	3	463	3	MYO9B	19	17212988	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	90682	17212988	41915995	13465	36967											
MYO9B	4650	broad.mit.edu	37	chr19	17298836	17298836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccggaggtcagggtacagCgccaagtacacgttccaggt	10	7	13	11	3	1	0	1	0	0	0	3	1	3	1	3	4	3	3	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17298836C>T	ENST00000595618.1	+	19	2822	c.2670C>T	c.(2668-2670)agC>agT	p.S890S	MYO9B_ENST00000397274.2_Silent_p.S890S|MYO9B_ENST00000594824.1_Silent_p.S890S	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	890	Myosin head-like.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CAGGGTACAGCGCCAAGTACA	0.572													T	17298836	C	T	17298836	2	4	364	1	0	0	0	0	0	0	0	1	10161	767	27	1		1	MYO9B	19	17298836	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85848	17298836	41830147	13466	36968											
MYO9B	4650	broad.mit.edu	37	chr19	17313002	17313002	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatcgtcgtcagcaacCtggccactgagcgtggccag	9	6	12	14	3	1	2	1	1	0	1	3	2	1	2	4	2	3	1	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17313002C>A	ENST00000595618.1	+	28	4878	c.4726C>A	c.(4726-4728)Ctg>Atg	p.L1576M	MYO9B_ENST00000397274.2_Missense_Mutation_p.L1576M|MYO9B_ENST00000594824.1_Missense_Mutation_p.L1576M	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1576	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CGTCAGCAACCTGGCCACTGA	0.567													A	17313002	C	A	17313002	3	1	364	1	0	0	0	0	1	0	0	0	10161	680	24	4	4832	4	MYO9B	19	17313002	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14166	17313002	41815981	13467	36969											
MYO9B	4650	broad.mit.edu	37	chr19	17322563	17322563	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcctgctggaggagcgggCcgggcggggggcctcggaag	5	3	23	10	4	0	0	0	0	0	0	1	4	0	3	3	8	3	1	3	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322563C>T	ENST00000595618.1	+	39	6190	c.6038C>T	c.(6037-6039)gCc>gTc	p.A2013V	MYO9B_ENST00000397274.2_Missense_Mutation_p.A2013V|MYO9B_ENST00000594824.1_Missense_Mutation_p.A2013V	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	2013	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						GAGGAGCGGGCCGGGCGGGGG	0.687													T	17322563	C	T	17322563	3	4	364	1	0	0	0	0	1	0	0	0	10161	739	26	2	6188	2	MYO9B	19	17322563	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9561	17322563	41806420	13468	36970											
MYO9B	4650	broad.mit.edu	37	chr19	17322804	17322804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtcgtccttcgtaacGgtcagagtgaagaccccccg	8	7	12	14	5	1	3	1	1	0	2	4	3	2	3	5	2	1	1	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17322804G>A	ENST00000594824.1	+	40	6306	c.6159G>A	c.(6157-6159)acG>acA	p.T2053T	MYO9B_ENST00000397274.2_3'UTR|MYO9B_ENST00000595618.1_3'UTR			Q13459	MYO9B_HUMAN	myosin IXB	2053	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CCTTCGTAACGGTCAGAGTGA	0.736													A	17322804	G	A	17322804	2	1	364	1	0	0	0	0	0	0	0	1	10161	1103	39	1		1	MYO9B	19	17322804	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241	17322804	41806179	13469	36971											
USHBP1	83878	broad.mit.edu	37	chr19	17370173	17370173	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctgaggccttcacagCggcccttgtatccctgtagc	6	10	11	14	1	1	1	1	1	0	0	2	1	2	1	3	2	3	4	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17370173C>T	ENST00000252597.3	-	7	1144	c.971G>A	c.(970-972)cGc>cAc	p.R324H	USHBP1_ENST00000431146.2_Missense_Mutation_p.R260H	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	324							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						GCCTTCACAGCGGCCCTTGTA	0.562													T	17370173	C	T	17370173	3	4	364	1	0	0	0	0	1	0	0	0	17139	768	27	1	1168	1	USHBP1	19	17370173	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47369	17370173	41758810	13470	36972											
USHBP1	83878	broad.mit.edu	37	chr19	17373578	17373578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccatcggcccagaatggCtggggggctggtggcgccag	6	6	17	12	2	0	1	0	0	0	1	2	1	1	1	3	7	0	2	3	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17373578C>A	ENST00000252597.3	-	4	598	c.425G>T	c.(424-426)aGc>aTc	p.S142I	USHBP1_ENST00000431146.2_Missense_Mutation_p.S78I|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	142							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCCAGAATGGCTGGGGGGCTG	0.677													A	17373578	C	A	17373578	3	1	364	1	0	0	0	0	1	0	0	0	17139	797	28	4	1726	4	USHBP1	19	17373578	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3405	17373578	41755405	13471	36973											
ANKLE1	126549	broad.mit.edu	37	chr19	17394492	17394493	+	Frame_Shift_Ins	INS	-	-	A																															gagtccagctcatagcccccINScacggacaccaacccctgga																								rs139428363		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17394492_17394493insA	ENST00000394458.3	+	5	1195_1196	c.919_920insA	c.(919-921)ccafs	p.P307fs	ANKLE1_ENST00000404085.1_Frame_Shift_Ins_p.P329fs|ANKLE1_ENST00000594072.1_Frame_Shift_Ins_p.P296fs|ANKLE1_ENST00000598347.1_Frame_Shift_Ins_p.P307fs|ANKLE1_ENST00000433424.2_Frame_Shift_Ins_p.P361fs	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	307						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TCATAGCCCCCCACGGACACCA	0.609													A	17394493	-	A	17394492	7	5	364	1	0	1	1	0	0	0	0	0	632	623	22	0	937	0	ANKLE1	19	17394492	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	20914	17394492	41734491	13472	36974											
ABHD8	79575	broad.mit.edu	37	chr19	17411728	17411728	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaagattgctcgcatgTcctcagccagcgcatagaag	10	9	11	11	2	1	3	1	1	0	2	3	3	2	3	2	0	3	4	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17411728T>C	ENST00000247706.3	-	2	937	c.698A>G	c.(697-699)gAc>gGc	p.D233G	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	233							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						TGCTCGCATGTCCTCAGCCAG	0.622													C	17411728	T	C	17411728	3	2	364	1	0	0	0	0	1	0	0	0	87	1667	58	3	637	3	ABHD8	19	17411728	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17236	17411728	41717255	13473	36975											
ANO8	57719	broad.mit.edu	37	chr19	17441161	17441161	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagggtatggggggtcacCtgcagctggaagcagccaag	9	6	18	8	0	1	1	1	1	0	0	1	2	1	2	2	5	4	4	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17441161C>T	ENST00000159087.4	-	9	1304	c.1146G>A	c.(1144-1146)caG>caA	p.Q382Q		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	382	Leu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGGGGGTCACCTGCAGCTGGA	0.642													T	17441161	C	T	17441161	5	4	364	1	0	0	0	0	0	0	1	0	703	695	24	2	2592	2	ANO8	19	17441161	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29433	17441161	41687822	13474	36976											
SLC27A1	376497	broad.mit.edu	37	chr19	17597580	17597580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccgccagctgggcttcGcgccgggcgacgtggtggcc	2	8	16	15	6	1	0	0	0	1	0	3	1	2	0	4	4	1	2	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597580G>A	ENST00000252595.7	+	2	473	c.376G>A	c.(376-378)Gcg>Acg	p.A126T	SLC27A1_ENST00000442725.1_Missense_Mutation_p.A126T|SLC27A1_ENST00000598424.1_5'UTR	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	126					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCTGGGCTTCGCGCCGGGCGA	0.706													A	17597580	G	A	17597580	3	1	364	1	0	0	0	0	1	0	0	0	14619	1087	38	1	382	1	SLC27A1	19	17597580	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156419	17597580	41531403	13475	36977											
SLC27A1	376497	broad.mit.edu	37	chr19	17597672	17597672	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggcgggcatggaggccgcGctgctcaacgtgaacctgcg	8	5	16	12	5	1	1	1	1	0	0	1	2	1	2	2	4	4	3	2	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17597672G>A	ENST00000598424.1	+	0	760				SLC27A1_ENST00000442725.1_Silent_p.A156A|SLC27A1_ENST00000252595.7_Silent_p.A156A			Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1						cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TGGAGGCCGCGCTGCTCAACG	0.706													A	17597672	G	A	17597672	1	1	364	1	0	0	0	0	0	0	0	0	14619	1074	38	1		1	SLC27A1	19	17597672	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92	17597672	41531311	13476	36978											
SLC27A1	376497	broad.mit.edu	37	chr19	17615406	17615406	+	Silent	SNP	C	C	T																															tacactcgcatctgctcgggCgccttcgccctctgaagctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615406C>T	ENST00000252595.7	+	12	2023	c.1926C>T	c.(1924-1926)ggC>ggT	p.G642G	SLC27A1_ENST00000442725.1_Silent_p.G642G|SLC27A1_ENST00000598424.1_Silent_p.G463G|SLC27A1_ENST00000598848.1_3'UTR|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	642					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCTGCTCGGGCGCCTTCGCCC	0.627													T	17615406	C	T	17615406	2	4	364	1	0	0	0	0	0	0	0	1	14619	755	27	1		1	SLC27A1	19	17615406	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17734	17615406	41513577	13477	36979	110	2									
SLC27A1	376497	broad.mit.edu	37	chr19	17615413	17615413	+	Missense_Mutation	SNP	G	G	A																															gcatctgctcgggcgccttcGccctctgaagctgttcctct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17615413G>A	ENST00000252595.7	+	12	2030	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SLC27A1_ENST00000442725.1_Missense_Mutation_p.A645T|SLC27A1_ENST00000598424.1_Missense_Mutation_p.A466T|CTD-3131K8.2_ENST00000596643.1_lincRNA	NM_198580.1	NP_940982.1	Q6PCB7	S27A1_HUMAN	solute carrier family 27 (fatty acid transporter), member 1	645					cardiolipin biosynthetic process|fatty acid metabolic process|long-chain fatty acid transport|negative regulation of phospholipid biosynthetic process|phosphatidic acid biosynthetic process|phosphatidylcholine biosynthetic process|phosphatidylethanolamine biosynthetic process|phosphatidylinositol biosynthetic process|phosphatidylserine biosynthetic process|transmembrane transport	endomembrane system|integral to membrane	fatty acid transporter activity|nucleotide binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GGGCGCCTTCGCCCTCTGAAG	0.622													A	17615413	G	A	17615413	3	1	364	1	0	0	0	0	1	0	0	0	14619	1087	38	1	1979	1	SLC27A1	19	17615413	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7	17615413	41513570	13478	36980	110	2									
UNC13A	23025	broad.mit.edu	37	chr19	17735657	17735657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctggtcagtgaggggcGgcaggacgatggttttctcc	5	10	16	10	3	3	1	1	1	2	0	4	3	3	2	2	6	0	2	2	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17735657G>A	ENST00000428389.2	-	36	4441	c.4442C>T	c.(4441-4443)cCg>cTg	p.P1481L	UNC13A_ENST00000550896.1_Missense_Mutation_p.P1391L|UNC13A_ENST00000252773.7_Missense_Mutation_p.P1393L|UNC13A_ENST00000552293.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000551649.1_Missense_Mutation_p.P1393L|UNC13A_ENST00000519716.2_Missense_Mutation_p.P1393L			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1393	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTGAGGGGCGGCAGGACGAT	0.577													A	17735657	G	A	17735657	3	1	364	1	0	0	0	0	1	0	0	0	17086	1116	39	1	969	1	UNC13A	19	17735657	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	120244	17735657	41393326	13479	36981											
UNC13A	23025	broad.mit.edu	37	chr19	17753751	17753751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggatggcacccgacacggcaGatttgtcagttcgcttgtct	7	11	12	11	3	2	1	1	0	1	1	3	3	2	2	1	3	0	4	1	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17753751G>A	ENST00000428389.2	-	21	2638	c.2639C>T	c.(2638-2640)tCt>tTt	p.S880F	UNC13A_ENST00000550896.1_Missense_Mutation_p.S790F|UNC13A_ENST00000252773.7_Missense_Mutation_p.S792F|UNC13A_ENST00000552293.1_Missense_Mutation_p.S792F|UNC13A_ENST00000551649.1_Missense_Mutation_p.S792F|UNC13A_ENST00000519716.2_Missense_Mutation_p.S792F			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	792					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGACACGGCAGATTTGTCAGT	0.507													A	17753751	G	A	17753751	3	1	364	1	0	0	0	0	1	0	0	0	17086	942	33	2	2832	2	UNC13A	19	17753751	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18094	17753751	41375232	13480	36982											
UNC13A	23025	broad.mit.edu	37	chr19	17759323	17759323	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgcatgccctgcctcGcgatgccccacagcagcccc	6	5	10	20	3	0	0	0	0	0	0	1	1	0	0	6	0	7	3	6	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17759323G>A	ENST00000428389.2	-	17	1996	c.1997C>T	c.(1996-1998)gCg>gTg	p.A666V	UNC13A_ENST00000550896.1_Missense_Mutation_p.A576V|UNC13A_ENST00000252773.7_Missense_Mutation_p.A578V|UNC13A_ENST00000552293.1_Missense_Mutation_p.A578V|UNC13A_ENST00000551649.1_Missense_Mutation_p.A578V|UNC13A_ENST00000519716.2_Missense_Mutation_p.A578V			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	578	C2 2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						GCCCTGCCTCGCGATGCCCCA	0.652													A	17759323	G	A	17759323	3	1	364	1	0	0	0	0	1	0	0	0	17086	1087	38	1	3490	1	UNC13A	19	17759323	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5572	17759323	41369660	13481	36983											
MAP1S	55201	broad.mit.edu	37	chr19	17838652	17838652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggctttggagtccctcGccacgaccctttgcctgacc	6	9	11	15	2	0	2	0	1	0	1	2	4	1	3	5	2	1	1	5	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17838652G>A	ENST00000324096.4	+	5	2610	c.2459G>A	c.(2458-2460)cGc>cAc	p.R820H	MAP1S_ENST00000597681.1_3'UTR|MAP1S_ENST00000544059.2_Missense_Mutation_p.R794H|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	820	Necessary for association with microtubules.|Necessary for interaction with RASSF1 isoform A and isoform C.|Pro-rich.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GGAGTCCCTCGCCACGACCCT	0.662													A	17838652	G	A	17838652	3	1	364	1	0	0	0	0	1	0	0	0	9309	1087	38	1	2477	1	MAP1S	19	17838652	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79329	17838652	41290331	13482	36984											
FCHO1	23149	broad.mit.edu	37	chr19	17889000	17889000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagaacctctttgggccGcccctggagtcagcctttga	7	10	10	14	1	2	2	1	1	1	1	3	3	3	3	6	2	2	0	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17889000G>A	ENST00000594202.1	+	19	1593	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	FCHO1_ENST00000252771.7_Silent_p.P438P|FCHO1_ENST00000595033.1_Silent_p.P388P|FCHO1_ENST00000596536.1_Silent_p.P438P|FCHO1_ENST00000600676.1_Silent_p.P438P|FCHO1_ENST00000539407.1_Silent_p.P438P|FCHO1_ENST00000596951.1_Silent_p.P438P|FCHO1_ENST00000389133.4_Silent_p.P438P|FCHO1_ENST00000597512.1_Silent_p.P445P	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	438										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TCTTTGGGCCGCCCCTGGAGT	0.572													A	17889000	G	A	17889000	2	1	364	1	0	0	0	0	0	0	0	1	5836	1074	38	1		1	FCHO1	19	17889000	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50348	17889000	41239983	13483	36985											
RPL18A	6142	broad.mit.edu	37	chr19	17972951	17972951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaacttcgggatctggctgCgctatgactcccggagcggc	7	8	14	12	4	1	2	0	1	1	1	3	4	2	4	1	4	3	2	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:17972951C>T	ENST00000600147.1	+	3	283	c.247C>T	c.(247-249)Cgc>Tgc	p.R83C	RPL18A_ENST00000599870.1_Missense_Mutation_p.R54C|RPL18A_ENST00000222247.5_Missense_Mutation_p.R83C|RPL18A_ENST00000599898.1_Missense_Mutation_p.R44C			Q02543	RL18A_HUMAN	ribosomal protein L18a	83				R -> S (in Ref. 2; CAA56788).	endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						GATCTGGCTGCGCTATGACTC	0.627													T	17972951	C	T	17972951	3	4	364	1	0	0	0	0	1	0	0	0	13656	768	27	1	257	1	RPL18A	19	17972951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83951	17972951	41156032	13484	36986											
KCNN1	3780	broad.mit.edu	37	chr19	18084939	18084939	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaggccggcaggcagaGagcctcggggaaaccctcaa	12	3	15	11	2	1	3	1	1	0	2	2	5	1	4	3	5	2	2	3	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18084939G>T	ENST00000222249.9	+	3	561	c.242G>T	c.(241-243)aGa>aTa	p.R81I		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GGCAGGCAGAGAGCCTCGGGG	0.677													T	18084939	G	T	18084939	3	4	364	1	0	0	0	0	1	0	0	0	8136	942	33	4	244	4	KCNN1	19	18084939	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111988	18084939	41044044	13485	36987											
KCNN1	3780	broad.mit.edu	37	chr19	18092792	18092792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcacggacgcctcgagccGcagcatcggggccctcaaca	8	5	11	17	5	2	0	2	0	0	0	4	2	2	1	3	3	3	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18092792G>A	ENST00000222249.9	+	5	1092	c.773G>A	c.(772-774)cGc>cAc	p.R258H		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						GCCTCGAGCCGCAGCATCGGG	0.602													A	18092792	G	A	18092792	3	1	364	1	0	0	0	0	1	0	0	0	8136	1087	38	1	783	1	KCNN1	19	18092792	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7853	18092792	41036191	13486	36988											
IL12RB1	3594	broad.mit.edu	37	chr19	18180427	18180427	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccgtcctggcccacaGgctgccattcaatgcaatac	8	7	9	17	1	1	0	1	0	0	0	2	0	2	0	5	3	3	2	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18180427G>T	ENST00000600835.2	-	11	1416	c.1118C>A	c.(1117-1119)cCt>cAt	p.P373H	IL12RB1_ENST00000593993.2_Missense_Mutation_p.P373H			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 4.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGGCCCACAGGCTGCCATTC	0.622													T	18180427	G	T	18180427	3	4	364	1	0	0	0	0	1	0	0	0	7684	1000	35	4	902	4	IL12RB1	19	18180427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87635	18180427	40948556	13487	36989											
PIK3R2	5296	broad.mit.edu	37	chr19	18273240	18273240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtgaacgagaaactcCgggacactcccgatggcacc	12	4	13	12	3	0	2	0	1	0	1	2	6	2	4	3	4	2	1	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18273240C>T	ENST00000593731.1	+	9	1593	c.1033C>T	c.(1033-1035)Cgg>Tgg	p.R345W	PIK3R2_ENST00000222254.8_Missense_Mutation_p.R345W			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	345	SH2 1.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						CGAGAAACTCCGGGACACTCC	0.612													T	18273240	C	T	18273240	3	4	364	1	0	0	0	0	1	0	0	0	11996	643	23	1	1063	1	PIK3R2	19	18273240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92813	18273240	40855743	13488	36990											
IFI30	10437	broad.mit.edu	37	chr19	18286467	18286467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccttcctgaccattgtctGcatggaagagtttgaggaca	10	11	11	9	0	1	3	0	2	1	1	2	5	2	5	3	2	2	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18286467G>A	ENST00000407280.3	+	4	618	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	PIK3R2_ENST00000593731.1_3'UTR	NM_006332.3	NP_006323.2	P13284	GILT_HUMAN	interferon, gamma-inducible protein 30					C -> WHG (in Ref. 1; AAA36105).	antigen processing and presentation of exogenous peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway	cell junction|extracellular region|lysosome	oxidoreductase activity, acting on a sulfur group of donors			endometrium(1)|kidney(2)|large_intestine(1)|stomach(1)	5						ACCATTGTCTGCATGGAAGAG	0.572													A	18286467	G	A	18286467	3	1	364	1	0	0	0	0	1	0	0	0	7573	1319	46	2	457	2	IFI30	19	18286467	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13227	18286467	40842516	13489	36991											
RAB3A	5864	broad.mit.edu	37	chr19	18313466	18313466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcccacgctgctgttgcCgatgatgagaatcttgaaca	9	11	10	11	2	1	3	0	3	1	1	1	5	1	3	2	0	4	3	2	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18313466C>T	ENST00000222256.4	-	2	263	c.85G>A	c.(85-87)Ggc>Agc	p.G29S	RAB3A_ENST00000464076.3_Intron	NM_002866.4	NP_002857.1	P20336	RAB3A_HUMAN	RAB3A, member RAS oncogene family	29					glutamate secretion|protein transport|small GTPase mediated signal transduction	clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|plasma membrane|synaptic vesicle	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CTGCTGTTGCCGATGATGAGA	0.567											OREG0025360	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	18313466	C	T	18313466	3	4	364	1	0	0	0	0	1	0	0	0	13019	652	23	1	593	1	RAB3A	19	18313466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26999	18313466	40815517	13490	36992											
PDE4C	5143	broad.mit.edu	37	chr19	18324238	18324238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcttgtcaccttcttggtCtccaccatggtcttgaggtc	5	14	10	12	0	4	1	1	1	3	0	6	1	4	1	3	4	0	1	3	4	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18324238C>T	ENST00000355502.3	-	17	2419	c.1548G>A	c.(1546-1548)gaG>gaA	p.E516E	PDE4C_ENST00000597297.1_Silent_p.E286E|PDE4C_ENST00000594617.3_Silent_p.E516E|PDE4C_ENST00000539010.1_Silent_p.E285E|PDE4C_ENST00000598111.2_Silent_p.E231E|PDE4C_ENST00000594465.3_Silent_p.E516E|PDE4C_ENST00000447275.3_Silent_p.E410E|PDE4C_ENST00000262805.12_Silent_p.E484E|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	516					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	CCTTCTTGGTCTCCACCATGG	0.572													T	18324238	C	T	18324238	2	4	364	1	0	0	0	0	0	0	0	1	11717	912	32	2		2	PDE4C	19	18324238	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10772	18324238	40804745	13491	36993											
PDE4C	5143	broad.mit.edu	37	chr19	18329299	18329299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctggaatgtcttcagcaGgtcccgctcctggtccatca	7	11	10	13	1	4	0	2	0	2	0	7	2	7	1	3	3	1	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18329299G>T	ENST00000355502.3	-	14	1946	c.1075C>A	c.(1075-1077)Ctg>Atg	p.L359M	PDE4C_ENST00000597297.1_Missense_Mutation_p.L129M|PDE4C_ENST00000594617.3_Missense_Mutation_p.L359M|PDE4C_ENST00000539010.1_Missense_Mutation_p.L128M|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Missense_Mutation_p.L359M|PDE4C_ENST00000447275.3_Missense_Mutation_p.L253M|PDE4C_ENST00000262805.12_Missense_Mutation_p.L327M|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	359					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GTCTTCAGCAGGTCCCGCTCC	0.582													T	18329299	G	T	18329299	3	4	364	1	0	0	0	0	1	0	0	0	11717	991	35	4	1087	4	PDE4C	19	18329299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5061	18329299	40799684	13492	36994											
PDE4C	5143	broad.mit.edu	37	chr19	18331255	18331255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgagtgccgggtctgcagCgtctccaactgatccaggca	8	7	12	14	3	2	1	0	1	2	0	4	2	3	1	4	2	4	2	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18331255C>T	ENST00000355502.3	-	10	1537	c.666G>A	c.(664-666)acG>acA	p.T222T	PDE4C_ENST00000597297.1_Intron|PDE4C_ENST00000594617.3_Silent_p.T222T|PDE4C_ENST00000539010.1_5'UTR|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000594465.3_Silent_p.T222T|PDE4C_ENST00000447275.3_Silent_p.T116T|PDE4C_ENST00000262805.12_Silent_p.T190T|AC068499.10_ENST00000594805.3_RNA			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	222					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGTCTGCAGCGTCTCCAACT	0.662													T	18331255	C	T	18331255	2	4	364	1	0	0	0	0	0	0	0	1	11717	755	27	1		1	PDE4C	19	18331255	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1956	18331255	40797728	13493	36995											
KIAA1683	80726	broad.mit.edu	37	chr19	18376213	18376213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaatgcatcttgctcaGacaggtgtccagatgggcca	9	9	13	10	0	2	2	1	0	1	2	3	3	3	3	2	3	2	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376213G>T	ENST00000392413.4	-	3	2352	c.2137C>A	c.(2137-2139)Ctg>Atg	p.L713M	KIAA1683_ENST00000600359.3_Missense_Mutation_p.L667M|KIAA1683_ENST00000600328.3_Missense_Mutation_p.L713M	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						ATCTTGCTCAGACAGGTGTCC	0.627													T	18376213	G	T	18376213	3	4	364	1	0	0	0	0	1	0	0	0	8309	933	33	4	1974	4	KIAA1683	19	18376213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44958	18376213	40752770	13494	36996											
KIAA1683	80726	broad.mit.edu	37	chr19	18376492	18376492	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactgccacactggtcttaaAtgccatgtctgttttcgcct	7	14	7	13	1	2	0	0	0	2	0	3	0	2	0	3	1	2	1	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18376492A>C	ENST00000392413.4	-	3	2073	c.1858T>G	c.(1858-1860)Ttt>Gtt	p.F620V	KIAA1683_ENST00000600359.3_Missense_Mutation_p.F574V|KIAA1683_ENST00000600328.3_Missense_Mutation_p.F620V	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTGGTCTTAAATGCCATGTCT	0.542													C	18376492	A	C	18376492	3	2	364	1	0	0	0	0	1	0	0	0	8309	101	4	5	2253	5	KIAA1683	19	18376492	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	279	18376492	40752491	13495	36997											
KIAA1683	80726	broad.mit.edu	37	chr19	18377077	18377077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacctgaggtcggttctttgCcgtgatggtcgcagggcatg	6	11	15	9	3	1	2	0	2	1	0	3	2	1	2	2	4	2	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18377077C>T	ENST00000392413.4	-	3	1488	c.1273G>A	c.(1273-1275)Gca>Aca	p.A425T	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A379T|KIAA1683_ENST00000600328.3_Missense_Mutation_p.A425T	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CGGTTCTTTGCCGTGATGGTC	0.607													T	18377077	C	T	18377077	3	4	364	1	0	0	0	0	1	0	0	0	8309	739	26	2	2838	2	KIAA1683	19	18377077	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	585	18377077	40751906	13496	36998											
KIAA1683	80726	broad.mit.edu	37	chr19	18378152	18378152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccttcggcaggctgttgCggaagatgctccttggactt	5	13	13	10	2	0	1	0	0	0	1	2	3	1	3	2	4	3	4	2	4	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18378152C>T	ENST00000392413.4	-	3	413	c.198G>A	c.(196-198)ccG>ccA	p.P66P	KIAA1683_ENST00000600359.3_Silent_p.P20P|KIAA1683_ENST00000600328.3_Silent_p.P66P	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CAGGCTGTTGCGGAAGATGCT	0.642													T	18378152	C	T	18378152	2	4	364	1	0	0	0	0	0	0	0	1	8309	755	27	1		1	KIAA1683	19	18378152	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1075	18378152	40750831	13497	36999											
LRRC25	126364	broad.mit.edu	37	chr19	18502922	18502922	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtaaaagtcattgtcctCtgaagggtgagccctggggg	9	10	15	7	0	2	2	1	2	1	0	3	3	3	2	2	3	1	1	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18502922C>A	ENST00000339007.3	-	2	1446	c.793G>T	c.(793-795)Gag>Tag	p.E265*	LRRC25_ENST00000595840.1_Nonsense_Mutation_p.E265*	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	265						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						TCATTGTCCTCTGAAGGGTGA	0.562													A	18502922	C	A	18502922	4	1	364	1	0	0	0	0	0	1	0	0	9050	922	32	4	128	4	LRRC25	19	18502922	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	124770	18502922	40626061	13498	37000											
ISYNA1	51477	broad.mit.edu	37	chr19	18546085	18546085	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggggtgcacctgaggatgTtctcgatgcagctgcgctgg	5	10	16	10	2	1	1	0	1	1	0	2	3	1	2	1	4	4	5	1	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18546085T>G	ENST00000338128.8	-	10	1680	c.1463A>C	c.(1462-1464)aAc>aCc	p.N488T	ISYNA1_ENST00000545187.1_Missense_Mutation_p.N338T|ISYNA1_ENST00000457269.4_Missense_Mutation_p.N434T|ISYNA1_ENST00000578963.1_Missense_Mutation_p.N360T|ISYNA1_ENST00000317018.6_Missense_Mutation_p.N286T	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						CCTGAGGATGTTCTCGATGCA	0.667													G	18546085	T	G	18546085	3	3	364	1	0	0	0	0	1	0	0	0	7925	1725	60	5	221	5	ISYNA1	19	18546085	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43163	18546085	40582898	13499	37001											
ELL	8178	broad.mit.edu	37	chr19	18555662	18555662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagcggtgcttctcctggCtgtagttggtgttggtctgt	2	15	15	9	2	2	0	0	0	2	0	3	0	2	0	1	4	2	6	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18555662C>A	ENST00000262809.4	-	12	1837	c.1766G>T	c.(1765-1767)aGc>aTc	p.S589I	ELL_ENST00000596124.3_Missense_Mutation_p.S456I	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	589					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		CTTCTCCTGGCTGTAGTTGGT	0.632			T	MLL	AL								A	18555662	C	A	18555662	3	1	364	1	0	0	0	0	1	0	0	0	5103	797	28	4	103	4	ELL	19	18555662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9577	18555662	40573321	13500	37002											
ELL	8178	broad.mit.edu	37	chr19	18572498	18572498	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtagtgccaggaggtgcaGcactcggtcacggaagggcc	8	5	16	12	3	1	0	1	0	0	0	2	2	1	2	3	5	3	3	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18572498G>T	ENST00000262809.4	-	5	705	c.634C>A	c.(634-636)Ctg>Atg	p.L212M	ELL_ENST00000596124.3_Missense_Mutation_p.L79M	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	212					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		AGGAGGTGCAGCACTCGGTCA	0.667			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	18572498	G	T	18572498	3	4	364	1	0	0	0	0	1	0	0	0	5103	962	34	4	1263	4	ELL	19	18572498	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16836	18572498	40556485	13501	37003											
CRLF1	9244	broad.mit.edu	37	chr19	18710376	18710376	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcctgggtgccaacttacgGccaacatagaggcaggagcc	10	6	13	12	1	0	1	0	0	0	1	1	2	1	2	4	4	5	1	4	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18710376G>A	ENST00000392386.3	-	2	589	c.396C>T	c.(394-396)ggC>ggT	p.G132G		NM_004750.4	NP_004741.1	O75462	CRLF1_HUMAN	cytokine receptor-like factor 1	132					negative regulation of neuron apoptosis|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein	extracellular space	cytokine binding|protein heterodimerization activity|receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	9						CCAACTTACGGCCAACATAGA	0.647													A	18710376	G	A	18710376	5	1	364	1	0	0	0	0	0	0	1	0	3917	1217	42	2	904	2	CRLF1	19	18710376	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137878	18710376	40418607	13502	37004											
UPF1	5976	broad.mit.edu	37	chr19	18965817	18965817	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccaagcgcttcacggcGcagggcctccccgacctcaa	7	5	10	19	4	2	0	2	0	0	0	3	1	3	0	5	2	2	2	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18965817G>A	ENST00000262803.5	+	10	1667	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	UPF1_ENST00000599848.1_Silent_p.A476A	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	476					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GCTTCACGGCGCAGGGCCTCC	0.672													A	18965817	G	A	18965817	2	1	364	1	0	0	0	0	0	0	0	1	17105	1074	38	1		1	UPF1	19	18965817	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255441	18965817	40163166	13503	37005											
UPF1	5976	broad.mit.edu	37	chr19	18966764	18966764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtgtgctccgagcaacatCgccgtggaccagctaacgga	9	7	13	12	4	0	0	0	0	0	0	2	3	1	2	3	2	5	3	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:18966764C>T	ENST00000262803.5	+	12	1847	c.1575C>T	c.(1573-1575)atC>atT	p.I525I	UPF1_ENST00000599848.1_Silent_p.I536I	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	536					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CGAGCAACATCGCCGTGGACC	0.602													T	18966764	C	T	18966764	2	4	364	1	0	0	0	0	0	0	0	1	17105	874	31	1		1	UPF1	19	18966764	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	947	18966764	40162219	13504	37006											
HOMER3	9454	broad.mit.edu	37	chr19	19049214	19049214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtagactgtgttggcgCgactgtcggcccactgcccg	4	8	15	14	5	0	1	0	0	0	1	1	2	0	1	3	3	1	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19049214C>T	ENST00000539827.1	-	3	903	c.251G>A	c.(250-252)cGc>cAc	p.R84H	HOMER3_ENST00000355887.6_Missense_Mutation_p.R84H|HOMER3_ENST00000221222.11_Missense_Mutation_p.R84H|HOMER3_ENST00000433218.2_Missense_Mutation_p.R84H|HOMER3_ENST00000392351.3_Missense_Mutation_p.R84H|HOMER3_ENST00000594439.1_Missense_Mutation_p.R84H|HOMER3_ENST00000542541.2_Missense_Mutation_p.R84H|HOMER3_ENST00000594794.1_Intron			Q9NSC5	HOME3_HUMAN	homer homolog 3 (Drosophila)	84	WH1.				metabotropic glutamate receptor signaling pathway|protein targeting	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	protein binding			endometrium(3)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	10			Epithelial(12;0.0107)			TGTGTTGGCGCGACTGTCGGC	0.592													T	19049214	C	T	19049214	3	4	364	1	0	0	0	0	1	0	0	0	7335	768	27	1	862	1	HOMER3	19	19049214	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82450	19049214	40079769	13505	37007											
TMEM161A	54929	broad.mit.edu	37	chr19	19243998	19243998	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgaagctcctcctcagaCgggtgcttgtatcggaacaa	9	8	11	13	3	1	1	1	0	0	1	4	3	3	2	3	2	3	3	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19243998C>T	ENST00000450333.2	-	3	166	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMEM161A_ENST00000592147.1_5'UTR|TMEM161A_ENST00000162044.9_Silent_p.P43P|TMEM161A_ENST00000587583.2_Silent_p.P43P	NM_001256766.1	NP_001243695.1	Q9NX61	T161A_HUMAN	transmembrane protein 161A	43					cellular response to oxidative stress|cellular response to UV|negative regulation of apoptosis|positive regulation of DNA repair|response to retinoic acid	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(5;1.19e-05)|Epithelial(12;0.0011)			CCTCCTCAGACGGGTGCTTGT	0.647													T	19243998	C	T	19243998	2	4	364	1	0	0	0	0	0	0	0	1	16176	523	19	1		1	TMEM161A	19	19243998	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194784	19243998	39884985	13506	37008											
MEF2B	100271849	broad.mit.edu	37	chr19	19257608	19257608	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggcaggtctgacctccgCccttccgtcggcaggtacag	6	7	12	16	3	1	1	0	1	1	0	4	1	3	1	5	4	1	3	5	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19257608C>A	ENST00000602424.2	-	8	1344	c.618G>T	c.(616-618)ggG>ggT	p.G206G	MEF2B_ENST00000410050.1_Silent_p.G206G|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.G206G|MEF2B_ENST00000409447.2_Intron|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.G223G|MEF2B_ENST00000424583.2_Silent_p.G206G|MEF2B_ENST00000409224.1_Silent_p.G209G|MEF2B_ENST00000162023.5_Silent_p.G206G	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			CTGACCTCCGCCCTTCCGTCG	0.662													A	19257608	C	A	19257608	2	1	364	1	0	0	0	0	0	0	0	1	9531	726	26	4		4	MEF2B	19	19257608	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13610	19257608	39871375	13507	37009											
MEF2B	100271849	broad.mit.edu	37	chr19	19258575	19258575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctccgaaacttctctcctgGctcctcaggcccttcatccg	5	11	6	19	2	3	0	2	0	1	0	8	1	7	0	6	2	1	1	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19258575G>A	ENST00000602424.2	-	6	1051	c.325C>T	c.(325-327)Cca>Tca	p.P109S	MEF2B_ENST00000410050.1_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000444486.3_Missense_Mutation_p.P109S|MEF2B_ENST00000409447.2_Missense_Mutation_p.P109S|MEF2BNB-MEF2B_ENST00000514819.3_Missense_Mutation_p.P126S|MEF2B_ENST00000424583.2_Missense_Mutation_p.P109S|MEF2B_ENST00000409224.1_Missense_Mutation_p.P112S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2B_ENST00000162023.5_Missense_Mutation_p.P109S	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			TTCTCTCCTGGCTCCTCAGGC	0.627													A	19258575	G	A	19258575	3	1	364	1	0	0	0	0	1	0	0	0	9531	1203	42	2	805	2	MEF2B	19	19258575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	967	19258575	39870408	13508	37010											
NCAN	1463	broad.mit.edu	37	chr19	19329930	19329930	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgacaggacttgcccatcCtggtggccaaggacaatgtc	10	7	12	12	1	0	0	0	0	0	0	2	3	1	2	3	4	2	0	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19329930C>A	ENST00000252575.6	+	3	379	c.280C>A	c.(280-282)Ctg>Atg	p.L94M		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTTGCCCATCCTGGTGGCCAA	0.642													A	19329930	C	A	19329930	3	1	364	1	0	0	0	0	1	0	0	0	10280	680	24	4	286	4	NCAN	19	19329930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71355	19329930	39799053	13509	37011											
NCAN	1463	broad.mit.edu	37	chr19	19330052	19330052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccactgagggccagtgaCtctgggctgtaccgctgcca	6	7	15	13	1	1	2	0	2	1	0	1	2	1	2	4	3	2	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19330052C>A	ENST00000252575.6	+	3	501	c.402C>A	c.(400-402)gaC>gaA	p.D134E		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		Ig-like V-type.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			GGGCCAGTGACTCTGGGCTGT	0.662													A	19330052	C	A	19330052	3	1	364	1	0	0	0	0	1	0	0	0	10280	564	20	4	408	4	NCAN	19	19330052	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	122	19330052	39798931	13510	37012											
NCAN	1463	broad.mit.edu	37	chr19	19351456	19351456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctgaacgacaggatcGtggagagagatttccagtgg	10	8	15	8	3	0	3	0	1	0	2	3	7	1	4	2	4	1	0	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19351456G>A	ENST00000252575.6	+	12	3553	c.3454G>A	c.(3454-3456)Gtg>Atg	p.V1152M	NCAN_ENST00000538881.1_Missense_Mutation_p.V603M	NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan		C-type lectin.				axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CGACAGGATCGTGGAGAGAGA	0.632													A	19351456	G	A	19351456	3	1	364	1	0	0	0	0	1	0	0	0	10280	1145	40	1	3496	1	NCAN	19	19351456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21404	19351456	39777527	13511	37013											
GATAD2A	54815	broad.mit.edu	37	chr19	19603460	19603460	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgaggttagaagaagcaaAactcgtgttgttgaaaaagt	16	11	11	3	1	0	4	0	2	0	2	1	4	0	4	0	1	2	4	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19603460A>C	ENST00000404158.1	+	6	891	c.473A>C	c.(472-474)aAa>aCa	p.K158T	GATAD2A_ENST00000358713.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000360315.3_Missense_Mutation_p.K158T|GATAD2A_ENST00000429563.2_Missense_Mutation_p.K15T|GATAD2A_ENST00000537887.1_Intron|GATAD2A_ENST00000252577.5_Missense_Mutation_p.K158T			Q86YP4	P66A_HUMAN	GATA zinc finger domain containing 2A	158					DNA methylation|negative regulation of transcription, DNA-dependent	nuclear speck|NuRD complex	protein binding, bridging|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13						GAAGAAGCAAAACTCGTGTTG	0.517													C	19603460	A	C	19603460	3	2	364	1	0	0	0	0	1	0	0	0	6314	14	1	5	483	5	GATAD2A	19	19603460	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	252004	19603460	39525523	13512	37014											
TSSK6	83983	broad.mit.edu	37	chr19	19625988	19625988	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacgatgtacagtttcccGttgcacacctcgatgaactc	10	11	7	13	3	1	1	1	1	0	0	4	3	2	1	2	0	3	4	2	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19625988G>A	ENST00000360913.3	-	1	850	c.249C>T	c.(247-249)aaC>aaT	p.N83N	TSSK6_ENST00000585580.3_Silent_p.N83N			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	83	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						ACAGTTTCCCGTTGCACACCT	0.637													A	19625988	G	A	19625988	2	1	364	1	0	0	0	0	0	0	0	1	16773	1136	40	1		1	TSSK6	19	19625988	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22528	19625988	39502995	13513	37015											
CILP2	148113	broad.mit.edu	37	chr19	19655297	19655297	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttctccgtggacctccGtgcgcccggctccgcggagc	3	8	13	17	6	1	0	0	0	1	0	4	2	3	2	5	3	2	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19655297G>A	ENST00000586018.1	+	8	2063	c.1961G>A	c.(1960-1962)cGt>cAt	p.R654H	CILP2_ENST00000291495.5_Missense_Mutation_p.R648H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	648						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GTGGACCTCCGTGCGCCCGGC	0.721													A	19655297	G	A	19655297	3	1	364	1	0	0	0	0	1	0	0	0	3460	1145	40	1	1973	1	CILP2	19	19655297	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29309	19655297	39473686	13514	37016											
GMIP	51291	broad.mit.edu	37	chr19	19740991	19740991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggcactgatgtgatgggGgtctcctcgcacagcttgga	6	10	15	10	1	1	2	0	2	1	0	3	3	1	3	1	4	1	3	1	4	0	1	rs144936310	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19740991G>A	ENST00000203556.4	-	21	2831	c.2694C>T	c.(2692-2694)acC>acT	p.T898T	GMIP_ENST00000587238.1_Silent_p.T872T|GMIP_ENST00000445806.2_Silent_p.T869T	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	898					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATGTGATGGGGGTCTCCTCGC	0.701													A	19740991	G	A	19740991	2	1	364	1	0	0	0	0	0	0	0	1	6547	1219	43	2		2	GMIP	19	19740991	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85694	19740991	39387992	13515	37017											
GMIP	51291	broad.mit.edu	37	chr19	19741109	19741109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtggccacgagactgtGtccccaggagtgagtcctct	8	9	13	11	1	1	3	0	2	1	1	3	5	3	4	4	2	0	0	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19741109G>A	ENST00000203556.4	-	21	2713	c.2576C>T	c.(2575-2577)aCa>aTa	p.T859I	GMIP_ENST00000587238.1_Missense_Mutation_p.T833I|GMIP_ENST00000445806.2_Missense_Mutation_p.T830I	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	859					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ACGAGACTGTGTCCCCAGGAG	0.627													A	19741109	G	A	19741109	3	1	364	1	0	0	0	0	1	0	0	0	6547	1377	48	2	340	2	GMIP	19	19741109	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	118	19741109	39387874	13516	37018											
GMIP	51291	broad.mit.edu	37	chr19	19746001	19746001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggagagtctccaggcagcGcttgtggcaggtcagaaagc	10	6	15	10	1	2	2	1	0	1	2	3	3	2	2	1	4	2	3	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19746001G>A	ENST00000203556.4	-	16	1719	c.1582C>T	c.(1582-1584)Cgc>Tgc	p.R528C	GMIP_ENST00000587238.1_Missense_Mutation_p.R502C|GMIP_ENST00000586269.1_5'UTR|GMIP_ENST00000445806.2_Missense_Mutation_p.R499C	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	528					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCAGGCAGCGCTTGTGGCAG	0.582													A	19746001	G	A	19746001	3	1	364	1	0	0	0	0	1	0	0	0	6547	1087	38	1	1354	1	GMIP	19	19746001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4892	19746001	39382982	13517	37019											
ATP13A1	57130	broad.mit.edu	37	chr19	19770598	19770598	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacctcaagcccgtcttcGccctgcggtagaaggtgtgt	7	9	12	13	3	2	1	1	0	1	1	3	1	2	1	3	2	3	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19770598G>A	ENST00000357324.6	-	3	515	c.489C>T	c.(487-489)ggC>ggT	p.G163G	ATP13A1_ENST00000291503.5_Silent_p.G45G	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	163					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCCCGTCTTCGCCCTGCGGTA	0.587													A	19770598	G	A	19770598	2	1	364	1	0	0	0	0	0	0	0	1	1128	1074	38	1		1	ATP13A1	19	19770598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24597	19770598	39358385	13518	37020											
ZNF101	94039	broad.mit.edu	37	chr19	19790898	19790898	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggagaaaagccatatgAatgtacaaggtgtggtaaag	16	9	13	3	0	0	2	0	1	0	1	0	3	0	2	1	3	2	2	1	3	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19790898A>C	ENST00000592502.1	+	4	1210	c.1100A>C	c.(1099-1101)gAa>gCa	p.E367A	ZNF101_ENST00000415784.2_Missense_Mutation_p.E247A			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E367V(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AAGCCATATGAATGTACAAGG	0.388													C	19790898	A	C	19790898	3	2	364	1	0	0	0	0	1	0	0	0	17815	246	9	5	1114	5	ZNF101	19	19790898	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20300	19790898	39338085	13519	37021											
ZNF14	7561	broad.mit.edu	37	chr19	19822991	19822991	+	Nonsense_Mutation	SNP	G	G	A																															actgaatgatttgccacatcGtttacattcatatggttttt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822991G>A	ENST00000344099.3	-	4	1237	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TTGCCACATCGTTTACATTCA	0.363													A	19822991	G	A	19822991	4	1	364	1	0	0	0	0	0	1	0	0	17829	1153	40	1	833	1	ZNF14	19	19822991	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32093	19822991	39305992	13520	37022	111	2									
ZNF14	7561	broad.mit.edu	37	chr19	19822999	19822999	+	Missense_Mutation	SNP	T	T	C																															atttgccacatcgtttacatTcatatggtttttctccaata																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19822999T>C	ENST00000344099.3	-	4	1229	c.1091A>G	c.(1090-1092)gAa>gGa	p.E364G		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	364					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TCGTTTACATTCATATGGTTT	0.388													C	19822999	T	C	19822999	3	2	364	1	0	0	0	0	1	0	0	0	17829	1783	62	3	841	3	ZNF14	19	19822999	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8	19822999	39305984	13521	37023	111	2									
ZNF506	440515	broad.mit.edu	37	chr19	19917798	19917798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaacatcacatccctatatAgattccgctgtgcagcgtcc	10	11	6	14	2	1	1	1	0	0	1	4	1	4	1	3	0	3	2	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:19917798A>G	ENST00000443905.2	-	2	230	c.83T>C	c.(82-84)cTa>cCa	p.L28P	ZNF506_ENST00000587461.1_Missense_Mutation_p.L28P|ZNF506_ENST00000450683.2_Missense_Mutation_p.L28P|ZNF506_ENST00000540806.2_Missense_Mutation_p.L28P|CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000545006.1_Missense_Mutation_p.L28P|ZNF506_ENST00000587452.1_Missense_Mutation_p.L28P|CTC-559E9.6_ENST00000591884.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	28	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						ATCCCTATATAGATTCCGCTG	0.398													G	19917798	A	G	19917798	3	3	364	1	0	0	0	0	1	0	0	0	18053	420	15	3	1263	3	ZNF506	19	19917798	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94799	19917798	39211185	13522	37024											
ZNF93	81931	broad.mit.edu	37	chr19	20027398	20027398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaagccagacctgatcGcccatctggagcaaggaaaa	13	7	9	12	1	2	2	0	1	2	1	4	4	2	4	3	2	2	1	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20027398G>A	ENST00000343769.5	+	3	188	c.160G>A	c.(160-162)Gcc>Acc	p.A54T	ZNF93_ENST00000591366.1_Missense_Mutation_p.A54T|ZNF93_ENST00000592160.1_Missense_Mutation_p.A54T|AC007204.2_ENST00000592245.1_lincRNA	NM_031218.3	NP_112495.2	P35789	ZNF93_HUMAN	zinc finger protein 93	54	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A54T(1)		endometrium(6)|kidney(2)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	24						AGACCTGATCGCCCATCTGGA	0.403													A	20027398	G	A	20027398	3	1	364	1	0	0	0	0	1	0	0	0	18301	1087	38	1	170	1	ZNF93	19	20027398	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109600	20027398	39101585	13523	37025											
ZNF682	91120	broad.mit.edu	37	chr19	20117136	20117136	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgtagggtttctctccaGtgtgaattctcttgtgttta	6	20	9	6	0	2	1	0	1	2	0	5	1	3	1	1	1	0	3	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20117136G>T	ENST00000397165.2	-	4	1335	c.1175C>A	c.(1174-1176)aCt>aAt	p.T392N	ZNF682_ENST00000358523.5_Missense_Mutation_p.T360N|ZNF682_ENST00000397162.1_Missense_Mutation_p.T360N|ZNF682_ENST00000597972.1_Missense_Mutation_p.T398N|ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000595736.1_Missense_Mutation_p.T316N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TTTCTCTCCAGTGTGAATTCT	0.378													T	20117136	G	T	20117136	3	4	364	1	0	0	0	0	1	0	0	0	18190	1029	36	4	325	4	ZNF682	19	20117136	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89738	20117136	39011847	13524	37026											
ZNF486	90649	broad.mit.edu	37	chr19	20295172	20295172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtttttcaggaatcatTgcaatttagagatgtggctg	9	16	12	4	0	2	1	2	0	0	1	2	3	2	2	0	2	1	3	0	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20295172T>C	ENST00000335117.8	+	2	95	c.38T>C	c.(37-39)tTg>tCg	p.L13S	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|ZNF486_ENST00000597083.1_Missense_Mutation_p.L13S|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	13	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						CAGGAATCATTGCAATTTAGA	0.403													C	20295172	T	C	20295172	3	2	364	1	0	0	0	0	1	0	0	0	18040	1821	63	3	44	3	ZNF486	19	20295172	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	178036	20295172	38833811	13525	37027											
ZNF486	90649	broad.mit.edu	37	chr19	20307822	20307822	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccagagcagagcataaaAgattcttaccaaaaagtgat	17	8	9	7	0	1	4	0	1	1	3	1	4	1	4	2	1	3	2	2	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20307822A>C	ENST00000335117.8	+	4	360	c.303A>C	c.(301-303)aaA>aaC	p.K101N	CTC-260E6.6_ENST00000585498.1_RNA|CTC-260E6.6_ENST00000586657.1_RNA|CTC-260E6.6_ENST00000593655.1_RNA	NM_052852.3	NP_443084.2	Q96H40	ZN486_HUMAN	zinc finger protein 486	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	11						AGAGCATAAAAGATTCTTACC	0.343													C	20307822	A	C	20307822	3	2	364	1	0	0	0	0	1	0	0	0	18040	69	3	5	317	5	ZNF486	19	20307822	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12650	20307822	38821161	13526	37028											
ZNF626	199777	broad.mit.edu	37	chr19	20808170	20808170	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattctatatatttgaaaggTtttttcccagtatgtcctct	9	19	5	8	0	2	1	0	1	2	0	4	1	4	1	2	1	0	2	2	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808170T>C	ENST00000601440.1	-	4	659	c.513A>G	c.(511-513)aaA>aaG	p.K171K	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						ATTTGAAAGGTTTTTTCCCAG	0.343													C	20808170	T	C	20808170	2	2	364	1	0	0	0	0	0	0	0	1	18151	1722	60	3		3	ZNF626	19	20808170	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	500348	20808170	38320813	13527	37029											
ZNF626	199777	broad.mit.edu	37	chr19	20808276	20808276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttggggtagttgtcaaaCattggttaagttcattataa	11	17	9	4	0	3	0	2	0	1	0	3	0	3	0	0	3	1	4	0	3	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:20808276C>T	ENST00000601440.1	-	4	553	c.407G>A	c.(406-408)tGt>tAt	p.C136Y	CTC-513N18.7_ENST00000595094.1_lincRNA	NM_001076675.2	NP_001070143.1	Q68DY1	ZN626_HUMAN	zinc finger protein 626	136					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|lung(3)|skin(1)	6						AGTTGTCAAACATTGGTTAAG	0.328													T	20808276	C	T	20808276	3	4	364	1	0	0	0	0	1	0	0	0	18151	478	17	2	1183	2	ZNF626	19	20808276	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106	20808276	38320707	13528	37030											
ZNF85	7639	broad.mit.edu	37	chr19	21131627	21131627	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaaaaagtgacactgaaaAgatatggaaaatgtagacat	20	8	8	5	0	0	4	0	2	0	2	1	5	1	5	1	1	0	1	1	1	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131627A>C	ENST00000601023.1	+	2	776	c.130A>C	c.(130-132)Aga>Cga	p.R44R	ZNF85_ENST00000328178.8_Silent_p.R103R|ZNF85_ENST00000345030.6_Silent_p.R70R|ZNF85_ENST00000597314.1_3'UTR			Q03923	ZNF85_HUMAN	zinc finger protein 85	103	KRAB.					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						GACACTGAAAAGATATGGAAA	0.348													C	21131627	A	C	21131627	2	2	364	1	0	0	0	0	0	0	0	1	18292	64	3	5		5	ZNF85	19	21131627	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	323351	21131627	37997356	13529	37031											
ZNF85	7639	broad.mit.edu	37	chr19	21131860	21131860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaatgtacaaaatgtggCaaatcatttggcatgatttc	14	14	7	6	0	2	1	2	1	0	0	3	1	2	1	0	2	1	3	0	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21131860C>T	ENST00000601023.1	+	2	1009	c.363C>T	c.(361-363)ggC>ggT	p.G121G	ZNF85_ENST00000328178.8_Silent_p.G180G|ZNF85_ENST00000345030.6_Silent_p.G147G			Q03923	ZNF85_HUMAN	zinc finger protein 85	180						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						CAAAATGTGGCAAATCATTTG	0.303													T	21131860	C	T	21131860	2	4	364	1	0	0	0	0	0	0	0	1	18292	697	25	2		2	ZNF85	19	21131860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233	21131860	37997123	13530	37032											
ZNF431	170959	broad.mit.edu	37	chr19	21366001	21366001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggcaaagccttcaacCggtcctcacaccttactaca	12	9	6	14	1	2	0	2	0	0	0	3	0	3	0	4	2	4	1	4	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366001C>T	ENST00000311048.7	+	5	1039	c.895C>T	c.(895-897)Cgg>Tgg	p.R299W	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	299					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						AGCCTTCAACCGGTCCTCACA	0.408													T	21366001	C	T	21366001	3	4	364	1	0	0	0	0	1	0	0	0	18006	643	23	1	913	1	ZNF431	19	21366001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234141	21366001	37762982	13531	37033											
ZNF431	170959	broad.mit.edu	37	chr19	21366678	21366678	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaagcctttaaccaatcCtcaactcttactaaacatag	15	11	4	11	0	2	0	1	0	1	0	3	0	3	0	3	1	5	1	3	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21366678C>A	ENST00000311048.7	+	5	1716	c.1572C>A	c.(1570-1572)tcC>tcA	p.S524S	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						TTAACCAATCCTCAACTCTTA	0.328													A	21366678	C	A	21366678	2	1	364	1	0	0	0	0	0	0	0	1	18006	668	24	4		4	ZNF431	19	21366678	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	677	21366678	37762305	13532	37034											
ZNF708	7562	broad.mit.edu	37	chr19	21476213	21476213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattatcttatgtttcataaGggttgaggactggttaaaag	13	15	10	3	0	2	1	1	1	1	0	2	2	2	2	0	3	0	3	0	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21476213G>T	ENST00000356929.3	-	4	1752	c.1555C>A	c.(1555-1557)Ctt>Att	p.L519I		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						TGTTTCATAAGGGTTGAGGAC	0.368													T	21476213	G	T	21476213	3	4	364	1	0	0	0	0	1	0	0	0	18213	1000	35	4	140	4	ZNF708	19	21476213	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	109535	21476213	37652770	13533	37035											
ZNF708	7562	broad.mit.edu	37	chr19	21477090	21477090	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttttccacattcttcAcatttgtagggtttctctcc	8	17	5	11	0	3	0	1	0	2	0	6	0	5	0	2	1	1	3	2	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21477090A>G	ENST00000356929.3	-	4	875	c.678T>C	c.(676-678)tgT>tgC	p.C226C		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	226					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						CACATTCTTCACATTTGTAGG	0.348													G	21477090	A	G	21477090	2	3	364	1	0	0	0	0	0	0	0	1	18213	157	6	3		3	ZNF708	19	21477090	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	877	21477090	37651893	13534	37036											
ZNF493	284443	broad.mit.edu	37	chr19	21607350	21607350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactggagaaaaaccctacaAatgtgaagaatgtggcaaag	18	7	10	6	0	0	3	0	1	0	2	0	4	0	3	1	2	3	1	1	2	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21607350A>G	ENST00000392288.2	+	4	1998	c.1889A>G	c.(1888-1890)aAa>aGa	p.K630R	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.K502R	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AAACCCTACAAATGTGAAGAA	0.388													G	21607350	A	G	21607350	3	3	364	1	0	0	0	0	1	0	0	0	18045	14	1	3	1966	3	ZNF493	19	21607350	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	130260	21607350	37521633	13535	37037											
ZNF429	353088	broad.mit.edu	37	chr19	21720457	21720457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaaattcatactggagaGaaaccttacaaatgtgaaga	20	8	8	5	0	1	4	1	1	0	3	1	6	1	5	1	1	3	0	1	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21720457G>A	ENST00000358491.4	+	4	1810	c.1602G>A	c.(1600-1602)gaG>gaA	p.E534E	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	534					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E534D(1)		endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						ATACTGGAGAGAAACCTTACA	0.363													A	21720457	G	A	21720457	2	1	364	1	0	0	0	0	0	0	0	1	18003	933	33	2		2	ZNF429	19	21720457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113107	21720457	37408526	13536	37038											
ZNF100	163227	broad.mit.edu	37	chr19	21909784	21909784	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcatcttatgggtagtaaGgtttgaggactcattaaaag	14	13	10	4	0	3	1	2	1	1	0	3	2	3	2	0	3	0	3	0	3	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21909784G>T	ENST00000358296.6	-	5	1528	c.1330C>A	c.(1330-1332)Ctt>Att	p.L444I	ZNF100_ENST00000305570.6_Missense_Mutation_p.L380I	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TGGGTAGTAAGGTTTGAGGAC	0.408													T	21909784	G	T	21909784	3	4	364	1	0	0	0	0	1	0	0	0	17814	1000	35	4	302	4	ZNF100	19	21909784	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189327	21909784	37219199	13537	37039											
ZNF100	163227	broad.mit.edu	37	chr19	21910280	21910280	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtatgaattatcttatgTgtagtaaggtgtgaggaccg	11	13	12	5	1	1	2	0	2	1	0	1	3	1	3	2	2	0	3	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21910280T>C	ENST00000358296.6	-	5	1032	c.834A>G	c.(832-834)acA>acG	p.T278T	ZNF100_ENST00000305570.6_Silent_p.T214T	NM_173531.3	NP_775802.2	Q8IYN0	ZN100_HUMAN	zinc finger protein 100	278					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	21						TTATCTTATGTGTAGTAAGGT	0.388													C	21910280	T	C	21910280	2	2	364	1	0	0	0	0	0	0	0	1	17814	1683	59	3		3	ZNF100	19	21910280	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	496	21910280	37218703	13538	37040											
ZNF43	7594	broad.mit.edu	37	chr19	21991967	21991967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attggttaaaagctttggcaCattctttacatttgtagaat	12	17	7	5	0	1	1	0	0	1	1	1	1	1	1	0	2	2	4	0	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:21991967C>T	ENST00000594012.1	-	7	1368	c.854G>A	c.(853-855)tGt>tAt	p.C285Y	ZNF43_ENST00000595461.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.C285Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.C291Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	291					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		AGCTTTGGCACATTCTTTACA	0.358													T	21991967	C	T	21991967	3	4	364	1	0	0	0	0	1	0	0	0	18004	478	17	2	1561	2	ZNF43	19	21991967	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81687	21991967	37137016	13539	37041											
ZNF43	7594	broad.mit.edu	37	chr19	22000714	22000714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttggctaccatttcatGtctcctcataggctcccaag	7	13	9	12	0	3	0	2	0	1	0	5	0	4	0	3	3	1	3	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22000714G>A	ENST00000594012.1	-	6	701	c.187C>T	c.(187-189)Cat>Tat	p.H63Y	ZNF43_ENST00000595461.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598381.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000598288.1_Missense_Mutation_p.H63Y|ZNF43_ENST00000354959.4_Missense_Mutation_p.H69Y	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	69	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		ACCATTTCATGTCTCCTCATA	0.428													A	22000714	G	A	22000714	3	1	364	1	0	0	0	0	1	0	0	0	18004	1377	48	2	2232	2	ZNF43	19	22000714	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8747	22000714	37128269	13540	37042											
ZNF676	163223	broad.mit.edu	37	chr19	22363485	22363485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattgaggatcgattaaaaGctttcccgcattcttcacat	11	13	8	9	2	2	1	1	1	1	0	4	4	3	3	1	2	1	2	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22363485G>A	ENST00000397121.2	-	3	1351	c.1034C>T	c.(1033-1035)gCt>gTt	p.A345V		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				TCGATTAAAAGCTTTCCCGCA	0.413													A	22363485	G	A	22363485	3	1	364	1	0	0	0	0	1	0	0	0	18184	971	34	2	736	2	ZNF676	19	22363485	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362771	22363485	36765498	13541	37043											
ZNF676	163223	broad.mit.edu	37	chr19	22375896	22375896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaaaaatgatcaggtctgGcttaaaggcagcaatacctg	15	8	10	8	0	2	2	1	1	1	1	2	2	2	2	1	3	2	3	1	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22375896G>A	ENST00000397121.2	-	2	369	c.52C>T	c.(52-54)Cca>Tca	p.P18S		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				ATCAGGTCTGGCTTAAAGGCA	0.408													A	22375896	G	A	22375896	3	1	364	1	0	0	0	0	1	0	0	0	18184	1203	42	2	1722	2	ZNF676	19	22375896	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12411	22375896	36753087	13542	37044											
ZNF492	57615	broad.mit.edu	37	chr19	22846798	22846798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtttgacgactacccaGaacaaaatatttcaatgtga	15	11	7	8	1	1	3	1	2	0	1	1	4	1	3	1	0	2	1	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22846798G>T	ENST00000456783.2	+	4	571	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				CGACTACCCAGAACAAAATAT	0.308													T	22846798	G	T	22846798	3	4	364	1	0	0	0	0	1	0	0	0	18044	933	33	4	337	4	ZNF492	19	22846798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	470902	22846798	36282185	13543	37045											
ZNF99	7652	broad.mit.edu	37	chr19	22940405	22940405	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgagaaatgcttaaaaGctttgccacattcttcacat	12	12	8	9	0	2	1	1	1	1	1	2	2	2	1	1	1	3	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:22940405G>T	ENST00000397104.3	-	5	2032	c.2033C>A	c.(2032-2034)gCt>gAt	p.A678D	ZNF99_ENST00000596209.1_Missense_Mutation_p.A769D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ATGCTTAAAAGCTTTGCCACA	0.353													T	22940405	G	T	22940405	3	4	364	1	0	0	0	0	1	0	0	0	18303	971	34	4	1091	4	ZNF99	19	22940405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93607	22940405	36188578	13544	37046											
ZNF91	7644	broad.mit.edu	37	chr19	23544668	23544668	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggtttctcttcagtatgAgttatcttatgattagcaag	10	17	9	5	0	3	2	1	2	2	0	4	2	3	2	0	1	1	4	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23544668A>G	ENST00000300619.7	-	4	1318	c.1113T>C	c.(1111-1113)acT>acC	p.T371T	ZNF91_ENST00000397082.2_Silent_p.T339T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	371						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CTTCAGTATGAGTTATCTTAT	0.348													G	23544668	A	G	23544668	2	3	364	1	0	0	0	0	0	0	0	1	18299	291	11	3		3	ZNF91	19	23544668	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	604263	23544668	35584315	13545	37047											
ZNF675	171392	broad.mit.edu	37	chr19	23836033	23836033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcaaaatcattatcacaCattccagttctgtagtttct	11	17	4	9	0	5	0	3	0	2	0	6	0	6	0	1	0	0	3	1	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23836033C>T	ENST00000359788.4	-	4	1870	c.1702G>A	c.(1702-1704)Gtg>Atg	p.V568M	ZNF675_ENST00000601935.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	568					bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTATCACACATTCCAGTTC	0.299													T	23836033	C	T	23836033	3	4	364	1	0	0	0	0	1	0	0	0	18183	478	17	2	8	2	ZNF675	19	23836033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291365	23836033	35292950	13546	37048											
ZNF681	148213	broad.mit.edu	37	chr19	23926698	23926698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtatgaattaccttatGtgtagcaagatgtgaggaat	13	13	10	5	0	0	3	0	2	0	1	1	4	1	4	2	1	2	3	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:23926698G>A	ENST00000402377.3	-	4	1795	c.1654C>T	c.(1654-1656)Cat>Tat	p.H552Y	ZNF681_ENST00000395385.3_Missense_Mutation_p.H483Y	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATTACCTTATGTGTAGCAAGA	0.383													A	23926698	G	A	23926698	3	1	364	1	0	0	0	0	1	0	0	0	18189	1377	48	2	287	2	ZNF681	19	23926698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90665	23926698	35202285	13547	37049											
ZNF254	9534	broad.mit.edu	37	chr19	24310260	24310260	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cataagaggatgcacactggAgagaaaccctacaaatgtga	17	6	10	8	0	0	3	0	1	0	2	0	6	0	5	1	2	3	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:24310260A>T	ENST00000357002.4	+	4	1573	c.1458A>T	c.(1456-1458)ggA>ggT	p.G486G	ZNF254_ENST00000342944.6_Silent_p.G401G	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	486					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				TGCACACTGGAGAGAAACCCT	0.388													T	24310260	A	T	24310260	2	4	364	1	0	0	0	0	0	0	0	1	17899	291	11	5		5	ZNF254	19	24310260	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	383562	24310260	34818723	13548	37050											
ZNF536	9745	broad.mit.edu	37	chr19	30934888	30934888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctgcggcaagcgcttccGcttcaacagcatcctctccc	7	9	7	18	3	3	0	1	0	2	0	6	0	5	0	3	1	4	4	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30934888G>A	ENST00000355537.3	+	2	566	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AAGCGCTTCCGCTTCAACAGC	0.637													A	30934888	G	A	30934888	3	1	364	1	0	0	0	0	1	0	0	0	18075	1087	38	1	421	1	ZNF536	19	30934888	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6624628	30934888	28194095	13549	37051											
ZNF536	9745	broad.mit.edu	37	chr19	30935223	30935223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accacagcgttcccgacgtgGcccacccggtgccctcgccc	5	5	10	21	5	0	0	0	0	0	0	2	1	1	0	6	2	2	1	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935223G>A	ENST00000355537.3	+	2	901	c.754G>A	c.(754-756)Gcc>Acc	p.A252T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	252					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					TCCCGACGTGGCCCACCCGGT	0.736													A	30935223	G	A	30935223	3	1	364	1	0	0	0	0	1	0	0	0	18075	1203	42	2	756	2	ZNF536	19	30935223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	335	30935223	28193760	13550	37052											
ZNF536	9745	broad.mit.edu	37	chr19	30935400	30935400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgacttcgcggcttcgCaggaggaggagctcatcagc	7	8	15	11	4	2	0	2	0	0	0	4	4	2	3	0	4	3	3	0	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:30935400C>T	ENST00000355537.3	+	2	1078	c.931C>T	c.(931-933)Cag>Tag	p.Q311*		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CGCGGCTTCGCAGGAGGAGGA	0.642													T	30935400	C	T	30935400	4	4	364	1	0	0	0	0	0	1	0	0	18075	711	25	2	933	2	ZNF536	19	30935400	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	30935400	28193583	13551	37053											
ZNF536	9745	broad.mit.edu	37	chr19	31040234	31040234	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcagtggcacagccaGggtcttctccaagcccagga	11	5	13	12	0	2	1	0	0	2	1	3	3	2	2	3	3	3	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:31040234G>T	ENST00000355537.3	+	4	3855	c.3708G>T	c.(3706-3708)caG>caT	p.Q1236H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1236					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.Q1236H(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GGCACAGCCAGGGTCTTCTCC	0.672													T	31040234	G	T	31040234	3	4	364	1	0	0	0	0	1	0	0	0	18075	991	35	4	3718	4	ZNF536	19	31040234	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104834	31040234	28088749	13552	37054											
ZNF507	22847	broad.mit.edu	37	chr19	32844172	32844172	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttaaaagatcatattaagCaacatggtcagcaaaatgaa	19	10	7	5	0	2	2	2	1	0	1	2	2	2	2	0	1	3	3	0	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844172C>T	ENST00000311921.4	+	2	628	c.436C>T	c.(436-438)Caa>Taa	p.Q146*	ZNF507_ENST00000544431.1_Nonsense_Mutation_p.Q146*|ZNF507_ENST00000355898.5_Nonsense_Mutation_p.Q146*	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TCATATTAAGCAACATGGTCA	0.418													T	32844172	C	T	32844172	4	4	364	1	0	0	0	0	0	1	0	0	18054	711	25	2	438	2	ZNF507	19	32844172	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1803938	32844172	26284811	13553	37055											
ZNF507	22847	broad.mit.edu	37	chr19	32844255	32844255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaacttgaagcccaCgtggtgaatgaccatgacaa	14	6	12	9	1	0	4	0	4	0	0	0	6	0	6	2	3	2	0	2	3	4	1	rs148132440		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844255C>T	ENST00000311921.4	+	2	711	c.519C>T	c.(517-519)caC>caT	p.H173H	ZNF507_ENST00000544431.1_Silent_p.H173H|ZNF507_ENST00000355898.5_Silent_p.H173H	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGAAGCCCACGTGGTGAATG	0.448													T	32844255	C	T	32844255	2	4	364	1	0	0	0	0	0	0	0	1	18054	535	19	1		1	ZNF507	19	32844255	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	83	32844255	26284728	13554	37056											
ZNF507	22847	broad.mit.edu	37	chr19	32844567	32844567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggaggttgattgctcCtatccaatctttgaaaatga	10	13	11	7	0	1	3	0	3	1	0	3	4	3	4	2	3	1	3	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844567C>A	ENST00000311921.4	+	2	1023	c.831C>A	c.(829-831)tcC>tcA	p.S277S	ZNF507_ENST00000544431.1_Silent_p.S277S|ZNF507_ENST00000355898.5_Silent_p.S277S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TTGATTGCTCCTATCCAATCT	0.478													A	32844567	C	A	32844567	2	1	364	1	0	0	0	0	0	0	0	1	18054	668	24	4		4	ZNF507	19	32844567	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	312	32844567	26284416	13555	37057											
ZNF507	22847	broad.mit.edu	37	chr19	32844694	32844694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgagtatccacaatgggCcatcagtgcaagtgcagatt	13	9	10	9	0	1	2	1	1	0	1	2	2	2	2	2	1	3	3	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:32844694C>T	ENST00000311921.4	+	2	1150	c.958C>T	c.(958-960)Cca>Tca	p.P320S	ZNF507_ENST00000544431.1_Missense_Mutation_p.P320S|ZNF507_ENST00000355898.5_Missense_Mutation_p.P320S	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					CCACAATGGGCCATCAGTGCA	0.498													T	32844694	C	T	32844694	3	4	364	1	0	0	0	0	1	0	0	0	18054	739	26	2	960	2	ZNF507	19	32844694	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	32844694	26284289	13556	37058											
ANKRD27	84079	broad.mit.edu	37	chr19	33092956	33092956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taacagtgacatactccttgCggtcagtttcagccacatca	11	11	7	12	1	3	1	3	1	0	0	4	1	4	1	2	1	4	1	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33092956C>T	ENST00000306065.4	-	26	2890	c.2732G>A	c.(2731-2733)cGc>cAc	p.R911H		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	911					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					ATACTCCTTGCGGTCAGTTTC	0.383													T	33092956	C	T	33092956	3	4	364	1	0	0	0	0	1	0	0	0	655	768	27	1	436	1	ANKRD27	19	33092956	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248262	33092956	26036027	13557	37059											
NUDT19	390916	broad.mit.edu	37	chr19	33200138	33200138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtttcttatcaaaagaaatTtggttgccacccccacagtt	12	13	6	10	0	2	1	1	0	1	1	2	1	2	1	3	1	1	3	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33200138T>C	ENST00000397061.3	+	2	762	c.762T>C	c.(760-762)atT>atC	p.I254I		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	254	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					CAAAAGAAATTTGGTTGCCAC	0.428													C	33200138	T	C	33200138	2	2	364	1	0	0	0	0	0	0	0	1	10812	1829	64	3		3	NUDT19	19	33200138	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107182	33200138	25928845	13558	37060											
SLC7A9	11136	broad.mit.edu	37	chr19	33334843	33334843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtgaccctcccggcccGccacgtaaatgagtctggaa	9	7	11	14	3	1	2	0	2	1	0	2	3	2	3	4	2	0	2	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33334843G>A	ENST00000023064.4	-	10	1183	c.992C>T	c.(991-993)gCg>gTg	p.A331V	SLC7A9_ENST00000587772.1_Missense_Mutation_p.A331V|SLC7A9_ENST00000590341.1_Missense_Mutation_p.A331V	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	331			A -> V (in CSNU; non-classic type I).		blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	CTCCCGGCCCGCCACGTAAAT	0.572													A	33334843	G	A	33334843	3	1	364	1	0	0	0	0	1	0	0	0	14799	1087	38	1	487	1	SLC7A9	19	33334843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134705	33334843	25794140	13559	37061											
SLC7A9	11136	broad.mit.edu	37	chr19	33355633	33355633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggggaaacgaagatcccaGagccaatgatggtgcccacg	12	5	14	10	2	0	3	0	1	0	2	1	5	1	4	3	3	3	0	3	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33355633G>A	ENST00000023064.4	-	3	328	c.137C>T	c.(136-138)tCt>tTt	p.S46F	SLC7A9_ENST00000587772.1_Missense_Mutation_p.S46F|SLC7A9_ENST00000590341.1_Missense_Mutation_p.S46F	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	46					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GAAGATCCCAGAGCCAATGAT	0.632													A	33355633	G	A	33355633	3	1	364	1	0	0	0	0	1	0	0	0	14799	942	33	2	1370	2	SLC7A9	19	33355633	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20790	33355633	25773350	13560	37062											
WDR88	126248	broad.mit.edu	37	chr19	33666397	33666397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggatagatacaaggggCttgccagcagatacttcatc	11	9	11	10	1	1	2	1	0	0	2	2	3	1	3	2	3	5	2	2	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33666397C>T	ENST00000355868.3	+	11	1414	c.1338C>T	c.(1336-1338)ggC>ggT	p.G446G	WDR88_ENST00000361680.2_3'UTR	NM_173479.3	NP_775750.3	Q6ZMY6	WDR88_HUMAN	WD repeat domain 88	446										breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25	Esophageal squamous(110;0.137)					ATACAAGGGGCTTGCCAGCAG	0.517													T	33666397	C	T	33666397	2	4	364	1	0	0	0	0	0	0	0	1	17437	784	28	2		2	WDR88	19	33666397	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	310764	33666397	25462586	13561	37063											
CEBPG	1054	broad.mit.edu	37	chr19	33870462	33870463	+	Frame_Shift_Ins	INS	-	-	A																															gagaatgaacggttggaagcINSaaaaatcaaattgctgacca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:33870462_33870463insA	ENST00000284000.4	+	2	979_980	c.317_318insA	c.(316-321)gcaaaafs	p.AK106fs	CEBPG_ENST00000585933.2_Frame_Shift_Ins_p.AK106fs	NM_001806.3	NP_001797.1	P53567	CEBPG_HUMAN	CCAAT/enhancer binding protein (C/EBP), gamma		Leucine-zipper.				B cell differentiation|enucleate erythrocyte differentiation|liver development|natural killer cell mediated cytotoxicity|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of DNA binding|positive regulation of DNA repair|positive regulation of interferon-gamma biosynthetic process|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	7	Esophageal squamous(110;0.137)					CGGTTGGAAGCAAAAATCAAAT	0.416													A	33870463	-	A	33870462	7	5	364	1	0	1	1	0	0	0	0	0	3233	710	25	0	319	0	CEBPG	19	33870462	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	204065	33870462	25258521	13562	37064											
CHST8	64377	broad.mit.edu	37	chr19	34263486	34263486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgagcccttcgagaggctgGtgtccgccttccgcgacaag	6	7	14	14	5	0	1	0	0	0	1	3	4	2	1	4	2	1	1	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34263486G>A	ENST00000262622.4	+	4	1551	c.793G>A	c.(793-795)Gtg>Atg	p.V265M	CHST8_ENST00000438847.3_Missense_Mutation_p.V265M|CHST8_ENST00000434302.1_Missense_Mutation_p.V265M	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					CGAGAGGCTGGTGTCCGCCTT	0.622													A	34263486	G	A	34263486	3	1	364	1	0	0	0	0	1	0	0	0	3440	1261	44	2	803	2	CHST8	19	34263486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	393024	34263486	24865497	13563	37065											
LSM14A	26065	broad.mit.edu	37	chr19	34710693	34710693	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacccaaaacagtgaaggAaatgccgatgaagaagatcc	18	5	10	8	1	0	4	0	2	0	2	1	7	1	5	3	1	3	0	3	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34710693A>G	ENST00000544216.3	+	8	1124	c.1047A>G	c.(1045-1047)ggA>ggG	p.G349G	LSM14A_ENST00000433627.5_Silent_p.G349G|LSM14A_ENST00000540746.2_Silent_p.G308G	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	349					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					ACAGTGAAGGAAATGCCGATG	0.353													G	34710693	A	G	34710693	2	3	364	1	0	0	0	0	0	0	0	1	9124	233	9	3		3	LSM14A	19	34710693	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	447207	34710693	24418290	13564	37066											
KIAA0355	9710	broad.mit.edu	37	chr19	34791788	34791788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctcggccataaagcCtgagatcgccaagatgctaa	12	7	10	12	2	0	3	0	2	0	2	2	4	0	3	4	1	2	2	4	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34791788C>A	ENST00000299505.6	+	2	1283	c.410C>A	c.(409-411)cCt>cAt	p.P137H		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	137										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					GCCATAAAGCCTGAGATCGCC	0.493													A	34791788	C	A	34791788	3	1	364	1	0	0	0	0	1	0	0	0	8228	681	24	4	412	4	KIAA0355	19	34791788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81095	34791788	24337195	13565	37067											
KIAA0355	9710	broad.mit.edu	37	chr19	34810870	34810870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagtttttgactcatgCgttacagaaggtccagccgg	8	13	10	10	2	1	2	1	1	0	1	3	2	3	2	3	2	3	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34810870C>T	ENST00000299505.6	+	3	1427	c.554C>T	c.(553-555)gCg>gTg	p.A185V		NM_014686.3	NP_055501.2	O15063	K0355_HUMAN	KIAA0355	185										breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	41	Esophageal squamous(110;0.162)					TTGACTCATGCGTTACAGAAG	0.527													T	34810870	C	T	34810870	3	4	364	1	0	0	0	0	1	0	0	0	8228	768	27	1	560	1	KIAA0355	19	34810870	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19082	34810870	24318113	13566	37068											
GPI	2821	broad.mit.edu	37	chr19	34856219	34856219	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccagaagctgcagcaatgGtaccgcgagcaccgctccga	10	6	11	14	4	0	1	0	0	0	1	2	3	2	1	4	1	5	6	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34856219G>A	ENST00000415930.3	+	2	335	c.165G>A	c.(163-165)tgG>tgA	p.W55*	GPI_ENST00000586425.1_Nonsense_Mutation_p.W16*|GPI_ENST00000356487.5_Nonsense_Mutation_p.W16*	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	16					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TGCAGCAATGGTACCGCGAGC	0.667													A	34856219	G	A	34856219	4	1	364	1	0	0	0	0	0	1	0	0	6665	1270	44	2	171	2	GPI	19	34856219	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45349	34856219	24272764	13567	37069											
GPI	2821	broad.mit.edu	37	chr19	34890140	34890140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaacttcttggcccagaCagaggccctgatgaggggaa	10	6	14	11	0	1	4	0	2	1	2	1	5	1	5	3	5	1	0	3	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34890140C>T	ENST00000415930.3	+	15	1501	c.1331C>T	c.(1330-1332)aCa>aTa	p.T444I	GPI_ENST00000586425.1_Missense_Mutation_p.T433I|GPI_ENST00000356487.5_Missense_Mutation_p.T433I	NM_001184722.1	NP_001171651.1	P06744	G6PI_HUMAN	glucose-6-phosphate isomerase	433					angiogenesis|gluconeogenesis|glycolysis|hemostasis|humoral immune response	cytosol|extracellular space|nucleus|plasma membrane	cytokine activity|glucose-6-phosphate isomerase activity|growth factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	25	Esophageal squamous(110;0.162)					TTGGCCCAGACAGAGGCCCTG	0.587													T	34890140	C	T	34890140	3	4	364	1	0	0	0	0	1	0	0	0	6665	478	17	2	1477	2	GPI	19	34890140	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33921	34890140	24238843	13568	37070											
UBA2	10054	broad.mit.edu	37	chr19	34935965	34935965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatggtgacattaaacGtatttctactaaggaatggg	14	12	11	4	1	1	3	0	2	1	1	1	4	1	4	0	3	2	1	0	3	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34935965G>A	ENST00000439527.2	+	8	920	c.422G>A	c.(421-423)cGt>cAt	p.R141H	UBA2_ENST00000246548.4_Missense_Mutation_p.R237H			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	237					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GACATTAAACGTATTTCTACT	0.328													A	34935965	G	A	34935965	3	1	364	1	0	0	0	0	1	0	0	0	16930	1145	40	1	740	1	UBA2	19	34935965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45825	34935965	24193018	13569	37071											
UBA2	10054	broad.mit.edu	37	chr19	34936026	34936026	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagttaaactttttaccaaGgttagatttactttttttat	11	20	4	6	0	0	1	0	0	0	1	0	1	0	1	2	1	3	2	2	1	7	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:34936026G>T	ENST00000439527.2	+	8	981	c.483G>T	c.(481-483)aaG>aaT	p.K161N	UBA2_ENST00000246548.4_Splice_Site_p.K257N			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	257					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			TTTTTACCAAGGTTAGATTTA	0.308													T	34936026	G	T	34936026	5	4	364	1	0	0	0	0	0	0	1	0	16930	1014	35	4	801	4	UBA2	19	34936026	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61	34936026	24192957	13570	37072											
ZNF302	55900	broad.mit.edu	37	chr19	35175594	35175594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaacagtcaatcctcagtCgccactggagaattcataca	14	8	7	12	1	3	1	3	0	0	1	5	2	4	1	2	1	2	1	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35175594C>T	ENST00000505242.1	+	5	1146	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ZNF302_ENST00000423823.2_Missense_Mutation_p.R218C|ZNF302_ENST00000457781.2_Missense_Mutation_p.R218C|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000446502.2_Missense_Mutation_p.R262C			Q9NR11	ZN302_HUMAN	zinc finger protein 302	297					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			AATCCTCAGTCGCCACTGGAG	0.448													T	35175594	C	T	35175594	3	4	364	1	0	0	0	0	1	0	0	0	17933	884	31	1	666	1	ZNF302	19	35175594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	239568	35175594	23953389	13571	37073											
ZNF30	90075	broad.mit.edu	37	chr19	35435001	35435002	+	Frame_Shift_Ins	INS	-	-	G																															cctacggatgcaaggaatgcINSgggagaaccttcagtcgtgc																								rs78688282	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35435001_35435002insG	ENST00000439785.1	+	5	1578_1579	c.1134_1135insG	c.(1135-1137)gggfs	p.G379fs	ZNF30_ENST00000601142.1_Frame_Shift_Ins_p.G378fs|ZNF30_ENST00000426813.2_Frame_Shift_Ins_p.G297fs|ZNF30_ENST00000303586.7_Frame_Shift_Ins_p.G379fs|ZNF30_ENST00000601957.1_3'UTR	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	378			R -> K (in dbSNP:rs1345658).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		GCAAGGAATGCGGGAGAACCTT	0.46													G	35435002	-	G	35435001	7	5	364	1	0	1	1	0	0	0	0	0	17931	776	27	0	1148	0	ZNF30	19	35435001	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	259407	35435001	23693982	13572	37074											
ZNF792	126375	broad.mit.edu	37	chr19	35450383	35450383	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcttctgggggcacaGagttgcctcgggactcctgt	5	10	15	11	1	2	1	0	0	2	1	4	2	3	2	2	4	1	3	2	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35450383G>T	ENST00000404801.1	-	4	762	c.376C>A	c.(376-378)Ctg>Atg	p.L126M	ZNF792_ENST00000605484.1_Missense_Mutation_p.L59M	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TGGGGGCACAGAGTTGCCTCG	0.507													T	35450383	G	T	35450383	3	4	364	1	0	0	0	0	1	0	0	0	18263	933	33	4	1526	4	ZNF792	19	35450383	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15382	35450383	23678600	13573	37075											
GRAMD1A	57655	broad.mit.edu	37	chr19	35510153	35510153	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagcgccgggtgctgacGtacaccatccccatcagcaa	10	5	9	17	3	1	1	1	1	0	0	2	1	2	1	5	1	4	3	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35510153G>A	ENST00000599564.1	+	13	1604	c.1533G>A	c.(1531-1533)acG>acA	p.T511T	GRAMD1A_ENST00000411896.2_Silent_p.T417T|CTD-2527I21.14_ENST00000605640.1_RNA|GRAMD1A_ENST00000317991.5_Silent_p.T424T|GRAMD1A_ENST00000504615.2_Silent_p.T190T			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	424						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGTGCTGACGTACACCATCC	0.682													A	35510153	G	A	35510153	2	1	364	1	0	0	0	0	0	0	0	1	6802	1132	40	1		1	GRAMD1A	19	35510153	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59770	35510153	23618830	13574	37076											
FAM187B	148109	broad.mit.edu	37	chr19	35719072	35719072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcatggcttcctccagaGgctcctcaatgtagcggtac	8	9	12	12	1	1	1	1	0	0	1	4	1	4	1	3	4	2	5	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35719072G>T	ENST00000324675.3	-	1	560	c.512C>A	c.(511-513)cCt>cAt	p.P171H		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	171						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						TTCCTCCAGAGGCTCCTCAAT	0.617													T	35719072	G	T	35719072	3	4	364	1	0	0	0	0	1	0	0	0	5559	1000	35	4	605	4	FAM187B	19	35719072	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	208919	35719072	23409911	13575	37077											
LSR	51599	broad.mit.edu	37	chr19	35741347	35741347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccatcgtcatctggaagtAcaagtctttctgccgggacc	9	10	9	13	2	4	0	1	0	3	0	5	2	4	2	3	2	2	1	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35741347A>G	ENST00000602122.1	+	2	870	c.383A>G	c.(382-384)tAc>tGc	p.Y128C	LSR_ENST00000347609.4_Missense_Mutation_p.Y91C|LSR_ENST00000360798.3_Missense_Mutation_p.Y128C|LSR_ENST00000427250.1_Missense_Mutation_p.Y80C|LSR_ENST00000361790.3_Missense_Mutation_p.Y128C|LSR_ENST00000354900.3_Missense_Mutation_p.Y128C|LSR_ENST00000597933.1_3'UTR			Q86X29	LSR_HUMAN	lipolysis stimulated lipoprotein receptor	128	Ig-like V-type.				embryo development|liver development	chylomicron|integral to membrane|low-density lipoprotein particle|plasma membrane|very-low-density lipoprotein particle	receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	13	all_lung(56;3.91e-09)|Lung NSC(56;5.64e-09)|Esophageal squamous(110;0.162)		Epithelial(14;1.33e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.29e-18)|all cancers(14;7.11e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			ATCTGGAAGTACAAGTCTTTC	0.617													G	35741347	A	G	35741347	3	3	364	1	0	0	0	0	1	0	0	0	9134	391	14	3	389	3	LSR	19	35741347	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	22275	35741347	23387636	13576	37078											
USF2	7392	broad.mit.edu	37	chr19	35761456	35761456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccagtgtgggagatactaCggctgtgtccgtacagacca	9	9	13	10	2	0	2	0	0	0	2	2	3	2	2	3	2	3	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35761456C>T	ENST00000222305.3	+	5	573	c.536C>T	c.(535-537)aCg>aTg	p.T179M	USF2_ENST00000595068.1_Missense_Mutation_p.T179M|USF2_ENST00000379134.3_Intron|USF2_ENST00000343550.5_Missense_Mutation_p.T112M|USF2_ENST00000594064.1_Missense_Mutation_p.T177M	NM_003367.2	NP_003358.1	Q15853	USF2_HUMAN	upstream transcription factor 2, c-fos interacting	179					lipid homeostasis|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter by glucose	nucleus	bHLH transcription factor binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|urinary_tract(1)	13	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)		Epithelial(14;7.4e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.47e-19)|all cancers(14;4.17e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGAGATACTACGGCTGTGTCC	0.607													T	35761456	C	T	35761456	3	4	364	1	0	0	0	0	1	0	0	0	17135	536	19	1	554	1	USF2	19	35761456	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20109	35761456	23367527	13577	37079											
CD22	933	broad.mit.edu	37	chr19	35827141	35827141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacccggagcgagctcaaGttctccccacagtggagtca	9	8	10	14	2	4	0	3	0	1	0	5	3	4	2	3	2	2	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35827141G>A	ENST00000085219.5	+	4	681	c.615G>A	c.(613-615)aaG>aaA	p.K205K	CD22_ENST00000544992.2_Silent_p.K205K|CD22_ENST00000270311.6_Silent_p.K85K|CD22_ENST00000594250.1_Silent_p.K205K|CD22_ENST00000419549.2_Silent_p.K33K|CD22_ENST00000536635.2_Silent_p.K205K|CD22_ENST00000341773.6_Silent_p.K205K	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	205	Ig-like C2-type 1.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GCGAGCTCAAGTTCTCCCCAC	0.557													A	35827141	G	A	35827141	2	1	364	1	0	0	0	0	0	0	0	1	3015	1020	36	2		2	CD22	19	35827141	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65685	35827141	23301842	13578	37080											
CD22	933	broad.mit.edu	37	chr19	35835805	35835805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatcctcatcctggcaatCtgtgggctcaagctccagcg	7	9	10	15	1	3	0	2	0	1	0	6	0	6	0	4	2	2	3	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35835805C>A	ENST00000085219.5	+	10	2175	c.2109C>A	c.(2107-2109)atC>atA	p.I703I	CD22_ENST00000544992.2_Silent_p.I703I|CD22_ENST00000270311.6_Silent_p.I583I|CD22_ENST00000594250.1_Silent_p.I526I|CD22_ENST00000419549.2_Silent_p.I531I|CD22_ENST00000536635.2_Silent_p.I615I|CD22_ENST00000341773.6_Silent_p.I526I	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	703					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	TCCTGGCAATCTGTGGGCTCA	0.617													A	35835805	C	A	35835805	2	1	364	1	0	0	0	0	0	0	0	1	3015	903	32	4		4	CD22	19	35835805	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8664	35835805	23293178	13579	37081											
FFAR2	2867	broad.mit.edu	37	chr19	35940854	35940854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgctggtacctgcccaagGtcgtctgcgccctcacgagt	5	9	11	16	4	2	0	1	0	1	0	4	1	3	0	4	2	3	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35940854G>A	ENST00000599180.2	+	2	318	c.238G>A	c.(238-240)Gtc>Atc	p.V80I	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.V80I			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCTGCCCAAGGTCGTCTGCGC	0.622													A	35940854	G	A	35940854	3	1	364	1	0	0	0	0	1	0	0	0	5877	1261	44	2	240	2	FFAR2	19	35940854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105049	35940854	23188129	13580	37082											
DMKN	93099	broad.mit.edu	37	chr19	35991443	35991443	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactcacctgatcgtCtctgcctgcacgtttctgca	8	11	8	14	2	3	2	1	1	2	1	5	3	3	2	2	0	3	3	2	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:35991443C>A	ENST00000339686.3	-	12	1455	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	DMKN_ENST00000492341.2_Missense_Mutation_p.D74Y|DMKN_ENST00000443640.1_Missense_Mutation_p.D190Y|DMKN_ENST00000419602.1_Missense_Mutation_p.D416Y|DMKN_ENST00000467637.1_Missense_Mutation_p.D152Y|DMKN_ENST00000602781.1_Missense_Mutation_p.D140Y|DMKN_ENST00000408915.2_Missense_Mutation_p.D41Y|DMKN_ENST00000414866.2_Missense_Mutation_p.D140Y|DMKN_ENST00000436012.1_Missense_Mutation_p.D123Y|DMKN_ENST00000462126.1_5'UTR|DMKN_ENST00000472252.2_Missense_Mutation_p.D74Y|DMKN_ENST00000429837.1_Missense_Mutation_p.D386Y|DMKN_ENST00000402589.2_Missense_Mutation_p.D140Y|DMKN_ENST00000480502.1_Missense_Mutation_p.D121Y	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	427			D -> A (in dbSNP:rs909072).			extracellular region				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ACCTGATCGTCTCTGCCTGCA	0.597													A	35991443	C	A	35991443	3	1	364	1	0	0	0	0	1	0	0	0	4621	913	32	4	213	4	DMKN	19	35991443	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50589	35991443	23137540	13581	37083											
SBSN	374897	broad.mit.edu	37	chr19	36017820	36017820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctggccaaactgccctGcctccttcccggcctcgtgg	3	9	9	20	2	0	0	0	0	0	0	4	0	3	0	7	3	3	0	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36017820G>A	ENST00000452271.2	-	1	1392	c.1364C>T	c.(1363-1365)gCa>gTa	p.A455V	SBSN_ENST00000518157.1_Intron	NM_001166034.1	NP_001159506.1	Q6UWP8	SBSN_HUMAN	suprabasin	112						extracellular region				large_intestine(5)|lung(6)|ovary(1)|prostate(2)	14	all_lung(56;1.62e-08)|Lung NSC(56;2.47e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			AAACTGCCCTGCCTCCTTCCC	0.607													A	36017820	G	A	36017820	3	1	364	1	0	0	0	0	1	0	0	0	13956	1319	46	2	424	2	SBSN	19	36017820	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26377	36017820	23111163	13582	37084											
GAPDHS	26330	broad.mit.edu	37	chr19	36034625	36034625	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtctgtcgtggacctgAcctgccgcctcgcccagcct	4	10	11	16	3	1	1	0	1	1	0	3	2	1	2	6	1	2	0	6	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36034625A>G	ENST00000222286.4	+	9	1068	c.952A>G	c.(952-954)Acc>Gcc	p.T318A	AD000090.2_ENST00000589137.1_RNA|AD000090.2_ENST00000588286.1_RNA|AD000090.2_ENST00000444728.1_RNA|AD000090.2_ENST00000590717.1_RNA	NM_014364.4	NP_055179.1	O14556	G3PT_HUMAN	glyceraldehyde-3-phosphate dehydrogenase, spermatogenic	318					gluconeogenesis|glycolysis|positive regulation of glycolysis|sperm motility	cytosol	glyceraldehyde-3-phosphate dehydrogenase (NAD+) (phosphorylating) activity|NAD binding|protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)	11	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		NADH(DB00157)	CGTGGACCTGACCTGCCGCCT	0.612													G	36034625	A	G	36034625	3	3	364	1	0	0	0	0	1	0	0	0	6291	275	10	3	986	3	GAPDHS	19	36034625	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16805	36034625	23094358	13583	37085											
ATP4A	495	broad.mit.edu	37	chr19	36044680	36044680	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttgggttgcgtggacgcaGgtgcatgatgtcactctcgg	5	12	15	9	3	2	1	1	1	1	0	3	2	2	2	0	4	2	3	0	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36044680G>T	ENST00000262623.3	-	17	2561	c.2533C>A	c.(2533-2535)Ctg>Atg	p.L845M		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	845					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CGTGGACGCAGGTGCATGATG	0.607													T	36044680	G	T	36044680	3	4	364	1	0	0	0	0	1	0	0	0	1150	991	35	4	598	4	ATP4A	19	36044680	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10055	36044680	23084303	13584	37086											
ATP4A	495	broad.mit.edu	37	chr19	36053484	36053484	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgccccgtggtggccgCagtgcgttgggcccatcccg	2	7	18	14	4	0	0	0	0	0	0	1	0	1	0	5	5	2	2	5	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36053484C>T	ENST00000262623.3	-	4	301	c.273G>A	c.(271-273)ctG>ctA	p.L91L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	91					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GTGGTGGCCGCAGTGCGTTGG	0.706													T	36053484	C	T	36053484	2	4	364	1	0	0	0	0	0	0	0	1	1150	697	25	2		2	ATP4A	19	36053484	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8804	36053484	23075499	13585	37087											
HAUS5	23354	broad.mit.edu	37	chr19	36109559	36109559	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagcgcctccagggccTggtggaggaggtggagagac	8	4	18	11	1	0	1	0	0	0	1	1	6	1	4	4	6	1	0	4	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36109559T>G	ENST00000203166.5	+	12	999	c.974T>G	c.(973-975)cTg>cGg	p.L325R	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	325					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						CTCCAGGGCCTGGTGGAGGAG	0.662													G	36109559	T	G	36109559	3	3	364	1	0	0	0	0	1	0	0	0	7024	1580	55	5	1020	5	HAUS5	19	36109559	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56075	36109559	23019424	13586	37088											
HAUS5	23354	broad.mit.edu	37	chr19	36110348	36110348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagacccaggaacaggtccGcctgctcatcaagggaaact	12	5	12	12	1	2	1	2	0	0	1	3	4	3	3	3	4	3	1	3	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36110348G>A	ENST00000203166.5	+	14	1227	c.1202G>A	c.(1201-1203)cGc>cAc	p.R401H	HAUS5_ENST00000379045.2_3'UTR	NM_015302.1	NP_056117.1	O94927	HAUS5_HUMAN	HAUS augmin-like complex, subunit 5	401					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				NS(1)|breast(2)|cervix(3)|endometrium(1)|large_intestine(2)|lung(5)|skin(2)	16						GAACAGGTCCGCCTGCTCATC	0.632													A	36110348	G	A	36110348	3	1	364	1	0	0	0	0	1	0	0	0	7024	1087	38	1	1256	1	HAUS5	19	36110348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	789	36110348	23018635	13587	37089											
RBM42	79171	broad.mit.edu	37	chr19	36124698	36124698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggaggaggctagcgcggCtgtggccgtgggggcaggag	5	5	23	8	3	0	0	0	0	0	0	0	3	0	3	1	8	1	4	1	8	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124698C>T	ENST00000262633.4	+	7	899	c.794C>T	c.(793-795)gCt>gTt	p.A265V	RBM42_ENST00000589871.1_Missense_Mutation_p.A243V|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.A236V|RBM42_ENST00000360475.4_Missense_Mutation_p.A236V|RBM42_ENST00000592202.1_Missense_Mutation_p.A211V|RBM42_ENST00000588161.1_Missense_Mutation_p.A235V	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	265	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCTAGCGCGGCTGTGGCCGTG	0.721													T	36124698	C	T	36124698	3	4	364	1	0	0	0	0	1	0	0	0	13224	797	28	2	820	2	RBM42	19	36124698	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14350	36124698	23004285	13588	37090											
RBM42	79171	broad.mit.edu	37	chr19	36124733	36124733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaggtgccccagctggcCctgcagtcattgggcccagc	6	6	14	15	0	1	0	1	0	0	0	1	1	1	1	4	4	4	2	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36124733C>T	ENST00000262633.4	+	7	934	c.829C>T	c.(829-831)Cct>Tct	p.P277S	RBM42_ENST00000589871.1_Missense_Mutation_p.P255S|RBM42_ENST00000586618.1_Intron|RBM42_ENST00000589559.1_Missense_Mutation_p.P248S|RBM42_ENST00000360475.4_Missense_Mutation_p.P248S|RBM42_ENST00000592202.1_Missense_Mutation_p.P223S|RBM42_ENST00000588161.1_Missense_Mutation_p.P247S	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	277	Necessary for interaction with HNRNPK (By similarity).|Pro-rich.					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			CCCAGCTGGCCCTGCAGTCAT	0.731													T	36124733	C	T	36124733	3	4	364	1	0	0	0	0	1	0	0	0	13224	623	22	2	855	2	RBM42	19	36124733	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35	36124733	23004250	13589	37091											
RBM42	79171	broad.mit.edu	37	chr19	36128403	36128403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtggaaggaccggaatCtggacgtggtccgcaagaag	11	6	16	8	3	1	1	0	0	1	1	2	5	2	5	2	5	0	2	2	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36128403C>A	ENST00000262633.4	+	10	1495	c.1390C>A	c.(1390-1392)Ctg>Atg	p.L464M	RBM42_ENST00000589871.1_Missense_Mutation_p.L442M|RBM42_ENST00000586618.1_Missense_Mutation_p.L168M|RBM42_ENST00000589559.1_Missense_Mutation_p.L370M|RBM42_ENST00000360475.4_Missense_Mutation_p.L435M|RBM42_ENST00000592202.1_Missense_Mutation_p.L410M|RBM42_ENST00000588161.1_Missense_Mutation_p.L434M	NM_024321.3	NP_077297.2	Q9BTD8	RBM42_HUMAN	RNA binding motif protein 42	464	Necessary for interaction with HNRNPK (By similarity).					cytoplasm|nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|large_intestine(7)|lung(9)|prostate(1)	21	all_lung(56;1.58e-07)|Lung NSC(56;2.43e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGACCGGAATCTGGACGTGGT	0.617													A	36128403	C	A	36128403	3	1	364	1	0	0	0	0	1	0	0	0	13224	912	32	4	1428	4	RBM42	19	36128403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3670	36128403	23000580	13590	37092											
C19orf55	148137	broad.mit.edu	37	chr19	36259311	36259311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggcctttctccagggaagCggatgcccgattatcgttcc	6	10	11	14	4	1	0	0	0	1	0	4	3	2	2	5	3	2	1	5	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36259311C>T	ENST00000396908.4	+	12	1377	c.1304C>T	c.(1303-1305)gCg>gTg	p.A435V	C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCAGGGAAGCGGATGCCCGA	0.627													T	36259311	C	T	36259311	3	4	364	1	0	0	0	0	1	0	0	0	1956	783	27	1		1	C19orf55	19	36259311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130908	36259311	22869672	13591	37093											
ARHGAP33	115703	broad.mit.edu	37	chr19	36272095	36272095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagttcattgaggcccaCggggtggtggatgggatcta	7	10	16	8	2	2	1	1	1	1	0	3	4	3	3	2	6	0	1	2	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36272095C>T	ENST00000007510.4	+	12	1170	c.1026C>T	c.(1024-1026)caC>caT	p.H342H	ARHGAP33_ENST00000314737.5_Silent_p.H342H|ARHGAP33_ENST00000378944.5_Silent_p.H206H			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	342	Rho-GAP.				cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding	p.H342H(1)		endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						TTGAGGCCCACGGGGTGGTGG	0.647													T	36272095	C	T	36272095	2	4	364	1	0	0	0	0	0	0	0	1	885	535	19	1		1	ARHGAP33	19	36272095	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12784	36272095	22856888	13592	37094											
ARHGAP33	115703	broad.mit.edu	37	chr19	36276168	36276168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttctttgcactgggccgggGccccagtgtccctcgaaaga	6	9	13	13	2	1	1	0	0	1	1	3	2	2	1	4	3	1	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36276168G>A	ENST00000007510.4	+	18	1943	c.1799G>A	c.(1798-1800)gGc>gAc	p.G600D	ARHGAP33_ENST00000314737.5_Missense_Mutation_p.G600D|ARHGAP33_ENST00000378944.5_Missense_Mutation_p.G464D			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	600					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGGGCCGGGGCCCCAGTGTC	0.677													A	36276168	G	A	36276168	3	1	364	1	0	0	0	0	1	0	0	0	885	1203	42	2	1869	2	ARHGAP33	19	36276168	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4073	36276168	22852815	13593	37095											
KIRREL2	84063	broad.mit.edu	37	chr19	36357131	36357131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgaagcccctggaggaGgtctcttcctgccaccaccc	6	8	11	16	1	1	0	0	0	1	0	3	3	2	2	6	4	2	0	6	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36357131G>T	ENST00000360202.5	+	15	2062	c.1864G>T	c.(1864-1866)Ggt>Tgt	p.G622C	KIRREL2_ENST00000347900.6_Intron|KIRREL2_ENST00000262625.7_Intron|KIRREL2_ENST00000592409.1_Missense_Mutation_p.G587C|NPHS1_ENST00000591817.1_Intron	NM_032123.5|NM_199180.2	NP_115499.4|NP_954649.2	Q6UWL6	KIRR2_HUMAN	kin of IRRE like 2 (Drosophila)	622					cell adhesion	integral to membrane|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(6)|large_intestine(6)|liver(2)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	48	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCCTGGAGGAGGTCTCTTCCT	0.602													T	36357131	G	T	36357131	3	4	364	1	0	0	0	0	1	0	0	0	8383	1000	35	4	1922	4	KIRREL2	19	36357131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80963	36357131	22771852	13594	37096											
APLP1	333	broad.mit.edu	37	chr19	36362885	36362885	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccgcaggctgaagaggAagaggaaacggtcccacccc	11	3	13	14	2	0	3	0	1	0	2	2	5	2	5	5	4	1	2	5	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36362885A>G	ENST00000221891.4	+	6	989	c.797A>G	c.(796-798)gAa>gGa	p.E266G	APLP1_ENST00000586861.1_Missense_Mutation_p.E260G|APLP1_ENST00000537454.2_Missense_Mutation_p.E227G	NM_001024807.1|NM_005166.3	NP_001019978.1|NP_005157.1	P51693	APLP1_HUMAN	amyloid beta (A4) precursor-like protein 1	266	Poly-Glu.				apoptosis|cell adhesion|cellular response to norepinephrine stimulus|endocytosis|negative regulation of cAMP biosynthetic process|nervous system development|organ morphogenesis	basement membrane|integral to membrane|perinuclear region of cytoplasm|plasma membrane	alpha-2A adrenergic receptor binding|alpha-2B adrenergic receptor binding|alpha-2C adrenergic receptor binding|heparin binding|identical protein binding|metal ion binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	33	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			GCTGAAGAGGAAGAGGAAACG	0.597													G	36362885	A	G	36362885	3	3	364	1	0	0	0	0	1	0	0	0	781	246	9	3	819	3	APLP1	19	36362885	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5754	36362885	22766098	13595	37097											
ALKBH6	84964	broad.mit.edu	37	chr19	36501867	36501867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcctccaaagaggctgaGgtttgacactttgtccacgt	9	10	12	10	1	0	3	0	2	0	1	2	4	2	3	3	3	0	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36501867G>T	ENST00000486389.1	-	4	944	c.196C>A	c.(196-198)Ctc>Atc	p.L66I	ALKBH6_ENST00000485128.1_Missense_Mutation_p.L89I|AC002116.8_ENST00000473572.2_RNA|ALKBH6_ENST00000378875.3_Missense_Mutation_p.L117I|ALKBH6_ENST00000495116.2_Intron|ALKBH6_ENST00000252984.7_Missense_Mutation_p.L89I			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)	89						cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AAGAGGCTGAGGTTTGACACT	0.622													T	36501867	G	T	36501867	3	4	364	1	0	0	0	0	1	0	0	0	531	1000	35	4	463	4	ALKBH6	19	36501867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138982	36501867	22627116	13596	37098											
CLIP3	25999	broad.mit.edu	37	chr19	36508317	36508317	+	Missense_Mutation	SNP	A	A	G																															gatgcacttttttggctccaAcgctgtccccgggggaatca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508317A>G	ENST00000360535.4	-	12	1714	c.1487T>C	c.(1486-1488)gTt>gCt	p.V496A	CLIP3_ENST00000593074.1_Missense_Mutation_p.V496A|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	496	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTGGCTCCAACGCTGTCCCC	0.562													G	36508317	A	G	36508317	3	3	364	1	0	0	0	0	1	0	0	0	3565	43	2	3	168	3	CLIP3	19	36508317	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6450	36508317	22620666	13597	37099	112	2									
CLIP3	25999	broad.mit.edu	37	chr19	36508319	36508319	+	Silent	SNP	G	G	A																															tgcacttttttggctccaacGctgtccccgggggaatcagt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36508319G>A	ENST00000360535.4	-	12	1712	c.1485C>T	c.(1483-1485)agC>agT	p.S495S	CLIP3_ENST00000593074.1_Silent_p.S495S|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	495	GoLD.				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGCTCCAACGCTGTCCCCGG	0.562													A	36508319	G	A	36508319	2	1	364	1	0	0	0	0	0	0	0	1	3565	1078	38	1		1	CLIP3	19	36508319	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2	36508319	22620664	13598	37100	112	2									
CLIP3	25999	broad.mit.edu	37	chr19	36509857	36509857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtccatccggggggtccGgggtgtggaggtgacagagg	7	6	21	7	2	0	2	0	1	0	1	3	4	3	3	3	8	0	0	3	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36509857G>A	ENST00000360535.4	-	9	1353	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	CLIP3_ENST00000593074.1_Missense_Mutation_p.R376W|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	376					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGGGGGGTCCGGGGTGTGGAG	0.617													A	36509857	G	A	36509857	3	1	364	1	0	0	0	0	1	0	0	0	3565	1115	39	1	541	1	CLIP3	19	36509857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1538	36509857	22619126	13599	37101											
CLIP3	25999	broad.mit.edu	37	chr19	36515309	36515309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcccctgaccttctggccatCcagcagcacgcggtctccca	6	7	9	19	2	2	1	0	1	2	0	4	1	3	1	6	2	2	2	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36515309C>T	ENST00000360535.4	-	7	1134	c.907G>A	c.(907-909)Gat>Aat	p.D303N	CLIP3_ENST00000593074.1_Missense_Mutation_p.D303N|AC002116.7_ENST00000586962.1_RNA	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	303					chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTCTGGCCATCCAGCAGCACG	0.622													T	36515309	C	T	36515309	3	4	364	1	0	0	0	0	1	0	0	0	3565	855	30	2	768	2	CLIP3	19	36515309	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5452	36515309	22613674	13600	37102											
WDR62	284403	broad.mit.edu	37	chr19	36594735	36594735	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctagccctgtggaagagagCgccctgaggctccacggctc	7	6	13	15	2	0	2	0	1	0	1	2	4	1	3	4	3	2	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36594735C>T	ENST00000401500.2	+	30	4040	c.4005C>T	c.(4003-4005)agC>agT	p.S1335S	WDR62_ENST00000270301.7_Silent_p.S1330S	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	1330					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGGAAGAGAGCGCCCTGAGGC	0.672													T	36594735	C	T	36594735	2	4	364	1	0	0	0	0	0	0	0	1	17415	767	27	1		1	WDR62	19	36594735	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79426	36594735	22534248	13601	37103											
CAPNS1	826	broad.mit.edu	37	chr19	36637211	36637211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtcaggctggacgccatgTtccgtgagtgacaacccagc	8	8	13	12	2	1	2	1	2	0	0	2	3	2	3	3	3	2	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36637211T>C	ENST00000246533.3	+	9	1316	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	CAPNS1_ENST00000587718.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000590874.1_Missense_Mutation_p.F210L|CAPNS1_ENST00000589146.1_Missense_Mutation_p.F66L|AD001527.7_ENST00000604228.1_RNA|CAPNS1_ENST00000588815.1_Missense_Mutation_p.F240L|CAPNS1_ENST00000588780.1_Missense_Mutation_p.F250L	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	240	EF-hand 5.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			GGACGCCATGTTCCGTGAGTG	0.507													C	36637211	T	C	36637211	3	2	364	1	0	0	0	0	1	0	0	0	2659	1725	60	3	748	3	CAPNS1	19	36637211	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	42476	36637211	22491772	13602	37104											
COX7A1	1346	broad.mit.edu	37	chr19	36642626	36642626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaaagcggttccgggcggtgGagctgaaggagcggatcagc	9	5	19	8	4	1	1	1	1	0	0	2	5	2	4	1	6	4	2	1	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36642626G>A	ENST00000292907.3	-	2	508	c.47C>T	c.(46-48)tCc>tTc	p.S16F	COX7A1_ENST00000437291.2_5'UTR	NM_001864.2	NP_001855.1	P24310	CX7A1_HUMAN	cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)	16					generation of precursor metabolites and energy	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity|electron carrier activity			endometrium(2)|large_intestine(1)	3	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CCGGGCGGTGGAGCTGAAGGA	0.692													A	36642626	G	A	36642626	3	1	364	1	0	0	0	0	1	0	0	0	3810	1174	41	2	204	2	COX7A1	19	36642626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5415	36642626	22486357	13603	37105											
ZNF565	147929	broad.mit.edu	37	chr19	36673579	36673579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagtcagttgtgaaacaCgaataaaggccttcccacat	14	9	9	9	1	1	2	1	2	0	0	2	4	2	2	2	1	1	1	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36673579C>T	ENST00000355114.5	-	5	2135	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H	ZNF565_ENST00000392173.2_Missense_Mutation_p.R430H|ZNF565_ENST00000304116.5_Missense_Mutation_p.R430H			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	430					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TTGTGAAACACGAATAAAGGC	0.428													T	36673579	C	T	36673579	3	4	364	1	0	0	0	0	1	0	0	0	18097	536	19	1	214	1	ZNF565	19	36673579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30953	36673579	22455404	13604	37106											
ZFP14	57677	broad.mit.edu	37	chr19	36831672	36831672	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgatgaacagtaagttgttgGcatattctaaaagcctttcc	12	14	8	7	0	1	2	0	2	1	0	2	2	2	2	2	1	2	4	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36831672G>A	ENST00000270001.7	-	5	1171	c.1056C>T	c.(1054-1056)tgC>tgT	p.C352C		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					TAAGTTGTTGGCATATTCTAA	0.393													A	36831672	G	A	36831672	2	1	364	1	0	0	0	0	0	0	0	1	17740	1195	42	2		2	ZFP14	19	36831672	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	158093	36831672	22297311	13605	37107											
ZFP14	57677	broad.mit.edu	37	chr19	36832369	36832369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcattcccaatcattcCtaaaaatggaaccctgaagg	13	12	6	10	0	1	1	1	1	0	0	3	2	3	2	3	2	2	1	3	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36832369C>T	ENST00000270001.7	-	5	474	c.359G>A	c.(358-360)aGg>aAg	p.R120K		NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	120					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCAATCATTCCTAAAAATGGA	0.343													T	36832369	C	T	36832369	3	4	364	1	0	0	0	0	1	0	0	0	17740	681	24	2	1246	2	ZFP14	19	36832369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	697	36832369	22296614	13606	37108											
ZFP82	284406	broad.mit.edu	37	chr19	36884446	36884446	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagagtaagttgtcctcGtaccctaaaagccttcccac	11	10	7	13	1	0	1	0	0	0	1	3	1	2	1	4	0	3	4	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36884446G>A	ENST00000392161.3	-	5	1038	c.796C>T	c.(796-798)Cga>Tga	p.R266*	ZFP82_ENST00000392171.1_Nonsense_Mutation_p.R266*	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTTGTCCTCGTACCCTAAAA	0.433													A	36884446	G	A	36884446	4	1	364	1	0	0	0	0	0	1	0	0	17754	1153	40	1	806	1	ZFP82	19	36884446	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52077	36884446	22244537	13607	37109											
ZNF566	84924	broad.mit.edu	37	chr19	36940060	36940060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccccagtatgaattCtctgatgtctagtaaggtct	8	16	8	9	0	4	2	0	2	4	0	6	2	4	2	2	1	0	3	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940060C>A	ENST00000454319.1	-	5	1213	c.1079G>T	c.(1078-1080)aGa>aTa	p.R360I	ZNF566_ENST00000493391.1_Missense_Mutation_p.R255I|ZNF566_ENST00000424129.2_Missense_Mutation_p.R359I|ZNF566_ENST00000434377.2_Missense_Mutation_p.R359I|ZNF566_ENST00000392170.2_Missense_Mutation_p.R360I	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					AGTATGAATTCTCTGATGTCT	0.378													A	36940060	C	A	36940060	3	1	364	1	0	0	0	0	1	0	0	0	18098	913	32	4	184	4	ZNF566	19	36940060	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	55614	36940060	22188923	13608	37110											
ZNF566	84924	broad.mit.edu	37	chr19	36940119	36940119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcacattccttacattcGtaaggtttctcacctgtatg	8	18	5	10	1	2	0	2	0	1	0	5	0	3	0	2	1	1	3	2	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:36940119G>A	ENST00000454319.1	-	5	1154	c.1020C>T	c.(1018-1020)taC>taT	p.Y340Y	ZNF566_ENST00000493391.1_Silent_p.Y235Y|ZNF566_ENST00000424129.2_Silent_p.Y339Y|ZNF566_ENST00000434377.2_Silent_p.Y339Y|ZNF566_ENST00000392170.2_Silent_p.Y340Y	NM_001145343.1|NM_001145344.1|NM_001145345.1	NP_001138815.1|NP_001138816.1|NP_001138817.1	Q969W8	ZN566_HUMAN	zinc finger protein 566	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(12)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24	Esophageal squamous(110;0.162)					CCTTACATTCGTAAGGTTTCT	0.398													A	36940119	G	A	36940119	2	1	364	1	0	0	0	0	0	0	0	1	18098	1140	40	1		1	ZNF566	19	36940119	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59	36940119	22188864	13609	37111											
ZNF529	57711	broad.mit.edu	37	chr19	37038281	37038281	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatgctttgcattcataGggtttcttaccagtatgaat	10	15	7	9	0	2	1	1	1	1	0	2	1	2	1	2	1	3	4	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038281G>T	ENST00000334116.7	-	6	1474	c.864C>A	c.(862-864)ccC>ccA	p.P288P	ZNF529_ENST00000591340.1_Silent_p.P393P	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TGCATTCATAGGGTTTCTTAC	0.388													T	37038281	G	T	37038281	2	4	364	1	0	0	0	0	0	0	0	1	18071	987	35	4		4	ZNF529	19	37038281	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98162	37038281	22090702	13610	37112											
ZNF529	57711	broad.mit.edu	37	chr19	37038361	37038361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcccacattccttacatgCataaggtttctcaccagtgt	9	14	5	13	0	1	0	1	0	1	0	4	0	3	0	3	1	2	2	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038361C>T	ENST00000334116.7	-	6	1394	c.784G>A	c.(784-786)Gca>Aca	p.A262T	ZNF529_ENST00000591340.1_Missense_Mutation_p.A367T	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					TCCTTACATGCATAAGGTTTC	0.403													T	37038361	C	T	37038361	3	4	364	1	0	0	0	0	1	0	0	0	18071	710	25	2	596	2	ZNF529	19	37038361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80	37038361	22090622	13611	37113											
ZNF529	57711	broad.mit.edu	37	chr19	37038801	37038801	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtttcacaccagtatgaAtattcagttgtaacatactg	14	13	7	7	0	2	1	2	1	0	0	2	1	2	1	1	1	2	4	1	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37038801A>C	ENST00000334116.7	-	6	954	c.344T>G	c.(343-345)aTt>aGt	p.I115S	ZNF529_ENST00000591340.1_Missense_Mutation_p.I220S	NM_001145650.1	NP_001139122.1	Q6P280	ZN529_HUMAN	zinc finger protein 529	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)	1	Esophageal squamous(110;0.198)					ACCAGTATGAATATTCAGTTG	0.294													C	37038801	A	C	37038801	3	2	364	1	0	0	0	0	1	0	0	0	18071	101	4	5	1036	5	ZNF529	19	37038801	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	440	37038801	22090182	13612	37114											
ZNF567	163081	broad.mit.edu	37	chr19	37210117	37210117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagacttagtgagtataatgGatatgggaaatcactcctga	14	11	11	5	0	1	3	1	2	0	1	2	6	2	5	1	2	0	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37210117G>A	ENST00000585696.1	+	3	1628	c.398G>A	c.(397-399)gGa>gAa	p.G133E	ZNF567_ENST00000588311.1_Missense_Mutation_p.G133E|ZNF567_ENST00000392163.2_Missense_Mutation_p.G133E|ZNF567_ENST00000536254.2_Missense_Mutation_p.G164E|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Missense_Mutation_p.G133E			Q8N184	ZN567_HUMAN	zinc finger protein 567	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGTATAATGGATATGGGAAA	0.353													A	37210117	G	A	37210117	3	1	364	1	0	0	0	0	1	0	0	0	18099	1174	41	2	408	2	ZNF567	19	37210117	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	171316	37210117	21918866	13613	37115											
ZNF567	163081	broad.mit.edu	37	chr19	37211222	37211222	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatacaggggagaaaccCtatgtttgtaatgaatgtgg	13	12	11	5	0	1	2	1	1	0	1	1	3	1	2	1	3	2	2	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37211222C>A	ENST00000585696.1	+	3	2733	c.1503C>A	c.(1501-1503)ccC>ccA	p.P501P	ZNF567_ENST00000588311.1_Silent_p.P501P|ZNF567_ENST00000392163.2_Silent_p.P501P|ZNF567_ENST00000536254.2_Silent_p.P532P|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000360729.4_Silent_p.P501P			Q8N184	ZN567_HUMAN	zinc finger protein 567	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GGGAGAAACCCTATGTTTGTA	0.393													A	37211222	C	A	37211222	2	1	364	1	0	0	0	0	0	0	0	1	18099	668	24	4		4	ZNF567	19	37211222	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1105	37211222	21917761	13614	37116											
ZNF345	25850	broad.mit.edu	37	chr19	37368419	37368419	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcatactggtgagaaaccTtatgaatgcaaagcatgtgg	14	11	10	6	0	1	2	1	2	0	1	1	3	1	2	1	2	4	2	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37368419T>G	ENST00000529555.1	+	2	1475	c.687T>G	c.(685-687)ccT>ccG	p.P229P	ZNF345_ENST00000432005.2_Intron|ZNF345_ENST00000420450.1_Silent_p.P229P|ZNF345_ENST00000589046.1_Silent_p.P229P|ZNF345_ENST00000526123.1_Intron			Q14585	ZN345_HUMAN	zinc finger protein 345	229					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|ovary(2)|prostate(1)	24	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGAGAAACCTTATGAATGCA	0.418													G	37368419	T	G	37368419	2	3	364	1	0	0	0	0	0	0	0	1	17960	1596	56	5		5	ZNF345	19	37368419	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	157197	37368419	21760564	13615	37117											
ZNF829	374899	broad.mit.edu	37	chr19	37383201	37383201	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgtgagttttgattaaaGgtctttccacatatcttaca	12	17	6	6	0	2	2	0	2	2	0	3	2	3	2	1	1	1	1	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37383201G>T	ENST00000520965.1	-	6	801	c.735C>A	c.(733-735)acC>acA	p.T245T	ZNF345_ENST00000432005.2_Intron|ZNF829_ENST00000391711.3_Silent_p.T164T|ZNF345_ENST00000526123.1_Intron	NM_001171979.1	NP_001165450.1	Q3KNS6	ZN829_HUMAN	zinc finger protein 829	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(11)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTGATTAAAGGTCTTTCCAC	0.363													T	37383201	G	T	37383201	2	4	364	1	0	0	0	0	0	0	0	1	18281	987	35	4		4	ZNF829	19	37383201	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14782	37383201	21745782	13616	37118											
ZNF585A	199704	broad.mit.edu	37	chr19	37643466	37643466	+	Frame_Shift_Del	DEL	T	T	-																															tgcgacttggaggtaaacaaTttcccacagtgaccacattt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643466delT	ENST00000356958.4	-	5	1593	c.1335delA	c.(1333-1335)aaafs	p.K445fs	ZNF585A_ENST00000392157.2_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000355533.2_Intron|ZNF585A_ENST00000292841.5_Frame_Shift_Del_p.K390fs|ZNF585A_ENST00000588723.1_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGGTAAACAATTTCCCACAGT	0.423													-	37643466	T	-	37643466	7	5	364	1	0	1	0	1	0	0	0	0	18118	1490	52	0	978	0	ZNF585A	19	37643466	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	260265	37643466	21485517	13617	37119											
ZNF585A	199704	broad.mit.edu	37	chr19	37643484	37643484	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttcccacagtgaccacaTttatgaggtttctctccagt	10	14	6	11	0	1	2	0	2	1	0	4	2	3	2	3	1	0	1	3	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643484T>G	ENST00000356958.4	-	5	1575	c.1317A>C	c.(1315-1317)aaA>aaC	p.K439N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K384N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K384N|ZNF585A_ENST00000355533.2_Intron			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTGACCACATTTATGAGGTT	0.393													G	37643484	T	G	37643484	3	3	364	1	0	0	0	0	1	0	0	0	18118	1490	52	5	996	5	ZNF585A	19	37643484	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	18	37643484	21485499	13618	37120											
ZNF585A	199704	broad.mit.edu	37	chr19	37643829	37643829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcggtacatatatagggCttcactcttgtgtgaacacg	10	14	9	8	2	2	1	1	1	1	0	3	1	2	1	0	2	2	2	0	2	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37643829C>A	ENST00000356958.4	-	5	1230	c.972G>T	c.(970-972)aaG>aaT	p.K324N	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Missense_Mutation_p.K269N|ZNF585A_ENST00000292841.5_Missense_Mutation_p.K269N|ZNF585A_ENST00000355533.2_Missense_Mutation_p.K269N			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	324					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATATATAGGGCTTCACTCTTG	0.388													A	37643829	C	A	37643829	3	1	364	1	0	0	0	0	1	0	0	0	18118	796	28	4	1341	4	ZNF585A	19	37643829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	345	37643829	21485154	13619	37121											
ZNF585A	199704	broad.mit.edu	37	chr19	37644027	37644027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtatggattttctgatgcatCttgagtgtggacttttgtgt	6	19	12	4	0	2	2	0	2	2	0	2	4	2	4	0	2	1	2	0	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37644027C>T	ENST00000356958.4	-	5	1032	c.774G>A	c.(772-774)aaG>aaA	p.K258K	ZNF585A_ENST00000588723.1_Intron|ZNF585A_ENST00000392157.2_Silent_p.K203K|ZNF585A_ENST00000292841.5_Silent_p.K203K|ZNF585A_ENST00000355533.2_Silent_p.K203K			Q6P3V2	Z585A_HUMAN	zinc finger protein 585A	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(2)|large_intestine(17)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTGATGCATCTTGAGTGTGG	0.428													T	37644027	C	T	37644027	2	4	364	1	0	0	0	0	0	0	0	1	18118	912	32	2		2	ZNF585A	19	37644027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198	37644027	21484956	13620	37122											
ZNF585B	92285	broad.mit.edu	37	chr19	37678054	37678055	+	Frame_Shift_Ins	INS	-	-	T																															aattcagcacactcataggaINStttttccccagaataaattt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37678054_37678055insT	ENST00000532828.2	-	5	635_636	c.384_385insA	c.(382-387)aaatccfs	p.S129fs	ZNF585B_ENST00000527838.1_Frame_Shift_Ins_p.S129fs|ZNF585B_ENST00000531805.1_Frame_Shift_Ins_p.S74fs|CTC-454I21.3_ENST00000585860.2_Intron	NM_152279.3	NP_689492.3	Q52M93	Z585B_HUMAN	zinc finger protein 585B	129					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTCATAGGATTTTTCCCCAG	0.371													T	37678055	-	T	37678054	7	5	364	1	0	1	1	0	0	0	0	0	18119	333	12	0	1928	0	ZNF585B	19	37678054	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	34027	37678054	21450929	13621	37123											
ZNF383	163087	broad.mit.edu	37	chr19	37733454	37733454	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tatgccagagggagataatgGgacttacaaagcatggcctt	13	9	12	7	0	0	2	0	0	0	2	0	4	0	3	2	3	3	1	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37733454G>T	ENST00000589413.1	+	8	899	c.316G>T	c.(316-318)Gga>Tga	p.G106*	ZNF383_ENST00000352998.3_Nonsense_Mutation_p.G106*|ZNF383_ENST00000590503.1_Nonsense_Mutation_p.G106*			Q8NA42	ZN383_HUMAN	zinc finger protein 383	106					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GGAGATAATGGGACTTACAAA	0.363													T	37733454	G	T	37733454	4	4	364	1	0	0	0	0	0	1	0	0	17975	1233	43	4	330	4	ZNF383	19	37733454	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55400	37733454	21395529	13622	37124											
ZNF383	163087	broad.mit.edu	37	chr19	37734511	37734511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtaaggaatgtgggaaggCttttagtagtggctcggatc	9	12	15	5	1	0	0	0	0	0	0	2	3	0	3	0	5	0	4	0	5	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37734511C>T	ENST00000589413.1	+	8	1956	c.1373C>T	c.(1372-1374)gCt>gTt	p.A458V	ZNF383_ENST00000352998.3_Missense_Mutation_p.A458V|ZNF383_ENST00000590503.1_Missense_Mutation_p.A458V			Q8NA42	ZN383_HUMAN	zinc finger protein 383	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)	15			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGTGGGAAGGCTTTTAGTAGT	0.368													T	37734511	C	T	37734511	3	4	364	1	0	0	0	0	1	0	0	0	17975	797	28	2	1387	2	ZNF383	19	37734511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1057	37734511	21394472	13623	37125											
HKR1	284459	broad.mit.edu	37	chr19	37853998	37853998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatcagacacttaaggaCacacacaggagagaagcctt	15	6	8	12	0	2	2	2	0	0	2	2	5	2	4	2	2	1	0	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37853998C>T	ENST00000591471.1	+	9	2123	c.482C>T	c.(481-483)aCa>aTa	p.T161I	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Missense_Mutation_p.T415I|HKR1_ENST00000544914.1_Missense_Mutation_p.T161I|HKR1_ENST00000324411.4_Missense_Mutation_p.T434I|HKR1_ENST00000589392.1_Missense_Mutation_p.T416I|HKR1_ENST00000541583.2_Missense_Mutation_p.T373I			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	434					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CACTTAAGGACACACACAGGA	0.473													T	37853998	C	T	37853998	3	4	364	1	0	0	0	0	1	0	0	0	7249	478	17	2	1315	2	HKR1	19	37853998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119487	37853998	21274985	13624	37126											
HKR1	284459	broad.mit.edu	37	chr19	37854500	37854500	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaacaccagagagcacaCgcaggggggaagcctcatgt	14	5	12	10	1	1	1	1	0	0	1	1	3	1	2	2	3	3	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37854500C>T	ENST00000591471.1	+	9	2625	c.984C>T	c.(982-984)caC>caT	p.H328H	HKR1_ENST00000591134.1_Intron|HKR1_ENST00000392153.3_Silent_p.H582H|HKR1_ENST00000544914.1_Silent_p.H328H|HKR1_ENST00000324411.4_Silent_p.H601H|HKR1_ENST00000589392.1_Silent_p.H583H|HKR1_ENST00000541583.2_Silent_p.H540H			P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGAGAGCACACGCAGGGGGGA	0.532													T	37854500	C	T	37854500	2	4	364	1	0	0	0	0	0	0	0	1	7249	535	19	1		1	HKR1	19	37854500	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	502	37854500	21274483	13625	37127											
ZNF569	148266	broad.mit.edu	37	chr19	37904943	37904943	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctctccagtatgaattCtcagatgtctgatgaggtcc	8	14	9	10	0	3	4	1	3	3	1	7	4	5	4	2	1	0	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37904943C>A	ENST00000316950.6	-	6	1174	c.617G>T	c.(616-618)aGa>aTa	p.R206I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R206I|ZNF569_ENST00000392150.2_Missense_Mutation_p.R47I	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AGTATGAATTCTCAGATGTCT	0.368													A	37904943	C	A	37904943	3	1	364	1	0	0	0	0	1	0	0	0	18101	913	32	4	1447	4	ZNF569	19	37904943	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50443	37904943	21224040	13626	37128											
ZNF569	148266	broad.mit.edu	37	chr19	37905279	37905279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacttgtctcaaaagtCtgtcctggtttttctgatgc	7	17	7	10	0	4	1	2	1	3	0	6	1	5	1	1	1	2	1	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:37905279C>A	ENST00000316950.6	-	6	838	c.281G>T	c.(280-282)aGa>aTa	p.R94I	ZNF569_ENST00000392149.2_Missense_Mutation_p.R94I|ZNF569_ENST00000592490.1_Missense_Mutation_p.D20Y|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCAAAAGTCTGTCCTGGTT	0.313													A	37905279	C	A	37905279	3	1	364	1	0	0	0	0	1	0	0	0	18101	913	32	4	1783	4	ZNF569	19	37905279	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	336	37905279	21223704	13627	37129											
ZNF571	51276	broad.mit.edu	37	chr19	38055937	38055937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcaccatgaattttctcatGttgagtaagatatgcaacac	13	13	6	9	0	2	3	2	2	1	1	3	3	2	3	1	0	2	3	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38055937G>A	ENST00000328550.2	-	4	1492	c.1393C>T	c.(1393-1395)Cat>Tat	p.H465Y	ZNF571-AS1_ENST00000589802.1_RNA|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571_ENST00000451802.2_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571_ENST00000358744.3_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571_ENST00000593133.1_Missense_Mutation_p.H465Y|ZNF571-AS1_ENST00000589750.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF540_ENST00000592533.1_Intron|ZNF571-AS1_ENST00000585578.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ATTTTCTCATGTTGAGTAAGA	0.363													A	38055937	G	A	38055937	3	1	364	1	0	0	0	0	1	0	0	0	18104	1377	48	2	440	2	ZNF571	19	38055937	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	150658	38055937	21073046	13628	37130											
ZNF540	163255	broad.mit.edu	37	chr19	38090600	38090600	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcctggacactacccagaGgaaattgtacagagatgtga	13	8	12	8	0	0	3	0	1	0	2	0	6	0	5	2	2	3	1	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38090600G>T	ENST00000592533.1	+	3	415	c.83G>T	c.(82-84)aGg>aTg	p.R28M	ZNF540_ENST00000587220.1_3'UTR|ZNF540_ENST00000586792.1_Intron|ZNF540_ENST00000316433.4_Missense_Mutation_p.R28M|ZNF540_ENST00000343599.5_Missense_Mutation_p.R28M|ZNF540_ENST00000589117.1_Missense_Mutation_p.R28M	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			ACTACCCAGAGGAAATTGTAC	0.413													T	38090600	G	T	38090600	3	4	364	1	0	0	0	0	1	0	0	0	18076	1000	35	4	89	4	ZNF540	19	38090600	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34663	38090600	21038383	13629	37131											
ZNF540	163255	broad.mit.edu	37	chr19	38103579	38103579	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatactggtgtgaagccCtacgaatgtaaggaatgtgg	11	11	12	7	1	1	1	1	1	0	0	1	3	1	2	1	3	3	1	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38103579C>A	ENST00000592533.1	+	5	1730	c.1398C>A	c.(1396-1398)ccC>ccA	p.P466P	ZNF540_ENST00000316433.4_Silent_p.P466P|ZNF540_ENST00000343599.5_Silent_p.P466P|ZNF540_ENST00000589117.1_Silent_p.P434P	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GTGTGAAGCCCTACGAATGTA	0.403													A	38103579	C	A	38103579	2	1	364	1	0	0	0	0	0	0	0	1	18076	668	24	4		4	ZNF540	19	38103579	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12979	38103579	21025404	13630	37132											
ZFP30	22835	broad.mit.edu	37	chr19	38127090	38127090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acacacctcatgaggactttCttgttcttcaagtccacagc	10	12	6	13	0	4	1	2	1	2	0	5	2	5	2	2	1	1	1	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38127090C>T	ENST00000351218.2	-	6	909	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	ZFP30_ENST00000392144.1_Missense_Mutation_p.E118K|ZFP30_ENST00000514101.2_Missense_Mutation_p.E118K|ZFP30_ENST00000589018.1_Intron	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TGAGGACTTTCTTGTTCTTCA	0.358													T	38127090	C	T	38127090	3	4	364	1	0	0	0	0	1	0	0	0	17745	922	32	2	1211	2	ZFP30	19	38127090	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23511	38127090	21001893	13631	37133											
ZFP30	22835	broad.mit.edu	37	chr19	38135552	38135552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctctaatatcacatctCtgtacaaattcctctgatat	12	16	3	10	0	4	1	1	1	3	0	7	1	5	1	1	0	1	2	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38135552C>A	ENST00000351218.2	-	4	652	c.95G>T	c.(94-96)aGa>aTa	p.R32I	ZFP30_ENST00000392144.1_Missense_Mutation_p.R32I|ZFP30_ENST00000514101.2_Missense_Mutation_p.R32I|ZFP30_ENST00000589018.1_Missense_Mutation_p.R32I	NM_014898.2	NP_055713.1	Q9Y2G7	ZFP30_HUMAN	ZFP30 zinc finger protein	32	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	21			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TATCACATCTCTGTACAAATT	0.403													A	38135552	C	A	38135552	3	1	364	1	0	0	0	0	1	0	0	0	17745	913	32	4	1476	4	ZFP30	19	38135552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8462	38135552	20993431	13632	37134											
ZNF607	84775	broad.mit.edu	37	chr19	38190099	38190099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcccttcccgcattccttGcattcatagggtttttctcc	6	15	6	14	1	2	0	1	0	1	0	5	0	4	0	4	1	2	3	4	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38190099G>A	ENST00000355202.4	-	5	1528	c.933C>T	c.(931-933)tgC>tgT	p.C311C	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Silent_p.C310C	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	311					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			CGCATTCCTTGCATTCATAGG	0.413													A	38190099	G	A	38190099	2	1	364	1	0	0	0	0	0	0	0	1	18134	1311	46	2		2	ZNF607	19	38190099	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54547	38190099	20938884	13633	37135											
ZNF573	126231	broad.mit.edu	37	chr19	38229677	38229677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcatgaatgctctgatGtgcagtaaggtgtgaactac	12	11	11	7	0	2	3	1	3	1	0	2	3	2	3	0	1	5	4	0	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38229677G>A	ENST00000339503.4	-	8	2041	c.1540C>T	c.(1540-1542)Cat>Tat	p.H514Y	ZNF573_ENST00000590414.2_Missense_Mutation_p.H572Y|ZNF573_ENST00000536220.1_Missense_Mutation_p.H484Y|ZNF573_ENST00000357309.3_Missense_Mutation_p.H484Y|ZNF573_ENST00000392138.1_Missense_Mutation_p.H485Y	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			ATGCTCTGATGTGCAGTAAGG	0.358													A	38229677	G	A	38229677	3	1	364	1	0	0	0	0	1	0	0	0	18106	1377	48	2	287	2	ZNF573	19	38229677	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39578	38229677	20899306	13634	37136											
ZNF573	126231	broad.mit.edu	37	chr19	38230584	38230584	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttatatggtttttcgccAgtatgaactctctgatgaat	10	17	7	7	1	1	3	0	3	1	0	3	3	1	3	1	1	1	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38230584A>G	ENST00000339503.4	-	8	1134	c.633T>C	c.(631-633)acT>acC	p.T211T	ZNF573_ENST00000590414.2_Silent_p.T269T|ZNF573_ENST00000536220.1_Silent_p.T181T|ZNF573_ENST00000357309.3_Silent_p.T181T|ZNF573_ENST00000392138.1_Silent_p.T182T	NM_152360.3	NP_689573.3	Q86YE8	ZN573_HUMAN	zinc finger protein 573	249					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(3)|endometrium(2)|large_intestine(8)|liver(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)|Lung(45;0.0813)|LUSC - Lung squamous cell carcinoma(53;0.146)			GTTTTTCGCCAGTATGAACTC	0.428													G	38230584	A	G	38230584	2	3	364	1	0	0	0	0	0	0	0	1	18106	175	7	3		3	ZNF573	19	38230584	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	907	38230584	20898399	13635	37137											
SIPA1L3	23094	broad.mit.edu	37	chr19	38610010	38610010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatccccagtggaaccacaTtccgcaaatccgacgtcttc	10	8	6	17	3	1	0	0	0	1	0	5	2	4	1	6	1	1	1	6	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38610010T>C	ENST00000222345.6	+	9	2865	c.2356T>C	c.(2356-2358)Ttc>Ctc	p.F786L		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	786	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TGGAACCACATTCCGCAAATC	0.552													C	38610010	T	C	38610010	3	2	364	1	0	0	0	0	1	0	0	0	14425	1493	52	3	2382	3	SIPA1L3	19	38610010	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	379426	38610010	20518973	13636	37138											
DPF1	8193	broad.mit.edu	37	chr19	38703001	38703001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcacaaaacagcagctggtCctggggggtgagacccgccc	10	5	13	13	1	1	1	1	1	0	1	2	2	2	1	3	4	3	2	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38703001C>T	ENST00000416611.1	-	11	1168	c.1045G>A	c.(1045-1047)Gac>Aac	p.D349N	DPF1_ENST00000355526.4_Splice_Site_p.D365N|DPF1_ENST00000420980.2_Missense_Mutation_p.D331N|DPF1_ENST00000414789.1_Splice_Site_p.D283N|DPF1_ENST00000456296.1_Splice_Site_p.D339N|DPF1_ENST00000412732.1_Splice_Site_p.D283N			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	331					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			AGCAGCTGGTCCTGGGGGGTG	0.687													T	38703001	C	T	38703001	3	4	364	1	0	0	0	0	1	0	0	0	4755	869	30	2	159	2	DPF1	19	38703001	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92991	38703001	20425982	13637	37139											
DPF1	8193	broad.mit.edu	37	chr19	38713067	38713067	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtttcttcctccaacaGcgggcggggtacgtgtaaat	7	11	11	12	4	1	0	0	0	1	0	4	0	4	0	3	3	3	3	3	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38713067G>A	ENST00000416611.1	-	3	354	c.231C>T	c.(229-231)cgC>cgT	p.R77R	DPF1_ENST00000355526.4_Silent_p.R103R|DPF1_ENST00000420980.2_Silent_p.R103R|DPF1_ENST00000414789.1_Silent_p.R21R|DPF1_ENST00000456296.1_Silent_p.R77R|DPF1_ENST00000412732.1_Silent_p.R21R			Q92782	DPF1_HUMAN	D4, zinc and double PHD fingers family 1	103					induction of apoptosis|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nBAF complex	zinc ion binding			large_intestine(1)|lung(4)|ovary(1)|skin(1)	7	all_cancers(60;1.24e-06)		Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCTCCAACAGCGGGCGGGGT	0.692													A	38713067	G	A	38713067	2	1	364	1	0	0	0	0	0	0	0	1	4755	958	34	2		2	DPF1	19	38713067	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10066	38713067	20415916	13638	37140											
CATSPERG	57828	broad.mit.edu	37	chr19	38861280	38861280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagataaacaacctcattGcctcagaatcctactacacc	15	8	5	13	0	2	2	2	0	0	2	3	3	3	3	4	1	5	0	4	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38861280G>A	ENST00000409235.3	+	29	3443	c.3328G>A	c.(3328-3330)Gcc>Acc	p.A1110T	CATSPERG_ENST00000215069.4_3'UTR|CATSPERG_ENST00000410018.1_Missense_Mutation_p.A1070T	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	1110					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						CAACCTCATTGCCTCAGAATC	0.547													A	38861280	G	A	38861280	3	1	364	1	0	0	0	0	1	0	0	0	2718	1319	46	2	3438	2	CATSPERG	19	38861280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148213	38861280	20267703	13639	37141											
FAM98C	147965	broad.mit.edu	37	chr19	38897713	38897713	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggacctgctgtgccatcaAcaaggtgggcatctggggta	9	8	15	9	0	2	0	1	0	1	0	2	1	2	1	2	5	3	3	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38897713A>T	ENST00000252530.5	+	7	933	c.914A>T	c.(913-915)aAc>aTc	p.N305I	FAM98C_ENST00000343358.7_Intron|FAM98C_ENST00000588262.1_Missense_Mutation_p.Q171H	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	305										endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			TGTGCCATCAACAAGGTGGGC	0.597													T	38897713	A	T	38897713	3	4	364	1	0	0	0	0	1	0	0	0	5707	43	2	5	940	5	FAM98C	19	38897713	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	36433	38897713	20231270	13640	37142											
FAM98C	147965	broad.mit.edu	37	chr19	38899416	38899416	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgggcaacgttccagaccGggggggccgcccaaatgagc	9	5	15	12	3	0	2	0	1	0	1	1	2	1	2	4	4	2	2	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38899416G>C	ENST00000252530.5	+	8	963	c.944G>C	c.(943-945)cGg>cCg	p.R315P	FAM98C_ENST00000343358.7_Missense_Mutation_p.R233P|FAM98C_ENST00000588262.1_Silent_p.P181P	NM_174905.3	NP_777565.3	Q17RN3	FA98C_HUMAN	family with sequence similarity 98, member C	315								p.R315L(1)		endometrium(2)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(60;3.95e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GTTCCAGACCGGGGGGGCCGC	0.562													C	38899416	G	C	38899416	3	2	364	1	0	0	0	0	1	0	0	0	5707	1116	39	4	974	4	FAM98C	19	38899416	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1703	38899416	20229567	13641	37143											
RYR1	6261	broad.mit.edu	37	chr19	38946361	38946361	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatcaagtccatcatctcCctcctggacaagcatgggag	11	8	8	14	0	3	0	2	0	1	0	6	2	5	2	3	2	1	1	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38946361C>T	ENST00000355481.4	+	16	1892	c.1761C>T	c.(1759-1761)tcC>tcT	p.S587S	RYR1_ENST00000360985.3_Silent_p.S587S|RYR1_ENST00000359596.3_Silent_p.S587S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	587	B30.2/SPRY 1.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CCATCATCTCCCTCCTGGACA	0.572													T	38946361	C	T	38946361	2	4	364	1	0	0	0	0	0	0	0	1	13859	610	22	2		2	RYR1	19	38946361	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46945	38946361	20182622	13642	37144											
RYR1	6261	broad.mit.edu	37	chr19	38951154	38951155	+	Frame_Shift_Ins	INS	-	-	A																															gtatcgacgggaggggccccINSgggggcctcacctggtgggc																								rs140686309	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:38951154_38951155insA	ENST00000355481.4	+	20	2631_2632	c.2500_2501insA	c.(2500-2502)cggfs	p.R834fs	RYR1_ENST00000360985.3_Frame_Shift_Ins_p.R834fs|RYR1_ENST00000359596.3_Frame_Shift_Ins_p.R834fs	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	834					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGAGGGGCCCCGGGGGCCTCAC	0.639													A	38951155	-	A	38951154	7	5	364	1	0	1	1	0	0	0	0	0	13859	643	23	0	2578	0	RYR1	19	38951154	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4793	38951154	20177829	13643	37145											
RYR1	6261	broad.mit.edu	37	chr19	39023358	39023358	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacggtgaagctgaagaggaGgttgaggtctcctttgaggt	10	10	16	5	1	1	5	0	4	1	1	2	6	1	6	1	5	2	2	1	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39023358G>T	ENST00000355481.4	+	77	11357	c.11226G>T	c.(11224-11226)gaG>gaT	p.E3742D	RYR1_ENST00000360985.3_Missense_Mutation_p.E3747D|RYR1_ENST00000359596.3_Missense_Mutation_p.E3747D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3747					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTGAAGAGGAGGTTGAGGTCT	0.587													T	39023358	G	T	39023358	3	4	364	1	0	0	0	0	1	0	0	0	13859	991	35	4	11551	4	RYR1	19	39023358	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72204	39023358	20105625	13644	37146											
MAP4K1	11184	broad.mit.edu	37	chr19	39078452	39078452	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggcgtgtctccaccactAcaggcctgtggaaggaagag	9	7	14	11	1	1	1	0	0	1	1	2	3	1	3	3	4	1	0	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39078452A>G	ENST00000591517.1	-	32	2528	c.2500T>C	c.(2500-2502)Tag>Cag	p.*834Q	MAP4K1_ENST00000396857.2_Missense_Mutation_p.V801A|MAP4K1_ENST00000586296.1_Missense_Mutation_p.V375A|MAP4K1_ENST00000589130.1_Missense_Mutation_p.V797A	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	0					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CTCCACCACTACAGGCCTGTG	0.473													G	39078452	A	G	39078452	4	3	364	1	0	0	0	0	0	0	0	0	9334	404	14	3	67	3	MAP4K1	19	39078452	Nonstop_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	55094	39078452	20050531	13645	37147											
MAP4K1	11184	broad.mit.edu	37	chr19	39108527	39108527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaaaatgtcagggtccacGacgtccatccctgggggcct	8	9	12	12	2	1	1	1	1	0	0	4	2	4	1	4	3	0	0	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39108527G>A	ENST00000591517.1	-	1	37	c.9C>T	c.(7-9)gtC>gtT	p.V3V	MAP4K1_ENST00000396857.2_Silent_p.V3V|MAP4K1_ENST00000586296.1_Silent_p.V3V|MAP4K1_ENST00000589130.1_Intron	NM_007181.4	NP_009112.1	Q92918	M4K1_HUMAN	mitogen-activated protein kinase kinase kinase kinase 1	3					activation of JUN kinase activity|peptidyl-serine phosphorylation		ATP binding|MAP kinase kinase kinase kinase activity|protein binding|small GTPase regulator activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(24)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	44	all_cancers(60;6.42e-06)|Ovarian(47;0.103)		Lung(45;0.000751)|LUSC - Lung squamous cell carcinoma(53;0.00272)			CAGGGTCCACGACGTCCATCC	0.642													A	39108527	G	A	39108527	2	1	364	1	0	0	0	0	0	0	0	1	9334	1045	37	1		1	MAP4K1	19	39108527	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30075	39108527	20020456	13646	37148											
ACTN4	81	broad.mit.edu	37	chr19	39214701	39214701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacatgttcatcgtccataCcatcgaggagattgaggttc	10	11	11	9	2	1	2	1	1	0	1	5	5	2	3	2	3	1	2	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39214701C>A	ENST00000252699.2	+	14	1752	c.1676C>A	c.(1675-1677)aCc>aAc	p.T559N	ACTN4_ENST00000424234.2_Missense_Mutation_p.T169N|ACTN4_ENST00000390009.3_Missense_Mutation_p.T340N	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	559					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCGTCCATACCATCGAGGAG	0.642													A	39214701	C	A	39214701	3	1	364	1	0	0	0	0	1	0	0	0	207	507	18	4	1730	4	ACTN4	19	39214701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106174	39214701	19914282	13647	37149											
ECH1	1891	broad.mit.edu	37	chr19	39306645	39306645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctttgtctgggaacaccCggctgcagtgaaagagatca	10	9	11	11	1	3	2	1	1	2	1	3	4	3	3	2	2	2	2	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39306645C>T	ENST00000221418.4	-	9	966	c.734G>A	c.(733-735)cGg>cAg	p.R245Q		NM_001398.2	NP_001389.2			enoyl CoA hydratase 1, peroxisomal											cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	6	all_cancers(60;9.36e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			TGGGAACACCCGGCTGCAGTG	0.617													T	39306645	C	T	39306645	3	4	364	1	0	0	0	0	1	0	0	0	4931	652	23	1	260	1	ECH1	19	39306645	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91944	39306645	19822338	13648	37150											
HNRNPL	3191	broad.mit.edu	37	chr19	39328286	39328286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcttcactcccagctcatcGcagatctgcaaaagaaaaca	14	7	6	14	2	3	2	2	0	1	2	5	2	4	2	1	0	3	4	1	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39328286G>A	ENST00000594769.1	-	4	412	c.413C>T	c.(412-414)gCg>gTg	p.A138V	HNRNPL_ENST00000600873.1_Silent_p.C388C|HNRNPL_ENST00000221419.5_Silent_p.C521C																							CCAGCTCATCGCAGATCTGCA	0.493													A	39328286	G	A	39328286	3	1	364	1	0	0	0	0	1	0	0	0	7325	1079	38	1	218	1	HNRNPL	19	39328286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21641	39328286	19800697	13649	37151											
SARS2	54938	broad.mit.edu	37	chr19	39406518	39406518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggagcgcgatgagaaggCgggggacagcacaggcggtg	10	2	20	9	4	0	1	0	1	0	1	0	5	0	3	1	6	2	1	1	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39406518C>T	ENST00000221431.6	-	15	1535	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	SARS2_ENST00000594171.1_Missense_Mutation_p.R269H|SARS2_ENST00000600042.1_Missense_Mutation_p.R461H|CTC-360G5.8_ENST00000599996.1_Silent_p.P528P|SARS2_ENST00000430193.3_Missense_Mutation_p.R459H|SARS2_ENST00000598831.1_Missense_Mutation_p.R107H|SARS2_ENST00000448145.2_Missense_Mutation_p.R459H	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	459					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			GATGAGAAGGCGGGGGACAGC	0.687													T	39406518	C	T	39406518	3	4	364	1	0	0	0	0	1	0	0	0	13937	768	27	1	188	1	SARS2	19	39406518	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78232	39406518	19722465	13650	37152											
SARS2	54938	broad.mit.edu	37	chr19	39421200	39421200	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcgcagaaccgctctatGtccagctgagggagtgcgct	8	8	13	12	3	1	2	0	1	1	1	2	3	2	3	2	1	4	4	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39421200G>A	ENST00000221431.6	-	1	336	c.177C>T	c.(175-177)gaC>gaT	p.D59D	SARS2_ENST00000600042.1_Silent_p.D59D|MRPS12_ENST00000308018.4_5'UTR|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000430193.3_Silent_p.D59D|SARS2_ENST00000448145.2_Intron	NM_017827.3	NP_060297.1	Q9NP81	SYSM_HUMAN	seryl-tRNA synthetase 2, mitochondrial	59					seryl-tRNA aminoacylation	mitochondrial matrix	ATP binding|protein binding|serine-tRNA ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(60;2.74e-06)|all_epithelial(25;4.36e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			ACCGCTCTATGTCCAGCTGAG	0.627											OREG0025455	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	39421200	G	A	39421200	2	1	364	1	0	0	0	0	0	0	0	1	13937	1368	48	2		2	SARS2	19	39421200	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14682	39421200	19707783	13651	37153											
FBXO17	115290	broad.mit.edu	37	chr19	39433282	39433282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccctcacactggagTgggtcacaagggcgccatag	9	7	12	13	1	2	1	2	1	0	0	3	2	3	2	3	3	0	0	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39433282T>C	ENST00000292852.4	-	6	1144	c.803A>G	c.(802-804)cAc>cGc	p.H268R	FBXO17_ENST00000595329.1_Missense_Mutation_p.H268R|CTC-360G5.8_ENST00000599996.1_Intron|SARS2_ENST00000448145.2_Intron	NM_024907.5	NP_079183.4			F-box protein 17											breast(1)|endometrium(1)|large_intestine(1)|lung(3)|prostate(1)	7	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			CACACTGGAGTGGGTCACAAG	0.577													C	39433282	T	C	39433282	3	2	364	1	0	0	0	0	1	0	0	0	5779	1696	59	3	37	3	FBXO17	19	39433282	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	12082	39433282	19695701	13652	37154											
NCCRP1	342897	broad.mit.edu	37	chr19	39691388	39691388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccgtgtctgtgcagctcCgggagtgactggctggctcc	3	10	14	14	2	1	1	0	1	1	0	4	2	4	2	4	3	2	4	4	3	0	0	rs113786921		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39691388C>T	ENST00000339852.4	+	6	842	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	274					protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGTGCAGCTCCGGGAGTGACT	0.607													T	39691388	C	T	39691388	3	4	364	1	0	0	0	0	1	0	0	0	10289	643	23	1	842	1	NCCRP1	19	39691388	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	258106	39691388	19437595	13653	37155											
LRFN1	57622	broad.mit.edu	37	chr19	39805018	39805018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcacccaccgctcggcagCgcaggctcaccgcctggcct	5	5	12	19	4	2	0	2	0	0	0	3	0	2	0	5	4	1	4	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805018C>T	ENST00000248668.4	-	1	958	c.959G>A	c.(958-960)cGc>cAc	p.R320H		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	320	Ig-like.					cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CGCTCGGCAGCGCAGGCTCAC	0.741													T	39805018	C	T	39805018	3	4	364	1	0	0	0	0	1	0	0	0	9007	768	27	1	1364	1	LRFN1	19	39805018	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113630	39805018	19323965	13654	37156											
LRFN1	57622	broad.mit.edu	37	chr19	39805603	39805603	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgccgcgcacctccgccAggcggttgctgtccaggtgc	3	7	15	16	5	0	0	0	0	0	0	3	0	2	0	5	4	2	3	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39805603A>T	ENST00000248668.4	-	1	373	c.374T>A	c.(373-375)cTg>cAg	p.L125Q	CTC-246B18.8_ENST00000601911.1_RNA	NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	125						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			CACCTCCGCCAGGCGGTTGCT	0.701													T	39805603	A	T	39805603	3	4	364	1	0	0	0	0	1	0	0	0	9007	188	7	5	1949	5	LRFN1	19	39805603	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	585	39805603	19323380	13655	37157											
PAF1	54623	broad.mit.edu	37	chr19	39880395	39880395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaggaagtggctttgtactgGacgaacctgggtggggaaac	11	8	16	6	1	0	0	0	0	0	0	0	4	0	3	1	6	3	2	1	6	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880395G>A	ENST00000221265.3	-	4	507	c.177C>T	c.(175-177)gtC>gtT	p.V59V	PAF1_ENST00000595564.1_Silent_p.V49V|PAF1_ENST00000221266.7_Silent_p.V49V	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	59					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			CTTTGTACTGGACGAACCTGG	0.552													A	39880395	G	A	39880395	2	1	364	1	0	0	0	0	0	0	0	1	11459	1161	41	2		2	PAF1	19	39880395	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74792	39880395	19248588	13656	37158											
PAF1	54623	broad.mit.edu	37	chr19	39880742	39880742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggggtaggtgatgaacttgGggtcgaaggggatatcaggg	10	8	20	3	1	1	2	1	2	0	0	2	4	1	3	0	8	1	1	0	8	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39880742G>T	ENST00000221265.3	-	3	467	c.137C>A	c.(136-138)cCc>cAc	p.P46H	PAF1_ENST00000595564.1_Missense_Mutation_p.P36H|PAF1_ENST00000221266.7_Missense_Mutation_p.P36H	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	46					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			GATGAACTTGGGGTCGAAGGG	0.537													T	39880742	G	T	39880742	3	4	364	1	0	0	0	0	1	0	0	0	11459	1232	43	4	1506	4	PAF1	19	39880742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	347	39880742	19248241	13657	37159											
PLEKHG2	64857	broad.mit.edu	37	chr19	39907053	39907053	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgagtgcttcgtgcagaGggtgagtggaggggtggggg	5	8	23	5	2	0	2	0	1	0	1	1	4	0	3	1	6	3	2	1	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39907053G>T	ENST00000425673.1	+	5	870	c.545G>T	c.(544-546)aGg>aTg	p.R182M	PLEKHG2_ENST00000409794.3_Splice_Site_p.R182M|PLEKHG2_ENST00000378550.1_Splice_Site_p.R182M|PLEKHG2_ENST00000458508.2_Splice_Site_p.R123M|PLEKHG2_ENST00000409797.2_Splice_Site_p.R182M			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	182	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGTGCAGAGGGTGAGTGGA	0.667													T	39907053	G	T	39907053	5	4	364	1	0	0	0	0	0	0	1	0	12146	1014	35	4	559	4	PLEKHG2	19	39907053	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26311	39907053	19221930	13658	37160											
SUPT5H	6829	broad.mit.edu	37	chr19	39948334	39948334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgttgacgatgagtatgaGgacgaggaccagtgggagga	12	7	18	4	2	0	3	0	3	0	0	0	10	0	7	1	4	0	2	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39948334G>T	ENST00000599117.1	+	5	628	c.261G>T	c.(259-261)gaG>gaT	p.E87D	SUPT5H_ENST00000598725.1_Missense_Mutation_p.E87D|SUPT5H_ENST00000359191.6_Missense_Mutation_p.E87D|SUPT5H_ENST00000402194.2_Missense_Mutation_p.E87D|SUPT5H_ENST00000432763.2_Missense_Mutation_p.E87D			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	87	Glu-rich.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			ATGAGTATGAGGACGAGGACC	0.537													T	39948334	G	T	39948334	3	4	364	1	0	0	0	0	1	0	0	0	15495	991	35	4	271	4	SUPT5H	19	39948334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41281	39948334	19180649	13659	37161											
SUPT5H	6829	broad.mit.edu	37	chr19	39959494	39959494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttcaagagcttcgccatgtCtgctgtggtgagggtcccag	6	11	14	10	1	2	2	1	1	1	1	4	2	3	2	2	2	2	3	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:39959494C>T	ENST00000599117.1	+	15	1503	c.1136C>T	c.(1135-1137)tCt>tTt	p.S379F	SUPT5H_ENST00000598725.1_Missense_Mutation_p.S379F|SUPT5H_ENST00000359191.6_Missense_Mutation_p.S375F|SUPT5H_ENST00000402194.2_Missense_Mutation_p.S375F|SUPT5H_ENST00000432763.2_Missense_Mutation_p.S379F			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	379	Interaction with RNA polymerase II.				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			TTCGCCATGTCTGCTGTGGTG	0.572													T	39959494	C	T	39959494	3	4	364	1	0	0	0	0	1	0	0	0	15495	913	32	2	1186	2	SUPT5H	19	39959494	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11160	39959494	19169489	13660	37162											
FBL	2091	broad.mit.edu	37	chr19	40327309	40327309	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagatcacatccaccattgCtaaggagaaaggagcagcag	17	5	10	9	0	1	2	1	0	0	2	2	4	2	3	2	2	3	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40327309C>T	ENST00000221801.3	-	7	796		c.e7-1		FBL_ENST00000593503.1_Splice_Site	NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin						rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		TCCACCATTGCTAAGGAGAAA	0.547													T	40327309	C	T	40327309	5	4	364	1	0	0	0	0	0	0	1	0	5745	811	28	2	295	2	FBL	19	40327309	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	367815	40327309	18801674	13661	37163											
FBL	2091	broad.mit.edu	37	chr19	40329705	40329705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcagagacatgggagacCgtggtgcccgaggcagcccc	9	5	15	12	2	1	2	1	0	0	2	1	5	1	2	4	3	2	1	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40329705C>T	ENST00000221801.3	-	5	632	c.519G>A	c.(517-519)acG>acA	p.T173T		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	173	S-adenosyl-L-methionine binding (By similarity).				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGGGAGACCGTGGTGCCCG	0.587													T	40329705	C	T	40329705	2	4	364	1	0	0	0	0	0	0	0	1	5745	639	23	1		1	FBL	19	40329705	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2396	40329705	18799278	13662	37164											
FCGBP	8857	broad.mit.edu	37	chr19	40412178	40412178	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggtctccacaggacagCgggcagccgtaggaacacgc	10	3	16	12	3	1	0	0	0	1	0	2	3	1	3	2	5	3	2	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40412178C>T	ENST00000221347.6	-	7	3457	c.3450G>A	c.(3448-3450)ccG>ccA	p.P1150P		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1150	Cys-rich.|TIL 2.					extracellular region	protein binding	p.P1150P(1)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CACAGGACAGCGGGCAGCCGT	0.622													T	40412178	C	T	40412178	2	4	364	1	0	0	0	0	0	0	0	1	5827	755	27	1		1	FCGBP	19	40412178	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82473	40412178	18716805	13663	37165											
FCGBP	8857	broad.mit.edu	37	chr19	40419877	40419877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggttcagttgctccacaGccgggcctcgtctcttcttg	3	12	10	16	3	3	0	1	0	2	0	6	0	4	0	4	2	2	3	4	2	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40419877G>A	ENST00000221347.6	-	6	3124	c.3117C>T	c.(3115-3117)ggC>ggT	p.G1039G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1039	VWFD 2.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TTGCTCCACAGCCGGGCCTCG	0.622													A	40419877	G	A	40419877	2	1	364	1	0	0	0	0	0	0	0	1	5827	958	34	2		2	FCGBP	19	40419877	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7699	40419877	18709106	13664	37166											
FCGBP	8857	broad.mit.edu	37	chr19	40433186	40433186	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatagccttcgtctgtgcCactaccagggccacgccctc	6	9	9	17	2	1	1	0	1	1	0	3	1	1	1	5	1	3	0	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433186C>T	ENST00000221347.6	-	2	1090	c.1083G>A	c.(1081-1083)gtG>gtA	p.V361V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	361	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			TCGTCTGTGCCACTACCAGGG	0.607													T	40433186	C	T	40433186	2	4	364	1	0	0	0	0	0	0	0	1	5827	581	21	2		2	FCGBP	19	40433186	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13309	40433186	18695797	13665	37167											
FCGBP	8857	broad.mit.edu	37	chr19	40433710	40433710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcttaggacatcgcctgCtggatagaacttgccattga	10	11	9	11	1	1	2	0	1	1	1	2	4	1	4	2	2	3	1	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40433710C>T	ENST00000221347.6	-	2	566	c.559G>A	c.(559-561)Gca>Aca	p.A187T		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	187	IgGFc-binding.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			ACATCGCCTGCTGGATAGAAC	0.567													T	40433710	C	T	40433710	3	4	364	1	0	0	0	0	1	0	0	0	5827	797	28	2	15798	2	FCGBP	19	40433710	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	524	40433710	18695273	13666	37168											
ZNF780A	284323	broad.mit.edu	37	chr19	40581101	40581101	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactccttacattcataTggttttataccagcatgaat	12	14	4	11	0	1	1	1	1	0	0	2	1	2	1	3	1	3	2	3	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40581101T>C	ENST00000450241.2	-	6	1457	c.1146A>G	c.(1144-1146)ccA>ccG	p.P382P	ZNF780A_ENST00000340963.5_Silent_p.P416P|ZNF780A_ENST00000594395.1_Silent_p.P417P|ZNF780A_ENST00000414720.2_Intron|ZNF780A_ENST00000455521.1_Silent_p.P417P|AC005614.5_ENST00000595508.1_RNA|ZNF780A_ENST00000595687.2_Silent_p.P416P			O75290	Z780A_HUMAN	zinc finger protein 780A	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|upper_aerodigestive_tract(3)|urinary_tract(1)	31	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					TACATTCATATGGTTTTATAC	0.383													C	40581101	T	C	40581101	2	2	364	1	0	0	0	0	0	0	0	1	18251	1451	51	3		3	ZNF780A	19	40581101	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	147391	40581101	18547882	13667	37169											
MAP3K10	4294	broad.mit.edu	37	chr19	40715068	40715068	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggataagcggaaaggatcCgatggggccagcccccctgc	9	5	14	13	2	0	0	0	0	0	0	1	4	1	3	5	5	3	0	5	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40715068C>T	ENST00000253055.3	+	6	1782	c.1494C>T	c.(1492-1494)tcC>tcT	p.S498S		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	498					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						GGAAAGGATCCGATGGGGCCA	0.562													T	40715068	C	T	40715068	2	4	364	1	0	0	0	0	0	0	0	1	9319	639	23	1		1	MAP3K10	19	40715068	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	133967	40715068	18413915	13668	37170											
AKT2	208	broad.mit.edu	37	chr19	40744860	40744860	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcacaggcggtcgtgggtCtggaaggcatacttcagcgc	9	7	15	10	3	2	0	1	0	1	0	3	1	2	1	0	5	3	2	0	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40744860C>T	ENST00000392038.2	-	8	958	c.660G>A	c.(658-660)caG>caA	p.Q220Q	AKT2_ENST00000424901.1_Silent_p.Q220Q|AKT2_ENST00000311278.6_Silent_p.Q220Q|AKT2_ENST00000579047.1_Silent_p.Q158Q	NM_001243027.1|NM_001243028.1|NM_001626.4	NP_001229956.1|NP_001229957.1|NP_001617.1	P31751	AKT2_HUMAN	v-akt murine thymoma viral oncogene homolog 2	220	Protein kinase.				insulin receptor signaling pathway|negative regulation of plasma membrane long-chain fatty acid transport|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|kidney(3)|large_intestine(9)|lung(10)|prostate(2)|skin(1)	27			Lung(22;0.000499)			GGTCGTGGGTCTGGAAGGCAT	0.652			A		"ovarian, pancreatic "								T	40744860	C	T	40744860	2	4	364	1	0	0	0	0	0	0	0	1	480	912	32	2		2	AKT2	19	40744860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29792	40744860	18384123	13669	37171											
PLD3	23646	broad.mit.edu	37	chr19	40872796	40872796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttgggcccaaccagcgCccagccccctgctatgaccc	6	7	8	20	1	1	1	0	1	1	0	1	1	1	1	6	1	4	1	6	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40872796C>T	ENST00000409587.1	+	5	616	c.219C>T	c.(217-219)cgC>cgT	p.R73R	PLD3_ENST00000409735.4_Silent_p.R73R|PLD3_ENST00000409419.1_Silent_p.R73R|PLD3_ENST00000409281.1_Silent_p.R73R|PLD3_ENST00000356508.5_Silent_p.R73R			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	73					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CCAACCAGCGCCCAGCCCCCT	0.592													T	40872796	C	T	40872796	2	4	364	1	0	0	0	0	0	0	0	1	12124	726	26	2		2	PLD3	19	40872796	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127936	40872796	18256187	13670	37172											
PLD3	23646	broad.mit.edu	37	chr19	40876110	40876110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagacccacttctacctggGcagtgccaacatggactggc	9	7	10	15	0	1	1	0	0	1	1	1	2	1	2	4	3	3	1	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40876110G>A	ENST00000409587.1	+	8	1041	c.644G>A	c.(643-645)gGc>gAc	p.G215D	PLD3_ENST00000409735.4_Missense_Mutation_p.G215D|PLD3_ENST00000409419.1_Missense_Mutation_p.G215D|PLD3_ENST00000409281.1_Missense_Mutation_p.G215D|PLD3_ENST00000356508.5_Missense_Mutation_p.G215D			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	215	PLD phosphodiesterase 1.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TTCTACCTGGGCAGTGCCAAC	0.622													A	40876110	G	A	40876110	3	1	364	1	0	0	0	0	1	0	0	0	12124	1203	42	2	666	2	PLD3	19	40876110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3314	40876110	18252873	13671	37173											
HIPK4	147746	broad.mit.edu	37	chr19	40890006	40890006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatggctccttcacgtagCgcacctcgctgaaaatgctg	8	11	10	12	3	1	1	1	1	0	0	3	1	2	1	2	1	2	6	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40890006C>T	ENST00000291823.2	-	2	790	c.506G>A	c.(505-507)cGc>cAc	p.R169H		NM_144685.3	NP_653286.2	Q8NE63	HIPK4_HUMAN	homeodomain interacting protein kinase 4	169	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	20			Lung(22;4.95e-05)|LUSC - Lung squamous cell carcinoma(20;0.000292)			CTTCACGTAGCGCACCTCGCT	0.642													T	40890006	C	T	40890006	3	4	364	1	0	0	0	0	1	0	0	0	7174	768	27	1	1356	1	HIPK4	19	40890006	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13896	40890006	18238977	13672	37174											
PRX	57716	broad.mit.edu	37	chr19	40902826	40902826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctggcacctttgggAgtttcatctctgacaccttg	6	14	8	13	0	3	1	1	1	2	0	5	2	3	2	3	2	0	2	3	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902826A>G	ENST00000324001.7	-	7	1703	c.1433T>C	c.(1432-1434)cTc>cCc	p.L478P	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	478	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACCTTTGGGAGTTTCATCTC	0.582													G	40902826	A	G	40902826	3	3	364	1	0	0	0	0	1	0	0	0	12727	304	11	3	2956	3	PRX	19	40902826	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	12820	40902826	18226157	13673	37175											
PRX	57716	broad.mit.edu	37	chr19	40902982	40902982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgggccctgacactccgatgCcaagggagggcatcttgatg	8	7	14	12	2	1	2	0	2	1	0	2	4	2	3	3	3	1	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40902982C>T	ENST00000324001.7	-	7	1547	c.1277G>A	c.(1276-1278)gGc>gAc	p.G426D	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	426					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CACTCCGATGCCAAGGGAGGG	0.612													T	40902982	C	T	40902982	3	4	364	1	0	0	0	0	1	0	0	0	12727	739	26	2	3112	2	PRX	19	40902982	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156	40902982	18226001	13674	37176											
SPTBN4	57731	broad.mit.edu	37	chr19	40998936	40998936	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagccaaggatgctctgctcTtgtggtgtcagatgaagaca	10	10	12	9	0	3	3	1	1	2	2	3	4	3	4	1	2	3	2	1	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:40998936T>G	ENST00000352632.3	+	5	648	c.562T>G	c.(562-564)Ttg>Gtg	p.L188V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.L188V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.L188V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.L188V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	188	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.L188V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCTCTGCTCTTGTGGTGTCA	0.502													G	40998936	T	G	40998936	3	3	364	1	0	0	0	0	1	0	0	0	15217	1606	56	5	576	5	SPTBN4	19	40998936	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	95954	40998936	18130047	13675	37177											
SPTBN4	57731	broad.mit.edu	37	chr19	41008321	41008321	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagaaggggaacctagaGgtgctgctcttcagcatcca	11	7	13	10	0	2	2	1	0	1	2	3	4	3	3	2	4	4	3	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41008321G>T	ENST00000352632.3	+	10	1196	c.1110G>T	c.(1108-1110)gaG>gaT	p.E370D	SPTBN4_ENST00000595535.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E370D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E370D|SPTBN4_ENST00000344104.3_Missense_Mutation_p.E370D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	370					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GGAACCTAGAGGTGCTGCTCT	0.617													T	41008321	G	T	41008321	3	4	364	1	0	0	0	0	1	0	0	0	15217	991	35	4	1144	4	SPTBN4	19	41008321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9385	41008321	18120662	13676	37178											
SPTBN4	57731	broad.mit.edu	37	chr19	41009792	41009792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccatgaagaaacacgaagCgatcgaggcagacattgcgg	15	4	13	9	4	0	3	0	1	0	2	1	6	0	3	1	2	4	1	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41009792C>T	ENST00000352632.3	+	12	1504	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A473V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A473V|SPTBN4_ENST00000344104.3_Missense_Mutation_p.A473V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	473					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AAACACGAAGCGATCGAGGCA	0.627													T	41009792	C	T	41009792	3	4	364	1	0	0	0	0	1	0	0	0	15217	768	27	1	1460	1	SPTBN4	19	41009792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1471	41009792	18119191	13677	37179											
SPTBN4	57731	broad.mit.edu	37	chr19	41038566	41038566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagaagatgctgatggCgcgggatggcacgcgggagg	9	5	19	8	4	0	3	0	2	0	2	0	6	0	5	1	5	1	2	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41038566C>T	ENST00000352632.3	+	19	4069	c.3983C>T	c.(3982-3984)gCg>gTg	p.A1328V	SPTBN4_ENST00000595535.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.A1328V|SPTBN4_ENST00000598249.1_Missense_Mutation_p.A1328V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.A71V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.A4V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1328					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton	p.A1328V(1)		breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ATGCTGATGGCGCGGGATGGC	0.612													T	41038566	C	T	41038566	3	4	364	1	0	0	0	0	1	0	0	0	15217	768	27	1	4053	1	SPTBN4	19	41038566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28774	41038566	18090417	13678	37180											
SPTBN4	57731	broad.mit.edu	37	chr19	41040140	41040140	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaagcagaccagctggtgCagagctttgctgagctggac	10	7	14	10	0	0	3	0	1	0	2	0	4	0	4	1	2	6	7	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41040140C>T	ENST00000352632.3	+	20	4335	c.4249C>T	c.(4249-4251)Cag>Tag	p.Q1417*	SPTBN4_ENST00000595535.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000338932.3_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000598249.1_Nonsense_Mutation_p.Q1417*|SPTBN4_ENST00000392025.1_Nonsense_Mutation_p.Q160*|SPTBN4_ENST00000392023.1_Nonsense_Mutation_p.Q93*			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1417					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGCTGGTGCAGAGCTTTGC	0.612													T	41040140	C	T	41040140	4	4	364	1	0	0	0	0	0	1	0	0	15217	711	25	2	4323	2	SPTBN4	19	41040140	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1574	41040140	18088843	13679	37181											
SHKBP1	92799	broad.mit.edu	37	chr19	41086793	41086793	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcagcagccaccggcagCgagatcctgctatgggctct	7	7	14	13	2	1	1	0	0	1	1	2	2	2	1	3	3	4	5	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41086793C>T	ENST00000291842.5	+	9	844	c.795C>T	c.(793-795)agC>agT	p.S265S	SHKBP1_ENST00000600733.1_Silent_p.S265S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	265						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCACCGGCAGCGAGATCCTGC	0.607													T	41086793	C	T	41086793	2	4	364	1	0	0	0	0	0	0	0	1	14378	767	27	1		1	SHKBP1	19	41086793	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46653	41086793	18042190	13680	37182											
SHKBP1	92799	broad.mit.edu	37	chr19	41095083	41095083	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctctcatctactgggcagCggtgaggacagtcctgtcca	7	10	12	12	1	3	1	1	1	2	0	6	2	5	2	2	3	2	1	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41095083C>T	ENST00000291842.5	+	15	1637	c.1588C>T	c.(1588-1590)Cgg>Tgg	p.R530W	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Splice_Site_p.R505W	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	530						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TACTGGGCAGCGGTGAGGACA	0.617													T	41095083	C	T	41095083	5	4	364	1	0	0	0	0	0	0	1	0	14378	782	27	1	1646	1	SHKBP1	19	41095083	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8290	41095083	18033900	13681	37183											
LTBP4	8425	broad.mit.edu	37	chr19	41120228	41120228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctcctcagacgtggaCgaatgtcgcgagcgaggccc	7	7	12	15	5	2	1	1	0	1	1	5	5	3	2	3	2	1	0	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41120228C>T	ENST00000308370.7	+	22	2889	c.2889C>T	c.(2887-2889)gaC>gaT	p.D963D	LTBP4_ENST00000545697.1_Silent_p.D416D|LTBP4_ENST00000204005.9_Silent_p.D926D|LTBP4_ENST00000396819.3_Silent_p.D896D|LTBP4_ENST00000243562.9_Silent_p.D61D|LTBP4_ENST00000602240.1_3'UTR	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	963	Cys-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CAGACGTGGACGAATGTCGCG	0.652													T	41120228	C	T	41120228	2	4	364	1	0	0	0	0	0	0	0	1	9146	535	19	1		1	LTBP4	19	41120228	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25145	41120228	18008755	13682	37184											
ADCK4	79934	broad.mit.edu	37	chr19	41206296	41206296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatgcccagcacccgtgtCgtgcacagctccttaaccac	8	8	7	18	2	0	0	0	0	0	0	3	0	2	0	5	0	5	3	5	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41206296C>T	ENST00000324464.3	-	11	1255	c.954G>A	c.(952-954)acG>acA	p.T318T	ADCK4_ENST00000243583.6_Silent_p.T277T|ADCK4_ENST00000450541.1_Silent_p.T277T	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	318	Protein kinase.		T -> M (in dbSNP:rs55899516).			integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GCACCCGTGTCGTGCACAGCT	0.642													T	41206296	C	T	41206296	2	4	364	1	0	0	0	0	0	0	0	1	290	871	31	1		1	ADCK4	19	41206296	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	86068	41206296	17922687	13683	37185											
ITPKC	80271	broad.mit.edu	37	chr19	41223253	41223253	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctccacagcgagccTgagagggccggcctcgggcc	6	4	14	17	3	0	1	0	1	0	1	3	3	2	1	7	3	3	0	7	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223253T>C	ENST00000263370.2	+	1	246	c.213T>C	c.(211-213)ccT>ccC	p.P71P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	71						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			ACAGCGAGCCTGAGAGGGCCG	0.756													C	41223253	T	C	41223253	2	2	364	1	0	0	0	0	0	0	0	1	7977	1567	55	3		3	ITPKC	19	41223253	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16957	41223253	17905730	13684	37186											
ITPKC	80271	broad.mit.edu	37	chr19	41223437	41223437	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggtcagagctggagAcgacttgtctttggacggag	8	9	17	7	2	2	2	1	0	1	2	2	7	2	5	0	5	2	2	0	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41223437A>C	ENST00000263370.2	+	1	430	c.397A>C	c.(397-399)Acg>Ccg	p.T133P		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	133						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			AGAGCTGGAGACGACTTGTCT	0.607													C	41223437	A	C	41223437	3	2	364	1	0	0	0	0	1	0	0	0	7977	275	10	5	399	5	ITPKC	19	41223437	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	184	41223437	17905546	13685	37187											
ITPKC	80271	broad.mit.edu	37	chr19	41224105	41224105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggttgaggggggcagcggCggcttctcctctgcctcttc	2	10	16	13	3	3	1	0	1	3	0	5	1	3	1	2	6	2	3	2	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41224105C>T	ENST00000263370.2	+	1	1098	c.1065C>T	c.(1063-1065)ggC>ggT	p.G355G		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	355						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGGGCAGCGGCGGCTTCTCCT	0.692													T	41224105	C	T	41224105	2	4	364	1	0	0	0	0	0	0	0	1	7977	755	27	1		1	ITPKC	19	41224105	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	668	41224105	17904878	13686	37188											
ITPKC	80271	broad.mit.edu	37	chr19	41235124	41235124	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggaacttccaggcaggaGaggatggtcggattctgaaa	12	8	15	6	1	1	2	0	1	1	1	3	6	2	5	1	6	1	1	1	6	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41235124G>T	ENST00000263370.2	+	3	1306	c.1273G>T	c.(1273-1275)Gag>Tag	p.E425*		NM_025194.2	NP_079470.1	Q96DU7	IP3KC_HUMAN	inositol-trisphosphate 3-kinase C	425						cytoplasm|nucleus	ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	14			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			CCAGGCAGGAGAGGATGGTCG	0.532													T	41235124	G	T	41235124	4	4	364	1	0	0	0	0	0	1	0	0	7977	943	33	4	1283	4	ITPKC	19	41235124	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11019	41235124	17893859	13687	37189											
C19orf54	284325	broad.mit.edu	37	chr19	41249867	41249867	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacacggctcatggttgaAgtcctcgtcgtagctggtgc	6	11	13	11	3	1	2	1	2	0	0	4	2	2	2	1	3	2	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41249867A>C	ENST00000378313.2	-	5	780	c.661T>G	c.(661-663)Ttc>Gtc	p.F221V	C19orf54_ENST00000470681.1_Silent_p.T41T|C19orf54_ENST00000339153.3_Missense_Mutation_p.F49V|C19orf54_ENST00000598729.1_Missense_Mutation_p.F49V|C19orf54_ENST00000598485.2_Missense_Mutation_p.F49V	NM_198476.3	NP_940878.3	Q5BKX5	CS054_HUMAN	chromosome 19 open reading frame 54	221										breast(1)|lung(1)|urinary_tract(2)	4			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TCATGGTTGAAGTCCTCGTCG	0.622													C	41249867	A	C	41249867	3	2	364	1	0	0	0	0	1	0	0	0	1955	72	3	5	402	5	C19orf54	19	41249867	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14743	41249867	17879116	13688	37190											
SNRPA	6626	broad.mit.edu	37	chr19	41265336	41265336	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctgctctctgtttggtagCgtatccagtatgccaagacc	7	14	9	11	1	2	1	0	0	2	1	4	1	3	1	3	1	3	5	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41265336C>T	ENST00000243563.3	+	3	797	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SNRPA_ENST00000599570.1_3'UTR	NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	83	RRM 1.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			tgtTTGGTAGCGTATCCAGTA	0.532													T	41265336	C	T	41265336	5	4	364	1	0	0	0	0	0	0	1	0	14953	782	27	1	257	1	SNRPA	19	41265336	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15469	41265336	17863647	13689	37191											
EGLN2	112398	broad.mit.edu	37	chr19	41306600	41306600	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggagagttacctgccCtgtcccctgctcccctccta	5	10	10	16	0	0	1	0	0	0	1	3	3	3	2	7	2	3	2	7	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41306600C>A	ENST00000593726.1	+	1	1151	c.123C>A	c.(121-123)ccC>ccA	p.P41P	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Silent_p.P41P|EGLN2_ENST00000303961.4_Silent_p.P41P			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	41					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	GTTACCTGCCCTGTCCCCTGC	0.652													A	41306600	C	A	41306600	2	1	364	1	0	0	0	0	0	0	0	1	5008	668	24	4		4	EGLN2	19	41306600	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41264	41306600	17822383	13690	37192											
EGLN2	112398	broad.mit.edu	37	chr19	41307129	41307129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctcaaacggggtgggCgcctgcgagacgggcagcta	8	4	17	12	4	1	1	1	0	0	1	1	2	1	1	2	5	3	2	2	5	2	1	rs140368149		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41307129C>T	ENST00000593726.1	+	1	1680	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000406058.2_Missense_Mutation_p.R218C|EGLN2_ENST00000303961.4_Missense_Mutation_p.R218C			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	218					cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	ACGGGGTGGGCGCCTGCGAGA	0.682													T	41307129	C	T	41307129	3	4	364	1	0	0	0	0	1	0	0	0	5008	768	27	1	654	1	EGLN2	19	41307129	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	529	41307129	17821854	13691	37193											
CYP2B6	1555	broad.mit.edu	37	chr19	41518713	41518713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaagcttttatccccttCtccttaggtaagctggaccc	8	13	7	13	0	1	1	0	1	1	0	3	2	2	2	4	2	2	3	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41518713C>A	ENST00000324071.4	+	8	1294	c.1287C>A	c.(1285-1287)ttC>ttA	p.F429L	CYP2B6_ENST00000330446.5_Missense_Mutation_p.F229L|CYP2B6_ENST00000593831.1_Missense_Mutation_p.F193L	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	429					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	TTATCCCCTTCTCCTTAGGTA	0.458													A	41518713	C	A	41518713	3	1	364	1	0	0	0	0	1	0	0	0	4197	912	32	4	1317	4	CYP2B6	19	41518713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211584	41518713	17610270	13692	37194											
AXL	558	broad.mit.edu	37	chr19	41748813	41748813	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaccttcaactcctgccttCtcgtggccctggtggtatgt	5	13	10	13	1	2	0	1	0	1	0	4	1	3	0	4	3	3	1	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41748813C>T	ENST00000301178.4	+	11	1528	c.1338C>T	c.(1336-1338)ttC>ttT	p.F446F	AXL_ENST00000359092.3_Silent_p.F437F|AXL_ENST00000593513.1_Silent_p.F178F	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	446						integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CTCCTGCCTTCTCGTGGCCCT	0.567													T	41748813	C	T	41748813	2	4	364	1	0	0	0	0	0	0	0	1	1243	912	32	2		2	AXL	19	41748813	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	230100	41748813	17380170	13693	37195											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41787069	41787069	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctatttcttccgtcaggCgaagagcctttctcctatgg	6	14	9	12	2	3	1	1	0	2	1	5	2	4	1	4	2	2	0	4	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41787069C>T	ENST00000392006.3	+	7	1061	c.888C>T	c.(886-888)ggC>ggT	p.G296G	HNRNPUL1_ENST00000595018.1_Splice_Site_p.G196G|HNRNPUL1_ENST00000602130.1_Splice_Site_p.G296G|HNRNPUL1_ENST00000263367.3_Splice_Site_p.G207G|HNRNPUL1_ENST00000378215.4_Intron|HNRNPUL1_ENST00000352456.3_Splice_Site_p.G196G|HNRNPUL1_ENST00000593587.1_Splice_Site_p.G196G	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	296	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						TTCCGTCAGGCGAAGAGCCTT	0.438													T	41787069	C	T	41787069	5	4	364	1	0	0	0	0	0	0	1	0	7329	782	27	1	914	1	HNRNPUL1	19	41787069	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38256	41787069	17341914	13694	37196											
HNRNPUL1	11100	broad.mit.edu	37	chr19	41798220	41798220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggatgggcattgctttccGaatccagaaggaagccttgg	9	10	14	8	1	0	1	0	0	0	1	2	4	2	3	3	4	2	2	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41798220G>A	ENST00000392006.3	+	8	1243	c.1070G>A	c.(1069-1071)cGa>cAa	p.R357Q	HNRNPUL1_ENST00000595018.1_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000602130.1_Missense_Mutation_p.R357Q|HNRNPUL1_ENST00000263367.3_Missense_Mutation_p.R268Q|HNRNPUL1_ENST00000378215.4_Missense_Mutation_p.R243Q|HNRNPUL1_ENST00000352456.3_Missense_Mutation_p.R257Q|HNRNPUL1_ENST00000593587.1_Missense_Mutation_p.R257Q	NM_007040.3	NP_008971.2	Q9BUJ2	HNRL1_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 1	357	B30.2/SPRY.|Necessary for interaction with TP53.				nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	enzyme binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	29						ATTGCTTTCCGAATCCAGAAG	0.478													A	41798220	G	A	41798220	3	1	364	1	0	0	0	0	1	0	0	0	7329	1058	37	1	1100	1	HNRNPUL1	19	41798220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11151	41798220	17330763	13695	37197											
BCKDHA	593	broad.mit.edu	37	chr19	41925141	41925141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagatgcctgtccactacGgctgcaaggaacgccacttc	9	7	10	15	2	0	1	0	0	0	1	2	2	1	2	4	2	4	2	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:41925141G>A	ENST00000269980.2	+	5	954	c.586G>A	c.(586-588)Ggc>Agc	p.G196S	CTC-435M10.3_ENST00000540732.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000457836.2_Missense_Mutation_p.G174S|BCKDHA_ENST00000595085.1_Missense_Mutation_p.G230S|BCKDHA_ENST00000535632.1_3'UTR	NM_000709.3|NM_001164783.1	NP_000700.1|NP_001158255.1	P12694	ODBA_HUMAN	branched chain keto acid dehydrogenase E1, alpha polypeptide	196					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|alpha-ketoacid dehydrogenase activity|carboxy-lyase activity|metal ion binding|protein binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)	10						TGTCCACTACGGCTGCAAGGA	0.572													A	41925141	G	A	41925141	3	1	364	1	0	0	0	0	1	0	0	0	1364	1116	39	1	604	1	BCKDHA	19	41925141	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126921	41925141	17203842	13696	37198											
CEACAM21	90273	broad.mit.edu	37	chr19	42083694	42083694	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagctatggctggtacaaAgggaaaacggtggagcccaa	14	6	13	8	1	0	0	0	0	0	0	0	2	0	2	1	5	5	3	1	5	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42083694A>G	ENST00000187608.9	+	2	247	c.207A>G	c.(205-207)aaA>aaG	p.K69K	CEACAM21_ENST00000407170.2_5'UTR|CEACAM21_ENST00000401445.2_Silent_p.K69K|CEACAM21_ENST00000482870.2_3'UTR	NM_001098506.1|NM_033543.3	NP_001091976.1|NP_291021	Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	69						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						GCTGGTACAAAGGGAAAACGG	0.483													G	42083694	A	G	42083694	2	3	364	1	0	0	0	0	0	0	0	1	3222	69	3	3		3	CEACAM21	19	42083694	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	158553	42083694	17045289	13697	37199											
CEACAM21	90273	broad.mit.edu	37	chr19	42085687	42085687	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccccaagacactttctgTtggtcactctatccacagag	9	11	8	13	0	3	2	1	0	2	2	4	2	4	2	3	2	0	1	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42085687T>C	ENST00000407170.2	+	4	835	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CEACAM21_ENST00000187608.9_Intron|CEACAM21_ENST00000401445.2_Intron|CEACAM21_ENST00000482870.2_Intron			Q3KPI0	CEA21_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 21	0						integral to membrane				endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	13						ACACTTTCTGTTGGTCACTCT	0.512													C	42085687	T	C	42085687	2	2	364	1	0	0	0	0	0	0	0	1	3222	1740	60	3		3	CEACAM21	19	42085687	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1993	42085687	17043296	13698	37200											
CEACAM7	1087	broad.mit.edu	37	chr19	42187995	42187995	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagggcttgggtggctccgCtgtgcagataagagagagaa	10	7	18	6	1	0	3	0	0	0	3	1	6	1	4	1	4	1	4	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42187995C>T	ENST00000006724.3	-	3	629		c.e3-1		CEACAM7_ENST00000599715.1_Splice_Site|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000401731.1_Splice_Site|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7							anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		GGTGGCTCCGCTGTGCAGATA	0.512													T	42187995	C	T	42187995	5	4	364	1	0	0	0	0	0	0	1	0	3227	811	28	2	378	2	CEACAM7	19	42187995	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102308	42187995	16940988	13699	37201											
CEACAM5	1048	broad.mit.edu	37	chr19	42213702	42213702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcttctacttgtccaCaatctgccccagcatctttt	7	14	7	13	0	3	0	0	0	3	0	4	1	4	0	3	1	4	2	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42213702C>T	ENST00000221992.6	+	2	282	c.168C>T	c.(166-168)caC>caT	p.H56H	CEA_ENST00000598976.1_Silent_p.H56H|CEACAM5_ENST00000398599.4_Silent_p.H56H|CEACAM5_ENST00000405816.1_Silent_p.H56H	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	56	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TACTTGTCCACAATCTGCCCC	0.483													T	42213702	C	T	42213702	2	4	364	1	0	0	0	0	0	0	0	1	3225	477	17	2		2	CEACAM5	19	42213702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25707	42213702	16915281	13700	37202											
CEACAM5	1048	broad.mit.edu	37	chr19	42219608	42219608	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttcccctctaaacacatCttacagatcaggggaaaatc	14	10	5	12	0	3	1	1	0	2	1	5	2	4	2	2	2	2	0	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42219608C>A	ENST00000221992.6	+	4	857	c.743C>A	c.(742-744)tCt>tAt	p.S248Y	CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Missense_Mutation_p.S248Y|CEACAM5_ENST00000405816.1_Missense_Mutation_p.S248Y	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	248	Ig-like 3.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CTAAACACATCTTACAGATCA	0.507													A	42219608	C	A	42219608	3	1	364	1	0	0	0	0	1	0	0	0	3225	913	32	4	757	4	CEACAM5	19	42219608	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5906	42219608	16909375	13701	37203											
LYPD4	147719	broad.mit.edu	37	chr19	42341267	42341267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacaccccaagcaggatCttgcctggaggatgctgcac	10	6	12	13	1	1	0	0	0	1	0	1	5	1	3	3	3	4	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42341267C>A	ENST00000330743.3	-	5	1902	c.691G>T	c.(691-693)Gat>Tat	p.D231Y	LYPD4_ENST00000601246.1_Missense_Mutation_p.D196Y|LYPD4_ENST00000343055.4_Missense_Mutation_p.D196Y	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	231						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						CAAGCAGGATCTTGCCTGGAG	0.478													A	42341267	C	A	42341267	3	1	364	1	0	0	0	0	1	0	0	0	9183	913	32	4	53	4	LYPD4	19	42341267	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121659	42341267	16787716	13702	37204											
RPS19	6223	broad.mit.edu	37	chr19	42365246	42365246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaagcacaaagagcttgCtccctacgatgagaactggt	12	7	11	11	1	0	2	0	1	0	2	1	4	1	2	2	2	5	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42365246C>A	ENST00000598742.1	+	3	509	c.137C>A	c.(136-138)gCt>gAt	p.A46D	RPS19_ENST00000221975.2_5'UTR|RPS19_ENST00000593863.1_Missense_Mutation_p.A46D	NM_001022.3	NP_001013.1	P39019	RS19_HUMAN	ribosomal protein S19	46					endocrine pancreas development|erythrocyte differentiation|gas transport|positive regulation of cellular component movement|response to extracellular stimulus|ribosomal small subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	protein binding|RNA binding|structural constituent of ribosome			endometrium(1)|lung(1)|upper_aerodigestive_tract(1)	3						AAAGAGCTTGCTCCCTACGAT	0.537									Diamond-Blackfan Anemia				A	42365246	C	A	42365246	3	1	364	1	0	0	0	0	1	0	0	0	13720	797	28	4	143	4	RPS19	19	42365246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23979	42365246	16763737	13703	37205											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396804	42396804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcggctcatgggcatgacGccctgggagcaggagctggc	8	5	17	11	2	1	1	1	1	0	0	1	3	1	3	1	5	3	4	1	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396804G>A	ENST00000599846.1	+	7	623	c.498G>A	c.(496-498)acG>acA	p.T166T	ARHGEF1_ENST00000347545.4_Silent_p.T133T|ARHGEF1_ENST00000337665.4_Silent_p.T181T|ARHGEF1_ENST00000378152.4_Silent_p.T148T|ARHGEF1_ENST00000354532.3_Silent_p.T166T			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	166	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		TGGGCATGACGCCCTGGGAGC	0.697													A	42396804	G	A	42396804	2	1	364	1	0	0	0	0	0	0	0	1	896	1074	38	1		1	ARHGEF1	19	42396804	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31558	42396804	16732179	13704	37206											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396878	42396878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctacgaggcccgggagcGgcacgtggcggagcggctgc	6	3	19	13	6	0	0	0	0	0	0	0	3	0	2	1	6	5	3	1	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42396878G>A	ENST00000599846.1	+	7	697	c.572G>A	c.(571-573)cGg>cAg	p.R191Q	ARHGEF1_ENST00000347545.4_Missense_Mutation_p.R158Q|ARHGEF1_ENST00000337665.4_Missense_Mutation_p.R206Q|ARHGEF1_ENST00000378152.4_Missense_Mutation_p.R173Q|ARHGEF1_ENST00000354532.3_Missense_Mutation_p.R191Q			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	191	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GCCCGGGAGCGGCACGTGGCG	0.706													A	42396878	G	A	42396878	3	1	364	1	0	0	0	0	1	0	0	0	896	1116	39	1	643	1	ARHGEF1	19	42396878	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	74	42396878	16732105	13705	37207											
ATP1A3	478	broad.mit.edu	37	chr19	42489540	42489540	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagtcgggagagcgagtctgGggctcggattcgccagtcag	7	7	17	10	4	2	1	1	0	1	1	5	4	2	2	1	4	1	1	1	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42489540G>T	ENST00000545399.1	-	7	834	c.681C>A	c.(679-681)ccC>ccA	p.P227P	ATP1A3_ENST00000302102.5_Silent_p.P214P|ATP1A3_ENST00000543770.1_Silent_p.P225P|ATP1A3_ENST00000602133.1_Silent_p.P184P	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	214					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						AGCGAGTCTGGGGCTCGGATT	0.592													T	42489540	G	T	42489540	2	4	364	1	0	0	0	0	0	0	0	1	1135	1219	43	4		4	ATP1A3	19	42489540	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92662	42489540	16639443	13706	37208											
GRIK5	2901	broad.mit.edu	37	chr19	42546742	42546742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgcccgtccaggagcCgttgggctcgggcgccccgt	5	6	14	16	5	0	0	0	0	0	0	2	1	1	1	6	3	3	2	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42546742C>T	ENST00000262895.3	-	11	1434	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S	GRIK5_ENST00000593562.1_Missense_Mutation_p.G479S|GRIK5_ENST00000301218.4_Missense_Mutation_p.G479S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	479						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	GTCCAGGAGCCGTTGGGCTCG	0.692													T	42546742	C	T	42546742	3	4	364	1	0	0	0	0	1	0	0	0	6832	652	23	1	1543	1	GRIK5	19	42546742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57202	42546742	16582241	13707	37209											
GRIK5	2901	broad.mit.edu	37	chr19	42557982	42557982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtctgctcacctcacGgtggccctgccgggactttt	3	11	12	15	2	3	0	2	0	1	0	3	1	3	1	4	4	2	1	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42557982G>A	ENST00000262895.3	-	9	1155	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	GRIK5_ENST00000593562.1_Missense_Mutation_p.R386C|GRIK5_ENST00000301218.4_Missense_Mutation_p.R386C	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	386						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	CTCACCTCACGGTGGCCCTGC	0.647													A	42557982	G	A	42557982	3	1	364	1	0	0	0	0	1	0	0	0	6832	1116	39	1	1830	1	GRIK5	19	42557982	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11240	42557982	16571001	13708	37210											
ZNF574	64763	broad.mit.edu	37	chr19	42584573	42584573	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taccatcacacaggtgaataCccctacaagtgtcgcgagtg	12	8	9	12	2	1	1	1	1	0	0	2	2	1	1	3	1	3	0	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42584573C>A	ENST00000600245.1	+	2	2470	c.1815C>A	c.(1813-1815)taC>taA	p.Y605*	ZNF574_ENST00000359044.4_Nonsense_Mutation_p.Y605*|ZNF574_ENST00000222339.7_Nonsense_Mutation_p.Y695*			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				CAGGTGAATACCCCTACAAGT	0.647													A	42584573	C	A	42584573	4	1	364	1	0	0	0	0	0	1	0	0	18107	518	18	4	1817	4	ZNF574	19	42584573	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26591	42584573	16544410	13709	37211											
ZNF574	64763	broad.mit.edu	37	chr19	42585217	42585217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcatccacacaggcgaacGaccctactcctgccctgact	9	6	7	19	3	0	1	0	1	0	0	2	3	2	1	5	1	3	1	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42585217G>A	ENST00000600245.1	+	2	3114	c.2459G>A	c.(2458-2460)cGa>cAa	p.R820Q	ZNF574_ENST00000359044.4_Missense_Mutation_p.R820Q|ZNF574_ENST00000222339.7_Missense_Mutation_p.R910Q			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	820					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				ACAGGCGAACGACCCTACTCC	0.612													A	42585217	G	A	42585217	3	1	364	1	0	0	0	0	1	0	0	0	18107	1058	37	1	2461	1	ZNF574	19	42585217	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644	42585217	16543766	13710	37212											
ZNF526	116115	broad.mit.edu	37	chr19	42730536	42730536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggggccagtgaagcaggcGggctcttgcagttggacacg	7	7	18	9	2	1	1	0	1	1	0	1	2	1	2	1	5	2	4	1	5	1	2	rs143303371	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42730536G>A	ENST00000301215.3	+	3	2206	c.1981G>A	c.(1981-1983)Ggg>Agg	p.G661R		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				TGAAGCAGGCGGGCTCTTGCA	0.602													A	42730536	G	A	42730536	3	1	364	1	0	0	0	0	1	0	0	0	18068	1116	39	1	1983	1	ZNF526	19	42730536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145319	42730536	16398447	13711	37213											
CIC	23152	broad.mit.edu	37	chr19	42797203	42797203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccatcgccagcattcccGtggggtcctttgaggcaggt	6	9	13	13	2	0	1	0	1	0	0	3	1	2	1	4	4	2	2	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797203G>A	ENST00000572681.2	+	16	6354	c.6286G>A	c.(6286-6288)Gtg>Atg	p.V2096M	CIC_ENST00000575354.2_Missense_Mutation_p.V1189M|CIC_ENST00000160740.3_Missense_Mutation_p.V1187M			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1189					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1189L(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCATTCCCGTGGGGTCCTT	0.672			"Mis, F, S"		oligodendroglioma								A	42797203	G	A	42797203	3	1	364	1	0	0	0	0	1	0	0	0	3454	1145	40	1	3623	1	CIC	19	42797203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66667	42797203	16331780	13712	37214											
CIC	23152	broad.mit.edu	37	chr19	42797910	42797910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccggggacaccccggagcGcaaggaggcggctggtactg	8	3	18	12	4	0	0	0	0	0	0	0	3	0	3	3	7	3	3	3	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42797910G>A	ENST00000572681.2	+	17	6751	c.6683G>A	c.(6682-6684)cGc>cAc	p.R2228H	CIC_ENST00000575354.2_Missense_Mutation_p.R1321H|CIC_ENST00000160740.3_Missense_Mutation_p.R1319H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1321					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCCCGGAGCGCAAGGAGGCG	0.687			"Mis, F, S"		oligodendroglioma								A	42797910	G	A	42797910	3	1	364	1	0	0	0	0	1	0	0	0	3454	1087	38	1	4024	1	CIC	19	42797910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	707	42797910	16331073	13713	37215											
PRR19	284338	broad.mit.edu	37	chr19	42813973	42813973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggggtctcttcaaccaCgaggtgaaatccctagatgt	10	9	10	12	2	2	2	1	1	1	1	4	3	3	2	3	3	1	0	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42813973C>T	ENST00000499536.2	+	1	1048	c.237C>T	c.(235-237)caC>caT	p.H79H	PRR19_ENST00000341747.3_Silent_p.H79H|PRR19_ENST00000598490.1_Silent_p.H79H			A6NJB7	PRR19_HUMAN	proline rich 19	79										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TCTTCAACCACGAGGTGAAAT	0.647													T	42813973	C	T	42813973	2	4	364	1	0	0	0	0	0	0	0	1	12677	535	19	1		1	PRR19	19	42813973	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16063	42813973	16315010	13714	37216											
TMEM145	284339	broad.mit.edu	37	chr19	42827796	42827796	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgcgcacgtcgcagaTcgcttcagccggagtccctg	6	7	12	16	6	1	1	1	0	0	1	4	2	2	2	3	1	2	3	3	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42827796T>C	ENST00000301204.3	+	14	1297	c.1256T>C	c.(1255-1257)aTc>aCc	p.I419T		NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	419						integral to membrane				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ACGTCGCAGATCGCTTCAGCC	0.627													C	42827796	T	C	42827796	3	2	364	1	0	0	0	0	1	0	0	0	16159	1435	50	3	1310	3	TMEM145	19	42827796	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13823	42827796	16301187	13715	37217											
MEGF8	1954	broad.mit.edu	37	chr19	42838210	42838210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacctgctgggctttaacGcctcattccgcttctccctg	6	12	7	16	2	2	0	1	0	1	0	4	0	3	0	4	1	3	3	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42838210G>A	ENST00000334370.4	+	3	1038	c.403G>A	c.(403-405)Gcc>Acc	p.A135T	MEGF8_ENST00000251268.6_Missense_Mutation_p.A135T	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	135	CUB 1.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GGGCTTTAACGCCTCATTCCG	0.652													A	42838210	G	A	42838210	3	1	364	1	0	0	0	0	1	0	0	0	9538	1087	38	1	413	1	MEGF8	19	42838210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10414	42838210	16290773	13716	37218											
MEGF8	1954	broad.mit.edu	37	chr19	42840958	42840958	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgcttctccttcggtaGgttctctgtgcgagtgaact	4	14	11	12	2	2	1	0	1	2	0	5	2	2	1	2	2	3	3	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42840958G>T	ENST00000334370.4	+	7	1879		c.e7-1		MEGF8_ENST00000251268.6_Splice_Site	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8							integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				TCCTTCGGTAGGTTCTCTGTG	0.617													T	42840958	G	T	42840958	5	4	364	1	0	0	0	0	0	0	1	0	9538	1014	35	4	1270	4	MEGF8	19	42840958	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2748	42840958	16288025	13717	37219											
MEGF8	1954	broad.mit.edu	37	chr19	42866664	42866664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcttctgggcagggaactgCtccgaggctgcgtgcggggc	4	8	18	11	3	2	0	0	0	2	0	3	2	3	1	1	5	4	3	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42866664C>T	ENST00000334370.4	+	33	6407	c.5772C>T	c.(5770-5772)tgC>tgT	p.C1924C	MEGF8_ENST00000251268.6_Silent_p.C1991C	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1991	PSI 5.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				CAGGGAACTGCTCCGAGGCTG	0.627													T	42866664	C	T	42866664	2	4	364	1	0	0	0	0	0	0	0	1	9538	805	28	2		2	MEGF8	19	42866664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25706	42866664	16262319	13718	37220											
LIPE	3991	broad.mit.edu	37	chr19	42906780	42906780	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgatgtgcacaggtggcagGctcttgagcatgctgtcggg	7	9	16	9	2	1	1	0	1	1	0	2	2	1	1	0	4	3	5	0	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:42906780G>A	ENST00000244289.4	-	9	3222	c.2946C>T	c.(2944-2946)agC>agT	p.S982S	LIPE-AS1_ENST00000599276.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000597203.1_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	982					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CAGGTGGCAGGCTCTTGAGCA	0.642													A	42906780	G	A	42906780	2	1	364	1	0	0	0	0	0	0	0	1	8882	1194	42	2		2	LIPE	19	42906780	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40116	42906780	16222203	13719	37221											
CEACAM8	1088	broad.mit.edu	37	chr19	43093759	43093759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcctgggactgaccgggaGactctgaccatttacccacc	9	7	10	15	1	1	3	0	2	1	1	1	5	1	4	5	2	2	0	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43093759G>A	ENST00000244336.5	-	3	654	c.553C>T	c.(553-555)Ctc>Ttc	p.L185F	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	185	Ig-like C2-type 1.				immune response	anchored to membrane|extracellular space|integral to plasma membrane		p.L185I(1)		endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CTGACCGGGAGACTCTGACCA	0.527													A	43093759	G	A	43093759	3	1	364	1	0	0	0	0	1	0	0	0	3228	942	33	2	508	2	CEACAM8	19	43093759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186979	43093759	16035224	13720	37222											
CEACAM8	1088	broad.mit.edu	37	chr19	43097933	43097933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaccagttgtagccacgagGgtcctggggcagattgtgga	8	9	16	8	1	0	1	0	0	0	1	1	3	1	2	3	4	2	4	3	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43097933G>T	ENST00000244336.5	-	2	285	c.184C>A	c.(184-186)Cct>Act	p.P62T	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Intron	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	62	Ig-like V-type.				immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				TAGCCACGAGGGTCCTGGGGC	0.507													T	43097933	G	T	43097933	3	4	364	1	0	0	0	0	1	0	0	0	3228	1232	43	4	881	4	CEACAM8	19	43097933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4174	43097933	16031050	13721	37223											
PSG3	5671	broad.mit.edu	37	chr19	43233277	43233277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgctgggatccacttaccaGagactttgactgtcatggat	10	12	10	9	0	1	2	1	1	0	1	2	5	2	4	2	2	2	1	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43233277G>A	ENST00000327495.5	-	5	1425	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F	PSG3_ENST00000595140.1_Missense_Mutation_p.S414F	NM_021016.3	NP_066296.2	Q16557	PSG3_HUMAN	pregnancy specific beta-1-glycoprotein 3	414					defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	36		Prostate(69;0.00682)				CCACTTACCAGAGACTTTGAC	0.468													A	43233277	G	A	43233277	3	1	364	1	0	0	0	0	1	0	0	0	12741	942	33	2	53	2	PSG3	19	43233277	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135344	43233277	15895706	13722	37224											
PSG7	5676	broad.mit.edu	37	chr19	43439811	43439811	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggccagtaagattctgggGcaaattgtggacaagtagaa	13	9	14	5	0	1	2	0	0	1	2	1	3	1	3	1	4	0	3	1	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43439811G>A	ENST00000446844.3	-	0	264				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				AGATTCTGGGGCAAATTGTGG	0.448													A	43439811	G	A	43439811	1	1	364	0	1	0	0	0	0	0	0	0	12745	1203	42	2		2	PSG7	19	43439811	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206534	43439811	15689172	13723	37225											
PSG11	5680	broad.mit.edu	37	chr19	43529131	43529131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtagaagaacatccttccCctcggacactttgggtggct	10	10	10	11	1	0	2	0	0	0	2	3	3	2	3	3	3	1	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43529131C>A	ENST00000401740.1	-	2	245	c.142G>T	c.(142-144)Ggg>Tgg	p.G48W	PSG11_ENST00000320078.7_Missense_Mutation_p.G48W|PSG11_ENST00000306322.7_Intron|PSG11_ENST00000403486.1_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	48	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				ACATCCTTCCCCTCGGACACT	0.473													A	43529131	C	A	43529131	3	1	364	1	0	0	0	0	1	0	0	0	12739	623	22	4	881	4	PSG11	19	43529131	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89320	43529131	15599852	13724	37226											
PSG4	5672	broad.mit.edu	37	chr19	43708105	43708105	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgctttatgatgtgtaaGgtgtaggatcctgcatcctc	7	14	11	9	2	0	1	0	1	0	0	4	2	2	2	2	2	1	4	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43708105G>T	ENST00000405312.3	-	2	600	c.363C>A	c.(361-363)acC>acA	p.T121T	PSG4_ENST00000244295.9_Silent_p.T121T|PSG4_ENST00000433626.2_Silent_p.T121T	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	121	Ig-like V-type.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				TGATGTGTAAGGTGTAGGATC	0.483													T	43708105	G	T	43708105	2	4	364	1	0	0	0	0	0	0	0	1	12742	987	35	4		4	PSG4	19	43708105	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	178974	43708105	15420878	13725	37227											
PSG9	5678	broad.mit.edu	37	chr19	43757796	43757796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtcaggtctccatggcaggGacctgattgacagaaggccc	9	8	13	11	0	2	3	1	2	1	1	3	4	2	4	3	4	0	1	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43757796G>A	ENST00000270077.3	-	6	1342	c.1246C>T	c.(1246-1248)Ccc>Tcc	p.P416S	PSG9_ENST00000593948.1_Missense_Mutation_p.P323S|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Missense_Mutation_p.P230S|PSG9_ENST00000443718.3_Missense_Mutation_p.P323S	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	416					female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				ccatggcagggacctgattga	0.463													A	43757796	G	A	43757796	3	1	364	1	0	0	0	0	1	0	0	0	12747	1174	41	2	38	2	PSG9	19	43757796	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49691	43757796	15371187	13726	37228											
CD177	57126	broad.mit.edu	37	chr19	43864431	43864431	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccagattttctgacctgtCatcgggggaccaccattatg	8	11	9	13	1	2	2	1	1	1	1	3	3	2	3	5	2	0	0	5	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:43864431C>T	ENST00000378009.4	+	0	795				CD177_ENST00000607517.1_RNA	NM_020406.2	NP_065139.2	Q8N6Q3	CD177_HUMAN	CD177 molecule						blood coagulation|leukocyte migration	anchored to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5		Prostate(69;0.00682)				TCTGACCTGTCATCGGGGGAC	0.552													T	43864431	C	T	43864431	1	4	364	0	1	0	0	0	0	0	0	0	3001	826	29	2		2	CD177	19	43864431	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106635	43864431	15264552	13727	37229											
IRGQ	126298	broad.mit.edu	37	chr19	44096855	44096855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctgatttcttcatgcCgacaacctgctgcaaaccct	10	10	5	16	1	2	1	1	1	1	0	2	2	2	1	5	0	5	2	5	0	2	2	rs111946192		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44096855C>T	ENST00000422989.1	-	3	1350	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	IRGQ_ENST00000601520.1_Intron|IRGQ_ENST00000602269.1_Missense_Mutation_p.G399S|L34079.2_ENST00000594374.1_Intron	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	399							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				TTCTTCATGCCGACAACCTGC	0.622													T	44096855	C	T	44096855	3	4	364	1	0	0	0	0	1	0	0	0	7897	652	23	1	680	1	IRGQ	19	44096855	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	232424	44096855	15032128	13728	37230											
IRGQ	126298	broad.mit.edu	37	chr19	44097296	44097296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggaccgaagcaggcgcagCgcctgggtcgccaggatcca	8	3	17	13	4	0	0	0	0	0	0	2	3	1	2	4	5	2	2	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097296C>T	ENST00000422989.1	-	3	909	c.754G>A	c.(754-756)Gct>Act	p.A252T	IRGQ_ENST00000602269.1_Missense_Mutation_p.A252T	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	252							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				GCAGGCGCAGCGCCTGGGTCG	0.692													T	44097296	C	T	44097296	3	4	364	1	0	0	0	0	1	0	0	0	7897	768	27	1	1121	1	IRGQ	19	44097296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	441	44097296	15031687	13729	37231											
IRGQ	126298	broad.mit.edu	37	chr19	44097491	44097491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgctgcacccaacacctCgaagccatcctgcgccggtg	7	7	9	18	3	1	0	0	0	1	0	3	1	2	0	5	1	5	2	5	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44097491C>T	ENST00000422989.1	-	3	714	c.559G>A	c.(559-561)Gag>Aag	p.E187K	IRGQ_ENST00000602269.1_Missense_Mutation_p.E187K	NM_001007561.2	NP_001007562.1	Q8WZA9	IRGQ_HUMAN	immunity-related GTPase family, Q	187							protein binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(3)	18		Prostate(69;0.0199)				CCCAACACCTCGAAGCCATCC	0.637													T	44097491	C	T	44097491	3	4	364	1	0	0	0	0	1	0	0	0	7897	893	31	1	1316	1	IRGQ	19	44097491	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	195	44097491	15031492	13730	37232											
KCNN4	3783	broad.mit.edu	37	chr19	44273958	44273958	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggccaccacggccacCagcagggctgtgcagcagac	8	4	13	16	2	0	1	0	0	0	1	1	1	1	1	5	3	3	4	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44273958C>A	ENST00000262888.3	-	5	1238	c.843G>T	c.(841-843)ctG>ctT	p.L281L		NM_002250.2	NP_002241.1	O15554	KCNN4_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 4	281					defense response	voltage-gated potassium channel complex	calcium-activated potassium channel activity|calmodulin binding			biliary_tract(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	15		Prostate(69;0.0352)			Clotrimazole(DB00257)|Halothane(DB01159)|Quinine(DB00468)	CCACGGCCACCAGCAGGGCTG	0.592													A	44273958	C	A	44273958	2	1	364	1	0	0	0	0	0	0	0	1	8139	581	21	4		4	KCNN4	19	44273958	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176467	44273958	14855025	13731	37233											
ZNF283	284349	broad.mit.edu	37	chr19	44339668	44339668	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccagttctggcttttCtggattctgtgcttcaccaa	5	15	7	14	0	4	0	1	0	3	0	5	1	5	1	4	2	1	3	4	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44339668C>A	ENST00000324461.7	+	5	431	c.134C>A	c.(133-135)tCt>tAt	p.S45Y	ZNF283_ENST00000593268.1_Missense_Mutation_p.S45Y|ZNF283_ENST00000593164.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000588797.1_5'UTR|ZNF283_ENST00000310738.8_Missense_Mutation_p.S9Y|ZNF283_ENST00000590950.1_Missense_Mutation_p.S20Y|ZNF283_ENST00000586976.1_3'UTR	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	45					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				TCTGGCTTTTCTGGATTCTGT	0.428													A	44339668	C	A	44339668	3	1	364	1	0	0	0	0	1	0	0	0	17921	913	32	4	140	4	ZNF283	19	44339668	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65710	44339668	14789315	13732	37234											
ZNF45	7596	broad.mit.edu	37	chr19	44419006	44419006	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcattatcacatttttcAcatttgtagggcttctctcc	9	16	6	10	0	3	0	2	0	1	0	5	0	4	0	1	2	0	3	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44419006A>G	ENST00000269973.5	-	10	1672	c.582T>C	c.(580-582)tgT>tgC	p.C194C	ZNF45_ENST00000589703.1_Silent_p.C194C|RP11-15A1.2_ENST00000586247.1_RNA	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	194					multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						CACATTTTTCACATTTGTAGG	0.413													G	44419006	A	G	44419006	2	3	364	1	0	0	0	0	0	0	0	1	18022	157	6	3		3	ZNF45	19	44419006	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	79338	44419006	14709977	13733	37235											
ZNF221	7638	broad.mit.edu	37	chr19	44471408	44471408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacatcagagactccacaGtggagaaaagccattgaaat	18	6	9	8	0	1	3	1	1	0	2	2	6	2	3	2	1	2	0	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44471408G>T	ENST00000251269.5	+	6	2082	c.1754G>T	c.(1753-1755)aGt>aTt	p.S585I	ZNF221_ENST00000587682.1_Missense_Mutation_p.S585I|ZNF221_ENST00000592350.1_Missense_Mutation_p.S585I	NM_013359.2	NP_037491	Q9UK13	ZN221_HUMAN	zinc finger protein 221	585					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(11)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	30		Prostate(69;0.0352)				AGACTCCACAGTGGAGAAAAG	0.448													T	44471408	G	T	44471408	3	4	364	1	0	0	0	0	1	0	0	0	17876	1029	36	4	1768	4	ZNF221	19	44471408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52402	44471408	14657575	13734	37236											
ZNF155	7711	broad.mit.edu	37	chr19	44495784	44495784	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagaggaagctgtacCgagatgtgatgctggagaac	11	7	14	9	1	0	4	0	1	0	3	0	7	0	5	2	2	5	3	2	2	3	1	rs141510834	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44495784C>T	ENST00000270014.2	+	3	228	c.100C>T	c.(100-102)Cga>Tga	p.R34*	ZNF155_ENST00000407951.2_Nonsense_Mutation_p.R45*|ZNF155_ENST00000590615.1_Nonsense_Mutation_p.R34*	NM_001260487.1|NM_198089.2	NP_001247416|NP_932355	Q12901	ZN155_HUMAN	zinc finger protein 155	34	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	15		Prostate(69;0.0352)				GAAGCTGTACCGAGATGTGAT	0.542													T	44495784	C	T	44495784	4	4	364	1	0	0	0	0	0	1	0	0	17837	644	23	1	106	1	ZNF155	19	44495784	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24376	44495784	14633199	13735	37237											
ZNF230	7773	broad.mit.edu	37	chr19	44515547	44515547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcatccaaatgtgaggaCtgtgggaagcgctacaagag	14	7	12	8	1	1	2	1	1	0	1	2	4	2	4	1	2	3	1	1	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44515547C>A	ENST00000429154.2	+	5	1584	c.1356C>A	c.(1354-1356)gaC>gaA	p.D452E		NM_006300.3	NP_006291.2	Q9UIE0	ZN230_HUMAN	zinc finger protein 230	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)|stomach(3)|urinary_tract(2)	22		Prostate(69;0.0352)				AATGTGAGGACTGTGGGAAGC	0.378													A	44515547	C	A	44515547	3	1	364	1	0	0	0	0	1	0	0	0	17885	564	20	4	1370	4	ZNF230	19	44515547	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19763	44515547	14613436	13736	37238											
ZNF223	7766	broad.mit.edu	37	chr19	44531552	44531552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttgcctgttcacagggCatcaaccattccatggagat	10	11	9	11	0	2	1	2	0	0	1	3	3	3	1	3	2	2	2	3	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44531552C>T	ENST00000591793.1	+	3	255	c.172C>T	c.(172-174)Cat>Tat	p.H58Y	ZNF222_ENST00000590160.1_3'UTR|ZNF222_ENST00000391960.3_Missense_Mutation_p.H58Y|ZNF222_ENST00000587846.1_Missense_Mutation_p.H58Y|ZNF222_ENST00000187879.8_Intron			Q9UK11	ZN223_HUMAN	zinc finger protein 223	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				GTTCACAGGGCATCAACCATT	0.423													T	44531552	C	T	44531552	3	4	364	1	0	0	0	0	1	0	0	0	17878	710	25	2		2	ZNF223	19	44531552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16005	44531552	14597431	13737	37239											
ZNF222	7673	broad.mit.edu	37	chr19	44536092	44536092	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctcaagataccaccataAgtaactctcagttatttgaa	14	12	6	9	0	2	2	2	1	2	1	4	2	2	2	2	1	2	2	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44536092A>T	ENST00000187879.8	+	4	427	c.265A>T	c.(265-267)Agt>Tgt	p.S89C	ZNF222_ENST00000391960.3_Missense_Mutation_p.S129C|ZNF223_ENST00000591793.1_Intron	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	89					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TACCACCATAAGTAACTCTCA	0.403													T	44536092	A	T	44536092	3	4	364	1	0	0	0	0	1	0	0	0	17877	72	3	5	418	5	ZNF222	19	44536092	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4540	44536092	14592891	13738	37240											
ZNF234	10780	broad.mit.edu	37	chr19	44661185	44661185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccatcaaagggtccacaCaggagagaaaccttacaagt	16	7	8	10	0	1	1	1	0	0	1	3	3	3	2	3	2	2	0	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661185C>T	ENST00000426739.2	+	6	1274	c.1016C>T	c.(1015-1017)aCa>aTa	p.T339I	ZNF234_ENST00000592437.1_Missense_Mutation_p.T339I	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AGGGTCCACACAGGAGAGAAA	0.448													T	44661185	C	T	44661185	3	4	364	1	0	0	0	0	1	0	0	0	17888	478	17	2	1030	2	ZNF234	19	44661185	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125093	44661185	14467798	13739	37241											
ZNF234	10780	broad.mit.edu	37	chr19	44661371	44661371	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactggagagaagccatacaAatgcaatgagtgtgggaaga	16	6	13	6	0	0	3	0	1	0	2	0	6	0	5	1	2	3	1	1	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661371A>G	ENST00000426739.2	+	6	1460	c.1202A>G	c.(1201-1203)aAa>aGa	p.K401R	ZNF234_ENST00000592437.1_Missense_Mutation_p.K401R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	401					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				AAGCCATACAAATGCAATGAG	0.423													G	44661371	A	G	44661371	3	3	364	1	0	0	0	0	1	0	0	0	17888	14	1	3	1216	3	ZNF234	19	44661371	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	186	44661371	14467612	13740	37242											
ZNF234	10780	broad.mit.edu	37	chr19	44661424	44661424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcattatcaagtgcatCtggtagtccacacaggggaa	14	10	9	8	0	3	0	2	0	1	0	4	1	4	1	1	3	1	2	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44661424C>A	ENST00000426739.2	+	6	1513	c.1255C>A	c.(1255-1257)Ctg>Atg	p.L419M	ZNF234_ENST00000592437.1_Missense_Mutation_p.L419M	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	419					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				TCAAGTGCATCTGGTAGTCCA	0.418													A	44661424	C	A	44661424	3	1	364	1	0	0	0	0	1	0	0	0	17888	912	32	4	1269	4	ZNF234	19	44661424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	44661424	14467559	13741	37243											
ZNF226	7769	broad.mit.edu	37	chr19	44679883	44679883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaataaagcagatggtccCaataatactgggaatccaga	17	8	9	7	0	0	2	0	0	0	2	2	3	2	3	2	2	2	2	2	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44679883C>T	ENST00000590089.1	+	7	835	c.468C>T	c.(466-468)ccC>ccT	p.P156P	ZNF226_ENST00000337433.5_Silent_p.P156P|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Silent_p.P156P			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	156					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				CAGATGGTCCCAATAATACTG	0.398													T	44679883	C	T	44679883	2	4	364	1	0	0	0	0	0	0	0	1	17881	581	21	2		2	ZNF226	19	44679883	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18459	44679883	14449100	13742	37244											
ZNF226	7769	broad.mit.edu	37	chr19	44680813	44680813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtcttcaggcccatcaGggagttcacactggagagaa	12	8	11	10	0	5	1	4	0	1	1	5	4	5	3	1	3	0	1	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44680813G>T	ENST00000590089.1	+	7	1765	c.1398G>T	c.(1396-1398)caG>caT	p.Q466H	ZNF226_ENST00000337433.5_Missense_Mutation_p.Q466H|ZNF226_ENST00000588883.1_3'UTR|ZNF226_ENST00000454662.2_Missense_Mutation_p.Q466H			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				AGGCCCATCAGGGAGTTCACA	0.443													T	44680813	G	T	44680813	3	4	364	1	0	0	0	0	1	0	0	0	17881	991	35	4	1466	4	ZNF226	19	44680813	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	930	44680813	14448170	13743	37245											
ZNF235	9310	broad.mit.edu	37	chr19	44793311	44793311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaagcaccttaatcctgCtttgtgaagagttgccatct	11	13	8	9	0	1	3	0	2	1	1	2	3	2	3	3	0	3	3	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44793311C>A	ENST00000291182.4	-	5	379	c.277G>T	c.(277-279)Gca>Tca	p.A93S	ZNF235_ENST00000589799.1_Intron|ZNF235_ENST00000589248.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	93					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CTTAATCCTGCTTTGTGAAGA	0.403													A	44793311	C	A	44793311	3	1	364	1	0	0	0	0	1	0	0	0	17889	797	28	4	1943	4	ZNF235	19	44793311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112498	44793311	14335672	13744	37246											
ZNF235	9310	broad.mit.edu	37	chr19	44803800	44803800	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttctccagcatcacatctCggtacagcttcctctgggca	8	11	8	14	1	4	0	1	0	3	0	7	0	5	0	2	2	3	5	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44803800C>T	ENST00000291182.4	-	3	203	c.101G>A	c.(100-102)cGa>cAa	p.R34Q	ZNF235_ENST00000589799.1_Missense_Mutation_p.R34Q|ZNF235_ENST00000589248.1_Missense_Mutation_p.R34Q	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	34	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				CATCACATCTCGGTACAGCTT	0.527													T	44803800	C	T	44803800	3	4	364	1	0	0	0	0	1	0	0	0	17889	884	31	1	2127	1	ZNF235	19	44803800	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10489	44803800	14325183	13745	37247											
ZNF285	26974	broad.mit.edu	37	chr19	44891167	44891167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagtggacttgaagaaCggagcttgaactaaagcact	13	8	10	10	1	0	3	0	2	0	1	1	5	1	5	2	2	4	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891167C>T	ENST00000330997.4	-	4	1304	c.1240G>A	c.(1240-1242)Gtt>Att	p.V414I	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.V414I|ZNF285_ENST00000591679.1_Missense_Mutation_p.V421I	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						ACTTGAAGAACGGAGCTTGAA	0.488													T	44891167	C	T	44891167	3	4	364	1	0	0	0	0	1	0	0	0	17923	536	19	1	536	1	ZNF285	19	44891167	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87367	44891167	14237816	13746	37248											
ZNF285	26974	broad.mit.edu	37	chr19	44891353	44891353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgacctaaatccaaaccCtttcccacattcatcgcatt	13	11	3	14	1	1	1	1	1	0	0	4	1	3	1	4	0	1	1	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44891353C>A	ENST00000330997.4	-	4	1118	c.1054G>T	c.(1054-1056)Ggg>Tgg	p.G352W	CTC-512J12.6_ENST00000588212.1_Intron|ZNF285_ENST00000544719.2_Missense_Mutation_p.G352W|ZNF285_ENST00000591679.1_Missense_Mutation_p.G359W	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATCCAAACCCTTTCCCACAT	0.478													A	44891353	C	A	44891353	3	1	364	1	0	0	0	0	1	0	0	0	17923	681	24	4	722	4	ZNF285	19	44891353	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186	44891353	14237630	13747	37249											
ZNF229	7772	broad.mit.edu	37	chr19	44933440	44933440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgtgaactctctggtgagCttgaaggtacgagttgtgac	9	12	13	7	1	1	4	0	4	1	0	2	5	1	4	0	2	3	3	0	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933440C>T	ENST00000291187.4	-	6	1820	c.1498G>A	c.(1498-1500)Gct>Act	p.A500T	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.A506T	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				CTCTGGTGAGCTTGAAGGTAC	0.512													T	44933440	C	T	44933440	3	4	364	1	0	0	0	0	1	0	0	0	17883	797	28	2	965	2	ZNF229	19	44933440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42087	44933440	14195543	13748	37250											
ZNF229	7772	broad.mit.edu	37	chr19	44933907	44933907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccacagacatcacatCtatagggcatgtctcccaca	11	10	5	15	0	3	1	1	0	2	1	5	1	4	1	3	1	0	1	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44933907C>A	ENST00000291187.4	-	6	1353	c.1031G>T	c.(1030-1032)aGa>aTa	p.R344I	CTC-512J12.4_ENST00000588655.1_RNA|ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R350I	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	350					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				GACATCACATCTATAGGGCAT	0.507													A	44933907	C	A	44933907	3	1	364	1	0	0	0	0	1	0	0	0	17883	913	32	4	1432	4	ZNF229	19	44933907	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	467	44933907	14195076	13749	37251											
ZNF180	7733	broad.mit.edu	37	chr19	44980826	44980826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccagtatgagttctCtgatgttgagtaaggcatga	9	15	10	7	0	2	4	0	4	2	0	5	4	3	4	1	1	0	5	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:44980826C>A	ENST00000221327.4	-	5	2153	c.1872G>T	c.(1870-1872)caG>caT	p.Q624H	ZNF180_ENST00000592529.1_Missense_Mutation_p.Q597H|ZNF180_ENST00000391956.4_Missense_Mutation_p.Q599H	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	624					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				TATGAGTTCTCTGATGTTGAG	0.403													A	44980826	C	A	44980826	3	1	364	1	0	0	0	0	1	0	0	0	17849	912	32	4	210	4	ZNF180	19	44980826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46919	44980826	14148157	13750	37252											
CEACAM16	388551	broad.mit.edu	37	chr19	45209106	45209106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaccaagaccctgctatCtggatctgcctcagtcgtgg	9	9	10	13	1	3	1	1	0	2	1	4	3	3	2	3	2	3	1	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45209106C>A	ENST00000587331.1	+	5	1123	c.908C>A	c.(907-909)tCt>tAt	p.S303Y	CEACAM16_ENST00000405314.2_Missense_Mutation_p.S303Y|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	303										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				ACCCTGCTATCTGGATCTGCC	0.587													A	45209106	C	A	45209106	3	1	364	1	0	0	0	0	1	0	0	0	3218	913	32	4	922	4	CEACAM16	19	45209106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	228280	45209106	13919877	13751	37253											
BCL3	602	broad.mit.edu	37	chr19	45262778	45262778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccaatttcttccttcCttccccatctccacccgcct	4	14	1	22	1	2	0	0	0	2	0	8	0	7	0	9	0	0	0	9	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45262778C>A	ENST00000164227.5	+	9	1515	c.1271C>A	c.(1270-1272)cCt>cAt	p.P424H		NM_005178.4	NP_005169.2	P20749	BCL3_HUMAN	B-cell CLL/lymphoma 3	424	Pro/Ser-rich.				DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|I-kappaB kinase/NF-kappaB cascade|maintenance of protein location in nucleus|negative regulation of apoptosis|negative regulation of interleukin-8 biosynthetic process|negative regulation of transcription, DNA-dependent|positive regulation of translation|protein import into nucleus, translocation|regulation of DNA binding|regulation of NF-kappaB import into nucleus|response to UV-C|response to virus	Bcl3-Bcl10 complex|Bcl3/NF-kappaB2 complex|nucleus|perinuclear region of cytoplasm	protein binding, bridging|transcription factor binding			kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	Lung NSC(12;0.000698)|all_lung(12;0.002)	Ovarian(192;0.0728)				TTCTTCCTTCCTTCCCCATCT	0.672			T	IGH@	CLL								A	45262778	C	A	45262778	3	1	364	1	0	0	0	0	1	0	0	0	1380	681	24	4	1305	4	BCL3	19	45262778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53672	45262778	13866205	13752	37254											
CBLC	23624	broad.mit.edu	37	chr19	45296783	45296783	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgagatcaagggctgggAggccgtgagtatctaccagt	9	8	15	9	2	2	2	1	1	1	1	2	4	2	3	2	3	2	2	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45296783A>T	ENST00000270279.3	+	8	1253	c.1190A>T	c.(1189-1191)gAg>gTg	p.E397V	CBLC_ENST00000341505.4_Missense_Mutation_p.E351V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	397					cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				AAGGGCTGGGAGGCCGTGAGT	0.637			M		AML								T	45296783	A	T	45296783	3	4	364	1	0	0	0	0	1	0	0	0	2728	304	11	5	1220	5	CBLC	19	45296783	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	34005	45296783	13832200	13753	37255											
BCAM	4059	broad.mit.edu	37	chr19	45322860	45322860	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcccccagacctcccaggCtggagtggccgtcatggccg	6	5	14	16	2	1	1	1	0	0	1	2	3	2	2	6	4	1	1	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45322860C>A	ENST00000589651.1	+	13	1694	c.1640C>A	c.(1639-1641)gCt>gAt	p.A547D	BCAM_ENST00000270233.6_Missense_Mutation_p.A547D			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)						cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				ACCTCCCAGGCTGGAGTGGCC	0.687													A	45322860	C	A	45322860	3	1	364	1	0	0	0	0	1	0	0	0	1349	797	28	4	1690	4	BCAM	19	45322860	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26077	45322860	13806123	13754	37256											
APOE	348	broad.mit.edu	37	chr19	45411875	45411875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggtggcggaggagacgCgggcacggctgtccaaggag	7	3	19	12	5	0	1	0	0	0	1	1	4	1	3	3	7	0	2	3	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45411875C>T	ENST00000252486.4	+	4	433	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	108	8 X 22 AA approximate tandem repeats.				anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GGAGGAGACGCGGGCACGGCT	0.687													T	45411875	C	T	45411875	3	4	364	1	0	0	0	0	1	0	0	0	805	759	27	1	332	1	APOE	19	45411875	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89015	45411875	13717108	13755	37257											
APOC4	346	broad.mit.edu	37	chr19	45445551	45445551	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaatgtccctcctcagaaAcaggctccaggccctgcctg	10	7	9	15	0	1	2	1	0	0	2	4	2	4	2	5	2	2	1	5	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45445551A>T	ENST00000419266.2	+	1	57	c.17A>T	c.(16-18)aAc>aTc	p.N6I	APOC4_ENST00000591600.1_Missense_Mutation_p.N6I|APOC4-APOC2_ENST00000589057.1_Missense_Mutation_p.N6I|APOC4_ENST00000592954.1_Missense_Mutation_p.N6I			P55056	APOC4_HUMAN	apolipoprotein C-IV						lipid metabolic process|positive regulation of sequestering of triglyceride|triglyceride homeostasis	high-density lipoprotein particle|very-low-density lipoprotein particle	lipid transporter activity			breast(1)|endometrium(1)|lung(2)	4	Lung NSC(12;0.00858)|all_lung(12;0.0197)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00334)|Epithelial(262;0.178)		CTCCTCAGAAACAGGCTCCAG	0.672													T	45445551	A	T	45445551	3	4	364	1	0	0	0	0	1	0	0	0	803	43	2	5	19	5	APOC4	19	45445551	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33676	45445551	13683432	13756	37258											
GEMIN7	79760	broad.mit.edu	37	chr19	45593756	45593756	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacattatttcatatacCttcaagccataaagatattg	15	14	5	7	0	2	2	2	1	0	1	2	2	2	2	2	0	2	0	2	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45593756C>A	ENST00000270257.4	+	3	631	c.384C>A	c.(382-384)acC>acA	p.T128T	GEMIN7_ENST00000591747.1_Silent_p.T128T|GEMIN7_ENST00000591607.1_Silent_p.T128T|GEMIN7_ENST00000391951.2_Silent_p.T128T	NM_001007269.1|NM_001007270.1|NM_024707.2	NP_001007270.1|NP_001007271.1|NP_078983.1	Q9H840	GEMI7_HUMAN	gem (nuclear organelle) associated protein 7	128					ncRNA metabolic process|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding			endometrium(1)|kidney(1)|lung(4)|ovary(1)	7		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0131)		TTTCATATACCTTCAAGCCAT	0.517													A	45593756	C	A	45593756	2	1	364	1	0	0	0	0	0	0	0	1	6389	668	24	4		4	GEMIN7	19	45593756	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148205	45593756	13535227	13757	37259											
MARK4	57787	broad.mit.edu	37	chr19	45781872	45781872	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggggacaccaagagaatTggtgagggtcagggagagcc	11	6	17	7	1	1	3	1	1	0	2	2	6	1	4	2	5	1	0	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45781872T>C	ENST00000300843.4	+	10	1302	c.1005T>C	c.(1003-1005)atT>atC	p.I335I	MARK4_ENST00000262891.4_Splice_Site_p.I335I	NM_031417.3	NP_113605.2	Q96L34	MARK4_HUMAN	MAP/microtubule affinity-regulating kinase 4	335	UBA.				microtubule bundle formation|nervous system development|positive regulation of programmed cell death	centrosome|neuron projection	ATP binding|gamma-tubulin binding|microtubule binding|protein serine/threonine kinase activity|tau-protein kinase activity|ubiquitin binding			NS(1)|biliary_tract(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	31		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0102)		CCAAGAGAATTGGTGAGGGTC	0.532													C	45781872	T	C	45781872	5	2	364	1	0	0	0	0	0	0	1	0	9390	1826	63	3	1043	3	MARK4	19	45781872	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	188116	45781872	13347111	13758	37260											
CKM	1158	broad.mit.edu	37	chr19	45811737	45811737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctccatggagatgaccCggaggtgatcctcctcgttc	6	11	10	14	2	1	3	0	2	1	1	6	5	3	4	5	3	0	1	5	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45811737C>T	ENST00000221476.3	-	6	881	c.707G>A	c.(706-708)cGg>cAg	p.R236Q		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	236	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GGAGATGACCCGGAGGTGATC	0.587													T	45811737	C	T	45811737	3	4	364	1	0	0	0	0	1	0	0	0	3479	652	23	1	450	1	CKM	19	45811737	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29865	45811737	13317246	13759	37261											
ERCC2	2068	broad.mit.edu	37	chr19	45856054	45856054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacgccaaacatgatgaCggcccgcccgtagtggtgca	9	5	15	12	4	0	2	0	2	0	0	0	3	0	3	3	4	2	2	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45856054C>T	ENST00000391945.4	-	20	1929	c.1852G>A	c.(1852-1854)Gtc>Atc	p.V618I	ERCC2_ENST00000391944.3_Missense_Mutation_p.V540I	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	618	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding	p.V618I(1)		large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		AACATGATGACGGCCCGCCCG	0.617			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	45856054	C	T	45856054	3	4	364	1	0	0	0	0	1	0	0	0	5254	536	19	1	446	1	ERCC2	19	45856054	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44317	45856054	13272929	13760	37262											
ERCC1	2067	broad.mit.edu	37	chr19	45923673	45923673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgcgcacgaacttcagtaCgggattgcccctctggggag	8	9	13	11	3	2	0	1	0	1	0	2	3	2	2	2	3	4	2	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45923673C>T	ENST00000300853.3	-	4	925	c.334G>A	c.(334-336)Gta>Ata	p.V112I	ERCC1_ENST00000013807.5_Missense_Mutation_p.V112I|ERCC1_ENST00000591636.1_Missense_Mutation_p.V112I|ERCC1_ENST00000340192.7_Missense_Mutation_p.V112I|ERCC1_ENST00000423698.2_Missense_Mutation_p.V40I|ERCC1_ENST00000589165.1_Missense_Mutation_p.V112I	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	112					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding	p.V112I(2)		central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		AACTTCAGTACGGGATTGCCC	0.582								Nucleotide excision repair (NER)					T	45923673	C	T	45923673	3	4	364	1	0	0	0	0	1	0	0	0	5253	536	19	1	716	1	ERCC1	19	45923673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67619	45923673	13205310	13761	37263											
RTN2	6253	broad.mit.edu	37	chr19	45988979	45988979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accgttctcattcggctttgGctttggatccggagactgcg	5	13	12	11	4	1	1	1	0	1	1	4	3	2	2	2	4	1	3	2	4	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:45988979G>T	ENST00000590526.1	-	11	1929	c.803C>A	c.(802-804)gCc>gAc	p.A268D	RTN2_ENST00000245923.4_Missense_Mutation_p.A542D|RTN2_ENST00000430715.2_Missense_Mutation_p.A202D|RTN2_ENST00000344680.4_Missense_Mutation_p.A469D			O75298	RTN2_HUMAN	reticulon 2	542						integral to endoplasmic reticulum membrane	signal transducer activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(4)|skin(1)|urinary_tract(1)	20		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00829)|Epithelial(262;0.184)|GBM - Glioblastoma multiforme(486;0.246)		TTCGGCTTTGGCTTTGGATCC	0.652											OREG0025555	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	45988979	G	T	45988979	3	4	364	1	0	0	0	0	1	0	0	0	13817	1203	42	4	16	4	RTN2	19	45988979	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65306	45988979	13140004	13762	37264											
GPR4	2828	broad.mit.edu	37	chr19	46094078	46094078	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctgcacctggtccccCtgggagggcggagtggccgc	4	7	16	14	2	1	0	1	0	0	0	2	2	2	2	4	5	2	2	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46094078C>A	ENST00000323040.4	-	2	1991	c.1047G>T	c.(1045-1047)caG>caT	p.Q349H	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	349						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CCTGGTCCCCCTGGGAGGGCG	0.627													A	46094078	C	A	46094078	3	1	364	1	0	0	0	0	1	0	0	0	6748	680	24	4	45	4	GPR4	19	46094078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105099	46094078	13034905	13763	37265											
EML2	24139	broad.mit.edu	37	chr19	46142120	46142120	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacactgaagataactTctttggttttgctgtcagga	10	13	8	10	0	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46142120T>G	ENST00000536630.1	-	5	611	c.473A>C	c.(472-474)gAa>gCa	p.E158A	EML2_ENST00000587152.1_Missense_Mutation_p.E212A|EML2_ENST00000245925.3_Missense_Mutation_p.E11A|EML2_ENST00000589876.1_Missense_Mutation_p.E11A	NM_001193269.1	NP_001180198.1	O95834	EMAL2_HUMAN	echinoderm microtubule associated protein like 2	11					sensory perception of sound|visual perception	cytoplasm|intracellular membrane-bounded organelle|microtubule|microtubule associated complex	catalytic activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|urinary_tract(1)	31		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00553)|GBM - Glioblastoma multiforme(486;0.131)|Epithelial(262;0.197)		GAAGATAACTTCTTTGGTTTT	0.522													G	46142120	T	G	46142120	3	3	364	1	0	0	0	0	1	0	0	0	5138	1783	62	5	1989	5	EML2	19	46142120	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	48042	46142120	12986863	13764	37266											
GIPR	2696	broad.mit.edu	37	chr19	46181440	46181440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaggcccggggcgccctgCgcttcgccaagctcggcttt	5	7	13	16	5	0	0	0	0	0	0	2	0	0	0	3	4	3	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46181440C>T	ENST00000590918.1	+	12	1207	c.1108C>T	c.(1108-1110)Cgc>Tgc	p.R370C	GIPR_ENST00000304207.8_Missense_Mutation_p.R334C|GIPR_ENST00000263281.3_Missense_Mutation_p.R370C	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	370				GALRF -> APCV (in Ref. 3; CAA57426).	generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		GGGCGCCCTGCGCTTCGCCAA	0.677													T	46181440	C	T	46181440	3	4	364	1	0	0	0	0	1	0	0	0	6451	768	27	1	1150	1	GIPR	19	46181440	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39320	46181440	12947543	13765	37267											
FBXO46	23403	broad.mit.edu	37	chr19	46215271	46215271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaggtgcacttgagggCggccagcgcgcgcgtgggca	5	5	20	11	5	0	1	0	1	0	0	0	1	0	1	1	5	2	3	1	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215271C>T	ENST00000317683.3	-	2	1616	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	495	F-box.						protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		CACTTGAGGGCGGCCAGCGCG	0.652													T	46215271	C	T	46215271	3	4	364	1	0	0	0	0	1	0	0	0	5804	768	27	1	332	1	FBXO46	19	46215271	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33831	46215271	12913712	13766	37268											
FBXO46	23403	broad.mit.edu	37	chr19	46215959	46215959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggggctcccggccgttggaGatgcggaaggcgatgcgcac	6	5	18	12	6	0	1	0	0	0	1	1	4	1	2	2	6	2	3	2	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46215959G>A	ENST00000317683.3	-	2	928	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	265							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GGCCGTTGGAGATGCGGAAGG	0.731													A	46215959	G	A	46215959	2	1	364	1	0	0	0	0	0	0	0	1	5804	932	33	2		2	FBXO46	19	46215959	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	688	46215959	12913024	13767	37269											
DMPK	1760	broad.mit.edu	37	chr19	46280785	46280785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccgggggacacagcaaccGctgaatgaagtctcgagcct	10	6	12	13	3	1	2	0	2	1	0	3	4	2	3	3	2	3	2	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46280785G>A	ENST00000600757.1	-	7	1663	c.976C>T	c.(976-978)Cgg>Tgg	p.R326W	DMPK_ENST00000343373.4_Missense_Mutation_p.R326W|DMPK_ENST00000447742.2_Missense_Mutation_p.R316W|DMPK_ENST00000291270.4_Missense_Mutation_p.R316W|DMPK_ENST00000354227.5_Missense_Mutation_p.R316W|DMPK_ENST00000458663.2_Missense_Mutation_p.R316W			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	326	Protein kinase.				regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CACAGCAACCGCTGAATGAAG	0.652													A	46280785	G	A	46280785	3	1	364	1	0	0	0	0	1	0	0	0	4623	1086	38	1	982	1	DMPK	19	46280785	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	64826	46280785	12848198	13768	37270											
DMWD	1762	broad.mit.edu	37	chr19	46289657	46289657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttgacccaggacttgtggCcatggcctcgagccaccacg	7	7	12	15	3	0	1	0	1	0	0	1	3	0	2	5	3	1	1	5	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46289657C>A	ENST00000270223.6	-	3	1142	c.1097G>T	c.(1096-1098)gGc>gTc	p.G366V	DMWD_ENST00000377735.3_Missense_Mutation_p.G366V	NM_004943.1	NP_004934.1	Q09019	DMWD_HUMAN	dystrophia myotonica, WD repeat containing	366					meiosis					central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00604)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.236)		GGACTTGTGGCCATGGCCTCG	0.672													A	46289657	C	A	46289657	3	1	364	1	0	0	0	0	1	0	0	0	4632	739	26	4	939	4	DMWD	19	46289657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8872	46289657	12839326	13769	37271											
SYMPK	8189	broad.mit.edu	37	chr19	46331149	46331149	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactctctgtgatgagtggCgcctccagcacaaccttggt	7	10	11	13	1	1	2	0	2	1	0	3	2	2	2	3	2	2	2	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46331149C>T	ENST00000245934.7	-	15	2257	c.2013G>A	c.(2011-2013)gcG>gcA	p.A671A		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	671					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		TGATGAGTGGCGCCTCCAGCA	0.647													T	46331149	C	T	46331149	2	4	364	1	0	0	0	0	0	0	0	1	15536	755	27	1		1	SYMPK	19	46331149	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41492	46331149	12797834	13770	37272											
SYMPK	8189	broad.mit.edu	37	chr19	46345528	46345528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttcatcttcttgagtGtggagtccgagtcatcgcgg	6	12	12	11	3	4	1	2	1	2	0	6	3	5	2	2	2	1	1	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46345528G>A	ENST00000245934.7	-	9	1311	c.1067C>T	c.(1066-1068)aCa>aTa	p.T356I		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	356					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CTTCTTGAGTGTGGAGTCCGA	0.572													A	46345528	G	A	46345528	3	1	364	1	0	0	0	0	1	0	0	0	15536	1377	48	2	2833	2	SYMPK	19	46345528	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14379	46345528	12783455	13771	37273											
SYMPK	8189	broad.mit.edu	37	chr19	46351106	46351106	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccatgcggggtgacaGggtgacaatgaggccctcca	9	6	15	11	1	1	3	1	3	0	0	2	3	2	3	3	4	2	0	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46351106G>T	ENST00000245934.7	-	7	824	c.580C>A	c.(580-582)Ctg>Atg	p.L194M		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	194					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		CGGGGTGACAGGGTGACAATG	0.582													T	46351106	G	T	46351106	3	4	364	1	0	0	0	0	1	0	0	0	15536	991	35	4	3328	4	SYMPK	19	46351106	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5578	46351106	12777877	13772	37274											
IRF2BP1	26145	broad.mit.edu	37	chr19	46387584	46387584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacccccgctgacagcttcGgcccccgctgtgggactgac	5	6	11	19	3	0	2	0	2	0	0	1	3	0	3	5	2	1	3	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46387584G>A	ENST00000302165.3	-	1	1792	c.1449C>T	c.(1447-1449)gcC>gcT	p.A483A		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		TGACAGCTTCGGCCCCCGCTG	0.716													A	46387584	G	A	46387584	2	1	364	1	0	0	0	0	0	0	0	1	7887	1103	39	1		1	IRF2BP1	19	46387584	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36478	46387584	12741399	13773	37275											
NANOS2	339345	broad.mit.edu	37	chr19	46417658	46417658	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtggccccgcacacgggAcacacgtagtgcctcaggat	8	5	13	15	4	1	0	1	0	0	0	1	2	1	2	4	4	1	2	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417658A>G	ENST00000341294.2	-	1	378	c.294T>C	c.(292-294)tgT>tgC	p.C98C		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	98					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		CGCACACGGGACACACGTAGT	0.652													G	46417658	A	G	46417658	2	3	364	1	0	0	0	0	0	0	0	1	10228	273	10	3		3	NANOS2	19	46417658	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30074	46417658	12711325	13774	37276											
NANOS2	339345	broad.mit.edu	37	chr19	46417729	46417729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtgtgaggagtagaCgtggcgggactccccgttgt	6	9	17	9	3	0	2	0	1	0	1	1	4	1	4	2	4	1	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46417729C>T	ENST00000341294.2	-	1	307	c.223G>A	c.(223-225)Gtc>Atc	p.V75I		NM_001029861.2	NP_001025032.1	P60321	NANO2_HUMAN	nanos homolog 2 (Drosophila)	75					germ-line stem cell maintenance|mRNA catabolic process|multicellular organismal development|negative regulation of meiosis|regulation of translation|spermatogenesis	cytoplasmic mRNA processing body|perinuclear region of cytoplasm	RNA binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	6		Ovarian(192;0.0308)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0668)|Epithelial(262;0.231)		GAGGAGTAGACGTGGCGGGAC	0.687													T	46417729	C	T	46417729	3	4	364	1	0	0	0	0	1	0	0	0	10228	536	19	1	197	1	NANOS2	19	46417729	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71	46417729	12711254	13775	37277											
IGFL3	388555	broad.mit.edu	37	chr19	46627142	46627142	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcaaggtagggacctttaCctggtacagctccgggagat	10	8	14	9	1	0	1	0	0	0	1	1	4	1	2	3	4	4	4	3	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46627142C>T	ENST00000341415.2	-	3	375		c.e3+1		AC007193.6_ENST00000597989.1_lincRNA	NM_207393.1	NP_997276.1	Q6UXB1	IGFL3_HUMAN	IGF-like family member 3							extracellular region	protein binding			endometrium(1)|large_intestine(1)|lung(5)	7		Ovarian(192;0.0175)|all_neural(266;0.0476)		OV - Ovarian serous cystadenocarcinoma(262;0.00473)|GBM - Glioblastoma multiforme(486;0.0149)|Epithelial(262;0.239)		GGGACCTTTACCTGGTACAGC	0.498													T	46627142	C	T	46627142	5	4	364	1	0	0	0	0	0	0	1	0	7646	521	18	2	34	2	IGFL3	19	46627142	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	209413	46627142	12501841	13776	37278											
HIF3A	64344	broad.mit.edu	37	chr19	46815864	46815864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtggtgtcagggggaCggggcccccagtcggagagt	7	5	18	11	2	1	1	1	0	0	1	2	3	1	2	3	6	0	0	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:46815864C>T	ENST00000339613.2	+	8	1066	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	HIF3A_ENST00000600383.1_Missense_Mutation_p.R258W|HIF3A_ENST00000377670.4_Missense_Mutation_p.R327W|HIF3A_ENST00000300862.3_Missense_Mutation_p.R325W|HIF3A_ENST00000472815.1_Missense_Mutation_p.R258W|HIF3A_ENST00000244303.6_Missense_Mutation_p.R258W|HIF3A_ENST00000420102.2_Missense_Mutation_p.R276W			Q9Y2N7	HIF3A_HUMAN	hypoxia inducible factor 3, alpha subunit	327	PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(14)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	33		Ovarian(192;0.00965)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00204)|all cancers(93;0.0107)|GBM - Glioblastoma multiforme(486;0.0489)|Epithelial(262;0.136)		GTCAGGGGGACGGGGCCCCCA	0.617													T	46815864	C	T	46815864	3	4	364	1	0	0	0	0	1	0	0	0	7160	527	19	1	1033	1	HIF3A	19	46815864	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	188722	46815864	12313119	13777	37279											
PRKD2	25865	broad.mit.edu	37	chr19	47193909	47193909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgcttggtagggaagCgcagtttgtcaatgacctta	8	13	11	9	1	2	1	1	1	1	0	3	2	2	2	2	2	2	4	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47193909C>T	ENST00000433867.1	-	14	2234	c.1757G>A	c.(1756-1758)cGc>cAc	p.R586H	PRKD2_ENST00000595515.1_Missense_Mutation_p.R586H|PRKD2_ENST00000601806.1_Missense_Mutation_p.R429H|PRKD2_ENST00000291281.4_Missense_Mutation_p.R586H|PRKD2_ENST00000600194.1_Missense_Mutation_p.R429H	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	586	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGTAGGGAAGCGCAGTTTGTC	0.562													T	47193909	C	T	47193909	3	4	364	1	0	0	0	0	1	0	0	0	12605	768	27	1	903	1	PRKD2	19	47193909	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	378045	47193909	11935074	13778	37280											
STRN4	29888	broad.mit.edu	37	chr19	47228077	47228077	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcaccgtagccatcataGggatccatgctgaggtctgg	8	10	11	12	1	3	1	2	1	1	0	5	2	5	2	4	3	2	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228077G>T	ENST00000391910.3	-	12	2052	c.1602C>A	c.(1600-1602)ccC>ccA	p.P534P	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Silent_p.P527P|STRN4_ENST00000539396.1_Silent_p.P408P			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	527						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		AGCCATCATAGGGATCCATGC	0.597													T	47228077	G	T	47228077	2	4	364	1	0	0	0	0	0	0	0	1	15427	987	35	4		4	STRN4	19	47228077	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34168	47228077	11900906	13779	37281											
STRN4	29888	broad.mit.edu	37	chr19	47228890	47228890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtcttcttaaaagcatCtttgctgtcagacagctggg	9	12	9	11	1	4	1	1	0	3	1	4	1	4	1	1	1	3	3	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47228890C>A	ENST00000391910.3	-	10	1735	c.1285G>T	c.(1285-1287)Gat>Tat	p.D429Y	STRN4_ENST00000594357.2_5'UTR|STRN4_ENST00000263280.6_Missense_Mutation_p.D422Y|STRN4_ENST00000539396.1_Missense_Mutation_p.D303Y			Q9NRL3	STRN4_HUMAN	striatin, calmodulin binding protein 4	422						cytoplasm|membrane	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000563)|all cancers(93;0.00138)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.035)		TTAAAAGCATCTTTGCTGTCA	0.602													A	47228890	C	A	47228890	3	1	364	1	0	0	0	0	1	0	0	0	15427	913	32	4	1029	4	STRN4	19	47228890	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	813	47228890	11900093	13780	37282											
ARHGAP35	2909	broad.mit.edu	37	chr19	47422504	47422505	+	Frame_Shift_Ins	INS	-	-	A																															tacaatcagcttgcaaaaacINSaaaaaagcccatagtggtgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47422504_47422505insA	ENST00000404338.3	+	1	572_573	c.572_573insA	c.(571-576)acaaaafs	p.TK191fs		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	191					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CTTGCAAAAACAAAAAAGCCCA	0.426													A	47422505	-	A	47422504	7	5	364	1	0	1	1	0	0	0	0	0	6850	478	17	0	574	0	ARHGAP35	19	47422504	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	193614	47422504	11706479	13781	37283											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423806	47423806	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttgtacaaatgatgacaAgtatgtgatagatggtaaaa	16	13	9	3	0	1	4	0	3	1	1	1	4	1	4	0	1	1	3	0	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47423806A>T	ENST00000404338.3	+	1	1874	c.1874A>T	c.(1873-1875)aAg>aTg	p.K625M		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	625					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										AATGATGACAAGTATGTGATA	0.453													T	47423806	A	T	47423806	3	4	364	1	0	0	0	0	1	0	0	0	6850	72	3	5	1876	5	ARHGAP35	19	47423806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1302	47423806	11705177	13782	37284											
ARHGAP35	2909	broad.mit.edu	37	chr19	47424716	47424716	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccctgtagccaaccccaGcataaacttgagatctttca	12	10	5	14	0	2	1	1	1	1	1	3	2	3	1	5	0	4	2	5	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47424716G>T	ENST00000404338.3	+	1	2784	c.2784G>T	c.(2782-2784)caG>caT	p.Q928H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	928					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										GCCAACCCCAGCATAAACTTG	0.443													T	47424716	G	T	47424716	3	4	364	1	0	0	0	0	1	0	0	0	6850	962	34	4	2786	4	ARHGAP35	19	47424716	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	910	47424716	11704267	13783	37285											
ZC3H4	23211	broad.mit.edu	37	chr19	47572365	47572365	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgccttcctcattctcccgGtcctgcttgctgctctcagc	2	14	8	17	1	3	0	2	0	2	0	7	0	5	0	4	1	5	3	4	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572365G>A	ENST00000253048.5	-	14	2419	c.2382C>T	c.(2380-2382)gaC>gaT	p.D794D	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	794							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CATTCTCCCGGTCCTGCTTGC	0.687													A	47572365	G	A	47572365	2	1	364	1	0	0	0	0	0	0	0	1	17671	1252	44	2		2	ZC3H4	19	47572365	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147649	47572365	11556618	13784	37286											
ZC3H4	23211	broad.mit.edu	37	chr19	47572495	47572495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggcgcctggcttcggcCggcctgggggccctccctca	2	6	14	19	4	1	0	1	0	0	0	3	0	2	0	6	6	0	1	6	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47572495C>T	ENST00000253048.5	-	14	2289	c.2252G>A	c.(2251-2253)cGg>cAg	p.R751Q	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	751							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		TGGCTTCGGCCGGCCTGGGGG	0.677													T	47572495	C	T	47572495	3	4	364	1	0	0	0	0	1	0	0	0	17671	652	23	1	1667	1	ZC3H4	19	47572495	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130	47572495	11556488	13785	37287											
ZC3H4	23211	broad.mit.edu	37	chr19	47575268	47575268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgtcagggtgcatgtccGggtgcatgtcggggtgcatg	5	10	18	8	2	1	0	1	0	0	0	3	0	2	0	1	4	3	4	1	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47575268G>A	ENST00000253048.5	-	13	1950	c.1913C>T	c.(1912-1914)cCg>cTg	p.P638L	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	638	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		gtgcatgtccgggtgcatgtc	0.672													A	47575268	G	A	47575268	3	1	364	1	0	0	0	0	1	0	0	0	17671	1116	39	1	2010	1	ZC3H4	19	47575268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2773	47575268	11553715	13786	37288											
DHX34	9704	broad.mit.edu	37	chr19	47865951	47865951	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggactcgttggtgctgcagGtgaggcatgggcagaaaggg	8	8	19	6	1	0	2	0	1	0	1	1	3	0	3	0	6	2	5	0	6	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47865951G>A	ENST00000328771.4	+	6	1942		c.e6+1		DHX34_ENST00000471451.1_Intron	NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34							intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		GGTGCTGCAGGTGAGGCATGG	0.502													A	47865951	G	A	47865951	5	1	364	1	0	0	0	0	0	0	1	0	4546	1275	44	2	1612	2	DHX34	19	47865951	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	290683	47865951	11263032	13787	37289											
DHX34	9704	broad.mit.edu	37	chr19	47879311	47879311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctgtacccacagctggCcgtccccgacgccttcaaca	7	6	10	18	3	1	0	1	0	0	0	2	1	2	0	6	2	3	2	6	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47879311C>T	ENST00000328771.4	+	11	2787	c.2438C>T	c.(2437-2439)gCc>gTc	p.A813V		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	813						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		CCACAGCTGGCCGTCCCCGAC	0.657													T	47879311	C	T	47879311	3	4	364	1	0	0	0	0	1	0	0	0	4546	739	26	2	2476	2	DHX34	19	47879311	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13360	47879311	11249672	13788	37290											
MEIS3	56917	broad.mit.edu	37	chr19	47920151	47920151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcccagctccggccccGtcacggggagagcatgtagc	7	4	13	17	3	1	1	1	0	0	1	2	2	2	1	5	3	4	3	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47920151G>A	ENST00000331559.5	-	3	696	c.255C>T	c.(253-255)gaC>gaT	p.D85D	MEIS3_ENST00000561096.1_Silent_p.D173D|MEIS3_ENST00000559524.1_Silent_p.D85D|MEIS3_ENST00000441740.2_Silent_p.D85D|MEIS3_ENST00000561293.1_Silent_p.D85D|MEIS3_ENST00000558555.1_Silent_p.D85D	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	85						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		CTCCGGCCCCGTCACGGGGAG	0.617													A	47920151	G	A	47920151	2	1	364	1	0	0	0	0	0	0	0	1	9544	1136	40	1		1	MEIS3	19	47920151	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40840	47920151	11208832	13789	37291											
SLC8A2	6543	broad.mit.edu	37	chr19	47940750	47940750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaattgcctctaaaaactgCtccctccatgaatgggtccc	10	11	7	13	0	1	1	0	1	1	0	4	1	4	1	4	1	3	2	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47940750C>T	ENST00000236877.6	-	8	2474	c.2079G>A	c.(2077-2079)gaG>gaA	p.E693E	SLC8A2_ENST00000601757.1_5'UTR|SLC8A2_ENST00000542837.1_Silent_p.E449E|SLC8A2_ENST00000539381.1_Silent_p.E156E	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	693					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTAAAAACTGCTCCCTCCATG	0.517													T	47940750	C	T	47940750	2	4	364	1	0	0	0	0	0	0	0	1	14801	796	28	2		2	SLC8A2	19	47940750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20599	47940750	11188233	13790	37292											
SLC8A2	6543	broad.mit.edu	37	chr19	47960708	47960708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcttcggggggtcgccCtcggcgcctatgatgatgcc	4	10	14	13	4	1	2	0	2	1	0	4	2	1	2	3	4	2	1	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47960708C>T	ENST00000236877.6	-	3	1214	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC8A2_ENST00000542837.1_Silent_p.E29E|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	273					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GGGGGTCGCCCTCGGCGCCTA	0.701													T	47960708	C	T	47960708	2	4	364	1	0	0	0	0	0	0	0	1	14801	680	24	2		2	SLC8A2	19	47960708	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19958	47960708	11168275	13791	37293											
SLC8A2	6543	broad.mit.edu	37	chr19	47969296	47969296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccgtctcattccagatgCgaacggtgcccacgctggtc	8	8	10	15	4	1	1	1	0	1	1	4	2	2	1	3	2	3	1	3	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969296C>T	ENST00000236877.6	-	2	760	c.365G>A	c.(364-366)cGc>cAc	p.R122H	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	122					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ATTCCAGATGCGAACGGTGCC	0.587													T	47969296	C	T	47969296	3	4	364	1	0	0	0	0	1	0	0	0	14801	768	27	1	2436	1	SLC8A2	19	47969296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8588	47969296	11159687	13792	37294											
SLC8A2	6543	broad.mit.edu	37	chr19	47969326	47969326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacgctggtctcaccgttgGccttggtgatggtgatctcc	4	12	12	13	2	2	2	1	2	2	0	4	2	2	2	4	4	0	2	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47969326G>A	ENST00000236877.6	-	2	730	c.335C>T	c.(334-336)gCc>gTc	p.A112V	SLC8A2_ENST00000542837.1_Intron|SLC8A2_ENST00000539381.1_Intron	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	112					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		CTCACCGTTGGCCTTGGTGAT	0.577													A	47969326	G	A	47969326	3	1	364	1	0	0	0	0	1	0	0	0	14801	1203	42	2	2466	2	SLC8A2	19	47969326	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30	47969326	11159657	13793	37295											
KPTN	11133	broad.mit.edu	37	chr19	47986473	47986473	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggttcaggcagctctCtgtaggcagggcacaggcag	8	7	14	12	0	2	0	1	0	1	0	4	0	3	0	1	5	1	7	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:47986473C>A	ENST00000338134.3	-	4	502		c.e4-1		KPTN_ENST00000536339.1_Splice_Site|KPTN_ENST00000595484.1_Splice_Site	NM_007059.2	NP_008990.2	Q9Y664	KPTN_HUMAN	kaptin (actin binding protein)						actin filament organization|cellular component movement|sensory perception of sound	actin cytoskeleton|growth cone|microtubule organizing center|nucleus|perinuclear region of cytoplasm|stereocilium	actin binding			breast(1)|lung(3)|ovary(2)|pancreas(2)	8		all_cancers(25;1.55e-10)|all_epithelial(76;3.4e-08)|all_lung(116;1.73e-07)|Lung NSC(112;3.95e-07)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		OV - Ovarian serous cystadenocarcinoma(262;0.000428)|all cancers(93;0.000631)|Epithelial(262;0.0153)|GBM - Glioblastoma multiforme(486;0.0694)		AGGCAGCTCTCTGTAGGCAGG	0.602													A	47986473	C	A	47986473	5	1	364	1	0	0	0	0	0	0	1	0	8495	927	32	4	952	4	KPTN	19	47986473	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17147	47986473	11142510	13794	37296											
TPRX1	284355	broad.mit.edu	37	chr19	48305146	48305146	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcatccccttcttggtaCtgagaggtcatggtggagac	8	11	13	9	0	3	2	2	1	1	2	4	5	4	2	2	4	1	1	2	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48305146C>A	ENST00000535759.1	-	4	1412	c.1413G>T	c.(1411-1413)caG>caT	p.Q471H	TPRX1_ENST00000543508.1_Missense_Mutation_p.Q364H|TPRX1_ENST00000322175.3_Missense_Mutation_p.Q374H			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	374						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		CTTCTTGGTACTGAGAGGTCA	0.537													A	48305146	C	A	48305146	3	1	364	1	0	0	0	0	1	0	0	0	16523	564	20	4	117	4	TPRX1	19	48305146	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	318673	48305146	10823837	13795	37297											
SULT2A1	6822	broad.mit.edu	37	chr19	48389406	48389406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtaagtcaatattattaCatcttcatcccttatcacaa	13	14	5	9	0	4	0	3	0	1	0	5	0	5	0	1	2	1	1	1	2	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389406C>T	ENST00000222002.3	-	1	248	c.109G>A	c.(109-111)Gta>Ata	p.V37I		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	37					3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AATATTATTACATCTTCATCC	0.413													T	48389406	C	T	48389406	3	4	364	1	0	0	0	0	1	0	0	0	15477	478	17	2	772	2	SULT2A1	19	48389406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84260	48389406	10739577	13796	37298											
SULT2A1	6822	broad.mit.edu	37	chr19	48389603	48389603	+	Translation_Start_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcagatcagcttttacaGcaaggataaaacgatcttta	15	10	8	8	1	2	1	1	0	1	1	2	3	2	2	0	2	4	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48389603G>T	ENST00000222002.3	-	0	51					NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|bile acid catabolic process|cellular lipid metabolic process|digestion|sulfation|xenobiotic metabolic process	cytosol	bile-salt sulfotransferase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)		AGCTTTTACAGCAAGGATAAA	0.453													T	48389603	G	T	48389603	1	4	364	1	0	0	0	0	0	0	0	0	15477	986	34	4		4	SULT2A1	19	48389603	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197	48389603	10739380	13797	37299											
CABP5	56344	broad.mit.edu	37	chr19	48543905	48543905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcaatcagttccatctcCgtgggcatgtaacccatcgt	9	11	8	13	2	3	0	2	0	1	0	6	0	4	0	3	1	2	4	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48543905C>T	ENST00000293255.2	-	3	325	c.195G>A	c.(193-195)acG>acA	p.T65T		NM_019855.4	NP_062829.1	Q9NP86	CABP5_HUMAN	calcium binding protein 5	65	EF-hand 2.		T -> R (in dbSNP:rs34862923).		signal transduction	cytoplasm	calcium ion binding			endometrium(1)|large_intestine(3)|lung(3)|prostate(2)|skin(2)	11		all_cancers(25;1.86e-08)|all_lung(116;1.14e-06)|all_epithelial(76;1.16e-06)|Lung NSC(112;2.54e-06)|all_neural(266;0.0138)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;4.09e-05)|all cancers(93;0.000322)|Epithelial(262;0.01)|GBM - Glioblastoma multiforme(486;0.058)		GTTCCATCTCCGTGGGCATGT	0.537													T	48543905	C	T	48543905	2	4	364	1	0	0	0	0	0	0	0	1	2560	639	23	1		1	CABP5	19	48543905	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154302	48543905	10585078	13798	37300											
PLA2G4C	8605	broad.mit.edu	37	chr19	48556297	48556297	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaggatcttcttcttgttttCcctgacattcttcttggcta	6	19	6	10	0	5	1	0	1	5	0	6	2	6	2	1	2	0	2	1	2	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48556297C>A	ENST00000354276.3	-	16	1864	c.1537G>T	c.(1537-1539)Gaa>Taa	p.E513*	PLA2G4C_ENST00000599111.1_Nonsense_Mutation_p.E523*|PLA2G4C_ENST00000413144.2_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000599921.1_Nonsense_Mutation_p.E513*|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	513	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TTCTTGTTTTCCCTGACATTC	0.478													A	48556297	C	A	48556297	4	1	364	1	0	0	0	0	0	1	0	0	12080	864	30	4	100	4	PLA2G4C	19	48556297	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12392	48556297	10572686	13799	37301											
PLA2G4C	8605	broad.mit.edu	37	chr19	48565309	48565309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgaggtgaacctcccgCgtcgggggcagcacgagtgg	8	5	18	10	4	0	2	0	2	0	0	2	4	1	3	2	5	2	2	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48565309C>T	ENST00000354276.3	-	14	1530	c.1203G>A	c.(1201-1203)acG>acA	p.T401T	PLA2G4C_ENST00000599111.1_Silent_p.T411T|CTD-2265M8.2_ENST00000596552.1_RNA|CTD-2265M8.2_ENST00000601950.1_RNA|PLA2G4C_ENST00000413144.2_Silent_p.T401T|PLA2G4C_ENST00000599921.1_Silent_p.T401T|CTD-2265M8.2_ENST00000601548.1_RNA|PLA2G4C_ENST00000596510.1_5'UTR	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	401	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		GAACCTCCCGCGTCGGGGGCA	0.607													T	48565309	C	T	48565309	2	4	364	1	0	0	0	0	0	0	0	1	12080	755	27	1		1	PLA2G4C	19	48565309	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9012	48565309	10563674	13800	37302											
PLA2G4C	8605	broad.mit.edu	37	chr19	48608606	48608606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctcatcagcctcaatcCttagcttcttcagagctttc	8	15	4	14	0	5	1	4	0	1	1	7	1	6	1	3	0	4	2	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48608606C>A	ENST00000354276.3	-	3	431	c.104G>T	c.(103-105)aGg>aTg	p.R35M	PLA2G4C_ENST00000599111.1_Missense_Mutation_p.R45M|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.R35M|PLA2G4C_ENST00000599921.1_Missense_Mutation_p.R35M	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	35	PLA2c.				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		AGCCTCAATCCTTAGCTTCTT	0.557													A	48608606	C	A	48608606	3	1	364	1	0	0	0	0	1	0	0	0	12080	681	24	4	1585	4	PLA2G4C	19	48608606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43297	48608606	10520377	13801	37303											
LIG1	3978	broad.mit.edu	37	chr19	48665519	48665519	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccagccctgtgacatacTttggagggggctccgtctct	6	11	11	13	1	1	1	0	1	1	0	4	2	3	2	3	3	2	1	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48665519T>G	ENST00000263274.7	-	3	526	c.107A>C	c.(106-108)aAg>aCg	p.K36T	LIG1_ENST00000536218.1_Splice_Site_p.K36T|LIG1_ENST00000427526.2_Intron|LIG1_ENST00000599165.1_5'UTR	NM_000234.1	NP_000225.1	P18858	DNLI1_HUMAN	ligase I, DNA, ATP-dependent	36					anatomical structure morphogenesis|base-excision repair|cell division|DNA ligation involved in DNA repair|DNA strand elongation involved in DNA replication|double-strand break repair via homologous recombination|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding			breast(1)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(22)|prostate(2)|skin(1)	44		all_epithelial(76;3.1e-06)|all_lung(116;4.39e-06)|Lung NSC(112;8.96e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;8.45e-05)|all cancers(93;0.000423)|Epithelial(262;0.0177)|GBM - Glioblastoma multiforme(486;0.0329)	Bleomycin(DB00290)	TGTGACATACTTTGGAGGGGG	0.478								Nucleotide excision repair (NER)					G	48665519	T	G	48665519	5	3	364	1	0	0	0	0	0	0	1	0	8841	1623	56	5	2756	5	LIG1	19	48665519	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	56913	48665519	10463464	13802	37304											
TMEM143	55260	broad.mit.edu	37	chr19	48848500	48848500	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaagttggcctgggccaGcaggggctccagagcccgaa	9	4	17	11	1	0	2	0	0	0	2	1	4	1	2	4	5	2	3	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48848500G>A	ENST00000293261.3	-	4	797	c.481C>T	c.(481-483)Ctg>Ttg	p.L161L	TMEM143_ENST00000541566.1_Silent_p.L51L|TMEM143_ENST00000435956.3_Silent_p.L126L|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000436660.2_Intron	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	161						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GCCTGGGCCAGCAGGGGCTCC	0.632													A	48848500	G	A	48848500	2	1	364	1	0	0	0	0	0	0	0	1	16157	962	34	2		2	TMEM143	19	48848500	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	182981	48848500	10280483	13803	37305											
GRIN2D	2906	broad.mit.edu	37	chr19	48918275	48918275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatcgatggcgtctggaacGgcatgatcggggaggtgagg	9	7	19	6	4	1	3	0	2	1	1	3	6	1	5	0	7	1	1	0	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48918275G>A	ENST00000263269.3	+	6	1655	c.1567G>A	c.(1567-1569)Ggc>Agc	p.G523S		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	523						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGTCTGGAACGGCATGATCGG	0.637													A	48918275	G	A	48918275	3	1	364	1	0	0	0	0	1	0	0	0	6837	1116	39	1	1585	1	GRIN2D	19	48918275	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69775	48918275	10210708	13804	37306											
GRIN2D	2906	broad.mit.edu	37	chr19	48945130	48945130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggcaaggtcttcgccaCgacaggctatggcatcgccc	7	7	11	16	4	1	0	0	0	1	0	4	1	2	0	3	4	0	3	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48945130C>T	ENST00000263269.3	+	11	2445	c.2357C>T	c.(2356-2358)aCg>aTg	p.T786M		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	786						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	GTCTTCGCCACGACAGGCTAT	0.632													T	48945130	C	T	48945130	3	4	364	1	0	0	0	0	1	0	0	0	6837	536	19	1	2395	1	GRIN2D	19	48945130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26855	48945130	10183853	13805	37307											
GRWD1	83743	broad.mit.edu	37	chr19	48955977	48955977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctctagtctggttccccaGtggccaccttcaagcagcac	7	9	8	17	0	3	0	1	0	2	0	4	0	4	0	5	2	2	3	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48955977G>A	ENST00000253237.5	+	7	1269	c.1036G>A	c.(1036-1038)Gtg>Atg	p.V346M		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	346						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGGTTCCCCAGTGGCCACCTT	0.647													A	48955977	G	A	48955977	3	1	364	1	0	0	0	0	1	0	0	0	6866	1029	36	2	1062	2	GRWD1	19	48955977	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10847	48955977	10173006	13806	37308											
GRWD1	83743	broad.mit.edu	37	chr19	48956129	48956129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcgggcgacgtggaggcCgaccccggactggccgacct	6	3	18	14	6	0	0	0	0	0	0	0	6	0	2	5	6	0	0	5	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48956129C>T	ENST00000253237.5	+	7	1421	c.1188C>T	c.(1186-1188)gcC>gcT	p.A396A		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	396						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		ACGTGGAGGCCGACCCCGGAC	0.701													T	48956129	C	T	48956129	2	4	364	1	0	0	0	0	0	0	0	1	6866	639	23	1		1	GRWD1	19	48956129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	152	48956129	10172854	13807	37309											
KCNJ14	3770	broad.mit.edu	37	chr19	48967961	48967961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgagactgaggaagggaatgGggtggaaacagaagatgggg	14	5	20	2	0	0	4	0	2	0	3	0	8	0	7	0	7	1	0	0	7	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48967961G>A	ENST00000391884.1	+	2	1714	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E	KCNJ14_ENST00000342291.2_Missense_Mutation_p.G413E			Q9UNX9	IRK14_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 14	413						voltage-gated potassium channel complex	inward rectifier potassium channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(2)|skin(2)|urinary_tract(1)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000109)|all cancers(93;0.000129)|Epithelial(262;0.0081)|GBM - Glioblastoma multiforme(486;0.0222)		GAAGGGAATGGGGTGGAAACA	0.552													A	48967961	G	A	48967961	3	1	364	1	0	0	0	0	1	0	0	0	8106	1232	43	2	1244	2	KCNJ14	19	48967961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11832	48967961	10161022	13808	37310											
CYTH2	9266	broad.mit.edu	37	chr19	48981590	48981590	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatccgagaggtggacgAcccccggaaaccggtaagac	12	3	14	12	4	0	2	0	0	0	2	1	7	1	4	4	4	2	2	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:48981590A>G	ENST00000427476.1	+	10	1247	c.947A>G	c.(946-948)gAc>gGc	p.D316G	CYTH2_ENST00000452733.2_Missense_Mutation_p.D315G	NM_004228.6|NM_017457.5	NP_004219.3|NP_059431.1	Q99418	CYH2_HUMAN	cytohesin 2	316	PH.				actin cytoskeleton organization|endocytosis|regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|membrane fraction|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15						GAGGTGGACGACCCCCGGAAA	0.607													G	48981590	A	G	48981590	3	3	364	1	0	0	0	0	1	0	0	0	4237	275	10	3	985	3	CYTH2	19	48981590	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13629	48981590	10147393	13809	37311											
FAM83E	54854	broad.mit.edu	37	chr19	49104456	49104456	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaatgtagcatccccaccGaaccgccttcgggctgggga	8	8	12	13	3	0	1	0	1	0	0	2	3	1	2	5	3	2	3	5	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49104456G>A	ENST00000263266.3	-	5	1536	c.1347C>T	c.(1345-1347)ttC>ttT	p.F449F		NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	449										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		CATCCCCACCGAACCGCCTTC	0.706													A	49104456	G	A	49104456	2	1	364	1	0	0	0	0	0	0	0	1	5687	1049	37	1		1	FAM83E	19	49104456	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122866	49104456	10024527	13810	37312											
CA11	770	broad.mit.edu	37	chr19	49142710	49142710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaggtcttgaagaaagtagGcatcatctgcgggaatatca	13	10	11	7	1	5	2	3	1	2	1	5	3	5	3	0	3	1	2	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49142710G>A	ENST00000084798.4	-	7	1326	c.647C>T	c.(646-648)gCc>gTc	p.A216V	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	216						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		AAGAAAGTAGGCATCATCTGC	0.572													A	49142710	G	A	49142710	3	1	364	1	0	0	0	0	1	0	0	0	2538	1203	42	2	351	2	CA11	19	49142710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38254	49142710	9986273	13811	37313											
FUT2	2524	broad.mit.edu	37	chr19	49206262	49206262	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccatggcccacttcatcCtctttgtctttacggtttcc	4	17	5	15	1	3	0	1	0	2	0	6	0	6	0	4	2	1	1	4	2	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206262C>A	ENST00000425340.2	+	2	166	c.49C>A	c.(49-51)Ctc>Atc	p.L17I	FUT2_ENST00000391876.4_Missense_Mutation_p.L17I	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	17					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		CCACTTCATCCTCTTTGTCTT	0.542													A	49206262	C	A	49206262	3	1	364	1	0	0	0	0	1	0	0	0	6156	681	24	4	51	4	FUT2	19	49206262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63552	49206262	9922721	13812	37314											
FUT2	2524	broad.mit.edu	37	chr19	49206500	49206500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcggcccgccttcatccCggcccagatgcacagcaccc	6	4	11	20	4	1	1	1	0	0	1	2	1	2	1	5	3	2	2	5	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49206500C>T	ENST00000425340.2	+	2	404	c.287C>T	c.(286-288)cCg>cTg	p.P96L	FUT2_ENST00000391876.4_Missense_Mutation_p.P96L	NM_000511.5|NM_001097638.2	NP_000502.4|NP_001091107.1	Q10981	FUT2_HUMAN	fucosyltransferase 2 (secretor status included)	96					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	galactoside 2-alpha-L-fucosyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)	7		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.00011)|all cancers(93;0.000238)|GBM - Glioblastoma multiforme(486;0.0164)|Epithelial(262;0.017)		GCCTTCATCCCGGCCCAGATG	0.642													T	49206500	C	T	49206500	3	4	364	1	0	0	0	0	1	0	0	0	6156	652	23	1	289	1	FUT2	19	49206500	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	238	49206500	9922483	13813	37315											
IZUMO1	284359	broad.mit.edu	37	chr19	49249026	49249026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagggactttagcgccaGcacgacagacgggtcacata	11	6	11	13	3	1	1	1	0	0	1	2	3	2	2	2	2	2	1	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49249026G>T	ENST00000332955.2	-	2	638	c.91C>A	c.(91-93)Ctg>Atg	p.L31M		NM_182575.2	NP_872381.2	Q8IYV9	IZUM1_HUMAN	izumo sperm-egg fusion 1	31					fusion of sperm to egg plasma membrane	integral to membrane				endometrium(4)|kidney(3)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	17		all_lung(116;0.000156)|Lung NSC(112;0.000251)|all_epithelial(76;0.000761)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		TTTAGCGCCAGCACGACAGAC	0.572													T	49249026	G	T	49249026	3	4	364	1	0	0	0	0	1	0	0	0	7991	962	34	4	997	4	IZUMO1	19	49249026	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42526	49249026	9879957	13814	37316											
FUT1	2523	broad.mit.edu	37	chr19	49254308	49254308	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacagtccaggtgccggaGagggaagcagggtgctgggg	9	5	20	7	1	0	2	0	0	0	2	1	4	1	3	2	6	3	2	2	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49254308G>T	ENST00000310160.3	-	4	1205	c.231C>A	c.(229-231)ctC>ctA	p.L77L		NM_000148.3	NP_000139.1	P19526	FUT1_HUMAN	fucosyltransferase 1 (galactoside 2-alpha-L-fucosyltransferase, H blood group)	77					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to plasma membrane|membrane fraction	galactoside 2-alpha-L-fucosyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(3)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	17		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000135)|all cancers(93;0.000354)|Epithelial(262;0.0191)|GBM - Glioblastoma multiforme(486;0.0222)		AGGTGCCGGAGAGGGAAGCAG	0.662													T	49254308	G	T	49254308	2	4	364	1	0	0	0	0	0	0	0	1	6153	929	33	4		4	FUT1	19	49254308	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5282	49254308	9874675	13815	37317											
PPP1R15A	23645	broad.mit.edu	37	chr19	49376947	49376947	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgataaggacactgcaaGgttctgataagaacccaggg	13	9	11	8	0	2	3	0	2	2	1	2	4	2	4	1	3	2	2	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49376947G>T	ENST00000200453.5	+	2	726	c.457G>T	c.(457-459)Ggt>Tgt	p.G153C		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	153	Required for localization in the endoplasmic reticulum.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		GACACTGCAAGGTTCTGATAA	0.547													T	49376947	G	T	49376947	3	4	364	1	0	0	0	0	1	0	0	0	12445	1000	35	4	459	4	PPP1R15A	19	49376947	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	122639	49376947	9752036	13816	37318											
TULP2	7288	broad.mit.edu	37	chr19	49385367	49385367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattgagcgtgtagacacCgttctccttgtcccacgacg	9	10	10	12	4	1	2	0	1	1	1	3	4	2	2	3	0	1	2	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49385367C>T	ENST00000221399.3	-	12	1513	c.1369G>A	c.(1369-1371)Ggt>Agt	p.G457S		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	457					visual perception	cytoplasm|extracellular region				NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		GTGTAGACACCGTTCTCCTTG	0.512													T	49385367	C	T	49385367	3	4	364	1	0	0	0	0	1	0	0	0	16876	652	23	1	201	1	TULP2	19	49385367	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8420	49385367	9743616	13817	37319											
NUCB1	4924	broad.mit.edu	37	chr19	49422336	49422336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggacgacatgcgggagaTggaggaggagcgactgcgca	11	3	20	7	4	0	1	0	0	0	1	0	9	0	6	0	6	3	1	0	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422336T>C	ENST00000405315.4	+	9	1200	c.866T>C	c.(865-867)aTg>aCg	p.M289T	NUCB1_ENST00000407032.1_Missense_Mutation_p.M289T|NUCB1_ENST00000263273.5_Missense_Mutation_p.M289T|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	289	Binds to GNAI2 and GNAI3 (By similarity).					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		ATGCGGGAGATGGAGGAGGAG	0.617													C	49422336	T	C	49422336	3	2	364	1	0	0	0	0	1	0	0	0	10794	1464	51	3	896	3	NUCB1	19	49422336	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36969	49422336	9706647	13818	37320											
NUCB1	4924	broad.mit.edu	37	chr19	49422352	49422352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggaggaggagcgactGcgcatgcgggagcatgtgat	10	6	19	6	3	0	2	0	1	0	1	0	8	0	6	0	4	4	2	0	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49422352G>A	ENST00000405315.4	+	9	1216	c.882G>A	c.(880-882)ctG>ctA	p.L294L	NUCB1_ENST00000407032.1_Silent_p.L294L|NUCB1_ENST00000263273.5_Silent_p.L294L|NUCB1_ENST00000485798.1_Intron	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	294	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		AGGAGCGACTGCGCATGCGGG	0.607													A	49422352	G	A	49422352	2	1	364	1	0	0	0	0	0	0	0	1	10794	1306	46	2		2	NUCB1	19	49422352	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16	49422352	9706631	13819	37321											
FTL	2512	broad.mit.edu	37	chr19	49469891	49469891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaagtgaagcttatcAagaagatgggtgaccacctg	14	8	13	6	0	1	5	1	3	0	2	1	6	1	6	2	2	1	1	2	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49469891A>G	ENST00000331825.6	+	4	634	c.427A>G	c.(427-429)Aag>Gag	p.K143E		NM_000146.3	NP_000137.2	P02792	FRIL_HUMAN	ferritin, light polypeptide	143	Ferritin-like diiron.				cell death|cellular iron ion homeostasis|cellular membrane organization|iron ion transport|post-Golgi vesicle-mediated transport	cytosol|intracellular ferritin complex	ferric iron binding|identical protein binding|oxidoreductase activity			cervix(1)|kidney(3)|lung(5)	9		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000152)|all cancers(93;0.000435)|GBM - Glioblastoma multiforme(486;0.0171)|Epithelial(262;0.0267)	Iron Dextran(DB00893)	GAAGCTTATCAAGAAGATGGG	0.532													G	49469891	A	G	49469891	3	3	364	1	0	0	0	0	1	0	0	0	6136	131	5	3	441	3	FTL	19	49469891	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	47539	49469891	9659092	13820	37322											
GYS1	2997	broad.mit.edu	37	chr19	49496323	49496323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaattcatcctcccagtccTccagtcctggcagtgaggac	8	9	9	15	1	1	1	1	1	0	0	6	3	6	2	5	2	0	1	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49496323T>C	ENST00000323798.3	-	1	243	c.47A>G	c.(46-48)gAg>gGg	p.E16G	GYS1_ENST00000540532.1_5'UTR|GYS1_ENST00000541188.1_5'UTR|GYS1_ENST00000457974.1_5'UTR|GYS1_ENST00000263276.6_Missense_Mutation_p.E16G|GYS1_ENST00000544287.1_Intron	NM_002103.4	NP_002094.2	P13807	GYS1_HUMAN	glycogen synthase 1 (muscle)	16					glucose metabolic process|glycogen biosynthetic process	cytosol	glycogen (starch) synthase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000164)|all cancers(93;0.000226)|GBM - Glioblastoma multiforme(486;0.00561)|Epithelial(262;0.0286)		CTCCCAGTCCTCCAGTCCTGG	0.627											OREG0025612	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	49496323	T	C	49496323	3	2	364	1	0	0	0	0	1	0	0	0	6967	1551	54	3	2230	3	GYS1	19	49496323	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	26432	49496323	9632660	13821	37323											
SNRNP70	6625	broad.mit.edu	37	chr19	49593547	49593547	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctctcttcttgttcccaGgaccctcgagatgcccctcc	5	11	6	19	1	2	1	0	0	2	1	6	3	4	2	6	1	1	1	6	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593547G>T	ENST00000221448.5	+	3	343		c.e3-1		SNRNP70_ENST00000598441.1_Splice_Site	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)						nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTTGTTCCCAGGACCCTCGAG	0.552													T	49593547	G	T	49593547	5	4	364	1	0	0	0	0	0	0	1	0	14952	1014	35	4	153	4	SNRNP70	19	49593547	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97224	49593547	9535436	13822	37324											
SNRNP70	6625	broad.mit.edu	37	chr19	49593597	49593597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgaaacccgagaggagcGcatggagaggaaagtatgtc	13	6	15	7	2	0	3	0	1	0	2	1	7	0	5	1	3	3	3	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49593597G>A	ENST00000221448.5	+	3	393	c.197G>A	c.(196-198)cGc>cAc	p.R66H	SNRNP70_ENST00000598441.1_Missense_Mutation_p.R66H	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	66					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CGAGAGGAGCGCATGGAGAGG	0.527													A	49593597	G	A	49593597	3	1	364	1	0	0	0	0	1	0	0	0	14952	1087	38	1	203	1	SNRNP70	19	49593597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	49593597	9535386	13823	37325											
SNRNP70	6625	broad.mit.edu	37	chr19	49610962	49610962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatgacacctcccgctacGatgagaggtaagattgggcg	10	7	14	10	4	0	3	0	2	0	2	1	6	1	3	2	2	1	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49610962G>A	ENST00000221448.5	+	9	854	c.658G>A	c.(658-660)Gat>Aat	p.D220N	SNRNP70_ENST00000598441.1_Missense_Mutation_p.D220N	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	220					nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						CTCCCGCTACGATGAGAGGTA	0.677													A	49610962	G	A	49610962	3	1	364	1	0	0	0	0	1	0	0	0	14952	1058	37	1	688	1	SNRNP70	19	49610962	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17365	49610962	9518021	13824	37326											
HRC	3270	broad.mit.edu	37	chr19	49657374	49657374	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttcctcttcctcatctAcaaggccatggtggacatgt	7	14	7	13	0	4	0	1	0	3	0	6	1	6	1	3	3	1	0	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49657374A>G	ENST00000252825.4	-	1	1307	c.1121T>C	c.(1120-1122)gTa>gCa	p.V374A	HRC_ENST00000595625.1_Missense_Mutation_p.V374A	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	374					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		TTCCTCATCTACAAGGCCATG	0.542													G	49657374	A	G	49657374	3	3	364	1	0	0	0	0	1	0	0	0	7407	391	14	3	1002	3	HRC	19	49657374	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	46412	49657374	9471609	13825	37327											
HRC	3270	broad.mit.edu	37	chr19	49658016	49658016	+	Missense_Mutation	SNP	T	T	C																															catcctcatcctcgtcttgaTggctgtggctcctgtggctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658016T>C	ENST00000252825.4	-	1	665	c.479A>G	c.(478-480)cAt>cGt	p.H160R	HRC_ENST00000595625.1_Missense_Mutation_p.H160R	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	160	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCGTCTTGATGGCTGTGGCT	0.582													C	49658016	T	C	49658016	3	2	364	1	0	0	0	0	1	0	0	0	7407	1464	51	3	1644	3	HRC	19	49658016	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	642	49658016	9470967	13826	37328	113	2									
HRC	3270	broad.mit.edu	37	chr19	49658019	49658019	+	Missense_Mutation	SNP	C	C	A																															cctcatcctcgtcttgatggCtgtggctcctgtggctgggg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658019C>A	ENST00000252825.4	-	1	662	c.476G>T	c.(475-477)aGc>aTc	p.S159I	HRC_ENST00000595625.1_Missense_Mutation_p.S159I	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	159	4 X tandem repeats, acidic.|6 X approximate tandem repeats.				muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		GTCTTGATGGCTGTGGCTCCT	0.587													A	49658019	C	A	49658019	3	1	364	1	0	0	0	0	1	0	0	0	7407	797	28	4	1647	4	HRC	19	49658019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	49658019	9470964	13827	37329	113	2									
HRC	3270	broad.mit.edu	37	chr19	49658411	49658411	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccatcccctctgagctgCtgggtcatggccggggggag	5	7	16	13	1	2	1	1	1	1	0	3	2	3	2	4	5	3	2	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49658411C>A	ENST00000252825.4	-	1	270	c.84G>T	c.(82-84)caG>caT	p.Q28H	HRC_ENST00000595625.1_Missense_Mutation_p.Q28H	NM_002152.2	NP_002143.1	P23327	SRCH_HUMAN	histidine rich calcium binding protein	28					muscle contraction	sarcoplasmic reticulum lumen	calcium ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(10)|lung(10)|ovary(1)|prostate(3)|urinary_tract(2)	34		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.01e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.00019)|GBM - Glioblastoma multiforme(486;0.00279)|Epithelial(262;0.00622)		CTCTGAGCTGCTGGGTCATGG	0.667													A	49658411	C	A	49658411	3	1	364	1	0	0	0	0	1	0	0	0	7407	796	28	4	2039	4	HRC	19	49658411	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	392	49658411	9470572	13828	37330											
TRPM4	54795	broad.mit.edu	37	chr19	49671579	49671579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcatgttggtgtggctgtaCgggaccatcagatggccagc	7	9	16	9	1	1	1	1	0	0	1	1	2	1	2	2	5	2	4	2	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49671579C>T	ENST00000252826.5	+	5	637	c.511C>T	c.(511-513)Cgg>Tgg	p.R171W	TRPM4_ENST00000427978.2_Missense_Mutation_p.R171W|TRPM4_ENST00000355712.5_Intron	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	171					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		TGTGGCTGTACGGGACCATCA	0.637													T	49671579	C	T	49671579	3	4	364	1	0	0	0	0	1	0	0	0	16689	527	19	1	529	1	TRPM4	19	49671579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13168	49671579	9457404	13829	37331											
TRPM4	54795	broad.mit.edu	37	chr19	49685991	49685991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctccaactcgctcatcCgcaaccttttggaccaggcg	7	8	8	18	4	1	0	1	0	0	0	4	1	3	1	5	2	2	2	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49685991C>T	ENST00000252826.5	+	11	1546	c.1420C>T	c.(1420-1422)Cgc>Tgc	p.R474C	TRPM4_ENST00000427978.2_Missense_Mutation_p.R474C|TRPM4_ENST00000355712.5_Missense_Mutation_p.R120C|TRPM4_ENST00000601347.1_3'UTR	NM_017636.3	NP_060106.2	Q8TD43	TRPM4_HUMAN	transient receptor potential cation channel, subfamily M, member 4	474					dendritic cell chemotaxis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|protein sumoylation|regulation of T cell cytokine production	endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	ATP binding|calcium activated cation channel activity|calmodulin binding			breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(18)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	49		all_lung(116;8.54e-05)|Lung NSC(112;0.000139)|all_neural(266;0.0506)|Ovarian(192;0.15)		all cancers(93;2.88e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000222)|GBM - Glioblastoma multiforme(486;0.00339)|Epithelial(262;0.00751)		CTCGCTCATCCGCAACCTTTT	0.672													T	49685991	C	T	49685991	3	4	364	1	0	0	0	0	1	0	0	0	16689	652	23	1	1462	1	TRPM4	19	49685991	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14412	49685991	9442992	13830	37332											
SLC6A16	28968	broad.mit.edu	37	chr19	49793840	49793840	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctactcccaaaggggttCtgggtcctgggggaggctca	6	8	14	13	0	2	0	1	0	1	0	4	1	4	1	4	6	1	2	4	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49793840C>A	ENST00000454748.3	-	11	2164	c.1963G>T	c.(1963-1965)Gaa>Taa	p.E655*	SLC6A16_ENST00000335875.4_Intron			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	655						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		CAAAGGGGTTCTGGGTCCTGG	0.512													A	49793840	C	A	49793840	4	1	364	1	0	0	0	0	0	1	0	0	14773	928	32	4		4	SLC6A16	19	49793840	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107849	49793840	9335143	13831	37333											
CD37	951	broad.mit.edu	37	chr19	49840409	49840409	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgctccccagtatttTgggatgctgctgctcctgtt	4	15	9	13	0	1	0	0	0	1	0	3	1	3	1	3	1	4	6	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49840409T>C	ENST00000535669.2	+	4	387	c.273T>C	c.(271-273)ttT>ttC	p.F91F	CD37_ENST00000323906.4_Silent_p.F91F|CD37_ENST00000598095.1_Silent_p.F23F|CD37_ENST00000596426.1_3'UTR|CD37_ENST00000426897.2_Silent_p.F23F|CTC-301O7.4_ENST00000358234.4_lincRNA			P11049	CD37_HUMAN	CD37 molecule	91						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	11		all_lung(116;2.81e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00088)|GBM - Glioblastoma multiforme(486;0.0443)		CCCAGTATTTTGGGATGCTGC	0.607													C	49840409	T	C	49840409	2	2	364	1	0	0	0	0	0	0	0	1	3038	1809	63	3		3	CD37	19	49840409	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	46569	49840409	9288574	13832	37334											
PIH1D1	55011	broad.mit.edu	37	chr19	49951093	49951093	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcccctcacccggattcaGctgcaagttgtatttgtcct	6	13	8	14	1	2	0	2	0	0	0	3	1	3	1	4	1	3	4	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49951093G>A	ENST00000262265.5	-	5	707	c.472C>T	c.(472-474)Ctg>Ttg	p.L158L	PIH1D1_ENST00000596049.1_Silent_p.L158L	NM_017916.2	NP_060386.1	Q9NWS0	PIHD1_HUMAN	PIH1 domain containing 1	158					box C/D snoRNP assembly	pre-snoRNP complex				NS(1)|breast(1)|kidney(1)|large_intestine(2)|lung(5)|urinary_tract(1)	11		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00152)|GBM - Glioblastoma multiforme(486;0.0244)		CCCGGATTCAGCTGCAAGTTG	0.612													A	49951093	G	A	49951093	2	1	364	1	0	0	0	0	0	0	0	1	11983	962	34	2		2	PIH1D1	19	49951093	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110684	49951093	9177890	13833	37335											
RPL13A	23521	broad.mit.edu	37	chr19	49993743	49993743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccctagtgaagtacctgGctttcctccgcaagcggatg	7	11	10	13	2	1	1	0	1	1	0	4	2	3	2	4	2	2	3	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:49993743G>A	ENST00000391857.4	+	4	242	c.166G>A	c.(166-168)Gct>Act	p.A56T	RPL13A_ENST00000477613.2_3'UTR	NM_001270491.1|NM_012423.3	NP_001257420.1|NP_036555.1	P40429	RL13A_HUMAN	ribosomal protein L13a	56					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			cervix(1)|endometrium(1)	2		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00154)|GBM - Glioblastoma multiforme(486;0.0246)		GAAGTACCTGGCTTTCCTCCG	0.622													A	49993743	G	A	49993743	3	1	364	1	0	0	0	0	1	0	0	0	13651	1203	42	2	180	2	RPL13A	19	49993743	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42650	49993743	9135240	13834	37336											
RPS11	6205	broad.mit.edu	37	chr19	50001210	50001210	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgcagaggaccattgTcatccgccgagactatctgc	11	8	11	11	2	2	3	1	0	1	3	3	6	3	4	3	1	2	1	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50001210T>C	ENST00000270625.2	+	4	343	c.260T>C	c.(259-261)gTc>gCc	p.V87A	RPS11_ENST00000594493.1_Missense_Mutation_p.V8A|RPS11_ENST00000599561.1_Silent_p.C52C|RPS11_ENST00000596873.1_Missense_Mutation_p.V87A	NM_001015.4	NP_001006.1	P62280	RS11_HUMAN	ribosomal protein S11	87					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	protein binding|rRNA binding|structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	7		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00206)|GBM - Glioblastoma multiforme(486;0.0245)		AGGACCATTGTCATCCGCCGA	0.572													C	50001210	T	C	50001210	3	2	364	1	0	0	0	0	1	0	0	0	13712	1667	58	3	274	3	RPS11	19	50001210	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7467	50001210	9127773	13835	37337											
NOSIP	51070	broad.mit.edu	37	chr19	50062189	50062189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctccttcttctggtgcaGaatgtactccaggatggcct	8	13	9	11	0	3	1	0	0	3	1	5	2	4	2	3	3	2	2	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50062189G>A	ENST00000391853.3	-	5	374	c.223C>T	c.(223-225)Ctg>Ttg	p.L75L	NOSIP_ENST00000596358.1_Silent_p.L75L|NOSIP_ENST00000339093.3_Silent_p.L75L	NM_015953.4	NP_057037.1	Q9Y314	NOSIP_HUMAN	nitric oxide synthase interacting protein	75	U-box-like.				negative regulation of nitric-oxide synthase activity|nitric oxide metabolic process	cytosol|nucleus	protein binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|skin(2)|urinary_tract(1)	11		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00321)|GBM - Glioblastoma multiforme(134;0.0133)		TTCTGGTGCAGAATGTACTCC	0.572													A	50062189	G	A	50062189	2	1	364	1	0	0	0	0	0	0	0	1	10621	933	33	2		2	NOSIP	19	50062189	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	60979	50062189	9066794	13836	37338											
PRRG2	5639	broad.mit.edu	37	chr19	50086827	50086827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtcccccagaggcccaGagcttcctgagtagccatac	8	7	11	15	0	0	3	0	1	0	2	2	3	2	3	5	2	3	2	5	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50086827G>T	ENST00000246794.5	+	3	283	c.114G>T	c.(112-114)caG>caT	p.Q38H	PRRG2_ENST00000596700.1_Intron	NM_000951.2	NP_000942.1	O14669	TMG2_HUMAN	proline rich Gla (G-carboxyglutamic acid) 2	38						extracellular region|integral to plasma membrane	calcium ion binding			lung(1)|skin(1)|soft_tissue(1)	3		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0121)		CAGAGGCCCAGAGCTTCCTGA	0.577													T	50086827	G	T	50086827	3	4	364	1	0	0	0	0	1	0	0	0	12691	933	33	4	120	4	PRRG2	19	50086827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24638	50086827	9042156	13837	37339											
PRR12	57479	broad.mit.edu	37	chr19	50098071	50098071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcttccttcggcagccGccccttcccagtgccctcgt	2	9	9	21	4	0	0	0	0	0	0	4	0	2	0	7	2	2	2	7	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50098071G>A	ENST00000418929.2	+	4	491	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	573	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCGGCAGCCGCCCCTTCCCA	0.662													A	50098071	G	A	50098071	3	1	364	1	0	0	0	0	1	0	0	0	12670	1087	38	1	493	1	PRR12	19	50098071	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11244	50098071	9030912	13838	37340											
SCAF1	58506	broad.mit.edu	37	chr19	50155744	50155744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacggaccacgacctcttcGccatcaagcggaccatcacg	10	6	8	17	5	4	0	3	0	1	0	5	3	4	2	4	2	1	0	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50155744G>A	ENST00000360565.3	+	7	2222	c.2098G>A	c.(2098-2100)Gcc>Acc	p.A700T		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	700	Ser-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CGACCTCTTCGCCATCAAGCG	0.701													A	50155744	G	A	50155744	3	1	364	1	0	0	0	0	1	0	0	0	13960	1087	38	1	2120	1	SCAF1	19	50155744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57673	50155744	8973239	13839	37341											
IRF3	3661	broad.mit.edu	37	chr19	50166499	50166499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccggagaggtgtctggctgGgaaaagtccccaactcctgt	8	9	13	11	1	1	1	0	0	1	1	4	3	4	2	4	4	1	1	4	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50166499G>A	ENST00000442265.2	-	2	181	c.182C>T	c.(181-183)cCc>cTc	p.P61L	IRF3_ENST00000309877.7_Silent_p.S118S|IRF3_ENST00000596822.1_5'UTR|IRF3_ENST00000377139.3_Silent_p.S118S|IRF3_ENST00000600022.1_5'UTR|IRF3_ENST00000598808.1_5'UTR|IRF3_ENST00000601291.1_Silent_p.S118S|IRF3_ENST00000599223.1_Silent_p.S118S|IRF3_ENST00000377135.4_Silent_p.S118S|IRF3_ENST00000600911.1_Silent_p.S118S|IRF3_ENST00000596765.1_5'UTR|IRF3_ENST00000593922.1_5'UTR|IRF3_ENST00000599144.1_5'UTR|IRF3_ENST00000597198.1_Silent_p.S118S			Q14653	IRF3_HUMAN	interferon regulatory factor 3	187					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGTCTGGCTGGGAAAAGTCCC	0.582													A	50166499	G	A	50166499	3	1	364	1	0	0	0	0	1	0	0	0	7889	1219	43	2	949	2	IRF3	19	50166499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10755	50166499	8962484	13840	37342											
CPT1C	126129	broad.mit.edu	37	chr19	50209545	50209545	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcagcggaggccctggaGgcggtggaaggggccgcttt	6	5	20	10	3	0	0	0	0	0	0	0	3	0	3	2	9	1	2	2	9	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209545G>A	ENST00000392518.4	+	12	1590	c.1218G>A	c.(1216-1218)gaG>gaA	p.E406E	CPT1C_ENST00000323446.5_Silent_p.E406E|CPT1C_ENST00000354199.5_Silent_p.E406E|CPT1C_ENST00000405931.2_Silent_p.E395E|CPT1C_ENST00000598293.1_Silent_p.E406E	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	406					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		AGGCCCTGGAGGCGGTGGAAG	0.697													A	50209545	G	A	50209545	2	1	364	1	0	0	0	0	0	0	0	1	3864	991	35	2		2	CPT1C	19	50209545	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43046	50209545	8919438	13841	37343											
CPT1C	126129	broad.mit.edu	37	chr19	50209622	50209622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagggaggacccggcagcgtCgttggatgcctacgcccatg	7	6	15	13	4	0	0	0	0	0	0	1	3	0	3	3	4	3	2	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50209622C>T	ENST00000392518.4	+	12	1667	c.1295C>T	c.(1294-1296)tCg>tTg	p.S432L	CPT1C_ENST00000323446.5_Missense_Mutation_p.S432L|CPT1C_ENST00000354199.5_Missense_Mutation_p.S432L|CPT1C_ENST00000405931.2_Missense_Mutation_p.S421L|CPT1C_ENST00000598293.1_Missense_Mutation_p.S432L	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	432					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		CCGGCAGCGTCGTTGGATGCC	0.672													T	50209622	C	T	50209622	3	4	364	1	0	0	0	0	1	0	0	0	3864	893	31	1	1333	1	CPT1C	19	50209622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77	50209622	8919361	13842	37344											
AP2A1	160	broad.mit.edu	37	chr19	50285229	50285229	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagccttggatggctacagTaagaaaaaatatgtgtgtaa	17	10	10	4	0	0	1	0	0	0	1	0	2	0	2	1	2	2	3	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50285229T>C	ENST00000354293.5	+	3	328	c.162T>C	c.(160-162)agT>agC	p.S54S	AP2A1_ENST00000359032.5_Silent_p.S54S|AP2A1_ENST00000600199.1_3'UTR	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	54					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ATGGCTACAGTAAGAAAAAAT	0.473													C	50285229	T	C	50285229	2	2	364	1	0	0	0	0	0	0	0	1	741	1635	57	3		3	AP2A1	19	50285229	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	75607	50285229	8843754	13843	37345											
AP2A1	160	broad.mit.edu	37	chr19	50302934	50302934	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggctgacctcctctacGccatgtgtgaccggagcaat	7	8	13	13	3	1	2	0	2	1	0	2	3	2	3	4	3	2	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50302934G>A	ENST00000354293.5	+	10	1349	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	AP2A1_ENST00000359032.5_Missense_Mutation_p.A395T	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	395					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CCTCCTCTACGCCATGTGTGA	0.632													A	50302934	G	A	50302934	3	1	364	1	0	0	0	0	1	0	0	0	741	1087	38	1	1221	1	AP2A1	19	50302934	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17705	50302934	8826049	13844	37346											
AP2A1	160	broad.mit.edu	37	chr19	50309177	50309177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccaaccaccccatggaCgcagaagttactaaggccaa	16	4	8	13	1	0	1	0	0	0	1	0	2	0	2	5	2	3	2	5	2	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309177C>T	ENST00000354293.5	+	21	2800	c.2634C>T	c.(2632-2634)gaC>gaT	p.D878D	AP2A1_ENST00000359032.5_Silent_p.D900D	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	900					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		ACCCCATGGACGCAGAAGTTA	0.592													T	50309177	C	T	50309177	2	4	364	1	0	0	0	0	0	0	0	1	741	535	19	1		1	AP2A1	19	50309177	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6243	50309177	8819806	13845	37347											
AP2A1	160	broad.mit.edu	37	chr19	50309432	50309432	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccccaaccctgagaacttCgtgggggcggggatcatcca	9	6	13	13	2	1	1	1	1	0	1	3	4	2	2	4	4	2	0	4	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50309432C>T	ENST00000354293.5	+	22	2878	c.2712C>T	c.(2710-2712)ttC>ttT	p.F904F	AP2A1_ENST00000359032.5_Silent_p.F926F	NM_130787.2	NP_570603.2	O95782	AP2A1_HUMAN	adaptor-related protein complex 2, alpha 1 subunit	926					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|Golgi to endosome transport|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|clathrin coat of trans-Golgi network vesicle|cytosol	protein binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)	19		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0023)|GBM - Glioblastoma multiforme(134;0.0157)		CTGAGAACTTCGTGGGGGCGG	0.642													T	50309432	C	T	50309432	2	4	364	1	0	0	0	0	0	0	0	1	741	883	31	1		1	AP2A1	19	50309432	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255	50309432	8819551	13846	37348											
TBC1D17	79735	broad.mit.edu	37	chr19	50386140	50386140	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagctgaagaaccggatCttctcgggggtgagtgccag	8	8	15	10	2	2	4	0	3	2	1	3	5	2	5	3	3	3	1	3	3	2	1	rs146598967	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50386140C>A	ENST00000221543.5	+	8	1217	c.918C>A	c.(916-918)atC>atA	p.I306I	TBC1D17_ENST00000535102.2_Silent_p.I273I	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	306						intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACCGGATCTTCTCGGGGG	0.667													A	50386140	C	A	50386140	2	1	364	1	0	0	0	0	0	0	0	1	15703	903	32	4		4	TBC1D17	19	50386140	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76708	50386140	8742843	13847	37349											
TBC1D17	79735	broad.mit.edu	37	chr19	50387952	50387952	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagccaggagaccatgaagCggcaactcgggcgactgctg	11	4	15	11	3	0	3	0	1	0	2	1	5	0	3	2	3	4	2	2	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50387952C>T	ENST00000221543.5	+	13	1680	c.1381C>T	c.(1381-1383)Cgg>Tgg	p.R461W	TBC1D17_ENST00000535102.2_Missense_Mutation_p.R428W	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	461	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		GACCATGAAGCGGCAACTCGG	0.627													T	50387952	C	T	50387952	3	4	364	1	0	0	0	0	1	0	0	0	15703	759	27	1	1431	1	TBC1D17	19	50387952	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1812	50387952	8741031	13848	37350											
ATF5	22809	broad.mit.edu	37	chr19	50436081	50436081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccttctccacctcaacCttctcgcctggccccctacc	4	11	3	23	1	3	0	1	0	2	0	7	0	5	0	9	1	2	0	9	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50436081C>A	ENST00000423777.2	+	3	958	c.581C>A	c.(580-582)cCt>cAt	p.P194H	ATF5_ENST00000595125.1_Missense_Mutation_p.P194H|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	194	Interaction with PTP4A1 (By similarity).|Poly-Pro.				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCACCTCAACCTTCTCGCCTG	0.657													A	50436081	C	A	50436081	3	1	364	1	0	0	0	0	1	0	0	0	1088	681	24	4	587	4	ATF5	19	50436081	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48129	50436081	8692902	13849	37351											
SIGLEC11	114132	broad.mit.edu	37	chr19	50461747	50461747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccagcgcagagagggggCcgggctggcctgggaggagc	7	2	20	12	2	0	1	0	0	0	1	0	4	0	3	4	6	2	2	4	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50461747C>T	ENST00000447370.2	-	8	1534	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	SIGLEC11_ENST00000426971.2_Intron	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	482					cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		AGAGAGGGGGCCGGGCTGGCC	0.706													T	50461747	C	T	50461747	3	4	364	1	0	0	0	0	1	0	0	0	14401	739	26	2	668	2	SIGLEC11	19	50461747	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25666	50461747	8667236	13850	37352											
SIGLEC11	114132	broad.mit.edu	37	chr19	50463907	50463907	+	Missense_Mutation	SNP	G	G	A																															atgcctcatcctccctctgcGcgtctctgatcaccaaggag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463907G>A	ENST00000447370.2	-	2	452	c.362C>T	c.(361-363)gCg>gTg	p.A121V	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121V	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		CTCCCTCTGCGCGTCTCTGAT	0.537													A	50463907	G	A	50463907	3	1	364	1	0	0	0	0	1	0	0	0	14401	1087	38	1	1774	1	SIGLEC11	19	50463907	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2160	50463907	8665076	13851	37353	114	2									
SIGLEC11	114132	broad.mit.edu	37	chr19	50463908	50463908	+	Missense_Mutation	SNP	C	C	T																															tgcctcatcctccctctgcgCgtctctgatcaccaaggagc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50463908C>T	ENST00000447370.2	-	2	451	c.361G>A	c.(361-363)Gcg>Acg	p.A121T	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.A121T	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	121	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TCCCTCTGCGCGTCTCTGATC	0.542													T	50463908	C	T	50463908	3	4	364	1	0	0	0	0	1	0	0	0	14401	768	27	1	1775	1	SIGLEC11	19	50463908	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1	50463908	8665075	13852	37354	114	2									
VRK3	51231	broad.mit.edu	37	chr19	50482412	50482412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagatcctgcagcaaaGcttctaggttgttcctcagc	9	10	9	13	1	2	1	1	0	1	1	4	1	4	1	2	1	4	6	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50482412G>A	ENST00000599538.1	-	14	2028	c.1364C>T	c.(1363-1365)gCt>gTt	p.A455V	VRK3_ENST00000594948.1_Missense_Mutation_p.A455V|VRK3_ENST00000601341.1_Missense_Mutation_p.A405V|VRK3_ENST00000377011.2_Missense_Mutation_p.A405V|VRK3_ENST00000443401.2_Missense_Mutation_p.A224V|VRK3_ENST00000316763.3_Missense_Mutation_p.A455V			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	455	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		CTGCAGCAAAGCTTCTAGGTT	0.562													A	50482412	G	A	50482412	3	1	364	1	0	0	0	0	1	0	0	0	17323	971	34	2	64	2	VRK3	19	50482412	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18504	50482412	8646571	13853	37355											
VRK3	51231	broad.mit.edu	37	chr19	50500782	50500782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcagaggcttggcggcccGctggaagaagttctgctcat	7	10	14	10	2	2	2	1	0	1	2	2	3	2	3	1	4	2	5	1	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50500782G>A	ENST00000599538.1	-	7	1322	c.658C>T	c.(658-660)Cgg>Tgg	p.R220W	VRK3_ENST00000424804.2_Intron|VRK3_ENST00000601912.1_Missense_Mutation_p.R170W|VRK3_ENST00000594948.1_Missense_Mutation_p.R220W|VRK3_ENST00000601341.1_Missense_Mutation_p.R170W|VRK3_ENST00000377011.2_Missense_Mutation_p.R170W|VRK3_ENST00000594092.1_Missense_Mutation_p.R220W|VRK3_ENST00000593919.1_Missense_Mutation_p.R220W|VRK3_ENST00000443401.2_Intron|VRK3_ENST00000316763.3_Missense_Mutation_p.R220W			Q8IV63	VRK3_HUMAN	vaccinia related kinase 3	220	Protein kinase.					nucleus	ATP binding|protein kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)|stomach(2)|urinary_tract(1)	23		all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00166)|OV - Ovarian serous cystadenocarcinoma(262;0.00652)		TTGGCGGCCCGCTGGAAGAAG	0.592													A	50500782	G	A	50500782	3	1	364	1	0	0	0	0	1	0	0	0	17323	1086	38	1	798	1	VRK3	19	50500782	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18370	50500782	8628201	13854	37356											
ZNF473	25888	broad.mit.edu	37	chr19	50550015	50550015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccttcacccagagctcatGcctttctattcaccggagag	9	10	8	14	1	4	2	3	0	1	2	4	3	4	2	4	1	3	1	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50550015G>A	ENST00000595661.1	+	6	2810	c.2315G>A	c.(2314-2316)tGc>tAc	p.C772Y	ZNF473_ENST00000601364.1_Intron|CTD-2126E3.3_ENST00000599914.1_RNA|ZNF473_ENST00000445728.3_Missense_Mutation_p.C760Y|ZNF473_ENST00000270617.3_Missense_Mutation_p.C772Y|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000391821.2_Missense_Mutation_p.C772Y			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	772					histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CAGAGCTCATGCCTTTCTATT	0.512											OREG0025632	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50550015	G	A	50550015	3	1	364	1	0	0	0	0	1	0	0	0	18032	1319	46	2	2329	2	ZNF473	19	50550015	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49233	50550015	8578968	13855	37357											
MYH14	79784	broad.mit.edu	37	chr19	50720971	50720971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accggggcaagaagcgccacGaggtgccaccccacgtgtac	10	3	13	15	4	0	1	0	0	0	1	0	2	0	1	5	3	3	2	5	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50720971G>A	ENST00000440075.2	+	3	552	c.505G>A	c.(505-507)Gag>Aag	p.E169K	MYH14_ENST00000601313.1_Missense_Mutation_p.E169K|MYH14_ENST00000376970.2_Missense_Mutation_p.E169K|MYH14_ENST00000425460.1_Missense_Mutation_p.E169K|MYH14_ENST00000598205.1_Missense_Mutation_p.E169K|MYH14_ENST00000596571.1_Missense_Mutation_p.E169K|MYH14_ENST00000262269.8_Missense_Mutation_p.E169K			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	169	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GAAGCGCCACGAGGTGCCACC	0.612													A	50720971	G	A	50720971	3	1	364	1	0	0	0	0	1	0	0	0	10109	1059	37	1	511	1	MYH14	19	50720971	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170956	50720971	8408012	13856	37358											
KCNC3	3748	broad.mit.edu	37	chr19	50826570	50826570	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgcttggccatggccagcGaatagtacatgccaaagttg	10	10	11	10	1	1	0	0	0	1	0	1	1	1	0	3	2	4	3	3	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50826570G>A	ENST00000376959.2	-	2	1803	c.1640C>T	c.(1639-1641)tCg>tTg	p.S547L	KCNC3_ENST00000474951.1_Intron|KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000477616.1_Missense_Mutation_p.S547L			Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	547					cell death	voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)		CATGGCCAGCGAATAGTACAT	0.627													A	50826570	G	A	50826570	3	1	364	1	0	0	0	0	1	0	0	0	8074	1059	37	1	645	1	KCNC3	19	50826570	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105599	50826570	8302413	13857	37359											
NAPSA	9476	broad.mit.edu	37	chr19	50864331	50864331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatcaaaatgggcaaaagCgaagaccaggctgggctccc	13	4	11	13	1	1	1	1	0	0	1	2	2	2	1	3	3	1	3	3	3	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864331C>T	ENST00000253719.2	-	5	743	c.535G>A	c.(535-537)Gct>Act	p.A179T	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	179					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TGGGCAAAAGCGAAGACCAGG	0.522													T	50864331	C	T	50864331	3	4	364	1	0	0	0	0	1	0	0	0	10242	768	27	1	747	1	NAPSA	19	50864331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37761	50864331	8264652	13858	37360											
NAPSA	9476	broad.mit.edu	37	chr19	50864365	50864365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctcccagagagcctccccGaaaatcactgatgcaccctt	10	7	8	16	1	1	2	1	1	0	1	3	4	3	2	5	1	2	2	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50864365G>A	ENST00000253719.2	-	5	709	c.501C>T	c.(499-501)ttC>ttT	p.F167F	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	167					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GAGCCTCCCCGAAAATCACTG	0.517													A	50864365	G	A	50864365	2	1	364	1	0	0	0	0	0	0	0	1	10242	1049	37	1		1	NAPSA	19	50864365	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	50864365	8264618	13859	37361											
NR1H2	7376	broad.mit.edu	37	chr19	50881013	50881013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcccccctcagcctggcGccccttcttcttcacccact	4	10	6	21	1	4	0	2	0	2	0	4	0	4	0	7	2	1	0	7	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50881013G>A	ENST00000253727.5	+	4	302	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	NR1H2_ENST00000593926.1_Missense_Mutation_p.A23T|NR1H2_ENST00000598168.1_Missense_Mutation_p.A23T|NR1H2_ENST00000542413.1_5'UTR|NR1H2_ENST00000411902.2_Missense_Mutation_p.A23T|NR1H2_ENST00000599105.1_Missense_Mutation_p.A23T	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	23					negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCAGCCTGGCGCCCCTTCTTC	0.632													A	50881013	G	A	50881013	3	1	364	1	0	0	0	0	1	0	0	0	10693	1087	38	1	73	1	NR1H2	19	50881013	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16648	50881013	8247970	13860	37362											
POLD1	5424	broad.mit.edu	37	chr19	50918728	50918728	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggctcacgcacaggaCgtcatctcggacctgctgtg	6	8	14	13	4	3	0	2	0	1	0	4	2	3	2	1	4	1	3	1	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50918728C>T	ENST00000440232.2	+	21	2651	c.2598C>T	c.(2596-2598)gaC>gaT	p.D866D	POLD1_ENST00000599857.1_Silent_p.D866D|POLD1_ENST00000595904.1_Silent_p.D892D	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	866					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		ACGCACAGGACGTCATCTCGG	0.662								DNA polymerases (catalytic subunits)					T	50918728	C	T	50918728	2	4	364	1	0	0	0	0	0	0	0	1	12267	535	19	1		1	POLD1	19	50918728	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37715	50918728	8210255	13861	37363											
MYBPC2	4606	broad.mit.edu	37	chr19	50939873	50939873	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacccccggccctggacccaGgtgtacaccgtggagctgca	7	5	12	17	2	0	0	0	0	0	0	0	2	0	2	5	4	3	3	5	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50939873G>T	ENST00000357701.5	+	5	396		c.e5-1			NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type						cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CCTGGACCCAGGTGTACACCG	0.612													T	50939873	G	T	50939873	5	4	364	1	0	0	0	0	0	0	1	0	10088	1014	35	4	363	4	MYBPC2	19	50939873	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21145	50939873	8189110	13862	37364											
MYBPC2	4606	broad.mit.edu	37	chr19	50940757	50940757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatgcctctgggcagaGtctagaaagcttcaagcgta	11	9	12	9	1	4	2	2	0	2	2	4	3	4	3	1	2	3	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50940757G>T	ENST00000357701.5	+	6	542	c.491G>T	c.(490-492)aGt>aTt	p.S164I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	164					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TCTGGGCAGAGTCTAGAAAGC	0.582													T	50940757	G	T	50940757	3	4	364	1	0	0	0	0	1	0	0	0	10088	1029	36	4	513	4	MYBPC2	19	50940757	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	884	50940757	8188226	13863	37365											
MYBPC2	4606	broad.mit.edu	37	chr19	50964891	50964891	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactatttccgagtttacacCgagaacatctgtgggctcag	10	12	9	10	2	2	1	1	0	1	1	3	3	3	1	2	1	3	2	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:50964891C>T	ENST00000357701.5	+	25	3075	c.3024C>T	c.(3022-3024)acC>acT	p.T1008T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1008	Fibronectin type-III 3.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GAGTTTACACCGAGAACATCT	0.537											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50964891	C	T	50964891	2	4	364	1	0	0	0	0	0	0	0	1	10088	639	23	1		1	MYBPC2	19	50964891	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24134	50964891	8164092	13864	37366											
ASPDH	554235	broad.mit.edu	37	chr19	51015686	51015686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcagccagggcagccgccGccatggtgttggaatttcgc	6	7	16	12	3	0	0	0	0	0	0	1	1	0	1	4	4	2	3	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51015686G>A	ENST00000389208.4	-	5	645	c.584C>T	c.(583-585)gCg>gTg	p.A195V	ASPDH_ENST00000597030.1_5'UTR|ASPDH_ENST00000376916.3_Missense_Mutation_p.A90V	NM_001114598.1	NP_001108070.1	A6ND91	ASPD_HUMAN	aspartate dehydrogenase domain containing	195					NAD biosynthetic process|NADP catabolic process		aspartate dehydrogenase activity|NADP binding			endometrium(1)|large_intestine(1)|lung(1)	3						GGCAGCCGCCGCCATGGTGTT	0.662													A	51015686	G	A	51015686	3	1	364	1	0	0	0	0	1	0	0	0	1056	1087	38	1	279	1	ASPDH	19	51015686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50795	51015686	8113297	13865	37367											
LRRC4B	94030	broad.mit.edu	37	chr19	51021413	51021413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcccccaccccagacaccGtctgtcgtgggccctggcgg	4	5	13	19	4	1	1	0	0	1	1	2	1	1	1	6	4	0	0	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51021413G>A	ENST00000599957.1	-	3	1754	c.1557C>T	c.(1555-1557)gaC>gaT	p.D519D	LRRC4B_ENST00000389201.3_Silent_p.D519D			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	519	Gly-rich.					cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		CCCAGACACCGTCTGTCGTGG	0.741													A	51021413	G	A	51021413	2	1	364	1	0	0	0	0	0	0	0	1	9077	1136	40	1		1	LRRC4B	19	51021413	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5727	51021413	8107570	13866	37368											
LRRC4B	94030	broad.mit.edu	37	chr19	51022065	51022065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgcacgcgctcgaggCggtgcaggggcgtgaagagg	7	5	21	8	5	0	3	0	2	0	1	1	4	0	3	0	6	2	3	0	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022065C>T	ENST00000599957.1	-	3	1102	c.905G>A	c.(904-906)cGc>cAc	p.R302H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R302H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	302						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GCGCTCGAGGCGGTGCAGGGG	0.637													T	51022065	C	T	51022065	3	4	364	1	0	0	0	0	1	0	0	0	9077	768	27	1	1240	1	LRRC4B	19	51022065	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	652	51022065	8106918	13867	37369											
LRRC4B	94030	broad.mit.edu	37	chr19	51022514	51022514	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacaggtactcgaaggcCtgcgtgggcaccgtggtcag	7	8	16	10	3	1	0	1	0	0	0	2	2	1	1	2	5	2	2	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51022514C>A	ENST00000599957.1	-	3	653	c.456G>T	c.(454-456)caG>caT	p.Q152H	LRRC4B_ENST00000389201.3_Missense_Mutation_p.Q152H			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	152						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		ACTCGAAGGCCTGCGTGGGCA	0.647													A	51022514	C	A	51022514	3	1	364	1	0	0	0	0	1	0	0	0	9077	680	24	4	1689	4	LRRC4B	19	51022514	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	449	51022514	8106469	13868	37370											
SYT3	84258	broad.mit.edu	37	chr19	51132654	51132654	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccgatgaggtcgtgccgcGagaagcggtcaaagtcatag	10	6	16	9	5	2	2	2	1	0	1	3	4	2	2	2	3	2	0	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51132654G>A	ENST00000338916.4	-	4	1811	c.1178C>T	c.(1177-1179)tCg>tTg	p.S393L	SYT3_ENST00000544769.1_Missense_Mutation_p.S393L|SYT3_ENST00000600079.1_Missense_Mutation_p.S393L|SYT3_ENST00000593901.1_Missense_Mutation_p.S393L	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	393	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity	p.S393L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		GTCGTGCCGCGAGAAGCGGTC	0.637													A	51132654	G	A	51132654	3	1	364	1	0	0	0	0	1	0	0	0	15572	1059	37	1	614	1	SYT3	19	51132654	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110140	51132654	7996329	13869	37371											
SHANK1	50944	broad.mit.edu	37	chr19	51169592	51169592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaactgctgaagcttggaGctgagttcactgatgatgct	10	11	11	9	0	1	4	1	4	0	0	1	5	1	5	1	1	5	5	1	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51169592G>T	ENST00000293441.1	-	22	5643	c.5625C>A	c.(5623-5625)agC>agA	p.S1875R	SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000359082.3_Missense_Mutation_p.S1866R|SHANK1_ENST00000391814.1_Missense_Mutation_p.S1883R|SHANK1_ENST00000391813.1_Missense_Mutation_p.S1262R	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1875					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAAGCTTGGAGCTGAGTTCAC	0.697													T	51169592	G	T	51169592	3	4	364	1	0	0	0	0	1	0	0	0	14358	962	34	4	868	4	SHANK1	19	51169592	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36938	51169592	7959391	13870	37372											
SHANK1	50944	broad.mit.edu	37	chr19	51190044	51190044	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctttttctccatgctgggCaccggcgccggctgctgctc	2	11	12	16	4	1	0	0	0	1	0	3	0	1	0	3	3	3	6	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51190044C>T	ENST00000293441.1	-	19	2433	c.2415G>A	c.(2413-2415)gtG>gtA	p.V805V	SHANK1_ENST00000359082.3_Silent_p.V796V|SHANK1_ENST00000391814.1_Silent_p.V813V|SHANK1_ENST00000391813.1_Silent_p.V192V	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	805					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCATGCTGGGCACCGGCGCCG	0.711													T	51190044	C	T	51190044	2	4	364	1	0	0	0	0	0	0	0	1	14358	697	25	2		2	SHANK1	19	51190044	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20452	51190044	7938939	13871	37373											
GPR32	2854	broad.mit.edu	37	chr19	51274083	51274083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcttccgtatggcacgcacgGtctccaccgtctgcttcttc	4	13	8	16	4	4	0	0	0	4	0	7	0	5	0	3	2	1	4	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274083G>A	ENST00000270590.4	+	1	363	c.226G>A	c.(226-228)Gtc>Atc	p.V76I		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	76						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GGCACGCACGGTCTCCACCGT	0.572													A	51274083	G	A	51274083	3	1	364	1	0	0	0	0	1	0	0	0	6742	1261	44	2	228	2	GPR32	19	51274083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84039	51274083	7854900	13872	37374											
GPR32	2854	broad.mit.edu	37	chr19	51274326	51274326	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaccaccgcactgtgcagCgggcgagctggctggccttt	6	8	14	13	3	0	1	0	1	0	0	0	2	0	1	3	3	4	4	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51274326C>T	ENST00000270590.4	+	1	606	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	157						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		CACTGTGCAGCGGGCGAGCTG	0.597													T	51274326	C	T	51274326	3	4	364	1	0	0	0	0	1	0	0	0	6742	759	27	1	471	1	GPR32	19	51274326	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	243	51274326	7854657	13873	37375											
KLK1	3816	broad.mit.edu	37	chr19	51323632	51323632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgggaagctctcactgaCatgaacaaactgggctgtgt	10	10	13	8	0	1	2	1	2	1	0	2	3	1	3	0	2	3	2	0	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51323632C>T	ENST00000301420.2	-	3	309	c.274G>A	c.(274-276)Gtc>Atc	p.V92I	KLK1_ENST00000448701.2_5'UTR	NM_002257.2	NP_002248.1	P06870	KLK1_HUMAN	kallikrein 1	92	Peptidase S1.				proteolysis	nucleus	serine-type endopeptidase activity			breast(1)|large_intestine(4)|lung(7)|urinary_tract(1)	13		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00399)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTCACTGACATGAACAAAC	0.552													T	51323632	C	T	51323632	3	4	364	1	0	0	0	0	1	0	0	0	8455	478	17	2	526	2	KLK1	19	51323632	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49306	51323632	7805351	13874	37376											
KLK4	9622	broad.mit.edu	37	chr19	51411961	51411961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaacttgatgagcatgaGgtcgttagcgagcaagggtc	10	9	14	8	2	0	3	0	3	0	0	3	4	1	3	1	2	4	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51411961G>T	ENST00000324041.1	-	3	348	c.349C>A	c.(349-351)Ctc>Atc	p.L117I	KLK4_ENST00000431178.2_Missense_Mutation_p.L68I	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	117	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		ATGAGCATGAGGTCGTTAGCG	0.597													T	51411961	G	T	51411961	3	4	364	1	0	0	0	0	1	0	0	0	8464	1000	35	4	427	4	KLK4	19	51411961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	88329	51411961	7717022	13875	37377											
KLK4	9622	broad.mit.edu	37	chr19	51412622	51412622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggctgcgagtgcgggctgCagtcctcgccgtttatgatt	5	11	15	10	4	0	1	0	1	0	0	2	2	1	1	2	2	3	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51412622C>T	ENST00000324041.1	-	2	109	c.110G>A	c.(109-111)tGc>tAc	p.C37Y		NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	37	Peptidase S1.				proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGCGGGCTGCAGTCCTCGCC	0.642													T	51412622	C	T	51412622	3	4	364	1	0	0	0	0	1	0	0	0	8464	710	25	2	670	2	KLK4	19	51412622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	661	51412622	7716361	13876	37378											
KLK5	25818	broad.mit.edu	37	chr19	51452340	51452340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agattcataaactggtgacaGggagtagtggccgagacgga	13	7	15	6	2	1	3	1	1	0	2	1	6	1	5	1	4	1	1	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51452340G>T	ENST00000336334.3	-	4	719	c.367C>A	c.(367-369)Ctg>Atg	p.L123M	KLK5_ENST00000593428.1_Missense_Mutation_p.L123M|KLK5_ENST00000391809.2_Missense_Mutation_p.L123M	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	123	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACTGGTGACAGGGAGTAGTGG	0.562													T	51452340	G	T	51452340	3	4	364	1	0	0	0	0	1	0	0	0	8465	991	35	4	526	4	KLK5	19	51452340	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39718	51452340	7676643	13877	37379											
KLK11	11012	broad.mit.edu	37	chr19	51527961	51527961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgccccacagagtagccGcgtcttctcgaacagggctg	7	7	12	15	5	2	1	0	0	2	1	4	2	2	1	3	1	2	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51527961G>A	ENST00000594768.1	-	3	411	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	KLK11_ENST00000453757.3_Missense_Mutation_p.R44W|KLK11_ENST00000391804.3_Missense_Mutation_p.R44W|KLK11_ENST00000319720.7_Missense_Mutation_p.R44W|KLK11_ENST00000594458.1_5'UTR|KLK11_ENST00000600362.1_Intron	NM_144947.1	NP_659196.1	Q9UBX7	KLK11_HUMAN	kallikrein-related peptidase 11	76	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|GBM - Glioblastoma multiforme(134;0.00878)		CAGAGTAGCCGCGTCTTCTCG	0.682													A	51527961	G	A	51527961	3	1	364	1	0	0	0	0	1	0	0	0	8457	1086	38	1	713	1	KLK11	19	51527961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75621	51527961	7601022	13878	37380											
KLK13	26085	broad.mit.edu	37	chr19	51559997	51559997	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagacgatgccatacagTgttctgttacagaccagggg	11	8	13	9	1	1	2	0	0	1	2	1	4	1	2	2	3	3	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51559997T>C	ENST00000595793.1	-	5	723	c.681A>G	c.(679-681)acA>acG	p.T227T	KLK13_ENST00000595547.1_Silent_p.T154T|KLK13_ENST00000335422.3_Silent_p.T75T	NM_015596.1	NP_056411.1	Q9UKR3	KLK13_HUMAN	kallikrein-related peptidase 13	227	Peptidase S1.				proteolysis		protein binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	16		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00224)|GBM - Glioblastoma multiforme(134;0.00432)		TGCCATACAGTGTTCTGTTAC	0.572													C	51559997	T	C	51559997	2	2	364	1	0	0	0	0	0	0	0	1	8459	1683	59	3		3	KLK13	19	51559997	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	32036	51559997	7568986	13879	37381											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628933	51628933	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgacctgctctgtgccCtgggcctgtgagcaggggac	6	9	14	12	0	2	2	0	2	2	0	2	3	2	3	3	3	3	2	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51628933C>A	ENST00000440804.3	+	2	568	c.501C>A	c.(499-501)ccC>ccA	p.P167P	SIGLEC9_ENST00000250360.3_Silent_p.P167P	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	167	Ig-like C2-type 1.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GCTCTGTGCCCTGGGCCTGTG	0.657													A	51628933	C	A	51628933	2	1	364	1	0	0	0	0	0	0	0	1	14409	668	24	4		4	SIGLEC9	19	51628933	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68936	51628933	7500050	13880	37382											
CD33	945	broad.mit.edu	37	chr19	51728765	51728765	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatcgtagacgccaggaGgagggataatggttcatact	12	8	14	7	2	1	1	1	0	0	1	2	5	1	4	1	4	2	3	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51728765G>T	ENST00000262262.4	+	2	350	c.329G>T	c.(328-330)aGg>aTg	p.R110M	CD33_ENST00000436584.2_Intron|CD33_ENST00000421133.2_Intron|CD33_ENST00000391796.3_Missense_Mutation_p.R110M	NM_001772.3	NP_001763.3	P20138	CD33_HUMAN	CD33 molecule	110	Ig-like V-type.				cell adhesion|cell-cell signaling|negative regulation of cell proliferation	external side of plasma membrane|integral to plasma membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(15)|skin(1)|stomach(1)	24		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000224)|OV - Ovarian serous cystadenocarcinoma(262;0.00468)	Gemtuzumab ozogamicin(DB00056)	GACGCCAGGAGGAGGGATAAT	0.512													T	51728765	G	T	51728765	3	4	364	1	0	0	0	0	1	0	0	0	3035	1000	35	4	335	4	CD33	19	51728765	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99832	51728765	7400218	13881	37383											
IGLON5	402665	broad.mit.edu	37	chr19	51828610	51828610	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccgcagtccctgcccgCattgtgaacatctcgtcgcc	5	9	9	18	4	1	1	0	1	1	0	4	1	2	1	4	0	3	2	4	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51828610C>T	ENST00000270642.8	+	4	402	c.402C>T	c.(400-402)cgC>cgT	p.R134R		NM_001101372.1	NP_001094842.1	A6NGN9	IGLO5_HUMAN	IgLON family member 5	134	Ig-like C2-type 2.					extracellular region				large_intestine(5)|lung(6)|prostate(1)	12						TCCCTGCCCGCATTGTGAACA	0.647													T	51828610	C	T	51828610	2	4	364	1	0	0	0	0	0	0	0	1	7653	697	25	2		2	IGLON5	19	51828610	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99845	51828610	7300373	13882	37384											
CLDND2	125875	broad.mit.edu	37	chr19	51871826	51871826	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctggaggctccgcttcacCcccatgccactgaggctgca	6	8	10	17	1	2	1	1	1	1	0	3	2	3	2	4	3	2	4	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51871826C>T	ENST00000291715.1	-	1	431	c.6G>A	c.(4-6)ggG>ggA	p.G2G	CLDND2_ENST00000601435.1_Silent_p.G2G	NM_152353.2	NP_689566.1	Q8NHS1	CLDN2_HUMAN	claudin domain containing 2	2						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)	4		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000211)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCCGCTTCACCCCCATGCCAC	0.672													T	51871826	C	T	51871826	2	4	364	1	0	0	0	0	0	0	0	1	3525	610	22	2		2	CLDND2	19	51871826	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43216	51871826	7257157	13883	37385											
SIGLEC8	27181	broad.mit.edu	37	chr19	51955822	51955822	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccttcctcccctgacgaGggggcaacagctgggggagg	6	7	15	13	1	1	1	0	1	1	0	4	3	3	2	4	5	2	2	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51955822G>T	ENST00000321424.3	-	7	1377	c.1311C>A	c.(1309-1311)ccC>ccA	p.P437P	SIGLEC8_ENST00000430817.1_Silent_p.P328P|SIGLEC8_ENST00000340550.5_Silent_p.P344P	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	437					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCCCTGACGAGGGGGCAACAG	0.572													T	51955822	G	T	51955822	2	4	364	1	0	0	0	0	0	0	0	1	14408	987	35	4		4	SIGLEC8	19	51955822	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	83996	51955822	7173161	13884	37386											
SIGLEC8	27181	broad.mit.edu	37	chr19	51958020	51958020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccagtgtcacttgtgataCaggtcttgaggtgcctgcag	7	12	13	9	0	2	2	1	2	1	0	2	2	2	2	2	2	4	1	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958020C>T	ENST00000321424.3	-	5	1132	c.1066G>A	c.(1066-1068)Gta>Ata	p.V356I	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.V247I|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.V263I	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	356					cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		ACTTGTGATACAGGTCTTGAG	0.557													T	51958020	C	T	51958020	3	4	364	1	0	0	0	0	1	0	0	0	14408	478	17	2	445	2	SIGLEC8	19	51958020	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2198	51958020	7170963	13885	37387											
SIGLEC8	27181	broad.mit.edu	37	chr19	51958909	51958909	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggccctcaaggactgAaagagatgagccatttccca	13	7	10	11	0	1	4	1	2	0	2	2	6	2	5	3	2	1	0	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51958909A>C	ENST00000321424.3	-	4	880	c.814T>G	c.(814-816)Tca>Gca	p.S272A	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.S163A|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.S179A|SIGLEC8_ENST00000597352.1_5'UTR	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	272	Ig-like C2-type 2.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		TCAAGGACTGAAAGAGATGAG	0.562													C	51958909	A	C	51958909	3	2	364	1	0	0	0	0	1	0	0	0	14408	246	9	5	701	5	SIGLEC8	19	51958909	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	889	51958909	7170074	13886	37388											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961369	51961369	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggaatcggccctgggtCtctgcctgcacttctctgtc	4	13	11	13	1	2	0	0	0	2	0	6	1	2	1	2	3	2	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961369C>A	ENST00000321424.3	-	1	339	c.273G>T	c.(271-273)gaG>gaT	p.E91D	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.E91D|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.E91D	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	91	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GGCCCTGGGTCTCTGCCTGCA	0.552													A	51961369	C	A	51961369	3	1	364	1	0	0	0	0	1	0	0	0	14408	912	32	4	1254	4	SIGLEC8	19	51961369	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2460	51961369	7167614	13887	37389											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961460	51961460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccagtagccatgaactGggtcagagtcagtccagcca	12	6	12	11	0	2	2	2	1	0	1	3	3	3	3	4	2	4	1	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:51961460G>A	ENST00000321424.3	-	1	248	c.182C>T	c.(181-183)cCa>cTa	p.P61L	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.P61L|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.P61L	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	61	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		GCCATGAACTGGGTCAGAGTC	0.602													A	51961460	G	A	51961460	3	1	364	1	0	0	0	0	1	0	0	0	14408	1348	47	2	1345	2	SIGLEC8	19	51961460	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91	51961460	7167523	13888	37390											
SIGLEC12	89858	broad.mit.edu	37	chr19	52004674	52004674	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggtgtctctgatgctcaggGtacaatccttgttctgtggg	5	15	13	8	0	3	1	1	1	2	0	5	1	4	1	1	3	2	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52004674G>A	ENST00000291707.3	-	1	369	c.314C>T	c.(313-315)aCc>aTc	p.T105I		NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	105	Ig-like V-type 1.				cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GATGCTCAGGGTACAATCCTT	0.498													A	52004674	G	A	52004674	3	1	364	1	0	0	0	0	1	0	0	0	14402	1261	44	2	1578	2	SIGLEC12	19	52004674	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43214	52004674	7124309	13889	37391											
SIGLEC6	946	broad.mit.edu	37	chr19	52032990	52032990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acactcacaatgcacaaagaGactcagagagatttgcaggg	16	6	10	9	0	2	3	2	0	0	3	2	5	2	3	0	1	2	2	0	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52032990G>A	ENST00000346477.3	-	4	1020	c.952C>T	c.(952-954)Ctc>Ttc	p.L318F	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.L334F|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.L282F|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.L334F|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.L345F|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.L323F	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	334	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		TGCACAAAGAGACTCAGAGAG	0.577													A	52032990	G	A	52032990	3	1	364	1	0	0	0	0	1	0	0	0	14406	942	33	2	377	2	SIGLEC6	19	52032990	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28316	52032990	7095993	13890	37392											
ZNF175	7728	broad.mit.edu	37	chr19	52091117	52091117	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgactgtggaaaaacCttcacccaaaagtcacacct	14	8	7	12	0	2	1	2	1	0	0	2	2	2	2	3	1	2	1	3	1	4	1	rs140917490		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091117C>A	ENST00000262259.2	+	5	1891	c.1533C>A	c.(1531-1533)acC>acA	p.T511T	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	511					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGAAAAACCTTCACCCAAA	0.413													A	52091117	C	A	52091117	2	1	364	1	0	0	0	0	0	0	0	1	17846	668	24	4		4	ZNF175	19	52091117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58127	52091117	7037866	13891	37393											
ZNF175	7728	broad.mit.edu	37	chr19	52091537	52091537	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccttgactgtgggaaatcGttcagtaagaaaccacaact	13	10	9	9	1	1	2	1	1	0	1	2	3	1	3	2	1	3	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52091537G>A	ENST00000262259.2	+	5	2311	c.1953G>A	c.(1951-1953)tcG>tcA	p.S651S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	651					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GTGGGAAATCGTTCAGTAAGA	0.438													A	52091537	G	A	52091537	2	1	364	1	0	0	0	0	0	0	0	1	17846	1132	40	1		1	ZNF175	19	52091537	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	420	52091537	7037446	13892	37394											
FPR2	2358	broad.mit.edu	37	chr19	52272593	52272593	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggctcattgcagccaagAtccacaaaaagggcatgatt	14	8	10	9	0	1	2	1	1	0	1	2	2	2	2	2	2	2	3	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52272593A>C	ENST00000598776.1	+	2	1454	c.682A>C	c.(682-684)Atc>Ctc	p.I228L	FPR2_ENST00000598953.1_Missense_Mutation_p.I228L|FPR2_ENST00000340023.6_Missense_Mutation_p.I228L	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	228					cell adhesion|cellular component movement|chemotaxis|inflammatory response	integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						TGCAGCCAAGATCCACAAAAA	0.493													C	52272593	A	C	52272593	3	2	364	1	0	0	0	0	1	0	0	0	6090	333	12	5	684	5	FPR2	19	52272593	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	181056	52272593	6856390	13893	37395											
FPR3	2359	broad.mit.edu	37	chr19	52327770	52327770	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcatctgttggttccctTatgaactaattggcattcta	8	18	6	9	0	4	1	1	1	3	0	5	1	5	1	1	2	1	3	1	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52327770T>C	ENST00000339223.4	+	2	948	c.769T>C	c.(769-771)Tat>Cat	p.Y257H	FPR3_ENST00000595991.1_Missense_Mutation_p.Y257H	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	257					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TTGGTTCCCTTATGAACTAAT	0.423													C	52327770	T	C	52327770	3	2	364	1	0	0	0	0	1	0	0	0	6091	1754	61	3	771	3	FPR3	19	52327770	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	55177	52327770	6801213	13894	37396											
ZNF577	84765	broad.mit.edu	37	chr19	52376558	52376558	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctctgatggaccatgaGctgtgactttctggagaagg	8	12	14	7	0	2	4	0	3	2	1	3	6	2	5	1	4	1	2	1	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376558G>T	ENST00000420592.1	-	6	1841	c.508C>A	c.(508-510)Ctc>Atc	p.L170I	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.L170I|ZNF577_ENST00000301399.5_Missense_Mutation_p.L229I|ZNF577_ENST00000412216.1_Intron			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	229					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TGGACCATGAGCTGTGACTTT	0.498													T	52376558	G	T	52376558	3	4	364	1	0	0	0	0	1	0	0	0	18110	971	34	4	776	4	ZNF577	19	52376558	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48788	52376558	6752425	13895	37397											
ZNF577	84765	broad.mit.edu	37	chr19	52376920	52376920	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatccaccaaatgcatcaGaatcttttcctgcatatctt	12	14	3	12	0	3	1	1	0	2	1	5	1	5	1	3	0	2	2	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52376920G>T	ENST00000301399.5	-	7	688	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000420592.1_Intron|ZNF577_ENST00000451628.2_Intron|ZNF577_ENST00000412216.1_Intron	NM_032679.2	NP_116068.2	Q9BSK1	ZN577_HUMAN	zinc finger protein 577	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAATGCATCAGAATCTTTTCC	0.378													T	52376920	G	T	52376920	3	4	364	1	0	0	0	0	1	0	0	0	18110	942	33	4	1138	4	ZNF577	19	52376920	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362	52376920	6752063	13896	37398											
ZNF649	65251	broad.mit.edu	37	chr19	52394115	52394115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatagggtctctctcccGtgtgagttctgtgatgtaca	7	13	11	10	1	3	2	0	2	3	0	5	2	3	2	2	1	2	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394115G>A	ENST00000354957.3	-	5	1558	c.1274C>T	c.(1273-1275)aCg>aTg	p.T425M	ZNF649_ENST00000600738.1_Missense_Mutation_p.T397M|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	425					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TCTCTCTCCCGTGTGAGTTCT	0.433													A	52394115	G	A	52394115	3	1	364	1	0	0	0	0	1	0	0	0	18165	1145	40	1	247	1	ZNF649	19	52394115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17195	52394115	6734868	13897	37399											
ZNF649	65251	broad.mit.edu	37	chr19	52394292	52394292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctttcctgtatgatatCtctgatgtgctacaaggcaa	10	14	9	8	0	2	2	0	2	2	0	4	3	3	2	1	1	2	3	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52394292C>A	ENST00000354957.3	-	5	1381	c.1097G>T	c.(1096-1098)aGa>aTa	p.R366I	ZNF649_ENST00000600738.1_Missense_Mutation_p.R338I|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	366					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		TGTATGATATCTCTGATGTGC	0.453													A	52394292	C	A	52394292	3	1	364	1	0	0	0	0	1	0	0	0	18165	913	32	4	424	4	ZNF649	19	52394292	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	177	52394292	6734691	13898	37400											
ZNF613	79898	broad.mit.edu	37	chr19	52448086	52448086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacaggagagaaaccacatgGatgcagcctgtgtgggaagg	13	6	15	7	0	0	1	0	0	0	1	0	5	0	4	2	4	4	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448086G>A	ENST00000293471.6	+	6	1629	c.950G>A	c.(949-951)gGa>gAa	p.G317E	ZNF613_ENST00000391794.4_Missense_Mutation_p.G281E	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	317					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACATGGATGCAGCCTG	0.458													A	52448086	G	A	52448086	3	1	364	1	0	0	0	0	1	0	0	0	18139	1174	41	2	964	2	ZNF613	19	52448086	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53794	52448086	6680897	13899	37401											
ZNF613	79898	broad.mit.edu	37	chr19	52448197	52448197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaatgtgacaaagcattccGctggaaatcacagctcaatg	14	9	9	9	1	2	2	2	2	0	0	3	3	3	3	1	1	2	3	1	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448197G>A	ENST00000293471.6	+	6	1740	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H	ZNF613_ENST00000601794.1_3'UTR|ZNF613_ENST00000391794.4_Missense_Mutation_p.R318H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAAGCATTCCGCTGGAAATCA	0.458													A	52448197	G	A	52448197	3	1	364	1	0	0	0	0	1	0	0	0	18139	1087	38	1	1075	1	ZNF613	19	52448197	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111	52448197	6680786	13900	37402											
ZNF613	79898	broad.mit.edu	37	chr19	52448941	52448941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagccattgtgagccagcCtgttgccagaagttcagtct	9	11	11	10	0	2	2	1	1	1	1	2	2	2	2	4	0	4	3	4	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52448941C>A	ENST00000293471.6	+	6	2484	c.1805C>A	c.(1804-1806)cCt>cAt	p.P602H	ZNF613_ENST00000601794.1_Intron|ZNF613_ENST00000391794.4_Missense_Mutation_p.P566H	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	602					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		GTGAGCCAGCCTGTTGCCAGA	0.438													A	52448941	C	A	52448941	3	1	364	1	0	0	0	0	1	0	0	0	18139	681	24	4	1819	4	ZNF613	19	52448941	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	744	52448941	6680042	13901	37403											
ZNF350	59348	broad.mit.edu	37	chr19	52468952	52468952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtatgagttcgctgatGttcagtaagcatgaactttc	9	15	9	8	1	1	3	1	3	0	0	4	3	2	3	1	0	2	6	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52468952G>A	ENST00000243644.4	-	5	981	c.754C>T	c.(754-756)Cat>Tat	p.H252Y	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	252					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		GTTCGCTGATGTTCAGTAAGC	0.428													A	52468952	G	A	52468952	3	1	364	1	0	0	0	0	1	0	0	0	17964	1377	48	2	848	2	ZNF350	19	52468952	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20011	52468952	6660031	13902	37404											
ZNF615	284370	broad.mit.edu	37	chr19	52497112	52497112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcttcattgaaaagccttttCcacattcactacatgtatat	12	15	4	10	0	2	1	2	1	0	0	3	1	3	1	2	0	2	2	2	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497112C>T	ENST00000602063.1	-	6	1566	c.1217G>A	c.(1216-1218)gGa>gAa	p.G406E	ZNF615_ENST00000598071.1_Missense_Mutation_p.G417E|ZNF615_ENST00000376716.5_Missense_Mutation_p.G406E|ZNF615_ENST00000594083.1_Missense_Mutation_p.G417E|ZNF615_ENST00000391795.3_Missense_Mutation_p.G411E			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		AAAGCCTTTTCCACATTCACT	0.388													T	52497112	C	T	52497112	3	4	364	1	0	0	0	0	1	0	0	0	18141	855	30	2	982	2	ZNF615	19	52497112	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28160	52497112	6631871	13903	37405											
ZNF615	284370	broad.mit.edu	37	chr19	52497775	52497775	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactgggacttattaataGgttttgcaattgcaggaaac	13	13	10	5	0	0	1	0	1	0	0	0	3	0	3	0	3	4	3	0	3	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52497775G>T	ENST00000602063.1	-	6	903	c.554C>A	c.(553-555)cCt>cAt	p.P185H	ZNF615_ENST00000598071.1_Missense_Mutation_p.P196H|ZNF615_ENST00000376716.5_Missense_Mutation_p.P185H|ZNF615_ENST00000594083.1_Missense_Mutation_p.P196H|ZNF615_ENST00000391795.3_Missense_Mutation_p.P190H			Q8N8J6	ZN615_HUMAN	zinc finger protein 615	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(5)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	42		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00142)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		CTTATTAATAGGTTTTGCAAT	0.373													T	52497775	G	T	52497775	3	4	364	1	0	0	0	0	1	0	0	0	18141	1000	35	4	1645	4	ZNF615	19	52497775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	663	52497775	6631208	13904	37406											
ZNF432	9668	broad.mit.edu	37	chr19	52537990	52537990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactacatatataggatttCtctccagtatgatttcgctg	10	16	6	9	1	2	1	1	1	1	0	5	2	3	2	1	1	1	2	1	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52537990C>A	ENST00000594154.1	-	5	1154	c.942G>T	c.(940-942)gaG>gaT	p.E314D	ZNF432_ENST00000221315.5_Missense_Mutation_p.E314D			O94892	ZN432_HUMAN	zinc finger protein 432	314					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TATAGGATTTCTCTCCAGTAT	0.418													A	52537990	C	A	52537990	3	1	364	1	0	0	0	0	1	0	0	0	18007	912	32	4	1020	4	ZNF432	19	52537990	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40215	52537990	6590993	13905	37407											
ZNF841	284371	broad.mit.edu	37	chr19	52569224	52569224	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatgacgtgctaggcatgaGtagtaactgaagaccttgcc	11	9	12	9	2	0	4	0	3	0	1	0	5	0	4	2	1	3	4	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569224G>T	ENST00000389534.4	-	7	2370	c.1911C>A	c.(1909-1911)taC>taA	p.Y637*	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Nonsense_Mutation_p.Y637*|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000426391.2_Nonsense_Mutation_p.Y521*	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						CTAGGCATGAGTAGTAACTGA	0.433													T	52569224	G	T	52569224	4	4	364	1	0	0	0	0	0	1	0	0	18288	1024	36	4	867	4	ZNF841	19	52569224	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31234	52569224	6559759	13906	37408											
ZNF841	284371	broad.mit.edu	37	chr19	52569880	52569880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcatggattatatgatGtgcagtgaggcttgagttcc	8	14	12	7	0	0	3	0	3	0	0	2	4	2	4	2	2	2	4	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52569880G>A	ENST00000389534.4	-	7	1714	c.1255C>T	c.(1255-1257)Cat>Tat	p.H419Y	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.H419Y|ZNF841_ENST00000359973.2_Missense_Mutation_p.H303Y|ZNF841_ENST00000426391.2_Missense_Mutation_p.H303Y	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						ATTATATGATGTGCAGTGAGG	0.388													A	52569880	G	A	52569880	3	1	364	1	0	0	0	0	1	0	0	0	18288	1377	48	2	1523	2	ZNF841	19	52569880	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	656	52569880	6559103	13907	37409											
ZNF841	284371	broad.mit.edu	37	chr19	52570128	52570128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctccagtgtgacttctcCggtgatttacaagatctgaa	9	14	9	9	1	3	4	0	3	3	1	5	4	3	4	2	1	1	0	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52570128C>T	ENST00000389534.4	-	7	1466	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.R336Q|ZNF841_ENST00000359973.2_Missense_Mutation_p.R220Q|ZNF841_ENST00000426391.2_Missense_Mutation_p.R220Q	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GTGACTTCTCCGGTGATTTAC	0.403													T	52570128	C	T	52570128	3	4	364	1	0	0	0	0	1	0	0	0	18288	652	23	1	1771	1	ZNF841	19	52570128	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248	52570128	6558855	13908	37410											
ZNF616	90317	broad.mit.edu	37	chr19	52618207	52618207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttttgccagaatgaattCtttggtgtttgctgagggaa	8	17	12	4	0	1	3	0	2	1	1	1	4	1	4	1	2	2	3	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52618207C>T	ENST00000600228.1	-	4	2471	c.2210G>A	c.(2209-2211)aGa>aAa	p.R737K	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	737					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGAATGAATTCTTTGGTGTTT	0.398													T	52618207	C	T	52618207	3	4	364	1	0	0	0	0	1	0	0	0	18142	913	32	2	139	2	ZNF616	19	52618207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48079	52618207	6510776	13909	37411											
ZNF836	162962	broad.mit.edu	37	chr19	52660166	52660166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatagttagtagtgagcccCgatgaaaggctttgccacat	11	11	11	8	1	0	2	0	2	0	0	0	3	0	2	3	1	2	4	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52660166C>T	ENST00000322146.8	-	5	1291	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	ZNF836_ENST00000597252.1_Missense_Mutation_p.R257Q|CTC-471J1.8_ENST00000594362.1_RNA	NM_001102657.1	NP_001096127.1	Q6ZNA1	ZN836_HUMAN	zinc finger protein 836	257					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						TAGTGAGCCCCGATGAAAGGC	0.403													T	52660166	C	T	52660166	3	4	364	1	0	0	0	0	1	0	0	0	18286	652	23	1	2042	1	ZNF836	19	52660166	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41959	52660166	6468817	13910	37412											
ZNF766	90321	broad.mit.edu	37	chr19	52785424	52785424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaggagtggaaatgcctgGaccctgtgcagaaggcttta	11	8	15	7	0	0	1	0	0	0	1	0	5	0	5	2	5	2	2	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52785424G>T	ENST00000439461.1	+	2	122	c.79G>T	c.(79-81)Gac>Tac	p.D27Y	ZNF766_ENST00000593612.1_Missense_Mutation_p.D42Y|ZNF766_ENST00000600821.1_Missense_Mutation_p.D22Y|ZNF766_ENST00000599581.1_Missense_Mutation_p.D27Y|ZNF766_ENST00000359102.4_Missense_Mutation_p.D42Y	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		GAAATGCCTGGACCCTGTGCA	0.488													T	52785424	G	T	52785424	3	4	364	1	0	0	0	0	1	0	0	0	18240	1174	41	4	85	4	ZNF766	19	52785424	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	125258	52785424	6343559	13911	37413											
ZNF766	90321	broad.mit.edu	37	chr19	52793382	52793382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacaaatcaacttggattaaCctttcagttacctctgccag	12	13	5	11	0	3	0	2	0	1	0	3	1	3	1	3	1	5	1	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52793382C>T	ENST00000439461.1	+	4	381	c.338C>T	c.(337-339)aCc>aTc	p.T113I	CTD-2525I3.5_ENST00000594865.1_RNA|ZNF766_ENST00000593612.1_Missense_Mutation_p.T128I|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Missense_Mutation_p.T128I	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		CTTGGATTAACCTTTCAGTTA	0.393													T	52793382	C	T	52793382	3	4	364	1	0	0	0	0	1	0	0	0	18240	507	18	2	352	2	ZNF766	19	52793382	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7958	52793382	6335601	13912	37414											
ZNF480	147657	broad.mit.edu	37	chr19	52825153	52825153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctttagagtatcttccaGccttactaaacatcaagtaa	14	13	5	9	0	3	1	1	0	2	1	4	1	4	1	2	0	3	2	2	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52825153G>T	ENST00000595962.1	+	5	716	c.650G>T	c.(649-651)aGc>aTc	p.S217I	CTD-2525I3.6_ENST00000594379.1_RNA|ZNF480_ENST00000334564.7_Missense_Mutation_p.S174I|ZNF480_ENST00000490272.1_3'UTR|ZNF480_ENST00000335090.6_Missense_Mutation_p.S140I	NM_144684.2	NP_653285.2	Q8WV37	ZN480_HUMAN	zinc finger protein 480	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(134;0.00212)|OV - Ovarian serous cystadenocarcinoma(262;0.00369)		GTATCTTCCAGCCTTACTAAA	0.363													T	52825153	G	T	52825153	3	4	364	1	0	0	0	0	1	0	0	0	18036	971	34	4	664	4	ZNF480	19	52825153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31771	52825153	6303830	13913	37415											
ZNF880	400713	broad.mit.edu	37	chr19	52887684	52887684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcaaaattctcaccttgCaaatcatcacagaatccaca	16	9	2	14	0	4	1	4	0	1	1	6	1	5	1	2	0	1	1	2	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52887684C>T	ENST00000422689.2	+	4	866	c.851C>T	c.(850-852)gCa>gTa	p.A284V		NM_001145434.1	NP_001138906.1	Q6PDB4	ZN880_HUMAN	zinc finger protein 880	284					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						TCTCACCTTGCAAATCATCAC	0.408													T	52887684	C	T	52887684	3	4	364	1	0	0	0	0	1	0	0	0	18296	710	25	2	865	2	ZNF880	19	52887684	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62531	52887684	6241299	13914	37416											
ZNF528	84436	broad.mit.edu	37	chr19	52909181	52909181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccttgaaattcatggatGtggccatagagttctctcag	10	12	10	9	0	3	2	2	1	1	1	4	4	3	3	2	2	0	1	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909181G>A	ENST00000391788.2	+	5	530	c.7G>A	c.(7-9)Gtg>Atg	p.V3M	ZNF528_ENST00000360465.3_Missense_Mutation_p.V13M|ZNF528_ENST00000594530.1_Missense_Mutation_p.V13M|ZNF528_ENST00000598192.1_Missense_Mutation_p.V13M			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		ATTCATGGATGTGGCCATAGA	0.458													A	52909181	G	A	52909181	3	1	364	1	0	0	0	0	1	0	0	0	18070	1377	48	2	43	2	ZNF528	19	52909181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21497	52909181	6219802	13915	37417											
ZNF528	84436	broad.mit.edu	37	chr19	52909767	52909767	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattctttcttttataaataGgaatctgtcttcctgacctg	9	19	5	8	0	4	1	0	1	4	0	5	2	5	2	2	1	0	0	2	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909767G>T	ENST00000391788.2	+	6	635		c.e6-1		ZNF528_ENST00000360465.3_Splice_Site|ZNF528_ENST00000594530.1_Splice_Site|ZNF528_ENST00000598192.1_Splice_Site			Q3MIS6	ZN528_HUMAN	zinc finger protein 528						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.?(1)		breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		TTTATAAATAGGAATCTGTCT	0.403													T	52909767	G	T	52909767	5	4	364	1	0	0	0	0	0	0	1	0	18070	1014	35	4	152	4	ZNF528	19	52909767	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	586	52909767	6219216	13916	37418											
ZNF528	84436	broad.mit.edu	37	chr19	52909844	52909844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactctgcagagtgaagaGaaaatagcaaacgatccaga	17	6	11	7	1	1	4	0	1	1	3	2	7	2	5	1	1	3	2	1	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52909844G>T	ENST00000391788.2	+	6	712	c.189G>T	c.(187-189)gaG>gaT	p.E63D	ZNF528_ENST00000360465.3_Missense_Mutation_p.E73D|ZNF528_ENST00000594530.1_Missense_Mutation_p.E73D|ZNF528_ENST00000598192.1_Missense_Mutation_p.E73D			Q3MIS6	ZN528_HUMAN	zinc finger protein 528	73	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGAGTGAAGAGAAAATAGCAA	0.443													T	52909844	G	T	52909844	3	4	364	1	0	0	0	0	1	0	0	0	18070	933	33	4	229	4	ZNF528	19	52909844	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77	52909844	6219139	13917	37419											
ZNF528	84436	broad.mit.edu	37	chr19	52918740	52918740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccataacgcagataatcCttacaaatgcagtgaatgtg	16	10	7	8	1	0	2	0	1	0	1	2	2	2	2	2	0	3	2	2	0	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:52918740C>A	ENST00000360465.3	+	7	1061	c.635C>A	c.(634-636)cCt>cAt	p.P212H	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	212					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		GCAGATAATCCTTACAAATGC	0.398													A	52918740	C	A	52918740	3	1	364	1	0	0	0	0	1	0	0	0	18070	681	24	4	649	4	ZNF528	19	52918740	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8896	52918740	6210243	13918	37420											
ZNF578	147660	broad.mit.edu	37	chr19	53007958	53007958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaattctcattggcagagtgGaaattcctgaaccctgcgca	11	10	10	10	1	1	2	1	1	1	1	3	4	2	3	2	2	2	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53007958G>T	ENST00000421239.2	+	5	358	c.114G>T	c.(112-114)tgG>tgT	p.W38C		NM_001099694.1	NP_001093164.1	Q96N58	ZN578_HUMAN	zinc finger protein 578	0					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding								GBM - Glioblastoma multiforme(134;0.00819)|OV - Ovarian serous cystadenocarcinoma(262;0.01)		TGGCAGAGTGGAAATTCCTGA	0.458													T	53007958	G	T	53007958	3	4	364	1	0	0	0	0	1	0	0	0	18111	1183	41	4	120	4	ZNF578	19	53007958	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	89218	53007958	6121025	13919	37421											
ZNF808	388558	broad.mit.edu	37	chr19	53050821	53050821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattggcagagtggaaattCctgaaccctgcacagagggc	11	8	12	10	0	1	3	1	1	0	2	2	4	2	4	2	3	2	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53050821C>A	ENST00000359798.4	+	4	300	c.120C>A	c.(118-120)ttC>ttA	p.F40L		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	40	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		AGTGGAAATTCCTGAACCCTG	0.453													A	53050821	C	A	53050821	3	1	364	1	0	0	0	0	1	0	0	0	18272	854	30	4	126	4	ZNF808	19	53050821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42863	53050821	6078162	13920	37422											
ZNF808	388558	broad.mit.edu	37	chr19	53057913	53057913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttaatcaacaatcacatCtttcacgtcatcgtagactt	12	15	3	11	2	5	1	4	0	1	1	6	1	5	1	0	0	1	1	0	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53057913C>A	ENST00000359798.4	+	5	1924	c.1744C>A	c.(1744-1746)Ctt>Att	p.L582I		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	582					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		ACAATCACATCTTTCACGTCA	0.383													A	53057913	C	A	53057913	3	1	364	1	0	0	0	0	1	0	0	0	18272	913	32	4	1754	4	ZNF808	19	53057913	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7092	53057913	6071070	13921	37423											
ZNF701	55762	broad.mit.edu	37	chr19	53085781	53085781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtgcacatatttcaccccGaagggaaaattggtaatcaa	16	9	8	8	1	2	0	2	0	0	0	2	2	2	1	2	2	1	2	2	2	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53085781G>A	ENST00000540331.1	+	5	892	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.E157K|ZNF701_ENST00000301093.2_Missense_Mutation_p.E223K	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	157					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.E157K(1)		endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		ATTTCACCCCGAAGGGAAAAT	0.413													A	53085781	G	A	53085781	3	1	364	1	0	0	0	0	1	0	0	0	18206	1059	37	1	681	1	ZNF701	19	53085781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27868	53085781	6043202	13922	37424											
ZNF83	55769	broad.mit.edu	37	chr19	53117236	53117236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggtatgaattctttgatgTtgtgcaaggtgtgaaatttg	9	16	12	4	1	1	3	0	3	1	0	1	3	1	3	1	2	1	3	1	2	4	5	rs144975187		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53117236T>G	ENST00000597597.1	-	2	2835	c.582A>C	c.(580-582)caA>caC	p.Q194H	ZNF83_ENST00000391789.4_Missense_Mutation_p.Q194H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000301096.3_Missense_Mutation_p.Q194H|ZNF83_ENST00000541777.2_Missense_Mutation_p.Q194H|ZNF83_ENST00000544146.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000545872.1_Missense_Mutation_p.Q194H|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000536937.1_Missense_Mutation_p.Q194H			P51522	ZNF83_HUMAN	zinc finger protein 83	194						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TTCTTTGATGTTGTGCAAGGT	0.378													G	53117236	T	G	53117236	3	3	364	1	0	0	0	0	1	0	0	0	18282	1722	60	5	972	5	ZNF83	19	53117236	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	31455	53117236	6011747	13923	37425											
ZNF611	81856	broad.mit.edu	37	chr19	53208596	53208596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgactgaaggtcttgctgCactcattacacttgtaaggt	9	14	10	8	0	2	2	1	2	1	0	2	2	2	2	0	2	3	3	0	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53208596C>T	ENST00000543227.1	-	6	1986	c.1712G>A	c.(1711-1713)tGc>tAc	p.C571Y	ZNF611_ENST00000595798.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000540744.1_Missense_Mutation_p.C571Y|ZNF611_ENST00000453741.2_Missense_Mutation_p.C502Y|ZNF611_ENST00000602162.1_Missense_Mutation_p.C502Y|ZNF611_ENST00000319783.1_Missense_Mutation_p.C571Y	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	571					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		GGTCTTGCTGCACTCATTACA	0.408													T	53208596	C	T	53208596	3	4	364	1	0	0	0	0	1	0	0	0	18138	710	25	2	409	2	ZNF611	19	53208596	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91360	53208596	5920387	13924	37426											
ZNF611	81856	broad.mit.edu	37	chr19	53209369	53209369	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcattacaattgtaacgTtttactccagtatgaagtct	12	15	5	9	1	2	1	1	1	1	0	3	1	3	1	1	0	3	3	1	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53209369T>C	ENST00000543227.1	-	6	1213	c.939A>G	c.(937-939)aaA>aaG	p.K313K	ZNF611_ENST00000595798.1_Silent_p.K244K|ZNF611_ENST00000540744.1_Silent_p.K313K|ZNF611_ENST00000453741.2_Silent_p.K244K|ZNF611_ENST00000602162.1_Silent_p.K244K|ZNF611_ENST00000319783.1_Silent_p.K313K	NM_001161499.1	NP_001154971.1	Q8N823	ZN611_HUMAN	zinc finger protein 611	313					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		AATTGTAACGTTTTACTCCAG	0.403													C	53209369	T	C	53209369	2	2	364	1	0	0	0	0	0	0	0	1	18138	1722	60	3		3	ZNF611	19	53209369	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	773	53209369	5919614	13925	37427											
ZNF611	81856	broad.mit.edu	37	chr19	53219140	53219140	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgagctgcttcctcaCgtaacatgagtctttaggaa	9	14	8	10	1	4	2	1	2	3	0	5	3	5	3	1	1	3	3	1	1	3	5	rs146379839	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53219140C>T	ENST00000453741.2	-	0	272				ZNF611_ENST00000543227.1_Missense_Mutation_p.R3H|ZNF611_ENST00000595798.1_De_novo_Start_OutOfFrame|ZNF611_ENST00000596702.1_Missense_Mutation_p.R3H|ZNF611_ENST00000540744.1_Missense_Mutation_p.R3H|ZNF611_ENST00000602162.1_Intron|ZNF611_ENST00000600943.1_Missense_Mutation_p.R3H|ZNF611_ENST00000319783.1_Missense_Mutation_p.R3H	NM_001161501.1	NP_001154973.1	Q8N823	ZN611_HUMAN	zinc finger protein 611						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(262;0.0233)|GBM - Glioblastoma multiforme(134;0.04)		TGCTTCCTCACGTAACATGAG	0.428													T	53219140	C	T	53219140	1	4	364	1	0	0	0	0	0	0	0	0	18138	536	19	1		1	ZNF611	19	53219140	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9771	53219140	5909843	13926	37428											
ZNF600	162966	broad.mit.edu	37	chr19	53270475	53270475	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatggggtatctggtgtttCcttaagagtgagctacaatt	11	14	11	5	0	1	2	0	1	1	1	2	2	2	2	1	3	2	3	1	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53270475C>T	ENST00000338230.3	-	3	801	c.534G>A	c.(532-534)agG>agA	p.R178R		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	178					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCTGGTGTTTCCTTAAGAGTG	0.368													T	53270475	C	T	53270475	2	4	364	1	0	0	0	0	0	0	0	1	18131	854	30	2		2	ZNF600	19	53270475	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51335	53270475	5858508	13927	37429											
ZNF28	7576	broad.mit.edu	37	chr19	53304598	53304598	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggaagcattgttgataGacttctcaacttgattacca	12	13	8	8	0	1	4	1	3	1	1	2	5	1	5	1	1	3	2	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53304598G>T	ENST00000438150.2	-	2	1234	c.341C>A	c.(340-342)tCt>tAt	p.S114Y	ZNF28_ENST00000457749.2_Missense_Mutation_p.S167Y|ZNF28_ENST00000414252.2_Missense_Mutation_p.S114Y|ZNF28_ENST00000360272.4_Missense_Mutation_p.S114Y			P17035	ZNF28_HUMAN	zinc finger protein 28	167					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		ATTGTTGATAGACTTCTCAAC	0.368													T	53304598	G	T	53304598	3	4	364	1	0	0	0	0	1	0	0	0	17914	942	33	4	1660	4	ZNF28	19	53304598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34123	53304598	5824385	13928	37430											
ZNF468	90333	broad.mit.edu	37	chr19	53345338	53345338	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgcaatgtccctgtgTggatcacttctgtattgcct	5	16	10	10	0	3	0	1	0	2	0	4	1	4	1	2	1	2	2	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53345338T>C	ENST00000595646.1	-	4	329	c.209A>G	c.(208-210)cAc>cGc	p.H70R	ZNF468_ENST00000390651.4_Missense_Mutation_p.H17R|ZNF468_ENST00000396409.4_Missense_Mutation_p.H17R|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_Silent_p.P109P			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	70	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		TGTCCCTGTGTGGATCACTTC	0.388													C	53345338	T	C	53345338	3	2	364	1	0	0	0	0	1	0	0	0	18029	1696	59	3	1363	3	ZNF468	19	53345338	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40740	53345338	5783645	13929	37431											
ZNF160	90338	broad.mit.edu	37	chr19	53571786	53571786	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccagtatggatgaccttAtgggtagttaggtttgaatg	9	15	12	5	0	1	2	0	2	1	0	2	3	1	3	2	3	0	4	2	3	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53571786A>G	ENST00000601421.1	-	3	2769	c.1893T>C	c.(1891-1893)caT>caC	p.H631H	ZNF160_ENST00000429604.1_Silent_p.H667H|ZNF160_ENST00000599056.1_Silent_p.H667H|ZNF160_ENST00000418871.1_Silent_p.H667H			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	667					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		GGATGACCTTATGGGTAGTTA	0.428													G	53571786	A	G	53571786	2	3	364	1	0	0	0	0	0	0	0	1	17840	446	16	3		3	ZNF160	19	53571786	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	226448	53571786	5557197	13930	37432											
ZNF160	90338	broad.mit.edu	37	chr19	53572973	53572973	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctcctatgacttgtaaGgttcgaattctgagtgaacg	11	14	9	7	2	2	3	0	3	2	0	4	4	2	3	1	1	1	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53572973G>T	ENST00000601421.1	-	3	1582	c.706C>A	c.(706-708)Ctt>Att	p.L236I	ZNF160_ENST00000429604.1_Missense_Mutation_p.L272I|ZNF160_ENST00000599056.1_Missense_Mutation_p.L272I|ZNF160_ENST00000418871.1_Missense_Mutation_p.L272I			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	272					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TGACTTGTAAGGTTCGAATTC	0.378													T	53572973	G	T	53572973	3	4	364	1	0	0	0	0	1	0	0	0	17840	1000	35	4	1646	4	ZNF160	19	53572973	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1187	53572973	5556010	13931	37433											
ZNF160	90338	broad.mit.edu	37	chr19	53573045	53573045	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaactgtttgcttttcGtctttgtgtgagtaatgaaa	9	17	8	7	1	1	2	0	2	1	0	3	2	2	2	1	0	2	3	1	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53573045G>A	ENST00000601421.1	-	3	1510	c.634C>T	c.(634-636)Cga>Tga	p.R212*	ZNF160_ENST00000429604.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000599056.1_Nonsense_Mutation_p.R248*|ZNF160_ENST00000418871.1_Nonsense_Mutation_p.R248*			Q9HCG1	ZN160_HUMAN	zinc finger protein 160	248					hemopoiesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(8)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	35				GBM - Glioblastoma multiforme(134;0.02)		TTTGCTTTTCGTCTTTGTGTG	0.373													A	53573045	G	A	53573045	4	1	364	1	0	0	0	0	0	1	0	0	17840	1153	40	1	1718	1	ZNF160	19	53573045	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72	53573045	5555938	13932	37434											
ZNF347	84671	broad.mit.edu	37	chr19	53643864	53643864	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaccttcccacactcattGcatttgtaaggtttttttcc	9	16	5	11	0	1	1	1	0	0	1	3	1	3	1	3	1	1	3	3	1	2	7	rs151303414		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53643864G>A	ENST00000452676.2	-	5	2646	c.2220C>T	c.(2218-2220)tgC>tgT	p.C740C	ZNF347_ENST00000601469.2_Silent_p.C740C|ZNF347_ENST00000334197.7_Silent_p.C739C|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	739					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		CACACTCATTGCATTTGTAAG	0.428													A	53643864	G	A	53643864	2	1	364	1	0	0	0	0	0	0	0	1	17962	1311	46	2		2	ZNF347	19	53643864	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	70819	53643864	5485119	13933	37435											
ZNF347	84671	broad.mit.edu	37	chr19	53644945	53644945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacgagctctaaaggctttcCcacactcattacacttgtaa	13	11	5	12	1	2	0	1	0	1	0	3	1	3	0	1	1	3	3	1	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53644945C>A	ENST00000452676.2	-	5	1565	c.1139G>T	c.(1138-1140)gGg>gTg	p.G380V	ZNF347_ENST00000601469.2_Missense_Mutation_p.G380V|ZNF347_ENST00000334197.7_Missense_Mutation_p.G379V|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	379					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		AAAGGCTTTCCCACACTCATT	0.418													A	53644945	C	A	53644945	3	1	364	1	0	0	0	0	1	0	0	0	17962	623	22	4	1387	4	ZNF347	19	53644945	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1081	53644945	5484038	13934	37436											
ZNF347	84671	broad.mit.edu	37	chr19	53645134	53645134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactcattacatttgtaaCgtttttcgccagtatggatc	10	15	6	10	2	1	0	1	0	0	0	3	1	1	1	1	1	2	3	1	1	3	6	rs142905085		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53645134C>T	ENST00000452676.2	-	5	1376	c.950G>A	c.(949-951)cGt>cAt	p.R317H	ZNF347_ENST00000601469.2_Missense_Mutation_p.R317H|ZNF347_ENST00000334197.7_Missense_Mutation_p.R316H|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	316					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACATTTGTAACGTTTTTCGCC	0.373													T	53645134	C	T	53645134	3	4	364	1	0	0	0	0	1	0	0	0	17962	536	19	1	1576	1	ZNF347	19	53645134	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	189	53645134	5483849	13935	37437											
ZNF665	79788	broad.mit.edu	37	chr19	53668594	53668594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttaagtttgaatgcatactGaaggctttcccacactcatt	11	14	7	9	0	1	2	1	2	0	0	2	2	2	2	1	1	2	4	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668594G>A	ENST00000600412.1	-	2	1069	c.954C>T	c.(952-954)ttC>ttT	p.F318F	ZNF665_ENST00000396424.3_Silent_p.F383F			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	318					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		AATGCATACTGAAGGCTTTCC	0.408													A	53668594	G	A	53668594	2	1	364	1	0	0	0	0	0	0	0	1	18174	1281	45	2		2	ZNF665	19	53668594	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23460	53668594	5460389	13936	37438											
ZNF665	79788	broad.mit.edu	37	chr19	53668654	53668654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagtatgaattcgccgatgCtttgcaaggtatgaattgtg	10	13	11	7	2	0	2	0	2	0	0	1	3	0	2	2	1	2	4	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668654C>A	ENST00000600412.1	-	2	1009	c.894G>T	c.(892-894)aaG>aaT	p.K298N	ZNF665_ENST00000396424.3_Missense_Mutation_p.K363N			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		TTCGCCGATGCTTTGCAAGGT	0.418													A	53668654	C	A	53668654	3	1	364	1	0	0	0	0	1	0	0	0	18174	796	28	4	951	4	ZNF665	19	53668654	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60	53668654	5460329	13937	37439											
ZNF665	79788	broad.mit.edu	37	chr19	53668765	53668765	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcttgagcgaacactaaaGgctttgccacactcattaca	13	9	8	11	1	1	1	1	1	0	0	1	2	1	1	1	2	4	2	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53668765G>T	ENST00000600412.1	-	2	898	c.783C>A	c.(781-783)gcC>gcA	p.A261A	ZNF665_ENST00000396424.3_Silent_p.A326A			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		GAACACTAAAGGCTTTGCCAC	0.433													T	53668765	G	T	53668765	2	4	364	1	0	0	0	0	0	0	0	1	18174	987	35	4		4	ZNF665	19	53668765	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111	53668765	5460218	13938	37440											
ZNF677	342926	broad.mit.edu	37	chr19	53740687	53740687	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccacacacattacatttGtgtggtttctctccaggatg	8	14	8	11	0	1	0	0	0	1	0	3	1	2	1	2	2	2	1	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53740687G>A	ENST00000333952.4	-	5	1458	c.1293C>T	c.(1291-1293)caC>caT	p.H431H	ZNF677_ENST00000598513.1_Silent_p.H431H			Q86XU0	ZN677_HUMAN	zinc finger protein 677	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CATTACATTTGTGTGGTTTCT	0.398													A	53740687	G	A	53740687	2	1	364	1	0	0	0	0	0	0	0	1	18185	1368	48	2		2	ZNF677	19	53740687	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71922	53740687	5388296	13939	37441											
VN1R2	317701	broad.mit.edu	37	chr19	53761868	53761868	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctcttgtctctgcacaCggagagaaacccaccaaacc	12	7	6	16	1	2	1	0	0	2	1	4	3	2	2	3	1	3	1	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53761868C>T	ENST00000341702.3	+	1	324	c.240C>T	c.(238-240)caC>caT	p.H80H		NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	80					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		tctctgcacacggagagaaac	0.458													T	53761868	C	T	53761868	2	4	364	1	0	0	0	0	0	0	0	1	17281	535	19	1		1	VN1R2	19	53761868	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21181	53761868	5367115	13940	37442											
ZNF845	91664	broad.mit.edu	37	chr19	53856014	53856014	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttacaagtgtaatgagTgtggcaagaccttcggtcga	12	10	11	8	2	0	2	0	1	0	1	2	3	0	2	2	2	2	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856014T>G	ENST00000458035.1	+	4	2203	c.2086T>G	c.(2086-2088)Tgt>Ggt	p.C696G	ZNF845_ENST00000595091.1_Missense_Mutation_p.C696G	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	696				Missing (in Ref. 1; BAG58121).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						GTGTAATGAGTGTGGCAAGAC	0.428													G	53856014	T	G	53856014	3	3	364	1	0	0	0	0	1	0	0	0	18290	1696	59	5	2096	5	ZNF845	19	53856014	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	94146	53856014	5272969	13941	37443											
ZNF845	91664	broad.mit.edu	37	chr19	53856301	53856301	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgattcacacctggcAcaacatactagaattcacac	13	8	8	12	1	2	2	2	1	0	1	2	2	2	2	1	2	2	1	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53856301A>G	ENST00000458035.1	+	4	2490	c.2373A>G	c.(2371-2373)gcA>gcG	p.A791A	ZNF845_ENST00000595091.1_Silent_p.A791A	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	791					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						CACACCTGGCACAACATACTA	0.403													G	53856301	A	G	53856301	2	3	364	1	0	0	0	0	0	0	0	1	18290	146	6	3		3	ZNF845	19	53856301	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	287	53856301	5272682	13942	37444											
ZNF765	91661	broad.mit.edu	37	chr19	53911139	53911139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaaagaaatggccatgaaGcactcatgacaaaaatcaaa	21	6	7	7	0	2	4	2	3	0	1	2	4	2	4	1	1	1	1	1	1	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53911139G>A	ENST00000396408.3	+	4	448	c.331G>A	c.(331-333)Gca>Aca	p.A111T	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	111					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TGGCCATGAAGCACTCATGAC	0.353													A	53911139	G	A	53911139	3	1	364	1	0	0	0	0	1	0	0	0	18239	971	34	2	341	2	ZNF765	19	53911139	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54838	53911139	5217844	13943	37445											
ZNF765	91661	broad.mit.edu	37	chr19	53912162	53912162	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcctacagtttcaaatcaAaccttgaaatacatcagaaa	19	9	4	9	0	3	2	3	1	0	1	3	2	3	2	2	0	4	1	2	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912162A>C	ENST00000396408.3	+	4	1471	c.1354A>C	c.(1354-1356)Aac>Cac	p.N452H	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	452					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TTTCAAATCAAACCTTGAAAT	0.388													C	53912162	A	C	53912162	3	2	364	1	0	0	0	0	1	0	0	0	18239	14	1	5	1364	5	ZNF765	19	53912162	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1023	53912162	5216821	13944	37446											
ZNF765	91661	broad.mit.edu	37	chr19	53912265	53912265	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccttacataccatcataGacttcatactggacagaaac	15	10	4	12	0	2	2	2	0	0	2	3	3	3	3	2	1	4	0	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53912265G>T	ENST00000396408.3	+	4	1574	c.1457G>T	c.(1456-1458)aGa>aTa	p.R486I	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		TACCATCATAGACTTCATACT	0.378													T	53912265	G	T	53912265	3	4	364	1	0	0	0	0	1	0	0	0	18239	942	33	4	1467	4	ZNF765	19	53912265	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103	53912265	5216718	13945	37447											
ZNF761	388561	broad.mit.edu	37	chr19	53959491	53959491	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcatagtggagagaaccCttacaaatgtgaagatagtg	15	10	10	6	0	1	3	1	1	0	2	1	5	1	4	1	1	2	0	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959491C>A	ENST00000454407.1	+	0	2183							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGAGAGAACCCTTACAAATGT	0.383													A	53959491	C	A	53959491	1	1	364	0	1	0	0	0	0	0	0	0	18236	681	24	4		4	ZNF761	19	53959491	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47226	53959491	5169492	13946	37448											
ZNF761	388561	broad.mit.edu	37	chr19	53959722	53959722	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccttgaaggacataggaGaattcatactggagagaaac	18	7	10	6	0	1	3	1	1	0	2	1	7	1	5	1	3	3	0	1	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:53959722G>T	ENST00000454407.1	+	0	2414							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GGACATAGGAGAATTCATACT	0.398													T	53959722	G	T	53959722	1	4	364	0	1	0	0	0	0	0	0	0	18236	942	33	4		4	ZNF761	19	53959722	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	231	53959722	5169261	13947	37449											
ZNF331	55422	broad.mit.edu	37	chr19	54080795	54080795	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccggtgagaagcctcaCgaatgtaaggagtgtgggaa	13	6	14	8	2	1	1	1	1	0	1	1	5	1	3	2	3	1	1	2	3	4	1	rs149071213	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54080795C>T	ENST00000253144.9	+	7	2314	c.981C>T	c.(979-981)caC>caT	p.H327H	ZNF331_ENST00000449416.1_Silent_p.H327H|ZNF331_ENST00000511154.1_Silent_p.H327H|ZNF331_ENST00000511593.2_Silent_p.H327H|ZNF331_ENST00000513999.1_Silent_p.H327H|ZNF331_ENST00000513265.1_3'UTR|ZNF331_ENST00000512387.1_Silent_p.H327H|ZNF331_ENST00000411977.2_Silent_p.H327H	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.H327H(1)		NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		AGAAGCCTCACGAATGTAAGG	0.507			T	?	follicular thyroid adenoma								T	54080795	C	T	54080795	2	4	364	1	0	0	0	0	0	0	0	1	17950	535	19	1		1	ZNF331	19	54080795	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	121073	54080795	5048188	13948	37450											
ZNF331	55422	broad.mit.edu	37	chr19	54081145	54081145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctacgaatgtaaggagtGcgggaaggcatgtaaccacc	13	7	12	9	2	0	0	0	0	0	0	1	3	1	2	3	3	3	3	3	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54081145G>A	ENST00000253144.9	+	7	2664	c.1331G>A	c.(1330-1332)tGc>tAc	p.C444Y	ZNF331_ENST00000449416.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000511154.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000511593.2_Missense_Mutation_p.C444Y|ZNF331_ENST00000513999.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000512387.1_Missense_Mutation_p.C444Y|ZNF331_ENST00000411977.2_Missense_Mutation_p.C444Y	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TGTAAGGAGTGCGGGAAGGCA	0.488			T	?	follicular thyroid adenoma								A	54081145	G	A	54081145	3	1	364	1	0	0	0	0	1	0	0	0	17950	1319	46	2	1341	2	ZNF331	19	54081145	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350	54081145	5047838	13949	37451											
NLRP12	91662	broad.mit.edu	37	chr19	54314193	54314193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agataatcaaatctgccttgGaagagcttcccgtccgccca	11	9	8	13	2	2	2	1	0	1	2	4	3	4	3	4	1	2	1	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54314193G>C	ENST00000324134.6	-	3	888	c.720C>G	c.(718-720)ttC>ttG	p.F240L	NLRP12_ENST00000354278.3_Missense_Mutation_p.F240L|NLRP12_ENST00000351894.4_Missense_Mutation_p.F240L|NLRP12_ENST00000391773.1_Missense_Mutation_p.F240L|NLRP12_ENST00000391775.3_Missense_Mutation_p.F240L|NLRP12_ENST00000535162.1_Missense_Mutation_p.F240L|NLRP12_ENST00000345770.5_Missense_Mutation_p.F240L|NLRP12_ENST00000391772.1_Missense_Mutation_p.F240L	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	240	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		ATCTGCCTTGGAAGAGCTTCC	0.577													C	54314193	G	C	54314193	3	2	364	1	0	0	0	0	1	0	0	0	10550	1165	41	4	2593	4	NLRP12	19	54314193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	233048	54314193	4814790	13950	37452											
CACNG7	59284	broad.mit.edu	37	chr19	54418628	54418628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctccccagagacagtgcGcacggccacccccttcccca	7	4	7	23	2	0	1	0	0	0	1	2	2	2	1	9	1	1	1	9	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54418628G>A	ENST00000391767.1	+	4	505	c.293G>A	c.(292-294)cGc>cAc	p.R98H	CACNG7_ENST00000391766.1_Missense_Mutation_p.R98H|CACNG7_ENST00000468076.1_3'UTR|CACNG7_ENST00000222212.2_Missense_Mutation_p.R98H			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	98					regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity	p.R98H(1)		NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		GAGACAGTGCGCACGGCCACC	0.627													A	54418628	G	A	54418628	3	1	364	1	0	0	0	0	1	0	0	0	2588	1087	38	1	303	1	CACNG7	19	54418628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104435	54418628	4710355	13951	37453											
CACNG7	59284	broad.mit.edu	37	chr19	54445390	54445390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcccgcgtctcagcgactGctccgactactcgggccagt	5	7	11	18	6	1	0	1	0	1	0	4	2	2	0	4	1	3	1	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54445390G>A	ENST00000391767.1	+	6	883	c.671G>A	c.(670-672)tGc>tAc	p.C224Y	CACNG7_ENST00000222212.2_Missense_Mutation_p.C224Y			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	224				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CTCAGCGACTGCTCCGACTAC	0.672													A	54445390	G	A	54445390	3	1	364	1	0	0	0	0	1	0	0	0	2588	1319	46	2	689	2	CACNG7	19	54445390	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26762	54445390	4683593	13952	37454											
PRPF31	26121	broad.mit.edu	37	chr19	54625310	54625310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaacctgaccgtggagatcGaaaacgagctgagtgagtgc	13	6	13	9	3	0	4	0	3	0	1	1	7	0	4	2	1	4	1	2	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54625310G>A	ENST00000321030.4	+	4	659	c.310G>A	c.(310-312)Gaa>Aaa	p.E104K	PRPF31_ENST00000419967.1_Missense_Mutation_p.E104K|PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Missense_Mutation_p.E104K|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	104					assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGTGGAGATCGAAAACGAGCT	0.642													A	54625310	G	A	54625310	3	1	364	1	0	0	0	0	1	0	0	0	12652	1059	37	1	320	1	PRPF31	19	54625310	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179920	54625310	4503673	13953	37455											
TSEN34	79042	broad.mit.edu	37	chr19	54695428	54695428	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgtgactctggtcagcgcCccgcgtccagactctcggca	5	7	12	17	5	3	2	1	1	2	1	5	2	4	2	4	2	1	1	4	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54695428C>A	ENST00000396383.1	+	2	524	c.213C>A	c.(211-213)gcC>gcA	p.A71A	TSEN34_ENST00000302937.4_Silent_p.A71A|TSEN34_ENST00000396388.2_Silent_p.A71A|TSEN34_ENST00000429671.2_Silent_p.A71A			Q9BSV6	SEN34_HUMAN	TSEN34 tRNA splicing endonuclease subunit	71					mRNA processing|tRNA-type intron splice site recognition and cleavage	nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	10	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					TGGTCAGCGCCCCGCGTCCAG	0.701													A	54695428	C	A	54695428	2	1	364	1	0	0	0	0	0	0	0	1	16714	610	22	4		4	TSEN34	19	54695428	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70118	54695428	4433555	13954	37456											
LILRB3	11025	broad.mit.edu	37	chr19	54723078	54723078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcaggacgaaggccaccGagaccccaatcaaaacctcc	14	2	9	16	2	1	1	1	0	0	1	2	4	2	2	6	2	2	2	6	2	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54723078G>A	ENST00000391750.1	-	9	1482	c.1346C>T	c.(1345-1347)tCg>tTg	p.S449L	LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000440558.2_Missense_Mutation_p.S449L|LILRB3_ENST00000407860.2_Missense_Mutation_p.S466L|LILRA6_ENST00000270464.5_Missense_Mutation_p.S449L|LILRB3_ENST00000346401.6_Missense_Mutation_p.S461L|LILRB3_ENST00000245620.9_Missense_Mutation_p.S449L|LILRB3_ENST00000424807.1_Missense_Mutation_p.S449L|LILRB3_ENST00000469273.1_5'UTR|LILRA6_ENST00000419410.2_Missense_Mutation_p.S449L			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	449					cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAAGGCCACCGAGACCCCAAT	0.562													A	54723078	G	A	54723078	3	1	364	1	0	0	0	0	1	0	0	0	8852	1059	37	1	576	1	LILRB3	19	54723078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27650	54723078	4405905	13955	37457											
LILRA6	79168	broad.mit.edu	37	chr19	54742904	54742904	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaatcccgaggaacaccagGaccaagcctgccatgcccat	13	4	9	15	1	0	1	0	0	0	1	1	4	1	3	6	2	4	0	6	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54742904G>T	ENST00000396365.2	-	8	1410	c.1371C>A	c.(1369-1371)gtC>gtA	p.V457V	LILRA6_ENST00000391735.3_Intron|LILRA6_ENST00000245621.5_Silent_p.V440V|LILRA6_ENST00000440558.2_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGAACACCAGGACCAAGCCTG	0.577													T	54742904	G	T	54742904	2	4	364	1	0	0	0	0	0	0	0	1	8849	1161	41	4		4	LILRA6	19	54742904	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19826	54742904	4386079	13956	37458											
LILRA6	79168	broad.mit.edu	37	chr19	54745686	54745686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctgtgagccacatcggaGggtcatattcccccctgagg	7	10	11	13	1	2	2	1	2	1	0	4	3	3	3	4	3	1	0	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54745686G>T	ENST00000440558.2	-	4	472	c.424C>A	c.(424-426)Ctc>Atc	p.L142I	LILRA6_ENST00000391735.3_Missense_Mutation_p.L142I|LILRA6_ENST00000396365.2_Missense_Mutation_p.L142I|LILRA6_ENST00000245621.5_Missense_Mutation_p.L142I|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000270464.5_Missense_Mutation_p.L142I|LILRA6_ENST00000419410.2_Missense_Mutation_p.L142I					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCACATCGGAGGGTCATATTC	0.562													T	54745686	G	T	54745686	3	4	364	1	0	0	0	0	1	0	0	0	8849	1000	35	4	1041	4	LILRA6	19	54745686	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2782	54745686	4383297	13957	37459											
LILRA3	11026	broad.mit.edu	37	chr19	54800090	54800090	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgttttgtggtgggctgaGggtctcagctgctcctgaga	4	14	15	8	0	1	2	1	2	1	1	3	3	2	2	1	3	2	4	1	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54800090G>T	ENST00000391745.1	-	11	1643	c.1327C>A	c.(1327-1329)Ctc>Atc	p.L443I	LILRA3_ENST00000251390.3_Missense_Mutation_p.L426I|LILRA3_ENST00000391744.3_Missense_Mutation_p.L362I					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGTGGGCTGAGGGTCTCAGCT	0.483													T	54800090	G	T	54800090	3	4	364	1	0	0	0	0	1	0	0	0	8846	1000	35	4	47	4	LILRA3	19	54800090	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54404	54800090	4328893	13958	37460											
LENG8	114823	broad.mit.edu	37	chr19	54963829	54963829	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgcctctctgcttccacaGtacgtgtcccaggcagaagc	7	10	10	14	1	1	1	0	0	1	1	4	1	3	1	3	1	4	3	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54963829G>A	ENST00000326764.5	+	4	692		c.e4-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		TGCTTCCACAGTACGTGTCCC	0.562													A	54963829	G	A	54963829	5	1	364	1	0	0	0	0	0	0	1	0	8783	1043	36	2	223	2	LENG8	19	54963829	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	163739	54963829	4165154	13959	37461											
LENG8	114823	broad.mit.edu	37	chr19	54969112	54969112	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgccccgctgccccaGgtgcagggcatccgcaccga	5	6	12	18	4	1	0	0	0	1	0	3	1	2	0	6	2	2	5	6	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54969112G>T	ENST00000326764.5	+	13	2312		c.e13-1		LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8								protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		CGCTGCCCCAGGTGCAGGGCA	0.687													T	54969112	G	T	54969112	5	4	364	1	0	0	0	0	0	0	1	0	8783	1014	35	4	1879	4	LENG8	19	54969112	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5283	54969112	4159871	13960	37462											
LENG9	94059	broad.mit.edu	37	chr19	54973788	54973788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctgcttgtagcccaggctCggtcaccatgagggccacaa	8	9	11	13	1	2	1	1	1	1	0	3	1	2	1	3	3	2	3	3	3	2	3	rs142325287		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:54973788C>T	ENST00000333834.4	-	1	1106	c.988G>A	c.(988-990)Gag>Aag	p.E330K		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	330					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		AGCCCAGGCTCGGTCACCATG	0.627													T	54973788	C	T	54973788	3	4	364	1	0	0	0	0	1	0	0	0	8784	893	31	1	521	1	LENG9	19	54973788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4676	54973788	4155195	13961	37463											
LILRB1	10859	broad.mit.edu	37	chr19	55146618	55146618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccagagcccacagacagagGcctgcagtggaggtaattct	11	6	13	11	0	1	3	0	0	1	3	1	4	1	4	3	3	2	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55146618G>A	ENST00000396331.1	+	12	1904	c.1547G>A	c.(1546-1548)gGc>gAc	p.G516D	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.G517D|LILRB1_ENST00000434867.2_Missense_Mutation_p.G516D|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396327.3_Missense_Mutation_p.G517D|LILRB1_ENST00000324602.7_Missense_Mutation_p.G517D|LILRB1_ENST00000396321.2_Missense_Mutation_p.G516D|LILRB1_ENST00000396332.4_Missense_Mutation_p.G516D|LILRB1_ENST00000396317.1_Missense_Mutation_p.G500D|LILRB1_ENST00000418536.2_Missense_Mutation_p.G500D|LILRB1_ENST00000427581.2_Missense_Mutation_p.G566D	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	516					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		ACAGACAGAGGCCTGCAGTGG	0.617										HNSCC(37;0.09)			A	55146618	G	A	55146618	3	1	364	1	0	0	0	0	1	0	0	0	8850	1203	42	2	1588	2	LILRB1	19	55146618	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	172830	55146618	3982365	13962	37464											
LILRB1	10859	broad.mit.edu	37	chr19	55148190	55148190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccccgctgcaggctgctgCatctgaagccccccaggatg	6	7	11	17	1	1	1	0	1	1	0	2	2	2	2	5	2	4	5	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55148190C>T	ENST00000396331.1	+	16	2171	c.1814C>T	c.(1813-1815)gCa>gTa	p.A605V	LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000396315.1_Missense_Mutation_p.A607V|LILRB1_ENST00000434867.2_Missense_Mutation_p.A605V|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396327.3_Missense_Mutation_p.A606V|AC009892.10_ENST00000456337.1_Intron|LILRB1_ENST00000324602.7_Missense_Mutation_p.A607V|LILRB1_ENST00000396321.2_Missense_Mutation_p.A605V|LILRB1_ENST00000396332.4_Missense_Mutation_p.A606V|LILRB1_ENST00000396317.1_Missense_Mutation_p.A589V|LILRB1_ENST00000418536.2_Missense_Mutation_p.A589V|LILRB1_ENST00000427581.2_Missense_Mutation_p.A656V	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	605					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGCTGCTGCATCTGAAGCC	0.647										HNSCC(37;0.09)			T	55148190	C	T	55148190	3	4	364	1	0	0	0	0	1	0	0	0	8850	710	25	2	1874	2	LILRB1	19	55148190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1572	55148190	3980793	13963	37465											
LILRB4	11006	broad.mit.edu	37	chr19	55175251	55175251	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggctgagccaggctCtgtgatcagctgggggaact	6	9	15	11	0	3	2	1	2	2	0	3	3	3	3	2	4	3	3	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55175251C>A	ENST00000391736.1	+	5	425	c.110C>A	c.(109-111)tCt>tAt	p.S37Y	LILRB4_ENST00000430952.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000270452.2_Missense_Mutation_p.S37Y|LILRB4_ENST00000391733.3_Missense_Mutation_p.S37Y|LILRB4_ENST00000391734.3_Missense_Mutation_p.S37Y	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	37	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		GAGCCAGGCTCTGTGATCAGC	0.607													A	55175251	C	A	55175251	3	1	364	1	0	0	0	0	1	0	0	0	8853	913	32	4	120	4	LILRB4	19	55175251	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27061	55175251	3953732	13964	37466											
KIR2DL3	3804	broad.mit.edu	37	chr19	55250031	55250031	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtcgctcatggtcgtcagCatggtgtgtgttggtgagtc	5	14	15	7	2	2	1	2	1	0	0	5	1	2	1	0	3	1	3	0	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55250031C>A	ENST00000342376.3	+	1	52	c.21C>A	c.(19-21)agC>agA	p.S7R	KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.S7R|KIR3DL1_ENST00000541392.1_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		TGGTCGTCAGCATGGTGTGTG	0.612											OREG0003673	type=REGULATORY REGION|Gene=KIR2DL3|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	55250031	C	A	55250031	3	1	364	1	0	0	0	0	1	0	0	0	8375	709	25	4	23	4	KIR2DL3	19	55250031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74780	55250031	3878952	13965	37467											
KIR3DL1	3811	broad.mit.edu	37	chr19	55331358	55331358	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaaggccaatttctccatCggtcccatgatgcttgccct	7	12	7	15	1	1	1	0	1	1	0	5	1	3	1	5	2	2	1	5	2	2	2	rs116306767	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55331358C>T	ENST00000391728.4	+	4	579	c.546C>T	c.(544-546)atC>atT	p.I182I	KIR3DL1_ENST00000538269.1_Silent_p.I182I|KIR3DL1_ENST00000402254.2_Silent_p.I182I|KIR3DL1_ENST00000358178.4_Silent_p.I87I|KIR3DL1_ENST00000326542.7_Silent_p.I182I|KIR3DL1_ENST00000541392.1_Silent_p.I182I	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		ATTTCTCCATCGGTCCCATGA	0.537													T	55331358	C	T	55331358	2	4	364	1	0	0	0	0	0	0	0	1	8378	874	31	1		1	KIR3DL1	19	55331358	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	81327	55331358	3797625	13966	37468											
NLRP7	199713	broad.mit.edu	37	chr19	55445085	55445085	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtccttgcaactggcttCtgtaagacgacagttttcca	10	12	9	10	1	1	1	0	0	1	1	3	2	3	1	2	2	2	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55445085C>T	ENST00000588756.1	-	10	2980	c.2494G>A	c.(2494-2496)Gaa>Aaa	p.E832K	NLRP7_ENST00000340844.2_Missense_Mutation_p.E832K|NLRP7_ENST00000592784.1_Missense_Mutation_p.E832K|NLRP7_ENST00000446217.1_Missense_Mutation_p.E860K|NLRP7_ENST00000448121.2_Missense_Mutation_p.E804K|NLRP7_ENST00000328092.5_Missense_Mutation_p.E804K|NLRP7_ENST00000590030.1_Missense_Mutation_p.E832K			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	832							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CAACTGGCTTCTGTAAGACGA	0.473													T	55445085	C	T	55445085	3	4	364	1	0	0	0	0	1	0	0	0	10558	922	32	2	635	2	NLRP7	19	55445085	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	113727	55445085	3683898	13967	37469											
NLRP7	199713	broad.mit.edu	37	chr19	55451754	55451754	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacgtcgtcatggaaatTgtcaatgtctccttgccaaa	11	12	9	9	2	3	1	2	1	1	0	5	2	3	2	2	1	1	0	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55451754T>C	ENST00000588756.1	-	6	919	c.433A>G	c.(433-435)Aat>Gat	p.N145D	NLRP7_ENST00000340844.2_Missense_Mutation_p.N145D|NLRP7_ENST00000592784.1_Missense_Mutation_p.N145D|NLRP7_ENST00000446217.1_Missense_Mutation_p.N173D|NLRP7_ENST00000448121.2_Missense_Mutation_p.N145D|NLRP7_ENST00000328092.5_Missense_Mutation_p.N145D|NLRP7_ENST00000590030.1_Missense_Mutation_p.N145D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	145							ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCATGGAAATTGTCAATGTCT	0.478													C	55451754	T	C	55451754	3	2	364	1	0	0	0	0	1	0	0	0	10558	1812	63	3	2712	3	NLRP7	19	55451754	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6669	55451754	3677229	13968	37470											
NLRP2	55655	broad.mit.edu	37	chr19	55508792	55508792	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagaatcccttggggtCtagtggagtgaagatgctgt	8	11	16	6	0	2	3	1	1	1	2	3	4	3	4	1	4	1	1	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55508792C>A	ENST00000543010.1	+	12	3130	c.2987C>A	c.(2986-2988)tCt>tAt	p.S996Y	NLRP2_ENST00000263437.6_Missense_Mutation_p.S993Y|NLRP2_ENST00000537859.1_Missense_Mutation_p.S974Y|NLRP2_ENST00000339757.7_Missense_Mutation_p.S974Y|NLRP2_ENST00000427260.2_Missense_Mutation_p.S973Y|NLRP2_ENST00000538819.1_Missense_Mutation_p.S972Y|NLRP2_ENST00000448584.2_Missense_Mutation_p.S996Y|NLRP2_ENST00000391721.4_Missense_Mutation_p.S972Y	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	996					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CCCTTGGGGTCTAGTGGAGTG	0.537													A	55508792	C	A	55508792	3	1	364	1	0	0	0	0	1	0	0	0	10553	913	32	4	3029	4	NLRP2	19	55508792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57038	55508792	3620191	13969	37471											
GP6	51206	broad.mit.edu	37	chr19	55526304	55526304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggtcatgaacataacccGcggctgtgaacatcctgtcg	10	8	11	12	4	1	2	1	2	0	0	3	2	2	2	2	2	4	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55526304G>A	ENST00000310373.3	-	8	1036	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	CTC-550B14.7_ENST00000586845.1_RNA|CTC-550B14.7_ENST00000593060.1_RNA|GP6_ENST00000333884.2_Silent_p.R317R|GP6_ENST00000417454.1_Silent_p.R335R	NM_001083899.1	NP_001077368	Q9HCN6	GPVI_HUMAN	glycoprotein VI (platelet)	0					enzyme linked receptor protein signaling pathway|leukocyte migration|platelet activation	integral to plasma membrane	collagen binding|transmembrane receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19			BRCA - Breast invasive adenocarcinoma(297;0.156)	GBM - Glioblastoma multiforme(193;0.0515)		AACATAACCCGCGGCTGTGAA	0.642													A	55526304	G	A	55526304	3	1	364	1	0	0	0	0	1	0	0	0	6638	1086	38	1	857	1	GP6	19	55526304	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17512	55526304	3602679	13970	37472											
RDH13	112724	broad.mit.edu	37	chr19	55556517	55556517	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcactttcagcccaaagcctCcgggccacctcctcatcctc	7	8	6	20	1	2	0	2	0	0	0	6	0	5	0	7	1	2	1	7	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55556517C>A	ENST00000396247.3	-	8	1180	c.708G>T	c.(706-708)cgG>cgT	p.R236R	CTC-550B14.6_ENST00000585492.1_RNA|RDH13_ENST00000415061.3_Silent_p.R307R|CTC-550B14.7_ENST00000593060.1_RNA	NM_138412.3	NP_612421.1	Q8NBN7	RDH13_HUMAN	retinol dehydrogenase 13 (all-trans/9-cis)	307							binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.199)	GBM - Glioblastoma multiforme(193;0.0504)	Vitamin A(DB00162)	CCCAAAGCCTCCGGGCCACCT	0.622													A	55556517	C	A	55556517	2	1	364	1	0	0	0	0	0	0	0	1	13280	842	30	4		4	RDH13	19	55556517	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30213	55556517	3572466	13971	37473											
EPS8L1	54869	broad.mit.edu	37	chr19	55590426	55590426	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcccagtacccagtcaatGtgagtctggggtctgtgttc	7	13	11	10	0	3	1	1	1	2	0	5	1	4	1	2	2	1	2	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55590426G>A	ENST00000201647.6	+	4	173		c.e4+1		EPS8L1_ENST00000592824.1_Splice_Site|EPS8L1_ENST00000586329.1_Intron|EPS8L1_ENST00000540810.1_Intron	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1							cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CCCAGTCAATGTGAGTCTGGG	0.557													A	55590426	G	A	55590426	5	1	364	1	0	0	0	0	0	0	1	0	5236	1391	48	2	128	2	EPS8L1	19	55590426	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33909	55590426	3538557	13972	37474											
EPS8L1	54869	broad.mit.edu	37	chr19	55597258	55597258	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagctggagtcagagacaGcaggaaaatgggtcctgtgt	11	8	14	8	0	2	1	2	0	0	1	3	4	3	3	1	3	2	2	1	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55597258G>T	ENST00000201647.6	+	15	1491	c.1435G>T	c.(1435-1437)Gca>Tca	p.A479S	EPS8L1_ENST00000245618.5_Missense_Mutation_p.A352S|EPS8L1_ENST00000586329.1_Missense_Mutation_p.A493S|EPS8L1_ENST00000588359.1_Missense_Mutation_p.A165S|EPS8L1_ENST00000540810.1_Missense_Mutation_p.A415S	NM_133180.2	NP_573441.2	Q8TE68	ES8L1_HUMAN	EPS8-like 1	479	SH3.					cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GTCAGAGACAGCAGGAAAATG	0.577													T	55597258	G	T	55597258	3	4	364	1	0	0	0	0	1	0	0	0	5236	971	34	4	1541	4	EPS8L1	19	55597258	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6832	55597258	3531725	13973	37475											
SYT5	6861	broad.mit.edu	37	chr19	55686268	55686268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acctgacagtcctcctacgtCcatcttcttcaggtttttag	7	15	6	13	1	3	1	1	1	2	0	6	1	6	1	4	1	1	1	4	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55686268C>T	ENST00000354308.3	-	7	1177	c.808G>A	c.(808-810)Gac>Aac	p.D270N	SYT5_ENST00000537500.1_Missense_Mutation_p.D270N|CTD-2587H24.5_ENST00000591665.1_RNA|SYT5_ENST00000590851.1_Missense_Mutation_p.D266N	NM_003180.2	NP_003171.2	O00445	SYT5_HUMAN	synaptotagmin V	270	C2 2.				energy reserve metabolic process|regulation of insulin secretion|synaptic transmission	cell junction|integral to membrane|recycling endosome membrane|synaptic vesicle membrane	metal ion binding|transporter activity			kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0452)		CCTCCTACGTCCATCTTCTTC	0.592													T	55686268	C	T	55686268	3	4	364	1	0	0	0	0	1	0	0	0	15574	855	30	2	364	2	SYT5	19	55686268	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	89010	55686268	3442715	13974	37476											
PTPRH	5794	broad.mit.edu	37	chr19	55693505	55693505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcaatgagggttcctgtgCgacccacgccagcactaggc	8	6	14	13	2	0	1	0	1	0	0	1	2	1	1	3	3	2	3	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55693505C>T	ENST00000376350.3	-	19	3099	c.3077G>A	c.(3076-3078)cGc>cAc	p.R1026H	PTPRH_ENST00000263434.5_Missense_Mutation_p.R848H	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1026	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTTCCTGTGCGACCCACGCC	0.597													T	55693505	C	T	55693505	3	4	364	1	0	0	0	0	1	0	0	0	12891	768	27	1	278	1	PTPRH	19	55693505	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7237	55693505	3435478	13975	37477											
PTPRH	5794	broad.mit.edu	37	chr19	55702874	55702874	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccttctgctcacctaaaGaccagatccctgagttctgg	10	10	8	13	0	3	4	1	1	2	3	4	4	4	4	4	1	1	2	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55702874G>T	ENST00000376350.3	-	12	2401	c.2379C>A	c.(2377-2379)gtC>gtA	p.V793V	PTPRH_ENST00000263434.5_Silent_p.V615V	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	793					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTCACCTAAAGACCAGATCCC	0.532													T	55702874	G	T	55702874	2	4	364	1	0	0	0	0	0	0	0	1	12891	929	33	4		4	PTPRH	19	55702874	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9369	55702874	3426109	13976	37478											
PTPRH	5794	broad.mit.edu	37	chr19	55710122	55710122	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagggtgatgtcagtacCtgaggtgctttgggtcctgg	5	14	15	7	0	1	2	1	2	0	0	2	2	2	2	2	4	2	2	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55710122C>A	ENST00000376350.3	-	8	1601	c.1579G>T	c.(1579-1581)Ggt>Tgt	p.G527C	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.G349C	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	527	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G527S(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		ATGTCAGTACCTGAGGTGCTT	0.597													A	55710122	C	A	55710122	3	1	364	1	0	0	0	0	1	0	0	0	12891	681	24	4	1820	4	PTPRH	19	55710122	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7248	55710122	3418861	13977	37479											
BRSK1	84446	broad.mit.edu	37	chr19	55814691	55814691	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccttagggagaaccaagaAaagatgatatattatctgct	15	11	9	6	0	1	4	0	1	1	3	1	5	1	4	2	1	3	1	2	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55814691A>G	ENST00000309383.1	+	11	1318	c.1041A>G	c.(1039-1041)gaA>gaG	p.E347E	BRSK1_ENST00000590333.1_Silent_p.E363E|BRSK1_ENST00000326848.7_Silent_p.E42E	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	347	UBA.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		AGAACCAAGAAAAGATGATAT	0.552													G	55814691	A	G	55814691	2	3	364	1	0	0	0	0	0	0	0	1	1532	11	1	3		3	BRSK1	19	55814691	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	104569	55814691	3314292	13978	37480											
ZNF628	89887	broad.mit.edu	37	chr19	55994999	55994999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggaggcagggccacaGgaaatgagtggggtgcagct	9	5	21	6	0	0	1	0	1	0	0	0	3	0	3	1	8	2	3	1	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:55994999G>A	ENST00000598519.1	+	3	2992	c.2439G>A	c.(2437-2439)caG>caA	p.Q813Q	ZNF628_ENST00000391718.2_Silent_p.Q809Q			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	809						nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCACAGGAAATGAGTG	0.682													A	55994999	G	A	55994999	2	1	364	1	0	0	0	0	0	0	0	1	18153	991	35	2		2	ZNF628	19	55994999	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180308	55994999	3133984	13979	37481											
FIZ1	84922	broad.mit.edu	37	chr19	56103882	56103882	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgatgaagcccttgccGcagatgtggcaagggaaggg	10	6	17	8	2	0	3	0	2	0	1	0	4	0	4	2	3	3	2	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56103882G>A	ENST00000221665.3	-	3	1514	c.1425C>T	c.(1423-1425)tgC>tgT	p.C475C		NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	475					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		AGCCCTTGCCGCAGATGTGGC	0.672													A	56103882	G	A	56103882	2	1	364	1	0	0	0	0	0	0	0	1	5949	1079	38	1		1	FIZ1	19	56103882	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108883	56103882	3025101	13980	37482											
CCDC106	29903	broad.mit.edu	37	chr19	56160635	56160635	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccacctagacccacaGatcttttacagtctgagccc	10	8	6	17	0	2	3	0	1	2	2	2	3	2	3	5	0	2	1	5	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56160635G>T	ENST00000586790.1	+	2	1000	c.96G>T	c.(94-96)caG>caT	p.Q32H	CCDC106_ENST00000591241.1_Intron|CCDC106_ENST00000308964.3_Missense_Mutation_p.Q32H|CCDC106_ENST00000591578.1_Missense_Mutation_p.Q32H|CCDC106_ENST00000588740.1_Missense_Mutation_p.Q32H			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	32						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TAGACCCACAGATCTTTTACA	0.582													T	56160635	G	T	56160635	3	4	364	1	0	0	0	0	1	0	0	0	2767	933	33	4	102	4	CCDC106	19	56160635	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56753	56160635	2968348	13981	37483											
NLRP11	204801	broad.mit.edu	37	chr19	56300722	56300722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagtagcaataactatggCaatatattgacagatatcgc	16	12	7	6	1	0	2	0	1	0	1	1	2	0	2	0	1	2	3	0	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56300722C>T	ENST00000443188.1	-	10	3267	c.2557G>A	c.(2557-2559)Gcc>Acc	p.A853T	NLRP11_ENST00000589093.1_Missense_Mutation_p.A853T|NLRP11_ENST00000592953.1_Missense_Mutation_p.A754T|NLRP11_ENST00000360133.3_Missense_Mutation_p.A799T|NLRP11_ENST00000589824.2_Missense_Mutation_p.A799T	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	853							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ATAACTATGGCAATATATTGA	0.413													T	56300722	C	T	56300722	3	4	364	1	0	0	0	0	1	0	0	0	10549	710	25	2	556	2	NLRP11	19	56300722	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	140087	56300722	2828261	13982	37484											
NLRP11	204801	broad.mit.edu	37	chr19	56312942	56312942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcaacaactcacctcaGatgacttatttggcatgtgg	11	10	9	11	1	2	2	2	1	0	1	2	3	2	2	2	2	3	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56312942G>T	ENST00000443188.1	-	7	2877	c.2167C>A	c.(2167-2169)Ctg>Atg	p.L723M	NLRP11_ENST00000589093.1_Missense_Mutation_p.L723M|NLRP11_ENST00000592953.1_Missense_Mutation_p.L624M|NLRP11_ENST00000360133.3_Missense_Mutation_p.L669M|NLRP11_ENST00000589824.2_Missense_Mutation_p.L669M	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	723							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		ACTCACCTCAGATGACTTATT	0.488													T	56312942	G	T	56312942	3	4	364	1	0	0	0	0	1	0	0	0	10549	933	33	4	958	4	NLRP11	19	56312942	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12220	56312942	2816041	13983	37485											
NLRP11	204801	broad.mit.edu	37	chr19	56320975	56320975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatggcgactcggcacagaCccacgagtatttcatcctca	11	8	9	13	3	2	2	2	0	0	2	4	4	3	2	2	2	0	2	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56320975C>T	ENST00000443188.1	-	5	1711	c.1001G>A	c.(1000-1002)gGt>gAt	p.G334D	NLRP11_ENST00000589093.1_Missense_Mutation_p.G334D|NLRP11_ENST00000592953.1_Missense_Mutation_p.G235D|NLRP11_ENST00000360133.3_Missense_Mutation_p.G334D|NLRP11_ENST00000589824.2_Missense_Mutation_p.G334D	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	334	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCGGCACAGACCCACGAGTAT	0.527													T	56320975	C	T	56320975	3	4	364	1	0	0	0	0	1	0	0	0	10549	507	18	2	2132	2	NLRP11	19	56320975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8033	56320975	2808008	13984	37486											
NLRP4	147945	broad.mit.edu	37	chr19	56363645	56363645	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcactatgaagaacaaCaagcttggaacataacctta	18	8	6	9	0	1	2	1	1	0	1	1	3	1	3	1	1	6	2	1	1	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56363645C>T	ENST00000301295.6	+	2	621	c.199C>T	c.(199-201)Caa>Taa	p.Q67*	NLRP4_ENST00000346986.5_Nonsense_Mutation_p.Q67*	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	67	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGAAGAACAACAAGCTTGGAA	0.448													T	56363645	C	T	56363645	4	4	364	1	0	0	0	0	0	1	0	0	10555	479	17	2	201	2	NLRP4	19	56363645	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42670	56363645	2765338	13985	37487											
NLRP4	147945	broad.mit.edu	37	chr19	56369066	56369066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagacctatcaagctcacGcaaagcagaaattcagccgc	16	5	7	13	2	3	2	3	0	0	2	3	2	3	2	2	0	3	3	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56369066G>A	ENST00000301295.6	+	3	729	c.307G>A	c.(307-309)Gca>Aca	p.A103T	NLRP4_ENST00000346986.5_Missense_Mutation_p.A103T|NLRP4_ENST00000587891.1_Missense_Mutation_p.A28T	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	103							ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCAAGCTCACGCAAAGCAGAA	0.428													A	56369066	G	A	56369066	3	1	364	1	0	0	0	0	1	0	0	0	10555	1087	38	1	313	1	NLRP4	19	56369066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5421	56369066	2759917	13986	37488											
NLRP13	126204	broad.mit.edu	37	chr19	56424591	56424591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gatatatacgtggtctttagGccaactgatgttgtcccatg	9	14	10	8	1	1	1	0	1	1	0	2	2	2	1	2	2	2	1	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56424591G>A	ENST00000588751.1	-	5	616	c.592C>T	c.(592-594)Cct>Tct	p.P198S	NLRP13_ENST00000342929.3_Missense_Mutation_p.P198S			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	198							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TGGTCTTTAGGCCAACTGATG	0.483													A	56424591	G	A	56424591	3	1	364	1	0	0	0	0	1	0	0	0	10551	1203	42	2	2565	2	NLRP13	19	56424591	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55525	56424591	2704392	13987	37489											
NLRP8	126205	broad.mit.edu	37	chr19	56459555	56459555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgtttccctggacgacGcgcttgggatgtgacttcga	7	10	14	10	5	0	2	0	1	0	1	2	6	1	4	1	2	1	2	1	2	0	3	rs145352424		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56459555G>A	ENST00000291971.3	+	1	358	c.287G>A	c.(286-288)cGc>cAc	p.R96H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R96H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	96	DAPIN.					cytoplasm	ATP binding	p.R96H(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CCTGGACGACGCGCTTGGGAT	0.512													A	56459555	G	A	56459555	3	1	364	1	0	0	0	0	1	0	0	0	10559	1087	38	1	289	1	NLRP8	19	56459555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34964	56459555	2669428	13988	37490											
NLRP8	126205	broad.mit.edu	37	chr19	56466706	56466706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgccacctctgtgttcGtccggtatatttctagcttg	7	15	8	11	2	2	0	0	0	2	0	4	0	3	0	3	1	2	3	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56466706G>A	ENST00000291971.3	+	3	1353	c.1282G>A	c.(1282-1284)Gtc>Atc	p.V428I	NLRP8_ENST00000590542.1_Missense_Mutation_p.V428I	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	428	NACHT.					cytoplasm	ATP binding	p.V428I(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		CTCTGTGTTCGTCCGGTATAT	0.498													A	56466706	G	A	56466706	3	1	364	1	0	0	0	0	1	0	0	0	10559	1145	40	1	1292	1	NLRP8	19	56466706	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7151	56466706	2662277	13989	37491											
NLRP8	126205	broad.mit.edu	37	chr19	56487536	56487536	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacctttaattgctgtcagGatatgatctctgcgctctgt	7	16	9	9	1	3	2	1	2	2	0	4	3	3	3	1	1	2	2	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56487536G>T	ENST00000291971.3	+	8	2814	c.2743G>T	c.(2743-2745)Gat>Tat	p.D915Y	NLRP8_ENST00000590542.1_Missense_Mutation_p.D896Y	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	915						cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGCTGTCAGGATATGATCTC	0.398													T	56487536	G	T	56487536	3	4	364	1	0	0	0	0	1	0	0	0	10559	1174	41	4	2773	4	NLRP8	19	56487536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20830	56487536	2641447	13990	37492											
NLRP5	126206	broad.mit.edu	37	chr19	56544907	56544907	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccccttccccattgcaGgtttagaaatgcacagatta	10	12	7	12	0	1	2	0	0	1	2	3	2	2	2	4	1	2	3	4	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56544907G>T	ENST00000390649.3	+	9	2447		c.e9-1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCATTGCAGGTTTAGAAAT	0.478													T	56544907	G	T	56544907	5	4	364	1	0	0	0	0	0	0	1	0	10556	1014	35	4	2481	4	NLRP5	19	56544907	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57371	56544907	2584076	13991	37493											
NLRP5	126206	broad.mit.edu	37	chr19	56572787	56572787	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaatggcagtaccctgtgCaaataaggaagctgctggag	13	7	14	7	0	0	0	0	0	0	0	0	3	0	3	1	4	4	5	1	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56572787C>T	ENST00000390649.3	+	15	3496	c.3496C>T	c.(3496-3498)Caa>Taa	p.Q1166*		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	1166						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTACCCTGTGCAAATAAGGAA	0.498													T	56572787	C	T	56572787	4	4	364	1	0	0	0	0	0	1	0	0	10556	711	25	2	3554	2	NLRP5	19	56572787	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27880	56572787	2556196	13992	37494											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56734042	56734042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagatccttctccaaggtCtgcttgggtctcagagactt	7	14	9	11	0	4	2	2	0	3	2	7	3	5	2	2	2	1	1	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56734042C>T	ENST00000587340.1	-	6	1352	c.657G>A	c.(655-657)caG>caA	p.Q219Q	ZSCAN5A_ENST00000587492.1_Silent_p.Q73Q|ZSCAN5A_ENST00000391713.1_Silent_p.Q219Q|ZSCAN5A_ENST00000592355.1_Silent_p.Q219Q|ZSCAN5A_ENST00000254165.3_Silent_p.Q102Q			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	219					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCTCCAAGGTCTGCTTGGGTC	0.488													T	56734042	C	T	56734042	2	4	364	1	0	0	0	0	0	0	0	1	18335	912	32	2		2	ZSCAN5A	19	56734042	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	161255	56734042	2394941	13993	37495											
ZNF583	147949	broad.mit.edu	37	chr19	56925731	56925731	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggagtttctgtttctaagCcagatgtgatctcattattg	9	16	9	7	0	3	2	1	1	3	1	4	3	3	3	1	1	1	2	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56925731C>A	ENST00000333201.9	+	4	364	c.154C>A	c.(154-156)Cca>Aca	p.P52T	ZNF583_ENST00000291598.7_Missense_Mutation_p.P52T	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	52	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		TGTTTCTAAGCCAGATGTGAT	0.433													A	56925731	C	A	56925731	3	1	364	1	0	0	0	0	1	0	0	0	18116	739	26	4	164	4	ZNF583	19	56925731	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	191689	56925731	2203252	13994	37496											
ZNF583	147949	broad.mit.edu	37	chr19	56935667	56935667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcatactatggagtcatTcttgactctttcctctccct	8	17	4	12	0	5	1	2	1	3	0	7	2	6	2	2	1	1	0	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56935667T>C	ENST00000333201.9	+	5	1850	c.1640T>C	c.(1639-1641)tTc>tCc	p.F547S	ZNF583_ENST00000585612.1_Intron|ZNF583_ENST00000291598.7_Missense_Mutation_p.F547S	NM_001159861.1|NM_152478.2	NP_001153333.1|NP_689691.2	Q96ND8	ZN583_HUMAN	zinc finger protein 583	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0564)		atggagtcattcttgactctt	0.428													C	56935667	T	C	56935667	3	2	364	1	0	0	0	0	1	0	0	0	18116	1783	62	3	1654	3	ZNF583	19	56935667	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9936	56935667	2193316	13995	37497											
ZNF667	63934	broad.mit.edu	37	chr19	56953758	56953758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagctttccccacatttattGcattcatggcttttctttcc	7	18	4	12	0	2	0	1	0	1	0	4	0	4	0	3	1	2	3	3	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56953758G>A	ENST00000504904.3	-	7	1325	c.606C>T	c.(604-606)tgC>tgT	p.C202C	ZNF667_ENST00000342634.3_Silent_p.C330C|ZNF667_ENST00000292069.6_Silent_p.C202C|ZNF667_ENST00000591790.1_3'UTR			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	202					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		CACATTTATTGCATTCATGGC	0.383													A	56953758	G	A	56953758	2	1	364	1	0	0	0	0	0	0	0	1	18175	1311	46	2		2	ZNF667	19	56953758	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18091	56953758	2175225	13996	37498											
ZNF667	63934	broad.mit.edu	37	chr19	56972075	56972075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaagcgagaccaggttcCggtaattctccaacatgaca	13	8	8	12	2	1	2	0	1	1	1	3	3	2	2	4	2	3	2	4	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:56972075C>T	ENST00000591790.1	-	3	1571	c.143G>A	c.(142-144)cGg>cAg	p.R48Q	ZNF667_ENST00000342634.3_Missense_Mutation_p.R141Q|ZNF667_ENST00000292069.6_Missense_Mutation_p.R48Q|ZNF667_ENST00000504904.3_Missense_Mutation_p.R48Q			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	48	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GACCAGGTTCCGGTAATTCTC	0.502													T	56972075	C	T	56972075	3	4	364	1	0	0	0	0	1	0	0	0	18175	652	23	1	1701	1	ZNF667	19	56972075	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18317	56972075	2156908	13997	37499											
ZNF471	57573	broad.mit.edu	37	chr19	57029857	57029857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttttatatgtaggtctttGcatttctaagccatatgtga	9	20	7	5	0	2	1	0	1	2	0	2	1	2	1	1	1	2	2	1	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57029857G>A	ENST00000308031.5	+	4	300	c.167G>A	c.(166-168)tGc>tAc	p.C56Y	ZNF471_ENST00000591537.1_Missense_Mutation_p.C56Y|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		GTAGGTCTTTGCATTTCTAAG	0.398													A	57029857	G	A	57029857	3	1	364	1	0	0	0	0	1	0	0	0	18031	1319	46	2	177	2	ZNF471	19	57029857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57782	57029857	2099126	13998	37500											
ZNF471	57573	broad.mit.edu	37	chr19	57036320	57036320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accatataaatgtaaggaatGcagaaaagccttcagacagc	18	7	8	8	0	1	2	1	0	0	2	1	3	1	3	2	1	3	2	2	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57036320G>A	ENST00000308031.5	+	5	1017	c.884G>A	c.(883-885)tGc>tAc	p.C295Y	ZNF471_ENST00000591537.1_Missense_Mutation_p.A155T|ZNF471_ENST00000593197.1_Intron	NM_020813.2	NP_065864.2	Q9BX82	ZN471_HUMAN	zinc finger protein 471	295					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(8)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0307)		TGTAAGGAATGCAGAAAAGCC	0.383													A	57036320	G	A	57036320	3	1	364	1	0	0	0	0	1	0	0	0	18031	1319	46	2	898	2	ZNF471	19	57036320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6463	57036320	2092663	13999	37501											
ZNF470	388566	broad.mit.edu	37	chr19	57089032	57089032	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcactgatcacataggacTtattcagcataagagaactc	14	12	6	9	0	3	2	3	1	0	1	4	4	3	3	0	1	2	1	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089032T>G	ENST00000330619.8	+	6	1921	c.1235T>G	c.(1234-1236)cTt>cGt	p.L412R	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L412R	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CACATAGGACTTATTCAGCAT	0.418													G	57089032	T	G	57089032	3	3	364	1	0	0	0	0	1	0	0	0	18030	1609	56	5	1249	5	ZNF470	19	57089032	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52712	57089032	2039951	14000	37502											
ZNF470	388566	broad.mit.edu	37	chr19	57089703	57089703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttagccatcgtaaatccCttactctgcatcagagaatt	11	13	5	12	1	2	1	1	0	1	1	4	2	3	1	3	0	3	2	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089703C>A	ENST00000330619.8	+	6	2592	c.1906C>A	c.(1906-1908)Ctt>Att	p.L636I	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.L636I	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		TCGTAAATCCCTTACTCTGCA	0.428													A	57089703	C	A	57089703	3	1	364	1	0	0	0	0	1	0	0	0	18030	681	24	4	1920	4	ZNF470	19	57089703	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	671	57089703	2039280	14001	37503											
ZNF470	388566	broad.mit.edu	37	chr19	57089730	57089730	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcatcagagaattcatacaGgagagaaaccttatgagtgt	15	10	10	6	0	2	3	2	1	0	2	2	6	2	4	1	1	3	1	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57089730G>T	ENST00000330619.8	+	6	2619	c.1933G>T	c.(1933-1935)Gga>Tga	p.G645*	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Nonsense_Mutation_p.G645*	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	645					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		AATTCATACAGGAGAGAAACC	0.413													T	57089730	G	T	57089730	4	4	364	1	0	0	0	0	0	1	0	0	18030	1001	35	4	1947	4	ZNF470	19	57089730	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	57089730	2039253	14002	37504											
ZNF71	58491	broad.mit.edu	37	chr19	57133187	57133187	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtccctcaccatccaccagCgggtgcacacgggcgagaag	9	4	12	16	4	1	1	1	0	0	1	3	2	3	1	4	2	2	1	4	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57133187C>A	ENST00000328070.6	+	3	766	c.532C>A	c.(532-534)Cgg>Agg	p.R178R		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	178						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		CATCCACCAGCGGGTGCACAC	0.617													A	57133187	C	A	57133187	2	1	364	1	0	0	0	0	0	0	0	1	18215	759	27	4		4	ZNF71	19	57133187	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43457	57133187	1995796	14003	37505											
ZNF71	58491	broad.mit.edu	37	chr19	57134091	57134091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccttcagccgcaacaCgaacctgacgcgccacctgc	11	4	9	17	4	1	2	1	1	0	1	1	4	1	2	5	0	4	1	5	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57134091C>T	ENST00000328070.6	+	3	1670	c.1436C>T	c.(1435-1437)aCg>aTg	p.T479M		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	479						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCGCAACACGAACCTGACG	0.642													T	57134091	C	T	57134091	3	4	364	1	0	0	0	0	1	0	0	0	18215	536	19	1	1438	1	ZNF71	19	57134091	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	904	57134091	1994892	14004	37506											
ZNF835	90485	broad.mit.edu	37	chr19	57176010	57176010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctcgcccgtgtgcgtgCgccagtgggacgccaggtac	4	8	15	14	5	1	0	0	0	1	0	2	1	1	1	3	2	3	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57176010C>T	ENST00000537055.2	-	2	788	c.557G>A	c.(556-558)cGc>cAc	p.R186H		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						CGTGTGCGTGCGCCAGTGGGA	0.721													T	57176010	C	T	57176010	3	4	364	1	0	0	0	0	1	0	0	0	18285	768	27	1	1058	1	ZNF835	19	57176010	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41919	57176010	1952973	14005	37507											
PEG3	5178	broad.mit.edu	37	chr19	57333113	57333113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaagggaaagatcccgcGgaggcatccctgggaagaaa	14	3	15	9	2	0	2	0	0	0	2	2	6	2	6	2	5	0	1	2	5	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57333113G>A	ENST00000326441.9	-	7	938	c.575C>T	c.(574-576)cCg>cTg	p.P192L	ZIM2_ENST00000593711.1_Missense_Mutation_p.P67L|PEG3_ENST00000423103.2_Missense_Mutation_p.P192L|PEG3_ENST00000598410.1_Missense_Mutation_p.P67L|ZIM2_ENST00000391708.3_Missense_Mutation_p.P67L|ZIM2_ENST00000601070.1_Missense_Mutation_p.P67L|ZIM2_ENST00000599935.1_Missense_Mutation_p.P67L|PEG3_ENST00000593695.1_Missense_Mutation_p.P66L|ZIM2_ENST00000221722.5_Missense_Mutation_p.P67L	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	192					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		AAGATCCCGCGGAGGCATCCC	0.552													A	57333113	G	A	57333113	3	1	364	1	0	0	0	0	1	0	0	0	11796	1116	39	1	4210	1	PEG3	19	57333113	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157103	57333113	1795870	14006	37508											
USP29	57663	broad.mit.edu	37	chr19	57641354	57641354	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattgcagctctcccttatTtgtaaagcttgtggtcatgc	8	15	9	9	0	2	0	1	0	1	0	3	1	2	0	1	1	4	4	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641354T>A	ENST00000254181.4	+	4	1765	c.1311T>A	c.(1309-1311)atT>atA	p.I437I	USP29_ENST00000598197.1_Silent_p.I437I	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	437					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		TCTCCCTTATTTGTAAAGCTT	0.398													A	57641354	T	A	57641354	2	1	364	1	0	0	0	0	0	0	0	1	17161	1829	64	5		5	USP29	19	57641354	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	308241	57641354	1487629	14007	37509											
USP29	57663	broad.mit.edu	37	chr19	57641872	57641872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagattccagagagactGtggagatgcaagccaagagc	16	5	12	8	0	0	5	0	0	0	5	1	7	1	5	2	1	3	1	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57641872G>A	ENST00000254181.4	+	4	2283	c.1829G>A	c.(1828-1830)tGt>tAt	p.C610Y	USP29_ENST00000598197.1_Missense_Mutation_p.C610Y	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	610					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGAGAGACTGTGGAGATGCA	0.478													A	57641872	G	A	57641872	3	1	364	1	0	0	0	0	1	0	0	0	17161	1377	48	2	1831	2	USP29	19	57641872	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	518	57641872	1487111	14008	37510											
DUXA	503835	broad.mit.edu	37	chr19	57669820	57669820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaggcgctgtaggtggtaCgacaccgtctggcttctcta	7	10	14	10	3	2	1	0	0	2	1	3	3	2	1	1	4	1	4	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57669820C>T	ENST00000554048.2	-	4	313	c.314G>A	c.(313-315)cGt>cAt	p.R105H		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	105						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTAGGTGGTACGACACCGTCT	0.468													T	57669820	C	T	57669820	3	4	364	1	0	0	0	0	1	0	0	0	4873	536	19	1	312	1	DUXA	19	57669820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27948	57669820	1459163	14009	37511											
ZNF264	9422	broad.mit.edu	37	chr19	57723301	57723301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataccttacccagcaccagcGgattcacagtggagagaagc	13	6	10	12	1	1	1	1	0	0	1	1	4	1	3	3	2	5	1	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57723301G>A	ENST00000263095.6	+	4	1250	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	ZNF264_ENST00000536056.1_Missense_Mutation_p.R279Q	NM_003417.4	NP_003408.1	O43296	ZN264_HUMAN	zinc finger protein 264	279					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(8)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	27		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0135)		CAGCACCAGCGGATTCACAGT	0.517													A	57723301	G	A	57723301	3	1	364	1	0	0	0	0	1	0	0	0	17905	1116	39	1	850	1	ZNF264	19	57723301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53481	57723301	1405682	14010	37512											
ZNF805	390980	broad.mit.edu	37	chr19	57755401	57755401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgatgctggaaaactgtggGctcctggtatctctgggtaa	8	12	14	7	0	1	1	0	1	1	0	3	2	2	2	1	4	2	4	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57755401G>A	ENST00000414468.2	+	2	141	c.141G>A	c.(139-141)ggG>ggA	p.G47G	ZNF805_ENST00000535550.1_Intron|ZNF805_ENST00000354309.4_Intron	NM_001023563.3	NP_001018857.2	Q5CZA5	ZN805_HUMAN	zinc finger protein 805	47	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|lung(1)|stomach(1)	9						AAAACTGTGGGCTCCTGGTAT	0.592													A	57755401	G	A	57755401	2	1	364	1	0	0	0	0	0	0	0	1	18271	1190	42	2		2	ZNF805	19	57755401	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32100	57755401	1373582	14011	37513											
ZNF543	125919	broad.mit.edu	37	chr19	57835094	57835094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgacattcacccaggaGgagtggggacagttggatgc	9	8	16	8	0	1	1	1	1	0	0	1	5	1	5	1	5	1	2	1	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57835094G>T	ENST00000321545.4	+	2	408	c.63G>T	c.(61-63)gaG>gaT	p.E21D		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	21	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCACCCAGGAGGAGTGGGGAC	0.507													T	57835094	G	T	57835094	3	4	364	1	0	0	0	0	1	0	0	0	18077	991	35	4	69	4	ZNF543	19	57835094	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79693	57835094	1293889	14012	37514											
ZNF304	57343	broad.mit.edu	37	chr19	57865197	57865197	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgatgtgatgctggagaaCtttgcacttgtggctacact	8	13	12	8	1	0	3	0	2	0	1	0	4	0	3	0	2	4	3	0	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57865197C>A	ENST00000391705.3	+	3	422	c.138C>A	c.(136-138)aaC>aaA	p.N46K	ZNF304_ENST00000282286.5_Missense_Mutation_p.N46K|ZNF304_ENST00000443917.2_Missense_Mutation_p.N46K|ZNF304_ENST00000598744.1_Missense_Mutation_p.N4K	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	46	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		TGCTGGAGAACTTTGCACTTG	0.438													A	57865197	C	A	57865197	3	1	364	1	0	0	0	0	1	0	0	0	17934	564	20	4	144	4	ZNF304	19	57865197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30103	57865197	1263786	14013	37515											
ZNF304	57343	broad.mit.edu	37	chr19	57869057	57869057	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcattctgcaccagaGggttcacactggagaaaagc	11	8	11	11	0	3	2	2	0	1	2	3	3	3	2	2	3	2	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57869057G>T	ENST00000391705.3	+	4	2104	c.1820G>T	c.(1819-1821)aGg>aTg	p.R607M	ZNF304_ENST00000282286.5_Missense_Mutation_p.R607M|ZNF304_ENST00000443917.2_Missense_Mutation_p.R654M|ZNF304_ENST00000598744.1_Missense_Mutation_p.R565M	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	607					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		CTGCACCAGAGGGTTCACACT	0.478													T	57869057	G	T	57869057	3	4	364	1	0	0	0	0	1	0	0	0	17934	1000	35	4	1830	4	ZNF304	19	57869057	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3860	57869057	1259926	14014	37516											
ZNF547	284306	broad.mit.edu	37	chr19	57888581	57888581	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcatggctccaaagccCtgtctatctacccagaatac	11	9	7	14	0	3	1	1	0	2	1	4	1	4	1	3	2	3	1	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888581C>A	ENST00000282282.3	+	4	387	c.237C>A	c.(235-237)ccC>ccA	p.P79P	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	79	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CTCCAAAGCCCTGTCTATCTA	0.517													A	57888581	C	A	57888581	2	1	364	1	0	0	0	0	0	0	0	1	18080	668	24	4		4	ZNF547	19	57888581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19524	57888581	1240402	14015	37517											
ZNF547	284306	broad.mit.edu	37	chr19	57888834	57888834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcagtgaatgtgggaaaGcctttagccacaaacataaa	15	9	10	7	0	0	1	0	1	0	0	0	2	0	2	2	1	4	1	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888834G>T	ENST00000282282.3	+	4	640	c.490G>T	c.(490-492)Gcc>Tcc	p.A164S	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	164					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATGTGGGAAAGCCTTTAGCCA	0.428													T	57888834	G	T	57888834	3	4	364	1	0	0	0	0	1	0	0	0	18080	971	34	4	500	4	ZNF547	19	57888834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	253	57888834	1240149	14016	37518											
ZNF547	284306	broad.mit.edu	37	chr19	57888885	57888885	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaaatccacactggaGaaagaacttataagtgcagc	18	7	8	8	0	1	3	1	0	0	3	2	4	2	3	1	1	3	1	1	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57888885G>T	ENST00000282282.3	+	4	691	c.541G>T	c.(541-543)Gaa>Taa	p.E181*	AC003002.4_ENST00000597658.1_Intron	NM_173631.2	NP_775902.2	Q8IVP9	ZN547_HUMAN	zinc finger protein 547	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CCACACTGGAGAAAGAACTTA	0.428													T	57888885	G	T	57888885	4	4	364	1	0	0	0	0	0	1	0	0	18080	943	33	4	551	4	ZNF547	19	57888885	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51	57888885	1240098	14017	37519											
ZNF749	388567	broad.mit.edu	37	chr19	57955361	57955361	+	Frame_Shift_Del	DEL	G	G	-																															tgaaggctttctttcaaaaaGgtctgaccccattgaacatc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57955361delG	ENST00000334181.4	+	3	1095	c.845delG	c.(844-846)aggfs	p.R282fs	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		CTTTCAAAAAGGTCTGACCCC	0.443													-	57955361	G	-	57955361	7	5	364	1	0	1	0	1	0	0	0	0	18231	1000	35	0	855	0	ZNF749	19	57955361	Frame_Shift_Del	DEL	G	TCGA-DU-6392-01A-11D-1705-08	66476	57955361	1173622	14018	37520											
ZNF772	400720	broad.mit.edu	37	chr19	57987134	57987134	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagaagtacacgaacacGtcctcaaagttcacctgccc	12	7	9	13	2	2	1	2	0	0	1	3	3	3	1	3	1	3	2	3	1	4	2	rs140078393		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57987134G>A	ENST00000343280.4	-	3	353	c.93C>T	c.(91-93)gaC>gaT	p.D31D	ZNF772_ENST00000356584.3_Silent_p.D31D|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000425074.3_Intron|AC004076.9_ENST00000596831.1_Silent_p.D31D|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	31	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.D31D(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		ACACGAACACGTCCTCAAAGT	0.567													A	57987134	G	A	57987134	2	1	364	1	0	0	0	0	0	0	0	1	18244	1136	40	1		1	ZNF772	19	57987134	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31773	57987134	1141849	14019	37521											
ZNF772	400720	broad.mit.edu	37	chr19	57988041	57988041	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgagttcatgggaacCtgtggggaagagggagacta	11	9	15	6	0	2	3	1	1	1	2	2	6	2	5	1	4	1	1	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:57988041C>A	ENST00000343280.4	-	2	294		c.e2-1		ZNF772_ENST00000356584.3_Splice_Site|ZNF772_ENST00000600175.1_Splice_Site|AC004076.9_ENST00000415705.3_Splice_Site|ZNF772_ENST00000425074.3_Splice_Site|AC004076.9_ENST00000596831.1_Splice_Site|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Intron	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		TCATGGGAACCTGTGGGGAAG	0.527													A	57988041	C	A	57988041	5	1	364	1	0	0	0	0	0	0	1	0	18244	695	24	4	1452	4	ZNF772	19	57988041	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	907	57988041	1140942	14020	37522											
ZNF549	256051	broad.mit.edu	37	chr19	58049264	58049264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgggcaccagcagagaattCacactagagaaaggtcttat	14	9	10	8	0	2	2	1	0	1	2	2	4	2	2	1	2	1	2	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049264C>T	ENST00000376233.3	+	4	1073	c.892C>T	c.(892-894)Cac>Tac	p.H298Y	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.H285Y|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	298					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GCAGAGAATTCACACTAGAGA	0.433													T	58049264	C	T	58049264	3	4	364	1	0	0	0	0	1	0	0	0	18082	826	29	2	863	2	ZNF549	19	58049264	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61223	58049264	1079719	14021	37523											
ZNF549	256051	broad.mit.edu	37	chr19	58049682	58049682	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagacttcttgagcaccagaGaattcatactggagaaaagc	16	8	9	8	0	2	4	1	1	1	3	2	6	2	4	1	1	3	1	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58049682G>A	ENST00000376233.3	+	4	1491	c.1310G>A	c.(1309-1311)aGa>aAa	p.R437K	ZNF550_ENST00000601415.1_Intron|ZNF549_ENST00000240719.3_Missense_Mutation_p.R424K|ZNF549_ENST00000602149.1_Intron|ZNF549_ENST00000594943.1_Intron	NM_001199295.1	NP_001186224	Q6P9A3	ZN549_HUMAN	zinc finger protein 549	437					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		GAGCACCAGAGAATTCATACT	0.433													A	58049682	G	A	58049682	3	1	364	1	0	0	0	0	1	0	0	0	18082	942	33	2	1281	2	ZNF549	19	58049682	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	418	58049682	1079301	14022	37524											
ZNF416	55659	broad.mit.edu	37	chr19	58084983	58084983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttctgggtggatggacTggcctctggagtcctgacct	6	12	13	10	0	3	1	0	1	3	0	4	4	4	4	3	5	0	0	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58084983T>C	ENST00000196489.3	-	4	511	c.289A>G	c.(289-291)Agt>Ggt	p.S97G		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	97	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGGATGGACTGGCCTCTGGA	0.498													C	58084983	T	C	58084983	3	2	364	1	0	0	0	0	1	0	0	0	17994	1580	55	3	1499	3	ZNF416	19	58084983	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	35301	58084983	1044000	14023	37525											
ZIK1	284307	broad.mit.edu	37	chr19	58102102	58102102	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaattatttagacaaaactCcagccttgttgaccaccaga	16	10	5	10	0	0	3	0	1	0	2	1	3	1	3	4	0	2	1	4	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58102102C>A	ENST00000597850.1	+	4	1138	c.923C>A	c.(922-924)tCc>tAc	p.S308Y	ZIK1_ENST00000307468.4_3'UTR|ZIK1_ENST00000536878.2_Missense_Mutation_p.S295Y|ZIK1_ENST00000599456.1_Missense_Mutation_p.S253Y	NM_001010879.2	NP_001010879.2	Q3SY52	ZIK1_HUMAN	zinc finger protein interacting with K protein 1	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	34		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AGACAAAACTCCAGCCTTGTT	0.453													A	58102102	C	A	58102102	3	1	364	1	0	0	0	0	1	0	0	0	17784	855	30	4	937	4	ZIK1	19	58102102	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17119	58102102	1026881	14024	37526											
ZNF134	7693	broad.mit.edu	37	chr19	58131538	58131538	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcaggttgttggcaTgaagtgaaggatgaagagtc	10	11	14	6	0	1	4	1	3	0	1	2	5	1	5	1	3	1	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58131538T>C	ENST00000396161.5	+	3	361	c.51T>C	c.(49-51)caT>caC	p.H17H	ZNF134_ENST00000597975.1_3'UTR	NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	17						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GTTGTTGGCATGAAGTGAAGG	0.458													C	58131538	T	C	58131538	2	2	364	1	0	0	0	0	0	0	0	1	17825	1461	51	3		3	ZNF134	19	58131538	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29436	58131538	997445	14025	37527											
ZNF134	7693	broad.mit.edu	37	chr19	58132515	58132515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcacactgagtcaaagcCgtttgagtgcattgaatgcg	12	11	10	8	2	2	3	2	3	0	0	2	3	2	3	1	0	3	2	1	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58132515C>T	ENST00000396161.5	+	3	1338	c.1028C>T	c.(1027-1029)cCg>cTg	p.P343L		NM_003435.3	NP_003426.3	P52741	ZN134_HUMAN	zinc finger protein 134	343						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(3)|prostate(1)	11		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		GAGTCAAAGCCGTTTGAGTGC	0.428													T	58132515	C	T	58132515	3	4	364	1	0	0	0	0	1	0	0	0	17825	652	23	1	1034	1	ZNF134	19	58132515	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	977	58132515	996468	14026	37528											
ZNF211	10520	broad.mit.edu	37	chr19	58152302	58152302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctacatcagtgcaaatCttcaacagcaccagaggcag	15	8	7	11	0	4	1	2	0	2	1	4	1	4	1	1	1	4	3	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58152302C>A	ENST00000544273.1	+	5	811	c.484C>A	c.(484-486)Ctt>Att	p.L162I	ZNF211_ENST00000541801.1_Missense_Mutation_p.L141I|ZNF211_ENST00000420680.1_Missense_Mutation_p.L154I|ZNF211_ENST00000391703.3_Missense_Mutation_p.L89I|ZNF211_ENST00000240731.4_Missense_Mutation_p.L163I|ZNF211_ENST00000299871.5_Missense_Mutation_p.L215I|ZNF211_ENST00000254182.7_Missense_Mutation_p.L141I|ZNF211_ENST00000347302.3_Missense_Mutation_p.L150I			Q13398	ZN211_HUMAN	zinc finger protein 211	150						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CAGTGCAAATCTTCAACAGCA	0.458													A	58152302	C	A	58152302	3	1	364	1	0	0	0	0	1	0	0	0	17868	913	32	4	501	4	ZNF211	19	58152302	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19787	58152302	976681	14027	37529											
ZNF551	90233	broad.mit.edu	37	chr19	58198994	58198994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaccttatgaatgcagaGaatgtgggaaatcctttaga	16	10	10	5	0	0	4	0	1	0	3	1	6	1	5	2	1	1	1	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58198994G>A	ENST00000282296.5	+	3	1536	c.1351G>A	c.(1351-1353)Gaa>Aaa	p.E451K	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.E435K|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	451					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAATGCAGAGAATGTGGGAA	0.428													A	58198994	G	A	58198994	3	1	364	1	0	0	0	0	1	0	0	0	18084	943	33	2	1313	2	ZNF551	19	58198994	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46692	58198994	929989	14028	37530											
ZNF154	7710	broad.mit.edu	37	chr19	58213677	58213677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcacattcatgaggtcgtaCtgcagtgtgaactctccggt	9	12	10	10	2	3	2	2	2	1	0	5	2	3	2	1	2	3	2	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58213677C>A	ENST00000512439.2	-	3	836	c.640G>T	c.(640-642)Gta>Tta	p.V214L	ZNF551_ENST00000596085.1_Intron|ZNF154_ENST00000426889.1_Missense_Mutation_p.V214L|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron			Q13106	ZN154_HUMAN	zinc finger protein 154	214						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(3)	12		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGAGGTCGTACTGCAGTGTGA	0.443													A	58213677	C	A	58213677	3	1	364	1	0	0	0	0	1	0	0	0	17836	565	20	4	677	4	ZNF154	19	58213677	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14683	58213677	915306	14029	37531											
ZNF671	79891	broad.mit.edu	37	chr19	58232137	58232137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attctccagtgtacattaagGtgggagctttggctaaaggc	10	12	12	7	0	1	0	0	0	1	0	2	1	1	1	1	4	2	3	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232137G>A	ENST00000317398.6	-	4	1412	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	ZNF671_ENST00000335820.3_Silent_p.H341H|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTACATTAAGGTGGGAGCTTT	0.463													A	58232137	G	A	58232137	2	1	364	1	0	0	0	0	0	0	0	1	18179	1252	44	2		2	ZNF671	19	58232137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18460	58232137	896846	14030	37532											
ZNF671	79891	broad.mit.edu	37	chr19	58232809	58232809	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggaaaagtttccctccAttgggctggttctggtgctg	5	14	13	9	0	1	0	0	0	1	0	3	1	3	1	2	4	1	4	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58232809A>G	ENST00000317398.6	-	4	740	c.645T>C	c.(643-645)aaT>aaC	p.N215N	ZNF671_ENST00000335820.3_Silent_p.N117N|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GTTTCCCTCCATTGGGCTGGT	0.517													G	58232809	A	G	58232809	2	3	364	1	0	0	0	0	0	0	0	1	18179	214	8	3		3	ZNF671	19	58232809	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	672	58232809	896174	14031	37533											
ZNF776	284309	broad.mit.edu	37	chr19	58262160	58262160	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcacggcagggcactgTgacctttgaagatgtggctg	9	10	13	9	1	2	3	2	2	0	1	2	3	2	3	1	3	0	3	1	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58262160T>C	ENST00000317178.5	+	2	304	c.41T>C	c.(40-42)gTg>gCg	p.V14A	ZNF776_ENST00000431353.1_Missense_Mutation_p.V14A|AC003006.7_ENST00000594684.1_Missense_Mutation_p.V14A	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		CAGGGCACTGTGACCTTTGAA	0.498													C	58262160	T	C	58262160	3	2	364	1	0	0	0	0	1	0	0	0	18248	1696	59	3	47	3	ZNF776	19	58262160	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	29351	58262160	866823	14032	37534											
ZNF776	284309	broad.mit.edu	37	chr19	58264658	58264658	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcattttatttcttttaGgttgttggtatggagcaaaa	10	17	9	5	0	1	0	0	0	1	0	1	1	1	1	1	3	2	5	1	3	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58264658G>T	ENST00000431353.1	+	3	395	c.177G>T	c.(175-177)taG>taT	p.*59Y	ZNF776_ENST00000317178.5_Splice_Site|AC003006.7_ENST00000594684.1_Splice_Site					zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		ATTTCTTTTAGGTTGTTGGTA	0.408													T	58264658	G	T	58264658	4	4	364	1	0	0	0	0	0	0	0	0	18248	1014	35	4	170	4	ZNF776	19	58264658	Nonstop_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2498	58264658	864325	14033	37535											
ZNF586	54807	broad.mit.edu	37	chr19	58301644	58301644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatccccatcataacagagCagtgtgacctttgaagacgt	12	10	8	11	1	1	4	1	2	0	2	2	4	2	4	3	0	2	1	3	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58301644C>T	ENST00000598183.1	+	2	215	c.39C>T	c.(37-39)agC>agT	p.S13S	ZNF586_ENST00000599802.1_Intron|ZNF586_ENST00000598885.1_Silent_p.S13S			Q9NXT0	ZN586_HUMAN	zinc finger protein 586	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATAACAGAGCAGTGTGACCT	0.488													T	58301644	C	T	58301644	2	4	364	1	0	0	0	0	0	0	0	1	18120	725	25	2		2	ZNF586	19	58301644	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36986	58301644	827339	14034	37536											
ZNF417	147687	broad.mit.edu	37	chr19	58420585	58420585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatttcccacattccccaCagtgataagctctctctcca	11	11	4	15	0	2	2	0	1	2	1	6	2	4	2	4	0	1	1	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420585C>T	ENST00000312026.5	-	3	1225	c.1061G>A	c.(1060-1062)tGt>tAt	p.C354Y	ZNF417_ENST00000536263.1_Missense_Mutation_p.C155Y|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.C353Y	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		ACATTCCCCACAGTGATAAGC	0.428													T	58420585	C	T	58420585	3	4	364	1	0	0	0	0	1	0	0	0	17995	478	17	2	670	2	ZNF417	19	58420585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118941	58420585	708398	14035	37537											
ZNF417	147687	broad.mit.edu	37	chr19	58420783	58420783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtctttccagtgtggactCgctgatgttgaataaggctg	7	14	12	8	1	1	2	0	2	1	0	3	3	2	3	1	2	0	3	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58420783C>T	ENST00000312026.5	-	3	1027	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	ZNF417_ENST00000536263.1_Missense_Mutation_p.R89Q|CTD-2583A14.9_ENST00000602124.1_Intron|ZNF417_ENST00000595559.1_Missense_Mutation_p.R287Q	NM_152475.2	NP_689688.2	Q8TAU3	ZN417_HUMAN	zinc finger protein 417	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|stomach(3)|upper_aerodigestive_tract(1)	18		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0151)		AGTGTGGACTCGCTGATGTTG	0.458													T	58420783	C	T	58420783	3	4	364	1	0	0	0	0	1	0	0	0	17995	884	31	1	868	1	ZNF417	19	58420783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198	58420783	708200	14036	37538											
ZNF418	147686	broad.mit.edu	37	chr19	58438335	58438335	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccctttcgactaaaagatTtcccacattctccacactca	11	12	3	15	1	2	1	1	0	1	1	6	2	4	1	3	0	0	0	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58438335T>G	ENST00000396147.1	-	4	1505	c.1214A>C	c.(1213-1215)aAa>aCa	p.K405T	ZNF418_ENST00000600989.1_Intron|ZNF418_ENST00000595830.1_Missense_Mutation_p.K405T|ZNF418_ENST00000425570.3_Missense_Mutation_p.K426T|ZNF418_ENST00000599852.1_Missense_Mutation_p.K320T	NM_133460.1	NP_597717.1	Q8TF45	ZN418_HUMAN	zinc finger protein 418	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0158)		ACTAAAAGATTTCCCACATTC	0.433													G	58438335	T	G	58438335	3	3	364	1	0	0	0	0	1	0	0	0	17996	1841	64	5	820	5	ZNF418	19	58438335	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	17552	58438335	690648	14037	37539											
ZNF606	80095	broad.mit.edu	37	chr19	58490723	58490723	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccgttcatgtttcgtaaggGctgagcgattcctaaaaact	10	13	9	9	3	1	1	1	1	0	0	4	2	3	1	2	1	2	4	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58490723G>T	ENST00000341164.4	-	7	1945	c.1325C>A	c.(1324-1326)gCc>gAc	p.A442D	ZNF606_ENST00000536132.1_Missense_Mutation_p.A352D	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	442					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTCGTAAGGGCTGAGCGATT	0.363													T	58490723	G	T	58490723	3	4	364	1	0	0	0	0	1	0	0	0	18133	1203	42	4	1057	4	ZNF606	19	58490723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52388	58490723	638260	14038	37540											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549309	58549309	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaagccccagggacaccgaAgcccagcgtctgcgcttccg	8	4	12	17	4	1	0	0	0	1	0	2	2	2	1	5	1	4	2	5	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58549309A>G	ENST00000282326.1	+	3	352	c.105A>G	c.(103-105)gaA>gaG	p.E35E	ZSCAN1_ENST00000601162.1_Silent_p.E35E|ZSCAN1_ENST00000391700.1_Silent_p.E35E	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	35					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGGACACCGAAGCCCAGCGTC	0.716													G	58549309	A	G	58549309	2	3	364	1	0	0	0	0	0	0	0	1	18325	69	3	3		3	ZSCAN1	19	58549309	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	58586	58549309	579674	14039	37541											
ZSCAN1	284312	broad.mit.edu	37	chr19	58564856	58564856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgagcctgaggaccttctcGcagggccctcctcagacctg	7	7	11	16	2	2	2	1	1	1	1	4	4	3	3	5	2	1	1	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58564856G>A	ENST00000282326.1	+	6	911	c.664G>A	c.(664-666)Gca>Aca	p.A222T		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	222					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGACCTTCTCGCAGGGCCCTC	0.622													A	58564856	G	A	58564856	3	1	364	1	0	0	0	0	1	0	0	0	18325	1087	38	1	678	1	ZSCAN1	19	58564856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15547	58564856	564127	14040	37542											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596375	58596375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgcgggacaagcccggctCgtcagccccagggccctgcc	5	3	13	20	4	1	0	1	0	0	0	2	1	1	1	6	3	3	1	6	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58596375C>T	ENST00000240727.6	-	7	1609	c.1210G>A	c.(1210-1212)Gag>Aag	p.E404K	ZSCAN18_ENST00000421612.2_Missense_Mutation_p.E268K|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.E460K|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.E404K	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	404					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		AAGCCCGGCTCGTCAGCCCCA	0.736													T	58596375	C	T	58596375	3	4	364	1	0	0	0	0	1	0	0	0	18328	893	31	1	326	1	ZSCAN18	19	58596375	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31519	58596375	532608	14041	37543											
ZNF329	79673	broad.mit.edu	37	chr19	58640145	58640145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacaatcaggttgtagttCttggagaaggactttccaca	11	12	10	8	0	2	1	1	0	1	1	3	3	3	2	1	3	1	4	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640145C>A	ENST00000598312.1	-	4	959	c.726G>T	c.(724-726)aaG>aaT	p.K242N	ZNF329_ENST00000358067.4_Missense_Mutation_p.K242N	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		GGTTGTAGTTCTTGGAGAAGG	0.448													A	58640145	C	A	58640145	3	1	364	1	0	0	0	0	1	0	0	0	17948	912	32	4	903	4	ZNF329	19	58640145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43770	58640145	488838	14042	37544											
ZNF329	79673	broad.mit.edu	37	chr19	58640739	58640739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgattgcctcaagtgtccCtcctggttctcacagtccca	6	12	8	15	0	2	1	2	1	1	0	6	1	5	1	4	1	1	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58640739C>T	ENST00000598312.1	-	4	365	c.132G>A	c.(130-132)gaG>gaA	p.E44E	ZNF329_ENST00000358067.4_Silent_p.E44E	NM_024620.3	NP_078896.3	Q86UD4	ZN329_HUMAN	zinc finger protein 329	44					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(10)|lung(5)|skin(3)|urinary_tract(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.029)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.017)|Lung(386;0.216)		TCAAGTGTCCCTCCTGGTTCT	0.473													T	58640739	C	T	58640739	2	4	364	1	0	0	0	0	0	0	0	1	17948	680	24	2		2	ZNF329	19	58640739	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	594	58640739	488244	14043	37545											
ZNF274	10782	broad.mit.edu	37	chr19	58697164	58697164	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacagaagtccctgtacaGggaagtgatgctggagaact	14	7	12	8	0	0	3	0	1	0	2	1	5	1	4	1	2	4	2	1	2	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58697164G>T	ENST00000326804.4	+	3	578	c.119G>T	c.(118-120)aGg>aTg	p.R40M	ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000424679.2_Intron|ZNF274_ENST00000345813.3_Missense_Mutation_p.R40M	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	40	KRAB 1.				viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		TCCCTGTACAGGGAAGTGATG	0.498													T	58697164	G	T	58697164	3	4	364	1	0	0	0	0	1	0	0	0	17910	1000	35	4	125	4	ZNF274	19	58697164	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56425	58697164	431819	14044	37546											
ZNF274	10782	broad.mit.edu	37	chr19	58724255	58724255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatgtcaggagtgtgggAggaccttcaatgatcgctca	10	11	13	7	1	3	2	3	2	0	0	4	5	3	5	1	3	0	1	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58724255A>G	ENST00000326804.4	+	9	2164	c.1705A>G	c.(1705-1707)Agg>Ggg	p.R569G	ZNF274_ENST00000424679.2_Missense_Mutation_p.R464G|ZNF274_ENST00000597818.1_3'UTR|ZNF274_ENST00000345813.3_Missense_Mutation_p.R537G	NM_001278734.1|NM_133502.1	NP_001265663.1|NP_598009.1	Q96GC6	ZN274_HUMAN	zinc finger protein 274	570					viral reproduction	centrosome|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)|skin(1)	21		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.215)		GGAGTGTGGGAGGACCTTCAA	0.522													G	58724255	A	G	58724255	3	3	364	1	0	0	0	0	1	0	0	0	17910	295	11	3	1733	3	ZNF274	19	58724255	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	27091	58724255	404728	14045	37547											
ZNF544	27300	broad.mit.edu	37	chr19	58773033	58773033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactacagagaagccatCtgtgtgtaatcagtgtggaa	13	10	11	7	0	3	2	2	0	1	2	3	4	3	3	1	1	2	1	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773033C>A	ENST00000269829.4	+	7	1535	c.1061C>A	c.(1060-1062)tCt>tAt	p.S354Y	ZNF544_ENST00000596652.1_Missense_Mutation_p.S354Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S326Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S212Y|ZNF544_ENST00000600220.1_Missense_Mutation_p.S326Y|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	354					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		GAGAAGCCATCTGTGTGTAAT	0.473													A	58773033	C	A	58773033	3	1	364	1	0	0	0	0	1	0	0	0	18078	913	32	4	1075	4	ZNF544	19	58773033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48778	58773033	355950	14046	37548											
ZNF544	27300	broad.mit.edu	37	chr19	58773135	58773135	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtactcagtgtgggaaatCttttagccagagctatgacc	11	12	10	8	0	2	2	1	1	1	1	2	3	2	3	2	1	3	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58773135C>A	ENST00000269829.4	+	7	1637	c.1163C>A	c.(1162-1164)tCt>tAt	p.S388Y	ZNF544_ENST00000596652.1_Missense_Mutation_p.S388Y|CTD-3138B18.5_ENST00000597230.1_RNA|ZNF544_ENST00000600044.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000596929.1_Intron|ZNF544_ENST00000415203.2_Missense_Mutation_p.S360Y|ZNF544_ENST00000599227.1_3'UTR|ZNF544_ENST00000599953.1_Missense_Mutation_p.S246Y|ZNF544_ENST00000600220.1_Missense_Mutation_p.S360Y|ZNF544_ENST00000595981.1_Intron|CTD-3138B18.4_ENST00000600029.1_Intron|ZNF544_ENST00000596825.1_3'UTR	NM_014480.2	NP_055295.2	Q6NX49	ZN544_HUMAN	zinc finger protein 544	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)|urinary_tract(1)	18		all_cancers(17;4.17e-12)|all_epithelial(17;1.25e-08)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.17)|GBM - Glioblastoma multiforme(193;0.018)		TGTGGGAAATCTTTTAGCCAG	0.463													A	58773135	C	A	58773135	3	1	364	1	0	0	0	0	1	0	0	0	18078	913	32	4	1177	4	ZNF544	19	58773135	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	58773135	355848	14047	37549											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846361	58846361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaggcatctggtccacacGaggccctggcccacctccga	8	5	12	16	2	1	0	0	0	1	0	3	3	3	1	5	5	0	1	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58846361G>A	ENST00000329665.4	+	2	340	c.193G>A	c.(193-195)Gag>Aag	p.E65K		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	65	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TGGTCCACACGAGGCCCTGGC	0.642													A	58846361	G	A	58846361	3	1	364	1	0	0	0	0	1	0	0	0	18332	1059	37	1	195	1	ZSCAN22	19	58846361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	73226	58846361	282622	14048	37550											
ZSCAN22	342945	broad.mit.edu	37	chr19	58850499	58850499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgatccgacatctgaGaatccactctggagagaagc	12	7	10	12	1	2	3	0	2	2	2	4	7	4	4	3	1	2	0	3	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58850499G>T	ENST00000329665.4	+	3	1430	c.1283G>T	c.(1282-1284)aGa>aTa	p.R428I		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	428					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CGACATCTGAGAATCCACTCT	0.572													T	58850499	G	T	58850499	3	4	364	1	0	0	0	0	1	0	0	0	18332	942	33	4	1289	4	ZSCAN22	19	58850499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4138	58850499	278484	14049	37551											
A1BG	1	broad.mit.edu	37	chr19	58862761	58862761	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggccccggctcaccatcGctcagaatcagctcgaccgg	7	6	11	17	4	3	1	3	0	0	1	5	2	3	1	4	3	1	4	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58862761G>A	ENST00000263100.3	-	5	967	c.906C>T	c.(904-906)agC>agT	p.S302S	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	302	Ig-like V-type 4.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		GCTCACCATCGCTCAGAATCA	0.667													A	58862761	G	A	58862761	2	1	364	1	0	0	0	0	0	0	0	1	1	1078	38	1		1	A1BG	19	58862761	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12262	58862761	266222	14050	37552											
ZNF497	162968	broad.mit.edu	37	chr19	58868478	58868478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggtggtggatgagctgcGagtgcgcgcggaaggccttg	5	8	19	9	4	0	1	0	1	0	0	0	4	0	3	2	5	3	1	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868478G>A	ENST00000311044.3	-	3	712	c.524C>T	c.(523-525)tCg>tTg	p.S175L	ZNF497_ENST00000425453.3_Missense_Mutation_p.S175L|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		GATGAGCTGCGAGTGCGCGCG	0.677													A	58868478	G	A	58868478	3	1	364	1	0	0	0	0	1	0	0	0	18047	1059	37	1	976	1	ZNF497	19	58868478	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5717	58868478	260505	14051	37553											
ZNF497	162968	broad.mit.edu	37	chr19	58868797	58868797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctccctgccggggcCtccctgttcgtccgccgccc	1	7	11	22	4	0	0	0	0	0	0	4	0	3	0	8	2	2	2	8	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58868797C>A	ENST00000311044.3	-	3	393	c.205G>T	c.(205-207)Ggc>Tgc	p.G69C	ZNF497_ENST00000425453.3_Missense_Mutation_p.G69C|CTD-2619J13.8_ENST00000599109.1_RNA	NM_198458.2	NP_940860.2	Q6ZNH5	ZN497_HUMAN	zinc finger protein 497	69					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|lung(3)|skin(2)	7		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0278)		CTGCCGGGGCCTCCCTGTTCG	0.746													A	58868797	C	A	58868797	3	1	364	1	0	0	0	0	1	0	0	0	18047	681	24	4	1295	4	ZNF497	19	58868797	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319	58868797	260186	14052	37554											
ZNF132	7691	broad.mit.edu	37	chr19	58945037	58945037	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcttttctccagtatgaaCtttctgatgcttaatgagaa	11	15	8	7	0	2	3	0	3	2	1	3	4	2	3	1	1	2	3	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58945037C>A	ENST00000254166.3	-	3	2174	c.1774G>T	c.(1774-1776)Gtt>Ttt	p.V592F		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	592						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		CCAGTATGAACTTTCTGATGC	0.393													A	58945037	C	A	58945037	3	1	364	1	0	0	0	0	1	0	0	0	17823	565	20	4	350	4	ZNF132	19	58945037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76240	58945037	183946	14053	37555											
ZNF324B	388569	broad.mit.edu	37	chr19	58965153	58965153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggccctgtaccgccacGtgatgctggaaaacttcaca	11	7	11	12	2	1	2	1	1	0	1	1	3	1	3	3	2	3	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58965153G>A	ENST00000336614.4	+	2	192	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	ZNF324B_ENST00000545523.1_Missense_Mutation_p.V29M|ZNF324B_ENST00000594214.1_Missense_Mutation_p.V29M|ZNF324B_ENST00000391696.1_5'UTR	NM_207395.2	NP_997278.2	Q6AW86	Z324B_HUMAN	zinc finger protein 324B	29	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		GTACCGCCACGTGATGCTGGA	0.562													A	58965153	G	A	58965153	3	1	364	1	0	0	0	0	1	0	0	0	17946	1145	40	1	87	1	ZNF324B	19	58965153	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20116	58965153	163830	14054	37556											
ZNF324B	388569	broad.mit.edu	37	chr19	58967882	58967882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggggccaggtttccttcaggGacatcatcggaaggtgcgcc	7	8	15	11	2	2	0	2	0	0	0	4	2	3	2	3	6	1	1	3	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967882G>A	ENST00000391696.1	+	3	2473	c.1541G>A	c.(1540-1542)gGa>gAa	p.G514E	ZNF324B_ENST00000545523.1_Missense_Mutation_p.G524E|ZNF324B_ENST00000336614.4_Missense_Mutation_p.G524E			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTCCTTCAGGGACATCATCGG	0.632													A	58967882	G	A	58967882	3	1	364	1	0	0	0	0	1	0	0	0	17946	1174	41	2	1581	2	ZNF324B	19	58967882	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2729	58967882	161101	14055	37557											
ZNF324B	388569	broad.mit.edu	37	chr19	58967899	58967899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggacatcatcggaaggtgCgccggggagggaagccaagc	11	3	18	9	3	1	0	1	0	0	0	2	4	1	4	2	6	3	0	2	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58967899C>T	ENST00000391696.1	+	3	2490	c.1558C>T	c.(1558-1560)Cgc>Tgc	p.R520C	ZNF324B_ENST00000545523.1_Missense_Mutation_p.R530C|ZNF324B_ENST00000336614.4_Missense_Mutation_p.R530C			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	530					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCGGAAGGTGCGCCGGGGAGG	0.607													T	58967899	C	T	58967899	3	4	364	1	0	0	0	0	1	0	0	0	17946	768	27	1	1598	1	ZNF324B	19	58967899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17	58967899	161084	14056	37558											
ZNF324	25799	broad.mit.edu	37	chr19	58982620	58982620	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctcttcacgctggggAgaagtccttcgaatgcaggg	8	8	15	10	3	2	1	1	0	1	1	4	4	3	1	1	4	1	3	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58982620A>G	ENST00000536459.2	+	4	1470	c.761A>G	c.(760-762)gAg>gGg	p.E254G	ZNF324_ENST00000535298.1_Missense_Mutation_p.E31G|ZNF324_ENST00000196482.3_Missense_Mutation_p.E254G			O75467	Z324A_HUMAN	zinc finger protein 324	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CACGCTGGGGAGAAGTCCTTC	0.632													G	58982620	A	G	58982620	3	3	364	1	0	0	0	0	1	0	0	0	17945	304	11	3	771	3	ZNF324	19	58982620	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14721	58982620	146363	14057	37559											
ZNF324	25799	broad.mit.edu	37	chr19	58983118	58983118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcaccagcgcgtgcacaCaggcgagaagcccttcgcct	10	5	11	15	4	0	1	0	0	0	1	1	2	0	1	3	1	4	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983118C>T	ENST00000536459.2	+	4	1968	c.1259C>T	c.(1258-1260)aCa>aTa	p.T420I	ZNF324_ENST00000535298.1_Missense_Mutation_p.T197I|ZNF324_ENST00000196482.3_Missense_Mutation_p.T420I			O75467	Z324A_HUMAN	zinc finger protein 324	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCGTGCACACAGGCGAGAAG	0.672													T	58983118	C	T	58983118	3	4	364	1	0	0	0	0	1	0	0	0	17945	478	17	2	1269	2	ZNF324	19	58983118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	498	58983118	145865	14058	37560											
ZNF324	25799	broad.mit.edu	37	chr19	58983150	58983150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgcctgcccacagtgcGgccgcgcctttagccacagc	5	7	10	19	4	0	0	0	0	0	0	1	0	0	0	6	1	4	0	6	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:58983150G>A	ENST00000536459.2	+	4	2000	c.1291G>A	c.(1291-1293)Ggc>Agc	p.G431S	ZNF324_ENST00000535298.1_Missense_Mutation_p.G208S|ZNF324_ENST00000196482.3_Missense_Mutation_p.G431S			O75467	Z324A_HUMAN	zinc finger protein 324	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CCCACAGTGCGGCCGCGCCTT	0.677													A	58983150	G	A	58983150	3	1	364	1	0	0	0	0	1	0	0	0	17945	1116	39	1	1301	1	ZNF324	19	58983150	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32	58983150	145833	14059	37561											
SLC27A5	10998	broad.mit.edu	37	chr19	59009889	59009889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggccaggtgatcagagcCtccaggttccctcacacaca	9	8	10	14	0	2	2	2	1	0	1	4	2	4	2	4	3	1	2	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009889C>A	ENST00000263093.2	-	10	2175	c.2066G>T	c.(2065-2067)aGg>aTg	p.R689M	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_Missense_Mutation_p.R94M|SLC27A5_ENST00000601355.1_Missense_Mutation_p.R605M	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	689					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		TGATCAGAGCCTCCAGGTTCC	0.607													A	59009889	C	A	59009889	3	1	364	1	0	0	0	0	1	0	0	0	14623	681	24	4	10	4	SLC27A5	19	59009889	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26739	59009889	119094	14060	37562											
SLC27A5	10998	broad.mit.edu	37	chr19	59009910	59009910	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggttccctcacacacaGcctggtacatttctgccgtc	7	11	7	16	1	2	0	1	0	1	0	5	0	4	0	4	2	3	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59009910G>T	ENST00000263093.2	-	10	2154	c.2045C>A	c.(2044-2046)gCt>gAt	p.A682D	SLC27A5_ENST00000599700.1_5'UTR|SLC27A5_ENST00000594786.1_Missense_Mutation_p.A87D|SLC27A5_ENST00000601355.1_Missense_Mutation_p.A598D	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	682					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		CTCACACACAGCCTGGTACAT	0.607													T	59009910	G	T	59009910	3	4	364	1	0	0	0	0	1	0	0	0	14623	971	34	4	31	4	SLC27A5	19	59009910	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21	59009910	119073	14061	37563											
SLC27A5	10998	broad.mit.edu	37	chr19	59010889	59010889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccgaggcggtcgcggaagTagaggaagccttcgcggtcc	7	5	16	13	6	0	1	0	0	0	1	3	4	1	3	4	5	1	1	4	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59010889T>C	ENST00000263093.2	-	7	1746	c.1637A>G	c.(1636-1638)tAc>tGc	p.Y546C	SLC27A5_ENST00000601355.1_Missense_Mutation_p.Y462C	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	546					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		GTCGCGGAAGTAGAGGAAGCC	0.662													C	59010889	T	C	59010889	3	2	364	1	0	0	0	0	1	0	0	0	14623	1638	57	3	451	3	SLC27A5	19	59010889	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	979	59010889	118094	14062	37564											
SLC27A5	10998	broad.mit.edu	37	chr19	59022198	59022198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagggcagcccccagaGcccccacccctggtgtaggg	7	4	12	18	0	0	1	0	0	0	1	1	1	1	1	7	3	2	2	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59022198G>A	ENST00000263093.2	-	2	897	c.788C>T	c.(787-789)gCt>gTt	p.A263V	SLC27A5_ENST00000601355.1_Missense_Mutation_p.A179V	NM_012254.2	NP_036386.1	Q9Y2P5	S27A5_HUMAN	solute carrier family 27 (fatty acid transporter), member 5	263					bile acid and bile salt transport|bile acid biosynthetic process|very long-chain fatty acid metabolic process	endoplasmic reticulum membrane|integral to membrane	ATP binding|cholate-CoA ligase activity|long-chain fatty acid-CoA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)|Lung(386;0.181)		AGCCCCCAGAGCCCCCACCCC	0.637													A	59022198	G	A	59022198	3	1	364	1	0	0	0	0	1	0	0	0	14623	971	34	2	1320	2	SLC27A5	19	59022198	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11309	59022198	106785	14063	37565											
ZBTB45	84878	broad.mit.edu	37	chr19	59028463	59028463	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagtgaggggtcagcatcaGgcccctcagccttggcaggt	8	7	14	12	0	3	1	3	1	0	0	3	1	3	1	3	5	2	2	3	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028463G>T	ENST00000594051.1	-	2	1058	c.578C>A	c.(577-579)cCt>cAt	p.P193H	ZBTB45_ENST00000600990.1_Missense_Mutation_p.P193H|ZBTB45_ENST00000354590.3_Missense_Mutation_p.P193H			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	193	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GTCAGCATCAGGCCCCTCAGC	0.682											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59028463	G	T	59028463	3	4	364	1	0	0	0	0	1	0	0	0	17647	1000	35	4	965	4	ZBTB45	19	59028463	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6265	59028463	100520	14064	37566											
ZBTB45	84878	broad.mit.edu	37	chr19	59028593	59028593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtggcgcaggcggtgacGcagctgcgcaggtgcgagtg	6	5	20	10	5	0	1	0	1	0	0	0	2	0	1	0	5	3	4	0	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028593G>A	ENST00000594051.1	-	2	928	c.448C>T	c.(448-450)Cgt>Tgt	p.R150C	ZBTB45_ENST00000600990.1_Missense_Mutation_p.R150C|ZBTB45_ENST00000354590.3_Missense_Mutation_p.R150C			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	150	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AGGCGGTGACGCAGCTGCGCA	0.741											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	59028593	G	A	59028593	3	1	364	1	0	0	0	0	1	0	0	0	17647	1087	38	1	1095	1	ZBTB45	19	59028593	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130	59028593	100390	14065	37567											
ZBTB45	84878	broad.mit.edu	37	chr19	59028726	59028726	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatgcgaagcactgacgcGgccgtgagcacctgcagggc	8	6	15	12	4	0	2	0	2	0	0	0	3	0	2	2	2	4	4	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59028726G>A	ENST00000594051.1	-	2	795	c.315C>T	c.(313-315)gcC>gcT	p.A105A	ZBTB45_ENST00000600990.1_Silent_p.A105A|ZBTB45_ENST00000354590.3_Silent_p.A105A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	105					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCACTGACGCGGCCGTGAGCA	0.662											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	59028726	G	A	59028726	2	1	364	1	0	0	0	0	0	0	0	1	17647	1103	39	1		1	ZBTB45	19	59028726	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133	59028726	100257	14066	37568											
TRIM28	10155	broad.mit.edu	37	chr19	59057241	59057241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcgggtgaagtacaccaaGgaccatactgtgcgctctac	11	7	11	12	2	1	1	0	1	1	0	1	2	1	2	2	2	5	2	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59057241G>A	ENST00000253024.5	+	3	853	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TRIM28_ENST00000341753.6_Intron	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	188	RBCC domain.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		AGTACACCAAGGACCATACTG	0.557													A	59057241	G	A	59057241	2	1	364	1	0	0	0	0	0	0	0	1	16603	991	35	2		2	TRIM28	19	59057241	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28515	59057241	71742	14067	37569											
TRIM28	10155	broad.mit.edu	37	chr19	59061149	59061149	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtgctccctgacctgaaGgaggaggatggcagcctcag	9	7	14	11	0	1	2	1	2	0	0	2	5	2	5	3	4	2	2	3	4	1	0	rs146551435		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061149G>T	ENST00000253024.5	+	14	2317	c.2028G>T	c.(2026-2028)aaG>aaT	p.K676N	TRIM28_ENST00000341753.6_Missense_Mutation_p.K594N	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	676					epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		CTGACCTGAAGGAGGAGGATG	0.597													T	59061149	G	T	59061149	3	4	364	1	0	0	0	0	1	0	0	0	16603	991	35	4	2082	4	TRIM28	19	59061149	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3908	59061149	67834	14068	37570											
TRIM28	10155	broad.mit.edu	37	chr19	59061781	59061781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccatcatcggcctgcagcGcttcttcgagacgcgcatga	7	9	11	14	5	2	2	1	1	1	1	5	3	3	2	2	1	2	3	2	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr19:59061781G>A	ENST00000253024.5	+	17	2658	c.2369G>A	c.(2368-2370)cGc>cAc	p.R790H	TRIM28_ENST00000341753.6_Missense_Mutation_p.R708H	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28	790	Bromo.				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GGCCTGCAGCGCTTCTTCGAG	0.602													A	59061781	G	A	59061781	3	1	364	1	0	0	0	0	1	0	0	0	16603	1087	38	1	2435	1	TRIM28	19	59061781	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	632	59061781	67202	14069	37571											
DEFB126	81623	broad.mit.edu	37	chr20	126110	126110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaatttgcaagaagaagtGcaaacctgaagagatgcatg	16	8	12	5	0	0	4	0	1	0	3	0	6	0	5	1	1	4	3	1	1	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:126110G>A	ENST00000382398.3	+	2	373	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	DEFB126_ENST00000542572.1_3'UTR	NM_030931.3	NP_112193.1	Q9BYW3	DB126_HUMAN	defensin, beta 126	38					defense response to bacterium	extracellular region				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)	4		all_cancers(10;7.65e-05)|Lung NSC(37;0.0417)|all_epithelial(17;0.0676)|all_lung(30;0.0713)|Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.122)			AAGAAGAAGTGCAAACCTGAA	0.383													A	126110	G	A	126110	3	1	364	1	0	0	0	0	1	0	0	0	4450	1319	46	2	119	2	DEFB126	20	126110	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		126110	62899410	14070	37572											
DEFB132	400830	broad.mit.edu	37	chr20	238458	238458	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcttggcagccctcggattCctgacccaggtgatcccagg	6	9	12	14	1	1	2	0	2	1	0	4	3	3	3	4	4	1	1	4	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:238458C>A	ENST00000382376.3	+	1	82	c.39C>A	c.(37-39)ttC>ttA	p.F13L		NM_207469.2	NP_997352.1	Q7Z7B7	DB132_HUMAN	defensin, beta 132	13					defense response to bacterium	extracellular region				breast(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	4						CCCTCGGATTCCTGACCCAGG	0.522													A	238458	C	A	238458	3	1	364	1	0	0	0	0	1	0	0	0	4456	854	30	4	41	4	DEFB132	20	238458	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112348	238458	62787062	14071	37573											
C20orf96	140680	broad.mit.edu	37	chr20	257686	257686	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcaactggctactcaccGccaccacagaactcagaatt	14	6	6	15	1	2	2	2	0	0	2	2	2	2	2	3	1	4	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:257686G>A	ENST00000360321.2	-	8	962	c.824C>T	c.(823-825)gCg>gTg	p.A275V	C20orf96_ENST00000382369.5_Splice_Site_p.A240V|C20orf96_ENST00000400269.3_Splice_Site_p.A217V	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	275										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			GCTACTCACCGCCACCACAGA	0.572													A	257686	G	A	257686	5	1	364	1	0	0	0	0	0	0	1	0	2143	1101	38	1	283	1	C20orf96	20	257686	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19228	257686	62767834	14072	37574											
C20orf96	140680	broad.mit.edu	37	chr20	270254	270254	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgaaggctgttggcttGttggactggaggcagagtag	8	12	17	4	0	0	2	0	1	0	1	0	4	0	4	0	5	0	7	0	5	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:270254G>A	ENST00000360321.2	-	3	271	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	C20orf96_ENST00000382369.5_Intron|C20orf96_ENST00000400269.3_Intron	NM_080571.1|NM_153269.2	NP_542138.1|NP_695001.2	Q9NUD7	CT096_HUMAN	chromosome 20 open reading frame 96	45										endometrium(3)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12		all_cancers(10;0.00959)|Lung NSC(37;0.227)	OV - Ovarian serous cystadenocarcinoma(29;0.149)			CTGTTGGCTTGTTGGACTGGA	0.502													A	270254	G	A	270254	4	1	364	1	0	0	0	0	0	1	0	0	2143	1386	48	2	994	2	C20orf96	20	270254	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12568	270254	62755266	14073	37575											
NRSN2	80023	broad.mit.edu	37	chr20	334193	334193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcacccattttccgcaatGccagtggccagtcatggttc	7	12	9	13	1	2	0	2	0	0	0	4	0	3	0	4	2	1	2	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:334193G>A	ENST00000382291.3	+	4	769	c.529G>A	c.(529-531)Gcc>Acc	p.A177T	NRSN2_ENST00000608736.1_Intron|NRSN2_ENST00000382285.2_Missense_Mutation_p.A177T|NRSN2_ENST00000492242.1_3'UTR	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	177						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TTTCCGCAATGCCAGTGGCCA	0.617													A	334193	G	A	334193	3	1	364	1	0	0	0	0	1	0	0	0	10739	1319	46	2	535	2	NRSN2	20	334193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63939	334193	62691327	14074	37576											
CSNK2A1	1457	broad.mit.edu	37	chr20	469369	469369	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaattcaatgttgtatttGtcaatatagtcatataaatc	14	18	4	5	0	4	0	3	0	1	0	5	0	4	0	0	0	0	2	0	0	9	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:469369G>A	ENST00000217244.3	-	11	1152	c.777C>T	c.(775-777)gaC>gaT	p.D259D	CSNK2A1_ENST00000349736.5_Silent_p.D259D|CSNK2A1_ENST00000400227.3_Silent_p.D259D|CSNK2A1_ENST00000400217.2_Silent_p.D123D	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	259	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TGTTGTATTTGTCAATATAGT	0.348													A	469369	G	A	469369	2	1	364	1	0	0	0	0	0	0	0	1	3990	1368	48	2		2	CSNK2A1	20	469369	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135176	469369	62556151	14075	37577											
SCRT2	85508	broad.mit.edu	37	chr20	644558	644558	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgagcgcatgtgaccctgCagcagccagggccgcgagaa	9	4	15	13	4	0	2	0	1	0	1	0	4	0	2	3	1	5	3	3	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:644558C>T	ENST00000246104.6	-	2	1258	c.681G>A	c.(679-681)ctG>ctA	p.L227L	RP5-850E9.3_ENST00000488788.2_Intron	NM_033129.3	NP_149120.1	Q9NQ03	SCRT2_HUMAN	scratch family zinc finger 2	227					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|liver(1)|ovary(1)	3						TGTGACCCTGCAGCAGCCAGG	0.692													T	644558	C	T	644558	2	4	364	1	0	0	0	0	0	0	0	1	14035	697	25	2		2	SCRT2	20	644558	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175189	644558	62380962	14076	37578											
ANGPT4	51378	broad.mit.edu	37	chr20	868969	868969	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgccacacccacctgttttgGccctgaagctgctggagctt	6	11	10	14	0	0	1	0	1	0	0	0	2	0	2	4	2	4	4	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:868969G>A	ENST00000381922.3	-	3	681	c.579C>T	c.(577-579)ggC>ggT	p.G193G	ANGPT4_ENST00000546022.1_Silent_p.G193G	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	193					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ACCTGTTTTGGCCCTGAAGCT	0.587													A	868969	G	A	868969	2	1	364	1	0	0	0	0	0	0	0	1	612	1190	42	2		2	ANGPT4	20	868969	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	224411	868969	62156551	14077	37579											
ANGPT4	51378	broad.mit.edu	37	chr20	896548	896548	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaacctcccatgccccgtaCcttcttcagccactgcgtgt	7	10	6	18	2	2	0	1	0	1	0	3	0	3	0	6	0	5	1	6	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896548C>T	ENST00000381922.3	-	1	412		c.e1+1		ANGPT4_ENST00000546022.1_Splice_Site	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4						anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						ATGCCCCGTACCTTCTTCAGC	0.597													T	896548	C	T	896548	5	4	364	1	0	0	0	0	0	0	1	0	612	521	18	2	1237	2	ANGPT4	20	896548	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27579	896548	62128972	14078	37580											
ANGPT4	51378	broad.mit.edu	37	chr20	896851	896851	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatggctagctgggAgagcatctgaagatgtgtca	10	9	14	8	0	2	3	1	1	1	2	2	4	2	3	0	2	4	5	0	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:896851A>T	ENST00000381922.3	-	1	109	c.7T>A	c.(7-9)Tcc>Acc	p.S3T	ANGPT4_ENST00000546022.1_Missense_Mutation_p.S3T	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	3					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCTAGCTGGGAGAGCATCTGA	0.607													T	896851	A	T	896851	3	4	364	1	0	0	0	0	1	0	0	0	612	304	11	5	1540	5	ANGPT4	20	896851	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	303	896851	62128669	14079	37581											
SIRPB1	10326	broad.mit.edu	37	chr20	1559045	1559045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgtcgtcagggctccctttCcggaacttcacacagtagta	9	10	9	13	3	2	0	2	0	0	0	5	1	4	1	2	2	1	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:1559045C>A	ENST00000381605.4	-	2	436	c.372G>T	c.(370-372)cgG>cgT	p.R124R	RP4-576H24.4_ENST00000564763.1_Silent_p.R124R|SIRPB1_ENST00000262929.5_Silent_p.R123R|SIRPB1_ENST00000381603.3_Silent_p.R124R	NM_006065.3	NP_006056.2	O00241	SIRB1_HUMAN	signal-regulatory protein beta 1	124	Ig-like V-type.				cell junction assembly|cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding			central_nervous_system(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	31						GGCTCCCTTTCCGGAACTTCA	0.547													A	1559045	C	A	1559045	2	1	364	1	0	0	0	0	0	0	0	1	14427	842	30	4		4	SIRPB1	20	1559045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	662194	1559045	61466475	14080	37582											
TGM6	343641	broad.mit.edu	37	chr20	2411126	2411126	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attacaatatcttactctaaGtataaagaagacctgacaga	18	11	5	7	0	2	4	0	1	2	3	2	4	2	4	1	0	2	1	1	0	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2411126G>A	ENST00000202625.2	+	11	1774	c.1713G>A	c.(1711-1713)aaG>aaA	p.K571K	TGM6_ENST00000381423.1_Silent_p.K571K	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	571					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CTTACTCTAAGTATAAAGAAG	0.458													A	2411126	G	A	2411126	2	1	364	1	0	0	0	0	0	0	0	1	15934	1020	36	2		2	TGM6	20	2411126	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	852081	2411126	60614394	14081	37583											
TGM6	343641	broad.mit.edu	37	chr20	2413265	2413265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacatcaagggctttgtgatCgtccatgtggccactgccaa	9	10	11	11	1	1	1	1	1	0	0	3	2	2	1	3	2	1	1	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2413265C>T	ENST00000202625.2	+	13	2158	c.2097C>T	c.(2095-2097)atC>atT	p.I699I	TGM6_ENST00000381423.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	699					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	GCTTTGTGATCGTCCATGTGG	0.567													T	2413265	C	T	2413265	2	4	364	1	0	0	0	0	0	0	0	1	15934	874	31	1		1	TGM6	20	2413265	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2139	2413265	60612255	14082	37584											
ZNF343	79175	broad.mit.edu	37	chr20	2474511	2474511	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcttcccagtattgatCtcccagtgctgaaggataag	11	12	8	10	0	2	2	0	2	2	0	5	3	3	3	2	1	1	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2474511C>A	ENST00000278772.4	-	3	518	c.31G>T	c.(31-33)Gat>Tat	p.D11Y	ZNF343_ENST00000358413.2_Missense_Mutation_p.D11Y|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.D11Y|ZNF343_ENST00000381253.1_Missense_Mutation_p.D11Y	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CAGTATTGATCTCCCAGTGCT	0.433													A	2474511	C	A	2474511	3	1	364	1	0	0	0	0	1	0	0	0	17959	913	32	4	1784	4	ZNF343	20	2474511	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61246	2474511	60551009	14083	37585											
TMC2	117532	broad.mit.edu	37	chr20	2577918	2577918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagagacagctgataacaaaTatgcatccatcaccaccagc	16	6	6	13	0	1	2	1	1	0	1	2	3	2	2	3	0	4	2	3	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2577918T>C	ENST00000358864.1	+	10	1213	c.1198T>C	c.(1198-1200)Tat>Cat	p.Y400H		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	400						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TGATAACAAATATGCATCCAT	0.512													C	2577918	T	C	2577918	3	2	364	1	0	0	0	0	1	0	0	0	16085	1406	49	3	1236	3	TMC2	20	2577918	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103407	2577918	60447602	14084	37586											
TMC2	117532	broad.mit.edu	37	chr20	2592911	2592911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaactcttctggttggaaCgagagtgtcccccgaccacc	9	9	9	14	2	2	1	0	0	2	1	3	4	3	2	4	2	3	1	4	2	3	3	rs144876435	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592911C>T	ENST00000358864.1	+	13	1683	c.1668C>T	c.(1666-1668)aaC>aaT	p.N556N	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	556						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTGGTTGGAACGAGAGTGTCC	0.498													T	2592911	C	T	2592911	2	4	364	1	0	0	0	0	0	0	0	1	16085	535	19	1		1	TMC2	20	2592911	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14993	2592911	60432609	14085	37587											
TMC2	117532	broad.mit.edu	37	chr20	2592935	2592935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtcccccgaccacccctGcaccctgcagatgtgccccg	6	6	9	20	2	0	1	0	0	0	1	1	2	1	1	8	0	3	2	8	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2592935G>A	ENST00000358864.1	+	13	1707	c.1692G>A	c.(1690-1692)ctG>ctA	p.L564L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	564						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GACCACCCCTGCACCCTGCAG	0.493													A	2592935	G	A	2592935	2	1	364	1	0	0	0	0	0	0	0	1	16085	1306	46	2		2	TMC2	20	2592935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	2592935	60432585	14086	37588											
TMC2	117532	broad.mit.edu	37	chr20	2621951	2621951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccccatctcagactcatcCgtggaggtcagcctctggaa	8	8	10	15	2	4	1	3	0	2	1	6	3	5	3	4	3	1	0	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2621951C>T	ENST00000358864.1	+	20	2690	c.2675C>T	c.(2674-2676)cCg>cTg	p.P892L		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	892						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CAGACTCATCCGTGGAGGTCA	0.602													T	2621951	C	T	2621951	3	4	364	1	0	0	0	0	1	0	0	0	16085	652	23	1	2753	1	TMC2	20	2621951	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29016	2621951	60403569	14087	37589											
NOP56	10528	broad.mit.edu	37	chr20	2634034	2634034	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatgccaacgccgtgtCtgaaggtaagtcggccaccg	11	6	13	11	4	1	1	0	1	1	0	2	2	1	2	4	3	2	1	4	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2634034C>A	ENST00000329276.5	+	3	719	c.203C>A	c.(202-204)tCt>tAt	p.S68Y		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	68					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						AACGCCGTGTCTGAAGGTAAG	0.542													A	2634034	C	A	2634034	3	1	364	1	0	0	0	0	1	0	0	0	10615	913	32	4	213	4	NOP56	20	2634034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12083	2634034	60391486	14088	37590											
NOP56	10528	broad.mit.edu	37	chr20	2635158	2635158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggatcccaagattggtgccGcaatacaggaggagttaggg	11	7	16	7	1	0	1	0	0	0	1	1	4	1	4	2	5	2	2	2	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2635158G>A	ENST00000329276.5	+	4	823	c.307G>A	c.(307-309)Gca>Aca	p.A103T		NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	103					rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding	p.A103T(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						GATTGGTGCCGCAATACAGGA	0.517													A	2635158	G	A	2635158	3	1	364	1	0	0	0	0	1	0	0	0	10615	1087	38	1	321	1	NOP56	20	2635158	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1124	2635158	60390362	14089	37591											
NOP56	10528	broad.mit.edu	37	chr20	2637823	2637823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgcacttgccctcGcgtcttcagaaaacagcagt	8	9	11	13	2	2	1	1	0	1	1	3	1	2	1	1	2	4	4	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2637823G>A	ENST00000329276.5	+	11	1894	c.1378G>A	c.(1378-1380)Gcg>Acg	p.A460T	NOP56_ENST00000492135.1_3'UTR	NM_006392.3	NP_006383.2	O00567	NOP56_HUMAN	NOP56 ribonucleoprotein	460	Lys-rich.				rRNA processing	box C/D snoRNP complex|pre-snoRNP complex	protein binding|snoRNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						ACTTGCCCTCGCGTCTTCAGA	0.517													A	2637823	G	A	2637823	3	1	364	1	0	0	0	0	1	0	0	0	10615	1087	38	1	1420	1	NOP56	20	2637823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2665	2637823	60387697	14090	37592											
CPXM1	56265	broad.mit.edu	37	chr20	2774977	2774977	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaaggggccctcttcaaaGgtgacccgacagttccgtgt	8	8	14	11	2	2	1	1	1	1	0	3	3	3	2	3	4	0	1	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2774977G>T	ENST00000380605.2	-	14	2128	c.2064C>A	c.(2062-2064)acC>acA	p.T688T		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	688					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CCTCTTCAAAGGTGACCCGAC	0.632													T	2774977	G	T	2774977	2	4	364	1	0	0	0	0	0	0	0	1	3868	987	35	4		4	CPXM1	20	2774977	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	137154	2774977	60250543	14091	37593											
CPXM1	56265	broad.mit.edu	37	chr20	2775939	2775939	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacctgctccaggtaggtgAggagggcgtctttgttgttc	5	12	15	9	2	1	1	0	1	1	0	3	3	2	2	2	4	1	4	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2775939A>C	ENST00000380605.2	-	12	1908	c.1844T>G	c.(1843-1845)cTc>cGc	p.L615R		NM_001184699.1|NM_019609.4	NP_001171628.1|NP_062555.1	Q96SM3	CPXM1_HUMAN	carboxypeptidase X (M14 family), member 1	615					cell adhesion|proteolysis		metallocarboxypeptidase activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(8)|lung(17)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						CAGGTAGGTGAGGAGGGCGTC	0.567													C	2775939	A	C	2775939	3	2	364	1	0	0	0	0	1	0	0	0	3868	304	11	5	372	5	CPXM1	20	2775939	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	962	2775939	60249581	14092	37594											
VPS16	64601	broad.mit.edu	37	chr20	2843290	2843290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccagctgacccaggcCgtgcagcagtgcattgaggc	7	6	15	13	1	0	2	0	2	0	0	0	2	0	2	3	3	4	4	3	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2843290C>T	ENST00000380445.3	+	12	1209	c.1137C>T	c.(1135-1137)gcC>gcT	p.A379A	VPS16_ENST00000380469.3_Intron|VPS16_ENST00000481812.2_3'UTR|VPS16_ENST00000380443.3_Silent_p.A33A	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	379					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						TGACCCAGGCCGTGCAGCAGT	0.647													T	2843290	C	T	2843290	2	4	364	1	0	0	0	0	0	0	0	1	17295	639	23	1		1	VPS16	20	2843290	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67351	2843290	60182230	14093	37595											
VPS16	64601	broad.mit.edu	37	chr20	2845660	2845660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagctctgcagacagccGccgatgccttctacaaggcc	9	7	10	15	2	2	1	0	0	2	1	2	2	2	1	4	1	6	3	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2845660G>A	ENST00000380445.3	+	20	2035	c.1963G>A	c.(1963-1965)Gcc>Acc	p.A655T	PTPRA_ENST00000380393.3_5'UTR|VPS16_ENST00000380469.3_Missense_Mutation_p.A511T|VPS16_ENST00000380443.3_Missense_Mutation_p.A341T	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	655					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						GCAGACAGCCGCCGATGCCTT	0.572													A	2845660	G	A	2845660	3	1	364	1	0	0	0	0	1	0	0	0	17295	1087	38	1	2041	1	VPS16	20	2845660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2370	2845660	60179860	14094	37596											
PTPRA	5786	broad.mit.edu	37	chr20	2945784	2945784	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagttcacggatgccagAacagaaccctgggaggggaa	14	4	13	10	1	1	2	1	0	0	2	1	5	1	5	3	4	4	1	3	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2945784A>C	ENST00000216877.6	+	5	751	c.351A>C	c.(349-351)agA>agC	p.R117S	PTPRA_ENST00000380393.3_Missense_Mutation_p.R117S|PTPRA_ENST00000425918.2_Missense_Mutation_p.R128S|PTPRA_ENST00000356147.3_Missense_Mutation_p.R117S|PTPRA_ENST00000399903.2_Missense_Mutation_p.R117S|PTPRA_ENST00000318266.5_Missense_Mutation_p.R117S|PTPRA_ENST00000358719.4_5'UTR	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	117					axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CGGATGCCAGAACAGAACCCT	0.468													C	2945784	A	C	2945784	3	2	364	1	0	0	0	0	1	0	0	0	12883	243	9	5	357	5	PTPRA	20	2945784	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	100124	2945784	60079736	14095	37597											
PTPRA	5786	broad.mit.edu	37	chr20	2998533	2998533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acacagccaccatcgtcatgGttaccaacctgaaggagaga	14	6	9	12	1	1	2	1	1	0	1	2	4	1	3	4	2	3	1	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:2998533G>A	ENST00000216877.6	+	12	1388	c.988G>A	c.(988-990)Gtt>Att	p.V330I	PTPRA_ENST00000380393.3_Missense_Mutation_p.V339I|PTPRA_ENST00000425918.2_Missense_Mutation_p.V350I|PTPRA_ENST00000356147.3_Missense_Mutation_p.V330I|PTPRA_ENST00000399903.2_Missense_Mutation_p.V339I|PTPRA_ENST00000318266.5_Missense_Mutation_p.V330I|PTPRA_ENST00000358719.4_Missense_Mutation_p.V195I	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	339	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CATCGTCATGGTTACCAACCT	0.443													A	2998533	G	A	2998533	3	1	364	1	0	0	0	0	1	0	0	0	12883	1261	44	2	1053	2	PTPRA	20	2998533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52749	2998533	60026987	14096	37598											
PTPRA	5786	broad.mit.edu	37	chr20	3002788	3002788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttggggtgccttttacccCgatcggcatgctcaagttcc	5	13	10	13	2	1	0	1	0	0	0	3	1	2	0	4	3	3	3	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002788C>T	ENST00000216877.6	+	14	1623	c.1223C>T	c.(1222-1224)cCg>cTg	p.P408L	PTPRA_ENST00000380393.3_Missense_Mutation_p.P417L|PTPRA_ENST00000425918.2_Missense_Mutation_p.P428L|PTPRA_ENST00000356147.3_Missense_Mutation_p.P408L|PTPRA_ENST00000399903.2_Missense_Mutation_p.P417L|PTPRA_ENST00000318266.5_Missense_Mutation_p.P408L|PTPRA_ENST00000358719.4_Missense_Mutation_p.P273L	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	417	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CCTTTTACCCCGATCGGCATG	0.562													T	3002788	C	T	3002788	3	4	364	1	0	0	0	0	1	0	0	0	12883	652	23	1	1296	1	PTPRA	20	3002788	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4255	3002788	60022732	14097	37599											
PTPRA	5786	broad.mit.edu	37	chr20	3002825	3002825	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcaagaaggtgaaggcCtgtaaccctcagtatgcagg	11	9	11	10	0	2	2	2	1	0	1	3	2	3	2	3	3	2	3	3	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3002825C>A	ENST00000216877.6	+	14	1660	c.1260C>A	c.(1258-1260)gcC>gcA	p.A420A	PTPRA_ENST00000380393.3_Silent_p.A429A|PTPRA_ENST00000425918.2_Silent_p.A440A|PTPRA_ENST00000356147.3_Silent_p.A420A|PTPRA_ENST00000399903.2_Silent_p.A429A|PTPRA_ENST00000318266.5_Silent_p.A420A|PTPRA_ENST00000358719.4_Silent_p.A285A	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	429	Tyrosine-protein phosphatase 1.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGGTGAAGGCCTGTAACCCTC	0.587													A	3002825	C	A	3002825	2	1	364	1	0	0	0	0	0	0	0	1	12883	668	24	4		4	PTPRA	20	3002825	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37	3002825	60022695	14098	37600											
PTPRA	5786	broad.mit.edu	37	chr20	3018748	3018748	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgcaggagtatattgAtgcattctcagattatgcca	10	13	12	6	0	1	2	1	1	1	1	2	3	1	3	1	3	3	3	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3018748A>G	ENST00000216877.6	+	23	2751	c.2351A>G	c.(2350-2352)gAt>gGt	p.D784G	PTPRA_ENST00000380393.3_Missense_Mutation_p.D793G|PTPRA_ENST00000425918.2_Missense_Mutation_p.D804G|PTPRA_ENST00000356147.3_Missense_Mutation_p.D784G|PTPRA_ENST00000399903.2_Missense_Mutation_p.D793G|PTPRA_ENST00000318266.5_Missense_Mutation_p.D784G|PTPRA_ENST00000358719.4_Missense_Mutation_p.D649G	NM_080840.2	NP_543030.1	P18433	PTPRA_HUMAN	protein tyrosine phosphatase, receptor type, A	793	Tyrosine-protein phosphatase 2.				axon guidance|protein phosphorylation	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAGTATATTGATGCATTCTCA	0.413													G	3018748	A	G	3018748	3	3	364	1	0	0	0	0	1	0	0	0	12883	333	12	3	2460	3	PTPRA	20	3018748	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15923	3018748	60006772	14099	37601											
MRPS26	64949	broad.mit.edu	37	chr20	3028480	3028480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actgggccatcaccagagagGggctggtggtcaggccacaa	10	5	15	11	0	2	1	2	0	0	1	2	2	2	1	3	6	0	1	3	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3028480G>A	ENST00000380325.3	+	4	707	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	195					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						CACCAGAGAGGGGCTGGTGGT	0.587													A	3028480	G	A	3028480	3	1	364	1	0	0	0	0	1	0	0	0	9913	1232	43	2	597	2	MRPS26	20	3028480	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9732	3028480	59997040	14100	37602											
FASTKD5	60493	broad.mit.edu	37	chr20	3129661	3129661	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggactgcaccaaaggcagaaGgactgcaaaatgctcggtat	14	6	12	9	1	0	1	0	0	0	1	1	3	0	3	1	4	3	5	1	4	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3129661G>T	ENST00000380266.3	-	2	377	c.56C>A	c.(55-57)cCt>cAt	p.P19H	UBOX5-AS1_ENST00000446537.1_RNA|UBOX5_ENST00000348031.2_Intron|UBOX5_ENST00000217173.2_Intron	NM_021826.4	NP_068598.1	Q7L8L6	FAKD5_HUMAN	FAST kinase domains 5	19					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(2)|endometrium(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(2)	19						AAAGGCAGAAGGACTGCAAAA	0.478													T	3129661	G	T	3129661	3	4	364	1	0	0	0	0	1	0	0	0	5737	1000	35	4	2242	4	FASTKD5	20	3129661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101181	3129661	59895859	14101	37603											
DDRGK1	65992	broad.mit.edu	37	chr20	3171368	3171368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgctggcttgggcaagctcGgcgatggacacccggccccg	5	7	15	14	4	0	0	0	0	0	0	1	2	0	1	3	5	2	4	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3171368G>A	ENST00000354488.3	-	9	933	c.876C>T	c.(874-876)gcC>gcT	p.A292A	DDRGK1_ENST00000496781.1_5'UTR	NM_023935.1	NP_076424.1	Q96HY6	DDRGK_HUMAN	DDRGK domain containing 1	292						endoplasmic reticulum	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7						GGGCAAGCTCGGCGATGGACA	0.642													A	3171368	G	A	3171368	2	1	364	1	0	0	0	0	0	0	0	1	4372	1103	39	1		1	DDRGK1	20	3171368	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41707	3171368	59854152	14102	37604											
SLC4A11	83959	broad.mit.edu	37	chr20	3209033	3209033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagtagtggatcttcctCtggggcaccctccggatgta	7	11	13	10	1	2	1	0	1	2	0	4	3	4	3	3	4	0	3	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209033C>A	ENST00000380059.3	-	19	2660	c.2559G>T	c.(2557-2559)caG>caT	p.Q853H	SLC4A11_ENST00000539553.2_Missense_Mutation_p.Q810H|SLC4A11_ENST00000380056.3_Missense_Mutation_p.Q826H	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	826	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GGATCTTCCTCTGGGGCACCC	0.642													A	3209033	C	A	3209033	3	1	364	1	0	0	0	0	1	0	0	0	14746	912	32	4	205	4	SLC4A11	20	3209033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37665	3209033	59816487	14103	37605											
SLC4A11	83959	broad.mit.edu	37	chr20	3209230	3209230	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaggtgagcgcgatgtagagGaagaggccatagagcacggg	12	4	19	6	3	0	4	0	1	0	3	0	7	0	5	1	4	2	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3209230G>A	ENST00000380059.3	-	18	2546	c.2445C>T	c.(2443-2445)ttC>ttT	p.F815F	SLC4A11_ENST00000539553.2_Silent_p.F772F|SLC4A11_ENST00000380056.3_Silent_p.F788F	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	788	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CGATGTAGAGGAAGAGGCCAT	0.677													A	3209230	G	A	3209230	2	1	364	1	0	0	0	0	0	0	0	1	14746	1165	41	2		2	SLC4A11	20	3209230	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	197	3209230	59816290	14104	37606											
SLC4A11	83959	broad.mit.edu	37	chr20	3212183	3212183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcgccacctccatcgcagtCttagtgcttttctaggggtg	5	12	11	13	3	2	0	0	0	2	0	4	0	3	0	3	2	1	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3212183C>T	ENST00000380059.3	-	8	971	c.870G>A	c.(868-870)aaG>aaA	p.K290K	SLC4A11_ENST00000539553.2_Silent_p.K247K|SLC4A11_ENST00000380056.3_Silent_p.K263K	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	263					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATCGCAGTCTTAGTGCTTT	0.602													T	3212183	C	T	3212183	2	4	364	1	0	0	0	0	0	0	0	1	14746	912	32	2		2	SLC4A11	20	3212183	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2953	3212183	59813337	14105	37607											
SLC4A11	83959	broad.mit.edu	37	chr20	3214251	3214251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaggcggctgatgcacAcgtgccgcttctgtagggcc	7	7	14	13	3	1	1	0	1	1	0	1	2	1	1	3	3	3	4	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3214251A>G	ENST00000380059.3	-	7	868	c.767T>C	c.(766-768)gTg>gCg	p.V256A	SLC4A11_ENST00000539553.2_Missense_Mutation_p.V213A|SLC4A11_ENST00000380056.3_Missense_Mutation_p.V229A	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	229					cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						GCTGATGCACACGTGCCGCTT	0.642													G	3214251	A	G	3214251	3	3	364	1	0	0	0	0	1	0	0	0	14746	159	6	3	2045	3	SLC4A11	20	3214251	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2068	3214251	59811269	14106	37608											
ADAM33	80332	broad.mit.edu	37	chr20	3652086	3652086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtggctgtggcaggcagTcaggcagcgctgaagctcct	6	7	15	13	2	1	1	1	1	0	0	2	1	2	1	2	4	2	6	2	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652086T>C	ENST00000356518.2	-	17	2204	c.1963A>G	c.(1963-1965)Act>Gct	p.T655A	ADAM33_ENST00000466620.1_Intron|ADAM33_ENST00000350009.2_Intron|ADAM33_ENST00000379861.4_Missense_Mutation_p.T655A	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	655	EGF-like.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGGCAGGCAGTCAGGCAGCGC	0.632													C	3652086	T	C	3652086	3	2	364	1	0	0	0	0	1	0	0	0	250	1667	58	3	502	3	ADAM33	20	3652086	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	437835	3652086	59373434	14107	37609											
ADAM33	80332	broad.mit.edu	37	chr20	3652947	3652947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcacagtcacccatggcCtggcggcacagcgctccagc	8	5	12	16	2	2	0	2	0	0	0	3	0	3	0	3	4	2	2	3	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3652947C>A	ENST00000356518.2	-	14	1672	c.1431G>T	c.(1429-1431)caG>caT	p.Q477H	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.Q477H|ADAM33_ENST00000379861.4_Missense_Mutation_p.Q477H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	477	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						CACCCATGGCCTGGCGGCACA	0.662													A	3652947	C	A	3652947	3	1	364	1	0	0	0	0	1	0	0	0	250	680	24	4	1046	4	ADAM33	20	3652947	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	861	3652947	59372573	14108	37610											
ADAM33	80332	broad.mit.edu	37	chr20	3653192	3653192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgccctcaccaggcagcGcacgcagcagtccccgtggg	7	4	12	18	3	1	0	1	0	0	0	2	0	2	0	5	2	3	4	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3653192G>A	ENST00000356518.2	-	13	1634	c.1393C>T	c.(1393-1395)Cgc>Tgc	p.R465C	ADAM33_ENST00000466620.1_5'UTR|ADAM33_ENST00000350009.2_Missense_Mutation_p.R465C|ADAM33_ENST00000379861.4_Missense_Mutation_p.R465C	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	465	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						ACCAGGCAGCGCACGCAGCAG	0.657													A	3653192	G	A	3653192	3	1	364	1	0	0	0	0	1	0	0	0	250	1087	38	1	1088	1	ADAM33	20	3653192	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	245	3653192	59372328	14109	37611											
ADAM33	80332	broad.mit.edu	37	chr20	3654742	3654742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggcgacttccaggagaCgctgtttggtgtggttcaag	7	12	15	7	2	1	1	1	0	0	1	2	3	2	1	1	4	0	4	1	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3654742C>T	ENST00000356518.2	-	8	948	c.707G>A	c.(706-708)cGt>cAt	p.R236H	ADAM33_ENST00000350009.2_Missense_Mutation_p.R236H|ADAM33_ENST00000379861.4_Missense_Mutation_p.R236H	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	236	Peptidase M12B.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TTCCAGGAGACGCTGTTTGGT	0.652													T	3654742	C	T	3654742	3	4	364	1	0	0	0	0	1	0	0	0	250	536	19	1	1794	1	ADAM33	20	3654742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1550	3654742	59370778	14110	37612											
ADAM33	80332	broad.mit.edu	37	chr20	3660180	3660180	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgccagggttgtccatccaGgacccagtgcggggtgactg	6	7	16	12	2	0	1	0	1	0	0	2	2	2	2	4	4	1	1	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3660180G>T	ENST00000356518.2	-	2	377	c.136C>A	c.(136-138)Ctg>Atg	p.L46M	ADAM33_ENST00000350009.2_Missense_Mutation_p.L46M|ADAM33_ENST00000379861.4_Missense_Mutation_p.L46M	NM_025220.2	NP_079496.1	Q9BZ11	ADA33_HUMAN	ADAM metallopeptidase domain 33	46					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|skin(3)	29						TGTCCATCCAGGACCCAGTGC	0.637													T	3660180	G	T	3660180	3	4	364	1	0	0	0	0	1	0	0	0	250	991	35	4	2389	4	ADAM33	20	3660180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5438	3660180	59365340	14111	37613											
SIGLEC1	6614	broad.mit.edu	37	chr20	3670648	3670648	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggtagaggcagagcccaGgacatttgaggcagaacaga	14	4	16	7	0	0	5	0	1	0	4	0	7	0	7	1	5	2	3	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3670648G>T	ENST00000344754.4	-	18	4854	c.4855C>A	c.(4855-4857)Ctg>Atg	p.L1619M	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.L1619M	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1619	Ig-like C2-type 16.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCAGAGCCCAGGACATTTGAG	0.602													T	3670648	G	T	3670648	3	4	364	1	0	0	0	0	1	0	0	0	14399	991	35	4	290	4	SIGLEC1	20	3670648	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10468	3670648	59354872	14112	37614											
SIGLEC1	6614	broad.mit.edu	37	chr20	3682141	3682141	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagcgtgggctgtgatcaCtgtccccggaggtggaggcc	6	8	17	10	2	1	2	1	2	0	0	2	4	2	4	3	5	1	1	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3682141C>A	ENST00000344754.4	-	6	1375	c.1376G>T	c.(1375-1377)aGt>aTt	p.S459I	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.S459I	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	459	Ig-like C2-type 4.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GCTGTGATCACTGTCCCCGGA	0.602													A	3682141	C	A	3682141	3	1	364	1	0	0	0	0	1	0	0	0	14399	565	20	4	3817	4	SIGLEC1	20	3682141	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11493	3682141	59343379	14113	37615											
SIGLEC1	6614	broad.mit.edu	37	chr20	3684577	3684577	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcctggggcaggtgcaGcacaccagtcttggtttgga	6	9	16	10	0	1	0	0	0	1	0	1	1	1	1	2	6	3	5	2	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3684577G>A	ENST00000344754.4	-	4	867	c.868C>T	c.(868-870)Ctg>Ttg	p.L290L	SIGLEC1_ENST00000202578.4_Silent_p.L290L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	290	Ig-like C2-type 2.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GGCAGGTGCAGCACACCAGTC	0.602													A	3684577	G	A	3684577	2	1	364	1	0	0	0	0	0	0	0	1	14399	962	34	2		2	SIGLEC1	20	3684577	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2436	3684577	59340943	14114	37616											
C20orf27	54976	broad.mit.edu	37	chr20	3734741	3734741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcgctgtgctctgagtcGtattccagctcggcgcccac	5	10	11	15	4	1	1	0	1	1	0	5	1	2	1	2	1	2	4	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3734741G>A	ENST00000379772.3	-	6	1299	c.489C>T	c.(487-489)taC>taT	p.Y163Y	C20orf27_ENST00000217195.8_Silent_p.Y188Y	NM_001258429.1	NP_001245358.1	Q9GZN8	CT027_HUMAN	chromosome 20 open reading frame 27	163										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	7						GCTCTGAGTCGTATTCCAGCT	0.672													A	3734741	G	A	3734741	2	1	364	1	0	0	0	0	0	0	0	1	2128	1140	40	1		1	C20orf27	20	3734741	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50164	3734741	59290779	14115	37617											
CDC25B	994	broad.mit.edu	37	chr20	3778368	3778368	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccgaatcctccctgtcGtctgaatcctccgaatcttc	7	12	6	16	3	2	1	0	1	2	0	9	3	7	1	5	0	0	1	5	0	3	1	rs147311787	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3778368G>A	ENST00000245960.5	+	2	997	c.300G>A	c.(298-300)tcG>tcA	p.S100S	CDC25B_ENST00000344256.6_Silent_p.S36S|CDC25B_ENST00000439880.2_Silent_p.S86S|CDC25B_ENST00000340833.4_Silent_p.S100S|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Silent_p.S36S	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	100					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						CCTCCCTGTCGTCTGAATCCT	0.627													A	3778368	G	A	3778368	2	1	364	1	0	0	0	0	0	0	0	1	3093	1132	40	1		1	CDC25B	20	3778368	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43627	3778368	59247152	14116	37618											
MAVS	57506	broad.mit.edu	37	chr20	3835383	3835383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgccctgcctcacagcaagaGaccaggtgagcaagggaagt	12	5	13	11	0	1	2	1	1	0	1	1	4	1	3	3	2	4	2	3	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3835383G>A	ENST00000428216.2	+	2	240	c.112G>A	c.(112-114)Gac>Aac	p.D38N	MAVS_ENST00000358134.6_Missense_Mutation_p.D38N|MAVS_ENST00000416600.2_5'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	38	CARD.|Required for interaction with NLRX1.				activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CACAGCAAGAGACCAGGTGAG	0.527													A	3835383	G	A	3835383	3	1	364	1	0	0	0	0	1	0	0	0	9413	942	33	2	114	2	MAVS	20	3835383	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57015	3835383	59190137	14117	37619											
MAVS	57506	broad.mit.edu	37	chr20	3845045	3845045	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcacctccttctcctcCtcatcccctggcttggcctc	3	12	6	20	0	2	0	1	0	1	0	7	0	5	0	7	3	0	2	7	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3845045C>A	ENST00000428216.2	+	6	896	c.768C>A	c.(766-768)tcC>tcA	p.S256S	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Silent_p.S115S	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	256					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						CCTTCTCCTCCTCATCCCCTG	0.632													A	3845045	C	A	3845045	2	1	364	1	0	0	0	0	0	0	0	1	9413	668	24	4		4	MAVS	20	3845045	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9662	3845045	59180475	14118	37620											
MAVS	57506	broad.mit.edu	37	chr20	3846354	3846354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcagctccaacacccGccggcgccactggaggcagc	8	2	11	20	3	0	0	0	0	0	0	1	1	1	1	6	3	4	3	6	3	1	0	rs143089997		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3846354G>A	ENST00000428216.2	+	7	1311	c.1183G>A	c.(1183-1185)Gcc>Acc	p.A395T	MAVS_ENST00000358134.6_3'UTR|MAVS_ENST00000416600.2_Missense_Mutation_p.A254T	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	395					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TCCAACACCCGCCGGCGCCAC	0.637													A	3846354	G	A	3846354	3	1	364	1	0	0	0	0	1	0	0	0	9413	1087	38	1	1205	1	MAVS	20	3846354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309	3846354	59179166	14119	37621											
PANK2	80025	broad.mit.edu	37	chr20	3888790	3888790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggacgcaaaggcaatctGcactttatacgctttcccac	10	11	8	12	2	1	0	0	0	1	0	2	1	2	1	1	2	2	4	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3888790G>A	ENST00000316562.4	+	2	852	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PANK2_ENST00000610179.1_Silent_p.L159L|PANK2_ENST00000497424.1_5'UTR	NM_153638.2	NP_705902.2	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	282			L -> V (in NBIA1).		cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding	p.L282L(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AAGGCAATCTGCACTTTATAC	0.498													A	3888790	G	A	3888790	2	1	364	1	0	0	0	0	0	0	0	1	11493	1306	46	2		2	PANK2	20	3888790	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42436	3888790	59136730	14120	37622											
RNF24	11237	broad.mit.edu	37	chr20	3925866	3925866	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actttctcttttaatataacCtgtaagacaaaaaagtatgt	16	15	4	6	0	1	1	0	0	1	1	2	1	1	1	1	0	1	2	1	0	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:3925866C>A	ENST00000336095.6	-	4	438		c.e4-1		RNF24_ENST00000358395.6_Splice_Site|RNF24_ENST00000545616.2_Splice_Site|RNF24_ENST00000432261.2_Splice_Site	NM_007219.3	NP_009150.1	Q9Y225	RNF24_HUMAN	ring finger protein 24							Golgi membrane|integral to membrane	zinc ion binding			large_intestine(1)|upper_aerodigestive_tract(1)	2						TTAATATAACCTGTAAGACAA	0.274													A	3925866	C	A	3925866	5	1	364	1	0	0	0	0	0	0	1	0	13575	695	24	4	272	4	RNF24	20	3925866	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37076	3925866	59099654	14121	37623											
SMOX	54498	broad.mit.edu	37	chr20	4163079	4163079	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtggtggtggagtgcgAggactgtgagctgatcccgg	5	9	20	7	3	0	2	0	2	0	0	2	5	1	4	1	6	2	1	1	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4163079A>G	ENST00000305958.4	+	5	1178	c.953A>G	c.(952-954)gAg>gGg	p.E318G	SMOX_ENST00000339123.6_Intron|SMOX_ENST00000379460.2_Missense_Mutation_p.E318G|SMOX_ENST00000278795.3_Intron|SMOX_ENST00000346595.2_Intron	NM_175839.2	NP_787033.1	Q9NWM0	SMOX_HUMAN	spermine oxidase	318					polyamine biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	polyamine oxidase activity			breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(7)|lung(5)|skin(2)|urinary_tract(1)	26					Spermine(DB00127)	GTGGAGTGCGAGGACTGTGAG	0.632													G	4163079	A	G	4163079	3	3	364	1	0	0	0	0	1	0	0	0	14897	304	11	3	967	3	SMOX	20	4163079	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	237213	4163079	58862441	14122	37624											
RASSF2	9770	broad.mit.edu	37	chr20	4776463	4776463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtctctcctcactcacccCtgagcccccaggttacagcc	6	8	6	21	1	3	1	2	1	1	0	5	1	4	1	7	1	3	1	7	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4776463C>T	ENST00000379400.3	-	5	480	c.285G>A	c.(283-285)caG>caA	p.Q95Q	RASSF2_ENST00000379376.2_Silent_p.Q95Q	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	95					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						TCACTCACCCCTGAGCCCCCA	0.592													T	4776463	C	T	4776463	2	4	364	1	0	0	0	0	0	0	0	1	13174	680	24	2		2	RASSF2	20	4776463	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613384	4776463	58249057	14123	37625											
SLC23A2	9962	broad.mit.edu	37	chr20	4837827	4837827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacacccttcttccatttccGgattcctctttcctctggag	5	15	5	16	1	3	0	0	0	3	0	7	2	7	2	5	2	0	0	5	2	0	5	rs139545711	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4837827G>A	ENST00000379333.1	-	17	2136	c.1744C>T	c.(1744-1746)Cgg>Tgg	p.R582W	SLC23A2_ENST00000424750.2_Missense_Mutation_p.R468W|SLC23A2_ENST00000338244.1_Missense_Mutation_p.R582W	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	582					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TTCCATTTCCGGATTCCTCTT	0.433													A	4837827	G	A	4837827	3	1	364	1	0	0	0	0	1	0	0	0	14557	1115	39	1	212	1	SLC23A2	20	4837827	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	61364	4837827	58187693	14124	37626											
SLC23A2	9962	broad.mit.edu	37	chr20	4864408	4864408	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtacttcagtagagccccaGgcaggccgaggaggccgatg	9	6	15	11	2	1	1	1	0	0	1	1	4	1	2	4	4	2	3	4	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:4864408G>T	ENST00000379333.1	-	9	1096	c.704C>A	c.(703-705)cCt>cAt	p.P235H	SLC23A2_ENST00000468355.1_5'UTR|SLC23A2_ENST00000424750.2_Intron|SLC23A2_ENST00000338244.1_Missense_Mutation_p.P235H	NM_203327.1	NP_976072.1	Q9UGH3	S23A2_HUMAN	solute carrier family 23 (ascorbic acid transporter), member 2	235					L-ascorbic acid metabolic process|molecular hydrogen transport|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|transepithelial L-ascorbic acid transport	apical plasma membrane|integral to plasma membrane|membrane fraction	nucleobase transmembrane transporter activity|sodium-dependent L-ascorbate transmembrane transporter activity|sodium-dependent multivitamin transmembrane transporter activity			endometrium(1)|kidney(3)|large_intestine(9)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TAGAGCCCCAGGCAGGCCGAG	0.577													T	4864408	G	T	4864408	3	4	364	1	0	0	0	0	1	0	0	0	14557	1000	35	4	1284	4	SLC23A2	20	4864408	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26581	4864408	58161112	14125	37627											
CDS2	8760	broad.mit.edu	37	chr20	5155838	5155838	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgacctagatggaagaaCtggtgggtgagaggcatcct	10	9	14	8	0	1	4	0	2	1	3	2	6	2	5	2	4	1	1	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5155838C>T	ENST00000460006.1	+	3	511	c.204C>T	c.(202-204)aaC>aaT	p.N68N	CDS2_ENST00000379062.4_Intron	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	68					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GATGGAAGAACTGGTGGGTGA	0.443													T	5155838	C	T	5155838	2	4	364	1	0	0	0	0	0	0	0	1	3208	564	20	2		2	CDS2	20	5155838	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291430	5155838	57869682	14126	37628											
CDS2	8760	broad.mit.edu	37	chr20	5159552	5159552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagaagagcctttgcGgattctcagtaaataccacc	13	8	9	11	1	1	3	1	0	1	3	2	5	1	4	4	1	3	1	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159552G>A	ENST00000460006.1	+	5	786	c.479G>A	c.(478-480)cGg>cAg	p.R160Q	CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.R40Q	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	160					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						GAGCCTTTGCGGATTCTCAGT	0.393													A	5159552	G	A	5159552	3	1	364	1	0	0	0	0	1	0	0	0	3208	1116	39	1	497	1	CDS2	20	5159552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3714	5159552	57865968	14127	37629											
CDS2	8760	broad.mit.edu	37	chr20	5159588	5159588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccggttcatttcctttaCtctctatctaataggtatgc	8	16	5	12	1	3	0	1	0	2	0	5	0	4	0	3	2	2	2	3	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5159588C>T	ENST00000460006.1	+	5	822	c.515C>T	c.(514-516)aCt>aTt	p.T172I	CDS2_ENST00000535100.1_5'UTR|CDS2_ENST00000379070.3_3'UTR|CDS2_ENST00000379062.4_Missense_Mutation_p.T52I	NM_003818.3	NP_003809.1	O95674	CDS2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 2	172					phospholipid biosynthetic process	integral to membrane|mitochondrial inner membrane	phosphatidate cytidylyltransferase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|stomach(1)	14						ATTTCCTTTACTCTCTATCTA	0.408													T	5159588	C	T	5159588	3	4	364	1	0	0	0	0	1	0	0	0	3208	565	20	2	533	2	CDS2	20	5159588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36	5159588	57865932	14128	37630											
GPCPD1	56261	broad.mit.edu	37	chr20	5560710	5560710	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacacaggaggtttttcagaAtaatgcaaacgtaatcttat	15	12	8	6	1	2	1	1	0	1	1	2	3	2	2	0	2	2	3	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5560710A>C	ENST00000379019.4	-	7	629	c.417T>G	c.(415-417)taT>taG	p.Y139*	GPCPD1_ENST00000481038.1_5'UTR	NM_019593.3	NP_062539.1	Q9NPB8	GPCP1_HUMAN	glycerophosphocholine phosphodiesterase GDE1 homolog (S. cerevisiae)	139					glycerol metabolic process|lipid metabolic process		carbohydrate binding|glycerophosphodiester phosphodiesterase activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|skin(1)	16						GTTTTTCAGAATAATGCAAAC	0.313													C	5560710	A	C	5560710	4	2	364	1	0	0	0	0	0	1	0	0	6657	108	4	5	1657	5	GPCPD1	20	5560710	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	401122	5560710	57464810	14129	37631											
CHGB	1114	broad.mit.edu	37	chr20	5897001	5897001	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccagtggataacaggAaccacaatgaaggaatggta	16	6	11	8	0	0	1	0	1	0	0	0	4	0	4	3	4	3	1	3	4	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5897001A>T	ENST00000378961.4	+	2	283	c.79A>T	c.(79-81)Aac>Tac	p.N27Y	CHGB_ENST00000488832.1_3'UTR	NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	27						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						GGATAACAGGAACCACAATGA	0.398													T	5897001	A	T	5897001	3	4	364	1	0	0	0	0	1	0	0	0	3369	246	9	5	85	5	CHGB	20	5897001	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	336291	5897001	57128519	14130	37632											
TRMT6	51605	broad.mit.edu	37	chr20	5922666	5922666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctgctcttcttgtctcCtctgtttttcctgaatcttc	2	21	4	14	0	6	1	0	1	6	0	10	1	8	1	3	0	1	2	3	0	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5922666C>A	ENST00000203001.2	-	8	1173	c.1043G>T	c.(1042-1044)aGg>aTg	p.R348M	TRMT6_ENST00000473131.1_5'UTR|TRMT6_ENST00000453074.2_Missense_Mutation_p.R178M	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	348					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						TTCTTGTCTCCTCTGTTTTTC	0.423													A	5922666	C	A	5922666	3	1	364	1	0	0	0	0	1	0	0	0	16669	681	24	4	466	4	TRMT6	20	5922666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25665	5922666	57102854	14131	37633											
MCM8	84515	broad.mit.edu	37	chr20	5948125	5948125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagagaagcaggtcggAttccacgaacaatagaatgt	16	7	11	7	2	1	3	1	0	0	3	3	6	2	4	1	2	2	1	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948125A>G	ENST00000378896.3	+	9	1296	c.919A>G	c.(919-921)Att>Gtt	p.I307V	MCM8_ENST00000265187.4_Missense_Mutation_p.I307V|MCM8_ENST00000378886.2_Missense_Mutation_p.I307V|MCM8_ENST00000378883.1_Missense_Mutation_p.I307V	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	307					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						AGCAGGTCGGATTCCACGAAC	0.393													G	5948125	A	G	5948125	3	3	364	1	0	0	0	0	1	0	0	0	9468	333	12	3	949	3	MCM8	20	5948125	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	25459	5948125	57077395	14132	37634											
MCM8	84515	broad.mit.edu	37	chr20	5948475	5948475	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttaacacttttaatttacaGgttctcgaaataagaatgac	15	15	5	6	1	1	2	0	1	1	1	2	3	1	2	0	1	2	1	0	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5948475G>A	ENST00000378896.3	+	10	1404		c.e10-1		MCM8_ENST00000265187.4_Intron|MCM8_ENST00000378886.2_Splice_Site|MCM8_ENST00000378883.1_Splice_Site	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8						cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTAATTTACAGGTTCTCGAAA	0.303													A	5948475	G	A	5948475	5	1	364	1	0	0	0	0	0	0	1	0	9468	1014	35	2	1061	2	MCM8	20	5948475	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350	5948475	57077045	14133	37635											
MCM8	84515	broad.mit.edu	37	chr20	5974203	5974203	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacctagattttgagcgatcCcagcatggttctggaatgag	11	11	11	8	1	1	3	0	2	1	1	2	5	2	4	2	2	3	2	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:5974203C>A	ENST00000378896.3	+	18	2669	c.2292C>A	c.(2290-2292)tcC>tcA	p.S764S	MCM8_ENST00000265187.4_Silent_p.S748S|MCM8_ENST00000378886.2_Silent_p.S804S|MCM8_ENST00000378883.1_Silent_p.S717S	NM_001281520.1|NM_032485.4|NM_182802.1	NP_001268449.1|NP_115874.3|NP_877954.1	Q9UJA3	MCM8_HUMAN	minichromosome maintenance complex component 8	764					cell cycle checkpoint|DNA strand elongation involved in DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|transcription, DNA-dependent	nucleoplasm	ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	23						TTGAGCGATCCCAGCATGGTT	0.363													A	5974203	C	A	5974203	2	1	364	1	0	0	0	0	0	0	0	1	9468	610	22	4		4	MCM8	20	5974203	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25728	5974203	57051317	14134	37636											
LRRN4	164312	broad.mit.edu	37	chr20	6022181	6022181	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttccccgctgaggccgggGcaccggcaccgccaccgcct	4	5	12	20	5	1	1	0	1	1	0	2	1	2	1	8	4	0	3	8	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022181G>A	ENST00000378858.4	-	5	1934	c.1710C>T	c.(1708-1710)tgC>tgT	p.C570C		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	570						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TGAGGCCGGGGCACCGGCACC	0.701													A	6022181	G	A	6022181	2	1	364	1	0	0	0	0	0	0	0	1	9107	1195	42	2		2	LRRN4	20	6022181	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47978	6022181	57003339	14135	37637											
LRRN4	164312	broad.mit.edu	37	chr20	6022650	6022650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccatgcagctatcgtgcgaGagcccacgttaggggccttg	7	8	14	12	3	0	1	0	0	0	1	1	2	0	1	3	2	4	3	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022650G>A	ENST00000378858.4	-	5	1465	c.1241C>T	c.(1240-1242)tCt>tTt	p.S414F		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	414						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						TATCGTGCGAGAGCCCACGTT	0.672													A	6022650	G	A	6022650	3	1	364	1	0	0	0	0	1	0	0	0	9107	942	33	2	985	2	LRRN4	20	6022650	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	6022650	57002870	14136	37638											
LRRN4	164312	broad.mit.edu	37	chr20	6022760	6022760	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtaggtggagcggttgaaGcaaggtgggtgtgaagcccc	8	7	19	7	2	0	2	0	2	0	0	0	3	0	3	2	5	3	3	2	5	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6022760G>T	ENST00000378858.4	-	5	1355	c.1131C>A	c.(1129-1131)tgC>tgA	p.C377*		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	377						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						AGCGGTTGAAGCAAGGTGGGT	0.677													T	6022760	G	T	6022760	4	4	364	1	0	0	0	0	0	1	0	0	9107	963	34	4	1095	4	LRRN4	20	6022760	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110	6022760	57002760	14137	37639											
LRRN4	164312	broad.mit.edu	37	chr20	6031520	6031520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgacagtccagctgctgCaggttgggggtcatcttgaa	7	11	13	10	0	2	2	1	2	1	0	4	2	4	2	2	3	3	4	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6031520C>T	ENST00000378858.4	-	3	989	c.765G>A	c.(763-765)ctG>ctA	p.L255L		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	255						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CCAGCTGCTGCAGGTTGGGGG	0.547													T	6031520	C	T	6031520	2	4	364	1	0	0	0	0	0	0	0	1	9107	697	25	2		2	LRRN4	20	6031520	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8760	6031520	56994000	14138	37640											
FERMT1	55612	broad.mit.edu	37	chr20	6065807	6065807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagccacctgagatgcaGagttcctgtttttcatcctc	8	13	9	11	0	1	2	1	1	0	2	4	4	3	3	4	1	2	3	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6065807G>T	ENST00000217289.4	-	12	2287	c.1499C>A	c.(1498-1500)tCt>tAt	p.S500Y	FERMT1_ENST00000536936.1_Missense_Mutation_p.S243Y|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	500	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGAGATGCAGAGTTCCTGTT	0.478													T	6065807	G	T	6065807	3	4	364	1	0	0	0	0	1	0	0	0	5866	942	33	4	550	4	FERMT1	20	6065807	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34287	6065807	56959713	14139	37641											
FERMT1	55612	broad.mit.edu	37	chr20	6068529	6068529	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgggcacaacttcgcaGcctgaaggacaaagatcaga	15	5	10	11	2	1	3	1	1	0	2	3	4	1	4	1	2	2	2	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6068529G>A	ENST00000217289.4	-	11	2054	c.1266C>T	c.(1264-1266)ggC>ggT	p.G422G	FERMT1_ENST00000536936.1_Splice_Site_p.G165G|FERMT1_ENST00000478194.1_5'UTR	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	422	FERM.|PH.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CAACTTCGCAGCCTGAAGGAC	0.398													A	6068529	G	A	6068529	5	1	364	1	0	0	0	0	0	0	1	0	5866	985	34	2	787	2	FERMT1	20	6068529	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2722	6068529	56956991	14140	37642											
FERMT1	55612	broad.mit.edu	37	chr20	6096604	6096604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcatctgcctggaccccaTatttgtccagggtccagtgg	6	12	11	12	0	1	0	0	0	1	0	3	1	3	1	5	3	2	1	5	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:6096604T>C	ENST00000217289.4	-	3	1027	c.239A>G	c.(238-240)tAt>tGt	p.Y80C	FERMT1_ENST00000536936.1_De_novo_Start_InFrame	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	80					cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						CTGGACCCCATATTTGTCCAG	0.488													C	6096604	T	C	6096604	3	2	364	1	0	0	0	0	1	0	0	0	5866	1406	49	3	1846	3	FERMT1	20	6096604	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28075	6096604	56928916	14141	37643											
TMX4	56255	broad.mit.edu	37	chr20	7980487	7980487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgggccacgataacggCggaatatcccatcctttgca	9	10	9	13	3	0	0	0	0	0	0	3	2	3	1	4	3	2	1	4	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:7980487C>T	ENST00000246024.2	-	4	574	c.359G>A	c.(358-360)cGc>cAc	p.R120H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	120	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						ACGATAACGGCGGAATATCCC	0.388													T	7980487	C	T	7980487	3	4	364	1	0	0	0	0	1	0	0	0	16369	768	27	1	710	1	TMX4	20	7980487	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1883883	7980487	55045033	14142	37644											
PLCB4	5332	broad.mit.edu	37	chr20	9319618	9319618	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcggatagtttgtgtctgCagtggcacagatctagtgaa	9	11	15	6	1	2	2	0	1	2	1	2	3	2	3	0	3	1	3	0	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9319618C>T	ENST00000378501.2	+	4	318	c.303C>T	c.(301-303)tgC>tgT	p.C101C	PLCB4_ENST00000278655.4_Silent_p.C101C|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Silent_p.C101C|PLCB4_ENST00000334005.3_Silent_p.C101C|PLCB4_ENST00000378473.3_Silent_p.C101C|PLCB4_ENST00000378493.1_Silent_p.C101C	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	101					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TTTGTGTCTGCAGTGGCACAG	0.433													T	9319618	C	T	9319618	2	4	364	1	0	0	0	0	0	0	0	1	12107	718	25	2		2	PLCB4	20	9319618	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1339131	9319618	53705902	14143	37645											
PLCB4	5332	broad.mit.edu	37	chr20	9424888	9424888	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttaaagaagaaacatgcaAaggtacagtgctctacagct	16	9	8	8	0	1	2	0	0	1	2	1	2	1	2	0	1	6	4	0	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9424888A>T	ENST00000378501.2	+	28	2857	c.2842A>T	c.(2842-2844)Aag>Tag	p.K948*	PLCB4_ENST00000278655.4_Nonsense_Mutation_p.K948*|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000414679.2_Nonsense_Mutation_p.K960*|PLCB4_ENST00000334005.3_Nonsense_Mutation_p.K948*|PLCB4_ENST00000378473.3_Nonsense_Mutation_p.K960*|PLCB4_ENST00000378493.1_Nonsense_Mutation_p.K948*	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	948					intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GAAACATGCAAAGGTACAGTG	0.338													T	9424888	A	T	9424888	4	4	364	1	0	0	0	0	0	1	0	0	12107	15	1	5	2992	5	PLCB4	20	9424888	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	105270	9424888	53600632	14144	37646											
PAK7	57144	broad.mit.edu	37	chr20	9525092	9525092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccaatgatttcctcttcGgcacctctttggaaacttga	10	13	6	12	1	2	2	0	2	2	0	4	3	3	3	3	2	2	1	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9525092G>A	ENST00000378429.3	-	9	2339	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	PAK7_ENST00000378423.1_Missense_Mutation_p.P598L|PAK7_ENST00000353224.5_Missense_Mutation_p.P598L	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	598	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			TTTCCTCTTCGGCACCTCTTT	0.448													A	9525092	G	A	9525092	3	1	364	1	0	0	0	0	1	0	0	0	11481	1116	39	1	378	1	PAK7	20	9525092	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	100204	9525092	53500428	14145	37647											
PAK7	57144	broad.mit.edu	37	chr20	9560823	9560823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acattgtgggctcggacaagCgagggtaggtgtaggagttg	9	9	18	5	2	0	0	0	0	0	0	1	3	0	2	0	5	1	4	0	5	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:9560823C>T	ENST00000378429.3	-	5	1505	c.959G>A	c.(958-960)cGc>cAc	p.R320H	PAK7_ENST00000378423.1_Missense_Mutation_p.R320H|PAK7_ENST00000353224.5_Missense_Mutation_p.R320H	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	320	Linker.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CTCGGACAAGCGAGGGTAGGT	0.537													T	9560823	C	T	9560823	3	4	364	1	0	0	0	0	1	0	0	0	11481	768	27	1	1228	1	PAK7	20	9560823	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35731	9560823	53464697	14146	37648											
SNAP25	6616	broad.mit.edu	37	chr20	10273855	10273855	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaccaaatcaataaggaCatgaaagaagcagaaaagaa	23	4	9	5	0	1	4	1	1	0	3	1	6	1	6	1	2	1	1	1	2	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10273855C>T	ENST00000254976.2	+	5	421	c.210C>T	c.(208-210)gaC>gaT	p.D70D	SNAP25-AS1_ENST00000421143.2_RNA|SNAP25-AS1_ENST00000453544.1_RNA|SNAP25_ENST00000304886.2_Intron	NM_130811.2	NP_570824.1	P60880	SNP25_HUMAN	synaptosomal-associated protein, 25kDa	70	Interaction with CENPF (By similarity).|t-SNARE coiled-coil homology 1.				energy reserve metabolic process|glutamate secretion|neurotransmitter uptake|synaptic vesicle docking involved in exocytosis	cell junction|growth cone|perinuclear region of cytoplasm|synapse|synaptosome				endometrium(1)|large_intestine(2)|lung(8)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	18					Botulinum Toxin Type A(DB00083)	TCAATAAGGACATGAAAGAAG	0.438													T	10273855	C	T	10273855	2	4	364	1	0	0	0	0	0	0	0	1	14924	477	17	2		2	SNAP25	20	10273855	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	713032	10273855	52751665	14147	37649											
JAG1	182	broad.mit.edu	37	chr20	10625533	10625533	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagcacagatgggcccctcCcagccttccttgcagacgca	8	7	10	16	1	0	3	0	1	0	2	2	3	2	3	5	1	3	3	5	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625533C>T	ENST00000254958.5	-	18	2837	c.2322G>A	c.(2320-2322)tgG>tgA	p.W774*	JAG1_ENST00000423891.2_Nonsense_Mutation_p.W615*	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	774	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TGGGCCCCTCCCAGCCTTCCT	0.587									Alagille Syndrome				T	10625533	C	T	10625533	4	4	364	1	0	0	0	0	0	1	0	0	7992	624	22	2	1370	2	JAG1	20	10625533	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351678	10625533	52399987	14148	37650											
JAG1	182	broad.mit.edu	37	chr20	10625555	10625555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccttccttgcagacgcacGtaaaggactcgccgttgacc	9	8	10	14	4	0	2	0	1	0	1	2	3	1	3	4	1	2	4	4	1	2	4	rs140330283	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10625555G>A	ENST00000254958.5	-	18	2815	c.2300C>T	c.(2299-2301)aCg>aTg	p.T767M	JAG1_ENST00000423891.2_Missense_Mutation_p.T608M	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	767	EGF-like 14.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GCAGACGCACGTAAAGGACTC	0.592									Alagille Syndrome				A	10625555	G	A	10625555	3	1	364	1	0	0	0	0	1	0	0	0	7992	1145	40	1	1392	1	JAG1	20	10625555	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22	10625555	52399965	14149	37651											
JAG1	182	broad.mit.edu	37	chr20	10628720	10628720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggttgtagcactgggcaccGttctggcagggattaggctc	6	10	15	10	2	1	0	0	0	1	0	2	1	1	1	1	5	1	7	1	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10628720G>A	ENST00000254958.5	-	13	2123	c.1608C>T	c.(1606-1608)aaC>aaT	p.N536N	JAG1_ENST00000423891.2_Silent_p.N377N	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	536	EGF-like 9.				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						ACTGGGCACCGTTCTGGCAGG	0.517									Alagille Syndrome				A	10628720	G	A	10628720	2	1	364	1	0	0	0	0	0	0	0	1	7992	1136	40	1		1	JAG1	20	10628720	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3165	10628720	52396800	14150	37652											
JAG1	182	broad.mit.edu	37	chr20	10639258	10639258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtagtcatcacaggtcacGcggatctgatactcaaagtg	12	10	10	9	2	5	1	4	1	1	0	5	2	5	2	0	2	1	1	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:10639258G>A	ENST00000254958.5	-	4	1067	c.552C>T	c.(550-552)cgC>cgT	p.R184R	JAG1_ENST00000423891.2_Silent_p.R25R	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	184			R -> C (in ALGS1).|R -> G (in ALGS1).|R -> H (in ALGS1).|R -> L (in ALGS1).		angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						CACAGGTCACGCGGATCTGAT	0.522									Alagille Syndrome				A	10639258	G	A	10639258	2	1	364	1	0	0	0	0	0	0	0	1	7992	1074	38	1		1	JAG1	20	10639258	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10538	10639258	52386262	14151	37653											
SPTLC3	55304	broad.mit.edu	37	chr20	13098296	13098296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttctttggactagaccCtcatgaagttgatgtgctca	9	13	11	8	0	3	3	2	2	1	1	3	5	3	5	1	2	1	3	1	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13098296C>T	ENST00000399002.2	+	8	1350	c.1076C>T	c.(1075-1077)cCt>cTt	p.P359L	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	359					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGACTAGACCCTCATGAAGTT	0.502													T	13098296	C	T	13098296	3	4	364	1	0	0	0	0	1	0	0	0	15221	681	24	2	1106	2	SPTLC3	20	13098296	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2459038	13098296	49927224	14152	37654											
TASP1	55617	broad.mit.edu	37	chr20	13514789	13514789	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtgcctgagtcattttcCtgcagagcaaaagtggcaca	13	9	10	9	0	1	2	1	1	0	1	2	2	2	2	2	1	3	3	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13514789C>T	ENST00000337743.4	-	9	796		c.e9-1		TASP1_ENST00000539805.1_Intron|TASP1_ENST00000480436.1_Splice_Site	NM_017714.2	NP_060184.2	Q9H6P5	TASP1_HUMAN	taspase, threonine aspartase, 1						asparagine catabolic process via L-aspartate|positive regulation of transcription, DNA-dependent|protein maturation		threonine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(11)|liver(1)|lung(11)|stomach(2)|urinary_tract(2)	31						AGTCATTTTCCTGCAGAGCAA	0.478													T	13514789	C	T	13514789	5	4	364	1	0	0	0	0	0	0	1	0	15686	695	24	2	611	2	TASP1	20	13514789	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	416493	13514789	49510731	14153	37655											
ESF1	51575	broad.mit.edu	37	chr20	13763274	13763275	+	Frame_Shift_Ins	INS	-	-	T																															ctgtagtatgttgaacaatgINSttttttttctctttcttatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13763274_13763275insT	ENST00000202816.1	-	2	619_620	c.512_513insA	c.(511-513)aacfs	p.N171fs		NM_001276380.1|NM_016649.3	NP_001263309.1|NP_057733.2	Q9H501	ESF1_HUMAN	ESF1, nucleolar pre-rRNA processing protein, homolog (S. cerevisiae)	171					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|nucleoplasm		p.N171fs*18(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|skin(1)|stomach(1)	31						GTTGAACAATGTTTTTTTTCTC	0.317													T	13763275	-	T	13763274	7	5	364	1	0	1	1	0	0	0	0	0	5292	1368	48	0	2094	0	ESF1	20	13763274	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	248485	13763274	49262246	14154	37656											
SEL1L2	80343	broad.mit.edu	37	chr20	13868588	13868588	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatattttgtttacaaacCaaaatcatctgggacatcat	16	13	5	7	0	3	1	2	0	1	1	3	2	3	2	1	1	2	1	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:13868588C>A	ENST00000284951.5	-	7	737	c.663G>T	c.(661-663)ttG>ttT	p.L221F	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Splice_Site_p.L221F			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	221						integral to membrane	binding	p.L221L(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GTTTACAAACCAAAATCATCT	0.358													A	13868588	C	A	13868588	5	1	364	1	0	0	0	0	0	0	1	0	14104	608	21	4	1459	4	SEL1L2	20	13868588	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105314	13868588	49156932	14155	37657											
MACROD2	140733	broad.mit.edu	37	chr20	15210598	15210598	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttacagatgtcatccataCtgtagggccaatagccaggg	12	10	10	9	0	1	1	1	0	0	1	2	1	2	1	3	2	3	1	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15210598C>A	ENST00000217246.4	+	6	826	c.431C>A	c.(430-432)aCt>aAt	p.T144N	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.T144N	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	144	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				GTCATCCATACTGTAGGGCCA	0.338													A	15210598	C	A	15210598	3	1	364	1	0	0	0	0	1	0	0	0	9217	565	20	4	453	4	MACROD2	20	15210598	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1342010	15210598	47814922	14156	37658											
MACROD2	140733	broad.mit.edu	37	chr20	15948229	15948229	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaaaatattacaaaaggCggtgaagtgacagatcattc	17	9	10	5	1	1	4	1	3	0	1	2	5	1	4	0	2	1	0	0	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:15948229C>T	ENST00000217246.4	+	13	1334	c.939C>T	c.(937-939)ggC>ggT	p.G313G	MACROD2_ENST00000402914.1_Silent_p.G78G|MACROD2_ENST00000378058.3_Silent_p.G78G|MACROD2_ENST00000310348.4_Silent_p.G313G	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	313	Glu-rich.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				TTACAAAAGGCGGTGAAGTGA	0.378													T	15948229	C	T	15948229	2	4	364	1	0	0	0	0	0	0	0	1	9217	755	27	1		1	MACROD2	20	15948229	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	737631	15948229	47077291	14157	37659											
KIF16B	55614	broad.mit.edu	37	chr20	16385459	16385459	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctgttcactcaccCggggttatacaacatgactg	9	11	10	11	1	2	1	2	1	0	0	2	2	2	1	1	2	4	4	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16385459C>T	ENST00000354981.2	-	17	1940	c.1783G>A	c.(1783-1785)Gga>Aga	p.G595R	KIF16B_ENST00000355755.3_Splice_Site_p.G595R|KIF16B_ENST00000408042.1_Splice_Site_p.G595R|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	595					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TTCACTCACCCGGGGTTATAC	0.473													T	16385459	C	T	16385459	5	4	364	1	0	0	0	0	0	0	1	0	8336	666	23	1	2210	1	KIF16B	20	16385459	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	437230	16385459	46640061	14158	37660											
KIF16B	55614	broad.mit.edu	37	chr20	16486802	16486802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaagtggatcttactgaCggtttcacatggcatttcag	11	12	9	9	1	3	1	2	1	1	0	3	2	3	2	1	3	2	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:16486802C>T	ENST00000354981.2	-	8	890	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	KIF16B_ENST00000355755.3_Missense_Mutation_p.V245I|KIF16B_ENST00000408042.1_Missense_Mutation_p.V245I|KIF16B_ENST00000378003.2_5'UTR	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	245	Kinesin-motor.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCTTACTGACGGTTTCACAT	0.438													T	16486802	C	T	16486802	3	4	364	1	0	0	0	0	1	0	0	0	8336	536	19	1	3296	1	KIF16B	20	16486802	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101343	16486802	46538718	14159	37661											
BFSP1	631	broad.mit.edu	37	chr20	17474837	17474837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggaaatcttctcgataGattccaccacttccactgtc	9	12	6	14	2	2	1	0	0	2	1	6	3	4	2	4	1	0	0	4	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17474837G>T	ENST00000377873.3	-	8	1919	c.1880C>A	c.(1879-1881)tCt>tAt	p.S627Y	BFSP1_ENST00000544874.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S488Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S502Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	627	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTTCTCGATAGATTCCACCAC	0.483													T	17474837	G	T	17474837	3	4	364	1	0	0	0	0	1	0	0	0	1421	942	33	4	121	4	BFSP1	20	17474837	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	988035	17474837	45550683	14160	37662											
BFSP1	631	broad.mit.edu	37	chr20	17475209	17475209	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccgtcataaagcacaGagtcttccgcaacagaaaca	14	6	8	13	2	2	2	1	0	1	2	3	2	3	2	3	1	3	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475209G>T	ENST00000377873.3	-	8	1547	c.1508C>A	c.(1507-1509)tCt>tAt	p.S503Y	BFSP1_ENST00000544874.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000536626.1_Missense_Mutation_p.S364Y|BFSP1_ENST00000377868.2_Missense_Mutation_p.S378Y	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	503	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						ATAAAGCACAGAGTCTTCCGC	0.547													T	17475209	G	T	17475209	3	4	364	1	0	0	0	0	1	0	0	0	1421	942	33	4	493	4	BFSP1	20	17475209	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372	17475209	45550311	14161	37663											
BFSP1	631	broad.mit.edu	37	chr20	17475552	17475552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccaaaccttttaatggtgCatcttccagagctccgttgg	8	14	8	11	1	1	1	0	0	1	1	4	1	4	1	4	2	3	3	4	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17475552C>T	ENST00000377873.3	-	8	1204	c.1165G>A	c.(1165-1167)Gca>Aca	p.A389T	BFSP1_ENST00000544874.1_Missense_Mutation_p.A250T|BFSP1_ENST00000536626.1_Missense_Mutation_p.A250T|BFSP1_ENST00000377868.2_Missense_Mutation_p.A264T	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	389	Tail.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTTAATGGTGCATCTTCCAGA	0.393													T	17475552	C	T	17475552	3	4	364	1	0	0	0	0	1	0	0	0	1421	710	25	2	836	2	BFSP1	20	17475552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	343	17475552	45549968	14162	37664											
BFSP1	631	broad.mit.edu	37	chr20	17505504	17505504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgctcaccttgttaagccGttcaagcatttcttttagca	8	15	6	12	2	3	0	2	0	1	0	4	0	4	0	3	0	3	5	3	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17505504G>A	ENST00000377873.3	-	2	466	c.427C>T	c.(427-429)Cgg>Tgg	p.R143W	BFSP1_ENST00000544874.1_Missense_Mutation_p.R4W|BFSP1_ENST00000536626.1_Missense_Mutation_p.R4W|BFSP1_ENST00000377868.2_Missense_Mutation_p.R18W|BFSP1_ENST00000473415.1_5'UTR	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	143	Coil 1B.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						TTGTTAAGCCGTTCAAGCATT	0.423													A	17505504	G	A	17505504	3	1	364	1	0	0	0	0	1	0	0	0	1421	1144	40	1	1598	1	BFSP1	20	17505504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29952	17505504	45520016	14163	37665											
DSTN	11034	broad.mit.edu	37	chr20	17587726	17587726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggaccagaagatctcaatCgggcttgtattgctgaaaag	13	10	11	7	1	1	3	1	1	1	2	3	4	1	4	1	2	1	3	1	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17587726C>T	ENST00000246069.7	+	4	779	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	DSTN_ENST00000474024.1_Missense_Mutation_p.R128W	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						AGATCTCAATCGGGCTTGTAT	0.383													T	17587726	C	T	17587726	3	4	364	1	0	0	0	0	1	0	0	0	4823	875	31	1	447	1	DSTN	20	17587726	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	82222	17587726	45437794	14164	37666											
RRBP1	6238	broad.mit.edu	37	chr20	17608171	17608171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgtcctgggcatcccgcGcctggcccgcctccagcagg	4	5	14	18	4	0	0	0	0	0	0	3	1	3	1	6	4	1	2	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17608171G>A	ENST00000377813.1	-	10	3209	c.2906C>T	c.(2905-2907)gCg>gTg	p.A969V	RRBP1_ENST00000455029.2_Missense_Mutation_p.A310V|RRBP1_ENST00000360807.4_Missense_Mutation_p.A536V|RRBP1_ENST00000377807.2_Missense_Mutation_p.A536V|RRBP1_ENST00000246043.4_Missense_Mutation_p.A969V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	969					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GGCATCCCGCGCCTGGCCCGC	0.672													A	17608171	G	A	17608171	3	1	364	1	0	0	0	0	1	0	0	0	13769	1087	38	1	1390	1	RRBP1	20	17608171	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20445	17608171	45417349	14165	37667											
SNX5	27131	broad.mit.edu	37	chr20	17929569	17929569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgagcatgtagtatcggaGgagctctgttagcttcaaat	10	13	12	6	1	2	1	1	1	1	0	3	3	2	3	0	2	3	7	0	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:17929569G>T	ENST00000377768.3	-	11	1195	c.883C>A	c.(883-885)Ctc>Atc	p.L295I	SNX5_ENST00000377759.4_Missense_Mutation_p.L295I|SNX5_ENST00000483485.1_5'UTR	NM_152227.1	NP_689413.1	Q9Y5X3	SNX5_HUMAN	sorting nexin 5	295	BAR.				cell communication|pinocytosis|protein transport	cytoplasmic vesicle membrane|early endosome membrane|extrinsic to endosome membrane|extrinsic to internal side of plasma membrane|macropinocytic cup|phagocytic cup|ruffle	phosphatidylinositol binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	11						TAGTATCGGAGGAGCTCTGTT	0.413													T	17929569	G	T	17929569	3	4	364	1	0	0	0	0	1	0	0	0	14999	1000	35	4	347	4	SNX5	20	17929569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	321398	17929569	45095951	14166	37668											
OVOL2	58495	broad.mit.edu	37	chr20	18005549	18005549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggactccagagagcagcGctgggtgaaggctttattgc	8	9	16	8	1	0	2	0	1	0	1	1	4	1	3	1	3	3	3	1	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:18005549G>A	ENST00000278780.6	-	4	801	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C	OVOL2_ENST00000483661.1_5'UTR	NM_021220.2	NP_067043.2	Q9BRP0	OVOL2_HUMAN	ovo-like zinc finger 2	187					negative regulation of keratinocyte differentiation|negative regulation of Notch signaling pathway|negative regulation of transcription by competitive promoter binding|regulation of cell cycle|regulation of keratinocyte proliferation|transcription, DNA-dependent	nucleus	DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(3)	6						AGAGAGCAGCGCTGGGTGAAG	0.552													A	18005549	G	A	18005549	3	1	364	1	0	0	0	0	1	0	0	0	11403	1087	38	1	272	1	OVOL2	20	18005549	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75980	18005549	45019971	14167	37669											
SLC24A3	57419	broad.mit.edu	37	chr20	19665995	19665995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggaccgtacacaccattCgacaccccctgtaagaggtt	12	7	9	13	2	0	1	0	0	0	1	1	4	0	2	4	2	1	3	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19665995C>T	ENST00000328041.6	+	12	1511	c.1314C>T	c.(1312-1314)ttC>ttT	p.F438F		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	438						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACACACCATTCGACACCCCCT	0.468													T	19665995	C	T	19665995	2	4	364	1	0	0	0	0	0	0	0	1	14561	883	31	1		1	SLC24A3	20	19665995	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1660446	19665995	43359525	14168	37670											
RIN2	54453	broad.mit.edu	37	chr20	19951529	19951529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccttatgccatttcaacagCcaagtcggaggctcagcttg	9	10	10	12	1	2	0	2	0	0	0	3	1	2	1	3	2	4	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:19951529C>T	ENST00000255006.6	+	7	880	c.731C>T	c.(730-732)gCc>gTc	p.A244V	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	195					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						ATTTCAACAGCCAAGTCGGAG	0.438													T	19951529	C	T	19951529	3	4	364	1	0	0	0	0	1	0	0	0	13463	739	26	2	606	2	RIN2	20	19951529	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285534	19951529	43073991	14169	37671											
CRNKL1	51340	broad.mit.edu	37	chr20	20023022	20023022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccaaagataaatgtagcGcttccagtgcctcttctcct	10	12	7	12	1	2	1	0	0	2	1	5	2	4	1	4	0	2	2	4	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20023022G>A	ENST00000377340.2	-	9	1625	c.1594C>T	c.(1594-1596)Cgc>Tgc	p.R532C	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R520C|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R371C	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	532					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TAAATGTAGCGCTTCCAGTGC	0.453													A	20023022	G	A	20023022	3	1	364	1	0	0	0	0	1	0	0	0	3922	1087	38	1	980	1	CRNKL1	20	20023022	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71493	20023022	43002498	14170	37672											
CRNKL1	51340	broad.mit.edu	37	chr20	20030056	20030056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcacagtcctgttttttCttatattatcttcaaaagtc	11	19	3	8	0	4	0	2	0	2	0	6	0	5	0	1	0	0	1	1	0	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20030056C>A	ENST00000377340.2	-	4	738	c.707G>T	c.(706-708)aGa>aTa	p.R236I	CRNKL1_ENST00000377327.4_Missense_Mutation_p.R224I|CRNKL1_ENST00000536226.1_Missense_Mutation_p.R75I	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	236					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						CCTGTTTTTTCTTATATTATC	0.343													A	20030056	C	A	20030056	3	1	364	1	0	0	0	0	1	0	0	0	3922	913	32	4	1887	4	CRNKL1	20	20030056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7034	20030056	42995464	14171	37673											
CRNKL1	51340	broad.mit.edu	37	chr20	20036606	20036606	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctactgtttttgtcaacaGcatttcccaaagtgtccttc	9	15	5	12	0	1	0	1	0	0	0	4	0	3	0	3	0	3	2	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20036606G>T	ENST00000377340.2	-	1	84	c.53C>A	c.(52-54)gCt>gAt	p.A18D	C20orf26_ENST00000377309.2_Intron|CRNKL1_ENST00000377327.4_Missense_Mutation_p.A18D|C20orf26_ENST00000389656.3_Intron|C20orf26_ENST00000377306.1_Intron|C20orf26_ENST00000245957.5_Intron	NM_001278628.1|NM_016652.4	NP_001265557.1|NP_057736.4	Q9BZJ0	CRNL1_HUMAN	crooked neck pre-mRNA splicing factor 1	18					spliceosome assembly	catalytic step 2 spliceosome|cytoplasm|nuclear speck	RNA binding			breast(2)|cervix(2)|endometrium(7)|large_intestine(11)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(6)	45						TTTGTCAAcagcatttcccaa	0.418													T	20036606	G	T	20036606	3	4	364	1	0	0	0	0	1	0	0	0	3922	971	34	4	2553	4	CRNKL1	20	20036606	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6550	20036606	42988914	14172	37674											
C20orf26	26074	broad.mit.edu	37	chr20	20180469	20180469	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcattacttggttcccgtgCgaccacgacgacagattgtc	8	12	9	12	4	1	1	1	0	0	1	3	4	2	1	2	1	2	1	2	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20180469C>T	ENST00000245957.5	+	17	1931	c.1855C>T	c.(1855-1857)Cga>Tga	p.R619*	C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	619								p.R619R(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GGTTCCCGTGCGACCACGACG	0.532													T	20180469	C	T	20180469	4	4	364	1	0	0	0	0	0	1	0	0	2127	760	27	1	1949	1	C20orf26	20	20180469	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	143863	20180469	42845051	14173	37675											
RALGAPA2	57186	broad.mit.edu	37	chr20	20501713	20501713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgactctgttgggtgtacGtgcttgagccacacacacag	9	10	12	10	1	1	2	0	2	1	0	1	2	1	2	1	1	3	3	1	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20501713G>A	ENST00000202677.7	-	31	3939	c.3932C>T	c.(3931-3933)aCg>aTg	p.T1311M		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TTGGGTGTACGTGCTTGAGCC	0.527													A	20501713	G	A	20501713	3	1	364	1	0	0	0	0	1	0	0	0	13102	1145	40	1	1725	1	RALGAPA2	20	20501713	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	321244	20501713	42523807	14174	37676											
RALGAPA2	57186	broad.mit.edu	37	chr20	20661389	20661389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttcatagaagatgaaatAtatctgagaatagttggtct	15	15	8	3	0	3	4	1	2	2	3	3	5	3	4	0	1	0	1	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:20661389A>G	ENST00000202677.7	-	2	170	c.163T>C	c.(163-165)Tat>Cat	p.Y55H		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)						activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						AAGATGAAATATATCTGAGAA	0.259													G	20661389	A	G	20661389	3	3	364	1	0	0	0	0	1	0	0	0	13102	449	16	3	5610	3	RALGAPA2	20	20661389	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	159676	20661389	42364131	14175	37677											
XRN2	22803	broad.mit.edu	37	chr20	21327052	21327052	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagctgtgcctggttttaGgttatgggaagctggctgga	7	13	16	5	0	0	1	0	1	0	0	0	3	0	3	1	5	3	5	1	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21327052G>T	ENST00000377191.3	+	17	1624		c.e17-1		XRN2_ENST00000430571.2_Splice_Site|XRN2_ENST00000539513.1_Splice_Site	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2						cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						CCTGGTTTTAGGTTATGGGAA	0.418													T	21327052	G	T	21327052	5	4	364	1	0	0	0	0	0	0	1	0	17562	1014	35	4	1595	4	XRN2	20	21327052	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	665663	21327052	41698468	14176	37678											
XRN2	22803	broad.mit.edu	37	chr20	21367644	21367644	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgatcgtggagggagacaGgtaaatggttgtgggatgaa	12	9	18	2	1	0	3	0	2	0	1	1	7	0	5	0	5	0	2	0	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21367644G>T	ENST00000377191.3	+	29	2882	c.2787G>T	c.(2785-2787)caG>caT	p.Q929H	XRN2_ENST00000430571.2_Splice_Site_p.Q853H|XRN2_ENST00000539513.1_Splice_Site_p.Q875H	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	929					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GAGGGAGACAGGTAAATGGTT	0.483													T	21367644	G	T	21367644	5	4	364	1	0	0	0	0	0	0	1	0	17562	1014	35	4	2901	4	XRN2	20	21367644	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40592	21367644	41657876	14177	37679											
NKX2-2	4821	broad.mit.edu	37	chr20	21494286	21494286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgaccgaaaaccccgTctttgtgttggtcagcgaca	8	11	10	12	3	2	1	1	1	1	0	3	3	3	1	4	1	2	1	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:21494286T>C	ENST00000377142.4	-	1	378	c.22A>G	c.(22-24)Acg>Gcg	p.T8A		NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	8					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GAAAACCCCGTCTTTGTGTTG	0.587													C	21494286	T	C	21494286	3	2	364	1	0	0	0	0	1	0	0	0	10526	1667	58	3	807	3	NKX2-2	20	21494286	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	126642	21494286	41531234	14178	37680											
SSTR4	6754	broad.mit.edu	37	chr20	23016403	23016403	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggccgtagccgacgagCtcttcatgctgagcgtgccc	6	8	12	15	4	2	1	1	1	1	0	2	3	2	1	4	1	5	3	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016403C>A	ENST00000255008.3	+	1	347	c.283C>A	c.(283-285)Ctc>Atc	p.L95I	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	95					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					AGCCGACGAGCTCTTCATGCT	0.657													A	23016403	C	A	23016403	3	1	364	1	0	0	0	0	1	0	0	0	15296	797	28	4	285	4	SSTR4	20	23016403	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1522117	23016403	40009117	14179	37681											
SSTR4	6754	broad.mit.edu	37	chr20	23016577	23016577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccgtggtgcaccctctgCgcgcggcgacctaccggcgg	3	6	16	16	7	1	0	0	0	1	0	1	1	1	0	4	5	3	1	4	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23016577C>T	ENST00000255008.3	+	1	521	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	153					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCACCCTCTGCGCGCGGCGAC	0.667													T	23016577	C	T	23016577	3	4	364	1	0	0	0	0	1	0	0	0	15296	768	27	1	459	1	SSTR4	20	23016577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	174	23016577	40008943	14180	37682											
CD93	22918	broad.mit.edu	37	chr20	23065073	23065073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaccacggtgcctaggAtgtagaataaaagcagcttt	12	9	11	9	1	0	1	0	0	0	1	0	2	0	2	3	3	3	3	3	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065073A>G	ENST00000246006.4	-	1	1904	c.1757T>C	c.(1756-1758)aTc>aCc	p.I586T		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	586					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTGCCTAGGATGTAGAATAA	0.597													G	23065073	A	G	23065073	3	3	364	1	0	0	0	0	1	0	0	0	3077	333	12	3	209	3	CD93	20	23065073	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	48496	23065073	39960447	14181	37683											
CD93	22918	broad.mit.edu	37	chr20	23065232	23065232	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccactgggggccagcatcTtgagtggggcagatgtgatg	8	8	16	9	0	1	3	0	2	1	1	1	3	1	3	2	4	1	2	2	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065232T>C	ENST00000246006.4	-	1	1745	c.1598A>G	c.(1597-1599)aAg>aGg	p.K533R		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	533					cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGCCAGCATCTTGAGTGGGGC	0.672													C	23065232	T	C	23065232	3	2	364	1	0	0	0	0	1	0	0	0	3077	1609	56	3	368	3	CD93	20	23065232	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	159	23065232	39960288	14182	37684											
CD93	22918	broad.mit.edu	37	chr20	23065850	23065850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccttgggggcagcggcacGtgtagtttttcccatggggt	5	11	15	10	2	0	0	0	0	0	0	1	0	1	0	2	5	1	4	2	5	1	4	rs144280933		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23065850G>A	ENST00000246006.4	-	1	1127	c.980C>T	c.(979-981)aCg>aTg	p.T327M		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	327	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GCAGCGGCACGTGTAGTTTTT	0.627													A	23065850	G	A	23065850	3	1	364	1	0	0	0	0	1	0	0	0	3077	1145	40	1	986	1	CD93	20	23065850	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	618	23065850	39959670	14183	37685											
GZF1	64412	broad.mit.edu	37	chr20	23350797	23350797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcccaagaacgatgacGgacacaagactgaacagcct	14	4	10	13	3	0	4	0	2	0	2	1	6	0	5	2	1	3	1	2	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23350797G>A	ENST00000338121.5	+	6	1932	c.1855G>A	c.(1855-1857)Gga>Aga	p.G619R	GZF1_ENST00000542987.1_Missense_Mutation_p.G128R|GZF1_ENST00000377051.2_Missense_Mutation_p.G619R|GZF1_ENST00000544236.1_Missense_Mutation_p.G143R			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	619					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					GAACGATGACGGACACAAGAC	0.433													A	23350797	G	A	23350797	3	1	364	1	0	0	0	0	1	0	0	0	6969	1117	39	1	1873	1	GZF1	20	23350797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284947	23350797	39674723	14184	37686											
CST9	128822	broad.mit.edu	37	chr20	23586319	23586319	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcatgctcctccttgctCtgcacgttgaaagtgttcaa	8	13	9	11	1	2	1	1	1	1	0	4	1	4	1	2	1	3	6	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:23586319C>A	ENST00000376971.3	-	1	194	c.183G>T	c.(181-183)caG>caT	p.Q61H		NM_001008693.2	NP_001008693.2	Q5W186	CST9_HUMAN	cystatin 9 (testatin)	61						extracellular region	cysteine-type endopeptidase inhibitor activity			central_nervous_system(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	12	Colorectal(13;0.0993)					CCTCCTTGCTCTGCACGTTGA	0.507													A	23586319	C	A	23586319	3	1	364	1	0	0	0	0	1	0	0	0	4012	912	32	4	304	4	CST9	20	23586319	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235522	23586319	39439201	14185	37687											
CST7	8530	broad.mit.edu	37	chr20	24939633	24939633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaagaaaaaccagcacCtgcgtctggatgactgtgac	12	7	10	12	1	1	3	0	2	1	1	1	4	1	4	3	1	4	2	3	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:24939633C>A	ENST00000480798.1	+	3	589	c.313C>A	c.(313-315)Ctg>Atg	p.L105M	CST7_ENST00000376835.2_Missense_Mutation_p.L127M	NM_003650.3	NP_003641.3	O76096	CYTF_HUMAN	cystatin F (leukocystatin)	105					immune response	cytoplasm|extracellular region	cysteine-type endopeptidase inhibitor activity			large_intestine(1)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	5						AAACCAGCACCTGCGTCTGGA	0.527													A	24939633	C	A	24939633	3	1	364	1	0	0	0	0	1	0	0	0	4010	680	24	4	323	4	CST7	20	24939633	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1353314	24939633	38085887	14186	37688											
PYGB	5834	broad.mit.edu	37	chr20	25228967	25228967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtggccacgccccgcgaCtacttcttcgcgctggcgca	6	8	11	16	6	1	0	0	0	1	0	2	1	1	0	3	2	1	2	3	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25228967C>T	ENST00000216962.4	+	1	263	c.153C>T	c.(151-153)gaC>gaT	p.D51D		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	51					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CGCCCCGCGACTACTTCTTCG	0.682													T	25228967	C	T	25228967	2	4	364	1	0	0	0	0	0	0	0	1	12948	564	20	2		2	PYGB	20	25228967	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	289334	25228967	37796553	14187	37689											
PYGB	5834	broad.mit.edu	37	chr20	25255257	25255257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgatgactggctgcgctaCggcaacccctgggagaaagc	9	5	14	13	3	0	2	0	1	0	1	0	4	0	2	3	3	4	3	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25255257C>T	ENST00000216962.4	+	5	668	c.558C>T	c.(556-558)taC>taT	p.Y186Y		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	186					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GGCTGCGCTACGGCAACCCCT	0.647													T	25255257	C	T	25255257	2	4	364	1	0	0	0	0	0	0	0	1	12948	547	19	1		1	PYGB	20	25255257	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26290	25255257	37770263	14188	37690											
PYGB	5834	broad.mit.edu	37	chr20	25259041	25259041	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatccgccgcttcaagtcGtccaagttcggctgccggga	7	9	11	14	5	2	0	2	0	0	0	6	1	4	1	4	2	1	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25259041G>A	ENST00000216962.4	+	8	1052	c.942G>A	c.(940-942)tcG>tcA	p.S314S		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	314					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	GCTTCAAGTCGTCCAAGTTCG	0.617													A	25259041	G	A	25259041	2	1	364	1	0	0	0	0	0	0	0	1	12948	1132	40	1		1	PYGB	20	25259041	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3784	25259041	37766479	14189	37691											
NINL	22981	broad.mit.edu	37	chr20	25434110	25434110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagagggctgcgggggCaatcctactgacgagtttgt	9	8	15	9	2	0	2	0	1	0	1	1	4	1	2	1	3	2	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434110C>T	ENST00000278886.6	-	24	4199	c.4126G>A	c.(4126-4128)Gcc>Acc	p.A1376T	NINL_ENST00000422516.1_Missense_Mutation_p.A1027T|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1376					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCTGCGGGGGCAATCCTACTG	0.498													T	25434110	C	T	25434110	3	4	364	1	0	0	0	0	1	0	0	0	10496	710	25	2	26	2	NINL	20	25434110	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	175069	25434110	37591410	14190	37692											
NINL	22981	broad.mit.edu	37	chr20	25434265	25434265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagcaggtcggacttcGtgttcttttcaaactagaga	10	12	10	9	2	3	1	2	0	1	1	5	3	3	2	0	2	3	3	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25434265G>A	ENST00000278886.6	-	24	4044	c.3971C>T	c.(3970-3972)aCg>aTg	p.T1324M	NINL_ENST00000422516.1_Missense_Mutation_p.T975M|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1324					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GTCGGACTTCGTGTTCTTTTC	0.552													A	25434265	G	A	25434265	3	1	364	1	0	0	0	0	1	0	0	0	10496	1145	40	1	181	1	NINL	20	25434265	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155	25434265	37591255	14191	37693											
NINL	22981	broad.mit.edu	37	chr20	25457246	25457246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtgggatgccggggcagggGcgggggccgggctctgcgta	3	5	23	10	5	1	0	0	0	1	0	1	1	1	1	2	8	2	3	2	8	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457246G>A	ENST00000278886.6	-	17	2754	c.2681C>T	c.(2680-2682)gCc>gTc	p.A894V	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	894					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CGGGGCAGGGGCGGGGGCCGG	0.687													A	25457246	G	A	25457246	3	1	364	1	0	0	0	0	1	0	0	0	10496	1203	42	2	1499	2	NINL	20	25457246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22981	25457246	37568274	14192	37694											
NINL	22981	broad.mit.edu	37	chr20	25457694	25457694	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggctcccagccccgacaGctctccactcagctccgcct	6	6	8	21	2	2	0	1	0	1	0	5	1	4	0	6	1	3	3	6	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25457694G>T	ENST00000278886.6	-	17	2306	c.2233C>A	c.(2233-2235)Ctg>Atg	p.L745M	NINL_ENST00000422516.1_Intron	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	745					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						AGCCCCGACAGCTCTCCACTC	0.682													T	25457694	G	T	25457694	3	4	364	1	0	0	0	0	1	0	0	0	10496	962	34	4	1947	4	NINL	20	25457694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	448	25457694	37567826	14193	37695											
NINL	22981	broad.mit.edu	37	chr20	25470565	25470565	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagggccagcctctcCgaatccgaaagcttttccac	9	9	8	15	2	2	0	1	0	1	0	5	2	4	0	5	1	3	2	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25470565C>T	ENST00000278886.6	-	12	1615	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	NINL_ENST00000422516.1_Silent_p.S514S	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	514					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCAGCCTCTCCGAATCCGAAA	0.577													T	25470565	C	T	25470565	2	4	364	1	0	0	0	0	0	0	0	1	10496	639	23	1		1	NINL	20	25470565	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12871	25470565	37554955	14194	37696											
NINL	22981	broad.mit.edu	37	chr20	25491316	25491316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgaggctttaccttgtgCttcaaataattcattctgag	9	15	9	8	0	3	2	2	2	1	0	3	2	3	2	1	2	2	3	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25491316C>T	ENST00000278886.6	-	5	584	c.511G>A	c.(511-513)Gca>Aca	p.A171T	NINL_ENST00000422516.1_Missense_Mutation_p.A171T	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	171					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						TTACCTTGTGCTTCAAATAAT	0.502													T	25491316	C	T	25491316	3	4	364	1	0	0	0	0	1	0	0	0	10496	797	28	2	3717	2	NINL	20	25491316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20751	25491316	37534204	14195	37697											
NINL	22981	broad.mit.edu	37	chr20	25507058	25507058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcaccctggcgaaatggtCgtttccgagaagcgtctgca	9	9	11	12	4	2	1	1	0	1	1	4	3	3	1	2	2	2	2	2	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25507058C>T	ENST00000278886.6	-	2	239	c.166G>A	c.(166-168)Gac>Aac	p.D56N	NINL_ENST00000422516.1_Missense_Mutation_p.D56N	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	56	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GCGAAATGGTCGTTTCCGAGA	0.527													T	25507058	C	T	25507058	3	4	364	1	0	0	0	0	1	0	0	0	10496	884	31	1	4074	1	NINL	20	25507058	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15742	25507058	37518462	14196	37698											
ZNF337	26152	broad.mit.edu	37	chr20	25655668	25655668	+	Nonstop_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatggtgagatataactTcaagatgaagcctcacccac	14	9	9	9	0	2	3	2	2	0	2	2	5	2	4	2	2	2	0	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:25655668T>C	ENST00000376436.1	-	4	2795	c.2256A>G	c.(2254-2256)tgA>tgG	p.*752W	RP4-694B14.5_ENST00000439498.1_RNA|RP4-694B14.5_ENST00000414393.1_RNA|RP4-694B14.5_ENST00000455791.1_RNA|ZNF337_ENST00000252979.5_Nonstop_Mutation_p.*752W|ZNF337_ENST00000538750.1_Nonstop_Mutation_p.*720W					zinc finger protein 337											breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGATATAACTTCAAGATGAAG	0.403													C	25655668	T	C	25655668	4	2	364	1	0	0	0	0	0	0	0	0	17954	1796	62	3	3	3	ZNF337	20	25655668	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	148610	25655668	37369852	14197	37699											
HM13	81502	broad.mit.edu	37	chr20	30115291	30115291	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttctctcctctagaatgCttcagacatgcctgaaacaa	11	13	5	12	0	4	3	1	1	3	2	6	3	5	3	2	0	3	1	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30115291C>A	ENST00000335574.5	+	2	312	c.188C>A	c.(187-189)gCt>gAt	p.A63D	HM13_ENST00000376127.3_Missense_Mutation_p.A63D|HM13_ENST00000340852.5_Missense_Mutation_p.A63D|HM13_ENST00000398174.3_Missense_Mutation_p.A63D	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	63					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			CTCTAGAATGCTTCAGACATG	0.527													A	30115291	C	A	30115291	3	1	364	1	0	0	0	0	1	0	0	0	7272	797	28	4	194	4	HM13	20	30115291	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4459623	30115291	32910229	14198	37700											
HM13	81502	broad.mit.edu	37	chr20	30142623	30142623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggacttggagatgtcGtcattccaggtgagcctgct	6	12	14	9	1	1	2	1	1	0	1	3	4	2	3	2	3	3	2	2	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30142623G>A	ENST00000335574.5	+	8	923	c.799G>A	c.(799-801)Gtc>Atc	p.V267I	HM13_ENST00000492709.1_3'UTR|HM13_ENST00000376127.3_Missense_Mutation_p.V225I|HM13_ENST00000340852.5_Missense_Mutation_p.V267I|HM13_ENST00000398174.3_Missense_Mutation_p.V267I	NM_178580.1	NP_848695.1	Q8TCT9	HM13_HUMAN	histocompatibility (minor) 13	267					membrane protein proteolysis	cell surface|endoplasmic reticulum membrane|integral to membrane|plasma membrane	aspartic-type endopeptidase activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(5;3.44e-05)|Lung NSC(7;4.38e-06)|all_lung(7;7.65e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		all cancers(5;0.000479)|Colorectal(19;0.00202)|COAD - Colon adenocarcinoma(19;0.0264)			TGGAGATGTCGTCATTCCAGG	0.562													A	30142623	G	A	30142623	3	1	364	1	0	0	0	0	1	0	0	0	7272	1145	40	1	896	1	HM13	20	30142623	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27332	30142623	32882897	14199	37701											
TPX2	22974	broad.mit.edu	37	chr20	30365440	30365440	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaaagcatccttcatctcCtgtaagttgatggactaaat	13	12	7	9	1	2	1	1	1	1	0	4	3	3	2	2	1	1	3	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30365440C>A	ENST00000340513.4	+	9	1409	c.881C>A	c.(880-882)cCt>cAt	p.P294H	TPX2_ENST00000300403.6_Splice_Site_p.P294H			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	294					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			CCTTCATCTCCTGTAAGTTGA	0.353													A	30365440	C	A	30365440	5	1	364	1	0	0	0	0	0	0	1	0	16533	695	24	4	907	4	TPX2	20	30365440	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	222817	30365440	32660080	14200	37702											
MYLK2	85366	broad.mit.edu	37	chr20	30414481	30414481	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagctgtatgcagccaTcgagactccgcatgagatcg	10	8	11	12	3	0	2	0	1	0	2	4	5	2	2	3	0	3	4	3	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30414481T>C	ENST00000375994.2	+	6	1319	c.1046T>C	c.(1045-1047)aTc>aCc	p.I349T	MYLK2_ENST00000375985.4_Missense_Mutation_p.I349T			Q9H1R3	MYLK2_HUMAN	myosin light chain kinase 2	349	Protein kinase.				cardiac muscle tissue morphogenesis|regulation of muscle filament sliding		ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			TATGCAGCCATCGAGACTCCG	0.577													C	30414481	T	C	30414481	3	2	364	1	0	0	0	0	1	0	0	0	10133	1435	50	3	1068	3	MYLK2	20	30414481	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	49041	30414481	32611039	14201	37703											
FOXS1	2307	broad.mit.edu	37	chr20	30433195	30433195	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggcggtagaaggcgaatcGgcccatgatgtagcggtaga	10	7	17	7	4	0	3	0	1	0	2	1	4	0	3	1	5	1	3	1	5	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30433195G>A	ENST00000375978.3	-	1	225	c.151C>T	c.(151-153)Cga>Tga	p.R51*		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	51					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						AAGGCGAATCGGCCCATGATG	0.617													A	30433195	G	A	30433195	4	1	364	1	0	0	0	0	0	1	0	0	6086	1124	39	1	845	1	FOXS1	20	30433195	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18714	30433195	32592325	14202	37704											
TM9SF4	9777	broad.mit.edu	37	chr20	30729426	30729426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgacagtggagcagagccGactcgtggccgagcggatca	9	5	15	12	4	1	2	1	1	0	1	2	6	1	4	3	3	3	1	3	3	0	0	rs139891092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30729426G>A	ENST00000217315.5	+	4	645	c.305G>A	c.(304-306)cGa>cAa	p.R102Q	TM9SF4_ENST00000398022.2_Missense_Mutation_p.R119Q			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	119						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GAGCAGAGCCGACTCGTGGCC	0.577													A	30729426	G	A	30729426	3	1	364	1	0	0	0	0	1	0	0	0	16080	1058	37	1	370	1	TM9SF4	20	30729426	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	296231	30729426	32296094	14203	37705											
POFUT1	23509	broad.mit.edu	37	chr20	30822373	30822373	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgtgtctcctccttcaCtgcctttgtgaagcgggagc	6	12	10	13	1	2	1	1	1	1	0	4	2	3	2	3	1	4	0	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30822373C>A	ENST00000375749.3	+	7	1138	c.1076C>A	c.(1075-1077)aCt>aAt	p.T359N	POFUT1_ENST00000539210.1_Missense_Mutation_p.T148N	NM_015352.1	NP_056167.1	Q9H488	OFUT1_HUMAN	protein O-fucosyltransferase 1	359					fucose metabolic process|Notch signaling pathway|O-glycan processing|regulation of transcription, DNA-dependent	endoplasmic reticulum|membrane	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|urinary_tract(1)	6			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCTCCTTCACTGCCTTTGTG	0.607													A	30822373	C	A	30822373	3	1	364	1	0	0	0	0	1	0	0	0	12260	565	20	4	1149	4	POFUT1	20	30822373	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	92947	30822373	32203147	14204	37706											
KIF3B	9371	broad.mit.edu	37	chr20	30898940	30898940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaaaagatggaggacctgCggcgggagaaggatgctgcc	13	4	17	7	2	0	3	0	0	0	3	0	7	0	6	2	5	3	1	2	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30898940C>T	ENST00000375712.3	+	2	1527	c.1360C>T	c.(1360-1362)Cgg>Tgg	p.R454W	KIF3B_ENST00000418717.2_Missense_Mutation_p.R80W	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	454					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGAGGACCTGCGGCGGGAGAA	0.537													T	30898940	C	T	30898940	3	4	364	1	0	0	0	0	1	0	0	0	8359	759	27	1	1362	1	KIF3B	20	30898940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76567	30898940	32126580	14205	37707											
KIF3B	9371	broad.mit.edu	37	chr20	30904663	30904663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcagaatgagctcaccagGgagctgaaactcaagtaagt	15	7	10	9	0	3	3	3	2	0	1	3	4	3	4	1	1	3	3	1	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30904663G>A	ENST00000375712.3	+	5	1901	c.1734G>A	c.(1732-1734)agG>agA	p.R578R	KIF3B_ENST00000418717.2_Silent_p.R204R	NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	578					anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGCTCACCAGGGAGCTGAAAC	0.517													A	30904663	G	A	30904663	2	1	364	1	0	0	0	0	0	0	0	1	8359	1223	43	2		2	KIF3B	20	30904663	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5723	30904663	32120857	14206	37708											
ASXL1	171023	broad.mit.edu	37	chr20	30954259	30954259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatagaggcagaaggactaAaggaaatgaggtttgtattg	15	10	13	3	0	1	3	1	1	0	2	1	5	1	5	0	4	0	3	0	4	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:30954259A>C	ENST00000375687.4	+	2	554	c.130A>C	c.(130-132)Aag>Cag	p.K44Q	ASXL1_ENST00000375689.1_Missense_Mutation_p.K40Q|ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000542461.1_Missense_Mutation_p.K44Q|ASXL1_ENST00000306058.5_Missense_Mutation_p.K40Q	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	44					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						AGAAGGACTAAAGGAAATGAG	0.373			"F, N, Mis"		"MDS, CMML"								C	30954259	A	C	30954259	3	2	364	1	0	0	0	0	1	0	0	0	1071	15	1	5	136	5	ASXL1	20	30954259	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49596	30954259	32071261	14207	37709											
ASXL1	171023	broad.mit.edu	37	chr20	31017711	31017711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgccttcagggttctcGggctgccacgccgatggcga	4	9	15	13	4	2	0	1	0	1	0	3	2	2	0	3	3	2	3	3	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31017711G>A	ENST00000375687.4	+	8	997	c.573G>A	c.(571-573)tcG>tcA	p.S191S	ASXL1_ENST00000470145.1_3'UTR|ASXL1_ENST00000306058.5_Silent_p.S186S	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	191					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CAGGGTTCTCGGGCTGCCACG	0.642			"F, N, Mis"		"MDS, CMML"								A	31017711	G	A	31017711	2	1	364	1	0	0	0	0	0	0	0	1	1071	1103	39	1		1	ASXL1	20	31017711	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63452	31017711	32007809	14208	37710											
ASXL1	171023	broad.mit.edu	37	chr20	31022979	31022979	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtctctagtgggagatgatAcattagagaaaggaactggc	13	10	13	5	0	1	3	0	1	1	2	2	6	1	4	0	3	2	0	0	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31022979A>G	ENST00000375687.4	+	13	2888	c.2464A>G	c.(2464-2466)Aca>Gca	p.T822A	ASXL1_ENST00000306058.5_Missense_Mutation_p.T817A	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	822					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding	p.T822fs*11(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGAGATGATACATTAGAGAA	0.502			"F, N, Mis"		"MDS, CMML"								G	31022979	A	G	31022979	3	3	364	1	0	0	0	0	1	0	0	0	1071	391	14	3	2520	3	ASXL1	20	31022979	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5268	31022979	32002541	14209	37711											
DNMT3B	1789	broad.mit.edu	37	chr20	31386361	31386361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgttacatgtgtctccCgcagcgctgtcatggcgtcc	5	11	12	13	3	2	0	1	0	1	0	4	1	3	0	2	1	3	4	2	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31386361C>T	ENST00000328111.2	+	15	1907	c.1586C>T	c.(1585-1587)cCg>cTg	p.P529L	DNMT3B_ENST00000353855.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000456297.2_Missense_Mutation_p.P433L|DNMT3B_ENST00000443239.3_Missense_Mutation_p.P467L|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P509L|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000348286.2_Missense_Mutation_p.P509L|DNMT3B_ENST00000201963.3_Missense_Mutation_p.P521L	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	529	ADD.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						ATGTGTCTCCCGCAGCGCTGT	0.627													T	31386361	C	T	31386361	3	4	364	1	0	0	0	0	1	0	0	0	4716	652	23	1	1680	1	DNMT3B	20	31386361	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	363382	31386361	31639159	14210	37712											
DNMT3B	1789	broad.mit.edu	37	chr20	31393213	31393213	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatacaataggatagccaaGgtaagacgagctgtggccct	14	7	12	8	1	0	1	0	0	0	1	0	4	0	2	2	3	3	2	2	3	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31393213G>T	ENST00000328111.2	+	21	2622	c.2301G>T	c.(2299-2301)aaG>aaT	p.K767N	DNMT3B_ENST00000353855.2_Splice_Site_p.K747N|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000344505.4_Splice_Site_p.K747N|DNMT3B_ENST00000348286.2_Intron|DNMT3B_ENST00000201963.3_Splice_Site_p.K759N	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	767					negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGATAGCCAAGGTAAGACGAG	0.498													T	31393213	G	T	31393213	5	4	364	1	0	0	0	0	0	0	1	0	4716	1014	35	4	2419	4	DNMT3B	20	31393213	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6852	31393213	31632307	14211	37713											
DNMT3B	1789	broad.mit.edu	37	chr20	31395665	31395665	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcgtgcctgtcatcCgacacctcttcgcccctctg	4	10	9	18	3	3	0	1	0	2	0	5	2	4	1	6	1	2	0	6	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:31395665C>T	ENST00000328111.2	+	23	2839	c.2518C>T	c.(2518-2520)Cga>Tga	p.R840*	DNMT3B_ENST00000353855.2_Nonsense_Mutation_p.R820*|DNMT3B_ENST00000456297.2_Nonsense_Mutation_p.R681*|DNMT3B_ENST00000443239.3_Nonsense_Mutation_p.R715*|DNMT3B_ENST00000344505.4_Missense_Mutation_p.P780L|DNMT3B_ENST00000348286.2_Nonsense_Mutation_p.R757*|DNMT3B_ENST00000201963.3_Nonsense_Mutation_p.R832*	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	840			R -> Q (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCCTGTCATCCGACACCTCTT	0.602													T	31395665	C	T	31395665	4	4	364	1	0	0	0	0	0	1	0	0	4716	644	23	1	2644	1	DNMT3B	20	31395665	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2452	31395665	31629855	14212	37714											
CBFA2T2	9139	broad.mit.edu	37	chr20	32232249	32232249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagcacaaggactgggagCggcaccaccgcctctgtggt	8	5	14	14	2	1	0	0	0	1	0	1	2	1	2	4	4	2	2	4	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32232249C>T	ENST00000492345.1	+	13	2210	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W	CBFA2T2_ENST00000346541.3_Missense_Mutation_p.R538W|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.R509W|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.R548W|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.R529W|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.R538W|CBFA2T2_ENST00000543126.1_Missense_Mutation_p.R86W			O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	538						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						GGACTGGGAGCGGCACCACCG	0.652													T	32232249	C	T	32232249	3	4	364	1	0	0	0	0	1	0	0	0	2723	759	27	1	1692	1	CBFA2T2	20	32232249	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	836584	32232249	30793271	14213	37715											
E2F1	1869	broad.mit.edu	37	chr20	32264576	32264576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtccccaaagtcacagtCgaagaggtctctgatgccct	10	8	11	12	1	2	2	1	1	1	1	5	4	3	2	3	2	1	0	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32264576C>T	ENST00000343380.5	-	7	1415	c.1276G>A	c.(1276-1278)Gac>Aac	p.D426N		NM_005225.2	NP_005216.1	Q01094	E2F1_HUMAN	E2F transcription factor 1	426	Retinoblastoma protein RB1 binding (Potential).|Transactivation.				apoptosis|cell proliferation|G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|mRNA stabilization|negative regulation of transcription involved in G1/S phase of mitotic cell cycle|positive regulation of fibroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle	mitochondrion|Rb-E2F complex	sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding			NS(2)|breast(1)|endometrium(3)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	16						AAGTCACAGTCGAAGAGGTCT	0.627													T	32264576	C	T	32264576	3	4	364	1	0	0	0	0	1	0	0	0	4905	884	31	1	41	1	E2F1	20	32264576	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32327	32264576	30760944	14214	37716											
ZNF341	84905	broad.mit.edu	37	chr20	32379026	32379026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcagccccccgcagttgCggcagtggtgggcgcaaggt	6	5	18	12	3	0	0	0	0	0	0	0	0	0	0	3	5	2	5	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32379026C>T	ENST00000375200.1	+	15	2633	c.2268C>T	c.(2266-2268)tgC>tgT	p.C756C	RP4-553F4.6_ENST00000439444.1_RNA|RP4-553F4.6_ENST00000443171.1_RNA|RP4-553F4.6_ENST00000423074.1_RNA|ZNF341_ENST00000342427.2_Silent_p.C749C	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	756					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CCCGCAGTTGCGGCAGTGGTG	0.682													T	32379026	C	T	32379026	2	4	364	1	0	0	0	0	0	0	0	1	17958	776	27	1		1	ZNF341	20	32379026	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	114450	32379026	30646494	14215	37717											
RALY	22913	broad.mit.edu	37	chr20	32664552	32664552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagacggagctgacacagAtcaagtccaatatcgatgcc	14	7	9	11	2	2	3	2	1	0	2	4	5	3	4	2	1	2	1	2	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:32664552A>G	ENST00000375114.3	+	6	1119	c.541A>G	c.(541-543)Atc>Gtc	p.I181V	RALY_ENST00000246194.3_Missense_Mutation_p.I197V|RALY_ENST00000493399.1_3'UTR	NM_007367.3	NP_031393.2	Q9UKM9	RALY_HUMAN	RALY heterogeneous nuclear ribonucleoprotein	197						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex	nucleotide binding|RNA binding			kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12						GCTGACACAGATCAAGTCCAA	0.587													G	32664552	A	G	32664552	3	3	364	1	0	0	0	0	1	0	0	0	13107	333	12	3	607	3	RALY	20	32664552	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	285526	32664552	30360968	14216	37718											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147655	33147655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggagaaagacgaggacGgcttcctctatatggtctac	12	8	12	9	2	2	2	0	0	2	2	3	5	3	3	1	4	2	2	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147655G>A	ENST00000360668.3	+	4	1080	c.319G>A	c.(319-321)Ggc>Agc	p.G107S	MAP1LC3A_ENST00000374837.3_Missense_Mutation_p.G111S|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Missense_Mutation_p.G107S			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	107					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						AGACGAGGACGGCTTCCTCTA	0.637													A	33147655	G	A	33147655	3	1	364	1	0	0	0	0	1	0	0	0	9305	1116	39	1	389	1	MAP1LC3A	20	33147655	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	483103	33147655	29877865	14217	37719											
MAP1LC3A	84557	broad.mit.edu	37	chr20	33147675	33147675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttcctctatatggtctaCgcctcccaggaaaccttcgg	7	11	9	14	2	2	0	0	0	2	0	5	1	4	1	4	4	2	1	4	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33147675C>T	ENST00000360668.3	+	4	1100	c.339C>T	c.(337-339)taC>taT	p.Y113Y	MAP1LC3A_ENST00000374837.3_Silent_p.Y117Y|MAP1LC3A_ENST00000476428.1_3'UTR|MAP1LC3A_ENST00000397709.1_Silent_p.Y113Y			Q9H492	MLP3A_HUMAN	microtubule-associated protein 1 light chain 3 alpha	113					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|cytosol|endomembrane system|microtubule	phosphatidylethanolamine binding|protein binding			cervix(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(2)	5						ATATGGTCTACGCCTCCCAGG	0.637													T	33147675	C	T	33147675	2	4	364	1	0	0	0	0	0	0	0	1	9305	547	19	1		1	MAP1LC3A	20	33147675	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	33147675	29877845	14218	37720											
NCOA6	23054	broad.mit.edu	37	chr20	33337721	33337721	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcctgacatctgtccCgtaaactgcaccatatttcc	9	13	5	14	1	2	1	0	1	2	0	5	1	5	1	4	0	2	2	4	0	3	3	rs149855221	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33337721C>T	ENST00000374796.2	-	10	4847	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	NCOA6_ENST00000359003.2_Silent_p.T759T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	759	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						ACATCTGTCCCGTAAACTGCA	0.542													T	33337721	C	T	33337721	2	4	364	1	0	0	0	0	0	0	0	1	10309	639	23	1		1	NCOA6	20	33337721	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190046	33337721	29687799	14219	37721											
NCOA6	23054	broad.mit.edu	37	chr20	33342588	33342588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaattcccaggggtggttgCtgtggtcgaaggcacctgac	7	10	15	9	1	0	2	0	2	0	0	2	3	1	2	2	5	1	3	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33342588C>T	ENST00000374796.2	-	9	4182	c.1612G>A	c.(1612-1614)Gca>Aca	p.A538T	NCOA6_ENST00000359003.2_Missense_Mutation_p.A538T			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	538	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						GGGGTGGTTGCTGTGGTCGAA	0.483													T	33342588	C	T	33342588	3	4	364	1	0	0	0	0	1	0	0	0	10309	797	28	2	4611	2	NCOA6	20	33342588	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4867	33342588	29682932	14220	37722											
GGT7	2686	broad.mit.edu	37	chr20	33449298	33449298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccctgagggcccctggtgCggactcccggaaatcaatta	8	9	11	13	2	1	1	1	1	0	0	3	3	3	3	4	4	1	0	4	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33449298C>T	ENST00000336431.5	-	4	669	c.625G>A	c.(625-627)Gca>Aca	p.A209T		NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	209					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						GCCCCTGGTGCGGACTCCCGG	0.562													T	33449298	C	T	33449298	3	4	364	1	0	0	0	0	1	0	0	0	6420	768	27	1	1411	1	GGT7	20	33449298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	106710	33449298	29576222	14221	37723											
ACSS2	55902	broad.mit.edu	37	chr20	33501898	33501898	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtctgttgctccccaaaGatgccttctacaggggggaa	10	10	11	10	0	2	1	0	0	2	1	3	2	3	2	3	3	3	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501898G>A	ENST00000360596.2	+	6	854		c.e6-1		ACSS2_ENST00000253382.5_Splice_Site|ACSS2_ENST00000336325.4_Splice_Site|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2						ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GCTCCCCAAAGATGCCTTCTA	0.542													A	33501898	G	A	33501898	5	1	364	1	0	0	0	0	0	0	1	0	189	956	33	2	665	2	ACSS2	20	33501898	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52600	33501898	29523622	14222	37724											
ACSS2	55902	broad.mit.edu	37	chr20	33501965	33501965	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgaggccctgcagaagtGtcaggagaagtaagtgtgtt	11	9	15	6	1	1	3	1	1	0	2	1	5	1	3	1	2	1	3	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33501965G>A	ENST00000360596.2	+	6	921	c.710G>A	c.(709-711)tGt>tAt	p.C237Y	ACSS2_ENST00000253382.5_Missense_Mutation_p.C237Y|ACSS2_ENST00000336325.4_Missense_Mutation_p.C187Y|ACSS2_ENST00000476922.1_Intron	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	237					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTGCAGAAGTGTCAGGAGAAG	0.532													A	33501965	G	A	33501965	3	1	364	1	0	0	0	0	1	0	0	0	189	1377	48	2	732	2	ACSS2	20	33501965	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	33501965	29523555	14223	37725											
ACSS2	55902	broad.mit.edu	37	chr20	33511157	33511157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctggccagggatcatgcGcacagtctatgggaaccacg	9	6	13	13	2	2	0	1	0	1	0	2	2	2	2	3	3	2	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33511157G>A	ENST00000360596.2	+	14	1791	c.1580G>A	c.(1579-1581)cGc>cAc	p.R527H	ACSS2_ENST00000253382.5_Missense_Mutation_p.R540H|ACSS2_ENST00000336325.4_Missense_Mutation_p.R477H|ACSS2_ENST00000476922.1_3'UTR	NM_018677.3	NP_061147.1	Q9NR19	ACSA_HUMAN	acyl-CoA synthetase short-chain family member 2	527					ethanol oxidation|lipid biosynthetic process|xenobiotic metabolic process	cytosol|nucleus	acetate-CoA ligase activity|ATP binding|protein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(9)	21					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGATCATGCGCACAGTCTAT	0.483													A	33511157	G	A	33511157	3	1	364	1	0	0	0	0	1	0	0	0	189	1087	38	1	1677	1	ACSS2	20	33511157	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9192	33511157	29514363	14224	37726											
MYH7B	57644	broad.mit.edu	37	chr20	33568472	33568472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcttacaagggaaagcGccgctcagattccccgcccc	8	6	11	16	3	1	1	1	0	0	1	2	2	2	2	5	2	3	3	5	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568472G>A	ENST00000262873.7	+	6	652	c.560G>A	c.(559-561)cGc>cAc	p.R187H	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	145	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAGGGAAAGCGCCGCTCAGAT	0.582													A	33568472	G	A	33568472	3	1	364	1	0	0	0	0	1	0	0	0	10116	1087	38	1	582	1	MYH7B	20	33568472	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57315	33568472	29457048	14225	37727											
MYH7B	57644	broad.mit.edu	37	chr20	33568531	33568531	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaacgcctacaacgacatgCtgcgcagtaagggccgcctg	11	5	11	14	4	0	0	0	0	0	0	0	1	0	0	3	1	5	3	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33568531C>A	ENST00000262873.7	+	6	711	c.619C>A	c.(619-621)Ctg>Atg	p.L207M	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	165	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAACGACATGCTGCGCAGTAA	0.642													A	33568531	C	A	33568531	3	1	364	1	0	0	0	0	1	0	0	0	10116	796	28	4	641	4	MYH7B	20	33568531	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59	33568531	29456989	14226	37728											
MYH7B	57644	broad.mit.edu	37	chr20	33575077	33575077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggaggagcaggcggaggcCgatggcactgagagtgaggg	9	3	22	7	3	0	2	0	2	0	1	0	7	0	5	1	7	1	2	1	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33575077C>T	ENST00000262873.7	+	14	1352	c.1260C>T	c.(1258-1260)gcC>gcT	p.A420A		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	378	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGGCGGAGGCCGATGGCACTG	0.562													T	33575077	C	T	33575077	2	4	364	1	0	0	0	0	0	0	0	1	10116	639	23	1		1	MYH7B	20	33575077	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6546	33575077	29450443	14227	37729											
MYH7B	57644	broad.mit.edu	37	chr20	33584474	33584474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacacggagcgggccaagcGcaagctggagggtgacctga	10	3	18	10	3	0	2	0	2	0	0	0	5	0	5	2	5	3	2	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33584474G>A	ENST00000262873.7	+	28	3397	c.3305G>A	c.(3304-3306)cGc>cAc	p.R1102H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1060						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGGGCCAAGCGCAAGCTGGAG	0.617													A	33584474	G	A	33584474	3	1	364	1	0	0	0	0	1	0	0	0	10116	1087	38	1	3415	1	MYH7B	20	33584474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9397	33584474	29441046	14228	37730											
MYH7B	57644	broad.mit.edu	37	chr20	33586624	33586624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccaggctgagctgcagCggctgctgtccaaggccaat	8	6	14	13	1	0	1	0	1	0	0	1	1	1	1	3	4	4	5	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33586624C>T	ENST00000262873.7	+	33	4314	c.4222C>T	c.(4222-4224)Cgg>Tgg	p.R1408W		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1366						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			TGAGCTGCAGCGGCTGCTGTC	0.657													T	33586624	C	T	33586624	3	4	364	1	0	0	0	0	1	0	0	0	10116	759	27	1	4352	1	MYH7B	20	33586624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2150	33586624	29438896	14229	37731											
TRPC4AP	26133	broad.mit.edu	37	chr20	33632378	33632378	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcatttttggcaagaagCgtgtgcttgtcatcattccc	8	14	10	9	1	2	2	2	1	0	1	3	2	3	2	1	1	3	3	1	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33632378C>T	ENST00000252015.2	-	7	884	c.795G>A	c.(793-795)acG>acA	p.T265T	TRPC4AP_ENST00000432634.2_Silent_p.T226T|TRPC4AP_ENST00000451813.2_Silent_p.T265T			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	265	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGGCAAGAAGCGTGTGCTTGT	0.448													T	33632378	C	T	33632378	2	4	364	1	0	0	0	0	0	0	0	1	16682	755	27	1		1	TRPC4AP	20	33632378	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45754	33632378	29393142	14230	37732											
TRPC4AP	26133	broad.mit.edu	37	chr20	33637791	33637791	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccaaacgctttgtaactcCctctgtctgtcacaagaaga	11	11	7	12	1	3	2	1	0	2	2	4	2	4	2	2	0	3	2	2	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33637791C>A	ENST00000252015.2	-	6	624	c.535G>T	c.(535-537)Gga>Tga	p.G179*	TRPC4AP_ENST00000432634.2_Nonsense_Mutation_p.G140*|TRPC4AP_ENST00000451813.2_Nonsense_Mutation_p.G179*			Q8TEL6	TP4AP_HUMAN	transient receptor potential cation channel, subfamily C, member 4 associated protein	179	Interaction with TNFRSF1A (By similarity).				protein ubiquitination|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|skin(1)|stomach(1)|urinary_tract(1)	32			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TTTGTAACTCCCTCTGTCTGT	0.368													A	33637791	C	A	33637791	4	1	364	1	0	0	0	0	0	1	0	0	16682	632	22	4	1914	4	TRPC4AP	20	33637791	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5413	33637791	29387729	14231	37733											
EDEM2	55741	broad.mit.edu	37	chr20	33703440	33703440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttctgaaatttcgacctGctccgtttgagagagtagaa	10	15	9	7	2	1	4	0	2	1	2	3	6	2	4	2	0	1	3	2	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33703440G>A	ENST00000374492.3	-	11	1638	c.1533C>T	c.(1531-1533)agC>agT	p.S511S	EDEM2_ENST00000374491.3_Silent_p.S474S|EDEM2_ENST00000542871.1_Silent_p.S235S|EDEM2_ENST00000541621.1_Silent_p.S290S	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	511				S -> C (in Ref. 1; BAA91806).	post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			ATTTCGACCTGCTCCGTTTGA	0.552													A	33703440	G	A	33703440	2	1	364	1	0	0	0	0	0	0	0	1	4951	1310	46	2		2	EDEM2	20	33703440	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65649	33703440	29322080	14232	37734											
MMP24	10893	broad.mit.edu	37	chr20	33839824	33839824	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaaaacacatcacctacaGgtgcttcgactctccctctt	11	10	5	15	1	3	0	1	0	2	0	5	1	3	0	2	1	3	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33839824G>T	ENST00000246186.6	+	3	597	c.512G>T	c.(511-513)aGc>aTc	p.S171I	MMP24-AS1_ENST00000433764.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000456350.1_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	171					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			ATCACCTACAGGTGCTTCGAC	0.562													T	33839824	G	T	33839824	5	4	364	1	0	0	0	0	0	0	1	0	9737	1014	35	4	272	4	MMP24	20	33839824	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136384	33839824	29185696	14233	37735											
FAM83C	128876	broad.mit.edu	37	chr20	33875125	33875125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccactgtctccagggttgtgCcaggtacccatcgaccccgc	6	8	10	17	2	1	0	0	0	1	0	3	1	1	0	6	2	2	2	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:33875125C>T	ENST00000374408.3	-	4	1553	c.1457G>A	c.(1456-1458)gGc>gAc	p.G486D		NM_178468.5	NP_848563.1	Q9BQN1	FA83C_HUMAN	family with sequence similarity 83, member C	486										central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CAGGGTTGTGCCAGGTACCCA	0.632													T	33875125	C	T	33875125	3	4	364	1	0	0	0	0	1	0	0	0	5685	739	26	2	790	2	FAM83C	20	33875125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	35301	33875125	29150395	14234	37736											
GDF5	8200	broad.mit.edu	37	chr20	34021926	34021926	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaactcgcacagcccctcGcagtggaaagcctcgtactc	9	6	11	15	3	0	0	0	0	0	0	4	2	0	2	3	2	4	3	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34021926G>A	ENST00000374372.1	-	4	1790	c.1287C>T	c.(1285-1287)tgC>tgT	p.C429C	GDF5OS_ENST00000374375.1_5'UTR|GDF5_ENST00000374369.3_Silent_p.C429C			P43026	GDF5_HUMAN	growth differentiation factor 5	429					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			ACAGCCCCTCGCAGTGGAAAG	0.587													A	34021926	G	A	34021926	2	1	364	1	0	0	0	0	0	0	0	1	6372	1079	38	1		1	GDF5	20	34021926	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	146801	34021926	29003594	14235	37737											
GDF5	8200	broad.mit.edu	37	chr20	34022013	34022013	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgcagtgccttccgactGcagcgagccttaaggttctt	8	11	10	12	2	1	0	0	0	1	0	2	2	2	0	3	1	5	3	3	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34022013G>A	ENST00000374372.1	-	4	1703	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	GDF5OS_ENST00000374375.1_Silent_p.L19L|GDF5_ENST00000374369.3_Silent_p.C400C			P43026	GDF5_HUMAN	growth differentiation factor 5	400			C -> Y (in AMDG).		cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CCTTCCGACTGCAGCGAGCCT	0.612													A	34022013	G	A	34022013	2	1	364	1	0	0	0	0	0	0	0	1	6372	1311	46	2		2	GDF5	20	34022013	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	87	34022013	29003507	14236	37738											
GDF5	8200	broad.mit.edu	37	chr20	34025186	34025186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcgtcctgtacagcgAgagcatgtactcgtggggtg	8	8	16	9	3	0	1	0	0	0	1	2	3	1	2	1	3	5	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34025186A>G	ENST00000374372.1	-	3	1026	c.523T>C	c.(523-525)Tcg>Ccg	p.S175P	GDF5_ENST00000374369.3_Missense_Mutation_p.S175P			P43026	GDF5_HUMAN	growth differentiation factor 5	175					cartilage development|cell-cell signaling|growth|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			CTGTACAGCGAGAGCATGTAC	0.612													G	34025186	A	G	34025186	3	3	364	1	0	0	0	0	1	0	0	0	6372	304	11	3	990	3	GDF5	20	34025186	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3173	34025186	29000334	14237	37739											
CEP250	11190	broad.mit.edu	37	chr20	34091114	34091114	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtctcagcgagaacagatCgaggagctgcagaggcagaa	15	4	14	8	2	1	4	1	0	1	4	3	7	1	5	0	2	4	3	0	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34091114C>T	ENST00000397527.1	+	30	5637	c.4917C>T	c.(4915-4917)atC>atT	p.I1639I	CEP250_ENST00000342580.4_Silent_p.I1583I	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1639	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			GAGAACAGATCGAGGAGCTGC	0.562													T	34091114	C	T	34091114	2	4	364	1	0	0	0	0	0	0	0	1	3282	874	31	1		1	CEP250	20	34091114	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65928	34091114	28934406	14238	37740											
CEP250	11190	broad.mit.edu	37	chr20	34092805	34092805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacaagcctctgtcctggAgcgggactcagaacagcaaa	12	6	10	13	1	2	1	1	0	1	1	3	3	3	3	3	2	5	1	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34092805A>G	ENST00000397527.1	+	30	7328	c.6608A>G	c.(6607-6609)gAg>gGg	p.E2203G	CEP250_ENST00000342580.4_Missense_Mutation_p.E2147G	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2203					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TCTGTCCTGGAGCGGGACTCA	0.607													G	34092805	A	G	34092805	3	3	364	1	0	0	0	0	1	0	0	0	3282	304	11	3	6714	3	CEP250	20	34092805	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1691	34092805	28932715	14239	37741											
CEP250	11190	broad.mit.edu	37	chr20	34099322	34099322	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acactcacttcttgccgtggCccaggcccctgaggccactg	6	8	10	17	1	2	1	1	1	1	0	2	1	2	1	5	3	1	0	5	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34099322C>T	ENST00000397527.1	+	35	7916	c.7196C>T	c.(7195-7197)gCc>gTc	p.A2399V	CEP250_ENST00000342580.4_Missense_Mutation_p.A2343V	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	2399					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			CTTGCCGTGGCCCAGGCCCCT	0.632													T	34099322	C	T	34099322	3	4	364	1	0	0	0	0	1	0	0	0	3282	739	26	2	7322	2	CEP250	20	34099322	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6517	34099322	28926198	14240	37742											
ERGIC3	51614	broad.mit.edu	37	chr20	34143831	34143831	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccactacatccagcacCtgtcatttggggaggactat	10	10	9	12	0	1	1	1	1	0	0	2	3	2	3	3	3	2	1	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34143831C>A	ENST00000348547.2	+	9	822	c.745C>A	c.(745-747)Ctg>Atg	p.L249M	ERGIC3_ENST00000447986.1_Missense_Mutation_p.L264M|ERGIC3_ENST00000482338.1_3'UTR|ERGIC3_ENST00000357394.4_Missense_Mutation_p.L254M|ERGIC3_ENST00000279052.6_Missense_Mutation_p.L254M	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	249					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			CATCCAGCACCTGTCATTTGG	0.572													A	34143831	C	A	34143831	3	1	364	1	0	0	0	0	1	0	0	0	5266	680	24	4	798	4	ERGIC3	20	34143831	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	44509	34143831	28881689	14241	37743											
ERGIC3	51614	broad.mit.edu	37	chr20	34144848	34144848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcctctatgagctctcGcccatgatggtgaagctgac	7	12	10	12	2	2	4	0	4	2	0	5	4	3	4	2	1	2	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34144848G>A	ENST00000348547.2	+	11	1061	c.984G>A	c.(982-984)tcG>tcA	p.S328S	ERGIC3_ENST00000447986.1_Silent_p.S343S|ERGIC3_ENST00000357394.4_Silent_p.S333S|ERGIC3_ENST00000279052.6_Silent_p.S333S	NM_015966.2	NP_057050.1	Q9Y282	ERGI3_HUMAN	ERGIC and golgi 3	328					vesicle-mediated transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi apparatus|integral to membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)	16	Lung NSC(9;0.00489)|all_lung(11;0.00729)		BRCA - Breast invasive adenocarcinoma(18;0.0127)			ATGAGCTCTCGCCCATGATGG	0.602													A	34144848	G	A	34144848	2	1	364	1	0	0	0	0	0	0	0	1	5266	1074	38	1		1	ERGIC3	20	34144848	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1017	34144848	28880672	14242	37744											
NFS1	9054	broad.mit.edu	37	chr20	34263069	34263069	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctgcccccctccactCtgcagggcctccacacgcac	5	6	7	23	2	1	0	0	0	1	0	4	0	4	0	7	1	2	3	7	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34263069C>A	ENST00000374092.4	-	8	916	c.846G>T	c.(844-846)caG>caT	p.Q282H	NFS1_ENST00000397425.1_Missense_Mutation_p.Q222H|NFS1_ENST00000374085.1_Missense_Mutation_p.Q222H|NFS1_ENST00000541387.1_Missense_Mutation_p.Q231H|NFS1_ENST00000540053.1_Missense_Mutation_p.Q80H	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	282					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	CCCCTCCACTCTGCAGGGCCT	0.592													A	34263069	C	A	34263069	3	1	364	1	0	0	0	0	1	0	0	0	10461	912	32	4	551	4	NFS1	20	34263069	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	118221	34263069	28762451	14243	37745											
NFS1	9054	broad.mit.edu	37	chr20	34284379	34284379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccaatcagagatgctaCttgctgcaagccaagaaaca	15	7	8	11	0	1	2	1	0	0	2	2	3	2	2	2	0	7	4	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34284379C>A	ENST00000374092.4	-	4	398	c.328G>T	c.(328-330)Gta>Tta	p.V110L	NFS1_ENST00000397425.1_Missense_Mutation_p.V50L|NFS1_ENST00000306750.3_Missense_Mutation_p.V110L|NFS1_ENST00000374085.1_Missense_Mutation_p.V50L|NFS1_ENST00000541387.1_Missense_Mutation_p.V110L|NFS1_ENST00000540053.1_5'UTR	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	110					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	AGAGATGCTACTTGCTGCAAG	0.463													A	34284379	C	A	34284379	3	1	364	1	0	0	0	0	1	0	0	0	10461	565	20	4	1085	4	NFS1	20	34284379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21310	34284379	28741141	14244	37746											
NFS1	9054	broad.mit.edu	37	chr20	34285617	34285617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtactaacctgacgagcacGttccatggctgcctcactct	8	11	8	14	2	2	1	1	1	1	0	3	2	3	1	3	1	4	4	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34285617G>A	ENST00000374092.4	-	3	383	c.313C>T	c.(313-315)Cgt>Tgt	p.R105C	NFS1_ENST00000397425.1_Missense_Mutation_p.R45C|NFS1_ENST00000306750.3_Missense_Mutation_p.R105C|NFS1_ENST00000374085.1_Missense_Mutation_p.R45C|NFS1_ENST00000541387.1_Missense_Mutation_p.R105C|NFS1_ENST00000540053.1_De_novo_Start_InFrame	NM_021100.4	NP_066923.3	Q9Y697	NFS1_HUMAN	NFS1 cysteine desulfurase	105					cysteine metabolic process|iron incorporation into metallo-sulfur cluster|Mo-molybdopterin cofactor biosynthetic process|protein complex assembly|water-soluble vitamin metabolic process	cytosol|mitochondrial matrix|nucleus	cysteine desulfurase activity|protein homodimerization activity|pyridoxal phosphate binding			central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	18	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.0886)		L-Alanine(DB00160)|L-Cysteine(DB00151)|Pyridoxal Phosphate(DB00114)	TGACGAGCACGTTCCATGGCT	0.542													A	34285617	G	A	34285617	3	1	364	1	0	0	0	0	1	0	0	0	10461	1145	40	1	1104	1	NFS1	20	34285617	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1238	34285617	28739903	14245	37747											
ROMO1	140823	broad.mit.edu	37	chr20	34288814	34288814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cattcatggccattgggatgGgcatccgatgctaaccatgg	9	10	12	10	1	1	0	1	0	0	0	2	2	2	1	3	4	2	2	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34288814G>T	ENST00000374078.1	+	3	406	c.226G>T	c.(226-228)Ggc>Tgc	p.G76C	ROMO1_ENST00000336695.4_Missense_Mutation_p.G76C|ROMO1_ENST00000374077.3_Missense_Mutation_p.G76C|ROMO1_ENST00000374072.1_3'UTR|ROMO1_ENST00000397416.1_Missense_Mutation_p.G76C	NM_080748.2	NP_542786.1	P60602	ROMO1_HUMAN	reactive oxygen species modulator 1	76					cellular response to reactive oxygen species|positive regulation of cell proliferation|positive regulation of reactive oxygen species metabolic process|replicative cell aging	integral to membrane|mitochondrial membrane				cervix(1)	1						CATTGGGATGGGCATCCGATG	0.522													T	34288814	G	T	34288814	3	4	364	1	0	0	0	0	1	0	0	0	13613	1232	43	4	232	4	ROMO1	20	34288814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3197	34288814	28736706	14246	37748											
RBM39	9584	broad.mit.edu	37	chr20	34319989	34319989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctttctctgtctctacttCgcttccgttccttacttttg	2	21	4	14	2	2	0	0	0	2	0	8	0	5	0	3	0	2	2	3	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34319989C>T	ENST00000361162.6	-	4	554	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	RBM39_ENST00000407261.4_5'UTR|RBM39_ENST00000253363.6_Missense_Mutation_p.R57Q|RBM39_ENST00000528062.3_Missense_Mutation_p.R57Q	NM_004902.3|NM_184234.2	NP_004893.1|NP_909122.1	Q14498	RBM39_HUMAN	RNA binding motif protein 39	57	Arg/Ser-rich (RS domain).				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	centrosome|nuclear speck	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					GTCTCTACTTCGCTTCCGTTC	0.443													T	34319989	C	T	34319989	3	4	364	1	0	0	0	0	1	0	0	0	13221	884	31	1	1478	1	RBM39	20	34319989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31175	34319989	28705531	14247	37749											
PHF20	51230	broad.mit.edu	37	chr20	34446286	34446286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacatattcatgtcaaaGctttttccaaagatcaggtg	14	13	6	8	0	4	1	4	0	0	1	5	1	5	1	1	1	2	1	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34446286G>A	ENST00000374012.3	+	5	532	c.403G>A	c.(403-405)Gct>Act	p.A135T	PHF20_ENST00000481202.1_Intron|PHF20_ENST00000439301.1_Missense_Mutation_p.A135T			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	135					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					TCATGTCAAAGCTTTTTCCAA	0.303													A	34446286	G	A	34446286	3	1	364	1	0	0	0	0	1	0	0	0	11908	971	34	2	417	2	PHF20	20	34446286	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126297	34446286	28579234	14248	37750											
PHF20	51230	broad.mit.edu	37	chr20	34451299	34451299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaaaagaaaacgaggcaGacccccttccatagctccta	15	5	6	15	1	0	2	0	0	0	2	2	3	2	2	5	1	2	2	5	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:34451299G>T	ENST00000374012.3	+	6	914	c.785G>T	c.(784-786)aGa>aTa	p.R262I	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_Missense_Mutation_p.Q240H			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	262					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAACGAGGCAGACCCCCTTCC	0.448													T	34451299	G	T	34451299	3	4	364	1	0	0	0	0	1	0	0	0	11908	942	33	4	803	4	PHF20	20	34451299	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5013	34451299	28574221	14249	37751											
DLGAP4	22839	broad.mit.edu	37	chr20	35155232	35155232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaggaagagaagaaaccacCccctccggtcccaaagaagc	17	2	9	13	1	0	3	0	0	0	3	2	5	2	4	5	2	2	0	5	2	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35155232C>T	ENST00000373913.3	+	13	3248	c.2768C>T	c.(2767-2769)cCc>cTc	p.P923L	RP5-977B1.7_ENST00000425233.1_RNA|DLGAP4_ENST00000475894.1_3'UTR|DLGAP4_ENST00000339266.5_Missense_Mutation_p.P926L|DLGAP4_ENST00000340491.4_Missense_Mutation_p.P387L|DLGAP4_ENST00000401952.2_Missense_Mutation_p.P923L|DLGAP4_ENST00000373907.2_Missense_Mutation_p.P926L|RP5-977B1.7_ENST00000439595.1_RNA			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	926					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AAGAAACCACCCCCTCCGGTC	0.562													T	35155232	C	T	35155232	3	4	364	1	0	0	0	0	1	0	0	0	4601	623	22	2	2938	2	DLGAP4	20	35155232	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	703933	35155232	27870288	14250	37752											
SLA2	84174	broad.mit.edu	37	chr20	35262913	35262913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagacgatggtcaatggCtccccgagtctcagcgacag	10	7	12	12	3	3	1	3	0	1	1	5	5	4	1	2	2	1	1	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35262913C>T	ENST00000262866.4	-	3	593	c.171G>A	c.(169-171)gaG>gaA	p.E57E	SLA2_ENST00000360672.2_Silent_p.E57E	NM_032214.3|NM_175077.2	NP_115590.1|NP_778252.1	Q9H6Q3	SLAP2_HUMAN	Src-like-adaptor 2	57	SH3.				antigen receptor-mediated signaling pathway|B cell mediated immunity|intracellular receptor mediated signaling pathway|negative regulation of B cell activation|negative regulation of calcium-mediated signaling|negative regulation of transcription from RNA polymerase II promoter|T cell activation	cytoplasmic membrane-bounded vesicle|endosome membrane|plasma membrane	protein N-terminus binding|SH3/SH2 adaptor activity			endometrium(1)|lung(2)|skin(2)	5	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				TGGTCAATGGCTCCCCGAGTC	0.582													T	35262913	C	T	35262913	2	4	364	1	0	0	0	0	0	0	0	1	14458	796	28	2		2	SLA2	20	35262913	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	107681	35262913	27762607	14251	37753											
NDRG3	57446	broad.mit.edu	37	chr20	35335406	35335406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtcctggaagtttcttgtaCcattctgtcaacagaagaca	12	12	8	9	0	3	2	1	0	2	2	4	3	4	3	2	1	2	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35335406C>T	ENST00000373803.2	-	3	118	c.62G>A	c.(61-63)gGt>gAt	p.G21D	NDRG3_ENST00000373773.3_Missense_Mutation_p.V2I|NDRG3_ENST00000349004.1_Missense_Mutation_p.G21D|NDRG3_ENST00000359675.2_Intron|NDRG3_ENST00000540765.1_Intron			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	21					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				GTTTCTTGTACCATTCTGTCA	0.478													T	35335406	C	T	35335406	3	4	364	1	0	0	0	0	1	0	0	0	10329	507	18	2	1121	2	NDRG3	20	35335406	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	72493	35335406	27690114	14252	37754											
SAMHD1	25939	broad.mit.edu	37	chr20	35559184	35559184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatcatgacaaagtccagCaatctgaacacagagaacat	18	6	8	9	0	2	4	1	2	1	2	3	6	3	4	1	0	3	1	1	0	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35559184C>T	ENST00000262878.4	-	5	803	c.604G>A	c.(604-606)Gct>Act	p.A202T	SAMHD1_ENST00000373694.5_5'UTR	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	202	HD.				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				CAAAGTCCAGCAATCTGAACA	0.413													T	35559184	C	T	35559184	3	4	364	1	0	0	0	0	1	0	0	0	13919	710	25	2	1324	2	SAMHD1	20	35559184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	223778	35559184	27466336	14253	37755											
SAMHD1	25939	broad.mit.edu	37	chr20	35575193	35575193	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacaaggcagtaatgcgcCtgtgatttcattttctatgg	11	13	10	7	1	2	2	1	1	1	1	2	2	2	2	1	2	1	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35575193C>A	ENST00000373694.5	-	0	287				SAMHD1_ENST00000262878.4_Missense_Mutation_p.G75C			Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1						defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AGTAATGCGCCTGTGATTTCA	0.323													A	35575193	C	A	35575193	1	1	364	1	0	0	0	0	0	0	0	0	13919	681	24	4		4	SAMHD1	20	35575193	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16009	35575193	27450327	14254	37756											
RBL1	5933	broad.mit.edu	37	chr20	35627269	35627269	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatcactatcgatggCtattactcgcttcttggttc	6	17	7	11	2	3	0	1	0	2	0	6	1	3	0	0	2	2	4	0	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35627269C>A	ENST00000373664.3	-	22	3166	c.3100G>T	c.(3100-3102)Gcc>Tcc	p.A1034S		NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	1034					cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTATCGATGGCTATTACTCGC	0.423													A	35627269	C	A	35627269	3	1	364	1	0	0	0	0	1	0	0	0	13197	797	28	4	110	4	RBL1	20	35627269	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52076	35627269	27398251	14255	37757											
RBL1	5933	broad.mit.edu	37	chr20	35661096	35661096	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatagtgctaaggacccaGttctctttggcctgtttatt	10	15	8	8	0	1	0	0	0	1	0	2	1	1	1	2	2	1	3	2	2	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35661096G>T	ENST00000373664.3	-	16	2420	c.2354C>A	c.(2353-2355)aCt>aAt	p.T785N	RBL1_ENST00000344359.3_Missense_Mutation_p.T785N	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	785	Domain B.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				TAAGGACCCAGTTCTCTTTGG	0.363													T	35661096	G	T	35661096	3	4	364	1	0	0	0	0	1	0	0	0	13197	1029	36	4	889	4	RBL1	20	35661096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33827	35661096	27364424	14256	37758											
RBL1	5933	broad.mit.edu	37	chr20	35672549	35672549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccacagtgcagaatcGtgactccatgctaaactctc	10	9	7	15	1	1	2	0	1	1	1	5	2	3	2	3	0	3	2	3	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672549G>A	ENST00000373664.3	-	13	1776	c.1710C>T	c.(1708-1710)caC>caT	p.H570H	RBL1_ENST00000344359.3_Silent_p.H570H	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	570	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				GTGCAGAATCGTGACTCCATG	0.458													A	35672549	G	A	35672549	2	1	364	1	0	0	0	0	0	0	0	1	13197	1136	40	1		1	RBL1	20	35672549	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11453	35672549	27352971	14257	37759											
RBL1	5933	broad.mit.edu	37	chr20	35672579	35672579	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaaactctccaaaatctgTtcttcaatgctgtttaggtg	10	15	7	9	0	4	0	1	0	3	0	5	0	4	0	1	1	2	4	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35672579T>G	ENST00000373664.3	-	13	1746	c.1680A>C	c.(1678-1680)gaA>gaC	p.E560D	RBL1_ENST00000344359.3_Missense_Mutation_p.E560D	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	560	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CCAAAATCTGTTCTTCAATGC	0.483													G	35672579	T	G	35672579	3	3	364	1	0	0	0	0	1	0	0	0	13197	1722	60	5	1575	5	RBL1	20	35672579	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30	35672579	27352941	14258	37760											
RPN2	6185	broad.mit.edu	37	chr20	35812582	35812582	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatggttgtttccccccaaGgttcaagcactgtcttcctg	7	13	9	12	0	2	0	1	0	1	0	4	1	4	0	4	2	1	4	4	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35812582G>T	ENST00000237530.6	+	2	324		c.e2-1		RPN2_ENST00000373622.5_Splice_Site	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II						post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				TTCCCCCCAAGGTTCAAGCAC	0.502													T	35812582	G	T	35812582	5	4	364	1	0	0	0	0	0	0	1	0	13699	1014	35	4	19	4	RPN2	20	35812582	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140003	35812582	27212938	14259	37761											
GHRH	2691	broad.mit.edu	37	chr20	35884894	35884894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatggcatctgcataccGccgcatcctgtgcggaagga	10	7	13	11	3	1	1	0	0	1	1	2	4	2	3	3	3	3	3	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:35884894G>A	ENST00000373614.2	-	3	202	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	GHRH_ENST00000237527.3_Missense_Mutation_p.R31W|GHRH_ENST00000373611.2_Missense_Mutation_p.R31W			P01286	SLIB_HUMAN	growth hormone releasing hormone	31					activation of adenylate cyclase activity by G-protein signaling pathway|adenohypophysis development|growth hormone secretion|positive regulation of cAMP biosynthetic process|positive regulation of cell proliferation|positive regulation of circadian sleep/wake cycle, REM sleep|positive regulation of growth hormone secretion|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of multicellular organism growth|response to food	extracellular space|terminal button	growth hormone-releasing hormone activity|growth hormone-releasing hormone receptor binding			lung(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Myeloproliferative disorder(115;0.00878)				TCTGCATACCGCCGCATCCTG	0.632													A	35884894	G	A	35884894	3	1	364	1	0	0	0	0	1	0	0	0	6428	1086	38	1	247	1	GHRH	20	35884894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72312	35884894	27140626	14260	37762											
BLCAP	10904	broad.mit.edu	37	chr20	36147459	36147459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaattgtgcaaggcttccGttccaggaggaagctgagca	12	8	12	9	1	0	1	0	1	0	0	2	3	2	3	2	3	3	5	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36147459G>A	ENST00000414542.2	-	3	565	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W	BLCAP_ENST00000373537.2_Missense_Mutation_p.R40W|BLCAP_ENST00000397137.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397131.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397135.1_Missense_Mutation_p.R40W|BLCAP_ENST00000397134.1_Missense_Mutation_p.R40W	NM_001167820.1|NM_001167823.1	NP_001161292.1|NP_001161295.1	P62952	BLCAP_HUMAN	bladder cancer associated protein	40					apoptosis|cell cycle	integral to membrane		p.R40W(1)		breast(1)|large_intestine(1)|lung(2)|stomach(1)	5		Myeloproliferative disorder(115;0.00878)				CAAGGCTTCCGTTCCAGGAGG	0.567													A	36147459	G	A	36147459	3	1	364	1	0	0	0	0	1	0	0	0	1448	1144	40	1	149	1	BLCAP	20	36147459	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262565	36147459	26878061	14261	37763											
NNAT	4826	broad.mit.edu	37	chr20	36151087	36151087	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtgttcaggtactccctgCagaagctggcatacacggtg	9	9	13	10	1	1	1	1	0	0	1	2	1	2	1	1	4	4	5	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36151087C>T	ENST00000062104.2	+	3	289	c.172C>T	c.(172-174)Cag>Tag	p.Q58*	BLCAP_ENST00000373537.2_Intron|NNAT_ENST00000346199.2_Nonsense_Mutation_p.Q31*|BLCAP_ENST00000414542.2_Intron|BLCAP_ENST00000397137.1_Intron|BLCAP_ENST00000397131.1_Intron|BLCAP_ENST00000397135.1_Intron	NM_005386.2	NP_005377.1	Q16517	NNAT_HUMAN	neuronatin	58					brain development|protein lipoylation|transport					endometrium(1)|kidney(1)|lung(1)	3		Myeloproliferative disorder(115;0.00878)				GTACTCCCTGCAGAAGCTGGC	0.692													T	36151087	C	T	36151087	4	4	364	1	0	0	0	0	0	1	0	0	10584	711	25	2	182	2	NNAT	20	36151087	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3628	36151087	26874433	14262	37764											
KIAA1755	85449	broad.mit.edu	37	chr20	36841593	36841593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggtggtggcaagcaaatGctcgcgggcagggtcaggca	10	5	18	8	2	1	0	1	0	0	0	2	1	1	0	0	6	2	5	0	6	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36841593G>A	ENST00000279024.4	-	14	3725	c.3454C>T	c.(3454-3456)Cat>Tat	p.H1152Y		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	1152										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				GCAAGCAAATGCTCGCGGGCA	0.647													A	36841593	G	A	36841593	3	1	364	1	0	0	0	0	1	0	0	0	8315	1319	46	2	152	2	KIAA1755	20	36841593	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	690506	36841593	26183927	14263	37765											
KIAA1755	85449	broad.mit.edu	37	chr20	36846682	36846682	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagttctcaaattctgcgtgGgctttctccactgtctccaa	8	14	7	12	1	4	0	1	0	4	0	7	0	4	0	2	1	1	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36846682G>T	ENST00000279024.4	-	12	2914	c.2643C>A	c.(2641-2643)gcC>gcA	p.A881A		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	881										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATTCTGCGTGGGCTTTCTCCA	0.582													T	36846682	G	T	36846682	2	4	364	1	0	0	0	0	0	0	0	1	8315	1219	43	4		4	KIAA1755	20	36846682	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5089	36846682	26178838	14264	37766											
KIAA1755	85449	broad.mit.edu	37	chr20	36869797	36869797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccaccttgatgagtcctgGatacttgctcccatatgtcc	7	13	7	14	0	0	2	0	2	0	0	4	3	4	3	5	1	2	1	5	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36869797G>A	ENST00000279024.4	-	3	1007	c.736C>T	c.(736-738)Cca>Tca	p.P246S		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	246								p.P246A(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				ATGAGTCCTGGATACTTGCTC	0.592													A	36869797	G	A	36869797	3	1	364	1	0	0	0	0	1	0	0	0	8315	1174	41	2	2914	2	KIAA1755	20	36869797	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23115	36869797	26155723	14265	37767											
BPI	671	broad.mit.edu	37	chr20	36936031	36936031	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcaagattcctgactacTcagacagctttaagatcaag	14	10	8	9	0	3	4	3	1	0	3	4	5	4	5	1	1	2	1	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36936031T>C	ENST00000262865.4	+	2	294	c.205T>C	c.(205-207)Tca>Cca	p.S69P	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	69					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TCCTGACTACTCAGACAGCTT	0.527													C	36936031	T	C	36936031	3	2	364	1	0	0	0	0	1	0	0	0	1499	1551	54	3	211	3	BPI	20	36936031	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	66234	36936031	26089489	14266	37768											
BPI	671	broad.mit.edu	37	chr20	36962871	36962871	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgaactacattgtacccAttcttgtgctgcccagggtt	8	14	8	11	0	2	1	1	1	1	0	2	1	2	1	2	1	5	3	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:36962871A>G	ENST00000262865.4	+	13	1413	c.1324A>G	c.(1324-1326)Att>Gtt	p.I442V	BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	442					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CATTGTACCCATTCTTGTGCT	0.512													G	36962871	A	G	36962871	3	3	364	1	0	0	0	0	1	0	0	0	1499	217	8	3	1374	3	BPI	20	36962871	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26840	36962871	26062649	14267	37769											
RALGAPB	57148	broad.mit.edu	37	chr20	37117086	37117086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtggcacgatgtactctgAgtggaggtcactgcatttgg	8	12	14	7	1	2	1	1	1	1	0	2	3	2	2	0	4	2	3	0	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37117086A>G	ENST00000262879.6	+	2	295	c.11A>G	c.(10-12)gAg>gGg	p.E4G	RALGAPB_ENST00000397040.1_Missense_Mutation_p.E4G|RALGAPB_ENST00000397038.1_5'UTR|RALGAPB_ENST00000537204.1_Missense_Mutation_p.E4G|RALGAPB_ENST00000397042.3_Missense_Mutation_p.E4G			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	4					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						ATGTACTCTGAGTGGAGGTCA	0.418													G	37117086	A	G	37117086	3	3	364	1	0	0	0	0	1	0	0	0	13103	304	11	3	13	3	RALGAPB	20	37117086	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	154215	37117086	25908434	14268	37770											
PPP1R16B	26051	broad.mit.edu	37	chr20	37529326	37529326	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgcatggcataccaGggtaagggagggcagcctgc	10	5	16	10	0	0	1	0	0	0	1	0	3	0	2	3	4	4	4	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37529326G>T	ENST00000299824.1	+	5	759	c.570G>T	c.(568-570)caG>caT	p.Q190H	PPP1R16B_ENST00000373331.2_Splice_Site_p.Q190H	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	190					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGGCATACCAGGGTAAGGGAG	0.552													T	37529326	G	T	37529326	5	4	364	1	0	0	0	0	0	0	1	0	12448	1014	35	4	584	4	PPP1R16B	20	37529326	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	412240	37529326	25496194	14269	37771											
FAM83D	81610	broad.mit.edu	37	chr20	37570622	37570622	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgattgcagtggtcatggaCgtgttcacagacatcgacat	10	11	12	8	2	2	2	2	1	0	1	3	4	2	3	0	2	1	2	0	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37570622C>T	ENST00000217429.4	+	2	635	c.594C>T	c.(592-594)gaC>gaT	p.D198D		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	168					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				TGGTCATGGACGTGTTCACAG	0.488													T	37570622	C	T	37570622	2	4	364	1	0	0	0	0	0	0	0	1	5686	535	19	1		1	FAM83D	20	37570622	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41296	37570622	25454898	14270	37772											
DHX35	60625	broad.mit.edu	37	chr20	37617553	37617553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgaccagctggccacgaGaattaaggtaaagtgctcaa	14	6	10	11	2	1	1	1	0	0	1	1	3	1	1	3	2	2	3	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37617553G>T	ENST00000252011.3	+	5	476	c.443G>T	c.(442-444)aGa>aTa	p.R148I	DHX35_ENST00000373323.4_Missense_Mutation_p.R117I|DHX35_ENST00000373325.2_Missense_Mutation_p.R148I	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	148	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CTGGCCACGAGAATTAAGGTA	0.493													T	37617553	G	T	37617553	3	4	364	1	0	0	0	0	1	0	0	0	4547	942	33	4	461	4	DHX35	20	37617553	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46931	37617553	25407967	14271	37773											
DHX35	60625	broad.mit.edu	37	chr20	37634834	37634834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacctctatcacaatcagcGgcattgtgtatgtgatcgac	12	11	8	10	2	3	1	2	1	1	0	4	2	3	1	1	1	2	2	1	1	4	3	rs147968535		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:37634834G>A	ENST00000252011.3	+	12	1090	c.1057G>A	c.(1057-1059)Ggc>Agc	p.G353S	DHX35_ENST00000373323.4_Missense_Mutation_p.G322S|DHX35_ENST00000373325.2_Missense_Mutation_p.G353S	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	353	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				CACAATCAGCGGCATTGTGTA	0.458													A	37634834	G	A	37634834	3	1	364	1	0	0	0	0	1	0	0	0	4547	1116	39	1	1103	1	DHX35	20	37634834	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17281	37634834	25390686	14272	37774											
PLCG1	5335	broad.mit.edu	37	chr20	39793914	39793914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctgagggcagtgcctaCgaggaggtgcctacatccat	8	8	14	11	1	0	1	0	1	0	0	1	3	1	2	3	4	4	2	3	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39793914C>T	ENST00000373272.2	+	14	1821	c.1416C>T	c.(1414-1416)taC>taT	p.Y472Y	PLCG1_ENST00000244007.3_Silent_p.Y472Y|PLCG1_ENST00000373271.1_Silent_p.Y472Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	472					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GCAGTGCCTACGAGGAGGTGC	0.562													T	39793914	C	T	39793914	2	4	364	1	0	0	0	0	0	0	0	1	12112	547	19	1		1	PLCG1	20	39793914	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2159080	39793914	23231606	14273	37775											
PLCG1	5335	broad.mit.edu	37	chr20	39794927	39794927	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacaacctcgtctttgactcCctctatgacctcatcacgca	9	11	5	16	2	4	2	2	2	2	0	6	3	5	2	3	0	1	1	3	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39794927C>T	ENST00000373272.2	+	17	2298	c.1893C>T	c.(1891-1893)tcC>tcT	p.S631S	PLCG1_ENST00000244007.3_Silent_p.S631S|PLCG1_ENST00000373271.1_Silent_p.S631S	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	631	SH2 1.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TCTTTGACTCCCTCTATGACC	0.567													T	39794927	C	T	39794927	2	4	364	1	0	0	0	0	0	0	0	1	12112	610	22	2		2	PLCG1	20	39794927	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1013	39794927	23230593	14274	37776											
PLCG1	5335	broad.mit.edu	37	chr20	39796515	39796515	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactacggggccctgtaTgagggacgcaaccctggctt	7	8	13	13	2	0	2	0	2	0	0	0	3	0	3	3	4	2	3	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39796515T>C	ENST00000373272.2	+	20	2730	c.2325T>C	c.(2323-2325)taT>taC	p.Y775Y	PLCG1_ENST00000244007.3_Silent_p.Y775Y|PLCG1_ENST00000373271.1_Silent_p.Y775Y	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	775					activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGGCCCTGTATGAGGGACGCA	0.557													C	39796515	T	C	39796515	2	2	364	1	0	0	0	0	0	0	0	1	12112	1471	51	3		3	PLCG1	20	39796515	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1588	39796515	23229005	14275	37777											
ZHX3	23051	broad.mit.edu	37	chr20	39830786	39830786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacgactcactgttctcaGacacctctgaataggtgtca	10	10	7	14	1	4	2	3	1	2	1	5	3	4	2	2	1	0	1	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:39830786G>A	ENST00000309060.3	-	4	3186	c.2771C>T	c.(2770-2772)tCt>tTt	p.S924F	ZHX3_ENST00000540170.1_Missense_Mutation_p.S924F|ZHX3_ENST00000559234.1_Missense_Mutation_p.S924F|ZHX3_ENST00000432768.2_Missense_Mutation_p.S924F|ZHX3_ENST00000544979.2_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.S924F			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	924					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACTGTTCTCAGACACCTCTGA	0.602													A	39830786	G	A	39830786	3	1	364	1	0	0	0	0	1	0	0	0	17778	942	33	2	107	2	ZHX3	20	39830786	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34271	39830786	23194734	14276	37778											
CHD6	84181	broad.mit.edu	37	chr20	40033814	40033814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcacagcagccatgcctgGcagcatcatgggcagcatgc	9	5	14	13	0	1	0	1	0	0	0	1	0	1	0	2	3	6	6	2	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40033814G>T	ENST00000373233.3	-	37	7744	c.7567C>A	c.(7567-7569)Cca>Aca	p.P2523T	CHD6_ENST00000480022.1_5'UTR	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2523					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCCATGCCTGGCAGCATCATG	0.597													T	40033814	G	T	40033814	3	4	364	1	0	0	0	0	1	0	0	0	3359	1203	42	4	584	4	CHD6	20	40033814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203028	40033814	22991706	14277	37779											
CHD6	84181	broad.mit.edu	37	chr20	40050062	40050062	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcccatctttgcttattGagatggtaataacatctttt	10	18	6	7	0	2	1	0	1	2	1	3	2	3	1	1	1	2	3	1	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40050062G>T	ENST00000373233.3	-	31	5390	c.5213C>A	c.(5212-5214)tCa>tAa	p.S1738*		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1738					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTTGCTTATTGAGATGGTAAT	0.453													T	40050062	G	T	40050062	4	4	364	1	0	0	0	0	0	1	0	0	3359	1294	45	4	2962	4	CHD6	20	40050062	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16248	40050062	22975458	14278	37780											
CHD6	84181	broad.mit.edu	37	chr20	40141510	40141510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgccaggccagtgtagagGctgagagtgcagatgttcga	9	8	15	9	1	0	3	0	1	0	3	1	5	0	3	3	2	2	4	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141510G>A	ENST00000373233.3	-	5	1004	c.827C>T	c.(826-828)gCc>gTc	p.A276V	CHD6_ENST00000309279.7_Missense_Mutation_p.A276V|CHD6_ENST00000373222.3_Missense_Mutation_p.A311V	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	276					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGTGTAGAGGCTGAGAGTGC	0.502													A	40141510	G	A	40141510	3	1	364	1	0	0	0	0	1	0	0	0	3359	1203	42	2	7452	2	CHD6	20	40141510	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91448	40141510	22884010	14279	37781											
CHD6	84181	broad.mit.edu	37	chr20	40141613	40141613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgtattttctgcgctttaCttgccttcccgagcgtcgtt	4	18	8	11	4	1	0	0	0	1	0	3	1	2	0	2	0	4	3	2	0	2	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40141613C>A	ENST00000373233.3	-	5	901	c.724G>T	c.(724-726)Gta>Tta	p.V242L	CHD6_ENST00000309279.7_Missense_Mutation_p.V242L|CHD6_ENST00000373222.3_Missense_Mutation_p.V277L	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	242					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CTGCGCTTTACTTGCCTTCCC	0.478													A	40141613	C	A	40141613	3	1	364	1	0	0	0	0	1	0	0	0	3359	565	20	4	7555	4	CHD6	20	40141613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	103	40141613	22883907	14280	37782											
CHD6	84181	broad.mit.edu	37	chr20	40162052	40162052	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtagcagcttcctcttcaGcagtatacaggtccttctga	8	12	10	11	0	3	1	1	1	2	0	5	1	5	1	2	2	4	5	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40162052G>T	ENST00000373233.3	-	3	368	c.191C>A	c.(190-192)gCt>gAt	p.A64D	CHD6_ENST00000309279.7_Missense_Mutation_p.A64D|CHD6_ENST00000373222.3_Missense_Mutation_p.A99D	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	64					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCTCTTCAGCAGTATACAG	0.463													T	40162052	G	T	40162052	3	4	364	1	0	0	0	0	1	0	0	0	3359	971	34	4	8096	4	CHD6	20	40162052	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20439	40162052	22863468	14281	37783											
PTPRT	11122	broad.mit.edu	37	chr20	40739067	40739067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcatagcagggaacgcCgtggtcaggccagctggtga	9	6	17	9	2	1	1	1	1	0	0	1	2	1	2	2	5	3	3	2	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:40739067C>T	ENST00000373198.4	-	24	3452	c.3217G>A	c.(3217-3219)Ggc>Agc	p.G1073S	PTPRT_ENST00000373201.1_Missense_Mutation_p.G1044S|PTPRT_ENST00000373193.3_Missense_Mutation_p.G1057S|PTPRT_ENST00000373184.1_Missense_Mutation_p.G1064S|PTPRT_ENST00000373190.1_Missense_Mutation_p.G1053S|PTPRT_ENST00000356100.2_Missense_Mutation_p.G1063S|PTPRT_ENST00000373187.1_Missense_Mutation_p.G1054S	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		Tyrosine-protein phosphatase 1.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				CAGGGAACGCCGTGGTCAGGC	0.612													T	40739067	C	T	40739067	3	4	364	1	0	0	0	0	1	0	0	0	12900	652	23	1	1201	1	PTPRT	20	40739067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	577015	40739067	22286453	14282	37784											
PTPRT	11122	broad.mit.edu	37	chr20	41420033	41420033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagtgggtgtcattctcCttcagggttggcaggagaag	8	11	15	7	0	3	1	2	0	1	1	4	2	3	1	1	4	1	3	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:41420033C>A	ENST00000373198.4	-	3	523	c.288G>T	c.(286-288)aaG>aaT	p.K96N	PTPRT_ENST00000373201.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373193.3_Missense_Mutation_p.K96N|PTPRT_ENST00000373184.1_Missense_Mutation_p.K96N|PTPRT_ENST00000373190.1_Missense_Mutation_p.K96N|PTPRT_ENST00000356100.2_Missense_Mutation_p.K96N|PTPRT_ENST00000373187.1_Missense_Mutation_p.K96N	NM_133170.3	NP_573400.3	O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T		MAM.				homophilic cell adhesion|transmembrane receptor protein tyrosine kinase signaling pathway	cell surface|integral to membrane|plasma membrane	alpha-catenin binding|beta-catenin binding|cadherin binding|delta-catenin binding|gamma-catenin binding|protein tyrosine phosphatase activity|receptor activity			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TGTCATTCTCCTTCAGGGTTG	0.567													A	41420033	C	A	41420033	3	1	364	1	0	0	0	0	1	0	0	0	12900	680	24	4	4214	4	PTPRT	20	41420033	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	680966	41420033	21605487	14283	37785											
SGK2	10110	broad.mit.edu	37	chr20	42194986	42194986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcttacctcgggtaggaaaCcctcaggcggtggcaggtgc	7	8	15	11	2	1	0	1	0	0	0	2	1	1	1	2	6	4	3	2	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42194986C>T	ENST00000341458.4	+	1	250	c.31C>T	c.(31-33)Ccc>Tcc	p.P11S	SGK2_ENST00000373100.1_Intron|SGK2_ENST00000373077.1_Intron|SGK2_ENST00000373092.3_Intron|SGK2_ENST00000423407.3_Intron|SGK2_ENST00000426287.1_Missense_Mutation_p.P11S	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	11					intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGGTAGGAAACCCTCAGGCGG	0.577													T	42194986	C	T	42194986	3	4	364	1	0	0	0	0	1	0	0	0	14302	507	18	2	33	2	SGK2	20	42194986	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	774953	42194986	20830534	14284	37786											
SGK2	10110	broad.mit.edu	37	chr20	42213499	42213499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttattgacagacaggacCtgctgacttgaagcattttg	10	14	9	8	0	0	4	0	3	0	1	0	5	0	5	1	1	2	2	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42213499C>A	ENST00000373100.1	+	14	1407	c.947C>A	c.(946-948)cCt>cAt	p.P316H	SGK2_ENST00000373077.1_Missense_Mutation_p.P315H|SGK2_ENST00000373092.3_Missense_Mutation_p.P316H|SGK2_ENST00000341458.4_Missense_Mutation_p.P376H|SGK2_ENST00000423407.3_Missense_Mutation_p.P316H|SGK2_ENST00000426287.1_Missense_Mutation_p.P342H			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	376	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CAGACAGGACCTGCTGACTTG	0.542													A	42213499	C	A	42213499	3	1	364	1	0	0	0	0	1	0	0	0	14302	681	24	4	1173	4	SGK2	20	42213499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18513	42213499	20812021	14285	37787											
IFT52	51098	broad.mit.edu	37	chr20	42232516	42232516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttactagaagaatatggaatCatggttaataatggtaatta	17	14	8	2	0	1	2	1	0	0	2	1	3	1	3	0	3	1	2	0	3	10	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42232516C>T	ENST00000373030.3	+	4	454	c.324C>T	c.(322-324)atC>atT	p.I108I	IFT52_ENST00000373039.4_Silent_p.I108I	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	108						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			AATATGGAATCATGGTTAATA	0.343													T	42232516	C	T	42232516	2	4	364	1	0	0	0	0	0	0	0	1	7619	816	29	2		2	IFT52	20	42232516	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19017	42232516	20793004	14286	37788											
MYBL2	4605	broad.mit.edu	37	chr20	42344668	42344668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatgcaggagaaagccCggcagctcctgggccgcctg	7	8	13	13	2	1	1	1	0	0	1	2	2	2	1	4	3	3	3	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42344668C>T	ENST00000217026.4	+	14	2171	c.2044C>T	c.(2044-2046)Cgg>Tgg	p.R682W	MYBL2_ENST00000396863.4_Missense_Mutation_p.R658W	NM_002466.2	NP_002457.1	P10244	MYBB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 2	682						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	46		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGAGAAAGCCCGGCAGCTCCT	0.612													T	42344668	C	T	42344668	3	4	364	1	0	0	0	0	1	0	0	0	10086	643	23	1	2098	1	MYBL2	20	42344668	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112152	42344668	20680852	14287	37789											
GTSF1L	149699	broad.mit.edu	37	chr20	42355251	42355251	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggttctttctcctgcaCgatgccaggtggtactggaa	6	13	13	9	1	2	0	0	0	2	0	3	2	2	1	2	5	3	3	2	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:42355251C>T	ENST00000373003.1	-	1	387	c.84G>A	c.(82-84)tcG>tcA	p.S28S	GTSF1L_ENST00000373005.2_Silent_p.S28S	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	28							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			TTCTCCTGCACGATGCCAGGT	0.498													T	42355251	C	T	42355251	2	4	364	1	0	0	0	0	0	0	0	1	6942	523	19	1		1	GTSF1L	20	42355251	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10583	42355251	20670269	14288	37790											
HNF4A	3172	broad.mit.edu	37	chr20	43030050	43030050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgtcgacatggacatggCcgactacagtgctgcactgg	8	8	12	13	3	0	0	0	0	0	0	2	3	0	1	2	3	3	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43030050C>T	ENST00000316099.4	+	1	127	c.38C>T	c.(37-39)gCc>gTc	p.A13V	HNF4A_ENST00000415691.2_Missense_Mutation_p.A13V|HNF4A_ENST00000609795.1_Intron|HNF4A_ENST00000457232.1_Intron|HNF4A_ENST00000443598.2_Missense_Mutation_p.A13V|HNF4A_ENST00000316673.4_Intron	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			ATGGACATGGCCGACTACAGT	0.637													T	43030050	C	T	43030050	3	4	364	1	0	0	0	0	1	0	0	0	7308	739	26	2	93	2	HNF4A	20	43030050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	674799	43030050	19995470	14289	37791											
TTPAL	79183	broad.mit.edu	37	chr20	43113129	43113129	+	Frame_Shift_Del	DEL	T	T	-																															gtttatcaaaagcatctcacTttggcccttttatagccaaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43113129delT	ENST00000372904.3	+	4	741	c.598delT	c.(598-600)tttfs	p.F200fs	TTPAL_ENST00000262605.4_Frame_Shift_Del_p.F200fs|TTPAL_ENST00000372906.2_Intron	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	200	CRAL-TRIO.					intracellular	transporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						AGCATCTCACTTTGGCCCTTT	0.458													-	43113129	T	-	43113129	7	5	364	1	0	1	0	1	0	0	0	0	16839	1609	56	0	604	0	TTPAL	20	43113129	Frame_Shift_Del	DEL	T	TCGA-DU-6392-01A-11D-1705-08	83079	43113129	19912391	14290	37792											
SERINC3	10955	broad.mit.edu	37	chr20	43141617	43141617	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggattttaaatccccCttcacaaaatccaggaatct	13	12	4	12	0	3	0	2	0	1	0	5	2	5	2	3	2	0	0	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43141617C>A	ENST00000342374.4	-	3	377	c.220G>T	c.(220-222)Ggg>Tgg	p.G74W	SERINC3_ENST00000541235.1_Missense_Mutation_p.G19W|SERINC3_ENST00000255175.1_Missense_Mutation_p.G74W	NM_006811.2	NP_006802.1	Q13530	SERC3_HUMAN	serine incorporator 3	74						integral to membrane|plasma membrane	protein binding			endometrium(4)|large_intestine(2)|lung(8)|skin(3)|urinary_tract(1)	18		Myeloproliferative disorder(115;0.0122)	Colorectal(3;0.000291)|COAD - Colon adenocarcinoma(18;0.00189)			TTAAATCCCCCTTCACAAAAT	0.393													A	43141617	C	A	43141617	3	1	364	1	0	0	0	0	1	0	0	0	14174	681	24	4	1233	4	SERINC3	20	43141617	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28488	43141617	19883903	14291	37793											
ADA	100	broad.mit.edu	37	chr20	43249743	43249743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtggacttgaagatgagCgggtcatctgtgttgagcga	9	10	17	5	2	2	4	1	3	1	1	2	6	2	5	0	3	2	1	0	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43249743C>T	ENST00000372874.4	-	10	1025	c.891G>A	c.(889-891)ccG>ccA	p.P297P	ADA_ENST00000537820.1_Silent_p.P273P|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	297			P -> Q (in ADASCID; dbSNP:rs121908718).		adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGAAGATGAGCGGGTCATCTG	0.483									Adenosine Deaminase Deficiency				T	43249743	C	T	43249743	2	4	364	1	0	0	0	0	0	0	0	1	230	755	27	1		1	ADA	20	43249743	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108126	43249743	19775777	14292	37794											
ADA	100	broad.mit.edu	37	chr20	43251484	43251484	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttacctcgaagtgcatgtTttcctgccgcagcctgttat	6	14	9	12	2	0	0	0	0	0	0	2	1	1	0	4	0	4	5	4	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43251484T>G	ENST00000372874.4	-	8	900	c.766A>C	c.(766-768)Aac>Cac	p.N256H	ADA_ENST00000537820.1_Missense_Mutation_p.N232H|PKIG_ENST00000372882.3_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372887.1_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	256					adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	AAGTGCATGTTTTCCTGCCGC	0.592									Adenosine Deaminase Deficiency				G	43251484	T	G	43251484	3	3	364	1	0	0	0	0	1	0	0	0	230	1841	64	5	345	5	ADA	20	43251484	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1741	43251484	19774036	14293	37795											
KCNK15	60598	broad.mit.edu	37	chr20	43374622	43374622	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacctgctggtgggcgctgCtgtcttcgacgcgctcgagt	3	12	14	12	5	1	0	0	0	1	0	3	2	1	0	1	2	3	4	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43374622C>A	ENST00000372861.3	+	1	202	c.71C>A	c.(70-72)gCt>gAt	p.A24D	RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN	potassium channel, subfamily K, member 15	24						integral to membrane	potassium channel activity|voltage-gated ion channel activity			NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(115;0.0122)				GTGGGCGCTGCTGTCTTCGAC	0.736													A	43374622	C	A	43374622	3	1	364	1	0	0	0	0	1	0	0	0	8120	797	28	4	73	4	KCNK15	20	43374622	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	123138	43374622	19650898	14294	37796											
PABPC1L	80336	broad.mit.edu	37	chr20	43561799	43561799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctccacccaggtgccaCgcacggtgcctcatacccag	8	5	10	18	2	1	0	1	0	0	0	2	0	2	0	6	3	3	1	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43561799C>T	ENST00000372824.1	+	1	1597	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	PABPC1L_ENST00000217073.2_Missense_Mutation_p.R473C|PABPC1L_ENST00000372819.1_Missense_Mutation_p.R27C|PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000217075.2_Missense_Mutation_p.R27C|PABPC1L_ENST00000255136.3_Missense_Mutation_p.R473C			Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	473	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCAGGTGCCACGCACGGTGCC	0.652													T	43561799	C	T	43561799	3	4	364	1	0	0	0	0	1	0	0	0	11440	536	19	1	1455	1	PABPC1L	20	43561799	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187177	43561799	19463721	14295	37797											
TOMM34	10953	broad.mit.edu	37	chr20	43580536	43580536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatctctttgtggttctccGaaggcaaggaattccacctc	8	12	8	13	1	2	0	0	0	2	0	6	2	3	1	4	3	0	2	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580536G>A	ENST00000372813.3	-	4	640	c.488C>T	c.(487-489)tCg>tTg	p.S163L	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	163					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding	p.S163L(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				GTGGTTCTCCGAAGGCAAGGA	0.527													A	43580536	G	A	43580536	3	1	364	1	0	0	0	0	1	0	0	0	16457	1059	37	1	457	1	TOMM34	20	43580536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18737	43580536	19444984	14296	37798											
TOMM34	10953	broad.mit.edu	37	chr20	43580603	43580603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagggcagcttcaggcGccactcaggcccaagcgagt	9	6	14	12	2	2	1	2	1	0	0	2	3	2	1	2	3	2	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43580603G>A	ENST00000372813.3	-	4	573	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	141					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane	heat shock protein binding|signal sequence binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				AGCTTCAGGCGCCACTCAGGC	0.517													A	43580603	G	A	43580603	3	1	364	1	0	0	0	0	1	0	0	0	16457	1087	38	1	524	1	TOMM34	20	43580603	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	43580603	19444917	14297	37799											
SEMG1	6406	broad.mit.edu	37	chr20	43836470	43836470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtaaagaacaaacttccGtctctggtgcacaaaaaggt	16	9	8	8	1	1	1	0	0	1	1	3	1	2	1	1	2	3	2	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43836470G>A	ENST00000372781.3	+	2	589	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	SEMG1_ENST00000244069.6_Missense_Mutation_p.V178I	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				ACAAACTTCCGTCTCTGGTGC	0.423													A	43836470	G	A	43836470	3	1	364	1	0	0	0	0	1	0	0	0	14137	1145	40	1	538	1	SEMG1	20	43836470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	255867	43836470	19189050	14298	37800											
MATN4	8785	broad.mit.edu	37	chr20	43926866	43926866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctgggagcggccatccGtgaagaccaggccaacacga	11	4	12	14	3	0	2	0	1	0	1	2	4	2	3	5	3	2	0	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926866G>A	ENST00000537548.1	-	8	1614	c.1370C>T	c.(1369-1371)aCg>aTg	p.T457M	MATN4_ENST00000372751.4_Missense_Mutation_p.T308M|MATN4_ENST00000342716.4_Missense_Mutation_p.T457M|MATN4_ENST00000372756.1_Missense_Mutation_p.T457M|MATN4_ENST00000353917.5_Missense_Mutation_p.T375M|MATN4_ENST00000360607.6_Missense_Mutation_p.T416M|MATN4_ENST00000372754.1_Missense_Mutation_p.T498M			O95460	MATN4_HUMAN	matrilin 4	498	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GCGGCCATCCGTGAAGACCAG	0.667													A	43926866	G	A	43926866	3	1	364	1	0	0	0	0	1	0	0	0	9411	1145	40	1	391	1	MATN4	20	43926866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90396	43926866	19098654	14299	37801											
MATN4	8785	broad.mit.edu	37	chr20	43926995	43926995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgttccatgtactccacgGccaggaccgcctgcttcacc	6	8	9	18	4	1	0	1	0	0	0	3	1	3	1	6	2	2	3	6	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43926995G>A	ENST00000537548.1	-	8	1485	c.1241C>T	c.(1240-1242)gCc>gTc	p.A414V	MATN4_ENST00000372751.4_Missense_Mutation_p.A265V|MATN4_ENST00000342716.4_Missense_Mutation_p.A414V|MATN4_ENST00000372756.1_Missense_Mutation_p.A414V|MATN4_ENST00000353917.5_Missense_Mutation_p.A332V|MATN4_ENST00000360607.6_Missense_Mutation_p.A373V|MATN4_ENST00000372754.1_Missense_Mutation_p.A455V			O95460	MATN4_HUMAN	matrilin 4	455	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				GTACTCCACGGCCAGGACCGC	0.697													A	43926995	G	A	43926995	3	1	364	1	0	0	0	0	1	0	0	0	9411	1203	42	2	520	2	MATN4	20	43926995	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129	43926995	19098525	14300	37802											
MATN4	8785	broad.mit.edu	37	chr20	43933260	43933260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcgcggagagggaagacgCtctgcacttgactcgaatac	11	6	13	11	5	1	3	0	1	1	2	2	6	1	4	0	2	2	2	0	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43933260C>A	ENST00000537548.1	-	4	495	c.251G>T	c.(250-252)aGc>aTc	p.S84I	MATN4_ENST00000372751.4_Intron|MATN4_ENST00000342716.4_Missense_Mutation_p.S84I|MATN4_ENST00000372756.1_Missense_Mutation_p.S84I|MATN4_ENST00000353917.5_Missense_Mutation_p.S84I|MATN4_ENST00000360607.6_Missense_Mutation_p.S84I|MATN4_ENST00000372754.1_Missense_Mutation_p.S84I			O95460	MATN4_HUMAN	matrilin 4	84	VWFA 1.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				AGGGAAGACGCTCTGCACTTG	0.652													A	43933260	C	A	43933260	3	1	364	1	0	0	0	0	1	0	0	0	9411	797	28	4	1526	4	MATN4	20	43933260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6265	43933260	19092260	14301	37803											
RBPJL	11317	broad.mit.edu	37	chr20	43944893	43944893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcttgctggaccatcatcGgcaccgagtcggtggaattt	7	11	12	11	3	2	0	1	0	1	0	4	3	2	2	2	4	1	3	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43944893G>A	ENST00000343694.3	+	10	1159	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	RBPJL_ENST00000372743.1_Missense_Mutation_p.G363S|RBPJL_ENST00000464504.1_Intron|RBPJL_ENST00000372741.3_Missense_Mutation_p.G363S	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	363					signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				GACCATCATCGGCACCGAGTC	0.632													A	43944893	G	A	43944893	3	1	364	1	0	0	0	0	1	0	0	0	13250	1116	39	1	1125	1	RBPJL	20	43944893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11633	43944893	19080627	14302	37804											
SYS1	90196	broad.mit.edu	37	chr20	43995598	43995598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatttctttcacctcctggGctgctggttctacagctccc	4	14	7	16	0	3	0	1	0	2	0	5	0	5	0	4	2	3	4	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:43995598G>A	ENST00000243918.5	+	4	605	c.314G>A	c.(313-315)gGc>gAc	p.G105D	SYS1_ENST00000479779.1_3'UTR|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_Intron|SYS1_ENST00000414310.1_Missense_Mutation_p.G84D|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1_ENST00000372727.1_Missense_Mutation_p.G105D	NM_033542.3	NP_291020.1	Q8N2H4	SYS1_HUMAN	SYS1 Golgi-localized integral membrane protein homolog (S. cerevisiae)	105					protein transport	Golgi membrane|integral to membrane				cervix(1)|endometrium(2)|large_intestine(2)|prostate(1)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CACCTCCTGGGCTGCTGGTTC	0.587													A	43995598	G	A	43995598	3	1	364	1	0	0	0	0	1	0	0	0	15561	1203	42	2	324	2	SYS1	20	43995598	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50705	43995598	19029922	14303	37805											
PIGT	51604	broad.mit.edu	37	chr20	44047956	44047956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgaccactactttctgcGctatgctgtgctgccgcggg	5	11	11	14	3	1	1	0	1	1	0	1	1	1	1	2	1	5	3	2	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44047956G>A	ENST00000279036.6	+	4	595	c.515G>A	c.(514-516)cGc>cAc	p.R172H	PIGT_ENST00000372689.5_Missense_Mutation_p.R172H|PIGT_ENST00000535404.1_Intron|PIGT_ENST00000279035.9_Missense_Mutation_p.R70H|PIGT_ENST00000543458.2_Missense_Mutation_p.R116H|PIGT_ENST00000341555.5_Intron|PIGT_ENST00000545755.1_Intron	NM_015937.5	NP_057021.2	Q969N2	PIGT_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class T	172					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(1)|endometrium(2)|kidney(5)|large_intestine(4)|lung(7)|pancreas(1)|skin(1)|stomach(1)	22		Myeloproliferative disorder(115;0.0122)				TACTTTCTGCGCTATGCTGTG	0.602													A	44047956	G	A	44047956	3	1	364	1	0	0	0	0	1	0	0	0	11976	1087	38	1	529	1	PIGT	20	44047956	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52358	44047956	18977564	14304	37806											
SPINT4	391253	broad.mit.edu	37	chr20	44351048	44351048	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcttctaagattcttcatCttctgctcattgaataccct	8	19	3	11	0	7	2	2	1	5	1	7	2	7	2	1	0	2	1	1	0	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44351048C>A	ENST00000279058.3	+	1	59	c.42C>A	c.(40-42)atC>atA	p.I14I		NM_178455.1	NP_848550.1	Q6UDR6	SPIT4_HUMAN	serine peptidase inhibitor, Kunitz type 4	14						extracellular region	serine-type endopeptidase inhibitor activity			lung(6)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.028)				GATTCTTCATCTTCTGCTCAT	0.413													A	44351048	C	A	44351048	2	1	364	1	0	0	0	0	0	0	0	1	15166	903	32	4		4	SPINT4	20	44351048	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	303092	44351048	18674472	14305	37807											
DNTTIP1	116092	broad.mit.edu	37	chr20	44430695	44430695	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accgggcagccgccggcatgGtgtgagtagggaccaacagt	9	5	16	11	3	0	1	0	1	0	0	0	2	0	2	4	4	2	3	4	4	2	1	rs147664923		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44430695G>A	ENST00000372622.3	+	7	624	c.556G>A	c.(556-558)Gta>Ata	p.V186I		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	186						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				CGCCGGCATGGTGTGAGTAGG	0.577													A	44430695	G	A	44430695	5	1	364	1	0	0	0	0	0	0	1	0	4720	1275	44	2	582	2	DNTTIP1	20	44430695	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	79647	44430695	18594825	14306	37808											
DNTTIP1	116092	broad.mit.edu	37	chr20	44439805	44439805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacggacagagaatgagcatCgtgctgttgaagcacctcca	12	8	11	10	2	0	3	0	2	0	1	2	5	1	4	2	1	4	4	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44439805C>T	ENST00000372622.3	+	13	1029	c.961C>T	c.(961-963)Cgt>Tgt	p.R321C		NM_052951.2	NP_443183.1	Q9H147	TDIF1_HUMAN	deoxynucleotidyltransferase, terminal, interacting protein 1	321						nucleus				breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9		Myeloproliferative disorder(115;0.0122)				GAATGAGCATCGTGCTGTTGA	0.557													T	44439805	C	T	44439805	3	4	364	1	0	0	0	0	1	0	0	0	4720	884	31	1	1011	1	DNTTIP1	20	44439805	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9110	44439805	18585715	14307	37809											
SNX21	90203	broad.mit.edu	37	chr20	44463100	44463100	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggatgggacgtcaggagaAgacgcaggcgagtgcaggag	11	3	21	6	3	1	2	1	0	0	2	1	7	1	5	0	6	1	2	0	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44463100A>G	ENST00000372542.1	+	1	567	c.255A>G	c.(253-255)gaA>gaG	p.E85E	SNX21_ENST00000462307.1_Silent_p.E94E|SNX21_ENST00000342644.5_Silent_p.E94E|SNX21_ENST00000491381.1_Silent_p.E94E|SNX21_ENST00000372541.1_Silent_p.E85E|SNX21_ENST00000344780.4_3'UTR			Q969T3	SNX21_HUMAN	sorting nexin family member 21	94					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	7		Myeloproliferative disorder(115;0.0122)				CGTCAGGAGAAGACGCAGGCG	0.667													G	44463100	A	G	44463100	2	3	364	1	0	0	0	0	0	0	0	1	14987	69	3	3		3	SNX21	20	44463100	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	23295	44463100	18562420	14308	37810											
ZSWIM3	140831	broad.mit.edu	37	chr20	44506742	44506742	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgccacaatgagtgggaGgtggtacagaactccaccca	11	7	12	11	0	0	2	0	1	0	1	1	3	1	3	3	3	3	1	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44506742G>A	ENST00000255152.2	+	2	1754	c.1545G>A	c.(1543-1545)gaG>gaA	p.E515E	ZSWIM3_ENST00000454862.2_Silent_p.E509E	NM_080752.3	NP_542790.2	Q96MP5	ZSWM3_HUMAN	zinc finger, SWIM-type containing 3	515							zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	35		Myeloproliferative disorder(115;0.0122)				ATGAGTGGGAGGTGGTACAGA	0.567													A	44506742	G	A	44506742	2	1	364	1	0	0	0	0	0	0	0	1	18339	991	35	2		2	ZSWIM3	20	44506742	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	43642	44506742	18518778	14309	37811											
ZSWIM1	90204	broad.mit.edu	37	chr20	44511609	44511609	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacactgaaggcctggcCcagatgttccaagtattcaa	12	8	11	10	0	1	2	1	1	0	1	2	4	2	3	3	3	0	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44511609C>T	ENST00000372523.1	+	2	473	c.378C>T	c.(376-378)gcC>gcT	p.A126A	ZSWIM1_ENST00000372520.1_Silent_p.A126A	NM_080603.4	NP_542170.3	Q9BR11	ZSWM1_HUMAN	zinc finger, SWIM-type containing 1	126							zinc ion binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13		Myeloproliferative disorder(115;0.028)				AAGGCCTGGCCCAGATGTTCC	0.532													T	44511609	C	T	44511609	2	4	364	1	0	0	0	0	0	0	0	1	18337	610	22	2		2	ZSWIM1	20	44511609	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4867	44511609	18513911	14310	37812											
PLTP	5360	broad.mit.edu	37	chr20	44531097	44531097	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatagtcatgctggacagCtggacctcaggctggtctgg	8	9	13	11	0	3	0	2	0	1	0	3	2	3	2	2	5	2	3	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44531097C>T	ENST00000542937.1	-	10	1683	c.1149G>A	c.(1147-1149)caG>caA	p.Q383Q	PLTP_ENST00000372420.1_Silent_p.Q275Q|PLTP_ENST00000420868.2_Silent_p.Q268Q|PLTP_ENST00000477313.1_Silent_p.Q363Q|PLTP_ENST00000354050.4_Silent_p.Q311Q|PLTP_ENST00000372431.3_Silent_p.Q363Q			P55058	PLTP_HUMAN	phospholipid transfer protein	363					cellular lipid metabolic process|lipid transport	extracellular region	lipid binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)	21		Myeloproliferative disorder(115;0.0122)				TGCTGGACAGCTGGACCTCAG	0.612													T	44531097	C	T	44531097	2	4	364	1	0	0	0	0	0	0	0	1	12191	796	28	2		2	PLTP	20	44531097	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19488	44531097	18494423	14311	37813											
PCIF1	63935	broad.mit.edu	37	chr20	44576240	44576240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggctttgccaagtgggCgccgacgcctgaacggctgc	5	7	14	15	4	0	1	0	1	0	0	0	2	0	1	4	3	3	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576240C>T	ENST00000372409.3	+	17	2325	c.1961C>T	c.(1960-1962)gCg>gTg	p.A654V	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	654						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						GCCAAGTGGGCGCCGACGCCT	0.622													T	44576240	C	T	44576240	3	4	364	1	0	0	0	0	1	0	0	0	11656	768	27	1	2019	1	PCIF1	20	44576240	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45143	44576240	18449280	14312	37814											
PCIF1	63935	broad.mit.edu	37	chr20	44576322	44576322	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctggttcttcctcatcGtcctcctcggaggccaagga	6	11	10	14	2	3	0	1	0	2	0	8	2	6	2	4	4	1	2	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44576322G>A	ENST00000372409.3	+	17	2407	c.2043G>A	c.(2041-2043)tcG>tcA	p.S681S	PCIF1_ENST00000479348.1_3'UTR	NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	681	Poly-Ser.					nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						CTTCCTCATCGTCCTCCTCGG	0.667													A	44576322	G	A	44576322	2	1	364	1	0	0	0	0	0	0	0	1	11656	1132	40	1		1	PCIF1	20	44576322	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	82	44576322	18449198	14313	37815											
ZNF335	63925	broad.mit.edu	37	chr20	44581339	44581339	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggctgcctctcctgcGggctcctcgctgtgggcatg	1	10	15	15	2	1	0	0	0	1	0	4	0	2	0	4	3	2	4	4	3	0	0	rs143040607		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44581339G>A	ENST00000322927.2	-	19	2812	c.2712C>T	c.(2710-2712)ccC>ccT	p.P904P	ZNF335_ENST00000426788.1_Silent_p.P749P	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	904					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				CCTCTCCTGCGGGCTCCTCGC	0.572													A	44581339	G	A	44581339	2	1	364	1	0	0	0	0	0	0	0	1	17953	1103	39	1		1	ZNF335	20	44581339	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5017	44581339	18444181	14314	37816											
ZNF335	63925	broad.mit.edu	37	chr20	44588001	44588001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttgcgtgtcggcaccGtacgtgcaggcgcaggttct	4	10	15	12	5	1	0	0	0	1	0	2	0	1	0	1	3	4	7	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44588001G>A	ENST00000322927.2	-	15	2192	c.2092C>T	c.(2092-2094)Cgg>Tgg	p.R698W	ZNF335_ENST00000426788.1_Missense_Mutation_p.R543W	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	698					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				TGTCGGCACCGTACGTGCAGG	0.632													A	44588001	G	A	44588001	3	1	364	1	0	0	0	0	1	0	0	0	17953	1144	40	1	1992	1	ZNF335	20	44588001	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6662	44588001	18437519	14315	37817											
MMP9	4318	broad.mit.edu	37	chr20	44640806	44640806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatggggggcaactcggCgggggagctgtgcgtcttcc	4	8	20	9	3	1	1	0	1	1	0	3	2	2	2	1	7	3	2	1	7	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44640806C>T	ENST00000372330.3	+	7	1047	c.1028C>T	c.(1027-1029)gCg>gTg	p.A343V		NM_004994.2	NP_004985.2	P14780	MMP9_HUMAN	matrix metallopeptidase 9 (gelatinase B, 92kDa gelatinase, 92kDa type IV collagenase)	343	Fibronectin type-II 3.				collagen catabolic process|macrophage differentiation|positive regulation of keratinocyte migration|proteolysis	extracellular space|proteinaceous extracellular matrix	collagen binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(4)|large_intestine(14)|liver(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	46		Myeloproliferative disorder(115;0.0122)			Glucosamine(DB01296)|Marimastat(DB00786)|Minocycline(DB01017)|Simvastatin(DB00641)	GGCAACTCGGCGGGGGAGCTG	0.632													T	44640806	C	T	44640806	3	4	364	1	0	0	0	0	1	0	0	0	9745	768	27	1	1054	1	MMP9	20	44640806	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52805	44640806	18384714	14316	37818											
SLC12A5	57468	broad.mit.edu	37	chr20	44665968	44665968	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgggcctctgcttctacCtgggcactacctttgcagga	5	11	11	14	1	2	0	0	0	2	0	2	1	2	1	4	3	4	3	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44665968C>T	ENST00000243964.3	+	6	654	c.556C>T	c.(556-558)Ctg>Ttg	p.L186L	SLC12A5_ENST00000372315.1_Silent_p.L186L|SLC12A5_ENST00000454036.2_Silent_p.L209L	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	209					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTGCTTCTACCTGGGCACTAC	0.572													T	44665968	C	T	44665968	2	4	364	1	0	0	0	0	0	0	0	1	14480	680	24	2		2	SLC12A5	20	44665968	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	25162	44665968	18359552	14317	37819											
SLC12A5	57468	broad.mit.edu	37	chr20	44666019	44666019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggcaccatcgaaatcCtgctggtaagagaggctgag	10	8	13	10	1	0	2	0	1	0	1	3	4	2	2	3	3	1	4	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44666019C>A	ENST00000243964.3	+	6	705	c.607C>A	c.(607-609)Ctg>Atg	p.L203M	SLC12A5_ENST00000372315.1_Missense_Mutation_p.L203M|SLC12A5_ENST00000454036.2_Missense_Mutation_p.L226M	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	226					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATCGAAATCCTGCTGGTAAG	0.577													A	44666019	C	A	44666019	3	1	364	1	0	0	0	0	1	0	0	0	14480	680	24	4	754	4	SLC12A5	20	44666019	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51	44666019	18359501	14318	37820											
SLC12A5	57468	broad.mit.edu	37	chr20	44673721	44673722	+	Frame_Shift_Ins	INS	-	-	A																															gctgggctgcagagcctcacINSgggggccccacgcctgctgc																								rs41282782	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44673721_44673722insA	ENST00000243964.3	+	12	1609_1610	c.1511_1512insA	c.(1510-1515)acggggfs	p.TG504fs	SLC12A5_ENST00000454036.2_Frame_Shift_Ins_p.TG527fs	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	527					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CAGAGCCTCACGGGGGCCCCAC	0.619													A	44673722	-	A	44673721	7	5	364	1	0	1	1	0	0	0	0	0	14480	536	19	0	1682	0	SLC12A5	20	44673721	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	7702	44673721	18351799	14319	37821											
SLC12A5	57468	broad.mit.edu	37	chr20	44674605	44674605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gattggcatcctcattgcatCcctcgacgaggtggccccca	7	9	10	15	2	1	0	1	0	0	0	4	3	3	0	4	3	1	2	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44674605C>T	ENST00000243964.3	+	13	1756	c.1658C>T	c.(1657-1659)tCc>tTc	p.S553F	SLC12A5_ENST00000454036.2_Missense_Mutation_p.S576F	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	576					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	CTCATTGCATCCCTCGACGAG	0.592													T	44674605	C	T	44674605	3	4	364	1	0	0	0	0	1	0	0	0	14480	855	30	2	1833	2	SLC12A5	20	44674605	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	884	44674605	18350915	14320	37822											
SLC12A5	57468	broad.mit.edu	37	chr20	44683580	44683580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcgacatctcagcttacaCctatgagaagacgttggtga	12	9	11	9	2	1	3	1	2	1	2	2	6	1	3	1	1	3	2	1	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44683580C>T	ENST00000243964.3	+	21	2803	c.2705C>T	c.(2704-2706)aCc>aTc	p.T902I	SLC12A5_ENST00000454036.2_Missense_Mutation_p.T925I	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	925					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCAGCTTACACCTATGAGAAG	0.567													T	44683580	C	T	44683580	3	4	364	1	0	0	0	0	1	0	0	0	14480	507	18	2	2912	2	SLC12A5	20	44683580	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8975	44683580	18341940	14321	37823											
NCOA5	57727	broad.mit.edu	37	chr20	44691373	44691373	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccactattgaagaggctgaGgattttggcctgaagctctt	9	12	12	8	0	1	4	0	3	1	1	1	5	1	5	2	3	1	2	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44691373G>T	ENST00000290231.6	-	8	1470	c.1306C>A	c.(1306-1308)Ctc>Atc	p.L436I		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				AAGAGGCTGAGGATTTTGGCC	0.592													T	44691373	G	T	44691373	3	4	364	1	0	0	0	0	1	0	0	0	10308	1000	35	4	437	4	NCOA5	20	44691373	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7793	44691373	18334147	14322	37824											
NCOA5	57727	broad.mit.edu	37	chr20	44692146	44692146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctggagggtggcccccacGcactccctcctcagggcctc	4	6	13	18	1	1	0	1	0	0	0	4	1	3	1	5	5	0	2	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44692146G>A	ENST00000290231.6	-	7	1167	c.1003C>T	c.(1003-1005)Cgt>Tgt	p.R335C		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGGCCCCCACGCACTCCCTCC	0.587													A	44692146	G	A	44692146	3	1	364	1	0	0	0	0	1	0	0	0	10308	1087	38	1	744	1	NCOA5	20	44692146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	773	44692146	18333374	14323	37825											
CD40	958	broad.mit.edu	37	chr20	44746989	44746989	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctcacctcgctatggttCgtctgcctctgcagtgcgtc	3	13	11	14	3	3	0	1	0	3	0	7	0	3	0	2	2	3	3	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44746989C>T	ENST00000372285.3	+	1	79	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	CD40_ENST00000372276.3_Missense_Mutation_p.R3C	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	3					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	CGCTATGGTTCGTCTGCCTCT	0.652									Immune Deficiency with Hyper-IgM				T	44746989	C	T	44746989	3	4	364	1	0	0	0	0	1	0	0	0	3045	884	31	1	9	1	CD40	20	44746989	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54843	44746989	18278531	14324	37826											
SLC35C2	51006	broad.mit.edu	37	chr20	44983845	44983845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaacatgaagagacccccGgcgatgaggaggaccaccag	13	3	14	11	2	0	4	0	3	0	1	0	8	0	6	4	3	1	0	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:44983845G>A	ENST00000372227.1	-	6	984	c.444C>T	c.(442-444)gcC>gcT	p.A148A	SLC35C2_ENST00000317734.8_Intron|SLC35C2_ENST00000543605.1_Silent_p.A177A|SLC35C2_ENST00000372230.5_Silent_p.A148A|SLC35C2_ENST00000243896.2_Silent_p.A148A|SLC35C2_ENST00000372229.1_Silent_p.A15A	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	148					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				AGAGACCCCCGGCGATGAGGA	0.607													A	44983845	G	A	44983845	2	1	364	1	0	0	0	0	0	0	0	1	14674	1103	39	1		1	SLC35C2	20	44983845	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	236856	44983845	18041675	14325	37827											
ELMO2	63916	broad.mit.edu	37	chr20	45000096	45000096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccggcagtaccagaaccGttctggaacacaagggaagc	14	4	11	12	2	1	1	0	0	1	1	1	3	1	3	3	3	5	3	3	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45000096G>A	ENST00000372176.1	-	19	1900	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W	ELMO2_ENST00000454865.2_Missense_Mutation_p.R298W|ELMO2_ENST00000396391.1_Missense_Mutation_p.R566W|ELMO2_ENST00000439931.2_Missense_Mutation_p.R578W|ELMO2_ENST00000352077.2_Missense_Mutation_p.R564W|ELMO2_ENST00000445496.2_Missense_Mutation_p.R383W|ELMO2_ENST00000290246.6_Missense_Mutation_p.R566W			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	566	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				TACCAGAACCGTTCTGGAACA	0.557													A	45000096	G	A	45000096	3	1	364	1	0	0	0	0	1	0	0	0	5107	1144	40	1	482	1	ELMO2	20	45000096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16251	45000096	18025424	14326	37828											
ZNF334	55713	broad.mit.edu	37	chr20	45130708	45130708	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcctgtatgacttcttcGatgcacattgagggcagatt	8	14	9	10	1	2	3	0	2	2	1	4	4	2	3	1	1	1	3	1	1	1	5	rs143794973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45130708G>A	ENST00000457685.2	-	6	2479	c.1156C>T	c.(1156-1158)Cga>Tga	p.R386*	ZNF334_ENST00000347606.4_Nonsense_Mutation_p.R424*|ZNF334_ENST00000593880.1_Nonsense_Mutation_p.R447*			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TGACTTCTTCGATGCACATTG	0.418													A	45130708	G	A	45130708	4	1	364	1	0	0	0	0	0	1	0	0	17952	1066	37	1	776	1	ZNF334	20	45130708	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130612	45130708	17894812	14327	37829											
ZNF334	55713	broad.mit.edu	37	chr20	45131588	45131588	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatttatagggcattttTcttgagggaacactattcat	11	17	7	6	0	2	1	1	1	1	0	2	2	2	2	0	2	2	1	0	2	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45131588T>G	ENST00000457685.2	-	6	1599	c.276A>C	c.(274-276)agA>agC	p.R92S	ZNF334_ENST00000347606.4_Missense_Mutation_p.R130S|ZNF334_ENST00000593880.1_Missense_Mutation_p.R153S			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	130					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AGGGCATTTTTCTTGAGGGAA	0.343													G	45131588	T	G	45131588	3	3	364	1	0	0	0	0	1	0	0	0	17952	1780	62	5	1656	5	ZNF334	20	45131588	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	880	45131588	17893932	14328	37830											
ZNF334	55713	broad.mit.edu	37	chr20	45132871	45132871	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtagttctgatttgAgaattcctccactatccatg	9	14	8	10	0	1	2	0	2	1	1	4	3	4	2	4	1	0	2	4	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45132871A>T	ENST00000457685.2	-	5	1432	c.109T>A	c.(109-111)Tca>Aca	p.S37T	ZNF334_ENST00000347606.4_Missense_Mutation_p.S75T|ZNF334_ENST00000593880.1_Missense_Mutation_p.S98T			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	75	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTCTGATTTGAGAATTCCTCC	0.413													T	45132871	A	T	45132871	3	4	364	1	0	0	0	0	1	0	0	0	17952	304	11	5	1827	5	ZNF334	20	45132871	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1283	45132871	17892649	14329	37831											
EYA2	2139	broad.mit.edu	37	chr20	45809567	45809567	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttcctattgagaacatctAcagtgcaaccaagacaggta	14	10	8	9	0	1	2	0	1	1	2	2	3	2	2	2	1	4	3	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:45809567A>G	ENST00000327619.5	+	14	1792	c.1418A>G	c.(1417-1419)tAc>tGc	p.Y473C	EYA2_ENST00000317304.6_Missense_Mutation_p.Y443C|EYA2_ENST00000357410.3_Intron	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	473					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				GAGAACATCTACAGTGCAACC	0.527													G	45809567	A	G	45809567	3	3	364	1	0	0	0	0	1	0	0	0	5371	391	14	3	1468	3	EYA2	20	45809567	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	676696	45809567	17215953	14330	37832											
NCOA3	8202	broad.mit.edu	37	chr20	46279728	46279728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctttcttgggtattagcaGggttttcttaatgctcaaat	8	18	8	7	0	4	0	1	0	3	0	4	0	4	0	0	2	2	4	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46279728G>T	ENST00000372004.3	+	20	3858	c.3642G>T	c.(3640-3642)caG>caT	p.Q1214H	NCOA3_ENST00000371998.3_Missense_Mutation_p.Q1218H|NCOA3_ENST00000341724.6_Missense_Mutation_p.Q1144H|NCOA3_ENST00000371997.3_Missense_Mutation_p.Q1209H	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1218	Acetyltransferase.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGTATTAGCAGGGTTTTCTTA	0.453													T	46279728	G	T	46279728	3	4	364	1	0	0	0	0	1	0	0	0	10306	1014	35	4	3754	4	NCOA3	20	46279728	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	470161	46279728	16745792	14331	37833											
SULF2	55959	broad.mit.edu	37	chr20	46292287	46292287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgtcgttgttctgcaggcGcttgagcagcttgcggagtt	4	13	15	9	4	1	1	0	1	1	0	2	2	1	2	0	2	4	7	0	2	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46292287G>A	ENST00000359930.4	-	16	2988	c.2137C>T	c.(2137-2139)Cgc>Tgc	p.R713C	SULF2_ENST00000467815.1_Missense_Mutation_p.R713C|SULF2_ENST00000484875.1_Missense_Mutation_p.R713C|SULF2_ENST00000361612.4_Missense_Mutation_p.R713C	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	713					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TTCTGCAGGCGCTTGAGCAGC	0.607											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	46292287	G	A	46292287	3	1	364	1	0	0	0	0	1	0	0	0	15467	1087	38	1	499	1	SULF2	20	46292287	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12559	46292287	16733233	14332	37834											
SULF2	55959	broad.mit.edu	37	chr20	46318928	46318928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggctgaatcctcagggcCgtggggggctgcatggctga	5	8	19	9	1	1	2	1	2	0	0	2	2	2	2	2	7	1	4	2	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:46318928C>T	ENST00000359930.4	-	5	1530	c.679G>A	c.(679-681)Ggc>Agc	p.G227S	SULF2_ENST00000467815.1_Missense_Mutation_p.G227S|SULF2_ENST00000484875.1_Missense_Mutation_p.G227S|SULF2_ENST00000361612.4_Missense_Mutation_p.G227S	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2	227					bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						TCCTCAGGGCCGTGGGGGGCT	0.567													T	46318928	C	T	46318928	3	4	364	1	0	0	0	0	1	0	0	0	15467	652	23	1	2001	1	SULF2	20	46318928	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26641	46318928	16706592	14333	37835											
PREX1	57580	broad.mit.edu	37	chr20	47242458	47242458	+	Missense_Mutation	SNP	G	G	A																															caccggcggctggcagaggcGgtagaggctggggatggagg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242458G>A	ENST00000371941.3	-	40	4967	c.4945C>T	c.(4945-4947)Cgc>Tgc	p.R1649C	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1649					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			TGGCAGAGGCGGTAGAGGCTG	0.587													A	47242458	G	A	47242458	3	1	364	1	0	0	0	0	1	0	0	0	12562	1116	39	1	38	1	PREX1	20	47242458	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	923530	47242458	15783062	14334	37836	115	2									
PREX1	57580	broad.mit.edu	37	chr20	47242464	47242464	+	Splice_Site	SNP	G	G	T																															cggctggcagaggcggtagaGgctggggatggaggcaaaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47242464G>T	ENST00000371941.3	-	40	4961	c.4939C>A	c.(4939-4941)Ctc>Atc	p.L1647I	PREX1_ENST00000396220.1_3'UTR	NM_020820.3	NP_065871	Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	1647					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			AGGCGGTAGAGGCTGGGGATG	0.582													T	47242464	G	T	47242464	5	4	364	1	0	0	0	0	0	0	1	0	12562	1014	35	4	44	4	PREX1	20	47242464	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6	47242464	15783056	14335	37837	115	2									
PREX1	57580	broad.mit.edu	37	chr20	47269912	47269912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttaccagggcctcttcgCgccgactccggaatgcctgg	7	8	11	15	4	1	0	0	0	1	0	3	2	2	1	5	3	3	0	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47269912C>T	ENST00000396220.1	-	20	2355	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	PREX1_ENST00000371941.3_Missense_Mutation_p.R778H			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	778					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCTCTTCGCGCCGACTCCG	0.577													T	47269912	C	T	47269912	3	4	364	1	0	0	0	0	1	0	0	0	12562	768	27	1	2730	1	PREX1	20	47269912	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27448	47269912	15755608	14336	37838											
PREX1	57580	broad.mit.edu	37	chr20	47309244	47309244	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acattctccacctccatgacTtcagtgttgattcgacccct	8	13	5	15	1	2	2	1	2	1	0	5	3	3	2	5	0	0	1	5	0	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47309244T>G	ENST00000396220.1	-	8	1024	c.1002A>C	c.(1000-1002)gaA>gaC	p.E334D	PREX1_ENST00000371941.3_Missense_Mutation_p.E334D			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	334	PH.				actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			CCTCCATGACTTCAGTGTTGA	0.577													G	47309244	T	G	47309244	3	3	364	1	0	0	0	0	1	0	0	0	12562	1606	56	5	4109	5	PREX1	20	47309244	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39332	47309244	15716276	14337	37839											
STAU1	6780	broad.mit.edu	37	chr20	47734473	47734473	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctatcatggcagttacCgtggccttggcaggattcgg	6	10	15	10	3	1	0	1	0	0	0	2	1	1	1	2	6	1	4	2	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47734473C>A	ENST00000371828.3	-	11	1612	c.1125G>T	c.(1123-1125)acG>acT	p.T375T	STAU1_ENST00000371856.2_Silent_p.T450T|STAU1_ENST00000340954.7_Silent_p.T369T|STAU1_ENST00000347458.5_Silent_p.T369T|STAU1_ENST00000371792.1_Silent_p.T367T|STAU1_ENST00000360426.4_Silent_p.T369T|STAU1_ENST00000371802.1_Silent_p.T375T	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	450				QPTKPALKSEEKTPIKKPGDGRKVTFFEPGSGD -> SHQT RTQVRGEDTHKETRGWKKSNLFLNLALGM (in Ref. 2).		microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			TGGCAGTTACCGTGGCCTTGG	0.542													A	47734473	C	A	47734473	2	1	364	1	0	0	0	0	0	0	0	1	15368	639	23	4		4	STAU1	20	47734473	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	425229	47734473	15291047	14338	37840											
STAU1	6780	broad.mit.edu	37	chr20	47736634	47736634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccttcttgttggtgcccGttccttctgcagtgtggttt	2	17	10	12	1	2	0	0	0	2	0	3	0	3	0	4	2	2	4	4	2	0	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47736634G>A	ENST00000371828.3	-	9	1260	c.773C>T	c.(772-774)aCg>aTg	p.T258M	STAU1_ENST00000371856.2_Missense_Mutation_p.T333M|STAU1_ENST00000340954.7_Missense_Mutation_p.T252M|STAU1_ENST00000347458.5_Missense_Mutation_p.T252M|STAU1_ENST00000371792.1_Missense_Mutation_p.T250M|STAU1_ENST00000360426.4_Missense_Mutation_p.T252M|STAU1_ENST00000371802.1_Missense_Mutation_p.T258M	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	333						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			GTTGGTGCCCGTTCCTTCTGC	0.527													A	47736634	G	A	47736634	3	1	364	1	0	0	0	0	1	0	0	0	15368	1145	40	1	759	1	STAU1	20	47736634	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2161	47736634	15288886	14339	37841											
DDX27	55661	broad.mit.edu	37	chr20	47850160	47850160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccggatatttgtgaacaGcaacacagatgtggctccct	10	11	10	10	1	0	2	0	1	0	1	2	3	2	3	2	2	3	2	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47850160G>A	ENST00000371764.4	+	11	1289	c.1280G>A	c.(1279-1281)aGc>aAc	p.S427N	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	427						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTTGTGAACAGCAACACAGAT	0.557													A	47850160	G	A	47850160	3	1	364	1	0	0	0	0	1	0	0	0	4388	971	34	2	1322	2	DDX27	20	47850160	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113526	47850160	15175360	14340	37842											
DDX27	55661	broad.mit.edu	37	chr20	47858511	47858512	+	Frame_Shift_Ins	INS	-	-	G																															atgaaggatgccaaaaaaaaINSgggggagatgacagtgagtg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858511_47858512insG	ENST00000371764.4	+	17	2081_2082	c.2072_2073insG	c.(2071-2076)aaggggfs	p.KG691fs	ZNFX1_ENST00000469991.1_Intron|ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	691						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCCAAAAAAAAGGGGGAGATGA	0.51													G	47858512	-	G	47858511	7	5	364	1	0	1	1	0	0	0	0	0	4388	72	3	0	2138	0	DDX27	20	47858511	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	8351	47858511	15167009	14341	37843											
DDX27	55661	broad.mit.edu	37	chr20	47858647	47858647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtctcagtttgaaatcCtcaaggcgcagatgtttgct	11	12	10	8	1	2	2	2	1	1	1	4	2	3	2	1	2	1	4	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47858647C>A	ENST00000371764.4	+	18	2122	c.2113C>A	c.(2113-2115)Ctc>Atc	p.L705I	ZNFX1_ENST00000371754.4_Intron|DDX27_ENST00000484427.1_3'UTR|ZNFX1_ENST00000469991.1_Intron	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	705						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GTTTGAAATCCTCAAGGCGCA	0.602													A	47858647	C	A	47858647	3	1	364	1	0	0	0	0	1	0	0	0	4388	681	24	4	2183	4	DDX27	20	47858647	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	136	47858647	15166873	14342	37844											
ZNFX1	57169	broad.mit.edu	37	chr20	47865567	47865567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaaacaaggggacaccGgtgcccttcctgacagatga	13	5	12	11	1	0	3	0	2	0	1	1	5	1	4	3	3	3	1	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47865567G>A	ENST00000396105.1	-	14	4240	c.3994C>T	c.(3994-3996)Cgg>Tgg	p.R1332W	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1332W	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1332							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGGGGACACCGGTGCCCTTCC	0.552													A	47865567	G	A	47865567	3	1	364	1	0	0	0	0	1	0	0	0	18304	1115	39	1	1766	1	ZNFX1	20	47865567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6920	47865567	15159953	14343	37845											
ZNFX1	57169	broad.mit.edu	37	chr20	47866162	47866162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctaccacaaagtgagcCtcatgctggttctgatggct	9	11	10	11	0	3	2	1	2	2	0	3	2	3	2	2	2	4	4	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47866162C>A	ENST00000396105.1	-	14	3645	c.3399G>T	c.(3397-3399)gaG>gaT	p.E1133D	ZNFX1_ENST00000371754.4_Intron|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E1133D	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1133							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CAAAGTGAGCCTCATGCTGGT	0.502													A	47866162	C	A	47866162	3	1	364	1	0	0	0	0	1	0	0	0	18304	680	24	4	2361	4	ZNFX1	20	47866162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	595	47866162	15159358	14344	37846											
ZNFX1	57169	broad.mit.edu	37	chr20	47868156	47868156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaatttcagggcacatacGgtgctgaaaaaacacatgca	15	7	10	9	1	1	1	1	1	0	0	1	1	1	1	0	3	4	4	0	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:47868156G>A	ENST00000396105.1	-	13	3466	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	ZNFX1_ENST00000371754.4_Missense_Mutation_p.R1074C|ZNFX1_ENST00000371752.1_Missense_Mutation_p.R1074C	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1074							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GGGCACATACGGTGCTGAAAA	0.433													A	47868156	G	A	47868156	3	1	364	1	0	0	0	0	1	0	0	0	18304	1116	39	1	2544	1	ZNFX1	20	47868156	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1994	47868156	15157364	14345	37847											
PTGIS	5740	broad.mit.edu	37	chr20	48140673	48140673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctcctccaggtgcagcagGtaactctccagccatttgct	8	11	8	14	0	2	0	0	0	2	0	5	0	3	0	4	2	5	4	4	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48140673G>A	ENST00000244043.4	-	6	806	c.777C>T	c.(775-777)taC>taT	p.Y259Y	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	259					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Phenylbutazone(DB00812)	GGTGCAGCAGGTAACTCTCCA	0.617													A	48140673	G	A	48140673	2	1	364	1	0	0	0	0	0	0	0	1	12838	1256	44	2		2	PTGIS	20	48140673	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	272517	48140673	14884847	14346	37848											
TMEM189	387521	broad.mit.edu	37	chr20	48699376	48699376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttagacatcattaggcgccGaagctcttgcaggacaactt	11	11	9	10	2	2	1	1	0	1	1	2	3	2	2	1	2	3	2	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48699376G>A	ENST00000557021.1	-	8	1202	c.1042C>T	c.(1042-1044)Cgg>Tgg	p.R348W	UBE2V1_ENST00000371657.5_Missense_Mutation_p.R83W|UBE2V1_ENST00000415862.2_Missense_Mutation_p.R81W|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.R348W|UBE2V1_ENST00000371677.3_Missense_Mutation_p.R148W|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000420027.2_Missense_Mutation_p.R81W|UBE2V1_ENST00000340309.3_Missense_Mutation_p.R148W|UBE2V1_ENST00000371674.3_Missense_Mutation_p.R125W	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			ATTAGGCGCCGAAGCTCTTGC	0.443													A	48699376	G	A	48699376	3	1	364	1	0	0	0	0	1	0	0	0	16211	1057	37	1		1	TMEM189	20	48699376	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	558703	48699376	14326144	14347	37849											
TMEM189	387521	broad.mit.edu	37	chr20	48760145	48760145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcacagagcaccactcCtggaggcgcttgcctgcagg	9	6	13	13	1	1	1	1	0	0	1	2	3	2	3	3	4	3	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48760145C>A	ENST00000557021.1	-	2	295	c.135G>T	c.(133-135)caG>caT	p.Q45H	TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.Q45H|TMEM189_ENST00000371652.4_Missense_Mutation_p.Q45H|TMEM189_ENST00000371650.5_Missense_Mutation_p.Q45H	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			AGCACCACTCCTGGAGGCGCT	0.587													A	48760145	C	A	48760145	3	1	364	1	0	0	0	0	1	0	0	0	16211	680	24	4	697	4	TMEM189	20	48760145	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	60769	48760145	14265375	14348	37850											
CEBPB	1051	broad.mit.edu	37	chr20	48808604	48808604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcgcctcctccggccactGctagcgcggcccccgcgcgc	2	5	12	22	7	0	0	0	0	0	0	3	0	2	0	6	2	2	2	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:48808604G>A	ENST00000303004.3	+	1	1229	c.1034G>A	c.(1033-1035)tGc>tAc	p.C345Y		NM_005194.3	NP_005185.2	P17676	CEBPB_HUMAN	CCAAT/enhancer binding protein (C/EBP), beta	345					acute-phase response|immune response		sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|lung(1)	2			BRCA - Breast invasive adenocarcinoma(9;5.72e-08)|STAD - Stomach adenocarcinoma(23;0.19)			TCCGGCCACTGCTAgcgcggc	0.776													A	48808604	G	A	48808604	3	1	364	1	0	0	0	0	1	0	0	0	3230	1319	46	2	1036	2	CEBPB	20	48808604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48459	48808604	14216916	14349	37851											
FAM65C	140876	broad.mit.edu	37	chr20	49247380	49247380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaggaaccgcaacctcaccGacatggtggtcacctgcaag	12	5	10	14	2	2	0	2	0	0	0	2	2	2	1	4	3	3	2	4	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49247380G>A	ENST00000327979.2	-	2	416	c.5C>T	c.(4-6)tCg>tTg	p.S2L	FAM65C_ENST00000535356.1_Missense_Mutation_p.S6L|FAM65C_ENST00000045083.2_Missense_Mutation_p.S2L			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	2										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CAACCTCACCGACATGGTGGT	0.662													A	49247380	G	A	49247380	3	1	364	1	0	0	0	0	1	0	0	0	5651	1059	37	1	2919	1	FAM65C	20	49247380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	438776	49247380	13778140	14350	37852											
ADNP	23394	broad.mit.edu	37	chr20	49508536	49508536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatgttcctctgggttatcGttagagattttaggttcaac	9	16	9	7	1	2	1	1	0	1	1	4	2	3	1	1	2	1	4	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49508536G>A	ENST00000396029.3	-	5	3282	c.2715C>T	c.(2713-2715)aaC>aaT	p.N905N	ADNP_ENST00000349014.3_Silent_p.N905N|ADNP_ENST00000371602.4_Silent_p.N905N|ADNP_ENST00000396032.3_Silent_p.N905N	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	905						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						CTGGGTTATCGTTAGAGATTT	0.388													A	49508536	G	A	49508536	2	1	364	1	0	0	0	0	0	0	0	1	323	1136	40	1		1	ADNP	20	49508536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	261156	49508536	13516984	14351	37853											
DPM1	8813	broad.mit.edu	37	chr20	49551717	49551717	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttcaagaaagatactatTtcatttcctcccaacttgga	12	14	4	11	0	2	2	2	0	0	2	4	3	4	3	3	1	2	0	3	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49551717T>A	ENST00000371582.4	-	10	847	c.816A>T	c.(814-816)gaA>gaT	p.E272D	DPM1_ENST00000371583.5_Missense_Mutation_p.E240D|DPM1_ENST00000371588.5_Missense_Mutation_p.E245D|DPM1_ENST00000466152.1_5'UTR|RP5-914P20.5_ENST00000558899.2_RNA			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	245					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						AAGATACTATTTCATTTCCTC	0.284													A	49551717	T	A	49551717	3	1	364	1	0	0	0	0	1	0	0	0	4763	1838	64	5	51	5	DPM1	20	49551717	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	43181	49551717	13473803	14352	37854											
DPM1	8813	broad.mit.edu	37	chr20	49562425	49562425	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataataatgatgtagtttcCtgtggcatgtttcattccat	10	17	7	7	0	1	1	1	1	0	0	3	1	3	1	2	1	0	4	2	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:49562425C>A	ENST00000371582.4	-	4	362	c.331G>T	c.(331-333)Gga>Tga	p.G111*	DPM1_ENST00000371583.5_Nonsense_Mutation_p.G111*|DPM1_ENST00000371588.5_Nonsense_Mutation_p.G111*|DPM1_ENST00000466152.1_5'UTR			O60762	DPM1_HUMAN	dolichyl-phosphate mannosyltransferase polypeptide 1, catalytic subunit	111					C-terminal protein lipidation|dolichol metabolic process|dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|protein N-linked glycosylation via asparagine|protein O-linked mannosylation	dolichol-phosphate-mannose synthase complex|endoplasmic reticulum membrane|membrane fraction	dolichyl-phosphate beta-D-mannosyltransferase activity|dolichyl-phosphate-mannose-protein mannosyltransferase activity|protein binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	7						ATGTAGTTTCCTGTGGCATGT	0.323													A	49562425	C	A	49562425	4	1	364	1	0	0	0	0	0	1	0	0	4763	690	24	4	475	4	DPM1	20	49562425	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10708	49562425	13463095	14353	37855											
NFATC2	4773	broad.mit.edu	37	chr20	50071118	50071118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtaaacacaactttggactCggatgtaaagttctgccccg	12	10	9	10	2	1	0	0	0	1	0	2	2	1	2	2	2	3	3	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50071118C>T	ENST00000371564.3	-	6	2035	c.1816G>A	c.(1816-1818)Gag>Aag	p.E606K	NFATC2_ENST00000610033.1_Missense_Mutation_p.E387K|NFATC2_ENST00000609943.1_Missense_Mutation_p.E586K|NFATC2_ENST00000609507.1_Missense_Mutation_p.E387K|NFATC2_ENST00000414705.1_Missense_Mutation_p.E586K|NFATC2_ENST00000396009.3_Missense_Mutation_p.E606K	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	606					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					ACTTTGGACTCGGATGTAAAG	0.478													T	50071118	C	T	50071118	3	4	364	1	0	0	0	0	1	0	0	0	10438	893	31	1	1029	1	NFATC2	20	50071118	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	508693	50071118	12954402	14354	37856											
NFATC2	4773	broad.mit.edu	37	chr20	50140512	50140512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttctgcggccctaccctatCcggctctccgaatcggccgg	4	9	10	18	5	2	0	0	0	2	0	5	1	3	0	5	4	2	1	5	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50140512C>A	ENST00000371564.3	-	2	487	c.268G>T	c.(268-270)Gat>Tat	p.D90Y	NFATC2_ENST00000610033.1_Intron|NFATC2_ENST00000609943.1_Missense_Mutation_p.D70Y|NFATC2_ENST00000609507.1_Intron|NFATC2_ENST00000414705.1_Missense_Mutation_p.D70Y|NFATC2_ENST00000396009.3_Missense_Mutation_p.D90Y	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	90					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	p.D90Y(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCTACCCTATCCGGCTCTCCG	0.647													A	50140512	C	A	50140512	3	1	364	1	0	0	0	0	1	0	0	0	10438	855	30	4	2593	4	NFATC2	20	50140512	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69394	50140512	12885008	14355	37857											
ATP9A	10079	broad.mit.edu	37	chr20	50221543	50221543	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaacagcagcagcgccccGtacatgatggtgctccctgc	9	7	10	15	2	1	1	1	1	0	0	2	1	2	1	3	1	7	4	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50221543G>A	ENST00000338821.5	-	27	3084	c.2820C>T	c.(2818-2820)taC>taT	p.Y940Y	ATP9A_ENST00000311637.5_Silent_p.Y804Y|ATP9A_ENST00000402822.1_Silent_p.Y819Y	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	940					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						GCAGCGCCCCGTACATGATGG	0.612													A	50221543	G	A	50221543	2	1	364	1	0	0	0	0	0	0	0	1	1203	1140	40	1		1	ATP9A	20	50221543	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	81031	50221543	12803977	14356	37858											
ATP9A	10079	broad.mit.edu	37	chr20	50273579	50273579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactcatacacgggagtcacGttgtggcagagcgcgatggc	9	7	15	10	4	2	1	2	0	0	1	2	4	2	2	0	3	2	2	0	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50273579G>A	ENST00000338821.5	-	14	1668	c.1404C>T	c.(1402-1404)aaC>aaT	p.N468N	ATP9A_ENST00000311637.5_Silent_p.N332N|ATP9A_ENST00000402822.1_Silent_p.N347N	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	468					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CGGGAGTCACGTTGTGGCAGA	0.627													A	50273579	G	A	50273579	2	1	364	1	0	0	0	0	0	0	0	1	1203	1136	40	1		1	ATP9A	20	50273579	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52036	50273579	12751941	14357	37859											
ATP9A	10079	broad.mit.edu	37	chr20	50292706	50292706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtattcatgacactccGgagttctctgccagtgtaaa	10	12	10	9	1	2	2	1	2	1	0	4	3	3	3	2	2	1	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50292706G>A	ENST00000338821.5	-	10	1105	c.841C>T	c.(841-843)Cgg>Tgg	p.R281W	ATP9A_ENST00000311637.5_Missense_Mutation_p.R145W|ATP9A_ENST00000402822.1_Missense_Mutation_p.R160W	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	281					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATGACACTCCGGAGTTCTCTG	0.443													A	50292706	G	A	50292706	3	1	364	1	0	0	0	0	1	0	0	0	1203	1115	39	1	2378	1	ATP9A	20	50292706	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19127	50292706	12732814	14358	37860											
SALL4	57167	broad.mit.edu	37	chr20	50401032	50401032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtcttcacggccagaccGccattgagcatgctggtgta	7	11	12	11	2	2	2	1	1	1	1	2	2	2	2	3	3	2	3	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50401032G>A	ENST00000217086.4	-	4	3045	c.2934C>T	c.(2932-2934)ggC>ggT	p.G978G	SALL4_ENST00000371539.3_Silent_p.G201G|SALL4_ENST00000395997.3_Silent_p.G541G	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	978					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CGGCCAGACCGCCATTGAGCA	0.542													A	50401032	G	A	50401032	2	1	364	1	0	0	0	0	0	0	0	1	13904	1074	38	1		1	SALL4	20	50401032	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108326	50401032	12624488	14359	37861											
SALL4	57167	broad.mit.edu	37	chr20	50406792	50406792	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctctgctgccctggcgctGcaggttaaaaggggcaggac	7	9	14	11	1	1	0	0	0	1	0	2	1	1	1	1	5	3	5	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50406792G>A	ENST00000217086.4	-	2	2341	c.2230C>T	c.(2230-2232)Cag>Tag	p.Q744*	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	744					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCCTGGCGCTGCAGGTTAAAA	0.592													A	50406792	G	A	50406792	4	1	364	1	0	0	0	0	0	1	0	0	13904	1328	46	2	943	2	SALL4	20	50406792	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5760	50406792	12618728	14360	37862											
SALL4	57167	broad.mit.edu	37	chr20	50407072	50407072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgttgggaatctgaccGcccatgtgcatccgaatatg	8	10	13	10	3	1	1	0	1	1	0	2	3	2	2	3	2	1	2	3	2	3	2	rs149008635	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50407072G>A	ENST00000217086.4	-	2	2061	c.1950C>T	c.(1948-1950)ggC>ggT	p.G650G	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	650					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAATCTGACCGCCCATGTGCA	0.552													A	50407072	G	A	50407072	2	1	364	1	0	0	0	0	0	0	0	1	13904	1074	38	1		1	SALL4	20	50407072	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	280	50407072	12618448	14361	37863											
ZFP64	55734	broad.mit.edu	37	chr20	50769213	50769213	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggacgatggtgttcgcctgGggcacctgatgcccaacgat	7	9	14	11	3	0	1	0	1	0	0	1	4	0	2	3	4	2	2	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:50769213G>A	ENST00000216923.4	-	6	1867	c.1518C>T	c.(1516-1518)ccC>ccT	p.P506P	ZFP64_ENST00000346617.4_Silent_p.P452P|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Silent_p.P504P|ZFP64_ENST00000477786.1_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	506					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGTTCGCCTGGGGCACCTGAT	0.652													A	50769213	G	A	50769213	2	1	364	1	0	0	0	0	0	0	0	1	17753	1219	43	2		2	ZFP64	20	50769213	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	362141	50769213	12256307	14362	37864											
ZNF217	7764	broad.mit.edu	37	chr20	52198661	52198661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttttggtgtgcaccttGcggtgctcaattagactttc	5	18	10	8	1	1	1	1	0	0	1	2	1	1	1	1	2	3	3	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198661G>A	ENST00000371471.2	-	2	1130	c.705C>T	c.(703-705)cgC>cgT	p.R235R	ZNF217_ENST00000302342.3_Silent_p.R235R			O75362	ZN217_HUMAN	zinc finger protein 217	235					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGTGCACCTTGCGGTGCTCAA	0.517													A	52198661	G	A	52198661	2	1	364	1	0	0	0	0	0	0	0	1	17873	1306	46	2		2	ZNF217	20	52198661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1429448	52198661	10826859	14363	37865											
ZNF217	7764	broad.mit.edu	37	chr20	52198934	52198934	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgtgttctcatgtggatCtcaacatcaaaagcgactct	10	14	8	9	1	4	0	3	0	3	0	6	2	4	1	0	1	2	1	0	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:52198934C>A	ENST00000371471.2	-	2	857	c.432G>T	c.(430-432)gaG>gaT	p.E144D	ZNF217_ENST00000302342.3_Missense_Mutation_p.E144D			O75362	ZN217_HUMAN	zinc finger protein 217	144					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TCATGTGGATCTCAACATCAA	0.423													A	52198934	C	A	52198934	3	1	364	1	0	0	0	0	1	0	0	0	17873	912	32	4	2730	4	ZNF217	20	52198934	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	273	52198934	10826586	14364	37866											
AURKA	6790	broad.mit.edu	37	chr20	54961320	54961320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctagtttaccaggtgcCgatggcaggggctgcttgct	8	10	14	9	1	0	0	0	0	0	0	0	1	0	0	2	4	5	6	2	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:54961320C>T	ENST00000395909.4	-	5	877	c.312G>A	c.(310-312)tcG>tcA	p.S104S	AURKA_ENST00000312783.6_Silent_p.S104S|AURKA_ENST00000347343.2_Silent_p.S104S|AURKA_ENST00000371356.2_Silent_p.S104S|AURKA_ENST00000395914.1_Silent_p.S104S|AURKA_ENST00000395915.3_Silent_p.S104S|AURKA_ENST00000395911.1_Silent_p.S104S|AURKA_ENST00000395907.1_Silent_p.S104S|AURKA_ENST00000395913.3_Silent_p.S104S	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	104			S -> L (in dbSNP:rs2230743).		anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			TACCAGGTGCCGATGGCAGGG	0.463													T	54961320	C	T	54961320	2	4	364	1	0	0	0	0	0	0	0	1	1226	639	23	1		1	AURKA	20	54961320	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2762386	54961320	8064200	14365	37867											
RBM38	55544	broad.mit.edu	37	chr20	55982762	55982762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccagtacccatacgccGcctcgcctgccacggctgcc	7	6	9	19	4	0	1	0	1	0	0	1	1	0	1	7	1	4	2	7	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:55982762G>A	ENST00000356208.5	+	4	755	c.580G>A	c.(580-582)Gcc>Acc	p.A194T	RBM38_ENST00000440234.2_3'UTR|RBM38_ENST00000371219.2_Missense_Mutation_p.A113T	NM_017495.5	NP_059965.2	Q9H0Z9	RBM38_HUMAN	RNA binding motif protein 38	194					3'-UTR-mediated mRNA stabilization|cell cycle|cell cycle arrest|cell differentiation|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 transcription of p21 class mediator|mRNA processing|negative regulation of cell proliferation|regulation of RNA splicing|RNA splicing	cytosol|nucleus	mRNA 3'-UTR binding|mRNA binding|nucleotide binding|RNA binding			large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Lung NSC(12;0.00242)|all_lung(29;0.00767)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;1.55e-12)|Epithelial(14;9.49e-09)|all cancers(14;5.01e-08)			CCCATACGCCGCCTCGCCTGC	0.697													A	55982762	G	A	55982762	3	1	364	1	0	0	0	0	1	0	0	0	13220	1087	38	1	353	1	RBM38	20	55982762	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1021442	55982762	7042758	14366	37868											
CTCFL	140690	broad.mit.edu	37	chr20	56094301	56094301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttccgcagcagagtgaccGtacggaaggttttcaggcag	9	8	15	9	3	1	2	1	1	0	1	2	3	2	3	2	4	2	6	2	4	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56094301G>A	ENST00000608263.1	-	3	1548	c.887C>T	c.(886-888)aCg>aTg	p.T296M	CTCFL_ENST00000433949.3_Missense_Mutation_p.T91M|CTCFL_ENST00000608903.1_Missense_Mutation_p.T34M|CTCFL_ENST00000371196.2_Missense_Mutation_p.T296M|CTCFL_ENST00000608425.1_Missense_Mutation_p.T296M|CTCFL_ENST00000502686.2_Missense_Mutation_p.T34M|CTCFL_ENST00000539382.1_Missense_Mutation_p.T91M|CTCFL_ENST00000608158.1_Missense_Mutation_p.T296M|CTCFL_ENST00000432255.2_Missense_Mutation_p.T296M|CTCFL_ENST00000609232.1_Missense_Mutation_p.T296M|CTCFL_ENST00000429804.3_Missense_Mutation_p.T296M|CTCFL_ENST00000608440.1_Missense_Mutation_p.T296M|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000243914.3_Missense_Mutation_p.T296M|CTCFL_ENST00000481655.2_Missense_Mutation_p.T296M|CTCFL_ENST00000423479.3_Missense_Mutation_p.T296M|CTCFL_ENST00000422869.2_Missense_Mutation_p.T296M	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CAGAGTGACCGTACGGAAGGT	0.453													A	56094301	G	A	56094301	3	1	364	1	0	0	0	0	1	0	0	0	4034	1145	40	1	1136	1	CTCFL	20	56094301	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	111539	56094301	6931219	14367	37869											
PCK1	5105	broad.mit.edu	37	chr20	56137900	56137900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcctggaagcagtgggCgatggggagtttgtcaaatg	8	9	16	8	2	1	0	1	0	0	0	2	3	2	2	2	4	1	2	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56137900C>T	ENST00000319441.4	+	4	719	c.555C>T	c.(553-555)ggC>ggT	p.G185G	PCK1_ENST00000535860.1_Silent_p.G53G|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	185					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			AAGCAGTGGGCGATGGGGAGT	0.502													T	56137900	C	T	56137900	2	4	364	1	0	0	0	0	0	0	0	1	11657	755	27	1		1	PCK1	20	56137900	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43599	56137900	6887620	14368	37870											
PCK1	5105	broad.mit.edu	37	chr20	56138777	56138777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcctggatgaagtttgacGcacaaggtgactcttttaga	10	13	11	7	1	1	4	0	3	1	1	1	5	1	5	1	2	1	2	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56138777G>A	ENST00000319441.4	+	6	1119	c.955G>A	c.(955-957)Gca>Aca	p.A319T	PCK1_ENST00000535860.1_Missense_Mutation_p.A187T|PCK1_ENST00000543666.1_Intron	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	319					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			GAAGTTTGACGCACAAGGTGA	0.542													A	56138777	G	A	56138777	3	1	364	1	0	0	0	0	1	0	0	0	11657	1087	38	1	973	1	PCK1	20	56138777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	877	56138777	6886743	14369	37871											
PCK1	5105	broad.mit.edu	37	chr20	56140474	56140474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaacttcggcaaatacctgGcccactggcttagcatggcc	10	8	9	14	1	0	0	0	0	0	0	1	0	0	0	3	4	3	3	3	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:56140474G>A	ENST00000319441.4	+	10	1647	c.1483G>A	c.(1483-1485)Gcc>Acc	p.A495T	PCK1_ENST00000535860.1_3'UTR|PCK1_ENST00000543666.1_Missense_Mutation_p.A178T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	495					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			CAAATACCTGGCCCACTGGCT	0.512													A	56140474	G	A	56140474	3	1	364	1	0	0	0	0	1	0	0	0	11657	1203	42	2	1517	2	PCK1	20	56140474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1697	56140474	6885046	14370	37872											
APCDD1L	164284	broad.mit.edu	37	chr20	57036050	57036050	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtatcgggacttgagccAtcggtgggcctttgtccgat	5	11	16	9	3	0	1	0	1	0	0	3	3	1	2	3	5	1	1	3	5	1	3	rs143927973		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57036050A>T	ENST00000371149.3	-	4	1532	c.1302T>A	c.(1300-1302)gaT>gaA	p.D434E	APCDD1L_ENST00000439429.1_Missense_Mutation_p.D445E	NM_153360.1	NP_699191.1	Q8NCL9	APCDL_HUMAN	adenomatosis polyposis coli down-regulated 1-like	434						integral to membrane				large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(1)	18	Lung NSC(12;0.000856)|all_lung(29;0.0025)		BRCA - Breast invasive adenocarcinoma(13;5.6e-11)|Epithelial(14;1.67e-07)|all cancers(14;1.48e-06)			GACTTGAGCCATCGGTGGGCC	0.622													T	57036050	A	T	57036050	3	4	364	1	0	0	0	0	1	0	0	0	768	214	8	5	207	5	APCDD1L	20	57036050	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	895576	57036050	5989470	14371	37873											
SLMO2	51012	broad.mit.edu	37	chr20	57610078	57610078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgatcacttctctgcaaacGctgctgctgccattggagtc	8	11	9	13	2	2	0	1	0	1	0	4	2	2	1	1	1	5	4	1	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57610078G>A	ENST00000355937.4	-	6	747	c.569C>T	c.(568-570)gCg>gTg	p.A190V	SLMO2_ENST00000371033.5_Missense_Mutation_p.A160V	NM_016045.2	NP_057129.2	Q9Y3B1	SLMO2_HUMAN	slowmo homolog 2 (Drosophila)	190										endometrium(1)|lung(2)|skin(2)	5	all_lung(29;0.00711)		Colorectal(105;0.109)			CTCTGCAAACGCTGCTGCTGC	0.403													A	57610078	G	A	57610078	3	1	364	1	0	0	0	0	1	0	0	0	14845	1087	38	1	19	1	SLMO2	20	57610078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	574028	57610078	5415442	14372	37874											
ZNF831	128611	broad.mit.edu	37	chr20	57767536	57767536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctcttcttccactccGtccccactcagctctccacc	4	10	4	23	1	4	0	1	0	3	0	8	0	7	0	8	1	1	1	8	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767536G>A	ENST00000371030.2	+	1	1462	c.1462G>A	c.(1462-1464)Gtc>Atc	p.V488I		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	488						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CTTCCACTCCGTCCCCACTCA	0.692													A	57767536	G	A	57767536	3	1	364	1	0	0	0	0	1	0	0	0	18284	1145	40	1	1464	1	ZNF831	20	57767536	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	157458	57767536	5257984	14373	37875											
ZNF831	128611	broad.mit.edu	37	chr20	57767778	57767778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagacaggccgcggtggaGgacctgccaggcacccccat	8	4	14	15	2	1	1	1	0	0	1	1	3	1	3	5	5	1	1	5	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57767778G>T	ENST00000371030.2	+	1	1704	c.1704G>T	c.(1702-1704)gaG>gaT	p.E568D		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	568						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCGCGGTGGAGGACCTGCCAG	0.711													T	57767778	G	T	57767778	3	4	364	1	0	0	0	0	1	0	0	0	18284	991	35	4	1706	4	ZNF831	20	57767778	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	242	57767778	5257742	14374	37876											
ZNF831	128611	broad.mit.edu	37	chr20	57768129	57768129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccatgaggacatatcCgcaggggcaacgccagagcc	10	5	12	14	2	0	2	0	1	0	1	2	3	2	3	5	3	2	2	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:57768129C>T	ENST00000371030.2	+	1	2055	c.2055C>T	c.(2053-2055)tcC>tcT	p.S685S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	685						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					AGGACATATCCGCAGGGGCAA	0.622													T	57768129	C	T	57768129	2	4	364	1	0	0	0	0	0	0	0	1	18284	639	23	1		1	ZNF831	20	57768129	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	351	57768129	5257391	14375	37877											
PHACTR3	116154	broad.mit.edu	37	chr20	58342331	58342331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccaagccttagctggggCtgactccctggacagtcctc	6	9	10	16	0	0	1	0	1	0	0	4	2	3	2	4	3	2	2	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58342331C>T	ENST00000371015.1	+	5	1099	c.632C>T	c.(631-633)gCt>gTt	p.A211V	PHACTR3_ENST00000395639.4_Intron|PHACTR3_ENST00000355648.4_Missense_Mutation_p.A170V|PHACTR3_ENST00000359926.3_Missense_Mutation_p.A208V|PHACTR3_ENST00000395636.2_Missense_Mutation_p.A170V|PHACTR3_ENST00000541461.1_Missense_Mutation_p.A170V|PHACTR3_ENST00000361300.4_Intron	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	211						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			TTAGCTGGGGCTGACTCCCTG	0.622													T	58342331	C	T	58342331	3	4	364	1	0	0	0	0	1	0	0	0	11888	797	28	2	650	2	PHACTR3	20	58342331	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	574202	58342331	4683189	14376	37878											
SYCP2	10388	broad.mit.edu	37	chr20	58448959	58448959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caactttcacttgcacacagGaagtttttctcattgttttt	9	18	5	9	0	2	0	2	0	1	0	3	1	2	1	0	1	2	3	0	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:58448959G>T	ENST00000357552.3	-	35	3732	c.3507C>A	c.(3505-3507)ttC>ttA	p.F1169L	SYCP2_ENST00000371001.2_Missense_Mutation_p.F1169L			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	1169					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TTGCACACAGGAAGTTTTTCT	0.338													T	58448959	G	T	58448959	3	4	364	1	0	0	0	0	1	0	0	0	15529	1165	41	4	1129	4	SYCP2	20	58448959	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106628	58448959	4576561	14377	37879											
CDH4	1002	broad.mit.edu	37	chr20	60427860	60427860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacaaggtggagaaccccatCgacctgtacatctacgtcat	13	8	8	12	2	2	1	1	0	1	1	3	3	2	1	3	2	4	1	3	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60427860C>T	ENST00000360469.5	+	6	871	c.783C>T	c.(781-783)atC>atT	p.I261I	CDH4_ENST00000543233.1_Silent_p.I187I	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	261	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			AGAACCCCATCGACCTGTACA	0.597													T	60427860	C	T	60427860	2	4	364	1	0	0	0	0	0	0	0	1	3142	874	31	1		1	CDH4	20	60427860	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1978901	60427860	2597660	14378	37880											
TAF4	6874	broad.mit.edu	37	chr20	60575278	60575278	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatacataacttactacatCtggatgtaattccgttatac	13	15	5	8	1	1	1	0	1	1	0	2	2	2	2	1	1	5	2	1	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575278C>A	ENST00000252996.4	-	11	2688	c.2689G>T	c.(2689-2691)Gat>Tat	p.D897Y		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.D897N(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			CTTACTACATCTGGATGTAAT	0.348													A	60575278	C	A	60575278	3	1	364	1	0	0	0	0	1	0	0	0	15623	913	32	4	588	4	TAF4	20	60575278	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	147418	60575278	2450242	14379	37881											
TAF4	6874	broad.mit.edu	37	chr20	60575310	60575310	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgttataccatgttttttaCctaaaggtcaggcaagaaaa	14	12	7	8	1	1	1	1	0	0	1	1	1	1	1	3	2	2	3	3	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575310C>T	ENST00000252996.4	-	11	2656	c.2657G>A	c.(2656-2658)gGt>gAt	p.G886D		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ATGTTTTTTACCTAAAGGTCA	0.353													T	60575310	C	T	60575310	5	4	364	1	0	0	0	0	0	0	1	0	15623	521	18	2	620	2	TAF4	20	60575310	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32	60575310	2450210	14380	37882											
TAF4	6874	broad.mit.edu	37	chr20	60575608	60575608	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattaaacaccaacgtacCtatttctaatattcttctct	12	16	2	11	1	4	0	1	0	3	0	5	0	4	0	2	0	3	1	2	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60575608C>A	ENST00000252996.4	-	10	2655	c.2656G>T	c.(2656-2658)Ggt>Tgt	p.G886C		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			ACCAACGTACCTATTTCTAAT	0.478													A	60575608	C	A	60575608	5	1	364	1	0	0	0	0	0	0	1	0	15623	695	24	4	625	4	TAF4	20	60575608	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	298	60575608	2449912	14381	37883											
PSMA7	5688	broad.mit.edu	37	chr20	60718345	60718345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgagaagacggtgatggcGcggtcgtagctcatgccggc	7	6	18	10	6	1	3	1	1	0	2	2	4	1	3	1	5	2	2	1	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60718345G>A	ENST00000370873.4	-	1	141	c.15C>T	c.(13-15)cgC>cgT	p.R5R	PSMA7_ENST00000484488.1_5'UTR|PSMA7_ENST00000370858.3_Silent_p.R5R	NM_002792.3	NP_002783.1	O14818	PSA7_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 7	5					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	identical protein binding|threonine-type endopeptidase activity			large_intestine(1)|lung(2)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.28e-07)			CGGTGATGGCGCGGTCGTAGC	0.736													A	60718345	G	A	60718345	2	1	364	1	0	0	0	0	0	0	0	1	12757	1074	38	1		1	PSMA7	20	60718345	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	142737	60718345	2307175	14382	37884											
OSBPL2	9885	broad.mit.edu	37	chr20	60859101	60859101	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaatcccatttaattacaGcaaaaagaagctctttatga	19	11	4	7	0	1	2	0	1	1	1	2	2	2	2	1	0	3	2	1	0	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60859101G>T	ENST00000313733.3	+	10	1074		c.e10-1		OSBPL2_ENST00000439951.2_Splice_Site|OSBPL2_ENST00000358053.2_Splice_Site	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2						lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			TTTAATTACAGCAAAAAGAAG	0.388													T	60859101	G	T	60859101	5	4	364	1	0	0	0	0	0	0	1	0	11354	985	34	4	906	4	OSBPL2	20	60859101	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140756	60859101	2166419	14383	37885											
ADRM1	11047	broad.mit.edu	37	chr20	60881369	60881369	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcggccacgaactctctgcGctaggcggtaactgtcacat	9	8	11	13	4	2	0	1	0	1	0	3	1	2	0	1	3	4	2	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60881369G>A	ENST00000253003.2	+	4	493	c.447G>A	c.(445-447)gcG>gcA	p.A149A	RP11-157P1.4_ENST00000414042.1_RNA|ADRM1_ENST00000462554.1_3'UTR	NM_007002.2|NM_175573.1	NP_008933.2|NP_783163.1	Q16186	ADRM1_HUMAN	adhesion regulating molecule 1	149	Gly-rich.				proteasome assembly|transcription elongation from RNA polymerase II promoter	cytoplasm|integral to plasma membrane|membrane fraction|nucleus|proteasome complex	endopeptidase activator activity|protease binding|proteasome binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|urinary_tract(1)	5	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;2.51e-06)			AACTCTCTGCGCTAGGCGGTA	0.597													A	60881369	G	A	60881369	2	1	364	1	0	0	0	0	0	0	0	1	345	1074	38	1		1	ADRM1	20	60881369	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22268	60881369	2144151	14384	37886											
LAMA5	3911	broad.mit.edu	37	chr20	60887030	60887030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaccatcggcgaagcccGcttgagttttcacttcagtc	7	10	11	13	3	2	1	2	1	0	0	4	2	2	1	2	2	1	3	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887030G>A	ENST00000252999.3	-	70	9647	c.9581C>T	c.(9580-9582)gCg>gTg	p.A3194V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3194	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCGAAGCCCGCTTGAGTTTT	0.647													A	60887030	G	A	60887030	3	1	364	1	0	0	0	0	1	0	0	0	8668	1087	38	1	1550	1	LAMA5	20	60887030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5661	60887030	2138490	14385	37887											
LAMA5	3911	broad.mit.edu	37	chr20	60887095	60887095	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgctgcagggacacctgGcatagcccatcctggggacg	7	6	13	15	1	0	0	0	0	0	0	1	2	1	2	4	4	3	3	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60887095G>T	ENST00000252999.3	-	70	9582	c.9516C>A	c.(9514-9516)tgC>tgA	p.C3172*		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3172	Laminin G-like 3.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGGACACCTGGCATAGCCCAT	0.662													T	60887095	G	T	60887095	4	4	364	1	0	0	0	0	0	1	0	0	8668	1195	42	4	1615	4	LAMA5	20	60887095	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65	60887095	2138425	14386	37888											
LAMA5	3911	broad.mit.edu	37	chr20	60902974	60902974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgccaggcgcagtgcccGcctcgtgacagtcacagggg	8	4	14	15	4	1	1	1	1	0	0	2	1	1	1	3	3	1	1	3	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60902974G>A	ENST00000252999.3	-	36	4811	c.4745C>T	c.(4744-4746)gCg>gTg	p.A1582V		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1582	Laminin EGF-like 15.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGCAGTGCCCGCCTCGTGACA	0.667													A	60902974	G	A	60902974	3	1	364	1	0	0	0	0	1	0	0	0	8668	1087	38	1	6522	1	LAMA5	20	60902974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15879	60902974	2122546	14387	37889											
LAMA5	3911	broad.mit.edu	37	chr20	60903418	60903418	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggtctggggctggcacaGcaggcagtcgggcgggatgg	8	5	20	8	2	1	0	0	0	1	0	2	1	1	1	0	8	1	4	0	8	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60903418G>T	ENST00000252999.3	-	35	4597	c.4531C>A	c.(4531-4533)Ctg>Atg	p.L1511M		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1511	Laminin EGF-like 13.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGCTGGCACAGCAGGCAGTCG	0.677													T	60903418	G	T	60903418	3	4	364	1	0	0	0	0	1	0	0	0	8668	962	34	4	6740	4	LAMA5	20	60903418	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	444	60903418	2122102	14388	37890											
LAMA5	3911	broad.mit.edu	37	chr20	60907503	60907503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagacagccaggtggtcCtgggtatcccgggcagtgcc	7	7	16	11	1	0	1	0	0	0	1	2	2	2	2	4	5	2	2	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60907503C>A	ENST00000252999.3	-	28	3543	c.3477G>T	c.(3475-3477)caG>caT	p.Q1159H		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1159	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTGGTCCTGGGTATCCC	0.697													A	60907503	C	A	60907503	3	1	364	1	0	0	0	0	1	0	0	0	8668	680	24	4	7822	4	LAMA5	20	60907503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4085	60907503	2118017	14389	37891											
LAMA5	3911	broad.mit.edu	37	chr20	60909037	60909037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccccccggttgacgtatCggaagacgagccagaaaagg	11	5	14	11	4	0	3	0	1	0	2	1	5	0	4	4	4	1	2	4	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:60909037C>T	ENST00000252999.3	-	23	2864	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	933	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTTGACGTATCGGAAGACGAG	0.667													T	60909037	C	T	60909037	3	4	364	1	0	0	0	0	1	0	0	0	8668	884	31	1	8521	1	LAMA5	20	60909037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1534	60909037	2116483	14390	37892											
SLCO4A1	28231	broad.mit.edu	37	chr20	61291876	61291876	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatccttggttaccctcggCagctgccaggtgggtttccc	4	11	11	15	1	0	0	0	0	0	0	3	0	2	0	5	4	3	4	5	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61291876C>T	ENST00000217159.1	+	4	1205	c.1000C>T	c.(1000-1002)Cag>Tag	p.Q334*	SLCO4A1_ENST00000370507.1_Nonsense_Mutation_p.Q334*	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	334					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTACCCTCGGCAGCTGCCAGG	0.637													T	61291876	C	T	61291876	4	4	364	1	0	0	0	0	0	1	0	0	14823	711	25	2	1010	2	SLCO4A1	20	61291876	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382839	61291876	1733644	14391	37893											
SLCO4A1	28231	broad.mit.edu	37	chr20	61292446	61292446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgcggtcatgagagcggCggaaatgcaccagttgaagg	11	6	15	9	4	1	2	1	2	0	1	1	4	1	3	1	4	3	2	1	4	3	2	rs142725476		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61292446C>T	ENST00000217159.1	+	5	1245	c.1040C>T	c.(1039-1041)gCg>gTg	p.A347V	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.A347V	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	347					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			ATGAGAGCGGCGGAAATGCAC	0.647													T	61292446	C	T	61292446	3	4	364	1	0	0	0	0	1	0	0	0	14823	768	27	1	1054	1	SLCO4A1	20	61292446	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	570	61292446	1733074	14392	37894											
SLCO4A1	28231	broad.mit.edu	37	chr20	61299185	61299185	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actacagccctgtgtgcggcTcggacggcctcatgtacttc	6	10	11	14	3	1	0	1	0	0	0	3	1	1	1	2	3	4	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61299185T>G	ENST00000217159.1	+	8	1766	c.1561T>G	c.(1561-1563)Tcg>Gcg	p.S521A	SLCO4A1_ENST00000370507.1_Missense_Mutation_p.S521A|SLCO4A1_ENST00000470412.1_3'UTR	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	521	Kazal-like.				sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TGTGTGCGGCTCGGACGGCCT	0.657													G	61299185	T	G	61299185	3	3	364	1	0	0	0	0	1	0	0	0	14823	1551	54	5	1587	5	SLCO4A1	20	61299185	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6739	61299185	1726335	14393	37895											
NTSR1	4923	broad.mit.edu	37	chr20	61391456	61391456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcaaccccatcctgtacaAcctcgtctctgccaacttcc	9	10	3	19	1	2	0	1	0	1	0	6	0	4	0	6	0	5	1	6	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61391456A>G	ENST00000370501.3	+	4	1465	c.1094A>G	c.(1093-1095)aAc>aGc	p.N365S	NTSR1_ENST00000482259.1_3'UTR	NM_002531.2	NP_002522.2	P30989	NTR1_HUMAN	neurotensin receptor 1 (high affinity)	365						endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	neurotensin receptor activity, G-protein coupled			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(16)|prostate(1)|skin(3)	27	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;3.63e-06)			ATCCTGTACAACCTCGTCTCT	0.587													G	61391456	A	G	61391456	3	3	364	1	0	0	0	0	1	0	0	0	10786	43	2	3	1108	3	NTSR1	20	61391456	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	92271	61391456	1634064	14394	37896											
COL9A3	1299	broad.mit.edu	37	chr20	61458647	61458647	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggccccaagggtgacctcGtaagtgagagggaagttggt	9	7	17	8	2	0	2	0	2	0	1	1	4	0	3	3	4	0	2	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61458647G>A	ENST00000343916.3	+	16	849		c.e16+1			NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance	collagen type IX				breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					GGGTGACCTCGTAAGTGAGAG	0.597													A	61458647	G	A	61458647	5	1	364	1	0	0	0	0	0	0	1	0	3740	1159	40	1	909	1	COL9A3	20	61458647	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67191	61458647	1566873	14395	37897											
TCFL5	10732	broad.mit.edu	37	chr20	61488955	61488955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caactgacgcattctactccGattcctcttcagtgcttgtt	7	15	6	13	2	3	1	1	1	2	0	5	2	5	1	2	0	3	3	2	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61488955G>A	ENST00000335351.3	-	4	1122	c.1030C>T	c.(1030-1032)Cgg>Tgg	p.R344W	TCFL5_ENST00000217162.5_Missense_Mutation_p.R296W	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	344					cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					ATTCTACTCCGATTCCTCTTC	0.443													A	61488955	G	A	61488955	3	1	364	1	0	0	0	0	1	0	0	0	15799	1057	37	1	484	1	TCFL5	20	61488955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30308	61488955	1536565	14396	37898											
DIDO1	11083	broad.mit.edu	37	chr20	61512503	61512503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactggcatgggcgcctggCccacgaggccacccctggaa	7	4	15	15	2	0	0	0	0	0	0	0	3	0	2	5	6	0	1	5	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61512503C>A	ENST00000266070.4	-	16	5130	c.4805G>T	c.(4804-4806)gGc>gTc	p.G1602V	DIDO1_ENST00000395343.1_Missense_Mutation_p.G1602V	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1602					apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					GGGCGCCTGGCCCACGAGGCC	0.701													A	61512503	C	A	61512503	3	1	364	1	0	0	0	0	1	0	0	0	4561	739	26	4	1921	4	DIDO1	20	61512503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23548	61512503	1513017	14397	37899											
YTHDF1	54915	broad.mit.edu	37	chr20	61828083	61828083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtttgtttcgactctgccGttcctgtaaaaagaaaaaac	12	14	7	8	2	1	1	0	0	1	1	3	2	2	1	2	0	2	4	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61828083G>A	ENST00000370339.3	-	5	1998	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W	YTHDF1_ENST00000370334.4_Missense_Mutation_p.R46W|YTHDF1_ENST00000370333.4_Missense_Mutation_p.R503W	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	553										NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						CGACTCTGCCGTTCCTGTAAA	0.448													A	61828083	G	A	61828083	3	1	364	1	0	0	0	0	1	0	0	0	17600	1144	40	1	26	1	YTHDF1	20	61828083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315580	61828083	1197437	14398	37900											
BIRC7	79444	broad.mit.edu	37	chr20	61870847	61870847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaccgcgccgtgtccatcGtctttgtgccgtgcggccac	3	10	13	15	6	1	0	0	0	1	0	3	1	2	1	5	2	2	0	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61870847G>A	ENST00000217169.3	+	6	1001	c.787G>A	c.(787-789)Gtc>Atc	p.V263I	BIRC7_ENST00000342412.6_Missense_Mutation_p.V245I|BIRC7_ENST00000395306.1_Missense_Mutation_p.V158I	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	263					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CGTGTCCATCGTCTTTGTGCC	0.697													A	61870847	G	A	61870847	3	1	364	1	0	0	0	0	1	0	0	0	1445	1145	40	1	809	1	BIRC7	20	61870847	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42764	61870847	1154673	14399	37901											
COL20A1	57642	broad.mit.edu	37	chr20	61937231	61937231	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttgtgtctccctgcAgttgaggatctgaagagtag	7	13	13	8	0	3	3	0	2	3	1	4	4	3	4	1	2	1	4	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61937231A>G	ENST00000422202.1	+	4	405		c.e4-1		COL20A1_ENST00000326996.6_Splice_Site|COL20A1_ENST00000435874.1_Splice_Site|COL20A1_ENST00000358894.6_Splice_Site			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1						cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GTCTCCCTGCAGTTGAGGATC	0.657													G	61937231	A	G	61937231	5	3	364	1	0	0	0	0	0	0	1	0	3710	202	7	3	350	3	COL20A1	20	61937231	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	66384	61937231	1088289	14400	37902											
CHRNA4	1137	broad.mit.edu	37	chr20	61978114	61978114	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatgccagccagccagggCggcaggaagaggcccaccgt	10	3	14	14	2	1	1	1	0	0	1	1	2	1	2	5	4	3	1	5	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61978114C>T	ENST00000370263.4	-	6	2081	c.1860G>A	c.(1858-1860)ccG>ccA	p.P620P	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	620					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CCAGCCAGGGCGGCAGGAAGA	0.672													T	61978114	C	T	61978114	2	4	364	1	0	0	0	0	0	0	0	1	3415	755	27	1		1	CHRNA4	20	61978114	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40883	61978114	1047406	14401	37903											
CHRNA4	1137	broad.mit.edu	37	chr20	61981023	61981023	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgagaagtctgtgtcttcGgccttcaggtggtctgcaat	7	12	12	10	2	4	1	1	0	3	1	5	2	4	1	2	3	1	1	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981023G>A	ENST00000370263.4	-	5	1961	c.1740C>T	c.(1738-1740)gcC>gcT	p.A580A	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	580					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	CTGTGTCTTCGGCCTTCAGGT	0.662													A	61981023	G	A	61981023	2	1	364	1	0	0	0	0	0	0	0	1	3415	1103	39	1		1	CHRNA4	20	61981023	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2909	61981023	1044497	14402	37904											
CHRNA4	1137	broad.mit.edu	37	chr20	61981752	61981752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccaggtgggcatggtgtgCgtgcgtggcgagcggtggtg	4	8	21	8	4	0	0	0	0	0	0	0	1	0	0	1	6	3	1	1	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:61981752C>T	ENST00000370263.4	-	5	1232	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	337					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	GCATGGTGTGCGTGCGTGGCG	0.622													T	61981752	C	T	61981752	2	4	364	1	0	0	0	0	0	0	0	1	3415	755	27	1		1	CHRNA4	20	61981752	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	729	61981752	1043768	14403	37905											
KCNQ2	3785	broad.mit.edu	37	chr20	62071046	62071046	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgtccccgtagccaaTggtggtcagcgtgatctgtg	6	12	13	10	2	2	1	1	1	1	0	3	1	3	1	3	2	3	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62071046T>C	ENST00000354587.3	-	6	1008	c.832A>G	c.(832-834)Att>Gtt	p.I278V	KCNQ2_ENST00000359125.2_Missense_Mutation_p.I278V|KCNQ2_ENST00000360480.3_Missense_Mutation_p.I278V|KCNQ2_ENST00000344462.4_Missense_Mutation_p.I278V|KCNQ2_ENST00000344425.5_Missense_Mutation_p.I278V|KCNQ2_ENST00000359689.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000370224.1_Missense_Mutation_p.I278V|KCNQ2_ENST00000357249.2_Missense_Mutation_p.I278V			O43526	KCNQ2_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 2	278					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|liver(1)|lung(30)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65	all_cancers(38;1.24e-11)		BRCA - Breast invasive adenocarcinoma(10;1.04e-05)		Amitriptyline(DB00321)	CCGTAGCCAATGGTGGTCAGC	0.642													C	62071046	T	C	62071046	3	2	364	1	0	0	0	0	1	0	0	0	8141	1464	51	3	1898	3	KCNQ2	20	62071046	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89294	62071046	954474	14404	37906											
PTK6	5753	broad.mit.edu	37	chr20	62162171	62162171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgaggatgttcctggcGgccaggtcccggtggatgta	6	8	16	11	4	0	0	0	0	0	0	2	4	2	2	4	6	0	2	4	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62162171G>A	ENST00000217185.2	-	6	969	c.942C>T	c.(940-942)gcC>gcT	p.A314A	PTK6_ENST00000542869.1_Silent_p.A213A	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	314	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			TGTTCCTGGCGGCCAGGTCCC	0.607													A	62162171	G	A	62162171	2	1	364	1	0	0	0	0	0	0	0	1	12850	1103	39	1		1	PTK6	20	62162171	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91125	62162171	863349	14405	37907											
PTK6	5753	broad.mit.edu	37	chr20	62168629	62168629	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagtcccagaggcccacAtacttggggcccaggtgagc	9	7	13	12	0	0	3	0	2	0	1	1	3	1	3	3	4	2	0	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62168629A>C	ENST00000217185.2	-	1	66	c.39T>G	c.(37-39)taT>taG	p.Y13*	PTK6_ENST00000542869.1_5'UTR	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	13	SH3.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			AGAGGCCCACATACTTGGGGC	0.701													C	62168629	A	C	62168629	4	2	364	1	0	0	0	0	0	1	0	0	12850	224	8	5	1348	5	PTK6	20	62168629	Nonsense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6458	62168629	856891	14406	37908											
SRMS	6725	broad.mit.edu	37	chr20	62172560	62172560	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccttcatagggacactgGccataggtgaaaacctcgtg	11	8	10	12	1	1	1	1	1	0	0	2	2	1	2	4	3	1	0	4	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62172560G>T	ENST00000217188.1	-	7	1309	c.1269C>A	c.(1267-1269)ggC>ggA	p.G423G		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	423	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AGGGACACTGGCCATAGGTGA	0.627													T	62172560	G	T	62172560	2	4	364	1	0	0	0	0	0	0	0	1	15248	1190	42	4		4	SRMS	20	62172560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3931	62172560	852960	14407	37909											
SRMS	6725	broad.mit.edu	37	chr20	62178752	62178752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtccggctcgccgcccGccggccagatcttgtcccag	4	7	12	18	5	1	1	0	0	1	1	4	1	3	1	6	3	0	1	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62178752G>A	ENST00000217188.1	-	1	105	c.65C>T	c.(64-66)gCg>gTg	p.A22V		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	22							ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CTCGCCGCCCGCCGGCCAGAT	0.716													A	62178752	G	A	62178752	3	1	364	1	0	0	0	0	1	0	0	0	15248	1087	38	1	1433	1	SRMS	20	62178752	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6192	62178752	846768	14408	37910											
C20orf195	79025	broad.mit.edu	37	chr20	62187216	62187216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaagcgccaccacgcccGcatgcagctgctgcgtaagt	8	6	11	16	4	1	0	1	0	0	0	1	0	1	0	3	0	5	6	3	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187216G>A	ENST00000370098.3	+	2	292	c.200G>A	c.(199-201)cGc>cAc	p.R67H	C20orf195_ENST00000370097.1_Missense_Mutation_p.R67H	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	67										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CACCACGCCCGCATGCAGCTG	0.647													A	62187216	G	A	62187216	3	1	364	1	0	0	0	0	1	0	0	0	2121	1087	38	1	202	1	C20orf195	20	62187216	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8464	62187216	838304	14409	37911											
C20orf195	79025	broad.mit.edu	37	chr20	62187487	62187487	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcctggccgactgggcGctggtggagcggcggctggc	2	7	18	14	4	0	0	0	0	0	0	1	2	1	1	3	7	1	2	3	7	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187487G>A	ENST00000370098.3	+	2	563	c.471G>A	c.(469-471)gcG>gcA	p.A157A	C20orf195_ENST00000370097.1_Silent_p.A157A	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	157										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CCGACTGGGCGCTGGTGGAGC	0.687													A	62187487	G	A	62187487	2	1	364	1	0	0	0	0	0	0	0	1	2121	1074	38	1		1	C20orf195	20	62187487	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271	62187487	838033	14410	37912											
C20orf195	79025	broad.mit.edu	37	chr20	62187669	62187669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgaccgaaaggcgtcggCggctcaccaggactgggccc	7	6	15	13	4	1	1	1	1	0	0	2	3	1	2	3	5	0	2	3	5	1	1	rs117659219	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62187669C>T	ENST00000370098.3	+	2	745	c.653C>T	c.(652-654)gCg>gTg	p.A218V	C20orf195_ENST00000370097.1_Missense_Mutation_p.A218V	NM_024059.2	NP_076964.1	Q9BVV2	CT195_HUMAN	chromosome 20 open reading frame 195	218										large_intestine(3)|lung(4)	7	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			AAGGCGTCGGCGGCTCACCAG	0.622													T	62187669	C	T	62187669	3	4	364	1	0	0	0	0	1	0	0	0	2121	768	27	1	655	1	C20orf195	20	62187669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	182	62187669	837851	14411	37913											
RTEL1	51750	broad.mit.edu	37	chr20	62293280	62293280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacaggtcatcaacgagcttCggaacacctcctaccggtgg	10	7	10	14	3	2	0	2	0	0	0	4	2	3	1	3	4	4	1	3	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62293280C>T	ENST00000318100.4	+	4	1206	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R127W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R127W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R127W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R127W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	127	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CAACGAGCTTCGGAACACCTC	0.552													T	62293280	C	T	62293280	3	4	364	1	0	0	0	0	1	0	0	0	13811	875	31	1	389	1	RTEL1	20	62293280	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	105611	62293280	732240	14412	37914											
RTEL1	51750	broad.mit.edu	37	chr20	62303918	62303918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctgtagagccgcagaGcacacaacattgacctgaag	12	7	9	13	1	0	4	0	2	0	2	2	4	2	4	4	0	3	3	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62303918G>A	ENST00000318100.4	+	9	1536	c.709G>A	c.(709-711)Gca>Aca	p.A237T	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A237T|RTEL1_ENST00000370018.3_Missense_Mutation_p.A237T|RTEL1_ENST00000508582.2_Missense_Mutation_p.A261T|RTEL1_ENST00000360203.5_Missense_Mutation_p.A237T	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	237	Helicase ATP-binding.				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			GAGCCGCAGAGCACACAACAT	0.562													A	62303918	G	A	62303918	3	1	364	1	0	0	0	0	1	0	0	0	13811	971	34	2	739	2	RTEL1	20	62303918	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10638	62303918	721602	14413	37915											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62329814	62329814	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacggagctcctgggggcGcaggacggggcgctgctggt	4	6	19	12	4	1	0	1	0	0	0	2	2	2	2	1	7	2	4	1	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62329814G>A	ENST00000369996.1	+	3	901	c.801G>A	c.(799-801)gcG>gcA	p.A267A	RTEL1-TNFRSF6B_ENST00000482936.1_3'UTR	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	267					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			TCCTGGGGGCGCAGGACGGGG	0.756													A	62329814	G	A	62329814	2	1	364	1	0	0	0	0	0	0	0	1	16398	1074	38	1		1	TNFRSF6B	20	62329814	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25896	62329814	695706	14414	37916											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62374245	62374245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcacaggaagccccgcggcGacgcgaagaagtgccggaag	11	1	16	13	7	0	1	0	0	0	1	0	5	0	3	3	3	2	1	3	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374245G>A	ENST00000266077.2	+	8	1118	c.1066G>A	c.(1066-1068)Gac>Aac	p.D356N	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	356						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCCCCGCGGCGACGCGAAGAA	0.672													A	62374245	G	A	62374245	3	1	364	1	0	0	0	0	1	0	0	0	14641	1058	37	1	1096	1	SLC2A4RG	20	62374245	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44431	62374245	651275	14415	37917											
SLC2A4RG	56731	broad.mit.edu	37	chr20	62374307	62374307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacctctggtgcacagcctgCcgctggaagaaagcctgcca	9	6	12	14	1	1	1	0	0	1	1	1	3	1	2	5	2	5	2	5	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62374307C>T	ENST00000266077.2	+	8	1180	c.1128C>T	c.(1126-1128)tgC>tgT	p.C376C	SLC2A4RG_ENST00000493772.1_3'UTR	NM_020062.3	NP_064446.2	Q9NR83	S2A4R_HUMAN	SLC2A4 regulator	376						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|prostate(2)|skin(1)	7	all_cancers(38;1.13e-12)|all_epithelial(29;2.64e-14)|Lung NSC(23;4.79e-10)|all_lung(23;1.7e-09)					GCACAGCCTGCCGCTGGAAGA	0.657													T	62374307	C	T	62374307	2	4	364	1	0	0	0	0	0	0	0	1	14641	747	26	2		2	SLC2A4RG	20	62374307	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62	62374307	651213	14416	37918											
ZBTB46	140685	broad.mit.edu	37	chr20	62378406	62378406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggccctcgtcgtcctcGcccagctcctccgcctcccc	2	7	8	24	4	0	0	0	0	0	0	7	0	4	0	9	1	1	1	9	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62378406G>A	ENST00000245663.4	-	5	1797	c.1647C>T	c.(1645-1647)ggC>ggT	p.G549G	ZBTB46_ENST00000302995.2_Silent_p.G549G|ZBTB46_ENST00000395104.1_Silent_p.G549G	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGTCGTCCTCGCCCAGCTCCT	0.726													A	62378406	G	A	62378406	2	1	364	1	0	0	0	0	0	0	0	1	17648	1074	38	1		1	ZBTB46	20	62378406	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4099	62378406	647114	14417	37919											
ZBTB46	140685	broad.mit.edu	37	chr20	62384176	62384176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccgagaagctgcagtacgGacacttgaacttcttcctga	10	9	11	11	2	1	3	0	2	1	1	2	5	2	4	2	2	4	3	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62384176G>T	ENST00000245663.4	-	4	1411	c.1261C>A	c.(1261-1263)Ccg>Acg	p.P421T	ZBTB46_ENST00000302995.2_Missense_Mutation_p.P421T|ZBTB46_ENST00000395104.1_Missense_Mutation_p.P421T	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CTGCAGTACGGACACTTGAAC	0.607													T	62384176	G	T	62384176	3	4	364	1	0	0	0	0	1	0	0	0	17648	1174	41	4	516	4	ZBTB46	20	62384176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5770	62384176	641344	14418	37920											
ZBTB46	140685	broad.mit.edu	37	chr20	62421634	62421634	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcccagccatcacggcCgagatgagagcttccgtgct	7	8	10	16	3	1	2	1	1	0	2	4	4	4	2	5	1	3	2	5	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62421634C>T	ENST00000245663.4	-	2	627	c.477G>A	c.(475-477)tcG>tcA	p.S159S	ZBTB46_ENST00000395104.1_Silent_p.S159S|ZBTB46_ENST00000302995.2_Silent_p.S159S	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	159					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CCATCACGGCCGAGATGAGAG	0.642													T	62421634	C	T	62421634	2	4	364	1	0	0	0	0	0	0	0	1	17648	639	23	1		1	ZBTB46	20	62421634	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37458	62421634	603886	14419	37921											
UCKL1	54963	broad.mit.edu	37	chr20	62577807	62577807	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccccccgctgctctcaccGatggcgaaggcctctttgga	6	8	10	17	3	2	0	1	0	2	0	3	3	2	1	5	3	1	2	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62577807G>A	ENST00000369908.5	-	2	557	c.258C>T	c.(256-258)atC>atT	p.I86I	UCKL1_ENST00000354216.6_Splice_Site_p.I101I|UCKL1_ENST00000369892.3_Splice_Site_p.I101I|UCKL1_ENST00000492660.1_5'UTR|UCKL1_ENST00000358711.3_Splice_Site_p.I101I	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	101					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGCTCTCACCGATGGCGAAGG	0.677													A	62577807	G	A	62577807	5	1	364	1	0	0	0	0	0	0	1	0	17027	1072	37	1	1399	1	UCKL1	20	62577807	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156173	62577807	447713	14420	37922											
ZNF512B	57473	broad.mit.edu	37	chr20	62591493	62591493	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatgttcggaaccagttCtggggagagaaaagcgctga	11	8	15	7	2	1	3	0	2	1	1	2	6	1	5	1	3	2	4	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62591493C>A	ENST00000450537.1	-	17	2488		c.e17-1		ZNF512B_ENST00000369888.1_Splice_Site|ZNF512B_ENST00000217130.3_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GGAACCAGTTCTGGGGAGAGA	0.542													A	62591493	C	A	62591493	5	1	364	1	0	0	0	0	0	0	1	0	18058	927	32	4	255	4	ZNF512B	20	62591493	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13686	62591493	434027	14421	37923											
ZNF512B	57473	broad.mit.edu	37	chr20	62597978	62597978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgaccccaacaggccGgctgatggtgaccggcctgc	6	7	13	15	2	0	3	0	3	0	0	0	3	0	3	5	4	3	2	5	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62597978G>A	ENST00000450537.1	-	5	610	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	ZNF512B_ENST00000369888.1_Missense_Mutation_p.R184W|ZNF512B_ENST00000217130.3_Missense_Mutation_p.R184W			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					CCAACAGGCCGGCTGATGGTG	0.597													A	62597978	G	A	62597978	3	1	364	1	0	0	0	0	1	0	0	0	18058	1115	39	1	2180	1	ZNF512B	20	62597978	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6485	62597978	427542	14422	37924											
SAMD10	140700	broad.mit.edu	37	chr20	62608449	62608449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggtcaggccacccagcGaggggcttgtatggtacagg	7	6	17	11	2	1	0	1	0	0	0	1	1	1	0	3	6	2	3	3	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62608449G>A	ENST00000369886.3	-	3	494	c.320C>T	c.(319-321)tCg>tTg	p.S107L	SAMD10_ENST00000498830.1_5'UTR|ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron	NM_080621.4	NP_542188.1	Q9BYL1	SAM10_HUMAN	sterile alpha motif domain containing 10	107										kidney(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	7	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCCACCCAGCGAGGGGCTTGT	0.637													A	62608449	G	A	62608449	3	1	364	1	0	0	0	0	1	0	0	0	13906	1059	37	1	300	1	SAMD10	20	62608449	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10471	62608449	417071	14423	37925											
PRPF6	24148	broad.mit.edu	37	chr20	62658381	62658381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtgcaagacaacatcaGggcagcccaagatctgtgcg	11	6	14	10	1	2	2	1	0	1	2	2	2	2	2	1	2	4	2	1	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62658381G>T	ENST00000535781.1	+	15	2066	c.1955G>T	c.(1954-1956)aGg>aTg	p.R652M	ZNF512B_ENST00000217130.3_Intron|ZNF512B_ENST00000450537.1_Intron			O94906	PRP6_HUMAN	pre-mRNA processing factor 6	692					assembly of spliceosomal tri-snRNP|positive regulation of transcription from RNA polymerase II promoter|spliceosome assembly	catalytic step 2 spliceosome|nucleoplasm|U4/U6 snRNP|U4/U6 x U5 tri-snRNP complex|U5 snRNP	androgen receptor binding|ribonucleoprotein binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(38;6.47e-12)|all_epithelial(29;1.26e-13)|Lung NSC(23;9.37e-10)|all_lung(23;3.23e-09)					GACAACATCAGGGCAGCCCAA	0.572													T	62658381	G	T	62658381	3	4	364	1	0	0	0	0	1	0	0	0	12660	1000	35	4	2137	4	PRPF6	20	62658381	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49932	62658381	367139	14424	37926											
RGS19	10287	broad.mit.edu	37	chr20	62705620	62705620	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagagcatgttctcctcGctgtactctgtccgcaggaa	9	10	10	12	2	2	2	0	0	2	2	5	3	3	3	2	1	2	5	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705620G>A	ENST00000395042.1	-	5	605	c.339C>T	c.(337-339)agC>agT	p.S113S	RGS19_ENST00000332298.5_Silent_p.S113S	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	113	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TGTTCTCCTCGCTGTACTCTG	0.612													A	62705620	G	A	62705620	2	1	364	1	0	0	0	0	0	0	0	1	13390	1078	38	1		1	RGS19	20	62705620	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47239	62705620	319900	14425	37927											
RGS19	10287	broad.mit.edu	37	chr20	62705659	62705659	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgcccggaacacgctgcgTcccgctgggctgtgcatcag	7	6	13	15	5	1	0	1	0	0	0	2	1	2	1	2	2	4	4	2	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62705659T>C	ENST00000395042.1	-	5	566	c.300A>G	c.(298-300)ggA>ggG	p.G100G	RGS19_ENST00000332298.5_Silent_p.G100G	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	100	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					ACACGCTGCGTCCCGCTGGGC	0.632													C	62705659	T	C	62705659	2	2	364	1	0	0	0	0	0	0	0	1	13390	1654	58	3		3	RGS19	20	62705659	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39	62705659	319861	14426	37928											
OPRL1	4987	broad.mit.edu	37	chr20	62729242	62729242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgacgctgcccttccaGggcacggacatcctcctggg	5	8	12	16	2	0	1	0	1	0	0	3	2	3	2	4	3	2	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62729242G>T	ENST00000349451.3	+	5	733	c.321G>T	c.(319-321)caG>caT	p.Q107H	OPRL1_ENST00000355631.4_Missense_Mutation_p.Q107H|OPRL1_ENST00000336866.2_Missense_Mutation_p.Q107H	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	107					elevation of cytosolic calcium ion concentration|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception	integral to plasma membrane	protein binding|X-opioid receptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCCCTTCCAGGGCACGGACA	0.547													T	62729242	G	T	62729242	3	4	364	1	0	0	0	0	1	0	0	0	10962	991	35	4	327	4	OPRL1	20	62729242	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23583	62729242	296278	14427	37929											
NPBWR2	2832	broad.mit.edu	37	chr20	62737922	62737922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagagcccgtcggcgacgGccaggttcaggatgaacacg	10	5	15	11	5	1	3	1	2	0	1	2	5	1	4	2	4	2	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62737922G>A	ENST00000369768.1	-	1	602	c.263C>T	c.(262-264)gCc>gTc	p.A88V		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	88						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					GTCGGCGACGGCCAGGTTCAG	0.612													A	62737922	G	A	62737922	3	1	364	1	0	0	0	0	1	0	0	0	10645	1203	42	2	741	2	NPBWR2	20	62737922	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8680	62737922	287598	14428	37930											
MYT1	4661	broad.mit.edu	37	chr20	62854528	62854528	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacgcctcccaccgcaggTttgtctcctgctcgggtccg	4	10	10	17	4	1	0	0	0	1	0	5	0	3	0	5	2	2	3	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854528T>C	ENST00000536311.1	+	15	2904		c.e15+2		MYT1_ENST00000360149.4_Splice_Site|MYT1_ENST00000328439.1_Splice_Site			Q01538	MYT1_HUMAN	myelin transcription factor 1						cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CCACCGCAGGTTTGTCTCCTG	0.612													C	62854528	T	C	62854528	5	2	364	1	0	0	0	0	0	0	1	0	10182	1739	60	3	2511	3	MYT1	20	62854528	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	116606	62854528	170992	14429	37931											
MYT1	4661	broad.mit.edu	37	chr20	62854707	62854707	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggctgcccactctgctgaCctcaagtatgtttgcgctcc	6	12	9	14	1	2	1	1	1	1	0	3	1	3	1	3	1	3	5	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr20:62854707C>T	ENST00000536311.1	+	16	2968	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Silent_p.D841D			Q01538	MYT1_HUMAN	myelin transcription factor 1	841					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ACTCTGCTGACCTCAAGTATG	0.547													T	62854707	C	T	62854707	2	4	364	1	0	0	0	0	0	0	0	1	10182	506	18	2		2	MYT1	20	62854707	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	179	62854707	170813	14430	37932											
TPTE	7179	broad.mit.edu	37	chr21	10933894	10933894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctacgatgttttcaagatCttgagccatccactcattta	10	14	6	11	2	3	2	2	1	1	1	4	3	4	2	2	0	2	2	2	0	3	6	rs148357558		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10933894C>A	ENST00000298232.7	-	16	1298	c.931G>T	c.(931-933)Gat>Tat	p.D311Y	TPTE_ENST00000361285.4_Missense_Mutation_p.D329Y|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.D291Y	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	329	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.D311N(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCAAGATCTTGAGCCATC	0.318													A	10933894	C	A	10933894	3	1	364	1	0	0	0	0	1	0	0	0	16531	913	32	4	702	4	TPTE	21	10933894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08		10933894	37196001	14431	37933											
TPTE	7179	broad.mit.edu	37	chr21	10934119	10934119	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggatcgtaagctctttcAcctaaaataaataatatgta	16	14	5	6	1	2	0	1	0	1	0	3	1	2	1	1	1	1	3	1	1	9	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10934119A>G	ENST00000298232.7	-	15	1171	c.804T>C	c.(802-804)agT>agC	p.S268S	TPTE_ENST00000361285.4_Splice_Site_p.S286S|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S248S	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	286	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGCTCTTTCACCTAAAATAA	0.303													G	10934119	A	G	10934119	5	3	364	1	0	0	0	0	0	0	1	0	16531	173	6	3	833	3	TPTE	21	10934119	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	225	10934119	37195776	14432	37934											
TPTE	7179	broad.mit.edu	37	chr21	10996140	10996140	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccataaatccaccaatacCtatccaaaaaagaaattggg	19	7	4	11	0	0	1	0	0	0	1	2	1	2	1	5	1	1	0	5	1	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:10996140C>A	ENST00000415664.2	-	11	1346		c.e11-1					P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCACCAATACCTATCCAAAAA	0.378													A	10996140	C	A	10996140	5	1	364	1	0	0	0	0	0	0	1	0	16531	696	24	4		4	TPTE	21	10996140	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	62021	10996140	37133755	14433	37935											
BAGE2	85319	broad.mit.edu	37	chr21	11038775	11038775	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaattttctcttagtaatagCtggtttacccatgccagttt	10	17	6	8	0	1	0	0	0	1	0	2	0	1	0	2	1	3	4	2	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038775C>A	ENST00000470054.1	-	0	1428									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTAGTAATAGCTGGTTTACCC	0.388													A	11038775	C	A	11038775	1	1	364	0	1	0	0	0	0	0	0	0	1297	812	28	4		4	BAGE2	21	11038775	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42635	11038775	37091120	14434	37936											
BAGE2	85319	broad.mit.edu	37	chr21	11038962	11038962	+	RNA	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgataatgaaaatgatgactCtgtctcagatgataacttta	15	14	7	5	0	2	6	1	5	2	1	3	6	2	6	0	0	1	0	0	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11038962C>T	ENST00000470054.1	-	0	1241									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATGATGACTCTGTCTCAGAT	0.413													T	11038962	C	T	11038962	1	4	364	0	1	0	0	0	0	0	0	0	1297	928	32	2		2	BAGE2	21	11038962	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187	11038962	37090933	14435	37937											
BAGE2	85319	broad.mit.edu	37	chr21	11039266	11039266	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctctaacaactgcagttgCtcttgctgcacagtgatctg	8	13	8	12	0	3	1	0	1	3	0	4	1	4	1	1	0	6	5	1	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11039266C>T	ENST00000470054.1	-	0	937									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ACTGCAGTTGCTCTTGCTGCA	0.398													T	11039266	C	T	11039266	1	4	364	0	1	0	0	0	0	0	0	0	1297	812	28	2		2	BAGE2	21	11039266	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304	11039266	37090629	14436	37938											
BAGE2	85319	broad.mit.edu	37	chr21	11049593	11049593	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaggtctcccgggctgtcGcacactgcacagtttgcatc	8	9	11	13	2	1	1	0	0	1	1	4	1	1	1	1	2	2	5	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:11049593G>A	ENST00000470054.1	-	0	515									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CCGGGCTGTCGCACACTGCAC	0.383													A	11049593	G	A	11049593	1	1	364	0	1	0	0	0	0	0	0	0	1297	1087	38	1		1	BAGE2	21	11049593	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10327	11049593	37080302	14437	37939											
LIPI	149998	broad.mit.edu	37	chr21	15561361	15561362	+	Frame_Shift_Ins	INS	-	-	T																															ttcccagacttaccaaaagaINStttttaatgtgcacactcaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:15561361_15561362insT	ENST00000344577.2	-	2	513_514	c.488_489insA	c.(487-489)aatfs	p.N163fs	LIPI_ENST00000536861.1_Frame_Shift_Ins_p.N142fs	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	142					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TTACCAAAAGATTTTTAATGTG	0.332													T	15561362	-	T	15561361	7	5	364	1	0	1	1	0	0	0	0	0	8886	330	12	0	992	0	LIPI	21	15561361	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	4511768	15561361	32568534	14438	37940											
NRIP1	8204	broad.mit.edu	37	chr21	16338404	16338404	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctttcaagcagattttCtatttcagaaccagaaagcc	13	12	6	10	1	4	3	2	0	2	3	4	3	4	3	2	0	3	1	2	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:16338404C>A	ENST00000400202.1	-	3	2822	c.2110G>T	c.(2110-2112)Gaa>Taa	p.E704*	NRIP1_ENST00000400199.1_Nonsense_Mutation_p.E704*|NRIP1_ENST00000318948.4_Nonsense_Mutation_p.E704*			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	704					androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AGCAGATTTTCTATTTCAGAA	0.408													A	16338404	C	A	16338404	4	1	364	1	0	0	0	0	0	1	0	0	10728	922	32	4	1370	4	NRIP1	21	16338404	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	777043	16338404	31791491	14439	37941											
USP25	29761	broad.mit.edu	37	chr21	17246800	17246800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaggcttatacagaggAcatgatgaagaattgatatc	16	11	9	5	0	1	5	0	3	1	2	2	6	1	6	0	2	1	1	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246800A>G	ENST00000285681.2	+	23	3219	c.2850A>G	c.(2848-2850)ggA>ggG	p.G950G	USP25_ENST00000400183.2_Silent_p.G988G|USP25_ENST00000285679.6_Silent_p.G918G|USP25_ENST00000351097.5_Silent_p.G313G	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	918					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TATACAGAGGACATGATGAAG	0.313													G	17246800	A	G	17246800	2	3	364	1	0	0	0	0	0	0	0	1	17158	262	10	3		3	USP25	21	17246800	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	908396	17246800	30883095	14440	37942											
USP25	29761	broad.mit.edu	37	chr21	17246839	17246839	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacattatagaagagaatgTttgctagtaagttgaatgca	15	13	9	4	0	1	3	1	1	0	2	1	4	1	3	0	0	2	5	0	0	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:17246839T>C	ENST00000285681.2	+	23	3258	c.2889T>C	c.(2887-2889)tgT>tgC	p.C963C	USP25_ENST00000400183.2_Silent_p.C1001C|USP25_ENST00000285679.6_Silent_p.C931C|USP25_ENST00000351097.5_Silent_p.C326C	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	931					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GAAGAGAATGTTTGCTAGTAA	0.333													C	17246839	T	C	17246839	2	2	364	1	0	0	0	0	0	0	0	1	17158	1731	60	3		3	USP25	21	17246839	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39	17246839	30883056	14441	37943											
CXADR	1525	broad.mit.edu	37	chr21	18919457	18919457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcccgaagaccagggaccGctggacatcgagtggctgat	10	6	14	11	3	0	2	0	1	0	1	2	6	1	4	3	3	0	2	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18919457G>A	ENST00000284878.7	+	2	904	c.156G>A	c.(154-156)ccG>ccA	p.P52P	CXADR_ENST00000400166.1_Silent_p.P52P|CXADR_ENST00000356275.6_Silent_p.P52P|CXADR_ENST00000306618.10_Silent_p.P52P|CXADR_ENST00000400165.1_Silent_p.P52P|CXADR_ENST00000400169.1_Silent_p.P52P	NM_001338.4	NP_001329.1	P78310	CXAR_HUMAN	coxsackie virus and adenovirus receptor	52	Ig-like C2-type 1.				blood coagulation|cell adhesion|interspecies interaction between organisms|leukocyte migration|regulation of immune response	adherens junction|basolateral plasma membrane|extracellular region|integral to plasma membrane|nucleus|tight junction	receptor activity			endometrium(2)|large_intestine(5)|lung(1)|ovary(1)|prostate(2)	11				Epithelial(23;0.000206)|all cancers(11;0.000302)|OV - Ovarian serous cystadenocarcinoma(11;0.0194)|Lung(58;0.0233)|COAD - Colon adenocarcinoma(22;0.0389)|Colorectal(24;0.0483)|LUSC - Lung squamous cell carcinoma(23;0.0782)		ACCAGGGACCGCTGGACATCG	0.468													A	18919457	G	A	18919457	2	1	364	1	0	0	0	0	0	0	0	1	4109	1074	38	1		1	CXADR	21	18919457	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1672618	18919457	29210438	14442	37944											
BTG3	10950	broad.mit.edu	37	chr21	18977277	18977277	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcacaggctttcaggacaTcaggatcaactctctgaaat	12	12	7	10	0	5	1	4	1	1	0	6	3	5	3	0	3	1	1	0	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:18977277T>G	ENST00000339775.6	-	3	365	c.212A>C	c.(211-213)gAt>gCt	p.D71A	BTG3_ENST00000348354.6_Missense_Mutation_p.D71A	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	71					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		TTTCAGGACATCAGGATCAAC	0.423													G	18977277	T	G	18977277	3	3	364	1	0	0	0	0	1	0	0	0	1565	1435	50	5	694	5	BTG3	21	18977277	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	57820	18977277	29152618	14443	37945											
C21orf91	54149	broad.mit.edu	37	chr21	19169018	19169018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaatacactgttacgacatAaagtggcacctgaatcttgt	14	11	7	9	1	1	1	0	1	1	0	1	2	1	1	1	1	2	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19169018A>G	ENST00000284881.4	-	3	635	c.545T>C	c.(544-546)tTa>tCa	p.L182S	AL109761.5_ENST00000428689.1_RNA|C21orf91_ENST00000400559.3_Missense_Mutation_p.L182S|C21orf91_ENST00000400558.3_Missense_Mutation_p.L182S	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	182										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		GTTACGACATAAAGTGGCACC	0.438													G	19169018	A	G	19169018	3	3	364	1	0	0	0	0	1	0	0	0	2155	372	13	3	360	3	C21orf91	21	19169018	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	191741	19169018	28960877	14444	37946											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653381	19653381	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtaattcactttaaattccaGatgcatcatggcaatgtcgt	12	14	7	8	1	2	1	2	0	0	1	4	1	3	1	1	1	1	3	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653381G>A	ENST00000284885.3	-	22	2677	c.2644C>T	c.(2644-2646)Ctg>Ttg	p.L882L		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	882	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TTAAATTCCAGATGCATCATG	0.328													A	19653381	G	A	19653381	2	1	364	1	0	0	0	0	0	0	0	1	16346	933	33	2		2	TMPRSS15	21	19653381	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	484363	19653381	28476514	14445	37947											
TMPRSS15	5651	broad.mit.edu	37	chr21	19653399	19653399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatgcatcatggcaatgtCgttgtcctttcttcgcctat	7	15	8	11	2	2	1	1	0	1	1	5	1	3	1	2	1	1	3	2	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19653399C>T	ENST00000284885.3	-	22	2659	c.2626G>A	c.(2626-2628)Gac>Aac	p.D876N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	876	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATGGCAATGTCGTTGTCCTTT	0.343													T	19653399	C	T	19653399	3	4	364	1	0	0	0	0	1	0	0	0	16346	884	31	1	449	1	TMPRSS15	21	19653399	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18	19653399	28476496	14446	37948											
TMPRSS15	5651	broad.mit.edu	37	chr21	19685272	19685272	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattacttaccctagtcccaGcagttgacaaacatcatttg	13	12	5	11	0	1	1	1	1	0	0	2	1	2	1	2	0	4	2	2	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:19685272G>T	ENST00000284885.3	-	18	2188	c.2155C>A	c.(2155-2157)Ctg>Atg	p.L719M		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	719	SRCR.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CCTAGTCCCAGCAGTTGACAA	0.358													T	19685272	G	T	19685272	3	4	364	1	0	0	0	0	1	0	0	0	16346	962	34	4	936	4	TMPRSS15	21	19685272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31873	19685272	28444623	14447	37949											
MRPL39	54148	broad.mit.edu	37	chr21	26972178	26972178	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagaaggcaccagaaattActgtaaatccaaccaaaata	21	6	5	9	0	0	2	0	0	0	2	1	2	1	2	3	1	3	2	3	1	10	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26972178A>G	ENST00000307301.7	-	5	562	c.521T>C	c.(520-522)gTa>gCa	p.V174A	MRPL39_ENST00000352957.4_Splice_Site_p.V174A	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	174						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						ACCAGAAATTACTGTAAATCC	0.333													G	26972178	A	G	26972178	5	3	364	1	0	0	0	0	0	0	1	0	9878	405	14	3	612	3	MRPL39	21	26972178	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7286906	26972178	21157717	14448	37950											
MRPL39	54148	broad.mit.edu	37	chr21	26978878	26978878	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggagttaatgataactGcctggctttctctttattaa	9	16	9	7	1	1	1	0	1	1	0	3	2	1	2	1	3	2	2	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:26978878G>A	ENST00000307301.7	-	2	204	c.163C>T	c.(163-165)Cag>Tag	p.Q55*	MRPL39_ENST00000352957.4_Nonsense_Mutation_p.Q55*	NM_080794.3	NP_542984	Q9NYK5	RM39_HUMAN	mitochondrial ribosomal protein L39	55						mitochondrial ribosome	nucleotide binding			endometrium(2)|large_intestine(3)|lung(4)|ovary(1)	10						AATGATAACTGCCTGGCTTTC	0.418													A	26978878	G	A	26978878	4	1	364	1	0	0	0	0	0	1	0	0	9878	1328	46	2	982	2	MRPL39	21	26978878	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6700	26978878	21151017	14449	37951											
JAM2	58494	broad.mit.edu	37	chr21	27074497	27074497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagcaatttaatactgttTccaaactggacactggagaa	16	11	7	7	0	0	1	0	0	0	1	1	3	1	2	1	2	3	2	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074497T>C	ENST00000480456.1	+	6	1163	c.613T>C	c.(613-615)Tcc>Ccc	p.S205P	JAM2_ENST00000425221.2_Missense_Mutation_p.S169P|JAM2_ENST00000312957.5_Missense_Mutation_p.S205P|JAM2_ENST00000400532.1_Missense_Mutation_p.S205P	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	205	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TAATACTGTTTCCAAACTGGA	0.358													C	27074497	T	C	27074497	3	2	364	1	0	0	0	0	1	0	0	0	8001	1783	62	3	635	3	JAM2	21	27074497	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	95619	27074497	21055398	14450	37952											
JAM2	58494	broad.mit.edu	37	chr21	27074552	27074552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaattctgttggatatcGcaggtgtcctgggaaacgaa	10	10	12	9	3	1	0	0	0	1	0	3	3	2	2	2	3	1	3	2	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27074552G>A	ENST00000480456.1	+	6	1218	c.668G>A	c.(667-669)cGc>cAc	p.R223H	JAM2_ENST00000425221.2_Missense_Mutation_p.R187H|JAM2_ENST00000312957.5_Missense_Mutation_p.R223H|JAM2_ENST00000400532.1_Missense_Mutation_p.R223H	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	223	Ig-like C2-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						GTTGGATATCGCAGGTGTCCT	0.398													A	27074552	G	A	27074552	3	1	364	1	0	0	0	0	1	0	0	0	8001	1087	38	1	690	1	JAM2	21	27074552	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55	27074552	21055343	14451	37953											
GABPA	2551	broad.mit.edu	37	chr21	27117541	27117541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtagaacaaacctacgCgccagctgaatgtgtaagcc	13	8	9	11	2	0	2	0	1	0	1	0	2	0	2	3	0	5	3	3	0	6	4	rs140080802	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27117541C>T	ENST00000354828.3	+	3	625	c.98C>T	c.(97-99)gCg>gTg	p.A33V	GABPA_ENST00000400075.3_Missense_Mutation_p.A33V|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	33					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CAAACCTACGCGCCAGCTGAA	0.373													T	27117541	C	T	27117541	3	4	364	1	0	0	0	0	1	0	0	0	6209	768	27	1	104	1	GABPA	21	27117541	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	42989	27117541	21012354	14452	37954											
GABPA	2551	broad.mit.edu	37	chr21	27124333	27124333	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaaacatccttgaaattgTtaaacctgcggacactgttg	12	13	8	8	1	0	1	0	1	0	0	1	2	1	2	2	1	3	3	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27124333T>G	ENST00000354828.3	+	5	868	c.341T>G	c.(340-342)gTt>gGt	p.V114G	GABPA_ENST00000400075.3_Missense_Mutation_p.V114G|GABPA_ENST00000487266.1_3'UTR	NM_001197297.1	NP_001184226.1	Q06546	GABPA_HUMAN	GA binding protein transcription factor, alpha subunit 60kDa	114					positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	protein heterodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	24						CTTGAAATTGTTAAACCTGCG	0.348													G	27124333	T	G	27124333	3	3	364	1	0	0	0	0	1	0	0	0	6209	1725	60	5	355	5	GABPA	21	27124333	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6792	27124333	21005562	14453	37955											
APP	351	broad.mit.edu	37	chr21	27372368	27372368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcagtactcttctgtgTcaaagttgttccggttgccg	6	14	10	11	2	3	0	1	0	2	0	4	0	4	0	3	1	3	5	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27372368T>C	ENST00000358918.3	-	7	1194	c.995A>G	c.(994-996)gAc>gGc	p.D332G	APP_ENST00000354192.3_Intron|APP_ENST00000439274.2_Missense_Mutation_p.D276G|APP_ENST00000359726.3_Intron|APP_ENST00000348990.5_Intron|APP_ENST00000448388.2_Intron|APP_ENST00000346798.3_Missense_Mutation_p.D332G|APP_ENST00000357903.3_Missense_Mutation_p.D332G|APP_ENST00000440126.3_Missense_Mutation_p.D327G	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	332	BPTI/Kunitz inhibitor.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CTCTTCTGTGTCAAAGTTGTT	0.557													C	27372368	T	C	27372368	3	2	364	1	0	0	0	0	1	0	0	0	818	1667	58	3	1365	3	APP	21	27372368	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	248035	27372368	20757527	14454	37956											
CYYR1	116159	broad.mit.edu	37	chr21	27945278	27945278	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atccaagccggtggcctgagGcttggagcgaagggagagcc	9	5	17	10	2	0	2	0	1	0	1	1	5	1	3	4	5	3	1	4	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:27945278G>A	ENST00000435845.2	-	1	325	c.306C>T	c.(304-306)agC>agT	p.S102S	CYYR1_ENST00000299340.4_5'UTR|CYYR1_ENST00000400043.3_5'UTR			Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	143						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GTGGCCTGAGGCTTGGAGCGA	0.637													A	27945278	G	A	27945278	2	1	364	1	0	0	0	0	0	0	0	1	4244	1218	42	2		2	CYYR1	21	27945278	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	572910	27945278	20184617	14455	37957											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210177	28210177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcattctaccagtcttctCtgccaacccaattcacatga	10	11	5	15	1	4	1	1	1	3	0	5	1	4	1	3	1	3	1	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28210177C>A	ENST00000284984.3	-	9	3079	c.2625G>T	c.(2623-2625)caG>caT	p.Q875H		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		TSP type-1 2.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCAGTCTTCTCTGCCAACCCA	0.478													A	28210177	C	A	28210177	3	1	364	1	0	0	0	0	1	0	0	0	255	912	32	4	282	4	ADAMTS1	21	28210177	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264899	28210177	19919718	14456	37958											
ADAMTS5	11096	broad.mit.edu	37	chr21	28338410	28338410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaaccatctcgctccaggtCcaagaggaacctccggccgc	9	5	10	17	4	1	1	0	0	1	1	5	3	4	2	6	3	2	1	6	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:28338410C>A	ENST00000284987.5	-	1	422	c.301G>T	c.(301-303)Gac>Tac	p.D101Y		NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	101					proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						CGCTCCAGGTCCAAGAGGAAC	0.682													A	28338410	C	A	28338410	3	1	364	1	0	0	0	0	1	0	0	0	269	855	30	4	2523	4	ADAMTS5	21	28338410	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	128233	28338410	19791485	14457	37959											
N6AMT1	29104	broad.mit.edu	37	chr21	30248787	30248787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggttccttgcagaccttTtgtcttcattattttcaaaa	9	18	6	8	0	3	1	2	0	1	1	4	1	4	1	2	1	1	2	2	1	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30248787T>C	ENST00000303775.5	-	6	590	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	N6AMT1_ENST00000351429.3_Missense_Mutation_p.K161E	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	189					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						TGCAGACCTTTTGTCTTCATT	0.363													C	30248787	T	C	30248787	3	2	364	1	0	0	0	0	1	0	0	0	10190	1850	64	3	83	3	N6AMT1	21	30248787	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1910377	30248787	17881108	14458	37960											
RWDD2B	10069	broad.mit.edu	37	chr21	30378931	30378931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcaaaaggaatgtcttctCgatggcgaattaaaattctc	14	12	7	8	2	4	0	1	0	3	0	6	3	4	1	0	2	0	0	0	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30378931C>T	ENST00000493196.1	-	5	867	c.767G>A	c.(766-768)cGa>cAa	p.R256Q	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	256										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AATGTCTTCTCGATGGCGAAT	0.318													T	30378931	C	T	30378931	3	4	364	1	0	0	0	0	1	0	0	0	13847	884	31	1	196	1	RWDD2B	21	30378931	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130144	30378931	17750964	14459	37961											
RWDD2B	10069	broad.mit.edu	37	chr21	30380277	30380277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caactgactggactgtgcttCctgtggtgggtgaagatgaa	9	11	14	7	0	0	4	0	3	0	1	1	5	1	5	1	3	2	1	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380277C>T	ENST00000493196.1	-	4	630	c.530G>A	c.(529-531)gGa>gAa	p.G177E	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	177										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						GACTGTGCTTCCTGTGGTGGG	0.443													T	30380277	C	T	30380277	3	4	364	1	0	0	0	0	1	0	0	0	13847	855	30	2	437	2	RWDD2B	21	30380277	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1346	30380277	17749618	14460	37962											
RWDD2B	10069	broad.mit.edu	37	chr21	30380627	30380627	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaggccagagaaaacatcGcctgattaaagagaagaaga	19	5	10	7	1	0	5	0	1	0	4	1	7	0	5	2	1	2	0	2	1	7	2	rs149192196		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30380627G>A	ENST00000493196.1	-	3	396	c.296C>T	c.(295-297)gCg>gTg	p.A99V	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	99	RWD.									endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AGAAAACATCGCCTGATTAAA	0.398													A	30380627	G	A	30380627	5	1	364	1	0	0	0	0	0	0	1	0	13847	1101	38	1	675	1	RWDD2B	21	30380627	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	350	30380627	17749268	14461	37963											
USP16	10600	broad.mit.edu	37	chr21	30426427	30426427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtggtttcacatcagCgacacacatgtgcaagctgt	10	9	12	10	1	2	0	2	0	0	0	2	1	2	0	0	2	3	4	0	2	1	1	rs146396744		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30426427C>T	ENST00000334352.4	+	19	2622	c.2391C>T	c.(2389-2391)agC>agT	p.S797S	USP16_ENST00000399975.3_Silent_p.S796S|USP16_ENST00000399976.2_Silent_p.S797S|USP16_ENST00000535828.1_Silent_p.S426S	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	797					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						TTCACATCAGCGACACACATG	0.338													T	30426427	C	T	30426427	2	4	364	1	0	0	0	0	0	0	0	1	17149	767	27	1		1	USP16	21	30426427	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45800	30426427	17703468	14462	37964											
CCT8	10694	broad.mit.edu	37	chr21	30432936	30432936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattttcccaggtaagtatCtagaataccagcttccagca	13	12	6	10	0	1	1	0	0	1	1	3	1	3	1	3	1	3	4	3	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30432936C>A	ENST00000286788.4	-	14	1701	c.1495G>T	c.(1495-1497)Gat>Tat	p.D499Y	CCT8_ENST00000542732.1_Missense_Mutation_p.D480Y|CCT8_ENST00000540844.1_Missense_Mutation_p.D426Y|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	499					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGGTAAGTATCTAGAATACCA	0.378													A	30432936	C	A	30432936	3	1	364	1	0	0	0	0	1	0	0	0	2990	913	32	4	159	4	CCT8	21	30432936	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6509	30432936	17696959	14463	37965											
CCT8	10694	broad.mit.edu	37	chr21	30439249	30439249	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttggccagaaatacttcAttaccatattgtttactcat	12	15	5	9	0	2	1	2	0	0	1	2	1	2	1	2	1	4	2	2	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30439249A>G	ENST00000286788.4	-	5	731	c.525T>C	c.(523-525)aaT>aaC	p.N175N	CCT8_ENST00000542732.1_Silent_p.N156N|CCT8_ENST00000540844.1_Silent_p.N102N|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	175					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						GAAATACTTCATTACCATATT	0.333													G	30439249	A	G	30439249	2	3	364	1	0	0	0	0	0	0	0	1	2990	214	8	3		3	CCT8	21	30439249	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6313	30439249	17690646	14464	37966											
BACH1	571	broad.mit.edu	37	chr21	30701893	30701893	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatgcacaagcttactcCagaacagctggattgtatcc	14	9	8	10	0	0	1	0	0	0	1	2	3	2	2	2	1	5	4	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30701893C>A	ENST00000399921.1	+	4	1898	c.1655C>A	c.(1654-1656)cCa>cAa	p.P552Q	BACH1_ENST00000286800.3_Missense_Mutation_p.P552Q	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	552						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						AAGCTTACTCCAGAACAGCTG	0.373													A	30701893	C	A	30701893	3	1	364	1	0	0	0	0	1	0	0	0	1288	594	21	4	1665	4	BACH1	21	30701893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	262644	30701893	17428002	14465	37967											
GRIK1	2897	broad.mit.edu	37	chr21	30909580	30909580	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcttttctctgagttcGtctctgatgacaagtaagga	9	15	9	8	1	3	3	0	3	3	0	7	4	3	4	0	1	0	2	0	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30909580G>A	ENST00000399914.1	-	17	3297	c.2776C>T	c.(2776-2778)Cga>Tga	p.R926*	GRIK1_ENST00000535441.1_Nonsense_Mutation_p.R914*|GRIK1_ENST00000327783.4_Nonsense_Mutation_p.R941*|GRIK1_ENST00000399913.1_Nonsense_Mutation_p.R912*|GRIK1_ENST00000389125.3_Nonsense_Mutation_p.R897*			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	0					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCTGAGTTCGTCTCTGATGA	0.398													A	30909580	G	A	30909580	4	1	364	1	0	0	0	0	0	1	0	0	6828	1153	40	1	32	1	GRIK1	21	30909580	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207687	30909580	17220315	14466	37968											
GRIK1	2897	broad.mit.edu	37	chr21	30925998	30925998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggatgggtttgcttacAttgcagtccataaaagaaac	12	12	11	6	0	0	1	0	0	0	1	1	2	1	2	1	3	4	4	1	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:30925998A>G	ENST00000399907.1	-	17	3046	c.2635T>C	c.(2635-2637)Tgt>Cgt	p.C879R	GRIK1_ENST00000535441.1_Intron|GRIK1_ENST00000327783.4_Intron|GRIK1_ENST00000399914.1_Intron|GRIK1_ENST00000399913.1_Intron|GRIK1_ENST00000389125.3_Intron|GRIK1_ENST00000399909.1_Missense_Mutation_p.C864R|GRIK1_ENST00000389124.2_Intron|GRIK1_ENST00000309434.7_Missense_Mutation_p.C881R	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	879					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GTTTGCTTACATTGCAGTCCA	0.333													G	30925998	A	G	30925998	3	3	364	1	0	0	0	0	1	0	0	0	6828	217	8	3	285	3	GRIK1	21	30925998	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	16418	30925998	17203897	14467	37969											
GRIK1	2897	broad.mit.edu	37	chr21	31045367	31045367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacatagaactccttgcctTtcttcatctccttgagtaaa	10	15	4	12	0	4	2	2	1	2	1	6	2	5	2	3	0	2	1	3	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31045367T>C	ENST00000399914.1	-	4	1183	c.662A>G	c.(661-663)aAa>aGa	p.K221R	GRIK1_ENST00000535441.1_Missense_Mutation_p.K221R|GRIK1_ENST00000327783.4_Missense_Mutation_p.K221R|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000399913.1_Missense_Mutation_p.K221R|GRIK1_ENST00000389125.3_Missense_Mutation_p.K221R|GRIK1_ENST00000399909.1_Missense_Mutation_p.K221R|GRIK1_ENST00000389124.2_Missense_Mutation_p.K221R|GRIK1_ENST00000309434.7_Missense_Mutation_p.K221R|GRIK1_ENST00000399907.1_Missense_Mutation_p.K221R			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	221					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	CTCCTTGCCTTTCTTCATCTC	0.448													C	31045367	T	C	31045367	3	2	364	1	0	0	0	0	1	0	0	0	6828	1841	64	3	2310	3	GRIK1	21	31045367	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	119369	31045367	17084528	14468	37970											
CLDN8	9073	broad.mit.edu	37	chr21	31588194	31588194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagccactgtgcccaccattCcaacaccaccaagaaacagc	14	4	5	18	0	0	1	0	0	0	1	1	1	1	1	6	0	5	0	6	0	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31588194C>T	ENST00000399899.1	-	1	197	c.50G>A	c.(49-51)gGa>gAa	p.G17E	CLDN8_ENST00000286809.1_Missense_Mutation_p.G17E	NM_199328.2	NP_955360.1	P56748	CLD8_HUMAN	claudin 8	17					calcium-independent cell-cell adhesion	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			NS(1)|endometrium(2)|large_intestine(6)|lung(6)	15						GCCCACCATTCCAACACCACC	0.502													T	31588194	C	T	31588194	3	4	364	1	0	0	0	0	1	0	0	0	3522	855	30	2	631	2	CLDN8	21	31588194	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	542827	31588194	16541701	14469	37971											
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852400	31852400	+	Silent	SNP	C	C	T																															aatccgtatcctccattgtaCgatgggcggcagcagccata																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852400C>T	ENST00000390689.2	-	1	263	c.237G>A	c.(235-237)tcG>tcA	p.S79S		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	79	26 X 2 AA repeats of G-[YCGS].					intermediate filament				cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						CTCCATTGTACGATGGGCGGC	0.493													T	31852400	C	T	31852400	2	4	364	1	0	0	0	0	0	0	0	1	8586	523	19	1		1	KRTAP19-1	21	31852400	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	264206	31852400	16277495	14470	37972	116	2									
KRTAP19-1	337882	broad.mit.edu	37	chr21	31852407	31852407	+	Missense_Mutation	SNP	C	C	T																															atcctccattgtacgatgggCggcagcagccatatccatag																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31852407C>T	ENST00000390689.2	-	1	256	c.230G>A	c.(229-231)cGc>cAc	p.R77H		NM_181607.1	NP_853638.1	Q8IUB9	KR191_HUMAN	keratin associated protein 19-1	77	26 X 2 AA repeats of G-[YCGS].					intermediate filament		p.R77H(1)		cervix(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GTACGATGGGCGGCAGCAGCC	0.488													T	31852407	C	T	31852407	3	4	364	1	0	0	0	0	1	0	0	0	8586	768	27	1	44	1	KRTAP19-1	21	31852407	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7	31852407	16277488	14471	37973	116	2									
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859657	31859657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgccacatccacagccgtagCcatagcacatgccaccaaag	13	5	7	16	1	0	0	0	0	0	0	1	0	1	0	6	0	5	2	6	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:31859657C>T	ENST00000334055.3	-	1	98	c.11G>A	c.(10-12)gGc>gAc	p.G4D		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	4						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						ACAGCCGTAGCCATAGCACAT	0.567													T	31859657	C	T	31859657	3	4	364	1	0	0	0	0	1	0	0	0	8587	739	26	2	149	2	KRTAP19-2	21	31859657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7250	31859657	16270238	14472	37974											
TIAM1	7074	broad.mit.edu	37	chr21	32502548	32502548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacctgcactcgccaaagctCgaacctgcagcgcttccgtg	8	8	9	16	4	0	0	0	0	0	0	3	1	1	0	4	0	6	4	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:32502548C>T	ENST00000286827.3	-	26	4499	c.4028G>A	c.(4027-4029)cGa>cAa	p.R1343Q	TIAM1_ENST00000541036.1_Missense_Mutation_p.R1283Q	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1343	PH 2.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.R1343L(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CGCCAAAGCTCGAACCTGCAG	0.483													T	32502548	C	T	32502548	3	4	364	1	0	0	0	0	1	0	0	0	15990	884	31	1	763	1	TIAM1	21	32502548	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	642891	32502548	15627347	14473	37975											
HUNK	30811	broad.mit.edu	37	chr21	33371473	33371473	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttgcctttgacatggcCgatggggtcaagacccagtg	9	9	12	11	1	1	2	1	1	0	1	1	3	1	2	4	3	2	0	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:33371473C>T	ENST00000270112.2	+	11	2481	c.2121C>T	c.(2119-2121)gcC>gcT	p.A707A		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	707					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						TTGACATGGCCGATGGGGTCA	0.592													T	33371473	C	T	33371473	2	4	364	1	0	0	0	0	0	0	0	1	7516	639	23	1		1	HUNK	21	33371473	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	868925	33371473	14758422	14474	37976											
SYNJ1	8867	broad.mit.edu	37	chr21	34018894	34018894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcctccacttcagcaCtatagtcatcaacatcacct	12	11	4	14	0	4	0	4	0	0	0	6	1	6	0	3	0	2	2	3	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34018894C>A	ENST00000382499.2	-	24	3172	c.3173G>T	c.(3172-3174)aGt>aTt	p.S1058I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.S1019I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.S1019I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.S1014I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.S1058I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	1019	Pro-rich.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CACTTCAGCACTATAGTCATC	0.448													A	34018894	C	A	34018894	3	1	364	1	0	0	0	0	1	0	0	0	15549	565	20	4	1726	4	SYNJ1	21	34018894	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	647421	34018894	14111001	14475	37977											
SYNJ1	8867	broad.mit.edu	37	chr21	34045776	34045776	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaggttccgacacatactcGaattttcttaggctttgaat	10	14	7	10	2	1	1	0	1	1	0	3	3	2	1	2	2	1	2	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34045776G>A	ENST00000382499.2	-	14	1716	c.1717C>T	c.(1717-1719)Cga>Tga	p.R573*	SYNJ1_ENST00000357345.3_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000322229.7_Nonsense_Mutation_p.R534*|SYNJ1_ENST00000382491.3_Nonsense_Mutation_p.R529*|SYNJ1_ENST00000433931.2_Nonsense_Mutation_p.R573*	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	534	Catalytic (Potential).						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding	p.R534*(2)		breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ACACATACTCGAATTTTCTTA	0.388													A	34045776	G	A	34045776	4	1	364	1	0	0	0	0	0	1	0	0	15549	1066	37	1	3222	1	SYNJ1	21	34045776	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26882	34045776	14084119	14476	37978											
SYNJ1	8867	broad.mit.edu	37	chr21	34072157	34072157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaactcaccagaaaaatCtattatcagttgtctgttct	14	14	5	8	0	5	2	2	1	3	1	5	2	5	2	1	0	1	2	1	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34072157C>A	ENST00000382499.2	-	4	586	c.587G>T	c.(586-588)aGa>aTa	p.R196I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.R157I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.R157I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.R196I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	157	SAC.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CCAGAAAAATCTATTATCAGT	0.383													A	34072157	C	A	34072157	3	1	364	1	0	0	0	0	1	0	0	0	15549	913	32	4	4401	4	SYNJ1	21	34072157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26381	34072157	14057738	14477	37979											
SYNJ1	8867	broad.mit.edu	37	chr21	34074316	34074316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtccatatgcatccagtaCtttggagtatgtacccttga	10	13	9	9	0	0	1	0	1	0	0	2	3	2	2	3	1	3	4	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34074316C>T	ENST00000382499.2	-	3	282	c.283G>A	c.(283-285)Gta>Ata	p.V95I	SYNJ1_ENST00000357345.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V56I|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V56I|SYNJ1_ENST00000433931.2_Missense_Mutation_p.V95I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	56							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						GCATCCAGTACTTTGGAGTAT	0.323													T	34074316	C	T	34074316	3	4	364	1	0	0	0	0	1	0	0	0	15549	565	20	2	4709	2	SYNJ1	21	34074316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2159	34074316	14055579	14478	37980											
IFNAR2	3455	broad.mit.edu	37	chr21	34635762	34635762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgatcaaagtgacacttCtgagtcagatgttgaccttg	11	13	9	8	0	4	5	2	4	2	1	4	5	4	5	1	0	0	1	1	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34635762C>A	ENST00000342136.4	+	9	1831	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000404220.3_3'UTR|IFNAR2_ENST00000382241.3_Missense_Mutation_p.S502Y|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	502					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to interferon-alpha|response to virus|type I interferon-mediated signaling pathway	extracellular region|extracellular space|integral to plasma membrane	protein kinase binding|type I interferon binding|type I interferon receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	AGTGACACTTCTGAGTCAGAT	0.493													A	34635762	C	A	34635762	3	1	364	1	0	0	0	0	1	0	0	0	7603	913	32	4	1695	4	IFNAR2	21	34635762	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561446	34635762	13494133	14479	37981											
IL10RB	3588	broad.mit.edu	37	chr21	34660531	34660531	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacaaagtacgccttcTcccctaggaattctcttcca	12	10	6	13	1	2	2	0	0	2	2	5	3	3	3	4	1	1	1	4	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34660531T>G	ENST00000290200.2	+	6	877	c.769T>G	c.(769-771)Tcc>Gcc	p.S257A		NM_000628.4	NP_000619.3			interleukin 10 receptor, beta											endometrium(1)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						GTACGCCTTCTCCCCTAGGAA	0.512													G	34660531	T	G	34660531	3	3	364	1	0	0	0	0	1	0	0	0	7679	1551	54	5	791	5	IL10RB	21	34660531	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	24769	34660531	13469364	14480	37982											
IFNGR2	3460	broad.mit.edu	37	chr21	34804627	34804627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaagcaacatatcttgctaCgaaacaatggcagatggtaa	16	10	8	7	1	1	1	0	0	1	1	1	2	1	1	0	2	5	4	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34804627C>T	ENST00000290219.6	+	5	1353	c.705C>T	c.(703-705)taC>taT	p.Y235Y	IFNGR2_ENST00000381995.1_Silent_p.Y254Y|IFNGR2_ENST00000405436.1_Silent_p.Y156Y	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	235					regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	TATCTTGCTACGAAACAATGG	0.398													T	34804627	C	T	34804627	2	4	364	1	0	0	0	0	0	0	0	1	7608	547	19	1		1	IFNGR2	21	34804627	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144096	34804627	13325268	14481	37983											
GART	2618	broad.mit.edu	37	chr21	34900595	34900595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagcagtccatctaaggtgGactgaatcacttcataaaga	15	9	9	8	0	3	3	2	1	1	2	4	4	4	4	1	2	1	1	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34900595G>A	ENST00000381831.3	-	10	1207	c.944C>T	c.(943-945)tCc>tTc	p.S315F	GART_ENST00000361093.5_Missense_Mutation_p.S315F|GART_ENST00000381839.3_Missense_Mutation_p.S315F|GART_ENST00000381815.4_Missense_Mutation_p.S315F	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	315	ATP-grasp.				'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATCTAAGGTGGACTGAATCAC	0.423													A	34900595	G	A	34900595	3	1	364	1	0	0	0	0	1	0	0	0	6297	1174	41	2	2144	2	GART	21	34900595	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95968	34900595	13229300	14482	37984											
GART	2618	broad.mit.edu	37	chr21	34907045	34907045	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcactcctgcagacctcaGgttcccaacaatccctattg	9	11	6	15	0	1	1	1	0	0	1	4	1	4	1	4	1	3	3	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34907045G>T	ENST00000381831.3	-	4	519	c.256C>A	c.(256-258)Ctg>Atg	p.L86M	GART_ENST00000361093.5_Missense_Mutation_p.L86M|GART_ENST00000381839.3_Missense_Mutation_p.L86M|GART_ENST00000381815.4_Missense_Mutation_p.L86M	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	86					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	GCAGACCTCAGGTTCCCAACA	0.473													T	34907045	G	T	34907045	3	4	364	1	0	0	0	0	1	0	0	0	6297	991	35	4	2856	4	GART	21	34907045	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6450	34907045	13222850	14483	37985											
GART	2618	broad.mit.edu	37	chr21	34911618	34911618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aattataagtactcgggctgCcattgttctgtctgtaaagc	10	14	9	8	1	2	0	0	0	2	0	3	0	2	0	1	1	3	4	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34911618C>T	ENST00000381831.3	-	2	267	c.4G>A	c.(4-6)Gca>Aca	p.A2T	GART_ENST00000361093.5_Missense_Mutation_p.A2T|GART_ENST00000381839.3_Missense_Mutation_p.A2T|GART_ENST00000381815.4_Missense_Mutation_p.A2T	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	2					'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ACTCGGGCTGCCATTGTTCTG	0.443													T	34911618	C	T	34911618	3	4	364	1	0	0	0	0	1	0	0	0	6297	739	26	2	3116	2	GART	21	34911618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4573	34911618	13218277	14484	37986											
SON	6651	broad.mit.edu	37	chr21	34939572	34939572	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttaaatagagctcaggaaaGggtatgtagcagttttttaa	14	13	11	3	0	1	1	1	0	0	1	1	2	1	2	0	2	2	6	0	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34939572G>T	ENST00000356577.4	+	7	7242	c.6767G>T	c.(6766-6768)aGg>aTg	p.R2256M	SON_ENST00000381692.2_Splice_Site_p.R284M|SON_ENST00000290239.6_Splice_Site_p.R2256M	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	2256					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GCTCAGGAAAGGGTATGTAGC	0.353													T	34939572	G	T	34939572	5	4	364	1	0	0	0	0	0	0	1	0	15020	1014	35	4	7052	4	SON	21	34939572	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27954	34939572	13190323	14485	37987											
CRYZL1	9946	broad.mit.edu	37	chr21	34975779	34975779	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agataatgcagagctgtataGgcacgcactccatcccgaat	13	8	9	11	2	0	2	0	0	0	2	2	3	2	2	2	1	2	5	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34975779G>T	ENST00000361534.2	-	8	607	c.468C>A	c.(466-468)gcC>gcA	p.A156A	CRYZL1_ENST00000445393.1_Silent_p.A94A|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381540.3_Silent_p.A132A|CRYZL1_ENST00000381554.3_Silent_p.A132A|CRYZL1_ENST00000290244.5_Silent_p.A117A			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	132					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						GAGCTGTATAGGCACGCACTC	0.418													T	34975779	G	T	34975779	2	4	364	1	0	0	0	0	0	0	0	1	3954	987	35	4		4	CRYZL1	21	34975779	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36207	34975779	13154116	14486	37988											
CRYZL1	9946	broad.mit.edu	37	chr21	34985901	34985901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagggtcttcagagtccaGgggcaaaattcctaaaaatc	13	9	9	10	0	2	1	1	0	1	1	6	1	5	1	3	3	0	1	3	3	5	3	rs147398519		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:34985901G>T	ENST00000361534.2	-	7	485	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	CRYZL1_ENST00000445393.1_Intron|AP000304.12_ENST00000429238.1_Intron|CRYZL1_ENST00000381540.3_Missense_Mutation_p.L92M|CRYZL1_ENST00000381554.3_Missense_Mutation_p.L92M|CRYZL1_ENST00000290244.5_Missense_Mutation_p.L77M			O95825	QORL1_HUMAN	crystallin, zeta (quinone reductase)-like 1	92					quinone cofactor metabolic process	cytosol	NADP binding|NADPH:quinone reductase activity|zinc ion binding			lung(1)|prostate(1)|urinary_tract(1)	3						TCAGAGTCCAGGGGCAAAATT	0.358											OREG0003568	type=REGULATORY REGION|Gene=CRYZL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	34985901	G	T	34985901	3	4	364	1	0	0	0	0	1	0	0	0	3954	991	35	4	807	4	CRYZL1	21	34985901	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10122	34985901	13143994	14487	37989											
ITSN1	6453	broad.mit.edu	37	chr21	35169735	35169735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatgtgcagcaggaggacGagcatcagagaccaagaaaa	17	3	13	8	1	1	2	1	0	0	2	1	6	1	4	1	2	4	4	1	2	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35169735G>A	ENST00000381318.3	+	18	2293	c.2005G>A	c.(2005-2007)Gag>Aag	p.E669K	ITSN1_ENST00000399326.3_Missense_Mutation_p.E669K|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Missense_Mutation_p.E669K|ITSN1_ENST00000379960.5_Missense_Mutation_p.E669K|ITSN1_ENST00000381285.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399355.2_Missense_Mutation_p.E669K|ITSN1_ENST00000399349.1_Missense_Mutation_p.E669K|ITSN1_ENST00000437442.2_Missense_Mutation_p.E669K|ITSN1_ENST00000381291.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399352.1_Missense_Mutation_p.E669K|ITSN1_ENST00000399338.4_Missense_Mutation_p.E669K|ITSN1_ENST00000399353.1_Missense_Mutation_p.E632K	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	669	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GCAGGAGGACGAGCATCAGAG	0.478													A	35169735	G	A	35169735	3	1	364	1	0	0	0	0	1	0	0	0	7984	1059	37	1	2071	1	ITSN1	21	35169735	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183834	35169735	12960160	14488	37990											
ITSN1	6453	broad.mit.edu	37	chr21	35186340	35186340	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcctttactccagccacGgccactggctcctccccgtc	4	9	7	21	3	0	0	0	0	0	0	5	0	4	0	8	2	2	1	8	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35186340G>A	ENST00000381318.3	+	22	2979	c.2691G>A	c.(2689-2691)acG>acA	p.T897T	ITSN1_ENST00000399326.3_Silent_p.T892T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.T892T|ITSN1_ENST00000379960.5_Silent_p.T892T|ITSN1_ENST00000381285.4_Silent_p.T897T|ITSN1_ENST00000399355.2_Silent_p.T897T|ITSN1_ENST00000399349.1_Silent_p.T892T|ITSN1_ENST00000437442.2_Silent_p.T892T|ITSN1_ENST00000381291.4_Silent_p.T897T|ITSN1_ENST00000399352.1_Silent_p.T892T|ITSN1_ENST00000399338.4_Silent_p.T892T|ITSN1_ENST00000399353.1_Silent_p.T855T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	897					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						CTCCAGCCACGGCCACTGGCT	0.562													A	35186340	G	A	35186340	2	1	364	1	0	0	0	0	0	0	0	1	7984	1103	39	1		1	ITSN1	21	35186340	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16605	35186340	12943555	14489	37991											
ITSN1	6453	broad.mit.edu	37	chr21	35208937	35208937	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggacccaagccagcaatGtaagtgccctggtggctctg	9	8	12	12	0	1	0	0	0	1	0	1	1	1	1	3	3	3	3	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35208937G>A	ENST00000381318.3	+	29	3949		c.e29+1		ITSN1_ENST00000399326.3_Splice_Site|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Splice_Site|ITSN1_ENST00000379960.5_Splice_Site|ITSN1_ENST00000381285.4_Splice_Site|ITSN1_ENST00000399355.2_Splice_Site|ITSN1_ENST00000399349.1_Splice_Site|ITSN1_ENST00000437442.2_Splice_Site|ITSN1_ENST00000381291.4_Splice_Site|ITSN1_ENST00000399352.1_Splice_Site|ITSN1_ENST00000399353.1_Splice_Site	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCAGCAATGTAAGTGCCCT	0.507													A	35208937	G	A	35208937	5	1	364	1	0	0	0	0	0	0	1	0	7984	1391	48	2	3772	2	ITSN1	21	35208937	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22597	35208937	12920958	14490	37992											
ITSN1	6453	broad.mit.edu	37	chr21	35255925	35255925	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgagcccatcttccacatCtcccacattgaccgcgtcta	9	9	6	17	3	3	1	0	1	3	0	5	3	4	1	4	0	1	0	4	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35255925C>A	ENST00000381318.3	+	36	4914	c.4626C>A	c.(4624-4626)atC>atA	p.I1542I	ITSN1_ENST00000399326.3_3'UTR|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399367.3_Silent_p.I1537I|ITSN1_ENST00000381285.4_Silent_p.I1542I|ITSN1_ENST00000437442.2_Silent_p.I1481I	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1542	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						TCTTCCACATCTCCCACATTG	0.517													A	35255925	C	A	35255925	2	1	364	1	0	0	0	0	0	0	0	1	7984	903	32	4		4	ITSN1	21	35255925	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	46988	35255925	12873970	14491	37993											
SLC5A3	6526	broad.mit.edu	37	chr21	35468352	35468352	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccaagtcatcgtgcagagGgtccttgcagccaaaaacat	13	7	10	11	1	1	1	1	0	0	1	3	2	2	1	3	1	4	2	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468352G>A	ENST00000608209.1	+	2	1367	c.855G>A	c.(853-855)agG>agA	p.R285R	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Silent_p.R285R	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3			Implicated in sodium coupling (By similarity).				integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCGTGCAGAGGGTCCTTGCAG	0.483													A	35468352	G	A	35468352	2	1	364	1	0	0	0	0	0	0	0	1	14760	1223	43	2		2	SLC5A3	21	35468352	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	212427	35468352	12661543	14492	37994											
SLC5A3	6526	broad.mit.edu	37	chr21	35468499	35468499	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagcttgcatcaacccagaGcactgcatgctggtgtgtgg	9	10	12	10	0	1	1	1	0	0	1	1	1	1	1	1	2	6	5	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468499G>T	ENST00000608209.1	+	2	1514	c.1002G>T	c.(1000-1002)gaG>gaT	p.E334D	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.E334D	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TCAACCCAGAGCACTGCATGC	0.483													T	35468499	G	T	35468499	3	4	364	1	0	0	0	0	1	0	0	0	14760	962	34	4	1004	4	SLC5A3	21	35468499	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147	35468499	12661396	14493	37995											
SLC5A3	6526	broad.mit.edu	37	chr21	35468959	35468959	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcagtccgtttgatactgGcctttgcctaccgtgcccca	6	11	10	14	2	0	1	0	1	0	0	1	2	1	1	6	1	5	2	6	1	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35468959G>A	ENST00000608209.1	+	2	1974	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Missense_Mutation_p.A488T	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						TTTGATACTGGCCTTTGCCTA	0.488													A	35468959	G	A	35468959	3	1	364	1	0	0	0	0	1	0	0	0	14760	1203	42	2	1464	2	SLC5A3	21	35468959	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	460	35468959	12660936	14494	37996											
RCAN1	1827	broad.mit.edu	37	chr21	35890511	35890511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacatacatggaccaccacGctgggagtggtgtcagtcgc	9	8	12	12	2	2	0	2	0	0	0	3	2	2	2	2	3	1	1	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:35890511G>A	ENST00000481448.1	-	5	1086	c.600C>T	c.(598-600)agC>agT	p.S200S	RCAN1_ENST00000399272.1_Silent_p.S129S|RCAN1_ENST00000489903.1_5'UTR|RCAN1_ENST00000443408.2_Silent_p.S75S|RCAN1_ENST00000313806.4_Silent_p.S210S|RCAN1_ENST00000381135.3_Silent_p.S200S|RCAN1_ENST00000482533.1_Silent_p.S75S|RCAN1_ENST00000381132.2_Silent_p.S155S|RCAN1_ENST00000487990.1_Silent_p.S75S			P53805	RCAN1_HUMAN	regulator of calcineurin 1	210					blood circulation|calcium-mediated signaling|central nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(1)|lung(2)	5						GGACCACCACGCTGGGAGTGG	0.488													A	35890511	G	A	35890511	2	1	364	1	0	0	0	0	0	0	0	1	13256	1078	38	1		1	RCAN1	21	35890511	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	421552	35890511	12239384	14495	37997											
RUNX1	861	broad.mit.edu	37	chr21	36228737	36228737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaggataccgaggccaggtCaaagagtctataagaaagaa	17	6	12	6	1	2	4	1	1	1	3	2	6	2	5	2	3	1	0	2	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36228737C>T	ENST00000486278.2	-	7	764	c.549G>A	c.(547-549)ttG>ttA	p.L183L	RUNX1_ENST00000358356.5_Intron|RUNX1_ENST00000344691.4_Intron|RUNX1_ENST00000325074.5_Intron|RUNX1_ENST00000437180.1_Intron|RUNX1_ENST00000300305.3_Intron|RUNX1_ENST00000399240.1_Intron			Q01196	RUNX1_HUMAN	runt-related transcription factor 1	353					myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						gaggccaggtcaaagagTCTA	0.398			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								T	36228737	C	T	36228737	2	4	364	1	0	0	0	0	0	0	0	1	13837	841	29	2		2	RUNX1	21	36228737	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338226	36228737	11901158	14496	37998											
RUNX1	861	broad.mit.edu	37	chr21	36259226	36259226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggctgtcggtgcgcaccaGctcgcccgggtggtcggcca	3	6	18	14	5	0	0	0	0	0	0	3	0	0	0	3	6	2	3	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:36259226G>A	ENST00000344691.4	-	1	1761	c.184C>T	c.(184-186)Ctg>Ttg	p.L62L	RUNX1_ENST00000358356.5_Silent_p.L62L|RUNX1_ENST00000325074.5_Silent_p.L77L|RUNX1_ENST00000486278.2_Silent_p.L65L|RUNX1_ENST00000437180.1_Silent_p.L89L|RUNX1_ENST00000300305.3_Silent_p.L89L|RUNX1_ENST00000399240.1_Silent_p.L62L	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	62	Runt.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GTGCGCACCAGCTCGCCCGGG	0.711			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								A	36259226	G	A	36259226	2	1	364	1	0	0	0	0	0	0	0	1	13837	962	34	2		2	RUNX1	21	36259226	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30489	36259226	11870669	14497	37999											
CBR3	874	broad.mit.edu	37	chr21	37510183	37510183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actgaagacaaatttttttgCcactagaaacatgtgcaacg	15	11	7	8	1	0	3	0	1	0	2	0	3	0	3	1	0	4	1	1	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37510183C>T	ENST00000290354.5	+	2	631	c.350C>T	c.(349-351)gCc>gTc	p.A117V	CBR3-AS1_ENST00000413862.1_RNA|CBR3-AS1_ENST00000453159.1_RNA|CBR3-AS1_ENST00000608690.1_RNA|CBR3-AS1_ENST00000608632.1_RNA|CBR3-AS1_ENST00000608641.1_RNA|CBR3-AS1_ENST00000608622.1_RNA	NM_001236.3	NP_001227.1	O75828	CBR3_HUMAN	carbonyl reductase 3	117						cytosol|nucleus	carbonyl reductase (NADPH) activity|NADPH binding			kidney(1)|large_intestine(1)|lung(1)	3						AATTTTTTTGCCACTAGAAAC	0.403													T	37510183	C	T	37510183	3	4	364	1	0	0	0	0	1	0	0	0	2735	739	26	2	356	2	CBR3	21	37510183	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1250957	37510183	10619712	14498	38000											
DOPEY2	9980	broad.mit.edu	37	chr21	37583875	37583875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtctttgcgtgcctccctgTtggactcaaatgttcttgtg	5	16	10	10	1	3	0	1	0	2	0	4	1	4	1	2	1	2	2	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37583875T>C	ENST00000399151.3	+	6	791	c.706T>C	c.(706-708)Ttg>Ctg	p.L236L	DOPEY2_ENST00000492760.1_3'UTR	NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	236					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						TGCCTCCCTGTTGGACTCAAA	0.398													C	37583875	T	C	37583875	2	2	364	1	0	0	0	0	0	0	0	1	4747	1722	60	3		3	DOPEY2	21	37583875	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	73692	37583875	10546020	14499	38001											
DOPEY2	9980	broad.mit.edu	37	chr21	37618055	37618055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaaccctaaggaattcatCgaggctgtgtccaggactag	12	8	10	11	1	1	0	1	0	0	0	3	3	2	2	3	3	1	1	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618055C>T	ENST00000399151.3	+	19	3862	c.3777C>T	c.(3775-3777)atC>atT	p.I1259I		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1259					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AGGAATTCATCGAGGCTGTGT	0.592													T	37618055	C	T	37618055	2	4	364	1	0	0	0	0	0	0	0	1	4747	874	31	1		1	DOPEY2	21	37618055	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	34180	37618055	10511840	14500	38002											
DOPEY2	9980	broad.mit.edu	37	chr21	37618224	37618224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgctcctggagctgctcAcctacctctgcctgagcttc	4	12	8	17	0	3	1	1	1	2	0	5	2	4	2	4	1	6	4	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37618224A>G	ENST00000399151.3	+	19	4031	c.3946A>G	c.(3946-3948)Acc>Gcc	p.T1316A		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1316					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGCTGCTCACCTACCTCTG	0.597													G	37618224	A	G	37618224	3	3	364	1	0	0	0	0	1	0	0	0	4747	159	6	3	4016	3	DOPEY2	21	37618224	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	169	37618224	10511671	14501	38003											
MORC3	23515	broad.mit.edu	37	chr21	37710068	37710068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaccatgaatggtcatgTcccagttggattatatggga	11	12	11	7	0	2	1	2	1	0	0	3	3	3	3	2	3	0	1	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710068T>C	ENST00000400485.1	+	4	360	c.284T>C	c.(283-285)gTc>gCc	p.V95A	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	95					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AATGGTCATGTCCCAGTTGGA	0.353													C	37710068	T	C	37710068	3	2	364	1	0	0	0	0	1	0	0	0	9779	1667	58	3	298	3	MORC3	21	37710068	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	91844	37710068	10419827	14502	38004											
MORC3	23515	broad.mit.edu	37	chr21	37710107	37710107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcttcaagtcgggttCtatgcgtctgggtaaagacg	9	11	14	7	3	3	1	1	0	2	1	4	2	3	1	0	3	1	3	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37710107C>A	ENST00000400485.1	+	4	399	c.323C>A	c.(322-324)tCt>tAt	p.S108Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	108					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						AAGTCGGGTTCTATGCGTCTG	0.423													A	37710107	C	A	37710107	3	1	364	1	0	0	0	0	1	0	0	0	9779	913	32	4	337	4	MORC3	21	37710107	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	37710107	10419788	14503	38005											
MORC3	23515	broad.mit.edu	37	chr21	37736539	37736539	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaagttccacctcagtCtgaacctgagagcaacaggt	12	9	8	12	0	4	2	3	2	1	1	5	3	5	2	3	1	3	2	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:37736539C>A	ENST00000400485.1	+	14	1677	c.1601C>A	c.(1600-1602)tCt>tAt	p.S534Y	MORC3_ENST00000487909.1_3'UTR	NM_015358.2	NP_056173.1	Q14149	MORC3_HUMAN	MORC family CW-type zinc finger 3	534					cell aging|maintenance of protein location in nucleus|negative regulation of fibroblast proliferation|peptidyl-serine phosphorylation|protein stabilization	aggresome|intermediate filament cytoskeleton|PML body	ATP binding|zinc ion binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(9)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	35						CCACCTCAGTCTGAACCTGAG	0.388													A	37736539	C	A	37736539	3	1	364	1	0	0	0	0	1	0	0	0	9779	913	32	4	1655	4	MORC3	21	37736539	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26432	37736539	10393356	14504	38006											
SIM2	6493	broad.mit.edu	37	chr21	38095361	38095361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagagtatgagatagagaGgtcgttctttcttcgaatga	11	13	12	5	2	2	4	0	2	2	3	4	7	2	4	0	1	1	3	0	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38095361G>T	ENST00000290399.6	+	5	1086	c.473G>T	c.(472-474)aGg>aTg	p.R158M	SIM2_ENST00000430056.3_Missense_Mutation_p.R158M	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	158					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GAGATAGAGAGGTCGTTCTTT	0.557													T	38095361	G	T	38095361	3	4	364	1	0	0	0	0	1	0	0	0	14418	1000	35	4	491	4	SIM2	21	38095361	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	358822	38095361	10034534	14505	38007											
HLCS	3141	broad.mit.edu	37	chr21	38128859	38128859	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgtggacccagtatcGgtaataaaggggaaggacgc	12	7	14	8	2	0	1	0	1	0	0	1	4	0	4	2	5	0	2	2	5	5	3	rs146448211	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128859G>A	ENST00000399120.1	-	11	3223	c.1993C>T	c.(1993-1995)Cga>Tga	p.R665*	HLCS_ENST00000336648.4_Nonsense_Mutation_p.R665*	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	665					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	ACCCAGTATCGGTAATAAAGG	0.408													A	38128859	G	A	38128859	4	1	364	1	0	0	0	0	0	1	0	0	7268	1124	39	1	195	1	HLCS	21	38128859	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33498	38128859	10001036	14506	38008											
HLCS	3141	broad.mit.edu	37	chr21	38128917	38128917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactctttgatcagtttCtccagcacagtcacgactct	10	13	6	12	1	5	2	2	2	3	0	6	3	5	2	1	0	2	2	1	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38128917C>A	ENST00000399120.1	-	11	3165	c.1935G>T	c.(1933-1935)gaG>gaT	p.E645D	HLCS_ENST00000336648.4_Missense_Mutation_p.E645D	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	645					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	TGATCAGTTTCTCCAGCACAG	0.478													A	38128917	C	A	38128917	3	1	364	1	0	0	0	0	1	0	0	0	7268	912	32	4	253	4	HLCS	21	38128917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58	38128917	10000978	14507	38009											
HLCS	3141	broad.mit.edu	37	chr21	38309032	38309032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaacaccttccctccctgaGaaagataggccatgaacttc	12	8	6	15	0	0	3	0	2	0	2	3	4	2	3	5	1	2	0	5	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309032G>A	ENST00000399120.1	-	5	1943	c.713C>T	c.(712-714)tCt>tTt	p.S238F	HLCS_ENST00000336648.4_Missense_Mutation_p.S238F	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	238					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding	p.S238F(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCCTCCCTGAGAAAGATAGGC	0.532													A	38309032	G	A	38309032	3	1	364	1	0	0	0	0	1	0	0	0	7268	942	33	2	1499	2	HLCS	21	38309032	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	180115	38309032	9820863	14508	38010											
HLCS	3141	broad.mit.edu	37	chr21	38309235	38309235	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgagggcttcctgggagtcGgagcccacatagaggaggat	9	6	16	10	2	0	1	0	0	0	1	2	6	1	5	3	5	1	1	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38309235G>A	ENST00000399120.1	-	5	1740	c.510C>T	c.(508-510)tcC>tcT	p.S170S	HLCS_ENST00000336648.4_Silent_p.S170S	NM_001242784.1	NP_001229713.1	P50747	BPL1_HUMAN	holocarboxylase synthetase (biotin-(proprionyl-CoA-carboxylase (ATP-hydrolysing)) ligase)	170					cell proliferation|histone biotinylation|response to biotin	chromatin|cytosol|mitochondrion|nuclear lamina|nuclear matrix	ATP binding|biotin binding|biotin-[acetyl-CoA-carboxylase] ligase activity|biotin-[methylcrotonoyl-CoA-carboxylase] ligase activity|biotin-[methylmalonyl-CoA-carboxytransferase] ligase activity|biotin-[propionyl-CoA-carboxylase (ATP-hydrolyzing)] ligase activity|enzyme binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(46;0.0422)			Biotin(DB00121)	CCTGGGAGTCGGAGCCCACAT	0.577													A	38309235	G	A	38309235	2	1	364	1	0	0	0	0	0	0	0	1	7268	1103	39	1		1	HLCS	21	38309235	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	203	38309235	9820660	14509	38011											
TTC3	7267	broad.mit.edu	37	chr21	38560897	38560897	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagctggggctgattagccgGtattgcagtttcgtgggtgt	6	13	16	6	2	0	1	0	1	0	0	1	1	0	1	1	4	3	5	1	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38560897G>A	ENST00000399017.2	+	39	7771		c.e39+1		TTC3-AS1_ENST00000424733.1_RNA|TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				TGATTAGCCGGTATTGCAGTT	0.393													A	38560897	G	A	38560897	5	1	364	1	0	0	0	0	0	0	1	0	16799	1275	44	2	5175	2	TTC3	21	38560897	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	251662	38560897	9568998	14510	38012											
TTC3	7267	broad.mit.edu	37	chr21	38569870	38569870	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcactcactctccctttcaGcactgagcttgctggtttta	7	15	6	13	0	4	1	3	1	1	0	5	1	4	1	1	1	3	4	1	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38569870G>T	ENST00000399017.2	+	43	8326		c.e43-1		TTC3_ENST00000355666.1_Splice_Site|TTC3_ENST00000354749.2_Splice_Site|TTC3_ENST00000479930.1_Splice_Site	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3						protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTCCCTTTCAGCACTGAGCTT	0.378													T	38569870	G	T	38569870	5	4	364	1	0	0	0	0	0	0	1	0	16799	985	34	4	5745	4	TTC3	21	38569870	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8973	38569870	9560025	14511	38013											
DSCR3	10311	broad.mit.edu	37	chr21	38610792	38610792	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacacgccatgatacgtcTcatacagaactttgttaccc	13	10	5	13	2	1	2	1	1	1	1	2	2	1	2	2	0	5	1	2	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38610792T>C	ENST00000288304.5	-	3	986	c.194A>G	c.(193-195)gAg>gGg	p.E65G	DSCR3_ENST00000539844.1_Intron|DSCR3_ENST00000476950.1_Missense_Mutation_p.E107G|DSCR3_ENST00000399001.1_Intron|DSCR3_ENST00000309117.6_Missense_Mutation_p.E107G|DSCR3_ENST00000398998.1_Missense_Mutation_p.E59G|DSCR3_ENST00000399000.3_5'UTR			O14972	DSCR3_HUMAN	Down syndrome critical region gene 3	107					vacuolar transport	nucleus|retromer complex				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9						ATGATACGTCTCATACAGAAC	0.453													C	38610792	T	C	38610792	3	2	364	1	0	0	0	0	1	0	0	0	4810	1551	54	3	597	3	DSCR3	21	38610792	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	40922	38610792	9519103	14512	38014											
DYRK1A	1859	broad.mit.edu	37	chr21	38845169	38845169	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaccagattcagcaacCtctaactaaccaggtaagtt	13	11	6	11	0	3	2	1	1	2	1	3	2	3	2	3	1	4	3	3	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38845169C>A	ENST00000339659.4	+	2	1664	c.194C>A	c.(193-195)cCt>cAt	p.P65H	DYRK1A_ENST00000462274.1_3'UTR|DYRK1A_ENST00000451934.1_Missense_Mutation_p.P65H|DYRK1A_ENST00000398956.2_Missense_Mutation_p.P65H|DYRK1A_ENST00000338785.3_Missense_Mutation_p.P65H|DYRK1A_ENST00000398960.2_Missense_Mutation_p.P65H|DYRK1A_ENST00000321219.8_Missense_Mutation_p.P65H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A						nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATTCAGCAACCTCTAACTAAC	0.408													A	38845169	C	A	38845169	3	1	364	1	0	0	0	0	1	0	0	0	4893	681	24	4	200	4	DYRK1A	21	38845169	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	234377	38845169	9284726	14513	38015											
DYRK1A	1859	broad.mit.edu	37	chr21	38884408	38884408	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaccaccatggacaacaAgccttgggtaaccggaccag	13	4	9	15	1	0	0	0	0	0	0	0	2	0	2	6	3	3	1	6	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:38884408A>C	ENST00000339659.4	+	11	3309	c.1839A>C	c.(1837-1839)caA>caC	p.Q613H	DYRK1A_ENST00000338785.3_3'UTR|DYRK1A_ENST00000398960.2_Missense_Mutation_p.Q622H|DYRK1A_ENST00000455387.2_Missense_Mutation_p.Q394H	NM_130436.2	NP_569120.1	Q13627	DYR1A_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 1A		Poly-His.				nervous system development|peptidyl-tyrosine phosphorylation|protein autophosphorylation	nuclear speck	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein self-association|protein serine/threonine kinase activity			breast(4)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						atGGACAACAAGCCTTGGGTA	0.512													C	38884408	A	C	38884408	3	2	364	1	0	0	0	0	1	0	0	0	4893	69	3	5	1992	5	DYRK1A	21	38884408	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39239	38884408	9245487	14514	38016											
KCNJ6	3763	broad.mit.edu	37	chr21	39087049	39087049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaagcagagacgaacccGttgaggttggtaacacaagg	17	5	12	7	2	0	2	0	1	0	1	0	4	0	2	1	3	3	4	1	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:39087049G>A	ENST00000609713.1	-	3	1000	c.411C>T	c.(409-411)aaC>aaT	p.N137N	KCNJ6_ENST00000288309.6_Silent_p.N137N	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AGACGAACCCGTTGAGGTTGG	0.468													A	39087049	G	A	39087049	2	1	364	1	0	0	0	0	0	0	0	1	8113	1136	40	1		1	KCNJ6	21	39087049	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	202641	39087049	9042846	14515	38017											
BRWD1	54014	broad.mit.edu	37	chr21	40568686	40568686	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaaggagcctttccataGgtcctgagtcttctgccatt	9	13	8	11	0	2	1	0	1	2	0	4	2	4	2	4	2	2	0	4	2	3	5	rs143446666		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40568686G>T	ENST00000342449.3	-	41	6387	c.6309C>A	c.(6307-6309)acC>acA	p.T2103T	BRWD1_ENST00000333229.2_Silent_p.T2103T|BRWD1_ENST00000380800.3_Silent_p.T2103T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	2103					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CCTTTCCATAGGTCCTGAGTC	0.423													T	40568686	G	T	40568686	2	4	364	1	0	0	0	0	0	0	0	1	1534	987	35	4		4	BRWD1	21	40568686	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1481637	40568686	7561209	14516	38018											
BRWD1	54014	broad.mit.edu	37	chr21	40572205	40572205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgcttctggatagccCactgcgtgaggaggattcac	8	11	12	10	1	2	1	1	1	1	0	2	4	2	4	1	3	4	2	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40572205C>T	ENST00000342449.3	-	39	4771	c.4693G>A	c.(4693-4695)Ggg>Agg	p.G1565R	BRWD1_ENST00000333229.2_Missense_Mutation_p.G1565R|BRWD1_ENST00000380800.3_Missense_Mutation_p.G1565R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1565					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTGGATAGCCCACTGCGTGAG	0.438													T	40572205	C	T	40572205	3	4	364	1	0	0	0	0	1	0	0	0	1534	594	21	2	2524	2	BRWD1	21	40572205	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3519	40572205	7557690	14517	38019											
BRWD1	54014	broad.mit.edu	37	chr21	40578093	40578093	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccgttgcttgaacctctgGcttcttcgaagtttttcatt	5	18	8	10	2	3	1	1	1	2	0	4	2	3	1	2	1	3	4	2	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40578093G>C	ENST00000342449.3	-	37	4383	c.4305C>G	c.(4303-4305)agC>agG	p.S1435R	BRWD1_ENST00000333229.2_Missense_Mutation_p.S1435R|BRWD1_ENST00000380800.3_Missense_Mutation_p.S1435R	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1435					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TGAACCTCTGGCTTCTTCGAA	0.323													C	40578093	G	C	40578093	3	2	364	1	0	0	0	0	1	0	0	0	1534	1194	42	4	2920	4	BRWD1	21	40578093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5888	40578093	7551802	14518	38020											
BRWD1	54014	broad.mit.edu	37	chr21	40587227	40587227	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaattacactctcaggttCgttaaatgttctggcattat	10	16	7	8	1	2	0	1	0	2	0	4	0	2	0	0	2	2	5	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40587227C>T	ENST00000342449.3	-	32	3799	c.3721G>A	c.(3721-3723)Gaa>Aaa	p.E1241K	BRWD1_ENST00000333229.2_Missense_Mutation_p.E1241K|BRWD1_ENST00000380800.3_Missense_Mutation_p.E1241K	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1241	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CTCTCAGGTTCGTTAAATGTT	0.328													T	40587227	C	T	40587227	3	4	364	1	0	0	0	0	1	0	0	0	1534	893	31	1	3524	1	BRWD1	21	40587227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9134	40587227	7542668	14519	38021											
BRWD1	54014	broad.mit.edu	37	chr21	40610438	40610438	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaactctcactttttctgTcacttctccattcatcctct	6	19	2	14	0	6	0	3	0	4	0	9	0	7	0	2	0	1	1	2	0	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40610438T>C	ENST00000342449.3	-	22	2621	c.2543A>G	c.(2542-2544)gAc>gGc	p.D848G	BRWD1_ENST00000333229.2_Missense_Mutation_p.D848G|BRWD1_ENST00000380800.3_Missense_Mutation_p.D848G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	848					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACTTTTTCTGTCACTTCTCCA	0.383													C	40610438	T	C	40610438	3	2	364	1	0	0	0	0	1	0	0	0	1534	1667	58	3	4742	3	BRWD1	21	40610438	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23211	40610438	7519457	14520	38022											
BRWD1	54014	broad.mit.edu	37	chr21	40630542	40630542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatactcgattctgggctgcGttcatcattatcattggttt	8	17	8	8	2	4	0	3	0	1	0	5	1	4	0	0	2	2	3	0	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40630542G>A	ENST00000342449.3	-	18	2020	c.1942C>T	c.(1942-1944)Cgc>Tgc	p.R648C	BRWD1_ENST00000333229.2_Missense_Mutation_p.R648C|BRWD1_ENST00000380800.3_Missense_Mutation_p.R648C	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	648					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TCTGGGCTGCGTTCATCATTA	0.368													A	40630542	G	A	40630542	3	1	364	1	0	0	0	0	1	0	0	0	1534	1145	40	1	5359	1	BRWD1	21	40630542	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20104	40630542	7499353	14521	38023											
BRWD1	54014	broad.mit.edu	37	chr21	40670402	40670402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcctgcaccaagtaaaGaagtgactcttgaaatactg	13	10	8	10	0	1	3	0	2	1	1	2	3	2	3	3	0	2	2	3	0	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40670402G>T	ENST00000342449.3	-	5	383	c.305C>A	c.(304-306)tCt>tAt	p.S102Y	BRWD1_ENST00000333229.2_Missense_Mutation_p.S102Y|BRWD1_ENST00000341322.4_Missense_Mutation_p.S102Y|BRWD1_ENST00000380800.3_Missense_Mutation_p.S102Y|BRWD1_ENST00000470108.1_5'UTR	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	102					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.S102Y(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACCAAGTAAAGAAGTGACTCT	0.388													T	40670402	G	T	40670402	3	4	364	1	0	0	0	0	1	0	0	0	1534	942	33	4	7062	4	BRWD1	21	40670402	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39860	40670402	7459493	14522	38024											
BRWD1	54014	broad.mit.edu	37	chr21	40685224	40685224	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcgataaggaagtacagCtctgcgggaagacaaggagt	13	5	16	7	3	1	1	0	0	1	1	1	5	1	4	0	4	3	2	0	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40685224C>A	ENST00000342449.3	-	2	129	c.51G>T	c.(49-51)gaG>gaT	p.E17D	BRWD1_ENST00000333229.2_Splice_Site_p.E17D|BRWD1_ENST00000341322.4_Splice_Site_p.E17D|BRWD1_ENST00000380800.3_Splice_Site_p.E17D|BRWD1_ENST00000470108.1_5'UTR	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	17					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAAGTACAGCTCTGCGGGAA	0.741													A	40685224	C	A	40685224	5	1	364	1	0	0	0	0	0	0	1	0	1534	811	28	4	7328	4	BRWD1	21	40685224	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14822	40685224	7444671	14523	38025											
HMGN1	3150	broad.mit.edu	37	chr21	40714987	40714987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaaatattcctctggAttgtacaagaagggagacag	16	10	10	5	0	1	3	0	1	1	2	2	5	2	4	1	2	1	1	1	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40714987A>G	ENST00000361263.4	-	3	926	c.245T>C	c.(244-246)aTc>aCc	p.I82T	HMGN1_ENST00000380747.1_3'UTR|HMGN1_ENST00000489072.1_5'UTR|HMGN1_ENST00000380748.1_3'UTR|HMGN1_ENST00000380749.5_3'UTR			P05114	HMGN1_HUMAN	high mobility group nucleosome binding domain 1	0					positive regulation of transcription elongation, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding			breast(2)|lung(1)	3		Prostate(19;8.69e-07)				ATTCCTCTGGATTGTACAAGA	0.378													G	40714987	A	G	40714987	3	3	364	1	0	0	0	0	1	0	0	0	7289	348	12	3		3	HMGN1	21	40714987	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	29763	40714987	7414908	14524	38026											
WRB	7485	broad.mit.edu	37	chr21	40765207	40765207	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttcctactagagtagcagGtaagaattttctggaagatg	12	13	10	6	0	1	3	0	0	1	3	2	4	2	4	1	2	2	3	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40765207G>A	ENST00000333781.5	+	4	592		c.e4+1		WRB_ENST00000541890.1_Splice_Site|WRB_ENST00000466787.1_Splice_Site|WRB_ENST00000398753.1_Splice_Site|WRB_ENST00000380708.1_Splice_Site	NM_004627.4	NP_004618.2	O00258	WRB_HUMAN	tryptophan rich basic protein							integral to membrane|nucleolus				endometrium(3)	3		Prostate(19;1.2e-06)				AGAGTAGCAGGTAAGAATTTT	0.463													A	40765207	G	A	40765207	5	1	364	1	0	0	0	0	0	0	1	0	17503	1275	44	2	466	2	WRB	21	40765207	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50220	40765207	7364688	14525	38027											
LCA5L	150082	broad.mit.edu	37	chr21	40795308	40795308	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttatgaagccttgctgagAgtattcgatgagccatagca	11	13	10	7	1	0	3	0	3	0	1	1	5	0	3	2	0	4	3	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40795308A>G	ENST00000358268.2	-	5	959	c.431T>C	c.(430-432)cTc>cCc	p.L144P	LCA5L_ENST00000380671.2_Missense_Mutation_p.L144P|LCA5L_ENST00000288350.3_Missense_Mutation_p.L144P|LCA5L_ENST00000485895.2_Missense_Mutation_p.L144P			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	144										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				CCTTGCTGAGAGTATTCGATG	0.338													G	40795308	A	G	40795308	3	3	364	1	0	0	0	0	1	0	0	0	8716	304	11	3	1605	3	LCA5L	21	40795308	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	30101	40795308	7334587	14526	38028											
LCA5L	150082	broad.mit.edu	37	chr21	40800154	40800154	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctccttttcttttaccAcaggctgctttaaataattt	8	20	3	10	0	3	0	0	0	3	0	4	0	3	0	2	1	2	2	2	1	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40800154A>G	ENST00000358268.2	-	4	794	c.266T>C	c.(265-267)gTg>gCg	p.V89A	LCA5L_ENST00000380671.2_Missense_Mutation_p.V89A|LCA5L_ENST00000288350.3_Missense_Mutation_p.V89A|LCA5L_ENST00000485895.2_Missense_Mutation_p.V89A			O95447	LCA5L_HUMAN	Leber congenital amaurosis 5-like	89										breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	24		Prostate(19;1.2e-06)				TTCTTTTACCACAGGCTGCTT	0.323													G	40800154	A	G	40800154	3	3	364	1	0	0	0	0	1	0	0	0	8716	159	6	3	1774	3	LCA5L	21	40800154	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	4846	40800154	7329741	14527	38029											
SH3BGR	6450	broad.mit.edu	37	chr21	40847093	40847093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctgcaaaagaagaGaatattatttattccttcct	12	17	4	8	0	2	2	0	0	2	2	5	3	4	2	2	0	1	1	2	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:40847093G>T	ENST00000333634.4	+	3	531	c.453G>T	c.(451-453)gaG>gaT	p.E151D	SH3BGR_ENST00000458295.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380637.3_Missense_Mutation_p.E40D|SH3BGR_ENST00000380631.1_Missense_Mutation_p.E40D|SH3BGR_ENST00000380634.1_Missense_Mutation_p.E40D	NM_007341.2	NP_031367	P55822	SH3BG_HUMAN	SH3 domain binding glutamic acid-rich protein	151					protein complex assembly	cytosol	SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(3)|lung(2)	8		all_cancers(19;1.16e-23)|all_epithelial(19;1.22e-20)|Prostate(19;2.55e-06)|Breast(209;0.0133)		STAD - Stomach adenocarcinoma(101;0.00151)		CAAAAGAAGAGAATATTATTT	0.363													T	40847093	G	T	40847093	3	4	364	1	0	0	0	0	1	0	0	0	14333	933	33	4	463	4	SH3BGR	21	40847093	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46939	40847093	7282802	14528	38030											
B3GALT5	10317	broad.mit.edu	37	chr21	41032932	41032932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcgcttttgtcctcaggCggcgtttgtgatgaaaacag	8	12	11	10	3	1	2	1	2	0	0	3	2	2	2	2	2	1	2	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41032932C>T	ENST00000380620.4	+	5	1038	c.446C>T	c.(445-447)gCg>gTg	p.A149V	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Missense_Mutation_p.A149V|B3GALT5_ENST00000343118.4_Missense_Mutation_p.A149V|B3GALT5_ENST00000398714.2_Missense_Mutation_p.A149V			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TGTCCTCAGGCGGCGTTTGTG	0.448													T	41032932	C	T	41032932	3	4	364	1	0	0	0	0	1	0	0	0	1255	768	27	1	448	1	B3GALT5	21	41032932	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	185839	41032932	7096963	14529	38031											
B3GALT5	10317	broad.mit.edu	37	chr21	41033236	41033236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtttgtggggctctgcctCgaaaggctgaacatcagatt	8	12	13	8	1	2	2	1	1	1	1	3	3	2	2	1	3	2	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41033236C>T	ENST00000380620.4	+	5	1342	c.750C>T	c.(748-750)ctC>ctT	p.L250L	AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000380618.1_Silent_p.L250L|B3GALT5_ENST00000343118.4_Silent_p.L250L|B3GALT5_ENST00000398714.2_Silent_p.L250L			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				GGCTCTGCCTCGAAAGGCTGA	0.552													T	41033236	C	T	41033236	2	4	364	1	0	0	0	0	0	0	0	1	1255	871	31	1		1	B3GALT5	21	41033236	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	304	41033236	7096659	14530	38032											
DSCAM	1826	broad.mit.edu	37	chr21	41385262	41385262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctggtgcctggaccacctCggtttaacaaaaagtccatt	10	11	9	11	1	0	0	0	0	0	0	2	1	1	1	4	3	3	2	4	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41385262C>T	ENST00000400454.1	-	33	6215	c.5738G>A	c.(5737-5739)cGa>cAa	p.R1913Q		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1913				HRPGDLIHLPPYLRMDFLLNRGGPGTSRDLSLGQACLEPQK SRTLKRPTVLEPIPMEAASSASSTREGQSWQPGAVATLPQR EGAELGQAAKMSSSQESLLDSRGHLKGNNPYAKSYTLV -> IGQVTSYICLHTLEWTFC (in Ref. 1; AAC17966).	cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGGACCACCTCGGTTTAACAA	0.507													T	41385262	C	T	41385262	3	4	364	1	0	0	0	0	1	0	0	0	4807	884	31	1	304	1	DSCAM	21	41385262	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	352026	41385262	6744633	14531	38033											
DSCAM	1826	broad.mit.edu	37	chr21	41452189	41452189	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatttgagattttccaagCgataggaacgttcgctgggg	10	11	12	8	3	0	1	0	1	0	1	2	4	1	2	1	3	2	2	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41452189C>T	ENST00000400454.1	-	25	4787	c.4310G>A	c.(4309-4311)cGc>cAc	p.R1437H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1437	Fibronectin type-III 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				ATTTTCCAAGCGATAGGAACG	0.478													T	41452189	C	T	41452189	3	4	364	1	0	0	0	0	1	0	0	0	4807	768	27	1	1764	1	DSCAM	21	41452189	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66927	41452189	6677706	14532	38034											
DSCAM	1826	broad.mit.edu	37	chr21	41465683	41465683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgactgtgatgatttcactgCtgttgcctcttccggctgaa	6	14	10	11	2	2	3	1	3	1	0	3	4	3	3	2	1	2	3	2	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41465683C>A	ENST00000400454.1	-	21	4292	c.3815G>T	c.(3814-3816)aGc>aTc	p.S1272I		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1272	Fibronectin type-III 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				GATTTCACTGCTGTTGCCTCT	0.473													A	41465683	C	A	41465683	3	1	364	1	0	0	0	0	1	0	0	0	4807	797	28	4	2275	4	DSCAM	21	41465683	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13494	41465683	6664212	14533	38035											
DSCAM	1826	broad.mit.edu	37	chr21	41516605	41516605	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccccagtgctgtactctcgGtaacctatttggtagccacg	7	11	9	14	2	1	0	0	0	1	0	2	0	1	0	4	2	4	4	4	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41516605G>A	ENST00000400454.1	-	17	3549	c.3072C>T	c.(3070-3072)taC>taT	p.Y1024Y		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	1024	Fibronectin type-III 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TGTACTCTCGGTAACCTATTT	0.453													A	41516605	G	A	41516605	2	1	364	1	0	0	0	0	0	0	0	1	4807	1256	44	2		2	DSCAM	21	41516605	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50922	41516605	6613290	14534	38036											
DSCAM	1826	broad.mit.edu	37	chr21	41710040	41710040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcttacctttcacggtcaCgtggacgctctggctggtgg	4	11	15	11	3	3	0	2	0	1	0	3	1	3	1	1	6	1	3	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41710040C>T	ENST00000400454.1	-	8	2248	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	591	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TTCACGGTCACGTGGACGCTC	0.502													T	41710040	C	T	41710040	3	4	364	1	0	0	0	0	1	0	0	0	4807	536	19	1	4371	1	DSCAM	21	41710040	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	193435	41710040	6419855	14535	38037											
DSCAM	1826	broad.mit.edu	37	chr21	41719792	41719792	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcctggtcctcagttcCtgtcacgctgcaggacaagg	7	10	12	12	1	2	0	2	0	0	0	5	2	5	1	3	3	1	4	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:41719792C>A	ENST00000400454.1	-	6	1492	c.1015G>T	c.(1015-1017)Gga>Tga	p.G339*		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	339	Ig-like C2-type 4.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCAGTTCCTGTCACGCTG	0.488													A	41719792	C	A	41719792	4	1	364	1	0	0	0	0	0	1	0	0	4807	690	24	4	5135	4	DSCAM	21	41719792	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9752	41719792	6410103	14536	38038											
BACE2	25825	broad.mit.edu	37	chr21	42609525	42609525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgttggggaagacctcGtcaccatccccaaaggcttc	8	9	10	14	2	1	1	1	0	0	1	5	2	2	2	4	3	0	3	4	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42609525G>A	ENST00000347667.5	+	3	950	c.487G>A	c.(487-489)Gtc>Atc	p.V163I	BACE2_ENST00000330333.6_Missense_Mutation_p.V163I|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.V163I	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				GGAAGACCTCGTCACCATCCC	0.448													A	42609525	G	A	42609525	3	1	364	1	0	0	0	0	1	0	0	0	1287	1145	40	1	497	1	BACE2	21	42609525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	889733	42609525	5520370	14537	38039											
BACE2	25825	broad.mit.edu	37	chr21	42622809	42622809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactccagcaggtcattccGtatcacaatcctgcctcagg	10	9	8	14	1	3	0	3	0	0	0	6	1	6	0	4	2	3	2	4	2	3	2	rs149731757		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42622809G>A	ENST00000330333.6	+	7	1578	c.1115G>A	c.(1114-1116)cGt>cAt	p.R372H	BACE2_ENST00000347667.5_Intron|BACE2_ENST00000466122.1_3'UTR|BACE2_ENST00000328735.6_Missense_Mutation_p.R372H	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2	372					membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGGTCATTCCGTATCACAATC	0.468													A	42622809	G	A	42622809	3	1	364	1	0	0	0	0	1	0	0	0	1287	1145	40	1	1141	1	BACE2	21	42622809	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13284	42622809	5507086	14538	38040											
FAM3B	54097	broad.mit.edu	37	chr21	42729091	42729091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggcctgcagagatccaGatagaaggctgcatacccaa	12	6	12	11	0	0	3	0	0	0	3	1	4	1	3	3	3	3	4	3	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42729091G>A	ENST00000398652.3	+	9	858	c.792G>A	c.(790-792)caG>caA	p.Q264Q	FAM3B_ENST00000398647.3_Silent_p.Q177Q|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Silent_p.Q225Q|FAM3B_ENST00000398646.3_Silent_p.Q248Q			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	225					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CAGAGATCCAGATAGAAGGCT	0.398													A	42729091	G	A	42729091	2	1	364	1	0	0	0	0	0	0	0	1	5608	933	33	2		2	FAM3B	21	42729091	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106282	42729091	5400804	14539	38041											
MX1	4599	broad.mit.edu	37	chr21	42821137	42821137	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagagctgccaggctttgtGaattacaggacatttgagac	12	10	12	7	0	0	3	0	2	0	2	0	6	0	4	1	2	3	2	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:42821137G>A	ENST00000398600.2	+	16	2372	c.1347G>A	c.(1345-1347)gtG>gtA	p.V449V	MX1_ENST00000398598.3_Silent_p.V449V|MX1_ENST00000288383.6_Silent_p.V426V|MX1_ENST00000455164.2_Silent_p.V449V	NM_001144925.1	NP_001138397.1	P20591	MX1_HUMAN	myxovirus (influenza virus) resistance 1, interferon-inducible protein p78 (mouse)	449					induction of apoptosis|response to virus|type I interferon-mediated signaling pathway	cytosol	GTP binding|GTPase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	27		Prostate(19;3.18e-07)|all_epithelial(19;0.0277)				CAGGCTTTGTGAATTACAGGA	0.423													A	42821137	G	A	42821137	2	1	364	1	0	0	0	0	0	0	0	1	10073	1277	45	2		2	MX1	21	42821137	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92046	42821137	5308758	14540	38042											
RIPK4	54101	broad.mit.edu	37	chr21	43161219	43161219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctccgagtgcccgtgggCggcagccaggtgcagcgccg	5	4	16	16	5	0	0	0	0	0	0	1	1	1	0	5	3	4	2	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161219C>T	ENST00000352483.2	-	9	2342	c.2278G>A	c.(2278-2280)Gcc>Acc	p.A760T	RIPK4_ENST00000542057.1_Missense_Mutation_p.A649T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A712T|RIPK4_ENST00000544709.1_Missense_Mutation_p.A649T|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	712						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCGTGGGCGGCAGCCAGG	0.687													T	43161219	C	T	43161219	3	4	364	1	0	0	0	0	1	0	0	0	13474	768	27	1	224	1	RIPK4	21	43161219	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340082	43161219	4968676	14541	38043											
RIPK4	54101	broad.mit.edu	37	chr21	43161513	43161513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacgcggtagtgcccgcGctgtgcggccaggtgcaatg	5	6	17	13	5	0	0	0	0	0	0	0	0	0	0	3	4	3	3	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161513G>A	ENST00000352483.2	-	9	2048	c.1984C>T	c.(1984-1986)Cgc>Tgc	p.R662C	RIPK4_ENST00000542057.1_Missense_Mutation_p.R551C|RIPK4_ENST00000332512.3_Missense_Mutation_p.R614C|RIPK4_ENST00000544709.1_Missense_Mutation_p.R551C			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	614						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TAGTGCCCGCGCTGTGCGGCC	0.687													A	43161513	G	A	43161513	3	1	364	1	0	0	0	0	1	0	0	0	13474	1087	38	1	518	1	RIPK4	21	43161513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	294	43161513	4968382	14542	38044											
RIPK4	54101	broad.mit.edu	37	chr21	43161661	43161661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggcatccttgccctgcagGctcacgtccacgcctcggcg	5	7	11	18	4	1	0	1	0	0	0	4	0	3	0	4	3	2	3	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43161661G>A	ENST00000352483.2	-	9	1900	c.1836C>T	c.(1834-1836)agC>agT	p.S612S	RIPK4_ENST00000542057.1_Silent_p.S501S|RIPK4_ENST00000332512.3_Silent_p.S564S|RIPK4_ENST00000544709.1_Silent_p.S501S			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	564						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGCCCTGCAGGCTCACGTCCA	0.672													A	43161661	G	A	43161661	2	1	364	1	0	0	0	0	0	0	0	1	13474	1194	42	2		2	RIPK4	21	43161661	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148	43161661	4968234	14543	38045											
PRDM15	63977	broad.mit.edu	37	chr21	43221566	43221566	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctccccaggggcgtgatgGagttgaccagggtcgtcagg	6	7	18	10	2	1	2	1	2	0	0	3	3	2	3	3	6	0	2	3	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43221566G>T	ENST00000422911.1	-	25	3532	c.3431C>A	c.(3430-3432)tCc>tAc	p.S1144Y	PRDM15_ENST00000269844.3_Missense_Mutation_p.S1453Y|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.S1107Y|PRDM15_ENST00000447207.2_Missense_Mutation_p.S1087Y|PRDM15_ENST00000398548.1_Missense_Mutation_p.S1124Y	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1453					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						GGGCGTGATGGAGTTGACCAG	0.637													T	43221566	G	T	43221566	3	4	364	1	0	0	0	0	1	0	0	0	12542	1174	41	4	169	4	PRDM15	21	43221566	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	59905	43221566	4908329	14544	38046											
PRDM15	63977	broad.mit.edu	37	chr21	43222908	43222908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcggaattggtctcgtcGcctacactgcctgtgaactc	7	11	10	13	3	1	1	0	1	1	0	4	2	1	2	2	2	4	0	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43222908G>A	ENST00000422911.1	-	24	3179	c.3078C>T	c.(3076-3078)ggC>ggT	p.G1026G	PRDM15_ENST00000269844.3_Silent_p.G1335G|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Silent_p.G989G|PRDM15_ENST00000447207.2_Silent_p.G969G|PRDM15_ENST00000398548.1_Silent_p.G1006G	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G1335G(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						TGGTCTCGTCGCCTACACTGC	0.542													A	43222908	G	A	43222908	2	1	364	1	0	0	0	0	0	0	0	1	12542	1074	38	1		1	PRDM15	21	43222908	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1342	43222908	4906987	14545	38047											
PRDM15	63977	broad.mit.edu	37	chr21	43242388	43242388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggtcatccatcaacgcGatgtcctggaaaacagccac	11	8	10	12	2	2	0	2	0	0	0	4	2	4	1	3	3	3	0	3	3	3	0	rs139162933	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43242388G>A	ENST00000422911.1	-	16	2039	c.1938C>T	c.(1936-1938)atC>atT	p.I646I	PRDM15_ENST00000269844.3_Silent_p.I955I|PRDM15_ENST00000538201.1_Silent_p.I609I|PRDM15_ENST00000447207.2_Silent_p.I589I|PRDM15_ENST00000398548.1_Silent_p.I626I	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	955					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCATCAACGCGATGTCCTGGA	0.527													A	43242388	G	A	43242388	2	1	364	1	0	0	0	0	0	0	0	1	12542	1048	37	1		1	PRDM15	21	43242388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19480	43242388	4887507	14546	38048											
C2CD2	25966	broad.mit.edu	37	chr21	43309427	43309427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccgccggcggaagaacaGctttgcacctttccttagaa	10	9	10	12	3	0	2	0	0	0	2	1	3	1	3	4	2	4	2	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43309427G>A	ENST00000380486.3	-	14	2138	c.1897C>T	c.(1897-1899)Ctg>Ttg	p.L633L	C2CD2_ENST00000329623.7_Silent_p.L478L	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	633						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						CGGAAGAACAGCTTTGCACCT	0.557													A	43309427	G	A	43309427	2	1	364	1	0	0	0	0	0	0	0	1	2173	962	34	2		2	C2CD2	21	43309427	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67039	43309427	4820468	14547	38049											
C2CD2	25966	broad.mit.edu	37	chr21	43338295	43338295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaatgcttcaagatgtcCttgagaacgtcagacatcgc	12	9	9	11	2	2	3	2	1	0	3	4	4	3	3	2	0	2	1	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43338295C>A	ENST00000380486.3	-	5	880	c.639G>T	c.(637-639)aaG>aaT	p.K213N	C2CD2_ENST00000329623.7_Missense_Mutation_p.K58N	NM_015500.1	NP_056315.1	Q9Y426	CU025_HUMAN	C2 calcium-dependent domain containing 2	213						cytosol|extracellular region|nucleus				endometrium(2)|kidney(1)|large_intestine(4)|lung(3)|ovary(3)|prostate(1)|stomach(1)	15						TCAAGATGTCCTTGAGAACGT	0.507													A	43338295	C	A	43338295	3	1	364	1	0	0	0	0	1	0	0	0	2173	680	24	4	1491	4	C2CD2	21	43338295	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	28868	43338295	4791600	14548	38050											
UMODL1	89766	broad.mit.edu	37	chr21	43524044	43524044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagctgagaatgcagatcGtgtctctccaggcgggaagt	10	8	15	8	2	1	2	0	1	1	2	4	5	2	4	1	3	2	2	1	3	3	0	rs142481877		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524044G>A	ENST00000400424.2	+	9	1546	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	UMODL1_ENST00000400427.1_Missense_Mutation_p.V384M|C21orf128_ENST00000329015.2_Silent_p.H63H|UMODL1_ENST00000408989.2_Missense_Mutation_p.V456M|UMODL1_ENST00000408910.2_Missense_Mutation_p.V456M	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCAGATCGTGTCTCTCCA	0.592													A	43524044	G	A	43524044	3	1	364	1	0	0	0	0	1	0	0	0	17082	1145	40	1	1400	1	UMODL1	21	43524044	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185749	43524044	4605851	14549	38051											
UMODL1	89766	broad.mit.edu	37	chr21	43524161	43524161	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctgttggcaagcacaGtgttccagattgaccggcag	9	8	12	12	1	0	2	0	1	0	1	1	2	1	2	4	2	2	5	4	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43524161G>T	ENST00000400424.2	+	9	1663	c.1267G>T	c.(1267-1269)Gtg>Ttg	p.V423L	UMODL1_ENST00000400427.1_Missense_Mutation_p.V423L|C21orf128_ENST00000329015.2_Intron|UMODL1_ENST00000408989.2_Missense_Mutation_p.V495L|UMODL1_ENST00000408910.2_Missense_Mutation_p.V495L	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		SEA 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GGCAAGCACAGTGTTCCAGAT	0.622													T	43524161	G	T	43524161	3	4	364	1	0	0	0	0	1	0	0	0	17082	1029	36	4	1517	4	UMODL1	21	43524161	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117	43524161	4605734	14550	38052											
ABCG1	9619	broad.mit.edu	37	chr21	43711733	43711733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtggcacagtccctgggCctgctgatcggagccgcctc	4	8	14	15	2	0	1	0	1	0	0	3	2	1	2	4	4	2	2	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43711733C>T	ENST00000398437.1	+	14	2242	c.2094C>T	c.(2092-2094)ggC>ggT	p.G698G	ABCG1_ENST00000347800.2_Silent_p.G537G|ABCG1_ENST00000340588.4_Silent_p.G660G|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000343687.3_Silent_p.G551G|ABCG1_ENST00000361802.2_Silent_p.G552G|ABCG1_ENST00000398457.2_Silent_p.G542G|ABCG1_ENST00000398449.3_Silent_p.G540G			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	552					amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	AGTCCCTGGGCCTGCTGATCG	0.667													T	43711733	C	T	43711733	2	4	364	1	0	0	0	0	0	0	0	1	68	726	26	2		2	ABCG1	21	43711733	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	187572	43711733	4418162	14551	38053											
TMPRSS3	64699	broad.mit.edu	37	chr21	43795969	43795969	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacacaccaggggccccccGctgtccccctgggtgacagg	6	5	13	17	1	0	2	0	2	0	0	1	2	1	2	6	4	0	1	6	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43795969G>A	ENST00000291532.3	-	12	2158	c.1203C>T	c.(1201-1203)agC>agT	p.S401S	TMPRSS3_ENST00000398405.1_Silent_p.S398S|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.S400S|TMPRSS3_ENST00000380399.1_Silent_p.S485S	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	401	Peptidase S1.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						GGGGCCCCCCGCTGTCCCCCT	0.597													A	43795969	G	A	43795969	2	1	364	1	0	0	0	0	0	0	0	1	16348	1078	38	1		1	TMPRSS3	21	43795969	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84236	43795969	4333926	14552	38054											
TMPRSS3	64699	broad.mit.edu	37	chr21	43808547	43808547	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcacaggcaacatttgcGtagtgacccttccagtcatc	9	10	10	12	1	1	1	1	1	0	0	3	1	2	1	2	2	2	3	2	2	2	3	rs142784113		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43808547G>A	ENST00000291532.3	-	5	1366	c.411C>T	c.(409-411)taC>taT	p.Y137Y	TMPRSS3_ENST00000398405.1_Silent_p.Y135Y|TMPRSS3_ENST00000398397.3_Silent_p.Y137Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Silent_p.Y137Y|TMPRSS3_ENST00000380399.1_Silent_p.Y221Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	137	SRCR.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAACATTTGCGTAGTGACCCT	0.512													A	43808547	G	A	43808547	2	1	364	1	0	0	0	0	0	0	0	1	16348	1140	40	1		1	TMPRSS3	21	43808547	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12578	43808547	4321348	14553	38055											
TMPRSS3	64699	broad.mit.edu	37	chr21	43809106	43809106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgagctatcagctcgataCacttaaaggatgagcgacat	14	9	9	9	3	1	1	1	1	0	0	3	5	1	2	0	1	4	2	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43809106C>T	ENST00000291532.3	-	4	1209	c.254G>A	c.(253-255)tGt>tAt	p.C85Y	TMPRSS3_ENST00000398405.1_Missense_Mutation_p.C83Y|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000474596.1_5'UTR|TMPRSS3_ENST00000433957.2_Missense_Mutation_p.C85Y|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.C169Y	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	85	LDL-receptor class A.				cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						CAGCTCGATACACTTAAAGGA	0.522													T	43809106	C	T	43809106	3	4	364	1	0	0	0	0	1	0	0	0	16348	478	17	2	1233	2	TMPRSS3	21	43809106	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	559	43809106	4320789	14554	38056											
UBASH3A	53347	broad.mit.edu	37	chr21	43829594	43829594	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaggagtatgcccttttCctctgtccaacggggcccct	5	10	9	17	1	1	0	0	0	1	0	3	1	3	1	7	3	2	1	7	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829594C>A	ENST00000319294.6	+	3	262	c.231C>A	c.(229-231)ttC>ttA	p.F77L	UBASH3A_ENST00000398367.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000450356.1_Missense_Mutation_p.F77L|UBASH3A_ENST00000291535.6_Missense_Mutation_p.F77L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	77						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ATGCCCTTTTCCTCTGTCCAA	0.557													A	43829594	C	A	43829594	3	1	364	1	0	0	0	0	1	0	0	0	16941	854	30	4	241	4	UBASH3A	21	43829594	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20488	43829594	4300301	14555	38057											
UBASH3A	53347	broad.mit.edu	37	chr21	43829702	43829702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcttcccacacgtgacactCtgtgacttcttcacggtgag	7	12	9	13	2	4	3	1	3	3	0	5	3	5	3	1	1	0	0	1	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43829702C>T	ENST00000319294.6	+	3	370	c.339C>T	c.(337-339)ctC>ctT	p.L113L	UBASH3A_ENST00000398367.1_Silent_p.L113L|UBASH3A_ENST00000450356.1_Silent_p.L113L|UBASH3A_ENST00000291535.6_Silent_p.L113L	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	113						cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						ACGTGACACTCTGTGACTTCT	0.522													T	43829702	C	T	43829702	2	4	364	1	0	0	0	0	0	0	0	1	16941	900	32	2		2	UBASH3A	21	43829702	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108	43829702	4300193	14556	38058											
UBASH3A	53347	broad.mit.edu	37	chr21	43857619	43857619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggacgcgctactggacagtgGtatcagaatcagctctgtgt	9	10	13	9	2	3	1	2	0	1	1	3	3	3	3	0	3	2	3	0	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43857619G>T	ENST00000319294.6	+	11	1446	c.1415G>T	c.(1414-1416)gGt>gTt	p.G472V	UBASH3A_ENST00000398367.1_Missense_Mutation_p.G434V|UBASH3A_ENST00000291535.6_Missense_Mutation_p.G434V	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	472	Phosphatase-like.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CTGGACAGTGGTATCAGAATC	0.537													T	43857619	G	T	43857619	3	4	364	1	0	0	0	0	1	0	0	0	16941	1261	44	4	1457	4	UBASH3A	21	43857619	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27917	43857619	4272276	14557	38059											
RSPH1	89765	broad.mit.edu	37	chr21	43897497	43897497	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caattcagtgatttgggtagCtttccattttggaacaacag	11	14	9	7	0	1	1	1	1	0	0	2	2	2	2	1	2	3	2	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43897497C>A	ENST00000291536.3	-	7	798	c.631G>T	c.(631-633)Gct>Tct	p.A211S	RSPH1_ENST00000398352.3_Missense_Mutation_p.A173S	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	211					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						ATTTGGGTAGCTTTCCATTTT	0.453													A	43897497	C	A	43897497	3	1	364	1	0	0	0	0	1	0	0	0	13793	797	28	4	310	4	RSPH1	21	43897497	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39878	43897497	4232398	14558	38060											
RSPH1	89765	broad.mit.edu	37	chr21	43913094	43913094	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctggccatgtcttttaccGaattcgtagctcccttcgta	7	14	7	13	3	1	0	0	0	1	0	4	1	2	0	4	1	2	3	4	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43913094G>A	ENST00000291536.3	-	2	317	c.150C>T	c.(148-150)ttC>ttT	p.F50F	RSPH1_ENST00000398352.3_Intron	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	50					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						GTCTTTTACCGAATTCGTAGC	0.507													A	43913094	G	A	43913094	2	1	364	1	0	0	0	0	0	0	0	1	13793	1049	37	1		1	RSPH1	21	43913094	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15597	43913094	4216801	14559	38061											
SLC37A1	54020	broad.mit.edu	37	chr21	43963669	43963669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcgtcgtgcctggagccatCgtggcagccatggggatagt	6	10	15	10	3	0	0	0	0	0	0	3	2	0	2	3	4	3	1	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43963669C>T	ENST00000352133.2	+	8	1669	c.687C>T	c.(685-687)atC>atT	p.I229I	SLC37A1_ENST00000398341.3_Silent_p.I229I			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	229					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CTGGAGCCATCGTGGCAGCCA	0.597													T	43963669	C	T	43963669	2	4	364	1	0	0	0	0	0	0	0	1	14691	874	31	1		1	SLC37A1	21	43963669	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50575	43963669	4166226	14560	38062											
SLC37A1	54020	broad.mit.edu	37	chr21	43987140	43987140	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagtgggccctacacacTcatcaccaccgccgtctccg	7	7	9	18	3	4	0	3	0	1	0	5	0	4	0	5	2	1	0	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:43987140T>G	ENST00000352133.2	+	16	2298	c.1316T>G	c.(1315-1317)cTc>cGc	p.L439R	SLC37A1_ENST00000398341.3_Missense_Mutation_p.L439R			P57057	GLPT_HUMAN	solute carrier family 37 (glucose-6-phosphate transporter), member 1	439					carbohydrate transport|transmembrane transport	integral to membrane				breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(3)	15						CCCTACACACTCATCACCACC	0.622													G	43987140	T	G	43987140	3	3	364	1	0	0	0	0	1	0	0	0	14691	1551	54	5	1374	5	SLC37A1	21	43987140	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23471	43987140	4142755	14561	38063											
PDE9A	5152	broad.mit.edu	37	chr21	44189185	44189185	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcaccgttcatggacCgagacaaagtgaccaaggcc	11	6	12	12	2	1	2	1	1	0	1	1	4	1	3	4	3	0	2	4	3	2	1	rs140304122		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44189185C>T	ENST00000291539.6	+	17	1570	c.1510C>T	c.(1510-1512)Cga>Tga	p.R504*	PDE9A_ENST00000398236.3_Nonsense_Mutation_p.R418*|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000398225.3_Nonsense_Mutation_p.R463*|PDE9A_ENST00000349112.3_Nonsense_Mutation_p.R376*|PDE9A_ENST00000335512.4_Nonsense_Mutation_p.R444*|PDE9A_ENST00000328862.6_Nonsense_Mutation_p.R478*|PDE9A_ENST00000398232.3_Nonsense_Mutation_p.R437*|PDE9A_ENST00000398224.3_Nonsense_Mutation_p.R377*|PDE9A_ENST00000380328.2_Nonsense_Mutation_p.R451*|PDE9A_ENST00000398227.3_Nonsense_Mutation_p.R344*|PDE9A_ENST00000335440.6_Nonsense_Mutation_p.R402*|PDE9A_ENST00000398229.3_Nonsense_Mutation_p.R370*|PDE9A_ENST00000539837.1_Nonsense_Mutation_p.R376*|PDE9A_ENST00000398234.3_Nonsense_Mutation_p.R403*	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	504	Catalytic (By similarity).				platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GTTCATGGACCGAGACAAAGT	0.507													T	44189185	C	T	44189185	4	4	364	1	0	0	0	0	0	1	0	0	11731	644	23	1	1656	1	PDE9A	21	44189185	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	202045	44189185	3940710	14562	38064											
WDR4	10785	broad.mit.edu	37	chr21	44283614	44283614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccgtgtggctccagcaccGaaaaggagtagacgtctcca	11	6	11	13	3	1	1	0	0	1	1	3	3	2	2	4	2	1	3	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44283614G>A	ENST00000398208.2	-	4	448	c.389C>T	c.(388-390)tCg>tTg	p.S130L	WDR4_ENST00000492742.1_5'UTR|WDR4_ENST00000330317.2_Missense_Mutation_p.S130L	NM_001260474.1|NM_001260475.1|NM_001260476.1|NM_018669.5	NP_001247403.1|NP_001247404.1|NP_001247405.1|NP_061139.2	P57081	WDR4_HUMAN	WD repeat domain 4	130					tRNA modification	cytoplasm|nucleoplasm	protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|ovary(2)	11				Colorectal(79;0.0165)|Lung(125;0.0484)|STAD - Stomach adenocarcinoma(101;0.0624)|COAD - Colon adenocarcinoma(84;0.128)|LUSC - Lung squamous cell carcinoma(216;0.244)		CTCCAGCACCGAAAAGGAGTA	0.592													A	44283614	G	A	44283614	3	1	364	1	0	0	0	0	1	0	0	0	17395	1059	37	1	881	1	WDR4	21	44283614	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94429	44283614	3846281	14563	38065											
NDUFV3	4731	broad.mit.edu	37	chr21	44323306	44323306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagatgtagtggaaccaAaggagaggggcaagctccta	13	6	13	9	0	0	2	0	0	0	2	2	4	2	3	3	4	2	3	3	4	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44323306A>G	ENST00000354250.2	+	3	253	c.184A>G	c.(184-186)Aag>Gag	p.K62E	NDUFV3_ENST00000460259.1_3'UTR|NDUFV3_ENST00000340344.4_Intron	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	AGTGGAACCAAAGGAGAGGGG	0.418													G	44323306	A	G	44323306	3	3	364	1	0	0	0	0	1	0	0	0	10377	15	1	3	194	3	NDUFV3	21	44323306	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39692	44323306	3806589	14564	38066											
PKNOX1	5316	broad.mit.edu	37	chr21	44438312	44438312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacacagacattgtcgcCtgggacaattaggatccaga	12	8	11	10	1	1	2	1	0	0	2	3	4	2	4	2	3	0	0	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44438312C>T	ENST00000291547.5	+	7	903	c.692C>T	c.(691-693)cCt>cTt	p.P231L	PKNOX1_ENST00000432907.2_Missense_Mutation_p.P114L	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	231							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						ACATTGTCGCCTGGGACAATT	0.542													T	44438312	C	T	44438312	3	4	364	1	0	0	0	0	1	0	0	0	12059	681	24	2	714	2	PKNOX1	21	44438312	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	115006	44438312	3691583	14565	38067											
PKNOX1	5316	broad.mit.edu	37	chr21	44445056	44445056	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactactccaagtcaacaacTggtaaggtgccctgcttcct	10	10	7	14	0	1	0	1	0	0	0	3	0	3	0	3	2	5	2	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44445056T>G	ENST00000291547.5	+	9	1136	c.925T>G	c.(925-927)Tgg>Ggg	p.W309G	PKNOX1_ENST00000607150.1_3'UTR|PKNOX1_ENST00000432907.2_Splice_Site_p.W192G	NM_004571.3	NP_004562.2	P55347	PKNX1_HUMAN	PBX/knotted 1 homeobox 1	309							sequence-specific DNA binding			cervix(3)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(8)|ovary(1)|prostate(1)	22						AGTCAACAACTGGTAAGGTGC	0.438													G	44445056	T	G	44445056	5	3	364	1	0	0	0	0	0	0	1	0	12059	1594	55	5	955	5	PKNOX1	21	44445056	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6744	44445056	3684839	14566	38068											
CBS	875	broad.mit.edu	37	chr21	44484021	44484021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	accactcaccctgcatccagGacacttctccttcagcttcc	8	10	4	19	0	3	0	2	0	1	0	6	1	5	1	5	1	2	2	5	1	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44484021G>A	ENST00000398165.3	-	9	1076	c.817C>T	c.(817-819)Cct>Tct	p.P273S	CBS_ENST00000398158.1_Missense_Mutation_p.P273S|CBS_ENST00000352178.5_Missense_Mutation_p.P273S|CBS_ENST00000544202.1_Missense_Mutation_p.P185S|CBS_ENST00000398168.1_Missense_Mutation_p.P273S|CBS_ENST00000359624.3_Missense_Mutation_p.P273S	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	273					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	CTGCATCCAGGACACTTCTCC	0.627													A	44484021	G	A	44484021	3	1	364	1	0	0	0	0	1	0	0	0	2737	1174	41	2	874	2	CBS	21	44484021	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38965	44484021	3645874	14567	38069											
CBS	875	broad.mit.edu	37	chr21	44486415	44486415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcgtcccgtcgcgctcaGcatcctcaatcatccgcagg	7	8	9	17	5	4	0	4	0	0	0	8	0	7	0	3	1	2	3	3	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44486415G>A	ENST00000398165.3	-	5	648	c.389C>T	c.(388-390)gCt>gTt	p.A130V	CBS_ENST00000398158.1_Missense_Mutation_p.A130V|CBS_ENST00000352178.5_Missense_Mutation_p.A130V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Missense_Mutation_p.A42V|CBS_ENST00000398168.1_Missense_Mutation_p.A130V|CBS_ENST00000359624.3_Missense_Mutation_p.A130V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	130					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	GTCGCGCTCAGCATCCTCAAT	0.647													A	44486415	G	A	44486415	3	1	364	1	0	0	0	0	1	0	0	0	2737	971	34	2	1318	2	CBS	21	44486415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2394	44486415	3643480	14568	38070											
CBS	875	broad.mit.edu	37	chr21	44488723	44488723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagatttttggagattttGccctgaaacagaggagtcca	12	11	11	7	0	0	4	0	1	0	3	1	6	1	5	2	2	2	1	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44488723G>A	ENST00000398165.3	-	4	471	c.212C>T	c.(211-213)gCa>gTa	p.A71V	CBS_ENST00000398158.1_Missense_Mutation_p.A71V|CBS_ENST00000352178.5_Missense_Mutation_p.A71V|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_5'UTR|CBS_ENST00000398168.1_Missense_Mutation_p.A71V|CBS_ENST00000359624.3_Missense_Mutation_p.A71V	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	71					cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGGAGATTTTGCCCTGAAACA	0.418													A	44488723	G	A	44488723	3	1	364	1	0	0	0	0	1	0	0	0	2737	1319	46	2	1499	2	CBS	21	44488723	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2308	44488723	3641172	14569	38071											
U2AF1	7307	broad.mit.edu	37	chr21	44513286	44513286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccgccacctccaccacCgccaccgccaccgccacgac	7	2	6	26	6	0	0	0	0	0	0	2	1	2	0	12	0	0	0	12	0	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44513286C>T	ENST00000459639.1	-	7	1454	c.430G>A	c.(430-432)Ggt>Agt	p.G144S	U2AF1_ENST00000380276.2_Missense_Mutation_p.G217S|U2AF1_ENST00000291552.4_Missense_Mutation_p.G217S|U2AF1_ENST00000398137.1_Missense_Mutation_p.G144S			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	217	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						cctccaccaccgccaccgcca	0.577			Mis		"CLL, MDS"								T	44513286	C	T	44513286	3	4	364	1	0	0	0	0	1	0	0	0	16923	652	23	1	77	1	U2AF1	21	44513286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24563	44513286	3616609	14570	38072											
U2AF1	7307	broad.mit.edu	37	chr21	44524474	44524474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcacctgtctccatgaCgacatgctccaattttgaaa	12	10	8	11	1	1	3	0	2	1	1	3	5	2	3	3	0	2	2	3	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44524474C>T	ENST00000291552.4	-	2	175	c.83G>A	c.(82-84)cGt>cAt	p.R28H	U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000380276.2_Missense_Mutation_p.R28H|U2AF1_ENST00000459639.1_5'UTR|U2AF1_ENST00000398137.1_5'UTR	NM_006758.2	NP_006749.1	Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	28					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GTCTCCATGACGACATGCTCC	0.363			Mis		"CLL, MDS"								T	44524474	C	T	44524474	3	4	364	1	0	0	0	0	1	0	0	0	16923	536	19	1	738	1	U2AF1	21	44524474	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11188	44524474	3605421	14571	38073											
SIK1	150094	broad.mit.edu	37	chr21	44839825	44839825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattccgatactccttgaGccgctcaaggaggaggtaat	10	9	12	10	2	1	1	1	1	0	0	3	4	3	3	3	4	2	3	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:44839825G>A	ENST00000270162.6	-	9	1165	c.1033C>T	c.(1033-1035)Ctc>Ttc	p.L345F		NM_173354.3	NP_775490.2	P57059	SIK1_HUMAN	salt-inducible kinase 1	345					anoikis|cell cycle|cell differentiation|intracellular protein kinase cascade|multicellular organismal development|regulation of cell differentiation|regulation of mitotic cell cycle	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|testis(2)|urinary_tract(1)	21						TACTCCTTGAGCCGCTCAAGG	0.612													A	44839825	G	A	44839825	3	1	364	1	0	0	0	0	1	0	0	0	14411	971	34	2	1342	2	SIK1	21	44839825	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	315351	44839825	3290070	14572	38074											
PDXK	8566	broad.mit.edu	37	chr21	45165991	45165991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgggtgacaagtgggaCggcgaaggctcgatggtgag	8	8	19	6	3	1	2	0	2	1	0	2	5	1	3	0	5	0	1	0	5	2	1	rs117861720	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45165991C>T	ENST00000291565.4	+	5	546	c.363C>T	c.(361-363)gaC>gaT	p.D121D	PDXK_ENST00000468090.1_Silent_p.D93D|PDXK_ENST00000467908.1_Silent_p.D81D	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	121					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	ACAAGTGGGACGGCGAAGGCT	0.498													T	45165991	C	T	45165991	2	4	364	1	0	0	0	0	0	0	0	1	11773	535	19	1		1	PDXK	21	45165991	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	326166	45165991	2963904	14573	38075											
PDXK	8566	broad.mit.edu	37	chr21	45175625	45175625	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaccacgttctgcagaGgaccatccagtgtgcaaaag	11	8	10	12	1	1	1	0	0	1	1	2	2	2	2	3	1	3	4	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45175625G>T	ENST00000291565.4	+	10	989	c.806G>T	c.(805-807)aGg>aTg	p.R269M	PDXK_ENST00000468090.1_Missense_Mutation_p.R241M|PDXK_ENST00000467908.1_Missense_Mutation_p.R229M	NM_003681.4	NP_003672.1	O00764	PDXK_HUMAN	pyridoxal (pyridoxine, vitamin B6) kinase	269					cell proliferation|pyridoxal 5'-phosphate salvage	cytosol	ATP binding|lithium ion binding|magnesium ion binding|potassium ion binding|protein homodimerization activity|pyridoxal kinase activity|pyridoxal phosphate binding|sodium ion binding|zinc ion binding			endometrium(1)|lung(2)|ovary(1)|urinary_tract(1)	5				Colorectal(79;0.109)|READ - Rectum adenocarcinoma(84;0.161)|STAD - Stomach adenocarcinoma(101;0.18)	Pyridoxal(DB00147)|Pyridoxine(DB00165)	GTTCTGCAGAGGACCATCCAG	0.637													T	45175625	G	T	45175625	3	4	364	1	0	0	0	0	1	0	0	0	11773	1000	35	4	844	4	PDXK	21	45175625	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9634	45175625	2954270	14574	38076											
CSTB	1476	broad.mit.edu	37	chr21	45194539	45194539	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaggcccacactctacCttgatgaagtagtttgtccc	8	12	8	13	0	1	3	0	3	1	0	3	3	3	3	4	1	1	2	4	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45194539C>A	ENST00000291568.5	-	2	343	c.168G>T	c.(166-168)aaG>aaT	p.K56N		NM_000100.3	NP_000091.1	P04080	CYTB_HUMAN	cystatin B (stefin B)	56						cytoplasm|nucleolus	cysteine-type endopeptidase inhibitor activity|protease binding			lung(1)|prostate(1)	2				STAD - Stomach adenocarcinoma(101;0.168)		CACACTCTACCTTGATGAAGT	0.587													A	45194539	C	A	45194539	5	1	364	1	0	0	0	0	0	0	1	0	4015	695	24	4	136	4	CSTB	21	45194539	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18914	45194539	2935356	14575	38077											
TRAPPC10	7109	broad.mit.edu	37	chr21	45479009	45479009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcctttgttttcgagaTgctgcagcagttcgaggacg	6	13	13	9	3	0	1	0	0	0	1	2	4	0	2	1	1	4	6	1	1	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45479009T>C	ENST00000291574.4	+	6	879	c.704T>C	c.(703-705)aTg>aCg	p.M235T	TRAPPC10_ENST00000380221.3_Missense_Mutation_p.M235T	NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	235					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						GTTTTCGAGATGCTGCAGCAG	0.473													C	45479009	T	C	45479009	3	2	364	1	0	0	0	0	1	0	0	0	16558	1464	51	3	726	3	TRAPPC10	21	45479009	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	284470	45479009	2650886	14576	38078											
TRAPPC10	7109	broad.mit.edu	37	chr21	45518355	45518355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctcagacctcttggaggtgGataaagatgaagcactgact	12	10	11	8	0	2	4	1	2	2	2	3	6	2	6	1	3	1	1	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45518355G>A	ENST00000291574.4	+	21	3461	c.3286G>A	c.(3286-3288)Gat>Aat	p.D1096N		NM_003274.4	NP_003265.3	P48553	TPC10_HUMAN	trafficking protein particle complex 10	1096					vesicle-mediated transport	Golgi apparatus|integral to membrane	binding|sodium ion transmembrane transporter activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(4)	41						CTTGGAGGTGGATAAAGATGA	0.512													A	45518355	G	A	45518355	3	1	364	1	0	0	0	0	1	0	0	0	16558	1174	41	2	3368	2	TRAPPC10	21	45518355	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39346	45518355	2611540	14577	38079											
PWP2	5822	broad.mit.edu	37	chr21	45542167	45542167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagacgggctccattgaGggcaggcatgacctcaagac	10	6	14	11	1	1	4	1	2	0	2	2	4	2	4	2	3	1	4	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45542167G>T	ENST00000291576.7	+	14	1873	c.1746G>T	c.(1744-1746)gaG>gaT	p.E582D		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	582						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GCTCCATTGAGGGCAGGCATG	0.587													T	45542167	G	T	45542167	3	4	364	1	0	0	0	0	1	0	0	0	12932	991	35	4	1800	4	PWP2	21	45542167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23812	45542167	2587728	14578	38080											
PWP2	5822	broad.mit.edu	37	chr21	45544500	45544500	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactctgcagacggccacagCatcctggcgggaggcatgtc	8	7	13	13	2	1	1	0	0	1	1	3	2	2	2	2	4	3	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45544500C>T	ENST00000291576.7	+	15	1984	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	619						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		ACGGCCACAGCATCCTGGCGG	0.582													T	45544500	C	T	45544500	2	4	364	1	0	0	0	0	0	0	0	1	12932	709	25	2		2	PWP2	21	45544500	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2333	45544500	2585395	14579	38081											
ICOSLG	23308	broad.mit.edu	37	chr21	45656874	45656874	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagcgcagggagaagtcGccccgcagcatgccggccgg	10	2	15	14	5	0	1	0	0	0	1	1	2	0	1	4	3	4	3	4	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45656874G>A	ENST00000407780.3	-	3	409	c.282C>T	c.(280-282)ggC>ggT	p.G94G	ICOSLG_ENST00000400379.3_Silent_p.G94G|ICOSLG_ENST00000344330.4_Silent_p.G94G|ICOSLG_ENST00000400377.3_Intron	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	94	Ig-like V-type.				B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		GGGAGAAGTCGCCCCGCAGCA	0.607													A	45656874	G	A	45656874	2	1	364	1	0	0	0	0	0	0	0	1	7545	1074	38	1		1	ICOSLG	21	45656874	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112374	45656874	2473021	14580	38082											
AIRE	326	broad.mit.edu	37	chr21	45713694	45713694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctcctggtgcgcgttGcggggtgtgcggagatggta	3	10	19	9	4	0	1	0	0	0	1	1	2	1	1	2	6	3	3	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45713694G>A	ENST00000291582.5	+	11	1428	c.1301G>A	c.(1300-1302)tGc>tAc	p.C434Y	AIRE_ENST00000329347.4_Missense_Mutation_p.A200T|AIRE_ENST00000355347.4_Missense_Mutation_p.C227Y	NM_000383.3	NP_000374.1	O43918	AIRE_HUMAN	autoimmune regulator	434					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|histone binding|transcription regulatory region DNA binding|translation regulator activity|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(1)	14				Colorectal(79;0.0806)		GGTGCGCGTTGCGGGGTGTGC	0.706									Autoimmune PolyEndocrinopathy Candidiasis Ectodermal Dystrophy				A	45713694	G	A	45713694	3	1	364	1	0	0	0	0	1	0	0	0	437	1319	46	2	1631	2	AIRE	21	45713694	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56820	45713694	2416201	14581	38083											
PFKL	5211	broad.mit.edu	37	chr21	45745112	45745112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagggcaagggcgtcttcGactgcaggaccaatgtcctg	9	7	14	11	2	1	1	0	0	1	1	3	3	2	2	2	3	1	2	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45745112G>A	ENST00000403390.1	+	20	2095	c.2095G>A	c.(2095-2097)Gac>Aac	p.D699N	PFKL_ENST00000349048.4_Missense_Mutation_p.D652N			P17858	K6PL_HUMAN	phosphofructokinase, liver	652					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		GGGCGTCTTCGACTGCAGGAC	0.622													A	45745112	G	A	45745112	3	1	364	1	0	0	0	0	1	0	0	0	11841	1058	37	1	2028	1	PFKL	21	45745112	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31418	45745112	2384783	14582	38084											
TRPM2	7226	broad.mit.edu	37	chr21	45784155	45784155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcacgggcctgagccagaAggtgaaaaaggttggtttcc	10	9	13	9	1	1	3	1	2	0	1	2	3	2	3	3	4	1	2	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45784155A>G	ENST00000397928.1	+	3	858	c.413A>G	c.(412-414)aAg>aGg	p.K138R	TRPM2_ENST00000300482.5_Missense_Mutation_p.K138R|TRPM2_ENST00000300481.9_Missense_Mutation_p.K138R|TRPM2_ENST00000397932.2_Missense_Mutation_p.K138R	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	138						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CTGAGCCAGAAGGTGAAAAAG	0.577													G	45784155	A	G	45784155	3	3	364	1	0	0	0	0	1	0	0	0	16687	72	3	3	423	3	TRPM2	21	45784155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	39043	45784155	2345740	14583	38085											
LRRC3	81543	broad.mit.edu	37	chr21	45876632	45876632	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcgccgcctgcccacaGccctgccggtgccctgacca	4	5	12	20	3	0	1	0	1	0	0	0	1	0	1	7	2	4	0	7	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45876632G>T	ENST00000291592.4	+	2	422	c.105G>T	c.(103-105)caG>caT	p.Q35H		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	35	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CCTGCCCACAGCCCTGCCGGT	0.701													T	45876632	G	T	45876632	3	4	364	1	0	0	0	0	1	0	0	0	9054	962	34	4	107	4	LRRC3	21	45876632	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92477	45876632	2253263	14584	38086											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45970949	45970949	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcaggaggaagaggcAcagcaagctggctggcagct	10	5	17	9	0	0	1	0	0	0	1	0	3	0	3	0	6	4	8	0	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:45970949A>G	ENST00000391621.1	-	1	439	c.393T>C	c.(391-393)tgT>tgC	p.C131C	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron|KRTAP10-2_ENST00000498210.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	131	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						AGGAAGAGGCACAGCAAGCTG	0.627													G	45970949	A	G	45970949	2	3	364	1	0	0	0	0	0	0	0	1	8567	157	6	3		3	KRTAP10-2	21	45970949	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	94317	45970949	2158946	14585	38087											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057875	46057875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcctgcttgctgcaccGcctcctgctgcagaccctcc	4	8	9	20	1	0	1	0	0	0	1	2	1	2	1	7	0	6	5	7	0	0	1	rs147625145	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46057875G>A	ENST00000380095.1	+	1	603	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	181	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TTGCTGCACCGCCTCCTGCTG	0.642													A	46057875	G	A	46057875	3	1	364	1	0	0	0	0	1	0	0	0	8564	1087	38	1	543	1	KRTAP10-10	21	46057875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86926	46057875	2072020	14586	38088											
SUMO3	6612	broad.mit.edu	37	chr21	46233927	46233927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttcatcagcttgctcagCggcgtgtgcctcttgatctt	4	14	10	13	2	5	1	3	1	2	0	5	1	5	1	2	1	4	2	2	1	0	4	rs11545092		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46233927C>T	ENST00000332859.6	-	2	274	c.114G>A	c.(112-114)ccG>ccA	p.P38P	SUMO3_ENST00000397898.3_Silent_p.P38P|SUMO3_ENST00000397893.3_Silent_p.P38P|SUMO3_ENST00000479153.1_5'UTR|SUMO3_ENST00000411651.2_Silent_p.P38P	NM_006936.2	NP_008867.2	P55854	SUMO3_HUMAN	small ubiquitin-like modifier 3	38	Ubiquitin-like.		P -> S (in dbSNP:rs1051311).		protein sumoylation	cytoplasm|kinetochore	protein binding			prostate(1)	1				Colorectal(79;0.058)		GCTTGCTCAGCGGCGTGTGCC	0.622													T	46233927	C	T	46233927	2	4	364	1	0	0	0	0	0	0	0	1	15485	755	27	1		1	SUMO3	21	46233927	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176052	46233927	1895968	14587	38089											
COL18A1	80781	broad.mit.edu	37	chr21	46875554	46875554	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggttcaataatgaggAcaccagccatgcagctacca	12	9	9	11	0	1	1	1	1	0	0	1	2	1	2	3	2	4	4	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46875554A>T	ENST00000359759.4	+	1	131	c.110A>T	c.(109-111)gAc>gTc	p.D37V	COL18A1_ENST00000400337.2_Intron|COL18A1_ENST00000355480.5_Missense_Mutation_p.D37V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	37					cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		AATAATGAGGACACCAGCCAT	0.627													T	46875554	A	T	46875554	3	4	364	1	0	0	0	0	1	0	0	0	3706	275	10	5	226	5	COL18A1	21	46875554	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	641627	46875554	1254341	14588	38090											
COL18A1	80781	broad.mit.edu	37	chr21	46900027	46900027	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcccccaggaccccaagGgcctccagggcccccaggac	8	1	13	19	0	0	0	0	0	0	0	1	2	1	2	8	5	0	0	8	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46900027G>T	ENST00000359759.4	+	10	2621	c.2600G>T	c.(2599-2601)gGg>gTg	p.G867V	COL18A1_ENST00000400337.2_Missense_Mutation_p.G452V|COL18A1_ENST00000355480.5_Missense_Mutation_p.G632V			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	867	Triple-helical region 2 (COL2).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		ggaccccaagggcctccaggg	0.647													T	46900027	G	T	46900027	3	4	364	1	0	0	0	0	1	0	0	0	3706	1232	43	4	2752	4	COL18A1	21	46900027	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24473	46900027	1229868	14589	38091											
COL18A1	80781	broad.mit.edu	37	chr21	46911189	46911189	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcctccctggccccccCggacccccgggacctgtggt	2	5	13	21	3	0	0	0	0	0	0	1	2	1	2	9	5	0	0	9	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46911189C>T	ENST00000359759.4	+	21	3384	c.3363C>T	c.(3361-3363)ccC>ccT	p.P1121P	COL18A1_ENST00000400337.2_Silent_p.P706P|COL18A1_ENST00000355480.5_Silent_p.P886P			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1121	Triple-helical region 4 (COL4).		P -> R.		cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CTGGCCCCCCCGGACCCCCGG	0.682													T	46911189	C	T	46911189	2	4	364	1	0	0	0	0	0	0	0	1	3706	639	23	1		1	COL18A1	21	46911189	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11162	46911189	1218706	14590	38092											
COL18A1	80781	broad.mit.edu	37	chr21	46932214	46932214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggccaggcctcctcgCtgctggggggcaggctcctg	3	6	16	16	2	0	0	0	0	0	0	3	0	2	0	5	6	1	4	5	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46932214C>T	ENST00000359759.4	+	41	5188	c.5167C>T	c.(5167-5169)Ctg>Ttg	p.L1723L	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Silent_p.L1308L|COL18A1_ENST00000355480.5_Silent_p.L1488L			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1723	Nonhelical region 11 (NC11).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGCCTCCTCGCTGCTGGGGGG	0.672													T	46932214	C	T	46932214	2	4	364	1	0	0	0	0	0	0	0	1	3706	796	28	2		2	COL18A1	21	46932214	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21025	46932214	1197681	14591	38093											
SLC19A1	6573	broad.mit.edu	37	chr21	46945844	46945844	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccagggcacagagctCtttagacagagaagatgcaa	16	5	12	8	0	1	5	0	0	1	5	1	7	1	5	1	1	2	3	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46945844C>A	ENST00000311124.4	-	5	1332	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	SLC19A1_ENST00000380010.4_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000567670.1_Nonsense_Mutation_p.E394*|SLC19A1_ENST00000485649.2_Nonsense_Mutation_p.E354*	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	394					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCACAGAGCTCTTTAGACAGA	0.567													A	46945844	C	A	46945844	4	1	364	1	0	0	0	0	0	1	0	0	14522	922	32	4	603	4	SLC19A1	21	46945844	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13630	46945844	1184051	14592	38094											
SLC19A1	6573	broad.mit.edu	37	chr21	46951793	46951793	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcagcgcgcgagtagccGgccacacgctggtagcgcgc	7	3	15	16	8	0	0	0	0	0	0	0	1	0	0	3	2	3	4	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:46951793G>A	ENST00000311124.4	-	3	611	c.459C>T	c.(457-459)gcC>gcT	p.A153A	SLC19A1_ENST00000380010.4_Silent_p.A153A|SLC19A1_ENST00000567670.1_Silent_p.A153A|SLC19A1_ENST00000485649.2_Silent_p.A113A	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	153					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGAGTAGCCGGCCACACGCT	0.652													A	46951793	G	A	46951793	2	1	364	1	0	0	0	0	0	0	0	1	14522	1103	39	1		1	SLC19A1	21	46951793	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5949	46951793	1178102	14593	38095											
PCBP3	54039	broad.mit.edu	37	chr21	47320530	47320530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactgtgaagaagatgcGtgaggaggtgagtgtggtgg	12	8	19	2	1	0	6	0	3	0	3	0	7	0	7	0	4	2	0	0	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47320530G>A	ENST00000400314.1	+	6	553	c.215G>A	c.(214-216)cGt>cAt	p.R72H	PCBP3_ENST00000400304.1_Missense_Mutation_p.R40H|PCBP3_ENST00000400310.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400309.1_Missense_Mutation_p.R72H|PCBP3_ENST00000400308.1_Missense_Mutation_p.R72H|PCBP3_ENST00000449640.1_Missense_Mutation_p.R72H			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	72	KH 1.				mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		AAGAAGATGCGTGAGGAGGTG	0.607													A	47320530	G	A	47320530	3	1	364	1	0	0	0	0	1	0	0	0	11578	1145	40	1	229	1	PCBP3	21	47320530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368737	47320530	809365	14594	38096											
COL6A1	1291	broad.mit.edu	37	chr21	47422182	47422182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcaccttcacgggggaggCcctgcagtacacgcgggacc	7	4	15	15	4	1	0	1	0	0	0	1	2	1	2	3	5	2	3	3	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47422182C>T	ENST00000361866.3	+	32	2231	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	706	C-terminal globular domain.|VWFA 2.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	ACGGGGGAGGCCCTGCAGTAC	0.682													T	47422182	C	T	47422182	3	4	364	1	0	0	0	0	1	0	0	0	3730	739	26	2	2243	2	COL6A1	21	47422182	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	101652	47422182	707713	14595	38097											
COL6A1	1291	broad.mit.edu	37	chr21	47423035	47423035	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttttctcttttacagaCaagaagtgtccagattacac	11	13	7	10	1	1	3	0	0	1	3	3	3	2	3	1	1	2	1	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47423035C>T	ENST00000361866.3	+	34	2550	c.2436C>T	c.(2434-2436)gaC>gaT	p.D812D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	812	C-terminal globular domain.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CTTTTACAGACAAGAAGTGTC	0.632													T	47423035	C	T	47423035	5	4	364	1	0	0	0	0	0	0	1	0	3730	492	17	2	2570	2	COL6A1	21	47423035	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	853	47423035	706860	14596	38098											
COL6A2	1292	broad.mit.edu	37	chr21	47532002	47532002	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacatgaagcagttcgtgccGcagttcatcagccagctgca	10	8	10	13	2	2	1	2	1	0	0	3	1	2	1	2	0	5	6	2	0	1	2	rs143678454		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47532002G>A	ENST00000300527.4	+	3	329	c.225G>A	c.(223-225)ccG>ccA	p.P75P	COL6A2_ENST00000409416.1_Silent_p.P75P|COL6A2_ENST00000310645.5_Silent_p.P75P|COL6A2_ENST00000397763.1_Silent_p.P75P|COL6A2_ENST00000357838.4_Silent_p.P75P	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	75	Nonhelical region.|VWFA 1.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		AGTTCGTGCCGCAGTTCATCA	0.607													A	47532002	G	A	47532002	2	1	364	1	0	0	0	0	0	0	0	1	3731	1074	38	1		1	COL6A2	21	47532002	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108967	47532002	597893	14597	38099											
COL6A2	1292	broad.mit.edu	37	chr21	47549205	47549205	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaccattcccctgatccaaCagttgctaaacgccacggag	11	7	9	14	2	0	1	0	1	0	0	2	3	2	3	5	2	3	2	5	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549205C>T	ENST00000357838.4	+	28	2639	c.2557C>T	c.(2557-2559)Cag>Tag	p.Q853*	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Nonsense_Mutation_p.Q853*	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.		R -> Q (in BM).		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CCTGATCCAACAGTTGCTAAA	0.692													T	47549205	C	T	47549205	4	4	364	1	0	0	0	0	0	1	0	0	3731	479	17	2	2693	2	COL6A2	21	47549205	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17203	47549205	580690	14598	38100											
COL6A2	1292	broad.mit.edu	37	chr21	47549280	47549280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccgtgctggtctacaccGccgagcgggccaagttcgcc	5	7	14	15	5	1	0	0	0	1	0	2	1	1	0	5	3	3	2	5	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47549280G>A	ENST00000357838.4	+	28	2714	c.2632G>A	c.(2632-2634)Gcc>Acc	p.A878T	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000300527.4_Intron|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.A878T	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		GGTCTACACCGCCGAGCGGGC	0.642													A	47549280	G	A	47549280	3	1	364	1	0	0	0	0	1	0	0	0	3731	1087	38	1	2768	1	COL6A2	21	47549280	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	47549280	580615	14599	38101											
FTCD	10841	broad.mit.edu	37	chr21	47570386	47570386	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggtggacacctgagccagGttcttctcatccaggtacca	8	11	10	12	0	2	1	1	1	2	0	4	2	3	2	4	4	2	2	4	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47570386G>A	ENST00000397748.1	-	6	733	c.690C>T	c.(688-690)aaC>aaT	p.N230N	FTCD_ENST00000397746.3_Silent_p.N230N|FTCD_ENST00000291670.5_Silent_p.N230N|FTCD_ENST00000397743.1_Silent_p.N230N|FTCD_ENST00000355384.2_Silent_p.N230N|FTCD_ENST00000359679.2_Silent_p.N230N|FTCD_ENST00000498355.2_5'UTR			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	230	Formiminotransferase C-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	CCTGAGCCAGGTTCTTCTCAT	0.577													A	47570386	G	A	47570386	2	1	364	1	0	0	0	0	0	0	0	1	6133	1252	44	2		2	FTCD	21	47570386	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21106	47570386	559509	14600	38102											
LSS	4047	broad.mit.edu	37	chr21	47626623	47626623	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagcagctccagcaagtgCcccccacgcttggtctcata	8	9	8	16	1	2	0	2	0	1	0	4	0	3	0	4	1	4	4	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47626623C>T	ENST00000397728.3	-	16	1605	c.1527G>A	c.(1525-1527)ggG>ggA	p.G509G	LSS_ENST00000356396.4_Silent_p.G509G|LSS_ENST00000522411.1_Silent_p.G498G|LSS_ENST00000457828.2_Silent_p.G429G	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	509					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					CCAGCAAGTGCCCCCCACGCT	0.597													T	47626623	C	T	47626623	2	4	364	1	0	0	0	0	0	0	0	1	9135	726	26	2		2	LSS	21	47626623	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56237	47626623	503272	14601	38103											
LSS	4047	broad.mit.edu	37	chr21	47635159	47635159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttcatacagcttctgcaCggcccgctgccgcaggtggg	5	9	14	13	3	2	0	1	0	1	0	2	0	2	0	2	3	4	5	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47635159C>T	ENST00000397728.3	-	9	1024	c.946G>A	c.(946-948)Gtg>Atg	p.V316M	LSS_ENST00000356396.4_Missense_Mutation_p.V316M|LSS_ENST00000522411.1_Missense_Mutation_p.V305M|LSS_ENST00000457828.2_Missense_Mutation_p.V236M	NM_001145436.1|NM_002340.5	NP_001138908.1|NP_002331.3	P48449	ERG7_HUMAN	lanosterol synthase (2,3-oxidosqualene-lanosterol cyclase)	316					cholesterol biosynthetic process	endoplasmic reticulum membrane	lanosterol synthase activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	21	Breast(49;0.214)					AGCTTCTGCACGGCCCGCTGC	0.637													T	47635159	C	T	47635159	3	4	364	1	0	0	0	0	1	0	0	0	9135	536	19	1	1308	1	LSS	21	47635159	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8536	47635159	494736	14602	38104											
MCM3AP	8888	broad.mit.edu	37	chr21	47663565	47663565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacctgggactggaggacagGctgtgtctggcgtgagctgg	6	8	18	9	1	1	1	0	1	1	0	1	4	1	4	1	6	1	2	1	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47663565G>A	ENST00000397708.1	-	25	5364	c.5110C>T	c.(5110-5112)Cct>Tct	p.P1704S	MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.P1704S|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000591223.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1704					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGAGGACAGGCTGTGTCTGG	0.612													A	47663565	G	A	47663565	3	1	364	1	0	0	0	0	1	0	0	0	9463	1203	42	2	852	2	MCM3AP	21	47663565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28406	47663565	466330	14603	38105											
MCM3AP	8888	broad.mit.edu	37	chr21	47692609	47692609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcacttggtcatgttCtcattattgatcttggcatc	7	16	9	9	0	3	1	2	1	2	0	5	1	3	1	0	3	1	4	0	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47692609C>A	ENST00000397708.1	-	9	2585	c.2331G>T	c.(2329-2331)gaG>gaT	p.E777D	MCM3AP_ENST00000291688.1_Missense_Mutation_p.E777D			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	777					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TGGTCATGTTCTCATTATTGA	0.527													A	47692609	C	A	47692609	3	1	364	1	0	0	0	0	1	0	0	0	9463	912	32	4	3695	4	MCM3AP	21	47692609	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29044	47692609	437286	14604	38106											
PCNT	5116	broad.mit.edu	37	chr21	47819616	47819616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagaagaaattaaacGtctggaggagatgaacatca	18	6	12	5	1	2	4	1	1	1	3	2	7	2	6	0	3	2	1	0	3	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47819616G>A	ENST00000359568.5	+	25	4804	c.4697G>A	c.(4696-4698)cGt>cAt	p.R1566H	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1566					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GAAATTAAACGTCTGGAGGAG	0.398													A	47819616	G	A	47819616	3	1	364	1	0	0	0	0	1	0	0	0	11666	1145	40	1	4795	1	PCNT	21	47819616	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	127007	47819616	310279	14605	38107											
PCNT	5116	broad.mit.edu	37	chr21	47836174	47836174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctggagtgatgattcCtgtgacggagaagagcctga	11	8	15	7	1	0	6	0	4	0	2	1	8	1	7	2	2	3	2	2	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47836174C>T	ENST00000359568.5	+	30	6449	c.6342C>T	c.(6340-6342)tcC>tcT	p.S2114S	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2114					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GTGATGATTCCTGTGACGGAG	0.507													T	47836174	C	T	47836174	2	4	364	1	0	0	0	0	0	0	0	1	11666	668	24	2		2	PCNT	21	47836174	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16558	47836174	293721	14606	38108											
PCNT	5116	broad.mit.edu	37	chr21	47851604	47851604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcggagccagctctctgaGctccagaaggaccttgcggc	8	6	14	13	2	1	2	0	1	1	1	3	5	2	4	3	3	5	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851604G>A	ENST00000359568.5	+	38	8333	c.8226G>A	c.(8224-8226)gaG>gaA	p.E2742E	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2742					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					AGCTCTCTGAGCTCCAGAAGG	0.642													A	47851604	G	A	47851604	2	1	364	1	0	0	0	0	0	0	0	1	11666	962	34	2		2	PCNT	21	47851604	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15430	47851604	278291	14607	38109											
PCNT	5116	broad.mit.edu	37	chr21	47851752	47851752	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccatcacgctctgctgCagaagctgaaggaggagaag	12	5	14	10	1	2	3	1	1	1	2	2	5	2	4	1	3	3	4	1	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47851752C>T	ENST00000359568.5	+	38	8481	c.8374C>T	c.(8374-8376)Cag>Tag	p.Q2792*	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2792			Q -> R (in dbSNP:rs2073376).		cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CGCTCTGCTGCAGAAGCTGAA	0.612													T	47851752	C	T	47851752	4	4	364	1	0	0	0	0	0	1	0	0	11666	711	25	2	8524	2	PCNT	21	47851752	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148	47851752	278143	14608	38110											
DIP2A	23181	broad.mit.edu	37	chr21	47969687	47969687	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtctcatcccgcaggatCgctgtgttctctgtgaccgt	5	13	10	13	3	2	1	1	1	2	0	6	2	3	2	2	1	0	3	2	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:47969687C>T	ENST00000318711.7	+	22	2712	c.2529C>T	c.(2527-2529)atC>atT	p.I843I	DIP2A_ENST00000400274.1_Silent_p.I838I|DIP2A_ENST00000417564.2_Silent_p.I842I|DIP2A_ENST00000457905.3_Silent_p.I842I|DIP2A_ENST00000427143.2_Silent_p.I778I	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	842					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		CCCGCAGGATCGCTGTGTTCT	0.587													T	47969687	C	T	47969687	2	4	364	1	0	0	0	0	0	0	0	1	4566	874	31	1		1	DIP2A	21	47969687	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117935	47969687	160208	14609	38111											
PRMT2	3275	broad.mit.edu	37	chr21	48063522	48063522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagtttgtggccatcGcggactacgctgccaccgat	8	8	13	12	4	0	1	0	0	0	1	1	4	0	3	3	3	2	2	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48063522G>A	ENST00000397637.1	+	3	1069	c.115G>A	c.(115-117)Gcg>Acg	p.A39T	PRMT2_ENST00000458387.2_Missense_Mutation_p.A39T|PRMT2_ENST00000440086.1_Missense_Mutation_p.A39T|PRMT2_ENST00000397628.1_Missense_Mutation_p.A39T|PRMT2_ENST00000334494.4_Missense_Mutation_p.A39T|PRMT2_ENST00000397638.2_Missense_Mutation_p.A39T|PRMT2_ENST00000451211.2_Missense_Mutation_p.A39T|PRMT2_ENST00000291705.6_Missense_Mutation_p.A39T|PRMT2_ENST00000355680.3_Missense_Mutation_p.A39T			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	39	SH3.				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TGTGGCCATCGCGGACTACGC	0.537													A	48063522	G	A	48063522	3	1	364	1	0	0	0	0	1	0	0	0	12623	1087	38	1	121	1	PRMT2	21	48063522	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	93835	48063522	66373	14610	38112											
PRMT2	3275	broad.mit.edu	37	chr21	48068466	48068466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgacggataaagtcatcCtggacgtgggctgtgggact	8	9	14	10	2	1	1	1	1	0	0	2	4	2	4	2	4	0	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr21:48068466C>A	ENST00000397637.1	+	5	1378	c.424C>A	c.(424-426)Ctg>Atg	p.L142M	PRMT2_ENST00000491389.1_3'UTR|PRMT2_ENST00000458387.2_Missense_Mutation_p.L142M|PRMT2_ENST00000440086.1_Missense_Mutation_p.L142M|PRMT2_ENST00000397628.1_Missense_Mutation_p.L142M|PRMT2_ENST00000334494.4_Missense_Mutation_p.L142M|PRMT2_ENST00000397638.2_Missense_Mutation_p.L142M|PRMT2_ENST00000451211.2_Missense_Mutation_p.L142M|PRMT2_ENST00000291705.6_Missense_Mutation_p.L142M|PRMT2_ENST00000355680.3_Missense_Mutation_p.L142M			P55345	ANM2_HUMAN	protein arginine methyltransferase 2	142	Interaction with ESR1.|Interaction with RB1 (By similarity).				developmental cell growth|induction of apoptosis|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of androgen receptor signaling pathway	cytosol|nucleus	androgen receptor binding|estrogen receptor binding|histone-arginine N-methyltransferase activity|peroxisome proliferator activated receptor binding|progesterone receptor binding|protein homodimerization activity|retinoic acid receptor binding|signal transducer activity|thyroid hormone receptor binding|transcription coactivator activity			NS(1)|breast(3)|endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	Breast(49;0.247)	Lung NSC(3;0.245)		Epithelial(3;1.03e-07)|OV - Ovarian serous cystadenocarcinoma(3;4.68e-07)|all cancers(3;7.48e-07)|Colorectal(79;0.167)|Lung(125;0.203)|LUSC - Lung squamous cell carcinoma(216;0.23)|READ - Rectum adenocarcinoma(84;0.248)		TAAAGTCATCCTGGACGTGGG	0.537													A	48068466	C	A	48068466	3	1	364	1	0	0	0	0	1	0	0	0	12623	680	24	4	438	4	PRMT2	21	48068466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4944	48068466	61429	14611	38113											
POTEH	23784	broad.mit.edu	37	chr22	16267028	16267028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcaccattgtcagcagtgGcaccgttagtcaggttttct	8	13	9	11	1	4	0	3	0	1	0	4	0	4	0	2	2	1	4	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267028G>A	ENST00000343518.6	-	9	1472	c.1421C>T	c.(1420-1422)gCc>gTc	p.A474V		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	474										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						GTCAGCAGTGGCACCGTTAGT	0.408													A	16267028	G	A	16267028	3	1	364	1	0	0	0	0	1	0	0	0	12344	1203	42	2	224	2	POTEH	22	16267028	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		16267028	35037538	14612	38114											
POTEH	23784	broad.mit.edu	37	chr22	16267041	16267041	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggcaccgttagtcaGgttttctgggaatcccatat	9	12	11	9	1	2	0	1	0	1	0	3	1	3	1	2	3	1	4	2	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:16267041G>T	ENST00000343518.6	-	9	1459	c.1408C>A	c.(1408-1410)Ctg>Atg	p.L470M		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	470										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						CCGTTAGTCAGGTTTTCTGGG	0.403													T	16267041	G	T	16267041	3	4	364	1	0	0	0	0	1	0	0	0	12344	991	35	4	237	4	POTEH	22	16267041	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13	16267041	35037525	14613	38115											
CCT8L2	150160	broad.mit.edu	37	chr22	17072024	17072024	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccattaggaggttcccacCttggtgcactccactcattt	8	12	7	14	0	1	0	1	0	0	0	3	1	3	1	4	3	1	2	4	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17072024C>A	ENST00000359963.3	-	1	1676	c.1417G>T	c.(1417-1419)Ggt>Tgt	p.G473C		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	473					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				AGGTTCCCACCTTGGTGCACT	0.507													A	17072024	C	A	17072024	3	1	364	1	0	0	0	0	1	0	0	0	2991	681	24	4	260	4	CCT8L2	22	17072024	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	804983	17072024	34232542	14614	38116											
CCT8L2	150160	broad.mit.edu	37	chr22	17073125	17073125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcagcagaaccacgaaggCtgtgccgtccccactattct	9	8	9	15	3	2	1	1	0	1	1	3	2	3	1	4	1	3	2	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17073125C>A	ENST00000359963.3	-	1	575	c.316G>T	c.(316-318)Gcc>Tcc	p.A106S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	106					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				ACCACGAAGGCTGTGCCGTCC	0.662													A	17073125	C	A	17073125	3	1	364	1	0	0	0	0	1	0	0	0	2991	797	28	4	1361	4	CCT8L2	22	17073125	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1101	17073125	34231441	14615	38117											
XKR3	150165	broad.mit.edu	37	chr22	17280789	17280789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcatgaaattatccCggattgagaatgcaatctcc	11	12	8	10	1	2	2	0	2	2	1	4	4	3	3	2	1	3	3	2	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17280789C>A	ENST00000331428.5	-	3	563	c.461G>T	c.(460-462)cGg>cTg	p.R154L		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	154						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GAAATTATCCCGGATTGAGAA	0.398													A	17280789	C	A	17280789	3	1	364	1	0	0	0	0	1	0	0	0	17534	652	23	4	926	4	XKR3	22	17280789	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	207664	17280789	34023777	14616	38118											
GAB4	128954	broad.mit.edu	37	chr22	17447227	17447227	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcagaagcaatgctgtCtgacaggcccacaagcgttc	10	7	10	14	1	2	2	1	1	1	1	3	2	2	2	2	1	3	3	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17447227C>A	ENST00000400588.1	-	6	1158	c.1051G>T	c.(1051-1053)Gac>Tac	p.D351Y		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	351										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GCAATGCTGTCTGACAGGCCC	0.527													A	17447227	C	A	17447227	3	1	364	1	0	0	0	0	1	0	0	0	6203	913	32	4	693	4	GAB4	22	17447227	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166438	17447227	33857339	14617	38119											
GAB4	128954	broad.mit.edu	37	chr22	17488898	17488898	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagcacgtggccacttCtcgtgcttccgccggcgggg	4	9	14	14	5	1	0	0	0	1	0	3	0	2	0	3	4	3	3	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17488898C>A	ENST00000400588.1	-	1	214	c.107G>T	c.(106-108)aGa>aTa	p.R36I		NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	36										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				GTGGCCACTTCTCGTGCTTCC	0.682													A	17488898	C	A	17488898	3	1	364	1	0	0	0	0	1	0	0	0	6203	913	32	4	1657	4	GAB4	22	17488898	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41671	17488898	33815668	14618	38120											
IL17RA	23765	broad.mit.edu	37	chr22	17589306	17589306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgtggtcctgaaattcgcCcagttcctgctcaccgcctg	6	10	10	15	3	1	1	1	1	0	0	4	2	3	1	5	1	1	2	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17589306C>T	ENST00000319363.6	+	13	1330	c.1197C>T	c.(1195-1197)gcC>gcT	p.A399A		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	399	SEFIR.				fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		TGAAATTCGCCCAGTTCCTGC	0.642													T	17589306	C	T	17589306	2	4	364	1	0	0	0	0	0	0	0	1	7697	610	22	2		2	IL17RA	22	17589306	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	100408	17589306	33715260	14619	38121											
CECR6	27439	broad.mit.edu	37	chr22	17601078	17601078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagccaggccaggtaggCgaaggcgaactcgcccgctg	10	4	15	12	4	0	0	0	0	0	0	1	3	0	0	3	4	2	2	3	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17601078C>T	ENST00000331437.3	-	1	1065	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CECR6_ENST00000399875.1_Intron	NM_031890.3	NP_114096.1	Q9BXQ6	CECR6_HUMAN	cat eye syndrome chromosome region, candidate 6	314	Ala-rich.									haematopoietic_and_lymphoid_tissue(1)	1		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.221)		GCCAGGTAGGCGAAGGCGAAC	0.731													T	17601078	C	T	17601078	3	4	364	1	0	0	0	0	1	0	0	0	3238	768	27	1	800	1	CECR6	22	17601078	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11772	17601078	33703488	14620	38122											
CECR1	51816	broad.mit.edu	37	chr22	17670843	17670843	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggttaccaggtcaaaccCtgccaccaccgtggggaact	10	7	11	13	1	1	0	1	0	0	0	1	1	1	1	5	4	4	1	5	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17670843C>A	ENST00000399839.1	-	6	1231	c.961G>T	c.(961-963)Ggg>Tgg	p.G321W	CECR1_ENST00000399837.2_Missense_Mutation_p.G321W|CECR1_ENST00000262607.3_Missense_Mutation_p.G321W|CECR1_ENST00000449907.2_Missense_Mutation_p.G279W|CECR1_ENST00000330232.4_Missense_Mutation_p.G80W|CECR1_ENST00000480276.1_5'UTR	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	321					adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				AGGTCAAACCCTGCCACCACC	0.577													A	17670843	C	A	17670843	3	1	364	1	0	0	0	0	1	0	0	0	3235	681	24	4	594	4	CECR1	22	17670843	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	69765	17670843	33633723	14621	38123											
CECR1	51816	broad.mit.edu	37	chr22	17690298	17690298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacttctctcaatgagatgCttggcctggaaaaagtgcat	11	12	10	8	0	2	2	1	2	1	1	3	4	2	3	1	2	2	2	1	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:17690298C>T	ENST00000399839.1	-	2	540	c.270G>A	c.(268-270)aaG>aaA	p.K90K	CECR1_ENST00000399837.2_Silent_p.K90K|CECR1_ENST00000262607.3_Silent_p.K90K|CECR1_ENST00000449907.2_Silent_p.K48K	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	90	Dimerization.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				CAATGAGATGCTTGGCCTGGA	0.498													T	17690298	C	T	17690298	2	4	364	1	0	0	0	0	0	0	0	1	3235	796	28	2		2	CECR1	22	17690298	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19455	17690298	33614268	14622	38124											
CECR2	27443	broad.mit.edu	37	chr22	18028274	18028274	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcacgggacagaacgcagcGacaccgcccagcacagaccc	12	1	11	17	4	0	2	0	0	0	2	0	4	0	3	3	1	4	3	3	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18028274G>A	ENST00000400573.5	+	17	3238	c.3231G>A	c.(3229-3231)gcG>gcA	p.A1077A	CECR2_ENST00000400585.2_Silent_p.A935A|CECR2_ENST00000262608.8_Silent_p.A1078A			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AGAACGCAGCGACACCGCCCA	0.607													A	18028274	G	A	18028274	2	1	364	1	0	0	0	0	0	0	0	1	3236	1045	37	1		1	CECR2	22	18028274	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	337976	18028274	33276292	14623	38125											
SLC25A18	83733	broad.mit.edu	37	chr22	18066240	18066240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtggggctgggatgtgccagGtcgtggtgacctgtcccatg	4	10	18	9	1	0	1	0	1	0	0	2	2	1	2	3	5	1	1	3	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18066240G>A	ENST00000327451.6	+	7	887	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	AC004019.13_ENST00000443935.1_RNA|SLC25A18_ENST00000497401.1_3'UTR|SLC25A18_ENST00000399813.1_Missense_Mutation_p.V117I	NM_031481.1	NP_113669.1	Q9H1K4	GHC2_HUMAN	solute carrier family 25 (glutamate carrier), member 18							integral to membrane|mitochondrial inner membrane	binding|symporter activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	18				Lung(27;0.124)	L-Glutamic Acid(DB00142)	GATGTGCCAGGTCGTGGTGAC	0.607													A	18066240	G	A	18066240	3	1	364	1	0	0	0	0	1	0	0	0	14574	1261	44	2	367	2	SLC25A18	22	18066240	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37966	18066240	33238326	14624	38126											
MICAL3	57553	broad.mit.edu	37	chr22	18300809	18300809	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgaagaatttctcctGcaggcttgagtcctcagtct	7	12	12	10	1	3	3	1	2	2	1	5	3	4	3	2	2	1	2	2	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18300809G>A	ENST00000441493.2	-	26	4970	c.4618C>T	c.(4618-4620)Cag>Tag	p.Q1540*		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1540						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AATTTCTCCTGCAGGCTTGAG	0.622													A	18300809	G	A	18300809	4	1	364	1	0	0	0	0	0	1	0	0	9646	1328	46	2	1418	2	MICAL3	22	18300809	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234569	18300809	33003757	14625	38127											
MICAL3	57553	broad.mit.edu	37	chr22	18324748	18324748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccctcagtcgcttggCgatgctgggctcctccaggc	3	9	14	15	2	1	0	1	0	0	0	4	1	3	0	4	4	2	3	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18324748C>T	ENST00000441493.2	-	20	2993	c.2641G>A	c.(2641-2643)Gcc>Acc	p.A881T	MICAL3_ENST00000414725.2_Missense_Mutation_p.A909T|MICAL3_ENST00000207726.7_Missense_Mutation_p.A909T|MICAL3_ENST00000444520.1_Missense_Mutation_p.A881T|MICAL3_ENST00000383094.3_Missense_Mutation_p.A881T|MICAL3_ENST00000400561.2_Missense_Mutation_p.A881T	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	881						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGTCGCTTGGCGATGCTGGGC	0.662													T	18324748	C	T	18324748	3	4	364	1	0	0	0	0	1	0	0	0	9646	768	27	1	3523	1	MICAL3	22	18324748	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23939	18324748	32979818	14626	38128											
MICAL3	57553	broad.mit.edu	37	chr22	18347660	18347660	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccaaacaaggaagtgagGctacctggggttctctcagt	11	8	12	10	0	2	1	1	1	1	0	3	2	2	2	2	4	3	2	2	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18347660G>A	ENST00000429452.1	-	23	3334	c.2982C>T	c.(2980-2982)agC>agT	p.S994S	MICAL3_ENST00000585038.1_Silent_p.S994S|MICAL3_ENST00000414725.2_Intron|MICAL3_ENST00000207726.7_Intron|MICAL3_ENST00000441493.2_Intron|MICAL3_ENST00000444520.1_Intron|MICAL3_ENST00000383094.3_Intron|MICAL3_ENST00000400561.2_Intron	NM_001136004.1	NP_001129476.1	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	870	Glu-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGGAAGTGAGGCTACCTGGGG	0.602													A	18347660	G	A	18347660	2	1	364	1	0	0	0	0	0	0	0	1	9646	1194	42	2		2	MICAL3	22	18347660	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22912	18347660	32956906	14627	38129											
MICAL3	57553	broad.mit.edu	37	chr22	18368817	18368817	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggccccgaggagcttcctCctggtcaatgccaaccccaa	8	7	10	16	1	1	0	1	0	0	0	3	2	3	1	7	3	3	1	7	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18368817C>A	ENST00000441493.2	-	16	2420	c.2068G>T	c.(2068-2070)Gag>Tag	p.E690*	MICAL3_ENST00000585038.1_Splice_Site_p.E690*|MICAL3_ENST00000414725.2_Splice_Site_p.E690*|MICAL3_ENST00000429452.1_Splice_Site_p.E690*|MICAL3_ENST00000207726.7_Splice_Site_p.E690*|MICAL3_ENST00000444520.1_Splice_Site_p.E690*|MICAL3_ENST00000383094.3_Splice_Site_p.E690*|MICAL3_ENST00000400561.2_Splice_Site_p.E690*	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	690	Poly-Glu.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GGAGCTTCCTCCTGGTCAATG	0.612													A	18368817	C	A	18368817	5	1	364	1	0	0	0	0	0	0	1	0	9646	869	30	4	4745	4	MICAL3	22	18368817	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21157	18368817	32935749	14628	38130											
MICAL3	57553	broad.mit.edu	37	chr22	18385396	18385396	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcctccagtataacttaCgttcattctcttggtcctca	8	15	4	14	1	3	0	2	0	1	0	7	0	6	0	3	1	2	2	3	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18385396C>T	ENST00000441493.2	-	4	942		c.e4+1		MICAL3_ENST00000585038.1_Splice_Site|MICAL3_ENST00000414725.2_Splice_Site|MICAL3_ENST00000429452.1_Splice_Site|MICAL3_ENST00000207726.7_Splice_Site|MICAL3_ENST00000444520.1_Splice_Site|MICAL3_ENST00000383094.3_Splice_Site|MICAL3_ENST00000400561.2_Splice_Site	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3							cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		GTATAACTTACGTTCATTCTC	0.468													T	18385396	C	T	18385396	5	4	364	1	0	0	0	0	0	0	1	0	9646	550	19	1	6271	1	MICAL3	22	18385396	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16579	18385396	32919170	14629	38131											
PRODH	5625	broad.mit.edu	37	chr22	18918708	18918708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtttcctggaaacatacaGcagctgaaaggcaaagggaa	17	6	11	7	0	0	1	0	1	0	0	1	3	1	3	1	3	4	4	1	3	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:18918708G>A	ENST00000357068.6	-	2	542	c.277C>T	c.(277-279)Ctg>Ttg	p.L93L	PRODH_ENST00000334029.2_5'UTR|PRODH_ENST00000420436.1_Intron	NM_016335.4	NP_057419	O43272	PROD_HUMAN	proline dehydrogenase (oxidase) 1	93					glutamate biosynthetic process|induction of apoptosis by oxidative stress|proline catabolic process	mitochondrial inner membrane|mitochondrial matrix	proline dehydrogenase activity			breast(1)|endometrium(3)|lung(4)|upper_aerodigestive_tract(1)	9					L-Proline(DB00172)	GAAACATACAGCAGCTGAAAG	0.547													A	18918708	G	A	18918708	2	1	364	1	0	0	0	0	0	0	0	1	12634	962	34	2		2	PRODH	22	18918708	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	533312	18918708	32385858	14630	38132											
DGCR2	9993	broad.mit.edu	37	chr22	19048416	19048416	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatgtgtgtgcagggtaccGacacatgggcatagtaagcg	12	8	14	7	2	0	0	0	0	0	0	0	1	0	0	1	2	3	4	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19048416G>A	ENST00000545799.1	-	6	869	c.669C>T	c.(667-669)gtC>gtT	p.V223V	DGCR2_ENST00000537045.1_Intron|DGCR2_ENST00000263196.7_Intron|DGCR2_ENST00000473832.1_Intron			P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	0	C-type lectin.				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					GCAGGGTACCGACACATGGGC	0.522													A	19048416	G	A	19048416	2	1	364	1	0	0	0	0	0	0	0	1	4500	1073	37	1		1	DGCR2	22	19048416	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	129708	19048416	32256150	14631	38133											
TSSK2	23617	broad.mit.edu	37	chr22	19118978	19118978	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaatcttggcaagggttcCtacgcaaaagtcaaatctgc	13	10	8	10	1	4	0	2	0	2	0	5	0	5	0	1	2	2	3	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19118978C>A	ENST00000399635.2	+	1	658	c.66C>A	c.(64-66)tcC>tcA	p.S22S	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	22	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					GCAAGGGTTCCTACGCAAAAG	0.517													A	19118978	C	A	19118978	2	1	364	1	0	0	0	0	0	0	0	1	16770	668	24	4		4	TSSK2	22	19118978	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70562	19118978	32185588	14632	38134											
TSSK2	23617	broad.mit.edu	37	chr22	19119140	19119140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctccatcatcaagacttaCgagatctttgagacctctga	11	11	8	11	1	4	4	2	2	2	3	5	6	5	4	2	1	1	1	2	1	2	2	rs150544486		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119140C>T	ENST00000399635.2	+	1	820	c.228C>T	c.(226-228)taC>taT	p.Y76Y	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	76	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					TCAAGACTTACGAGATCTTTG	0.537													T	19119140	C	T	19119140	2	4	364	1	0	0	0	0	0	0	0	1	16770	547	19	1		1	TSSK2	22	19119140	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162	19119140	32185426	14633	38135											
TSSK2	23617	broad.mit.edu	37	chr22	19119390	19119390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgactttggcttctccaagCgctgcctgcgggacagcaat	7	10	11	13	2	1	1	0	1	1	0	2	2	1	2	2	2	4	3	2	2	2	2	rs144966098	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19119390C>T	ENST00000399635.2	+	1	1070	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	160	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					CTTCTCCAAGCGCTGCCTGCG	0.597													T	19119390	C	T	19119390	3	4	364	1	0	0	0	0	1	0	0	0	16770	768	27	1	480	1	TSSK2	22	19119390	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250	19119390	32185176	14634	38136											
DGCR14	8220	broad.mit.edu	37	chr22	19122584	19122584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcccctcacctggccagattCtccgtcactctccgcaaggc	6	8	8	19	2	4	1	2	0	2	1	6	1	4	1	6	2	0	1	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19122584C>T	ENST00000252137.6	-	9	1183	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	380					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					TGGCCAGATTCTCCGTCACTC	0.682													T	19122584	C	T	19122584	2	4	364	1	0	0	0	0	0	0	0	1	4499	912	32	2		2	DGCR14	22	19122584	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3194	19122584	32181982	14635	38137											
GSC2	2928	broad.mit.edu	37	chr22	19137263	19137263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttctgcacgaaaagcgcCtcgagcgcctgcagctgctc	7	8	12	14	4	1	0	0	0	1	0	3	2	1	0	2	1	6	5	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19137263C>A	ENST00000086933.2	-	2	425	c.426G>T	c.(424-426)gaG>gaT	p.E142D		NM_005315.1	NP_005306.1	O15499	GSC2_HUMAN	goosecoid homeobox 2	142					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(2)	4	Colorectal(54;0.0993)					CGAAAAGCGCCTCGAGCGCCT	0.721													A	19137263	C	A	19137263	3	1	364	1	0	0	0	0	1	0	0	0	6870	680	24	4	198	4	GSC2	22	19137263	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14679	19137263	32167303	14636	38138											
CLTCL1	8218	broad.mit.edu	37	chr22	19207451	19207451	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggacgtgagcccagagCtccggatcctttctgcatac	9	9	10	13	2	2	2	1	1	1	1	4	4	4	4	3	2	4	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19207451C>T	ENST00000263200.10	-	18	2934	c.2862G>A	c.(2860-2862)gaG>gaA	p.E954E	CLTCL1_ENST00000427926.1_Silent_p.E954E|CLTCL1_ENST00000353891.5_Silent_p.E954E	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	954	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GAGCCCAGAGCTCCGGATCCT	0.527			T	?	ALCL								T	19207451	C	T	19207451	2	4	364	1	0	0	0	0	0	0	0	1	3598	796	28	2		2	CLTCL1	22	19207451	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70188	19207451	32097115	14637	38139											
CLTCL1	8218	broad.mit.edu	37	chr22	19213861	19213861	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctgggcaatgtgggcccGgtcgtaatgagtaaacattt	10	10	14	7	2	0	1	0	1	0	0	1	2	0	1	1	3	2	4	1	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19213861G>T	ENST00000263200.10	-	12	1900	c.1828C>A	c.(1828-1830)Cgg>Agg	p.R610R	CLTCL1_ENST00000427926.1_Silent_p.R610R|CLTCL1_ENST00000353891.5_Silent_p.R610R	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	610	Distal segment.|Heavy chain arm.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					ATGTGGGCCCGGTCGTAATGA	0.502			T	?	ALCL								T	19213861	G	T	19213861	2	4	364	1	0	0	0	0	0	0	0	1	3598	1115	39	4		4	CLTCL1	22	19213861	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6410	19213861	32090705	14638	38140											
HIRA	7290	broad.mit.edu	37	chr22	19319035	19319035	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaatcggaggttctgcccGatgactggtagcagctcctt	7	11	13	10	2	1	1	0	1	1	0	3	4	2	3	2	4	3	4	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19319035G>A	ENST00000263208.5	-	25	3238	c.2982C>T	c.(2980-2982)atC>atT	p.I994I	HIRA_ENST00000541063.1_Silent_p.I950I|HIRA_ENST00000340170.4_Silent_p.I787I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	994	Interaction with histone H4.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					GGTTCTGCCCGATGACTGGTA	0.587													A	19319035	G	A	19319035	2	1	364	1	0	0	0	0	0	0	0	1	7175	1048	37	1		1	HIRA	22	19319035	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105174	19319035	31985531	14639	38141											
HIRA	7290	broad.mit.edu	37	chr22	19365463	19365463	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgtgcaaggcttcgaGgcgccgaaggagttaggggt	7	8	18	8	3	1	0	0	0	1	0	2	3	1	1	1	6	1	4	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19365463G>T	ENST00000263208.5	-	14	1798	c.1542C>A	c.(1540-1542)gcC>gcA	p.A514A	HIRA_ENST00000541063.1_Silent_p.A470A|HIRA_ENST00000340170.4_Silent_p.A514A|HIRA_ENST00000546308.1_Silent_p.A470A	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	514	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					AAGGCTTCGAGGCGCCGAAGG	0.597													T	19365463	G	T	19365463	2	4	364	1	0	0	0	0	0	0	0	1	7175	987	35	4		4	HIRA	22	19365463	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46428	19365463	31939103	14640	38142											
HIRA	7290	broad.mit.edu	37	chr22	19381928	19381928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcttccatccctcccgttcGatgatctgggcagtggggcc	4	11	12	14	2	2	1	0	1	2	0	6	2	5	1	4	3	0	2	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19381928G>A	ENST00000263208.5	-	8	1015	c.759C>T	c.(757-759)atC>atT	p.I253I	HIRA_ENST00000541063.1_Silent_p.I209I|HIRA_ENST00000340170.4_Silent_p.I253I|HIRA_ENST00000546308.1_Silent_p.I209I	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	253					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCTCCCGTTCGATGATCTGGG	0.572													A	19381928	G	A	19381928	2	1	364	1	0	0	0	0	0	0	0	1	7175	1048	37	1		1	HIRA	22	19381928	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16465	19381928	31922638	14641	38143											
HIRA	7290	broad.mit.edu	37	chr22	19384429	19384429	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagggtcccatgtcaaccCtttgaccaagccagaatgac	13	7	8	13	0	1	3	1	2	0	1	2	3	2	3	4	1	3	0	4	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19384429C>A	ENST00000263208.5	-	7	791	c.535G>T	c.(535-537)Ggg>Tgg	p.G179W	HIRA_ENST00000541063.1_Missense_Mutation_p.G135W|HIRA_ENST00000340170.4_Missense_Mutation_p.G179W|HIRA_ENST00000546308.1_Missense_Mutation_p.G135W	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	179					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CATGTCAACCCTTTGACCAAG	0.488													A	19384429	C	A	19384429	3	1	364	1	0	0	0	0	1	0	0	0	7175	681	24	4	2594	4	HIRA	22	19384429	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2501	19384429	31920137	14642	38144											
HIRA	7290	broad.mit.edu	37	chr22	19385612	19385612	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctacatccatcacatcTgaaagaagacagagggttct	14	9	8	10	0	3	4	1	1	2	3	4	4	4	4	1	1	2	2	1	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19385612T>C	ENST00000263208.5	-	6	654		c.e6-2		HIRA_ENST00000541063.1_Splice_Site|HIRA_ENST00000464189.1_Splice_Site|HIRA_ENST00000340170.4_Splice_Site|HIRA_ENST00000546308.1_Splice_Site	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator						chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCATCACATCTGAAAGAAGAC	0.527													C	19385612	T	C	19385612	5	2	364	1	0	0	0	0	0	0	1	0	7175	1594	55	3	2737	3	HIRA	22	19385612	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1183	19385612	31918954	14643	38145											
MRPL40	64976	broad.mit.edu	37	chr22	19423208	19423208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggagactgagaggagagCtctgcttctgaagaagtggt	11	9	16	5	0	2	6	0	3	2	4	2	9	2	6	0	3	2	2	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19423208C>T	ENST00000333130.3	+	4	997	c.344C>T	c.(343-345)gCt>gTt	p.A115V	HIRA_ENST00000541063.1_Intron|MRPL40_ENST00000443660.1_3'UTR|HIRA_ENST00000546308.1_Intron	NM_003776.2	NP_003767.2	Q9NQ50	RM40_HUMAN	mitochondrial ribosomal protein L40	115					anatomical structure morphogenesis	mitochondrial ribosome|nucleus				endometrium(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					GAGAGGAGAGCTCTGCTTCTG	0.532													T	19423208	C	T	19423208	3	4	364	1	0	0	0	0	1	0	0	0	9880	797	28	2	358	2	MRPL40	22	19423208	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37596	19423208	31881358	14644	38146											
C22orf39	128977	broad.mit.edu	37	chr22	19431881	19431881	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtgcttccgtgcagcccgGactcgtgcccgctcgctctc	3	10	11	17	5	1	0	0	0	1	0	5	1	2	1	3	1	4	4	3	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19431881G>A	ENST00000399562.4	-	3	768	c.336C>T	c.(334-336)gtC>gtT	p.V112V	HIRA_ENST00000541063.1_Intron|C22orf39_ENST00000333059.5_Silent_p.V75V|C22orf39_ENST00000542103.1_Intron|HIRA_ENST00000546308.1_Intron|C22orf39_ENST00000399568.1_Intron	NM_173793.4	NP_776154.3	Q6P5X5	CV039_HUMAN	chromosome 22 open reading frame 39													Colorectal(54;0.0993)					GTGCAGCCCGGACTCGTGCCC	0.627													A	19431881	G	A	19431881	2	1	364	1	0	0	0	0	0	0	0	1	2168	1161	41	2		2	C22orf39	22	19431881	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8673	19431881	31872685	14645	38147											
CDC45	8318	broad.mit.edu	37	chr22	19470274	19470274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattggatattcttcaacCtgatgaagacactatattct	12	15	5	9	0	3	3	1	2	2	1	3	4	3	4	2	1	1	0	2	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19470274C>A	ENST00000407835.1	+	5	522	c.266C>A	c.(265-267)cCt>cAt	p.P89H	CDC45_ENST00000437685.2_Missense_Mutation_p.P89H|CDC45_ENST00000404724.3_Intron|CDC45_ENST00000483431.1_3'UTR|CDC45_ENST00000263201.1_Missense_Mutation_p.P89H			O75419	CDC45_HUMAN	cell division cycle 45	89					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATTCTTCAACCTGATGAAGAC	0.363													A	19470274	C	A	19470274	3	1	364	1	0	0	0	0	1	0	0	0	3111	681	24	4	280	4	CDC45	22	19470274	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38393	19470274	31834292	14646	38148											
CDC45	8318	broad.mit.edu	37	chr22	19483525	19483525	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagacatcctctttgactaCgagcagtatgaatatcatgg	13	11	9	8	1	2	3	1	2	1	1	3	5	3	3	1	1	2	2	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19483525C>T	ENST00000407835.1	+	8	820	c.564C>T	c.(562-564)taC>taT	p.Y188Y	CDC45_ENST00000437685.2_Silent_p.Y220Y|CDC45_ENST00000404724.3_Silent_p.Y142Y|CDC45_ENST00000263201.1_Silent_p.Y188Y			O75419	CDC45_HUMAN	cell division cycle 45	188					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding	p.Y188Y(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						TCTTTGACTACGAGCAGTATG	0.393													T	19483525	C	T	19483525	2	4	364	1	0	0	0	0	0	0	0	1	3111	547	19	1		1	CDC45	22	19483525	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13251	19483525	31821041	14647	38149											
CDC45	8318	broad.mit.edu	37	chr22	19484966	19484966	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaggacctgaatgacatgCtgtggtacgtagcccctgcg	9	8	12	12	2	0	2	0	2	0	0	0	3	0	3	4	2	4	3	4	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19484966C>A	ENST00000407835.1	+	9	905	c.649C>A	c.(649-651)Ctg>Atg	p.L217M	CDC45_ENST00000437685.2_Missense_Mutation_p.L249M|CDC45_ENST00000404724.3_Missense_Mutation_p.L171M|CDC45_ENST00000263201.1_Missense_Mutation_p.L217M			O75419	CDC45_HUMAN	cell division cycle 45	217					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						GAATGACATGCTGTGGTACGT	0.547													A	19484966	C	A	19484966	3	1	364	1	0	0	0	0	1	0	0	0	3111	796	28	4	779	4	CDC45	22	19484966	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1441	19484966	31819600	14648	38150											
CDC45	8318	broad.mit.edu	37	chr22	19496191	19496191	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagggacagatcacttcatCcaggctctggacagcctctc	9	9	9	14	0	5	1	3	0	2	1	7	3	6	3	2	3	1	1	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19496191C>A	ENST00000407835.1	+	14	1450	c.1194C>A	c.(1192-1194)atC>atA	p.I398I	CDC45_ENST00000437685.2_Silent_p.I430I|CDC45_ENST00000404724.3_Silent_p.I352I|CDC45_ENST00000263201.1_Silent_p.I398I			O75419	CDC45_HUMAN	cell division cycle 45	398					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						ATCACTTCATCCAGGCTCTGG	0.582													A	19496191	C	A	19496191	2	1	364	1	0	0	0	0	0	0	0	1	3111	845	30	4		4	CDC45	22	19496191	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11225	19496191	31808375	14649	38151											
CDC45	8318	broad.mit.edu	37	chr22	19502298	19502298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctggacaagctgtaccatgGcctggaactcgccaagaagc	11	6	11	13	1	0	1	0	0	0	1	1	3	0	3	4	3	4	2	4	3	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19502298G>A	ENST00000407835.1	+	15	1500	c.1244G>A	c.(1243-1245)gGc>gAc	p.G415D	CDC45_ENST00000437685.2_Missense_Mutation_p.G447D|CDC45_ENST00000404724.3_Missense_Mutation_p.G369D|CDC45_ENST00000263201.1_Missense_Mutation_p.G415D			O75419	CDC45_HUMAN	cell division cycle 45	415					DNA replication checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	centrosome|nucleoplasm	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	19						CTGTACCATGGCCTGGAACTC	0.537													A	19502298	G	A	19502298	3	1	364	1	0	0	0	0	1	0	0	0	3111	1203	42	2	1398	2	CDC45	22	19502298	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6107	19502298	31802268	14650	38152											
SEPT5	5413	broad.mit.edu	37	chr22	19709443	19709443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacgtgcgacgtgcactacGagaactaccgcgcgcactgc	9	6	12	14	7	0	2	0	1	0	1	0	4	0	2	1	0	6	2	1	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19709443G>A	ENST00000438754.2	+	9	1209	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	SEPT5_ENST00000455784.2_Missense_Mutation_p.E305K|SEPT5_ENST00000383045.3_Missense_Mutation_p.E314K|SEPT5_ENST00000406395.1_Missense_Mutation_p.R301Q	NM_001009939.2	NP_001009939.1	Q99719	SEPT5_HUMAN	septin 5	0					cell cycle|cytokinesis|regulation of exocytosis|synaptic vesicle targeting	plasma membrane|septin complex|synaptic vesicle	GTP binding|GTPase activity|protein binding|structural molecule activity			lung(1)|upper_aerodigestive_tract(1)	2	Colorectal(54;0.0993)					CGTGCACTACGAGAACTACCG	0.632													A	19709443	G	A	19709443	3	1	364	1	0	0	0	0	1	0	0	0	14160	1059	37	1	951	1	SEPT5	22	19709443	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207145	19709443	31595123	14651	38153											
TBX1	6899	broad.mit.edu	37	chr22	19751680	19751680	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccccgtgccgctccaggtAcgccttccacagctcctcct	5	8	7	21	3	0	0	0	0	0	0	4	0	4	0	8	1	3	3	8	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751680A>G	ENST00000332710.4	+	5	644	c.515A>G	c.(514-516)tAc>tGc	p.Y172C	TBX1_ENST00000329705.7_Missense_Mutation_p.Y172C|TBX1_ENST00000359500.3_Missense_Mutation_p.Y172C	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CGCTCCAGGTACGCCTTCCAC	0.672													G	19751680	A	G	19751680	3	3	364	1	0	0	0	0	1	0	0	0	15750	391	14	3	529	3	TBX1	22	19751680	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	42237	19751680	31552886	14652	38154											
TBX1	6899	broad.mit.edu	37	chr22	19751790	19751790	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggcgcgcagtggatgaagCaaatcgtgtccttcgacaag	11	7	14	9	4	0	1	0	1	0	0	3	3	1	2	1	2	1	2	1	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19751790C>T	ENST00000332710.4	+	5	754	c.625C>T	c.(625-627)Caa>Taa	p.Q209*	TBX1_ENST00000329705.7_Nonsense_Mutation_p.Q209*|TBX1_ENST00000359500.3_Nonsense_Mutation_p.Q209*	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	209					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GTGGATGAAGCAAATCGTGTC	0.667													T	19751790	C	T	19751790	4	4	364	1	0	0	0	0	0	1	0	0	15750	711	25	2	639	2	TBX1	22	19751790	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	110	19751790	31552776	14653	38155											
TBX1	6899	broad.mit.edu	37	chr22	19752591	19752591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttcaaaacctttgtgttCgaggagacacgattcaccgc	12	10	8	11	3	2	1	2	0	0	1	3	4	2	1	2	1	2	1	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19752591C>T	ENST00000332710.4	+	6	924	c.795C>T	c.(793-795)ttC>ttT	p.F265F	TBX1_ENST00000329705.7_Silent_p.F265F|TBX1_ENST00000359500.3_Silent_p.F265F	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	265					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				CCTTTGTGTTCGAGGAGACAC	0.557													T	19752591	C	T	19752591	2	4	364	1	0	0	0	0	0	0	0	1	15750	883	31	1		1	TBX1	22	19752591	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	801	19752591	31551975	14654	38156											
C22orf29	79680	broad.mit.edu	37	chr22	19839537	19839537	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagctgggcatgtgcccaGctaggggacccctttctgca	6	8	15	12	0	1	0	0	0	1	0	1	2	1	2	3	4	4	4	3	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19839537G>T	ENST00000405640.1	-	2	916	c.248C>A	c.(247-249)gCt>gAt	p.A83D	C22orf29_ENST00000407472.1_Missense_Mutation_p.A83D|C22orf29_ENST00000328554.4_Missense_Mutation_p.A83D|GNB1L_ENST00000329517.6_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	83										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					CATGTGCCCAGCTAGGGGACC	0.632													T	19839537	G	T	19839537	3	4	364	1	0	0	0	0	1	0	0	0	2162	971	34	4	850	4	C22orf29	22	19839537	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	86946	19839537	31465029	14655	38157											
TXNRD2	10587	broad.mit.edu	37	chr22	19882975	19882975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccgtgtcctccttgcCggtggtgctgtcctcccagg	1	11	14	15	2	0	0	0	0	0	0	4	0	4	0	6	4	3	1	6	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19882975C>T	ENST00000400519.1	-	11	900	c.901G>A	c.(901-903)Ggc>Agc	p.G301S	TXNRD2_ENST00000542719.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000535882.1_Missense_Mutation_p.G301S|TXNRD2_ENST00000334363.9_Missense_Mutation_p.G302S|TXNRD2_ENST00000491939.1_5'UTR|TXNRD2_ENST00000400518.1_Missense_Mutation_p.G272S|TXNRD2_ENST00000400521.1_Missense_Mutation_p.G302S			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	302					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCCTCCTTGCCGGTGGTGCTG	0.662													T	19882975	C	T	19882975	3	4	364	1	0	0	0	0	1	0	0	0	16910	652	23	1	698	1	TXNRD2	22	19882975	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	43438	19882975	31421591	14656	38158											
TXNRD2	10587	broad.mit.edu	37	chr22	19919881	19919881	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttgtggtgtcgcctcaccTtggtcctccatggtggctca	3	13	13	12	1	2	0	2	0	0	0	5	0	4	0	4	5	0	2	4	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19919881T>C	ENST00000400518.1	-	1	195	c.12A>G	c.(10-12)caA>caG	p.Q4Q	TXNRD2_ENST00000542719.1_Splice_Site_p.Q4Q|TXNRD2_ENST00000400519.1_Intron|TXNRD2_ENST00000535882.1_Intron|TXNRD2_ENST00000334363.9_Intron|TXNRD2_ENST00000491939.1_Intron|TXNRD2_ENST00000400521.1_Intron			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	0					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					TCGCCTCACCTTGGTCCTCCA	0.567													C	19919881	T	C	19919881	5	2	364	1	0	0	0	0	0	0	1	0	16910	1624	56	3		3	TXNRD2	22	19919881	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36906	19919881	31384685	14657	38159											
ARVCF	421	broad.mit.edu	37	chr22	19960456	19960456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagccgcacctggaagcGcgccttggtccaaccatctt	8	7	12	14	3	1	0	0	0	1	0	2	2	2	2	5	3	3	1	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19960456G>A	ENST00000263207.3	-	15	2833	c.2542C>T	c.(2542-2544)Cgc>Tgc	p.R848C	ARVCF_ENST00000406522.1_Missense_Mutation_p.R779C|ARVCF_ENST00000401994.1_Missense_Mutation_p.R785C|ARVCF_ENST00000344269.3_Missense_Mutation_p.R785C|ARVCF_ENST00000406259.1_Missense_Mutation_p.R842C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	848					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					ACCTGGAAGCGCGCCTTGGTC	0.567													A	19960456	G	A	19960456	3	1	364	1	0	0	0	0	1	0	0	0	1008	1087	38	1	366	1	ARVCF	22	19960456	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	40575	19960456	31344110	14658	38160											
ARVCF	421	broad.mit.edu	37	chr22	19963209	19963209	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctcagcccactcacCtttggcggcctcagttcgct	5	12	7	17	2	4	0	4	0	1	0	6	0	4	0	3	2	1	2	3	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:19963209C>A	ENST00000263207.3	-	11	2251	c.1960G>T	c.(1960-1962)Ggc>Tgc	p.G654C	ARVCF_ENST00000406522.1_Splice_Site_p.G585C|ARVCF_ENST00000401994.1_Splice_Site_p.G591C|ARVCF_ENST00000344269.3_Splice_Site_p.G591C|ARVCF_ENST00000406259.1_Splice_Site_p.G648C	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	654					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					GCCCACTCACCTTTGGCGGCC	0.587													A	19963209	C	A	19963209	5	1	364	1	0	0	0	0	0	0	1	0	1008	695	24	4	964	4	ARVCF	22	19963209	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2753	19963209	31341357	14659	38161											
DGCR8	54487	broad.mit.edu	37	chr22	20073770	20073770	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaactgtagtggccacaGcccgcgcaccgcccggcacg	7	3	12	19	6	0	0	0	0	0	0	0	1	0	0	5	2	2	3	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20073770G>T	ENST00000351989.3	+	2	713	c.284G>T	c.(283-285)aGc>aTc	p.S95I	DGCR8_ENST00000383024.2_Missense_Mutation_p.S95I|DGCR8_ENST00000407755.1_Missense_Mutation_p.S95I	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	95	Necessary for interaction with NCL.|Necessary for nuclear localization and retention.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					AGTGGCCACAGCCCGCGCACC	0.572													T	20073770	G	T	20073770	3	4	364	1	0	0	0	0	1	0	0	0	4503	971	34	4	286	4	DGCR8	22	20073770	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110561	20073770	31230796	14660	38162											
DGCR8	54487	broad.mit.edu	37	chr22	20079041	20079041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcaggacttgggctgagCggcggcaattcaatcgggaa	11	8	14	8	3	2	1	2	1	0	0	3	3	2	3	0	5	1	2	0	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20079041C>T	ENST00000351989.3	+	6	1819	c.1390C>T	c.(1390-1392)Cgg>Tgg	p.R464W	DGCR8_ENST00000383024.2_Missense_Mutation_p.R464W|DGCR8_ENST00000407755.1_Missense_Mutation_p.R464W	NM_022720.6	NP_073557.3	Q8WYQ5	DGCR8_HUMAN	DGCR8 microprocessor complex subunit	464	Necessary for heme-binding and pri-miRNA processing.				primary miRNA processing	cytoplasm|microtubule cytoskeleton|nucleolus|nucleoplasm	double-stranded RNA binding|metal ion binding|protein binding			NS(2)|breast(1)|endometrium(5)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	22	Colorectal(54;0.0993)					TTGGGCTGAGCGGCGGCAATT	0.488													T	20079041	C	T	20079041	3	4	364	1	0	0	0	0	1	0	0	0	4503	759	27	1	1408	1	DGCR8	22	20079041	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5271	20079041	31225525	14661	38163											
TRMT2A	27037	broad.mit.edu	37	chr22	20100486	20100486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagacgtacagcagccGcctgaggttcttagctctcc	8	9	11	13	2	2	2	0	2	2	1	3	3	2	2	3	1	4	5	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20100486G>A	ENST00000252136.7	-	11	1982	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	TRMT2A_ENST00000404751.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000403707.3_Missense_Mutation_p.R532W|TRMT2A_ENST00000439169.2_Missense_Mutation_p.R550W	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	532					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						TACAGCAGCCGCCTGAGGTTC	0.607													A	20100486	G	A	20100486	3	1	364	1	0	0	0	0	1	0	0	0	16666	1086	38	1	291	1	TRMT2A	22	20100486	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21445	20100486	31204080	14662	38164											
TRMT2A	27037	broad.mit.edu	37	chr22	20103712	20103712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgcctcctcctggccatggGgtcggccttgggccgggcca	2	8	15	16	3	0	0	0	0	0	0	4	0	2	0	7	6	0	0	7	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20103712G>A	ENST00000252136.7	-	2	836	c.448C>T	c.(448-450)Ccc>Tcc	p.P150S	RANBP1_ENST00000430524.1_5'UTR|TRMT2A_ENST00000404751.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000403707.3_Missense_Mutation_p.P150S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.P150S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	150					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CTGGCCATGGGGTCGGCCTTG	0.662													A	20103712	G	A	20103712	3	1	364	1	0	0	0	0	1	0	0	0	16666	1232	43	2	1473	2	TRMT2A	22	20103712	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3226	20103712	31200854	14663	38165											
RANBP1	5902	broad.mit.edu	37	chr22	20109792	20109792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttttcttgcaggcgggCaaaactgttccgatttgcct	6	13	11	11	3	1	0	0	0	1	0	2	1	2	0	2	3	3	4	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20109792C>T	ENST00000402752.1	+	3	384	c.158C>T	c.(157-159)gCa>gTa	p.A53V	RANBP1_ENST00000430524.1_5'UTR|RANBP1_ENST00000331821.3_Missense_Mutation_p.A53V	NM_001278640.1	NP_001265569.1	P43487	RANG_HUMAN	RAN binding protein 1	53	RanBD1.				intracellular transport|signal transduction|viral reproduction	nuclear envelope	GDP-dissociation inhibitor activity|GTPase activator activity|Ran GTPase binding			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4	Colorectal(54;0.0993)					TGCAGGCGGGCAAAACTGTTC	0.577													T	20109792	C	T	20109792	3	4	364	1	0	0	0	0	1	0	0	0	13113	710	25	2	168	2	RANBP1	22	20109792	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6080	20109792	31194774	14664	38166											
ZNF74	7625	broad.mit.edu	37	chr22	20760798	20760798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctcatcgtgcaccggcGcatccacacaggcgagaagc	10	5	10	16	4	1	1	1	0	0	1	3	2	2	1	3	2	3	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20760798G>A	ENST00000400451.2	+	5	1989	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	ZNF74_ENST00000405993.1_Missense_Mutation_p.R460H|ZNF74_ENST00000356671.5_Missense_Mutation_p.R492H|ZNF74_ENST00000403682.3_3'UTR|ZNF74_ENST00000357502.5_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	492					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GTGCACCGGCGCATCCACACA	0.637													A	20760798	G	A	20760798	3	1	364	1	0	0	0	0	1	0	0	0	18227	1087	38	1	1493	1	ZNF74	22	20760798	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	651006	20760798	30543768	14665	38167											
KLHL22	84861	broad.mit.edu	37	chr22	20796502	20796502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcagggtgagcacacagGccgccaggcctgagatggag	9	3	19	10	1	0	2	0	2	0	1	0	4	0	3	3	6	1	2	3	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20796502G>A	ENST00000328879.4	-	7	1919	c.1763C>T	c.(1762-1764)gCc>gTc	p.A588V	KLHL22_ENST00000440659.2_Missense_Mutation_p.A445V	NM_032775.3	NP_116164.2	Q53GT1	KLH22_HUMAN	kelch-like family member 22	588					cell division	Cul3-RING ubiquitin ligase complex				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	20	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GAGCACACAGGCCGCCAGGCC	0.667													A	20796502	G	A	20796502	3	1	364	1	0	0	0	0	1	0	0	0	8435	1203	42	2	145	2	KLHL22	22	20796502	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35704	20796502	30508064	14666	38168											
MED15	51586	broad.mit.edu	37	chr22	20909246	20909246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgaatgcactccagagcCtgactggcggacctgctgcg	8	8	12	13	2	0	3	0	2	0	1	1	4	1	4	3	2	4	2	3	2	2	1	rs145726043		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:20909246C>A	ENST00000263205.7	+	5	331	c.262C>A	c.(262-264)Ctg>Atg	p.L88M	MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000292733.7_Missense_Mutation_p.L88M|MED15_ENST00000406969.1_Missense_Mutation_p.L62M|MED15_ENST00000541476.1_Missense_Mutation_p.L62M|MED15_ENST00000425759.2_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	88					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			ACTCCAGAGCCTGACTGGCGG	0.617													A	20909246	C	A	20909246	3	1	364	1	0	0	0	0	1	0	0	0	9508	680	24	4	280	4	MED15	22	20909246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112744	20909246	30395320	14667	38169											
PI4KA	5297	broad.mit.edu	37	chr22	21075617	21075617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggccctcttcatctagataAatgttagtcttcatgttcca	9	16	6	10	0	5	1	2	0	3	1	6	1	6	1	2	1	0	2	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21075617A>C	ENST00000255882.6	-	43	5171	c.5085T>G	c.(5083-5085)atT>atG	p.I1695M	PI4KA_ENST00000414196.3_Missense_Mutation_p.I447M|PI4KA_ENST00000572273.1_Missense_Mutation_p.I1637M	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1637	Pleckstrin homology (PH) domain conferring phosphoinositide binding specificity (By similarity).				phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CATCTAGATAAATGTTAGTCT	0.502													C	21075617	A	C	21075617	3	2	364	1	0	0	0	0	1	0	0	0	11950	10	1	5	1275	5	PI4KA	22	21075617	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	166371	21075617	30228949	14668	38170											
PI4KA	5297	broad.mit.edu	37	chr22	21083711	21083711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagatctccagttggccacGctgttctctccggcctggtc	4	13	10	14	2	2	1	0	0	2	1	6	1	3	1	4	3	0	3	4	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21083711G>A	ENST00000255882.6	-	39	4658	c.4572C>T	c.(4570-4572)agC>agT	p.S1524S	PI4KA_ENST00000414196.3_Silent_p.S276S|PI4KA_ENST00000572273.1_Silent_p.S1466S	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1466					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			AGTTGGCCACGCTGTTCTCTC	0.562													A	21083711	G	A	21083711	2	1	364	1	0	0	0	0	0	0	0	1	11950	1078	38	1		1	PI4KA	22	21083711	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8094	21083711	30220855	14669	38171											
PI4KA	5297	broad.mit.edu	37	chr22	21104213	21104213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggtgggacttggtgaCggtaggtgcccacttcatgg	6	10	16	9	1	1	1	1	1	0	0	1	2	1	2	1	6	2	2	1	6	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21104213C>T	ENST00000255882.6	-	28	3309	c.3223G>A	c.(3223-3225)Gtc>Atc	p.V1075I	PI4KA_ENST00000572273.1_Missense_Mutation_p.V1017I	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1017					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GACTTGGTGACGGTAGGTGCC	0.498													T	21104213	C	T	21104213	3	4	364	1	0	0	0	0	1	0	0	0	11950	536	19	1	3197	1	PI4KA	22	21104213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20502	21104213	30200353	14670	38172											
PI4KA	5297	broad.mit.edu	37	chr22	21107203	21107203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcttacttatccaccagaCcagatagatacttgtctgcc	11	11	7	12	0	1	3	0	0	1	3	2	4	2	3	4	0	4	1	4	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21107203C>A	ENST00000255882.6	-	25	3061	c.2975G>T	c.(2974-2976)gGt>gTt	p.G992V	PI4KA_ENST00000572273.1_Missense_Mutation_p.G934V	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	934					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ATCCACCAGACCAGATAGATA	0.423													A	21107203	C	A	21107203	3	1	364	1	0	0	0	0	1	0	0	0	11950	507	18	4	3457	4	PI4KA	22	21107203	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2990	21107203	30197363	14671	38173											
SERPIND1	3053	broad.mit.edu	37	chr22	21140425	21140425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatctcagaccaaaggatcGccatcgacctggtaaccact	12	7	8	14	2	1	1	1	0	1	1	4	3	1	2	4	2	1	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21140425G>A	ENST00000215727.5	+	4	1580	c.1297G>A	c.(1297-1299)Gcc>Acc	p.A433T	SERPIND1_ENST00000406799.1_Missense_Mutation_p.A433T|PI4KA_ENST00000572273.1_Intron|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	433					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	CCAAAGGATCGCCATCGACCT	0.572													A	21140425	G	A	21140425	3	1	364	1	0	0	0	0	1	0	0	0	14203	1087	38	1	1307	1	SERPIND1	22	21140425	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33222	21140425	30164141	14672	38174											
SNAP29	9342	broad.mit.edu	37	chr22	21237800	21237800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttctgccatgagtactgatGcttacccaaagaacccacac	12	9	7	13	0	1	3	0	2	1	1	1	3	1	3	3	0	5	3	3	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21237800G>A	ENST00000215730.7	+	4	690	c.562G>A	c.(562-564)Gct>Act	p.A188T		NM_004782.3	NP_004773.1	O95721	SNP29_HUMAN	synaptosomal-associated protein, 29kDa						cellular membrane fusion|exocytosis|protein transport|vesicle targeting	cell junction|cytoplasm|nucleus|synapse|synaptosome	SNAP receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|upper_aerodigestive_tract(1)	9	all_cancers(11;2.77e-25)|all_epithelial(7;8.92e-24)|Lung NSC(8;1.49e-15)|all_lung(8;2.54e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000592)|Lung(15;0.0117)			GAGTACTGATGCTTACCCAAA	0.498													A	21237800	G	A	21237800	3	1	364	1	0	0	0	0	1	0	0	0	14925	1319	46	2	576	2	SNAP29	22	21237800	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97375	21237800	30066766	14673	38175											
CRKL	1399	broad.mit.edu	37	chr22	21288371	21288371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatcccagaacctgctcatGcatacgctcaacctcagacc	11	7	7	16	1	3	2	3	0	0	2	4	3	4	3	4	1	5	3	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21288371G>A	ENST00000354336.3	+	2	1125	c.616G>A	c.(616-618)Gca>Aca	p.A206T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	206					JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			ACCTGCTCATGCATACGCTCA	0.502													A	21288371	G	A	21288371	3	1	364	1	0	0	0	0	1	0	0	0	3916	1319	46	2	622	2	CRKL	22	21288371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50571	21288371	30016195	14674	38176											
CRKL	1399	broad.mit.edu	37	chr22	21304088	21304088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagggcttttcccctttacGcacgtcaaaatctttgaccc	10	12	6	13	2	2	1	1	1	1	0	3	1	3	1	3	1	1	2	3	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21304088G>A	ENST00000354336.3	+	3	1376	c.867G>A	c.(865-867)acG>acA	p.T289T		NM_005207.3	NP_005198.1	P46109	CRKL_HUMAN	v-crk avian sarcoma virus CT10 oncogene homolog-like	289	SH3 2.				JNK cascade|Ras protein signal transduction	cytosol	protein tyrosine kinase activity|SH3/SH2 adaptor activity|signal transducer activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)	14	all_cancers(11;1.16e-25)|all_epithelial(7;3.37e-24)|Lung NSC(8;7.25e-16)|all_lung(8;1.37e-14)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.176)			TCCCCTTTACGCACGTCAAAA	0.478													A	21304088	G	A	21304088	2	1	364	1	0	0	0	0	0	0	0	1	3916	1074	38	1		1	CRKL	22	21304088	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15717	21304088	30000478	14675	38177											
AIFM3	150209	broad.mit.edu	37	chr22	21328398	21328398	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcccctggcacggcgcctgCttcaacatcagcactgggga	7	7	12	15	2	2	0	2	0	0	0	2	1	2	1	3	4	4	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21328398C>A	ENST00000399167.2	+	5	642	c.402C>A	c.(400-402)tgC>tgA	p.C134*	AIFM3_ENST00000440238.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000399163.2_Nonsense_Mutation_p.C134*|AIFM3_ENST00000333607.6_Nonsense_Mutation_p.C134*|AIFM3_ENST00000335375.5_Nonsense_Mutation_p.C122*|AIFM3_ENST00000405089.1_Nonsense_Mutation_p.C140*	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGCGCCTGCTTCAACATCA	0.662													A	21328398	C	A	21328398	4	1	364	1	0	0	0	0	0	1	0	0	428	805	28	4	434	4	AIFM3	22	21328398	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24310	21328398	29976168	14676	38178											
LZTR1	8216	broad.mit.edu	37	chr22	21343119	21343119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggggccacggtgtacaGtgacaagctgtggatctttg	8	10	14	9	1	1	1	0	1	1	0	1	2	1	2	2	4	2	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21343119G>T	ENST00000215739.8	+	6	910	c.551G>T	c.(550-552)aGt>aTt	p.S184I	LZTR1_ENST00000389355.3_Missense_Mutation_p.S165I|LZTR1_ENST00000479606.1_3'UTR	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	184					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			ACGGTGTACAGTGACAAGCTG	0.652													T	21343119	G	T	21343119	3	4	364	1	0	0	0	0	1	0	0	0	9208	1029	36	4	573	4	LZTR1	22	21343119	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14721	21343119	29961447	14677	38179											
SLC7A4	6545	broad.mit.edu	37	chr22	21384352	21384352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggccagggctggctgggCctggggagctgggcggggaa	4	4	25	8	1	0	0	0	0	0	0	0	2	0	2	2	10	1	3	2	10	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21384352C>T	ENST00000382932.2	-	3	1338	c.1271G>A	c.(1270-1272)gGc>gAc	p.G424D	SLC7A4_ENST00000403586.1_Missense_Mutation_p.G424D	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	424					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	GCTGGCTGGGCCTGGGGAGCT	0.632													T	21384352	C	T	21384352	3	4	364	1	0	0	0	0	1	0	0	0	14793	739	26	2	648	2	SLC7A4	22	21384352	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41233	21384352	29920214	14678	38180											
SLC7A4	6545	broad.mit.edu	37	chr22	21385780	21385780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacagctcgcccatggataCgtaggtgaacaggtaggcag	11	6	13	11	2	0	1	0	1	0	0	1	2	0	2	2	4	3	4	2	4	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21385780C>T	ENST00000382932.2	-	2	389	c.322G>A	c.(322-324)Gta>Ata	p.V108I	SLC7A4_ENST00000403586.1_Missense_Mutation_p.V108I|AC002472.11_ENST00000450652.1_RNA	NM_004173.2	NP_004164.2	O43246	CTR4_HUMAN	solute carrier family 7, member 4	108					cellular amino acid metabolic process	integral to membrane	basic amino acid transmembrane transporter activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(7)|ovary(1)|prostate(2)	18	all_cancers(11;2.85e-22)|Lung NSC(8;4.21e-14)|all_lung(8;6.08e-13)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0968)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCATGGATACGTAGGTGAAC	0.627													T	21385780	C	T	21385780	3	4	364	1	0	0	0	0	1	0	0	0	14793	536	19	1	1601	1	SLC7A4	22	21385780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1428	21385780	29918786	14679	38181											
CCDC116	164592	broad.mit.edu	37	chr22	21988347	21988347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccactggtcccagaaatgCggccagcctgcaagccgggc	9	4	13	15	2	0	1	0	0	0	1	1	1	1	1	5	3	5	1	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988347C>T	ENST00000292779.3	+	3	270	c.109C>T	c.(109-111)Cgg>Tgg	p.R37W	CCDC116_ENST00000607942.1_Missense_Mutation_p.R37W	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	37										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCCAGAAATGCGGCCAGCCTG	0.632													T	21988347	C	T	21988347	3	4	364	1	0	0	0	0	1	0	0	0	2779	759	27	1	115	1	CCDC116	22	21988347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	602567	21988347	29316219	14680	38182											
CCDC116	164592	broad.mit.edu	37	chr22	21988801	21988801	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctcattgccacctgtgaGggacaaactcctgctggaga	10	8	12	11	0	1	2	1	1	0	1	2	4	2	3	3	3	3	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:21988801G>T	ENST00000292779.3	+	3	724	c.563G>T	c.(562-564)aGg>aTg	p.R188M	CCDC116_ENST00000607942.1_Missense_Mutation_p.R188M	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	188										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CCACCTGTGAGGGACAAACTC	0.627													T	21988801	G	T	21988801	3	4	364	1	0	0	0	0	1	0	0	0	2779	1000	35	4	569	4	CCDC116	22	21988801	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	454	21988801	29315765	14681	38183											
PPIL2	23759	broad.mit.edu	37	chr22	22039067	22039067	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggccaaacaggacccGtcttattatctgaaaaatac	16	8	8	9	1	2	2	0	1	2	1	2	4	2	3	2	2	2	0	2	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22039067G>A	ENST00000335025.8	+	10	670	c.579G>A	c.(577-579)ccG>ccA	p.P193P	PPIL2_ENST00000398831.3_Silent_p.P193P|PPIL2_ENST00000492445.2_Silent_p.P193P|PPIL2_ENST00000456792.2_Silent_p.P172P|PPIL2_ENST00000406385.1_Silent_p.P193P|PPIL2_ENST00000412327.1_Silent_p.P193P			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity	p.P193P(1)		endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AACAGGACCCGTCTTATTATC	0.547													A	22039067	G	A	22039067	2	1	364	1	0	0	0	0	0	0	0	1	12409	1132	40	1		1	PPIL2	22	22039067	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50266	22039067	29265499	14682	38184											
MAPK1	5594	broad.mit.edu	37	chr22	22143097	22143097	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaatggacttggtgtagcCctgcaggagaaagagagaaa	15	7	13	6	0	1	3	1	0	0	3	1	6	1	4	1	3	2	2	1	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22143097C>T	ENST00000215832.6	-	5	798	c.610G>A	c.(610-612)Ggc>Agc	p.G204S	MAPK1_ENST00000544786.1_Splice_Site_p.G204S|MAPK1_ENST00000398822.3_Splice_Site_p.G204S	NM_002745.4	NP_002736.3	P28482	MK01_HUMAN	mitogen-activated protein kinase 1	204	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|epidermal growth factor receptor signaling pathway|ERK1 and ERK2 cascade|induction of apoptosis|innate immune response|insulin receptor signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|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|transcription, DNA-dependent	cytosol|nucleoplasm	ATP binding|DNA binding|MAP kinase activity|phosphatase binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Colorectal(54;0.105)	all_lung(157;3.89e-05)		READ - Rectum adenocarcinoma(21;0.0689)	Arsenic trioxide(DB01169)	TTGGTGTAGCCCTGCAGGAGA	0.453													T	22143097	C	T	22143097	5	4	364	1	0	0	0	0	0	0	1	0	9346	637	22	2	488	2	MAPK1	22	22143097	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104030	22143097	29161469	14683	38185											
PPM1F	9647	broad.mit.edu	37	chr22	22277493	22277493	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggagcctgggtctcaGgttctggaaggctggagggc	5	10	19	7	0	2	0	1	0	2	0	3	3	2	3	1	8	1	2	1	8	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22277493G>T	ENST00000407142.1	-	6	1893	c.833C>A	c.(832-834)cCt>cAt	p.P278H	PPM1F_ENST00000263212.5_Missense_Mutation_p.P446H|PPM1F_ENST00000538191.1_Missense_Mutation_p.P342H			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	446					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		CTGGGTCTCAGGTTCTGGAAG	0.642													T	22277493	G	T	22277493	3	4	364	1	0	0	0	0	1	0	0	0	12421	1000	35	4	31	4	PPM1F	22	22277493	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	134396	22277493	29027073	14684	38186											
ZNF280B	140883	broad.mit.edu	37	chr22	22842384	22842384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccctataatgacacatgTatggtgttgctgttttgaaa	10	14	10	7	0	0	2	0	2	0	0	0	2	0	2	2	2	1	4	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22842384T>C	ENST00000360412.2	-	4	2115	c.1340A>G	c.(1339-1341)tAc>tGc	p.Y447C	ZNF280B_ENST00000406426.1_Missense_Mutation_p.Y447C	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	447					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ATGACACATGTATGGTGTTGC	0.413													C	22842384	T	C	22842384	3	2	364	1	0	0	0	0	1	0	0	0	17916	1638	57	3	295	3	ZNF280B	22	22842384	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	564891	22842384	28462182	14685	38187											
ZNF280A	129025	broad.mit.edu	37	chr22	22868777	22868777	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcaaacctggcacacgtagGgcatttcgccaggcttatga	10	8	12	11	2	0	1	0	1	0	0	1	1	0	1	2	4	1	5	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:22868777G>T	ENST00000302097.3	-	2	1430	c.1178C>A	c.(1177-1179)cCc>cAc	p.P393H		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		GCACACGTAGGGCATTTCGCC	0.443													T	22868777	G	T	22868777	3	4	364	1	0	0	0	0	1	0	0	0	17915	1232	43	4	454	4	ZNF280A	22	22868777	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26393	22868777	28435789	14686	38188											
GNAZ	2781	broad.mit.edu	37	chr22	23465441	23465441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacaagggccagaacacgtaCgaggaggccgctgtctacat	12	6	12	11	3	1	1	0	0	1	1	1	3	1	2	2	3	4	2	2	3	5	3	rs146853897	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23465441C>T	ENST00000248996.4	+	3	1557	c.891C>T	c.(889-891)taC>taT	p.Y297Y	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	297						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGAACACGTACGAGGAGGCCG	0.572													T	23465441	C	T	23465441	2	4	364	1	0	0	0	0	0	0	0	1	6570	547	19	1		1	GNAZ	22	23465441	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	596664	23465441	27839125	14687	38189											
RAB36	9609	broad.mit.edu	37	chr22	23487629	23487629	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgcccacgacgtcgaCgattcgtgtagcccgcaggt	7	6	12	16	7	0	0	0	0	0	0	2	4	0	0	4	1	1	2	4	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23487629C>T	ENST00000263116.2	+	1	117	c.77C>T	c.(76-78)aCg>aTg	p.T26M	RAB36_ENST00000341989.4_Missense_Mutation_p.T26M	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	26					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding	p.T26K(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		ACGACGTCGACGATTCGTGTA	0.677													T	23487629	C	T	23487629	3	4	364	1	0	0	0	0	1	0	0	0	13014	536	19	1	79	1	RAB36	22	23487629	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22188	23487629	27816937	14688	38190											
BCR	613	broad.mit.edu	37	chr22	23596045	23596045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaccgggcagaggagcagCgccggcaccaagatgggctg	10	2	17	12	3	0	3	0	0	0	3	0	4	0	4	3	4	2	4	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23596045C>T	ENST00000305877.8	+	2	2090	c.1339C>T	c.(1339-1341)Cgc>Tgc	p.R447C	BCR_ENST00000359540.3_Missense_Mutation_p.R447C	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	447					regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						AGAGGAGCAGCGCCGGCACCA	0.627			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								T	23596045	C	T	23596045	3	4	364	1	0	0	0	0	1	0	0	0	1393	768	27	1	1345	1	BCR	22	23596045	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	108416	23596045	27708521	14689	38191											
BCR	613	broad.mit.edu	37	chr22	23603637	23603637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaaagtgcctgagctctaCgagatccacaaggagttcta	12	10	9	10	1	3	2	1	1	2	1	4	4	4	3	2	1	3	2	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:23603637C>T	ENST00000305877.8	+	4	2413	c.1662C>T	c.(1660-1662)taC>taT	p.Y554Y	BCR_ENST00000359540.3_Silent_p.Y554Y	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	554	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CTGAGCTCTACGAGATCCACA	0.587			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								T	23603637	C	T	23603637	2	4	364	1	0	0	0	0	0	0	0	1	1393	547	19	1		1	BCR	22	23603637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7592	23603637	27700929	14690	38192											
ZNF70	7621	broad.mit.edu	37	chr22	24086151	24086151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgccacactcgcaggTgtagggcttcttgccggtgt	4	12	14	11	2	1	0	0	0	1	0	2	0	1	0	2	4	2	4	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24086151T>C	ENST00000341976.3	-	2	1637	c.1177A>G	c.(1177-1179)Acc>Gcc	p.T393A		NM_021916.2	NP_068735.1	Q9UC06	ZNF70_HUMAN	zinc finger protein 70	393						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	21						CACTCGCAGGTGTAGGGCTTC	0.577													C	24086151	T	C	24086151	3	2	364	1	0	0	0	0	1	0	0	0	18204	1696	59	3	167	3	ZNF70	22	24086151	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	482514	24086151	27218415	14691	38193											
MMP11	4320	broad.mit.edu	37	chr22	24122551	24122551	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatctccctccaggatccTtcggttcccatggcagttgg	5	12	9	15	1	1	0	0	0	1	0	7	1	5	1	5	4	0	3	5	4	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24122551T>G	ENST00000215743.3	+	3	396	c.344T>G	c.(343-345)cTt>cGt	p.L115R	MMP11_ENST00000477567.1_3'UTR	NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	115					collagen catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)				TCCAGGATCCTTCGGTTCCCA	0.627													G	24122551	T	G	24122551	3	3	364	1	0	0	0	0	1	0	0	0	9725	1609	56	5	354	5	MMP11	22	24122551	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	36400	24122551	27182015	14692	38194											
SMARCB1	6598	broad.mit.edu	37	chr22	24135839	24135839	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgatgagaagtacaaggCtgtgtccatcagcacagagc	14	6	11	10	1	1	2	1	1	0	2	2	4	2	2	1	1	4	3	1	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24135839C>A	ENST00000344921.6	+	3	506	c.299C>A	c.(298-300)gCt>gAt	p.A100D	SMARCB1_ENST00000407082.3_Missense_Mutation_p.A109D|SMARCB1_ENST00000407422.3_Missense_Mutation_p.A100D|SMARCB1_ENST00000263121.7_Missense_Mutation_p.A109D			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	109					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				AAGTACAAGGCTGTGTCCATC	0.532			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							A	24135839	C	A	24135839	3	1	364	1	0	0	0	0	1	0	0	0	14868	797	28	4	336	4	SMARCB1	22	24135839	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13288	24135839	27168727	14693	38195											
SLC2A11	66035	broad.mit.edu	37	chr22	24210757	24210757	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcttatgtggtccctcatCgtgtctctgtatcccctggg	3	15	10	13	1	2	0	1	0	1	0	6	0	4	0	3	2	1	2	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24210757C>T	ENST00000345044.6	+	3	478	c.210C>T	c.(208-210)atC>atT	p.I70I	SLC2A11_ENST00000403208.3_Silent_p.I70I|AP000350.10_ENST00000433835.3_Silent_p.I35I|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Silent_p.I77I|SLC2A11_ENST00000316185.8_Silent_p.I73I|SLC2A11_ENST00000405847.1_Silent_p.I70I			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	70						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GGTCCCTCATCGTGTCTCTGT	0.562													T	24210757	C	T	24210757	2	4	364	1	0	0	0	0	0	0	0	1	14634	874	31	1		1	SLC2A11	22	24210757	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74918	24210757	27093809	14694	38196											
SLC2A11	66035	broad.mit.edu	37	chr22	24220040	24220040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgactgtggagacacCgaggcctgcctggcaggtga	8	8	14	11	1	1	3	1	2	0	1	1	5	1	3	3	4	1	1	3	4	0	1	rs145179201	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24220040C>T	ENST00000345044.6	+	6	937	c.669C>T	c.(667-669)acC>acT	p.T223T	AP000350.10_ENST00000433835.3_Intron|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000398356.2_Silent_p.T230T|SLC2A11_ENST00000316185.8_Silent_p.T226T			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	223						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GTGGAGACACCGAGGCCTGCC	0.637													T	24220040	C	T	24220040	2	4	364	1	0	0	0	0	0	0	0	1	14634	639	23	1		1	SLC2A11	22	24220040	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9283	24220040	27084526	14695	38197											
GSTT1	2952	broad.mit.edu	37	chr22	24376858	24376858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggctacgaggtcagctaaGgagatgtgaggaccagtaag	13	7	15	6	1	1	2	1	1	0	1	1	5	1	3	1	4	2	3	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24376858G>A	ENST00000248935.5	-	4	544	c.492C>T	c.(490-492)tcC>tcT	p.S164S	GSTT1_ENST00000439996.2_Silent_p.S46S	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	164	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	GGTCAGCTAAGGAGATGTGAG	0.577									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				A	24376858	G	A	24376858	2	1	364	1	0	0	0	0	0	0	0	1	6900	987	35	2		2	GSTT1	22	24376858	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156818	24376858	26927708	14696	38198											
GSTT1	2952	broad.mit.edu	37	chr22	24381723	24381723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtcaaggtgaagtccccGtccttcaaggctggcacctt	7	10	10	14	2	2	1	2	1	0	0	5	1	5	1	5	3	0	2	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24381723G>A	ENST00000248935.5	-	2	229	c.177C>T	c.(175-177)gaC>gaT	p.D59D	GSTT1_ENST00000439996.2_Intron	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	59	GST N-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	TGAAGTCCCCGTCCTTCAAGG	0.562									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				A	24381723	G	A	24381723	2	1	364	1	0	0	0	0	0	0	0	1	6900	1136	40	1		1	GSTT1	22	24381723	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4865	24381723	26922843	14697	38199											
CABIN1	23523	broad.mit.edu	37	chr22	24439447	24439447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctcatccggatccccctgGctcgccatgcttttgaggaa	6	10	11	14	2	1	1	1	1	0	0	4	3	3	3	4	4	1	3	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24439447G>A	ENST00000398319.2	+	6	812	c.427G>A	c.(427-429)Gct>Act	p.A143T	CABIN1_ENST00000263119.5_Missense_Mutation_p.A143T|CABIN1_ENST00000405822.2_Missense_Mutation_p.A143T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	143					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCCCCTGGCTCGCCATGC	0.542													A	24439447	G	A	24439447	3	1	364	1	0	0	0	0	1	0	0	0	2554	1203	42	2	445	2	CABIN1	22	24439447	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57724	24439447	26865119	14698	38200											
CABIN1	23523	broad.mit.edu	37	chr22	24451535	24451535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacccagctgtggctgtcGccgagcctgtggtctcctac	5	9	11	16	2	1	0	0	0	1	0	3	1	1	0	5	2	4	2	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24451535G>A	ENST00000398319.2	+	9	1391	c.1006G>A	c.(1006-1008)Gcc>Acc	p.A336T	CABIN1_ENST00000263119.5_Missense_Mutation_p.A336T|CABIN1_ENST00000405822.2_Missense_Mutation_p.A286T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	336					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TGTGGCTGTCGCCGAGCCTGT	0.612													A	24451535	G	A	24451535	3	1	364	1	0	0	0	0	1	0	0	0	2554	1087	38	1	1036	1	CABIN1	22	24451535	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12088	24451535	26853031	14699	38201											
CABIN1	23523	broad.mit.edu	37	chr22	24458474	24458474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagtggctgctgaccaaagGcagaagctctgcaggtagga	11	6	14	10	0	1	2	0	1	1	1	1	3	1	3	2	4	3	6	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24458474G>A	ENST00000398319.2	+	13	2067	c.1682G>A	c.(1681-1683)gGc>gAc	p.G561D	CABIN1_ENST00000263119.5_Missense_Mutation_p.G561D|CABIN1_ENST00000405822.2_Missense_Mutation_p.G511D	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	561					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGACCAAAGGCAGAAGCTCT	0.542													A	24458474	G	A	24458474	3	1	364	1	0	0	0	0	1	0	0	0	2554	1203	42	2	1728	2	CABIN1	22	24458474	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6939	24458474	26846092	14700	38202											
CABIN1	23523	broad.mit.edu	37	chr22	24515526	24515526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttcccccaggggctgcCggctggtgctgaggagcagc	4	6	17	14	1	0	1	0	1	0	0	1	2	1	2	4	6	4	4	4	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24515526C>T	ENST00000398319.2	+	28	4878	c.4493C>T	c.(4492-4494)cCg>cTg	p.P1498L	CABIN1_ENST00000263119.5_Missense_Mutation_p.P1498L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1419L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	1498					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity	p.P1498Q(1)		breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CAGGGGCTGCCGGCTGGTGCT	0.642													T	24515526	C	T	24515526	3	4	364	1	0	0	0	0	1	0	0	0	2554	652	23	1	4599	1	CABIN1	22	24515526	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57052	24515526	26789040	14701	38203											
SUSD2	56241	broad.mit.edu	37	chr22	24581676	24581676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacacagcggacgggaCgcagctcctgacagctgact	9	6	12	14	3	0	2	0	2	0	0	1	4	1	4	1	2	5	4	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24581676C>T	ENST00000358321.3	+	8	1379	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	373	AMOP.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCGGACGGGACGCAGCTCCTG	0.701													T	24581676	C	T	24581676	3	4	364	1	0	0	0	0	1	0	0	0	15504	536	19	1	1148	1	SUSD2	22	24581676	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66150	24581676	26722890	14702	38204											
SUSD2	56241	broad.mit.edu	37	chr22	24582270	24582270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcagtggccgtccaggAgggcaactcagatgtggtgg	8	6	17	10	2	1	1	1	0	0	1	2	3	2	2	3	5	1	2	3	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24582270A>G	ENST00000358321.3	+	10	1790	c.1529A>G	c.(1528-1530)gAg>gGg	p.E510G		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	510	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCCGTCCAGGAGGGCAACTCA	0.652													G	24582270	A	G	24582270	3	3	364	1	0	0	0	0	1	0	0	0	15504	304	11	3	1567	3	SUSD2	22	24582270	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	594	24582270	26722296	14703	38205											
SUSD2	56241	broad.mit.edu	37	chr22	24583574	24583574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtcctccctgctcacctacGattcctggttcctggtccac	4	12	7	18	2	1	0	1	0	0	0	6	1	6	0	6	2	2	2	6	2	1	3	rs114116915	by1000genomes	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24583574G>A	ENST00000358321.3	+	12	2188	c.1927G>A	c.(1927-1929)Gat>Aat	p.D643N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	643	VWFD.				immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						GCTCACCTACGATTCCTGGTT	0.632													A	24583574	G	A	24583574	3	1	364	1	0	0	0	0	1	0	0	0	15504	1058	37	1	1973	1	SUSD2	22	24583574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1304	24583574	26720992	14704	38206											
GGT5	2687	broad.mit.edu	37	chr22	24616068	24616068	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctggccacggtcttggAgtcccctctgcacctcctgg	3	11	12	15	1	3	0	0	0	3	0	5	1	5	1	5	5	1	2	5	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24616068A>T	ENST00000327365.4	-	12	2047	c.1631T>A	c.(1630-1632)cTc>cAc	p.L544H	GGT5_ENST00000398292.3_Missense_Mutation_p.L545H|GGT5_ENST00000418439.2_Missense_Mutation_p.L468H|GGT5_ENST00000263112.7_Missense_Mutation_p.L512H	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	544					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						ACGGTCTTGGAGTCCCCTCTG	0.617													T	24616068	A	T	24616068	3	4	364	1	0	0	0	0	1	0	0	0	6418	304	11	5	133	5	GGT5	22	24616068	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	32494	24616068	26688498	14705	38207											
GGT5	2687	broad.mit.edu	37	chr22	24622178	24622178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtggtccccccggccatcGatctgttggcggatgagctg	4	10	15	12	3	1	1	0	1	1	0	3	3	2	2	4	5	1	2	4	5	0	1	rs144798635		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24622178G>A	ENST00000327365.4	-	8	1511	c.1095C>T	c.(1093-1095)atC>atT	p.I365I	GGT5_ENST00000398292.3_Silent_p.I365I|GGT5_ENST00000418439.2_Silent_p.I288I|GGT5_ENST00000263112.7_Silent_p.I333I	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	365					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.I365I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						CCCGGCCATCGATCTGTTGGC	0.692													A	24622178	G	A	24622178	2	1	364	1	0	0	0	0	0	0	0	1	6418	1048	37	1		1	GGT5	22	24622178	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6110	24622178	26682388	14706	38208											
SNRPD3	6634	broad.mit.edu	37	chr22	24964127	24964127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggccgaggaaaagctgCtattctcaaggcccaaggta	11	7	13	10	1	1	0	1	0	1	0	2	2	1	1	2	5	2	4	2	5	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:24964127C>T	ENST00000215829.3	+	3	889	c.302C>T	c.(301-303)gCt>gTt	p.A101V	SNRPD3_ENST00000402849.1_Missense_Mutation_p.A101V	NM_001278656.1|NM_004175.3	NP_001265585.1|NP_004166.1	P62318	SMD3_HUMAN	small nuclear ribonucleoprotein D3 polypeptide 18kDa	101	Arg/Lys-rich (basic).				histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	enzyme binding|histone pre-mRNA DCP binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6						GGAAAAGCTGCTATTCTCAAG	0.453													T	24964127	C	T	24964127	3	4	364	1	0	0	0	0	1	0	0	0	14960	797	28	2	308	2	SNRPD3	22	24964127	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	341949	24964127	26340439	14707	38209											
PIWIL3	440822	broad.mit.edu	37	chr22	25115768	25115768	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaacgctgtactgtatCtgggctcaagccaatcgtgt	9	13	10	9	2	2	0	1	0	1	0	3	0	2	0	1	1	3	5	1	1	6	3	rs142951647		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25115768C>A	ENST00000332271.5	-	20	2895	c.2479G>T	c.(2479-2481)Gat>Tat	p.D827Y	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.D709Y|PIWIL3_ENST00000527701.1_Missense_Mutation_p.D709Y	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	827	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TGTACTGTATCTGGGCTCAAG	0.358													A	25115768	C	A	25115768	3	1	364	1	0	0	0	0	1	0	0	0	12036	913	32	4	177	4	PIWIL3	22	25115768	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	151641	25115768	26188798	14708	38210											
PIWIL3	440822	broad.mit.edu	37	chr22	25147375	25147375	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgtagtagtctatataGgtgattttgctgccatctga	8	16	10	7	0	2	2	0	2	2	0	2	2	2	2	2	1	3	3	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25147375G>T	ENST00000332271.5	-	9	1484	c.1068C>A	c.(1066-1068)acC>acA	p.T356T	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Silent_p.T247T|PIWIL3_ENST00000527701.1_Silent_p.T247T	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	356	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						AGTCTATATAGGTGATTTTGC	0.313													T	25147375	G	T	25147375	2	4	364	1	0	0	0	0	0	0	0	1	12036	987	35	4		4	PIWIL3	22	25147375	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31607	25147375	26157191	14709	38211											
TMEM211	255349	broad.mit.edu	37	chr22	25334157	25334157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattggaacactgcttctcCttgggcacagccctttgggg	6	11	12	12	0	1	0	0	0	1	0	2	1	1	1	2	4	3	3	2	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25334157C>A	ENST00000407886.1	-	3	338	c.86G>T	c.(85-87)aGg>aTg	p.R29M	TMEM211_ENST00000382744.1_Missense_Mutation_p.R29M|TMEM211_ENST00000423535.1_Missense_Mutation_p.R100M			Q6ICI0	TM211_HUMAN	transmembrane protein 211	100						integral to membrane				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						ACTGCTTCTCCTTGGGCACAG	0.532													A	25334157	C	A	25334157	3	1	364	1	0	0	0	0	1	0	0	0	16235	681	24	4	311	4	TMEM211	22	25334157	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	186782	25334157	25970409	14710	38212											
LRP5L	91355	broad.mit.edu	37	chr22	25750681	25750681	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtggtgctgccaggcGgtccagtagatgaagtcccc	7	9	14	11	1	0	2	0	1	0	1	2	2	2	2	4	3	3	3	4	3	2	1	rs150219610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:25750681G>A	ENST00000444995.3	-	6	1237	c.537C>T	c.(535-537)acC>acT	p.T179T	LRP5L_ENST00000402785.2_Silent_p.T179T|LRP5L_ENST00000402859.2_Silent_p.T179T			A4QPB2	LRP5L_HUMAN	low density lipoprotein receptor-related protein 5-like	179										central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(2)	6						GCTGCCAGGCGGTCCAGTAGA	0.577													A	25750681	G	A	25750681	2	1	364	1	0	0	0	0	0	0	0	1	9031	1103	39	1		1	LRP5L	22	25750681	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416524	25750681	25553885	14711	38213											
ADRBK2	157	broad.mit.edu	37	chr22	26063737	26063737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaatttgtgaaagccttcGaggtgacatttttcaaaaat	15	13	8	5	1	1	3	1	2	0	1	2	4	1	3	1	1	1	0	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26063737G>A	ENST00000324198.6	+	6	665	c.473G>A	c.(472-474)cGa>cAa	p.R158Q		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAAGCCTTCGAGGTGACATT	0.323													A	26063737	G	A	26063737	3	1	364	1	0	0	0	0	1	0	0	0	344	1058	37	1	495	1	ADRBK2	22	26063737	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	313056	26063737	25240829	14712	38214											
ADRBK2	157	broad.mit.edu	37	chr22	26114289	26114289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttctgactcagtggcagCgtcgctatttttacctcttt	6	17	7	11	2	3	1	1	1	2	0	4	1	3	1	1	1	2	2	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26114289C>T	ENST00000324198.6	+	19	1924	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		PH.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCAGTGGCAGCGTCGCTATTT	0.488													T	26114289	C	T	26114289	3	4	364	1	0	0	0	0	1	0	0	0	344	768	27	1	1806	1	ADRBK2	22	26114289	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50552	26114289	25190277	14713	38215											
MYO18B	84700	broad.mit.edu	37	chr22	26165202	26165202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggaggctggccaggaaGccgtgggcaggaagcagagg	11	2	21	7	1	0	1	0	0	0	1	0	5	0	4	2	7	2	3	2	7	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26165202G>A	ENST00000335473.7	+	4	1569	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	MYO18B_ENST00000536101.1_Missense_Mutation_p.S440N|MYO18B_ENST00000407587.2_Missense_Mutation_p.S440N	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	440						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGGCCAGGAAGCCGTGGGCAG	0.632													A	26165202	G	A	26165202	3	1	364	1	0	0	0	0	1	0	0	0	10142	971	34	2	1329	2	MYO18B	22	26165202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50913	26165202	25139364	14714	38216											
MYO18B	84700	broad.mit.edu	37	chr22	26168350	26168350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctggcctctctcatcaGtgtcaacgaatccagtgtcc	8	10	9	14	1	4	0	3	0	1	0	7	2	6	1	4	2	1	0	4	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26168350G>T	ENST00000335473.7	+	7	1992	c.1742G>T	c.(1741-1743)aGt>aTt	p.S581I	MYO18B_ENST00000536101.1_Missense_Mutation_p.S581I|MYO18B_ENST00000407587.2_Missense_Mutation_p.S581I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	581	Myosin head-like.					nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTCATCAGTGTCAACGAA	0.597													T	26168350	G	T	26168350	3	4	364	1	0	0	0	0	1	0	0	0	10142	1029	36	4	1764	4	MYO18B	22	26168350	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3148	26168350	25136216	14715	38217											
MYO18B	84700	broad.mit.edu	37	chr22	26272207	26272207	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtggctgtgttcctcGcagtcaaggactggccatgg	8	10	14	9	1	1	1	1	0	0	1	3	2	2	2	2	4	0	3	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272207G>A	ENST00000335473.7	+	24	4382	c.4132G>A	c.(4132-4134)Gca>Aca	p.A1378T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A1378T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A1379T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1378						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TGTGTTCCTCGCAGTCAAGGA	0.572													A	26272207	G	A	26272207	3	1	364	1	0	0	0	0	1	0	0	0	10142	1087	38	1	4222	1	MYO18B	22	26272207	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	103857	26272207	25032359	14716	38218											
MYO18B	84700	broad.mit.edu	37	chr22	26272246	26272246	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcagctgcttggttccCtccagcctctacttagtgcc	4	12	11	14	0	1	0	0	0	1	0	3	0	3	0	4	3	5	4	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26272246C>A	ENST00000335473.7	+	24	4421	c.4171C>A	c.(4171-4173)Ctc>Atc	p.L1391I	MYO18B_ENST00000536101.1_Missense_Mutation_p.L1391I|MYO18B_ENST00000407587.2_Missense_Mutation_p.L1392I	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1391						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCTTGGTTCCCTCCAGCCTCT	0.592													A	26272246	C	A	26272246	3	1	364	1	0	0	0	0	1	0	0	0	10142	681	24	4	4261	4	MYO18B	22	26272246	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39	26272246	25032320	14717	38219											
MYO18B	84700	broad.mit.edu	37	chr22	26422936	26422936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaatgcatctcttcagaCggtgttgggggcacaaccct	9	10	10	12	1	3	1	2	0	1	1	4	1	3	1	1	3	2	3	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26422936C>T	ENST00000335473.7	+	43	7246	c.6996C>T	c.(6994-6996)gaC>gaT	p.D2332D	MYO18B_ENST00000536101.1_Silent_p.D2332D|MYO18B_ENST00000407587.2_Silent_p.D2333D	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2332						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCTCTTCAGACGGTGTTGGGG	0.552													T	26422936	C	T	26422936	2	4	364	1	0	0	0	0	0	0	0	1	10142	535	19	1		1	MYO18B	22	26422936	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	150690	26422936	24881630	14718	38220											
SEZ6L	23544	broad.mit.edu	37	chr22	26706775	26706775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtccgaccaggcccgggcgGcctccaccttcaacatccga	7	5	10	19	5	1	0	1	0	0	0	4	2	4	0	7	3	1	0	7	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26706775G>A	ENST00000529632.2	+	7	1850	c.1654G>A	c.(1654-1656)Gcc>Acc	p.A552T	SEZ6L_ENST00000403121.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000404234.3_Missense_Mutation_p.A552T|SEZ6L_ENST00000343706.4_Missense_Mutation_p.A552T|SEZ6L_ENST00000402979.1_Missense_Mutation_p.A325T|SEZ6L_ENST00000360929.3_Missense_Mutation_p.A552T|SEZ6L_ENST00000248933.6_Missense_Mutation_p.A552T	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	552	CUB 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						GGCCCGGGCGGCCTCCACCTT	0.607													A	26706775	G	A	26706775	3	1	364	1	0	0	0	0	1	0	0	0	14236	1203	42	2	1680	2	SEZ6L	22	26706775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283839	26706775	24597791	14719	38221											
HPS4	89781	broad.mit.edu	37	chr22	26868841	26868841	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cattgtaaaaattaaagaatCcaactagctgatccagaaac	19	9	5	8	0	0	3	0	1	0	2	2	3	2	3	2	0	3	2	2	0	9	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26868841C>A	ENST00000398145.2	-	5	957	c.341G>T	c.(340-342)gGa>gTa	p.G114V	HPS4_ENST00000336873.5_Missense_Mutation_p.G114V|HPS4_ENST00000402105.3_Missense_Mutation_p.G109V|HPS4_ENST00000398141.1_Missense_Mutation_p.G109V	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	114					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						ATTAAAGAATCCAACTAGCTG	0.458									Hermansky-Pudlak syndrome				A	26868841	C	A	26868841	3	1	364	1	0	0	0	0	1	0	0	0	7396	855	30	4	1825	4	HPS4	22	26868841	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	162066	26868841	24435725	14720	38222											
SRRD	402055	broad.mit.edu	37	chr22	26884027	26884027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gatgtctcacaaaacatctgGaacaactgaaggcccctgtg	13	8	9	11	0	2	1	1	1	2	0	3	3	2	2	2	2	3	0	2	2	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26884027G>A	ENST00000215917.7	+	3	297	c.283G>A	c.(283-285)Gaa>Aaa	p.E95K		NM_001013694.2	NP_001013716.2	Q9UH36	SRR1L_HUMAN	SRR1 domain containing						rhythmic process					endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						AAAACATCTGGAACAACTGAA	0.478													A	26884027	G	A	26884027	3	1	364	1	0	0	0	0	1	0	0	0	15263	1175	41	2	293	2	SRRD	22	26884027	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15186	26884027	24420539	14721	38223											
TFIP11	24144	broad.mit.edu	37	chr22	26890245	26890245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctcctcataatttgggCtgttactgagccaagagcac	10	12	9	10	0	2	3	1	2	1	1	3	3	2	3	2	1	3	3	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26890245C>T	ENST00000407690.1	-	14	2301	c.2018G>A	c.(2017-2019)aGc>aAc	p.S673N	TFIP11_ENST00000407431.1_Missense_Mutation_p.S673N|TFIP11_ENST00000405938.1_Missense_Mutation_p.S673N|TFIP11_ENST00000407148.1_Missense_Mutation_p.S673N|SRRD_ENST00000215917.7_3'UTR	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	673					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						ATAATTTGGGCTGTTACTGAG	0.443													T	26890245	C	T	26890245	3	4	364	1	0	0	0	0	1	0	0	0	15907	797	28	2	503	2	TFIP11	22	26890245	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6218	26890245	24414321	14722	38224											
TFIP11	24144	broad.mit.edu	37	chr22	26892165	26892165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttctgcagggcgctggAcagcttactacggatggggg	7	8	15	11	2	1	0	0	0	1	0	1	2	1	2	1	5	4	3	1	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26892165A>G	ENST00000407690.1	-	12	2006	c.1723T>C	c.(1723-1725)Tcc>Ccc	p.S575P	TFIP11_ENST00000407431.1_Missense_Mutation_p.S575P|TFIP11_ENST00000405938.1_Missense_Mutation_p.S575P|TFIP11_ENST00000407148.1_Missense_Mutation_p.S575P	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	575					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						AGGGCGCTGGACAGCTTACTA	0.592													G	26892165	A	G	26892165	3	3	364	1	0	0	0	0	1	0	0	0	15907	275	10	3	806	3	TFIP11	22	26892165	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1920	26892165	24412401	14723	38225											
TFIP11	24144	broad.mit.edu	37	chr22	26895172	26895172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtactcctcatagtacttGtcctgcagggtttcgaagat	8	14	9	10	1	1	1	1	0	0	1	4	2	3	1	2	1	3	4	2	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:26895172G>A	ENST00000407690.1	-	9	1510	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	TFIP11_ENST00000407431.1_Silent_p.D409D|TFIP11_ENST00000405938.1_Silent_p.D409D|TFIP11_ENST00000407148.1_Silent_p.D409D	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	409					biomineral tissue development	catalytic step 2 spliceosome|cytoplasm|nuclear speck	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						CATAGTACTTGTCCTGCAGGG	0.587													A	26895172	G	A	26895172	2	1	364	1	0	0	0	0	0	0	0	1	15907	1368	48	2		2	TFIP11	22	26895172	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3007	26895172	24409394	14724	38226											
CRYBA4	1413	broad.mit.edu	37	chr22	27021500	27021500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagtacattctggaacgaGgcgaatatccaagctgggat	13	8	12	8	2	1	0	0	0	1	0	2	4	2	2	1	3	4	3	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:27021500G>T	ENST00000354760.3	+	4	249	c.214G>T	c.(214-216)Ggc>Tgc	p.G72C	CRYBA4_ENST00000466315.1_3'UTR	NM_001886.2	NP_001877.1	P53673	CRBA4_HUMAN	crystallin, beta A4	72	Beta/gamma crystallin 'Greek key' 2.				camera-type eye development|visual perception	soluble fraction	structural constituent of eye lens			large_intestine(6)|liver(1)|lung(6)|skin(3)|urinary_tract(2)	18						TCTGGAACGAGGCGAATATCC	0.617													T	27021500	G	T	27021500	3	4	364	1	0	0	0	0	1	0	0	0	3940	1000	35	4	224	4	CRYBA4	22	27021500	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	126328	27021500	24283066	14725	38227											
MN1	4330	broad.mit.edu	37	chr22	28192905	28192905	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtcaatggtgctcatggcGctcttgaccgcctcggagca	7	9	13	12	3	3	1	2	1	1	0	4	2	3	2	2	4	2	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28192905G>A	ENST00000302326.4	-	1	4581	c.3627C>T	c.(3625-3627)agC>agT	p.S1209S		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1209							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						TGCTCATGGCGCTCTTGACCG	0.667			T	ETV6	"AML, meningioma"								A	28192905	G	A	28192905	2	1	364	1	0	0	0	0	0	0	0	1	9749	1078	38	1		1	MN1	22	28192905	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1171405	28192905	23111661	14726	38228											
MN1	4330	broad.mit.edu	37	chr22	28193520	28193520	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaggatggcgacgtgagCgccttttcgtggggcgtcgg	4	8	17	12	6	0	1	0	1	0	0	2	3	0	2	3	5	1	0	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193520C>T	ENST00000302326.4	-	1	3966	c.3012G>A	c.(3010-3012)gcG>gcA	p.A1004A		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	1004							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCGACGTGAGCGCCTTTTCGT	0.701			T	ETV6	"AML, meningioma"								T	28193520	C	T	28193520	2	4	364	1	0	0	0	0	0	0	0	1	9749	755	27	1		1	MN1	22	28193520	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	615	28193520	23111046	14727	38229											
MN1	4330	broad.mit.edu	37	chr22	28193733	28193733	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcccccggagaccggCttgccgtcattccccgacgt	4	6	11	20	7	1	1	1	0	0	1	2	3	2	1	8	2	1	1	8	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193733C>T	ENST00000302326.4	-	1	3753	c.2799G>A	c.(2797-2799)aaG>aaA	p.K933K		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	933							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						CGGAGACCGGCTTGCCGTCAT	0.687			T	ETV6	"AML, meningioma"								T	28193733	C	T	28193733	2	4	364	1	0	0	0	0	0	0	0	1	9749	796	28	2		2	MN1	22	28193733	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	213	28193733	23110833	14728	38230											
MN1	4330	broad.mit.edu	37	chr22	28193974	28193974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttcctcttgccctctggcGggttcttcttgttgaaggtc	2	17	11	11	1	4	1	0	1	4	0	6	1	5	1	2	3	1	3	2	3	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28193974G>A	ENST00000302326.4	-	1	3512	c.2558C>T	c.(2557-2559)cCg>cTg	p.P853L		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	853							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GCCCTCTGGCGGGTTCTTCTT	0.647			T	ETV6	"AML, meningioma"								A	28193974	G	A	28193974	3	1	364	1	0	0	0	0	1	0	0	0	9749	1116	39	1	1412	1	MN1	22	28193974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241	28193974	23110592	14729	38231											
PITPNB	23760	broad.mit.edu	37	chr22	28306976	28306976	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaggtgataaattttgtgcGtatactgtcccttttctcca	8	18	7	8	1	1	1	0	1	1	0	3	1	2	1	2	1	2	1	2	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:28306976G>A	ENST00000335272.5	-	3	249	c.173C>T	c.(172-174)aCg>aTg	p.T58M	PITPNB_ENST00000455418.3_Missense_Mutation_p.T60M|PITPNB_ENST00000320996.10_Missense_Mutation_p.T58M	NM_012399.3	NP_036531.1	P48739	PIPNB_HUMAN	phosphatidylinositol transfer protein, beta	58					lipid metabolic process|transport	Golgi apparatus	lipid binding			large_intestine(4)|lung(3)|skin(1)	8						AATTTTGTGCGTATACTGTCC	0.398													A	28306976	G	A	28306976	3	1	364	1	0	0	0	0	1	0	0	0	12025	1145	40	1	678	1	PITPNB	22	28306976	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113002	28306976	22997590	14730	38232											
CHEK2	11200	broad.mit.edu	37	chr22	29121015	29121015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaattgttattcaaaggaCggcgttttcctttccctaca	10	14	7	10	2	1	1	1	0	0	1	3	2	3	2	2	2	1	2	2	2	4	7	rs121908701		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121015C>T	ENST00000382580.2	-	5	746	c.671G>A	c.(670-672)cGt>cAt	p.R224H	CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.R181H|CHEK2_ENST00000402731.1_Missense_Mutation_p.R181H|CHEK2_ENST00000404276.1_Missense_Mutation_p.R181H|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.R181H|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.R181H|CHEK2_ENST00000348295.3_Missense_Mutation_p.R181H	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	181	Protein kinase.				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			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						ATTCAAAGGACGGCGTTTTCC	0.353			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					T	29121015	C	T	29121015	3	4	364	1	0	0	0	0	1	0	0	0	3365	536	19	1	1137	1	CHEK2	22	29121015	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	814039	29121015	22183551	14731	38233											
CHEK2	11200	broad.mit.edu	37	chr22	29121084	29121084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgatcttctatgtatGcaatgtaagagtttttagga	11	16	9	5	0	2	2	0	1	2	1	2	3	2	3	0	1	1	4	0	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29121084G>A	ENST00000382580.2	-	5	677	c.602C>T	c.(601-603)gCa>gTa	p.A201V	CHEK2_ENST00000382578.1_Intron|CHEK2_ENST00000382566.1_Missense_Mutation_p.A158V|CHEK2_ENST00000402731.1_Missense_Mutation_p.A158V|CHEK2_ENST00000404276.1_Missense_Mutation_p.A158V|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Intron|CHEK2_ENST00000405598.1_Missense_Mutation_p.A158V|CHEK2_ENST00000544772.1_5'UTR|CHEK2_ENST00000328354.6_Missense_Mutation_p.A158V|CHEK2_ENST00000348295.3_Missense_Mutation_p.A158V	NM_001005735.1	NP_001005735.1	O96017	CHK2_HUMAN	checkpoint kinase 2	158					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			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TTCTATGTATGCAATGTAAGA	0.348			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					A	29121084	G	A	29121084	3	1	364	1	0	0	0	0	1	0	0	0	3365	1319	46	2	1206	2	CHEK2	22	29121084	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	29121084	22183482	14732	38234											
ZNRF3	84133	broad.mit.edu	37	chr22	29446342	29446342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccccagccgggcctagcGccggagcagctggcagcagc	6	3	14	18	3	0	0	0	0	0	0	1	1	1	1	6	3	6	4	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446342G>A	ENST00000544604.2	+	8	2348	c.2173G>A	c.(2173-2175)Gcc>Acc	p.A725T	ZNRF3_ENST00000406323.3_Missense_Mutation_p.A625T|ZNRF3_ENST00000402174.1_Missense_Mutation_p.A625T|ZNRF3_ENST00000332811.4_Missense_Mutation_p.A625T	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	725						integral to membrane	zinc ion binding	p.A625P(1)		NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						CGGGCCTAGCGCCGGAGCAGC	0.726													A	29446342	G	A	29446342	3	1	364	1	0	0	0	0	1	0	0	0	18312	1087	38	1	1899	1	ZNRF3	22	29446342	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	325258	29446342	21858224	14733	38235											
ZNRF3	84133	broad.mit.edu	37	chr22	29446491	29446491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggacagatggggtgaaataCgagggtctgccctgctgctt	9	9	15	8	1	1	2	0	1	1	1	1	4	1	3	1	4	4	2	1	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29446491C>T	ENST00000544604.2	+	8	2497	c.2322C>T	c.(2320-2322)taC>taT	p.Y774Y	ZNRF3_ENST00000406323.3_Silent_p.Y674Y|ZNRF3_ENST00000402174.1_Silent_p.Y674Y|ZNRF3_ENST00000332811.4_Silent_p.Y674Y	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	774						integral to membrane	zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GGGTGAAATACGAGGGTCTGC	0.652													T	29446491	C	T	29446491	2	4	364	1	0	0	0	0	0	0	0	1	18312	547	19	1		1	ZNRF3	22	29446491	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	149	29446491	21858075	14734	38236											
KREMEN1	83999	broad.mit.edu	37	chr22	29533483	29533483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagcttccccctatttgAcatcagggactcggcggaca	8	10	9	14	2	2	1	2	1	0	0	4	3	3	3	2	3	1	1	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29533483A>G	ENST00000400338.2	+	6	838	c.785A>G	c.(784-786)gAc>gGc	p.D262G	KREMEN1_ENST00000400335.4_Missense_Mutation_p.D262G|KREMEN1_ENST00000407188.1_Missense_Mutation_p.D260G|KREMEN1_ENST00000327813.5_Missense_Mutation_p.D262G			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	260	CUB.				cell communication|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane|membrane fraction	protein binding			breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						CCCCTATTTGACATCAGGGAC	0.632													G	29533483	A	G	29533483	3	3	364	1	0	0	0	0	1	0	0	0	8500	275	10	3	807	3	KREMEN1	22	29533483	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	86992	29533483	21771083	14735	38237											
GAS2L1	10634	broad.mit.edu	37	chr22	29704282	29704282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccacgggcacgaccctgTgccaacatgccaacgccgtg	8	5	12	16	4	0	0	0	0	0	0	0	1	0	0	5	2	4	1	5	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29704282T>C	ENST00000471961.1	+	1	1235	c.187T>C	c.(187-189)Tgc>Cgc	p.C63R	GAS2L1_ENST00000407647.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000341313.6_Missense_Mutation_p.C63R|GAS2L1_ENST00000360113.2_Missense_Mutation_p.C63R|GAS2L1_ENST00000406549.3_Missense_Mutation_p.C63R|GAS2L1_ENST00000403764.1_Missense_Mutation_p.C63R|GAS2L1_ENST00000407854.1_Missense_Mutation_p.C63R			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	63	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CACGACCCTGTGCCAACATGC	0.692													C	29704282	T	C	29704282	3	2	364	1	0	0	0	0	1	0	0	0	6300	1696	59	3	189	3	GAS2L1	22	29704282	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	170799	29704282	21600284	14736	38238											
AP1B1	162	broad.mit.edu	37	chr22	29724848	29724848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgtaggcctggtacacgtGctgggacacctctggtgctc	5	10	13	13	2	1	0	0	0	1	0	3	1	1	1	2	4	3	4	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29724848G>A	ENST00000357586.2	-	23	2998	c.2812C>T	c.(2812-2814)Cac>Tac	p.H938Y	AP1B1_ENST00000405198.1_Missense_Mutation_p.H938Y|AP1B1_ENST00000402502.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000415447.1_Missense_Mutation_p.H928Y|AP1B1_ENST00000432560.2_Missense_Mutation_p.H928Y|AP1B1_ENST00000356015.2_Missense_Mutation_p.H931Y|AP1B1_ENST00000317368.7_Missense_Mutation_p.H908Y	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	938					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						TGGTACACGTGCTGGGACACC	0.657													A	29724848	G	A	29724848	3	1	364	1	0	0	0	0	1	0	0	0	733	1319	46	2	41	2	AP1B1	22	29724848	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20566	29724848	21579718	14737	38239											
AP1B1	162	broad.mit.edu	37	chr22	29755866	29755866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaggctgactcttggcgtAattcatcaagtagaggtata	11	12	11	7	1	4	2	3	1	1	1	4	2	4	2	0	3	0	4	0	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29755866A>G	ENST00000357586.2	-	4	412	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	AP1B1_ENST00000317368.7_Missense_Mutation_p.Y76H|AP1B1_ENST00000356015.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000405198.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000415447.1_Missense_Mutation_p.Y76H|AP1B1_ENST00000432560.2_Missense_Mutation_p.Y76H|AP1B1_ENST00000402502.1_Missense_Mutation_p.Y76H	NM_001127.3	NP_001118	Q10567	AP1B1_HUMAN	adaptor-related protein complex 1, beta 1 subunit	76					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding|protein transporter activity			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						CTCTTGGCGTAATTCATCAAG	0.527											OREG0026449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	29755866	A	G	29755866	3	3	364	1	0	0	0	0	1	0	0	0	733	362	13	3	2703	3	AP1B1	22	29755866	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31018	29755866	21548700	14738	38240											
THOC5	8563	broad.mit.edu	37	chr22	29904471	29904471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggctgaagaatccctgaGgatggttgtatttaaatggc	11	12	13	5	0	0	3	0	2	0	1	1	5	1	4	1	4	0	3	1	4	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:29904471G>A	ENST00000490103.1	-	20	2149	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	THOC5_ENST00000397873.2_Missense_Mutation_p.P676L|THOC5_ENST00000397871.1_Missense_Mutation_p.P676L|THOC5_ENST00000397872.1_Missense_Mutation_p.P676L	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	676					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GAATCCCTGAGGATGGTTGTA	0.488													A	29904471	G	A	29904471	3	1	364	1	0	0	0	0	1	0	0	0	15968	1000	35	2	28	2	THOC5	22	29904471	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	148605	29904471	21400095	14739	38241											
MTMR3	8897	broad.mit.edu	37	chr22	30416049	30416049	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtttcgaatagaagagAttgcagagggtagggaggaa	15	7	16	3	1	0	3	0	0	0	3	1	7	0	5	0	3	2	4	0	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416049A>C	ENST00000333027.3	+	17	2729	c.2401A>C	c.(2401-2403)Att>Ctt	p.I801L	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.I801L|MTMR3_ENST00000406629.1_Missense_Mutation_p.I801L|MTMR3_ENST00000351488.3_Missense_Mutation_p.I801L|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.I665L	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	801					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			AATAGAAGAGATTGCAGAGGG	0.537													C	30416049	A	C	30416049	3	2	364	1	0	0	0	0	1	0	0	0	10021	333	12	5	2459	5	MTMR3	22	30416049	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	511578	30416049	20888517	14740	38242											
MTMR3	8897	broad.mit.edu	37	chr22	30416681	30416681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagccccgaccagccttcCcgcagccacctggacgatga	9	4	10	18	3	0	1	0	1	0	0	1	4	1	2	7	1	4	2	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416681C>T	ENST00000333027.3	+	17	3361	c.3033C>T	c.(3031-3033)tcC>tcT	p.S1011S	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.S1011S|MTMR3_ENST00000406629.1_Silent_p.S1011S|MTMR3_ENST00000351488.3_Silent_p.S1011S|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Silent_p.S875S	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1011					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACCAGCCTTCCCGCAGCCACC	0.572													T	30416681	C	T	30416681	2	4	364	1	0	0	0	0	0	0	0	1	10021	610	22	2		2	MTMR3	22	30416681	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	632	30416681	20887885	14741	38243											
MTMR3	8897	broad.mit.edu	37	chr22	30416742	30416742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgatccaacagcgcctgCgtcagattgagtcaggccac	11	6	10	14	3	2	2	2	1	0	1	3	3	3	2	3	1	3	0	3	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30416742C>T	ENST00000333027.3	+	17	3422	c.3094C>T	c.(3094-3096)Cgt>Tgt	p.R1032C	CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Missense_Mutation_p.R1032C|MTMR3_ENST00000406629.1_Missense_Mutation_p.R1032C|MTMR3_ENST00000351488.3_Missense_Mutation_p.R1032C|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.R896C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1032					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ACAGCGCCTGCGTCAGATTGA	0.572													T	30416742	C	T	30416742	3	4	364	1	0	0	0	0	1	0	0	0	10021	768	27	1	3152	1	MTMR3	22	30416742	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	61	30416742	20887824	14742	38244											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688802	30688802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagctgaatgaggtgttcGcgctcaatctggcgctctgt	6	11	13	11	4	3	2	1	2	2	0	4	2	3	2	0	2	1	5	0	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30688802G>A	ENST00000215790.7	-	9	1253	c.1089C>T	c.(1087-1089)cgC>cgT	p.R363R	TBC1D10A_ENST00000403362.1_Silent_p.R275R|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Silent_p.R370R	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						TGAGGTGTTCGCGCTCAATCT	0.637													A	30688802	G	A	30688802	2	1	364	1	0	0	0	0	0	0	0	1	15695	1074	38	1		1	TBC1D10A	22	30688802	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	272060	30688802	20615764	14743	38245											
CCDC157	550631	broad.mit.edu	37	chr22	30766567	30766567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgccctgtgacgcatgcGccagcgtccagggaagcctg	6	7	15	13	3	0	1	0	1	0	0	1	2	1	2	4	2	4	1	4	2	1	0	rs140264936	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30766567G>A	ENST00000405659.1	+	5	1382	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	CCDC157_ENST00000338306.3_Missense_Mutation_p.A225T			Q569K6	CC157_HUMAN	coiled-coil domain containing 157	225										central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(1)	15						TGACGCATGCGCCAGCGTCCA	0.612													A	30766567	G	A	30766567	3	1	364	1	0	0	0	0	1	0	0	0	2816	1087	38	1	683	1	CCDC157	22	30766567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77765	30766567	20537999	14744	38246											
GAL3ST1	9514	broad.mit.edu	37	chr22	30951066	30951066	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgcgcgtgccgctgcccGatgctcttcttgaggttgta	4	12	13	12	4	2	1	0	1	2	0	2	2	2	1	2	1	5	5	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:30951066G>A	ENST00000402321.1	-	3	1463	c.1146C>T	c.(1144-1146)atC>atT	p.I382I	GAL3ST1_ENST00000338911.5_Silent_p.I382I|GAL3ST1_ENST00000406361.1_Silent_p.I382I|GAL3ST1_ENST00000406955.1_Silent_p.I382I|GAL3ST1_ENST00000402369.1_Silent_p.I382I|GAL3ST1_ENST00000401975.1_Silent_p.I382I|GAL3ST1_ENST00000443111.2_Silent_p.I382I			Q99999	G3ST1_HUMAN	galactose-3-O-sulfotransferase 1	382					protein N-linked glycosylation	Golgi membrane|integral to plasma membrane|membrane fraction	galactosylceramide sulfotransferase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	21						GCCGCTGCCCGATGCTCTTCT	0.672													A	30951066	G	A	30951066	2	1	364	1	0	0	0	0	0	0	0	1	6251	1048	37	1		1	GAL3ST1	22	30951066	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	184499	30951066	20353500	14745	38247											
OSBP2	23762	broad.mit.edu	37	chr22	31286763	31286763	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcggctgacagaggacCtggagtaccaccacctgctg	9	6	12	14	1	0	2	0	1	0	1	1	4	1	4	5	3	3	3	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286763C>A	ENST00000332585.6	+	8	1776	c.1672C>A	c.(1672-1674)Ctg>Atg	p.L558M	OSBP2_ENST00000535268.1_Missense_Mutation_p.L102M|OSBP2_ENST00000407373.1_Missense_Mutation_p.L385M|OSBP2_ENST00000437268.2_Missense_Mutation_p.L300M|OSBP2_ENST00000382310.3_Missense_Mutation_p.L509M|OSBP2_ENST00000403222.3_Missense_Mutation_p.L392M|OSBP2_ENST00000446658.2_Missense_Mutation_p.L557M|OSBP2_ENST00000401475.1_Missense_Mutation_p.L191M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	558					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GACAGAGGACCTGGAGTACCA	0.627											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	31286763	C	A	31286763	3	1	364	1	0	0	0	0	1	0	0	0	11350	680	24	4	1702	4	OSBP2	22	31286763	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	335697	31286763	20017803	14746	38248											
OSBP2	23762	broad.mit.edu	37	chr22	31286930	31286930	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgagctggaccgcctcgaCgacatgggcctgcgctccct	5	8	12	16	5	0	0	0	0	0	0	3	4	1	1	4	2	2	2	4	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31286930C>T	ENST00000332585.6	+	8	1943	c.1839C>T	c.(1837-1839)gaC>gaT	p.D613D	OSBP2_ENST00000535268.1_Silent_p.D157D|OSBP2_ENST00000407373.1_Silent_p.D440D|OSBP2_ENST00000437268.2_Silent_p.D355D|OSBP2_ENST00000382310.3_Silent_p.D564D|OSBP2_ENST00000403222.3_Silent_p.D447D|OSBP2_ENST00000446658.2_Silent_p.D612D|OSBP2_ENST00000401475.1_Silent_p.D246D	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	613					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ACCGCCTCGACGACATGGGCC	0.662											OREG0026467	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	31286930	C	T	31286930	2	4	364	1	0	0	0	0	0	0	0	1	11350	535	19	1		1	OSBP2	22	31286930	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	167	31286930	20017636	14747	38249											
OSBP2	23762	broad.mit.edu	37	chr22	31289153	31289153	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcactacgtgttctccaaGcatggctggagcctctggca	7	9	12	13	2	2	0	0	0	2	0	3	1	2	1	2	3	3	5	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31289153G>A	ENST00000332585.6	+	9	2018	c.1914G>A	c.(1912-1914)aaG>aaA	p.K638K	OSBP2_ENST00000535268.1_Silent_p.K182K|OSBP2_ENST00000407373.1_Silent_p.K465K|OSBP2_ENST00000437268.2_Silent_p.K380K|OSBP2_ENST00000382310.3_Silent_p.K589K|OSBP2_ENST00000403222.3_Silent_p.K472K|OSBP2_ENST00000446658.2_Silent_p.K637K|OSBP2_ENST00000401475.1_Silent_p.K271K|OSBP2_ENST00000496575.1_Intron	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	638					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						TGTTCTCCAAGCATGGCTGGA	0.597													A	31289153	G	A	31289153	2	1	364	1	0	0	0	0	0	0	0	1	11350	962	34	2		2	OSBP2	22	31289153	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2223	31289153	20015413	14748	38250											
OSBP2	23762	broad.mit.edu	37	chr22	31302206	31302206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggcggatgcctacacGccactgtggtttgagaagag	11	7	15	8	2	0	2	0	1	0	2	0	5	0	4	2	4	2	1	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31302206G>A	ENST00000382310.3	+	12	2647	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T	OSBP2_ENST00000535268.1_Silent_p.T421T|OSBP2_ENST00000407373.1_Silent_p.T704T|OSBP2_ENST00000437268.2_Silent_p.T620T|OSBP2_ENST00000403222.3_Silent_p.T711T|OSBP2_ENST00000446658.2_Silent_p.T876T|OSBP2_ENST00000401475.1_Silent_p.T510T|OSBP2_ENST00000332585.6_Silent_p.T877T			Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	0					lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						ATGCCTACACGCCACTGTGGT	0.647													A	31302206	G	A	31302206	3	1	364	1	0	0	0	0	1	0	0	0	11350	1074	38	1	2685	1	OSBP2	22	31302206	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13053	31302206	20002360	14749	38251											
MORC2	22880	broad.mit.edu	37	chr22	31324094	31324094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcttcctctcggaggtgCgcaggctttcctcggaggcc	4	9	15	13	3	1	0	0	0	1	0	5	3	3	3	3	6	2	3	3	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31324094C>T	ENST00000397641.3	-	25	3350	c.2942G>A	c.(2941-2943)cGc>cAc	p.R981H	MORC2-AS1_ENST00000441558.1_RNA|MORC2_ENST00000215862.4_Missense_Mutation_p.R919H			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTCGGAGGTGCGCAGGCTTTC	0.587													T	31324094	C	T	31324094	3	4	364	1	0	0	0	0	1	0	0	0	9778	768	27	1	164	1	MORC2	22	31324094	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21888	31324094	19980472	14750	38252											
MORC2	22880	broad.mit.edu	37	chr22	31338136	31338136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcataaactgggtcatcacTtcctcctcagtgcggaatgg	9	12	9	11	1	4	0	4	0	0	0	6	1	6	1	2	3	2	0	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31338136T>G	ENST00000397641.3	-	7	957	c.549A>C	c.(547-549)gaA>gaC	p.E183D	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.E121D			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						GGGTCATCACTTCCTCCTCAG	0.493													G	31338136	T	G	31338136	3	3	364	1	0	0	0	0	1	0	0	0	9778	1606	56	5	2629	5	MORC2	22	31338136	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	14042	31338136	19966430	14751	38253											
SMTN	6525	broad.mit.edu	37	chr22	31485987	31485987	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacgctccccagcactgaGggccaggtggtcaacaaggt	10	5	12	14	1	1	1	1	1	0	0	2	1	2	1	4	4	3	2	4	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31485987G>T	ENST00000333137.7	+	7	992	c.774G>T	c.(772-774)gaG>gaT	p.E258D	SMTN_ENST00000358743.1_Missense_Mutation_p.E258D|SMTN_ENST00000347557.2_Missense_Mutation_p.E258D	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	258	Pro-rich.				muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAGCACTGAGGGCCAGGTGG	0.642													T	31485987	G	T	31485987	3	4	364	1	0	0	0	0	1	0	0	0	14908	991	35	4	796	4	SMTN	22	31485987	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147851	31485987	19818579	14752	38254											
PLA2G3	50487	broad.mit.edu	37	chr22	31531876	31531876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcctctgctgaagcctccGcaagtgccgggctgacaccc	6	7	11	17	3	1	2	0	2	1	0	3	2	2	2	5	1	3	3	5	1	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31531876G>A	ENST00000215885.3	-	7	1615	c.1363C>T	c.(1363-1365)Cgg>Tgg	p.R455W		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	455					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						TGAAGCCTCCGCAAGTGCCGG	0.582													A	31531876	G	A	31531876	3	1	364	1	0	0	0	0	1	0	0	0	12077	1086	38	1	170	1	PLA2G3	22	31531876	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45889	31531876	19772690	14753	38255											
PLA2G3	50487	broad.mit.edu	37	chr22	31533810	31533810	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttgctggggcgcttggAccctttctgatgtggtggcc	2	13	16	10	1	1	1	0	1	1	0	1	2	1	2	2	6	1	3	2	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31533810A>T	ENST00000215885.3	-	4	1204	c.952T>A	c.(952-954)Tcc>Acc	p.S318T		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	318					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GGGCGCTTGGACCCTTTCTGA	0.672													T	31533810	A	T	31533810	3	4	364	1	0	0	0	0	1	0	0	0	12077	275	10	5	593	5	PLA2G3	22	31533810	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1934	31533810	19770756	14754	38256											
RNF185	91445	broad.mit.edu	37	chr22	31583084	31583084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcgctgacagccaaggatgGcaagcaaggggccctcggcc	9	5	14	13	2	0	1	0	1	0	0	2	2	0	2	3	5	2	3	3	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31583084G>A	ENST00000326132.6	+	2	163	c.4G>A	c.(4-6)Gca>Aca	p.A2T	RNF185_ENST00000266252.7_Missense_Mutation_p.A2T|RNF185_ENST00000426256.2_5'UTR	NM_152267.3	NP_689480.2	Q96GF1	RN185_HUMAN	ring finger protein 185							integral to membrane	zinc ion binding			NS(1)|large_intestine(1)|lung(3)|skin(1)	6						GCCAAGGATGGCAAGCAAGGG	0.607													A	31583084	G	A	31583084	3	1	364	1	0	0	0	0	1	0	0	0	13559	1203	42	2	6	2	RNF185	22	31583084	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	49274	31583084	19721482	14755	38257											
LIMK2	3985	broad.mit.edu	37	chr22	31654373	31654373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggggaagtttggggagttCtgtcatgggtgctccctgct	4	13	17	7	0	2	0	1	0	1	0	3	2	3	2	1	5	2	4	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31654373C>T	ENST00000331728.4	+	3	327	c.213C>T	c.(211-213)ttC>ttT	p.F71F	LIMK2_ENST00000406516.1_5'UTR|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000333611.4_Silent_p.F50F|LIMK2_ENST00000340552.4_Silent_p.F50F	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	71						mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TTGGGGAGTTCTGTCATGGGT	0.517													T	31654373	C	T	31654373	2	4	364	1	0	0	0	0	0	0	0	1	8862	912	32	2		2	LIMK2	22	31654373	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71289	31654373	19650193	14756	38258											
DRG1	4733	broad.mit.edu	37	chr22	31796681	31796681	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcgtcttgctaagcttcgtCgagaactcattactccaaag	10	12	7	12	3	2	1	1	0	1	1	6	2	3	1	1	0	4	2	1	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31796681C>T	ENST00000331457.4	+	2	279	c.118C>T	c.(118-120)Cga>Tga	p.R40*	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	40					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						TAAGCTTCGTCGAGAACTCAT	0.433													T	31796681	C	T	31796681	4	4	364	1	0	0	0	0	0	1	0	0	4800	876	31	1	124	1	DRG1	22	31796681	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	142308	31796681	19507885	14757	38259											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31858998	31858998	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttatcatcaaagccaGtcagttcgatggtttcagac	11	13	8	9	1	5	1	4	0	1	1	6	2	5	1	1	1	1	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31858998G>T	ENST00000397525.1	-	6	930	c.707C>A	c.(706-708)aCt>aAt	p.T236N	RP11-247I13.8_ENST00000439588.1_RNA|RP11-247I13.11_ENST00000483736.1_RNA|EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.T236N|RP11-247I13.11_ENST00000464523.1_RNA|EIF4ENIF1_ENST00000344710.5_Intron|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.T236N	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	236						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						ATCAAAGCCAGTCAGTTCGAT	0.453													T	31858998	G	T	31858998	3	4	364	1	0	0	0	0	1	0	0	0	5076	1029	36	4	2309	4	EIF4ENIF1	22	31858998	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62317	31858998	19445568	14758	38260											
SFI1	9814	broad.mit.edu	37	chr22	31976257	31976257	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgtcctttctttgcacaGtatttttgctttagagccct	5	20	7	9	0	1	1	0	0	1	1	2	1	2	1	2	0	3	3	2	0	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:31976257G>A	ENST00000443326.1	+	10	1302		c.e10-1		SFI1_ENST00000400288.2_Splice_Site|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000540643.1_Intron|SFI1_ENST00000400289.1_Splice_Site|SFI1_ENST00000414585.1_Splice_Site|SFI1_ENST00000443011.1_Splice_Site	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)						G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						TCTTTGCACAGTATTTTTGCT	0.468													A	31976257	G	A	31976257	5	1	364	1	0	0	0	0	0	0	1	0	14249	1043	36	2	1197	2	SFI1	22	31976257	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	117259	31976257	19328309	14759	38261											
PISD	23761	broad.mit.edu	37	chr22	32016586	32016586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacgttggtggcccccacagCtgtcagtgagaagaagccat	10	7	12	12	1	1	2	1	1	0	2	1	3	1	2	3	2	2	2	3	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32016586C>T	ENST00000382151.2	-	7	1275	c.856G>A	c.(856-858)Gct>Act	p.A286T	PISD_ENST00000397500.1_Intron|PISD_ENST00000439502.2_Missense_Mutation_p.A320T|PISD_ENST00000478893.1_5'UTR|PISD_ENST00000266095.5_Missense_Mutation_p.A286T|PISD_ENST00000336566.4_Missense_Mutation_p.A319T			Q9UG56	PISD_HUMAN	phosphatidylserine decarboxylase	320					phospholipid biosynthetic process	mitochondrion	phosphatidylserine decarboxylase activity			central_nervous_system(3)|endometrium(2)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)	12					Phosphatidylserine(DB00144)	GCCCCCACAGCTGTCAGTGAG	0.582													T	32016586	C	T	32016586	3	4	364	1	0	0	0	0	1	0	0	0	12023	797	28	2	279	2	PISD	22	32016586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40329	32016586	19287980	14760	38262											
DEPDC5	9681	broad.mit.edu	37	chr22	32242867	32242867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgactgggcccatttccacGcattctctggagtcaactgc	8	11	9	13	1	2	1	1	1	1	0	4	2	3	2	2	2	2	1	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32242867G>A	ENST00000400246.1	+	31	3211	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	DEPDC5_ENST00000382105.2_Silent_p.T945T|DEPDC5_ENST00000400249.2_Silent_p.T1014T|DEPDC5_ENST00000266091.3_Silent_p.T1023T|DEPDC5_ENST00000382112.3_Silent_p.T1014T|DEPDC5_ENST00000400248.2_Silent_p.T1014T|DEPDC5_ENST00000535622.1_Silent_p.T945T|DEPDC5_ENST00000382111.2_Silent_p.T1023T			O75140	DEPD5_HUMAN	DEP domain containing 5	1014					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCATTTCCACGCATTCTCTGG	0.552													A	32242867	G	A	32242867	2	1	364	1	0	0	0	0	0	0	0	1	4481	1074	38	1		1	DEPDC5	22	32242867	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	226281	32242867	19061699	14761	38263											
SLC5A1	6523	broad.mit.edu	37	chr22	32482206	32482207	+	Splice_Site	INS	-	-	A																															ggctctccatctcttcccagINSaaaaaattgcctgtgtcgtc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32482206_32482207insA	ENST00000266088.4	+	10	1271_1272		c.e10-1		SLC5A1_ENST00000543737.1_Splice_Site	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1						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						TCTCTTCCCAGAAAAAATTGCC	0.446													A	32482207	-	A	32482206	8	5	364	1	0	1	1	0	0	0	1	0	14755	956	33	0	1059	0	SLC5A1	22	32482206	Splice_Site	INS	-	TCGA-DU-6392-01A-11D-1705-08	239339	32482206	18822360	14762	38264											
RFPL3	10738	broad.mit.edu	37	chr22	32754246	32754246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaccgtctgcctcaagtGcatcaattcgctgcagaagg	10	9	10	12	2	3	1	2	0	1	1	4	1	3	1	2	1	4	4	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32754246G>A	ENST00000249007.4	+	1	393	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	RFPL3_ENST00000382088.3_Missense_Mutation_p.C34Y|RFPL3_ENST00000397468.1_Missense_Mutation_p.C34Y	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3	63							zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						TGCCTCAAGTGCATCAATTCG	0.532													A	32754246	G	A	32754246	3	1	364	1	0	0	0	0	1	0	0	0	13343	1319	46	2	190	2	RFPL3	22	32754246	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	272040	32754246	18550320	14763	38265											
FBXO7	25793	broad.mit.edu	37	chr22	32875191	32875191	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaatcagactagcatgCaggatgaacaaccaagtgat	15	7	9	10	0	1	3	1	2	0	1	2	4	2	4	2	1	4	3	2	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:32875191C>T	ENST00000266087.7	+	2	673	c.346C>T	c.(346-348)Cag>Tag	p.Q116*	FBXO7_ENST00000465418.1_3'UTR|FBXO7_ENST00000397426.1_Nonsense_Mutation_p.Q2*|FBXO7_ENST00000382058.3_Nonsense_Mutation_p.Q37*	NM_012179.3	NP_036311.3	Q9Y3I1	FBX7_HUMAN	F-box protein 7	116					cell death|regulation of protein stability|ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GACTAGCATGCAGGATGAACA	0.448													T	32875191	C	T	32875191	4	4	364	1	0	0	0	0	0	1	0	0	5809	711	25	2	393	2	FBXO7	22	32875191	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	120945	32875191	18429375	14764	38266											
TIMP3	7078	broad.mit.edu	37	chr22	33255339	33255339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgggcccccccggataaaaGcatcatcaatgccacagacc	13	5	8	15	1	2	1	2	0	0	1	2	2	2	2	5	2	2	1	5	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33255339G>A	ENST00000266085.6	+	5	912	c.611G>A	c.(610-612)aGc>aAc	p.S204N	SYN3_ENST00000358763.2_Intron|SYN3_ENST00000332840.5_Intron	NM_000362.4	NP_000353.1	P35625	TIMP3_HUMAN	TIMP metallopeptidase inhibitor 3	204			S -> C (in SFD).		negative regulation of membrane protein ectodomain proteolysis|visual perception		metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(2)|large_intestine(3)|lung(1)|urinary_tract(1)	7						CCGGATAAAAGCATCATCAAT	0.592													A	33255339	G	A	33255339	3	1	364	1	0	0	0	0	1	0	0	0	16019	971	34	2	629	2	TIMP3	22	33255339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	380148	33255339	18049227	14765	38267											
SYN3	8224	broad.mit.edu	37	chr22	33402448	33402448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgaggggcctgcttcAtggcactggagagggagcta	7	8	17	9	0	1	2	1	1	0	1	1	4	1	3	2	6	2	3	2	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:33402448A>G	ENST00000358763.2	-	2	442	c.200T>C	c.(199-201)aTg>aCg	p.M67T	SYN3_ENST00000332840.5_Missense_Mutation_p.M67T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	67	B; linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						GGCCTGCTTCATGGCACTGGA	0.617													G	33402448	A	G	33402448	3	3	364	1	0	0	0	0	1	0	0	0	15539	217	8	3	1594	3	SYN3	22	33402448	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	147109	33402448	17902118	14766	38268											
LARGE	9215	broad.mit.edu	37	chr22	34046551	34046551	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttctcctcctccacctcGcgcatgcgcacctccaggct	4	9	8	20	4	1	0	0	0	1	0	6	0	4	0	6	2	1	4	6	2	0	1	rs145048151	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:34046551G>A	ENST00000354992.2	-	4	781	c.210C>T	c.(208-210)cgC>cgT	p.R70R	LARGE_ENST00000397394.2_Silent_p.R70R|LARGE_ENST00000402320.1_Silent_p.R70R|LARGE_ENST00000437602.2_Silent_p.R70R|LARGE_ENST00000337431.2_Silent_p.R70R	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	70					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CCTCCACCTCGCGCATGCGCA	0.692													A	34046551	G	A	34046551	2	1	364	1	0	0	0	0	0	0	0	1	8686	1074	38	1		1	LARGE	22	34046551	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644103	34046551	17258015	14767	38269											
TOM1	10043	broad.mit.edu	37	chr22	35726441	35726441	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctcatcgtcaatgaCaatctcaacaatgtgttcct	11	12	7	11	1	3	1	3	1	1	0	6	2	4	1	1	0	3	3	1	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35726441C>T	ENST00000382034.5	+	9	1008	c.666C>T	c.(664-666)gaC>gaT	p.D222D	TOM1_ENST00000436462.2_Silent_p.D251D|TOM1_ENST00000411850.1_Silent_p.D289D|TOM1_ENST00000447733.1_Silent_p.D256D|TOM1_ENST00000449058.2_Silent_p.D289D|TOM1_ENST00000425375.1_Silent_p.D244D			O60784	TOM1_HUMAN	target of myb1 (chicken)	289	GAT.				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						TCGTCAATGACAATCTCAACA	0.602													T	35726441	C	T	35726441	2	4	364	1	0	0	0	0	0	0	0	1	16451	477	17	2		2	TOM1	22	35726441	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1679890	35726441	15578125	14768	38270											
TOM1	10043	broad.mit.edu	37	chr22	35741775	35741775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtggctgtccactgacGtggtatgttggggcccactc	6	10	14	11	1	0	1	0	1	0	0	2	1	1	1	2	4	1	4	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35741775G>A	ENST00000411850.1	+	13	1407	c.1282G>A	c.(1282-1284)Gtg>Atg	p.V428M	TOM1_ENST00000436462.2_Missense_Mutation_p.V390M|TOM1_ENST00000447733.1_Missense_Mutation_p.V395M|TOM1_ENST00000449058.2_Missense_Mutation_p.V428M|TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000425375.1_Missense_Mutation_p.V383M	NM_001135732.1	NP_001129204.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	428					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GTCCACTGACGTGGTATGTTG	0.567													A	35741775	G	A	35741775	3	1	364	1	0	0	0	0	1	0	0	0	16451	1145	40	1	1332	1	TOM1	22	35741775	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15334	35741775	15562791	14769	38271											
MCM5	4174	broad.mit.edu	37	chr22	35819225	35819225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtggagggcttcaccaGccaggaggaccaggagatgc	10	4	18	9	0	1	1	1	0	0	1	1	5	1	4	3	7	2	1	3	7	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35819225G>A	ENST00000216122.4	+	16	2148	c.1994G>A	c.(1993-1995)aGc>aAc	p.S665N	MCM5_ENST00000382011.5_Missense_Mutation_p.S622N	NM_006739.3	NP_006730.2	P33992	MCM5_HUMAN	minichromosome maintenance complex component 5	665					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|DNA binding|helicase activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29						GGCTTCACCAGCCAGGAGGAC	0.602													A	35819225	G	A	35819225	3	1	364	1	0	0	0	0	1	0	0	0	9465	971	34	2	2052	2	MCM5	22	35819225	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	77450	35819225	15485341	14770	38272											
RASD2	23551	broad.mit.edu	37	chr22	35947819	35947819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagaacaccaacgtggacGagatgttctacgtgctcttc	12	9	10	10	3	2	3	0	0	2	3	3	5	2	4	1	1	4	2	1	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35947819G>A	ENST00000216127.4	+	3	1183	c.541G>A	c.(541-543)Gag>Aag	p.E181K		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	181					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						CAACGTGGACGAGATGTTCTA	0.632													A	35947819	G	A	35947819	3	1	364	1	0	0	0	0	1	0	0	0	13155	1059	37	1	547	1	RASD2	22	35947819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	128594	35947819	15356747	14771	38273											
RASD2	23551	broad.mit.edu	37	chr22	35948047	35948047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtccttcgggaaggccagGcccgtgagagggacaagtgc	9	5	17	10	2	0	1	0	1	0	1	2	4	1	3	3	5	1	0	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:35948047G>A	ENST00000216127.4	+	3	1411	c.769G>A	c.(769-771)Gcc>Acc	p.A257T		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	257					locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						GGAAGGCCAGGCCCGTGAGAG	0.657													A	35948047	G	A	35948047	3	1	364	1	0	0	0	0	1	0	0	0	13155	1203	42	2	775	2	RASD2	22	35948047	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	228	35948047	15356519	14772	38274											
APOL5	80831	broad.mit.edu	37	chr22	36122598	36122598	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtttggccctagcacctgtGacagcaggaggcagtctcat	8	9	13	11	0	1	1	1	1	1	0	2	2	1	2	2	4	2	4	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122598G>A	ENST00000249044.2	+	3	483	c.483G>A	c.(481-483)gtG>gtA	p.V161V		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	161					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TAGCACCTGTGACAGCAGGAG	0.542													A	36122598	G	A	36122598	2	1	364	1	0	0	0	0	0	0	0	1	812	1277	45	2		2	APOL5	22	36122598	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	174551	36122598	15181968	14773	38275											
APOL5	80831	broad.mit.edu	37	chr22	36122838	36122838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagctatccagggcatcaaGgatcttcatgcctaccagat	13	9	8	11	0	3	1	2	0	1	1	4	2	4	2	3	2	3	2	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36122838G>T	ENST00000249044.2	+	3	723	c.723G>T	c.(721-723)aaG>aaT	p.K241N		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	241					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGGCATCAAGGATCTTCATG	0.458													T	36122838	G	T	36122838	3	4	364	1	0	0	0	0	1	0	0	0	812	991	35	4	733	4	APOL5	22	36122838	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240	36122838	15181728	14774	38276											
APOL1	8542	broad.mit.edu	37	chr22	36661287	36661287	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcacgataaaggccagcaGtacagaaactggtttctgaa	14	8	11	8	1	1	2	0	1	1	1	1	3	1	2	1	3	3	4	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36661287G>A	ENST00000319136.4	+	7	720	c.453G>A	c.(451-453)caG>caA	p.Q151Q	APOL1_ENST00000347595.7_Silent_p.Q14Q|APOL1_ENST00000397279.4_Silent_p.Q135Q|APOL1_ENST00000422706.1_Silent_p.Q135Q|APOL1_ENST00000397278.3_Silent_p.Q135Q|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Silent_p.Q117Q	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	135					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						AAGGCCAGCAGTACAGAAACT	0.473													A	36661287	G	A	36661287	2	1	364	1	0	0	0	0	0	0	0	1	808	1020	36	2		2	APOL1	22	36661287	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	538449	36661287	14643279	14775	38277											
MYH9	4627	broad.mit.edu	37	chr22	36684352	36684352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggttcttgttggccgagtcGatgtgcgcctccaggtcctt	3	13	13	12	4	1	0	0	0	1	0	4	2	3	0	4	3	1	2	4	3	0	4	rs143947828	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36684352G>A	ENST00000216181.5	-	34	5108	c.4878C>T	c.(4876-4878)atC>atT	p.I1626I		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1626			I -> V (in dbSNP:rs2269529).		actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGGCCGAGTCGATGTGCGCCT	0.647			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				A	36684352	G	A	36684352	2	1	364	1	0	0	0	0	0	0	0	1	10118	1048	37	1		1	MYH9	22	36684352	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23065	36684352	14620214	14776	38278											
MYH9	4627	broad.mit.edu	37	chr22	36697595	36697595	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacctgagactgcagcgtCtccatctccgtgagcctgtt	6	10	9	16	2	2	2	0	2	2	1	4	3	2	2	5	0	3	2	5	0	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36697595C>T	ENST00000216181.5	-	21	2846	c.2616G>A	c.(2614-2616)gaG>gaA	p.E872E		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	872					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						ACTGCAGCGTCTCCATCTCCG	0.637			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated		OREG0026520	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	36697595	C	T	36697595	2	4	364	1	0	0	0	0	0	0	0	1	10118	912	32	2		2	MYH9	22	36697595	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13243	36697595	14606971	14777	38279											
MYH9	4627	broad.mit.edu	37	chr22	36716362	36716362	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggatggtgacgtgtccAttggacaggaagcggtattt	8	10	16	7	3	0	1	0	1	0	0	1	4	1	4	2	6	1	1	2	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36716362A>G	ENST00000216181.5	-	9	1145	c.915T>C	c.(913-915)aaT>aaC	p.N305N		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	305	Myosin head-like.				actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						TGACGTGTCCATTGGACAGGA	0.577			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				G	36716362	A	G	36716362	2	3	364	1	0	0	0	0	0	0	0	1	10118	214	8	3		3	MYH9	22	36716362	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	18767	36716362	14588204	14778	38280											
CACNG2	10369	broad.mit.edu	37	chr22	36983581	36983581	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcaatttgcttgcacaGacctttgaaattccctgcaa	11	13	7	10	0	1	3	1	2	0	1	2	3	2	3	2	0	3	3	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:36983581G>T	ENST00000300105.6	-	2	1207	c.226C>A	c.(226-228)Ctg>Atg	p.L76M		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	76					membrane depolarization|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	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						TGCTTGCACAGACCTTTGAAA	0.483													T	36983581	G	T	36983581	3	4	364	1	0	0	0	0	1	0	0	0	2583	933	33	4	757	4	CACNG2	22	36983581	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	267219	36983581	14320985	14779	38281											
MPST	4357	broad.mit.edu	37	chr22	37425477	37425477	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccagacgtgcccatctaCgatggctcctgggtggagtg	8	8	14	11	2	1	1	0	0	1	1	2	3	2	2	3	3	3	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37425477C>T	ENST00000397225.2	+	3	1731	c.816C>T	c.(814-816)taC>taT	p.Y272Y	MPST_ENST00000404802.3_Silent_p.Y272Y|MPST_ENST00000429360.2_Silent_p.Y272Y|MPST_ENST00000404393.1_3'UTR|MPST_ENST00000401419.3_Silent_p.Y272Y|MPST_ENST00000341116.3_Silent_p.Y272Y|MPST_ENST00000397129.1_Silent_p.Y292Y			P25325	THTM_HUMAN	mercaptopyruvate sulfurtransferase	272	Rhodanese 2.				cyanate catabolic process|response to toxin		3-mercaptopyruvate sulfurtransferase activity|thiosulfate sulfurtransferase activity			central_nervous_system(2)|kidney(1)|lung(2)|prostate(1)|skin(1)	7						TGCCCATCTACGATGGCTCCT	0.657													T	37425477	C	T	37425477	2	4	364	1	0	0	0	0	0	0	0	1	9820	547	19	1		1	MPST	22	37425477	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	441896	37425477	13879089	14780	38282											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462235	37462235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagccccgccaggaaccagCggccactgagtgccttgcac	8	4	11	18	2	0	1	0	1	0	0	0	2	0	2	7	2	5	1	7	2	1	1	rs34971651		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37462235C>T	ENST00000381792.2	-	19	2500	c.2360G>A	c.(2359-2361)cGc>cAc	p.R787H	TMPRSS6_ENST00000406725.1_Missense_Mutation_p.R765H|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.R774H|TMPRSS6_ENST00000406856.1_Missense_Mutation_p.R787H			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	774	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CAGGAACCAGCGGCCACTGAG	0.627													T	37462235	C	T	37462235	3	4	364	1	0	0	0	0	1	0	0	0	16351	768	27	1	118	1	TMPRSS6	22	37462235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36758	37462235	13842331	14781	38283											
TMPRSS6	164656	broad.mit.edu	37	chr22	37499319	37499319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggccagcagcacaaacaGgggcaccaggcggaggtagc	12	1	16	12	1	0	0	0	0	0	0	0	1	0	1	2	6	4	4	2	6	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37499319G>A	ENST00000381792.2	-	2	279	c.139C>T	c.(139-141)Ctg>Ttg	p.L47L	TMPRSS6_ENST00000406725.1_Silent_p.L47L|TMPRSS6_ENST00000346753.3_Silent_p.L56L|TMPRSS6_ENST00000442782.2_Silent_p.L56L|TMPRSS6_ENST00000406856.1_Silent_p.L47L			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	56					angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						AGCACAAACAGGGGCACCAGG	0.652													A	37499319	G	A	37499319	2	1	364	1	0	0	0	0	0	0	0	1	16351	991	35	2		2	TMPRSS6	22	37499319	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37084	37499319	13805247	14782	38284											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578569	37578569	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggttcacaaagaccctttCgaagagcagcgtctggaagt	13	8	11	9	2	2	2	1	0	1	2	3	4	2	3	1	2	2	2	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37578569C>T	ENST00000337843.2	-	3	571	c.496G>A	c.(496-498)Gaa>Aaa	p.E166K	C1QTNF6_ENST00000397110.2_Missense_Mutation_p.E166K|RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000470655.1_5'UTR|C1QTNF6_ENST00000255836.6_Missense_Mutation_p.E42K	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	147	C1q.					collagen		p.E166K(1)		breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						AAGACCCTTTCGAAGAGCAGC	0.622													T	37578569	C	T	37578569	3	4	364	1	0	0	0	0	1	0	0	0	1987	893	31	1	344	1	C1QTNF6	22	37578569	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	79250	37578569	13725997	14783	38285											
SSTR3	6753	broad.mit.edu	37	chr22	37603286	37603286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcaggtgctcatgccgCggggcactcccgagaagacc	7	6	15	13	3	1	2	1	0	0	2	2	3	2	2	3	4	2	3	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37603286C>T	ENST00000328544.3	-	2	1090	c.557G>A	c.(556-558)cGc>cAc	p.R186H	SSTR3_ENST00000402501.1_Missense_Mutation_p.R186H	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	186					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCTCATGCCGCGGGGCACTCC	0.726													T	37603286	C	T	37603286	3	4	364	1	0	0	0	0	1	0	0	0	15295	768	27	1	703	1	SSTR3	22	37603286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24717	37603286	13701280	14784	38286											
ELFN2	114794	broad.mit.edu	37	chr22	37769952	37769952	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatctggttgaccttgtcCacctccttggcaatggtgga	7	13	11	10	0	1	2	0	2	1	0	3	3	3	3	4	4	0	2	4	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37769952C>A	ENST00000402918.2	-	3	2408	c.1623G>T	c.(1621-1623)gtG>gtT	p.V541V	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							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)					TGACCTTGTCCACCTCCTTGG	0.642													A	37769952	C	A	37769952	2	1	364	1	0	0	0	0	0	0	0	1	5099	581	21	4		4	ELFN2	22	37769952	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	166666	37769952	13534614	14785	38287											
ELFN2	114794	broad.mit.edu	37	chr22	37770817	37770817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggggtggctcacgggcCgggcgggcagcgagccattc	4	5	20	12	5	1	0	1	0	0	0	2	1	1	0	2	6	2	2	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770817C>T	ENST00000402918.2	-	3	1543	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	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							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)					GCTCACGGGCCGGGCGGGCAG	0.687													T	37770817	C	T	37770817	3	4	364	1	0	0	0	0	1	0	0	0	5099	652	23	1	1708	1	ELFN2	22	37770817	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	865	37770817	13533749	14786	38288											
ELFN2	114794	broad.mit.edu	37	chr22	37770993	37770993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagccaggccaggaagccGaagaggtcgcactcacagtt	12	4	12	13	2	1	1	1	0	0	1	2	3	1	2	4	3	2	2	4	3	2	1	rs146700910	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37770993G>A	ENST00000402918.2	-	3	1367	c.582C>T	c.(580-582)ttC>ttT	p.F194F	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		LRRCT.					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)					CCAGGAAGCCGAAGAGGTCGC	0.647													A	37770993	G	A	37770993	2	1	364	1	0	0	0	0	0	0	0	1	5099	1049	37	1		1	ELFN2	22	37770993	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	176	37770993	13533573	14787	38289											
ELFN2	114794	broad.mit.edu	37	chr22	37771272	37771272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacctgcaggctcgactgGcccaggaaggcaccgtcctc	8	5	13	15	2	0	0	0	0	0	0	3	3	1	2	4	5	1	3	4	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:37771272G>A	ENST00000402918.2	-	3	1088	c.303C>T	c.(301-303)ggC>ggT	p.G101G	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							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)					GGCTCGACTGGCCCAGGAAGG	0.602													A	37771272	G	A	37771272	2	1	364	1	0	0	0	0	0	0	0	1	5099	1190	42	2		2	ELFN2	22	37771272	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	279	37771272	13533294	14788	38290											
SH3BP1	23616	broad.mit.edu	37	chr22	38046569	38046569	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcaacttcaacgtgtcaGgcctcttctcagctgttacc	9	12	6	14	1	5	0	4	0	2	0	6	0	5	0	2	1	4	2	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38046569G>T	ENST00000599616.1	+	14	1243	c.1243G>T	c.(1243-1245)Ggc>Tgc	p.G415C	SH3BP1_ENST00000442465.2_3'UTR|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_Missense_Mutation_p.G479C			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	479	Rho-GAP.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CAACGTGTCAGGCCTCTTCTC	0.632													T	38046569	G	T	38046569	3	4	364	1	0	0	0	0	1	0	0	0	14337	1000	35	4	1497	4	SH3BP1	22	38046569	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	275297	38046569	13257997	14789	38291											
TRIOBP	11078	broad.mit.edu	37	chr22	38120281	38120281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaatagagccacacgagAcaaccccagaacatcctgtg	14	5	7	15	1	0	3	0	0	0	3	2	4	2	3	5	0	3	0	5	0	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38120281A>G	ENST00000406386.3	+	7	1973	c.1718A>G	c.(1717-1719)gAc>gGc	p.D573G		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	573					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					GCCACACGAGACAACCCCAGA	0.587													G	38120281	A	G	38120281	3	3	364	1	0	0	0	0	1	0	0	0	16654	275	10	3	1736	3	TRIOBP	22	38120281	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	73712	38120281	13184285	14790	38292											
GCAT	23464	broad.mit.edu	37	chr22	38211691	38211691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctacacgacagggcctgGgcccctggtgtccctgctgc	4	7	15	15	1	0	0	0	0	0	0	1	1	1	0	4	4	3	2	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38211691G>A	ENST00000323205.6	+	7	977	c.914G>A	c.(913-915)gGg>gAg	p.G305E	GCAT_ENST00000248924.6_Missense_Mutation_p.G279E	NM_001171690.1	NP_001165161.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	279					biosynthetic process|cellular amino acid metabolic process		glycine C-acetyltransferase activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)|Pyridoxal Phosphate(DB00114)	ACAGGGCCTGGGCCCCTGGTG	0.657													A	38211691	G	A	38211691	3	1	364	1	0	0	0	0	1	0	0	0	6338	1232	43	2	940	2	GCAT	22	38211691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91410	38211691	13092875	14791	38293											
ANKRD54	129138	broad.mit.edu	37	chr22	38228688	38228688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caggcgggtgcagaggtcatCcaggcgttctcgctgctcat	6	9	14	12	3	3	1	2	0	1	1	5	1	4	1	1	4	2	4	1	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38228688C>T	ENST00000215941.4	-	7	976	c.784G>A	c.(784-786)Gat>Aat	p.D262N	ANKRD54_ENST00000609454.1_Missense_Mutation_p.D69N|ANKRD54_ENST00000411961.2_Missense_Mutation_p.D246N|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.D142N	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	262										lung(1)	1	Melanoma(58;0.045)					CAGAGGTCATCCAGGCGTTCT	0.612													T	38228688	C	T	38228688	3	4	364	1	0	0	0	0	1	0	0	0	680	855	30	2	126	2	ANKRD54	22	38228688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16997	38228688	13075878	14792	38294											
MICALL1	85377	broad.mit.edu	37	chr22	38333770	38333770	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagggaggaagaggaagacaAgatgttggaagccatgatca	16	5	15	5	0	1	4	1	1	0	3	1	8	1	8	1	4	1	1	1	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38333770A>C	ENST00000215957.6	+	15	2567	c.2441A>C	c.(2440-2442)aAg>aCg	p.K814T	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	814						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					GAGGAAGACAAGATGTTGGAA	0.547													C	38333770	A	C	38333770	3	2	364	1	0	0	0	0	1	0	0	0	9648	72	3	5	2499	5	MICALL1	22	38333770	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	105082	38333770	12970796	14793	38295											
BAIAP2L2	80115	broad.mit.edu	37	chr22	38493048	38493048	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaactcacccggccgaaGaactgcaggaaggtgttgga	11	6	13	11	2	1	1	1	0	0	1	2	4	2	3	3	4	3	2	3	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38493048G>T	ENST00000381669.3	-	7	747	c.603C>A	c.(601-603)ttC>ttA	p.F201L	BAIAP2L2_ENST00000332536.5_Missense_Mutation_p.F201L	NM_025045.4	NP_079321.3	Q6UXY1	BI2L2_HUMAN	BAI1-associated protein 2-like 2	201	IMD.				filopodium assembly|signal transduction		cytoskeletal adaptor activity|SH3 domain binding			large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)	8	Melanoma(58;0.045)					CCCGGCCGAAGAACTGCAGGA	0.602													T	38493048	G	T	38493048	3	4	364	1	0	0	0	0	1	0	0	0	1308	933	33	4	1018	4	BAIAP2L2	22	38493048	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	159278	38493048	12811518	14794	38296											
PLA2G6	8398	broad.mit.edu	37	chr22	38516781	38516781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacttgggtttcctgacgTccgtcatcttggtgtgctcc	3	16	10	12	2	2	1	1	1	1	0	5	1	5	1	3	2	2	2	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38516781T>C	ENST00000332509.3	-	12	1910	c.1727A>G	c.(1726-1728)gAc>gGc	p.D576G	PLA2G6_ENST00000402064.1_Missense_Mutation_p.D522G|PLA2G6_ENST00000335539.3_Missense_Mutation_p.D522G	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	576					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	TTTCCTGACGTCCGTCATCTT	0.652													C	38516781	T	C	38516781	3	2	364	1	0	0	0	0	1	0	0	0	12085	1667	58	3	717	3	PLA2G6	22	38516781	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	23733	38516781	12787785	14795	38297											
PLA2G6	8398	broad.mit.edu	37	chr22	38539144	38539144	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaattgtcaccctggacagCataatggaagacggtctctc	12	9	10	10	1	2	2	1	0	1	2	4	4	2	4	1	3	1	1	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38539144C>T	ENST00000332509.3	-	4	760	c.577G>A	c.(577-579)Gct>Act	p.A193T	PLA2G6_ENST00000436218.1_Intron|PLA2G6_ENST00000402064.1_Missense_Mutation_p.A193T|PLA2G6_ENST00000335539.3_Missense_Mutation_p.A193T	NM_003560.2	NP_003551.2	O60733	PA2G6_HUMAN	phospholipase A2, group VI (cytosolic, calcium-independent)	193					cardiolipin biosynthetic process|cell death|lipid catabolic process	centrosome|membrane				breast(2)|endometrium(6)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	24	Melanoma(58;0.045)				Quinacrine(DB01103)	CCCTGGACAGCATAATGGAAG	0.597													T	38539144	C	T	38539144	3	4	364	1	0	0	0	0	1	0	0	0	12085	710	25	2	1899	2	PLA2G6	22	38539144	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22363	38539144	12765422	14796	38298											
TMEM184B	25829	broad.mit.edu	37	chr22	38617604	38617604	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctccagggtggactgctGcgtgtactgctggtaggcag	6	9	17	9	1	0	0	0	0	0	0	1	1	1	1	1	5	4	6	1	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38617604G>A	ENST00000361906.3	-	9	1304	c.1096C>T	c.(1096-1098)Cag>Tag	p.Q366*	TMEM184B_ENST00000504337.1_5'UTR|TMEM184B_ENST00000361684.4_Nonsense_Mutation_p.Q366*	NM_001195072.1|NM_012264.4	NP_001182001.1|NP_036396.2	Q9Y519	T184B_HUMAN	transmembrane protein 184B	366				Q -> L (in Ref. 9; BAC11607).		integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	8	Melanoma(58;0.045)					GTGGACTGCTGCGTGTACTGC	0.642													A	38617604	G	A	38617604	4	1	364	1	0	0	0	0	0	1	0	0	16205	1328	46	2	131	2	TMEM184B	22	38617604	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78460	38617604	12686962	14797	38299											
CSNK1E	1454	broad.mit.edu	37	chr22	38690147	38690147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccgggagacctcttgccGcccagtgaggtctgaggagg	7	7	16	11	2	2	3	0	2	2	1	3	6	3	4	4	4	1	0	4	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38690147G>A	ENST00000396832.1	-	9	1446	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	CSNK1E_ENST00000359867.3_Missense_Mutation_p.R396W|CSNK1E_ENST00000400206.2_Missense_Mutation_p.R396W|CSNK1E_ENST00000403904.1_Missense_Mutation_p.R396W	NM_152221.2	NP_689407.1	P49674	KC1E_HUMAN	casein kinase 1, epsilon	396					DNA repair|G2/M transition of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|signal transduction	cytosol|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Melanoma(58;0.045)					ACCTCTTGCCGCCCAGTGAGG	0.652													A	38690147	G	A	38690147	3	1	364	1	0	0	0	0	1	0	0	0	3986	1086	38	1	72	1	CSNK1E	22	38690147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72543	38690147	12614419	14798	38300											
KCNJ4	3761	broad.mit.edu	37	chr22	38823262	38823262	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccgtggcctccaccatGccctccaggatgaccacgat	8	7	10	16	2	0	1	0	1	0	0	2	3	2	2	7	3	1	0	7	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38823262G>A	ENST00000303592.3	-	2	1134	c.876C>T	c.(874-876)ggC>ggT	p.G292G	RP3-434P1.6_ENST00000433230.1_RNA	NM_004981.1|NM_152868.2	NP_004972.1|NP_690607.1	P48050	IRK4_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 4	292					synaptic transmission	basolateral plasma membrane|voltage-gated potassium channel complex	inward rectifier potassium channel activity|PDZ domain binding			endometrium(7)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	23	Melanoma(58;0.0286)					CCTCCACCATGCCCTCCAGGA	0.617													A	38823262	G	A	38823262	2	1	364	1	0	0	0	0	0	0	0	1	8111	1306	46	2		2	KCNJ4	22	38823262	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	133115	38823262	12481304	14799	38301											
DMC1	11144	broad.mit.edu	37	chr22	38963608	38963608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattccatgtttctgtaacaGgtcaatatcttgaaacaaag	15	13	6	7	0	3	1	1	1	2	0	4	1	4	1	1	1	2	2	1	1	6	5	rs139861590		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:38963608G>T	ENST00000216024.2	-	3	352	c.76C>A	c.(76-78)Ctg>Atg	p.L26M	DMC1_ENST00000428462.2_Missense_Mutation_p.L26M	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	26					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					TTCTGTAACAGGTCAATATCT	0.333								Homologous recombination					T	38963608	G	T	38963608	3	4	364	1	0	0	0	0	1	0	0	0	4618	991	35	4	994	4	DMC1	22	38963608	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140346	38963608	12340958	14800	38302											
CBX6	23466	broad.mit.edu	37	chr22	39262791	39262791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgtggcggatctgtgtaCgcaggacgctctcgctgaac	7	10	13	11	4	3	1	1	1	2	0	4	3	3	3	0	3	2	4	0	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262791C>T	ENST00000407418.3	-	5	785	c.662G>A	c.(661-663)cGt>cAt	p.R221H	CBX6_ENST00000216083.6_Missense_Mutation_p.R203H			O95503	CBX6_HUMAN	chromobox homolog 6	221					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					GATCTGTGTACGCAGGACGCT	0.701													T	39262791	C	T	39262791	3	4	364	1	0	0	0	0	1	0	0	0	2748	536	19	1	580	1	CBX6	22	39262791	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299183	39262791	12041775	14801	38303											
CBX6	23466	broad.mit.edu	37	chr22	39262866	39262866	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactttggggcgggccagcGccccggccccctgcccggcg	2	4	17	18	5	0	0	0	0	0	0	0	1	0	1	6	6	2	0	6	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262866G>T	ENST00000407418.3	-	5	710	c.587C>A	c.(586-588)gCg>gAg	p.A196E	CBX6_ENST00000216083.6_Missense_Mutation_p.A178E			O95503	CBX6_HUMAN	chromobox homolog 6	196					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					gcgggccagcgccccggcccc	0.662													T	39262866	G	T	39262866	3	4	364	1	0	0	0	0	1	0	0	0	2748	1087	38	4	655	4	CBX6	22	39262866	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	75	39262866	12041700	14802	38304											
CBX6	23466	broad.mit.edu	37	chr22	39262895	39262895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcccggcgcccccgccGccagcgcccttgtcgatcac	3	5	10	23	6	1	0	1	0	0	0	2	1	1	0	7	1	2	0	7	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39262895G>A	ENST00000407418.3	-	5	681	c.558C>T	c.(556-558)ggC>ggT	p.G186G	CBX6_ENST00000216083.6_Silent_p.G168G			O95503	CBX6_HUMAN	chromobox homolog 6	186					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					cgcccccgccgccAGCGCCCT	0.677													A	39262895	G	A	39262895	2	1	364	1	0	0	0	0	0	0	0	1	2748	1074	38	1		1	CBX6	22	39262895	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	29	39262895	12041671	14803	38305											
APOBEC3D	140564	broad.mit.edu	37	chr22	39418966	39418966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatctcctttgggacacaGgggtctttcgaggcccggta	8	10	12	11	2	2	0	0	0	2	0	4	2	2	1	2	5	0	1	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39418966G>T	ENST00000216099.8	+	2	564	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	APOBEC3D_ENST00000427494.2_Missense_Mutation_p.G53W|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.G53W	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTGGGACACAGGGGTCTTTCG	0.498													T	39418966	G	T	39418966	3	4	364	1	0	0	0	0	1	0	0	0	795	1000	35	4	163	4	APOBEC3D	22	39418966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	156071	39418966	11885600	14804	38306											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421198	39421198	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggaacccctgcctgcccTgtgtggtgaaggtgaccaaa	9	8	12	12	0	0	2	0	2	0	0	0	3	0	3	5	3	3	0	5	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421198T>C	ENST00000216099.8	+	3	741	c.334T>C	c.(334-336)Tgt>Cgt	p.C112R	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C112R	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					CTGCCTGCCCTGTGTGGTGAA	0.552													C	39421198	T	C	39421198	3	2	364	1	0	0	0	0	1	0	0	0	795	1580	55	3	344	3	APOBEC3D	22	39421198	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	2232	39421198	11883368	14805	38307											
APOBEC3D	140564	broad.mit.edu	37	chr22	39421574	39421574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctcagactttgcatactGctgggaaaactttgtgtgca	10	13	9	9	0	1	1	1	0	1	1	2	2	1	2	0	1	5	3	0	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39421574G>A	ENST00000216099.8	+	4	910	c.503G>A	c.(502-504)tGc>tAc	p.C168Y	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Missense_Mutation_p.C168Y	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TTTGCATACTGCTGGGAAAAC	0.527													A	39421574	G	A	39421574	3	1	364	1	0	0	0	0	1	0	0	0	795	1319	46	2	517	2	APOBEC3D	22	39421574	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	376	39421574	11882992	14806	38308											
APOBEC3D	140564	broad.mit.edu	37	chr22	39425374	39425374	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgtgccctcagaaacccGatggaggcaatgtacccaca	11	8	9	13	1	2	1	1	0	1	1	2	3	2	2	3	2	3	2	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39425374G>A	ENST00000216099.8	+	5	1019	c.612G>A	c.(610-612)ccG>ccA	p.P204P	APOBEC3D_ENST00000427494.2_Intron|APOBEC3D_ENST00000381568.4_Silent_p.P204P	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D						negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					TCAGAAACCCGATGGAGGCAA	0.522													A	39425374	G	A	39425374	2	1	364	1	0	0	0	0	0	0	0	1	795	1045	37	1		1	APOBEC3D	22	39425374	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3800	39425374	11879192	14807	38309											
APOBEC3G	60489	broad.mit.edu	37	chr22	39483117	39483117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagacctgagtgggaggctgCgggccattctccaggtgagg	8	7	17	9	1	1	3	0	2	1	1	2	4	1	4	3	5	1	1	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39483117C>T	ENST00000407997.3	+	7	1483	c.1126C>T	c.(1126-1128)Cgg>Tgg	p.R376W	APOBEC3G_ENST00000452957.2_Missense_Mutation_p.R376W	NM_021822.3	NP_068594.1			apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3G											central_nervous_system(1)|large_intestine(4)|lung(5)|skin(1)|stomach(1)	12	Melanoma(58;0.04)					TGGGAGGCTGCGGGCCATTCT	0.632													T	39483117	C	T	39483117	3	4	364	1	0	0	0	0	1	0	0	0	797	759	27	1	1152	1	APOBEC3G	22	39483117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57743	39483117	11821449	14808	38310											
APOBEC3H	164668	broad.mit.edu	37	chr22	39497438	39497438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcctgtactaccactggtGcaagccccagcagaaggggc	9	5	12	15	1	0	1	0	0	0	1	0	1	0	1	5	3	5	3	5	3	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39497438G>A	ENST00000442487.3	+	3	474	c.347G>A	c.(346-348)tGc>tAc	p.C116Y	APOBEC3H_ENST00000401756.1_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000421988.2_Missense_Mutation_p.C116Y|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.C116Y	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	116					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					TACCACTGGTGCAAGCCCCAG	0.592													A	39497438	G	A	39497438	3	1	364	1	0	0	0	0	1	0	0	0	798	1319	46	2	353	2	APOBEC3H	22	39497438	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14321	39497438	11807128	14809	38311											
TAB1	10454	broad.mit.edu	37	chr22	39811107	39811107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgctgatggcaagggcActgagagccacccgccagag	10	5	13	13	1	1	3	0	2	1	2	1	4	1	3	3	2	2	3	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39811107A>G	ENST00000216160.6	+	2	192	c.130A>G	c.(130-132)Act>Gct	p.T44A	TAB1_ENST00000331454.3_Missense_Mutation_p.T44A	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	44					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TGGCAAGGGCACTGAGAGCCA	0.602													G	39811107	A	G	39811107	3	3	364	1	0	0	0	0	1	0	0	0	15592	159	6	3	136	3	TAB1	22	39811107	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	313669	39811107	11493459	14810	38312											
MGAT3	4248	broad.mit.edu	37	chr22	39883969	39883969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccagggaggtgccgcGccgcgtcatcaacgccatca	7	5	14	15	5	3	0	3	0	0	0	3	1	3	1	4	3	3	0	4	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39883969G>A	ENST00000341184.6	+	2	832	c.617G>A	c.(616-618)cGc>cAc	p.R206H		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	206					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GAGGTGCCGCGCCGCGTCATC	0.677													A	39883969	G	A	39883969	3	1	364	1	0	0	0	0	1	0	0	0	9619	1087	38	1	619	1	MGAT3	22	39883969	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	72862	39883969	11420597	14811	38313											
MGAT3	4248	broad.mit.edu	37	chr22	39884759	39884759	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctggttcgacggcacgcaGcaggagtacccgcctgcaga	8	5	15	13	4	0	1	0	0	0	1	1	3	0	2	2	4	3	7	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39884759G>A	ENST00000341184.6	+	2	1622	c.1407G>A	c.(1405-1407)caG>caA	p.Q469Q		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	469					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACGGCACGCAGCAGGAGTACC	0.627													A	39884759	G	A	39884759	2	1	364	1	0	0	0	0	0	0	0	1	9619	962	34	2		2	MGAT3	22	39884759	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	790	39884759	11419807	14812	38314											
ATF4	468	broad.mit.edu	37	chr22	39917987	39917987	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaattggccatctcccaGaaagtttaacaaaacccgac	15	7	5	14	1	1	1	0	0	1	1	2	2	1	1	4	1	2	1	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:39917987G>T	ENST00000337304.2	+	2	1318	c.436G>T	c.(436-438)Gaa>Taa	p.E146*	ATF4_ENST00000404241.2_Nonsense_Mutation_p.E146*|ATF4_ENST00000396680.1_Nonsense_Mutation_p.E146*	NM_001675.2	NP_001666.2	P18848	ATF4_HUMAN	activating transcription factor 4	146					cellular amino acid metabolic process|gluconeogenesis|positive regulation of transcription from RNA polymerase II promoter|response to endoplasmic reticulum stress|transcription from RNA polymerase II promoter	cytoplasm|plasma membrane	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	Melanoma(58;0.04)					CCATCTCCCAGAAAGTTTAAC	0.532													T	39917987	G	T	39917987	4	4	364	1	0	0	0	0	0	1	0	0	1087	943	33	4	442	4	ATF4	22	39917987	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33228	39917987	11386579	14813	38315											
CACNA1I	8911	broad.mit.edu	37	chr22	40054159	40054159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccccaatgccccacagccGgaggagctgaccaacatcct	11	4	8	18	1	0	1	0	1	0	0	1	3	1	3	7	2	4	1	7	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40054159G>A	ENST00000402142.3	+	11	1995	c.1995G>A	c.(1993-1995)ccG>ccA	p.P665P	CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000336649.4_Intron|CACNA1I_ENST00000407673.1_Silent_p.P630P|CACNA1I_ENST00000401624.1_Silent_p.P665P|CACNA1I_ENST00000404898.1_Silent_p.P630P	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	665					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCCCACAGCCGGAGGAGCTGA	0.607													A	40054159	G	A	40054159	2	1	364	1	0	0	0	0	0	0	0	1	2572	1103	39	1		1	CACNA1I	22	40054159	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136172	40054159	11250407	14814	38316											
CACNA1I	8911	broad.mit.edu	37	chr22	40057154	40057154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacccccaatgggcacCtggaccccagtctcccactg	8	6	8	19	0	1	1	0	1	1	0	2	2	1	2	7	2	0	1	7	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40057154C>A	ENST00000336649.4	+	19	2758	c.2758C>A	c.(2758-2760)Ctg>Atg	p.L920M	CACNA1I_ENST00000400164.3_Missense_Mutation_p.L879M|CACNA1I_ENST00000407673.1_Missense_Mutation_p.L879M|CACNA1I_ENST00000402142.3_Missense_Mutation_p.L914M|CACNA1I_ENST00000401624.1_Missense_Mutation_p.L914M|CACNA1I_ENST00000404898.1_Missense_Mutation_p.L879M			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	914					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CAATGGGCACCTGGACCCCAG	0.647													A	40057154	C	A	40057154	3	1	364	1	0	0	0	0	1	0	0	0	2572	680	24	4	2802	4	CACNA1I	22	40057154	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2995	40057154	11247412	14815	38317											
ENTHD1	150350	broad.mit.edu	37	chr22	40161424	40161424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaagtcggggctgataaaCtcctctttacttgaccaaca	11	12	7	11	1	1	2	0	2	1	0	3	2	2	2	2	2	3	1	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40161424C>A	ENST00000325157.6	-	6	1273	c.1023G>T	c.(1021-1023)gaG>gaT	p.E341D		NM_152512.3	NP_689725.2	Q8IYW4	ENTD1_HUMAN	ENTH domain containing 1	341										breast(2)|endometrium(1)|kidney(6)|large_intestine(6)|lung(11)|ovary(3)|skin(3)	32	Melanoma(58;0.0749)					GGCTGATAAACTCCTCTTTAC	0.398													A	40161424	C	A	40161424	3	1	364	1	0	0	0	0	1	0	0	0	5178	564	20	4	808	4	ENTHD1	22	40161424	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104270	40161424	11143142	14816	38318											
FAM83F	113828	broad.mit.edu	37	chr22	40417586	40417586	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcggcaacccggaggggCaggaggagggcgccagcggt	7	1	22	11	5	0	0	0	0	0	0	0	3	0	3	2	9	2	2	2	9	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40417586C>T	ENST00000333407.6	+	4	1166	c.1072C>T	c.(1072-1074)Cag>Tag	p.Q358*	FAM83F_ENST00000473717.1_Nonsense_Mutation_p.Q190*	NM_138435.2	NP_612444.2	Q8NEG4	FA83F_HUMAN	family with sequence similarity 83, member F											breast(1)|endometrium(2)|large_intestine(1)|lung(4)|skin(4)|urinary_tract(2)	14						CCCGGAGGGGCAGGAGGAGGG	0.716													T	40417586	C	T	40417586	4	4	364	1	0	0	0	0	0	1	0	0	5688	711	25	2	1086	2	FAM83F	22	40417586	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	256162	40417586	10886980	14817	38319											
TNRC6B	23112	broad.mit.edu	37	chr22	40661037	40661037	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaccctaaggctaaatctgTtcaatcttccaactctacta	12	13	4	12	0	4	1	1	1	3	0	5	1	5	1	2	1	2	2	2	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40661037T>C	ENST00000454349.2	+	5	1014	c.803T>C	c.(802-804)gTt>gCt	p.V268A	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.V268A|TNRC6B_ENST00000402203.1_Intron	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	268					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GCTAAATCTGTTCAATCTTCC	0.458													C	40661037	T	C	40661037	3	2	364	1	0	0	0	0	1	0	0	0	16441	1725	60	3	942	3	TNRC6B	22	40661037	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	243451	40661037	10643529	14818	38320											
ADSL	158	broad.mit.edu	37	chr22	40745930	40745930	+	Missense_Mutation	SNP	G	G	A																															ggcagctgaggaagagaaacGtttacgacatgatgtgatgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745930G>A	ENST00000216194.7	+	2	304	c.248G>A	c.(247-249)cGt>cAt	p.R83H	ADSL_ENST00000454266.2_Missense_Mutation_p.R83H|ADSL_ENST00000342312.6_Missense_Mutation_p.R83H	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	83					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAGAGAAACGTTTACGACAT	0.463													A	40745930	G	A	40745930	3	1	364	1	0	0	0	0	1	0	0	0	346	1145	40	1	254	1	ADSL	22	40745930	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84893	40745930	10558636	14819	38321	117	2									
ADSL	158	broad.mit.edu	37	chr22	40745935	40745935	+	Nonsense_Mutation	SNP	C	C	T																															ctgaggaagagaaacgtttaCgacatgatgtgatggctcac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40745935C>T	ENST00000216194.7	+	2	309	c.253C>T	c.(253-255)Cga>Tga	p.R85*	ADSL_ENST00000454266.2_Nonsense_Mutation_p.R85*|ADSL_ENST00000342312.6_Nonsense_Mutation_p.R85*	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	85					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						GAAACGTTTACGACATGATGT	0.458													T	40745935	C	T	40745935	4	4	364	1	0	0	0	0	0	1	0	0	346	528	19	1	259	1	ADSL	22	40745935	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5	40745935	10558631	14820	38322	117	2									
SGSM3	27352	broad.mit.edu	37	chr22	40800570	40800570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccctcagctgtggatgCggctctctggggccctgcag	3	10	13	15	1	2	0	1	0	1	0	4	1	3	1	3	4	3	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40800570C>T	ENST00000248929.9	+	6	565	c.376C>T	c.(376-378)Cgg>Tgg	p.R126W	SGSM3_ENST00000454798.2_Missense_Mutation_p.R59W	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	126	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						GCTGTGGATGCGGCTCTCTGG	0.592													T	40800570	C	T	40800570	3	4	364	1	0	0	0	0	1	0	0	0	14317	759	27	1	394	1	SGSM3	22	40800570	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	54635	40800570	10503996	14821	38323											
SGSM3	27352	broad.mit.edu	37	chr22	40802149	40802149	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggtggacatcaagctgctCctgcgcatctgggacctgtt	6	11	13	11	1	2	0	1	0	1	0	3	2	3	2	2	3	3	4	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40802149C>A	ENST00000248929.9	+	9	1071	c.882C>A	c.(880-882)ctC>ctA	p.L294L	SGSM3_ENST00000454798.2_Silent_p.L227L	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	294	Rab-GAP TBC.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TCAAGCTGCTCCTGCGCATCT	0.617													A	40802149	C	A	40802149	2	1	364	1	0	0	0	0	0	0	0	1	14317	842	30	4		4	SGSM3	22	40802149	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1579	40802149	10502417	14822	38324											
SGSM3	27352	broad.mit.edu	37	chr22	40805486	40805486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagagtcctctgctgctttgCcttcagcctctcccaggact	5	13	8	15	0	3	1	1	0	2	1	5	2	4	2	4	1	4	2	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40805486C>T	ENST00000248929.9	+	21	2318	c.2129C>T	c.(2128-2130)gCc>gTc	p.A710V		NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	710	RUN.				cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						TGCTGCTTTGCCTTCAGCCTC	0.627													T	40805486	C	T	40805486	3	4	364	1	0	0	0	0	1	0	0	0	14317	739	26	2	2207	2	SGSM3	22	40805486	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3337	40805486	10499080	14823	38325											
MKL1	57591	broad.mit.edu	37	chr22	40825629	40825629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaatgatggcttccttcagGctggactcaacaggaaggat	11	9	11	10	0	2	1	2	1	0	0	3	4	3	4	2	5	1	2	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40825629G>A	ENST00000396617.3	-	7	872	c.282C>T	c.(280-282)agC>agT	p.S94S	MKL1_ENST00000402042.1_Silent_p.S94S|MKL1_ENST00000407029.1_Silent_p.S94S|MKL1_ENST00000402630.1_Silent_p.S94S|MKL1_ENST00000355630.3_Silent_p.S94S	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	94	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTTCCTTCAGGCTGGACTCAA	0.572			T	RBM15	acute megakaryocytic leukemia								A	40825629	G	A	40825629	2	1	364	1	0	0	0	0	0	0	0	1	9676	1194	42	2		2	MKL1	22	40825629	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	20143	40825629	10478937	14824	38326											
MKL1	57591	broad.mit.edu	37	chr22	40827453	40827453	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccgatctctccggccggGaacgaatcttccgtttgaga	7	10	11	13	5	2	1	0	1	2	1	6	5	5	2	4	2	1	2	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:40827453G>T	ENST00000396617.3	-	6	685	c.95C>A	c.(94-96)tCc>tAc	p.S32Y	MKL1_ENST00000402042.1_Missense_Mutation_p.S32Y|MKL1_ENST00000407029.1_Missense_Mutation_p.S32Y|MKL1_ENST00000402630.1_Missense_Mutation_p.S32Y|MKL1_ENST00000355630.3_Missense_Mutation_p.S32Y	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	32	Mediates interaction with SCAI and ACTB (By similarity).				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						CTCCGGCCGGGAACGAATCTT	0.468			T	RBM15	acute megakaryocytic leukemia								T	40827453	G	T	40827453	3	4	364	1	0	0	0	0	1	0	0	0	9676	1174	41	4	2740	4	MKL1	22	40827453	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1824	40827453	10477113	14825	38327											
MCHR1	2847	broad.mit.edu	37	chr22	41077577	41077577	+	Missense_Mutation	SNP	C	C	T																															gaggatcctgcagcgcatgaCgtcctcagtggcccccgcct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077577C>T	ENST00000249016.4	+	2	1610	c.914C>T	c.(913-915)aCg>aTg	p.T305M	MCHR1_ENST00000381433.2_Missense_Mutation_p.T179M|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	305			T -> M.		elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						CAGCGCATGACGTCCTCAGTG	0.597													T	41077577	C	T	41077577	3	4	364	1	0	0	0	0	1	0	0	0	9457	536	19	1	920	1	MCHR1	22	41077577	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	250124	41077577	10226989	14826	38328	118	2									
MCHR1	2847	broad.mit.edu	37	chr22	41077581	41077581	+	Silent	SNP	C	C	A																															atcctgcagcgcatgacgtcCtcagtggcccccgcctccca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41077581C>A	ENST00000249016.4	+	2	1614	c.918C>A	c.(916-918)tcC>tcA	p.S306S	MCHR1_ENST00000381433.2_Silent_p.S180S|MCHR1_ENST00000498400.1_3'UTR	NM_005297.3	NP_005288.3	Q99705	MCHR1_HUMAN	melanin-concentrating hormone receptor 1	306					elevation of cytosolic calcium ion concentration|feeding behavior|generation of precursor metabolites and energy|inhibition of adenylate cyclase activity by G-protein signaling pathway	integral to plasma membrane|nonmotile primary cilium	neuropeptide receptor activity			endometrium(5)|large_intestine(7)|lung(6)|pancreas(1)|urinary_tract(1)	20						GCATGACGTCCTCAGTGGCCC	0.602													A	41077581	C	A	41077581	2	1	364	1	0	0	0	0	0	0	0	1	9457	668	24	4		4	MCHR1	22	41077581	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4	41077581	10226985	14827	38329	118	2									
SLC25A17	10478	broad.mit.edu	37	chr22	41175130	41175130	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcaacacattaaccactcCtttaacaagaaagatggaga	18	8	6	9	0	0	3	0	0	0	3	1	4	1	3	2	1	4	1	2	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41175130C>T	ENST00000402844.3	-	1	1068	c.88G>A	c.(88-90)Gga>Aga	p.G30R	SLC25A17_ENST00000542412.1_Splice_Site|SLC25A17_ENST00000435456.2_Splice_Site|SLC25A17_ENST00000491545.1_Splice_Site|SLC25A17_ENST00000544408.1_Splice_Site			O43808	PM34_HUMAN	solute carrier family 25 (mitochondrial carrier; peroxisomal membrane protein, 34kDa), member 17	112					fatty acid alpha-oxidation	integral to plasma membrane|mitochondrial inner membrane|peroxisomal membrane	adenine nucleotide transmembrane transporter activity|protein binding			central_nervous_system(1)|large_intestine(4)|lung(2)|skin(1)	8						TTAACCACTCCTTTAACAAGA	0.378													T	41175130	C	T	41175130	3	4	364	1	0	0	0	0	1	0	0	0	14573	695	24	2	609	2	SLC25A17	22	41175130	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	97549	41175130	10129436	14828	38330											
ST13	6767	broad.mit.edu	37	chr22	41223100	41223100	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcttccaagtcttacCtgcatggctgcaagaacctc	8	14	7	12	0	2	1	0	0	2	1	4	1	3	1	3	1	4	4	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41223100C>A	ENST00000216218.3	-	11	1462	c.981G>T	c.(979-981)caG>caT	p.Q327H		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	327	STI1.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAAGTCTTACCTGCATGGCTG	0.428													A	41223100	C	A	41223100	5	1	364	1	0	0	0	0	0	0	1	0	15306	695	24	4	136	4	ST13	22	41223100	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47970	41223100	10081466	14829	38331											
ST13	6767	broad.mit.edu	37	chr22	41231579	41231579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacctgtgtgctttccccCgccacttgtaaggctgagct	5	14	9	13	1	0	1	0	1	0	0	1	1	1	1	4	1	3	4	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231579C>T	ENST00000216218.3	-	7	1044	c.563G>A	c.(562-564)cGg>cAg	p.R188Q		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	188							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TGCTTTCCCCCGCCACTTGTA	0.358													T	41231579	C	T	41231579	3	4	364	1	0	0	0	0	1	0	0	0	15306	652	23	1	570	1	ST13	22	41231579	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8479	41231579	10072987	14830	38332											
ST13	6767	broad.mit.edu	37	chr22	41231859	41231859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggattcagcttgatggcatCtgtgaataagtcaatggctt	11	13	11	6	0	3	2	2	2	1	0	3	3	3	3	0	3	1	3	0	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41231859C>A	ENST00000216218.3	-	6	896	c.415G>T	c.(415-417)Gat>Tat	p.D139Y		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	139							protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						TTGATGGCATCTGTGAATAAG	0.383													A	41231859	C	A	41231859	3	1	364	1	0	0	0	0	1	0	0	0	15306	913	32	4	722	4	ST13	22	41231859	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	280	41231859	10072707	14831	38333											
DNAJB7	150353	broad.mit.edu	37	chr22	41257829	41257829	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccgtttctcatcatttGataatacctcgtatgcctca	8	16	5	12	2	3	1	3	1	1	0	6	1	4	1	3	0	2	2	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41257829G>T	ENST00000307221.4	-	1	301	c.170C>A	c.(169-171)tCa>tAa	p.S57*	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000482652.1_3'UTR|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	57	J.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTCATCATTTGATAATACCTC	0.373													T	41257829	G	T	41257829	4	4	364	1	0	0	0	0	0	1	0	0	4664	1294	45	4	763	4	DNAJB7	22	41257829	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25970	41257829	10046737	14832	38334											
EP300	2033	broad.mit.edu	37	chr22	41566461	41566461	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagtgagggagatgattaTatcttccattgccatcctcc	10	12	8	11	0	1	3	0	2	1	1	4	4	4	3	5	1	1	0	5	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41566461T>C	ENST00000263253.7	+	27	5557	c.4338T>C	c.(4336-4338)taT>taC	p.Y1446Y	RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1446					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GAGATGATTATATCTTCCATT	0.413			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				C	41566461	T	C	41566461	2	2	364	1	0	0	0	0	0	0	0	1	5189	1413	49	3		3	EP300	22	41566461	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	308632	41566461	9738105	14833	38335											
EP300	2033	broad.mit.edu	37	chr22	41574489	41574489	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggtgccagtctacaGgcctatcagcagcgactcct	9	7	12	13	1	2	0	1	0	1	0	3	2	3	0	3	3	4	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574489G>T	ENST00000263253.7	+	31	7993	c.6774G>T	c.(6772-6774)caG>caT	p.Q2258H	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2258					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGTCTACAGGCCTATCAGC	0.582			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				T	41574489	G	T	41574489	3	4	364	1	0	0	0	0	1	0	0	0	5189	991	35	4	6896	4	EP300	22	41574489	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8028	41574489	9730077	14834	38336											
EP300	2033	broad.mit.edu	37	chr22	41574637	41574637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctctctccaatcaagtgCgctctccccagcctgtccct	6	12	5	18	1	4	0	1	0	3	0	8	0	5	0	5	0	2	1	5	0	2	1	rs145312648		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574637C>T	ENST00000263253.7	+	31	8141	c.6922C>T	c.(6922-6924)Cgc>Tgc	p.R2308C	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2308					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CAATCAAGTGCGCTCTCCCCA	0.612			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				T	41574637	C	T	41574637	3	4	364	1	0	0	0	0	1	0	0	0	5189	768	27	1	7044	1	EP300	22	41574637	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	148	41574637	9729929	14835	38337											
EP300	2033	broad.mit.edu	37	chr22	41574836	41574836	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccagaattcaatgctttCtcagcttgctagcaatccag	11	11	8	11	0	2	1	2	0	1	1	4	2	3	2	2	1	4	4	2	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41574836C>A	ENST00000263253.7	+	31	8340	c.7121C>A	c.(7120-7122)tCt>tAt	p.S2374Y	RP1-85F18.5_ENST00000420537.1_RNA|RP1-85F18.6_ENST00000415054.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	2374					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	p.S2374Y(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCAATGCTTTCTCAGCTTGCT	0.547			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				A	41574836	C	A	41574836	3	1	364	1	0	0	0	0	1	0	0	0	5189	913	32	4	7243	4	EP300	22	41574836	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	199	41574836	9729730	14836	38338											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620783	41620783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggaagatctactgtgatgCcgttccttacctcttcaaga	9	12	8	12	2	3	3	1	1	2	2	4	4	4	4	4	1	3	1	4	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41620783C>T	ENST00000216237.5	+	10	1387	c.1229C>T	c.(1228-1230)gCc>gTc	p.A410V		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	410					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TACTGTGATGCCGTTCCTTAC	0.572													T	41620783	C	T	41620783	3	4	364	1	0	0	0	0	1	0	0	0	8651	739	26	2	1267	2	L3MBTL2	22	41620783	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45947	41620783	9683783	14837	38339											
ZC3H7B	23264	broad.mit.edu	37	chr22	41745272	41745272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcgcccacagcttcatcGagctcaaggtctggctgctg	7	10	10	14	2	3	0	2	0	1	0	5	1	3	0	1	2	3	4	1	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41745272G>A	ENST00000352645.4	+	16	2172	c.1915G>A	c.(1915-1917)Gag>Aag	p.E639K	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.E639K	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	655					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CAGCTTCATCGAGCTCAAGGT	0.657													A	41745272	G	A	41745272	3	1	364	1	0	0	0	0	1	0	0	0	17674	1059	37	1	1973	1	ZC3H7B	22	41745272	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124489	41745272	9559294	14838	38340											
TEF	7008	broad.mit.edu	37	chr22	41783660	41783660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcagccctctgaaaccGtgtccagcacaggttggtga	8	11	10	12	1	3	2	1	2	2	0	4	2	4	2	3	2	3	2	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41783660G>A	ENST00000266304.4	+	2	579	c.463G>A	c.(463-465)Gtg>Atg	p.V155M	TEF_ENST00000406644.3_Missense_Mutation_p.V125M	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	155					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CTCTGAAACCGTGTCCAGCAC	0.582													A	41783660	G	A	41783660	3	1	364	1	0	0	0	0	1	0	0	0	15850	1145	40	1	540	1	TEF	22	41783660	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38388	41783660	9520906	14839	38341											
TOB2	10766	broad.mit.edu	37	chr22	41833168	41833168	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacggggtccaccatctccCcaatgtgaacacagcggaag	11	5	10	15	2	1	1	0	1	1	0	3	2	2	2	5	3	2	0	5	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41833168C>A	ENST00000327492.3	-	2	888	c.182G>T	c.(181-183)gGg>gTg	p.G61V		NM_016272.3	NP_057356.1	Q14106	TOB2_HUMAN	transducer of ERBB2, 2	61					female gamete generation|negative regulation of cell proliferation	cytoplasm|nucleus				cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						CACCATCTCCCCAATGTGAAC	0.577													A	41833168	C	A	41833168	3	1	364	1	0	0	0	0	1	0	0	0	16448	623	22	4	856	4	TOB2	22	41833168	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49508	41833168	9471398	14840	38342											
ACO2	50	broad.mit.edu	37	chr22	41903923	41903923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgtggccatgcaggatgCgacggcccagatggccatgc	7	6	15	13	3	0	1	0	0	0	1	0	3	0	2	4	4	3	1	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41903923C>T	ENST00000396512.3	+	3	319	c.302C>T	c.(301-303)gCg>gTg	p.A101V	ACO2_ENST00000216254.4_Missense_Mutation_p.A101V			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	101					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						ATGCAGGATGCGACGGCCCAG	0.602													T	41903923	C	T	41903923	3	4	364	1	0	0	0	0	1	0	0	0	147	768	27	1	312	1	ACO2	22	41903923	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	70755	41903923	9400643	14841	38343											
ACO2	50	broad.mit.edu	37	chr22	41923906	41923906	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccgcctgctttccagaGaccaacctgaagaaacaggg	13	6	10	12	1	0	3	0	1	0	2	1	4	1	3	5	1	4	1	5	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:41923906G>T	ENST00000396512.3	+	17	2180	c.2163G>T	c.(2161-2163)gaG>gaT	p.E721D	POLR3H_ENST00000355209.4_3'UTR|POLR3H_ENST00000396504.2_3'UTR|ACO2_ENST00000216254.4_Splice_Site_p.E696D			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	696					citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						GCTTTCCAGAGACCAACCTGA	0.572													T	41923906	G	T	41923906	5	4	364	1	0	0	0	0	0	0	1	0	147	956	33	4	2154	4	ACO2	22	41923906	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19983	41923906	9380660	14842	38344											
XRCC6	2547	broad.mit.edu	37	chr22	42046725	42046725	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgtcgttcttctccttcAgatctatgggagtcgtcaga	6	15	9	11	2	5	2	2	0	3	2	8	3	5	3	2	1	0	1	2	1	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42046725A>G	ENST00000359308.4	+	7	1615		c.e7-1		XRCC6_ENST00000360079.3_Splice_Site|XRCC6_ENST00000402580.3_Splice_Site|XRCC6_ENST00000405878.1_Splice_Site|XRCC6_ENST00000428575.2_Splice_Site|XRCC6_ENST00000405506.1_Splice_Site			P12956	XRCC6_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 6						DNA ligation|double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|provirus integration|telomere maintenance|transcription, DNA-dependent	DNA-dependent protein kinase-DNA ligase 4 complex|Ku70:Ku80 complex|membrane fraction|nuclear telomere cap complex|transcription factor complex	5'-deoxyribose-5-phosphate lyase activity|ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	31						CTTCTCCTTCAGATCTATGGG	0.423								Non-homologous end-joining					G	42046725	A	G	42046725	5	3	364	1	0	0	0	0	0	0	1	0	17559	202	7	3	985	3	XRCC6	22	42046725	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	122819	42046725	9257841	14843	38345											
NHP2L1	4809	broad.mit.edu	37	chr22	42071031	42071031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacagaacaggcgatgacaGgcctggagaccccacaggct	12	4	13	12	1	0	4	0	2	0	2	0	6	0	4	3	4	1	1	3	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42071031G>T	ENST00000401959.1	-	4	609	c.293C>A	c.(292-294)cCt>cAt	p.P98H	NHP2L1_ENST00000402458.1_Missense_Mutation_p.P102H|NHP2L1_ENST00000463675.1_5'UTR|NHP2L1_ENST00000215956.5_Missense_Mutation_p.P98H|NHP2L1_ENST00000355257.3_Missense_Mutation_p.P98H	NM_005008.3	NP_004999.1	P55769	NH2L1_HUMAN	NHP2 non-histone chromosome protein 2-like 1 (S. cerevisiae)	98					nuclear mRNA splicing, via spliceosome|ribosome biogenesis	box C/D snoRNP complex|nucleoplasm|spliceosomal complex	protein binding|RNA binding			endometrium(1)|kidney(1)|lung(1)|prostate(1)	4						GGCGATGACAGGCCTGGAGAC	0.537													T	42071031	G	T	42071031	3	4	364	1	0	0	0	0	1	0	0	0	10486	1000	35	4	97	4	NHP2L1	22	42071031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24306	42071031	9233535	14844	38346											
CCDC134	79879	broad.mit.edu	37	chr22	42206291	42206291	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggacgagaagctgaaGgatggtatggtctgccctgc	9	7	14	11	1	1	2	0	1	1	1	1	5	1	4	3	4	3	2	3	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42206291G>T	ENST00000255784.5	+	4	410	c.306G>T	c.(304-306)aaG>aaT	p.K102N	CCDC134_ENST00000402061.3_Intron	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	102						extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AGAAGCTGAAGGATGGTATGG	0.617													T	42206291	G	T	42206291	3	4	364	1	0	0	0	0	1	0	0	0	2794	991	35	4	316	4	CCDC134	22	42206291	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	135260	42206291	9098275	14845	38347											
SREBF2	6721	broad.mit.edu	37	chr22	42273399	42273399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacccacactcaggctctgGccgcagtgtcctgtcattcg	6	9	10	16	2	3	0	2	0	1	0	5	0	4	0	3	2	0	3	3	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42273399G>A	ENST00000361204.4	+	8	1719	c.1553G>A	c.(1552-1554)gGc>gAc	p.G518D		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	518					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TCAGGCTCTGGCCGCAGTGTC	0.612													A	42273399	G	A	42273399	3	1	364	1	0	0	0	0	1	0	0	0	15238	1203	42	2	1583	2	SREBF2	22	42273399	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67108	42273399	9031167	14846	38348											
CENPM	79019	broad.mit.edu	37	chr22	42341982	42341982	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggggccgattcacactggaGggcaaagggagggactttgc	9	6	17	9	2	1	0	1	0	0	0	1	4	1	3	1	6	1	1	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42341982G>T	ENST00000402338.1	-	2	304	c.63C>A	c.(61-63)ccC>ccA	p.P21P	CENPM_ENST00000407253.3_Silent_p.P55P|CENPM_ENST00000215980.5_Silent_p.P55P|CENPM_ENST00000402420.1_Silent_p.P21P|CENPM_ENST00000404067.1_Silent_p.P21P			Q9NSP4	CENPM_HUMAN	centromere protein M	55					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus				kidney(1)|large_intestine(1)|prostate(1)	3						TCACACTGGAGGGCAAAGGGA	0.522													T	42341982	G	T	42341982	2	4	364	1	0	0	0	0	0	0	0	1	3267	987	35	4		4	CENPM	22	42341982	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68583	42341982	8962584	14847	38349											
FAM109B	150368	broad.mit.edu	37	chr22	42473371	42473371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccacatgggcttcctgcGcacctgggggggcccaggga	6	5	17	13	1	0	0	0	0	0	0	1	2	1	2	4	6	1	2	4	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42473371G>A	ENST00000321753.3	+	3	261	c.74G>A	c.(73-75)cGc>cAc	p.R25H		NM_001002034.2	NP_001002034.2	Q6ICB4	SESQ2_HUMAN	family with sequence similarity 109, member B	25	PH.				endosome organization|receptor recycling|retrograde transport, endosome to Golgi	clathrin-coated vesicle|early endosome|recycling endosome|trans-Golgi network	protein homodimerization activity			endometrium(2)|large_intestine(2)|liver(2)|lung(1)|prostate(1)	8						GGCTTCCTGCGCACCTGGGGG	0.622													A	42473371	G	A	42473371	3	1	364	1	0	0	0	0	1	0	0	0	5440	1087	38	1	76	1	FAM109B	22	42473371	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	131389	42473371	8831195	14848	38350											
CYP2D6	1565	broad.mit.edu	37	chr22	42523854	42523854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggctcacgctgcacatcCggatgtaggatcatgagcag	10	8	13	10	2	2	1	2	1	0	0	3	3	3	3	1	3	2	5	1	3	1	1	rs79292917	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42523854C>T	ENST00000360608.5	-	6	1089	c.975G>A	c.(973-975)ccG>ccA	p.P325P	NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.P325P|CYP2D6_ENST00000359033.4_Silent_p.P274P	NM_000106.5	NP_000097	Q6NWU0	Q6NWU0_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	325							electron carrier activity|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GCTGCACATCCGGATGTAGGA	0.627													T	42523854	C	T	42523854	2	4	364	1	0	0	0	0	0	0	0	1	4202	639	23	1		1	CYP2D6	22	42523854	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50483	42523854	8780712	14849	38351											
TCF20	6942	broad.mit.edu	37	chr22	42608017	42608017	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaaccgctgctccagtCtttatactcctctggttgct	7	13	8	13	1	2	1	0	0	2	1	4	1	4	1	3	1	5	5	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42608017C>A	ENST00000359486.3	-	1	3431	c.3295G>T	c.(3295-3297)Gac>Tac	p.D1099Y	TCF20_ENST00000335626.4_Missense_Mutation_p.D1099Y	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	1099					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTCCAGTCTTTATACTCC	0.512													A	42608017	C	A	42608017	3	1	364	1	0	0	0	0	1	0	0	0	15790	913	32	4	2625	4	TCF20	22	42608017	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	84163	42608017	8696549	14850	38352											
TCF20	6942	broad.mit.edu	37	chr22	42609038	42609038	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtggtggtggtaaccCtgaagcacttcctgcaggag	8	9	15	9	0	1	1	1	1	0	0	2	2	2	2	2	5	3	3	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42609038C>A	ENST00000359486.3	-	1	2410	c.2274G>T	c.(2272-2274)caG>caT	p.Q758H	TCF20_ENST00000335626.4_Missense_Mutation_p.Q758H	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	758					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						GGTGGTAACCCTGAAGCACTT	0.507													A	42609038	C	A	42609038	3	1	364	1	0	0	0	0	1	0	0	0	15790	680	24	4	3646	4	TCF20	22	42609038	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1021	42609038	8695528	14851	38353											
TCF20	6942	broad.mit.edu	37	chr22	42610042	42610042	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaattaggactgggcatcaTtgatggggttggactgagtt	10	12	15	4	0	1	3	1	2	0	1	1	5	1	5	0	5	0	3	0	5	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610042T>G	ENST00000359486.3	-	1	1406	c.1270A>C	c.(1270-1272)Atg>Ctg	p.M424L	TCF20_ENST00000335626.4_Missense_Mutation_p.M424L	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGGGCATCATTGATGGGGTT	0.493													G	42610042	T	G	42610042	3	3	364	1	0	0	0	0	1	0	0	0	15790	1493	52	5	4650	5	TCF20	22	42610042	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1004	42610042	8694524	14852	38354											
TCF20	6942	broad.mit.edu	37	chr22	42610433	42610433	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattcttcatagattgaggCtgatagctgtaattggattg	12	15	10	4	0	2	3	1	2	1	1	2	4	2	4	0	2	1	3	0	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42610433C>T	ENST00000359486.3	-	1	1015	c.879G>A	c.(877-879)caG>caA	p.Q293Q	TCF20_ENST00000335626.4_Silent_p.Q293Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						TAGATTGAGGCTGATAGCTGT	0.463													T	42610433	C	T	42610433	2	4	364	1	0	0	0	0	0	0	0	1	15790	796	28	2		2	TCF20	22	42610433	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	391	42610433	8694133	14853	38355											
RRP7A	27341	broad.mit.edu	37	chr22	42910712	42910712	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgatcttctggtcatatgcCtccatgaacgtgtccacttc	7	13	8	13	2	3	1	1	1	2	0	6	2	5	1	3	1	2	0	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:42910712C>T	ENST00000323013.6	-	5	549	c.534G>A	c.(532-534)gaG>gaA	p.E178E		NM_015703.4	NP_056518.2	Q9Y3A4	RRP7A_HUMAN	ribosomal RNA processing 7 homolog A (S. cerevisiae)	178							nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	10						GGTCATATGCCTCCATGAACG	0.652													T	42910712	C	T	42910712	2	4	364	1	0	0	0	0	0	0	0	1	13780	680	24	2		2	RRP7A	22	42910712	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	300279	42910712	8393854	14854	38356											
ATP5L2	267020	broad.mit.edu	37	chr22	43036038	43036038	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaccacgtcgacacctcAgtggccaccaaaccgttcag	13	6	7	15	3	2	0	2	0	0	0	3	1	2	0	5	1	2	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43036038A>G	ENST00000505920.1	-	1	569	c.243T>C	c.(241-243)acT>acC	p.T81T	CYB5R3_ENST00000352397.5_Intron|CYB5R3_ENST00000361740.4_Intron|CYB5R3_ENST00000407623.3_Intron|CYB5R3_ENST00000396303.3_Intron|CYB5R3_ENST00000402438.1_Intron	NM_001165877.1	NP_001159349.1	Q7Z4Y8	AT5L2_HUMAN	ATP synthase, H+ transporting, mitochondrial Fo complex, subunit G2	81					ATP synthesis coupled proton transport	mitochondrial proton-transporting ATP synthase complex, coupling factor F(o)	hydrogen ion transmembrane transporter activity			endometrium(1)|kidney(1)	2						TCGACACCTCAGTGGCCACCA	0.438													G	43036038	A	G	43036038	2	3	364	1	0	0	0	0	0	0	0	1	1166	175	7	3		3	ATP5L2	22	43036038	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	125326	43036038	8268528	14855	38357											
TTLL1	25809	broad.mit.edu	37	chr22	43471560	43471560	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatcagcactgacttctcGatatcagtgacccattttac	10	14	6	11	1	3	3	2	3	1	0	4	4	3	3	1	0	2	1	1	0	2	5	rs148475049	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43471560G>A	ENST00000331018.7	-	3	273	c.33C>T	c.(31-33)atC>atT	p.I11I	TTLL1_ENST00000266254.7_Silent_p.I11I|TTLL1_ENST00000445824.1_Silent_p.I11I			O95922	TTLL1_HUMAN	tubulin tyrosine ligase-like family, member 1	11	TTL.				protein polyglutamylation	cytoplasm|microtubule	ATP binding|tubulin-glutamic acid ligase activity|tubulin-tyrosine ligase activity	p.I11I(1)		breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(2)|stomach(1)	23		Ovarian(80;0.0694)		BRCA - Breast invasive adenocarcinoma(115;0.00461)		CTGACTTCTCGATATCAGTGA	0.413													A	43471560	G	A	43471560	2	1	364	1	0	0	0	0	0	0	0	1	16824	1048	37	1		1	TTLL1	22	43471560	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	435522	43471560	7833006	14856	38358											
MCAT	27349	broad.mit.edu	37	chr22	43529105	43529105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcgagggtctgcagcacatCcacggcgctgtaggacttcc	7	9	12	13	3	1	0	0	0	1	0	4	2	3	1	2	3	2	4	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529105C>T	ENST00000290429.6	-	4	1162	c.1117G>A	c.(1117-1119)Gat>Aat	p.D373N	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TGCAGCACATCCACGGCGCTG	0.617													T	43529105	C	T	43529105	3	4	364	1	0	0	0	0	1	0	0	0	9447	855	30	2	59	2	MCAT	22	43529105	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57545	43529105	7775461	14857	38359											
MCAT	27349	broad.mit.edu	37	chr22	43529484	43529484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggaattcttctggagaaaCcgtagagcctggggaaggaa	13	7	15	6	1	2	2	0	0	2	2	2	7	2	5	2	5	2	1	2	5	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43529484C>T	ENST00000327555.5	-	3	535	c.520G>A	c.(520-522)Gtt>Att	p.V174I	MCAT_ENST00000290429.6_Silent_p.R246R	NM_014507.3	NP_055322.1	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)	0					fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				TCTGGAGAAACCGTAGAGCCT	0.552													T	43529484	C	T	43529484	3	4	364	1	0	0	0	0	1	0	0	0	9447	507	18	2	438	2	MCAT	22	43529484	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	379	43529484	7775082	14858	38360											
TTLL12	23170	broad.mit.edu	37	chr22	43568470	43568470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaggggcctcactgaccGcagcagcacgatgtagcgga	9	5	14	13	4	1	1	1	1	0	0	1	3	1	2	3	3	3	5	3	3	2	2	rs11554504		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43568470G>A	ENST00000216129.6	-	10	1495	c.1432C>T	c.(1432-1434)Cgg>Tgg	p.R478W		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	478	TTL.				protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CTCACTGACCGCAGCAGCACG	0.577													A	43568470	G	A	43568470	3	1	364	1	0	0	0	0	1	0	0	0	16827	1086	38	1	522	1	TTLL12	22	43568470	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38986	43568470	7736096	14859	38361											
TTLL12	23170	broad.mit.edu	37	chr22	43576899	43576899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctgctgcagctgctggCgcgcgtgctccacacggcac	5	6	13	17	4	0	0	0	0	0	0	1	0	1	0	2	2	5	7	2	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43576899C>T	ENST00000216129.6	-	3	458	c.395G>A	c.(394-396)cGc>cAc	p.R132H		NM_015140.3	NP_055955.1	Q14166	TTL12_HUMAN	tubulin tyrosine ligase-like family, member 12	132					protein modification process		tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)	13		Ovarian(80;0.221)|Glioma(61;0.222)				CAGCTGCTGGCGCGCGTGCTC	0.667													T	43576899	C	T	43576899	3	4	364	1	0	0	0	0	1	0	0	0	16827	768	27	1	1587	1	TTLL12	22	43576899	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8429	43576899	7727667	14860	38362											
SCUBE1	80274	broad.mit.edu	37	chr22	43606935	43606935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcacccacttttgcaGtgtgtgacgttggtggagcc	7	10	13	11	1	0	1	0	1	0	0	0	2	0	2	2	2	4	4	2	2	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43606935G>A	ENST00000360835.4	-	18	2502	c.2376C>T	c.(2374-2376)caC>caT	p.H792H		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CACTTTTGCAGTGTGTGACGT	0.637													A	43606935	G	A	43606935	2	1	364	1	0	0	0	0	0	0	0	1	14037	1020	36	2		2	SCUBE1	22	43606935	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30036	43606935	7697631	14861	38363											
SCUBE1	80274	broad.mit.edu	37	chr22	43654256	43654256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaccgtctgagtggagggcGtacttctggtggcaaccaca	8	8	14	11	3	2	1	0	1	2	0	2	3	2	2	2	4	2	2	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43654256G>A	ENST00000360835.4	-	6	822	c.696C>T	c.(694-696)taC>taT	p.Y232Y	SCUBE1_ENST00000290460.7_Silent_p.Y232Y	NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1						adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				AGTGGAGGGCGTACTTCTGGT	0.617													A	43654256	G	A	43654256	2	1	364	1	0	0	0	0	0	0	0	1	14037	1140	40	1		1	SCUBE1	22	43654256	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47321	43654256	7650310	14862	38364											
MPPED1	758	broad.mit.edu	37	chr22	43821091	43821091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcccagtcccacgtgatgGccgctcggcggcaccagcac	6	6	11	18	4	1	1	0	1	1	0	4	1	2	1	4	3	1	3	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43821091G>A	ENST00000417669.2	+	2	544	c.100G>A	c.(100-102)Gcc>Acc	p.A34T	MPPED1_ENST00000542779.1_Missense_Mutation_p.A34T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000443721.1_Missense_Mutation_p.A34T|MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.A67T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CCACGTGATGGCCGCTCGGCG	0.662													A	43821091	G	A	43821091	3	1	364	1	0	0	0	0	1	0	0	0	9817	1203	42	2	102	2	MPPED1	22	43821091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	166835	43821091	7483475	14863	38365											
EFCAB6	64800	broad.mit.edu	37	chr22	43926799	43926799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaattttgggctgaatacGcagcagagcagagtaaaaag	16	7	11	7	1	0	3	0	1	0	2	0	3	0	3	0	1	3	5	0	1	6	4	rs144891068		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:43926799G>A	ENST00000262726.7	-	31	4532	c.4279C>T	c.(4279-4281)Cgt>Tgt	p.R1427C	EFCAB6_ENST00000461800.1_5'UTR|EFCAB6-AS1_ENST00000431327.3_RNA|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R1275C	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1427	Interaction with AR.|Interaction with PARK7.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				GGCTGAATACGCAGCAGAGCA	0.542													A	43926799	G	A	43926799	3	1	364	1	0	0	0	0	1	0	0	0	4978	1087	38	1	234	1	EFCAB6	22	43926799	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105708	43926799	7377767	14864	38366											
EFCAB6	64800	broad.mit.edu	37	chr22	44022455	44022455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcgctcaaactcgtcGtctttgagattaagcagtag	12	10	11	8	3	2	1	1	1	1	1	4	3	2	2	0	1	3	3	0	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44022455G>A	ENST00000262726.7	-	20	2590	c.2337C>T	c.(2335-2337)gaC>gaT	p.D779D	EFCAB6_ENST00000396231.2_Silent_p.D627D	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CAAACTCGTCGTCTTTGAGAT	0.433													A	44022455	G	A	44022455	2	1	364	1	0	0	0	0	0	0	0	1	4978	1136	40	1		1	EFCAB6	22	44022455	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	95656	44022455	7282111	14865	38367											
EFCAB6	64800	broad.mit.edu	37	chr22	44079661	44079661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgctttcttcagtgacGcagagtgatcttcagtgtgt	8	15	11	7	1	4	3	2	2	2	1	4	3	4	3	0	0	1	3	0	0	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44079661G>A	ENST00000262726.7	-	12	1470	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.A254V	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	406	EF-hand 4.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				CTTCAGTGACGCAGAGTGATC	0.363													A	44079661	G	A	44079661	3	1	364	1	0	0	0	0	1	0	0	0	4978	1087	38	1	3372	1	EFCAB6	22	44079661	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57206	44079661	7224905	14866	38368											
EFCAB6	64800	broad.mit.edu	37	chr22	44083420	44083420	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcatgaaatgatgttagaAattgcttccaattgatttta	13	16	7	5	0	1	4	1	3	0	1	2	4	2	4	1	0	1	3	1	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44083420A>G	ENST00000262726.7	-	11	1326	c.1073T>C	c.(1072-1074)tTt>tCt	p.F358S	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.F206S	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	358					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TGATGTTAGAAATTGCTTCCA	0.299													G	44083420	A	G	44083420	3	3	364	1	0	0	0	0	1	0	0	0	4978	14	1	3	3520	3	EFCAB6	22	44083420	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3759	44083420	7221146	14867	38369											
PNPLA5	150379	broad.mit.edu	37	chr22	44277523	44277523	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctgcatccaccacaagtCcgccggcacatcgggcagcc	8	4	10	19	3	0	0	0	0	0	0	3	0	2	0	6	2	2	3	6	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44277523C>A	ENST00000216177.4	-	8	1246	c.1114G>T	c.(1114-1116)Gac>Tac	p.D372Y	PNPLA5_ENST00000381198.2_Missense_Mutation_p.D258Y|PNPLA5_ENST00000597664.1_Missense_Mutation_p.D372Y|PNPLA5_ENST00000593866.1_Missense_Mutation_p.D258Y	NM_138814.3	NP_620169.1	Q7Z6Z6	PLPL5_HUMAN	patatin-like phospholipase domain containing 5	372					lipid catabolic process		hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)	16		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				CACCACAAGTCCGCCGGCACA	0.662													A	44277523	C	A	44277523	3	1	364	1	0	0	0	0	1	0	0	0	12245	855	30	4	183	4	PNPLA5	22	44277523	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194103	44277523	7027043	14868	38370											
PNPLA3	80339	broad.mit.edu	37	chr22	44328962	44328962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttttgtccccccggatCtcaaggtgagttggtggtga	6	12	14	9	1	1	2	1	2	1	0	3	4	2	3	3	4	1	2	3	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44328962C>A	ENST00000216180.3	+	4	864	c.691C>A	c.(691-693)Ctc>Atc	p.L231I	PNPLA3_ENST00000423180.2_Missense_Mutation_p.L227I|PNPLA3_ENST00000478713.1_3'UTR	NM_025225.2	NP_079501.2	Q9NST1	PLPL3_HUMAN	patatin-like phospholipase domain containing 3	231					triglyceride biosynthetic process|triglyceride catabolic process	integral to membrane	diolein transacylation activity|mono-olein transacylation activity|phospholipase A2 activity|triglyceride lipase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|prostate(1)|skin(1)|stomach(2)	19		Ovarian(80;0.024)|all_neural(38;0.0416)				CCCCCCGGATCTCAAGGTGAG	0.537													A	44328962	C	A	44328962	3	1	364	1	0	0	0	0	1	0	0	0	12243	913	32	4	705	4	PNPLA3	22	44328962	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	51439	44328962	6975604	14869	38371											
SAMM50	25813	broad.mit.edu	37	chr22	44360381	44360381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggaaggactaaagatgAtatcatcatttgtgaaattg	15	13	9	4	0	2	3	2	2	0	1	2	5	2	5	0	2	0	0	0	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44360381A>G	ENST00000350028.4	+	3	339	c.182A>G	c.(181-183)gAt>gGt	p.D61G	SAMM50_ENST00000396202.3_5'UTR|SAMM50_ENST00000493161.1_3'UTR	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	61					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				ACTAAAGATGATATCATCATT	0.398													G	44360381	A	G	44360381	3	3	364	1	0	0	0	0	1	0	0	0	13920	333	12	3	192	3	SAMM50	22	44360381	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31419	44360381	6944185	14870	38372											
LDOC1L	84247	broad.mit.edu	37	chr22	44892750	44892750	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgggcaggcagggctggCgctggactagtcccgttgga	5	7	18	11	3	0	0	0	0	0	0	2	2	1	2	1	6	0	6	1	6	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892750C>T	ENST00000341255.3	-	2	1196	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	229										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		GCAGGGCTGGCGCTGGACTAG	0.617													T	44892750	C	T	44892750	2	4	364	1	0	0	0	0	0	0	0	1	8769	755	27	1		1	LDOC1L	22	44892750	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	532369	44892750	6411816	14871	38373											
LDOC1L	84247	broad.mit.edu	37	chr22	44892773	44892773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggactagtcccgttggaagCtggatgcactgggcaaggcc	8	8	15	10	1	0	0	0	0	0	0	1	3	1	3	2	5	2	4	2	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:44892773C>T	ENST00000341255.3	-	2	1173	c.664G>A	c.(664-666)Gct>Act	p.A222T		NM_032287.2	NP_115663.2	Q6ICC9	LDOCL_HUMAN	leucine zipper, down-regulated in cancer 1-like	222										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(3)|prostate(2)	11		Ovarian(80;0.024)|all_neural(38;0.0416)		LUAD - Lung adenocarcinoma(64;0.0161)		CCGTTGGAAGCTGGATGCACT	0.617													T	44892773	C	T	44892773	3	4	364	1	0	0	0	0	1	0	0	0	8769	797	28	2	59	2	LDOC1L	22	44892773	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23	44892773	6411793	14872	38374											
PRR5	55615	broad.mit.edu	37	chr22	45110540	45110540	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggagctcttcagcctcaaCgagggcgtccggtgagtgcc	7	7	14	13	3	3	1	2	1	1	0	4	3	4	2	3	3	4	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45110540C>T	ENST00000403581.1	+	4	882	c.273C>T	c.(271-273)aaC>aaT	p.N91N	PRR5_ENST00000006251.7_Silent_p.N59N|PRR5-ARHGAP8_ENST00000352766.7_Silent_p.N68N|ARHGAP8_ENST00000517296.3_Silent_p.N68N|PRR5_ENST00000336985.6_Silent_p.N68N|PRR5-ARHGAP8_ENST00000361473.5_Silent_p.N68N|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Silent_p.N59N	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		TCAGCCTCAACGAGGGCGTCC	0.662													T	45110540	C	T	45110540	2	4	364	1	0	0	0	0	0	0	0	1	12685	535	19	1		1	PRR5	22	45110540	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	217767	45110540	6194026	14873	38375											
PHF21B	112885	broad.mit.edu	37	chr22	45309846	45309846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggctgaatgatgatgacctgGaagatgccatggaggggtga	11	8	17	5	0	0	6	0	5	0	1	0	8	0	8	2	5	1	1	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45309846G>A	ENST00000313237.5	-	5	837	c.687C>T	c.(685-687)ttC>ttT	p.F229F	PHF21B_ENST00000404079.2_Intron|PHF21B_ENST00000447824.3_Intron|PHF21B_ENST00000396103.3_Intron|PHF21B_ENST00000403565.1_Intron	NM_138415.4	NP_612424.1	Q96EK2	PF21B_HUMAN	PHD finger protein 21B	229							zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(14)|ovary(2)|prostate(1)|skin(2)	25		all_neural(38;0.00802)|Glioma(61;0.0353)|Ovarian(80;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0203)		TGATGACCTGGAAGATGCCAT	0.647													A	45309846	G	A	45309846	2	1	364	1	0	0	0	0	0	0	0	1	11911	1165	41	2		2	PHF21B	22	45309846	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199306	45309846	5994720	14874	38376											
UPK3A	7380	broad.mit.edu	37	chr22	45681909	45681909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttggaaaagcctctctGcatgtttgacagcaaagagg	11	9	12	9	0	1	2	0	1	1	1	2	3	1	3	2	3	3	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45681909G>A	ENST00000216211.4	+	2	172	c.140G>A	c.(139-141)tGc>tAc	p.C47Y	UPK3A_ENST00000396082.2_Missense_Mutation_p.C47Y	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	47					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		AAGCCTCTCTGCATGTTTGAC	0.572													A	45681909	G	A	45681909	3	1	364	1	0	0	0	0	1	0	0	0	17112	1319	46	2	146	2	UPK3A	22	45681909	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	372063	45681909	5622657	14875	38377											
UPK3A	7380	broad.mit.edu	37	chr22	45689190	45689190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgccattgccctcagcCtcgtgtaagtacctgcctgc	5	10	10	16	2	1	0	1	0	0	0	2	0	1	0	5	1	5	2	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45689190C>A	ENST00000216211.4	+	5	732	c.700C>A	c.(700-702)Ctc>Atc	p.L234I	UPK3A_ENST00000396082.2_Missense_Mutation_p.L113I	NM_006953.3	NP_008884.1	O75631	UPK3A_HUMAN	uroplakin 3A	234					epithelial cell differentiation	endoplasmic reticulum membrane|integral to membrane				kidney(1)|large_intestine(1)|lung(2)|skin(1)	5		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGCCCTCAGCCTCGTGTAAGT	0.627													A	45689190	C	A	45689190	3	1	364	1	0	0	0	0	1	0	0	0	17112	681	24	4	718	4	UPK3A	22	45689190	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7281	45689190	5615376	14876	38378											
FAM118A	55007	broad.mit.edu	37	chr22	45728465	45728465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggagaatgaagaccatTtctttaagcatcaggcagat	15	10	10	6	0	2	5	1	2	1	3	2	6	2	5	1	2	1	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45728465T>C	ENST00000216214.3	+	7	1645	c.811T>C	c.(811-813)Ttc>Ctc	p.F271L	FAM118A_ENST00000405548.3_Missense_Mutation_p.F89L|FAM118A_ENST00000441876.2_Missense_Mutation_p.F271L	NM_001104595.1	NP_001098065.1	Q9NWS6	F118A_HUMAN	family with sequence similarity 118, member A	271						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		TGAAGACCATTTCTTTAAGCA	0.463													C	45728465	T	C	45728465	3	2	364	1	0	0	0	0	1	0	0	0	5456	1841	64	3	829	3	FAM118A	22	45728465	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	39275	45728465	5576101	14877	38379											
SMC1B	27127	broad.mit.edu	37	chr22	45768173	45768173	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtgtcttcattaaaccCtaaaaggaaagaaaaacatg	18	8	8	7	1	2	1	1	0	1	1	2	3	2	3	1	2	2	0	1	2	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45768173C>A	ENST00000357450.4	-	13	2058		c.e13-1		SMC1B_ENST00000404354.3_Splice_Site	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B						chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCATTAAACCCTAAAAGGAAA	0.318													A	45768173	C	A	45768173	5	1	364	1	0	0	0	0	0	0	1	0	14876	695	24	4	1701	4	SMC1B	22	45768173	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39708	45768173	5536393	14878	38380											
SMC1B	27127	broad.mit.edu	37	chr22	45779484	45779484	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaataatgttccatcaaGagctactgtctgtaaaagta	17	12	6	6	0	2	1	1	0	1	1	3	1	3	1	1	0	2	4	1	0	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45779484G>T	ENST00000357450.4	-	12	1920	c.1921C>A	c.(1921-1923)Ctt>Att	p.L641I	SMC1B_ENST00000404354.3_Missense_Mutation_p.L641I	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	641	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GTTCCATCAAGAGCTACTGTC	0.318													T	45779484	G	T	45779484	3	4	364	1	0	0	0	0	1	0	0	0	14876	942	33	4	1842	4	SMC1B	22	45779484	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11311	45779484	5525082	14879	38381											
SMC1B	27127	broad.mit.edu	37	chr22	45785689	45785689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttttcagaggctacaacaAtggcagtgatgaaccggcca	12	8	10	11	1	1	3	1	2	0	1	1	3	1	3	3	3	3	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45785689A>G	ENST00000357450.4	-	10	1633	c.1634T>C	c.(1633-1635)aTt>aCt	p.I545T	SMC1B_ENST00000404354.3_Missense_Mutation_p.I545T	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	545	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		GGCTACAACAATGGCAGTGAT	0.413													G	45785689	A	G	45785689	3	3	364	1	0	0	0	0	1	0	0	0	14876	101	4	3	2137	3	SMC1B	22	45785689	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6205	45785689	5518877	14880	38382											
SMC1B	27127	broad.mit.edu	37	chr22	45802461	45802461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttttcttcatattctccTataagctctcctgaagtgct	7	19	4	11	0	5	1	1	1	4	0	7	1	5	1	2	0	2	2	2	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45802461T>C	ENST00000357450.4	-	4	494	c.495A>G	c.(493-495)atA>atG	p.I165M	SMC1B_ENST00000404354.3_Missense_Mutation_p.I165M	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	165					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		CATATTCTCCTATAAGCTCTC	0.358													C	45802461	T	C	45802461	3	2	364	1	0	0	0	0	1	0	0	0	14876	1512	53	3	3300	3	SMC1B	22	45802461	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	16772	45802461	5502105	14881	38383											
RIBC2	26150	broad.mit.edu	37	chr22	45826798	45826798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggctccaggaagaaaagCgccagcgagacctggactgg	13	3	15	10	2	0	3	0	0	0	3	1	6	1	5	3	4	2	1	3	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:45826798C>T	ENST00000342894.3	+	6	1117	c.703C>T	c.(703-705)Cgc>Tgc	p.R235C	RIBC2_ENST00000538017.1_Missense_Mutation_p.R303C|RIBC2_ENST00000466226.1_3'UTR			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	235										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GGAAGAAAAGCGCCAGCGAGA	0.652													T	45826798	C	T	45826798	3	4	364	1	0	0	0	0	1	0	0	0	13442	768	27	1	928	1	RIBC2	22	45826798	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24337	45826798	5477768	14882	38384											
ATXN10	25814	broad.mit.edu	37	chr22	46125390	46125390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctgtgtttttgcggcatGctgagttgattgcaagcacc	6	14	11	10	1	0	2	0	2	0	0	1	2	1	2	2	1	4	6	2	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46125390G>A	ENST00000252934.5	+	7	1079	c.814G>A	c.(814-816)Gct>Act	p.A272T	ATXN10_ENST00000381061.4_Missense_Mutation_p.A208T	NM_013236.3	NP_037368.1	Q9UBB4	ATX10_HUMAN	ataxin 10	272					cell death|neuron projection development	dendrite|neuronal cell body|perinuclear region of cytoplasm				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	10		Ovarian(80;0.00973)|all_neural(38;0.0417)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0223)		TTTGCGGCATGCTGAGTTGAT	0.478													A	46125390	G	A	46125390	3	1	364	1	0	0	0	0	1	0	0	0	1215	1319	46	2	840	2	ATXN10	22	46125390	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	298592	46125390	5179176	14883	38385											
PPARA	5465	broad.mit.edu	37	chr22	46594465	46594465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtatttaggaagctgtcctgGctcagatggctcggtcatca	8	12	12	9	1	3	1	3	0	0	1	5	2	4	2	1	4	1	4	1	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46594465G>A	ENST00000396000.2	+	3	450	c.185G>A	c.(184-186)gGc>gAc	p.G62D	PPARA_ENST00000262735.5_Missense_Mutation_p.G62D|PPARA_ENST00000402126.1_Missense_Mutation_p.G62D|PPARA_ENST00000434345.2_Missense_Mutation_p.G62D|PPARA_ENST00000407236.1_Missense_Mutation_p.G62D			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	62					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	AGCTGTCCTGGCTCAGATGGC	0.418													A	46594465	G	A	46594465	3	1	364	1	0	0	0	0	1	0	0	0	12374	1203	42	2	187	2	PPARA	22	46594465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469075	46594465	4710101	14884	38386											
PPARA	5465	broad.mit.edu	37	chr22	46614215	46614215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgacaagtgcgaccgcaGctgcaagatccagaaaaaga	16	5	11	9	2	0	4	0	1	0	3	1	5	1	4	2	0	3	4	2	0	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46614215G>T	ENST00000396000.2	+	5	690	c.425G>T	c.(424-426)aGc>aTc	p.S142I	PPARA_ENST00000262735.5_Missense_Mutation_p.S142I|PPARA_ENST00000402126.1_Missense_Mutation_p.S142I|PPARA_ENST00000434345.2_Missense_Mutation_p.S142I|PPARA_ENST00000407236.1_Missense_Mutation_p.S142I			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	142					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	TGCGACCGCAGCTGCAAGATC	0.493													T	46614215	G	T	46614215	3	4	364	1	0	0	0	0	1	0	0	0	12374	971	34	4	435	4	PPARA	22	46614215	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19750	46614215	4690351	14885	38387											
PKDREJ	10343	broad.mit.edu	37	chr22	46652821	46652821	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgttctggaaagctgaGacacaataggaaaatactgt	15	10	10	6	0	2	1	1	1	1	1	2	4	2	3	0	2	2	2	0	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46652821G>T	ENST00000253255.5	-	1	6398	c.6399C>A	c.(6397-6399)gtC>gtA	p.V2133V		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2133					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		GGAAAGCTGAGACACAATAGG	0.413													T	46652821	G	T	46652821	2	4	364	1	0	0	0	0	0	0	0	1	12047	929	33	4		4	PKDREJ	22	46652821	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38606	46652821	4651745	14886	38388											
PKDREJ	10343	broad.mit.edu	37	chr22	46654856	46654856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctttagatccgcttgaGgtttcctctgggaacaggtg	6	13	11	11	1	1	2	0	1	1	1	4	3	4	3	4	3	1	2	4	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46654856G>A	ENST00000253255.5	-	1	4363	c.4364C>T	c.(4363-4365)cCt>cTt	p.P1455L		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1455					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCCGCTTGAGGTTTCCTCTG	0.383													A	46654856	G	A	46654856	3	1	364	1	0	0	0	0	1	0	0	0	12047	1000	35	2	2401	2	PKDREJ	22	46654856	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2035	46654856	4649710	14887	38389											
PKDREJ	10343	broad.mit.edu	37	chr22	46655314	46655314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctaggcgatcgaccctcGttgttgtgccacacacggat	8	9	11	13	4	0	0	0	0	0	0	2	3	0	1	2	2	2	3	2	2	1	3	rs150338973	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46655314G>A	ENST00000253255.5	-	1	3905	c.3906C>T	c.(3904-3906)aaC>aaT	p.N1302N		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	1302	PLAT.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		ATCGACCCTCGTTGTTGTGCC	0.453													A	46655314	G	A	46655314	2	1	364	1	0	0	0	0	0	0	0	1	12047	1136	40	1		1	PKDREJ	22	46655314	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	458	46655314	4649252	14888	38390											
TTC38	55020	broad.mit.edu	37	chr22	46677495	46677495	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccccgcaccctgcgtaGgctttatctattaacccgac	7	12	6	16	3	2	0	0	0	2	0	3	1	3	0	4	1	2	3	4	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46677495G>T	ENST00000381031.3	+	7	691		c.e7-1		TTC38_ENST00000445282.2_Splice_Site	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38								binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						ACCCTGCGTAGGCTTTATCTA	0.577													T	46677495	G	T	46677495	5	4	364	1	0	0	0	0	0	0	1	0	16808	1014	35	4	641	4	TTC38	22	46677495	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22181	46677495	4627071	14889	38391											
TTC38	55020	broad.mit.edu	37	chr22	46684453	46684453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgacccccagaccacacaGgagctgctgaccaccctgcg	10	3	9	19	2	0	2	0	1	0	1	0	4	0	3	5	1	3	2	5	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46684453G>A	ENST00000381031.3	+	11	1126	c.1050G>A	c.(1048-1050)caG>caA	p.Q350Q	TTC38_ENST00000445282.2_Silent_p.Q292Q	NM_017931.2	NP_060401	Q5R3I4	TTC38_HUMAN	tetratricopeptide repeat domain 38	350							binding			endometrium(4)|large_intestine(3)|lung(4)|ovary(1)	12						AGACCACACAGGAGCTGCTGA	0.662													A	46684453	G	A	46684453	2	1	364	1	0	0	0	0	0	0	0	1	16808	991	35	2		2	TTC38	22	46684453	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6958	46684453	4620113	14890	38392											
GTSE1	51512	broad.mit.edu	37	chr22	46704226	46704226	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaatagtgcaaatgaaGatgatgaagtcttcttcgga	17	10	9	5	1	2	4	0	3	2	1	3	5	2	5	0	1	2	1	0	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704226G>T	ENST00000454366.1	+	4	360	c.148G>T	c.(148-150)Gat>Tat	p.D50Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	31					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		TGCAAATGAAGATGATGAAGT	0.393													T	46704226	G	T	46704226	3	4	364	1	0	0	0	0	1	0	0	0	6940	942	33	4	158	4	GTSE1	22	46704226	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19773	46704226	4600340	14891	38393											
GTSE1	51512	broad.mit.edu	37	chr22	46704517	46704517	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaattaaaaataaacCtctttgagaaagaaaaggaa	23	8	6	4	0	2	2	1	1	1	2	2	4	2	3	1	1	1	0	1	1	11	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46704517C>A	ENST00000454366.1	+	4	651	c.439C>A	c.(439-441)Ctc>Atc	p.L147I		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	128					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		AAAAATAAACCTCTTTGAGAA	0.517													A	46704517	C	A	46704517	3	1	364	1	0	0	0	0	1	0	0	0	6940	681	24	4	449	4	GTSE1	22	46704517	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291	46704517	4600049	14892	38394											
GTSE1	51512	broad.mit.edu	37	chr22	46712304	46712304	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttaaaattcctaagttttCtattggtgagtaatagatac	14	17	6	4	0	1	2	0	1	1	1	2	2	2	2	1	1	1	2	1	1	7	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46712304C>A	ENST00000454366.1	+	7	1639	c.1427C>A	c.(1426-1428)tCt>tAt	p.S476Y		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	457					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.S457Y(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CCTAAGTTTTCTATTGGTGAG	0.294													A	46712304	C	A	46712304	3	1	364	1	0	0	0	0	1	0	0	0	6940	913	32	4	1449	4	GTSE1	22	46712304	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7787	46712304	4592262	14893	38395											
TRMU	55687	broad.mit.edu	37	chr22	46733779	46733779	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcttacagagtttgccaGatcttagacatccctttcca	10	13	7	11	0	1	3	0	0	1	3	3	4	3	3	3	0	3	2	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46733779G>T	ENST00000290846.4	+	2	526	c.186G>T	c.(184-186)caG>caT	p.Q62H	TRMU_ENST00000381019.3_Missense_Mutation_p.Q62H|TRMU_ENST00000424260.2_Missense_Mutation_p.Q27H	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	62						mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		GAGTTTGCCAGATCTTAGACA	0.478													T	46733779	G	T	46733779	3	4	364	1	0	0	0	0	1	0	0	0	16672	933	33	4	192	4	TRMU	22	46733779	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21475	46733779	4570787	14894	38396											
CELSR1	9620	broad.mit.edu	37	chr22	46765670	46765670	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagaagtcggggttcccGtagccctgggggtccaggcc	6	6	16	13	2	0	1	0	0	0	1	3	1	2	1	4	5	2	3	4	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46765670G>A	ENST00000262738.3	-	26	7790	c.7791C>T	c.(7789-7791)taC>taT	p.Y2597Y		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2597					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CGGGGTTCCCGTAGCCCTGGG	0.637													A	46765670	G	A	46765670	2	1	364	1	0	0	0	0	0	0	0	1	3251	1140	40	1		1	CELSR1	22	46765670	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31891	46765670	4538896	14895	38397											
CELSR1	9620	broad.mit.edu	37	chr22	46774548	46774548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggctgcactggcaggcGacatgtgtccggttcctgga	5	10	16	10	2	0	0	0	0	0	0	2	2	2	1	2	5	1	4	2	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46774548G>A	ENST00000262738.3	-	23	7322	c.7323C>T	c.(7321-7323)gtC>gtT	p.V2441V		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2441	GPS.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ACTGGCAGGCGACATGTGTCC	0.657													A	46774548	G	A	46774548	2	1	364	1	0	0	0	0	0	0	0	1	3251	1045	37	1		1	CELSR1	22	46774548	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8878	46774548	4530018	14896	38398											
CELSR1	9620	broad.mit.edu	37	chr22	46930126	46930126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacctggatttctaccgagGcgctaaggggagtgggactg	8	9	15	9	2	2	0	1	0	1	0	2	4	2	3	2	5	1	1	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930126G>A	ENST00000262738.3	-	1	2941	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	CELSR1_ENST00000395964.1_Missense_Mutation_p.A981V	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	981	Cadherin 7.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TTCTACCGAGGCGCTAAGGGG	0.567													A	46930126	G	A	46930126	3	1	364	1	0	0	0	0	1	0	0	0	3251	1203	42	2	6242	2	CELSR1	22	46930126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	155578	46930126	4374440	14897	38399											
CELSR1	9620	broad.mit.edu	37	chr22	46930540	46930540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccatcatggtgtacatgGtgccactgtcggggtcaatg	7	11	13	10	1	2	0	2	0	0	0	4	0	3	0	2	4	2	2	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46930540G>A	ENST00000262738.3	-	1	2527	c.2528C>T	c.(2527-2529)aCc>aTc	p.T843I	CELSR1_ENST00000395964.1_Missense_Mutation_p.T843I	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	843	Cadherin 6.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGTGTACATGGTGCCACTGTC	0.582													A	46930540	G	A	46930540	3	1	364	1	0	0	0	0	1	0	0	0	3251	1261	44	2	6656	2	CELSR1	22	46930540	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	414	46930540	4374026	14898	38400											
CELSR1	9620	broad.mit.edu	37	chr22	46931795	46931795	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttggcctccaccaggaGctggtactcggccgcctcct	4	9	12	16	3	0	0	0	0	0	0	4	1	2	1	6	4	2	3	6	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:46931795G>A	ENST00000262738.3	-	1	1272	c.1273C>T	c.(1273-1275)Ctc>Ttc	p.L425F	CELSR1_ENST00000395964.1_Missense_Mutation_p.L425F	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	425	Cadherin 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCCACCAGGAGCTGGTACTCG	0.682													A	46931795	G	A	46931795	3	1	364	1	0	0	0	0	1	0	0	0	3251	971	34	2	7911	2	CELSR1	22	46931795	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1255	46931795	4372771	14899	38401											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189693	47189693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccccagcggcgacctcCggctggtgaagtcggtcagt	6	6	13	16	4	1	1	1	1	0	0	3	2	2	1	5	4	1	1	5	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47189693C>T	ENST00000337137.4	+	3	581	c.415C>T	c.(415-417)Cgg>Tgg	p.R139W	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R120W|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R92W|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R139W	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	139						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGGCGACCTCCGGCTGGTGAA	0.667													T	47189693	C	T	47189693	3	4	364	1	0	0	0	0	1	0	0	0	15708	643	23	1	425	1	TBC1D22A	22	47189693	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	257898	47189693	4114873	14900	38402											
TBC1D22A	25771	broad.mit.edu	37	chr22	47290699	47290699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccacatagacatccctcGcatgagccctgaagcgttga	11	8	9	13	2	0	4	0	3	0	1	3	5	2	4	3	0	2	2	3	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290699G>A	ENST00000337137.4	+	7	1023	c.857G>A	c.(856-858)cGc>cAc	p.R286H	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R208H|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R239H|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R227H	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	286	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACATCCCTCGCATGAGCCCT	0.502													A	47290699	G	A	47290699	3	1	364	1	0	0	0	0	1	0	0	0	15708	1087	38	1	883	1	TBC1D22A	22	47290699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	101006	47290699	4013867	14901	38403											
TBC1D22A	25771	broad.mit.edu	37	chr22	47290733	47290733	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgttgatcctgcagcccaaGgtgacggaggtaagaagctc	10	7	14	10	2	0	3	0	2	0	1	2	4	1	4	2	3	3	4	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:47290733G>T	ENST00000337137.4	+	7	1057	c.891G>T	c.(889-891)aaG>aaT	p.K297N	TBC1D22A_ENST00000380995.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.K219N|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.K250N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.K238N	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	297	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		TGCAGCCCAAGGTGACGGAGG	0.557													T	47290733	G	T	47290733	3	4	364	1	0	0	0	0	1	0	0	0	15708	991	35	4	917	4	TBC1D22A	22	47290733	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34	47290733	4013833	14902	38404											
BRD1	23774	broad.mit.edu	37	chr22	50192750	50192750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttggcagccttcatCtcctcatcattttctctctg	4	19	4	14	0	7	0	3	0	4	0	10	0	7	0	2	1	1	1	2	1	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50192750C>A	ENST00000216267.8	-	3	2028	c.1542G>T	c.(1540-1542)gaG>gaT	p.E514D	BRD1_ENST00000457780.2_Missense_Mutation_p.E514D|BRD1_ENST00000404034.1_Missense_Mutation_p.E514D|BRD1_ENST00000542442.1_Missense_Mutation_p.E207D|BRD1_ENST00000404760.1_Missense_Mutation_p.E514D|BRD1_ENST00000342989.5_Missense_Mutation_p.E109D	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	514					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CAGCCTTCATCTCCTCATCAT	0.572													A	50192750	C	A	50192750	3	1	364	1	0	0	0	0	1	0	0	0	1510	912	32	4	1674	4	BRD1	22	50192750	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2902017	50192750	1111816	14903	38405											
ZBED4	9889	broad.mit.edu	37	chr22	50277948	50277948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacttgtccagaaagtggCgtctaagatcccgtcccccg	10	8	9	14	3	1	2	0	0	1	2	4	2	4	2	4	1	1	0	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50277948C>T	ENST00000216268.5	+	2	1115	c.638C>T	c.(637-639)gCg>gTg	p.A213V		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		CAGAAAGTGGCGTCTAAGATC	0.552													T	50277948	C	T	50277948	3	4	364	1	0	0	0	0	1	0	0	0	17621	768	27	1	640	1	ZBED4	22	50277948	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	85198	50277948	1026618	14904	38406											
ZBED4	9889	broad.mit.edu	37	chr22	50278317	50278317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacatgtggagggcacaccGcgccatcgtgttgcaggaga	9	6	15	11	3	0	1	0	0	0	1	1	3	0	2	2	3	1	4	2	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278317G>A	ENST00000216268.5	+	2	1484	c.1007G>A	c.(1006-1008)cGc>cAc	p.R336H		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGGGCACACCGCGCCATCGTG	0.637													A	50278317	G	A	50278317	3	1	364	1	0	0	0	0	1	0	0	0	17621	1087	38	1	1009	1	ZBED4	22	50278317	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	369	50278317	1026249	14905	38407											
ZBED4	9889	broad.mit.edu	37	chr22	50278552	50278552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggaagacgtggcggccttCtcatcttccgatgacatagg	9	10	12	10	3	2	2	1	1	2	1	4	4	3	3	2	4	0	0	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50278552C>A	ENST00000216268.5	+	2	1719	c.1242C>A	c.(1240-1242)ttC>ttA	p.F414L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		TGGCGGCCTTCTCATCTTCCG	0.587													A	50278552	C	A	50278552	3	1	364	1	0	0	0	0	1	0	0	0	17621	912	32	4	1244	4	ZBED4	22	50278552	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	235	50278552	1026014	14906	38408											
ZBED4	9889	broad.mit.edu	37	chr22	50279298	50279298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaaatcacaagtctcatagCtgaaatgattgcacttgacc	16	10	6	9	0	2	3	2	3	1	0	3	3	2	3	1	0	2	2	1	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279298C>G	ENST00000216268.5	+	2	2465	c.1988C>G	c.(1987-1989)gCt>gGt	p.A663G		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AGTCTCATAGCTGAAATGATT	0.458													G	50279298	C	G	50279298	3	3	364	1	0	0	0	0	1	0	0	0	17621	797	28	4	1990	4	ZBED4	22	50279298	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	746	50279298	1025268	14907	38409											
ZBED4	9889	broad.mit.edu	37	chr22	50279546	50279546	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccgtgagtacctgaccCtcacggcccactgggtttcc	7	8	10	16	2	1	3	1	2	0	1	2	3	2	3	5	2	1	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50279546C>A	ENST00000216268.5	+	2	2713	c.2236C>A	c.(2236-2238)Ctc>Atc	p.L746I		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GTACCTGACCCTCACGGCCCA	0.577													A	50279546	C	A	50279546	3	1	364	1	0	0	0	0	1	0	0	0	17621	681	24	4	2238	4	ZBED4	22	50279546	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	248	50279546	1025020	14908	38410											
ALG12	79087	broad.mit.edu	37	chr22	50304164	50304164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggccgtcacccagcagaaCatggtggccaccatggcccc	9	5	11	16	1	1	1	1	0	0	1	1	1	1	1	6	4	2	1	6	4	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50304164C>T	ENST00000330817.6	-	4	660	c.387G>A	c.(385-387)atG>atA	p.M129I		NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		CCCAGCAGAACATGGTGGCCA	0.567													T	50304164	C	T	50304164	3	4	364	1	0	0	0	0	1	0	0	0	514	478	17	2	1107	2	ALG12	22	50304164	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	24618	50304164	1000402	14909	38411											
TTLL8	164714	broad.mit.edu	37	chr22	50479633	50479634	+	Frame_Shift_Ins	INS	-	-	G																															acctgcctgtctcgggctgtINSggggggctcaaatgacatca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50479633_50479634insG	ENST00000266182.6	-	8	902_903	c.903_904insC	c.(901-906)cccacafs	p.T302fs	TTLL8_ENST00000440475.1_Intron					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		TCTCGGGCTGTGGGGGGCTCAA	0.559													G	50479634	-	G	50479633	7	5	364	1	0	1	1	0	0	0	0	0	16835	1696	59	0	1627	0	TTLL8	22	50479633	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	175469	50479633	824933	14910	38412											
MLC1	23209	broad.mit.edu	37	chr22	50502619	50502619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcagcagcagcacatcGtaggatggctgcaggcggaa	12	4	15	10	2	0	0	0	0	0	0	1	2	0	2	0	4	6	8	0	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50502619G>A	ENST00000311597.5	-	11	1509	c.903C>T	c.(901-903)taC>taT	p.Y301Y	MLC1_ENST00000395876.2_Silent_p.Y301Y|MLC1_ENST00000538737.1_Silent_p.Y267Y|MLC1_ENST00000450140.2_Silent_p.Y249Y|MLC1_ENST00000483836.1_5'UTR|MLC1_ENST00000431262.2_Silent_p.Y271Y|MLC1_ENST00000535444.1_Silent_p.Y222Y	NM_015166.3	NP_055981.1	Q15049	MLC1_HUMAN	megalencephalic leukoencephalopathy with subcortical cysts 1	301						basolateral plasma membrane|endosome|integral to membrane|integral to membrane of membrane fraction	ion channel activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(3)	18		all_cancers(38;7.69e-11)|all_epithelial(38;9.52e-10)|all_lung(38;3.67e-05)|Breast(42;0.000776)|Lung NSC(38;0.000946)|Ovarian(80;0.0365)|Lung SC(80;0.113)		READ - Rectum adenocarcinoma(2;0.000669)|Colorectal(2;0.00242)|LUAD - Lung adenocarcinoma(64;0.0695)|BRCA - Breast invasive adenocarcinoma(115;0.216)		gcagcaCATCGTAGGATGGCT	0.652													A	50502619	G	A	50502619	2	1	364	1	0	0	0	0	0	0	0	1	9687	1140	40	1		1	MLC1	22	50502619	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22986	50502619	801947	14911	38413											
MOV10L1	54456	broad.mit.edu	37	chr22	50552133	50552133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaacgattttgctgaagaAcaaaggtgatattgaagtta	15	12	11	3	1	0	4	0	3	0	1	0	6	0	5	0	2	3	2	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50552133A>G	ENST00000262794.5	+	6	883	c.800A>G	c.(799-801)aAc>aGc	p.N267S	MOV10L1_ENST00000540615.1_Missense_Mutation_p.N247S|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Missense_Mutation_p.N267S|MOV10L1_ENST00000545383.1_Missense_Mutation_p.N267S	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	267					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTGCTGAAGAACAAAGGTGAT	0.463													G	50552133	A	G	50552133	3	3	364	1	0	0	0	0	1	0	0	0	9795	43	2	3	863	3	MOV10L1	22	50552133	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	49514	50552133	752433	14912	38414											
MOV10L1	54456	broad.mit.edu	37	chr22	50558970	50558970	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagttttcttccccaataTccaatcccagatagacttag	12	12	4	13	0	1	2	0	0	1	2	4	2	4	2	5	0	0	1	5	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50558970T>C	ENST00000262794.5	+	10	1577	c.1494T>C	c.(1492-1494)taT>taC	p.Y498Y	MOV10L1_ENST00000540615.1_Silent_p.Y478Y|MOV10L1_ENST00000395843.1_5'UTR|MOV10L1_ENST00000395858.3_Silent_p.Y498Y|MOV10L1_ENST00000545383.1_Silent_p.Y498Y	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	498					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		TTCCCCAATATCCAATCCCAG	0.378													C	50558970	T	C	50558970	2	2	364	1	0	0	0	0	0	0	0	1	9795	1442	50	3		3	MOV10L1	22	50558970	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6837	50558970	745596	14913	38415											
PANX2	56666	broad.mit.edu	37	chr22	50617667	50617667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagatcctcatcgccaccttCgacgagccgagaacggtcgt	9	7	10	15	6	1	2	1	0	0	2	5	5	2	2	4	1	2	0	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50617667C>T	ENST00000159647.5	+	4	1910	c.1910C>T	c.(1909-1911)tCg>tTg	p.S637L	PANX2_ENST00000395842.2_Silent_p.F665F	NM_001160300.1	NP_001153772.1	Q96RD6	PANX2_HUMAN	pannexin 2	0					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TCGCCACCTTCGACGAGCCGA	0.692													T	50617667	C	T	50617667	3	4	364	1	0	0	0	0	1	0	0	0	11497	893	31	1	2005	1	PANX2	22	50617667	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58697	50617667	686899	14914	38416											
SELO	83642	broad.mit.edu	37	chr22	50649116	50649116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccggccgctacgcgtacaGcaagcagcccgaggtgtgca	9	4	13	15	5	0	0	0	0	0	0	0	1	0	0	3	2	6	5	3	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50649116G>T	ENST00000380903.2	+	5	1185	c.1127G>T	c.(1126-1128)aGc>aTc	p.S376I	SELO_ENST00000492092.1_3'UTR	NM_031454.1	NP_113642.1	Q9BVL4	SELO_HUMAN															all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		TACGCGTACAGCAAGCAGCCC	0.682											OREG0026676	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50649116	G	T	50649116	3	4	364	1	0	0	0	0	1	0	0	0	14111	971	34	4	1145	4	SELO	22	50649116	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	31449	50649116	655450	14915	38417											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656511	50656511	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagatgctgtggatgacgTtcatgacgggcgccgccttc	7	10	14	10	4	1	4	1	3	0	1	2	5	1	5	2	2	1	2	2	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50656511T>G	ENST00000248846.5	-	24	5308	c.5204A>C	c.(5203-5205)aAc>aCc	p.N1735T	TUBGCP6_ENST00000439308.2_3'UTR|TUBGCP6_ENST00000491449.1_5'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1735					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GTGGATGACGTTCATGACGGG	0.706													G	50656511	T	G	50656511	3	3	364	1	0	0	0	0	1	0	0	0	16872	1725	60	5	263	5	TUBGCP6	22	50656511	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	7395	50656511	648055	14916	38418											
HDAC10	83933	broad.mit.edu	37	chr22	50688893	50688893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcgaactgtccggacagcGcctgcagctcctccttgcct	5	9	10	17	4	0	0	0	0	0	0	4	2	3	1	5	1	5	2	5	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50688893G>A	ENST00000216271.5	-	3	606	c.254C>T	c.(253-255)gCg>gTg	p.A85V	MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.A85V|HDAC10_ENST00000498366.1_Intron|HDAC10_ENST00000448072.1_Missense_Mutation_p.A85V	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	85	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCGGACAGCGCCTGCAGCTC	0.617													A	50688893	G	A	50688893	3	1	364	1	0	0	0	0	1	0	0	0	7060	1087	38	1	1827	1	HDAC10	22	50688893	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	32382	50688893	615673	14917	38419											
MAPK12	6300	broad.mit.edu	37	chr22	50694529	50694529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacccgtctgcgtgtagcGcatccaattcaagatgacct	9	10	8	14	3	3	2	2	1	1	1	4	2	4	2	3	0	2	2	3	0	3	2	rs2230823	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50694529G>A	ENST00000215659.8	-	7	919	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	MAPK12_ENST00000395780.1_Missense_Mutation_p.R112C|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	202	Protein kinase.			MR -> IA (in Ref. 1; CAA55984).	cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGTGTAGCGCATCCAATTC	0.612													A	50694529	G	A	50694529	3	1	364	1	0	0	0	0	1	0	0	0	9349	1087	38	1	523	1	MAPK12	22	50694529	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5636	50694529	610037	14918	38420											
PLXNB2	23654	broad.mit.edu	37	chr22	50718975	50718975	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctccaggagctccaggAagagcgtgtgcatgatgtcc	9	8	13	11	1	0	2	0	1	0	1	3	4	3	4	3	2	4	3	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50718975A>T	ENST00000449103.1	-	25	4258	c.4118T>A	c.(4117-4119)tTc>tAc	p.F1373Y	PLXNB2_ENST00000359337.4_Missense_Mutation_p.F1373Y			O15031	PLXB2_HUMAN	plexin B2	1373					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GAGCTCCAGGAAGAGCGTGTG	0.672													T	50718975	A	T	50718975	3	4	364	1	0	0	0	0	1	0	0	0	12201	246	9	5	1450	5	PLXNB2	22	50718975	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	24446	50718975	585591	14919	38421											
PLXNB2	23654	broad.mit.edu	37	chr22	50719202	50719202	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaagacttgctgttcagcaGgttggagaactggtagaggg	11	9	16	5	0	1	3	1	0	0	3	1	5	1	3	0	4	3	5	0	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50719202G>T	ENST00000449103.1	-	24	4104	c.3964C>A	c.(3964-3966)Ctg>Atg	p.L1322M	PLXNB2_ENST00000359337.4_Missense_Mutation_p.L1322M			O15031	PLXB2_HUMAN	plexin B2	1322					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CTGTTCAGCAGGTTGGAGAAC	0.662													T	50719202	G	T	50719202	3	4	364	1	0	0	0	0	1	0	0	0	12201	991	35	4	1608	4	PLXNB2	22	50719202	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	227	50719202	585364	14920	38422											
PLXNB2	23654	broad.mit.edu	37	chr22	50722625	50722625	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtgcaggggcagcgtctcGttggcatcgtgggacagctg	6	8	18	9	3	1	0	0	0	1	0	3	1	1	1	0	5	3	5	0	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50722625G>A	ENST00000449103.1	-	13	2339	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	PLXNB2_ENST00000359337.4_Silent_p.N733N|PLXNB2_ENST00000496720.1_5'UTR			O15031	PLXB2_HUMAN	plexin B2	733					regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGCGTCTCGTTGGCATCGT	0.682													A	50722625	G	A	50722625	2	1	364	1	0	0	0	0	0	0	0	1	12201	1136	40	1		1	PLXNB2	22	50722625	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3423	50722625	581941	14921	38423											
PLXNB2	23654	broad.mit.edu	37	chr22	50727510	50727510	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgtgcctctgagcccgTcgcggctgcccagcgggtag	3	7	16	15	5	1	1	0	1	1	0	2	1	1	1	3	3	4	3	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50727510T>A	ENST00000449103.1	-	4	1270	c.1130A>T	c.(1129-1131)gAc>gTc	p.D377V	PLXNB2_ENST00000359337.4_Missense_Mutation_p.D377V			O15031	PLXB2_HUMAN	plexin B2	377	Sema.				regulation of small GTPase mediated signal transduction	integral to membrane|intracellular	GTPase activator activity|protein binding|receptor activity			breast(2)|central_nervous_system(4)|cervix(2)|endometrium(11)|kidney(4)|large_intestine(3)|liver(1)|lung(20)|ovary(5)|prostate(6)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	66		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCTGAGCCCGTCGCGGCTGCC	0.672													A	50727510	T	A	50727510	3	1	364	1	0	0	0	0	1	0	0	0	12201	1667	58	5	4522	5	PLXNB2	22	50727510	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4885	50727510	577056	14922	38424											
SBF1	6305	broad.mit.edu	37	chr22	50898014	50898014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagcagaccacggggaaGcggttctggcggtagcagcg	8	4	17	12	5	1	1	0	0	1	1	1	2	1	2	2	5	4	4	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898014G>A	ENST00000380817.3	-	27	3756	c.3573C>T	c.(3571-3573)cgC>cgT	p.R1191R	SBF1_ENST00000348911.6_Silent_p.R1192R|SBF1_ENST00000390679.3_Silent_p.R1191R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				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)		CCACGGGGAAGCGGTTCTGGC	0.682													A	50898014	G	A	50898014	2	1	364	1	0	0	0	0	0	0	0	1	13950	958	34	2		2	SBF1	22	50898014	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	170504	50898014	406552	14923	38425											
SBF1	6305	broad.mit.edu	37	chr22	50898420	50898420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcggttgaccggagaaatgCggaagggctcagacttggcc	9	7	16	9	3	1	3	1	1	0	2	1	5	1	4	2	5	2	2	2	5	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50898420C>T	ENST00000380817.3	-	26	3635	c.3452G>A	c.(3451-3453)cGc>cAc	p.R1151H	SBF1_ENST00000348911.6_Missense_Mutation_p.R1152H|SBF1_ENST00000390679.3_Missense_Mutation_p.R1151H	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				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)		CGGAGAAATGCGGAAGGGCTC	0.667													T	50898420	C	T	50898420	3	4	364	1	0	0	0	0	1	0	0	0	13950	768	27	1	2293	1	SBF1	22	50898420	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	406	50898420	406146	14924	38426											
SBF1	6305	broad.mit.edu	37	chr22	50900823	50900823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcttctcacgactcagaGttggccacaagcgccgctgc	7	8	11	15	3	2	1	2	0	1	1	3	2	2	1	2	1	3	4	2	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50900823G>A	ENST00000380817.3	-	19	2390	c.2207C>T	c.(2206-2208)aCt>aTt	p.T736I	SBF1_ENST00000348911.6_Missense_Mutation_p.T737I|SBF1_ENST00000390679.3_Missense_Mutation_p.T736I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						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)		ACGACTCAGAGTTGGCCACAA	0.627													A	50900823	G	A	50900823	3	1	364	1	0	0	0	0	1	0	0	0	13950	1029	36	2	3566	2	SBF1	22	50900823	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2403	50900823	403743	14925	38427											
SBF1	6305	broad.mit.edu	37	chr22	50905974	50905974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcaccctgaacacctccGtgtggtcgagtcgcgacacc	7	7	10	17	4	1	1	1	1	0	0	4	3	2	1	5	1	1	0	5	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50905974G>A	ENST00000380817.3	-	4	608	c.425C>T	c.(424-426)aCg>aTg	p.T142M	SBF1_ENST00000348911.6_Missense_Mutation_p.T143M|SBF1_ENST00000390679.3_Missense_Mutation_p.T142M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		DENN.				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)		GAACACCTCCGTGTGGTCGAG	0.657													A	50905974	G	A	50905974	3	1	364	1	0	0	0	0	1	0	0	0	13950	1145	40	1	5408	1	SBF1	22	50905974	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	5151	50905974	398592	14926	38428											
SBF1	6305	broad.mit.edu	37	chr22	50906115	50906115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcatcctccacgcgcgtcGtttcctgctgggggtcaggg	3	10	15	13	4	1	0	1	0	0	0	5	0	4	0	3	4	1	3	3	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50906115G>A	ENST00000380817.3	-	4	467	c.284C>T	c.(283-285)aCg>aTg	p.T95M	SBF1_ENST00000348911.6_Missense_Mutation_p.T96M|SBF1_ENST00000390679.3_Missense_Mutation_p.T95M	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						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)		CACGCGCGTCGTTTCCTGCTG	0.652													A	50906115	G	A	50906115	3	1	364	1	0	0	0	0	1	0	0	0	13950	1145	40	1	5549	1	SBF1	22	50906115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141	50906115	398451	14927	38429											
LMF2	91289	broad.mit.edu	37	chr22	50943312	50943312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcatgcggcggaagaggccGtaggagttggccagctgtag	8	7	18	8	3	1	1	1	0	0	1	1	3	1	3	2	5	2	4	2	5	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50943312G>A	ENST00000216080.5	-	10	1449	c.1281C>T	c.(1279-1281)taC>taT	p.Y427Y	LMF2_ENST00000380796.3_Intron|LMF2_ENST00000474879.2_Silent_p.Y452Y			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	452						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GGAAGAGGCCGTAGGAGTTGG	0.697													A	50943312	G	A	50943312	2	1	364	1	0	0	0	0	0	0	0	1	8907	1140	40	1		1	LMF2	22	50943312	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	37197	50943312	361254	14928	38430											
NCAPH2	29781	broad.mit.edu	37	chr22	50956563	50956563	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtttttgccagcacagcCgtcagggtgaggtcctggcc	5	10	14	12	2	1	1	1	1	0	0	2	1	2	1	4	3	3	2	4	3	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50956563C>T	ENST00000395701.3	+	7	596	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	NCAPH2_ENST00000420993.2_Splice_Site_p.R168C|NCAPH2_ENST00000395698.3_Splice_Site_p.R168C|NCAPH2_ENST00000299821.11_Splice_Site_p.R168C			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2	168					chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		CCAGCACAGCCGTCAGGGTGA	0.622													T	50956563	C	T	50956563	5	4	364	1	0	0	0	0	0	0	1	0	10286	666	23	1	528	1	NCAPH2	22	50956563	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13251	50956563	348003	14929	38431											
KLHDC7B	113730	broad.mit.edu	37	chr22	50987806	50987806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaagctggtggccctggAcgggctgctctatgccatcg	5	9	14	13	2	2	0	1	0	1	0	3	1	2	1	2	4	3	4	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:50987806A>G	ENST00000395676.2	+	1	1345	c.1211A>G	c.(1210-1212)gAc>gGc	p.D404G		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	404										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCCCTGGACGGGCTGCTC	0.652													G	50987806	A	G	50987806	3	3	364	1	0	0	0	0	1	0	0	0	8419	275	10	3	1213	3	KLHDC7B	22	50987806	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31243	50987806	316760	14930	38432											
CPT1B	1375	broad.mit.edu	37	chr22	51009825	51009825	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaagtgagccagctgcagCgcgatctgcacaaaggcatc	11	5	13	12	3	1	1	0	1	1	0	2	3	1	2	1	2	5	4	1	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51009825C>T	ENST00000360719.2	-	14	1856	c.1719G>A	c.(1717-1719)gcG>gcA	p.A573A	CPT1B_ENST00000405237.3_Silent_p.A573A|CPT1B_ENST00000395650.2_Silent_p.A573A|CPT1B_ENST00000434492.2_Silent_p.A368A|CPT1B_ENST00000440709.1_Silent_p.A492A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000457250.1_Silent_p.A539A|CPT1B_ENST00000312108.7_Silent_p.A573A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	573					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCAGCTGCAGCGCGATCTGCA	0.612													T	51009825	C	T	51009825	2	4	364	1	0	0	0	0	0	0	0	1	3863	755	27	1		1	CPT1B	22	51009825	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	22019	51009825	294741	14931	38433											
CHKB	1120	broad.mit.edu	37	chr22	51019850	51019850	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggctcctgactcaccGctccatggtcccaaacagcc	9	6	10	16	1	1	1	1	1	0	0	4	3	4	2	5	3	2	2	5	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51019850G>A	ENST00000406938.2	-	4	797	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	CHKB_ENST00000463053.1_5'UTR	NM_005198.4	NP_005189.2	Q9Y259	CHKB_HUMAN	choline kinase beta	194					phosphatidylethanolamine biosynthetic process		ATP binding|choline kinase activity|ethanolamine kinase activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|ovary(3)|skin(1)|urinary_tract(1)	15		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;4.04e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.79e-74)|Epithelial(4;6.17e-70)|GBM - Glioblastoma multiforme(4;5.68e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.205)	Choline(DB00122)	CTGACTCACCGCTCCATGGTC	0.587													A	51019850	G	A	51019850	5	1	364	1	0	0	0	0	0	0	1	0	3378	1101	38	1	639	1	CHKB	22	51019850	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10025	51019850	284716	14932	38434											
ARSA	410	broad.mit.edu	37	chr22	51065374	51065374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagccaggggggctgcGcctccacggacaggttggcc	5	4	18	14	3	0	0	0	0	0	0	1	1	1	1	4	7	2	3	4	7	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51065374G>A	ENST00000547307.1	-	3	971	c.566C>T	c.(565-567)gCg>gTg	p.A189V	ARSA_ENST00000356098.5_Missense_Mutation_p.A191V|ARSA_ENST00000395619.3_Missense_Mutation_p.A191V|ARSA_ENST00000216124.5_Missense_Mutation_p.A191V|ARSA_ENST00000395621.3_Missense_Mutation_p.A191V|ARSA_ENST00000453344.2_Missense_Mutation_p.A105V|ARSA_ENST00000547805.1_Missense_Mutation_p.A189V			P15289	ARSA_HUMAN	arylsulfatase A	189						lysosome	arylsulfatase activity|calcium ion binding|cerebroside-sulfatase activity			endometrium(1)|large_intestine(1)|lung(5)|pancreas(1)|skin(1)	9		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)	Micafungin(DB01141)	GGGGGGCTGCGCCTCCACGGA	0.677													A	51065374	G	A	51065374	3	1	364	1	0	0	0	0	1	0	0	0	992	1087	38	1	981	1	ARSA	22	51065374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45524	51065374	239192	14933	38435											
SHANK3	85358	broad.mit.edu	37	chr22	51117811	51117811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagacatgggggcccagaaCgcctcggggaacacagccct	10	3	14	14	2	0	2	0	0	0	2	1	3	0	3	3	4	3	1	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51117811C>T	ENST00000414786.2	+	7	1067	c.840C>T	c.(838-840)aaC>aaT	p.N280N	SHANK3_ENST00000445220.2_Silent_p.N280N|SHANK3_ENST00000262795.3_Silent_p.N280N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	280										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		GGGCCCAGAACGCCTCGGGGA	0.612													T	51117811	C	T	51117811	2	4	364	1	0	0	0	0	0	0	0	1	14360	535	19	1		1	SHANK3	22	51117811	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	52437	51117811	186755	14934	38436											
SHANK3	85358	broad.mit.edu	37	chr22	51159495	51159495	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccggtgtctgccctgaaGccgttggtcagcggcccgag	4	8	14	15	4	2	1	1	1	1	0	3	2	3	1	5	3	3	1	5	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51159495G>T	ENST00000414786.2	+	21	3419	c.3192G>T	c.(3190-3192)aaG>aaT	p.K1064N	SHANK3_ENST00000445220.2_Missense_Mutation_p.K1080N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1094N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1094										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CTGCCCTGAAGCCGTTGGTCA	0.726													T	51159495	G	T	51159495	3	4	364	1	0	0	0	0	1	0	0	0	14360	962	34	4	3368	4	SHANK3	22	51159495	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41684	51159495	145071	14935	38437											
SHANK3	85358	broad.mit.edu	37	chr22	51160488	51160488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacttttctactcgagaaGccaccagtgcctcccaagcc	10	8	6	17	1	1	1	0	0	1	1	3	2	2	1	5	0	4	0	5	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160488G>T	ENST00000414786.2	+	21	4412	c.4185G>T	c.(4183-4185)aaG>aaT	p.K1395N	SHANK3_ENST00000445220.2_Missense_Mutation_p.K1411N|SHANK3_ENST00000262795.3_Missense_Mutation_p.K1425N			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1425										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		TACTCGAGAAGCCACCAGTGC	0.622													T	51160488	G	T	51160488	3	4	364	1	0	0	0	0	1	0	0	0	14360	962	34	4	4361	4	SHANK3	22	51160488	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	993	51160488	144078	14936	38438											
SHANK3	85358	broad.mit.edu	37	chr22	51160848	51160848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccctgccaagaagtcGcccatcgcagcagctcggtg	8	6	12	15	3	0	1	0	0	0	1	3	2	0	2	3	2	3	3	3	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51160848G>A	ENST00000414786.2	+	21	4772	c.4545G>A	c.(4543-4545)tcG>tcA	p.S1515S	SHANK3_ENST00000445220.2_Silent_p.S1531S|SHANK3_ENST00000262795.3_Silent_p.S1545S			F2Z3L0	F2Z3L0_HUMAN	SH3 and multiple ankyrin repeat domains 3	1545										central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)	8		all_cancers(38;3.75e-11)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.22)		CCAAGAAGTCGCCCATCGCAG	0.652													A	51160848	G	A	51160848	2	1	364	1	0	0	0	0	0	0	0	1	14360	1074	38	1		1	SHANK3	22	51160848	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	360	51160848	143718	14937	38439											
ACR	49	broad.mit.edu	37	chr22	51182575	51182575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacccagtggtacaatgggCgcgttcagccaaccaatgtg	10	7	12	12	3	1	0	1	0	0	0	1	1	1	0	3	2	3	2	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chr22:51182575C>T	ENST00000216139.5	+	4	692	c.652C>T	c.(652-654)Cgc>Tgc	p.R218C	ACR_ENST00000527761.1_3'UTR	NM_001097.2	NP_001088.2	P10323	ACRO_HUMAN	acrosin	218	Peptidase S1.				acrosome matrix dispersal|activation of adenylate cyclase activity	acrosomal matrix|protein complex	amidase activity|copper ion binding|DNA binding|drug binding|fucose binding|mannose binding|protein binding|serine-type endopeptidase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;1.1e-06)|LUAD - Lung adenocarcinoma(64;0.247)		GTACAATGGGCGCGTTCAGCC	0.572													T	51182575	C	T	51182575	3	4	364	1	0	0	0	0	1	0	0	0	169	768	27	1	666	1	ACR	22	51182575	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	21727	51182575	121991	14938	38440											
CRLF2	64109	broad.mit.edu	37	chrX	1314993	1314993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagctttggtttgggaggcGttggtgtctctgcacaggca	6	12	15	8	1	1	0	0	0	1	0	2	1	1	1	0	5	2	5	0	5	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1314993G>A	ENST00000381567.3	-	6	667	c.668C>T	c.(667-669)aCg>aTg	p.T223M	CRLF2_ENST00000467626.1_5'UTR	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	223						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		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)				TTTGGGAGGCGTTGGTGTCTC	0.448			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								A	1314993	G	A	1314993	3	1	364	1	0	0	0	0	1	0	0	0	3918	1145	40	1	109	1	CRLF2	23	1314993	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08		1314993	153955567	14939	38441											
CSF2RA	1438	broad.mit.edu	37	chrX	1413223	1413223	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcgccctcgttacagaaCgattcaaccctcccagcaat	10	8	6	17	3	1	1	1	0	0	1	3	2	2	1	4	0	5	2	4	0	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1413223C>T	ENST00000381524.3	+	8	835	c.649C>T	c.(649-651)Cga>Tga	p.R217*	CSF2RA_ENST00000381509.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Nonsense_Mutation_p.R84*|CSF2RA_ENST00000361536.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000355432.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381500.1_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000417535.2_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000381529.3_Nonsense_Mutation_p.R217*|CSF2RA_ENST00000432318.2_Nonsense_Mutation_p.R217*			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	217						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CGTTACAGAACGATTCAACCC	0.582													T	1413223	C	T	1413223	4	4	364	1	0	0	0	0	0	1	0	0	3967	528	19	1	671	1	CSF2RA	23	1413223	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	98230	1413223	153857337	14940	38442											
IL3RA	3563	broad.mit.edu	37	chrX	1464255	1464255	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggatgaaagcaaaggctcaGcagttgacctgggaccttaa	14	7	12	8	0	1	2	1	2	0	0	1	4	1	4	2	3	2	4	2	3	3	2	rs146307787		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1464255G>A	ENST00000331035.4	+	3	460	c.111G>A	c.(109-111)caG>caA	p.Q37Q	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	37						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CAAAGGCTCAGCAGTTGACCT	0.423													A	1464255	G	A	1464255	2	1	364	1	0	0	0	0	0	0	0	1	7753	962	34	2		2	IL3RA	23	1464255	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	51032	1464255	153806305	14941	38443											
IL3RA	3563	broad.mit.edu	37	chrX	1471117	1471117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtacgacctgtacttgaaCgttgccaagtaggtgtgccc	9	10	11	11	2	0	1	0	1	0	0	0	2	0	1	3	1	5	4	3	1	5	5	rs142385163	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1471117C>T	ENST00000331035.4	+	5	772	c.423C>T	c.(421-423)aaC>aaT	p.N141N	IL3RA_ENST00000381469.2_Silent_p.N63N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	141						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGTACTTGAACGTTGCCAAGT	0.647													T	1471117	C	T	1471117	2	4	364	1	0	0	0	0	0	0	0	1	7753	535	19	1		1	IL3RA	23	1471117	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6862	1471117	153799443	14942	38444											
IL3RA	3563	broad.mit.edu	37	chrX	1475123	1475123	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgttgctagagatattaaCtccacccaacatgactgcaa	13	10	6	12	1	0	2	0	1	0	1	2	3	1	2	2	0	4	3	2	0	5	4	rs149064100		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1475123C>A	ENST00000331035.4	+	7	975	c.626C>A	c.(625-627)aCt>aAt	p.T209N	IL3RA_ENST00000381469.2_Missense_Mutation_p.T131N	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	209						integral to membrane|plasma membrane	interleukin-3 receptor activity			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGATATTAACTCCACCCAAC	0.328													A	1475123	C	A	1475123	3	1	364	1	0	0	0	0	1	0	0	0	7753	565	20	4	648	4	IL3RA	23	1475123	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4006	1475123	153795437	14943	38445											
IL3RA	3563	broad.mit.edu	37	chrX	1484094	1484094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtacaaataagagccCgggaaagagtgtatgaattc	17	7	10	7	1	0	3	0	1	0	2	1	4	0	4	1	1	2	2	1	1	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1484094C>T	ENST00000331035.4	+	9	1172	c.823C>T	c.(823-825)Cgg>Tgg	p.R275W	IL3RA_ENST00000381469.2_Missense_Mutation_p.R197W	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	275						integral to membrane|plasma membrane	interleukin-3 receptor activity	p.R275R(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AATAAGAGCCCGGGAAAGAGT	0.572													T	1484094	C	T	1484094	3	4	364	1	0	0	0	0	1	0	0	0	7753	643	23	1	853	1	IL3RA	23	1484094	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8971	1484094	153786466	14944	38446											
SLC25A6	293	broad.mit.edu	37	chrX	1508334	1508334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggttctggcgaaatccagcGggtacacgaagcagagggag	11	5	17	8	3	1	1	0	0	1	1	2	4	2	2	1	4	3	3	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1508334G>A	ENST00000381401.5	-	2	1112	c.398C>T	c.(397-399)cCg>cTg	p.P133L	SLC25A6_ENST00000475167.1_5'UTR	NM_001636.3	NP_001627.2	P12236	ADT3_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 6	133					active induction of host immune response by virus|apoptosis|energy reserve metabolic process|regulation of insulin secretion|viral infectious cycle	integral to membrane|mitochondrial inner membrane presequence translocase complex	ATP:ADP antiporter activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|upper_aerodigestive_tract(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Clodronate(DB00720)	GAAATCCAGCGGGTACACGAA	0.662													A	1508334	G	A	1508334	3	1	364	1	0	0	0	0	1	0	0	0	14607	1116	39	1	510	1	SLC25A6	23	1508334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24240	1508334	153762226	14945	38447											
P2RY8	286530	broad.mit.edu	37	chrX	1584701	1584701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgaagttgttgggggCgaagcaggtgacaaaggcca	12	5	17	7	2	0	1	0	1	0	0	0	4	0	1	1	4	2	4	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1584701C>T	ENST00000381297.4	-	2	961	c.751G>A	c.(751-753)Gcc>Acc	p.A251T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	251						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTGTTGGGGGCGAAGCAGGTG	0.657			T	CRLF2	"B-ALL, Downs associated ALL"								T	1584701	C	T	1584701	3	4	364	1	0	0	0	0	1	0	0	0	11431	768	27	1	332	1	P2RY8	23	1584701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	76367	1584701	153685859	14946	38448											
P2RY8	286530	broad.mit.edu	37	chrX	1585028	1585028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggtccctgcacacgcggCcaccgcgtaacgacggcggc	7	3	13	18	7	0	0	0	0	0	0	1	1	1	0	4	4	2	2	4	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:1585028C>T	ENST00000381297.4	-	2	634	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	142						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.A142S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GCACACGCGGCCACCGCGTAA	0.682			T	CRLF2	"B-ALL, Downs associated ALL"								T	1585028	C	T	1585028	3	4	364	1	0	0	0	0	1	0	0	0	11431	739	26	2	659	2	P2RY8	23	1585028	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	327	1585028	153685532	14947	38449											
ZBED1	9189	broad.mit.edu	37	chrX	2406829	2406829	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttctcatacagaaacacCtgctcgtccacgtgcgcggg	8	8	11	14	5	1	1	1	0	1	1	4	1	2	1	2	1	4	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2406829C>A	ENST00000381223.4	-	2	2135	c.1932G>T	c.(1930-1932)caG>caT	p.Q644H	ZBED1_ENST00000381222.2_Missense_Mutation_p.Q644H|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.Q644H|ZBED1_ENST00000515319.1_5'UTR	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	644						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACAGAAACACCTGCTCGTCCA	0.682													A	2406829	C	A	2406829	3	1	364	1	0	0	0	0	1	0	0	0	17619	680	24	4	156	4	ZBED1	23	2406829	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	821801	2406829	152863731	14948	38450											
ZBED1	9189	broad.mit.edu	37	chrX	2407352	2407352	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccaggaaggtggccacgTtgagaaacatgtcgatctcg	10	8	14	9	3	1	1	0	1	1	1	4	4	2	2	2	4	1	1	2	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2407352T>C	ENST00000381223.4	-	2	1612	c.1409A>G	c.(1408-1410)aAc>aGc	p.N470S	ZBED1_ENST00000381222.2_Missense_Mutation_p.N470S|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Missense_Mutation_p.N470S	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	470						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTGGCCACGTTGAGAAACAT	0.612													C	2407352	T	C	2407352	3	2	364	1	0	0	0	0	1	0	0	0	17619	1725	60	3	679	3	ZBED1	23	2407352	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	523	2407352	152863208	14949	38451											
ZBED1	9189	broad.mit.edu	37	chrX	2408758	2408758	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccaggcttttattctcCattgcttctccaccggagcc	5	14	6	16	1	3	0	0	0	3	0	6	1	3	1	5	2	2	2	5	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2408758C>T	ENST00000381223.4	-	2	206	c.3G>A	c.(1-3)atG>atA	p.M1I	ZBED1_ENST00000381222.2_Start_Codon_SNP_p.M1I|DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381218.3_Start_Codon_SNP_p.M1I	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	1						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTATTCTCCATTGCTTCTC	0.597													T	2408758	C	T	2408758	1	4	364	1	0	0	0	0	0	0	0	0	17619	594	21	2		2	ZBED1	23	2408758	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1406	2408758	152861802	14950	38452											
XG	7499	broad.mit.edu	37	chrX	2729409	2729409	+	Missense_Mutation	SNP	G	G	A																															caaaaatcgtgtctcccatcGtatccgtggtggtggtgaca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729409G>A	ENST00000426774.1	+	9	668	c.445G>A	c.(445-447)Gta>Ata	p.V149I	XG_ENST00000381174.5_Missense_Mutation_p.V148I|XG_ENST00000419513.2_Missense_Mutation_p.V163I	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	148						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		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)				GTCTCCCATCGTATCCGTGGT	0.443													A	2729409	G	A	2729409	3	1	364	1	0	0	0	0	1	0	0	0	17529	1145	40	1	528	1	XG	23	2729409	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	320651	2729409	152541151	14951	38453	119	2									
XG	7499	broad.mit.edu	37	chrX	2729415	2729415	+	Missense_Mutation	SNP	G	G	A																															tcgtgtctcccatcgtatccGtggtggtggtgacactgctg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2729415G>A	ENST00000426774.1	+	9	674	c.451G>A	c.(451-453)Gtg>Atg	p.V151M	XG_ENST00000381174.5_Missense_Mutation_p.V150M|XG_ENST00000419513.2_Missense_Mutation_p.V165M	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	150						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		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)				CATCGTATCCGTGGTGGTGGT	0.453													A	2729415	G	A	2729415	3	1	364	1	0	0	0	0	1	0	0	0	17529	1145	40	1	534	1	XG	23	2729415	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6	2729415	152541145	14952	38454	119	2									
GYG2	8908	broad.mit.edu	37	chrX	2761277	2761277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatcaggcttttgtcacaCtagccaccaatgacatctac	11	11	6	13	0	3	2	2	2	1	0	3	2	3	2	2	1	2	1	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2761277C>T	ENST00000381163.3	+	4	406	c.124C>T	c.(124-126)Cta>Tta	p.L42L	GYG2_ENST00000381161.1_Intron|GYG2_ENST00000338623.5_Silent_p.L42L|GYG2_ENST00000542787.1_Silent_p.L42L|GYG2_ENST00000398806.3_Silent_p.L11L	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	42					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TTTTGTCACACTAGCCACCAA	0.552													T	2761277	C	T	2761277	2	4	364	1	0	0	0	0	0	0	0	1	6961	564	20	2		2	GYG2	23	2761277	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31862	2761277	152509283	14953	38455											
GYG2	8908	broad.mit.edu	37	chrX	2779761	2779761	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaggacgccgttcagaaGatgtaagtacctgcattcct	11	10	10	10	2	1	3	1	1	0	2	2	4	2	4	3	1	2	4	3	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2779761G>T	ENST00000381163.3	+	9	1411	c.1129G>T	c.(1129-1131)Gat>Tat	p.D377Y	GYG2_ENST00000381161.1_3'UTR|GYG2_ENST00000338623.5_Missense_Mutation_p.D377Y|GYG2_ENST00000542787.1_Missense_Mutation_p.D377Y|GYG2_ENST00000398806.3_Missense_Mutation_p.D346Y	NM_001079855.1|NM_001184702.1|NM_003918.2	NP_001073324.1|NP_001171631.1|NP_003909.2	O15488	GLYG2_HUMAN	glycogenin 2	377					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|soluble fraction	glycogenin glucosyltransferase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)	13		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGTTCAGAAGATGTAAGTAC	0.582													T	2779761	G	T	2779761	3	4	364	1	0	0	0	0	1	0	0	0	6961	942	33	4	1159	4	GYG2	23	2779761	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	18484	2779761	152490799	14954	38456											
ARSD	414	broad.mit.edu	37	chrX	2836236	2836236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcagtgatccccgcGggatgcacaattcacaccct	8	8	12	13	2	1	1	1	1	0	0	2	2	2	2	3	3	1	2	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2836236G>A	ENST00000381154.1	-	5	547	c.472C>T	c.(472-474)Cgc>Tgc	p.R158C	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	158						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGATCCCCGCGGGATGCACAA	0.552													A	2836236	G	A	2836236	3	1	364	1	0	0	0	0	1	0	0	0	994	1116	39	1	1486	1	ARSD	23	2836236	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	56475	2836236	152434324	14955	38457											
ARSE	415	broad.mit.edu	37	chrX	2867535	2867535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaccggcatccacgagaCgggtatcaggtgtgtgagct	9	8	15	9	3	1	3	1	2	0	1	2	5	2	3	2	3	1	3	2	3	1	1	rs150444751		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2867535C>T	ENST00000545496.1	-	7	1030	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	ARSE_ENST00000540563.1_Missense_Mutation_p.V177I|ARSE_ENST00000381134.3_Missense_Mutation_p.V222I	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	222					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ATCCACGAGACGGGTATCAGG	0.547													T	2867535	C	T	2867535	3	4	364	1	0	0	0	0	1	0	0	0	995	536	19	1	1129	1	ARSE	23	2867535	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31299	2867535	152403025	14956	38458											
ARSH	347527	broad.mit.edu	37	chrX	2924665	2924665	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatttatgacaagaaaCgccagacccaacattgtcct	14	8	7	12	1	0	3	0	1	0	2	1	3	1	3	3	1	2	1	3	1	4	3	rs138378007	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2924665C>T	ENST00000381130.2	+	1	12	c.12C>T	c.(10-12)aaC>aaT	p.N4N		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	4						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGACAAGAAACGCCAGACCCA	0.468													T	2924665	C	T	2924665	2	4	364	1	0	0	0	0	0	0	0	1	998	535	19	1		1	ARSH	23	2924665	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57130	2924665	152345895	14957	38459											
ARSH	347527	broad.mit.edu	37	chrX	2951115	2951115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctaccctgaaggaacaGgtgcctgctatgggagtgga	11	9	13	8	0	1	1	0	1	1	0	1	4	1	4	2	4	4	1	2	4	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:2951115G>T	ENST00000381130.2	+	9	1378	c.1378G>T	c.(1378-1380)Ggt>Tgt	p.G460C		NM_001011719.1	NP_001011719.1	Q5FYA8	ARSH_HUMAN	arylsulfatase family, member H	460						integral to membrane	arylsulfatase activity|metal ion binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(6)|lung(13)|skin(1)|stomach(1)	34		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)				TGAAGGAACAGGTGCCTGCTA	0.453													T	2951115	G	T	2951115	3	4	364	1	0	0	0	0	1	0	0	0	998	1000	35	4	1412	4	ARSH	23	2951115	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26450	2951115	152319445	14958	38460											
MXRA5	25878	broad.mit.edu	37	chrX	3229611	3229611	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccggcatctttgtccgtCactgatttcaccaccagggt	6	13	8	14	2	4	1	2	1	2	0	6	1	5	1	4	2	0	1	4	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229611C>T	ENST00000217939.6	-	7	6787	c.6633G>A	c.(6631-6633)gtG>gtA	p.V2211V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2211	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTGTCCGTCACTGATTTCA	0.453													T	3229611	C	T	3229611	2	4	364	1	0	0	0	0	0	0	0	1	10079	813	29	2		2	MXRA5	23	3229611	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278496	3229611	152040949	14959	38461											
MXRA5	25878	broad.mit.edu	37	chrX	3229644	3229644	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagggtcccattggcaaaCaccttgattctgctatcaaa	12	10	7	12	0	2	1	1	1	1	0	3	1	3	1	3	2	2	2	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3229644C>A	ENST00000217939.6	-	7	6754	c.6600G>T	c.(6598-6600)gtG>gtT	p.V2200V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2200	Ig-like C2-type 6.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CATTGGCAAACACCTTGATTC	0.448													A	3229644	C	A	3229644	2	1	364	1	0	0	0	0	0	0	0	1	10079	465	17	4		4	MXRA5	23	3229644	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	33	3229644	152040916	14960	38462											
MXRA5	25878	broad.mit.edu	37	chrX	3235911	3235911	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagcaagaccaccatcctGtccaggccgtgcaggttgct	10	7	11	13	1	0	1	0	0	0	1	2	2	2	1	5	2	3	4	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3235911G>A	ENST00000217939.6	-	6	5965	c.5811C>T	c.(5809-5811)gaC>gaT	p.D1937D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1937	Ig-like C2-type 3.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCACCATCCTGTCCAGGCCGT	0.537													A	3235911	G	A	3235911	2	1	364	1	0	0	0	0	0	0	0	1	10079	1368	48	2		2	MXRA5	23	3235911	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6267	3235911	152034649	14961	38463											
MXRA5	25878	broad.mit.edu	37	chrX	3238348	3238348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtgatcccgtggtctgcGgagtgtgcaacaacggaggt	8	8	17	8	3	1	1	0	1	1	0	2	3	2	3	1	5	4	1	1	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3238348G>A	ENST00000217939.6	-	5	5532	c.5378C>T	c.(5377-5379)cCg>cTg	p.P1793L		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1793						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CGTGGTCTGCGGAGTGTGCAA	0.483													A	3238348	G	A	3238348	3	1	364	1	0	0	0	0	1	0	0	0	10079	1116	39	1	3120	1	MXRA5	23	3238348	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2437	3238348	152032212	14962	38464											
MXRA5	25878	broad.mit.edu	37	chrX	3241892	3241892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccttctgtttggaagaaTccagctaaggtgggcttcgg	8	13	12	8	1	1	1	0	0	1	1	4	2	3	2	2	4	1	3	2	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3241892T>C	ENST00000217939.6	-	5	1988	c.1834A>G	c.(1834-1836)Att>Gtt	p.I612V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	612	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTGGAAGAATCCAGCTAAGG	0.458													C	3241892	T	C	3241892	3	2	364	1	0	0	0	0	1	0	0	0	10079	1435	50	3	6664	3	MXRA5	23	3241892	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3544	3241892	152028668	14963	38465											
MXRA5	25878	broad.mit.edu	37	chrX	3248419	3248419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtctgtcctgtgatcaCtctcagcttgttgtagctga	6	14	12	9	0	3	2	2	2	2	0	5	3	4	2	1	1	2	4	1	1	1	3	rs142550750		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:3248419C>T	ENST00000217939.6	-	4	503	c.349G>A	c.(349-351)Gtg>Atg	p.V117M		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	117						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CCTGTGATCACTCTCAGCTTG	0.433													T	3248419	C	T	3248419	3	4	364	1	0	0	0	0	1	0	0	0	10079	565	20	2	8153	2	MXRA5	23	3248419	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6527	3248419	152022141	14964	38466											
NLGN4X	57502	broad.mit.edu	37	chrX	5821135	5821135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacccagttttggcgaagttCgtccagtaggtcatgaccac	9	11	10	11	2	1	1	1	1	0	0	3	2	2	1	3	2	1	3	3	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821135C>T	ENST00000381095.3	-	5	2211	c.1584G>A	c.(1582-1584)acG>acA	p.T528T	NLGN4X_ENST00000381092.1_Silent_p.T528T|NLGN4X_ENST00000275857.6_Silent_p.T528T|NLGN4X_ENST00000381093.2_Silent_p.T548T|NLGN4X_ENST00000538097.1_Silent_p.T528T	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	528					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						TGGCGAAGTTCGTCCAGTAGG	0.502													T	5821135	C	T	5821135	2	4	364	1	0	0	0	0	0	0	0	1	10540	871	31	1		1	NLGN4X	23	5821135	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2572716	5821135	149449425	14965	38467											
NLGN4X	57502	broad.mit.edu	37	chrX	5821215	5821215	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagctcggtgggaccgaTcatggggatgccgaagacat	11	6	16	8	3	1	2	1	0	0	2	2	7	1	4	2	4	2	1	2	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:5821215T>C	ENST00000381095.3	-	5	2131	c.1504A>G	c.(1504-1506)Atc>Gtc	p.I502V	NLGN4X_ENST00000381092.1_Missense_Mutation_p.I502V|NLGN4X_ENST00000275857.6_Missense_Mutation_p.I502V|NLGN4X_ENST00000381093.2_Missense_Mutation_p.I522V|NLGN4X_ENST00000538097.1_Missense_Mutation_p.I502V	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	502					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						GTGGGACCGATCATGGGGATG	0.532													C	5821215	T	C	5821215	3	2	364	1	0	0	0	0	1	0	0	0	10540	1435	50	3	954	3	NLGN4X	23	5821215	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	80	5821215	149449345	14966	38468											
VCX	26609	broad.mit.edu	37	chrX	7811790	7811790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaccactgagtcaggagagCgaggtggaagaaccactgag	14	4	15	8	1	1	4	1	2	0	2	1	8	1	5	2	3	3	0	2	3	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7811790C>T	ENST00000381059.3	+	3	573	c.354C>T	c.(352-354)agC>agT	p.S118S	VCX_ENST00000341408.4_Silent_p.S118S	NM_013452.2	NP_038480.2	Q9H320	VCX1_HUMAN	variable charge, X-linked	118	10 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				chromatin organization|ribosome assembly|spermatogenesis	nucleolus	chromatin binding	p.S118S(1)		NS(1)|endometrium(4)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	10		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GTCAGGAGAGCGAGGTGGAAG	0.637													T	7811790	C	T	7811790	2	4	364	1	0	0	0	0	0	0	0	1	17244	767	27	1		1	VCX	23	7811790	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1990575	7811790	147458770	14967	38469											
PNPLA4	8228	broad.mit.edu	37	chrX	7868854	7868854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctcaccaggtttgccaggGacaactagaataaaaagacc	15	7	9	10	0	1	2	1	0	1	2	2	3	1	3	3	2	2	1	3	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7868854G>T	ENST00000381042.4	-	7	805	c.635C>A	c.(634-636)tCc>tAc	p.S212Y	PNPLA4_ENST00000444736.1_Missense_Mutation_p.S212Y|PNPLA4_ENST00000537427.1_Missense_Mutation_p.S125Y	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	212					lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				GTTTGCCAGGGACAACTAGAA	0.358													T	7868854	G	T	7868854	3	4	364	1	0	0	0	0	1	0	0	0	12244	1174	41	4	130	4	PNPLA4	23	7868854	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	57064	7868854	147401706	14968	38470											
PNPLA4	8228	broad.mit.edu	37	chrX	7889875	7889875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcgctgggaggaagaatcGactccatcccacttctaaag	12	7	11	11	2	1	1	0	0	1	1	4	5	3	3	2	2	1	1	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:7889875G>A	ENST00000381042.4	-	4	460	c.290C>T	c.(289-291)tCg>tTg	p.S97L	PNPLA4_ENST00000444736.1_Missense_Mutation_p.S97L|PNPLA4_ENST00000537427.1_Missense_Mutation_p.S10L	NM_004650.2	NP_004641.1	P41247	PLPL4_HUMAN	patatin-like phospholipase domain containing 4	97	Patatin.				lipid catabolic process		triglyceride lipase activity			kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7		Colorectal(8;0.0329)|Medulloblastoma(8;0.232)				AGGAAGAATCGACTCCATCCC	0.438													A	7889875	G	A	7889875	3	1	364	1	0	0	0	0	1	0	0	0	12244	1059	37	1	487	1	PNPLA4	23	7889875	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21021	7889875	147380685	14969	38471											
VCX3B	425054	broad.mit.edu	37	chrX	8433557	8433557	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaggaaagaggaagtcCtcctctcagccgagccccag	11	4	13	13	1	1	1	1	0	1	1	4	5	3	3	5	3	2	1	5	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:8433557C>A	ENST00000381032.1	+	2	373	c.66C>A	c.(64-66)tcC>tcA	p.S22S	VCX3B_ENST00000440654.2_Silent_p.S22S|VCX3B_ENST00000381029.4_Silent_p.S22S|VCX3B_ENST00000444481.1_Silent_p.S22S|VCX3B_ENST00000453306.1_Silent_p.S22S	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	22						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						AGAGGAAGTCCTCCTCTCAGC	0.607													A	8433557	C	A	8433557	2	1	364	1	0	0	0	0	0	0	0	1	17247	668	24	4		4	VCX3B	23	8433557	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	543682	8433557	146837003	14970	38472											
GPR143	4935	broad.mit.edu	37	chrX	9709462	9709463	+	Frame_Shift_Ins	INS	-	-	A																															tttgcatctcaagatagaatINSaaaaggctttcattgatgat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9709462_9709463insA	ENST00000467482.1	-	7	946_947	c.800_801insT	c.(799-801)ttafs	p.L267fs	GPR143_ENST00000380929.2_Frame_Shift_Ins_p.L287fs			P51810	GP143_HUMAN	G protein-coupled receptor 143	267					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CAAGATAGAATAAAAGGCTTTC	0.371													A	9709463	-	A	9709462	7	5	364	1	0	1	1	0	0	0	0	0	6705	1403	49	0	425	0	GPR143	23	9709462	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	1275905	9709462	145561098	14971	38473											
GPR143	4935	broad.mit.edu	37	chrX	9711662	9711662	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgatcacggctcccatcCtcctctcgttctccgtgtaa	5	14	6	16	3	4	1	1	1	3	0	9	1	7	1	4	1	0	3	4	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9711662C>A	ENST00000467482.1	-	6	856	c.710G>T	c.(709-711)aGg>aTg	p.R237M	GPR143_ENST00000380929.2_Missense_Mutation_p.R257M			P51810	GP143_HUMAN	G protein-coupled receptor 143	237	Necessary for its G protein-activation ability and normal distribution of melanosomes.				calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				GGCTCCCATCCTCCTCTCGTT	0.378													A	9711662	C	A	9711662	3	1	364	1	0	0	0	0	1	0	0	0	6705	681	24	4	520	4	GPR143	23	9711662	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2200	9711662	145558898	14972	38474											
GPR143	4935	broad.mit.edu	37	chrX	9716629	9716629	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacctggacacggaagggTagtagagcatggcggctccc	9	7	14	11	2	0	1	0	0	0	1	1	3	1	3	2	5	2	4	2	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9716629T>G	ENST00000467482.1	-	4	679	c.533A>C	c.(532-534)tAc>tCc	p.Y178S	GPR143_ENST00000380929.2_Missense_Mutation_p.Y198S			P51810	GP143_HUMAN	G protein-coupled receptor 143	178					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				CACGGAAGGGTAGTAGAGCAT	0.597													G	9716629	T	G	9716629	3	3	364	1	0	0	0	0	1	0	0	0	6705	1638	57	5	705	5	GPR143	23	9716629	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4967	9716629	145553931	14973	38475											
GPR143	4935	broad.mit.edu	37	chrX	9727379	9727379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggtgaatacctcagtcCtgccgatctccggatcacca	8	9	8	16	3	3	1	2	1	1	0	6	3	4	2	6	2	2	0	6	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9727379C>T	ENST00000467482.1	-	3	594	c.448G>A	c.(448-450)Gga>Aga	p.G150R	GPR143_ENST00000380929.2_Missense_Mutation_p.G170R			P51810	GP143_HUMAN	G protein-coupled receptor 143	150					calcium-mediated signaling using intracellular calcium source|eye pigment biosynthetic process|melanosome organization|melanosome transport|phosphatidylinositol-mediated signaling|regulation of calcium-mediated signaling|visual perception	apical plasma membrane|Golgi apparatus|integral to membrane|lysosomal membrane|melanosome membrane|membrane fraction	dopamine binding|L-DOPA receptor activity|protein binding|tyrosine binding			endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	15		Hepatocellular(5;0.000888)				TACCTCAGTCCTGCCGATCTC	0.468													T	9727379	C	T	9727379	3	4	364	1	0	0	0	0	1	0	0	0	6705	690	24	2	794	2	GPR143	23	9727379	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10750	9727379	145543181	14974	38476											
SHROOM2	357	broad.mit.edu	37	chrX	9864183	9864183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtggcgggccccacccGccccgcatcggaggccggag	7	2	15	17	5	0	0	0	0	0	0	1	2	0	2	6	5	0	1	6	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9864183G>A	ENST00000380913.3	+	4	2325	c.2235G>A	c.(2233-2235)ccG>ccA	p.P745P		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	745	ASD1.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGCCCCACCCGCCCCGCATCG	0.627													A	9864183	G	A	9864183	2	1	364	1	0	0	0	0	0	0	0	1	14388	1074	38	1		1	SHROOM2	23	9864183	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	136804	9864183	145406377	14975	38477											
SHROOM2	357	broad.mit.edu	37	chrX	9900466	9900466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgctcgaggacaagactCgtggccagtgagctcagccc	9	6	13	13	2	1	2	1	1	0	1	3	4	1	3	2	2	3	3	2	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900466C>T	ENST00000380913.3	+	6	3233	c.3143C>T	c.(3142-3144)tCg>tTg	p.S1048L	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1048					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GGACAAGACTCGTGGCCAGTG	0.647													T	9900466	C	T	9900466	3	4	364	1	0	0	0	0	1	0	0	0	14388	893	31	1	3165	1	SHROOM2	23	9900466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36283	9900466	145370094	14976	38478											
SHROOM2	357	broad.mit.edu	37	chrX	9900704	9900704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccagccccaggacaccccGaaggccactgtctgtgagcg	8	4	12	17	2	1	1	0	1	1	0	1	3	1	2	6	2	2	0	6	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9900704G>A	ENST00000380913.3	+	6	3471	c.3381G>A	c.(3379-3381)ccG>ccA	p.P1127P	SHROOM2_ENST00000418909.2_5'UTR|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1127					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGACACCCCGAAGGCCACTG	0.657													A	9900704	G	A	9900704	2	1	364	1	0	0	0	0	0	0	0	1	14388	1045	37	1		1	SHROOM2	23	9900704	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	238	9900704	145369856	14977	38479											
SHROOM2	357	broad.mit.edu	37	chrX	9905180	9905180	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcatcttccagaattgaGcgggtgatggacaacaacac	12	10	10	9	1	2	3	1	2	1	1	3	4	3	4	1	2	3	1	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9905180G>C	ENST00000380913.3	+	7	3684	c.3594G>C	c.(3592-3594)gaG>gaC	p.E1198D	SHROOM2_ENST00000418909.2_Missense_Mutation_p.E33D|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1198					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCAGAATTGAGCGGGTGATGG	0.577													C	9905180	G	C	9905180	3	2	364	1	0	0	0	0	1	0	0	0	14388	962	34	4	3620	4	SHROOM2	23	9905180	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4476	9905180	145365380	14978	38480											
SHROOM2	357	broad.mit.edu	37	chrX	9912767	9912767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacgtgcaggccaacacCgtgctgggggccgaggtgga	8	4	19	10	3	0	0	0	0	0	0	0	4	0	2	3	6	3	2	3	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:9912767C>T	ENST00000380913.3	+	9	4488	c.4398C>T	c.(4396-4398)acC>acT	p.T1466T	SHROOM2_ENST00000418909.2_Silent_p.T301T	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1466	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				AGGCCAACACCGTGCTGGGGG	0.632													T	9912767	C	T	9912767	2	4	364	1	0	0	0	0	0	0	0	1	14388	639	23	1		1	SHROOM2	23	9912767	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7587	9912767	145357793	14979	38481											
WWC3	55841	broad.mit.edu	37	chrX	10096201	10096201	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccatctccggcaagacGgtacttggccctgctctaag	8	10	9	14	2	3	1	0	0	3	1	5	1	3	1	3	3	2	3	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10096201G>T	ENST00000380861.4	+	16	2671	c.2280G>T	c.(2278-2280)acG>acT	p.T760T	WWC3_ENST00000454666.1_Splice_Site_p.T760T	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	760										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCGGCAAGACGGTACTTGGCC	0.567													T	10096201	G	T	10096201	5	4	364	1	0	0	0	0	0	0	1	0	17515	1130	39	4	2338	4	WWC3	23	10096201	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	183434	10096201	145174359	14980	38482											
WWC3	55841	broad.mit.edu	37	chrX	10098024	10098024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcggactcggtggatagcGgctgtagcaactgcacccag	10	6	14	11	3	0	0	0	0	0	0	1	2	0	2	1	4	5	4	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10098024G>A	ENST00000380861.4	+	18	2852	c.2461G>A	c.(2461-2463)Ggc>Agc	p.G821S	WWC3_ENST00000454666.1_Missense_Mutation_p.G821S	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	821										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						GGTGGATAGCGGCTGTAGCAA	0.577													A	10098024	G	A	10098024	3	1	364	1	0	0	0	0	1	0	0	0	17515	1116	39	1	2527	1	WWC3	23	10098024	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1823	10098024	145172536	14981	38483											
CLCN4	1183	broad.mit.edu	37	chrX	10176405	10176405	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcattgcctaccccaatccCtacacacgccagagcaccag	12	6	5	18	1	1	1	1	0	0	1	2	1	2	1	6	0	4	1	6	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10176405C>A	ENST00000380833.4	+	9	1555	c.1164C>A	c.(1162-1164)ccC>ccA	p.P388P	CLCN4_ENST00000421085.2_Silent_p.P294P|CLCN4_ENST00000380829.1_Silent_p.P357P	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	388						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						ACCCCAATCCCTACACACGCC	0.567													A	10176405	C	A	10176405	2	1	364	1	0	0	0	0	0	0	0	1	3496	668	24	4		4	CLCN4	23	10176405	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78381	10176405	145094155	14982	38484											
MID1	4281	broad.mit.edu	37	chrX	10535405	10535405	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggctgagggtgatgacAtgccggcaggtggggcactg	6	7	19	9	2	0	3	0	3	0	0	0	3	0	3	1	6	1	4	1	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:10535405A>G	ENST00000317552.4	-	2	583	c.183T>C	c.(181-183)caT>caC	p.H61H	MID1_ENST00000380780.1_Silent_p.H61H|MID1_ENST00000380785.1_Silent_p.H61H|MID1_ENST00000380782.2_Silent_p.H61H|MID1_ENST00000453318.2_Silent_p.H61H|MID1_ENST00000380779.1_Silent_p.H61H|MID1_ENST00000380787.1_Silent_p.H61H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	61					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GGGTGATGACATGCCGGCAGG	0.597													G	10535405	A	G	10535405	2	3	364	1	0	0	0	0	0	0	0	1	9651	214	8	3		3	MID1	23	10535405	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	359000	10535405	144735155	14983	38485											
HCCS	3052	broad.mit.edu	37	chrX	11135463	11135463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaagagtcatccattcCgagagcagattcagagaaaa	17	6	10	8	1	2	5	2	0	0	5	4	8	4	5	2	0	1	1	2	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11135463C>T	ENST00000321143.4	+	4	531	c.329C>T	c.(328-330)cCg>cTg	p.P110L	HCCS_ENST00000380763.3_Missense_Mutation_p.P110L|HCCS_ENST00000380762.4_Missense_Mutation_p.P110L	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	110					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						TCATCCATTCCGAGAGCAGAT	0.388													T	11135463	C	T	11135463	3	4	364	1	0	0	0	0	1	0	0	0	7045	652	23	1	339	1	HCCS	23	11135463	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	600058	11135463	144135097	14984	38486											
AMELX	265	broad.mit.edu	37	chrX	11316260	11316260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatcaatgttgacaggactgCattagtgagtctatatttcc	11	15	8	7	0	2	2	1	2	1	0	3	3	3	3	1	1	1	2	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11316260C>T	ENST00000380712.3	+	4	208	c.140C>T	c.(139-141)gCa>gTa	p.A47V	ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380736.1_Intron|AMELX_ENST00000348912.4_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000380714.3_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000380718.1_Intron	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	34					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						GACAGGACTGCATTAGTGAGT	0.358													T	11316260	C	T	11316260	3	4	364	1	0	0	0	0	1	0	0	0	569	710	25	2	150	2	AMELX	23	11316260	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180797	11316260	143954300	14985	38487											
MSL3	10943	broad.mit.edu	37	chrX	11783771	11783771	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaggctttctgagagcaGcgcttcacctcagcccaagc	9	8	10	14	1	3	2	2	2	1	1	3	3	3	2	2	1	4	3	2	1	1	2	rs147804390	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783771G>T	ENST00000337339.2	+	9	1121	c.1094G>T	c.(1093-1095)aGc>aTc	p.S365I	MSL3_ENST00000380693.3_Missense_Mutation_p.S199I|MSL3_ENST00000312196.4_Missense_Mutation_p.S365I|MSL3_ENST00000398527.2_Missense_Mutation_p.S353I|MSL3_ENST00000361672.2_Missense_Mutation_p.S216I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	365					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						TCTGAGAGCAGCGCTTCACCT	0.612													T	11783771	G	T	11783771	3	4	364	1	0	0	0	0	1	0	0	0	9955	971	34	4	1128	4	MSL3	23	11783771	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	467511	11783771	143486789	14986	38488											
MSL3	10943	broad.mit.edu	37	chrX	11783816	11783816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggacacatccgccaGcatgcccaagctcttcctgc	9	6	9	17	1	1	0	0	0	1	0	3	1	3	1	4	1	5	4	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:11783816G>T	ENST00000337339.2	+	9	1166	c.1139G>T	c.(1138-1140)aGc>aTc	p.S380I	MSL3_ENST00000380693.3_Missense_Mutation_p.S214I|MSL3_ENST00000312196.4_Missense_Mutation_p.S380I|MSL3_ENST00000398527.2_Missense_Mutation_p.S368I|MSL3_ENST00000467141.1_3'UTR|MSL3_ENST00000361672.2_Missense_Mutation_p.S231I	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	380					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						ACATCCGCCAGCATGCCCAAG	0.607													T	11783816	G	T	11783816	3	4	364	1	0	0	0	0	1	0	0	0	9955	971	34	4	1173	4	MSL3	23	11783816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45	11783816	143486744	14987	38489											
FRMPD4	9758	broad.mit.edu	37	chrX	12627867	12627867	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaggcaatcccttttgaCgaccctcggttagagagctg	10	9	10	12	2	0	2	0	1	0	1	2	4	1	2	2	2	1	3	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12627867C>T	ENST00000380682.1	+	3	692	c.186C>T	c.(184-186)gaC>gaT	p.D62D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	62	WW.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCCCTTTTGACGACCCTCGGT	0.512													T	12627867	C	T	12627867	2	4	364	1	0	0	0	0	0	0	0	1	6111	535	19	1		1	FRMPD4	23	12627867	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	844051	12627867	142642693	14988	38490											
FRMPD4	9758	broad.mit.edu	37	chrX	12701657	12701657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagattaaagtccaatcCtgtcaaagtacgcttctctg	12	11	8	10	1	2	1	1	0	1	1	5	1	4	1	2	1	1	3	2	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12701657C>A	ENST00000380682.1	+	6	1030	c.524C>A	c.(523-525)cCt>cAt	p.P175H		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	175					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AAGTCCAATCCTGTCAAAGTA	0.413													A	12701657	C	A	12701657	3	1	364	1	0	0	0	0	1	0	0	0	6111	681	24	4	546	4	FRMPD4	23	12701657	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73790	12701657	142568903	14989	38491											
FRMPD4	9758	broad.mit.edu	37	chrX	12722503	12722503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggggattagagacttttCttccctctgctgtgctgcaa	8	14	10	9	0	2	1	0	0	2	1	3	3	3	2	1	2	3	3	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12722503C>A	ENST00000380682.1	+	11	1602	c.1096C>A	c.(1096-1098)Ctt>Att	p.L366I		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	366	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGAGACTTTTCTTCCCTCTGC	0.373													A	12722503	C	A	12722503	3	1	364	1	0	0	0	0	1	0	0	0	6111	913	32	4	1138	4	FRMPD4	23	12722503	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20846	12722503	142548057	14990	38492											
FRMPD4	9758	broad.mit.edu	37	chrX	12734613	12734613	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacgctactagatgagggtCctgaaatgctggagaagcag	14	7	13	7	1	0	4	0	2	0	2	1	5	1	4	1	2	4	3	1	2	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734613C>A	ENST00000380682.1	+	15	2541	c.2035C>A	c.(2035-2037)Cct>Act	p.P679T		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	679					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						AGATGAGGGTCCTGAAATGCT	0.493													A	12734613	C	A	12734613	3	1	364	1	0	0	0	0	1	0	0	0	6111	855	30	4	2093	4	FRMPD4	23	12734613	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12110	12734613	142535947	14991	38493											
FRMPD4	9758	broad.mit.edu	37	chrX	12734712	12734712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cagagggcatccagtttgtgGaaaattctgtttatgcaaac	12	12	10	7	0	1	1	0	0	1	1	2	2	2	2	1	2	2	4	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734712G>A	ENST00000380682.1	+	15	2640	c.2134G>A	c.(2134-2136)Gaa>Aaa	p.E712K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	712					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCAGTTTGTGGAAAATTCTGT	0.498													A	12734712	G	A	12734712	3	1	364	1	0	0	0	0	1	0	0	0	6111	1175	41	2	2192	2	FRMPD4	23	12734712	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	12734712	142535848	14992	38494											
FRMPD4	9758	broad.mit.edu	37	chrX	12734904	12734904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctcaacctgtctgggTcaagcgatgacatcattgac	10	10	8	13	1	4	2	3	2	1	0	5	3	5	2	3	1	2	0	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12734904T>C	ENST00000380682.1	+	15	2832	c.2326T>C	c.(2326-2328)Tca>Cca	p.S776P		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	776					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTGTCTGGGTCAAGCGATGA	0.572													C	12734904	T	C	12734904	3	2	364	1	0	0	0	0	1	0	0	0	6111	1667	58	3	2384	3	FRMPD4	23	12734904	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	192	12734904	142535656	14993	38495											
FRMPD4	9758	broad.mit.edu	37	chrX	12735195	12735195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgccgtcgtctccacgCtgggagctctagaggctcta	8	10	11	12	3	3	1	0	0	3	1	5	2	3	2	2	2	2	3	2	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12735195C>A	ENST00000380682.1	+	15	3123	c.2617C>A	c.(2617-2619)Ctg>Atg	p.L873M		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	873					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CGTCTCCACGCTGGGAGCTCT	0.502													A	12735195	C	A	12735195	3	1	364	1	0	0	0	0	1	0	0	0	6111	796	28	4	2675	4	FRMPD4	23	12735195	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	291	12735195	142535365	14994	38496											
FRMPD4	9758	broad.mit.edu	37	chrX	12736536	12736536	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgactaccacttggccaaGcggatgtcatcactgcaaag	11	9	10	11	1	2	1	2	1	0	0	2	2	2	2	2	2	3	1	2	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12736536G>A	ENST00000380682.1	+	16	4097	c.3591G>A	c.(3589-3591)aaG>aaA	p.K1197K		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1197					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						ACTTGGCCAAGCGGATGTCAT	0.577													A	12736536	G	A	12736536	2	1	364	1	0	0	0	0	0	0	0	1	6111	962	34	2		2	FRMPD4	23	12736536	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1341	12736536	142534024	14995	38497											
PRPS2	5634	broad.mit.edu	37	chrX	12828159	12828159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggattctttgatattcctGtggataatttgtatgcggag	9	16	12	4	1	1	1	0	1	1	0	2	4	2	4	1	3	1	1	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828159G>A	ENST00000380668.5	+	4	552	c.424G>A	c.(424-426)Gtg>Atg	p.V142M	PRPS2_ENST00000398491.2_Missense_Mutation_p.V145M|PRPS2_ENST00000489404.1_Missense_Mutation_p.V142M	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	142					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TGATATTCCTGTGGATAATTT	0.428													A	12828159	G	A	12828159	3	1	364	1	0	0	0	0	1	0	0	0	12666	1377	48	2	447	2	PRPS2	23	12828159	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	91623	12828159	142442401	14996	38498											
PRPS2	5634	broad.mit.edu	37	chrX	12828249	12828249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatcattgtttcacctgacGcagggggagccaaaaggtat	11	10	12	8	1	2	1	2	1	0	0	2	2	2	2	2	3	1	4	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12828249G>A	ENST00000380668.5	+	4	642	c.514G>A	c.(514-516)Gca>Aca	p.A172T	PRPS2_ENST00000398491.2_Missense_Mutation_p.A175T|PRPS2_ENST00000489404.1_Missense_Mutation_p.A172T	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	172					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TTCACCTGACGCAGGGGGAGC	0.463													A	12828249	G	A	12828249	3	1	364	1	0	0	0	0	1	0	0	0	12666	1087	38	1	537	1	PRPS2	23	12828249	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	90	12828249	142442311	14997	38499											
PRPS2	5634	broad.mit.edu	37	chrX	12837722	12837722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccggatggtcctggtgggCgacgtgaaggaccgtgtggc	6	7	19	9	4	0	1	0	1	0	0	1	5	1	3	3	6	0	0	3	6	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12837722C>T	ENST00000380668.5	+	5	755	c.627C>T	c.(625-627)ggC>ggT	p.G209G	PRPS2_ENST00000398491.2_Silent_p.G212G	NM_001039091.2|NM_002765.4	NP_001034180.1|NP_002756.1	P11908	PRPS2_HUMAN	phosphoribosyl pyrophosphate synthetase 2	209					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity	p.G209G(1)		breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|urinary_tract(1)	16						TCCTGGTGGGCGACGTGAAGG	0.557													T	12837722	C	T	12837722	2	4	364	1	0	0	0	0	0	0	0	1	12666	755	27	1		1	PRPS2	23	12837722	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9473	12837722	142432838	14998	38500											
TLR7	51284	broad.mit.edu	37	chrX	12904193	12904193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttattatcgaaatccttGttatgtttcatattcaatag	11	19	5	6	1	2	0	2	0	0	0	4	1	3	0	1	0	0	3	1	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12904193G>A	ENST00000380659.3	+	3	705	c.566G>A	c.(565-567)tGt>tAt	p.C189Y		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383													A	12904193	G	A	12904193	3	1	364	1	0	0	0	0	1	0	0	0	16056	1377	48	2	572	2	TLR7	23	12904193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	66471	12904193	142366367	14999	38501											
TLR8	51311	broad.mit.edu	37	chrX	12937546	12937546	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctaaaaaacctaagggaGttactgcttgaagacaacca	18	7	7	9	0	0	2	0	1	0	1	0	3	0	3	3	1	5	2	3	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:12937546G>A	ENST00000218032.6	+	2	474	c.387G>A	c.(385-387)gaG>gaA	p.E129E	TLR8_ENST00000311912.5_Silent_p.E147E	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	129					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						ACCTAAGGGAGTTACTGCTTG	0.408													A	12937546	G	A	12937546	2	1	364	1	0	0	0	0	0	0	0	1	16057	1020	36	2		2	TLR8	23	12937546	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33353	12937546	142333014	15000	38502											
TCEANC	170082	broad.mit.edu	37	chrX	13680768	13680768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatctccaggagacagaTgtggtcagagctgtgtacag	11	8	14	8	0	2	3	1	0	1	3	3	5	2	3	1	2	3	3	1	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13680768T>C	ENST00000380600.1	+	2	228	c.141T>C	c.(139-141)gaT>gaC	p.D47D	TCEANC_ENST00000545566.1_Silent_p.D47D|TCEANC_ENST00000544987.1_Silent_p.D47D|TCEANC_ENST00000314720.4_Silent_p.D77D|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	47	TFIIS N-terminal.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGGAGACAGATGTGGTCAGAG	0.428													C	13680768	T	C	13680768	2	2	364	1	0	0	0	0	0	0	0	1	15778	1461	51	3		3	TCEANC	23	13680768	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	743222	13680768	141589792	15001	38503											
TCEANC	170082	broad.mit.edu	37	chrX	13681173	13681173	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcatagagcttctttaCgcagctttaactagttcttc	11	15	6	9	1	2	1	0	0	2	1	3	1	2	1	0	0	5	5	0	0	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13681173C>T	ENST00000380600.1	+	2	633	c.546C>T	c.(544-546)taC>taT	p.Y182Y	TCEANC_ENST00000545566.1_Silent_p.Y182Y|TCEANC_ENST00000544987.1_Silent_p.Y182Y|TCEANC_ENST00000314720.4_Silent_p.Y212Y|TCEANC_ENST00000490617.1_3'UTR			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	182	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCTTCTTTACGCAGCTTTAA	0.423													T	13681173	C	T	13681173	2	4	364	1	0	0	0	0	0	0	0	1	15778	547	19	1		1	TCEANC	23	13681173	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	405	13681173	141589387	15002	38504											
RAB9A	9367	broad.mit.edu	37	chrX	13727016	13727016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaataaagatttggaaGtggatggacattttgttacc	13	16	9	3	0	0	1	0	0	0	1	0	4	0	4	1	3	1	1	1	3	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13727016G>A	ENST00000464506.1	+	3	430	c.151G>A	c.(151-153)Gtg>Atg	p.V51M	RAB9A_ENST00000243325.5_3'UTR	NM_001195328.1|NM_004251.4	NP_001182257.1|NP_004242.1	P51151	RAB9A_HUMAN	RAB9A, member RAS oncogene family	51					protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome|lysosome|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						AGATTTGGAAGTGGATGGACA	0.418													A	13727016	G	A	13727016	3	1	364	1	0	0	0	0	1	0	0	0	13046	1029	36	2	153	2	RAB9A	23	13727016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45843	13727016	141543544	15003	38505											
OFD1	8481	broad.mit.edu	37	chrX	13775826	13775826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtctttcagaaagaactaCggaaagccgaaaaggctata	17	7	9	8	2	2	2	1	0	1	2	2	4	2	3	1	2	3	1	1	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:13775826C>T	ENST00000380567.1	+	15	1911	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R447W|OFD1_ENST00000340096.6_Missense_Mutation_p.R487W			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	487					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GAAAGAACTACGGAAAGCCGA	0.428													T	13775826	C	T	13775826	3	4	364	1	0	0	0	0	1	0	0	0	10914	527	19	1	1513	1	OFD1	23	13775826	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	48810	13775826	141494734	15004	38506											
FANCB	2187	broad.mit.edu	37	chrX	14863291	14863291	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcacatggcatcaagtaTggtgctgggaaaggatttgt	11	13	12	5	0	2	0	2	0	0	0	2	2	2	2	0	4	1	3	0	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14863291T>G	ENST00000398334.1	-	8	1881	c.1614A>C	c.(1612-1614)ccA>ccC	p.P538P	FANCB_ENST00000324138.3_Silent_p.P538P	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	538					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GCATCAAGTATGGTGCTGGGA	0.408								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	14863291	T	G	14863291	2	3	364	1	0	0	0	0	0	0	0	1	5712	1451	51	5		5	FANCB	23	14863291	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1087465	14863291	140407269	15005	38507											
FANCB	2187	broad.mit.edu	37	chrX	14868629	14868629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttggaatttacttacagCttcaaagaagatgtagtttt	13	16	8	4	0	1	2	1	0	0	2	1	3	1	3	0	1	3	4	0	1	6	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:14868629C>T	ENST00000398334.1	-	7	1761	c.1494G>A	c.(1492-1494)aaG>aaA	p.K498K	FANCB_ENST00000324138.3_Silent_p.K498K	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	498					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					TTACTTACAGCTTCAAAGAAG	0.353								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	14868629	C	T	14868629	2	4	364	1	0	0	0	0	0	0	0	1	5712	796	28	2		2	FANCB	23	14868629	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5338	14868629	140401931	15006	38508											
ASB9	140462	broad.mit.edu	37	chrX	15266936	15266936	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggacgtttgccttcAgcattcttggcctgggtgtc	5	13	11	12	1	2	0	1	0	1	0	4	1	3	1	3	3	2	2	3	3	0	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15266936A>G	ENST00000546332.1	-	7	1173	c.690T>C	c.(688-690)gcT>gcC	p.A230A	ASB9_ENST00000380488.4_Silent_p.A230A|ASB9_ENST00000380485.3_Silent_p.A230A|ASB9_ENST00000380483.3_Silent_p.A220A|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	230					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					GTTTGCCTTCAGCATTCTTGG	0.562													G	15266936	A	G	15266936	2	3	364	1	0	0	0	0	0	0	0	1	1035	175	7	3		3	ASB9	23	15266936	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	398307	15266936	140003624	15007	38509											
PIGA	5277	broad.mit.edu	37	chrX	15349838	15349838	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcgatttccataagcaTgggtgacaattataacctta	12	15	6	8	1	0	1	0	1	0	0	2	2	1	1	2	1	2	1	2	1	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15349838T>C	ENST00000333590.4	-	2	299	c.215A>G	c.(214-216)cAt>cGt	p.H72R	PIGA_ENST00000428964.1_Intron|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	72					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					TCCATAAGCATGGGTGACAAT	0.458													C	15349838	T	C	15349838	3	2	364	1	0	0	0	0	1	0	0	0	11961	1464	51	3	1259	3	PIGA	23	15349838	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	82902	15349838	139920722	15008	38510											
PIGA	5277	broad.mit.edu	37	chrX	15350018	15350018	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagagtgtagctgaggcaCggtggccattcccagctcct	8	8	14	11	1	0	2	0	1	0	1	2	4	2	2	3	3	2	4	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15350018C>T	ENST00000428964.1	-	0	134				PIGA_ENST00000333590.4_Missense_Mutation_p.R12H|PIGA_ENST00000542278.1_Intron|PIGA_ENST00000482148.1_5'UTR			P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A						C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					AGCTGAGGCACGGTGGCCATT	0.473													T	15350018	C	T	15350018	1	4	364	1	0	0	0	0	0	0	0	0	11961	536	19	1		1	PIGA	23	15350018	Translation_Start_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	180	15350018	139920542	15009	38511											
BMX	660	broad.mit.edu	37	chrX	15527469	15527469	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaaaaggggcagcagaaaAggatccattgaaattaagaa	20	5	11	5	0	0	4	0	1	0	3	1	5	1	5	1	3	1	2	1	3	7	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15527469A>T	ENST00000357607.2	+	3	344	c.156A>T	c.(154-156)aaA>aaT	p.K52N	BMX_ENST00000463891.1_3'UTR|BMX_ENST00000348343.6_Missense_Mutation_p.K52N|BMX_ENST00000342014.6_Missense_Mutation_p.K52N			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	52	PH.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					GCAGCAGAAAAGGATCCATTG	0.403													T	15527469	A	T	15527469	3	4	364	1	0	0	0	0	1	0	0	0	1479	69	3	5	162	5	BMX	23	15527469	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	177451	15527469	139743091	15010	38512											
ACE2	59272	broad.mit.edu	37	chrX	15584454	15584454	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaagaaattaaaggagAttcttggtttcaaattagcc	16	12	8	5	0	2	3	1	1	1	2	2	4	2	3	1	2	1	1	1	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15584454A>T	ENST00000427411.1	-	17	2252	c.2036T>A	c.(2035-2037)aTc>aAc	p.I679N	ACE2_ENST00000252519.3_Missense_Mutation_p.I679N	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	679					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	ATTAAAGGAGATTCTTGGTTT	0.383													T	15584454	A	T	15584454	3	4	364	1	0	0	0	0	1	0	0	0	137	333	12	5	393	5	ACE2	23	15584454	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	56985	15584454	139686106	15011	38513											
ACE2	59272	broad.mit.edu	37	chrX	15596323	15596323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggaatccttcattagCtccatttcttagcagaaaag	12	14	6	9	0	3	1	2	0	1	1	5	2	5	2	2	1	2	2	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15596323C>T	ENST00000427411.1	-	10	1402	c.1186G>A	c.(1186-1188)Gct>Act	p.A396T	ACE2_ENST00000252519.3_Missense_Mutation_p.A396T	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	396					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	CCTTCATTAGCTCCATTTCTT	0.433													T	15596323	C	T	15596323	3	4	364	1	0	0	0	0	1	0	0	0	137	797	28	2	1271	2	ACE2	23	15596323	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11869	15596323	139674237	15012	38514											
ACE2	59272	broad.mit.edu	37	chrX	15609980	15609980	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccattatttcattcaaacCtgttatcccaaagcacacaa	14	12	3	12	0	2	0	2	0	0	0	3	0	3	0	3	0	3	2	3	0	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15609980C>A	ENST00000427411.1	-	5	656		c.e5-1		ACE2_ENST00000252519.3_Splice_Site	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2						angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	TCATTCAAACCTGTTATCCCA	0.378													A	15609980	C	A	15609980	5	1	364	1	0	0	0	0	0	0	1	0	137	695	24	4	2038	4	ACE2	23	15609980	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13657	15609980	139660580	15013	38515											
ACE2	59272	broad.mit.edu	37	chrX	15618961	15618961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttgtccaaaaatgtcttgGcctgttcctcaatggtggac	9	13	9	10	0	2	0	1	0	1	0	4	1	4	1	3	3	0	1	3	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:15618961G>A	ENST00000427411.1	-	2	290	c.74C>T	c.(73-75)gCc>gTc	p.A25V	ACE2_ENST00000252519.3_Missense_Mutation_p.A25V	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	25					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AAATGTCTTGGCCTGTTCCTC	0.453													A	15618961	G	A	15618961	3	1	364	1	0	0	0	0	1	0	0	0	137	1203	42	2	2415	2	ACE2	23	15618961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8981	15618961	139651599	15014	38516											
GRPR	2925	broad.mit.edu	37	chrX	16170513	16170513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggacacctccatgctccaCtttgtcaccagcatctgtgc	7	11	8	15	0	2	0	1	0	1	0	4	1	4	1	4	1	3	2	4	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16170513C>T	ENST00000380289.2	+	3	1298	c.900C>T	c.(898-900)caC>caT	p.H300H		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	300					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CCATGCTCCACTTTGTCACCA	0.557													T	16170513	C	T	16170513	2	4	364	1	0	0	0	0	0	0	0	1	6863	564	20	2		2	GRPR	23	16170513	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	551552	16170513	139100047	15015	38517											
CTPS2	56474	broad.mit.edu	37	chrX	16688716	16688716	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttacccagaaaaggaatCttctttgtccttgcccaaga	11	13	7	10	0	2	2	0	0	2	2	3	3	3	3	3	1	2	1	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16688716C>A	ENST00000443824.1	-	11	1919	c.1176G>T	c.(1174-1176)aaG>aaT	p.K392N	CTPS2_ENST00000380241.3_Missense_Mutation_p.K392N|CTPS2_ENST00000359276.4_Missense_Mutation_p.K392N	NM_001144002.1	NP_001137474.1	Q9NRF8	PYRG2_HUMAN	CTP synthase 2	392	Glutamine amidotransferase type-1.				glutamine metabolic process|nucleobase, nucleoside and nucleotide interconversion|pyrimidine nucleotide biosynthetic process	cytosol	ATP binding|CTP synthase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Hepatocellular(33;0.0997)					GAAAAGGAATCTTCTTTGTCC	0.388													A	16688716	C	A	16688716	3	1	364	1	0	0	0	0	1	0	0	0	4056	912	32	4	616	4	CTPS2	23	16688716	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	518203	16688716	138581844	15016	38518											
RBBP7	5931	broad.mit.edu	37	chrX	16863952	16863952	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaacattttaactcaccAtttgccatatctgcatgatg	14	13	5	9	0	2	1	1	1	1	0	2	2	2	1	2	0	4	1	2	0	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16863952A>G	ENST00000380087.2	-	11	1568	c.1208T>C	c.(1207-1209)aTg>aCg	p.M403T	RBBP7_ENST00000380084.4_Splice_Site_p.M447T|RBBP7_ENST00000404022.1_Splice_Site_p.M394T			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	403					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TTAACTCACCATTTGCCATAT	0.363													G	16863952	A	G	16863952	5	3	364	1	0	0	0	0	0	0	1	0	13192	231	8	3	77	3	RBBP7	23	16863952	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	175236	16863952	138406608	15017	38519											
RBBP7	5931	broad.mit.edu	37	chrX	16870701	16870701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcatctttatgagattcGaaggtatggagttttaattt	11	19	8	3	1	2	1	1	1	1	1	3	4	2	2	0	2	0	2	0	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:16870701G>A	ENST00000380087.2	-	8	1296	c.936C>T	c.(934-936)ttC>ttT	p.F312F	RBBP7_ENST00000380084.4_Silent_p.F356F|RBBP7_ENST00000404022.1_Silent_p.F303F			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7	312					cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding	p.F312F(1)		biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					TATGAGATTCGAAGGTATGGA	0.338													A	16870701	G	A	16870701	2	1	364	1	0	0	0	0	0	0	0	1	13192	1049	37	1		1	RBBP7	23	16870701	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6749	16870701	138399859	15018	38520											
REPS2	9185	broad.mit.edu	37	chrX	17065504	17065504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggaactacaggataacaGcagttaccccgacgaaccct	14	5	10	12	2	0	0	0	0	0	0	0	5	0	2	3	2	6	2	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17065504G>A	ENST00000357277.3	+	6	977	c.806G>A	c.(805-807)aGc>aAc	p.S269N	REPS2_ENST00000303843.7_Missense_Mutation_p.S268N|REPS2_ENST00000380064.4_Missense_Mutation_p.S129N	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	269					epidermal growth factor receptor signaling pathway|protein complex assembly	cytoplasm	calcium ion binding|protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					CAGGATAACAGCAGTTACCCC	0.418													A	17065504	G	A	17065504	3	1	364	1	0	0	0	0	1	0	0	0	13317	971	34	2	828	2	REPS2	23	17065504	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	194803	17065504	138205056	15019	38521											
NHS	4810	broad.mit.edu	37	chrX	17710490	17710490	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgatcgccgagagcaaagaGcagctgcccccctttccatt	9	7	10	15	3	0	2	0	0	0	2	2	4	1	2	5	0	4	3	5	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17710490G>T	ENST00000380060.3	+	3	1092	c.754G>T	c.(754-756)Gca>Tca	p.A252S	NHS_ENST00000398097.3_Missense_Mutation_p.A75S	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	252						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGAGCAAAGAGCAGCTGCCCC	0.517													T	17710490	G	T	17710490	3	4	364	1	0	0	0	0	1	0	0	0	10487	971	34	4	802	4	NHS	23	17710490	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644986	17710490	137560070	15020	38522											
NHS	4810	broad.mit.edu	37	chrX	17744597	17744597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actatacctccatgcactttGactgtggtctcaaaggtaat	11	13	7	10	0	1	1	1	1	1	0	3	1	2	1	2	2	2	2	2	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17744597G>A	ENST00000380060.3	+	6	2646	c.2308G>A	c.(2308-2310)Gac>Aac	p.D770N	NHS_ENST00000398097.3_Missense_Mutation_p.D614N	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	770						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CATGCACTTTGACTGTGGTCT	0.493													A	17744597	G	A	17744597	3	1	364	1	0	0	0	0	1	0	0	0	10487	1290	45	2	2435	2	NHS	23	17744597	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34107	17744597	137525963	15021	38523											
NHS	4810	broad.mit.edu	37	chrX	17745136	17745136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaattcaagcaccgctacGggtaccacagtcattgaatg	12	10	8	11	2	3	1	2	1	1	0	3	1	3	1	2	1	3	3	2	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17745136G>A	ENST00000380060.3	+	6	3185	c.2847G>A	c.(2845-2847)acG>acA	p.T949T	NHS_ENST00000398097.3_Silent_p.T793T	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	949						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GCACCGCTACGGGTACCACAG	0.438													A	17745136	G	A	17745136	2	1	364	1	0	0	0	0	0	0	0	1	10487	1103	39	1		1	NHS	23	17745136	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	539	17745136	137525424	15022	38524											
RAI2	10742	broad.mit.edu	37	chrX	17818660	17818660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtttcctaaggggctctgCatttcccatggactcttccc	5	13	10	13	0	2	0	0	0	2	0	5	1	5	1	3	4	1	3	3	4	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818660C>T	ENST00000545871.1	-	3	1931	c.1471G>A	c.(1471-1473)Gca>Aca	p.A491T	RAI2_ENST00000331511.1_Missense_Mutation_p.A491T|RAI2_ENST00000415486.3_Missense_Mutation_p.A441T|RAI2_ENST00000360011.1_Missense_Mutation_p.A491T|RAI2_ENST00000451717.1_Missense_Mutation_p.A491T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	491					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGGGCTCTGCATTTCCCATG	0.478													T	17818660	C	T	17818660	3	4	364	1	0	0	0	0	1	0	0	0	13097	710	25	2	125	2	RAI2	23	17818660	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	73524	17818660	137451900	15023	38525											
RAI2	10742	broad.mit.edu	37	chrX	17818948	17818948	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgactatccatcatggctgGggcctcatgggacgtggcag	7	9	15	10	1	2	1	2	1	0	0	3	2	3	2	2	5	0	2	2	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17818948G>T	ENST00000545871.1	-	3	1643	c.1183C>A	c.(1183-1185)Cca>Aca	p.P395T	RAI2_ENST00000331511.1_Missense_Mutation_p.P395T|RAI2_ENST00000415486.3_Missense_Mutation_p.P345T|RAI2_ENST00000360011.1_Missense_Mutation_p.P395T|RAI2_ENST00000451717.1_Missense_Mutation_p.P395T	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	395					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					ATCATGGCTGGGGCCTCATGG	0.542													T	17818948	G	T	17818948	3	4	364	1	0	0	0	0	1	0	0	0	13097	1232	43	4	413	4	RAI2	23	17818948	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	288	17818948	137451612	15024	38526											
RAI2	10742	broad.mit.edu	37	chrX	17819072	17819072	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtctcagggggaggctcGgatttccggtgggctgccac	5	9	17	10	2	1	0	1	0	1	0	4	2	2	2	2	6	1	2	2	6	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:17819072G>A	ENST00000545871.1	-	3	1519	c.1059C>T	c.(1057-1059)tcC>tcT	p.S353S	RAI2_ENST00000331511.1_Silent_p.S353S|RAI2_ENST00000415486.3_Silent_p.S303S|RAI2_ENST00000360011.1_Silent_p.S353S|RAI2_ENST00000451717.1_Silent_p.S353S	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	353					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					GGGGAGGCTCGGATTTCCGGT	0.547													A	17819072	G	A	17819072	2	1	364	1	0	0	0	0	0	0	0	1	13097	1103	39	1		1	RAI2	23	17819072	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124	17819072	137451488	15025	38527											
BEND2	139105	broad.mit.edu	37	chrX	18195787	18195787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccttggagaacaaaataCgaaccaagtagcaggctgct	14	9	9	9	1	0	1	0	0	0	1	1	3	1	1	2	2	5	4	2	2	7	4	rs146293624		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18195787C>T	ENST00000380033.4	-	10	1664	c.1532G>A	c.(1531-1533)cGt>cAt	p.R511H	BEND2_ENST00000380030.3_Missense_Mutation_p.R420H	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	511	BEN 1.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GAACAAAATACGAACCAAGTA	0.428													T	18195787	C	T	18195787	3	4	364	1	0	0	0	0	1	0	0	0	1403	536	19	1	913	1	BEND2	23	18195787	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	376715	18195787	137074773	15026	38528											
BEND2	139105	broad.mit.edu	37	chrX	18234728	18234728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatcagtgggattatctgCtgtgacataagtggaatcat	11	13	11	6	0	4	1	3	1	1	0	4	3	4	3	0	2	1	1	0	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18234728C>T	ENST00000380033.4	-	2	283	c.151G>A	c.(151-153)Gca>Aca	p.A51T	BEND2_ENST00000380030.3_Missense_Mutation_p.A51T	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2	51										NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						GGATTATCTGCTGTGACATAA	0.408													T	18234728	C	T	18234728	3	4	364	1	0	0	0	0	1	0	0	0	1403	797	28	2	2326	2	BEND2	23	18234728	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38941	18234728	137035832	15027	38529											
SCML2	10389	broad.mit.edu	37	chrX	18264933	18264933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaatggcacttcccccaGcaaacaatggttctcctaca	11	9	8	13	0	1	0	0	0	1	0	3	1	2	1	3	3	3	3	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18264933G>A	ENST00000251900.4	-	13	1745	c.1586C>T	c.(1585-1587)gCt>gTt	p.A529V	SCML2_ENST00000398048.3_Missense_Mutation_p.A265V	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	529					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					ACTTCCCCCAGCAAACAATGG	0.378													A	18264933	G	A	18264933	3	1	364	1	0	0	0	0	1	0	0	0	14003	971	34	2	528	2	SCML2	23	18264933	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	30205	18264933	137005627	15028	38530											
SCML2	10389	broad.mit.edu	37	chrX	18276362	18276362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtttgtttacatagaCacagacttgagaaaaaatgc	15	12	7	7	0	0	3	0	1	0	3	1	4	1	3	1	0	2	2	1	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18276362C>T	ENST00000251900.4	-	10	1234	c.1075G>A	c.(1075-1077)Gtc>Atc	p.V359I	SCML2_ENST00000398048.3_Missense_Mutation_p.V95I	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	359					anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					TTTACATAGACACAGACTTGA	0.423													T	18276362	C	T	18276362	3	4	364	1	0	0	0	0	1	0	0	0	14003	478	17	2	1051	2	SCML2	23	18276362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11429	18276362	136994198	15029	38531											
CDKL5	6792	broad.mit.edu	37	chrX	18622549	18622549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtctgtgagcaacctttCtgaagccagggcccaaattg	11	9	10	11	0	2	2	0	2	2	0	2	2	2	2	3	1	3	1	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622549C>A	ENST00000379989.3	+	13	1790	c.1505C>A	c.(1504-1506)tCt>tAt	p.S502Y	CDKL5_ENST00000379996.3_Missense_Mutation_p.S502Y|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	502					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					AGCAACCTTTCTGAAGCCAGG	0.537													A	18622549	C	A	18622549	3	1	364	1	0	0	0	0	1	0	0	0	3187	913	32	4	1547	4	CDKL5	23	18622549	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346187	18622549	136648011	15030	38532											
CDKL5	6792	broad.mit.edu	37	chrX	18622863	18622863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccccttttcttcccagcaaCgtcctcataggcattctatg	7	13	6	15	1	3	0	1	0	2	0	5	0	5	0	4	1	2	2	4	1	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18622863C>T	ENST00000379989.3	+	13	2104	c.1819C>T	c.(1819-1821)Cgt>Tgt	p.R607C	CDKL5_ENST00000379996.3_Missense_Mutation_p.R607C|CDKL5_ENST00000463994.1_3'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	607					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TTCCCAGCAACGTCCTCATAG	0.522													T	18622863	C	T	18622863	3	4	364	1	0	0	0	0	1	0	0	0	3187	536	19	1	1861	1	CDKL5	23	18622863	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	314	18622863	136647697	15031	38533											
CDKL5	6792	broad.mit.edu	37	chrX	18643246	18643246	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttgtccatattttgctctAggtacccaattccgacagcc	8	13	7	13	1	1	0	0	0	1	0	3	1	3	0	4	1	3	3	4	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18643246A>G	ENST00000379989.3	+	18	2661		c.e18-1		CDKL5_ENST00000379996.3_Splice_Site	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5						neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					ATTTTGCTCTAGGTACCCAAT	0.458													G	18643246	A	G	18643246	5	3	364	1	0	0	0	0	0	0	1	0	3187	434	15	3	2437	3	CDKL5	23	18643246	Splice_Site	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20383	18643246	136627314	15032	38534											
RS1	6247	broad.mit.edu	37	chrX	18665341	18665341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactgttgagccgggccttgTttgcagtccacgaagaatac	9	10	12	10	2	0	2	0	1	0	1	1	4	1	2	3	1	3	3	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18665341T>C	ENST00000379984.3	-	4	336	c.296A>G	c.(295-297)aAc>aGc	p.N99S	CDKL5_ENST00000379996.3_Intron|CDKL5_ENST00000379989.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	99	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					CCGGGCCTTGTTTGCAGTCCA	0.532													C	18665341	T	C	18665341	3	2	364	1	0	0	0	0	1	0	0	0	13784	1725	60	3	390	3	RS1	23	18665341	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	22095	18665341	136605219	15033	38535											
CDKL5	6792	broad.mit.edu	37	chrX	18668631	18668631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgctccctatccagtaCtccaggtccgaggcacttcc	6	10	8	17	1	0	0	0	0	0	0	6	1	6	0	6	2	2	3	6	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18668631C>T	ENST00000379989.3	+	21	3184	c.2899C>T	c.(2899-2901)Ctc>Ttc	p.L967F	CDKL5_ENST00000379996.3_Missense_Mutation_p.L967F|RS1_ENST00000379984.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	967					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					CTATCCAGTACTCCAGGTCCG	0.567													T	18668631	C	T	18668631	3	4	364	1	0	0	0	0	1	0	0	0	3187	565	20	2	2973	2	CDKL5	23	18668631	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3290	18668631	136601929	15034	38536											
PPEF1	5475	broad.mit.edu	37	chrX	18768031	18768031	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatttcctctcacttgtacGgatattgatttacttcttga	9	18	5	9	1	2	2	1	2	2	0	4	3	3	3	1	1	2	1	1	1	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18768031G>A	ENST00000361511.4	+	7	851	c.357G>A	c.(355-357)acG>acA	p.T119T	PPEF1_ENST00000543630.1_Silent_p.T119T|PPEF1_ENST00000359763.6_Intron|PPEF1_ENST00000471570.1_3'UTR|PPEF1_ENST00000349874.5_Silent_p.T119T|PPEF1_ENST00000544635.1_Silent_p.T54T	NM_006240.2|NM_152224.1	NP_006231.2|NP_689410.1	O14829	PPE1_HUMAN	protein phosphatase, EF-hand calcium binding domain 1	119					detection of stimulus involved in sensory perception|protein dephosphorylation		calcium ion binding|iron ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	43	Hepatocellular(33;0.183)					TCACTTGTACGGATATTGATT	0.433													A	18768031	G	A	18768031	2	1	364	1	0	0	0	0	0	0	0	1	12384	1103	39	1		1	PPEF1	23	18768031	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99400	18768031	136502529	15035	38537											
PHKA2	5256	broad.mit.edu	37	chrX	18912469	18912469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtactcgggctgcggcacGcggttcagcaccgattcgac	6	7	14	14	7	1	0	1	0	0	0	3	2	1	0	1	4	3	5	1	4	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18912469G>A	ENST00000379942.4	-	32	4055	c.3390C>T	c.(3388-3390)cgC>cgT	p.R1130R	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GCTGCGGCACGCGGTTCAGCA	0.602													A	18912469	G	A	18912469	2	1	364	1	0	0	0	0	0	0	0	1	11921	1074	38	1		1	PHKA2	23	18912469	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	144438	18912469	136358091	15036	38538											
PHKA2	5256	broad.mit.edu	37	chrX	18926165	18926165	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagagatttgtgtcccaGctgggacccctgccaagagg	9	7	13	12	0	0	3	0	0	0	3	1	5	1	4	5	2	2	1	5	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18926165G>A	ENST00000379942.4	-	22	3035	c.2370C>T	c.(2368-2370)agC>agT	p.S790S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	790					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTGTGTCCCAGCTGGGACCCC	0.517													A	18926165	G	A	18926165	2	1	364	1	0	0	0	0	0	0	0	1	11921	962	34	2		2	PHKA2	23	18926165	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13696	18926165	136344395	15037	38539											
PHKA2	5256	broad.mit.edu	37	chrX	18938252	18938252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caacttctcatcacagtctgGatccagaaaagtcagatatg	14	10	7	10	0	4	2	3	0	2	2	6	3	5	3	1	1	1	0	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18938252G>A	ENST00000379942.4	-	18	2526	c.1861C>T	c.(1861-1863)Cca>Tca	p.P621S		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	621					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TCACAGTCTGGATCCAGAAAA	0.433													A	18938252	G	A	18938252	3	1	364	1	0	0	0	0	1	0	0	0	11921	1174	41	2	1910	2	PHKA2	23	18938252	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12087	18938252	136332308	15038	38540											
PHKA2	5256	broad.mit.edu	37	chrX	18954256	18954256	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tattccctccagggcctctcGgtattcttggacctggaaaa	8	12	9	12	1	2	0	0	0	2	0	5	2	4	2	4	4	0	1	4	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18954256G>A	ENST00000379942.4	-	11	1719	c.1054C>T	c.(1054-1056)Cga>Tga	p.R352*		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	352					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					AGGGCCTCTCGGTATTCTTGG	0.527													A	18954256	G	A	18954256	4	1	364	1	0	0	0	0	0	1	0	0	11921	1124	39	1	2745	1	PHKA2	23	18954256	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16004	18954256	136316304	15039	38541											
PHKA2	5256	broad.mit.edu	37	chrX	18966863	18966863	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagggttgatacttacaGcgactttatatgcagcttct	10	14	8	9	1	1	1	0	1	1	0	1	2	1	1	1	1	6	3	1	1	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:18966863G>T	ENST00000379942.4	-	5	1201	c.536C>A	c.(535-537)gCt>gAt	p.A179D		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	179					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GATACTTACAGCGACTTTATA	0.398													T	18966863	G	T	18966863	5	4	364	1	0	0	0	0	0	0	1	0	11921	985	34	4	3287	4	PHKA2	23	18966863	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12607	18966863	136303697	15040	38542											
GPR64	10149	broad.mit.edu	37	chrX	19013148	19013148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcttctttaaaccattaGtagcagttttactccagtct	9	17	5	10	0	3	0	0	0	3	0	4	0	4	0	2	0	4	4	2	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19013148G>T	ENST00000379878.3	-	27	2928	c.2687C>A	c.(2686-2688)aCt>aAt	p.T896N	GPR64_ENST00000356606.4_Missense_Mutation_p.T898N|GPR64_ENST00000360279.4_Missense_Mutation_p.T890N|GPR64_ENST00000340581.3_Missense_Mutation_p.T793N|GPR64_ENST00000357544.3_Missense_Mutation_p.T882N|GPR64_ENST00000354791.3_Missense_Mutation_p.T896N|GPR64_ENST00000379873.2_Intron|GPR64_ENST00000357991.3_Missense_Mutation_p.T909N|GPR64_ENST00000379869.3_Missense_Mutation_p.T912N|GPR64_ENST00000379876.1_Missense_Mutation_p.T888N	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	912					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					TAAACCATTAGTAGCAGTTTT	0.423													T	19013148	G	T	19013148	3	4	364	1	0	0	0	0	1	0	0	0	6759	1029	36	4	326	4	GPR64	23	19013148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	46285	19013148	136257412	15041	38543											
MAP3K15	389840	broad.mit.edu	37	chrX	19389497	19389497	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacagcaccaggtgaatcTgactgatggacgagctgtca	12	7	12	10	2	2	3	1	3	1	0	2	6	2	4	1	2	3	2	1	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389497T>C	ENST00000338883.4	-	23	3259	c.3260A>G	c.(3259-3261)cAg>cGg	p.Q1087R	MAP3K15_ENST00000359173.3_Missense_Mutation_p.Q522R|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.Q919R	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1087							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CAGGTGAATCTGACTGATGGA	0.537													C	19389497	T	C	19389497	3	2	364	1	0	0	0	0	1	0	0	0	9324	1580	55	3	709	3	MAP3K15	23	19389497	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	376349	19389497	135881063	15042	38544											
MAP3K15	389840	broad.mit.edu	37	chrX	19389624	19389624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatttgcttgatgtgtccaaCtgagagatgcaactcttcgg	9	13	11	8	1	1	3	0	2	1	1	3	5	2	3	1	1	4	2	1	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19389624C>T	ENST00000338883.4	-	23	3132	c.3133G>A	c.(3133-3135)Gtt>Att	p.V1045I	MAP3K15_ENST00000359173.3_Missense_Mutation_p.V480I|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.V877I	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1045							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					ATGTGTCCAACTGAGAGATGC	0.483													T	19389624	C	T	19389624	3	4	364	1	0	0	0	0	1	0	0	0	9324	565	20	2	836	2	MAP3K15	23	19389624	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127	19389624	135880936	15043	38545											
SH3KBP1	30011	broad.mit.edu	37	chrX	19626117	19626117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttatcggggaacacgcctCgtctgccgttcagctctcct	6	11	10	14	4	3	0	1	0	2	0	6	1	3	1	3	2	3	3	3	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19626117C>T	ENST00000397821.3	-	9	1234	c.944G>A	c.(943-945)cGa>cAa	p.R315Q	SH3KBP1_ENST00000541422.1_Missense_Mutation_p.R54Q|SH3KBP1_ENST00000477102.1_5'UTR|SH3KBP1_ENST00000379716.1_Missense_Mutation_p.R77Q|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.R278Q|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.R359Q	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	315	SH3 3.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						GAACACGCCTCGTCTGCCGTT	0.527													T	19626117	C	T	19626117	3	4	364	1	0	0	0	0	1	0	0	0	14349	884	31	1	1093	1	SH3KBP1	23	19626117	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	236493	19626117	135644443	15044	38546											
SH3KBP1	30011	broad.mit.edu	37	chrX	19713850	19713850	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacaccttcccaccatcCttcctctacctgcagagata	11	9	5	16	0	1	2	0	0	1	2	4	4	4	2	6	0	3	1	6	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19713850C>A	ENST00000397821.3	-	5	690	c.400G>T	c.(400-402)Gga>Tga	p.G134*	SH3KBP1_ENST00000379698.4_Nonsense_Mutation_p.G97*|SH3KBP1_ENST00000379697.3_Nonsense_Mutation_p.G134*	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	134	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						TCCCACCATCCTTCCTCTACC	0.473													A	19713850	C	A	19713850	4	1	364	1	0	0	0	0	0	1	0	0	14349	690	24	4	1669	4	SH3KBP1	23	19713850	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	87733	19713850	135556710	15045	38547											
CXorf23	256643	broad.mit.edu	37	chrX	19983521	19983521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatattttctatcttcttcCttacagtacttctgagttct	7	21	3	10	0	5	1	0	1	5	0	6	1	6	1	1	0	2	2	1	0	5	11			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:19983521C>A	ENST00000379687.3	-	3	948	c.915G>T	c.(913-915)aaG>aaT	p.K305N	CXorf23_ENST00000379682.4_Missense_Mutation_p.K305N|CXorf23_ENST00000356980.3_Missense_Mutation_p.K305N	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	305						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TATCTTCTTCCTTACAGTACT	0.403													A	19983521	C	A	19983521	3	1	364	1	0	0	0	0	1	0	0	0	4136	680	24	4	1169	4	CXorf23	23	19983521	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	269671	19983521	135287039	15046	38548											
MAP7D2	256714	broad.mit.edu	37	chrX	20034272	20034272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttttctttcaacaacagCtcctcctcagccttccgctt	6	15	4	16	1	3	0	2	0	1	0	6	0	6	0	4	0	5	3	4	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20034272C>T	ENST00000379651.3	-	10	1479	c.1461G>A	c.(1459-1461)gaG>gaA	p.E487E	MAP7D2_ENST00000443379.3_Silent_p.E442E|MAP7D2_ENST00000452324.3_Silent_p.E435E|MAP7D2_ENST00000543767.1_Silent_p.E372E|MAP7D2_ENST00000379643.5_Silent_p.E528E	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	487										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						tcaacaacagctcctcctcag	0.438													T	20034272	C	T	20034272	2	4	364	1	0	0	0	0	0	0	0	1	9343	796	28	2		2	MAP7D2	23	20034272	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	50751	20034272	135236288	15047	38549											
MAP7D2	256714	broad.mit.edu	37	chrX	20060732	20060732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agttgctgttcgttgcccccGcttcaccttctccacctgta	4	14	7	16	2	2	0	1	0	1	0	4	0	2	0	5	0	2	6	5	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20060732G>A	ENST00000379651.3	-	7	790	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	MAP7D2_ENST00000443379.3_Missense_Mutation_p.R213W|MAP7D2_ENST00000452324.3_Missense_Mutation_p.R206W|MAP7D2_ENST00000543767.1_Missense_Mutation_p.R143W|MAP7D2_ENST00000379643.5_Missense_Mutation_p.R299W	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	258										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CGTTGCCCCCGCTTCACCTTC	0.493													A	20060732	G	A	20060732	3	1	364	1	0	0	0	0	1	0	0	0	9343	1086	38	1	1462	1	MAP7D2	23	20060732	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	26460	20060732	135209828	15048	38550											
EIF1AX	1964	broad.mit.edu	37	chrX	20150322	20150322	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggaagctcgccgtaTgccttcagacttctagcttc	6	13	9	13	2	3	1	1	0	2	1	5	2	3	2	2	1	4	4	2	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20150322T>C	ENST00000379607.5	-	5	518	c.315A>G	c.(313-315)gcA>gcG	p.A105A	EIF1AX_ENST00000379593.1_Silent_p.A77A	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	105						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						GCTCGCCGTATGCCTTCAGAC	0.353													C	20150322	T	C	20150322	2	2	364	1	0	0	0	0	0	0	0	1	5031	1451	51	3		3	EIF1AX	23	20150322	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	89590	20150322	135120238	15049	38551											
RPS6KA3	6197	broad.mit.edu	37	chrX	20185731	20185731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgtgaagatattcaacGgttttagttatagtgaacag	12	14	11	4	2	1	3	1	2	0	1	1	3	1	3	0	1	3	2	0	1	7	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20185731G>A	ENST00000379565.3	-	17	1785	c.1578C>T	c.(1576-1578)acC>acT	p.T526T	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Silent_p.T497T|RPS6KA3_ENST00000379548.4_Silent_p.T496T|RPS6KA3_ENST00000544447.1_Silent_p.T498T	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	526	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						GATATTCAACGGTTTTAGTTA	0.353													A	20185731	G	A	20185731	2	1	364	1	0	0	0	0	0	0	0	1	13743	1103	39	1		1	RPS6KA3	23	20185731	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35409	20185731	135084829	15050	38552											
RPS6KA3	6197	broad.mit.edu	37	chrX	20190905	20190905	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagctttatgtatacatcTcttgcaaacagagtaggagc	12	13	9	7	0	1	1	0	0	1	1	2	2	1	2	0	1	5	5	0	1	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:20190905T>C	ENST00000379565.3	-	15	1519	c.1312A>G	c.(1312-1314)Aga>Gga	p.R438G	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Missense_Mutation_p.R409G|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.R408G|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.R410G	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	438	Protein kinase 2.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TGTATACATCTCTTGCAAACA	0.323													C	20190905	T	C	20190905	3	2	364	1	0	0	0	0	1	0	0	0	13743	1559	54	3	942	3	RPS6KA3	23	20190905	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5174	20190905	135079655	15051	38553											
CNKSR2	22866	broad.mit.edu	37	chrX	21579607	21579607	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagctacgacctatatCtatgccagtggaatataatt	14	11	8	8	1	1	0	0	0	1	0	1	2	1	1	2	2	3	2	2	2	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21579607C>A	ENST00000379510.3	+	12	1358	c.1322C>A	c.(1321-1323)tCt>tAt	p.S441Y	CNKSR2_ENST00000485012.1_Intron|CNKSR2_ENST00000425654.2_Intron|CNKSR2_ENST00000543067.1_Missense_Mutation_p.S392Y|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S441Y	NM_014927.3	NP_055742.2	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	441	DUF1170.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CGACCTATATCTATGCCAGTG	0.383													A	21579607	C	A	21579607	3	1	364	1	0	0	0	0	1	0	0	0	3638	913	32	4	1368	4	CNKSR2	23	21579607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1388702	21579607	133690953	15052	38554											
CNKSR2	22866	broad.mit.edu	37	chrX	21609230	21609230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttggaaaaagaaagatgCgaagagttacttttcacaga	16	10	10	5	1	1	4	1	0	0	4	1	6	1	5	0	1	2	2	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609230C>T	ENST00000425654.2	+	14	2138	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	CNKSR2_ENST00000543067.1_Missense_Mutation_p.A534V|CNKSR2_ENST00000379510.3_Missense_Mutation_p.A583V|CNKSR2_ENST00000279451.4_Missense_Mutation_p.A583V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	583					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AAGAAAGATGCGAAGAGTTAC	0.403													T	21609230	C	T	21609230	3	4	364	1	0	0	0	0	1	0	0	0	3638	768	27	1	1806	1	CNKSR2	23	21609230	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29623	21609230	133661330	15053	38555											
CNKSR2	22866	broad.mit.edu	37	chrX	21609293	21609293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctaaaggatgcatccctttAttggtatattaatgaggagg	12	13	10	6	0	0	1	0	1	0	0	1	3	1	3	2	4	1	2	2	4	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21609293A>G	ENST00000425654.2	+	14	2201	c.1721A>G	c.(1720-1722)tAt>tGt	p.Y574C	CNKSR2_ENST00000543067.1_Missense_Mutation_p.Y555C|CNKSR2_ENST00000379510.3_Missense_Mutation_p.Y604C|CNKSR2_ENST00000279451.4_Missense_Mutation_p.Y604C	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	604	PH.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GCATCCCTTTATTGGTATATT	0.328													G	21609293	A	G	21609293	3	3	364	1	0	0	0	0	1	0	0	0	3638	449	16	3	1869	3	CNKSR2	23	21609293	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	63	21609293	133661267	15054	38556											
CNKSR2	22866	broad.mit.edu	37	chrX	21627188	21627188	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggggctcctttctacaGatgagttgcgccagtcctta	8	12	10	11	1	2	2	1	1	1	1	4	2	4	2	3	2	2	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21627188G>T	ENST00000425654.2	+	19	2535		c.e19-1		CNKSR2_ENST00000543067.1_Splice_Site|CNKSR2_ENST00000279451.4_Splice_Site|CNKSR2_ENST00000379510.3_Splice_Site	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2						regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CCTTTCTACAGATGAGTTGCG	0.453													T	21627188	G	T	21627188	5	4	364	1	0	0	0	0	0	0	1	0	3638	956	33	4	2223	4	CNKSR2	23	21627188	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	17895	21627188	133643372	15055	38557											
KLHL34	257240	broad.mit.edu	37	chrX	21675840	21675840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaggaagccctcggcgcGcagggcctggtagccggtga	7	4	17	13	4	0	1	0	1	0	0	1	2	0	2	3	5	2	3	3	5	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21675840G>A	ENST00000379499.2	-	1	608	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	23								p.R23C(1)		cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CCCTCGGCGCGCAGGGCCTGG	0.642													A	21675840	G	A	21675840	3	1	364	1	0	0	0	0	1	0	0	0	8445	1087	38	1	1871	1	KLHL34	23	21675840	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	48652	21675840	133594720	15056	38558											
MBTPS2	51360	broad.mit.edu	37	chrX	21900676	21900676	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtgattggagacaatgAtgtcaaagatctaatagggt	14	11	11	5	0	3	4	2	2	1	2	3	5	3	4	0	2	0	0	0	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21900676A>G	ENST00000379484.5	+	11	1562	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G		NM_015884.3	NP_056968.1	O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	488					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						GGAGACAATGATGTCAAAGAT	0.453													G	21900676	A	G	21900676	3	3	364	1	0	0	0	0	1	0	0	0	9437	333	12	3	1505	3	MBTPS2	23	21900676	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	224836	21900676	133369884	15057	38559											
SMS	6611	broad.mit.edu	37	chrX	21985378	21985378	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggggatggcggagtcGgtgcacacctggcaggacca	9	4	18	10	2	0	0	0	0	0	0	1	4	0	3	2	7	2	3	2	7	0	0	rs138924455	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21985378G>A	ENST00000415881.2	+	0	204				SMS_ENST00000379404.1_Silent_p.S38S|SMS_ENST00000404933.2_Silent_p.S38S|SMS_ENST00000478094.1_3'UTR			P52788	SPSY_HUMAN	spermine synthase						methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	TGGCGGAGTCGGTGCACACCT	0.517													A	21985378	G	A	21985378	1	1	364	1	0	0	0	0	0	0	0	0	14907	1103	39	1		1	SMS	23	21985378	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	84702	21985378	133285182	15058	38560											
SMS	6611	broad.mit.edu	37	chrX	21990049	21990049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaatttacccacatggattgGtgttgctggaccttcagagt	9	13	11	8	0	1	1	1	0	0	1	1	4	1	3	2	3	2	2	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:21990049G>A	ENST00000404933.2	+	3	457	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	SMS_ENST00000379404.1_Intron|SMS_ENST00000415881.2_Intron|SMS_ENST00000478094.1_Intron	NM_004595.4	NP_004586.2	P52788	SPSY_HUMAN	spermine synthase	69					methionine metabolic process|spermine biosynthetic process	cytosol	spermidine synthase activity|spermine synthase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(2)	14					Spermine(DB00127)	ACATGGATTGGTGTTGCTGGA	0.368													A	21990049	G	A	21990049	3	1	364	1	0	0	0	0	1	0	0	0	14907	1261	44	2	215	2	SMS	23	21990049	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4671	21990049	133280511	15059	38561											
PHEX	5251	broad.mit.edu	37	chrX	22115094	22115094	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgattccacatgaaaacCgaaccagcgaggccatgtac	15	7	8	11	2	0	2	0	2	0	0	1	4	1	2	4	1	4	1	4	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:22115094C>T	ENST00000379374.4	+	8	1436	c.871C>T	c.(871-873)Cga>Tga	p.R291*	PHEX_ENST00000475778.1_3'UTR|PHEX_ENST00000535894.1_Nonsense_Mutation_p.R194*|PHEX_ENST00000537599.1_Nonsense_Mutation_p.R291*	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	291					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						ACATGAAAACCGAACCAGCGA	0.358													T	22115094	C	T	22115094	4	4	364	1	0	0	0	0	0	1	0	0	11896	644	23	1	901	1	PHEX	23	22115094	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125045	22115094	133155466	15060	38562											
DDX53	168400	broad.mit.edu	37	chrX	23018282	23018282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtggctggagtggccccttCggccatcagggaccgagagc	7	6	16	12	2	1	1	1	0	0	1	2	4	1	3	4	5	1	1	4	5	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23018282C>T	ENST00000327968.5	+	1	196	c.108C>T	c.(106-108)ttC>ttT	p.F36F	RP11-40F8.2_ENST00000455399.1_lincRNA	NM_182699.3	NP_874358.2	Q86TM3	DDX53_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 53	36						nucleus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(5)|kidney(4)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	35						GTGGCCCCTTCGGCCATCAGG	0.572													T	23018282	C	T	23018282	2	4	364	1	0	0	0	0	0	0	0	1	4405	883	31	1		1	DDX53	23	23018282	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	903188	23018282	132252278	15061	38563											
PTCHD1	139411	broad.mit.edu	37	chrX	23353126	23353126	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcggcgccagcttcagccGctaccaggtcgaggagagcg	7	5	15	14	5	1	1	1	0	0	1	3	3	1	1	3	3	4	3	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23353126G>A	ENST00000379361.4	+	1	994	c.134G>A	c.(133-135)cGc>cAc	p.R45H		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	45					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AGCTTCAGCCGCTACCAGGTC	0.647													A	23353126	G	A	23353126	3	1	364	1	0	0	0	0	1	0	0	0	12817	1087	38	1	136	1	PTCHD1	23	23353126	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	334844	23353126	131917434	15062	38564											
PTCHD1	139411	broad.mit.edu	37	chrX	23398059	23398059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggagtccagcttctgcGacactgtcagactgtttcag	7	11	13	10	1	3	1	2	0	1	1	4	3	4	2	1	2	2	2	1	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398059G>A	ENST00000379361.4	+	2	1563	c.703G>A	c.(703-705)Gac>Aac	p.D235N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	235					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CAGCTTCTGCGACACTGTCAG	0.512													A	23398059	G	A	23398059	3	1	364	1	0	0	0	0	1	0	0	0	12817	1058	37	1	709	1	PTCHD1	23	23398059	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	44933	23398059	131872501	15063	38565											
PTCHD1	139411	broad.mit.edu	37	chrX	23398314	23398314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagccgggatcatcaatCttactggtgggaaatataat	12	11	10	8	1	3	0	2	0	1	0	3	2	3	2	1	3	3	1	1	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23398314C>A	ENST00000379361.4	+	2	1818	c.958C>A	c.(958-960)Ctt>Att	p.L320I		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	320	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GATCATCAATCTTACTGGTGG	0.517													A	23398314	C	A	23398314	3	1	364	1	0	0	0	0	1	0	0	0	12817	913	32	4	964	4	PTCHD1	23	23398314	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	255	23398314	131872246	15064	38566											
PTCHD1	139411	broad.mit.edu	37	chrX	23411054	23411054	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggacacagctgaaggcgaGgaagcgaacacttacgagag	15	3	15	8	3	0	2	0	1	0	1	0	8	0	4	0	3	4	1	0	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411054G>T	ENST00000379361.4	+	3	2279	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	473					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						CTGAAGGCGAGGAAGCGAACA	0.483													T	23411054	G	T	23411054	3	4	364	1	0	0	0	0	1	0	0	0	12817	991	35	4	1429	4	PTCHD1	23	23411054	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12740	23411054	131859506	15065	38567											
PTCHD1	139411	broad.mit.edu	37	chrX	23411710	23411710	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgtatacatggatcgatAtgcctcctctctgggagccc	7	13	9	12	1	1	0	0	0	1	0	4	3	2	2	3	2	3	1	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23411710A>G	ENST00000379361.4	+	3	2935	c.2075A>G	c.(2074-2076)tAt>tGt	p.Y692C		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	692					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						ATGGATCGATATGCCTCCTCT	0.493													G	23411710	A	G	23411710	3	3	364	1	0	0	0	0	1	0	0	0	12817	449	16	3	2085	3	PTCHD1	23	23411710	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	656	23411710	131858850	15066	38568											
PRDX4	10549	broad.mit.edu	37	chrX	23685739	23685739	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccggaccacggccgccacCgaaggctgcttctgctgccg	5	6	12	18	5	1	0	0	0	1	0	2	2	2	1	6	3	3	3	6	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23685739C>T	ENST00000379341.4	+	1	177	c.52C>T	c.(52-54)Cga>Tga	p.R18*	PRDX4_ENST00000379331.3_Nonsense_Mutation_p.R18*|PRDX4_ENST00000495599.1_3'UTR	NM_006406.1	NP_006397.1	Q13162	PRDX4_HUMAN	peroxiredoxin 4	18					cell redox homeostasis|I-kappaB phosphorylation		thioredoxin peroxidase activity			lung(6)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CGGCCGCCACCGAAGgctgct	0.687													T	23685739	C	T	23685739	4	4	364	1	0	0	0	0	0	1	0	0	12553	644	23	1	54	1	PRDX4	23	23685739	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	274029	23685739	131584821	15067	38569											
CXorf58	254158	broad.mit.edu	37	chrX	23953347	23953347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgaggcccctgcattttCtggcggcagaaataacagct	10	9	11	11	2	1	2	0	1	1	1	1	3	1	2	2	3	3	3	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:23953347C>A	ENST00000379211.3	+	7	1139	c.590C>A	c.(589-591)tCt>tAt	p.S197Y		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	197										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						CCTGCATTTTCTGGCGGCAGA	0.423													A	23953347	C	A	23953347	3	1	364	1	0	0	0	0	1	0	0	0	4147	913	32	4	612	4	CXorf58	23	23953347	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	267608	23953347	131317213	15068	38570											
KLHL15	80311	broad.mit.edu	37	chrX	24007070	24007070	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaggctgctggtgaacAttctgaaagtaattcaatgc	15	10	9	7	0	2	2	1	2	1	0	2	2	2	2	0	2	4	3	0	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24007070A>G	ENST00000328046.8	-	4	1038	c.783T>C	c.(781-783)aaT>aaC	p.N261N		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	261										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						GCTGGTGAACATTCTGAAAGT	0.398													G	24007070	A	G	24007070	2	3	364	1	0	0	0	0	0	0	0	1	8429	214	8	3		3	KLHL15	23	24007070	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	53723	24007070	131263490	15069	38571											
EIF2S3	1968	broad.mit.edu	37	chrX	24084146	24084146	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatgtcaacaaacctggCtgtgaagttgatgaccttaa	12	13	9	7	0	1	4	1	4	0	0	1	4	1	4	2	1	2	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24084146C>A	ENST00000253039.4	+	8	1057	c.804C>A	c.(802-804)ggC>ggA	p.G268G		NM_001415.3	NP_001406.1	P41091	IF2G_HUMAN	eukaryotic translation initiation factor 2, subunit 3 gamma, 52kDa	268						cytosol	GTP binding|GTPase activity|protein binding|translation initiation factor activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(1)	12						ACAAACCTGGCTGTGAAGTTG	0.313													A	24084146	C	A	24084146	2	1	364	1	0	0	0	0	0	0	0	1	5050	784	28	4		4	EIF2S3	23	24084146	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	77076	24084146	131186414	15070	38572											
ZFX	7543	broad.mit.edu	37	chrX	24197419	24197419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttgttcctgatgacccaGattcagttgtaatccaagat	11	14	7	9	0	1	4	1	2	0	2	3	4	3	4	3	0	0	3	3	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197419G>A	ENST00000379177.1	+	6	605	c.178G>A	c.(178-180)Gat>Aat	p.D60N	ZFX_ENST00000304543.5_Missense_Mutation_p.D60N|ZFX_ENST00000338565.3_Missense_Mutation_p.D60N|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.D60N|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.D99N	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	60					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TGATGACCCAGATTCAGTTGT	0.388													A	24197419	G	A	24197419	3	1	364	1	0	0	0	0	1	0	0	0	17762	942	33	2	184	2	ZFX	23	24197419	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	113273	24197419	131073141	15071	38573											
ZFX	7543	broad.mit.edu	37	chrX	24197584	24197584	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcacattgcacagtcccaGatgatgttttagcttctgac	10	13	8	10	0	1	3	0	2	1	1	2	3	2	3	1	0	3	4	1	0	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24197584G>T	ENST00000379177.1	+	6	770	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	ZFX_ENST00000304543.5_Missense_Mutation_p.D115Y|ZFX_ENST00000338565.3_Missense_Mutation_p.D115Y|ZFX_ENST00000459724.1_Intron|ZFX_ENST00000379188.3_Missense_Mutation_p.D115Y|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000540034.1_Missense_Mutation_p.D154Y	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	115					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CACAGTCCCAGATGATGTTTT	0.443													T	24197584	G	T	24197584	3	4	364	1	0	0	0	0	1	0	0	0	17762	942	33	4	349	4	ZFX	23	24197584	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	165	24197584	131072976	15072	38574											
ZFX	7543	broad.mit.edu	37	chrX	24227140	24227140	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaaaggagaagacctgattCcaggcagtaccaaacaggtg	16	5	12	8	0	0	3	0	1	0	2	1	5	1	3	3	3	2	2	3	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24227140C>T	ENST00000379177.1	+	10	1644	c.1217C>T	c.(1216-1218)tCc>tTc	p.S406F	ZFX_ENST00000304543.5_Missense_Mutation_p.S406F|ZFX_ENST00000338565.3_Missense_Mutation_p.S356F|ZFX_ENST00000379188.3_Missense_Mutation_p.S406F|ZFX_ENST00000539115.1_Missense_Mutation_p.S177F|ZFX_ENST00000540034.1_Missense_Mutation_p.S445F	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						AGACCTGATTCCAGGCAGTAC	0.532													T	24227140	C	T	24227140	3	4	364	1	0	0	0	0	1	0	0	0	17762	855	30	2	1239	2	ZFX	23	24227140	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29556	24227140	131043420	15073	38575											
ZFX	7543	broad.mit.edu	37	chrX	24228932	24228932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttctcggataccaaagaGgtgcagcaacatgctcttat	12	11	8	10	1	2	1	0	0	2	1	3	2	2	2	1	2	5	3	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24228932G>T	ENST00000379177.1	+	11	2284	c.1857G>T	c.(1855-1857)gaG>gaT	p.E619D	ZFX_ENST00000304543.5_Missense_Mutation_p.E619D|ZFX_ENST00000338565.3_Missense_Mutation_p.E569D|ZFX_ENST00000379188.3_Missense_Mutation_p.E619D|ZFX_ENST00000539115.1_Missense_Mutation_p.E390D|ZFX_ENST00000540034.1_Missense_Mutation_p.E658D	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	619					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						ATACCAAAGAGGTGCAGCAAC	0.408													T	24228932	G	T	24228932	3	4	364	1	0	0	0	0	1	0	0	0	17762	991	35	4	1942	4	ZFX	23	24228932	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1792	24228932	131041628	15074	38576											
PDK3	5165	broad.mit.edu	37	chrX	24512864	24512864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgtcttaatagggagaGataatgcatgtgagaaaact	15	12	10	4	0	2	2	1	1	1	2	2	5	2	3	0	1	2	1	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24512864G>T	ENST00000441463.2	+	2	112	c.112G>T	c.(112-114)Gat>Tat	p.D38Y	PDK3_ENST00000493226.1_3'UTR|PDK3_ENST00000379162.4_Missense_Mutation_p.D38Y	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	38					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						AATAGGGAGAGATAATGCATG	0.388													T	24512864	G	T	24512864	3	4	364	1	0	0	0	0	1	0	0	0	11753	942	33	4	118	4	PDK3	23	24512864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	283932	24512864	130757696	15075	38577											
PDK3	5165	broad.mit.edu	37	chrX	24552111	24552111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatggcgccattacaaGaccacgcctgaagccgatga	11	6	10	14	4	0	3	0	2	0	1	1	4	1	3	5	1	2	1	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24552111G>T	ENST00000441463.2	+	11	1143	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N	PDK3_ENST00000379162.4_Missense_Mutation_p.K381N	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	381					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						GCCATTACAAGACCACGCCTG	0.418													T	24552111	G	T	24552111	3	4	364	1	0	0	0	0	1	0	0	0	11753	933	33	4	1185	4	PDK3	23	24552111	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39247	24552111	130718449	15076	38578											
PCYT1B	9468	broad.mit.edu	37	chrX	24690692	24690692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtattcacattaccttgcGccacaattggggagcgcgat	11	10	10	10	3	1	0	1	0	0	0	1	2	1	1	2	2	3	1	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24690692G>A	ENST00000379145.1	-	1	102	c.58C>T	c.(58-60)Cgc>Tgc	p.R20C		NM_001163264.1	NP_001156736.1	Q9Y5K3	PCY1B_HUMAN	phosphate cytidylyltransferase 1, choline, beta	38						endoplasmic reticulum	choline-phosphate cytidylyltransferase activity			breast(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	17					Choline(DB00122)	ATTACCTTGCGCCACAATTGG	0.413													A	24690692	G	A	24690692	3	1	364	1	0	0	0	0	1	0	0	0	11687	1087	38	1	1187	1	PCYT1B	23	24690692	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138581	24690692	130579868	15077	38579											
POLA1	5422	broad.mit.edu	37	chrX	24859935	24859935	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatatttatgataatgtCtttgatggttcggttagttg	10	18	11	2	1	1	3	0	2	1	1	2	4	1	3	0	2	0	3	0	2	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:24859935C>A	ENST00000379068.3	+	33	3946	c.3903C>A	c.(3901-3903)gtC>gtA	p.V1301V	POLA1_ENST00000379059.3_Silent_p.V1295V			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	1295					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	ATGATAATGTCTTTGATGGTT	0.423													A	24859935	C	A	24859935	2	1	364	1	0	0	0	0	0	0	0	1	12264	900	32	4		4	POLA1	23	24859935	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	169243	24859935	130410625	15078	38580											
MAGEB18	286514	broad.mit.edu	37	chrX	26158034	26158034	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggctttgagggatgaggAacagagaacccaagccagag	15	4	15	7	0	0	5	0	2	0	3	0	8	0	7	2	3	3	1	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26158034A>G	ENST00000325250.1	+	2	1119	c.932A>G	c.(931-933)gAa>gGa	p.E311G		NM_173699.3	NP_775970	Q96M61	MAGBI_HUMAN	melanoma antigen family B, 18	311							protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(17)|skin(2)|stomach(1)|urinary_tract(2)	33						AGGGATGAGGAACAGAGAACC	0.512													G	26158034	A	G	26158034	3	3	364	1	0	0	0	0	1	0	0	0	9250	246	9	3	934	3	MAGEB18	23	26158034	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1298099	26158034	129112526	15079	38581											
MAGEB6	158809	broad.mit.edu	37	chrX	26213143	26213143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccacatctgtatgaagacGctttgatagatgaggtagag	13	10	11	7	1	1	6	0	3	1	3	1	6	1	6	1	1	0	3	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:26213143G>A	ENST00000379034.1	+	2	1329	c.1180G>A	c.(1180-1182)Gct>Act	p.A394T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	394	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						GTATGAAGACGCTTTGATAGA	0.507													A	26213143	G	A	26213143	3	1	364	1	0	0	0	0	1	0	0	0	9254	1087	38	1	1182	1	MAGEB6	23	26213143	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	55109	26213143	129057417	15080	38582											
DCAF8L1	139425	broad.mit.edu	37	chrX	27997794	27997794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctctctgtaacaggtgaCgcacgaagaaccgaagcatg	13	6	12	10	3	1	2	0	1	1	1	2	5	1	2	1	1	4	4	1	1	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27997794C>T	ENST00000441525.1	-	1	1772	c.1658G>A	c.(1657-1659)cGt>cAt	p.R553H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	553										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TAACAGGTGACGCACGAAGAA	0.478													T	27997794	C	T	27997794	3	4	364	1	0	0	0	0	1	0	0	0	4311	536	19	1	148	1	DCAF8L1	23	27997794	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1784651	27997794	127272766	15081	38583											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998291	27998291	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgtttgttgggaaatcAcaataaaccagatgatgagg	14	11	12	4	0	1	4	1	3	0	1	1	5	1	5	1	2	1	2	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998291A>G	ENST00000441525.1	-	1	1275	c.1161T>C	c.(1159-1161)tgT>tgC	p.C387C		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	387										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						TTGGGAAATCACAATAAACCA	0.413													G	27998291	A	G	27998291	2	3	364	1	0	0	0	0	0	0	0	1	4311	157	6	3		3	DCAF8L1	23	27998291	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	497	27998291	127272269	15082	38584											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998474	27998474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcattttctcttgttacCacaacttttgaagctggccg	8	17	6	10	1	2	1	1	1	1	0	3	1	2	1	2	1	3	2	2	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27998474C>T	ENST00000441525.1	-	1	1092	c.978G>A	c.(976-978)gtG>gtA	p.V326V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	326										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTCTTGTTACCACAACTTTTG	0.433													T	27998474	C	T	27998474	2	4	364	1	0	0	0	0	0	0	0	1	4311	581	21	2		2	DCAF8L1	23	27998474	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	183	27998474	127272086	15083	38585											
DCAF8L1	139425	broad.mit.edu	37	chrX	27999353	27999353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatgtctgaggaggccgcCgtcaccgctgctactccaga	8	8	11	14	3	3	2	2	1	1	1	4	3	4	3	4	2	2	2	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:27999353C>T	ENST00000441525.1	-	1	213	c.99G>A	c.(97-99)acG>acA	p.T33T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	33										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AGGAGGCCGCCGTCACCGCTG	0.567													T	27999353	C	T	27999353	2	4	364	1	0	0	0	0	0	0	0	1	4311	639	23	1		1	DCAF8L1	23	27999353	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879	27999353	127271207	15084	38586											
MAGEB2	4113	broad.mit.edu	37	chrX	30237282	30237282	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaatccctgctcagttcCtgggactttcccaggagaaa	10	9	11	11	0	1	1	1	0	0	1	4	5	4	3	3	3	1	2	3	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30237282C>A	ENST00000378988.4	+	2	686	c.585C>A	c.(583-585)tcC>tcA	p.S195S		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	195	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						TGCTCAGTTCCTGGGACTTTC	0.483													A	30237282	C	A	30237282	2	1	364	1	0	0	0	0	0	0	0	1	9251	668	24	4		4	MAGEB2	23	30237282	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2237929	30237282	125033278	15085	38587											
MAGEB3	4114	broad.mit.edu	37	chrX	30254597	30254597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccttgtcagcaaaatggatCtccccaacaatgggacagtg	12	9	9	11	0	2	0	1	0	1	0	4	2	3	2	3	2	2	1	3	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30254597C>T	ENST00000361644.2	+	5	1293	c.556C>T	c.(556-558)Ctc>Ttc	p.L186F		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	186	MAGE.									NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						CAAAATGGATCTCCCCAACAA	0.468													T	30254597	C	T	30254597	3	4	364	1	0	0	0	0	1	0	0	0	9252	913	32	2	558	2	MAGEB3	23	30254597	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17315	30254597	125015963	15086	38588											
MAGEB3	4114	broad.mit.edu	37	chrX	30255066	30255066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccaaggccaaggctagcaGctcttcccacgcctagtgaa	10	8	9	14	1	1	1	0	1	1	0	3	1	3	1	4	2	2	3	4	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30255066G>A	ENST00000361644.2	+	5	1762	c.1025G>A	c.(1024-1026)aGc>aAc	p.S342N		NM_002365.4	NP_002356.2	O15480	MAGB3_HUMAN	melanoma antigen family B, 3	342										NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	25						AAGGCTAGCAGCTCTTCCCAC	0.498													A	30255066	G	A	30255066	3	1	364	1	0	0	0	0	1	0	0	0	9252	971	34	2	1027	2	MAGEB3	23	30255066	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	469	30255066	125015494	15087	38589											
NR0B1	190	broad.mit.edu	37	chrX	30327013	30327013	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgccggagccacgtgCgtttgctttgagctagtgag	5	10	16	10	4	0	2	0	2	0	0	0	3	0	3	2	2	5	4	2	2	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30327013C>A	ENST00000378970.4	-	1	702	c.468G>T	c.(466-468)acG>acT	p.T156T	NR0B1_ENST00000453287.1_Silent_p.T156T	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	156	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GAGCCACGTGCGTTTGCTTTG	0.677											OREG0019719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	30327013	C	A	30327013	2	1	364	1	0	0	0	0	0	0	0	1	10689	755	27	4		4	NR0B1	23	30327013	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71947	30327013	124943547	15088	38590											
CXorf21	80231	broad.mit.edu	37	chrX	30577669	30577669	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggctaaagactatatcTctggcttttgaggtctccag	9	12	11	9	1	2	2	0	1	2	1	4	2	2	2	1	4	0	2	1	4	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30577669T>A	ENST00000378962.3	-	3	1126	c.804A>T	c.(802-804)agA>agT	p.R268S		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	268										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						AGACTATATCTCTGGCTTTTG	0.403													A	30577669	T	A	30577669	3	1	364	1	0	0	0	0	1	0	0	0	4134	1548	54	5	105	5	CXorf21	23	30577669	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	250656	30577669	124692891	15089	38591											
TAB3	257397	broad.mit.edu	37	chrX	30864137	30864137	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaagaccatctctaatCtggtgagttgggtaaatgaa	15	11	10	5	0	2	4	0	3	2	1	3	4	2	4	1	2	0	2	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30864137C>A	ENST00000378928.1	-	3	255	c.209G>T	c.(208-210)aGa>aTa	p.R70I	TAB3_ENST00000378933.1_Intron|TAB3_ENST00000378930.3_Intron|TAB3_ENST00000378932.2_Intron|TAB3_ENST00000288422.2_Intron			Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	0					activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						catctctaatctggtgagttg	0.358													A	30864137	C	A	30864137	3	1	364	1	0	0	0	0	1	0	0	0	15594	928	32	4		4	TAB3	23	30864137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	286468	30864137	124406423	15090	38592											
TAB3	257397	broad.mit.edu	37	chrX	30872594	30872594	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctgtgtacagtgagtgTtgattccatggagatggttg	7	14	16	4	0	0	3	0	2	0	1	1	4	1	3	1	3	1	4	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:30872594T>C	ENST00000378933.1	-	3	1365	c.1188A>G	c.(1186-1188)caA>caG	p.Q396Q	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378930.3_Silent_p.Q396Q|TAB3_ENST00000378932.2_Silent_p.Q396Q|TAB3_ENST00000288422.2_Silent_p.Q396Q	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	396	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ACAGTGAGTGTTGATTCCATG	0.413													C	30872594	T	C	30872594	2	2	364	1	0	0	0	0	0	0	0	1	15594	1722	60	3		3	TAB3	23	30872594	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	8457	30872594	124397966	15091	38593											
FTHL17	53940	broad.mit.edu	37	chrX	31089585	31089585	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcagccaggccggcttcCggggaacaaatcttgcgcag	9	7	12	13	3	2	0	1	0	1	0	3	1	3	1	3	4	4	2	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31089585C>T	ENST00000359202.3	-	1	585	c.486G>A	c.(484-486)ccG>ccA	p.P162P		NM_031894.2	NP_114100.1	Q9BXU8	FHL17_HUMAN	ferritin, heavy polypeptide-like 17	162					cellular iron ion homeostasis|iron ion transport		ferric iron binding|oxidoreductase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(13)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	23						GGCCGGCTTCCGGGGAACAAA	0.612													T	31089585	C	T	31089585	2	4	364	1	0	0	0	0	0	0	0	1	6135	639	23	1		1	FTHL17	23	31089585	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	216991	31089585	124180975	15092	38594											
DMD	1756	broad.mit.edu	37	chrX	31645873	31645873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatcctgtaggacattggCagttgtttcagcttctgtaa	9	14	10	8	0	2	0	1	0	1	0	3	1	3	1	1	2	2	7	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31645873C>T	ENST00000357033.4	-	55	8340	c.8134G>A	c.(8134-8136)Gcc>Acc	p.A2712T	DMD_ENST00000378677.2_Missense_Mutation_p.A2708T|DMD_ENST00000541735.1_Missense_Mutation_p.A252T|DMD_ENST00000378707.3_Missense_Mutation_p.A252T|DMD_ENST00000343523.2_Missense_Mutation_p.A252T|DMD_ENST00000474231.1_Missense_Mutation_p.A252T|DMD_ENST00000359836.1_Missense_Mutation_p.A252T	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2712					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				AGGACATTGGCAGTTGTTTCA	0.473													T	31645873	C	T	31645873	3	4	364	1	0	0	0	0	1	0	0	0	4619	710	25	2	3171	2	DMD	23	31645873	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	556288	31645873	123624687	15093	38595											
DMD	1756	broad.mit.edu	37	chrX	31986618	31986618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtttgccgctgcccaatgCcatcctggagttcctgtaag	7	11	10	13	1	0	0	0	0	0	0	2	1	2	1	5	1	3	4	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:31986618C>T	ENST00000357033.4	-	45	6658	c.6452G>A	c.(6451-6453)gGc>gAc	p.G2151D	DMD_ENST00000378677.2_Missense_Mutation_p.G2147D|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000343523.2_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000359836.1_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2151					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCAATGCCATCCTGGAG	0.398													T	31986618	C	T	31986618	3	4	364	1	0	0	0	0	1	0	0	0	4619	739	26	2	4893	2	DMD	23	31986618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340745	31986618	123283942	15094	38596											
DMD	1756	broad.mit.edu	37	chrX	32382809	32382809	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacattctggtcaaaagtttCcatgtgtttctggtattcct	8	17	7	9	0	3	0	1	0	2	0	5	0	5	0	2	2	0	3	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32382809C>A	ENST00000357033.4	-	36	5250	c.5044G>T	c.(5044-5046)Gaa>Taa	p.E1682*	DMD_ENST00000378677.2_Nonsense_Mutation_p.E1678*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1682	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCAAAAGTTTCCATGTGTTTC	0.348													A	32382809	C	A	32382809	4	1	364	1	0	0	0	0	0	1	0	0	4619	864	30	4	6337	4	DMD	23	32382809	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	396191	32382809	122887751	15095	38597											
DMD	1756	broad.mit.edu	37	chrX	32429869	32429869	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcccagatgtacttgcCtgggcttcctgaggcatttg	6	14	11	10	0	0	3	0	2	0	1	2	3	2	3	3	2	2	3	3	2	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32429869C>A	ENST00000357033.4	-	30	4439	c.4233G>T	c.(4231-4233)caG>caT	p.Q1411H	DMD_ENST00000378677.2_Splice_Site_p.Q1407H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1411					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				ATGTACTTGCCTGGGCTTCCT	0.398													A	32429869	C	A	32429869	5	1	364	1	0	0	0	0	0	0	1	0	4619	695	24	4	7172	4	DMD	23	32429869	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47060	32429869	122840691	15096	38598											
DMD	1756	broad.mit.edu	37	chrX	32456421	32456421	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattgattagctcatcCatgactccgccatctgttag	8	14	6	13	1	3	2	2	2	1	0	6	2	6	2	4	0	1	2	4	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:32456421C>A	ENST00000357033.4	-	29	4214	c.4008G>T	c.(4006-4008)atG>atT	p.M1336I	DMD_ENST00000378677.2_Missense_Mutation_p.M1332I	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1336					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TTAGCTCATCCATGACTCCGC	0.378													A	32456421	C	A	32456421	3	1	364	1	0	0	0	0	1	0	0	0	4619	594	21	4	7496	4	DMD	23	32456421	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	26552	32456421	122814139	15097	38599											
FAM47A	158724	broad.mit.edu	37	chrX	34149819	34149819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatgggacaccggagtctCgggaggcttcaggcagaatt	10	7	16	8	2	2	2	1	0	1	2	3	6	2	5	1	5	0	2	1	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34149819C>T	ENST00000346193.3	-	1	628	c.577G>A	c.(577-579)Gag>Aag	p.E193K		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	193	Pro-rich.									NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCGGAGTCTCGGGAGGCTTC	0.612													T	34149819	C	T	34149819	3	4	364	1	0	0	0	0	1	0	0	0	5620	893	31	1	1802	1	FAM47A	23	34149819	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1693398	34149819	121120741	15098	38600											
TMEM47	83604	broad.mit.edu	37	chrX	34657422	34657422	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccttcgagatcccacgcaGatagaaatcaaacccaccag	14	5	7	15	3	1	3	1	0	0	3	3	4	2	3	4	0	1	1	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:34657422G>T	ENST00000275954.3	-	2	567	c.309C>A	c.(307-309)atC>atA	p.I103I		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	103						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						ATCCCACGCAGATAGAAATCA	0.428													T	34657422	G	T	34657422	2	4	364	1	0	0	0	0	0	0	0	1	16271	932	33	4		4	TMEM47	23	34657422	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	507603	34657422	120613138	15099	38601											
FAM47C	442444	broad.mit.edu	37	chrX	37027307	37027307	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctacctggagcctcCtgggactggagtgtctcatc	6	11	10	14	0	2	0	1	0	2	0	6	3	3	3	4	3	2	0	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37027307C>A	ENST00000358047.3	+	1	876	c.824C>A	c.(823-825)cCt>cAt	p.P275H		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	275				P -> S (in Ref. 2; BAC86381).						breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CTGGAGCCTCCTGGGACTGGA	0.612													A	37027307	C	A	37027307	3	1	364	1	0	0	0	0	1	0	0	0	5622	681	24	4	826	4	FAM47C	23	37027307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2369885	37027307	118243253	15100	38602											
LANCL3	347404	broad.mit.edu	37	chrX	37515055	37515055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtattcttactatggaaccGaatacttgggtaagtgaagg	12	13	11	5	1	1	1	0	1	1	0	1	3	1	2	1	3	3	2	1	3	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37515055G>A	ENST00000378621.3	+	2	990	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K	LANCL3_ENST00000378619.3_Missense_Mutation_p.E230K|TM4SF2_ENST00000465127.1_Intron	NM_198511.2	NP_940913.1	Q6ZV70	LANC3_HUMAN	LanC lantibiotic synthetase component C-like 3 (bacterial)	230							catalytic activity			lung(4)|pancreas(1)	5						CTATGGAACCGAATACTTGGG	0.418													A	37515055	G	A	37515055	3	1	364	1	0	0	0	0	1	0	0	0	8681	1059	37	1	694	1	LANCL3	23	37515055	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	487748	37515055	117755505	15101	38603											
CYBB	1536	broad.mit.edu	37	chrX	37642787	37642787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgcagcctgcctgaatttCaactgcatgctgattctctt	7	14	7	13	0	2	2	1	2	1	0	3	2	2	2	3	0	6	3	3	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:37642787C>T	ENST00000378588.4	+	3	253	c.186C>T	c.(184-186)ttC>ttT	p.F62F	CYBB_ENST00000545017.1_Silent_p.F30F|CYBB_ENST00000536160.1_5'UTR|TM4SF2_ENST00000465127.1_Intron	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	62	Ferric oxidoreductase.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						GCCTGAATTTCAACTGCATGC	0.502													T	37642787	C	T	37642787	2	4	364	1	0	0	0	0	0	0	0	1	4166	825	29	2		2	CYBB	23	37642787	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	127732	37642787	117627773	15102	38604											
BCOR	54880	broad.mit.edu	37	chrX	39922014	39922014	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccttgccatcggcattCtccacgtagtattcccctgt	6	13	8	14	2	1	0	0	0	1	0	4	0	2	0	5	2	2	4	5	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39922014C>A	ENST00000342274.4	-	9	4418	c.4056G>T	c.(4054-4056)gaG>gaT	p.E1352D	BCOR_ENST00000378455.4_Missense_Mutation_p.E1334D|BCOR_ENST00000378444.4_Missense_Mutation_p.E1386D|BCOR_ENST00000397354.3_Missense_Mutation_p.E1352D|BCOR_ENST00000378463.1_Missense_Mutation_p.E229D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1386					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CATCGGCATTCTCCACGTAGT	0.582			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39922014	C	A	39922014	3	1	364	1	0	0	0	0	1	0	0	0	1391	912	32	4	1137	4	BCOR	23	39922014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2279227	39922014	115348546	15103	38605											
BCOR	54880	broad.mit.edu	37	chrX	39933021	39933021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaatgccttgtttttcagCgacatgcttttgccattgtt	6	18	7	10	1	1	0	1	0	0	0	2	1	2	0	3	0	4	3	3	0	1	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:39933021C>T	ENST00000342274.4	-	4	1940	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	BCOR_ENST00000378455.4_Silent_p.S526S|BCOR_ENST00000378444.4_Silent_p.S526S|BCOR_ENST00000397354.3_Silent_p.S526S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	526					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGTTTTTCAGCGACATGCTTT	0.532			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39933021	C	T	39933021	2	4	364	1	0	0	0	0	0	0	0	1	1391	755	27	1		1	BCOR	23	39933021	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11007	39933021	115337539	15104	38606											
ATP6AP2	10159	broad.mit.edu	37	chrX	40458973	40458973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagatgcttctaagatcCttgttgacgctctgcaaaag	11	12	9	9	1	3	3	1	1	2	2	4	4	4	3	1	0	2	4	1	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:40458973C>T	ENST00000378438.4	+	7	876	c.718C>T	c.(718-720)Ctt>Ttt	p.L240F	ATP6AP2_ENST00000544975.1_Missense_Mutation_p.L164F|ATP6AP2_ENST00000486558.1_3'UTR|ATP6AP2_ENST00000535539.1_Missense_Mutation_p.L208F|ATP6AP2_ENST00000535777.1_Missense_Mutation_p.L162F	NM_005765.2	NP_005756.2	O75787	RENR_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 2	240					angiotensin maturation|positive regulation of transforming growth factor-beta1 production|regulation of MAPKKK cascade	external side of plasma membrane|integral to membrane	protein binding|receptor activity			endometrium(1)|large_intestine(1)|lung(2)	4						TTCTAAGATCCTTGTTGACGC	0.398													T	40458973	C	T	40458973	3	4	364	1	0	0	0	0	1	0	0	0	1172	681	24	2	744	2	ATP6AP2	23	40458973	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	525952	40458973	114811587	15105	38607											
USP9X	8239	broad.mit.edu	37	chrX	41025363	41025363	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggaatgaagtgttttgagCgattcttcaaagctgtgaat	12	14	11	4	1	2	3	1	3	1	0	2	5	2	4	0	1	2	2	0	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41025363C>T	ENST00000324545.8	+	16	2857	c.2224C>T	c.(2224-2226)Cga>Tga	p.R742*	USP9X_ENST00000378308.2_Nonsense_Mutation_p.R742*	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTGTTTTGAGCGATTCTTCAA	0.363													T	41025363	C	T	41025363	4	4	364	1	0	0	0	0	0	1	0	0	17192	760	27	1	2282	1	USP9X	23	41025363	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	566390	41025363	114245197	15106	38608											
USP9X	8239	broad.mit.edu	37	chrX	41027339	41027339	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacattgtgtgttttggatgGtgacaaagacagtgttaatt	11	15	11	4	0	0	2	0	1	0	1	0	3	0	3	0	2	0	2	0	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41027339G>A	ENST00000324545.8	+	18	3137	c.2504G>A	c.(2503-2505)gGt>gAt	p.G835D	USP9X_ENST00000378308.2_Missense_Mutation_p.G835D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GTTTTGGATGGTGACAAAGAC	0.373													A	41027339	G	A	41027339	3	1	364	1	0	0	0	0	1	0	0	0	17192	1261	44	2	2570	2	USP9X	23	41027339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1976	41027339	114243221	15107	38609											
USP9X	8239	broad.mit.edu	37	chrX	41029755	41029755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacttacacagataagttcCaatatgccttcaagccctga	15	10	5	11	0	1	2	1	1	0	1	2	2	2	2	3	0	4	1	3	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41029755C>A	ENST00000324545.8	+	20	3543	c.2910C>A	c.(2908-2910)tcC>tcA	p.S970S	USP9X_ENST00000378308.2_Silent_p.S970S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						AGATAAGTTCCAATATGCCTT	0.358													A	41029755	C	A	41029755	2	1	364	1	0	0	0	0	0	0	0	1	17192	581	21	4		4	USP9X	23	41029755	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2416	41029755	114240805	15108	38610											
USP9X	8239	broad.mit.edu	37	chrX	41048650	41048650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttatgttttgccttgattcCaacagccttagatgctctta	8	17	6	10	0	1	2	0	1	1	1	2	2	2	2	3	0	4	2	3	0	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048650C>A	ENST00000324545.8	+	26	4532	c.3899C>A	c.(3898-3900)cCa>cAa	p.P1300Q	USP9X_ENST00000378308.2_Missense_Mutation_p.P1300Q	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						GCCTTGATTCCAACAGCCTTA	0.393													A	41048650	C	A	41048650	3	1	364	1	0	0	0	0	1	0	0	0	17192	594	21	4	3997	4	USP9X	23	41048650	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18895	41048650	114221910	15109	38611											
USP9X	8239	broad.mit.edu	37	chrX	41048719	41048719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgacttactattgcactGtcacagcaagtaagtatctt	12	14	6	9	0	2	1	1	1	1	0	2	1	2	1	0	0	3	4	0	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41048719G>A	ENST00000324545.8	+	26	4601	c.3968G>A	c.(3967-3969)tGt>tAt	p.C1323Y	USP9X_ENST00000378308.2_Missense_Mutation_p.C1323Y	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTATTGCACTGTCACAGCAAG	0.338													A	41048719	G	A	41048719	3	1	364	1	0	0	0	0	1	0	0	0	17192	1377	48	2	4066	2	USP9X	23	41048719	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69	41048719	114221841	15110	38612											
USP9X	8239	broad.mit.edu	37	chrX	41073892	41073892	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatcttcttgattcttTggaacagtatgtcaaaggag	13	13	8	7	0	4	1	1	1	3	0	4	3	4	3	1	2	1	1	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41073892T>C	ENST00000324545.8	+	34	5894	c.5261T>C	c.(5260-5262)tTg>tCg	p.L1754S	USP9X_ENST00000378308.2_Missense_Mutation_p.L1754S	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CTTGATTCTTTGGAACAGTAT	0.323													C	41073892	T	C	41073892	3	2	364	1	0	0	0	0	1	0	0	0	17192	1821	63	3	5391	3	USP9X	23	41073892	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	25173	41073892	114196668	15111	38613											
USP9X	8239	broad.mit.edu	37	chrX	41075235	41075235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgatttgactatgactgggaAagagaatgtgcaatcaagtt	14	11	11	5	1	1	3	1	2	0	1	1	6	1	4	0	1	1	2	0	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41075235A>T	ENST00000324545.8	+	35	6048	c.5415A>T	c.(5413-5415)gaA>gaT	p.E1805D	USP9X_ENST00000378308.2_Missense_Mutation_p.E1805D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGACTGGGAAAGAGAATGTG	0.393													T	41075235	A	T	41075235	3	4	364	1	0	0	0	0	1	0	0	0	17192	11	1	5	5549	5	USP9X	23	41075235	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1343	41075235	114195325	15112	38614											
USP9X	8239	broad.mit.edu	37	chrX	41091710	41091710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacaaccctcagagaactgGccaacgagcacaagaaaatt	18	4	8	11	1	1	2	1	0	0	2	1	5	1	2	2	1	5	1	2	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41091710G>A	ENST00000324545.8	+	45	8279	c.7646G>A	c.(7645-7647)gGc>gAc	p.G2549D	USP9X_ENST00000378308.2_Missense_Mutation_p.G2533D	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CAGAGAACTGGCCAACGAGCA	0.433													A	41091710	G	A	41091710	3	1	364	1	0	0	0	0	1	0	0	0	17192	1203	42	2	7820	2	USP9X	23	41091710	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16475	41091710	114178850	15113	38615											
NYX	60506	broad.mit.edu	37	chrX	41333679	41333679	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggtcgccttccagcccGgcttcttcctgggccgcctc	1	10	11	19	3	1	0	0	0	1	0	5	0	3	0	7	3	1	1	7	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41333679G>T	ENST00000342595.2	+	2	1429	c.973G>T	c.(973-975)Ggc>Tgc	p.G325C	NYX_ENST00000378220.1_Missense_Mutation_p.G325C	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	325					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix		p.G325C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						CTTCCAGCCCGGCTTCTTCCT	0.677													T	41333679	G	T	41333679	3	4	364	1	0	0	0	0	1	0	0	0	10873	1116	39	4	979	4	NYX	23	41333679	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	241969	41333679	113936881	15114	38616											
GPR34	2857	broad.mit.edu	37	chrX	41554926	41554926	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgacgacaacttcagtcAgcagctggccttactcctcc	10	9	7	15	1	2	1	2	1	0	0	4	2	4	1	3	1	4	2	3	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:41554926A>G	ENST00000378142.4	+	3	324	c.40A>G	c.(40-42)Agc>Ggc	p.S14G	CASK_ENST00000378163.1_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000421587.2_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000378154.1_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.S14G	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	14						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						AACTTCAGTCAGCAGCTGGCC	0.428													G	41554926	A	G	41554926	3	3	364	1	0	0	0	0	1	0	0	0	6743	188	7	3	42	3	GPR34	23	41554926	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	221247	41554926	113715634	15115	38617											
MAOA	4128	broad.mit.edu	37	chrX	43542816	43542816	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttagtgttttggttttagaAgctcgggacagggttggagg	7	14	17	3	1	0	1	0	0	0	1	1	3	0	3	0	5	1	5	0	5	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:43542816A>C	ENST00000338702.3	+	2	252	c.129A>C	c.(127-129)gaA>gaC	p.E43D	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	43					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	TGGTTTTAGAAGCTCGGGACA	0.368													C	43542816	A	C	43542816	3	2	364	1	0	0	0	0	1	0	0	0	9300	69	3	5	135	5	MAOA	23	43542816	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1987890	43542816	111727744	15116	38618											
EFHC2	80258	broad.mit.edu	37	chrX	44091870	44091870	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcacttttaaagacttCttgtccaggcttcttaacgc	9	16	6	10	1	3	1	1	0	2	1	4	1	4	1	1	1	1	2	1	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44091870C>A	ENST00000420999.1	-	10	1560	c.1477G>T	c.(1477-1479)Gaa>Taa	p.E493*		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	493	DM10 3.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTAAAGACTTCTTGTCCAGGC	0.383													A	44091870	C	A	44091870	4	1	364	1	0	0	0	0	0	1	0	0	4986	922	32	4	796	4	EFHC2	23	44091870	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	549054	44091870	111178690	15117	38619											
KDM6A	7403	broad.mit.edu	37	chrX	44919321	44919321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaataaaactaaattacttCctagtattgaggaggcgtgg	15	11	10	5	1	0	2	0	1	0	1	1	3	1	3	1	3	2	1	1	3	8	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44919321C>T	ENST00000377967.4	+	13	1290	c.1249C>T	c.(1249-1251)Cct>Tct	p.P417S	KDM6A_ENST00000543216.1_Intron|KDM6A_ENST00000536777.1_Intron|KDM6A_ENST00000382899.4_Intron	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	417					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TAAATTACTTCCTAGTATTGA	0.433			"D, N, F, S"		"renal, oesophageal SCC, MM"								T	44919321	C	T	44919321	3	4	364	1	0	0	0	0	1	0	0	0	8195	855	30	2	1299	2	KDM6A	23	44919321	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	827451	44919321	110351239	15118	38620											
KDM6A	7403	broad.mit.edu	37	chrX	44920633	44920633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtacagcaacaagctcAttcatggtgtttgacaccac	12	10	7	12	0	2	1	2	1	0	0	3	1	3	1	2	1	4	4	2	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:44920633A>G	ENST00000377967.4	+	14	1435	c.1394A>G	c.(1393-1395)cAt>cGt	p.H465R	KDM6A_ENST00000543216.1_Missense_Mutation_p.H420R|KDM6A_ENST00000536777.1_Missense_Mutation_p.H420R|KDM6A_ENST00000382899.4_Missense_Mutation_p.H472R	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	465					histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						CAACAAGCTCATTCATGGTGT	0.328			"D, N, F, S"		"renal, oesophageal SCC, MM"								G	44920633	A	G	44920633	3	3	364	1	0	0	0	0	1	0	0	0	8195	217	8	3	1448	3	KDM6A	23	44920633	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1312	44920633	110349927	15119	38621											
ZNF674	641339	broad.mit.edu	37	chrX	46360572	46360572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaatgatgttttgaacacCtttcccatgaataatattta	14	17	4	6	0	0	3	0	3	0	0	1	3	1	3	2	0	1	1	2	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46360572C>A	ENST00000523374.1	-	6	662	c.452G>T	c.(451-453)aGg>aTg	p.R151M	ZNF674_ENST00000414387.2_Missense_Mutation_p.R145M	NM_001039891.2|NM_001146291.1|NM_001190417.1	NP_001034980.1|NP_001139763.1|NP_001177346.1	Q2M3X9	ZN674_HUMAN	zinc finger protein 674	151					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)	2						TTTTGAACACCTTTCCCATGA	0.308													A	46360572	C	A	46360572	3	1	364	1	0	0	0	0	1	0	0	0	18182	681	24	4	1297	4	ZNF674	23	46360572	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1439939	46360572	108909988	15120	38622											
SLC9A7	84679	broad.mit.edu	37	chrX	46472781	46472781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagccacaccaggcggggagCgtggtggttagtgggggacc	8	5	19	9	2	0	0	0	0	0	0	0	2	0	2	3	7	2	1	3	7	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46472781C>T	ENST00000328306.4	-	16	1894	c.1869G>A	c.(1867-1869)acG>acA	p.T623T	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	623					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						AGGCGGGGAGCGTGGTGGTTA	0.498													T	46472781	C	T	46472781	2	4	364	1	0	0	0	0	0	0	0	1	14813	755	27	1		1	SLC9A7	23	46472781	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	112209	46472781	108797779	15121	38623											
RP2	6102	broad.mit.edu	37	chrX	46713008	46713008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttctcattcaagactGtgagaactgtaacatctata	14	13	6	8	0	3	2	2	1	2	2	4	3	3	2	0	0	2	2	0	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:46713008G>A	ENST00000218340.3	+	2	361	c.200G>A	c.(199-201)tGt>tAt	p.C67Y		NM_006915.2	NP_008846.2	O75695	XRP2_HUMAN	retinitis pigmentosa 2 (X-linked recessive)	67	C-CAP/cofactor C-like.		C -> Y (in RP2).		cell morphogenesis|CTP biosynthetic process|GTP biosynthetic process|protein folding|UTP biosynthetic process|visual perception	cytoplasm|plasma membrane	ATP binding|GTP binding|GTPase activator activity|nucleoside diphosphate kinase activity|unfolded protein binding			NS(1)|large_intestine(4)|lung(5)|stomach(1)	11						ATTCAAGACTGTGAGAACTGT	0.433													A	46713008	G	A	46713008	3	1	364	1	0	0	0	0	1	0	0	0	13625	1377	48	2	206	2	RP2	23	46713008	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	240227	46713008	108557552	15122	38624											
NDUFB11	54539	broad.mit.edu	37	chrX	47002075	47002075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatggagacgccaaaGaagaagacaagtcgcatgtt	16	6	13	6	2	0	5	0	1	0	4	1	7	0	6	1	2	0	2	1	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47002075G>T	ENST00000377811.3	-	2	1100	c.276C>A	c.(274-276)ttC>ttA	p.F92L	NDUFB11_ENST00000276062.8_Missense_Mutation_p.F92L	NM_001135998.2	NP_001129470.1	Q9NX14	NDUBB_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa	92					respiratory electron transport chain|transport	integral to membrane|mitochondrial respiratory chain complex I				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	7						AGACGCCAAAGAAGAAGACAA	0.537													T	47002075	G	T	47002075	3	4	364	1	0	0	0	0	1	0	0	0	10356	933	33	4	223	4	NDUFB11	23	47002075	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	289067	47002075	108268485	15123	38625											
RBM10	8241	broad.mit.edu	37	chrX	47039292	47039292	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagccatcattttgcgCaacctgaacccacacagcac	12	6	5	18	1	1	1	1	1	0	0	1	1	1	1	4	0	5	2	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47039292C>T	ENST00000377604.3	+	10	1657	c.915C>T	c.(913-915)cgC>cgT	p.R305R	RBM10_ENST00000478410.1_3'UTR|RBM10_ENST00000329236.7_Silent_p.R228R|RBM10_ENST00000345781.6_Silent_p.R228R	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	305	RRM 2.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						TCATTTTGCGCAACCTGAACC	0.602													T	47039292	C	T	47039292	2	4	364	1	0	0	0	0	0	0	0	1	13199	697	25	2		2	RBM10	23	47039292	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	37217	47039292	108231268	15124	38626											
RBM10	8241	broad.mit.edu	37	chrX	47045959	47045959	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcctacaaggagacactGcacaagacaatggtgacccg	14	5	11	11	1	0	3	0	1	0	2	1	5	1	3	2	2	2	1	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47045959G>A	ENST00000377604.3	+	24	3496	c.2754G>A	c.(2752-2754)ctG>ctA	p.L918L	RBM10_ENST00000329236.7_Silent_p.L840L|RBM10_ENST00000345781.6_Silent_p.L841L	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	918					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGAGACACTGCACAAGACAA	0.617													A	47045959	G	A	47045959	2	1	364	1	0	0	0	0	0	0	0	1	13199	1306	46	2		2	RBM10	23	47045959	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	6667	47045959	108224601	15125	38627											
USP11	8237	broad.mit.edu	37	chrX	47098481	47098481	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccaggttccttgtggaGaagcactggtataagcagtg	9	9	14	9	0	0	1	0	0	0	1	1	2	1	1	3	4	2	4	3	4	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47098481G>T	ENST00000377107.2	+	2	543	c.189G>T	c.(187-189)gaG>gaT	p.E63D	USP11_ENST00000218348.3_Missense_Mutation_p.E106D			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	106					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCTTGTGGAGAAGCACTGGT	0.527													T	47098481	G	T	47098481	3	4	364	1	0	0	0	0	1	0	0	0	17144	933	33	4	324	4	USP11	23	47098481	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52522	47098481	108172079	15126	38628											
ZNF157	7712	broad.mit.edu	37	chrX	47272259	47272259	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaggcaaccctcacgAttcatcagagaactcacaca	15	6	7	13	1	4	2	4	1	0	2	4	5	4	2	1	1	2	1	1	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272259A>C	ENST00000377073.3	+	4	873	c.787A>C	c.(787-789)Att>Ctt	p.I263L		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	263					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						AACCCTCACGATTCATCAGAG	0.433													C	47272259	A	C	47272259	3	2	364	1	0	0	0	0	1	0	0	0	17838	333	12	5	801	5	ZNF157	23	47272259	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	173778	47272259	107998301	15127	38629											
ZNF157	7712	broad.mit.edu	37	chrX	47272857	47272857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgcctcattgaacatcagcGaattcacacaggagagagac	15	6	9	11	2	3	3	3	1	0	2	3	6	3	3	1	1	2	0	1	1	2	2	rs138071941		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47272857G>A	ENST00000377073.3	+	4	1471	c.1385G>A	c.(1384-1386)cGa>cAa	p.R462Q		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	462					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						GAACATCAGCGAATTCACACA	0.458													A	47272857	G	A	47272857	3	1	364	1	0	0	0	0	1	0	0	0	17838	1058	37	1	1399	1	ZNF157	23	47272857	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	598	47272857	107997703	15128	38630											
ZNF41	7592	broad.mit.edu	37	chrX	47307380	47307380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtatggattctctgatGcacgcttagtgttgatttct	6	18	9	8	1	2	2	0	2	2	0	4	3	3	3	1	1	1	4	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47307380G>A	ENST00000377065.4	-	5	2428	c.1789C>T	c.(1789-1791)Cat>Tat	p.H597Y	ZNF41_ENST00000313116.7_Missense_Mutation_p.H597Y|ZNF41_ENST00000397050.2_Missense_Mutation_p.H607Y	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	639						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				ATTCTCTGATGCACGCTTAGT	0.453													A	47307380	G	A	47307380	3	1	364	1	0	0	0	0	1	0	0	0	17990	1319	46	2	554	2	ZNF41	23	47307380	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34523	47307380	107963180	15129	38631											
ZNF41	7592	broad.mit.edu	37	chrX	47308164	47308164	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttgatttgagggtaaaGactttcccacattgagtaca	12	13	10	6	0	0	4	0	3	0	1	1	4	1	4	1	2	1	3	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47308164G>T	ENST00000377065.4	-	5	1644	c.1005C>A	c.(1003-1005)gtC>gtA	p.V335V	ZNF41_ENST00000313116.7_Silent_p.V335V|ZNF41_ENST00000397050.2_Silent_p.V345V	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	377						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				TGAGGGTAAAGACTTTCCCAC	0.408													T	47308164	G	T	47308164	2	4	364	1	0	0	0	0	0	0	0	1	17990	929	33	4		4	ZNF41	23	47308164	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	784	47308164	107962396	15130	38632											
ARAF	369	broad.mit.edu	37	chrX	47422624	47422624	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatctgcacatacacacaGgtgactgtccgggatggcat	11	9	10	11	1	1	1	0	1	1	0	2	2	2	2	1	3	3	2	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47422624G>T	ENST00000377045.4	+	3	290		c.e3-1		ARAF_ENST00000290277.6_Splice_Site|ARAF_ENST00000377039.2_Splice_Site	NM_001256196.1|NM_001654.4	NP_001243125.1|NP_001645.1	P10398	ARAF_HUMAN	v-raf murine sarcoma 3611 viral oncogene homolog						intracellular signal transduction|negative regulation of apoptosis|positive regulation of peptidyl-serine phosphorylation		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity			biliary_tract(1)|endometrium(4)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	29					Adenosine triphosphate(DB00171)	CATACACACAGGTGACTGTCC	0.547											OREG0019758	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	47422624	G	T	47422624	5	4	364	1	0	0	0	0	0	0	1	0	840	1014	35	4	102	4	ARAF	23	47422624	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	114460	47422624	107847936	15131	38633											
CFP	5199	broad.mit.edu	37	chrX	47485822	47485822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctgcaggtcctcccgCgtgactgctggcccgggatt	3	8	14	16	3	0	1	0	1	0	0	2	2	2	2	5	4	2	2	5	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47485822C>T	ENST00000247153.3	-	8	1278	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	CFP_ENST00000396992.3_Missense_Mutation_p.R346H|CFP_ENST00000377005.2_Missense_Mutation_p.R346H	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	346	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space		p.R346H(1)		breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						GGTCCTCCCGCGTGACTGCTG	0.622													T	47485822	C	T	47485822	3	4	364	1	0	0	0	0	1	0	0	0	3323	768	27	1	384	1	CFP	23	47485822	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63198	47485822	107784738	15132	38634											
CFP	5199	broad.mit.edu	37	chrX	47486268	47486268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagggtgattgcacgtccGttgttccatggtctggccca	6	11	12	12	2	1	1	0	1	1	0	3	1	3	1	3	3	1	3	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47486268G>A	ENST00000247153.3	-	7	1085	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	CFP_ENST00000396992.3_Missense_Mutation_p.R282W|CFP_ENST00000377005.2_Missense_Mutation_p.R282W	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	282	TSP type-1 4.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						TTGCACGTCCGTTGTTCCATG	0.667													A	47486268	G	A	47486268	3	1	364	1	0	0	0	0	1	0	0	0	3323	1144	40	1	581	1	CFP	23	47486268	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	446	47486268	107784292	15133	38635											
ELK1	2002	broad.mit.edu	37	chrX	47496428	47496428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctacctggaaggagagcttgGccgggctacggggcgcaatg	8	6	17	10	3	0	1	0	0	0	1	0	3	0	2	2	6	3	3	2	6	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47496428G>T	ENST00000247161.3	-	5	1271	c.1172C>A	c.(1171-1173)gCc>gAc	p.A391D	ELK1_ENST00000376983.3_Missense_Mutation_p.A391D|ELK1_ENST00000592066.1_Missense_Mutation_p.A337D	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	391	Sufficient for interaction with MAD2L2.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GGAGAGCTTGGCCGGGCTACG	0.612													T	47496428	G	T	47496428	3	4	364	1	0	0	0	0	1	0	0	0	5100	1203	42	4	122	4	ELK1	23	47496428	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10160	47496428	107774132	15134	38636											
ELK1	2002	broad.mit.edu	37	chrX	47497220	47497220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaggccggagccacttcccGatcctggggtccgttcgggt	4	8	16	13	4	0	0	0	0	0	0	4	3	3	2	5	6	1	1	5	6	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497220G>A	ENST00000247161.3	-	4	1115	c.1016C>T	c.(1015-1017)tCg>tTg	p.S339L	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Missense_Mutation_p.S339L|ELK1_ENST00000592066.1_Missense_Mutation_p.S285L	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	339					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GCCACTTCCCGATCCTGGGGT	0.692													A	47497220	G	A	47497220	3	1	364	1	0	0	0	0	1	0	0	0	5100	1059	37	1	282	1	ELK1	23	47497220	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	792	47497220	107773340	15135	38637											
ELK1	2002	broad.mit.edu	37	chrX	47497276	47497276	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctcgggctgagtggaagCtctaggtcccggggcttccg	5	8	17	11	3	1	1	0	1	1	0	4	2	3	2	2	6	1	4	2	6	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47497276C>T	ENST00000247161.3	-	4	1059	c.960G>A	c.(958-960)gaG>gaA	p.E320E	ELK1_ENST00000343894.4_Intron|ELK1_ENST00000376983.3_Silent_p.E320E|ELK1_ENST00000592066.1_Silent_p.E266E	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family	320					innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						TGAGTGGAAGCTCTAGGTCCC	0.721													T	47497276	C	T	47497276	2	4	364	1	0	0	0	0	0	0	0	1	5100	796	28	2		2	ELK1	23	47497276	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56	47497276	107773284	15136	38638											
ZNF81	347344	broad.mit.edu	37	chrX	47774563	47774563	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttatgaatataaagactttgGaaaatttgttcatccaagcc	15	14	6	6	0	1	2	1	1	0	1	2	3	2	3	2	1	1	1	2	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47774563G>A	ENST00000376954.1	+	6	886	c.518G>A	c.(517-519)gGa>gAa	p.G173E	ZNF81_ENST00000338637.7_Missense_Mutation_p.G173E			P51508	ZNF81_HUMAN	zinc finger protein 81	173						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AAAGACTTTGGAAAATTTGTT	0.333													A	47774563	G	A	47774563	3	1	364	1	0	0	0	0	1	0	0	0	18273	1174	41	2	532	2	ZNF81	23	47774563	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	277287	47774563	107495997	15137	38639											
ZNF81	347344	broad.mit.edu	37	chrX	47775287	47775287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactggagagagacatcaCaaatgcagtgagtgtgggaa	15	6	13	7	0	1	3	1	1	0	2	1	6	1	4	0	2	1	1	0	2	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47775287C>T	ENST00000376954.1	+	6	1610	c.1242C>T	c.(1240-1242)caC>caT	p.H414H	ZNF81_ENST00000338637.7_Silent_p.H414H			P51508	ZNF81_HUMAN	zinc finger protein 81	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				AGAGACATCACAAATGCAGTG	0.423													T	47775287	C	T	47775287	2	4	364	1	0	0	0	0	0	0	0	1	18273	477	17	2		2	ZNF81	23	47775287	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	724	47775287	107495273	15138	38640											
ZNF182	7569	broad.mit.edu	37	chrX	47835672	47835672	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatttttgggtaaaggctTtcccacattctgtacattta	9	18	7	7	0	1	1	0	1	1	0	2	1	2	1	1	2	1	3	1	2	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:47835672T>G	ENST00000396965.1	-	7	2164	c.1814A>C	c.(1813-1815)aAa>aCa	p.K605T	ZNF182_ENST00000305127.6_Missense_Mutation_p.K605T|ZNF182_ENST00000376943.3_Missense_Mutation_p.K586T	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						GGTAAAGGCTTTCCCACATTC	0.438													G	47835672	T	G	47835672	3	3	364	1	0	0	0	0	1	0	0	0	17851	1841	64	5	109	5	ZNF182	23	47835672	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	60385	47835672	107434888	15139	38641											
SSX5	6758	broad.mit.edu	37	chrX	48054794	48054794	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcatcgtctccgttcaTggcaccgggagcactctgtc	8	9	11	13	3	3	0	1	0	2	0	6	1	3	1	2	3	1	4	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48054794T>C	ENST00000311798.1	-	2	53	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SSX5_ENST00000347757.1_Start_Codon_SNP_p.M1V|SSX5_ENST00000376923.1_Start_Codon_SNP_p.M1V	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTCCGTTCATGGCACCGGGA	0.532													C	48054794	T	C	48054794	1	2	364	1	0	0	0	0	0	0	0	0	15304	1464	51	3		3	SSX5	23	48054794	Translation_Start_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	219122	48054794	107215766	15140	38642											
SSX1	6756	broad.mit.edu	37	chrX	48125807	48125807	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagatcagtgaccctgaGgaagatgacgagtaactccg	14	6	13	8	2	1	5	1	3	0	2	2	9	2	6	2	1	1	1	2	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48125807G>A	ENST00000376919.3	+	7	688	c.552G>A	c.(550-552)gaG>gaA	p.E184E		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						GTGACCCTGAGGAAGATGACG	0.488			T	SS18	synovial sarcoma								A	48125807	G	A	48125807	2	1	364	1	0	0	0	0	0	0	0	1	15299	991	35	2		2	SSX1	23	48125807	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71013	48125807	107144753	15141	38643											
PORCN	64840	broad.mit.edu	37	chrX	48368273	48368273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgtctcctgcctactgCccagcagggccttgaccaga	7	8	11	15	0	1	2	0	1	1	1	2	2	1	2	5	2	4	2	5	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48368273C>T	ENST00000359882.4	+	2	244	c.65C>T	c.(64-66)gCc>gTc	p.A22V	PORCN_ENST00000326194.6_Missense_Mutation_p.A22V|PORCN_ENST00000355961.4_Missense_Mutation_p.A22V|PORCN_ENST00000355092.3_Missense_Mutation_p.A22V|PORCN_ENST00000537758.1_Missense_Mutation_p.A22V|PORCN_ENST00000486272.1_Intron|PORCN_ENST00000361988.3_Missense_Mutation_p.A22V|PORCN_ENST00000367574.4_5'UTR			Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	22	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGCCTACTGCCCAGCAGGGC	0.607													T	48368273	C	T	48368273	3	4	364	1	0	0	0	0	1	0	0	0	12335	739	26	2	67	2	PORCN	23	48368273	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	242466	48368273	106902287	15142	38644											
PORCN	64840	broad.mit.edu	37	chrX	48369778	48369778	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatggtttgggtcgtgctgCtcagcctcctgtgctacctc	4	13	11	13	1	1	0	1	0	0	0	4	0	2	0	3	2	5	4	3	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48369778C>A	ENST00000367574.4	+	3	524	c.19C>A	c.(19-21)Ctc>Atc	p.L7I	PORCN_ENST00000326194.6_Missense_Mutation_p.L78I|PORCN_ENST00000355961.4_Missense_Mutation_p.L78I|PORCN_ENST00000355092.3_Missense_Mutation_p.L78I|PORCN_ENST00000537758.1_Missense_Mutation_p.L78I|PORCN_ENST00000361988.3_Missense_Mutation_p.L78I|PORCN_ENST00000359882.4_Missense_Mutation_p.L78I	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	78					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGTCGTGCTGCTCAGCCTCCT	0.567											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48369778	C	A	48369778	3	1	364	1	0	0	0	0	1	0	0	0	12335	797	28	4	238	4	PORCN	23	48369778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1505	48369778	106900782	15143	38645											
PORCN	64840	broad.mit.edu	37	chrX	48370738	48370738	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagatgattgtggccatgaAggcagtgtctctgggcttcg	8	11	14	8	1	1	3	0	2	1	1	3	3	1	3	1	3	0	2	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48370738A>T	ENST00000367574.4	+	5	690	c.185A>T	c.(184-186)aAg>aTg	p.K62M	PORCN_ENST00000326194.6_Missense_Mutation_p.K133M|PORCN_ENST00000355961.4_Missense_Mutation_p.K133M|PORCN_ENST00000355092.3_Missense_Mutation_p.K133M|PORCN_ENST00000537758.1_Missense_Mutation_p.K133M|PORCN_ENST00000361988.3_Missense_Mutation_p.K133M|PORCN_ENST00000359882.4_Missense_Mutation_p.K133M	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	133	Leu-rich.				Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCCATGAAGGCAGTGTCT	0.607													T	48370738	A	T	48370738	3	4	364	1	0	0	0	0	1	0	0	0	12335	72	3	5	412	5	PORCN	23	48370738	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	960	48370738	106899822	15144	38646											
PORCN	64840	broad.mit.edu	37	chrX	48372938	48372938	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggtgtccaagccactgAatgtggagctgcctcggtca	8	9	13	11	2	1	2	1	2	0	0	3	3	2	3	3	3	3	1	3	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48372938A>C	ENST00000367574.4	+	8	1130	c.625A>C	c.(625-627)Aat>Cat	p.N209H	PORCN_ENST00000326194.6_Missense_Mutation_p.N291H|PORCN_ENST00000355961.4_Missense_Mutation_p.N286H|PORCN_ENST00000355092.3_Missense_Mutation_p.N285H|PORCN_ENST00000537758.1_Missense_Mutation_p.N291H|PORCN_ENST00000361988.3_Missense_Mutation_p.N280H|PORCN_ENST00000359882.4_Missense_Mutation_p.N285H	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	291					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAAGCCACTGAATGTGGAGCT	0.517													C	48372938	A	C	48372938	3	2	364	1	0	0	0	0	1	0	0	0	12335	246	9	5	905	5	PORCN	23	48372938	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2200	48372938	106897622	15145	38647											
TBC1D25	4943	broad.mit.edu	37	chrX	48418637	48418638	+	Frame_Shift_Ins	INS	-	-	C																															atgaggtagagctggttggaINSccccccagccaagtggcaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48418637_48418638insC	ENST00000376771.4	+	6	1682_1683	c.1341_1342insC	c.(1342-1344)cccfs	p.P448fs	TBC1D25_ENST00000537536.1_Frame_Shift_Ins_p.P194fs	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	448						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGCTGGTTGGACCCCCCAGCCA	0.614													C	48418638	-	C	48418637	7	5	364	1	0	1	1	0	0	0	0	0	15712	262	10	0	1363	0	TBC1D25	23	48418637	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	45699	48418637	106851923	15146	38648											
SUV39H1	6839	broad.mit.edu	37	chrX	48557420	48557420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaagtcgagtacctgtgCgattacaagaagatccgcgt	11	11	11	8	4	0	3	0	1	0	2	2	5	1	3	2	0	3	1	2	0	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48557420C>T	ENST00000376687.3	+	2	337	c.147C>T	c.(145-147)tgC>tgT	p.C49C	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Silent_p.C60C|SUV39H1_ENST00000453214.2_5'UTR	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	49	Chromo.|Interaction with SIRT1.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						AGTACCTGTGCGATTACAAGA	0.572													T	48557420	C	T	48557420	2	4	364	1	0	0	0	0	0	0	0	1	15508	776	27	1		1	SUV39H1	23	48557420	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138783	48557420	106713140	15147	38649											
SUV39H1	6839	broad.mit.edu	37	chrX	48559102	48559102	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcgtccgcaccctggaGaagattcgcaagaacagctt	10	7	13	11	3	0	3	0	0	0	3	2	4	1	3	2	3	2	3	2	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48559102G>T	ENST00000376687.3	+	3	976	c.786G>T	c.(784-786)gaG>gaT	p.E262D	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.E273D|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R110I	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	262	Mediates interaction with MECOM (By similarity).|SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						GCACCCTGGAGAAGATTCGCA	0.572													T	48559102	G	T	48559102	3	4	364	1	0	0	0	0	1	0	0	0	15508	933	33	4	796	4	SUV39H1	23	48559102	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1682	48559102	106711458	15148	38650											
HDAC6	10013	broad.mit.edu	37	chrX	48663861	48663861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagcttcccggaaggccctGagcggctccatgccatcaag	8	6	11	16	2	1	1	1	1	0	0	3	2	3	2	5	3	3	2	5	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48663861G>A	ENST00000334136.5	+	5	506	c.328G>A	c.(328-330)Gag>Aag	p.E110K	HDAC6_ENST00000376619.2_Missense_Mutation_p.E110K|HDAC6_ENST00000444343.2_Missense_Mutation_p.E124K|HDAC6_ENST00000413163.2_Missense_Mutation_p.E55K|HDAC6_ENST00000469223.1_3'UTR			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	110	Histone deacetylase 1.				aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	GGAAGGCCCTGAGCGGCTCCA	0.592													A	48663861	G	A	48663861	3	1	364	1	0	0	0	0	1	0	0	0	7066	1291	45	2	342	2	HDAC6	23	48663861	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	104759	48663861	106606699	15149	38651											
PIM2	11040	broad.mit.edu	37	chrX	48772384	48772384	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacggcgtaggtctatcaGgatgttctcatccttgatgt	7	13	11	10	2	3	1	2	1	2	0	5	2	4	2	2	3	0	2	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48772384G>T	ENST00000376509.4	-	4	697	c.508C>A	c.(508-510)Ctg>Atg	p.L170M		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	170	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						AGGTCTATCAGGATGTTCTCA	0.517													T	48772384	G	T	48772384	3	4	364	1	0	0	0	0	1	0	0	0	12005	991	35	4	439	4	PIM2	23	48772384	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	108523	48772384	106498176	15150	38652											
OTUD5	55593	broad.mit.edu	37	chrX	48780953	48780953	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatgagggcccggcactcCaaagcagggtagagggacac	12	4	15	10	1	0	3	0	2	0	1	1	4	1	4	2	4	1	3	2	4	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48780953C>A	ENST00000156084.4	-	8	1611	c.1551G>T	c.(1549-1551)ttG>ttT	p.L517F	OTUD5_ENST00000428668.2_Missense_Mutation_p.L295F|OTUD5_ENST00000396743.3_Missense_Mutation_p.L512F|OTUD5_ENST00000376488.3_Missense_Mutation_p.L512F	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	517					negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						CCCGGCACTCCAAAGCAGGGT	0.602													A	48780953	C	A	48780953	3	1	364	1	0	0	0	0	1	0	0	0	11391	593	21	4	172	4	OTUD5	23	48780953	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8569	48780953	106489607	15151	38653											
KCND1	3750	broad.mit.edu	37	chrX	48819929	48819929	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgccggccctgccaccGccgccaggggaggaaggttg	5	5	17	14	3	0	0	0	0	0	0	0	2	0	2	6	5	3	2	6	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48819929G>A	ENST00000218176.3	-	6	3154	c.1857C>T	c.(1855-1857)ggC>ggT	p.G619G	KCND1_ENST00000376477.1_Silent_p.G242G	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	619						voltage-gated potassium channel complex	metal ion binding|voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24						CCCTGCCACCGCCGCCAGGGG	0.637													A	48819929	G	A	48819929	2	1	364	1	0	0	0	0	0	0	0	1	8076	1074	38	1		1	KCND1	23	48819929	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38976	48819929	106450631	15152	38654											
CCDC120	90060	broad.mit.edu	37	chrX	48921961	48921961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcagatcgcggcggccGcccgccgcctggccttggcc	5	4	14	18	6	0	1	0	0	0	1	1	1	0	1	6	4	2	1	6	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48921961G>A	ENST00000376396.3	+	6	604	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	CCDC120_ENST00000422185.2_Missense_Mutation_p.A129T|CCDC120_ENST00000597275.1_Missense_Mutation_p.A129T|CCDC120_ENST00000603986.1_Missense_Mutation_p.A164T|CCDC120_ENST00000496529.2_Missense_Mutation_p.A129T|CCDC120_ENST00000536628.2_Missense_Mutation_p.A117T	NM_001271835.1|NM_001271836.1|NM_033626.2	NP_001258764.1|NP_001258765.1|NP_296375.1	Q96HB5	CC120_HUMAN	coiled-coil domain containing 120	129							protein binding			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14						CGCGGCGGCCGCCCGCCGCCT	0.667													A	48921961	G	A	48921961	3	1	364	1	0	0	0	0	1	0	0	0	2782	1087	38	1	399	1	CCDC120	23	48921961	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	102032	48921961	106348599	15153	38655											
WDR45	11152	broad.mit.edu	37	chrX	48933405	48933405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgccaggctttgtgctcGccaggtcctggggtaggagg	5	9	18	9	1	0	0	0	0	0	0	2	1	1	1	3	7	2	3	3	7	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:48933405G>A	ENST00000356463.3	-	9	965	c.527C>T	c.(526-528)gCg>gTg	p.A176V	WDR45_ENST00000473974.1_Missense_Mutation_p.A175V|AF196779.12_ENST00000376358.3_Missense_Mutation_p.A73V|WDR45_ENST00000376368.2_Missense_Mutation_p.A176V|WDR45_ENST00000322995.8_Missense_Mutation_p.A186V|WDR45_ENST00000485908.1_Missense_Mutation_p.A140V|WDR45_ENST00000553851.1_Missense_Mutation_p.A73V|WDR45_ENST00000376372.3_Missense_Mutation_p.A175V|WDR45_ENST00000396681.4_Missense_Mutation_p.A175V	NM_007075.3	NP_009006.2	Q9Y484	WIPI4_HUMAN	WD repeat domain 45	175					autophagy|response to starvation	organelle membrane	phosphatidylinositol-3,5-bisphosphate binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	19						CTTTGTGCTCGCCAGGTCCTG	0.582													A	48933405	G	A	48933405	3	1	364	1	0	0	0	0	1	0	0	0	17399	1087	38	1	574	1	WDR45	23	48933405	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11444	48933405	106337155	15154	38656											
PLP2	5355	broad.mit.edu	37	chrX	49030697	49030697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggtactgggcctaatcGctacgtgcctctttggctat	6	12	10	13	2	1	0	0	0	1	0	2	0	1	0	3	3	3	3	3	3	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49030697G>A	ENST00000376327.5	+	4	436	c.361G>A	c.(361-363)Gct>Act	p.A121T		NM_002668.2	NP_002659.1	Q04941	PLP2_HUMAN	proteolipid protein 2 (colonic epithelium-enriched)	121	MARVEL.				chemotaxis|cytokine-mediated signaling pathway	endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	chemokine binding|ion transmembrane transporter activity			endometrium(3)|large_intestine(1)|lung(6)|urinary_tract(3)	13						GGGCCTAATCGCTACGTGCCT	0.527													A	49030697	G	A	49030697	3	1	364	1	0	0	0	0	1	0	0	0	12182	1087	38	1	375	1	PLP2	23	49030697	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	97292	49030697	106239863	15155	38657											
CACNA1F	778	broad.mit.edu	37	chrX	49062226	49062226	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcttccaccaacaacagCggggcatacaggagccgacc	11	4	9	17	2	1	0	0	0	1	0	2	2	2	1	5	3	5	1	5	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49062226C>T	ENST00000376265.2	-	47	5614	c.5553G>A	c.(5551-5553)ccG>ccA	p.P1851P	CACNA1F_ENST00000376251.1_Silent_p.P1786P|CACNA1F_ENST00000323022.5_Silent_p.P1840P	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1851					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	CCAACAACAGCGGGGCATACA	0.627													T	49062226	C	T	49062226	2	4	364	1	0	0	0	0	0	0	0	1	2569	755	27	1		1	CACNA1F	23	49062226	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31529	49062226	106208334	15156	38658											
CACNA1F	778	broad.mit.edu	37	chrX	49063466	49063466	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggcatggccagtgtacCgatcagggacttcctcatcc	8	10	11	12	1	2	0	2	0	0	0	4	2	4	1	4	3	1	2	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49063466C>T	ENST00000376265.2	-	44	5325	c.5264G>A	c.(5263-5265)cGg>cAg	p.R1755Q	CACNA1F_ENST00000376251.1_Splice_Site_p.R1690Q|CACNA1F_ENST00000323022.5_Splice_Site_p.R1744Q	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1755					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GCCAGTGTACCGATCAGGGAC	0.567													T	49063466	C	T	49063466	5	4	364	1	0	0	0	0	0	0	1	0	2569	666	23	1	689	1	CACNA1F	23	49063466	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1240	49063466	106207094	15157	38659											
PPP1R3F	89801	broad.mit.edu	37	chrX	49143182	49143182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaagcccagatagaggTcaccagtgagtgggcaggca	13	4	15	9	0	1	4	1	1	0	3	1	5	1	4	2	3	1	2	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143182T>C	ENST00000055335.6	+	4	2046	c.2030T>C	c.(2029-2031)gTc>gCc	p.V677A	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.V331A|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.V348A|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.V331A	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	677						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAGATAGAGGTCACCAGTGAG	0.592													C	49143182	T	C	49143182	3	2	364	1	0	0	0	0	1	0	0	0	12457	1667	58	3	2044	3	PPP1R3F	23	49143182	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	79716	49143182	106127378	15158	38660											
PPP1R3F	89801	broad.mit.edu	37	chrX	49143232	49143232	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatatctggcaaggagccaGcctctcccgtccttctgcag	7	9	9	16	1	3	0	0	0	3	0	5	1	4	1	5	2	3	2	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49143232G>T	ENST00000055335.6	+	4	2096	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	PPP1R3F_ENST00000495799.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.A348S|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.A365S|PPP1R3F_ENST00000466508.1_Missense_Mutation_p.A348S	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	694						integral to membrane		p.A694P(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					CAAGGAGCCAGCCTCTCCCGT	0.617													T	49143232	G	T	49143232	3	4	364	1	0	0	0	0	1	0	0	0	12457	971	34	4	2094	4	PPP1R3F	23	49143232	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50	49143232	106127328	15159	38661											
CLCN5	1184	broad.mit.edu	37	chrX	49846431	49846431	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggccctctagtgcacgTggcttgctgctgtgggaaca	7	9	15	10	1	1	1	0	0	1	1	1	2	1	2	1	3	4	4	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49846431T>G	ENST00000376088.3	+	9	1501	c.860T>G	c.(859-861)gTg>gGg	p.V287G	CLCN5_ENST00000376108.3_Missense_Mutation_p.V217G|CLCN5_ENST00000307367.2_Missense_Mutation_p.V217G|CLCN5_ENST00000376091.3_Missense_Mutation_p.V287G	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	217					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CTAGTGCACGTGGCTTGCTGC	0.507													G	49846431	T	G	49846431	3	3	364	1	0	0	0	0	1	0	0	0	3497	1696	59	5	886	5	CLCN5	23	49846431	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	703199	49846431	105424129	15160	38662											
CLCN5	1184	broad.mit.edu	37	chrX	49851517	49851517	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcattactatattcacctTtggcatgaaggtgaggaatt	11	15	9	6	0	2	2	2	2	0	0	2	3	2	3	1	3	1	1	1	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49851517T>A	ENST00000376088.3	+	11	2188	c.1547T>A	c.(1546-1548)tTt>tAt	p.F516Y	CLCN5_ENST00000376108.3_Missense_Mutation_p.F446Y|CLCN5_ENST00000307367.2_Missense_Mutation_p.F446Y|CLCN5_ENST00000376091.3_Missense_Mutation_p.F516Y	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	446			R -> W (in NPHL2; causes retention in the endoplasmic reticulum and alters protein stability; total loss of function).		excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					ATATTCACCTTTGGCATGAAG	0.493													A	49851517	T	A	49851517	3	1	364	1	0	0	0	0	1	0	0	0	3497	1841	64	5	1581	5	CLCN5	23	49851517	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5086	49851517	105419043	15161	38663											
CLCN5	1184	broad.mit.edu	37	chrX	49856787	49856787	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgtgtttgtcttttaggCgattgcttggaatcattacc	7	19	9	6	1	2	0	1	0	1	0	2	2	2	1	1	2	2	2	1	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49856787C>T	ENST00000376088.3	+	15	3003	c.2362C>T	c.(2362-2364)Cga>Tga	p.R788*	CLCN5_ENST00000376108.3_Splice_Site_p.R718*|CLCN5_ENST00000307367.2_Splice_Site_p.R718*|CLCN5_ENST00000376091.3_Splice_Site_p.R788*	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	718					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTCTTTTAGGCGATTGCTTGG	0.353													T	49856787	C	T	49856787	5	4	364	1	0	0	0	0	0	0	1	0	3497	782	27	1	2412	1	CLCN5	23	49856787	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5270	49856787	105413773	15162	38664											
AKAP4	8852	broad.mit.edu	37	chrX	49963374	49963374	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accttgcacacacccctgtgGctgcgtaaccagtcaatatc	10	9	7	15	1	1	0	1	0	0	0	2	0	1	0	4	1	3	3	4	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:49963374G>C	ENST00000376056.2	-	2	180	c.30C>G	c.(28-30)agC>agG	p.S10R	AKAP4_ENST00000376064.3_Missense_Mutation_p.S10R|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000358526.2_Missense_Mutation_p.S19R|AKAP4_ENST00000376058.2_Missense_Mutation_p.S10R			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	19					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CACCCCTGTGGCTGCGTAACC	0.433													C	49963374	G	C	49963374	3	2	364	1	0	0	0	0	1	0	0	0	453	1194	42	4	2527	4	AKAP4	23	49963374	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106587	49963374	105307186	15163	38665											
CCNB3	85417	broad.mit.edu	37	chrX	50031781	50031781	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttttacttttttagaCgggggagaattgccaaacga	11	13	9	8	2	1	2	0	0	1	2	1	4	1	2	2	2	3	0	2	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50031781C>T	ENST00000376042.1	+	4	396	c.98C>T	c.(97-99)aCg>aTg	p.T33M	CCNB3_ENST00000376038.1_Splice_Site_p.T33M|CCNB3_ENST00000276014.7_Splice_Site_p.T33M|CCNB3_ENST00000348603.2_Splice_Site_p.T33M			Q8WWL7	CCNB3_HUMAN	cyclin B3	33					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					CTTTTTTAGACGGGGGAGAAT	0.438													T	50031781	C	T	50031781	5	4	364	1	0	0	0	0	0	0	1	0	2944	550	19	1	104	1	CCNB3	23	50031781	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	68407	50031781	105238779	15164	38666											
CCNB3	85417	broad.mit.edu	37	chrX	50053092	50053092	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcccaggaaccatctgcAttgaaagagaagcataccac	14	7	7	13	0	2	2	0	1	2	1	3	4	2	3	3	1	4	2	3	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053092A>G	ENST00000376042.1	+	6	2221	c.1923A>G	c.(1921-1923)gcA>gcG	p.A641A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.A641A|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	641					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					AACCATCTGCATTGAAAGAGA	0.453													G	50053092	A	G	50053092	2	3	364	1	0	0	0	0	0	0	0	1	2944	204	8	3		3	CCNB3	23	50053092	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	21311	50053092	105217468	15165	38667											
CCNB3	85417	broad.mit.edu	37	chrX	50053116	50053116	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagagaagcataccaccttGcaggaagtgtccctctcaaa	15	7	8	11	0	1	1	1	0	1	1	3	3	2	2	3	1	3	2	3	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50053116G>A	ENST00000376042.1	+	6	2245	c.1947G>A	c.(1945-1947)ttG>ttA	p.L649L	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.L649L|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	649					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					ATACCACCTTGCAGGAAGTGT	0.428													A	50053116	G	A	50053116	2	1	364	1	0	0	0	0	0	0	0	1	2944	1310	46	2		2	CCNB3	23	50053116	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24	50053116	105217444	15166	38668											
CCNB3	85417	broad.mit.edu	37	chrX	50054133	50054133	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatccataaccagcaaGtccagcattgctaccatgac	13	8	6	14	0	0	2	0	2	0	0	2	2	2	2	5	0	5	3	5	0	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50054133G>A	ENST00000376042.1	+	6	3262	c.2964G>A	c.(2962-2964)aaG>aaA	p.K988K	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000276014.7_Silent_p.K988K|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	988					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TAACCAGCAAGTCCAGCATTG	0.478													A	50054133	G	A	50054133	2	1	364	1	0	0	0	0	0	0	0	1	2944	1020	36	2		2	CCNB3	23	50054133	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1017	50054133	105216427	15167	38669											
CCNB3	85417	broad.mit.edu	37	chrX	50085330	50085330	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctttatgattgcagcaAaatttgaggtgagtctgagt	10	14	11	6	0	1	4	0	4	1	0	1	4	1	4	1	1	3	2	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50085330A>C	ENST00000376042.1	+	9	3944	c.3646A>C	c.(3646-3648)Aaa>Caa	p.K1216Q	CCNB3_ENST00000376038.1_Missense_Mutation_p.K112Q|CCNB3_ENST00000348603.2_Missense_Mutation_p.K112Q|CCNB3_ENST00000276014.7_Missense_Mutation_p.K1216Q			Q8WWL7	CCNB3_HUMAN	cyclin B3	1216					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GATTGCAGCAAAATTTGAGGT	0.408													C	50085330	A	C	50085330	3	2	364	1	0	0	0	0	1	0	0	0	2944	15	1	5	3672	5	CCNB3	23	50085330	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	31197	50085330	105185230	15168	38670											
DGKK	139189	broad.mit.edu	37	chrX	50119030	50119030	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctttctacttacttcaatgGgaatacaggaagctgcaccc	11	11	7	12	0	2	0	1	0	1	0	2	2	2	2	2	2	5	2	2	2	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50119030G>T	ENST00000376025.2	-	0	3465							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TACTTCAATGGGAATACAGGA	0.463													T	50119030	G	T	50119030	1	4	364	0	1	0	0	0	0	0	0	0	4511	1232	43	4		4	DGKK	23	50119030	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33700	50119030	105151530	15169	38671											
DGKK	139189	broad.mit.edu	37	chrX	50125503	50125503	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttccttacttgtattgcCctgggtgttcatctcttctg	3	20	7	11	0	3	0	1	0	2	0	5	0	4	0	2	1	2	2	2	1	2	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50125503C>A	ENST00000376025.2	-	0	2707							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					CTTGTATTGCCCTGGGTGTTC	0.408													A	50125503	C	A	50125503	1	1	364	0	1	0	0	0	0	0	0	0	4511	623	22	4		4	DGKK	23	50125503	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6473	50125503	105145057	15170	38672											
DGKK	139189	broad.mit.edu	37	chrX	50144082	50144082	+	RNA	SNP	C	C	T																															tgggaggaatgactgatgagCgatggcttctgaagcaacat																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144082C>T	ENST00000376025.2	-	0	1423							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	p.R251H(1)		central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GACTGATGAGCGATGGCTTCT	0.488													T	50144082	C	T	50144082	1	4	364	0	1	0	0	0	0	0	0	0	4511	768	27	1		1	DGKK	23	50144082	RNA	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18579	50144082	105126478	15171	38673	120	2									
DGKK	139189	broad.mit.edu	37	chrX	50144083	50144083	+	RNA	SNP	G	G	A																															gggaggaatgactgatgagcGatggcttctgaagcaacatt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50144083G>A	ENST00000376025.2	-	0	1422							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ACTGATGAGCGATGGCTTCTG	0.483													A	50144083	G	A	50144083	1	1	364	0	1	0	0	0	0	0	0	0	4511	1058	37	1		1	DGKK	23	50144083	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1	50144083	105126477	15172	38674	120	2									
SHROOM4	57477	broad.mit.edu	37	chrX	50350483	50350483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagatcccaagtgacccCttattggaggcaagaaatca	13	9	10	9	0	1	3	1	2	0	2	2	5	2	4	3	2	0	2	3	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50350483C>A	ENST00000376020.2	-	6	3684	c.3659G>T	c.(3658-3660)aGg>aTg	p.R1220M	SHROOM4_ENST00000289292.7_Missense_Mutation_p.R1220M|SHROOM4_ENST00000460112.3_Missense_Mutation_p.R1104M	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1220	ASD2.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CAAGTGACCCCTTATTGGAGG	0.552													A	50350483	C	A	50350483	3	1	364	1	0	0	0	0	1	0	0	0	14390	681	24	4	838	4	SHROOM4	23	50350483	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	206400	50350483	104920077	15173	38675											
BMP15	9210	broad.mit.edu	37	chrX	50659372	50659372	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcattgctccccctttctAcaccccaaactactgtaaag	11	11	4	15	0	2	0	1	0	1	0	3	1	3	0	4	0	4	2	4	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:50659372A>G	ENST00000252677.3	+	2	944	c.944A>G	c.(943-945)tAc>tGc	p.Y315C		NM_005448.2	NP_005439.2	O95972	BMP15_HUMAN	bone morphogenetic protein 15	315					female gamete generation|granulosa cell development|ovarian follicle development	extracellular space	cytokine activity|growth factor activity			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(1)	26	Ovarian(276;0.236)					CCCCCTTTCTACACCCCAAAC	0.488													G	50659372	A	G	50659372	3	3	364	1	0	0	0	0	1	0	0	0	1464	391	14	3	950	3	BMP15	23	50659372	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	308889	50659372	104611188	15174	38676											
NUDT11	55190	broad.mit.edu	37	chrX	51239031	51239031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgtacgttctgtgcttgCgatcctggttctgttcgaag	6	14	11	10	4	2	0	0	0	2	0	4	2	3	0	1	1	3	5	1	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51239031C>T	ENST00000375992.3	-	1	417	c.266G>A	c.(265-267)cGc>cAc	p.R89H		NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11	89	Nudix hydrolase.|Substrate binding (By similarity).					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TCTGTGCTTGCGATCCTGGTT	0.582										HNSCC(48;0.14)			T	51239031	C	T	51239031	3	4	364	1	0	0	0	0	1	0	0	0	10803	768	27	1	236	1	NUDT11	23	51239031	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	579659	51239031	104031529	15175	38677											
GSPT2	23708	broad.mit.edu	37	chrX	51486831	51486831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggagtctcctctgcggtgGccgaggcccagcgcgagccc	5	6	15	15	4	2	0	0	0	2	0	3	3	2	1	4	4	3	0	4	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51486831G>A	ENST00000340438.4	+	1	351	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	37					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					CTCTGCGGTGGCCGAGGCCCA	0.687													A	51486831	G	A	51486831	3	1	364	1	0	0	0	0	1	0	0	0	6882	1203	42	2	111	2	GSPT2	23	51486831	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	247800	51486831	103783729	15176	38678											
GSPT2	23708	broad.mit.edu	37	chrX	51488437	51488437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggagaaaaaagtaagacacGaccccgcttcgtgaaacaag	18	4	10	9	3	0	3	0	1	0	2	1	5	0	3	2	1	1	2	2	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51488437G>A	ENST00000340438.4	+	1	1957	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	572					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					AGTAAGACACGACCCCGCTTC	0.428													A	51488437	G	A	51488437	3	1	364	1	0	0	0	0	1	0	0	0	6882	1058	37	1	1717	1	GSPT2	23	51488437	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1606	51488437	103782123	15177	38679											
MAGED1	9500	broad.mit.edu	37	chrX	51640312	51640312	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctcccaggcaaataaGttggtcaagtacttgatgct	10	13	8	10	0	1	1	1	1	0	0	3	1	3	1	2	2	2	4	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640312G>C	ENST00000375695.2	+	6	1752	c.1599G>C	c.(1597-1599)aaG>aaC	p.K533N	MAGED1_ENST00000375772.3_Missense_Mutation_p.K477N|MAGED1_ENST00000375722.1_Missense_Mutation_p.K477N|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.K477N	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	477	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					AGGCAAATAAGTTGGTCAAGT	0.418										Multiple Myeloma(10;0.10)			C	51640312	G	C	51640312	3	2	364	1	0	0	0	0	1	0	0	0	9258	1020	36	4	1617	4	MAGED1	23	51640312	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151875	51640312	103630248	15178	38680											
MAGED1	9500	broad.mit.edu	37	chrX	51640976	51640976	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccctggctggcatacTgggaacgtaagatgggaaag	11	7	15	8	2	0	1	0	0	0	1	1	4	1	3	1	4	2	3	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51640976T>C	ENST00000375695.2	+	8	1973	c.1820T>C	c.(1819-1821)cTg>cCg	p.L607P	MAGED1_ENST00000375772.3_Missense_Mutation_p.L551P|MAGED1_ENST00000375722.1_Missense_Mutation_p.L551P|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.L551P	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	551	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GCTGGCATACTGGGAACGTAA	0.463										Multiple Myeloma(10;0.10)			C	51640976	T	C	51640976	3	2	364	1	0	0	0	0	1	0	0	0	9258	1580	55	3	1846	3	MAGED1	23	51640976	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	664	51640976	103629584	15179	38681											
MAGED1	9500	broad.mit.edu	37	chrX	51641416	51641416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactacgcaagatgggactgCgtcctgggtatgattgggct	8	10	14	9	2	0	2	0	1	0	1	1	3	1	3	1	3	2	3	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:51641416C>T	ENST00000375695.2	+	10	2095	c.1942C>T	c.(1942-1944)Cgt>Tgt	p.R648C	MAGED1_ENST00000375772.3_Missense_Mutation_p.R592C|MAGED1_ENST00000375722.1_Missense_Mutation_p.R592C|MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000326587.7_Missense_Mutation_p.R592C	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	592	MAGE.				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					GATGGGACTGCGTCCTGGGTA	0.552										Multiple Myeloma(10;0.10)			T	51641416	C	T	51641416	3	4	364	1	0	0	0	0	1	0	0	0	9258	768	27	1	1976	1	MAGED1	23	51641416	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	440	51641416	103629144	15180	38682											
XAGE5	170627	broad.mit.edu	37	chrX	52844174	52844174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaagactggggatgaatgCggagatagtcctgatgtcca	12	9	13	7	1	1	4	1	2	0	2	3	6	3	5	2	3	1	0	2	3	3	1	rs146352090		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:52844174C>T	ENST00000351072.1	+	4	303	c.237C>T	c.(235-237)tgC>tgT	p.C79C	XAGE5_ENST00000425386.1_Silent_p.C79C|XAGE5_ENST00000445860.2_3'UTR|XAGE5_ENST00000375503.3_3'UTR|XAGE5_ENST00000375501.1_Silent_p.C79C			Q8WWM1	GAGD5_HUMAN	X antigen family, member 5	79										endometrium(1)|large_intestine(1)|lung(5)|ovary(1)	8						GGGATGAATGCGGAGATAGTC	0.438													T	52844174	C	T	52844174	2	4	364	1	0	0	0	0	0	0	0	1	17523	776	27	1		1	XAGE5	23	52844174	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1202758	52844174	102426386	15181	38683											
TSPYL2	64061	broad.mit.edu	37	chrX	53114479	53114479	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggctccaggataaagaGaaagaagcaagaaatgaaga	21	3	13	4	0	0	5	0	1	0	4	1	7	1	6	1	3	1	2	1	3	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53114479G>T	ENST00000375442.4	+	5	1346	c.1214G>T	c.(1213-1215)aGa>aTa	p.R405I		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	405					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGATAAAGAGAAAGAAGCAA	0.438													T	53114479	G	T	53114479	3	4	364	1	0	0	0	0	1	0	0	0	16761	942	33	4	1232	4	TSPYL2	23	53114479	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	270305	53114479	102156081	15182	38684											
TSPYL2	64061	broad.mit.edu	37	chrX	53117082	53117082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgtgcttcaggtcccaaaCggttgggccaatccggggaa	9	8	14	10	2	1	0	1	0	0	0	3	2	3	1	3	5	2	2	3	5	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53117082C>T	ENST00000375442.4	+	7	2175	c.2043C>T	c.(2041-2043)aaC>aaT	p.N681N		NM_022117.3	NP_071400.1	Q9H2G4	TSYL2_HUMAN	TSPY-like 2	681					cell cycle|chromatin modification|negative regulation of cell cycle|negative regulation of cell growth|negative regulation of DNA replication|nucleosome assembly|regulation of protein kinase activity|regulation of signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|rDNA binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	19						AGGTCCCAAACGGTTGGGCCA	0.532											OREG0019795	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	53117082	C	T	53117082	2	4	364	1	0	0	0	0	0	0	0	1	16761	535	19	1		1	TSPYL2	23	53117082	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2603	53117082	102153478	15183	38685											
KDM5C	8242	broad.mit.edu	37	chrX	53222210	53222210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagccggggagtcagagtgGagaaaggggccgaggggcct	9	3	21	8	2	1	2	1	0	0	2	1	5	1	3	3	7	1	1	3	7	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53222210G>A	ENST00000375401.3	-	26	5154	c.4622C>T	c.(4621-4623)tCc>tTc	p.S1541F	KDM5C_ENST00000375379.3_Missense_Mutation_p.S1538F|KDM5C_ENST00000452825.3_Intron|KDM5C_ENST00000375383.3_Missense_Mutation_p.S1497F|KDM5C_ENST00000404049.3_Missense_Mutation_p.S1540F	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1541					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						AGTCAGAGTGGAGAAAGGGGC	0.652			"N, F, S"		clear cell renal carcinoma								A	53222210	G	A	53222210	3	1	364	1	0	0	0	0	1	0	0	0	8193	1174	41	2	162	2	KDM5C	23	53222210	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105128	53222210	102048350	15184	38686											
KDM5C	8242	broad.mit.edu	37	chrX	53230839	53230839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagcttctctgggcaggcagCcatcttgcagataagctcct	8	11	10	12	0	2	1	0	0	2	1	4	1	3	1	2	2	4	5	2	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53230839C>T	ENST00000452825.3	-	12	2285	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	KDM5C_ENST00000375401.3_Missense_Mutation_p.A652T|KDM5C_ENST00000465402.1_5'UTR|KDM5C_ENST00000375379.3_Missense_Mutation_p.A652T|KDM5C_ENST00000375383.3_Missense_Mutation_p.A611T|KDM5C_ENST00000404049.3_Missense_Mutation_p.A651T	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	652	JmjC.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GGGCAGGCAGCCATCTTGCAG	0.582			"N, F, S"		clear cell renal carcinoma								T	53230839	C	T	53230839	3	4	364	1	0	0	0	0	1	0	0	0	8193	739	26	2	2878	2	KDM5C	23	53230839	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8629	53230839	102039721	15185	38687											
KDM5C	8242	broad.mit.edu	37	chrX	53239948	53239948	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacgtagagccagggcaccTtcatgccagagatatctgca	11	7	10	13	1	2	2	1	0	1	2	2	3	2	2	4	1	3	3	4	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53239948T>A	ENST00000452825.3	-	9	1824	c.1292A>T	c.(1291-1293)aAg>aTg	p.K431M	KDM5C_ENST00000375401.3_Missense_Mutation_p.K498M|KDM5C_ENST00000375379.3_Missense_Mutation_p.K498M|KDM5C_ENST00000375383.3_Missense_Mutation_p.K457M|KDM5C_ENST00000404049.3_Missense_Mutation_p.K497M	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	498					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	p.K498R(2)|p.K431R(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CCAGGGCACCTTCATGCCAGA	0.507			"N, F, S"		clear cell renal carcinoma								A	53239948	T	A	53239948	3	1	364	1	0	0	0	0	1	0	0	0	8193	1609	56	5	3351	5	KDM5C	23	53239948	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	9109	53239948	102030612	15186	38688											
KDM5C	8242	broad.mit.edu	37	chrX	53240002	53240002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacagactgttccaacaccGgcatcacatttaggttccaa	12	10	7	12	1	1	1	1	0	0	1	3	1	3	1	3	2	2	4	3	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53240002G>A	ENST00000452825.3	-	9	1770	c.1238C>T	c.(1237-1239)cCg>cTg	p.P413L	KDM5C_ENST00000375401.3_Missense_Mutation_p.P480L|KDM5C_ENST00000375379.3_Missense_Mutation_p.P480L|KDM5C_ENST00000375383.3_Missense_Mutation_p.P439L|KDM5C_ENST00000404049.3_Missense_Mutation_p.P479L	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	480					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TTCCAACACCGGCATCACATT	0.488			"N, F, S"		clear cell renal carcinoma								A	53240002	G	A	53240002	3	1	364	1	0	0	0	0	1	0	0	0	8193	1116	39	1	3405	1	KDM5C	23	53240002	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	54	53240002	102030558	15187	38689											
KDM5C	8242	broad.mit.edu	37	chrX	53241017	53241017	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaggagtcggccatctcGccaaagctctgcagagtgta	11	9	11	10	2	2	1	0	0	2	1	4	2	2	2	2	2	2	3	2	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53241017G>A	ENST00000452825.3	-	7	1525	c.993C>T	c.(991-993)ggC>ggT	p.G331G	KDM5C_ENST00000375401.3_Silent_p.G398G|KDM5C_ENST00000375379.3_Silent_p.G398G|KDM5C_ENST00000375383.3_Silent_p.G357G|KDM5C_ENST00000404049.3_Silent_p.G397G	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	398					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						CGGCCATCTCGCCAAAGCTCT	0.522			"N, F, S"		clear cell renal carcinoma								A	53241017	G	A	53241017	2	1	364	1	0	0	0	0	0	0	0	1	8193	1074	38	1		1	KDM5C	23	53241017	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1015	53241017	102029543	15188	38690											
IQSEC2	23096	broad.mit.edu	37	chrX	53277913	53277913	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctcactccaacacgtCtctgttgaactgcttctgcc	6	12	8	15	1	3	1	1	1	2	0	6	1	5	1	3	1	4	2	3	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53277913C>A	ENST00000396435.3	-	6	2649	c.2449G>T	c.(2449-2451)Gac>Tac	p.D817Y	IQSEC2_ENST00000375365.2_Missense_Mutation_p.D612Y|IQSEC2_ENST00000375368.5_Missense_Mutation_p.D807Y	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	807	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						TCCAACACGTCTCTGTTGAAC	0.602													A	53277913	C	A	53277913	3	1	364	1	0	0	0	0	1	0	0	0	7876	913	32	4	2057	4	IQSEC2	23	53277913	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	36896	53277913	101992647	15189	38691											
IQSEC2	23096	broad.mit.edu	37	chrX	53285038	53285038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccgatagggccttggagcGctttatctcctcctcctcct	4	13	9	15	2	1	0	0	0	1	0	6	2	5	1	6	2	1	1	6	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53285038G>A	ENST00000396435.3	-	3	1143	c.943C>T	c.(943-945)Cgc>Tgc	p.R315C	IQSEC2_ENST00000375365.2_Missense_Mutation_p.R110C|IQSEC2_ENST00000375368.5_Missense_Mutation_p.R305C	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	305					regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						GCCTTGGAGCGCTTTATCTCC	0.632													A	53285038	G	A	53285038	3	1	364	1	0	0	0	0	1	0	0	0	7876	1087	38	1	3575	1	IQSEC2	23	53285038	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	7125	53285038	101985522	15190	38692											
SMC1A	8243	broad.mit.edu	37	chrX	53423221	53423221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcatcttacaggcctgtaGcaagttgtgacggtcactgc	8	11	11	11	1	2	1	1	1	1	0	2	1	2	1	1	2	4	4	1	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53423221G>A	ENST00000322213.4	-	18	2915	c.2788C>T	c.(2788-2790)Cta>Tta	p.L930L		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	930					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CAGGCCTGTAGCAAGTTGTGA	0.488													A	53423221	G	A	53423221	2	1	364	1	0	0	0	0	0	0	0	1	14875	962	34	2		2	SMC1A	23	53423221	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	138183	53423221	101847339	15191	38693											
SMC1A	8243	broad.mit.edu	37	chrX	53426541	53426541	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttctatctcattttcatcTtttttcactgtctgctccca	5	22	2	12	0	6	0	3	0	4	0	8	0	7	0	1	0	1	1	1	0	1	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53426541T>C	ENST00000322213.4	-	16	2659	c.2532A>G	c.(2530-2532)aaA>aaG	p.K844K		NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	844					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CATTTTCATCTTTTTTCACTG	0.383													C	53426541	T	C	53426541	2	2	364	1	0	0	0	0	0	0	0	1	14875	1606	56	3		3	SMC1A	23	53426541	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	3320	53426541	101844019	15192	38694											
SMC1A	8243	broad.mit.edu	37	chrX	53440256	53440256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atggtaattaaactgtgtgtCctcttcagccttcaccattt	9	16	6	10	0	3	0	2	0	1	0	4	0	4	0	3	1	2	1	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53440256C>T	ENST00000322213.4	-	4	668	c.541G>A	c.(541-543)Gac>Aac	p.D181N	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	181					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						AACTGTGTGTCCTCTTCAGCC	0.483													T	53440256	C	T	53440256	3	4	364	1	0	0	0	0	1	0	0	0	14875	855	30	2	3248	2	SMC1A	23	53440256	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	13715	53440256	101830304	15193	38695											
HUWE1	10075	broad.mit.edu	37	chrX	53561480	53561480	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagcagcagctcacctgAatagagttggactggtactt	10	10	11	10	0	1	2	1	1	0	1	1	3	1	3	2	2	5	5	2	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53561480A>C	ENST00000342160.3	-	81	13285	c.12828T>G	c.(12826-12828)atT>atG	p.I4276M	HUWE1_ENST00000262854.6_Missense_Mutation_p.I4276M			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	4276	HECT.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AGCTCACCTGAATAGAGTTGG	0.463													C	53561480	A	C	53561480	3	2	364	1	0	0	0	0	1	0	0	0	7519	242	9	5	308	5	HUWE1	23	53561480	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121224	53561480	101709080	15194	38696											
HUWE1	10075	broad.mit.edu	37	chrX	53612074	53612074	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaatcaatagtgctattgttGcttgcactgtaactacacca	12	13	7	9	0	1	0	1	0	0	0	1	1	1	0	1	0	5	5	1	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53612074G>A	ENST00000342160.3	-	39	5356	c.4899C>T	c.(4897-4899)agC>agT	p.S1633S	HUWE1_ENST00000218328.8_Silent_p.S1633S|HUWE1_ENST00000262854.6_Silent_p.S1633S			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1633	WWE.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGCTATTGTTGCTTGCACTGT	0.458													A	53612074	G	A	53612074	2	1	364	1	0	0	0	0	0	0	0	1	7519	1310	46	2		2	HUWE1	23	53612074	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	50594	53612074	101658486	15195	38697											
HUWE1	10075	broad.mit.edu	37	chrX	53641542	53641542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtagaattaaagctctgCatggcctgtacttcctcttc	8	14	9	10	0	2	1	0	0	2	1	4	1	3	1	2	2	3	4	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53641542C>T	ENST00000342160.3	-	22	2671	c.2214G>A	c.(2212-2214)atG>atA	p.M738I	HUWE1_ENST00000218328.8_Missense_Mutation_p.M738I|HUWE1_ENST00000262854.6_Missense_Mutation_p.M738I			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	738					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TAAAGCTCTGCATGGCCTGTA	0.473													T	53641542	C	T	53641542	3	4	364	1	0	0	0	0	1	0	0	0	7519	710	25	2	11158	2	HUWE1	23	53641542	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29468	53641542	101629018	15196	38698											
HUWE1	10075	broad.mit.edu	37	chrX	53654813	53654813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatctggtcctgttcatcGccaagaaactttatgaccta	10	14	7	10	1	2	2	1	1	1	1	4	2	3	2	3	1	1	2	3	1	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53654813G>A	ENST00000342160.3	-	15	1717	c.1260C>T	c.(1258-1260)ggC>ggT	p.G420G	HUWE1_ENST00000218328.8_Silent_p.G420G|HUWE1_ENST00000262854.6_Silent_p.G420G			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	420					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CCTGTTCATCGCCAAGAAACT	0.393													A	53654813	G	A	53654813	2	1	364	1	0	0	0	0	0	0	0	1	7519	1074	38	1		1	HUWE1	23	53654813	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13271	53654813	101615747	15197	38699											
PHF8	23133	broad.mit.edu	37	chrX	53965633	53965633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtggattttcaggatacgGccgagtctctgctttgctgt	5	15	12	9	2	2	0	1	0	1	0	3	3	2	2	1	3	3	2	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:53965633G>A	ENST00000338154.6	-	22	3537	c.3033C>T	c.(3031-3033)ggC>ggT	p.G1011G	PHF8_ENST00000338946.6_Silent_p.G910G|PHF8_ENST00000357988.5_Silent_p.G1047G	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1047					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TCAGGATACGGCCGAGTCTCT	0.527													A	53965633	G	A	53965633	2	1	364	1	0	0	0	0	0	0	0	1	11917	1190	42	2		2	PHF8	23	53965633	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	310820	53965633	101304927	15198	38700											
PHF8	23133	broad.mit.edu	37	chrX	54011402	54011402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgttcatccagactggcGttctcctcctcctcctcgct	3	14	6	18	2	2	1	1	0	1	1	9	1	7	1	6	1	0	3	6	1	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54011402G>A	ENST00000338154.6	-	18	2892	c.2388C>T	c.(2386-2388)aaC>aaT	p.N796N	PHF8_ENST00000338946.6_Silent_p.N695N|PHF8_ENST00000357988.5_Silent_p.N832N|PHF8_ENST00000322659.8_Silent_p.N779N	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	832	Ser-rich.				brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						CCAGACTGGCGTTCTCCTCCT	0.587													A	54011402	G	A	54011402	2	1	364	1	0	0	0	0	0	0	0	1	11917	1136	40	1		1	PHF8	23	54011402	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45769	54011402	101259158	15199	38701											
PHF8	23133	broad.mit.edu	37	chrX	54012203	54012203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttgggcgggagcgggggTtgctgtctgatagcctggaa	6	9	18	8	2	1	1	0	1	1	0	1	3	1	3	2	5	3	2	2	5	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54012203T>C	ENST00000322659.8	-	18	2228	c.2053A>G	c.(2053-2055)Acc>Gcc	p.T685A	PHF8_ENST00000338946.6_Intron|PHF8_ENST00000357988.5_Intron|PHF8_ENST00000338154.6_Intron	NM_001184898.1	NP_001171827.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	739					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGAGCGGGGGTTGCTGTCTGA	0.512													C	54012203	T	C	54012203	3	2	364	1	0	0	0	0	1	0	0	0	11917	1725	60	3	1120	3	PHF8	23	54012203	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	801	54012203	101258357	15200	38702											
WNK3	65267	broad.mit.edu	37	chrX	54224904	54224904	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaaattcctacccactgTactggataccccgcccccgc	8	8	6	19	2	0	1	0	1	0	0	1	2	1	2	7	1	3	1	7	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54224904T>C	ENST00000354646.2	-	24	5694	c.5256A>G	c.(5254-5256)gtA>gtG	p.V1752V	WNK3_ENST00000375159.2_Silent_p.V1752V|WNK3_ENST00000375169.3_Silent_p.V1695V	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1695					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						CTACCCACTGTACTGGATACC	0.493													C	54224904	T	C	54224904	2	2	364	1	0	0	0	0	0	0	0	1	17481	1625	57	3		3	WNK3	23	54224904	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	212701	54224904	101045656	15201	38703											
WNK3	65267	broad.mit.edu	37	chrX	54319604	54319604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatgtcctactagttgctgaGatgaataaatttgccctgga	12	13	9	7	0	0	2	0	2	0	1	1	4	1	3	2	1	3	2	2	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54319604G>A	ENST00000354646.2	-	9	2288	c.1850C>T	c.(1849-1851)tCt>tTt	p.S617F	WNK3_ENST00000375159.2_Missense_Mutation_p.S617F|WNK3_ENST00000375169.3_Missense_Mutation_p.S617F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	617					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TAGTTGCTGAGATGAATAAAT	0.383													A	54319604	G	A	54319604	3	1	364	1	0	0	0	0	1	0	0	0	17481	942	33	2	3616	2	WNK3	23	54319604	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	94700	54319604	100950956	15202	38704											
WNK3	65267	broad.mit.edu	37	chrX	54321078	54321078	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcttcacattcagccccaGtttgctgagcgggagcaagg	8	11	11	11	1	3	1	2	1	1	0	3	2	3	2	2	2	4	3	2	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54321078G>A	ENST00000354646.2	-	8	2039	c.1601C>T	c.(1600-1602)aCt>aTt	p.T534I	WNK3_ENST00000375159.2_Missense_Mutation_p.T534I|WNK3_ENST00000375169.3_Missense_Mutation_p.T534I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	534					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTCAGCCCCAGTTTGCTGAGC	0.473													A	54321078	G	A	54321078	3	1	364	1	0	0	0	0	1	0	0	0	17481	1029	36	2	3869	2	WNK3	23	54321078	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1474	54321078	100949482	15203	38705											
WNK3	65267	broad.mit.edu	37	chrX	54359998	54359998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttttctcctttagtctagCttctactgtcaaagttgcag	7	18	7	9	0	4	0	1	0	3	0	5	0	4	0	1	0	3	4	1	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54359998C>T	ENST00000354646.2	-	2	547	c.109G>A	c.(109-111)Gct>Act	p.A37T	WNK3_ENST00000375159.2_Missense_Mutation_p.A37T|WNK3_ENST00000375169.3_Missense_Mutation_p.A37T	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	37					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TTTAGTCTAGCTTCTACTGTC	0.428													T	54359998	C	T	54359998	3	4	364	1	0	0	0	0	1	0	0	0	17481	797	28	2	5385	2	WNK3	23	54359998	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38920	54359998	100910562	15204	38706											
FGD1	2245	broad.mit.edu	37	chrX	54472773	54472773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttgaagacatgccttctGtcaggccgctcccctgcctc	6	11	8	16	1	3	2	1	1	2	1	5	2	4	2	5	1	2	1	5	1	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54472773G>A	ENST00000375135.3	-	18	3388	c.2655C>T	c.(2653-2655)gaC>gaT	p.D885D		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	885	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CATGCCTTCTGTCAGGCCGCT	0.642													A	54472773	G	A	54472773	2	1	364	1	0	0	0	0	0	0	0	1	5881	1368	48	2		2	FGD1	23	54472773	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	112775	54472773	100797787	15205	38707											
TRO	7216	broad.mit.edu	37	chrX	54955239	54955239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacaagggaagagttaggCgatgatgctcaggcctggag	12	7	15	7	1	1	2	1	1	0	1	1	5	1	4	1	4	2	2	1	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54955239C>T	ENST00000173898.7	+	12	2194	c.2082C>T	c.(2080-2082)ggC>ggT	p.G694G	TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000420798.2_Silent_p.G225G|TRO_ENST00000375041.2_Silent_p.G297G|TRO_ENST00000399736.1_Intron	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	694					embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AAGAGTTAGGCGATGATGCTC	0.517													T	54955239	C	T	54955239	2	4	364	1	0	0	0	0	0	0	0	1	16675	755	27	1		1	TRO	23	54955239	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	482466	54955239	100315321	15206	38708											
PFKFB1	5207	broad.mit.edu	37	chrX	54960307	54960307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacattcaggtagatggattCcactttgcagccttagaaaa	13	11	8	9	0	1	2	1	0	0	2	2	3	2	3	2	2	2	2	2	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54960307C>T	ENST00000375006.3	-	13	1373	c.1303G>A	c.(1303-1305)Gaa>Aaa	p.E435K	PFKFB1_ENST00000545676.1_Missense_Mutation_p.E370K|PFKFB1_ENST00000374992.2_Missense_Mutation_p.E235K	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	435	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TAGATGGATTCCACTTTGCAG	0.567													T	54960307	C	T	54960307	3	4	364	1	0	0	0	0	1	0	0	0	11837	864	30	2	120	2	PFKFB1	23	54960307	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5068	54960307	100310253	15207	38709											
PFKFB1	5207	broad.mit.edu	37	chrX	54975618	54975618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccttcagggagctgatgcCctgggactgaatgaagttgg	9	9	14	9	0	1	3	1	3	0	0	1	5	1	5	2	3	2	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54975618C>T	ENST00000375006.3	-	9	953	c.883G>A	c.(883-885)Ggc>Agc	p.G295S	PFKFB1_ENST00000545676.1_Missense_Mutation_p.G230S|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	295	Fructose-2,6-bisphosphatase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						GAGCTGATGCCCTGGGACTGA	0.572													T	54975618	C	T	54975618	3	4	364	1	0	0	0	0	1	0	0	0	11837	623	22	2	556	2	PFKFB1	23	54975618	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15311	54975618	100294942	15208	38710											
PFKFB1	5207	broad.mit.edu	37	chrX	54984796	54984796	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactcaatgaaaaacacCtataaaagaaacagaaaaga	24	5	6	6	0	1	4	1	1	0	3	1	5	1	5	1	1	2	0	1	1	9	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54984796C>A	ENST00000375006.3	-	6	530		c.e6-1		PFKFB1_ENST00000545676.1_Splice_Site|PFKFB1_ENST00000374992.2_Intron	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1						energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TGAAAAACACCTATAAAAGAA	0.408													A	54984796	C	A	54984796	5	1	364	1	0	0	0	0	0	0	1	0	11837	695	24	4	992	4	PFKFB1	23	54984796	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9178	54984796	100285764	15209	38711											
PFKFB1	5207	broad.mit.edu	37	chrX	54985339	54985339	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaccgtcgttctctggtaGtgttggtggcatcaaaaacc	8	12	12	9	2	2	1	1	1	1	0	4	1	2	1	2	3	1	4	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:54985339G>T	ENST00000375006.3	-	5	474	c.404C>A	c.(403-405)aCt>aAt	p.T135N	PFKFB1_ENST00000545676.1_Missense_Mutation_p.T70N|PFKFB1_ENST00000374992.2_Missense_Mutation_p.T113N	NM_002625.2	NP_002616.2	P16118	F261_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1	135	6-phosphofructo-2-kinase.				energy reserve metabolic process|fructose 2,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|intracellular protein kinase cascade	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 1 complex	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(11)|ovary(1)	24						TTCTCTGGTAGTGTTGGTGGC	0.453													T	54985339	G	T	54985339	3	4	364	1	0	0	0	0	1	0	0	0	11837	1029	36	4	1051	4	PFKFB1	23	54985339	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	543	54985339	100285221	15210	38712											
APEX2	27301	broad.mit.edu	37	chrX	55026892	55026892	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaacatcaatgggattCggagacccctgcaaggggtg	10	7	15	9	1	1	1	1	0	0	1	2	4	1	3	2	5	2	2	2	5	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55026892C>T	ENST00000374987.3	+	1	103	c.37C>T	c.(37-39)Cgg>Tgg	p.R13W	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	13					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						CAATGGGATTCGGAGACCCCT	0.602								Other BER factors					T	55026892	C	T	55026892	3	4	364	1	0	0	0	0	1	0	0	0	772	875	31	1	39	1	APEX2	23	55026892	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41553	55026892	100243668	15211	38713											
MAGEH1	28986	broad.mit.edu	37	chrX	55478845	55478845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcggcgccgccgtaatgCgagagccgcagaagagaacc	11	3	15	12	6	0	3	0	0	0	3	1	6	0	3	4	1	3	2	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55478845C>T	ENST00000342972.1	+	1	308	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_014061.3	NP_054780.2	Q9H213	MAGH1_HUMAN	melanoma antigen family H, 1	13	MAGE.				apoptosis					central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|skin(2)	15						CGCCGTAATGCGAGAGCCGCA	0.597													T	55478845	C	T	55478845	3	4	364	1	0	0	0	0	1	0	0	0	9263	768	27	1	40	1	MAGEH1	23	55478845	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	451953	55478845	99791715	15212	38714											
USP51	158880	broad.mit.edu	37	chrX	55514742	55514742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctggtagatcaacctcaGgttcttctgccagttcttac	8	13	8	12	1	5	1	2	0	3	1	5	1	5	1	2	2	3	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55514742G>T	ENST00000500968.3	-	2	713	c.631C>A	c.(631-633)Ctg>Atg	p.L211M	USP51_ENST00000586165.1_Intron	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	211					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						ATCAACCTCAGGTTCTTCTGC	0.502													T	55514742	G	T	55514742	3	4	364	1	0	0	0	0	1	0	0	0	17185	991	35	4	1508	4	USP51	23	55514742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	35897	55514742	99755818	15213	38715											
USP51	158880	broad.mit.edu	37	chrX	55515233	55515233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcttcacgtctcgaagacGccttcgtagcccccgccgcc	5	7	10	19	7	2	1	1	0	1	1	4	2	2	1	5	1	1	2	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55515233G>A	ENST00000500968.3	-	2	222	c.140C>T	c.(139-141)gCg>gTg	p.A47V	USP51_ENST00000586165.1_5'UTR	NM_201286.3	NP_958443.1	Q70EK9	UBP51_HUMAN	ubiquitin specific peptidase 51	47					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30						TCTCGAAGACGCCTTCGTAGC	0.667													A	55515233	G	A	55515233	3	1	364	1	0	0	0	0	1	0	0	0	17185	1087	38	1	1999	1	USP51	23	55515233	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	491	55515233	99755327	15214	38716											
FOXR2	139628	broad.mit.edu	37	chrX	55650155	55650155	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagtaaagatggacttaaAactaaaagactgtgaatttt	17	12	7	5	0	0	3	0	1	0	2	1	4	1	4	1	1	1	1	1	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650155A>C	ENST00000339140.3	+	1	323	c.11A>C	c.(10-12)aAa>aCa	p.K4T		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	4					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						ATGGACTTAAAACTAAAAGAC	0.433													C	55650155	A	C	55650155	3	2	364	1	0	0	0	0	1	0	0	0	6083	14	1	5	13	5	FOXR2	23	55650155	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	134922	55650155	99620405	15215	38717											
FOXR2	139628	broad.mit.edu	37	chrX	55650714	55650714	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaaccaagagaagtcctgGcaaaggccccctctcaattg	14	6	8	13	0	1	1	1	0	1	1	3	2	2	1	4	2	2	1	4	2	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55650714G>A	ENST00000339140.3	+	1	882	c.570G>A	c.(568-570)tgG>tgA	p.W190*		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	190					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						AGAAGTCCTGGCAAAGGCCCC	0.502													A	55650714	G	A	55650714	4	1	364	1	0	0	0	0	0	1	0	0	6083	1212	42	2	572	2	FOXR2	23	55650714	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	559	55650714	99619846	15216	38718											
RRAGB	10325	broad.mit.edu	37	chrX	55757807	55757807	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctatcaggcaagacaccTtcatggaaaattatttcact	13	14	5	9	0	4	1	3	0	1	1	4	2	4	2	1	2	0	1	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:55757807T>G	ENST00000374941.4	+	5	893	c.304T>G	c.(304-306)Ttc>Gtc	p.F102V	RRAGB_ENST00000262850.7_Missense_Mutation_p.F130V	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	130					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GCAAGACACCTTCATGGAAAA	0.373													G	55757807	T	G	55757807	3	3	364	1	0	0	0	0	1	0	0	0	13764	1609	56	5	410	5	RRAGB	23	55757807	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	107093	55757807	99512753	15217	38719											
KLF8	11279	broad.mit.edu	37	chrX	56291821	56291821	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcacaagcccaaggctcCtctccagcctgctagcatgc	8	9	7	17	0	2	0	1	0	1	0	4	0	3	0	4	1	5	3	4	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56291821C>A	ENST00000374928.3	+	4	776	c.290C>A	c.(289-291)cCt>cAt	p.P97H	KLF8_ENST00000468660.1_Missense_Mutation_p.P97H	NM_001159296.1	NP_001152768.1	O95600	KLF8_HUMAN	Kruppel-like factor 8	97					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(4)|large_intestine(6)|lung(5)|ovary(1)	16						CCCAAGGCTCCTCTCCAGCCT	0.532													A	56291821	C	A	56291821	3	1	364	1	0	0	0	0	1	0	0	0	8410	681	24	4	300	4	KLF8	23	56291821	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	534014	56291821	98978739	15218	38720											
UBQLN2	29978	broad.mit.edu	37	chrX	56590893	56590893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttgttcagagcatgctttCgaatcccgatctgatgaggc	8	13	10	10	2	2	3	1	2	1	1	4	5	3	3	1	1	2	3	1	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:56590893C>T	ENST00000338222.5	+	1	868	c.587C>T	c.(586-588)tCg>tTg	p.S196L		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	196						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						AGCATGCTTTCGAATCCCGAT	0.473													T	56590893	C	T	56590893	3	4	364	1	0	0	0	0	1	0	0	0	16999	893	31	1	589	1	UBQLN2	23	56590893	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299072	56590893	98679667	15219	38721											
FAAH2	158584	broad.mit.edu	37	chrX	57337037	57337037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcttaggtttgaggaagCgatgaaggaggctcatgctg	9	12	14	6	1	3	2	1	2	2	0	3	5	3	4	0	4	2	3	0	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57337037C>T	ENST00000374900.4	+	3	407	c.287C>T	c.(286-288)gCg>gTg	p.A96V		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	96						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						TTTGAGGAAGCGATGAAGGAG	0.383										HNSCC(52;0.14)			T	57337037	C	T	57337037	3	4	364	1	0	0	0	0	1	0	0	0	5399	768	27	1	297	1	FAAH2	23	57337037	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	746144	57337037	97933523	15220	38722											
ZXDA	7789	broad.mit.edu	37	chrX	57936083	57936083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcctggaccagagcccaGcagtccgcgggggcccaggg	7	2	16	16	3	0	1	0	0	0	1	1	2	1	2	5	4	2	1	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:57936083G>A	ENST00000358697.4	-	1	984	c.772C>T	c.(772-774)Ctg>Ttg	p.L258L		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	258					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						CCAGAGCCCAGCAGTCCGCGG	0.721													A	57936083	G	A	57936083	2	1	364	1	0	0	0	0	0	0	0	1	18347	962	34	2		2	ZXDA	23	57936083	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	599046	57936083	97334477	15221	38723											
ARHGEF9	23229	broad.mit.edu	37	chrX	62875507	62875507	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaagcttaaaggcattCttcatgctgacattgaagtc	11	14	9	7	0	2	3	1	3	1	0	3	3	2	3	0	1	2	3	0	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:62875507C>A	ENST00000253401.6	-	8	1967	c.1167G>T	c.(1165-1167)aaG>aaT	p.K389N	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K336N|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.K116N|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K387N|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K287N|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K368N	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	389	PH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TAAAGGCATTCTTCATGCTGA	0.443													A	62875507	C	A	62875507	3	1	364	1	0	0	0	0	1	0	0	0	915	912	32	4	395	4	ARHGEF9	23	62875507	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4939424	62875507	92395053	15222	38724											
MTMR8	55613	broad.mit.edu	37	chrX	63444766	63444766	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgaggtcaggtcaagggaGagagatggaaggtagatatt	13	9	17	2	0	2	4	2	1	0	3	2	7	2	5	0	5	0	1	0	5	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63444766G>A	ENST00000453546.1	-	10	1979	c.1890C>T	c.(1888-1890)ctC>ctT	p.L630L	ASB12_ENST00000396130.2_Silent_p.L246L|ASB12_ENST00000362002.2_Silent_p.L255L			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GGTCAAGGGAGAGAGATGGAA	0.507													A	63444766	G	A	63444766	2	1	364	1	0	0	0	0	0	0	0	1	10025	929	33	2		2	MTMR8	23	63444766	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	569259	63444766	91825794	15223	38725											
MTMR8	55613	broad.mit.edu	37	chrX	63445176	63445176	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcacacgtacacagtccaGatggccatgactgacagcag	14	5	10	12	1	0	3	0	2	0	1	1	3	1	3	2	1	3	3	2	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63445176G>T	ENST00000453546.1	-	10	1569	c.1480C>A	c.(1480-1482)Ctg>Atg	p.L494M	ASB12_ENST00000396130.2_Missense_Mutation_p.L110M|ASB12_ENST00000362002.2_Missense_Mutation_p.L119M			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	310	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)|p.L119M(1)|p.L110M(1)|p.L494M(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						ACACAGTCCAGATGGCCATGA	0.532													T	63445176	G	T	63445176	3	4	364	1	0	0	0	0	1	0	0	0	10025	933	33	4		4	MTMR8	23	63445176	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	410	63445176	91825384	15224	38726											
MTMR8	55613	broad.mit.edu	37	chrX	63569916	63569916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaggtaacagatttaGgaaccactatttcaggaggg	13	10	10	8	0	1	1	1	0	0	1	2	3	2	3	2	4	2	1	2	4	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:63569916G>T	ENST00000374852.3	-	5	570	c.503C>A	c.(502-504)cCt>cAt	p.P168H	MTMR8_ENST00000453546.1_Missense_Mutation_p.P168H	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	168	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AACAGATTTAGGAACCACTAT	0.348													T	63569916	G	T	63569916	3	4	364	1	0	0	0	0	1	0	0	0	10025	1000	35	4	1651	4	MTMR8	23	63569916	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	124740	63569916	91700644	15225	38727											
ZC3H12B	340554	broad.mit.edu	37	chrX	64708943	64708943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgatcaccctgcctagatCgtccaagtttctcccagagc	8	10	8	15	2	2	2	1	0	1	2	6	3	3	2	4	0	2	1	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64708943C>T	ENST00000338957.4	+	1	329	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R77C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	77							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						CTGCCTAGATCGTCCAAGTTT	0.502													T	64708943	C	T	64708943	3	4	364	1	0	0	0	0	1	0	0	0	17663	884	31	1	264	1	ZC3H12B	23	64708943	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1139027	64708943	90561617	15226	38728											
LAS1L	81887	broad.mit.edu	37	chrX	64743531	64743531	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcggagcagttgaacaGcctccagccccttcttgctt	7	9	12	13	1	1	1	0	1	1	0	2	3	2	3	4	3	5	3	4	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:64743531G>T	ENST00000374811.3	-	11	1397	c.1357C>A	c.(1357-1359)Ctg>Atg	p.L453M	LAS1L_ENST00000374804.5_Missense_Mutation_p.L394M|LAS1L_ENST00000312391.8_3'UTR|LAS1L_ENST00000374807.5_Missense_Mutation_p.L436M	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	453						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						CAGTTGAACAGCCTCCAGCCC	0.592													T	64743531	G	T	64743531	3	4	364	1	0	0	0	0	1	0	0	0	8695	962	34	4	863	4	LAS1L	23	64743531	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	34588	64743531	90527029	15227	38729											
HEPH	9843	broad.mit.edu	37	chrX	65428014	65428014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtggtattcaagaataatgCcagccgcccctactctgtgc	9	11	9	12	1	2	1	1	0	1	1	2	1	2	1	4	1	4	1	4	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:65428014C>T	ENST00000519389.1	+	15	2830	c.2651C>T	c.(2650-2652)gCc>gTc	p.A884V	HEPH_ENST00000441993.2_Missense_Mutation_p.A833V|HEPH_ENST00000419594.1_Missense_Mutation_p.A641V|HEPH_ENST00000336279.5_Missense_Mutation_p.A563V|HEPH_ENST00000343002.2_Missense_Mutation_p.A830V|HEPH_ENST00000374727.3_Missense_Mutation_p.A833V			Q9BQS7	HEPH_HUMAN	hephaestin	830	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	p.A830V(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AAGAATAATGCCAGCCGCCCC	0.413													T	65428014	C	T	65428014	3	4	364	1	0	0	0	0	1	0	0	0	7109	739	26	2	2709	2	HEPH	23	65428014	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	684483	65428014	89842546	15228	38730											
AR	367	broad.mit.edu	37	chrX	66765080	66765080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctgttccagagcgtgcGcgaagtgatccagaacccgg	10	7	13	11	4	1	3	0	1	1	2	3	5	3	3	3	1	3	1	3	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66765080G>A	ENST00000374690.3	+	1	616	c.92G>A	c.(91-93)cGc>cAc	p.R31H	AR_ENST00000396044.3_Missense_Mutation_p.R31H|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.R31H	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	31	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGAGCGTGCGCGAAGTGATC	0.647									Androgen Insensitivity Syndrome				A	66765080	G	A	66765080	3	1	364	1	0	0	0	0	1	0	0	0	839	1087	38	1	94	1	AR	23	66765080	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1337066	66765080	88505480	15229	38731											
AR	367	broad.mit.edu	37	chrX	66766152	66766152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccccacgctcgcatcaaGctggagaacccgctggacta	10	6	9	16	3	1	1	1	0	0	1	3	3	2	2	3	2	2	4	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:66766152G>A	ENST00000374690.3	+	1	1688	c.1164G>A	c.(1162-1164)aaG>aaA	p.K388K	AR_ENST00000396044.3_Silent_p.K388K|AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Silent_p.K388K	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	386	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTCGCATCAAGCTGGAGAACC	0.711									Androgen Insensitivity Syndrome				A	66766152	G	A	66766152	2	1	364	1	0	0	0	0	0	0	0	1	839	962	34	2		2	AR	23	66766152	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1072	66766152	88504408	15230	38732											
OPHN1	4983	broad.mit.edu	37	chrX	67417060	67417060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatggcttccatccataGccttctgttagcttctgaaa	9	14	6	12	0	2	1	0	1	2	0	5	1	5	1	4	1	2	3	4	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67417060G>T	ENST00000355520.5	-	12	1713	c.1072C>A	c.(1072-1074)Cta>Ata	p.L358I	OPHN1_ENST00000540071.1_Missense_Mutation_p.L358I	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	358	PH.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TCCATCCATAGCCTTCTGTTA	0.478													T	67417060	G	T	67417060	3	4	364	1	0	0	0	0	1	0	0	0	10951	962	34	4	1388	4	OPHN1	23	67417060	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	650908	67417060	87853500	15231	38733											
YIPF6	286451	broad.mit.edu	37	chrX	67731767	67731767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccattcctatgagatctcGcatccgggagtttgacagct	9	11	9	12	2	1	2	0	2	1	1	4	4	3	3	3	1	1	3	3	1	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67731767G>A	ENST00000462683.1	+	2	878	c.134G>A	c.(133-135)cGc>cAc	p.R45H	YIPF6_ENST00000374622.2_Intron|YIPF6_ENST00000470730.1_3'UTR	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	45						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						ATGAGATCTCGCATCCGGGAG	0.423													A	67731767	G	A	67731767	3	1	364	1	0	0	0	0	1	0	0	0	17584	1087	38	1	140	1	YIPF6	23	67731767	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314707	67731767	87538793	15232	38734											
YIPF6	286451	broad.mit.edu	37	chrX	67741284	67741284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagaggtgtttgtcattGtctggtttggtgcagttacc	5	17	13	6	0	2	1	1	0	1	1	2	1	2	1	1	3	3	5	1	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67741284G>A	ENST00000462683.1	+	5	1123	c.379G>A	c.(379-381)Gtc>Atc	p.V127I	YIPF6_ENST00000374622.2_Missense_Mutation_p.V84I	NM_173834.3	NP_776195.2	Q96EC8	YIPF6_HUMAN	Yip1 domain family, member 6	127						endoplasmic reticulum|integral to membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	7						GTTTGTCATTGTCTGGTTTGG	0.418													A	67741284	G	A	67741284	3	1	364	1	0	0	0	0	1	0	0	0	17584	1377	48	2	397	2	YIPF6	23	67741284	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9517	67741284	87529276	15233	38735											
STARD8	9754	broad.mit.edu	37	chrX	67937777	67937777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtggggctgtgaggggCgccggggctcctgtggctca	2	7	22	10	3	1	1	1	1	0	0	2	1	2	1	2	9	0	3	2	9	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67937777C>T	ENST00000252336.6	+	5	1153	c.781C>T	c.(781-783)Cgc>Tgc	p.R261C	STARD8_ENST00000374597.3_Missense_Mutation_p.R261C|STARD8_ENST00000374599.3_Missense_Mutation_p.R341C	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	261					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						CTGTGAGGGGCGCCGGGGCTC	0.637													T	67937777	C	T	67937777	3	4	364	1	0	0	0	0	1	0	0	0	15359	768	27	1	1043	1	STARD8	23	67937777	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	196493	67937777	87332783	15234	38736											
STARD8	9754	broad.mit.edu	37	chrX	67939137	67939137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcgctggagatcaacCggcagtttgcaggccagatc	10	7	13	11	2	1	3	1	0	0	3	3	4	1	3	2	3	2	4	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:67939137C>T	ENST00000252336.6	+	6	1918	c.1546C>T	c.(1546-1548)Cgg>Tgg	p.R516W	STARD8_ENST00000374597.3_Missense_Mutation_p.R516W|STARD8_ENST00000374599.3_Missense_Mutation_p.R596W	NM_014725.4	NP_055540.2	Q92502	STAR8_HUMAN	StAR-related lipid transfer (START) domain containing 8	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion	GTPase activator activity			NS(2)|breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	50						GGAGATCAACCGGCAGTTTGC	0.602													T	67939137	C	T	67939137	3	4	364	1	0	0	0	0	1	0	0	0	15359	643	23	1	1812	1	STARD8	23	67939137	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1360	67939137	87331423	15235	38737											
EFNB1	1947	broad.mit.edu	37	chrX	68060409	68060409	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactactgcccccactatgAgaaggtgagtggggactacg	11	7	12	11	1	0	2	0	2	0	1	0	4	0	3	2	3	4	0	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:68060409A>G	ENST00000204961.4	+	5	1733	c.953A>G	c.(952-954)gAg>gGg	p.E318G		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	318					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						CCCCACTATGAGAAGGTGAGT	0.612													G	68060409	A	G	68060409	3	3	364	1	0	0	0	0	1	0	0	0	4994	304	11	3	971	3	EFNB1	23	68060409	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	121272	68060409	87210151	15236	38738											
OTUD6A	139562	broad.mit.edu	37	chrX	69282892	69282892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggagatgctgcgctgccGcaccgccagctacatgaaga	9	7	13	12	3	0	3	0	1	0	2	0	4	0	3	3	1	5	4	3	1	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69282892G>A	ENST00000338352.2	+	1	552	c.518G>A	c.(517-519)cGc>cAc	p.R173H		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	173	OTU.									autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						CTGCGCTGCCGCACCGCCAGC	0.602													A	69282892	G	A	69282892	3	1	364	1	0	0	0	0	1	0	0	0	11392	1087	38	1	520	1	OTUD6A	23	69282892	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1222483	69282892	85987668	15237	38739											
AWAT1	158833	broad.mit.edu	37	chrX	69459754	69459754	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaaggctccactgggctcCtgccatactccaggcctatt	7	10	9	15	0	1	0	1	0	0	0	4	0	4	0	5	3	2	2	5	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69459754C>A	ENST00000374521.3	+	6	843	c.802C>A	c.(802-804)Ctg>Atg	p.L268M		NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	268					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	long-chain-alcohol O-fatty-acyltransferase activity			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						CACTGGGCTCCTGCCATACTC	0.537													A	69459754	C	A	69459754	3	1	364	1	0	0	0	0	1	0	0	0	1239	680	24	4	824	4	AWAT1	23	69459754	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	176862	69459754	85810806	15238	38740											
P2RY4	5030	broad.mit.edu	37	chrX	69478906	69478906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtcaaactcttcaggcCgagtggtgtcatggcacagg	9	9	14	9	1	4	0	3	0	1	0	4	1	4	0	1	5	1	1	1	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69478906C>T	ENST00000374519.2	-	1	748	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	190					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R190P(1)|p.R190S(1)		cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CTCTTCAGGCCGAGTGGTGTC	0.572													T	69478906	C	T	69478906	3	4	364	1	0	0	0	0	1	0	0	0	11429	652	23	1	532	1	P2RY4	23	69478906	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	19152	69478906	85791654	15239	38741											
P2RY4	5030	broad.mit.edu	37	chrX	69479340	69479340	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaagcccagcacaaaGacaactgcatagctcacagg	15	3	9	14	0	1	1	1	0	0	1	1	1	1	1	2	2	5	3	2	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69479340G>T	ENST00000374519.2	-	1	314	c.135C>A	c.(133-135)gtC>gtA	p.V45V		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						CCAGCACAAAGACAACTGCAT	0.567													T	69479340	G	T	69479340	2	4	364	1	0	0	0	0	0	0	0	1	11429	929	33	4		4	P2RY4	23	69479340	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	434	69479340	85791220	15240	38742											
ARR3	407	broad.mit.edu	37	chrX	69495966	69495966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatgtgcctttcgctatggCcgtgatgacttggaagtgat	8	13	12	8	2	0	3	0	3	0	0	1	4	0	4	2	2	1	1	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69495966C>T	ENST00000374495.3	+	6	278	c.180C>T	c.(178-180)ggC>ggT	p.G60G	ARR3_ENST00000307959.8_Silent_p.G60G			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	60					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						TTCGCTATGGCCGTGATGACT	0.542													T	69495966	C	T	69495966	2	4	364	1	0	0	0	0	0	0	0	1	984	726	26	2		2	ARR3	23	69495966	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16626	69495966	85774594	15241	38743											
KIF4A	24137	broad.mit.edu	37	chrX	69637830	69637830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctgtgaccccacaaaGtgtcggaaccgccagcaagg	10	7	12	12	2	0	1	0	1	0	0	1	2	0	2	4	2	3	3	4	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69637830G>T	ENST00000374403.3	+	29	3430	c.3348G>T	c.(3346-3348)aaG>aaT	p.K1116N		NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	1116	Globular.|Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						ACCCCACAAAGTGTCGGAACC	0.532													T	69637830	G	T	69637830	3	4	364	1	0	0	0	0	1	0	0	0	8361	1020	36	4	3458	4	KIF4A	23	69637830	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	141864	69637830	85632730	15242	38744											
GDPD2	54857	broad.mit.edu	37	chrX	69646847	69646847	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgggctggtgggacacCgaggggcccccatggtgagt	6	6	18	11	1	0	1	0	1	0	0	0	3	0	2	4	6	1	1	4	6	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69646847C>T	ENST00000453994.2	+	8	1049	c.688C>T	c.(688-690)Cga>Tga	p.R230*	GDPD2_ENST00000538649.1_Nonsense_Mutation_p.R151*|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Nonsense_Mutation_p.R230*|GDPD2_ENST00000536730.1_Nonsense_Mutation_p.R151*	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	230	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GGTGGGACACCGAGGGGCCCC	0.612													T	69646847	C	T	69646847	4	4	364	1	0	0	0	0	0	1	0	0	6380	644	23	1	714	1	GDPD2	23	69646847	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9017	69646847	85623713	15243	38745											
GDPD2	54857	broad.mit.edu	37	chrX	69652787	69652787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgttaagaagagagggaaaActggtaagaactttctcccc	14	10	10	7	0	1	3	0	0	1	3	2	5	1	4	2	2	2	2	2	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69652787A>G	ENST00000453994.2	+	16	2078	c.1717A>G	c.(1717-1719)Act>Gct	p.T573A	GDPD2_ENST00000538649.1_Missense_Mutation_p.T443A|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000374382.3_Missense_Mutation_p.T522A|GDPD2_ENST00000536730.1_Missense_Mutation_p.T443A	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	522					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GAGAGGGAAAACTGGTAAGAA	0.527													G	69652787	A	G	69652787	3	3	364	1	0	0	0	0	1	0	0	0	6380	43	2	3	1775	3	GDPD2	23	69652787	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5940	69652787	85617773	15244	38746											
DLG3	1741	broad.mit.edu	37	chrX	69712375	69712376	+	Frame_Shift_Ins	INS	-	-	A																															ctgattccaaaacagggtggINSaaaagaaagaaagagctcga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:69712375_69712376insA	ENST00000194900.4	+	13	2097_2098	c.1756_1757insA	c.(1756-1758)gaafs	p.E586fs	DLG3_ENST00000374360.3_Frame_Shift_Ins_p.E568fs|DLG3_ENST00000374355.3_Frame_Shift_Ins_p.E231fs|DLG3_ENST00000542398.1_Frame_Shift_Ins_p.E85fs			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	568					axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					AAACAGGGTGGAAAAGAAAGAA	0.48													A	69712376	-	A	69712375	7	5	364	1	0	1	1	0	0	0	0	0	4595	1175	41	0	1886	0	DLG3	23	69712375	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	59588	69712375	85558185	15245	38747											
CXorf65	158830	broad.mit.edu	37	chrX	70325979	70325979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccgtttgttcacacaaatCgatggtgtctggagggagat	9	11	12	9	2	2	1	1	0	1	1	3	4	2	2	2	3	0	2	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70325979C>T	ENST00000374251.5	-	3	169	c.121G>A	c.(121-123)Gat>Aat	p.D41N		NM_001025265.2	NP_001020436.1	A6NEN9	CX065_HUMAN	chromosome X open reading frame 65											breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)	10						TCACACAAATCGATGGTGTCT	0.473													T	70325979	C	T	70325979	3	4	364	1	0	0	0	0	1	0	0	0	4150	884	31	1	446	1	CXorf65	23	70325979	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	613604	70325979	84944581	15246	38748											
MED12	9968	broad.mit.edu	37	chrX	70339947	70339947	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcgggctgcctggctcatTaagatgacctgtgcctacta	8	11	11	11	1	1	2	1	1	0	1	1	2	1	2	3	2	4	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70339947T>C	ENST00000333646.6	+	4	679	c.480T>C	c.(478-480)atT>atC	p.I160I	MED12_ENST00000374080.3_Silent_p.I160I|MED12_ENST00000374102.1_Silent_p.I160I	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	160					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CCTGGCTCATTAAGATGACCT	0.478			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						C	70339947	T	C	70339947	2	2	364	1	0	0	0	0	0	0	0	1	9503	1742	61	3		3	MED12	23	70339947	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	13968	70339947	84930613	15247	38749											
MED12	9968	broad.mit.edu	37	chrX	70344032	70344032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctcgaagtgagagtgagCgggtggaattctttaactta	11	11	12	7	2	1	2	0	2	1	1	2	5	1	3	1	2	2	0	1	2	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70344032C>T	ENST00000333646.6	+	13	1967	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	MED12_ENST00000374080.3_Missense_Mutation_p.R590W|MED12_ENST00000374102.1_Missense_Mutation_p.R590W	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	590					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TGAGAGTGAGCGGGTGGAATT	0.473			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						T	70344032	C	T	70344032	3	4	364	1	0	0	0	0	1	0	0	0	9503	759	27	1	1818	1	MED12	23	70344032	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4085	70344032	84926528	15248	38750											
MED12	9968	broad.mit.edu	37	chrX	70347223	70347223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatgggatgaaccggtccGatggctcctctgcagagcgc	8	7	14	12	3	1	2	0	1	1	1	3	4	3	3	3	3	4	3	3	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70347223G>A	ENST00000333646.6	+	21	3086	c.2887G>A	c.(2887-2889)Gat>Aat	p.D963N	MED12_ENST00000374080.3_Missense_Mutation_p.D963N|MED12_ENST00000374102.1_Missense_Mutation_p.D963N|MED12_ENST00000462984.1_3'UTR	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	963					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GAACCGGTCCGATGGCTCCTC	0.512			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70347223	G	A	70347223	3	1	364	1	0	0	0	0	1	0	0	0	9503	1058	37	1	2969	1	MED12	23	70347223	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3191	70347223	84923337	15249	38751											
MED12	9968	broad.mit.edu	37	chrX	70349265	70349265	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtttgctgttctcaaggCtgtgtttgtacttggtacgg	4	17	13	7	2	1	0	1	0	1	0	2	0	1	0	0	3	3	7	0	3	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349265C>A	ENST00000333646.6	+	26	3876	c.3677C>A	c.(3676-3678)gCt>gAt	p.A1226D	MED12_ENST00000374080.3_Missense_Mutation_p.A1226D|MED12_ENST00000374102.1_Missense_Mutation_p.A1226D	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1226					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTTCTCAAGGCTGTGTTTGTA	0.562			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	70349265	C	A	70349265	3	1	364	1	0	0	0	0	1	0	0	0	9503	797	28	4	3779	4	MED12	23	70349265	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2042	70349265	84921295	15250	38752											
MED12	9968	broad.mit.edu	37	chrX	70349570	70349570	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcttcactgtgacaggAggaacagaagaacttccaga	14	7	11	9	0	2	4	2	1	0	3	3	6	3	6	1	3	2	1	1	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70349570A>G	ENST00000333646.6	+	27	3931	c.3732A>G	c.(3730-3732)ggA>ggG	p.G1244G	MED12_ENST00000374080.3_Silent_p.G1244G|MED12_ENST00000374102.1_Silent_p.G1244G	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1244					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					CTGTGACAGGAGGAACAGAAG	0.582			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome				OREG0019857	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	70349570	A	G	70349570	2	3	364	1	0	0	0	0	0	0	0	1	9503	291	11	3		3	MED12	23	70349570	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	305	70349570	84920990	15251	38753											
MED12	9968	broad.mit.edu	37	chrX	70352363	70352363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggttcctcttcacgcaaaGaacgtgatcgacaaaagcag	13	8	10	10	3	2	2	1	1	1	1	4	3	3	2	1	1	2	3	1	1	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70352363G>A	ENST00000333646.6	+	31	4589	c.4390G>A	c.(4390-4392)Gaa>Aaa	p.E1464K	MED12_ENST00000374080.3_Missense_Mutation_p.E1464K|MED12_ENST00000374102.1_Missense_Mutation_p.E1464K	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1464					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					TTCACGCAAAGAACGTGATCG	0.517			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70352363	G	A	70352363	3	1	364	1	0	0	0	0	1	0	0	0	9503	943	33	2	4512	2	MED12	23	70352363	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2793	70352363	84918197	15252	38754											
MED12	9968	broad.mit.edu	37	chrX	70354681	70354681	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagcgtgcatacatgaacCtggcgaagaagttgcaggta	14	7	12	8	2	0	2	0	1	0	1	0	3	0	2	1	2	5	4	1	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70354681C>A	ENST00000333646.6	+	35	5045	c.4846C>A	c.(4846-4848)Ctg>Atg	p.L1616M	MED12_ENST00000374080.3_Missense_Mutation_p.L1616M|MED12_ENST00000374102.1_Missense_Mutation_p.L1616M	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1616	Interaction with CTNNB1 and GLI3.				androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					ATACATGAACCTGGCGAAGAA	0.537			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70354681	C	A	70354681	3	1	364	1	0	0	0	0	1	0	0	0	9503	680	24	4	4984	4	MED12	23	70354681	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2318	70354681	84915879	15253	38755											
ZMYM3	9203	broad.mit.edu	37	chrX	70460821	70460821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcataaatctcgcgcacaGccaggatgcgattgagcatg	11	8	10	12	3	2	1	1	1	1	0	3	3	2	2	2	1	3	2	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70460821G>A	ENST00000373998.1	-	25	4719	c.4022C>T	c.(4021-4023)gCt>gTt	p.A1341V	ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1355V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1263V|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1353V|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1353V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1353					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CTCGCGCACAGCCAGGATGCG	0.547													A	70460821	G	A	70460821	3	1	364	1	0	0	0	0	1	0	0	0	17802	971	34	2	58	2	ZMYM3	23	70460821	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	106140	70460821	84809739	15254	38756											
ZMYM3	9203	broad.mit.edu	37	chrX	70463819	70463819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaatatcctctttgatacGcatgggtttggctgcagtga	9	13	12	7	1	1	3	0	2	1	1	2	4	2	3	1	2	2	4	1	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70463819G>A	ENST00000373998.1	-	21	3953	c.3256C>T	c.(3256-3258)Cgt>Tgt	p.R1086C	ZMYM3_ENST00000373988.1_Missense_Mutation_p.R1100C|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Missense_Mutation_p.R1093C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.R1098C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.R1098C	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1098					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.R1098C(1)|p.R1098fs*22(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TCTTTGATACGCATGGGTTTG	0.478													A	70463819	G	A	70463819	3	1	364	1	0	0	0	0	1	0	0	0	17802	1087	38	1	840	1	ZMYM3	23	70463819	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2998	70463819	84806741	15255	38757											
ZMYM3	9203	broad.mit.edu	37	chrX	70465908	70465908	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactggcacgaagatgggCactgggatgggcagcacgat	10	5	17	9	2	0	1	0	0	0	1	0	4	0	2	0	5	1	5	0	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70465908C>T	ENST00000373998.1	-	16	3274	c.2577G>A	c.(2575-2577)gtG>gtA	p.V859V	ZMYM3_ENST00000373988.1_Silent_p.V873V|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.V873V|ZMYM3_ENST00000353904.2_Silent_p.V871V|ZMYM3_ENST00000314425.5_Silent_p.V871V	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	871					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					CGAAGATGGGCACTGGGATGG	0.577													T	70465908	C	T	70465908	2	4	364	1	0	0	0	0	0	0	0	1	17802	697	25	2		2	ZMYM3	23	70465908	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2089	70465908	84804652	15256	38758											
ZMYM3	9203	broad.mit.edu	37	chrX	70469915	70469915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgctgcagcgagtagcgtcGgcgggatccccagactgggg	7	6	17	11	4	0	1	0	0	0	1	2	3	1	2	2	4	4	3	2	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70469915G>A	ENST00000373978.1	-	5	1000	c.923C>T	c.(922-924)cCg>cTg	p.P308L	ZMYM3_ENST00000373988.1_Silent_p.A406A|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373984.3_Silent_p.A406A|ZMYM3_ENST00000353904.2_Silent_p.A404A|ZMYM3_ENST00000373998.1_Silent_p.A404A|ZMYM3_ENST00000314425.5_Silent_p.A404A|ZMYM3_ENST00000373982.1_Silent_p.A406A|ZMYM3_ENST00000373981.1_Silent_p.A404A			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GAGTAGCGTCGGCGGGATCCC	0.622													A	70469915	G	A	70469915	3	1	364	1	0	0	0	0	1	0	0	0	17802	1103	39	1	2998	1	ZMYM3	23	70469915	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4007	70469915	84800645	15257	38759											
NONO	4841	broad.mit.edu	37	chrX	70519876	70519876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctcctgcattcaacCgtgcagctcctggagctgaa	9	9	9	14	1	1	1	1	1	0	0	4	3	4	2	4	1	6	4	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70519876C>T	ENST00000535149.1	+	10	1742	c.1099C>T	c.(1099-1101)Cgt>Tgt	p.R367C	NONO_ENST00000276079.8_Missense_Mutation_p.R456C|NONO_ENST00000373856.3_Missense_Mutation_p.R456C|NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373841.1_Missense_Mutation_p.R456C	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	456	DBHS.			QQ -> HE (in Ref. 3 and 4).	DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					TGCATTCAACCGTGCAGCTCC	0.458			T	TFE3	papillary renal cancer								T	70519876	C	T	70519876	3	4	364	1	0	0	0	0	1	0	0	0	10610	652	23	1	1404	1	NONO	23	70519876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49961	70519876	84750684	15258	38760											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70523713	70523713	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctggattttggggcattCttggcacaaccagggtgcag	8	10	13	10	0	1	0	0	0	1	0	1	1	1	1	2	5	2	3	2	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70523713C>A	ENST00000538820.1	+	7	877	c.537C>A	c.(535-537)ttC>ttA	p.F179L	ITGB1BP2_ENST00000465388.1_3'UTR|ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.F197L			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	197	CHORD 2.|Cys-rich.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					TTGGGGCATTCTTGGCACAAC	0.478													A	70523713	C	A	70523713	3	1	364	1	0	0	0	0	1	0	0	0	7950	912	32	4	621	4	ITGB1BP2	23	70523713	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3837	70523713	84746847	15259	38761											
TAF1	6872	broad.mit.edu	37	chrX	70586309	70586309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcggcaacatcaatggaGccgggcagctggagggggaa	10	7	16	8	2	1	0	1	0	0	0	2	3	1	3	1	6	3	3	1	6	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70586309G>A	ENST00000449580.1	+	1	196	c.145G>A	c.(145-147)Gcc>Acc	p.A49T	TAF1_ENST00000423759.1_Missense_Mutation_p.A49T|TAF1_ENST00000276072.3_Missense_Mutation_p.A49T|TAF1_ENST00000373790.4_Missense_Mutation_p.A49T			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	49	Protein kinase 1.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CATCAATGGAGCCGGGCAGCT	0.627													A	70586309	G	A	70586309	3	1	364	1	0	0	0	0	1	0	0	0	15610	971	34	2	147	2	TAF1	23	70586309	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62596	70586309	84684251	15260	38762											
TAF1	6872	broad.mit.edu	37	chrX	70627449	70627449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataagtccatccaccggcGccgcacagaccctatggtga	10	7	9	15	3	1	2	1	1	0	1	3	2	3	2	5	2	0	1	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627449G>A	ENST00000449580.1	+	27	4181	c.4130G>A	c.(4129-4131)cGc>cAc	p.R1377H	TAF1_ENST00000423759.1_Missense_Mutation_p.R1398H|TAF1_ENST00000276072.3_Missense_Mutation_p.R1398H|TAF1_ENST00000373790.4_Missense_Mutation_p.R1377H			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1377	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				ATCCACCGGCGCCGCACAGAC	0.448													A	70627449	G	A	70627449	3	1	364	1	0	0	0	0	1	0	0	0	15610	1087	38	1	4299	1	TAF1	23	70627449	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41140	70627449	84643111	15261	38763											
TAF1	6872	broad.mit.edu	37	chrX	70627487	70627487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacgctgtcgtccatcttgGagtctatcatcaatgacatg	9	13	9	10	2	4	2	2	2	2	0	6	3	5	3	1	1	0	1	1	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70627487G>A	ENST00000449580.1	+	27	4219	c.4168G>A	c.(4168-4170)Gag>Aag	p.E1390K	TAF1_ENST00000423759.1_Missense_Mutation_p.E1411K|TAF1_ENST00000276072.3_Missense_Mutation_p.E1411K|TAF1_ENST00000373790.4_Missense_Mutation_p.E1390K			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1390	Interaction with ASF1A and ASF1B.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTCCATCTTGGAGTCTATCAT	0.453													A	70627487	G	A	70627487	3	1	364	1	0	0	0	0	1	0	0	0	15610	1175	41	2	4337	2	TAF1	23	70627487	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	38	70627487	84643073	15262	38764											
OGT	8473	broad.mit.edu	37	chrX	70757810	70757810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattatcgacatgcattgcGtctcaaacctgatttcatcg	10	13	7	11	3	2	1	2	1	1	0	5	2	2	1	1	0	3	2	1	0	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70757810G>A	ENST00000373719.3	+	3	567	c.350G>A	c.(349-351)cGt>cAt	p.R117H	OGT_ENST00000373701.3_Missense_Mutation_p.R107H|OGT_ENST00000498566.1_3'UTR	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	117					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.R117H(1)|p.R107H(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATGCATTGCGTCTCAAACCT	0.493													A	70757810	G	A	70757810	3	1	364	1	0	0	0	0	1	0	0	0	10923	1145	40	1	360	1	OGT	23	70757810	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	130323	70757810	84512750	15263	38765											
OGT	8473	broad.mit.edu	37	chrX	70783181	70783181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgcatttttttttcagatGaagtgtcctgatggaggaga	10	15	12	4	0	1	4	1	2	0	2	2	7	2	5	1	2	1	1	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70783181G>A	ENST00000373719.3	+	18	2485	c.2268G>A	c.(2266-2268)atG>atA	p.M756I	OGT_ENST00000373701.3_Missense_Mutation_p.M746I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	756					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TTTTTCAGATGAAGTGTCCTG	0.353													A	70783181	G	A	70783181	3	1	364	1	0	0	0	0	1	0	0	0	10923	1290	45	2	2338	2	OGT	23	70783181	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	25371	70783181	84487379	15264	38766											
OGT	8473	broad.mit.edu	37	chrX	70787571	70787571	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacagggatggatgtcctCtgggcagggacccccatggt	8	7	14	12	0	1	0	0	0	1	0	2	3	2	3	4	5	0	1	4	5	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70787571C>A	ENST00000373719.3	+	20	3028	c.2811C>A	c.(2809-2811)ctC>ctA	p.L937L	OGT_ENST00000373701.3_Silent_p.L927L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	937					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					TGGATGTCCTCTGGGCAGGGA	0.517													A	70787571	C	A	70787571	2	1	364	1	0	0	0	0	0	0	0	1	10923	900	32	4		4	OGT	23	70787571	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4390	70787571	84482989	15265	38767											
CXCR3	2833	broad.mit.edu	37	chrX	70836749	70836749	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctcgtcgtggtgggcCgacaggaagatgaagtctgg	8	7	18	8	4	1	2	0	1	1	1	3	4	1	3	1	5	0	1	1	5	2	0	rs148752439		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:70836749C>T	ENST00000373691.4	-	2	877	c.714G>A	c.(712-714)tcG>tcA	p.S238S	CXCR3_ENST00000373693.3_Silent_p.S191S	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	191					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CGTGGTGGGCCGACAGGAAGA	0.682													T	70836749	C	T	70836749	2	4	364	1	0	0	0	0	0	0	0	1	4125	639	23	1		1	CXCR3	23	70836749	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49178	70836749	84433811	15266	38768											
RGAG4	340526	broad.mit.edu	37	chrX	71350056	71350056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacctcaccataggtctcCtcagtccctggatcctgctg	6	11	7	17	0	3	0	2	0	1	0	7	1	6	1	6	2	1	1	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350056C>A	ENST00000545866.1	-	1	1702	c.1335G>T	c.(1333-1335)gaG>gaT	p.E445D	RGAG4_ENST00000609883.1_Missense_Mutation_p.E445D|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	445										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					CATAGGTCTCCTCAGTCCCTG	0.532													A	71350056	C	A	71350056	3	1	364	1	0	0	0	0	1	0	0	0	13363	680	24	4	378	4	RGAG4	23	71350056	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	513307	71350056	83920504	15267	38769											
RGAG4	340526	broad.mit.edu	37	chrX	71350537	71350537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccataagagctctttgCggaagaattccgacaggcct	11	10	10	10	2	1	3	0	1	1	2	2	5	2	4	3	2	2	1	3	2	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71350537C>T	ENST00000545866.1	-	1	1221	c.854G>A	c.(853-855)cGc>cAc	p.R285H	RGAG4_ENST00000609883.1_Missense_Mutation_p.R285H|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	285										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GAGCTCTTTGCGGAAGAATTC	0.502													T	71350537	C	T	71350537	3	4	364	1	0	0	0	0	1	0	0	0	13363	768	27	1	859	1	RGAG4	23	71350537	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	481	71350537	83920023	15268	38770											
NHSL2	340527	broad.mit.edu	37	chrX	71359883	71359883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggttactcagtccgacctaCgttctgttcgcctgaggtcg	5	13	11	12	4	2	1	1	1	1	0	5	2	3	1	3	2	2	3	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71359883C>T	ENST00000373677.1	+	2	2649	c.1387C>T	c.(1387-1389)Cgt>Tgt	p.R463C	NHSL2_ENST00000535692.1_Missense_Mutation_p.R463C|NHSL2_ENST00000540800.1_Missense_Mutation_p.R829C|NHSL2_ENST00000510661.1_Missense_Mutation_p.R598C			F5H593	F5H593_HUMAN	NHS-like 2	829										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					GTCCGACCTACGTTCTGTTCG	0.522													T	71359883	C	T	71359883	3	4	364	1	0	0	0	0	1	0	0	0	10488	536	19	1	2507	1	NHSL2	23	71359883	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9346	71359883	83910677	15269	38771											
ERCC6L	54821	broad.mit.edu	37	chrX	71425010	71425010	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttttccacgctttacaaGagtctcatagtcatttgtag	9	17	6	9	1	3	1	2	0	2	1	5	1	4	1	1	0	1	2	1	0	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71425010G>T	ENST00000373657.1	-	3	3840	c.3238C>A	c.(3238-3240)Ctt>Att	p.L1080I	ERCC6L_ENST00000334463.3_Missense_Mutation_p.L1203I|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	1203					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					CGCTTTACAAGAGTCTCATAG	0.463													T	71425010	G	T	71425010	3	4	364	1	0	0	0	0	1	0	0	0	5259	942	33	4	149	4	ERCC6L	23	71425010	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	65127	71425010	83845550	15270	38772											
ERCC6L	54821	broad.mit.edu	37	chrX	71426140	71426140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccattcccaatgaagagttaGtacaaagttcttctacactt	13	13	5	10	0	2	2	0	1	2	1	3	2	3	2	2	0	2	3	2	0	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71426140G>A	ENST00000373657.1	-	3	2710	c.2108C>T	c.(2107-2109)aCt>aTt	p.T703I	ERCC6L_ENST00000334463.3_Missense_Mutation_p.T826I|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	826					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					TGAAGAGTTAGTACAAAGTTC	0.408													A	71426140	G	A	71426140	3	1	364	1	0	0	0	0	1	0	0	0	5259	1029	36	2	1279	2	ERCC6L	23	71426140	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1130	71426140	83844420	15271	38773											
ERCC6L	54821	broad.mit.edu	37	chrX	71427039	71427039	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaaaacagagtaatctttAttttgctggaataagttaat	17	14	7	3	0	1	2	0	0	1	2	1	3	1	3	0	1	2	3	0	1	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71427039A>G	ENST00000373657.1	-	3	1811	c.1209T>C	c.(1207-1209)aaT>aaC	p.N403N	ERCC6L_ENST00000334463.3_Silent_p.N526N|PIN4_ENST00000423432.2_Intron			Q2NKX8	ERC6L_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6-like	526					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol	ATP binding|DNA binding|helicase activity|protein binding			breast(2)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(9)|lung(9)|ovary(3)|skin(1)	38	Renal(35;0.156)					AGTAATCTTTATTTTGCTGGA	0.383													G	71427039	A	G	71427039	2	3	364	1	0	0	0	0	0	0	0	1	5259	446	16	3		3	ERCC6L	23	71427039	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	899	71427039	83843521	15272	38774											
RPS4X	6191	broad.mit.edu	37	chrX	71494903	71494903	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttgcttgccacactcacCttggcctcctcaggtgtaat	7	12	8	14	0	2	0	2	0	0	0	3	0	3	0	4	2	3	3	4	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71494903C>A	ENST00000316084.6	-	4	464	c.360G>T	c.(358-360)aaG>aaT	p.K120N	RPS4X_ENST00000373626.3_Splice_Site_p.K120N|RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	120					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					CCACACTCACCTTGGCCTCCT	0.478													A	71494903	C	A	71494903	5	1	364	1	0	0	0	0	0	0	1	0	13736	695	24	4	447	4	RPS4X	23	71494903	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67864	71494903	83775657	15273	38775											
CITED1	4435	broad.mit.edu	37	chrX	71522666	71522666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggcaaaaattacctccttCgcaggtgaggtgccaccctt	10	10	9	12	1	0	1	0	1	0	0	2	1	1	1	4	3	2	2	4	3	3	3	rs141552530		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71522666C>T	ENST00000246139.5	-	2	629	c.54G>A	c.(52-54)gcG>gcA	p.A18A	CITED1_ENST00000373619.3_Silent_p.A18A|CITED1_ENST00000445983.1_Silent_p.A18A|CITED1_ENST00000431381.1_Silent_p.A44A	NM_004143.3	NP_004134.2	Q99966	CITE1_HUMAN	Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 1	18					apoptosis|branching involved in ureteric bud morphogenesis|cell proliferation|melanin biosynthetic process|melanocyte differentiation|mesenchymal to epithelial transition|metanephros development|negative regulation of neuron apoptosis|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|nucleocytoplasmic transport|placenta development|positive regulation of anti-apoptosis|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to cAMP|response to estrogen stimulus|response to insulin stimulus|response to interferon-gamma|response to interleukin-1|response to interleukin-11|response to interleukin-2|response to interleukin-4|response to interleukin-6|response to interleukin-9|response to lipopolysaccharide|response to parathyroid hormone stimulus|response to transforming growth factor beta stimulus|SMAD protein signal transduction|transforming growth factor beta receptor signaling pathway	cytosol|nucleus	chromatin binding|co-SMAD binding|LBD domain binding|protein C-terminus binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			skin(1)	1	Renal(35;0.156)					ttacctccttcgcaggTGAGG	0.517													T	71522666	C	T	71522666	2	4	364	1	0	0	0	0	0	0	0	1	3470	871	31	1		1	CITED1	23	71522666	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27763	71522666	83747894	15274	38776											
PHKA1	5255	broad.mit.edu	37	chrX	71846867	71846867	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttttcggagtgctgccaGgatacttgaattcaagcttg	9	14	10	8	1	1	1	1	1	0	0	2	3	1	3	1	2	4	2	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71846867G>T	ENST00000373545.3	-	17	2185	c.1747C>A	c.(1747-1749)Ctg>Atg	p.L583M	PHKA1_ENST00000373542.4_Missense_Mutation_p.L583M|PHKA1_ENST00000339490.3_Missense_Mutation_p.L583M|PHKA1_ENST00000541944.1_Missense_Mutation_p.L583M|PHKA1_ENST00000373539.3_Missense_Mutation_p.L583M			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	583					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					AGTGCTGCCAGGATACTTGAA	0.373													T	71846867	G	T	71846867	3	4	364	1	0	0	0	0	1	0	0	0	11920	991	35	4	1988	4	PHKA1	23	71846867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	324201	71846867	83423693	15275	38777											
PHKA1	5255	broad.mit.edu	37	chrX	71876093	71876093	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtacagacgattgggatcCtagtaaaaacacaataaagt	18	9	8	6	1	0	1	0	0	0	1	1	3	1	2	1	1	2	2	1	1	9	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71876093C>T	ENST00000373545.3	-	10	1357		c.e10-1		PHKA1_ENST00000373542.4_Splice_Site|PHKA1_ENST00000339490.3_Splice_Site|PHKA1_ENST00000541944.1_Splice_Site|PHKA1_ENST00000373539.3_Splice_Site			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)						glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GATTGGGATCCTAGTAAAAAC	0.368													T	71876093	C	T	71876093	5	4	364	1	0	0	0	0	0	0	1	0	11920	695	24	2	2845	2	PHKA1	23	71876093	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	29226	71876093	83394467	15276	38778											
PHKA1	5255	broad.mit.edu	37	chrX	71886144	71886144	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcagtagtgaatttaggaTagactaagagaaaagaagtt	17	9	13	2	0	0	4	0	1	0	3	0	6	0	5	0	2	0	3	0	2	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:71886144T>C	ENST00000373545.3	-	8	1159	c.721A>G	c.(721-723)Atc>Gtc	p.I241V	PHKA1_ENST00000373542.4_Missense_Mutation_p.I241V|PHKA1_ENST00000339490.3_Missense_Mutation_p.I241V|PHKA1_ENST00000541944.1_Missense_Mutation_p.I241V|PHKA1_ENST00000373539.3_Missense_Mutation_p.I241V			P46020	KPB1_HUMAN	phosphorylase kinase, alpha 1 (muscle)	241					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(2)|lung(18)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	52	Renal(35;0.156)					GAATTTAGGATAGACTAAGAG	0.378													C	71886144	T	C	71886144	3	2	364	1	0	0	0	0	1	0	0	0	11920	1406	49	3	3050	3	PHKA1	23	71886144	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	10051	71886144	83384416	15277	38779											
CDX4	1046	broad.mit.edu	37	chrX	72667186	72667186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggacaggcggcacaGggggcggtgggagtccgatg	7	4	21	9	3	0	0	0	0	0	0	1	3	1	2	1	7	1	2	1	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667186G>A	ENST00000373514.2	+	1	97	c.97G>A	c.(97-99)Ggg>Agg	p.G33R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	33						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					AGGCGGCACAGGGGGCGGTGG	0.607													A	72667186	G	A	72667186	3	1	364	1	0	0	0	0	1	0	0	0	3214	1000	35	2	99	2	CDX4	23	72667186	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	781042	72667186	82603374	15278	38780											
CDX4	1046	broad.mit.edu	37	chrX	72667386	72667386	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgggcacagtgccggtgaaCgacgtgacctctagccccgc	8	6	13	14	4	1	2	0	2	1	0	1	3	1	2	4	2	3	1	4	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72667386C>T	ENST00000373514.2	+	1	297	c.297C>T	c.(295-297)aaC>aaT	p.N99N		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	99						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					TGCCGGTGAACGACGTGACCT	0.647													T	72667386	C	T	72667386	2	4	364	1	0	0	0	0	0	0	0	1	3214	535	19	1		1	CDX4	23	72667386	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	200	72667386	82603174	15279	38781											
CDX4	1046	broad.mit.edu	37	chrX	72673430	72673430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggaaaaggaattccatTgcaatagatatatcaccatc	16	10	7	8	0	1	1	1	0	0	1	3	3	2	3	2	2	2	2	2	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:72673430T>C	ENST00000373514.2	+	2	580	c.580T>C	c.(580-582)Tgc>Cgc	p.C194R		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	194						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GGAATTCCATTGCAATAGATA	0.423													C	72673430	T	C	72673430	3	2	364	1	0	0	0	0	1	0	0	0	3214	1812	63	3	586	3	CDX4	23	72673430	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	6044	72673430	82597130	15280	38782											
ZCCHC13	389874	broad.mit.edu	37	chrX	73524566	73524566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcaactgctaccgctgcgGcaaatcccgacatctagcca	10	7	9	15	3	2	0	1	0	1	0	3	1	3	0	3	2	5	3	3	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73524566G>A	ENST00000339534.2	+	1	542	c.465G>A	c.(463-465)cgG>cgA	p.R155R		NM_203303.2	NP_976048.1	Q8WW36	ZCH13_HUMAN	zinc finger, CCHC domain containing 13	155							nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	8						TACCGCTGCGGCAAATCCCGA	0.527													A	73524566	G	A	73524566	2	1	364	1	0	0	0	0	0	0	0	1	17683	1190	42	2		2	ZCCHC13	23	73524566	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	851136	73524566	81745994	15281	38783											
SLC16A2	6567	broad.mit.edu	37	chrX	73740957	73740957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcattggcctccataccaGctccttcaccaggtaaggct	8	12	7	14	0	2	0	2	0	0	0	4	0	4	0	5	3	2	3	5	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73740957G>A	ENST00000276033.5	+	2	951	c.785G>A	c.(784-786)aGc>aAc	p.S262N	SLC16A2_ENST00000587091.1_Missense_Mutation_p.S188N			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	188						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	CTCCATACCAGCTCCTTCACC	0.502													A	73740957	G	A	73740957	3	1	364	1	0	0	0	0	1	0	0	0	14502	971	34	2	791	2	SLC16A2	23	73740957	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	216391	73740957	81529603	15282	38784											
RLIM	51132	broad.mit.edu	37	chrX	73815757	73815757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggtccatctgacttctgCgctgtgctgcagactgatca	7	12	10	12	2	3	3	1	2	2	1	5	3	4	3	1	1	3	3	1	1	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73815757C>T	ENST00000332687.6	-	2	274	c.56G>A	c.(55-57)cGc>cAc	p.R19H	RLIM_ENST00000349225.2_Missense_Mutation_p.R19H	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	19					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTGACTTCTGCGCTGTGCTGC	0.378													T	73815757	C	T	73815757	3	4	364	1	0	0	0	0	1	0	0	0	13481	768	27	1	1830	1	RLIM	23	73815757	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	74800	73815757	81454803	15283	38785											
KIAA2022	340533	broad.mit.edu	37	chrX	73959988	73959988	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtggacctgttctcgCtccatgtgctttcccttaca	4	16	7	14	1	1	0	0	0	1	0	5	1	4	1	4	1	2	3	4	1	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73959988C>A	ENST00000055682.6	-	3	5015	c.4404G>T	c.(4402-4404)gaG>gaT	p.E1468D		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CCTGTTCTCGCTCCATGTGCT	0.473													A	73959988	C	A	73959988	3	1	364	1	0	0	0	0	1	0	0	0	8327	796	28	4	154	4	KIAA2022	23	73959988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	144231	73959988	81310572	15284	38786											
KIAA2022	340533	broad.mit.edu	37	chrX	73960018	73960018	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcccttacatttctcatcTctcagggccttggagctgga	6	15	8	12	0	3	0	2	0	2	0	6	2	4	2	2	3	2	1	2	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960018T>G	ENST00000055682.6	-	3	4985	c.4374A>C	c.(4372-4374)agA>agC	p.R1458S		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						ATTTCTCATCTCTCAGGGCCT	0.433													G	73960018	T	G	73960018	3	3	364	1	0	0	0	0	1	0	0	0	8327	1548	54	5	184	5	KIAA2022	23	73960018	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	30	73960018	81310542	15285	38787											
KIAA2022	340533	broad.mit.edu	37	chrX	73960267	73960267	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctttttcttagactcCtgtggtgtcccagccaatat	7	17	7	10	0	2	2	0	1	2	1	4	2	4	2	3	1	1	0	3	1	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960267C>A	ENST00000055682.6	-	3	4736	c.4125G>T	c.(4123-4125)caG>caT	p.Q1375H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TCTTAGACTCCTGTGGTGTCC	0.458													A	73960267	C	A	73960267	3	1	364	1	0	0	0	0	1	0	0	0	8327	680	24	4	433	4	KIAA2022	23	73960267	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	249	73960267	81310293	15286	38788											
KIAA2022	340533	broad.mit.edu	37	chrX	73960348	73960348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatatgttgggatccccAtggtgctccatgggttccca	8	12	11	10	0	0	1	0	0	0	1	3	2	3	2	4	3	1	3	4	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960348A>G	ENST00000055682.6	-	3	4655	c.4044T>C	c.(4042-4044)caT>caC	p.H1348H		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						TGGGATCCCCATGGTGCTCCA	0.458													G	73960348	A	G	73960348	2	3	364	1	0	0	0	0	0	0	0	1	8327	214	8	3		3	KIAA2022	23	73960348	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	81	73960348	81310212	15287	38789											
KIAA2022	340533	broad.mit.edu	37	chrX	73960955	73960955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttggagcaggctgacaGaatcctcatcattgaacata	12	13	8	8	0	2	3	2	2	0	1	3	4	3	4	1	2	2	2	1	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73960955G>T	ENST00000055682.6	-	3	4048	c.3437C>A	c.(3436-3438)tCt>tAt	p.S1146Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						CAGGCTGACAGAATCCTCATC	0.393													T	73960955	G	T	73960955	3	4	364	1	0	0	0	0	1	0	0	0	8327	942	33	4	1121	4	KIAA2022	23	73960955	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	607	73960955	81309605	15288	38790											
KIAA2022	340533	broad.mit.edu	37	chrX	73962651	73962651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcctttcaagggtgccaGcttggcatatttgttgagct	8	13	12	8	0	1	1	1	1	0	0	1	2	1	1	2	2	4	4	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:73962651G>T	ENST00000055682.6	-	3	2352	c.1741C>A	c.(1741-1743)Ctg>Atg	p.L581M		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AAGGGTGCCAGCTTGGCATAT	0.448													T	73962651	G	T	73962651	3	4	364	1	0	0	0	0	1	0	0	0	8327	962	34	4	2817	4	KIAA2022	23	73962651	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1696	73962651	81307909	15289	38791											
ABCB7	22	broad.mit.edu	37	chrX	74282213	74282213	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcatcatagagtatgaCtggggggtccttcaaaatgg	11	11	12	7	0	3	2	3	1	0	1	4	2	4	2	1	4	1	2	1	4	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74282213C>A	ENST00000253577.3	-	14	1912	c.1888G>T	c.(1888-1890)Gtc>Ttc	p.V630F	ABCB7_ENST00000373394.3_Missense_Mutation_p.V629F|ABCB7_ENST00000339447.4_Missense_Mutation_p.V589F	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	629	ABC transporter.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TAGAGTATGACTGGGGGGTCC	0.348													A	74282213	C	A	74282213	3	1	364	1	0	0	0	0	1	0	0	0	46	565	20	4	385	4	ABCB7	23	74282213	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	319562	74282213	80988347	15290	38792											
ABCB7	22	broad.mit.edu	37	chrX	74289279	74289279	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgaaggggagatgccAtcactttgtcctagcaggga	10	10	13	8	0	2	3	1	2	1	1	3	5	3	4	2	3	2	1	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74289279A>C	ENST00000253577.3	-	11	1403	c.1379T>G	c.(1378-1380)aTg>aGg	p.M460R	ABCB7_ENST00000373394.3_Missense_Mutation_p.M459R|ABCB7_ENST00000339447.4_Missense_Mutation_p.M419R|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	459					cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GGGAGATGCCATCACTTTGTC	0.428													C	74289279	A	C	74289279	3	2	364	1	0	0	0	0	1	0	0	0	46	217	8	5	906	5	ABCB7	23	74289279	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	7066	74289279	80981281	15291	38793											
UPRT	139596	broad.mit.edu	37	chrX	74513320	74513320	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttaggacagccagtagaGgtgacttcatgttttctgcg	8	15	11	7	1	2	2	1	1	1	1	2	3	2	3	1	2	2	2	1	2	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:74513320G>T	ENST00000373379.1	+	2	565	c.400G>T	c.(400-402)Ggt>Tgt	p.G134C	UPRT_ENST00000530743.1_5'UTR|UPRT_ENST00000373383.4_Missense_Mutation_p.G134C|UPRT_ENST00000531704.1_3'UTR			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	134					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGCCAGTAGAGGTGACTTCAT	0.343													T	74513320	G	T	74513320	3	4	364	1	0	0	0	0	1	0	0	0	17116	1000	35	4	406	4	UPRT	23	74513320	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	224041	74513320	80757240	15292	38794											
MAGEE2	139599	broad.mit.edu	37	chrX	75003402	75003402	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctccctatattgttctggCcagttctgtggtcgctttct	3	17	9	12	1	3	0	0	0	3	0	5	0	4	0	3	2	0	3	3	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75003402C>T	ENST00000373359.2	-	1	1677	c.1485G>A	c.(1483-1485)tgG>tgA	p.W495*		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	495	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATTGTTCTGGCCAGTTCTGTG	0.478													T	75003402	C	T	75003402	4	4	364	1	0	0	0	0	0	1	0	0	9261	740	26	2	90	2	MAGEE2	23	75003402	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	490082	75003402	80267158	15293	38795											
MAGEE2	139599	broad.mit.edu	37	chrX	75004711	75004711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgggtcctgaacggcctggGaagtgttgacacactgagag	9	8	15	9	2	0	3	0	3	0	1	2	5	1	4	2	3	1	1	2	3	2	1	rs140206798	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75004711G>T	ENST00000373359.2	-	1	368	c.176C>A	c.(175-177)tCc>tAc	p.S59Y		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	59										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AACGGCCTGGGAAGTGTTGAC	0.597													T	75004711	G	T	75004711	3	4	364	1	0	0	0	0	1	0	0	0	9261	1174	41	4	1399	4	MAGEE2	23	75004711	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1309	75004711	80265849	15294	38796											
MAGEE1	57692	broad.mit.edu	37	chrX	75648782	75648782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacctagcacctccgtgccGcccaccgcctctgaggtacc	7	6	9	19	3	1	1	0	1	1	0	2	2	2	1	8	1	4	2	8	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75648782G>A	ENST00000361470.2	+	1	737	c.459G>A	c.(457-459)ccG>ccA	p.P153P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	153	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCCGTGCCGCCCACCGCCT	0.672													A	75648782	G	A	75648782	2	1	364	1	0	0	0	0	0	0	0	1	9260	1074	38	1		1	MAGEE1	23	75648782	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	644071	75648782	79621778	15295	38797											
MAGEE1	57692	broad.mit.edu	37	chrX	75649430	75649430	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactgagcacctctgtgccGcccaccgcctctgatggatc	6	8	11	16	2	2	2	0	2	2	0	3	4	2	4	5	2	2	1	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75649430G>A	ENST00000361470.2	+	1	1385	c.1107G>A	c.(1105-1107)ccG>ccA	p.P369P		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	369	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CCTCTGTGCCGCCCACCGCCT	0.672													A	75649430	G	A	75649430	2	1	364	1	0	0	0	0	0	0	0	1	9260	1074	38	1		1	MAGEE1	23	75649430	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648	75649430	79621130	15296	38798											
MAGEE1	57692	broad.mit.edu	37	chrX	75651070	75651070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctaagatgaaagccttgcGatatgtggccagaatccaca	13	9	9	10	1	1	3	0	1	1	2	2	4	2	3	3	1	2	0	3	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:75651070G>A	ENST00000361470.2	+	1	3025	c.2747G>A	c.(2746-2748)cGa>cAa	p.R916Q		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	916	Interaction with DTNA (By similarity).|MAGE 2.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAAGCCTTGCGATATGTGGCC	0.493													A	75651070	G	A	75651070	3	1	364	1	0	0	0	0	1	0	0	0	9260	1058	37	1	2749	1	MAGEE1	23	75651070	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1640	75651070	79619490	15297	38799											
FGF16	8823	broad.mit.edu	37	chrX	76711988	76711988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttctaagttgccctccatgtCcagagacctctttcactata	9	14	5	13	0	3	1	1	0	2	1	5	2	5	1	4	0	1	1	4	0	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76711988C>T	ENST00000439435.1	+	2	325	c.325C>T	c.(325-327)Cca>Tca	p.P109S				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						CCCTCCATGTCCAGAGACCTC	0.502													T	76711988	C	T	76711988	3	4	364	1	0	0	0	0	1	0	0	0	5893	855	30	2	332	2	FGF16	23	76711988	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1060918	76711988	78558572	15298	38800											
ATRX	546	broad.mit.edu	37	chrX	76776353	76776353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgtctacttaatgctaaCgcctgtacttgggcctctga	7	14	9	11	1	2	1	0	1	2	0	2	1	2	1	2	1	4	3	2	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776353C>T	ENST00000373344.5	-	34	7327	c.7113G>A	c.(7111-7113)gcG>gcA	p.A2371A	ATRX_ENST00000395603.3_Silent_p.A2333A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2371					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			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)	TTAATGCTAACGCCTGTACTT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76776353	C	T	76776353	2	4	364	1	0	0	0	0	0	0	0	1	1213	523	19	1		1	ATRX	23	76776353	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	64365	76776353	78494207	15299	38801											
ATRX	546	broad.mit.edu	37	chrX	76776885	76776885	+	Missense_Mutation	SNP	G	G	T																															ttgccaattagcttactacaGctgaaattatatcctcaaga																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776885G>T	ENST00000373344.5	-	33	7281	c.7067C>A	c.(7066-7068)gCt>gAt	p.A2356D	ATRX_ENST00000395603.3_Missense_Mutation_p.A2318D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2356					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			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)	GCTTACTACAGCTGAAATTAT	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76776885	G	T	76776885	3	4	364	1	0	0	0	0	1	0	0	0	1213	971	34	4	423	4	ATRX	23	76776885	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	532	76776885	78493675	15300	38802	121	2									
ATRX	546	broad.mit.edu	37	chrX	76776890	76776890	+	Silent	SNP	A	A	G																															aattagcttactacagctgaAattatatcctcaagaggttg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76776890A>G	ENST00000373344.5	-	33	7276	c.7062T>C	c.(7060-7062)atT>atC	p.I2354I	ATRX_ENST00000395603.3_Silent_p.I2316I|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2354					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			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)	CTACAGCTGAAATTATATCCT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76776890	A	G	76776890	2	3	364	1	0	0	0	0	0	0	0	1	1213	10	1	3		3	ATRX	23	76776890	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	5	76776890	78493670	15301	38803	121	2									
ATRX	546	broad.mit.edu	37	chrX	76875919	76875919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaataatcctcctccttgatCgtatagaattcatagcttta	13	15	4	9	1	1	2	1	1	0	1	5	2	4	2	3	0	1	2	3	0	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76875919C>T	ENST00000373344.5	-	20	5430	c.5216G>A	c.(5215-5217)cGa>cAa	p.R1739Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R1701Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding.				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)	CCTCCTTGATCGTATAGAATT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76875919	C	T	76875919	3	4	364	1	0	0	0	0	1	0	0	0	1213	884	31	1	2326	1	ATRX	23	76875919	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	99029	76875919	78394641	15302	38804											
ATRX	546	broad.mit.edu	37	chrX	76907780	76907780	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attttcatcttcctcctcctCttcctcctcctcctcctctt	2	19	0	20	0	4	0	1	0	3	0	12	0	12	0	8	0	0	0	8	0	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76907780C>T	ENST00000373344.5	-	15	4595	c.4381G>A	c.(4381-4383)Gag>Aag	p.E1461K	ATRX_ENST00000395603.3_Missense_Mutation_p.E1423K|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1461	Poly-Glu.				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)	tcctcctcctcttcctcctcc	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76907780	C	T	76907780	3	4	364	1	0	0	0	0	1	0	0	0	1213	922	32	2	3181	2	ATRX	23	76907780	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	31861	76907780	78362780	15303	38805											
ATRX	546	broad.mit.edu	37	chrX	76918942	76918942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttttcttctccagattctCcgtcactcacagtcaatttg	7	18	4	12	1	6	1	3	0	3	1	8	1	6	1	2	0	0	0	2	0	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76918942C>T	ENST00000373344.5	-	12	4263	c.4049G>A	c.(4048-4050)gGa>gAa	p.G1350E	ATRX_ENST00000395603.3_Missense_Mutation_p.G1312E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1350					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)	TCCAGATTCTCCGTCACTCAC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76918942	C	T	76918942	3	4	364	1	0	0	0	0	1	0	0	0	1213	855	30	2	3525	2	ATRX	23	76918942	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11162	76918942	78351618	15304	38806											
ATRX	546	broad.mit.edu	37	chrX	76939695	76939695	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttgccttcttaatcatCtctttgggcacaattagtgc	7	19	6	9	0	3	0	1	0	2	0	4	0	3	0	1	1	2	1	1	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:76939695C>A	ENST00000373344.5	-	9	1267	c.1053G>T	c.(1051-1053)gaG>gaT	p.E351D	ATRX_ENST00000395603.3_Missense_Mutation_p.E313D|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					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)	TCTTAATCATCTCTTTGGGCA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939695	C	A	76939695	3	1	364	1	0	0	0	0	1	0	0	0	1213	912	32	4	6533	4	ATRX	23	76939695	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20753	76939695	78330865	15305	38807											
PGAM4	441531	broad.mit.edu	37	chrX	77224501	77224501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagacgatgggaataccaGtcggcaggttcagctccatg	11	8	12	10	2	1	1	1	0	0	1	3	3	2	2	2	3	2	3	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77224501G>T	ENST00000458128.1	-	1	634	c.635C>A	c.(634-636)aCt>aAt	p.T212N	ATP7A_ENST00000343533.5_Intron|ATP7A_ENST00000341514.6_Intron|ATP7A_ENST00000350425.4_Intron	NM_001029891.2	NP_001025062.1	Q8N0Y7	PGAM4_HUMAN	phosphoglycerate mutase family member 4	212					glycolysis		2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity|phosphoglycerate mutase activity			endometrium(2)|lung(4)	6						GGGAATACCAGTCGGCAGGTT	0.512													T	77224501	G	T	77224501	3	4	364	1	0	0	0	0	1	0	0	0	11852	1029	36	4	133	4	PGAM4	23	77224501	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	284806	77224501	78046059	15306	38808											
ATP7A	538	broad.mit.edu	37	chrX	77244936	77244936	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagcaaaggagtccatcatAtaccaatgattcaacagcca	17	7	6	11	0	2	1	2	1	0	0	3	2	3	2	3	1	4	1	3	1	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77244936A>G	ENST00000341514.6	+	4	973	c.818A>G	c.(817-819)tAt>tGt	p.Y273C	ATP7A_ENST00000343533.5_Missense_Mutation_p.Y273C|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	273					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGTCCATCATATACCAATGAT	0.393													G	77244936	A	G	77244936	3	3	364	1	0	0	0	0	1	0	0	0	1195	449	16	3	828	3	ATP7A	23	77244936	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20435	77244936	78025624	15307	38809											
ATP7A	538	broad.mit.edu	37	chrX	77254148	77254148	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacttgcgcttcctgtgtaGcaaacattgaacggaattta	11	13	9	8	2	0	2	0	2	0	0	1	3	1	3	1	1	4	3	1	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77254148G>T	ENST00000341514.6	+	5	1665	c.1510G>T	c.(1510-1512)Gca>Tca	p.A504S	ATP7A_ENST00000343533.5_Missense_Mutation_p.A504S|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	504	HMA 5.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTCCTGTGTAGCAAACATTGA	0.408													T	77254148	G	T	77254148	3	4	364	1	0	0	0	0	1	0	0	0	1195	971	34	4	1524	4	ATP7A	23	77254148	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	9212	77254148	78016412	15308	38810											
ATP7A	538	broad.mit.edu	37	chrX	77266736	77266736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtcacttagatcataaaCgagaaataagacagtaagta	20	8	7	6	1	2	3	2	0	0	3	2	4	2	3	0	0	1	2	0	0	8	5	rs72554640		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77266736C>T	ENST00000341514.6	+	8	2088	c.1933C>T	c.(1933-1935)Cga>Tga	p.R645*	ATP7A_ENST00000343533.5_Nonsense_Mutation_p.R645*|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	645					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AGATCATAAACGAGAAATAAG	0.313													T	77266736	C	T	77266736	4	4	364	1	0	0	0	0	0	1	0	0	1195	528	19	1	1959	1	ATP7A	23	77266736	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12588	77266736	78003824	15309	38811											
ATP7A	538	broad.mit.edu	37	chrX	77267082	77267082	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaagaagaaatgatcaacCttcattcttctatgttcctg	13	14	6	8	0	4	3	2	1	2	2	5	3	5	3	2	0	1	2	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77267082C>A	ENST00000341514.6	+	9	2238	c.2083C>A	c.(2083-2085)Ctt>Att	p.L695I	ATP7A_ENST00000343533.5_Missense_Mutation_p.L695I|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	695					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AATGATCAACCTTCATTCTTC	0.383													A	77267082	C	A	77267082	3	1	364	1	0	0	0	0	1	0	0	0	1195	681	24	4	2113	4	ATP7A	23	77267082	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	346	77267082	78003478	15310	38812											
ATP7A	538	broad.mit.edu	37	chrX	77294367	77294367	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagcagtataaagtcctcaTtggtaaccgggagtggatga	12	10	12	7	1	2	1	2	1	0	0	3	3	3	3	2	3	2	3	2	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77294367T>G	ENST00000341514.6	+	18	3700	c.3545T>G	c.(3544-3546)aTt>aGt	p.I1182S	ATP7A_ENST00000343533.5_Missense_Mutation_p.I1104S|ATP7A_ENST00000350425.4_Missense_Mutation_p.I185S	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1182					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						AAAGTCCTCATTGGTAACCGG	0.358													G	77294367	T	G	77294367	3	3	364	1	0	0	0	0	1	0	0	0	1195	1493	52	5	3611	5	ATP7A	23	77294367	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	27285	77294367	77976193	15311	38813											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528525	77528525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactgactaaaaaggcaGcggtcacgaccatgatcatt	15	8	9	9	2	2	3	2	3	0	0	2	4	2	3	1	2	2	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77528525G>A	ENST00000373304.3	-	3	1011	c.719C>T	c.(718-720)gCt>gTt	p.A240V		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	240					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	TAAAAAGGCAGCGGTCACGAC	0.343													A	77528525	G	A	77528525	3	1	364	1	0	0	0	0	1	0	0	0	4234	971	34	2	298	2	CYSLTR1	23	77528525	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	234158	77528525	77742035	15312	38814											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913581	77913581	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaggcgccagggactCtggggctgctggggcctcct	3	8	18	12	1	1	0	0	0	1	0	2	2	2	2	3	7	2	3	3	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:77913581C>A	ENST00000321110.1	-	2	632	c.337G>T	c.(337-339)Gag>Tag	p.E113*		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	113	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						GCCAGGGACTCTGGGGCTGCT	0.637													A	77913581	C	A	77913581	4	1	364	1	0	0	0	0	0	1	0	0	17692	922	32	4	1094	4	ZCCHC5	23	77913581	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	385056	77913581	77356979	15313	38815											
LPAR4	2846	broad.mit.edu	37	chrX	78010459	78010459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctactgccaataatacttgCattgttgatgattccttcaa	11	15	6	9	0	1	2	1	2	0	0	2	2	2	2	2	0	4	3	2	0	5	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78010459C>T	ENST00000435339.3	+	2	479	c.93C>T	c.(91-93)tgC>tgT	p.C31C		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						ATAATACTTGCATTGTTGATG	0.403													T	78010459	C	T	78010459	2	4	364	1	0	0	0	0	0	0	0	1	8977	718	25	2		2	LPAR4	23	78010459	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	96878	78010459	77260101	15314	38816											
ITM2A	9452	broad.mit.edu	37	chrX	78619024	78619024	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcccagaggagccctCtttttcctgggtggcaactc	7	11	9	14	0	2	1	0	0	2	1	5	2	3	2	3	3	2	1	3	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:78619024C>A	ENST00000373298.2	-	2	282	c.139G>T	c.(139-141)Gag>Tag	p.E47*	ITM2A_ENST00000434584.2_Intron|ITM2A_ENST00000469541.1_5'UTR	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	47						integral to membrane	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						GAGGAGCCCTCTTTTTCCTGG	0.408													A	78619024	C	A	78619024	4	1	364	1	0	0	0	0	0	1	0	0	7970	922	32	4	672	4	ITM2A	23	78619024	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	608565	78619024	76651536	15315	38817											
FAM46D	169966	broad.mit.edu	37	chrX	79699143	79699143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctatttatgtaatacctgagCcaccccccgttagcttccag	9	12	6	14	1	0	1	0	1	0	0	1	1	1	1	6	0	3	3	6	0	5	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79699143C>T	ENST00000538312.1	+	5	1439	c.1105C>T	c.(1105-1107)Cca>Tca	p.P369S	FAM46D_ENST00000308293.5_Missense_Mutation_p.P369S	NM_001170574.1	NP_001164045.1	Q8NEK8	FA46D_HUMAN	family with sequence similarity 46, member D	369										kidney(1)|large_intestine(6)|liver(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	23						AATACCTGAGCCACCCCCCGT	0.413													T	79699143	C	T	79699143	3	4	364	1	0	0	0	0	1	0	0	0	5619	739	26	2	1107	2	FAM46D	23	79699143	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1080119	79699143	75571417	15316	38818											
BRWD3	254065	broad.mit.edu	37	chrX	79932200	79932200	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtaccaagattcagaggatCctcagtggacacaaaattgt	14	10	9	8	0	2	2	2	0	0	2	3	4	3	4	2	2	1	1	2	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932200C>A	ENST00000373275.4	-	41	5533	c.5317G>T	c.(5317-5319)Gat>Tat	p.D1773Y		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1773										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TTCAGAGGATCCTCAGTGGAC	0.393													A	79932200	C	A	79932200	3	1	364	1	0	0	0	0	1	0	0	0	1535	855	30	4	95	4	BRWD3	23	79932200	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	233057	79932200	75338360	15317	38819											
BRWD3	254065	broad.mit.edu	37	chrX	79932253	79932253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcattatataaaacagtcCtcctgccttggtttcttgtt	9	17	5	10	0	2	0	1	0	1	0	4	0	4	0	3	1	2	2	3	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79932253C>A	ENST00000373275.4	-	41	5480	c.5264G>T	c.(5263-5265)aGg>aTg	p.R1755M		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1755										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TAAAACAGTCCTCCTGCCTTG	0.403													A	79932253	C	A	79932253	3	1	364	1	0	0	0	0	1	0	0	0	1535	681	24	4	148	4	BRWD3	23	79932253	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53	79932253	75338307	15318	38820											
BRWD3	254065	broad.mit.edu	37	chrX	79973207	79973207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatttgactactatgtcttCgaagcctgatgtttggggaa	10	14	10	7	1	1	2	0	2	1	0	2	4	1	3	1	2	2	1	1	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:79973207C>T	ENST00000373275.4	-	19	2312	c.2096G>A	c.(2095-2097)cGa>cAa	p.R699Q	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	699										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ACTATGTCTTCGAAGCCTGAT	0.423													T	79973207	C	T	79973207	3	4	364	1	0	0	0	0	1	0	0	0	1535	884	31	1	3404	1	BRWD3	23	79973207	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40954	79973207	75297353	15319	38821											
POU3F4	5456	broad.mit.edu	37	chrX	82763427	82763427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaggggagtcctttccGcaaccctcagaaacttctcc	9	8	9	15	1	2	1	1	0	1	1	5	2	4	2	4	2	3	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763427G>A	ENST00000373200.2	+	1	159	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	32					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						AGTCCTTTCCGCAACCCTCAG	0.597													A	82763427	G	A	82763427	3	1	364	1	0	0	0	0	1	0	0	0	12354	1087	38	1	97	1	POU3F4	23	82763427	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2790220	82763427	72507133	15320	38822											
POU3F4	5456	broad.mit.edu	37	chrX	82763476	82763476	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacttgcagggagttcccagCaatgggcatcccctcgggca	8	8	12	13	1	0	0	0	0	0	0	3	1	2	1	3	3	3	5	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:82763476C>T	ENST00000373200.2	+	1	208	c.144C>T	c.(142-144)agC>agT	p.S48S	RP3-326L13.2_ENST00000607095.1_RNA	NM_000307.3	NP_000298	P49335	PO3F4_HUMAN	POU class 3 homeobox 4	48					sensory perception of sound	nucleus	sequence-specific DNA binding transcription factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	37						GAGTTCCCAGCAATGGGCATC	0.622													T	82763476	C	T	82763476	2	4	364	1	0	0	0	0	0	0	0	1	12354	709	25	2		2	POU3F4	23	82763476	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	49	82763476	72507084	15321	38823											
HDX	139324	broad.mit.edu	37	chrX	83723698	83723698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttggcatatttcttcctgGtccgggcaaggttgtacttt	6	17	10	8	1	1	0	0	0	1	0	3	0	3	0	2	4	1	4	2	4	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83723698G>A	ENST00000297977.5	-	3	1144	c.1033C>T	c.(1033-1035)Cca>Tca	p.P345S	HDX_ENST00000373177.2_Missense_Mutation_p.P345S|HDX_ENST00000506585.2_Missense_Mutation_p.P287S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	345						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTTCTTCCTGGTCCGGGCAAG	0.428													A	83723698	G	A	83723698	3	1	364	1	0	0	0	0	1	0	0	0	7081	1261	44	2	1071	2	HDX	23	83723698	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	960222	83723698	71546862	15322	38824											
HDX	139324	broad.mit.edu	37	chrX	83724245	83724245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagtagggaagcatttttAcagtgtgctacttgtctttg	9	15	12	5	0	1	0	0	0	1	0	1	2	1	2	0	2	4	3	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:83724245A>G	ENST00000297977.5	-	3	597	c.486T>C	c.(484-486)tgT>tgC	p.C162C	HDX_ENST00000373177.2_Silent_p.C162C|HDX_ENST00000506585.2_Silent_p.C104C	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	162						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AAGCATTTTTACAGTGTGCTA	0.353													G	83724245	A	G	83724245	2	3	364	1	0	0	0	0	0	0	0	1	7081	389	14	3		3	HDX	23	83724245	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	547	83724245	71546315	15323	38825											
SATL1	340562	broad.mit.edu	37	chrX	84349941	84349941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgatggtttttgttgatcGtttacttctgcaatcaggca	7	17	9	8	1	2	2	1	2	1	0	3	2	2	2	1	2	2	5	1	2	2	6	rs141349825	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84349941G>A	ENST00000509231.1	-	3	1834	c.1755C>T	c.(1753-1755)aaC>aaT	p.N585N	SATL1_ENST00000395409.3_Silent_p.N398N|SATL1_ENST00000332921.5_Silent_p.N398N			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	398							N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TTTGTTGATCGTTTACTTCTG	0.348													A	84349941	G	A	84349941	2	1	364	1	0	0	0	0	0	0	0	1	13947	1136	40	1		1	SATL1	23	84349941	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	625696	84349941	70920619	15324	38826											
SATL1	340562	broad.mit.edu	37	chrX	84363608	84363608	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcctatttgcctcatgcGtgattggctggggcctgatt	4	14	13	10	2	1	2	1	2	0	0	1	2	1	2	3	3	3	1	3	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84363608G>A	ENST00000395409.3	-	0	366				SATL1_ENST00000509231.1_Missense_Mutation_p.R123C|SATL1_ENST00000332921.5_De_novo_Start_OutOfFrame			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1								N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						TGCCTCATGCGTGATTGGCTG	0.542											OREG0019887	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	84363608	G	A	84363608	1	1	364	1	0	0	0	0	0	0	0	0	13947	1145	40	1		1	SATL1	23	84363608	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13667	84363608	70906952	15325	38827											
ZNF711	7552	broad.mit.edu	37	chrX	84520139	84520139	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggtggaacagaaattgTcacagagagtgagtacacca	16	8	11	6	0	1	3	1	1	0	2	1	5	1	4	1	2	2	1	1	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:84520139T>A	ENST00000360700.4	+	6	1680	c.794T>A	c.(793-795)gTc>gAc	p.V265D	ZNF711_ENST00000395402.1_Missense_Mutation_p.V243D|ZNF711_ENST00000542798.1_Missense_Mutation_p.V61D|ZNF711_ENST00000373165.3_Missense_Mutation_p.V265D|ZNF711_ENST00000276123.3_Missense_Mutation_p.V265D			Q9Y462	ZN711_HUMAN	zinc finger protein 711	265				IVT -> MSP (in Ref. 4; CAA39837).	positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						ACAGAAATTGTCACAGAGAGT	0.368													A	84520139	T	A	84520139	3	1	364	1	0	0	0	0	1	0	0	0	18217	1667	58	5	808	5	ZNF711	23	84520139	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	156531	84520139	70750421	15326	38828											
CHM	1121	broad.mit.edu	37	chrX	85218762	85218762	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgctctgtggtatcttCtgctataggcacattttcac	6	17	9	9	0	4	0	1	0	3	0	4	0	4	0	0	3	2	5	0	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85218762C>A	ENST00000357749.2	-	5	639	c.610G>T	c.(610-612)Gaa>Taa	p.E204*	CHM_ENST00000537751.1_Nonsense_Mutation_p.E56*|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	204					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTGGTATCTTCTGCTATAGGC	0.358													A	85218762	C	A	85218762	4	1	364	1	0	0	0	0	0	1	0	0	3380	922	32	4	1395	4	CHM	23	85218762	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	698623	85218762	70051798	15327	38829											
DACH2	117154	broad.mit.edu	37	chrX	85403938	85403938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcaagcacctggtgggagGcttgcacactgtgtacacca	9	9	11	12	0	1	0	1	0	1	0	2	1	1	1	2	3	3	4	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85403938G>A	ENST00000373131.1	+	1	477	c.314G>A	c.(313-315)gGc>gAc	p.G105D	DACH2_ENST00000373125.4_Missense_Mutation_p.G105D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	105	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CTGGTGGGAGGCTTGCACACT	0.572													A	85403938	G	A	85403938	3	1	364	1	0	0	0	0	1	0	0	0	4255	1203	42	2	316	2	DACH2	23	85403938	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	185176	85403938	69866622	15328	38830											
DACH2	117154	broad.mit.edu	37	chrX	85769296	85769296	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacagttcaagacccggcaGgccccctaagcgttctttgg	9	8	10	14	2	2	1	1	0	1	1	2	1	2	1	3	3	2	3	3	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:85769296G>T	ENST00000373131.1	+	2	666	c.503G>T	c.(502-504)aGg>aTg	p.R168M	DACH2_ENST00000373125.4_Missense_Mutation_p.R181M|DACH2_ENST00000508860.1_Missense_Mutation_p.R14M|DACH2_ENST00000510272.1_5'UTR	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						AGACCCGGCAGGCCCCCTAAG	0.438													T	85769296	G	T	85769296	3	4	364	1	0	0	0	0	1	0	0	0	4255	1000	35	4	552	4	DACH2	23	85769296	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	365358	85769296	69501264	15329	38831											
KLHL4	56062	broad.mit.edu	37	chrX	86890607	86890607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaagttcctgcctcaaatCaatggaatactttgacccac	12	11	7	11	0	2	1	2	1	0	0	3	3	3	3	3	2	2	1	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:86890607C>T	ENST00000373119.4	+	9	1902	c.1757C>T	c.(1756-1758)tCa>tTa	p.S586L	KLHL4_ENST00000373114.4_Missense_Mutation_p.S586L	NM_019117.4	NP_061990.2	Q9C0H6	KLHL4_HUMAN	kelch-like family member 4	586						cytoplasm|microtubule cytoskeleton|nucleolus	actin binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(29)|ovary(2)|prostate(1)|skin(1)	67						TGCCTCAAATCAATGGAATAC	0.398													T	86890607	C	T	86890607	3	4	364	1	0	0	0	0	1	0	0	0	8449	838	29	2	1791	2	KLHL4	23	86890607	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1121311	86890607	68379953	15330	38832											
PABPC5	140886	broad.mit.edu	37	chrX	90691273	90691273	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgttaaagtaataagaGatgccagtgggaaatctaaa	18	9	11	3	0	1	2	0	0	1	2	1	4	1	3	1	1	1	2	1	1	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:90691273G>T	ENST00000312600.3	+	2	911	c.697G>T	c.(697-699)Gat>Tat	p.D233Y	PABPC5_ENST00000373105.1_Missense_Mutation_p.D69Y	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	233	RRM 3.					cytoplasm	nucleotide binding|RNA binding			central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						AGTAATAAGAGATGCCAGTGG	0.418													T	90691273	G	T	90691273	3	4	364	1	0	0	0	0	1	0	0	0	11443	942	33	4	699	4	PABPC5	23	90691273	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3800666	90691273	64579287	15331	38833											
PCDH11X	27328	broad.mit.edu	37	chrX	91090698	91090698	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgctatgcagttcaagctAgtgtacaagaccggagatgt	12	10	11	8	1	1	2	1	0	0	2	1	3	1	2	1	1	4	5	1	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91090698A>G	ENST00000373094.1	+	1	1040	c.195A>G	c.(193-195)ctA>ctG	p.L65L	PCDH11X_ENST00000361724.1_Silent_p.L65L|PCDH11X_ENST00000373097.1_Silent_p.L65L|PCDH11X_ENST00000361655.2_Silent_p.L65L|PCDH11X_ENST00000373088.1_Silent_p.L65L|PCDH11X_ENST00000298274.8_Silent_p.L65L|PCDH11X_ENST00000395337.2_Silent_p.L65L|PCDH11X_ENST00000504220.2_Silent_p.L65L|PCDH11X_ENST00000406881.1_Silent_p.L65L	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	65	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						AGTTCAAGCTAGTGTACAAGA	0.448													G	91090698	A	G	91090698	2	3	364	1	0	0	0	0	0	0	0	1	11584	407	15	3		3	PCDH11X	23	91090698	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	399425	91090698	64179862	15332	38834											
PCDH11X	27328	broad.mit.edu	37	chrX	91132650	91132650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttttcacccagtctttcGtaactgtttctattcctgag	7	17	6	11	1	3	1	1	1	2	0	5	1	4	1	2	0	1	3	2	0	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91132650G>A	ENST00000373094.1	+	2	2256	c.1411G>A	c.(1411-1413)Gta>Ata	p.V471I	PCDH11X_ENST00000361724.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V471I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V471I|PCDH11X_ENST00000395337.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V471I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V471I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	471	Cadherin 5.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CCAGTCTTTCGTAACTGTTTC	0.433													A	91132650	G	A	91132650	3	1	364	1	0	0	0	0	1	0	0	0	11584	1145	40	1	1417	1	PCDH11X	23	91132650	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	41952	91132650	64137910	15333	38835											
PCDH11X	27328	broad.mit.edu	37	chrX	91134164	91134164	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataacacctttgtggcctgTgactctatctccaagtgttc	8	14	8	11	0	2	1	0	1	2	0	4	2	2	1	3	1	1	1	3	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91134164T>C	ENST00000373094.1	+	2	3770	c.2925T>C	c.(2923-2925)tgT>tgC	p.C975C	PCDH11X_ENST00000361724.1_Silent_p.C975C|PCDH11X_ENST00000373097.1_Silent_p.C975C|PCDH11X_ENST00000361655.2_Silent_p.C975C|PCDH11X_ENST00000373088.1_Silent_p.C975C|PCDH11X_ENST00000298274.8_Silent_p.C975C|PCDH11X_ENST00000395337.2_Silent_p.C975C|PCDH11X_ENST00000504220.2_Silent_p.C975C|PCDH11X_ENST00000406881.1_Silent_p.C975C	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	975					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TTGTGGCCTGTGACTCTATCT	0.512													C	91134164	T	C	91134164	2	2	364	1	0	0	0	0	0	0	0	1	11584	1702	59	3		3	PCDH11X	23	91134164	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1514	91134164	64136396	15334	38836											
PCDH11X	27328	broad.mit.edu	37	chrX	91675536	91675536	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctttatccttcatcccAaggagggtttttaatggata	9	17	7	8	0	2	0	1	0	1	0	4	2	4	2	2	3	0	1	2	3	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:91675536A>G	ENST00000298274.8	+	4	3243	c.3243A>G	c.(3241-3243)ccA>ccG	p.P1081P	PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373094.1_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000406881.1_Intron			Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1118					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ccttcatcccaaggagggttt	0.348													G	91675536	A	G	91675536	2	3	364	1	0	0	0	0	0	0	0	1	11584	145	5	3		3	PCDH11X	23	91675536	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	541372	91675536	63595024	15335	38837											
NAP1L3	4675	broad.mit.edu	37	chrX	92927767	92927767	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcatttcactaggggtgttAtcctgcacctcctcatcact	7	13	8	13	0	3	0	3	0	0	0	5	0	5	0	3	3	1	3	3	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:92927767A>G	ENST00000373079.3	-	1	800	c.537T>C	c.(535-537)gaT>gaC	p.D179D	NAP1L3_ENST00000475430.2_Silent_p.D172D	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	179	Glu-rich.				nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TAGGGGTGTTATCCTGCACCT	0.448													G	92927767	A	G	92927767	2	3	364	1	0	0	0	0	0	0	0	1	10234	446	16	3		3	NAP1L3	23	92927767	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1252231	92927767	62342793	15336	38838											
PCDH19	57526	broad.mit.edu	37	chrX	99551661	99551661	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgggtggtcgctgacatCtttcccaaaggttgcgaaag	9	9	13	10	3	1	1	0	1	1	0	3	2	2	1	2	3	2	2	2	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99551661C>A	ENST00000373034.4	-	6	4736	c.3061G>T	c.(3061-3063)Gat>Tat	p.D1021Y	PCDH19_ENST00000255531.7_Missense_Mutation_p.D974Y|PCDH19_ENST00000420881.2_Missense_Mutation_p.D973Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1021					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TCGCTGACATCTTTCCCAAAG	0.562													A	99551661	C	A	99551661	3	1	364	1	0	0	0	0	1	0	0	0	11590	913	32	4	389	4	PCDH19	23	99551661	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6623894	99551661	55718899	15337	38839											
TNMD	64102	broad.mit.edu	37	chrX	99848938	99848938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaatggagagaagaagaAgatttacatggaaattgatc	18	8	11	4	0	0	5	0	1	0	4	1	8	0	7	0	2	2	1	0	2	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99848938A>G	ENST00000373031.4	+	3	444	c.227A>G	c.(226-228)aAg>aGg	p.K76R	TNMD_ENST00000485971.1_3'UTR	NM_022144.2	NP_071427.2	Q9H2S6	TNMD_HUMAN	tenomodulin	76						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(7)|skin(1)	16						GAGAAGAAGAAGATTTACATG	0.408													G	99848938	A	G	99848938	3	3	364	1	0	0	0	0	1	0	0	0	16422	72	3	3	237	3	TNMD	23	99848938	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	297277	99848938	55421622	15338	38840											
TSPAN6	7105	broad.mit.edu	37	chrX	99887565	99887565	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcacctttataaaacaacCctaatgggaggaaaaaaaca	20	7	5	9	0	1	0	1	0	0	0	1	2	1	2	2	2	3	0	2	2	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99887565C>A	ENST00000373020.4	-	6	697	c.586G>T	c.(586-588)Ggt>Tgt	p.G196C	TSPAN6_ENST00000496771.1_5'UTR	NM_001278740.1|NM_001278741.1|NM_003270.2	NP_001265669.1|NP_001265670.1|NP_003261.1	O43657	TSN6_HUMAN	tetraspanin 6	196					positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|ovary(1)	12						ATAAAACAACCCTAATGGGAG	0.353													A	99887565	C	A	99887565	5	1	364	1	0	0	0	0	0	0	1	0	16752	637	22	4	159	4	TSPAN6	23	99887565	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38627	99887565	55382995	15339	38841											
SRPX2	27286	broad.mit.edu	37	chrX	99901318	99901318	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccataatcctccctttcaaGgatggccagtcagctaactc	10	11	6	14	0	2	0	2	0	0	0	6	1	5	1	4	2	2	1	4	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99901318G>T	ENST00000481988.1	+	2	295		c.e2-1		SRPX2_ENST00000373004.3_5'UTR			O60687	SRPX2_HUMAN	sushi-repeat containing protein, X-linked 2						angiogenesis|cell motility|cell-cell adhesion|positive regulation of cell migration involved in sprouting angiogenesis|regulation of phosphorylation	cytoplasm|extracellular region	receptor binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)	19						TCCCTTTCAAGGATGGCCAGT	0.453													T	99901318	G	T	99901318	5	4	364	1	0	0	0	0	0	0	1	0	15261	1015	35	4	1	4	SRPX2	23	99901318	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13753	99901318	55369242	15340	38842											
SYTL4	94121	broad.mit.edu	37	chrX	99941132	99941132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctctgggccaggagaGattctgggatctcatactgt	7	11	14	9	0	3	1	1	0	3	1	5	4	4	3	2	4	1	0	2	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:99941132G>T	ENST00000455616.1	-	14	1650	c.1304C>A	c.(1303-1305)tCt>tAt	p.S435Y	SYTL4_ENST00000276141.6_Missense_Mutation_p.S435Y|SYTL4_ENST00000372981.1_3'UTR|SYTL4_ENST00000454200.2_Missense_Mutation_p.S437Y|SYTL4_ENST00000263033.5_Missense_Mutation_p.S435Y|SYTL4_ENST00000372989.1_Missense_Mutation_p.S435Y			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	435	C2 1.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGCCAGGAGAGATTCTGGGAT	0.458													T	99941132	G	T	99941132	3	4	364	1	0	0	0	0	1	0	0	0	15582	942	33	4	731	4	SYTL4	23	99941132	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	39814	99941132	55329428	15341	38843											
CSTF2	1478	broad.mit.edu	37	chrX	100081697	100081697	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagttccagcaccagggcaAatgccagctgctgtcacagg	10	6	13	12	0	1	0	1	0	0	0	2	1	2	1	3	3	4	5	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100081697A>T	ENST00000415585.2	+	7	799	c.777A>T	c.(775-777)caA>caT	p.Q259H	CSTF2_ENST00000372972.2_Missense_Mutation_p.Q259H			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	259	Gly/Pro-rich.				mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						CACCAGGGCAAATGCCAGCTG	0.483													T	100081697	A	T	100081697	3	4	364	1	0	0	0	0	1	0	0	0	4017	11	1	5	803	5	CSTF2	23	100081697	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	140565	100081697	55188863	15342	38844											
NOX1	27035	broad.mit.edu	37	chrX	100104859	100104859	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaattcctgctccaaccaGcacagccacttcatactgga	11	8	5	17	0	1	0	1	0	0	0	3	1	3	1	5	1	5	2	5	1	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100104859G>A	ENST00000372966.3	-	10	1403	c.1198C>T	c.(1198-1200)Ctg>Ttg	p.L400L	NOX1_ENST00000372960.4_Silent_p.L363L|NOX1_ENST00000217885.5_Silent_p.L400L|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	400	Interaction with NOXO1.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						GCTCCAACCAGCACAGCCACT	0.478													A	100104859	G	A	100104859	2	1	364	1	0	0	0	0	0	0	0	1	10632	962	34	2		2	NOX1	23	100104859	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23162	100104859	55165701	15343	38845											
NOX1	27035	broad.mit.edu	37	chrX	100105197	100105197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagattttctgtccagtccCctgctgctcggatatgaatg	7	14	10	10	1	1	2	0	2	1	1	4	4	3	3	3	1	2	2	3	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100105197C>T	ENST00000372966.3	-	9	1281	c.1076G>A	c.(1075-1077)gGg>gAg	p.G359E	NOX1_ENST00000372960.4_Missense_Mutation_p.G322E|NOX1_ENST00000217885.5_Missense_Mutation_p.G359E|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	359	FAD-binding FR-type.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						TGTCCAGTCCCCTGCTGCTCG	0.473													T	100105197	C	T	100105197	3	4	364	1	0	0	0	0	1	0	0	0	10632	623	22	2	638	2	NOX1	23	100105197	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	338	100105197	55165363	15344	38846											
NOX1	27035	broad.mit.edu	37	chrX	100117425	100117425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatatagaagataaaaagGtggtgagtataccagaagac	19	7	12	3	0	0	5	0	1	0	4	0	6	0	6	1	3	1	1	1	3	9	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100117425G>A	ENST00000372966.3	-	6	832	c.627C>T	c.(625-627)caC>caT	p.H209H	NOX1_ENST00000372960.4_Silent_p.H172H|NOX1_ENST00000217885.5_Silent_p.H209H|NOX1_ENST00000372964.1_Intron	NM_007052.4|NM_013955.2	NP_008983.2|NP_039249.1	Q9Y5S8	NOX1_HUMAN	NADPH oxidase 1	209	Ferric oxidoreductase.				angiogenesis|cell migration|electron transport chain|FADH2 metabolic process|hydrogen peroxide metabolic process|inflammatory response|intracellular pH elevation|positive regulation of integrin biosynthetic process|positive regulation of smooth muscle cell proliferation|positive regulation vascular endothelial growth factor production|respiratory burst|response to pH|signal transduction|superoxide anion generation	cell junction|early endosome|invadopodium membrane|NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|Rac GTPase binding|superoxide-generating NADPH oxidase activity|voltage-gated proton channel activity			cervix(1)|lung(3)|ovary(1)|skin(2)	7						AGATAAAAAGGTGGTGAGTAT	0.443													A	100117425	G	A	100117425	2	1	364	1	0	0	0	0	0	0	0	1	10632	1252	44	2		2	NOX1	23	100117425	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12228	100117425	55153135	15345	38847											
XKRX	402415	broad.mit.edu	37	chrX	100169500	100169500	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatgaagccaatggaaaTcagataagcaataatgagct	18	7	10	6	0	1	3	1	2	0	1	1	5	1	4	1	1	4	3	1	1	6	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100169500T>A	ENST00000328526.5	-	3	1781	c.1216A>T	c.(1216-1218)Att>Ttt	p.I406F	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.I393F	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	393						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						CCAATGGAAATCAGATAAGCA	0.408													A	100169500	T	A	100169500	3	1	364	1	0	0	0	0	1	0	0	0	17541	1435	50	5	176	5	XKRX	23	100169500	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	52075	100169500	55101060	15346	38848											
XKRX	402415	broad.mit.edu	37	chrX	100183177	100183177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtacaaaaaggtggaGaaaaggatgctaaatggaaa	20	5	11	5	0	0	1	0	0	0	1	0	4	0	3	1	4	2	2	1	4	8	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100183177G>T	ENST00000328526.5	-	1	721	c.156C>A	c.(154-156)ttC>ttA	p.F52L	XKRX_ENST00000468904.1_Missense_Mutation_p.F39L|XKRX_ENST00000372956.2_Missense_Mutation_p.F39L	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	39						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						AAAAGGTGGAGAAAAGGATGC	0.433													T	100183177	G	T	100183177	3	4	364	1	0	0	0	0	1	0	0	0	17541	933	33	4	1244	4	XKRX	23	100183177	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13677	100183177	55087383	15347	38849											
TRMT2B	79979	broad.mit.edu	37	chrX	100274325	100274325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaattgactgtccatcttcCtttgactttagcagccctgg	8	14	7	12	0	1	2	0	2	1	0	3	2	3	2	3	1	2	1	3	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100274325C>A	ENST00000338687.7	-	11	1906	c.1101G>T	c.(1099-1101)aaG>aaT	p.K367N	TRMT2B_ENST00000372936.3_Missense_Mutation_p.K412N|TRMT2B_ENST00000372939.1_Missense_Mutation_p.K367N|TRMT2B_ENST00000372935.1_Missense_Mutation_p.K412N|TRMT2B_ENST00000372931.5_Missense_Mutation_p.K412N|TRMT2B_ENST00000545398.1_Missense_Mutation_p.K412N			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	412							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						GTCCATCTTCCTTTGACTTTA	0.468													A	100274325	C	A	100274325	3	1	364	1	0	0	0	0	1	0	0	0	16667	680	24	4	290	4	TRMT2B	23	100274325	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	91148	100274325	54996235	15348	38850											
TRMT2B	79979	broad.mit.edu	37	chrX	100276145	100276145	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagttcactccagtcagctcCcccacagtccgatacagcat	10	8	7	16	1	2	0	2	0	0	0	5	2	5	0	4	0	3	3	4	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100276145C>T	ENST00000338687.7	-	9	1681	c.876G>A	c.(874-876)ggG>ggA	p.G292G	TRMT2B_ENST00000372936.3_Silent_p.G337G|TRMT2B_ENST00000372939.1_Silent_p.G292G|TRMT2B_ENST00000372935.1_Silent_p.G337G|TRMT2B_ENST00000372931.5_Silent_p.G337G|TRMT2B_ENST00000545398.1_Silent_p.G337G			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	337							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CAGTCAGCTCCCCCACAGTCC	0.512													T	100276145	C	T	100276145	2	4	364	1	0	0	0	0	0	0	0	1	16667	610	22	2		2	TRMT2B	23	100276145	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1820	100276145	54994415	15349	38851											
CENPI	2491	broad.mit.edu	37	chrX	100356228	100356228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgggagattatgaacatGctgatgatcaagctgaagaa	15	9	12	5	0	1	6	1	4	0	2	1	7	1	6	0	1	3	2	0	1	5	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100356228G>A	ENST00000372927.1	+	2	446	c.169G>A	c.(169-171)Gct>Act	p.A57T	CENPI_ENST00000218507.5_Missense_Mutation_p.A57T|CENPI_ENST00000372926.1_Missense_Mutation_p.A57T|CENPI_ENST00000423383.1_Missense_Mutation_p.A57T	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	57					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						TTATGAACATGCTGATGATCA	0.398													A	100356228	G	A	100356228	3	1	364	1	0	0	0	0	1	0	0	0	3263	1319	46	2	171	2	CENPI	23	100356228	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	80083	100356228	54914332	15350	38852											
DRP2	1821	broad.mit.edu	37	chrX	100486730	100486730	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcatagcagcagcctcCgaagcacctgcccccaccct	9	6	6	20	1	1	0	1	0	0	0	3	1	3	0	7	0	5	3	7	0	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100486730C>T	ENST00000395209.3	+	3	621	c.94C>T	c.(94-96)Cga>Tga	p.R32*	DRP2_ENST00000541709.1_Intron|DRP2_ENST00000538510.1_Nonsense_Mutation_p.R32*|DRP2_ENST00000402866.1_Nonsense_Mutation_p.R32*	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	32					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CAGCAGCCTCCGAAGCACCTG	0.542													T	100486730	C	T	100486730	4	4	364	1	0	0	0	0	0	1	0	0	4803	644	23	1	96	1	DRP2	23	100486730	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	130502	100486730	54783830	15351	38853											
DRP2	1821	broad.mit.edu	37	chrX	100492743	100492743	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggatgtggccctggtgcaAcaggagaaggagacacatgc	11	5	17	8	0	0	2	0	0	0	2	0	5	0	3	1	6	3	1	1	6	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100492743A>T	ENST00000395209.3	+	5	944	c.417A>T	c.(415-417)caA>caT	p.Q139H	DRP2_ENST00000541709.1_Missense_Mutation_p.Q61H|DRP2_ENST00000538510.1_Missense_Mutation_p.Q139H|DRP2_ENST00000402866.1_Missense_Mutation_p.Q139H	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	139					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						CCCTGGTGCAACAGGAGAAGG	0.542													T	100492743	A	T	100492743	3	4	364	1	0	0	0	0	1	0	0	0	4803	40	2	5	427	5	DRP2	23	100492743	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	6013	100492743	54777817	15352	38854											
DRP2	1821	broad.mit.edu	37	chrX	100503523	100503523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtcgcagcggaaagatgcGggcattgtcttttaagactg	9	11	14	7	3	1	2	0	0	1	2	2	3	1	3	0	3	2	2	0	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100503523G>A	ENST00000395209.3	+	14	2002	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	DRP2_ENST00000541709.1_Missense_Mutation_p.R414Q|DRP2_ENST00000538510.1_Missense_Mutation_p.R492Q|DRP2_ENST00000402866.1_Missense_Mutation_p.R492Q	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	492					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GGAAAGATGCGGGCATTGTCT	0.433													A	100503523	G	A	100503523	3	1	364	1	0	0	0	0	1	0	0	0	4803	1116	39	1	1521	1	DRP2	23	100503523	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10780	100503523	54767037	15353	38855											
TAF7L	54457	broad.mit.edu	37	chrX	100537368	100537368	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctttcttttttcctgactAtattaggatcagtagaggca	9	16	7	9	0	2	2	1	1	1	1	3	3	3	3	2	2	0	2	2	2	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100537368A>G	ENST00000372907.3	-	5	622	c.611T>C	c.(610-612)aTa>aCa	p.I204T	TAF7L_ENST00000324762.6_Missense_Mutation_p.I118T|TAF7L_ENST00000356784.1_Missense_Mutation_p.I118T|TAF7L_ENST00000372905.2_Missense_Mutation_p.I118T	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	204					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding			NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTTCCTGACTATATTAGGATC	0.423													G	100537368	A	G	100537368	3	3	364	1	0	0	0	0	1	0	0	0	15630	449	16	3	813	3	TAF7L	23	100537368	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33845	100537368	54733192	15354	38856											
BTK	695	broad.mit.edu	37	chrX	100604907	100604907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgacatctagaatattgCtcagaagaattttgaaagtg	15	12	8	6	0	2	5	1	2	1	3	2	5	2	5	1	0	1	1	1	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100604907C>A	ENST00000308731.7	-	19	2109	c.1946G>T	c.(1945-1947)aGc>aTc	p.S649I	BTK_ENST00000372880.1_Missense_Mutation_p.S473I	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	649	Protein kinase.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						TAGAATATTGCTCAGAAGAAT	0.403									Agammaglobulinemia, X-linked				A	100604907	C	A	100604907	3	1	364	1	0	0	0	0	1	0	0	0	1567	797	28	4	37	4	BTK	23	100604907	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	67539	100604907	54665653	15355	38857											
BTK	695	broad.mit.edu	37	chrX	100615566	100615566	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactcacccatttttatCtcgtgctctccaccatggta	7	14	7	13	1	3	0	1	0	2	0	5	1	3	1	3	2	1	2	3	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100615566C>A	ENST00000308731.7	-	8	929	c.766G>T	c.(766-768)Gat>Tat	p.D256Y	BTK_ENST00000372880.1_Missense_Mutation_p.D256Y	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	256	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CCATTTTTATCTCGTGCTCTC	0.483									Agammaglobulinemia, X-linked				A	100615566	C	A	100615566	3	1	364	1	0	0	0	0	1	0	0	0	1567	913	32	4	1261	4	BTK	23	100615566	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10659	100615566	54654994	15356	38858											
GLA	2717	broad.mit.edu	37	chrX	100662704	100662704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaatatctgatacctgatgCaggaatctggctcttcctgg	9	12	9	11	0	3	2	0	2	3	0	4	3	4	3	3	3	2	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662704C>T	ENST00000218516.3	-	1	209	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	63					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	ATACCTGATGCAGGAATCTGG	0.537													T	100662704	C	T	100662704	3	4	364	1	0	0	0	0	1	0	0	0	6482	710	25	2	1129	2	GLA	23	100662704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47138	100662704	54607856	15357	38859											
GLA	2717	broad.mit.edu	37	chrX	100662836	100662836	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccaggaaacgagggccAggaagcgaagcgcaagcgcg	12	2	16	11	5	0	0	0	0	0	0	1	4	1	2	2	3	4	1	2	3	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100662836A>C	ENST00000218516.3	-	1	77	c.56T>G	c.(55-57)cTg>cGg	p.L19R	RPL36A-HNRNPH2_ENST00000409170.3_Intron|GLA_ENST00000479445.1_5'UTR	NM_000169.2	NP_000160.1	P06280	AGAL_HUMAN	galactosidase, alpha	19					glycoside catabolic process|glycosphingolipid catabolic process|glycosylceramide catabolic process|negative regulation of nitric oxide biosynthetic process|negative regulation of nitric-oxide synthase activity|oligosaccharide metabolic process	extracellular region|Golgi apparatus|lysosome	cation binding|protein homodimerization activity|raffinose alpha-galactosidase activity|receptor binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14					Agalsidase beta(DB00103)	AACGAGGGCCAGGAAGCGAAG	0.602													C	100662836	A	C	100662836	3	2	364	1	0	0	0	0	1	0	0	0	6482	188	7	5	1261	5	GLA	23	100662836	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	132	100662836	54607724	15358	38860											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667626	100667626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataggccgggggctggcaGagggtataatagcattggca	10	8	17	6	1	0	2	0	1	0	1	0	2	0	2	1	6	1	5	1	6	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667626G>T	ENST00000316594.5	+	2	728	c.650G>T	c.(649-651)aGa>aTa	p.R217I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	217					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGGGCTGGCAGAGGGTATAAT	0.537													T	100667626	G	T	100667626	3	4	364	1	0	0	0	0	1	0	0	0	7322	942	33	4	652	4	HNRNPH2	23	100667626	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4790	100667626	54602934	15359	38861											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667953	100667953	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattggacccgatggcaGagttaccggtgaggcagatg	11	8	15	7	2	0	4	0	2	0	2	0	6	0	5	2	4	1	3	2	4	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100667953G>T	ENST00000316594.5	+	2	1055	c.977G>T	c.(976-978)aGa>aTa	p.R326I		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	326	2 X 16 AA Gly-rich approximate repeats.|RRM 3.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						CCCGATGGCAGAGTTACCGGT	0.423													T	100667953	G	T	100667953	3	4	364	1	0	0	0	0	1	0	0	0	7322	942	33	4	979	4	HNRNPH2	23	100667953	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	327	100667953	54602607	15360	38862											
HNRNPH2	3188	broad.mit.edu	37	chrX	100668321	100668321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgactatcagtcaaaccttGcttaggtagagaaggagcac	13	9	11	8	0	2	2	2	1	0	1	2	4	2	3	1	2	3	3	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:100668321G>A	ENST00000316594.5	+	2	1423	c.1345G>A	c.(1345-1347)Gct>Act	p.A449T		NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	449					nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GTCAAACCTTGCTTAGGTAGA	0.428													A	100668321	G	A	100668321	3	1	364	1	0	0	0	0	1	0	0	0	7322	1319	46	2	1347	2	HNRNPH2	23	100668321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	368	100668321	54602239	15361	38863											
TCEAL6	158931	broad.mit.edu	37	chrX	101396115	101396115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcttttcctggcttccCttatcttccagttgtccctc	2	17	5	17	0	1	0	0	0	1	0	6	0	5	0	5	1	1	3	5	1	1	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101396115C>A	ENST00000372774.3	-	3	438	c.189G>T	c.(187-189)aaG>aaT	p.K63N	TCEAL6_ENST00000372773.1_Missense_Mutation_p.K63N	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	63	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						CCTGGCTTCCCTTATCTTCCA	0.617													A	101396115	C	A	101396115	3	1	364	1	0	0	0	0	1	0	0	0	15775	680	24	4	366	4	TCEAL6	23	101396115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	727794	101396115	53874445	15362	38864											
GPRASP1	9737	broad.mit.edu	37	chrX	101911928	101911928	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccatttgcaggtccacGtgttcagttgaacaggagcc	9	9	13	10	1	1	1	1	1	0	0	2	2	2	2	3	3	3	3	3	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101911928G>A	ENST00000537097.1	+	6	3900	c.3087G>A	c.(3085-3087)acG>acA	p.T1029T	GPRASP1_ENST00000444152.1_Silent_p.T1029T|GPRASP1_ENST00000361600.5_Silent_p.T1029T|GPRASP1_ENST00000415986.1_Silent_p.T1029T|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1029	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GCAGGTCCACGTGTTCAGTTG	0.557													A	101911928	G	A	101911928	2	1	364	1	0	0	0	0	0	0	0	1	6777	1132	40	1		1	GPRASP1	23	101911928	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	515813	101911928	53358632	15363	38865											
GPRASP1	9737	broad.mit.edu	37	chrX	101912339	101912339	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttattaatggaaaaaatTcgggatccttttattcatga	13	17	6	5	1	1	1	1	1	0	0	3	3	2	3	1	2	0	0	1	2	6	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912339T>A	ENST00000537097.1	+	6	4311	c.3498T>A	c.(3496-3498)atT>atA	p.I1166I	GPRASP1_ENST00000444152.1_Silent_p.I1166I|GPRASP1_ENST00000361600.5_Silent_p.I1166I|GPRASP1_ENST00000415986.1_Silent_p.I1166I|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1166	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGAAAAAATTCGGGATCCTT	0.373													A	101912339	T	A	101912339	2	1	364	1	0	0	0	0	0	0	0	1	6777	1771	62	5		5	GPRASP1	23	101912339	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	411	101912339	53358221	15364	38866											
GPRASP1	9737	broad.mit.edu	37	chrX	101912597	101912597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttatagcgtggattccccGgaacagctgtctggaataag	10	10	12	9	2	1	0	0	0	1	0	2	3	2	3	2	3	3	2	2	3	5	4	rs142372042		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101912597G>A	ENST00000537097.1	+	6	4569	c.3756G>A	c.(3754-3756)ccG>ccA	p.P1252P	GPRASP1_ENST00000444152.1_Silent_p.P1252P|GPRASP1_ENST00000361600.5_Silent_p.P1252P|GPRASP1_ENST00000415986.1_Silent_p.P1252P|RP4-769N13.7_ENST00000602441.1_RNA	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1252	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGGATTCCCCGGAACAGCTGT	0.413													A	101912597	G	A	101912597	2	1	364	1	0	0	0	0	0	0	0	1	6777	1103	39	1		1	GPRASP1	23	101912597	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	258	101912597	53357963	15365	38867											
GPRASP2	114928	broad.mit.edu	37	chrX	101971015	101971015	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtggagcttcagcaatCtgtgaatctgagccaggaac	11	8	14	8	0	3	2	1	2	2	0	3	5	3	4	1	3	4	2	1	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971015C>A	ENST00000543253.1	+	5	2137	c.1218C>A	c.(1216-1218)atC>atA	p.I406I	GPRASP2_ENST00000332262.5_Silent_p.I406I|GPRASP2_ENST00000535209.1_Silent_p.I406I	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CTTCAGCAATCTGTGAATCTG	0.547													A	101971015	C	A	101971015	2	1	364	1	0	0	0	0	0	0	0	1	6778	903	32	4		4	GPRASP2	23	101971015	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	58418	101971015	53299545	15366	38868											
GPRASP2	114928	broad.mit.edu	37	chrX	101971332	101971332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggcttccgatccacaaGcccctttggaattcccgaag	8	10	10	13	2	0	0	0	0	0	0	3	3	3	1	5	3	1	2	5	3	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:101971332G>A	ENST00000543253.1	+	5	2454	c.1535G>A	c.(1534-1536)aGc>aAc	p.S512N	GPRASP2_ENST00000332262.5_Missense_Mutation_p.S512N|GPRASP2_ENST00000535209.1_Missense_Mutation_p.S512N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CGATCCACAAGCCCCTTTGGA	0.512													A	101971332	G	A	101971332	3	1	364	1	0	0	0	0	1	0	0	0	6778	971	34	2	1537	2	GPRASP2	23	101971332	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	317	101971332	53299228	15367	38869											
BHLHB9	80823	broad.mit.edu	37	chrX	102005007	102005007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttgcccaagagtttattAacgaagtaggtgtagtgaca	13	12	10	6	1	0	2	0	1	0	1	0	3	0	2	1	1	2	3	1	1	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102005007A>G	ENST00000372735.1	+	4	1669	c.1084A>G	c.(1084-1086)Aac>Gac	p.N362D	BHLHB9_ENST00000448867.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000457056.1_Missense_Mutation_p.N362D|BHLHB9_ENST00000361229.4_Missense_Mutation_p.N362D|BHLHB9_ENST00000447531.1_Missense_Mutation_p.N362D			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	362						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGAGTTTATTAACGAAGTAGG	0.388													G	102005007	A	G	102005007	3	3	364	1	0	0	0	0	1	0	0	0	1426	362	13	3	1086	3	BHLHB9	23	102005007	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	33675	102005007	53265553	15368	38870											
RAB40AL	282808	broad.mit.edu	37	chrX	102192394	102192394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagtcacctggggggaatcGactacaagacgaccaccatc	13	5	10	13	2	1	1	1	0	0	1	3	4	1	2	3	3	1	0	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192394G>A	ENST00000218249.5	+	1	195	c.148G>A	c.(148-150)Gac>Aac	p.D50N		NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	50					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						GGGGGGAATCGACTACAAGAC	0.607													A	102192394	G	A	102192394	3	1	364	1	0	0	0	0	1	0	0	0	13028	1058	37	1	150	1	RAB40AL	23	102192394	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	187387	102192394	53078166	15369	38871											
RAB40AL	282808	broad.mit.edu	37	chrX	102192955	102192955	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaatgccaggatgatgCgaggcctctcctactccctc	7	9	10	15	1	1	2	0	2	1	0	4	4	2	3	5	2	3	0	5	2	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102192955C>T	ENST00000218249.5	+	1	756	c.709C>T	c.(709-711)Cga>Tga	p.R237*	LL0XNC01-237H1.3_ENST00000413528.1_RNA	NM_001031834.1	NP_001027004.1	P0C0E4	RB40L_HUMAN	RAB40A, member RAS oncogene family-like	237					protein transport|small GTPase mediated signal transduction	mitochondrion|plasma membrane	GTP binding	p.R237*(2)		endometrium(4)|large_intestine(2)|lung(3)|ovary(3)	12						CAGGATGATGCGAGGCCTCTC	0.572													T	102192955	C	T	102192955	4	4	364	1	0	0	0	0	0	1	0	0	13028	760	27	1	711	1	RAB40AL	23	102192955	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	561	102192955	53077605	15370	38872											
BEX1	55859	broad.mit.edu	37	chrX	102317981	102317981	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcttctctcatccttgcCtgtggttctccaagcctatg	4	17	6	14	0	4	0	1	0	3	0	8	0	5	0	4	1	2	1	4	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102317981C>A	ENST00000372728.3	-	3	461	c.222G>T	c.(220-222)caG>caT	p.Q74H		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	74					cell differentiation|nervous system development	cytoplasm|nucleus				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						TCATCCTTGCCTGTGGTTCTC	0.507													A	102317981	C	A	102317981	3	1	364	1	0	0	0	0	1	0	0	0	1416	680	24	4	159	4	BEX1	23	102317981	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	125026	102317981	52952579	15371	38873											
BEX1	55859	broad.mit.edu	37	chrX	102318100	102318100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagcatccaaagggagggCcaagggctcccctttattag	11	7	11	12	0	0	0	0	0	0	0	2	1	2	1	5	3	1	2	5	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102318100C>T	ENST00000372728.3	-	3	342	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_018476.3	NP_060946.3	Q9HBH7	BEX1_HUMAN	brain expressed, X-linked 1	35					cell differentiation|nervous system development	cytoplasm|nucleus		p.A35T(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(2)	12						AAAGGGAGGGCCAAGGGCTCC	0.488													T	102318100	C	T	102318100	3	4	364	1	0	0	0	0	1	0	0	0	1416	739	26	2	278	2	BEX1	23	102318100	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	102318100	52952460	15372	38874											
NXF3	56000	broad.mit.edu	37	chrX	102334163	102334163	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actcaccttccttgaacaccCcgttgacagaaaagcagagc	13	7	7	14	1	1	4	1	2	0	2	2	4	2	4	4	0	3	2	4	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102334163C>A	ENST00000395065.3	-	16	1465	c.1364G>T	c.(1363-1365)gGg>gTg	p.G455V	NXF3_ENST00000425644.1_Missense_Mutation_p.G127V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	455	NTF2.					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CTTGAACACCCCGTTGACAGA	0.587													A	102334163	C	A	102334163	3	1	364	1	0	0	0	0	1	0	0	0	10861	623	22	4	247	4	NXF3	23	102334163	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	16063	102334163	52936397	15373	38875											
NXF3	56000	broad.mit.edu	37	chrX	102338621	102338621	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttatgccaaagggaacCtatgagtgaaagaaagaatg	17	10	10	4	0	0	4	0	2	0	2	0	5	0	5	2	1	2	0	2	1	8	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102338621C>A	ENST00000395065.3	-	4	453		c.e4-1		NXF3_ENST00000425463.2_Splice_Site|NXF3_ENST00000425644.1_Splice_Site	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3							cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAAAGGGAACCTATGAGTGAA	0.388													A	102338621	C	A	102338621	5	1	364	1	0	0	0	0	0	0	1	0	10861	695	24	4	1308	4	NXF3	23	102338621	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	4458	102338621	52931939	15374	38876											
BEX4	56271	broad.mit.edu	37	chrX	102471115	102471115	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaactagcggcaaacaatCtcaacggggaaaatgcccaa	17	4	10	10	2	1	0	1	0	1	0	2	2	1	2	1	4	5	1	1	4	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102471115C>A	ENST00000372695.5	+	3	269	c.34C>A	c.(34-36)Ctc>Atc	p.L12I	BEX4_ENST00000372691.3_Missense_Mutation_p.L12I	NM_001080425.3	NP_001073894.1	Q9NWD9	BEX4_HUMAN	brain expressed, X-linked 4	12						cytoplasm|nucleus				endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	9						GGCAAACAATCTCAACGGGGA	0.512													A	102471115	C	A	102471115	3	1	364	1	0	0	0	0	1	0	0	0	1418	913	32	4	36	4	BEX4	23	102471115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	132494	102471115	52799445	15375	38877											
BEX2	84707	broad.mit.edu	37	chrX	102564673	102564673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attctcctctctcatccttgCctgtggctctccaagcctat	5	15	5	16	0	4	0	1	0	3	0	8	0	5	0	5	1	2	1	5	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102564673C>T	ENST00000536889.1	-	3	685	c.328G>A	c.(328-330)Gca>Aca	p.A110T	BEX2_ENST00000372674.1_Missense_Mutation_p.A78T|BEX2_ENST00000372677.3_Missense_Mutation_p.A78T	NM_001168399.1|NM_001168400.1	NP_001161871.1|NP_001161872.1	Q9BXY8	BEX2_HUMAN	brain expressed X-linked 2	78					apoptosis|cell cycle|regulation of apoptosis|regulation of cell cycle	cytoplasm|nucleus				endometrium(1)|lung(1)|ovary(1)	3						CTCATCCTTGCCTGTGGCTCT	0.512													T	102564673	C	T	102564673	3	4	364	1	0	0	0	0	1	0	0	0	1417	739	26	2	158	2	BEX2	23	102564673	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	93558	102564673	52705887	15376	38878											
RAB40A	142684	broad.mit.edu	37	chrX	102754930	102754930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctccactttgcagaggCtgctcttgtgagtggagctg	6	12	13	10	1	2	2	0	1	2	1	3	4	2	3	1	2	3	4	1	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:102754930C>T	ENST00000372633.1	-	1	2873	c.755G>A	c.(754-756)aGc>aAc	p.S252N	LL0XNC01-250H12.3_ENST00000445990.1_RNA|RAB40A_ENST00000304236.1_Missense_Mutation_p.S252N			Q8WXH6	RB40A_HUMAN	RAB40A, member RAS oncogene family	252					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						TTTGCAGAGGCTGCTCTTGTG	0.537													T	102754930	C	T	102754930	3	4	364	1	0	0	0	0	1	0	0	0	13027	797	28	2	82	2	RAB40A	23	102754930	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190257	102754930	52515630	15377	38879											
PLP1	5354	broad.mit.edu	37	chrX	103040568	103040568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctttgcttccctggtggCcactggattgtgtttctttg	2	17	10	12	0	1	0	0	0	1	0	2	1	2	1	4	3	1	2	4	3	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103040568C>T	ENST00000418604.1	+	3	342	c.62C>T	c.(61-63)gCc>gTc	p.A21V	PLP1_ENST00000303958.2_Missense_Mutation_p.A21V|PLP1_ENST00000361621.2_Missense_Mutation_p.A21V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	21					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TCCCTGGTGGCCACTGGATTG	0.517													T	103040568	C	T	103040568	3	4	364	1	0	0	0	0	1	0	0	0	12181	739	26	2	68	2	PLP1	23	103040568	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	285638	103040568	52229992	15378	38880											
ZCCHC18	644353	broad.mit.edu	37	chrX	103358835	103358835	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcgtgtgtgggtaacagCaggcagcagaatgcaccttt	10	9	13	9	1	0	1	0	0	0	1	0	1	0	1	1	2	5	5	1	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103358835C>T	ENST00000537356.3	+	2	1447	c.33C>T	c.(31-33)agC>agT	p.S11S	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18								nucleic acid binding|zinc ion binding										TGGGTAACAGCAGGCAGCAGA	0.507													T	103358835	C	T	103358835	2	4	364	1	0	0	0	0	0	0	0	1	17687	709	25	2		2	ZCCHC18	23	103358835	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	318267	103358835	51911725	15379	38881											
ZCCHC18	644353	broad.mit.edu	37	chrX	103359095	103359095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccctgcccgggaggtcaTgcgtttgcttcaggcggcca	4	8	16	13	3	2	0	2	0	0	0	2	1	2	1	3	5	3	2	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359095T>C	ENST00000537356.3	+	2	1707	c.293T>C	c.(292-294)aTg>aCg	p.M98T	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18								nucleic acid binding|zinc ion binding										CGGGAGGTCATGCGTTTGCTT	0.517													C	103359095	T	C	103359095	3	2	364	1	0	0	0	0	1	0	0	0	17687	1464	51	3	295	3	ZCCHC18	23	103359095	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	260	103359095	51911465	15380	38882											
ZCCHC18	644353	broad.mit.edu	37	chrX	103359493	103359493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcttttattaaacggaagCggccgaaaaggtctgagcca	13	9	11	8	3	1	1	0	1	1	0	1	3	1	2	2	3	4	1	2	3	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103359493C>T	ENST00000537356.3	+	2	2105	c.691C>T	c.(691-693)Cgg>Tgg	p.R231W	SLC25A53_ENST00000357421.4_Intron|ZCCHC18_ENST00000422784.1_Intron			P0CG32	ZCC18_HUMAN	zinc finger, CCHC domain containing 18								nucleic acid binding|zinc ion binding										TAAACGGAAGCGGCCGAAAAG	0.493													T	103359493	C	T	103359493	3	4	364	1	0	0	0	0	1	0	0	0	17687	759	27	1	693	1	ZCCHC18	23	103359493	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	398	103359493	51911067	15381	38883											
ESX1	80712	broad.mit.edu	37	chrX	103499526	103499526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtacccgcgaagagacTccatgcttcaagcgctgtcg	8	8	13	12	4	1	1	1	0	0	1	3	3	2	1	2	1	3	3	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:103499526T>C	ENST00000372588.4	-	1	88	c.5A>G	c.(4-6)gAg>gGg	p.E2G		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	2					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						GCGAAGAGACTCCATGCTTCA	0.592													C	103499526	T	C	103499526	3	2	364	1	0	0	0	0	1	0	0	0	5304	1551	54	3	1231	3	ESX1	23	103499526	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	140033	103499526	51771034	15382	38884											
TEX13A	56157	broad.mit.edu	37	chrX	104465051	104465051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgttgctatgccggaaccCgctactggggtcctcaggtc	6	9	12	14	3	1	0	1	0	0	0	3	1	2	1	3	4	4	3	3	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104465051C>T	ENST00000372578.3	-	2	142	c.31G>A	c.(31-33)Ggg>Agg	p.G11R	IL1RAPL2_ENST00000372582.1_Intron|TEX13A_ENST00000372575.1_Missense_Mutation_p.G11R|IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000413579.1_Missense_Mutation_p.G11R	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	11						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						TGCCGGAACCCGCTACTGGGG	0.537													T	104465051	C	T	104465051	3	4	364	1	0	0	0	0	1	0	0	0	15876	652	23	1	1208	1	TEX13A	23	104465051	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	965525	104465051	50805509	15383	38885											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104728341	104728341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctcccaagccattgttccCcatggagaatcagccaagtg	10	8	9	14	0	1	1	1	0	0	1	3	2	3	1	6	1	2	1	6	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:104728341C>T	ENST00000372582.1	+	6	1490	c.734C>T	c.(733-735)cCc>cTc	p.P245L	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.P245L	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	245	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CCATTGTTCCCCATGGAGAAT	0.408													T	104728341	C	T	104728341	3	4	364	1	0	0	0	0	1	0	0	0	7720	623	22	2	752	2	IL1RAPL2	23	104728341	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	263290	104728341	50542219	15384	38886											
NRK	203447	broad.mit.edu	37	chrX	105193586	105193586	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctggaaatcattatacCacagaatatcatcattttac	14	12	4	11	0	3	1	3	0	0	1	3	2	3	2	3	1	2	0	3	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105193586C>A	ENST00000428173.2	+	27	4679	c.4376C>A	c.(4375-4377)cCa>cAa	p.P1459Q	NRK_ENST00000540278.1_Intron|NRK_ENST00000243300.9_Missense_Mutation_p.P1458Q			Q7Z2Y5	NRK_HUMAN	Nik related kinase	1458	CNH.						ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ATCATTATACCACAGAATATC	0.378										HNSCC(51;0.14)			A	105193586	C	A	105193586	3	1	364	1	0	0	0	0	1	0	0	0	10731	594	21	4	4479	4	NRK	23	105193586	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	465245	105193586	50076974	15385	38887											
MUM1L1	139221	broad.mit.edu	37	chrX	105450704	105450704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagtgtgctttttgttgagGcaaacatgaattctgaaaag	13	13	10	5	0	1	3	0	3	1	0	1	3	1	3	0	1	2	3	0	1	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:105450704G>A	ENST00000337685.2	+	5	2064	c.1279G>A	c.(1279-1281)Gca>Aca	p.A427T	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A427T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.A427T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	427	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						TTTTGTTGAGGCAAACATGAA	0.338													A	105450704	G	A	105450704	3	1	364	1	0	0	0	0	1	0	0	0	10062	1203	42	2	1281	2	MUM1L1	23	105450704	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	257118	105450704	49819856	15386	38888											
RNF128	79589	broad.mit.edu	37	chrX	106016254	106016254	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagaagtagggaaaaaacAtggcccttgggtgaatcact	15	8	11	7	0	1	2	1	1	0	1	1	3	1	3	1	3	1	1	1	3	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106016254A>T	ENST00000255499.2	+	2	846	c.596A>T	c.(595-597)cAt>cTt	p.H199L	RNF128_ENST00000324342.3_Missense_Mutation_p.H173L	NM_194463.1	NP_919445.1	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	199						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						GGGAAAAAACATGGCCCTTGG	0.373													T	106016254	A	T	106016254	3	4	364	1	0	0	0	0	1	0	0	0	13527	217	8	5	1012	5	RNF128	23	106016254	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	565550	106016254	49254306	15387	38889											
TBC1D8B	54885	broad.mit.edu	37	chrX	106108807	106108807	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgcgtgttgtatcacaaGatgtgaaattgagccttcaa	12	13	10	6	1	2	3	2	2	0	1	2	3	2	3	1	0	2	3	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106108807G>T	ENST00000357242.5	+	15	2545	c.2371G>T	c.(2371-2373)Gat>Tat	p.D791Y	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D785Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	791						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGTATCACAAGATGTGAAATT	0.289													T	106108807	G	T	106108807	3	4	364	1	0	0	0	0	1	0	0	0	15726	942	33	4	2495	4	TBC1D8B	23	106108807	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	92553	106108807	49161753	15388	38890											
CLDN2	9075	broad.mit.edu	37	chrX	106171567	106171567	+	Missense_Mutation	SNP	G	G	A																															ggaaaacaagttcttatgtcGgtgccagcattgtgacagca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171567G>A	ENST00000541806.1	+	2	628	c.109G>A	c.(109-111)Ggt>Agt	p.G37S	CLDN2_ENST00000336803.1_Missense_Mutation_p.G37S|CLDN2_ENST00000540876.1_Missense_Mutation_p.G37S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	37					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TTCTTATGTCGGTGCCAGCAT	0.547													A	106171567	G	A	106171567	3	1	364	1	0	0	0	0	1	0	0	0	3512	1116	39	1	111	1	CLDN2	23	106171567	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	62760	106171567	49098993	15389	38891	122	2									
CLDN2	9075	broad.mit.edu	37	chrX	106171575	106171575	+	Silent	SNP	C	C	T																															agttcttatgtcggtgccagCattgtgacagcagttggctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171575C>T	ENST00000541806.1	+	2	636	c.117C>T	c.(115-117)agC>agT	p.S39S	CLDN2_ENST00000336803.1_Silent_p.S39S|CLDN2_ENST00000540876.1_Silent_p.S39S	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	39					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCGGTGCCAGCATTGTGACAG	0.552													T	106171575	C	T	106171575	2	4	364	1	0	0	0	0	0	0	0	1	3512	709	25	2		2	CLDN2	23	106171575	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	8	106171575	49098985	15390	38892	122	2									
CLDN2	9075	broad.mit.edu	37	chrX	106171742	106171742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatctcctccctggcctGcattatctctgtggtgggca	5	13	10	13	0	2	0	0	0	2	0	5	0	3	0	3	3	2	3	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106171742G>A	ENST00000541806.1	+	2	803	c.284G>A	c.(283-285)tGc>tAc	p.C95Y	CLDN2_ENST00000336803.1_Missense_Mutation_p.C95Y|CLDN2_ENST00000540876.1_Missense_Mutation_p.C95Y	NM_001171092.1	NP_001164563.1	P57739	CLD2_HUMAN	claudin 2	95					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	9						TCCCTGGCCTGCATTATCTCT	0.562													A	106171742	G	A	106171742	3	1	364	1	0	0	0	0	1	0	0	0	3512	1319	46	2	286	2	CLDN2	23	106171742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	167	106171742	49098818	15391	38893											
MORC4	79710	broad.mit.edu	37	chrX	106185816	106185816	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctcttcaattcttccaGctctctctggttcttcaact	5	18	5	13	0	7	0	2	0	5	0	10	0	8	0	1	2	2	3	1	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106185816G>T	ENST00000355610.4	-	15	2579	c.2305C>A	c.(2305-2307)Ctg>Atg	p.L769M	MORC4_ENST00000535534.1_Missense_Mutation_p.L517M|MORC4_ENST00000255495.7_Missense_Mutation_p.L769M	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	769							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						AATTCTTCCAGCTCTCTCTGG	0.458													T	106185816	G	T	106185816	3	4	364	1	0	0	0	0	1	0	0	0	9780	962	34	4	520	4	MORC4	23	106185816	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14074	106185816	49084744	15392	38894											
RBM41	55285	broad.mit.edu	37	chrX	106310818	106310818	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgagagaagtcgcttggAgatttgaccgttgctttttg	9	15	12	5	2	0	4	0	2	0	2	1	6	0	4	1	1	1	3	1	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:106310818A>G	ENST00000372487.1	-	7	1207	c.1181T>C	c.(1180-1182)cTc>cCc	p.L394P	RBM41_ENST00000372479.3_Missense_Mutation_p.L394P	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	394							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						AGTCGCTTGGAGATTTGACCG	0.383													G	106310818	A	G	106310818	3	3	364	1	0	0	0	0	1	0	0	0	13223	304	11	3	73	3	RBM41	23	106310818	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	125002	106310818	48959742	15393	38895											
TSC22D3	1831	broad.mit.edu	37	chrX	107018362	107018362	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggatggagagcatggtCtggtcgatgttgcggttgca	8	10	17	6	2	1	1	0	0	1	1	2	4	1	2	0	5	4	5	0	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107018362C>A	ENST00000372383.4	-	1	655	c.288G>T	c.(286-288)caG>caT	p.Q96H	TSC22D3_ENST00000506081.1_Missense_Mutation_p.Q96H|TSC22D3_ENST00000372384.2_Missense_Mutation_p.Q96H|TSC22D3_ENST00000315660.4_Missense_Mutation_p.Q96H|TSC22D3_ENST00000514426.1_Missense_Mutation_p.Q28H	NM_198057.2	NP_932174.1	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	0	Leucine-zipper.						sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(2)|lung(3)	6						AGAGCATGGTCTGGTCGATGT	0.607													A	107018362	C	A	107018362	3	1	364	1	0	0	0	0	1	0	0	0	16710	912	32	4	452	4	TSC22D3	23	107018362	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	707544	107018362	48252198	15394	38896											
TEX13B	56156	broad.mit.edu	37	chrX	107225148	107225148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacacccaaggccaggctGccccaggtgcaggcctcttt	7	6	11	17	1	1	0	0	0	1	0	1	0	1	0	5	4	2	3	5	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107225148G>A	ENST00000302917.1	-	2	302	c.210C>T	c.(208-210)ggC>ggT	p.G70G		NM_031273.2	NP_112563.1	Q9BXU2	TX13B_HUMAN	testis expressed 13B	70										breast(1)|endometrium(5)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28						AGGCCAGGCTGCCCCAGGTGC	0.597													A	107225148	G	A	107225148	2	1	364	1	0	0	0	0	0	0	0	1	15877	1306	46	2		2	TEX13B	23	107225148	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	206786	107225148	48045412	15395	38897											
VSIG1	340547	broad.mit.edu	37	chrX	107288394	107288394	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggaaggtctttctgatcCtaagctgccttgcaggtaag	8	14	11	8	0	2	1	0	1	2	0	3	2	3	2	2	3	3	3	2	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107288394C>T	ENST00000415430.3	+	1	195	c.34C>T	c.(34-36)Cta>Tta	p.L12L	VSIG1_ENST00000217957.5_Silent_p.L12L	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	12						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CTTTCTGATCCTAAGCTGCCT	0.408													T	107288394	C	T	107288394	2	4	364	1	0	0	0	0	0	0	0	1	17324	680	24	2		2	VSIG1	23	107288394	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	63246	107288394	47982166	15396	38898											
VSIG1	340547	broad.mit.edu	37	chrX	107301375	107301375	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccactgtggcctcccgaGaacagctttccatccagtgg	8	8	9	16	1	0	1	0	0	0	1	3	2	3	1	6	2	2	1	6	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107301375G>T	ENST00000415430.3	+	2	318	c.157G>T	c.(157-159)Gaa>Taa	p.E53*	VSIG1_ENST00000217957.5_Nonsense_Mutation_p.E53*	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	53	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GGCCTCCCGAGAACAGCTTTC	0.468													T	107301375	G	T	107301375	4	4	364	1	0	0	0	0	0	1	0	0	17324	943	33	4	163	4	VSIG1	23	107301375	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12981	107301375	47969185	15397	38899											
VSIG1	340547	broad.mit.edu	37	chrX	107310334	107310334	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagactttctcggccaaAaccaaggcatcctcaacgtc	11	7	6	17	2	2	1	1	0	1	1	5	1	3	1	5	2	2	1	5	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107310334A>C	ENST00000415430.3	+	4	651	c.490A>C	c.(490-492)Aac>Cac	p.N164H	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Missense_Mutation_p.N128H	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	128	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						TCTCGGCCAAAACCAAGGCAT	0.448													C	107310334	A	C	107310334	3	2	364	1	0	0	0	0	1	0	0	0	17324	14	1	5	504	5	VSIG1	23	107310334	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8959	107310334	47960226	15398	38900											
ATG4A	115201	broad.mit.edu	37	chrX	107381354	107381354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctccaggagtgttttaaGatgccacagtctttaggggc	8	13	11	9	0	2	1	0	0	2	1	4	2	3	2	2	3	1	1	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107381354G>T	ENST00000372232.3	+	9	906	c.747G>T	c.(745-747)aaG>aaT	p.K249N	ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000372254.3_Missense_Mutation_p.K225N|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	249					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity			endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						AGTGTTTTAAGATGCCACAGT	0.448													T	107381354	G	T	107381354	3	4	364	1	0	0	0	0	1	0	0	0	1101	933	33	4	781	4	ATG4A	23	107381354	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71020	107381354	47889206	15399	38901											
COL4A6	1288	broad.mit.edu	37	chrX	107420134	107420134	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcttcctttcagtcCtactaggcctggatttccag	5	13	10	13	0	1	0	1	0	0	0	4	1	4	1	5	3	1	1	5	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107420134C>A	ENST00000394872.2	-	28	2857	c.2626G>T	c.(2626-2628)Gga>Tga	p.G876*	COL4A6_ENST00000372216.4_Nonsense_Mutation_p.G876*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.G875*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.G875*			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	876	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						CCTTTCAGTCCTACTAGGCCT	0.537									Alport syndrome with Diffuse Leiomyomatosis				A	107420134	C	A	107420134	4	1	364	1	0	0	0	0	0	1	0	0	3726	690	24	4	2521	4	COL4A6	23	107420134	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	38780	107420134	47850426	15400	38902											
COL4A6	1288	broad.mit.edu	37	chrX	107436903	107436903	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgaaaacatctgggcctgGcaggccaatgtcaccctttt	10	10	10	11	0	2	1	1	1	1	0	2	2	2	1	3	3	1	1	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107436903G>A	ENST00000394872.2	-	17	1261	c.1030C>T	c.(1030-1032)Cca>Tca	p.P344S	COL4A6_ENST00000372216.4_Missense_Mutation_p.P344S|COL4A6_ENST00000538570.1_Missense_Mutation_p.P343S|COL4A6_ENST00000545689.1_Missense_Mutation_p.P343S|COL4A6_ENST00000334504.7_Missense_Mutation_p.P343S			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	344	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TCTGGGCCTGGCAGGCCAATG	0.383									Alport syndrome with Diffuse Leiomyomatosis				A	107436903	G	A	107436903	3	1	364	1	0	0	0	0	1	0	0	0	3726	1203	42	2	4161	2	COL4A6	23	107436903	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	16769	107436903	47833657	15401	38903											
COL4A6	1288	broad.mit.edu	37	chrX	107554055	107554055	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctttccataagacttctCtccctattaaaaaaaggaaa	15	12	5	9	0	1	1	0	0	1	1	4	2	3	2	2	2	0	1	2	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107554055C>A	ENST00000394872.2	-	3	298	c.67G>T	c.(67-69)Gag>Tag	p.E23*	COL4A6_ENST00000372216.4_Nonsense_Mutation_p.E24*|COL4A6_ENST00000538570.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000461897.1_5'UTR|COL4A6_ENST00000545689.1_Nonsense_Mutation_p.E23*|COL4A6_ENST00000334504.7_Nonsense_Mutation_p.E23*			Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	24	7S domain.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						TAAGACTTCTCTCCCTATTAA	0.413									Alport syndrome with Diffuse Leiomyomatosis				A	107554055	C	A	107554055	4	1	364	1	0	0	0	0	0	1	0	0	3726	922	32	4	5177	4	COL4A6	23	107554055	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	117152	107554055	47716505	15402	38904											
COL4A5	1287	broad.mit.edu	37	chrX	107869006	107869006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggacttaaaggaaccatcGgtgatatgggttttccaggt	10	12	12	7	1	0	1	0	1	0	0	2	3	1	3	2	5	1	1	2	5	4	4	rs104886210		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107869006G>A	ENST00000328300.6	+	35	3332	c.3088G>A	c.(3088-3090)Ggt>Agt	p.G1030S	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1030S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1030	Triple-helical region.		G -> S (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGGAACCATCGGTGATATGGG	0.408									Alport syndrome with Diffuse Leiomyomatosis				A	107869006	G	A	107869006	3	1	364	1	0	0	0	0	1	0	0	0	3725	1116	39	1	3226	1	COL4A5	23	107869006	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	314951	107869006	47401554	15403	38905											
COL4A5	1287	broad.mit.edu	37	chrX	107925050	107925050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aattaaaggagatgctggtcCtccaggaatccctggccagc	11	8	11	11	0	0	1	0	0	0	1	3	3	3	2	4	4	2	1	4	4	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107925050C>T	ENST00000328300.6	+	47	4392	c.4148C>T	c.(4147-4149)cCt>cTt	p.P1383L	COL4A5_ENST00000361603.2_Missense_Mutation_p.P1377L	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1377	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GATGCTGGTCCTCCAGGAATC	0.463									Alport syndrome with Diffuse Leiomyomatosis				T	107925050	C	T	107925050	3	4	364	1	0	0	0	0	1	0	0	0	3725	681	24	2	4319	2	COL4A5	23	107925050	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	56044	107925050	47345510	15404	38906											
IRS4	8471	broad.mit.edu	37	chrX	107976513	107976513	+	Frame_Shift_Del	DEL	A	A	-																															ctggtgtcattgctgagttgAaaattacttcaatgtagtca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107976513delA	ENST00000372129.2	-	1	3138	c.3062delT	c.(3061-3063)ttcfs	p.F1021fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	1021						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						TGCTGAGTTGAAAATTACTTC	0.488													-	107976513	A	-	107976513	7	5	364	1	0	1	0	1	0	0	0	0	7900	246	9	0	715	0	IRS4	23	107976513	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	51463	107976513	47294047	15405	38907											
IRS4	8471	broad.mit.edu	37	chrX	107977146	107977146	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaaaagggtttggtagaGagaagtaggagctccaactt	13	9	13	6	1	0	2	0	0	0	2	2	5	2	3	2	3	2	4	2	3	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977146G>T	ENST00000372129.2	-	1	2505	c.2429C>A	c.(2428-2430)tCt>tAt	p.S810Y		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	810						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GTTTGGTAGAGAGAAGTAGGA	0.493													T	107977146	G	T	107977146	3	4	364	1	0	0	0	0	1	0	0	0	7900	942	33	4	1348	4	IRS4	23	107977146	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	633	107977146	47293414	15406	38908											
IRS4	8471	broad.mit.edu	37	chrX	107977626	107977626	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aataaagtctgaatcttcccCcagacttcccttttccacca	11	12	3	15	0	2	2	0	1	2	1	5	2	5	2	5	0	0	0	5	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:107977626C>A	ENST00000372129.2	-	1	2025	c.1949G>T	c.(1948-1950)gGg>gTg	p.G650V		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	650						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GAATCTTCCCCCAGACTTCCC	0.498													A	107977626	C	A	107977626	3	1	364	1	0	0	0	0	1	0	0	0	7900	623	22	4	1828	4	IRS4	23	107977626	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	480	107977626	47292934	15407	38909											
GUCY2F	2986	broad.mit.edu	37	chrX	108708437	108708437	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaaggcttgatagaaGgtcttttcttgggactccac	8	14	11	8	0	3	3	0	2	3	1	4	4	4	4	1	3	0	1	1	3	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108708437G>T	ENST00000218006.2	-	3	1257	c.966C>A	c.(964-966)acC>acA	p.T322T		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	322					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						CTTGATAGAAGGTCTTTTCTT	0.483													T	108708437	G	T	108708437	2	4	364	1	0	0	0	0	0	0	0	1	6953	987	35	4		4	GUCY2F	23	108708437	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	730811	108708437	46562123	15408	38910											
GUCY2F	2986	broad.mit.edu	37	chrX	108718910	108718910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actcaggtcaaaagatgggtCccggttgattcgctcaatgg	10	10	12	9	2	3	2	3	1	0	1	5	2	4	2	1	4	0	2	1	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108718910C>T	ENST00000218006.2	-	2	547	c.256G>A	c.(256-258)Gac>Aac	p.D86N		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	86					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						AAAGATGGGTCCCGGTTGATT	0.502											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	108718910	C	T	108718910	3	4	364	1	0	0	0	0	1	0	0	0	6953	855	30	2	3142	2	GUCY2F	23	108718910	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10473	108718910	46551650	15409	38911											
ACSL4	2182	broad.mit.edu	37	chrX	108917675	108917675	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagtacagtacagtctcCtttgcttccttttttaattt	7	20	4	10	0	2	0	1	0	1	0	4	0	3	0	2	0	3	3	2	0	3	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:108917675C>A	ENST00000340800.2	-	10	1585	c.1081G>T	c.(1081-1083)Gga>Tga	p.G361*	ACSL4_ENST00000469796.2_Nonsense_Mutation_p.G361*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G320*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	361					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	GTACAGTCTCCTTTGCTTCCT	0.308													A	108917675	C	A	108917675	4	1	364	1	0	0	0	0	0	1	0	0	179	690	24	4	1086	4	ACSL4	23	108917675	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	198765	108917675	46352885	15410	38912											
RGAG1	57529	broad.mit.edu	37	chrX	109694910	109694910	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactaatgacggccctaccCtctggagtgatgcccaccca	9	7	9	16	1	1	2	0	2	1	0	1	3	1	3	4	2	2	1	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109694910C>A	ENST00000465301.2	+	3	1311	c.1065C>A	c.(1063-1065)ccC>ccA	p.P355P	RGAG1_ENST00000540313.1_Silent_p.P355P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	355										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						CGGCCCTACCCTCTGGAGTGA	0.542													A	109694910	C	A	109694910	2	1	364	1	0	0	0	0	0	0	0	1	13362	668	24	4		4	RGAG1	23	109694910	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	777235	109694910	45575650	15411	38913											
RGAG1	57529	broad.mit.edu	37	chrX	109695589	109695589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccaccccactaatgacaGcccaaacctctggatcaaca	13	7	5	16	0	2	1	1	1	1	0	3	2	3	2	5	1	3	0	5	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109695589G>A	ENST00000465301.2	+	3	1990	c.1744G>A	c.(1744-1746)Gcc>Acc	p.A582T	RGAG1_ENST00000540313.1_Missense_Mutation_p.A582T	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	582										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ACTAATGACAGCCCAAACCTC	0.498													A	109695589	G	A	109695589	3	1	364	1	0	0	0	0	1	0	0	0	13362	971	34	2	1746	2	RGAG1	23	109695589	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	679	109695589	45574971	15412	38914											
CHRDL1	91851	broad.mit.edu	37	chrX	109924728	109924728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accctttcgaatagtccaaaCgtggacctctacctgaggtg	10	10	9	12	2	1	1	0	1	1	0	3	3	2	2	4	2	2	0	4	2	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:109924728C>T	ENST00000218054.4	-	10	1328	c.1132G>A	c.(1132-1134)Gtt>Att	p.V378I	CHRDL1_ENST00000372042.1_Missense_Mutation_p.V380I|CHRDL1_ENST00000394797.4_Missense_Mutation_p.V378I|CHRDL1_ENST00000372045.1_Missense_Mutation_p.V372I|CHRDL1_ENST00000434224.1_Missense_Mutation_p.V299I|CHRDL1_ENST00000444321.2_Missense_Mutation_p.V379I|CHRDL1_ENST00000482160.1_Missense_Mutation_p.V300I	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	372					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ATAGTCCAAACGTGGACCTCT	0.443													T	109924728	C	T	109924728	3	4	364	1	0	0	0	0	1	0	0	0	3403	536	19	1	250	1	CHRDL1	23	109924728	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	229139	109924728	45345832	15413	38915											
PAK3	5063	broad.mit.edu	37	chrX	110366334	110366334	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattagttgtaactgaaaatGtctgacggtctggataatga	14	13	10	4	1	2	3	0	3	2	0	2	4	2	4	0	2	1	2	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110366334G>A	ENST00000372007.5	+	5	394	c.3G>A	c.(1-3)atG>atA	p.M1I	PAK3_ENST00000446737.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000360648.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000425146.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000262836.4_Start_Codon_SNP_p.M1I|PAK3_ENST00000519681.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000417227.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000518291.1_Start_Codon_SNP_p.M1I|PAK3_ENST00000372010.1_Start_Codon_SNP_p.M1I	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3						multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACTGAAAATGTCTGACGGTC	0.428										TSP Lung(19;0.15)			A	110366334	G	A	110366334	1	1	364	1	0	0	0	0	0	0	0	0	11478	1377	48	2		2	PAK3	23	110366334	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	441606	110366334	44904226	15414	38916											
PAK3	5063	broad.mit.edu	37	chrX	110388120	110388120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacctctagacctgtgacGgtcgcttcaagtcaatcaga	11	9	9	12	2	4	4	3	1	1	3	5	4	4	4	2	1	0	1	2	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110388120G>A	ENST00000519681.1	+	7	751	c.309G>A	c.(307-309)acG>acA	p.T103T	PAK3_ENST00000446737.1_Intron|PAK3_ENST00000360648.4_Silent_p.T103T|PAK3_ENST00000425146.1_Intron|PAK3_ENST00000262836.4_Intron|PAK3_ENST00000372007.5_Intron|PAK3_ENST00000417227.1_Silent_p.T103T|PAK3_ENST00000518291.1_Silent_p.T103T|PAK3_ENST00000372010.1_Intron			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	95	Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GACCTGTGACGGTCGCTTCAA	0.368										TSP Lung(19;0.15)			A	110388120	G	A	110388120	2	1	364	1	0	0	0	0	0	0	0	1	11478	1103	39	1		1	PAK3	23	110388120	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	21786	110388120	44882440	15415	38917											
PAK3	5063	broad.mit.edu	37	chrX	110391030	110391030	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaattggaacagaagaaGaacccacaagctgttctaga	19	6	8	8	0	1	4	0	0	1	4	1	5	1	5	1	1	3	2	1	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110391030G>T	ENST00000372007.5	+	7	733	c.342G>T	c.(340-342)aaG>aaT	p.K114N	PAK3_ENST00000446737.1_Missense_Mutation_p.K114N|PAK3_ENST00000360648.4_Missense_Mutation_p.K150N|PAK3_ENST00000425146.1_Missense_Mutation_p.K114N|PAK3_ENST00000262836.4_Missense_Mutation_p.K129N|PAK3_ENST00000519681.1_Missense_Mutation_p.K135N|PAK3_ENST00000417227.1_Missense_Mutation_p.K135N|PAK3_ENST00000518291.1_Missense_Mutation_p.K150N|PAK3_ENST00000372010.1_Missense_Mutation_p.K129N	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Autoregulatory region (By similarity).|GTPase-binding (By similarity).|Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						AACAGAAGAAGAACCCACAAG	0.408										TSP Lung(19;0.15)			T	110391030	G	T	110391030	3	4	364	1	0	0	0	0	1	0	0	0	11478	933	33	4	468	4	PAK3	23	110391030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2910	110391030	44879530	15416	38918											
PAK3	5063	broad.mit.edu	37	chrX	110406218	110406218	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaggaagaagaagaaGaagatgaaaatgagccacca	22	3	12	4	0	0	9	0	3	0	6	0	10	0	10	2	1	1	0	2	1	8	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110406218G>T	ENST00000372007.5	+	9	935	c.544G>T	c.(544-546)Gaa>Taa	p.E182*	PAK3_ENST00000446737.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000360648.4_Nonsense_Mutation_p.E218*|PAK3_ENST00000425146.1_Nonsense_Mutation_p.E182*|PAK3_ENST00000262836.4_Nonsense_Mutation_p.E197*|PAK3_ENST00000519681.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000417227.1_Nonsense_Mutation_p.E203*|PAK3_ENST00000518291.1_Nonsense_Mutation_p.E218*|PAK3_ENST00000372010.1_Nonsense_Mutation_p.E197*	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3		Linker.				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	p.E182*(1)		breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						agaagaagaagaagatgaaAA	0.408										TSP Lung(19;0.15)			T	110406218	G	T	110406218	4	4	364	1	0	0	0	0	0	1	0	0	11478	943	33	4	678	4	PAK3	23	110406218	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	15188	110406218	44864342	15417	38919											
CAPN6	827	broad.mit.edu	37	chrX	110494308	110494308	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcagtttgtgaaagttgCggcaaaagtcctccaagctc	11	11	9	10	1	1	1	1	1	0	0	4	1	3	1	2	1	2	4	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110494308C>T	ENST00000324068.1	-	8	1162	c.995G>A	c.(994-996)cGc>cAc	p.R332H	CAPN6_ENST00000541758.1_Missense_Mutation_p.R77H	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	332	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding	p.R332L(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GTGAAAGTTGCGGCAAAAGTC	0.438													T	110494308	C	T	110494308	3	4	364	1	0	0	0	0	1	0	0	0	2656	768	27	1	954	1	CAPN6	23	110494308	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	88090	110494308	44776252	15418	38920											
DCX	1641	broad.mit.edu	37	chrX	110653599	110653599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctggatgtcttatctctttCgtcaaagtgtccaaaatcaa	11	14	6	10	1	4	0	2	0	2	0	7	1	5	1	2	1	0	0	2	1	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110653599C>T	ENST00000338081.3	-	2	442	c.271G>A	c.(271-273)Gaa>Aaa	p.E91K	DCX_ENST00000356220.3_Missense_Mutation_p.E10K|DCX_ENST00000488120.1_Missense_Mutation_p.E10K|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.E10K|DCX_ENST00000356915.2_Missense_Mutation_p.E10K	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	91					axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						TTATCTCTTTCGTCAAAGTGT	0.507													T	110653599	C	T	110653599	3	4	364	1	0	0	0	0	1	0	0	0	4352	893	31	1	1093	1	DCX	23	110653599	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	159291	110653599	44616961	15419	38921											
ALG13	79868	broad.mit.edu	37	chrX	110925385	110925385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgagagccttggttacaaccGacttatcctgcaaattggta	11	11	9	10	2	0	1	0	0	0	1	1	3	1	1	3	2	4	3	3	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110925385G>A	ENST00000394780.3	+	2	119	c.107G>A	c.(106-108)cGa>cAa	p.R36Q	ALG13_ENST00000251943.4_5'UTR|ALG13_ENST00000371979.3_Missense_Mutation_p.R36Q	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	36					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						GGTTACAACCGACTTATCCTG	0.438													A	110925385	G	A	110925385	3	1	364	1	0	0	0	0	1	0	0	0	515	1058	37	1	113	1	ALG13	23	110925385	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271786	110925385	44345175	15420	38922											
ALG13	79868	broad.mit.edu	37	chrX	110928326	110928326	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcatctcttctattgtacCtgcaggtatgctagagactg	8	14	10	9	0	3	1	1	0	2	1	4	2	3	1	1	2	3	4	1	2	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110928326C>A	ENST00000394780.3	+	3	390	c.378C>A	c.(376-378)acC>acA	p.T126T	ALG13_ENST00000251943.4_Silent_p.T22T|ALG13_ENST00000371979.3_Silent_p.T126T	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	126					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						TCTATTGTACCTGCAGGTATG	0.433													A	110928326	C	A	110928326	2	1	364	1	0	0	0	0	0	0	0	1	515	680	24	4		4	ALG13	23	110928326	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2941	110928326	44342234	15421	38923											
ALG13	79868	broad.mit.edu	37	chrX	110970862	110970862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatttagacgtagtcaccGccagatgagttgtgtgaata	11	13	10	7	2	2	4	2	2	0	2	2	4	2	4	2	0	0	2	2	0	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:110970862G>A	ENST00000394780.3	+	18	2123	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Missense_Mutation_p.R600H	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	704					dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						CGTAGTCACCGCCAGATGAGT	0.348													A	110970862	G	A	110970862	3	1	364	1	0	0	0	0	1	0	0	0	515	1087	38	1	2323	1	ALG13	23	110970862	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	42536	110970862	44299698	15422	38924											
TRPC5	7224	broad.mit.edu	37	chrX	111090401	111090401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgcagttgttaggctcatcGatagctctggtttcataata	9	16	9	7	1	3	0	2	0	1	0	4	1	3	0	0	2	2	6	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111090401G>A	ENST00000262839.2	-	6	2559	c.1641C>T	c.(1639-1641)atC>atT	p.I547I		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	547					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TAGGCTCATCGATAGCTCTGG	0.393													A	111090401	G	A	111090401	2	1	364	1	0	0	0	0	0	0	0	1	16683	1048	37	1		1	TRPC5	23	111090401	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	119539	111090401	44180159	15423	38925											
TRPC5	7224	broad.mit.edu	37	chrX	111195533	111195533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catagtcccccttctccacaGcattgaggaaggccttctcc	8	10	7	16	0	2	1	0	1	2	0	5	2	3	2	5	2	1	1	5	2	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195533G>A	ENST00000262839.2	-	2	1034	c.116C>T	c.(115-117)gCt>gTt	p.A39V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	39					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CTTCTCCACAGCATTGAGGAA	0.527													A	111195533	G	A	111195533	3	1	364	1	0	0	0	0	1	0	0	0	16683	971	34	2	2845	2	TRPC5	23	111195533	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	105132	111195533	44075027	15424	38926											
TRPC5	7224	broad.mit.edu	37	chrX	111195637	111195637	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagttgacctttttgtagtaCagttgggccatggttcatag	8	16	11	6	0	1	1	1	1	0	0	1	1	1	1	2	2	1	5	2	2	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111195637C>T	ENST00000262839.2	-	2	930	c.12G>A	c.(10-12)ctG>ctA	p.L4L		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	4					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						TTTTGTAGTACAGTTGGGCCA	0.483													T	111195637	C	T	111195637	2	4	364	1	0	0	0	0	0	0	0	1	16683	465	17	2		2	TRPC5	23	111195637	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	104	111195637	44074923	15425	38927											
LHFPL1	340596	broad.mit.edu	37	chrX	111914520	111914520	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccatctgggatccaaaGagccagtaaggtaggaagta	13	8	11	9	0	1	1	0	0	1	1	3	3	3	3	4	3	1	3	4	3	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:111914520G>T	ENST00000371968.3	-	2	338	c.99C>A	c.(97-99)ctC>ctA	p.L33L	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Silent_p.L33L	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	33						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GGGATCCAAAGAGCCAGTAAG	0.547													T	111914520	G	T	111914520	2	4	364	1	0	0	0	0	0	0	0	1	8824	929	33	4		4	LHFPL1	23	111914520	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	718883	111914520	43356040	15426	38928											
AMOT	154796	broad.mit.edu	37	chrX	112054488	112054488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctcacctctcagatccCtgttgaaatcatgcatcctc	8	13	4	16	0	3	2	3	1	1	1	8	2	6	2	4	0	1	2	4	0	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:112054488C>A	ENST00000371959.3	-	3	1525	c.1526G>T	c.(1525-1527)aGg>aTg	p.R509M	AMOT_ENST00000371958.1_Missense_Mutation_p.R277M|AMOT_ENST00000304758.1_Missense_Mutation_p.R100M|AMOT_ENST00000371962.1_Missense_Mutation_p.R277M|AMOT_ENST00000524145.1_Missense_Mutation_p.R509M	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	509					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.R100M(1)|p.R509M(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TCTCAGATCCCTGTTGAAATC	0.502													A	112054488	C	A	112054488	3	1	364	1	0	0	0	0	1	0	0	0	582	681	24	4	1764	4	AMOT	23	112054488	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	139968	112054488	43216072	15427	38929											
HTR2C	3358	broad.mit.edu	37	chrX	113961365	113961365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggtgaacctgaggaatgCggtgcattcattcctgtaag	10	11	12	8	1	1	2	1	2	0	0	2	3	2	3	2	3	3	2	2	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:113961365C>T	ENST00000276198.1	+	3	748	c.20C>T	c.(19-21)gCg>gTg	p.A7V	HTR2C_ENST00000371950.3_Missense_Mutation_p.A7V|HTR2C_ENST00000371951.1_Missense_Mutation_p.A7V	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	7					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	CTGAGGAATGCGGTGCATTCA	0.343													T	113961365	C	T	113961365	3	4	364	1	0	0	0	0	1	0	0	0	7501	768	27	1	22	1	HTR2C	23	113961365	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1906877	113961365	41309195	15428	38930											
SLC6A14	11254	broad.mit.edu	37	chrX	115569065	115569065	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctatctatgattggataCgcagtgggattaggaaatgt	11	14	11	5	1	2	1	0	1	2	0	2	4	2	4	0	3	1	1	0	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115569065C>T	ENST00000371900.4	+	2	244	c.156C>T	c.(154-156)taC>taT	p.Y52Y		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	52					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGATTGGATACGCAGTGGGAT	0.453													T	115569065	C	T	115569065	2	4	364	1	0	0	0	0	0	0	0	1	14771	547	19	1		1	SLC6A14	23	115569065	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1607700	115569065	39701495	15429	38931											
SLC6A14	11254	broad.mit.edu	37	chrX	115573909	115573909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgacaatctattacaatgTcataattgcctatagtcttt	12	17	5	7	0	3	1	1	1	2	0	3	1	3	1	1	0	2	0	1	0	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573909T>C	ENST00000371900.4	+	4	489	c.401T>C	c.(400-402)gTc>gCc	p.V134A		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	134					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TATTACAATGTCATAATTGCC	0.318													C	115573909	T	C	115573909	3	2	364	1	0	0	0	0	1	0	0	0	14771	1667	58	3	415	3	SLC6A14	23	115573909	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	4844	115573909	39696651	15430	38932											
SLC6A14	11254	broad.mit.edu	37	chrX	115573968	115573968	+	Frame_Shift_Del	DEL	A	A	-																															ttcaaagtgaactaccatggAaaaattgttcttcgtggtca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:115573968delA	ENST00000371900.4	+	4	548	c.460delA	c.(460-462)aaafs	p.K154fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	154					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	ACTACCATGGAAAAATTGTTC	0.308													-	115573968	A	-	115573968	7	5	364	1	0	1	0	1	0	0	0	0	14771	247	9	0	474	0	SLC6A14	23	115573968	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	59	115573968	39696592	15431	38933											
KLHL13	90293	broad.mit.edu	37	chrX	117033091	117033091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttattttcgaagacaGcgaccccaacatcactctgc	12	11	6	12	2	2	2	1	0	1	2	3	4	2	2	2	0	3	0	2	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117033091G>A	ENST00000371876.1	-	6	4016	c.1595C>T	c.(1594-1596)gCt>gTt	p.A532V	KLHL13_ENST00000540167.1_Missense_Mutation_p.A567V|KLHL13_ENST00000545703.1_Missense_Mutation_p.A541V|KLHL13_ENST00000371878.1_Missense_Mutation_p.A532V|KLHL13_ENST00000371882.1_Missense_Mutation_p.A532V|KLHL13_ENST00000262820.3_Missense_Mutation_p.A583V|KLHL13_ENST00000469946.1_Missense_Mutation_p.A532V|KLHL13_ENST00000539496.1_Missense_Mutation_p.A586V|KLHL13_ENST00000541812.1_Missense_Mutation_p.A567V			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	583					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCGAAGACAGCGACCCCAAC	0.418													A	117033091	G	A	117033091	3	1	364	1	0	0	0	0	1	0	0	0	8427	971	34	2	223	2	KLHL13	23	117033091	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1459123	117033091	38237469	15432	38934											
WDR44	54521	broad.mit.edu	37	chrX	117528036	117528036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttcccaaagagaatattaCgtctgattctctcctaaccg	12	12	6	11	2	2	2	0	1	2	1	5	3	4	2	3	0	2	1	3	0	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117528036C>T	ENST00000254029.3	+	5	1240	c.845C>T	c.(844-846)aCg>aTg	p.T282M	WDR44_ENST00000371825.3_Missense_Mutation_p.T282M|WDR44_ENST00000371822.5_Missense_Mutation_p.T257M	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	282						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GAGAATATTACGTCTGATTCT	0.383													T	117528036	C	T	117528036	3	4	364	1	0	0	0	0	1	0	0	0	17398	536	19	1	863	1	WDR44	23	117528036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	494945	117528036	37742524	15433	38935											
DOCK11	139818	broad.mit.edu	37	chrX	117718715	117718715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagacccattttcaaagataCtcaaggctctcttgatctgg	11	13	7	10	0	4	3	2	1	2	2	5	3	4	3	1	2	1	1	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117718715C>T	ENST00000276204.6	+	15	1687	c.1613C>T	c.(1612-1614)aCt>aTt	p.T538I	DOCK11_ENST00000276202.7_Missense_Mutation_p.T538I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	538					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TTCAAAGATACTCAAGGCTCT	0.338													T	117718715	C	T	117718715	3	4	364	1	0	0	0	0	1	0	0	0	4725	565	20	2	1671	2	DOCK11	23	117718715	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	190679	117718715	37551845	15434	38936											
DOCK11	139818	broad.mit.edu	37	chrX	117752685	117752685	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatttgacacaagataccaGcacaaggtaaggatatccat	16	8	8	9	0	0	2	0	1	0	1	1	3	1	3	2	2	2	3	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117752685G>A	ENST00000276204.6	+	31	3539	c.3465G>A	c.(3463-3465)caG>caA	p.Q1155Q	DOCK11_ENST00000276202.7_Silent_p.Q1155Q			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1155					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAAGATACCAGCACAAGGTAA	0.338													A	117752685	G	A	117752685	2	1	364	1	0	0	0	0	0	0	0	1	4725	962	34	2		2	DOCK11	23	117752685	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33970	117752685	37517875	15435	38937											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959637	117959637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacaagctcaaggggagAaagcctccctttatgtgatc	11	9	9	12	0	1	2	1	1	0	1	3	3	2	2	3	2	3	1	3	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:117959637A>G	ENST00000310164.2	+	4	937	c.430A>G	c.(430-432)Aaa>Gaa	p.K144E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	144					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						tcaaggggagaaagcctccct	0.483													G	117959637	A	G	117959637	3	3	364	1	0	0	0	0	1	0	0	0	17682	247	9	3	432	3	ZCCHC12	23	117959637	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	206952	117959637	37310923	15436	38938											
LONRF3	79836	broad.mit.edu	37	chrX	118147045	118147045	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagagatcagaaatgttcaaTtctttgctgatggccgctca	11	13	9	8	1	4	3	3	1	1	2	4	4	4	3	1	1	1	3	1	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118147045T>G	ENST00000304778.7	+	8	1895	c.1732T>G	c.(1732-1734)Ttc>Gtc	p.F578V	LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.F619V|LONRF3_ENST00000422289.2_Missense_Mutation_p.F363V	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	619	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						AAATGTTCAATTCTTTGCTGA	0.493													G	118147045	T	G	118147045	3	3	364	1	0	0	0	0	1	0	0	0	8966	1493	52	5	1889	5	LONRF3	23	118147045	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	187408	118147045	37123515	15437	38939											
KIAA1210	57481	broad.mit.edu	37	chrX	118227693	118227693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttggttatgctcttttcttCttcagaaaccaatggaaggt	9	17	8	7	0	4	1	1	0	3	1	4	2	4	2	1	3	2	2	1	3	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118227693C>T	ENST00000402510.2	-	10	1419	c.1420G>A	c.(1420-1422)Gaa>Aaa	p.E474K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	474										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						CTCTTTTCTTCTTCAGAAACC	0.443													T	118227693	C	T	118227693	3	4	364	1	0	0	0	0	1	0	0	0	8272	922	32	2	3729	2	KIAA1210	23	118227693	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80648	118227693	37042867	15438	38940											
KIAA1210	57481	broad.mit.edu	37	chrX	118242365	118242365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttgaagcacagctcctgAcatggctccagacacaactc	12	9	7	13	0	0	3	0	2	0	1	3	3	2	3	2	1	3	3	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118242365A>G	ENST00000402510.2	-	6	846	c.847T>C	c.(847-849)Tca>Cca	p.S283P		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	283										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						ACAGCTCCTGACATGGCTCCA	0.483													G	118242365	A	G	118242365	3	3	364	1	0	0	0	0	1	0	0	0	8272	275	10	3	4318	3	KIAA1210	23	118242365	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14672	118242365	37028195	15439	38941											
CXorf56	63932	broad.mit.edu	37	chrX	118694317	118694317	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atcacacgggaccggtcccgGggcctcatgggcaatttctc	7	8	12	14	3	3	0	2	0	1	0	5	1	4	1	3	5	0	1	3	5	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118694317G>T	ENST00000320339.4	-	2	280	c.9C>A	c.(7-9)ccC>ccA	p.P3P	CXorf56_ENST00000371594.4_Silent_p.P52P|CXorf56_ENST00000536133.1_Silent_p.P52P	NM_001170569.1	NP_001164040.1	Q9H5V9	CX056_HUMAN	chromosome X open reading frame 56	52							protein binding			cervix(1)|endometrium(2)|lung(7)	10						ACCGGTCCCGGGGCCTCATGG	0.458													T	118694317	G	T	118694317	2	4	364	1	0	0	0	0	0	0	0	1	4145	1219	43	4		4	CXorf56	23	118694317	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	451952	118694317	36576243	15440	38942											
NKRF	55922	broad.mit.edu	37	chrX	118723315	118723315	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaataaattagtaagatcTcaatttgcttgaggcataac	17	12	6	6	0	1	2	1	1	1	1	2	2	1	2	0	1	2	3	0	1	8	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118723315T>A	ENST00000371527.1	-	2	2725	c.2073A>T	c.(2071-2073)tgA>tgT	p.*691C	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Nonstop_Mutation_p.*691C|NKRF_ENST00000542113.1_Nonstop_Mutation_p.*706C	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	0					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						TAGTAAGATCTCAATTTGCTT	0.383													A	118723315	T	A	118723315	4	1	364	1	0	0	0	0	0	0	0	0	10523	1564	54	5	3	5	NKRF	23	118723315	Nonstop_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	28998	118723315	36547245	15441	38943											
NKRF	55922	broad.mit.edu	37	chrX	118724034	118724034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcgttcagcgtgcacaCgggatttgaagaattctcat	9	13	11	8	3	2	2	2	1	1	1	4	3	2	3	0	1	2	2	0	1	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:118724034C>T	ENST00000371527.1	-	2	2006	c.1354G>A	c.(1354-1356)Gtg>Atg	p.V452M	NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.V452M|NKRF_ENST00000542113.1_Missense_Mutation_p.V467M	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	452					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AGCGTGCACACGGGATTTGAA	0.423													T	118724034	C	T	118724034	3	4	364	1	0	0	0	0	1	0	0	0	10523	536	19	1	722	1	NKRF	23	118724034	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	719	118724034	36546526	15442	38944											
AKAP14	158798	broad.mit.edu	37	chrX	119048673	119048674	+	Frame_Shift_Ins	INS	-	-	A																															tgaaacagaagtgtgtttctINSaaaaaatgctgggcacatgg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119048673_119048674insA	ENST00000371431.3	+	5	547_548	c.273_274insA	c.(274-276)aaafs	p.K92fs	AKAP14_ENST00000371425.4_Intron|AKAP14_ENST00000334356.2_Intron|AKAP14_ENST00000371423.2_Intron	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	92						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AGTGTGTTTCTAAAAAATGCTG	0.401													A	119048674	-	A	119048673	7	5	364	1	0	1	1	0	0	0	0	0	450	1509	53	0	292	0	AKAP14	23	119048673	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	324639	119048673	36221887	15443	38945											
ZBTB33	10009	broad.mit.edu	37	chrX	119387918	119387918	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtaataacacagtggcacaGgtccaatctaacccaggccc	14	6	8	13	0	1	0	0	0	1	0	2	0	2	0	3	3	2	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119387918G>T	ENST00000326624.2	+	2	876	c.648G>T	c.(646-648)caG>caT	p.Q216H	ZBTB33_ENST00000557385.1_Missense_Mutation_p.Q216H	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	216					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						CAGTGGCACAGGTCCAATCTA	0.438													T	119387918	G	T	119387918	3	4	364	1	0	0	0	0	1	0	0	0	17637	991	35	4	650	4	ZBTB33	23	119387918	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	339245	119387918	35882642	15444	38946											
ATP1B4	23439	broad.mit.edu	37	chrX	119500594	119500594	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatcatgagtgaataccTgtgggatccagagagaagga	14	7	14	6	0	1	5	1	2	0	3	2	8	2	7	2	2	1	1	2	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119500594T>G	ENST00000218008.3	+	2	335	c.278T>G	c.(277-279)cTg>cGg	p.L93R	ATP1B4_ENST00000361319.3_Missense_Mutation_p.L93R|ATP1B4_ENST00000539306.1_Missense_Mutation_p.L93R	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	93					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						AGTGAATACCTGTGGGATCCA	0.498													G	119500594	T	G	119500594	3	3	364	1	0	0	0	0	1	0	0	0	1140	1580	55	5	284	5	ATP1B4	23	119500594	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	112676	119500594	35769966	15445	38947											
ATP1B4	23439	broad.mit.edu	37	chrX	119509350	119509350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taagcgctccttcctaaagaActgctctggtctggaggacc	9	10	10	12	1	2	1	0	0	2	1	4	3	4	3	3	3	3	2	3	3	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119509350A>G	ENST00000218008.3	+	5	743	c.686A>G	c.(685-687)aAc>aGc	p.N229S	ATP1B4_ENST00000361319.3_Missense_Mutation_p.N225S|ATP1B4_ENST00000539306.1_Missense_Mutation_p.N186S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	229					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						TTCCTAAAGAACTGCTCTGGT	0.478													G	119509350	A	G	119509350	3	3	364	1	0	0	0	0	1	0	0	0	1140	43	2	3	704	3	ATP1B4	23	119509350	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	8756	119509350	35761210	15446	38948											
CUL4B	8450	broad.mit.edu	37	chrX	119672534	119672534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgtttaagtttggacagCattgatttttcagcatctac	10	16	7	8	0	2	1	1	1	1	0	2	2	2	2	1	1	3	4	1	1	2	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119672534C>T	ENST00000371322.5	-	13	1894	c.1833G>A	c.(1831-1833)atG>atA	p.M611I	CUL4B_ENST00000404115.3_Missense_Mutation_p.M629I|CUL4B_ENST00000336592.6_Missense_Mutation_p.M616I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	629					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTTTGGACAGCATTGATTTTT	0.378													T	119672534	C	T	119672534	3	4	364	1	0	0	0	0	1	0	0	0	4091	710	25	2	886	2	CUL4B	23	119672534	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	163184	119672534	35598026	15447	38949											
CUL4B	8450	broad.mit.edu	37	chrX	119674287	119674287	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcaaatgcttctttcatgGcattgataaatttctcattc	10	19	4	8	0	4	1	3	1	2	0	6	1	4	1	0	1	1	2	0	1	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119674287G>T	ENST00000371322.5	-	11	1635	c.1574C>A	c.(1573-1575)gCc>gAc	p.A525D	CUL4B_ENST00000404115.3_Missense_Mutation_p.A543D|CUL4B_ENST00000336592.6_Missense_Mutation_p.A530D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	543					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TTCTTTCATGGCATTGATAAA	0.313													T	119674287	G	T	119674287	3	4	364	1	0	0	0	0	1	0	0	0	4091	1203	42	4	1153	4	CUL4B	23	119674287	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1753	119674287	35596273	15448	38950											
CUL4B	8450	broad.mit.edu	37	chrX	119678008	119678008	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttggccttcagctgcataGagccggttagtttcttccaa	7	15	9	10	1	2	1	1	0	1	1	3	1	3	1	3	2	3	4	3	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119678008G>A	ENST00000371322.5	-	7	1195	c.1134C>T	c.(1132-1134)ctC>ctT	p.L378L	CUL4B_ENST00000404115.3_Silent_p.L396L|CUL4B_ENST00000336592.6_Silent_p.L383L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	396					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGCTGCATAGAGCCGGTTAG	0.333													A	119678008	G	A	119678008	2	1	364	1	0	0	0	0	0	0	0	1	4091	929	33	2		2	CUL4B	23	119678008	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3721	119678008	35592552	15449	38951											
CUL4B	8450	broad.mit.edu	37	chrX	119693958	119693958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttaaagttcttgatcactAacttcttagcagagccaggt	11	14	7	9	0	3	2	1	1	2	1	3	2	3	2	1	1	3	2	1	1	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:119693958A>G	ENST00000371322.5	-	1	597	c.536T>C	c.(535-537)tTa>tCa	p.L179S	CUL4B_ENST00000404115.3_Missense_Mutation_p.L197S|CUL4B_ENST00000336592.6_Missense_Mutation_p.L184S	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	197	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTGATCACTAACTTCTTAGC	0.423													G	119693958	A	G	119693958	3	3	364	1	0	0	0	0	1	0	0	0	4091	372	13	3	2231	3	CUL4B	23	119693958	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	15950	119693958	35576602	15450	38952											
GRIA3	2892	broad.mit.edu	37	chrX	122536867	122536867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcaagtacaaggaatgactgGaaatattcaatttgacactt	16	11	8	6	0	1	2	1	2	0	0	1	4	1	4	0	2	1	2	0	2	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122536867G>A	ENST00000264357.5	+	8	1395	c.1103G>A	c.(1102-1104)gGa>gAa	p.G368E	GRIA3_ENST00000542149.1_Missense_Mutation_p.G368E|GRIA3_ENST00000371251.1_Missense_Mutation_p.G368E|GRIA3_ENST00000371256.5_Missense_Mutation_p.G368E|GRIA3_ENST00000541091.1_Missense_Mutation_p.G352E	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	368					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	GGAATGACTGGAAATATTCAA	0.373													A	122536867	G	A	122536867	3	1	364	1	0	0	0	0	1	0	0	0	6824	1174	41	2	1133	2	GRIA3	23	122536867	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2842909	122536867	32733693	15451	38953											
GRIA3	2892	broad.mit.edu	37	chrX	122538588	122538588	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgtaatgtacaagaagaaCcatgagcaactggaaggaaa	19	7	10	5	0	0	3	0	1	0	2	0	5	0	5	1	2	4	3	1	2	9	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122538588C>T	ENST00000264357.5	+	10	1615	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	GRIA3_ENST00000542149.1_Silent_p.N441N|GRIA3_ENST00000371251.1_Silent_p.N441N|GRIA3_ENST00000371256.5_Silent_p.N441N|GRIA3_ENST00000541091.1_Silent_p.N425N	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	441					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ACAAGAAGAACCATGAGCAAC	0.353													T	122538588	C	T	122538588	2	4	364	1	0	0	0	0	0	0	0	1	6824	506	18	2		2	GRIA3	23	122538588	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1721	122538588	32731972	15452	38954											
THOC2	57187	broad.mit.edu	37	chrX	122755386	122755387	+	Frame_Shift_Ins	INS	-	-	T																															ggagtcttttcttttttctcINStttttctttctctttccctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122755386_122755387insT	ENST00000245838.8	-	31	3868_3869	c.3837_3838insA	c.(3835-3840)aaagagfs	p.E1280fs	THOC2_ENST00000491737.1_Frame_Shift_Ins_p.E1165fs|THOC2_ENST00000355725.4_Frame_Shift_Ins_p.E1280fs	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1280	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						tcttttttctctttttctttct	0.322													T	122755387	-	T	122755386	7	5	364	1	0	1	1	0	0	0	0	0	15965	922	32	0	975	0	THOC2	23	122755386	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	216798	122755386	32515174	15453	38955											
THOC2	57187	broad.mit.edu	37	chrX	122757749	122757749	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacttttgggtaccaaggaAgtatttttgttagcacaatc	13	14	8	6	0	0	0	0	0	0	0	1	1	0	1	1	2	3	4	1	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122757749A>C	ENST00000245838.8	-	28	3423	c.3392T>G	c.(3391-3393)cTt>cGt	p.L1131R	THOC2_ENST00000491737.1_Missense_Mutation_p.L1016R|THOC2_ENST00000355725.4_Missense_Mutation_p.L1131R	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1131					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GTACCAAGGAAGTATTTTTGT	0.378													C	122757749	A	C	122757749	3	2	364	1	0	0	0	0	1	0	0	0	15965	72	3	5	1433	5	THOC2	23	122757749	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2363	122757749	32512811	15454	38956											
THOC2	57187	broad.mit.edu	37	chrX	122765688	122765688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaaaacccaccaaactgcaCcagggtatcatgacactaaa	18	6	5	12	0	1	1	1	1	0	0	1	1	1	1	3	1	3	2	3	1	7	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122765688C>T	ENST00000245838.8	-	22	2363	c.2332G>A	c.(2332-2334)Gtg>Atg	p.V778M	THOC2_ENST00000491737.1_Missense_Mutation_p.V663M|THOC2_ENST00000355725.4_Missense_Mutation_p.V778M	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	778					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						CCAAACTGCACCAGGGTATCA	0.313													T	122765688	C	T	122765688	3	4	364	1	0	0	0	0	1	0	0	0	15965	507	18	2	2517	2	THOC2	23	122765688	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	7939	122765688	32504872	15455	38957											
THOC2	57187	broad.mit.edu	37	chrX	122837343	122837343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaagaatggagggcatatCctcacgaaattcctaatttt	14	11	8	8	1	1	1	1	0	0	1	3	3	3	2	2	2	1	2	2	2	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:122837343C>T	ENST00000245838.8	-	4	266	c.235G>A	c.(235-237)Gat>Aat	p.D79N	THOC2_ENST00000355725.4_Missense_Mutation_p.D79N	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	79					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						GAGGGCATATCCTCACGAAAT	0.313													T	122837343	C	T	122837343	3	4	364	1	0	0	0	0	1	0	0	0	15965	855	30	2	4686	2	THOC2	23	122837343	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	71655	122837343	32433217	15456	38958											
XIAP	331	broad.mit.edu	37	chrX	123019851	123019851	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattctggtatccagaatggTcagtacaaagttgaaaacta	16	11	8	6	0	2	2	1	1	1	1	3	2	3	2	1	2	2	3	1	2	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123019851T>C	ENST00000371199.3	+	2	638	c.339T>C	c.(337-339)ggT>ggC	p.G113G	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Silent_p.G113G|XIAP_ENST00000355640.3_Silent_p.G113G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	113					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						TCCAGAATGGTCAGTACAAAG	0.418									X-linked Lymphoproliferative syndrome				C	123019851	T	C	123019851	2	2	364	1	0	0	0	0	0	0	0	1	17530	1654	58	3		3	XIAP	23	123019851	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	182508	123019851	32250709	15457	38959											
XIAP	331	broad.mit.edu	37	chrX	123025089	123025089	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcttttaattgtttaggTgcaaatatctgttagaacag	13	17	7	4	0	2	1	0	0	2	1	2	1	2	1	0	1	2	3	0	1	7	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123025089T>C	ENST00000371199.3	+	4	1278	c.979T>C	c.(979-981)Tgc>Cgc	p.C327R	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Splice_Site_p.C327R|XIAP_ENST00000355640.3_Splice_Site_p.C327R	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	327					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATTGTTTAGGTGCAAATATCT	0.259									X-linked Lymphoproliferative syndrome				C	123025089	T	C	123025089	5	2	364	1	0	0	0	0	0	0	1	0	17530	1710	59	3	989	3	XIAP	23	123025089	Splice_Site	SNP	T	TCGA-DU-6392-01A-11D-1705-08	5238	123025089	32245471	15458	38960											
STAG2	10735	broad.mit.edu	37	chrX	123185164	123185164	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttaatttttttgtccttaGgatagaattgtgtctatgac	9	21	7	4	0	1	2	0	1	1	1	2	3	2	3	1	1	0	0	1	1	5	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185164G>T	ENST00000371160.1	+	13	1406		c.e13-1		STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						tttGTCCTTAGGATAGAATTG	0.279													T	123185164	G	T	123185164	5	4	364	1	0	0	0	0	0	0	1	0	15339	1014	35	4	1158	4	STAG2	23	123185164	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	160075	123185164	32085396	15459	38961											
STAG2	10735	broad.mit.edu	37	chrX	123185184	123185184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatagaattgtgtctatgaCccttgacaaagaatatgatg	14	12	10	5	0	1	5	0	3	1	2	1	6	1	6	1	1	0	0	1	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:123185184C>T	ENST00000371160.1	+	13	1426	c.1136C>T	c.(1135-1137)aCc>aTc	p.T379I	STAG2_ENST00000354548.5_Missense_Mutation_p.T310I|STAG2_ENST00000371157.3_Missense_Mutation_p.T379I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.T379I|STAG2_ENST00000371144.3_Missense_Mutation_p.T379I|STAG2_ENST00000371145.3_Missense_Mutation_p.T379I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	379					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						GTGTCTATGACCCTTGACAAA	0.284													T	123185184	C	T	123185184	3	4	364	1	0	0	0	0	1	0	0	0	15339	507	18	2	1178	2	STAG2	23	123185184	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20	123185184	32085376	15460	38962											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685396	125685396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaagcctgagcttcctcCttgcaggtcccgaagaggac	9	7	12	13	1	0	2	0	1	0	1	3	4	3	3	4	3	3	3	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685396C>A	ENST00000371126.1	-	1	1438	c.1196G>T	c.(1195-1197)aGg>aTg	p.R399M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	399										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						GAGCTTCCTCCTTGCAGGTCC	0.577													A	125685396	C	A	125685396	3	1	364	1	0	0	0	0	1	0	0	0	4298	681	24	4	199	4	DCAF12L1	23	125685396	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2500212	125685396	29585164	15461	38963											
DCAF12L1	139170	broad.mit.edu	37	chrX	125685778	125685778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagttcctggttcttgcCgccgcaggccagggcccgca	4	8	12	17	3	1	0	0	0	1	0	3	0	3	0	6	3	1	4	6	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:125685778C>T	ENST00000371126.1	-	1	1056	c.814G>A	c.(814-816)Ggc>Agc	p.G272S		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	272										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						TGGTTCTTGCCGCCGCAGGCC	0.637													T	125685778	C	T	125685778	3	4	364	1	0	0	0	0	1	0	0	0	4298	652	23	1	581	1	DCAF12L1	23	125685778	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	382	125685778	29584782	15462	38964											
ACTRT1	139741	broad.mit.edu	37	chrX	127185265	127185265	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcctttcctccagcccaggGaggagagtggtgcccccgga	7	6	14	14	1	0	1	0	0	0	1	2	4	2	3	6	4	3	0	6	4	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:127185265G>A	ENST00000371124.3	-	1	1117	c.921C>T	c.(919-921)ctC>ctT	p.L307L		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	307						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCAGCCCAGGGAGGAGAGTGG	0.493													A	127185265	G	A	127185265	2	1	364	1	0	0	0	0	0	0	0	1	218	1161	41	2		2	ACTRT1	23	127185265	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1499487	127185265	28085295	15463	38965											
SMARCA1	6594	broad.mit.edu	37	chrX	128630769	128630769	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccatccagtcgacaataCtcataaccacgccacatgca	13	8	5	15	2	1	0	1	0	0	0	4	1	3	0	4	0	3	1	4	0	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128630769C>A	ENST00000371122.4	-	12	1713	c.1584G>T	c.(1582-1584)gaG>gaT	p.E528D	SMARCA1_ENST00000371121.3_Missense_Mutation_p.E528D|SMARCA1_ENST00000371123.1_Missense_Mutation_p.E528D	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	528	Helicase C-terminal.				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						GTCGACAATACTCATAACCAC	0.383													A	128630769	C	A	128630769	3	1	364	1	0	0	0	0	1	0	0	0	14862	564	20	4	1632	4	SMARCA1	23	128630769	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1445504	128630769	26639791	15464	38966											
OCRL	4952	broad.mit.edu	37	chrX	128692974	128692974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatgtcaacattcagactTtcaggttagtgtctcttttg	10	17	7	7	0	4	1	3	0	1	1	5	1	4	1	0	1	1	1	0	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128692974T>C	ENST00000371113.4	+	8	883	c.718T>C	c.(718-720)Ttc>Ctc	p.F240L	OCRL_ENST00000357121.5_Missense_Mutation_p.F240L	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	240					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CATTCAGACTTTCAGGTTAGT	0.398													C	128692974	T	C	128692974	3	2	364	1	0	0	0	0	1	0	0	0	10899	1841	64	3	748	3	OCRL	23	128692974	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	62205	128692974	26577586	15465	38967											
OCRL	4952	broad.mit.edu	37	chrX	128723882	128723882	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttacttgatggcattccttCgagaactcttaaaattctct	10	16	6	9	1	2	2	0	1	2	1	5	3	3	2	1	1	2	2	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:128723882C>T	ENST00000371113.4	+	23	2695	c.2530C>T	c.(2530-2532)Cga>Tga	p.R844*	OCRL_ENST00000357121.5_Nonsense_Mutation_p.R836*	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	844	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						GGCATTCCTTCGAGAACTCTT	0.423													T	128723882	C	T	128723882	4	4	364	1	0	0	0	0	0	1	0	0	10899	876	31	1	2620	1	OCRL	23	128723882	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	30908	128723882	26546678	15466	38968											
UTP14A	10813	broad.mit.edu	37	chrX	129053459	129053459	+	Frame_Shift_Del	DEL	G	G	-																															aagagagaagaaaatcaaaaGtaaaaagtaaggaggcccct																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129053459delG	ENST00000394422.3	+	8	774	c.746delG	c.(745-747)agtfs	p.S249fs	UTP14A_ENST00000425117.2_Frame_Shift_Del_p.S197fs|UTP14A_ENST00000371051.5_Frame_Shift_Del_p.S195fs|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371042.3_Frame_Shift_Del_p.S81fs	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	249					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						AAAATCAAAAGTAAAAAGTAA	0.478													-	129053459	G	-	129053459	7	5	364	1	0	1	0	1	0	0	0	0	17197	1029	36	0	776	0	UTP14A	23	129053459	Frame_Shift_Del	DEL	G	TCGA-DU-6392-01A-11D-1705-08	329577	129053459	26217101	15467	38969											
BCORL1	63035	broad.mit.edu	37	chrX	129139263	129139263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactggaccagttctgaccGgattcgcatgtgtggcatca	9	10	11	11	2	2	1	1	1	1	0	3	3	2	3	2	3	1	3	2	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129139263G>A	ENST00000540052.1	+	1	100	c.56G>A	c.(55-57)cGg>cAg	p.R19Q	BCORL1_ENST00000607874.1_3'UTR|BCORL1_ENST00000303743.5_Missense_Mutation_p.R19Q|BCORL1_ENST00000218147.7_Missense_Mutation_p.R19Q|BCORL1_ENST00000359304.2_Missense_Mutation_p.R19Q	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	19					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						AGTTCTGACCGGATTCGCATG	0.607													A	129139263	G	A	129139263	3	1	364	1	0	0	0	0	1	0	0	0	1392	1116	39	1	58	1	BCORL1	23	129139263	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	85804	129139263	26131297	15468	38970											
BCORL1	63035	broad.mit.edu	37	chrX	129184752	129184752	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cggtgtatcctgggatttttAcagcagttctgtgttgggta	6	16	13	6	1	1	0	0	0	1	0	2	1	2	1	1	3	2	5	1	3	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129184752A>G	ENST00000540052.1	+	10	4723	c.4679A>G	c.(4678-4680)tAc>tGc	p.Y1560C	BCORL1_ENST00000303743.5_Missense_Mutation_p.Y1634C|BCORL1_ENST00000218147.7_Missense_Mutation_p.Y1560C|BCORL1_ENST00000359304.2_Missense_Mutation_p.Y1430C	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1560					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TGGGATTTTTACAGCAGTTCT	0.502													G	129184752	A	G	129184752	3	3	364	1	0	0	0	0	1	0	0	0	1392	391	14	3	4943	3	BCORL1	23	129184752	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	45489	129184752	26085808	15469	38971											
ELF4	2000	broad.mit.edu	37	chrX	129205192	129205192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccaggaggaactcccacAgatagatggtgctgcctgca	11	6	13	11	0	0	2	0	0	0	2	1	5	1	4	3	3	5	2	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129205192A>G	ENST00000308167.5	-	7	1011	c.632T>C	c.(631-633)cTg>cCg	p.L211P	ELF4_ENST00000335997.7_Missense_Mutation_p.L211P	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	211					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACTCCCACAGATAGATGGT	0.617			T	ERG	AML								G	129205192	A	G	129205192	3	3	364	1	0	0	0	0	1	0	0	0	5097	188	7	3	1371	3	ELF4	23	129205192	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	20440	129205192	26065368	15470	38972											
ELF4	2000	broad.mit.edu	37	chrX	129208064	129208064	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcgctgggagactccatAttgagtaagacttccgcggt	10	11	11	9	3	0	3	0	1	0	2	3	4	2	3	2	2	0	2	2	2	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129208064A>G	ENST00000308167.5	-	4	679	c.300T>C	c.(298-300)aaT>aaC	p.N100N	ELF4_ENST00000335997.7_Silent_p.N100N	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	100	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGACTCCATATTGAGTAAGA	0.478			T	ERG	AML								G	129208064	A	G	129208064	2	3	364	1	0	0	0	0	0	0	0	1	5097	446	16	3		3	ELF4	23	129208064	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2872	129208064	26062496	15471	38973											
AIFM1	9131	broad.mit.edu	37	chrX	129265659	129265659	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactttcttacctgactgctCtgtggcagatttggggttgt	5	16	12	8	0	2	2	0	1	2	1	2	3	2	2	1	3	2	3	1	3	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129265659C>A	ENST00000287295.3	-	14	1794	c.1564G>T	c.(1564-1566)Gag>Tag	p.E522*	AIFM1_ENST00000460436.2_Nonsense_Mutation_p.E183*|AIFM1_ENST00000440263.1_Nonsense_Mutation_p.E170*|AIFM1_ENST00000535724.1_3'UTR|AIFM1_ENST00000319908.3_Nonsense_Mutation_p.E518*|AIFM1_ENST00000346424.2_Nonsense_Mutation_p.E235*	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	522					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						CCTGACTGCTCTGTGGCAGAT	0.488													A	129265659	C	A	129265659	4	1	364	1	0	0	0	0	0	1	0	0	426	922	32	4	289	4	AIFM1	23	129265659	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	57595	129265659	26004901	15472	38974											
AIFM1	9131	broad.mit.edu	37	chrX	129290550	129290550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatctggagttctagaGgaacatgccatcgctggaac	10	11	11	9	1	3	1	1	0	2	1	4	4	3	4	1	3	3	2	1	3	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129290550G>T	ENST00000287295.3	-	2	364	c.134C>A	c.(133-135)cCt>cAt	p.P45H	AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000319908.3_Intron|AIFM1_ENST00000346424.2_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	45					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						GAGTTCTAGAGGAACATGCCA	0.358													T	129290550	G	T	129290550	3	4	364	1	0	0	0	0	1	0	0	0	426	1000	35	4	1914	4	AIFM1	23	129290550	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	24891	129290550	25980010	15473	38975											
RAB33A	9363	broad.mit.edu	37	chrX	129318396	129318396	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accaacctcaaaatgtggatCcaagaatgcaatgggcatgc	15	7	9	10	0	1	1	1	0	0	1	2	2	2	2	3	2	3	2	3	2	6	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129318396C>A	ENST00000257017.4	+	2	810	c.396C>A	c.(394-396)atC>atA	p.I132I		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	132					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						AAATGTGGATCCAAGAATGCA	0.507													A	129318396	C	A	129318396	2	1	364	1	0	0	0	0	0	0	0	1	13010	845	30	4		4	RAB33A	23	129318396	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	27846	129318396	25952164	15474	38976											
ZNF280C	55609	broad.mit.edu	37	chrX	129370553	129370553	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtctttggtttttttggaGtaacactgtttactttagaa	8	20	9	4	0	1	1	0	0	1	1	1	2	1	2	0	3	2	3	0	3	4	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129370553G>T	ENST00000370978.4	-	7	707	c.554C>A	c.(553-555)aCt>aAt	p.T185N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	185	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TTTTTTTGGAGTAACACTGTT	0.343													T	129370553	G	T	129370553	3	4	364	1	0	0	0	0	1	0	0	0	17917	1029	36	4	1711	4	ZNF280C	23	129370553	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52157	129370553	25900007	15475	38977											
SLC25A14	9016	broad.mit.edu	37	chrX	129480618	129480618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatagagggatgttccatgcGctgtttcgcatctgtaaaga	10	13	11	7	2	1	2	0	0	1	2	3	3	2	3	1	1	1	5	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129480618G>A	ENST00000543953.1	+	3	214	c.165G>A	c.(163-165)gcG>gcA	p.A55A	SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000361980.5_Silent_p.A87A			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90			E -> A (in dbSNP:rs2143598).		aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													A	129480618	G	A	129480618	2	1	364	1	0	0	0	0	0	0	0	1	14570	1074	38	1		1	SLC25A14	23	129480618	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	110065	129480618	25789942	15476	38978											
SLC25A14	9016	broad.mit.edu	37	chrX	129492622	129492622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcattttagattcgaatGcaggctcaaggaagcttgtt	10	16	9	6	1	2	1	2	0	0	1	3	3	2	2	0	2	2	4	0	2	4	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129492622G>A	ENST00000543953.1	+	6	451	c.402G>A	c.(400-402)atG>atA	p.M134I	SLC25A14_ENST00000545805.1_Missense_Mutation_p.M169I|SLC25A14_ENST00000218197.5_Missense_Mutation_p.M169I|SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Missense_Mutation_p.M166I|SLC25A14_ENST00000361980.5_Missense_Mutation_p.M166I			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	169					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						AGATTCGAATGCAGGCTCAAG	0.358													A	129492622	G	A	129492622	3	1	364	1	0	0	0	0	1	0	0	0	14570	1319	46	2	529	2	SLC25A14	23	129492622	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12004	129492622	25777938	15477	38979											
SLC25A14	9016	broad.mit.edu	37	chrX	129499620	129499620	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgggacatgtggatctCtataagggcactgttgatgg	9	12	14	6	1	1	1	0	1	1	0	3	3	1	3	0	4	0	2	0	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129499620C>A	ENST00000218197.5	+	8	1052	c.825C>A	c.(823-825)ctC>ctA	p.L275L	SLC25A14_ENST00000467496.1_3'UTR|SLC25A14_ENST00000339231.3_Silent_p.L303L|SLC25A14_ENST00000543953.1_3'UTR|SLC25A14_ENST00000361980.5_Silent_p.L272L	NM_001282195.1|NM_001282196.1|NM_001282198.1	NP_001269124.1|NP_001269125.1|NP_001269127.1	O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	275					aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						ATGTGGATCTCTATAAGGGCA	0.453													A	129499620	C	A	129499620	2	1	364	1	0	0	0	0	0	0	0	1	14570	900	32	4		4	SLC25A14	23	129499620	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6998	129499620	25770940	15478	38980											
RBMX2	51634	broad.mit.edu	37	chrX	129546780	129546780	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaagggcccgacgctcccgGgagcgggagtcttcgaatcc	9	5	14	13	5	1	0	0	0	1	0	4	4	3	2	3	3	1	1	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129546780G>T	ENST00000305536.6	+	6	991	c.927G>T	c.(925-927)cgG>cgT	p.R309R		NM_016024.2	NP_057108.2	Q9Y388	RBMX2_HUMAN	RNA binding motif protein, X-linked 2	309	Arg-rich.			SSDAHSSWYNGRSEGRSYRSRSRSRDKSHRHKRARRSRERE SSNPSDRWRH -> LQMHILAGIMGVLKGVVIEVEVGAEIN PIGIKGPDAPGRGVLRIPVTVGVTEDFSCTVDLEIIMFFKC SQIQLGGYYFCI (in Ref. 1; AAD34074).			nucleotide binding|RNA binding			breast(4)|endometrium(2)|large_intestine(1)|liver(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	19						GACGCTCCCGGGAGCGGGAGT	0.458													T	129546780	G	T	129546780	2	4	364	1	0	0	0	0	0	0	0	1	13240	1219	43	4		4	RBMX2	23	129546780	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	47160	129546780	25723780	15479	38981											
ENOX2	10495	broad.mit.edu	37	chrX	129765465	129765465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcagtgcttcacgttcaGatttgataggactgctgttc	8	14	10	9	1	2	2	2	1	0	1	3	3	2	3	0	1	3	5	0	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:129765465G>T	ENST00000338144.3	-	14	2009	c.1592C>A	c.(1591-1593)tCt>tAt	p.S531Y	ENOX2_ENST00000370927.1_Missense_Mutation_p.S531Y|ENOX2_ENST00000370935.1_Missense_Mutation_p.S502Y|ENOX2_ENST00000394363.1_Missense_Mutation_p.S502Y	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	531					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						TTCACGTTCAGATTTGATAGG	0.478													T	129765465	G	T	129765465	3	4	364	1	0	0	0	0	1	0	0	0	5168	942	33	4	252	4	ENOX2	23	129765465	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	218685	129765465	25505095	15480	38982											
ARHGAP36	158763	broad.mit.edu	37	chrX	130219946	130219947	+	Frame_Shift_Ins	INS	-	-	A																															tgtttggatctgctctcctgINSaaaaaaggaaagtttggcaa																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:130219946_130219947insA	ENST00000276211.5	+	9	1509_1510	c.1164_1165insA	c.(1165-1167)aaafs	p.K389fs	ARHGAP36_ENST00000370922.1_Frame_Shift_Ins_p.K377fs|ARHGAP36_ENST00000370921.1_Frame_Shift_Ins_p.K253fs	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	389	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						CTGCTCTCCTGAAAAAAGGAAA	0.465													A	130219947	-	A	130219946	7	5	364	1	0	1	1	0	0	0	0	0	886	1277	45	0	1194	0	ARHGAP36	23	130219946	Frame_Shift_Ins	INS	-	TCGA-DU-6392-01A-11D-1705-08	454481	130219946	25050614	15481	38983											
FRMD7	90167	broad.mit.edu	37	chrX	131228096	131228096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatgtgagataccatcaacGctgtacagttgtcactgcat	12	11	9	9	1	2	2	2	1	0	2	2	3	2	2	1	0	4	4	1	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131228096G>A	ENST00000298542.4	-	5	531	c.356C>T	c.(355-357)gCg>gTg	p.A119V	FRMD7_ENST00000464296.1_Missense_Mutation_p.A104V|FRMD7_ENST00000370879.1_5'UTR	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	119	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TACCATCAACGCTGTACAGTT	0.443													A	131228096	G	A	131228096	3	1	364	1	0	0	0	0	1	0	0	0	6107	1087	38	1	1820	1	FRMD7	23	131228096	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1008150	131228096	24042464	15482	38984											
RAP2C	57826	broad.mit.edu	37	chrX	131348449	131348449	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catatctcttcactctgacaAtttgatctctcattggcttg	8	17	5	11	0	5	2	2	2	3	0	7	2	5	2	0	1	0	1	0	1	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131348449A>G	ENST00000342983.2	-	3	1045	c.299T>C	c.(298-300)aTt>aCt	p.I100T	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.I100T	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	100					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					CACTCTGACAATTTGATCTCT	0.348													G	131348449	A	G	131348449	3	3	364	1	0	0	0	0	1	0	0	0	13130	101	4	3	256	3	RAP2C	23	131348449	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	120353	131348449	23922111	15483	38985											
RAP2C	57826	broad.mit.edu	37	chrX	131351031	131351031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtttggttacctgaaaaGactgttgattaaccaggcta	11	14	10	6	0	0	3	0	2	0	1	0	3	0	3	2	3	2	4	2	3	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131351031G>A	ENST00000342983.2	-	2	1012	c.266C>T	c.(265-267)tCt>tTt	p.S89F	RAP2C_ENST00000460462.1_5'UTR|RAP2C_ENST00000370874.1_Missense_Mutation_p.S89F	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	89					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TACCTGAAAAGACTGTTGATT	0.458													A	131351031	G	A	131351031	3	1	364	1	0	0	0	0	1	0	0	0	13130	942	33	2	293	2	RAP2C	23	131351031	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2582	131351031	23919529	15484	38986											
MBNL3	55796	broad.mit.edu	37	chrX	131540345	131540345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgaatcagattgttccGcccattaatctccagctgcg	8	13	8	12	2	2	2	1	1	1	1	4	2	3	2	3	0	2	3	3	0	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:131540345G>A	ENST00000538204.1	-	2	168	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	MBNL3_ENST00000370853.3_Missense_Mutation_p.R85W|MBNL3_ENST00000370849.3_Missense_Mutation_p.R35W|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370844.1_5'UTR|MBNL3_ENST00000370857.3_Missense_Mutation_p.R85W|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000394311.2_5'UTR|MBNL3_ENST00000370839.3_Missense_Mutation_p.R85W|RAP2C-AS1_ENST00000421483.2_RNA	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	85					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AGATTGTTCCGCCCATTAATC	0.483													A	131540345	G	A	131540345	3	1	364	1	0	0	0	0	1	0	0	0	9430	1086	38	1	900	1	MBNL3	23	131540345	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	189314	131540345	23730215	15485	38987											
HS6ST2	90161	broad.mit.edu	37	chrX	132092321	132092321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggagcccaggtcccagcGtcgcctgaggacgtgcatcc	7	5	15	14	3	0	1	0	1	0	0	3	4	2	3	4	3	3	1	4	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092321G>A	ENST00000370836.2	-	2	725	c.310C>T	c.(310-312)Cgc>Tgc	p.R104C	HS6ST2_ENST00000521489.1_Missense_Mutation_p.R104C	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	104						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					AGGTCCCAGCGTCGCCTGAGG	0.721													A	132092321	G	A	132092321	3	1	364	1	0	0	0	0	1	0	0	0	7426	1145	40	1		1	HS6ST2	23	132092321	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	551976	132092321	23178239	15486	38988											
HS6ST2	90161	broad.mit.edu	37	chrX	132092388	132092388	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaaaagcggggcgcacgcGgctcccgccagggaagaaga	11	1	17	12	6	0	2	0	0	0	2	1	4	1	3	2	4	1	2	2	4	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132092388G>A	ENST00000370836.2	-	2	658	c.243C>T	c.(241-243)gcC>gcT	p.A81A	HS6ST2_ENST00000521489.1_Silent_p.A81A	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	81						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GGGCGCACGCGGCTCCCGCCA	0.726													A	132092388	G	A	132092388	2	1	364	1	0	0	0	0	0	0	0	1	7426	1103	39	1		1	HS6ST2	23	132092388	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	67	132092388	23178172	15487	38989											
USP26	83844	broad.mit.edu	37	chrX	132160551	132160551	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataattggaaatctgtaatTtctccatcctcactcaaggg	13	13	6	9	0	4	0	2	0	2	0	6	1	5	1	2	2	0	1	2	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132160551T>C	ENST00000511190.1	-	6	2167	c.1698A>G	c.(1696-1698)gaA>gaG	p.E566E	USP26_ENST00000406273.1_Silent_p.E566E|USP26_ENST00000370832.1_Silent_p.E566E	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	566					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AATCTGTAATTTCTCCATCCT	0.393													C	132160551	T	C	132160551	2	2	364	1	0	0	0	0	0	0	0	1	17159	1838	64	3		3	USP26	23	132160551	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	68163	132160551	23110009	15488	38990											
USP26	83844	broad.mit.edu	37	chrX	132161017	132161017	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggaaaattatcttccccaAattcacttttaggcttccaa	13	14	4	10	0	2	0	1	0	1	0	4	1	4	1	3	2	0	1	3	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161017A>G	ENST00000511190.1	-	6	1701	c.1232T>C	c.(1231-1233)tTt>tCt	p.F411S	USP26_ENST00000406273.1_Missense_Mutation_p.F411S|USP26_ENST00000370832.1_Missense_Mutation_p.F411S	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	411					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCCCCAAATTCACTTTT	0.373													G	132161017	A	G	132161017	3	3	364	1	0	0	0	0	1	0	0	0	17159	14	1	3	1512	3	USP26	23	132161017	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	466	132161017	23109543	15489	38991											
USP26	83844	broad.mit.edu	37	chrX	132161316	132161316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggattgaaagtagagaCtgtaacactgcattcatata	15	11	10	5	0	1	2	1	1	0	1	1	5	1	3	0	1	2	3	0	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132161316C>A	ENST00000511190.1	-	6	1402	c.933G>T	c.(931-933)caG>caT	p.Q311H	USP26_ENST00000406273.1_Missense_Mutation_p.Q311H|USP26_ENST00000370832.1_Missense_Mutation_p.Q311H	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	311					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AAAGTAGAGACTGTAACACTG	0.393													A	132161316	C	A	132161316	3	1	364	1	0	0	0	0	1	0	0	0	17159	564	20	4	1811	4	USP26	23	132161316	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	299	132161316	23109244	15490	38992											
TFDP3	51270	broad.mit.edu	37	chrX	132351436	132351436	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcgtggatttcaaaggaGctgttaaacttaaacagata	15	12	8	6	1	2	1	2	0	0	1	3	3	2	3	0	2	3	2	0	2	6	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351436G>A	ENST00000310125.4	-	1	940	c.852C>T	c.(850-852)agC>agT	p.S284S		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	284	DCB2 (By similarity).|Involved in negatively regulating E2F activity.					transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					TTTCAAAGGAGCTGTTAAACT	0.478													A	132351436	G	A	132351436	2	1	364	1	0	0	0	0	0	0	0	1	15899	962	34	2		2	TFDP3	23	132351436	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	190120	132351436	22919124	15491	38993											
TFDP3	51270	broad.mit.edu	37	chrX	132351787	132351787	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccatcagcacgtttaaGgcatcgtaggtgcgccgttt	8	11	12	10	4	1	0	1	0	0	0	2	0	1	0	2	3	2	5	2	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132351787G>T	ENST00000310125.4	-	1	589	c.501C>A	c.(499-501)gcC>gcA	p.A167A		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	167						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					GCACGTTTAAGGCATCGTAGG	0.502													T	132351787	G	T	132351787	2	4	364	1	0	0	0	0	0	0	0	1	15899	987	35	4		4	TFDP3	23	132351787	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	351	132351787	22918773	15492	38994											
GPC3	2719	broad.mit.edu	37	chrX	132887606	132887606	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctccatgtcatagattCtgtacatgccattcacaagt	10	14	6	11	1	4	1	2	0	2	1	5	1	4	1	2	0	2	2	2	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:132887606C>A	ENST00000370818.3	-	3	1380	c.935G>T	c.(934-936)aGa>aTa	p.R312I	GPC3_ENST00000394299.2_Missense_Mutation_p.R312I|GPC3_ENST00000543339.1_Missense_Mutation_p.R258I	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	312						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					GTCATAGATTCTGTACATGCC	0.443			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				A	132887606	C	A	132887606	3	1	364	1	0	0	0	0	1	0	0	0	6653	913	32	4	904	4	GPC3	23	132887606	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	535819	132887606	22382954	15493	38995											
CCDC160	347475	broad.mit.edu	37	chrX	133379664	133379664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaaagatccgcggagagctCagtgtcatcaagaatgaact	14	7	11	9	2	3	4	3	1	0	3	4	5	4	4	1	1	2	2	1	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133379664C>T	ENST00000517294.1	+	3	1217	c.834C>T	c.(832-834)ctC>ctT	p.L278L	CCDC160_ENST00000370809.4_Silent_p.L278L			A6NGH7	CC160_HUMAN	coiled-coil domain containing 160	278										endometrium(1)|kidney(2)|large_intestine(10)|lung(2)|prostate(1)|skin(1)	17						GCGGAGAGCTCAGTGTCATCA	0.378													T	133379664	C	T	133379664	2	4	364	1	0	0	0	0	0	0	0	1	2819	813	29	2		2	CCDC160	23	133379664	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	492058	133379664	21890896	15494	38996											
FAM122B	159090	broad.mit.edu	37	chrX	133919928	133919928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacataccttttcttttaaGaggaccaagaacactgggtc	12	12	7	10	0	1	2	0	0	1	2	2	3	1	3	2	2	3	0	2	2	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:133919928G>T	ENST00000370790.1	-	7	1418	c.490C>A	c.(490-492)Ctt>Att	p.L164I	FAM122B_ENST00000493333.1_5'UTR|FAM122B_ENST00000343004.5_Missense_Mutation_p.L183I|FAM122B_ENST00000298090.6_Missense_Mutation_p.L183I|FAM122B_ENST00000486347.1_Missense_Mutation_p.L165I	NM_001166599.2|NM_145284.5	NP_001160071.1|NP_660327.2	Q7Z309	F122B_HUMAN	family with sequence similarity 122B	164										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|skin(1)	6	Acute lymphoblastic leukemia(192;0.000127)					TTTCTTTTAAGAGGACCAAGA	0.393													T	133919928	G	T	133919928	3	4	364	1	0	0	0	0	1	0	0	0	5465	942	33	4	339	4	FAM122B	23	133919928	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	540264	133919928	21350632	15495	38997											
MOSPD1	56180	broad.mit.edu	37	chrX	134033182	134033182	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacaacatacttatttggAgtagtacacaaaactgaaag	18	9	7	7	1	0	1	0	1	0	0	0	3	0	2	0	1	4	2	0	1	8	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134033182A>T	ENST00000370783.3	-	3	354	c.168T>A	c.(166-168)acT>acA	p.T56T	MOSPD1_ENST00000370779.4_Silent_p.T56T|MOSPD1_ENST00000370777.1_Silent_p.T56T|MOSPD1_ENST00000491609.1_Intron	NM_019556.1	NP_062456.1	Q9UJG1	MSPD1_HUMAN	motile sperm domain containing 1	56	MSP.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	integral to membrane|nucleus|perinuclear region of cytoplasm	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(1)|ovary(1)	9	Acute lymphoblastic leukemia(192;0.000127)					ACTTATTTGGAGTAGTACACA	0.338													T	134033182	A	T	134033182	2	4	364	1	0	0	0	0	0	0	0	1	9791	291	11	5		5	MOSPD1	23	134033182	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	113254	134033182	21237378	15496	38998											
CXorf48	54967	broad.mit.edu	37	chrX	134305083	134305083	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggccaaagcaagtctcaGaagcctgagcatcgtcccag	13	5	11	12	1	1	2	1	1	1	1	4	3	2	2	3	1	3	2	3	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134305083G>T	ENST00000344129.2	-	1	239	c.13C>A	c.(13-15)Ctg>Atg	p.L5M	CXorf48_ENST00000276241.6_Missense_Mutation_p.L5M	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	5										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					GCAAGTCTCAGAAGCCTGAGC	0.632													T	134305083	G	T	134305083	3	4	364	1	0	0	0	0	1	0	0	0	4144	933	33	4	809	4	CXorf48	23	134305083	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	271901	134305083	20965477	15497	38999											
ZNF75D	7626	broad.mit.edu	37	chrX	134421643	134421643	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacactgtgtgtatcaccaGgattttccctgcccattgtt	7	15	8	11	0	1	0	1	0	0	0	2	1	2	1	3	1	2	3	3	1	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421643G>T	ENST00000370766.3	-	7	3668	c.959C>A	c.(958-960)cCt>cAt	p.P320H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P225H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	320					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						TGTATCACCAGGATTTTCCCT	0.383													T	134421643	G	T	134421643	3	4	364	1	0	0	0	0	1	0	0	0	18234	1000	35	4	577	4	ZNF75D	23	134421643	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	116560	134421643	20848917	15498	39000											
ZNF75D	7626	broad.mit.edu	37	chrX	134421742	134421742	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgtagaaacagatataGgatgatcatttccagtgtca	14	12	9	6	0	2	4	2	2	0	2	3	5	3	5	1	1	1	1	1	1	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134421742G>T	ENST00000370766.3	-	7	3569	c.860C>A	c.(859-861)cCt>cAt	p.P287H	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.P192H	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	287	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AACAGATATAGGATGATCATT	0.363													T	134421742	G	T	134421742	3	4	364	1	0	0	0	0	1	0	0	0	18234	1000	35	4	676	4	ZNF75D	23	134421742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	99	134421742	20848818	15499	39001											
ZNF75D	7626	broad.mit.edu	37	chrX	134424994	134424994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattgtagagagtcttctcaAgaggattcaataattgccac	13	12	8	8	0	3	2	2	0	2	2	4	4	3	3	1	1	1	1	1	1	4	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134424994A>G	ENST00000370766.3	-	6	3473	c.764T>C	c.(763-765)cTt>cCt	p.L255P	ZNF75D_ENST00000494295.1_Intron|ZNF75D_ENST00000370764.1_Missense_Mutation_p.L160P	NM_007131.3	NP_009062.2	P51815	ZN75D_HUMAN	zinc finger protein 75D	255	KRAB.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(2)	31						AGTCTTCTCAAGAGGATTCAA	0.358													G	134424994	A	G	134424994	3	3	364	1	0	0	0	0	1	0	0	0	18234	72	3	3	776	3	ZNF75D	23	134424994	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	3252	134424994	20845566	15500	39002											
ZNF449	203523	broad.mit.edu	37	chrX	134494386	134494386	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaccctaaaccccacaaGaaaaagagtccaggagagaa	19	3	7	12	0	1	3	1	0	0	3	2	5	2	4	4	1	2	0	4	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134494386G>T	ENST00000339249.4	+	5	1082	c.942G>T	c.(940-942)aaG>aaT	p.K314N		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	314					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCCACAAGAAAAAGAGTC	0.468													T	134494386	G	T	134494386	3	4	364	1	0	0	0	0	1	0	0	0	18021	933	33	4	956	4	ZNF449	23	134494386	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69392	134494386	20776174	15501	39003											
DDX26B	203522	broad.mit.edu	37	chrX	134681061	134681061	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttccttctgggataGgtcgctcctactgtgtgaga	6	17	10	8	1	1	1	0	1	1	1	4	3	3	2	2	2	1	1	2	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134681061G>A	ENST00000370752.4	+	6	947		c.e6-1		DDX26B_ENST00000481908.1_Splice_Site	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B											large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGGGATAGGTCGCTCCTA	0.274													A	134681061	G	A	134681061	5	1	364	1	0	0	0	0	0	0	1	0	4387	1014	35	2	635	2	DDX26B	23	134681061	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	186675	134681061	20589499	15502	39004											
DDX26B	203522	broad.mit.edu	37	chrX	134707898	134707898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatacagaaatgcttatgAtattccccgtagaggtcttt	12	13	8	8	1	1	3	0	1	1	2	2	4	2	3	2	1	2	2	2	1	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134707898A>G	ENST00000370752.4	+	12	1875	c.1541A>G	c.(1540-1542)gAt>gGt	p.D514G	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	514										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AATGCTTATGATATTCCCCGT	0.338													G	134707898	A	G	134707898	3	3	364	1	0	0	0	0	1	0	0	0	4387	333	12	3	1587	3	DDX26B	23	134707898	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	26837	134707898	20562662	15503	39005											
DDX26B	203522	broad.mit.edu	37	chrX	134711196	134711196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtccaggggaacccaacagtCctatgtcatctaagagaagg	13	7	11	10	0	2	1	1	0	1	1	4	3	4	2	3	3	2	0	3	3	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711196C>T	ENST00000370752.4	+	14	2186	c.1852C>T	c.(1852-1854)Cct>Tct	p.P618S	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	618										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCAACAGTCCTATGTCATC	0.468													T	134711196	C	T	134711196	3	4	364	1	0	0	0	0	1	0	0	0	4387	855	30	2	1906	2	DDX26B	23	134711196	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3298	134711196	20559364	15504	39006											
DDX26B	203522	broad.mit.edu	37	chrX	134711350	134711350	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacccacccttgtacataCaggtatagagtagtggttgt	13	11	9	8	0	0	1	0	0	0	1	0	1	0	1	2	2	3	4	2	2	7	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134711350C>T	ENST00000370752.4	+	14	2340	c.2006C>T	c.(2005-2007)aCa>aTa	p.T669I	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	669										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGTACATACAGGTATAGAG	0.443													T	134711350	C	T	134711350	3	4	364	1	0	0	0	0	1	0	0	0	4387	478	17	2	2060	2	DDX26B	23	134711350	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	154	134711350	20559210	15505	39007											
SAGE1	55511	broad.mit.edu	37	chrX	134989494	134989494	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgtccctcacaatgtCtgtgaagagaagatggaaaa	14	8	9	10	1	2	3	1	1	1	2	4	5	4	4	3	1	0	0	3	1	5	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:134989494C>A	ENST00000535938.1	+	9	1067	c.900C>A	c.(898-900)gtC>gtA	p.V300V	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Silent_p.V300V|SAGE1_ENST00000370709.3_Silent_p.V300V	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	300										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CTCACAATGTCTGTGAAGAGA	0.438													A	134989494	C	A	134989494	2	1	364	1	0	0	0	0	0	0	0	1	13900	900	32	4		4	SAGE1	23	134989494	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	278144	134989494	20281066	15506	39008											
SLC9A6	10479	broad.mit.edu	37	chrX	135067917	135067917	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctcaccctcaccattCtcacaatctggctcttcaag	8	12	5	16	0	6	0	4	0	3	0	7	0	6	0	2	1	2	3	2	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135067917C>A	ENST00000370695.4	+	1	291	c.256C>A	c.(256-258)Ctc>Atc	p.L86I	SLC9A6_ENST00000370701.1_Missense_Mutation_p.L34I|SLC9A6_ENST00000370698.3_Missense_Mutation_p.L86I	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	86					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CCTCACCATTCTCACAATCTG	0.592													A	135067917	C	A	135067917	3	1	364	1	0	0	0	0	1	0	0	0	14812	913	32	4	258	4	SLC9A6	23	135067917	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78423	135067917	20202643	15507	39009											
MAP7D3	79649	broad.mit.edu	37	chrX	135314090	135314090	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacaggcgacacgtccacGctcaccacagggaatgagtc	12	4	10	15	3	1	1	1	1	0	0	3	3	2	2	3	2	0	1	3	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314090G>A	ENST00000316077.9	-	8	1246	c.1026C>T	c.(1024-1026)agC>agT	p.S342S	MAP7D3_ENST00000370663.5_Silent_p.S324S|MAP7D3_ENST00000370661.1_Silent_p.S307S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	342						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					ACACGTCCACGCTCACCACAG	0.562													A	135314090	G	A	135314090	2	1	364	1	0	0	0	0	0	0	0	1	9344	1078	38	1		1	MAP7D3	23	135314090	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	246173	135314090	19956470	15508	39010											
MAP7D3	79649	broad.mit.edu	37	chrX	135314193	135314193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatacttccacattcaccTgggggggtgcatccacactt	10	10	9	12	0	1	1	1	0	0	1	3	1	3	1	3	3	2	1	3	3	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135314193T>C	ENST00000316077.9	-	8	1143	c.923A>G	c.(922-924)cAg>cGg	p.Q308R	MAP7D3_ENST00000370663.5_Missense_Mutation_p.Q290R|MAP7D3_ENST00000370661.1_Missense_Mutation_p.Q273R	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	308						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CACATTCACCTGGGGGGGTGC	0.537													C	135314193	T	C	135314193	3	2	364	1	0	0	0	0	1	0	0	0	9344	1580	55	3	1751	3	MAP7D3	23	135314193	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	103	135314193	19956367	15509	39011											
MAP7D3	79649	broad.mit.edu	37	chrX	135326876	135326876	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcgctccttcagctttCtctgtctttcctccatctgt	2	20	4	15	1	4	0	1	0	3	0	9	0	7	0	3	0	1	2	3	0	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135326876C>A	ENST00000316077.9	-	4	552	c.332G>T	c.(331-333)aGa>aTa	p.R111I	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R93I|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R111I	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	111						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTTCAGCTTTCTCTGTCTTTC	0.358													A	135326876	C	A	135326876	3	1	364	1	0	0	0	0	1	0	0	0	9344	913	32	4	2358	4	MAP7D3	23	135326876	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	12683	135326876	19943684	15510	39012											
GPR112	139378	broad.mit.edu	37	chrX	135405040	135405040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagccgattcacagcatgCattgatctggtattcatgga	10	12	9	10	1	4	1	3	1	1	0	4	3	4	2	1	2	3	3	1	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405040C>T	ENST00000394143.1	+	5	465	c.174C>T	c.(172-174)tgC>tgT	p.C58C	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Silent_p.C58C|GPR112_ENST00000287534.4_5'UTR	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	58					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCACAGCATGCATTGATCTGG	0.418													T	135405040	C	T	135405040	2	4	364	1	0	0	0	0	0	0	0	1	6683	718	25	2		2	GPR112	23	135405040	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	78164	135405040	19865520	15511	39013											
GPR112	139378	broad.mit.edu	37	chrX	135405204	135405204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttttctatccgtcaccAcctggcttcatttcaatggc	7	14	6	14	1	4	0	3	0	1	0	5	1	5	0	4	2	0	1	4	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135405204A>G	ENST00000394143.1	+	5	629	c.338A>G	c.(337-339)cAc>cGc	p.H113R	GPR112_ENST00000394141.1_Intron|GPR112_ENST00000412101.1_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.H113R|GPR112_ENST00000287534.4_Missense_Mutation_p.H50R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	113					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATCCGTCACCACCTGGCTTCA	0.443													G	135405204	A	G	135405204	3	3	364	1	0	0	0	0	1	0	0	0	6683	159	6	3	344	3	GPR112	23	135405204	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	164	135405204	19865356	15512	39014											
GPR112	139378	broad.mit.edu	37	chrX	135427530	135427530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaaagagacctcctctaaGaccttttctttcttaacatc	11	14	4	12	1	3	2	0	0	3	2	6	4	4	2	3	0	1	0	3	0	3	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135427530G>T	ENST00000394143.1	+	6	1956	c.1665G>T	c.(1663-1665)aaG>aaT	p.K555N	GPR112_ENST00000394141.1_Missense_Mutation_p.K350N|GPR112_ENST00000412101.1_Missense_Mutation_p.K350N|GPR112_ENST00000370652.1_Missense_Mutation_p.K555N|GPR112_ENST00000287534.4_Missense_Mutation_p.K492N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	555					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CCTCCTCTAAGACCTTTTCTT	0.408													T	135427530	G	T	135427530	3	4	364	1	0	0	0	0	1	0	0	0	6683	933	33	4	1675	4	GPR112	23	135427530	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	22326	135427530	19843030	15513	39015											
GPR112	139378	broad.mit.edu	37	chrX	135428148	135428148	+	Frame_Shift_Del	DEL	A	A	-																															aaacttaccactttactactAaaaacaatacctatgtctac																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135428148delA	ENST00000394143.1	+	6	2574	c.2283delA	c.(2281-2283)ctafs	p.L761fs	GPR112_ENST00000394141.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000287534.4_Frame_Shift_Del_p.L698fs|GPR112_ENST00000412101.1_Frame_Shift_Del_p.L556fs|GPR112_ENST00000370652.1_Frame_Shift_Del_p.L761fs	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	761					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTTTACTACTAAAAACAATAC	0.358													-	135428148	A	-	135428148	7	5	364	1	0	1	0	1	0	0	0	0	6683	349	13	0	2293	0	GPR112	23	135428148	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	618	135428148	19842412	15514	39016											
GPR112	139378	broad.mit.edu	37	chrX	135429126	135429126	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagacttgattcgtacCacttcagaggccacggtaat	11	10	10	10	2	1	3	1	1	0	2	2	4	1	3	2	3	1	2	2	3	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135429126C>T	ENST00000394143.1	+	6	3552	c.3261C>T	c.(3259-3261)acC>acT	p.T1087T	GPR112_ENST00000394141.1_Silent_p.T882T|GPR112_ENST00000412101.1_Silent_p.T882T|GPR112_ENST00000370652.1_Silent_p.T1087T|GPR112_ENST00000287534.4_Silent_p.T1024T	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1087					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TGATTCGTACCACTTCAGAGG	0.468													T	135429126	C	T	135429126	2	4	364	1	0	0	0	0	0	0	0	1	6683	581	21	2		2	GPR112	23	135429126	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	978	135429126	19841434	15515	39017											
GPR112	139378	broad.mit.edu	37	chrX	135430313	135430313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttttacagttctctccgAcaggatcactacagcctttt	8	14	7	12	2	2	0	1	0	1	0	4	2	3	1	2	2	3	2	2	2	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135430313A>G	ENST00000394143.1	+	6	4739	c.4448A>G	c.(4447-4449)gAc>gGc	p.D1483G	GPR112_ENST00000394141.1_Missense_Mutation_p.D1278G|GPR112_ENST00000412101.1_Missense_Mutation_p.D1278G|GPR112_ENST00000370652.1_Missense_Mutation_p.D1483G|GPR112_ENST00000287534.4_Missense_Mutation_p.D1420G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1483					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTTCTCTCCGACAGGATCACT	0.438													G	135430313	A	G	135430313	3	3	364	1	0	0	0	0	1	0	0	0	6683	275	10	3	4458	3	GPR112	23	135430313	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	1187	135430313	19840247	15516	39018											
HTATSF1	27336	broad.mit.edu	37	chrX	135581814	135581814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcttctctaacgatggcGcatctagttctaccgcaaat	10	12	8	11	3	3	0	0	0	3	0	4	1	3	0	1	2	2	4	1	2	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135581814G>A	ENST00000535601.1	+	3	666	c.244G>A	c.(244-246)Gca>Aca	p.A82T	HTATSF1_ENST00000218364.4_Missense_Mutation_p.A82T	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	82					regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					TAACGATGGCGCATCTAGTTC	0.448													A	135581814	G	A	135581814	3	1	364	1	0	0	0	0	1	0	0	0	7491	1087	38	1	250	1	HTATSF1	23	135581814	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	151501	135581814	19688746	15517	39019											
HTATSF1	27336	broad.mit.edu	37	chrX	135593701	135593701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaaatgactctgaaaaCtccgaatttgaagatgacgg	17	8	10	6	2	1	6	0	4	1	2	2	8	2	6	1	1	1	0	1	1	7	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135593701C>A	ENST00000535601.1	+	10	2219	c.1797C>A	c.(1795-1797)aaC>aaA	p.N599K	HTATSF1_ENST00000218364.4_Missense_Mutation_p.N599K	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	599	Asp/Glu-rich (acidic).|Mediates interaction with the P-TEFb complex.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					ACTCTGAAAACTCCGAATTTG	0.393													A	135593701	C	A	135593701	3	1	364	1	0	0	0	0	1	0	0	0	7491	564	20	4	1831	4	HTATSF1	23	135593701	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	11887	135593701	19676859	15518	39020											
CD40LG	959	broad.mit.edu	37	chrX	135741287	135741287	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaccgttaaaagacaaGgactctattatatctatgcc	14	11	7	9	1	2	2	0	1	2	1	2	3	2	3	2	1	2	2	2	1	7	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135741287G>T	ENST00000370629.2	+	5	555	c.499G>T	c.(499-501)Gga>Tga	p.G167*	CD40LG_ENST00000370628.2_Nonsense_Mutation_p.G146*	NM_000074.2	NP_000065.1	P29965	CD40L_HUMAN	CD40 ligand	167					anti-apoptosis|B cell proliferation|inflammatory response|isotype switching|leukocyte cell-cell adhesion|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of interleukin-12 production	extracellular space|integral to plasma membrane|soluble fraction	CD40 receptor binding|cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|skin(1)|stomach(1)	26	Acute lymphoblastic leukemia(192;0.000127)				Atorvastatin(DB01076)	TAAAAGACAAGGACTCTATTA	0.458									Immune Deficiency with Hyper-IgM				T	135741287	G	T	135741287	4	4	364	1	0	0	0	0	0	1	0	0	3046	1001	35	4	517	4	CD40LG	23	135741287	Nonsense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	147586	135741287	19529273	15519	39021											
ARHGEF6	9459	broad.mit.edu	37	chrX	135750301	135750301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcttgatttcagttcttcttCcaggcattgcttcattcttt	5	21	5	10	0	6	1	2	1	4	0	7	1	7	1	1	1	1	3	1	1	0	9			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135750301C>T	ENST00000250617.6	-	22	3423	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	ARHGEF6_ENST00000535227.1_Missense_Mutation_p.E613K|ARHGEF6_ENST00000370622.1_Missense_Mutation_p.E586K|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.E586K	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	740					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					AGTTCTTCTTCCAGGCATTGC	0.473													T	135750301	C	T	135750301	3	4	364	1	0	0	0	0	1	0	0	0	913	864	30	2	116	2	ARHGEF6	23	135750301	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	9014	135750301	19520259	15520	39022											
RBMX	27316	broad.mit.edu	37	chrX	135957742	135957742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atctcttccacgtgatacagGagcttaaggaaaaatatcat	15	11	7	8	1	2	1	1	1	1	0	4	3	3	3	1	2	2	1	1	2	5	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:135957742G>A	ENST00000562646.1	-	6	698	c.544C>T	c.(544-546)Cct>Tct	p.P182S	RBMX_ENST00000565438.1_Missense_Mutation_p.P54S|RBMX_ENST00000320676.7_Missense_Mutation_p.P182S|RBMX_ENST00000570135.1_Missense_Mutation_p.P47S|RBMX_ENST00000431446.3_Silent_p.L73L			P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	182						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CGTGATACAGGAGCTTAAGGA	0.388													A	135957742	G	A	135957742	3	1	364	1	0	0	0	0	1	0	0	0	13239	1174	41	2	702	2	RBMX	23	135957742	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207441	135957742	19312818	15521	39023											
GPR101	83550	broad.mit.edu	37	chrX	136112328	136112328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggaaaagtagcagaatcGtaggaagggacaatcttgcc	16	6	12	7	1	1	1	0	0	1	1	2	4	1	4	1	3	2	3	1	3	8	3	rs150021829		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136112328G>A	ENST00000298110.1	-	1	1505	c.1506C>T	c.(1504-1506)taC>taT	p.Y502Y		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	502						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					TAGCAGAATCGTAGGAAGGGA	0.463													A	136112328	G	A	136112328	2	1	364	1	0	0	0	0	0	0	0	1	6676	1140	40	1		1	GPR101	23	136112328	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	154586	136112328	19158232	15522	39024											
GPR101	83550	broad.mit.edu	37	chrX	136113612	136113612	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctgcagcaggtcggtgacGaggaggttaaagataaaacg	14	7	14	6	3	1	2	0	1	1	1	2	4	1	3	0	4	3	3	0	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136113612G>A	ENST00000298110.1	-	1	221	c.222C>T	c.(220-222)ctC>ctT	p.L74L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	74						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					GGTCGGTGACGAGGAGGTTAA	0.617													A	136113612	G	A	136113612	2	1	364	1	0	0	0	0	0	0	0	1	6676	1045	37	1		1	GPR101	23	136113612	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1284	136113612	19156948	15523	39025											
ZIC3	7547	broad.mit.edu	37	chrX	136649846	136649846	+	Frame_Shift_Del	DEL	C	C	-																															aagcccttcccatgccccttCccgggctgcgggaagatctt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:136649846delC	ENST00000287538.5	+	1	1546	c.996delC	c.(994-996)ttcfs	p.F332fs	ZIC3_ENST00000370606.3_Frame_Shift_Del_p.F332fs	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	332	Nuclear localization signal.				cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CATGCCCCTTCCCGGGCTGCG	0.597													-	136649846	C	-	136649846	7	5	364	1	0	1	0	1	0	0	0	0	17781	854	30	0	998	0	ZIC3	23	136649846	Frame_Shift_Del	DEL	C	TCGA-DU-6392-01A-11D-1705-08	536234	136649846	18620714	15524	39026											
FGF13	2258	broad.mit.edu	37	chrX	137939699	137939699	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggctctgtgttctctttgtgGtgtacttgcttcagcgggca	3	16	13	9	1	3	0	1	0	2	0	4	0	3	0	0	3	3	5	0	3	1	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939699G>T	ENST00000441825.2	-	1	142	c.105C>A	c.(103-105)caC>caA	p.H35Q	FGF13_ENST00000370603.3_Missense_Mutation_p.H64Q|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	203					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					TCTCTTTGTGGTGTACTTGCT	0.443													T	137939699	G	T	137939699	3	4	364	1	0	0	0	0	1	0	0	0	5891	1252	44	4	818	4	FGF13	23	137939699	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1289853	137939699	17330861	15525	39027											
FGF13	2258	broad.mit.edu	37	chrX	137939758	137939758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttagcacgaaagggggactCttttttctttaattccgcag	9	14	9	9	2	2	0	0	0	2	0	3	2	3	1	1	2	1	2	1	2	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:137939758C>T	ENST00000441825.2	-	1	83	c.46G>A	c.(46-48)Gag>Aag	p.E16K	FGF13_ENST00000370603.3_Missense_Mutation_p.E45K|FGF13_ENST00000541469.1_Intron	NM_001139501.1|NM_001139502.1	NP_001132973.1|NP_001132974.1	Q92913	FGF13_HUMAN	fibroblast growth factor 13	0					cell-cell signaling|MAPKKK cascade|nervous system development	cytoplasm|nucleus	growth factor activity|protein kinase activator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)	24	Acute lymphoblastic leukemia(192;0.000127)					AAGGGGGACTCTTTTTTCTTT	0.483													T	137939758	C	T	137939758	3	4	364	1	0	0	0	0	1	0	0	0	5891	922	32	2	877	2	FGF13	23	137939758	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59	137939758	17330802	15526	39028											
F9	2158	broad.mit.edu	37	chrX	138630556	138630556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaagaatggcagatgcgaGcagttttgtaaaaatagtgc	15	11	11	4	1	0	2	0	0	0	2	0	3	0	2	0	1	3	4	0	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138630556G>T	ENST00000218099.2	+	5	433	c.426G>T	c.(424-426)gaG>gaT	p.E142D	F9_ENST00000394090.2_Missense_Mutation_p.E104D	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	142	EGF-like 2.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	GCAGATGCGAGCAGTTTTGTA	0.378													T	138630556	G	T	138630556	3	4	364	1	0	0	0	0	1	0	0	0	5396	962	34	4	444	4	F9	23	138630556	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	690798	138630556	16640004	15527	39029											
MCF2	4168	broad.mit.edu	37	chrX	138670585	138670585	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccacgtcatcttcacatCtacattagaagcctaaagat	14	11	5	11	1	4	2	2	0	2	2	4	2	4	2	2	0	3	0	2	0	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138670585C>A	ENST00000520602.1	-	24	2848	c.2563G>T	c.(2563-2565)Gat>Tat	p.D855Y	MCF2_ENST00000536274.1_Missense_Mutation_p.D756Y|MCF2_ENST00000338585.6_Missense_Mutation_p.D811Y|MCF2_ENST00000370576.4_Missense_Mutation_p.D795Y|MCF2_ENST00000414978.1_Missense_Mutation_p.D855Y|MCF2_ENST00000519895.1_Missense_Mutation_p.D871Y|MCF2_ENST00000370573.4_Missense_Mutation_p.D795Y|MCF2_ENST00000370578.4_Missense_Mutation_p.D940Y			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	795					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity	p.D795H(2)|p.D871H(1)		NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					ATCTTCACATCTACATTAGAA	0.338													A	138670585	C	A	138670585	3	1	364	1	0	0	0	0	1	0	0	0	9453	913	32	4	442	4	MCF2	23	138670585	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40029	138670585	16599975	15528	39030											
ATP11C	286410	broad.mit.edu	37	chrX	138864820	138864820	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgcctctatgagctgtCtgttaattctttcataatca	8	20	5	8	0	5	1	2	1	3	0	5	1	5	1	1	0	2	2	1	0	3	7			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138864820C>A	ENST00000370557.1	-	18	2865	c.1838G>T	c.(1837-1839)aGa>aTa	p.R613I	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.R616I|ATP11C_ENST00000327569.3_Missense_Mutation_p.R616I|ATP11C_ENST00000361648.2_Missense_Mutation_p.R616I|ATP11C_ENST00000359686.2_Missense_Mutation_p.R616I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	616					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TATGAGCTGTCTGTTAATTCT	0.368													A	138864820	C	A	138864820	3	1	364	1	0	0	0	0	1	0	0	0	1126	913	32	4	1666	4	ATP11C	23	138864820	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	194235	138864820	16405740	15529	39031											
ATP11C	286410	broad.mit.edu	37	chrX	138882243	138882243	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacagcctcaagactattaCtgtagatattgattcgccca	13	11	6	11	1	1	3	1	1	0	2	2	3	1	3	2	0	3	1	2	0	6	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:138882243C>A	ENST00000370557.1	-	8	1713	c.686G>T	c.(685-687)aGt>aTt	p.S229I	ATP11C_ENST00000370543.1_Missense_Mutation_p.S232I|ATP11C_ENST00000327569.3_Missense_Mutation_p.S232I|ATP11C_ENST00000361648.2_Missense_Mutation_p.S232I|ATP11C_ENST00000359686.2_Missense_Mutation_p.S232I			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	232					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AAGACTATTACTGTAGATATT	0.363													A	138882243	C	A	138882243	3	1	364	1	0	0	0	0	1	0	0	0	1126	565	20	4	2858	4	ATP11C	23	138882243	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17423	138882243	16388317	15530	39032											
CXorf66	347487	broad.mit.edu	37	chrX	139038581	139038581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttacataatttttctaggCtgcctttcttatgtgccttt	6	20	6	9	0	2	0	0	0	2	0	2	0	2	0	2	1	3	2	2	1	4	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139038581C>T	ENST00000370540.1	-	3	583	c.560G>A	c.(559-561)aGc>aAc	p.S187N		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	187						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTTTCTAGGCTGCCTTTCTT	0.403													T	139038581	C	T	139038581	3	4	364	1	0	0	0	0	1	0	0	0	4151	797	28	2	529	2	CXorf66	23	139038581	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	156338	139038581	16231979	15531	39033											
SOX3	6658	broad.mit.edu	37	chrX	139586632	139586632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccggatactccttcatgtgCacggcgcgaagtcgcttggc	6	10	12	13	5	1	0	1	0	0	0	4	2	3	1	2	3	2	2	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:139586632C>T	ENST00000370536.2	-	1	593	c.594G>A	c.(592-594)gtG>gtA	p.V198V		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	198					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					CCTTCATGTGCACGGCGCGAA	0.592													T	139586632	C	T	139586632	2	4	364	1	0	0	0	0	0	0	0	1	15045	697	25	2		2	SOX3	23	139586632	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	548051	139586632	15683928	15532	39034											
MAGEC3	139081	broad.mit.edu	37	chrX	140969286	140969286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcaagcaaaagagcctCtcacaagagcagagatgcag	18	5	9	9	0	2	3	2	0	1	3	3	4	2	3	1	0	4	3	1	0	6	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140969286C>A	ENST00000298296.1	+	4	613	c.613C>A	c.(613-615)Ctc>Atc	p.L205I	MAGEC3_ENST00000448920.1_Intron|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	205	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAAAGAGCCTCTCACAAGAGC	0.448													A	140969286	C	A	140969286	3	1	364	1	0	0	0	0	1	0	0	0	9257	913	32	4	627	4	MAGEC3	23	140969286	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1382654	140969286	14301274	15533	39035											
MAGEC3	139081	broad.mit.edu	37	chrX	140983167	140983167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaggtcagcagagggaaGcgtcttagacctggccaatc	11	7	12	11	1	3	2	2	0	1	2	4	3	3	3	2	3	2	1	2	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140983167G>A	ENST00000298296.1	+	5	1022	c.1022G>A	c.(1021-1023)aGc>aAc	p.S341N	MAGEC3_ENST00000544766.1_5'UTR|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000448920.1_Missense_Mutation_p.S93N|MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	341	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGAGGGAAGCGTCTTAGAC	0.582													A	140983167	G	A	140983167	3	1	364	1	0	0	0	0	1	0	0	0	9257	971	34	2	1040	2	MAGEC3	23	140983167	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13881	140983167	14287393	15534	39036											
MAGEC3	139081	broad.mit.edu	37	chrX	140984681	140984681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccagaagatgaggatatGcctgctgctgggatgccacc	9	9	13	10	0	0	3	0	1	0	2	1	5	1	5	4	2	4	3	4	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140984681G>A	ENST00000298296.1	+	7	1137	c.1137G>A	c.(1135-1137)atG>atA	p.M379I	MAGEC3_ENST00000544766.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000483584.1_3'UTR|MAGEC3_ENST00000409007.1_Missense_Mutation_p.M81I|MAGEC3_ENST00000443323.2_Start_Codon_SNP_p.M1I|MAGEC3_ENST00000536088.1_Missense_Mutation_p.M81I	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	379	MAGE 1.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					ATGAGGATATGCCTGCTGCTG	0.567													A	140984681	G	A	140984681	3	1	364	1	0	0	0	0	1	0	0	0	9257	1319	46	2	1392	2	MAGEC3	23	140984681	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1514	140984681	14285879	15535	39037											
MAGEC1	9947	broad.mit.edu	37	chrX	140994996	140994996	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctcagagccctcctcagggGgaggactccatgtctcctct	6	9	10	16	0	4	1	2	0	2	1	7	3	6	3	5	3	1	0	5	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:140994996G>T	ENST00000285879.4	+	4	2092	c.1806G>T	c.(1804-1806)ggG>ggT	p.G602G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	602							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCAGGGGGAGGACTCCA	0.582										HNSCC(15;0.026)			T	140994996	G	T	140994996	2	4	364	1	0	0	0	0	0	0	0	1	9255	1219	43	4		4	MAGEC1	23	140994996	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10315	140994996	14275564	15536	39038											
MAGEC2	51438	broad.mit.edu	37	chrX	141291666	141291666	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggaggaggcttcctcCtcttcctcatctgtgggatg	5	11	14	11	1	3	0	1	0	2	0	6	4	6	3	3	5	0	1	3	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:141291666C>A	ENST00000247452.3	-	3	455	c.108G>T	c.(106-108)gaG>gaT	p.E36D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	36	Poly-Glu.					cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					AGGCTTCCTCCTCTTCCTCAT	0.527										HNSCC(46;0.14)			A	141291666	C	A	141291666	3	1	364	1	0	0	0	0	1	0	0	0	9256	680	24	4	1017	4	MAGEC2	23	141291666	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	296670	141291666	13978894	15537	39039											
SPANXN1	494118	broad.mit.edu	37	chrX	144337285	144337285	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtattagcgttttgctacaGgaaagctaagaaaatacatt	16	12	8	5	1	0	1	0	0	0	1	0	2	0	2	0	1	5	4	0	1	8	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:144337285G>T	ENST00000370493.3	+	2	929	c.170G>T	c.(169-171)aGg>aTg	p.R57M		NM_001009614.2	NP_001009614.1	Q5VSR9	SPXN1_HUMAN	SPANX family, member N1	57								p.R57M(2)		endometrium(2)|kidney(2)|lung(8)|prostate(1)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGCTACAGGAAAGCTAAG	0.438													T	144337285	G	T	144337285	3	4	364	1	0	0	0	0	1	0	0	0	15086	1000	35	4	176	4	SPANXN1	23	144337285	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3045619	144337285	10933275	15538	39040											
FMR1	2332	broad.mit.edu	37	chrX	147013976	147013976	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcctcgagatttcatgaAcagtttatcgtaagagaaga	13	12	9	7	2	1	4	1	1	0	3	3	6	1	4	1	0	2	2	1	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147013976A>G	ENST00000218200.8	+	8	892	c.663A>G	c.(661-663)gaA>gaG	p.E221E	FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000370471.3_Silent_p.E221E|FMR1_ENST00000439526.2_Silent_p.E221E|FMR1_ENST00000334557.6_Silent_p.E221E|FMR1_ENST00000370470.1_Silent_p.E221E|FMR1_ENST00000370477.1_Silent_p.E221E|FMR1_ENST00000370475.4_Silent_p.E221E	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	221					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GATTTCATGAACAGTTTATCG	0.418									Fragile X syndrome				G	147013976	A	G	147013976	2	3	364	1	0	0	0	0	0	0	0	1	6009	40	2	3		3	FMR1	23	147013976	Silent	SNP	A	TCGA-DU-6392-01A-11D-1705-08	2676691	147013976	8256584	15539	39041											
FMR1	2332	broad.mit.edu	37	chrX	147014219	147014219	+	Frame_Shift_Del	DEL	A	A	-																															attaggatcaggatgcagtgAaaaaagctagaagctttctc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147014219delA	ENST00000218200.8	+	9	1046	c.817delA	c.(817-819)aaafs	p.K274fs	FMR1_ENST00000439526.2_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.K274fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000334557.6_Frame_Shift_Del_p.K274fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.K274fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	274					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					GGATGCAGTGAAAAAAGCTAG	0.333									Fragile X syndrome				-	147014219	A	-	147014219	7	5	364	1	0	1	0	1	0	0	0	0	6009	247	9	0	851	0	FMR1	23	147014219	Frame_Shift_Del	DEL	A	TCGA-DU-6392-01A-11D-1705-08	243	147014219	8256341	15540	39042											
FMR1	2332	broad.mit.edu	37	chrX	147024789	147024789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtcaaggaatgggtcgaGgtagtagaccttacagaaat	14	9	13	5	1	1	2	1	0	0	2	2	4	1	3	1	4	1	2	1	4	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147024789G>T	ENST00000218200.8	+	13	1580	c.1351G>T	c.(1351-1353)Ggt>Tgt	p.G451C	FMR1_ENST00000440235.2_Missense_Mutation_p.G119C|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000439526.2_Missense_Mutation_p.G449C|FMR1_ENST00000370470.1_Missense_Mutation_p.G472C|FMR1_ENST00000370477.1_Missense_Mutation_p.G451C|FMR1_ENST00000370475.4_Missense_Mutation_p.G472C|FMR1_ENST00000492846.1_3'UTR	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	472	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AATGGGTCGAGGTAGTAGACC	0.448									Fragile X syndrome				T	147024789	G	T	147024789	3	4	364	1	0	0	0	0	1	0	0	0	6009	1000	35	4	1468	4	FMR1	23	147024789	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10570	147024789	8245771	15541	39043											
FMR1	2332	broad.mit.edu	37	chrX	147026457	147026457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacgaactcagtgattggTcattagctccaacagaggaa	14	8	11	8	1	2	3	2	1	0	2	3	6	3	4	1	2	3	1	1	2	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147026457T>C	ENST00000218200.8	+	14	1706	c.1477T>C	c.(1477-1479)Tca>Cca	p.S493P	FMR1_ENST00000440235.2_Missense_Mutation_p.S161P|FMR1_ENST00000370471.3_Intron|FMR1_ENST00000439526.2_Missense_Mutation_p.S491P|FMR1_ENST00000370470.1_Intron|FMR1_ENST00000370477.1_Missense_Mutation_p.S481P|FMR1_ENST00000370475.4_Missense_Mutation_p.S514P	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	514	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					CAGTGATTGGTCATTAGCTCC	0.498									Fragile X syndrome				C	147026457	T	C	147026457	3	2	364	1	0	0	0	0	1	0	0	0	6009	1667	58	3	1598	3	FMR1	23	147026457	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	1668	147026457	8244103	15542	39044											
FMR1NB	158521	broad.mit.edu	37	chrX	147084731	147084731	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcttaagggtcctcataTtttgtgcttgcaaatggaca	9	16	8	8	0	3	0	1	0	2	0	4	1	4	1	1	2	2	2	1	2	3	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147084731T>A	ENST00000370467.3	+	2	362	c.288T>A	c.(286-288)taT>taA	p.Y96*		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	96						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGTCCTCATATTTTGTGCTTG	0.353													A	147084731	T	A	147084731	4	1	364	1	0	0	0	0	0	1	0	0	6010	1500	52	5	294	5	FMR1NB	23	147084731	Nonsense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	58274	147084731	8185829	15543	39045											
FMR1NB	158521	broad.mit.edu	37	chrX	147088322	147088322	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctgtttttcatcatcGgggaccacgagcttcaaatg	11	12	9	9	2	3	0	3	0	0	0	4	2	3	1	1	2	2	3	1	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:147088322G>A	ENST00000370467.3	+	3	572	c.498G>A	c.(496-498)tcG>tcA	p.S166S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	166	P-type.					integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					TTTCATCATCGGGGACCACGA	0.368													A	147088322	G	A	147088322	2	1	364	1	0	0	0	0	0	0	0	1	6010	1103	39	1		1	FMR1NB	23	147088322	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3591	147088322	8182238	15544	39046											
AFF2	2334	broad.mit.edu	37	chrX	148035176	148035176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggttctggcagctccagCgaatcggagagcagctctga	8	7	16	10	2	2	2	0	1	2	1	4	4	3	2	1	4	4	5	1	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148035176C>T	ENST00000370460.2	+	10	1943	c.1464C>T	c.(1462-1464)agC>agT	p.S488S	AFF2_ENST00000286437.5_Silent_p.S129S|AFF2_ENST00000342251.3_Silent_p.S455S|AFF2_ENST00000370457.5_Silent_p.S455S	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	488					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCTCCAGCGAATCGGAGA	0.552													T	148035176	C	T	148035176	2	4	364	1	0	0	0	0	0	0	0	1	357	767	27	1		1	AFF2	23	148035176	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	946854	148035176	7235384	15545	39047											
AFF2	2334	broad.mit.edu	37	chrX	148037455	148037455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtgtctcaaaggacaattgGgaaaaaacagcccaaaaaag	20	5	9	7	0	1	0	1	0	1	0	2	2	1	2	1	2	2	0	1	2	8	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037455G>A	ENST00000370460.2	+	11	2359	c.1880G>A	c.(1879-1881)gGg>gAg	p.G627E	AFF2_ENST00000286437.5_Missense_Mutation_p.G268E|AFF2_ENST00000342251.3_Missense_Mutation_p.G594E|AFF2_ENST00000370457.5_Missense_Mutation_p.G594E	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	627					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACAATTGGGAAAAAACAG	0.438													A	148037455	G	A	148037455	3	1	364	1	0	0	0	0	1	0	0	0	357	1232	43	2	1977	2	AFF2	23	148037455	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2279	148037455	7233105	15546	39048											
AFF2	2334	broad.mit.edu	37	chrX	148037907	148037907	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtaatgaagagccaacaTtttcacctattcctgtcatg	12	13	6	10	0	3	2	3	1	0	1	4	2	4	2	3	0	2	1	3	0	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148037907T>G	ENST00000370460.2	+	11	2811	c.2332T>G	c.(2332-2334)Ttt>Gtt	p.F778V	AFF2_ENST00000286437.5_Missense_Mutation_p.F419V|AFF2_ENST00000342251.3_Missense_Mutation_p.F745V|AFF2_ENST00000370457.5_Missense_Mutation_p.F745V	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	778					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCCAACATTTTCACCTAT	0.458													G	148037907	T	G	148037907	3	3	364	1	0	0	0	0	1	0	0	0	357	1493	52	5	2429	5	AFF2	23	148037907	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	452	148037907	7232653	15547	39049											
IDS	3423	broad.mit.edu	37	chrX	148585691	148585691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttcccagacatacctgcGcaaaggcattctggaagagg	12	7	12	10	1	1	2	0	0	1	2	2	3	2	3	2	4	2	3	2	4	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148585691G>A	ENST00000340855.6	-	2	445	c.236C>T	c.(235-237)gCg>gTg	p.A79V	IDS_ENST00000541269.1_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.A79V|IDS_ENST00000427113.2_Intron|IDS_ENST00000370441.4_Missense_Mutation_p.A79V|IDS_ENST00000370443.4_Missense_Mutation_p.A79V	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	79			A -> E (in MPS2; mild form).			lysosome	iduronate-2-sulfatase activity|metal ion binding			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					ACATACCTGCGCAAAGGCATT	0.572													A	148585691	G	A	148585691	3	1	364	1	0	0	0	0	1	0	0	0	7561	1087	38	1	1478	1	IDS	23	148585691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	547784	148585691	6684869	15548	39050											
MAGEA11	4110	broad.mit.edu	37	chrX	148797686	148797686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctcaggaagagtccttCtctcccactgccatggatgc	8	10	9	14	0	2	1	1	0	1	1	6	3	5	3	4	2	2	0	4	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148797686C>A	ENST00000355220.5	+	5	642	c.540C>A	c.(538-540)ttC>ttA	p.F180L	MAGEA11_ENST00000333104.4_Missense_Mutation_p.F151L	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	180						cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AAGAGTCCTTCTCTCCCACTG	0.562													A	148797686	C	A	148797686	3	1	364	1	0	0	0	0	1	0	0	0	9236	912	32	4	567	4	MAGEA11	23	148797686	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	211995	148797686	6472874	15549	39051											
MAGEA11	4110	broad.mit.edu	37	chrX	148798334	148798334	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccacgctgagaccagcaaGatgaaagttcttgagtacat	13	8	10	10	1	1	4	0	3	1	2	1	5	1	4	2	0	2	4	2	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:148798334G>T	ENST00000355220.5	+	5	1290	c.1188G>T	c.(1186-1188)aaG>aaT	p.K396N	MAGEA11_ENST00000333104.4_Missense_Mutation_p.K367N	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	396	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGACCAGCAAGATGAAAGTTC	0.547													T	148798334	G	T	148798334	3	4	364	1	0	0	0	0	1	0	0	0	9236	933	33	4	1215	4	MAGEA11	23	148798334	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	648	148798334	6472226	15550	39052											
MAMLD1	10046	broad.mit.edu	37	chrX	149639226	149639226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccccaccctatcgcccaGagaagctctctagcccaggc	8	6	8	19	2	1	1	0	0	1	1	4	2	2	1	5	1	2	1	5	1	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149639226G>A	ENST00000370401.2	+	4	1691	c.1381G>A	c.(1381-1383)Gag>Aag	p.E461K	MAMLD1_ENST00000262858.5_Missense_Mutation_p.E461K|MAMLD1_ENST00000432680.2_Missense_Mutation_p.E436K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.E436K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	461					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.E461Q(1)|p.E436Q(1)|p.E388Q(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CTATCGCCCAGAGAAGCTCTC	0.572													A	149639226	G	A	149639226	3	1	364	1	0	0	0	0	1	0	0	0	9283	943	33	2	1391	2	MAMLD1	23	149639226	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	840892	149639226	5631334	15551	39053											
MAMLD1	10046	broad.mit.edu	37	chrX	149671607	149671607	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtcagcctcgggcgaCagcccccgtcctgccaggcc	5	4	12	20	3	1	0	1	0	0	0	3	1	2	0	7	3	3	0	7	3	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149671607C>T	ENST00000370401.2	+	6	2414	c.2104C>T	c.(2104-2106)Cag>Tag	p.Q702*	MAMLD1_ENST00000262858.5_Nonsense_Mutation_p.Q702*|MAMLD1_ENST00000455522.2_Nonsense_Mutation_p.Q142*|MAMLD1_ENST00000432680.2_Intron|MAMLD1_ENST00000426613.2_Nonsense_Mutation_p.Q677*			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	702					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					CCTCGGGCGACAGCCCCCGTC	0.612													T	149671607	C	T	149671607	4	4	364	1	0	0	0	0	0	1	0	0	9283	479	17	2	2122	2	MAMLD1	23	149671607	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	32381	149671607	5598953	15552	39054											
MTM1	4534	broad.mit.edu	37	chrX	149809827	149809827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgctcttttggtggttcCgtatcgtgcctcagatgatg	4	15	11	11	2	2	2	1	1	1	1	4	2	3	2	3	2	2	3	3	2	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149809827C>T	ENST00000370396.2	+	8	668	c.614C>T	c.(613-615)cCg>cTg	p.P205L	MTM1_ENST00000542741.1_Missense_Mutation_p.P110L|MTM1_ENST00000543350.1_Missense_Mutation_p.P90L|MTM1_ENST00000306167.7_3'UTR|MTM1_ENST00000413012.2_Missense_Mutation_p.P168L	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	205	Myotubularin phosphatase.		P -> L (in XCNM; severe; dramatic decrease in phosphatase activity; abolishes interaction with DES).		endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TTGGTGGTTCCGTATCGTGCC	0.438													T	149809827	C	T	149809827	3	4	364	1	0	0	0	0	1	0	0	0	10013	652	23	1	640	1	MTM1	23	149809827	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	138220	149809827	5460733	15553	39055											
MTMR1	8776	broad.mit.edu	37	chrX	149905115	149905115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcttacccaaatgcagaaCttgtgttcttggagatccac	10	12	9	10	0	1	2	0	0	1	2	2	3	2	2	2	1	4	3	2	1	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905115C>T	ENST00000445323.2	+	11	1250	c.1129C>T	c.(1129-1131)Ctt>Ttt	p.L377F	MTMR1_ENST00000451863.2_Missense_Mutation_p.L369F|MTMR1_ENST00000541925.1_Missense_Mutation_p.L275F|MTMR1_ENST00000370390.3_Missense_Mutation_p.L369F|MTMR1_ENST00000544228.1_Missense_Mutation_p.L369F|MTMR1_ENST00000538506.1_Intron			Q13613	MTMR1_HUMAN	myotubularin related protein 1	369	Myotubularin phosphatase.|Substrate binding (By similarity).					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAATGCAGAACTTGTGTTCTT	0.403													T	149905115	C	T	149905115	3	4	364	1	0	0	0	0	1	0	0	0	10014	565	20	2	1143	2	MTMR1	23	149905115	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	95288	149905115	5365445	15554	39056											
MTMR1	8776	broad.mit.edu	37	chrX	149905195	149905195	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagattgtgtacccttcgatCgatgaggcgcggtggctctc	6	11	14	10	4	1	2	0	1	1	1	4	5	1	2	1	3	1	2	1	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149905195C>T	ENST00000445323.2	+	11	1330	c.1209C>T	c.(1207-1209)atC>atT	p.I403I	MTMR1_ENST00000451863.2_Silent_p.I395I|MTMR1_ENST00000541925.1_Silent_p.I301I|MTMR1_ENST00000370390.3_Silent_p.I395I|MTMR1_ENST00000544228.1_Silent_p.I395I|MTMR1_ENST00000538506.1_Intron			Q13613	MTMR1_HUMAN	myotubularin related protein 1	395	Myotubularin phosphatase.					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTCGATCGATGAGGCGC	0.448													T	149905195	C	T	149905195	2	4	364	1	0	0	0	0	0	0	0	1	10014	874	31	1		1	MTMR1	23	149905195	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	80	149905195	5365365	15555	39057											
CD99L2	83692	broad.mit.edu	37	chrX	149945940	149945940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atccagggtcgtcattgctgCcgtaccggccatcacctgaa	8	9	10	14	3	2	1	2	1	0	0	4	1	3	1	5	2	3	2	5	2	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149945940C>A	ENST00000370377.3	-	8	629	c.512G>T	c.(511-513)gGc>gTc	p.G171V	CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_Missense_Mutation_p.G98V|CD99L2_ENST00000466436.1_Missense_Mutation_p.G122V|CD99L2_ENST00000355149.3_Missense_Mutation_p.G99V	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	171					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTCATTGCTGCCGTACCGGCC	0.557													A	149945940	C	A	149945940	3	1	364	1	0	0	0	0	1	0	0	0	3081	739	26	4	292	4	CD99L2	23	149945940	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	40745	149945940	5324620	15556	39058											
CD99L2	83692	broad.mit.edu	37	chrX	149963702	149963702	+	Missense_Mutation	SNP	C	C	A																															ctcctccagcaattggtttcCtgcggccatcatctcgatca																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963702C>A	ENST00000370377.3	-	6	524	c.407G>T	c.(406-408)aGg>aTg	p.R136M	CD99L2_ENST00000466436.1_Missense_Mutation_p.R87M|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R64M	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	136					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AATTGGTTTCCTGCGGCCATC	0.478													A	149963702	C	A	149963702	3	1	364	1	0	0	0	0	1	0	0	0	3081	681	24	4	405	4	CD99L2	23	149963702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	17762	149963702	5306858	15557	39059	123	2									
CD99L2	83692	broad.mit.edu	37	chrX	149963705	149963705	+	Missense_Mutation	SNP	C	C	T																															ctccagcaattggtttcctgCggccatcatctcgatcattt																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:149963705C>T	ENST00000370377.3	-	6	521	c.404G>A	c.(403-405)cGc>cAc	p.R135H	CD99L2_ENST00000466436.1_Missense_Mutation_p.R86H|CD99L2_ENST00000437787.2_Intron|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Missense_Mutation_p.R63H	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	135					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					TGGTTTCCTGCGGCCATCATC	0.478													T	149963705	C	T	149963705	3	4	364	1	0	0	0	0	1	0	0	0	3081	768	27	1	408	1	CD99L2	23	149963705	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3	149963705	5306855	15558	39060	123	2									
HMGB3	3149	broad.mit.edu	37	chrX	150154607	150154607	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgggaaatgaaggattaTggaccagctaagggaggcaa	15	6	15	5	1	0	1	0	1	0	0	1	6	0	5	1	5	1	2	1	5	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150154607T>C	ENST00000325307.7	+	3	330	c.234T>C	c.(232-234)taT>taC	p.Y78Y	HMGB3_ENST00000448905.2_Silent_p.Y78Y	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	78					DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding			endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					TGAAGGATTATGGACCAGCTA	0.413													C	150154607	T	C	150154607	2	2	364	1	0	0	0	0	0	0	0	1	7282	1471	51	3		3	HMGB3	23	150154607	Silent	SNP	T	TCGA-DU-6392-01A-11D-1705-08	190902	150154607	5115953	15559	39061											
VMA21	203547	broad.mit.edu	37	chrX	150572153	150572153	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgctcctgttcttcacagCtttaatgatcactgttccta	8	15	6	12	1	3	1	2	1	1	0	5	2	5	1	2	0	1	4	2	0	2	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150572153C>A	ENST00000330374.6	+	2	209	c.104C>A	c.(103-105)gCt>gAt	p.A35D	VMA21_ENST00000370361.1_Missense_Mutation_p.A90D|VMA21_ENST00000477649.1_3'UTR	NM_001017980.3	NP_001017980.1	Q3ZAQ7	VMA21_HUMAN	VMA21 vacuolar H+-ATPase homolog (S. cerevisiae)	35					vacuolar proton-transporting V-type ATPase complex assembly	COPII vesicle coat|endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane|lysosome				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)	7						TTCTTCACAGCTTTAATGATC	0.348													A	150572153	C	A	150572153	3	1	364	1	0	0	0	0	1	0	0	0	17277	797	28	4	110	4	VMA21	23	150572153	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	417546	150572153	4698407	15560	39062											
CNGA2	1260	broad.mit.edu	37	chrX	150912736	150912736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagggactgctggatgagaaCgaagtggcaaccagcatgga	13	5	16	7	1	0	1	0	1	0	1	0	7	0	4	1	4	4	3	1	4	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:150912736C>T	ENST00000329903.4	+	6	1794	c.1761C>T	c.(1759-1761)aaC>aaT	p.N587N		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	587					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					TGGATGAGAACGAAGTGGCAA	0.547													T	150912736	C	T	150912736	2	4	364	1	0	0	0	0	0	0	0	1	3628	535	19	1		1	CNGA2	23	150912736	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	340583	150912736	4357824	15561	39063											
MAGEA4	4103	broad.mit.edu	37	chrX	151092394	151092394	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctggaggcaacccaatgaGggttccagcagccaagaaga	13	5	13	10	0	0	3	0	1	0	2	1	4	1	4	3	3	4	4	3	3	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092394G>T	ENST00000370335.1	+	3	525	c.258G>T	c.(256-258)gaG>gaT	p.E86D	MAGEA4_ENST00000393920.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000276344.2_Missense_Mutation_p.E86D|MAGEA4_ENST00000370340.3_Missense_Mutation_p.E86D|MAGEA4_ENST00000393921.1_Missense_Mutation_p.E86D|MAGEA4_ENST00000370337.4_Missense_Mutation_p.E86D|MAGEA4_ENST00000360243.2_Missense_Mutation_p.E86D			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	86							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					AACCCAATGAGGGTTCCAGCA	0.572													T	151092394	G	T	151092394	3	4	364	1	0	0	0	0	1	0	0	0	9241	991	35	4	260	4	MAGEA4	23	151092394	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	179658	151092394	4178166	15562	39064											
MAGEA4	4103	broad.mit.edu	37	chrX	151092966	151092966	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagttcctgtggggtccaaGggctctggctgaaaccagct	7	10	14	10	0	1	2	0	2	1	0	3	2	3	2	3	4	2	4	3	4	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151092966G>T	ENST00000370335.1	+	3	1097	c.830G>T	c.(829-831)aGg>aTg	p.R277M	MAGEA4_ENST00000393920.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000276344.2_Missense_Mutation_p.R277M|MAGEA4_ENST00000370340.3_Missense_Mutation_p.R277M|MAGEA4_ENST00000393921.1_Missense_Mutation_p.R277M|MAGEA4_ENST00000370337.4_Missense_Mutation_p.R277M|MAGEA4_ENST00000360243.2_Missense_Mutation_p.R277M			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	277	MAGE.						protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGGGGTCCAAGGGCTCTGGCT	0.552													T	151092966	G	T	151092966	3	4	364	1	0	0	0	0	1	0	0	0	9241	1000	35	4	832	4	MAGEA4	23	151092966	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	572	151092966	4177594	15563	39065											
GABRE	2564	broad.mit.edu	37	chrX	151138183	151138183	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggctgttgacggagatCtcaacagtgaccacagtggg	11	7	13	10	1	1	3	1	2	1	1	2	4	1	3	2	3	1	2	2	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151138183C>A	ENST00000370325.1	-	3	353	c.300G>T	c.(298-300)gaG>gaT	p.E100D	GABRE_ENST00000393914.3_5'UTR|GABRE_ENST00000370328.3_Missense_Mutation_p.E100D			P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	100					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TGACGGAGATCTCAACAGTGA	0.522													A	151138183	C	A	151138183	3	1	364	1	0	0	0	0	1	0	0	0	6222	912	32	4	1248	4	GABRE	23	151138183	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	45217	151138183	4132377	15564	39066											
MAGEA5	4104	broad.mit.edu	37	chrX	151284076	151284076	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcaatggagacccactgGcctggagagagagggagcat	11	5	17	8	0	0	3	0	0	0	3	0	7	0	4	2	5	1	2	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151284076G>A	ENST00000509345.2	-	0	260																											AGACCCACTGGCCTGGAGAGA	0.542													A	151284076	G	A	151284076	1	1	364	0	1	0	0	0	0	0	0	0	9242	1217	42	2		2	MAGEA5	23	151284076	RNA	SNP	G	TCGA-DU-6392-01A-11D-1705-08	145893	151284076	3986484	15565	39067											
GABRA3	2556	broad.mit.edu	37	chrX	151424261	151424261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgacctcattgtataGaggagggttccgttgtccac	7	13	10	11	1	2	2	1	1	1	1	5	3	4	3	3	2	0	3	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151424261G>T	ENST00000370314.4	-	5	778	c.540C>A	c.(538-540)ctC>ctA	p.L180L	GABRA3_ENST00000535043.1_Silent_p.L180L	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	180				L -> P (in Ref. 3; AAH28629).	gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.L180L(1)|p.L70L(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TCATTGTATAGAGGAGGGTTC	0.478													T	151424261	G	T	151424261	2	4	364	1	0	0	0	0	0	0	0	1	6214	929	33	4		4	GABRA3	23	151424261	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	140185	151424261	3846299	15566	39068											
GABRQ	55879	broad.mit.edu	37	chrX	151806759	151806759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcccgaaattccacttcGagttctcctctgctgtgccc	6	12	6	17	2	2	0	0	0	2	0	6	2	4	0	5	0	2	2	5	0	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151806759G>A	ENST00000370306.2	+	1	123	c.103G>A	c.(103-105)Gag>Aag	p.E35K		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	35						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|neurotransmitter transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCACTTCGAGTTCTCCTC	0.637													A	151806759	G	A	151806759	3	1	364	1	0	0	0	0	1	0	0	0	6227	1059	37	1	105	1	GABRQ	23	151806759	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	382498	151806759	3463801	15567	39069											
MAGEA6	4105	broad.mit.edu	37	chrX	151870016	151870016	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtttgaggggagggaaGacagtatcttcggggatccc	9	9	17	6	1	1	2	0	1	1	1	3	5	2	5	1	6	0	2	1	6	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151870016G>T	ENST00000329342.5	+	3	931	c.706G>T	c.(706-708)Gac>Tac	p.D236Y		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	236	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGGGAAGACAGTATCTT	0.532													T	151870016	G	T	151870016	3	4	364	1	0	0	0	0	1	0	0	0	9243	942	33	4	708	4	MAGEA6	23	151870016	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	63257	151870016	3400544	15568	39070											
MAGEA3	4102	broad.mit.edu	37	chrX	151935890	151935890	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggaaggtgcttggcccctCctcttcttggttgctggagt	4	13	14	10	0	2	0	0	0	2	0	3	2	3	2	3	5	2	3	3	5	1	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:151935890C>A	ENST00000393902.3	-	3	844	c.277G>T	c.(277-279)Gag>Tag	p.E93*	MAGEA3_ENST00000370278.3_Nonsense_Mutation_p.E93*			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	93										endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGGCCCCTCCTCTTCTTGG	0.567													A	151935890	C	A	151935890	4	1	364	1	0	0	0	0	0	1	0	0	9240	864	30	4	671	4	MAGEA3	23	151935890	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	65874	151935890	3334670	15569	39071											
ZNF185	7739	broad.mit.edu	37	chrX	152135744	152135744	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggactcattcgccatggaGaagaagcctccatgtggcag	11	7	13	10	1	1	2	1	0	0	2	3	5	2	3	3	3	1	1	3	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152135744G>T	ENST00000535861.1	+	21	1974	c.1926G>T	c.(1924-1926)gaG>gaT	p.E642D	ZNF185_ENST00000318504.7_Missense_Mutation_p.E551D|ZNF185_ENST00000318529.8_Missense_Mutation_p.E389D|ZNF185_ENST00000324823.6_Missense_Mutation_p.E378D|ZNF185_ENST00000539731.1_Missense_Mutation_p.E613D|ZNF185_ENST00000449285.2_Missense_Mutation_p.E611D|ZNF185_ENST00000454925.1_Missense_Mutation_p.E248D|ZNF185_ENST00000370270.2_Missense_Mutation_p.E642D|ZNF185_ENST00000370268.4_Missense_Mutation_p.E610D	NM_001178106.1	NP_001171577.1	O15231	ZN185_HUMAN	zinc finger protein 185 (LIM domain)	610	LIM zinc-binding.					cytoplasm|cytoskeleton|focal adhesion	zinc ion binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(3)	12	Acute lymphoblastic leukemia(192;6.56e-05)					TCGCCATGGAGAAGAAGCCTC	0.493													T	152135744	G	T	152135744	3	4	364	1	0	0	0	0	1	0	0	0	17853	933	33	4	2152	4	ZNF185	23	152135744	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	199854	152135744	3134816	15570	39072											
PNMA5	114824	broad.mit.edu	37	chrX	152159087	152159087	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcttgcctgtctaccGgaggccccccggcctctccc	2	10	9	20	2	4	0	0	0	4	0	5	1	4	1	7	3	3	1	7	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159087G>A	ENST00000439251.1	-	2	1494	c.1056C>T	c.(1054-1056)tcC>tcT	p.S352S	PNMA5_ENST00000535214.1_Silent_p.S352S|PNMA5_ENST00000452693.1_Silent_p.S352S|PNMA5_ENST00000361887.5_Silent_p.S352S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	352					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGTCTACCGGAGGCCCCCC	0.562													A	152159087	G	A	152159087	2	1	364	1	0	0	0	0	0	0	0	1	12233	1103	39	1		1	PNMA5	23	152159087	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	23343	152159087	3111473	15571	39073											
PNMA5	114824	broad.mit.edu	37	chrX	152159206	152159206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaattgggaggacaccCtcgctgatccaagagctcca	13	6	10	12	1	0	3	0	1	0	2	3	5	2	5	3	2	1	2	3	2	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159206C>A	ENST00000439251.1	-	2	1375	c.937G>T	c.(937-939)Ggg>Tgg	p.G313W	PNMA5_ENST00000535214.1_Missense_Mutation_p.G313W|PNMA5_ENST00000452693.1_Missense_Mutation_p.G313W|PNMA5_ENST00000361887.5_Missense_Mutation_p.G313W	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	313					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGACACCCTCGCTGATCC	0.527													A	152159206	C	A	152159206	3	1	364	1	0	0	0	0	1	0	0	0	12233	681	24	4	413	4	PNMA5	23	152159206	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	119	152159206	3111354	15572	39074											
PNMA5	114824	broad.mit.edu	37	chrX	152159756	152159756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcatccaggctctcggcaggGaggctgcaacatcccagggc	8	5	14	14	1	1	0	0	0	1	0	4	1	3	1	2	5	2	5	2	5	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152159756G>A	ENST00000439251.1	-	2	825	c.387C>T	c.(385-387)ctC>ctT	p.L129L	PNMA5_ENST00000535214.1_Silent_p.L129L|PNMA5_ENST00000452693.1_Silent_p.L129L|PNMA5_ENST00000361887.5_Silent_p.L129L	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	129					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					tctcggcagggaggctgcaac	0.502													A	152159756	G	A	152159756	2	1	364	1	0	0	0	0	0	0	0	1	12233	1161	41	2		2	PNMA5	23	152159756	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	550	152159756	3110804	15573	39075											
PNMA3	29944	broad.mit.edu	37	chrX	152226090	152226090	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggccagcaatgcttcCataactgtggaggagtgcct	8	9	12	12	1	0	0	0	0	0	0	2	2	2	2	4	3	4	2	4	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226090C>A	ENST00000447306.1	+	2	1014	c.678C>A	c.(676-678)tcC>tcA	p.S226S	PNMA3_ENST00000370264.4_Silent_p.S226S|PNMA3_ENST00000370265.4_Silent_p.S226S	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	226					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					gcaatgcttccataactgtgg	0.592													A	152226090	C	A	152226090	2	1	364	1	0	0	0	0	0	0	0	1	12232	581	21	4		4	PNMA3	23	152226090	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66334	152226090	3044470	15574	39076											
PNMA3	29944	broad.mit.edu	37	chrX	152226235	152226235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttacgtttggaacccctgCtccaaagagctgtagaaaac	12	10	9	10	1	0	2	0	0	0	2	1	3	1	3	3	1	5	5	3	1	6	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152226235C>T	ENST00000447306.1	+	2	1159	c.823C>T	c.(823-825)Ctc>Ttc	p.L275F	PNMA3_ENST00000370264.4_Missense_Mutation_p.L275F|PNMA3_ENST00000370265.4_Missense_Mutation_p.L275F	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	275					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					ggaacccctgctccaaagagc	0.478													T	152226235	C	T	152226235	3	4	364	1	0	0	0	0	1	0	0	0	12232	797	28	2	825	2	PNMA3	23	152226235	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	145	152226235	3044325	15575	39077											
ZNF275	10838	broad.mit.edu	37	chrX	152610162	152610162	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatgtggcatggtacCtcaccacaagggagtggttt	9	12	13	7	0	1	2	1	2	0	0	1	3	1	3	2	4	1	3	2	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152610162C>A	ENST00000440091.1	+	2	43	c.43C>A	c.(43-45)Ctc>Atc	p.L15I	ZNF275_ENST00000370249.2_5'UTR|ZNF275_ENST00000370251.3_Intron|ZNF275_ENST00000421401.3_Intron			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	0						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCATGGTACCTCACCACAAG	0.502													A	152610162	C	A	152610162	3	1	364	1	0	0	0	0	1	0	0	0	17911	696	24	4		4	ZNF275	23	152610162	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	383927	152610162	2660398	15576	39078											
ZNF275	10838	broad.mit.edu	37	chrX	152612497	152612497	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttaaagtcctgcttgtccaGcaccagagagtccacagtga	11	9	9	12	0	0	2	0	1	0	1	3	3	3	2	4	0	2	2	4	0	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152612497G>A	ENST00000421401.3	+	4	531	c.354G>A	c.(352-354)caG>caA	p.Q118Q	ZNF275_ENST00000370249.2_Silent_p.Q65Q|ZNF275_ENST00000440091.1_Silent_p.Q148Q|ZNF275_ENST00000370251.3_Silent_p.Q118Q			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	118						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTGTCCAGCACCAGAGAG	0.542													A	152612497	G	A	152612497	2	1	364	1	0	0	0	0	0	0	0	1	17911	962	34	2		2	ZNF275	23	152612497	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2335	152612497	2658063	15577	39079											
TREX2	11219	broad.mit.edu	37	chrX	152710594	152710594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaaggcctgcagcgtccGcaccacggcgccatcaaagc	10	3	12	16	4	1	0	1	0	0	0	2	1	2	1	4	3	3	2	4	3	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152710594G>A	ENST00000330912.2	-	13	1845	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W	TREX2_ENST00000338525.2_Missense_Mutation_p.R99W|TREX2_ENST00000393862.2_Missense_Mutation_p.R99W|TREX2_ENST00000414588.1_Missense_Mutation_p.R141W|TREX2_ENST00000370232.1_Missense_Mutation_p.R142W|TREX2_ENST00000370231.2_Missense_Mutation_p.R99W|TREX2_ENST00000334497.2_Missense_Mutation_p.R142W|TREX2_ENST00000402951.1_Missense_Mutation_p.R142W			Q9BQ50	TREX2_HUMAN	three prime repair exonuclease 2	142					DNA repair	nucleus	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|nucleic acid binding			endometrium(4)|large_intestine(2)|lung(3)|ovary(2)	11	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCGTCCGCACCACGGCG	0.667								Editing and processing nucleases					A	152710594	G	A	152710594	3	1	364	1	0	0	0	0	1	0	0	0	16578	1086	38	1	418	1	TREX2	23	152710594	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	98097	152710594	2559966	15578	39080											
BGN	633	broad.mit.edu	37	chrX	152770099	152770099	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatccgccatgtggcccCtgtggcgcctcgtgtctctg	2	11	12	16	3	1	0	0	0	1	0	5	0	3	0	6	2	0	0	6	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152770099C>A	ENST00000331595.4	+	2	196	c.10C>A	c.(10-12)Ctg>Atg	p.L4M	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	4						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGTGGCCCCTGTGGCGCCT	0.632													A	152770099	C	A	152770099	3	1	364	1	0	0	0	0	1	0	0	0	1424	680	24	4	12	4	BGN	23	152770099	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	59505	152770099	2500461	15579	39081											
ATP2B3	492	broad.mit.edu	37	chrX	152806914	152806914	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccttcctgcagctggtGtgggaggccctgcaggacgt	7	8	15	11	1	0	1	0	0	0	1	1	3	1	3	3	4	3	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152806914G>A	ENST00000370186.1	+	3	632	c.306G>A	c.(304-306)gtG>gtA	p.V102V	ATP2B3_ENST00000370181.2_Silent_p.V102V|ATP2B3_ENST00000349466.2_Silent_p.V102V|ATP2B3_ENST00000263519.4_Silent_p.V102V|ATP2B3_ENST00000393842.1_Silent_p.V102V|ATP2B3_ENST00000359149.3_Silent_p.V102V			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	102					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTGGTGTGGGAGGCCC	0.612													A	152806914	G	A	152806914	2	1	364	1	0	0	0	0	0	0	0	1	1146	1364	48	2		2	ATP2B3	23	152806914	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	36815	152806914	2463646	15580	39082											
ATP2B3	492	broad.mit.edu	37	chrX	152821652	152821652	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctagaagggaaggAgttcaaccggcggatccgca	10	6	14	11	3	1	1	1	0	0	1	2	4	2	4	4	4	2	2	4	4	4	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152821652A>G	ENST00000370186.1	+	12	2488	c.2162A>G	c.(2161-2163)gAg>gGg	p.E721G	ATP2B3_ENST00000370181.2_Missense_Mutation_p.E721G|ATP2B3_ENST00000349466.2_Missense_Mutation_p.E735G|ATP2B3_ENST00000263519.4_Missense_Mutation_p.E735G|ATP2B3_ENST00000393842.1_Missense_Mutation_p.E721G|ATP2B3_ENST00000359149.3_Missense_Mutation_p.E735G			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	735					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAAGGGAAGGAGTTCAACCGG	0.657													G	152821652	A	G	152821652	3	3	364	1	0	0	0	0	1	0	0	0	1146	304	11	3	2250	3	ATP2B3	23	152821652	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	14738	152821652	2448908	15581	39083											
ATP2B3	492	broad.mit.edu	37	chrX	152827665	152827665	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagtggctctggtgcCtgtttgttggtgttggggag	5	13	17	6	0	1	1	0	0	1	1	1	2	1	2	1	5	2	4	1	5	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152827665C>A	ENST00000370186.1	+	18	3408	c.3082C>A	c.(3082-3084)Ctg>Atg	p.L1028M	ATP2B3_ENST00000370181.2_Missense_Mutation_p.L1028M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.L1042M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.L1042M|ATP2B3_ENST00000393842.1_Missense_Mutation_p.L1028M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.L1042M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1042					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGGTGCCTGTTTGTTGG	0.587													A	152827665	C	A	152827665	3	1	364	1	0	0	0	0	1	0	0	0	1146	680	24	4	3194	4	ATP2B3	23	152827665	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	6013	152827665	2442895	15582	39084											
FAM58A	92002	broad.mit.edu	37	chrX	152861628	152861628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggcaatgggaatggaccGcatccctagcttgacacctg	10	8	12	11	1	0	1	0	1	0	0	1	3	1	3	3	3	1	3	3	3	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152861628G>A	ENST00000406277.2	-	4	226	c.124C>T	c.(124-126)Cgg>Tgg	p.R42W	FAM58A_ENST00000370175.4_5'UTR	NM_001130997.1|NM_152274.3	NP_001124469.1|NP_689487.2	Q8N1B3	FA58A_HUMAN	family with sequence similarity 58, member A	44					regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent		protein kinase binding			endometrium(2)|kidney(1)|large_intestine(1)|liver(1)|lung(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGAATGGACCGCATCCCTAGC	0.537													A	152861628	G	A	152861628	3	1	364	1	0	0	0	0	1	0	0	0	5640	1086	38	1	632	1	FAM58A	23	152861628	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33963	152861628	2408932	15583	39085											
DUSP9	1852	broad.mit.edu	37	chrX	152914912	152914912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccccaccagtggggctgcGggcatccttccctgtccaga	6	7	11	17	1	0	1	0	0	0	1	3	1	3	1	6	3	1	2	6	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152914912G>A	ENST00000342782.3	+	3	864	c.599G>A	c.(598-600)cGg>cAg	p.R200Q	DUSP9_ENST00000370167.4_Missense_Mutation_p.R200Q			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	200					inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGGCTGCGGGCATCCTTC	0.637													A	152914912	G	A	152914912	3	1	364	1	0	0	0	0	1	0	0	0	4871	1116	39	1	605	1	DUSP9	23	152914912	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	53284	152914912	2355648	15584	39086											
DUSP9	1852	broad.mit.edu	37	chrX	152915526	152915526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggcctacctcatgcaGaagctccacctctctctcaa	9	10	6	16	0	3	1	2	0	2	1	6	1	4	1	4	1	3	2	4	1	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152915526G>T	ENST00000342782.3	+	4	1186	c.921G>T	c.(919-921)caG>caT	p.Q307H	DUSP9_ENST00000370167.4_Missense_Mutation_p.Q307H			Q99956	DUS9_HUMAN	dual specificity phosphatase 9	307	Tyrosine-protein phosphatase.				inactivation of MAPK activity|JNK cascade	cytosol|endoplasmic reticulum|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCTCATGCAGAAGCTCCACC	0.562													T	152915526	G	T	152915526	3	4	364	1	0	0	0	0	1	0	0	0	4871	933	33	4	931	4	DUSP9	23	152915526	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	614	152915526	2355034	15585	39087											
PNCK	139728	broad.mit.edu	37	chrX	152936198	152936198	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggtctctctccacactgaCcttccagtgtgtccgagcaa	7	11	9	14	1	2	1	0	1	2	0	6	2	4	1	4	1	1	1	4	1	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152936198C>A	ENST00000393831.2	-	10	1398		c.e10+1		PNCK_ENST00000370142.1_Splice_Site|PNCK_ENST00000447676.2_Splice_Site|PNCK_ENST00000370145.4_Splice_Site|PNCK_ENST00000370150.1_Splice_Site|PNCK_ENST00000340888.3_Splice_Site	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase							cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCACACTGACCTTCCAGTGT	0.607													A	152936198	C	A	152936198	5	1	364	1	0	0	0	0	0	0	1	0	12222	521	18	4	144	4	PNCK	23	152936198	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	20672	152936198	2334362	15586	39088											
PNCK	139728	broad.mit.edu	37	chrX	152938140	152938140	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggccagcaccacctcGgagaaggcacccctgccgca	8	4	11	18	2	0	1	0	0	0	1	2	2	1	1	7	3	2	3	7	3	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152938140G>A	ENST00000393831.2	-	3	515	c.81C>T	c.(79-81)tcC>tcT	p.S27S	PNCK_ENST00000370142.1_Silent_p.S27S|PNCK_ENST00000447676.2_Silent_p.S110S|PNCK_ENST00000370145.4_Silent_p.S44S|PNCK_ENST00000475172.1_5'UTR|PNCK_ENST00000370150.1_Silent_p.S27S|PNCK_ENST00000340888.3_Silent_p.S27S	NM_001039582.3	NP_001034671.3	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	27	Protein kinase.					cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCACCACCTCGGAGAAGGCAC	0.701													A	152938140	G	A	152938140	2	1	364	1	0	0	0	0	0	0	0	1	12222	1103	39	1		1	PNCK	23	152938140	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1942	152938140	2332420	15587	39089											
ABCD1	215	broad.mit.edu	37	chrX	152991339	152991339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggtggcctttgcggcCtctgtggcccacctctactc	3	11	12	15	2	2	0	0	0	2	0	3	1	2	0	4	4	2	0	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991339C>T	ENST00000218104.3	+	1	1017	c.618C>T	c.(616-618)gcC>gcT	p.A206A	ABCD1_ENST00000370129.4_Silent_p.A21A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	206	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTGCGGCCTCTGTGGCCC	0.642													T	152991339	C	T	152991339	2	4	364	1	0	0	0	0	0	0	0	1	60	668	24	2		2	ABCD1	23	152991339	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	53199	152991339	2279221	15588	39090											
ABCD1	215	broad.mit.edu	37	chrX	152991417	152991417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctacaccctgcttcgggcGgcccgctcccgtggagccgg	3	7	13	18	5	0	0	0	0	0	0	3	1	2	1	5	4	3	2	5	4	1	2	rs147595334	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:152991417G>A	ENST00000218104.3	+	1	1095	c.696G>A	c.(694-696)gcG>gcA	p.A232A	ABCD1_ENST00000370129.4_Silent_p.A47A	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	232	ABC transmembrane type-1.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTTCGGGCGGCCCGCTCCC	0.682													A	152991417	G	A	152991417	2	1	364	1	0	0	0	0	0	0	0	1	60	1103	39	1		1	ABCD1	23	152991417	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	78	152991417	2279143	15589	39091											
ABCD1	215	broad.mit.edu	37	chrX	153005567	153005567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaaggcatgcatctgCtcatcacaggccccaatggc	10	7	12	12	0	3	0	2	0	1	0	3	2	3	2	2	5	2	3	2	5	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005567C>T	ENST00000218104.3	+	6	1909	c.1510C>T	c.(1510-1512)Ctc>Ttc	p.L504F	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	504	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATGCATCTGCTCATCACAGG	0.652													T	153005567	C	T	153005567	3	4	364	1	0	0	0	0	1	0	0	0	60	797	28	2	1532	2	ABCD1	23	153005567	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	14150	153005567	2264993	15590	39092											
ABCD1	215	broad.mit.edu	37	chrX	153005669	153005669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctacaagcccccaccccagCgcatgttctacatcccgcag	9	7	6	19	2	2	0	0	0	2	0	3	0	3	0	5	0	4	3	5	0	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153005669C>T	ENST00000218104.3	+	6	2011	c.1612C>T	c.(1612-1614)Cgc>Tgc	p.R538C	U52111.14_ENST00000434284.1_RNA	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1	538	ABC transporter.				fatty acid beta-oxidation using acyl-CoA oxidase|peroxisomal membrane transport|peroxisome organization	cytosol|integral to peroxisomal membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|identical protein binding|peroxisomal fatty-acyl-CoA transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCACCCCAGCGCATGTTCTA	0.637													T	153005669	C	T	153005669	3	4	364	1	0	0	0	0	1	0	0	0	60	768	27	1	1634	1	ABCD1	23	153005669	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	102	153005669	2264891	15591	39093											
PLXNB3	5365	broad.mit.edu	37	chrX	153034402	153034402	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtccttgtccccccactcaGgtctttctccacggctccca	4	11	6	20	2	3	0	1	0	2	0	7	0	6	0	6	2	0	1	6	2	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153034402G>T	ENST00000538966.1	+	6	1606		c.e6-1		PLXNB3_ENST00000538776.1_Splice_Site|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000361971.5_Splice_Site	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3						axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCCCACTCAGGTCTTTCTCC	0.627													T	153034402	G	T	153034402	5	4	364	1	0	0	0	0	0	0	1	0	12202	1014	35	4	1398	4	PLXNB3	23	153034402	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	28733	153034402	2236158	15592	39094											
PLXNB3	5365	broad.mit.edu	37	chrX	153035557	153035557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatcccaggtcactttgtCtgtcccccggctgcccatcc	4	11	8	18	1	2	0	1	0	1	0	5	0	5	0	5	2	2	2	5	2	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153035557C>T	ENST00000538966.1	+	9	1980	c.1709C>T	c.(1708-1710)tCt>tTt	p.S570F	PLXNB3_ENST00000538776.1_Missense_Mutation_p.S200F|PLXNB3_ENST00000538543.1_Missense_Mutation_p.S97F|PLXNB3_ENST00000538282.1_Missense_Mutation_p.S157F|PLXNB3_ENST00000361971.5_Missense_Mutation_p.S547F	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	547					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCACTTTGTCTGTCCCCCGG	0.617													T	153035557	C	T	153035557	3	4	364	1	0	0	0	0	1	0	0	0	12202	913	32	2	1784	2	PLXNB3	23	153035557	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1155	153035557	2235003	15593	39095											
PLXNB3	5365	broad.mit.edu	37	chrX	153037030	153037030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcctgtggtgtgctgacGgccagcctgcctgtcgctat	3	11	14	13	2	0	1	0	1	0	0	1	1	0	1	4	2	4	3	4	2	1	1	rs144601801	byFrequency	TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037030G>A	ENST00000538966.1	+	15	2777	c.2506G>A	c.(2506-2508)Ggc>Agc	p.G836S	PLXNB3_ENST00000538776.1_Missense_Mutation_p.G466S|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000538282.1_Missense_Mutation_p.G423S|PLXNB3_ENST00000361971.5_Missense_Mutation_p.G813S	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	813	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTGCTGACGGCCAGCCTGC	0.682													A	153037030	G	A	153037030	3	1	364	1	0	0	0	0	1	0	0	0	12202	1116	39	1	2605	1	PLXNB3	23	153037030	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	1473	153037030	2233530	15594	39096											
PLXNB3	5365	broad.mit.edu	37	chrX	153037429	153037429	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccgtgagcgtggccagccgGccctgcaaccctgagccctc	5	5	13	18	3	0	2	0	2	0	0	1	2	0	2	6	2	5	1	6	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153037429G>A	ENST00000538966.1	+	16	2968	c.2697G>A	c.(2695-2697)cgG>cgA	p.R899R	PLXNB3_ENST00000538776.1_Silent_p.R529R|PLXNB3_ENST00000538543.1_3'UTR|PLXNB3_ENST00000538282.1_Silent_p.R486R|PLXNB3_ENST00000361971.5_Silent_p.R876R	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	876	IPT/TIG 1.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGGCCAGCCGGCCCTGCAACC	0.687													A	153037429	G	A	153037429	2	1	364	1	0	0	0	0	0	0	0	1	12202	1190	42	2		2	PLXNB3	23	153037429	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	399	153037429	2233131	15595	39097											
PLXNB3	5365	broad.mit.edu	37	chrX	153040344	153040344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccccgcagacctcatgaCggagatgaccgacctcagca	10	5	11	15	3	2	4	2	2	0	2	2	6	2	4	5	2	1	2	5	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153040344C>T	ENST00000538966.1	+	25	4281	c.4010C>T	c.(4009-4011)aCg>aTg	p.T1337M	PLXNB3_ENST00000538776.1_Missense_Mutation_p.T967M|PLXNB3_ENST00000538282.1_Silent_p.D948D|PLXNB3_ENST00000361971.5_Missense_Mutation_p.T1314M	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1314					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GACCTCATGACGGAGATGACC	0.687													T	153040344	C	T	153040344	3	4	364	1	0	0	0	0	1	0	0	0	12202	536	19	1	4149	1	PLXNB3	23	153040344	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2915	153040344	2230216	15596	39098											
IDH3G	3421	broad.mit.edu	37	chrX	153055715	153055715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgggatcatggtcacCgtgtgccgcccgccatactt	5	10	10	16	3	2	0	2	0	0	0	3	1	3	1	6	2	2	0	6	2	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153055715C>T	ENST00000370092.3	-	4	353	c.168G>A	c.(166-168)acG>acA	p.T56T	IDH3G_ENST00000497043.1_5'UTR|IDH3G_ENST00000217901.5_Silent_p.T56T|IDH3G_ENST00000370093.1_Silent_p.T56T|IDH3G_ENST00000427365.2_5'UTR	NM_174869.2	NP_777358.1	P51553	IDH3G_HUMAN	isocitrate dehydrogenase 3 (NAD+) gamma	56					carbohydrate metabolic process|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleolus	ATP binding|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)	17	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	TCATGGTCACCGTGTGCCGCC	0.657													T	153055715	C	T	153055715	2	4	364	1	0	0	0	0	0	0	0	1	7556	639	23	1		1	IDH3G	23	153055715	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15371	153055715	2214845	15597	39099											
PDZD4	57595	broad.mit.edu	37	chrX	153069203	153069203	+	Missense_Mutation	SNP	G	G	A																															cagccgatctcgcacgggccGcttggccacgtagcgggttc																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069203G>A	ENST00000164640.4	-	8	2106	c.1915C>T	c.(1915-1917)Cgg>Tgg	p.R639W	PDZD4_ENST00000544474.1_Missense_Mutation_p.R530W|PDZD4_ENST00000393758.2_Missense_Mutation_p.R564W	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	639						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCACGGGCCGCTTGGCCACG	0.682													A	153069203	G	A	153069203	3	1	364	1	0	0	0	0	1	0	0	0	11779	1086	38	1	398	1	PDZD4	23	153069203	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	13488	153069203	2201357	15598	39100	124	2									
PDZD4	57595	broad.mit.edu	37	chrX	153069213	153069213	+	Silent	SNP	G	G	A																															cgcacgggccgcttggccacGtagcgggttccgtcgctgcg																										TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069213G>A	ENST00000164640.4	-	8	2096	c.1905C>T	c.(1903-1905)taC>taT	p.Y635Y	PDZD4_ENST00000544474.1_Silent_p.Y526Y|PDZD4_ENST00000393758.2_Silent_p.Y560Y	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	635						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGGCCACGTAGCGGGTTC	0.706													A	153069213	G	A	153069213	2	1	364	1	0	0	0	0	0	0	0	1	11779	1140	40	1		1	PDZD4	23	153069213	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	10	153069213	2201347	15599	39101	124	2									
PDZD4	57595	broad.mit.edu	37	chrX	153069756	153069756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcagctcggagatgtcGgacagctcgtgcttcttggg	5	10	16	10	4	1	1	0	0	1	1	5	3	1	2	0	4	3	4	0	4	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153069756G>A	ENST00000164640.4	-	8	1553	c.1362C>T	c.(1360-1362)tcC>tcT	p.S454S	PDZD4_ENST00000544474.1_Silent_p.S345S|PDZD4_ENST00000393758.2_Silent_p.S379S	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	454						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGGAGATGTCGGACAGCTCGT	0.657													A	153069756	G	A	153069756	2	1	364	1	0	0	0	0	0	0	0	1	11779	1103	39	1		1	PDZD4	23	153069756	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	543	153069756	2200804	15600	39102											
L1CAM	3897	broad.mit.edu	37	chrX	153128322	153128322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgttgagcgatggctggctGctgccaaaggccttctcctc	5	10	12	14	2	1	1	0	1	1	0	3	2	1	1	4	3	3	4	4	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153128322G>A	ENST00000370060.1	-	29	3759	c.3570C>T	c.(3568-3570)agC>agT	p.S1190S	L1CAM_ENST00000361699.4_Silent_p.S1186S|L1CAM_ENST00000543994.1_Silent_p.S1192S|L1CAM_ENST00000538883.1_Silent_p.S1188S|L1CAM_ENST00000361981.3_Silent_p.S1181S|L1CAM_ENST00000370057.3_Silent_p.S1190S|L1CAM_ENST00000370055.1_Silent_p.S1181S	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1190					axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ATGGCTGGCTGCTGCCAAAGG	0.632													A	153128322	G	A	153128322	2	1	364	1	0	0	0	0	0	0	0	1	8647	1310	46	2		2	L1CAM	23	153128322	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58566	153128322	2142238	15601	39103											
L1CAM	3897	broad.mit.edu	37	chrX	153130424	153130424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcccgaaggttgaaggaCagttgccccttgcccccctc	6	8	12	15	1	0	1	0	1	0	0	2	3	1	2	6	3	2	2	6	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153130424C>T	ENST00000370060.1	-	23	3087	c.2898G>A	c.(2896-2898)ctG>ctA	p.L966L	L1CAM_ENST00000361699.4_Silent_p.L966L|L1CAM_ENST00000543994.1_Silent_p.L968L|L1CAM_ENST00000538883.1_Silent_p.L968L|L1CAM_ENST00000361981.3_Silent_p.L961L|L1CAM_ENST00000370057.3_Silent_p.L966L|L1CAM_ENST00000370055.1_Silent_p.L961L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	966	Fibronectin type-III 4.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTTGAAGGACAGTTGCCCCT	0.652													T	153130424	C	T	153130424	2	4	364	1	0	0	0	0	0	0	0	1	8647	465	17	2		2	L1CAM	23	153130424	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2102	153130424	2140136	15602	39104											
L1CAM	3897	broad.mit.edu	37	chrX	153132843	153132843	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacagtctcagagaccGggctgggctccccggggcca	7	5	14	15	2	1	2	1	1	1	1	3	3	2	2	5	4	0	2	5	4	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153132843G>A	ENST00000370060.1	-	17	2294	c.2105C>T	c.(2104-2106)cCg>cTg	p.P702L	L1CAM_ENST00000361699.4_Missense_Mutation_p.P702L|L1CAM_ENST00000543994.1_Missense_Mutation_p.P704L|L1CAM_ENST00000538883.1_Missense_Mutation_p.P704L|L1CAM_ENST00000361981.3_Missense_Mutation_p.P697L|L1CAM_ENST00000370057.3_Missense_Mutation_p.P702L|L1CAM_ENST00000370055.1_Missense_Mutation_p.P697L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	702	Fibronectin type-III 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGACCGGGCTGGGCTC	0.607													A	153132843	G	A	153132843	3	1	364	1	0	0	0	0	1	0	0	0	8647	1116	39	1	1720	1	L1CAM	23	153132843	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2419	153132843	2137717	15603	39105											
L1CAM	3897	broad.mit.edu	37	chrX	153134067	153134067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgttttggtcattggcagCcaggcagaagtagcgtccgg	8	11	14	8	2	1	1	1	0	0	1	2	1	2	1	2	4	2	4	2	4	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153134067C>T	ENST00000370060.1	-	13	1684	c.1495G>A	c.(1495-1497)Gct>Act	p.A499T	L1CAM_ENST00000361699.4_Missense_Mutation_p.A499T|L1CAM_ENST00000543994.1_Missense_Mutation_p.A501T|L1CAM_ENST00000538883.1_Missense_Mutation_p.A501T|L1CAM_ENST00000361981.3_Missense_Mutation_p.A494T|L1CAM_ENST00000370057.3_Missense_Mutation_p.A499T|L1CAM_ENST00000370055.1_Missense_Mutation_p.A494T	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	499	Ig-like C2-type 5.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATTGGCAGCCAGGCAGAAG	0.557													T	153134067	C	T	153134067	3	4	364	1	0	0	0	0	1	0	0	0	8647	739	26	2	2346	2	L1CAM	23	153134067	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1224	153134067	2136493	15604	39106											
L1CAM	3897	broad.mit.edu	37	chrX	153138122	153138122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaaccaggcgccgtggaGactgttccgtgatgacaggt	10	7	14	10	3	0	4	0	2	0	2	1	5	1	4	3	3	1	1	3	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153138122G>T	ENST00000370060.1	-	4	311	c.122C>A	c.(121-123)tCt>tAt	p.S41Y	L1CAM_ENST00000361699.4_Missense_Mutation_p.S41Y|L1CAM_ENST00000543994.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000538883.1_Missense_Mutation_p.S43Y|L1CAM_ENST00000361981.3_Missense_Mutation_p.S36Y|L1CAM_ENST00000370057.3_Missense_Mutation_p.S41Y|L1CAM_ENST00000370055.1_Missense_Mutation_p.S36Y	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	41	Ig-like C2-type 1.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGCCGTGGAGACTGTTCCGT	0.602													T	153138122	G	T	153138122	3	4	364	1	0	0	0	0	1	0	0	0	8647	942	33	4	3755	4	L1CAM	23	153138122	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4055	153138122	2132438	15605	39107											
AVPR2	554	broad.mit.edu	37	chrX	153171513	153171513	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcccagcgcaacgtggaaGgtggcagcggggtcactgac	8	5	16	12	4	1	1	1	1	0	0	2	2	1	2	1	5	3	2	1	5	2	0	rs104894748		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171513G>T	ENST00000358927.2	+	3	762	c.553G>T	c.(553-555)Ggt>Tgt	p.G185C	AVPR2_ENST00000337474.5_Missense_Mutation_p.G185C|AVPR2_ENST00000370049.1_Missense_Mutation_p.G185C			P30518	V2R_HUMAN	arginine vasopressin receptor 2	185			G -> C (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CAACGTGGAAGGTGGCAGCGG	0.642													T	153171513	G	T	153171513	3	4	364	1	0	0	0	0	1	0	0	0	1238	1000	35	4	559	4	AVPR2	23	153171513	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	33391	153171513	2099047	15606	39108											
AVPR2	554	broad.mit.edu	37	chrX	153171565	153171565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcggagccctggggccGtcgcacctatgtcacctgga	5	9	13	14	3	1	0	1	0	0	0	2	2	1	2	4	4	2	1	4	4	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171565G>A	ENST00000358927.2	+	3	814	c.605G>A	c.(604-606)cGt>cAt	p.R202H	AVPR2_ENST00000337474.5_Missense_Mutation_p.R202H|AVPR2_ENST00000370049.1_Missense_Mutation_p.R202H			P30518	V2R_HUMAN	arginine vasopressin receptor 2	202			R -> C (in XNDI).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity	p.R202H(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCCTGGGGCCGTCGCACCTAT	0.632													A	153171565	G	A	153171565	3	1	364	1	0	0	0	0	1	0	0	0	1238	1145	40	1	611	1	AVPR2	23	153171565	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52	153171565	2098995	15607	39109											
AVPR2	554	broad.mit.edu	37	chrX	153171772	153171772	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgtggccaagactgtgaGgatgacgctagtgattgtgg	9	10	16	6	1	0	4	0	3	0	1	0	5	0	5	1	3	1	2	1	3	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153171772G>T	ENST00000358927.2	+	3	1021	c.812G>T	c.(811-813)aGg>aTg	p.R271M	AVPR2_ENST00000337474.5_Missense_Mutation_p.R271M|AVPR2_ENST00000370049.1_Missense_Mutation_p.R271M			P30518	V2R_HUMAN	arginine vasopressin receptor 2	271					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	AAGACTGTGAGGATGACGCTA	0.672													T	153171772	G	T	153171772	3	4	364	1	0	0	0	0	1	0	0	0	1238	1000	35	4	818	4	AVPR2	23	153171772	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	207	153171772	2098788	15608	39110											
ARHGAP4	393	broad.mit.edu	37	chrX	153176003	153176003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcagaaccaccagcaccgGcgcgggcagccgccacagca	10	0	13	18	5	0	1	0	0	0	1	0	1	0	1	5	2	4	4	5	2	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153176003G>A	ENST00000370028.3	-	17	2056	c.1999C>T	c.(1999-2001)Ccg>Tcg	p.P667S	ARHGAP4_ENST00000370016.1_Missense_Mutation_p.P606S|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.P449S|ARHGAP4_ENST00000350060.5_Missense_Mutation_p.P627S|ARHGAP4_ENST00000467421.1_5'UTR|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.P604S	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	627	Rho-GAP.				apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACCAGCACCGGCGCGGGCAGC	0.706													A	153176003	G	A	153176003	3	1	364	1	0	0	0	0	1	0	0	0	888	1203	42	2	989	2	ARHGAP4	23	153176003	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4231	153176003	2094557	15609	39111											
HCFC1	3054	broad.mit.edu	37	chrX	153215027	153215027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagaggacatgggccgCttgttggctggcttggtgcc	4	11	17	9	1	1	1	0	0	1	1	1	3	1	2	2	6	1	4	2	6	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153215027C>T	ENST00000310441.7	-	25	7011	c.6045G>A	c.(6043-6045)aaG>aaA	p.K2015K	HCFC1_ENST00000369984.4_Silent_p.K2060K|HCFC1_ENST00000354233.3_Silent_p.K1946K	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	2015					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACATGGGCCGCTTGTTGGCTG	0.532													T	153215027	C	T	153215027	2	4	364	1	0	0	0	0	0	0	0	1	7046	796	28	2		2	HCFC1	23	153215027	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	39024	153215027	2055533	15610	39112											
HCFC1	3054	broad.mit.edu	37	chrX	153223328	153223328	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgacatcactttgcccaGattggaaatctaaaaaggaa	16	8	7	10	1	2	1	1	0	1	1	2	4	2	3	2	2	1	0	2	2	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153223328G>T	ENST00000310441.7	-	12	3004	c.2038C>A	c.(2038-2040)Ctg>Atg	p.L680M	HCFC1_ENST00000369984.4_Missense_Mutation_p.L680M|HCFC1_ENST00000354233.3_Missense_Mutation_p.L611M	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	680	Interaction with SIN3A.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTTGCCCAGATTGGAAATC	0.562													T	153223328	G	T	153223328	3	4	364	1	0	0	0	0	1	0	0	0	7046	933	33	4	4129	4	HCFC1	23	153223328	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	8301	153223328	2047232	15611	39113											
HCFC1	3054	broad.mit.edu	37	chrX	153227081	153227081	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgacgagaggcacccaGccaccaaacacgtacattct	13	6	7	15	2	1	2	0	1	1	1	2	3	2	2	4	1	3	2	4	1	2	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153227081G>A	ENST00000310441.7	-	6	1782	c.816C>T	c.(814-816)ggC>ggT	p.G272G	HCFC1_ENST00000369984.4_Silent_p.G272G|HCFC1_ENST00000461098.1_Intron|HCFC1_ENST00000354233.3_Silent_p.G272G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	272					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCCAGCCACCAAACA	0.547													A	153227081	G	A	153227081	2	1	364	1	0	0	0	0	0	0	0	1	7046	958	34	2		2	HCFC1	23	153227081	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	3753	153227081	2043479	15612	39114											
MECP2	4204	broad.mit.edu	37	chrX	153296256	153296256	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccttgcttttccgcccaggGctcttacaggtcttcagtcc	4	14	8	15	1	3	0	1	0	2	0	6	0	6	0	4	2	2	2	4	2	1	5	rs62643610		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296256G>A	ENST00000303391.6	-	4	1272	c.1023C>T	c.(1021-1023)agC>agT	p.S341S	MECP2_ENST00000453960.2_Silent_p.S353S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	341					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCCGCCCAGGGCTCTTACAGG	0.627													A	153296256	G	A	153296256	2	1	364	1	0	0	0	0	0	0	0	1	9498	1194	42	2		2	MECP2	23	153296256	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	69175	153296256	1974304	15613	39115											
MECP2	4204	broad.mit.edu	37	chrX	153296283	153296283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtcttcagtcctttcccGctcttctcaccgagggtgga	5	12	10	14	2	4	0	2	0	3	0	7	2	6	1	3	3	0	1	3	3	0	3	rs61751369		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153296283G>A	ENST00000303391.6	-	4	1245	c.996C>T	c.(994-996)agC>agT	p.S332S	MECP2_ENST00000453960.2_Silent_p.S344S	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	332					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GTCCTTTCCCGCTCTTCTCAC	0.627													A	153296283	G	A	153296283	2	1	364	1	0	0	0	0	0	0	0	1	9498	1078	38	1		1	MECP2	23	153296283	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27	153296283	1974277	15614	39116											
MECP2	4204	broad.mit.edu	37	chrX	153363099	153363099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcctcctccgctcggCgcggcggcggcggcggcggc	0	5	16	20	9	0	0	0	0	0	0	5	0	4	0	5	7	0	1	5	7	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153363099C>T	ENST00000453960.2	-	1	78	c.24G>A	c.(22-24)gcG>gcA	p.A8A	MECP2_ENST00000407218.1_5'UTR|MECP2_ENST00000303391.6_5'UTR	NM_001110792.1	NP_001104262.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	0					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCGCTCGGCgcggcggcgg	0.776													T	153363099	C	T	153363099	2	4	364	1	0	0	0	0	0	0	0	1	9498	755	27	1		1	MECP2	23	153363099	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	66816	153363099	1907461	15615	39117											
FLNA	2316	broad.mit.edu	37	chrX	153581704	153581704	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcagcaaacagggctcCtcccggcccgagggcgggac	7	4	14	16	4	1	0	1	0	0	0	3	2	3	1	3	4	2	3	3	4	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153581704C>A	ENST00000422373.1	-	36	6206	c.5958G>T	c.(5956-5958)gaG>gaT	p.E1986D	FLNA_ENST00000360319.4_Missense_Mutation_p.E1986D|FLNA_ENST00000344736.4_Missense_Mutation_p.E1954D|FLNA_ENST00000369856.3_Missense_Mutation_p.E127D|FLNA_ENST00000369850.3_Missense_Mutation_p.E1994D	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1994					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACAGGGCTCCTCCCGGCCCG	0.647													A	153581704	C	A	153581704	3	1	364	1	0	0	0	0	1	0	0	0	5982	680	24	4	2009	4	FLNA	23	153581704	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	218605	153581704	1688856	15616	39118											
FLNA	2316	broad.mit.edu	37	chrX	153582583	153582583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagcctcgctgggtgcataCcgcacggtcacggtgccgtc	5	7	13	16	5	1	0	1	0	0	0	3	0	1	0	4	3	4	3	4	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582583C>T	ENST00000422373.1	-	33	5717	c.5469G>A	c.(5467-5469)cgG>cgA	p.R1823R	FLNA_ENST00000360319.4_Silent_p.R1823R|FLNA_ENST00000344736.4_Silent_p.R1791R|FLNA_ENST00000369856.3_Silent_p.R22R|FLNA_ENST00000369850.3_Silent_p.R1831R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1831					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGTGCATACCGCACGGTCA	0.652													T	153582583	C	T	153582583	2	4	364	1	0	0	0	0	0	0	0	1	5982	494	18	2		2	FLNA	23	153582583	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	879	153582583	1687977	15617	39119											
FLNA	2316	broad.mit.edu	37	chrX	153582630	153582630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcagtgatggtgggctgcgCcaccttgcctgagggcatcc	5	9	15	12	1	1	2	1	2	0	0	2	2	2	2	4	3	2	2	4	3	0	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153582630C>T	ENST00000422373.1	-	33	5670	c.5422G>A	c.(5422-5424)Gcg>Acg	p.A1808T	FLNA_ENST00000360319.4_Missense_Mutation_p.A1808T|FLNA_ENST00000344736.4_Missense_Mutation_p.A1776T|FLNA_ENST00000369856.3_Missense_Mutation_p.A7T|FLNA_ENST00000369850.3_Missense_Mutation_p.A1816T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1816					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGGCTGCGCCACCTTGCCT	0.632													T	153582630	C	T	153582630	3	4	364	1	0	0	0	0	1	0	0	0	5982	739	26	2	2557	2	FLNA	23	153582630	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	47	153582630	1687930	15618	39120											
FLNA	2316	broad.mit.edu	37	chrX	153583193	153583193	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taccccccacccctcctcacCgtcacttggaaggggctgtt	6	9	8	18	1	2	0	2	0	0	0	3	1	3	1	7	3	1	2	7	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153583193C>T	ENST00000422373.1	-	30	5441	c.5193G>A	c.(5191-5193)acG>acA	p.T1731T	FLNA_ENST00000360319.4_Splice_Site_p.T1731T|FLNA_ENST00000344736.4_Splice_Site_p.T1731T|FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000369850.3_Splice_Site_p.T1739T	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1739			Missing (in TOD).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCCTCCTCACCGTCACTTGGA	0.637													T	153583193	C	T	153583193	5	4	364	1	0	0	0	0	0	0	1	0	5982	666	23	1	2798	1	FLNA	23	153583193	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	563	153583193	1687367	15619	39121											
FLNA	2316	broad.mit.edu	37	chrX	153587864	153587864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttacctggtctccacaGtgaacttgttgggcttgttg	5	15	10	11	0	1	1	0	1	1	0	3	1	2	1	3	2	2	3	3	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153587864G>A	ENST00000422373.1	-	24	4378	c.4130C>T	c.(4129-4131)aCt>aTt	p.T1377I	FLNA_ENST00000360319.4_Missense_Mutation_p.T1377I|FLNA_ENST00000344736.4_Missense_Mutation_p.T1377I|FLNA_ENST00000369850.3_Missense_Mutation_p.T1377I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1377					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTCTCCACAGTGAACTTGTT	0.662													A	153587864	G	A	153587864	3	1	364	1	0	0	0	0	1	0	0	0	5982	1029	36	2	3913	2	FLNA	23	153587864	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	4671	153587864	1682696	15620	39122											
FLNA	2316	broad.mit.edu	37	chrX	153588193	153588193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgaggggttggccacacGggccttgacgtgcggccctc	4	7	16	14	3	0	2	0	2	0	0	1	2	0	2	4	5	1	1	4	5	0	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153588193G>A	ENST00000422373.1	-	23	4134	c.3886C>T	c.(3886-3888)Cgt>Tgt	p.R1296C	FLNA_ENST00000360319.4_Missense_Mutation_p.R1296C|FLNA_ENST00000344736.4_Missense_Mutation_p.R1296C|FLNA_ENST00000369850.3_Missense_Mutation_p.R1296C	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1296					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGCCACACGGGCCTTGACG	0.622													A	153588193	G	A	153588193	3	1	364	1	0	0	0	0	1	0	0	0	5982	1116	39	1	4161	1	FLNA	23	153588193	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	329	153588193	1682367	15621	39123											
FLNA	2316	broad.mit.edu	37	chrX	153589697	153589697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctaggcttggtgggggcCacagcttccagaggaaaggg	8	8	17	8	0	0	1	0	0	0	1	1	2	1	2	2	6	2	3	2	6	2	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153589697C>T	ENST00000422373.1	-	21	3434	c.3186G>A	c.(3184-3186)gtG>gtA	p.V1062V	FLNA_ENST00000360319.4_Silent_p.V1062V|FLNA_ENST00000344736.4_Silent_p.V1062V|FLNA_ENST00000369850.3_Silent_p.V1062V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1062					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGTGGGGGCCACAGCTTCCA	0.622													T	153589697	C	T	153589697	2	4	364	1	0	0	0	0	0	0	0	1	5982	581	21	2		2	FLNA	23	153589697	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1504	153589697	1680863	15622	39124											
FLNA	2316	broad.mit.edu	37	chrX	153592534	153592534	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggcagccttcattgtcCtgtcaggcagataggagcag	10	8	13	10	0	2	1	2	0	0	1	3	2	3	2	2	3	2	3	2	3	1	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592534C>A	ENST00000422373.1	-	15	2385		c.e15-1		FLNA_ENST00000360319.4_Splice_Site|FLNA_ENST00000344736.4_Splice_Site|FLNA_ENST00000369850.3_Splice_Site	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha						actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCATTGTCCTGTCAGGCAG	0.627													A	153592534	C	A	153592534	5	1	364	1	0	0	0	0	0	0	1	0	5982	695	24	4	5943	4	FLNA	23	153592534	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	2837	153592534	1678026	15623	39125											
FLNA	2316	broad.mit.edu	37	chrX	153592950	153592950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccatgaaggggctgaGgcggatgtcttcgctgttgc	6	10	16	9	2	2	2	1	2	1	0	3	3	2	3	1	4	2	3	1	4	1	2	rs137853311		TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153592950G>T	ENST00000422373.1	-	13	2214	c.1966C>A	c.(1966-1968)Ctc>Atc	p.L656I	FLNA_ENST00000360319.4_Missense_Mutation_p.L656I|FLNA_ENST00000344736.4_Missense_Mutation_p.L656I|FLNA_ENST00000369850.3_Missense_Mutation_p.L656I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	656			L -> F (in PVNH1).		actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGGGGCTGAGGCGGATGTCT	0.622													T	153592950	G	T	153592950	3	4	364	1	0	0	0	0	1	0	0	0	5982	1000	35	4	6121	4	FLNA	23	153592950	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	416	153592950	1677610	15624	39126											
FLNA	2316	broad.mit.edu	37	chrX	153596036	153596036	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagccagtcatccgcCtgctgcatggcctctcgcgc	5	8	10	18	3	2	0	1	0	1	0	4	0	3	0	5	1	4	2	5	1	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153596036C>A	ENST00000422373.1	-	4	941	c.693G>T	c.(691-693)caG>caT	p.Q231H	FLNA_ENST00000360319.4_Missense_Mutation_p.Q231H|FLNA_ENST00000344736.4_Missense_Mutation_p.Q231H|FLNA_ENST00000369850.3_Missense_Mutation_p.Q231H	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	231	Actin-binding.|CH 2.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGTCATCCGCCTGCTGCATGG	0.667													A	153596036	C	A	153596036	3	1	364	1	0	0	0	0	1	0	0	0	5982	680	24	4	7430	4	FLNA	23	153596036	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3086	153596036	1674524	15625	39127											
EMD	2010	broad.mit.edu	37	chrX	153609120	153609120	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttctgcaggtgcatgAtgacgatcttttgtcttctt	5	18	8	10	1	5	2	0	2	5	0	6	3	5	2	0	1	2	2	0	1	0	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153609120A>T	ENST00000369842.4	+	5	695	c.407A>T	c.(406-408)gAt>gTt	p.D136V	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Missense_Mutation_p.D101V	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	136	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTGCATGATGACGATCTT	0.612													T	153609120	A	T	153609120	3	4	364	1	0	0	0	0	1	0	0	0	5128	333	12	5	425	5	EMD	23	153609120	Missense_Mutation	SNP	A	TCGA-DU-6392-01A-11D-1705-08	13084	153609120	1661440	15626	39128											
RPL10	6134	broad.mit.edu	37	chrX	153627702	153627702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtattgtaagaacaagcCgtacccaaagtctcgcttct	11	10	8	12	3	2	1	0	0	2	1	3	1	2	1	3	1	3	4	3	1	6	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627702C>T	ENST00000424325.2	+	3	235	c.47C>T	c.(46-48)cCg>cTg	p.P16L	RPL10_ENST00000369817.2_Missense_Mutation_p.P16L|RPL10_ENST00000406022.2_5'UTR	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	16					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AAGAACAAGCCGTACCCAAAG	0.552											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	153627702	C	T	153627702	3	4	364	1	0	0	0	0	1	0	0	0	13645	652	23	1	53	1	RPL10	23	153627702	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	18582	153627702	1642858	15627	39129											
RPL10	6134	broad.mit.edu	37	chrX	153627882	153627882	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaggcaaaagtggatgagtTtccgctttgtggccacatgg	11	10	13	7	1	0	1	0	1	0	0	1	2	1	2	2	4	0	3	2	4	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153627882T>G	ENST00000424325.2	+	4	325	c.137T>G	c.(136-138)tTt>tGt	p.F46C	RPL10_ENST00000369817.2_Missense_Mutation_p.F46C|RPL10_ENST00000406022.2_5'UTR	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	46					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGGATGAGTTTCCGCTTTGT	0.522											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	153627882	T	G	153627882	3	3	364	1	0	0	0	0	1	0	0	0	13645	1841	64	5	147	5	RPL10	23	153627882	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	180	153627882	1642678	15628	39130											
RPL10	6134	broad.mit.edu	37	chrX	153628932	153628932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatgtgattgaggccctgCgcagggccaagttcaagttt	9	10	13	9	1	1	2	1	2	0	0	1	2	1	2	2	2	2	4	2	2	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153628932C>T	ENST00000424325.2	+	6	645	c.457C>T	c.(457-459)Cgc>Tgc	p.R153C	RPL10_ENST00000369817.2_Missense_Mutation_p.R153C|RPL10_ENST00000406022.2_Missense_Mutation_p.R102C	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	153					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGAGGCCCTGCGCAGGGCCAA	0.572													T	153628932	C	T	153628932	3	4	364	1	0	0	0	0	1	0	0	0	13645	768	27	1	475	1	RPL10	23	153628932	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1050	153628932	1641628	15629	39131											
TAZ	6901	broad.mit.edu	37	chrX	153648575	153648575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgacgtccttcctaacaGtccgccctacttcccccgct	7	10	6	18	3	0	1	0	1	0	0	4	2	4	1	6	0	2	1	6	0	3	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153648575G>A	ENST00000299328.5	+	9	960	c.671G>A	c.(670-672)aGt>aAt	p.S224N	TAZ_ENST00000350743.4_Missense_Mutation_p.S194N|TAZ_ENST00000498029.1_3'UTR|TAZ_ENST00000351413.4_Missense_Mutation_p.S210N|TAZ_ENST00000369776.4_Missense_Mutation_p.S194N|TAZ_ENST00000475699.1_Missense_Mutation_p.S197N|TAZ_ENST00000369790.4_Missense_Mutation_p.S180N	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	224					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTTCCTAACAGTCCGCCCTAC	0.627													A	153648575	G	A	153648575	3	1	364	1	0	0	0	0	1	0	0	0	15693	1029	36	2	705	2	TAZ	23	153648575	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	19643	153648575	1621985	15630	39132											
ATP6AP1	537	broad.mit.edu	37	chrX	153660611	153660611	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcctctcccctgtccccaGaatgccctggacctggcccc	4	9	8	20	0	1	1	0	0	1	1	3	2	2	2	9	2	2	0	9	2	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153660611G>T	ENST00000369762.2	+	4	424		c.e4-1		ATP6AP1_ENST00000484908.1_Splice_Site	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1						ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGTCCCCAGAATGCCCTGG	0.642											OREG0003605	type=REGULATORY REGION|Gene=ATP6AP1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	153660611	G	T	153660611	5	4	364	1	0	0	0	0	0	0	1	0	1170	956	33	4	377	4	ATP6AP1	23	153660611	Splice_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	12036	153660611	1609949	15631	39133											
ATP6AP1	537	broad.mit.edu	37	chrX	153663813	153663813	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcctcgtggcccgcacgCagccctctccctggcagatg	4	8	11	18	3	2	1	0	0	2	1	5	1	2	1	4	2	1	3	4	2	0	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153663813C>T	ENST00000369762.2	+	9	1226	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	389					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCCCGCACGCAGCCCTCTCC	0.607													T	153663813	C	T	153663813	4	4	364	1	0	0	0	0	0	1	0	0	1170	711	25	2	1199	2	ATP6AP1	23	153663813	Nonsense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3202	153663813	1606747	15632	39134											
GDI1	2664	broad.mit.edu	37	chrX	153669466	153669466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgccatctatggggggaCatatatgctgaacaaacctg	12	9	12	8	0	1	1	0	1	1	0	1	3	1	2	2	3	4	1	2	3	5	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153669466C>T	ENST00000447750.2	+	7	1078	c.743C>T	c.(742-744)aCa>aTa	p.T248I		NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	248					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TATGGGGGGACATATATGCTG	0.567													T	153669466	C	T	153669466	3	4	364	1	0	0	0	0	1	0	0	0	6376	478	17	2	769	2	GDI1	23	153669466	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	5653	153669466	1601094	15633	39135											
PLXNA3	55558	broad.mit.edu	37	chrX	153696663	153696663	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacgccacccaacgtggaGaaggccctgcgcctcttcgg	8	5	12	16	4	1	2	0	0	1	2	2	3	1	2	4	3	2	0	4	3	2	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153696663G>T	ENST00000369682.3	+	23	4156	c.3981G>T	c.(3979-3981)gaG>gaT	p.E1327D		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1327					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCAACGTGGAGAAGGCCCTGC	0.672													T	153696663	G	T	153696663	3	4	364	1	0	0	0	0	1	0	0	0	12198	933	33	4	4067	4	PLXNA3	23	153696663	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	27197	153696663	1573897	15634	39136											
PLXNA3	55558	broad.mit.edu	37	chrX	153699861	153699861	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattgcaaagatggcatcCatcagcgaccaggacatgga	14	6	11	10	1	1	1	1	0	0	1	2	5	2	3	2	3	2	2	2	3	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153699861C>A	ENST00000369682.3	+	32	5575	c.5400C>A	c.(5398-5400)tcC>tcA	p.S1800S		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1800					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGATGGCATCCATCAGCGACC	0.552													A	153699861	C	A	153699861	2	1	364	1	0	0	0	0	0	0	0	1	12198	581	21	4		4	PLXNA3	23	153699861	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	3198	153699861	1570699	15635	39137											
UBL4A	8266	broad.mit.edu	37	chrX	153714147	153714147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccctgctggcatctgccGcactgaagtggcgggccaag	7	6	15	13	2	1	1	0	1	1	0	1	2	1	2	3	4	2	3	3	4	2	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153714147G>A	ENST00000369660.4	-	3	411	c.326C>T	c.(325-327)gCg>gTg	p.A109V	UBL4A_ENST00000369653.4_Missense_Mutation_p.A109V|UBL4A_ENST00000477777.1_5'UTR	NM_014235.3	NP_055050.1	P11441	UBL4A_HUMAN	ubiquitin-like 4A	109					protein modification process|tail-anchored membrane protein insertion into ER membrane|transport	BAT3 complex	small conjugating protein ligase activity	p.A109V(1)		endometrium(5)|lung(1)|urinary_tract(1)	7	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCATCTGCCGCACTGAAGTG	0.622													A	153714147	G	A	153714147	3	1	364	1	0	0	0	0	1	0	0	0	16989	1087	38	1	155	1	UBL4A	23	153714147	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	14286	153714147	1556413	15636	39138											
SLC10A3	8273	broad.mit.edu	37	chrX	153716011	153716011	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggccagcaggctgttctgCacccctacctcaatgctgac	9	8	9	15	0	2	1	1	1	1	0	2	1	2	1	4	2	4	5	4	2	3	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153716011C>T	ENST00000263512.4	-	2	1767	c.1269G>A	c.(1267-1269)gtG>gtA	p.V423V	SLC10A3_ENST00000393586.1_Silent_p.V478V|SLC10A3_ENST00000393587.4_Silent_p.V423V|SLC10A3_ENST00000369649.4_Silent_p.V394V	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	423					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGTTCTGCACCCCTACCT	0.647													T	153716011	C	T	153716011	2	4	364	1	0	0	0	0	0	0	0	1	14469	697	25	2		2	SLC10A3	23	153716011	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1864	153716011	1554549	15637	39139											
SLC10A3	8273	broad.mit.edu	37	chrX	153717057	153717057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtcctcaggaaactcaaactCcatcacagagccatctccaa	14	7	5	15	0	4	1	3	0	1	1	7	2	6	2	4	1	3	0	4	1	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153717057C>T	ENST00000263512.4	-	2	721	c.223G>A	c.(223-225)Gag>Aag	p.E75K	SLC10A3_ENST00000393586.1_Missense_Mutation_p.E130K|SLC10A3_ENST00000393587.4_Missense_Mutation_p.E75K|SLC10A3_ENST00000369649.4_Missense_Mutation_p.E75K	NM_019848.3	NP_062822.1	P09131	P3_HUMAN	solute carrier family 10, member 3	75					organic anion transport	integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AACTCAAACTCCATCACAGAG	0.632													T	153717057	C	T	153717057	3	4	364	1	0	0	0	0	1	0	0	0	14469	864	30	2	1214	2	SLC10A3	23	153717057	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1046	153717057	1553503	15638	39140											
G6PD	2539	broad.mit.edu	37	chrX	153762600	153762600	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttgcccaggtagtggtcGatgcggtagatctggtcctc	5	12	13	11	2	1	1	0	0	1	1	5	2	3	1	3	4	2	2	3	4	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153762600G>A	ENST00000393562.2	-	6	1070	c.687C>T	c.(685-687)atC>atT	p.I229I	G6PD_ENST00000369620.2_Silent_p.I199I|G6PD_ENST00000393564.2_Silent_p.I199I	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	199					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTAGTGGTCGATGCGGTAGA	0.632													A	153762600	G	A	153762600	2	1	364	1	0	0	0	0	0	0	0	1	6198	1048	37	1		1	G6PD	23	153762600	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	45543	153762600	1507960	15639	39141											
G6PD	2539	broad.mit.edu	37	chrX	153774302	153774302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgactgatggaaggcatcGccctggaaaagctcttcccg	9	8	11	13	3	1	1	0	1	1	0	4	4	3	3	3	3	1	2	3	3	3	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153774302G>A	ENST00000393562.2	-	2	542	c.159C>T	c.(157-159)ggC>ggT	p.G53G	IKBKG_ENST00000369609.5_Intron|G6PD_ENST00000497281.1_5'UTR|G6PD_ENST00000369620.2_Silent_p.G23G|IKBKG_ENST00000369607.1_Intron|G6PD_ENST00000393564.2_Silent_p.G23G	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	23					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGAAGGCATCGCCCTGGAAAA	0.567													A	153774302	G	A	153774302	2	1	364	1	0	0	0	0	0	0	0	1	6198	1074	38	1		1	G6PD	23	153774302	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	11702	153774302	1496258	15640	39142											
CTAG2	30848	broad.mit.edu	37	chrX	153881751	153881751	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgggccatcagcatcGcccgtcgaaccccctgtgcc	5	7	9	20	3	1	0	1	0	0	0	4	1	2	0	7	1	3	1	7	1	1	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153881751G>A	ENST00000247306.4	-	1	102	c.39C>T	c.(37-39)ggC>ggT	p.G13G	CTAG2_ENST00000369585.3_Silent_p.G13G	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	13	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATCAGCATCGCCCGTCGAAC	0.716													A	153881751	G	A	153881751	2	1	364	1	0	0	0	0	0	0	0	1	4024	1074	38	1		1	CTAG2	23	153881751	Silent	SNP	G	TCGA-DU-6392-01A-11D-1705-08	107449	153881751	1388809	15641	39143											
GAB3	139716	broad.mit.edu	37	chrX	153940612	153940612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actccactcctcttggcgccGttcagacagatggcttggct	6	11	10	14	2	2	2	1	0	1	2	4	2	4	2	3	3	0	3	3	3	0	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940612G>A	ENST00000369575.3	-	4	989	c.958C>T	c.(958-960)Cgg>Tgg	p.R320W	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.R321W	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	320										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCGCCGTTCAGACAGA	0.493													A	153940612	G	A	153940612	3	1	364	1	0	0	0	0	1	0	0	0	6202	1144	40	1	830	1	GAB3	23	153940612	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	58861	153940612	1329948	15642	39144											
GAB3	139716	broad.mit.edu	37	chrX	153940894	153940894	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actggaggggagcggctgcaGgcagtcaacaaaaacatcat	14	5	13	9	1	2	0	2	0	0	0	2	2	2	2	0	5	4	3	0	5	3	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153940894G>T	ENST00000369575.3	-	4	707	c.676C>A	c.(676-678)Ctg>Atg	p.L226M	GAB3_ENST00000496390.1_Intron|GAB3_ENST00000424127.2_Missense_Mutation_p.L227M	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	226										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AGCGGCTGCAGGCAGTCAACA	0.547													T	153940894	G	T	153940894	3	4	364	1	0	0	0	0	1	0	0	0	6202	991	35	4	1112	4	GAB3	23	153940894	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	282	153940894	1329666	15643	39145											
GAB3	139716	broad.mit.edu	37	chrX	153941611	153941611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggtcatctcttggcaaaGaggagctggcagcatgggcg	8	9	16	8	1	2	1	1	0	1	1	3	2	2	2	0	5	2	4	0	5	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153941611G>T	ENST00000369575.3	-	3	495	c.464C>A	c.(463-465)tCt>tAt	p.S155Y	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S156Y	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	155										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TCTTGGCAAAGAGGAGCTGGC	0.527													T	153941611	G	T	153941611	3	4	364	1	0	0	0	0	1	0	0	0	6202	942	33	4	1328	4	GAB3	23	153941611	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	717	153941611	1328949	15644	39146											
DKC1	1736	broad.mit.edu	37	chrX	153993731	153993731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcgaaggaaatacaacacGctgaagaatttcttatcaaa	17	10	7	7	2	2	2	1	1	1	1	3	4	2	3	0	1	2	1	0	1	8	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153993731G>A	ENST00000369550.5	+	3	307	c.97G>A	c.(97-99)Gct>Act	p.A33T		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	33					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AATACAACACGCTGAAGAATT	0.388									Congenital Dyskeratosis				A	153993731	G	A	153993731	3	1	364	1	0	0	0	0	1	0	0	0	4581	1087	38	1	107	1	DKC1	23	153993731	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	52120	153993731	1276829	15645	39147											
DKC1	1736	broad.mit.edu	37	chrX	153994250	153994250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggttcaaatcctctgaaGagagagattggggactatat	12	12	12	5	0	2	3	1	1	1	2	3	6	3	4	1	3	0	1	1	3	4	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:153994250G>T	ENST00000369550.5	+	4	450	c.240G>T	c.(238-240)aaG>aaT	p.K80N		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	80					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATCCTCTGAAGAGAGAGATTG	0.398									Congenital Dyskeratosis				T	153994250	G	T	153994250	3	4	364	1	0	0	0	0	1	0	0	0	4581	933	33	4	254	4	DKC1	23	153994250	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	519	153994250	1276310	15646	39148											
DKC1	1736	broad.mit.edu	37	chrX	154004499	154004499	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgaaagtgacgagactcCtccagcagctcctcagttga	11	8	11	11	1	1	4	1	3	0	1	4	6	4	4	3	0	2	3	3	0	1	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154004499C>A	ENST00000369550.5	+	14	1586	c.1376C>A	c.(1375-1377)cCt>cAt	p.P459H	DKC1_ENST00000475966.1_3'UTR	NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	459	Nuclear and nucleolar localization.				cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACGAGACTCCTCCAGCAGCT	0.493									Congenital Dyskeratosis				A	154004499	C	A	154004499	3	1	364	1	0	0	0	0	1	0	0	0	4581	681	24	4	1430	4	DKC1	23	154004499	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	10249	154004499	1266061	15647	39149											
MPP1	4354	broad.mit.edu	37	chrX	154020423	154020423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacgggggattaccatgggCtcttctgtgaccttctcaaa	8	12	11	10	1	3	2	1	2	3	0	4	3	3	3	2	3	1	1	2	3	2	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154020423C>T	ENST00000413259.3	-	3	542	c.150G>A	c.(148-150)gaG>gaA	p.E50E	MPP1_ENST00000393531.1_Silent_p.E80E|MPP1_ENST00000369534.3_Silent_p.E80E|MPP1_ENST00000462825.1_Intron	NM_001166462.1	NP_001159934.1	Q00013	EM55_HUMAN	membrane protein, palmitoylated 1, 55kDa	80					regulation of neutrophil chemotaxis|signal transduction	integral to plasma membrane|membrane fraction|stereocilium	guanylate kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(9)|ovary(2)|prostate(1)	21	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TTACCATGGGCTCTTCTGTGA	0.557													T	154020423	C	T	154020423	2	4	364	1	0	0	0	0	0	0	0	1	9809	796	28	2		2	MPP1	23	154020423	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	15924	154020423	1250137	15648	39150											
F8	2157	broad.mit.edu	37	chrX	154088874	154088874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacttgcagccactcttttgGattattcacctgagggcaat	9	13	8	11	0	2	1	1	1	1	0	2	2	2	2	2	2	2	2	2	2	2	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154088874G>A	ENST00000360256.4	-	25	6933	c.6733C>T	c.(6733-6735)Cca>Tca	p.P2245S	F8_ENST00000330287.6_Missense_Mutation_p.P110S	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2245	F5/8 type C 2.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACTCTTTTGGATTATTCACC	0.443													A	154088874	G	A	154088874	3	1	364	1	0	0	0	0	1	0	0	0	5392	1174	41	2	330	2	F8	23	154088874	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	68451	154088874	1181686	15649	39151											
F8	2157	broad.mit.edu	37	chrX	154091391	154091391	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccatcaactccatgcgaaGagtgctgcgaatgctataat	12	9	9	11	2	1	1	1	0	0	1	2	3	2	1	2	0	5	2	2	0	5	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154091391G>T	ENST00000360256.4	-	23	6741	c.6541C>A	c.(6541-6543)Ctt>Att	p.L2181I	F8_ENST00000330287.6_Missense_Mutation_p.L46I	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2181	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCATGCGAAGAGTGCTGCGA	0.418													T	154091391	G	T	154091391	3	4	364	1	0	0	0	0	1	0	0	0	5392	942	33	4	530	4	F8	23	154091391	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	2517	154091391	1179169	15650	39152											
F8	2157	broad.mit.edu	37	chrX	154132706	154132706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtgaaaaacagagcaaattCctgtactgtcacttgtctcc	12	11	8	10	0	2	2	1	1	1	1	4	2	3	2	2	1	3	2	2	1	4	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154132706C>T	ENST00000360256.4	-	17	5880	c.5680G>A	c.(5680-5682)Gaa>Aaa	p.E1894K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1894	F5/8 type A 3.|Plastocyanin-like 6.		E -> G (in HEMA; moderate).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGAGCAAATTCCTGTACTGTC	0.468													T	154132706	C	T	154132706	3	4	364	1	0	0	0	0	1	0	0	0	5392	864	30	2	1443	2	F8	23	154132706	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	41315	154132706	1137854	15651	39153											
F8	2157	broad.mit.edu	37	chrX	154133205	154133205	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaggcttgacaaagttttTtctaggttctgctccttgcc	7	17	8	9	0	2	1	0	1	2	0	3	1	3	1	2	2	2	4	2	2	3	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133205T>G	ENST00000360256.4	-	16	5667	c.5467A>C	c.(5467-5469)Aaa>Caa	p.K1823Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1823	F5/8 type A 3.|Plastocyanin-like 5.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	ACAAAGTTTTTTCTAGGTTCT	0.408													G	154133205	T	G	154133205	3	3	364	1	0	0	0	0	1	0	0	0	5392	1850	64	5	1660	5	F8	23	154133205	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	499	154133205	1137355	15652	39154											
F8	2157	broad.mit.edu	37	chrX	154133299	154133299	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgatttctgaaagttacCtgtagaacaataacgacaaa	16	10	7	8	1	1	3	0	2	1	1	1	4	1	3	2	0	3	2	2	0	7	4			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154133299C>A	ENST00000360256.4	-	16	5574		c.e16-1			NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component						acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TGAAAGTTACCTGTAGAACAA	0.368													A	154133299	C	A	154133299	5	1	364	1	0	0	0	0	0	0	1	0	5392	695	24	4	1754	4	F8	23	154133299	Splice_Site	SNP	C	TCGA-DU-6392-01A-11D-1705-08	94	154133299	1137261	15653	39155											
F8	2157	broad.mit.edu	37	chrX	154156921	154156921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcagcaataaaatagtgtCgtgttttcttttgaaagctg	11	15	9	6	1	1	1	0	1	1	0	2	1	1	1	0	0	3	4	0	0	5	6			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154156921C>T	ENST00000360256.4	-	14	5344	c.5144G>A	c.(5143-5145)cGa>cAa	p.R1715Q		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1715	F5/8 type A 3.|Plastocyanin-like 5.		R -> G (in HEMA; mild).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAAATAGTGTCGTGTTTTCTT	0.398													T	154156921	C	T	154156921	3	4	364	1	0	0	0	0	1	0	0	0	5392	884	31	1	1991	1	F8	23	154156921	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	23622	154156921	1113639	15654	39156											
F8	2157	broad.mit.edu	37	chrX	154158779	154158779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctcttttttctgttggaCcatttccatgttttttgatg	4	21	7	9	0	2	1	0	1	2	0	3	2	3	2	3	1	0	2	3	1	0	8			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154158779C>T	ENST00000360256.4	-	14	3486	c.3286G>A	c.(3286-3288)Gtc>Atc	p.V1096I		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1096	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCTGTTGGACCATTTCCATG	0.378													T	154158779	C	T	154158779	3	4	364	1	0	0	0	0	1	0	0	0	5392	507	18	2	3849	2	F8	23	154158779	Missense_Mutation	SNP	C	TCGA-DU-6392-01A-11D-1705-08	1858	154158779	1111781	15655	39157											
F8	2157	broad.mit.edu	37	chrX	154159626	154159626	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagtaggactctgtcgCaagagcatcaacaaatcact	13	9	10	9	1	3	1	2	0	1	1	4	3	3	3	0	2	2	3	0	2	4	1			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154159626C>T	ENST00000360256.4	-	14	2639	c.2439G>A	c.(2437-2439)ttG>ttA	p.L813L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	813	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GACTCTGTCGCAAGAGCATCA	0.418													T	154159626	C	T	154159626	2	4	364	1	0	0	0	0	0	0	0	1	5392	709	25	2		2	F8	23	154159626	Silent	SNP	C	TCGA-DU-6392-01A-11D-1705-08	847	154159626	1110934	15656	39158											
F8	2157	broad.mit.edu	37	chrX	154194307	154194307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattcctgattcatgctgaaTagcttcacgagtcttaaagg	11	13	9	8	1	3	2	2	2	1	0	4	4	4	2	1	1	2	2	1	1	4	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154194307T>C	ENST00000360256.4	-	9	1581	c.1381A>G	c.(1381-1383)Att>Gtt	p.I461V	F8_ENST00000483822.1_5'UTR	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	461	F5/8 type A 2.|Plastocyanin-like 3.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCATGCTGAATAGCTTCACGA	0.393													C	154194307	T	C	154194307	3	2	364	1	0	0	0	0	1	0	0	0	5392	1406	49	3	5774	3	F8	23	154194307	Missense_Mutation	SNP	T	TCGA-DU-6392-01A-11D-1705-08	34681	154194307	1076253	15657	39159											
VBP1	7411	broad.mit.edu	37	chrX	154456691	154456691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccaactcaatggagaccaGattcttgctggcagataacc	13	8	8	12	0	2	3	1	0	1	3	2	4	2	3	3	2	3	2	3	2	3	3			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154456691G>A	ENST00000286428.5	+	4	428	c.311G>A	c.(310-312)aGa>aAa	p.R104K	VBP1_ENST00000535916.1_Missense_Mutation_p.R99K	NM_003372.5	NP_003363.1	P61758	PFD3_HUMAN	von Hippel-Lindau binding protein 1	104					'de novo' posttranslational protein folding	nucleus|prefoldin complex	unfolded protein binding			NS(1)|endometrium(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					ATGGAGACCAGATTCTTGCTG	0.408													A	154456691	G	A	154456691	3	1	364	1	0	0	0	0	1	0	0	0	17238	942	33	2	325	2	VBP1	23	154456691	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	262384	154456691	813869	15658	39160											
CLIC2	1193	broad.mit.edu	37	chrX	154528182	154528182	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttatacaccaggaacggaGgattggtacctggggctaag	11	9	14	7	1	0	0	0	0	0	0	0	3	0	3	2	6	3	3	2	6	5	5			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154528182G>T	ENST00000369449.2	-	3	427	c.209C>A	c.(208-210)cCt>cAt	p.P70H	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	70	N-terminal.|Required for insertion into the membrane (By similarity).				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CAGGAACGGAGGATTGGTACC	0.373													T	154528182	G	T	154528182	3	4	364	1	0	0	0	0	1	0	0	0	3557	1000	35	4	550	4	CLIC2	23	154528182	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	71491	154528182	742378	15659	39161											
TMLHE	55217	broad.mit.edu	37	chrX	154754131	154754131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacaagtgaaaaagagtGtggtctcatccagacgaatg	15	8	10	8	1	2	3	2	1	1	2	4	4	3	3	1	1	0	0	1	1	4	0			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:154754131G>A	ENST00000334398.3	-	3	489	c.344C>T	c.(343-345)aCa>aTa	p.T115I	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.T115I	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	115					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	GAAAAAGAGTGTGGTCTCATC	0.443													A	154754131	G	A	154754131	3	1	364	1	0	0	0	0	1	0	0	0	16332	1377	48	2	1085	2	TMLHE	23	154754131	Missense_Mutation	SNP	G	TCGA-DU-6392-01A-11D-1705-08	225949	154754131	516429	15660	39162											
IL9R	3581	broad.mit.edu	37	chrX	155231119	155231119	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagagaacttgccacGgtgtttcatgctgtggctgg	6	12	14	9	1	1	1	1	0	0	1	1	2	1	1	1	3	5	5	1	3	1	2			TCGA-DU-6392-01A-11D-1705-08	TCGA-DU-6392-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d27fc09-898f-4754-bacb-74a37e58e750	b920e72f-849d-4a63-a5ca-05a7b02103e4	g.chrX:155231119G>A	ENST00000424344.3	+	0	254				IL9R_ENST00000369423.2_Missense_Mutation_p.G31S|IL9R_ENST00000540897.1_Missense_Mutation_p.G21S|IL9R_ENST00000244174.5_Intron			Q01113	IL9R_HUMAN	interleukin 9 receptor						cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					AACTTGCCACGGTGTTTCATG	0.547													A	155231119	G	A	155231119	1	1	364	1	0	0	0	0	0	0	0	0	7766	1131	39	1		1	IL9R	23	155231119	Translation_Start_Site	SNP	G	TCGA-DU-6392-01A-11D-1705-08	476988	155231119	39441	15661	39163											
MTOR	2475	broad.mit.edu	37	chr1	11177096	11177096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatatacccaaccattgaCatgaccgctaaagaacgggt	17	7	7	10	2	0	3	0	2	0	1	0	3	0	3	3	1	3	1	3	1	8	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:11177096C>T	ENST00000361445.4	-	50	7057	c.6981G>A	c.(6979-6981)atG>atA	p.M2327I	MTOR_ENST00000376838.1_Missense_Mutation_p.M532I	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2327	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CAACCATTGACATGACCGCTA	0.383													T	11177096	C	T	11177096	3	4	365	1	0	0	0	0	1	0	0	0	10030	478	17	2	704	2	MTOR	1	11177096	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		11177096	238073525	1	39164											
INSL5	10022	broad.mit.edu	37	chr1	67266844	67266844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcacagactccttgctccGcacttctgagatggcaaata	10	11	7	13	1	2	2	1	1	2	2	5	3	4	2	2	1	1	3	2	1	2	3	rs146406445	byFrequency	TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:67266844G>A	ENST00000304526.2	-	1	95	c.61C>T	c.(61-63)Cgg>Tgg	p.R21W		NM_005478.4	NP_005469.2	Q9Y5Q6	INSL5_HUMAN	insulin-like 5	21						extracellular region	hormone activity			breast(2)|endometrium(1)|lung(5)	8						TCCTTGCTCCGCACTTCTGAG	0.453													A	67266844	G	A	67266844	3	1	365	1	0	0	0	0	1	0	0	0	7827	1086	38	1	354	1	INSL5	1	67266844	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	56089748	67266844	181983777	2	39165											
ASB17	127247	broad.mit.edu	37	chr1	76387892	76387892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcgaagggtagagtactAttgttaagacaatgttgata	13	13	10	5	1	1	3	0	1	1	2	2	4	1	3	0	1	1	4	0	1	7	7			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:76387892A>G	ENST00000284142.6	-	2	693	c.554T>C	c.(553-555)aTa>aCa	p.I185T		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	185					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						GTAGAGTACTATTGTTAAGAC	0.358													G	76387892	A	G	76387892	3	3	365	1	0	0	0	0	1	0	0	0	1026	449	16	3	341	3	ASB17	1	76387892	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	9121048	76387892	172862729	3	39166											
TCHH	7062	broad.mit.edu	37	chr1	152085364	152085364	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttgcctgcgatcttgtAacaggctctcctttccgtca	5	15	7	14	2	4	0	1	0	3	0	6	1	5	0	3	1	3	2	3	1	1	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152085364A>G	ENST00000368804.1	-	2	328	c.329T>C	c.(328-330)tTa>tCa	p.L110S		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	110					keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCGATCTTGTAACAGGCTCTC	0.542													G	152085364	A	G	152085364	3	3	365	1	0	0	0	0	1	0	0	0	15800	372	13	3	5506	3	TCHH	1	152085364	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	75697472	152085364	97165257	4	39167											
HRNR	388697	broad.mit.edu	37	chr1	152187067	152187067	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaggactgccatgagctAgactcgtggtgaccaaatcc	11	7	11	12	1	0	4	0	2	0	2	2	5	1	5	4	2	2	1	4	2	2	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:152187067A>T	ENST00000368801.2	-	3	7113	c.7038T>A	c.(7036-7038)tcT>tcA	p.S2346S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2346					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCCATGAGCTAGACTCGTGGT	0.572													T	152187067	A	T	152187067	2	4	365	1	0	0	0	0	0	0	0	1	7414	407	15	5		5	HRNR	1	152187067	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	101703	152187067	97063554	5	39168											
FCRL1	115350	broad.mit.edu	37	chr1	157766909	157766909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accttgtcctccatatgtgtCcccagggtttctgctgtgga	5	14	10	12	0	1	0	0	0	1	0	4	1	4	1	5	2	1	2	5	2	1	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr1:157766909C>T	ENST00000358292.3	-	9	1124	c.1073G>A	c.(1072-1074)gGa>gAa	p.G358E	FCRL1_ENST00000491942.1_Silent_p.G399G|FCRL1_ENST00000368176.3_Silent_p.G400G|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	0						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CCATATGTGTCCCCAGGGTTT	0.403													T	157766909	C	T	157766909	3	4	365	1	0	0	0	0	1	0	0	0	5843	855	30	2	97	2	FCRL1	1	157766909	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	5579842	157766909	91483712	6	39169											
TTN	7273	broad.mit.edu	37	chr2	179614115	179614115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggttcttgaagcaccatGcacaaatctgggaatttttt	11	15	8	7	0	2	1	0	1	2	0	2	2	2	2	1	2	2	3	1	2	4	6			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:179614115G>A	ENST00000360870.5	-	46	13234	c.13012C>T	c.(13012-13014)Cat>Tat	p.H4338Y	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	472	Ig-like 23.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAAGCACCATGCACAAATCTG	0.403													A	179614115	G	A	179614115	3	1	365	1	0	0	0	0	1	0	0	0	16837	1319	46	2	97285	2	TTN	2	179614115	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		179614115	63585258	7	39170											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	365	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	29498997	209113112	34086261	8	39171											
DIS3L2	129563	broad.mit.edu	37	chr2	233028242	233028242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatactaacagagtatggcGtggatttctctgatttctct	10	15	9	7	1	2	2	0	1	2	1	4	4	2	3	0	2	2	1	0	2	4	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr2:233028242G>A	ENST00000325385.7	+	9	1300	c.1024G>A	c.(1024-1026)Gtg>Atg	p.V342M	DIS3L2_ENST00000409307.1_Missense_Mutation_p.V342M|DIS3L2_ENST00000273009.6_Missense_Mutation_p.V342M	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	342							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		AGAGTATGGCGTGGATTTCTC	0.453													A	233028242	G	A	233028242	3	1	365	1	0	0	0	0	1	0	0	0	4576	1145	40	1	1054	1	DIS3L2	2	233028242	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	23915130	233028242	10171131	9	39172											
ZBTB20	26137	broad.mit.edu	37	chr3	114069362	114069362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctgaagaggaaaggcttGgggccactgcccgcgggctg	8	5	18	10	2	0	2	0	1	0	1	0	3	0	3	2	6	1	3	2	6	2	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:114069362G>A	ENST00000462705.1	-	11	2165	c.1344C>T	c.(1342-1344)ccC>ccT	p.P448P	ZBTB20_ENST00000357258.3_Silent_p.P448P|ZBTB20_ENST00000464560.1_Silent_p.P448P|ZBTB20_ENST00000474710.1_Silent_p.P521P|ZBTB20_ENST00000393785.2_Silent_p.P448P|ZBTB20_ENST00000471418.1_Silent_p.P448P|ZBTB20_ENST00000481632.1_Silent_p.P448P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	521					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAAAGGCTTGGGGCCACTGC	0.627													A	114069362	G	A	114069362	2	1	365	1	0	0	0	0	0	0	0	1	17630	1335	47	2		2	ZBTB20	3	114069362	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08		114069362	83953068	10	39173											
BFSP2	8419	broad.mit.edu	37	chr3	133119336	133119336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagctggaaacacaactgCggatgcacctggagagcaaa	15	4	13	9	1	0	1	0	0	0	1	0	5	0	4	1	4	6	3	1	4	3	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr3:133119336C>T	ENST00000302334.2	+	1	498	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	137	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AACACAACTGCGGATGCACCT	0.607													T	133119336	C	T	133119336	3	4	365	1	0	0	0	0	1	0	0	0	1422	759	27	1	411	1	BFSP2	3	133119336	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	19049974	133119336	64903094	11	39174											
GPR98	84059	broad.mit.edu	37	chr5	90000251	90000251	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttgttggatgacaacAttcctgaggagaaagaagta	14	11	11	5	0	0	4	0	2	0	2	1	6	1	5	1	2	2	3	1	2	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:90000251A>T	ENST00000405460.2	+	36	8428	c.8332A>T	c.(8332-8334)Att>Ttt	p.I2778F		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2778	Calx-beta 19.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGATGACAACATTCCTGAGGA	0.333													T	90000251	A	T	90000251	3	4	365	1	0	0	0	0	1	0	0	0	6776	217	8	5	8474	5	GPR98	5	90000251	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08		90000251	90915009	12	39175											
FNIP1	96459	broad.mit.edu	37	chr5	131013435	131013435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttatatggatgagtctttgCcaacatgtccacactctgag	10	13	9	9	0	2	2	0	2	2	0	3	3	3	3	2	1	2	1	2	1	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr5:131013435C>T	ENST00000307968.7	-	12	1395	c.1396G>A	c.(1396-1398)Gca>Aca	p.A466T	FNIP1_ENST00000511848.1_Missense_Mutation_p.A494T|FNIP1_ENST00000510461.1_Missense_Mutation_p.A494T|FNIP1_ENST00000307954.8_Missense_Mutation_p.A449T|CTC-432M15.3_ENST00000514667.1_Intron	NM_001008738.2	NP_001008738			folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TGAGTCTTTGCCAACATGTCC	0.383													T	131013435	C	T	131013435	3	4	365	1	0	0	0	0	1	0	0	0	6024	739	26	2	2044	2	FNIP1	5	131013435	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	41013184	131013435	49901825	13	39176											
RELN	5649	broad.mit.edu	37	chr7	103180840	103180840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagaatactgtaggagcacgGgttgactcctggggtcagga	10	8	16	7	1	1	2	1	1	0	1	2	5	2	4	1	5	2	3	1	5	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:103180840G>A	ENST00000428762.1	-	44	6893	c.6734C>T	c.(6733-6735)cCc>cTc	p.P2245L	RELN_ENST00000424685.2_Missense_Mutation_p.P2245L|RELN_ENST00000343529.5_Missense_Mutation_p.P2245L	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2245					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TAGGAGCACGGGTTGACTCCT	0.488													A	103180840	G	A	103180840	3	1	365	1	0	0	0	0	1	0	0	0	13308	1232	43	2	3736	2	RELN	7	103180840	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		103180840	55957823	14	39177											
KLF14	136259	broad.mit.edu	37	chr7	130418291	130418291	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggtggcgcttggcagcAggtgtgacagacctcctccg	6	9	14	12	2	0	2	0	1	0	1	2	2	2	2	3	4	1	3	3	4	0	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:130418291A>G	ENST00000310992.4	-	1	597	c.570T>C	c.(568-570)ccT>ccC	p.P190P		NM_138693.2	NP_619638.2	Q8TD94	KLF14_HUMAN	Kruppel-like factor 14	190					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(3)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(18;0.0435)					GCTTGGCAGCAGGTGTGACAG	0.701													G	130418291	A	G	130418291	2	3	365	1	0	0	0	0	0	0	0	1	8400	175	7	3		3	KLF14	7	130418291	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	27237451	130418291	28720372	15	39178											
MKRN1	23608	broad.mit.edu	37	chr7	140154990	140154990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaacagttccctccaaatgGgcagctcccacgtccttcat	11	9	6	15	1	1	0	1	0	0	0	5	0	5	0	4	1	2	3	4	1	3	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:140154990G>A	ENST00000255977.2	-	7	1365	c.1141C>T	c.(1141-1143)Cca>Tca	p.P381S	MKRN1_ENST00000437223.2_Missense_Mutation_p.P115S|MKRN1_ENST00000474576.1_Missense_Mutation_p.P317S	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	381							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CCTCCAAATGGGCAGCTCCCA	0.483													A	140154990	G	A	140154990	3	1	365	1	0	0	0	0	1	0	0	0	9681	1232	43	2	315	2	MKRN1	7	140154990	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	9736699	140154990	18983673	16	39179											
EPHB6	2051	broad.mit.edu	37	chr7	142564303	142564303	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatcacggtgtcctggccGcagcccgaccagaccaatgg	9	5	12	15	3	1	1	1	0	0	1	2	2	2	1	5	3	2	2	5	3	1	0	rs111424188		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:142564303G>A	ENST00000392957.2	+	10	2314	c.1527G>A	c.(1525-1527)ccG>ccA	p.P509P	EPHB6_ENST00000411471.2_Silent_p.P232P|EPHB6_ENST00000442129.1_Silent_p.P509P	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	509	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTCCTGGCCGCAGCCCGACC	0.582													A	142564303	G	A	142564303	2	1	365	1	0	0	0	0	0	0	0	1	5219	1074	38	1		1	EPHB6	7	142564303	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	2409313	142564303	16574360	17	39180											
SSPO	23145	broad.mit.edu	37	chr7	149499116	149499117	+	RNA	DEL	AT	AT	-																															ccctctgagccccggcccccAtgcccctgcagtggactgcg																								rs61047652		TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr7:149499116_149499117delAT	ENST00000378016.2	+	0	7495							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCCGGCCCCCATGCCCCTGCAG	0.703													-	149499117	AT	-	149499116	6	5	365	0	1	1	0	1	0	0	0	0	15285	232	8	0		0	SSPO	7	149499116	RNA	DEL	AT	TCGA-DU-6393-01A-11D-1705-08	6934813	149499116	9639547	18	39181											
PROSC	11212	broad.mit.edu	37	chr8	37623846	37623846	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacttcattggccacctaCagaaacaaaatgtcaacaaa	17	7	6	11	0	2	1	2	0	0	1	2	1	2	1	2	2	3	1	2	2	6	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:37623846C>G	ENST00000328195.3	+	4	359	c.292C>G	c.(292-294)Cag>Gag	p.Q98E		NM_007198.3	NP_009129.1	O94903	PROSC_HUMAN	proline synthetase co-transcribed homolog (bacterial)	98							pyridoxal phosphate binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)	7		Lung NSC(58;0.174)	BRCA - Breast invasive adenocarcinoma(5;6.14e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)		L-Proline(DB00172)|Pyridoxal Phosphate(DB00114)	TGGCCACCTACAGAAACAAAA	0.358													G	37623846	C	G	37623846	3	3	365	1	0	0	0	0	1	0	0	0	12645	479	17	4	306	4	PROSC	8	37623846	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		37623846	108740176	19	39182											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945444	119945444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtaccaggaggacatttGtcacacaacagctgatgaga	14	8	11	8	0	1	2	1	2	0	1	1	5	1	4	1	3	3	2	1	3	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr8:119945444G>A	ENST00000297350.4	-	2	504	c.126C>T	c.(124-126)gaC>gaT	p.D42D		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	42					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			GAGGACATTTGTCACACAACA	0.483													A	119945444	G	A	119945444	2	1	365	1	0	0	0	0	0	0	0	1	16385	1368	48	2		2	TNFRSF11B	8	119945444	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	82321598	119945444	26418578	20	39183											
GLIS3	169792	broad.mit.edu	37	chr9	3829411	3829411	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaacgaaggcaccacaCtgcaggagctgacaggcggc	12	3	12	14	2	1	1	1	1	0	0	1	3	1	2	2	4	3	3	2	4	2	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:3829411C>G	ENST00000324333.10	-	9	2283	c.2090G>C	c.(2089-2091)aGt>aCt	p.S697T	GLIS3_ENST00000461870.1_5'UTR|GLIS3_ENST00000381971.3_Missense_Mutation_p.S852T	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	697					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		AGGCACCACACTGCAGGAGCT	0.542													G	3829411	C	G	3829411	3	3	365	1	0	0	0	0	1	0	0	0	6503	565	20	4	245	4	GLIS3	9	3829411	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		3829411	137384020	21	39184											
TAF1L	138474	broad.mit.edu	37	chr9	32630690	32630690	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccttctcaagttgagtcaAatgctcatcatactcagtaa	13	13	5	10	0	5	1	5	1	1	0	7	1	6	1	1	0	2	3	1	0	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:32630690A>G	ENST00000242310.4	-	1	4977	c.4888T>C	c.(4888-4890)Ttg>Ctg	p.L1630L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1630					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGTTGAGTCAAATGCTCATCA	0.433													G	32630690	A	G	32630690	2	3	365	1	0	0	0	0	0	0	0	1	15620	11	1	3		3	TAF1L	9	32630690	Silent	SNP	A	TCGA-DU-6393-01A-11D-1705-08	28801279	32630690	108582741	22	39185											
CRAT	1384	broad.mit.edu	37	chr9	131857756	131857756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaatgcgccaggcgggCggcgttggtctccgcgcagc	5	6	17	13	6	1	0	0	0	1	0	2	0	1	0	2	5	2	3	2	5	1	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr9:131857756C>T	ENST00000318080.2	-	14	2095	c.1801G>A	c.(1801-1803)Gcc>Acc	p.A601T		NM_000755.3|NM_001257363.1	NP_000746|NP_001244292.1	P43155	CACP_HUMAN	carnitine O-acetyltransferase	601					energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA oxidase|transport	endoplasmic reticulum|mitochondrial inner membrane|peroxisomal matrix	carnitine O-acetyltransferase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(4)|skin(1)|urinary_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (4;0.0178)	L-Carnitine(DB00583)	GCCAGGCGGGCGGCGTTGGTC	0.667													T	131857756	C	T	131857756	3	4	365	1	0	0	0	0	1	0	0	0	3878	768	27	1	83	1	CRAT	9	131857756	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08	99227066	131857756	9355675	23	39186											
QSER1	79832	broad.mit.edu	37	chr11	32955602	32955603	+	In_Frame_Ins	INS	-	-	ATT																															ctctctgagtcttcaaaaccINSattacaacaacatctaacaa																										TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:32955602_32955603insATT	ENST00000399302.2	+	4	2746_2747	c.2411_2412insATT	c.(2410-2415)ccatta>ccATTatta	p.805_806insL	QSER1_ENST00000527788.1_In_Frame_Ins_p.566_567insL	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	805										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					TCTTCAAAACCATTACAACAAC	0.376													ATT	32955603	-	ATT	32955602	7	5	365	1	0	1	1	0	0	0	0	0	12970	594	21	0	2417	0	QSER1	11	32955602	In_Frame_Ins	INS	-	TCGA-DU-6393-01A-11D-1705-08		32955602	102050914	24	39187											
OR10S1	219873	broad.mit.edu	37	chr11	123847515	123847515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaatgggttgagcattGgagttacgattgtgtagaag	13	12	14	2	1	0	3	0	2	0	1	0	5	0	4	0	2	2	4	0	2	5	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr11:123847515G>A	ENST00000531945.1	-	1	973	c.884C>T	c.(883-885)cCa>cTa	p.P295L		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTTGAGCATTGGAGTTACGAT	0.542													A	123847515	G	A	123847515	3	1	365	1	0	0	0	0	1	0	0	0	10994	1348	47	2	115	2	OR10S1	11	123847515	Missense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08	90891913	123847515	11159001	25	39188											
GRIN2B	2904	broad.mit.edu	37	chr12	13716187	13716187	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggctcccatccatgaatcGgcccttgtctttcaggctta	6	12	10	13	1	2	1	1	1	1	0	5	1	4	1	3	4	0	2	3	4	2	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr12:13716187G>A	ENST00000609686.1	-	13	4194	c.3985C>T	c.(3985-3987)Cga>Tga	p.R1329*		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TCCATGAATCGGCCCTTGTCT	0.597													A	13716187	G	A	13716187	4	1	365	1	0	0	0	0	0	1	0	0	6835	1124	39	1	473	1	GRIN2B	12	13716187	Nonsense_Mutation	SNP	G	TCGA-DU-6393-01A-11D-1705-08		13716187	120135708	26	39189											
FRY	10129	broad.mit.edu	37	chr13	32869503	32869503	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caccaagctgatggagctgaAcatggagatccgggacatga	13	6	13	9	1	0	4	0	3	0	1	1	7	1	6	2	3	3	2	2	3	2	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:32869503A>G	ENST00000380250.3	+	61	9444	c.8948A>G	c.(8947-8949)aAc>aGc	p.N2983S	FRY_ENST00000542859.1_Missense_Mutation_p.N353S|FRY_ENST00000380217.1_Missense_Mutation_p.N165S	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	2983					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATGGAGCTGAACATGGAGATC	0.532													G	32869503	A	G	32869503	3	3	365	1	0	0	0	0	1	0	0	0	6115	43	2	3	9190	3	FRY	13	32869503	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08		32869503	82300375	27	39190											
TUBGCP3	10426	broad.mit.edu	37	chr13	113140437	113140437	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtcagagctggtcgtcAgtaacaccaaaaactgctgc	11	9	9	12	2	3	1	2	0	1	1	5	1	3	1	1	1	5	3	1	1	3	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr13:113140437A>G	ENST00000261965.3	-	22	2780	c.2594T>C	c.(2593-2595)cTg>cCg	p.L865P		NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	865					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GCTGGTCGTCAGTAACACCAA	0.473													G	113140437	A	G	113140437	3	3	365	1	0	0	0	0	1	0	0	0	16869	188	7	3	133	3	TUBGCP3	13	113140437	Missense_Mutation	SNP	A	TCGA-DU-6393-01A-11D-1705-08	80270934	113140437	2029441	28	39191											
ADAM10	102	broad.mit.edu	37	chr15	58925546	58925546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttacttttttcacatattCctccagagcttcctaatcca	9	17	3	12	0	1	1	1	0	0	1	5	1	5	1	4	0	2	2	4	0	3	9			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:58925546C>T	ENST00000260408.3	-	9	1468	c.1025G>A	c.(1024-1026)gGa>gAa	p.G342E	ADAM10_ENST00000396140.2_Missense_Mutation_p.G41E|ADAM10_ENST00000561288.1_Intron|ADAM10_ENST00000402627.1_Missense_Mutation_p.G41E	NM_001110.2	NP_001101.1	O14672	ADA10_HUMAN	ADAM metallopeptidase domain 10	342	Peptidase M12B.				cell-cell signaling|constitutive protein ectodomain proteolysis|epidermal growth factor receptor signaling pathway|in utero embryonic development|integrin-mediated signaling pathway|monocyte activation|negative regulation of cell adhesion|Notch receptor processing|Notch signaling pathway|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of T cell chemotaxis|protein phosphorylation|response to tumor necrosis factor	cell surface|endomembrane system|Golgi-associated vesicle|integral to membrane|nucleus|plasma membrane	integrin binding|metalloendopeptidase activity|protein homodimerization activity|protein kinase binding|SH3 domain binding|zinc ion binding			breast(1)|endometrium(1)|kidney(5)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(3)	27				GBM - Glioblastoma multiforme(80;0.202)		TTCACATATTCCTCCAGAGCT	0.343													T	58925546	C	T	58925546	3	4	365	1	0	0	0	0	1	0	0	0	234	855	30	2	1253	2	ADAM10	15	58925546	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		58925546	43605846	29	39192											
ISL2	64843	broad.mit.edu	37	chr15	76630688	76630688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtaccacatcgagtgctTccgctgctccgtgtgcagcc	5	10	11	15	4	0	0	0	0	0	0	3	1	2	0	4	0	5	5	4	0	1	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr15:76630688T>C	ENST00000290759.4	+	3	504	c.344T>C	c.(343-345)tTc>tCc	p.F115S		NM_145805.1	NP_665804.1	Q96A47	ISL2_HUMAN	ISL LIM homeobox 2	115	LIM zinc-binding 2.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6						ATCGAGTGCTTCCGCTGCTCC	0.682													C	76630688	T	C	76630688	3	2	365	1	0	0	0	0	1	0	0	0	7915	1783	62	3	354	3	ISL2	15	76630688	Missense_Mutation	SNP	T	TCGA-DU-6393-01A-11D-1705-08	17705142	76630688	25900704	30	39193											
HEATR3	55027	broad.mit.edu	37	chr16	50136288	50136288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taaagaagccgaaagagcctCgattcaaattaaattattat	18	11	6	6	2	1	2	1	0	0	2	2	4	1	2	2	0	2	0	2	0	9	5			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr16:50136288C>T	ENST00000299192.7	+	14	2053	c.1862C>T	c.(1861-1863)tCg>tTg	p.S621L	RP11-429P3.5_ENST00000566770.1_RNA|HEATR3_ENST00000285767.4_Missense_Mutation_p.S535L	NM_182922.2	NP_891552.1	Q7Z4Q2	HEAT3_HUMAN	HEAT repeat containing 3	621							binding			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	28						GAAAGAGCCTCGATTCAAATT	0.378													T	50136288	C	T	50136288	3	4	365	1	0	0	0	0	1	0	0	0	7084	893	31	1	1916	1	HEATR3	16	50136288	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		50136288	40218465	31	39194											
NOS2	4843	broad.mit.edu	37	chr17	26107803	26107803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcctacttacttgggatgttCcatggccacctcaagcacaa	10	10	8	13	0	1	0	1	0	0	0	2	1	2	1	4	2	3	2	4	2	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:26107803C>T	ENST00000313735.6	-	9	1227	c.994G>A	c.(994-996)Gaa>Aaa	p.E332K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	332					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TTGGGATGTTCCATGGCCACC	0.597													T	26107803	C	T	26107803	3	4	365	1	0	0	0	0	1	0	0	0	10619	864	30	2	2543	2	NOS2	17	26107803	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		26107803	55087407	32	39195											
WNT3	7473	broad.mit.edu	37	chr17	44845704	44845704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctacttgcaggtgtgcacGtcgtagatgcgaatacactc	9	10	10	12	3	0	1	0	0	0	1	2	2	0	1	1	1	5	3	1	1	4	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:44845704G>A	ENST00000225512.5	-	4	1212	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	350					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			AGGTGTGCACGTCGTAGATGC	0.607													A	44845704	G	A	44845704	2	1	365	1	0	0	0	0	0	0	0	1	17490	1136	40	1		1	WNT3	17	44845704	Silent	SNP	G	TCGA-DU-6393-01A-11D-1705-08	18737901	44845704	36349506	33	39196											
CACNA1G	8913	broad.mit.edu	37	chr17	48669423	48669423	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgctcttcaatttgctggtCgccattctggtggagggctt	4	15	13	9	1	3	0	1	0	2	0	4	1	3	1	1	4	2	3	1	4	1	4			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:48669423C>T	ENST00000352832.5	+	13	3252	c.2880C>T	c.(2878-2880)gtC>gtT	p.V960V	CACNA1G_ENST00000354983.4_Silent_p.V960V|CACNA1G_ENST00000429973.2_Silent_p.V960V|CACNA1G_ENST00000507510.2_Silent_p.V960V|CACNA1G_ENST00000502264.1_Silent_p.V960V|CACNA1G_ENST00000442258.2_Silent_p.V960V|CACNA1G_ENST00000513964.1_Silent_p.V960V|CACNA1G_ENST00000505165.1_Silent_p.V960V|CACNA1G_ENST00000503485.1_Silent_p.V960V|CACNA1G_ENST00000512389.1_Silent_p.V960V|CACNA1G_ENST00000360761.4_Silent_p.V960V|CACNA1G_ENST00000515411.1_Silent_p.V960V|CACNA1G_ENST00000514717.1_Silent_p.V960V|CACNA1G_ENST00000515165.1_Silent_p.V960V|CACNA1G_ENST00000514181.1_Silent_p.V960V|CACNA1G_ENST00000514079.1_Silent_p.V960V|CACNA1G_ENST00000359106.5_Silent_p.V960V|CACNA1G_ENST00000507609.1_Silent_p.V960V|CACNA1G_ENST00000513689.2_Silent_p.V960V|CACNA1G_ENST00000507336.1_Silent_p.V960V|CACNA1G_ENST00000510115.1_Silent_p.V960V|CACNA1G_ENST00000515765.1_Silent_p.V960V|CACNA1G_ENST00000507896.1_Silent_p.V960V|CACNA1G_ENST00000358244.5_Silent_p.V960V|CACNA1G_ENST00000416767.4_Silent_p.V960V|CACNA1G_ENST00000510366.1_Silent_p.V960V	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	960					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ATTTGCTGGTCGCCATTCTGG	0.572													T	48669423	C	T	48669423	2	4	365	1	0	0	0	0	0	0	0	1	2570	871	31	1		1	CACNA1G	17	48669423	Silent	SNP	C	TCGA-DU-6393-01A-11D-1705-08	3823719	48669423	32525787	34	39197											
SDK2	54549	broad.mit.edu	37	chr17	71429886	71429886	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctacctttctgccaagtgaTagctggtcggggcgcccccg	5	10	12	14	3	2	1	0	1	2	0	3	1	2	1	4	3	3	1	4	3	3	3			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr17:71429886T>C	ENST00000392650.3	-	10	1297	c.1297A>G	c.(1297-1299)Atc>Gtc	p.I433V	SDK2_ENST00000388726.3_Missense_Mutation_p.I433V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	433	Ig-like C2-type 5.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGCCAAGTGATAGCTGGTCGG	0.577													C	71429886	T	C	71429886	3	2	365	1	0	0	0	0	1	0	0	0	14062	1406	49	3	5365	3	SDK2	17	71429886	Missense_Mutation	SNP	T	TCGA-DU-6393-01A-11D-1705-08	22760463	71429886	9765324	35	39198											
CIC	23152	broad.mit.edu	37	chr19	42796321	42796322	+	Frame_Shift_Del	DEL	CT	CT	-																															gccacactccctggacccacCtctcagcctcagaaggtcct																										TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr19:42796321_42796322delCT	ENST00000572681.2	+	13	5765_5766	c.5697_5698delCT	c.(5695-5700)acctctfs	p.S1900fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.S991fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.S991fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	991					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTGGACCCACCTCTCAGCCTCA	0.663			"Mis, F, S"		oligodendroglioma								-	42796322	CT	-	42796321	7	5	365	1	0	1	0	1	0	0	0	0	3454	668	24	0	3016	0	CIC	19	42796321	Frame_Shift_Del	DEL	CT	TCGA-DU-6393-01A-11D-1705-08		42796321	16332662	36	39199											
XRN2	22803	broad.mit.edu	37	chr20	21328891	21328891	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgagaagggtacgaaaccGgtaagcttaattacttaaag	15	11	10	5	2	0	1	0	1	0	1	0	3	0	1	1	2	4	3	1	2	8	6			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr20:21328891G>A	ENST00000377191.3	+	18	1868	c.1773G>A	c.(1771-1773)ccG>ccA	p.P591P	XRN2_ENST00000430571.2_Splice_Site_p.P515P|XRN2_ENST00000539513.1_Splice_Site_p.P537P	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	591					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						GTACGAAACCGGTAAGCTTAA	0.338													A	21328891	G	A	21328891	5	1	365	1	0	0	0	0	0	0	1	0	17562	1130	39	1	1843	1	XRN2	20	21328891	Splice_Site	SNP	G	TCGA-DU-6393-01A-11D-1705-08		21328891	41696629	37	39200											
KRTAP10-10	353333	broad.mit.edu	37	chr21	46057415	46057415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgcccagagagctgctgCgagccctgctgctgtgcccc	5	7	13	16	1	0	1	0	0	0	1	0	4	0	1	4	0	8	4	4	0	0	0			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr21:46057415C>T	ENST00000380095.1	+	1	143	c.81C>T	c.(79-81)tgC>tgT	p.C27C	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	27	15 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						AGAGCTGCTGCGAGCCCTGCT	0.682													T	46057415	C	T	46057415	2	4	365	1	0	0	0	0	0	0	0	1	8564	776	27	1		1	KRTAP10-10	21	46057415	Silent	SNP	C	TCGA-DU-6393-01A-11D-1705-08		46057415	2072480	38	39201											
CABIN1	23523	broad.mit.edu	37	chr22	24567940	24567940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacaggcctgaagctacccCcagcatggcctctctgggcc	8	6	10	17	0	1	1	0	1	1	0	2	1	1	1	5	3	3	2	5	3	2	1			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chr22:24567940C>T	ENST00000398319.2	+	34	6402	c.6017C>T	c.(6016-6018)cCc>cTc	p.P2006L	CABIN1_ENST00000485008.1_3'UTR|CABIN1_ENST00000337989.7_Missense_Mutation_p.P431L|CABIN1_ENST00000405822.2_Missense_Mutation_p.P1927L|CABIN1_ENST00000263119.5_Missense_Mutation_p.P2006L	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	2006					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAGCTACCCCCAGCATGGCC	0.647													T	24567940	C	T	24567940	3	4	365	1	0	0	0	0	1	0	0	0	2554	623	22	2	6147	2	CABIN1	22	24567940	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		24567940	26736626	39	39202											
PCDH11Y	83259	broad.mit.edu	37	chrY	5605958	5605958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accgtccagaggtgattcccCcattatggaaacacatccct	11	9	7	14	1	0	2	0	1	0	1	3	3	3	3	5	2	1	0	5	2	2	2			TCGA-DU-6393-01A-11D-1705-08	TCGA-DU-6393-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	507dfb6e-244c-408c-a9e4-bce950ceadca	9dd8e0bf-af83-43fa-baf9-c445c02c1014	g.chrY:5605958C>T	ENST00000215473.6	+	6	3998	c.3998C>T	c.(3997-3999)cCc>cTc	p.P1333L				Q9BZA8	PC11Y_HUMAN	protocadherin 11 Y-linked	1333					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			autonomic_ganglia(1)|kidney(2)|large_intestine(7)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						GGTGATTCCCCCATTATGGAA	0.373													T	5605958	C	T	5605958	3	4	365	1	0	0	0	0	1	0	0	0	11585	623	22	2	4074	2	PCDH11Y	24	5605958	Missense_Mutation	SNP	C	TCGA-DU-6393-01A-11D-1705-08		5605958	53767608	40	39203											
FUBP1	8880	broad.mit.edu	37	chr1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-																															cagtttaaaaggaatacttaCagtcattttgaggagcaact																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr1:78433848_78433851delCAGT	ENST00000370767.1	-	3	335_338	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs|FUBP1_ENST00000370768.2_Splice_Site_p.DC83fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								-	78433851	CAGT	-	78433848	8	5	366	1	0	1	0	1	0	0	1	0	6144	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-DU-6394-01A-11D-1705-08		78433848	170816773	1	39204											
ITLN1	55600	broad.mit.edu	37	chr1	160850421	160850421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgttttctgggcgtcGccaaaatcatagaccacagg	10	10	11	10	2	2	1	1	0	1	1	3	2	2	1	2	2	1	2	2	2	3	3			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr1:160850421G>A	ENST00000326245.3	-	6	757	c.642C>T	c.(640-642)ggC>ggT	p.G214G	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	214	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TCTGGGCGTCGCCAAAATCAT	0.443													A	160850421	G	A	160850421	2	1	366	1	0	0	0	0	0	0	0	1	7968	1074	38	1		1	ITLN1	1	160850421	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	82416573	160850421	88400200	2	39205											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	366	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		209113112	34086261	3	39206											
HGD	3081	broad.mit.edu	37	chr3	120357338	120357338	+	Frame_Shift_Del	DEL	C	C	-																															cctgaaggtcttatcagcaaCcccccatcgaggtgggaaga																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr3:120357338delC	ENST00000283871.5	-	12	1429	c.970delG	c.(970-972)gttfs	p.V324fs		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	324					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TTATCAGCAACCCCCCATCGA	0.483													-	120357338	C	-	120357338	7	5	366	1	0	1	0	1	0	0	0	0	7139	507	18	0	379	0	HGD	3	120357338	Frame_Shift_Del	DEL	C	TCGA-DU-6394-01A-11D-1705-08		120357338	77665092	4	39207											
SMC4	10051	broad.mit.edu	37	chr3	160137299	160137299	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataattcaagaaaaaaaaTctggcaggattccaggaata	20	8	7	6	0	2	1	1	0	1	1	3	3	3	3	1	3	0	1	1	3	9	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr3:160137299T>A	ENST00000357388.3	+	12	2276	c.1825T>A	c.(1825-1827)Tct>Act	p.S609T	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.S609T|SMC4_ENST00000469762.1_Missense_Mutation_p.S584T|SMC4_ENST00000462787.1_Missense_Mutation_p.S609T|SMC4_ENST00000344722.5_Missense_Mutation_p.S609T	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	609	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			AGAAAAAAAATCTGGCAGGAT	0.343													A	160137299	T	A	160137299	3	1	366	1	0	0	0	0	1	0	0	0	14879	1435	50	5	1867	5	SMC4	3	160137299	Missense_Mutation	SNP	T	TCGA-DU-6394-01A-11D-1705-08	39779961	160137299	37885131	5	39208											
TXK	7294	broad.mit.edu	37	chr4	48114404	48114404	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgctctccttaaggctaaAttacagggttctctgggcag	8	13	10	10	0	3	0	0	0	3	0	5	0	3	0	1	3	2	4	1	3	4	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:48114404A>G	ENST00000264316.4	-	4	385	c.300T>C	c.(298-300)aaT>aaC	p.N100N	TXK_ENST00000510457.1_5'UTR	NM_003328.2	NP_003319.2	P42681	TXK_HUMAN	TXK tyrosine kinase	100	SH3.					cytoplasm	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|prostate(2)	25						TTAAGGCTAAATTACAGGGTT	0.468													G	48114404	A	G	48114404	2	3	366	1	0	0	0	0	0	0	0	1	16888	98	4	3		3	TXK	4	48114404	Silent	SNP	A	TCGA-DU-6394-01A-11D-1705-08		48114404	143039872	6	39209											
WDFY3	23001	broad.mit.edu	37	chr4	85731329	85731331	+	In_Frame_Del	DEL	GAA	GAA	-																															caacgtgcagaacacagtgtGaagaagttcaaacacttgat																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:85731329_85731331delGAA	ENST00000322366.6	-	14	2461_2463	c.2054_2056delTTC	c.(2053-2058)cttcac>cac	p.L685del	WDFY3-AS1_ENST00000510449.1_RNA|WDFY3_ENST00000295888.4_In_Frame_Del_p.L685del			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	685						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AACACAGTGTGAAGAAGTTCAAA	0.448													-	85731331	GAA	-	85731329	7	5	366	1	0	1	0	1	0	0	0	0	17372	1290	45	0	8787	0	WDFY3	4	85731329	In_Frame_Del	DEL	GAA	TCGA-DU-6394-01A-11D-1705-08	37616925	85731329	105422947	7	39210											
NPY1R	4886	broad.mit.edu	37	chr4	164247119	164247119	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaattgatcaaagcacacGtatttgtctttgtacgcatc	12	13	8	8	2	2	1	1	1	1	0	3	2	2	2	0	1	2	4	0	1	4	5			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:164247119G>A	ENST00000296533.2	-	2	1119	c.588C>T	c.(586-588)taC>taT	p.Y196Y	NPY1R_ENST00000509586.1_Intron	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	196					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CAAAGCACACGTATTTGTCTT	0.408													A	164247119	G	A	164247119	2	1	366	1	0	0	0	0	0	0	0	1	10684	1140	40	1		1	NPY1R	4	164247119	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	78515790	164247119	26907157	8	39211											
FAM149A	25854	broad.mit.edu	37	chr4	187084676	187084678	+	In_Frame_Del	DEL	CTT	CTT	-																															agacactcatggattatcacCttctgcaaagaaaacaccag																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr4:187084676_187084678delCTT	ENST00000356371.5	+	10	1805_1807	c.1805_1807delCTT	c.(1804-1809)ccttct>cct	p.S603del	FAM149A_ENST00000503432.1_In_Frame_Del_p.S312del|FAM149A_ENST00000502970.1_In_Frame_Del_p.S312del|FAM149A_ENST00000389354.5_In_Frame_Del_p.S312del|FAM149A_ENST00000227065.4_In_Frame_Del_p.S312del|FAM149A_ENST00000514153.1_In_Frame_Del_p.S312del			A5PLN7	F149A_HUMAN	family with sequence similarity 149, member A	603										breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(2)	25		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.19e-10)|BRCA - Breast invasive adenocarcinoma(30;1.22e-05)|GBM - Glioblastoma multiforme(59;0.000122)|STAD - Stomach adenocarcinoma(60;0.000288)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.166)		GGATTATCACCTTCTGCAAAGAA	0.532													-	187084678	CTT	-	187084676	7	5	366	1	0	1	0	1	0	0	0	0	5500	681	24	0	958	0	FAM149A	4	187084676	In_Frame_Del	DEL	CTT	TCGA-DU-6394-01A-11D-1705-08	22837557	187084676	4069600	9	39212											
PLEKHG4B	153478	broad.mit.edu	37	chr5	143249	143249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttccgatgtgcctgcccGgcagccacaccccgagcaag	7	5	11	18	3	0	0	0	0	0	0	1	2	1	0	7	1	4	2	7	1	1	1	rs115149634	byFrequency	TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:143249G>A	ENST00000283426.6	+	2	547	c.497G>A	c.(496-498)cGg>cAg	p.R166Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	166					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GTGCCTGCCCGGCAGCCACAC	0.647													A	143249	G	A	143249	3	1	366	1	0	0	0	0	1	0	0	0	12149	1116	39	1	503	1	PLEKHG4B	5	143249	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		143249	180772011	10	39213											
ZDHHC11	79844	broad.mit.edu	37	chr5	814876	814876	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgttaaacttacgaacttacCcaagtgtagatatactcggg	13	11	8	9	3	0	1	0	0	0	1	1	2	0	1	1	1	5	2	1	1	9	6	rs138424733		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:814876C>G	ENST00000283441.8	-	11	1564	c.1181G>C	c.(1180-1182)gGg>gCg	p.G394A	ZDHHC11_ENST00000503758.2_5'UTR|ZDHHC11_ENST00000424784.2_Splice_Site_p.G394A	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	394						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			ACGAACTTACCCAAGTGTAGA	0.378													G	814876	C	G	814876	5	3	366	1	0	0	0	0	0	0	1	0	17702	637	22	4	65	4	ZDHHC11	5	814876	Splice_Site	SNP	C	TCGA-DU-6394-01A-11D-1705-08	671627	814876	180100384	11	39214											
PIK3R1	5295	broad.mit.edu	37	chr5	67591105	67591107	+	In_Frame_Del	DEL	TAA	TAA	-																															gacaaacgtatgaacagcatTaaaccagaccttatccagct																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:67591105_67591107delTAA	ENST00000521381.1	+	13	2314_2316	c.1698_1700delTAA	c.(1696-1701)attaaa>ata	p.K567del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.K567del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K204del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K267del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K297del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K567del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K567del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	567					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.K267_L270delKPDL(1)|p.0?(1)|p.?(1)|p.K297E(1)|p.K567_L570delKPDL(1)|p.K567E(1)|p.K267E(1)|p.K297_L300delKPDL(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TGAACAGCATTAAACCAGACCTT	0.369			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591107	TAA	-	67591105	7	5	366	1	0	1	0	1	0	0	0	0	11995	1742	61	0	1874	0	PIK3R1	5	67591105	In_Frame_Del	DEL	TAA	TCGA-DU-6394-01A-11D-1705-08	66776229	67591105	113324155	12	39215											
MAN2A1	4124	broad.mit.edu	37	chr5	109049430	109049433	+	Frame_Shift_Del	DEL	CTGT	CTGT	-																															ctctcagttgacactgcagaCtgtctgtttgcttcacaaag																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr5:109049430_109049433delCTGT	ENST00000261483.4	+	2	1397_1400	c.345_348delCTGT	c.(343-348)gactgtfs	p.DC115fs		NM_002372.2	NP_002363.2	Q16706	MA2A1_HUMAN	mannosidase, alpha, class 2A, member 1	115					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	55		all_cancers(142;8.66e-07)|all_epithelial(76;7.73e-09)|Prostate(80;0.000303)|Lung NSC(167;0.0186)|all_lung(232;0.0241)|Ovarian(225;0.0444)|Colorectal(57;0.0959)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;2.17e-10)|Epithelial(69;1.37e-09)|COAD - Colon adenocarcinoma(37;0.141)		ACACTGCAGACTGTCTGTTTGCTT	0.407													-	109049433	CTGT	-	109049430	7	5	366	1	0	1	0	1	0	0	0	0	9289	564	20	0	351	0	MAN2A1	5	109049430	Frame_Shift_Del	DEL	CTGT	TCGA-DU-6394-01A-11D-1705-08	41458325	109049430	71865830	13	39216											
DNAH8	1769	broad.mit.edu	37	chr6	38690599	38690599	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggggatggagaaggatgCtgaagatggcgccccttctg	9	7	17	8	2	1	3	0	1	1	2	1	6	1	5	2	5	1	1	2	5	2	1			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:38690599C>T	ENST00000449981.2	+	2	123	c.14C>T	c.(13-15)gCt>gTt	p.A5V						dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAGAAGGATGCTGAAGATGGC	0.532													T	38690599	C	T	38690599	3	4	366	1	0	0	0	0	1	0	0	0	4646	812	28	2		2	DNAH8	6	38690599	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		38690599	132424468	14	39217											
HDAC2	3066	broad.mit.edu	37	chr6	114277842	114277844	+	In_Frame_Del	DEL	TCT	TCT	-																															gtccatcaaacactggacaaTcttctccaacattaactgtg																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:114277842_114277844delTCT	ENST00000519065.1	-	4	673_675	c.297_299delAGA	c.(295-300)gaagat>gat	p.E99del	HDAC2_ENST00000398283.2_In_Frame_Del_p.E193del|HDAC2_ENST00000519108.1_In_Frame_Del_p.E69del|HDAC2_ENST00000368632.2_In_Frame_Del_p.E69del			Q92769	HDAC2_HUMAN	histone deacetylase 2	99	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding			biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	CACTGGACAATCTTCTCCAACAT	0.35													-	114277844	TCT	-	114277842	7	5	366	1	0	1	0	1	0	0	0	0	7062	1435	50	0	1211	0	HDAC2	6	114277842	In_Frame_Del	DEL	TCT	TCGA-DU-6394-01A-11D-1705-08	75587243	114277842	56837225	15	39218											
THEMIS	387357	broad.mit.edu	37	chr6	128135074	128135074	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcggattatatcttttcGaactaaaaagaaaaaataaa	20	11	6	4	2	1	1	0	0	1	1	2	4	1	2	0	1	2	0	0	1	11	6			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr6:128135074G>A	ENST00000368250.1	-	5	973	c.475C>T	c.(475-477)Cga>Tga	p.R159*	THEMIS_ENST00000368248.2_Nonsense_Mutation_p.R238*|THEMIS_ENST00000537166.1_Nonsense_Mutation_p.R203*|THEMIS_ENST00000543064.1_Nonsense_Mutation_p.R238*			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	238	CABIT 1.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						ATATCTTTTCGAACTAAAAAG	0.333													A	128135074	G	A	128135074	4	1	366	1	0	0	0	0	0	1	0	0	15960	1066	37	1	1346	1	THEMIS	6	128135074	Nonsense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08	13857232	128135074	42979993	16	39219											
GTF2IRD1	9569	broad.mit.edu	37	chr7	74016720	74016720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgtacatggtggactatgCcggcctgaacgtgcagctcc	9	9	12	11	2	0	1	0	1	0	0	1	2	1	2	3	3	5	3	3	3	4	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr7:74016720C>T	ENST00000265755.3	+	27	3233	c.2840C>T	c.(2839-2841)gCc>gTc	p.A947V	GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.A964V|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.A932V|GTF2IRD1_ENST00000476977.1_3'UTR	NM_005685.3|NM_016328.2	NP_005676.3|NP_057412.1	Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	947						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						GTGGACTATGCCGGCCTGAAC	0.468													T	74016720	C	T	74016720	3	4	366	1	0	0	0	0	1	0	0	0	6923	739	26	2	2942	2	GTF2IRD1	7	74016720	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		74016720	85121943	17	39220											
ZAN	7455	broad.mit.edu	37	chr7	100369720	100369721	+	RNA	INS	-	-	T																															ccctttcttcctctaaattcINSttttttttttttttgagacg																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													T	100369721	-	T	100369720	6	5	366	0	1	1	1	0	0	0	0	0	17615	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-DU-6394-01A-11D-1705-08	26353000	100369720	58768943	18	39221											
MAPK15	225689	broad.mit.edu	37	chr8	144801230	144801230	+	Frame_Shift_Del	DEL	T	T	-																															ctttggcctggcccgctcccTgggcgacctccccgaggggc																								rs139710965	byFrequency	TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr8:144801230delT	ENST00000338033.4	+	6	604	c.485delT	c.(484-486)ctgfs	p.L162fs	MAPK15_ENST00000395107.4_Frame_Shift_Del_p.L179fs|MAPK15_ENST00000395108.2_Frame_Shift_Del_p.L162fs	NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	162	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GCCCGCTCCCTGGGCGACCTC	0.667													-	144801230	T	-	144801230	7	5	366	1	0	1	0	1	0	0	0	0	9352	1580	55	0	507	0	MAPK15	8	144801230	Frame_Shift_Del	DEL	T	TCGA-DU-6394-01A-11D-1705-08		144801230	1562792	19	39222											
ZNF782	158431	broad.mit.edu	37	chr9	99581580	99581580	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaatttattgaaattgtaaGattttccttttgggtgggta	11	18	9	3	0	0	2	0	1	0	1	1	2	1	2	1	2	0	2	1	2	5	10			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:99581580G>C	ENST00000481138.1	-	6	1386	c.725C>G	c.(724-726)tCt>tGt	p.S242C	ZNF782_ENST00000535338.1_Missense_Mutation_p.S110C	NM_001001662.1	NP_001001662.1	Q6ZMW2	ZN782_HUMAN	zinc finger protein 782	242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(8)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)	33		Acute lymphoblastic leukemia(62;0.0527)				GAAATTGTAAGATTTTCCTTT	0.333													C	99581580	G	C	99581580	3	2	366	1	0	0	0	0	1	0	0	0	18254	942	33	4	1378	4	ZNF782	9	99581580	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		99581580	41631851	20	39223											
OR1J2	26740	broad.mit.edu	37	chr9	125273992	125273992	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaggcccttgggaaactCttcagtagagcaacattttt	13	11	9	8	0	2	2	1	0	1	2	2	3	2	3	1	2	3	2	1	2	4	5			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:125273992C>A	ENST00000335302.5	+	1	912	c.912C>A	c.(910-912)ctC>ctA	p.L304L		NM_054107.1	NP_473448.1	Q8NGS2	OR1J2_HUMAN	olfactory receptor, family 1, subfamily J, member 2	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(7)|stomach(1)	26						TTGGGAAACTCTTCAGTAGAG	0.383													A	125273992	C	A	125273992	2	1	366	1	0	0	0	0	0	0	0	1	11036	900	32	4		4	OR1J2	9	125273992	Silent	SNP	C	TCGA-DU-6394-01A-11D-1705-08	25692412	125273992	15939439	21	39224											
NOTCH1	4851	broad.mit.edu	37	chr9	139391997	139391998	+	Frame_Shift_Del	DEL	AG	AG	-																															cctcccgggcggccagaaacAggggtgtctcctcctggggg																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:139391997_139391998delAG	ENST00000277541.6	-	34	6268_6269	c.6193_6194delCT	c.(6193-6195)ctgfs	p.L2065fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2065					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCAGAAACAGGGGTGTCTCC	0.683			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139391998	AG	-	139391997	7	5	366	1	0	1	0	1	0	0	0	0	10623	188	7	0	1477	0	NOTCH1	9	139391997	Frame_Shift_Del	DEL	AG	TCGA-DU-6394-01A-11D-1705-08	14118005	139391997	1821434	22	39225											
NOTCH1	4851	broad.mit.edu	37	chr9	139395163	139395166	+	Frame_Shift_Del	DEL	GTCT	GTCT	-																															aaggcggtctcgcccgtgcgGtctgtctggttgtgcaggct																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr9:139395163_139395166delGTCT	ENST00000277541.6	-	31	5847_5850	c.5772_5775delAGAC	c.(5770-5775)acagacfs	p.TD1924fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1924					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGCCCGTGCGGTCTGTCTGGTTGT	0.686			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139395166	GTCT	-	139395163	7	5	366	1	0	1	0	1	0	0	0	0	10623	1252	44	0	1908	0	NOTCH1	9	139395163	Frame_Shift_Del	DEL	GTCT	TCGA-DU-6394-01A-11D-1705-08	3166	139395163	1818268	23	39226											
NOS1	4842	broad.mit.edu	37	chr12	117669890	117669890	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttgaaggcctggaagatGgtgcagggcgggaggcggag	9	6	20	6	2	0	2	0	1	0	1	0	5	0	5	1	7	2	1	1	7	3	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr12:117669890G>A	ENST00000317775.6	-	22	3967	c.3282C>T	c.(3280-3282)acC>acT	p.T1094T	NOS1_ENST00000338101.4_Silent_p.T1128T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	1094	FAD-binding FR-type.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCTGGAAGATGGTGCAGGGCG	0.592													A	117669890	G	A	117669890	2	1	366	1	0	0	0	0	0	0	0	1	10617	1335	47	2		2	NOS1	12	117669890	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08		117669890	16182005	24	39227											
NPAS3	64067	broad.mit.edu	37	chr14	34263252	34263252	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgaattaccttcttaggTatattttctacttcttttct	7	21	6	7	0	4	1	0	1	4	0	4	1	4	1	1	2	2	1	1	2	6	11			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:34263252T>G	ENST00000346562.2	+	9	1279		c.e9+2		NPAS3_ENST00000551492.1_Splice_Site|NPAS3_ENST00000548645.1_Splice_Site|NPAS3_ENST00000357798.5_Splice_Site|NPAS3_ENST00000356141.4_Splice_Site	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		CCTTCTTAGGTATATTTTCTA	0.333													G	34263252	T	G	34263252	5	3	366	1	0	0	0	0	0	0	1	0	10640	1652	57	5	1396	5	NPAS3	14	34263252	Splice_Site	SNP	T	TCGA-DU-6394-01A-11D-1705-08		34263252	73086288	25	39228											
KIF26A	26153	broad.mit.edu	37	chr14	104643666	104643666	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcgggctctggggccttCggtgaagctgtctacggcct	3	10	16	12	4	2	1	0	1	2	0	4	1	2	1	2	5	2	2	2	5	2	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:104643666C>A	ENST00000315264.7	+	11	4502	c.4124C>A	c.(4123-4125)tCg>tAg	p.S1375*	KIF26A_ENST00000423312.2_Nonsense_Mutation_p.S1514*			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1514					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CTGGGGCCTTCGGTGAAGCTG	0.736													A	104643666	C	A	104643666	4	1	366	1	0	0	0	0	0	1	0	0	8352	893	31	4	4587	4	KIF26A	14	104643666	Nonsense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	70380414	104643666	2705874	26	39229											
JAG2	3714	broad.mit.edu	37	chr14	105615619	105615619	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttatagcagcgagcgccGttccggcaggggcttggctc	6	8	16	11	4	0	0	0	0	0	0	2	1	1	0	2	5	3	6	2	5	2	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr14:105615619G>A	ENST00000331782.3	-	13	2044	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N	JAG2_ENST00000347004.2_Silent_p.N509N	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	547	EGF-like 9.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGCGAGCGCCGTTCCGGCAGG	0.662													A	105615619	G	A	105615619	2	1	366	1	0	0	0	0	0	0	0	1	7993	1136	40	1		1	JAG2	14	105615619	Silent	SNP	G	TCGA-DU-6394-01A-11D-1705-08	971953	105615619	1733921	27	39230											
PHLPP2	23035	broad.mit.edu	37	chr16	71692597	71692599	+	In_Frame_Del	DEL	TGT	TGT	-																															tatttctgggaaaatgctgaTgttgttggagtgtgcaacaa																								rs145938775		TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr16:71692597_71692599delTGT	ENST00000393524.2	-	12	2637_2639	c.1904_1906delACA	c.(1903-1908)aacatc>atc	p.N635del	PHLPP2_ENST00000568954.1_In_Frame_Del_p.N702del|PHLPP2_ENST00000356272.3_In_Frame_Del_p.N702del|PHLPP2_ENST00000567016.1_In_Frame_Del_p.N737del|RP11-432I5.6_ENST00000567077.1_RNA|PHLPP2_ENST00000360429.3_In_Frame_Del_p.N702del|PHLPP2_ENST00000540628.1_5'UTR			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	702						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AAAATGCTGATGTTGTTGGAGTG	0.458													-	71692599	TGT	-	71692597	7	5	366	1	0	1	0	1	0	0	0	0	11932	1464	51	0	1888	0	PHLPP2	16	71692597	In_Frame_Del	DEL	TGT	TCGA-DU-6394-01A-11D-1705-08		71692597	18662156	28	39231											
NF1	4763	broad.mit.edu	37	chr17	29546036	29546037	+	Frame_Shift_Del	DEL	AG	AG	-																															cttgcagaatccaagaaaacAggggcccgaaacccaaggca																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29546036_29546037delAG	ENST00000358273.4	+	14	1924_1925	c.1541_1542delAG	c.(1540-1542)cagfs	p.Q514fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.Q514fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.Q514fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	514					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)|p.Q514fs*43(2)|p.N510_E547del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCAAGAAAACAGGGGCCCGAAA	0.426			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29546037	AG	-	29546036	7	5	366	1	0	1	0	1	0	0	0	0	10432	188	7	0	1595	0	NF1	17	29546036	Frame_Shift_Del	DEL	AG	TCGA-DU-6394-01A-11D-1705-08		29546036	51649174	29	39232											
NF1	4763	broad.mit.edu	37	chr17	29553697	29553697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtcagcaatatgatgtCaacaggtaaatgtgaatagt	14	12	9	6	0	3	2	2	2	1	0	3	2	3	2	0	1	2	2	0	1	7	3			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29553697C>A	ENST00000358273.4	+	18	2629	c.2246C>A	c.(2245-2247)tCa>tAa	p.S749*	NF1_ENST00000356175.3_Nonsense_Mutation_p.S749*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	749					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.S749*(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AATATGATGTCAACAGGTAAA	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29553697	C	A	29553697	4	1	366	1	0	0	0	0	0	1	0	0	10432	838	29	4	2377	4	NF1	17	29553697	Nonsense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	7661	29553697	51641513	30	39233											
NF1	4763	broad.mit.edu	37	chr17	29652976	29652979	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aatcgctttaaaacagacttTctctctaagtggtttgttgt																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29652976_29652979delTCTC	ENST00000358273.4	+	37	5357_5360	c.4974_4977delTCTC	c.(4972-4977)tttctcfs	p.FL1658fs	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Frame_Shift_Del_p.FL1637fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1660fs*37(2)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAACAGACTTTCTCTCTAAGTGGT	0.422			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29652979	TCTC	-	29652976	7	5	366	1	0	1	0	1	0	0	0	0	10432	1780	62	0	5181	0	NF1	17	29652976	Frame_Shift_Del	DEL	TCTC	TCGA-DU-6394-01A-11D-1705-08	99279	29652976	51542234	31	39234											
NF1	4763	broad.mit.edu	37	chr17	29670155	29670155	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggacaccttttaaaaggTaaaaaagccttatttagaat	16	13	7	5	0	0	1	0	0	0	1	0	2	0	2	2	2	1	2	2	2	8	7			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:29670155T>A	ENST00000358273.4	+	48	7572		c.e48+2		NF1_ENST00000444181.2_Splice_Site|NF1_ENST00000417592.2_Splice_Site|NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAAAAGGTAAAAAAGCCT	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29670155	T	A	29670155	5	1	366	1	0	0	0	0	0	0	1	0	10432	1652	57	5	7442	5	NF1	17	29670155	Splice_Site	SNP	T	TCGA-DU-6394-01A-11D-1705-08	17179	29670155	51525055	32	39235											
NT5C	30833	broad.mit.edu	37	chr17	73126675	73126675	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctccttgtcgggggcaggaCcaggtgccgattgtggcagc	5	9	16	11	2	1	0	0	0	1	0	3	2	1	1	3	5	2	2	3	5	0	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:73126675C>A	ENST00000245552.2	-	5	601	c.514G>T	c.(514-516)Gtc>Ttc	p.V172F	NT5C_ENST00000582160.1_Missense_Mutation_p.V86F|NT5C_ENST00000582170.1_Missense_Mutation_p.G170V|NT5C_ENST00000578337.1_3'UTR	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	172					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			GGGGGCAGGACCAGGTGCCGA	0.607											OREG0024728	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	73126675	C	A	73126675	3	1	366	1	0	0	0	0	1	0	0	0	10760	507	18	4	95	4	NT5C	17	73126675	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	43456520	73126675	8068535	33	39236											
NPTX1	4884	broad.mit.edu	37	chr17	78444660	78444660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacttggtggcccctcCgtagatctcgatgtgggatt	5	12	13	11	2	1	1	0	0	1	1	4	3	3	2	4	4	0	1	4	4	1	3			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr17:78444660C>T	ENST00000306773.4	-	5	1409	c.1252G>A	c.(1252-1254)Gga>Aga	p.G418R		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	418	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			GTGGCCCCTCCGTAGATCTCG	0.662													T	78444660	C	T	78444660	3	4	366	1	0	0	0	0	1	0	0	0	10678	661	23	1	50	1	NPTX1	17	78444660	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	5317985	78444660	2750550	34	39237											
PLIN4	729359	broad.mit.edu	37	chr19	4510914	4510916	+	In_Frame_Del	DEL	TGG	TGG	-																															ggttccggtcagcactgtctTggtggtgtccaggcccccct																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:4510914_4510916delTGG	ENST00000301286.3	-	3	3013_3015	c.3014_3016delCCA	c.(3013-3018)accaag>aag	p.T1005del		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1005						lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						AGCACTGTCTTGGTGGTGTCCAG	0.626													-	4510916	TGG	-	4510914	7	5	366	1	0	1	0	1	0	0	0	0	12169	1821	63	0	1073	0	PLIN4	19	4510914	In_Frame_Del	DEL	TGG	TCGA-DU-6394-01A-11D-1705-08		4510914	54618069	35	39238											
PGLYRP2	114770	broad.mit.edu	37	chr19	15582755	15582755	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtagcgctgcatggagCgcatgttggctgcgcagcgc	5	8	18	10	4	0	0	0	0	0	0	0	1	0	1	0	4	5	7	0	4	1	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:15582755C>A	ENST00000292609.4	-	3	1418	c.1289G>T	c.(1288-1290)cGc>cTc	p.R430L	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.R430L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	430					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CTGCATGGAGCGCATGTTGGC	0.672													A	15582755	C	A	15582755	3	1	366	1	0	0	0	0	1	0	0	0	11871	768	27	4	453	4	PGLYRP2	19	15582755	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	11071841	15582755	43546228	36	39239											
FKBP8	23770	broad.mit.edu	37	chr19	18650228	18650228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagcagtgaccatggcCgtctcccccacgtccatgag	8	7	11	15	2	2	2	1	2	1	0	4	3	3	2	5	1	1	1	5	1	0	0			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:18650228C>T	ENST00000608443.1	-	4	703	c.504G>A	c.(502-504)acG>acA	p.T168T	FKBP8_ENST00000453489.2_Silent_p.T197T|FKBP8_ENST00000610101.1_Intron|FKBP8_ENST00000222308.4_Silent_p.T168T|FKBP8_ENST00000596558.2_Silent_p.T168T|FKBP8_ENST00000597960.3_Silent_p.T168T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa		PPIase FKBP-type.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						TGACCATGGCCGTCTCCCCCA	0.637													T	18650228	C	T	18650228	2	4	366	1	0	0	0	0	0	0	0	1	5963	639	23	1		1	FKBP8	19	18650228	Silent	SNP	C	TCGA-DU-6394-01A-11D-1705-08	3067473	18650228	40478755	37	39240											
IRF2BP1	26145	broad.mit.edu	37	chr19	46387378	46387378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggagccgaccagcgggCacttgtctccgctcgggcag	6	5	16	14	5	1	0	0	0	1	0	3	3	1	2	3	4	2	3	3	4	0	1			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr19:46387378C>A	ENST00000302165.3	-	1	1998	c.1655G>T	c.(1654-1656)tGc>tTc	p.C552F		NM_015649.1	NP_056464.1	Q8IU81	I2BP1_HUMAN	interferon regulatory factor 2 binding protein 1	552					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				cervix(1)|kidney(1)|lung(2)	4		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00442)|GBM - Glioblastoma multiforme(486;0.0402)|Epithelial(262;0.231)		GACCAGCGGGCACTTGTCTCC	0.642													A	46387378	C	A	46387378	3	1	366	1	0	0	0	0	1	0	0	0	7887	710	25	4	103	4	IRF2BP1	19	46387378	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08	27737150	46387378	12741605	38	39241											
PHACTR3	116154	broad.mit.edu	37	chr20	58381107	58381107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttaggaacactgccaCggaaatgcaagaaggagctc	13	7	12	9	1	0	1	0	0	0	1	1	4	0	4	1	4	4	3	1	4	5	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr20:58381107C>T	ENST00000371015.1	+	8	1653	c.1186C>T	c.(1186-1188)Cgg>Tgg	p.R396W	PHACTR3_ENST00000359926.3_Missense_Mutation_p.R393W|PHACTR3_ENST00000395636.2_Missense_Mutation_p.R355W|PHACTR3_ENST00000541461.1_Missense_Mutation_p.R355W|PHACTR3_ENST00000361300.4_Missense_Mutation_p.R285W|PHACTR3_ENST00000355648.4_Missense_Mutation_p.R355W|PHACTR3_ENST00000395639.4_Missense_Mutation_p.R285W	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	396						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AACACTGCCACGGAAATGCAA	0.547													T	58381107	C	T	58381107	3	4	366	1	0	0	0	0	1	0	0	0	11888	527	19	1	1216	1	PHACTR3	20	58381107	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		58381107	4644413	39	39242											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768834	31768834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccttccctgggctatggcGttggattctgccgcccaacc	4	11	10	16	2	1	0	0	0	1	0	3	1	3	1	5	3	2	2	5	3	2	4			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr21:31768834G>A	ENST00000355459.2	+	1	443	c.430G>A	c.(430-432)Gtt>Att	p.V144I		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	144						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GGGCTATGGCGTTGGATTCTG	0.542													A	31768834	G	A	31768834	3	1	366	1	0	0	0	0	1	0	0	0	8580	1145	40	1	432	1	KRTAP13-1	21	31768834	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08		31768834	16361061	40	39243											
PWP2	5822	broad.mit.edu	37	chr21	45540355	45540355	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatccatggacgggaccGtgcgagcctttgaccttcac	7	9	10	15	3	2	1	2	1	0	0	3	4	3	3	5	2	2	0	5	2	0	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chr21:45540355G>A	ENST00000291576.7	+	11	1442	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M		NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	439						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		GGACGGGACCGTGCGAGCCTT	0.597													A	45540355	G	A	45540355	3	1	366	1	0	0	0	0	1	0	0	0	12932	1145	40	1	1357	1	PWP2	21	45540355	Missense_Mutation	SNP	G	TCGA-DU-6394-01A-11D-1705-08	13771521	45540355	2589540	41	39244											
FRMPD4	9758	broad.mit.edu	37	chrX	12701668	12701668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtccaatcctgtcaaagtaCgcttctctgaggaggtcatc	10	11	9	11	1	3	1	2	1	1	0	7	2	5	2	2	2	1	2	2	2	3	2			TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chrX:12701668C>T	ENST00000380682.1	+	6	1041	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	179					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGTCAAAGTACGCTTCTCTGA	0.423													T	12701668	C	T	12701668	3	4	366	1	0	0	0	0	1	0	0	0	6111	536	19	1	557	1	FRMPD4	23	12701668	Missense_Mutation	SNP	C	TCGA-DU-6394-01A-11D-1705-08		12701668	142568892	42	39245											
BCORL1	63035	broad.mit.edu	37	chrX	129147257	129147259	+	In_Frame_Del	DEL	AGA	AGA	-																															ctctcggcaaggtgttggagAgaagaatactttcattttgg																										TCGA-DU-6394-01A-11D-1705-08	TCGA-DU-6394-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	611b0bd5-fb3a-4c10-999c-e4b3f6980d0b	d7371b5d-ee62-450e-bc22-082b1de3911b	g.chrX:129147257_129147259delAGA	ENST00000540052.1	+	3	553_555	c.509_511delAGA	c.(508-513)gagaag>gag	p.K171del	BCORL1_ENST00000303743.5_In_Frame_Del_p.K171del|BCORL1_ENST00000218147.7_In_Frame_Del_p.K171del|BCORL1_ENST00000359304.2_In_Frame_Del_p.K171del	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	171					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GGTGTTGGAGAGAAGAATACTTT	0.552													-	129147259	AGA	-	129147257	7	5	366	1	0	1	0	1	0	0	0	0	1392	304	11	0	519	0	BCORL1	23	129147257	In_Frame_Del	DEL	AGA	TCGA-DU-6394-01A-11D-1705-08	116445589	129147257	26123303	43	39246											
PRDM2	7799	broad.mit.edu	37	chr1	14143064	14143064	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggctgctccctgacAggtacgaggcaggatggaac	9	7	13	12	1	1	1	0	1	1	0	2	4	2	3	1	5	3	4	1	5	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:14143064A>G	ENST00000376048.5	+	7	780	c.654A>G	c.(652-654)acA>acG	p.T218T	PRDM2_ENST00000235372.7_3'UTR|PRDM2_ENST00000503842.1_Splice_Site_p.T54T|PRDM2_ENST00000505823.1_Splice_Site_p.T54T	NM_001135610.1	NP_001129082.1	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	0						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GCTCCCTGACAGGTACGAGGC	0.577													G	14143064	A	G	14143064	5	3	367	1	0	0	0	0	0	0	1	0	12544	202	7	3	5226	3	PRDM2	1	14143064	Splice_Site	SNP	A	TCGA-DU-6395-01A-12D-1705-08		14143064	235107557	1	39247											
PDIK1L	149420	broad.mit.edu	37	chr1	26448766	26448766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcaaaagctgacatctttGctctggggattatcatctgg	10	12	10	9	0	4	1	1	1	3	0	4	2	4	2	0	3	3	3	0	3	3	2			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:26448766G>A	ENST00000374271.4	+	4	1011	c.724G>A	c.(724-726)Gct>Act	p.A242T	PDIK1L_ENST00000374269.1_Missense_Mutation_p.A242T	NM_001243532.1|NM_001243533.1|NM_152835.4	NP_001230461.1|NP_001230462.1|NP_690048.1	Q8N165	PDK1L_HUMAN	PDLIM1 interacting kinase 1 like	242	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity			large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00239)|all_lung(284;0.00366)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.32e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000735)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.015)|READ - Rectum adenocarcinoma(331;0.0649)		TGACATCTTTGCTCTGGGGAT	0.423													A	26448766	G	A	26448766	3	1	367	1	0	0	0	0	1	0	0	0	11749	1319	46	2	730	2	PDIK1L	1	26448766	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08	12305702	26448766	222801855	2	39248											
CCDC28B	79140	broad.mit.edu	37	chr1	32670247	32670248	+	Frame_Shift_Del	DEL	TG	TG	-																															ctttccaaggaacccgtctaTgtgtgtgtgttcctgagagg																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:32670247_32670248delTG	ENST00000421922.2	+	5	674_675	c.574_575delTG	c.(574-576)tgtfs	p.C192fs	CCDC28B_ENST00000373602.5_Intron|CCDC28B_ENST00000483009.1_Intron			Q9BUN5	CC28B_HUMAN	coiled-coil domain containing 28B	0										large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(2)	10		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				AACCCGTCTATGTGTGTGTGTT	0.5													-	32670248	TG	-	32670247	7	5	367	1	0	1	0	1	0	0	0	0	2830	1479	51	0		0	CCDC28B	1	32670247	Frame_Shift_Del	DEL	TG	TCGA-DU-6395-01A-12D-1705-08	6221481	32670247	216580374	3	39249											
PTBP2	58155	broad.mit.edu	37	chr1	97278639	97278639	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgctaacactgggggcacTgtgaaagcatttaagttttt	10	14	10	7	1	0	1	0	1	0	0	1	1	0	1	0	2	2	4	0	2	3	6			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr1:97278639T>A	ENST00000609116.1	+	13	1525	c.1443T>A	c.(1441-1443)acT>acA	p.T481T	PTBP2_ENST00000394184.3_Silent_p.T497T|PTBP2_ENST00000426398.2_Silent_p.T481T|PTBP2_ENST00000370198.1_Silent_p.T486T|PTBP2_ENST00000541987.1_3'UTR|PTBP2_ENST00000482253.1_3'UTR|PTBP2_ENST00000370197.1_Silent_p.T486T			Q9UKA9	PTBP2_HUMAN	polypyrimidine tract binding protein 2		RRM 4.						nucleotide binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|skin(1)	26		all_epithelial(167;2.95e-05)|all_lung(203;0.000396)|Lung NSC(277;0.00171)		all cancers(265;0.0582)|Epithelial(280;0.0716)|Colorectal(170;0.0879)|KIRC - Kidney renal clear cell carcinoma(1967;0.202)		CTGGGGGCACTGTGAAAGCAT	0.328													A	97278639	T	A	97278639	2	1	367	1	0	0	0	0	0	0	0	1	12811	1567	55	5		5	PTBP2	1	97278639	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	64608392	97278639	151971982	4	39250											
COQ10B	80219	broad.mit.edu	37	chr2	198338608	198338608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatggtccagaaacaaataTacctcgggagttaatgcttc	13	11	9	8	1	0	1	0	0	0	1	3	2	1	2	2	2	3	3	2	2	6	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr2:198338608T>C	ENST00000263960.2	+	5	815	c.677T>C	c.(676-678)aTa>aCa	p.I226T	COQ10B_ENST00000409398.1_Missense_Mutation_p.I176T|COQ10B_ENST00000409010.1_Missense_Mutation_p.I198T|COQ10B_ENST00000545340.1_Missense_Mutation_p.I183T	NM_025147.3	NP_079423.1	Q9H8M1	CQ10B_HUMAN	coenzyme Q10 homolog B (S. cerevisiae)	226						mitochondrial inner membrane				endometrium(1)|large_intestine(2)|lung(3)	6			Epithelial(96;0.231)|OV - Ovarian serous cystadenocarcinoma(117;0.246)			GAAACAAATATACCTCGGGAG	0.413													C	198338608	T	C	198338608	3	2	367	1	0	0	0	0	1	0	0	0	3775	1406	49	3	695	3	COQ10B	2	198338608	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08		198338608	44860765	5	39251											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	367	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08	10774504	209113112	34086261	6	39252											
TBC1D9	23158	broad.mit.edu	37	chr4	141543729	141543729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaggccccgttgtcccGgggcgaggagtcctccagct	5	6	16	14	3	0	0	0	0	0	0	3	3	3	2	5	5	2	3	5	5	0	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr4:141543729G>A	ENST00000442267.2	-	21	3495	c.3421C>T	c.(3421-3423)Cgg>Tgg	p.R1141W		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1141						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCGTTGTCCCGGGGCGAGGAG	0.637													A	141543729	G	A	141543729	3	1	367	1	0	0	0	0	1	0	0	0	15727	1115	39	1	383	1	TBC1D9	4	141543729	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		141543729	49610547	7	39253											
DNAH8	1769	broad.mit.edu	37	chr6	38893890	38893890	+	Silent	SNP	T	T	A																															ctctcaattcagaatggcatTattgtgacaaaggccaccag																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893890T>A	ENST00000359357.3	+	72	10625	c.10371T>A	c.(10369-10371)atT>atA	p.I3457I	DNAH8_ENST00000449981.2_Silent_p.I3674I|DNAH8_ENST00000441566.1_Silent_p.I3421I|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AGAATGGCATTATTGTGACAA	0.408													A	38893890	T	A	38893890	2	1	367	1	0	0	0	0	0	0	0	1	4646	1742	61	5		5	DNAH8	6	38893890	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08		38893890	132221177	8	39254	125	2									
DNAH8	1769	broad.mit.edu	37	chr6	38893891	38893891	+	Missense_Mutation	SNP	A	A	T																															tctcaattcagaatggcattAttgtgacaaaggccaccaga																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:38893891A>T	ENST00000359357.3	+	72	10626	c.10372A>T	c.(10372-10374)Att>Ttt	p.I3458F	DNAH8_ENST00000449981.2_Missense_Mutation_p.I3675F|DNAH8_ENST00000441566.1_Missense_Mutation_p.I3422F|RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAATGGCATTATTGTGACAAA	0.413													T	38893891	A	T	38893891	3	4	367	1	0	0	0	0	1	0	0	0	4646	449	16	5	10650	5	DNAH8	6	38893891	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	1	38893891	132221176	9	39255	125	2									
SHPRH	257218	broad.mit.edu	37	chr6	146215310	146215310	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgtcttaacacgactgatTtgtgcaaattccatgttgtt	11	16	7	7	1	1	1	0	1	1	0	2	2	2	1	1	0	2	3	1	0	3	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr6:146215310T>C	ENST00000367503.3	-	27	5081	c.4683A>G	c.(4681-4683)caA>caG	p.Q1561Q	SHPRH_ENST00000438092.2_Silent_p.Q1561Q|SHPRH_ENST00000275233.7_Silent_p.Q1557Q|SHPRH_ENST00000367505.2_Silent_p.Q1557Q	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	1557	Helicase C-terminal.				DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		CACGACTGATTTGTGCAAATT	0.313													C	146215310	T	C	146215310	2	2	367	1	0	0	0	0	0	0	0	1	14385	1838	64	3		3	SHPRH	6	146215310	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	107321419	146215310	24899757	10	39256											
KIAA1324L	222223	broad.mit.edu	37	chr7	86542420	86542420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgatgaacccgactgttcaGaaccgagggcacaggcacgg	12	4	13	12	4	1	2	1	1	0	1	1	5	1	2	2	3	2	3	2	3	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr7:86542420G>C	ENST00000450689.2	-	14	2017	c.1832C>G	c.(1831-1833)tCt>tGt	p.S611C	KIAA1324L_ENST00000444627.1_Intron|KIAA1324L_ENST00000297222.6_Missense_Mutation_p.S371C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.S444C|KIAA1324L_ENST00000490995.1_5'UTR	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	611						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CGACTGTTCAGAACCGAGGGC	0.517													C	86542420	G	C	86542420	3	2	367	1	0	0	0	0	1	0	0	0	8282	942	33	4	1293	4	KIAA1324L	7	86542420	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		86542420	72596243	11	39257											
DLC1	10395	broad.mit.edu	37	chr8	12952306	12952306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttccgagagtttgttcGtcattagtggctcaggaaga	9	13	13	6	2	2	2	2	0	0	2	4	4	3	3	1	3	0	4	1	3	2	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:12952306G>A	ENST00000276297.4	-	12	3897	c.3488C>T	c.(3487-3489)aCg>aTg	p.T1163M	DLC1_ENST00000358919.2_Missense_Mutation_p.T726M|DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Missense_Mutation_p.T652M|DLC1_ENST00000512044.2_Missense_Mutation_p.T760M	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1163	Rho-GAP.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	p.T1163M(1)		NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GAGTTTGTTCGTCATTAGTGG	0.448													A	12952306	G	A	12952306	3	1	367	1	0	0	0	0	1	0	0	0	4589	1145	40	1	1126	1	DLC1	8	12952306	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		12952306	133411716	12	39258											
TEX15	56154	broad.mit.edu	37	chr8	30702110	30702110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcagtcatgcttcttttgTaaacagaatcttttgctttt	8	20	5	8	0	4	1	2	0	2	1	4	1	4	1	0	0	3	3	0	0	3	9			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:30702110T>C	ENST00000256246.2	-	1	4498	c.4424A>G	c.(4423-4425)tAc>tGc	p.Y1475C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1475										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		GCTTCTTTTGTAAACAGAATC	0.338													C	30702110	T	C	30702110	3	2	367	1	0	0	0	0	1	0	0	0	15879	1638	57	3	3961	3	TEX15	8	30702110	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08	17749804	30702110	115661912	13	39259											
UBR5	51366	broad.mit.edu	37	chr8	103359284	103359284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacctaccagaggatccTccaccacttccacccactcc	10	7	5	19	0	0	2	0	1	0	1	4	4	4	3	8	1	1	0	8	1	1	2			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr8:103359284T>C	ENST00000520539.1	-	6	1029	c.423A>G	c.(421-423)ggA>ggG	p.G141G	UBR5_ENST00000220959.4_Silent_p.G141G|UBR5_ENST00000521922.1_Silent_p.G141G	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	141					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)			CAGAGGATCCTCCACCACTTC	0.483													C	103359284	T	C	103359284	2	2	367	1	0	0	0	0	0	0	0	1	17007	1538	54	3		3	UBR5	8	103359284	Silent	SNP	T	TCGA-DU-6395-01A-12D-1705-08	72657174	103359284	43004738	14	39260											
PPP3R2	5535	broad.mit.edu	37	chr9	104357209	104357209	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctcgtttcccattgtggAcatctggcaacggccacggc	6	9	12	14	3	1	0	0	0	1	0	3	1	2	1	3	5	1	2	3	5	1	2			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:104357209A>C	ENST00000374806.1	-	1	74	c.4T>G	c.(4-6)Tcc>Gcc	p.S2A	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	0							calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	CCCATTGTGGACATCTGGCAA	0.607													C	104357209	A	C	104357209	3	2	367	1	0	0	0	0	1	0	0	0	12483	275	10	5	521	5	PPP3R2	9	104357209	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08		104357209	36856222	15	39261											
SCAI	286205	broad.mit.edu	37	chr9	127734030	127734030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgacacttttcccataggCctctgcgcatgcttgacaat	8	13	7	13	1	1	2	0	2	1	0	2	2	2	2	2	1	2	2	2	1	2	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr9:127734030C>T	ENST00000336505.6	-	16	1551	c.1493G>A	c.(1492-1494)gGc>gAc	p.G498D	SCAI_ENST00000373549.4_Missense_Mutation_p.G521D	NM_001144877.2	NP_001138349.1	Q8N9R8	SCAI_HUMAN	suppressor of cancer cell invasion						negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|integral to membrane|nucleus	protein binding|transcription corepressor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(5)|stomach(1)|urinary_tract(1)	35						TTCCCATAGGCCTCTGCGCAT	0.428													T	127734030	C	T	127734030	3	4	367	1	0	0	0	0	1	0	0	0	13961	739	26	2	339	2	SCAI	9	127734030	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08	23376821	127734030	13479401	16	39262											
MYOF	26509	broad.mit.edu	37	chr10	95148810	95148810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagtattcagctcatcatAggggtctgggaatcccgtgt	8	12	11	10	1	4	0	3	0	1	0	6	1	6	1	2	3	1	2	2	3	3	3			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr10:95148810A>G	ENST00000371501.4	-	18	1680	c.1558T>C	c.(1558-1560)Tat>Cat	p.Y520H	MYOF_ENST00000371502.4_Missense_Mutation_p.Y520H|MYOF_ENST00000358334.5_Missense_Mutation_p.Y507H|MYOF_ENST00000359263.4_Missense_Mutation_p.Y520H			Q9NZM1	MYOF_HUMAN	myoferlin	520					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGCTCATCATAGGGGTCTGGG	0.408													G	95148810	A	G	95148810	3	3	367	1	0	0	0	0	1	0	0	0	10165	420	15	3	4775	3	MYOF	10	95148810	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08		95148810	40385937	17	39263											
FAT3	120114	broad.mit.edu	37	chr11	92085432	92085432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccatttataatgctaccGtgtatgagaactcagcagca	13	12	7	9	1	1	1	1	1	0	1	2	2	2	1	2	0	5	4	2	0	5	6			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr11:92085432G>A	ENST00000298047.6	+	1	171	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	FAT3_ENST00000409404.2_Missense_Mutation_p.V52M|FAT3_ENST00000541502.1_Missense_Mutation_p.V52M			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	52	Cadherin 1.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGCTACCGTGTATGAGAA	0.488										TCGA Ovarian(4;0.039)			A	92085432	G	A	92085432	3	1	367	1	0	0	0	0	1	0	0	0	5740	1145	40	1	156	1	FAT3	11	92085432	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		92085432	42921084	18	39264											
COL2A1	1280	broad.mit.edu	37	chr12	48370602	48370602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgacactcacaggagggCcgggcagaccctgcagacca	11	3	13	14	1	1	3	1	1	0	2	1	4	1	4	3	3	1	2	3	3	0	0			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr12:48370602C>T	ENST00000380518.3	-	48	3592	c.3428G>A	c.(3427-3429)gGc>gAc	p.G1143D	COL2A1_ENST00000337299.6_Missense_Mutation_p.G1074D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1143	Triple-helical region.		G -> S (in ACG2).		axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CACAGGAGGGCCGGGCAGACC	0.647													T	48370602	C	T	48370602	3	4	367	1	0	0	0	0	1	0	0	0	3718	739	26	2	1063	2	COL2A1	12	48370602	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		48370602	85481293	19	39265											
ATP8A2	51761	broad.mit.edu	37	chr13	26125550	26125550	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcctggtgttgtttggCatcctcttggtcatggcctt	4	16	11	10	0	2	1	1	0	1	1	4	1	4	1	3	4	0	3	3	4	0	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr13:26125550C>A	ENST00000381655.2	+	11	1108	c.966C>A	c.(964-966)ggC>ggA	p.G322G	ATP8A2_ENST00000255283.8_Silent_p.G282G	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	282					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGTTGTTTGGCATCCTCTTGG	0.483													A	26125550	C	A	26125550	2	1	367	1	0	0	0	0	0	0	0	1	1198	697	25	4		4	ATP8A2	13	26125550	Silent	SNP	C	TCGA-DU-6395-01A-12D-1705-08		26125550	89044328	20	39266											
SYNE2	23224	broad.mit.edu	37	chr14	64457244	64457244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttcaacatgttctcacaaCtgggcttcaggcaaagattc	11	12	7	11	0	3	1	3	0	1	1	5	1	3	1	0	2	2	3	0	2	3	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr14:64457244C>G	ENST00000358025.3	+	20	2659	c.2429C>G	c.(2428-2430)aCt>aGt	p.T810S	SYNE2_ENST00000357395.3_5'UTR|SYNE2_ENST00000344113.4_Missense_Mutation_p.T810S|SYNE2_ENST00000554584.1_Missense_Mutation_p.T810S	NM_182914.2	NP_878918.2	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	810					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GTTCTCACAACTGGGCTTCAG	0.378													G	64457244	C	G	64457244	3	3	367	1	0	0	0	0	1	0	0	0	15543	565	20	4	2503	4	SYNE2	14	64457244	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		64457244	42892296	21	39267											
FMN1	342184	broad.mit.edu	37	chr15	33359620	33359620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgcttccctcctctggctCctggccaccatcatcagagt	5	11	8	17	0	3	1	2	0	1	1	6	1	6	1	5	2	1	3	5	2	0	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:33359620C>T	ENST00000334528.9	-	1	465	c.466G>A	c.(466-468)Gag>Aag	p.E156K	FMN1_ENST00000561249.1_Intron|FMN1_ENST00000559047.1_Intron|FMN1_ENST00000558197.1_Missense_Mutation_p.E156K|FMN1_ENST00000559150.1_Intron	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	0	Microtubule-binding (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTCTGGCTCCTGGCCACCA	0.517													T	33359620	C	T	33359620	3	4	367	1	0	0	0	0	1	0	0	0	5998	864	30	2	3192	2	FMN1	15	33359620	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		33359620	69171772	22	39268											
CHRNA3	1136	broad.mit.edu	37	chr15	78893607	78893607	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttacctctttggcttcAttttgtgctttcatattttc	5	22	4	10	0	3	0	2	0	1	0	5	0	4	0	2	1	2	2	2	1	2	9			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr15:78893607A>G	ENST00000326828.5	-	5	1761	c.1377T>C	c.(1375-1377)aaT>aaC	p.N459N	CHRNA3_ENST00000348639.3_Silent_p.N459N	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	459					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTTTGGCTTCATTTTGTGCTT	0.408													G	78893607	A	G	78893607	2	3	367	1	0	0	0	0	0	0	0	1	3414	214	8	3		3	CHRNA3	15	78893607	Silent	SNP	A	TCGA-DU-6395-01A-12D-1705-08	45533987	78893607	23637785	23	39269											
ZNF23	7571	broad.mit.edu	37	chr16	71483441	71483444	+	Frame_Shift_Del	DEL	AATT	AATT	-																															tttgaaaggtctttcctcagAattaattatttcatgcttca																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr16:71483441_71483444delAATT	ENST00000393539.2	-	6	1297_1300	c.484_487delAATT	c.(484-489)aattctfs	p.NS162fs	AC010547.9_ENST00000561908.1_3'UTR|ZNF23_ENST00000357254.4_Frame_Shift_Del_p.NS162fs|ZNF23_ENST00000539742.1_5'UTR|ZNF23_ENST00000497160.1_3'UTR|ZNF23_ENST00000358700.2_3'UTR|ZNF23_ENST00000428724.2_Frame_Shift_Del_p.NS104fs|ZNF23_ENST00000417828.1_Frame_Shift_Del_p.NS162fs|ZNF23_ENST00000564528.1_Frame_Shift_Del_p.NS104fs	NM_145911.1	NP_666016.1	P17027	ZNF23_HUMAN	zinc finger protein 23	162					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(14)|stomach(1)|urinary_tract(1)	29		Ovarian(137;0.00768)		BRCA - Breast invasive adenocarcinoma(221;0.0686)		CTTTCCTCAGAATTAATTATTTCA	0.402													-	71483444	AATT	-	71483441	7	5	367	1	0	1	0	1	0	0	0	0	17884	246	9	0	1448	0	ZNF23	16	71483441	Frame_Shift_Del	DEL	AATT	TCGA-DU-6395-01A-12D-1705-08		71483441	18871312	24	39270											
NLGN2	57555	broad.mit.edu	37	chr17	7318155	7318155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaccttctgatcctctccCaccattcagaaggtaccagc	10	10	5	16	0	4	2	2	1	2	1	6	2	5	2	5	1	3	1	5	1	3	3			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7318155C>T	ENST00000302926.2	+	4	905	c.832C>T	c.(832-834)Cac>Tac	p.H278Y	NLGN2_ENST00000575301.1_Missense_Mutation_p.H278Y	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	278					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				GATCCTCTCCCACCATTCAGA	0.612													T	7318155	C	T	7318155	3	4	367	1	0	0	0	0	1	0	0	0	10538	594	21	2	846	2	NLGN2	17	7318155	Missense_Mutation	SNP	C	TCGA-DU-6395-01A-12D-1705-08		7318155	73877055	25	39271											
TP53	7157	broad.mit.edu	37	chr17	7578502	7578502	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcaacccacagctgcAcagggcaggtcttggccagt	10	7	12	12	0	2	0	1	0	1	0	2	1	2	1	2	4	3	3	2	4	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7578502A>C	ENST00000420246.2	-	5	560	c.428T>G	c.(427-429)gTg>gGg	p.V143G	TP53_ENST00000445888.2_Missense_Mutation_p.V143G|TP53_ENST00000359597.4_Missense_Mutation_p.V143G|TP53_ENST00000269305.4_Missense_Mutation_p.V143G|TP53_ENST00000413465.2_Missense_Mutation_p.V143G|TP53_ENST00000455263.2_Missense_Mutation_p.V143G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	143	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation; strong DNA binding ability at 32.5 degrees Celsius; strong reduction of transcriptional activity at 37.5 degrees Celsius).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (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.V143A(18)|p.0?(8)|p.V143E(5)|p.V11A(2)|p.V50A(2)|p.L137_W146del10(1)|p.P142_Q144delPVQ(1)|p.K139fs*4(1)|p.A138_V143delAKTCPV(1)|p.V143G(1)|p.V143_S149del(1)|p.C141fs*5(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)		CCACAGCTGCACAGGGCAGGT	0.587		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)			C	7578502	A	C	7578502	3	2	367	1	0	0	0	0	1	0	0	0	16482	159	6	5	870	5	TP53	17	7578502	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	260347	7578502	73616708	26	39272											
TP53	7157	broad.mit.edu	37	chr17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C																															atgcaagaagcccagacggaAaccgtagctgccctggtagg																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579362A>C	ENST00000420246.2	-	4	457	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)		CCCAGACGGAAACCGTAGCTG	0.612		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)			C	7579362	A	C	7579362	3	2	367	1	0	0	0	0	1	0	0	0	16482	14	1	5	977	5	TP53	17	7579362	Missense_Mutation	SNP	A	TCGA-DU-6395-01A-12D-1705-08	860	7579362	73615848	27	39273	126	2									
TP53	7157	broad.mit.edu	37	chr17	7579363	7579363	+	Silent	SNP	A	A	C																															tgcaagaagcccagacggaaAccgtagctgccctggtaggt																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr17:7579363A>C	ENST00000420246.2	-	4	456	c.324T>G	c.(322-324)ggT>ggG	p.G108G	TP53_ENST00000445888.2_Silent_p.G108G|TP53_ENST00000359597.4_Silent_p.G108G|TP53_ENST00000269305.4_Silent_p.G108G|TP53_ENST00000413465.2_Silent_p.G108G|TP53_ENST00000455263.2_Silent_p.G108G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	108	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		G -> D (in a sporadic cancer; somatic mutation).|G -> S (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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.G108del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.?_?ins?(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.G108G(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		CCAGACGGAAACCGTAGCTGC	0.617		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)			C	7579363	A	C	7579363	2	2	367	1	0	0	0	0	0	0	0	1	16482	30	2	5		5	TP53	17	7579363	Silent	SNP	A	TCGA-DU-6395-01A-12D-1705-08	1	7579363	73615847	28	39274	126	2									
DLGAP1	9229	broad.mit.edu	37	chr18	3879577	3879577	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagggctggccttgcccccGttgacgctgcccttggacgg	3	9	14	15	3	1	1	1	1	0	0	1	2	1	2	4	4	2	3	4	4	0	3			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr18:3879577G>A	ENST00000315677.3	-	4	1087	c.492C>T	c.(490-492)aaC>aaT	p.N164N	DLGAP1_ENST00000584874.1_Silent_p.N164N|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000581527.1_Silent_p.N164N|DLGAP1_ENST00000515196.2_Silent_p.N164N	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	164					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCTTGCCCCCGTTGACGCTGC	0.711													A	3879577	G	A	3879577	2	1	367	1	0	0	0	0	0	0	0	1	4598	1136	40	1		1	DLGAP1	18	3879577	Silent	SNP	G	TCGA-DU-6395-01A-12D-1705-08		3879577	74197671	29	39275											
PDE4C	5143	broad.mit.edu	37	chr19	18329192	18329192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcgtggactgggccacgtcGgcggcatgtaggctgttgtg	4	10	18	9	4	0	0	0	0	0	0	1	1	0	1	1	5	1	4	1	5	1	2	rs149723522		TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr19:18329192G>A	ENST00000355502.3	-	14	2053	c.1182C>T	c.(1180-1182)gcC>gcT	p.A394A	PDE4C_ENST00000447275.3_Silent_p.A288A|PDE4C_ENST00000539010.1_Silent_p.A163A|PDE4C_ENST00000594617.3_Silent_p.A394A|PDE4C_ENST00000597297.1_Silent_p.A164A|AC068499.10_ENST00000594805.3_RNA|PDE4C_ENST00000598111.2_Intron|PDE4C_ENST00000262805.12_Silent_p.A362A|PDE4C_ENST00000594465.3_Silent_p.A394A			Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific	394					signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	GGGCCACGTCGGCGGCATGTA	0.637													A	18329192	G	A	18329192	2	1	367	1	0	0	0	0	0	0	0	1	11717	1103	39	1		1	PDE4C	19	18329192	Silent	SNP	G	TCGA-DU-6395-01A-12D-1705-08		18329192	40799791	30	39276											
CDH4	1002	broad.mit.edu	37	chr20	60419868	60419868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggaccgggaggagcacGcctcttaccacgtgagtgtc	8	7	13	13	3	1	1	0	1	1	0	2	4	1	4	4	3	2	1	4	3	1	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr20:60419868G>A	ENST00000360469.5	+	5	809	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	CDH4_ENST00000543233.1_Missense_Mutation_p.A167T	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	241	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGAGGAGCACGCCTCTTACCA	0.672													A	60419868	G	A	60419868	3	1	367	1	0	0	0	0	1	0	0	0	3142	1087	38	1	739	1	CDH4	20	60419868	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		60419868	2605652	31	39277											
BAGE2	85319	broad.mit.edu	37	chr21	11058348	11058348	+	RNA	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggggtaaaggagagaaatCtctttataaaaccttgaaaa	19	9	9	4	0	1	2	0	1	1	1	2	4	1	3	1	3	1	1	1	3	9	5			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr21:11058348C>A	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGAGAGAAATCTCTTTATAAA	0.343													A	11058348	C	A	11058348	1	1	367	0	1	0	0	0	0	0	0	0	1297	928	32	4		4	BAGE2	21	11058348	RNA	SNP	C	TCGA-DU-6395-01A-12D-1705-08		11058348	37071547	32	39278											
N6AMT1	29104	broad.mit.edu	37	chr21	30254531	30254531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttacagcgtgctgtcTctagggtacaagctgctgcc	6	13	11	11	1	1	0	0	0	1	0	2	0	1	0	1	1	7	5	1	1	4	4			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr21:30254531T>C	ENST00000303775.5	-	3	288	c.263A>G	c.(262-264)gAg>gGg	p.E88G	N6AMT1_ENST00000351429.3_Missense_Mutation_p.E88G	NM_013240.4	NP_037372	Q9Y5N5	HEMK2_HUMAN	N-6 adenine-specific DNA methyltransferase 1 (putative)	88					positive regulation of cell growth	protein complex	nucleic acid binding|protein binding|protein methyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)	12						GCGTGCTGTCTCTAGGGTACA	0.358													C	30254531	T	C	30254531	3	2	367	1	0	0	0	0	1	0	0	0	10190	1551	54	3	397	3	N6AMT1	21	30254531	Missense_Mutation	SNP	T	TCGA-DU-6395-01A-12D-1705-08	19196183	30254531	17875364	33	39279											
C22orf29	79680	broad.mit.edu	37	chr22	19839287	19839287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagaagagctcgtaatcGtcaggcaggggcaggtcccc	9	6	15	11	2	1	2	1	0	0	2	4	2	2	2	2	5	1	5	2	5	2	1			TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chr22:19839287G>C	ENST00000405640.1	-	2	1166	c.498C>G	c.(496-498)gaC>gaG	p.D166E	GNB1L_ENST00000329517.6_Intron|C22orf29_ENST00000407472.1_Missense_Mutation_p.D166E|C22orf29_ENST00000484072.1_Intron|GNB1L_ENST00000405009.1_Intron|GNB1L_ENST00000460402.1_Intron|C22orf29_ENST00000328554.4_Missense_Mutation_p.D166E|GNB1L_ENST00000403325.1_Intron			Q7L3V2	CV029_HUMAN	chromosome 22 open reading frame 29	166										NS(1)|large_intestine(1)|lung(3)|prostate(1)|urinary_tract(1)	7	Colorectal(54;0.0993)					GCTCGTAATCGTCAGGCAGGG	0.597													C	19839287	G	C	19839287	3	2	367	1	0	0	0	0	1	0	0	0	2162	1136	40	4	600	4	C22orf29	22	19839287	Missense_Mutation	SNP	G	TCGA-DU-6395-01A-12D-1705-08		19839287	31465279	34	39280											
ATRX	546	broad.mit.edu	37	chrX	76938777	76938777	+	Frame_Shift_Del	DEL	T	T	-																															aagggtgtagtctttacacgTggggatcttcgaagatcaga																										TCGA-DU-6395-01A-12D-1705-08	TCGA-DU-6395-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3189bd5c-ac35-4564-bbd1-744e17faf46d	71783be8-05e1-4cf5-9bf1-4f58ce54a273	g.chrX:76938777delT	ENST00000373344.5	-	9	2185	c.1971delA	c.(1969-1971)ccafs	p.P657fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.P619fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	657					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)	TCTTTACACGTGGGGATCTTC	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938777	T	-	76938777	7	5	367	1	0	1	0	1	0	0	0	0	1213	1683	59	0	5615	0	ATRX	23	76938777	Frame_Shift_Del	DEL	T	TCGA-DU-6395-01A-12D-1705-08		76938777	78331783	35	39281											
UBXN10	127733	broad.mit.edu	37	chr1	20517773	20517773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctcctaccgacactgcaGcattgaaacaatggaggtgc	13	7	9	12	1	0	1	0	1	0	0	1	3	1	2	3	2	6	2	3	2	4	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:20517773G>A	ENST00000375099.3	+	2	803	c.719G>A	c.(718-720)aGc>aAc	p.S240N		NM_152376.3	NP_689589.1	Q96LJ8	UBX10_HUMAN	UBX domain protein 10	240	UBX.									endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)|skin(2)	14						CGACACTGCAGCATTGAAACA	0.502													A	20517773	G	A	20517773	3	1	368	1	0	0	0	0	1	0	0	0	17014	971	34	2	721	2	UBXN10	1	20517773	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		20517773	228732848	1	39282											
EIF4G3	8672	broad.mit.edu	37	chr1	21181494	21181494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcacttgcctttgctccaCcactgctgccttttccccag	4	14	5	18	0	1	0	1	0	1	0	4	0	3	0	6	0	4	2	6	0	0	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:21181494C>T	ENST00000602326.1	-	24	3843	c.3260G>A	c.(3259-3261)gGt>gAt	p.G1087D	EIF4G3_ENST00000537738.1_Missense_Mutation_p.G571D|EIF4G3_ENST00000536266.1_Missense_Mutation_p.G685D|EIF4G3_ENST00000374937.3_Missense_Mutation_p.G1087D|EIF4G3_ENST00000400422.1_Missense_Mutation_p.G1081D|EIF4G3_ENST00000264211.8_Missense_Mutation_p.G1081D|EIF4G3_ENST00000374935.3_Missense_Mutation_p.G801D	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1081					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CTTTGCTCCACCACTGCTGCC	0.473													T	21181494	C	T	21181494	3	4	368	1	0	0	0	0	1	0	0	0	5079	507	18	2	1563	2	EIF4G3	1	21181494	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	663721	21181494	228069127	2	39283											
RYR2	6262	broad.mit.edu	37	chr1	237872331	237872331	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcctcatcctagatgagTtcaccacactggccagagat	12	9	7	13	0	2	3	2	1	0	2	4	4	4	3	4	1	1	1	4	1	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr1:237872331T>C	ENST00000366574.2	+	69	10392	c.10075T>C	c.(10075-10077)Ttc>Ctc	p.F3359L	RYR2_ENST00000360064.6_Missense_Mutation_p.F3357L|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.F3343L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3359					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCTAGATGAGTTCACCACACT	0.463													C	237872331	T	C	237872331	3	2	368	1	0	0	0	0	1	0	0	0	13860	1725	60	3	10349	3	RYR2	1	237872331	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	216690837	237872331	11378290	3	39284											
ZNF638	27332	broad.mit.edu	37	chr2	71658529	71658529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactgaagactcttcttcagGcaaatcagtggcgtctgatg	10	11	11	9	1	5	3	2	2	3	1	5	4	5	3	0	2	0	1	0	2	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:71658529G>A	ENST00000409544.1	+	26	6353	c.5723G>A	c.(5722-5724)gGc>gAc	p.G1908D	ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.G1908D|ZNF638_ENST00000409407.1_Missense_Mutation_p.G848D	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1908					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TCTTCTTCAGGCAAATCAGTG	0.413													A	71658529	G	A	71658529	3	1	368	1	0	0	0	0	1	0	0	0	18156	1203	42	2	5821	2	ZNF638	2	71658529	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		71658529	171540844	4	39285											
NCKAP5	344148	broad.mit.edu	37	chr2	133489408	133489408	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaatggcgctatctgcaGggcgctggccgtctgtggag	7	8	16	10	3	2	0	0	0	2	0	2	2	2	1	1	4	2	3	1	4	3	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:133489408G>C	ENST00000409261.1	-	17	5718	c.5345C>G	c.(5344-5346)cCt>cGt	p.P1782R	NCKAP5_ENST00000405974.3_Missense_Mutation_p.P463R|NCKAP5_ENST00000409213.1_Missense_Mutation_p.P463R|NCKAP5_ENST00000317721.6_Missense_Mutation_p.P1782R	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1782							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCTATCTGCAGGGCGCTGGCC	0.587													C	133489408	G	C	133489408	3	2	368	1	0	0	0	0	1	0	0	0	10299	1000	35	4	400	4	NCKAP5	2	133489408	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	61830879	133489408	109709965	5	39286											
THSD7B	80731	broad.mit.edu	37	chr2	138400162	138400162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgcccagtgaccccctgcTacagctgggtccttggcaac	6	8	10	17	0	0	1	0	1	0	0	1	1	1	1	5	2	5	3	5	2	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:138400162T>C	ENST00000409968.1	+	21	4082	c.3904T>C	c.(3904-3906)Tac>Cac	p.Y1302H	THSD7B_ENST00000272643.3_Missense_Mutation_p.Y1305H|THSD7B_ENST00000413152.2_Missense_Mutation_p.Y1274H|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GACCCCCTGCTACAGCTGGGT	0.488													C	138400162	T	C	138400162	3	2	368	1	0	0	0	0	1	0	0	0	15980	1522	53	3	3894	3	THSD7B	2	138400162	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	4910754	138400162	104799211	6	39287											
FASTKD1	79675	broad.mit.edu	37	chr2	170411653	170411653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctaagcagtaattctctaaGtttcgcaaaaaactccttcc	13	12	4	12	1	1	0	0	0	1	0	5	0	3	0	3	0	2	4	3	0	6	6			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:170411653G>A	ENST00000453153.2	-	7	1541	c.1195C>T	c.(1195-1197)Ctt>Ttt	p.L399F	FASTKD1_ENST00000453929.2_Missense_Mutation_p.L399F	NM_024622.3	NP_078898.3	Q53R41	FAKD1_HUMAN	FAST kinase domains 1	399					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(5)|large_intestine(10)|lung(9)|ovary(4)|prostate(3)	37						AATTCTCTAAGTTTCGCAAAA	0.308													A	170411653	G	A	170411653	3	1	368	1	0	0	0	0	1	0	0	0	5734	1029	36	2	1384	2	FASTKD1	2	170411653	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	32011491	170411653	72787720	7	39288											
ZNF385B	151126	broad.mit.edu	37	chr2	180634316	180634316	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactcgtttgcggtgggatTtgccgttggaatgcacctga	6	13	13	9	3	1	1	1	1	0	0	2	3	1	3	2	3	3	3	2	3	1	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:180634316T>A	ENST00000410066.1	-	3	770	c.167A>T	c.(166-168)aAa>aTa	p.K56I		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	56						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			GCGGTGGGATTTGCCGTTGGA	0.567													A	180634316	T	A	180634316	3	1	368	1	0	0	0	0	1	0	0	0	17978	1841	64	5	1309	5	ZNF385B	2	180634316	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08	10222663	180634316	62565057	8	39289											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	368	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	28478796	209113112	34086261	9	39290											
BARD1	580	broad.mit.edu	37	chr2	215610535	215610535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctgaagacagcccactgCctataagtacaagaggtcca	13	8	9	11	0	1	3	0	1	1	2	2	3	2	3	3	1	3	2	3	1	5	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr2:215610535C>T	ENST00000260947.4	-	8	1855	c.1721G>A	c.(1720-1722)gGc>gAc	p.G574D	BARD1_ENST00000449967.2_Missense_Mutation_p.G430D	NM_000465.2|NM_001282543.1|NM_001282545.1|NM_001282548.1	NP_000456.2|NP_001269472.1|NP_001269474.1|NP_001269477.1	Q99728	BARD1_HUMAN	BRCA1 associated RING domain 1	574	BRCT 1.				cell cycle arrest|DNA repair|negative regulation of apoptosis|negative regulation of mRNA 3'-end processing|negative regulation of protein export from nucleus|positive regulation of apoptosis|positive regulation of protein catabolic process|protein K6-linked ubiquitination|regulation of phosphorylation|tissue homeostasis	BRCA1-A complex|BRCA1-BARD1 complex|cytoplasm	kinase binding|protein heterodimerization activity|protein homodimerization activity|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(2)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|prostate(4)|upper_aerodigestive_tract(1)	35		Renal(323;0.0243)		Epithelial(149;3.2e-06)|all cancers(144;0.000461)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CAGCCCACTGCCTATAAGTAC	0.393									Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				T	215610535	C	T	215610535	3	4	368	1	0	0	0	0	1	0	0	0	1317	739	26	2	628	2	BARD1	2	215610535	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	6497423	215610535	27588838	10	39291											
UGT2B4	7363	broad.mit.edu	37	chr4	70352368	70352368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacttgtacagccgagtaTtgagtcctaaagtatctggt	10	13	9	9	1	1	1	0	1	1	0	3	2	3	1	3	1	2	3	3	1	5	6			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr4:70352368T>G	ENST00000305107.6	-	4	1095	c.1049A>C	c.(1048-1050)aAt>aCt	p.N350T	UGT2B4_ENST00000512583.1_Missense_Mutation_p.N350T|UGT2B4_ENST00000381096.3_Missense_Mutation_p.N214T|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	350					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CAGCCGAGTATTGAGTCCTAA	0.343													G	70352368	T	G	70352368	3	3	368	1	0	0	0	0	1	0	0	0	17063	1493	52	5	549	5	UGT2B4	4	70352368	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08		70352368	120801908	11	39292											
ANKRA2	57763	broad.mit.edu	37	chr5	72849256	72849256	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatagcctagggctacagcTagatccatagaattatatcc	13	11	7	10	0	0	2	0	0	0	2	2	2	2	2	3	1	3	2	3	1	9	8			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr5:72849256T>C	ENST00000296785.3	-	8	1519	c.861A>G	c.(859-861)ctA>ctG	p.L287L		NM_023039.4	NP_075526.1	Q9H9E1	ANRA2_HUMAN	ankyrin repeat, family A (RFXANK-like), 2	287						cytoskeleton|cytosol|membrane	low-density lipoprotein particle binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		Lung NSC(167;0.0378)|Ovarian(174;0.0908)		OV - Ovarian serous cystadenocarcinoma(47;3.71e-54)		GGGCTACAGCTAGATCCATAG	0.363													C	72849256	T	C	72849256	2	2	368	1	0	0	0	0	0	0	0	1	636	1509	53	3		3	ANKRA2	5	72849256	Silent	SNP	T	TCGA-DU-6396-01A-11D-1705-08		72849256	108066004	12	39293											
SCGN	10590	broad.mit.edu	37	chr6	25682193	25682193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagatgaagatttttgaCagaaataaagatggtcggtt	14	14	10	3	1	1	6	1	2	0	4	2	6	1	6	0	2	0	1	0	2	4	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:25682193C>G	ENST00000377961.2	+	7	654	c.486C>G	c.(484-486)gaC>gaG	p.D162E	SCGN_ENST00000334979.6_Intron	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	162	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						AGATTTTTGACAGAAATAAAG	0.353													G	25682193	C	G	25682193	3	3	368	1	0	0	0	0	1	0	0	0	13996	477	17	4	512	4	SCGN	6	25682193	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		25682193	145432874	13	39294											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975239	32975239	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtctgggccactccctcagtGacagtttggccgttgcgcag	5	10	13	13	2	2	1	1	1	1	0	3	1	3	1	3	2	1	3	3	2	0	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:32975239G>C	ENST00000229829.5	-	3	537	c.462C>G	c.(460-462)gtC>gtG	p.V154V	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Silent_p.V124V	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	154	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						CTCCCTCAGTGACAGTTTGGC	0.582													C	32975239	G	C	32975239	2	2	368	1	0	0	0	0	0	0	0	1	7255	1277	45	4		4	HLA-DOA	6	32975239	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	7293046	32975239	138139828	14	39295											
TFAP2D	83741	broad.mit.edu	37	chr6	50683278	50683278	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccagatcaaagactcctGccagggcccagcctggggct	9	5	11	16	0	1	2	1	0	0	2	2	2	2	2	5	3	2	1	5	3	1	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr6:50683278G>T	ENST00000008391.3	+	2	717	c.489G>T	c.(487-489)ctG>ctT	p.L163L		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	163							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					AAAGACTCCTGCCAGGGCCCA	0.632													T	50683278	G	T	50683278	2	4	368	1	0	0	0	0	0	0	0	1	15890	1306	46	4		4	TFAP2D	6	50683278	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	17708039	50683278	120431789	15	39296											
MUC17	140453	broad.mit.edu	37	chr7	100679845	100679845	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaacaactcccgttgaCaacagcacacctgtgaccac	12	8	5	16	1	1	2	1	2	0	0	2	2	2	2	3	0	4	2	3	0	3	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:100679845C>A	ENST00000306151.4	+	3	5212	c.5148C>A	c.(5146-5148)gaC>gaA	p.D1716E		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1716	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)					CTCCCGTTGACAACAGCACAC	0.473													A	100679845	C	A	100679845	3	1	368	1	0	0	0	0	1	0	0	0	10050	477	17	4	5158	4	MUC17	7	100679845	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		100679845	58458818	16	39297											
TAS2R16	50833	broad.mit.edu	37	chr7	122634819	122634819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaacctctaggcctagcaCtttccctttagaatcctttt	8	14	6	13	0	1	1	0	0	1	1	3	1	3	1	4	2	2	2	4	2	5	7			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr7:122634819C>G	ENST00000249284.2	-	1	935	c.870G>C	c.(868-870)aaG>aaC	p.K290N		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	290					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AGGCCTAGCACTTTCCCTTTA	0.418													G	122634819	C	G	122634819	3	3	368	1	0	0	0	0	1	0	0	0	15666	564	20	4	9	4	TAS2R16	7	122634819	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	21954974	122634819	36503844	17	39298											
EEF1D	1936	broad.mit.edu	37	chr8	144663399	144663399	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactggcccggggcctcacCgccacgcagactctggttct	5	7	11	18	3	3	1	1	0	2	1	3	1	3	1	5	4	0	2	5	4	0	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr8:144663399C>T	ENST00000532741.1	-	4	1765	c.1537G>A	c.(1537-1539)Gtg>Atg	p.V513M	EEF1D_ENST00000526838.1_Intron|EEF1D_ENST00000317198.6_Splice_Site_p.V97M|EEF1D_ENST00000423316.2_Splice_Site_p.V463M|EEF1D_ENST00000442189.2_Splice_Site_p.V463M|EEF1D_ENST00000395119.3_Splice_Site_p.V97M|EEF1D_ENST00000524624.1_Splice_Site_p.V73M|EEF1D_ENST00000531621.1_Intron|EEF1D_ENST00000532400.1_Intron|EEF1D_ENST00000529272.1_Splice_Site_p.V97M|EEF1D_ENST00000419152.2_Splice_Site_p.V97M|EEF1D_ENST00000528610.1_Splice_Site_p.V73M			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	97					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GGGGCCTCACCGCCACGCAGA	0.692													T	144663399	C	T	144663399	5	4	368	1	0	0	0	0	0	0	1	0	4965	666	23	1	576	1	EEF1D	8	144663399	Splice_Site	SNP	C	TCGA-DU-6396-01A-11D-1705-08		144663399	1700623	18	39299											
BMPR1A	657	broad.mit.edu	37	chr10	88679128	88679128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggcacccaaggaaagccCgcaattgctcatcgagacct	12	7	9	13	2	1	1	1	0	0	1	2	3	1	2	3	2	2	3	3	2	4	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:88679128C>T	ENST00000372037.3	+	10	1605	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA		Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						AAGGAAAGCCCGCAATTGCTC	0.483			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				T	88679128	C	T	88679128	2	4	368	1	0	0	0	0	0	0	0	1	1475	639	23	1		1	BMPR1A	10	88679128	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		88679128	46855619	19	39300											
MKI67	4288	broad.mit.edu	37	chr10	129906452	129906452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggtcttctagagcctgggCcttttccttaggagtctgta	6	14	11	10	0	3	1	0	0	3	1	4	2	4	2	3	3	1	1	3	3	3	6			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr10:129906452C>T	ENST00000368654.3	-	13	4027	c.3652G>A	c.(3652-3654)Gcc>Acc	p.A1218T	MKI67_ENST00000368653.3_Missense_Mutation_p.A858T	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1218	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGAGCCTGGGCCTTTTCCTTA	0.483													T	129906452	C	T	129906452	3	4	368	1	0	0	0	0	1	0	0	0	9673	739	26	2	6130	2	MKI67	10	129906452	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	41227324	129906452	5628295	20	39301											
OR52M1	119772	broad.mit.edu	37	chr11	4567291	4567291	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattcctccaatcctcAatcccattgtctatgctgtt	7	16	3	15	0	3	0	2	0	1	0	8	0	8	0	5	0	1	2	5	0	3	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:4567291A>T	ENST00000360213.1	+	1	871	c.871A>T	c.(871-873)Aat>Tat	p.N291Y		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	291					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCAATCCTCAATCCCATTGT	0.453													T	4567291	A	T	4567291	3	4	368	1	0	0	0	0	1	0	0	0	11202	130	5	5	873	5	OR52M1	11	4567291	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		4567291	130439225	21	39302											
ARAP1	116985	broad.mit.edu	37	chr11	72396719	72396719	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctgtgctcagacgttgCgcagaagctgcaggaaggca	9	7	14	11	2	1	2	1	0	0	2	2	3	2	3	1	2	4	7	1	2	2	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr11:72396719C>G	ENST00000359373.5	-	34	5161	c.4310G>C	c.(4309-4311)cGc>cCc	p.R1437P	ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000334211.8_Missense_Mutation_p.R1203P|ARAP1_ENST00000393605.3_Missense_Mutation_p.R1208P|ARAP1_ENST00000455638.2_Missense_Mutation_p.R1437P|ARAP1_ENST00000426523.1_Missense_Mutation_p.R1192P|ARAP1_ENST00000429686.1_Missense_Mutation_p.R1131P|ARAP1_ENST00000495878.1_5'UTR|ARAP1_ENST00000393609.3_Missense_Mutation_p.R1448P			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1448					actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						TCAGACGTTGCGCAGAAGCTG	0.607													G	72396719	C	G	72396719	3	3	368	1	0	0	0	0	1	0	0	0	841	768	27	4	13	4	ARAP1	11	72396719	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	67829428	72396719	62609797	22	39303											
FGD6	55785	broad.mit.edu	37	chr12	95531311	95531311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatacctcaaattctctaAcaacagcagcaaaacctgga	18	7	4	12	0	2	0	1	0	1	0	3	1	2	1	2	1	6	2	2	1	7	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:95531311A>G	ENST00000343958.4	-	7	3204	c.2981T>C	c.(2980-2982)gTt>gCt	p.V994A	FGD6_ENST00000549499.1_Missense_Mutation_p.V994A|FGD6_ENST00000546711.1_Missense_Mutation_p.V994A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	994	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						AAATTCTCTAACAACAGCAGC	0.328													G	95531311	A	G	95531311	3	3	368	1	0	0	0	0	1	0	0	0	5886	43	2	3	1371	3	FGD6	12	95531311	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		95531311	38320584	23	39304											
CHST11	50515	broad.mit.edu	37	chr12	105151362	105151362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctcgtgggcaagtacgaGacactggaagaggattctaa	13	7	13	8	2	1	2	0	0	1	2	2	6	1	4	1	3	1	2	1	3	4	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:105151362G>C	ENST00000303694.5	+	3	1279	c.840G>C	c.(838-840)gaG>gaC	p.E280D	CHST11_ENST00000549260.1_Missense_Mutation_p.E275D	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	280					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAGTACGAGACACTGGAAG	0.532													C	105151362	G	C	105151362	3	2	368	1	0	0	0	0	1	0	0	0	3429	933	33	4	850	4	CHST11	12	105151362	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	9620051	105151362	28700533	24	39305											
TBX5	6910	broad.mit.edu	37	chr12	114793418	114793418	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggatagagtccttggcacGccatgagagtagaggaactc	11	7	15	8	1	0	3	0	1	0	3	2	6	1	5	2	4	1	2	2	4	3	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:114793418G>A	ENST00000310346.4	-	9	2142	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	TBX5_ENST00000349716.5_Silent_p.G442G|TBX5_ENST00000405440.2_Silent_p.G492G	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	492					cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TCCTTGGCACGCCATGAGAGT	0.602													A	114793418	G	A	114793418	2	1	368	1	0	0	0	0	0	0	0	1	15761	1074	38	1		1	TBX5	12	114793418	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	9642056	114793418	19058477	25	39306											
WDR66	144406	broad.mit.edu	37	chr12	122399967	122399967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagggctgctatcccacCtgcatggtctggtacccacc	7	8	10	16	0	1	0	0	0	1	0	2	1	2	0	5	3	3	4	5	3	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr12:122399967C>T	ENST00000288912.4	+	15	3245	c.2391C>T	c.(2389-2391)acC>acT	p.T797T	WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Silent_p.T797T	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	797							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GCTATCCCACCTGCATGGTCT	0.498													T	122399967	C	T	122399967	2	4	368	1	0	0	0	0	0	0	0	1	17419	668	24	2		2	WDR66	12	122399967	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08	7606549	122399967	11451928	26	39307											
TUBA3C	7278	broad.mit.edu	37	chr13	19751659	19751659	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaatccactgagagccgcTccatgagcagagatgcgaac	12	6	11	12	3	0	3	0	2	0	2	2	6	2	3	3	0	4	3	3	0	2	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr13:19751659T>C	ENST00000400113.3	-	4	568	c.464A>G	c.(463-465)gAg>gGg	p.E155G		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	155					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		TGAGAGCCGCTCCATGAGCAG	0.587													C	19751659	T	C	19751659	3	2	368	1	0	0	0	0	1	0	0	0	16848	1551	54	3	896	3	TUBA3C	13	19751659	Missense_Mutation	SNP	T	TCGA-DU-6396-01A-11D-1705-08		19751659	95418219	27	39308											
MYO5C	55930	broad.mit.edu	37	chr15	52553129	52553129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caacgcttggttaattctctCcacaatgaagtcgaacaggt	12	11	8	10	2	1	1	0	1	1	0	4	2	2	1	1	2	2	2	1	2	5	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:52553129C>T	ENST00000261839.7	-	10	1404	c.1243G>A	c.(1243-1245)Gag>Aag	p.E415K	MYO5C_ENST00000443683.2_Missense_Mutation_p.E358K	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	415	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TTAATTCTCTCCACAATGAAG	0.473													T	52553129	C	T	52553129	3	4	368	1	0	0	0	0	1	0	0	0	10156	864	30	2	4113	2	MYO5C	15	52553129	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		52553129	49978263	28	39309											
ANXA2	302	broad.mit.edu	37	chr15	60653219	60653219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcaccgtctccaggtggCcagataaggctgacttcagt	11	9	10	11	1	3	2	2	1	1	1	4	2	3	2	3	3	0	1	3	3	2	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:60653219C>T	ENST00000396024.3	-	6	437	c.278G>A	c.(277-279)gGc>gAc	p.G93D	ANXA2_ENST00000421017.2_Missense_Mutation_p.G93D|ANXA2_ENST00000451270.2_Missense_Mutation_p.G93D|ANXA2_ENST00000332680.4_Missense_Mutation_p.G111D	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	93					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	CTCCAGGTGGCCAGATAAGGC	0.398													T	60653219	C	T	60653219	3	4	368	1	0	0	0	0	1	0	0	0	718	739	26	2	777	2	ANXA2	15	60653219	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	8100090	60653219	41878173	29	39310											
IL16	3603	broad.mit.edu	37	chr15	81598375	81598375	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgccttggccatcctcCgccaagctcgagagcccagg	8	7	11	15	2	0	2	0	1	0	1	3	3	2	2	6	2	3	1	6	2	1	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr15:81598375C>T	ENST00000394660.2	+	17	3907	c.3547C>T	c.(3547-3549)Cgc>Tgc	p.R1183C	IL16_ENST00000394652.2_Missense_Mutation_p.R482C|IL16_ENST00000302987.4_Missense_Mutation_p.R1183C|RP11-761I4.4_ENST00000607019.1_RNA	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	1183	Interaction with PPP1R12A, PPP1R12B and PPP1R12C.|PDZ 3.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity	p.R1183C(1)|p.R1137C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GGCCATCCTCCGCCAAGCTCG	0.582													T	81598375	C	T	81598375	3	4	368	1	0	0	0	0	1	0	0	0	7691	652	23	1	3609	1	IL16	15	81598375	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	20945156	81598375	20933017	30	39311											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	368	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08		7577121	73618089	31	39312											
SEZ6	124925	broad.mit.edu	37	chr17	27286489	27286489	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgatctccccgctgcacacGgctggaaggcagaggaggcc	8	5	15	13	2	1	2	0	1	1	1	2	4	1	4	3	5	1	4	3	5	1	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:27286489G>A	ENST00000317338.12	-	9	2201	c.1773C>T	c.(1771-1773)gcC>gcT	p.A591A	PIPOX_ENST00000583215.1_Intron|SEZ6_ENST00000335960.6_Intron|SEZ6_ENST00000360295.9_Splice_Site_p.A591A|SEZ6_ENST00000442608.3_Splice_Site_p.A591A			Q53EL9	SEZ6_HUMAN	seizure related 6 homolog (mouse)	591	Sushi 2.					integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	29	Lung NSC(42;0.0137)		Epithelial(11;4.73e-06)|all cancers(11;2.91e-05)|BRCA - Breast invasive adenocarcinoma(11;8.06e-05)|OV - Ovarian serous cystadenocarcinoma(11;0.111)			CGCTGCACACGGCTGGAAGGC	0.602													A	27286489	G	A	27286489	5	1	368	1	0	0	0	0	0	0	1	0	14235	1130	39	1	1260	1	SEZ6	17	27286489	Splice_Site	SNP	G	TCGA-DU-6396-01A-11D-1705-08	19709368	27286489	53908721	32	39313											
DCAKD	79877	broad.mit.edu	37	chr17	43101983	43101983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgtctaggacatggcgggCcatgcgggccttgtctgtca	5	11	15	10	2	3	0	1	0	2	0	3	1	3	1	2	4	1	1	2	4	1	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:43101983C>T	ENST00000452796.2	-	4	769	c.514G>A	c.(514-516)Gcc>Acc	p.A172T	DCAKD_ENST00000342350.5_Missense_Mutation_p.A172T|DCAKD_ENST00000588499.1_Missense_Mutation_p.A172T			Q8WVC6	DCAKD_HUMAN	dephospho-CoA kinase domain containing	172	DPCK.				coenzyme A biosynthetic process		ATP binding|dephospho-CoA kinase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)	6		Prostate(33;0.155)				ACATGGCGGGCCATGCGGGCC	0.642													T	43101983	C	T	43101983	3	4	368	1	0	0	0	0	1	0	0	0	4313	739	26	2	185	2	DCAKD	17	43101983	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	15815494	43101983	38093227	33	39314											
KIF2B	84643	broad.mit.edu	37	chr17	51900796	51900796	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggacagcctggatgtgagGgtccccagcaaaccttgtct	8	8	14	11	0	1	1	0	1	1	0	2	3	2	3	4	4	3	1	4	4	1	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:51900796G>T	ENST00000268919.4	+	1	558	c.402G>T	c.(400-402)agG>agT	p.R134S		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	134					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TGGATGTGAGGGTCCCCAGCA	0.587													T	51900796	G	T	51900796	3	4	368	1	0	0	0	0	1	0	0	0	8356	1223	43	4	404	4	KIF2B	17	51900796	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	8798813	51900796	29294414	34	39315											
SLC38A10	124565	broad.mit.edu	37	chr17	79249788	79249788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctgctcacacagcagcGtgctcagggcctgcctgcat	6	8	11	16	1	2	0	2	0	0	0	2	0	2	0	3	1	7	5	3	1	0	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr17:79249788G>A	ENST00000374759.3	-	8	1276	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SLC38A10_ENST00000546352.1_5'UTR|SLC38A10_ENST00000288439.5_Missense_Mutation_p.T298M	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	298					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			ACACAGCAGCGTGCTCAGGGC	0.612													A	79249788	G	A	79249788	3	1	368	1	0	0	0	0	1	0	0	0	14696	1145	40	1	2780	1	SLC38A10	17	79249788	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	27348992	79249788	1945422	35	39316											
KCNG2	26251	broad.mit.edu	37	chr18	77659303	77659303	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcgtgcgctgcgcgtgctCtacgtgatgcgcctggcgcg	2	9	16	14	8	1	1	0	1	1	0	1	1	1	1	1	1	6	2	1	1	1	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr18:77659303C>G	ENST00000316249.3	+	2	888	c.888C>G	c.(886-888)ctC>ctG	p.L296L	KCNG2_ENST00000590307.1_3'UTR	NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	296					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity	p.L296L(1)		breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		TGCGCGTGCTCTACGTGATGC	0.741													G	77659303	C	G	77659303	2	3	368	1	0	0	0	0	0	0	0	1	8086	900	32	4		4	KCNG2	18	77659303	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		77659303	417945	36	39317											
CREB3L3	84699	broad.mit.edu	37	chr19	4171094	4171094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgtctctctaaggtccctCttggagcaactgaagaaact	10	11	8	12	0	3	2	0	1	3	1	5	3	4	3	2	2	3	1	2	2	4	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:4171094C>G	ENST00000602147.1	+	7	870	c.790C>G	c.(790-792)Ctt>Gtt	p.L264V	CREB3L3_ENST00000595923.1_Silent_p.L298L|CREB3L3_ENST00000602257.1_Silent_p.L297L|CREB3L3_ENST00000252587.3_Intron|CREB3L3_ENST00000078445.2_Silent_p.L299L			Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	387					response to unfolded protein	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TAAGGTCCCTCTTGGAGCAAC	0.612													G	4171094	C	G	4171094	3	3	368	1	0	0	0	0	1	0	0	0	3889	900	32	4	927	4	CREB3L3	19	4171094	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		4171094	54957889	37	39318											
LRRC8E	80131	broad.mit.edu	37	chr19	7960545	7960545	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcctgcgttcaaggtGctcaaaccctggtgggacgt	8	8	13	12	2	2	0	2	0	0	0	2	1	2	1	2	3	5	3	2	3	2	1	rs143317661	byFrequency	TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:7960545G>T	ENST00000306708.6	+	2	158	c.57G>T	c.(55-57)gtG>gtT	p.V19V		NM_001268284.1|NM_001268285.1|NM_025061.4	NP_001255213.1|NP_001255214.1|NP_079337.2	Q6NSJ5	LRC8E_HUMAN	leucine rich repeat containing 8 family, member E	19						integral to membrane				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(10)	35						CGTTCAAGGTGCTCAAACCCT	0.627													T	7960545	G	T	7960545	2	4	368	1	0	0	0	0	0	0	0	1	9095	1306	46	4		4	LRRC8E	19	7960545	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	3789451	7960545	51168438	38	39319											
LRFN1	57622	broad.mit.edu	37	chr19	39798915	39798915	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgccatacaccttataGcggatcatgagcagaacgat	12	8	9	12	4	1	2	1	1	0	1	2	4	1	3	3	1	4	1	3	1	4	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:39798915G>C	ENST00000248668.4	-	2	1673	c.1674C>G	c.(1672-1674)cgC>cgG	p.R558R		NM_020862.1	NP_065913.1	Q9P244	LRFN1_HUMAN	leucine rich repeat and fibronectin type III domain containing 1	558						cell junction|integral to membrane|postsynaptic density|postsynaptic membrane				central_nervous_system(2)|cervix(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(60;1.85e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.96e-27)|all cancers(26;2.05e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACACCTTATAGCGGATCATGA	0.657													C	39798915	G	C	39798915	2	2	368	1	0	0	0	0	0	0	0	1	9007	958	34	4		4	LRFN1	19	39798915	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	31838370	39798915	19330068	39	39320											
SPTBN4	57731	broad.mit.edu	37	chr19	41063165	41063165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcataagttcttcagtgaCgcccgagagcttcagggaca	10	10	10	11	2	4	2	3	1	1	1	4	4	4	3	1	1	1	2	1	1	1	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:41063165C>T	ENST00000352632.3	+	26	5612	c.5526C>T	c.(5524-5526)gaC>gaT	p.D1842D	SPTBN4_ENST00000595535.1_Silent_p.D1842D|SPTBN4_ENST00000392025.1_Silent_p.D585D|SPTBN4_ENST00000598249.1_Silent_p.D1842D|SPTBN4_ENST00000392023.1_Silent_p.D518D|SPTBN4_ENST00000338932.3_Silent_p.D1842D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1842					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCTTCAGTGACGCCCGAGAGC	0.657													T	41063165	C	T	41063165	2	4	368	1	0	0	0	0	0	0	0	1	15217	535	19	1		1	SPTBN4	19	41063165	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08	1264250	41063165	18065818	40	39321											
LIM2	3982	broad.mit.edu	37	chr19	51885677	51885678	+	Frame_Shift_Ins	INS	-	-	A																															gtgggcttactcacttgaggINSaaaaaaacatgatgccagca																										TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr19:51885677_51885678insA	ENST00000221973.3	-	3	487_488	c.445_446insT	c.(445-447)tccfs	p.S149fs	LIM2_ENST00000596399.1_Frame_Shift_Ins_p.S107fs	NM_030657.3	NP_085915.2	P55344	LMIP_HUMAN	lens intrinsic membrane protein 2, 19kDa	107					cell-cell junction assembly	cell junction|integral to membrane	structural constituent of eye lens			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000214)|OV - Ovarian serous cystadenocarcinoma(262;0.00985)		CTCACTTGAGGAAAAAAACATG	0.564													A	51885678	-	A	51885677	7	5	368	1	0	1	1	0	0	0	0	0	8855	1174	41	0	213	0	LIM2	19	51885677	Frame_Shift_Ins	INS	-	TCGA-DU-6396-01A-11D-1705-08	10822512	51885677	7243306	41	39322											
GZF1	64412	broad.mit.edu	37	chr20	23350986	23350986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggtgtcccaggacaccCtcctggccaccaccatcagt	7	7	9	18	1	1	0	1	0	0	0	3	1	3	1	7	3	0	0	7	3	0	0			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:23350986C>T	ENST00000338121.5	+	6	2121	c.2044C>T	c.(2044-2046)Ctc>Ttc	p.L682F	GZF1_ENST00000542987.1_Missense_Mutation_p.L191F|GZF1_ENST00000377051.2_Missense_Mutation_p.L682F|GZF1_ENST00000544236.1_Missense_Mutation_p.L206F			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	682					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CCAGGACACCCTCCTGGCCAC	0.552													T	23350986	C	T	23350986	3	4	368	1	0	0	0	0	1	0	0	0	6969	681	24	2	2062	2	GZF1	20	23350986	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08		23350986	39674534	42	39323											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	9	8	10	14	1	1	0	0	0	1	0	1	0	1	0	4	2	4	4	4	2	2	4			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W|RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597													T	62324513	C	T	62324513	3	4	368	1	0	0	0	0	1	0	0	0	13811	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-DU-6396-01A-11D-1705-08	38973527	62324513	701007	43	39324											
TBX1	6899	broad.mit.edu	37	chr22	19751681	19751681	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accccgtgccgctccaggtaCgccttccacagctcctcctg	5	8	8	20	3	0	0	0	0	0	0	4	0	4	0	8	1	3	3	8	1	1	2			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:19751681C>T	ENST00000332710.4	+	5	645	c.516C>T	c.(514-516)taC>taT	p.Y172Y	TBX1_ENST00000329705.7_Silent_p.Y172Y|TBX1_ENST00000359500.3_Silent_p.Y172Y	NM_080647.1	NP_542378.1	O43435	TBX1_HUMAN	T-box 1	172					embryonic viscerocranium morphogenesis|heart development|parathyroid gland development|pharyngeal system development|regulation of transcription from RNA polymerase II promoter|soft palate development|thymus development	nucleus	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|lung(3)|ovary(2)	8	Colorectal(54;0.0993)	all_lung(157;3.05e-06)				GCTCCAGGTACGCCTTCCACA	0.667													T	19751681	C	T	19751681	2	4	368	1	0	0	0	0	0	0	0	1	15750	547	19	1		1	TBX1	22	19751681	Silent	SNP	C	TCGA-DU-6396-01A-11D-1705-08		19751681	31552885	44	39325											
APOL4	80832	broad.mit.edu	37	chr22	36587386	36587386	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatttataggtacatatcGccaagcaatcaaagggcgtc	15	9	8	9	2	1	0	1	0	0	0	3	0	1	0	1	2	3	2	1	2	8	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chr22:36587386G>A	ENST00000332987.1	-	7	1203	c.781C>T	c.(781-783)Cga>Tga	p.R261*	APOL4_ENST00000405511.1_3'UTR|APOL4_ENST00000429038.2_3'UTR|APOL4_ENST00000404685.3_3'UTR|APOL4_ENST00000352371.1_Nonsense_Mutation_p.R264*|APOL4_ENST00000479929.1_5'UTR			Q9BPW4	APOL4_HUMAN	apolipoprotein L, 4	265					lipid metabolic process|lipid transport|lipoprotein metabolic process	extracellular region	lipid binding			lung(1)	1						GGTACATATCGCCAAGCAATC	0.483													A	36587386	G	A	36587386	4	1	368	1	0	0	0	0	0	1	0	0	811	1087	38	1	266	1	APOL4	22	36587386	Nonsense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	16835705	36587386	14717180	45	39326											
GPR64	10149	broad.mit.edu	37	chrX	19027859	19027859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacttatagtcgtgtttgaaAagttcagctgtaggccaatg	11	13	11	6	1	1	1	1	1	0	0	2	2	1	1	1	1	1	4	1	1	6	5			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:19027859A>T	ENST00000379878.3	-	17	1500	c.1259T>A	c.(1258-1260)tTt>tAt	p.F420Y	GPR64_ENST00000357991.3_Missense_Mutation_p.F433Y|GPR64_ENST00000356606.4_Missense_Mutation_p.F422Y|GPR64_ENST00000340581.3_Missense_Mutation_p.F406Y|GPR64_ENST00000379869.3_Missense_Mutation_p.F436Y|GPR64_ENST00000360279.4_Missense_Mutation_p.F414Y|GPR64_ENST00000357544.3_Missense_Mutation_p.F406Y|GPR64_ENST00000379876.1_Missense_Mutation_p.F412Y|GPR64_ENST00000354791.3_Missense_Mutation_p.F420Y|GPR64_ENST00000379873.2_Missense_Mutation_p.F436Y	NM_001184833.1	NP_001171762.1	Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	436					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CGTGTTTGAAAAGTTCAGCTG	0.398													T	19027859	A	T	19027859	3	4	368	1	0	0	0	0	1	0	0	0	6759	14	1	5	1794	5	GPR64	23	19027859	Missense_Mutation	SNP	A	TCGA-DU-6396-01A-11D-1705-08		19027859	136242701	46	39327											
SAT1	6303	broad.mit.edu	37	chrX	23801978	23801978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggttgcagaagtgccGaaagagcactggactccgga	10	7	14	10	2	0	2	0	0	0	2	1	5	1	4	3	3	4	3	3	3	2	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:23801978G>A	ENST00000379270.4	+	3	359	c.180G>A	c.(178-180)ccG>ccA	p.P60P	SAT1_ENST00000379254.1_Intron|SAT1_ENST00000379253.3_Silent_p.P60P|SAT1_ENST00000489394.1_3'UTR|SAT1_ENST00000379251.3_Silent_p.P90P	NM_002970.2	NP_002961.1	P21673	SAT1_HUMAN	spermidine/spermine N1-acetyltransferase 1	60	N-acetyltransferase.				angiogenesis|polyamine biosynthetic process	cytosol	diamine N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(3)|lung(3)	10					Spermine(DB00127)	CAGAAGTGCCGAAAGAGCACT	0.542													A	23801978	G	A	23801978	2	1	368	1	0	0	0	0	0	0	0	1	13943	1045	37	1		1	SAT1	23	23801978	Silent	SNP	G	TCGA-DU-6396-01A-11D-1705-08	4774119	23801978	131468582	47	39328											
POLA1	5422	broad.mit.edu	37	chrX	24735546	24735546	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaaggcttgggacaaagaGagtgagccagcagaggaagt	14	4	16	7	0	0	3	0	1	0	2	0	6	0	5	2	3	2	2	2	3	3	1			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:24735546G>C	ENST00000379068.3	+	9	889	c.846G>C	c.(844-846)gaG>gaC	p.E282D	POLA1_ENST00000379059.3_Missense_Mutation_p.E276D			P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit	276					cell proliferation|DNA replication checkpoint|DNA replication, synthesis of RNA primer|DNA-dependent DNA replication initiation|double-strand break repair via nonhomologous end joining|interspecies interaction between organisms|lagging strand elongation|leading strand elongation|M/G1 transition of mitotic cell cycle|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|cytoplasm|nuclear envelope|nuclear matrix|nucleolus|nucleoplasm	chromatin binding|DNA-directed DNA polymerase activity|metal ion binding|nucleoside binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Clofarabine(DB00631)|Fludarabine(DB01073)	GGGACAAAGAGAGTGAGCCAG	0.498													C	24735546	G	C	24735546	3	2	368	1	0	0	0	0	1	0	0	0	12264	933	33	4	862	4	POLA1	23	24735546	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	933568	24735546	130535014	48	39329											
TRO	7216	broad.mit.edu	37	chrX	54955789	54955789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacccacaacgagcacaGtcttcagtagtgcgcttagc	10	8	10	13	2	2	0	1	0	1	0	2	1	2	0	1	0	5	4	1	0	3	3			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:54955789G>A	ENST00000173898.7	+	12	2744	c.2632G>A	c.(2632-2634)Gtc>Atc	p.V878I	TRO_ENST00000319167.8_Intron|TRO_ENST00000375022.4_Intron|TRO_ENST00000399736.1_Intron|TRO_ENST00000420798.2_Missense_Mutation_p.V409I|TRO_ENST00000375041.2_Missense_Mutation_p.V481I	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	878	62 X 10 AA approximate tandem repeats.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						AACGAGCACAGTCTTCAGTAG	0.567													A	54955789	G	A	54955789	3	1	368	1	0	0	0	0	1	0	0	0	16675	1029	36	2	2674	2	TRO	23	54955789	Missense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	30220243	54955789	100314771	49	39330											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-DU-6396-01A-11D-1705-08	TCGA-DU-6396-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb4a697c-3444-49ed-9085-cec75607f61d	2c1dd78a-2e86-4815-b003-63d5cfc62e38	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909629	G	A	76909629	4	1	368	1	0	0	0	0	0	1	0	0	1213	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-6396-01A-11D-1705-08	21953840	76909629	78360931	50	39331											
FUBP1	8880	broad.mit.edu	37	chr1	78444677	78444678	+	Frame_Shift_Del	DEL	AT	AT	-																															gaggggggaggcactgttgaAtagtctgccatggttgcact																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:78444677_78444678delAT	ENST00000370767.1	-	1	98_99	c.11_12delAT	c.(10-12)tatfs	p.Y4fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y4fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y4fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	4					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCACTGTTGAATAGTCTGCCAT	0.559			"F, N"		oligodendroglioma								-	78444678	AT	-	78444677	7	5	369	1	0	1	0	1	0	0	0	0	6144	108	4	0	2002	0	FUBP1	1	78444677	Frame_Shift_Del	DEL	AT	TCGA-DU-6397-01A-11D-1705-08		78444677	170805944	1	39332											
FLG	2312	broad.mit.edu	37	chr1	152282972	152282972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcgggatccttgtcttcCtccagtgctgggtgcagtct	4	13	13	11	1	2	0	0	0	2	0	5	1	5	1	3	3	2	2	3	3	0	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:152282972C>G	ENST00000368799.1	-	3	4425	c.4390G>C	c.(4390-4392)Gga>Cga	p.G1464R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1464	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTTGTCTTCCTCCAGTGCTG	0.572									Ichthyosis				G	152282972	C	G	152282972	3	3	369	1	0	0	0	0	1	0	0	0	5971	690	24	4	7799	4	FLG	1	152282972	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	73838295	152282972	96967649	2	39333											
RXRG	6258	broad.mit.edu	37	chr1	165389141	165389141	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacagatggcacagatgtgTttaaccagagatccggggct	11	8	12	10	1	0	3	0	0	0	3	1	4	1	3	3	3	1	3	3	3	1	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr1:165389141T>A	ENST00000359842.5	-	3	710	c.408A>T	c.(406-408)aaA>aaT	p.K136N	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	136	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	CACAGATGTGTTTAACCAGAG	0.537													A	165389141	T	A	165389141	3	1	369	1	0	0	0	0	1	0	0	0	13856	1722	60	5	1015	5	RXRG	1	165389141	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	13106169	165389141	83861480	3	39334											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	369	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		209113112	34086261	4	39335											
FRMD4B	23150	broad.mit.edu	37	chr3	69230517	69230518	+	Frame_Shift_Del	DEL	TT	TT	-																															aagacggtggctcctgactcTttgagtaaacaccattcctc																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:69230517_69230518delTT	ENST00000542259.1	-	22	2672_2673	c.2221_2222delAA	c.(2221-2223)aagfs	p.K741fs	FRMD4B_ENST00000478263.1_Frame_Shift_Del_p.K447fs|FRMD4B_ENST00000398540.3_Frame_Shift_Del_p.K795fs			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	795						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CTCCTGACTCTTTGAGTAAACA	0.446													-	69230518	TT	-	69230517	7	5	369	1	0	1	0	1	0	0	0	0	6104	1609	56	0	732	0	FRMD4B	3	69230517	Frame_Shift_Del	DEL	TT	TCGA-DU-6397-01A-11D-1705-08		69230517	128791913	5	39336											
GXYLT2	727936	broad.mit.edu	37	chr3	73024258	73024258	+	Frame_Shift_Del	DEL	G	G	-																															aattgagaaaacaatgaaaaGggcttatgagaaacacgtca																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:73024258delG	ENST00000389617.4	+	7	1441	c.1280delG	c.(1279-1281)aggfs	p.R427fs		NM_001080393.1	NP_001073862.1	A0PJZ3	GXLT2_HUMAN	glucoside xylosyltransferase 2	427					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	18						ACAATGAAAAGGGCTTATGAG	0.413													-	73024258	G	-	73024258	7	5	369	1	0	1	0	1	0	0	0	0	6959	1000	35	0	1306	0	GXYLT2	3	73024258	Frame_Shift_Del	DEL	G	TCGA-DU-6397-01A-11D-1705-08	3793741	73024258	124998172	6	39337											
OR5AC2	81050	broad.mit.edu	37	chr3	97806608	97806608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaatggtccatctattaacGcactaatgatatttattttt	12	17	5	7	1	1	1	0	1	1	0	2	1	2	1	1	1	1	2	1	1	6	8			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:97806608G>A	ENST00000358642.2	+	1	592	c.592G>A	c.(592-594)Gca>Aca	p.A198T		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A198T(2)		endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						ATCTATTAACGCACTAATGAT	0.289													A	97806608	G	A	97806608	3	1	369	1	0	0	0	0	1	0	0	0	11217	1087	38	1	594	1	OR5AC2	3	97806608	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	24782350	97806608	100215822	7	39338											
RETNLB	84666	broad.mit.edu	37	chr3	108475916	108475916	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagttacctagactgttGagaacatccttgatcttctt	10	15	7	9	0	3	3	1	2	2	2	4	4	4	3	2	0	2	2	2	0	3	6			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr3:108475916G>T	ENST00000295755.6	-	1	315	c.117C>A	c.(115-117)ctC>ctA	p.L39L		NM_032579.2	NP_115968.1	Q9BQ08	RETNB_HUMAN	resistin like beta	39					cell proliferation	extracellular region	hormone activity			endometrium(1)|kidney(3)|lung(10)|prostate(1)|skin(1)	16						CTAGACTGTTGAGAACATCCT	0.498													T	108475916	G	T	108475916	2	4	369	1	0	0	0	0	0	0	0	1	13325	1277	45	4		4	RETNLB	3	108475916	Silent	SNP	G	TCGA-DU-6397-01A-11D-1705-08	10669308	108475916	89546514	8	39339											
KIT	3815	broad.mit.edu	37	chr4	55573431	55573431	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggaagattatcccaagTctgagaatgaaagtaatatc	17	10	9	5	0	1	3	0	2	1	2	3	5	2	4	1	1	0	1	1	1	8	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:55573431T>A	ENST00000288135.5	+	6	1190	c.1093T>A	c.(1093-1095)Tct>Act	p.S365T		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	365	Ig-like C2-type 4.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TTATCCCAAGTCTGAGAATGA	0.403		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55573431	T	A	55573431	3	1	369	1	0	0	0	0	1	0	0	0	8387	1667	58	5	1115	5	KIT	4	55573431	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08		55573431	135580845	9	39340											
ALPK1	80216	broad.mit.edu	37	chr4	113352721	113352721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaacagatgcccttgacacCcttctcgcctcataataccc	10	9	5	17	1	2	2	1	1	1	1	3	2	2	2	4	0	3	1	4	0	3	4			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:113352721C>A	ENST00000458497.1	+	11	2297	c.2018C>A	c.(2017-2019)cCc>cAc	p.P673H	ALPK1_ENST00000177648.9_Missense_Mutation_p.P673H|ALPK1_ENST00000504176.2_Missense_Mutation_p.P595H	NM_001102406.1|NM_025144.3	NP_001095876.1|NP_079420.3	Q96QP1	ALPK1_HUMAN	alpha-kinase 1	673							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(20)|ovary(6)|prostate(2)|urinary_tract(1)	53		Ovarian(17;0.0446)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00325)		CCCTTGACACCCTTCTCGCCT	0.493													A	113352721	C	A	113352721	3	1	369	1	0	0	0	0	1	0	0	0	544	623	22	4	2052	4	ALPK1	4	113352721	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	57779290	113352721	77801555	10	39341											
FSTL5	56884	broad.mit.edu	37	chr4	162577517	162577517	+	Missense_Mutation	SNP	T	T	C																															ctaaattatttagaataataTtgttccttttccagataatg																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577517T>C	ENST00000306100.5	-	7	1293	c.857A>G	c.(856-858)aAt>aGt	p.N286S	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.N285S|FSTL5_ENST00000379164.4_Missense_Mutation_p.N285S|FSTL5_ENST00000427802.2_Missense_Mutation_p.N285S	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	286	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TAGAATAATATTGTTCCTTTT	0.353													C	162577517	T	C	162577517	3	2	369	1	0	0	0	0	1	0	0	0	6132	1493	52	3	1726	3	FSTL5	4	162577517	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	49224796	162577517	28576759	11	39342	127	2									
FSTL5	56884	broad.mit.edu	37	chr4	162577525	162577525	+	Missense_Mutation	SNP	T	T	A																															tttagaataatattgttcctTttccagataatgggaggtct																								rs61746784		TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr4:162577525T>A	ENST00000306100.5	-	7	1285	c.849A>T	c.(847-849)aaA>aaT	p.K283N	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Missense_Mutation_p.K282N|FSTL5_ENST00000379164.4_Missense_Mutation_p.K282N|FSTL5_ENST00000427802.2_Missense_Mutation_p.K282N	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	283	Ig-like 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTGTTCCTTTTCCAGATAA	0.353													A	162577525	T	A	162577525	3	1	369	1	0	0	0	0	1	0	0	0	6132	1838	64	5	1734	5	FSTL5	4	162577525	Missense_Mutation	SNP	T	TCGA-DU-6397-01A-11D-1705-08	8	162577525	28576751	12	39343	127	2									
MCC	4163	broad.mit.edu	37	chr5	112439958	112439958	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgtccacctcggccacGgagaggctgcagctgctctt	5	10	12	14	2	1	1	0	0	1	1	3	2	2	1	3	3	4	5	3	3	0	2	rs142794653	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:112439958G>T	ENST00000302475.4	-	5	1115	c.552C>A	c.(550-552)tcC>tcA	p.S184S	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000408903.3_Silent_p.S374S|MCC_ENST00000515367.2_Silent_p.S121S	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	184					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		CCTCGGCCACGGAGAGGCTGC	0.572													T	112439958	G	T	112439958	2	4	369	1	0	0	0	0	0	0	0	1	9448	1103	39	4		4	MCC	5	112439958	Silent	SNP	G	TCGA-DU-6397-01A-11D-1705-08		112439958	68475302	13	39344											
UBLCP1	134510	broad.mit.edu	37	chr5	158697549	158697549	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattagggaagaaaacctaCtgaaaatttctcgcagagtg	15	9	9	8	1	1	3	0	1	1	2	2	4	1	4	2	1	2	1	2	1	7	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr5:158697549C>A	ENST00000296786.6	+	5	672	c.346C>A	c.(346-348)Ctg>Atg	p.L116M		NM_145049.3	NP_659486.2	Q8WVY7	UBCP1_HUMAN	ubiquitin-like domain containing CTD phosphatase 1	116						nucleus	phosphoprotein phosphatase activity			endometrium(1)|kidney(3)|large_intestine(4)|ovary(1)	9	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AGAAAACCTACTGAAAATTTC	0.333													A	158697549	C	A	158697549	3	1	369	1	0	0	0	0	1	0	0	0	16993	564	20	4	360	4	UBLCP1	5	158697549	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	46257591	158697549	22217711	14	39345											
RREB1	6239	broad.mit.edu	37	chr6	7229828	7229828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgccgccccactgcaggCgatcttcaagcacatgcccc	7	6	8	20	2	2	0	1	0	1	0	2	1	2	0	6	1	4	2	6	1	1	1			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:7229828C>T	ENST00000379938.2	+	10	2033	c.1496C>T	c.(1495-1497)gCg>gTg	p.A499V	RREB1_ENST00000379933.3_Missense_Mutation_p.A499V|RREB1_ENST00000349384.6_Missense_Mutation_p.A499V|RREB1_ENST00000334984.6_Missense_Mutation_p.A499V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	499	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACTGCAGGCGATCTTCAAG	0.642													T	7229828	C	T	7229828	3	4	369	1	0	0	0	0	1	0	0	0	13770	768	27	1	1522	1	RREB1	6	7229828	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		7229828	163885239	15	39346											
OR2H2	7932	broad.mit.edu	37	chr6	29556084	29556084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgatggcttttgatcgctaCgtggctgtctgccagcccct	4	13	12	12	2	1	2	0	2	1	0	2	2	1	2	3	2	3	3	3	2	1	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:29556084C>T	ENST00000383640.2	+	1	402	c.363C>T	c.(361-363)taC>taT	p.Y121Y	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	121					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						TTGATCGCTACGTGGCTGTCT	0.577													T	29556084	C	T	29556084	2	4	369	1	0	0	0	0	0	0	0	1	11078	547	19	1		1	OR2H2	6	29556084	Silent	SNP	C	TCGA-DU-6397-01A-11D-1705-08	22326256	29556084	141558983	16	39347											
GPR115	221393	broad.mit.edu	37	chr6	47682356	47682356	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaatgtgtggtttatcAtaggctctcactttaacatt	9	16	7	9	0	2	0	2	0	1	0	3	0	2	0	1	2	2	2	1	2	4	6			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr6:47682356A>G	ENST00000283303.2	+	6	1633	c.1375A>G	c.(1375-1377)Ata>Gta	p.I459V	GPR115_ENST00000327753.3_Missense_Mutation_p.I459V|GPR115_ENST00000371220.1_Missense_Mutation_p.I516V	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	459					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						GTGGTTTATCATAGGCTCTCA	0.458													G	47682356	A	G	47682356	3	3	369	1	0	0	0	0	1	0	0	0	6686	217	8	3	1393	3	GPR115	6	47682356	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08	18126272	47682356	123432711	17	39348											
CNTNAP2	26047	broad.mit.edu	37	chr7	147914572	147914572	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcattctcctctacatcaGctccttcaccacagacttct	8	13	3	17	0	5	1	2	0	3	1	7	1	6	1	3	0	3	2	3	0	1	4			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr7:147914572G>C	ENST00000361727.3	+	19	3719	c.3203G>C	c.(3202-3204)aGc>aCc	p.S1068T	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.S127T	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1068	Laminin G-like 4.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTCTACATCAGCTCCTTCACC	0.557										HNSCC(39;0.1)			C	147914572	G	C	147914572	3	2	369	1	0	0	0	0	1	0	0	0	3678	971	34	4	3277	4	CNTNAP2	7	147914572	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08		147914572	11224091	18	39349											
C8orf47	203111	broad.mit.edu	37	chr8	99101783	99101784	+	Frame_Shift_Ins	INS	-	-	A																															ggaggtcactgagaatccacINSaaactgctgcagagatgaag																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:99101783_99101784insA	ENST00000318528.3	+	2	897_898	c.538_539insA	c.(538-540)caafs	p.Q180fs	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	180										kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TGAGAATCCACAAACTGCTGCA	0.52													A	99101784	-	A	99101783	7	5	369	1	0	1	1	0	0	0	0	0	2457	479	17	0	544	0	C8orf47	8	99101783	Frame_Shift_Ins	INS	-	TCGA-DU-6397-01A-11D-1705-08		99101783	47262239	19	39350											
ATAD2	29028	broad.mit.edu	37	chr8	124368657	124368657	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcttgcctgcttgaccGtactggagccagaccatcaa	9	10	9	13	1	2	3	1	2	1	1	2	4	2	4	4	1	4	2	4	1	2	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr8:124368657G>A	ENST00000521903.1	-	0	1982				ATAD2_ENST00000287394.5_Missense_Mutation_p.R540W			Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2						regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			CTGCTTGACCGTACTGGAGCC	0.418													A	124368657	G	A	124368657	1	1	369	1	0	0	0	0	0	0	0	0	1076	1144	40	1		1	ATAD2	8	124368657	Translation_Start_Site	SNP	G	TCGA-DU-6397-01A-11D-1705-08	25266874	124368657	21995365	20	39351											
RUFY2	55680	broad.mit.edu	37	chr10	70141155	70141155	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctagctcattctctacaTcctgcaatttcaatgtatcc	9	15	4	13	0	3	0	2	0	1	0	6	0	5	0	2	0	4	4	2	0	5	5			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr10:70141155T>C	ENST00000388768.2	-	11	1372	c.1046A>G	c.(1045-1047)gAt>gGt	p.D349G	RUFY2_ENST00000454950.2_Splice_Site_p.D256G|RUFY2_ENST00000399200.2_Splice_Site_p.D280G|RUFY2_ENST00000602465.1_Splice_Site_p.D314G|RUFY2_ENST00000472394.2_5'UTR	NM_017987.4	NP_060457.4	Q8WXA3	RUFY2_HUMAN	RUN and FYVE domain containing 2	363						nucleus	metal ion binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(2)	20						ATTCTCTACATCCTGCAATTT	0.358													C	70141155	T	C	70141155	5	2	369	1	0	0	0	0	0	0	1	0	13830	1449	50	3	1024	3	RUFY2	10	70141155	Splice_Site	SNP	T	TCGA-DU-6397-01A-11D-1705-08		70141155	65393592	21	39352											
NOP2	4839	broad.mit.edu	37	chr12	6675419	6675419	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctcatcactgccaggtgCtgggcgcttcttgcctcgag	4	12	11	14	2	3	0	2	0	1	0	5	1	4	0	3	2	3	2	3	2	0	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:6675419C>A	ENST00000541778.1	-	5	798	c.310G>T	c.(310-312)Gca>Tca	p.A104S	NOP2_ENST00000322166.5_Missense_Mutation_p.A108S|NOP2_ENST00000545200.1_Missense_Mutation_p.A104S|NOP2_ENST00000537442.1_Missense_Mutation_p.A108S|NOP2_ENST00000399466.2_Missense_Mutation_p.A104S|NOP2_ENST00000542015.1_Intron|NOP2_ENST00000382421.3_Missense_Mutation_p.A108S			P46087	NOP2_HUMAN	NOP2 nucleolar protein	108					positive regulation of cell proliferation|rRNA processing	nucleolus	protein binding|RNA binding|S-adenosylmethionine-dependent methyltransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	19						CTGCCAGGTGCTGGGCGCTTC	0.557													A	6675419	C	A	6675419	3	1	369	1	0	0	0	0	1	0	0	0	10614	797	28	4	2164	4	NOP2	12	6675419	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		6675419	127176476	22	39353											
KRT3	3850	broad.mit.edu	37	chr12	53187894	53187896	+	Splice_Site	DEL	CTT	CTT	-																															cactcctgccctgtcactcaCttcttcttgaagtcttccac																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr12:53187894_53187896delCTT	ENST00000417996.2	-	2	939_941	c.865_867delAAG	c.(865-867)aagdel	p.K289del	KRT3_ENST00000309505.3_Splice_Site_p.K289del	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	289	Coil 1B.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						CTGTCACTCACTTCTTCTTGAAG	0.591													-	53187896	CTT	-	53187894	8	5	369	1	0	1	0	1	0	0	1	0	8524	579	20	0	1051	0	KRT3	12	53187894	Splice_Site	DEL	CTT	TCGA-DU-6397-01A-11D-1705-08	46512475	53187894	80664001	23	39354											
OR4M1	441670	broad.mit.edu	37	chr14	20248557	20248557	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcgggaggtccaactaGtcctatttgttatatttcta	10	15	8	8	1	1	1	0	0	1	1	4	2	3	2	2	2	1	1	2	2	6	7			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:20248557G>T	ENST00000315957.4	+	1	157	c.76G>T	c.(76-78)Gtc>Ttc	p.V26F		NM_001005500.1	NP_001005500.1	Q8NGD0	OR4M1_HUMAN	olfactory receptor, family 4, subfamily M, member 1	26					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(32)|prostate(1)|skin(2)	42	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGTCCAACTAGTCCTATTTGT	0.388													T	20248557	G	T	20248557	3	4	369	1	0	0	0	0	1	0	0	0	11151	1029	36	4	78	4	OR4M1	14	20248557	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08		20248557	87100983	24	39355											
FUT8	2530	broad.mit.edu	37	chr14	66136042	66136042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctgtcagctccatcatGtggtctactgcttcatgatt	7	15	9	10	0	4	1	3	1	1	0	5	1	5	1	1	2	3	3	1	2	1	3			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:66136042G>A	ENST00000360689.5	+	7	2406	c.679G>A	c.(679-681)Gtg>Atg	p.V227M	FUT8_ENST00000394585.1_Missense_Mutation_p.V227M|FUT8_ENST00000358307.2_Missense_Mutation_p.V98M|FUT8_ENST00000554765.1_3'UTR|FUT8_ENST00000557164.1_Missense_Mutation_p.V64M|FUT8_ENST00000394586.2_Missense_Mutation_p.V227M	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	227					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		GCTCCATCATGTGGTCTACTG	0.473													A	66136042	G	A	66136042	3	1	369	1	0	0	0	0	1	0	0	0	6162	1377	48	2	796	2	FUT8	14	66136042	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	45887485	66136042	41213498	25	39356											
DDX24	57062	broad.mit.edu	37	chr14	94528925	94528925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttctgccactgcaacaccGcatgaatcattgggatggca	10	10	9	12	1	3	1	1	1	2	0	3	2	3	2	2	2	3	3	2	2	2	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr14:94528925G>A	ENST00000330836.5	-	3	892	c.761C>T	c.(760-762)gCg>gTg	p.A254V	DDX24_ENST00000544005.1_Missense_Mutation_p.A4V|DDX24_ENST00000555054.1_Missense_Mutation_p.A211V	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	254	Helicase ATP-binding.				RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		CTGCAACACCGCATGAATCAT	0.458													A	94528925	G	A	94528925	3	1	369	1	0	0	0	0	1	0	0	0	4385	1087	38	1	1846	1	DDX24	14	94528925	Missense_Mutation	SNP	G	TCGA-DU-6397-01A-11D-1705-08	28392883	94528925	12820615	26	39357											
IQGAP1	8826	broad.mit.edu	37	chr15	91030731	91030731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccatctcgtttcagtacaAaacgtttaattgtggatgtc	10	14	7	10	2	2	0	1	0	1	0	4	1	2	1	2	1	2	3	2	1	4	5			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr15:91030731A>G	ENST00000268182.5	+	33	4289	c.4165A>G	c.(4165-4167)Aaa>Gaa	p.K1389E	IQGAP1_ENST00000560738.1_Missense_Mutation_p.K817E	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1389	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			TTTCAGTACAAAACGTTTAAT	0.463													G	91030731	A	G	91030731	3	3	369	1	0	0	0	0	1	0	0	0	7872	15	1	3	4295	3	IQGAP1	15	91030731	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08		91030731	11500661	27	39358											
PTX4	390667	broad.mit.edu	37	chr16	1537926	1537926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacgttgtagttgctggCgatgttctgcaggtgtgtcc	5	13	15	8	2	1	0	0	0	1	0	2	2	2	1	1	3	2	6	1	3	1	4	rs150305846	byFrequency	TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr16:1537926C>T	ENST00000447419.2	-	2	212	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	PTX4_ENST00000293922.1_Missense_Mutation_p.A58T|PTX4_ENST00000440447.2_Missense_Mutation_p.A63T			Q96A99	PTX4_HUMAN	pentraxin 4, long	63						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						TAGTTGCTGGCGATGTTCTGC	0.647													T	1537926	C	T	1537926	3	4	369	1	0	0	0	0	1	0	0	0	12911	768	27	1	1256	1	PTX4	16	1537926	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		1537926	88816827	28	39359											
FBXW10	10517	broad.mit.edu	37	chr17	18653309	18653310	+	Frame_Shift_Ins	INS	-	-	T																															ctggggtttctgggtccatcINStttttttttccaggaatgct																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:18653309_18653310insT	ENST00000308799.4	+	3	1164_1165	c.945_946insT	c.(946-948)tttfs	p.F316fs	FBXW10_ENST00000301938.4_Intron|FBXW10_ENST00000395665.4_Intron|FBXW10_ENST00000395667.1_Intron			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	293	F-box.									NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						CTGGGTCCATCTTTTTTTTTCC	0.535													T	18653310	-	T	18653309	7	5	369	1	0	1	1	0	0	0	0	0	5812	928	32	0		0	FBXW10	17	18653309	Frame_Shift_Ins	INS	-	TCGA-DU-6397-01A-11D-1705-08		18653309	62541901	29	39360											
NF1	4763	broad.mit.edu	37	chr17	29663350	29663350	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttattttccttcttcaactaGattacagatctgcttgatgt	9	19	5	8	0	3	3	1	1	2	2	4	3	4	3	1	0	3	1	1	0	4	8			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:29663350G>C	ENST00000358273.4	+	41	6389		c.e41-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TCTTCAACTAGATTACAGATC	0.328			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29663350	G	C	29663350	5	2	369	1	0	0	0	0	0	0	1	0	10432	956	33	4	6229	4	NF1	17	29663350	Splice_Site	SNP	G	TCGA-DU-6397-01A-11D-1705-08	11010041	29663350	51531860	30	39361											
CACNA1G	8913	broad.mit.edu	37	chr17	48703623	48703623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagagaccagaagcagcttAgagttggacacggagctgag	13	5	14	9	1	0	4	0	1	0	3	0	7	0	6	2	2	3	4	2	2	2	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:48703623A>G	ENST00000352832.5	+	34	6636	c.6264A>G	c.(6262-6264)ttA>ttG	p.L2088L	CACNA1G_ENST00000354983.4_Silent_p.L2181L|CACNA1G_ENST00000507896.1_Intron|CACNA1G_ENST00000507609.1_Silent_p.L2115L|CACNA1G_ENST00000507510.2_Silent_p.L2170L|CACNA1G_ENST00000510115.1_Silent_p.L2136L|CACNA1G_ENST00000360761.4_Silent_p.L2099L|CACNA1G_ENST00000513689.2_Silent_p.L2125L|CACNA1G_ENST00000503485.1_Silent_p.L2088L|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000514079.1_Silent_p.L2129L|CACNA1G_ENST00000510366.1_Silent_p.L2070L|CACNA1G_ENST00000515411.1_Silent_p.L2152L|CACNA1G_ENST00000514717.1_Silent_p.L2065L|CACNA1G_ENST00000515765.1_Silent_p.L2159L|CACNA1G_ENST00000512389.1_Silent_p.L2111L|CACNA1G_ENST00000507336.1_Silent_p.L2204L|CACNA1G_ENST00000513964.1_Silent_p.L2077L|CACNA1G_ENST00000429973.2_Silent_p.L2104L|CACNA1G_ENST00000514181.1_Silent_p.L2097L|CACNA1G_ENST00000359106.5_Silent_p.L2215L|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000502264.1_Silent_p.L2144L|CACNA1G_ENST00000515165.1_Silent_p.L2122L|CACNA1G_ENST00000442258.2_Silent_p.L2081L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2215					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	GAAGCAGCTTAGAGTTGGACA	0.642											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	48703623	A	G	48703623	2	3	369	1	0	0	0	0	0	0	0	1	2570	417	15	3		3	CACNA1G	17	48703623	Silent	SNP	A	TCGA-DU-6397-01A-11D-1705-08	19040273	48703623	32491587	31	39362											
SSTR2	6752	broad.mit.edu	37	chr17	71166516	71166516	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaatcccggctgaatgagaCcacggagacccagaggaccc	13	3	11	14	2	0	4	0	2	0	3	1	7	1	5	4	3	0	1	4	3	2	0			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:71166516C>G	ENST00000357585.2	+	2	1427	c.1058C>G	c.(1057-1059)aCc>aGc	p.T353S	SSTR2_ENST00000315332.2_Intron|RP11-143K11.5_ENST00000580671.1_RNA	NM_001050.2	NP_001041.1	P30874	SSR2_HUMAN	somatostatin receptor 2	353					digestion|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	PDZ domain binding|somatostatin receptor activity			endometrium(2)|large_intestine(5)|lung(2)|prostate(2)	11			LUSC - Lung squamous cell carcinoma(166;0.197)			CTGAATGAGACCACGGAGACC	0.547													G	71166516	C	G	71166516	3	3	369	1	0	0	0	0	1	0	0	0	15294	507	18	4	1060	4	SSTR2	17	71166516	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08	22462893	71166516	10028694	32	39363											
C17orf62	79415	broad.mit.edu	37	chr17	80402421	80402423	+	In_Frame_Del	DEL	CTC	CTC	-																															ttcccgaagtaccggaccttCtcctcctccacgctcacatc																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr17:80402421_80402423delCTC	ENST00000437807.2	-	7	660_662	c.343_345delGAG	c.(343-345)gagdel	p.E115del	C17orf62_ENST00000577436.1_In_Frame_Del_p.E101del|C17orf62_ENST00000336995.7_5'UTR|C17orf62_ENST00000583617.1_In_Frame_Del_p.E115del|C17orf62_ENST00000578919.1_In_Frame_Del_p.E115del|C17orf62_ENST00000577732.1_In_Frame_Del_p.E115del|C17orf62_ENST00000585080.1_In_Frame_Del_p.E115del|C17orf62_ENST00000306645.5_In_Frame_Del_p.E115del|C17orf62_ENST00000578913.1_In_Frame_Del_p.E115del|C17orf62_ENST00000434650.2_In_Frame_Del_p.E101del|C17orf62_ENST00000585064.1_In_Frame_Del_p.E115del|C17orf62_ENST00000342572.8_5'UTR	NM_001193653.1|NM_001193657.1	NP_001180582.1|NP_001180586.1	Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62	115						integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			ACCGGACCTTCTCCTCCTCCACG	0.655													-	80402423	CTC	-	80402421	7	5	369	1	0	1	0	1	0	0	0	0	1886	912	32	0	226	0	C17orf62	17	80402421	In_Frame_Del	DEL	CTC	TCGA-DU-6397-01A-11D-1705-08	9235905	80402421	792789	33	39364											
LAMA3	3909	broad.mit.edu	37	chr18	21474271	21474271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgattttagactgcataaAccaagaacccaaagatagca	17	9	6	9	0	1	4	0	1	1	3	1	4	1	4	2	0	4	2	2	0	7	4			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:21474271A>T	ENST00000313654.9	+	43	5661	c.5420A>T	c.(5419-5421)aAc>aTc	p.N1807I	LAMA3_ENST00000269217.6_Missense_Mutation_p.N198I|LAMA3_ENST00000587184.1_Missense_Mutation_p.N198I|LAMA3_ENST00000399516.3_Missense_Mutation_p.N1807I	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1807	Domain III A.|Laminin EGF-like 15; truncated.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GACTGCATAAACCAAGAACCC	0.378													T	21474271	A	T	21474271	3	4	369	1	0	0	0	0	1	0	0	0	8666	43	2	5	5765	5	LAMA3	18	21474271	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08		21474271	56602977	34	39365											
SS18	6760	broad.mit.edu	37	chr18	23632625	23632626	+	Frame_Shift_Del	DEL	AT	AT	-																															ctcatatttggtctgggaccAtagtttcccattggttgtcc																										TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr18:23632625_23632626delAT	ENST00000415083.2	-	5	624_625	c.569_570delAT	c.(568-570)tatfs	p.Y190fs	SS18_ENST00000539849.1_Frame_Shift_Del_p.Y108fs|SS18_ENST00000542743.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000542420.2_Frame_Shift_Del_p.Y167fs|SS18_ENST00000545952.1_Frame_Shift_Del_p.Y138fs|SS18_ENST00000269137.7_Frame_Shift_Del_p.Y190fs|SS18_ENST00000585241.1_5'UTR	NM_001007559.1|NM_005637.2	NP_001007560.1|NP_005628.2	Q15532	SSXT_HUMAN	synovial sarcoma translocation, chromosome 18	190	Gln-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding		SS18/SSX2(706)|SS18/SSX1(1169)|SS18/SSX4(12)	endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(1)	19	all_cancers(21;0.000194)|Lung NSC(5;0.000413)|all_lung(6;0.00118)|Ovarian(20;0.124)					GTCTGGGACCATAGTTTCCCAT	0.426			T	"SSX1,  SSX2"	synovial sarcoma								-	23632626	AT	-	23632625	7	5	369	1	0	1	0	1	0	0	0	0	15271	224	8	0	714	0	SS18	18	23632625	Frame_Shift_Del	DEL	AT	TCGA-DU-6397-01A-11D-1705-08	2158354	23632625	54444623	35	39366											
VAV1	7409	broad.mit.edu	37	chr19	6833209	6833209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagctccaacatctatcCggagaatgccaccgccaacg	11	6	8	16	3	1	1	0	0	1	1	3	2	3	1	6	1	5	1	6	1	4	1			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:6833209C>T	ENST00000304076.2	+	16	1617	c.1523C>T	c.(1522-1524)cCg>cTg	p.P508L	VAV1_ENST00000596764.1_Missense_Mutation_p.P476L|VAV1_ENST00000539284.1_Missense_Mutation_p.P411L|VAV1_ENST00000599806.1_Missense_Mutation_p.P453L|VAV1_ENST00000602142.1_Missense_Mutation_p.P508L	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	508					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						AACATCTATCCGGAGAATGCC	0.438													T	6833209	C	T	6833209	3	4	369	1	0	0	0	0	1	0	0	0	17233	652	23	1	1585	1	VAV1	19	6833209	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		6833209	52295774	36	39367											
FXYD7	53822	broad.mit.edu	37	chr19	35642241	35642241	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcatcagtaagtgcgAcccattcctgggctgcctca	8	10	9	14	2	3	0	3	0	0	0	5	1	4	0	3	1	2	2	3	1	1	2			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr19:35642241A>G	ENST00000588265.1	+	3	201	c.146A>G	c.(145-147)gAc>gGc	p.D49G	FXYD7_ENST00000586063.1_Intron|FXYD7_ENST00000270310.2_Intron			P58549	FXYD7_HUMAN	FXYD domain containing ion transport regulator 7	46						integral to membrane	ion channel activity			NS(1)|endometrium(1)|lung(1)	3	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;2.32e-21)|OV - Ovarian serous cystadenocarcinoma(14;3.17e-20)|all cancers(14;2.43e-18)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AGTAAGTGCGACCCATTCCTG	0.532													G	35642241	A	G	35642241	3	3	369	1	0	0	0	0	1	0	0	0	6175	290	10	3		3	FXYD7	19	35642241	Missense_Mutation	SNP	A	TCGA-DU-6397-01A-11D-1705-08	28809032	35642241	23486742	37	39368											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46020984	46020984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcttgctgcacctcctccCcctgccagcaggcctgctgt	4	9	9	19	0	0	0	0	0	0	0	2	0	2	0	6	1	6	5	6	1	0	1			TCGA-DU-6397-01A-11D-1705-08	TCGA-DU-6397-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	678aeec7-2b41-46fc-b4c9-0c9f6b2018bb	60cfef6e-ae32-4680-83e6-f969464d5805	g.chr21:46020984C>T	ENST00000380102.2	+	1	488	c.463C>T	c.(463-465)Ccc>Tcc	p.P155S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	155	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CACCTCCTCCCCCTGCCAGCA	0.592													T	46020984	C	T	46020984	3	4	369	1	0	0	0	0	1	0	0	0	8572	623	22	2	454	2	KRTAP10-7	21	46020984	Missense_Mutation	SNP	C	TCGA-DU-6397-01A-11D-1705-08		46020984	2108911	38	39369											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17950915	17950915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggtgctagatgtgtacagtGactacgtgaacaacttcacc	11	11	10	9	1	1	3	1	2	0	1	1	3	1	3	1	1	5	2	1	1	5	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:17950915G>A	ENST00000361221.3	+	13	1393	c.1234G>A	c.(1234-1236)Gac>Aac	p.D412N	ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.D412N|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.D190N|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.D373N|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.D170N|ARHGEF10L_ENST00000167825.4_Intron	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	412	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		TGTGTACAGTGACTACGTGAA	0.557													A	17950915	G	A	17950915	3	1	370	1	0	0	0	0	1	0	0	0	898	1290	45	2	1280	2	ARHGEF10L	1	17950915	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		17950915	231299706	1	39370											
ZMPSTE24	10269	broad.mit.edu	37	chr1	40758165	40758165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgcagatttgagtttcaaGctgatgcatttgccaagaaa	12	11	10	8	1	1	4	1	2	0	2	1	4	1	4	2	0	3	4	2	0	3	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:40758165G>A	ENST00000372759.3	+	10	1417	c.1252G>A	c.(1252-1254)Gct>Act	p.A418T		NM_005857.4	NP_005848.2	O75844	FACE1_HUMAN	zinc metallopeptidase STE24	418						endoplasmic reticulum membrane|Golgi membrane|integral to membrane	metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	16	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;6.3e-18)			TGAGTTTCAAGCTGATGCATT	0.388													A	40758165	G	A	40758165	3	1	370	1	0	0	0	0	1	0	0	0	17799	971	34	2	1290	2	ZMPSTE24	1	40758165	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	22807250	40758165	208492456	2	39371											
MAST2	23139	broad.mit.edu	37	chr1	46474027	46474027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgatgaatcatgtttacaAagaaagattcccaaaggtaa	19	10	7	5	0	1	4	1	2	0	2	2	4	2	4	1	1	1	2	1	1	7	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:46474027A>G	ENST00000361297.2	+	9	1245	c.962A>G	c.(961-963)aAa>aGa	p.K321R	MAST2_ENST00000372009.2_Missense_Mutation_p.K321R	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	321					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CATGTTTACAAAGAAAGATTC	0.433													G	46474027	A	G	46474027	3	3	370	1	0	0	0	0	1	0	0	0	9400	14	1	3	996	3	MAST2	1	46474027	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	5715862	46474027	202776594	3	39372											
LRRIQ3	127255	broad.mit.edu	37	chr1	74507115	74507115	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttagaaacagagctttTctctctctagctttttcaag	9	18	5	9	0	4	2	1	0	3	2	6	2	4	2	0	0	3	2	0	0	4	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:74507115T>C	ENST00000354431.4	-	7	1691	c.1500A>G	c.(1498-1500)agA>agG	p.R500R	LRRIQ3_ENST00000395089.1_Silent_p.R500R	NM_001105659.1	NP_001099129.1	A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	500										NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						ACAGAGCTTTTCTCTCTCTAG	0.338													C	74507115	T	C	74507115	2	2	370	1	0	0	0	0	0	0	0	1	9100	1780	62	3		3	LRRIQ3	1	74507115	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	28033088	74507115	174743506	4	39373											
NTNG1	22854	broad.mit.edu	37	chr1	107973470	107973470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacactagagggcagcacTgtgagttatgcaggctgggc	11	7	14	9	0	0	2	0	1	0	1	0	2	0	2	0	3	3	5	0	3	3	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:107973470T>C	ENST00000370068.1	+	6	2032	c.1186T>C	c.(1186-1188)Tgt>Cgt	p.C396R	NTNG1_ENST00000370065.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370074.4_Intron|NTNG1_ENST00000370067.1_Intron|NTNG1_ENST00000370072.3_Missense_Mutation_p.C396R|NTNG1_ENST00000370061.3_Intron|NTNG1_ENST00000542803.1_Missense_Mutation_p.C396R|NTNG1_ENST00000370073.2_Missense_Mutation_p.C396R|NTNG1_ENST00000370070.2_Intron|NTNG1_ENST00000370066.1_Intron|NTNG1_ENST00000370071.2_Intron			Q9Y2I2	NTNG1_HUMAN	netrin G1	396	Laminin EGF-like 2.				axonogenesis	anchored to plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|soft_tissue(1)|urinary_tract(1)	37		all_epithelial(167;1.39e-05)|all_lung(203;0.000115)|Lung NSC(277;0.000238)|Breast(1374;0.243)		Lung(183;0.0946)|BRCA - Breast invasive adenocarcinoma(282;0.237)|Epithelial(280;0.245)		AGGGCAGCACTGTGAGTTATG	0.443													C	107973470	T	C	107973470	3	2	370	1	0	0	0	0	1	0	0	0	10780	1580	55	3	1338	3	NTNG1	1	107973470	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	33466355	107973470	141277151	5	39374											
LMX1A	4009	broad.mit.edu	37	chr1	165183011	165183011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctttccctgccccaTgggctgacttgcagagactt	6	12	9	14	0	0	2	0	1	0	1	2	3	2	2	4	1	2	3	4	1	0	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165183011T>C	ENST00000342310.3	-	5	918	c.536A>G	c.(535-537)cAt>cGt	p.H179R	LMX1A_ENST00000367893.4_Missense_Mutation_p.H179R|LMX1A_ENST00000294816.2_Missense_Mutation_p.H179R	NM_177398.3	NP_796372.1	Q8TE12	LMX1A_HUMAN	LIM homeobox transcription factor 1, alpha	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|central_nervous_system(3)|cervix(2)|endometrium(4)|large_intestine(6)|lung(10)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(4)	35	all_hematologic(923;0.248)					CCCTGCCCCATGGGCTGACTT	0.498													C	165183011	T	C	165183011	3	2	370	1	0	0	0	0	1	0	0	0	8922	1464	51	3	632	3	LMX1A	1	165183011	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	57209541	165183011	84067610	6	39375											
RXRG	6258	broad.mit.edu	37	chr1	165386373	165386373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcagtctttattatccCgacacgtgtagatgaggtcc	9	12	11	9	2	1	3	0	2	1	1	3	4	3	3	2	2	0	2	2	2	3	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:165386373C>T	ENST00000359842.5	-	4	829	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	176					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	TTTATTATCCCGACACGTGTA	0.498													T	165386373	C	T	165386373	3	4	370	1	0	0	0	0	1	0	0	0	13856	652	23	1	892	1	RXRG	1	165386373	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	203362	165386373	83864248	7	39376											
TOR1AIP2	163590	broad.mit.edu	37	chr1	179815253	179815253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctactcactggctggactgGcagtaccaggtgtgaaattc	9	10	12	10	0	1	1	1	1	0	0	2	2	1	2	1	4	2	4	1	4	3	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:179815253G>A	ENST00000367612.3	-	6	1753	c.1366C>T	c.(1366-1368)Cca>Tca	p.P456S	TOR1AIP2_ENST00000609928.1_Missense_Mutation_p.P456S	NM_145034.4	NP_659471.1	Q8NFQ8	TOIP2_HUMAN	torsin A interacting protein 2	456						endoplasmic reticulum membrane|integral to membrane	protein binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(10)|ovary(1)|skin(2)	18						GGCTGGACTGGCAGTACCAGG	0.463													A	179815253	G	A	179815253	3	1	370	1	0	0	0	0	1	0	0	0	16474	1203	42	2	50	2	TOR1AIP2	1	179815253	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	14428880	179815253	69435368	8	39377											
HMCN1	83872	broad.mit.edu	37	chr1	185951454	185951454	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattgaaggacagcagcttaCtttgccctgtactctgttag	9	14	9	9	0	1	1	0	1	1	0	1	2	1	2	1	1	5	4	1	1	5	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr1:185951454C>T	ENST00000271588.4	+	18	2952	c.2723C>T	c.(2722-2724)aCt>aTt	p.T908I	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.T908I	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	908	Ig-like C2-type 6.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CAGCAGCTTACTTTGCCCTGT	0.418													T	185951454	C	T	185951454	3	4	370	1	0	0	0	0	1	0	0	0	7275	565	20	2	2793	2	HMCN1	1	185951454	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	6136201	185951454	63299167	9	39378											
THSD7B	80731	broad.mit.edu	37	chr2	138320879	138320879	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaaaatcaacaatgagcTgaggtccctgcgctgtggag	12	8	12	9	1	1	2	1	2	0	0	2	3	2	3	1	2	4	3	1	2	4	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:138320879T>A	ENST00000409968.1	+	16	3405	c.3227T>A	c.(3226-3228)cTg>cAg	p.L1076Q	THSD7B_ENST00000543459.1_Intron|THSD7B_ENST00000272643.3_Missense_Mutation_p.L1079Q|THSD7B_ENST00000413152.2_Missense_Mutation_p.L1048Q					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		AACAATGAGCTGAGGTCCCTG	0.443													A	138320879	T	A	138320879	3	1	370	1	0	0	0	0	1	0	0	0	15980	1580	55	5	3197	5	THSD7B	2	138320879	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08		138320879	104878494	10	39379											
SCN7A	6332	broad.mit.edu	37	chr2	167298214	167298214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagttactaagagaccacaTcaaaatctggaatgttggcc	14	10	9	8	0	2	2	1	1	1	1	2	4	2	3	2	2	1	2	2	2	5	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:167298214T>C	ENST00000409855.1	-	14	1975	c.1849A>G	c.(1849-1851)Atg>Gtg	p.M617V		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	617					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						AGAGACCACATCAAAATCTGG	0.383													C	167298214	T	C	167298214	3	2	370	1	0	0	0	0	1	0	0	0	14016	1435	50	3	3247	3	SCN7A	2	167298214	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	28977335	167298214	75901159	11	39380											
COL3A1	1281	broad.mit.edu	37	chr2	189867065	189867065	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctccaggacctgctggtttCcctggtgctcctgtaagtgt	4	13	11	13	0	0	0	0	0	0	0	3	1	3	1	5	3	2	4	5	3	1	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:189867065C>T	ENST00000304636.3	+	35	2603	c.2433C>T	c.(2431-2433)ttC>ttT	p.F811F	COL3A1_ENST00000317840.5_Silent_p.F811F	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	811	Triple-helical region.				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	CTGCTGGTTTCCCTGGTGCTC	0.438													T	189867065	C	T	189867065	2	4	370	1	0	0	0	0	0	0	0	1	3719	854	30	2		2	COL3A1	2	189867065	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	22568851	189867065	53332308	12	39381											
NEU2	4759	broad.mit.edu	37	chr2	233899633	233899633	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctgtgcctactcagacCtccagagcatgggcaccggc	8	6	12	15	1	1	2	1	0	0	2	2	2	2	2	4	2	4	4	4	2	1	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr2:233899633C>A	ENST00000233840.3	+	2	1009	c.1009C>A	c.(1009-1011)Ctc>Atc	p.L337I		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	337							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CTACTCAGACCTCCAGAGCAT	0.607													A	233899633	C	A	233899633	3	1	370	1	0	0	0	0	1	0	0	0	10418	681	24	4	1015	4	NEU2	2	233899633	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	44032568	233899633	9299740	13	39382											
PPARG	5468	broad.mit.edu	37	chr3	12458613	12458613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcactggaattagatgacagCgacttggcaatatttattgc	12	12	10	7	1	0	2	0	1	0	1	0	4	0	3	0	2	2	2	0	2	5	6	rs148844673		TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:12458613C>T	ENST00000397026.2	+	8	1547	c.1164C>T	c.(1162-1164)agC>agT	p.S388S	PPARG_ENST00000397010.2_Silent_p.S382S|PPARG_ENST00000309576.6_Silent_p.S382S|PPARG_ENST00000397000.1_Intron|PPARG_ENST00000287820.6_Silent_p.S410S|PPARG_ENST00000397015.2_Silent_p.S382S|PPARG_ENST00000539812.1_Intron|PPARG_ENST00000397012.2_Silent_p.S382S			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	410	Ligand-binding.		F -> L (in FPLD3).		activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	TAGATGACAGCGACTTGGCAA	0.428			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						T	12458613	C	T	12458613	2	4	370	1	0	0	0	0	0	0	0	1	12376	767	27	1		1	PPARG	3	12458613	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		12458613	185563817	14	39383											
TFRC	7037	broad.mit.edu	37	chr3	195800987	195800987	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaatagcccaagtagccaAtcataaatcctaaagagaca	19	7	5	10	0	1	1	1	0	0	1	2	2	2	1	3	0	3	1	3	0	10	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr3:195800987A>G	ENST00000360110.4	-	4	417	c.248T>C	c.(247-249)aTt>aCt	p.I83T	TFRC_ENST00000535031.1_Intron|TFRC_ENST00000540528.1_3'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.I83T|TFRC_ENST00000420415.1_Missense_Mutation_p.I2T	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	83					cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CAAGTAGCCAATCATAAATCC	0.423			T	BCL6	NHL								G	195800987	A	G	195800987	3	3	370	1	0	0	0	0	1	0	0	0	15912	101	4	3	2098	3	TFRC	3	195800987	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	183342374	195800987	2221443	15	39384											
GPR125	166647	broad.mit.edu	37	chr4	22436987	22436987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaatttttcaatcatttctgCcacaaatataacatccattt	15	16	1	9	0	3	0	2	0	1	0	4	0	4	0	2	0	2	0	2	0	5	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr4:22436987C>T	ENST00000334304.5	-	10	1659	c.1390G>A	c.(1390-1392)Gca>Aca	p.A464T	GPR125_ENST00000502482.1_Missense_Mutation_p.A464T|GPR125_ENST00000508133.1_Missense_Mutation_p.A238T|GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	464					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				ATCATTTCTGCCACAAATATA	0.393													T	22436987	C	T	22436987	3	4	370	1	0	0	0	0	1	0	0	0	6693	739	26	2	2615	2	GPR125	4	22436987	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		22436987	168717289	16	39385											
C6orf222	389384	broad.mit.edu	37	chr6	36290199	36290199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcgggcaggggctcccGgcactcgagatcttctggat	5	10	14	12	3	3	1	0	0	3	1	5	3	4	2	1	5	1	3	1	5	0	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:36290199G>A	ENST00000437635.2	-	9	1669	c.1492C>T	c.(1492-1494)Cgg>Tgg	p.R498W		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	498										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						AGGGGCTCCCGGCACTCGAGA	0.567													A	36290199	G	A	36290199	3	1	370	1	0	0	0	0	1	0	0	0	2378	1115	39	1	482	1	C6orf222	6	36290199	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		36290199	134824868	17	39386											
TMEM63B	55362	broad.mit.edu	37	chr6	44116117	44116117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacaatgagactatcacCgccatgtgagtccccaactc	11	9	6	15	1	1	2	1	2	0	1	4	3	3	2	5	0	1	0	5	0	3	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:44116117C>T	ENST00000259746.9	+	13	1299	c.1116C>T	c.(1114-1116)acC>acT	p.T372T	TMEM63B_ENST00000323267.6_Silent_p.T372T			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	372						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			AGACTATCACCGCCATGTGAG	0.592													T	44116117	C	T	44116117	2	4	370	1	0	0	0	0	0	0	0	1	16291	639	23	1		1	TMEM63B	6	44116117	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	7825918	44116117	126998950	18	39387											
HCRTR2	3062	broad.mit.edu	37	chr6	55147128	55147128	+	Frame_Shift_Del	DEL	G	G	-																															acgaactagcacagagagccGgaagtccttgaccactcaaa																										TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:55147128delG	ENST00000370862.3	+	7	1547	c.1211delG	c.(1210-1212)cggfs	p.R404fs		NM_001526.3	NP_001517.2	O43614	OX2R_HUMAN	hypocretin (orexin) receptor 2	404					feeding behavior	integral to plasma membrane	neuropeptide receptor activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	46	Lung NSC(77;0.107)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			ACAGAGAGCCGGAAGTCCTTG	0.483													-	55147128	G	-	55147128	7	5	370	1	0	1	0	1	0	0	0	0	7057	1116	39	0	1237	0	HCRTR2	6	55147128	Frame_Shift_Del	DEL	G	TCGA-DU-6399-01A-12D-1705-08	11031011	55147128	115967939	19	39388											
FILIP1	27145	broad.mit.edu	37	chr6	76124523	76124523	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtttttaggtgtcgttTgacagttcctgaggccatga	8	15	12	6	1	0	4	0	3	0	1	2	4	1	4	2	2	0	3	2	2	1	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:76124523T>C	ENST00000393004.2	-	2	387	c.166A>G	c.(166-168)Aaa>Gaa	p.K56E	FILIP1_ENST00000237172.7_Missense_Mutation_p.K56E			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	56										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						AGGTGTCGTTTGACAGTTCCT	0.403													C	76124523	T	C	76124523	3	2	370	1	0	0	0	0	1	0	0	0	5943	1821	63	3	3495	3	FILIP1	6	76124523	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	20977395	76124523	94990544	20	39389											
ZNF292	23036	broad.mit.edu	37	chr6	87966561	87966561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaagacattagaaagtattGcatttgttccaccgcagtcc	12	13	7	9	1	0	2	0	0	0	2	2	2	2	2	3	0	1	4	3	0	4	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:87966561G>C	ENST00000369577.3	+	8	3257	c.3214G>C	c.(3214-3216)Gca>Cca	p.A1072P	ZNF292_ENST00000339907.4_Missense_Mutation_p.A1067P	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1072					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAAAGTATTGCATTTGTTCC	0.373													C	87966561	G	C	87966561	3	2	370	1	0	0	0	0	1	0	0	0	17927	1319	46	4	3244	4	ZNF292	6	87966561	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	11842038	87966561	83148506	21	39390											
FRK	2444	broad.mit.edu	37	chr6	116381413	116381413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgacttgtctgcctccGtggacaaacaggggagatag	9	9	14	9	2	1	2	0	1	1	1	2	4	2	3	2	4	2	1	2	4	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:116381413G>A	ENST00000606080.1	-	1	508	c.62C>T	c.(61-63)aCg>aTg	p.T21M		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	21					negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		GTCTGCCTCCGTGGACAAACA	0.537													A	116381413	G	A	116381413	3	1	370	1	0	0	0	0	1	0	0	0	6100	1145	40	1	1487	1	FRK	6	116381413	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	28414852	116381413	54733654	22	39391											
SLC22A2	6582	broad.mit.edu	37	chr6	160679569	160679569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctgggcccggcaccGtgtagttcagttcctctgca	5	10	12	14	2	2	0	1	0	1	0	4	0	4	0	4	3	1	5	4	3	1	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr6:160679569G>A	ENST00000366952.1	-	3	1639	c.158C>T	c.(157-159)aCg>aTg	p.T53M	SLC22A2_ENST00000366953.3_Missense_Mutation_p.T74M|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	74					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		GCCCGGCACCGTGTAGTTCAG	0.672													A	160679569	G	A	160679569	3	1	370	1	0	0	0	0	1	0	0	0	14545	1145	40	1	1490	1	SLC22A2	6	160679569	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	44298156	160679569	10435498	23	39392											
WIPI2	26100	broad.mit.edu	37	chr7	5270498	5270498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtgctgtgggtggcGcctgcctggaggacgaggcc	4	7	19	11	2	0	0	0	0	0	0	0	3	0	2	4	6	2	1	4	6	0	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:5270498G>A	ENST00000288828.4	+	13	1517	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	WIPI2_ENST00000382384.2_Missense_Mutation_p.A400T|WIPI2_ENST00000484262.1_Missense_Mutation_p.A359T|WIPI2_ENST00000401525.3_Missense_Mutation_p.A411T|WIPI2_ENST00000404704.3_Missense_Mutation_p.A418T	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	429					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		TGTGGGTGGCGCCTGCCTGGA	0.612													A	5270498	G	A	5270498	3	1	370	1	0	0	0	0	1	0	0	0	17473	1087	38	1	1369	1	WIPI2	7	5270498	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		5270498	153868165	24	39393											
ZDHHC4	55146	broad.mit.edu	37	chr7	6624735	6624735	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaacatcaggtacttcctCatctacgtcttgaccttgac	9	13	7	12	1	4	2	2	2	2	0	5	3	5	3	2	2	3	1	2	2	3	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:6624735C>T	ENST00000396706.2	+	7	1028	c.585C>T	c.(583-585)ctC>ctT	p.L195L	AC079742.4_ENST00000434951.1_RNA|ZDHHC4_ENST00000396709.1_Silent_p.L195L|ZDHHC4_ENST00000405731.3_Silent_p.L195L|ZDHHC4_ENST00000396707.2_Silent_p.L195L|ZDHHC4_ENST00000335965.6_Silent_p.L195L|ZDHHC4_ENST00000396713.2_Silent_p.L195L			Q9NPG8	ZDHC4_HUMAN	zinc finger, DHHC-type containing 4	195						integral to membrane	acyltransferase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.1)		GGTACTTCCTCATCTACGTCT	0.527													T	6624735	C	T	6624735	2	4	370	1	0	0	0	0	0	0	0	1	17718	813	29	2		2	ZDHHC4	7	6624735	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	1354237	6624735	152513928	25	39394											
COBL	23242	broad.mit.edu	37	chr7	51287614	51287614	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcctttccaggaggTgggggagcacgagccttcat	7	8	16	10	1	1	0	1	0	0	0	2	3	2	2	3	5	3	2	3	5	0	2	rs145775268	by1000genomes	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000265136.7_Silent_p.P23P|COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													G	51287614	T	G	51287614	2	3	370	1	0	0	0	0	0	0	0	1	3684	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	44662879	51287614	107851049	26	39395											
RP1	6101	broad.mit.edu	37	chr8	55541622	55541622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggtacaaaacaaaatgAtgatagcagaatcctcacag	18	7	7	9	0	1	3	1	2	0	1	2	3	2	3	2	1	3	2	2	1	7	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:55541622A>G	ENST00000220676.1	+	4	5328	c.5180A>G	c.(5179-5181)gAt>gGt	p.D1727G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1727					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AAACAAAATGATGATAGCAGA	0.393													G	55541622	A	G	55541622	3	3	370	1	0	0	0	0	1	0	0	0	13623	333	12	3	5190	3	RP1	8	55541622	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08		55541622	90822400	27	39396											
XKR9	389668	broad.mit.edu	37	chr8	71646325	71646325	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tataagtatggaattcttatAtaggattgttgttggattca	12	18	9	2	0	2	0	1	0	1	0	2	3	2	3	0	3	0	3	0	3	7	11			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr8:71646325A>G	ENST00000408926.3	+	5	1322	c.788A>G	c.(787-789)tAt>tGt	p.Y263C	XKR9_ENST00000520030.1_Missense_Mutation_p.Y263C|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	263						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GAATTCTTATATAGGATTGTT	0.289													G	71646325	A	G	71646325	3	3	370	1	0	0	0	0	1	0	0	0	17540	449	16	3	798	3	XKR9	8	71646325	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	16104703	71646325	74717697	28	39397											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508692	37508692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacaacaaaagcaagataaCaattgatattcattttcttg	17	13	5	6	0	2	3	1	2	1	1	2	3	2	3	0	0	3	1	0	0	7	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:37508692C>A	ENST00000374660.1	+	40	4340	c.4241C>A	c.(4240-4242)aCa>aAa	p.T1414K	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T1295K|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T1295K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1351						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AGCAAGATAACAATTGATATT	0.294													A	37508692	C	A	37508692	3	1	370	1	0	0	0	0	1	0	0	0	658	478	17	4	4018	4	ANKRD30A	10	37508692	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		37508692	98026055	29	39398											
OR13A1	79290	broad.mit.edu	37	chr10	45799644	45799644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagtaagaaaaagtacataGgagcgtggagcccagggttg	14	7	15	5	1	0	2	0	1	0	1	0	4	0	4	1	3	3	3	1	3	5	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:45799644G>C	ENST00000553795.1	-	4	535	c.227C>G	c.(226-228)cCt>cGt	p.P76R	OR13A1_ENST00000536058.1_Missense_Mutation_p.P76R|OR13A1_ENST00000374401.2_Missense_Mutation_p.P76R	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						AAAGTACATAGGAGCGTGGAG	0.517													C	45799644	G	C	45799644	3	2	370	1	0	0	0	0	1	0	0	0	11009	1000	35	4	763	4	OR13A1	10	45799644	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	8290952	45799644	89735103	30	39399											
POLR3A	11128	broad.mit.edu	37	chr10	79785906	79785906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatgttggttgtcctggctGtacaggttcttactcacaac	7	14	10	10	0	2	0	1	0	1	0	3	0	3	0	1	3	3	6	1	3	3	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:79785906G>A	ENST00000372371.3	-	2	263	c.126C>T	c.(124-126)taC>taT	p.Y42Y		NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	42					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			TGTCCTGGCTGTACAGGTTCT	0.532													A	79785906	G	A	79785906	2	1	370	1	0	0	0	0	0	0	0	1	12305	1372	48	2		2	POLR3A	10	79785906	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	33986262	79785906	55748841	31	39400											
XPNPEP1	7511	broad.mit.edu	37	chr10	111647887	111647887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattttgtcaacgaggttcTccttgacaggaatgaggtga	11	12	12	6	1	2	4	1	3	1	1	3	6	2	5	1	3	1	1	1	3	2	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr10:111647887T>C	ENST00000369680.4	-	7	691	c.443A>G	c.(442-444)gAg>gGg	p.E148G	XPNPEP1_ENST00000322238.8_Missense_Mutation_p.E191G|XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369683.1_Missense_Mutation_p.E77G|XPNPEP1_ENST00000502935.1_Missense_Mutation_p.E191G	NM_020383.3	NP_065116.3	Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	148					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity			endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		AACGAGGTTCTCCTTGACAGG	0.522													C	111647887	T	C	111647887	3	2	370	1	0	0	0	0	1	0	0	0	17544	1551	54	3	1488	3	XPNPEP1	10	111647887	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	31861981	111647887	23886860	32	39401											
NLRP14	338323	broad.mit.edu	37	chr11	7061017	7061017	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agatcaggaggcagtgctggGtgagtagttaggcctttcat	9	11	15	6	0	2	2	2	1	0	1	2	3	2	3	1	4	1	4	1	4	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:7061017G>A	ENST00000299481.4	+	3	707		c.e3+1			NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14						cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GCAGTGCTGGGTGAGTAGTTA	0.468													A	7061017	G	A	7061017	5	1	370	1	0	0	0	0	0	0	1	0	10552	1275	44	2	368	2	NLRP14	11	7061017	Splice_Site	SNP	G	TCGA-DU-6399-01A-12D-1705-08		7061017	127945499	33	39402											
OR5L1	219437	broad.mit.edu	37	chr11	55579456	55579456	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatccccttctatagatctAatgtgattaaccactttttc	10	16	5	10	0	2	2	0	1	2	1	4	3	3	3	3	1	1	0	3	1	4	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:55579456A>G	ENST00000333973.2	+	1	603	c.514A>G	c.(514-516)Aat>Gat	p.N172D		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				CTATAGATCTAATGTGATTAA	0.458													G	55579456	A	G	55579456	3	3	370	1	0	0	0	0	1	0	0	0	11246	362	13	3	516	3	OR5L1	11	55579456	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	48518439	55579456	79427060	34	39403											
OR9G1	390174	broad.mit.edu	37	chr11	56468711	56468711	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacactgtggtattccccaTgttgaatctcatgatctaca	10	15	6	10	0	2	2	1	2	2	0	4	2	3	2	2	1	2	2	2	1	4	5			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56468711T>G	ENST00000312153.1	+	1	848	c.848T>G	c.(847-849)aTg>aGg	p.M283R		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						GTATTCCCCATGTTGAATCTC	0.388													G	56468711	T	G	56468711	3	3	370	1	0	0	0	0	1	0	0	0	11326	1464	51	5	850	5	OR9G1	11	56468711	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	889255	56468711	78537805	35	39404											
OR9G4	283189	broad.mit.edu	37	chr11	56511045	56511045	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagaaatccaaaaaagaCagattgccaatgaaaaagta	22	6	6	7	0	0	4	0	1	0	3	1	4	1	4	3	0	2	1	3	0	9	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:56511045C>G	ENST00000302957.3	-	1	242	c.243G>C	c.(241-243)ctG>ctC	p.L81L		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	81					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CCAAAAAAGACAGATTGCCAA	0.428													G	56511045	C	G	56511045	2	3	370	1	0	0	0	0	0	0	0	1	11327	465	17	4		4	OR9G4	11	56511045	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	42334	56511045	78495471	36	39405											
RPS6KA4	8986	broad.mit.edu	37	chr11	64137197	64137197	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacgccgacgacacgccCggggccccggtgaaaatcat	9	5	12	15	6	1	1	1	1	0	0	1	3	1	1	4	3	1	1	4	3	3	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:64137197C>T	ENST00000528057.1	+	14	1696	c.1608C>T	c.(1606-1608)ccC>ccT	p.P536P	RPS6KA4_ENST00000294261.4_Intron|RPS6KA4_ENST00000334205.4_Silent_p.P543P	NM_001006944.1	NP_001006945.1	O75676	KS6A4_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 4	543	Protein kinase 2.				axon guidance|histone phosphorylation|interleukin-1-mediated signaling pathway|intracellular protein kinase cascade|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|magnesium ion binding|mitogen-activated protein kinase p38 binding|ribosomal protein S6 kinase activity			breast(1)|endometrium(3)|lung(7)|ovary(1)|prostate(1)	13						ACGACACGCCCGGGGCCCCGG	0.721													T	64137197	C	T	64137197	2	4	370	1	0	0	0	0	0	0	0	1	13744	639	23	1		1	RPS6KA4	11	64137197	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08	7626152	64137197	70869319	37	39406											
SPCS2	9789	broad.mit.edu	37	chr11	74680630	74680630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattttgtgatgatggggaTtctgaccatttatacctcat	9	17	8	7	0	2	3	1	3	1	0	2	4	2	4	2	2	1	0	2	2	3	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:74680630T>C	ENST00000263672.6	+	4	419	c.380T>C	c.(379-381)aTt>aCt	p.I127T	SPCS2_ENST00000526361.1_Intron|SPCS2_ENST00000528265.1_Intron|SPCS2_ENST00000530257.1_Intron	NM_014752.2	NP_055567.2	Q15005	SPCS2_HUMAN	signal peptidase complex subunit 2 homolog (S. cerevisiae)	127					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	integral to membrane|microsome|signal peptidase complex	peptidase activity			breast(1)	1						ATGATGGGGATTCTGACCATT	0.378													C	74680630	T	C	74680630	3	2	370	1	0	0	0	0	1	0	0	0	15120	1493	52	3	394	3	SPCS2	11	74680630	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	10543433	74680630	60325886	38	39407											
RAB38	23682	broad.mit.edu	37	chr11	87883114	87883114	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgtcatgtttccaaatCtttcttgacctgacaccaaa	10	13	4	14	1	3	2	1	2	2	0	5	2	4	2	4	0	0	1	4	0	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr11:87883114C>A	ENST00000243662.6	-	2	294	c.212G>T	c.(211-213)aGa>aTa	p.R71I		NM_022337.2	NP_071732.1	P57729	RAB38_HUMAN	RAB38, member RAS oncogene family	71					protein transport|small GTPase mediated signal transduction	melanosome|plasma membrane	GTP binding|GTPase activity			large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				GTTTCCAAATCTTTCTTGACC	0.383													A	87883114	C	A	87883114	3	1	370	1	0	0	0	0	1	0	0	0	13016	913	32	4	431	4	RAB38	11	87883114	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	13202484	87883114	47123402	39	39408											
GPRC5A	9052	broad.mit.edu	37	chr12	13061477	13061477	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcacagggcccacacgcttCttcctctttgggatcctctt	6	12	8	15	1	3	0	0	0	3	0	5	1	5	1	3	2	1	2	3	2	0	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:13061477C>T	ENST00000014914.5	+	2	1184	c.294C>T	c.(292-294)ttC>ttT	p.F98F	GPRC5A_ENST00000542056.1_Intron	NM_003979.3	NP_003970.1	Q8NFJ5	RAI3_HUMAN	G protein-coupled receptor, family C, group 5, member A	98						cytoplasmic vesicle membrane|Golgi apparatus|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	18		Prostate(47;0.141)		BRCA - Breast invasive adenocarcinoma(232;0.0708)	Tretinoin(DB00755)	CCACACGCTTCTTCCTCTTTG	0.577													T	13061477	C	T	13061477	2	4	370	1	0	0	0	0	0	0	0	1	6779	912	32	2		2	GPRC5A	12	13061477	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		13061477	120790418	40	39409											
ALX1	8092	broad.mit.edu	37	chr12	85677644	85677644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggacagagctcactgaggCcagggtccaggtaggagcca	11	4	16	10	0	1	2	1	1	0	1	2	5	2	4	3	5	2	2	3	5	1	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr12:85677644C>T	ENST00000316824.3	+	2	676	c.521C>T	c.(520-522)gCc>gTc	p.A174V		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	174					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		CTCACTGAGGCCAGGGTCCAG	0.443													T	85677644	C	T	85677644	3	4	370	1	0	0	0	0	1	0	0	0	556	739	26	2	527	2	ALX1	12	85677644	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	72616167	85677644	48174251	41	39410											
POSTN	10631	broad.mit.edu	37	chr13	38153417	38153417	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttaaaatgttagtaacAccaggttcaaatccttttcc	12	15	5	9	0	2	0	1	0	1	0	4	0	4	0	3	1	1	3	3	1	5	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr13:38153417A>G	ENST00000379747.4	-	13	1857	c.1740T>C	c.(1738-1740)ggT>ggC	p.G580G	POSTN_ENST00000379742.4_Silent_p.G580G|POSTN_ENST00000379743.4_Silent_p.G580G|POSTN_ENST00000541179.1_Silent_p.G580G|POSTN_ENST00000379749.4_Silent_p.G580G|POSTN_ENST00000541481.1_Silent_p.G580G	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	580	FAS1 4.				cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		TGTTAGTAACACCAGGTTCAA	0.333													G	38153417	A	G	38153417	2	3	370	1	0	0	0	0	0	0	0	1	12336	146	6	3		3	POSTN	13	38153417	Silent	SNP	A	TCGA-DU-6399-01A-12D-1705-08		38153417	77016461	42	39411											
ESR2	2100	broad.mit.edu	37	chr14	64735545	64735545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacttcgtaacacttcCgaagtcggcaggcctggcag	8	9	10	14	3	0	0	0	0	0	0	4	1	2	0	3	3	1	3	3	3	2	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:64735545C>T	ENST00000557772.1	-	3	619	c.620G>A	c.(619-621)cGg>cAg	p.R207Q	ESR2_ENST00000554572.1_Missense_Mutation_p.R207Q|ESR2_ENST00000555278.1_Missense_Mutation_p.R207Q|ESR2_ENST00000353772.3_Missense_Mutation_p.R207Q|ESR2_ENST00000542956.1_Missense_Mutation_p.R207Q|ESR2_ENST00000267525.6_Missense_Mutation_p.R207Q|ESR2_ENST00000358599.5_Missense_Mutation_p.R207Q|ESR2_ENST00000553796.1_Missense_Mutation_p.R207Q|ESR2_ENST00000357782.2_Missense_Mutation_p.R207Q|ESR2_ENST00000341099.4_Missense_Mutation_p.R207Q|ESR2_ENST00000555483.1_5'UTR	NM_001214903.1	NP_001201832.1	Q92731	ESR2_HUMAN	estrogen receptor 2 (ER beta)	207					cell-cell signaling|negative regulation of cell growth|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	mitochondrion|nucleoplasm	enzyme binding|estrogen receptor activity|receptor antagonist activity|sequence-specific DNA binding transcription factor activity|steroid binding|transcription coactivator activity|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	23				all cancers(60;0.00916)|OV - Ovarian serous cystadenocarcinoma(108;0.0111)|BRCA - Breast invasive adenocarcinoma(234;0.0437)	Bicalutamide(DB01128)|Estradiol(DB00783)|Estramustine(DB01196)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Trilostane(DB01108)	GTAACACTTCCGAAGTCGGCA	0.478													T	64735545	C	T	64735545	3	4	370	1	0	0	0	0	1	0	0	0	5298	652	23	1	1082	1	ESR2	14	64735545	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		64735545	42613995	43	39412											
TC2N	123036	broad.mit.edu	37	chr14	92268712	92268712	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcatagctaggtccgtgctGggatgaactggaaagttcta	11	11	12	7	1	2	1	1	1	1	0	3	3	3	3	1	3	3	3	1	3	5	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr14:92268712G>T	ENST00000435962.2	-	4	678	c.355C>A	c.(355-357)Cag>Aag	p.Q119K	TC2N_ENST00000556018.1_Missense_Mutation_p.Q119K|TC2N_ENST00000360594.5_Missense_Mutation_p.Q119K|TC2N_ENST00000340892.5_Missense_Mutation_p.Q119K	NM_001128596.1	NP_001122068	Q8N9U0	TAC2N_HUMAN	tandem C2 domains, nuclear	119						nucleus				breast(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(5)|skin(1)|upper_aerodigestive_tract(2)	18				COAD - Colon adenocarcinoma(157;0.218)		GGTCCGTGCTGGGATGAACTG	0.418													T	92268712	G	T	92268712	3	4	370	1	0	0	0	0	1	0	0	0	15765	1357	47	4	1153	4	TC2N	14	92268712	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	27533167	92268712	15080828	44	39413											
CLDN6	9074	broad.mit.edu	37	chr16	3065807	3065807	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcaggtcctgtggcagCgccagcagtgagtcgtacac	7	7	14	13	2	0	1	0	1	0	0	2	1	1	1	3	2	4	4	3	2	1	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:3065807C>T	ENST00000396925.1	-	3	644	c.216G>A	c.(214-216)gcG>gcA	p.A72A	CLDN6_ENST00000572154.1_Intron|CLDN6_ENST00000328796.4_Silent_p.A72A			P56747	CLD6_HUMAN	claudin 6	72					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						CCTGTGGCAGCGCCAGCAGTG	0.642													T	3065807	C	T	3065807	2	4	370	1	0	0	0	0	0	0	0	1	3520	755	27	1		1	CLDN6	16	3065807	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		3065807	87288946	45	39414											
UBN1	29855	broad.mit.edu	37	chr16	4927426	4927426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccgccccatgcagcGcctctcccacacgctgcggt	5	6	9	21	4	1	0	0	0	1	0	3	0	2	0	6	1	4	2	6	1	0	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:4927426G>A	ENST00000396658.4	+	16	4009	c.3306G>A	c.(3304-3306)gcG>gcA	p.A1102A	UBN1_ENST00000545171.1_Intron|UBN1_ENST00000262376.6_Silent_p.A1102A|UBN1_ENST00000590769.1_Intron	NM_016936.3	NP_058632.2	Q9NPG3	UBN1_HUMAN	ubinuclein 1	1102					chromatin modification|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter	PML body|tight junction	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(6)|kidney(4)|large_intestine(10)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38						CCCATGCAGCGCCTCTCCCAC	0.592													A	4927426	G	A	4927426	2	1	370	1	0	0	0	0	0	0	0	1	16994	1074	38	1		1	UBN1	16	4927426	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	1861619	4927426	85427327	46	39415											
GRIN2A	2903	broad.mit.edu	37	chr16	9928049	9928049	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaacaatgagcagcaTcacaaacatcatcacccaga	18	4	7	12	0	3	3	3	1	0	2	3	3	3	3	1	1	4	3	1	1	3	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:9928049T>A	ENST00000396573.2	-	9	1999	c.1690A>T	c.(1690-1692)Atg>Ttg	p.M564L	GRIN2A_ENST00000330684.3_Missense_Mutation_p.M564L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.M407L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.M564L|GRIN2A_ENST00000562109.1_Missense_Mutation_p.M564L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.M564L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	564					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGAGCAGCATCACAAACATC	0.428													A	9928049	T	A	9928049	3	1	370	1	0	0	0	0	1	0	0	0	6834	1435	50	5	2728	5	GRIN2A	16	9928049	Missense_Mutation	SNP	T	TCGA-DU-6399-01A-12D-1705-08	5000623	9928049	80426704	47	39416											
TNRC6A	27327	broad.mit.edu	37	chr16	24802267	24802267	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactcaggggcatgtatagaTaagactagccctaatggtaa	15	9	10	7	0	1	2	1	0	0	2	1	2	1	2	1	3	2	3	1	3	7	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:24802267T>C	ENST00000395799.3	+	6	2433	c.2304T>C	c.(2302-2304)gaT>gaC	p.D768D	TNRC6A_ENST00000315183.7_Silent_p.D768D	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	768	Sufficient for interaction with EIF2C1 and EIF2C4.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CATGTATAGATAAGACTAGCC	0.498													C	24802267	T	C	24802267	2	2	370	1	0	0	0	0	0	0	0	1	16440	1403	49	3		3	TNRC6A	16	24802267	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	14874218	24802267	65552486	48	39417											
ANKRD11	29123	broad.mit.edu	37	chr16	89348536	89348536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccggtgcctctccttctCgtctctccatttctccctgt	1	16	6	18	2	4	0	0	0	4	0	10	0	6	0	5	1	1	0	5	1	0	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr16:89348536C>T	ENST00000301030.4	-	9	4874	c.4414G>A	c.(4414-4416)Gag>Aag	p.E1472K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.E1472K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1472	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ctctccttctcgtctctccat	0.532													T	89348536	C	T	89348536	3	4	370	1	0	0	0	0	1	0	0	0	639	893	31	1	3597	1	ANKRD11	16	89348536	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	64546269	89348536	1006217	49	39418											
TP53	7157	broad.mit.edu	37	chr17	7577081	7577099	+	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCCTCTGTGCGCCGGTCTC	-																															ctttcttgcggagattctctTcctctgtgcgccggtctctc																								rs28934574	byFrequency	TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7577081_7577099delTCCTCTGTGCGCCGGTCTC	ENST00000420246.2	-	8	971_989	c.839_857delGAGACCGGCGCACAGAGGA	c.(838-858)agagaccggcgcacagaggaafs	p.RDRRTEE280fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.RDRRTEE280fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.RDRRTEE280fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> 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.R282W(401)|p.E285K(111)|p.R280T(65)|p.E286K(58)|p.R280K(49)|p.R282G(29)|p.D281E(28)|p.R283P(27)|p.R282Q(27)|p.D281N(25)|p.E285*(24)|p.E286*(22)|p.D281H(19)|p.E286G(18)|p.R283C(17)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.E285V(15)|p.R280S(15)|p.R283H(13)|p.R282R(10)|p.D281G(10)|p.E286V(9)|p.T284P(9)|p.0?(8)|p.E285G(5)|p.E286Q(5)|p.D281V(5)|p.D281D(5)|p.E285Q(4)|p.R283R(4)|p.R283L(4)|p.R282fs*24(4)|p.R283fs*62(4)|p.E285E(3)|p.T284T(3)|p.R282L(3)|p.R282H(3)|p.R280R(3)|p.T284A(3)|p.R283G(2)|p.E285A(2)|p.D281fs*63(2)|p.E286fs*59(2)|p.D281_R282>EW(2)|p.R283fs*23(2)|p.D281A(2)|p.T284fs*21(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.R283fs*16(2)|p.E286fs*17(2)|p.T284fs*61(2)|p.T284fs*62(2)|p.R283fs*63(2)|p.?(2)|p.R283S(1)|p.G279fs*59(1)|p.D281_R282insXX(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.R283fs*56(1)|p.E286A(1)|p.R283fs*59(1)|p.C275fs*20(1)|p.E285_N288delEEEN(1)|p.R283del(1)|p.R283fs*22(1)|p.V272_K292del21(1)|p.D281R(1)|p.E285fs*60(1)|p.A276_R283delACPGRDRR(1)|p.R280fs*62(1)|p.T284_G293del10(1)|p.D281fs*24(1)|p.E285fs*13(1)|p.T284I(1)|p.L265_K305del41(1)|p.R283_T284>T(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.E285_L289delEEENL(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.T284fs*57(1)|p.D281_R282delDR(1)|p.E285fs*20(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)		GAGATTCTCTTCCTCTGTGCGCCGGTCTCTCCCAGGACA	0.553		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)			-	7577099	TCCTCTGTGCGCCGGTCTC	-	7577081	7	5	370	1	0	1	0	1	0	0	0	0	16482	1783	62	0	429	0	TP53	17	7577081	Frame_Shift_Del	DEL	TCCTCTGTGCGCCGGTCTC	TCGA-DU-6399-01A-12D-1705-08		7577081	73618129	50	39419											
TP53	7157	broad.mit.edu	37	chr17	7578554	7578554	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgttgagggcaggggagtActgtaggaagaggaaggaga	12	7	19	3	0	0	3	0	1	0	2	0	7	0	6	0	6	1	4	0	6	4	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7578554A>C	ENST00000420246.2	-	5	508	c.376T>G	c.(376-378)Tac>Gac	p.Y126D	TP53_ENST00000269305.4_Splice_Site_p.Y126D|TP53_ENST00000413465.2_Splice_Site_p.Y126D|TP53_ENST00000455263.2_Splice_Site_p.Y126D|TP53_ENST00000359597.4_Splice_Site_p.Y126D|TP53_ENST00000445888.2_Splice_Site_p.Y126D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching 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 -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y126D(9)|p.0?(8)|p.Y126N(6)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.Y33D(2)|p.V73fs*9(1)|p.?(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)|p.Y126fs*18(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)		GCAGGGGAGTACTGTAGGAAG	0.557		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)			C	7578554	A	C	7578554	5	2	370	1	0	0	0	0	0	0	1	0	16482	405	14	5	922	5	TP53	17	7578554	Splice_Site	SNP	A	TCGA-DU-6399-01A-12D-1705-08	1473	7578554	73616656	51	39420											
DNAH2	146754	broad.mit.edu	37	chr17	7662866	7662866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acggggatggaaagaccagcCcaaacccactcttccaagtc	13	5	9	14	1	1	1	0	0	1	1	3	3	2	3	4	3	2	0	4	3	3	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:7662866C>T	ENST00000572933.1	+	16	4035	c.2575C>T	c.(2575-2577)Cca>Tca	p.P859S	DNAH2_ENST00000389173.2_Missense_Mutation_p.P859S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	859	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AAAGACCAGCCCAAACCCACT	0.502													T	7662866	C	T	7662866	3	4	370	1	0	0	0	0	1	0	0	0	4641	623	22	2	2633	2	DNAH2	17	7662866	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	84312	7662866	73532344	52	39421											
DNAH9	1770	broad.mit.edu	37	chr17	11827172	11827172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacaatcagaactttcacAacgtgtctttggggcaagga	13	10	9	9	1	4	1	3	0	1	1	4	2	4	2	0	3	3	1	0	3	5	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:11827172A>G	ENST00000262442.4	+	62	11859	c.11791A>G	c.(11791-11793)Aac>Gac	p.N3931D	DNAH9_ENST00000454412.2_Missense_Mutation_p.N3931D|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000608377.1_Missense_Mutation_p.N243D	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		GAACTTTCACAACGTGTCTTT	0.458													G	11827172	A	G	11827172	3	3	370	1	0	0	0	0	1	0	0	0	4647	130	5	3	12037	3	DNAH9	17	11827172	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	4164306	11827172	69368038	53	39422											
ULK2	9706	broad.mit.edu	37	chr17	19720091	19720091	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgagatgttgtgtggcAccaaaacaaagtcatccgtg	12	9	11	9	2	1	2	1	1	0	1	2	3	2	2	2	1	1	2	2	1	3	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr17:19720091A>C	ENST00000395544.4	-	13	1566	c.1067T>G	c.(1066-1068)gTg>gGg	p.V356G	ULK2_ENST00000361658.2_Missense_Mutation_p.V356G|ULK2_ENST00000580130.1_Intron	NM_014683.3	NP_055498.3	Q8IYT8	ULK2_HUMAN	unc-51 like autophagy activating kinase 2	356					signal transduction		ATP binding|protein binding|protein serine/threonine kinase activity			large_intestine(1)|skin(4)|stomach(1)	6	all_cancers(12;4.97e-05)|all_epithelial(12;0.00362)|Breast(13;0.186)					GTTGTGTGGCACCAAAACAAA	0.398													C	19720091	A	C	19720091	3	2	370	1	0	0	0	0	1	0	0	0	17078	159	6	5	2103	5	ULK2	17	19720091	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	7892919	19720091	61475119	54	39423											
SERPINB7	8710	broad.mit.edu	37	chr18	61465877	61465877	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaaggtggcataagctCatctgctgtaatggtgctgg	8	12	15	6	0	2	1	1	1	1	0	2	1	2	1	0	5	3	5	0	5	3	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr18:61465877C>A	ENST00000398019.2	+	6	819	c.494C>A	c.(493-495)tCa>tAa	p.S165*	SERPINB7_ENST00000546027.1_Nonsense_Mutation_p.S165*|SERPINB7_ENST00000540675.1_Nonsense_Mutation_p.S148*|SERPINB7_ENST00000336429.2_Nonsense_Mutation_p.S165*	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	165					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGCATAAGCTCATCTGCTGTA	0.353													A	61465877	C	A	61465877	4	1	370	1	0	0	0	0	0	1	0	0	14199	838	29	4	512	4	SERPINB7	18	61465877	Nonsense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		61465877	16611371	55	39424											
REEP6	92840	broad.mit.edu	37	chr19	1495534	1495534	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctactgggtggtgtaCgccctgtttgggctggccga	4	11	14	12	2	1	0	1	0	0	0	1	1	1	0	3	4	2	3	3	4	2	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:1495534C>T	ENST00000233596.3	+	3	380	c.276C>T	c.(274-276)taC>taT	p.Y92Y		NM_138393.1	NP_612402.1	Q96HR9	REEP6_HUMAN	receptor accessory protein 6	92						integral to membrane				lung(1)|ovary(1)	2		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		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)		GGGTGGTGTACGCCCTGTTTG	0.622													T	1495534	C	T	1495534	2	4	370	1	0	0	0	0	0	0	0	1	13297	547	19	1		1	REEP6	19	1495534	Silent	SNP	C	TCGA-DU-6399-01A-12D-1705-08		1495534	57633449	56	39425											
PTPRS	5802	broad.mit.edu	37	chr19	5218496	5218496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggtgaggggcgaggtcgGcattgttcaggaggcatttg	6	10	20	5	2	1	1	1	1	0	0	2	3	1	2	0	8	0	3	0	8	0	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:5218496G>A	ENST00000372412.4	-	25	4219	c.3986C>T	c.(3985-3987)gCc>gTc	p.A1329V	PTPRS_ENST00000357368.4_Missense_Mutation_p.A1328V|PTPRS_ENST00000348075.2_Missense_Mutation_p.A1306V|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000588012.1_Missense_Mutation_p.A1306V|PTPRS_ENST00000353284.2_Missense_Mutation_p.A897V|PTPRS_ENST00000262963.6_Missense_Mutation_p.A1324V|PTPRS_ENST00000587303.1_Missense_Mutation_p.A1328V|PTPRS_ENST00000592099.1_Missense_Mutation_p.A897V			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	1328					cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GGCGAGGTCGGCATTGTTCAG	0.527													A	5218496	G	A	5218496	3	1	370	1	0	0	0	0	1	0	0	0	12899	1203	42	2	1919	2	PTPRS	19	5218496	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	3722962	5218496	53910487	57	39426											
C3	718	broad.mit.edu	37	chr19	6678249	6678249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagggcttctctgcacttGatggggctgatgaacgtgcg	6	12	14	9	2	2	3	1	3	1	0	3	3	2	3	0	3	3	3	0	3	1	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:6678249G>T	ENST00000245907.6	-	40	4856	c.4764C>A	c.(4762-4764)atC>atA	p.I1588I	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1588	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTCTGCACTTGATGGGGCTGA	0.587													T	6678249	G	T	6678249	2	4	370	1	0	0	0	0	0	0	0	1	2225	1280	45	4		4	C3	19	6678249	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	1459753	6678249	52450734	58	39427											
MUC16	94025	broad.mit.edu	37	chr19	9070400	9070400	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggaggtgaactcgttacGggctctgggcttgttgtgcc	4	14	15	8	2	1	1	0	1	1	0	2	2	1	2	1	4	3	4	1	4	2	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:9070400G>A	ENST00000397910.4	-	3	17249	c.17046C>T	c.(17044-17046)ccC>ccT	p.P5682P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5684	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P5682P(2)|p.P1315P(1)		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						AACTCGTTACGGGCTCTGGGC	0.512													A	9070400	G	A	9070400	2	1	370	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC16	19	9070400	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	2392151	9070400	50058583	59	39428											
SLC17A7	57030	broad.mit.edu	37	chr19	49933968	49933968	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatctcctcaggctctgcCcacggctgcttctctccaga	5	11	7	18	1	5	1	2	0	3	1	8	1	6	1	3	2	2	3	3	2	0	1			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:49933968C>G	ENST00000221485.3	-	12	1662	c.1491G>C	c.(1489-1491)tgG>tgC	p.W497C	SLC17A7_ENST00000600601.1_Missense_Mutation_p.W430C|SLC17A7_ENST00000543531.1_Missense_Mutation_p.W485C	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	497					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		CAGGCTCTGCCCACGGCTGCT	0.587													G	49933968	C	G	49933968	3	3	370	1	0	0	0	0	1	0	0	0	14516	624	22	4	195	4	SLC17A7	19	49933968	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08	40863568	49933968	9195015	60	39429											
TMEM150B	284417	broad.mit.edu	37	chr19	55828207	55828207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcccaggcggaggggcccaAtccaggcagccccgggctgg	6	2	18	15	2	0	0	0	0	0	0	1	1	1	1	5	8	1	2	5	8	1	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:55828207A>G	ENST00000326652.4	-	7	634	c.452T>C	c.(451-453)aTt>aCt	p.I151T	TMEM150B_ENST00000438693.1_Missense_Mutation_p.I151T	NM_001282011.1	NP_001268940.1	A6NC51	T150B_HUMAN	transmembrane protein 150B	151						integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3						GAGGGGCCCAATCCAGGCAGC	0.627													G	55828207	A	G	55828207	3	3	370	1	0	0	0	0	1	0	0	0	16168	101	4	3	257	3	TMEM150B	19	55828207	Missense_Mutation	SNP	A	TCGA-DU-6399-01A-12D-1705-08	5894239	55828207	3300776	61	39430											
A1BG	1	broad.mit.edu	37	chr19	58863737	58863737	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtagttgccaggctgAtggactggaaaggtggcctc	8	9	15	9	0	0	1	0	1	0	0	1	3	0	3	2	5	2	4	2	5	2	2			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr19:58863737A>G	ENST00000263100.3	-	4	586	c.525T>C	c.(523-525)caT>caC	p.H175H	A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000595302.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	175	Ig-like V-type 2.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		TGCCAGGCTGATGGACTGGAA	0.622													G	58863737	A	G	58863737	2	3	370	1	0	0	0	0	0	0	0	1	1	330	12	3		3	A1BG	19	58863737	Silent	SNP	A	TCGA-DU-6399-01A-12D-1705-08	3035530	58863737	265246	62	39431											
AURKA	6790	broad.mit.edu	37	chr20	54956513	54956513	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagttctctgctcatcaaaCtttgaaagtttctgaagttc	10	15	7	9	0	4	2	2	2	2	0	6	2	4	2	0	0	2	5	0	0	3	4			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr20:54956513C>A	ENST00000395909.4	-	8	1246	c.681G>T	c.(679-681)aaG>aaT	p.K227N	AURKA_ENST00000371356.2_Missense_Mutation_p.K227N|AURKA_ENST00000395914.1_Missense_Mutation_p.K227N|AURKA_ENST00000312783.6_Missense_Mutation_p.K227N|AURKA_ENST00000395907.1_Missense_Mutation_p.K227N|AURKA_ENST00000395913.3_Missense_Mutation_p.K227N|AURKA_ENST00000347343.2_Missense_Mutation_p.K227N|AURKA_ENST00000395915.3_Missense_Mutation_p.K227N|AURKA_ENST00000395911.1_Missense_Mutation_p.K227N	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	227	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GCTCATCAAACTTTGAAAGTT	0.373													A	54956513	C	A	54956513	3	1	370	1	0	0	0	0	1	0	0	0	1226	564	20	4	546	4	AURKA	20	54956513	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		54956513	8069007	63	39432											
TPTE	7179	broad.mit.edu	37	chr21	10908895	10908895	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatagtatgtaggaagatTctaaaaagaaaaaaaaattt	21	11	7	2	0	2	2	1	0	1	2	2	3	2	3	0	1	0	2	0	1	11	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:10908895T>C	ENST00000298232.7	-	22	1763	c.1396A>G	c.(1396-1398)Aat>Gat	p.N466D	TPTE_ENST00000342420.5_Splice_Site_p.N446D|TPTE_ENST00000361285.4_Splice_Site_p.N484D|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	484	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTAGGAAGATTCTAAAAAGAA	0.254													C	10908895	T	C	10908895	5	2	370	1	0	0	0	0	0	0	1	0	16531	1797	62	3	213	3	TPTE	21	10908895	Splice_Site	SNP	T	TCGA-DU-6399-01A-12D-1705-08		10908895	37221000	64	39433											
IFNAR2	3455	broad.mit.edu	37	chr21	34625023	34625023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacctatatcattgacaaGttaattccaaacacgaacta	16	12	3	10	1	2	1	2	1	0	0	3	2	3	1	2	0	2	1	2	0	7	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:34625023G>A	ENST00000433395.2	+	3	320	c.320G>A	c.(319-321)aGt>aAt	p.S107N	IFNAR2_ENST00000404220.3_Silent_p.K199K|IFNAR2_ENST00000413881.1_Silent_p.K127K|IFNAR2_ENST00000342136.4_Silent_p.K199K|IFNAR2_ENST00000382264.3_Silent_p.K199K|IFNAR2_ENST00000342101.3_Silent_p.K199K|IFNAR2_ENST00000382241.3_Silent_p.K199K																							TCATTGACAAGTTAATTCCAA	0.353													A	34625023	G	A	34625023	3	1	370	1	0	0	0	0	1	0	0	0	7603	1020	36	2	619	2	IFNAR2	21	34625023	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08	23716128	34625023	13504872	65	39434											
KRTAP12-2	353323	broad.mit.edu	37	chr21	46086744	46086744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacacaacaggctggctgGcaggggctgggcgcgcagca	8	3	18	12	2	0	0	0	0	0	0	0	0	0	0	0	7	2	7	0	7	1	0			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr21:46086744G>A	ENST00000360770.3	-	1	100	c.60C>T	c.(58-60)tgC>tgT	p.C20C	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	20	23 X 5 AA approximate repeats.					keratin filament				central_nervous_system(1)|endometrium(1)|lung(3)	5						AGGCTGGCTGGCAGGGGCTGG	0.667													A	46086744	G	A	46086744	2	1	370	1	0	0	0	0	0	0	0	1	8577	1195	42	2		2	KRTAP12-2	21	46086744	Silent	SNP	G	TCGA-DU-6399-01A-12D-1705-08	11461721	46086744	2043151	66	39435											
ZNF280A	129025	broad.mit.edu	37	chr22	22869695	22869695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacatgatttgcaggctgcGacacgtgagcaggatattga	11	10	12	8	2	1	3	1	3	0	0	1	5	1	4	0	2	3	3	0	2	1	3			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chr22:22869695G>A	ENST00000302097.3	-	2	512	c.260C>T	c.(259-261)tCg>tTg	p.S87L		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TGCAGGCTGCGACACGTGAGC	0.468													A	22869695	G	A	22869695	3	1	370	1	0	0	0	0	1	0	0	0	17915	1059	37	1	1372	1	ZNF280A	22	22869695	Missense_Mutation	SNP	G	TCGA-DU-6399-01A-12D-1705-08		22869695	28434871	67	39436											
DMD	1756	broad.mit.edu	37	chrX	32380909	32380909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtagatcttcctacctttCcagtcttaattctgtgtgaa	9	16	7	9	0	3	2	0	1	3	1	5	3	5	2	3	0	1	1	3	0	4	6			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:32380909C>T	ENST00000357033.4	-	37	5527	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	DMD_ENST00000378677.2_Missense_Mutation_p.G1770E	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1774	Interaction with SYNM (By similarity).				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TCCTACCTTTCCAGTCTTAAT	0.483													T	32380909	C	T	32380909	3	4	370	1	0	0	0	0	1	0	0	0	4619	855	30	2	6056	2	DMD	23	32380909	Missense_Mutation	SNP	C	TCGA-DU-6399-01A-12D-1705-08		32380909	122889651	68	39437											
ATRX	546	broad.mit.edu	37	chrX	76939864	76939864	+	Frame_Shift_Del	DEL	T	T	-																															tgtcaacttttatcttcttcTtattttgctgcaacaactgt																										TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:76939864delT	ENST00000373344.5	-	9	1098	c.884delA	c.(883-885)aagfs	p.K297fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K259fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	297					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)	TATCTTCTTCTTATTTTGCTG	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939864	T	-	76939864	7	5	370	1	0	1	0	1	0	0	0	0	1213	1609	56	0	6702	0	ATRX	23	76939864	Frame_Shift_Del	DEL	T	TCGA-DU-6399-01A-12D-1705-08	44558955	76939864	78330696	69	39438											
MCF2	4168	broad.mit.edu	37	chrX	138678852	138678852	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagccaaatccttcattttTgtagcacctttcttgtgccc	7	16	5	13	0	2	0	1	0	1	0	3	0	3	0	4	0	3	2	4	0	3	7			TCGA-DU-6399-01A-12D-1705-08	TCGA-DU-6399-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1d386817-502d-4f0b-86a6-be6c07742c3a	b1f23f7a-9ecf-4f17-8692-dff4f56e41b9	g.chrX:138678852T>C	ENST00000520602.1	-	22	2598	c.2313A>G	c.(2311-2313)acA>acG	p.T771T	MCF2_ENST00000370573.4_Silent_p.T711T|MCF2_ENST00000536274.1_Silent_p.T672T|MCF2_ENST00000338585.6_Silent_p.T727T|MCF2_ENST00000370576.4_Silent_p.T711T|MCF2_ENST00000414978.1_Silent_p.T771T|MCF2_ENST00000519895.1_Silent_p.T787T|MCF2_ENST00000370578.4_Silent_p.T856T			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	711	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					CCTTCATTTTTGTAGCACCTT	0.398													C	138678852	T	C	138678852	2	2	370	1	0	0	0	0	0	0	0	1	9453	1799	63	3		3	MCF2	23	138678852	Silent	SNP	T	TCGA-DU-6399-01A-12D-1705-08	61738988	138678852	16591708	70	39439											
LRRC8B	23507	broad.mit.edu	37	chr1	90048483	90048483	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgcttccgctccccctcCgaattcagaatgacctccac	8	8	5	20	3	1	2	1	1	0	1	5	3	5	2	7	0	0	2	7	0	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:90048483C>T	ENST00000330947.2	+	5	634	c.274C>T	c.(274-276)Cga>Tga	p.R92*	LRRC8B_ENST00000358200.4_Nonsense_Mutation_p.R92*|LRRC8B_ENST00000439853.1_Nonsense_Mutation_p.R92*	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	92						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		GCTCCCCCTCCGAATTCAGAA	0.498													T	90048483	C	T	90048483	4	4	371	1	0	0	0	0	0	1	0	0	9092	644	23	1	276	1	LRRC8B	1	90048483	Nonsense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		90048483	159202138	1	39440											
FCRL3	115352	broad.mit.edu	37	chr1	157667654	157667654	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctttcccctgacatctCagaatgacattgtctccttc	7	16	5	13	0	3	3	1	2	3	1	7	3	4	3	3	0	0	0	3	0	1	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr1:157667654C>A	ENST00000368184.3	-	5	645	c.354G>T	c.(352-354)ctG>ctT	p.L118L	FCRL3_ENST00000368186.5_Silent_p.L118L|FCRL3_ENST00000473231.1_5'UTR	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	118	Ig-like C2-type 2.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					CCTGACATCTCAGAATGACAT	0.423													A	157667654	C	A	157667654	2	1	371	1	0	0	0	0	0	0	0	1	5845	813	29	4		4	FCRL3	1	157667654	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08	67619171	157667654	91582967	2	39441											
APOB	338	broad.mit.edu	37	chr2	21230714	21230714	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccttcccttctccaaacAgtgccatgcctttagcagtt	7	13	6	15	0	1	0	0	0	1	0	3	0	2	0	5	0	5	2	5	0	2	5			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:21230714A>T	ENST00000233242.1	-	26	9153	c.9026T>A	c.(9025-9027)cTg>cAg	p.L3009Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3009					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	p.F3010fs*15(1)		NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTCTCCAAACAGTGCCATGCC	0.418													T	21230714	A	T	21230714	3	4	371	1	0	0	0	0	1	0	0	0	788	188	7	5	4681	5	APOB	2	21230714	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08		21230714	221968659	3	39442											
PPIG	9360	broad.mit.edu	37	chr2	170460747	170460747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtgtgccccaaaacatgcGagaactttcgttgtctttgt	9	14	9	9	2	1	1	0	0	1	1	2	2	1	1	2	0	4	1	2	0	3	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:170460747G>A	ENST00000260970.3	+	4	332	c.112G>A	c.(112-114)Gag>Aag	p.E38K	PPIG_ENST00000448752.2_Missense_Mutation_p.E38K|PPIG_ENST00000462903.1_Missense_Mutation_p.E38K|PPIG_ENST00000409714.3_Missense_Mutation_p.E38K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	38	PPIase cyclophilin-type.				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CAAAACATGCGAGAACTTTCG	0.343													A	170460747	G	A	170460747	3	1	371	1	0	0	0	0	1	0	0	0	12406	1059	37	1	118	1	PPIG	2	170460747	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	149230033	170460747	72738626	4	39443											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	371	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	38652365	209113112	34086261	5	39444											
SLC11A1	6556	broad.mit.edu	37	chr2	219258872	219258872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtgctgcccatcctcacGttcaccagcatgcccaccct	6	8	7	20	2	2	0	2	0	0	0	3	0	3	0	6	0	4	3	6	0	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr2:219258872G>A	ENST00000233202.6	+	13	1684	c.1344G>A	c.(1342-1344)acG>acA	p.T448T	SLC11A1_ENST00000539932.1_Silent_p.T330T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	448					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCATCCTCACGTTCACCAGCA	0.582													A	219258872	G	A	219258872	2	1	371	1	0	0	0	0	0	0	0	1	14474	1132	40	1		1	SLC11A1	2	219258872	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	10145760	219258872	23940501	6	39445											
ULK4	54986	broad.mit.edu	37	chr3	41953050	41953050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacctagtctgaaagagtgaCctagtggttgaccactcttg	10	12	10	9	0	2	4	0	3	2	1	2	4	2	4	3	1	1	1	3	1	4	5			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:41953050C>T	ENST00000301831.4	-	10	1460	c.998G>A	c.(997-999)gGt>gAt	p.G333D	ULK4_ENST00000420927.1_Missense_Mutation_p.G333D	NM_017886.2	NP_060356.2	Q96C45	ULK4_HUMAN	unc-51 like kinase 4	333							ATP binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|large_intestine(6)|lung(7)|prostate(5)|skin(1)	22				KIRC - Kidney renal clear cell carcinoma(284;0.214)		GAAAGAGTGACCTAGTGGTTG	0.408													T	41953050	C	T	41953050	3	4	371	1	0	0	0	0	1	0	0	0	17080	507	18	2	2941	2	ULK4	3	41953050	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		41953050	156069380	7	39446											
CCDC13	152206	broad.mit.edu	37	chr3	42754752	42754752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcaccacggtgcggtgtCgctcctcctgcagcttcctc	4	9	10	18	3	0	0	0	0	0	0	5	0	3	0	5	2	4	4	5	2	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:42754752C>T	ENST00000310232.6	-	14	1858	c.1775G>A	c.(1774-1776)cGa>cAa	p.R592Q		NM_144719.3	NP_653320.3	Q8IYE1	CCD13_HUMAN	coiled-coil domain containing 13	592										endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	25						GGTGCGGTGTCGCTCCTCCTG	0.602													T	42754752	C	T	42754752	3	4	371	1	0	0	0	0	1	0	0	0	2791	884	31	1	384	1	CCDC13	3	42754752	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	801702	42754752	155267678	8	39447											
CBLB	868	broad.mit.edu	37	chr3	105495351	105495351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgatttctgccagcatgTgactgaagataagggacagt	11	12	11	7	0	1	4	0	3	1	1	1	5	1	5	1	1	2	1	1	1	2	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:105495351T>A	ENST00000264122.4	-	4	776	c.455A>T	c.(454-456)cAc>cTc	p.H152L	CBLB_ENST00000545639.1_Intron|CBLB_ENST00000405772.1_Missense_Mutation_p.H152L|CBLB_ENST00000403724.1_Missense_Mutation_p.H152L|CBLB_ENST00000394027.3_Missense_Mutation_p.H174L	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	152	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						TGCCAGCATGTGACTGAAGAT	0.378			Mis S		AML								A	105495351	T	A	105495351	3	1	371	1	0	0	0	0	1	0	0	0	2727	1696	59	5	2557	5	CBLB	3	105495351	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08	62740599	105495351	92527079	9	39448											
NMD3	51068	broad.mit.edu	37	chr3	160952983	160952983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcatcagaatacacttcGtatcaaagagattcatggtg	15	11	8	7	1	3	2	3	0	0	2	4	3	3	2	0	1	2	2	0	1	5	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:160952983G>A	ENST00000460469.1	+	6	1015	c.560G>A	c.(559-561)cGt>cAt	p.R187H	NMD3_ENST00000351193.2_Missense_Mutation_p.R187H|NMD3_ENST00000478160.1_3'UTR|NMD3_ENST00000472947.1_Missense_Mutation_p.R187H			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	187					protein transport	cytoplasm|nucleolus|nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			AATACACTTCGTATCAAAGAG	0.249													A	160952983	G	A	160952983	3	1	371	1	0	0	0	0	1	0	0	0	10564	1145	40	1	582	1	NMD3	3	160952983	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	55457632	160952983	37069447	10	39449											
TTC14	151613	broad.mit.edu	37	chr3	180327531	180327531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaaaaggcataagaaacAtaagaggaaccgttcagagt	19	6	9	7	1	2	3	2	0	0	3	2	4	2	4	1	2	2	2	1	2	6	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr3:180327531A>G	ENST00000296015.4	+	12	1646	c.1514A>G	c.(1513-1515)cAt>cGt	p.H505R	TTC14_ENST00000382584.4_Missense_Mutation_p.H505R|TTC14_ENST00000412756.2_3'UTR|TTC14_ENST00000465625.1_3'UTR	NM_133462.3	NP_597719.1	Q96N46	TTC14_HUMAN	tetratricopeptide repeat domain 14	505	Ser-rich.						RNA binding			endometrium(3)|kidney(5)|large_intestine(9)|lung(24)|ovary(2)|pancreas(1)|skin(1)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			CATAAGAAACATAAGAGGAAC	0.413													G	180327531	A	G	180327531	3	3	371	1	0	0	0	0	1	0	0	0	16783	217	8	3	1590	3	TTC14	3	180327531	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	19374548	180327531	17694899	11	39450											
DSPP	1834	broad.mit.edu	37	chr4	88534157	88534157	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagggaatggaaaagacagTagtaataacagcaagggcca	18	4	13	6	0	0	1	0	0	0	1	0	3	0	3	1	3	2	4	1	3	7	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr4:88534157T>C	ENST00000399271.1	+	4	939	c.819T>C	c.(817-819)agT>agC	p.S273S	DSPP_ENST00000282478.7_Silent_p.S273S|RP11-742B18.1_ENST00000506480.1_RNA	NM_014208.3	NP_055023.2	Q9NZW4	DSPP_HUMAN	dentin sialophosphoprotein	273					biomineral tissue development|ossification|skeletal system development	proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent			breast(2)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|skin(3)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Hepatocellular(203;0.114)|all_hematologic(202;0.236)		OV - Ovarian serous cystadenocarcinoma(123;0.000508)		GAAAAGACAGTAGTAATAACA	0.438													C	88534157	T	C	88534157	2	2	371	1	0	0	0	0	0	0	0	1	4821	1635	57	3		3	DSPP	4	88534157	Silent	SNP	T	TCGA-DU-6400-01A-12D-1705-08		88534157	102620119	12	39451											
PLEKHG4B	153478	broad.mit.edu	37	chr5	169649	169649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagcagcacttcctccGggagctggagcgctgccagc	7	5	12	17	2	0	0	0	0	0	0	2	2	2	2	5	2	6	4	5	2	0	1	rs139086978		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:169649G>A	ENST00000283426.6	+	12	2653	c.2603G>A	c.(2602-2604)cGg>cAg	p.R868Q		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	868	DH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	p.R868Q(1)|p.R59Q(1)		endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CACTTCCTCCGGGAGCTGGAG	0.622													A	169649	G	A	169649	3	1	371	1	0	0	0	0	1	0	0	0	12149	1116	39	1	2649	1	PLEKHG4B	5	169649	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		169649	180745611	13	39452											
SLC6A3	6531	broad.mit.edu	37	chr5	1409936	1409936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggaactcatcgatgagcCcggtgatcactgactccata	10	9	10	12	2	2	3	2	3	0	0	4	5	3	4	2	2	2	1	2	2	2	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:1409936C>T	ENST00000270349.9	-	10	1425	c.1298G>A	c.(1297-1299)gGg>gAg	p.G433E	SLC6A3_ENST00000453492.2_Missense_Mutation_p.G433E	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	433					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	ATCGATGAGCCCGGTGATCAC	0.612													T	1409936	C	T	1409936	3	4	371	1	0	0	0	0	1	0	0	0	14779	623	22	2	588	2	SLC6A3	5	1409936	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	1240287	1409936	179505324	14	39453											
N4BP3	23138	broad.mit.edu	37	chr5	177547253	177547253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatccatgcaaagtctggcGtcccacaaaggccagaagct	12	7	9	13	1	1	1	0	0	1	1	3	1	3	1	3	2	2	2	3	2	4	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr5:177547253G>A	ENST00000274605.5	+	3	764	c.405G>A	c.(403-405)gcG>gcA	p.A135A		NM_015111.1	NP_055926.1	O15049	N4BP3_HUMAN	NEDD4 binding protein 3	135						cytoplasmic vesicle membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9	all_cancers(89;0.00294)|Renal(175;0.000269)|Lung NSC(126;0.00858)|all_lung(126;0.0139)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGTCTGGCGTCCCACAAAG	0.682													A	177547253	G	A	177547253	2	1	371	1	0	0	0	0	0	0	0	1	10189	1132	40	1		1	N4BP3	5	177547253	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	176137317	177547253	3368007	15	39454											
GPR116	221395	broad.mit.edu	37	chr6	46830657	46830657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagactgtttattggggCagagatgcagtcatttctct	9	13	12	7	0	2	2	1	0	1	2	3	4	2	2	0	2	2	4	0	2	1	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:46830657C>T	ENST00000283296.7	-	15	2455	c.2167G>A	c.(2167-2169)Gcc>Acc	p.A723T	GPR116_ENST00000456426.2_Missense_Mutation_p.A581T|GPR116_ENST00000545669.1_Missense_Mutation_p.A152T|GPR116_ENST00000362015.4_Missense_Mutation_p.A723T|GPR116_ENST00000265417.7_Missense_Mutation_p.A723T	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	723					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			TTTATTGGGGCAGAGATGCAG	0.512													T	46830657	C	T	46830657	3	4	371	1	0	0	0	0	1	0	0	0	6687	710	25	2	1901	2	GPR116	6	46830657	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		46830657	124284410	16	39455											
ZNF292	23036	broad.mit.edu	37	chr6	87967233	87967233	+	Frame_Shift_Del	DEL	C	C	-																															aactggaaaataatacaaatCattattcctcacagattgaa																										TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr6:87967233delC	ENST00000369577.3	+	8	3929	c.3886delC	c.(3886-3888)catfs	p.H1296fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.H1291fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1296					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAATACAAATCATTATTCCTC	0.378													-	87967233	C	-	87967233	7	5	371	1	0	1	0	1	0	0	0	0	17927	826	29	0	3916	0	ZNF292	6	87967233	Frame_Shift_Del	DEL	C	TCGA-DU-6400-01A-12D-1705-08	41136576	87967233	83147834	17	39456											
PGAM2	5224	broad.mit.edu	37	chr7	44102503	44102503	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccccgtgggcaggttcaGctccatgatcgcctggtctg	5	10	13	13	2	2	1	1	1	1	0	5	2	4	1	4	3	1	3	4	3	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:44102503G>C	ENST00000297283.3	-	3	679	c.622C>G	c.(622-624)Ctg>Gtg	p.L208V		NM_000290.3	NP_000281.2	P15259	PGAM2_HUMAN	phosphoglycerate mutase 2 (muscle)	208					gluconeogenesis|glycolysis|striated muscle contraction	cytosol	2,3-bisphospho-D-glycerate 2-phosphohydrolase activity|bisphosphoglycerate mutase activity			large_intestine(2)|lung(4)|ovary(1)|stomach(1)	8						GGCAGGTTCAGCTCCATGATC	0.557													C	44102503	G	C	44102503	3	2	371	1	0	0	0	0	1	0	0	0	11851	962	34	4	143	4	PGAM2	7	44102503	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		44102503	115036160	18	39457											
LMOD2	442721	broad.mit.edu	37	chr7	123302491	123302491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacttcataacgggaaaggGgatcctggccatcatgagag	13	7	12	9	1	2	1	2	1	0	1	3	4	3	3	2	4	2	0	2	4	3	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:123302491G>A	ENST00000458573.2	+	2	1008	c.851G>A	c.(850-852)gGg>gAg	p.G284E	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	284						cytoskeleton	actin binding|tropomyosin binding										ACGGGAAAGGGGATCCTGGCC	0.542													A	123302491	G	A	123302491	3	1	371	1	0	0	0	0	1	0	0	0	8918	1232	43	2	857	2	LMOD2	7	123302491	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	79199988	123302491	35836172	19	39458											
GALNTL5	168391	broad.mit.edu	37	chr7	151711757	151711757	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgtggaggccaactctttaTaatcccctgctctcgagtag	8	12	10	11	1	2	0	0	0	2	0	4	2	3	1	3	2	2	2	3	2	4	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr7:151711757T>A	ENST00000392800.2	+	8	1309	c.1055T>A	c.(1054-1056)aTa>aAa	p.I352K	GALNTL5_ENST00000431418.2_Missense_Mutation_p.I352K	NM_145292.3	NP_660335.2	Q7Z4T8	GLTL5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 5	352	Catalytic subdomain B.					Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(11)|ovary(2)|prostate(2)|skin(3)	32	all_neural(206;0.187)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00427)	UCEC - Uterine corpus endometrioid carcinoma (81;0.18)|BRCA - Breast invasive adenocarcinoma(188;0.166)		CAACTCTTTATAATCCCCTGC	0.393													A	151711757	T	A	151711757	3	1	371	1	0	0	0	0	1	0	0	0	6278	1406	49	5	1081	5	GALNTL5	7	151711757	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08	28409266	151711757	7426906	20	39459											
TACC1	6867	broad.mit.edu	37	chr8	38681524	38681524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggactactgaacaagtgAaatttctctgttttctgttg	10	16	8	7	0	3	2	1	2	2	0	4	3	3	3	0	1	2	2	0	1	4	5			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:38681524A>G	ENST00000379931.3	+	4	1787	c.1408A>G	c.(1408-1410)Aaa>Gaa	p.K470E	TACC1_ENST00000520611.1_Intron|TACC1_ENST00000317827.4_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000520615.1_Intron|TACC1_ENST00000520973.1_Intron|TACC1_ENST00000443286.2_Intron|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000518415.1_Intron|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000520340.1_Intron|TACC1_ENST00000330691.6_Missense_Mutation_p.K32E|TACC1_ENST00000519416.1_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	464	SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAACAAGTGAAATTTCTCTG	0.433													G	38681524	A	G	38681524	3	3	371	1	0	0	0	0	1	0	0	0	15598	261	9	3		3	TACC1	8	38681524	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08		38681524	107682498	21	39460											
KIFC2	90990	broad.mit.edu	37	chr8	145694030	145694030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagatgcatgggcagctgGcaggtaagggttggggttgg	8	8	20	5	0	0	1	0	0	0	1	0	1	0	1	0	7	3	8	0	7	1	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr8:145694030G>A	ENST00000301332.2	+	9	1377	c.1000G>A	c.(1000-1002)Gca>Aca	p.A334T	KIFC2_ENST00000301331.5_Missense_Mutation_p.A82T	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	334					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			TGGGCAGCTGGCAGGTAAGGG	0.652													A	145694030	G	A	145694030	3	1	371	1	0	0	0	0	1	0	0	0	8371	1203	42	2	1034	2	KIFC2	8	145694030	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	107012506	145694030	669992	22	39461											
DENND1A	57706	broad.mit.edu	37	chr9	126319963	126319963	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctttttcagcctgttcttCagggaagagatctggtgatg	8	14	11	8	0	4	2	2	1	2	1	4	4	4	3	2	2	1	1	2	2	1	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:126319963C>T	ENST00000373624.2	-	13	1080	c.879G>A	c.(877-879)ctG>ctA	p.L293L	DENND1A_ENST00000473039.1_5'UTR|DENND1A_ENST00000373618.1_Silent_p.L261L|DENND1A_ENST00000394219.3_Silent_p.L261L|DENND1A_ENST00000394215.2_Silent_p.L263L|DENND1A_ENST00000373620.3_Silent_p.L293L|DENND1A_ENST00000542603.1_Intron	NM_020946.1	NP_065997.1	Q8TEH3	DEN1A_HUMAN	DENN/MADD domain containing 1A	293						cell junction|clathrin coated vesicle membrane|presynaptic membrane	guanyl-nucleotide exchange factor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|liver(2)|lung(18)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43						GCCTGTTCTTCAGGGAAGAGA	0.537													T	126319963	C	T	126319963	2	4	371	1	0	0	0	0	0	0	0	1	4465	813	29	2		2	DENND1A	9	126319963	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08		126319963	14893468	23	39462											
NOTCH1	4851	broad.mit.edu	37	chr9	139399401	139399401	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcgcagctgctccggcGgcatcagcaccaccaccacc	7	6	10	18	3	1	0	1	0	0	0	2	0	2	0	5	2	4	6	5	2	0	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139399401G>T	ENST00000277541.6	-	26	4817	c.4742C>A	c.(4741-4743)cCg>cAg	p.P1581Q		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1581					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGCTCCGGCGGCATCAGCAC	0.682			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139399401	G	T	139399401	3	4	371	1	0	0	0	0	1	0	0	0	10623	1116	39	4	2961	4	NOTCH1	9	139399401	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	13079438	139399401	1814030	24	39463											
NOTCH1	4851	broad.mit.edu	37	chr9	139412252	139412252	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctggtccaggcaggtggCgtcgttctggcacgggttcg	5	10	16	10	4	2	0	0	0	2	0	5	0	3	0	1	6	0	4	1	6	1	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr9:139412252C>T	ENST00000277541.6	-	8	1468	c.1393G>A	c.(1393-1395)Gcc>Acc	p.A465T		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	465	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139412252	C	T	139412252	3	4	371	1	0	0	0	0	1	0	0	0	10623	768	27	1	6382	1	NOTCH1	9	139412252	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	12851	139412252	1801179	25	39464											
KIAA1217	56243	broad.mit.edu	37	chr10	24669943	24669943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaggcagccggactcGtgcgagccttcctgtggtga	6	9	14	12	3	0	2	0	1	0	1	3	4	2	3	4	3	3	1	4	3	0	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:24669943G>A	ENST00000376454.3	+	3	530	c.500G>A	c.(499-501)cGt>cAt	p.R167H	KIAA1217_ENST00000458595.1_Missense_Mutation_p.R167H|KIAA1217_ENST00000376452.3_Missense_Mutation_p.R167H|KIAA1217_ENST00000376462.1_Missense_Mutation_p.R87H|KIAA1217_ENST00000430453.2_Missense_Mutation_p.R88H	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	167					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGCCGGACTCGTGCGAGCCTT	0.532													A	24669943	G	A	24669943	3	1	371	1	0	0	0	0	1	0	0	0	8274	1145	40	1	510	1	KIAA1217	10	24669943	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		24669943	110864804	26	39465											
SVIL	6840	broad.mit.edu	37	chr10	29820187	29820187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggaaacaggtacttgccatcGacagttggcgtttctgaatg	10	11	12	8	2	1	1	0	1	1	0	2	3	1	2	1	3	3	3	1	3	3	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:29820187G>A	ENST00000375398.2	-	12	2489	c.2040C>T	c.(2038-2040)gtC>gtT	p.V680V	SVIL_ENST00000375400.3_Silent_p.V286V|SVIL_ENST00000355867.4_Silent_p.V680V			O95425	SVIL_HUMAN	supervillin	680					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				ACTTGCCATCGACAGTTGGCG	0.358													A	29820187	G	A	29820187	2	1	371	1	0	0	0	0	0	0	0	1	15517	1045	37	1		1	SVIL	10	29820187	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	5150244	29820187	105714560	27	39466											
C10orf91	170393	broad.mit.edu	37	chr10	134259250	134259250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctgggagcttgctggaCgcatgaccaggattctggga	7	9	14	11	1	1	1	0	1	1	0	2	5	2	5	2	4	2	3	2	4	0	2	rs112176383		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr10:134259250C>T	ENST00000392630.3	+	2	141	c.80C>T	c.(79-81)aCg>aTg	p.T27M	C10orf91_ENST00000490765.1_3'UTR|C10orf91_ENST00000321248.2_Missense_Mutation_p.T27M	NM_173541.2	NP_775812.1	Q5T1B1	CJ091_HUMAN	chromosome 10 open reading frame 91	27										endometrium(1)|kidney(1)|lung(1)|ovary(2)	5		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;6.95e-05)|Epithelial(32;0.000142)|all cancers(32;0.000162)		GCTTGCTGGACGCATGACCAG	0.607													T	134259250	C	T	134259250	3	4	371	1	0	0	0	0	1	0	0	0	1635	536	19	1	86	1	C10orf91	10	134259250	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	104439063	134259250	1275497	28	39467											
ALDH3B2	222	broad.mit.edu	37	chr11	67433865	67433865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgacggcttcagcaccacGcaactccctgcaggggcaga	9	6	11	15	2	2	2	1	1	1	1	3	2	3	2	2	3	3	5	2	3	1	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:67433865G>A	ENST00000349015.3	-	5	597	c.159C>T	c.(157-159)tgC>tgT	p.C53C	ALDH3B2_ENST00000530069.1_Silent_p.C53C	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	53					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	TCAGCACCACGCAACTCCCTG	0.672													A	67433865	G	A	67433865	2	1	371	1	0	0	0	0	0	0	0	1	500	1079	38	1		1	ALDH3B2	11	67433865	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08		67433865	67572651	29	39468											
ZW10	9183	broad.mit.edu	37	chr11	113639586	113639586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctggatttcagcaggtcaAtgtcttcagatagcttatcc	9	14	8	10	0	4	1	3	0	1	1	6	2	6	2	2	2	2	2	2	2	3	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr11:113639586A>G	ENST00000200135.3	-	2	353	c.209T>C	c.(208-210)aTt>aCt	p.I70T		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	70	Interaction with RINT1.|Interaction with ZWINT.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		CAGCAGGTCAATGTCTTCAGA	0.463													G	113639586	A	G	113639586	3	3	371	1	0	0	0	0	1	0	0	0	18344	101	4	3	2190	3	ZW10	11	113639586	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	46205721	113639586	21366930	30	39469											
DPY19L2	283417	broad.mit.edu	37	chr12	64020270	64020270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccatggttgaaaaagaaGcacagtactgtaataagacc	16	9	8	8	0	1	3	0	1	1	2	2	3	1	3	2	1	2	4	2	1	6	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:64020270G>C	ENST00000324472.4	-	7	1023	c.840C>G	c.(838-840)tgC>tgG	p.C280W	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	280					multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		TGAAAAAGAAGCACAGTACTG	0.313													C	64020270	G	C	64020270	3	2	371	1	0	0	0	0	1	0	0	0	4780	963	34	4	1500	4	DPY19L2	12	64020270	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		64020270	69831625	31	39470											
DNAH10	196385	broad.mit.edu	37	chr12	124408866	124408866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaaagaaaaaagccctgcGcttggttgtctgaccaagga	14	7	11	9	1	1	2	0	1	1	1	1	3	1	3	2	2	2	3	2	2	6	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr12:124408866G>A	ENST00000409039.3	+	66	11324	c.11299G>A	c.(11299-11301)Gct>Act	p.A3767T	CCDC92_ENST00000544798.1_Intron	NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	3767					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAAGCCCTGCGCTTGGTTGTC	0.403													A	124408866	G	A	124408866	3	1	371	1	0	0	0	0	1	0	0	0	4637	1087	38	1	11561	1	DNAH10	12	124408866	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	60388596	124408866	9443029	32	39471											
EDDM3B	64184	broad.mit.edu	37	chr14	21238446	21238446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagtccaagtcgagaattcaGagagtacaaatgtgatgtcc	15	9	10	7	1	1	3	1	1	0	2	4	5	3	3	2	0	1	1	2	0	5	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:21238446G>C	ENST00000326783.3	+	2	235	c.137G>C	c.(136-138)aGa>aCa	p.R46T		NM_022360.4	NP_071755.1	P56851	EP3B_HUMAN	epididymal protein 3B	46					spermatid development	extracellular region		p.R46I(1)		central_nervous_system(1)|kidney(1)|lung(3)|ovary(1)|skin(1)	7						CGAGAATTCAGAGAGTACAAA	0.393													C	21238446	G	C	21238446	3	2	371	1	0	0	0	0	1	0	0	0	4949	942	33	4	139	4	EDDM3B	14	21238446	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08		21238446	86111094	33	39472											
TTC8	123016	broad.mit.edu	37	chr14	89338726	89338726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcaggctggctctggtcaAcaacaacaaccacgccgagg	11	6	10	14	2	3	0	2	0	1	0	3	1	3	0	2	4	4	2	2	4	4	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr14:89338726A>G	ENST00000338104.6	+	13	1377	c.1325A>G	c.(1324-1326)aAc>aGc	p.N442S	TTC8_ENST00000358622.5_Missense_Mutation_p.N228S|TTC8_ENST00000346301.4_Missense_Mutation_p.N386S|TTC8_ENST00000536576.1_Missense_Mutation_p.N187S|TTC8_ENST00000380656.2_Missense_Mutation_p.N426S|TTC8_ENST00000354441.6_Missense_Mutation_p.N161S|TTC8_ENST00000345383.5_Missense_Mutation_p.N416S			Q8TAM2	TTC8_HUMAN	tetratricopeptide repeat domain 8	452					cilium assembly|establishment of anatomical structure orientation|sensory processing	BBSome|centrosome|cilium membrane|microtubule basal body	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|prostate(1)	15						GCTCTGGTCAACAACAACAAC	0.537													G	89338726	A	G	89338726	3	3	371	1	0	0	0	0	1	0	0	0	16816	43	2	3	1327	3	TTC8	14	89338726	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	68100280	89338726	18010814	34	39473											
E4F1	1877	broad.mit.edu	37	chr16	2279638	2279638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcgtggtggaggcggcctCtctggcagcagacatcagcc	7	7	14	13	2	2	1	1	0	1	1	4	2	2	2	2	5	2	2	2	5	0	0			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:2279638C>T	ENST00000301727.4	+	3	425	c.377C>T	c.(376-378)tCt>tTt	p.S126F	E4F1_ENST00000564139.1_Missense_Mutation_p.S126F|E4F1_ENST00000565090.1_Missense_Mutation_p.S126F	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	126					cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						GAGGCGGCCTCTCTGGCAGCA	0.617													T	2279638	C	T	2279638	3	4	371	1	0	0	0	0	1	0	0	0	4913	913	32	2	387	2	E4F1	16	2279638	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		2279638	88075115	35	39474											
CCDC113	29070	broad.mit.edu	37	chr16	58292428	58292428	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggacatgaaccgccggaggGtaagttggcagacagagctt	12	6	15	8	2	0	3	0	1	0	2	0	5	0	5	2	4	2	4	2	4	2	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:58292428G>A	ENST00000219299.4	+	4	625		c.e4+1		CCDC113_ENST00000443128.2_Splice_Site	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113							protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CCGCCGGAGGGTAAGTTGGCA	0.418													A	58292428	G	A	58292428	5	1	371	1	0	0	0	0	0	0	1	0	2776	1275	44	2	561	2	CCDC113	16	58292428	Splice_Site	SNP	G	TCGA-DU-6400-01A-12D-1705-08	56012790	58292428	32062325	36	39475											
SF3B3	23450	broad.mit.edu	37	chr16	70601345	70601345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaggtccctgctgctattgCcccattccaggggagggtgt	6	10	14	11	0	0	1	0	0	0	1	2	2	2	2	4	4	3	2	4	4	1	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr16:70601345C>T	ENST00000302516.5	+	21	3069	c.2858C>T	c.(2857-2859)gCc>gTc	p.A953V		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	953					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding	p.A953V(1)		breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				GCTGCTATTGCCCCATTCCAG	0.493													T	70601345	C	T	70601345	3	4	371	1	0	0	0	0	1	0	0	0	14245	739	26	2	2936	2	SF3B3	16	70601345	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	12308917	70601345	19753408	37	39476											
MYH1	4619	broad.mit.edu	37	chr17	10404045	10404045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actcagttgatcttctagagCgcggcacatcttttcaaggt	9	13	9	10	2	5	2	2	1	3	1	5	2	5	2	0	2	1	2	0	2	2	5	rs142605633		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:10404045C>T	ENST00000226207.5	-	28	3857	c.3763G>A	c.(3763-3765)Gct>Act	p.A1255T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1255						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.A1255T(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTCTAGAGCGCGGCACATC	0.453													T	10404045	C	T	10404045	3	4	371	1	0	0	0	0	1	0	0	0	10105	768	27	1	2108	1	MYH1	17	10404045	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08		10404045	70791165	38	39477											
DLX4	1748	broad.mit.edu	37	chr17	48051291	48051291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctcagatgtcctggcttCgcctcagatgatgtgaatct	7	13	9	12	1	3	4	2	2	1	2	6	4	5	4	3	1	0	1	3	1	1	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:48051291C>T	ENST00000240306.3	+	3	1002	c.707C>T	c.(706-708)tCg>tTg	p.S236L	DLX4_ENST00000411890.2_Missense_Mutation_p.S164L	NM_138281.2	NP_612138.1	Q92988	DLX4_HUMAN	distal-less homeobox 4	236					multicellular organismal development	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S236L(1)		central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(3)	10						GTCCTGGCTTCGCCTCAGATG	0.617													T	48051291	C	T	48051291	3	4	371	1	0	0	0	0	1	0	0	0	4612	893	31	1	784	1	DLX4	17	48051291	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	37647246	48051291	33143919	39	39478											
ABCA6	23460	broad.mit.edu	37	chr17	67080415	67080415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcaccacatttgctgctGccctgtggggtctatgcccg	4	12	11	14	1	2	0	1	0	1	0	2	0	2	0	3	2	5	3	3	2	1	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr17:67080415G>C	ENST00000284425.2	-	34	4516	c.4342C>G	c.(4342-4344)Cag>Gag	p.Q1448E	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1448	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ATTTGCTGCTGCCCTGTGGGG	0.483													C	67080415	G	C	67080415	3	2	371	1	0	0	0	0	1	0	0	0	36	1328	46	4	535	4	ABCA6	17	67080415	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	19029124	67080415	14114795	40	39479											
PLIN4	729359	broad.mit.edu	37	chr19	4511137	4511137	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtccacacctgtctggacGgtccctttggccacatttac	6	12	9	14	1	1	0	0	0	1	0	3	1	3	1	4	3	1	0	4	3	1	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:4511137G>A	ENST00000301286.3	-	3	2792	c.2793C>T	c.(2791-2793)acC>acT	p.T931T		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	931	27 X 33 AA approximate tandem repeat.					lipid particle|plasma membrane				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CTGTCTGGACGGTCCCTTTGG	0.597													A	4511137	G	A	4511137	2	1	371	1	0	0	0	0	0	0	0	1	12169	1103	39	1		1	PLIN4	19	4511137	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08		4511137	54617846	41	39480											
ACTL9	284382	broad.mit.edu	37	chr19	8808420	8808420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcgtggagcaggttgtagCcctggaagacgggcactgtg	7	8	18	8	2	0	1	0	0	0	1	0	3	0	3	1	5	2	4	1	5	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:8808420C>T	ENST00000324436.3	-	1	752	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	211						cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						CAGGTTGTAGCCCTGGAAGAC	0.682													T	8808420	C	T	8808420	3	4	371	1	0	0	0	0	1	0	0	0	203	739	26	2	622	2	ACTL9	19	8808420	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	4297283	8808420	50320563	42	39481											
CIC	23152	broad.mit.edu	37	chr19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaggaccacatccggcggCccatgaatgccttcatgatc	11	7	10	13	2	1	3	1	2	0	1	3	4	2	4	4	3	1	0	4	3	2	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42791721C>T	ENST00000572681.2	+	6	3402	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	CIC_ENST00000160740.3_Missense_Mutation_p.P203S|CIC_ENST00000575354.2_Missense_Mutation_p.P203S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCCGGCGGCCCATGAATGC	0.627			"Mis, F, S"		oligodendroglioma								T	42791721	C	T	42791721	3	4	371	1	0	0	0	0	1	0	0	0	3454	739	26	2	625	2	CIC	19	42791721	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	33983301	42791721	16337262	43	39482											
CIC	23152	broad.mit.edu	37	chr19	42793381	42793381	+	Frame_Shift_Del	DEL	T	T	-																															gcccaaagccttctacccagTatggagctccaggacccttt																										TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:42793381delT	ENST00000572681.2	+	9	3978	c.3910delT	c.(3910-3912)tatfs	p.Y1304fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.Y395fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.Y395fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCTACCCAGTATGGAGCTCC	0.657			"Mis, F, S"		oligodendroglioma								-	42793381	T	-	42793381	7	5	371	1	0	1	0	1	0	0	0	0	3454	1638	57	0	1213	0	CIC	19	42793381	Frame_Shift_Del	DEL	T	TCGA-DU-6400-01A-12D-1705-08	1660	42793381	16335602	44	39483											
LILRB5	10990	broad.mit.edu	37	chr19	54754838	54754839	+	Frame_Shift_Ins	INS	-	-	G																															gtaaggaacgtggtgggggtINSggggaggcctgggggcctgg																								rs11375503		TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr19:54754838_54754839insG	ENST00000450632.1	-	13	1873_1874	c.1796_1797insC	c.(1795-1797)ccafs	p.P599fs	LILRB5_ENST00000449561.2_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000345866.6_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	424					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGGTGGGGGTGGGGAGGCCTG	0.604													G	54754839	-	G	54754838	7	5	371	1	0	1	1	0	0	0	0	0	8854	1711	59	0		0	LILRB5	19	54754838	Frame_Shift_Ins	INS	-	TCGA-DU-6400-01A-12D-1705-08	11961457	54754838	4374145	45	39484											
BAGE2	85319	broad.mit.edu	37	chr21	11058337	11058337	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacatcgctgaaaggggtaaAggagagaaatctctttataa	16	9	10	6	1	1	2	0	1	1	1	3	4	1	3	0	3	0	2	0	3	6	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chr21:11058337A>G	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAAGGGGTAAAGGAGAGAAAT	0.368													G	11058337	A	G	11058337	1	3	371	0	1	0	0	0	0	0	0	0	1297	87	3	3		3	BAGE2	21	11058337	RNA	SNP	A	TCGA-DU-6400-01A-12D-1705-08		11058337	37071558	46	39485											
ZBED1	9189	broad.mit.edu	37	chrX	2407265	2407265	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggcccttggcctctTccaccacgcgattctccacc	6	8	7	20	2	2	0	0	0	2	0	4	1	3	0	7	2	1	1	7	2	0	3			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:2407265T>A	ENST00000381223.4	-	2	1699	c.1496A>T	c.(1495-1497)gAa>gTa	p.E499V	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E499V|ZBED1_ENST00000381218.3_Missense_Mutation_p.E499V	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	499						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTTGGCCTCTTCCACCACGCG	0.637													A	2407265	T	A	2407265	3	1	371	1	0	0	0	0	1	0	0	0	17619	1783	62	5	592	5	ZBED1	23	2407265	Missense_Mutation	SNP	T	TCGA-DU-6400-01A-12D-1705-08		2407265	152863295	47	39486											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998600	27998600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtgggcaggtcccctgtgCttggccacacgcttagtatt	5	12	12	12	2	0	0	0	0	0	0	2	0	1	0	3	3	1	4	3	3	2	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:27998600C>A	ENST00000441525.1	-	1	966	c.852G>T	c.(850-852)aaG>aaT	p.K284N		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	284										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						GTCCCCTGTGCTTGGCCACAC	0.517													A	27998600	C	A	27998600	3	1	371	1	0	0	0	0	1	0	0	0	4311	796	28	4	954	4	DCAF8L1	23	27998600	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	25591335	27998600	127271960	48	39487											
WAS	7454	broad.mit.edu	37	chrX	48542340	48542340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggaccacgagaaccAgcgactctttgagatgcttg	10	8	10	13	2	1	2	0	1	1	2	2	6	2	3	4	1	3	1	4	1	1	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:48542340A>G	ENST00000376701.4	+	1	173	c.98A>G	c.(97-99)cAg>cGg	p.Q33R	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	33					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				CACGAGAACCAGCGACTCTTT	0.622			"Mis, N, F, S"			lymphoma							G	48542340	A	G	48542340	3	3	371	1	0	0	0	0	1	0	0	0	17353	188	7	3	100	3	WAS	23	48542340	Missense_Mutation	SNP	A	TCGA-DU-6400-01A-12D-1705-08	20543740	48542340	106728220	49	39488											
NUDT10	170685	broad.mit.edu	37	chrX	51075880	51075880	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcaagaagcgggcggcGtgcctgtgcttccggagcga	6	7	18	10	5	1	1	1	0	0	1	2	3	2	2	2	4	4	2	2	4	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:51075880G>A	ENST00000376006.3	+	2	283	c.63G>A	c.(61-63)gcG>gcA	p.A21A	NUDT10_ENST00000356450.2_Silent_p.A21A	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	21	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					AGCGGGCGGCGTGCCTGTGCT	0.672													A	51075880	G	A	51075880	2	1	371	1	0	0	0	0	0	0	0	1	10802	1132	40	1		1	NUDT10	23	51075880	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	2533540	51075880	104194680	50	39489											
ZC3H12B	340554	broad.mit.edu	37	chrX	64721755	64721755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcggtggctgatgagctcCgcatcagtgccaaactgtcc	7	10	12	12	2	1	2	1	2	0	0	4	2	3	2	3	2	3	4	3	2	1	1			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:64721755C>T	ENST00000338957.4	+	5	1244	c.1177C>T	c.(1177-1179)Cgc>Tgc	p.R393C	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.R382C	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	382							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						TGATGAGCTCCGCATCAGTGC	0.522													T	64721755	C	T	64721755	3	4	371	1	0	0	0	0	1	0	0	0	17663	652	23	1	1195	1	ZC3H12B	23	64721755	Missense_Mutation	SNP	C	TCGA-DU-6400-01A-12D-1705-08	13645875	64721755	90548805	51	39490											
PCDH11X	27328	broad.mit.edu	37	chrX	91090710	91090710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagctagtgtacaagacCggagatgtgccactgattcg	11	10	11	9	2	1	3	1	1	0	2	2	4	1	3	2	1	3	2	2	1	4	4			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:91090710C>T	ENST00000373094.1	+	1	1052	c.207C>T	c.(205-207)acC>acT	p.T69T	PCDH11X_ENST00000373088.1_Silent_p.T69T|PCDH11X_ENST00000504220.2_Silent_p.T69T|PCDH11X_ENST00000361724.1_Silent_p.T69T|PCDH11X_ENST00000361655.2_Silent_p.T69T|PCDH11X_ENST00000395337.2_Silent_p.T69T|PCDH11X_ENST00000298274.8_Silent_p.T69T|PCDH11X_ENST00000373097.1_Silent_p.T69T|PCDH11X_ENST00000406881.1_Silent_p.T69T	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	69	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						TGTACAAGACCGGAGATGTGC	0.458													T	91090710	C	T	91090710	2	4	371	1	0	0	0	0	0	0	0	1	11584	639	23	1		1	PCDH11X	23	91090710	Silent	SNP	C	TCGA-DU-6400-01A-12D-1705-08	26368955	91090710	64179850	52	39491											
TBC1D8B	54885	broad.mit.edu	37	chrX	106046201	106046201	+	Frame_Shift_Del	DEL	G	G	-																															gctacggggaggaaggcggaGgggggctcacaggtaagctg																										TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:106046201delG	ENST00000357242.5	+	1	292	c.118delG	c.(118-120)gggfs	p.G41fs	TBC1D8B_ENST00000481617.2_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.G41fs|TBC1D8B_ENST00000310452.2_Frame_Shift_Del_p.G41fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	41						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GGAAGGCGGAGGGGGGCTCAC	0.577													-	106046201	G	-	106046201	7	5	371	1	0	1	0	1	0	0	0	0	15726	1000	35	0	120	0	TBC1D8B	23	106046201	Frame_Shift_Del	DEL	G	TCGA-DU-6400-01A-12D-1705-08	14955491	106046201	49224359	53	39492											
RGAG1	57529	broad.mit.edu	37	chrX	109696415	109696415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagatccacagcctctggagGgatgtccatgccactgatga	11	8	11	11	0	1	3	0	2	1	1	3	5	3	5	4	2	2	0	4	2	1	0			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:109696415G>A	ENST00000465301.2	+	3	2816	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	RGAG1_ENST00000540313.1_Missense_Mutation_p.G857E	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	857										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GCCTCTGGAGGGATGTCCATG	0.527													A	109696415	G	A	109696415	3	1	371	1	0	0	0	0	1	0	0	0	13362	1232	43	2	2572	2	RGAG1	23	109696415	Missense_Mutation	SNP	G	TCGA-DU-6400-01A-12D-1705-08	3650214	109696415	45574145	54	39493											
GPR112	139378	broad.mit.edu	37	chrX	135405538	135405538	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcatcccaactgttgacagGacactgcgctgctgtgagta	10	10	10	11	1	1	2	1	2	0	0	2	3	2	3	1	1	3	4	1	1	2	2			TCGA-DU-6400-01A-12D-1705-08	TCGA-DU-6400-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	44fb8d94-aa0a-4da3-bf17-322889da1fb2	e2693558-ff23-4532-9d26-b6fe815e9934	g.chrX:135405538G>A	ENST00000394143.1	+	5	963	c.672G>A	c.(670-672)agG>agA	p.R224R	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000287534.4_Silent_p.R161R|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.R224R	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	224					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CTGTTGACAGGACACTGCGCT	0.433													A	135405538	G	A	135405538	2	1	371	1	0	0	0	0	0	0	0	1	6683	1165	41	2		2	GPR112	23	135405538	Silent	SNP	G	TCGA-DU-6400-01A-12D-1705-08	25709123	135405538	19865022	55	39494											
C1orf174	339448	broad.mit.edu	37	chr1	3809463	3809463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaccagacatgctgtcttgGcagacgtggaaccagcaact	11	8	10	12	1	2	2	1	0	1	2	2	3	2	3	2	2	4	3	2	2	2	1			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:3809463G>A	ENST00000361605.3	-	2	211	c.113C>T	c.(112-114)gCc>gTc	p.A38V	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	38										endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		TGCTGTCTTGGCAGACGTGGA	0.542													A	3809463	G	A	3809463	3	1	372	1	0	0	0	0	1	0	0	0	2035	1203	42	2	630	2	C1orf174	1	3809463	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		3809463	245441158	1	39495											
DHDDS	79947	broad.mit.edu	37	chr1	26772898	26772898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagctgattgcacaagctGtacaggccacgaagaactac	14	6	11	10	1	0	2	0	1	0	1	0	4	0	3	1	2	6	4	1	2	5	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr1:26772898G>A	ENST00000360009.2	+	5	492	c.415G>A	c.(415-417)Gta>Ata	p.V139I	DHDDS_ENST00000374185.3_Missense_Mutation_p.V139I|DHDDS_ENST00000525682.2_Missense_Mutation_p.V139I|DHDDS_ENST00000236342.7_Missense_Mutation_p.V139I|DHDDS_ENST00000526219.1_Intron|DHDDS_ENST00000427245.2_Missense_Mutation_p.V139I	NM_024887.3|NM_205861.2	NP_079163.2|NP_995583.1	Q86SQ9	DHDDS_HUMAN	dehydrodolichyl diphosphate synthase	139							protein binding|transferase activity, transferring alkyl or aryl (other than methyl) groups			breast(5)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	15		all_cancers(24;2.04e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.0161)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.166)|LUSC - Lung squamous cell carcinoma(448;0.239)		TGCACAAGCTGTACAGGCCAC	0.517													A	26772898	G	A	26772898	3	1	372	1	0	0	0	0	1	0	0	0	4517	1377	48	2	429	2	DHDDS	1	26772898	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	22963435	26772898	222477723	2	39496											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	372	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		209113113	34086260	3	39497											
SLIT2	9353	broad.mit.edu	37	chr4	20490510	20490510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccgactggcttcgccaaaGgcctcgggttggtctgtaca	6	10	12	13	3	1	0	0	0	1	0	4	1	2	0	3	4	1	3	3	4	2	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr4:20490510G>A	ENST00000504154.1	+	8	932	c.680G>A	c.(679-681)aGg>aAg	p.R227K	SLIT2_ENST00000503823.1_Missense_Mutation_p.R227K|SLIT2_ENST00000273739.5_Missense_Mutation_p.R227K|SLIT2_ENST00000503837.1_Missense_Mutation_p.R227K	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	227	LRRCT 1.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CTTCGCCAAAGGCCTCGGGTT	0.498													A	20490510	G	A	20490510	3	1	372	1	0	0	0	0	1	0	0	0	14834	1000	35	2	710	2	SLIT2	4	20490510	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		20490510	170663766	4	39498											
PRPH2	5961	broad.mit.edu	37	chr6	42690067	42690067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacttgactttcagtagCgccatgcttgccaagtgtag	10	12	9	10	1	2	1	2	1	0	0	2	1	2	1	2	0	4	3	2	0	4	5			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:42690067C>T	ENST00000230381.5	-	1	245	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000322.4	NP_000313.2	P23942	PRPH2_HUMAN	peripherin 2 (retinal degeneration, slow)	2					cell adhesion|visual perception	integral to membrane				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	18	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.00178)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.0904)			CTTTCAGTAGCGCCATGCTTG	0.552													T	42690067	C	T	42690067	2	4	372	1	0	0	0	0	0	0	0	1	12663	755	27	1		1	PRPH2	6	42690067	Silent	SNP	C	TCGA-DU-6401-01A-11D-1705-08		42690067	128425000	5	39499											
LAMA2	3908	broad.mit.edu	37	chr6	129419503	129419503	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgtcatatgccaaagaTgatgaggtcatctgcacttc	11	10	8	12	1	3	3	2	2	1	1	4	3	3	3	3	1	2	1	3	1	2	2			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:129419503T>C	ENST00000421865.2	+	4	631	c.582T>C	c.(580-582)gaT>gaC	p.D194D		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	194	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATGCCAAAGATGATGAGGTCA	0.443													C	129419503	T	C	129419503	2	2	372	1	0	0	0	0	0	0	0	1	8665	1461	51	3		3	LAMA2	6	129419503	Silent	SNP	T	TCGA-DU-6401-01A-11D-1705-08	86729436	129419503	41695564	6	39500											
TNFAIP3	7128	broad.mit.edu	37	chr6	138199814	138199814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatgagtgctcagagaggcGgcaaaagaatcaaaacaaac	18	4	10	9	1	2	3	2	1	0	2	2	4	2	3	1	2	3	2	1	2	6	0			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:138199814G>A	ENST00000237289.4	+	7	1298	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	411	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		TCAGAGAGGCGGCAAAAGAAT	0.557			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								A	138199814	G	A	138199814	3	1	372	1	0	0	0	0	1	0	0	0	16374	1116	39	1	1254	1	TNFAIP3	6	138199814	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	8780311	138199814	32915253	7	39501											
SMOC2	64094	broad.mit.edu	37	chr6	168947817	168947817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgatgccgcagctccagCgttggagactcagcctcaag	10	7	12	12	2	2	3	2	1	0	2	3	4	3	3	3	1	4	3	3	1	1	1			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr6:168947817C>A	ENST00000354536.5	+	6	783	c.563C>A	c.(562-564)gCg>gAg	p.A188E	SMOC2_ENST00000356284.2_Missense_Mutation_p.A177E	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	177					signal transduction	basement membrane	calcium ion binding	p.A188G(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		GCAGCTCCAGCGTTGGAGACT	0.522													A	168947817	C	A	168947817	3	1	372	1	0	0	0	0	1	0	0	0	14896	768	27	4	585	4	SMOC2	6	168947817	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	30748003	168947817	2167250	8	39502											
PTCD1	26024	broad.mit.edu	37	chr7	99026819	99026819	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgaccacgtgccctttgtgGatgatttcctgggggaggga	6	11	16	8	1	0	2	0	2	0	0	1	5	1	5	3	4	1	0	3	4	0	2			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr7:99026819G>A	ENST00000292478.4	-	5	1072	c.822C>T	c.(820-822)atC>atT	p.I274I	ATP5J2-PTCD1_ENST00000413834.1_Silent_p.I323I|PTCD1_ENST00000555673.1_Silent_p.I323I|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GCCCTTTGTGGATGATTTCCT	0.557													A	99026819	G	A	99026819	2	1	372	1	0	0	0	0	0	0	0	1	12812	1164	41	2		2	PTCD1	7	99026819	Silent	SNP	G	TCGA-DU-6401-01A-11D-1705-08		99026819	60111844	9	39503											
ESCO2	157570	broad.mit.edu	37	chr8	27634263	27634266	+	Frame_Shift_Del	DEL	TAAG	TAAG	-																															ccacagaagagtttaactgcTaagtatcaaccaaagtatag																										TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:27634263_27634266delTAAG	ENST00000305188.8	+	3	676_679	c.438_441delTAAG	c.(436-441)gctaagfs	p.AK146fs	ESCO2_ENST00000397418.2_5'UTR|ESCO2_ENST00000523910.1_3'UTR	NM_001017420.2	NP_001017420.1	Q56NI9	ESCO2_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 2	146					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(32;0.000953)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|KIRC - Kidney renal clear cell carcinoma(542;0.0955)|Kidney(114;0.115)|Colorectal(74;0.132)		GTTTAACTGCTAAGTATCAACCAA	0.353									SC Phocomelia syndrome				-	27634266	TAAG	-	27634263	7	5	372	1	0	1	0	1	0	0	0	0	5290	1509	53	0	444	0	ESCO2	8	27634263	Frame_Shift_Del	DEL	TAAG	TCGA-DU-6401-01A-11D-1705-08		27634263	118729759	10	39504											
ENPP2	5168	broad.mit.edu	37	chr8	120596283	120596283	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtttcttataaacatccaaAggtttcctaaattgaaacaa	16	13	5	7	0	1	1	0	1	1	0	3	1	3	1	2	2	2	2	2	2	8	6			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr8:120596283A>G	ENST00000427067.2	-	16	1542	c.1362T>C	c.(1360-1362)ccT>ccC	p.P454P	ENPP2_ENST00000075322.6_Silent_p.P458P|ENPP2_ENST00000259486.6_Silent_p.P510P|ENPP2_ENST00000522826.1_Silent_p.P458P|ENPP2_ENST00000522167.1_Silent_p.P97P			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	458					cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AAACATCCAAAGGTTTCCTAA	0.348													G	120596283	A	G	120596283	2	3	372	1	0	0	0	0	0	0	0	1	5171	59	3	3		3	ENPP2	8	120596283	Silent	SNP	A	TCGA-DU-6401-01A-11D-1705-08	92962020	120596283	25767739	11	39505											
KCNT1	57582	broad.mit.edu	37	chr9	138657002	138657002	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagatcgaccttctcatGgacttcctgaacgagttcta	10	12	7	12	2	3	2	2	1	2	1	6	5	4	3	2	1	1	1	2	1	3	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr9:138657002G>T	ENST00000298480.5	+	12	1235	c.1161G>T	c.(1159-1161)atG>atT	p.M387I	KCNT1_ENST00000263604.3_Missense_Mutation_p.M368I|KCNT1_ENST00000486577.2_Missense_Mutation_p.M348I|KCNT1_ENST00000371757.2_Missense_Mutation_p.M387I|KCNT1_ENST00000490355.2_Missense_Mutation_p.M368I|KCNT1_ENST00000491806.2_Missense_Mutation_p.M354I|KCNT1_ENST00000487664.1_Missense_Mutation_p.M342I|KCNT1_ENST00000488444.2_Missense_Mutation_p.M368I			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	387						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		ACCTTCTCATGGACTTCCTGA	0.642													T	138657002	G	T	138657002	3	4	372	1	0	0	0	0	1	0	0	0	8149	1348	47	4	1207	4	KCNT1	9	138657002	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		138657002	2556429	12	39506											
SLCO1B1	10599	broad.mit.edu	37	chr12	21329781	21329781	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccttatccacttgtttaaTtaatcaaattttatcactca	13	17	2	9	0	3	0	3	0	0	0	4	1	4	0	2	0	0	1	2	0	5	7			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:21329781T>C	ENST00000256958.2	+	5	527	c.431T>C	c.(430-432)aTt>aCt	p.I144T		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	144					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTTGTTTAATTAATCAAATT	0.274													C	21329781	T	C	21329781	3	2	372	1	0	0	0	0	1	0	0	0	14817	1493	52	3	445	3	SLCO1B1	12	21329781	Missense_Mutation	SNP	T	TCGA-DU-6401-01A-11D-1705-08		21329781	112522114	13	39507											
DDX55	57696	broad.mit.edu	37	chr12	124101060	124101060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttttctcatttcctagtgGgattttagtgtgcactgatg	6	20	9	6	0	1	1	1	1	1	0	3	2	2	2	1	1	1	1	1	1	2	7			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr12:124101060G>T	ENST00000238146.4	+	10	1009	c.959G>T	c.(958-960)gGg>gTg	p.G320V	DDX55_ENST00000541259.1_3'UTR|DDX55_ENST00000538744.1_Intron	NM_020936.1	NP_065987.1	Q8NHQ9	DDX55_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 55	320	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	14	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000142)|Epithelial(86;0.000637)|all cancers(50;0.00772)		TTTCCTAGTGGGATTTTAGTG	0.473													T	124101060	G	T	124101060	3	4	372	1	0	0	0	0	1	0	0	0	4407	1232	43	4	997	4	DDX55	12	124101060	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	102771279	124101060	9750835	14	39508											
ZFYVE26	23503	broad.mit.edu	37	chr14	68251787	68251787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacctaccaggctcagagCtcaaactttgaaggagaact	13	8	9	11	0	2	3	2	1	0	2	2	4	2	3	2	2	5	3	2	2	5	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:68251787C>T	ENST00000347230.4	-	19	3650	c.3512G>A	c.(3511-3513)aGc>aAc	p.S1171N	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.S1171N	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	1171					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		AGGCTCAGAGCTCAAACTTTG	0.502													T	68251787	C	T	68251787	3	4	372	1	0	0	0	0	1	0	0	0	17769	797	28	2	4203	2	ZFYVE26	14	68251787	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08		68251787	39097753	15	39509											
DYNC1H1	1778	broad.mit.edu	37	chr14	102508452	102508452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacacgcagatcacttcaAttgcaatcggtaaggatgct	14	9	9	9	2	2	2	2	0	0	2	3	3	2	3	0	2	3	4	0	2	4	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr14:102508452A>G	ENST00000360184.4	+	66	12369	c.12205A>G	c.(12205-12207)Att>Gtt	p.I4069V	RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4069	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GATCACTTCAATTGCAATCGG	0.537													G	102508452	A	G	102508452	3	3	372	1	0	0	0	0	1	0	0	0	4880	101	4	3	12467	3	DYNC1H1	14	102508452	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	34256665	102508452	4841088	16	39510											
XPO6	23214	broad.mit.edu	37	chr16	28137080	28137080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataaagtactcggccaggcGgcccacggcctgcagcaggg	9	4	15	13	3	0	0	0	0	0	0	1	1	0	0	3	5	3	3	3	5	3	2			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:28137080G>A	ENST00000304658.5	-	13	2196	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	XPO6_ENST00000565698.1_Missense_Mutation_p.R552C	NM_015171.3	NP_055986.1	Q96QU8	XPO6_HUMAN	exportin 6	566					protein export from nucleus		protein binding|protein transporter activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	25						TCGGCCAGGCGGCCCACGGCC	0.582													A	28137080	G	A	28137080	3	1	372	1	0	0	0	0	1	0	0	0	17550	1116	39	1	1729	1	XPO6	16	28137080	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		28137080	62217673	17	39511											
ITGAD	3681	broad.mit.edu	37	chr16	31419095	31419095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgctgcaggtgggacaCgctttccagggacccactgc	6	9	12	14	1	1	0	0	0	1	0	3	2	2	2	2	3	3	3	2	3	0	1			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr16:31419095C>T	ENST00000389202.2	+	9	916	c.867C>T	c.(865-867)caC>caT	p.H289H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	289	VWFA.				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						AGGTGGGACACGCTTTCCAGG	0.617													T	31419095	C	T	31419095	2	4	372	1	0	0	0	0	0	0	0	1	7942	535	19	1		1	ITGAD	16	31419095	Silent	SNP	C	TCGA-DU-6401-01A-11D-1705-08	3282015	31419095	58935658	18	39512											
TP53	7157	broad.mit.edu	37	chr17	7574018	7574018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcggaacatctcgaagcGctcacgcccacggatctgca	9	7	9	16	5	4	0	1	0	3	0	6	3	4	2	1	2	3	2	1	2	2	0			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:7574018G>A	ENST00000269305.4	-	10	1198	c.1009C>T	c.(1009-1011)Cgc>Tgc	p.R337C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R337C|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	337	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (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.R337C(18)|p.0?(8)|p.R337fs*8(2)|p.R337G(1)|p.?(1)|p.I332fs*5(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)		ATCTCGAAGCGCTCACGCCCA	0.522		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)			A	7574018	G	A	7574018	3	1	372	1	0	0	0	0	1	0	0	0	16482	1087	38	1	180	1	TP53	17	7574018	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		7574018	73621192	19	39513											
MYH4	4622	broad.mit.edu	37	chr17	10350460	10350460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgcatcaggttagctctgCgctcaaccattgccagttgt	7	12	9	13	1	3	0	2	0	1	0	3	0	3	0	3	1	5	5	3	1	2	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:10350460C>T	ENST00000255381.2	-	35	5149	c.5039G>A	c.(5038-5040)cGc>cAc	p.R1680H	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1680					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GTTAGCTCTGCGCTCAACCAT	0.502													T	10350460	C	T	10350460	3	4	372	1	0	0	0	0	1	0	0	0	10113	768	27	1	804	1	MYH4	17	10350460	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	2776442	10350460	70844750	20	39514											
MAP2K3	5606	broad.mit.edu	37	chr17	21217496	21217496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcacaaaaccaagaagaCggacattgctgccttcgtga	13	8	9	11	2	0	3	0	1	0	2	1	4	0	4	2	1	4	2	2	1	4	3	rs35755743		TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:21217496C>T	ENST00000342679.4	+	12	1247	c.998C>T	c.(997-999)aCg>aTg	p.T333M	MAP2K3_ENST00000316920.6_Missense_Mutation_p.T304M|MAP2K3_ENST00000361818.5_Missense_Mutation_p.T304M	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	333					activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		ACCAAGAAGACGGACATTGCT	0.617													T	21217496	C	T	21217496	3	4	372	1	0	0	0	0	1	0	0	0	9313	536	19	1	1044	1	MAP2K3	17	21217496	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	10867036	21217496	59977714	21	39515											
TMC6	11322	broad.mit.edu	37	chr17	76116777	76116777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtccagcaacatgaggaCgaagtccatcaccaggaacc	13	5	10	13	2	1	1	1	1	0	0	3	4	3	3	4	2	3	1	4	2	3	0			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr17:76116777C>T	ENST00000590602.1	-	13	1831	c.1672G>A	c.(1672-1674)Gtc>Atc	p.V558I	TMC6_ENST00000306591.7_Intron|TMC6_ENST00000592076.1_Intron|TMC6_ENST00000392467.3_Missense_Mutation_p.V558I|TMC6_ENST00000322914.3_Missense_Mutation_p.V558I|TMC6_ENST00000322933.4_Intron|TMC6_ENST00000591436.1_Intron|TMC6_ENST00000589553.1_3'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	558						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AACATGAGGACGAAGTCCATC	0.637													T	76116777	C	T	76116777	3	4	372	1	0	0	0	0	1	0	0	0	16089	536	19	1	777	1	TMC6	17	76116777	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	54899281	76116777	5078433	22	39516											
CEACAM5	1048	broad.mit.edu	37	chr19	42224879	42224879	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatttcccccccagactcGtcttacctttcgggagcgaa	8	11	7	15	3	2	1	1	0	1	1	5	3	3	2	4	1	2	0	4	1	2	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr19:42224879G>A	ENST00000221992.6	+	8	1923	c.1809G>A	c.(1807-1809)tcG>tcA	p.S603S	CEACAM5_ENST00000405816.1_Silent_p.S603S|CEA_ENST00000598976.1_Intron|CEACAM5_ENST00000398599.4_Silent_p.S602S	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	603	Ig-like 7.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		CCCCAGACTCGTCTTACCTTT	0.547													A	42224879	G	A	42224879	2	1	372	1	0	0	0	0	0	0	0	1	3225	1132	40	1		1	CEACAM5	19	42224879	Silent	SNP	G	TCGA-DU-6401-01A-11D-1705-08		42224879	16904104	23	39517											
CELSR1	9620	broad.mit.edu	37	chr22	46929726	46929726	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggggaaactgttggacttGttggtgacatagttgttgaa	9	14	15	3	0	0	2	0	2	0	0	0	4	0	4	0	4	1	4	0	4	3	6			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chr22:46929726G>C	ENST00000262738.3	-	1	3341	c.3342C>G	c.(3340-3342)aaC>aaG	p.N1114K	CELSR1_ENST00000395964.1_Missense_Mutation_p.N1114K|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1114	Cadherin 9.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGTTGGACTTGTTGGTGACAT	0.592													C	46929726	G	C	46929726	3	2	372	1	0	0	0	0	1	0	0	0	3251	1368	48	4	5842	4	CELSR1	22	46929726	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		46929726	4374840	24	39518											
CXorf23	256643	broad.mit.edu	37	chrX	19983583	19983583	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatccaagagcttaggacGtttgtgacgatagtcatagg	11	10	11	9	2	1	2	1	1	0	1	2	4	2	3	2	2	1	2	2	2	4	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:19983583G>T	ENST00000379687.3	-	3	886	c.853C>A	c.(853-855)Cgt>Agt	p.R285S	CXorf23_ENST00000356980.3_Missense_Mutation_p.R285S|CXorf23_ENST00000379682.4_Missense_Mutation_p.R285S	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	285						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AGCTTAGGACGTTTGTGACGA	0.458													T	19983583	G	T	19983583	3	4	372	1	0	0	0	0	1	0	0	0	4136	1145	40	4	1231	4	CXorf23	23	19983583	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08		19983583	135286977	25	39519											
HDAC6	10013	broad.mit.edu	37	chrX	48682452	48682452	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggaacaatccaagagAattgggtgtgtctctcttgc	10	12	11	8	0	2	1	0	0	2	1	4	3	3	2	1	2	2	0	1	2	4	2			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:48682452A>G	ENST00000334136.5	+	27	3602	c.3424A>G	c.(3424-3426)Aat>Gat	p.N1142D	HDAC6_ENST00000376619.2_Missense_Mutation_p.N1142D|HDAC6_ENST00000444343.2_Missense_Mutation_p.N1156D			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1142					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	AATCCAAGAGAATTGGGTGTG	0.592													G	48682452	A	G	48682452	3	3	372	1	0	0	0	0	1	0	0	0	7066	246	9	3	3526	3	HDAC6	23	48682452	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	28698869	48682452	106588108	26	39520											
ATRX	546	broad.mit.edu	37	chrX	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T																															ttggctgtggtctcaatcagINStttttttgccttcttaatca																										TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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)	GTCTCAATCAGTTTTTTTGCCT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939674	-	T	76939673	7	5	372	1	0	1	1	0	0	0	0	0	1213	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-DU-6401-01A-11D-1705-08	28257221	76939673	78330887	27	39521											
LPAR4	2846	broad.mit.edu	37	chrX	78010568	78010568	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgtcttctgtttccgcAtgaaaatgagaagtgagact	10	15	10	6	1	2	3	0	3	2	2	3	5	3	3	1	0	0	3	1	0	3	3			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:78010568A>G	ENST00000435339.3	+	2	588	c.202A>G	c.(202-204)Atg>Gtg	p.M68V		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4							integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						CTGTTTCCGCATGAAAATGAG	0.358													G	78010568	A	G	78010568	3	3	372	1	0	0	0	0	1	0	0	0	8977	217	8	3	204	3	LPAR4	23	78010568	Missense_Mutation	SNP	A	TCGA-DU-6401-01A-11D-1705-08	1070895	78010568	77259992	28	39522											
GLUD2	2747	broad.mit.edu	37	chrX	120182836	120182836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatctctacttgaatgctgGaggagtgacagtatcttact	11	13	10	7	0	2	3	0	2	2	1	3	5	2	5	0	2	3	2	0	2	4	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:120182836G>A	ENST00000328078.1	+	1	1375	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	433					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TTGAATGCTGGAGGAGTGACA	0.418													A	120182836	G	A	120182836	3	1	372	1	0	0	0	0	1	0	0	0	6533	1174	41	2	1300	2	GLUD2	23	120182836	Missense_Mutation	SNP	G	TCGA-DU-6401-01A-11D-1705-08	42172268	120182836	35087724	29	39523											
MAGEC1	9947	broad.mit.edu	37	chrX	140995655	140995655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctccttcccctcctccacttCatcgagtctttcccagagtt	5	14	4	18	1	2	1	1	0	1	1	8	2	7	1	6	0	0	1	6	0	0	4			TCGA-DU-6401-01A-11D-1705-08	TCGA-DU-6401-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a81f733-b3a3-4578-b925-a663612bc92c	194434ed-46e0-4ce9-9f8f-38593d2d09c7	g.chrX:140995655C>T	ENST00000285879.4	+	4	2751	c.2465C>T	c.(2464-2466)tCa>tTa	p.S822L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	822							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCCACTTCATCGAGTCTT	0.562										HNSCC(15;0.026)			T	140995655	C	T	140995655	3	4	372	1	0	0	0	0	1	0	0	0	9255	838	29	2	2471	2	MAGEC1	23	140995655	Missense_Mutation	SNP	C	TCGA-DU-6401-01A-11D-1705-08	20812819	140995655	14274905	30	39524											
PLOD1	5351	broad.mit.edu	37	chr1	12034759	12034759	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccatccgagccccaaGgaagggctggaccctcatgc	8	7	11	15	1	1	0	1	0	0	0	3	3	3	2	5	3	2	2	5	3	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:12034759G>T	ENST00000196061.4	+	19	2105	c.2078G>T	c.(2077-2079)aGg>aTg	p.R693M	PLOD1_ENST00000376369.3_Missense_Mutation_p.R740M	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	693	Fe2OG dioxygenase.				epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	CGAGCCCCAAGGAAGGGCTGG	0.647													T	12034759	G	T	12034759	3	4	373	1	0	0	0	0	1	0	0	0	12178	1000	35	4	2152	4	PLOD1	1	12034759	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		12034759	237215862	1	39525											
PRAMEF4	400735	broad.mit.edu	37	chr1	12941802	12941802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcttctgctctggggaaaCgtagcgagagacatccatgt	9	11	11	10	2	3	1	0	0	3	1	4	4	4	2	1	2	3	2	1	2	2	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:12941802C>T	ENST00000235349.5	-	3	818	c.748G>A	c.(748-750)Gtt>Att	p.V250I		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	250										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TCTGGGGAAACGTAGCGAGAG	0.488													T	12941802	C	T	12941802	3	4	373	1	0	0	0	0	1	0	0	0	12522	536	19	1	696	1	PRAMEF4	1	12941802	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	907043	12941802	236308819	2	39526											
HIST2H2BE	8349	broad.mit.edu	37	chr1	149858178	149858178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggggccggagcggattttgCcggttcaggcatggtaagac	8	8	17	8	3	1	1	1	0	0	1	1	3	1	3	2	7	2	3	2	7	1	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:149858178C>T	ENST00000369155.2	-	1	54	c.13G>A	c.(13-15)Gca>Aca	p.A5T		NM_003528.2	NP_003519.1	Q16778	H2B2E_HUMAN	histone cluster 2, H2be	5				A -> S (in Ref. 7; AAH98112/AAH98289).	defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	14	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGGATTTTGCCGGTTCAGGC	0.507													T	149858178	C	T	149858178	3	4	373	1	0	0	0	0	1	0	0	0	7234	739	26	2	371	2	HIST2H2BE	1	149858178	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	136916376	149858178	99392443	3	39527											
TCHH	7062	broad.mit.edu	37	chr1	152082385	152082385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcctctcccgctcctggCgccttctcttctccggttcc	1	14	7	19	3	3	0	0	0	3	0	8	0	5	0	6	2	1	2	6	2	0	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:152082385C>T	ENST00000368804.1	-	2	3307	c.3308G>A	c.(3307-3309)cGc>cAc	p.R1103H		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1103	10 X 30 AA tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCGCTCCTGGCGCCTTCTCTT	0.612													T	152082385	C	T	152082385	3	4	373	1	0	0	0	0	1	0	0	0	15800	768	27	1	2527	1	TCHH	1	152082385	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	2224207	152082385	97168236	4	39528											
CD1E	913	broad.mit.edu	37	chr1	158324220	158324220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagcagctgtccttcCgcatgctccaaacttcctcc	8	9	8	16	1	0	1	0	0	0	1	5	2	5	2	5	1	4	4	5	1	1	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:158324220C>T	ENST00000368160.3	+	2	112	c.112C>T	c.(112-114)Cgc>Tgc	p.R38C	CD1E_ENST00000368167.3_Missense_Mutation_p.R38C|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368155.3_Missense_Mutation_p.R38C|CD1E_ENST00000368163.3_Missense_Mutation_p.R38C|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R36C|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000368156.1_Missense_Mutation_p.R38C|CD1E_ENST00000368161.3_Missense_Mutation_p.R38C|CD1E_ENST00000368165.3_Missense_Mutation_p.R38C	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	38					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.R38C(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GCTGTCCTTCCGCATGCTCCA	0.542													T	158324220	C	T	158324220	3	4	373	1	0	0	0	0	1	0	0	0	3008	652	23	1	118	1	CD1E	1	158324220	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	6241835	158324220	90926401	5	39529											
RYR2	6262	broad.mit.edu	37	chr1	237777663	237777663	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccctgatgagaacaaaaaAcacggccttccagggatcgg	13	7	10	11	2	0	2	0	2	0	1	3	4	2	3	3	3	2	0	3	3	4	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr1:237777663A>T	ENST00000366574.2	+	37	5552	c.5235A>T	c.(5233-5235)aaA>aaT	p.K1745N	RYR2_ENST00000542537.1_Missense_Mutation_p.K1729N|RYR2_ENST00000360064.6_Missense_Mutation_p.K1743N	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1745	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGAACAAAAAACACGGCCTTC	0.517													T	237777663	A	T	237777663	3	4	373	1	0	0	0	0	1	0	0	0	13860	40	2	5	5381	5	RYR2	1	237777663	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08	79453443	237777663	11472958	6	39530											
PDIA6	10130	broad.mit.edu	37	chr2	10929977	10929977	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataatccacaggagactcGcctttctgaaatatcttgat	12	13	6	10	1	3	3	1	2	2	1	5	4	4	3	2	1	0	0	2	1	3	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:10929977G>A	ENST00000404371.2	-	10	1231	c.894C>T	c.(892-894)ggC>ggT	p.G298G	PDIA6_ENST00000272227.3_Silent_p.G246G|PDIA6_ENST00000404824.2_Silent_p.G294G|PDIA6_ENST00000540494.1_Silent_p.G243G|PDIA6_ENST00000381611.4_Silent_p.G251G	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	246					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CAGGAGACTCGCCTTTCTGAA	0.423													A	10929977	G	A	10929977	2	1	373	1	0	0	0	0	0	0	0	1	11748	1074	38	1		1	PDIA6	2	10929977	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		10929977	232269396	7	39531											
KCNS3	3790	broad.mit.edu	37	chr2	18113581	18113581	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagaagtgtcatgagctaCcttactttaacattagggat	13	12	9	7	0	1	2	1	1	0	1	1	4	1	3	1	1	4	1	1	1	5	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:18113581C>A	ENST00000403915.1	+	3	1757	c.1306C>A	c.(1306-1308)Cct>Act	p.P436T	KCNS3_ENST00000304101.4_Missense_Mutation_p.P436T|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	436					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCATGAGCTACCTTACTTTAA	0.453													A	18113581	C	A	18113581	3	1	373	1	0	0	0	0	1	0	0	0	8148	507	18	4	1308	4	KCNS3	2	18113581	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	7183604	18113581	225085792	8	39532											
COBLL1	22837	broad.mit.edu	37	chr2	165578649	165578649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggcctctcctggatgtgtGcaaggtcttgggggacactc	6	10	14	11	0	2	0	0	0	2	0	4	2	2	2	2	5	1	1	2	5	1	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:165578649G>T	ENST00000375458.2	-	6	1153	c.932C>A	c.(931-933)gCa>gAa	p.A311E	COBLL1_ENST00000194871.6_Missense_Mutation_p.A377E|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000342193.4_Missense_Mutation_p.A311E|COBLL1_ENST00000392717.2_Missense_Mutation_p.A349E|COBLL1_ENST00000409184.3_Missense_Mutation_p.A349E	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	349										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						CTGGATGTGTGCAAGGTCTTG	0.488													T	165578649	G	T	165578649	3	4	373	1	0	0	0	0	1	0	0	0	3685	1319	46	4	2604	4	COBLL1	2	165578649	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	147465068	165578649	77620724	9	39533											
SPHKAP	80309	broad.mit.edu	37	chr2	228890206	228890206	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttggacattcatggaactGataagttttggaagatctgg	11	14	12	4	0	2	2	1	1	1	1	2	5	2	5	0	4	1	2	0	4	3	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:228890206G>A	ENST00000392056.3	-	5	391	c.345C>T	c.(343-345)atC>atT	p.I115I	SPHKAP_ENST00000344657.5_Silent_p.I115I	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	115						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCATGGAACTGATAAGTTTTG	0.363													A	228890206	G	A	228890206	2	1	373	1	0	0	0	0	0	0	0	1	15144	1280	45	2		2	SPHKAP	2	228890206	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	63311557	228890206	14309167	10	39534											
B3GNT7	93010	broad.mit.edu	37	chr2	232263412	232263412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctacccgatcgacgacGtctttctgggcatgtgcctg	6	11	11	13	4	3	0	0	0	3	0	4	3	3	0	2	1	3	2	2	1	1	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:232263412G>A	ENST00000287590.5	+	2	1243	c.982G>A	c.(982-984)Gtc>Atc	p.V328I		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	328					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		GATCGACGACGTCTTTCTGGG	0.672													A	232263412	G	A	232263412	3	1	373	1	0	0	0	0	1	0	0	0	1267	1145	40	1	988	1	B3GNT7	2	232263412	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	3373206	232263412	10935961	11	39535											
GIGYF2	26058	broad.mit.edu	37	chr2	233681681	233681681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaacaggaggaaattcttcGgcgacagcaggaagaagaaa	18	4	12	7	2	1	2	0	0	1	2	2	6	1	5	0	4	2	1	0	4	5	2	rs149585458		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr2:233681681G>A	ENST00000373566.3	+	21	2572	c.2375G>A	c.(2374-2376)cGg>cAg	p.R792Q	GIGYF2_ENST00000409196.3_Missense_Mutation_p.R764Q|GIGYF2_ENST00000409480.1_Missense_Mutation_p.R792Q|GIGYF2_ENST00000452341.2_Missense_Mutation_p.R601Q|GIGYF2_ENST00000373563.4_Missense_Mutation_p.R770Q|GIGYF2_ENST00000409547.1_Missense_Mutation_p.R770Q|GIGYF2_ENST00000409451.3_Missense_Mutation_p.R791Q			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	770	Gln-rich.|Glu-rich.			E -> G (in Ref. 5; CAD98095).	cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		GAAATTCTTCGGCGACAGCAG	0.488													A	233681681	G	A	233681681	3	1	373	1	0	0	0	0	1	0	0	0	6434	1116	39	1	2449	1	GIGYF2	2	233681681	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	1418269	233681681	9517692	12	39536											
HTR3C	170572	broad.mit.edu	37	chr3	183774718	183774718	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatatcagcagtgaaggtCgaattaagtatgataagcca	15	10	9	7	1	1	2	1	2	0	0	2	3	1	2	2	1	2	2	2	1	7	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:183774718C>T	ENST00000318351.1	+	5	479	c.445C>T	c.(445-447)Cga>Tga	p.R149*		NM_130770.2	NP_570126.2	Q8WXA8	5HT3C_HUMAN	5-hydroxytryptamine (serotonin) receptor 3C, ionotropic	149						integral to membrane|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity	p.R149*(1)		central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(2)	32	all_cancers(143;2.33e-10)|Ovarian(172;0.0303)		Epithelial(37;1.74e-35)|OV - Ovarian serous cystadenocarcinoma(80;3.11e-22)			CAGTGAAGGTCGAATTAAGTA	0.478													T	183774718	C	T	183774718	4	4	373	1	0	0	0	0	0	1	0	0	7504	876	31	1	463	1	HTR3C	3	183774718	Nonsense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		183774718	14247712	13	39537											
CLCN2	1181	broad.mit.edu	37	chr3	184075764	184075764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttacctctttgccaagcgGcatcccgctgcctagggcgc	6	9	11	15	3	1	0	0	0	1	0	2	0	2	0	4	2	4	3	4	2	3	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr3:184075764G>A	ENST00000265593.4	-	5	772	c.601C>T	c.(601-603)Ccg>Tcg	p.P201S	CLCN2_ENST00000457512.1_Missense_Mutation_p.P201S|CLCN2_ENST00000423355.2_5'UTR|EIF2B5_ENST00000444495.1_Intron|CLCN2_ENST00000344937.7_Missense_Mutation_p.P201S|CLCN2_ENST00000434054.2_Missense_Mutation_p.P157S	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	201						chloride channel complex	voltage-gated chloride channel activity			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TTGCCAAGCGGCATCCCGCTG	0.597													A	184075764	G	A	184075764	3	1	373	1	0	0	0	0	1	0	0	0	3494	1203	42	2	2175	2	CLCN2	3	184075764	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	301046	184075764	13946666	14	39538											
PROM1	8842	broad.mit.edu	37	chr4	15991422	15991422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtttgtgcatctcttttcAgggagttcctcaaatttcct	7	18	7	9	0	3	0	2	0	1	0	6	1	5	1	2	1	1	3	2	1	2	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:15991422A>G	ENST00000505450.1	-	18	2594	c.1982T>C	c.(1981-1983)cTg>cCg	p.L661P	PROM1_ENST00000543373.1_Missense_Mutation_p.L661P|PROM1_ENST00000508167.1_Missense_Mutation_p.L661P|PROM1_ENST00000447510.2_Missense_Mutation_p.L670P|PROM1_ENST00000539194.1_Missense_Mutation_p.L670P|PROM1_ENST00000540805.1_Missense_Mutation_p.L670P|PROM1_ENST00000510224.1_Missense_Mutation_p.L670P	NM_001145848.1	NP_001139320.1	O43490	PROM1_HUMAN	prominin 1	670					camera-type eye photoreceptor cell differentiation|photoreceptor cell maintenance|retina layer formation	apical plasma membrane|cell surface|integral to plasma membrane|microvillus membrane|photoreceptor outer segment membrane|plasma membrane	beta-actinin binding|cadherin binding			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|liver(1)|lung(11)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(2)	35						ATCTCTTTTCAGGGAGTTCCT	0.413													G	15991422	A	G	15991422	3	3	373	1	0	0	0	0	1	0	0	0	12641	188	7	3	624	3	PROM1	4	15991422	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08		15991422	175162854	15	39539											
CCKAR	886	broad.mit.edu	37	chr4	26483467	26483467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggttgacgcaggaggaggtGtaggacaggaggaggatgaa	12	5	21	3	1	0	2	0	2	0	0	0	8	0	8	0	8	0	3	0	8	2	2	rs150897748		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:26483467G>A	ENST00000295589.3	-	5	1274	c.1080C>T	c.(1078-1080)taC>taT	p.Y360Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	360					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity			NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGAGGAGGTGTAGGACAGGA	0.627													A	26483467	G	A	26483467	2	1	373	1	0	0	0	0	0	0	0	1	2908	1372	48	2		2	CCKAR	4	26483467	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	10492045	26483467	164670809	16	39540											
UGT2B17	7367	broad.mit.edu	37	chr4	69434170	69434170	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtaacaactgagctgcatCagcagaaagactgacatcca	17	6	8	10	0	1	4	1	2	0	2	2	4	2	4	1	0	5	4	1	0	4	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:69434170C>T	ENST00000317746.2	-	1	75	c.33G>A	c.(31-33)ctG>ctA	p.L11L		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	11					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TGAGCTGCATCAGCAGAAAGA	0.423													T	69434170	C	T	69434170	2	4	373	1	0	0	0	0	0	0	0	1	17061	813	29	2		2	UGT2B17	4	69434170	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	42950703	69434170	121720106	17	39541											
PPEF2	5470	broad.mit.edu	37	chr4	76812812	76812812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactcactgtcgttgtggCtgctggggatgaagtgatcc	7	12	13	9	1	1	2	1	2	0	0	3	3	2	3	1	3	2	3	1	3	2	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:76812812C>T	ENST00000286719.7	-	4	586	c.230G>A	c.(229-231)aGc>aAc	p.S77N		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	77					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GTCGTTGTGGCTGCTGGGGAT	0.522													T	76812812	C	T	76812812	3	4	373	1	0	0	0	0	1	0	0	0	12385	797	28	2	2087	2	PPEF2	4	76812812	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	7378642	76812812	114341464	18	39542											
FAT4	79633	broad.mit.edu	37	chr4	126239159	126239159	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcagtgaacatagcggcctCgtgaccactgggtcctctgg	8	9	12	12	2	2	2	1	2	1	0	4	2	3	2	3	3	2	0	3	3	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr4:126239159C>T	ENST00000394329.3	+	1	1606	c.1593C>T	c.(1591-1593)ctC>ctT	p.L531L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	531	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ATAGCGGCCTCGTGACCACTG	0.547											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	126239159	C	T	126239159	2	4	373	1	0	0	0	0	0	0	0	1	5741	871	31	1		1	FAT4	4	126239159	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	49426347	126239159	64915117	19	39543											
MARCH11	441061	broad.mit.edu	37	chr5	16067657	16067657	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggggcctcatccgatTgaacaggtgcaataacacat	12	10	9	10	1	2	1	2	1	0	0	3	2	3	1	2	3	3	1	2	3	3	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:16067657T>C	ENST00000332432.8	-	4	1331	c.1132A>G	c.(1132-1134)Aat>Gat	p.N378D		NM_001102562.1	NP_001096032.1	A6NNE9	MARHB_HUMAN	membrane-associated ring finger (C3HC4) 11	378						cytoplasmic vesicle membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)|urinary_tract(1)	20						CTCATCCGATTGAACAGGTGC	0.478													C	16067657	T	C	16067657	3	2	373	1	0	0	0	0	1	0	0	0	9375	1812	63	3	80	3	MARCH11	5	16067657	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08		16067657	164847603	20	39544											
PCDHA2	56146	broad.mit.edu	37	chr5	140176070	140176070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcgcgcgttgtcgagctaCgtttcggtgcacgcggagag	6	8	17	10	8	0	1	0	0	0	1	2	4	0	1	0	2	4	4	0	2	1	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140176070C>T	ENST00000526136.1	+	1	1521	c.1521C>T	c.(1519-1521)taC>taT	p.Y507Y	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Silent_p.Y507Y|PCDHA2_ENST00000520672.2_Silent_p.Y507Y|PCDHA1_ENST00000504120.2_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTCGAGCTACGTTTCGGTGC	0.682													T	140176070	C	T	140176070	2	4	373	1	0	0	0	0	0	0	0	1	11600	547	19	1		1	PCDHA2	5	140176070	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	124108413	140176070	40739190	21	39545											
PCDHB2	56133	broad.mit.edu	37	chr5	140475880	140475880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggacccgcacctgcccctCgcctccctggtctccatcaa	6	7	7	21	2	2	0	1	0	1	0	5	1	3	1	7	2	1	1	7	2	1	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr5:140475880C>T	ENST00000194155.4	+	1	1654	c.1506C>T	c.(1504-1506)ctC>ctT	p.L502L		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		502	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACCTGCCCCTCGCCTCCCTGG	0.692													T	140475880	C	T	140475880	2	4	373	1	0	0	0	0	0	0	0	1	11618	871	31	1		1	PCDHB2	5	140475880	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08	299810	140475880	40439380	22	39546											
PKHD1	5314	broad.mit.edu	37	chr6	51882309	51882309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgtagaggtaaggccaCgattcaagcagttgctctgt	12	10	11	8	1	2	1	1	0	1	1	2	2	2	1	1	2	2	5	1	2	4	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr6:51882309C>T	ENST00000371117.3	-	34	5774	c.5499G>A	c.(5497-5499)tcG>tcA	p.S1833S	PKHD1_ENST00000340994.4_Silent_p.S1833S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1833			S -> L (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGTAAGGCCACGATTCAAGCA	0.512													T	51882309	C	T	51882309	2	4	373	1	0	0	0	0	0	0	0	1	12048	523	19	1		1	PKHD1	6	51882309	Silent	SNP	C	TCGA-DU-6402-01A-11D-1705-08		51882309	119232758	23	39547											
DDC	1644	broad.mit.edu	37	chr7	50611629	50611629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgatgatgtcctcaaacGtgtctggctcctgaggggca	7	11	13	10	2	2	3	1	3	1	0	4	3	4	3	2	3	1	3	2	3	1	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:50611629G>A	ENST00000444124.2	-	2	355	c.155C>T	c.(154-156)aCg>aTg	p.T52M	DDC_ENST00000357936.5_Missense_Mutation_p.T52M|DDC_ENST00000431062.1_Missense_Mutation_p.T52M|DDC_ENST00000426377.1_Missense_Mutation_p.T52M|DDC_ENST00000380984.4_Missense_Mutation_p.T52M	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	52					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	GTCCTCAAACGTGTCTGGCTC	0.557													A	50611629	G	A	50611629	3	1	373	1	0	0	0	0	1	0	0	0	4359	1145	40	1	1339	1	DDC	7	50611629	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		50611629	108527034	24	39548											
GRM3	2913	broad.mit.edu	37	chr7	86415593	86415593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaggtggcaaacctgctgcGgctcttccagatccctcaga	8	9	10	14	1	2	2	1	0	1	2	4	2	4	2	3	3	3	3	3	3	2	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:86415593G>A	ENST00000361669.2	+	3	1584	c.485G>A	c.(484-486)cGg>cAg	p.R162Q	GRM3_ENST00000439827.1_Missense_Mutation_p.R162Q|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Missense_Mutation_p.R160Q|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.R34Q|GRM3_ENST00000546348.1_Intron	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	162					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	AACCTGCTGCGGCTCTTCCAG	0.522													A	86415593	G	A	86415593	3	1	373	1	0	0	0	0	1	0	0	0	6853	1116	39	1	491	1	GRM3	7	86415593	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	35803964	86415593	72723070	25	39549											
SLC26A3	1811	broad.mit.edu	37	chr7	107423751	107423751	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccgaagcaatctcctaCggtgttttggaaagtctcca	10	11	10	10	2	2	0	0	0	2	0	4	3	2	1	3	2	3	2	3	2	4	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:107423751C>T	ENST00000340010.5	-	9	1202	c.1018G>A	c.(1018-1020)Gta>Ata	p.V340I	SLC26A3_ENST00000422236.2_Missense_Mutation_p.V305I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	340					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCTCCTACGGTGTTTTGG	0.418													T	107423751	C	T	107423751	3	4	373	1	0	0	0	0	1	0	0	0	14612	536	19	1	1328	1	SLC26A3	7	107423751	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	21008158	107423751	51714912	26	39550											
BRAF	673	broad.mit.edu	37	chr7	140453154	140453154	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgtagctagaccaaaaTcacctatttttactgtgagg	12	13	7	9	0	2	2	2	1	0	1	2	2	2	2	2	1	2	2	2	1	6	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr7:140453154T>C	ENST00000288602.6	-	15	1841	c.1781A>G	c.(1780-1782)gAt>gGt	p.D594G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	594	Protein kinase.		D -> G (in NHL).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.D594G(35)|p.D594V(3)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TAGACCAAAATCACCTATTTT	0.373		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				C	140453154	T	C	140453154	3	2	373	1	0	0	0	0	1	0	0	0	1505	1435	50	3	535	3	BRAF	7	140453154	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	33029403	140453154	18685509	27	39551											
DAPK1	1612	broad.mit.edu	37	chr9	90301560	90301560	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgggtcttaccaaagggatGctggaggtgtttgtggcccc	6	10	15	10	1	1	0	0	0	1	0	1	2	1	2	4	5	2	2	4	5	2	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr9:90301560G>A	ENST00000469640.2	+	21	2694	c.2319G>A	c.(2317-2319)atG>atA	p.M773I	DAPK1_ENST00000472284.1_Missense_Mutation_p.M773I|DAPK1_ENST00000491893.1_Missense_Mutation_p.M773I|DAPK1_ENST00000408954.3_Missense_Mutation_p.M773I|DAPK1_ENST00000358077.5_Missense_Mutation_p.M773I			P53355	DAPK1_HUMAN	death-associated protein kinase 1	773					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						CCAAAGGGATGCTGGAGGTGT	0.577									Chronic Lymphocytic Leukemia, Familial Clustering of				A	90301560	G	A	90301560	3	1	373	1	0	0	0	0	1	0	0	0	4269	1319	46	2	2397	2	DAPK1	9	90301560	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		90301560	50911871	28	39552											
PTEN	5728	broad.mit.edu	37	chr10	89692835	89692835	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcaaacccttttgtgaaGatcttgaccaatggctaagt	12	14	7	8	0	2	3	1	2	1	1	2	3	2	3	2	1	1	1	2	1	5	5	rs57374291		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr10:89692835G>T	ENST00000371953.3	+	5	1676	c.319G>T	c.(319-321)Gat>Tat	p.D107Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	107	Phosphatase tensin-type.		D -> Y (in BZS and glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.D107Y(3)|p.Y27fs*1(2)|p.F56fs*2(1)|p.P103fs*3(1)|p.D107N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTTTTGTGAAGATCTTGACCA	0.368		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89692835	G	T	89692835	3	4	373	1	0	0	0	0	1	0	0	0	12823	942	33	4	337	4	PTEN	10	89692835	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		89692835	45841912	29	39553											
COPB1	1315	broad.mit.edu	37	chr11	14507918	14507918	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaatacacagtaccttgaTtgcagttggtgcactagaga	14	10	10	7	0	0	3	0	1	0	2	0	4	0	3	1	1	4	4	1	1	4	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:14507918T>C	ENST00000249923.3	-	7	1132	c.832A>G	c.(832-834)Atc>Gtc	p.I278V	COPB1_ENST00000439561.2_Missense_Mutation_p.I278V	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	278					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AGTACCTTGATTGCAGTTGGT	0.383													C	14507918	T	C	14507918	3	2	373	1	0	0	0	0	1	0	0	0	3759	1493	52	3	2093	3	COPB1	11	14507918	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08		14507918	120498598	30	39554											
MS4A6E	245802	broad.mit.edu	37	chr11	60107365	60107365	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtctctgatgctggtttcTactgtgttggagttctgcct	3	18	11	9	0	3	1	0	1	3	0	4	2	3	2	1	2	3	4	1	2	1	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:60107365T>A	ENST00000300182.4	+	3	446	c.381T>A	c.(379-381)tcT>tcA	p.S127S		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	127						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TGCTGGTTTCTACTGTGTTGG	0.493													A	60107365	T	A	60107365	2	1	373	1	0	0	0	0	0	0	0	1	9941	1509	53	5		5	MS4A6E	11	60107365	Silent	SNP	T	TCGA-DU-6402-01A-11D-1705-08	45599447	60107365	74899151	31	39555											
EXPH5	23086	broad.mit.edu	37	chr11	108381685	108381685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtctcctcaccaagctgtaGtttatgcaatgctggagtaa	11	12	9	9	0	2	0	1	0	1	0	3	1	2	1	2	1	3	6	2	1	5	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108381685G>T	ENST00000265843.4	-	6	4659	c.4549C>A	c.(4549-4551)Cta>Ata	p.L1517I	EXPH5_ENST00000443411.1_Missense_Mutation_p.L1329I|EXPH5_ENST00000428840.1_Missense_Mutation_p.L1441I|EXPH5_ENST00000525344.1_Missense_Mutation_p.L1510I	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1517					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CCAAGCTGTAGTTTATGCAAT	0.433													T	108381685	G	T	108381685	3	4	373	1	0	0	0	0	1	0	0	0	5364	1020	36	4	1424	4	EXPH5	11	108381685	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	48274320	108381685	26624831	32	39556											
EXPH5	23086	broad.mit.edu	37	chr11	108382533	108382533	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcaccagaaacagaaaacGtactagtcgtcttaacttta	16	10	5	10	2	2	2	1	0	1	2	3	2	2	2	1	0	4	1	1	0	7	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr11:108382533G>C	ENST00000265843.4	-	6	3811	c.3701C>G	c.(3700-3702)aCg>aGg	p.T1234R	EXPH5_ENST00000443411.1_Missense_Mutation_p.T1046R|EXPH5_ENST00000428840.1_Missense_Mutation_p.T1158R|EXPH5_ENST00000525344.1_Missense_Mutation_p.T1227R	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1234					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACAGAAAACGTACTAGTCGT	0.373													C	108382533	G	C	108382533	3	2	373	1	0	0	0	0	1	0	0	0	5364	1145	40	4	2272	4	EXPH5	11	108382533	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	848	108382533	26623983	33	39557											
CLEC12A	160364	broad.mit.edu	37	chr12	10124176	10124176	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttacactttgtcaagAtttctttacatattcatcaa	11	20	3	7	0	4	1	3	0	1	1	4	1	4	1	0	0	2	1	0	0	5	9			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:10124176A>G	ENST00000355690.4	+	2	42	c.11A>G	c.(10-12)gAt>gGt	p.D4G	CLEC12A_ENST00000304361.4_5'UTR|CLEC12A_ENST00000434319.2_5'UTR	NM_001207010.1	NP_001193939.1	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	0						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CTTTGTCAAGATTTCTTTACA	0.318													G	10124176	A	G	10124176	5	3	373	1	0	0	0	0	0	0	1	0	3528	348	12	3		3	CLEC12A	12	10124176	Splice_Site	SNP	A	TCGA-DU-6402-01A-11D-1705-08		10124176	123727719	34	39558											
CPNE8	144402	broad.mit.edu	37	chr12	39087538	39087538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaacattttatcactgTcataatcttgaacaatttct	13	16	4	8	0	4	1	2	1	2	0	4	2	4	2	0	1	2	0	0	1	5	5			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:39087538T>C	ENST00000331366.5	-	15	1160	c.1064A>G	c.(1063-1065)gAc>gGc	p.D355G	CPNE8_ENST00000538596.2_Missense_Mutation_p.D24G|CPNE8_ENST00000360449.3_Missense_Mutation_p.D343G	NM_153634.2	NP_705898.1	Q86YQ8	CPNE8_HUMAN	copine VIII	355	VWFA.									NS(1)|breast(1)|endometrium(1)|large_intestine(6)|lung(6)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	21	Esophageal squamous(101;0.187)	Lung NSC(34;0.137)|Melanoma(24;0.152)|all_lung(34;0.157)				TTTATCACTGTCATAATCTTG	0.418													C	39087538	T	C	39087538	3	2	373	1	0	0	0	0	1	0	0	0	3849	1667	58	3	654	3	CPNE8	12	39087538	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	28963362	39087538	94764357	35	39559											
ORMDL2	29095	broad.mit.edu	37	chr12	56213247	56213247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccagtttacctcttcccGcaagttcctcagcatctctc	6	13	5	17	1	3	0	1	0	2	0	8	0	6	0	4	0	2	5	4	0	2	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:56213247G>A	ENST00000243045.5	+	3	491	c.296G>A	c.(295-297)cGc>cAc	p.R99H	ORMDL2_ENST00000550836.1_Missense_Mutation_p.R11H|RP11-762I7.5_ENST00000546837.1_Intron|ORMDL2_ENST00000548974.1_Missense_Mutation_p.R99H|ORMDL2_ENST00000552672.1_Missense_Mutation_p.R65H|RP11-762I7.5_ENST00000552719.1_Intron	NM_014182.4	NP_054901.1	Q53FV1	ORML2_HUMAN	ORM1-like 2 (S. cerevisiae)	99					ceramide metabolic process	endoplasmic reticulum membrane|integral to membrane				kidney(1)|lung(3)	4						ACCTCTTCCCGCAAGTTCCTC	0.512													A	56213247	G	A	56213247	3	1	373	1	0	0	0	0	1	0	0	0	11346	1087	38	1	302	1	ORMDL2	12	56213247	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	17125709	56213247	77638648	36	39560											
FZD10	11211	broad.mit.edu	37	chr12	130648631	130648631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggggacgagctcaccGgggtctgctacgtgggcagc	5	6	19	11	4	2	0	1	0	1	0	2	2	2	1	1	6	4	3	1	6	1	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr12:130648631G>A	ENST00000539839.1	+	1	1628	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	FZD10_ENST00000229030.4_Missense_Mutation_p.G382R	NM_007197.3	NP_009128.1	Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	0					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CGAGCTCACCGGGGTCTGCTA	0.647													A	130648631	G	A	130648631	3	1	373	1	0	0	0	0	1	0	0	0	6181	1116	39	1	1146	1	FZD10	12	130648631	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	74435384	130648631	3203264	37	39561											
RPL10L	140801	broad.mit.edu	37	chr14	47120403	47120403	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaccatgtcttcaaattcGtcagcattaaacttcgtgaa	12	12	6	11	2	3	1	2	1	1	0	5	1	3	1	2	0	2	1	2	0	4	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr14:47120403G>A	ENST00000298283.3	-	1	625	c.537C>T	c.(535-537)gaC>gaT	p.D179D		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	179					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						CTTCAAATTCGTCAGCATTAA	0.517													A	47120403	G	A	47120403	2	1	373	1	0	0	0	0	0	0	0	1	13647	1136	40	1		1	RPL10L	14	47120403	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		47120403	60229137	38	39562											
HCN4	10021	broad.mit.edu	37	chr15	73615765	73615765	+	Missense_Mutation	SNP	G	G	A																															ctgatggtgtgggagccgagGgggagccacaggccccgggg																										TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615765G>A	ENST00000261917.3	-	8	3662	c.2669C>T	c.(2668-2670)cCc>cTc	p.P890L		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGGAGCCGAGGGGGAGCCACA	0.672													A	73615765	G	A	73615765	3	1	373	1	0	0	0	0	1	0	0	0	7054	1232	43	2	946	2	HCN4	15	73615765	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		73615765	28915627	39	39563	128	2									
HCN4	10021	broad.mit.edu	37	chr15	73615766	73615766	+	Missense_Mutation	SNP	G	G	A																															tgatggtgtgggagccgaggGggagccacaggccccggggg																										TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr15:73615766G>A	ENST00000261917.3	-	8	3661	c.2668C>T	c.(2668-2670)Ccc>Tcc	p.P890S		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	890					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGAGCCGAGGGGGAGCCACAG	0.677													A	73615766	G	A	73615766	3	1	373	1	0	0	0	0	1	0	0	0	7054	1232	43	2	947	2	HCN4	15	73615766	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08	1	73615766	28915626	40	39564	128	2									
ACSM2A	123876	broad.mit.edu	37	chr16	20476848	20476848	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttcctcaggctggcaagCgactcccaagcccagccctg	7	8	9	17	1	2	0	1	0	1	0	4	1	4	0	4	2	3	2	4	2	2	1	rs146541514		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr16:20476848C>T	ENST00000573854.1	+	3	301	c.187C>T	c.(187-189)Cga>Tga	p.R63*	ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000219054.6_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000424070.1_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000575690.1_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000396104.2_Nonsense_Mutation_p.R63*|ACSM2A_ENST00000417235.2_5'UTR|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	63					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GGCTGGCAAGCGACTCCCAAG	0.517													T	20476848	C	T	20476848	4	4	373	1	0	0	0	0	0	1	0	0	183	760	27	1	193	1	ACSM2A	16	20476848	Nonsense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		20476848	69877905	41	39565											
MYO15A	51168	broad.mit.edu	37	chr17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggggaggccagcccGgtggaggcagcagtagtggt	9	5	20	7	1	0	1	0	1	0	0	0	3	0	3	2	7	2	3	2	7	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													A	18053797	G	A	18053797	3	1	373	1	0	0	0	0	1	0	0	0	10139	1116	39	1	7401	1	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		18053797	63141413	42	39566											
NF1	4763	broad.mit.edu	37	chr17	29548901	29548901	+	Frame_Shift_Del	DEL	G	G	-																															ttcatcagttagatagcattGatttgtggaatcctgatgct																										TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29548901delG	ENST00000358273.4	+	15	2058	c.1675delG	c.(1675-1677)gatfs	p.D559fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.D559fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.D559fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	559					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGATAGCATTGATTTGTGGAA	0.289			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29548901	G	-	29548901	7	5	373	1	0	1	0	1	0	0	0	0	10432	1290	45	0	1733	0	NF1	17	29548901	Frame_Shift_Del	DEL	G	TCGA-DU-6402-01A-11D-1705-08	11495104	29548901	51646309	43	39567											
NF1	4763	broad.mit.edu	37	chr17	29663747	29663747	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgggatgatattgctatttTagcacgctacatgctgatgc	9	14	11	7	1	0	2	0	2	0	0	0	3	0	3	0	1	5	4	0	1	4	6			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:29663747T>G	ENST00000358273.4	+	42	6625	c.6242T>G	c.(6241-6243)tTa>tGa	p.L2081*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L2060*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2081					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATTGCTATTTTAGCACGCTAC	0.408			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29663747	T	G	29663747	4	3	373	1	0	0	0	0	0	1	0	0	10432	1764	61	5	6469	5	NF1	17	29663747	Nonsense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	114846	29663747	51531463	44	39568											
CDK12	51755	broad.mit.edu	37	chr17	37687042	37687042	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagagcctcctggccacCtgccacatgagcaccaggcc	10	4	10	17	0	0	2	0	1	0	1	1	2	1	2	7	2	4	2	7	2	1	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:37687042C>A	ENST00000447079.4	+	14	3979	c.3946C>A	c.(3946-3948)Ctg>Atg	p.L1316M	CDK12_ENST00000430627.2_Missense_Mutation_p.L1307M	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1316					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TCCTGGCCACCTGCCACATGA	0.582			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			A	37687042	C	A	37687042	3	1	373	1	0	0	0	0	1	0	0	0	3158	680	24	4	4000	4	CDK12	17	37687042	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	8023295	37687042	43508168	45	39569											
SDK2	54549	broad.mit.edu	37	chr17	71410870	71410870	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaattggtggcttccgcGtgcacattgcccggagggac	6	9	16	10	3	0	0	0	0	0	0	1	3	1	3	2	5	2	2	2	5	1	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr17:71410870G>A	ENST00000392650.3	-	18	2397	c.2397C>T	c.(2395-2397)caC>caT	p.H799H	SDK2_ENST00000388726.3_Silent_p.H799H	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	799	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.H799H(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						TGGCTTCCGCGTGCACATTGC	0.597													A	71410870	G	A	71410870	2	1	373	1	0	0	0	0	0	0	0	1	14062	1136	40	1		1	SDK2	17	71410870	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	33723828	71410870	9784340	46	39570											
ANKRD30B	374860	broad.mit.edu	37	chr18	14763803	14763803	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcttggtggagggaacGtctgccaaaattcaatgtct	10	10	12	9	2	3	0	1	0	2	0	3	2	3	2	1	3	2	2	1	3	4	2			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr18:14763803G>A	ENST00000358984.4	+	7	1119	c.939G>A	c.(937-939)acG>acA	p.T313T	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.T313T	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	313										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGGAGGGAACGTCTGCCAAAA	0.478													A	14763803	G	A	14763803	2	1	373	1	0	0	0	0	0	0	0	1	659	1132	40	1		1	ANKRD30B	18	14763803	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08		14763803	63313445	47	39571											
NEDD4L	23327	broad.mit.edu	37	chr18	56008358	56008358	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcgcacatactatgtcaAtcataacaatcgaaccacaa	16	7	7	11	2	2	0	2	0	0	0	3	1	2	0	1	2	3	1	1	2	7	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr18:56008358A>G	ENST00000456986.1	+	14	1451	c.851A>G	c.(850-852)aAt>aGt	p.N284S	NEDD4L_ENST00000400345.3_Missense_Mutation_p.N405S|NEDD4L_ENST00000431212.2_Missense_Mutation_p.N284S|NEDD4L_ENST00000456173.2_Missense_Mutation_p.N264S|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000356462.6_Intron|NEDD4L_ENST00000256830.9_Intron|NEDD4L_ENST00000435432.2_Missense_Mutation_p.N264S|NEDD4L_ENST00000256832.7_Missense_Mutation_p.N264S|NEDD4L_ENST00000357895.5_Missense_Mutation_p.N397S|NEDD4L_ENST00000382850.4_Missense_Mutation_p.N385S|NEDD4L_ENST00000586263.1_Missense_Mutation_p.N377S	NM_001144964.1	NP_001138436.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	405					cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TACTATGTCAATCATAACAAT	0.478													G	56008358	A	G	56008358	3	3	373	1	0	0	0	0	1	0	0	0	10387	101	4	3	1296	3	NEDD4L	18	56008358	Missense_Mutation	SNP	A	TCGA-DU-6402-01A-11D-1705-08	41244555	56008358	22068890	48	39572											
CD70	970	broad.mit.edu	37	chr19	6590911	6590911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgctggatgcacaccaCgaggcagatcaccaagcccg	12	3	12	14	3	1	1	1	0	0	1	1	4	1	2	3	2	3	3	3	2	2	0	rs148772362		TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:6590911C>T	ENST00000245903.3	-	1	252	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	CD70_ENST00000423145.3_Missense_Mutation_p.V35M	NM_001252.3	NP_001243.1	P32970	CD70_HUMAN	CD70 molecule	35					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to membrane of membrane fraction|integral to plasma membrane	cytokine activity|protease binding|tumor necrosis factor receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|skin(1)	11						ATGCACACCACGAGGCAGATC	0.627													T	6590911	C	T	6590911	3	4	373	1	0	0	0	0	1	0	0	0	3063	536	19	1	490	1	CD70	19	6590911	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08		6590911	52538072	49	39573											
CPAMD8	27151	broad.mit.edu	37	chr19	17013546	17013546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagctgggggccagtctcctCgggaaccctcagctgcggag	6	6	15	14	2	2	0	1	0	1	0	4	2	2	2	3	4	4	2	3	4	1	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:17013546C>T	ENST00000443236.1	-	35	4770	c.4739G>A	c.(4738-4740)cGa>cAa	p.R1580Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1533						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCAGTCTCCTCGGGAACCCTC	0.657													T	17013546	C	T	17013546	3	4	373	1	0	0	0	0	1	0	0	0	3826	884	31	1	1091	1	CPAMD8	19	17013546	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	10422635	17013546	42115437	50	39574											
UBE2M	9040	broad.mit.edu	37	chr19	59068093	59068093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgttgccctcgaggtcaatgTtggggtgatagaccattgtc	7	12	13	9	2	1	2	1	1	0	1	3	3	1	2	2	3	1	2	2	3	2	4			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr19:59068093T>C	ENST00000253023.3	-	4	886	c.308A>G	c.(307-309)aAc>aGc	p.N103S		NM_003969.3	NP_003960.1	P61081	UBC12_HUMAN	ubiquitin-conjugating enzyme E2M	103					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding|ribosomal S6-glutamic acid ligase activity|ubiquitin-protein ligase activity			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)	5		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		GAGGTCAATGTTGGGGTGATA	0.582													C	59068093	T	C	59068093	3	2	373	1	0	0	0	0	1	0	0	0	16967	1725	60	3	255	3	UBE2M	19	59068093	Missense_Mutation	SNP	T	TCGA-DU-6402-01A-11D-1705-08	42054547	59068093	60890	51	39575											
MC3R	4159	broad.mit.edu	37	chr20	54824776	54824776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatcatgtgcaactccGtcatcgacccactcatctac	9	11	4	17	2	5	0	4	0	1	0	8	1	7	0	3	0	3	1	3	0	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:54824776G>A	ENST00000243911.2	+	1	989	c.877G>A	c.(877-879)Gtc>Atc	p.V293I		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	330					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			GTGCAACTCCGTCATCGACCC	0.552													A	54824776	G	A	54824776	3	1	373	1	0	0	0	0	1	0	0	0	9440	1145	40	1	879	1	MC3R	20	54824776	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		54824776	8200744	52	39576											
PHACTR3	116154	broad.mit.edu	37	chr20	58349322	58349322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaggaagagaaagtaaaggGtctccaaagaagcggctgga	17	4	14	6	1	1	2	0	0	1	2	2	5	1	4	1	4	1	2	1	4	7	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr20:58349322G>A	ENST00000371015.1	+	7	1418	c.951G>A	c.(949-951)ggG>ggA	p.G317G	PHACTR3_ENST00000355648.4_Silent_p.G276G|PHACTR3_ENST00000361300.4_Silent_p.G206G|PHACTR3_ENST00000395639.4_Silent_p.G206G|PHACTR3_ENST00000395636.2_Silent_p.G276G|PHACTR3_ENST00000541461.1_Silent_p.G276G|PHACTR3_ENST00000359926.3_Silent_p.G314G	NM_001281507.1|NM_080672.3	NP_001268436.1|NP_542403.1	Q96KR7	PHAR3_HUMAN	phosphatase and actin regulator 3	317						nuclear matrix	actin binding|protein phosphatase inhibitor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|liver(2)|lung(32)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	59	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;2.76e-09)			AAAGTAAAGGGTCTCCAAAGA	0.527													A	58349322	G	A	58349322	2	1	373	1	0	0	0	0	0	0	0	1	11888	1248	44	2		2	PHACTR3	20	58349322	Silent	SNP	G	TCGA-DU-6402-01A-11D-1705-08	3524546	58349322	4676198	53	39577											
LRRC3	81543	broad.mit.edu	37	chr21	45877263	45877263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgaagtctctgcccagcGcccccgcctccaaggacccc	7	5	8	21	2	1	1	0	1	1	0	3	2	2	2	8	1	2	0	8	1	2	0			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr21:45877263G>A	ENST00000291592.4	+	2	1053	c.736G>A	c.(736-738)Gcc>Acc	p.A246T		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	246						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		TCTGCCCAGCGCCCCCGCCTC	0.652													A	45877263	G	A	45877263	3	1	373	1	0	0	0	0	1	0	0	0	9054	1087	38	1	738	1	LRRC3	21	45877263	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		45877263	2252632	54	39578											
SFI1	9814	broad.mit.edu	37	chr22	32013006	32013006	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagcctggaccttgaggctGaacttgaggagatccagcag	10	7	14	10	0	0	4	0	3	0	1	1	6	1	5	3	3	3	3	3	3	1	2	rs143349198	by1000genomes	TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32013006G>C	ENST00000432498.1	+	30	3754	c.3361G>C	c.(3361-3363)Gaa>Caa	p.E1121Q	SFI1_ENST00000414585.1_Silent_p.L997L|SFI1_ENST00000474741.1_Intron|SFI1_ENST00000400288.2_Missense_Mutation_p.E1152Q|SFI1_ENST00000443326.1_Missense_Mutation_p.E1070Q|SFI1_ENST00000443011.1_Missense_Mutation_p.E999Q|SFI1_ENST00000400289.1_Missense_Mutation_p.E1070Q|SFI1_ENST00000540643.1_Missense_Mutation_p.E1097Q	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	1152					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CCTTGAGGCTGAACTTGAGGA	0.567													C	32013006	G	C	32013006	3	2	373	1	0	0	0	0	1	0	0	0	14249	1291	45	4	3572	4	SFI1	22	32013006	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		32013006	19291560	55	39579											
DEPDC5	9681	broad.mit.edu	37	chr22	32302244	32302244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagttctcagggcagcagCggcggcggcggaactccacc	8	4	15	14	4	1	0	1	0	1	0	3	1	2	1	2	5	3	4	2	5	2	1			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chr22:32302244C>T	ENST00000266091.3	+	42	4649	c.4507C>T	c.(4507-4509)Cgg>Tgg	p.R1503W	DEPDC5_ENST00000400248.2_Missense_Mutation_p.R1494W|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000400246.1_Silent_p.S1504S|DEPDC5_ENST00000539165.1_Missense_Mutation_p.R342W|DEPDC5_ENST00000382112.3_Missense_Mutation_p.R1516W|DEPDC5_ENST00000535622.1_Missense_Mutation_p.R1425W|DEPDC5_ENST00000400249.2_Missense_Mutation_p.R1494W|DEPDC5_ENST00000382111.2_Silent_p.S1504S			O75140	DEPD5_HUMAN	DEP domain containing 5	1494					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGGGCAGCAGCGGCGGCGGCG	0.607													T	32302244	C	T	32302244	3	4	373	1	0	0	0	0	1	0	0	0	4481	759	27	1	4730	1	DEPDC5	22	32302244	Missense_Mutation	SNP	C	TCGA-DU-6402-01A-11D-1705-08	289238	32302244	19002322	56	39580											
MUM1L1	139221	broad.mit.edu	37	chrX	105449891	105449891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaactcagcatgcttgttaGcatcttcagagagtgatgat	13	12	9	7	0	3	3	2	2	1	1	3	4	3	3	0	0	4	4	0	0	3	3			TCGA-DU-6402-01A-11D-1705-08	TCGA-DU-6402-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	896ec7d7-5443-49bb-969b-7b483e9b518c	3bc825bc-5589-4e0b-b380-38fceee3231b	g.chrX:105449891G>A	ENST00000337685.2	+	5	1251	c.466G>A	c.(466-468)Gca>Aca	p.A156T	MUM1L1_ENST00000372552.1_Missense_Mutation_p.A156T|MUM1L1_ENST00000357175.2_Missense_Mutation_p.A156T	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	156										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						ATGCTTGTTAGCATCTTCAGA	0.413													A	105449891	G	A	105449891	3	1	373	1	0	0	0	0	1	0	0	0	10062	971	34	2	468	2	MUM1L1	23	105449891	Missense_Mutation	SNP	G	TCGA-DU-6402-01A-11D-1705-08		105449891	49820669	57	39581											
WDR63	126820	broad.mit.edu	37	chr1	85546977	85546977	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagaaatatttaactgccGaatagatgaagatgtcacag	17	9	8	7	1	1	4	1	1	0	3	1	5	1	4	2	0	2	0	2	0	7	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:85546977G>T	ENST00000294664.6	+	4	344	c.164G>T	c.(163-165)cGa>cTa	p.R55L	WDR63_ENST00000370596.1_Missense_Mutation_p.R55L|WDR63_ENST00000326813.8_Missense_Mutation_p.R55L	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	55										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		TTTAACTGCCGAATAGATGAA	0.368													T	85546977	G	T	85546977	3	4	374	1	0	0	0	0	1	0	0	0	17416	1058	37	4	174	4	WDR63	1	85546977	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		85546977	163703644	1	39582											
SPAG17	200162	broad.mit.edu	37	chr1	118558706	118558706	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttgtaaaccaggtgcctAtgtgaacctccacaggagtt	10	11	11	9	0	0	1	0	1	0	0	1	2	1	2	4	3	3	3	4	3	4	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:118558706A>C	ENST00000336338.5	-	29	4234	c.4169T>G	c.(4168-4170)aTa>aGa	p.I1390R		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1390						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CCAGGTGCCTATGTGAACCTC	0.468													C	118558706	A	C	118558706	3	2	374	1	0	0	0	0	1	0	0	0	15075	449	16	5	2582	5	SPAG17	1	118558706	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08	33011729	118558706	130691915	2	39583											
HRNR	388697	broad.mit.edu	37	chr1	152192866	152192866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagagctgtgttggccGcggcctgaagagtgacggga	8	7	17	9	3	0	4	0	2	0	2	1	6	1	5	3	3	1	2	3	3	1	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152192866G>A	ENST00000368801.2	-	3	1314	c.1239C>T	c.(1237-1239)cgC>cgT	p.R413R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	413					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTGTTGGCCGCGGCCTGAAG	0.632													A	152192866	G	A	152192866	2	1	374	1	0	0	0	0	0	0	0	1	7414	1074	38	1		1	HRNR	1	152192866	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	33634160	152192866	97057755	3	39584											
FLG	2312	broad.mit.edu	37	chr1	152279767	152279767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaagcttcatggtgacgcGaccctgagtgcctggagccg	8	7	15	11	3	1	2	1	2	0	0	1	5	1	4	3	3	3	1	3	3	1	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:152279767G>A	ENST00000368799.1	-	3	7630	c.7595C>T	c.(7594-7596)tCg>tTg	p.S2532L	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2532	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			ATGGTGACGCGACCCTGAGTG	0.597									Ichthyosis				A	152279767	G	A	152279767	3	1	374	1	0	0	0	0	1	0	0	0	5971	1059	37	1	4594	1	FLG	1	152279767	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	86901	152279767	96970854	4	39585											
OR6K3	391114	broad.mit.edu	37	chr1	158687191	158687191	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgaggtggcctgcacaggTagaaaaagccttttgcctcc	10	9	11	11	0	0	2	0	1	0	1	1	2	1	2	4	3	3	2	4	3	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:158687191T>G	ENST00000368146.1	-	1	762	c.763A>C	c.(763-765)Acc>Ccc	p.T255P	OR6K3_ENST00000368145.1_Missense_Mutation_p.T239P			Q8NGY3	OR6K3_HUMAN	olfactory receptor, family 6, subfamily K, member 3	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)	41	all_hematologic(112;0.0378)					CCTGCACAGGTAGAAAAAGCC	0.453													G	158687191	T	G	158687191	3	3	374	1	0	0	0	0	1	0	0	0	11279	1638	57	5	234	5	OR6K3	1	158687191	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	6407424	158687191	90563430	5	39586											
ADAMTS4	9507	broad.mit.edu	37	chr1	161168155	161168156	+	Frame_Shift_Ins	INS	-	-	AG																															tagtagcagcgtctccccaaINSaggcctgcaagcggcacaac																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:161168155_161168156insAG	ENST00000367996.5	-	1	690_691	c.262_263insCT	c.(262-264)tttfs	p.F88fs	ADAMTS4_ENST00000367995.3_Frame_Shift_Ins_p.F88fs	NM_005099.4	NP_005090.3	O75173	ATS4_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 4						proteolysis|skeletal system development	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|protease binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(20)|ovary(4)|prostate(3)|skin(1)|urinary_tract(1)	43	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			CGTCTCCCCAAAGGCCTGCAAG	0.668													AG	161168156	-	AG	161168155	7	5	374	1	0	1	1	0	0	0	0	0	268	14	1	0	2286	0	ADAMTS4	1	161168155	Frame_Shift_Ins	INS	-	TCGA-DU-6403-01A-11D-1705-08	2480964	161168155	88082466	6	39587											
ASTN1	460	broad.mit.edu	37	chr1	176863937	176863937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttggggtctctttcccGctcctcagactcatctgatg	5	13	8	15	1	4	2	2	1	2	1	7	2	6	2	3	2	0	1	3	2	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:176863937G>A	ENST00000367654.3	-	17	2936	c.2725C>T	c.(2725-2727)Cgg>Tgg	p.R909W	ASTN1_ENST00000424564.2_Missense_Mutation_p.R901W|ASTN1_ENST00000367657.3_Missense_Mutation_p.R901W|ASTN1_ENST00000361833.2_Missense_Mutation_p.R901W	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TCTCTTTCCCGCTCCTCAGAC	0.532													A	176863937	G	A	176863937	3	1	374	1	0	0	0	0	1	0	0	0	1069	1086	38	1	1215	1	ASTN1	1	176863937	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	15695782	176863937	72386684	7	39588											
SLC35F3	148641	broad.mit.edu	37	chr1	234041399	234041399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgaaatggtcgcgctccGtggaggatctcaccagcggg	8	8	14	11	4	2	1	1	1	2	0	5	3	3	3	2	4	1	1	2	4	1	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr1:234041399G>A	ENST00000366618.3	+	2	323	c.178G>A	c.(178-180)Gtg>Atg	p.V60M		NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	0					transport	integral to membrane		p.V60L(1)		breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			GTCGCGCTCCGTGGAGGATCT	0.642													A	234041399	G	A	234041399	3	1	374	1	0	0	0	0	1	0	0	0	14684	1145	40	1	184	1	SLC35F3	1	234041399	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	57177462	234041399	15209222	8	39589											
AGBL5	60509	broad.mit.edu	37	chr2	27278054	27278054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccccgggcccaaaccctcCgtcgcctcttcgtctttaag	6	10	7	18	4	2	0	0	0	2	0	6	0	4	0	6	1	1	0	6	1	2	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:27278054C>T	ENST00000360131.4	+	6	1000	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	AGBL5_ENST00000323064.8_Missense_Mutation_p.R281C	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	281					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCAAACCCTCCGTCGCCTCTT	0.557													T	27278054	C	T	27278054	3	4	374	1	0	0	0	0	1	0	0	0	378	652	23	1	859	1	AGBL5	2	27278054	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		27278054	215921319	9	39590											
LBH	81606	broad.mit.edu	37	chr2	30457270	30457270	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgggtttcttggcaGccccgactatctgagatcgg	5	13	13	10	2	3	1	0	1	3	1	4	3	3	1	2	4	1	2	2	4	1	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:30457270G>T	ENST00000395323.3	+	2	234		c.e2-1		LBH_ENST00000404397.1_Splice_Site|LBH_ENST00000407930.2_Splice_Site|LBH_ENST00000406087.1_Splice_Site|LBH_ENST00000401506.1_Splice_Site|LBH_ENST00000467242.1_Splice_Site	NM_030915.3	NP_112177.2	Q53QV2	LBH_HUMAN	limb bud and heart development						multicellular organismal development|transcription, DNA-dependent	cytoplasm|nucleolus				endometrium(2)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(172;0.155)					TTTCTTGGCAGCCCCGACTAT	0.542													T	30457270	G	T	30457270	5	4	374	1	0	0	0	0	0	0	1	0	8709	985	34	4	32	4	LBH	2	30457270	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	3179216	30457270	212742103	10	39591											
PSME4	23198	broad.mit.edu	37	chr2	54123990	54123990	+	Frame_Shift_Del	DEL	T	T	-																															ttgtgggttctttttagctgTttaaggataccagcaacagc																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:54123990delT	ENST00000404125.1	-	32	3694	c.3639delA	c.(3637-3639)aaafs	p.K1213fs	PSME4_ENST00000421748.2_Frame_Shift_Del_p.K357fs	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1213					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TTTTTAGCTGTTTAAGGATAC	0.348													-	54123990	T	-	54123990	7	5	374	1	0	1	0	1	0	0	0	0	12794	1722	60	0	1952	0	PSME4	2	54123990	Frame_Shift_Del	DEL	T	TCGA-DU-6403-01A-11D-1705-08	23666720	54123990	189075383	11	39592											
PSD4	23550	broad.mit.edu	37	chr2	113950108	113950108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcctggaacttggcctcaCgcctctatcgcctggagggc	6	9	12	14	2	2	0	1	0	1	0	3	2	2	2	4	4	2	0	4	4	3	3	rs117870995	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:113950108C>T	ENST00000441564.3	+	6	1865	c.1696C>T	c.(1696-1698)Cgc>Tgc	p.R566C	PSD4_ENST00000245796.6_Missense_Mutation_p.R594C			Q8NDX1	PSD4_HUMAN	pleckstrin and Sec7 domain containing 4		SEC7.				regulation of ARF protein signal transduction	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity	p.R594C(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(13)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTGGCCTCACGCCTCTATCG	0.597													T	113950108	C	T	113950108	3	4	374	1	0	0	0	0	1	0	0	0	12734	536	19	1	1798	1	PSD4	2	113950108	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	59826118	113950108	129249265	12	39593											
PDE11A	50940	broad.mit.edu	37	chr2	178936632	178936632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgaggcagattcactctcGattccagcagcgcactgaga	11	7	10	13	3	2	2	1	1	1	2	4	5	3	2	2	1	2	3	2	1	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:178936632G>A	ENST00000286063.6	-	1	850	c.533C>T	c.(532-534)tCg>tTg	p.S178L	PDE11A_ENST00000358450.4_Intron	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A						platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			ATTCACTCTCGATTCCAGCAG	0.537									Primary Pigmented Nodular Adrenocortical Disease, Familial				A	178936632	G	A	178936632	3	1	374	1	0	0	0	0	1	0	0	0	11707	1059	37	1	2348	1	PDE11A	2	178936632	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	64986524	178936632	64262741	13	39594											
COL6A3	1293	broad.mit.edu	37	chr2	238277603	238277603	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcaggcgccgtatggcGtccagcaccggggcctggga	6	5	16	14	4	1	0	1	0	0	0	2	1	2	1	5	5	2	2	5	5	1	1	rs115551245	by1000genomes	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr2:238277603G>A	ENST00000295550.4	-	10	4955	c.4503C>T	c.(4501-4503)gaC>gaT	p.D1501D	COL6A3_ENST00000472056.1_Silent_p.D894D|COL6A3_ENST00000409809.1_Silent_p.D1295D|COL6A3_ENST00000347401.3_Silent_p.D1300D|COL6A3_ENST00000353578.4_Silent_p.D1295D|COL6A3_ENST00000346358.4_Silent_p.D1301D	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1501	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCCGTATGGCGTCCAGCACCG	0.557													A	238277603	G	A	238277603	2	1	374	1	0	0	0	0	0	0	0	1	3732	1136	40	1		1	COL6A3	2	238277603	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	59340971	238277603	4921770	14	39595											
ROBO2	6092	broad.mit.edu	37	chr3	77614192	77614192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggactgcggcccaatacaatCtacttattcatggtcagagc	11	10	9	11	1	3	1	2	0	1	1	3	2	3	2	1	3	4	0	1	3	5	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:77614192C>T	ENST00000461745.1	+	12	2670	c.1770C>T	c.(1768-1770)atC>atT	p.I590I	ROBO2_ENST00000332191.8_Silent_p.I590I|ROBO2_ENST00000487694.3_Silent_p.I606I	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	590	Fibronectin type-III 1.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAATACAATCTACTTATTCA	0.507													T	77614192	C	T	77614192	2	4	374	1	0	0	0	0	0	0	0	1	13605	903	32	2		2	ROBO2	3	77614192	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08		77614192	120408238	15	39596											
SI	6476	broad.mit.edu	37	chr3	164730794	164730794	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcttcatcttccgttagagTtttatctattgttatgttgg	7	20	8	6	1	3	1	1	0	2	1	4	1	4	1	1	1	1	5	1	1	4	9			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:164730794T>C	ENST00000264382.3	-	34	4098	c.4036A>G	c.(4036-4038)Act>Gct	p.T1346A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1346	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	TCCGTTAGAGTTTTATCTATT	0.328										HNSCC(35;0.089)			C	164730794	T	C	164730794	3	2	374	1	0	0	0	0	1	0	0	0	14391	1725	60	3	1507	3	SI	3	164730794	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	87116602	164730794	33291636	16	39597											
SENP5	205564	broad.mit.edu	37	chr3	196654715	196654715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccagagaaaaaaatagacctGaatttcttcagggttggcag	15	9	10	7	0	2	3	1	1	1	2	2	4	2	3	2	2	0	2	2	2	5	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr3:196654715G>A	ENST00000323460.5	+	8	2320	c.2071G>A	c.(2071-2073)Gaa>Aaa	p.E691K	SENP5_ENST00000419026.1_Missense_Mutation_p.E181K|SENP5_ENST00000445299.2_Missense_Mutation_p.E645K	NM_152699.4	NP_689912.2	Q96HI0	SENP5_HUMAN	SUMO1/sentrin specific peptidase 5	691	Protease.				cell cycle|cell division|proteolysis	nucleolus	cysteine-type peptidase activity			NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(14)|skin(1)	32	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;3.14e-24)|all cancers(36;2.1e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.004)		AAATAGACCTGAATTTCTTCA	0.413													A	196654715	G	A	196654715	3	1	374	1	0	0	0	0	1	0	0	0	14142	1291	45	2	2097	2	SENP5	3	196654715	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	31923921	196654715	1367715	17	39598											
TLR6	10333	broad.mit.edu	37	chr4	38830190	38830190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcaatgctttcaatgtcGttttagaataagtaaaatct	13	17	6	5	1	3	1	2	0	1	1	4	1	3	1	0	0	1	3	0	0	7	6			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:38830190G>A	ENST00000436693.2	-	2	1024	c.905C>T	c.(904-906)aCg>aTg	p.T302M	TLR6_ENST00000381950.1_Missense_Mutation_p.T302M	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	302					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTTCAATGTCGTTTTAGAATA	0.323													A	38830190	G	A	38830190	3	1	374	1	0	0	0	0	1	0	0	0	16055	1145	40	1	1489	1	TLR6	4	38830190	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		38830190	152324086	18	39599											
SNCA	6622	broad.mit.edu	37	chr4	90743488	90743488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctactgctgtcacacccGtcaccactgctcctccaaca	8	8	7	18	1	2	0	2	0	0	0	4	0	4	0	4	1	4	3	4	1	2	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:90743488G>A	ENST00000394989.2	-	3	435	c.173C>T	c.(172-174)aCg>aTg	p.T58M	SNCA_ENST00000508895.1_Missense_Mutation_p.T72M|SNCA_ENST00000505199.1_Missense_Mutation_p.T58M|SNCA_ENST00000394986.1_Missense_Mutation_p.T72M|SNCA_ENST00000420646.2_Missense_Mutation_p.T72M|SNCA_ENST00000506244.1_Missense_Mutation_p.T72M|SNCA_ENST00000345009.4_Missense_Mutation_p.T72M|SNCA_ENST00000336904.3_Missense_Mutation_p.T72M|SNCA_ENST00000502987.1_Missense_Mutation_p.T72M|SNCA_ENST00000394991.3_Missense_Mutation_p.T72M			P37840	SYUA_HUMAN	synuclein, alpha (non A4 component of amyloid precursor)	72	4 X 11 AA tandem repeats of [EGS]-K-T-K- [EQ]-[GQ]-V-X(4).				activation of caspase activity|anti-apoptosis|negative regulation of dopamine uptake|negative regulation of exocytosis|negative regulation of histone acetylation|negative regulation of microtubule polymerization|negative regulation of monooxygenase activity|negative regulation of norepinephrine uptake|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of serotonin uptake|negative regulation of thrombin receptor signaling pathway|negative regulation of transporter activity|positive regulation of endocytosis|positive regulation of inositol phosphate biosynthetic process|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein serine/threonine kinase activity|positive regulation of receptor recycling|positive regulation of release of sequestered calcium ion into cytosol|receptor internalization|regulation of phospholipase activity|response to interferon-gamma|response to interleukin-1|response to iron(II) ion|response to lipopolysaccharide|response to magnesium ion|synaptic vesicle endocytosis	actin cytoskeleton|axon|cell cortex|cell junction|cytosol|fibril|growth cone|nucleus|synapse	alpha-tubulin binding|calcium ion binding|caspase inhibitor activity|dynein binding|ferrous iron binding|histone binding|Hsp70 protein binding|kinesin binding|magnesium ion binding|phosphoprotein binding|tau protein binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;7.42e-05)	Melatonin(DB01065)	TGTCACACCCGTCACCACTGC	0.502													A	90743488	G	A	90743488	3	1	374	1	0	0	0	0	1	0	0	0	14934	1145	40	1	219	1	SNCA	4	90743488	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	51913298	90743488	100410788	19	39600											
NDST3	9348	broad.mit.edu	37	chr4	119064828	119064828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacttttcttcactgtcGtcctcaaccctgtaagtact	9	14	6	12	1	3	1	2	0	1	1	5	2	4	1	2	0	3	2	2	0	4	5			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119064828G>A	ENST00000296499.5	+	6	1931	c.1528G>A	c.(1528-1530)Gtc>Atc	p.V510I	NDST3_ENST00000433996.2_Missense_Mutation_p.V429I	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	510	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CTTCACTGTCGTCCTCAACCC	0.428													A	119064828	G	A	119064828	3	1	374	1	0	0	0	0	1	0	0	0	10333	1145	40	1	1546	1	NDST3	4	119064828	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	28321340	119064828	72089448	20	39601											
PRSS12	8492	broad.mit.edu	37	chr4	119216148	119216148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctactcaggagcgtagccCcgcagaggagcctgccatct	9	6	12	14	2	2	1	1	0	1	1	2	3	2	3	4	2	6	3	4	2	2	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr4:119216148C>T	ENST00000296498.3	-	11	2267	c.1985G>A	c.(1984-1986)gGg>gAg	p.G662E	PRSS12_ENST00000510903.1_Intron	NM_003619.3	NP_003610.2	P56730	NETR_HUMAN	protease, serine, 12 (neurotrypsin, motopsin)	662	Peptidase S1.					membrane	scavenger receptor activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(11)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	29						GAGCGTAGCCCCGCAGAGGAG	0.532													T	119216148	C	T	119216148	3	4	374	1	0	0	0	0	1	0	0	0	12700	623	22	2	654	2	PRSS12	4	119216148	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	151320	119216148	71938128	21	39602											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766884	130766884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttttgggtttggaaggCtttggaagttgtcatgggag	7	15	16	3	0	1	0	1	0	0	0	1	3	1	3	0	5	1	4	0	5	2	5			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:130766884C>T	ENST00000509018.1	-	26	4338	c.4133G>A	c.(4132-4134)aGc>aAc	p.S1378N	RAPGEF6_ENST00000307984.5_Missense_Mutation_p.S1391N|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.S1386N|RAPGEF6_ENST00000507093.1_Missense_Mutation_p.S1386N|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.S1428N	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1378	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTTGGAAGGCTTTGGAAGTT	0.443													T	130766884	C	T	130766884	3	4	374	1	0	0	0	0	1	0	0	0	13136	797	28	2	684	2	RAPGEF6	5	130766884	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		130766884	50148376	22	39603											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769049	140769049	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaactcacactgcaggcccGcgaccagggctcgccagcgc	8	3	12	18	5	1	0	1	0	0	0	2	2	1	0	3	2	3	2	3	2	1	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:140769049G>A	ENST00000519479.1	+	1	1598	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCAGGCCCGCGACCAGGGC	0.677													A	140769049	G	A	140769049	3	1	374	1	0	0	0	0	1	0	0	0	11641	1087	38	1	1600	1	PCDHGB4	5	140769049	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	10002165	140769049	40146211	23	39604											
GRIA1	2890	broad.mit.edu	37	chr5	153174271	153174271	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtacgacaagggcgagtgCggcagcgggggaggtgattc	8	6	20	7	4	0	1	0	1	0	0	1	4	0	2	0	6	3	2	0	6	2	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:153174271C>T	ENST00000285900.5	+	14	2704	c.2361C>T	c.(2359-2361)tgC>tgT	p.C787C	GRIA1_ENST00000521843.2_Silent_p.C718C|GRIA1_ENST00000518783.1_Silent_p.C797C|GRIA1_ENST00000518142.1_Silent_p.C707C|GRIA1_ENST00000340592.5_Intron|GRIA1_ENST00000448073.4_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	787					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	AGGGCGAGTGCGGCAGCGGGG	0.458													T	153174271	C	T	153174271	2	4	374	1	0	0	0	0	0	0	0	1	6822	776	27	1		1	GRIA1	5	153174271	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	12405222	153174271	27740989	24	39605											
FAM71B	153745	broad.mit.edu	37	chr5	156589604	156589604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcttagccacgatatctaCctctctgtcatgtgatgtga	9	14	7	11	1	4	2	1	2	3	0	5	3	4	2	2	0	2	0	2	0	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr5:156589604C>T	ENST00000302938.4	-	2	1767	c.1672G>A	c.(1672-1674)Gta>Ata	p.V558I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	558						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			ACGATATCTACCTCTCTGTCA	0.483													T	156589604	C	T	156589604	3	4	374	1	0	0	0	0	1	0	0	0	5658	507	18	2	149	2	FAM71B	5	156589604	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	3415333	156589604	24325656	25	39606											
PKHD1	5314	broad.mit.edu	37	chr6	51889804	51889804	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatagactgacgtggtgtTctgtcctctcaggcctgtgc	7	13	11	10	1	2	2	1	1	2	1	4	2	3	2	2	2	1	1	2	2	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr6:51889804T>G	ENST00000371117.3	-	32	5079	c.4804A>C	c.(4804-4806)Aac>Cac	p.N1602H	PKHD1_ENST00000340994.4_Missense_Mutation_p.N1602H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1602	IPT/TIG 11.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACGTGGTGTTCTGTCCTCTC	0.498													G	51889804	T	G	51889804	3	3	374	1	0	0	0	0	1	0	0	0	12048	1783	62	5	7603	5	PKHD1	6	51889804	Missense_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08		51889804	119225263	26	39607											
CHN2	1124	broad.mit.edu	37	chr7	29535576	29535576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggatcacaggtccacacGttccgaggcccacactggtg	8	9	11	13	2	1	0	1	0	0	0	3	2	3	1	3	4	0	1	3	4	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:29535576G>A	ENST00000222792.6	+	8	1193	c.663G>A	c.(661-663)acG>acA	p.T221T	CHN2_ENST00000424025.2_Silent_p.T40T|CHN2_ENST00000539389.1_Silent_p.T77T|CHN2_ENST00000410098.1_3'UTR|CHN2_ENST00000439711.2_Silent_p.T85T|CHN2_ENST00000421775.2_Silent_p.T85T|CHN2_ENST00000495789.2_Silent_p.T234T|CHN2_ENST00000539406.1_Silent_p.T296T|CHN2_ENST00000435288.2_Intron|CHN2_ENST00000409041.4_Silent_p.T85T|CHN2_ENST00000546235.1_Silent_p.T206T	NM_004067.2	NP_004058.1	P52757	CHIO_HUMAN	chimerin 2	221					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						AGGTCCACACGTTCCGAGGCC	0.483													A	29535576	G	A	29535576	2	1	374	1	0	0	0	0	0	0	0	1	3393	1132	40	1		1	CHN2	7	29535576	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08		29535576	129603087	27	39608											
HECW1	23072	broad.mit.edu	37	chr7	43581598	43581598	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaagaggtttttggacagGtttgtgtgacatggggtttg	8	15	16	2	0	0	3	0	2	0	1	0	4	0	4	0	5	0	3	0	5	1	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:43581598G>C	ENST00000395891.2	+	26	4853		c.e26+1		HECW1_ENST00000453890.1_Splice_Site	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TTTTGGACAGGTTTGTGTGAC	0.368													C	43581598	G	C	43581598	5	2	374	1	0	0	0	0	0	0	1	0	7097	1275	44	4	4343	4	HECW1	7	43581598	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	14046022	43581598	115557065	28	39609											
WBSCR17	64409	broad.mit.edu	37	chr7	70597851	70597851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatcgcggtagccggcttCgtgctcttcctggccaagtg	4	12	13	12	4	1	1	0	1	1	0	4	1	2	1	3	3	2	3	3	3	2	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:70597851C>T	ENST00000333538.5	+	1	697	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	21						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAGCCGGCTTCGTGCTCTTCC	0.672													T	70597851	C	T	70597851	2	4	374	1	0	0	0	0	0	0	0	1	17366	883	31	1		1	WBSCR17	7	70597851	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	27016253	70597851	88540812	29	39610											
HGF	3082	broad.mit.edu	37	chr7	81339500	81339500	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccatcctatgtttgttcGtgttggaatcccatttacaa	9	16	6	10	1	0	0	0	0	0	0	4	1	3	1	3	1	1	3	3	1	4	6			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:81339500G>A	ENST00000222390.5	-	13	1730	c.1504C>T	c.(1504-1506)Cga>Tga	p.R502*	HGF_ENST00000457544.2_Nonsense_Mutation_p.R497*	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	502	Peptidase S1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ATGTTTGTTCGTGTTGGAATC	0.348													A	81339500	G	A	81339500	4	1	374	1	0	0	0	0	0	1	0	0	7140	1153	40	1	706	1	HGF	7	81339500	Nonsense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	10741649	81339500	77799163	30	39611											
PCLO	27445	broad.mit.edu	37	chr7	82785657	82785657	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctggacgcccagggtcCgggggtcttcctgattgctt	4	11	15	11	2	1	2	0	2	1	0	3	3	3	3	3	4	2	2	3	4	0	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:82785657C>T	ENST00000333891.9	-	2	637	c.300G>A	c.(298-300)ccG>ccA	p.P100P	PCLO_ENST00000423517.2_Silent_p.P100P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GCCCAGGGTCCGGGGGTCTTC	0.418													T	82785657	C	T	82785657	2	4	374	1	0	0	0	0	0	0	0	1	11659	639	23	1		1	PCLO	7	82785657	Silent	SNP	C	TCGA-DU-6403-01A-11D-1705-08	1446157	82785657	76353006	31	39612											
EPHB6	2051	broad.mit.edu	37	chr7	142563850	142563850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaaggagtgtgaaggccGccaggaacctgccagcggtg	9	5	17	10	2	0	1	0	1	0	0	0	3	0	3	4	4	4	1	4	4	3	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:142563850G>T	ENST00000392957.2	+	9	2025	c.1238G>T	c.(1237-1239)cGc>cTc	p.R413L	EPHB6_ENST00000442129.1_Missense_Mutation_p.R413L|EPHB6_ENST00000411471.2_Missense_Mutation_p.R136L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	413	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGTGAAGGCCGCCAGGAACCT	0.637													T	142563850	G	T	142563850	3	4	374	1	0	0	0	0	1	0	0	0	5219	1087	38	4	1256	4	EPHB6	7	142563850	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	59778193	142563850	16574813	32	39613											
OR2A5	393046	broad.mit.edu	37	chr7	143747664	143747664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactccagactgcacacccCcatgtacttctttctctcac	8	11	5	17	0	3	1	1	0	2	1	5	2	4	2	3	1	2	2	3	1	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:143747664C>A	ENST00000408906.2	+	1	204	c.170C>A	c.(169-171)cCc>cAc	p.P57H		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	57					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					CTGCACACCCCCATGTACTTC	0.502													A	143747664	C	A	143747664	3	1	374	1	0	0	0	0	1	0	0	0	11057	623	22	4	172	4	OR2A5	7	143747664	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	1183814	143747664	15390999	33	39614											
NOBOX	135935	broad.mit.edu	37	chr7	144096876	144096876	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactgctggcagggccaggGgctgcaggattgtccttgct	5	10	16	10	0	0	1	0	1	0	0	1	2	1	2	2	5	3	5	2	5	0	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:144096876G>A	ENST00000467773.1	-	6	1127	c.1128C>T	c.(1126-1128)gcC>gcT	p.A376A	NOBOX_ENST00000483238.1_Silent_p.A344A|NOBOX_ENST00000223140.5_Silent_p.A259A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	376					cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CAGGGCCAGGGGCTGCAGGAT	0.537													A	144096876	G	A	144096876	2	1	374	1	0	0	0	0	0	0	0	1	10588	1219	43	2		2	NOBOX	7	144096876	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	349212	144096876	15041787	34	39615											
ABCF2	10061	broad.mit.edu	37	chr7	150921894	150921894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaatgaggccataacgaCggcctgagtttaattccagt	13	9	9	10	2	0	2	0	2	0	0	1	3	1	2	4	2	2	1	4	2	4	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr7:150921894C>T	ENST00000287844.2	-	3	444	c.335G>A	c.(334-336)cGt>cAt	p.R112H	ABCF2_ENST00000222388.2_Missense_Mutation_p.R112H	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	112	ABC transporter 1.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCCATAACGACGGCCTGAGTT	0.463													T	150921894	C	T	150921894	3	4	374	1	0	0	0	0	1	0	0	0	66	536	19	1	1629	1	ABCF2	7	150921894	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	6825018	150921894	8216769	35	39616											
GRHL2	79977	broad.mit.edu	37	chr8	102585973	102585973	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggccccatgacctacctcaAcaaaggacagttctatgcca	12	7	8	14	0	2	1	1	1	1	0	2	2	2	2	5	2	3	1	5	2	4	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr8:102585973A>G	ENST00000251808.3	+	6	1150	c.812A>G	c.(811-813)aAc>aGc	p.N271S	GRHL2_ENST00000395927.1_Missense_Mutation_p.N255S	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	271						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			ACCTACCTCAACAAAGGACAG	0.522													G	102585973	A	G	102585973	3	3	374	1	0	0	0	0	1	0	0	0	6819	43	2	3	834	3	GRHL2	8	102585973	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		102585973	43778049	36	39617											
TSC1	7248	broad.mit.edu	37	chr9	135798758	135798758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttcttcaggcaccatgatGacagacggccaaaaatgtca	13	9	9	10	1	3	3	2	2	1	1	3	3	3	3	2	2	0	2	2	2	2	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr9:135798758G>A	ENST00000298552.3	-	6	706	c.485C>T	c.(484-486)tCa>tTa	p.S162L	TSC1_ENST00000545250.1_Missense_Mutation_p.S111L|TSC1_ENST00000475903.1_5'UTR|TSC1_ENST00000440111.2_Missense_Mutation_p.S162L|TSC1_ENST00000403810.1_Missense_Mutation_p.S162L	NM_000368.4|NM_001162426.1|NM_001162427.1	NP_000359.1|NP_001155898.1|NP_001155899.1	Q92574	TSC1_HUMAN	tuberous sclerosis 1	162					activation of Rho GTPase activity|cell cycle arrest|cell-matrix adhesion|insulin receptor signaling pathway|negative regulation of cell proliferation|negative regulation of protein ubiquitination|negative regulation of TOR signaling cascade|negative regulation of translation|positive regulation of focal adhesion assembly|regulation of phosphoprotein phosphatase activity|regulation of stress fiber assembly|rRNA export from nucleus	cell cortex|lamellipodium|membrane|TSC1-TSC2 complex	chaperone binding|protein N-terminus binding			NS(1)|bone(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(9)|lung(20)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	65				OV - Ovarian serous cystadenocarcinoma(145;4.32e-08)|Epithelial(140;2.72e-06)		GCACCATGATGACAGACGGCC	0.433			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				A	135798758	G	A	135798758	3	1	374	1	0	0	0	0	1	0	0	0	16706	1294	45	2	3081	2	TSC1	9	135798758	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		135798758	5414673	37	39618											
COL17A1	1308	broad.mit.edu	37	chr10	105793848	105793848	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccgatgtcagtgccAtagggacccctgtctcctgc	5	9	12	15	1	2	0	1	0	1	0	3	2	2	1	6	2	2	0	6	2	1	1	rs147001132	byFrequency	TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr10:105793848A>G	ENST00000353479.5	-	52	4301	c.4011T>C	c.(4009-4011)taT>taC	p.Y1337Y	COL17A1_ENST00000369733.3_Silent_p.Y1255Y	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	1337	Triple-helical region.				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TGTCAGTGCCATAGGGACCCC	0.617													G	105793848	A	G	105793848	2	3	374	1	0	0	0	0	0	0	0	1	3705	224	8	3		3	COL17A1	10	105793848	Silent	SNP	A	TCGA-DU-6403-01A-11D-1705-08		105793848	29740899	38	39619											
OR5AP2	338675	broad.mit.edu	37	chr11	56409492	56409492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaattctcccagacaCgagaactgggtagagcaggg	15	5	12	9	1	1	3	0	0	1	3	2	4	1	3	1	2	3	3	1	2	4	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:56409492C>T	ENST00000544374.1	-	1	455	c.427G>A	c.(427-429)Gtg>Atg	p.V143M	OR5AP2_ENST00000302981.1_Missense_Mutation_p.V142M			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V142M(1)		breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTCCCAGACACGAGAACTGGG	0.488													T	56409492	C	T	56409492	3	4	374	1	0	0	0	0	1	0	0	0	11220	536	19	1	530	1	OR5AP2	11	56409492	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		56409492	78597024	39	39620											
PRCP	5547	broad.mit.edu	37	chr11	82571020	82571020	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgaatctgcacataccGtgttattacaaaaccagata	15	12	5	9	1	2	2	1	1	1	1	2	2	2	2	2	0	4	2	2	0	7	5			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:82571020G>A	ENST00000313010.3	-	2	502	c.308C>T	c.(307-309)aCg>aTg	p.T103M	PRCP_ENST00000535099.1_Intron|PRCP_ENST00000393399.2_Splice_Site_p.T124M	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	103					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						TGCACATACCGTGTTATTACA	0.353													A	82571020	G	A	82571020	5	1	374	1	0	0	0	0	0	0	1	0	12535	1159	40	1	1214	1	PRCP	11	82571020	Splice_Site	SNP	G	TCGA-DU-6403-01A-11D-1705-08	26161528	82571020	52435496	40	39621											
ESAM	90952	broad.mit.edu	37	chr11	124624651	124624651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggcttaaagacccacGgatgacatctgtggacacaa	13	7	12	9	1	1	3	0	2	1	1	1	5	1	5	1	4	0	1	1	4	3	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:124624651G>A	ENST00000278927.5	-	5	745	c.616C>T	c.(616-618)Cgt>Tgt	p.R206C	ESAM_ENST00000442070.2_Missense_Mutation_p.R27C	NM_138961.2	NP_620411.2	Q96AP7	ESAM_HUMAN	endothelial cell adhesion molecule	206	Ig-like C2-type.				blood coagulation|leukocyte migration	adherens junction|integral to membrane|tight junction				endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.022)		AAAGACCCACGGATGACATCT	0.478													A	124624651	G	A	124624651	3	1	374	1	0	0	0	0	1	0	0	0	5288	1116	39	1	568	1	ESAM	11	124624651	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	42053631	124624651	10381865	41	39622											
ST14	6768	broad.mit.edu	37	chr11	130079588	130079588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacccctgtccagcgtggAggcggatgggcggatcttcc	5	7	17	12	3	1	0	0	0	1	0	3	4	3	4	4	6	1	0	4	6	0	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr11:130079588A>G	ENST00000278742.5	+	19	2856	c.2438A>G	c.(2437-2439)gAg>gGg	p.E813G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	813	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	TCCAGCGTGGAGGCGGATGGG	0.692													G	130079588	A	G	130079588	3	3	374	1	0	0	0	0	1	0	0	0	15307	304	11	3	2512	3	ST14	11	130079588	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08	5454937	130079588	4926928	42	39623											
TDRD3	81550	broad.mit.edu	37	chr13	61103049	61103049	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagctttcagtggtataaaaAttgaaaaacattttaatgta	18	14	6	3	0	1	1	1	1	0	0	1	1	1	1	0	1	2	3	0	1	9	7			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr13:61103049A>G	ENST00000196169.3	+	11	2199	c.1411A>G	c.(1411-1413)Att>Gtt	p.I471V	TDRD3_ENST00000377894.2_Missense_Mutation_p.I471V|TDRD3_ENST00000377881.2_Missense_Mutation_p.I471V|TDRD3_ENST00000535286.1_Missense_Mutation_p.I564V	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	471					chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGTATAAAAATTGAAAAACA	0.303													G	61103049	A	G	61103049	3	3	374	1	0	0	0	0	1	0	0	0	15832	101	4	3	1732	3	TDRD3	13	61103049	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		61103049	54066829	43	39624											
DLGAP5	9787	broad.mit.edu	37	chr14	55619340	55619340	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aattaaatctggtaatccagGacactgagcatcttctatgc	13	12	7	9	0	3	1	0	1	3	0	4	2	4	2	1	2	2	2	1	2	5	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr14:55619340G>T	ENST00000247191.2	-	16	2305	c.2089C>A	c.(2089-2091)Cct>Act	p.P697T	DLGAP5_ENST00000395425.2_Missense_Mutation_p.P697T	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	697					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						GGTAATCCAGGACACTGAGCA	0.323													T	55619340	G	T	55619340	3	4	374	1	0	0	0	0	1	0	0	0	4602	1174	41	4	562	4	DLGAP5	14	55619340	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		55619340	51730200	44	39625											
TUBGCP5	114791	broad.mit.edu	37	chr15	22835954	22835954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacagccacaaaatagAaaaaacaatcgaagggtaag	21	5	8	7	1	1	1	1	0	0	1	2	2	1	1	1	1	3	1	1	1	10	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:22835954A>G	ENST00000283645.4	+	2	315	c.185A>G	c.(184-186)gAa>gGa	p.E62G	TUBGCP5_ENST00000453949.2_Missense_Mutation_p.E62G	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	62					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CACAAAATAGAAAAAACAATC	0.313													G	22835954	A	G	22835954	3	3	374	1	0	0	0	0	1	0	0	0	16871	246	9	3	191	3	TUBGCP5	15	22835954	Missense_Mutation	SNP	A	TCGA-DU-6403-01A-11D-1705-08		22835954	79695438	45	39626											
DUOX2	50506	broad.mit.edu	37	chr15	45401122	45401122	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctggccacatagtctgtacgGgagaatttgccagggccagg	9	8	14	10	1	1	1	0	0	1	1	1	2	1	1	3	4	2	1	3	4	3	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:45401122G>A	ENST00000389039.6	-	12	1648	c.1263C>T	c.(1261-1263)tcC>tcT	p.S421S	DUOX2_ENST00000603300.1_Silent_p.S421S			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	421	Peroxidase-like; mediates peroxidase activity (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		AGTCTGTACGGGAGAATTTGC	0.557													A	45401122	G	A	45401122	2	1	374	1	0	0	0	0	0	0	0	1	4840	1219	43	2		2	DUOX2	15	45401122	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08	22565168	45401122	57130270	46	39627											
SPATA8	145946	broad.mit.edu	37	chr15	97328356	97328356	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctggtcctgatttttcaaTagtgtccctaccctgaagct	7	15	8	11	0	1	2	1	2	0	0	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr15:97328356T>A	ENST00000558553.1	+	3	354	c.205T>A	c.(205-207)Tag>Aag	p.*69K	SPATA8_ENST00000328504.3_3'UTR			Q6RVD6	SPAT8_HUMAN	spermatogenesis associated 8	0										large_intestine(4)|lung(8)|ovary(1)|skin(3)	16	Melanoma(26;0.0142)|Lung NSC(78;0.041)|all_lung(78;0.0468)		OV - Ovarian serous cystadenocarcinoma(32;0.0718)			GATTTTTCAATAGTGTCCCTA	0.483													A	97328356	T	A	97328356	4	1	374	1	0	0	0	0	0	0	0	0	15111	1421	49	5		5	SPATA8	15	97328356	Nonstop_Mutation	SNP	T	TCGA-DU-6403-01A-11D-1705-08	51927234	97328356	5203036	47	39628											
MYH11	4629	broad.mit.edu	37	chr16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaatcaccttcatggCggtcagctgctgctgcctct	5	12	9	15	1	5	1	3	1	2	0	5	1	5	1	3	2	4	3	3	2	1	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr16:15839063C>T	ENST00000452625.2	-	21	2551	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_ENST00000300036.5_Missense_Mutation_p.A815T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000576790.2_Missense_Mutation_p.A815T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML								T	15839063	C	T	15839063	3	4	374	1	0	0	0	0	1	0	0	0	10107	768	27	1	3598	1	MYH11	16	15839063	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		15839063	74515690	48	39629											
DVL2	1856	broad.mit.edu	37	chr17	7130442	7130442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactgaggtctccgaagaCgtaatagcactgctcagaga	13	7	10	11	2	2	3	1	1	1	2	3	5	2	3	2	1	2	3	2	1	3	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:7130442C>T	ENST00000005340.5	-	13	1792	c.1510G>A	c.(1510-1512)Gtc>Atc	p.V504I	DVL2_ENST00000575458.1_Missense_Mutation_p.V498I	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	504	DEP.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TCTCCGAAGACGTAATAGCAC	0.587													T	7130442	C	T	7130442	3	4	374	1	0	0	0	0	1	0	0	0	4875	536	19	1	712	1	DVL2	17	7130442	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		7130442	74064768	49	39630											
MYOCD	93649	broad.mit.edu	37	chr17	12620681	12620681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctaaaaattccctgaagCgcaaagccagaaacaggtgc	16	5	10	10	1	0	2	0	1	0	1	1	2	1	2	2	2	4	2	2	2	6	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:12620681C>T	ENST00000425538.1	+	4	396	c.196C>T	c.(196-198)Cgc>Tgc	p.R66C	MYOCD_ENST00000343344.4_Missense_Mutation_p.R66C	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	66					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TTCCCTGAAGCGCAAAGCCAG	0.398													T	12620681	C	T	12620681	3	4	374	1	0	0	0	0	1	0	0	0	10163	768	27	1	210	1	MYOCD	17	12620681	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	5490239	12620681	68574529	50	39631											
KRT31	3881	broad.mit.edu	37	chr17	39553754	39553754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgggaggagcagctggtgCggcagctcaggctgggcagg	6	4	21	10	2	1	0	1	0	0	0	1	2	1	2	1	7	4	6	1	7	0	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr17:39553754C>T	ENST00000251645.2	-	1	90	c.38G>A	c.(37-39)cGc>cAc	p.R13H		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	13	Head.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				GCAGCTGGTGCGGCAGCTCAG	0.647													T	39553754	C	T	39553754	3	4	374	1	0	0	0	0	1	0	0	0	8525	768	27	1	1240	1	KRT31	17	39553754	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	26933073	39553754	41641456	51	39632											
NPC1	4864	broad.mit.edu	37	chr18	21115459	21115459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggttgaccaaggatacagCgttcagactgatgccccaga	12	7	11	11	1	1	4	1	2	0	2	1	5	1	5	3	2	3	2	3	2	2	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr18:21115459C>T	ENST00000269228.5	-	22	4005	c.3451G>A	c.(3451-3453)Gct>Act	p.A1151T	NPC1_ENST00000412552.2_Missense_Mutation_p.A833T	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1151					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					AAGGATACAGCGTTCAGACTG	0.512													T	21115459	C	T	21115459	3	4	374	1	0	0	0	0	1	0	0	0	10646	768	27	1	401	1	NPC1	18	21115459	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08		21115459	56961789	52	39633											
ATP8B3	148229	broad.mit.edu	37	chr19	1785228	1785228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtggtagtcatgatggcGtagaaaccaaggctgaggag	11	8	17	5	1	1	3	1	2	0	1	1	4	1	4	1	5	1	3	1	5	4	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:1785228G>A	ENST00000539485.1	-	27	3725	c.3492C>T	c.(3490-3492)taC>taT	p.Y1164Y	ATP8B3_ENST00000310127.6_Silent_p.Y1154Y|ATP8B3_ENST00000525591.1_Silent_p.Y1117Y			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1154					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		TCATGATGGCGTAGAAACCAA	0.597													A	1785228	G	A	1785228	2	1	374	1	0	0	0	0	0	0	0	1	1201	1140	40	1		1	ATP8B3	19	1785228	Silent	SNP	G	TCGA-DU-6403-01A-11D-1705-08		1785228	57343755	53	39634											
CYP4F3	4051	broad.mit.edu	37	chr19	15770103	15770103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgctgctgcgcttccgcGtcctgcctgaccacaccgag	5	8	10	18	5	1	1	1	1	0	0	3	2	3	1	5	0	3	3	5	0	0	1			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr19:15770103G>A	ENST00000221307.8	+	13	1518	c.1471G>A	c.(1471-1473)Gtc>Atc	p.V491I	CYP4F3_ENST00000585846.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000591058.1_Missense_Mutation_p.V491I|CYP4F3_ENST00000586182.2_Missense_Mutation_p.V491I	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding	p.V491L(1)		endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						GCGCTTCCGCGTCCTGCCTGA	0.672													A	15770103	G	A	15770103	3	1	374	1	0	0	0	0	1	0	0	0	4223	1145	40	1	1517	1	CYP4F3	19	15770103	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	13984875	15770103	43358880	54	39635											
MPPED1	758	broad.mit.edu	37	chr22	43870690	43870690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaccaggagttcatggccGacctcatcaagcaggacttt	10	10	10	11	1	3	1	3	1	0	0	3	4	3	3	3	3	1	2	3	3	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chr22:43870690G>A	ENST00000417669.2	+	4	925	c.481G>A	c.(481-483)Gac>Aac	p.D161N	MPPED1_ENST00000439548.1_Missense_Mutation_p.D3N|MPPED1_ENST00000538182.1_Missense_Mutation_p.D194N|MPPED1_ENST00000414469.2_Missense_Mutation_p.D55N|MPPED1_ENST00000443721.1_Missense_Mutation_p.D161N|MPPED1_ENST00000542779.1_Missense_Mutation_p.D161N			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GTTCATGGCCGACCTCATCAA	0.542													A	43870690	G	A	43870690	3	1	374	1	0	0	0	0	1	0	0	0	9817	1058	37	1	491	1	MPPED1	22	43870690	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		43870690	7433876	55	39636											
PHKA2	5256	broad.mit.edu	37	chrX	18912471	18912471	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtactcgggctgcggcacgcGgttcagcaccgattcgacat	7	8	13	13	6	1	0	1	0	0	0	3	2	1	0	1	3	3	5	1	3	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:18912471G>C	ENST00000379942.4	-	32	4053	c.3388C>G	c.(3388-3390)Cgc>Ggc	p.R1130G	PHKA2_ENST00000481718.1_5'UTR|PHKA2-AS1_ENST00000439295.1_RNA	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1130					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity	p.R1130C(1)		NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TGCGGCACGCGGTTCAGCACC	0.602													C	18912471	G	C	18912471	3	2	374	1	0	0	0	0	1	0	0	0	11921	1116	39	4	327	4	PHKA2	23	18912471	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08		18912471	136358089	56	39637											
CYBB	1536	broad.mit.edu	37	chrX	37660587	37660587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttggcgatctcaacagaagGtggtcatcaccaaggtactg	11	10	11	9	1	3	1	3	0	1	1	4	2	3	1	1	4	2	1	1	4	4	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:37660587G>C	ENST00000378588.4	+	8	950	c.883G>C	c.(883-885)Gtg>Ctg	p.V295L	CYBB_ENST00000536160.1_Missense_Mutation_p.V28L|TM4SF2_ENST00000465127.1_Intron|CYBB_ENST00000545017.1_Missense_Mutation_p.V263L|CYBB_ENST00000492288.1_3'UTR	NM_000397.3	NP_000388.2	P04839	CY24B_HUMAN	cytochrome b-245, beta polypeptide	295	FAD-binding FR-type.				electron transport chain|inflammatory response|innate immune response|respiratory burst|superoxide anion generation	NADPH oxidase complex	electron carrier activity|flavin adenine dinucleotide binding|heme binding|protein heterodimerization activity|superoxide-generating NADPH oxidase activity|voltage-gated ion channel activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|prostate(2)|skin(2)	32						TCAACAGAAGGTGGTCATCAC	0.418													C	37660587	G	C	37660587	3	2	374	1	0	0	0	0	1	0	0	0	4166	1261	44	4	913	4	CYBB	23	37660587	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	18748116	37660587	117609973	57	39638											
BCOR	54880	broad.mit.edu	37	chrX	39933842	39933842	+	Missense_Mutation	SNP	C	C	T																															cgatgggatgtggggaccgaCgtagtgaggtggcggcaggt																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933842C>T	ENST00000342274.4	-	4	1119	c.757G>A	c.(757-759)Gtc>Atc	p.V253I	BCOR_ENST00000378455.4_Missense_Mutation_p.V253I|BCOR_ENST00000397354.3_Missense_Mutation_p.V253I|BCOR_ENST00000378444.4_Missense_Mutation_p.V253I	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	253					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGGGACCGACGTAGTGAGGT	0.612			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39933842	C	T	39933842	3	4	374	1	0	0	0	0	1	0	0	0	1391	536	19	1	4558	1	BCOR	23	39933842	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	2273255	39933842	115336718	58	39639	129	2									
BCOR	54880	broad.mit.edu	37	chrX	39933843	39933843	+	Nonsense_Mutation	SNP	G	G	T																															gatgggatgtggggaccgacGtagtgaggtggcggcaggta																										TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:39933843G>T	ENST00000342274.4	-	4	1118	c.756C>A	c.(754-756)taC>taA	p.Y252*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.Y252*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.Y252*|BCOR_ENST00000378444.4_Nonsense_Mutation_p.Y252*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	252					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GGGGACCGACGTAGTGAGGTG	0.607			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39933843	G	T	39933843	4	4	374	1	0	0	0	0	0	1	0	0	1391	1140	40	4	4559	4	BCOR	23	39933843	Nonsense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	1	39933843	115336717	59	39640	129	2									
PCDH19	57526	broad.mit.edu	37	chrX	99662058	99662058	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgcagcgcgtagatgtcgCctgagttgggattgatggag	8	10	16	7	4	0	3	0	2	0	1	2	5	0	5	1	2	1	3	1	2	1	3			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:99662058C>A	ENST00000373034.4	-	1	3213	c.1538G>T	c.(1537-1539)gGc>gTc	p.G513V	PCDH19_ENST00000420881.2_Missense_Mutation_p.G513V|PCDH19_ENST00000255531.7_Missense_Mutation_p.G513V	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	513	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTAGATGTCGCCTGAGTTGGG	0.587													A	99662058	C	A	99662058	3	1	374	1	0	0	0	0	1	0	0	0	11590	739	26	4	1932	4	PCDH19	23	99662058	Missense_Mutation	SNP	C	TCGA-DU-6403-01A-11D-1705-08	59728215	99662058	55608502	60	39641											
TFDP3	51270	broad.mit.edu	37	chrX	132351926	132351926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccctttcctctgcaccGtctcccagaccttcatggaa	6	12	7	16	1	3	1	1	0	2	1	6	2	5	2	5	2	1	1	5	2	1	2			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:132351926G>A	ENST00000310125.4	-	1	450	c.362C>T	c.(361-363)aCg>aTg	p.T121M		NM_016521.2	NP_057605.3	Q5H9I0	TFDP3_HUMAN	transcription factor Dp family, member 3	121		Critical for repression of E2F activity.				transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(1)|lung(8)|ovary(1)|prostate(2)	19	Acute lymphoblastic leukemia(192;0.000127)					CCTCTGCACCGTCTCCCAGAC	0.592													A	132351926	G	A	132351926	3	1	374	1	0	0	0	0	1	0	0	0	15899	1145	40	1	859	1	TFDP3	23	132351926	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	32689868	132351926	22918634	61	39642											
AFF2	2334	broad.mit.edu	37	chrX	148069037	148069037	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcactagcaatgtgttacGgggctatgaacactgggata	12	10	11	8	1	1	1	1	1	0	0	1	2	1	2	0	3	3	3	0	3	6	4			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:148069037G>T	ENST00000370460.2	+	20	4243	c.3764G>T	c.(3763-3765)cGg>cTg	p.R1255L	AFF2_ENST00000370457.5_Missense_Mutation_p.R1220L|AFF2_ENST00000286437.5_Missense_Mutation_p.R896L|AFF2_ENST00000342251.3_Missense_Mutation_p.R1222L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1255					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AATGTGTTACGGGGCTATGAA	0.483													T	148069037	G	T	148069037	3	4	374	1	0	0	0	0	1	0	0	0	357	1116	39	4	3897	4	AFF2	23	148069037	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	15717111	148069037	7201523	62	39643											
L1CAM	3897	broad.mit.edu	37	chrX	153133300	153133300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaggactccaggacacgcGcacctggctctgcgtcagca	8	6	12	15	3	2	0	1	0	1	0	3	2	3	2	2	3	3	4	2	3	0	0			TCGA-DU-6403-01A-11D-1705-08	TCGA-DU-6403-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5d48a626-5f15-4f2d-8ca9-947b7d39146a	1ae82b76-b781-4d6e-a0da-ba341056fe11	g.chrX:153133300G>A	ENST00000370060.1	-	16	2083	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C	L1CAM_ENST00000370055.1_Missense_Mutation_p.R627C|L1CAM_ENST00000538883.1_Missense_Mutation_p.R634C|L1CAM_ENST00000361699.4_Missense_Mutation_p.R632C|L1CAM_ENST00000361981.3_Missense_Mutation_p.R627C|L1CAM_ENST00000543994.1_Missense_Mutation_p.R634C|L1CAM_ENST00000370057.3_Missense_Mutation_p.R632C	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	632	Fibronectin type-III 1.		R -> P (in MASA).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R632S(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CAGGACACGCGCACCTGGCTC	0.667													A	153133300	G	A	153133300	3	1	374	1	0	0	0	0	1	0	0	0	8647	1087	38	1	1935	1	L1CAM	23	153133300	Missense_Mutation	SNP	G	TCGA-DU-6403-01A-11D-1705-08	5064263	153133300	2137260	63	39644											
MAGI3	260425	broad.mit.edu	37	chr1	114123223	114123223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggattataatttcatttccGttgaacagttcaaagcactg	12	15	7	7	1	2	1	2	1	0	0	3	2	3	2	1	1	2	3	1	1	4	6			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr1:114123223G>A	ENST00000369615.1	+	3	555	c.493G>A	c.(493-495)Gtt>Att	p.V165I	MAGI3_ENST00000369611.4_Missense_Mutation_p.V165I|MAGI3_ENST00000369617.4_Missense_Mutation_p.V165I|MAGI3_ENST00000307546.9_Missense_Mutation_p.V165I|MAGI3_ENST00000486456.1_3'UTR	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	165	Guanylate kinase-like.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTTCATTTCCGTTGAACAGTT	0.393													A	114123223	G	A	114123223	3	1	375	1	0	0	0	0	1	0	0	0	9267	1145	40	1	503	1	MAGI3	1	114123223	Missense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		114123223	135127398	1	39645											
FMNL2	114793	broad.mit.edu	37	chr2	153473700	153473700	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggaacaaggagctggatgtCgttcgggtaagtgtaatgat	12	10	15	4	2	0	1	0	1	0	0	2	4	0	4	0	4	2	4	0	4	4	3			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr2:153473700C>T	ENST00000288670.9	+	13	1675	c.1308C>T	c.(1306-1308)gtC>gtT	p.V436V		NM_052905.3	NP_443137.2	Q96PY5	FMNL2_HUMAN	formin-like 2	436	GBD/FH3.				actin cytoskeleton organization	cytoplasm	actin binding|Rho GTPase binding			central_nervous_system(2)|endometrium(3)|large_intestine(5)|liver(2)|lung(3)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	23						AGCTGGATGTCGTTCGGGTAA	0.473													T	153473700	C	T	153473700	2	4	375	1	0	0	0	0	0	0	0	1	6001	871	31	1		1	FMNL2	2	153473700	Silent	SNP	C	TCGA-DU-6404-01A-11D-1705-08		153473700	89725673	2	39646											
KALRN	8997	broad.mit.edu	37	chr3	124053129	124053129	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtcagccaggatggcaaAgcactacttgatgtgctgca	11	8	12	10	0	1	1	1	1	0	0	1	2	1	2	1	3	5	4	1	3	2	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr3:124053129A>C	ENST00000360013.3	+	9	1555	c.1428A>C	c.(1426-1428)aaA>aaC	p.K476N	KALRN_ENST00000460856.1_Missense_Mutation_p.K476N|KALRN_ENST00000240874.3_Missense_Mutation_p.K476N	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	476					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AGGATGGCAAAGCACTACTTG	0.572													C	124053129	A	C	124053129	3	2	375	1	0	0	0	0	1	0	0	0	8033	69	3	5	1462	5	KALRN	3	124053129	Missense_Mutation	SNP	A	TCGA-DU-6404-01A-11D-1705-08		124053129	73969301	3	39647											
ACOX3	8310	broad.mit.edu	37	chr4	8396382	8396382	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcccgatgcaagtcctcGctggagctccaccaggtcca	7	8	10	16	2	1	0	0	0	1	0	6	2	4	1	5	2	2	3	5	2	1	0	rs142042116		TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:8396382G>A	ENST00000356406.5	-	10	1221	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	ACOX3_ENST00000503233.1_Nonsense_Mutation_p.R382*|ACOX3_ENST00000413009.2_Nonsense_Mutation_p.R382*	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	382					bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						GCAAGTCCTCGCTGGAGCTCC	0.542													A	8396382	G	A	8396382	4	1	375	1	0	0	0	0	0	1	0	0	160	1095	38	1	994	1	ACOX3	4	8396382	Nonsense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		8396382	182757894	4	39648											
SPP1	6696	broad.mit.edu	37	chr4	88901213	88901213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtagctttacaacaaatacCcagatgctgtggccacatgg	12	10	9	10	0	0	1	0	0	0	1	0	1	0	1	2	2	5	3	2	2	5	4			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr4:88901213C>T	ENST00000237623.7	+	4	257	c.109C>T	c.(109-111)Cca>Tca	p.P37S	SPP1_ENST00000395080.3_Missense_Mutation_p.P37S|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000360804.4_Intron	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	37					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		CAACAAATACCCAGATGCTGT	0.363													T	88901213	C	T	88901213	3	4	375	1	0	0	0	0	1	0	0	0	15182	623	22	2	119	2	SPP1	4	88901213	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	80504831	88901213	102253063	5	39649											
ATG5	9474	broad.mit.edu	37	chr6	106764059	106764059	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgtccaaaccacacatctcGaagcacatctttgtcatctg	11	11	5	14	2	4	0	1	0	3	0	7	1	5	0	2	0	2	1	2	0	2	1			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr6:106764059G>A	ENST00000369076.3	-	2	348	c.25C>T	c.(25-27)Cga>Tga	p.R9*	ATG5_ENST00000369070.1_5'UTR|ATG5_ENST00000360666.4_Nonsense_Mutation_p.R9*|ATG5_ENST00000343245.3_Nonsense_Mutation_p.R9*	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	9					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		CACACATCTCGAAGCACATCT	0.368													A	106764059	G	A	106764059	4	1	375	1	0	0	0	0	0	1	0	0	1105	1066	37	1	830	1	ATG5	6	106764059	Nonsense_Mutation	SNP	G	TCGA-DU-6404-01A-11D-1705-08		106764059	64351008	6	39650											
CTSG	1511	broad.mit.edu	37	chr14	25043508	25043508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaatctgccttcgggggtcGtaggaaccgaagatgcggag	10	7	15	9	4	1	1	0	0	1	1	3	4	1	3	2	4	3	1	2	4	4	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr14:25043508G>A	ENST00000216336.2	-	4	573	c.537C>T	c.(535-537)taC>taT	p.Y179Y		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	179	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.Y179Y(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		TTCGGGGGTCGTAGGAACCGA	0.627													A	25043508	G	A	25043508	2	1	375	1	0	0	0	0	0	0	0	1	4068	1140	40	1		1	CTSG	14	25043508	Silent	SNP	G	TCGA-DU-6404-01A-11D-1705-08		25043508	82306032	7	39651											
SLC25A19	60386	broad.mit.edu	37	chr17	73282427	73282427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaatctgagctgggacGtgtcctttccagaaagctgt	10	10	13	8	1	1	3	0	1	1	2	3	6	3	4	2	1	2	2	2	1	2	1			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr17:73282427G>A	ENST00000402418.3	-	2	1155	c.246C>T	c.(244-246)caC>caT	p.H82H	SLC25A19_ENST00000416858.2_Silent_p.H82H|SLC25A19_ENST00000320362.3_Silent_p.H82H|SLC25A19_ENST00000375261.4_Silent_p.H82H|SLC25A19_ENST00000580994.1_Silent_p.H82H|SLC25A19_ENST00000442286.2_Silent_p.H82H			Q9HC21	TPC_HUMAN	solute carrier family 25 (mitochondrial thiamine pyrophosphate carrier), member 19	82						integral to membrane|mitochondrial inner membrane	binding|deoxynucleotide transmembrane transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_cancers(13;5.98e-08)|all_epithelial(9;1.16e-08)|Breast(9;3.1e-08)		all cancers(21;6.82e-07)|Epithelial(20;6.86e-06)			GAGCTGGGACGTGTCCTTTCC	0.592													A	73282427	G	A	73282427	2	1	375	1	0	0	0	0	0	0	0	1	14575	1136	40	1		1	SLC25A19	17	73282427	Silent	SNP	G	TCGA-DU-6404-01A-11D-1705-08		73282427	7912783	8	39652											
FPR1	2357	broad.mit.edu	37	chr19	52250087	52250087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgactgtgtgtgtcatcCggaatccagccacccagatc	8	10	11	12	1	1	2	1	1	0	1	4	3	3	3	4	2	1	0	4	2	1	0	rs145808420		TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chr19:52250087C>T	ENST00000595042.1	-	3	302	c.161G>A	c.(160-162)cGg>cAg	p.R54Q	FPR1_ENST00000304748.4_Missense_Mutation_p.R54Q	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	54					activation of MAPK activity|cellular component movement|chemotaxis|G-protein signaling, coupled to cAMP nucleotide second messenger|nitric oxide mediated signal transduction	endosome|integral to membrane|plasma membrane	N-formyl peptide receptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GTGTGTCATCCGGAATCCAGC	0.527													T	52250087	C	T	52250087	3	4	375	1	0	0	0	0	1	0	0	0	6089	652	23	1	895	1	FPR1	19	52250087	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08		52250087	6878896	9	39653											
TRO	7216	broad.mit.edu	37	chrX	54953051	54953051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgcgcaagttggggctgCgccctgggtatgactgggct	4	10	17	10	2	0	1	0	1	0	0	0	1	0	1	1	4	3	6	1	4	2	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:54953051C>T	ENST00000173898.7	+	9	1805	c.1693C>T	c.(1693-1695)Cgc>Tgc	p.R565C	TRO_ENST00000375022.4_Missense_Mutation_p.R565C|TRO_ENST00000319167.8_Missense_Mutation_p.R565C|TRO_ENST00000399736.1_Missense_Mutation_p.R168C|TRO_ENST00000375041.2_Missense_Mutation_p.R168C|TRO_ENST00000420798.2_Missense_Mutation_p.R96C	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	565	MAGE.				embryo implantation|homophilic cell adhesion	integral to plasma membrane				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GTTGGGGCTGCGCCCTGGGTA	0.577													T	54953051	C	T	54953051	3	4	375	1	0	0	0	0	1	0	0	0	16675	768	27	1	1723	1	TRO	23	54953051	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08		54953051	100317509	10	39654											
KLHL13	90293	broad.mit.edu	37	chrX	117043975	117043975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaaattcttcaagaCgaaactgttaacgtatttat	15	13	7	6	2	2	1	1	0	1	1	2	3	2	2	0	1	3	3	0	1	7	6			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:117043975C>T	ENST00000371876.1	-	4	2923	c.502G>A	c.(502-504)Gtc>Atc	p.V168I	KLHL13_ENST00000371878.1_Missense_Mutation_p.V168I|KLHL13_ENST00000545703.1_Missense_Mutation_p.V177I|KLHL13_ENST00000469946.1_Missense_Mutation_p.V168I|KLHL13_ENST00000262820.3_Missense_Mutation_p.V219I|KLHL13_ENST00000371882.1_Missense_Mutation_p.V168I|KLHL13_ENST00000540167.1_Missense_Mutation_p.V203I|KLHL13_ENST00000541812.1_Missense_Mutation_p.V203I|KLHL13_ENST00000539496.1_Missense_Mutation_p.V222I			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	219					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TTCTTCAAGACGAAACTGTTA	0.423													T	117043975	C	T	117043975	3	4	375	1	0	0	0	0	1	0	0	0	8427	536	19	1	1324	1	KLHL13	23	117043975	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	62090924	117043975	38226585	11	39655											
G6PD	2539	broad.mit.edu	37	chrX	153761826	153761826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgagttggtggaggCgggcttctccatggccacca	6	10	14	11	1	3	1	1	1	2	0	4	2	3	2	3	5	0	2	3	5	0	2			TCGA-DU-6404-01A-11D-1705-08	TCGA-DU-6404-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2b5382c-99ce-4fe0-aafb-4dc893198379	1895ec32-d356-44f2-94e4-7e43bf8ea156	g.chrX:153761826C>T	ENST00000393562.2	-	8	1302	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	G6PD_ENST00000393564.2_Missense_Mutation_p.A277T|G6PD_ENST00000369620.2_Missense_Mutation_p.A323T	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	277					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTGGTGGAGGCGGGCTTCTCC	0.637													T	153761826	C	T	153761826	3	4	375	1	0	0	0	0	1	0	0	0	6198	768	27	1	742	1	G6PD	23	153761826	Missense_Mutation	SNP	C	TCGA-DU-6404-01A-11D-1705-08	36717851	153761826	1508734	12	39656											
OTUD3	23252	broad.mit.edu	37	chr1	20216922	20216923	+	Frame_Shift_Ins	INS	-	-	A																															gatcaattggagggacactcINSacgaaatcatctcaagcaca																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:20216922_20216923insA	ENST00000375120.3	+	2	267_268	c.266_267insA	c.(265-270)tcacgafs	p.R90fs		NM_015207.1	NP_056022.1	Q5T2D3	OTUD3_HUMAN	OTU domain containing 3	90	OTU.									breast(1)|kidney(2)|large_intestine(4)|lung(1)|skin(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000276)|Lung NSC(340;0.000338)|Breast(348;0.000812)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.12e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000142)|Kidney(64;0.000177)|GBM - Glioblastoma multiforme(114;0.000408)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GAGGGACACTCACGAAATCATC	0.416													A	20216923	-	A	20216922	7	5	376	1	0	1	1	0	0	0	0	0	11389	838	29	0	272	0	OTUD3	1	20216922	Frame_Shift_Ins	INS	-	TCGA-DU-6405-01A-11D-1705-08		20216922	229033699	1	39657											
MYOM3	127294	broad.mit.edu	37	chr1	24387556	24387556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcggccgacttactcttctCgatgatggccaaggttctga	8	12	10	11	3	3	2	0	2	3	0	5	4	3	2	2	3	1	1	2	3	2	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:24387556C>T	ENST00000330966.7	-	35	4159	c.3997G>A	c.(3997-3999)Gag>Aag	p.E1333K	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.E223K|MYOM3_ENST00000374434.3_Missense_Mutation_p.E1330K			Q5VTT5	MYOM3_HUMAN	myomesin 3	1330										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TTACTCTTCTCGATGATGGCC	0.488													T	24387556	C	T	24387556	3	4	376	1	0	0	0	0	1	0	0	0	10169	893	31	1	337	1	MYOM3	1	24387556	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	4170634	24387556	224863065	2	39658											
LINGO4	339398	broad.mit.edu	37	chr1	151774674	151774674	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggcccccggagccacaaaTaccaggtggttgtccccaac	11	5	10	15	1	0	0	0	0	0	0	1	1	1	1	6	4	3	1	6	4	4	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:151774674T>C	ENST00000368820.3	-	2	1444	c.507A>G	c.(505-507)gtA>gtG	p.V169V		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	169						integral to membrane				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GAGCCACAAATACCAGGTGGT	0.607													C	151774674	T	C	151774674	2	2	376	1	0	0	0	0	0	0	0	1	8878	1393	49	3		3	LINGO4	1	151774674	Silent	SNP	T	TCGA-DU-6405-01A-11D-1705-08	127387118	151774674	97475947	3	39659											
OLFML2B	25903	broad.mit.edu	37	chr1	161967984	161967984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgctgaggaccagggtgCggtccgagcgttcaggtcgc	6	7	17	11	4	1	1	1	1	0	0	3	3	2	2	2	4	3	2	2	4	0	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr1:161967984C>T	ENST00000294794.3	-	6	1528	c.1105G>A	c.(1105-1107)Gca>Aca	p.A369T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A370T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	369								p.A369T(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GACCAGGGTGCGGTCCGAGCG	0.627													T	161967984	C	T	161967984	3	4	376	1	0	0	0	0	1	0	0	0	10934	768	27	1	1159	1	OLFML2B	1	161967984	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	10193310	161967984	87282637	4	39660											
TPO	7173	broad.mit.edu	37	chr2	1459909	1459909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtcacagatgatgaccGctattctgacctcctgatgg	8	12	11	10	1	2	5	1	4	1	1	3	5	3	5	3	2	0	2	3	2	1	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:1459909G>A	ENST00000345913.4	+	7	765	c.674G>A	c.(673-675)cGc>cAc	p.R225H	TPO_ENST00000346956.3_Missense_Mutation_p.R225H|TPO_ENST00000497517.2_Intron|TPO_ENST00000337415.3_Missense_Mutation_p.R225H|TPO_ENST00000329066.4_Missense_Mutation_p.R225H|TPO_ENST00000349624.3_Missense_Mutation_p.R225H|TPO_ENST00000382201.3_Missense_Mutation_p.R225H|TPO_ENST00000382198.1_Missense_Mutation_p.R225H	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	225					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GATGATGACCGCTATTCTGAC	0.537													A	1459909	G	A	1459909	3	1	376	1	0	0	0	0	1	0	0	0	16511	1087	38	1	696	1	TPO	2	1459909	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		1459909	241739464	5	39661											
ITGA4	3676	broad.mit.edu	37	chr2	182396426	182396426	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtttaaatttcttgtgtAattttgggaaaatggaaagt	13	18	9	1	0	1	0	0	0	1	0	1	2	1	2	0	2	0	2	0	2	6	8			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:182396426A>G	ENST00000397033.2	+	25	3137	c.2707A>G	c.(2707-2709)Aat>Gat	p.N903D		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	903					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TTTCTTGTGTAATTTTGGGAA	0.323													G	182396426	A	G	182396426	3	3	376	1	0	0	0	0	1	0	0	0	7936	362	13	3	2805	3	ITGA4	2	182396426	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08	180936517	182396426	60802947	6	39662											
HSPD1	3329	broad.mit.edu	37	chr2	198353171	198353174	+	Frame_Shift_Del	DEL	TCTG	TCTG	-																															gcattaagggcatctgtaacTctgtctttcttttcattcac																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:198353171_198353174delTCTG	ENST00000388968.3	-	10	1524_1527	c.1257_1260delCAGA	c.(1255-1260)gacagafs	p.DR419fs	HSPD1_ENST00000345042.2_Frame_Shift_Del_p.DR419fs	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	419					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CATCTGTAACTCTGTCTTTCTTTT	0.441													-	198353174	TCTG	-	198353171	7	5	376	1	0	1	0	1	0	0	0	0	7486	1548	54	0	473	0	HSPD1	2	198353171	Frame_Shift_Del	DEL	TCTG	TCGA-DU-6405-01A-11D-1705-08	15956745	198353171	44846202	7	39663											
ALPPL2	251	broad.mit.edu	37	chr2	233273520	233273520	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctcctgctgagcaggaaCccccgcggcttcttcctctt	4	11	9	17	2	2	1	0	1	2	0	4	2	4	2	4	2	4	4	4	2	1	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233273520C>A	ENST00000295453.3	+	8	1015	c.963C>A	c.(961-963)aaC>aaA	p.N321K		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	321					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	TGAGCAGGAACCCCCGCGGCT	0.642													A	233273520	C	A	233273520	3	1	376	1	0	0	0	0	1	0	0	0	549	506	18	4	993	4	ALPPL2	2	233273520	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	34920349	233273520	9925853	8	39664											
GIGYF2	26058	broad.mit.edu	37	chr2	233674460	233674460	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggaacgactgaccaggCagcaagaactcacagcctta	15	4	9	13	1	1	2	1	1	0	1	1	4	1	3	3	2	4	2	3	2	4	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:233674460C>T	ENST00000373566.3	+	17	2100	c.1903C>T	c.(1903-1905)Cag>Tag	p.Q635*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q634*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q607*|GIGYF2_ENST00000452341.2_Nonsense_Mutation_p.Q444*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q613*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q635*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	613	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		ACTGACCAGGCAGCAAGAACT	0.433													T	233674460	C	T	233674460	4	4	376	1	0	0	0	0	0	1	0	0	6434	711	25	2	1961	2	GIGYF2	2	233674460	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	400940	233674460	9524913	9	39665											
ASB1	51665	broad.mit.edu	37	chr2	239344637	239344637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgtgggccgggcagacatCctgaaggccctcatcaggcc	7	5	14	15	3	2	2	2	1	0	1	3	2	3	2	4	4	0	1	4	4	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr2:239344637C>A	ENST00000264607.4	+	3	724	c.477C>A	c.(475-477)atC>atA	p.I159I	ASB1_ENST00000409297.1_Intron	NM_001040445.1	NP_001035535.1	Q9Y576	ASB1_HUMAN	ankyrin repeat and SOCS box containing 1	159					intracellular signal transduction|negative regulation of cytokine biosynthetic process					breast(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	8		all_epithelial(40;2.65e-14)|Breast(86;7.61e-05)|Renal(207;0.00183)|all_lung(227;0.0283)|Ovarian(221;0.0365)|Lung NSC(271;0.0941)|all_hematologic(139;0.158)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;2.04e-26)|OV - Ovarian serous cystadenocarcinoma(60;4.5e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;6.5e-08)|BRCA - Breast invasive adenocarcinoma(100;2.88e-05)|Lung(119;0.000383)|LUSC - Lung squamous cell carcinoma(224;0.00644)		GGGCAGACATCCTGAAGGCCC	0.567													A	239344637	C	A	239344637	2	1	376	1	0	0	0	0	0	0	0	1	1018	845	30	4		4	ASB1	2	239344637	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5670177	239344637	3854736	10	39666											
FGD5	152273	broad.mit.edu	37	chr3	14862336	14862336	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacaatctctctctgtcGtgtgtaattggctcctctgg	6	14	11	10	1	3	0	0	0	3	0	7	2	4	1	1	3	0	2	1	3	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:14862336G>A	ENST00000285046.5	+	1	1868	c.1758G>A	c.(1756-1758)tcG>tcA	p.S586S	FGD5_ENST00000543601.1_Silent_p.S345S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	586					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TCTCTCTGTCGTGTGTAATTG	0.557													A	14862336	G	A	14862336	2	1	376	1	0	0	0	0	0	0	0	1	5885	1132	40	1		1	FGD5	3	14862336	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08		14862336	183160094	11	39667											
WDR6	11180	broad.mit.edu	37	chr3	49049692	49049692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaaggtgggcgacctgcGagtgcctgggggtcgggtgc	4	7	21	9	3	0	0	0	0	0	0	1	3	0	1	2	6	3	0	2	6	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:49049692G>A	ENST00000395474.3	+	2	1095	c.815G>A	c.(814-816)cGa>cAa	p.R272Q	WDR6_ENST00000489684.1_3'UTR|WDR6_ENST00000415265.2_Intron|WDR6_ENST00000608424.1_Missense_Mutation_p.R242Q|WDR6_ENST00000448293.1_Missense_Mutation_p.R191Q	NM_018031.3	NP_060501.3	Q9NNW5	WDR6_HUMAN	WD repeat domain 6	242					cell cycle arrest|negative regulation of cell proliferation	cytoplasm				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|liver(1)|lung(9)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	26				Kidney(197;9.12e-07)|KIRC - Kidney renal clear cell carcinoma(197;1.32e-05)|BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000155)		GGCGACCTGCGAGTGCCTGGG	0.552													A	49049692	G	A	49049692	3	1	376	1	0	0	0	0	1	0	0	0	17412	1058	37	1	821	1	WDR6	3	49049692	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	34187356	49049692	148972738	12	39668											
HEG1	57493	broad.mit.edu	37	chr3	124692589	124692589	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acacaccgagtagtacacatCcgtcatctggaggaggtttt	11	10	10	10	2	2	0	1	0	1	0	3	3	3	2	2	3	1	3	2	3	2	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:124692589C>A	ENST00000311127.4	-	16	4049	c.3982G>T	c.(3982-3984)Gat>Tat	p.D1328Y		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	1328						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						TAGTACACATCCGTCATCTGG	0.463													A	124692589	C	A	124692589	3	1	376	1	0	0	0	0	1	0	0	0	7099	855	30	4	171	4	HEG1	3	124692589	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	75642897	124692589	73329841	13	39669											
SI	6476	broad.mit.edu	37	chr3	164741401	164741401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatatttcacctccacaCgaagagttgagatggggtca	11	11	11	8	1	2	3	2	2	0	2	3	5	3	3	2	2	0	1	2	2	2	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:164741401C>T	ENST00000264382.3	-	26	3118	c.3056G>A	c.(3055-3057)cGt>cAt	p.R1019H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	1019	Sucrase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CACCTCCACACGAAGAGTTGA	0.388										HNSCC(35;0.089)			T	164741401	C	T	164741401	3	4	376	1	0	0	0	0	1	0	0	0	14391	536	19	1	2519	1	SI	3	164741401	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	40048812	164741401	33281029	14	39670											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	5	1	376	1	0	0	0	0	0	0	1	0	11990	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-DU-6405-01A-11D-1705-08	14176077	178917478	19104952	15	39671											
RNF150	57484	broad.mit.edu	37	chr4	141888953	141888953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtacattgtcacggtgaTgtttctttccagcaggctta	8	15	10	8	1	2	1	1	1	1	0	3	2	3	1	1	2	2	4	1	2	2	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:141888953T>C	ENST00000515673.2	-	2	592	c.559A>G	c.(559-561)Atc>Gtc	p.I187V	RNF150_ENST00000507500.1_Missense_Mutation_p.I187V|RNF150_ENST00000515057.1_5'UTR|RNF150_ENST00000306799.3_Missense_Mutation_p.I187V|RNF150_ENST00000379512.2_Missense_Mutation_p.I46V|RNF150_ENST00000420921.2_Missense_Mutation_p.I46V			Q9ULK6	RN150_HUMAN	ring finger protein 150							integral to membrane	zinc ion binding			breast(1)|large_intestine(10)|lung(7)|ovary(1)	19	all_hematologic(180;0.162)					GTCACGGTGATGTTTCTTTCC	0.488													C	141888953	T	C	141888953	3	2	376	1	0	0	0	0	1	0	0	0	13542	1464	51	3	781	3	RNF150	4	141888953	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08		141888953	49265323	16	39672											
MND1	84057	broad.mit.edu	37	chr4	154335914	154335914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctttatagataacatattcGcaataaaatcttgggccaaa	16	13	5	7	1	2	1	0	0	2	1	3	1	2	1	1	1	1	1	1	1	8	8			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:154335914G>A	ENST00000240488.3	+	8	612	c.523G>A	c.(523-525)Gca>Aca	p.A175T		NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	175					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					TAACATATTCGCAATAAAATC	0.249													A	154335914	G	A	154335914	3	1	376	1	0	0	0	0	1	0	0	0	9751	1087	38	1	553	1	MND1	4	154335914	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	12446961	154335914	36818362	17	39673											
TRIML1	339976	broad.mit.edu	37	chr4	189068521	189068521	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcactgaacagccacGtctgaggggcgtgccctgag	7	8	13	13	2	3	3	1	3	2	0	3	3	3	3	2	2	4	1	2	2	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr4:189068521G>A	ENST00000332517.3	+	6	1542	c.1402G>A	c.(1402-1404)Gtc>Atc	p.V468I	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	468	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GAACAGCCACGTCTGAGGGGC	0.542													A	189068521	G	A	189068521	3	1	376	1	0	0	0	0	1	0	0	0	16651	1145	40	1	1424	1	TRIML1	4	189068521	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	34732607	189068521	2085755	18	39674											
ADAMTS16	170690	broad.mit.edu	37	chr5	5237184	5237184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatgctcggaggatagccGtaatgtttgtatagatggga	10	12	13	6	2	0	1	0	0	0	1	2	4	1	4	2	3	2	4	2	3	4	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:5237184G>A	ENST00000274181.7	+	14	2264	c.2126G>A	c.(2125-2127)cGt>cAt	p.R709H	ADAMTS16_ENST00000513709.1_Intron	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	709	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GAGGATAGCCGTAATGTTTGT	0.403													A	5237184	G	A	5237184	3	1	376	1	0	0	0	0	1	0	0	0	261	1145	40	1	2180	1	ADAMTS16	5	5237184	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		5237184	175678076	19	39675											
CDH6	1004	broad.mit.edu	37	chr5	31323148	31323148	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccttttcctaccccgacgGactccaacagctcgcgacaa	9	7	7	18	4	0	0	0	0	0	0	3	3	2	1	5	1	3	1	5	1	3	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:31323148G>T	ENST00000265071.2	+	12	2371	c.2106G>T	c.(2104-2106)cgG>cgT	p.R702R		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	702					adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TACCCCGACGGACTCCAACAG	0.522													T	31323148	G	T	31323148	2	4	376	1	0	0	0	0	0	0	0	1	3144	1161	41	4		4	CDH6	5	31323148	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	26085964	31323148	149592112	20	39676											
HCN1	348980	broad.mit.edu	37	chr5	45267295	45267295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggaaagtgagtaaagaCgacaatatgtatcagctcga	16	7	10	8	3	1	2	1	1	0	1	2	5	1	3	1	1	1	3	1	1	6	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:45267295C>T	ENST00000303230.4	-	7	1736	c.1679G>A	c.(1678-1680)cGt>cAt	p.R560H		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	560						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGAGTAAAGACGACAATATGT	0.433													T	45267295	C	T	45267295	3	4	376	1	0	0	0	0	1	0	0	0	7051	536	19	1	1001	1	HCN1	5	45267295	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	13944147	45267295	135647965	21	39677											
HSPB3	8988	broad.mit.edu	37	chr5	53751847	53751847	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcagatcctgctggaCgtggtccagttcctccctga	6	12	9	14	1	1	2	1	1	0	1	5	3	5	3	4	2	1	2	4	2	0	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:53751847C>T	ENST00000302005.1	+	1	403	c.228C>T	c.(226-228)gaC>gaT	p.D76D		NM_006308.2	NP_006299.1	Q12988	HSPB3_HUMAN	heat shock 27kDa protein 3	76					cell death|response to heat|response to unfolded protein	cytoplasm|nucleus				breast(1)|large_intestine(4)|prostate(3)	8		Lung NSC(810;0.00104)				TCCTGCTGGACGTGGTCCAGT	0.547													T	53751847	C	T	53751847	2	4	376	1	0	0	0	0	0	0	0	1	7478	535	19	1		1	HSPB3	5	53751847	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	8484552	53751847	127163413	22	39678											
GRXCR2	643226	broad.mit.edu	37	chr5	145252495	145252495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactttccggggtttgccatCactcttctgattcagctttt	5	18	7	11	1	4	1	2	1	2	0	5	1	5	1	2	2	3	2	2	2	1	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:145252495C>T	ENST00000377976.1	-	1	36	c.37G>A	c.(37-39)Gat>Aat	p.D13N		NM_001080516.1	NP_001073985.1	A6NFK2	GRCR2_HUMAN	glutaredoxin, cysteine rich 2	13										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGTTTGCCATCACTCTTCTGA	0.507													T	145252495	C	T	145252495	3	4	376	1	0	0	0	0	1	0	0	0	6868	826	29	2	721	2	GRXCR2	5	145252495	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	91500648	145252495	35662765	23	39679											
SGCD	6444	broad.mit.edu	37	chr5	155771587	155771587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggatttatggctggcGgaaacgatgcctgtatttct	7	13	15	6	2	1	0	0	0	1	0	1	3	1	2	1	6	2	2	1	6	3	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:155771587G>A	ENST00000435422.3	+	2	576	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SGCD_ENST00000447401.1_Missense_Mutation_p.R31Q|SGCD_ENST00000337851.4_Missense_Mutation_p.R31Q|SGCD_ENST00000517913.1_Missense_Mutation_p.R31Q	NM_001128209.1	NP_001121681.1	Q92629	SGCD_HUMAN	sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)	30					cytoskeleton organization|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|prostate(1)	24	Renal(175;0.00488)	Medulloblastoma(196;0.0378)|all_neural(177;0.106)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TATGGCTGGCGGAAACGATGC	0.483													A	155771587	G	A	155771587	3	1	376	1	0	0	0	0	1	0	0	0	14294	1116	39	1	98	1	SGCD	5	155771587	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	10519092	155771587	25143673	24	39680											
FAM153B	202134	broad.mit.edu	37	chr5	175526032	175526032	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctaaacgcaggcagacacAggcatccaaaccaacggtac	15	4	8	14	2	1	1	0	0	1	1	2	1	2	1	2	3	4	4	2	3	5	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr5:175526032A>G	ENST00000253490.4	+	10	603	c.546A>G	c.(544-546)acA>acG	p.T182T	FAM153B_ENST00000510151.1_Silent_p.T105T|FAM153B_ENST00000512862.1_Intron|FAM153B_ENST00000515817.1_Silent_p.T105T			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	182										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		AGGCAGACACAGGCATCCAAA	0.438													G	175526032	A	G	175526032	2	3	376	1	0	0	0	0	0	0	0	1	5506	175	7	3		3	FAM153B	5	175526032	Silent	SNP	A	TCGA-DU-6405-01A-11D-1705-08	19754445	175526032	5389228	25	39681											
DSP	1832	broad.mit.edu	37	chr6	7585482	7585482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacaggtggcatcatccacCcaaccacgggccagaagctg	11	4	11	15	1	1	1	1	0	0	1	2	1	2	1	4	3	2	3	4	3	2	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:7585482C>T	ENST00000379802.3	+	24	8328	c.7987C>T	c.(7987-7989)Cca>Tca	p.P2663S	DSP_ENST00000418664.2_Missense_Mutation_p.P2064S	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2663	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		CATCATCCACCCAACCACGGG	0.562													T	7585482	C	T	7585482	3	4	376	1	0	0	0	0	1	0	0	0	4820	623	22	2	8081	2	DSP	6	7585482	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		7585482	163529585	26	39682											
GPR110	266977	broad.mit.edu	37	chr6	46996743	46996743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcacccccaggaagccacCgtggccgtcagtgaaggtga	10	5	12	14	2	2	2	2	2	0	0	2	3	2	3	5	3	1	0	5	3	2	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:46996743C>T	ENST00000371253.2	-	2	270	c.55G>A	c.(55-57)Ggt>Agt	p.G19S	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000371243.2_Missense_Mutation_p.G19S	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	19					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						AGGAAGCCACCGTGGCCGTCA	0.512													T	46996743	C	T	46996743	3	4	376	1	0	0	0	0	1	0	0	0	6681	652	23	1	2783	1	GPR110	6	46996743	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	39411261	46996743	124118324	27	39683											
OPN5	221391	broad.mit.edu	37	chr6	47754301	47754301	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttacatgtcttctagaCgaaagaagaagctgagaccc	13	10	8	10	1	2	4	0	1	2	4	3	6	3	4	2	0	2	1	2	0	5	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:47754301C>T	ENST00000489301.2	+	2	266	c.181C>T	c.(181-183)Cga>Tga	p.R61*	OPN5_ENST00000371211.2_Nonsense_Mutation_p.R61*|OPN5_ENST00000393699.2_Nonsense_Mutation_p.R61*			Q6U736	OPN5_HUMAN	opsin 5	61					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						GTCTTCTAGACGAAAGAAGAA	0.378													T	47754301	C	T	47754301	4	4	376	1	0	0	0	0	0	1	0	0	10959	528	19	1	187	1	OPN5	6	47754301	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	757558	47754301	123360766	28	39684											
SLC35D3	340146	broad.mit.edu	37	chr6	137245387	137245387	+	Silent	SNP	G	G	T																															aagagcatcgccaccatcacGgtgggcatggtggccttcag																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245387G>T	ENST00000331858.4	+	2	969	c.804G>T	c.(802-804)acG>acT	p.T268T		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	268					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CCACCATCACGGTGGGCATGG	0.592													T	137245387	G	T	137245387	2	4	376	1	0	0	0	0	0	0	0	1	14677	1103	39	4		4	SLC35D3	6	137245387	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	89491086	137245387	33869680	29	39685	130	2									
SLC35D3	340146	broad.mit.edu	37	chr6	137245388	137245388	+	Missense_Mutation	SNP	G	G	T																															agagcatcgccaccatcacgGtgggcatggtggccttcagc																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr6:137245388G>T	ENST00000331858.4	+	2	970	c.805G>T	c.(805-807)Gtg>Ttg	p.V269L		NM_001008783.1	NP_001008783.1	Q5M8T2	S35D3_HUMAN	solute carrier family 35, member D3	269					carbohydrate transport	integral to membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	13	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000136)|OV - Ovarian serous cystadenocarcinoma(155;0.00365)		CACCATCACGGTGGGCATGGT	0.592													T	137245388	G	T	137245388	3	4	376	1	0	0	0	0	1	0	0	0	14677	1261	44	4	811	4	SLC35D3	6	137245388	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	1	137245388	33869679	30	39686	130	2									
PHTF2	57157	broad.mit.edu	37	chr7	77569563	77569564	+	Frame_Shift_Del	DEL	TC	TC	-																															taagttttgtggttcgcgtgTctcttgtgtggattttcttt																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:77569563_77569564delTC	ENST00000416283.2	+	12	1708_1709	c.1582_1583delTC	c.(1582-1584)tctfs	p.S528fs	PHTF2_ENST00000275575.7_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000422959.2_Frame_Shift_Del_p.S528fs|PHTF2_ENST00000424760.1_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000307305.8_Frame_Shift_Del_p.S524fs|PHTF2_ENST00000248550.7_Frame_Shift_Del_p.S562fs	NM_001127357.1|NM_020432.4	NP_001120829.1|NP_065165.3	Q8N3S3	PHTF2_HUMAN	putative homeodomain transcription factor 2	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum|nucleus	DNA binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	19						GGTTCGCGTGTCTCTTGTGTGG	0.342													-	77569564	TC	-	77569563	7	5	376	1	0	1	0	1	0	0	0	0	11940	1667	58	0	1682	0	PHTF2	7	77569563	Frame_Shift_Del	DEL	TC	TCGA-DU-6405-01A-11D-1705-08		77569563	81569100	31	39687											
ABCB1	5243	broad.mit.edu	37	chr7	87178715	87178715	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctgtgtccaaggctgaCgtggcctcatccagcaggag	7	10	12	12	1	2	1	1	1	1	0	4	2	4	2	3	3	1	2	3	3	1	1	rs56871767		TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr7:87178715C>T	ENST00000265724.3	-	15	2091	c.1674G>A	c.(1672-1674)acG>acA	p.T558T	ABCB1_ENST00000543898.1_Silent_p.T494T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	558	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)	CCAAGGCTGACGTGGCCTCAT	0.537													T	87178715	C	T	87178715	2	4	376	1	0	0	0	0	0	0	0	1	40	523	19	1		1	ABCB1	7	87178715	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	9609152	87178715	71959948	32	39688											
DOCK5	80005	broad.mit.edu	37	chr8	25216578	25216578	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccagacaagacatcatcGtaagttgcctttactggtcc	13	10	7	11	1	1	2	1	0	0	2	3	2	2	2	3	1	3	2	3	1	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:25216578G>A	ENST00000276440.7	+	28	2993		c.e28+1			NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5							cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGACATCATCGTAAGTTGCCT	0.458													A	25216578	G	A	25216578	5	1	376	1	0	0	0	0	0	0	1	0	4729	1159	40	1	3060	1	DOCK5	8	25216578	Splice_Site	SNP	G	TCGA-DU-6405-01A-11D-1705-08		25216578	121147444	33	39689											
RIMS2	9699	broad.mit.edu	37	chr8	104898359	104898359	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtaaaatgcgccagatttCgttgagcagttcagaggagg	11	9	14	7	3	1	3	1	1	0	2	2	4	1	4	1	3	2	4	1	3	2	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr8:104898359C>T	ENST00000507740.1	+	2	1192	c.956C>T	c.(955-957)tCg>tTg	p.S319L	RIMS2_ENST00000436393.2_Missense_Mutation_p.S289L|RIMS2_ENST00000406091.3_Missense_Mutation_p.S511L|RIMS2_ENST00000262231.10_Missense_Mutation_p.S319L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	542					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding	p.S289L(1)|p.S547L(1)|p.S319L(1)		NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CGCCAGATTTCGTTGAGCAGT	0.428										HNSCC(12;0.0054)			T	104898359	C	T	104898359	3	4	376	1	0	0	0	0	1	0	0	0	13459	893	31	1	1672	1	RIMS2	8	104898359	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	79681781	104898359	41465663	34	39690											
TYRP1	7306	broad.mit.edu	37	chr9	12708029	12708029	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccattggaaaatgcccctAttggacataatagacaatac	15	11	6	9	0	0	1	0	0	0	1	1	3	1	3	3	2	2	0	3	2	7	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:12708029A>G	ENST00000388918.5	+	7	1423	c.1294A>G	c.(1294-1296)Att>Gtt	p.I432V	TYRP1_ENST00000381137.2_Missense_Mutation_p.I141V|TYRP1_ENST00000381136.2_Missense_Mutation_p.I142V|RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000473504.1_3'UTR	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	432					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		AAATGCCCCTATTGGACATAA	0.348									Oculocutaneous Albinism				G	12708029	A	G	12708029	3	3	376	1	0	0	0	0	1	0	0	0	16918	449	16	3	1316	3	TYRP1	9	12708029	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		12708029	128505402	35	39691											
ZNF484	83744	broad.mit.edu	37	chr9	95610417	95610417	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacaagcagtcacttctgTatgagaattcaaatgagtga	14	12	8	7	0	4	3	3	3	1	1	4	4	4	3	0	0	1	2	0	0	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:95610417T>C	ENST00000395505.2	-	3	636	c.544A>G	c.(544-546)Aca>Gca	p.T182A	ANKRD19P_ENST00000473204.1_RNA|ZNF484_ENST00000332591.6_Missense_Mutation_p.T182A|ZNF484_ENST00000395506.3_Missense_Mutation_p.T220A|ZNF484_ENST00000375495.3_Missense_Mutation_p.T218A	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	218					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GTCACTTCTGTATGAGAATTC	0.353													C	95610417	T	C	95610417	3	2	376	1	0	0	0	0	1	0	0	0	18038	1638	57	3	1910	3	ZNF484	9	95610417	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08	82902388	95610417	45603014	36	39692											
LPPR1	54886	broad.mit.edu	37	chr9	104086328	104086328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcactctgcgtccatgaccGaagttacctgagacgactga	11	9	9	12	3	2	3	1	3	1	1	3	6	3	3	3	0	2	1	3	0	2	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:104086328G>A	ENST00000374874.3	+	8	1406	c.967G>A	c.(967-969)Gaa>Aaa	p.E323K	LPPR1_ENST00000395056.2_Missense_Mutation_p.E323K	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		323						integral to membrane	catalytic activity										GTCCATGACCGAAGTTACCTG	0.418													A	104086328	G	A	104086328	3	1	376	1	0	0	0	0	1	0	0	0	8994	1059	37	1	993	1	LPPR1	9	104086328	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	8475911	104086328	37127103	37	39693											
SLC46A2	57864	broad.mit.edu	37	chr9	115648895	115648895	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtatgacgaacaccttTcctgtggaagggacagaggt	11	9	13	8	1	0	2	0	1	0	1	1	5	1	4	2	3	2	2	2	3	3	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr9:115648895T>G	ENST00000374228.4	-	3	1446	c.1215A>C	c.(1213-1215)ggA>ggC	p.G405G		NM_033051.3	NP_149040.3	Q9BY10	TSCOT_HUMAN	solute carrier family 46, member 2	405						integral to membrane|plasma membrane	symporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(1)	18						CGAACACCTTTCCTGTGGAAG	0.542													G	115648895	T	G	115648895	5	3	376	1	0	0	0	0	0	0	1	0	14739	1797	62	5	220	5	SLC46A2	9	115648895	Splice_Site	SNP	T	TCGA-DU-6405-01A-11D-1705-08	11562567	115648895	25564536	38	39694											
HBE1	3046	broad.mit.edu	37	chr11	5291062	5291062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctccagcctcttccacaTtcatcttgctccacaggcta	8	11	4	18	0	3	0	1	0	2	0	6	0	6	0	5	1	2	2	5	1	1	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:5291062T>C	ENST00000380237.1	-	3	403	c.59A>G	c.(58-60)aAt>aGt	p.N20S	HBE1_ENST00000292896.2_Missense_Mutation_p.N20S|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron			P02100	HBE_HUMAN	hemoglobin, epsilon 1	20					blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|skin(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.34e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTCTTCCACATTCATCTTGCT	0.507													C	5291062	T	C	5291062	3	2	376	1	0	0	0	0	1	0	0	0	7035	1493	52	3	396	3	HBE1	11	5291062	Missense_Mutation	SNP	T	TCGA-DU-6405-01A-11D-1705-08		5291062	129715454	39	39695											
TSPAN18	90139	broad.mit.edu	37	chr11	44948236	44948236	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcccagggctgttacacGgtgatcctcaacaccttcga	8	9	8	16	2	1	1	1	1	0	0	4	2	3	1	4	2	2	2	4	2	2	2	rs149091051	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:44948236G>C	ENST00000340160.3	+	8	866	c.627G>C	c.(625-627)acG>acC	p.T209T	TSPAN18_ENST00000520358.2_Silent_p.T209T	NM_130783.4	NP_570139.3	Q96SJ8	TSN18_HUMAN	tetraspanin 18	209						integral to membrane				endometrium(1)|large_intestine(6)|lung(3)	10						GCTGTTACACGGTGATCCTCA	0.587											OREG0020922	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	44948236	G	C	44948236	2	2	376	1	0	0	0	0	0	0	0	1	16743	1103	39	4		4	TSPAN18	11	44948236	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	39657174	44948236	90058280	40	39696											
OR5D14	219436	broad.mit.edu	37	chr11	55563460	55563461	+	Frame_Shift_Ins	INS	-	-	G																															ccatgtcacagaggctctgtINSgccctgctggtggctgggtc																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:55563460_55563461insG	ENST00000335605.1	+	1	429_430	c.429_430insG	c.(430-432)gccfs	p.A144fs		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	144					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				AGAGGCTCTGTGCCCTGCTGGT	0.51													G	55563461	-	G	55563460	7	5	376	1	0	1	1	0	0	0	0	0	11231	1702	59	0	431	0	OR5D14	11	55563460	Frame_Shift_Ins	INS	-	TCGA-DU-6405-01A-11D-1705-08	10615224	55563460	79443056	41	39697											
P2RY2	5029	broad.mit.edu	37	chr11	72945405	72945405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcaagacctggaatgcGtccaccacatatatgttcca	11	9	7	14	2	1	1	1	0	0	1	3	2	3	2	5	1	1	1	5	1	4	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:72945405G>A	ENST00000311131.2	+	3	668	c.201G>A	c.(199-201)gcG>gcA	p.A67A	P2RY2_ENST00000393597.2_Silent_p.A67A|P2RY2_ENST00000393596.2_Silent_p.A67A	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	67					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CCTGGAATGCGTCCACCACAT	0.612													A	72945405	G	A	72945405	2	1	376	1	0	0	0	0	0	0	0	1	11428	1132	40	1		1	P2RY2	11	72945405	Silent	SNP	G	TCGA-DU-6405-01A-11D-1705-08	17381945	72945405	62061111	42	39698											
DYNC2H1	79659	broad.mit.edu	37	chr11	102984404	102984404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttagttctctttaccaagcaGtacggcaagtattcgcacca	11	12	7	11	2	1	0	0	0	1	0	3	0	1	0	2	1	3	6	2	1	6	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:102984404G>A	ENST00000375735.2	+	2	478	c.334G>A	c.(334-336)Gta>Ata	p.V112I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.V112I|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.V112I	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	112	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTACCAAGCAGTACGGCAAGT	0.328													A	102984404	G	A	102984404	3	1	376	1	0	0	0	0	1	0	0	0	4885	1029	36	2	340	2	DYNC2H1	11	102984404	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	30038999	102984404	32022112	43	39699											
PDZD3	79849	broad.mit.edu	37	chr11	119059739	119059739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaggctcagctgcccGggctgggctgcaagtgggag	6	6	18	11	1	1	0	1	0	0	0	2	2	2	2	2	5	3	5	2	5	1	0			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr11:119059739G>A	ENST00000531114.1	+	8	2060	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q	PDZD3_ENST00000392817.2_Missense_Mutation_p.R504Q|PDZD3_ENST00000322712.4_Missense_Mutation_p.R424Q|PDZD3_ENST00000355547.5_Missense_Mutation_p.R438Q|PDZD3_ENST00000525131.1_Missense_Mutation_p.R425Q			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	504	PDZ 4.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		TCAGCTGCCCGGGCTGGGCTG	0.607													A	119059739	G	A	119059739	3	1	376	1	0	0	0	0	1	0	0	0	11778	1116	39	1	1351	1	PDZD3	11	119059739	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	16075335	119059739	15946777	44	39700											
SP7	121340	broad.mit.edu	37	chr12	53722415	53722415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctggcaattagggcagtCgcaggaggagcgccctgccc	7	6	14	14	2	0	0	0	0	0	0	2	2	1	2	3	4	2	3	3	4	2	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:53722415C>T	ENST00000536324.2	-	3	1094	c.811G>A	c.(811-813)Gac>Aac	p.D271N	SP7_ENST00000537210.2_Missense_Mutation_p.D253N|SP7_ENST00000303846.3_Missense_Mutation_p.D271N	NM_001173467.1	NP_001166938.1	Q8TDD2	SP7_HUMAN	Sp7 transcription factor	271					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(2)|large_intestine(3)|lung(7)|skin(1)|urinary_tract(1)	14						TTAGGGCAGTCGCAGGAGGAG	0.662													T	53722415	C	T	53722415	3	4	376	1	0	0	0	0	1	0	0	0	15063	884	31	1	488	1	SP7	12	53722415	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		53722415	80129480	45	39701											
ATXN2	6311	broad.mit.edu	37	chr12	111908030	111908030	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccctgtattacaggactAtagacatgaggatgctgtgt	11	13	10	7	0	0	2	0	1	0	1	0	4	0	4	1	2	3	2	1	2	5	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr12:111908030A>G	ENST00000377617.3	-	20	3359	c.3198T>C	c.(3196-3198)taT>taC	p.Y1066Y	ATXN2_ENST00000535949.1_Silent_p.Y777Y|ATXN2_ENST00000608853.1_Silent_p.Y906Y|ATXN2_ENST00000389153.4_Silent_p.Y803Y|ATXN2_ENST00000542287.2_Silent_p.Y801Y|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1066	Pro-rich.				cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						TTACAGGACTATAGACATGAG	0.418													G	111908030	A	G	111908030	2	3	376	1	0	0	0	0	0	0	0	1	1216	456	16	3		3	ATXN2	12	111908030	Silent	SNP	A	TCGA-DU-6405-01A-11D-1705-08	58185615	111908030	21943865	46	39702											
SYT16	83851	broad.mit.edu	37	chr14	62547859	62547859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggctgcctgtgctgtccGcttccgcctgtacgctgccc	1	12	12	16	3	0	0	0	0	0	0	2	0	2	0	5	1	4	5	5	1	1	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62547859G>A	ENST00000430451.2	+	4	1498	c.1301G>A	c.(1300-1302)cGc>cAc	p.R434H	RP11-355I22.5_ENST00000553990.1_lincRNA	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	434	C2 1.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGTGCTGTCCGCTTCCGCCTG	0.572													A	62547859	G	A	62547859	3	1	376	1	0	0	0	0	1	0	0	0	15569	1087	38	1	1315	1	SYT16	14	62547859	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		62547859	44801681	47	39703											
SYT16	83851	broad.mit.edu	37	chr14	62567163	62567163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgggtcaagagatgtcccGttgcaagacgtccattcggc	8	10	13	10	3	1	2	1	0	0	2	4	3	3	2	2	2	1	2	2	2	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:62567163G>A	ENST00000430451.2	+	6	1873	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	559	C2 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		GAGATGTCCCGTTGCAAGACG	0.458													A	62567163	G	A	62567163	3	1	376	1	0	0	0	0	1	0	0	0	15569	1145	40	1	1698	1	SYT16	14	62567163	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	19304	62567163	44782377	48	39704											
AHNAK2	113146	broad.mit.edu	37	chr14	105420969	105420969	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtgacctctggggtccCggcccccgcttgctctttat	2	13	11	15	2	2	1	0	1	2	0	3	1	3	1	4	3	1	2	4	3	1	3			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr14:105420969C>T	ENST00000333244.5	-	7	938	c.819G>A	c.(817-819)ccG>ccA	p.P273P		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	273						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCTGGGGTCCCGGCCCCCGCT	0.592													T	105420969	C	T	105420969	2	4	376	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105420969	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	42853806	105420969	1928571	49	39705											
CREBBP	1387	broad.mit.edu	37	chr16	3781317	3781317	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagcgtggaccacttggagCggcgcaaggaggagaactcc	11	4	16	10	3	0	2	0	0	0	2	1	6	1	5	2	5	3	1	2	5	2	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr16:3781317C>G	ENST00000262367.5	-	30	5857	c.5048G>C	c.(5047-5049)cGc>cCc	p.R1683P	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1645P	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1683	Interaction with TRERF1.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1683H(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		CCACTTGGAGCGGCGCAAGGA	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						G	3781317	C	G	3781317	3	3	376	1	0	0	0	0	1	0	0	0	3892	768	27	4	2288	4	CREBBP	16	3781317	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		3781317	86573436	50	39706											
ZNF624	57547	broad.mit.edu	37	chr17	16527452	16527452	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctttgctgcctttcatctCcttgcaaattatcttcccca	6	16	5	14	0	3	0	1	0	2	0	5	0	4	0	4	1	3	3	4	1	2	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:16527452C>A	ENST00000311331.7	-	6	839	c.748G>T	c.(748-750)Gag>Tag	p.E250*		NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		CCTTTCATCTCCTTGCAAATT	0.373													A	16527452	C	A	16527452	4	1	376	1	0	0	0	0	0	1	0	0	18149	864	30	4	1853	4	ZNF624	17	16527452	Nonsense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08		16527452	64667758	51	39707											
KRT39	390792	broad.mit.edu	37	chr17	39122910	39122910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattaggtagatgggcttgcGacaaaagcgaggagtgggtt	11	9	16	5	2	0	1	0	0	0	1	0	4	0	2	0	4	2	3	0	4	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr17:39122910G>A	ENST00000355612.2	-	1	234	c.199C>T	c.(199-201)Cgc>Tgc	p.R67C	AC004231.2_ENST00000418393.1_RNA	NM_213656.3	NP_998821.3	Q6A163	K1C39_HUMAN	keratin 39	67	Head.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	17		Breast(137;0.00043)|Ovarian(249;0.15)				ATGGGCTTGCGACAAAAGCGA	0.517													A	39122910	G	A	39122910	3	1	376	1	0	0	0	0	1	0	0	0	8534	1058	37	1	1304	1	KRT39	17	39122910	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	22595458	39122910	42072300	52	39708											
TYK2	7297	broad.mit.edu	37	chr19	10465220	10465220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggatctttttcaaatagcGcttgtggaaaaccgtagggt	10	13	11	7	3	2	0	1	0	1	0	3	2	2	2	1	3	2	2	1	3	5	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:10465220G>A	ENST00000525621.1	-	19	3164	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	TYK2_ENST00000524462.1_Missense_Mutation_p.R710C|TYK2_ENST00000264818.6_Missense_Mutation_p.R895C	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	895					intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TTCAAATAGCGCTTGTGGAAA	0.577													A	10465220	G	A	10465220	3	1	376	1	0	0	0	0	1	0	0	0	16912	1087	38	1	908	1	TYK2	19	10465220	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		10465220	48663763	53	39709											
PSMC4	5704	broad.mit.edu	37	chr19	40480518	40480518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtggagctcccgctcaCgcatttcgagctctacaagc	7	8	11	15	4	2	0	1	0	1	0	4	2	3	1	2	2	4	4	2	2	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:40480518C>T	ENST00000157812.2	+	5	755	c.557C>T	c.(556-558)aCg>aTg	p.T186M	PSMC4_ENST00000455878.2_Missense_Mutation_p.T155M	NM_006503.3|NM_153001.2	NP_006494.1|NP_694546.1	P43686	PRS6B_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 4	186					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	mitochondrion|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTCCCGCTCACGCATTTCGAG	0.627													T	40480518	C	T	40480518	3	4	376	1	0	0	0	0	1	0	0	0	12774	536	19	1	575	1	PSMC4	19	40480518	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	30015298	40480518	18648465	54	39710											
FBXO46	23403	broad.mit.edu	37	chr19	46216180	46216180	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctggggtggtcggtcGtgggtagctctgcagggcca	4	8	20	9	3	1	0	0	0	1	0	3	0	1	0	1	7	2	4	1	7	1	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:46216180G>A	ENST00000317683.3	-	2	707	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_001080469.1	NP_001073938.1	Q6PJ61	FBX46_HUMAN	F-box protein 46	192							protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	15		Ovarian(192;0.179)|all_neural(266;0.224)		OV - Ovarian serous cystadenocarcinoma(262;0.00568)|GBM - Glioblastoma multiforme(486;0.0844)|Epithelial(262;0.201)		GTGGTCGGTCGTGGGTAGCTC	0.697													A	46216180	G	A	46216180	4	1	376	1	0	0	0	0	0	1	0	0	5804	1153	40	1	1241	1	FBXO46	19	46216180	Nonsense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	5735662	46216180	12912803	55	39711											
KLK6	5653	broad.mit.edu	37	chr19	51466622	51466622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgagcagtccctctcCaggggaaggggctggatgag	7	8	17	9	0	1	2	0	2	1	0	3	4	2	4	2	6	1	3	2	6	1	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr19:51466622C>T	ENST00000376851.3	-	4	820	c.381G>A	c.(379-381)ctG>ctA	p.L127L	KLK6_ENST00000376853.4_Intron|KLK6_ENST00000456750.2_Silent_p.L20L|KLK6_ENST00000310157.2_Silent_p.L127L|KLK6_ENST00000391808.1_Silent_p.L20L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Silent_p.L127L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	127	Peptidase S1.				amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		AGTCCCTCTCCAGGGGAAGGG	0.617													T	51466622	C	T	51466622	2	4	376	1	0	0	0	0	0	0	0	1	8466	581	21	2		2	KLK6	19	51466622	Silent	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5250442	51466622	7662361	56	39712											
SLC17A9	63910	broad.mit.edu	37	chr20	61594706	61594706	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctggagacggctcttccGgaagcctgctgtctggtgag	5	9	14	13	2	2	2	0	1	2	1	3	4	3	3	4	4	2	2	4	4	1	1			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr20:61594706G>A	ENST00000370349.3	+	7	896	c.692G>A	c.(691-693)cGg>cAg	p.R231Q	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Missense_Mutation_p.R237Q			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	237					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						CGGCTCTTCCGGAAGCCTGCT	0.657													A	61594706	G	A	61594706	3	1	376	1	0	0	0	0	1	0	0	0	14518	1116	39	1	732	1	SLC17A9	20	61594706	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08		61594706	1430814	57	39713											
TPTE	7179	broad.mit.edu	37	chr21	10920147	10920147	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatctgttcgcctttctccAaaataatacaggctttccta	10	16	4	11	1	2	0	0	0	2	0	5	0	3	0	3	1	1	2	3	1	6	7			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr21:10920147A>T	ENST00000298232.7	-	18	1420	c.1053T>A	c.(1051-1053)ttT>ttA	p.F351L	TPTE_ENST00000342420.5_Missense_Mutation_p.F331L|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.F369L	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	369	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCCTTTCTCCAAAATAATACA	0.383													T	10920147	A	T	10920147	3	4	376	1	0	0	0	0	1	0	0	0	16531	127	5	5	572	5	TPTE	21	10920147	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		10920147	37209748	58	39714											
ZNF280B	140883	broad.mit.edu	37	chr22	22842418	22842418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgaaaattttgagacaaaAgggacaaagcaaattctttg	17	12	8	4	0	1	2	0	2	1	1	1	4	1	3	0	1	1	1	0	1	6	5			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:22842418A>G	ENST00000360412.2	-	4	2081	c.1306T>C	c.(1306-1308)Ttt>Ctt	p.F436L	ZNF280B_ENST00000406426.1_Missense_Mutation_p.F436L	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGAGACAAAAGGGACAAAGC	0.428													G	22842418	A	G	22842418	3	3	376	1	0	0	0	0	1	0	0	0	17916	72	3	3	329	3	ZNF280B	22	22842418	Missense_Mutation	SNP	A	TCGA-DU-6405-01A-11D-1705-08		22842418	28462148	59	39715											
RIBC2	26150	broad.mit.edu	37	chr22	45821982	45821982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgcgtggtccctgaccGctggaagggcatgacccagg	7	5	14	15	3	0	2	0	2	0	0	1	3	1	3	5	4	0	2	5	4	1	0	rs149130910	byFrequency	TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chr22:45821982G>A	ENST00000342894.3	+	5	1025	c.611G>A	c.(610-612)cGc>cAc	p.R204H	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.R272H			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	204										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GTCCCTGACCGCTGGAAGGGC	0.642													A	45821982	G	A	45821982	3	1	376	1	0	0	0	0	1	0	0	0	13442	1087	38	1	832	1	RIBC2	22	45821982	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	22979564	45821982	5482584	60	39716											
SCML2	10389	broad.mit.edu	37	chrX	18259468	18259469	+	Frame_Shift_Del	DEL	TT	TT	-																															acttcatcatcacatcactcTtgagtaggaacagagccttc																										TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:18259468_18259469delTT	ENST00000251900.4	-	15	2164_2165	c.2005_2006delAA	c.(2005-2007)aagfs	p.K669fs	SCML2_ENST00000398048.3_3'UTR	NM_006089.2	NP_006080.1	Q9UQR0	SCML2_HUMAN	sex comb on midleg-like 2 (Drosophila)	669	SAM.				anatomical structure morphogenesis	PcG protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	36	Hepatocellular(33;0.183)					CACATCACTCTTGAGTAGGAAC	0.342													-	18259469	TT	-	18259468	7	5	376	1	0	1	0	1	0	0	0	0	14003	1609	56	0	100	0	SCML2	23	18259468	Frame_Shift_Del	DEL	TT	TCGA-DU-6405-01A-11D-1705-08		18259468	137011092	61	39717											
PLP1	5354	broad.mit.edu	37	chrX	103043374	103043374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcttacttaggtgttctcCcatggaatgctttccctggc	5	16	9	11	0	2	0	0	0	2	0	4	1	3	1	2	3	2	2	2	3	3	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:103043374C>T	ENST00000418604.1	+	6	911	c.631C>T	c.(631-633)Cca>Tca	p.P211S	PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Missense_Mutation_p.P211S|PLP1_ENST00000361621.2_Missense_Mutation_p.P176S	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	211			P -> L (in HLD1).		cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						AGGTGTTCTCCCATGGAATGC	0.478													T	103043374	C	T	103043374	3	4	376	1	0	0	0	0	1	0	0	0	12181	623	22	2	649	2	PLP1	23	103043374	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	84783906	103043374	52227186	62	39718											
GUCY2F	2986	broad.mit.edu	37	chrX	108719025	108719025	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggggagtgtccacacCtgctgcggaagggacatgac	9	8	15	9	1	0	1	0	1	0	0	1	4	1	4	2	4	2	2	2	4	2	2			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:108719025C>A	ENST00000218006.2	-	2	432	c.141G>T	c.(139-141)caG>caT	p.Q47H		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	47					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GTGTCCACACCTGCTGCGGAA	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	108719025	C	A	108719025	3	1	376	1	0	0	0	0	1	0	0	0	6953	680	24	4	3257	4	GUCY2F	23	108719025	Missense_Mutation	SNP	C	TCGA-DU-6405-01A-11D-1705-08	5675651	108719025	46551535	63	39719											
MAGEA6	4105	broad.mit.edu	37	chrX	151870194	151870194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatatggtaaagatcagtgGaggacctcgcatttcctacc	11	10	9	11	1	1	1	1	0	0	1	3	3	2	3	4	3	1	2	4	3	4	4			TCGA-DU-6405-01A-11D-1705-08	TCGA-DU-6405-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c810082c-26de-4168-84e7-512a6a9aea65	1057ab5b-17d9-439b-8c97-c7a81ffc89c5	g.chrX:151870194G>A	ENST00000329342.5	+	3	1109	c.884G>A	c.(883-885)gGa>gAa	p.G295E		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	295	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					AAGATCAGTGGAGGACCTCGC	0.567													A	151870194	G	A	151870194	3	1	376	1	0	0	0	0	1	0	0	0	9243	1174	41	2	886	2	MAGEA6	23	151870194	Missense_Mutation	SNP	G	TCGA-DU-6405-01A-11D-1705-08	43151169	151870194	3400366	64	39720											
SYCP1	6847	broad.mit.edu	37	chr1	115524063	115524063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttcacatcagttgatcatgGcatatccaaagataaaagag	16	11	7	7	0	3	3	3	1	0	2	4	3	4	3	1	1	0	2	1	1	4	4			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr1:115524063G>A	ENST00000369522.3	+	29	2729	c.2489G>A	c.(2488-2490)gGc>gAc	p.G830D	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Missense_Mutation_p.G830D	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	830					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGATCATGGCATATCCAAA	0.333													A	115524063	G	A	115524063	3	1	377	1	0	0	0	0	1	0	0	0	15528	1203	42	2	2599	2	SYCP1	1	115524063	Missense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08		115524063	133726558	1	39721											
RFWD2	64326	broad.mit.edu	37	chr1	176132079	176132079	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaatcaaggttatcttGgtcagttcccaaccaatctt	11	12	7	11	0	4	0	2	0	2	0	5	0	5	0	3	3	1	2	3	3	5	4			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr1:176132079G>A	ENST00000367669.3	-	5	1202	c.688C>T	c.(688-690)Caa>Taa	p.Q230*	RFWD2_ENST00000308769.8_Nonsense_Mutation_p.Q226*	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	230					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						AGGTTATCTTGGTCAGTTCCC	0.368													A	176132079	G	A	176132079	4	1	377	1	0	0	0	0	0	1	0	0	13348	1357	47	2	1571	2	RFWD2	1	176132079	Nonsense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08	60608016	176132079	73118542	2	39722											
DNMBP	23268	broad.mit.edu	37	chr10	101667847	101667847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccctcaaaatcaatgtttGgtacctgagaaaaggaaaca	16	9	8	8	0	2	1	2	1	0	1	3	3	3	2	2	2	2	2	2	2	7	2	rs114927649	byFrequency	TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr10:101667847G>A	ENST00000342239.3	-	6	2550	c.2459C>T	c.(2458-2460)cCa>cTa	p.P820L	DNMBP_ENST00000543621.1_Missense_Mutation_p.P66L|DNMBP_ENST00000324109.4_Missense_Mutation_p.P820L			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	820	DH.				intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		ATCAATGTTTGGTACCTGAGA	0.368													A	101667847	G	A	101667847	3	1	377	1	0	0	0	0	1	0	0	0	4713	1348	47	2	2322	2	DNMBP	10	101667847	Missense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08		101667847	33866900	3	39723											
MYF5	4617	broad.mit.edu	37	chr12	81112720	81112720	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatcacctcctcagagcaaCctgggttgcctctccaggat	8	9	10	14	0	3	1	2	0	1	1	5	3	4	3	5	3	3	2	5	3	1	1			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr12:81112720C>T	ENST00000228644.3	+	3	810	c.658C>T	c.(658-660)Cct>Tct	p.P220S		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	220					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						CTCAGAGCAACCTGGGTTGCC	0.488													T	81112720	C	T	81112720	3	4	377	1	0	0	0	0	1	0	0	0	10103	507	18	2	668	2	MYF5	12	81112720	Missense_Mutation	SNP	C	TCGA-DU-6406-01A-11D-1705-08		81112720	52739175	4	39724											
ACIN1	22985	broad.mit.edu	37	chr14	23532675	23532675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcatgctctgcaggtggggGcaaggccacctctactgaca	8	9	12	12	0	3	1	1	1	2	0	3	1	3	1	2	4	3	3	2	4	2	2			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr14:23532675G>A	ENST00000262710.1	-	13	3208	c.2881C>T	c.(2881-2883)Ccc>Tcc	p.P961S	ACIN1_ENST00000338631.6_Missense_Mutation_p.P234S|ACIN1_ENST00000557515.1_Missense_Mutation_p.P202S|ACIN1_ENST00000555053.1_Missense_Mutation_p.P948S|ACIN1_ENST00000357481.2_Missense_Mutation_p.P203S|ACIN1_ENST00000605057.1_Missense_Mutation_p.P903S|ACIN1_ENST00000457657.1_Missense_Mutation_p.P921S|ACIN1_ENST00000397341.3_Missense_Mutation_p.P203S	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	961					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GCAGGTGGGGGCAAGGCCACC	0.517													A	23532675	G	A	23532675	3	1	377	1	0	0	0	0	1	0	0	0	142	1203	42	2	1172	2	ACIN1	14	23532675	Missense_Mutation	SNP	G	TCGA-DU-6406-01A-11D-1705-08		23532675	83816865	5	39725											
SEC14L3	266629	broad.mit.edu	37	chr22	30858119	30858119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggtcagtcagggtgcccCcaaactgggcaggcagttcc	7	7	14	13	0	2	0	2	0	0	0	3	0	3	0	3	4	2	3	3	4	1	1			TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chr22:30858119C>A	ENST00000403066.1	-	10	831	c.548G>T	c.(547-549)gGg>gTg	p.G183V	SEC14L3_ENST00000539629.1_Missense_Mutation_p.G183V|SEC14L3_ENST00000415957.2_Missense_Mutation_p.G183V|SEC14L3_ENST00000215812.4_Missense_Mutation_p.G242V|SEC14L3_ENST00000402286.1_Missense_Mutation_p.G165V|SEC14L3_ENST00000540910.1_Missense_Mutation_p.G165V|SEC14L3_ENST00000401751.1_Missense_Mutation_p.G183V			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	242	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CAGGGTGCCCCCAAACTGGGC	0.517													A	30858119	C	A	30858119	3	1	377	1	0	0	0	0	1	0	0	0	14076	623	22	4	493	4	SEC14L3	22	30858119	Missense_Mutation	SNP	C	TCGA-DU-6406-01A-11D-1705-08		30858119	20446447	6	39726											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	8	6	13	14	1	0	0	0	0	0	0	0	0	0	0	1	0	11	11	1	0	0	1	rs71905623		TCGA-DU-6406-01A-11D-1705-08	TCGA-DU-6406-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17569950-b826-4112-bf60-5a82c88a345a	3029907d-e2f8-42c8-a7bd-56c8d3fa319e	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.Q58L	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				T	66765161	A	T	66765161	3	4	377	1	0	0	0	0	1	0	0	0	839	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-DU-6406-01A-11D-1705-08		66765161	88505399	7	39727											
HSPG2	3339	broad.mit.edu	37	chr1	22174482	22174482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgctgccctggatggtgacGatgagcgaggtctcccggga	6	7	16	12	4	1	2	0	2	1	0	2	6	1	4	3	4	2	1	3	4	0	0			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:22174482G>A	ENST00000374695.3	-	60	7921	c.7842C>T	c.(7840-7842)atC>atT	p.I2614I	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2614	Ig-like C2-type 11.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGATGGTGACGATGAGCGAGG	0.662													A	22174482	G	A	22174482	2	1	378	1	0	0	0	0	0	0	0	1	7488	1048	37	1		1	HSPG2	1	22174482	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		22174482	227076139	1	39728											
FPGT	8790	broad.mit.edu	37	chr1	74670899	74670899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccataacttttagtatctttCcagatataccagaatgctct	12	15	4	10	0	2	2	0	0	2	2	3	2	3	2	3	0	3	2	3	0	6	7			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr1:74670899C>A	ENST00000609362.1	+	4	1205	c.1168C>A	c.(1168-1170)Cca>Aca	p.P390T	FPGT-TNNI3K_ENST00000370895.1_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron|TNNI3K_ENST00000370891.2_Intron|FPGT-TNNI3K_ENST00000370893.1_Intron|FPGT-TNNI3K_ENST00000370899.3_Intron|FPGT_ENST00000370894.5_Missense_Mutation_p.F117L|FPGT_ENST00000534056.1_Intron|FPGT_ENST00000370898.3_Missense_Mutation_p.P403T|FPGT_ENST00000524915.1_Intron|FPGT-TNNI3K_ENST00000533006.1_Intron	NM_003838.4	NP_003829.3			fucose-1-phosphate guanylyltransferase											breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	39						TAGTATCTTTCCAGATATACC	0.388													A	74670899	C	A	74670899	3	1	378	1	0	0	0	0	1	0	0	0	6088	855	30	4	1182	4	FPGT	1	74670899	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	52496417	74670899	174579722	2	39729											
ARHGAP25	9938	broad.mit.edu	37	chr2	69002506	69002506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtactttgtgctgagggCgcagcagctctactactaca	9	10	12	10	1	1	1	0	1	1	0	1	2	1	1	0	2	7	5	0	2	4	5			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:69002506C>T	ENST00000295381.3	+	2	634	c.215C>T	c.(214-216)gCg>gTg	p.A72V	ARHGAP25_ENST00000497079.1_Missense_Mutation_p.A65V|ARHGAP25_ENST00000409220.1_Missense_Mutation_p.A65V|ARHGAP25_ENST00000409202.3_Missense_Mutation_p.A72V|ARHGAP25_ENST00000456116.2_3'UTR|ARHGAP25_ENST00000467265.1_Missense_Mutation_p.A72V|ARHGAP25_ENST00000409030.3_Missense_Mutation_p.A65V|ARHGAP25_ENST00000544262.1_Missense_Mutation_p.A46V	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	72	PH.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						GTGCTGAGGGCGCAGCAGCTC	0.592													T	69002506	C	T	69002506	3	4	378	1	0	0	0	0	1	0	0	0	877	768	27	1	261	1	ARHGAP25	2	69002506	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		69002506	174196867	3	39730											
CYP26B1	56603	broad.mit.edu	37	chr2	72359586	72359586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcaggtccggacacCgccaccgaacgggaggtaat	10	3	14	14	4	0	0	0	0	0	0	1	3	1	2	5	5	1	2	5	5	2	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:72359586C>T	ENST00000001146.2	-	6	1512	c.1309G>A	c.(1309-1311)Ggt>Agt	p.G437S	CYP26B1_ENST00000412253.1_Missense_Mutation_p.G246S|CYP26B1_ENST00000546307.1_Missense_Mutation_p.G362S	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	437					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GTCCGGACACCGCCACCGAAC	0.647													T	72359586	C	T	72359586	3	4	378	1	0	0	0	0	1	0	0	0	4189	652	23	1	233	1	CYP26B1	2	72359586	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	3357080	72359586	170839787	4	39731											
SCN1A	6323	broad.mit.edu	37	chr2	166872165	166872165	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttcttcaggttccactaCgggctgttcttctacaggtg	6	15	10	10	1	4	0	1	0	3	0	5	0	5	0	1	3	2	4	1	3	2	7	rs146374754		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:166872165C>T	ENST00000423058.2	-	17	3519	c.3502G>A	c.(3502-3504)Gta>Ata	p.V1168I	SCN1A_ENST00000409050.1_Missense_Mutation_p.V1140I|AC010127.3_ENST00000597623.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.V1157I|SCN1A_ENST00000303395.4_Missense_Mutation_p.V1168I	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1168						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GGTTCCACTACGGGCTGTTCT	0.413													T	166872165	C	T	166872165	3	4	378	1	0	0	0	0	1	0	0	0	14007	536	19	1	2567	1	SCN1A	2	166872165	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	94512579	166872165	76327208	5	39732											
PDK1	5163	broad.mit.edu	37	chr2	173423525	173423525	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atataatgaaagaaataagtCtccttccagataatcttctc	16	13	4	8	0	3	3	0	1	3	2	6	3	4	3	2	0	0	0	2	0	6	6			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:173423525C>G	ENST00000282077.3	+	2	468	c.286C>G	c.(286-288)Ctc>Gtc	p.L96V	PDK1_ENST00000543905.1_Missense_Mutation_p.L20V|PDK1_ENST00000544863.1_5'UTR|PDK1_ENST00000392571.2_Missense_Mutation_p.L96V|PDK1_ENST00000410055.1_Missense_Mutation_p.L96V			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1						glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			AGAAATAAGTCTCCTTCCAGA	0.393									Autosomal Dominant Polycystic Kidney Disease				G	173423525	C	G	173423525	3	3	378	1	0	0	0	0	1	0	0	0	11751	913	32	4	292	4	PDK1	2	173423525	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	6551360	173423525	69775848	6	39733											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	378	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	35689587	209113112	34086261	7	39734											
KIF1A	547	broad.mit.edu	37	chr2	241702180	241702180	+	Frame_Shift_Del	DEL	T	T	-																															cctcgttcacctccgggtagTacctggagtccatctgcttc																										TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr2:241702180delT	ENST00000498729.2	-	23	2318	c.2072delA	c.(2071-2073)tacfs	p.Y692fs	KIF1A_ENST00000320389.7_Frame_Shift_Del_p.Y683fs	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	683					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CTCCGGGTAGTACCTGGAGTC	0.617													-	241702180	T	-	241702180	7	5	378	1	0	1	0	1	0	0	0	0	8341	1638	57	0	3131	0	KIF1A	2	241702180	Frame_Shift_Del	DEL	T	TCGA-DU-6407-01A-13D-1705-08	32589068	241702180	1497193	8	39735											
LMCD1	29995	broad.mit.edu	37	chr3	8590439	8590439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtcaagcaatataagagCgaggccctcggcgtgggaga	11	8	14	8	3	1	2	1	0	0	2	2	4	1	2	1	3	2	1	1	3	4	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr3:8590439C>T	ENST00000157600.3	+	4	805	c.573C>T	c.(571-573)agC>agT	p.S191S	LMCD1_ENST00000397386.3_Silent_p.S79S|LMCD1_ENST00000454244.1_Silent_p.S118S|LMCD1_ENST00000535732.1_Silent_p.S191S|LMCD1-AS1_ENST00000439407.1_RNA	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	191	PET.				positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		AATATAAGAGCGAGGCCCTCG	0.587													T	8590439	C	T	8590439	2	4	378	1	0	0	0	0	0	0	0	1	8905	767	27	1		1	LMCD1	3	8590439	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08		8590439	189431991	9	39736											
FAM134B	54463	broad.mit.edu	37	chr5	16475174	16475174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgagaccagctgctgattgCgtctctttgcttggtctgtg	4	15	13	9	1	2	2	0	2	2	1	3	3	2	2	1	1	4	3	1	1	0	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:16475174C>T	ENST00000306320.9	-	9	1256	c.1170G>A	c.(1168-1170)acG>acA	p.T390T	FAM134B_ENST00000399793.2_Silent_p.T249T	NM_001034850.2	NP_001030022.1	Q9H6L5	F134B_HUMAN	family with sequence similarity 134, member B	390					sensory perception of pain	cis-Golgi network|endoplasmic reticulum|integral to membrane				breast(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(1)	16						CTGCTGATTGCGTCTCTTTGC	0.493													T	16475174	C	T	16475174	2	4	378	1	0	0	0	0	0	0	0	1	5491	755	27	1		1	FAM134B	5	16475174	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08		16475174	164440086	10	39737											
CLK4	57396	broad.mit.edu	37	chr5	178039445	178039445	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctcgggagctctgtagtgCcgggtagacaccaaagtact	10	8	12	11	2	1	1	0	0	1	1	2	2	1	2	3	2	3	4	3	2	4	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr5:178039445C>T	ENST00000316308.4	-	9	1191	c.1023G>A	c.(1021-1023)cgG>cgA	p.R341R		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	341	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTCTGTAGTGCCGGGTAGACA	0.408													T	178039445	C	T	178039445	2	4	378	1	0	0	0	0	0	0	0	1	3570	726	26	2		2	CLK4	5	178039445	Silent	SNP	C	TCGA-DU-6407-01A-13D-1705-08	161564271	178039445	2875815	11	39738											
IGF2R	3482	broad.mit.edu	37	chr6	160501242	160501242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcatcatagagagcagggCgaagctgtggtgtagcacaa	12	7	15	7	1	1	1	1	0	0	1	1	3	1	1	0	2	4	5	0	2	4	2			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr6:160501242C>T	ENST00000356956.1	+	39	5916	c.5768C>T	c.(5767-5769)gCg>gTg	p.A1923V		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	1923	Fibronectin type-II.				receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		GAGAGCAGGGCGAAGCTGTGG	0.557													T	160501242	C	T	160501242	3	4	378	1	0	0	0	0	1	0	0	0	7634	768	27	1	5922	1	IGF2R	6	160501242	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		160501242	10613825	12	39739											
PXDNL	137902	broad.mit.edu	37	chr8	52359639	52359639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgacattcatattggcCttgatcgtgctgtgctgcac	6	15	10	10	1	1	2	1	2	0	0	2	2	1	2	1	1	4	4	1	1	1	5			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr8:52359639C>T	ENST00000356297.4	-	12	1550	c.1450G>A	c.(1450-1452)Ggc>Agc	p.G484S	PXDNL_ENST00000543296.1_Missense_Mutation_p.G484S	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	484	Ig-like C2-type 3.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				TCATATTGGCCTTGATCGTGC	0.468													T	52359639	C	T	52359639	3	4	378	1	0	0	0	0	1	0	0	0	12936	681	24	2	2989	2	PXDNL	8	52359639	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		52359639	94004383	13	39740											
GATA3	2625	broad.mit.edu	37	chr10	8100437	8100437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgtctaccccccggcctcGtcctcctccttgtcgggggg	1	10	11	19	4	1	0	0	0	1	0	7	0	5	0	8	4	1	0	8	4	1	2			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:8100437G>A	ENST00000379328.3	+	3	979	c.411G>A	c.(409-411)tcG>tcA	p.S137S	GATA3_ENST00000346208.3_Silent_p.S137S|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	137	Poly-Ser.				aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						CCCCGGCCTCGTCCTCCTCCT	0.716			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						A	8100437	G	A	8100437	2	1	378	1	0	0	0	0	0	0	0	1	6309	1132	40	1		1	GATA3	10	8100437	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		8100437	127434310	14	39741											
CAMK1D	57118	broad.mit.edu	37	chr10	12803041	12803041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgccaagtcttggacgccGtgtactatctccacagaatg	9	10	9	13	3	2	1	0	0	2	1	4	2	3	2	4	1	1	1	4	1	4	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:12803041G>A	ENST00000378847.3	+	4	731	c.394G>A	c.(394-396)Gtg>Atg	p.V132M	CAMK1D_ENST00000378845.1_Missense_Mutation_p.V132M	NM_153498.2	NP_705718.1	Q8IU85	KCC1D_HUMAN	calcium/calmodulin-dependent protein kinase ID	132	Protein kinase.					calcium- and calmodulin-dependent protein kinase complex|cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|skin(1)|stomach(1)	16				GBM - Glioblastoma multiforme(1;3.16e-05)		CTTGGACGCCGTGTACTATCT	0.577													A	12803041	G	A	12803041	3	1	378	1	0	0	0	0	1	0	0	0	2623	1145	40	1	408	1	CAMK1D	10	12803041	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08	4702604	12803041	122731706	15	39742											
MYO3A	53904	broad.mit.edu	37	chr10	26359114	26359114	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatggctgacttaggataTcaatctatgataacatataa	16	12	7	6	0	2	2	1	2	1	0	2	3	2	3	0	2	1	2	0	2	8	6			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:26359114T>C	ENST00000265944.5	+	13	1411	c.1245T>C	c.(1243-1245)taT>taC	p.Y415Y	MYO3A_ENST00000543632.1_Silent_p.Y415Y	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	415	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ACTTAGGATATCAATCTATGA	0.318													C	26359114	T	C	26359114	2	2	378	1	0	0	0	0	0	0	0	1	10152	1442	50	3		3	MYO3A	10	26359114	Silent	SNP	T	TCGA-DU-6407-01A-13D-1705-08	13556073	26359114	109175633	16	39743											
HPS1	3257	broad.mit.edu	37	chr10	100185433	100185433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccagcatggagaagccAtccatcagctgggacagaac	12	7	10	12	0	2	2	1	0	1	2	4	4	3	3	3	2	4	2	3	2	2	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr10:100185433A>C	ENST00000325103.6	-	13	1433	c.1200T>G	c.(1198-1200)gaT>gaG	p.D400E	HPS1_ENST00000361490.4_Missense_Mutation_p.D400E|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	400					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		TGGAGAAGCCATCCATCAGCT	0.692									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	100185433	A	C	100185433	3	2	378	1	0	0	0	0	1	0	0	0	7394	214	8	5	934	5	HPS1	10	100185433	Missense_Mutation	SNP	A	TCGA-DU-6407-01A-13D-1705-08	73826319	100185433	35349314	17	39744											
CBX5	23468	broad.mit.edu	37	chr12	54635636	54635636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctatcacaatttgtggaCatttcacattagcttctttt	10	18	5	8	0	3	0	2	0	1	0	3	1	3	1	0	1	2	2	0	1	3	7			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr12:54635636C>T	ENST00000209875.4	-	5	615	c.479G>A	c.(478-480)tGt>tAt	p.C160Y	CBX5_ENST00000439541.2_Missense_Mutation_p.C160Y|CBX5_ENST00000550411.1_Missense_Mutation_p.C160Y	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	160	Chromo 2; shadow subtype.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						AATTTGTGGACATTTCACATT	0.398													T	54635636	C	T	54635636	3	4	378	1	0	0	0	0	1	0	0	0	2747	478	17	2	100	2	CBX5	12	54635636	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		54635636	79216259	18	39745											
MIPEP	4285	broad.mit.edu	37	chr13	24444199	24444199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accatcaattatgatatgatCcccagcagatgtaaagttac	15	11	6	9	0	1	3	1	2	0	1	2	3	2	3	3	0	2	3	3	0	6	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr13:24444199C>T	ENST00000382172.3	-	6	837	c.739G>A	c.(739-741)Gat>Aat	p.D247N		NM_005932.3	NP_005923	Q99797	MIPEP_HUMAN	mitochondrial intermediate peptidase	247					protein processing involved in protein targeting to mitochondrion|proteolysis	mitochondrial matrix	metal ion binding|metalloendopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(12)|prostate(2)|skin(1)	27		all_cancers(29;1.83e-22)|all_epithelial(30;8.75e-19)|all_lung(29;9.17e-18)|Lung SC(185;0.0225)|Breast(139;0.14)		all cancers(112;0.00389)|Epithelial(112;0.0266)|OV - Ovarian serous cystadenocarcinoma(117;0.0717)|Lung(94;0.207)|GBM - Glioblastoma multiforme(144;0.232)		ATGATATGATCCCCAGCAGAT	0.393													T	24444199	C	T	24444199	3	4	378	1	0	0	0	0	1	0	0	0	9667	855	30	2	1458	2	MIPEP	13	24444199	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08		24444199	90725679	19	39746											
TAT	6898	broad.mit.edu	37	chr16	71610262	71610262	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaacgttgacatgcacGtccagaattgaggggaggtt	11	8	12	10	2	0	3	0	2	0	1	1	4	1	4	3	3	2	3	3	3	2	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:71610262G>A	ENST00000355962.4	-	2	190	c.57C>T	c.(55-57)gaC>gaT	p.D19D	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	19					2-oxoglutarate metabolic process|glutamate metabolic process|L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	1-aminocyclopropane-1-carboxylate synthase activity|L-tyrosine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Glutamic Acid(DB00142)|L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Pyridoxal Phosphate(DB00114)	TGACATGCACGTCCAGAATTG	0.522													A	71610262	G	A	71610262	2	1	378	1	0	0	0	0	0	0	0	1	15687	1136	40	1		1	TAT	16	71610262	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08		71610262	18744491	20	39747											
ZDHHC7	55625	broad.mit.edu	37	chr16	85010046	85010046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagaggagtgaggggggcCccccaaagacggacttcatc	10	5	14	12	1	1	3	1	1	0	2	3	5	2	5	4	5	0	0	4	5	1	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr16:85010046C>T	ENST00000313732.4	-	8	1182	c.830G>A	c.(829-831)gGg>gAg	p.G277E	ZDHHC7_ENST00000564466.1_Missense_Mutation_p.G314E	NM_017740.2	NP_060210.2	Q9NXF8	ZDHC7_HUMAN	zinc finger, DHHC-type containing 7	277						integral to membrane	acyltransferase activity|protein binding|zinc ion binding			large_intestine(6)|lung(4)	10						TGAGGGGGGCCCCCCAAAGAC	0.572													T	85010046	C	T	85010046	3	4	378	1	0	0	0	0	1	0	0	0	17721	623	22	2	100	2	ZDHHC7	16	85010046	Missense_Mutation	SNP	C	TCGA-DU-6407-01A-13D-1705-08	13399784	85010046	5344707	21	39748											
TP53	7157	broad.mit.edu	37	chr17	7579362	7579362	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgcaagaagcccagacggaAaccgtagctgccctggtagg	12	5	13	11	2	0	2	0	0	0	2	0	3	0	3	3	3	5	4	3	3	5	2			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:7579362A>C	ENST00000420246.2	-	4	457	c.325T>G	c.(325-327)Ttc>Gtc	p.F109V	TP53_ENST00000445888.2_Missense_Mutation_p.F109V|TP53_ENST00000413465.2_Missense_Mutation_p.F109V|TP53_ENST00000359597.4_Missense_Mutation_p.F109V|TP53_ENST00000455263.2_Missense_Mutation_p.F109V|TP53_ENST00000269305.4_Missense_Mutation_p.F109V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.Q100fs*37(3)|p.G59fs*23(3)|p.F109fs*16(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.W91fs*13(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.F109V(1)|p.Y103_L111>L(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)		CCCAGACGGAAACCGTAGCTG	0.612		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)			C	7579362	A	C	7579362	3	2	378	1	0	0	0	0	1	0	0	0	16482	14	1	5	977	5	TP53	17	7579362	Missense_Mutation	SNP	A	TCGA-DU-6407-01A-13D-1705-08		7579362	73615848	22	39749											
ACACA	31	broad.mit.edu	37	chr17	35640173	35640173	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgctaataactcacctgcaTtggctttaaggtcttcaggt	10	14	8	9	0	3	0	2	0	1	0	3	0	3	0	1	3	3	3	1	3	3	6			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:35640173T>C	ENST00000353139.5	-	5	1086	c.605A>G	c.(604-606)aAt>aGt	p.N202S	ACACA_ENST00000335166.5_Missense_Mutation_p.N87S|ACACA_ENST00000394406.2_Missense_Mutation_p.N165S|ACACA_ENST00000360679.3_Missense_Mutation_p.N107S	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	165	Biotin carboxylation.				acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	CTCACCTGCATTGGCTTTAAG	0.408													C	35640173	T	C	35640173	3	2	378	1	0	0	0	0	1	0	0	0	106	1493	52	3	6754	3	ACACA	17	35640173	Missense_Mutation	SNP	T	TCGA-DU-6407-01A-13D-1705-08	28060811	35640173	45555037	23	39750											
HNF1B	6928	broad.mit.edu	37	chr17	36059196	36059196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggttcctgcttgtgtgcGtacactggagagacagagtg	7	10	17	7	1	0	2	0	0	0	2	1	4	1	3	1	3	3	3	1	3	1	3			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:36059196G>A	ENST00000225893.4	-	8	1900	c.1539C>T	c.(1537-1539)taC>taT	p.Y513Y	HNF1B_ENST00000427275.2_Intron|HNF1B_ENST00000560016.1_Intron|HNF1B_ENST00000561193.1_Silent_p.Y487Y	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	513					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			GCTTGTGTGCGTACACTGGAG	0.532													A	36059196	G	A	36059196	2	1	378	1	0	0	0	0	0	0	0	1	7307	1140	40	1		1	HNF1B	17	36059196	Silent	SNP	G	TCGA-DU-6407-01A-13D-1705-08	419023	36059196	45136014	24	39751											
HELZ	9931	broad.mit.edu	37	chr17	65105677	65105677	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcatactgtgcgtggggAgcaggaaggggaagatttat	11	10	16	4	1	0	1	0	0	0	1	0	4	0	4	0	5	4	2	0	5	4	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr17:65105677A>G	ENST00000358691.5	-	29	4210	c.4044T>C	c.(4042-4044)gcT>gcC	p.A1348A	HELZ_ENST00000580168.1_Silent_p.A1349A	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GTGCGTGGGGAGCAGGAAGGG	0.473													G	65105677	A	G	65105677	2	3	378	1	0	0	0	0	0	0	0	1	7104	291	11	3		3	HELZ	17	65105677	Silent	SNP	A	TCGA-DU-6407-01A-13D-1705-08	29046481	65105677	16089533	25	39752											
LGI4	163175	broad.mit.edu	37	chr19	35616158	35616158	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggcccttaaagcaagcaGcaaagaggaagcgtctgccg	12	5	14	10	2	1	1	0	0	1	1	1	2	1	2	2	3	5	3	2	3	5	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr19:35616158G>A	ENST00000310123.3	-	9	2072	c.1553C>T	c.(1552-1554)gCt>gTt	p.A518V	LGI4_ENST00000493050.1_5'UTR|LGI4_ENST00000392225.3_3'UTR	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	518						extracellular region				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			AAAGCAAGCAGCAAAGAGGAA	0.647													A	35616158	G	A	35616158	3	1	378	1	0	0	0	0	1	0	0	0	8814	971	34	2	64	2	LGI4	19	35616158	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08		35616158	23512825	26	39753											
USP25	29761	broad.mit.edu	37	chr21	17246819	17246819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatgatgaagaattgataTcacattatagaagagaatgt	18	11	9	3	0	1	6	1	3	0	3	1	8	1	6	0	0	0	0	0	0	7	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chr21:17246819T>C	ENST00000285681.2	+	23	3238	c.2869T>C	c.(2869-2871)Tca>Cca	p.S957P	USP25_ENST00000400183.2_Missense_Mutation_p.S995P|USP25_ENST00000351097.5_Missense_Mutation_p.S320P|USP25_ENST00000285679.6_Missense_Mutation_p.S925P	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	925					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.S925P(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		AGAATTGATATCACATTATAG	0.328													C	17246819	T	C	17246819	3	2	378	1	0	0	0	0	1	0	0	0	17158	1435	50	3	2859	3	USP25	21	17246819	Missense_Mutation	SNP	T	TCGA-DU-6407-01A-13D-1705-08		17246819	30883076	27	39754											
CXorf21	80231	broad.mit.edu	37	chrX	30578233	30578233	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctgcagcactgtgacTctctgacttctgctatgttg	5	17	9	10	0	3	2	0	2	3	0	4	2	3	2	0	0	3	4	0	0	1	4			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:30578233T>C	ENST00000378962.3	-	3	562	c.240A>G	c.(238-240)agA>agG	p.R80R		NM_025159.2	NP_079435.1	Q9HAI6	CX021_HUMAN	chromosome X open reading frame 21	80										kidney(1)|large_intestine(3)|lung(13)|ovary(1)|stomach(1)|urinary_tract(1)	20						GCACTGTGACTCTCTGACTTC	0.453													C	30578233	T	C	30578233	2	2	378	1	0	0	0	0	0	0	0	1	4134	1548	54	3		3	CXorf21	23	30578233	Silent	SNP	T	TCGA-DU-6407-01A-13D-1705-08		30578233	124692327	28	39755											
ATRX	546	broad.mit.edu	37	chrX	76939340	76939343	+	Frame_Shift_Del	DEL	CTAC	CTAC	-																															ctgatgcatgtgctcactatCtacctgttttcttgaaagtt																										TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:76939340_76939343delCTAC	ENST00000373344.5	-	9	1619_1622	c.1405_1408delGTAG	c.(1405-1410)gtagatfs	p.VD469fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.VD431fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	469					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)	TGCTCACTATCTACCTGTTTTCTT	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939343	CTAC	-	76939340	7	5	378	1	0	1	0	1	0	0	0	0	1213	913	32	0	6178	0	ATRX	23	76939340	Frame_Shift_Del	DEL	CTAC	TCGA-DU-6407-01A-13D-1705-08	46361107	76939340	78331220	29	39756											
HNRNPH2	3188	broad.mit.edu	37	chrX	100667035	100667035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtcaggggcctaccctGgtcctgctcagccgatgaag	8	7	14	12	1	2	1	2	1	0	0	3	3	3	1	4	4	3	1	4	4	3	1			TCGA-DU-6407-01A-13D-1705-08	TCGA-DU-6407-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f92a34fa-014e-4b41-a6d0-3b46b8c8a3ee	4a5655ba-0f40-4c74-9534-23eb5df3ad4d	g.chrX:100667035G>T	ENST00000316594.5	+	2	137	c.59G>T	c.(58-60)tGg>tTg	p.W20L	RPL36A-HNRNPH2_ENST00000409170.3_3'UTR	NM_001032393.2|NM_001199973.1|NM_001199974.1|NM_019597.4	NP_001027565.1|NP_001186902.1|NP_001186903.1|NP_062543.1	P55795	HNRH2_HUMAN	heterogeneous nuclear ribonucleoprotein H2 (H')	20	RRM 1.				nuclear mRNA splicing, via spliceosome	actin cytoskeleton|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			breast(3)|large_intestine(2)|lung(6)|skin(1)	12						GGCCTACCCTGGTCCTGCTCA	0.527													T	100667035	G	T	100667035	3	4	378	1	0	0	0	0	1	0	0	0	7322	1357	47	4	61	4	HNRNPH2	23	100667035	Missense_Mutation	SNP	G	TCGA-DU-6407-01A-13D-1705-08	23727695	100667035	54603525	30	39757											
SYCP1	6847	broad.mit.edu	37	chr1	115401333	115401333	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccattcaggaactgcaaGtatgacacaattttgcattg	14	11	8	8	0	1	1	1	1	0	0	1	2	1	2	1	1	4	3	1	1	5	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:115401333G>A	ENST00000369522.3	+	6	696		c.e6+1		SYCP1_ENST00000369518.1_Splice_Site	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1						cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GGAACTGCAAGTATGACACAA	0.323													A	115401333	G	A	115401333	5	1	379	1	0	0	0	0	0	0	1	0	15528	1043	36	2	475	2	SYCP1	1	115401333	Splice_Site	SNP	G	TCGA-DU-6408-01A-11D-1705-08		115401333	133849288	1	39758											
NES	10763	broad.mit.edu	37	chr1	156639260	156639263	+	Frame_Shift_Del	DEL	CTCC	CTCC	-																															ctgaaaggggctccctcggtCtccctcagagactagcggca																										TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr1:156639260_156639263delCTCC	ENST00000368223.3	-	4	4849_4852	c.4717_4720delGGAG	c.(4717-4722)ggagacfs	p.GD1573fs		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	1573	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTCCCTCGGTCTCCCTCAGAGACT	0.598													-	156639263	CTCC	-	156639260	7	5	379	1	0	1	0	1	0	0	0	0	10413	913	32	0	149	0	NES	1	156639260	Frame_Shift_Del	DEL	CTCC	TCGA-DU-6408-01A-11D-1705-08	41237927	156639260	92611361	2	39759											
RAB11FIP5	26056	broad.mit.edu	37	chr2	73315196	73315196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtttctgagtcgggTccttggcttctctcaagcca	5	13	11	12	1	3	1	1	1	2	0	6	1	4	1	3	3	1	2	3	3	1	3			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:73315196T>C	ENST00000258098.6	-	3	1790	c.1550A>G	c.(1549-1551)gAc>gGc	p.D517G	RAB11FIP5_ENST00000493523.2_5'UTR	NM_015470.2	NP_056285.1	Q9BXF6	RFIP5_HUMAN	RAB11 family interacting protein 5 (class I)	517					protein transport	mitochondrial outer membrane|recycling endosome membrane	gamma-tubulin binding			biliary_tract(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	23						CTGAGTCGGGTCCTTGGCTTC	0.602													C	73315196	T	C	73315196	3	2	379	1	0	0	0	0	1	0	0	0	12985	1667	58	3	423	3	RAB11FIP5	2	73315196	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08		73315196	169884177	3	39760											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	379	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08	135797916	209113112	34086261	4	39761											
ZBTB20	26137	broad.mit.edu	37	chr3	114057857	114057857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagatactacttatcCgtcagacacatgcatcctca	15	9	6	11	1	2	3	2	0	0	3	4	4	4	3	2	0	3	1	2	0	4	3	rs150263896		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:114057857C>T	ENST00000462705.1	-	12	2823	c.2002G>A	c.(2002-2004)Gga>Aga	p.G668R	ZBTB20_ENST00000481632.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000464560.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000471418.1_Missense_Mutation_p.G668R|ZBTB20_ENST00000474710.1_Missense_Mutation_p.G741R|ZBTB20_ENST00000393785.2_Missense_Mutation_p.G668R|ZBTB20_ENST00000357258.3_Missense_Mutation_p.G668R	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	741					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACTACTTATCCGTCAGACACA	0.413													T	114057857	C	T	114057857	3	4	379	1	0	0	0	0	1	0	0	0	17630	661	23	1	8	1	ZBTB20	3	114057857	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		114057857	83964573	5	39762											
MED12L	116931	broad.mit.edu	37	chr3	150877703	150877703	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttccttgctgctgagcGatagccccaacctccttgct	5	13	8	15	1	1	1	0	1	1	0	3	2	3	1	5	0	6	3	5	0	2	4			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:150877703G>T	ENST00000474524.1	+	7	960	c.922G>T	c.(922-924)Gat>Tat	p.D308Y	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000309237.4_Missense_Mutation_p.D308Y|MED12L_ENST00000422248.2_Missense_Mutation_p.D308Y	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	308					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCTGCTGAGCGATAGCCCCAA	0.577													T	150877703	G	T	150877703	3	4	379	1	0	0	0	0	1	0	0	0	9504	1058	37	4	948	4	MED12L	3	150877703	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08	36819846	150877703	47144727	6	39763											
MUC4	4585	broad.mit.edu	37	chr3	195516420	195516420	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggaacaatttctgagggCgagtgcccactggctgtgaa	10	9	14	8	1	1	3	0	3	1	0	1	5	1	4	1	3	2	1	1	3	3	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr3:195516420C>T	ENST00000463781.3	-	2	2490	c.2031G>A	c.(2029-2031)tcG>tcA	p.S677S	MUC4_ENST00000475231.1_Silent_p.S677S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	682					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TTTCTGAGGGCGAGTGCCCAC	0.582													T	195516420	C	T	195516420	2	4	379	1	0	0	0	0	0	0	0	1	10054	755	27	1		1	MUC4	3	195516420	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08	44638717	195516420	2506010	7	39764											
DNAH5	1767	broad.mit.edu	37	chr5	13735963	13735963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataagcccagaaactggCgaagcgaagtctgatacatc	16	6	9	10	2	1	2	0	1	1	1	2	4	1	2	1	1	4	0	1	1	6	2			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:13735963C>T	ENST00000265104.4	-	67	11638	c.11534G>A	c.(11533-11535)cGc>cAc	p.R3845H		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3845					microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CAGAAACTGGCGAAGCGAAGT	0.468									Kartagener syndrome				T	13735963	C	T	13735963	3	4	379	1	0	0	0	0	1	0	0	0	4643	768	27	1	2392	1	DNAH5	5	13735963	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		13735963	167179297	8	39765											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746018	140746018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgcgtcttcctggccttCgtcatcgtgctgctggtgct	1	15	11	14	3	2	0	1	0	1	0	6	0	4	0	3	2	4	3	3	2	0	2			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr5:140746018C>T	ENST00000518069.1	+	1	2121	c.2121C>T	c.(2119-2121)ttC>ttT	p.F707F	PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCTGGCCTTCGTCATCGTGC	0.602													T	140746018	C	T	140746018	2	4	379	1	0	0	0	0	0	0	0	1	11633	883	31	1		1	PCDHGA5	5	140746018	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08	127010055	140746018	40169242	9	39766											
COL12A1	1303	broad.mit.edu	37	chr6	75887610	75887610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaattttgaaactatctgTagtctcatctgtcaccttta	11	17	5	8	0	4	1	2	1	3	0	5	1	4	1	1	0	1	2	1	0	5	7			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:75887610T>C	ENST00000322507.8	-	12	2515	c.2206A>G	c.(2206-2208)Aca>Gca	p.T736A	COL12A1_ENST00000483888.2_Missense_Mutation_p.T736A|COL12A1_ENST00000416123.2_Missense_Mutation_p.T736A|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	736	Fibronectin type-III 4.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AAACTATCTGTAGTCTCATCT	0.343													C	75887610	T	C	75887610	3	2	379	1	0	0	0	0	1	0	0	0	3700	1638	57	3	7205	3	COL12A1	6	75887610	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08		75887610	95227457	10	39767											
SIM1	6492	broad.mit.edu	37	chr6	100868697	100868697	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaagtcctggattttgacTttgagctggagagccgggat	8	11	16	6	1	0	3	0	2	0	1	1	7	1	6	2	4	2	1	2	4	1	3			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr6:100868697T>C	ENST00000369208.3	-	10	1918	c.1136A>G	c.(1135-1137)aAg>aGg	p.K379R	SIM1_ENST00000262901.4_Missense_Mutation_p.K379R			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	379	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGATTTTGACTTTGAGCTGGA	0.488													C	100868697	T	C	100868697	3	2	379	1	0	0	0	0	1	0	0	0	14417	1609	56	3	1176	3	SIM1	6	100868697	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08	24981087	100868697	70246370	11	39768											
SLC26A7	115111	broad.mit.edu	37	chr8	92406210	92406210	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatggaaacctagactcagaGaaaccaattttttttgaatc	15	13	6	7	0	1	3	1	1	0	2	2	5	1	4	2	1	2	0	2	1	6	6			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr8:92406210G>C	ENST00000276609.3	+	18	2117	c.1878G>C	c.(1876-1878)gaG>gaC	p.E626D	SLC26A7_ENST00000520249.1_3'UTR|SLC26A7_ENST00000523719.1_Missense_Mutation_p.E626D|SLC26A7_ENST00000309536.2_Missense_Mutation_p.E626D	NM_001282356.1|NM_052832.2	NP_001269285.1|NP_439897.1	Q8TE54	S26A7_HUMAN	solute carrier family 26 (anion exchanger), member 7	626	STAS.					basolateral plasma membrane|integral to membrane|recycling endosome membrane	anion:anion antiporter activity|bicarbonate transmembrane transporter activity|chloride channel activity|oxalate transmembrane transporter activity|sulfate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|large_intestine(10)|lung(26)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	50			BRCA - Breast invasive adenocarcinoma(11;0.00802)			TAGACTCAGAGAAACCAATTT	0.343													C	92406210	G	C	92406210	3	2	379	1	0	0	0	0	1	0	0	0	14616	933	33	4	1944	4	SLC26A7	8	92406210	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		92406210	53957812	12	39769											
CCIN	881	broad.mit.edu	37	chr9	36170748	36170748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccccatggatggcaccGccgtgatcactaaaggagac	11	6	11	13	2	1	2	1	1	0	1	2	4	2	3	4	3	0	2	4	3	2	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr9:36170748G>A	ENST00000335119.2	+	1	1360	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	417					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGATGGCACCGCCGTGATCAC	0.537													A	36170748	G	A	36170748	3	1	379	1	0	0	0	0	1	0	0	0	2906	1087	38	1	1251	1	CCIN	9	36170748	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		36170748	105042683	13	39770											
ECHS1	1892	broad.mit.edu	37	chr10	135183409	135183409	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcttggcagcaacactcacgGcatagccattgacagcagcg	11	7	10	13	2	2	1	1	1	1	0	2	1	2	1	1	2	5	4	1	2	2	3			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr10:135183409G>A	ENST00000368547.3	-	3	768	c.413C>T	c.(412-414)gCc>gTc	p.A138V		NM_004092.3	NP_004083.3	P30084	ECHM_HUMAN	enoyl CoA hydratase, short chain, 1, mitochondrial	138				A -> P (in Ref. 1; BAA03001).	fatty acid beta-oxidation	mitochondrial matrix	enoyl-CoA hydratase activity|protein binding			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)|skin(1)	10		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		all cancers(32;1.62e-06)|OV - Ovarian serous cystadenocarcinoma(35;5.75e-06)|Epithelial(32;7.58e-06)		AACACTCACGGCATAGCCATT	0.493													A	135183409	G	A	135183409	5	1	379	1	0	0	0	0	0	0	1	0	4935	1217	42	2	483	2	ECHS1	10	135183409	Splice_Site	SNP	G	TCGA-DU-6408-01A-11D-1705-08		135183409	351338	14	39771											
IFITM5	387733	broad.mit.edu	37	chr11	298552	298552	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagaaggcggcagagtcCttggccagccgggccaggtg	8	5	17	11	2	0	3	0	1	0	2	1	3	1	3	4	5	1	1	4	5	2	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr11:298552C>T	ENST00000382614.2	-	2	383	c.348G>A	c.(346-348)aaG>aaA	p.K116K		NM_001025295.2	NP_001020466.1	A6NNB3	IFM5_HUMAN	interferon induced transmembrane protein 5	116					multicellular organismal development|regulation of bone mineralization|response to biotic stimulus	integral to membrane|plasma membrane				lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGGCAGAGTCCTTGGCCAGCC	0.642													T	298552	C	T	298552	2	4	379	1	0	0	0	0	0	0	0	1	7587	680	24	2		2	IFITM5	11	298552	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08		298552	134707964	15	39772											
TAS2R9	50835	broad.mit.edu	37	chr12	10961751	10961751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctctatggaacaaaaggCtttcttcttctaaggaaaca	13	12	8	8	0	4	0	0	0	4	0	5	2	4	2	0	4	2	1	0	4	6	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr12:10961751C>G	ENST00000240691.2	-	1	1016	c.924G>C	c.(922-924)aaG>aaC	p.K308N		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	308					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GAACAAAAGGCTTTCTTCTTC	0.368													G	10961751	C	G	10961751	3	3	379	1	0	0	0	0	1	0	0	0	15685	796	28	4	18	4	TAS2R9	12	10961751	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08		10961751	122890144	16	39773											
KL	9365	broad.mit.edu	37	chr13	33638070	33638070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggtttggcctctatcGttatgctgcagatcagtttg	6	15	11	9	2	2	1	1	0	1	1	4	2	3	1	2	2	2	5	2	2	2	4			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr13:33638070G>A	ENST00000380099.3	+	5	2794	c.2786G>A	c.(2785-2787)cGt>cAt	p.R929H	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	929	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		GGCCTCTATCGTTATGCTGCA	0.448													A	33638070	G	A	33638070	3	1	379	1	0	0	0	0	1	0	0	0	8389	1145	40	1	2804	1	KL	13	33638070	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		33638070	81531808	17	39774											
AKAP6	9472	broad.mit.edu	37	chr14	33165315	33165315	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcagcagcatctttacaAggttagagctacccttcctg	10	10	9	12	0	1	1	0	0	1	1	2	1	2	1	2	1	6	6	2	1	4	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr14:33165315A>C	ENST00000280979.4	+	9	3169	c.2999A>C	c.(2998-3000)aAg>aCg	p.K1000T	AKAP6_ENST00000557272.1_Splice_Site_p.K1000T|AKAP6_ENST00000557354.1_Splice_Site_p.K1000T	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1000					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		CATCTTTACAAGGTTAGAGCT	0.478													C	33165315	A	C	33165315	5	2	379	1	0	0	0	0	0	0	1	0	455	86	3	5	3029	5	AKAP6	14	33165315	Splice_Site	SNP	A	TCGA-DU-6408-01A-11D-1705-08		33165315	74184225	18	39775											
CLEC18B	497190	broad.mit.edu	37	chr16	74443750	74443750	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggttaacagctctgcctacCccatggcagcactcagccac	9	7	9	16	0	2	0	1	0	1	0	2	0	2	0	4	2	6	4	4	2	2	2	rs149961754	byFrequency	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:74443750C>T	ENST00000339953.5	-	11	1359	c.1238G>A	c.(1237-1239)gGg>gAg	p.G413E		NM_001011880.2	NP_001011880.2	Q6UXF7	CL18B_HUMAN	C-type lectin domain family 18, member B	413	C-type lectin.					extracellular region	sugar binding			endometrium(3)|kidney(9)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27						CTCTGCCTACCCCATGGCAGC	0.637													T	74443750	C	T	74443750	5	4	379	1	0	0	0	0	0	0	1	0	3534	637	22	2	141	2	CLEC18B	16	74443750	Splice_Site	SNP	C	TCGA-DU-6408-01A-11D-1705-08		74443750	15911003	19	39776											
PLCG2	5336	broad.mit.edu	37	chr16	81819709	81819709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccgcaagtccacccccGagcggagaaccgtccaggtg	8	5	12	16	4	0	1	0	0	0	1	3	3	3	1	6	2	2	2	6	2	2	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr16:81819709G>A	ENST00000359376.3	+	2	329	c.115G>A	c.(115-117)Gag>Aag	p.E39K		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	39	PH.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GTCCACCCCCGAGCGGAGAAC	0.592													A	81819709	G	A	81819709	3	1	379	1	0	0	0	0	1	0	0	0	12113	1059	37	1	117	1	PLCG2	16	81819709	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08	7375959	81819709	8535044	20	39777											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	379	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		7577121	73618089	21	39778											
TP53	7157	broad.mit.edu	37	chr17	7577518	7577518	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagtcttccagtgtgaTgatggtgaggatgggcctcc	6	11	15	9	0	1	3	0	3	1	0	3	5	3	5	4	4	0	0	4	4	0	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:7577518T>A	ENST00000420246.2	-	7	895	c.763A>T	c.(763-765)Atc>Ttc	p.I255F	TP53_ENST00000445888.2_Missense_Mutation_p.I255F|TP53_ENST00000359597.4_Missense_Mutation_p.I255F|TP53_ENST00000455263.2_Missense_Mutation_p.I255F|TP53_ENST00000413465.2_Missense_Mutation_p.I255F|TP53_ENST00000269305.4_Missense_Mutation_p.I255F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	255	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		I -> F (in sporadic cancers; somatic mutation).|I -> M (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.I255F(20)|p.0?(8)|p.I255del(7)|p.I255fs*9(3)|p.I255V(3)|p.T253_I255del(2)|p.I255fs*8(1)|p.?(1)|p.I254fs*7(1)|p.I254_T256del(1)|p.R249_T256delRPILTIIT(1)|p.I255fs*90(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)		TCCAGTGTGATGATGGTGAGG	0.582		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)			A	7577518	T	A	7577518	3	1	379	1	0	0	0	0	1	0	0	0	16482	1464	51	5	527	5	TP53	17	7577518	Missense_Mutation	SNP	T	TCGA-DU-6408-01A-11D-1705-08	397	7577518	73617692	22	39779											
SMCR8	140775	broad.mit.edu	37	chr17	18219589	18219589	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttatatctctgcagaccaGcataaaatcatgcagcagtt	13	11	7	10	0	2	1	1	0	1	1	3	1	2	1	1	0	4	6	1	0	4	4			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:18219589G>A	ENST00000406438.3	+	1	966	c.486G>A	c.(484-486)caG>caA	p.Q162Q		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	162										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						CTGCAGACCAGCATAAAATCA	0.527													A	18219589	G	A	18219589	2	1	379	1	0	0	0	0	0	0	0	1	14886	962	34	2		2	SMCR8	17	18219589	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	10642071	18219589	62975621	23	39780											
MAPT	4137	broad.mit.edu	37	chr17	44068858	44068858	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacgaagatcgccacaccGcggggagcagcccctccagg	12	2	12	15	4	0	1	0	0	0	1	2	3	1	2	5	3	3	1	5	3	3	0	rs147203016	by1000genomes	TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:44068858G>A	ENST00000344290.5	+	9	1735	c.1413G>A	c.(1411-1413)ccG>ccA	p.P471P	MAPT_ENST00000570299.1_3'UTR|MAPT_ENST00000431008.3_Silent_p.P154P|MAPT_ENST00000262410.5_Silent_p.P471P|MAPT_ENST00000576518.1_Silent_p.P85P|MAPT_ENST00000420682.2_Silent_p.P125P|MAPT_ENST00000340799.5_Silent_p.P125P|MAPT_ENST00000415613.2_Silent_p.P471P|MAPT_ENST00000574436.1_Silent_p.P154P|MAPT_ENST00000446361.3_Silent_p.P96P|MAPT_ENST00000535772.1_Silent_p.P154P|MAPT_ENST00000347967.5_Silent_p.P60P|MAPT_ENST00000334239.8_Silent_p.P96P|MAPT_ENST00000351559.5_Silent_p.P154P|MAPT_ENST00000571987.1_Silent_p.P471P	NM_001123066.3	NP_001116538.2	P10636	TAU_HUMAN	microtubule-associated protein tau	471					cellular component disassembly involved in apoptosis|microtubule cytoskeleton organization|negative regulation of microtubule depolymerization|positive regulation of axon extension|positive regulation of microtubule polymerization|regulation of autophagy	axon|cytosol|growth cone|microtubule|microtubule associated complex|nuclear periphery|plasma membrane|tubulin complex	apolipoprotein E binding|enzyme binding|identical protein binding|lipoprotein particle binding|microtubule binding|protein binding|SH3 domain binding|structural constituent of cytoskeleton			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)				TCGCCACACCGCGGGGAGCAG	0.557													A	44068858	G	A	44068858	2	1	379	1	0	0	0	0	0	0	0	1	9372	1074	38	1		1	MAPT	17	44068858	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	25849269	44068858	37126352	24	39781											
IGF2BP1	10642	broad.mit.edu	37	chr17	47122357	47122357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttttgctttttagattgCaccacccgaaacacctgact	9	14	6	12	1	0	2	0	1	0	1	0	3	0	2	3	0	3	3	3	0	2	6			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr17:47122357C>T	ENST00000290341.3	+	12	1659	c.1325C>T	c.(1324-1326)gCa>gTa	p.A442V	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.A303V	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	442	KH 3.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTTAGATTGCACCACCCGAA	0.478													T	47122357	C	T	47122357	3	4	379	1	0	0	0	0	1	0	0	0	7631	710	25	2	1371	2	IGF2BP1	17	47122357	Missense_Mutation	SNP	C	TCGA-DU-6408-01A-11D-1705-08	3053499	47122357	34072853	25	39782											
OLFM2	93145	broad.mit.edu	37	chr19	9965171	9965171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcatgacctcgagggtgtgCgggtccagccggctgaccac	6	6	15	14	4	0	2	0	2	0	0	2	3	1	2	4	3	2	2	4	3	0	0			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:9965171C>T	ENST00000264833.4	-	6	1241	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	OLFM2_ENST00000590841.1_Silent_p.P274P	NM_058164.2	NP_477512.1	O95897	NOE2_HUMAN	olfactomedin 2	352	Olfactomedin-like.					extracellular region		p.P352P(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(8)|lung(9)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	31						CGAGGGTGTGCGGGTCCAGCC	0.642													T	9965171	C	T	9965171	2	4	379	1	0	0	0	0	0	0	0	1	10929	755	27	1		1	OLFM2	19	9965171	Silent	SNP	C	TCGA-DU-6408-01A-11D-1705-08		9965171	49163812	26	39783											
PKN1	5585	broad.mit.edu	37	chr19	14568915	14568915	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaagccatgtggccccaAtgcctgggaccagagcttca	9	8	12	12	0	1	1	1	0	0	1	1	3	1	3	5	3	3	1	5	3	2	2			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:14568915A>T	ENST00000242783.6	+	8	1403	c.1238A>T	c.(1237-1239)aAt>aTt	p.N413I	PKN1_ENST00000342216.4_Missense_Mutation_p.N419I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	413	C2.				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						TGTGGCCCCAATGCCTGGGAC	0.592													T	14568915	A	T	14568915	3	4	379	1	0	0	0	0	1	0	0	0	12056	101	4	5	1311	5	PKN1	19	14568915	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	4603744	14568915	44560068	27	39784											
ZNF765	91661	broad.mit.edu	37	chr19	53911501	53911501	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattgtagctcactcttaagGaaacatcagttaatccattt	14	14	5	8	0	3	0	2	0	1	0	4	1	4	1	1	1	2	3	1	1	5	5			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr19:53911501G>A	ENST00000396408.3	+	4	810	c.693G>A	c.(691-693)agG>agA	p.R231R	ZNF765_ENST00000594030.1_Intron	NM_001040185.1	NP_001035275.1	Q7L2R6	ZN765_HUMAN	zinc finger protein 765	231					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(3)	4				GBM - Glioblastoma multiforme(134;0.00379)		CACTCTTAAGGAAACATCAGT	0.368													A	53911501	G	A	53911501	2	1	379	1	0	0	0	0	0	0	0	1	18239	1165	41	2		2	ZNF765	19	53911501	Silent	SNP	G	TCGA-DU-6408-01A-11D-1705-08	39342586	53911501	5217482	28	39785											
BAGE2	85319	broad.mit.edu	37	chr21	11098763	11098763	+	RNA	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccagccccactcctacCgctcaggccgccctcctaac	6	7	6	22	2	1	0	1	0	0	0	4	0	4	0	8	1	4	2	8	1	2	2	rs73891538		TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr21:11098763C>A	ENST00000470054.1	-	0	162									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccactcctaccgctcaggccg	0.622													A	11098763	C	A	11098763	1	1	379	0	1	0	0	0	0	0	0	0	1297	667	23	4		4	BAGE2	21	11098763	RNA	SNP	C	TCGA-DU-6408-01A-11D-1705-08		11098763	37031132	29	39786											
CHAF1B	8208	broad.mit.edu	37	chr21	37787682	37787682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctacagaagaaattcAgtcaggtaagtaatattgtt	14	13	7	7	0	3	2	2	0	1	2	3	2	3	2	1	1	1	3	1	1	6	8			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr21:37787682A>G	ENST00000314103.5	+	13	1734	c.1583A>G	c.(1582-1584)cAg>cGg	p.Q528R		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GAAGAAATTCAGTCAGGTAAG	0.343													G	37787682	A	G	37787682	3	3	379	1	0	0	0	0	1	0	0	0	3342	188	7	3	1629	3	CHAF1B	21	37787682	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	26688919	37787682	10342213	30	39787											
RAC2	5880	broad.mit.edu	37	chr22	37627415	37627415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgctggggcagtggtgccGcacttctgggaaccactggg	5	9	17	10	1	1	0	0	0	1	0	1	1	1	1	2	5	3	3	2	5	1	1			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chr22:37627415G>A	ENST00000249071.6	-	5	425	c.304C>T	c.(304-306)Cgg>Tgg	p.R102W	RAC2_ENST00000406508.1_Missense_Mutation_p.R58W|RAC2_ENST00000405484.1_Missense_Mutation_p.R95W	NM_002872.3	NP_002863.1	P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	102					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						CAGTGGTGCCGCACTTCTGGG	0.627													A	37627415	G	A	37627415	3	1	379	1	0	0	0	0	1	0	0	0	13063	1086	38	1	282	1	RAC2	22	37627415	Missense_Mutation	SNP	G	TCGA-DU-6408-01A-11D-1705-08		37627415	13677151	31	39788											
ATRX	546	broad.mit.edu	37	chrX	76874371	76874371	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcacactgaccattttgaAttggatttataaatctattc	12	16	5	8	0	1	2	0	2	1	0	2	3	1	3	1	1	1	1	1	1	5	8			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874371A>C	ENST00000373344.5	-	21	5565	c.5351T>G	c.(5350-5352)aTt>aGt	p.I1784S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I1746S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1784					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)	ACCATTTTGAATTGGATTTAT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76874371	A	C	76874371	3	2	379	1	0	0	0	0	1	0	0	0	1213	101	4	5	2187	5	ATRX	23	76874371	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08		76874371	78396189	32	39789			1	45		2	2	63	A		6.609001e-05
ATRX	546	broad.mit.edu	37	chrX	76874433	76874433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtaaattttccttgataaaAttaaccatacaatgatctaa	18	14	3	6	0	1	2	0	2	1	0	2	2	2	2	2	0	2	1	2	0	8	8			TCGA-DU-6408-01A-11D-1705-08	TCGA-DU-6408-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67078a7b-15c0-43ab-bad5-76fc5380b9c0	b9159ab9-3ee6-4378-904c-a643509294e6	g.chrX:76874433A>C	ENST00000373344.5	-	21	5503	c.5289T>G	c.(5287-5289)aaT>aaG	p.N1763K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.N1725K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1763	Helicase ATP-binding.				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)	CCTTGATAAAATTAACCATAC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76874433	A	C	76874433	3	2	379	1	0	0	0	0	1	0	0	0	1213	98	4	5	2249	5	ATRX	23	76874433	Missense_Mutation	SNP	A	TCGA-DU-6408-01A-11D-1705-08	62	76874433	78396127	33	39790			1	45		2	2	63	A		6.609001e-05
UBE4B	10277	broad.mit.edu	37	chr1	10182079	10182079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgtaggaatctcccatatgGcttcattcaggaactggtga	10	12	11	8	0	3	1	2	1	1	0	4	3	3	3	1	4	1	2	1	4	4	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:10182079G>A	ENST00000377157.3	+	9	1825	c.764G>A	c.(763-765)gGc>gAc	p.G255D	UBE4B_ENST00000253251.8_Missense_Mutation_p.G371D|UBE4B_ENST00000475795.1_3'UTR|UBE4B_ENST00000343090.6_Missense_Mutation_p.G500D	NM_006048.4	NP_006039.2	O95155	UBE4B_HUMAN	ubiquitination factor E4B	500					apoptosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to UV	cytoplasm|ubiquitin ligase complex	enzyme binding			NS(3)|breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(14)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	48		all_lung(284;1.13e-05)|Lung NSC(185;1.74e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0268)|Colorectal(212;1.42e-07)|COAD - Colon adenocarcinoma(227;2.77e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000435)|Kidney(185;0.000482)|KIRC - Kidney renal clear cell carcinoma(229;0.00164)|STAD - Stomach adenocarcinoma(132;0.0117)|READ - Rectum adenocarcinoma(331;0.046)		CTCCCATATGGCTTCATTCAG	0.493													A	10182079	G	A	10182079	3	1	380	1	0	0	0	0	1	0	0	0	16985	1203	42	2	1537	2	UBE4B	1	10182079	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		10182079	239068542	1	39791											
EXTL1	2134	broad.mit.edu	37	chr1	26361731	26361731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaccagatagcggcagcgTtcggccacatgcccttgctg	8	8	11	14	3	1	1	1	0	0	1	2	1	1	1	3	2	5	3	3	2	2	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:26361731T>C	ENST00000374280.3	+	11	2791	c.1924T>C	c.(1924-1926)Ttc>Ctc	p.F642L		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	642					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGCGGCAGCGTTCGGCCACAT	0.642													C	26361731	T	C	26361731	3	2	380	1	0	0	0	0	1	0	0	0	5367	1725	60	3	1966	3	EXTL1	1	26361731	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	16179652	26361731	222888890	2	39792											
ARID1A	8289	broad.mit.edu	37	chr1	27101342	27101342	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcagagggccaaccacGaaggctcgtggccttcccat	10	6	11	14	2	1	2	1	0	0	2	3	3	2	2	4	3	1	1	4	3	2	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:27101342G>T	ENST00000324856.7	+	18	4995	c.4624G>T	c.(4624-4626)Gaa>Taa	p.E1542*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.E1159*|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1542					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.E1542*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCCAACCACGAAGGCTCGTG	0.642			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27101342	G	T	27101342	4	4	380	1	0	0	0	0	0	1	0	0	916	1059	37	4	4694	4	ARID1A	1	27101342	Nonsense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	739611	27101342	222149279	3	39793											
CDC20	991	broad.mit.edu	37	chr1	43824985	43824985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctggcagcgcaaagccaaGgaagccgcaggcccggcccc	9	1	14	17	4	0	0	0	0	0	0	0	1	0	1	5	4	3	4	5	4	3	0			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:43824985G>A	ENST00000372462.1	+	1	302	c.99G>A	c.(97-99)aaG>aaA	p.K33K	CDC20_ENST00000310955.6_Silent_p.K33K			Q12834	CDC20_HUMAN	cell division cycle 20	33					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAAAGCCAAGGAAGCCGCAG	0.677													A	43824985	G	A	43824985	2	1	380	1	0	0	0	0	0	0	0	1	3089	991	35	2		2	CDC20	1	43824985	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	16723643	43824985	205425636	4	39794											
INTS3	65123	broad.mit.edu	37	chr1	153745465	153745465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaagccacccaagagcCggcgaaaagcagctctgtcc	12	3	9	17	2	1	1	0	0	1	1	2	2	2	1	6	1	4	2	6	1	4	0			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:153745465C>T	ENST00000456435.1	+	28	3725	c.2539C>T	c.(2539-2541)Cgg>Tgg	p.R847W	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000318967.2_Missense_Mutation_p.R987W|INTS3_ENST00000435409.2_Missense_Mutation_p.R987W|INTS3_ENST00000512605.1_Missense_Mutation_p.R847W			Q68E01	INT3_HUMAN	integrator complex subunit 3	988					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			ACCCAAGAGCCGGCGAAAAGC	0.557													T	153745465	C	T	153745465	3	4	380	1	0	0	0	0	1	0	0	0	7837	643	23	1	3073	1	INTS3	1	153745465	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	109920480	153745465	95505156	5	39795											
KCNN3	3782	broad.mit.edu	37	chr1	154842348	154842348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgctgctgctgctgctgCtgctgctcatccccagagga	4	12	12	13	0	1	1	1	0	0	1	2	2	2	2	2	1	8	9	2	1	0	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:154842348C>T	ENST00000271915.4	-	1	408	c.93G>A	c.(91-93)caG>caA	p.Q31Q		NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3		Poly-Gln.					integral to membrane	calmodulin binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)			gctgctgctgctgctgctCAT	0.672													T	154842348	C	T	154842348	2	4	380	1	0	0	0	0	0	0	0	1	8138	796	28	2		2	KCNN3	1	154842348	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	1096883	154842348	94408273	6	39796											
FMN2	56776	broad.mit.edu	37	chr1	240371098	240371098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcccccacttcccggagcgGgcataccccctccgccccca	5	5	7	24	3	0	0	0	0	0	0	3	1	3	1	8	2	2	1	8	2	1	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr1:240371098G>A	ENST00000319653.9	+	5	3216	c.2986G>A	c.(2986-2988)Ggc>Agc	p.G996S		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	996	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			TCCCGGAGCGGGCATACCCCC	0.706													A	240371098	G	A	240371098	3	1	380	1	0	0	0	0	1	0	0	0	5999	1232	43	2	3004	2	FMN2	1	240371098	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	85528750	240371098	8879523	7	39797											
EDAR	10913	broad.mit.edu	37	chr2	109539871	109539871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcaggagtagcagaccatgCcatagatgttcctcggtctg	9	9	13	10	1	1	2	0	0	1	2	3	3	2	3	3	3	2	4	3	3	2	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr2:109539871C>T	ENST00000409271.1	-	6	838	c.395G>A	c.(394-396)gGc>gAc	p.G132D	EDAR_ENST00000376651.1_Missense_Mutation_p.G132D|EDAR_ENST00000258443.2_Missense_Mutation_p.G132D			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	132					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GCAGACCATGCCATAGATGTT	0.542													T	109539871	C	T	109539871	3	4	380	1	0	0	0	0	1	0	0	0	4944	739	26	2	983	2	EDAR	2	109539871	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		109539871	133659502	8	39798											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	380	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	99573241	209113112	34086261	9	39799											
TATDN2	9797	broad.mit.edu	37	chr3	10291133	10291135	+	In_Frame_Del	DEL	CTT	CTT	-																															agaaataactcctcctcctcCttctccccacatttcttggg																								rs148201381		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:10291133_10291135delCTT	ENST00000287652.4	+	2	1300_1302	c.249_251delCTT	c.(247-252)tccttc>tcc	p.F84del	RP11-438J1.1_ENST00000450534.1_In_Frame_Del_p.F27del|TATDN2_ENST00000448281.2_In_Frame_Del_p.F84del	NM_014760.3	NP_055575.3	Q93075	TATD2_HUMAN	TatD DNase domain containing 2	84						nucleus	endodeoxyribonuclease activity, producing 5'-phosphomonoesters|metal ion binding	p.F84fs*19(1)		autonomic_ganglia(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(9)|pancreas(2)|prostate(1)|stomach(2)	28						CCTCCTCCTCCTTCTCCCCACAT	0.631													-	10291135	CTT	-	10291133	7	5	380	1	0	1	0	1	0	0	0	0	15689	668	24	0	251	0	TATDN2	3	10291133	In_Frame_Del	DEL	CTT	TCGA-DU-6410-01A-11D-1893-08		10291133	187731297	10	39800											
EPHA3	2042	broad.mit.edu	37	chr3	89498454	89498454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagccagcgatgtatggaGttatgggattgttctctggg	7	13	15	6	1	2	0	1	0	1	0	3	3	2	2	1	3	2	3	1	3	2	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:89498454G>T	ENST00000336596.2	+	14	2651	c.2426G>T	c.(2425-2427)aGt>aTt	p.S809I	EPHA3_ENST00000494014.1_Missense_Mutation_p.S809I	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	809	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GATGTATGGAGTTATGGGATT	0.448										TSP Lung(6;0.00050)			T	89498454	G	T	89498454	3	4	380	1	0	0	0	0	1	0	0	0	5209	1029	36	4	2506	4	EPHA3	3	89498454	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	79207321	89498454	108523976	11	39801											
HHLA2	11148	broad.mit.edu	37	chr3	108074123	108074123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtctttggattcttttTctattaacagcccactgaat	9	16	7	9	0	3	1	0	1	3	0	3	2	3	2	1	2	2	0	1	2	3	6			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:108074123T>C	ENST00000357759.5	+	5	994	c.580T>C	c.(580-582)Tct>Cct	p.S194P	HHLA2_ENST00000467761.1_Missense_Mutation_p.S194P|HHLA2_ENST00000467562.1_Missense_Mutation_p.S130P|HHLA2_ENST00000491820.1_Missense_Mutation_p.S194P|HHLA2_ENST00000489514.2_Missense_Mutation_p.S194P	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	194	Ig-like C1-type.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						GGATTCTTTTTCTATTAACAG	0.388													C	108074123	T	C	108074123	3	2	380	1	0	0	0	0	1	0	0	0	7150	1783	62	3	590	3	HHLA2	3	108074123	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	18575669	108074123	89948307	12	39802											
MUC4	4585	broad.mit.edu	37	chr3	195515511	195515511	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgccgaggaagcgtaGgtgacaggaagaggggtggc	10	5	21	5	2	0	2	0	1	0	1	0	6	0	5	1	7	2	1	1	7	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr3:195515511G>A	ENST00000463781.3	-	2	3399	c.2940C>T	c.(2938-2940)acC>acT	p.T980T	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Silent_p.T980T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	985	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGAAGCGTAGGTGACAGGAA	0.572													A	195515511	G	A	195515511	2	1	380	1	0	0	0	0	0	0	0	1	10054	987	35	2		2	MUC4	3	195515511	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	87441388	195515511	2506919	13	39803											
RBPJ	3516	broad.mit.edu	37	chr4	26422326	26422326	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccttccaaaaagaagCagtcattgaaaaatgctgac	18	7	6	10	0	1	3	1	2	0	1	2	3	2	3	3	0	3	2	3	0	6	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:26422326C>T	ENST00000342320.4	+	5	648	c.472C>T	c.(472-474)Cag>Tag	p.Q158*	RBPJ_ENST00000504907.1_Nonsense_Mutation_p.Q158*|RBPJ_ENST00000345843.3_Nonsense_Mutation_p.Q157*|RBPJ_ENST00000342295.1_Nonsense_Mutation_p.Q172*|RBPJ_ENST00000507561.1_Nonsense_Mutation_p.Q137*|RBPJ_ENST00000355476.3_Nonsense_Mutation_p.Q158*|RBPJ_ENST00000361572.6_Nonsense_Mutation_p.Q172*|RBPJ_ENST00000348160.4_Nonsense_Mutation_p.Q159*			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	172					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAAAAAGAAGCAGTCATTGAA	0.363													T	26422326	C	T	26422326	4	4	380	1	0	0	0	0	0	1	0	0	13249	711	25	2	595	2	RBPJ	4	26422326	Nonsense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		26422326	164731950	14	39804											
ALB	213	broad.mit.edu	37	chr4	74280861	74280861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgctgtgccgctgcagatCctcatgaatgctatgccaaa	10	10	10	11	1	1	2	1	1	0	1	2	2	2	2	3	0	5	4	3	0	3	1	rs141343001		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr4:74280861C>T	ENST00000295897.4	+	9	1257	c.1168C>T	c.(1168-1170)Cct>Tct	p.P390S	ALB_ENST00000503124.1_Missense_Mutation_p.P240S|ALB_ENST00000509063.1_Missense_Mutation_p.P390S|ALB_ENST00000401494.3_Missense_Mutation_p.P275S|ALB_ENST00000415165.2_Missense_Mutation_p.P198S|ALB_ENST00000505649.1_3'UTR	NM_000477.5	NP_000468.1	P02768	ALBU_HUMAN	albumin	390	Albumin 2.				bile acid and bile salt transport|bile acid metabolic process|cellular response to starvation|hemolysis by symbiont of host erythrocytes|lipoprotein metabolic process|maintenance of mitochondrion location|negative regulation of apoptosis|platelet activation|platelet degranulation|sodium-independent organic anion transport|transmembrane transport	extracellular space|platelet alpha granule lumen|protein complex	antioxidant activity|chaperone binding|copper ion binding|DNA binding|drug binding|fatty acid binding|pyridoxal phosphate binding|toxin binding	p.P390S(1)		NS(1)|endometrium(4)|kidney(1)|large_intestine(6)|liver(9)|lung(16)|ovary(3)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	48	Breast(15;0.00102)		Epithelial(6;4.8e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000263)|all cancers(17;0.000472)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		Acenocoumarol(DB01418)|Acitretin(DB00459)|Alfentanil(DB00802)|Aluminium(DB01370)|Auranofin(DB00995)|Bismuth(DB01402)|Captopril(DB01197)|Carboplatin(DB00958)|Cefalotin(DB00456)|Cefazolin(DB01327)|Cefonicid(DB01328)|Cefoperazone(DB01329)|Chlorpheniramine(DB01114)|Chlorpromazine(DB00477)|Ciprofloxacin(DB00537)|Clonazepam(DB01068)|Cloxacillin(DB01147)|Cytarabine(DB00987)|Dantrolene(DB01219)|Diclofenac(DB00586)|Diflunisal(DB00861)|Digitoxin(DB01396)|Estrone(DB00655)|Ethacrynic acid(DB00903)|Etodolac(DB00749)|Flurbiprofen(DB00712)|Gadobenate Dimeglumine(DB00743)|Gatifloxacin(DB01044)|Gliclazide(DB01120)|Halothane(DB01159)|Human Serum Albumin(DB00062)|Hyaluronidase(DB00070)|Ibuprofen(DB01050)|Insulin-detemir(DB01307)|Insulin-glargine(DB01308)|Iodipamide(DB04711)|Ketoprofen(DB01009)|Levamisole(DB00848)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Mefenamic acid(DB00784)|Mephenytoin(DB00532)|Methotrexate(DB00563)|Nortriptyline(DB00540)|Oxazepam(DB00842)|Paclitaxel(DB01229)|Phenprocoumon(DB00946)|Probenecid(DB01032)|Propofol(DB00818)|Pyridoxine(DB00165)|Salicyclic acid(DB00936)|Saquinavir(DB01232)|Serum albumin iodonated(DB00064)|Serum albumin(DB00096)|Sodium lauryl sulfate(DB00815)|Sucralfate(DB00364)|Sulfamethizole(DB00576)|Sulindac(DB00605)|Suprofen(DB00870)|Testosterone(DB00624)|Xanthophyll(DB00137)	CGCTGCAGATCCTCATGAATG	0.398													T	74280861	C	T	74280861	3	4	380	1	0	0	0	0	1	0	0	0	486	855	30	2	1202	2	ALB	4	74280861	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	47858535	74280861	116873415	15	39805											
TARS	6897	broad.mit.edu	37	chr5	33445453	33445453	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgctggtgaagagaagcaAaaggaaggaggcaaaaagaa	19	3	16	3	0	0	3	0	1	0	2	0	6	0	5	0	5	2	3	0	5	8	0			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:33445453A>G	ENST00000265112.3	+	2	392	c.81A>G	c.(79-81)caA>caG	p.Q27Q	TARS_ENST00000541634.1_5'UTR|TARS_ENST00000502553.1_Silent_p.Q27Q|TARS_ENST00000414361.2_5'UTR|TARS_ENST00000455217.2_Silent_p.Q27Q	NM_152295.4	NP_689508.3	P26639	SYTC_HUMAN	threonyl-tRNA synthetase	27					threonyl-tRNA aminoacylation	cytosol	ATP binding|protein homodimerization activity|threonine-tRNA ligase activity			NS(1)|biliary_tract(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)	29					L-Threonine(DB00156)	AAGAGAAGCAAAAGGAAGGAG	0.423													G	33445453	A	G	33445453	2	3	380	1	0	0	0	0	0	0	0	1	15656	11	1	3		3	TARS	5	33445453	Silent	SNP	A	TCGA-DU-6410-01A-11D-1893-08		33445453	147469807	16	39806											
MATR3	9782	broad.mit.edu	37	chr5	138643853	138643853	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcataaatttgacagtgagtAtgagagaatgggacgtggtc	13	11	13	4	1	1	4	1	3	0	1	2	6	1	5	0	2	0	1	0	2	4	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr5:138643853A>G	ENST00000394800.2	+	6	1298	c.749A>G	c.(748-750)tAt>tGt	p.Y250C	MATR3_ENST00000502929.1_Missense_Mutation_p.Y250C|MATR3_ENST00000361059.2_Missense_Mutation_p.Y250C|MATR3_ENST00000510056.1_Missense_Mutation_p.Y250C|MATR3_ENST00000509990.1_Missense_Mutation_p.Y250C|MATR3_ENST00000503811.1_Intron|MATR3_ENST00000502499.1_Intron|MATR3_ENST00000504203.1_Intron|MATR3_ENST00000394805.3_Missense_Mutation_p.Y250C			P43243	MATR3_HUMAN	matrin 3	250						nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GACAGTGAGTATGAGAGAATG	0.418													G	138643853	A	G	138643853	3	3	380	1	0	0	0	0	1	0	0	0	9412	449	16	3	751	3	MATR3	5	138643853	Missense_Mutation	SNP	A	TCGA-DU-6410-01A-11D-1893-08	105198400	138643853	42271407	17	39807											
EHMT2	10919	broad.mit.edu	37	chr6	31856769	31856769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggttgggggagagggtcCcctcgctgggcagctccagg	4	7	19	11	2	0	1	0	0	0	1	3	2	2	1	3	6	1	4	3	6	0	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:31856769C>T	ENST00000395728.3	-	9	1363	c.1364G>A	c.(1363-1365)gGg>gAg	p.G455E	EHMT2_ENST00000480912.1_5'UTR|EHMT2_ENST00000375528.4_Intron|EHMT2_ENST00000375530.4_Intron|EHMT2_ENST00000375537.4_Missense_Mutation_p.G398E			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	398					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						GGAGAGGGTCCCCTCGCTGGG	0.632													T	31856769	C	T	31856769	3	4	380	1	0	0	0	0	1	0	0	0	5023	623	22	2	2515	2	EHMT2	6	31856769	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		31856769	139258298	18	39808											
MTO1	25821	broad.mit.edu	37	chr6	74191908	74191908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataccgcatgtttaccagccGagtagagttccgtttgtcac	9	12	9	11	3	1	1	1	0	0	1	2	2	2	1	4	0	3	5	4	0	3	6			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:74191908G>A	ENST00000498286.1	+	8	1683	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MTO1_ENST00000415954.2_Missense_Mutation_p.R509Q|MTO1_ENST00000370305.1_Missense_Mutation_p.R420Q|MTO1_ENST00000370300.4_Missense_Mutation_p.R494Q			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	494					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						TTTACCAGCCGAGTAGAGTTC	0.527													A	74191908	G	A	74191908	3	1	380	1	0	0	0	0	1	0	0	0	10029	1058	37	1	1639	1	MTO1	6	74191908	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	42335139	74191908	96923159	19	39809											
KIAA1244	57221	broad.mit.edu	37	chr6	138657616	138657616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggccgtgtctatgacatcaTtgtgtagccgactcctgttc	6	13	11	11	2	2	1	1	1	1	0	4	2	3	1	3	1	1	2	3	1	2	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr6:138657616T>C	ENST00000251691.4	+	34	6693	c.6527T>C	c.(6526-6528)aTt>aCt	p.I2176T		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	2176					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		TATGACATCATTGTGTAGCCG	0.552													C	138657616	T	C	138657616	3	2	380	1	0	0	0	0	1	0	0	0	8275	1493	52	3	6661	3	KIAA1244	6	138657616	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	64465708	138657616	32457451	20	39810											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	380	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		55221822	103916841	21	39811											
CASD1	64921	broad.mit.edu	37	chr7	94163000	94163000	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctttttagtggtccatcAagattcacaatggtagcagt	10	15	8	8	0	3	1	2	0	1	1	4	1	4	1	1	2	1	2	1	2	4	6			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:94163000A>G	ENST00000297273.4	+	7	801	c.514A>G	c.(514-516)Aag>Gag	p.K172E		NM_022900.4	NP_075051.4	Q96PB1	CASD1_HUMAN	CAS1 domain containing 1	172						integral to membrane				NS(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(3)|stomach(2)|upper_aerodigestive_tract(1)	31	all_cancers(62;6.71e-10)|all_epithelial(64;5e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGGTCCATCAAGATTCACAA	0.294													G	94163000	A	G	94163000	3	3	380	1	0	0	0	0	1	0	0	0	2690	131	5	3	540	3	CASD1	7	94163000	Missense_Mutation	SNP	A	TCGA-DU-6410-01A-11D-1893-08	38941178	94163000	64975663	22	39812											
CFTR	1080	broad.mit.edu	37	chr7	117304899	117304899	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcttgatgaacccagtgCtcatttggatccagtgtgag	8	12	12	9	0	1	3	1	3	0	0	2	4	2	4	2	1	3	3	2	1	1	2	rs115147093	by1000genomes	TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr7:117304899C>T	ENST00000003084.6	+	25	4253	c.4121C>T	c.(4120-4122)gCt>gTt	p.A1374V	CFTR_ENST00000454343.1_Missense_Mutation_p.A1313V	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1374	ABC transporter 2.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	GAACCCAGTGCTCATTTGGAT	0.453									Cystic Fibrosis				T	117304899	C	T	117304899	3	4	380	1	0	0	0	0	1	0	0	0	3324	797	28	2	4219	2	CFTR	7	117304899	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	23141899	117304899	41833764	23	39813											
KLHL38	340359	broad.mit.edu	37	chr8	124664667	124664667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaggtcggccgatgcgGccacctctgggaaggacgtc	6	7	14	14	4	2	0	1	0	1	0	4	3	2	2	4	5	1	0	4	5	1	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr8:124664667G>A	ENST00000325995.7	-	1	523	c.500C>T	c.(499-501)gCc>gTc	p.A167V	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	167	BACK.									breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GGCCGATGCGGCCACCTCTGG	0.567													A	124664667	G	A	124664667	3	1	380	1	0	0	0	0	1	0	0	0	8448	1203	42	2	1257	2	KLHL38	8	124664667	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		124664667	21699355	24	39814											
FUBP3	8939	broad.mit.edu	37	chr9	133506050	133506050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagcatcaaccagcagtcaGgggcgcacgtggagcttcag	12	5	13	11	2	3	0	3	0	0	0	3	1	3	1	1	3	4	4	1	3	2	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:133506050G>A	ENST00000319725.9	+	13	1228	c.1153G>A	c.(1153-1155)Ggg>Agg	p.G385R		NM_003934.1	NP_003925.1	Q96I24	FUBP3_HUMAN	far upstream element (FUSE) binding protein 3	385	KH 4.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|RNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(10)|ovary(2)|urinary_tract(2)	21				OV - Ovarian serous cystadenocarcinoma(145;0.000279)		CCAGCAGTCAGGGGCGCACGT	0.612													A	133506050	G	A	133506050	3	1	380	1	0	0	0	0	1	0	0	0	6145	1000	35	2	1203	2	FUBP3	9	133506050	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		133506050	7707381	25	39815											
SURF4	6836	broad.mit.edu	37	chr9	136230559	136230559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagccacacaacaagaGtcaaagcagccagcttggtt	16	5	9	11	0	1	2	1	0	0	2	1	2	1	2	2	1	5	3	2	1	4	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr9:136230559G>A	ENST00000371989.3	-	6	749	c.620C>T	c.(619-621)aCt>aTt	p.T207I	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000467910.1_5'UTR|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	207						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		CACAACAAGAGTCAAAGCAGC	0.443													A	136230559	G	A	136230559	3	1	380	1	0	0	0	0	1	0	0	0	15501	1029	36	2	193	2	SURF4	9	136230559	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	2724509	136230559	4982872	26	39816											
ARMC3	219681	broad.mit.edu	37	chr10	23287189	23287189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaacatggccatgcaggagCccctgcgcctgaacatacag	12	5	10	14	1	0	1	0	1	0	0	0	2	0	2	4	2	6	1	4	2	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:23287189C>A	ENST00000298032.5	+	11	1372	c.1288C>A	c.(1288-1290)Ccc>Acc	p.P430T	ARMC3_ENST00000376528.4_Missense_Mutation_p.P167T|ARMC3_ENST00000409983.3_Missense_Mutation_p.P430T|ARMC3_ENST00000409049.3_Missense_Mutation_p.P430T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	430							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATGCAGGAGCCCCTGCGCCT	0.493													A	23287189	C	A	23287189	3	1	380	1	0	0	0	0	1	0	0	0	957	739	26	4	1326	4	ARMC3	10	23287189	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		23287189	112247558	27	39817											
APBB1IP	54518	broad.mit.edu	37	chr10	26802585	26802585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatgctgtatttaaaaaccCccaggtaagatgatctgcat	14	12	7	8	0	1	2	0	1	1	1	1	2	1	2	2	1	3	4	2	1	6	5			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:26802585C>T	ENST00000376236.4	+	8	1264	c.809C>T	c.(808-810)cCc>cTc	p.P270L		NM_019043.3	NP_061916.3	Q7Z5R6	AB1IP_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 interacting protein	270					blood coagulation|signal transduction	cytoskeleton|cytosol|focal adhesion|lamellipodium				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(27)|skin(7)|upper_aerodigestive_tract(1)	45						TTTAAAAACCCCCAGGTAAGA	0.348													T	26802585	C	T	26802585	3	4	380	1	0	0	0	0	1	0	0	0	762	623	22	2	831	2	APBB1IP	10	26802585	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	3515396	26802585	108732162	28	39818											
HK1	3098	broad.mit.edu	37	chr10	71136763	71136763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtcaagatggccaaggagGgcctcttatttgaagggcgg	10	9	15	7	1	2	2	1	1	1	1	2	3	2	3	2	5	0	0	2	5	5	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:71136763G>A	ENST00000448642.2	+	13	1443	c.1054G>A	c.(1054-1056)Ggc>Agc	p.G352S	HK1_ENST00000298649.3_Missense_Mutation_p.G316S|HK1_ENST00000360289.2_Missense_Mutation_p.G305S|HK1_ENST00000404387.2_Missense_Mutation_p.G321S|HK1_ENST00000359426.6_Missense_Mutation_p.G317S|HK1_ENST00000494253.1_3'UTR			P19367	HXK1_HUMAN	hexokinase 1	317	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						GGCCAAGGAGGGCCTCTTATT	0.537													A	71136763	G	A	71136763	3	1	380	1	0	0	0	0	1	0	0	0	7245	1232	43	2	1157	2	HK1	10	71136763	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	44334178	71136763	64397984	29	39819											
ABCC2	1244	broad.mit.edu	37	chr10	101594197	101594197	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggattacatgcttcCtggggataatcagcaccctt	9	11	10	11	0	1	0	1	0	0	0	2	2	2	2	2	3	4	4	2	3	2	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:101594197C>T	ENST00000370449.4	+	24	3432	c.3319C>T	c.(3319-3321)Ctg>Ttg	p.L1107L		NM_000392.3	NP_000383	Q92887	MRP2_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 2	1107	ABC transmembrane type-1 2.					apical plasma membrane|integral to plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|organic anion transmembrane transporter activity			NS(1)|breast(5)|endometrium(9)|kidney(2)|large_intestine(20)|liver(1)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	67		Colorectal(252;0.234)		Epithelial(162;2.77e-10)|all cancers(201;2.47e-08)	Adenosine triphosphate(DB00171)|Norgestimate(DB00957)|Pravastatin(DB00175)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	TACATGCTTCCTGGGGATAAT	0.478													T	101594197	C	T	101594197	2	4	380	1	0	0	0	0	0	0	0	1	53	680	24	2		2	ABCC2	10	101594197	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	30457434	101594197	33940550	30	39820											
BUB3	9184	broad.mit.edu	37	chr10	124921819	124921821	+	In_Frame_Del	DEL	AGA	AGA	-																															ggacccaagccctgaggtacAgaagaagaagtatgccttca																										TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr10:124921819_124921821delAGA	ENST00000368865.4	+	6	853_855	c.644_646delAGA	c.(643-648)cagaag>cag	p.K218del	BUB3_ENST00000538238.1_In_Frame_Del_p.K138del|BUB3_ENST00000368859.2_Intron|BUB3_ENST00000368858.5_In_Frame_Del_p.K218del|BUB3_ENST00000481952.1_3'UTR	NM_004725.3	NP_004716.1	O43684	BUB3_HUMAN	BUB3 mitotic checkpoint protein	218					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|attachment of spindle microtubules to kinetochore|cell division|meiosis|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	condensed chromosome kinetochore|cytosol|nucleus	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)				CCTGAGGTACAGAAGAAGAAGTA	0.389													-	124921821	AGA	-	124921819	7	5	380	1	0	1	0	1	0	0	0	0	1582	188	7	0	662	0	BUB3	10	124921819	In_Frame_Del	DEL	AGA	TCGA-DU-6410-01A-11D-1893-08	23327622	124921819	10612928	31	39821											
ANO5	203859	broad.mit.edu	37	chr11	22271916	22271916	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggaacataacacaagcAggtaagtgcacctgagttgc	15	7	10	9	0	0	1	0	1	0	0	0	2	0	2	1	2	5	4	1	2	5	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:22271916A>T	ENST00000324559.8	+	10	1329	c.1012A>T	c.(1012-1014)Agc>Tgc	p.S338C		NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	338						chloride channel complex|endoplasmic reticulum membrane	chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TAACACAAGCAGGTAAGTGCA	0.363													T	22271916	A	T	22271916	5	4	380	1	0	0	0	0	0	0	1	0	700	202	7	5	1050	5	ANO5	11	22271916	Splice_Site	SNP	A	TCGA-DU-6410-01A-11D-1893-08		22271916	112734600	32	39822											
MUC15	143662	broad.mit.edu	37	chr11	26584807	26584807	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatactattcctgtatttcTattttctacaggacaaaaaa	15	15	4	7	0	2	0	0	0	2	0	3	2	3	1	1	1	2	1	1	1	9	9			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:26584807T>C	ENST00000436318.2	-	3	914	c.781A>G	c.(781-783)Aga>Gga	p.R261G	MUC15_ENST00000527569.1_Intron|MUC15_ENST00000455601.2_Missense_Mutation_p.R234G|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000256737.3_Intron|ANO3_ENST00000531568.1_Intron|ANO3_ENST00000537978.1_Intron|MUC15_ENST00000281268.8_Intron|MUC15_ENST00000529533.1_Missense_Mutation_p.R261G			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	234						extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CCTGTATTTCTATTTTCTACA	0.328													C	26584807	T	C	26584807	3	2	380	1	0	0	0	0	1	0	0	0	10048	1530	53	3	312	3	MUC15	11	26584807	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08	4312891	26584807	108421709	33	39823											
MARK2	2011	broad.mit.edu	37	chr11	63667348	63667348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatcttacctcccaggcAgaaaacctgctcttggatgc	9	11	7	14	0	2	1	0	0	2	1	4	2	4	2	4	2	4	2	4	2	3	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:63667348A>G	ENST00000402010.2	+	8	1113	c.534A>G	c.(532-534)gcA>gcG	p.A178A	MARK2_ENST00000315032.8_Silent_p.A178A|MARK2_ENST00000513765.2_Silent_p.A145A|MARK2_ENST00000502399.3_Silent_p.A178A|MARK2_ENST00000377810.3_Silent_p.A145A|MARK2_ENST00000377809.4_Silent_p.A178A|MARK2_ENST00000509502.2_Silent_p.A145A|MARK2_ENST00000508192.1_Silent_p.A178A|MARK2_ENST00000408948.3_Silent_p.A145A|MARK2_ENST00000425897.2_Silent_p.A145A|MARK2_ENST00000361128.5_Silent_p.A178A|MARK2_ENST00000413835.2_Silent_p.A178A|MARK2_ENST00000350490.7_Silent_p.A178A	NM_001039469.2	NP_001034558.2	Q7KZI7	MARK2_HUMAN	MAP/microtubule affinity-regulating kinase 2	178	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			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						CCTCCCAGGCAGAAAACCTGC	0.498													G	63667348	A	G	63667348	2	3	380	1	0	0	0	0	0	0	0	1	9388	175	7	3		3	MARK2	11	63667348	Silent	SNP	A	TCGA-DU-6410-01A-11D-1893-08	37082541	63667348	71339168	34	39824											
SCYL1	57410	broad.mit.edu	37	chr11	65303494	65303494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgcaccgtcccgggttgCgggtgtcctgggctttgctg	1	13	16	11	3	0	0	0	0	0	0	2	0	2	0	3	3	3	5	3	3	0	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr11:65303494C>T	ENST00000524944.1	+	11	1490	c.1457C>T	c.(1456-1458)gCg>gTg	p.A486V	SCYL1_ENST00000525364.1_Missense_Mutation_p.A486V|SCYL1_ENST00000527009.1_Missense_Mutation_p.A343V|SCYL1_ENST00000533862.1_Missense_Mutation_p.A486V|SCYL1_ENST00000279270.6_Missense_Mutation_p.A486V|SCYL1_ENST00000270176.5_Missense_Mutation_p.A486V|SCYL1_ENST00000420247.2_Missense_Mutation_p.A486V			Q96KG9	NTKL_HUMAN	SCY1-like 1 (S. cerevisiae)	486					regulation of transcription, DNA-dependent|retrograde vesicle-mediated transport, Golgi to ER|transcription, DNA-dependent	cis-Golgi network|COPI vesicle coat|ER-Golgi intermediate compartment|microtubule organizing center|nucleus	ATP binding|DNA binding|protein tyrosine kinase activity			ovary(1)|skin(1)	2						TCCCGGGTTGCGGGTGTCCTG	0.597													T	65303494	C	T	65303494	3	4	380	1	0	0	0	0	1	0	0	0	14040	768	27	1	1499	1	SCYL1	11	65303494	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08	1636146	65303494	69703022	35	39825											
PTPRB	5787	broad.mit.edu	37	chr12	70980859	70980859	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgtagccatgtattttcGtccaggcaccaggtcagtaa	10	11	10	10	1	1	0	1	0	0	0	3	1	2	0	3	2	1	4	3	2	3	5			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr12:70980859G>A	ENST00000334414.6	-	9	2283	c.2239C>T	c.(2239-2241)Cga>Tga	p.R747*	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Nonsense_Mutation_p.R529*|PTPRB_ENST00000451516.2_Nonsense_Mutation_p.R439*|PTPRB_ENST00000551525.1_Nonsense_Mutation_p.R746*|PTPRB_ENST00000550358.1_Nonsense_Mutation_p.R747*|PTPRB_ENST00000261266.5_Nonsense_Mutation_p.R529*|PTPRB_ENST00000550857.1_Nonsense_Mutation_p.R439*	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	529	Fibronectin type-III 9.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATGTATTTTCGTCCAGGCACC	0.378													A	70980859	G	A	70980859	4	1	380	1	0	0	0	0	0	1	0	0	12884	1153	40	1	4512	1	PTPRB	12	70980859	Nonsense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		70980859	62871036	36	39826											
OR4K17	390436	broad.mit.edu	37	chr14	20586367	20586367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgggcaatctaaagccCgttccactttgactgctcac	9	11	7	14	1	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	4	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr14:20586367C>T	ENST00000315543.4	+	1	802	c.802C>T	c.(802-804)Cgt>Tgt	p.R268C		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		ATCTAAAGCCCGTTCCACTTT	0.438													T	20586367	C	T	20586367	3	4	380	1	0	0	0	0	1	0	0	0	11147	652	23	1	804	1	OR4K17	14	20586367	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		20586367	86763173	37	39827											
USP7	7874	broad.mit.edu	37	chr16	9000424	9000424	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcatcaagtggtaactgCtctgggaattcaaacctatt	13	13	7	8	0	4	0	3	0	1	0	4	1	4	1	1	2	3	2	1	2	6	5			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr16:9000424C>T	ENST00000344836.4	-	13	1485	c.1287G>A	c.(1285-1287)gaG>gaA	p.E429E	USP7_ENST00000535863.1_Silent_p.E330E|USP7_ENST00000381886.4_Silent_p.E413E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	429					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						GTGGTAACTGCTCTGGGAATT	0.318													T	9000424	C	T	9000424	2	4	380	1	0	0	0	0	0	0	0	1	17190	796	28	2		2	USP7	16	9000424	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08		9000424	81354329	38	39828											
ZFHX3	463	broad.mit.edu	37	chr16	72827287	72827287	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggtgttgtcaaacatcccTtgctgctgagctgccagtcc	6	11	12	12	0	1	1	1	1	0	0	3	1	3	1	3	2	5	4	3	2	1	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr16:72827287T>C	ENST00000268489.5	-	9	9966	c.9294A>G	c.(9292-9294)caA>caG	p.Q3098Q	ZFHX3_ENST00000397992.5_Silent_p.Q2184Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3098					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CAAACATCCCTTGCTGCTGAG	0.547													C	72827287	T	C	72827287	2	2	380	1	0	0	0	0	0	0	0	1	17735	1606	56	3		3	ZFHX3	16	72827287	Silent	SNP	T	TCGA-DU-6410-01A-11D-1893-08	63826863	72827287	17527466	39	39829											
MYH4	4622	broad.mit.edu	37	chr17	10350515	10350515	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggcctctgatggcatcatCcaaatgtagctgagtgtcct	8	13	10	10	0	2	2	1	2	1	0	4	2	4	2	3	2	1	3	3	2	2	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:10350515C>A	ENST00000255381.2	-	35	5094	c.4984G>T	c.(4984-4986)Gat>Tat	p.D1662Y	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1662					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATGGCATCATCCAAATGTAGC	0.453													A	10350515	C	A	10350515	3	1	380	1	0	0	0	0	1	0	0	0	10113	855	30	4	859	4	MYH4	17	10350515	Missense_Mutation	SNP	C	TCGA-DU-6410-01A-11D-1893-08		10350515	70844695	40	39830											
KRT25	147183	broad.mit.edu	37	chr17	38906790	38906790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatctgagcctggatctgCgccagctgcgcacagtagtt	7	9	12	13	3	2	1	0	1	2	0	2	3	2	2	3	1	4	4	3	1	1	2			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562													T	38906790	C	T	38906790	2	4	380	1	0	0	0	0	0	0	0	1	8520	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-DU-6410-01A-11D-1893-08	28556275	38906790	42288420	41	39831											
UTP18	51096	broad.mit.edu	37	chr17	49371388	49371388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccttggggaatgaaaaggGcaaggccctgatgtataggt	11	9	15	6	0	0	2	0	2	0	0	0	3	0	3	2	5	1	2	2	5	6	3			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:49371388G>A	ENST00000225298.7	+	12	1685	c.1628G>A	c.(1627-1629)gGc>gAc	p.G543D		NM_016001.2	NP_057085.2	Q9Y5J1	UTP18_HUMAN	UTP18 small subunit (SSU) processome component homolog (yeast)	543				GKALMYRLHHYSDF -> ARP (in Ref. 1; AAD34043).	rRNA processing	nucleolus				breast(2)|endometrium(3)|kidney(2)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16			BRCA - Breast invasive adenocarcinoma(22;2.09e-07)			AATGAAAAGGGCAAGGCCCTG	0.333													A	49371388	G	A	49371388	3	1	380	1	0	0	0	0	1	0	0	0	17200	1203	42	2	1674	2	UTP18	17	49371388	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08	10464598	49371388	31823822	42	39832											
RNF213	57674	broad.mit.edu	37	chr17	78320934	78320934	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtccaagggtactttgcGtcctttgccaaagcctacga	9	10	10	12	3	0	0	0	0	0	0	2	2	2	0	4	1	5	1	4	1	4	4	rs141391616		TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr17:78320934G>A	ENST00000582970.1	+	29	8942	c.8799G>A	c.(8797-8799)gcG>gcA	p.A2933A	RNF213_ENST00000336301.6_Silent_p.A1006A|RNF213_ENST00000508628.2_Silent_p.A2982A	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0								p.A1006A(1)|p.A2982A(1)		NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			GGTACTTTGCGTCCTTTGCCA	0.547													A	78320934	G	A	78320934	2	1	380	1	0	0	0	0	0	0	0	1	13568	1132	40	1		1	RNF213	17	78320934	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08	28949546	78320934	2874276	43	39833											
ZNF71	58491	broad.mit.edu	37	chr19	57133636	57133636	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcgagaagccctacgtGtgcggcgagtgcggcaaggc	8	4	17	12	6	0	1	0	0	0	1	0	3	0	1	2	4	4	1	2	4	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr19:57133636G>A	ENST00000328070.6	+	3	1215	c.981G>A	c.(979-981)gtG>gtA	p.V327V		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	327						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		AGCCCTACGTGTGCGGCGAGT	0.642													A	57133636	G	A	57133636	2	1	380	1	0	0	0	0	0	0	0	1	18215	1364	48	2		2	ZNF71	19	57133636	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08		57133636	1995347	44	39834											
ENTPD6	955	broad.mit.edu	37	chr20	25201921	25201921	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctcccagtttcaaaggaGagtgggaacacgcagaagtc	12	8	12	9	1	2	2	1	0	1	2	4	4	2	3	1	2	1	2	1	2	3	1			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr20:25201921G>C	ENST00000360031.2	+	11	1176	c.994G>C	c.(994-996)Gag>Cag	p.E332Q	ENTPD6_ENST00000376652.4_Missense_Mutation_p.E333Q|ENTPD6_ENST00000433259.2_Intron|ENTPD6_ENST00000354989.5_Missense_Mutation_p.E316Q	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	333						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						TTTCAAAGGAGAGTGGGAACA	0.517													C	25201921	G	C	25201921	3	2	380	1	0	0	0	0	1	0	0	0	5184	943	33	4	1042	4	ENTPD6	20	25201921	Missense_Mutation	SNP	G	TCGA-DU-6410-01A-11D-1893-08		25201921	37823599	45	39835											
DIP2A	23181	broad.mit.edu	37	chr21	47952057	47952057	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtggcgctcgtgtttccGaatagtgaccctgtgatgtt	6	14	13	8	3	0	2	0	2	0	0	2	3	1	2	2	2	0	3	2	2	3	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr21:47952057G>T	ENST00000318711.7	+	10	1398	c.1215G>T	c.(1213-1215)ccG>ccT	p.P405P	DIP2A_ENST00000457905.3_Silent_p.P404P|DIP2A_ENST00000435722.3_Silent_p.P404P|DIP2A_ENST00000417564.2_Silent_p.P404P|DIP2A_ENST00000466639.1_Silent_p.P361P|DIP2A_ENST00000427143.2_Silent_p.P340P|DIP2A_ENST00000400274.1_Silent_p.P400P	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	404					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCGTGTTTCCGAATAGTGACC	0.378													T	47952057	G	T	47952057	2	4	380	1	0	0	0	0	0	0	0	1	4566	1045	37	4		4	DIP2A	21	47952057	Silent	SNP	G	TCGA-DU-6410-01A-11D-1893-08		47952057	177838	46	39836											
DDX17	10521	broad.mit.edu	37	chr22	38890947	38890947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccccatatcaagcattcTgtcagcttcgtccaatacaa	14	10	4	13	1	3	0	2	0	1	0	5	0	4	0	3	0	4	2	3	0	6	4			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chr22:38890947T>C	ENST00000396821.3	-	7	1084	c.985A>G	c.(985-987)Aga>Gga	p.R329G	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.R250G	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	250	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAGCATTCTGTCAGCTTCG	0.428													C	38890947	T	C	38890947	3	2	380	1	0	0	0	0	1	0	0	0	4378	1588	55	3	1238	3	DDX17	22	38890947	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08		38890947	12413619	47	39837											
USP9X	8239	broad.mit.edu	37	chrX	41057788	41057788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaactttttaggaattaaTtgatgatttcatatttcctg	11	20	5	5	0	2	2	2	2	0	0	3	3	3	3	1	1	1	0	1	1	5	9			TCGA-DU-6410-01A-11D-1893-08	TCGA-DU-6410-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f978b356-f9ee-415d-b39c-a8ef1b221734	2b140fc8-fb90-4bf3-93e2-ce81a83a703a	g.chrX:41057788T>C	ENST00000324545.8	+	30	5021	c.4388T>C	c.(4387-4389)aTt>aCt	p.I1463T	USP9X_ENST00000378308.2_Missense_Mutation_p.I1463T	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TAGGAATTAATTGATGATTTC	0.318													C	41057788	T	C	41057788	3	2	380	1	0	0	0	0	1	0	0	0	17192	1493	52	3	4502	3	USP9X	23	41057788	Missense_Mutation	SNP	T	TCGA-DU-6410-01A-11D-1893-08		41057788	114212772	48	39838											
SLC2A5	6518	broad.mit.edu	37	chr1	9100209	9100209	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaaggagctgcagcGccgcggggaccccggtcagc	8	2	17	14	4	1	1	1	0	0	1	1	3	1	3	3	4	5	4	3	4	1	0			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:9100209G>C	ENST00000377424.4	-	6	790	c.611C>G	c.(610-612)gCg>gGg	p.A204G	SLC2A5_ENST00000377414.3_3'UTR|SLC2A5_ENST00000536305.1_Missense_Mutation_p.A145G|SLC2A5_ENST00000535586.1_Missense_Mutation_p.A89G	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	204					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GAGCTGCAGCGCCGCGGGGAC	0.677													C	9100209	G	C	9100209	3	2	381	1	0	0	0	0	1	0	0	0	14642	1087	38	4	922	4	SLC2A5	1	9100209	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		9100209	240150412	1	39839											
CLCN6	1185	broad.mit.edu	37	chr1	11883807	11883810	+	Frame_Shift_Del	DEL	TGAA	TGAA	-																															acccgaggtcaaatgctatcTgaatggcgtaaaggtgccag																										TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:11883807_11883810delTGAA	ENST00000346436.6	+	7	549_552	c.497_500delTGAA	c.(496-501)ctgaatfs	p.LN166fs	CLCN6_ENST00000376496.3_Frame_Shift_Del_p.LN166fs|CLCN6_ENST00000312413.6_Frame_Shift_Del_p.LN166fs|CLCN6_ENST00000376487.3_Frame_Shift_Del_p.LN144fs|CLCN6_ENST00000376492.3_3'UTR	NM_001286.3	NP_001277	P51797	CLCN6_HUMAN	chloride channel, voltage-sensitive 6	166					cell volume homeostasis|signal transduction	endosome membrane|integral to membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(4)	36	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000816)|KIRC - Kidney renal clear cell carcinoma(229;0.00268)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAATGCTATCTGAATGGCGTAAAG	0.554													-	11883810	TGAA	-	11883807	7	5	381	1	0	1	0	1	0	0	0	0	3498	1580	55	0	523	0	CLCN6	1	11883807	Frame_Shift_Del	DEL	TGAA	TCGA-DU-6542-01A-11D-1893-08	2783598	11883807	237366814	2	39840											
PLA2G2D	26279	broad.mit.edu	37	chr1	20442002	20442002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaggtctgcgtactcacagCagtggatgttcccctgggaa	8	10	13	10	1	2	1	1	1	1	0	3	3	3	3	2	3	3	3	2	3	2	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:20442002C>T	ENST00000375105.3	-	3	348	c.290G>A	c.(289-291)tGc>tAc	p.C97Y		NM_012400.2	NP_036532.1	Q9UNK4	PA2GD_HUMAN	phospholipase A2, group IID	97					inflammatory response|lipid catabolic process|phospholipid metabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			endometrium(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00526)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|COAD - Colon adenocarcinoma(152;1.15e-05)|BRCA - Breast invasive adenocarcinoma(304;8.01e-05)|Kidney(64;0.000175)|GBM - Glioblastoma multiforme(114;0.000798)|KIRC - Kidney renal clear cell carcinoma(64;0.00261)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GTACTCACAGCAGTGGATGTT	0.547										Multiple Myeloma(11;0.12)			T	20442002	C	T	20442002	3	4	381	1	0	0	0	0	1	0	0	0	12074	710	25	2	155	2	PLA2G2D	1	20442002	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	8558195	20442002	228808619	3	39841											
INADL	10207	broad.mit.edu	37	chr1	62586854	62586854	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgggtctttctttcaggGtagtcagcagagtgcacaca	8	11	11	11	0	4	1	2	0	2	1	4	1	4	1	1	2	2	3	1	2	1	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:62586854G>A	ENST00000371158.2	+	38	5006	c.4892G>A	c.(4891-4893)gGt>gAt	p.G1631D	INADL_ENST00000472512.1_3'UTR	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	1631					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						TTCTTTCAGGGTAGTCAGCAG	0.493													A	62586854	G	A	62586854	5	1	381	1	0	0	0	0	0	0	1	0	7789	1275	44	2	5038	2	INADL	1	62586854	Splice_Site	SNP	G	TCGA-DU-6542-01A-11D-1893-08	42144852	62586854	186663767	4	39842											
SELP	6403	broad.mit.edu	37	chr1	169581487	169581487	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggctggggctgtccataccCccgaggctgtgcattgcacc	5	8	14	14	1	0	0	0	0	0	0	1	1	1	0	4	4	3	5	4	4	1	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:169581487C>A	ENST00000263686.6	-	6	966	c.929G>T	c.(928-930)gGg>gTg	p.G310V	SELP_ENST00000367792.2_Missense_Mutation_p.G310V|SELP_ENST00000367791.2_Missense_Mutation_p.G310V|SELP_ENST00000458599.2_Missense_Mutation_p.G310V|SELP_ENST00000367788.2_Intron|SELP_ENST00000367794.2_Missense_Mutation_p.G310V|SELP_ENST00000367786.2_Missense_Mutation_p.G310V|SELP_ENST00000367793.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2.				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)	TGTCCATACCCCCGAGGCTGT	0.488													A	169581487	C	A	169581487	3	1	381	1	0	0	0	0	1	0	0	0	14112	623	22	4	1607	4	SELP	1	169581487	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	106994633	169581487	79669134	5	39843											
TNN	63923	broad.mit.edu	37	chr1	175046809	175046809	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaggaacagaacatcatCttcaggcacaacatccgcct	14	6	9	12	1	3	1	2	0	1	1	4	3	4	3	2	3	3	1	2	3	3	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:175046809C>A	ENST00000239462.4	+	2	368	c.255C>A	c.(253-255)atC>atA	p.I85I		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	85					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		AGAACATCATCTTCAGGCACA	0.607													A	175046809	C	A	175046809	2	1	381	1	0	0	0	0	0	0	0	1	16423	903	32	4		4	TNN	1	175046809	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	5465322	175046809	74203812	6	39844											
HMCN1	83872	broad.mit.edu	37	chr1	186045567	186045567	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctccatagttcctccAagttttcagaaactctggga	9	14	6	12	0	2	1	1	0	1	1	6	2	6	2	4	1	1	2	4	1	3	5			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr1:186045567A>T	ENST00000271588.4	+	54	8527	c.8298A>T	c.(8296-8298)ccA>ccT	p.P2766P	HMCN1_ENST00000367492.2_Silent_p.P2766P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2766	Ig-like C2-type 26.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTTTTCAGA	0.378													T	186045567	A	T	186045567	2	4	381	1	0	0	0	0	0	0	0	1	7275	117	5	5		5	HMCN1	1	186045567	Silent	SNP	A	TCGA-DU-6542-01A-11D-1893-08	10998758	186045567	63205054	7	39845											
TTN	7273	broad.mit.edu	37	chr2	179422678	179422678	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaccaggcctgtctaGcacaacaatgttaatgaaag	14	8	11	8	0	1	1	0	1	1	0	1	3	1	3	2	3	2	2	2	3	5	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179422678G>C	ENST00000589042.1	-	328	87627	c.87403C>G	c.(87403-87405)Cta>Gta	p.L29135V	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L20262V|TTN_ENST00000591111.1_Missense_Mutation_p.L27494V|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L26567V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L20070V|TTN_ENST00000359218.5_Missense_Mutation_p.L20195V|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27494	Fibronectin type-III 112.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGCCTGTCTAGCACAACAATG	0.448													C	179422678	G	C	179422678	3	2	381	1	0	0	0	0	1	0	0	0	16837	962	34	4	20716	4	TTN	2	179422678	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		179422678	63776695	8	39846											
TTN	7273	broad.mit.edu	37	chr2	179480443	179480443	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatttgttacgagcacaaaCtttaaataagtactcttttc	14	15	4	8	1	1	0	0	0	1	0	2	1	1	0	0	0	4	3	0	0	6	8			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:179480443C>G	ENST00000589042.1	-	258	48609	c.48385G>C	c.(48385-48387)Gtt>Ctt	p.V16129L	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V7256L|TTN_ENST00000591111.1_Missense_Mutation_p.V14488L|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V13561L|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.V7064L|TTN_ENST00000359218.5_Missense_Mutation_p.V7189L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14488	Fibronectin type-III 17.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGAGCACAAACTTTAAATAAG	0.373													G	179480443	C	G	179480443	3	3	381	1	0	0	0	0	1	0	0	0	16837	565	20	4	59728	4	TTN	2	179480443	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	57765	179480443	63718930	9	39847											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	381	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	29632669	209113112	34086261	10	39848											
UGT1A6	54578	broad.mit.edu	37	chr2	234602346	234602346	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttcaaagtatgaagaactCgcatcagctgtcctcaagag	13	11	8	9	1	3	3	3	1	0	2	5	3	4	3	1	0	2	3	1	0	5	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:234602346C>T	ENST00000305139.6	+	1	835	c.696C>T	c.(694-696)ctC>ctT	p.L232L	UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000406651.1_5'UTR|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A1_ENST00000373450.4_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		ATGAAGAACTCGCATCAGCTG	0.393													T	234602346	C	T	234602346	2	4	381	1	0	0	0	0	0	0	0	1	17051	871	31	1		1	UGT1A6	2	234602346	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	25489234	234602346	8597027	11	39849											
SNED1	25992	broad.mit.edu	37	chr2	242003028	242003028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgagtgccgagctcaccCgtgcagaaatggagggtcct	9	7	15	10	2	1	2	1	1	0	1	2	5	2	4	3	3	3	2	3	3	1	0			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr2:242003028C>T	ENST00000310397.8	+	18	2396	c.2396C>T	c.(2395-2397)cCg>cTg	p.P799L	SNED1_ENST00000342631.6_Missense_Mutation_p.P799L|SNED1_ENST00000401884.1_Missense_Mutation_p.P799L|SNED1_ENST00000405547.3_Missense_Mutation_p.P799L|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	799	EGF-like 12; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGAGCTCACCCGTGCAGAAAT	0.622													T	242003028	C	T	242003028	3	4	381	1	0	0	0	0	1	0	0	0	14939	652	23	1	2466	1	SNED1	2	242003028	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	7400682	242003028	1196345	12	39850											
CELSR3	1951	broad.mit.edu	37	chr3	48694173	48694173	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgtagcctccctcgcGccgcgcgcaggctccgccgt	3	6	13	19	8	0	0	0	0	0	0	3	0	2	0	5	1	1	4	5	1	1	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:48694173G>A	ENST00000544264.1	-	2	4637	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	CELSR3_ENST00000164024.4_Missense_Mutation_p.R1453C			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1453	EGF-like 2; calcium-binding.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCTCCCTCGCGCCGCGCGCAG	0.726													A	48694173	G	A	48694173	3	1	381	1	0	0	0	0	1	0	0	0	3253	1087	38	1	5717	1	CELSR3	3	48694173	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		48694173	149328257	13	39851											
WDR52	55779	broad.mit.edu	37	chr3	113098287	113098287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcctcttcctcctcctgaaAttctttttctccatcttctc	4	19	1	17	0	5	1	0	1	5	0	11	1	9	1	5	0	0	0	5	0	1	5			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr3:113098287A>G	ENST00000393845.2	-	17	2230	c.2164T>C	c.(2164-2166)Ttt>Ctt	p.F722L	WDR52_ENST00000295868.2_Missense_Mutation_p.F722L	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	722	Glu-rich.									breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						tcctcctGAAATTCTTTTTCT	0.453													G	113098287	A	G	113098287	3	3	381	1	0	0	0	0	1	0	0	0	17406	101	4	3	3491	3	WDR52	3	113098287	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08	64404114	113098287	84924143	14	39852											
GABRG1	2565	broad.mit.edu	37	chr4	46099328	46099328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacccaggttttgttcaccGttaaatcctcatcatcttca	10	14	5	12	1	5	1	4	0	1	1	6	1	6	1	3	1	0	3	3	1	2	5			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:46099328G>A	ENST00000295452.4	-	2	310	c.143C>T	c.(142-144)aCg>aTg	p.T48M		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	48					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.T48M(4)		breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		TTTGTTCACCGTTAAATCCTC	0.343													A	46099328	G	A	46099328	3	1	381	1	0	0	0	0	1	0	0	0	6223	1145	40	1	1286	1	GABRG1	4	46099328	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08		46099328	145054948	15	39853											
GLRA3	8001	broad.mit.edu	37	chr4	175565195	175565195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggctgtgaagctgaatcgGctttcccttacctcatcatc	8	13	8	12	1	2	2	2	2	0	0	5	2	3	2	2	2	2	3	2	2	4	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:175565195G>A	ENST00000274093.3	-	10	1639	c.1137C>T	c.(1135-1137)agC>agT	p.S379S	GLRA3_ENST00000340217.5_Silent_p.S364S	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	379					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	AGCTGAATCGGCTTTCCCTTA	0.438													A	175565195	G	A	175565195	2	1	381	1	0	0	0	0	0	0	0	1	6512	1194	42	2		2	GLRA3	4	175565195	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	129465867	175565195	15589081	16	39854											
VEGFC	7424	broad.mit.edu	37	chr4	177605151	177605151	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcactatatgaaaatcctgGctcacaagccttctggcggt	10	12	8	11	1	3	1	2	1	1	0	4	1	4	1	2	3	1	1	2	3	5	4			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605151G>C	ENST00000280193.2	-	7	1604	c.1189C>G	c.(1189-1191)Cca>Gca	p.P397A	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	397					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		GAAAATCCTGGCTCACAAGCC	0.418													C	177605151	G	C	177605151	3	2	381	1	0	0	0	0	1	0	0	0	17254	1203	42	4	77	4	VEGFC	4	177605151	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08	2039956	177605151	13549125	17	39855			1	46		2	2	15	N	T_G	1.582841e-05
VEGFC	7424	broad.mit.edu	37	chr4	177605165	177605165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggctcacaagccttcTggcggttcgtacatggccgt	6	11	11	13	3	2	0	1	0	1	0	4	0	3	0	3	4	2	3	3	4	2	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr4:177605165T>C	ENST00000280193.2	-	7	1590	c.1175A>G	c.(1174-1176)cAg>cGg	p.Q392R	RP11-313E19.2_ENST00000509194.1_RNA|RP11-313E19.2_ENST00000504017.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	392					angiogenesis|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of mast cell chemotaxis|substrate-dependent cell migration|vascular endothelial growth factor receptor signaling pathway	membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity			biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		ACAAGCCTTCTGGCGGTTCGT	0.418													C	177605165	T	C	177605165	3	2	381	1	0	0	0	0	1	0	0	0	17254	1580	55	3	91	3	VEGFC	4	177605165	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08	14	177605165	13549111	18	39856			1	46		2	2	15	N	T_G	1.582841e-05
DDX43	55510	broad.mit.edu	37	chr6	74117789	74117789	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgaatgatctgcaaatgAgtaacttcgtcaatctgaag	14	12	9	6	1	3	4	1	4	2	0	4	5	3	4	0	0	2	2	0	0	5	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr6:74117789A>G	ENST00000370336.4	+	9	1302	c.1144A>G	c.(1144-1146)Agt>Ggt	p.S382G	DDX43_ENST00000479773.1_3'UTR	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	382	Helicase ATP-binding.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						TCTGCAAATGAGTAACTTCGT	0.388													G	74117789	A	G	74117789	3	3	381	1	0	0	0	0	1	0	0	0	4397	304	11	3	1178	3	DDX43	6	74117789	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08		74117789	96997278	19	39857											
ZAN	7455	broad.mit.edu	37	chr7	100370923	100370923	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagctatgaggtgcccacCtggcagcagctacagcccct	8	9	10	14	0	0	1	0	1	0	0	0	1	0	1	4	2	6	4	4	2	3	4			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:100370923C>T	ENST00000542585.1	+	0	5589				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AGGTGCCCACCTGGCAGCAGC	0.587													T	100370923	C	T	100370923	1	4	381	0	1	0	0	0	0	0	0	0	17615	681	24	2		2	ZAN	7	100370923	RNA	SNP	C	TCGA-DU-6542-01A-11D-1893-08		100370923	58767740	20	39858											
TRPV5	56302	broad.mit.edu	37	chr7	142609711	142609711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtgtcgcccatcatggcGatgaacaagttgagcatgag	10	9	14	8	2	1	3	1	3	0	0	2	4	1	3	1	2	2	2	1	2	2	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:142609711G>A	ENST00000265310.1	-	13	2073	c.1725C>T	c.(1723-1725)atC>atT	p.I575I		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	575					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					CCATCATGGCGATGAACAAGT	0.542													A	142609711	G	A	142609711	2	1	381	1	0	0	0	0	0	0	0	1	16700	1048	37	1		1	TRPV5	7	142609711	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	42238788	142609711	16528952	21	39859											
ABCF2	10061	broad.mit.edu	37	chr7	150911221	150911221	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccttgtaagccaggatGtctccaggccacttggtgat	7	12	11	11	0	1	1	0	1	1	0	3	2	2	2	4	3	2	2	4	3	1	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr7:150911221G>A	ENST00000287844.2	-	15	1900	c.1791C>T	c.(1789-1791)gaC>gaT	p.D597D	ABCF2_ENST00000222388.2_Silent_p.D597D	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	597	ABC transporter 2.					ATP-binding cassette (ABC) transporter complex|mitochondrial envelope	ATP binding|ATPase activity|transporter activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGCCAGGATGTCTCCAGGCC	0.542													A	150911221	G	A	150911221	2	1	381	1	0	0	0	0	0	0	0	1	66	1368	48	2		2	ABCF2	7	150911221	Silent	SNP	G	TCGA-DU-6542-01A-11D-1893-08	8301510	150911221	8227442	22	39860											
PCMTD1	115294	broad.mit.edu	37	chr8	52733124	52733124	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgattacccacaaatacgtaAgtgttaattctctgtttaac	13	15	5	8	1	1	1	0	1	1	0	2	1	1	1	1	0	3	3	1	0	6	7			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr8:52733124A>T	ENST00000360540.5	-	7	1267	c.861T>A	c.(859-861)acT>acA	p.T287T	PCMTD1_ENST00000544451.1_Silent_p.T211T|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Silent_p.T287T	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	287						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAAATACGTAAGTGTTAATTC	0.393													T	52733124	A	T	52733124	2	4	381	1	0	0	0	0	0	0	0	1	11662	59	3	5		5	PCMTD1	8	52733124	Silent	SNP	A	TCGA-DU-6542-01A-11D-1893-08		52733124	93630898	23	39861											
PTPRD	5789	broad.mit.edu	37	chr9	8376664	8376664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccacagtatcaagcagCgttacttgaacgagtccgtg	11	9	10	11	3	1	1	1	1	0	0	3	2	3	1	2	0	5	4	2	0	4	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr9:8376664C>T	ENST00000381196.4	-	35	4992	c.4449G>A	c.(4447-4449)acG>acA	p.T1483T	PTPRD_ENST00000355233.5_Silent_p.T1077T|PTPRD_ENST00000540109.1_Silent_p.T1483T|PTPRD_ENST00000356435.5_Silent_p.T1483T|PTPRD_ENST00000537002.1_Silent_p.T1073T|PTPRD_ENST00000397606.3_Silent_p.T1076T|PTPRD_ENST00000397617.3_Silent_p.T1076T|PTPRD_ENST00000397611.3_Silent_p.T1073T|PTPRD_ENST00000358503.5_Silent_p.T1461T|PTPRD_ENST00000486161.1_Silent_p.T1076T|PTPRD_ENST00000360074.4_Silent_p.T1470T	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1483	Tyrosine-protein phosphatase 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TATCAAGCAGCGTTACTTGAA	0.453										TSP Lung(15;0.13)			T	8376664	C	T	8376664	2	4	381	1	0	0	0	0	0	0	0	1	12887	755	27	1		1	PTPRD	9	8376664	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08		8376664	132836767	24	39862											
ARHGAP22	58504	broad.mit.edu	37	chr10	49658514	49658514	+	Frame_Shift_Del	DEL	G	G	-																															cctcgctgctgctggggagcGgggagggctccagggcccag																										TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:49658514delG	ENST00000249601.4	-	9	1954	c.1658delC	c.(1657-1659)ccgfs	p.P553fs	ARHGAP22_ENST00000374170.1_Frame_Shift_Del_p.P394fs|ARHGAP22_ENST00000417912.2_Frame_Shift_Del_p.P569fs|ARHGAP22_ENST00000435790.2_Frame_Shift_Del_p.P559fs|ARHGAP22_ENST00000477708.2_Frame_Shift_Del_p.P386fs|ARHGAP22_ENST00000374172.1_Frame_Shift_Del_p.P444fs|ARHGAP22_ENST00000417247.2_Frame_Shift_Del_p.P463fs	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	553	Ser-rich.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTGGGGAGCGGGGAGGGCTC	0.726													-	49658514	G	-	49658514	7	5	381	1	0	1	0	1	0	0	0	0	875	1116	39	0	446	0	ARHGAP22	10	49658514	Frame_Shift_Del	DEL	G	TCGA-DU-6542-01A-11D-1893-08		49658514	85876233	25	39863											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118364906	118364906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctatttcaagggggattcTcaaaccaggctcaacccatt	11	11	7	12	0	4	0	3	0	2	0	5	1	4	1	2	3	2	1	2	3	4	4			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr10:118364906T>C	ENST00000528052.1	+	12	1252	c.1181T>C	c.(1180-1182)cTc>cCc	p.L394P	PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L394P|PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L394P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	394	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		AGGGGGATTCTCAAACCAGGC	0.383													C	118364906	T	C	118364906	3	2	381	1	0	0	0	0	1	0	0	0	12227	1551	54	3	1223	3	PNLIPRP1	10	118364906	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08	68706392	118364906	17169841	26	39864											
OR4X1	390113	broad.mit.edu	37	chr11	48285724	48285724	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgttttccctccatttCtttggtggcactgaggcctt	5	16	9	11	0	1	2	0	1	1	1	3	2	3	2	3	3	0	2	3	3	0	5			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:48285724C>A	ENST00000320048.1	+	1	312	c.312C>A	c.(310-312)ttC>ttA	p.F104L		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						CCCTCCATTTCTTTGGTGGCA	0.498													A	48285724	C	A	48285724	3	1	381	1	0	0	0	0	1	0	0	0	11160	912	32	4	314	4	OR4X1	11	48285724	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08		48285724	86720792	27	39865											
TRIM48	79097	broad.mit.edu	37	chr11	55035824	55035824	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctattttttttttttacAggcttttggagacatattat	8	24	5	4	0	1	1	0	0	1	1	1	2	1	1	0	2	1	1	0	2	4	12			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55035824A>G	ENST00000417545.2	+	4	641		c.e4-1			NM_024114.3	NP_077019.2	Q8IWZ4	TRI48_HUMAN	tripartite motif containing 48							intracellular	zinc ion binding			endometrium(13)|lung(19)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						TTTTTTTTACAGGCTTTTGGA	0.343													G	55035824	A	G	55035824	5	3	381	1	0	0	0	0	0	0	1	0	16624	202	7	3	568	3	TRIM48	11	55035824	Splice_Site	SNP	A	TCGA-DU-6542-01A-11D-1893-08	6750100	55035824	79970692	28	39866											
OR8I2	120586	broad.mit.edu	37	chr11	55861308	55861308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgattccagcatcaatcaTtttttttgtgacaccacagc	10	15	6	10	0	2	2	2	2	0	0	3	2	3	2	2	0	2	1	2	0	1	5	rs112181516		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:55861308T>C	ENST00000302124.2	+	1	556	c.525T>C	c.(523-525)caT>caC	p.H175H		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C178fs*2(1)		NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					GCATCAATCATTTTTTTTGTG	0.443													C	55861308	T	C	55861308	2	2	381	1	0	0	0	0	0	0	0	1	11316	1490	52	3		3	OR8I2	11	55861308	Silent	SNP	T	TCGA-DU-6542-01A-11D-1893-08	825484	55861308	79145208	29	39867											
OR5M9	390162	broad.mit.edu	37	chr11	56230846	56230846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaggtcagccccaggagaGtaaattctgtcacatccgtg	11	8	11	11	1	3	1	2	0	1	1	4	3	4	1	3	2	1	1	3	2	2	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:56230846G>C	ENST00000279791.1	-	1	31	c.32C>G	c.(31-33)aCt>aGt	p.T11S		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	11					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					CCCCAGGAGAGTAAATTCTGT	0.418													C	56230846	G	C	56230846	3	2	381	1	0	0	0	0	1	0	0	0	11253	1029	36	4	902	4	OR5M9	11	56230846	Missense_Mutation	SNP	G	TCGA-DU-6542-01A-11D-1893-08	369538	56230846	78775670	30	39868											
P2RY6	5031	broad.mit.edu	37	chr11	73007739	73007739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtcccgccgggccctgaCccgcacggccgtgtacaccc	5	4	11	21	6	0	1	0	1	0	0	1	1	1	1	6	2	1	2	6	2	1	1			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr11:73007739C>T	ENST00000393590.2	+	2	475	c.176C>T	c.(175-177)aCc>aTc	p.T59I	P2RY6_ENST00000393592.2_Missense_Mutation_p.T59I|P2RY6_ENST00000349767.2_Missense_Mutation_p.T59I|P2RY6_ENST00000393591.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540124.1_Missense_Mutation_p.T59I|P2RY6_ENST00000542092.1_Missense_Mutation_p.T59I|P2RY6_ENST00000538328.1_Missense_Mutation_p.T59I|P2RY6_ENST00000540342.1_Missense_Mutation_p.T59I	NM_001277207.1|NM_001277208.1	NP_001264136.1|NP_001264137.1	Q15077	P2RY6_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 6	59					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)	14						CGGGCCCTGACCCGCACGGCC	0.612													T	73007739	C	T	73007739	3	4	381	1	0	0	0	0	1	0	0	0	11430	507	18	2	178	2	P2RY6	11	73007739	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	16776893	73007739	61998777	31	39869											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	381	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-DU-6542-01A-11D-1893-08		7578190	73617020	32	39870											
ADAP2	55803	broad.mit.edu	37	chr17	29271931	29271931	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctctctttcagggtaaaAgccccaaagctgtcatcagc	10	12	7	12	0	5	0	3	0	2	0	6	0	5	0	2	1	3	2	2	1	3	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:29271931A>G	ENST00000330889.3	+	6	852	c.517A>G	c.(517-519)Agc>Ggc	p.S173G	ADAP2_ENST00000580525.1_Missense_Mutation_p.S179G	NM_018404.2	NP_060874.1	Q9NPF8	ADAP2_HUMAN	ArfGAP with dual PH domains 2	173	PH 1.				heart development|regulation of ARF GTPase activity	mitochondrial envelope|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding, bridging|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						TCAGGGTAAAAGCCCCAAAGC	0.498													G	29271931	A	G	29271931	3	3	381	1	0	0	0	0	1	0	0	0	280	72	3	3	539	3	ADAP2	17	29271931	Missense_Mutation	SNP	A	TCGA-DU-6542-01A-11D-1893-08	21693741	29271931	51923279	33	39871											
ABCC3	8714	broad.mit.edu	37	chr17	48733300	48733300	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtgggtcgccctgccctgCtacttgctctacctgcggca	3	11	11	16	2	1	0	0	0	1	0	2	0	1	0	3	2	6	3	3	2	2	3			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:48733300C>T	ENST00000285238.8	+	2	233	c.153C>T	c.(151-153)tgC>tgT	p.C51C	ABCC3_ENST00000427699.1_Silent_p.C51C	NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	51					bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	CCCTGCCCTGCTACTTGCTCT	0.597													T	48733300	C	T	48733300	2	4	381	1	0	0	0	0	0	0	0	1	54	805	28	2		2	ABCC3	17	48733300	Silent	SNP	C	TCGA-DU-6542-01A-11D-1893-08	19461369	48733300	32461910	34	39872											
APPBP2	10513	broad.mit.edu	37	chr17	58556547	58556547	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacgaaaccaatgaagcatCtcatcgtgtagagtacacaa	16	7	8	10	2	1	2	1	1	1	1	3	3	1	2	1	0	3	4	1	0	6	2			TCGA-DU-6542-01A-11D-1893-08	TCGA-DU-6542-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96dd5230-96ed-40d9-a861-339fdb8a9842	d6e9d687-e7e6-475b-8290-ddea4d015a92	g.chr17:58556547C>G	ENST00000083182.3	-	4	752	c.465G>C	c.(463-465)gaG>gaC	p.E155D		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	155					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			AATGAAGCATCTCATCGTGTA	0.383													G	58556547	C	G	58556547	3	3	381	1	0	0	0	0	1	0	0	0	819	912	32	4	1332	4	APPBP2	17	58556547	Missense_Mutation	SNP	C	TCGA-DU-6542-01A-11D-1893-08	9823247	58556547	22638663	35	39873											
EPHA8	2046	broad.mit.edu	37	chr1	22915717	22915717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtaggcggagaaactccGtcccgcagcgtcctggtccc	7	6	13	15	4	0	1	0	0	0	1	4	2	4	1	4	4	2	2	4	4	2	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:22915717G>A	ENST00000374644.4	+	5	1405	c.1333G>A	c.(1333-1335)Gtc>Atc	p.V445I	EPHA8_ENST00000538803.1_Missense_Mutation_p.V445I|EPHA8_ENST00000166244.3_Intron	NM_001006943.1	NP_001006944.1	P29322	EPHA8_HUMAN	EPH receptor A8	0	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity	p.V445I(1)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		GAGAAACTCCGTCCCGCAGCG	0.667													A	22915717	G	A	22915717	3	1	382	1	0	0	0	0	1	0	0	0	5214	1145	40	1	1351	1	EPHA8	1	22915717	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		22915717	226334904	1	39874											
SRRM1	10250	broad.mit.edu	37	chr1	24977940	24977940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctagaagacgatcttccCctgtcaggagagagagaaag	13	6	11	11	1	2	4	1	0	1	4	3	8	3	5	4	1	0	0	4	1	3	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:24977940C>T	ENST00000323848.9	+	6	877	c.562C>T	c.(562-564)Cct>Tct	p.P188S	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000537199.1_Intron|SRRM1_ENST00000447431.2_Missense_Mutation_p.P188S|SRRM1_ENST00000374389.4_Missense_Mutation_p.P188S	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	188	Arg-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		ACGATCTTCCCCTGTCAGGAG	0.463													T	24977940	C	T	24977940	3	4	382	1	0	0	0	0	1	0	0	0	15264	623	22	2	584	2	SRRM1	1	24977940	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	2062223	24977940	224272681	2	39875											
MAST2	23139	broad.mit.edu	37	chr1	46499563	46499563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagggcagctacaaggccaaGatggcccgaaggagcaagag	15	2	15	9	1	0	2	0	0	0	2	0	4	0	3	2	4	3	3	2	4	6	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:46499563G>C	ENST00000361297.2	+	27	3910	c.3627G>C	c.(3625-3627)aaG>aaC	p.K1209N	MAST2_ENST00000372009.2_Missense_Mutation_p.K1116N	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1209					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAAGGCCAAGATGGCCCGAA	0.572													C	46499563	G	C	46499563	3	2	382	1	0	0	0	0	1	0	0	0	9400	933	33	4	3733	4	MAST2	1	46499563	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	21521623	46499563	202751058	3	39876											
PIK3R3	8503	broad.mit.edu	37	chr1	46597617	46597618	+	Frame_Shift_Ins	INS	-	-	TGTA																															gtccatactccacaccgtatINStgtacatcgcgctgtcaggg																										TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:46597617_46597618insTGTA	ENST00000262741.5	-	1	696_697	c.7_8insTACA	c.(7-9)aatfs	p.N3fs	PIK3R3_ENST00000540385.1_Intron|PIK3R3_ENST00000423209.1_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000372006.1_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000420542.1_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000340332.6_Frame_Shift_Ins_p.N3fs|PIK3R3_ENST00000354242.4_Frame_Shift_Ins_p.N3fs	NM_003629.3	NP_003620.3	Q92569	P55G_HUMAN	phosphoinositide-3-kinase, regulatory subunit 3 (gamma)	3					insulin receptor signaling pathway|platelet activation|T cell costimulation		1-phosphatidylinositol-3-kinase activity|protein binding			endometrium(1)|large_intestine(5)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(166;0.155)					CCACACCGTATTGTACATCGCG	0.411													TGTA	46597618	-	TGTA	46597617	7	5	382	1	0	1	1	0	0	0	0	0	11997	1493	52	0	1417	0	PIK3R3	1	46597617	Frame_Shift_Ins	INS	-	TCGA-DU-7006-01A-11D-2024-08	98054	46597617	202653004	4	39877											
CACNA1E	777	broad.mit.edu	37	chr1	181708361	181708361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctggactttgtggtggtcGttggcgcattggtggccttt	2	16	15	8	2	0	0	0	0	0	0	2	1	1	1	2	6	0	2	2	6	0	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:181708361G>A	ENST00000526775.1	+	24	3799	c.3634G>A	c.(3634-3636)Gtt>Att	p.V1212I	CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1212I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1182I|CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1163I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V838I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1231I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1231I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1231					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TGTGGTGGTCGTTGGCGCATT	0.502													A	181708361	G	A	181708361	3	1	382	1	0	0	0	0	1	0	0	0	2568	1145	40	1	3789	1	CACNA1E	1	181708361	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	135110744	181708361	67542260	5	39878											
KCNT2	343450	broad.mit.edu	37	chr1	196197431	196197431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgactgggctcactgtttgGaaggtaggccagtggatctg	7	11	15	8	1	2	0	1	0	1	0	3	3	2	2	1	5	0	3	1	5	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr1:196197431G>A	ENST00000367433.5	-	27	3360	c.3259C>T	c.(3259-3261)Cca>Tca	p.P1087S	KCNT2_ENST00000367431.4_Missense_Mutation_p.P1045S|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000294725.9_Missense_Mutation_p.P1111S|KCNT2_ENST00000609185.1_Missense_Mutation_p.P1044S|KCNT2_ENST00000498426.1_5'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1111						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TCACTGTTTGGAAGGTAGGCC	0.353													A	196197431	G	A	196197431	3	1	382	1	0	0	0	0	1	0	0	0	8150	1174	41	2	80	2	KCNT2	1	196197431	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	14489070	196197431	53053190	6	39879											
HEATR5B	54497	broad.mit.edu	37	chr2	37217840	37217840	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaatctgttcatgcagccaTtctgtaatgactggactcct	10	14	7	10	0	3	1	1	1	2	0	4	2	4	2	2	1	2	3	2	1	3	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:37217840T>C	ENST00000233099.5	-	34	5743	c.5648A>G	c.(5647-5649)aAt>aGt	p.N1883S	HEATR5B_ENST00000354531.2_Missense_Mutation_p.N1794S	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1883							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGCAGCCATTCTGTAATGA	0.388													C	37217840	T	C	37217840	3	2	382	1	0	0	0	0	1	0	0	0	7087	1493	52	3	579	3	HEATR5B	2	37217840	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08		37217840	205981533	7	39880											
DFNB59	494513	broad.mit.edu	37	chr2	179319235	179319235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggaagtatcaacattaCtcaaagaaattactacacgg	18	9	7	7	1	2	1	2	0	0	1	2	2	2	2	0	2	4	1	0	2	9	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:179319235C>T	ENST00000409117.3	+	3	744	c.388C>T	c.(388-390)Ctc>Ttc	p.L130F	DFNB59_ENST00000375129.4_Missense_Mutation_p.L130F	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	130					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			ATCAACATTACTCAAAGAAAT	0.308													T	179319235	C	T	179319235	3	4	382	1	0	0	0	0	1	0	0	0	4495	565	20	2	394	2	DFNB59	2	179319235	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	142101395	179319235	63880138	8	39881											
CTLA4	1493	broad.mit.edu	37	chr2	204732687	204732687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcttgccttggatttcagCggcacaaggctcagctgaac	8	10	12	11	1	2	1	2	1	0	0	2	2	2	2	1	4	4	4	1	4	2	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr2:204732687C>T	ENST00000302823.3	+	1	179	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W	CTLA4_ENST00000295854.6_Missense_Mutation_p.R8W|CTLA4_ENST00000487393.1_3'UTR|CTLA4_ENST00000472206.1_Missense_Mutation_p.R8W	NM_005214.4	NP_005205.2	P16410	CTLA4_HUMAN	cytotoxic T-lymphocyte-associated protein 4	8					B cell receptor signaling pathway|immune response|negative regulation of B cell proliferation|negative regulation of regulatory T cell differentiation|positive regulation of apoptosis|response to DNA damage stimulus|T cell costimulation	clathrin-coated endocytic vesicle|external side of plasma membrane|Golgi apparatus|integral to plasma membrane|perinuclear region of cytoplasm				large_intestine(4)|lung(4)|skin(1)	9					Abatacept(DB01281)	TGGATTTCAGCGGCACAAGGC	0.498													T	204732687	C	T	204732687	3	4	382	1	0	0	0	0	1	0	0	0	4044	759	27	1	24	1	CTLA4	2	204732687	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	25413452	204732687	38466686	9	39882											
PPARG	5468	broad.mit.edu	37	chr3	12421382	12421382	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccattcacaagaacagatCcagtggttgcagattacaag	14	10	8	9	0	1	3	1	0	0	3	3	3	3	3	2	1	3	2	2	1	4	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:12421382C>G	ENST00000397026.2	+	4	579	c.196C>G	c.(196-198)Cca>Gca	p.P66A	PPARG_ENST00000539812.1_Missense_Mutation_p.P58A|PPARG_ENST00000397015.2_Missense_Mutation_p.P60A|PPARG_ENST00000397012.2_Missense_Mutation_p.P60A|PPARG_ENST00000397000.1_Missense_Mutation_p.P60A|PPARG_ENST00000287820.6_Missense_Mutation_p.P88A|PPARG_ENST00000397010.2_Missense_Mutation_p.P60A|PPARG_ENST00000309576.6_Missense_Mutation_p.P60A			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	88					activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	AAGAACAGATCCAGTGGTTGC	0.398			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						G	12421382	C	G	12421382	3	3	382	1	0	0	0	0	1	0	0	0	12376	855	30	4	268	4	PPARG	3	12421382	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		12421382	185601048	10	39883											
NEK10	152110	broad.mit.edu	37	chr3	27352499	27352499	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgactgcagcaagtttttGaaaaatatctataaaggaaa	17	13	7	4	0	1	2	0	2	1	0	1	3	1	3	0	1	2	3	0	1	8	6			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:27352499G>A	ENST00000429845.2	-	10	939	c.577C>T	c.(577-579)Caa>Taa	p.Q193*	NEK10_ENST00000341435.5_Nonsense_Mutation_p.Q193*			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	193							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						GCAAGTTTTTGAAAAATATCT	0.468													A	27352499	G	A	27352499	4	1	382	1	0	0	0	0	0	1	0	0	10398	1299	45	2	1625	2	NEK10	3	27352499	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	14931117	27352499	170669931	11	39884											
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaatcactgagcAggagaaagattttctatgga	13	12	9	7	0	4	4	1	2	3	2	5	6	4	5	0	2	1	1	0	2	3	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:178936095A>C	ENST00000263967.3	+	10	1794	c.1637A>C	c.(1636-1638)cAg>cCg	p.Q546P		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178936095	A	C	178936095	3	2	382	1	0	0	0	0	1	0	0	0	11990	188	7	5	1671	5	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	151583596	178936095	19086335	12	39885											
EIF4G1	1981	broad.mit.edu	37	chr3	184043126	184043126	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacgtcatcccgcatcCgctttatgctgcaggacgtg	9	9	11	12	4	1	2	1	0	0	2	3	3	3	3	2	1	2	4	2	1	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:184043126C>T	ENST00000342981.4	+	18	3343	c.2929C>T	c.(2929-2931)Cgc>Tgc	p.R977C	EIF4G1_ENST00000435046.2_Missense_Mutation_p.R780C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R976C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R983C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R976C|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R781C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R983C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R937C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R889C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R813C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R812C|EIF4G1_ENST00000414031.1_Missense_Mutation_p.R936C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R983C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R890C	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	976	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			ATCCCGCATCCGCTTTATGCT	0.527													T	184043126	C	T	184043126	3	4	382	1	0	0	0	0	1	0	0	0	5077	652	23	1	2992	1	EIF4G1	3	184043126	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	5107031	184043126	13979304	13	39886											
ATP13A3	79572	broad.mit.edu	37	chr3	194181443	194181443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctctgacacaggtcgCtttcacccgccactcaggca	8	8	9	16	2	3	1	2	1	1	0	4	1	3	1	2	2	2	4	2	2	0	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr3:194181443C>T	ENST00000439040.1	-	4	960	c.169G>A	c.(169-171)Gcg>Acg	p.A57T	ATP13A3_ENST00000256031.4_Missense_Mutation_p.A57T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	57					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		ACACAGGTCGCTTTCACCCGC	0.448													T	194181443	C	T	194181443	3	4	382	1	0	0	0	0	1	0	0	0	1130	797	28	2	3631	2	ATP13A3	3	194181443	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10138317	194181443	3840987	14	39887											
MAEA	10296	broad.mit.edu	37	chr4	1316242	1316242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagaggcgtgagacggccaCctgcctggcctggtgccatg	6	6	17	12	2	0	2	0	1	0	2	0	4	0	2	5	5	2	0	5	5	0	0			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:1316242C>G	ENST00000303400.4	+	4	593	c.530C>G	c.(529-531)aCc>aGc	p.T177S	MAEA_ENST00000514708.1_Intron|MAEA_ENST00000264750.6_Intron|MAEA_ENST00000452175.2_Missense_Mutation_p.T98S|MAEA_ENST00000505839.1_Missense_Mutation_p.T129S|MAEA_ENST00000505177.2_Missense_Mutation_p.T177S|MAEA_ENST00000510794.1_Missense_Mutation_p.T176S	NM_001017405.1	NP_001017405.1	Q7L5Y9	MAEA_HUMAN	macrophage erythroblast attacher	177	CTLH.				cell adhesion|cell cycle|cell division|erythrocyte maturation|negative regulation of myeloid cell apoptosis|regulation of mitotic cell cycle	actomyosin contractile ring|integral to plasma membrane|membrane fraction|nuclear matrix|spindle	actin binding			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(23;0.0201)			GAGACGGCCACCTGCCTGGCC	0.617													G	1316242	C	G	1316242	3	3	382	1	0	0	0	0	1	0	0	0	9224	507	18	4	544	4	MAEA	4	1316242	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		1316242	189838034	15	39888											
KDR	3791	broad.mit.edu	37	chr4	55976872	55976872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcgcagggattctgacaCgctcccccaccgtggcttcc	6	9	9	17	3	1	1	0	1	1	0	4	2	3	2	4	2	0	3	4	2	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:55976872C>T	ENST00000263923.4	-	8	1335	c.1040G>A	c.(1039-1041)cGt>cAt	p.R347H		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	347	Ig-like C2-type 4.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R347H(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	GATTCTGACACGCTCCCCCAC	0.418			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			T	55976872	C	T	55976872	3	4	382	1	0	0	0	0	1	0	0	0	8197	536	19	1	3122	1	KDR	4	55976872	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	54660630	55976872	135177404	16	39889											
TRPC3	7222	broad.mit.edu	37	chr4	122853813	122853813	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacgcttgctggccgcGaagccagggtggttgaggat	7	8	18	8	3	0	2	0	2	0	1	0	5	0	3	2	4	2	3	2	4	1	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:122853813G>T	ENST00000264811.5	-	1	799	c.381C>A	c.(379-381)ttC>ttA	p.F127L	TRPC3_ENST00000513531.1_Missense_Mutation_p.F127L|TRPC3_ENST00000379645.3_Missense_Mutation_p.F200L	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	115					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						TGCTGGCCGCGAAGCCAGGGT	0.637													T	122853813	G	T	122853813	3	4	382	1	0	0	0	0	1	0	0	0	16680	1049	37	4	2209	4	TRPC3	4	122853813	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	66876941	122853813	68300463	17	39890											
RBM46	166863	broad.mit.edu	37	chr4	155719190	155719190	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttaataattatgaaattCgaccagggaagtttattggt	13	16	8	4	1	1	1	0	1	1	0	2	3	1	2	1	2	0	1	1	2	6	8			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr4:155719190C>T	ENST00000510397.1	+	3	558	c.379C>T	c.(379-381)Cga>Tga	p.R127*	RBM46_ENST00000514866.1_Nonsense_Mutation_p.R127*|RBM46_ENST00000281722.3_Nonsense_Mutation_p.R127*	NM_001277173.1	NP_001264102.1	Q8TBY0	RBM46_HUMAN	RNA binding motif protein 46	127	RRM 1.						nucleotide binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(7)|skin(3)|urinary_tract(2)	26	all_hematologic(180;0.24)	Renal(120;0.0854)				TTATGAAATTCGACCAGGGAA	0.338													T	155719190	C	T	155719190	4	4	382	1	0	0	0	0	0	1	0	0	13228	876	31	1	385	1	RBM46	4	155719190	Nonsense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	32865377	155719190	35435086	18	39891											
NPR3	4883	broad.mit.edu	37	chr5	32712556	32712556	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtccacgaggtcttccAggaggagggtttgcacacgt	7	8	17	9	2	1	0	0	0	1	0	3	3	3	2	2	6	1	2	2	6	0	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:32712556A>T	ENST00000265074.8	+	1	1017	c.674A>T	c.(673-675)cAg>cTg	p.Q225L	NPR3_ENST00000415685.2_Intron|NPR3_ENST00000415167.2_Missense_Mutation_p.Q225L|NPR3_ENST00000434067.2_Intron	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	225					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGGTCTTCCAGGAGGAGGGT	0.582													T	32712556	A	T	32712556	3	4	382	1	0	0	0	0	1	0	0	0	10672	188	7	5	676	5	NPR3	5	32712556	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08		32712556	148202704	19	39892											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	6	8	12	15	3	0	0	0	0	0	0	1	1	1	1	3	3	6	4	3	3	3	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													A	60241050	G	A	60241050	1	1	382	1	0	0	0	0	0	0	0	0	10351	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08	27528494	60241050	120674210	20	39893											
SLCO4C1	353189	broad.mit.edu	37	chr5	101583042	101583042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaggaatatgggcagtttCgcacaatgagtttcacattt	13	12	9	7	1	1	1	1	1	0	0	2	2	1	2	0	2	0	4	0	2	4	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:101583042C>T	ENST00000310954.6	-	10	2011	c.1725G>A	c.(1723-1725)gcG>gcA	p.A575A		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	575					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TGGGCAGTTTCGCACAATGAG	0.353													T	101583042	C	T	101583042	2	4	382	1	0	0	0	0	0	0	0	1	14824	871	31	1		1	SLCO4C1	5	101583042	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	41341992	101583042	79332218	21	39894											
MEGF10	84466	broad.mit.edu	37	chr5	126790302	126790302	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatgggaaaatccttaaaaGgtatcatgtaaatttgaaga	18	12	8	3	0	1	2	1	1	0	1	2	3	2	3	1	2	0	2	1	2	9	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:126790302G>A	ENST00000274473.6	+	24	3292	c.3025G>A	c.(3025-3027)Gac>Aac	p.D1009N	MEGF10_ENST00000503335.2_Splice_Site_p.D1009N|MEGF10_ENST00000510828.1_3'UTR	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	1009	Necessary for formation of large intracellular vacuoles.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		ATCCTTAAAAGGTATCATGTA	0.323													A	126790302	G	A	126790302	5	1	382	1	0	0	0	0	0	0	1	0	9535	1014	35	2	3111	2	MEGF10	5	126790302	Splice_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08	25207260	126790302	54124958	22	39895											
PCDHGA5	56110	broad.mit.edu	37	chr5	140746124	140746124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgcactttgtgggcGtggatggggttcgggctttc	2	12	16	11	4	0	0	0	0	0	0	3	1	0	1	2	5	0	3	2	5	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr5:140746124G>A	ENST00000518069.1	+	1	2227	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTTGTGGGCGTGGATGGGGT	0.632													A	140746124	G	A	140746124	3	1	382	1	0	0	0	0	1	0	0	0	11633	1145	40	1	2229	1	PCDHGA5	5	140746124	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	13955822	140746124	40169136	23	39896											
PAK1IP1	55003	broad.mit.edu	37	chr6	10707679	10707679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttcagttttgaaattccaGagcatcatgttattgtttca	10	18	7	6	0	3	2	3	1	0	1	4	2	4	2	1	0	1	5	1	0	2	7			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:10707679G>A	ENST00000379568.3	+	8	1063	c.772G>A	c.(772-774)Gag>Aag	p.E258K		NM_017906.2	NP_060376.2	Q9NWT1	PK1IP_HUMAN	PAK1 interacting protein 1	258					negative regulation of signal transduction	nucleolus|plasma membrane		p.E258Q(1)		kidney(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.117)				TGAAATTCCAGAGCATCATGT	0.328													A	10707679	G	A	10707679	3	1	382	1	0	0	0	0	1	0	0	0	11476	943	33	2	802	2	PAK1IP1	6	10707679	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		10707679	160407388	24	39897											
GPRC6A	222545	broad.mit.edu	37	chr6	117130650	117130650	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcagagtggctgccattgCcactgtgacttctgtacaag	8	11	10	12	0	2	2	1	1	1	1	2	2	2	2	3	1	3	2	3	1	2	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr6:117130650C>T	ENST00000310357.3	-	2	346	c.325G>A	c.(325-327)Gca>Aca	p.A109T	GPRC6A_ENST00000530250.1_Missense_Mutation_p.A109T|GPRC6A_ENST00000368549.3_Missense_Mutation_p.A109T	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	109					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCTGCCATTGCCACTGTGACT	0.428													T	117130650	C	T	117130650	3	4	382	1	0	0	0	0	1	0	0	0	6783	739	26	2	2475	2	GPRC6A	6	117130650	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	106422971	117130650	53984417	25	39898											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	10	8	8	15	3	2	1	0	0	2	1	5	3	4	1	5	1	2	1	5	1	3	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:55221711G>C	ENST00000275493.2	+	7	932	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P|EGFR_ENST00000420316.2_Missense_Mutation_p.R252P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55221711	G	C	55221711	3	2	382	1	0	0	0	0	1	0	0	0	5006	1087	38	4	781	4	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		55221711	103916952	26	39899											
PON1	5444	broad.mit.edu	37	chr7	94947701	94947701	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcggagagcattaagtcGtgttctgtgggggagaaaga	10	10	15	6	2	2	3	0	0	2	3	4	5	2	3	0	3	1	2	0	3	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:94947701G>A	ENST00000222381.3	-	2	310	c.79C>T	c.(79-81)Cga>Tga	p.R27*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	27					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	p.R27*(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GCATTAAGTCGTGTTCTGTGG	0.388													A	94947701	G	A	94947701	4	1	382	1	0	0	0	0	0	1	0	0	12325	1153	40	1	1020	1	PON1	7	94947701	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	39725990	94947701	64190962	27	39900											
NOS3	4846	broad.mit.edu	37	chr7	150704320	150704320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcgacgagctgtgcGgccaggaggaggccttccga	7	4	18	12	4	0	0	0	0	0	0	1	5	1	2	4	5	2	1	4	5	0	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr7:150704320G>A	ENST00000297494.3	+	17	2425	c.2068G>A	c.(2068-2070)Ggc>Agc	p.G690S	NOS3_ENST00000461406.1_Missense_Mutation_p.G484S	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	690	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGAGCTGTGCGGCCAGGAGGA	0.706													A	150704320	G	A	150704320	3	1	382	1	0	0	0	0	1	0	0	0	10620	1116	39	1	2412	1	NOS3	7	150704320	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	55756619	150704320	8434343	28	39901											
FAM135B	51059	broad.mit.edu	37	chr8	139149434	139149434	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttacacatttcaatcctgGctgaatgaaatggcacataa	14	13	6	8	0	1	2	1	2	0	0	2	2	2	2	1	2	1	2	1	2	5	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:139149434G>T	ENST00000395297.1	-	19	4141	c.3971C>A	c.(3970-3972)gCc>gAc	p.A1324D		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1324										NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			TTCAATCCTGGCTGAATGAAA	0.388										HNSCC(54;0.14)			T	139149434	G	T	139149434	3	4	382	1	0	0	0	0	1	0	0	0	5494	1203	42	4	257	4	FAM135B	8	139149434	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		139149434	7214588	29	39902											
TSNARE1	203062	broad.mit.edu	37	chr8	143427185	143427185	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccccacacagcggttctGcagcttgctctctggcgacg	5	10	10	16	3	2	0	0	0	2	0	4	1	3	0	2	2	4	4	2	2	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr8:143427185G>A	ENST00000524325.1	-	3	332	c.157C>T	c.(157-159)Cag>Tag	p.Q53*	TSNARE1_ENST00000307180.3_Nonsense_Mutation_p.Q53*|TSNARE1_ENST00000520166.1_Nonsense_Mutation_p.Q53*|TSNARE1_ENST00000519651.1_Intron			Q96NA8	TSNA1_HUMAN	t-SNARE domain containing 1	53					vesicle-mediated transport	integral to membrane				breast(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(6)|ovary(2)|stomach(2)|urinary_tract(1)	20	all_cancers(97;7.39e-11)|all_epithelial(106;8.98e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000332)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CAGCGGTTCTGCAGCTTGCTC	0.597													A	143427185	G	A	143427185	4	1	382	1	0	0	0	0	0	1	0	0	16731	1328	46	2	1428	2	TSNARE1	8	143427185	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	4277751	143427185	2936837	30	39903											
FBP2	8789	broad.mit.edu	37	chr9	97355890	97355890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagatggctttgatggccGtcagcattgagttcagcagc	9	10	14	8	1	2	3	2	2	0	1	2	4	2	3	1	3	3	4	1	3	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:97355890G>A	ENST00000375337.3	-	1	185	c.119C>T	c.(118-120)aCg>aTg	p.T40M		NM_003837.2	NP_003828.2	O00757	F16P2_HUMAN	fructose-1,6-bisphosphatase 2	40					fructose metabolic process|gluconeogenesis	cytosol	fructose 1,6-bisphosphate 1-phosphatase activity|fructose-2,6-bisphosphate 2-phosphatase activity|metal ion binding			endometrium(1)|large_intestine(3)|lung(5)	9		Acute lymphoblastic leukemia(62;0.136)				TTTGATGGCCGTCAGCATTGA	0.632													A	97355890	G	A	97355890	3	1	382	1	0	0	0	0	1	0	0	0	5755	1145	40	1	928	1	FBP2	9	97355890	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		97355890	43857541	31	39904											
SEC16A	9919	broad.mit.edu	37	chr9	139354230	139354230	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagagtgtcgcccatggtagCcatcgtcctggactcgacgt	7	9	12	13	4	0	1	0	0	0	1	4	3	1	2	3	2	1	1	3	2	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr9:139354230C>G	ENST00000313050.7	-	13	5243	c.5170G>C	c.(5170-5172)Gct>Cct	p.A1724P	SEC16A_ENST00000290037.6_Missense_Mutation_p.A1546P|SEC16A_ENST00000431893.2_Missense_Mutation_p.A1546P|SEC16A_ENST00000371706.3_Missense_Mutation_p.A1546P	NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1546					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCATGGTAGCCATCGTCCTG	0.587													G	139354230	C	G	139354230	3	3	382	1	0	0	0	0	1	0	0	0	14079	739	26	4	1975	4	SEC16A	9	139354230	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	41998340	139354230	1859201	32	39905											
SLC22A25	387601	broad.mit.edu	37	chr11	62931428	62931429	+	Frame_Shift_Del	DEL	AA	AA	-																															acaaggccagagaggatggcAaagactccatagatgatcca																										TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:62931428_62931429delAA	ENST00000306494.6	-	9	1510_1511	c.1511_1512delTT	c.(1510-1512)tttfs	p.F504fs	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	504					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						AGAGGATGGCAAAGACTCCATA	0.495													-	62931429	AA	-	62931428	7	5	382	1	0	1	0	1	0	0	0	0	14548	127	5	0	135	0	SLC22A25	11	62931428	Frame_Shift_Del	DEL	AA	TCGA-DU-7006-01A-11D-2024-08		62931428	72075088	33	39906											
MMP20	9313	broad.mit.edu	37	chr11	102477309	102477309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccccagcattgtcacagCgtcaaaggatgagctggagt	10	9	11	11	1	2	1	2	1	0	0	3	3	3	3	2	2	3	2	2	2	1	2	rs148818720	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:102477309C>T	ENST00000260228.2	-	6	922	c.910G>A	c.(910-912)Gct>Act	p.A304T	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	304	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		ATTGTCACAGCGTCAAAGGAT	0.577													T	102477309	C	T	102477309	3	4	382	1	0	0	0	0	1	0	0	0	9734	768	27	1	561	1	MMP20	11	102477309	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	39545881	102477309	32529207	34	39907											
ROBO4	54538	broad.mit.edu	37	chr11	124756934	124756934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctcctcaggggtcagcaCgctgtcttgatcctccccca	6	10	8	17	1	3	1	2	1	1	0	6	1	6	1	5	2	2	2	5	2	1	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:124756934C>T	ENST00000306534.3	-	15	2859	c.2374G>A	c.(2374-2376)Gtg>Atg	p.V792M	RP11-664I21.5_ENST00000524453.1_RNA|ROBO4_ENST00000533054.1_Missense_Mutation_p.V647M	NM_019055.5	NP_061928.4	Q8WZ75	ROBO4_HUMAN	roundabout, axon guidance receptor, homolog 4 (Drosophila)	792					angiogenesis|cell differentiation	integral to membrane	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(42)|ovary(1)|prostate(4)|skin(5)|urinary_tract(3)	76	all_hematologic(175;0.215)	Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|Breast(109;0.171)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0301)		GGGGTCAGCACGCTGTCTTGA	0.592													T	124756934	C	T	124756934	3	4	382	1	0	0	0	0	1	0	0	0	13607	536	19	1	665	1	ROBO4	11	124756934	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	22279625	124756934	10249582	35	39908											
GLB1L3	112937	broad.mit.edu	37	chr11	134158762	134158762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattcaataaggataaaaCatacatgccgtatctccaca	16	10	4	11	1	3	0	2	0	1	0	4	1	3	1	2	1	3	1	2	1	6	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr11:134158762C>A	ENST00000389887.5	+	7	3203	c.707C>A	c.(706-708)aCa>aAa	p.T236K	GLB1L3_ENST00000431683.2_Missense_Mutation_p.T236K			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	236					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		AAGGATAAAACATACATGCCG	0.498													A	134158762	C	A	134158762	3	1	382	1	0	0	0	0	1	0	0	0	6486	478	17	4	733	4	GLB1L3	11	134158762	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	9401828	134158762	847754	36	39909											
PZP	5858	broad.mit.edu	37	chr12	9304243	9304243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgttgctcacttctgtcCggctcacagagctagatctt	6	14	10	11	1	4	2	2	0	2	2	5	2	5	2	1	2	2	5	1	2	1	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr12:9304243C>T	ENST00000261336.2	-	33	4266	c.4238G>A	c.(4237-4239)cGg>cAg	p.R1413Q	PZP_ENST00000381997.2_Missense_Mutation_p.R1199Q	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						CACTTCTGTCCGGCTCACAGA	0.443													T	9304243	C	T	9304243	3	4	382	1	0	0	0	0	1	0	0	0	12957	652	23	1	226	1	PZP	12	9304243	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		9304243	124547652	37	39910											
SACS	26278	broad.mit.edu	37	chr13	23907744	23907744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtagcatgttccaaattttCcaatgcttacatagcggcca	11	12	7	11	2	0	0	0	0	0	0	2	0	2	0	3	1	4	4	3	1	5	6			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr13:23907744C>T	ENST00000382298.3	-	10	10859	c.10271G>A	c.(10270-10272)gGa>gAa	p.G3424E	SACS_ENST00000402364.1_Missense_Mutation_p.G2674E|SACS_ENST00000382292.3_Missense_Mutation_p.G3424E	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3424					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TCCAAATTTTCCAATGCTTAC	0.358													T	23907744	C	T	23907744	3	4	382	1	0	0	0	0	1	0	0	0	13895	855	30	2	3472	2	SACS	13	23907744	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		23907744	91262134	38	39911											
OR4N2	390429	broad.mit.edu	37	chr14	20296476	20296476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgtcatttatacccttcGcaaccaggaagtgaaagctt	11	12	7	11	1	1	1	1	1	0	0	3	2	2	2	3	1	3	2	3	1	5	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:20296476G>A	ENST00000315947.1	+	1	869	c.869G>A	c.(868-870)cGc>cAc	p.R290H	OR4N2_ENST00000568211.1_3'UTR	NM_001004723.1	NP_001004723.1	Q8NGD1	OR4N2_HUMAN	olfactory receptor, family 4, subfamily N, member 2	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(32)|ovary(2)|prostate(1)|skin(2)|stomach(2)	52	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TATACCCTTCGCAACCAGGAA	0.403													A	20296476	G	A	20296476	3	1	382	1	0	0	0	0	1	0	0	0	11153	1087	38	1	871	1	OR4N2	14	20296476	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		20296476	87053064	39	39912											
RPL10L	140801	broad.mit.edu	37	chr14	47120456	47120456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatatgaatcttctggcGtccagggaacttgaacttgg	10	11	13	7	1	2	3	0	2	2	1	3	5	3	4	1	4	2	0	1	4	4	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:47120456G>A	ENST00000298283.3	-	1	572	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C		NM_080746.2	NP_542784.1	Q96L21	RL10L_HUMAN	ribosomal protein L10-like	162					spermatogenesis|translation	cytosolic large ribosomal subunit|nucleus	structural constituent of ribosome	p.R162S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(20)|ovary(1)	27						ATCTTCTGGCGTCCAGGGAAC	0.502													A	47120456	G	A	47120456	3	1	382	1	0	0	0	0	1	0	0	0	13647	1145	40	1	164	1	RPL10L	14	47120456	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	26823980	47120456	60229084	40	39913											
BMP4	652	broad.mit.edu	37	chr14	54417301	54417301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagtttggctgcttctcccGggtccagcgaaggaccgcag	7	9	13	12	3	1	0	0	0	1	0	3	2	2	1	3	3	2	4	3	3	2	3	rs140590144	byFrequency	TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:54417301G>A	ENST00000245451.4	-	4	1069	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	BMP4_ENST00000559087.1_Missense_Mutation_p.R226W|BMP4_ENST00000558984.1_Missense_Mutation_p.R226W|BMP4_ENST00000417573.1_Missense_Mutation_p.R226W	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	226			R -> W.		activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						TGCTTCTCCCGGGTCCAGCGA	0.572													A	54417301	G	A	54417301	3	1	382	1	0	0	0	0	1	0	0	0	1468	1115	39	1	554	1	BMP4	14	54417301	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	7296845	54417301	52932239	41	39914											
NEK9	91754	broad.mit.edu	37	chr14	75574067	75574067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcacacagacagtgaaatCatcaccacatgacacctgac	16	6	6	13	0	3	4	3	3	0	1	3	4	3	4	2	0	0	0	2	0	1	0			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574067C>T	ENST00000238616.5	-	11	1464	c.1306G>A	c.(1306-1308)Gat>Aat	p.D436N		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	436					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		ACAGTGAAATCATCACCACAT	0.468													T	75574067	C	T	75574067	3	4	382	1	0	0	0	0	1	0	0	0	10407	826	29	2	1681	2	NEK9	14	75574067	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	21156766	75574067	31775473	42	39915											
NEK9	91754	broad.mit.edu	37	chr14	75574125	75574125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttttccacatgctttggCtgtcgataggaggctttgtc	7	15	10	9	1	0	0	0	0	0	0	3	2	1	1	1	3	2	3	1	3	2	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:75574125C>T	ENST00000238616.5	-	11	1406	c.1248G>A	c.(1246-1248)caG>caA	p.Q416Q		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	416					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		CATGCTTTGGCTGTCGATAGG	0.453													T	75574125	C	T	75574125	2	4	382	1	0	0	0	0	0	0	0	1	10407	796	28	2		2	NEK9	14	75574125	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	58	75574125	31775415	43	39916											
AK7	122481	broad.mit.edu	37	chr14	96875258	96875258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacggtgatgacttgggcgCgctccaaagccctggacccc	7	6	13	15	4	0	2	0	2	0	0	1	4	1	3	4	3	1	1	4	3	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:96875258C>T	ENST00000267584.4	+	4	522	c.478C>T	c.(478-480)Cgc>Tgc	p.R160C	AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	160					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		GACTTGGGCGCGCTCCAAAGC	0.473													T	96875258	C	T	96875258	3	4	382	1	0	0	0	0	1	0	0	0	444	768	27	1	492	1	AK7	14	96875258	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	21301133	96875258	10474282	44	39917											
AHNAK2	113146	broad.mit.edu	37	chr14	105415522	105415522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcccttgatgtccacctggGggcccttgaggtccactttg	4	11	13	13	0	0	2	0	2	0	0	2	2	2	2	5	4	0	0	5	4	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr14:105415522G>A	ENST00000333244.5	-	7	6385	c.6266C>T	c.(6265-6267)cCc>cTc	p.P2089L	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2089						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCCACCTGGGGGCCCTTGAG	0.617													A	105415522	G	A	105415522	3	1	382	1	0	0	0	0	1	0	0	0	415	1232	43	2	11125	2	AHNAK2	14	105415522	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	8540264	105415522	1934018	45	39918											
FBN1	2200	broad.mit.edu	37	chr15	48902974	48902974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagatgggcaagtgcaCatatttggcctcgaacaaaa	14	8	10	9	1	0	2	0	1	0	1	1	3	0	2	2	2	2	2	2	2	5	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:48902974C>T	ENST00000316623.5	-	4	752	c.297G>A	c.(295-297)atG>atA	p.M99I		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	99	EGF-like 1.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		GGCAAGTGCACATATTTGGCC	0.428													T	48902974	C	T	48902974	3	4	382	1	0	0	0	0	1	0	0	0	5751	478	17	2	8570	2	FBN1	15	48902974	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08		48902974	53628418	46	39919											
ALPK3	57538	broad.mit.edu	37	chr15	85383197	85383197	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaaagcggcgattgagcggGgctcaagcgccgggcccctc	7	4	16	14	6	1	1	1	1	0	0	2	3	1	1	3	4	3	1	3	4	2	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:85383197G>A	ENST00000258888.5	+	5	1460	c.1293G>A	c.(1291-1293)ggG>ggA	p.G431G		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	431					heart development	nucleus	ATP binding|protein serine/threonine kinase activity	p.G431G(2)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			GATTGAGCGGGGCTCAAGCGC	0.672													A	85383197	G	A	85383197	2	1	382	1	0	0	0	0	0	0	0	1	546	1219	43	2		2	ALPK3	15	85383197	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	36480223	85383197	17148195	47	39920											
ST8SIA2	8128	broad.mit.edu	37	chr15	92973307	92973307	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcagaggtacaatcagaTcagctgtgaacagcttacat	14	8	11	8	0	2	3	2	1	0	2	2	4	2	3	0	2	5	4	0	2	4	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr15:92973307T>G	ENST00000268164.3	+	2	364	c.127T>G	c.(127-129)Tca>Gca	p.S43A	ST8SIA2_ENST00000539113.1_Intron	NM_006011.3	NP_006002.1	Q92186	SIA8B_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2	43					axon guidance|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(2)|large_intestine(6)|lung(9)|skin(2)|urinary_tract(1)	20	Lung NSC(78;0.0893)|all_lung(78;0.125)		BRCA - Breast invasive adenocarcinoma(143;0.0355)|OV - Ovarian serous cystadenocarcinoma(32;0.203)			TACAATCAGATCAGCTGTGAA	0.388													G	92973307	T	G	92973307	3	3	382	1	0	0	0	0	1	0	0	0	15328	1435	50	5	133	5	ST8SIA2	15	92973307	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08	7590110	92973307	9558085	48	39921											
PKD1L2	114780	broad.mit.edu	37	chr16	81157276	81157276	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagcgctggtctctagcGtcagcgtgacaatgcagaac	10	7	12	12	3	2	3	1	1	1	2	3	3	2	3	1	1	5	2	1	1	3	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr16:81157276G>A	ENST00000533478.1	-	0	4518				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GGTCTCTAGCGTCAGCGTGAC	0.592													A	81157276	G	A	81157276	1	1	382	0	1	0	0	0	0	0	0	0	12042	1145	40	1		1	PKD1L2	16	81157276	RNA	SNP	G	TCGA-DU-7006-01A-11D-2024-08		81157276	9197477	49	39922											
KCNJ12	3768	broad.mit.edu	37	chr17	21319552	21319552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgagatcgtggtcatcctgGaaggcatggtggaggccaca	9	9	15	8	1	1	1	1	1	0	1	3	4	2	3	2	6	0	1	2	6	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:21319552G>A	ENST00000583088.1	+	3	1793	c.898G>A	c.(898-900)Gaa>Aaa	p.E300K	KCNJ12_ENST00000331718.5_Missense_Mutation_p.E300K	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGTCATCCTGGAAGGCATGGT	0.617										Prostate(3;0.18)			A	21319552	G	A	21319552	3	1	382	1	0	0	0	0	1	0	0	0	8104	1175	41	2	900	2	KCNJ12	17	21319552	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		21319552	59875658	50	39923											
NF1	4763	broad.mit.edu	37	chr17	29654857	29654857	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgacccgagtttacGgtaggttttttaaaattctc	9	16	8	8	2	2	1	0	1	2	0	3	2	2	1	1	2	1	4	1	2	4	8			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:29654857G>A	ENST00000358273.4	+	38	5992	c.5609G>A	c.(5608-5610)cGg>cAg	p.R1870Q	NF1_ENST00000581113.2_3'UTR|NF1_ENST00000356175.3_Splice_Site_p.R1849Q	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1870					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.S1871fs*13(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCGAGTTTACGGTAGGTTTTT	0.378			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29654857	G	A	29654857	5	1	382	1	0	0	0	0	0	0	1	0	10432	1130	39	1	5820	1	NF1	17	29654857	Splice_Site	SNP	G	TCGA-DU-7006-01A-11D-2024-08	8335305	29654857	51540353	51	39924											
CLTC	1213	broad.mit.edu	37	chr17	57746287	57746287	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacgatcctgagcgagtcAagaattttcttaaggtaagt	12	12	10	7	2	2	2	1	1	1	1	3	4	3	2	1	1	2	2	1	1	5	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr17:57746287A>C	ENST00000269122.3	+	14	2552	c.2278A>C	c.(2278-2280)Aag>Cag	p.K760Q	CLTC_ENST00000579456.1_Intron|CLTC_ENST00000393043.1_Missense_Mutation_p.K760Q	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	760	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					TGAGCGAGTCAAGAATTTTCT	0.373			T	"ALK, TFE3"	"ALCL, renal "								C	57746287	A	C	57746287	3	2	382	1	0	0	0	0	1	0	0	0	3597	131	5	5	2332	5	CLTC	17	57746287	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	28091430	57746287	23448923	52	39925											
GATA6	2627	broad.mit.edu	37	chr18	19751547	19751547	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgagcagccggaggagatgTaccagaccctcgccgctctc	8	5	12	16	4	1	2	0	0	1	2	3	5	1	3	5	2	3	3	5	2	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr18:19751547T>A	ENST00000269216.3	+	2	719	c.442T>A	c.(442-444)Tac>Aac	p.Y148N	GATA6_ENST00000581694.1_Missense_Mutation_p.Y148N	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	148					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GGAGGAGATGTACCAGACCCT	0.736													A	19751547	T	A	19751547	3	1	382	1	0	0	0	0	1	0	0	0	6312	1638	57	5	444	5	GATA6	18	19751547	Missense_Mutation	SNP	T	TCGA-DU-7006-01A-11D-2024-08		19751547	58325701	53	39926											
ATCAY	85300	broad.mit.edu	37	chr19	3907776	3907776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacatgcccggggacagcGcggatctatttggggacggc	9	6	16	10	4	1	1	0	0	1	1	1	4	1	4	1	6	3	0	1	6	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:3907776G>A	ENST00000450849.2	+	5	870	c.403G>A	c.(403-405)Gcg>Acg	p.A135T	ATCAY_ENST00000398448.3_Missense_Mutation_p.A141T|ATCAY_ENST00000301260.6_Missense_Mutation_p.A135T|ATCAY_ENST00000600960.1_Missense_Mutation_p.A135T	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	135					transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		CGGGGACAGCGCGGATCTATT	0.657													A	3907776	G	A	3907776	3	1	382	1	0	0	0	0	1	0	0	0	1082	1087	38	1	417	1	ATCAY	19	3907776	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		3907776	55221207	54	39927											
FBN3	84467	broad.mit.edu	37	chr19	8152978	8152978	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggccaggctcaaagccGtcagcacaggcacattcgaa	13	5	11	12	2	2	1	2	1	0	0	3	2	2	1	2	3	2	3	2	3	2	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:8152978G>A	ENST00000600128.1	-	52	6876	c.6462C>T	c.(6460-6462)gaC>gaT	p.D2154D	FBN3_ENST00000601739.1_Silent_p.D2154D|FBN3_ENST00000270509.2_Silent_p.D2154D			Q75N90	FBN3_HUMAN	fibrillin 3	2154	EGF-like 34; 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						GCTCAAAGCCGTCAGCACAGG	0.617													A	8152978	G	A	8152978	2	1	382	1	0	0	0	0	0	0	0	1	5753	1136	40	1		1	FBN3	19	8152978	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	4245202	8152978	50976005	55	39928											
ZNF491	126069	broad.mit.edu	37	chr19	11917410	11917410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacacacaggagagaagccGtacaaatgtaaggaatgtgg	17	5	12	7	1	0	1	0	0	0	1	0	4	0	3	1	3	2	2	1	3	5	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:11917410G>A	ENST00000323169.5	+	3	973	c.642G>A	c.(640-642)ccG>ccA	p.P214P	ZNF491_ENST00000492230.1_Intron	NM_152356.3	NP_689569.2	Q8N8L2	ZN491_HUMAN	zinc finger protein 491	214					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P214P(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(14)|lung(6)|ovary(2)|skin(1)	26						GAGAGAAGCCGTACAAATGTA	0.423													A	11917410	G	A	11917410	2	1	382	1	0	0	0	0	0	0	0	1	18043	1132	40	1		1	ZNF491	19	11917410	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08	3764432	11917410	47211573	56	39929											
PSG2	5670	broad.mit.edu	37	chr19	43585278	43585278	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaccagatgtagccagtaAgattctggggcaaattgtgg	11	11	13	6	0	1	2	0	0	1	2	1	2	1	2	2	3	2	4	2	3	4	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:43585278A>T	ENST00000406487.1	-	2	283	c.185T>A	c.(184-186)cTt>cAt	p.L62H		NM_031246.3	NP_112536.2	P11465	PSG2_HUMAN	pregnancy specific beta-1-glycoprotein 2	62	Ig-like V-type.				cell migration|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(24)|ovary(1)|pancreas(2)|prostate(6)|stomach(2)|urinary_tract(2)	49		Prostate(69;0.00682)				GTAGCCAGTAAGATTCTGGGG	0.453													T	43585278	A	T	43585278	3	4	382	1	0	0	0	0	1	0	0	0	12740	72	3	5	838	5	PSG2	19	43585278	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	31667868	43585278	15543705	57	39930											
PRR12	57479	broad.mit.edu	37	chr19	50098329	50098329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacctcccaactcagttcaAcctgctggcttcctcttccg	6	11	5	19	1	3	0	2	0	1	0	6	0	6	0	6	1	3	3	6	1	2	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr19:50098329A>G	ENST00000418929.2	+	4	749	c.737A>G	c.(736-738)aAc>aGc	p.N246S		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	32	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACTCAGTTCAACCTGCTGGCT	0.697													G	50098329	A	G	50098329	3	3	382	1	0	0	0	0	1	0	0	0	12670	43	2	3	751	3	PRR12	19	50098329	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	6513051	50098329	9030654	58	39931											
C20orf194	25943	broad.mit.edu	37	chr20	3236735	3236735	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaaggtagcactcctgctGcccgctgctgtcttgagata	8	10	10	13	1	1	1	0	1	1	1	2	2	2	1	2	1	4	5	2	1	3	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:3236735G>A	ENST00000252032.9	-	34	3245	c.3178C>T	c.(3178-3180)Cag>Tag	p.Q1060*	C20orf194_ENST00000453730.2_3'UTR	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	1060										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CACTCCTGCTGCCCGCTGCTG	0.557													A	3236735	G	A	3236735	4	1	382	1	0	0	0	0	0	1	0	0	2120	1328	46	2	371	2	C20orf194	20	3236735	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		3236735	59788785	59	39932											
SEMG2	6407	broad.mit.edu	37	chr20	43851148	43851148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatcatacccgtcttcacGtacagaagaaagacaacttc	16	9	5	11	2	3	3	2	0	1	3	4	3	3	3	1	0	3	1	1	0	7	5	rs145586123		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr20:43851148G>A	ENST00000372769.3	+	2	965	c.875G>A	c.(874-876)cGt>cAt	p.R292H		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292H(1)|p.R292L(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCGTCTTCACGTACAGAAGAA	0.398													A	43851148	G	A	43851148	3	1	382	1	0	0	0	0	1	0	0	0	14138	1145	40	1	881	1	SEMG2	20	43851148	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	40614413	43851148	19174372	60	39933											
MCM3AP	8888	broad.mit.edu	37	chr21	47700424	47700424	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcacttattttcttcctGtgccaaaagatagccatgtc	11	14	5	11	0	2	1	1	0	1	1	4	1	3	1	3	0	3	0	3	0	5	5			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr21:47700424G>A	ENST00000397708.1	-	4	1763	c.1509C>T	c.(1507-1509)caC>caT	p.H503H	MCM3AP_ENST00000291688.1_Silent_p.H503H			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	503					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TTTTCTTCCTGTGCCAAAAGA	0.363													A	47700424	G	A	47700424	2	1	382	1	0	0	0	0	0	0	0	1	9463	1368	48	2		2	MCM3AP	21	47700424	Silent	SNP	G	TCGA-DU-7006-01A-11D-2024-08		47700424	429471	61	39934											
TMPRSS6	164656	broad.mit.edu	37	chr22	37462868	37462868	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catgcccgggggactcacctGacaggcatccttcttgccct	6	9	10	16	1	2	1	1	1	1	0	3	2	3	2	4	3	2	1	4	3	0	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:37462868G>A	ENST00000381792.2	-	18	2454	c.2314C>T	c.(2314-2316)Cag>Tag	p.Q772*	TMPRSS6_ENST00000406856.1_Nonsense_Mutation_p.Q772*|TMPRSS6_ENST00000346753.3_Nonsense_Mutation_p.Q759*|TMPRSS6_ENST00000406725.1_Nonsense_Mutation_p.Q750*			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	759	Peptidase S1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						GGACTCACCTGACAGGCATCC	0.617													A	37462868	G	A	37462868	4	1	382	1	0	0	0	0	0	1	0	0	16351	1299	45	2	168	2	TMPRSS6	22	37462868	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08		37462868	13841698	62	39935											
SBF1	6305	broad.mit.edu	37	chr22	50900448	50900448	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgcagaccttgtccacaaAgcggttgatgaagcggacca	11	7	12	11	3	0	3	0	2	0	1	1	4	1	4	3	2	3	2	3	2	2	2			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chr22:50900448A>T	ENST00000380817.3	-	20	2680	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I	SBF1_ENST00000390679.3_Missense_Mutation_p.F833I|SBF1_ENST00000348911.6_Missense_Mutation_p.F834I	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						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)		TTGTCCACAAAGCGGTTGATG	0.622													T	50900448	A	T	50900448	3	4	382	1	0	0	0	0	1	0	0	0	13950	72	3	5	3272	5	SBF1	22	50900448	Missense_Mutation	SNP	A	TCGA-DU-7006-01A-11D-2024-08	13437580	50900448	404118	63	39936											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	38079978	GCA	-	38079976	7	5	382	1	0	1	0	1	0	0	0	0	15260	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-DU-7006-01A-11D-2024-08		38079976	117190584	64	39937											
TBC1D25	4943	broad.mit.edu	37	chrX	48418954	48418954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cccagacccactgctctcctCcttttcccaccctgattccc	5	11	3	22	0	1	2	0	1	1	1	5	2	4	2	7	0	1	1	7	0	0	3			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:48418954C>G	ENST00000376771.4	+	6	1999	c.1658C>G	c.(1657-1659)tCc>tGc	p.S553C	TBC1D25_ENST00000537536.1_Missense_Mutation_p.S299C	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	553						intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						CTGCTCTCCTCCTTTTCCCAC	0.582													G	48418954	C	G	48418954	3	3	382	1	0	0	0	0	1	0	0	0	15712	855	30	4	1680	4	TBC1D25	23	48418954	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10338978	48418954	106851606	65	39938											
OGT	8473	broad.mit.edu	37	chrX	70784541	70784541	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttaccagaagatgccatcGtatactgtaactttaatcag	13	12	8	8	1	1	2	1	0	0	2	2	2	1	2	2	1	4	3	2	1	6	6			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:70784541G>T	ENST00000373719.3	+	19	2744	c.2527G>T	c.(2527-2529)Gta>Tta	p.V843L	OGT_ENST00000373701.3_Missense_Mutation_p.V833L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	843					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.V833I(1)|p.V843I(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					AGATGCCATCGTATACTGTAA	0.403													T	70784541	G	T	70784541	3	4	382	1	0	0	0	0	1	0	0	0	10923	1145	40	4	2601	4	OGT	23	70784541	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	22365587	70784541	84486019	66	39939											
FAM199X	139231	broad.mit.edu	37	chrX	103411604	103411604	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctggacatcagcgacttCggctgccagctgtcctcctg	5	10	11	15	2	1	0	1	0	0	0	4	2	3	1	4	2	4	2	4	2	0	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:103411604C>T	ENST00000493442.1	+	1	304	c.138C>T	c.(136-138)ttC>ttT	p.F46F		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	46								p.F46F(1)		breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						TCAGCGACTTCGGCTGCCAGC	0.657													T	103411604	C	T	103411604	2	4	382	1	0	0	0	0	0	0	0	1	5577	883	31	1		1	FAM199X	23	103411604	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	32627063	103411604	51858956	67	39940											
CT47B1	643311	broad.mit.edu	37	chrX	120009416	120009416	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgtcggggccggagtCgccgccctcctggttaccag	3	8	15	15	4	0	0	0	0	0	0	3	1	1	1	5	4	2	3	5	4	1	1			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:120009416C>A	ENST00000371311.3	-	1	363	c.109G>T	c.(109-111)Gac>Tac	p.D37Y		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	37										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GGGCCGGAGTCGCCGCCCTCC	0.736													A	120009416	C	A	120009416	3	1	382	1	0	0	0	0	1	0	0	0	4022	884	31	4	798	4	CT47B1	23	120009416	Missense_Mutation	SNP	C	TCGA-DU-7006-01A-11D-2024-08	16597812	120009416	35261144	68	39941											
THOC2	57187	broad.mit.edu	37	chrX	122747329	122747329	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttctttgcctgaagattttGacttatttttttccttgtct	5	24	5	7	0	2	3	0	2	2	1	3	3	3	3	2	0	1	0	2	0	2	9			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:122747329G>C	ENST00000245838.8	-	36	4629	c.4598C>G	c.(4597-4599)tCa>tGa	p.S1533*	THOC2_ENST00000497887.1_5'UTR|THOC2_ENST00000491737.1_Nonsense_Mutation_p.S1418*|THOC2_ENST00000355725.4_Nonsense_Mutation_p.S1533*	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1533	Lys-rich.				intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TGAAGATTTTGACTTATTTTT	0.323													C	122747329	G	C	122747329	4	2	382	1	0	0	0	0	0	1	0	0	15965	1294	45	4	195	4	THOC2	23	122747329	Nonsense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	2737913	122747329	32523231	69	39942											
GPC3	2719	broad.mit.edu	37	chrX	133087087	133087087	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaactcaccttggaaaacCgcagcattctgaataattaa	16	9	6	10	1	2	2	1	1	1	1	2	3	2	3	2	1	3	2	2	1	6	4			TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:133087087C>T	ENST00000370818.3	-	2	772	c.327G>A	c.(325-327)gcG>gcA	p.A109A	GPC3_ENST00000543339.1_Intron|GPC3_ENST00000394299.2_Silent_p.A109A	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	109						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					CTTGGAAAACCGCAGCATTCT	0.378			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				T	133087087	C	T	133087087	2	4	382	1	0	0	0	0	0	0	0	1	6653	639	23	1		1	GPC3	23	133087087	Silent	SNP	C	TCGA-DU-7006-01A-11D-2024-08	10339758	133087087	22183473	70	39943											
MAGEC1	9947	broad.mit.edu	37	chrX	140996473	140996473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgctaaagaataccGtccctattacctttccatcc	10	12	5	14	1	0	1	0	0	0	1	3	1	3	1	6	1	3	1	6	1	6	5	rs147835720		TCGA-DU-7006-01A-11D-2024-08	TCGA-DU-7006-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75d5d3ef-38e4-4cf0-af03-698bb4e86544	f1e2e051-e9aa-48e8-a1f8-4a041025d940	g.chrX:140996473G>A	ENST00000285879.4	+	4	3569	c.3283G>A	c.(3283-3285)Gtc>Atc	p.V1095I	MAGEC1_ENST00000406005.2_Missense_Mutation_p.V162I	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1095	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGAATACCGTCCCTATTAC	0.453										HNSCC(15;0.026)			A	140996473	G	A	140996473	3	1	382	1	0	0	0	0	1	0	0	0	9255	1145	40	1	3289	1	MAGEC1	23	140996473	Missense_Mutation	SNP	G	TCGA-DU-7006-01A-11D-2024-08	7909386	140996473	14274087	71	39944											
BSDC1	55108	broad.mit.edu	37	chr1	32842101	32842101	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgcctctagcagcttttgGgacaggtccttgggtagcac	7	11	13	10	0	1	0	0	0	1	0	2	2	2	1	2	3	4	4	2	3	2	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:32842101G>T	ENST00000341071.7	-	9	980	c.969C>A	c.(967-969)tcC>tcA	p.S323S	BSDC1_ENST00000526031.1_Silent_p.S211S|BSDC1_ENST00000419121.2_Silent_p.S250S|BSDC1_ENST00000455895.2_Silent_p.S306S|BSDC1_ENST00000413080.1_Silent_p.S245S|BSDC1_ENST00000446293.2_Silent_p.S323S|BSDC1_ENST00000449308.1_Silent_p.S306S			Q9NW68	BSDC1_HUMAN	BSD domain containing 1	306							protein binding			breast(1)|central_nervous_system(2)|kidney(1)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	17		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCAGCTTTTGGGACAGGTCCT	0.597													T	32842101	G	T	32842101	2	4	383	1	0	0	0	0	0	0	0	1	1537	1219	43	4		4	BSDC1	1	32842101	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08		32842101	216408520	1	39945											
OLFM3	118427	broad.mit.edu	37	chr1	102290602	102290602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctttttcatgcagtcaCgaagtcttgtttccaagctc	8	16	7	10	1	3	0	2	0	1	0	5	1	4	0	1	0	3	4	1	0	3	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr1:102290602C>T	ENST00000370103.4	-	4	785	c.572G>A	c.(571-573)cGt>cAt	p.R191H	OLFM3_ENST00000536598.1_Missense_Mutation_p.R116H|OLFM3_ENST00000338858.5_Missense_Mutation_p.R211H|OLFM3_ENST00000462354.1_5'UTR|OLFM3_ENST00000359814.3_Missense_Mutation_p.R211H	NM_058170.2	NP_477518.2	Q96PB7	NOE3_HUMAN	olfactomedin 3	211						extracellular region				breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(24)|ovary(3)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	43		all_epithelial(167;1.87e-06)|all_lung(203;8.12e-05)|Lung NSC(277;0.000189)		all cancers(265;0.0843)|Epithelial(280;0.0921)|COAD - Colon adenocarcinoma(174;0.145)		CATGCAGTCACGAAGTCTTGT	0.373													T	102290602	C	T	102290602	3	4	383	1	0	0	0	0	1	0	0	0	10930	536	19	1	816	1	OLFM3	1	102290602	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	69448501	102290602	146960019	2	39946											
TTN	7273	broad.mit.edu	37	chr2	179613099	179613099	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagctcttgactggaagaAatttcttgactggcaaatac	14	11	9	7	0	2	3	0	2	2	1	2	5	2	4	0	2	2	2	0	2	5	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:179613099A>C	ENST00000360870.5	-	46	14250	c.14028T>G	c.(14026-14028)atT>atG	p.I4676M	TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	791	Ig-like 27.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GACTGGAAGAAATTTCTTGAC	0.333													C	179613099	A	C	179613099	3	2	383	1	0	0	0	0	1	0	0	0	16837	10	1	5	96269	5	TTN	2	179613099	Missense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		179613099	63586274	3	39947											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	383	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	29500013	209113112	34086261	4	39948											
CNTN3	5067	broad.mit.edu	37	chr3	74419100	74419100	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctggaagagtttctGgaaactgaacttctatttta	11	15	9	6	0	2	2	0	1	2	1	2	4	2	4	0	2	4	3	0	2	6	6			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:74419100G>C	ENST00000263665.6	-	6	728	c.701C>G	c.(700-702)cCa>cGa	p.P234R		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	234	Ig-like C2-type 3.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		AAGAGTTTCTGGAAACTGAAC	0.333													C	74419100	G	C	74419100	3	2	383	1	0	0	0	0	1	0	0	0	3673	1348	47	4	2453	4	CNTN3	3	74419100	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		74419100	123603330	5	39949											
STX19	415117	broad.mit.edu	37	chr3	93733522	93733522	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatattgatttctgtaagtaAgctttcattaaaaacttccc	13	16	5	7	0	2	1	1	1	1	0	3	2	3	1	1	0	2	3	1	0	6	8			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:93733522A>G	ENST00000315099.2	-	2	848	c.592T>C	c.(592-594)Tta>Cta	p.L198L	ARL13B_ENST00000539730.1_Intron|ARL13B_ENST00000471138.1_Intron|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000486562.1_Intron|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000394222.3_Intron	NM_001001850.2	NP_001001850.1	Q8N4C7	STX19_HUMAN	syntaxin 19	198					intracellular protein transport|vesicle-mediated transport	membrane	SNAP receptor activity			kidney(2)|large_intestine(2)|lung(4)|prostate(1)	9						TCTGTAAGTAAGCTTTCATTA	0.328													G	93733522	A	G	93733522	2	3	383	1	0	0	0	0	0	0	0	1	15438	69	3	3		3	STX19	3	93733522	Silent	SNP	A	TCGA-DU-7007-01A-11D-2024-08	19314422	93733522	104288908	6	39950											
PLCH1	23007	broad.mit.edu	37	chr3	155198970	155198970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagtggcgattcactgcaggGgtgggtgctgagggtttgtt	5	12	19	5	1	1	1	1	1	0	0	1	3	1	1	0	5	2	4	0	5	0	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:155198970G>A	ENST00000460012.1	-	23	5112	c.4755C>T	c.(4753-4755)acC>acT	p.T1585T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1585T|PLCH1_ENST00000340059.7_Silent_p.T1623T|PLCH1_ENST00000414191.1_Silent_p.T1585T|PLCH1_ENST00000494598.1_Intron			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1623					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)			TCACTGCAGGGGTGGGTGCTG	0.577													A	155198970	G	A	155198970	2	1	383	1	0	0	0	0	0	0	0	1	12114	1219	43	2		2	PLCH1	3	155198970	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	61465448	155198970	42823460	7	39951											
ZBBX	79740	broad.mit.edu	37	chr3	166960403	166960403	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgggaactcttctgaGgttaagctgtaaagcttttc	11	14	9	7	0	3	1	0	1	3	0	4	2	3	2	0	2	3	4	0	2	5	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr3:166960403G>T	ENST00000392766.2	-	20	2506	c.2166C>A	c.(2164-2166)acC>acA	p.T722T	ZBBX_ENST00000392767.2_Silent_p.T722T|ZBBX_ENST00000392764.1_Silent_p.T693T|ZBBX_ENST00000307529.5_Silent_p.T761T|ZBBX_ENST00000455345.2_Silent_p.T761T	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	722						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						ACTCTTCTGAGGTTAAGCTGT	0.368													T	166960403	G	T	166960403	2	4	383	1	0	0	0	0	0	0	0	1	17618	987	35	4		4	ZBBX	3	166960403	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	11761433	166960403	31062027	8	39952											
ZNF595	152687	broad.mit.edu	37	chr4	59959	59959	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaataaaacaggttttgtgAtctctaacccagacctggtc	12	13	7	9	0	1	2	0	1	1	1	3	2	1	2	2	2	2	1	2	2	4	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:59959A>G	ENST00000509152.2	+	3	324	c.139A>G	c.(139-141)Atc>Gtc	p.I47V	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Missense_Mutation_p.I47V					zinc finger protein 595											endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		AGGTTTTGTGATCTCTAACCC	0.393													G	59959	A	G	59959	3	3	383	1	0	0	0	0	1	0	0	0	18126	333	12	3	149	3	ZNF595	4	59959	Missense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		59959	191094317	9	39953											
CXXC4	80319	broad.mit.edu	37	chr4	105412082	105412082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggttggctccgccagctcccCctgaggaggacgaggaggag	7	5	17	12	2	0	1	0	1	0	0	2	6	2	5	4	6	1	3	4	6	0	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr4:105412082C>T	ENST00000394767.2	-	2	1328	c.878G>A	c.(877-879)gGg>gAg	p.G293E	CXXC4_ENST00000426831.1_Missense_Mutation_p.G124E|CXXC4_ENST00000466963.1_Intron|AC093628.1_ENST00000606234.1_RNA	NM_025212.2	NP_079488.2	Q9H2H0	CXXC4_HUMAN	CXXC finger protein 4	124					negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway|zygotic specification of dorsal/ventral axis		DNA binding|PDZ domain binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(123;3.05e-08)		GCCAGCTCCCCCTGAGGAGGA	0.602													T	105412082	C	T	105412082	3	4	383	1	0	0	0	0	1	0	0	0	4131	623	22	2	233	2	CXXC4	4	105412082	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	105352123	105412082	85742194	10	39954											
SKP2	6502	broad.mit.edu	37	chr5	36152899	36152899	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggagattccagaccTgagtagcaacgttgccacca	11	7	9	14	1	0	3	0	1	0	2	2	4	2	3	6	1	3	3	6	1	2	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:36152899T>A	ENST00000274255.6	+	2	231	c.35T>A	c.(34-36)cTg>cAg	p.L12Q	SKP2_ENST00000508514.1_Missense_Mutation_p.L12Q|SKP2_ENST00000546211.1_5'UTR|SKP2_ENST00000274254.5_Missense_Mutation_p.L12Q	NM_005983.3	NP_005974.2	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	12					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTCCAGACCTGAGTAGCAAC	0.517													A	36152899	T	A	36152899	3	1	383	1	0	0	0	0	1	0	0	0	14456	1580	55	5	41	5	SKP2	5	36152899	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08		36152899	144762361	11	39955											
GABRA6	2559	broad.mit.edu	37	chr5	161118969	161118969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcaccactgttttaactatGaccactttgagcatcagtgc	11	13	6	11	0	2	2	2	2	0	0	2	2	2	2	2	0	3	2	2	0	2	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr5:161118969G>A	ENST00000523217.1	+	8	1061	c.819G>A	c.(817-819)atG>atA	p.M273I	GABRA6_ENST00000274545.5_Missense_Mutation_p.M283I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	283					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	TTTTAACTATGACCACTTTGA	0.403										TCGA Ovarian(5;0.080)			A	161118969	G	A	161118969	3	1	383	1	0	0	0	0	1	0	0	0	6217	1290	45	2	879	2	GABRA6	5	161118969	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	124966070	161118969	19796291	12	39956											
ROS1	6098	broad.mit.edu	37	chr6	117746774	117746774	+	Frame_Shift_Del	DEL	T	T	-																															aatccataggcagccaagagTtgcaaaattgacaagcttcg																										TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr6:117746774delT	ENST00000368508.3	-	1	244	c.46delA	c.(46-48)actfs	p.T16fs	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.T16fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	16					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CAGCCAAGAGTTGCAAAATTG	0.378			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								-	117746774	T	-	117746774	7	5	383	1	0	1	0	1	0	0	0	0	13622	1725	60	0	7169	0	ROS1	6	117746774	Frame_Shift_Del	DEL	T	TCGA-DU-7007-01A-11D-2024-08		117746774	53368293	13	39957											
ZP3	7784	broad.mit.edu	37	chr7	76054391	76054391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccagccatcctgagaCgtccgtacagcccgtactgg	8	7	12	14	3	0	1	0	1	0	1	2	3	2	2	5	2	5	2	5	2	2	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:76054391C>T	ENST00000394857.3	+	1	168	c.110C>T	c.(109-111)aCg>aTg	p.T37M	ZP3_ENST00000336517.4_5'UTR	NM_001110354.1	NP_001103824.1	P21754	ZP3_HUMAN	zona pellucida glycoprotein 3 (sperm receptor)	37					binding of sperm to zona pellucida|blastocyst formation|egg coat formation|humoral immune response mediated by circulating immunoglobulin|intracellular protein transport|negative regulation of binding of sperm to zona pellucida|negative regulation of transcription, DNA-dependent|oocyte development|phosphatidylinositol-mediated signaling|positive regulation of acrosomal vesicle exocytosis|positive regulation of acrosome reaction|positive regulation of antral ovarian follicle growth|positive regulation of calcium ion import|positive regulation of calcium ion transport via store-operated calcium channel activity|positive regulation of humoral immune response|positive regulation of interferon-gamma production|positive regulation of interleukin-4 production|positive regulation of leukocyte migration|positive regulation of ovarian follicle development|positive regulation of phosphatidylinositol biosynthetic process|positive regulation of protein kinase activity|positive regulation of protein kinase B signaling cascade|positive regulation of T cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of type IV hypersensitivity|protein kinase C signaling cascade	endoplasmic reticulum|extracellular space|Golgi apparatus|integral to membrane|multivesicular body|outer acrosomal membrane|perinuclear region of cytoplasm|plasma membrane|proteinaceous extracellular matrix	acrosin binding|manganese ion transmembrane transporter activity|receptor activity|sugar binding			endometrium(1)|large_intestine(3)|lung(2)|skin(1)	7						CATCCTGAGACGTCCGTACAG	0.587													T	76054391	C	T	76054391	3	4	383	1	0	0	0	0	1	0	0	0	18316	536	19	1	112	1	ZP3	7	76054391	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		76054391	83084272	14	39958											
DLX5	1749	broad.mit.edu	37	chr7	96651603	96651603	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgcggccagctgaaagctgGaataaatagtcctgggttta	12	10	12	7	1	0	1	0	1	0	0	1	2	1	2	2	3	3	3	2	3	6	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:96651603G>C	ENST00000222598.4	-	2	907	c.434C>G	c.(433-435)tCc>tGc	p.S145C	DLX5_ENST00000493764.1_Intron|DLX5_ENST00000486603.2_Missense_Mutation_p.S145C	NM_005221.5	NP_005212.1	P56178	DLX5_HUMAN	distal-less homeobox 5	145					cell proliferation|endochondral ossification|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)	20	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					CTGAAAGCTGGAATAAATAGT	0.498													C	96651603	G	C	96651603	3	2	383	1	0	0	0	0	1	0	0	0	4613	1174	41	4	443	4	DLX5	7	96651603	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	20597212	96651603	62487060	15	39959											
MUC17	140453	broad.mit.edu	37	chr7	100679309	100679309	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcaacagcctttcaacaactCctgctgtcaccagcacacct	11	9	4	17	0	3	0	3	0	0	0	4	0	4	0	4	0	6	2	4	0	3	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:100679309C>G	ENST00000306151.4	+	3	4676	c.4612C>G	c.(4612-4614)Cct>Gct	p.P1538A		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1538	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)					TTCAACAACTCCTGCTGTCAC	0.473													G	100679309	C	G	100679309	3	3	383	1	0	0	0	0	1	0	0	0	10050	855	30	4	4622	4	MUC17	7	100679309	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	4027706	100679309	58459354	16	39960											
PAX4	5078	broad.mit.edu	37	chr7	127255046	127255046	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaattcgagccaccacaGggggtgtagccagccgtggc	8	5	16	12	2	0	0	0	0	0	0	1	1	0	0	4	4	3	2	4	4	2	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:127255046G>C	ENST00000341640.2	-	2	429	c.224C>G	c.(223-225)cCt>cGt	p.P75R	PAX4_ENST00000338516.3_Missense_Mutation_p.P83R|PAX4_ENST00000378740.2_Missense_Mutation_p.P75R|PAX4_ENST00000463946.1_Missense_Mutation_p.P73R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	83	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						AGCCACCACAGGGGGTGTAGC	0.582													C	127255046	G	C	127255046	3	2	383	1	0	0	0	0	1	0	0	0	11557	1000	35	4	839	4	PAX4	7	127255046	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	26575737	127255046	31883617	17	39961											
KEL	3792	broad.mit.edu	37	chr7	142655011	142655011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcagaagtctcagcgttCggttaaagtttaaggaagtc	12	12	10	7	2	3	1	3	0	1	1	6	2	3	2	0	2	1	3	0	2	5	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr7:142655011C>T	ENST00000355265.2	-	6	1049	c.575G>A	c.(574-576)cGa>cAa	p.R192Q	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	192					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding	p.R192Q(1)		central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TCTCAGCGTTCGGTTAAAGTT	0.522													T	142655011	C	T	142655011	3	4	383	1	0	0	0	0	1	0	0	0	8200	884	31	1	1679	1	KEL	7	142655011	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	15399965	142655011	16483652	18	39962											
COL14A1	7373	broad.mit.edu	37	chr8	121290392	121290392	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgatcccagaacagaatttAaactaaatgcttacaaaacc	19	9	4	9	0	0	3	0	1	0	2	1	3	1	3	2	0	5	1	2	0	9	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr8:121290392A>T	ENST00000297848.3	+	27	3526	c.3256A>T	c.(3256-3258)Aaa>Taa	p.K1086*	COL14A1_ENST00000247781.3_Nonsense_Mutation_p.K991*|COL14A1_ENST00000309791.4_Nonsense_Mutation_p.K1086*	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1086	VWFA 2.				cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			AACAGAATTTAAACTAAATGC	0.378													T	121290392	A	T	121290392	4	4	383	1	0	0	0	0	0	1	0	0	3702	363	13	5	3358	5	COL14A1	8	121290392	Nonsense_Mutation	SNP	A	TCGA-DU-7007-01A-11D-2024-08		121290392	25073630	19	39963											
BICD2	23299	broad.mit.edu	37	chr9	95481306	95481306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgttgcacatgcacaCgtggtggtagagattggcca	9	11	12	9	1	1	1	1	0	0	1	1	2	1	1	1	3	2	4	1	3	1	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:95481306C>T	ENST00000356884.6	-	5	1688	c.1621G>A	c.(1621-1623)Gtg>Atg	p.V541M	BICD2_ENST00000375512.3_Missense_Mutation_p.V541M	NM_001003800.1	NP_001003800.1	Q8TD16	BICD2_HUMAN	bicaudal D homolog 2 (Drosophila)	541					microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule	cytoplasmic vesicle|cytoskeleton|Golgi apparatus|plasma membrane	Rab GTPase binding			cervix(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23						CACATGCACACGTGGTGGTAG	0.657													T	95481306	C	T	95481306	3	4	383	1	0	0	0	0	1	0	0	0	1435	536	19	1	968	1	BICD2	9	95481306	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		95481306	45732125	20	39964											
DBH	1621	broad.mit.edu	37	chr9	136501814	136501814	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtgctctggaccgatggGgacactgcctattttgcggt	5	12	15	9	2	1	0	0	0	1	0	1	3	1	2	2	5	3	1	2	5	1	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr9:136501814G>A	ENST00000393056.2	+	1	333	c.321G>A	c.(319-321)ggG>ggA	p.G107G		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	107	DOMON.				hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	GGACCGATGGGGACACTGCCT	0.617													A	136501814	G	A	136501814	2	1	383	1	0	0	0	0	0	0	0	1	4284	1219	43	2		2	DBH	9	136501814	Silent	SNP	G	TCGA-DU-7007-01A-11D-2024-08	41020508	136501814	4711617	21	39965											
RPP30	10556	broad.mit.edu	37	chr10	92631801	92631801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctgaaggctctgcgcGgacttgtggagacagccgct	7	8	14	12	3	1	3	0	2	1	1	1	5	1	4	2	3	2	2	2	3	1	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr10:92631801G>A	ENST00000413330.1	+	1	93	c.58G>A	c.(58-60)Gga>Aga	p.G20R	RPP30_ENST00000371703.3_Missense_Mutation_p.G20R	NM_001104546.1	NP_001098016.1	P78346	RPP30_HUMAN	ribonuclease P/MRP 30kDa subunit	20					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity	p.G20R(1)		central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	8						GGCTCTGCGCGGACTTGTGGA	0.637													A	92631801	G	A	92631801	3	1	383	1	0	0	0	0	1	0	0	0	13703	1117	39	1	60	1	RPP30	10	92631801	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		92631801	42902946	22	39966											
ATG2A	23130	broad.mit.edu	37	chr11	64677554	64677554	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtacggtggccaggcgCagtagggcggccagccggtc	6	4	19	12	4	0	0	0	0	0	0	1	0	0	0	3	7	2	4	3	7	2	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:64677554C>A	ENST00000421419.2	-	13	1935	c.1821G>T	c.(1819-1821)ctG>ctT	p.L607L	ATG2A_ENST00000377264.3_Silent_p.L607L			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	607							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						TGGCCAGGCGCAGTAGGGCGG	0.721													A	64677554	C	A	64677554	2	1	383	1	0	0	0	0	0	0	0	1	1098	697	25	4		4	ATG2A	11	64677554	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		64677554	70328962	23	39967											
SPA17	53340	broad.mit.edu	37	chr11	124564278	124564278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttccggggacacatagccaGagaggaggcaaagaaaatga	16	4	13	8	1	0	3	0	1	0	2	1	6	1	5	2	4	1	1	2	4	4	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr11:124564278G>A	ENST00000532692.1	+	4	1813	c.392G>A	c.(391-393)aGa>aAa	p.R131K	SPA17_ENST00000524614.1_3'UTR|SIAE_ENST00000525730.1_5'UTR|SPA17_ENST00000227135.2_Missense_Mutation_p.R131K			Q15506	SP17_HUMAN	sperm autoantigenic protein 17	131	IQ.				binding of sperm to zona pellucida|ciliary or flagellar motility|signal transduction|spermatogenesis	cytoplasm|flagellum|membrane|motile cilium|primary cilium	cAMP-dependent protein kinase regulator activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	5	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0223)		CACATAGCCAGAGAGGAGGCA	0.408													A	124564278	G	A	124564278	3	1	383	1	0	0	0	0	1	0	0	0	15065	942	33	2	406	2	SPA17	11	124564278	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	59886724	124564278	10442238	24	39968											
M6PR	4074	broad.mit.edu	37	chr12	9094479	9094479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggtcatcccccacacCacgatatgctgcaggcacat	10	7	8	16	1	1	0	1	0	0	0	2	1	2	0	3	2	3	4	3	2	1	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:9094479C>T	ENST00000000412.3	-	7	1237	c.769G>A	c.(769-771)Ggt>Agt	p.G257S		NM_002355.3	NP_002346.1	P20645	MPRD_HUMAN	mannose-6-phosphate receptor (cation dependent)	257					endosome to lysosome transport|receptor-mediated endocytosis	cell surface|endosome|integral to plasma membrane|lysosomal membrane	mannose binding|mannose transmembrane transporter activity|transmembrane receptor activity			cervix(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(1)	11		Hepatocellular(102;0.137)		BRCA - Breast invasive adenocarcinoma(232;0.0146)		TCCCCCACACCACGATATGCT	0.468													T	9094479	C	T	9094479	3	4	383	1	0	0	0	0	1	0	0	0	9211	594	21	2	68	2	M6PR	12	9094479	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		9094479	124757416	25	39969											
PRB3	5544	broad.mit.edu	37	chr12	11420518	11420518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420518G>A	ENST00000279573.7	-	3	800	c.665C>T	c.(664-666)cCg>cTg	p.P222L	PRB3_ENST00000381842.3_Intron|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.P201L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.617													A	11420518	G	A	11420518	3	1	383	1	0	0	0	0	1	0	0	0	12530	1116	39	1	272	1	PRB3	12	11420518	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	2326039	11420518	122431377	26	39970			1	47		2	2	64	G		9.5645e-05
PRB3	5544	broad.mit.edu	37	chr12	11420581	11420581	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtccttctggctttcccGgacgaggtgggggaccttgg	3	11	17	10	2	1	0	0	0	1	0	3	3	3	2	3	7	0	1	3	7	0	3	rs71057716		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:11420581G>A	ENST00000279573.7	-	3	737	c.602C>T	c.(601-603)cCg>cTg	p.P201L	PRB3_ENST00000381842.3_Missense_Mutation_p.P201L|PRB3_ENST00000440870.3_Intron|PRB3_ENST00000538488.1_Missense_Mutation_p.P180L			Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3		10 X 21 AA tandem repeats of [RH]-P-G-K- P-[EQ]-G-[PQS]-P-[PS]-Q-[GE]-G-N-[QK]- [SP]-[QR]-[GR]-P-P-P.|Pro-rich.		Missing (in allele S).			extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TGGCTTTCCCGGACGAGGTGG	0.632													A	11420581	G	A	11420581	3	1	383	1	0	0	0	0	1	0	0	0	12530	1116	39	1	335	1	PRB3	12	11420581	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	63	11420581	122431314	27	39971			1	47		2	2	64	G		9.5645e-05
GPRC5D	55507	broad.mit.edu	37	chr12	13102595	13102595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaccagagcaatgcagaCgaccgggtcgtcccactggg	9	5	15	12	3	0	3	0	1	0	2	2	4	1	3	3	3	2	2	3	3	1	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:13102595C>T	ENST00000228887.1	-	1	723	c.724G>A	c.(724-726)Gtc>Atc	p.V242I	RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000394742.3_RNA|RP11-392P7.6_ENST00000545914.1_RNA|RP11-392P7.6_ENST00000540198.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA|GPRC5D_ENST00000396333.3_Missense_Mutation_p.V242I|RP11-392P7.6_ENST00000543515.2_RNA	NM_018654.1	NP_061124.1	Q9NZD1	GPC5D_HUMAN	G protein-coupled receptor, family C, group 5, member D	242						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)		GCAATGCAGACGACCGGGTCG	0.567													T	13102595	C	T	13102595	3	4	383	1	0	0	0	0	1	0	0	0	6782	536	19	1	323	1	GPRC5D	12	13102595	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	1682014	13102595	120749300	28	39972											
METAP2	10988	broad.mit.edu	37	chr12	95868076	95868078	+	In_Frame_Del	DEL	AAG	AAG	-																															cagccaagaaaaaaagacgaAagaagaagaagagcaaaggg																										TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:95868076_95868078delAAG	ENST00000323666.5	+	1	350_352	c.121_123delAAG	c.(121-123)aagdel	p.K44del	METAP2_ENST00000261220.9_In_Frame_Del_p.K44del|METAP2_ENST00000551840.1_In_Frame_Del_p.K44del|METAP2_ENST00000546753.1_In_Frame_Del_p.K44del|METAP2_ENST00000550777.1_In_Frame_Del_p.K44del	NM_006838.3	NP_006829.1	P50579	AMPM2_HUMAN	methionyl aminopeptidase 2	44	Arg/Lys-rich (basic).				N-terminal protein amino acid modification|peptidyl-methionine modification|protein processing|proteolysis	cytoplasm	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|large_intestine(2)|lung(7)|prostate(1)	13					L-Methionine(DB00134)	AAAAAGACGAAAGAAGAAGAAGA	0.557													-	95868078	AAG	-	95868076	7	5	383	1	0	1	0	1	0	0	0	0	9562	15	1	0	123	0	METAP2	12	95868076	In_Frame_Del	DEL	AAG	TCGA-DU-7007-01A-11D-2024-08	82765481	95868076	37983819	29	39973											
DNAH10	196385	broad.mit.edu	37	chr12	124332564	124332564	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaggaaccggcaaaacCgagaccaccaaggacctggc	14	1	11	15	2	0	1	0	0	0	1	0	4	0	3	6	4	3	2	6	4	4	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr12:124332564C>T	ENST00000409039.3	+	32	5542	c.5517C>T	c.(5515-5517)acC>acT	p.T1839T		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1839	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CCGGCAAAACCGAGACCACCA	0.552													T	124332564	C	T	124332564	2	4	383	1	0	0	0	0	0	0	0	1	4637	639	23	1		1	DNAH10	12	124332564	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08	28464488	124332564	9519331	30	39974											
COL4A2	1284	broad.mit.edu	37	chr13	111147702	111147702	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggttctgacatccaCggagacccaggcttcccagg	9	7	10	15	1	1	2	0	1	1	1	4	3	4	2	4	4	0	2	4	4	0	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr13:111147702C>T	ENST00000360467.5	+	40	3954	c.3648C>T	c.(3646-3648)caC>caT	p.H1216H		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1216	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			CTGACATCCACGGAGACCCAG	0.557													T	111147702	C	T	111147702	2	4	383	1	0	0	0	0	0	0	0	1	3721	535	19	1		1	COL4A2	13	111147702	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		111147702	4022176	31	39975											
FGF7	2252	broad.mit.edu	37	chr15	49776652	49776652	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtaagaggaaaaaaaaCgaagaaagaacaaaaaacag	25	3	8	5	1	0	3	0	0	0	3	1	5	1	4	1	1	3	1	1	1	11	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:49776652C>T	ENST00000267843.4	+	4	1147	c.536C>T	c.(535-537)aCg>aTg	p.T179M	FAM227B_ENST00000299338.6_Intron|FAM227B_ENST00000561064.1_Intron|FGF7_ENST00000560704.1_3'UTR	NM_002009.3	NP_002000.1	P21781	FGF7_HUMAN	fibroblast growth factor 7	179					actin cytoskeleton reorganization|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of keratinocyte migration|positive regulation of keratinocyte proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization at cell surface|secretion by lung epithelial cell involved in lung growth		chemoattractant activity|growth factor activity	p.T179M(1)		kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		all_lung(180;0.00391)		all cancers(107;3.61e-08)|GBM - Glioblastoma multiforme(94;4.06e-05)	Palifermin(DB00039)	GGAAAAAAAACGAAGAAAGAA	0.373													T	49776652	C	T	49776652	3	4	383	1	0	0	0	0	1	0	0	0	5906	536	19	1	546	1	FGF7	15	49776652	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		49776652	52754740	32	39976											
BNIP2	663	broad.mit.edu	37	chr15	59971949	59971949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtttctttctcactttatttCcattaacttctagtgagcct	7	20	4	10	0	3	1	1	1	3	0	5	1	4	1	2	0	2	1	2	0	3	8			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:59971949C>T	ENST00000267859.3	-	4	593	c.500G>A	c.(499-501)gGa>gAa	p.G167E	BNIP2_ENST00000607373.1_Missense_Mutation_p.G46E|BNIP2_ENST00000415213.2_Missense_Mutation_p.G108E			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	46	CRAL-TRIO.				anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						CACTTTATTTCCATTAACTTC	0.368													T	59971949	C	T	59971949	3	4	383	1	0	0	0	0	1	0	0	0	1483	855	30	2	835	2	BNIP2	15	59971949	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	10195297	59971949	42559443	33	39977											
CCDC33	80125	broad.mit.edu	37	chr15	74554908	74554908	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagctgaggatgcagggCaagaaggtaagcaggggctg	12	5	17	7	0	0	2	0	1	0	1	1	3	1	3	1	5	3	6	1	5	4	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr15:74554908C>T	ENST00000321288.5	+	5	922	c.922C>T	c.(922-924)Caa>Taa	p.Q308*	CCDC33_ENST00000398814.3_Nonsense_Mutation_p.Q105*			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	308	C2.						protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GGATGCAGGGCAAGAAGGTAA	0.597													T	74554908	C	T	74554908	4	4	383	1	0	0	0	0	0	1	0	0	2833	711	25	2	323	2	CCDC33	15	74554908	Nonsense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08	14582959	74554908	27976484	34	39978											
GPR139	124274	broad.mit.edu	37	chr16	20043246	20043246	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcggctgccatggtgcggaaCcgcttgctgatgaagcagta	8	8	15	10	3	0	2	0	2	0	0	0	3	0	3	2	3	5	5	2	3	3	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:20043246C>G	ENST00000570682.1	-	2	1173	c.873G>C	c.(871-873)cgG>cgC	p.R291R		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						TGGTGCGGAACCGCTTGCTGA	0.502													G	20043246	C	G	20043246	2	3	383	1	0	0	0	0	0	0	0	1	6702	494	18	4		4	GPR139	16	20043246	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		20043246	70311507	35	39979											
ZNF629	23361	broad.mit.edu	37	chr16	30795077	30795077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggtgctgcaccaggtgcGagctctgcgtgaagctcttg	5	10	15	11	2	2	1	0	1	2	0	2	2	2	1	1	2	6	5	1	2	1	1			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:30795077G>A	ENST00000262525.4	-	3	779	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	191					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			CACCAGGTGCGAGCTCTGCGT	0.657													A	30795077	G	A	30795077	3	1	383	1	0	0	0	0	1	0	0	0	18154	1059	37	1	2041	1	ZNF629	16	30795077	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	10751831	30795077	59559676	36	39980											
AMFR	267	broad.mit.edu	37	chr16	56442018	56442018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctcatcggcgtggtgggcGagaaggaaagctgaaatgca	11	7	16	7	3	1	2	1	1	0	1	2	4	1	3	0	4	3	3	0	4	3	0	rs147760918		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr16:56442018G>A	ENST00000290649.5	-	4	734	c.524C>T	c.(523-525)tCg>tTg	p.S175L		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	175					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						CGTGGTGGGCGAGAAGGAAAG	0.532													A	56442018	G	A	56442018	3	1	383	1	0	0	0	0	1	0	0	0	571	1059	37	1	1451	1	AMFR	16	56442018	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	25646941	56442018	33912735	37	39981											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs68140816		TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:7579311C>G	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			G	7579311	C	G	7579311	5	3	383	1	0	0	0	0	0	0	1	0	16482	521	18	4	926	4	TP53	17	7579311	Splice_Site	SNP	C	TCGA-DU-7007-01A-11D-2024-08		7579311	73615899	38	39982											
HELZ	9931	broad.mit.edu	37	chr17	65105453	65105453	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgttgggtcccgcctgaTatgcaggagaaagctgagga	10	9	14	8	1	0	3	0	2	0	1	1	5	1	4	2	3	2	3	2	3	2	3			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:65105453T>C	ENST00000358691.5	-	29	4434	c.4268A>G	c.(4267-4269)tAt>tGt	p.Y1423C	HELZ_ENST00000580168.1_Missense_Mutation_p.Y1424C	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					TCCCGCCTGATATGCAGGAGA	0.527													C	65105453	T	C	65105453	3	2	383	1	0	0	0	0	1	0	0	0	7104	1406	49	3	1580	3	HELZ	17	65105453	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08	57526142	65105453	16089757	39	39983											
SDK2	54549	broad.mit.edu	37	chr17	71375616	71375616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacaaagacctcctgcgggGggctggagggcccctcaccc	8	4	13	16	1	1	1	1	0	0	1	2	2	2	2	5	5	2	1	5	5	2	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:71375616G>A	ENST00000392650.3	-	35	4835	c.4835C>T	c.(4834-4836)cCc>cTc	p.P1612L	SDK2_ENST00000388726.3_Missense_Mutation_p.P1593L	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1612	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						CTCCTGCGGGGGGCTGGAGGG	0.657													A	71375616	G	A	71375616	3	1	383	1	0	0	0	0	1	0	0	0	14062	1232	43	2	1727	2	SDK2	17	71375616	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08	6270163	71375616	9819594	40	39984											
TTYH2	94015	broad.mit.edu	37	chr17	72246149	72246149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctgcagtttgccgtgccCctcttctccactgcagaggt	4	12	10	15	1	2	1	0	0	2	1	3	1	2	1	4	1	5	4	4	1	0	2			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr17:72246149C>T	ENST00000441391.2	+	3	1254	c.42C>T	c.(40-42)ccC>ccT	p.P14P	TTYH2_ENST00000269346.4_Silent_p.P335P|TTYH2_ENST00000534346.1_3'UTR|TTYH2_ENST00000529107.1_Silent_p.P314P	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	335						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TTGCCGTGCCCCTCTTCTCCA	0.652													T	72246149	C	T	72246149	2	4	383	1	0	0	0	0	0	0	0	1	16842	610	22	2		2	TTYH2	17	72246149	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08	870533	72246149	8949061	41	39985											
ACER1	125981	broad.mit.edu	37	chr19	6307219	6307219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagaagctgcaaagcagacGgtcactgatccagctggtca	12	6	11	12	1	2	3	2	1	0	2	3	3	3	3	2	2	4	4	2	2	2	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:6307219G>A	ENST00000301452.4	-	5	648	c.571C>T	c.(571-573)Cgt>Tgt	p.R191C		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	191						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CAAAGCAGACGGTCACTGATC	0.542													A	6307219	G	A	6307219	3	1	383	1	0	0	0	0	1	0	0	0	138	1116	39	1	231	1	ACER1	19	6307219	Missense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		6307219	52821764	42	39986											
GPR32	2854	broad.mit.edu	37	chr19	51273893	51273893	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggaccagaggctgcagTgacaggcaacctggggtcct	9	5	17	10	0	0	2	0	1	0	1	1	4	1	3	3	6	2	3	3	6	1	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr19:51273893T>A	ENST00000270590.4	+	1	173	c.36T>A	c.(34-36)agT>agA	p.S12R		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	12						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		GAGGCTGCAGTGACAGGCAAC	0.498													A	51273893	T	A	51273893	3	1	383	1	0	0	0	0	1	0	0	0	6742	1693	59	5	38	5	GPR32	19	51273893	Missense_Mutation	SNP	T	TCGA-DU-7007-01A-11D-2024-08	44966674	51273893	7855090	43	39987											
PCIF1	63935	broad.mit.edu	37	chr20	44567656	44567656	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatggccaatgagaatcaCggcagcccccgggaggaagc	12	3	15	11	2	1	2	1	1	0	2	1	6	1	4	3	4	2	1	3	4	3	0			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr20:44567656C>T	ENST00000372409.3	+	3	382	c.18C>T	c.(16-18)caC>caT	p.H6H		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	6						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ATGAGAATCACGGCAGCCCCC	0.602													T	44567656	C	T	44567656	2	4	383	1	0	0	0	0	0	0	0	1	11656	535	19	1		1	PCIF1	20	44567656	Silent	SNP	C	TCGA-DU-7007-01A-11D-2024-08		44567656	18457864	44	39988											
APOBEC3H	164668	broad.mit.edu	37	chr22	39497965	39497965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtggaccacgagaaacCgctttccttcaacccctata	10	11	6	14	2	1	1	1	0	0	1	2	3	2	2	5	1	2	1	5	1	4	5			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chr22:39497965C>T	ENST00000442487.3	+	4	588	c.461C>T	c.(460-462)cCg>cTg	p.P154L	APOBEC3H_ENST00000421988.2_Intron|APOBEC3H_ENST00000348946.4_Missense_Mutation_p.P154L|APOBEC3H_ENST00000401756.1_Missense_Mutation_p.P154L	NM_181773.3	NP_861438.2	Q6NTF7	ABC3H_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3H	154					DNA cytosine deamination|negative regulation of retroviral genome replication|negative regulation of transposition	cytoplasm|nucleus	cytidine deaminase activity|zinc ion binding			central_nervous_system(1)|kidney(8)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15	Melanoma(58;0.04)					CACGAGAAACCGCTTTCCTTC	0.537													T	39497965	C	T	39497965	3	4	383	1	0	0	0	0	1	0	0	0	798	652	23	1	471	1	APOBEC3H	22	39497965	Missense_Mutation	SNP	C	TCGA-DU-7007-01A-11D-2024-08		39497965	11806601	45	39989											
ATRX	546	broad.mit.edu	37	chrX	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaatgataaataatcGtcctctgaaaatgaaaatat	20	11	6	4	1	1	4	0	3	1	1	3	4	2	4	1	0	0	1	1	0	10	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:76814313G>A	ENST00000373344.5	-	29	6545	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2111	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.R2111*(1)|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)	ATAAATAATCGTCCTCTGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76814313	G	A	76814313	4	1	383	1	0	0	0	0	0	1	0	0	1213	1153	40	1	1175	1	ATRX	23	76814313	Nonsense_Mutation	SNP	G	TCGA-DU-7007-01A-11D-2024-08		76814313	78456247	46	39990											
COL4A5	1287	broad.mit.edu	37	chrX	107938508	107938508	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttatagcatacaagtgcAggggcagaaggctcaggtca	12	9	12	8	0	2	1	2	0	0	1	2	1	2	1	0	4	3	4	0	4	5	4			TCGA-DU-7007-01A-11D-2024-08	TCGA-DU-7007-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	df228b01-461e-4a51-8c28-88879459fd88	fa26b78b-94df-41be-a392-604dc13d3b93	g.chrX:107938508A>T	ENST00000328300.6	+	52	5077	c.4833A>T	c.(4831-4833)gcA>gcT	p.A1611A	COL4A5_ENST00000361603.2_Silent_p.A1605A	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1605	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ATACAAGTGCAGGGGCAGAAG	0.488									Alport syndrome with Diffuse Leiomyomatosis				T	107938508	A	T	107938508	2	4	383	1	0	0	0	0	0	0	0	1	3725	175	7	5		5	COL4A5	23	107938508	Silent	SNP	A	TCGA-DU-7007-01A-11D-2024-08	31124195	107938508	47332052	47	39991											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884887	12884887	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacagaacaagatcctcttGgggtgccttaagtgcctcac	10	10	10	11	0	2	2	1	0	1	2	3	2	3	2	3	2	4	1	3	2	4	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:12884887G>T	ENST00000535591.1	-	4	1419	c.1224C>A	c.(1222-1224)ccC>ccA	p.P408P		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	408								p.P408P(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						AGATCCTCTTGGGGTGCCTTA	0.493													T	12884887	G	T	12884887	2	4	384	1	0	0	0	0	0	0	0	1	12509	1335	47	4		4	PRAMEF11	1	12884887	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		12884887	236365734	1	39992											
TMEM82	388595	broad.mit.edu	37	chr1	16074101	16074101	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctgccctcggcacccCagtcccagagttcggccccc	5	5	9	22	2	0	1	0	0	0	1	3	1	1	1	8	2	2	2	8	2	0	1			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:16074101C>A	ENST00000375782.1	+	6	1144	c.1006C>A	c.(1006-1008)Cag>Aag	p.Q336K	RP11-169K16.4_ENST00000418525.1_RNA	NM_001013641.1	NP_001013663.1	A0PJX8	TMM82_HUMAN	transmembrane protein 82	336						integral to membrane				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|lung(5)|prostate(1)|skin(1)	13		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.73e-07)|COAD - Colon adenocarcinoma(227;3.49e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000114)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTCGGCACCCCAGTCCCAGAG	0.602													A	16074101	C	A	16074101	3	1	384	1	0	0	0	0	1	0	0	0	16306	595	21	4	1028	4	TMEM82	1	16074101	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	3189214	16074101	233176520	2	39993											
OR2T11	127077	broad.mit.edu	37	chr1	248789593	248789593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaggattaagcatgggCgtgacaatggtatagaaggc	14	8	15	4	1	0	3	0	2	0	2	0	5	0	4	0	4	1	2	0	4	5	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr1:248789593C>T	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488													T	248789593	C	T	248789593	2	4	384	1	0	0	0	0	0	0	0	1	11094	755	27	1		1	OR2T11	1	248789593	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08	232715492	248789593	461028	3	39994											
SF3B1	23451	broad.mit.edu	37	chr2	198268407	198268407	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcctcaagtgtaggagAcatcagcagaggaagaatct	14	9	11	7	0	3	4	2	1	1	3	4	6	4	5	1	2	1	2	1	2	4	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:198268407A>G	ENST00000335508.6	-	12	1712	c.1621T>C	c.(1621-1623)Tct>Cct	p.S541P		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa		Interaction with SF3B14.				nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			AGTGTAGGAGACATCAGCAGA	0.408			Mis		myelodysplastic syndrome								G	198268407	A	G	198268407	3	3	384	1	0	0	0	0	1	0	0	0	14242	275	10	3	2349	3	SF3B1	2	198268407	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08		198268407	44930966	4	39995											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	384	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	10844705	209113112	34086261	5	39996											
HTR2B	3357	broad.mit.edu	37	chr2	231973908	231973908	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaccatgttaggcgttGaggtggcttgtttttgacta	8	15	12	6	1	1	2	1	2	0	0	1	2	1	2	1	3	1	4	1	3	3	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr2:231973908G>A	ENST00000258400.3	-	4	1281	c.769C>T	c.(769-771)Caa>Taa	p.Q257*	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	257					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	GTTAGGCGTTGAGGTGGCTTG	0.453													A	231973908	G	A	231973908	4	1	384	1	0	0	0	0	0	1	0	0	7500	1299	45	2	680	2	HTR2B	2	231973908	Nonsense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	22860796	231973908	11225465	6	39997											
MAP3K13	9175	broad.mit.edu	37	chr3	185161416	185161416	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attattcatcgtgatctcaaAtcacctaagtgagttctggg	11	14	8	8	1	4	2	3	2	2	0	6	2	4	2	1	1	0	1	1	1	3	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr3:185161416A>G	ENST00000265026.3	+	4	1177	c.843A>G	c.(841-843)aaA>aaG	p.K281K	MAP3K13_ENST00000446828.1_Silent_p.K74K|MAP3K13_ENST00000443863.1_Silent_p.K137K|MAP3K13_ENST00000424227.1_Silent_p.K281K|MAP3K13_ENST00000535426.1_Silent_p.K137K	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	281	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GTGATCTCAAATCACCTAAGT	0.378													G	185161416	A	G	185161416	2	3	384	1	0	0	0	0	0	0	0	1	9322	98	4	3		3	MAP3K13	3	185161416	Silent	SNP	A	TCGA-DU-7008-01A-11D-2024-08		185161416	12861014	7	39998											
FAT1	2195	broad.mit.edu	37	chr4	187524637	187524637	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcagaggactgcaaactAacaatctgtatgtcgttcct	11	12	9	9	1	2	1	1	0	1	1	4	2	3	2	1	2	3	4	1	2	4	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr4:187524637A>G	ENST00000441802.2	-	19	11252	c.11043T>C	c.(11041-11043)gtT>gtC	p.V3681V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3681					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						ACTGCAAACTAACAATCTGTA	0.478										HNSCC(5;0.00058)			G	187524637	A	G	187524637	2	3	384	1	0	0	0	0	0	0	0	1	5738	349	13	3		3	FAT1	4	187524637	Silent	SNP	A	TCGA-DU-7008-01A-11D-2024-08		187524637	3629639	8	39999											
HSD17B4	3295	broad.mit.edu	37	chr5	118867014	118867014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaataggacgccgcctaaaGgatattgggcctgaggtggt	11	8	15	7	2	0	1	0	1	0	0	0	4	0	3	3	5	0	0	3	5	5	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:118867014G>A	ENST00000504811.1	+	23	2167	c.1983G>A	c.(1981-1983)aaG>aaA	p.K661K	HSD17B4_ENST00000414835.2_Silent_p.K496K|HSD17B4_ENST00000509514.1_Silent_p.K374K|HSD17B4_ENST00000515320.1_Silent_p.K618K|HSD17B4_ENST00000522415.1_3'UTR|HSD17B4_ENST00000256216.6_Silent_p.K636K|HSD17B4_ENST00000510025.1_Silent_p.K612K|HSD17B4_ENST00000513628.1_Silent_p.K499K	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	636	SCP2.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	GCCGCCTAAAGGATATTGGGC	0.403													A	118867014	G	A	118867014	2	1	384	1	0	0	0	0	0	0	0	1	7441	991	35	2		2	HSD17B4	5	118867014	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		118867014	62048246	9	40000											
GNPDA1	10007	broad.mit.edu	37	chr5	141381656	141381656	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttctctttgatactgtAcaaggggtccaccaacttgt	8	16	7	10	0	2	1	0	1	2	0	4	1	3	1	2	2	3	1	2	2	4	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:141381656A>G	ENST00000508177.1	-	6	1566	c.808T>C	c.(808-810)Tac>Cac	p.Y270H	GNPDA1_ENST00000513454.1_Intron|GNPDA1_ENST00000500692.2_Missense_Mutation_p.Y270H|GNPDA1_ENST00000311337.6_Missense_Mutation_p.Y270H|GNPDA1_ENST00000542860.1_Missense_Mutation_p.Y193H|GNPDA1_ENST00000503794.1_Missense_Mutation_p.Y270H|GNPDA1_ENST00000458112.2_Missense_Mutation_p.Y236H			P46926	GNPI1_HUMAN	glucosamine-6-phosphate deaminase 1	270					generation of precursor metabolites and energy|glucosamine catabolic process|N-acetylglucosamine metabolic process|single fertilization	cytoplasm	glucosamine-6-phosphate deaminase activity|hydrolase activity			central_nervous_system(1)|lung(1)|skin(3)|stomach(1)	6		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTGATACTGTACAAGGGGTCC	0.388													G	141381656	A	G	141381656	3	3	384	1	0	0	0	0	1	0	0	0	6598	391	14	3	65	3	GNPDA1	5	141381656	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08	22514642	141381656	39533604	10	40001											
FAT2	2196	broad.mit.edu	37	chr5	150925553	150925553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatttcttctgggtggaaAtaaggccagaatatgagttc	12	12	10	7	0	2	2	0	1	2	1	3	3	2	3	2	3	0	1	2	3	5	5			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:150925553A>G	ENST00000261800.5	-	9	5147	c.5135T>C	c.(5134-5136)aTt>aCt	p.I1712T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1712	Cadherin 15.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTGGGTGGAAATAAGGCCAGA	0.443													G	150925553	A	G	150925553	3	3	384	1	0	0	0	0	1	0	0	0	5739	101	4	3	7974	3	FAT2	5	150925553	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08	9543897	150925553	29989707	11	40002											
TIMD4	91937	broad.mit.edu	37	chr5	156349194	156349194	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtagttgggagatgggcaTttcattcttcattgacatgg	9	14	12	6	0	3	2	2	1	1	1	3	3	3	2	0	3	0	3	0	3	1	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr5:156349194T>A	ENST00000274532.2	-	7	984	c.928A>T	c.(928-930)Atg>Ttg	p.M310L	TIMD4_ENST00000407087.3_Missense_Mutation_p.M282L|TIMD4_ENST00000406964.1_Missense_Mutation_p.M12L	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	310						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGATGGGCATTTCATTCTTC	0.517													A	156349194	T	A	156349194	3	1	384	1	0	0	0	0	1	0	0	0	16003	1493	52	5	220	5	TIMD4	5	156349194	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08	5423641	156349194	24566066	12	40003											
KLHDC3	116138	broad.mit.edu	37	chr6	42986679	42986679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagtgctgctgtattgttgGtgacaagattgtcctctttg	6	16	11	8	0	1	2	0	1	1	1	2	2	2	2	2	1	2	4	2	1	2	5			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr6:42986679G>A	ENST00000326974.4	+	8	1094	c.899G>A	c.(898-900)gGt>gAt	p.G300D	KLHDC3_ENST00000244670.8_Missense_Mutation_p.G166D|KLHDC3_ENST00000332245.8_Missense_Mutation_p.G241D	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	300					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TGTATTGTTGGTGACAAGATT	0.512													A	42986679	G	A	42986679	3	1	384	1	0	0	0	0	1	0	0	0	8415	1261	44	2	925	2	KLHDC3	6	42986679	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		42986679	128128388	13	40004											
OR9A2	135924	broad.mit.edu	37	chr7	142723665	142723665	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgagaagagtgttatcGcaggacagtttgagcaattg	11	12	13	5	1	1	3	0	2	1	2	2	5	1	4	0	1	1	4	0	1	3	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr7:142723665G>A	ENST00000350513.2	-	1	617	c.555C>T	c.(553-555)tgC>tgT	p.C185C		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	185					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					GAGTGTTATCGCAGGACAGTT	0.393													A	142723665	G	A	142723665	2	1	384	1	0	0	0	0	0	0	0	1	11324	1079	38	1		1	OR9A2	7	142723665	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		142723665	16414998	14	40005											
TNFRSF10D	8793	broad.mit.edu	37	chr8	23004486	23004486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttaccctgttctacacGtccggcacatctcaggggag	7	11	10	13	2	3	0	1	0	3	0	5	1	4	1	2	3	2	2	2	3	2	3	rs149074636	byFrequency	TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr8:23004486G>A	ENST00000312584.3	-	4	564	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_003840.4	NP_003831.2	Q9UBN6	TR10D_HUMAN	tumor necrosis factor receptor superfamily, member 10d, decoy with truncated death domain	157					anti-apoptosis|apoptosis	integral to membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		TGTTCTACACGTCCGGCACAT	0.507													A	23004486	G	A	23004486	3	1	384	1	0	0	0	0	1	0	0	0	16383	1145	40	1	714	1	TNFRSF10D	8	23004486	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		23004486	123359536	15	40006											
FGD3	89846	broad.mit.edu	37	chr9	95795123	95795123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgcagagattgtttcCtgacacagccagtggcccct	7	11	11	12	0	1	2	0	1	1	1	2	3	2	2	4	1	2	2	4	1	0	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr9:95795123C>T	ENST00000375482.3	+	16	2249	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	FGD3_ENST00000337352.6_Silent_p.L585L|FGD3_ENST00000416701.2_Silent_p.L585L|FGD3_ENST00000538555.1_Silent_p.L188L	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	585					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						AGATTGTTTCCTGACACAGCC	0.637													T	95795123	C	T	95795123	2	4	384	1	0	0	0	0	0	0	0	1	5883	680	24	2		2	FGD3	9	95795123	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08		95795123	45418308	16	40007											
GTPBP4	23560	broad.mit.edu	37	chr10	1061799	1061799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggagtgggagttgctctcGaactccacgtgacgtttctg	6	11	13	11	4	2	1	0	1	2	0	4	4	3	3	2	2	2	3	2	2	1	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:1061799G>A	ENST00000360803.4	+	16	1797	c.1715G>A	c.(1714-1716)cGa>cAa	p.R572Q	GTPBP4_ENST00000545048.1_Missense_Mutation_p.R525Q|GTPBP4_ENST00000538293.1_Missense_Mutation_p.R456Q	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	572					negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of collagen binding|negative regulation of DNA replication|negative regulation of protein ubiquitination|protein stabilization|regulation of cyclin-dependent protein kinase activity|ribosome biogenesis	nucleolus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		AGTTGCTCTCGAACTCCACGT	0.507													A	1061799	G	A	1061799	3	1	384	1	0	0	0	0	1	0	0	0	6937	1058	37	1	1777	1	GTPBP4	10	1061799	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		1061799	134472948	17	40008											
CPEB3	22849	broad.mit.edu	37	chr10	93999920	93999920	+	Frame_Shift_Del	DEL	G	G	-																															tgtccgggccgttgggggccGggggggcagcggctgggctg																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr10:93999920delG	ENST00000412050.4	-	2	276	c.188delC	c.(187-189)ccgfs	p.P63fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.P63fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	63	Pro-rich.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				GTTGGGGGCCGGGGGGGCAGC	0.692													-	93999920	G	-	93999920	7	5	384	1	0	1	0	1	0	0	0	0	3833	1116	39	0	1971	0	CPEB3	10	93999920	Frame_Shift_Del	DEL	G	TCGA-DU-7008-01A-11D-2024-08	92938121	93999920	41534827	18	40009											
PC	5091	broad.mit.edu	37	chr11	66636386	66636386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcgatgaagtagtgcttgCcgtgcctgtccaccaggaac	8	9	11	13	2	0	1	0	1	0	0	2	3	1	2	5	1	4	2	5	1	3	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:66636386C>T	ENST00000393960.1	-	10	1234	c.953G>A	c.(952-954)gGc>gAc	p.G318D	PC_ENST00000355677.3_Missense_Mutation_p.G318D|PC_ENST00000524491.1_Missense_Mutation_p.G278D|PC_ENST00000393958.2_Missense_Mutation_p.G318D|PC_ENST00000393955.2_Missense_Mutation_p.G318D	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	318	ATP-grasp.|Biotin carboxylation.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	GTAGTGCTTGCCGTGCCTGTC	0.677													T	66636386	C	T	66636386	3	4	384	1	0	0	0	0	1	0	0	0	11573	739	26	2	2639	2	PC	11	66636386	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08		66636386	68370130	19	40010											
NUMA1	4926	broad.mit.edu	37	chr11	71718269	71718269	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgatgatctgcgtggtgCgccgacgagcggagcgggtc	5	9	18	9	6	1	2	0	2	1	0	2	5	1	3	1	3	4	1	1	3	0	1			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:71718269C>T	ENST00000393695.3	-	21	5760	c.5429G>A	c.(5428-5430)cGc>cAc	p.R1810H	NUMA1_ENST00000351960.6_Missense_Mutation_p.R674H|NUMA1_ENST00000358965.6_Missense_Mutation_p.R1796H	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1810					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						CTGCGTGGTGCGCCGACGAGC	0.632			T	RARA	APL								T	71718269	C	T	71718269	3	4	384	1	0	0	0	0	1	0	0	0	10826	768	27	1	946	1	NUMA1	11	71718269	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	5081883	71718269	63288247	20	40011											
DLG2	1740	broad.mit.edu	37	chr11	83676479	83676479	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattgctactgcctcttcGtgtgttacttcttctaaact	8	18	5	10	1	3	0	0	0	3	0	4	0	3	0	1	0	5	2	1	0	6	8			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:83676479G>A	ENST00000376106.3	-	0	607				DLG2_ENST00000524982.1_Silent_p.H258H|DLG2_ENST00000537455.1_Silent_p.H12H|DLG2_ENST00000280241.8_Silent_p.H297H|DLG2_ENST00000543673.1_Silent_p.H363H|DLG2_ENST00000398301.2_Silent_p.H297H|DLG2_ENST00000330014.6_Silent_p.H197H|DLG2_ENST00000398309.2_Silent_p.H258H|DLG2_ENST00000531015.1_Silent_p.H225H|DLG2_ENST00000376104.2_Silent_p.H363H|DLG2_ENST00000418306.2_Silent_p.H207H|DLG2_ENST00000532653.1_Silent_p.H258H			Q15700	DLG2_HUMAN	discs, large homolog 2 (Drosophila)							cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				CTGCCTCTTCGTGTGTTACTT	0.353													A	83676479	G	A	83676479	1	1	384	1	0	0	0	0	0	0	0	0	4594	1136	40	1		1	DLG2	11	83676479	Translation_Start_Site	SNP	G	TCGA-DU-7008-01A-11D-2024-08	11958210	83676479	51330037	21	40012											
NFRKB	4798	broad.mit.edu	37	chr11	129739825	129739825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgttggagtggatgaaGgggcactggctgaactggcc	8	9	16	8	0	0	2	0	2	0	0	0	4	0	4	2	6	2	3	2	6	3	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr11:129739825G>A	ENST00000446488.3	-	23	3198	c.3095C>T	c.(3094-3096)cCt>cTt	p.P1032L	NFRKB_ENST00000524746.1_Missense_Mutation_p.P1032L|NFRKB_ENST00000304521.5_Missense_Mutation_p.P1032L|NFRKB_ENST00000524794.1_Missense_Mutation_p.P1057L	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	1032					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		AGTGGATGAAGGGGCACTGGC	0.542													A	129739825	G	A	129739825	3	1	384	1	0	0	0	0	1	0	0	0	10460	1000	35	2	820	2	NFRKB	11	129739825	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	46063346	129739825	5266691	22	40013											
PPHLN1	51535	broad.mit.edu	37	chr12	42835164	42835164	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggatggtggtgaaaatgctGattgaaaaagatccttcatt	13	12	12	4	0	1	4	1	3	0	1	2	5	2	5	1	3	1	1	1	3	4	3			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr12:42835164G>A	ENST00000432191.2	+	9	864	c.792G>A	c.(790-792)ctG>ctA	p.L264L	PPHLN1_ENST00000395568.2_Silent_p.L319L|PPHLN1_ENST00000552761.1_Silent_p.L271L|PPHLN1_ENST00000358314.7_Silent_p.L319L|PPHLN1_ENST00000317560.9_Silent_p.L252L|PPHLN1_ENST00000449194.2_Silent_p.L300L|PPHLN1_ENST00000256678.8_Silent_p.L199L|PPHLN1_ENST00000395580.3_Silent_p.L326L|PPHLN1_ENST00000337898.6_Silent_p.L264L|PPHLN1_ENST00000549190.1_Silent_p.L337L	NM_001143787.1	NP_001137259.1	Q8NEY8	PPHLN_HUMAN	periphilin 1	319					keratinization	cytoplasm|nucleus				breast(5)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	16	all_cancers(12;0.00049)|Breast(8;0.165)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0875)		TGAAAATGCTGATTGAAAAAG	0.368													A	42835164	G	A	42835164	2	1	384	1	0	0	0	0	0	0	0	1	12392	1277	45	2		2	PPHLN1	12	42835164	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08		42835164	91016731	23	40014											
PPP4R4	57718	broad.mit.edu	37	chr14	94674875	94674875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacagaatcccactgagaCgcttcggagagtgttgccaa	11	7	12	11	3	0	3	0	1	0	3	2	6	1	3	2	1	1	2	2	1	2	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr14:94674875C>T	ENST00000304338.3	+	3	420	c.266C>T	c.(265-267)aCg>aTg	p.T89M	PPP4R4_ENST00000555690.1_3'UTR|PPP4R4_ENST00000328839.3_Missense_Mutation_p.T89M	NM_058237.1	NP_478144.1	Q6NUP7	PP4R4_HUMAN	protein phosphatase 4, regulatory subunit 4	89						cytoplasm|protein serine/threonine phosphatase complex	protein binding	p.T89M(1)		NS(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(15)|lung(10)|skin(7)|upper_aerodigestive_tract(2)	40						CCCACTGAGACGCTTCGGAGA	0.388													T	94674875	C	T	94674875	3	4	384	1	0	0	0	0	1	0	0	0	12487	536	19	1	276	1	PPP4R4	14	94674875	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08		94674875	12674665	24	40015											
TP53	7157	broad.mit.edu	37	chr17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcacaaacacgcacctcaAagctgttccgtcccagtaga	13	6	8	14	2	1	1	1	0	0	1	3	1	3	1	3	1	2	5	3	1	3	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr17:7577129A>G	ENST00000420246.2	-	8	941	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000359597.4_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000269305.4_Missense_Mutation_p.F270S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)		ACGCACCTCAAAGCTGTTCCG	0.537		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)			G	7577129	A	G	7577129	3	3	384	1	0	0	0	0	1	0	0	0	16482	14	1	3	477	3	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-DU-7008-01A-11D-2024-08		7577129	73618081	25	40016											
SMARCA4	6597	broad.mit.edu	37	chr19	11144096	11144098	+	In_Frame_Del	DEL	AGA	AGA	-																															gtacaagctcaacgtggaccAgaaggtgatccaggccggca																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:11144096_11144098delAGA	ENST00000358026.2	+	26	3961_3963	c.3677_3679delAGA	c.(3676-3681)cagaag>cag	p.K1227del	SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1227del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1227del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1227del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1227del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1227del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1227	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AACGTGGACCAGAAGGTGATCCA	0.616			"F, N, Mis"		NSCLC								-	11144098	AGA	-	11144096	7	5	384	1	0	1	0	1	0	0	0	0	14864	188	7	0	3775	0	SMARCA4	19	11144096	In_Frame_Del	DEL	AGA	TCGA-DU-7008-01A-11D-2024-08		11144096	47984887	26	40017											
ZNF791	163049	broad.mit.edu	37	chr19	12739849	12739849	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgaatgtaaggaatgcggGaaggcctttatttatcccac	12	12	10	7	1	0	1	0	1	0	0	1	3	1	3	2	3	1	1	2	3	7	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:12739849G>T	ENST00000343325.4	+	4	1668	c.1506G>T	c.(1504-1506)ggG>ggT	p.G502G	ZNF791_ENST00000446165.1_3'UTR|ZNF791_ENST00000540038.1_Silent_p.G393G|ZNF791_ENST00000458122.3_Silent_p.G470G|ZNF490_ENST00000465656.1_Intron	NM_153358.2	NP_699189.2	Q3KP31	ZN791_HUMAN	zinc finger protein 791	502					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)	19						AGGAATGCGGGAAGGCCTTTA	0.388													T	12739849	G	T	12739849	2	4	384	1	0	0	0	0	0	0	0	1	18262	1161	41	4		4	ZNF791	19	12739849	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08	1595753	12739849	46389134	27	40018											
RAB8A	4218	broad.mit.edu	37	chr19	16238875	16238875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagttcatggagaccagcGcgaaggccaacatcaatgtg	13	7	11	10	2	3	1	3	0	0	1	3	3	3	1	2	2	2	1	2	2	4	1			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:16238875G>A	ENST00000300935.3	+	6	727	c.454G>A	c.(454-456)Gcg>Acg	p.A152T	CTD-2231E14.8_ENST00000597983.1_RNA|RAB8A_ENST00000586682.1_Missense_Mutation_p.A152T	NM_005370.4	NP_005361.2	P61006	RAB8A_HUMAN	RAB8A, member RAS oncogene family	152					cilium assembly|Golgi vesicle fusion to target membrane|protein transport|small GTPase mediated signal transduction|vesicle docking involved in exocytosis	Golgi apparatus|nonmotile primary cilium|perinuclear region of cytoplasm|plasma membrane	GTP binding|protein binding			endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	8						GGAGACCAGCGCGAAGGCCAA	0.617													A	16238875	G	A	16238875	3	1	384	1	0	0	0	0	1	0	0	0	13044	1087	38	1	476	1	RAB8A	19	16238875	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	3499026	16238875	42890108	28	40019											
ZNF571	51276	broad.mit.edu	37	chr19	38055540	38055540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtaagttgtgaaggaCatctaaagtctttaccacac	13	12	9	7	0	2	2	0	2	2	0	2	3	2	3	1	1	1	3	1	1	5	6			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:38055540C>T	ENST00000328550.2	-	4	1889	c.1790G>A	c.(1789-1791)tGt>tAt	p.C597Y	ZNF540_ENST00000592533.1_Intron|ZNF571_ENST00000358744.3_Missense_Mutation_p.C597Y|ZNF571_ENST00000451802.2_Missense_Mutation_p.C597Y|ZNF571-AS1_ENST00000586013.1_RNA|ZNF571-AS1_ENST00000590838.1_RNA|ZNF571-AS1_ENST00000587121.1_RNA|ZNF571-AS1_ENST00000592392.1_RNA|ZNF571_ENST00000593133.1_Missense_Mutation_p.C597Y|ZNF571-AS1_ENST00000589802.1_RNA|ZNF571_ENST00000590751.1_Intron|ZNF571-AS1_ENST00000586139.1_RNA|ZNF571-AS1_ENST00000585578.1_RNA|ZNF571-AS1_ENST00000591430.1_RNA|ZNF571-AS1_ENST00000589750.1_RNA			Q7Z3V5	ZN571_HUMAN	zinc finger protein 571	597					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	25			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTGTGAAGGACATCTAAAGTC	0.373													T	38055540	C	T	38055540	3	4	384	1	0	0	0	0	1	0	0	0	18104	478	17	2	43	2	ZNF571	19	38055540	Missense_Mutation	SNP	C	TCGA-DU-7008-01A-11D-2024-08	21816665	38055540	21073443	29	40020											
IL4I1	259307	broad.mit.edu	37	chr19	50394683	50394685	+	In_Frame_Del	DEL	CTT	CTT	-																															aagagcgtgtgcctttcaaaCttcttcatcgcctttctgca																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr19:50394683_50394685delCTT	ENST00000595948.1	-	8	1299_1301	c.679_681delAAG	c.(679-681)aagdel	p.K227del	IL4I1_ENST00000391826.2_In_Frame_Del_p.K205del|IL4I1_ENST00000341114.3_In_Frame_Del_p.K227del	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	205						lysosome	L-amino-acid oxidase activity			endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		GCCTTTCAAACTTCTTCATCGCC	0.571													-	50394685	CTT	-	50394683	7	5	384	1	0	1	0	1	0	0	0	0	7755	564	20	0	1100	0	IL4I1	19	50394683	In_Frame_Del	DEL	CTT	TCGA-DU-7008-01A-11D-2024-08	12339143	50394683	8734300	30	40021											
PPP1R16B	26051	broad.mit.edu	37	chr20	37536526	37536526	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgatcatgaagtcacagCtgaggcacaagtcatccttg	12	10	10	9	0	3	3	3	3	0	0	4	3	4	3	1	1	1	2	1	1	2	1			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr20:37536526C>T	ENST00000299824.1	+	9	1165	c.976C>T	c.(976-978)Ctg>Ttg	p.L326L	PPP1R16B_ENST00000373331.2_Silent_p.L284L	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	326					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GAAGTCACAGCTGAGGCACAA	0.592													T	37536526	C	T	37536526	2	4	384	1	0	0	0	0	0	0	0	1	12448	796	28	2		2	PPP1R16B	20	37536526	Silent	SNP	C	TCGA-DU-7008-01A-11D-2024-08		37536526	25488994	31	40022											
LMF2	91289	broad.mit.edu	37	chr22	50944111	50944111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgacacgcacaggtggccGtcttcttgcggctgccgtgg	5	9	15	12	4	2	1	0	1	2	0	2	1	2	1	2	4	2	2	2	4	0	2	rs149785243		TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chr22:50944111G>A	ENST00000216080.5	-	6	1001	c.833C>T	c.(832-834)aCg>aTg	p.T278M	LMF2_ENST00000380796.3_Missense_Mutation_p.T303M|LMF2_ENST00000474879.2_Missense_Mutation_p.T303M			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	303						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ACAGGTGGCCGTCTTCTTGCG	0.642													A	50944111	G	A	50944111	3	1	384	1	0	0	0	0	1	0	0	0	8907	1145	40	1	1251	1	LMF2	22	50944111	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08		50944111	360455	32	40023											
XK	7504	broad.mit.edu	37	chrX	37587096	37587096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgaagacctgggtggtggTtataatactcatcaacttct	10	13	9	9	0	3	2	2	1	1	1	3	2	3	2	2	3	2	1	2	3	5	4			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:37587096T>A	ENST00000378616.3	+	3	919	c.716T>A	c.(715-717)gTt>gAt	p.V239D	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	239					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				TGGGTGGTGGTTATAATACTC	0.498													A	37587096	T	A	37587096	3	1	384	1	0	0	0	0	1	0	0	0	17533	1725	60	5	726	5	XK	23	37587096	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08		37587096	117683464	33	40024											
USP11	8237	broad.mit.edu	37	chrX	47101045	47101045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcatgaggaccttaatcggGtgaagaagaaggagtatgtg	13	9	15	4	1	0	4	0	2	0	2	1	6	0	6	1	3	1	2	1	3	5	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:47101045G>A	ENST00000377107.2	+	9	1480	c.1126G>A	c.(1126-1128)Gtg>Atg	p.V376M	USP11_ENST00000218348.3_Missense_Mutation_p.V419M			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	419					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CCTTAATCGGGTGAAGAAGAA	0.557													A	47101045	G	A	47101045	3	1	384	1	0	0	0	0	1	0	0	0	17144	1261	44	2	1289	2	USP11	23	47101045	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	9513949	47101045	108169515	34	40025											
SSX1	6756	broad.mit.edu	37	chrX	48116711	48116711	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctttgcaaagagacccaGggatgatgctaaagcatcag	14	7	10	10	0	1	2	1	1	0	1	1	4	1	3	2	1	3	3	2	1	3	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:48116711G>T	ENST00000376919.3	+	2	171	c.35G>T	c.(34-36)aGg>aTg	p.R12M		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	12					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AAGAGACCCAGGGATGATGCT	0.547			T	SS18	synovial sarcoma								T	48116711	G	T	48116711	3	4	384	1	0	0	0	0	1	0	0	0	15299	1000	35	4	37	4	SSX1	23	48116711	Missense_Mutation	SNP	G	TCGA-DU-7008-01A-11D-2024-08	1015666	48116711	107153849	35	40026											
ATRX	546	broad.mit.edu	37	chrX	76940037	76940038	+	Frame_Shift_Ins	INS	-	-	T																															tgcatttcttgcagaaagcaINSttatggcaaaagtcacaaca																										TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:76940037_76940038insT	ENST00000373344.5	-	9	924_925	c.710_711insA	c.(709-711)aatfs	p.N237fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.N199fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	237	ADD.				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)	TGCAGAAAGCATTATGGCAAAA	0.381			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76940038	-	T	76940037	7	5	384	1	0	1	1	0	0	0	0	0	1213	214	8	0	6875	0	ATRX	23	76940037	Frame_Shift_Ins	INS	-	TCGA-DU-7008-01A-11D-2024-08	28823326	76940037	78330523	36	40027											
XKRX	402415	broad.mit.edu	37	chrX	100169558	100169558	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacagtaattcagtaacacTttcactccaaagaacttaaa	17	11	4	9	0	2	2	2	1	0	1	3	2	3	2	1	0	2	2	1	0	6	5			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:100169558T>A	ENST00000328526.5	-	3	1723	c.1158A>T	c.(1156-1158)aaA>aaT	p.K386N	XKRX_ENST00000468904.1_3'UTR|XKRX_ENST00000372956.2_Missense_Mutation_p.K373N	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	373						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TCAGTAACACTTTCACTCCAA	0.423													A	100169558	T	A	100169558	3	1	384	1	0	0	0	0	1	0	0	0	17541	1606	56	5	234	5	XKRX	23	100169558	Missense_Mutation	SNP	T	TCGA-DU-7008-01A-11D-2024-08	23229521	100169558	55101002	37	40028											
PDZD4	57595	broad.mit.edu	37	chrX	153069774	153069774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggacagctcgtgcttcttGggctcgctggccgccaggtc	3	10	14	14	4	1	0	0	0	1	0	5	1	1	1	2	4	2	4	2	4	0	2			TCGA-DU-7008-01A-11D-2024-08	TCGA-DU-7008-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c15983e-ae64-402f-908c-72a55f792e06	1b8094fc-ab39-4fd4-bf93-6cc777c62e61	g.chrX:153069774G>T	ENST00000164640.4	-	8	1535	c.1344C>A	c.(1342-1344)ccC>ccA	p.P448P	PDZD4_ENST00000393758.2_Silent_p.P373P|PDZD4_ENST00000544474.1_Silent_p.P339P	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	448						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTGCTTCTTGGGCTCGCTGG	0.652													T	153069774	G	T	153069774	2	4	384	1	0	0	0	0	0	0	0	1	11779	1335	47	4		4	PDZD4	23	153069774	Silent	SNP	G	TCGA-DU-7008-01A-11D-2024-08	52900216	153069774	2200786	38	40029											
ARID1A	8289	broad.mit.edu	37	chr1	27106319	27106320	+	Frame_Shift_Del	DEL	TT	TT	-																															tctggactggcaggattctcTtgccaagcgctgcgtctgtg																										TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:27106319_27106320delTT	ENST00000324856.7	+	20	6301_6302	c.5930_5931delTT	c.(5929-5931)cttfs	p.L1977fs	ARID1A_ENST00000540690.1_Frame_Shift_Del_p.L305fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.L1594fs|ARID1A_ENST00000457599.2_Frame_Shift_Del_p.L1760fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1977					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CAGGATTCTCTTGCCAAGCGCT	0.545			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106320	TT	-	27106319	7	5	385	1	0	1	0	1	0	0	0	0	916	1609	56	0	6008	0	ARID1A	1	27106319	Frame_Shift_Del	DEL	TT	TCGA-DU-7009-01A-11D-2024-08		27106319	222144302	1	40030											
JAK1	3716	broad.mit.edu	37	chr1	65303662	65303662	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgacggtgtaatactccttAtcggtttcaattgctttggt	7	18	9	7	2	1	1	1	1	0	0	3	1	2	1	1	3	2	3	1	3	4	7	rs17392258		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:65303662A>G	ENST00000342505.4	-	22	3341	c.3093T>C	c.(3091-3093)gaT>gaC	p.D1031D		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	1031	Protein kinase 2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		AATACTCCTTATCGGTTTCAA	0.423			Mis		ALL								G	65303662	A	G	65303662	2	3	385	1	0	0	0	0	0	0	0	1	7995	446	16	3		3	JAK1	1	65303662	Silent	SNP	A	TCGA-DU-7009-01A-11D-2024-08	38197343	65303662	183946959	2	40031											
EPRS	2058	broad.mit.edu	37	chr1	220203735	220203735	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacattttcttacccactggCctctggaggaaatctgacgg	9	12	9	11	1	3	1	0	1	3	0	3	3	3	3	2	4	2	0	2	4	3	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:220203735C>A	ENST00000366923.3	-	6	885	c.616G>T	c.(616-618)Gcc>Tcc	p.A206S		NM_004446.2	NP_004437.2	P07814	SYEP_HUMAN	glutamyl-prolyl-tRNA synthetase	206	Glutamyl-tRNA synthetase.				glutamyl-tRNA aminoacylation|prolyl-tRNA aminoacylation|protein complex assembly	cytosol|soluble fraction	ATP binding|glutamate-tRNA ligase activity|proline-tRNA ligase activity|protein binding|RNA binding			breast(2)|endometrium(11)|kidney(2)|large_intestine(13)|lung(24)|ovary(1)|prostate(3)|skin(2)|stomach(2)|urinary_tract(3)	63				GBM - Glioblastoma multiforme(131;0.0735)	L-Glutamic Acid(DB00142)|L-Proline(DB00172)	TACCCACTGGCCTCTGGAGGA	0.358													A	220203735	C	A	220203735	3	1	385	1	0	0	0	0	1	0	0	0	5232	739	26	4	4030	4	EPRS	1	220203735	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	154900073	220203735	29046886	3	40032											
AHCTF1	25909	broad.mit.edu	37	chr1	247013166	247013167	+	Frame_Shift_Ins	INS	-	-	T																															ctttcagtcttttttgtaagINSttttttcttagagctcatca																										TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr1:247013166_247013167insT	ENST00000366508.1	-	33	6382_6383	c.6246_6247insA	c.(6244-6249)aaacttfs	p.L2083fs	AHCTF1_ENST00000326225.3_Frame_Shift_Ins_p.L2057fs|AHCTF1_ENST00000391829.2_Frame_Shift_Ins_p.L2048fs|AHCTF1_ENST00000470300.1_5'UTR			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	2048	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTTTTTGTAAGTTTTTTCTTAG	0.366													T	247013167	-	T	247013166	7	5	385	1	0	1	1	0	0	0	0	0	408	1029	36	0	674	0	AHCTF1	1	247013166	Frame_Shift_Ins	INS	-	TCGA-DU-7009-01A-11D-2024-08	26809431	247013166	2237455	4	40033											
ATP6V1C2	245973	broad.mit.edu	37	chr2	10917798	10917798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgctaggtaaccctgataggCctgctgcggggcagaccgac	8	6	14	13	3	0	2	0	1	0	1	0	3	0	2	3	4	3	4	3	4	3	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:10917798C>T	ENST00000272238.4	+	11	1022	c.913C>T	c.(913-915)Cct>Tct	p.P305S	ATP6V1C2_ENST00000381661.3_Intron	NM_001039362.1	NP_001034451.1	Q8NEY4	VATC2_HUMAN	ATPase, H+ transporting, lysosomal 42kDa, V1 subunit C2	305					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting V-type ATPase, V1 domain				endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.15)|OV - Ovarian serous cystadenocarcinoma(76;0.152)		CCCTGATAGGCCTGCTGCGGG	0.587													T	10917798	C	T	10917798	3	4	385	1	0	0	0	0	1	0	0	0	1186	739	26	2	951	2	ATP6V1C2	2	10917798	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		10917798	232281575	5	40034											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	385	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	198195314	209113112	34086261	6	40035											
DCTD	1635	broad.mit.edu	37	chr4	183815663	183815663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggatgatgagcttagCgcattcattacaagggaaca	12	10	11	8	1	1	2	1	2	0	0	1	4	1	4	1	2	5	2	1	2	4	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr4:183815663C>T	ENST00000438320.2	-	4	630	c.340G>A	c.(340-342)Gct>Act	p.A114T	DCTD_ENST00000357067.3_Missense_Mutation_p.A125T|DCTD_ENST00000510370.1_Missense_Mutation_p.A114T	NM_001921.2	NP_001912.2	P32321	DCTD_HUMAN	dCMP deaminase	114					nucleotide biosynthetic process|pyrimidine base metabolic process|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide metabolic process	cytosol	dCMP deaminase activity|zinc ion binding	p.A114T(1)		endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|urinary_tract(1)	18		all_lung(41;5.16e-14)|Lung NSC(41;1.33e-13)|Colorectal(36;0.00666)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.202)		all cancers(43;1.65e-24)|Epithelial(43;3.44e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.39e-10)|Colorectal(24;4.69e-07)|COAD - Colon adenocarcinoma(29;7.07e-05)|STAD - Stomach adenocarcinoma(60;0.000118)|GBM - Glioblastoma multiforme(59;0.000472)|LUSC - Lung squamous cell carcinoma(40;0.00984)|READ - Rectum adenocarcinoma(43;0.0419)		ATGAGCTTAGCGCATTCATTA	0.468													T	183815663	C	T	183815663	3	4	385	1	0	0	0	0	1	0	0	0	4339	768	27	1	208	1	DCTD	4	183815663	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		183815663	7338613	7	40036											
NIPBL	25836	broad.mit.edu	37	chr5	36961657	36961657	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcatcttccaattatcaaCaaaccactatctcacatagc	14	11	2	14	0	3	0	2	0	2	0	5	0	4	0	2	0	4	1	2	0	6	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:36961657C>T	ENST00000282516.8	+	5	929	c.430C>T	c.(430-432)Caa>Taa	p.Q144*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Q144*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	144					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAATTATCAACAAACCACTAT	0.338													T	36961657	C	T	36961657	4	4	385	1	0	0	0	0	0	1	0	0	10504	479	17	2	444	2	NIPBL	5	36961657	Nonsense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		36961657	143953603	8	40037											
SLC22A5	6584	broad.mit.edu	37	chr5	131722739	131722739	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccctgagtccccccgaTggctcatctctcagggacga	7	9	9	16	2	4	1	3	1	1	0	7	4	6	2	4	2	0	1	4	2	0	0	rs72552729		TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr5:131722739T>G	ENST00000245407.3	+	5	1068	c.847T>G	c.(847-849)Tgg>Ggg	p.W283G	SLC22A5_ENST00000435065.2_Missense_Mutation_p.W307G	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	283			W -> C (in CDSP; reduces L-carnitine uptake).|W -> R (in CDSP).		positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	GTCCCCCCGATGGCTCATCTC	0.557											OREG0016767	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	131722739	T	G	131722739	3	3	385	1	0	0	0	0	1	0	0	0	14551	1464	51	5	865	5	SLC22A5	5	131722739	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08	94761082	131722739	49192521	9	40038											
THBS2	7058	broad.mit.edu	37	chr6	169621604	169621604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagccaatgttcctggggtCgtgccataaggttcgcacct	7	10	11	13	2	0	0	0	0	0	0	3	0	1	0	5	3	2	3	5	3	2	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr6:169621604C>T	ENST00000366787.3	-	21	3541	c.3292G>A	c.(3292-3294)Gac>Aac	p.D1098N	XXyac-YX65C7_A.2_ENST00000444188.1_RNA|THBS2_ENST00000488355.1_5'UTR	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1098	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		TTCCTGGGGTCGTGCCATAAG	0.562													T	169621604	C	T	169621604	3	4	385	1	0	0	0	0	1	0	0	0	15954	884	31	1	238	1	THBS2	6	169621604	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08		169621604	1493463	10	40039											
PRUNE2	158471	broad.mit.edu	37	chr9	79324331	79324331	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcaccgaatcttctcctagGttggatgcactgtaatcaga	10	11	10	10	1	3	1	1	0	2	1	4	3	3	2	2	3	1	4	2	3	3	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr9:79324331G>A	ENST00000428286.1	-	8	2982	c.1782C>T	c.(1780-1782)aaC>aaT	p.N594N	PRUNE2_ENST00000376718.3_Silent_p.N953N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	953					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						CTTCTCCTAGGTTGGATGCAC	0.423													A	79324331	G	A	79324331	2	1	385	1	0	0	0	0	0	0	0	1	12726	1252	44	2		2	PRUNE2	9	79324331	Silent	SNP	G	TCGA-DU-7009-01A-11D-2024-08		79324331	61889100	11	40040											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052015	81052015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cggcagccgctgcagcagcgGcagtggcagcagcagcagcc	8	2	16	15	3	0	0	0	0	0	0	0	0	0	0	2	3	8	9	2	3	0	0			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr10:81052015G>A	ENST00000334512.5	+	11	1431	c.859G>A	c.(859-861)Gca>Aca	p.A287T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	287	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			tgcagcagcggcagtggcagc	0.652													A	81052015	G	A	81052015	3	1	385	1	0	0	0	0	1	0	0	0	17797	1203	42	2	885	2	ZMIZ1	10	81052015	Missense_Mutation	SNP	G	TCGA-DU-7009-01A-11D-2024-08		81052015	54482732	12	40041											
WIF1	11197	broad.mit.edu	37	chr12	65460426	65460426	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaactgttacctttgTcacagttcactccatagaat	15	12	5	9	0	2	2	2	0	0	2	3	2	3	2	2	0	2	2	2	0	6	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:65460426T>C	ENST00000286574.4	-	6	1099	c.725A>G	c.(724-726)gAc>gGc	p.D242G		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	242	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		GTTACCTTTGTCACAGTTCAC	0.373			T	HMGA2	pleomorphic salivary gland adenoma								C	65460426	T	C	65460426	3	2	385	1	0	0	0	0	1	0	0	0	17468	1667	58	3	434	3	WIF1	12	65460426	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08		65460426	68391469	13	40042											
ANO4	121601	broad.mit.edu	37	chr12	101437335	101437335	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtaaagaagtctgccaagcTacagatatcatcatgtgtcc	14	10	8	9	0	3	2	2	0	1	2	4	2	4	2	2	0	3	2	2	0	6	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr12:101437335T>A	ENST00000392979.3	+	12	1429	c.1068T>A	c.(1066-1068)gcT>gcA	p.A356A	ANO4_ENST00000299222.9_5'UTR|ANO4_ENST00000392977.3_Silent_p.A391A	NM_178826.3	NP_849148.2	Q32M45	ANO4_HUMAN	anoctamin 4	391						chloride channel complex	chloride channel activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(4)|prostate(5)|skin(7)|stomach(2)|urinary_tract(1)	78						TCTGCCAAGCTACAGATATCA	0.373										HNSCC(74;0.22)			A	101437335	T	A	101437335	2	1	385	1	0	0	0	0	0	0	0	1	699	1509	53	5		5	ANO4	12	101437335	Silent	SNP	T	TCGA-DU-7009-01A-11D-2024-08	35976909	101437335	32414560	14	40043											
TBC1D24	57465	broad.mit.edu	37	chr16	2550805	2550805	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgacctgagcatcctgcagGgggaggaggcggccaggcgc	7	4	18	12	2	0	2	0	2	0	0	1	4	1	4	3	6	2	2	3	6	0	0			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2550805G>T	ENST00000567020.1	+	7	1648	c.1508G>T	c.(1507-1509)gGg>gTg	p.G503V	TBC1D24_ENST00000293970.5_Splice_Site_p.G509V|RP11-20I23.1_ENST00000564543.1_Intron|TBC1D24_ENST00000434757.2_Splice_Site_p.G509V	NM_020705.2	NP_065756.1	Q9ULP9	TBC24_HUMAN	TBC1 domain family, member 24	509	TLD.				neuron projection development	cytoplasm	protein binding|Rab GTPase activator activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)	13						CATCCTGCAGGGGGAGGAGGC	0.662													T	2550805	G	T	2550805	5	4	385	1	0	0	0	0	0	0	1	0	15711	1246	43	4	1530	4	TBC1D24	16	2550805	Splice_Site	SNP	G	TCGA-DU-7009-01A-11D-2024-08		2550805	87803948	15	40044											
SRRM2	23524	broad.mit.edu	37	chr16	2814039	2814039	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaaagagaaaatggccttAccccctcaggaggatgctac	14	7	9	11	0	2	1	2	0	0	1	2	4	2	3	3	3	3	1	3	3	6	2			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr16:2814039A>T	ENST00000301740.8	+	11	4059	c.3510A>T	c.(3508-3510)ttA>ttT	p.L1170F		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1170	Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						AAATGGCCTTACCCCCTCAGG	0.463													T	2814039	A	T	2814039	3	4	385	1	0	0	0	0	1	0	0	0	15265	388	14	5	3548	5	SRRM2	16	2814039	Missense_Mutation	SNP	A	TCGA-DU-7009-01A-11D-2024-08	263234	2814039	87540714	16	40045											
SLC47A1	55244	broad.mit.edu	37	chr17	19459308	19459308	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagctgtctttcttcaccagGcatcctcggcatggtggagc	6	11	11	13	1	3	0	1	0	2	0	5	1	4	1	2	4	2	3	2	4	0	2			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr17:19459308G>A	ENST00000270570.4	+	10	940	c.854G>A	c.(853-855)gGc>gAc	p.G285D	SLC47A1_ENST00000575023.1_Intron|SLC47A1_ENST00000395585.1_Splice_Site_p.G285D|SLC47A1_ENST00000571335.1_Splice_Site_p.G90D|SLC47A1_ENST00000436810.2_Splice_Site_p.G262D|SLC47A1_ENST00000542886.1_3'UTR|SLC47A1_ENST00000457293.1_Splice_Site_p.G285D	NM_018242.2	NP_060712.2	Q96FL8	S47A1_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 1	285						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(4)|lung(5)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_cancers(12;2.49e-05)|all_epithelial(12;0.00263)|Hepatocellular(7;0.00345)					TCTTCACCAGGCATCCTCGGC	0.592													A	19459308	G	A	19459308	5	1	385	1	0	0	0	0	0	0	1	0	14741	1217	42	2	892	2	SLC47A1	17	19459308	Splice_Site	SNP	G	TCGA-DU-7009-01A-11D-2024-08		19459308	61735902	17	40046											
ALPK2	115701	broad.mit.edu	37	chr18	56203279	56203279	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtgtgatccatcttgagTtgtttttcctcctggtcttg	4	18	10	9	0	2	2	0	2	2	0	5	2	5	2	3	1	0	3	3	1	0	5	rs36075387	byFrequency	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr18:56203279T>C	ENST00000361673.3	-	5	4353	c.4140A>G	c.(4138-4140)caA>caG	p.Q1380Q	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1380							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCATCTTGAGTTGTTTTTCCT	0.413													C	56203279	T	C	56203279	2	2	385	1	0	0	0	0	0	0	0	1	545	1722	60	3		3	ALPK2	18	56203279	Silent	SNP	T	TCGA-DU-7009-01A-11D-2024-08		56203279	21873969	18	40047											
VSX1	30813	broad.mit.edu	37	chr20	25059381	25059381	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcgtgttggctatagagaAgggactgctgattggctcac	9	10	15	7	1	1	2	1	1	0	1	1	5	1	3	0	3	2	4	0	3	3	4	rs56157240	by1000genomes	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr20:25059381A>T	ENST00000376707.3	-	3	745	c.711T>A	c.(709-711)ccT>ccA	p.P237P	VSX1_ENST00000429762.3_Intron|VSX1_ENST00000444511.2_Intron|VSX1_ENST00000376709.4_Intron|VSX1_ENST00000424574.1_Intron|VSX1_ENST00000451258.1_Intron	NM_199425.2	NP_955457.1	Q9NZR4	VSX1_HUMAN	visual system homeobox 1	0	CVC.				response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(3)|lung(2)	6						GCTATAGAGAAGGGACTGCTG	0.512													T	25059381	A	T	25059381	2	4	385	1	0	0	0	0	0	0	0	1	17333	59	3	5		5	VSX1	20	25059381	Silent	SNP	A	TCGA-DU-7009-01A-11D-2024-08		25059381	37966139	19	40048											
RFPL3	10738	broad.mit.edu	37	chr22	32754036	32754036	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgttctcggagtgacaaaGctggaacacaatacctctat	12	11	8	10	1	2	1	0	1	2	0	3	3	2	3	1	2	3	2	1	2	5	4	rs11089557	by1000genomes	TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chr22:32754036G>A	ENST00000249007.4	+	0	183				RFPL3_ENST00000397468.1_Intron	NM_001098535.1	NP_001092005.1	O75679	RFPL3_HUMAN	ret finger protein-like 3								zinc ion binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|stomach(1)	15						GAGTGACAAAGCTGGAACACA	0.453													A	32754036	G	A	32754036	1	1	385	1	0	0	0	0	0	0	0	0	13343	986	34	2		2	RFPL3	22	32754036	Translation_Start_Site	SNP	G	TCGA-DU-7009-01A-11D-2024-08		32754036	18550530	20	40049											
OGT	8473	broad.mit.edu	37	chrX	70793627	70793627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgattaagcctgttgaaGtcactgagtcagcataaata	15	11	8	7	0	2	3	2	3	0	0	2	3	2	3	1	0	2	2	1	0	5	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:70793627G>A	ENST00000373719.3	+	22	3341	c.3124G>A	c.(3124-3126)Gtc>Atc	p.V1042I	OGT_ENST00000373701.3_Missense_Mutation_p.V1032I	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	1042					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					GCCTGTTGAAGTCACTGAGTC	0.443													A	70793627	G	A	70793627	3	1	385	1	0	0	0	0	1	0	0	0	10923	1029	36	2	3210	2	OGT	23	70793627	Missense_Mutation	SNP	G	TCGA-DU-7009-01A-11D-2024-08		70793627	84476933	21	40050											
CUL4B	8450	broad.mit.edu	37	chrX	119708422	119708422	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccaccgtctttagaggtAgtagcctcatcatcattccc	9	12	6	14	1	5	1	4	0	1	1	6	1	6	1	4	1	1	2	4	1	3	5			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:119708422A>G	ENST00000404115.3	-	2	452	c.51T>C	c.(49-51)acT>acC	p.T17T	CUL4B_ENST00000486604.1_5'UTR	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	17	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTAGAGGTAGTAGCCTCAT	0.448													G	119708422	A	G	119708422	2	3	385	1	0	0	0	0	0	0	0	1	4091	407	15	3		3	CUL4B	23	119708422	Silent	SNP	A	TCGA-DU-7009-01A-11D-2024-08	48914795	119708422	35562138	22	40051											
GRIA3	2892	broad.mit.edu	37	chrX	122616848	122616848	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acactcagaattatgctacaTacagagaaggctacaacgtg	16	8	8	9	1	1	2	1	0	0	2	1	3	1	2	0	1	5	2	0	1	7	4			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:122616848T>A	ENST00000264357.5	+	15	2930	c.2638T>A	c.(2638-2640)Tac>Aac	p.Y880N	GRIA3_ENST00000371251.1_Missense_Mutation_p.Y880N|GRIA3_ENST00000371256.5_Missense_Mutation_p.Y880N|GRIA3_ENST00000542149.1_3'UTR	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	880					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	TTATGCTACATACAGAGAAGG	0.418													A	122616848	T	A	122616848	3	1	385	1	0	0	0	0	1	0	0	0	6824	1406	49	5	2815	5	GRIA3	23	122616848	Missense_Mutation	SNP	T	TCGA-DU-7009-01A-11D-2024-08	2908426	122616848	32653712	23	40052											
SLC9A6	10479	broad.mit.edu	37	chrX	135106545	135106545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatactgccacttatgcaCggcaaatgatgttcagcacc	12	9	9	11	1	1	2	1	1	0	1	1	3	1	2	2	1	4	4	2	1	3	3			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:135106545C>T	ENST00000370695.4	+	12	1554	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	SLC9A6_ENST00000370701.1_Missense_Mutation_p.R455W|SLC9A6_ENST00000370698.3_Missense_Mutation_p.R475W	NM_001042537.1	NP_001036002.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	475					regulation of pH	early endosome membrane|endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane|recycling endosome membrane	sodium:hydrogen antiporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					CACTTATGCACGGCAAATGAT	0.463													T	135106545	C	T	135106545	3	4	385	1	0	0	0	0	1	0	0	0	14812	527	19	1	1565	1	SLC9A6	23	135106545	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	12489697	135106545	20164015	24	40053											
AFF2	2334	broad.mit.edu	37	chrX	148037323	148037323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtcaggtcccagctgaacCcaaagaaaggcctctcctca	12	6	8	15	0	3	2	2	1	1	1	5	2	4	2	4	2	2	1	4	2	3	0			TCGA-DU-7009-01A-11D-2024-08	TCGA-DU-7009-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4853fd17-7214-4f0c-984b-1be0346ca4ab	ebcde902-4750-4e90-b94c-a635aa053ea4	g.chrX:148037323C>T	ENST00000370460.2	+	11	2227	c.1748C>T	c.(1747-1749)cCc>cTc	p.P583L	AFF2_ENST00000342251.3_Missense_Mutation_p.P550L|AFF2_ENST00000286437.5_Missense_Mutation_p.P224L|AFF2_ENST00000370457.5_Missense_Mutation_p.P550L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	583					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCTGAACCCAAAGAAAGG	0.483													T	148037323	C	T	148037323	3	4	385	1	0	0	0	0	1	0	0	0	357	623	22	2	1845	2	AFF2	23	148037323	Missense_Mutation	SNP	C	TCGA-DU-7009-01A-11D-2024-08	12930778	148037323	7233237	25	40054											
PRAMEF2	65122	broad.mit.edu	37	chr1	12918902	12918902	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagactactggagctggCggggcagagcctgctgagag	9	5	17	10	2	0	3	0	1	0	3	0	6	0	4	2	4	4	3	2	4	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:12918902C>A	ENST00000240189.2	+	2	125	c.38C>A	c.(37-39)gCg>gAg	p.A13E		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	13										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGGAGCTGGCGGGGCAGAGC	0.567													A	12918902	C	A	12918902	3	1	386	1	0	0	0	0	1	0	0	0	12518	768	27	4	40	4	PRAMEF2	1	12918902	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		12918902	236331719	1	40055											
KIAA1522	57648	broad.mit.edu	37	chr1	33236713	33236713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacccagccccctcagacCgctctgggccacagatattg	8	7	9	17	1	2	3	1	1	1	2	2	3	2	3	5	1	1	1	5	1	1	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:33236713C>T	ENST00000401073.2	+	6	2003	c.1933C>T	c.(1933-1935)Cgc>Tgc	p.R645C	KIAA1522_ENST00000373480.1_Missense_Mutation_p.R586C|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.R597C	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	586	Pro-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CCCCTCAGACCGCTCTGGGCC	0.617													T	33236713	C	T	33236713	3	4	386	1	0	0	0	0	1	0	0	0	8296	652	23	1	1955	1	KIAA1522	1	33236713	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20317811	33236713	216013908	2	40056											
MACF1	23499	broad.mit.edu	37	chr1	39815264	39815264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcagaaccacccagcaggatCtctctgctttgcagaagaac	12	7	9	13	0	2	3	0	0	2	3	3	4	2	4	2	1	5	4	2	1	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:39815264C>T	ENST00000564288.1	+	42	11707	c.10930C>T	c.(10930-10932)Ctc>Ttc	p.L3644F	MACF1_ENST00000567887.1_Missense_Mutation_p.L3681F|MACF1_ENST00000289893.4_Missense_Mutation_p.L2084F|MACF1_ENST00000545844.1_Missense_Mutation_p.L1582F|MACF1_ENST00000372915.3_Missense_Mutation_p.L3649F|MACF1_ENST00000539005.1_Missense_Mutation_p.L1582F|MACF1_ENST00000361689.2_Missense_Mutation_p.L1582F|MACF1_ENST00000317713.7_Missense_Mutation_p.L1582F|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3649					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAGCAGGATCTCTCTGCTTT	0.498													T	39815264	C	T	39815264	3	4	386	1	0	0	0	0	1	0	0	0	9215	913	32	2	11041	2	MACF1	1	39815264	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	6578551	39815264	209435357	3	40057											
ACOT11	26027	broad.mit.edu	37	chr1	55072901	55072901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaaagccccaggacttcGtgatcctggcctcgaggcgg	9	6	12	14	3	0	1	0	1	0	0	3	3	1	2	4	4	1	0	4	4	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:55072901G>A	ENST00000371316.3	+	14	1547	c.1465G>A	c.(1465-1467)Gtg>Atg	p.V489M	ACOT11_ENST00000481208.1_3'UTR|ACOT11_ENST00000343744.2_Missense_Mutation_p.V489M	NM_015547.3	NP_056362.1	Q8WXI4	ACO11_HUMAN	acyl-CoA thioesterase 11	489	START.				fatty acid metabolic process|intracellular signal transduction|response to cold		acyl-CoA thioesterase activity|carboxylesterase activity			NS(1)|central_nervous_system(1)|endometrium(6)|large_intestine(3)|lung(5)|ovary(1)	17						CCAGGACTTCGTGATCCTGGC	0.627													A	55072901	G	A	55072901	3	1	386	1	0	0	0	0	1	0	0	0	149	1145	40	1	1519	1	ACOT11	1	55072901	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	15257637	55072901	194177720	4	40058											
POLR3GL	84265	broad.mit.edu	37	chr1	145457015	145457015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgttcttcttcatcataCtcttcttcttcctcctcttc	4	21	1	15	0	9	0	3	0	6	0	12	0	11	0	2	0	1	1	2	0	1	8			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:145457015C>G	ENST00000369314.1	-	7	652	c.546G>C	c.(544-546)gaG>gaC	p.E182D	POLR3GL_ENST00000369313.3_Missense_Mutation_p.E159D	NM_032305.1	NP_115681.1	Q9BT43	RPC7L_HUMAN	polymerase (RNA) III (DNA directed) polypeptide G (32kD)-like	182	Glu-rich.									endometrium(2)|large_intestine(1)|lung(1)	4	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					cttcatcatactcttcttctt	0.478													G	145457015	C	G	145457015	3	3	386	1	0	0	0	0	1	0	0	0	12312	564	20	4	118	4	POLR3GL	1	145457015	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	90384114	145457015	103793606	5	40059											
TCHHL1	126637	broad.mit.edu	37	chr1	152060485	152060485	+	Frame_Shift_Del	DEL	A	A	-																															ctctgtgagaagctcacctgAaaaaagtccccaaactcgcc																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152060485delA	ENST00000368806.1	-	2	199	c.135delT	c.(133-135)tttfs	p.F45fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	45							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AGCTCACCTGAAAAAAGTCCC	0.453													-	152060485	A	-	152060485	7	5	386	1	0	1	0	1	0	0	0	0	15801	243	9	0	2587	0	TCHHL1	1	152060485	Frame_Shift_Del	DEL	A	TCGA-DU-7010-01A-11D-2024-08	6603470	152060485	97190136	6	40060											
FLG	2312	broad.mit.edu	37	chr1	152284454	152284454	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgagcagatccacgatGgtttctggaagcagacccag	10	8	11	12	1	1	3	0	1	1	2	3	5	3	4	3	2	2	3	3	2	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:152284454G>T	ENST00000368799.1	-	3	2943	c.2908C>A	c.(2908-2910)Cat>Aat	p.H970N	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	970	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCACGATGGTTTCTGGAA	0.582									Ichthyosis				T	152284454	G	T	152284454	3	4	386	1	0	0	0	0	1	0	0	0	5971	1348	47	4	9281	4	FLG	1	152284454	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	223969	152284454	96966167	7	40061											
BLZF1	8548	broad.mit.edu	37	chr1	169347582	169347582	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaggtaaatcgtgagttAaaaaagttactggtggcttc	12	14	10	5	1	1	1	0	1	1	0	3	1	1	1	0	3	1	4	0	3	7	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:169347582A>G	ENST00000367808.3	+	4	906	c.483A>G	c.(481-483)ttA>ttG	p.L161L	BLZF1_ENST00000329281.2_Silent_p.L161L			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	161					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					ATCGTGAGTTAAAAAAGTTAC	0.343													G	169347582	A	G	169347582	2	3	386	1	0	0	0	0	0	0	0	1	1459	359	13	3		3	BLZF1	1	169347582	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	17063128	169347582	79903039	8	40062											
CACNA1E	777	broad.mit.edu	37	chr1	181684510	181684510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaagaaaataaaaatgctgGaacatccgccttagaaggta	18	8	9	6	1	0	3	0	1	0	2	1	4	1	4	2	2	2	2	2	2	10	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:181684510G>A	ENST00000526775.1	+	9	1373	c.1208G>A	c.(1207-1209)gGa>gAa	p.G403E	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G10E|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G403E|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G403E|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G354E|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G403E	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	403					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						AAAAATGCTGGAACATCCGCC	0.373													A	181684510	G	A	181684510	3	1	386	1	0	0	0	0	1	0	0	0	2568	1174	41	2	1242	2	CACNA1E	1	181684510	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	12336928	181684510	67566111	9	40063											
PLA2G4A	5321	broad.mit.edu	37	chr1	186934577	186934577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgaatatatgagcctctggAtgtcaaaagtaaaaagattc	16	10	9	6	1	2	2	1	1	1	1	3	4	2	3	1	1	1	1	1	1	8	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:186934577A>G	ENST00000367466.3	+	15	1768	c.1616A>G	c.(1615-1617)gAt>gGt	p.D539G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.D479G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	539	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GAGCCTCTGGATGTCAAAAGT	0.353													G	186934577	A	G	186934577	3	3	386	1	0	0	0	0	1	0	0	0	12078	333	12	3	1670	3	PLA2G4A	1	186934577	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	5250067	186934577	62316044	10	40064											
IKBKE	9641	broad.mit.edu	37	chr1	206649566	206649566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaacggcattgtgcatcGcgacatcaagccggggaaca	12	5	14	10	4	1	1	1	0	0	1	2	4	1	2	1	4	4	2	1	4	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:206649566G>A	ENST00000367120.3	+	6	774	c.401G>A	c.(400-402)cGc>cAc	p.R134H	IKBKE_ENST00000537984.1_Missense_Mutation_p.R49H	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	134	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					ATTGTGCATCGCGACATCAAG	0.622													A	206649566	G	A	206649566	3	1	386	1	0	0	0	0	1	0	0	0	7670	1087	38	1	415	1	IKBKE	1	206649566	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	19714989	206649566	42601055	11	40065											
OR2M5	127059	broad.mit.edu	37	chr1	248309136	248309136	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtcattcacatgggAtctggagagggtcgtcgcaa	8	10	14	9	2	3	1	2	0	1	1	5	3	3	2	0	4	0	2	0	4	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248309136A>T	ENST00000366476.1	+	1	687	c.687A>T	c.(685-687)ggA>ggT	p.G229G		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	229					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCACATGGGATCTGGAGAGG	0.443													T	248309136	A	T	248309136	2	4	386	1	0	0	0	0	0	0	0	1	11089	320	12	5		5	OR2M5	1	248309136	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	41659570	248309136	941485	12	40066											
OR2T4	127074	broad.mit.edu	37	chr1	248525025	248525025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcggatttcatcctgttggGactcttcagacaatccaaac	10	12	8	11	1	3	1	2	0	1	1	6	3	5	3	2	2	1	1	2	2	2	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr1:248525025G>T	ENST00000366475.1	+	1	143	c.143G>T	c.(142-144)gGa>gTa	p.G48V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ATCCTGTTGGGACTCTTCAGA	0.458													T	248525025	G	T	248525025	3	4	386	1	0	0	0	0	1	0	0	0	11103	1174	41	4	145	4	OR2T4	1	248525025	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	215889	248525025	725596	13	40067											
CCT7	10574	broad.mit.edu	37	chr2	73466844	73466844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttgtgagtaacatcaGtgcctgccaggtgattgctg	8	11	12	10	0	1	2	1	2	0	0	1	2	1	2	3	1	5	3	3	1	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:73466844G>A	ENST00000258091.5	+	2	221	c.80G>A	c.(79-81)aGt>aAt	p.S27N	CCT7_ENST00000473786.1_Intron|CCT7_ENST00000537131.1_5'UTR|CCT7_ENST00000540468.1_Intron|CCT7_ENST00000398422.2_Intron|CCT7_ENST00000538797.1_5'UTR|CCT7_ENST00000539919.1_5'UTR	NM_006429.3	NP_006420.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	27					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						AGTAACATCAGTGCCTGCCAG	0.488													A	73466844	G	A	73466844	3	1	386	1	0	0	0	0	1	0	0	0	2989	1029	36	2	86	2	CCT7	2	73466844	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		73466844	169732529	14	40068											
EDAR	10913	broad.mit.edu	37	chr2	109546658	109546658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtactcgttctcaccgCagtttgagtattccgctcgg	6	14	10	11	4	1	1	1	1	1	0	5	1	2	1	2	1	1	7	2	1	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:109546658C>T	ENST00000409271.1	-	4	535	c.92G>A	c.(91-93)tGc>tAc	p.C31Y	EDAR_ENST00000376651.1_Missense_Mutation_p.C31Y|EDAR_ENST00000258443.2_Missense_Mutation_p.C31Y			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	31					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTTCTCACCGCAGTTTGAGTA	0.602													T	109546658	C	T	109546658	3	4	386	1	0	0	0	0	1	0	0	0	4944	710	25	2	1294	2	EDAR	2	109546658	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	36079814	109546658	133652715	15	40069											
CCDC148	130940	broad.mit.edu	37	chr2	159201746	159201746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgacttcattcagcctctGgtattcctgccaccacactt	7	13	5	16	0	3	1	2	1	1	0	4	1	4	1	5	1	2	1	5	1	1	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:159201746G>C	ENST00000283233.5	-	3	545	c.232C>G	c.(232-234)Cag>Gag	p.Q78E	CCDC148_ENST00000409187.1_Missense_Mutation_p.Q87E|CCDC148_ENST00000409889.1_Missense_Mutation_p.Q78E|CCDC148_ENST00000536771.1_Intron	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	78										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TTCAGCCTCTGGTATTCCTGC	0.383													C	159201746	G	C	159201746	3	2	386	1	0	0	0	0	1	0	0	0	2808	1357	47	4	1643	4	CCDC148	2	159201746	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	49655088	159201746	83997627	16	40070											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	386	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	49911366	209113112	34086261	17	40071											
SLC4A3	6508	broad.mit.edu	37	chr2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagctgatgctggaccGcagccaggagccccactggc	9	4	14	14	2	0	1	0	1	0	0	0	5	0	3	4	3	5	3	4	3	1	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H|SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667													A	220497018	G	A	220497018	3	1	386	1	0	0	0	0	1	0	0	0	14749	1087	38	1	1102	1	SLC4A3	2	220497018	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	11383906	220497018	22702355	18	40072											
BRPF1	7862	broad.mit.edu	37	chr3	9781283	9781283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaggggcctgcatccagtgCcacaaggccaactgttacac	10	7	10	14	0	1	0	1	0	0	0	2	0	2	0	4	3	4	2	4	3	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:9781283C>T	ENST00000383829.2	+	3	1604	c.1200C>T	c.(1198-1200)tgC>tgT	p.C400C	BRPF1_ENST00000433861.2_Silent_p.C400C|BRPF1_ENST00000424362.1_Silent_p.C400C|BRPF1_ENST00000302054.3_Silent_p.C400C|BRPF1_ENST00000457855.1_Silent_p.C400C	NM_001003694.1	NP_001003694.1	P55201	BRPF1_HUMAN	bromodomain and PHD finger containing, 1	400					histone H3 acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|MOZ/MORF histone acetyltransferase complex|plasma membrane	DNA binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(15)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	49	Medulloblastoma(99;0.227)					GCATCCAGTGCCACAAGGCCA	0.572													T	9781283	C	T	9781283	2	4	386	1	0	0	0	0	0	0	0	1	1529	747	26	2		2	BRPF1	3	9781283	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08		9781283	188241147	19	40073											
SACM1L	22908	broad.mit.edu	37	chr3	45744968	45744968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttatgtggaagcttgtgAtgatggagcagatgacgtac	11	13	13	4	1	0	4	0	3	0	1	0	6	0	6	0	2	3	3	0	2	3	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:45744968A>G	ENST00000389061.5	+	2	275	c.71A>G	c.(70-72)gAt>gGt	p.D24G	SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_5'UTR|SACM1L_ENST00000541314.1_Missense_Mutation_p.M6V	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	24						Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GAAGCTTGTGATGATGGAGCA	0.358													G	45744968	A	G	45744968	3	3	386	1	0	0	0	0	1	0	0	0	13894	333	12	3	77	3	SACM1L	3	45744968	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	35963685	45744968	152277462	20	40074											
PARL	55486	broad.mit.edu	37	chr3	183580581	183580581	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttaggttattccaccaCttgttaatctaaaacagaca	14	13	4	10	0	2	1	1	0	1	1	3	1	3	1	2	1	1	2	2	1	5	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr3:183580581C>T	ENST00000317096.4	-	4	531	c.471G>A	c.(469-471)aaG>aaA	p.K157K	PARL_ENST00000311101.5_Silent_p.K157K|PARL_ENST00000435888.1_Silent_p.K157K	NM_018622.5	NP_061092.3	Q9H300	PARL_HUMAN	presenilin associated, rhomboid-like	157					proteolysis	integral to membrane|mitochondrial inner membrane|nucleus	serine-type endopeptidase activity			endometrium(2)|large_intestine(3)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	17	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.21e-41)|Epithelial(37;1.34e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			TATTCCACCACTTGTTAATCT	0.393													T	183580581	C	T	183580581	2	4	386	1	0	0	0	0	0	0	0	1	11527	564	20	2		2	PARL	3	183580581	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	137835613	183580581	14441849	21	40075											
GAK	2580	broad.mit.edu	37	chr4	861174	861174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccatcagggcagactcgctCtccttggaagaggcattttc	8	11	10	12	1	2	2	1	0	1	2	6	3	3	3	2	3	0	3	2	3	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:861174C>G	ENST00000314167.4	-	21	2552	c.2442G>C	c.(2440-2442)gaG>gaC	p.E814D	GAK_ENST00000509566.1_5'UTR|GAK_ENST00000511163.1_Missense_Mutation_p.E735D	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase	814					cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		CAGACTCGCTCTCCTTGGAAG	0.587													G	861174	C	G	861174	3	3	386	1	0	0	0	0	1	0	0	0	6249	912	32	4	1525	4	GAK	4	861174	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		861174	190293102	22	40076											
PPP2R2C	5522	broad.mit.edu	37	chr4	6325273	6325273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacgtcccgcttggtgttcCgatcgaacatgcggaagaag	9	9	12	11	5	1	1	1	0	0	1	4	4	3	2	2	2	2	2	2	2	3	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:6325273C>T	ENST00000335585.5	-	9	1123	c.1100G>A	c.(1099-1101)cGg>cAg	p.R367Q	PPP2R2C_ENST00000506140.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000382599.4_Missense_Mutation_p.R367Q|PPP2R2C_ENST00000507294.1_Missense_Mutation_p.R360Q|PPP2R2C_ENST00000515571.1_Missense_Mutation_p.R350Q	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	367					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						CTTGGTGTTCCGATCGAACAT	0.642													T	6325273	C	T	6325273	3	4	386	1	0	0	0	0	1	0	0	0	12468	652	23	1	247	1	PPP2R2C	4	6325273	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	5464099	6325273	184829003	23	40077											
ARAP2	116984	broad.mit.edu	37	chr4	36126576	36126576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttttaattctttccttGtcatcttgcgtatctgaagg	7	21	6	7	1	4	1	1	1	3	0	5	1	5	1	1	1	1	1	1	1	4	9			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:36126576G>T	ENST00000303965.4	-	22	4143	c.3654C>A	c.(3652-3654)gaC>gaA	p.D1218E		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1218	Rho-GAP.				regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TTCTTTCCTTGTCATCTTGCG	0.368													T	36126576	G	T	36126576	3	4	386	1	0	0	0	0	1	0	0	0	842	1368	48	4	1508	4	ARAP2	4	36126576	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	29801303	36126576	155027700	24	40078											
TLR10	81793	broad.mit.edu	37	chr4	38776590	38776590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtcttgattccatcacGcaaaagaacccagaaatttg	15	10	7	9	1	2	4	1	2	1	2	3	4	3	4	2	0	1	1	2	0	5	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:38776590G>A	ENST00000308973.4	-	4	1227	c.622C>T	c.(622-624)Cgt>Tgt	p.R208C	TLR10_ENST00000508334.1_Missense_Mutation_p.R208C|TLR10_ENST00000506111.1_Missense_Mutation_p.R208C|TLR10_ENST00000361424.2_Missense_Mutation_p.R208C	NM_001017388.2|NM_001195107.1|NM_030956.3	NP_001017388.1|NP_001182036.1|NP_112218.2	Q9BXR5	TLR10_HUMAN	toll-like receptor 10	208					inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane	transmembrane receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(2)	25						ATTCCATCACGCAAAAGAACC	0.338													A	38776590	G	A	38776590	3	1	386	1	0	0	0	0	1	0	0	0	16050	1087	38	1	1817	1	TLR10	4	38776590	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	2650014	38776590	152377686	25	40079											
TBCK	93627	broad.mit.edu	37	chr4	106967769	106967769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaggaggcctgttggcttTattttattaatgccaccatc	8	15	10	8	0	0	1	0	1	0	0	1	2	0	2	3	3	1	2	3	3	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr4:106967769T>C	ENST00000273980.5	-	27	3087	c.2640A>G	c.(2638-2640)atA>atG	p.I880M	TBCK_ENST00000394708.2_Missense_Mutation_p.I880M|TBCK_ENST00000432496.2_Missense_Mutation_p.I880M|TBCK_ENST00000394706.3_Missense_Mutation_p.I841M|TBCK_ENST00000361687.4_Missense_Mutation_p.I817M			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Rhodanese.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						CTGTTGGCTTTATTTTATTAA	0.408													C	106967769	T	C	106967769	3	2	386	1	0	0	0	0	1	0	0	0	15736	1744	61	3	45	3	TBCK	4	106967769	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	68191179	106967769	84186507	26	40080											
CLPTM1L	81037	broad.mit.edu	37	chr5	1330403	1330403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaactcacctcaatggCggctccaacacccgccggga	9	4	10	18	4	2	0	2	0	0	0	3	2	3	2	5	4	2	1	5	4	3	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:1330403C>T	ENST00000320895.5	-	9	1329	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	CLPTM1L_ENST00000320927.6_Intron|CLPTM1L_ENST00000507807.1_Intron	NM_030782.3	NP_110409.2	Q96KA5	CLP1L_HUMAN	CLPTM1-like	358					apoptosis	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24	Lung NSC(6;5.78e-14)|all_lung(6;4.47e-13)|all_epithelial(6;4.47e-09)		Epithelial(17;0.00931)|OV - Ovarian serous cystadenocarcinoma(19;0.0116)|all cancers(22;0.0181)	KIRC - Kidney renal clear cell carcinoma(5;0.177)|Kidney(13;0.208)		ACCTCAATGGCGGCTCCAACA	0.622													T	1330403	C	T	1330403	3	4	386	1	0	0	0	0	1	0	0	0	3586	768	27	1	580	1	CLPTM1L	5	1330403	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		1330403	179584857	27	40081											
CDH12	1010	broad.mit.edu	37	chr5	21817163	21817163	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatttctgcattttgtccaAaatcaggatccacagctctt	11	14	5	11	0	3	0	1	0	2	0	5	1	5	1	2	1	2	2	2	1	3	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:21817163A>C	ENST00000382254.1	-	9	1979	c.893T>G	c.(892-894)tTt>tGt	p.F298C	CDH12_ENST00000504376.2_Missense_Mutation_p.F298C|CDH12_ENST00000522262.1_Missense_Mutation_p.F258C|CDH12_ENST00000521384.1_5'UTR	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	298	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						ATTTTGTCCAAAATCAGGATC	0.388										HNSCC(59;0.17)			C	21817163	A	C	21817163	3	2	386	1	0	0	0	0	1	0	0	0	3128	14	1	5	1519	5	CDH12	5	21817163	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	20486760	21817163	159098097	28	40082											
APC	324	broad.mit.edu	37	chr5	112176714	112176714	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagagagttttctcagacaAcaaagattcaaagaaacaga	19	8	8	6	0	2	6	2	1	1	5	3	7	2	6	0	0	2	1	0	0	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:112176714A>C	ENST00000457016.1	+	16	5803	c.5423A>C	c.(5422-5424)aAc>aCc	p.N1808T	APC_ENST00000508376.2_Missense_Mutation_p.N1808T|CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.N1808T			P25054	APC_HUMAN	adenomatous polyposis coli	1808	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTCAGACAACAAAGATTCA	0.313		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			C	112176714	A	C	112176714	3	2	386	1	0	0	0	0	1	0	0	0	765	43	2	5	5481	5	APC	5	112176714	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	90359551	112176714	68738546	29	40083											
FBN2	2201	broad.mit.edu	37	chr5	127730892	127730892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcacagcagcactgcattTtcgtcattctccccgggagc	7	10	9	15	2	3	0	2	0	1	0	5	1	3	1	2	1	4	4	2	1	0	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:127730892T>G	ENST00000508053.1	-	15	2128	c.1154A>C	c.(1153-1155)aAa>aCa	p.K385T	FBN2_ENST00000262464.4_Missense_Mutation_p.K385T|FBN2_ENST00000508989.1_Missense_Mutation_p.K352T			P35556	FBN2_HUMAN	fibrillin 2	385	TB 2.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCACTGCATTTTCGTCATTCT	0.547													G	127730892	T	G	127730892	3	3	386	1	0	0	0	0	1	0	0	0	5752	1841	64	5	7812	5	FBN2	5	127730892	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	15554178	127730892	53184368	30	40084											
SQSTM1	8878	broad.mit.edu	37	chr5	179247941	179247941	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcgccgctcgctatggCgtcgctcaccgtgaaggcct	5	8	12	16	6	1	1	1	1	0	0	4	1	1	1	3	2	1	4	3	2	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:179247941C>T	ENST00000389805.4	+	1	183	c.5C>T	c.(4-6)gCg>gTg	p.A2V	SQSTM1_ENST00000402874.3_5'UTR|SQSTM1_ENST00000510187.1_Missense_Mutation_p.A2V|SQSTM1_ENST00000376929.3_Intron	NM_003900.4	NP_003891.1	Q13501	SQSTM_HUMAN	sequestosome 1	2	Interaction with LCK.				anti-apoptosis|apoptosis|cell differentiation|endosome transport|induction of apoptosis by extracellular signals|intracellular signal transduction|macroautophagy|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein localization|regulation of I-kappaB kinase/NF-kappaB cascade|ubiquitin-dependent protein catabolic process	cytosol|late endosome|nucleoplasm	protein kinase C binding|receptor tyrosine kinase binding|SH2 domain binding|ubiquitin binding|zinc ion binding		SQSTM1/ALK(2)	NS(1)|breast(1)|endometrium(1)|large_intestine(2)|liver(2)|lung(5)|ovary(1)	13	all_cancers(89;0.000205)|all_epithelial(37;7.15e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0395)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTCGCTATGGCGTCGCTCACC	0.716													T	179247941	C	T	179247941	3	4	386	1	0	0	0	0	1	0	0	0	15226	768	27	1	7	1	SQSTM1	5	179247941	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	51517049	179247941	1667319	31	40085											
FLT4	2324	broad.mit.edu	37	chr5	180043382	180043382	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacactgcccttgcggacGtagtcggggtctttgtagat	6	12	12	11	3	2	1	1	0	1	1	3	2	2	2	1	3	2	2	1	3	2	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr5:180043382G>A	ENST00000261937.6	-	23	3282	c.3204C>T	c.(3202-3204)taC>taT	p.Y1068Y	FLT4_ENST00000393347.3_Silent_p.Y1068Y|FLT4_ENST00000502649.1_Silent_p.Y1068Y	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1068	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCTTGCGGACGTAGTCGGGGT	0.597													A	180043382	G	A	180043382	2	1	386	1	0	0	0	0	0	0	0	1	5993	1140	40	1		1	FLT4	5	180043382	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	795441	180043382	871878	32	40086											
DNAH8	1769	broad.mit.edu	37	chr6	38690922	38690922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaggtcctccagatacCgccggagtatgagtggcctt	7	8	13	13	3	0	2	0	1	0	1	2	4	2	4	6	4	1	1	6	4	2	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:38690922C>T	ENST00000449981.2	+	2	446	c.337C>T	c.(337-339)Cgc>Tgc	p.R113C	DNAH8_ENST00000359357.3_5'UTR					dynein, axonemal, heavy chain 8									p.R113C(1)		NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CTCCAGATACCGCCGGAGTAT	0.488													T	38690922	C	T	38690922	3	4	386	1	0	0	0	0	1	0	0	0	4646	667	23	1		1	DNAH8	6	38690922	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		38690922	132424145	33	40087											
LPA	4018	broad.mit.edu	37	chr6	161027642	161027642	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatccctcgtataacaataAggggctgccacaggatctgg	11	8	12	10	1	1	0	0	0	1	0	3	2	2	2	2	5	2	2	2	5	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr6:161027642A>G	ENST00000447678.1	-	18	2772	c.2652T>C	c.(2650-2652)ccT>ccC	p.P884P	LPA_ENST00000316300.5_Silent_p.P884P	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3392	Kringle 8.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TATAACAATAAGGGGCTGCCA	0.522													G	161027642	A	G	161027642	2	3	386	1	0	0	0	0	0	0	0	1	8973	59	3	3		3	LPA	6	161027642	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	122336720	161027642	10087425	34	40088											
CYTH3	9265	broad.mit.edu	37	chr7	6217518	6217518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctttataaaggaactgggCgacgtcttctggggaactct	9	12	11	9	2	3	0	0	0	3	0	4	3	4	2	1	4	2	0	1	4	5	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:6217518C>T	ENST00000350796.3	-	5	440	c.304G>A	c.(304-306)Gcc>Acc	p.A102T		NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	102	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|membrane fraction|plasma membrane	1-phosphatidylinositol binding|ARF guanyl-nucleotide exchange factor activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						AGGAACTGGGCGACGTCTTCT	0.463													T	6217518	C	T	6217518	3	4	386	1	0	0	0	0	1	0	0	0	4238	768	27	1	931	1	CYTH3	7	6217518	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		6217518	152921145	35	40089											
MEOX2	4223	broad.mit.edu	37	chr7	15652021	15652021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtttatatcataagtgCgcatgctctgagctgtggtc	7	15	10	9	1	3	1	1	1	2	0	4	1	3	1	0	1	3	4	0	1	3	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:15652021C>T	ENST00000262041.5	-	3	1315	c.906G>A	c.(904-906)gcG>gcA	p.A302A		NM_005924.4	NP_005915.2	P50222	MEOX2_HUMAN	mesenchyme homeobox 2	302					blood circulation|multicellular organismal development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.A302A(2)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24				UCEC - Uterine corpus endometrioid carcinoma (126;0.0822)		ATCATAAGTGCGCATGCTCTG	0.478													T	15652021	C	T	15652021	2	4	386	1	0	0	0	0	0	0	0	1	9549	755	27	1		1	MEOX2	7	15652021	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	9434503	15652021	143486642	36	40090											
TTC26	79989	broad.mit.edu	37	chr7	138863316	138863316	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgcccaagccaaagctgCaacaggcaataccagtgagg	14	6	10	11	0	0	1	0	1	0	0	0	1	0	1	3	2	6	3	3	2	6	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:138863316C>G	ENST00000464848.1	+	14	1294	c.1214C>G	c.(1213-1215)gCa>gGa	p.A405G	TTC26_ENST00000478836.2_Missense_Mutation_p.A298G|TTC26_ENST00000343187.4_Missense_Mutation_p.A374G|TTC26_ENST00000430935.1_Missense_Mutation_p.A405G|TTC26_ENST00000495038.1_Missense_Mutation_p.A274G			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	405							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GCCAAAGCTGCAACAGGCAAT	0.368													G	138863316	C	G	138863316	3	3	386	1	0	0	0	0	1	0	0	0	16796	710	25	4	1268	4	TTC26	7	138863316	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	123211295	138863316	20275347	37	40091											
SSPO	23145	broad.mit.edu	37	chr7	149474867	149474867	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgctgcacctacctgctggcGggtgctgcggactccacctg	4	8	13	16	3	0	0	0	0	0	0	1	1	1	1	4	3	5	4	4	3	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr7:149474867G>A	ENST00000378016.2	+	0	666							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACCTGCTGGCGGGTGCTGCGG	0.682													A	149474867	G	A	149474867	1	1	386	0	1	0	0	0	0	0	0	0	15285	1103	39	1		1	SSPO	7	149474867	RNA	SNP	G	TCGA-DU-7010-01A-11D-2024-08	10611551	149474867	9663796	38	40092											
MTMR7	9108	broad.mit.edu	37	chr8	17218649	17218649	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtctctattcacatcgcTgagctgccagtaatgattag	10	13	9	9	1	2	2	1	2	1	0	4	2	2	2	1	0	2	4	1	0	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:17218649T>A	ENST00000180173.5	-	4	479	c.445A>T	c.(445-447)Agc>Tgc	p.S149C	MTMR7_ENST00000521857.1_Missense_Mutation_p.S149C	NM_004686.4	NP_004677.3	Q9Y216	MTMR7_HUMAN	myotubularin related protein 7	149	Myotubularin phosphatase.						protein tyrosine phosphatase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(8)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	32				Colorectal(111;0.112)		TTCACATCGCTGAGCTGCCAG	0.473													A	17218649	T	A	17218649	3	1	386	1	0	0	0	0	1	0	0	0	10024	1580	55	5	1581	5	MTMR7	8	17218649	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		17218649	129145373	39	40093											
ADAM2	2515	broad.mit.edu	37	chr8	39695695	39695695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgagcagaaacaagaCgcgccacatggcttgaagtc	12	5	11	13	3	0	4	0	2	0	2	1	4	0	4	2	1	2	3	2	1	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:39695695C>T	ENST00000265708.4	-	1	113	c.10G>A	c.(10-12)Gtc>Atc	p.V4I	ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.V4I|ADAM2_ENST00000521880.1_Missense_Mutation_p.V4I|ADAM2_ENST00000347580.4_Missense_Mutation_p.V4I	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	4					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AGAAACAAGACGCGCCACATG	0.612													T	39695695	C	T	39695695	3	4	386	1	0	0	0	0	1	0	0	0	241	536	19	1	2277	1	ADAM2	8	39695695	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	22477046	39695695	106668327	40	40094											
OC90	729330	broad.mit.edu	37	chr8	133044199	133044199	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccataagactcaaattcctcCgggcaccgggatgtcagaca	12	7	9	13	2	2	2	2	0	0	2	4	3	4	3	4	2	0	1	4	2	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:133044199C>T	ENST00000262283.5	-	16	1695	c.1596G>A	c.(1594-1596)ccG>ccA	p.P532P	OC90_ENST00000443356.2_Silent_p.P336P|OC90_ENST00000603859.1_Silent_p.P320P|OC90_ENST00000254627.3_Silent_p.P320P			Q02509	OC90_HUMAN	otoconin 90	336					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			CAAATTCCTCCGGGCACCGGG	0.547													T	133044199	C	T	133044199	2	4	386	1	0	0	0	0	0	0	0	1	10890	639	23	1		1	OC90	8	133044199	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	93348504	133044199	13319823	41	40095											
GSDMD	79792	broad.mit.edu	37	chr8	144641509	144641509	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcccctcctcaggagcatgGggtcggcctttgagcgggta	5	10	14	12	2	1	1	1	1	0	0	4	2	3	2	4	5	2	2	4	5	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr8:144641509G>T	ENST00000526406.1	+	5	887	c.4G>T	c.(4-6)Ggg>Tgg	p.G2W	GSDMD_ENST00000262580.4_Missense_Mutation_p.G2W|GSDMD_ENST00000533063.1_Missense_Mutation_p.G50W	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	2										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						CAGGAGCATGGGGTCGGCCTT	0.627													T	144641509	G	T	144641509	3	4	386	1	0	0	0	0	1	0	0	0	6874	1232	43	4	6	4	GSDMD	8	144641509	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	11597310	144641509	1722513	42	40096											
MPDZ	8777	broad.mit.edu	37	chr9	13138059	13138059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctggatcggtctttgttcCcagcaagacttaggcccaaa	9	11	9	12	1	1	1	0	0	1	1	4	2	3	2	3	3	1	2	3	3	3	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138059C>T	ENST00000319217.7	-	29	4344	c.4097G>A	c.(4096-4098)gGg>gAg	p.G1366E	MPDZ_ENST00000447879.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1380E|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1333E|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1366E|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1366E|MPDZ_ENST00000538841.1_Missense_Mutation_p.G225E|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1366E	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1366	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GTCTTTGTTCCCAGCAAGACT	0.448													T	13138059	C	T	13138059	3	4	386	1	0	0	0	0	1	0	0	0	9798	623	22	2	2100	2	MPDZ	9	13138059	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		13138059	128075372	43	40097			1	48		2	2	22	C		7.461753e-05
MPDZ	8777	broad.mit.edu	37	chr9	13138080	13138080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcaagacttaggcccaaaCcactatgacctttctccagt	12	9	6	14	0	1	2	0	1	1	1	2	2	1	2	4	1	2	1	4	1	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:13138080C>G	ENST00000319217.7	-	29	4323	c.4076G>C	c.(4075-4077)gGt>gCt	p.G1359A	MPDZ_ENST00000447879.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000546205.1_Missense_Mutation_p.G1373A|MPDZ_ENST00000540202.1_5'UTR|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1326A|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1359A|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1359A|MPDZ_ENST00000538841.1_Missense_Mutation_p.G218A|MPDZ_ENST00000381015.4_Missense_Mutation_p.G1359A	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	1359	PDZ 8.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TAGGCCCAAACCACTATGACC	0.438													G	13138080	C	G	13138080	3	3	386	1	0	0	0	0	1	0	0	0	9798	507	18	4	2121	4	MPDZ	9	13138080	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	21	13138080	128075351	44	40098			1	48		2	2	22	C		7.461753e-05
IFNA5	3442	broad.mit.edu	37	chr9	21304957	21304957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctagaagtgtctcatccCaagtagcagatgagtccttt	10	13	9	9	0	2	3	1	1	2	2	5	3	4	3	2	0	1	2	2	0	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:21304957C>A	ENST00000259555.4	-	1	355	c.299G>T	c.(298-300)tGg>tTg	p.W100L		NM_002169.2	NP_002160.1	P01569	IFNA5_HUMAN	interferon, alpha 5	100					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	7				Lung(24;2.34e-24)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TGTCTCATCCCAAGTAGCAGA	0.483													A	21304957	C	A	21304957	3	1	386	1	0	0	0	0	1	0	0	0	7598	595	21	4	274	4	IFNA5	9	21304957	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	8166877	21304957	119908474	45	40099											
TAF1L	138474	broad.mit.edu	37	chr9	32634394	32634394	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcattctagattttatcAcaggttcatgttgtgtcttt	8	19	6	8	0	5	1	3	0	2	1	5	1	5	1	1	1	0	2	1	1	2	7			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:32634394A>G	ENST00000242310.4	-	1	1273	c.1184T>C	c.(1183-1185)gTg>gCg	p.V395A	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	395					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGATTTTATCACAGGTTCATG	0.458													G	32634394	A	G	32634394	3	3	386	1	0	0	0	0	1	0	0	0	15620	159	6	3	4300	3	TAF1L	9	32634394	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	11329437	32634394	108579037	46	40100											
NUP188	23511	broad.mit.edu	37	chr9	131745580	131745580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccaaccaggttaacgaCagtgatctccccacctgtgg	9	10	8	14	1	2	1	0	1	2	0	4	2	2	1	5	2	2	1	5	2	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:131745580C>T	ENST00000372577.2	+	18	1826	c.1805C>T	c.(1804-1806)aCa>aTa	p.T602I		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	602					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						AGGTTAACGACAGTGATCTCC	0.448													T	131745580	C	T	131745580	3	4	386	1	0	0	0	0	1	0	0	0	10834	478	17	2	1875	2	NUP188	9	131745580	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	99111186	131745580	9467851	47	40101											
USP20	10868	broad.mit.edu	37	chr9	132631651	132631651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaccgcagcgtcatctcaGacatctttgacggctccatt	8	11	8	14	3	3	2	2	1	2	1	5	2	4	2	2	1	2	3	2	1	1	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr9:132631651G>T	ENST00000315480.4	+	13	1497	c.1339G>T	c.(1339-1341)Gac>Tac	p.D447Y	USP20_ENST00000358355.1_Missense_Mutation_p.D447Y|USP20_ENST00000372429.3_Missense_Mutation_p.D447Y			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	447					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CGTCATCTCAGACATCTTTGA	0.652													T	132631651	G	T	132631651	3	4	386	1	0	0	0	0	1	0	0	0	17154	942	33	4	1381	4	USP20	9	132631651	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	886071	132631651	8581780	48	40102											
ANKRD26	22852	broad.mit.edu	37	chr10	27322258	27322258	+	Frame_Shift_Del	DEL	G	G	-																															tgaagcctctgacatagattGtttttttagggtatcagcta																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:27322258delG	ENST00000376087.4	-	25	3868	c.3703delC	c.(3703-3705)caafs	p.Q1235fs	ANKRD26_ENST00000376070.3_Frame_Shift_Del_p.Q792fs|ANKRD26_ENST00000436985.2_Frame_Shift_Del_p.Q1251fs	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	1234						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						GACATAGATTGTTTTTTTAGG	0.318													-	27322258	G	-	27322258	7	5	386	1	0	1	0	1	0	0	0	0	654	1386	48	0	1469	0	ANKRD26	10	27322258	Frame_Shift_Del	DEL	G	TCGA-DU-7010-01A-11D-2024-08		27322258	108212489	49	40103											
PLAU	5328	broad.mit.edu	37	chr10	75675025	75675025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagccgactatctctatccGgagcagctgaaaatgactgt	11	10	9	11	2	1	2	0	2	1	0	3	4	2	3	2	1	3	2	2	1	5	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:75675025G>A	ENST00000446342.1	+	9	1418	c.936G>A	c.(934-936)ccG>ccA	p.P312P	PLAU_ENST00000372764.3_Silent_p.P329P|C10orf55_ENST00000412307.2_Intron|PLAU_ENST00000372762.4_Silent_p.P293P|C10orf55_ENST00000409178.1_Intron	NM_001145031.1	NP_001138503	P00749	UROK_HUMAN	plasminogen activator, urokinase	329	Peptidase S1.				blood coagulation|chemotaxis|fibrinolysis|proteolysis|regulation of cell adhesion mediated by integrin|regulation of receptor activity|regulation of smooth muscle cell migration|regulation of smooth muscle cell-matrix adhesion|signal transduction	cell surface|extracellular space|plasma membrane	serine-type endopeptidase activity			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(3)|ovary(2)	16	Prostate(51;0.0112)				Amiloride(DB00594)|Urokinase(DB00013)	ATCTCTATCCGGAGCAGCTGA	0.512													A	75675025	G	A	75675025	2	1	386	1	0	0	0	0	0	0	0	1	12099	1103	39	1		1	PLAU	10	75675025	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	48352767	75675025	59859722	50	40104											
GPAM	57678	broad.mit.edu	37	chr10	113919721	113919721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacaggctggccgccttcCgcaccagctgctcctggctg	5	7	12	17	2	0	0	0	0	0	0	2	0	2	0	5	3	3	6	5	3	0	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:113919721C>T	ENST00000348367.4	-	17	2047	c.1850G>A	c.(1849-1851)cGg>cAg	p.R617Q	GPAM_ENST00000369425.1_Missense_Mutation_p.R617Q|GPAM_ENST00000423155.1_Missense_Mutation_p.R617Q			Q9HCL2	GPAT1_HUMAN	glycerol-3-phosphate acyltransferase, mitochondrial	617					phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			breast(2)|central_nervous_system(2)|endometrium(8)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31				Epithelial(162;0.0306)|all cancers(201;0.123)		GGCCGCCTTCCGCACCAGCTG	0.547													T	113919721	C	T	113919721	3	4	386	1	0	0	0	0	1	0	0	0	6642	652	23	1	660	1	GPAM	10	113919721	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	38244696	113919721	21615026	51	40105											
DMBT1	1755	broad.mit.edu	37	chr10	124357525	124357525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaccttgcctgcatcgacaGtaggtaaatattcctctcgc	9	12	7	13	2	2	0	1	0	1	0	5	1	3	0	3	1	2	3	3	1	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr10:124357525G>A	ENST00000368909.3	+	25	3059	c.2953G>A	c.(2953-2955)Gta>Ata	p.V985I	DMBT1_ENST00000368955.3_Missense_Mutation_p.V975I|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000330163.4_Missense_Mutation_p.V486I|DMBT1_ENST00000338354.3_Missense_Mutation_p.V985I|DMBT1_ENST00000368956.2_Missense_Mutation_p.V486I|DMBT1_ENST00000344338.3_Missense_Mutation_p.V975I	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	985					epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGCATCGACAGTAGGTAAATA	0.463													A	124357525	G	A	124357525	3	1	386	1	0	0	0	0	1	0	0	0	4616	1029	36	2	3051	2	DMBT1	10	124357525	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	10437804	124357525	11177222	52	40106											
OR2AG2	338755	broad.mit.edu	37	chr11	6789861	6789861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagtaggaggtcctcagCgctacccattgtcagtgcca	8	8	12	13	1	2	0	2	0	0	0	3	1	3	1	4	3	3	2	4	3	2	3	rs146279135	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:6789861C>T	ENST00000338569.2	-	1	425	c.328G>A	c.(328-330)Gct>Act	p.A110T		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGGTCCTCAGCGCTACCCATT	0.522													T	6789861	C	T	6789861	3	4	386	1	0	0	0	0	1	0	0	0	11061	768	27	1	626	1	OR2AG2	11	6789861	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		6789861	128216655	53	40107											
OR5M3	219482	broad.mit.edu	37	chr11	56237501	56237501	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaagccgtaagtccataatGttgctgccagactcgtcaga	12	9	9	11	2	1	2	1	0	0	2	3	2	2	2	3	0	3	3	3	0	3	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:56237501G>T	ENST00000312240.2	-	1	513	c.473C>A	c.(472-474)aCa>aAa	p.T158K		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AGTCCATAATGTTGCTGCCAG	0.428													T	56237501	G	T	56237501	3	4	386	1	0	0	0	0	1	0	0	0	11251	1377	48	4	452	4	OR5M3	11	56237501	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	49447640	56237501	78769015	54	40108											
GANAB	23193	broad.mit.edu	37	chr11	62400106	62400106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagaagatgcccaagtcGcgatgagggttgtgtgccag	10	7	15	9	2	0	3	0	1	0	2	1	4	0	3	3	1	3	1	3	1	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:62400106G>A	ENST00000346178.4	-	10	1008	c.993C>T	c.(991-993)cgC>cgT	p.R331R	GANAB_ENST00000540933.1_Silent_p.R212R|GANAB_ENST00000534779.1_Silent_p.R217R|GANAB_ENST00000356638.3_Silent_p.R309R	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	309					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCCCAAGTCGCGATGAGGGT	0.532													A	62400106	G	A	62400106	2	1	386	1	0	0	0	0	0	0	0	1	6287	1074	38	1		1	GANAB	11	62400106	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	6162605	62400106	72606410	55	40109											
OR6M1	390261	broad.mit.edu	37	chr11	123676272	123676272	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcataatccagtgaggaGttctgattgggtctcacata	10	14	10	7	0	3	2	2	2	2	0	5	3	4	3	1	2	0	1	1	2	2	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr11:123676272G>A	ENST00000309154.2	-	1	823	c.786C>T	c.(784-786)aaC>aaT	p.N262N		NM_001005325.1	NP_001005325.1	Q8NGM8	OR6M1_HUMAN	olfactory receptor, family 6, subfamily M, member 1	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|prostate(2)|skin(5)|urinary_tract(1)	29		Breast(109;0.0109)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.028)		CCAGTGAGGAGTTCTGATTGG	0.498													A	123676272	G	A	123676272	2	1	386	1	0	0	0	0	0	0	0	1	11281	1020	36	2		2	OR6M1	11	123676272	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	61276166	123676272	11330244	56	40110											
KLRF1	51348	broad.mit.edu	37	chr12	9995006	9995006	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgacatggacttgggtGgatggttctccaatagattc	12	12	11	6	0	1	2	0	1	1	1	3	4	1	4	1	4	0	1	1	4	4	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:9995006G>A	ENST00000279544.3	+	5	628	c.564G>A	c.(562-564)gtG>gtA	p.V188V	KLRF1_ENST00000354855.3_Intron|KLRF1_ENST00000324214.4_Silent_p.V138V|KLRF1_ENST00000537723.1_Intron	NM_016523.1	NP_057607	Q9NZS2	KLRF1_HUMAN	killer cell lectin-like receptor subfamily F, member 1	188	C-type lectin.				cell surface receptor linked signaling pathway	integral to plasma membrane	MHC class I receptor activity|sugar binding			breast(1)|endometrium(2)|large_intestine(4)|lung(6)	13						GGACTTGGGTGGATGGTTCTC	0.358													A	9995006	G	A	9995006	2	1	386	1	0	0	0	0	0	0	0	1	8478	1335	47	2		2	KLRF1	12	9995006	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08		9995006	123856889	57	40111											
CUX2	23316	broad.mit.edu	37	chr12	111748299	111748299	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctgaaacacaacatCgggcagcgggtgtttgggca	10	7	14	10	2	0	1	0	1	0	0	1	1	0	1	0	3	5	5	0	3	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:111748299C>A	ENST00000261726.6	+	15	1867	c.1713C>A	c.(1711-1713)atC>atA	p.I571I		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	571						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AACACAACATCGGGCAGCGGG	0.677													A	111748299	C	A	111748299	2	1	386	1	0	0	0	0	0	0	0	1	4098	874	31	4		4	CUX2	12	111748299	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	101753293	111748299	22103596	58	40112											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112321472	112321472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaaacaccacagccggactAtcccaaaggatatgcgaaga	16	4	8	13	2	0	1	0	0	0	1	1	4	1	3	4	2	3	0	4	2	5	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr12:112321472A>G	ENST00000550735.2	+	9	1504	c.748A>G	c.(748-750)Atc>Gtc	p.I250V	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.I250V	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	250	Protein kinase.				signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						CAGCCGGACTATCCCAAAGGA	0.468													G	112321472	A	G	112321472	3	3	386	1	0	0	0	0	1	0	0	0	9366	449	16	3	782	3	MAPKAPK5	12	112321472	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	573173	112321472	21530423	59	40113											
TRIM13	10206	broad.mit.edu	37	chr13	50586329	50586329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggaaaagtataacaagAtcaagatctctcccaaaatg	17	10	7	7	0	2	2	1	0	1	2	4	3	3	3	1	1	1	1	1	1	8	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr13:50586329A>G	ENST00000378182.3	+	2	991	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	TRIM13_ENST00000420995.2_Missense_Mutation_p.I85V|TRIM13_ENST00000457662.2_Missense_Mutation_p.I85V|TRIM13_ENST00000356017.4_Missense_Mutation_p.I88V|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000298772.5_Missense_Mutation_p.I88V	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	85					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		GTATAACAAGATCAAGATCTC	0.438													G	50586329	A	G	50586329	3	3	386	1	0	0	0	0	1	0	0	0	16589	333	12	3	268	3	TRIM13	13	50586329	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08		50586329	64583549	60	40114											
CDH24	64403	broad.mit.edu	37	chr14	23523984	23523984	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccacagagaagaaaggCagtccatccagaacagtgta	15	5	12	9	0	0	3	0	0	0	3	3	4	3	3	3	2	1	2	3	2	4	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:23523984C>T	ENST00000397359.3	-	4	847	c.588G>A	c.(586-588)ctG>ctA	p.L196L	CDH24_ENST00000554034.1_Silent_p.L196L|CDH24_ENST00000487137.2_Silent_p.L196L|CDH24_ENST00000267383.5_Silent_p.L196L	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	196	Cadherin 2.				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGAAGAAAGGCAGTCCATCCA	0.597											OREG0022594	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	23523984	C	T	23523984	2	4	386	1	0	0	0	0	0	0	0	1	3139	697	25	2		2	CDH24	14	23523984	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08		23523984	83825556	61	40115											
NFATC4	4776	broad.mit.edu	37	chr14	24839464	24839464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagctctgtcccgccGtggcagcctgggggaagagg	5	6	15	15	2	1	1	0	0	1	1	3	2	3	2	5	4	2	2	5	4	1	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:24839464G>A	ENST00000413692.2	+	3	1193	c.1049G>A	c.(1048-1050)cGt>cAt	p.R350H	NFATC4_ENST00000555453.1_Missense_Mutation_p.R275H|NFATC4_ENST00000422617.3_Missense_Mutation_p.R275H|NFATC4_ENST00000553469.1_Missense_Mutation_p.R319H|NFATC4_ENST00000250373.4_Missense_Mutation_p.R287H|NFATC4_ENST00000553879.1_Missense_Mutation_p.R217H|NFATC4_ENST00000440487.2_3'UTR|NFATC4_ENST00000557451.1_Missense_Mutation_p.R217H|NFATC4_ENST00000556169.1_Missense_Mutation_p.R275H|NFATC4_ENST00000556279.1_Missense_Mutation_p.R319H|NFATC4_ENST00000554050.1_Missense_Mutation_p.R287H|NFATC4_ENST00000554591.1_Missense_Mutation_p.R350H|NFATC4_ENST00000554344.1_Missense_Mutation_p.R217H|NFATC4_ENST00000553708.1_Missense_Mutation_p.R287H|NFATC4_ENST00000424781.2_Missense_Mutation_p.R300H|NFATC4_ENST00000555590.1_Missense_Mutation_p.R300H|NFATC4_ENST00000539237.2_Missense_Mutation_p.R319H|NFATC4_ENST00000554661.1_Missense_Mutation_p.R217H|NFATC4_ENST00000554966.1_Missense_Mutation_p.R300H	NM_001136022.1|NM_001198967.1	NP_001129494.1|NP_001185896.1	Q14934	NFAC4_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 4	287					cell differentiation|inflammatory response|transcription from RNA polymerase II promoter	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(7)|liver(4)|lung(12)|ovary(1)|skin(2)	34				GBM - Glioblastoma multiforme(265;0.018)		CTGTCCCGCCGTGGCAGCCTG	0.706													A	24839464	G	A	24839464	3	1	386	1	0	0	0	0	1	0	0	0	10441	1145	40	1	1059	1	NFATC4	14	24839464	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1315480	24839464	82510076	62	40116											
NKX2-8	26257	broad.mit.edu	37	chr14	37051529	37051529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccgcctcggcaggtgttgCgcgtcctgctcgggtaaatc	4	10	13	14	5	0	0	0	0	0	0	5	0	2	0	3	3	2	4	3	3	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:37051529C>T	ENST00000258829.5	-	1	283	c.66G>A	c.(64-66)gcG>gcA	p.A22A		NM_014360.2	NP_055175.2	O15522	NKX28_HUMAN	NK2 homeobox 8	22					liver development|transcription from RNA polymerase II promoter	nucleus	double-stranded DNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			upper_aerodigestive_tract(1)	1	Breast(36;0.143)|Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.0113)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0171)		GCAGGTGTTGCGCGTCCTGCT	0.701													T	37051529	C	T	37051529	2	4	386	1	0	0	0	0	0	0	0	1	10530	755	27	1		1	NKX2-8	14	37051529	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	12212065	37051529	70298011	63	40117											
ACOT4	122970	broad.mit.edu	37	chr14	74060453	74060453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acatctttggtattggagggGgcctcttggaatatcgagcc	8	12	13	8	1	2	0	0	0	2	0	3	3	2	2	2	5	1	1	2	5	3	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:74060453G>A	ENST00000326303.4	+	2	759	c.505G>A	c.(505-507)Ggc>Agc	p.G169S		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	169					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		TATTGGAGGGGGCCTCTTGGA	0.428													A	74060453	G	A	74060453	3	1	386	1	0	0	0	0	1	0	0	0	153	1232	43	2	511	2	ACOT4	14	74060453	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	37008924	74060453	33289087	64	40118											
AHNAK2	113146	broad.mit.edu	37	chr14	105408008	105408008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctggacatccgtctccaCgctgggcagagacacctcca	8	6	11	16	2	1	1	0	0	1	1	4	3	3	2	5	3	0	2	5	3	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr14:105408008C>T	ENST00000333244.5	-	7	13899	c.13780G>A	c.(13780-13782)Gtg>Atg	p.V4594M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4594						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCGTCTCCACGCTGGGCAGA	0.642													T	105408008	C	T	105408008	3	4	386	1	0	0	0	0	1	0	0	0	415	536	19	1	3611	1	AHNAK2	14	105408008	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	31347555	105408008	1941532	65	40119											
TJP1	7082	broad.mit.edu	37	chr15	30058630	30058630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgttaaccacaccactcCggccacttcttggatcatgt	8	13	6	14	1	3	0	1	0	2	0	4	1	4	1	4	2	1	1	4	2	1	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:30058630C>T	ENST00000346128.6	-	5	902	c.428G>A	c.(427-429)cGg>cAg	p.R143Q	TJP1_ENST00000400011.2_Missense_Mutation_p.R147Q|TJP1_ENST00000545208.2_Missense_Mutation_p.R143Q|TJP1_ENST00000356107.6_Missense_Mutation_p.R143Q|TJP1_ENST00000495972.2_Missense_Mutation_p.R143Q	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	143					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		CACACCACTCCGGCCACTTCT	0.468													T	30058630	C	T	30058630	3	4	386	1	0	0	0	0	1	0	0	0	16029	652	23	1	4914	1	TJP1	15	30058630	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08		30058630	72472762	66	40120											
DISP2	85455	broad.mit.edu	37	chr15	40656103	40656103	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctccagccccctcacagCgcgatgggacctggaagcca	8	6	10	17	2	2	0	1	0	1	0	3	3	2	2	5	2	3	0	5	2	1	1	rs150939222		TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr15:40656103C>A	ENST00000267889.3	+	2	484	c.397C>A	c.(397-399)Cgc>Agc	p.R133S		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	133					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCCCTCACAGCGCGATGGGAC	0.657													A	40656103	C	A	40656103	3	1	386	1	0	0	0	0	1	0	0	0	4579	768	27	4	403	4	DISP2	15	40656103	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	10597473	40656103	61875289	67	40121											
ITPRIPL2	162073	broad.mit.edu	37	chr16	19126381	19126381	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcgaggagccagcgctgGccccggccttccgcggctgc	3	5	17	16	5	0	0	0	0	0	0	1	2	1	1	5	5	3	2	5	5	0	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:19126381G>T	ENST00000381440.3	+	1	1128	c.598G>T	c.(598-600)Gcc>Tcc	p.A200S	CTD-2349B8.1_ENST00000564808.2_Intron	NM_001034841.3	NP_001030013.1	Q3MIP1	IPIL2_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 2	200						integral to membrane				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						GCCAGCGCTGGCCCCGGCCTT	0.706											OREG0023657	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	19126381	G	T	19126381	3	4	386	1	0	0	0	0	1	0	0	0	7983	1203	42	4	600	4	ITPRIPL2	16	19126381	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		19126381	71228372	68	40122											
RBBP6	5930	broad.mit.edu	37	chr16	24581321	24581321	+	Frame_Shift_Del	DEL	C	C	-																															aagaacaccaagaaacaaaaCcagtcaaagaggaaaaagtg																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:24581321delC	ENST00000319715.4	+	17	3742	c.3310delC	c.(3310-3312)ccafs	p.P1104fs	RBBP6_ENST00000348022.2_Frame_Shift_Del_p.P1070fs|RBBP6_ENST00000381039.3_Intron	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1104	Interaction with RB1 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGAAACAAAACCAGTCAAAGA	0.368													-	24581321	C	-	24581321	7	5	386	1	0	1	0	1	0	0	0	0	13191	507	18	0	3430	0	RBBP6	16	24581321	Frame_Shift_Del	DEL	C	TCGA-DU-7010-01A-11D-2024-08	5454940	24581321	65773432	69	40123											
SDR42E1	93517	broad.mit.edu	37	chr16	82034402	82034402	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagatacacttaccgaaaaCcaaaatagccacttcctcct	16	9	3	13	1	0	1	0	0	0	1	2	2	2	1	5	0	4	0	5	0	8	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr16:82034402C>G	ENST00000328945.5	-	2	189	c.62G>C	c.(61-63)gGt>gCt	p.G21A	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	21					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						TTACCGAAAACCAAAATAGCC	0.383													G	82034402	C	G	82034402	3	3	386	1	0	0	0	0	1	0	0	0	14066	507	18	4	1127	4	SDR42E1	16	82034402	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	57453081	82034402	8320351	70	40124											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	386	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08		7578394	73616816	71	40125											
MFSD6L	162387	broad.mit.edu	37	chr17	8701438	8701438	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcaatgctcaccagtaagGccagggtgctgaccaccgag	11	5	13	12	1	1	1	1	1	0	0	1	2	1	1	4	3	2	4	4	3	2	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:8701438G>T	ENST00000329805.4	-	1	1229	c.1001C>A	c.(1000-1002)gCc>gAc	p.A334D		NM_152599.3	NP_689812.3	Q8IWD5	MFS6L_HUMAN	major facilitator superfamily domain containing 6-like	334						integral to membrane		p.A334V(1)		central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(7)|skin(4)	17						CACCAGTAAGGCCAGGGTGCT	0.597													T	8701438	G	T	8701438	3	4	386	1	0	0	0	0	1	0	0	0	9611	1203	42	4	763	4	MFSD6L	17	8701438	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1123044	8701438	72493772	72	40126											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917362	48917362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtggtgggccggccccGgcctgagatcacctgggaga	6	7	17	11	2	1	3	1	2	0	2	1	5	1	3	5	5	0	0	5	5	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:48917362G>A	ENST00000311378.4	+	2	1241	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.R145Q	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	238	Ig-like C2-type.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			GGCCGGCCCCGGCCTGAGATC	0.622													A	48917362	G	A	48917362	3	1	386	1	0	0	0	0	1	0	0	0	17461	1116	39	1	719	1	WFIKKN2	17	48917362	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	40215924	48917362	32277848	73	40127											
HSF5	124535	broad.mit.edu	37	chr17	56540259	56540259	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatggctgcagattcctGtattgtgctattttcaacag	8	15	10	8	0	1	1	1	0	0	1	2	2	2	2	1	2	3	4	1	2	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:56540259G>C	ENST00000323777.3	-	4	1535	c.1426C>G	c.(1426-1428)Cag>Gag	p.Q476E		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	476						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GCAGATTCCTGTATTGTGCTA	0.468													C	56540259	G	C	56540259	3	2	386	1	0	0	0	0	1	0	0	0	7454	1386	48	4	376	4	HSF5	17	56540259	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	7622897	56540259	24654951	74	40128											
CSH1	1442	broad.mit.edu	37	chr17	61972426	61972426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcggcactgcaccatgcGcaggaatgtctcgaccttgt	9	8	12	12	3	1	1	0	0	1	1	2	3	1	2	2	2	3	3	2	2	1	1	rs139446025	byFrequency	TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:61972426G>A	ENST00000316193.8	-	5	751	c.610C>T	c.(610-612)Cgc>Tgc	p.R204C	CSH1_ENST00000329882.8_3'UTR|CSH1_ENST00000453363.3_Missense_Mutation_p.R109C	NM_001317.5	NP_001308.1	P01243	CSH_HUMAN	chorionic somatomammotropin hormone 1 (placental lactogen)	204					female pregnancy|signal transduction	extracellular region	hormone activity|metal ion binding			central_nervous_system(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						TGCACCATGCGCAGGAATGTC	0.582									Russell-Silver syndrome				A	61972426	G	A	61972426	3	1	386	1	0	0	0	0	1	0	0	0	3973	1087	38	1	47	1	CSH1	17	61972426	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	5432167	61972426	19222784	75	40129											
EVPL	2125	broad.mit.edu	37	chr17	74003589	74003589	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atgccggtgaaggccttctgGgcgttaagcagcctctgtgt	6	11	14	10	2	2	1	0	1	2	0	2	1	2	1	3	3	3	2	3	3	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74003589G>T	ENST00000301607.3	-	22	5950	c.5697C>A	c.(5695-5697)gcC>gcA	p.A1899A	EVPL_ENST00000586740.1_Silent_p.A1921A	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1899	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGGCCTTCTGGGCGTTAAGCA	0.652													T	74003589	G	T	74003589	2	4	386	1	0	0	0	0	0	0	0	1	5333	1219	43	4		4	EVPL	17	74003589	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	12031163	74003589	7191621	76	40130											
JMJD6	23210	broad.mit.edu	37	chr17	74716489	74716489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaggagctggaagagtCgctggagctgtcggaagcta	9	7	18	7	2	0	1	0	0	0	1	2	6	0	6	0	5	3	5	0	5	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr17:74716489C>T	ENST00000445478.2	-	5	1236	c.1033G>A	c.(1033-1035)Gac>Aac	p.D345N	JMJD6_ENST00000585429.1_Intron|JMJD6_ENST00000397625.4_Missense_Mutation_p.D345N	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	345	Ser-rich.				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CTGGAAGAGTCGCTGGAGCTG	0.582													T	74716489	C	T	74716489	3	4	386	1	0	0	0	0	1	0	0	0	8011	884	31	1	227	1	JMJD6	17	74716489	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	712900	74716489	6478721	77	40131											
RIOK3	8780	broad.mit.edu	37	chr18	21047458	21047458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgtattagtacaggaaaGgagtctgttgtctttcatgc	9	14	12	6	0	3	0	1	0	2	0	3	2	3	2	0	3	2	4	0	3	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:21047458G>T	ENST00000339486.3	+	7	1400	c.783G>T	c.(781-783)aaG>aaT	p.K261N	RIOK3_ENST00000577501.1_Missense_Mutation_p.K261N|RIOK3_ENST00000581585.1_Missense_Mutation_p.K245N	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	261	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					GTACAGGAAAGGAGTCTGTTG	0.368													T	21047458	G	T	21047458	3	4	386	1	0	0	0	0	1	0	0	0	13470	991	35	4	809	4	RIOK3	18	21047458	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		21047458	57029790	78	40132											
HRH4	59340	broad.mit.edu	37	chr18	22056724	22056724	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctaggtgtcttatagaaCtcaacatactggggtcttga	10	14	9	8	0	4	2	1	1	3	1	4	2	4	2	0	3	3	0	0	3	6	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:22056724C>G	ENST00000256906.4	+	3	471	c.371C>G	c.(370-372)aCt>aGt	p.T124S	HRH4_ENST00000426880.2_Intron	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	124						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	TCTTATAGAACTCAACATACT	0.378													G	22056724	C	G	22056724	3	3	386	1	0	0	0	0	1	0	0	0	7413	565	20	4	381	4	HRH4	18	22056724	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	1009266	22056724	56020524	79	40133											
GALNT1	2589	broad.mit.edu	37	chr18	33257583	33257583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaggtgtatccagataatCttcctacaacaagtgtggtg	13	11	9	8	0	1	1	0	0	1	1	3	1	3	1	2	2	2	1	2	2	6	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr18:33257583C>T	ENST00000269195.5	+	3	446	c.343C>T	c.(343-345)Ctt>Ttt	p.L115F	GALNT1_ENST00000537549.1_Missense_Mutation_p.L55F	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	115	Catalytic subdomain A.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TCCAGATAATCTTCCTACAAC	0.388													T	33257583	C	T	33257583	3	4	386	1	0	0	0	0	1	0	0	0	6261	913	32	2	353	2	GALNT1	18	33257583	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	11200859	33257583	44819665	80	40134											
ABCA7	10347	broad.mit.edu	37	chr19	1042063	1042063	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgccctctctctgtccccagGgtctcccggctgctagccga	3	10	10	18	2	3	0	0	0	3	0	6	1	4	0	5	2	3	2	5	2	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:1042063G>A	ENST00000263094.6	+	5	534	c.303G>A	c.(301-303)ctG>ctA	p.L101L	ABCA7_ENST00000433129.1_Splice_Site_p.L101L	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	101					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTGTCCCCAGGGTCTCCCGGC	0.711													A	1042063	G	A	1042063	5	1	386	1	0	0	0	0	0	0	1	0	37	1246	43	2	317	2	ABCA7	19	1042063	Splice_Site	SNP	G	TCGA-DU-7010-01A-11D-2024-08		1042063	58086920	81	40135											
OR7G3	390883	broad.mit.edu	37	chr19	9237223	9237223	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagtttggggttcatgAtgacattgtacctcagtggg	9	12	13	7	0	2	3	2	2	0	1	2	3	2	3	1	3	1	3	1	3	1	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:9237223A>T	ENST00000305444.2	-	1	403	c.404T>A	c.(403-405)aTc>aAc	p.I135N		NM_001001958.1	NP_001001958.1	Q8NG95	OR7G3_HUMAN	olfactory receptor, family 7, subfamily G, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15						GGGGTTCATGATGACATTGTA	0.488													T	9237223	A	T	9237223	3	4	386	1	0	0	0	0	1	0	0	0	11300	333	12	5	537	5	OR7G3	19	9237223	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	8195160	9237223	49891760	82	40136											
KLF1	10661	broad.mit.edu	37	chr19	12996674	12996674	+	Frame_Shift_Del	DEL	C	C	-																															ctccgaacccaaaagcccagCcaccagccccgggccgccag																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:12996674delC	ENST00000264834.4	-	2	410	c.370delG	c.(370-372)gctfs	p.A124fs		NM_006563.3	NP_006554.1	Q13351	KLF1_HUMAN	Kruppel-like factor 1 (erythroid)	124	Pro-rich.				erythrocyte differentiation|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(3)|large_intestine(1)|skin(1)	5		Hepatocellular(1079;0.137)		GBM - Glioblastoma multiforme(1328;0.00016)|Lung(535;0.171)|STAD - Stomach adenocarcinoma(1328;0.18)		AAAAGCCCAGCCACCAGCCCC	0.746													-	12996674	C	-	12996674	7	5	386	1	0	1	0	1	0	0	0	0	8395	739	26	0	726	0	KLF1	19	12996674	Frame_Shift_Del	DEL	C	TCGA-DU-7010-01A-11D-2024-08	3759451	12996674	46132309	83	40137											
ZNF30	90075	broad.mit.edu	37	chr19	35434793	35434793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccttgctaagcatcagaGaattcatactggcgagaaac	14	8	8	11	1	2	2	2	0	0	2	2	4	2	2	2	1	4	2	2	1	4	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:35434793G>T	ENST00000439785.1	+	5	1370	c.926G>T	c.(925-927)aGa>aTa	p.R309I	ZNF30_ENST00000426813.2_Missense_Mutation_p.R227I|ZNF30_ENST00000601957.1_3'UTR|ZNF30_ENST00000303586.7_Missense_Mutation_p.R309I|ZNF30_ENST00000601142.1_Missense_Mutation_p.R308I	NM_001099438.1	NP_001092908.1	P17039	ZNF30_HUMAN	zinc finger protein 30	308					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)	16	all_lung(56;8.38e-08)|Lung NSC(56;1.31e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)	GBM - Glioblastoma multiforme(1328;0.0265)		AAGCATCAGAGAATTCATACT	0.448													T	35434793	G	T	35434793	3	4	386	1	0	0	0	0	1	0	0	0	17931	942	33	4	940	4	ZNF30	19	35434793	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	22438119	35434793	23694190	84	40138											
SPTBN4	57731	broad.mit.edu	37	chr19	41066266	41066266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcgacctgctctcctggAtggatggcatcgccagccag	6	8	12	15	3	1	0	0	0	1	0	4	3	2	2	5	3	2	2	5	3	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:41066266A>G	ENST00000352632.3	+	27	5958	c.5872A>G	c.(5872-5874)Atg>Gtg	p.M1958V	SPTBN4_ENST00000598249.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000595535.1_Missense_Mutation_p.M1958V|SPTBN4_ENST00000338932.3_Missense_Mutation_p.M1958V|SPTBN4_ENST00000392023.1_Missense_Mutation_p.M634V|SPTBN4_ENST00000392025.1_Missense_Mutation_p.M701V			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	1958					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GCTCTCCTGGATGGATGGCAT	0.667													G	41066266	A	G	41066266	3	3	386	1	0	0	0	0	1	0	0	0	15217	333	12	3	5974	3	SPTBN4	19	41066266	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	5631473	41066266	18062717	85	40139											
NKPD1	284353	broad.mit.edu	37	chr19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-																															gtggggcccccaaagtccccCtgctgctgctgctgctgcag																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:45655769_45655771delCTG	ENST00000317951.4	-	4	1923_1925	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													-	45655771	CTG	-	45655769	7	5	386	1	0	1	0	1	0	0	0	0	10522	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-DU-7010-01A-11D-2024-08	4589503	45655769	13473214	86	40140											
SULT2B1	6820	broad.mit.edu	37	chr19	49094920	49094920	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctccctctatcattacTccaagatcgccgggcagtta	8	12	8	13	2	3	1	1	0	2	1	6	1	4	1	3	2	1	2	3	2	4	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:49094920T>A	ENST00000323090.4	+	3	808	c.433T>A	c.(433-435)Tcc>Acc	p.S145T	SULT2B1_ENST00000201586.2_Missense_Mutation_p.S160T|SULT2B1_ENST00000594274.1_3'UTR	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	160					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		CTATCATTACTCCAAGATCGC	0.612													A	49094920	T	A	49094920	3	1	386	1	0	0	0	0	1	0	0	0	15478	1551	54	5	518	5	SULT2B1	19	49094920	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	3439151	49094920	10034063	87	40141											
SCAF1	58506	broad.mit.edu	37	chr19	50156700	50156700	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggaggctggggtccgAggtggggcggaggaggagga	8	4	24	5	2	0	1	0	1	0	0	1	7	1	6	1	11	0	1	1	11	0	0			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:50156700A>C	ENST00000360565.3	+	7	3178	c.3054A>C	c.(3052-3054)cgA>cgC	p.R1018R		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1018	Glu-rich.				mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		CTGGGGTCCGAGGTGGGGCgg	0.657													C	50156700	A	C	50156700	2	2	386	1	0	0	0	0	0	0	0	1	13960	291	11	5		5	SCAF1	19	50156700	Silent	SNP	A	TCGA-DU-7010-01A-11D-2024-08	1061780	50156700	8972283	88	40142											
C19orf48	84798	broad.mit.edu	37	chr19	51301536	51301536	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagcctgcaggaagcccttGgtagcccacttatccacctt	8	10	8	15	0	0	0	0	0	0	0	1	1	1	1	5	2	4	2	5	2	4	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301536G>A	ENST00000598463.1	-	5	1268	c.170C>T	c.(169-171)cCa>cTa	p.P57L	C19orf48_ENST00000596655.1_Missense_Mutation_p.P57L|C19orf48_ENST00000391812.1_Missense_Mutation_p.P57L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P57L			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	57										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GGAAGCCCTTGGTAGCCCACT	0.647													A	51301536	G	A	51301536	3	1	386	1	0	0	0	0	1	0	0	0	1950	1348	47	2	187	2	C19orf48	19	51301536	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1144836	51301536	7827447	89	40143											
C19orf48	84798	broad.mit.edu	37	chr19	51301602	51301602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtccttgtgcactgggttGggtcccagcatgagcctggt	6	11	14	10	0	0	1	0	1	0	0	2	1	2	1	3	3	3	3	3	3	1	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:51301602G>A	ENST00000598463.1	-	5	1202	c.104C>T	c.(103-105)cCa>cTa	p.P35L	C19orf48_ENST00000596655.1_Missense_Mutation_p.P35L|C19orf48_ENST00000391812.1_Missense_Mutation_p.P35L|C19orf48_ENST00000345523.4_Missense_Mutation_p.P35L			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	35										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		GCACTGGGTTGGGTCCCAGCA	0.642													A	51301602	G	A	51301602	3	1	386	1	0	0	0	0	1	0	0	0	1950	1348	47	2	253	2	C19orf48	19	51301602	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	66	51301602	7827381	90	40144											
PRPF31	26121	broad.mit.edu	37	chr19	54629912	54629912	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctccaggatctgcggCggaaagcggcccggctggtg	5	7	17	12	5	1	0	0	0	1	0	2	2	2	2	2	6	3	3	2	6	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:54629912C>T	ENST00000321030.4	+	9	1214	c.865C>T	c.(865-867)Cgg>Tgg	p.R289W	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000419967.1_Missense_Mutation_p.R289W|PRPF31_ENST00000391755.1_Missense_Mutation_p.R289W	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	289	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGATCTGCGGCGGAAAGCGGC	0.617													T	54629912	C	T	54629912	3	4	386	1	0	0	0	0	1	0	0	0	12652	759	27	1	895	1	PRPF31	19	54629912	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	3328310	54629912	4499071	91	40145											
PTPRH	5794	broad.mit.edu	37	chr19	55710148	55710148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgggtcctggggtcaGtcatgccttccctgacccat	4	13	11	13	0	2	1	2	1	0	0	4	1	4	1	4	3	2	1	4	3	0	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr19:55710148G>A	ENST00000376350.3	-	8	1575	c.1553C>T	c.(1552-1554)aCt>aTt	p.T518I	PTPRH_ENST00000263434.5_Missense_Mutation_p.T340I|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	518	Fibronectin type-III 6.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCTGGGGTCAGTCATGCCTTC	0.592													A	55710148	G	A	55710148	3	1	386	1	0	0	0	0	1	0	0	0	12891	1029	36	2	1846	2	PTPRH	19	55710148	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	1080236	55710148	3418835	92	40146											
BCL2L13	23786	broad.mit.edu	37	chr22	18185020	18185020	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgaagattttggtgccTctggttttgctacgacaaat	9	15	10	7	1	1	2	0	1	1	1	1	3	1	2	1	2	3	3	1	2	3	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:18185020T>G	ENST00000317582.5	+	6	815	c.468T>G	c.(466-468)ccT>ccG	p.P156P	BCL2L13_ENST00000418951.2_Intron|BCL2L13_ENST00000337612.5_5'UTR|BCL2L13_ENST00000493680.1_Silent_p.P156P|BCL2L13_ENST00000543133.1_5'UTR|BCL2L13_ENST00000538149.1_Silent_p.P32P|BCL2L13_ENST00000355028.3_Intron|BCL2L13_ENST00000399782.1_Silent_p.P156P	NM_015367.3	NP_056182.2	Q9BXK5	B2L13_HUMAN	BCL2-like 13 (apoptosis facilitator)	156					induction of apoptosis	integral to membrane|mitochondrial membrane|nucleus	caspase activator activity			breast(2)|central_nervous_system(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(3)|urinary_tract(2)	15		all_epithelial(15;0.123)		Lung(27;0.199)		TTTTGGTGCCTCTGGTTTTGC	0.363													G	18185020	T	G	18185020	2	3	386	1	0	0	0	0	0	0	0	1	1376	1538	54	5		5	BCL2L13	22	18185020	Silent	SNP	T	TCGA-DU-7010-01A-11D-2024-08		18185020	33119546	93	40147											
CYTH4	27128	broad.mit.edu	37	chr22	37696974	37696974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggagcttccggctgcCgggcgaggcccagaagatag	7	6	16	12	3	0	2	0	0	0	2	1	4	1	3	4	4	2	2	4	4	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:37696974C>T	ENST00000248901.6	+	7	648	c.461C>T	c.(460-462)cCg>cTg	p.P154L	CYTH4_ENST00000439667.1_3'UTR	NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	154	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						TTCCGGCTGCCGGGCGAGGCC	0.667													T	37696974	C	T	37696974	3	4	386	1	0	0	0	0	1	0	0	0	4239	652	23	1	487	1	CYTH4	22	37696974	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	19511954	37696974	13607592	94	40148											
CPT1B	1375	broad.mit.edu	37	chr22	51011381	51011381	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcggggtcataggagtaGgattcctcatccagggccac	8	10	12	11	1	3	0	2	0	1	0	6	2	5	2	3	5	0	1	3	5	2	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chr22:51011381G>C	ENST00000360719.2	-	11	1412	c.1275C>G	c.(1273-1275)tcC>tcG	p.S425S	CPT1B_ENST00000434492.2_Silent_p.S222S|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000395650.2_Silent_p.S425S|CPT1B_ENST00000457250.1_Silent_p.S391S|CPT1B_ENST00000312108.7_Silent_p.S425S|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000405237.3_Silent_p.S425S	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	425					carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CATAGGAGTAGGATTCCTCAT	0.602													C	51011381	G	C	51011381	2	2	386	1	0	0	0	0	0	0	0	1	3863	987	35	4		4	CPT1B	22	51011381	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	13314407	51011381	293185	95	40149											
CRLF2	64109	broad.mit.edu	37	chrX	1321390	1321390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgaaaatctcacgtgcttcGgggaactgggtttcactgag	10	10	12	9	3	2	1	2	1	1	0	4	3	2	2	0	3	2	2	0	3	3	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:1321390G>A	ENST00000381567.3	-	4	364	c.365C>T	c.(364-366)cCg>cTg	p.P122L	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Missense_Mutation_p.P122L	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	122	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		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)				CACGTGCTTCGGGGAACTGGG	0.542			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								A	1321390	G	A	1321390	3	1	386	1	0	0	0	0	1	0	0	0	3918	1116	39	1	420	1	CRLF2	23	1321390	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08		1321390	153949170	96	40150											
CNKSR2	22866	broad.mit.edu	37	chrX	21627466	21627466	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagcacaggcggcagtCtaccctgccaactcagaaat	12	5	9	15	1	2	2	1	0	1	2	2	2	2	2	3	2	4	2	3	2	3	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:21627466C>A	ENST00000425654.2	+	19	2813	c.2333C>A	c.(2332-2334)tCt>tAt	p.S778Y	CNKSR2_ENST00000543067.1_Missense_Mutation_p.S759Y|CNKSR2_ENST00000379510.3_Missense_Mutation_p.S808Y|CNKSR2_ENST00000279451.4_Missense_Mutation_p.S808Y	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	808					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						AGGCGGCAGTCTACCCTGCCA	0.547													A	21627466	C	A	21627466	3	1	386	1	0	0	0	0	1	0	0	0	3638	913	32	4	2501	4	CNKSR2	23	21627466	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20306076	21627466	133643094	97	40151											
PDK3	5165	broad.mit.edu	37	chrX	24545692	24545692	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatcttattattttagaActcaatgagagcgacagttg	15	13	8	5	1	2	3	1	1	1	3	2	5	2	3	0	0	2	1	0	0	6	5			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:24545692A>T	ENST00000441463.2	+	8	752	c.752A>T	c.(751-753)aAc>aTc	p.N251I	PDK3_ENST00000379162.4_Splice_Site_p.N251I	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	251	Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTATTTTAGAACTCAATGAGA	0.363													T	24545692	A	T	24545692	5	4	386	1	0	0	0	0	0	0	1	0	11753	57	2	5	782	5	PDK3	23	24545692	Splice_Site	SNP	A	TCGA-DU-7010-01A-11D-2024-08	2918226	24545692	130724868	98	40152											
FAM47B	170062	broad.mit.edu	37	chrX	34961870	34961870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactggagtgtcccatctcCgcccagagccttccaagact	9	8	9	15	1	1	3	0	0	1	3	4	4	3	4	5	1	1	0	5	1	1	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:34961870C>T	ENST00000329357.5	+	1	958	c.922C>T	c.(922-924)Cgc>Tgc	p.R308C		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	308	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						GTCCCATCTCCGCCCAGAGCC	0.632													T	34961870	C	T	34961870	3	4	386	1	0	0	0	0	1	0	0	0	5621	652	23	1	924	1	FAM47B	23	34961870	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	10416178	34961870	120308690	99	40153											
XK	7504	broad.mit.edu	37	chrX	37553613	37553613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtatcaccaagaagaGgcaaatgccaaaaaatggcc	17	6	9	9	0	2	2	2	0	0	2	2	2	2	2	3	2	1	2	3	2	7	1			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:37553613G>A	ENST00000378616.3	+	2	523	c.320G>A	c.(319-321)aGg>aAg	p.R107K	TM4SF2_ENST00000465127.1_Intron	NM_021083.2	NP_066569.1	P51811	XK_HUMAN	X-linked Kx blood group (McLeod syndrome)	107					amino acid transport	integral to membrane	protein binding|transporter activity			breast(1)|endometrium(4)|large_intestine(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	15		all_lung(315;0.175)				ACCAAGAAGAGGCAAATGCCA	0.468													A	37553613	G	A	37553613	3	1	386	1	0	0	0	0	1	0	0	0	17533	1000	35	2	326	2	XK	23	37553613	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	2591743	37553613	117716947	100	40154											
AKAP4	8852	broad.mit.edu	37	chrX	49958081	49958081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagggcactgaccaagcgcTtcagcatggcctccatgatg	10	8	11	12	1	1	2	1	2	0	0	2	2	2	2	3	2	2	3	3	2	2	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:49958081T>C	ENST00000376056.2	-	5	1406	c.1256A>G	c.(1255-1257)aAg>aGg	p.K419R	AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Missense_Mutation_p.K428R|AKAP4_ENST00000376064.3_Missense_Mutation_p.K419R|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	428					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					GACCAAGCGCTTCAGCATGGC	0.478													C	49958081	T	C	49958081	3	2	386	1	0	0	0	0	1	0	0	0	453	1609	56	3	1289	3	AKAP4	23	49958081	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	12404468	49958081	105312479	101	40155											
MED12	9968	broad.mit.edu	37	chrX	70345937	70345937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcctgaagccttccccaCtgctgaagatatctttgcta	8	11	8	14	1	1	3	0	2	1	1	2	3	2	3	5	1	3	2	5	1	4	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:70345937C>A	ENST00000333646.6	+	18	2673	c.2474C>A	c.(2473-2475)aCt>aAt	p.T825N	MED12_ENST00000374102.1_Missense_Mutation_p.T825N|MED12_ENST00000374080.3_Missense_Mutation_p.T825N	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	825					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GCCTTCCCCACTGCTGAAGAT	0.552			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70345937	C	A	70345937	3	1	386	1	0	0	0	0	1	0	0	0	9503	565	20	4	2544	4	MED12	23	70345937	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	20387856	70345937	84924623	102	40156											
LONRF3	79836	broad.mit.edu	37	chrX	118148199	118148199	+	Frame_Shift_Del	DEL	G	G	-																															gaggattgtgctgagctcatGggattacataactgtgtcta																										TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:118148199delG	ENST00000304778.7	+	9	2044	c.1881delG	c.(1879-1881)atgfs	p.M627fs	LONRF3_ENST00000422289.2_Frame_Shift_Del_p.M412fs|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Frame_Shift_Del_p.M668fs	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	668	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTGAGCTCATGGGATTACATA	0.438													-	118148199	G	-	118148199	7	5	386	1	0	1	0	1	0	0	0	0	8966	1348	47	0	2042	0	LONRF3	23	118148199	Frame_Shift_Del	DEL	G	TCGA-DU-7010-01A-11D-2024-08	47802262	118148199	37122361	103	40157											
NKAP	79576	broad.mit.edu	37	chrX	119070601	119070601	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtagaagctgaagtagtgCttttctttggctcttcatcc	9	15	9	8	0	3	2	1	1	2	1	4	2	4	2	1	1	2	5	1	1	5	6			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:119070601C>A	ENST00000371410.3	-	3	678	c.512G>T	c.(511-513)aGc>aTc	p.S171I	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	171					negative regulation of transcription, DNA-dependent|Notch signaling pathway|positive regulation of alpha-beta T cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	chromatin binding|protein binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						TGAAGTAGTGCTTTTCTTTGG	0.294													A	119070601	C	A	119070601	3	1	386	1	0	0	0	0	1	0	0	0	10515	797	28	4	763	4	NKAP	23	119070601	Missense_Mutation	SNP	C	TCGA-DU-7010-01A-11D-2024-08	922402	119070601	36199959	104	40158											
DDX26B	203522	broad.mit.edu	37	chrX	134709030	134709030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcccttcatagtgttccagTtgcacaaatgggtaactatc	10	14	7	10	0	1	0	1	0	0	0	4	0	3	0	2	1	2	4	2	1	4	7			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:134709030T>A	ENST00000370752.4	+	13	1986	c.1652T>A	c.(1651-1653)gTt>gAt	p.V551D	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	551										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					AGTGTTCCAGTTGCACAAATG	0.413													A	134709030	T	A	134709030	3	1	386	1	0	0	0	0	1	0	0	0	4387	1725	60	5	1702	5	DDX26B	23	134709030	Missense_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	15638429	134709030	20561530	105	40159											
GPR112	139378	broad.mit.edu	37	chrX	135430980	135430980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctatcagcaactcaacaGtcatcacaagcagatgaggc	14	9	7	11	0	5	2	4	1	1	1	5	2	5	2	0	1	4	2	0	1	4	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:135430980G>C	ENST00000394143.1	+	6	5406	c.5115G>C	c.(5113-5115)caG>caC	p.Q1705H	GPR112_ENST00000370652.1_Missense_Mutation_p.Q1705H|GPR112_ENST00000287534.4_Missense_Mutation_p.Q1642H|GPR112_ENST00000394141.1_Missense_Mutation_p.Q1500H|GPR112_ENST00000412101.1_Missense_Mutation_p.Q1500H	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1705					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACTCAACAGTCATCACAAG	0.458													C	135430980	G	C	135430980	3	2	386	1	0	0	0	0	1	0	0	0	6683	1020	36	4	5125	4	GPR112	23	135430980	Missense_Mutation	SNP	G	TCGA-DU-7010-01A-11D-2024-08	721950	135430980	19839580	106	40160											
MAGEC2	51438	broad.mit.edu	37	chrX	141290652	141290652	+	Nonstop_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaaactatcctagactTcactcagaaaaggagacgtt	16	8	9	8	1	2	4	2	0	0	4	3	6	3	5	1	2	1	1	1	2	6	4			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:141290652T>A	ENST00000247452.3	-	3	1469	c.1122A>T	c.(1120-1122)tgA>tgT	p.*374C		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	0						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTAGACTTCACTCAGAAA	0.502										HNSCC(46;0.14)			A	141290652	T	A	141290652	4	1	386	1	0	0	0	0	0	0	0	0	9256	1796	62	5	3	5	MAGEC2	23	141290652	Nonstop_Mutation	SNP	T	TCGA-DU-7010-01A-11D-2024-08	5859672	141290652	13979908	107	40161											
MAGEA3	4102	broad.mit.edu	37	chrX	151935721	151935721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctttgctgaagatcAcaggaaagaaatactgccaa	16	8	10	7	0	1	3	1	1	0	2	1	5	1	5	1	2	4	2	1	2	6	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:151935721A>G	ENST00000393902.3	-	3	1013	c.446T>C	c.(445-447)gTg>gCg	p.V149A	MAGEA3_ENST00000370278.3_Missense_Mutation_p.V149A			P43357	MAGA3_HUMAN	melanoma antigen family A, 3	149	MAGE.									endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)	15	Acute lymphoblastic leukemia(192;6.56e-05)					GCTGAAGATCACAGGAAAGAA	0.517													G	151935721	A	G	151935721	3	3	386	1	0	0	0	0	1	0	0	0	9240	159	6	3	502	3	MAGEA3	23	151935721	Missense_Mutation	SNP	A	TCGA-DU-7010-01A-11D-2024-08	10645069	151935721	3334839	108	40162											
OPN1LW	5956	broad.mit.edu	37	chrX	153416330	153416330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacctagcagagaccgtcatCgccagcactatcagcattgt	11	8	9	13	2	2	1	2	0	0	1	3	3	2	1	3	0	3	3	3	0	2	3			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153416330C>T	ENST00000369951.4	+	2	375	c.315C>T	c.(313-315)atC>atT	p.I105I	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	105					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGACCGTCATCGCCAGCACTA	0.597													T	153416330	C	T	153416330	2	4	386	1	0	0	0	0	0	0	0	1	10953	874	31	1		1	OPN1LW	23	153416330	Silent	SNP	C	TCGA-DU-7010-01A-11D-2024-08	1480609	153416330	1854230	109	40163											
G6PD	2539	broad.mit.edu	37	chrX	153760890	153760890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcctcgttgggctgcacGcggatcaccagctcgttgcg	5	8	14	14	6	1	0	1	0	0	0	3	1	1	1	2	3	3	5	2	3	0	2			TCGA-DU-7010-01A-11D-2024-08	TCGA-DU-7010-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4e22253-010a-405d-bc82-72650f53d116	377d128d-3e55-4b68-941c-52cde4be5eaf	g.chrX:153760890G>A	ENST00000393562.2	-	10	1652	c.1269C>T	c.(1267-1269)cgC>cgT	p.R423R	G6PD_ENST00000369620.2_Silent_p.R439R|G6PD_ENST00000393564.2_Silent_p.R393R	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	393					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGGCTGCACGCGGATCACCA	0.612													A	153760890	G	A	153760890	2	1	386	1	0	0	0	0	0	0	0	1	6198	1074	38	1		1	G6PD	23	153760890	Silent	SNP	G	TCGA-DU-7010-01A-11D-2024-08	344560	153760890	1509670	110	40164											
WDR78	79819	broad.mit.edu	37	chr1	67370972	67370972	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacacagccattctgcttTgatttgcaccagtatatcct	9	14	7	11	0	1	1	0	1	1	0	2	2	2	2	3	1	3	3	3	1	2	5			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr1:67370972T>C	ENST00000371026.3	-	2	312	c.257A>G	c.(256-258)cAa>cGa	p.Q86R	WDR78_ENST00000371023.3_Missense_Mutation_p.Q86R|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Missense_Mutation_p.Q86R|WDR78_ENST00000488333.1_Missense_Mutation_p.Q14R	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	86										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CATTCTGCTTTGATTTGCACC	0.353													C	67370972	T	C	67370972	3	2	387	1	0	0	0	0	1	0	0	0	17430	1812	63	3	2410	3	WDR78	1	67370972	Missense_Mutation	SNP	T	TCGA-DU-7011-01A-11D-2024-08		67370972	181879649	1	40165											
CLIP4	79745	broad.mit.edu	37	chr2	29355042	29355042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagagaggttgcaatgtgAatgatagagatggattgaca	15	11	13	2	0	0	5	0	3	0	2	0	8	0	6	0	2	1	2	0	2	4	4			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:29355042A>G	ENST00000320081.5	+	4	553	c.298A>G	c.(298-300)Aat>Gat	p.N100D	CLIP4_ENST00000401605.1_Missense_Mutation_p.N100D|CLIP4_ENST00000404424.1_Missense_Mutation_p.N100D|CLIP4_ENST00000401617.2_5'UTR	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	100										endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTGCAATGTGAATGATAGAGA	0.378													G	29355042	A	G	29355042	3	3	387	1	0	0	0	0	1	0	0	0	3566	246	9	3	308	3	CLIP4	2	29355042	Missense_Mutation	SNP	A	TCGA-DU-7011-01A-11D-2024-08		29355042	213844331	2	40166											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	387	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08	179758070	209113112	34086261	3	40167											
MAP2	4133	broad.mit.edu	37	chr2	210560053	210560053	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgttaaaattagtgacttTggacagatggcttcagggct	11	13	12	5	0	1	2	1	1	0	1	1	4	1	3	0	3	0	3	0	3	3	4			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr2:210560053T>C	ENST00000360351.4	+	7	3665	c.3159T>C	c.(3157-3159)ttT>ttC	p.F1053F	MAP2_ENST00000447185.1_Silent_p.F1049F|MAP2_ENST00000361559.4_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000392194.1_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1053					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TTAGTGACTTTGGACAGATGG	0.468													C	210560053	T	C	210560053	2	2	387	1	0	0	0	0	0	0	0	1	9310	1809	63	3		3	MAP2	2	210560053	Silent	SNP	T	TCGA-DU-7011-01A-11D-2024-08	1446941	210560053	32639320	4	40168											
DCAF4L1	285429	broad.mit.edu	37	chr4	41984364	41984364	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttccagatcccagaggcCtggtcctgtgcgtggtccct	5	11	12	13	1	0	2	0	0	0	2	4	2	4	2	5	3	1	1	5	3	0	1			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr4:41984364C>A	ENST00000333141.5	+	1	652	c.555C>A	c.(553-555)gcC>gcA	p.A185A		NM_001029955.3	NP_001025126.2	Q3SXM0	DC4L1_HUMAN	DDB1 and CUL4 associated factor 4-like 1	185										breast(1)|endometrium(5)|kidney(6)|large_intestine(11)|lung(12)|prostate(1)|skin(1)	37						TCCCAGAGGCCTGGTCCTGTG	0.587													A	41984364	C	A	41984364	2	1	387	1	0	0	0	0	0	0	0	1	4305	668	24	4		4	DCAF4L1	4	41984364	Silent	SNP	C	TCGA-DU-7011-01A-11D-2024-08		41984364	149169912	5	40169											
UBR2	23304	broad.mit.edu	37	chr6	42631096	42631096	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaattcctttgcccccttTgtgaatgcttgagtaatact	9	15	8	9	0	0	3	0	2	0	1	1	4	1	3	3	0	3	2	3	0	4	6			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr6:42631096T>C	ENST00000372899.1	+	32	3895	c.3637T>C	c.(3637-3639)Tgt>Cgt	p.C1213R	UBR2_ENST00000372883.3_3'UTR|UBR2_ENST00000372901.1_Missense_Mutation_p.C1213R	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	1213					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			TTGCCCCCTTTGTGAATGCTT	0.378													C	42631096	T	C	42631096	3	2	387	1	0	0	0	0	1	0	0	0	17004	1812	63	3	3909	3	UBR2	6	42631096	Missense_Mutation	SNP	T	TCGA-DU-7011-01A-11D-2024-08		42631096	128483971	6	40170											
PCLO	27445	broad.mit.edu	37	chr7	82584494	82584494	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaagctttgtatttgtgTgttttatgcatcatttcttc	8	20	8	5	0	2	0	1	0	1	0	3	1	2	1	0	1	2	4	0	1	4	7			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr7:82584494T>C	ENST00000333891.9	-	5	6112	c.5775A>G	c.(5773-5775)acA>acG	p.T1925T	PCLO_ENST00000423517.2_Silent_p.T1925T	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTATTTGTGTGTTTTATGCA	0.358													C	82584494	T	C	82584494	2	2	387	1	0	0	0	0	0	0	0	1	11659	1683	59	3		3	PCLO	7	82584494	Silent	SNP	T	TCGA-DU-7011-01A-11D-2024-08		82584494	76554169	7	40171											
CPSF1	29894	broad.mit.edu	37	chr8	145619157	145619157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttgctgagcccttcagtgGccccccggcacggggtcctc	3	10	12	16	2	1	1	1	1	0	0	3	1	2	1	5	4	2	2	5	4	0	3			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr8:145619157G>A	ENST00000349769.3	-	35	4050	c.3956C>T	c.(3955-3957)gCc>gTc	p.A1319V	CPSF1_ENST00000531727.1_5'UTR	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	1319					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CCCTTCAGTGGCCCCCCGGCA	0.632													A	145619157	G	A	145619157	3	1	387	1	0	0	0	0	1	0	0	0	3855	1203	42	2	391	2	CPSF1	8	145619157	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		145619157	744865	8	40172											
OR5P2	120065	broad.mit.edu	37	chr11	7817817	7817817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtgcccctcagtggagcGcatcttcaggatggtgatga	7	10	15	9	1	3	2	2	2	1	0	3	4	3	4	2	4	2	1	2	4	0	1			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr11:7817817G>A	ENST00000329434.2	-	1	703	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153444.1	NP_703145.1	Q8WZ92	OR5P2_HUMAN	olfactory receptor, family 5, subfamily P, member 2	225					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R225C(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)	22				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TCAGTGGAGCGCATCTTCAGG	0.493													A	7817817	G	A	7817817	3	1	387	1	0	0	0	0	1	0	0	0	11254	1087	38	1	299	1	OR5P2	11	7817817	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		7817817	127188699	9	40173											
LAMP1	3916	broad.mit.edu	37	chr13	113960856	113960856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaatggcaacgggaccGcgtgcataatggccaacttc	13	7	11	10	3	0	1	0	1	0	0	1	2	0	2	2	3	3	2	2	3	5	2			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr13:113960856G>A	ENST00000332556.4	+	2	312	c.118G>A	c.(118-120)Gcg>Acg	p.A40T	LAMP1_ENST00000397181.3_Missense_Mutation_p.A40T	NM_005561.3	NP_005552.3	P11279	LAMP1_HUMAN	lysosomal-associated membrane protein 1	40	First lumenal domain.			VKNGNGTA -> MARGGRVR (in Ref. 6; AAA59524).		endosome membrane|integral to plasma membrane|lysosomal membrane|membrane fraction				NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|skin(1)|stomach(2)	16	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.025)|GBM - Glioblastoma multiforme(44;0.206)|Epithelial(84;0.246)			CAACGGGACCGCGTGCATAAT	0.507													A	113960856	G	A	113960856	3	1	387	1	0	0	0	0	1	0	0	0	8676	1087	38	1	124	1	LAMP1	13	113960856	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		113960856	1209022	10	40174											
CSPG4	1464	broad.mit.edu	37	chr15	75975277	75975277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcagcactacccgccCgttgctgggctgctcgatgg	4	7	12	18	4	0	0	0	0	0	0	1	1	0	0	4	2	4	6	4	2	1	2			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr15:75975277C>T	ENST00000308508.5	-	6	4647	c.4555G>A	c.(4555-4557)Ggg>Agg	p.G1519R		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1519	Gly/Ser-rich (glycosaminoglycan attachment domain).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						ACTACCCGCCCGTTGCTGGGC	0.697													T	75975277	C	T	75975277	3	4	387	1	0	0	0	0	1	0	0	0	3993	652	23	1	2433	1	CSPG4	15	75975277	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08		75975277	26556115	11	40175											
IL27	246778	broad.mit.edu	37	chr16	28513350	28513350	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcctcatggcccacaGctgcatcctctccatgttgg	6	10	9	16	0	2	0	1	0	1	0	5	0	4	0	5	2	3	3	5	2	0	1			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr16:28513350G>C	ENST00000356897.1	-	4	431	c.409C>G	c.(409-411)Ctg>Gtg	p.L137V		NM_145659.3	NP_663634.2	Q8NEV9	IL27A_HUMAN	interleukin 27	137					inflammatory response|innate immune response|positive regulation of interferon-gamma biosynthetic process|regulation of defense response to virus|regulation of T cell proliferation|regulation of T-helper 1 cell differentiation	extracellular space	cytokine activity|interleukin-27 receptor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	10						ATGGCCCACAGCTGCATCCTC	0.662													C	28513350	G	C	28513350	3	2	387	1	0	0	0	0	1	0	0	0	7738	962	34	4	330	4	IL27	16	28513350	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		28513350	61841403	12	40176											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	387	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08		7577094	73618116	13	40177											
SERPINB11	89778	broad.mit.edu	37	chr18	61377583	61377583	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaggggagagactgaagaGcaattggagaaggtatggaa	15	5	17	4	0	0	4	0	1	0	3	0	8	0	6	1	5	1	2	1	5	5	2			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr18:61377583G>A	ENST00000544088.1	+	0	218				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				AGACTGAAGAGCAATTGGAGA	0.438													A	61377583	G	A	61377583	1	1	387	0	1	0	0	0	0	0	0	0	14191	962	34	2		2	SERPINB11	18	61377583	RNA	SNP	G	TCGA-DU-7011-01A-11D-2024-08		61377583	16699665	14	40178											
EMR1	2015	broad.mit.edu	37	chr19	6926465	6926465	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctgtgatactgttctTgatggtcagaaacctgaagg	10	11	14	6	0	2	4	1	3	1	1	2	5	2	5	1	4	2	2	1	4	3	3			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr19:6926465T>C	ENST00000312053.4	+	16	2112	c.2075T>C	c.(2074-2076)tTg>tCg	p.L692S	EMR1_ENST00000381407.5_Missense_Mutation_p.L551S|EMR1_ENST00000450315.3_Missense_Mutation_p.L515S|EMR1_ENST00000250572.8_Missense_Mutation_p.L627S|EMR1_ENST00000381404.4_Missense_Mutation_p.L640S	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	692					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ATACTGTTCTTGATGGTCAGA	0.537													C	6926465	T	C	6926465	3	2	387	1	0	0	0	0	1	0	0	0	5145	1821	63	3	2137	3	EMR1	19	6926465	Missense_Mutation	SNP	T	TCGA-DU-7011-01A-11D-2024-08		6926465	52202518	15	40179											
CLTCL1	8218	broad.mit.edu	37	chr22	19197859	19197859	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgctgaggcattcatatCaaacttgtggaaaacggtga	13	11	11	6	1	2	2	2	2	0	0	2	4	2	3	0	3	3	2	0	3	4	4			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chr22:19197859C>A	ENST00000263200.10	-	20	3298	c.3226G>T	c.(3226-3228)Gat>Tat	p.D1076Y	CLTCL1_ENST00000353891.5_Missense_Mutation_p.D1076Y|CLTCL1_ENST00000427926.1_Missense_Mutation_p.D1076Y	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1076	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					GCATTCATATCAAACTTGTGG	0.552			T	?	ALCL								A	19197859	C	A	19197859	3	1	387	1	0	0	0	0	1	0	0	0	3598	826	29	4	1748	4	CLTCL1	22	19197859	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08		19197859	32106707	16	40180											
CLCN4	1183	broad.mit.edu	37	chrX	10180553	10180553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggctgtgggcgcgatagCgggcaggatggtgggaattg	7	8	20	6	3	0	0	0	0	0	0	0	3	0	2	0	6	1	2	0	6	2	2			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:10180553C>T	ENST00000380833.4	+	10	1827	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A385V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A448V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	479						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGCGCGATAGCGGGCAGGATG	0.577													T	10180553	C	T	10180553	3	4	387	1	0	0	0	0	1	0	0	0	3496	768	27	1	1466	1	CLCN4	23	10180553	Missense_Mutation	SNP	C	TCGA-DU-7011-01A-11D-2024-08		10180553	145090007	17	40181											
ATRX	546	broad.mit.edu	37	chrX	76849194	76849194	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaatttcctctgccattcGaagaatttcaaagagaagta	14	11	6	10	1	2	2	1	0	1	2	4	4	3	2	3	0	1	1	3	0	6	4			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76849194G>A	ENST00000373344.5	-	26	6296	c.6082C>T	c.(6082-6084)Cga>Tga	p.R2028*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1990*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2028	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)	TCTGCCATTCGAAGAATTTCA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76849194	G	A	76849194	4	1	387	1	0	0	0	0	0	1	0	0	1213	1066	37	1	1436	1	ATRX	23	76849194	Nonsense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08	66668641	76849194	78421366	18	40182											
ATRX	546	broad.mit.edu	37	chrX	76855019	76855019	+	Frame_Shift_Del	DEL	T	T	-																															cttccacttgagctactatcTtttttcccctttttcccttt																										TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76855019delT	ENST00000373344.5	-	25	6031	c.5817delA	c.(5815-5817)aaafs	p.K1939fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1901fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1939	Poly-Lys.				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)	AGCTACTATCTTTTTTCCCCT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76855019	T	-	76855019	7	5	387	1	0	1	0	1	0	0	0	0	1213	1606	56	0	1705	0	ATRX	23	76855019	Frame_Shift_Del	DEL	T	TCGA-DU-7011-01A-11D-2024-08	5825	76855019	78415541	19	40183											
ATRX	546	broad.mit.edu	37	chrX	76939496	76939496	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttacagcatccatcgctcGaaactcggaatttaagtctt	11	13	7	10	3	1	0	0	0	1	0	5	2	2	1	1	1	3	3	1	1	4	5			TCGA-DU-7011-01A-11D-2024-08	TCGA-DU-7011-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a998b8e9-3711-460c-8e4b-6597b6760a15	faf5593b-8173-4404-adef-379c03202b68	g.chrX:76939496G>A	ENST00000373344.5	-	9	1466	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R380*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	418					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)	TCCATCGCTCGAAACTCGGAA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939496	G	A	76939496	4	1	387	1	0	0	0	0	0	1	0	0	1213	1066	37	1	6334	1	ATRX	23	76939496	Nonsense_Mutation	SNP	G	TCGA-DU-7011-01A-11D-2024-08	84477	76939496	78331064	20	40184											
HSPG2	3339	broad.mit.edu	37	chr1	22201401	22201401	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacctggcaggacggcccacGgtacccgggtgggcaggagc	7	3	17	14	3	0	0	0	0	0	0	0	2	0	2	3	7	2	3	3	7	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:22201401G>A	ENST00000374695.3	-	26	3476	c.3397C>T	c.(3397-3399)Cgt>Tgt	p.R1133C		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1133	Laminin EGF-like 5; second part.			R -> L (in Ref. 6; AAB21121).	angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GACGGCCCACGGTACCCGGGT	0.697													A	22201401	G	A	22201401	3	1	388	1	0	0	0	0	1	0	0	0	7488	1116	39	1	10066	1	HSPG2	1	22201401	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		22201401	227049220	1	40185											
TRIM63	84676	broad.mit.edu	37	chr1	26387823	26387823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcccttctgcagcggcCgactgcagtggagaacagtc	8	7	13	13	2	1	1	0	0	1	1	2	4	1	1	2	2	5	2	2	2	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:26387823C>T	ENST00000374272.3	-	3	473	c.335G>A	c.(334-336)cGg>cAg	p.R112Q	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	112	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CTGCAGCGGCCGACTGCAGTG	0.592													T	26387823	C	T	26387823	3	4	388	1	0	0	0	0	1	0	0	0	16639	652	23	1	754	1	TRIM63	1	26387823	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	4186422	26387823	222862798	2	40186											
GPATCH3	63906	broad.mit.edu	37	chr1	27224101	27224101	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccacattccctctgggcatCagcactggtgggttcagctc	6	10	10	15	0	3	0	2	0	1	0	5	0	4	0	2	3	2	4	2	3	0	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr1:27224101C>T	ENST00000361720.5	-	2	590	c.567G>A	c.(565-567)ctG>ctA	p.L189L		NM_022078.2	NP_071361.2	Q96I76	GPTC3_HUMAN	G patch domain containing 3	189						intracellular	nucleic acid binding			endometrium(2)|large_intestine(1)|lung(11)|skin(1)	15		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.97e-51)|OV - Ovarian serous cystadenocarcinoma(117;9.55e-30)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|STAD - Stomach adenocarcinoma(196;0.000595)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTGGGCATCAGCACTGGTG	0.602													T	27224101	C	T	27224101	2	4	388	1	0	0	0	0	0	0	0	1	6646	813	29	2		2	GPATCH3	1	27224101	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	836278	27224101	222026520	3	40187											
ANKRD36	375248	broad.mit.edu	37	chr2	97867956	97867956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtgtcttctcagaaaccaCcagccttgaaggtaatgaaa	14	9	8	10	0	2	3	1	2	2	1	3	3	2	3	3	1	2	1	3	1	4	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr2:97867956C>T	ENST00000420699.2	+	47	3119	c.2875C>T	c.(2875-2877)Cca>Tca	p.P959S	ANKRD36_ENST00000461153.2_Missense_Mutation_p.P959S	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	959										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						TCAGAAACCACCAGCCTTGAA	0.333													T	97867956	C	T	97867956	3	4	388	1	0	0	0	0	1	0	0	0	665	507	18	2	3061	2	ANKRD36	2	97867956	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		97867956	145331417	4	40188											
VGLL4	9686	broad.mit.edu	37	chr3	11600065	11600065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggggagtgactgtggctgaCcatgtgggcagaggggctgg	6	7	22	6	0	0	3	0	2	0	1	0	4	0	4	1	7	0	3	1	7	0	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:11600065C>T	ENST00000273038.3	-	6	1203	c.838G>A	c.(838-840)Gtc>Atc	p.V280I	VGLL4_ENST00000430365.2_Missense_Mutation_p.V286I|VGLL4_ENST00000404339.1_Missense_Mutation_p.V285I|VGLL4_ENST00000413604.1_Missense_Mutation_p.V221I|VGLL4_ENST00000451674.2_Missense_Mutation_p.V200I|VGLL4_ENST00000424529.2_Missense_Mutation_p.V196I	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	280					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		CTGTGGCTGACCATGTGGGCA	0.622													T	11600065	C	T	11600065	3	4	388	1	0	0	0	0	1	0	0	0	17263	507	18	2	38	2	VGLL4	3	11600065	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		11600065	186422365	5	40189											
PRSS50	29122	broad.mit.edu	37	chr3	46755847	46755847	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttgaggaggccgatgtcGttggcctggcccacccagga	7	7	15	12	2	0	1	0	1	0	0	1	4	0	3	4	5	1	2	4	5	0	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:46755847G>A	ENST00000460241.1	-	9	2285	c.615C>T	c.(613-615)aaC>aaT	p.N205N	PRSS50_ENST00000315170.7_Silent_p.N205N			Q9UI38	TSP50_HUMAN	protease, serine, 50	205	Peptidase S1.				proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						GGCCGATGTCGTTGGCCTGGC	0.607													A	46755847	G	A	46755847	2	1	388	1	0	0	0	0	0	0	0	1	12716	1136	40	1		1	PRSS50	3	46755847	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	35155782	46755847	151266583	6	40190											
NIT2	56954	broad.mit.edu	37	chr3	100057936	100057936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttgttctcagctttcCgcttggccctcatccagctt	3	17	7	14	1	3	0	2	0	2	0	6	0	5	0	3	1	2	4	3	1	0	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr3:100057936C>T	ENST00000394140.4	+	2	104	c.13C>T	c.(13-15)Cgc>Tgc	p.R5C		NM_020202.4	NP_064587.1	Q9NQR4	NIT2_HUMAN	nitrilase family, member 2		CN hydrolase.				nitrogen compound metabolic process		omega-amidase activity			breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)	17						CTCAGCTTTCCGCTTGGCCCT	0.473													T	100057936	C	T	100057936	3	4	388	1	0	0	0	0	1	0	0	0	10510	652	23	1	19	1	NIT2	3	100057936	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	53302089	100057936	97964494	7	40191											
JAKMIP1	152789	broad.mit.edu	37	chr4	6043922	6043922	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccagcatcttctgggtcagGgcggcctcggtcccctctat	4	11	11	15	2	4	0	1	0	3	0	7	0	6	0	4	4	1	1	4	4	1	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:6043922G>A	ENST00000409021.3	-	17	2510	c.2061C>T	c.(2059-2061)gcC>gcT	p.A687A	JAKMIP1_ENST00000409371.3_Silent_p.A502A	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	458					protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TCTGGGTCAGGGCGGCCTCGG	0.547													A	6043922	G	A	6043922	2	1	388	1	0	0	0	0	0	0	0	1	7998	1219	43	2		2	JAKMIP1	4	6043922	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		6043922	185110354	8	40192											
ZCCHC4	29063	broad.mit.edu	37	chr4	25351255	25351255	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgctatgtggaaagaaggtCaaagccaaggtgtataattt	14	12	11	4	0	1	1	1	0	0	1	1	2	1	2	1	3	2	2	1	3	7	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:25351255C>T	ENST00000302874.4	+	7	925	c.901C>T	c.(901-903)Caa>Taa	p.Q301*	ZCCHC4_ENST00000505451.1_3'UTR	NM_024936.2	NP_079212.2	Q9H5U6	ZCHC4_HUMAN	zinc finger, CCHC domain containing 4	301							methyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)	9		Breast(46;0.0503)				GAAAGAAGGTCAAAGCCAAGG	0.378													T	25351255	C	T	25351255	4	4	388	1	0	0	0	0	0	1	0	0	17691	827	29	2	927	2	ZCCHC4	4	25351255	Nonsense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	19307333	25351255	165803021	9	40193											
AFM	173	broad.mit.edu	37	chr4	74352724	74352724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaacccatttgtcttcGcccctacacttctaactgtt	9	13	6	13	1	2	0	0	0	2	0	3	2	2	1	3	1	3	1	3	1	4	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr4:74352724G>A	ENST00000226355.3	+	5	616	c.523G>A	c.(523-525)Gcc>Acc	p.A175T		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	175	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATTTGTCTTCGCCCCTACACT	0.398													A	74352724	G	A	74352724	3	1	388	1	0	0	0	0	1	0	0	0	361	1087	38	1	541	1	AFM	4	74352724	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	49001469	74352724	116801552	10	40194											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744613	140744613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcgacgcaaacgacaatgCgcccctgttcaccccatccg	9	6	7	19	5	1	0	1	0	0	0	3	2	2	0	6	0	2	2	6	0	2	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:140744613C>T	ENST00000518069.1	+	1	716	c.716C>T	c.(715-717)gCg>gTg	p.A239V	PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACGACAATGCGCCCCTGTTC	0.587													T	140744613	C	T	140744613	3	4	388	1	0	0	0	0	1	0	0	0	11633	768	27	1	718	1	PCDHGA5	5	140744613	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		140744613	40170647	11	40195											
FAT2	2196	broad.mit.edu	37	chr5	150921911	150921911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccagggtctttagagtcGccaccagttcgccaggctca	8	9	10	14	2	2	1	1	0	1	1	5	1	3	1	4	2	0	2	4	2	1	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr5:150921911G>A	ENST00000261800.5	-	9	8789	c.8777C>T	c.(8776-8778)gCg>gTg	p.A2926V		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2926	Cadherin 26.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTTTAGAGTCGCCACCAGTTC	0.507													A	150921911	G	A	150921911	3	1	388	1	0	0	0	0	1	0	0	0	5739	1087	38	1	4332	1	FAT2	5	150921911	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	10177298	150921911	29993349	12	40196											
TMEM217	221468	broad.mit.edu	37	chr6	37186593	37186593	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggatggtgatgaaagAcaggaagaggacgattttaa	16	8	15	2	1	0	5	0	3	0	2	0	10	0	8	0	4	0	0	0	4	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:37186593A>G	ENST00000336655.2	-	2	253	c.214T>C	c.(214-216)Tct>Cct	p.S72P	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.S72P	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	72						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						GTGATGAAAGACAGGAAGAGG	0.438													G	37186593	A	G	37186593	3	3	388	1	0	0	0	0	1	0	0	0	16240	275	10	3	487	3	TMEM217	6	37186593	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08		37186593	133928474	13	40197											
DPPA5	340168	broad.mit.edu	37	chr6	74063752	74063752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggattcgagatccgtccGggcctgttggggaaaagaga	11	7	16	7	3	0	2	0	0	0	2	3	6	2	4	3	4	0	1	3	4	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr6:74063752G>A	ENST00000370370.3	-	2	185	c.116C>T	c.(115-117)cCg>cTg	p.P39L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	39	KH; atypical.				multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						AGATCCGTCCGGGCCTGTTGG	0.612													A	74063752	G	A	74063752	3	1	388	1	0	0	0	0	1	0	0	0	4776	1116	39	1	242	1	DPPA5	6	74063752	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	36877159	74063752	97051315	14	40198											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151	by1000genomes	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													GCC	1586663	-	GCC	1586662	7	5	388	1	0	1	1	0	0	0	0	0	16204	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-DU-7012-01A-11D-2024-08		1586662	157552001	15	40199											
MACC1	346389	broad.mit.edu	37	chr7	20197969	20197969	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagggacagatgtgagtaaCccaggacatcagctaaaact	15	6	10	10	0	1	2	1	1	0	1	1	4	1	4	2	2	3	2	2	2	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:20197969C>A	ENST00000400331.5	-	5	2323	c.2015G>T	c.(2014-2016)gGt>gTt	p.G672V	MACC1_ENST00000332878.4_Missense_Mutation_p.G672V|MACC1_ENST00000589011.1_Missense_Mutation_p.G672V	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	672					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						ATGTGAGTAACCCAGGACATC	0.338													A	20197969	C	A	20197969	3	1	388	1	0	0	0	0	1	0	0	0	9214	507	18	4	555	4	MACC1	7	20197969	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	18611307	20197969	138940694	16	40200											
EGFR	1956	broad.mit.edu	37	chr7	55221723	55221723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgccgcaaattccgagAcgaagccacgtgcaaggaca	12	5	12	12	4	1	1	0	0	1	1	2	4	2	2	3	2	3	2	3	2	3	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:55221723A>G	ENST00000275493.2	+	7	944	c.767A>G	c.(766-768)gAc>gGc	p.D256G	EGFR_ENST00000420316.2_Missense_Mutation_p.D256G|EGFR_ENST00000454757.2_Missense_Mutation_p.D203G|EGFR_ENST00000344576.2_Missense_Mutation_p.D256G|EGFR_ENST00000455089.1_Missense_Mutation_p.D211G|EGFR_ENST00000442591.1_Missense_Mutation_p.D256G|EGFR_ENST00000342916.3_Missense_Mutation_p.D256G	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	256					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.D256A(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAATTCCGAGACGAAGCCACG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55221723	A	G	55221723	3	3	388	1	0	0	0	0	1	0	0	0	5006	275	10	3	793	3	EGFR	7	55221723	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	35023754	55221723	103916940	17	40201											
WBSCR28	135886	broad.mit.edu	37	chr7	73280003	73280003	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccctcacctcctggcacCtggcctatctcatcacctgg	5	10	7	19	0	3	0	3	0	1	0	5	0	4	0	6	3	1	1	6	3	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:73280003C>T	ENST00000320531.2	+	3	634	c.598C>T	c.(598-600)Ctg>Ttg	p.L200L		NM_182504.3	NP_872310.2	Q6UE05	WBS28_HUMAN	Williams-Beuren syndrome chromosome region 28	200						integral to membrane				breast(2)|kidney(2)|lung(6)|skin(1)	11		Lung NSC(55;0.159)				CTCCTGGCACCTGGCCTATCT	0.612													T	73280003	C	T	73280003	2	4	388	1	0	0	0	0	0	0	0	1	17369	680	24	2		2	WBSCR28	7	73280003	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	18058280	73280003	85858660	18	40202											
ABCB4	5244	broad.mit.edu	37	chr7	87104712	87104712	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggatgtacctgctgatgcCcagttcaaagtcgccctccg	7	9	12	13	2	1	1	1	1	0	0	3	2	2	2	4	2	3	3	4	2	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:87104712C>G	ENST00000265723.4	-	2	181	c.70G>C	c.(70-72)Ggc>Cgc	p.G24R	ABCB4_ENST00000359206.3_Missense_Mutation_p.G24R|ABCB4_ENST00000453593.1_Missense_Mutation_p.G24R|ABCB4_ENST00000545634.1_Missense_Mutation_p.G24R|ABCB4_ENST00000358400.3_Missense_Mutation_p.G24R	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	24					cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					CTGCTGATGCCCAGTTCAAAG	0.547													G	87104712	C	G	87104712	3	3	388	1	0	0	0	0	1	0	0	0	43	623	22	4	3898	4	ABCB4	7	87104712	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	13824709	87104712	72033951	19	40203											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838183	92838183	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattcacttgaagtccataaGgtccatctgcatcaatataa	15	12	5	9	0	3	1	2	1	1	0	5	1	5	1	2	1	1	1	2	1	6	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:92838183G>T	ENST00000394468.2	-	4	799	c.722C>A	c.(721-723)cCt>cAt	p.P241H	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.P229H|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.P229H|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.P264H	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	241	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						AAGTCCATAAGGTCCATCTGC	0.358													T	92838183	G	T	92838183	3	4	388	1	0	0	0	0	1	0	0	0	7108	1000	35	4	694	4	HEPACAM2	7	92838183	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	5733471	92838183	66300480	20	40204											
UFSP1	402682	broad.mit.edu	37	chr7	100486857	100486857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccacgcagccgatccagtcCcgggagccccggaagccggg	7	3	14	17	5	0	0	0	0	0	0	3	3	3	2	7	3	3	1	7	3	1	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100486857C>T	ENST00000388761.2	-	1	482	c.36G>A	c.(34-36)cgG>cgA	p.R12R		NM_001015072.3	NP_001015072.2	Q6NVU6	UFSP1_HUMAN	UFM1-specific peptidase 1 (non-functional)	12										lung(1)|stomach(1)	2	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGATCCAGTCCCGGGAGCCCC	0.751													T	100486857	C	T	100486857	2	4	388	1	0	0	0	0	0	0	0	1	17039	610	22	2		2	UFSP1	7	100486857	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	7648674	100486857	58651806	21	40205											
MUC17	140453	broad.mit.edu	37	chr7	100683975	100683975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctacacctgctgaaggtaCcagcatgccaatctcaactt	11	10	6	14	0	1	1	1	1	1	0	3	1	2	1	4	1	6	3	4	1	5	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:100683975C>T	ENST00000306151.4	+	3	9342	c.9278C>T	c.(9277-9279)aCc>aTc	p.T3093I		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3093	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)					GCTGAAGGTACCAGCATGCCA	0.493													T	100683975	C	T	100683975	3	4	388	1	0	0	0	0	1	0	0	0	10050	507	18	2	9288	2	MUC17	7	100683975	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	197118	100683975	58454688	22	40206											
CFTR	1080	broad.mit.edu	37	chr7	117267621	117267621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agttcattgacatgccaacaGaaggtaaacctaccaagtca	16	8	7	10	0	2	2	2	1	0	1	2	2	2	2	3	1	4	2	3	1	6	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:117267621G>A	ENST00000003084.6	+	22	3646	c.3514G>A	c.(3514-3516)Gaa>Aaa	p.E1172K	AC000111.6_ENST00000456270.1_RNA|CFTR_ENST00000454343.1_Missense_Mutation_p.E1111K	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	1172					respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	CATGCCAACAGAAGGTAAACC	0.368									Cystic Fibrosis				A	117267621	G	A	117267621	3	1	388	1	0	0	0	0	1	0	0	0	3324	943	33	2	3600	2	CFTR	7	117267621	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	16583646	117267621	41871042	23	40207											
MGAM	8972	broad.mit.edu	37	chr7	141708343	141708343	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	actggtaccccagatcctggGacaactggtaccccagatcc	10	7	9	15	0	0	2	0	0	0	2	2	3	2	3	6	3	3	2	6	3	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr7:141708343G>A	ENST00000475668.2	+	3	219	c.165G>A	c.(163-165)ggG>ggA	p.G55G	MGAM_ENST00000549489.2_Silent_p.G55G			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	55	Ser/Thr-rich.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CAGATCCTGGGACAACTGGTA	0.473													A	141708343	G	A	141708343	2	1	388	1	0	0	0	0	0	0	0	1	9616	1161	41	2		2	MGAM	7	141708343	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	24440722	141708343	17430320	24	40208											
FUT10	84750	broad.mit.edu	37	chr8	33318925	33318925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagacggtggctgtgaCgcacaggcaagatgccaaaa	15	4	13	9	2	0	4	0	1	0	3	0	4	0	4	1	3	1	3	1	3	4	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:33318925C>T	ENST00000327671.5	-	2	677	c.46G>A	c.(46-48)Gtc>Atc	p.V16I	FUT10_ENST00000524021.1_Intron|FUT10_ENST00000518672.1_Intron|FUT10_ENST00000335589.3_5'UTR	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	16					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity	p.V16F(1)		cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		GTGGCTGTGACGCACAGGCAA	0.552													T	33318925	C	T	33318925	3	4	388	1	0	0	0	0	1	0	0	0	6154	536	19	1	1409	1	FUT10	8	33318925	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		33318925	113045097	25	40209											
CHMP4C	92421	broad.mit.edu	37	chr8	82667660	82667660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagagcaacaggatatcGcccaagaaatctcagaagca	17	5	8	11	1	2	3	2	0	1	3	4	4	2	4	1	1	3	2	1	1	5	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr8:82667660G>A	ENST00000297265.4	+	3	617	c.424G>A	c.(424-426)Gcc>Acc	p.A142T		NM_152284.3	NP_689497.1	Q96CF2	CHM4C_HUMAN	charged multivesicular body protein 4C	142	Intramolecular interaction with C- terminus (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|late endosome membrane	protein binding			NS(1)|breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	10						ACAGGATATCGCCCAAGAAAT	0.378													A	82667660	G	A	82667660	3	1	388	1	0	0	0	0	1	0	0	0	3388	1087	38	1	434	1	CHMP4C	8	82667660	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	49348735	82667660	63696362	26	40210											
DMRT2	10655	broad.mit.edu	37	chr9	1056823	1056823	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcctgagatccagacCacgagaagtgaccttcaggg	12	6	10	13	1	1	4	1	2	0	3	3	6	3	4	4	1	0	0	4	1	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:1056823C>T	ENST00000382251.3	+	5	1565	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	DMRT2_ENST00000382255.3_3'UTR|DMRT2_ENST00000259622.6_3'UTR|DMRT2_ENST00000358146.2_Silent_p.T412T|DMRT2_ENST00000302441.6_Silent_p.T412T			Q9Y5R5	DMRT2_HUMAN	doublesex and mab-3 related transcription factor 2	412					male gonad development|sex determination	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(1)|prostate(2)	4		all_lung(10;1.49e-09)|Lung NSC(10;1.86e-09)		Lung(218;0.0195)|GBM - Glioblastoma multiforme(50;0.0388)		AGATCCAGACCACGAGAAGTG	0.577													T	1056823	C	T	1056823	2	4	388	1	0	0	0	0	0	0	0	1	4625	581	21	2		2	DMRT2	9	1056823	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		1056823	140156608	27	40211											
SLC27A4	10999	broad.mit.edu	37	chr9	131118036	131118036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aactgcccctgtatgcgcgcCccatcttcctgcgcctcctg	4	10	8	19	3	1	0	0	0	1	0	3	0	3	0	7	0	4	1	7	0	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:131118036C>T	ENST00000300456.4	+	12	1852	c.1735C>T	c.(1735-1737)Ccc>Tcc	p.P579S	SLC27A4_ENST00000372870.1_Missense_Mutation_p.P173S	NM_005094.3	NP_005085.2	Q6P1M0	S27A4_HUMAN	solute carrier family 27 (fatty acid transporter), member 4						long-chain fatty acid transport|transmembrane transport	integral to membrane	fatty acid transporter activity|nucleotide binding|protein binding			autonomic_ganglia(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(2)	13						GTATGCGCGCCCCATCTTCCT	0.637													T	131118036	C	T	131118036	3	4	388	1	0	0	0	0	1	0	0	0	14622	623	22	2	1777	2	SLC27A4	9	131118036	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	130061213	131118036	10095395	28	40212											
MRPL41	64975	broad.mit.edu	37	chr9	140446796	140446796	+	Frame_Shift_Del	DEL	C	C	-																															cgaggagacgcccctgacggCcgcgcagctcttcagcgaag																								rs11555676		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr9:140446796delC	ENST00000371443.5	+	2	1051	c.263delC	c.(262-264)gccfs	p.A89fs		NM_032477.2	NP_115866.1	Q8IXM3	RM41_HUMAN	mitochondrial ribosomal protein L41	89					apoptosis|cell cycle|translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			breast(1)|lung(1)	2	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000415)|Epithelial(140;0.00106)		CCCCTGACGGCCGCGCAGCTC	0.627													-	140446796	C	-	140446796	7	5	388	1	0	1	0	1	0	0	0	0	9881	739	26	0	265	0	MRPL41	9	140446796	Frame_Shift_Del	DEL	C	TCGA-DU-7012-01A-11D-2024-08	9328760	140446796	766635	29	40213											
PTEN	5728	broad.mit.edu	37	chr10	89720813	89720813	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctagtacttactttaacaAaaaatgatcttgacaaagca	18	12	4	7	0	2	2	0	2	2	0	2	2	2	2	0	0	4	2	0	0	8	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr10:89720813A>G	ENST00000371953.3	+	8	2321	c.964A>G	c.(964-966)Aaa>Gaa	p.K322E	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	322	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.T321fs*3(7)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319_K332del(1)|p.T321fs*22(1)|p.G165_*404del(1)|p.N323fs*21(1)|p.L316fs*1(1)|p.W274_F341del(1)|p.V317_K322del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TACTTTAACAAAAAATGATCT	0.323		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89720813	A	G	89720813	3	3	388	1	0	0	0	0	1	0	0	0	12823	15	1	3	994	3	PTEN	10	89720813	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08		89720813	45813934	30	40214											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629398	1629398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggagccacagccccccttgCagcccccacaagagccacag	11	2	9	19	0	0	1	0	0	0	1	0	2	0	2	7	1	5	1	7	1	1	1	rs7125831		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:1629398C>G	ENST00000399685.1	-	1	295	c.218G>C	c.(217-219)tGc>tCc	p.C73S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	73	11 X 4 AA repeats of C-C-X-P.		C -> S (in dbSNP:rs7125831).			keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GCCCCCCTTGCAGCCCCCACA	0.677													G	1629398	C	G	1629398	3	3	388	1	0	0	0	0	1	0	0	0	8621	710	25	4	502	4	KRTAP5-3	11	1629398	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		1629398	133377118	31	40215											
OR51L1	119682	broad.mit.edu	37	chr11	5020872	5020872	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcatacttctttcttaTgttctgattcttaatactgt	8	22	3	8	0	6	1	1	1	5	0	6	1	6	1	0	0	2	1	0	0	4	9			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:5020872T>C	ENST00000321543.1	+	1	660	c.660T>C	c.(658-660)taT>taC	p.Y220Y		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTCTTTCTTATGTTCTGATTC	0.403													C	5020872	T	C	5020872	2	2	388	1	0	0	0	0	0	0	0	1	11178	1471	51	3		3	OR51L1	11	5020872	Silent	SNP	T	TCGA-DU-7012-01A-11D-2024-08	3391474	5020872	129985644	32	40216											
OR5M3	219482	broad.mit.edu	37	chr11	56237331	56237331	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaggatgaataagtaagAgatgataattacagtcaggg	18	9	12	2	0	1	4	1	3	0	1	1	6	1	5	0	2	1	1	0	2	6	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:56237331A>T	ENST00000312240.2	-	1	683	c.643T>A	c.(643-645)Tct>Act	p.S215T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					AATAAGTAAGAGATGATAATT	0.428													T	56237331	A	T	56237331	3	4	388	1	0	0	0	0	1	0	0	0	11251	304	11	5	282	5	OR5M3	11	56237331	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	51216459	56237331	78769185	33	40217											
MS4A7	58475	broad.mit.edu	37	chr11	60152680	60152680	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgatgtctgggtacccattTttaggagctctgtgtgtgag	6	16	13	6	0	2	2	0	2	2	0	2	3	2	3	1	2	2	2	1	2	2	5			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:60152680T>C	ENST00000300184.3	+	3	463	c.267T>C	c.(265-267)ttT>ttC	p.F89F	MS4A14_ENST00000531787.1_Intron|MS4A7_ENST00000358246.1_Intron|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000530234.2_Silent_p.F89F	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	89						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						GGTACCCATTTTTAGGAGCTC	0.483													C	60152680	T	C	60152680	2	2	388	1	0	0	0	0	0	0	0	1	9942	1838	64	3		3	MS4A7	11	60152680	Silent	SNP	T	TCGA-DU-7012-01A-11D-2024-08	3915349	60152680	74853836	34	40218											
TSGA10IP	254187	broad.mit.edu	37	chr11	65714852	65714852	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgtctccatccctactGgcaaaggggagctaggatca	9	8	13	11	1	2	0	1	0	1	0	4	2	3	2	2	5	2	2	2	5	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:65714852G>A	ENST00000608857.1	+	0	556				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CATCCCTACTGGCAAAGGGGA	0.637													A	65714852	G	A	65714852	1	1	388	0	1	0	0	0	0	0	0	0	16719	1348	47	2		2	TSGA10IP	11	65714852	RNA	SNP	G	TCGA-DU-7012-01A-11D-2024-08	5562172	65714852	69291664	35	40219											
PGR	5241	broad.mit.edu	37	chr11	100998773	100998773	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacgaggcacagggtgaactCcgcggcggggcaaaggcgct	9	3	18	11	5	0	1	0	1	0	0	1	3	1	1	1	6	1	3	1	6	2	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:100998773C>A	ENST00000325455.5	-	1	2482	c.1029G>T	c.(1027-1029)cgG>cgT	p.R343R	PGR_ENST00000263463.5_Silent_p.R343R|PGR_ENST00000534013.1_Intron	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	343	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	AGGGTGAACTCCGCGGCGGGG	0.687													A	100998773	C	A	100998773	2	1	388	1	0	0	0	0	0	0	0	1	11882	842	30	4		4	PGR	11	100998773	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	35283921	100998773	34007743	36	40220											
DDI1	414301	broad.mit.edu	37	chr11	103907873	103907873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggacgtccagctcccGtccacagcaccctggacagc	7	5	11	18	2	0	0	0	0	0	0	3	2	3	2	5	2	3	2	5	2	0	0	rs138983347		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:103907873G>A	ENST00000302259.3	+	1	566	c.323G>A	c.(322-324)cGt>cAt	p.R108H	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	108					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		TCCAGCTCCCGTCCACAGCAC	0.672													A	103907873	G	A	103907873	3	1	388	1	0	0	0	0	1	0	0	0	4362	1145	40	1	325	1	DDI1	11	103907873	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	2909100	103907873	31098643	37	40221											
ANKK1	255239	broad.mit.edu	37	chr11	113269791	113269791	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggtcacccccctccActtcctggtggcccagggca	8	6	10	17	0	1	0	1	0	0	0	3	1	3	0	6	4	1	1	6	4	2	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr11:113269791A>C	ENST00000303941.3	+	8	1194	c.1100A>C	c.(1099-1101)cAc>cCc	p.H367P		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	367			H -> Q (in dbSNP:rs34298987).				ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		ACCCCCCTCCACTTCCTGGTG	0.597													C	113269791	A	C	113269791	3	2	388	1	0	0	0	0	1	0	0	0	631	159	6	5	1130	5	ANKK1	11	113269791	Missense_Mutation	SNP	A	TCGA-DU-7012-01A-11D-2024-08	9361918	113269791	21736725	38	40222											
ADAMTS20	80070	broad.mit.edu	37	chr12	43840498	43840498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcactggagtttaacacGtgatcacaaccagctgcctt	10	11	9	11	1	1	1	1	1	0	0	1	2	1	2	2	2	4	3	2	2	2	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:43840498G>A	ENST00000389420.3	-	15	2096	c.2097C>T	c.(2095-2097)caC>caT	p.H699H	ADAMTS20_ENST00000553158.1_Silent_p.H699H	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	699	Cys-rich.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		AGTTTAACACGTGATCACAAC	0.373													A	43840498	G	A	43840498	2	1	388	1	0	0	0	0	0	0	0	1	266	1136	40	1		1	ADAMTS20	12	43840498	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		43840498	90011397	39	40223											
ASCL1	429	broad.mit.edu	37	chr12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA																															gcagcggcagcgcagagcgcINSgcagcagcagcagcagcagc																								rs71438488		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													GCA	103352172	-	GCA	103352171	7	5	388	1	0	1	1	0	0	0	0	0	1039	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-DU-7012-01A-11D-2024-08	59511673	103352171	30499724	40	40224											
BTBD11	121551	broad.mit.edu	37	chr12	108008868	108008868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcataaatatccatccGtccaccccgagacccgccat	10	8	4	19	3	1	1	1	0	0	1	5	2	5	1	8	0	0	0	8	0	3	2	rs151233634		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr12:108008868G>A	ENST00000280758.5	+	7	2458	c.1930G>A	c.(1930-1932)Gtc>Atc	p.V644I	BTBD11_ENST00000490090.2_Missense_Mutation_p.V644I|BTBD11_ENST00000357167.4_Missense_Mutation_p.V181I|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000420571.2_Missense_Mutation_p.V644I	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	644						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						ATATCCATCCGTCCACCCCGA	0.413													A	108008868	G	A	108008868	3	1	388	1	0	0	0	0	1	0	0	0	1548	1145	40	1	2061	1	BTBD11	12	108008868	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	4656697	108008868	25843027	41	40225											
ATP8A2	51761	broad.mit.edu	37	chr13	26273415	26273415	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccacaccctgaagtacgcGctctccttcgaagtccggag	8	7	11	15	4	1	1	0	1	1	0	4	3	2	2	4	2	1	2	4	2	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr13:26273415G>A	ENST00000381655.2	+	25	2458	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.A732A	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	732					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		TGAAGTACGCGCTCTCCTTCG	0.552													A	26273415	G	A	26273415	2	1	388	1	0	0	0	0	0	0	0	1	1198	1074	38	1		1	ATP8A2	13	26273415	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		26273415	88896463	42	40226											
CLEC14A	161198	broad.mit.edu	37	chr14	38724436	38724436	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcaaagcctcccaagtcGtctaggcagttagggagctc	10	7	12	12	1	1	0	0	0	1	0	4	1	2	1	2	3	2	4	2	3	4	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:38724436G>A	ENST00000342213.2	-	1	1138	c.792C>T	c.(790-792)gaC>gaT	p.D264D		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	264	EGF-like.					integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		CTCCCAAGTCGTCTAGGCAGT	0.637													A	38724436	G	A	38724436	2	1	388	1	0	0	0	0	0	0	0	1	3530	1136	40	1		1	CLEC14A	14	38724436	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08		38724436	68625104	43	40227											
INF2	64423	broad.mit.edu	37	chr14	105174336	105174336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgccatccaacgtggcaCgtggtgagggtccccagacc	8	6	13	14	2	0	2	0	1	0	1	2	2	2	2	5	3	3	2	5	3	1	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr14:105174336C>T	ENST00000392634.4	+	8	1844	c.1732C>T	c.(1732-1734)Cgt>Tgt	p.R578C	INF2_ENST00000330634.7_Missense_Mutation_p.R578C	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	578	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAACGTGGCACGTGGTGAGGG	0.647													T	105174336	C	T	105174336	3	4	388	1	0	0	0	0	1	0	0	0	7792	536	19	1	1762	1	INF2	14	105174336	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	66449900	105174336	2175204	44	40228											
VPS13C	54832	broad.mit.edu	37	chr15	62238562	62238562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataatatctttaagtctggCaaacacatcagtctgcttag	13	14	6	8	0	4	0	1	0	3	0	4	0	4	0	0	1	2	2	0	1	6	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:62238562C>T	ENST00000261517.5	-	44	4997	c.4924G>A	c.(4924-4926)Gcc>Acc	p.A1642T	VPS13C_ENST00000395896.4_Missense_Mutation_p.A1642T|VPS13C_ENST00000249837.3_Missense_Mutation_p.A1599T|VPS13C_ENST00000395898.3_Missense_Mutation_p.A1599T	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1642					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TTAAGTCTGGCAAACACATCA	0.318													T	62238562	C	T	62238562	3	4	388	1	0	0	0	0	1	0	0	0	17293	710	25	2	6533	2	VPS13C	15	62238562	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08		62238562	40292830	45	40229											
MFGE8	4240	broad.mit.edu	37	chr15	89453060	89453060	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgtagcccttaaggcaCgtgcaggtgtacgaggggaa	9	6	15	11	4	0	0	0	0	0	0	0	2	0	1	2	4	3	4	2	4	4	3	rs138080885	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr15:89453060C>T	ENST00000539437.1	-	3	280	c.144G>A	c.(142-144)acG>acA	p.T48T	MFGE8_ENST00000542878.1_Intron|MFGE8_ENST00000566497.1_Silent_p.T56T|MFGE8_ENST00000559997.1_Intron|MFGE8_ENST00000268150.8_Silent_p.T56T|MFGE8_ENST00000268151.7_Silent_p.T56T			Q08431	MFGM_HUMAN	milk fat globule-EGF factor 8 protein	56	EGF-like.				angiogenesis|cell adhesion|interspecies interaction between organisms|single fertilization					breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|stomach(4)|upper_aerodigestive_tract(1)	22	Lung NSC(78;0.0392)|all_lung(78;0.077)					CCTTAAGGCACGTGCAGGTGT	0.557													T	89453060	C	T	89453060	2	4	388	1	0	0	0	0	0	0	0	1	9595	523	19	1		1	MFGE8	15	89453060	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	27214498	89453060	13078332	46	40230											
RGS11	8786	broad.mit.edu	37	chr16	321439	321439	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactcgggtcctgcccagCgctttcctgaagtactcgat	6	12	9	14	3	1	1	1	1	0	0	5	2	3	1	3	1	3	2	3	1	2	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:321439C>T	ENST00000397770.3	-	11	725	c.708G>A	c.(706-708)gcG>gcA	p.A236A	RGS11_ENST00000316163.5_Silent_p.A215A|ARHGDIG_ENST00000464609.1_Intron|RGS11_ENST00000359740.5_Silent_p.A225A			O94810	RGS11_HUMAN	regulator of G-protein signaling 11	236	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|lung(4)|ovary(1)|pancreas(1)	8		all_cancers(16;6.71e-07)|all_epithelial(16;1.59e-06)|Hepatocellular(16;0.000105)|Lung NSC(18;0.00769)|all_lung(18;0.0186)				TCCTGCCCAGCGCTTTCCTGA	0.647													T	321439	C	T	321439	2	4	388	1	0	0	0	0	0	0	0	1	13383	755	27	1		1	RGS11	16	321439	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		321439	90033314	47	40231											
POLR2C	5432	broad.mit.edu	37	chr16	57504027	57504027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaggcacacagtgtacccCaagcccgaggaatggtatgt	11	7	12	11	1	0	1	0	1	0	0	0	3	0	2	3	3	2	3	3	3	4	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr16:57504027C>T	ENST00000219252.5	+	7	932	c.594C>T	c.(592-594)ccC>ccT	p.P198P	POLR2C_ENST00000564651.1_3'UTR	NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	198					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						CAGTGTACCCCAAGCCCGAGG	0.537													T	57504027	C	T	57504027	2	4	388	1	0	0	0	0	0	0	0	1	12293	581	21	2		2	POLR2C	16	57504027	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	57182588	57504027	32850726	48	40232											
MYOCD	93649	broad.mit.edu	37	chr17	12655924	12655924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcttcctcttctaccaGtgccctgtccaacggcttct	5	13	6	17	1	4	0	0	0	4	0	6	0	6	0	5	1	3	1	5	1	2	4			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:12655924G>C	ENST00000425538.1	+	10	1519	c.1319G>C	c.(1318-1320)aGt>aCt	p.S440T	AC005358.1_ENST00000609971.1_Missense_Mutation_p.S344T|MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.S440T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	440	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTTCTACCAGTGCCCTGTCC	0.587													C	12655924	G	C	12655924	3	2	388	1	0	0	0	0	1	0	0	0	10163	1029	36	4	1357	4	MYOCD	17	12655924	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		12655924	68539286	49	40233											
GPR179	440435	broad.mit.edu	37	chr17	36487200	36487200	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgaggagccggcggCgggaggagccgggcaggctg	6	3	23	9	4	0	1	0	1	0	0	0	5	0	5	2	8	3	3	2	8	0	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr17:36487200C>T	ENST00000342292.4	-	11	2272	c.2252G>A	c.(2251-2253)cGc>cAc	p.R751H		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	751						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGCCGGCGGCGGGAGGAGCC	0.697													T	36487200	C	T	36487200	3	4	388	1	0	0	0	0	1	0	0	0	6728	768	27	1	4855	1	GPR179	17	36487200	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	23831276	36487200	44708010	50	40234											
NFATC1	4772	broad.mit.edu	37	chr18	77170697	77170697	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttccacgatgtggaggTggaagacgtcctccctagct	7	12	12	10	2	0	1	0	0	0	1	3	4	3	3	3	3	1	2	3	3	2	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr18:77170697T>A	ENST00000253506.5	+	2	791	c.422T>A	c.(421-423)gTg>gAg	p.V141E	NFATC1_ENST00000329101.4_Missense_Mutation_p.V128E|NFATC1_ENST00000318065.5_Missense_Mutation_p.V128E|NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000427363.2_Missense_Mutation_p.V141E|NFATC1_ENST00000586434.1_Missense_Mutation_p.V128E|NFATC1_ENST00000592223.1_Missense_Mutation_p.V128E|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V141E|NFATC1_ENST00000542384.1_Missense_Mutation_p.V141E|NFATC1_ENST00000591814.1_Missense_Mutation_p.V141E	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	141	Trans-activation domain A (TAD-A).				intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		GATGTGGAGGTGGAAGACGTC	0.627													A	77170697	T	A	77170697	3	1	388	1	0	0	0	0	1	0	0	0	10437	1696	59	5	520	5	NFATC1	18	77170697	Missense_Mutation	SNP	T	TCGA-DU-7012-01A-11D-2024-08		77170697	906551	51	40235											
FBN3	84467	broad.mit.edu	37	chr19	8191627	8191627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtaccagaggggtccagccGgctgccagggccacatttgc	7	6	15	13	1	0	1	0	0	0	1	1	1	1	1	5	5	4	2	5	5	1	2	rs113517176		TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:8191627G>A	ENST00000600128.1	-	19	2800	c.2386C>T	c.(2386-2388)Cgg>Tgg	p.R796W	FBN3_ENST00000270509.2_Missense_Mutation_p.R796W|FBN3_ENST00000601739.1_Missense_Mutation_p.R796W			Q75N90	FBN3_HUMAN	fibrillin 3	796	EGF-like 10; 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						GGGTCCAGCCGGCTGCCAGGG	0.657													A	8191627	G	A	8191627	3	1	388	1	0	0	0	0	1	0	0	0	5753	1115	39	1	6227	1	FBN3	19	8191627	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		8191627	50937356	52	40236											
CACNA1A	773	broad.mit.edu	37	chr19	13565980	13565980	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgctccagtgcgaggaCgatgcaattcgctatgatgg	9	10	13	9	3	0	1	0	1	0	0	2	4	1	2	1	2	4	4	1	2	2	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:13565980C>T	ENST00000360228.5	-	2	339	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	CACNA1A_ENST00000573710.2_Missense_Mutation_p.V114I	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	114					cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)	AGTGCGAGGACGATGCAATTC	0.453													T	13565980	C	T	13565980	3	4	388	1	0	0	0	0	1	0	0	0	2564	536	19	1	7478	1	CACNA1A	19	13565980	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	5374353	13565980	45563003	53	40237											
CILP2	148113	broad.mit.edu	37	chr19	19655450	19655450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagagcggcttccggcGcgaggggtcctcgggccccc	4	4	19	14	5	0	1	0	0	0	1	3	4	2	2	4	7	1	1	4	7	0	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:19655450G>A	ENST00000586018.1	+	8	2216	c.2114G>A	c.(2113-2115)cGc>cAc	p.R705H	CILP2_ENST00000291495.5_Missense_Mutation_p.R699H			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	699						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGCTTCCGGCGCGAGGGGTCC	0.706													A	19655450	G	A	19655450	3	1	388	1	0	0	0	0	1	0	0	0	3460	1087	38	1	2126	1	CILP2	19	19655450	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	6089470	19655450	39473533	54	40238											
SHKBP1	92799	broad.mit.edu	37	chr19	41096328	41096328	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggcctcggccaggcccctGgtactccctgccccacccca	5	5	9	22	2	0	0	0	0	0	0	2	0	1	0	9	4	2	1	9	4	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:41096328G>A	ENST00000291842.5	+	16	1817	c.1768G>A	c.(1768-1770)Gca>Aca	p.A590T	SHKBP1_ENST00000600733.1_Splice_Site_p.A565T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	590						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAGGCCCCTGGTACTCCCTG	0.682													A	41096328	G	A	41096328	5	1	388	1	0	0	0	0	0	0	1	0	14378	1362	47	2	1830	2	SHKBP1	19	41096328	Splice_Site	SNP	G	TCGA-DU-7012-01A-11D-2024-08	21440878	41096328	18032655	55	40239											
PSG11	5680	broad.mit.edu	37	chr19	43528993	43528993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtttctcgtccactgtatgCcggtccatatataattattt	8	18	6	9	2	1	0	0	0	1	0	4	0	3	0	3	1	1	2	3	1	5	7			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:43528993C>T	ENST00000401740.1	-	2	383	c.280G>A	c.(280-282)Gca>Aca	p.A94T	PSG11_ENST00000403486.1_Intron|PSG11_ENST00000320078.7_Missense_Mutation_p.A94T|PSG11_ENST00000306322.7_Intron			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	94	Ig-like V-type.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CCACTGTATGCCGGTCCATAT	0.443													T	43528993	C	T	43528993	3	4	388	1	0	0	0	0	1	0	0	0	12739	739	26	2	743	2	PSG11	19	43528993	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	2432665	43528993	15599990	56	40240											
SLC8A2	6543	broad.mit.edu	37	chr19	47935602	47935602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggtggggggcacacaggcGaagagcaccttccagaacac	11	4	14	12	2	0	2	0	0	0	2	2	3	1	2	2	5	2	2	2	5	2	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:47935602G>A	ENST00000236877.6	-	9	2606	c.2211C>T	c.(2209-2211)ttC>ttT	p.F737F	SLC8A2_ENST00000539381.1_Silent_p.F200F|SLC8A2_ENST00000542837.1_Silent_p.F493F	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2	737					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		GCACACAGGCGAAGAGCACCT	0.652													A	47935602	G	A	47935602	2	1	388	1	0	0	0	0	0	0	0	1	14801	1049	37	1		1	SLC8A2	19	47935602	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	4406609	47935602	11193381	57	40241											
CCDC114	93233	broad.mit.edu	37	chr19	48800756	48800756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctggcgctgcgcctccGcctgctcctggagctccacc	2	9	10	20	3	1	0	0	0	1	0	4	1	4	1	7	2	3	3	7	2	0	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:48800756G>A	ENST00000315396.7	-	14	2172	c.1490C>T	c.(1489-1491)gCg>gTg	p.A497V		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	497										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		CTGCGCCTCCGCCTGCTCCTG	0.721													A	48800756	G	A	48800756	3	1	388	1	0	0	0	0	1	0	0	0	2777	1087	38	1	526	1	CCDC114	19	48800756	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08	865154	48800756	10328227	58	40242											
KLK8	11202	broad.mit.edu	37	chr19	51499377	51499377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagatgttggtatagaCgccaggtttgtcggacctcc	7	10	14	10	3	0	2	0	0	0	2	2	3	1	3	3	4	0	4	3	4	2	4	rs56296296	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:51499377C>T	ENST00000600767.1	-	7	1210	c.721G>A	c.(721-723)Gtc>Atc	p.V241I	KLK8_ENST00000593490.1_3'UTR|KLK8_ENST00000391806.2_Missense_Mutation_p.V286I|KLK8_ENST00000347619.4_Missense_Mutation_p.V100I|KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000291726.7_Missense_Mutation_p.V241I|KLK8_ENST00000598195.1_5'UTR|CTB-147C22.9_ENST00000594512.1_RNA			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	241	Peptidase S1.				cell death|keratinocyte proliferation|memory|negative regulation of axon regeneration|negative regulation of myelination|neuron projection morphogenesis|proteolysis|regulation of synapse organization|response to wounding	cytoplasm|extracellular space	protein binding|serine-type endopeptidase activity	p.V286I(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TTGGTATAGACGCCAGGTTTG	0.542													T	51499377	C	T	51499377	3	4	388	1	0	0	0	0	1	0	0	0	8468	536	19	1	65	1	KLK8	19	51499377	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	2698621	51499377	7629606	59	40243											
LILRA6	79168	broad.mit.edu	37	chr19	54744925	54744925	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcgtagccgacatcagagCcacactggagggtcaggctc	9	7	13	12	2	2	1	2	0	0	1	4	3	2	2	2	3	2	2	2	3	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:54744925C>A	ENST00000440558.2	-	5	785	c.737G>T	c.(736-738)gGc>gTc	p.G246V	LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Missense_Mutation_p.G246V|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_3'UTR|LILRA6_ENST00000245621.5_Missense_Mutation_p.G246V|LILRA6_ENST00000396365.2_Missense_Mutation_p.G246V					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GACATCAGAGCCACACTGGAG	0.652													A	54744925	C	A	54744925	3	1	388	1	0	0	0	0	1	0	0	0	8849	739	26	4	724	4	LILRA6	19	54744925	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	3245548	54744925	4384058	60	40244											
PEG3	5178	broad.mit.edu	37	chr19	57327274	57327274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattcatttccattgtgacTtcttggaggtttggaagcca	9	15	9	8	0	2	1	1	1	1	0	3	3	3	3	2	3	1	1	2	3	2	6			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr19:57327274T>C	ENST00000326441.9	-	10	2899	c.2536A>G	c.(2536-2538)Agt>Ggt	p.S846G	ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.S846G|PEG3_ENST00000593695.1_Missense_Mutation_p.S720G|ZIM2_ENST00000601070.1_Intron|PEG3_ENST00000598410.1_Missense_Mutation_p.S722G|ZIM2_ENST00000391708.3_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	846					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S846G(2)		NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		CCATTGTGACTTCTTGGAGGT	0.433													C	57327274	T	C	57327274	3	2	388	1	0	0	0	0	1	0	0	0	11796	1609	56	3	2234	3	PEG3	19	57327274	Missense_Mutation	SNP	T	TCGA-DU-7012-01A-11D-2024-08	2582349	57327274	1801709	61	40245											
WISP2	8839	broad.mit.edu	37	chr20	43355905	43355905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctgtccaggccctGcccaccctccaggggtcgca	4	7	11	19	1	0	0	0	0	0	0	3	0	2	0	7	3	2	1	7	3	0	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:43355905G>C	ENST00000372868.2	+	5	1053	c.710G>C	c.(709-711)tGc>tCc	p.C237S	RP11-445H22.4_ENST00000427598.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000471629.1_3'UTR|WISP2_ENST00000372865.4_Missense_Mutation_p.A155P|RP11-445H22.4_ENST00000445420.1_RNA|WISP2_ENST00000190983.4_Missense_Mutation_p.C237S			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	237	TSP type-1.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				TCCAGGCCCTGCCCACCCTCC	0.677													C	43355905	G	C	43355905	3	2	388	1	0	0	0	0	1	0	0	0	17475	1319	46	4	724	4	WISP2	20	43355905	Missense_Mutation	SNP	G	TCGA-DU-7012-01A-11D-2024-08		43355905	19669615	62	40246											
KCNB1	3745	broad.mit.edu	37	chr20	47989555	47989555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgcttccatgggctcCtccccctggcaacacacgga	6	9	10	16	2	0	0	0	0	0	0	4	1	3	1	4	3	2	3	4	3	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:47989555C>T	ENST00000371741.4	-	2	2708	c.2542G>A	c.(2542-2544)Gga>Aga	p.G848R		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	848					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			CCATGGGCTCCTCCCCCTGGC	0.537													T	47989555	C	T	47989555	3	4	388	1	0	0	0	0	1	0	0	0	8070	690	24	2	38	2	KCNB1	20	47989555	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	4633650	47989555	15035965	63	40247											
COL20A1	57642	broad.mit.edu	37	chr20	61951525	61951525	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggaggctggccaaggccagGggcccccggagcagttcggc	6	3	19	13	2	0	0	0	0	0	0	1	2	0	2	4	8	1	3	4	8	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr20:61951525G>A	ENST00000422202.1	+	23	3140	c.3072G>A	c.(3070-3072)agG>agA	p.R1024R	COL20A1_ENST00000326996.6_Silent_p.R1017R|COL20A1_ENST00000435874.1_Silent_p.R1024R|COL20A1_ENST00000358894.6_Silent_p.R1017R			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1017	TSP N-terminal.				cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					CCAAGGCCAGGGGCCCCCGGA	0.736													A	61951525	G	A	61951525	2	1	388	1	0	0	0	0	0	0	0	1	3710	1223	43	2		2	COL20A1	20	61951525	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	13961970	61951525	1073995	64	40248											
ABCG1	9619	broad.mit.edu	37	chr21	43704748	43704748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggggtcgctccatcatttgCaccatccaccagcccagcgc	7	7	10	17	2	1	0	1	0	0	0	4	0	3	0	5	2	3	2	5	2	0	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr21:43704748C>T	ENST00000398437.1	+	8	1399	c.1251C>T	c.(1249-1251)tgC>tgT	p.C417C	ABCG1_ENST00000347800.2_Silent_p.C268C|ABCG1_ENST00000340588.4_Silent_p.C379C|ABCG1_ENST00000462050.1_3'UTR|ABCG1_ENST00000398457.2_Silent_p.C273C|ABCG1_ENST00000398449.3_Silent_p.C271C|ABCG1_ENST00000361802.2_Silent_p.C271C|ABCG1_ENST00000343687.3_Silent_p.C282C			P45844	ABCG1_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 1	271	ABC transmembrane type-2.				amyloid precursor protein catabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|detection of hormone stimulus|high-density lipoprotein particle remodeling|intracellular cholesterol transport|lipoprotein metabolic process|low-density lipoprotein particle remodeling|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|positive regulation of cholesterol biosynthetic process|regulation of cholesterol esterification|regulation of transcription, DNA-dependent|response to lipid|reverse cholesterol transport	endoplasmic reticulum membrane|external side of plasma membrane|Golgi membrane|recycling endosome	ADP binding|ATP binding|cholesterol transporter activity|glycoprotein transporter activity|phospholipid transporter activity|protein heterodimerization activity|protein homodimerization activity|sterol-transporting ATPase activity|toxin transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|ovary(3)|prostate(2)|stomach(1)	29					Adenosine triphosphate(DB00171)	CCATCATTTGCACCATCCACC	0.642													T	43704748	C	T	43704748	2	4	388	1	0	0	0	0	0	0	0	1	68	718	25	2		2	ABCG1	21	43704748	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		43704748	4425147	65	40249											
ZNF280B	140883	broad.mit.edu	37	chr22	22843526	22843526	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctccttgaccatgaaccCggggtgactctgttcaaaat	9	13	8	11	1	3	3	1	3	2	0	4	3	3	3	3	2	1	1	3	2	3	3			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:22843526C>T	ENST00000360412.2	-	4	973	c.198G>A	c.(196-198)ccG>ccA	p.P66P	ZNF280B_ENST00000406426.1_Silent_p.P66P	NM_080764.2	NP_542942.1	Q86YH2	Z280B_HUMAN	zinc finger protein 280B	66					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(2)	22	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		ACCATGAACCCGGGGTGACTC	0.408													T	22843526	C	T	22843526	2	4	388	1	0	0	0	0	0	0	0	1	17916	639	23	1		1	ZNF280B	22	22843526	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		22843526	28461040	66	40250											
SLC5A1	6523	broad.mit.edu	37	chr22	32487648	32487648	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggcctccctcatgagctcCctgacctccatcttcaacag	7	10	6	18	0	3	2	2	2	1	0	6	2	6	2	5	1	2	1	5	1	1	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:32487648C>T	ENST00000266088.4	+	11	1429	c.1179C>T	c.(1177-1179)tcC>tcT	p.S393S	SLC5A1_ENST00000543737.1_Silent_p.S266S	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	393					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						TCATGAGCTCCCTGACCTCCA	0.527													T	32487648	C	T	32487648	2	4	388	1	0	0	0	0	0	0	0	1	14755	610	22	2		2	SLC5A1	22	32487648	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	9644122	32487648	18816918	67	40251											
CCDC134	79879	broad.mit.edu	37	chr22	42221755	42221755	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgagagaagaagagaaacgCcgaaagaaagaggagaagcg	20	1	15	5	3	0	7	0	1	0	6	0	11	0	7	1	1	2	0	1	1	6	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chr22:42221755C>A	ENST00000255784.5	+	7	722	c.618C>A	c.(616-618)cgC>cgA	p.R206R	CCDC134_ENST00000402061.3_Silent_p.R93R	NM_024821.2	NP_079097.1	Q9H6E4	CC134_HUMAN	coiled-coil domain containing 134	206	Arg/Glu/Lys-rich (mixed charge).					extracellular region				large_intestine(1)|lung(2)|ovary(2)|skin(1)	6						AAGAGAAACGCCGAAAGAAAG	0.532													A	42221755	C	A	42221755	2	1	388	1	0	0	0	0	0	0	0	1	2794	726	26	4		4	CCDC134	22	42221755	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	9734107	42221755	9082811	68	40252											
GATA1	2623	broad.mit.edu	37	chrX	48650342	48650342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacggcaagacggggctctaCcctgcctcaactgtgtgtcc	7	9	11	14	2	2	1	1	0	1	1	3	1	3	1	3	3	4	2	3	3	4	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:48650342C>T	ENST00000376670.3	+	3	423	c.312C>T	c.(310-312)taC>taT	p.Y104Y	GATA1_ENST00000376665.3_Silent_p.Y104Y	NM_002049.3	NP_002040.1	P15976	GATA1_HUMAN	GATA binding protein 1 (globin transcription factor 1)	104					basophil differentiation|eosinophil differentiation|erythrocyte development|megakaryocyte differentiation|platelet aggregation|platelet formation|positive regulation of anti-apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|regulation of glycoprotein biosynthetic process|transcription from RNA polymerase II promoter	nuclear membrane|nucleolus|nucleoplasm	C2H2 zinc finger domain binding|RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(2)|p.V77_A120>A(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(259)|large_intestine(8)|lung(9)|prostate(1)	283						CGGGGCTCTACCCTGCCTCAA	0.597			"Mis, F"		megakaryoblastic leukemia of Downs Syndrome								T	48650342	C	T	48650342	2	4	388	1	0	0	0	0	0	0	0	1	6307	518	18	2		2	GATA1	23	48650342	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08		48650342	106620218	69	40253											
HUWE1	10075	broad.mit.edu	37	chrX	53654434	53654434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttggcttgatcacaaaCggacattcttttcggcacaa	11	13	7	10	2	3	1	1	1	2	0	4	2	3	2	0	3	1	2	0	3	2	5	rs145017919	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:53654434C>T	ENST00000342160.3	-	16	1873	c.1416G>A	c.(1414-1416)ccG>ccA	p.P472P	HUWE1_ENST00000262854.6_Silent_p.P472P|HUWE1_ENST00000218328.8_Silent_p.P472P			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	472					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGATCACAAACGGACATTCTT	0.318													T	53654434	C	T	53654434	2	4	388	1	0	0	0	0	0	0	0	1	7519	523	19	1		1	HUWE1	23	53654434	Silent	SNP	C	TCGA-DU-7012-01A-11D-2024-08	5004092	53654434	101616126	70	40254											
SLC7A3	84889	broad.mit.edu	37	chrX	70148064	70148064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctccacggagaattccctCgaagccgaaaggcacaaatc	13	6	9	13	3	0	1	0	0	0	1	4	4	2	1	3	2	2	2	3	2	4	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:70148064C>T	ENST00000374299.3	-	5	895	c.751G>A	c.(751-753)Gag>Aag	p.E251K	SLC7A3_ENST00000298085.4_Missense_Mutation_p.E251K			Q8WY07	CTR3_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 3	251					cellular nitrogen compound metabolic process	integral to membrane|plasma membrane				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|urinary_tract(1)	31	Renal(35;0.156)				L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	AGAATTCCCTCGAAGCCGAAA	0.498													T	70148064	C	T	70148064	3	4	388	1	0	0	0	0	1	0	0	0	14792	893	31	1	1140	1	SLC7A3	23	70148064	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	16493630	70148064	85122496	71	40255											
TCEAL3	85012	broad.mit.edu	37	chrX	102864217	102864217	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaggtccgaaggtgaGggcaagccacaaggcgaggg	11	2	19	9	2	0	1	0	1	0	0	1	3	1	1	2	6	1	2	2	6	3	0			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:102864217G>A	ENST00000372628.1	+	3	583	c.225G>A	c.(223-225)gaG>gaA	p.E75E	TCEAL3_ENST00000477014.1_Intron|TCEAL3_ENST00000372627.5_Silent_p.E75E|TCEAL3_ENST00000243286.3_Silent_p.E75E			Q969E4	TCAL3_HUMAN	transcription elongation factor A (SII)-like 3	75	Glu-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	16						CCGAAGGTGAGGGCAAGCCAC	0.622													A	102864217	G	A	102864217	2	1	388	1	0	0	0	0	0	0	0	1	15772	991	35	2		2	TCEAL3	23	102864217	Silent	SNP	G	TCGA-DU-7012-01A-11D-2024-08	32716153	102864217	52406343	72	40256											
PNMA3	29944	broad.mit.edu	37	chrX	152226634	152226634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctcgaggctcaagaaaaCggaaacgccacacattctgc	13	6	9	13	3	3	1	1	0	2	1	4	3	3	2	1	2	3	2	1	2	4	1	rs148950007	byFrequency	TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:152226634C>T	ENST00000447306.1	+	2	1558	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	PNMA3_ENST00000370265.4_Missense_Mutation_p.R408W|PNMA3_ENST00000370264.4_Missense_Mutation_p.R408W	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	408	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAAGAAAACGGAAACGCCA	0.577													T	152226634	C	T	152226634	3	4	388	1	0	0	0	0	1	0	0	0	12232	527	19	1	1224	1	PNMA3	23	152226634	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	49362417	152226634	3043926	73	40257											
FLNA	2316	broad.mit.edu	37	chrX	153588484	153588484	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgacggtgtaggcccCggggcagaggggaatgtagg	8	6	21	6	2	0	2	0	1	0	1	0	4	0	3	2	8	0	3	2	8	3	2			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:153588484C>T	ENST00000422373.1	-	22	3927	c.3679G>A	c.(3679-3681)Ggg>Agg	p.G1227R	FLNA_ENST00000360319.4_Missense_Mutation_p.G1227R|FLNA_ENST00000344736.4_Missense_Mutation_p.G1227R|FLNA_ENST00000369850.3_Missense_Mutation_p.G1227R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1227					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTGTAGGCCCCGGGGCAGAGG	0.637													T	153588484	C	T	153588484	3	4	388	1	0	0	0	0	1	0	0	0	5982	652	23	1	4372	1	FLNA	23	153588484	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	1361850	153588484	1682076	74	40258											
IL9R	3581	broad.mit.edu	37	chrX	155239557	155239557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacagggagccttggagcCctgcgtccaggaggccactg	7	5	14	15	1	0	0	0	0	0	0	1	3	1	3	5	4	3	0	5	4	0	1			TCGA-DU-7012-01A-11D-2024-08	TCGA-DU-7012-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe3d6872-aff9-4ae8-af7b-46472f427f79	89a62f09-5c76-4466-8c9c-1df134c441f6	g.chrX:155239557C>T	ENST00000424344.3	+	10	1353	c.986C>T	c.(985-987)cCc>cTc	p.P329L	IL9R_ENST00000244174.5_Missense_Mutation_p.P350L|IL9R_ENST00000540897.1_3'UTR|IL9R_ENST00000369423.2_3'UTR			Q01113	IL9R_HUMAN	interleukin 9 receptor	350					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GCCTTGGAGCCCTGCGTCCAG	0.672													T	155239557	C	T	155239557	3	4	388	1	0	0	0	0	1	0	0	0	7766	623	22	2	1083	2	IL9R	23	155239557	Missense_Mutation	SNP	C	TCGA-DU-7012-01A-11D-2024-08	1651073	155239557	31003	75	40259											
KCNH1	3756	broad.mit.edu	37	chr1	210856965	210856965	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccactgtcacacgagtctgtCttcttcagtgtggcctcgcc	5	12	9	15	2	5	0	2	0	3	0	6	1	5	0	3	1	0	0	3	1	0	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr1:210856965C>G	ENST00000367007.4	-	11	2716	c.2547G>C	c.(2545-2547)aaG>aaC	p.K849N	KCNH1_ENST00000271751.4_Missense_Mutation_p.K876N	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	876					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		ACGAGTCTGTCTTCTTCAGTG	0.592													G	210856965	C	G	210856965	3	3	389	1	0	0	0	0	1	0	0	0	8089	912	32	4	345	4	KCNH1	1	210856965	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08		210856965	38393656	1	40260											
MYT1L	23040	broad.mit.edu	37	chr2	1843079	1843079	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaaggggcacccggaggcGctgcgatgggacgcgtactt	7	5	17	12	5	0	0	0	0	0	0	0	3	0	2	2	5	2	3	2	5	2	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:1843079G>A	ENST00000399161.2	-	21	3669	c.2922C>T	c.(2920-2922)agC>agT	p.S974S	MYT1L_ENST00000428368.2_Silent_p.S972S|MYT1L_ENST00000471668.1_5'UTR|MYT1L_ENST00000407844.1_5'UTR	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	974					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		ACCCGGAGGCGCTGCGATGGG	0.632													A	1843079	G	A	1843079	2	1	389	1	0	0	0	0	0	0	0	1	10183	1078	38	1		1	MYT1L	2	1843079	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		1843079	241356294	2	40261											
NLRC4	58484	broad.mit.edu	37	chr2	32476671	32476671	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtctgatgaaaaagacCtattagagaagaggtgatgt	15	11	12	3	0	1	7	0	4	1	3	1	8	1	7	1	1	0	0	1	1	5	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:32476671C>T	ENST00000404025.2	-	5	751		c.e5-1		NLRC4_ENST00000402280.1_Splice_Site|NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000360906.5_Splice_Site			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4						activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGAAAAAGACCTATTAGAGAA	0.448													T	32476671	C	T	32476671	5	4	389	1	0	0	0	0	0	0	1	0	10545	695	24	2	2836	2	NLRC4	2	32476671	Splice_Site	SNP	C	TCGA-DU-7013-01A-11D-2024-08	30633592	32476671	210722702	3	40262											
EDAR	10913	broad.mit.edu	37	chr2	109527457	109527457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgatgatgaggacgatggCgatggccatgatgaagatgg	12	8	16	5	2	0	6	0	5	0	1	0	9	0	7	1	4	0	0	1	4	1	0			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:109527457C>T	ENST00000409271.1	-	8	1044	c.601G>A	c.(601-603)Gcc>Acc	p.A201T	EDAR_ENST00000258443.2_Missense_Mutation_p.A201T|EDAR_ENST00000376651.1_Missense_Mutation_p.A201T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	201					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						aggacgatggcgatggccatg	0.577													T	109527457	C	T	109527457	3	4	389	1	0	0	0	0	1	0	0	0	4944	768	27	1	769	1	EDAR	2	109527457	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	77050786	109527457	133671916	4	40263											
LCT	3938	broad.mit.edu	37	chr2	136566631	136566631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgggctttgatgacggCgtgggctatcctatatggtg	6	12	16	7	2	0	2	0	2	0	0	1	2	1	2	1	5	0	3	1	5	3	4	rs146467199	byFrequency	TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:136566631C>T	ENST00000264162.2	-	8	3296	c.3286G>A	c.(3286-3288)Gcc>Acc	p.A1096T		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1096	4 X approximate repeats.			A -> T (in Ref. 1; CAA30801).	carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		TTGATGACGGCGTGGGCTATC	0.552													T	136566631	C	T	136566631	3	4	389	1	0	0	0	0	1	0	0	0	8752	768	27	1	2537	1	LCT	2	136566631	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	27039174	136566631	106632742	5	40264											
PDE11A	50940	broad.mit.edu	37	chr2	178682596	178682596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcttacctcaaaaagtcGttgatctgcatcatcaaaag	13	14	5	9	1	5	1	3	1	2	0	6	1	5	1	1	0	2	2	1	0	5	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr2:178682596G>A	ENST00000286063.6	-	8	1950	c.1633C>T	c.(1633-1635)Cga>Tga	p.R545*	PDE11A_ENST00000389683.3_Nonsense_Mutation_p.R101*|PDE11A_ENST00000358450.4_Nonsense_Mutation_p.R295*|PDE11A_ENST00000497003.1_5'UTR|PDE11A_ENST00000409504.1_Nonsense_Mutation_p.R187*|PDE11A_ENST00000449286.2_Nonsense_Mutation_p.R187*	NM_016953.3	NP_058649.3	Q9HCR9	PDE11_HUMAN	phosphodiesterase 11A		GAF 2.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.00121)|Epithelial(96;0.00455)|all cancers(119;0.02)			TCAAAAAGTCGTTGATCTGCA	0.378									Primary Pigmented Nodular Adrenocortical Disease, Familial				A	178682596	G	A	178682596	4	1	389	1	0	0	0	0	0	1	0	0	11707	1153	40	1	1220	1	PDE11A	2	178682596	Nonsense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	42115965	178682596	64516777	6	40265											
FGD5	152273	broad.mit.edu	37	chr3	14861759	14861759	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatggtgggggctttgtGtggccagtgtggctccctac	3	11	15	12	0	0	0	0	0	0	0	1	0	1	0	4	5	1	2	4	5	1	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:14861759G>C	ENST00000285046.5	+	1	1291	c.1181G>C	c.(1180-1182)tGt>tCt	p.C394S	FGD5_ENST00000543601.1_Missense_Mutation_p.C153S	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	394					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GGGGCTTTGTGTGGCCAGTGT	0.617													C	14861759	G	C	14861759	3	2	389	1	0	0	0	0	1	0	0	0	5885	1377	48	4	1183	4	FGD5	3	14861759	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		14861759	183160671	7	40266											
DNAH1	25981	broad.mit.edu	37	chr3	52428569	52428569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtcagaccgggcttggcGagacatcctagcactctcga	8	8	12	13	3	2	2	1	0	1	2	4	4	3	2	2	2	1	3	2	2	1	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr3:52428569G>A	ENST00000420323.2	+	67	10976	c.10715G>A	c.(10714-10716)cGa>cAa	p.R3572Q		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3637					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)		CGGGCTTGGCGAGACATCCTA	0.577													A	52428569	G	A	52428569	3	1	389	1	0	0	0	0	1	0	0	0	4636	1058	37	1	10977	1	DNAH1	3	52428569	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	37566810	52428569	145593861	8	40267											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68925146	68925146	+	Frame_Shift_Del	DEL	G	G	-																															ttacacacatcagtgcttatGgtttccactctggcttgccg																										TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:68925146delG	ENST00000356291.2	-	9	1115	c.1056delC	c.(1054-1056)accfs	p.T352fs	UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	352	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						CAGTGCTTATGGTTTCCACTC	0.363													-	68925146	G	-	68925146	7	5	389	1	0	1	0	1	0	0	0	0	16343	1335	47	0	268	0	TMPRSS11F	4	68925146	Frame_Shift_Del	DEL	G	TCGA-DU-7013-01A-11D-2024-08		68925146	122229130	9	40268											
GK2	2712	broad.mit.edu	37	chr4	80327904	80327904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggttcaaatcgttccAtcctgagaactgacaaagcc	11	11	8	11	1	2	2	1	2	1	1	5	3	4	2	3	1	2	2	3	1	3	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:80327904A>G	ENST00000358842.3	-	1	1468	c.1451T>C	c.(1450-1452)aTg>aCg	p.M484T		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	484					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AAATCGTTCCATCCTGAGAAC	0.507													G	80327904	A	G	80327904	3	3	389	1	0	0	0	0	1	0	0	0	6477	217	8	3	214	3	GK2	4	80327904	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08	11402758	80327904	110826372	10	40269											
ADH1A	124	broad.mit.edu	37	chr4	100205899	100205899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagcagtagttgctctcCgggtttttacaaattctgca	9	15	8	9	1	3	0	1	0	2	0	4	0	3	0	1	1	4	6	1	1	4	7			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:100205899C>T	ENST00000209668.2	-	4	434	c.321G>A	c.(319-321)ccG>ccA	p.P107P	RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	107					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	AGTTGCTCTCCGGGTTTTTAC	0.418													T	100205899	C	T	100205899	2	4	389	1	0	0	0	0	0	0	0	1	307	639	23	1		1	ADH1A	4	100205899	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	19877995	100205899	90948377	11	40270											
NDST3	9348	broad.mit.edu	37	chr4	118975505	118975505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatatggattcctggaatcGaagccttctagataaatact	15	12	7	7	1	1	1	0	0	1	1	3	4	2	3	2	2	2	0	2	2	8	6			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:118975505G>A	ENST00000296499.5	+	2	843	c.440G>A	c.(439-441)cGa>cAa	p.R147Q	NDST3_ENST00000433996.2_Missense_Mutation_p.R147Q	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	147	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						TCCTGGAATCGAAGCCTTCTA	0.343													A	118975505	G	A	118975505	3	1	389	1	0	0	0	0	1	0	0	0	10333	1058	37	1	442	1	NDST3	4	118975505	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	18769606	118975505	72178771	12	40271											
FGA	2243	broad.mit.edu	37	chr4	155507658	155507658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccagagctcccagggtttCggtttccagtacttccaggt	6	12	10	13	1	0	1	0	0	0	1	5	1	4	1	4	3	2	4	4	3	1	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr4:155507658C>T	ENST00000302053.3	-	5	1001	c.923G>A	c.(922-924)cGa>cAa	p.R308Q	FGA_ENST00000403106.3_Missense_Mutation_p.R308Q	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	308					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding	p.R308Q(1)		NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	CCCAGGGTTTCGGTTTCCAGT	0.572													T	155507658	C	T	155507658	3	4	389	1	0	0	0	0	1	0	0	0	5879	884	31	1	1729	1	FGA	4	155507658	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	36532153	155507658	35646618	13	40272											
TPPP	11076	broad.mit.edu	37	chr5	665358	665358	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcgctccttgtgggagccCgtgaacttggtggtgtccgt	5	11	15	10	3	0	1	0	1	0	0	2	2	2	2	3	3	3	1	3	3	2	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:665358C>A	ENST00000360578.5	-	4	640	c.519G>T	c.(517-519)acG>acT	p.T173T	CEP72_ENST00000514507.1_3'UTR	NM_007030.2	NP_008961.1	O94811	TPPP_HUMAN	tubulin polymerization promoting protein	173					microtubule bundle formation|microtubule polymerization|positive regulation of protein polymerization	nucleus|perinuclear region of cytoplasm|soluble fraction	calcium ion binding|microtubule binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5		Ovarian(839;0.0563)	Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)	GBM - Glioblastoma multiforme(108;0.0191)		TGTGGGAGCCCGTGAACTTGG	0.632													A	665358	C	A	665358	2	1	389	1	0	0	0	0	0	0	0	1	16514	639	23	4		4	TPPP	5	665358	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		665358	180249902	14	40273											
NUP155	9631	broad.mit.edu	37	chr5	37364077	37364077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacacccatcatgcaattaCactgcatatctgaggtagtg	13	10	7	11	0	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	4	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:37364077C>G	ENST00000231498.3	-	3	508	c.305G>C	c.(304-306)tGt>tCt	p.C102S	NUP155_ENST00000381843.2_Missense_Mutation_p.C43S|NUP155_ENST00000513532.1_Missense_Mutation_p.C102S	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	102					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CATGCAATTACACTGCATATC	0.373													G	37364077	C	G	37364077	3	3	389	1	0	0	0	0	1	0	0	0	10832	478	17	4	4002	4	NUP155	5	37364077	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	36698719	37364077	143551183	15	40274											
AP3S1	1176	broad.mit.edu	37	chr5	115177767	115177767	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctaatcttcaacaaccaCgggaagccgcggctctccaa	12	7	7	15	3	3	0	1	0	2	0	5	1	4	1	4	2	3	1	4	2	5	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr5:115177767C>T	ENST00000316788.7	+	1	590	c.33C>T	c.(31-33)caC>caT	p.H11H		NM_001284.2	NP_001275.1	Q92572	AP3S1_HUMAN	adaptor-related protein complex 3, sigma 1 subunit	11					insulin receptor signaling pathway|intracellular protein transport|vesicle-mediated transport	AP-type membrane coat adaptor complex|cytoplasmic vesicle membrane|Golgi apparatus|transport vesicle	protein binding|protein transporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|pancreas(1)|prostate(1)	12		all_cancers(142;0.00377)|all_epithelial(76;0.000129)|Prostate(80;0.0132)|Ovarian(225;0.0776)|Lung NSC(810;0.245)		OV - Ovarian serous cystadenocarcinoma(64;1.08e-07)|Epithelial(69;1.11e-06)|all cancers(49;5.2e-05)		TCAACAACCACGGGAAGCCGC	0.706													T	115177767	C	T	115177767	2	4	389	1	0	0	0	0	0	0	0	1	751	535	19	1		1	AP3S1	5	115177767	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	77813690	115177767	65737493	16	40275											
GUCA1B	2979	broad.mit.edu	37	chr6	42162502	42162502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaccactcctggagctcCgccacatctatctcgccagc	7	10	7	17	2	2	0	0	0	2	0	5	1	4	1	5	1	3	2	5	1	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:42162502C>T	ENST00000230361.3	-	1	152	c.57G>A	c.(55-57)gcG>gcA	p.A19A		NM_002098.5	NP_002089.4	Q9UMX6	GUC1B_HUMAN	guanylate cyclase activator 1B (retina)	19	EF-hand 1.				body fluid secretion|cell-cell signaling|receptor guanylyl cyclase signaling pathway|visual perception	plasma membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			large_intestine(3)|lung(3)|skin(2)	8	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|Epithelial(12;0.00154)|STAD - Stomach adenocarcinoma(11;0.00177)			CCTGGAGCTCCGCCACATCTA	0.562													T	42162502	C	T	42162502	2	4	389	1	0	0	0	0	0	0	0	1	6944	639	23	1		1	GUCA1B	6	42162502	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		42162502	128952565	17	40276											
TAAR5	9038	broad.mit.edu	37	chr6	132910545	132910545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagctctccactgagCgaatggtgctgaggggcagc	9	6	14	12	1	1	2	0	2	1	0	2	3	1	2	2	3	5	4	2	3	1	0			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr6:132910545C>T	ENST00000258034.2	-	1	332	c.281G>A	c.(280-282)cGc>cAc	p.R94H		NM_003967.2	NP_003958.2	O14804	TAAR5_HUMAN	trace amine associated receptor 5	94					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	32	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00604)|GBM - Glioblastoma multiforme(226;0.015)		CTCCACTGAGCGAATGGTGCT	0.587													T	132910545	C	T	132910545	3	4	389	1	0	0	0	0	1	0	0	0	15588	768	27	1	736	1	TAAR5	6	132910545	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	90748043	132910545	38204522	18	40277											
LUC7L2	51631	broad.mit.edu	37	chr7	139030301	139030301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcatttccaagctgccAcctatctctgcctcctgcgt	6	13	6	16	1	2	0	1	0	1	0	5	0	4	0	5	0	5	2	5	0	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr7:139030301A>C	ENST00000541515.3	+	2	218	c.193A>C	c.(193-195)Acc>Ccc	p.T65P	C7orf55_ENST00000297534.6_Missense_Mutation_p.T65P|C7orf55-LUC7L2_ENST00000541170.3_Intron|C7orf55_ENST00000481123.1_3'UTR	NM_001244584.2	NP_001231513.1	Q9Y383	LC7L2_HUMAN	LUC7-like 2 (S. cerevisiae)	0							enzyme binding|metal ion binding			NS(2)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	16	Melanoma(164;0.242)					CCAAGCTGCCACCTATCTCTG	0.512													C	139030301	A	C	139030301	3	2	389	1	0	0	0	0	1	0	0	0	9153	159	6	5		5	LUC7L2	7	139030301	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		139030301	20108362	19	40278											
PLAG1	5324	broad.mit.edu	37	chr8	57079207	57079207	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggatgaagagggcacGccaccttgtaactccatcag	10	9	11	11	1	2	2	1	1	1	1	3	3	3	3	3	2	1	2	3	2	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr8:57079207G>A	ENST00000316981.3	-	5	1577	c.1098C>T	c.(1096-1098)ggC>ggT	p.G366G	PLAG1_ENST00000423799.2_Silent_p.G284G|PLAG1_ENST00000429357.2_Silent_p.G366G	NM_001114634.1|NM_002655.2	NP_001108106.1|NP_002646.2	Q6DJT9	PLAG1_HUMAN	pleiomorphic adenoma gene 1	366	Activates transcription; Inhibition of nuclear import due to lack of NLS and KPNA2 interaction.|Repression domain; contains 3 sumoylation motifs and massively decrease transcription activity.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.G366G(2)	CTNNB1/PLAG1(60)|LIFR_ENST00000263409/PLAG1(10)|HAS2/PLAG1(10)|FGFR1_ENST00000447712/PLAG1(28)|COL1A2/PLAG1(3)|CHCHD7/PLAG1(12)|TCEA1_ENST00000521604/PLAG1(3)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00179)|all cancers(17;0.0125)			AAGAGGGCACGCCACCTTGTA	0.458			T	"TCEA1, LIFR, CTNNB1, CHCHD7"	salivary adenoma								A	57079207	G	A	57079207	2	1	389	1	0	0	0	0	0	0	0	1	12095	1074	38	1		1	PLAG1	8	57079207	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		57079207	89284815	20	40279											
TLR4	7099	broad.mit.edu	37	chr9	120475558	120475558	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagatctcagtagaaatggCttgagtttcaaaggttgctg	11	13	11	6	0	2	3	2	1	1	2	3	3	2	3	0	2	1	5	0	2	4	5			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:120475558C>A	ENST00000355622.6	+	3	1253	c.1152C>A	c.(1150-1152)ggC>ggA	p.G384G	TLR4_ENST00000394487.4_Silent_p.G344G|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	384					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						GTAGAAATGGCTTGAGTTTCA	0.383													A	120475558	C	A	120475558	2	1	389	1	0	0	0	0	0	0	0	1	16053	784	28	4		4	TLR4	9	120475558	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		120475558	20737873	21	40280											
SETX	23064	broad.mit.edu	37	chr9	135202372	135202372	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagattccaactgaggcCgacttacagaatcttcttca	13	11	6	11	1	4	3	2	1	2	2	5	4	5	3	2	1	2	0	2	1	4	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr9:135202372C>T	ENST00000372169.2	-	10	4795	c.4613G>A	c.(4612-4614)cGg>cAg	p.R1538Q	SETX_ENST00000224140.5_Missense_Mutation_p.R1538Q|SETX_ENST00000393220.1_Missense_Mutation_p.R1538Q			Q7Z333	SETX_HUMAN	senataxin	1538					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		CAACTGAGGCCGACTTACAGA	0.368													T	135202372	C	T	135202372	3	4	389	1	0	0	0	0	1	0	0	0	14234	652	23	1	3488	1	SETX	9	135202372	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	14726814	135202372	6011059	22	40281											
CYP2C19	1557	broad.mit.edu	37	chr10	96612622	96612622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacaactcctgttgtcaatgGatttgcttctgtcccgccct	6	14	7	14	1	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr10:96612622G>A	ENST00000371321.3	+	9	1506	c.1424G>A	c.(1423-1425)gGa>gAa	p.G475E	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	475					exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GTTGTCAATGGATTTGCTTCT	0.473													A	96612622	G	A	96612622	3	1	389	1	0	0	0	0	1	0	0	0	4199	1174	41	2	1458	2	CYP2C19	10	96612622	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		96612622	38922125	23	40282											
OR9G1	390174	broad.mit.edu	37	chr11	56468437	56468437	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctggcctgtggcgagaagGgcggctataaaattatgatg	11	9	15	6	2	0	2	0	1	0	1	0	3	0	2	1	4	1	2	1	4	5	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr11:56468437G>A	ENST00000312153.1	+	1	574	c.574G>A	c.(574-576)Ggc>Agc	p.G192S		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						TGGCGAGAAGGGCGGCTATAA	0.478													A	56468437	G	A	56468437	3	1	389	1	0	0	0	0	1	0	0	0	11326	1232	43	2	576	2	OR9G1	11	56468437	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08		56468437	78538079	24	40283											
KRT6B	3854	broad.mit.edu	37	chr12	52842747	52842747	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgtgatctgcagctccTcgtactgcagcccagaggtg	6	10	12	13	1	1	2	0	1	1	1	3	2	2	2	2	1	6	5	2	1	1	1			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:52842747T>C	ENST00000252252.3	-	6	1129	c.1082A>G	c.(1081-1083)gAg>gGg	p.E361G		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	361	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		CTGCAGCTCCTCGTACTGCAG	0.537													C	52842747	T	C	52842747	3	2	389	1	0	0	0	0	1	0	0	0	8539	1551	54	3	628	3	KRT6B	12	52842747	Missense_Mutation	SNP	T	TCGA-DU-7013-01A-11D-2024-08		52842747	81009148	25	40284											
NOS1	4842	broad.mit.edu	37	chr12	117723945	117723945	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatcctgcccacacagcgCgaggcattccgccaggcgtg	7	6	13	15	4	0	0	0	0	0	0	2	2	2	1	4	3	2	1	4	3	0	1			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr12:117723945C>T	ENST00000317775.6	-	6	1939	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	NOS1_ENST00000344089.3_3'UTR|NOS1_ENST00000338101.4_Silent_p.S418S	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	418					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	CCACACAGCGCGAGGCATTCC	0.562													T	117723945	C	T	117723945	2	4	389	1	0	0	0	0	0	0	0	1	10617	755	27	1		1	NOS1	12	117723945	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	64881198	117723945	16127950	26	40285											
ZMYM2	7750	broad.mit.edu	37	chr13	20635254	20635254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagaagattcctgcagcaaTtgaggagctaaaaagcaagg	16	7	12	6	0	0	3	0	2	0	2	1	5	1	4	1	2	4	4	1	2	6	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:20635254T>C	ENST00000382869.3	+	17	3052	c.2801T>C	c.(2800-2802)aTt>aCt	p.I934T	ZMYM2_ENST00000382871.2_Missense_Mutation_p.I934T|ZMYM2_ENST00000382874.2_Missense_Mutation_p.I934T	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	934					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		CCTGCAGCAATTGAGGAGCTA	0.418													C	20635254	T	C	20635254	3	2	389	1	0	0	0	0	1	0	0	0	17801	1493	52	3	2859	3	ZMYM2	13	20635254	Missense_Mutation	SNP	T	TCGA-DU-7013-01A-11D-2024-08		20635254	94534624	27	40286											
MTMR6	9107	broad.mit.edu	37	chr13	25840284	25840284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttgtagtcccggttggCatcagacaactgccagtgtg	8	11	11	11	1	1	1	1	0	0	1	2	1	2	1	3	2	3	3	3	2	3	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr13:25840284C>T	ENST00000381801.5	-	4	1206	c.445G>A	c.(445-447)Gcc>Acc	p.A149T	MTMR6_ENST00000540661.1_Missense_Mutation_p.A149T	NM_004685.3	NP_004676.3	Q9Y217	MTMR6_HUMAN	myotubularin related protein 6	149	Myotubularin phosphatase.					cytoplasm|nuclear envelope	calcium-activated potassium channel activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(5)|stomach(3)	36		Lung SC(185;0.0225)|Breast(139;0.0351)		all cancers(112;0.00927)|Epithelial(112;0.0474)|OV - Ovarian serous cystadenocarcinoma(117;0.164)		TCCCGGTTGGCATCAGACAAC	0.453													T	25840284	C	T	25840284	3	4	389	1	0	0	0	0	1	0	0	0	10023	710	25	2	1464	2	MTMR6	13	25840284	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	5205030	25840284	89329594	28	40287											
MYH6	4624	broad.mit.edu	37	chr14	23855275	23855275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggttgttgcgccgctccacGatggcgatgttctccttcag	5	12	12	12	4	2	0	1	0	1	0	4	2	3	0	3	2	1	4	3	2	0	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:23855275G>A	ENST00000405093.3	-	34	5095	c.5025C>T	c.(5023-5025)atC>atT	p.I1675I	MYH6_ENST00000356287.3_Silent_p.I1675I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1675					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GCCGCTCCACGATGGCGATGT	0.637													A	23855275	G	A	23855275	2	1	389	1	0	0	0	0	0	0	0	1	10114	1048	37	1		1	MYH6	14	23855275	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08		23855275	83494265	29	40288											
MDGA2	161357	broad.mit.edu	37	chr14	47426601	47426601	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagaaagctgcatctccCagctccagcttcatttatga	13	10	6	12	0	2	2	1	1	1	1	4	2	3	2	2	0	5	4	2	0	4	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:47426601C>T	ENST00000426342.1	-	9	1917	c.1171G>A	c.(1171-1173)Ggg>Agg	p.G391R	MDGA2_ENST00000439988.3_Missense_Mutation_p.G689R|MDGA2_ENST00000399232.2_Missense_Mutation_p.G620R|MDGA2_ENST00000357362.3_Missense_Mutation_p.G391R	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	620	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						CTGCATCTCCCAGCTCCAGCT	0.358													T	47426601	C	T	47426601	3	4	389	1	0	0	0	0	1	0	0	0	9482	594	21	2	1048	2	MDGA2	14	47426601	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	23571326	47426601	59922939	30	40289											
SPTB	6710	broad.mit.edu	37	chr14	65258514	65258514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaccaagctgttggcagcGaggttcacaccatcaatctg	10	10	9	12	1	4	0	2	0	2	0	4	1	4	0	2	2	3	4	2	2	3	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr14:65258514G>A	ENST00000389722.3	-	14	2780	c.2727C>T	c.(2725-2727)ctC>ctT	p.L909L	SPTB_ENST00000389721.5_Silent_p.L909L|SPTB_ENST00000389720.3_Silent_p.L909L|SPTB_ENST00000556626.1_Silent_p.L909L|SPTB_ENST00000542895.1_Silent_p.L909L	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	909					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTTGGCAGCGAGGTTCACAC	0.557													A	65258514	G	A	65258514	2	1	389	1	0	0	0	0	0	0	0	1	15214	1045	37	1		1	SPTB	14	65258514	Silent	SNP	G	TCGA-DU-7013-01A-11D-2024-08	17831913	65258514	42091026	31	40290											
MSLNL	401827	broad.mit.edu	37	chr16	823215	823215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttggttctgaggatgcAgccatccaggcaggactcaa	10	8	13	10	0	2	1	1	1	1	0	3	3	3	3	2	5	2	4	2	5	1	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:823215A>G	ENST00000293892.3	-	10	2052	c.2053T>C	c.(2053-2055)Tgc>Cgc	p.C685R	MSLNL_ENST00000442466.1_Missense_Mutation_p.C334R			Q96KJ4	MSLNL_HUMAN	mesothelin-like	334					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CTGAGGATGCAGCCATCCAGG	0.632													G	823215	A	G	823215	3	3	389	1	0	0	0	0	1	0	0	0	9958	188	7	3	1136	3	MSLNL	16	823215	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		823215	89531538	32	40291											
CASKIN1	57524	broad.mit.edu	37	chr16	2230409	2230409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctgccggccaggtcaCtggcccgccggcactgtgcc	4	5	13	19	4	1	0	1	0	0	0	1	0	1	0	6	4	2	2	6	4	0	0			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2230409C>T	ENST00000343516.6	-	18	3052	c.2960G>A	c.(2959-2961)aGt>aAt	p.S987N		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	987	Pro-rich.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GGCCAGGTCACTGGCCCGCCG	0.716													T	2230409	C	T	2230409	3	4	389	1	0	0	0	0	1	0	0	0	2692	565	20	2	1347	2	CASKIN1	16	2230409	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	1407194	2230409	88124344	33	40292											
CCNF	899	broad.mit.edu	37	chr16	2499351	2499351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggagctgagaacccagcaCctgtgcagcttcctctgcga	8	8	12	13	1	1	1	0	1	1	1	2	4	2	2	3	1	6	4	3	1	1	1	rs151164394		TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr16:2499351C>A	ENST00000397066.4	+	12	1375	c.1287C>A	c.(1285-1287)caC>caA	p.H429Q		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	429					cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GAACCCAGCACCTGTGCAGCT	0.662													A	2499351	C	A	2499351	3	1	389	1	0	0	0	0	1	0	0	0	2952	506	18	4	1333	4	CCNF	16	2499351	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	268942	2499351	87855402	34	40293											
AIPL1	23746	broad.mit.edu	37	chr17	6329143	6329143	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcacgcacgtagtaggccttCacgatgcctgtggggagcag	8	7	15	11	3	1	0	1	0	0	0	1	2	1	1	2	3	2	5	2	3	2	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:6329143C>T	ENST00000381129.3	-	6	872	c.792G>A	c.(790-792)gtG>gtA	p.V264V	AIPL1_ENST00000574506.1_Silent_p.V252V|AIPL1_ENST00000576776.1_Silent_p.V240V|AIPL1_ENST00000570466.1_Silent_p.V242V|AIPL1_ENST00000575265.1_3'UTR|AIPL1_ENST00000250087.5_Silent_p.V201V|AIPL1_ENST00000576307.1_Silent_p.V204V	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1	264					protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		AGTAGGCCTTCACGATGCCTG	0.657													T	6329143	C	T	6329143	2	4	389	1	0	0	0	0	0	0	0	1	436	813	29	2		2	AIPL1	17	6329143	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		6329143	74866067	35	40294											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537		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)			T	7578203	C	T	7578203	3	4	389	1	0	0	0	0	1	0	0	0	16482	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-DU-7013-01A-11D-2024-08	1249060	7578203	73617007	36	40295											
SLC16A3	9123	broad.mit.edu	37	chr17	80195561	80195561	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttctccatgttcttcaaCggcctcgcggacctggcggg	5	10	12	14	4	3	0	1	0	2	0	5	1	3	1	3	4	2	2	3	4	1	3			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr17:80195561C>T	ENST00000581287.1	+	3	3237	c.915C>T	c.(913-915)aaC>aaT	p.N305N	SLC16A3_ENST00000392339.1_Silent_p.N305N|SLC16A3_ENST00000392341.1_Silent_p.N305N|SLC16A3_ENST00000582743.1_Silent_p.N305N	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	305					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGTTCTTCAACGGCCTCGCGG	0.652													T	80195561	C	T	80195561	2	4	389	1	0	0	0	0	0	0	0	1	14503	535	19	1		1	SLC16A3	17	80195561	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08	72617358	80195561	999649	37	40296											
POLR2E	5434	broad.mit.edu	37	chr19	1090943	1090943	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgatgagcagctcctgctgCagaaactgctccaggatgta	10	10	11	10	0	0	3	0	2	0	1	2	4	2	4	2	1	6	6	2	1	2	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:1090943C>T	ENST00000215587.7	-	4	676	c.393G>A	c.(391-393)ctG>ctA	p.L131L	POLR2E_ENST00000586746.1_Silent_p.L131L|POLR2E_ENST00000585838.1_5'UTR			P19388	RPAB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide E, 25kDa	131					interspecies interaction between organisms|mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase II promoter|transcription elongation from RNA polymerase III promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|skin(2)	11		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCTCCTGCTGCAGAAACTGCT	0.667													T	1090943	C	T	1090943	2	4	389	1	0	0	0	0	0	0	0	1	12295	697	25	2		2	POLR2E	19	1090943	Silent	SNP	C	TCGA-DU-7013-01A-11D-2024-08		1090943	58038040	38	40297											
NLRP9	338321	broad.mit.edu	37	chr19	56244772	56244772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtgtgtcgtctagccGcagcagtatatgcgtcattc	8	11	10	12	3	2	0	1	0	1	0	4	0	2	0	2	0	3	3	2	0	3	4			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr19:56244772G>A	ENST00000332836.2	-	2	452	c.425C>T	c.(424-426)gCg>gTg	p.A142V		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	142						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		TCGTCTAGCCGCAGCAGTATA	0.433													A	56244772	G	A	56244772	3	1	389	1	0	0	0	0	1	0	0	0	10560	1087	38	1	2582	1	NLRP9	19	56244772	Missense_Mutation	SNP	G	TCGA-DU-7013-01A-11D-2024-08	55153829	56244772	2884211	39	40298											
R3HDML	140902	broad.mit.edu	37	chr20	42979326	42979326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggattggcgagtccccgtAcaagatgggaaagccgtgct	9	8	14	10	3	0	1	0	0	0	1	1	4	1	3	3	3	3	2	3	3	3	2			TCGA-DU-7013-01A-11D-2024-08	TCGA-DU-7013-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0eb92a8-7607-4cfb-b2a5-a65aa707a4b7	e7a1b446-ae3d-4f8f-a976-fdaa7902e760	g.chr20:42979326A>G	ENST00000217043.2	+	5	828	c.656A>G	c.(655-657)tAc>tGc	p.Y219C	RP5-881L22.5_ENST00000438702.1_RNA	NM_178491.2	NP_848586.1	Q9H3Y0	CRSPL_HUMAN	R3H domain containing-like	219						extracellular region	peptidase inhibitor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)	21		Myeloproliferative disorder(115;0.028)	COAD - Colon adenocarcinoma(18;0.00189)			GAGTCCCCGTACAAGATGGGA	0.532													G	42979326	A	G	42979326	3	3	389	1	0	0	0	0	1	0	0	0	12977	391	14	3	674	3	R3HDML	20	42979326	Missense_Mutation	SNP	A	TCGA-DU-7013-01A-11D-2024-08		42979326	20046194	40	40299											
HMCN1	83872	broad.mit.edu	37	chr1	186105910	186105910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccaaccattacatggtccCgtcaagggcactctatttcc	11	10	6	14	1	2	0	1	0	1	0	4	0	4	0	4	2	3	1	4	2	5	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:186105910C>T	ENST00000271588.4	+	87	13652	c.13423C>T	c.(13423-13425)Cgt>Tgt	p.R4475C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4475C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4475	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACATGGTCCCGTCAAGGGCA	0.428													T	186105910	C	T	186105910	3	4	390	1	0	0	0	0	1	0	0	0	7275	652	23	1	13769	1	HMCN1	1	186105910	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08		186105910	63144711	1	40300											
ACBD3	64746	broad.mit.edu	37	chr1	226349374	226349374	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcttcacgccgccttcGctcctcttcctccttcctac	2	15	3	21	3	3	0	1	0	2	0	9	0	8	0	7	0	1	1	7	0	1	6			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr1:226349374G>A	ENST00000366812.5	-	4	640	c.586C>T	c.(586-588)Cga>Tga	p.R196*		NM_022735.3	NP_073572.2	Q9H3P7	GCP60_HUMAN	acyl-CoA binding domain containing 3	196	Arg-rich.|Glu-rich.				steroid biosynthetic process|transport	Golgi membrane|integral to membrane|mitochondrion	fatty-acyl-CoA binding|protein binding			breast(2)|endometrium(3)|large_intestine(5)|lung(7)|skin(1)|urinary_tract(2)	20	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.121)		cgccgccttcgctcctcttcc	0.458													A	226349374	G	A	226349374	4	1	390	1	0	0	0	0	0	1	0	0	123	1095	38	1	1020	1	ACBD3	1	226349374	Nonsense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	40243464	226349374	22901247	2	40301											
ZAP70	7535	broad.mit.edu	37	chr2	98354504	98354504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcgagcagggcaagcGgatggagtgcccaccagagt	10	6	14	11	2	1	1	1	0	0	1	2	4	1	3	2	3	3	2	2	3	1	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:98354504G>A	ENST00000264972.5	+	13	1885	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	ZAP70_ENST00000442208.1_Missense_Mutation_p.R431Q|ZAP70_ENST00000451498.2_Missense_Mutation_p.R250Q|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	557	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						CAGGGCAAGCGGATGGAGTGC	0.607													A	98354504	G	A	98354504	3	1	390	1	0	0	0	0	1	0	0	0	17616	1116	39	1	1712	1	ZAP70	2	98354504	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		98354504	144844869	3	40302											
ACVR1C	130399	broad.mit.edu	37	chr2	158443697	158443697	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacaaagataaaccccttAcctgttggaaggtgcagtgt	13	10	10	8	0	0	2	0	1	0	1	0	3	0	3	3	2	4	2	3	2	6	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:158443697A>G	ENST00000243349.8	-	2	665		c.e2+1		ACVR1C_ENST00000335450.7_Splice_Site|ACVR1C_ENST00000409680.3_Splice_Site|ACVR1C_ENST00000348328.5_Splice_Site	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC						apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						TAAACCCCTTACCTGTTGGAA	0.348													G	158443697	A	G	158443697	5	3	390	1	0	0	0	0	0	0	1	0	222	405	14	3	1207	3	ACVR1C	2	158443697	Splice_Site	SNP	A	TCGA-DU-7015-01A-11D-2024-08	60089193	158443697	84755676	4	40303											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	390	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08	50669415	209113112	34086261	5	40304											
DBR1	51163	broad.mit.edu	37	chr3	137882319	137882319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcaggagcactggggtcAtgttctatctctaatatcta	11	14	8	8	0	5	0	2	0	3	0	6	1	5	1	0	3	1	2	0	3	5	6			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:137882319A>C	ENST00000260803.4	-	7	966	c.813T>G	c.(811-813)caT>caG	p.H271Q	DBR1_ENST00000505015.2_Missense_Mutation_p.H37Q	NM_016216.3	NP_057300.2	Q9UK59	DBR1_HUMAN	debranching RNA lariats 1	271						nucleus	metal ion binding|RNA lariat debranching enzyme activity			NS(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	15						CACTGGGGTCATGTTCTATCT	0.323													C	137882319	A	C	137882319	3	2	390	1	0	0	0	0	1	0	0	0	4291	214	8	5	829	5	DBR1	3	137882319	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		137882319	60140111	6	40305											
B3GNT5	84002	broad.mit.edu	37	chr3	182987919	182987919	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccggaattagaaggacgtgGggcaatgaaaattatgttcg	13	10	13	5	3	0	2	0	1	0	1	2	4	1	4	1	4	0	2	1	4	7	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr3:182987919G>A	ENST00000326505.3	+	2	863	c.333G>A	c.(331-333)tgG>tgA	p.W111*	MCF2L2_ENST00000447025.2_Intron|B3GNT5_ENST00000460419.1_Nonsense_Mutation_p.W111*|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Nonsense_Mutation_p.W111*	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	111					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GAAGGACGTGGGGCAATGAAA	0.428													A	182987919	G	A	182987919	4	1	390	1	0	0	0	0	0	1	0	0	1265	1241	43	2	335	2	B3GNT5	3	182987919	Nonsense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	45105600	182987919	15034511	7	40306											
PRKAA1	5562	broad.mit.edu	37	chr5	40765101	40765101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaatcaggtgggcttgtcGccaaatagaaatctttggct	12	11	11	7	1	2	2	1	0	1	2	3	2	2	2	1	3	0	2	1	3	5	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:40765101G>A	ENST00000397128.2	-	7	1069	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	PRKAA1_ENST00000354209.3_Missense_Mutation_p.A369V	NM_006251.5|NM_206907.3	NP_006242.5|NP_996790.3	Q13131	AAPK1_HUMAN	protein kinase, AMP-activated, alpha 1 catalytic subunit	354					activation of MAPK activity|cell cycle arrest|cholesterol biosynthetic process|fatty acid biosynthetic process|insulin receptor signaling pathway|negative regulation of glucosylceramide biosynthetic process|positive regulation of anti-apoptosis|positive regulation of cholesterol biosynthetic process|regulation of fatty acid oxidation|response to hypoxia	cytosol	ATP binding|cAMP-dependent protein kinase activity|metal ion binding|protein binding			breast(1)	1					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Phenformin(DB00914)	TGGGCTTGTCGCCAAATAGAA	0.438													A	40765101	G	A	40765101	3	1	390	1	0	0	0	0	1	0	0	0	12579	1087	38	1	630	1	PRKAA1	5	40765101	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		40765101	140150159	8	40307											
GRIA1	2890	broad.mit.edu	37	chr5	153026583	153026583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgtggggccctccacGtctgcttcattacgccgagc	4	12	10	15	3	2	0	1	0	1	0	3	1	3	0	4	2	3	1	4	2	1	4	rs138238382		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr5:153026583G>A	ENST00000285900.5	+	3	659	c.316G>A	c.(316-318)Gtc>Atc	p.V106I	GRIA1_ENST00000448073.4_Missense_Mutation_p.V116I|GRIA1_ENST00000340592.5_Missense_Mutation_p.V106I|GRIA1_ENST00000518783.1_Missense_Mutation_p.V116I|GRIA1_ENST00000518862.1_3'UTR|GRIA1_ENST00000521843.2_Missense_Mutation_p.V37I|GRIA1_ENST00000518142.1_Intron	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	106					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GGCCCTCCACGTCTGCTTCAT	0.502													A	153026583	G	A	153026583	3	1	390	1	0	0	0	0	1	0	0	0	6822	1145	40	1	326	1	GRIA1	5	153026583	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	112261482	153026583	27888677	9	40308											
COL12A1	1303	broad.mit.edu	37	chr6	75834890	75834890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagtccagaatcatatTgagcataaacattcacatcg	15	10	6	10	1	2	3	2	2	0	1	4	3	3	3	1	0	2	1	1	0	4	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr6:75834890T>C	ENST00000322507.8	-	40	6869	c.6560A>G	c.(6559-6561)cAa>cGa	p.Q2187R	COL12A1_ENST00000416123.2_Missense_Mutation_p.Q2187R|COL12A1_ENST00000345356.6_Missense_Mutation_p.Q1023R|COL12A1_ENST00000483888.2_Missense_Mutation_p.Q2187R	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2187	Fibronectin type-III 17.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAATCATATTGAGCATAAAC	0.413													C	75834890	T	C	75834890	3	2	390	1	0	0	0	0	1	0	0	0	3700	1812	63	3	2739	3	COL12A1	6	75834890	Missense_Mutation	SNP	T	TCGA-DU-7015-01A-11D-2024-08		75834890	95280177	10	40309											
SYBU	55638	broad.mit.edu	37	chr8	110655043	110655043	+	Missense_Mutation	SNP	G	G	A																															tgctctcttcctcagagaaaGgagactcagaggctggggac																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655043G>A	ENST00000399066.3	-	1	861	c.134C>T	c.(133-135)cCt>cTt	p.P45L	SYBU_ENST00000528647.1_Missense_Mutation_p.P47L|SYBU_ENST00000419099.1_Missense_Mutation_p.P47L|SYBU_ENST00000446070.2_Missense_Mutation_p.P47L|SYBU_ENST00000533171.1_Missense_Mutation_p.P48L|SYBU_ENST00000433638.1_Missense_Mutation_p.P48L|SYBU_ENST00000276646.9_Missense_Mutation_p.P48L|SYBU_ENST00000408908.2_Missense_Mutation_p.P48L|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000533895.1_Missense_Mutation_p.P47L|SYBU_ENST00000424158.2_Missense_Mutation_p.P53L|SYBU_ENST00000422135.1_Missense_Mutation_p.P48L|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000440310.1_Missense_Mutation_p.P48L|SYBU_ENST00000408889.3_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	48	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						CTCAGAGAAAGGAGACTCAGA	0.552													A	110655043	G	A	110655043	3	1	390	1	0	0	0	0	1	0	0	0	15523	1000	35	2	1872	2	SYBU	8	110655043	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		110655043	35708979	11	40310	131	2									
SYBU	55638	broad.mit.edu	37	chr8	110655044	110655044	+	Missense_Mutation	SNP	G	G	A																															gctctcttcctcagagaaagGagactcagaggctggggaca																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:110655044G>A	ENST00000399066.3	-	1	860	c.133C>T	c.(133-135)Cct>Tct	p.P45S	SYBU_ENST00000528647.1_Missense_Mutation_p.P47S|SYBU_ENST00000419099.1_Missense_Mutation_p.P47S|SYBU_ENST00000446070.2_Missense_Mutation_p.P47S|SYBU_ENST00000533171.1_Missense_Mutation_p.P48S|SYBU_ENST00000433638.1_Missense_Mutation_p.P48S|SYBU_ENST00000276646.9_Missense_Mutation_p.P48S|SYBU_ENST00000408908.2_Missense_Mutation_p.P48S|SYBU_ENST00000528331.1_Intron|SYBU_ENST00000533895.1_Missense_Mutation_p.P47S|SYBU_ENST00000424158.2_Missense_Mutation_p.P53S|SYBU_ENST00000422135.1_Missense_Mutation_p.P48S|SYBU_ENST00000533065.1_Intron|SYBU_ENST00000532779.1_Intron|SYBU_ENST00000440310.1_Missense_Mutation_p.P48S|SYBU_ENST00000408889.3_Intron	NM_001099756.1	NP_001093226.1	Q9NX95	SYBU_HUMAN	syntabulin (syntaxin-interacting)	48	Ser-rich.|Sufficient for interaction with KIF5B.					cytoplasmic membrane-bounded vesicle|cytoskeleton|Golgi membrane|integral to membrane				NS(1)|breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	30						TCAGAGAAAGGAGACTCAGAG	0.552													A	110655044	G	A	110655044	3	1	390	1	0	0	0	0	1	0	0	0	15523	1174	41	2	1873	2	SYBU	8	110655044	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	1	110655044	35708978	12	40311	131	2									
CSMD3	114788	broad.mit.edu	37	chr8	113277704	113277704	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtcctgattctggagccAttcaattccatcgtgtagcc	9	12	8	12	1	2	1	1	1	1	0	5	2	4	2	4	1	2	1	4	1	3	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:113277704A>G	ENST00000297405.5	-	60	9868	c.9624T>C	c.(9622-9624)aaT>aaC	p.N3208N	CSMD3_ENST00000455883.2_Silent_p.N3039N|CSMD3_ENST00000343508.3_Silent_p.N3168N|CSMD3_ENST00000352409.3_Silent_p.N3138N	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3208	Sushi 24.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTCTGGAGCCATTCAATTCCA	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113277704	A	G	113277704	2	3	390	1	0	0	0	0	0	0	0	1	3979	214	8	3		3	CSMD3	8	113277704	Silent	SNP	A	TCGA-DU-7015-01A-11D-2024-08	2622660	113277704	33086318	13	40312											
TG	7038	broad.mit.edu	37	chr8	133961128	133961128	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctacatgtcctggtgtgAcatatgaccaggagagccac	11	9	11	10	0	0	3	0	2	0	1	1	4	1	3	3	2	3	1	3	2	2	2			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr8:133961128A>T	ENST00000220616.4	+	27	5381	c.5341A>T	c.(5341-5343)Aca>Tca	p.T1781S	TG_ENST00000542445.1_Missense_Mutation_p.T151S|TG_ENST00000377869.1_Missense_Mutation_p.T1724S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1781					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TCCTGGTGTGACATATGACCA	0.468													T	133961128	A	T	133961128	3	4	390	1	0	0	0	0	1	0	0	0	15913	275	10	5	5447	5	TG	8	133961128	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	20683424	133961128	12402894	14	40313											
MASTL	84930	broad.mit.edu	37	chr10	27459597	27459597	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatttctatgaactctgAttcatcttttcctggaattt	11	19	4	7	0	4	2	1	2	3	0	5	3	5	3	1	1	1	0	1	1	5	7			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:27459597A>G	ENST00000375946.4	+	8	2312	c.1709A>G	c.(1708-1710)gAt>gGt	p.D570G	MASTL_ENST00000342386.6_Missense_Mutation_p.D570G|MASTL_ENST00000477034.1_3'UTR|MASTL_ENST00000375940.4_Missense_Mutation_p.D570G	NM_001172303.1|NM_032844.3	NP_001165774.1|NP_116233.2	Q96GX5	GWL_HUMAN	microtubule associated serine/threonine kinase-like	570	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|mitosis|negative regulation of protein phosphatase type 2A activity|regulation of cell cycle|response to DNA damage stimulus	centrosome|cleavage furrow|nucleus	ATP binding|protein phosphatase 2A binding|protein serine/threonine kinase activity			breast(3)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ATGAACTCTGATTCATCTTTT	0.323													G	27459597	A	G	27459597	3	3	390	1	0	0	0	0	1	0	0	0	9403	333	12	3	1739	3	MASTL	10	27459597	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		27459597	108075150	15	40314											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396277	+	RNA	DEL	G	G	-																															ttgactaacagacaaattatGgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													-	118396277	G	-	118396277	6	5	390	0	1	1	0	1	0	0	0	0	12228	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-DU-7015-01A-11D-2024-08	90936680	118396277	17138470	16	40315											
PHRF1	57661	broad.mit.edu	37	chr11	608555	608555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggagctcgaggtcagcGtcaccatcagtgggtgagga	10	6	16	9	2	3	1	3	1	0	0	4	5	3	3	1	4	2	1	1	4	0	0			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:608555G>A	ENST00000264555.5	+	14	3227	c.3099G>A	c.(3097-3099)gcG>gcA	p.A1033A	PHRF1_ENST00000416188.2_Silent_p.A1032A|PHRF1_ENST00000533464.1_Silent_p.A1029A|PHRF1_ENST00000413872.2_Silent_p.A1031A	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	1033	Arg-rich.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CGAGGTCAGCGTCACCATCAG	0.662													A	608555	G	A	608555	2	1	390	1	0	0	0	0	0	0	0	1	11938	1132	40	1		1	PHRF1	11	608555	Silent	SNP	G	TCGA-DU-7015-01A-11D-2024-08		608555	134397961	17	40316											
OR52D1	390066	broad.mit.edu	37	chr11	5510502	5510502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgagcatatgggcattgcccGactggcctgtgccaacatca	9	9	11	12	1	1	1	1	1	0	0	1	2	1	1	3	2	4	2	3	2	2	2	rs74379370	by1000genomes	TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:5510502G>C	ENST00000322641.5	+	1	588	c.566G>C	c.(565-567)cGa>cCa	p.R189P	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005163.2	NP_001005163.1	Q9H346	O52D1_HUMAN	olfactory receptor, family 52, subfamily D, member 1	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.46e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCATTGCCCGACTGGCCTGT	0.522													C	5510502	G	C	5510502	3	2	390	1	0	0	0	0	1	0	0	0	11190	1058	37	4	568	4	OR52D1	11	5510502	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	4901947	5510502	129496014	18	40317											
SLC17A6	57084	broad.mit.edu	37	chr11	22363146	22363146	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagcccctagaggtgccCgagaggaaggcgccgctgtg	8	4	18	11	3	0	2	0	0	0	2	0	5	0	4	4	4	2	1	4	4	3	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:22363146C>T	ENST00000263160.3	+	2	596	c.159C>T	c.(157-159)ccC>ccT	p.P53P		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	53					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TAGAGGTGCCCGAGAGGAAGG	0.642													T	22363146	C	T	22363146	2	4	390	1	0	0	0	0	0	0	0	1	14515	639	23	1		1	SLC17A6	11	22363146	Silent	SNP	C	TCGA-DU-7015-01A-11D-2024-08	16852644	22363146	112643370	19	40318											
CHST1	8534	broad.mit.edu	37	chr11	45671624	45671624	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgcatgaggccggtggAcacggagttggagaagtcct	8	6	18	9	3	0	2	0	1	0	1	1	5	1	4	3	6	0	2	3	6	1	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:45671624A>G	ENST00000308064.2	-	4	1520	c.850T>C	c.(850-852)Tcc>Ccc	p.S284P		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	284					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		AGGCCGGTGGACACGGAGTTG	0.622													G	45671624	A	G	45671624	3	3	390	1	0	0	0	0	1	0	0	0	3427	275	10	3	389	3	CHST1	11	45671624	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	23308478	45671624	89334892	20	40319											
OR5B21	219968	broad.mit.edu	37	chr11	58275443	58275443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggagtctgagtggatgaTcaccatcattcccccattcc	9	11	9	12	0	3	2	2	2	1	0	5	4	5	4	4	2	0	0	4	2	0	2			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr11:58275443T>C	ENST00000360374.2	-	1	135	c.136A>G	c.(136-138)Atc>Gtc	p.I46V		NM_001005218.1	NP_001005218.1	A6NL26	OR5BL_HUMAN	olfactory receptor, family 5, subfamily B, member 21	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(16)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGTGGATGATCACCATCATT	0.478													C	58275443	T	C	58275443	3	2	390	1	0	0	0	0	1	0	0	0	11227	1435	50	3	795	3	OR5B21	11	58275443	Missense_Mutation	SNP	T	TCGA-DU-7015-01A-11D-2024-08	12603819	58275443	76731073	21	40320											
GNPTAB	79158	broad.mit.edu	37	chr12	102142925	102142925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaacataatcaatgttgctAgtacacaatgggtccaaaac	17	10	6	8	0	1	0	1	0	0	0	2	0	2	0	1	1	4	3	1	1	9	5			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr12:102142925A>G	ENST00000299314.7	-	20	3909	c.3647T>C	c.(3646-3648)cTa>cCa	p.L1216P		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	1216					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						CAATGTTGCTAGTACACAATG	0.338													G	102142925	A	G	102142925	3	3	390	1	0	0	0	0	1	0	0	0	6601	420	15	3	131	3	GNPTAB	12	102142925	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		102142925	31708970	22	40321											
NKX2-1	7080	broad.mit.edu	37	chr14	36987039	36987039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgctcgcgctccggcgccGacaggtacttctgttgcttg	3	11	14	13	5	1	0	0	0	1	0	3	1	2	0	2	3	3	5	2	3	1	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr14:36987039G>A	ENST00000518149.1	-	3	1165	c.560C>T	c.(559-561)tCg>tTg	p.S187L	RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000522719.2_Missense_Mutation_p.S187L|NKX2-1_ENST00000498187.2_Missense_Mutation_p.S187L|NKX2-1_ENST00000354822.5_Missense_Mutation_p.S217L			P43699	NKX21_HUMAN	NK2 homeobox 1	187					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)		CTCCGGCGCCGACAGGTACTT	0.657			A		NSCLC								A	36987039	G	A	36987039	3	1	390	1	0	0	0	0	1	0	0	0	10525	1059	37	1	559	1	NKX2-1	14	36987039	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		36987039	70362501	23	40322											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:7578265A>G	ENST00000420246.2	-	6	716	c.584T>C	c.(583-585)aTc>aCc	p.I195T	TP53_ENST00000269305.4_Missense_Mutation_p.I195T|TP53_ENST00000445888.2_Missense_Mutation_p.I195T|TP53_ENST00000413465.2_Missense_Mutation_p.I195T|TP53_ENST00000455263.2_Missense_Mutation_p.I195T|TP53_ENST00000359597.4_Missense_Mutation_p.I195T|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			G	7578265	A	G	7578265	3	3	390	1	0	0	0	0	1	0	0	0	16482	333	12	3	710	3	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08		7578265	73616945	24	40323											
MYH4	4622	broad.mit.edu	37	chr17	10351193	10351193	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcagcagcctggcggttgGcatggttcagctggatttcc	5	11	13	12	1	2	0	2	0	0	0	3	1	3	1	3	5	3	5	3	5	0	3			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:10351193G>T	ENST00000255381.2	-	34	5017	c.4907C>A	c.(4906-4908)gCc>gAc	p.A1636D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1636					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTGGCGGTTGGCATGGTTCAG	0.453													T	10351193	G	T	10351193	3	4	390	1	0	0	0	0	1	0	0	0	10113	1203	42	4	940	4	MYH4	17	10351193	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08	2772928	10351193	70844017	25	40324											
ALDH3A1	218	broad.mit.edu	37	chr17	19641635	19641635	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcgccttccccctctcaCcttggccgggctcggggggt	3	8	13	17	3	1	0	1	0	1	0	4	0	2	0	5	5	1	1	5	5	0	2			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr17:19641635C>T	ENST00000457500.2	-	9	1677		c.e9+1		ALDH3A1_ENST00000444455.1_Splice_Site|ALDH3A1_ENST00000225740.6_Splice_Site|ALDH3A1_ENST00000395555.3_Splice_Site|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000494157.2_Splice_Site	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1						cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CCCCCTCTCACCTTGGCCGGG	0.632													T	19641635	C	T	19641635	5	4	390	1	0	0	0	0	0	0	1	0	497	521	18	2	21	2	ALDH3A1	17	19641635	Splice_Site	SNP	C	TCGA-DU-7015-01A-11D-2024-08	9290442	19641635	61553575	26	40325											
C3	718	broad.mit.edu	37	chr19	6707865	6707865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgaaggtcagccctgcgtCggagaagacaccggcgtaat	10	6	14	11	5	1	3	1	1	0	2	2	4	1	3	2	3	2	1	2	3	3	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:6707865C>T	ENST00000245907.6	-	15	2013	c.1921G>A	c.(1921-1923)Gac>Aac	p.D641N		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	641					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		AGCCCTGCGTCGGAGAAGACA	0.682													T	6707865	C	T	6707865	3	4	390	1	0	0	0	0	1	0	0	0	2225	884	31	1	3178	1	C3	19	6707865	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08		6707865	52421118	27	40326											
PDCD2L	84306	broad.mit.edu	37	chr19	34900075	34900075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttttccagaaacagggaAacagccttgcagctgaggac	13	9	10	9	0	0	2	0	1	0	1	1	4	1	4	2	2	5	2	2	2	3	4			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr19:34900075A>G	ENST00000246535.3	+	4	393	c.346A>G	c.(346-348)Aac>Gac	p.N116D	PDCD2L_ENST00000587065.2_Intron|RP11-618P17.4_ENST00000606020.1_Missense_Mutation_p.N111D	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	116						cytoplasm				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GAAACAGGGAAACAGCCTTGC	0.522													G	34900075	A	G	34900075	3	3	390	1	0	0	0	0	1	0	0	0	11696	14	1	3	360	3	PDCD2L	19	34900075	Missense_Mutation	SNP	A	TCGA-DU-7015-01A-11D-2024-08	28192210	34900075	24228908	28	40327											
ADNP	23394	broad.mit.edu	37	chr20	49508437	49508437	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttcctcagtcaaatgaatAgtttcgtattttgaaccatc	11	15	7	8	1	2	2	2	2	0	0	5	2	3	2	2	1	1	3	2	1	5	6			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr20:49508437A>G	ENST00000396029.3	-	5	3381	c.2814T>C	c.(2812-2814)acT>acC	p.T938T	ADNP_ENST00000371602.4_Silent_p.T938T|ADNP_ENST00000396032.3_Silent_p.T938T|ADNP_ENST00000349014.3_Silent_p.T938T	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	938						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCAAATGAATAGTTTCGTATT	0.423													G	49508437	A	G	49508437	2	3	390	1	0	0	0	0	0	0	0	1	323	407	15	3		3	ADNP	20	49508437	Silent	SNP	A	TCGA-DU-7015-01A-11D-2024-08		49508437	13517083	29	40328											
TXNRD2	10587	broad.mit.edu	37	chr22	19929320	19929321	+	Frame_Shift_Del	DEL	CC	CC	-																															ccgcagcgccaccgccattgCcgccatcgtcgtggggcttc																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chr22:19929320_19929321delCC	ENST00000535882.1	-	1	5_6	c.6_7delGG	c.(4-9)gcggcafs	p.AA2fs	COMT_ENST00000403184.1_5'UTR|COMT_ENST00000407537.1_5'UTR|TXNRD2_ENST00000334363.9_Frame_Shift_Del_p.AA2fs|TXNRD2_ENST00000400521.1_Frame_Shift_Del_p.AA2fs|COMT_ENST00000361682.6_5'UTR|TXNRD2_ENST00000400519.1_Frame_Shift_Del_p.AA2fs|COMT_ENST00000403710.1_5'UTR			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	2					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					ACCGCCATTGCCGCCATCGTCG	0.797													-	19929321	CC	-	19929320	7	5	390	1	0	1	0	1	0	0	0	0	16910	739	26	0	1635	0	TXNRD2	22	19929320	Frame_Shift_Del	DEL	CC	TCGA-DU-7015-01A-11D-2024-08		19929320	31375246	30	40329											
WWC3	55841	broad.mit.edu	37	chrX	10085416	10085416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcgggcttccacaagcaGaggcggtccctggacacgcc	7	5	12	17	3	0	1	0	0	0	1	3	2	2	2	4	4	1	2	4	4	1	1			TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:10085416G>T	ENST00000380861.4	+	11	1708	c.1317G>T	c.(1315-1317)caG>caT	p.Q439H	WWC3_ENST00000454666.1_Missense_Mutation_p.Q439H	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	439	Ser-rich.									NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCCACAAGCAGAGGCGGTCCC	0.672													T	10085416	G	T	10085416	3	4	390	1	0	0	0	0	1	0	0	0	17515	933	33	4	1355	4	WWC3	23	10085416	Missense_Mutation	SNP	G	TCGA-DU-7015-01A-11D-2024-08		10085416	145185144	31	40330											
EDA	1896	broad.mit.edu	37	chrX	68836453	68836453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcctcgaccctgacagcCccatcaccagtcaccttggg	7	7	10	17	1	2	1	2	1	0	0	3	2	2	1	6	2	1	0	6	2	0	1	rs41539891		TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:68836453C>T	ENST00000374552.4	+	1	543	c.301C>T	c.(301-303)Ccc>Tcc	p.P101S	EDA_ENST00000524573.1_Missense_Mutation_p.P101S|EDA_ENST00000527388.1_Missense_Mutation_p.P101S|EDA_ENST00000374553.2_Missense_Mutation_p.P101S|EDA_ENST00000525810.1_Missense_Mutation_p.P101S|EDA_ENST00000338901.3_Missense_Mutation_p.P101S|EDA_ENST00000502251.1_3'UTR	NM_001399.4	NP_001390.1	Q92838	EDA_HUMAN	ectodysplasin A	101					cell differentiation|ectoderm development|immune response|positive regulation of NF-kappaB transcription factor activity|signal transduction	collagen|cytoskeleton|membrane fraction	tumor necrosis factor receptor binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|urinary_tract(1)	14						CCCTGACAGCCCCATCACCAG	0.677													T	68836453	C	T	68836453	3	4	390	1	0	0	0	0	1	0	0	0	4942	623	22	2	303	2	EDA	23	68836453	Missense_Mutation	SNP	C	TCGA-DU-7015-01A-11D-2024-08	58751037	68836453	86434107	32	40331											
ATRX	546	broad.mit.edu	37	chrX	76939957	76939957	+	Frame_Shift_Del	DEL	T	T	-																															ctgggtgacaaatgtagcaaTaccattggttgttttcatcc																										TCGA-DU-7015-01A-11D-2024-08	TCGA-DU-7015-10B-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a50aaa7-8539-4a6a-83a3-92dc92614388	9eb0f222-3de6-4ad6-b286-4c12998c1536	g.chrX:76939957delT	ENST00000373344.5	-	9	1005	c.791delA	c.(790-792)tatfs	p.Y264fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.Y226fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	264	ADD.				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)	AATGTAGCAATACCATTGGTT	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939957	T	-	76939957	7	5	390	1	0	1	0	1	0	0	0	0	1213	1406	49	0	6795	0	ATRX	23	76939957	Frame_Shift_Del	DEL	T	TCGA-DU-7015-01A-11D-2024-08	8103504	76939957	78330603	33	40332											
GPBP1L1	60313	broad.mit.edu	37	chr1	46120875	46120875	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctcacctcctgcagttcgTaggggaccattgttaaaaaa	11	10	10	10	1	1	0	1	0	0	0	3	1	2	1	3	3	1	5	3	3	4	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:46120875T>C	ENST00000355105.3	-	5	1537	c.177A>G	c.(175-177)ctA>ctG	p.L59L	GPBP1L1_ENST00000290795.3_Silent_p.L59L	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	59					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					CTGCAGTTCGTAGGGGACCAT	0.453													C	46120875	T	C	46120875	2	2	391	1	0	0	0	0	0	0	0	1	6650	1625	57	3		3	GPBP1L1	1	46120875	Silent	SNP	T	TCGA-DU-7018-01A-11D-2024-08		46120875	203129746	1	40333											
SOAT1	6646	broad.mit.edu	37	chr1	179320474	179320474	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcaacttcattgtcaaTgatagtcggaaaaagccgat	13	12	8	8	2	3	1	3	1	0	0	4	3	3	2	1	1	2	1	1	1	5	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr1:179320474T>C	ENST00000367619.3	+	15	1616	c.1473T>C	c.(1471-1473)aaT>aaC	p.N491N	SOAT1_ENST00000535686.1_Silent_p.N227N|SOAT1_ENST00000540564.1_Silent_p.N433N|SOAT1_ENST00000539888.1_Silent_p.N426N	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	491					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TCATTGTCAATGATAGTCGGA	0.408													C	179320474	T	C	179320474	2	2	391	1	0	0	0	0	0	0	0	1	15004	1461	51	3		3	SOAT1	1	179320474	Silent	SNP	T	TCGA-DU-7018-01A-11D-2024-08	133199599	179320474	69930147	2	40334											
KRTCAP3	200634	broad.mit.edu	37	chr2	27666916	27666916	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcatcacagagaagttGggtttaggacaggtaatggg	11	8	16	6	1	1	1	1	0	0	1	1	3	1	2	1	5	0	4	1	5	3	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:27666916G>A	ENST00000543753.1	+	6	763	c.716G>A	c.(715-717)tGg>tAg	p.W239*	KRTCAP3_ENST00000288873.3_Nonsense_Mutation_p.W239*|KRTCAP3_ENST00000407293.1_Nonsense_Mutation_p.W221*	NM_001168364.1	NP_001161836.1	Q53RY4	KCP3_HUMAN	keratinocyte associated protein 3	239						integral to membrane				large_intestine(1)|lung(2)	3	Acute lymphoblastic leukemia(172;0.155)					CAGAGAAGTTGGGTTTAGGAC	0.483													A	27666916	G	A	27666916	4	1	391	1	0	0	0	0	0	1	0	0	8638	1357	47	2	738	2	KRTCAP3	2	27666916	Nonsense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		27666916	215532457	3	40335											
SMYD1	150572	broad.mit.edu	37	chr2	88393054	88393054	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcatgaggcagtgaaatcCatgtttcatacccagatgag	13	10	10	8	0	2	4	2	3	0	1	3	4	3	4	2	1	1	2	2	1	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:88393054C>G	ENST00000419482.2	+	5	763	c.678C>G	c.(676-678)tcC>tcG	p.S226S	SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000444564.2_Intron	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	226	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						CAGTGAAATCCATGTTTCATA	0.493													G	88393054	C	G	88393054	2	3	391	1	0	0	0	0	0	0	0	1	14915	581	21	4		4	SMYD1	2	88393054	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	60726138	88393054	154806319	4	40336											
ITPRIPL1	150771	broad.mit.edu	37	chr2	96993753	96993753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttgctacggctgcccCtcacggactgggcccacaac	7	7	9	18	2	2	0	1	0	1	0	2	1	2	1	4	3	4	2	4	3	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:96993753C>T	ENST00000361124.4	+	1	1819	c.1408C>T	c.(1408-1410)Ctc>Ttc	p.L470F	ITPRIPL1_ENST00000542887.1_Missense_Mutation_p.L454F|ITPRIPL1_ENST00000439118.2_Missense_Mutation_p.L462F|ITPRIPL1_ENST00000536814.1_Missense_Mutation_p.L454F	NM_178495.5	NP_848590.3	Q6GPH6	IPIL1_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein-like 1	462						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ACGGCTGCCCCTCACGGACTG	0.567													T	96993753	C	T	96993753	3	4	391	1	0	0	0	0	1	0	0	0	7982	681	24	2	1424	2	ITPRIPL1	2	96993753	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	8600699	96993753	146205620	5	40337											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	391	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	112119359	209113112	34086261	6	40338											
SMARCAL1	50485	broad.mit.edu	37	chr2	217279430	217279430	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatttctctgtgaaaatGtccttgcctcttacagagga	11	13	8	9	0	2	2	0	1	2	1	4	3	3	3	2	1	3	1	2	1	4	3			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:217279430G>A	ENST00000357276.4	+	3	333	c.3G>A	c.(1-3)atG>atA	p.M1I	SMARCAL1_ENST00000358207.5_Start_Codon_SNP_p.M1I	NM_014140.3	NP_054859.2	Q9NZC9	SMAL1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a-like 1	1					chromatin modification|DNA metabolic process|regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(15)|ovary(3)|prostate(1)|skin(1)	42		Renal(323;0.0458)		Epithelial(149;9.48e-06)|all cancers(144;0.000621)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0111)		CTGTGAAAATGTCCTTGCCTC	0.413									Schimke Immuno-Osseous Dysplasia				A	217279430	G	A	217279430	1	1	391	1	0	0	0	0	0	0	0	0	14867	1377	48	2		2	SMARCAL1	2	217279430	Translation_Start_Site	SNP	G	TCGA-DU-7018-01A-11D-2024-08	8166318	217279430	25919943	7	40339											
RUFY4	285180	broad.mit.edu	37	chr2	218954072	218954072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttggccgattttctcggCggtatccatgcaggtaaagg	7	13	12	9	3	2	0	0	0	2	0	4	1	3	0	2	5	1	3	2	5	3	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr2:218954072C>T	ENST00000374155.3	+	11	2070	c.1660C>T	c.(1660-1662)Cgg>Tgg	p.R554W	RUFY4_ENST00000344321.7_Missense_Mutation_p.R534W|RUFY4_ENST00000441828.2_3'UTR			Q6ZNE9	RUFY4_HUMAN	RUN and FYVE domain containing 4	534							metal ion binding			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(1)	10		Renal(207;0.0915)		Epithelial(149;4.11e-06)|all cancers(144;0.000519)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATTTTCTCGGCGGTATCCATG	0.602													T	218954072	C	T	218954072	3	4	391	1	0	0	0	0	1	0	0	0	13832	759	27	1	1638	1	RUFY4	2	218954072	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	1674642	218954072	24245301	8	40340											
PIK3CA	5290	broad.mit.edu	37	chr3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctacacgagatcctctctctGaaatcactgagcaggagaaa	14	8	8	11	1	3	4	1	2	2	2	5	6	4	4	1	1	2	1	1	1	3	1	rs121913273		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PI3K helical.		E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation).|E -> Q (in cancer).|E -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178936082	G	A	178936082	3	1	391	1	0	0	0	0	1	0	0	0	11990	1291	45	2	1658	2	PIK3CA	3	178936082	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		178936082	19086348	9	40341											
DAB2	1601	broad.mit.edu	37	chr5	39381673	39381673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcctgaaggttctgagaCgggaggagcaaagatgtctg	10	8	16	7	1	2	3	0	2	2	2	2	6	2	5	1	4	1	2	1	4	2	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:39381673C>T	ENST00000320816.6	-	11	1854	c.1387G>A	c.(1387-1389)Gtc>Atc	p.V463I	DAB2_ENST00000339788.6_Missense_Mutation_p.V245I|DAB2_ENST00000509337.1_Missense_Mutation_p.V442I|DAB2_ENST00000545653.1_Missense_Mutation_p.V442I	NM_001343.3	NP_001334.2	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	463					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GGTTCTGAGACGGGAGGAGCA	0.542													T	39381673	C	T	39381673	3	4	391	1	0	0	0	0	1	0	0	0	4252	536	19	1	941	1	DAB2	5	39381673	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		39381673	141533587	10	40342											
RNF180	285671	broad.mit.edu	37	chr5	63509839	63509840	+	Frame_Shift_Del	DEL	AT	AT	-																															agcttttcatagaaaatcacAtagtttggatctgaacatca																								rs146938584	byFrequency	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:63509839_63509840delAT	ENST00000389100.4	+	4	758_759	c.686_687delAT	c.(685-687)catfs	p.H229fs	RNF180_ENST00000381081.2_Intron|RNF180_ENST00000296615.6_Frame_Shift_Del_p.H229fs	NM_001113561.1	NP_001107033.1	Q86T96	RN180_HUMAN	ring finger protein 180	229						integral to membrane|nuclear envelope	zinc ion binding			breast(1)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	20		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0848)|Colorectal(97;0.234)		Lung(70;0.114)		AGAAAATCACATAGTTTGGATC	0.386													-	63509840	AT	-	63509839	7	5	391	1	0	1	0	1	0	0	0	0	13555	217	8	0	696	0	RNF180	5	63509839	Frame_Shift_Del	DEL	AT	TCGA-DU-7018-01A-11D-2024-08	24128166	63509839	117405421	11	40343											
SNCAIP	9627	broad.mit.edu	37	chr5	121786734	121786734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccttggcatcagggggacGcaggtttcctttcagcatca	8	10	11	12	1	3	0	3	0	0	0	4	1	4	1	2	4	1	4	2	4	0	3	rs146515227	by1000genomes	TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:121786734G>A	ENST00000261367.7	+	12	3761	c.2333G>A	c.(2332-2334)cGc>cAc	p.R778H	CTC-210G5.1_ENST00000505546.1_RNA|CTC-210G5.1_ENST00000506053.1_RNA|SNCAIP_ENST00000379533.2_Missense_Mutation_p.R778H|SNCAIP_ENST00000504884.2_3'UTR|CTC-210G5.1_ENST00000510972.1_RNA|SNCAIP_ENST00000542191.1_Missense_Mutation_p.R289H|CTC-210G5.1_ENST00000509993.1_RNA|SNCAIP_ENST00000503116.2_3'UTR|SNCAIP_ENST00000379538.3_Missense_Mutation_p.R365H|SNCAIP_ENST00000414317.2_Missense_Mutation_p.R333H|SNCAIP_ENST00000379536.2_Missense_Mutation_p.R671H|SNCAIP_ENST00000261368.8_Missense_Mutation_p.R731H|CTC-210G5.1_ENST00000503529.1_RNA			Q9Y6H5	SNCAP_HUMAN	synuclein, alpha interacting protein	731					cell death|dopamine metabolic process|regulation of inclusion body assembly|regulation of neurotransmitter secretion	cytoplasm|neuronal cell body|nucleolus|presynaptic membrane	ubiquitin protein ligase binding			NS(3)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	39		all_cancers(142;0.00787)|Prostate(80;0.0327)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	OV - Ovarian serous cystadenocarcinoma(64;0.000625)|Epithelial(69;0.00216)|all cancers(49;0.0232)		TCAGGGGGACGCAGGTTTCCT	0.542													A	121786734	G	A	121786734	3	1	391	1	0	0	0	0	1	0	0	0	14935	1087	38	1	2226	1	SNCAIP	5	121786734	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	58276895	121786734	59128526	12	40344											
IL9	3578	broad.mit.edu	37	chr5	135231431	135231431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttgatgtccaggatcccCgccaaggttggacacccctg	9	8	11	13	1	0	1	0	1	0	0	2	3	2	3	6	3	0	2	6	3	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:135231431C>T	ENST00000274520.1	-	1	85	c.75G>A	c.(73-75)gcG>gcA	p.A25A		NM_000590.1	NP_000581.1	P15248	IL9_HUMAN	interleukin 9	25					immune response|inflammatory response|positive regulation of cell proliferation|positive regulation of interleukin-5 biosynthetic process	extracellular space	cytokine activity|cytokine receptor binding|growth factor activity			large_intestine(3)|lung(2)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CCAGGATCCCCGCCAAGGTTG	0.567													T	135231431	C	T	135231431	2	4	391	1	0	0	0	0	0	0	0	1	7765	639	23	1		1	IL9	5	135231431	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	13444697	135231431	45683829	13	40345											
PCDHGA11	56105	broad.mit.edu	37	chr5	140801469	140801469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatcccatccgaaagggCgcagttcccattcgtgtggt	7	9	13	12	4	0	0	0	0	0	0	4	2	3	0	3	3	0	2	3	3	1	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:140801469C>T	ENST00000398587.2	+	1	708	c.675C>T	c.(673-675)ggC>ggT	p.G225G	PCDHGB7_ENST00000398594.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Silent_p.G225G|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.G225G(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCCGAAAGGGCGCAGTTCCCA	0.527													T	140801469	C	T	140801469	2	4	391	1	0	0	0	0	0	0	0	1	11628	755	27	1		1	PCDHGA11	5	140801469	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	5570038	140801469	40113791	14	40346											
RBM22	55696	broad.mit.edu	37	chr5	150073655	150073655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccttccccatttcacattCagtctgcggccatttacaat	9	13	4	15	1	3	0	2	0	1	0	4	0	4	0	4	1	2	0	4	1	2	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:150073655C>T	ENST00000199814.4	-	8	1015	c.894G>A	c.(892-894)ctG>ctA	p.L298L	RBM22_ENST00000540000.1_Silent_p.L249L|RBM22_ENST00000447771.2_Silent_p.L249L	NM_018047.2	NP_060517.1	Q9NW64	RBM22_HUMAN	RNA binding motif protein 22	298	RRM.				protein import into nucleus, translocation	catalytic step 2 spliceosome|cytoplasm	calcium-dependent protein binding|nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|ovary(1)	17		Medulloblastoma(196;0.167)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATTTCACATTCAGTCTGCGGC	0.398													T	150073655	C	T	150073655	2	4	391	1	0	0	0	0	0	0	0	1	13210	813	29	2		2	RBM22	5	150073655	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	9272186	150073655	30841605	15	40347											
CPEB4	80315	broad.mit.edu	37	chr5	173317440	173317440	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacagcaccacccacAtcaccctcatttccagcatc	10	9	2	20	0	4	0	3	0	1	0	7	0	5	0	4	0	2	2	4	0	0	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:173317440A>T	ENST00000265085.5	+	1	2158	c.704A>T	c.(703-705)cAt>cTt	p.H235L	CPEB4_ENST00000519835.1_Missense_Mutation_p.H235L|CPEB4_ENST00000334035.5_Missense_Mutation_p.H235L|CPEB4_ENST00000520867.1_Missense_Mutation_p.H235L	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	235	His-rich.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CACCACCCACATCACCCTCAT	0.537													T	173317440	A	T	173317440	3	4	391	1	0	0	0	0	1	0	0	0	3834	217	8	5	706	5	CPEB4	5	173317440	Missense_Mutation	SNP	A	TCGA-DU-7018-01A-11D-2024-08	23243785	173317440	7597820	16	40348											
RNF130	55819	broad.mit.edu	37	chr5	179393937	179393937	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtcgccgagggctgatCttcggttaacagcttgggtt	6	11	15	9	4	1	1	0	1	1	0	3	3	1	1	1	4	2	4	1	4	1	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr5:179393937C>A	ENST00000522208.2	-	7	1037	c.1019G>T	c.(1018-1020)aGa>aTa	p.R340I	RNF130_ENST00000261947.4_Missense_Mutation_p.R340I|RNF130_ENST00000521389.1_Missense_Mutation_p.R340I			Q86XS8	GOLI_HUMAN	ring finger protein 130	340					apoptosis	cytoplasm|integral to membrane|nucleus	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAGGGCTGATCTTCGGTTAAC	0.517													A	179393937	C	A	179393937	3	1	391	1	0	0	0	0	1	0	0	0	13529	913	32	4	252	4	RNF130	5	179393937	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	6076497	179393937	1521323	17	40349											
NKAPL	222698	broad.mit.edu	37	chr6	28228259	28228259	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagaagagagctcttgcAtcctttaaccaagaagagag	15	8	11	7	0	1	4	0	1	1	4	2	8	2	4	2	0	3	2	2	0	4	3			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr6:28228259A>G	ENST00000343684.3	+	1	1162	c.1110A>G	c.(1108-1110)gcA>gcG	p.A370A		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	370										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAGCTCTTGCATCCTTTAACC	0.443													G	28228259	A	G	28228259	2	3	391	1	0	0	0	0	0	0	0	1	10516	204	8	3		3	NKAPL	6	28228259	Silent	SNP	A	TCGA-DU-7018-01A-11D-2024-08		28228259	142886808	18	40350											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517991	113517991	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttcctcaacaggaagactAgtagaagcagagctgtcaga	14	8	10	9	0	2	4	2	0	0	4	3	5	3	5	1	1	3	3	1	1	5	3			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr7:113517991A>G	ENST00000284601.3	-	4	3224	c.3156T>C	c.(3154-3156)acT>acC	p.T1052T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1052					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGAAGACTAGTAGAAGCAG	0.368													G	113517991	A	G	113517991	2	3	391	1	0	0	0	0	0	0	0	1	12453	407	15	3		3	PPP1R3A	7	113517991	Silent	SNP	A	TCGA-DU-7018-01A-11D-2024-08		113517991	45620672	19	40351											
MYOM2	9172	broad.mit.edu	37	chr8	2021511	2021511	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgcacaaggacgacgagGgcctgtacaccctgcgcatc	10	5	11	15	3	0	0	0	0	0	0	1	3	0	1	3	2	3	3	3	2	2	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:2021511G>T	ENST00000262113.4	+	10	1192	c.1051G>T	c.(1051-1053)Ggc>Tgc	p.G351C	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	351	Ig-like C2-type 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGACGACGAGGGCCTGTACAC	0.602													T	2021511	G	T	2021511	3	4	391	1	0	0	0	0	1	0	0	0	10168	1232	43	4	1085	4	MYOM2	8	2021511	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		2021511	144342511	20	40352											
MRPL15	29088	broad.mit.edu	37	chr8	55049886	55049889	+	Frame_Shift_Del	DEL	GGTC	GGTC	-																															tgcagtatcttattgatttgGgtcgtgttgatcctagtcaa																								rs144260791		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:55049886_55049889delGGTC	ENST00000260102.4	+	3	396_399	c.322_325delGGTC	c.(322-327)ggtcgtfs	p.GR108fs		NM_014175.3	NP_054894.1	Q9P015	RM15_HUMAN	mitochondrial ribosomal protein L15	108					translation	large ribosomal subunit|mitochondrion	structural constituent of ribosome			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)|skin(3)	10		Lung NSC(129;0.109)|all_epithelial(80;0.134)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;4.3e-07)|Epithelial(17;5.79e-05)|all cancers(17;0.000458)			TATTGATTTGGGTCGTGTTGATCC	0.426													-	55049889	GGTC	-	55049886	7	5	391	1	0	1	0	1	0	0	0	0	9856	1232	43	0	332	0	MRPL15	8	55049886	Frame_Shift_Del	DEL	GGTC	TCGA-DU-7018-01A-11D-2024-08	53028375	55049886	91314136	21	40353											
PRDM14	63978	broad.mit.edu	37	chr8	70978498	70978498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccagatggctgcttcccCggctctgtgacctgaaggct	5	9	13	14	1	1	3	0	2	1	1	2	3	2	3	4	4	1	4	4	4	1	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:70978498C>T	ENST00000276594.2	-	5	1356	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	385					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			GCTGCTTCCCCGGCTCTGTGA	0.537													T	70978498	C	T	70978498	2	4	391	1	0	0	0	0	0	0	0	1	12541	639	23	1		1	PRDM14	8	70978498	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08	15928612	70978498	75385524	22	40354											
VPS13B	157680	broad.mit.edu	37	chr8	100589785	100589785	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggacttcttcctaagtgTggctcaagttcaactcttac	8	14	7	12	0	4	0	2	0	2	0	5	1	5	1	2	2	2	2	2	2	4	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr8:100589785T>C	ENST00000358544.2	+	33	5330	c.5219T>C	c.(5218-5220)gTg>gCg	p.V1740A	VPS13B_ENST00000357162.2_Missense_Mutation_p.V1715A|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1740			Missing (in COH1).		protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCCTAAGTGTGGCTCAAGTT	0.388													C	100589785	T	C	100589785	3	2	391	1	0	0	0	0	1	0	0	0	17292	1696	59	3	5539	3	VPS13B	8	100589785	Missense_Mutation	SNP	T	TCGA-DU-7018-01A-11D-2024-08	29611287	100589785	45774237	23	40355											
NOTCH1	4851	broad.mit.edu	37	chr9	139392000	139392000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgggcggccagaaacaggGgtgtctcctcctgggggatg	6	6	17	12	2	1	1	0	0	1	1	3	2	2	2	4	6	1	0	4	6	1	0			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr9:139392000G>A	ENST00000277541.6	-	34	6266	c.6191C>T	c.(6190-6192)cCc>cTc	p.P2064L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2064					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CAGAAACAGGGGTGTCTCCTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139392000	G	A	139392000	3	1	391	1	0	0	0	0	1	0	0	0	10623	1232	43	2	1480	2	NOTCH1	9	139392000	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		139392000	1821431	24	40356											
TACR2	6865	broad.mit.edu	37	chr10	71164757	71164757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcgtggagagggaggtcGtgggagtcagctcgagctta	7	9	17	8	3	2	1	1	0	1	1	5	5	2	3	0	4	2	2	0	4	1	1	rs149794645		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:71164757G>A	ENST00000373306.4	-	5	1565	c.1022C>T	c.(1021-1023)aCg>aTg	p.T341M	TACR2_ENST00000373307.1_Missense_Mutation_p.T129M	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	341					excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11					Clonidine(DB00575)|Octreotide(DB00104)	GAGGGAGGTCGTGGGAGTCAG	0.627													A	71164757	G	A	71164757	3	1	391	1	0	0	0	0	1	0	0	0	15603	1145	40	1	178	1	TACR2	10	71164757	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		71164757	64369990	25	40357											
CLRN3	119467	broad.mit.edu	37	chr10	129690850	129690850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttggttctgcaagtcCgtgactcaattcttcactac	7	17	6	11	1	5	1	2	1	3	0	6	1	6	1	1	1	2	2	1	1	3	6			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr10:129690850C>T	ENST00000368671.3	-	1	361	c.199G>A	c.(199-201)Gga>Aga	p.G67R		NM_152311.3	NP_689524.1	Q8NCR9	CLRN3_HUMAN	clarin 3	67						integral to membrane				endometrium(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6		all_epithelial(44;0.00168)|all_lung(145;0.0586)|Lung NSC(174;0.0765)|all_neural(114;0.201)|Glioma(114;0.222)|Colorectal(57;0.235)				TCTGCAAGTCCGTGACTCAAT	0.368													T	129690850	C	T	129690850	3	4	391	1	0	0	0	0	1	0	0	0	3590	661	23	1	493	1	CLRN3	10	129690850	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	58526093	129690850	5843897	26	40358											
PSMC3	5702	broad.mit.edu	37	chr11	47444498	47444498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaaacttctccttgtggttCattggcaagacaatggcctc	9	13	8	11	0	3	1	2	0	1	1	5	1	3	1	2	3	1	2	2	3	3	4			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:47444498C>T	ENST00000298852.3	-	7	775	c.618G>A	c.(616-618)atG>atA	p.M206I	PSMC3_ENST00000602866.1_Missense_Mutation_p.M190I|PSMC3_ENST00000530912.1_Missense_Mutation_p.M164I	NM_002804.4	NP_002795.2	P17980	PRS6A_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 3	206					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|nucleoside-triphosphatase activity|protein binding|transcription coactivator activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(4)|urinary_tract(1)	17				Lung(87;0.0932)|BRCA - Breast invasive adenocarcinoma(625;0.13)		CCTTGTGGTTCATTGGCAAGA	0.592													T	47444498	C	T	47444498	3	4	391	1	0	0	0	0	1	0	0	0	12772	826	29	2	725	2	PSMC3	11	47444498	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		47444498	87562018	27	40359											
PCNXL3	399909	broad.mit.edu	37	chr11	65393163	65393163	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgatgtgtgtggtgaTcgccgtgctcaccttcgcca	4	12	13	12	3	1	2	1	2	0	0	3	2	1	2	4	2	1	1	4	2	0	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:65393163T>G	ENST00000355703.3	+	19	3715	c.3176T>G	c.(3175-3177)aTc>aGc	p.I1059S		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1059						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGTGTGGTGATCGCCGTGCTC	0.627											OREG0021084	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	65393163	T	G	65393163	3	3	391	1	0	0	0	0	1	0	0	0	11669	1435	50	5	3250	5	PCNXL3	11	65393163	Missense_Mutation	SNP	T	TCGA-DU-7018-01A-11D-2024-08	17948665	65393163	69613353	28	40360											
GPR83	10888	broad.mit.edu	37	chr11	94113592	94113592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgctcatggcaaacCagtggaaggcaaagtagagg	13	6	15	7	0	1	1	1	0	0	1	1	2	1	2	1	5	3	5	1	5	4	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr11:94113592C>A	ENST00000243673.2	-	4	1166	c.995G>T	c.(994-996)tGg>tTg	p.W332L	GPR83_ENST00000539203.2_Missense_Mutation_p.W290L	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	332						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CATGGCAAACCAGTGGAAGGC	0.517													A	94113592	C	A	94113592	3	1	391	1	0	0	0	0	1	0	0	0	6767	595	21	4	280	4	GPR83	11	94113592	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	28720429	94113592	40892924	29	40361											
KRT71	112802	broad.mit.edu	37	chr12	52946764	52946764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagccctttgctccctgccCggaaggaggatgagctgccc	6	8	13	14	1	0	2	0	2	0	0	1	5	1	5	4	3	5	2	4	3	1	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:52946764C>T	ENST00000267119.5	-	1	167	c.98G>A	c.(97-99)cGg>cAg	p.R33Q		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	33	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GCTCCCTGCCCGGAAGGAGGA	0.652													T	52946764	C	T	52946764	3	4	391	1	0	0	0	0	1	0	0	0	8542	652	23	1	1509	1	KRT71	12	52946764	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		52946764	80905131	30	40362											
FGD6	55785	broad.mit.edu	37	chr12	95604123	95604123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttctgggcttgggagttgGaaattttggggtatatggta	7	16	15	3	0	1	0	0	0	1	0	1	2	1	2	0	6	0	4	0	6	4	8			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr12:95604123G>A	ENST00000343958.4	-	2	1160	c.937C>T	c.(937-939)Cca>Tca	p.P313S	FGD6_ENST00000549499.1_Missense_Mutation_p.P313S|FGD6_ENST00000546711.1_Missense_Mutation_p.P313S	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	313					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGAGTTGGAAATTTTGGG	0.413													A	95604123	G	A	95604123	3	1	391	1	0	0	0	0	1	0	0	0	5886	1174	41	2	3435	2	FGD6	12	95604123	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	42657359	95604123	38247772	31	40363											
POTEG	404785	broad.mit.edu	37	chr14	19553818	19553818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatggagccgaggtaccaCgtccgtcgagaagatctgga	10	8	13	10	4	2	2	1	0	1	2	4	6	3	4	3	3	2	1	3	3	2	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr14:19553818C>T	ENST00000409832.3	+	1	454	c.402C>T	c.(400-402)caC>caT	p.H134H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	134										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CGAGGTACCACGTCCGTCGAG	0.587													T	19553818	C	T	19553818	2	4	391	1	0	0	0	0	0	0	0	1	12343	535	19	1		1	POTEG	14	19553818	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08		19553818	87795722	32	40364											
TCF12	6938	broad.mit.edu	37	chr15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															cagaaatcaagactgaaaacAaagaaaaggatgaaaacctt																										TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.KE523fs	TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								-	57555369	AAAG	-	57555366	7	5	391	1	0	1	0	1	0	0	0	0	15787	131	5	0	1778	0	TCF12	15	57555366	Frame_Shift_Del	DEL	AAAG	TCGA-DU-7018-01A-11D-2024-08		57555366	44976026	33	40365											
PDE8A	5151	broad.mit.edu	37	chr15	85681058	85681058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcctgatttaatgcagcAtcttgacaacaactttaaat	13	13	5	10	0	1	2	0	2	1	0	1	2	1	2	2	0	5	2	2	0	5	5			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr15:85681058A>G	ENST00000310298.4	+	23	2666	c.2414A>G	c.(2413-2415)cAt>cGt	p.H805R	PDE8A_ENST00000339708.5_Missense_Mutation_p.H759R|PDE8A_ENST00000557957.1_Missense_Mutation_p.H733R|PDE8A_ENST00000394553.1_Missense_Mutation_p.H805R			O60658	PDE8A_HUMAN	phosphodiesterase 8A	805	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TTAATGCAGCATCTTGACAAC	0.463													G	85681058	A	G	85681058	3	3	391	1	0	0	0	0	1	0	0	0	11729	217	8	3	2500	3	PDE8A	15	85681058	Missense_Mutation	SNP	A	TCGA-DU-7018-01A-11D-2024-08	28125692	85681058	16850334	34	40366											
HS3ST6	64711	broad.mit.edu	37	chr16	1962181	1962181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctccatggtgatctgccCatccagggttcggggcatca	6	11	11	13	1	3	1	1	1	2	0	6	1	4	1	3	4	1	2	3	4	0	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr16:1962181C>T	ENST00000454677.2	-	2	555	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	HS3ST6_ENST00000293937.3_Missense_Mutation_p.G147R|HS3ST6_ENST00000443547.1_Missense_Mutation_p.G116R			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	116										endometrium(2)|lung(2)	4						GTGATCTGCCCATCCAGGGTT	0.687													T	1962181	C	T	1962181	3	4	391	1	0	0	0	0	1	0	0	0	7424	594	21	2	593	2	HS3ST6	16	1962181	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		1962181	88392572	35	40367											
OR1A1	8383	broad.mit.edu	37	chr17	3119139	3119139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgacatcttcttctcatcGgtaaccatccctaagatgct	9	14	6	12	1	3	2	1	1	3	1	6	2	4	2	2	1	2	3	2	1	2	5	rs113780617		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:3119139G>A	ENST00000304094.1	+	1	225	c.225G>A	c.(223-225)tcG>tcA	p.S75S		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TCTTCTCATCGGTAACCATCC	0.483													A	3119139	G	A	3119139	2	1	391	1	0	0	0	0	0	0	0	1	11025	1103	39	1		1	OR1A1	17	3119139	Silent	SNP	G	TCGA-DU-7018-01A-11D-2024-08		3119139	78076071	36	40368											
PLCD3	113026	broad.mit.edu	37	chr17	43194022	43194022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggatggcagctcctcggGatttggggagtccagcgcct	5	9	17	10	2	0	0	0	0	0	0	3	3	2	3	3	6	2	2	3	6	0	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:43194022G>T	ENST00000322765.5	-	8	1503	c.1390C>A	c.(1390-1392)Ccc>Acc	p.P464T	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	464	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	AGCTCCTCGGGATTTGGGGAG	0.692													T	43194022	G	T	43194022	3	4	391	1	0	0	0	0	1	0	0	0	12109	1174	41	4	1010	4	PLCD3	17	43194022	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	40074883	43194022	38001188	37	40369											
OR4D2	124538	broad.mit.edu	37	chr17	56247641	56247641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtgggctgctggatgtcGtctggttcttcctcctcctg	3	14	12	12	1	2	0	0	0	2	0	6	1	5	1	3	3	1	3	3	3	0	2	rs149114670		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr17:56247641G>A	ENST00000545221.1	+	1	625	c.625G>A	c.(625-627)Gtc>Atc	p.V209I		NM_001004707.3	NP_001004707.1	P58180	OR4D2_HUMAN	olfactory receptor, family 4, subfamily D, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V209I(2)		breast(1)|kidney(1)|large_intestine(1)|lung(19)|ovary(1)|skin(2)|stomach(1)	26						GCTGGATGTCGTCTGGTTCTT	0.527													A	56247641	G	A	56247641	3	1	391	1	0	0	0	0	1	0	0	0	11132	1145	40	1	627	1	OR4D2	17	56247641	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	13053619	56247641	24947569	38	40370											
SMARCA4	6597	broad.mit.edu	37	chr19	11144121	11144121	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtgatccaggccggcatgttCgaccagaagtcctccagcca	9	7	11	14	2	0	2	0	1	0	1	4	3	3	2	6	2	1	2	6	2	1	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:11144121C>G	ENST00000358026.2	+	26	3986	c.3702C>G	c.(3700-3702)ttC>ttG	p.F1234L	SMARCA4_ENST00000413806.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000538456.3_3'UTR|SMARCA4_ENST00000344626.4_Missense_Mutation_p.F1234L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.F1234L|SMARCA4_ENST00000429416.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.F1234L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.F1234L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.F1234L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1234	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.F1234L(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGGCATGTTCGACCAGAAGT	0.637			"F, N, Mis"		NSCLC								G	11144121	C	G	11144121	3	3	391	1	0	0	0	0	1	0	0	0	14864	883	31	4	3800	4	SMARCA4	19	11144121	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08		11144121	47984862	39	40371											
ZNF91	7644	broad.mit.edu	37	chr19	23543197	23543197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgaagattgattaaaagCtttgccacattcctcacatt	13	15	5	8	0	1	3	1	2	0	1	2	3	2	3	2	0	2	1	2	0	3	6			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:23543197C>T	ENST00000300619.7	-	4	2789	c.2584G>A	c.(2584-2586)Gct>Act	p.A862T	ZNF91_ENST00000397082.2_Missense_Mutation_p.A830T|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	862						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				TGATTAAAAGCTTTGCCACAT	0.358													T	23543197	C	T	23543197	3	4	391	1	0	0	0	0	1	0	0	0	18299	797	28	2	995	2	ZNF91	19	23543197	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	12399076	23543197	35585786	40	40372											
CIC	23152	broad.mit.edu	37	chr19	42791372	42791373	+	Frame_Shift_Del	DEL	AG	AG	-																															ccccggctggacagtgagacAgagagtgaccatgatgatgc																										TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr19:42791372_42791373delAG	ENST00000572681.2	+	4	3227_3228	c.3159_3160delAG	c.(3157-3162)acagagfs	p.E1054fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.E145fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.E145fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	145	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACAGTGAGACAGAGAGTGACCA	0.663			"Mis, F, S"		oligodendroglioma								-	42791373	AG	-	42791372	7	5	391	1	0	1	0	1	0	0	0	0	3454	175	7	0	442	0	CIC	19	42791372	Frame_Shift_Del	DEL	AG	TCGA-DU-7018-01A-11D-2024-08	19248175	42791372	16337611	41	40373											
EDEM2	55741	broad.mit.edu	37	chr20	33722668	33722668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtcccaatccctgccGtacaggtgacaggggtctct	8	9	12	12	1	1	2	0	2	1	0	4	2	3	2	3	4	2	1	3	4	3	1			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr20:33722668G>A	ENST00000540582.1	-	10	1173	c.452C>T	c.(451-453)aCg>aTg	p.T151M	EDEM2_ENST00000374491.3_Missense_Mutation_p.T155M|EDEM2_ENST00000542871.1_Intron|EDEM2_ENST00000541621.1_De_novo_Start_InFrame|EDEM2_ENST00000374492.3_Missense_Mutation_p.T192M			Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	192					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			AATCCCTGCCGTACAGGTGAC	0.542													A	33722668	G	A	33722668	3	1	391	1	0	0	0	0	1	0	0	0	4951	1145	40	1	1185	1	EDEM2	20	33722668	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08		33722668	29302852	42	40374											
APOBEC3B	9582	broad.mit.edu	37	chr22	39387537	39387537	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacgtgagactgcgcatcttCgctgcccgcatctatgatta	8	11	9	13	4	2	2	0	2	2	1	3	3	2	2	1	0	2	3	1	0	2	3	rs144471703		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chr22:39387537C>T	ENST00000402182.3	+	6	979	c.924C>T	c.(922-924)ttC>ttT	p.F308F	APOBEC3B_ENST00000333467.3_Silent_p.F308F|APOBEC3B_ENST00000407298.3_Silent_p.F283F			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	308					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					TGCGCATCTTCGCTGCCCGCA	0.572													T	39387537	C	T	39387537	2	4	391	1	0	0	0	0	0	0	0	1	793	883	31	1		1	APOBEC3B	22	39387537	Silent	SNP	C	TCGA-DU-7018-01A-11D-2024-08		39387537	11917029	43	40375											
OTUD5	55593	broad.mit.edu	37	chrX	48791845	48791845	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctaacacgaatgggttcGtcctcgttttgatgtatccc	8	14	9	10	3	0	1	0	1	0	0	4	2	2	1	2	1	2	4	2	1	4	6			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:48791845G>A	ENST00000156084.4	-	5	1026	c.966C>T	c.(964-966)gaC>gaT	p.D322D	OTUD5_ENST00000396743.3_Silent_p.D317D|OTUD5_ENST00000376488.3_Silent_p.D317D|OTUD5_ENST00000428668.2_Silent_p.D100D|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU domain containing 5	322	OTU.				negative regulation of type I interferon production		cysteine-type peptidase activity			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						GAATGGGTTCGTCCTCGTTTT	0.507													A	48791845	G	A	48791845	2	1	391	1	0	0	0	0	0	0	0	1	11391	1136	40	1		1	OTUD5	23	48791845	Silent	SNP	G	TCGA-DU-7018-01A-11D-2024-08		48791845	106478715	44	40376											
ESX1	80712	broad.mit.edu	37	chrX	103499230	103499230	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctctcctccccttgcCatcagcgaggtcacggtaag	6	10	9	16	3	3	0	2	0	1	0	7	1	5	0	5	2	2	1	5	2	1	2			TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:103499230C>A	ENST00000372588.4	-	2	194	c.111G>T	c.(109-111)atG>atT	p.M37I		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	37					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						CTCCCCTTGCCATCAGCGAGG	0.602													A	103499230	C	A	103499230	3	1	391	1	0	0	0	0	1	0	0	0	5304	594	21	4	1121	4	ESX1	23	103499230	Missense_Mutation	SNP	C	TCGA-DU-7018-01A-11D-2024-08	54707385	103499230	51771330	45	40377											
SASH3	54440	broad.mit.edu	37	chrX	128914084	128914084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggaggaccatgctgcgccGcaagccctccaatgccagtg	8	6	13	14	2	0	0	0	0	0	0	1	2	1	2	5	2	4	2	5	2	2	0	rs140091268		TCGA-DU-7018-01A-11D-2024-08	TCGA-DU-7018-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	29c55a80-cd55-4297-b433-00d0e2b1e08d	453998d9-d9f9-479d-86c0-d889a58b836d	g.chrX:128914084G>A	ENST00000356892.3	+	1	125	c.11G>A	c.(10-12)cGc>cAc	p.R4H	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	4										breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						ATGCTGCGCCGCAAGCCCTCC	0.577													A	128914084	G	A	128914084	3	1	391	1	0	0	0	0	1	0	0	0	13941	1087	38	1	13	1	SASH3	23	128914084	Missense_Mutation	SNP	G	TCGA-DU-7018-01A-11D-2024-08	25414854	128914084	26356476	46	40378											
CLCNKB	1188	broad.mit.edu	37	chr1	16378309	16378309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcatgccaggggggtatgctCtggcaggtgagtgggtcagg	6	9	19	7	0	3	1	2	1	1	0	3	1	3	1	1	7	2	3	1	7	1	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:16378309C>T	ENST00000375679.4	+	14	1513	c.1402C>T	c.(1402-1404)Ctg>Ttg	p.L468L	CLCNKB_ENST00000375667.3_Silent_p.L299L	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGGGTATGCTCTGGCAGGTGA	0.622													T	16378309	C	T	16378309	2	4	392	1	0	0	0	0	0	0	0	1	3501	912	32	2		2	CLCNKB	1	16378309	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08		16378309	232872312	1	40379											
SPOCD1	90853	broad.mit.edu	37	chr1	32256502	32256502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagggatgctgggactggCgcaagcctggctctgggggc	7	7	18	9	1	1	0	0	0	1	0	1	2	1	2	1	6	2	3	1	6	3	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:32256502C>T	ENST00000360482.2	-	16	3482	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	SPOCD1_ENST00000257100.3_Missense_Mutation_p.R598H|SPOCD1_ENST00000533231.1_Missense_Mutation_p.R1105H|RP11-84A19.3_ENST00000527035.1_RNA|SPOCD1_ENST00000373648.2_3'UTR	NM_144569.4	NP_653170.3	Q6ZMY3	SPOC1_HUMAN	SPOC domain containing 1	1118					transcription, DNA-dependent					NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(1)|lung(7)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	37		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)|Ovarian(437;0.199)		STAD - Stomach adenocarcinoma(196;0.18)		CTGGGACTGGCGCAAGCCTGG	0.667													T	32256502	C	T	32256502	3	4	392	1	0	0	0	0	1	0	0	0	15174	768	27	1	301	1	SPOCD1	1	32256502	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	15878193	32256502	216994119	2	40380											
TPR	7175	broad.mit.edu	37	chr1	186302356	186302358	+	In_Frame_Del	DEL	GAG	GAG	-																															ttgattggcaggctcaatctGaggatgactctgttgagtgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr1:186302356_186302358delGAG	ENST00000367478.4	-	37	5647_5649	c.5351_5353delCTC	c.(5350-5355)cctcag>cag	p.P1784del		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		GGCTCAATCTGAGGATGACTCTG	0.443			T	NTRK1	papillary thyroid								-	186302358	GAG	-	186302356	7	5	392	1	0	1	0	1	0	0	0	0	16517	1299	45	0	1798	0	TPR	1	186302356	In_Frame_Del	DEL	GAG	TCGA-DU-7019-01A-11D-2024-08	154045854	186302356	62948265	3	40381											
CGREF1	10669	broad.mit.edu	37	chr2	27324256	27324257	+	Frame_Shift_Del	DEL	CT	CT	-																															tcctctccattctccctggcCtctgcctggcccccagcttc																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:27324256_27324257delCT	ENST00000402394.1	-	6	1110_1111	c.842_843delAG	c.(841-843)gagfs	p.E281fs	CGREF1_ENST00000312734.4_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000260595.5_Frame_Shift_Del_p.E264fs|CGREF1_ENST00000405600.1_Frame_Shift_Del_p.E281fs|CGREF1_ENST00000402550.1_Intron|CGREF1_ENST00000404694.3_Frame_Shift_Del_p.E403fs|CGREF1_ENST00000452318.2_Intron	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1	264					cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTCCCTGGCCTCTGCCTGGCC	0.614													-	27324257	CT	-	27324256	7	5	392	1	0	1	0	1	0	0	0	0	3335	680	24	0	309	0	CGREF1	2	27324256	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08		27324256	215875117	4	40382											
NEB	4703	broad.mit.edu	37	chr2	152544001	152544004	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															gtcattaatgctgagggctcCaatcattttccctttgctct																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:152544001_152544004delCAAT	ENST00000427231.2	-	27	2768_2771	c.2566_2569delATTG	c.(2566-2571)attggafs	p.IG856fs	NEB_ENST00000603639.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000409198.1_Frame_Shift_Del_p.IG856fs|NEB_ENST00000397345.3_Frame_Shift_Del_p.IG856fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.IG856fs	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	856					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CTGAGGGCTCCAATCATTTTCCCT	0.451													-	152544004	CAAT	-	152544001	7	5	392	1	0	1	0	1	0	0	0	0	10378	603	21	0	23741	0	NEB	2	152544001	Frame_Shift_Del	DEL	CAAT	TCGA-DU-7019-01A-11D-2024-08	125219745	152544001	90655372	5	40383											
DNAH7	56171	broad.mit.edu	37	chr2	196765182	196765182	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttcagcaatcatggcatAgtcaggtaccatcattgcta	12	13	7	9	0	4	0	4	0	0	0	4	0	4	0	1	2	3	4	1	2	5	6			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr2:196765182A>G	ENST00000312428.6	-	28	4472	c.4372T>C	c.(4372-4374)Tat>Cat	p.Y1458H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1458	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCATGGCATAGTCAGGTACC	0.418													G	196765182	A	G	196765182	3	3	392	1	0	0	0	0	1	0	0	0	4645	420	15	3	7854	3	DNAH7	2	196765182	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08	44221181	196765182	46434191	6	40384											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	392	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	12347930	209113112	34086261	7	40385											
SCN5A	6331	broad.mit.edu	37	chr3	38598771	38598771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatccagcctttaaatGttgcctgggaggaaaagaca	12	10	10	9	0	0	1	0	0	0	1	2	3	2	3	4	2	2	1	4	2	4	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr3:38598771G>A	ENST00000413689.1	-	24	4443	c.4250C>T	c.(4249-4251)aCa>aTa	p.T1417I	SCN5A_ENST00000451551.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000425664.1_Intron|SCN5A_ENST00000414099.2_Intron|SCN5A_ENST00000455624.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000423572.2_Missense_Mutation_p.T1416I|SCN5A_ENST00000443581.1_Missense_Mutation_p.T1416I|SCN5A_ENST00000450102.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000449557.2_Missense_Mutation_p.T1363I|SCN5A_ENST00000333535.4_Missense_Mutation_p.T1417I	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1417					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	GCCTTTAAATGTTGCCTGGGA	0.498													A	38598771	G	A	38598771	3	1	392	1	0	0	0	0	1	0	0	0	14015	1377	48	2	1820	2	SCN5A	3	38598771	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		38598771	159423659	8	40386											
KIAA1211	57482	broad.mit.edu	37	chr4	57182125	57182125	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacagagttcacgacctcGtcggacagcgagactgcaaa	13	5	10	13	4	1	2	1	0	0	2	3	5	1	3	1	1	2	2	1	1	1	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:57182125G>A	ENST00000504228.1	+	6	2562	c.2457G>A	c.(2455-2457)tcG>tcA	p.S819S	KIAA1211_ENST00000264229.6_Silent_p.S819S|KIAA1211_ENST00000541073.1_Silent_p.S812S			Q6ZU35	K1211_HUMAN	KIAA1211	819										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TCACGACCTCGTCGGACAGCG	0.537													A	57182125	G	A	57182125	2	1	392	1	0	0	0	0	0	0	0	1	8273	1132	40	1		1	KIAA1211	4	57182125	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		57182125	133972151	9	40387											
IBSP	3381	broad.mit.edu	37	chr4	88732559	88732561	+	In_Frame_Del	DEL	GAA	GAA	-																															caaaagagaaggaaagtgatGaagaagaagaggaggaagag																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:88732559_88732561delGAA	ENST00000226284.5	+	7	518_520	c.451_453delGAA	c.(451-453)gaadel	p.E158del		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	158	Asp/Glu-rich (acidic).|Poly-Glu.				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		GGAAAGTGATgaagaagaagagg	0.394													-	88732561	GAA	-	88732559	7	5	392	1	0	1	0	1	0	0	0	0	7533	1291	45	0	473	0	IBSP	4	88732559	In_Frame_Del	DEL	GAA	TCGA-DU-7019-01A-11D-2024-08	31550434	88732559	102421717	10	40388											
PRMT10	90826	broad.mit.edu	37	chr4	148594115	148594115	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttacatgataatacctttcGggaatatgttttggaatctc	11	17	7	6	1	1	1	0	1	1	0	3	3	1	3	1	2	2	1	1	2	6	8			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr4:148594115G>T	ENST00000322396.6	-	4	980	c.738C>A	c.(736-738)ccC>ccA	p.P246P	PRMT10_ENST00000541232.1_Silent_p.P133P	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	246						cytoplasm	binding|protein methyltransferase activity	p.P246P(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						AATACCTTTCGGGAATATGTT	0.328													T	148594115	G	T	148594115	2	4	392	1	0	0	0	0	0	0	0	1	12622	1103	39	4		4	PRMT10	4	148594115	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	59861556	148594115	42560161	11	40389											
CPEB4	80315	broad.mit.edu	37	chr5	173317571	173317574	+	Frame_Shift_Del	DEL	AACA	AACA	-																															ctcatttggcgaataatcttAacaaacccccctctccgtgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr5:173317571_173317574delAACA	ENST00000265085.5	+	1	2289_2292	c.835_838delAACA	c.(835-840)aacaaafs	p.NK279fs	CPEB4_ENST00000519835.1_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000334035.5_Frame_Shift_Del_p.NK279fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.NK279fs	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	279							nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GAATAATCTTAACAAACCCCCCTC	0.574													-	173317574	AACA	-	173317571	7	5	392	1	0	1	0	1	0	0	0	0	3834	362	13	0	837	0	CPEB4	5	173317571	Frame_Shift_Del	DEL	AACA	TCGA-DU-7019-01A-11D-2024-08		173317571	7597689	12	40390											
PRIM2	5558	broad.mit.edu	37	chr6	57185254	57185254	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccttttttcttttttttaGtgttaaaatcagttgaaaat	11	22	4	4	0	2	1	1	1	1	0	2	1	2	1	1	0	1	2	1	0	6	10			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr6:57185254G>T	ENST00000607273.1	+	3	241		c.e3-1		PRIM2_ENST00000389488.2_Splice_Site	NM_000947.3	NP_000938.2	P49643	PRI2_HUMAN	primase, DNA, polypeptide 2 (58kDa)						DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	4 iron, 4 sulfur cluster binding|DNA binding|DNA primase activity|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(34)|prostate(6)|stomach(4)|upper_aerodigestive_tract(1)	59				Colorectal(6;0.041)|READ - Rectum adenocarcinoma(7;0.193)		CTTTTTTTTAGTGTTAAAATC	0.328													T	57185254	G	T	57185254	5	4	392	1	0	0	0	0	0	0	1	0	12577	1043	36	4	160	4	PRIM2	6	57185254	Splice_Site	SNP	G	TCGA-DU-7019-01A-11D-2024-08		57185254	113929813	13	40391											
PRPS1L1	221823	broad.mit.edu	37	chr7	18067044	18067044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatggtgatgatatgatccGcacctgctatagagagcata	12	10	10	9	1	0	4	0	3	0	1	1	5	1	4	3	1	2	3	3	1	4	4			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr7:18067044G>A	ENST00000506618.2	-	1	442	c.362C>T	c.(361-363)gCg>gTg	p.A121V		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	121					nucleoside metabolic process|ribonucleoside monophosphate biosynthetic process		ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					GATATGATCCGCACCTGCTAT	0.473													A	18067044	G	A	18067044	3	1	392	1	0	0	0	0	1	0	0	0	12665	1087	38	1	598	1	PRPS1L1	7	18067044	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		18067044	141071619	14	40392											
ADAM2	2515	broad.mit.edu	37	chr8	39634592	39634592	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctgagcactggcatttgTtaatgtcatcataagtgatc	10	14	8	9	0	2	2	2	2	0	0	4	2	3	2	1	1	1	3	1	1	2	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:39634592T>C	ENST00000265708.4	-	11	1083	c.980A>G	c.(979-981)aAc>aGc	p.N327S	ADAM2_ENST00000347580.4_Missense_Mutation_p.N308S|ADAM2_ENST00000521880.1_Missense_Mutation_p.N327S|ADAM2_ENST00000379853.2_Missense_Mutation_p.N201S	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	327	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		CTGGCATTTGTTAATGTCATC	0.338													C	39634592	T	C	39634592	3	2	392	1	0	0	0	0	1	0	0	0	241	1725	60	3	1267	3	ADAM2	8	39634592	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08		39634592	106729430	15	40393											
SNX16	64089	broad.mit.edu	37	chr8	82752142	82752144	+	In_Frame_Del	DEL	CTT	CTT	-																															agacactgccaaaagaagaaCttctttgatttctgtttgtt																								rs142163451		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr8:82752142_82752144delCTT	ENST00000396330.2	-	3	584_586	c.78_80delAAG	c.(76-81)agaagt>agt	p.R26del	SNX16_ENST00000353788.4_In_Frame_Del_p.R26del|SNX16_ENST00000345957.4_In_Frame_Del_p.R26del	NM_022133.3	NP_071416.2	P57768	SNX16_HUMAN	sorting nexin 16	26					cell communication|early endosome to late endosome transport|endosome to lysosome transport|protein targeting to lysosome	early endosome membrane|extrinsic to endosome membrane|late endosome membrane|lysosome	identical protein binding|phosphatidylinositol binding			large_intestine(1)|ovary(1)|pancreas(1)|skin(2)	5						AAAAGAAGAACTTCTTTGATTTC	0.389													-	82752144	CTT	-	82752142	7	5	392	1	0	1	0	1	0	0	0	0	14981	565	20	0	982	0	SNX16	8	82752142	In_Frame_Del	DEL	CTT	TCGA-DU-7019-01A-11D-2024-08	43117550	82752142	63611880	16	40394											
LRRC8A	56262	broad.mit.edu	37	chr9	131671134	131671134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccacaggtggtcacagAtgtgggcgtgcacctgcaga	8	7	15	11	1	1	2	1	0	0	2	1	2	1	2	2	3	3	3	2	3	0	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:131671134A>G	ENST00000259324.5	+	3	2214	c.1691A>G	c.(1690-1692)gAt>gGt	p.D564G	LRRC8A_ENST00000372599.3_Missense_Mutation_p.D564G|LRRC8A_ENST00000372600.4_Missense_Mutation_p.D564G	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	564					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						GTGGTCACAGATGTGGGCGTG	0.572													G	131671134	A	G	131671134	3	3	392	1	0	0	0	0	1	0	0	0	9091	333	12	3	1693	3	LRRC8A	9	131671134	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08		131671134	9542297	17	40395											
RPL7A	6130	broad.mit.edu	37	chr9	136216484	136216484	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggttgcagcggcagagagCcatcctctataagcggctga	10	7	13	11	2	1	2	0	1	1	1	2	3	2	2	2	3	4	4	2	3	2	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr9:136216484C>G	ENST00000323345.6	+	3	233	c.203C>G	c.(202-204)gCc>gGc	p.A68G	RPL7A_ENST00000463740.1_3'UTR|RPL7A_ENST00000315731.4_Intron	NM_000972.2	NP_000963.1	P62424	RL7A_HUMAN	ribosomal protein L7a	68					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|membrane fraction|polysomal ribosome	RNA binding|structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	7				OV - Ovarian serous cystadenocarcinoma(145;4.93e-07)|Epithelial(140;4.09e-06)|all cancers(34;3.78e-05)		CGGCAGAGAGCCATCCTCTAT	0.552													G	136216484	C	G	136216484	3	3	392	1	0	0	0	0	1	0	0	0	13691	739	26	4	213	4	RPL7A	9	136216484	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	4545350	136216484	4996947	18	40396											
UBE4A	9354	broad.mit.edu	37	chr11	118239407	118239407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagagagcctggatgaattCgattactctgtggctgagat	10	12	12	7	1	2	3	1	2	1	2	3	7	2	4	1	2	2	1	1	2	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr11:118239407C>T	ENST00000252108.3	+	3	314	c.183C>T	c.(181-183)ttC>ttT	p.F61F	UBE4A_ENST00000431736.2_Silent_p.F61F	NM_001204077.1|NM_004788.3	NP_001191006.1|NP_004779.2	Q14139	UBE4A_HUMAN	ubiquitination factor E4A	61					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding			autonomic_ganglia(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(7)|liver(2)|lung(14)|ovary(3)|prostate(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	56	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.28e-05)		TGGATGAATTCGATTACTCTG	0.433													T	118239407	C	T	118239407	2	4	392	1	0	0	0	0	0	0	0	1	16984	883	31	1		1	UBE4A	11	118239407	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08		118239407	16767109	19	40397											
MAP3K12	7786	broad.mit.edu	37	chr12	53876125	53876127	+	In_Frame_Del	DEL	TCC	TCC	-																															cttcactgtctacctctcctTcctcctcttccgatgagatg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:53876125_53876127delTCC	ENST00000267079.2	-	13	2391_2393	c.2166_2168delGGA	c.(2164-2169)gaggaa>gaa	p.722_723EE>E	MAP3K12_ENST00000547035.1_In_Frame_Del_p.755_756EE>E|MAP3K12_ENST00000547488.1_In_Frame_Del_p.755_756EE>E	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	722	Glu-rich (acidic).				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TACCTCTCCTTCCTCCTCTTCCG	0.493													-	53876127	TCC	-	53876125	7	5	392	1	0	1	0	1	0	0	0	0	9321	1783	62	0	423	0	MAP3K12	12	53876125	In_Frame_Del	DEL	TCC	TCGA-DU-7019-01A-11D-2024-08		53876125	79975770	20	40398											
P2RX4	5025	broad.mit.edu	37	chr12	121670817	121670819	+	In_Frame_Del	DEL	CAT	CAT	-																															caggcgaccgtgctgtgtgaCatcatagtcctctactgcat																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:121670817_121670819delCAT	ENST00000337233.4	+	11	1370_1372	c.1062_1064delCAT	c.(1060-1065)gacatc>gac	p.I356del	P2RX4_ENST00000359949.7_In_Frame_Del_p.I372del|P2RX4_ENST00000543171.1_In_Frame_Del_p.I255del	NM_001261397.1|NM_001261398.1|NM_002560.2	NP_001248326.1|NP_001248327.1|NP_002551.2	Q99571	P2RX4_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 4	356					endothelial cell activation|negative regulation of cardiac muscle hypertrophy|positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|regulation of apoptosis|regulation of blood pressure|regulation of sodium ion transport|relaxation of cardiac muscle|response to ATP|response to fluid shear stress|sensory perception of pain|tissue homeostasis	cell junction|perinuclear region of cytoplasm	cadherin binding|copper ion binding|extracellular ATP-gated cation channel activity|protein homodimerization activity|purinergic nucleotide receptor activity|receptor binding|zinc ion binding			breast(1)|kidney(4)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCTGTGTGACATCATAGTCCTC	0.498													-	121670819	CAT	-	121670817	7	5	392	1	0	1	0	1	0	0	0	0	11418	477	17	0	1104	0	P2RX4	12	121670817	In_Frame_Del	DEL	CAT	TCGA-DU-7019-01A-11D-2024-08	67794692	121670817	12181078	21	40399											
DNAH10	196385	broad.mit.edu	37	chr12	124335566	124335566	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtcgtgatcgtgccCgacctgcagcagatctgtga	6	10	13	12	3	1	3	0	2	1	1	3	4	1	3	3	1	3	2	3	1	0	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr12:124335566C>T	ENST00000409039.3	+	34	5905	c.5880C>T	c.(5878-5880)ccC>ccT	p.P1960P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1960	AAA 1 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TGATCGTGCCCGACCTGCAGC	0.632													T	124335566	C	T	124335566	2	4	392	1	0	0	0	0	0	0	0	1	4637	639	23	1		1	DNAH10	12	124335566	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	2664749	124335566	9516329	22	40400											
TBC1D4	9882	broad.mit.edu	37	chr13	76055900	76055900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaatgcagctgggcggctCcataactctcgcctcaccag	8	8	10	15	2	2	1	1	1	1	0	4	1	3	1	3	2	3	3	3	2	2	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr13:76055900C>T	ENST00000377636.3	-	1	350	c.4G>A	c.(4-6)Gag>Aag	p.E2K	TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.E2K|TBC1D4_ENST00000377625.2_Missense_Mutation_p.E2K	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	2						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		CTGGGCGGCTCCATAACTCTC	0.731													T	76055900	C	T	76055900	3	4	392	1	0	0	0	0	1	0	0	0	15722	864	30	2	3976	2	TBC1D4	13	76055900	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08		76055900	39113978	23	40401											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25251836	25251836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcctctgatgcacaacGgctttccctaaatctctagg	11	10	8	12	1	2	1	0	1	2	0	4	1	3	1	2	3	2	2	2	3	5	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr16:25251836G>A	ENST00000328086.7	-	7	3008	c.2205C>T	c.(2203-2205)gcC>gcT	p.A735A		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	735					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		GATGCACAACGGCTTTCCCTA	0.473													A	25251836	G	A	25251836	2	1	392	1	0	0	0	0	0	0	0	1	17788	1103	39	1		1	ZKSCAN2	16	25251836	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		25251836	65102917	24	40402											
OR3A2	4995	broad.mit.edu	37	chr17	3181606	3181606	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgaaacccacagcaaaGagcagcagctcattgagttg	15	7	10	9	0	1	4	1	3	0	1	1	4	1	4	1	0	5	5	1	0	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3181606G>A	ENST00000408891.2	-	1	662	c.624C>T	c.(622-624)ctC>ctT	p.L208L		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	208					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						CCACAGCAAAGAGCAGCAGCT	0.537													A	3181606	G	A	3181606	2	1	392	1	0	0	0	0	0	0	0	1	11114	929	33	2		2	OR3A2	17	3181606	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08		3181606	78013604	25	40403											
TRPV3	162514	broad.mit.edu	37	chr17	3458099	3458100	+	Frame_Shift_Del	DEL	CT	CT	-																															gttcccactgggggcagcaaCtctcttgcccatgagaggca																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:3458099_3458100delCT	ENST00000301365.4	-	2	176_177	c.45_46delAG	c.(43-48)agagttfs	p.RV15fs	TRPV3_ENST00000572519.1_Frame_Shift_Del_p.RV15fs|TRPV3_ENST00000576742.1_Frame_Shift_Del_p.RV15fs			Q8NET8	TRPV3_HUMAN	transient receptor potential cation channel, subfamily V, member 3	15						integral to membrane	calcium channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(12)|ovary(5)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	35					Menthol(DB00825)	GGGGCAGCAACTCTCTTGCCCA	0.619													-	3458100	CT	-	3458099	7	5	392	1	0	1	0	1	0	0	0	0	16698	565	20	0	2394	0	TRPV3	17	3458099	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08	276493	3458099	77737111	26	40404											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	392	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	4120307	7578406	73616804	27	40405											
WRAP53	55135	broad.mit.edu	37	chr17	7592042	7592042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagctccagcccatcctTctccccacgcttccccgatg	6	8	5	22	2	1	0	0	0	1	0	5	1	4	0	8	0	2	2	8	0	0	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:7592042T>C	ENST00000316024.5	+	1	2424	c.76T>C	c.(76-78)Tct>Cct	p.S26P	WRAP53_ENST00000396463.2_Missense_Mutation_p.S26P|WRAP53_ENST00000431639.2_Missense_Mutation_p.S26P|WRAP53_ENST00000457584.2_Missense_Mutation_p.S26P|WRAP53_ENST00000534050.1_Missense_Mutation_p.S26P			Q9BUR4	WAP53_HUMAN	WD repeat containing, antisense to TP53	26	Pro-rich.				positive regulation of telomerase activity|telomere formation via telomerase	Cajal body|cytoplasm|telomerase holoenzyme complex	protein binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|stomach(2)	18						AGCCCATCCTTCTCCCCACGC	0.587													C	7592042	T	C	7592042	3	2	392	1	0	0	0	0	1	0	0	0	17502	1783	62	3	78	3	WRAP53	17	7592042	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08	13636	7592042	73603168	28	40406											
HAP1	9001	broad.mit.edu	37	chr17	39881249	39881249	+	Frame_Shift_Del	DEL	C	C	-																															ttccatcaccccttcctcagCcggcaccttcttggcagccc																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:39881249delC	ENST00000393939.2	-	10	1498	c.1489delG	c.(1489-1491)gctfs	p.A497fs	HAP1_ENST00000347901.4_Frame_Shift_Del_p.A522fs|JUP_ENST00000540235.1_Intron|HAP1_ENST00000341193.5_Frame_Shift_Del_p.A505fs|HAP1_ENST00000310778.5_Frame_Shift_Del_p.A574fs			P54257	HAP1_HUMAN	huntingtin-associated protein 1	557	Glu-rich.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			CCTTCCTCAGCCGGCACCTTC	0.627													-	39881249	C	-	39881249	7	5	392	1	0	1	0	1	0	0	0	0	7008	739	26	0	299	0	HAP1	17	39881249	Frame_Shift_Del	DEL	C	TCGA-DU-7019-01A-11D-2024-08	32289207	39881249	41313961	29	40407											
CACNA1G	8913	broad.mit.edu	37	chr17	48687284	48687284	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccggcagctcagccAgcgctgcgtcaggtactgcg	5	9	13	14	4	2	0	2	0	0	0	3	0	3	0	2	2	7	5	2	2	1	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:48687284A>C	ENST00000359106.5	+	26	4747	c.4747A>C	c.(4747-4749)Agc>Cgc	p.S1583R	CACNA1G_ENST00000514181.1_Intron|CACNA1G_ENST00000505165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000512389.1_Intron|CACNA1G_ENST00000510366.1_Intron|CACNA1G_ENST00000354983.4_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S1583R|CACNA1G_ENST00000515411.1_Intron|CACNA1G_ENST00000442258.2_Intron|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S1560R|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S1549R|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S1526R|CACNA1G_ENST00000510115.1_Intron|CACNA1G_ENST00000513689.2_Intron|CACNA1G_ENST00000429973.2_Intron|CACNA1G_ENST00000352832.5_Intron|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S1590R|CACNA1G_ENST00000513964.1_Intron|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S1583R|CACNA1G_ENST00000507336.1_Intron|CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000515765.1_Intron|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S1560R|CACNA1G_ENST00000507896.1_Intron	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1583					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CAGCTCAGCCAGCGCTGCGTC	0.587													C	48687284	A	C	48687284	3	2	392	1	0	0	0	0	1	0	0	0	2570	188	7	5	5116	5	CACNA1G	17	48687284	Missense_Mutation	SNP	A	TCGA-DU-7019-01A-11D-2024-08	8806035	48687284	32507926	30	40408											
SUMO2	6613	broad.mit.edu	37	chr17	73177151	73177151	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtacacatatgaattcctcaCctgtcgttcacaataggctt	11	13	6	11	1	2	1	2	1	0	0	4	1	3	1	2	1	1	3	2	1	5	6			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr17:73177151C>G	ENST00000420826.2	-	2	302		c.e2+1		SUMO2_ENST00000314523.7_Splice_Site|SUMO2_ENST00000578238.1_Splice_Site	NM_006937.3	NP_008868.3	P61956	SUMO2_HUMAN	small ubiquitin-like modifier 2						positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein sumoylation	nucleus	ubiquitin protein ligase binding			NS(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					GAATTCCTCACCTGTCGTTCA	0.363													G	73177151	C	G	73177151	5	3	392	1	0	0	0	0	0	0	1	0	15484	521	18	4	145	4	SUMO2	17	73177151	Splice_Site	SNP	C	TCGA-DU-7019-01A-11D-2024-08	24489867	73177151	8018059	31	40409											
C19orf26	255057	broad.mit.edu	37	chr19	1231248	1231248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactggctgcccgctgccGctggaagtggtgccgcttgg	3	9	15	14	3	1	0	1	0	0	0	1	1	1	1	3	4	3	4	3	4	1	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:1231248G>A	ENST00000590083.1	-	9	1298	c.1006C>T	c.(1006-1008)Cgg>Tgg	p.R336W	C19orf26_ENST00000215376.6_Missense_Mutation_p.R330W|C19orf26_ENST00000382477.2_Missense_Mutation_p.R356W			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	356						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		GCCCGCTGCCGCTGGAAGTGG	0.667										HNSCC(14;0.022)			A	1231248	G	A	1231248	3	1	392	1	0	0	0	0	1	0	0	0	1935	1086	38	1	359	1	C19orf26	19	1231248	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		1231248	57897735	32	40410											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-																															gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								-	11106928	AGA	-	11106926	7	5	392	1	0	1	0	1	0	0	0	0	14864	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-DU-7019-01A-11D-2024-08	9875678	11106926	48022057	33	40411											
NWD1	284434	broad.mit.edu	37	chr19	16860740	16860740	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgtctcttgcagaaacttCgagtctctcgtgctcctgct	6	14	8	13	2	2	1	0	0	2	1	7	2	3	1	1	0	4	3	1	0	1	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:16860740C>T	ENST00000524140.2	+	6	1705	c.1287C>T	c.(1285-1287)ttC>ttT	p.F429F	NWD1_ENST00000523826.1_Silent_p.F223F|NWD1_ENST00000552788.1_Silent_p.F429F|NWD1_ENST00000549814.1_Silent_p.F429F|NWD1_ENST00000339803.6_Silent_p.F294F|NWD1_ENST00000379808.3_Silent_p.F429F	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	429	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GCAGAAACTTCGAGTCTCTCG	0.617													T	16860740	C	T	16860740	2	4	392	1	0	0	0	0	0	0	0	1	10857	883	31	1		1	NWD1	19	16860740	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	5753814	16860740	42268243	34	40412											
PVR	5817	broad.mit.edu	37	chr19	45153147	45153147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagccagtgcccatggcccGctgcgtctccacagggggtc	6	6	14	15	2	1	1	0	0	1	1	3	1	1	1	4	3	3	1	4	3	0	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:45153147G>A	ENST00000425690.3	+	3	793	c.494G>A	c.(493-495)cGc>cAc	p.R165H	PVR_ENST00000344956.4_Missense_Mutation_p.R165H|PVR_ENST00000406449.4_Missense_Mutation_p.R165H|PVR_ENST00000403059.4_Missense_Mutation_p.R165H|CTB-171A8.1_ENST00000590796.1_RNA	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	165	Ig-like C2-type 1.				adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		CCCATGGCCCGCTGCGTCTCC	0.612													A	45153147	G	A	45153147	3	1	392	1	0	0	0	0	1	0	0	0	12925	1087	38	1	504	1	PVR	19	45153147	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08	28292407	45153147	13975836	35	40413											
ZC3H4	23211	broad.mit.edu	37	chr19	47575123	47575123	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgggctggcgggataggGggcatcattccagaatgtgg	7	10	17	7	1	2	1	1	0	1	1	3	2	3	2	1	6	0	2	1	6	2	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:47575123G>A	ENST00000253048.5	-	13	2095	c.2058C>T	c.(2056-2058)ccC>ccT	p.P686P	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	686	Pro-rich.						nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GCGGGATAGGGGGCATCATTC	0.622													A	47575123	G	A	47575123	2	1	392	1	0	0	0	0	0	0	0	1	17671	1219	43	2		2	ZC3H4	19	47575123	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	2421976	47575123	11553860	36	40414											
LILRA1	11024	broad.mit.edu	37	chr19	55106273	55106273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcaccctggattacaCggatcccacaggagattgtg	13	7	10	11	1	0	1	0	0	0	1	1	4	1	3	2	3	3	1	2	3	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr19:55106273C>T	ENST00000453777.1	+	4	384	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R72W	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	72	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGGATTACACGGATCCCACA	0.562													T	55106273	C	T	55106273	3	4	392	1	0	0	0	0	1	0	0	0	8844	527	19	1	224	1	LILRA1	19	55106273	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	7531150	55106273	4022710	37	40415											
SLC24A3	57419	broad.mit.edu	37	chr20	19677486	19677486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggattcctgacgtcatcatgGggatcaccttcctggctgct	6	12	11	12	1	3	1	3	1	0	0	5	3	5	3	3	4	1	2	3	4	0	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:19677486G>A	ENST00000328041.6	+	14	1734	c.1537G>A	c.(1537-1539)Ggg>Agg	p.G513R	RP4-718D20.3_ENST00000609846.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	513						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CGTCATCATGGGGATCACCTT	0.592													A	19677486	G	A	19677486	3	1	392	1	0	0	0	0	1	0	0	0	14561	1232	43	2	1591	2	SLC24A3	20	19677486	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08		19677486	43348034	38	40416											
KCNG1	3755	broad.mit.edu	37	chr20	49626525	49626527	+	In_Frame_Del	DEL	GAA	GAA	-																															aaggcccccgggttgcggtcGaagaagaactcgttgcaggt																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr20:49626525_49626527delGAA	ENST00000371571.4	-	2	634_636	c.349_351delTTC	c.(349-351)ttcdel	p.F117del	RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_In_Frame_Del_p.F117del	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	117						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGTTGCGGTCGAAGAAGAACTCG	0.645													-	49626527	GAA	-	49626525	7	5	392	1	0	1	0	1	0	0	0	0	8085	1049	37	0	1198	0	KCNG1	20	49626525	In_Frame_Del	DEL	GAA	TCGA-DU-7019-01A-11D-2024-08	29949039	49626525	13398995	39	40417											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859568	31859568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcagcagccatctcCacagcctctgtggccacaac	9	6	10	16	0	2	0	0	0	2	0	3	0	2	0	4	2	5	3	4	2	1	0			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:31859568C>T	ENST00000334055.3	-	1	187	c.100G>A	c.(100-102)Gga>Aga	p.G34R		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	34						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						CAGCCATCTCCACAGCCTCTG	0.512													T	31859568	C	T	31859568	3	4	392	1	0	0	0	0	1	0	0	0	8587	603	21	2	60	2	KRTAP19-2	21	31859568	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08		31859568	16270327	40	40418											
KCNJ15	3772	broad.mit.edu	37	chr21	39671533	39671533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggactctctcactggggCgtttctcttttccctggaat	5	15	10	11	1	3	0	1	0	2	0	6	2	4	2	1	4	0	1	1	4	1	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr21:39671533C>T	ENST00000328656.4	+	4	653	c.350C>T	c.(349-351)gCg>gTg	p.A117V	KCNJ15_ENST00000398930.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398934.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398932.1_Missense_Mutation_p.A117V|KCNJ15_ENST00000398938.2_Missense_Mutation_p.A117V	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						CTCACTGGGGCGTTTCTCTTT	0.493													T	39671533	C	T	39671533	3	4	392	1	0	0	0	0	1	0	0	0	8107	768	27	1	352	1	KCNJ15	21	39671533	Missense_Mutation	SNP	C	TCGA-DU-7019-01A-11D-2024-08	7811965	39671533	8458362	41	40419											
SMARCB1	6598	broad.mit.edu	37	chr22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-																															gtggtgcccactgctggagaCtctgacagacgctgagatgg																										TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:24175836_24175837delCT	ENST00000344921.6	+	8	1298_1299	c.1091_1092delCT	c.(1090-1092)actfs	p.T364fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	355					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							-	24175837	CT	-	24175836	7	5	392	1	0	1	0	1	0	0	0	0	14868	565	20	0	1094	0	SMARCB1	22	24175836	Frame_Shift_Del	DEL	CT	TCGA-DU-7019-01A-11D-2024-08		24175836	27128730	42	40420											
RASL10A	10633	broad.mit.edu	37	chr22	29709887	29709887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctgccgcagggccttcacGtagtcgaaactgtccgggct	6	8	13	14	5	1	0	1	0	0	0	3	1	2	0	3	2	2	4	3	2	2	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:29709887G>A	ENST00000401450.3	-	2	754	c.309C>T	c.(307-309)taC>taT	p.Y103Y	RASL10A_ENST00000216101.6_Silent_p.Y103Y|RASL10A_ENST00000608559.1_5'UTR			Q92737	RSLAA_HUMAN	RAS-like, family 10, member A	103	Small GTPase-like.				small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity			NS(1)	1						GGGCCTTCACGTAGTCGAAAC	0.652													A	29709887	G	A	29709887	2	1	392	1	0	0	0	0	0	0	0	1	13167	1140	40	1		1	RASL10A	22	29709887	Silent	SNP	G	TCGA-DU-7019-01A-11D-2024-08	5534051	29709887	21594679	43	40421											
TST	7263	broad.mit.edu	37	chr22	37407129	37407129	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggggcccggcgaaaccacTcggaccaggagccatcgtac	9	3	15	14	4	0	0	0	0	0	0	2	3	0	2	4	6	3	1	4	6	2	1			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:37407129T>G	ENST00000403892.3	-	2	1567	c.833A>C	c.(832-834)gAg>gCg	p.E278A	TST_ENST00000249042.3_Missense_Mutation_p.E278A	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	278	Rhodanese 2.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GCGAAACCACTCGGACCAGGA	0.637													G	37407129	T	G	37407129	3	3	392	1	0	0	0	0	1	0	0	0	16774	1551	54	5	64	5	TST	22	37407129	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08	7697242	37407129	13897437	44	40422											
EIF3L	51386	broad.mit.edu	37	chr22	38270462	38270462	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctggtcgggcttctccgCctgcactccctgttaggaga	5	10	12	14	2	1	1	0	0	1	1	4	2	2	1	4	3	2	3	4	3	1	2			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chr22:38270462C>T	ENST00000412331.2	+	9	1419	c.837C>T	c.(835-837)cgC>cgT	p.R279R	EIF3L_ENST00000406934.1_Silent_p.R181R|EIF3L_ENST00000381683.6_Silent_p.R231R	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	279						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						GGCTTCTCCGCCTGCACTCCC	0.552													T	38270462	C	T	38270462	2	4	392	1	0	0	0	0	0	0	0	1	5063	726	26	2		2	EIF3L	22	38270462	Silent	SNP	C	TCGA-DU-7019-01A-11D-2024-08	863333	38270462	13034104	45	40423											
MXRA5	25878	broad.mit.edu	37	chrX	3239837	3239837	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatatttttctggtggttgTcatgtaatctaaggaatcat	11	18	8	4	0	4	0	2	0	2	0	4	1	4	1	0	3	0	2	0	3	5	7			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:3239837T>C	ENST00000217939.6	-	5	4043	c.3889A>G	c.(3889-3891)Aca>Gca	p.T1297A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1297						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGGTGGTTGTCATGTAATCT	0.358													C	3239837	T	C	3239837	3	2	392	1	0	0	0	0	1	0	0	0	10079	1667	58	3	4609	3	MXRA5	23	3239837	Missense_Mutation	SNP	T	TCGA-DU-7019-01A-11D-2024-08		3239837	152030723	46	40424											
CNKSR2	22866	broad.mit.edu	37	chrX	21534627	21534627	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggcagttgaaaaatttgGtgaatgcactacgagaggac	13	9	14	5	1	0	3	0	2	0	1	0	5	0	4	0	4	2	3	0	4	4	3			TCGA-DU-7019-01A-11D-2024-08	TCGA-DU-7019-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	16d72485-c192-4735-97fc-e46e71bc0209	f211dabd-dc6e-4168-a894-6a2c1eeb90f8	g.chrX:21534627G>T	ENST00000425654.2	+	9	1315	c.835G>T	c.(835-837)Gtg>Ttg	p.V279L	CNKSR2_ENST00000279451.4_Missense_Mutation_p.V279L|CNKSR2_ENST00000379510.3_Missense_Mutation_p.V279L|CNKSR2_ENST00000543067.1_Intron	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	279	PDZ.				regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						GAAAAATTTGGTGAATGCACT	0.398													T	21534627	G	T	21534627	3	4	392	1	0	0	0	0	1	0	0	0	3638	1261	44	4	869	4	CNKSR2	23	21534627	Missense_Mutation	SNP	G	TCGA-DU-7019-01A-11D-2024-08	18294790	21534627	133735933	47	40425											
SGIP1	84251	broad.mit.edu	37	chr1	67142747	67142747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattaatccaagcatggagtCgccaaagttaacaaggcctt	15	9	8	9	1	0	0	0	0	0	0	2	1	1	1	3	2	2	2	3	2	6	3			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:67142747C>T	ENST00000371037.4	+	13	784	c.707C>T	c.(706-708)tCg>tTg	p.S236L	SGIP1_ENST00000468286.1_3'UTR|SGIP1_ENST00000237247.6_Missense_Mutation_p.S240L|SGIP1_ENST00000371039.1_Missense_Mutation_p.S204L|SGIP1_ENST00000371035.3_Missense_Mutation_p.S193L|SGIP1_ENST00000371036.3_Missense_Mutation_p.S203L	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	236	Pro-rich.				positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AGCATGGAGTCGCCAAAGTTA	0.403													T	67142747	C	T	67142747	3	4	393	1	0	0	0	0	1	0	0	0	14299	893	31	1	757	1	SGIP1	1	67142747	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		67142747	182107874	1	40426											
TMEM206	55248	broad.mit.edu	37	chr1	212553255	212553255	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgcaggaactcctggAaagaagagaagaggaggtaa	16	6	13	6	0	0	3	0	0	0	3	1	7	1	6	2	4	2	2	2	4	5	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr1:212553255A>G	ENST00000261455.4	-	5	757	c.620T>C	c.(619-621)tTc>tCc	p.F207S	TMEM206_ENST00000535273.1_Missense_Mutation_p.F268S	NM_018252.2	NP_060722.2	Q9H813	TM206_HUMAN	transmembrane protein 206	207						integral to membrane				breast(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	17				all cancers(67;0.012)|OV - Ovarian serous cystadenocarcinoma(81;0.0121)|GBM - Glioblastoma multiforme(131;0.0377)|Epithelial(68;0.148)		GAACTCCTGGAAAGAAGAGAA	0.498													G	212553255	A	G	212553255	3	3	393	1	0	0	0	0	1	0	0	0	16231	246	9	3	448	3	TMEM206	1	212553255	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	145410508	212553255	36697366	2	40427											
SFXN5	94097	broad.mit.edu	37	chr2	73227600	73227600	+	Frame_Shift_Del	DEL	T	T	-																															catagttgacacaggcattgTggctctggttcagccactga																										TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:73227600delT	ENST00000272433.2	-	8	558	c.428delA	c.(427-429)cacfs	p.H143fs	SFXN5_ENST00000474528.1_5'UTR|SFXN5_ENST00000410065.1_Frame_Shift_Del_p.H143fs	NM_144579.2	NP_653180.1	Q8TD22	SFXN5_HUMAN	sideroflexin 5	143					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						ACAGGCATTGTGGCTCTGGTT	0.587													-	73227600	T	-	73227600	7	5	393	1	0	1	0	1	0	0	0	0	14291	1696	59	0	622	0	SFXN5	2	73227600	Frame_Shift_Del	DEL	T	TCGA-DU-7290-01A-11D-2024-08		73227600	169971773	3	40428											
TTN	7273	broad.mit.edu	37	chr2	179637874	179637874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatgtcatattttctcccGcgtaaaatgtgtattttcct	9	17	6	9	2	2	1	1	0	1	1	4	1	3	1	2	0	0	2	2	0	4	7			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr2:179637874G>A	ENST00000589042.1	-	33	8041	c.7817C>T	c.(7816-7818)gCg>gTg	p.A2606V	TTN_ENST00000360870.5_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000584485.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A2560V|TTN_ENST00000342992.6_Missense_Mutation_p.A2606V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.A2560V|TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A2560V|TTN_ENST00000591111.1_Missense_Mutation_p.A2606V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2340							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTTTCTCCCGCGTAAAATGT	0.289													A	179637874	G	A	179637874	3	1	393	1	0	0	0	0	1	0	0	0	16837	1087	38	1	103491	1	TTN	2	179637874	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	106410274	179637874	63561499	4	40429											
CELSR3	1951	broad.mit.edu	37	chr3	48698353	48698353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccgttggcgtccttgtccCggtcagtggccgtgacgcgc	3	10	14	14	6	1	1	1	1	0	0	4	1	4	1	4	3	0	1	4	3	0	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr3:48698353C>T	ENST00000544264.1	-	1	1995	c.1715G>A	c.(1714-1716)cGg>cAg	p.R572Q	CELSR3_ENST00000164024.4_Missense_Mutation_p.R572Q			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	572	Cadherin 3.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GTCCTTGTCCCGGTCAGTGGC	0.607													T	48698353	C	T	48698353	3	4	393	1	0	0	0	0	1	0	0	0	3253	652	23	1	8363	1	CELSR3	3	48698353	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		48698353	149324077	5	40430											
OTOP1	133060	broad.mit.edu	37	chr4	4214703	4214703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaggcatcccaggatgacGgtaatgactgcaaacaatgt	14	9	10	8	1	0	2	0	2	0	0	1	3	1	3	1	3	2	3	1	3	4	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr4:4214703G>A	ENST00000296358.4	-	2	456	c.432C>T	c.(430-432)acC>acT	p.T144T		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	144					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CCAGGATGACGGTAATGACTG	0.388													A	4214703	G	A	4214703	2	1	393	1	0	0	0	0	0	0	0	1	11381	1103	39	1		1	OTOP1	4	4214703	Silent	SNP	G	TCGA-DU-7290-01A-11D-2024-08		4214703	186939573	6	40431											
FBXL7	23194	broad.mit.edu	37	chr5	15936897	15936897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctgagcatcgcgcacTgcggccgggtcaccgacgtg	6	6	15	14	6	1	1	1	1	0	0	2	2	1	1	3	3	3	3	3	3	1	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:15936897T>A	ENST00000504595.1	+	4	1559	c.1078T>A	c.(1078-1080)Tgc>Agc	p.C360S	FBXL7_ENST00000329673.7_Missense_Mutation_p.C348S|FBXL7_ENST00000510662.1_Missense_Mutation_p.C313S	NM_001278317.1|NM_012304.3	NP_001265246.1|NP_036436.1	Q9UJT9	FBXL7_HUMAN	F-box and leucine-rich repeat protein 7	360					ubiquitin-dependent protein catabolic process	ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(13)|lung(33)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	60						CATCGCGCACTGCGGCCGGGT	0.677													A	15936897	T	A	15936897	3	1	393	1	0	0	0	0	1	0	0	0	5773	1580	55	5	1092	5	FBXL7	5	15936897	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08		15936897	164978363	7	40432											
DMXL1	1657	broad.mit.edu	37	chr5	118485663	118485663	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcacaatcagtgctagtggaAgcactaccagagacccccag	13	6	9	13	0	2	1	2	0	0	1	2	3	2	2	3	1	3	2	3	1	4	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:118485663A>T	ENST00000311085.8	+	18	4221	c.4141A>T	c.(4141-4143)Agc>Tgc	p.S1381C	DMXL1_ENST00000539542.1_Missense_Mutation_p.S1381C	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1381										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TGCTAGTGGAAGCACTACCAG	0.453													T	118485663	A	T	118485663	3	4	393	1	0	0	0	0	1	0	0	0	4633	72	3	5	4211	5	DMXL1	5	118485663	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	102548766	118485663	62429597	8	40433											
FBN2	2201	broad.mit.edu	37	chr5	127800434	127800434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccttggcaagctccagtgCggatgttggggatgaaaccc	9	8	13	11	1	0	1	0	1	0	0	1	3	1	3	3	4	3	3	3	4	2	2	rs148971572	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr5:127800434C>T	ENST00000508053.1	-	12	1783	c.809G>A	c.(808-810)cGc>cAc	p.R270H	FBN2_ENST00000508989.1_Missense_Mutation_p.R237H|FBN2_ENST00000262464.4_Missense_Mutation_p.R270H			P35556	FBN2_HUMAN	fibrillin 2	270					bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGCTCCAGTGCGGATGTTGGG	0.592													T	127800434	C	T	127800434	3	4	393	1	0	0	0	0	1	0	0	0	5752	768	27	1	8169	1	FBN2	5	127800434	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	9314771	127800434	53114826	9	40434											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124693	26124693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgacaacaagaagactcGcatcatcccgcgccacttgc	11	6	8	16	5	1	2	1	0	0	2	4	3	2	2	2	0	2	1	2	0	3	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:26124693G>A	ENST00000602637.1	+	1	263	c.233G>A	c.(232-234)cGc>cAc	p.R78H	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.R78H			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	78					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGAAGACTCGCATCATCCCG	0.652													A	26124693	G	A	26124693	3	1	393	1	0	0	0	0	1	0	0	0	7185	1087	38	1	235	1	HIST1H2AC	6	26124693	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08		26124693	144990374	10	40435											
OR2B3	442184	broad.mit.edu	37	chr6	29054524	29054524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcctggtgaccacagcGtggcatgttaagagtcaagg	10	9	12	10	1	1	2	1	1	0	1	2	2	2	2	2	3	1	2	2	3	2	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:29054524G>A	ENST00000377173.2	-	1	566	c.502C>T	c.(502-504)Cgc>Tgc	p.R168C		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGACCACAGCGTGGCATGTTA	0.488													A	29054524	G	A	29054524	3	1	393	1	0	0	0	0	1	0	0	0	11066	1145	40	1	443	1	OR2B3	6	29054524	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	2929831	29054524	142060543	11	40436											
NOTCH4	4855	broad.mit.edu	37	chr6	32180628	32180628	+	Frame_Shift_Del	DEL	G	G	-																															ctgcctccggtgtagccagtGgggcagaggcagcggggacc																										TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:32180628delG	ENST00000375023.3	-	16	2637	c.2499delC	c.(2497-2499)cccfs	p.P833fs	NOTCH4_ENST00000465528.1_Intron	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	833	EGF-like 21.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						TGTAGCCAGTGGGGCAGAGGC	0.622													-	32180628	G	-	32180628	7	5	393	1	0	1	0	1	0	0	0	0	10627	1335	47	0	3572	0	NOTCH4	6	32180628	Frame_Shift_Del	DEL	G	TCGA-DU-7290-01A-11D-2024-08	3126104	32180628	138934439	12	40437											
SYNE1	23345	broad.mit.edu	37	chr6	152783987	152783987	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaacaacacagtctgtgtaTtccttcttcattctgtccat	9	16	5	11	0	4	0	1	0	3	0	6	0	6	0	2	0	2	2	2	0	3	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:152783987T>C	ENST00000367255.5	-	20	2737	c.2136A>G	c.(2134-2136)gaA>gaG	p.E712E	SYNE1_ENST00000466159.2_Silent_p.E712E|SYNE1_ENST00000495090.2_Silent_p.E279E|SYNE1_ENST00000413186.2_Silent_p.E712E|SYNE1_ENST00000341594.5_Silent_p.E719E|SYNE1_ENST00000448038.1_Silent_p.E719E|SYNE1_ENST00000265368.4_Silent_p.E712E|SYNE1_ENST00000423061.1_Silent_p.E719E|SYNE1_ENST00000367253.4_Silent_p.E712E|SYNE1_ENST00000367248.3_Silent_p.E702E	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	712					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)		AGTCTGTGTATTCCTTCTTCA	0.433										HNSCC(10;0.0054)			C	152783987	T	C	152783987	2	2	393	1	0	0	0	0	0	0	0	1	15542	1490	52	3		3	SYNE1	6	152783987	Silent	SNP	T	TCGA-DU-7290-01A-11D-2024-08	120603359	152783987	18331080	13	40438											
ARID1B	57492	broad.mit.edu	37	chr6	157454205	157454205	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctcagatggctcagtaTggacctcaacagacaggacc	13	6	9	13	0	3	2	3	0	0	2	3	4	3	4	3	3	2	2	3	3	3	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr6:157454205T>A	ENST00000346085.5	+	8	2416	c.2415T>A	c.(2413-2415)taT>taA	p.Y805*	ARID1B_ENST00000275248.4_Nonsense_Mutation_p.Y734*|ARID1B_ENST00000367148.1_Nonsense_Mutation_p.Y792*|ARID1B_ENST00000350026.5_Nonsense_Mutation_p.Y792*	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	792					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TGGCTCAGTATGGACCTCAAC	0.463													A	157454205	T	A	157454205	4	1	393	1	0	0	0	0	0	1	0	0	917	1471	51	5	2445	5	ARID1B	6	157454205	Nonsense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	4670218	157454205	13660862	14	40439											
COBL	23242	broad.mit.edu	37	chr7	51287614	51287614	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcctttccaggaggTgggggagcacgagccttcat	7	8	16	10	1	1	0	1	0	0	0	2	3	2	2	3	5	3	2	3	5	0	2	rs145775268	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:51287614T>G	ENST00000395542.2	-	2	253	c.69A>C	c.(67-69)ccA>ccC	p.P23P	COBL_ENST00000395540.2_Silent_p.P23P|COBL_ENST00000441453.1_Silent_p.P23P|COBL_ENST00000265136.7_Silent_p.P23P			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	23	Poly-Pro.									NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTCCAGGAGGTGGGGGAGCAC	0.552													G	51287614	T	G	51287614	2	3	393	1	0	0	0	0	0	0	0	1	3684	1683	59	5		5	COBL	7	51287614	Silent	SNP	T	TCGA-DU-7290-01A-11D-2024-08		51287614	107851049	15	40440											
PTPRZ1	5803	broad.mit.edu	37	chr7	121684517	121684517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatacactggttgaggccatActtagtaaagaaactgaggt	14	10	11	6	0	0	3	0	2	0	1	0	4	0	3	1	3	3	2	1	3	6	5			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr7:121684517A>G	ENST00000393386.2	+	23	6390	c.5979A>G	c.(5977-5979)atA>atG	p.I1993M	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.I1126M	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1993					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TTGAGGCCATACTTAGTAAAG	0.393													G	121684517	A	G	121684517	3	3	393	1	0	0	0	0	1	0	0	0	12902	381	14	3	6069	3	PTPRZ1	7	121684517	Missense_Mutation	SNP	A	TCGA-DU-7290-01A-11D-2024-08	70396903	121684517	37454146	16	40441											
GDF6	392255	broad.mit.edu	37	chr8	97157718	97157718	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggacacatcaaacaaataCttctgtctccggagaggagt	14	9	9	9	1	3	1	1	0	2	1	4	4	3	3	1	3	2	0	1	3	3	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr8:97157718C>G	ENST00000287020.5	-	2	540	c.441G>C	c.(439-441)aaG>aaC	p.K147N		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	147					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					CAAACAAATACTTCTGTCTCC	0.562													G	97157718	C	G	97157718	3	3	393	1	0	0	0	0	1	0	0	0	6373	564	20	4	930	4	GDF6	8	97157718	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		97157718	49206304	17	40442											
GLIS3	169792	broad.mit.edu	37	chr9	4118007	4118007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatgccgtccatctcccCgtcgtcgtccagggtggcct	3	9	11	18	5	1	0	0	0	1	0	6	1	3	0	7	2	1	0	7	2	0	0			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:4118007C>T	ENST00000324333.10	-	3	1199	c.1006G>A	c.(1006-1008)Ggg>Agg	p.G336R	GLIS3_ENST00000381971.3_Missense_Mutation_p.G491R	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	336					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		TCCATCTCCCCGTCGTCGTCC	0.692													T	4118007	C	T	4118007	3	4	393	1	0	0	0	0	1	0	0	0	6503	652	23	1	1353	1	GLIS3	9	4118007	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		4118007	137095424	18	40443											
PGM5	5239	broad.mit.edu	37	chr9	71098810	71098810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggggttggatcccaagaCgacatattatatcatgaggg	12	10	13	6	1	1	3	1	2	0	1	2	5	2	4	1	4	0	1	1	4	4	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:71098810C>T	ENST00000396396.1	+	9	1554	c.1325C>T	c.(1324-1326)aCg>aTg	p.T442M		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	442					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						GATCCCAAGACGACATATTAT	0.512													T	71098810	C	T	71098810	3	4	393	1	0	0	0	0	1	0	0	0	11878	536	19	1	1359	1	PGM5	9	71098810	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	66980803	71098810	70114621	19	40444											
OR1L8	138881	broad.mit.edu	37	chr9	125330525	125330525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcagcatcttggggacaaCgcttgttgtaaagcaaatat	13	11	9	8	1	2	0	1	0	1	0	2	1	2	1	0	2	3	5	0	2	5	5			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr9:125330525C>T	ENST00000304865.2	-	1	313	c.232G>A	c.(232-234)Gtt>Att	p.V78I		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	78					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TTGGGGACAACGCTTGTTGTA	0.453													T	125330525	C	T	125330525	3	4	393	1	0	0	0	0	1	0	0	0	11043	536	19	1	701	1	OR1L8	9	125330525	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	54231715	125330525	15882906	20	40445											
RET	5979	broad.mit.edu	37	chr10	43597996	43597996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattcgggagaaccgacccCcaggcaccttccaccagttc	9	6	9	17	2	0	1	0	0	0	1	3	3	1	1	6	2	1	3	6	2	1	3			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:43597996C>T	ENST00000355710.3	+	3	776	c.544C>T	c.(544-546)Cca>Tca	p.P182S	RET_ENST00000340058.5_Missense_Mutation_p.P182S	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	182	Cadherin.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	GAACCGACCCCCAGGCACCTT	0.627		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				T	43597996	C	T	43597996	3	4	393	1	0	0	0	0	1	0	0	0	13323	623	22	2	554	2	RET	10	43597996	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		43597996	91936751	21	40446											
PTEN	5728	broad.mit.edu	37	chr10	89692830	89692830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacttatcaaacccttttGtgaagatcttgaccaatggc	13	12	7	9	0	2	4	1	2	1	2	2	4	2	4	2	1	2	0	2	1	5	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:89692830G>A	ENST00000371953.3	+	5	1671	c.314G>A	c.(313-315)tGt>tAt	p.C105Y		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	105	Phosphatase tensin-type.		C -> F (in BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4).|C -> Y (in BZS).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.C105F(6)|p.?(5)|p.R55fs*1(5)|p.C105S(3)|p.Y27fs*1(2)|p.C105Y(2)|p.C105fs*1(1)|p.F56fs*2(1)|p.P103fs*3(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAACCCTTTTGTGAAGATCTT	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692830	G	A	89692830	3	1	393	1	0	0	0	0	1	0	0	0	12823	1377	48	2	332	2	PTEN	10	89692830	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	46094834	89692830	45841917	22	40447											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396278	+	RNA	INS	-	-	T																															tgactaacagacaaattatgINSgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													T	118396278	-	T	118396277	6	5	393	0	1	1	1	0	0	0	0	0	12228	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-DU-7290-01A-11D-2024-08	28703447	118396277	17138470	23	40448											
EFEMP2	30008	broad.mit.edu	37	chr11	65635447	65635447	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcgggcacgctccgctccGaggtgatggtcatgtagcgg	6	7	16	12	5	1	1	1	1	0	0	3	2	3	1	2	4	2	4	2	4	1	1	rs142826827		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:65635447G>A	ENST00000307998.6	-	10	1285	c.1055C>T	c.(1054-1056)tCg>tTg	p.S352L	EFEMP2_ENST00000528176.1_Missense_Mutation_p.S352L	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	352					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GCTCCGCTCCGAGGTGATGGT	0.627													A	65635447	G	A	65635447	3	1	393	1	0	0	0	0	1	0	0	0	4981	1059	37	1	284	1	EFEMP2	11	65635447	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08		65635447	69371069	24	40449											
AMICA1	120425	broad.mit.edu	37	chr11	118074285	118074285	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgtcattgcggaaaatgtcCcccaccaggttcacacgatt	10	9	8	14	3	2	0	2	0	0	0	3	2	3	1	4	2	1	1	4	2	2	3			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr11:118074285C>G	ENST00000292067.7	-	5	1041	c.600G>C	c.(598-600)ggG>ggC	p.G200G	AMICA1_ENST00000356289.5_Silent_p.G210G|AMICA1_ENST00000533261.1_Silent_p.G199G|AMICA1_ENST00000526620.1_Silent_p.G171G	NM_153206.2	NP_694938.2	Q86YT9	JAML1_HUMAN	adhesion molecule, interacts with CXADR antigen 1	210	Ig-like V-type 2.				blood coagulation|cell adhesion|leukocyte migration|regulation of immune response	cell junction|integral to membrane				central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|stomach(2)	20	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		GGAAAATGTCCCCCACCAGGT	0.507													G	118074285	C	G	118074285	2	3	393	1	0	0	0	0	0	0	0	1	574	610	22	4		4	AMICA1	11	118074285	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08	52438838	118074285	16932231	25	40450											
STAB2	55576	broad.mit.edu	37	chr12	103984727	103984727	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aattaggaccgagtgccgatCctgcgctctcaaccttggag	9	9	11	12	3	1	0	1	0	1	0	3	4	2	2	4	2	3	1	4	2	3	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr12:103984727C>T	ENST00000388887.2	+	2	338	c.134C>T	c.(133-135)tCc>tTc	p.S45F		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	45					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GAGTGCCGATCCTGCGCTCTC	0.423													T	103984727	C	T	103984727	3	4	393	1	0	0	0	0	1	0	0	0	15334	855	30	2	140	2	STAB2	12	103984727	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		103984727	29867168	26	40451											
RB1	5925	broad.mit.edu	37	chr13	48919319	48919320	+	Frame_Shift_Del	DEL	TT	TT	-																															atgatgtattgtttgcactcTtcagcaaattggaaaggtaa																										TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:48919319_48919320delTT	ENST00000267163.4	+	4	622_623	c.484_485delTT	c.(484-486)ttcfs	p.F162fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	162					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(6)|p.F162fs*13(1)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTTTGCACTCTTCAGCAAATTG	0.287		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48919320	TT	-	48919319	7	5	393	1	0	1	0	1	0	0	0	0	13186	1609	56	0	498	0	RB1	13	48919319	Frame_Shift_Del	DEL	TT	TCGA-DU-7290-01A-11D-2024-08		48919319	66250559	27	40452											
OLFM4	10562	broad.mit.edu	37	chr13	53603144	53603144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgggctccagctccagccGcagcttaggcagcggaggtt	6	7	15	13	3	0	0	0	0	0	0	3	1	2	1	3	4	4	6	3	4	1	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr13:53603144G>A	ENST00000219022.2	+	1	251	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	58	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		agctccagccgcagcTTAGGC	0.582													A	53603144	G	A	53603144	3	1	393	1	0	0	0	0	1	0	0	0	10931	1087	38	1	175	1	OLFM4	13	53603144	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	4683825	53603144	61566734	28	40453											
PRPF8	10594	broad.mit.edu	37	chr17	1585131	1585131	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcctgctgtccctcaaCggctggtggtcatagaacca	8	10	9	14	1	2	1	2	0	0	1	4	1	4	1	3	3	3	2	3	3	3	2	rs143150486		TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:1585131C>T	ENST00000572621.1	-	4	901	c.636G>A	c.(634-636)ccG>ccA	p.P212P	PRPF8_ENST00000304992.6_Silent_p.P212P			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	212						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGTCCCTCAACGGCTGGTGGT	0.542													T	1585131	C	T	1585131	2	4	393	1	0	0	0	0	0	0	0	1	12661	523	19	1		1	PRPF8	17	1585131	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		1585131	79610079	29	40454											
EFNB3	1949	broad.mit.edu	37	chr17	7611424	7611424	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggggtgctcagggccggCgctgtgaggcaccccctgcc	4	6	17	14	2	1	1	1	1	0	0	1	1	1	1	4	5	2	3	4	5	1	1			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:7611424C>T	ENST00000226091.2	+	2	668	c.271C>T	c.(271-273)Cgc>Tgc	p.R91C		NM_001406.3	NP_001397.1	Q15768	EFNB3_HUMAN	ephrin-B3	91					cell-cell signaling|interspecies interaction between organisms	integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity	p.R91C(1)		large_intestine(3)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	8		all_cancers(10;1.14e-06)|Prostate(122;0.081)				TCAGGGCCGGCGCTGTGAGGC	0.602													T	7611424	C	T	7611424	3	4	393	1	0	0	0	0	1	0	0	0	4996	768	27	1	277	1	EFNB3	17	7611424	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	6026293	7611424	73583786	30	40455											
MYH13	8735	broad.mit.edu	37	chr17	10214497	10214497	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttttccgcttcctgaaGattcttgccagtttctgcaa	6	16	8	11	1	3	2	0	1	3	1	5	2	5	2	3	1	2	3	3	1	2	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:10214497G>T	ENST00000418404.3	-	32	4742	c.4579C>A	c.(4579-4581)Ctt>Att	p.L1527I	MYH13_ENST00000252172.4_Missense_Mutation_p.L1527I|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1527					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCTTCCTGAAGATTCTTGCCA	0.443													T	10214497	G	T	10214497	3	4	393	1	0	0	0	0	1	0	0	0	10108	942	33	4	1273	4	MYH13	17	10214497	Missense_Mutation	SNP	G	TCGA-DU-7290-01A-11D-2024-08	2603073	10214497	70980713	31	40456											
PRKCA	5578	broad.mit.edu	37	chr17	64785022	64785022	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggagagggacgtgagagaGcatgccttcttccggaggat	9	7	18	7	2	1	3	0	1	1	2	2	8	2	6	2	5	2	1	2	5	0	2	rs2228945	byFrequency	TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr17:64785022G>A	ENST00000413366.3	+	16	1805	c.1779G>A	c.(1777-1779)gaG>gaA	p.E593E		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	593	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding	p.E593E(1)		breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	ACGTGAGAGAGCATGCCTTCT	0.537													A	64785022	G	A	64785022	2	1	393	1	0	0	0	0	0	0	0	1	12593	962	34	2		2	PRKCA	17	64785022	Silent	SNP	G	TCGA-DU-7290-01A-11D-2024-08	54570525	64785022	16410188	32	40457											
ZNF519	162655	broad.mit.edu	37	chr18	14106371	14106371	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaatcttgtatgccttgCtctggtaaaatgccttggtt	9	16	9	7	0	2	1	0	1	2	0	2	1	2	1	2	2	3	4	2	2	5	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr18:14106371C>T	ENST00000590202.1	-	3	320	c.168G>A	c.(166-168)gaG>gaA	p.E56E	ZNF519_ENST00000589498.1_Intron|ZNF519_ENST00000589203.1_Intron	NM_145287.3	NP_660330.2	Q8TB69	ZN519_HUMAN	zinc finger protein 519	56	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	18						GTATGCCTTGCTCTGGTAAAA	0.333													T	14106371	C	T	14106371	2	4	393	1	0	0	0	0	0	0	0	1	18065	796	28	2		2	ZNF519	18	14106371	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		14106371	63970877	33	40458											
ICAM5	7087	broad.mit.edu	37	chr19	10401990	10401990	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcgcgcggcgcacactaCaggcgcgtgggctcattcgc	5	6	15	15	7	1	0	1	0	0	0	2	0	1	0	0	3	2	3	0	3	1	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:10401990C>G	ENST00000221980.4	+	2	388	c.325C>G	c.(325-327)Cag>Gag	p.Q109E	ICAM5_ENST00000586004.1_3'UTR	NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	109	Ig-like C2-type 1.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCGCACACTACAGGCGCGTGG	0.682													G	10401990	C	G	10401990	3	3	393	1	0	0	0	0	1	0	0	0	7541	479	17	4	331	4	ICAM5	19	10401990	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08		10401990	48726993	34	40459											
ZNF429	353088	broad.mit.edu	37	chr19	21720782	21720782	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactcaacataagaaaattCataggatgggtgtggtggct	13	12	11	5	0	2	1	2	0	0	1	2	2	2	2	0	4	2	1	0	4	6	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:21720782C>A	ENST00000358491.4	+	4	2135	c.1927C>A	c.(1927-1929)Cat>Aat	p.H643N	ZNF429_ENST00000597078.1_Intron	NM_001001415.2	NP_001001415.2	Q86V71	ZN429_HUMAN	zinc finger protein 429	643					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(13)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	34						TAAGAAAATTCATAGGATggg	0.458													A	21720782	C	A	21720782	3	1	393	1	0	0	0	0	1	0	0	0	18003	826	29	4	1941	4	ZNF429	19	21720782	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	11318792	21720782	37408201	35	40460											
PSG9	5678	broad.mit.edu	37	chr19	43766011	43766011	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaacagaagatactcaCggaggagattcagggtgact	15	6	14	6	1	2	5	2	1	0	4	2	8	2	7	0	4	2	0	0	4	3	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chr19:43766011C>T	ENST00000244293.7	-	3	776		c.e3+1		PSG9_ENST00000596730.1_Intron|PSG9_ENST00000418820.2_Intron|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000270077.3_Splice_Site|PSG9_ENST00000593948.1_Splice_Site|PSG9_ENST00000443718.3_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9						female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				AAGATACTCACGGAGGAGATT	0.522													T	43766011	C	T	43766011	5	4	393	1	0	0	0	0	0	0	1	0	12747	550	19	1	586	1	PSG9	19	43766011	Splice_Site	SNP	C	TCGA-DU-7290-01A-11D-2024-08	22045229	43766011	15362972	36	40461											
MXRA5	25878	broad.mit.edu	37	chrX	3229518	3229518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgtgttcaatcttggcCggtttcatcaccacatccac	7	14	6	14	1	4	0	3	0	1	0	6	0	6	0	4	2	0	2	4	2	1	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:3229518C>T	ENST00000217939.6	-	7	6880	c.6726G>A	c.(6724-6726)ccG>ccA	p.P2242P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2242	Ig-like C2-type 7.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CAATCTTGGCCGGTTTCATCA	0.517													T	3229518	C	T	3229518	2	4	393	1	0	0	0	0	0	0	0	1	10079	639	23	1		1	MXRA5	23	3229518	Silent	SNP	C	TCGA-DU-7290-01A-11D-2024-08		3229518	152041042	37	40462											
MED12	9968	broad.mit.edu	37	chrX	70351408	70351408	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctatcacagaacttggaCcagtggaccatgcgccagtc	10	8	9	14	1	2	1	1	0	1	1	3	3	2	3	4	2	2	0	4	2	2	2			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:70351408C>A	ENST00000333646.6	+	29	4255	c.4056C>A	c.(4054-4056)gaC>gaA	p.D1352E	MED12_ENST00000374080.3_Missense_Mutation_p.D1352E|MED12_ENST00000374102.1_Missense_Mutation_p.D1352E	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1352					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGAACTTGGACCAGTGGACCA	0.542			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70351408	C	A	70351408	3	1	393	1	0	0	0	0	1	0	0	0	9503	506	18	4	4170	4	MED12	23	70351408	Missense_Mutation	SNP	C	TCGA-DU-7290-01A-11D-2024-08	67121890	70351408	84919152	38	40463											
IL1RAPL2	26280	broad.mit.edu	37	chrX	105011344	105011344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggagaactccagcctaTaccctctattgccatgacca	10	12	6	13	0	1	2	0	1	1	1	2	3	2	2	5	1	4	0	5	1	4	6			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:105011344T>G	ENST00000372582.1	+	11	2507	c.1751T>G	c.(1750-1752)aTa>aGa	p.I584R	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.I584R	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	584					central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTCCAGCCTATACCCTCTATT	0.463													G	105011344	T	G	105011344	3	3	393	1	0	0	0	0	1	0	0	0	7720	1406	49	5	1789	5	IL1RAPL2	23	105011344	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	34659936	105011344	50259216	39	40464											
ARHGEF6	9459	broad.mit.edu	37	chrX	135862897	135862897	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttccacagagccaggcaTgagtctgttgatcagtttgc	8	13	10	10	0	2	3	1	2	1	1	3	3	3	3	2	1	2	3	2	1	0	4			TCGA-DU-7290-01A-11D-2024-08	TCGA-DU-7290-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	78e1afce-55f4-4924-9fa3-4e5227c2818c	a58fe3f9-3bcd-4481-9f8d-4fcf99e84d62	g.chrX:135862897T>A	ENST00000250617.6	-	1	1350	c.145A>T	c.(145-147)Atg>Ttg	p.M49L		NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	49	CH.				apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					GAGCCAGGCATGAGTCTGTTG	0.418													A	135862897	T	A	135862897	3	1	393	1	0	0	0	0	1	0	0	0	913	1464	51	5	2273	5	ARHGEF6	23	135862897	Missense_Mutation	SNP	T	TCGA-DU-7290-01A-11D-2024-08	30851553	135862897	19407663	40	40465											
ARHGEF16	27237	broad.mit.edu	37	chr1	3394457	3394457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcccactgatctctGcctcccggtggctgctgaag	5	10	10	16	1	1	2	0	2	1	0	5	2	4	2	4	2	2	2	4	2	1	0			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:3394457G>A	ENST00000378378.4	+	11	1897	c.1492G>A	c.(1492-1494)Gcc>Acc	p.A498T	ARHGEF16_ENST00000378371.2_Missense_Mutation_p.A210T|ARHGEF16_ENST00000413250.2_Missense_Mutation_p.A202T|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.A210T	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	498					activation of Cdc42 GTPase activity|activation of Rac GTPase activity|apoptosis|cell chemotaxis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of establishment of protein localization in plasma membrane|small GTPase mediated signal transduction	cytosol	PDZ domain binding|receptor tyrosine kinase binding|Rho GTPase binding|Rho guanyl-nucleotide exchange factor activity			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		ACTGATCTCTGCCTCCCGGTG	0.622													A	3394457	G	A	3394457	3	1	394	1	0	0	0	0	1	0	0	0	902	1319	46	2	1530	2	ARHGEF16	1	3394457	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		3394457	245856164	1	40466											
ADCY10	55811	broad.mit.edu	37	chr1	167791265	167791265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccacacattgttaccagAtagctacagaggaataaagt	16	9	8	8	0	0	2	0	0	0	2	0	3	0	3	2	1	4	2	2	1	6	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:167791265A>T	ENST00000367848.1	-	30	4504	c.4007T>A	c.(4006-4008)aTc>aAc	p.I1336N	ADCY10_ENST00000367851.4_Missense_Mutation_p.I1428N|ADCY10_ENST00000545172.1_Missense_Mutation_p.I1275N			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1428					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						TTGTTACCAGATAGCTACAGA	0.353													T	167791265	A	T	167791265	3	4	394	1	0	0	0	0	1	0	0	0	293	333	12	5	565	5	ADCY10	1	167791265	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08	164396808	167791265	81459356	2	40467											
TNNI1	7135	broad.mit.edu	37	chr1	201384346	201384346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcccccagcctcaccttcaGcaagagtttgcgggaggcag	9	6	12	14	1	2	1	2	0	0	1	2	2	2	2	4	2	4	3	4	2	1	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:201384346G>A	ENST00000361379.4	-	4	144	c.52C>T	c.(52-54)Ctg>Ttg	p.L18L	TNNI1_ENST00000336092.4_Silent_p.L18L|TNNI1_ENST00000367312.1_Silent_p.L18L|TNNI1_ENST00000555948.1_Silent_p.L18L	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	18	Involved in binding TNC.				muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCACCTTCAGCAAGAGTTTG	0.582													A	201384346	G	A	201384346	2	1	394	1	0	0	0	0	0	0	0	1	16426	962	34	2		2	TNNI1	1	201384346	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	33593081	201384346	47866275	3	40468											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr1:204135375_204135377delAGC	ENST00000367195.2	-	1	88_90	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000272190.8_In_Frame_Del_p.15_16LL>L			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													-	204135377	AGC	-	204135375	7	5	394	1	0	1	0	1	0	0	0	0	13312	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-DU-7292-01A-11D-2024-08	2751029	204135375	45115246	4	40469											
HGD	3081	broad.mit.edu	37	chr3	120360508	120360508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtagggtgtataattcccGtgccaggccacaacattgaa	11	11	10	9	1	0	1	0	1	0	0	1	1	1	1	3	2	2	2	3	2	5	6			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr3:120360508G>A	ENST00000283871.5	-	11	1266	c.807C>T	c.(805-807)caC>caT	p.H269H		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	269					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		TATAATTCCCGTGCCAGGCCA	0.438													A	120360508	G	A	120360508	2	1	394	1	0	0	0	0	0	0	0	1	7139	1136	40	1		1	HGD	3	120360508	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		120360508	77661922	5	40470											
ENAM	10117	broad.mit.edu	37	chr4	71509397	71509397	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctactacgttaataatgccGctggaccagaagaaagcact	14	8	9	10	2	0	2	0	0	0	2	0	3	0	3	2	1	4	4	2	1	6	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:71509397G>T	ENST00000396073.3	+	9	2535	c.2254G>T	c.(2254-2256)Gct>Tct	p.A752S	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	752					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel	p.A752T(1)		haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			TAATAATGCCGCTGGACCAGA	0.453													T	71509397	G	T	71509397	3	4	394	1	0	0	0	0	1	0	0	0	5153	1087	38	4	2284	4	ENAM	4	71509397	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		71509397	119644879	6	40471											
ADAMTS3	9508	broad.mit.edu	37	chr4	73434466	73434466	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cggctgctatcaaccaaagtGacaggagaaccatcacgagt	14	6	10	11	2	2	2	2	1	0	1	2	4	2	2	2	2	3	2	2	2	4	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:73434466G>C	ENST00000286657.4	-	1	50	c.14C>G	c.(13-15)tCa>tGa	p.S5*		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	5					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAACCAAAGTGACAGGAGAAC	0.448													C	73434466	G	C	73434466	4	2	394	1	0	0	0	0	0	1	0	0	267	1294	45	4	3691	4	ADAMTS3	4	73434466	Nonsense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	1925069	73434466	117719810	7	40472											
CXCL9	4283	broad.mit.edu	37	chr4	76927403	76927403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtgctgatgcaggaacagCgaccctttctcactactggg	8	10	12	11	1	1	1	1	1	1	0	2	3	1	2	1	3	5	2	1	3	2	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:76927403C>T	ENST00000264888.5	-	2	127	c.89G>A	c.(88-90)cGc>cAc	p.R30H		NM_002416.1	NP_002407.1	Q07325	CXCL9_HUMAN	chemokine (C-X-C motif) ligand 9	30					cell-cell signaling|cellular defense response|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response	extracellular space	chemokine activity			large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(1)	11			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			GCAGGAACAGCGACCCTTTCT	0.433													T	76927403	C	T	76927403	3	4	394	1	0	0	0	0	1	0	0	0	4122	768	27	1	300	1	CXCL9	4	76927403	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	3492937	76927403	114226873	8	40473											
SEC24D	9871	broad.mit.edu	37	chr4	119736623	119736623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccctgctgcggaggatatCcagcacccaaggtctggcct	8	8	11	14	1	1	0	0	0	1	0	2	2	2	2	4	4	4	2	4	4	3	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:119736623C>A	ENST00000379735.5	-	5	927	c.656G>T	c.(655-657)gGa>gTa	p.G219V	SEC24D_ENST00000419654.2_5'UTR|SEC24D_ENST00000280551.6_Missense_Mutation_p.G219V	NM_014822.2	NP_055637.2	O94855	SC24D_HUMAN	SEC24 family member D	219	Pro-rich.				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	zinc ion binding	p.G219V(1)		breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37						CGGAGGATATCCAGCACCCAA	0.557													A	119736623	C	A	119736623	3	1	394	1	0	0	0	0	1	0	0	0	14090	855	30	4	2518	4	SEC24D	4	119736623	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	42809220	119736623	71417653	9	40474											
DCHS2	54798	broad.mit.edu	37	chr4	155254333	155254333	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taccggatgagtccgttccgCccactgtctctgtcttccgc	4	12	9	16	4	2	1	0	1	2	0	6	2	5	2	5	1	1	1	5	1	1	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155254333C>A	ENST00000357232.4	-	9	1529	c.1530G>T	c.(1528-1530)ggG>ggT	p.G510G	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Silent_p.G1009G	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GTCCGTTCCGCCCACTGTCTC	0.632													A	155254333	C	A	155254333	2	1	394	1	0	0	0	0	0	0	0	1	4322	726	26	4		4	DCHS2	4	155254333	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	35517710	155254333	35899943	10	40475											
DCHS2	54798	broad.mit.edu	37	chr4	155287390	155287390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaatggtaaaaagggaCgacacgtttcctggaataag	15	8	12	6	2	1	0	1	0	0	0	2	4	2	2	1	3	0	2	1	3	6	3	rs78251264	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													T	155287390	C	T	155287390	2	4	394	1	0	0	0	0	0	0	0	1	4322	523	19	1		1	DCHS2	4	155287390	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	33057	155287390	35866886	11	40476											
CLCN3	1182	broad.mit.edu	37	chr4	170601232	170601232	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatgacaaatggaggcagCattaacagttctacacattt	16	10	7	8	0	1	1	0	1	1	0	1	2	1	2	0	2	3	3	0	2	4	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr4:170601232C>T	ENST00000513761.1	+	3	751	c.192C>T	c.(190-192)agC>agT	p.S64S	CLCN3_ENST00000504131.2_Silent_p.S47S|CLCN3_ENST00000347613.4_Silent_p.S64S|CLCN3_ENST00000360642.3_Silent_p.S64S	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	64					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		ATGGAGGCAGCATTAACAGTT	0.368													T	170601232	C	T	170601232	2	4	394	1	0	0	0	0	0	0	0	1	3495	709	25	2		2	CLCN3	4	170601232	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	15313842	170601232	20553044	12	40477											
MTRR	4552	broad.mit.edu	37	chr5	7875377	7875377	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgggttctctaggtctcgGtgattcagaatacacctact	8	15	9	9	1	3	2	1	1	2	1	5	2	3	2	1	3	2	1	1	3	4	6			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:7875377G>A	ENST00000264668.2	+	4	401	c.371G>A	c.(370-372)gGt>gAt	p.G124D	MTRR_ENST00000341013.6_Missense_Mutation_p.V46M|MTRR_ENST00000440940.2_Missense_Mutation_p.G97D|MTRR_ENST00000502509.1_3'UTR	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	124	Flavodoxin-like.				methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	CTAGGTCTCGGTGATTCAGAA	0.348													A	7875377	G	A	7875377	3	1	394	1	0	0	0	0	1	0	0	0	10037	1261	44	2	385	2	MTRR	5	7875377	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		7875377	173039883	13	40478											
FYB	2533	broad.mit.edu	37	chr5	39202453	39202453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgggagttctcggtacttaGgggcggcttctggccaaagg	7	10	16	8	2	2	0	0	0	2	0	3	1	2	1	1	7	1	3	1	7	3	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:39202453G>A	ENST00000351578.6	-	2	800	c.610C>T	c.(610-612)Cta>Tta	p.L204L	FYB_ENST00000540520.1_Silent_p.L214L|FYB_ENST00000512982.1_Silent_p.L204L|FYB_ENST00000515010.1_Silent_p.L204L|FYB_ENST00000505428.1_Silent_p.L204L	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	204					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TCGGTACTTAGGGGCGGCTTC	0.532													A	39202453	G	A	39202453	2	1	394	1	0	0	0	0	0	0	0	1	6176	991	35	2		2	FYB	5	39202453	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	31327076	39202453	141712807	14	40479											
DDX4	54514	broad.mit.edu	37	chr5	55063741	55063741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcgaagataatccaacaCggaacagagggttttccaag	15	7	10	9	2	0	2	0	0	0	2	2	4	2	3	2	2	3	1	2	2	5	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:55063741C>T	ENST00000505374.1	+	7	459	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	DDX4_ENST00000514278.2_Intron|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000353507.5_Missense_Mutation_p.R123W|DDX4_ENST00000354991.5_Missense_Mutation_p.R123W|DDX4_ENST00000511853.1_Missense_Mutation_p.R24W|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	123	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				TAATCCAACACGGAACAGAGG	0.333													T	55063741	C	T	55063741	3	4	394	1	0	0	0	0	1	0	0	0	4394	527	19	1	430	1	DDX4	5	55063741	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	15861288	55063741	125851519	15	40480											
PCDHA5	56143	broad.mit.edu	37	chr5	140202819	140202819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggacgcgcaggagaacGccctggtgtcctactcgctg	7	6	14	14	6	0	1	0	0	0	1	2	3	1	2	2	3	2	2	2	3	2	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140202819G>A	ENST00000529859.1	+	1	1459	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Missense_Mutation_p.A487T|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.A487T	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGAGAACGCCCTGGTGTC	0.662													A	140202819	G	A	140202819	3	1	394	1	0	0	0	0	1	0	0	0	11603	1087	38	1	1461	1	PCDHA5	5	140202819	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	85139078	140202819	40712441	16	40481											
PCDHB4	56131	broad.mit.edu	37	chr5	140503168	140503168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcgttcgagttccgcGtgggcgcctcagaccgcggt	4	8	16	13	7	1	1	1	0	0	1	3	2	2	1	3	3	1	3	3	3	0	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr5:140503168G>A	ENST00000194152.1	+	1	1588	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		530	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGAGTTCCGCGTGGGCGCCTC	0.672													A	140503168	G	A	140503168	3	1	394	1	0	0	0	0	1	0	0	0	11620	1145	40	1	1590	1	PCDHB4	5	140503168	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	300349	140503168	40412092	17	40482											
GRM4	2914	broad.mit.edu	37	chr6	33996019	33996019	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctttgaggctgcgcttgCgcttgggcacgttctgctcc	2	12	14	13	4	1	1	0	1	1	0	2	1	2	1	1	3	3	7	1	3	0	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr6:33996019C>T	ENST00000538487.2	-	10	3010	c.2567G>A	c.(2566-2568)cGc>cAc	p.R856H	GRM4_ENST00000374177.3_Missense_Mutation_p.R740H|GRM4_ENST00000455714.2_Missense_Mutation_p.R716H|GRM4_ENST00000609222.1_Missense_Mutation_p.R723H|GRM4_ENST00000374181.4_Missense_Mutation_p.R856H|GRM4_ENST00000535756.1_Missense_Mutation_p.R723H|GRM4_ENST00000544773.2_Missense_Mutation_p.R687H|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GCTGCGCTTGCGCTTGGGCAC	0.602													T	33996019	C	T	33996019	3	4	394	1	0	0	0	0	1	0	0	0	6854	768	27	1	179	1	GRM4	6	33996019	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		33996019	137119048	18	40483											
CRHR2	1395	broad.mit.edu	37	chr7	30695575	30695575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctcggatgtggtggacgcGcgtaactttgtcattaggat	7	13	14	7	4	2	0	1	0	1	0	3	3	2	3	0	4	1	1	0	4	2	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:30695575G>A	ENST00000471646.1	-	9	1302	c.885C>T	c.(883-885)cgC>cgT	p.R295R	CRHR2_ENST00000341843.4_Silent_p.R281R|CRHR2_ENST00000506074.2_Silent_p.R295R|CRHR2_ENST00000348438.4_Silent_p.R322R	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	295					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TGGTGGACGCGCGTAACTTTG	0.552													A	30695575	G	A	30695575	2	1	394	1	0	0	0	0	0	0	0	1	3903	1074	38	1		1	CRHR2	7	30695575	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		30695575	128443088	19	40484											
EGFR	1956	broad.mit.edu	37	chr7	55221711	55221711	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctccataggtctgccGcaaattccgagacgaagcca	10	8	8	15	3	2	1	0	0	2	1	5	3	4	1	5	1	2	1	5	1	3	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:55221711G>C	ENST00000275493.2	+	7	932	c.755G>C	c.(754-756)cGc>cCc	p.R252P	EGFR_ENST00000420316.2_Missense_Mutation_p.R252P|EGFR_ENST00000344576.2_Missense_Mutation_p.R252P|EGFR_ENST00000455089.1_Missense_Mutation_p.R207P|EGFR_ENST00000442591.1_Missense_Mutation_p.R252P|EGFR_ENST00000342916.3_Missense_Mutation_p.R252P|EGFR_ENST00000454757.2_Missense_Mutation_p.R199P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TAGGTCTGCCGCAAATTCCGA	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55221711	G	C	55221711	3	2	394	1	0	0	0	0	1	0	0	0	5006	1087	38	4	781	4	EGFR	7	55221711	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	24526136	55221711	103916952	20	40485											
ASNS	440	broad.mit.edu	37	chr7	97498435	97498435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acactgaacagaaaggcaatCatcactgccaaacagcgccc	16	4	7	14	1	2	2	2	1	0	1	2	2	2	2	2	1	4	1	2	1	4	0			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr7:97498435C>G	ENST00000175506.4	-	4	562	c.34G>C	c.(34-36)Gat>Cat	p.D12H	ASNS_ENST00000394309.3_Missense_Mutation_p.D12H|ASNS_ENST00000444334.1_Intron|ASNS_ENST00000422745.1_Intron|ASNS_ENST00000455086.1_Intron|ASNS_ENST00000394308.3_Missense_Mutation_p.D12H|ASNS_ENST00000437628.1_Intron	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	12	Glutamine amidotransferase type-2.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GAAAGGCAATCATCACTGCCA	0.418													G	97498435	C	G	97498435	3	3	394	1	0	0	0	0	1	0	0	0	1053	826	29	4	1695	4	ASNS	7	97498435	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	42276724	97498435	61640228	21	40486											
SOX7	83595	broad.mit.edu	37	chr8	10587872	10587872	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggcggcgattgtccatcCgacagctcggcgtccagggc	5	6	15	15	6	0	0	0	0	0	0	4	2	3	0	4	4	1	1	4	4	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:10587872C>T	ENST00000304501.1	-	1	150	c.72G>A	c.(70-72)tcG>tcA	p.S24S	CTD-2135J3.3_ENST00000519568.1_RNA|CTD-2135J3.3_ENST00000506149.2_RNA|SOX7_ENST00000553390.1_Intron|SOX7_ENST00000554914.1_Intron	NM_031439.2	NP_113627.1	Q9BT81	SOX7_HUMAN	SRY (sex determining region Y)-box 7	24					endoderm formation|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|positive regulation of caspase activity|regulation of canonical Wnt receptor signaling pathway	cytoplasm|nucleus	transcription regulatory region DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20				COAD - Colon adenocarcinoma(149;0.0732)		ATTGTCCATCCGACAGCTCGG	0.721													T	10587872	C	T	10587872	2	4	394	1	0	0	0	0	0	0	0	1	15050	639	23	1		1	SOX7	8	10587872	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		10587872	135776150	22	40487											
ADAM28	10863	broad.mit.edu	37	chr8	24187575	24187575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttggaatgtttcatgaCgactattcttgcaagtgtcc	10	15	8	8	1	2	1	1	1	1	0	3	3	3	2	1	1	2	2	1	1	4	5	rs151133749	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:24187575C>T	ENST00000265769.4	+	11	1160	c.1050C>T	c.(1048-1050)gaC>gaT	p.D350D	ADAM28_ENST00000437154.2_Silent_p.D350D|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000518516.1_3'UTR|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.D97D|ADAM28_ENST00000540823.1_Silent_p.D117D|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	350	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		TGTTTCATGACGACTATTCTT	0.453													T	24187575	C	T	24187575	2	4	394	1	0	0	0	0	0	0	0	1	246	535	19	1		1	ADAM28	8	24187575	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	13599703	24187575	122176447	23	40488											
TRPA1	8989	broad.mit.edu	37	chr8	72987644	72987644	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcctcaggctgcgcttcaTtgaccccaccccggacgcca	6	8	8	19	3	2	1	2	1	0	0	3	2	3	2	6	2	1	2	6	2	0	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:72987644T>C	ENST00000262209.4	-	1	208	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	1						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CTGCGCTTCATTGACCCCACC	0.667													C	72987644	T	C	72987644	1	2	394	1	0	0	0	0	0	0	0	0	16678	1493	52	3		3	TRPA1	8	72987644	Translation_Start_Site	SNP	T	TCGA-DU-7292-01A-11D-2024-08	48800069	72987644	73376378	24	40489											
FER1L6	654463	broad.mit.edu	37	chr8	125082819	125082819	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accatggtcttgatggagacCgagtcataggaaaatttaag	14	10	11	6	1	2	2	1	1	1	1	2	5	2	3	2	3	0	0	2	3	4	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr8:125082819C>T	ENST00000522917.1	+	30	4152	c.3946C>T	c.(3946-3948)Cga>Tga	p.R1316*	FER1L6_ENST00000399018.1_Nonsense_Mutation_p.R1316*|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1316						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TGATGGAGACCGAGTCATAGG	0.398													T	125082819	C	T	125082819	4	4	394	1	0	0	0	0	0	1	0	0	5864	644	23	1	4060	1	FER1L6	8	125082819	Nonsense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	52095175	125082819	21281203	25	40490											
ANXA1	301	broad.mit.edu	37	chr9	75773611	75773611	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatttctctctcattcttagCaaactgtgaagtcatccaaa	12	15	4	10	0	4	1	2	1	3	0	7	1	5	1	1	0	2	1	1	0	5	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:75773611C>T	ENST00000376911.1	+	2	949	c.67C>T	c.(67-69)Caa>Taa	p.Q23*	ANXA1_ENST00000257497.6_Splice_Site_p.Q23*			P04083	ANXA1_HUMAN	annexin A1	23					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TCATTCTTAGCAAACTGTGAA	0.373													T	75773611	C	T	75773611	5	4	394	1	0	0	0	0	0	0	1	0	714	724	25	2	73	2	ANXA1	9	75773611	Splice_Site	SNP	C	TCGA-DU-7292-01A-11D-2024-08		75773611	65439820	26	40491											
GCNT1	2650	broad.mit.edu	37	chr9	79117864	79117864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgtggtttatgcatcGtggagccgggttcaggctga	7	11	17	6	2	1	2	1	1	0	1	2	4	1	3	1	4	2	4	1	4	1	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr9:79117864G>A	ENST00000442371.1	+	3	1506	c.567G>A	c.(565-567)tcG>tcA	p.S189S	GCNT1_ENST00000536223.1_Silent_p.S189S|GCNT1_ENST00000444201.2_Silent_p.S189S|GCNT1_ENST00000376730.4_Silent_p.S189S	NM_001097634.1	NP_001091103.1	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	189	Catalytic (By similarity).				protein O-linked glycosylation	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTATGCATCGTGGAGCCGGG	0.458													A	79117864	G	A	79117864	2	1	394	1	0	0	0	0	0	0	0	1	6354	1132	40	1		1	GCNT1	9	79117864	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	3344253	79117864	62095567	27	40492											
PPP3CB	5532	broad.mit.edu	37	chr10	75204477	75204477	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacagcaagttgcataacatCattaccactttgcagggtct	12	11	7	11	0	2	0	1	0	1	0	2	0	2	0	1	1	5	4	1	1	3	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr10:75204477C>G	ENST00000342558.3	-	12	1478	c.1372G>C	c.(1372-1374)Gat>Cat	p.D458H	PPP3CB_ENST00000544628.1_Intron|PPP3CB_ENST00000394822.2_Missense_Mutation_p.D476H|PPP3CB_ENST00000394829.2_Intron|PPP3CB_ENST00000360663.5_Intron|PPP3CB_ENST00000394828.2_Intron|PPP3CB_ENST00000545874.1_Missense_Mutation_p.D373H			P16298	PP2BB_HUMAN	protein phosphatase 3, catalytic subunit, beta isozyme	0										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(7)|skin(1)|urinary_tract(1)	22	Prostate(51;0.0119)					TGCATAACATCATTACCACTT	0.493													G	75204477	C	G	75204477	3	3	394	1	0	0	0	0	1	0	0	0	12480	841	29	4		4	PPP3CB	10	75204477	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		75204477	60330270	28	40493											
MRVI1	10335	broad.mit.edu	37	chr11	10622600	10622600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgttgctttcgacatgcGcttttcctgcggggaaggag	5	13	13	10	4	0	0	0	0	0	0	3	3	2	2	2	3	3	3	2	3	1	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:10622600G>A	ENST00000547195.1	-	14	2109	c.1609C>T	c.(1609-1611)Cgc>Tgc	p.R537C	LYVE1_ENST00000531706.1_Intron|MRVI1_ENST00000541483.1_Missense_Mutation_p.R422C|MRVI1_ENST00000558540.1_Missense_Mutation_p.R313C|MRVI1_ENST00000527509.2_Missense_Mutation_p.R537C|MRVI1_ENST00000545852.1_Missense_Mutation_p.R313C|MRVI1_ENST00000531107.1_Missense_Mutation_p.R620C|MRVI1_ENST00000424001.1_Missense_Mutation_p.R313C|MRVI1_ENST00000436272.1_Missense_Mutation_p.R601C|MRVI1_ENST00000534266.2_Missense_Mutation_p.R313C|MRVI1_ENST00000421747.1_Missense_Mutation_p.R619C|MRVI1_ENST00000552103.1_Missense_Mutation_p.R537C|MRVI1_ENST00000423302.2_Missense_Mutation_p.R628C	NM_001100163.2|NM_001206881.1	NP_001093633.1|NP_001193810.1	Q9Y6F6	MRVI1_HUMAN	murine retrovirus integration site 1 homolog	601	Interaction with ITPR1 (By similarity).				platelet activation	endoplasmic reticulum membrane|integral to membrane|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)	22				all cancers(16;2.68e-07)|Epithelial(150;3.04e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0723)		TTCGACATGCGCTTTTCCTGC	0.507													A	10622600	G	A	10622600	3	1	394	1	0	0	0	0	1	0	0	0	9929	1087	38	1	884	1	MRVI1	11	10622600	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		10622600	124383916	29	40494											
OR5T3	390154	broad.mit.edu	37	chr11	56020051	56020051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaatccatttcatttatcGgatgtgcaacacagatgctt	13	14	6	8	1	1	1	1	0	0	1	3	2	2	2	1	1	3	2	1	1	4	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:56020051G>A	ENST00000303059.3	+	1	376	c.376G>A	c.(376-378)Gga>Aga	p.G126R		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					TTCATTTATCGGATGTGCAAC	0.363													A	56020051	G	A	56020051	3	1	394	1	0	0	0	0	1	0	0	0	11259	1117	39	1	378	1	OR5T3	11	56020051	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	45397451	56020051	78986465	30	40495											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57076923	57076923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacactgaggctaaactcacCgacccagcctcgctttccca	11	7	6	17	2	1	1	1	1	0	0	3	2	2	1	4	1	3	2	4	1	3	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:57076923C>T	ENST00000532437.1	-	5	3573	c.3262G>A	c.(3262-3264)Ggt>Agt	p.G1088S	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.G1088S			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	1088	Acidic.|Gly-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				CTAAACTCACCGACCCAGCCT	0.642													T	57076923	C	T	57076923	3	4	394	1	0	0	0	0	1	0	0	0	16420	652	23	1	1951	1	TNKS1BP1	11	57076923	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	1056872	57076923	77929593	31	40496											
NUMA1	4926	broad.mit.edu	37	chr11	71725528	71725528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgctcctgggtcagccgCgccacctccctttcctgctg	2	9	9	21	3	1	0	1	0	0	0	4	0	4	0	8	1	2	2	8	1	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr11:71725528C>T	ENST00000393695.3	-	15	3352	c.3021G>A	c.(3019-3021)gcG>gcA	p.A1007A	NUMA1_ENST00000351960.6_Intron|RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000358965.6_Silent_p.A1007A	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1007					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GGGTCAGCCGCGCCACCTCCC	0.687			T	RARA	APL								T	71725528	C	T	71725528	2	4	394	1	0	0	0	0	0	0	0	1	10826	755	27	1		1	NUMA1	11	71725528	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	14648605	71725528	63280988	32	40497											
PIP4K2C	79837	broad.mit.edu	37	chr12	57989814	57989814	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctctccaactatcaccaGgtcaggcctctctctagccc	9	9	5	18	0	5	0	2	0	3	0	7	0	5	0	5	2	3	0	5	2	4	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:57989814G>A	ENST00000354947.5	+	4	529	c.513G>A	c.(511-513)caG>caA	p.Q171Q	PIP4K2C_ENST00000550465.1_Splice_Site_p.Q153Q|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000540759.2_Splice_Site_p.Q171Q			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	171	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					ACTATCACCAGGTCAGGCCTC	0.478													A	57989814	G	A	57989814	5	1	394	1	0	0	0	0	0	0	1	0	12015	1014	35	2	527	2	PIP4K2C	12	57989814	Splice_Site	SNP	G	TCGA-DU-7292-01A-11D-2024-08		57989814	75862081	33	40498											
WIF1	11197	broad.mit.edu	37	chr12	65460502	65460502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaccattcatacatcGtggggtacaaagggcttata	13	10	9	9	1	1	0	1	0	0	0	3	0	2	0	2	3	2	2	2	3	6	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr12:65460502G>A	ENST00000286574.4	-	6	1023	c.649C>T	c.(649-651)Cga>Tga	p.R217*		NM_007191.4	NP_009122.2	Q9Y5W5	WIF1_HUMAN	WNT inhibitory factor 1	217	EGF-like 2.				multicellular organismal development|Wnt receptor signaling pathway	extracellular region	protein tyrosine kinase activity			cervix(1)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	21			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0231)		TTCATACATCGTGGGGTACAA	0.428			T	HMGA2	pleomorphic salivary gland adenoma								A	65460502	G	A	65460502	4	1	394	1	0	0	0	0	0	1	0	0	17468	1153	40	1	510	1	WIF1	12	65460502	Nonsense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	7470688	65460502	68391393	34	40499											
WASF3	10810	broad.mit.edu	37	chr13	27257045	27257045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccagtagctgaggcgaagCggcaagagcctgcacagcca	11	3	13	14	2	0	2	0	1	0	1	0	3	0	2	4	2	5	4	4	2	3	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:27257045C>T	ENST00000361042.4	+	9	1501	c.1276C>T	c.(1276-1278)Cgg>Tgg	p.R426W	WASF3_ENST00000335327.5_Missense_Mutation_p.R429W			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	429					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGAGGCGAAGCGGCAAGAGCC	0.647													T	27257045	C	T	27257045	3	4	394	1	0	0	0	0	1	0	0	0	17356	759	27	1	1311	1	WASF3	13	27257045	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		27257045	87912833	35	40500											
SOHLH2	54937	broad.mit.edu	37	chr13	36764136	36764136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatctttttgtttttctcGaactctgacaacgaagcatt	10	16	7	8	2	3	2	0	1	3	1	4	5	3	2	0	0	3	2	0	0	3	5	rs144665592	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:36764136G>A	ENST00000379881.3	-	6	676	c.588C>T	c.(586-588)ttC>ttT	p.F196F	SOHLH2_ENST00000317764.6_Silent_p.F196F|CCDC169-SOHLH2_ENST00000511166.1_Silent_p.F273F|SOHLH2_ENST00000554962.1_Silent_p.F273F	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2									p.F196F(1)		autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TGTTTTTCTCGAACTCTGACA	0.333													A	36764136	G	A	36764136	2	1	394	1	0	0	0	0	0	0	0	1	15018	1049	37	1		1	SOHLH2	13	36764136	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	9507091	36764136	78405742	36	40501											
SLITRK6	84189	broad.mit.edu	37	chr13	86368978	86368978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	actatttagggctttcaattCctttttgtcgagatgcccgg	7	16	9	9	2	1	1	1	0	0	1	3	2	2	1	2	2	1	1	2	2	3	7			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr13:86368978C>T	ENST00000400286.2	-	2	2264	c.1666G>A	c.(1666-1668)Gaa>Aaa	p.E556K		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	556	LRRCT 2.					integral to membrane		p.E556K(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		GCTTTCAATTCCTTTTTGTCG	0.453													T	86368978	C	T	86368978	3	4	394	1	0	0	0	0	1	0	0	0	14841	864	30	2	863	2	SLITRK6	13	86368978	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	49604842	86368978	28800900	37	40502											
CIB2	10518	broad.mit.edu	37	chr15	78398161	78398161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccgtccaagtcagcctcCtcaatgaccttgtcgcacac	9	9	6	17	2	3	1	3	1	0	0	6	1	5	1	5	0	1	1	5	0	2	1	rs117153558	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr15:78398161C>T	ENST00000258930.3	-	5	790	c.462G>A	c.(460-462)gaG>gaA	p.E154E	CIB2_ENST00000539011.1_Silent_p.E111E|CIB2_ENST00000560618.1_Silent_p.E111E|CIB2_ENST00000557846.1_Silent_p.E105E	NM_006383.2	NP_006374.1	O75838	CIB2_HUMAN	calcium and integrin binding family member 2	154	EF-hand 3.						calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	11						AGTCAGCCTCCTCAATGACCT	0.592													T	78398161	C	T	78398161	2	4	394	1	0	0	0	0	0	0	0	1	3451	680	24	2		2	CIB2	15	78398161	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		78398161	24133231	38	40503											
CCDC64B	146439	broad.mit.edu	37	chr16	3085393	3085393	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccccctcccaggaatgaGtcccgccgctccagcacaaa	9	4	10	18	2	0	1	0	1	0	0	3	2	3	2	6	2	1	2	6	2	2	0			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:3085393G>A	ENST00000572449.1	-	2	167	c.105C>T	c.(103-105)gaC>gaT	p.D35D	RP11-473M20.5_ENST00000382225.3_RNA|CCDC64B_ENST00000389347.4_Silent_p.D35D			A1A5D9	BICR2_HUMAN	coiled-coil domain containing 64B	35										breast(1)|endometrium(2)|large_intestine(1)	4						CCAGGAATGAGTCCCGCCGCT	0.692													A	3085393	G	A	3085393	2	1	394	1	0	0	0	0	0	0	0	1	2864	1020	36	2		2	CCDC64B	16	3085393	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08		3085393	87269360	39	40504											
OTOA	146183	broad.mit.edu	37	chr16	21702976	21702976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctctattcctggatgaCtggaatactgcagacatcct	10	12	8	11	0	1	2	0	1	1	1	4	4	3	4	2	2	3	2	2	2	3	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr16:21702976C>G	ENST00000388958.3	+	8	708	c.707C>G	c.(706-708)aCt>aGt	p.T236S	OTOA_ENST00000388956.4_Missense_Mutation_p.T157S|OTOA_ENST00000286149.4_Missense_Mutation_p.T236S	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	236					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		TCCTGGATGACTGGAATACTG	0.468													G	21702976	C	G	21702976	3	3	394	1	0	0	0	0	1	0	0	0	11378	565	20	4	771	4	OTOA	16	21702976	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	18617583	21702976	68651777	40	40505											
MYH3	4621	broad.mit.edu	37	chr17	10554966	10554966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaggggttgacagtgacaCagaagaggcctgagtaggtc	11	8	16	6	0	0	5	0	3	0	2	1	5	0	5	1	4	0	3	1	4	3	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:10554966C>T	ENST00000583535.1	-	5	455	c.368G>A	c.(367-369)tGt>tAt	p.C123Y	MYH3_ENST00000226209.7_Missense_Mutation_p.C123Y	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	123	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						GACAGTGACACAGAAGAGGCC	0.498													T	10554966	C	T	10554966	3	4	394	1	0	0	0	0	1	0	0	0	10112	478	17	2	5602	2	MYH3	17	10554966	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08		10554966	70640244	41	40506											
G6PC	2538	broad.mit.edu	37	chr17	41059630	41059630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggaaagataaagcCgacctacagatttcggtaag	14	9	10	8	2	1	2	1	0	0	2	2	4	1	3	2	2	2	1	2	2	5	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:41059630C>T	ENST00000253801.2	+	3	510	c.431C>T	c.(430-432)cCg>cTg	p.P144L	G6PC_ENST00000592383.1_Silent_p.A118A|G6PC_ENST00000585489.1_Missense_Mutation_p.P144L	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	144					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AAGATAAAGCCGACCTACAGA	0.527													T	41059630	C	T	41059630	3	4	394	1	0	0	0	0	1	0	0	0	6195	652	23	1	441	1	G6PC	17	41059630	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	30504664	41059630	40135580	42	40507											
SAMD14	201191	broad.mit.edu	37	chr17	48193445	48193445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaggaggactggcgtcaCggctgtcatctttccaggga	7	9	14	11	2	4	0	3	0	1	0	5	3	5	3	1	5	0	2	1	5	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:48193445C>T	ENST00000330175.4	-	5	826	c.509G>A	c.(508-510)cGt>cAt	p.R170H	SAMD14_ENST00000503131.1_Missense_Mutation_p.R170H|SAMD14_ENST00000503734.1_5'UTR	NM_001257359.1	NP_001244288.1	Q8IZD0	SAM14_HUMAN	sterile alpha motif domain containing 14	170										breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(3)|prostate(1)|urinary_tract(1)	15						ACTGGCGTCACGGCTGTCATC	0.602													T	48193445	C	T	48193445	3	4	394	1	0	0	0	0	1	0	0	0	13910	536	19	1	856	1	SAMD14	17	48193445	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	7133815	48193445	33001765	43	40508											
GPRC5C	55890	broad.mit.edu	37	chr17	72436710	72436710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatcgtcatgtatacttaCggcaacaagcagcacaacag	14	8	9	10	2	1	0	1	0	0	0	2	1	1	1	0	2	6	4	0	2	6	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr17:72436710C>T	ENST00000392627.1	+	2	2056	c.930C>T	c.(928-930)taC>taT	p.Y310Y	GPRC5C_ENST00000392629.2_Silent_p.Y277Y|GPRC5C_ENST00000481232.1_Intron|GPRC5C_ENST00000342648.5_Intron	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	265						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						TGTATACTTACGGCAACAAGC	0.607													T	72436710	C	T	72436710	2	4	394	1	0	0	0	0	0	0	0	1	6781	547	19	1		1	GPRC5C	17	72436710	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	24243265	72436710	8758500	44	40509											
ZNF333	84449	broad.mit.edu	37	chr19	14828520	14828520	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagccaagatacttttacagAgatcctgtccattgatgtga	12	13	8	8	0	0	4	0	2	0	2	2	5	2	4	3	0	3	0	3	0	4	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:14828520A>C	ENST00000292530.6	+	11	966	c.875A>C	c.(874-876)gAg>gCg	p.E292A	ZNF333_ENST00000540689.2_Missense_Mutation_p.E292A|ZNF333_ENST00000536363.1_Missense_Mutation_p.E183A	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	292					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						ACTTTTACAGAGATCCTGTCC	0.418													C	14828520	A	C	14828520	3	2	394	1	0	0	0	0	1	0	0	0	17951	304	11	5	913	5	ZNF333	19	14828520	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08		14828520	44300463	45	40510											
WDR62	284403	broad.mit.edu	37	chr19	36590446	36590447	+	In_Frame_Ins	INS	-	-	GAAGCC																															gattgctactttacccccatINSgaagcccgagagtctggaga																								rs139749569	byFrequency	TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:36590446_36590447insGAAGCC	ENST00000401500.2	+	22	2701_2702	c.2666_2667insGAAGCC	c.(2665-2670)atgaag>atGAAGCCgaag	p.890_891insPK	WDR62_ENST00000270301.7_In_Frame_Ins_p.890_891insPK	NM_001083961.1|NM_173636.4	NP_001077430.1|NP_775907.4	O43379	WDR62_HUMAN	WD repeat domain 62	890					cerebral cortex development	nucleus				cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(15)|prostate(4)|stomach(2)|urinary_tract(3)	43	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TTTACCCCCATGAAGCCCGAGA	0.634													GAAGCC	36590447	-	GAAGCC	36590446	7	5	394	1	0	1	1	0	0	0	0	0	17415	1464	51	0	2752	0	WDR62	19	36590446	In_Frame_Ins	INS	-	TCGA-DU-7292-01A-11D-2024-08	21761926	36590446	22538537	46	40511											
ARHGAP35	2909	broad.mit.edu	37	chr19	47423551	47423551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaagctccaagcagagcGtgatgcccttattctgaaac	14	8	8	11	1	1	3	0	2	1	1	2	3	2	3	2	0	5	2	2	0	5	2			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:47423551G>A	ENST00000404338.3	+	1	1619	c.1619G>A	c.(1618-1620)cGt>cAt	p.R540H		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	540					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										CAAGCAGAGCGTGATGCCCTT	0.483													A	47423551	G	A	47423551	3	1	394	1	0	0	0	0	1	0	0	0	6850	1145	40	1	1621	1	ARHGAP35	19	47423551	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	10833105	47423551	11705432	47	40512											
TSKS	60385	broad.mit.edu	37	chr19	50249906	50249906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggcggggcccaggctGttccaggagaggccagcctc	5	5	18	13	2	0	1	0	0	0	1	2	2	1	1	4	7	1	2	4	7	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:50249906G>A	ENST00000246801.3	-	6	895	c.813C>T	c.(811-813)aaC>aaT	p.N271N	TSKS_ENST00000358830.3_Silent_p.N71N	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	271							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GGCCCAGGCTGTTCCAGGAGA	0.731													A	50249906	G	A	50249906	2	1	394	1	0	0	0	0	0	0	0	1	16727	1368	48	2		2	TSKS	19	50249906	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	2826355	50249906	8879077	48	40513											
NLRP4	147945	broad.mit.edu	37	chr19	56369014	56369014	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcttaactttgtgggttttCtctcctcttgccctcactga	4	18	7	12	0	3	1	1	1	2	0	5	1	4	1	2	1	3	2	2	1	1	5			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr19:56369014C>G	ENST00000587891.1	+	1	204	c.30C>G	c.(28-30)ttC>ttG	p.F10L	NLRP4_ENST00000346986.5_Intron|NLRP4_ENST00000301295.6_Intron			Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	0	DAPIN.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TGTGGGTTTTCTCTCCTCTTG	0.473													G	56369014	C	G	56369014	3	3	394	1	0	0	0	0	1	0	0	0	10555	928	32	4		4	NLRP4	19	56369014	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	6119108	56369014	2759969	49	40514											
TGM3	7053	broad.mit.edu	37	chr20	2321165	2321165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccaagcaactgctcgccGacttctcctgcaacaagttc	10	8	7	16	2	1	0	0	0	1	0	4	1	1	0	3	0	5	5	3	0	4	2	rs140423684		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:2321165G>A	ENST00000381458.5	+	13	2083	c.2020G>A	c.(2020-2022)Gac>Aac	p.D674N		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	674				D -> G (in Ref. 2; BAF84040).	cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	ACTGCTCGCCGACTTCTCCTG	0.602													A	2321165	G	A	2321165	3	1	394	1	0	0	0	0	1	0	0	0	15931	1058	37	1	2070	1	TGM3	20	2321165	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08		2321165	60704355	50	40515											
EEF1A2	1917	broad.mit.edu	37	chr20	62127281	62127281	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgatgatggtgatgtagtaCttggtggtctcgaacttcca	8	14	12	7	2	1	2	0	2	1	0	4	4	2	2	1	3	2	2	1	3	3	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr20:62127281C>G	ENST00000217182.3	-	3	417	c.252G>C	c.(250-252)aaG>aaC	p.K84N	EEF1A2_ENST00000298049.7_Missense_Mutation_p.K84N	NM_001958.3	NP_001949.1	Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	84						nucleus	GTP binding|GTPase activity|protein binding|translation elongation factor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TGATGTAGTACTTGGTGGTCT	0.592											OREG0026129	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	62127281	C	G	62127281	3	3	394	1	0	0	0	0	1	0	0	0	4963	564	20	4	1163	4	EEF1A2	20	62127281	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	59806116	62127281	898239	51	40516											
JAM2	58494	broad.mit.edu	37	chr21	27062196	27062196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggctattttagcctgcaAaaccccaaagaagactgttt	14	10	8	9	0	0	3	0	0	0	3	0	3	0	3	3	1	3	3	3	1	6	4			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:27062196A>G	ENST00000480456.1	+	3	702	c.152A>G	c.(151-153)aAa>aGa	p.K51R	JAM2_ENST00000312957.5_Missense_Mutation_p.K51R|JAM2_ENST00000425221.2_Intron|JAM2_ENST00000400532.1_Missense_Mutation_p.K51R	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	51	Ig-like V-type.				blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						TTAGCCTGCAAAACCCCAAAG	0.368													G	27062196	A	G	27062196	3	3	394	1	0	0	0	0	1	0	0	0	8001	14	1	3	162	3	JAM2	21	27062196	Missense_Mutation	SNP	A	TCGA-DU-7292-01A-11D-2024-08		27062196	21067699	52	40517											
DSCAM	1826	broad.mit.edu	37	chr21	41711192	41711192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgtgatcatctggctgatgCggtgactgccacccttgaga	8	10	12	11	2	2	4	1	4	1	1	2	5	2	4	2	2	2	1	2	2	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:41711192C>T	ENST00000400454.1	-	7	1838	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	454	Ig-like C2-type 5.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CTGGCTGATGCGGTGACTGCC	0.602													T	41711192	C	T	41711192	3	4	394	1	0	0	0	0	1	0	0	0	4807	768	27	1	4785	1	DSCAM	21	41711192	Missense_Mutation	SNP	C	TCGA-DU-7292-01A-11D-2024-08	14648996	41711192	6418703	53	40518											
SLC19A1	6573	broad.mit.edu	37	chr21	46951525	46951525	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtccccacaggccacccGcagggcgtgtcccagcttcc	6	6	11	18	2	0	1	0	1	0	0	3	1	3	1	6	2	1	2	6	2	0	1			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:46951525G>T	ENST00000311124.4	-	3	879	c.727C>A	c.(727-729)Cgg>Agg	p.R243R	SLC19A1_ENST00000567670.1_Silent_p.R243R|SLC19A1_ENST00000485649.2_Silent_p.R203R|SLC19A1_ENST00000380010.4_Silent_p.R243R	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	243					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		CAGGCCACCCGCAGGGCGTGT	0.706													T	46951525	G	T	46951525	2	4	394	1	0	0	0	0	0	0	0	1	14522	1086	38	4		4	SLC19A1	21	46951525	Silent	SNP	G	TCGA-DU-7292-01A-11D-2024-08	5240333	46951525	1178370	54	40519											
PCNT	5116	broad.mit.edu	37	chr21	47845846	47845846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccaccccggaaggaagaCgagatacaggacatctcgct	13	4	10	14	3	1	2	0	0	1	2	2	6	1	5	3	3	1	1	3	3	3	1	rs138588682		TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr21:47845846C>T	ENST00000359568.5	+	33	7388	c.7281C>T	c.(7279-7281)gaC>gaT	p.D2427D	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	2427					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					GGAAGGAAGACGAGATACAGG	0.552													T	47845846	C	T	47845846	2	4	394	1	0	0	0	0	0	0	0	1	11666	535	19	1		1	PCNT	21	47845846	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08	894321	47845846	284049	55	40520											
NF2	4771	broad.mit.edu	37	chr22	30069292	30069292	+	Frame_Shift_Del	DEL	A	A	-																															gacagctgacctgttggctgAaaaggcccagatcaccgagg																										TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chr22:30069292delA	ENST00000338641.4	+	12	1598	c.1157delA	c.(1156-1158)gaafs	p.E386fs	NF2_ENST00000361166.4_Frame_Shift_Del_p.E386fs|NF2_ENST00000353887.4_Frame_Shift_Del_p.E303fs|NF2_ENST00000403999.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000334961.7_Frame_Shift_Del_p.E303fs|NF2_ENST00000403435.1_Frame_Shift_Del_p.E357fs|NF2_ENST00000361676.4_Frame_Shift_Del_p.E344fs|NF2_ENST00000347330.5_Intron|NF2_ENST00000413209.2_Intron|NF2_ENST00000397789.3_Frame_Shift_Del_p.E386fs|NF2_ENST00000361452.4_Frame_Shift_Del_p.E345fs	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	386	Glu-rich.				actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.L383fs*12(1)|p.M375fs*20(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						CTGTTGGCTGAAAAGGCCCAG	0.587			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				-	30069292	A	-	30069292	7	5	394	1	0	1	0	1	0	0	0	0	10433	246	9	0	1203	0	NF2	22	30069292	Frame_Shift_Del	DEL	A	TCGA-DU-7292-01A-11D-2024-08		30069292	21235274	56	40521											
FRMPD4	9758	broad.mit.edu	37	chrX	12736404	12736404	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaccgcttcttaactgaCgtgacctgtgcatcttcagc	7	11	11	12	2	3	2	1	2	2	0	3	3	3	3	2	2	3	2	2	2	1	3			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:12736404C>T	ENST00000380682.1	+	16	3965	c.3459C>T	c.(3457-3459)gaC>gaT	p.D1153D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1153					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TCTTAACTGACGTGACCTGTG	0.552													T	12736404	C	T	12736404	2	4	394	1	0	0	0	0	0	0	0	1	6111	535	19	1		1	FRMPD4	23	12736404	Silent	SNP	C	TCGA-DU-7292-01A-11D-2024-08		12736404	142534156	57	40522											
POF1B	79983	broad.mit.edu	37	chrX	84600916	84600916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagttcatttccaatatGtgtagaaattggattatttc	12	16	7	6	0	1	1	1	0	0	1	3	2	2	2	1	1	0	3	1	1	5	7			TCGA-DU-7292-01A-11D-2024-08	TCGA-DU-7292-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5ba698-330f-45de-9f1f-aee1235775b7	4debfd4f-275c-41f6-a4f7-ed2917dc1a3f	g.chrX:84600916G>A	ENST00000262753.4	-	6	818	c.673C>T	c.(673-675)Cat>Tat	p.H225Y	POF1B_ENST00000373145.3_Missense_Mutation_p.H225Y	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	225							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						TTTCCAATATGTGTAGAAATT	0.418													A	84600916	G	A	84600916	3	1	394	1	0	0	0	0	1	0	0	0	12259	1377	48	2	1144	2	POF1B	23	84600916	Missense_Mutation	SNP	G	TCGA-DU-7292-01A-11D-2024-08	71864512	84600916	70669644	58	40523											
MMEL1	79258	broad.mit.edu	37	chr1	2529663	2529663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcggtagttcactcGtgtgtccttgaatctctggc	5	14	10	12	2	2	1	1	1	1	0	5	1	3	1	2	2	1	2	2	2	2	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:2529663G>A	ENST00000288709.6	-	13	1468	c.1228C>T	c.(1228-1230)Cga>Tga	p.R410*	MMEL1_ENST00000378412.3_Nonsense_Mutation_p.R419*|MMEL1_ENST00000502556.1_Nonsense_Mutation_p.R262*	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	419					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TAGTTCACTCGTGTGTCCTTG	0.582													A	2529663	G	A	2529663	4	1	395	1	0	0	0	0	0	1	0	0	9721	1153	40	1	1132	1	MMEL1	1	2529663	Nonsense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		2529663	246720958	1	40524											
TPM3	7170	broad.mit.edu	37	chr1	154145663	154145663	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttttaaggcccggttttcaAtaaccttcatacctctgcca	9	14	5	13	1	3	0	2	0	1	0	3	0	3	0	4	2	3	1	4	2	4	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr1:154145663A>G	ENST00000368533.3	-	3	333	c.281T>C	c.(280-282)aTt>aCt	p.I94T	TPM3_ENST00000341485.5_Intron|TPM3_ENST00000368530.2_Missense_Mutation_p.I131T|TPM3_ENST00000469717.1_5'UTR|TPM3_ENST00000302206.5_Missense_Mutation_p.I4T|TPM3_ENST00000341372.3_Missense_Mutation_p.I69T|TPM3_ENST00000328159.4_Missense_Mutation_p.I94T|TPM3_ENST00000323144.7_Missense_Mutation_p.I94T|TPM3_ENST00000368531.2_Missense_Mutation_p.I94T|TPM3_ENST00000271850.7_Missense_Mutation_p.I131T|TPM3_ENST00000330188.9_Missense_Mutation_p.I94T	NM_001043352.1|NM_001278188.1|NM_153649.3	NP_001036817.1|NP_001265117.1|NP_705935.1	P06753	TPM3_HUMAN	tropomyosin 3	130					cellular component movement|muscle filament sliding|regulation of muscle contraction	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding		TPM3/NTRK1_ENST00000392302(70)|TPM3/ALK(33)	breast(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					CCGGTTTTCAATAACCTTCAT	0.433			T	"NTRK1, ALK, ROS1"	"papillary thyroid, ALCL, NSCLC"								G	154145663	A	G	154145663	3	3	395	1	0	0	0	0	1	0	0	0	16508	101	4	3	744	3	TPM3	1	154145663	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	151616000	154145663	95104958	2	40525											
TMEM131	23505	broad.mit.edu	37	chr2	98377070	98377070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtacctgtctgagccatcGctgtcaacaggagcgtgtga	8	9	12	12	3	2	2	1	2	1	0	3	3	2	3	3	1	4	2	3	1	2	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:98377070G>A	ENST00000186436.5	-	38	5322	c.5094C>T	c.(5092-5094)agC>agT	p.S1698S		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1698	Ser-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						CTGAGCCATCGCTGTCAACAG	0.478													A	98377070	G	A	98377070	2	1	395	1	0	0	0	0	0	0	0	1	16144	1078	38	1		1	TMEM131	2	98377070	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		98377070	144822303	3	40526											
COBLL1	22837	broad.mit.edu	37	chr2	165579003	165579003	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttctttctccttcataaTatctaggttttgtgatattt	8	23	4	6	0	4	1	1	1	3	0	5	1	4	1	1	1	0	1	1	1	4	11			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:165579003T>C	ENST00000375458.2	-	5	912	c.691A>G	c.(691-693)Att>Gtt	p.I231V	COBLL1_ENST00000194871.6_Missense_Mutation_p.I297V|COBLL1_ENST00000491126.2_Intron|COBLL1_ENST00000392717.2_Missense_Mutation_p.I269V|COBLL1_ENST00000342193.4_Missense_Mutation_p.I231V|COBLL1_ENST00000409184.3_Missense_Mutation_p.I269V	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	269										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TCCTTCATAATATCTAGGTTT	0.313													C	165579003	T	C	165579003	3	2	395	1	0	0	0	0	1	0	0	0	3685	1406	49	3	2849	3	COBLL1	2	165579003	Missense_Mutation	SNP	T	TCGA-DU-7294-01A-11D-2024-08	67201933	165579003	77620370	4	40527											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	395	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08	43534109	209113112	34086261	5	40528											
USP37	57695	broad.mit.edu	37	chr2	219321847	219321847	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctaccaatgtgactgacaAcactgatgagccggtacgaa	13	8	10	10	2	0	4	0	4	0	0	0	5	0	4	2	1	5	2	2	1	5	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr2:219321847A>C	ENST00000258399.3	-	24	3093	c.2681T>G	c.(2680-2682)gTt>gGt	p.V894G	USP37_ENST00000415516.1_Missense_Mutation_p.V800G|USP37_ENST00000418019.1_Missense_Mutation_p.V894G|USP37_ENST00000454775.1_Missense_Mutation_p.V894G	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	894					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTGACTGACAACACTGATGAG	0.363													C	219321847	A	C	219321847	3	2	395	1	0	0	0	0	1	0	0	0	17170	43	2	5	270	5	USP37	2	219321847	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	10208735	219321847	23877526	6	40529											
UBE2B	7320	broad.mit.edu	37	chr5	133725924	133725924	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttcctcctagtctctgctGgatgaaccgaatcctaacag	9	12	7	13	1	1	1	0	1	1	0	5	3	4	2	4	1	3	1	4	1	4	3			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr5:133725924G>T	ENST00000265339.2	+	6	756	c.339G>T	c.(337-339)ctG>ctT	p.L113L	UBE2B_ENST00000511807.1_3'UTR	NM_003337.2	NP_003328.1	P63146	UBE2B_HUMAN	ubiquitin-conjugating enzyme E2B	113					canonical Wnt receptor signaling pathway|histone H2A ubiquitination|negative regulation of cAMP-mediated signaling|postreplication repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein K11-linked ubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein stabilization|response to drug|response to UV	cytoplasm|plasma membrane|replication fork	ATP binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity			kidney(1)|large_intestine(2)|lung(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AGTCTCTGCTGGATGAACCGA	0.388								Rad6 pathway					T	133725924	G	T	133725924	2	4	395	1	0	0	0	0	0	0	0	1	16947	1335	47	4		4	UBE2B	5	133725924	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		133725924	47189336	7	40530											
MAGI2	9863	broad.mit.edu	37	chr7	77998517	77998517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcgattttttcccaGccatatggaagctctgaaaa	12	12	8	9	1	2	1	1	1	1	0	4	4	3	3	2	2	2	1	2	2	4	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:77998517G>C	ENST00000354212.4	-	7	1312	c.1059C>G	c.(1057-1059)ggC>ggG	p.G353G	MAGI2_ENST00000536571.1_Silent_p.G185G|MAGI2_ENST00000522391.1_Silent_p.G353G|MAGI2_ENST00000419488.1_Silent_p.G353G|MAGI2_ENST00000535697.1_Silent_p.G190G	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	353	Interaction with DDN.|WW 2.					cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				TTTTTTCCCAGCCATATGGAA	0.274													C	77998517	G	C	77998517	2	2	395	1	0	0	0	0	0	0	0	1	9266	958	34	4		4	MAGI2	7	77998517	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		77998517	81140146	8	40531											
PCLO	27445	broad.mit.edu	37	chr7	82583261	82583261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgatcaaacacggtttcGgataagctactttttgttcg	9	14	11	7	3	1	1	1	1	0	0	3	2	1	2	0	3	3	3	0	3	3	6			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:82583261G>A	ENST00000333891.9	-	5	7345	c.7008C>T	c.(7006-7008)tcC>tcT	p.S2336S	PCLO_ENST00000423517.2_Silent_p.S2336S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Poly-Pro.|Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACACGGTTTCGGATAAGCTAC	0.428													A	82583261	G	A	82583261	2	1	395	1	0	0	0	0	0	0	0	1	11659	1103	39	1		1	PCLO	7	82583261	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	4584744	82583261	76555402	9	40532											
ACN9	57001	broad.mit.edu	37	chr7	96747045	96747045	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggggcgctatgccggggCggcacgtttctcgagtccgg	3	8	18	12	7	1	0	0	0	1	0	3	1	2	0	2	6	1	3	2	6	1	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:96747045C>A	ENST00000432641.2	+	1	1144	c.10C>A	c.(10-12)Cgg>Agg	p.R4R	ACN9_ENST00000360382.4_Silent_p.R4R	NM_020186.2	NP_064571.1	Q9NRP4	ACN9_HUMAN	ACN9 homolog (S. cerevisiae)	4					regulation of gluconeogenesis	mitochondrial intermembrane space				large_intestine(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(3)	10	all_cancers(62;2.54e-08)|all_epithelial(64;2.24e-08)|Esophageal squamous(72;0.00507)|all_lung(186;0.154)|Lung NSC(181;0.159)					TATGCCGGGGCGGCACGTTTC	0.647													A	96747045	C	A	96747045	2	1	395	1	0	0	0	0	0	0	0	1	145	759	27	4		4	ACN9	7	96747045	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08	14163784	96747045	62391618	10	40533											
TMEM176A	55365	broad.mit.edu	37	chr7	150500857	150500857	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactggaacactccagccccCactcagagtccagaagaagt	13	5	9	14	0	1	3	1	0	0	3	3	5	3	4	4	1	2	0	4	1	3	0			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:150500857C>A	ENST00000484928.1	+	5	1073	c.492C>A	c.(490-492)ccC>ccA	p.P164P	TMEM176A_ENST00000461345.1_Silent_p.P105P|TMEM176A_ENST00000004103.3_Silent_p.P164P			Q96HP8	T176A_HUMAN	transmembrane protein 176A	164						integral to membrane				breast(1)|endometrium(1)|lung(7)|ovary(2)|stomach(1)	12			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTCCAGCCCCCACTCAGAGTC	0.537													A	150500857	C	A	150500857	2	1	395	1	0	0	0	0	0	0	0	1	16192	581	21	4		4	TMEM176A	7	150500857	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08	53753812	150500857	8637806	11	40534											
RNF32	140545	broad.mit.edu	37	chr7	156447399	156447399	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtaaagaagaattcgAgcttcgtcctcaggtgttta	11	13	9	8	2	2	2	1	0	1	2	5	3	3	2	1	1	1	3	1	1	5	5			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr7:156447399A>G	ENST00000392741.2	+	3	492	c.404A>G	c.(403-405)gAg>gGg	p.E135G	RNF32_ENST00000343665.4_Missense_Mutation_p.E135G|RNF32_ENST00000405335.1_Missense_Mutation_p.E135G|RNF32_ENST00000317955.5_Missense_Mutation_p.E135G|RNF32_ENST00000311822.8_Missense_Mutation_p.E135G|RNF32_ENST00000432459.2_Missense_Mutation_p.E135G|RNF32_ENST00000480011.1_3'UTR|RNF32_ENST00000392743.2_Missense_Mutation_p.E135G|AC005534.8_ENST00000455709.1_RNA			Q9H0A6	RNF32_HUMAN	ring finger protein 32	135						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		GAAGAATTCGAGCTTCGTCCT	0.542													G	156447399	A	G	156447399	3	3	395	1	0	0	0	0	1	0	0	0	13579	304	11	3	414	3	RNF32	7	156447399	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08	5946542	156447399	2691264	12	40535											
POP1	10940	broad.mit.edu	37	chr8	99169863	99169863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggagtagaaaattactgaaGcaactgtcagcctggtgtgg	13	9	13	6	0	1	2	1	1	0	1	1	3	1	3	1	3	4	2	1	3	6	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr8:99169863G>A	ENST00000401707.2	+	16	2520	c.2439G>A	c.(2437-2439)aaG>aaA	p.K813K	POP1_ENST00000349693.3_Silent_p.K813K	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	813					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			AATTACTGAAGCAACTGTCAG	0.488													A	99169863	G	A	99169863	2	1	395	1	0	0	0	0	0	0	0	1	12328	962	34	2		2	POP1	8	99169863	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		99169863	47194159	13	40536											
DOCK8	81704	broad.mit.edu	37	chr9	368171	368171	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacatttgcctcaaatcaggGtgggctgctcacccctgtca	9	10	9	13	0	4	0	4	0	0	0	4	0	4	0	3	2	3	2	3	2	2	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:368171G>C	ENST00000382329.1	+	2	456	c.69G>C	c.(67-69)ggG>ggC	p.G23G	DOCK8_ENST00000453981.1_Intron|DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000432829.2_Intron|DOCK8_ENST00000469391.1_Intron			Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	0					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TCAAATCAGGGTGGGCTGCTC	0.502													C	368171	G	C	368171	2	2	395	1	0	0	0	0	0	0	0	1	4732	1276	44	4		4	DOCK8	9	368171	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08		368171	140845260	14	40537											
PSMD5	5711	broad.mit.edu	37	chr9	123586941	123586941	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggactatccatgacagccagGtttccaaaaaacttcacgaa	15	8	7	11	1	1	1	1	1	0	0	3	3	3	2	3	2	2	1	3	2	5	3			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr9:123586941G>T	ENST00000210313.3	-	7	911	c.837C>A	c.(835-837)aaC>aaA	p.N279K	PSMD5_ENST00000373904.5_Missense_Mutation_p.N236K	NM_001270427.1|NM_005047.3	NP_001257356.1|NP_005038.1	Q16401	PSMD5_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 5	279					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|proteasome regulatory particle assembly|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|prostate(1)	10						TGACAGCCAGGTTTCCAAAAA	0.388													T	123586941	G	T	123586941	3	4	395	1	0	0	0	0	1	0	0	0	12786	1252	44	4	693	4	PSMD5	9	123586941	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	123218770	123586941	17626490	15	40538											
OR52N5	390075	broad.mit.edu	37	chr11	5799221	5799221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacaaatgtcaaacactccaAtcaggagagcaaccattaga	19	6	6	10	0	2	2	2	0	0	2	3	3	3	2	2	1	4	1	2	1	6	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:5799221A>G	ENST00000317093.2	-	1	676	c.644T>C	c.(643-645)aTt>aCt	p.I215T	TRIM5_ENST00000380027.1_Intron	NM_001001922.2	NP_001001922.2	Q8NH56	O52N5_HUMAN	olfactory receptor, family 52, subfamily N, member 5	215					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(1)|lung(17)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.05e-11)|LUSC - Lung squamous cell carcinoma(625;0.112)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.195)		AAACACTCCAATCAGGAGAGC	0.438													G	5799221	A	G	5799221	3	3	395	1	0	0	0	0	1	0	0	0	11206	101	4	3	334	3	OR52N5	11	5799221	Missense_Mutation	SNP	A	TCGA-DU-7294-01A-11D-2024-08		5799221	129207295	16	40539											
TRPC6	7225	broad.mit.edu	37	chr11	101323746	101323746	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctccaagttctctaatAagttctgctaggtcttctgt	7	18	6	10	0	5	0	0	0	5	0	8	0	6	0	1	1	1	3	1	1	4	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:101323746A>G	ENST00000344327.3	-	13	3160	c.2736T>C	c.(2734-2736)ctT>ctC	p.L912L	TRPC6_ENST00000360497.4_Silent_p.L857L|TRPC6_ENST00000532133.1_Silent_p.L834L|TRPC6_ENST00000348423.4_Silent_p.L796L	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	912					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		GTTCTCTAATAAGTTCTGCTA	0.368													G	101323746	A	G	101323746	2	3	395	1	0	0	0	0	0	0	0	1	16684	349	13	3		3	TRPC6	11	101323746	Silent	SNP	A	TCGA-DU-7294-01A-11D-2024-08	95524525	101323746	33682770	17	40540											
GRIK4	2900	broad.mit.edu	37	chr11	120732708	120732708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccttgtggatgatcGtgtcaacatcctgggatttt	8	13	12	8	1	1	1	1	1	0	0	3	4	2	4	2	3	2	0	2	3	1	3	rs137906208	by1000genomes	TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr11:120732708G>T	ENST00000527524.2	+	9	1072	c.785G>T	c.(784-786)cGt>cTt	p.R262L	GRIK4_ENST00000527130.1_3'UTR|GRIK4_ENST00000438375.2_Missense_Mutation_p.R262L	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	262					glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	L-Glutamic Acid(DB00142)	GTGGATGATCGTGTCAACATC	0.483													T	120732708	G	T	120732708	3	4	395	1	0	0	0	0	1	0	0	0	6831	1145	40	4	811	4	GRIK4	11	120732708	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	19408962	120732708	14273808	18	40541											
CLEC7A	64581	broad.mit.edu	37	chr12	10277909	10277909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttaccaattcatttgagCtgtctatctttaggagatta	11	16	6	8	0	3	2	1	1	2	1	3	3	3	2	1	1	2	1	1	1	5	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:10277909C>T	ENST00000353231.5	-	3	499	c.341G>A	c.(340-342)aGc>aAc	p.S114N	CLEC7A_ENST00000396484.2_Missense_Mutation_p.S81N|CLEC7A_ENST00000304084.8_Missense_Mutation_p.S160N|CLEC7A_ENST00000298523.5_Missense_Mutation_p.S114N|CLEC7A_ENST00000533022.1_Missense_Mutation_p.S160N	NM_022570.4	NP_072092.2	Q9BXN2	CLC7A_HUMAN	C-type lectin domain family 7, member A	160					carbohydrate mediated signaling|defense response to protozoan|inflammatory response|innate immune response|phagocytosis, recognition|T cell activation	cytoplasm|integral to membrane	metal ion binding|MHC protein binding|sugar binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						TTCATTTGAGCTGTCTATCTT	0.388													T	10277909	C	T	10277909	3	4	395	1	0	0	0	0	1	0	0	0	3552	797	28	2	276	2	CLEC7A	12	10277909	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08		10277909	123573986	19	40542											
SH2B3	10019	broad.mit.edu	37	chr12	111885211	111885211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgctacccctggttccacGgccccatctccagagtgaaa	8	8	8	17	1	1	2	0	1	1	1	3	2	2	2	7	2	2	2	7	2	2	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr12:111885211G>A	ENST00000341259.2	+	6	1456	c.1099G>A	c.(1099-1101)Ggc>Agc	p.G367S	SH2B3_ENST00000538307.1_Missense_Mutation_p.G165S	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	367	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						CTGGTTCCACGGCCCCATCTC	0.622													A	111885211	G	A	111885211	3	1	395	1	0	0	0	0	1	0	0	0	14322	1116	39	1	1117	1	SH2B3	12	111885211	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	101607302	111885211	21966684	20	40543											
EXD1	161829	broad.mit.edu	37	chr15	41476577	41476577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgagatgtaaaacttGgagctttatctatcctaaaa	14	14	7	6	0	2	1	0	1	2	1	3	3	3	2	1	1	2	2	1	1	6	7			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr15:41476577G>A	ENST00000314992.5	-	10	1287	c.1097C>T	c.(1096-1098)cCa>cTa	p.P366L	EXD1_ENST00000458580.2_Missense_Mutation_p.P424L	NM_152596.2	NP_689809.2	Q8NHP7	EXD1_HUMAN	exonuclease 3'-5' domain containing 1	366					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding			large_intestine(5)|liver(1)|lung(4)|ovary(2)|prostate(2)|skin(2)	16						TGTAAAACTTGGAGCTTTATC	0.378													A	41476577	G	A	41476577	3	1	395	1	0	0	0	0	1	0	0	0	5338	1348	47	2	451	2	EXD1	15	41476577	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		41476577	61054815	21	40544											
CAPNS2	84290	broad.mit.edu	37	chr16	55600782	55600782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggaagaaatattggAgggatagttggaggaattgt	14	9	18	0	0	0	1	0	0	0	1	0	8	0	8	0	7	0	1	0	7	5	5			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr16:55600782A>G	ENST00000457326.2	+	1	199	c.114A>G	c.(112-114)ggA>ggG	p.G38G	LPCAT2_ENST00000262134.5_Intron|LPCAT2_ENST00000565056.1_Intron	NM_032330.1	NP_115706.1	Q96L46	CPNS2_HUMAN	calpain, small subunit 2	38	Gly-rich.					cytoplasm|plasma membrane	calcium ion binding			central_nervous_system(1)|large_intestine(1)|lung(3)|prostate(2)	7						GAAATATTGGAGGGATAGTTG	0.507													G	55600782	A	G	55600782	2	3	395	1	0	0	0	0	0	0	0	1	2660	291	11	3		3	CAPNS2	16	55600782	Silent	SNP	A	TCGA-DU-7294-01A-11D-2024-08		55600782	34753971	22	40545											
FOXJ1	2302	broad.mit.edu	37	chr17	74136327	74136327	+	Frame_Shift_Del	DEL	G	G	-																															gtgccccccgggggcagggcGggggccttggcgttgagaat																										TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr17:74136327delG	ENST00000322957.6	-	2	504	c.150delC	c.(148-150)cccfs	p.P50fs		NM_001454.3	NP_001445.2	Q92949	FOXJ1_HUMAN	forkhead box J1	50					actin cytoskeleton organization|activation of Rho GTPase activity|central tolerance induction|cilium assembly|epithelial cell differentiation|establishment of apical/basal cell polarity|heart looping|humoral immune response|left/right pattern formation|leukocyte migration|lung development|negative regulation of B cell activation|negative regulation of germinal center formation|negative regulation of humoral immune response mediated by circulating immunoglobulin|negative regulation of interleukin-6 biosynthetic process|negative regulation of NF-kappaB transcription factor activity|negative regulation of T cell differentiation in thymus|negative regulation of T cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of central B cell tolerance induction|spermatogenesis	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(1)|liver(1)|pancreas(1)|skin(1)	4			LUSC - Lung squamous cell carcinoma(166;0.187)			GGGGCAGGGCGGGGGCCTTGG	0.756													-	74136327	G	-	74136327	7	5	395	1	0	1	0	1	0	0	0	0	6062	1103	39	0	1123	0	FOXJ1	17	74136327	Frame_Shift_Del	DEL	G	TCGA-DU-7294-01A-11D-2024-08		74136327	7058883	23	40546											
CABLES1	91768	broad.mit.edu	37	chr18	20837289	20837289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccacttgcccgagcaCgaagtcatgccccactacag	9	6	8	18	2	1	0	1	0	0	0	2	2	2	0	5	0	4	1	5	0	2	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr18:20837289C>T	ENST00000256925.7	+	10	1860	c.1860C>T	c.(1858-1860)caC>caT	p.H620H	RP11-17J14.2_ENST00000585184.1_RNA|TMEM241_ENST00000450466.2_Intron|CABLES1_ENST00000585061.1_Intron|CABLES1_ENST00000420687.2_Silent_p.H355H|CABLES1_ENST00000400473.2_Silent_p.H293H	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	620					blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGCCCGAGCACGAAGTCATGC	0.557													T	20837289	C	T	20837289	2	4	395	1	0	0	0	0	0	0	0	1	2555	535	19	1		1	CABLES1	18	20837289	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08		20837289	57239959	24	40547											
SMARCA4	6597	broad.mit.edu	37	chr19	11141525	11141525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggcctgaacctccagtcgGcagacactgtgatcattttt	8	12	9	12	2	1	3	1	2	0	1	4	3	2	3	3	2	1	1	3	2	1	2			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:11141525G>C	ENST00000358026.2	+	25	3786	c.3502G>C	c.(3502-3504)Gca>Cca	p.A1168P	SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1168P|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1168P|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1168P|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1168P	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1168	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTCCAGTCGGCAGACACTGT	0.607			"F, N, Mis"		NSCLC								C	11141525	G	C	11141525	3	2	395	1	0	0	0	0	1	0	0	0	14864	1203	42	4	3596	4	SMARCA4	19	11141525	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		11141525	47987458	25	40548											
CD22	933	broad.mit.edu	37	chr19	35832001	35832001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctgcgcagcttgtaatagTtggtgctcgtgggcctcccc	4	11	13	13	2	0	0	0	0	0	0	2	0	1	0	4	2	3	5	4	2	2	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:35832001T>C	ENST00000085219.5	+	7	1533	c.1467T>C	c.(1465-1467)agT>agC	p.S489S	CD22_ENST00000594250.1_Silent_p.S312S|CD22_ENST00000419549.2_Silent_p.S317S|CD22_ENST00000341773.6_Silent_p.S312S|CD22_ENST00000544992.2_Silent_p.S489S|CD22_ENST00000270311.6_Silent_p.S369S|CD22_ENST00000536635.2_Silent_p.S401S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	489	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTTGTAATAGTTGGTGCTCGT	0.622													C	35832001	T	C	35832001	2	2	395	1	0	0	0	0	0	0	0	1	3015	1722	60	3		3	CD22	19	35832001	Silent	SNP	T	TCGA-DU-7294-01A-11D-2024-08	24690476	35832001	23296982	26	40549											
CIC	23152	broad.mit.edu	37	chr19	42791815	42791815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaccgtcagcaagatccTgggcgagtggtggtatgccc	7	7	15	12	3	1	1	1	0	0	1	2	3	2	2	4	4	2	2	4	4	2	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:42791815T>A	ENST00000572681.2	+	6	3496	c.3428T>A	c.(3427-3429)cTg>cAg	p.L1143Q	CIC_ENST00000160740.3_Missense_Mutation_p.L234Q|CIC_ENST00000575354.2_Missense_Mutation_p.L234Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	234	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.I233_L234>M(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAAGATCCTGGGCGAGTGG	0.617			"Mis, F, S"		oligodendroglioma								A	42791815	T	A	42791815	3	1	395	1	0	0	0	0	1	0	0	0	3454	1580	55	5	719	5	CIC	19	42791815	Missense_Mutation	SNP	T	TCGA-DU-7294-01A-11D-2024-08	6959814	42791815	16337168	27	40550											
DMPK	1760	broad.mit.edu	37	chr19	46275947	46275947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctgggcgcttgcacGtgtggctcaagcagctgctc	5	9	14	13	2	1	0	1	0	0	0	3	0	2	0	1	3	4	7	1	3	1	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr19:46275947G>A	ENST00000600757.1	-	9	1998	c.1311C>T	c.(1309-1311)caC>caT	p.H437H	DMPK_ENST00000354227.5_Silent_p.H427H|DMPK_ENST00000291270.4_Silent_p.H432H|DMPK_ENST00000447742.2_Silent_p.H427H|DMPK_ENST00000458663.2_Silent_p.H427H|DMPK_ENST00000343373.4_Silent_p.H442H			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	442					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		GCGCTTGCACGTGTGGCTCAA	0.632													A	46275947	G	A	46275947	2	1	395	1	0	0	0	0	0	0	0	1	4623	1136	40	1		1	DMPK	19	46275947	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	3484132	46275947	12853036	28	40551											
GGT7	2686	broad.mit.edu	37	chr20	33439058	33439058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggccgctgaggccccgCgcagctccattggcccccag	5	5	13	18	3	1	1	1	1	0	0	2	1	2	1	6	3	1	3	6	3	0	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:33439058C>T	ENST00000336431.5	-	13	1745	c.1701G>A	c.(1699-1701)gcG>gcA	p.A567A	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	567					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TGAGGCCCCGCGCAGCTCCAT	0.637													T	33439058	C	T	33439058	2	4	395	1	0	0	0	0	0	0	0	1	6420	755	27	1		1	GGT7	20	33439058	Silent	SNP	C	TCGA-DU-7294-01A-11D-2024-08		33439058	29586462	29	40552											
WFDC9	259240	broad.mit.edu	37	chr20	44237304	44237304	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccccaaccaactcactcGttgtctaagcagatgtttcc	10	10	5	16	1	2	1	1	0	1	1	4	1	3	1	5	0	3	3	5	0	3	3			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr20:44237304G>A	ENST00000326000.1	-	4	454	c.237C>T	c.(235-237)aaC>aaT	p.N79N		NM_147198.3	NP_671731.1	Q8NEX5	WFDC9_HUMAN	WAP four-disulfide core domain 9	79						extracellular region				breast(1)|large_intestine(1)|liver(1)|lung(1)|prostate(1)|stomach(1)	6		Myeloproliferative disorder(115;0.0122)				CAACTCACTCGTTGTCTAAGC	0.463													A	44237304	G	A	44237304	2	1	395	1	0	0	0	0	0	0	0	1	17459	1136	40	1		1	WFDC9	20	44237304	Silent	SNP	G	TCGA-DU-7294-01A-11D-2024-08	10798246	44237304	18788216	30	40553											
COL6A2	1292	broad.mit.edu	37	chr21	47549370	47549370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgcacagggacatcGtgggggaccccgagaccgcg	8	4	17	12	4	0	1	0	0	0	1	1	4	0	3	3	4	2	2	3	4	0	0			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr21:47549370G>A	ENST00000357838.4	+	28	2804	c.2722G>A	c.(2722-2724)Gtg>Atg	p.V908M	COL6A2_ENST00000409416.1_3'UTR|COL6A2_ENST00000310645.5_3'UTR|COL6A2_ENST00000397763.1_Missense_Mutation_p.V908M|COL6A2_ENST00000300527.4_Intron	NM_058174.2	NP_478054.2	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	0	Nonhelical region.|VWFA 3.				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGGGACATCGTGGGGGACCC	0.687													A	47549370	G	A	47549370	3	1	395	1	0	0	0	0	1	0	0	0	3731	1145	40	1	2858	1	COL6A2	21	47549370	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		47549370	580525	31	40554											
CARD10	29775	broad.mit.edu	37	chr22	37900249	37900249	+	Frame_Shift_Del	DEL	G	G	-																															cggaggatggagccggcactGggggggaagggcaggatgga																										TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chr22:37900249delG	ENST00000403299.1	-	10	1794	c.1578delC	c.(1576-1578)cccfs	p.P526fs	CARD10_ENST00000406271.3_Frame_Shift_Del_p.P240fs|CARD10_ENST00000251973.5_Frame_Shift_Del_p.P526fs			Q9BWT7	CAR10_HUMAN	caspase recruitment domain family, member 10	526					activation of NF-kappaB-inducing kinase activity|protein complex assembly|regulation of apoptosis	CBM complex	receptor signaling complex scaffold activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	17	Melanoma(58;0.0574)					AGCCGGCACTGGGGGGGAAGG	0.642													-	37900249	G	-	37900249	7	5	395	1	0	1	0	1	0	0	0	0	2670	1335	47	0	1568	0	CARD10	22	37900249	Frame_Shift_Del	DEL	G	TCGA-DU-7294-01A-11D-2024-08		37900249	13404317	32	40555											
TLR7	51284	broad.mit.edu	37	chrX	12904193	12904193	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgttattatcgaaatccttGttatgtttcatattcaatag	11	19	5	6	1	2	0	2	0	0	0	4	1	3	0	1	0	0	3	1	0	7	8			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:12904193G>C	ENST00000380659.3	+	3	705	c.566G>C	c.(565-567)tGt>tCt	p.C189S		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	189					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CGAAATCCTTGTTATGTTTCA	0.383													C	12904193	G	C	12904193	3	2	395	1	0	0	0	0	1	0	0	0	16056	1377	48	4	572	4	TLR7	23	12904193	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08		12904193	142366367	33	40556											
ZNF157	7712	broad.mit.edu	37	chrX	47269681	47269681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgttattacaggggtccGtgtcattcgaggatgtggct	7	14	14	6	2	1	0	1	0	0	0	3	3	2	1	1	4	1	2	1	4	2	4			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:47269681G>A	ENST00000377073.3	+	2	165	c.79G>A	c.(79-81)Gtg>Atg	p.V27M		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	27	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ACAGGGGTCCGTGTCATTCGA	0.483													A	47269681	G	A	47269681	3	1	395	1	0	0	0	0	1	0	0	0	17838	1145	40	1	85	1	ZNF157	23	47269681	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	34365488	47269681	108000879	34	40557											
MAGEE2	139599	broad.mit.edu	37	chrX	75004654	75004654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaccctgagcgcccccaaaCgtctggactgctcgtcgatc	7	7	11	16	4	1	1	0	1	1	0	4	4	1	3	3	2	3	1	3	2	1	0			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:75004654C>T	ENST00000373359.2	-	1	425	c.233G>A	c.(232-234)cGt>cAt	p.R78H		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	78										autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CGCCCCCAAACGTCTGGACTG	0.557													T	75004654	C	T	75004654	3	4	395	1	0	0	0	0	1	0	0	0	9261	536	19	1	1342	1	MAGEE2	23	75004654	Missense_Mutation	SNP	C	TCGA-DU-7294-01A-11D-2024-08	27734973	75004654	80265906	35	40558											
HDX	139324	broad.mit.edu	37	chrX	83616611	83616611	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggtcactgaactgagtgcGgtcctgtagctgaaaaacac	11	9	11	10	2	1	3	1	3	0	0	3	3	2	3	1	2	4	2	1	2	4	1			TCGA-DU-7294-01A-11D-2024-08	TCGA-DU-7294-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b576b3bd-8c8b-4b42-bb6e-de38b2e326a5	f68fc265-8b53-451d-b684-8e541d074aeb	g.chrX:83616611G>T	ENST00000297977.5	-	5	1426	c.1315C>A	c.(1315-1317)Cgc>Agc	p.R439S	HDX_ENST00000373177.2_Missense_Mutation_p.R439S|HDX_ENST00000506585.2_Missense_Mutation_p.R381S	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	439						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AACTGAGTGCGGTCCTGTAGC	0.378													T	83616611	G	T	83616611	3	4	395	1	0	0	0	0	1	0	0	0	7081	1116	39	4	781	4	HDX	23	83616611	Missense_Mutation	SNP	G	TCGA-DU-7294-01A-11D-2024-08	8611957	83616611	71653949	36	40559											
CROCC	9696	broad.mit.edu	37	chr1	17250936	17250936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccagagccgtgccgagcgcGatgagctcgccattaagtac	9	6	12	14	5	0	2	0	1	0	1	1	4	0	2	4	0	5	2	4	0	2	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:17250936G>A	ENST00000375541.5	+	3	382	c.313G>A	c.(313-315)Gat>Aat	p.D105N	CROCC_ENST00000467938.1_Intron	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	105					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		TGCCGAGCGCGATGAGCTCGC	0.652													A	17250936	G	A	17250936	3	1	396	1	0	0	0	0	1	0	0	0	3924	1058	37	1	323	1	CROCC	1	17250936	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08		17250936	231999685	1	40560											
TMCO4	255104	broad.mit.edu	37	chr1	20073705	20073705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctatcaggagataacgCttccatttcctccggttttc	8	13	8	12	2	1	1	1	0	0	1	5	2	4	1	4	3	1	2	4	3	2	6			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:20073705C>T	ENST00000294543.6	-	8	805	c.564G>A	c.(562-564)aaG>aaA	p.K188K	TMCO4_ENST00000375127.1_Silent_p.K188K|TMCO4_ENST00000375122.2_Silent_p.K188K	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4	188						integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		GGAGATAACGCTTCCATTTCC	0.547													T	20073705	C	T	20073705	2	4	396	1	0	0	0	0	0	0	0	1	16098	796	28	2		2	TMCO4	1	20073705	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	2822769	20073705	229176916	2	40561											
AIM1L	55057	broad.mit.edu	37	chr1	26650673	26650673	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agcagcccatcctcgtagtaCcagatgcagctacctccagc	10	7	8	16	1	0	1	0	0	0	1	3	1	2	1	5	0	7	5	5	0	3	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:26650673C>T	ENST00000527815.1	-	17	2134	c.2085G>A	c.(2083-2085)tgG>tgA	p.W695*	AIM1L_ENST00000308182.5_Nonsense_Mutation_p.W524*	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	524							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CCTCGTAGTACCAGATGCAGC	0.622													T	26650673	C	T	26650673	4	4	396	1	0	0	0	0	0	1	0	0	431	508	18	2	290	2	AIM1L	1	26650673	Nonsense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	6576968	26650673	222599948	3	40562											
SLC5A9	200010	broad.mit.edu	37	chr1	48703490	48703490	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccgctctcttcctgctgGccatcttctgcaagagggtc	5	12	9	15	1	4	1	1	0	3	1	7	1	5	1	3	2	2	3	3	2	1	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:48703490G>C	ENST00000236495.5	+	12	1557	c.1507G>C	c.(1507-1509)Gcc>Ccc	p.A503P	SLC5A9_ENST00000438567.2_Missense_Mutation_p.A478P|SLC5A9_ENST00000533824.1_Missense_Mutation_p.A499P	NM_001135181.1	NP_001128653.1	Q2M3M2	SC5A9_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 9	478						integral to membrane|plasma membrane	low-affinity glucose:sodium symporter activity			breast(1)|endometrium(3)|large_intestine(4)|liver(2)|lung(11)|ovary(3)|prostate(1)|urinary_tract(1)	26						CTTCCTGCTGGCCATCTTCTG	0.572													C	48703490	G	C	48703490	3	2	396	1	0	0	0	0	1	0	0	0	14766	1203	42	4	1553	4	SLC5A9	1	48703490	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	22052817	48703490	200547131	4	40563											
TYW3	127253	broad.mit.edu	37	chr1	75204387	75204387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttagattgtagctctgaAgaaagcaaatggtgatgcca	14	12	10	5	0	1	4	0	2	1	2	1	4	1	4	1	1	3	3	1	1	6	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:75204387A>G	ENST00000370867.3	+	3	358	c.269A>G	c.(268-270)aAg>aGg	p.K90R	TYW3_ENST00000421739.2_Intron|TYW3_ENST00000457880.2_Intron|TYW3_ENST00000479111.1_5'UTR	NM_138467.2	NP_612476.1	Q6IPR3	TYW3_HUMAN	tRNA-yW synthesizing protein 3 homolog (S. cerevisiae)	90					tRNA processing		methyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(7)|ovary(2)|prostate(1)|skin(1)	15						GTAGCTCTGAAGAAAGCAAAT	0.383													G	75204387	A	G	75204387	3	3	396	1	0	0	0	0	1	0	0	0	16922	72	3	3	279	3	TYW3	1	75204387	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08	26500897	75204387	174046234	5	40564											
BLZF1	8548	broad.mit.edu	37	chr1	169346051	169346051	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaaatacaaaggttaagtCtctgggacatcataaaggag	18	8	9	6	0	2	0	1	0	1	0	3	2	2	2	0	3	1	1	0	3	7	3	rs143882259	byFrequency	TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:169346051C>G	ENST00000367808.3	+	3	725	c.302C>G	c.(301-303)tCt>tGt	p.S101C	BLZF1_ENST00000329281.2_Missense_Mutation_p.S101C|BLZF1_ENST00000367807.3_Missense_Mutation_p.S101C			Q9H2G9	GO45_HUMAN	basic leucine zipper nuclear factor 1	101					cell proliferation|Golgi organization|Golgi to plasma membrane protein transport|regulation of cell growth|regulation of transcription from RNA polymerase II promoter	Golgi lumen|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(1)|skin(1)	14	all_hematologic(923;0.208)					AAGGTTAAGTCTCTGGGACAT	0.373													G	169346051	C	G	169346051	3	3	396	1	0	0	0	0	1	0	0	0	1459	913	32	4	308	4	BLZF1	1	169346051	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	94141664	169346051	79904570	6	40565											
USH2A	7399	broad.mit.edu	37	chr1	216496989	216496989	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggacgataatttggtccAggtgtcaggatgctaaatgt	11	11	12	7	1	1	0	1	0	0	0	2	3	2	2	2	4	1	1	2	4	3	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr1:216496989A>C	ENST00000366943.2	-	8	1763	c.1377T>G	c.(1375-1377)ccT>ccG	p.P459P	USH2A_ENST00000307340.3_Silent_p.P459P|USH2A_ENST00000366942.3_Silent_p.P459P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	459	Laminin N-terminal.				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)		AATTTGGTCCAGGTGTCAGGA	0.373										HNSCC(13;0.011)			C	216496989	A	C	216496989	2	2	396	1	0	0	0	0	0	0	0	1	17138	175	7	5		5	USH2A	1	216496989	Silent	SNP	A	TCGA-DU-7298-01A-11D-2024-08	47150938	216496989	32753632	7	40566											
CAD	790	broad.mit.edu	37	chr2	27456961	27456961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggagaatgcaggtgtgcattCaggtgatgcgacgctggtga	9	9	17	6	2	1	3	1	2	0	1	1	5	1	3	0	4	3	3	0	4	1	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:27456961C>T	ENST00000264705.4	+	22	3647	c.3485C>T	c.(3484-3486)tCa>tTa	p.S1162L	CAD_ENST00000403525.1_Missense_Mutation_p.S1099L	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1162	ATP-grasp 2.|CPSase (Carbamoyl-phosphate synthase).|CPSase B.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	GGTGTGCATTCAGGTGATGCG	0.587													T	27456961	C	T	27456961	3	4	396	1	0	0	0	0	1	0	0	0	2591	838	29	2	3571	2	CAD	2	27456961	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08		27456961	215742412	8	40567											
XDH	7498	broad.mit.edu	37	chr2	31588394	31588394	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcacggtccagcatgcatcGcacagggcggccggtcctgg	7	6	14	14	4	1	0	1	0	0	0	4	0	3	0	3	5	2	3	3	5	0	0			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:31588394G>A	ENST00000379416.3	-	23	2521	c.2473C>T	c.(2473-2475)Cga>Tga	p.R825*		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	825					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	p.R825*(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AGCATGCATCGCACAGGGCGG	0.572													A	31588394	G	A	31588394	4	1	396	1	0	0	0	0	0	1	0	0	17528	1095	38	1	1584	1	XDH	2	31588394	Nonsense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	4131433	31588394	211610979	9	40568											
POTEE	445582	broad.mit.edu	37	chr2	132021756	132021756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccgagcgggaaatcgtgCgtgacatcaaagagaagctg	12	6	15	8	4	1	2	1	1	0	1	2	5	1	3	1	2	3	1	1	2	3	0			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:132021756C>T	ENST00000356920.5	+	15	2822	c.2728C>T	c.(2728-2730)Cgt>Tgt	p.R910C	POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	910	Actin-like.						ATP binding	p.R910G(1)									GGAAATCGTGCGTGACATCAA	0.602													T	132021756	C	T	132021756	3	4	396	1	0	0	0	0	1	0	0	0	12341	768	27	1	2786	1	POTEE	2	132021756	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	100433362	132021756	111177617	10	40569											
ZEB2	9839	broad.mit.edu	37	chr2	145157730	145157730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattgtttctcattcggcCatttacagagattaaaccaa	13	14	6	8	1	1	1	1	0	1	1	3	3	1	1	2	1	2	1	2	1	5	7			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr2:145157730C>G	ENST00000558170.2	-	8	2208	c.1024G>C	c.(1024-1026)Ggc>Cgc	p.G342R	ZEB2_ENST00000409487.3_Missense_Mutation_p.G342R|ZEB2_ENST00000539609.3_Missense_Mutation_p.G318R|ZEB2_ENST00000303660.4_Missense_Mutation_p.G342R	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	342						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CTCATTCGGCCATTTACAGAG	0.413													G	145157730	C	G	145157730	3	3	396	1	0	0	0	0	1	0	0	0	17725	594	21	4	2632	4	ZEB2	2	145157730	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	13135974	145157730	98041643	11	40570											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	396	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	63955382	209113112	34086261	12	40571											
CNOT10	25904	broad.mit.edu	37	chr3	32754815	32754815	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcttcttgctgtcctagAaaaaatgatttcacagggta	12	13	8	8	0	3	2	1	1	2	1	4	2	4	2	1	1	1	3	1	1	5	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:32754815A>G	ENST00000328834.5	+	5	843	c.527A>G	c.(526-528)gAa>gGa	p.E176G	CNOT10_ENST00000331889.6_Missense_Mutation_p.E176G|CNOT10_ENST00000454516.2_Missense_Mutation_p.E236G|CNOT10_ENST00000538368.1_Intron	NM_015442.2	NP_056257.1	Q9H9A5	CNOTA_HUMAN	CCR4-NOT transcription complex, subunit 10	176					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(3)	23						GCTGTCCTAGAAAAAATGATT	0.348													G	32754815	A	G	32754815	3	3	396	1	0	0	0	0	1	0	0	0	3649	246	9	3	545	3	CNOT10	3	32754815	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		32754815	165267615	13	40572											
OR5K2	402135	broad.mit.edu	37	chr3	98217294	98217294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctatggatctattttttTcctatacattagaccaaatt	12	19	3	7	0	2	1	0	0	2	1	3	2	3	2	2	1	1	0	2	1	6	10			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:98217294T>C	ENST00000427338.1	+	1	847	c.770T>C	c.(769-771)tTc>tCc	p.F257S	CLDND1_ENST00000502288.1_Intron	NM_001004737.1	NP_001004737.1	Q8NHB8	OR5K2_HUMAN	olfactory receptor, family 5, subfamily K, member 2	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(1)|lung(10)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TCTATTTTTTTCCTATACATT	0.333													C	98217294	T	C	98217294	3	2	396	1	0	0	0	0	1	0	0	0	11243	1783	62	3	772	3	OR5K2	3	98217294	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	65462479	98217294	99805136	14	40573											
NFKBIZ	64332	broad.mit.edu	37	chr3	101572700	101572700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcaaaggatgcagatGgtgacacgtgagtattcttt	10	15	10	6	1	3	3	1	2	2	1	3	4	3	4	0	2	1	2	0	2	2	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:101572700G>T	ENST00000326172.5	+	5	1445	c.1330G>T	c.(1330-1332)Ggt>Tgt	p.G444C	NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G322C|NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G344C	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	444	Interaction with NFKB1/p50 (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						GGATGCAGATGGTGACACGTG	0.388													T	101572700	G	T	101572700	3	4	396	1	0	0	0	0	1	0	0	0	10459	1348	47	4	1348	4	NFKBIZ	3	101572700	Missense_Mutation	SNP	G	TCGA-DU-7298-01A-11D-2024-08	3355406	101572700	96449730	15	40574											
ALG1L2	644974	broad.mit.edu	37	chr3	129817127	129817127	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctaaaccagttccggAagaacctgcgggagtcgcag	12	5	13	11	3	0	1	0	0	0	1	2	3	1	3	3	2	4	4	3	2	5	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522													C	129817127	A	C	129817127	1	2	396	0	1	0	0	0	0	0	0	0	518	261	9	5		5	ALG1L2	3	129817127	RNA	SNP	A	TCGA-DU-7298-01A-11D-2024-08	28244427	129817127	68205303	16	40575											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	12	13	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs121913274		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr3:178936092A>C	ENST00000263967.3	+	10	1791	c.1634A>C	c.(1633-1635)gAg>gCg	p.E545A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178936092	A	C	178936092	3	2	396	1	0	0	0	0	1	0	0	0	11990	304	11	5	1668	5	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08	49118965	178936092	19086338	17	40576											
EPHA5	2044	broad.mit.edu	37	chr4	66361196	66361196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcctcatgggtataacTgtgaggtggacatttgccgc	8	12	12	9	1	1	1	1	1	0	0	2	2	2	2	2	3	3	2	2	3	2	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:66361196T>C	ENST00000273854.3	-	4	1576	c.976A>G	c.(976-978)Agt>Ggt	p.S326G	EPHA5_ENST00000511294.1_Missense_Mutation_p.S326G|EPHA5_ENST00000354839.4_Missense_Mutation_p.S326G|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	326	Cys-rich.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGGTATAACTGTGAGGTGGA	0.463										TSP Lung(17;0.13)			C	66361196	T	C	66361196	3	2	396	1	0	0	0	0	1	0	0	0	5211	1580	55	3	2197	3	EPHA5	4	66361196	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08		66361196	124793080	18	40577											
ADH1C	126	broad.mit.edu	37	chr4	100260814	100260814	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttattaatgcatccagtgaAaacttcttagccataaagtc	14	13	6	8	0	1	1	0	1	1	0	3	1	2	1	2	0	3	2	2	0	7	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:100260814A>T	ENST00000515683.1	-	0	1374					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATCCAGTGAAAACTTCTTAG	0.328													T	100260814	A	T	100260814	1	4	396	0	1	0	0	0	0	0	0	0	309	11	1	5		5	ADH1C	4	100260814	RNA	SNP	A	TCGA-DU-7298-01A-11D-2024-08	33899618	100260814	90893462	19	40578											
PRDM5	11107	broad.mit.edu	37	chr4	121631494	121631494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggcttttctccagtgtgCgtcctcttgtgctcatccag	6	14	9	12	1	3	0	1	0	2	0	6	0	5	0	3	1	2	2	3	1	1	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr4:121631494C>T	ENST00000264808.3	-	15	1938	c.1698G>A	c.(1696-1698)acG>acA	p.T566T	PRDM5_ENST00000506065.1_5'UTR|PRDM5_ENST00000515109.1_3'UTR|PRDM5_ENST00000428209.2_Silent_p.T535T	NM_018699.2	NP_061169.2	Q9NQX1	PRDM5_HUMAN	PR domain containing 5	566					histone deacetylation|histone H3-K9 methylation|mitotic cell cycle|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	repressing transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(17)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCAGTGTGCGTCCTCTTGT	0.488													T	121631494	C	T	121631494	2	4	396	1	0	0	0	0	0	0	0	1	12546	755	27	1		1	PRDM5	4	121631494	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	21370680	121631494	69522782	20	40579											
PDZD2	23037	broad.mit.edu	37	chr5	32089975	32089975	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggtcgcagaatcatccAcaagtcatccatcctcactc	11	8	6	16	1	3	1	3	0	0	1	8	1	6	1	4	1	0	1	4	1	2	0			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:32089975A>G	ENST00000438447.1	+	20	6809	c.6421A>G	c.(6421-6423)Aca>Gca	p.T2141A	PDZD2_ENST00000282493.3_Missense_Mutation_p.T2141A			O15018	PDZD2_HUMAN	PDZ domain containing 2	2141	Ser-rich.				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						AGAATCATCCACAAGTCATCC	0.562													G	32089975	A	G	32089975	3	3	396	1	0	0	0	0	1	0	0	0	11777	159	6	3	6495	3	PDZD2	5	32089975	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		32089975	148825285	21	40580											
ADAMTS19	171019	broad.mit.edu	37	chr5	129039955	129039955	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtcaagtgtggcaaaggCatacgtcatcggaccgttag	11	9	12	9	3	3	0	3	0	0	0	4	1	3	1	1	3	1	3	1	3	4	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:129039955C>A	ENST00000274487.4	+	21	3310	c.3165C>A	c.(3163-3165)ggC>ggA	p.G1055G	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1055	TSP type-1 4.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GTGGCAAAGGCATACGTCATC	0.428													A	129039955	C	A	129039955	2	1	396	1	0	0	0	0	0	0	0	1	264	697	25	4		4	ADAMTS19	5	129039955	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	96949980	129039955	51875305	22	40581											
RAD50	10111	broad.mit.edu	37	chr5	131930714	131930714	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggcttaaagaggaaatTgaaaaatcatcaaaacagcg	20	6	9	6	1	2	2	2	1	0	1	2	4	2	3	0	2	2	1	0	2	7	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:131930714T>A	ENST00000378823.3	+	12	2348	c.1530T>A	c.(1528-1530)atT>atA	p.I510I	RAD50_ENST00000265335.6_Silent_p.I649I	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	649					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			AAGAGGAAATTGAAAAATCAT	0.368								Homologous recombination					A	131930714	T	A	131930714	2	1	396	1	0	0	0	0	0	0	0	1	13072	1800	63	5		5	RAD50	5	131930714	Silent	SNP	T	TCGA-DU-7298-01A-11D-2024-08	2890759	131930714	48984546	23	40582											
PCDHA5	56143	broad.mit.edu	37	chr5	140203383	140203383	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtggaaagtggccaggcgCcgaaggcctcatcgcgggcg	7	5	18	11	5	1	0	1	0	0	0	2	2	1	1	3	6	0	0	3	6	2	0			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:140203383C>G	ENST00000529859.1	+	1	2023	c.2023C>G	c.(2023-2025)Ccg>Gcg	p.P675A	PCDHA5_ENST00000529619.1_Missense_Mutation_p.P675A|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000378126.3_Missense_Mutation_p.P675A|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCCAGGCGCCGAAGGCCTC	0.672													G	140203383	C	G	140203383	3	3	396	1	0	0	0	0	1	0	0	0	11603	739	26	4	2025	4	PCDHA5	5	140203383	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	8272669	140203383	40711877	24	40583											
HAVCR1	26762	broad.mit.edu	37	chr5	156482407	156482407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggttccattggtccagaCaatgccattttggcatgtga	8	13	12	8	0	0	2	0	1	0	1	2	2	2	2	3	3	1	2	3	3	1	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr5:156482407C>G	ENST00000339252.3	-	2	716	c.184G>C	c.(184-186)Gtc>Ctc	p.V62L	HAVCR1_ENST00000522693.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000425854.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000523175.1_Missense_Mutation_p.V62L|HAVCR1_ENST00000544197.1_Missense_Mutation_p.V62L	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	62	Ig-like V-type.				interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTGGTCCAGACAATGCCATTT	0.478													G	156482407	C	G	156482407	3	3	396	1	0	0	0	0	1	0	0	0	7028	478	17	4	938	4	HAVCR1	5	156482407	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	16279024	156482407	24432853	25	40584											
RIPK1	8737	broad.mit.edu	37	chr6	3105782	3105782	+	Frame_Shift_Del	DEL	G	G	-																															gggtcctgtggaggagtcctGgtttgctccttccctggagc																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:3105782delG	ENST00000259808.4	+	9	1371	c.1073delG	c.(1072-1074)tggfs	p.W358fs	RIPK1_ENST00000541791.1_Frame_Shift_Del_p.W312fs|RIPK1_ENST00000380409.2_Frame_Shift_Del_p.W358fs|RIPK1_ENST00000479389.1_3'UTR			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	358	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				GAGGAGTCCTGGTTTGCTCCT	0.527													-	3105782	G	-	3105782	7	5	396	1	0	1	0	1	0	0	0	0	13471	1357	47	0	1103	0	RIPK1	6	3105782	Frame_Shift_Del	DEL	G	TCGA-DU-7298-01A-11D-2024-08		3105782	168009285	26	40585											
KIF13A	63971	broad.mit.edu	37	chr6	17764345	17764345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacagttagacatactcatTgacagcacagaacccaaaag	18	7	6	10	0	1	3	1	1	0	2	1	3	1	3	1	0	4	2	1	0	6	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:17764345T>C	ENST00000259711.6	-	39	5519	c.5414A>G	c.(5413-5415)cAa>cGa	p.Q1805R	KIF13A_ENST00000378843.2_Missense_Mutation_p.Q1757R|KIF13A_ENST00000378826.2_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378816.5_Missense_Mutation_p.Q1770R|KIF13A_ENST00000378814.5_Intron	NM_022113.5	NP_071396.4	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	1805					cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			ACATACTCATTGACAGCACAG	0.493													C	17764345	T	C	17764345	3	2	396	1	0	0	0	0	1	0	0	0	8332	1812	63	3	32	3	KIF13A	6	17764345	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	14658563	17764345	153350722	27	40586											
REV3L	5980	broad.mit.edu	37	chr6	111695954	111695954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtttcttttttccatcatCtactagtttatttgtctgat	6	23	5	7	0	4	1	1	1	3	0	5	1	5	1	1	1	1	2	1	1	3	9	rs61756663		TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr6:111695954C>G	ENST00000435970.1	-	15	4186	c.3370G>C	c.(3370-3372)Gat>Cat	p.D1124H	REV3L_ENST00000368805.1_Missense_Mutation_p.D1202H|REV3L_ENST00000358835.3_Missense_Mutation_p.D1202H|REV3L_ENST00000368802.3_Missense_Mutation_p.D1202H			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1202					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TTTCCATCATCTACTAGTTTA	0.333								DNA polymerases (catalytic subunits)					G	111695954	C	G	111695954	3	3	396	1	0	0	0	0	1	0	0	0	13328	913	32	4	5868	4	REV3L	6	111695954	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	93931609	111695954	59419113	28	40587											
SCIN	85477	broad.mit.edu	37	chr7	12668832	12668832	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacacctatcccagaggacAgattatctacacgtggtgag	12	9	9	11	1	1	3	0	1	1	2	2	4	2	4	2	2	2	0	2	2	4	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:12668832A>T	ENST00000297029.5	+	9	1405	c.1304A>T	c.(1303-1305)cAg>cTg	p.Q435L	SCIN_ENST00000445618.2_Missense_Mutation_p.Q188L|SCIN_ENST00000519209.1_Missense_Mutation_p.Q188L	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin	435	Ca(2+)-dependent actin binding.				actin filament capping|actin filament severing|actin nucleation|calcium ion-dependent exocytosis|negative regulation of cell proliferation|positive regulation of apoptosis|positive regulation of megakaryocyte differentiation|positive regulation of secretion|regulation of chondrocyte differentiation	cell cortex|cytoskeleton	1-phosphatidylinositol binding|actin filament binding|calcium ion binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CCCAGAGGACAGATTATCTAC	0.413													T	12668832	A	T	12668832	3	4	396	1	0	0	0	0	1	0	0	0	13998	188	7	5	1338	5	SCIN	7	12668832	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		12668832	146469831	29	40588											
CPVL	54504	broad.mit.edu	37	chr7	29134736	29134736	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcatggagagcgttgtggtCcaggggaagtctctgtcacg	8	9	16	8	2	2	1	1	0	1	1	4	3	3	2	1	4	2	2	1	4	1	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr7:29134736C>T	ENST00000409850.1	-	9	1072	c.426G>A	c.(424-426)tgG>tgA	p.W142*	CPVL_ENST00000396276.3_Nonsense_Mutation_p.W142*|CPVL_ENST00000265394.5_Nonsense_Mutation_p.W142*			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	142					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GCGTTGTGGTCCAGGGGAAGT	0.507													T	29134736	C	T	29134736	4	4	396	1	0	0	0	0	0	1	0	0	3866	856	30	2	1040	2	CPVL	7	29134736	Nonsense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	16465904	29134736	130003927	30	40589											
MED22	6837	broad.mit.edu	37	chr9	136211169	136211169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggacaccagcttcatcAgggactcgccggctcggacc	7	6	13	15	4	2	0	2	0	0	0	5	3	2	3	3	5	1	2	3	5	0	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr9:136211169A>G	ENST00000491289.1	-	4	805	c.224T>C	c.(223-225)cTg>cCg	p.L75P	MED22_ENST00000476080.1_Missense_Mutation_p.L75P|MED22_ENST00000471524.1_5'UTR|MED22_ENST00000371999.1_Missense_Mutation_p.L69P|MED22_ENST00000344469.5_Missense_Mutation_p.L75P|MED22_ENST00000343730.5_Missense_Mutation_p.L75P			Q15528	MED22_HUMAN	mediator complex subunit 22	75					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)		CAGCTTCATCAGGGACTCGCC	0.627													G	136211169	A	G	136211169	3	3	396	1	0	0	0	0	1	0	0	0	9515	188	7	3	396	3	MED22	9	136211169	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		136211169	5002262	31	40590											
MAP3K8	1326	broad.mit.edu	37	chr10	30739296	30739296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggtgaaactgtccatcTctttatggaagcaggcgagg	9	10	15	7	1	1	1	0	1	1	0	3	3	2	2	1	5	2	1	1	5	3	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr10:30739296T>C	ENST00000263056.1	+	5	1310	c.614T>C	c.(613-615)cTc>cCc	p.L205P	MAP3K8_ENST00000542547.1_Missense_Mutation_p.L205P|MAP3K8_ENST00000375321.1_Missense_Mutation_p.L205P	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	205	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				ACTGTCCATCTCTTTATGGAA	0.488													C	30739296	T	C	30739296	3	2	396	1	0	0	0	0	1	0	0	0	9331	1551	54	3	624	3	MAP3K8	10	30739296	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08		30739296	104795451	32	40591											
DCDC1	341019	broad.mit.edu	37	chr11	31312399	31312399	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaattaacaacagatggTctagaagataattttttaag	16	15	6	4	0	2	3	0	0	2	3	2	3	2	3	0	1	2	0	0	1	7	7			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:31312399T>C	ENST00000597505.1	-	5	754	c.755A>G	c.(754-756)gAc>gGc	p.D252G	DCDC1_ENST00000452803.1_Splice_Site_p.D252G			P59894	DCDC1_HUMAN	doublecortin domain containing 1	252	Doublecortin.				intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAACAGATGGTCTAGAAGATA	0.338													C	31312399	T	C	31312399	5	2	396	1	0	0	0	0	0	0	1	0	4318	1681	58	3	321	3	DCDC1	11	31312399	Splice_Site	SNP	T	TCGA-DU-7298-01A-11D-2024-08		31312399	103694117	33	40592											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	396	1	0	1	0	1	0	0	0	0	3894	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-7298-01A-11D-2024-08	54062843	85375242	49631274	34	40593											
EIF4B	1975	broad.mit.edu	37	chr12	53431273	53431273	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgccactctccaacttctAaacctcccaaacctgatcag	12	10	3	16	0	3	1	1	1	2	0	5	1	4	1	5	0	4	0	5	0	4	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:53431273A>G	ENST00000262056.9	+	11	1713	c.1387A>G	c.(1387-1389)Aaa>Gaa	p.K463E	RP11-983P16.4_ENST00000552905.1_RNA|EIF4B_ENST00000416762.3_Missense_Mutation_p.K424E|EIF4B_ENST00000420463.3_Missense_Mutation_p.K468E	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	463					insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						TCCAACTTCTAAACCTCCCAA	0.478													G	53431273	A	G	53431273	3	3	396	1	0	0	0	0	1	0	0	0	5068	363	13	3	1429	3	EIF4B	12	53431273	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		53431273	80420622	35	40594											
SELPLG	6404	broad.mit.edu	37	chr12	109017462	109017462	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggtctgtgcttccatggCtgctggtgcagtggtctgtg	3	14	16	8	0	2	0	0	0	2	0	3	0	3	0	1	4	3	4	1	4	0	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr12:109017462C>T	ENST00000388962.3	-	3	751	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	SELPLG_ENST00000550948.1_Missense_Mutation_p.A208T|SELPLG_ENST00000228463.6_Missense_Mutation_p.A224T	NM_003006.4	NP_002997.2	Q14242	SELPL_HUMAN	selectin P ligand	208	12 X 10 AA tandem repeats.				blood coagulation|cellular response to interleukin-6	integral to plasma membrane|membrane fraction	bacterial cell surface binding|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|prostate(3)|skin(1)	12						GCTTCCATGGCTGCTGGTGCA	0.622													T	109017462	C	T	109017462	3	4	396	1	0	0	0	0	1	0	0	0	14113	797	28	2	620	2	SELPLG	12	109017462	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	55586189	109017462	24834433	36	40595											
ACIN1	22985	broad.mit.edu	37	chr14	23564434	23564434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cactgccatactctacccctCgattaccactcagaactccc	10	9	3	19	1	2	1	1	0	1	1	4	2	3	1	5	0	5	0	5	0	4	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:23564434C>G	ENST00000262710.1	-	1	389	c.62G>C	c.(61-63)cGa>cCa	p.R21P	ACIN1_ENST00000457657.1_Missense_Mutation_p.R21P|C14orf119_ENST00000319074.4_5'UTR|ACIN1_ENST00000555053.1_Missense_Mutation_p.R21P	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	21					apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		CTCTACCCCTCGATTACCACT	0.592													G	23564434	C	G	23564434	3	3	396	1	0	0	0	0	1	0	0	0	142	884	31	4	4186	4	ACIN1	14	23564434	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08		23564434	83785106	37	40596											
JPH4	84502	broad.mit.edu	37	chr14	24040638	24040638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatccaggggctccgtgtcGgaaccttctgagtcctgcct	5	11	11	14	2	2	1	1	1	1	0	6	2	5	2	5	3	2	1	5	3	1	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr14:24040638G>A	ENST00000397118.3	-	6	2204	c.1302C>T	c.(1300-1302)tcC>tcT	p.S434S	JPH4_ENST00000356300.4_Silent_p.S434S|JPH4_ENST00000544177.1_Silent_p.S99S	NM_032452.2	NP_115828.2	Q96JJ6	JPH4_HUMAN	junctophilin 4	434					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane				endometrium(1)|large_intestine(2)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00654)		GCTCCGTGTCGGAACCTTCTG	0.617													A	24040638	G	A	24040638	2	1	396	1	0	0	0	0	0	0	0	1	8021	1103	39	1		1	JPH4	14	24040638	Silent	SNP	G	TCGA-DU-7298-01A-11D-2024-08	476204	24040638	83308902	38	40597											
GLOD4	51031	broad.mit.edu	37	chr17	685481	685481	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaatacgaagtgcagagcTctgcgagcagccatgattcc	11	9	11	10	2	1	3	0	2	1	1	2	5	2	3	2	0	6	3	2	0	3	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:685481T>C	ENST00000301329.6	-	1	100	c.15A>G	c.(13-15)agA>agG	p.R5R	GLOD4_ENST00000301328.5_Silent_p.R5R|GLOD4_ENST00000536578.1_5'UTR	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	5						mitochondrion				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		AGTGCAGAGCTCTGCGAGCAG	0.662													C	685481	T	C	685481	2	2	396	1	0	0	0	0	0	0	0	1	6506	1548	54	3		3	GLOD4	17	685481	Silent	SNP	T	TCGA-DU-7298-01A-11D-2024-08		685481	80509729	39	40598											
TP53	7157	broad.mit.edu	37	chr17	7578177	7578177	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagttgcaaaccagacCtcaggcggctcatagggcac	11	5	10	15	1	2	1	2	0	0	1	2	1	2	1	4	3	2	4	4	3	2	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578177C>T	ENST00000420246.2	-	6	804	c.672G>A	c.(670-672)gaG>gaA	p.E224E	TP53_ENST00000413465.2_Splice_Site_p.E224E|TP53_ENST00000455263.2_Splice_Site_p.E224E|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site_p.E224E|TP53_ENST00000445888.2_Splice_Site_p.E224E|TP53_ENST00000269305.4_Splice_Site_p.E224E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	224	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> V (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.E224D(20)|p.?(13)|p.E224E(12)|p.0?(8)|p.E131D(3)|p.E131E(2)|p.V218_E224delVPYEPPE(1)|p.V225fs*24(1)|p.E224_V225insXX(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)		CAAACCAGACCTCAGGCGGCT	0.532		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)			T	7578177	C	T	7578177	5	4	396	1	0	0	0	0	0	0	1	0	16482	695	24	2	622	2	TP53	17	7578177	Splice_Site	SNP	C	TCGA-DU-7298-01A-11D-2024-08	6892696	7578177	73617033	40	40599											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:7578271T>G	ENST00000420246.2	-	6	710	c.578A>C	c.(577-579)cAt>cCt	p.H193P	TP53_ENST00000413465.2_Missense_Mutation_p.H193P|TP53_ENST00000455263.2_Missense_Mutation_p.H193P|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H193P|TP53_ENST00000445888.2_Missense_Mutation_p.H193P|TP53_ENST00000269305.4_Missense_Mutation_p.H193P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			G	7578271	T	G	7578271	3	3	396	1	0	0	0	0	1	0	0	0	16482	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-DU-7298-01A-11D-2024-08	94	7578271	73616939	41	40600											
CDRT1	374286	broad.mit.edu	37	chr17	15510998	15510998	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacaggttgtactcattCtaacaagggaatatttgaag	13	12	9	7	0	2	1	1	1	1	0	3	2	3	2	1	2	2	2	1	2	6	6			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:15510998C>A	ENST00000455584.2	-	12	2096		c.e12-1		CDRT1_ENST00000395906.3_Splice_Site																							TGTACTCATTCTAACAAGGGA	0.488													A	15510998	C	A	15510998	5	1	396	1	0	0	0	0	0	0	1	0	3204	927	32	4	1164	4	CDRT1	17	15510998	Splice_Site	SNP	C	TCGA-DU-7298-01A-11D-2024-08	7932727	15510998	65684212	42	40601											
FBXO47	494188	broad.mit.edu	37	chr17	37107930	37107930	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcaagttcatcccaacCtgctgttaaggtctgaggaa	11	10	9	11	0	3	1	2	1	1	0	4	2	4	2	2	2	2	4	2	2	4	2			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr17:37107930C>T	ENST00000378079.2	-	6	719	c.520G>A	c.(520-522)Ggt>Agt	p.G174S		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	174										NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						TCATCCCAACCTGCTGTTAAG	0.423													T	37107930	C	T	37107930	3	4	396	1	0	0	0	0	1	0	0	0	5805	681	24	2	862	2	FBXO47	17	37107930	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	21596932	37107930	44087280	43	40602											
NEDD4L	23327	broad.mit.edu	37	chr18	55912729	55912729	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctttggtccagacaaaaAcaattaaaaaggtaggtgtc	15	11	9	6	0	0	1	0	0	0	1	2	1	1	1	1	3	2	2	1	3	7	4			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr18:55912729A>G	ENST00000382850.4	+	3	306	c.193A>G	c.(193-195)Aca>Gca	p.T65A	NEDD4L_ENST00000456173.2_5'UTR|NEDD4L_ENST00000400345.3_Missense_Mutation_p.T65A|NEDD4L_ENST00000431212.2_5'UTR|NEDD4L_ENST00000256832.7_5'UTR|NEDD4L_ENST00000589054.1_Intron|NEDD4L_ENST00000586263.1_Missense_Mutation_p.T57A|NEDD4L_ENST00000357895.5_Missense_Mutation_p.T57A|NEDD4L_ENST00000456986.1_5'UTR|NEDD4L_ENST00000256830.9_Missense_Mutation_p.T65A|NEDD4L_ENST00000356462.6_Missense_Mutation_p.T65A|NEDD4L_ENST00000435432.2_5'UTR|NEDD4L_ENST00000588516.1_3'UTR	NM_015277.5	NP_056092.2	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	65	C2.				cellular sodium ion homeostasis|excretion|interspecies interaction between organisms|positive regulation of endocytosis|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of protein catabolic process|response to metal ion|sodium ion transport|water homeostasis	cytoplasm	protein binding|sodium channel regulator activity|ubiquitin-protein ligase activity			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						CCAGACAAAAACAATTAAAAA	0.333													G	55912729	A	G	55912729	3	3	396	1	0	0	0	0	1	0	0	0	10387	43	2	3	231	3	NEDD4L	18	55912729	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		55912729	22164519	44	40603											
GNAS	2778	broad.mit.edu	37	chr20	57429499	57429500	+	In_Frame_Ins	INS	-	-	GCAGCCCCT																															cagcggataccgctgccaggINSgcagcccctgcagccccagc																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr20:57429499_57429500insGCAGCCCCT	ENST00000371100.4	+	1	1731_1732	c.1179_1180insGCAGCCCCT	c.(1180-1182)gca>GCAGCCCCTgca	p.394_394A>AAPA	GNAS_ENST00000371102.4_In_Frame_Ins_p.394_394A>AAPA|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371099.2_In_Frame_Ins_p.394_394A>AAPA|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_In_Frame_Ins_p.334_335insPLQ	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			CCGCTGCCAGGGCAGCCCCTGC	0.688			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			GCAGCCCCT	57429500	-	GCAGCCCCT	57429499	7	5	396	1	0	1	1	0	0	0	0	0	6566	1232	43	0	1923	0	GNAS	20	57429499	In_Frame_Ins	INS	-	TCGA-DU-7298-01A-11D-2024-08		57429499	5596021	45	40604											
SMTN	6525	broad.mit.edu	37	chr22	31484563	31484563	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagggcagctggagtccAtgaacgatgtggaggaattg	10	8	17	6	1	0	1	0	1	0	0	1	5	1	4	1	5	2	3	1	5	2	1			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:31484563A>G	ENST00000333137.7	+	4	483	c.265A>G	c.(265-267)Atg>Gtg	p.M89V	SMTN_ENST00000347557.2_Missense_Mutation_p.M89V|SMTN_ENST00000358743.1_Missense_Mutation_p.M89V|SMTN_ENST00000475548.1_3'UTR	NM_001207018.1|NM_134269.2	NP_001193947.1|NP_599031.1	P53814	SMTN_HUMAN	smoothelin	89					muscle organ development|smooth muscle contraction	actin cytoskeleton|cytoplasm	actin binding|structural constituent of muscle			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						GCTGGAGTCCATGAACGATGT	0.637													G	31484563	A	G	31484563	3	3	396	1	0	0	0	0	1	0	0	0	14908	217	8	3	275	3	SMTN	22	31484563	Missense_Mutation	SNP	A	TCGA-DU-7298-01A-11D-2024-08		31484563	19820003	46	40605											
PIM3	415116	broad.mit.edu	37	chr22	50354613	50354613	+	Frame_Shift_Del	DEL	C	C	-																															gcgatgctgctctccaagttCggctccctggcgcacctctg																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chr22:50354613delC	ENST00000360612.4	+	1	453	c.18delC	c.(16-18)ttcfs	p.F6fs		NM_001001852.3	NP_001001852.2	Q86V86	PIM3_HUMAN	pim-3 oncogene	6					cell cycle|negative regulation of apoptosis|regulation of mitotic cell cycle		ATP binding|protein binding|protein serine/threonine kinase activity						all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.196)|LUAD - Lung adenocarcinoma(64;0.247)		TCTCCAAGTTCGGCTCCCTGG	0.801													-	50354613	C	-	50354613	7	5	396	1	0	1	0	1	0	0	0	0	12006	883	31	0	20	0	PIM3	22	50354613	Frame_Shift_Del	DEL	C	TCGA-DU-7298-01A-11D-2024-08	18870050	50354613	949953	47	40606											
ATRX	546	broad.mit.edu	37	chrX	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-																															tgttgttccattttaattacTtttttcttaaagtctgaagg																										TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:76937745delT	ENST00000373344.5	-	9	3217	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1001					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)	TTTTAATTACTTTTTTCTTAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937745	T	-	76937745	7	5	396	1	0	1	0	1	0	0	0	0	1213	1606	56	0	4583	0	ATRX	23	76937745	Frame_Shift_Del	DEL	T	TCGA-DU-7298-01A-11D-2024-08		76937745	78332815	48	40607											
NRK	203447	broad.mit.edu	37	chrX	105167163	105167163	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccctgtatacttgacaaaCgaatgggtaggctataatgc	12	10	9	10	1	0	1	0	1	0	0	0	2	0	1	2	2	3	3	2	2	7	6			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:105167163C>T	ENST00000428173.2	+	18	2970	c.2667C>T	c.(2665-2667)aaC>aaT	p.N889N	NRK_ENST00000243300.9_Silent_p.N888N			Q7Z2Y5	NRK_HUMAN	Nik related kinase	888							ATP binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(8)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(14)|lung(36)|ovary(3)|prostate(1)|skin(2)	76						ACTTGACAAACGAATGGGTAG	0.418										HNSCC(51;0.14)			T	105167163	C	T	105167163	2	4	396	1	0	0	0	0	0	0	0	1	10731	535	19	1		1	NRK	23	105167163	Silent	SNP	C	TCGA-DU-7298-01A-11D-2024-08	28229418	105167163	50103397	49	40608											
CNGA2	1260	broad.mit.edu	37	chrX	150909279	150909279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaggaagaaatttgaaCtatttgtcttggacccagct	11	14	8	8	0	2	2	1	1	2	1	3	4	2	4	1	2	2	1	1	2	4	5			TCGA-DU-7298-01A-11D-2024-08	TCGA-DU-7298-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f04a9dc1-2a7d-464f-9e72-92e2afe0d451	004f58de-822a-4232-8784-e3a1bc15783d	g.chrX:150909279C>G	ENST00000329903.4	+	4	421	c.388C>G	c.(388-390)Cta>Gta	p.L130V		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	130					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GAAATTTGAACTATTTGTCTT	0.527													G	150909279	C	G	150909279	3	3	396	1	0	0	0	0	1	0	0	0	3628	564	20	4	402	4	CNGA2	23	150909279	Missense_Mutation	SNP	C	TCGA-DU-7298-01A-11D-2024-08	45742116	150909279	4361281	50	40609											
MMEL1	79258	broad.mit.edu	37	chr1	2526254	2526254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtccaccttttcccgaaGcttcctgaggctccgctggg	4	11	12	14	2	0	1	0	1	0	0	4	2	4	1	5	3	1	3	5	3	1	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:2526254G>T	ENST00000288709.6	-	17	1876	c.1636C>A	c.(1636-1638)Ctt>Att	p.L546I	MMEL1_ENST00000378412.3_Missense_Mutation_p.L555I|MMEL1_ENST00000502556.1_Missense_Mutation_p.L398I	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	555					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		TTTTCCCGAAGCTTCCTGAGG	0.627													T	2526254	G	T	2526254	3	4	397	1	0	0	0	0	1	0	0	0	9721	971	34	4	708	4	MMEL1	1	2526254	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		2526254	246724367	1	40610											
RERE	473	broad.mit.edu	37	chr1	8716199	8716200	+	Frame_Shift_Del	DEL	CT	CT	-																															cctcgtcttcactgtgatcaCtctcagcataatttttggct																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:8716199_8716200delCT	ENST00000337907.3	-	3	791_792	c.157_158delAG	c.(157-159)agtfs	p.S53fs	RERE_ENST00000400908.2_Frame_Shift_Del_p.S53fs|RERE_ENST00000400907.2_Frame_Shift_Del_p.S53fs	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	53					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		ACTGTGATCACTCTCAGCATAA	0.465													-	8716200	CT	-	8716199	7	5	397	1	0	1	0	1	0	0	0	0	13319	565	20	0	4630	0	RERE	1	8716199	Frame_Shift_Del	DEL	CT	TCGA-DU-7299-01A-21D-2024-08	6189945	8716199	240534422	2	40611											
PRAMEF7	441871	broad.mit.edu	37	chr1	12979789	12979789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttaaaggagctggacctgagGggtgtcacgctgacccattt	9	10	13	9	1	1	2	1	2	0	0	1	4	1	4	2	4	1	2	2	4	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:12979789G>T	ENST00000361079.2	+	4	1064	c.981G>T	c.(979-981)agG>agT	p.R327S						PRAME family member 7											endometrium(2)|kidney(5)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	18	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGGACCTGAGGGGTGTCACGC	0.572													T	12979789	G	T	12979789	3	4	397	1	0	0	0	0	1	0	0	0	12524	1223	43	4	991	4	PRAMEF7	1	12979789	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	4263590	12979789	236270832	3	40612											
GALE	2582	broad.mit.edu	37	chr1	24124673	24124673	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcttctgcaccgactcGcccacggccttgagccccgc	6	6	11	18	4	1	2	0	1	1	1	2	3	1	2	5	2	2	2	5	2	0	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:24124673G>A	ENST00000374497.3	-	5	376	c.285C>T	c.(283-285)ggC>ggT	p.G95G		NM_000403.3|NM_001008216.1|NM_001127621.1	NP_000394.2|NP_001008217.1|NP_001121093.1	Q14376	GALE_HUMAN	UDP-galactose-4-epimerase	95					galactose catabolic process	cytosol	coenzyme binding|protein homodimerization activity|UDP-glucose 4-epimerase activity			endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(2)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;1.79e-24)|Colorectal(126;4.8e-08)|COAD - Colon adenocarcinoma(152;2.83e-06)|GBM - Glioblastoma multiforme(114;4.22e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|KIRC - Kidney renal clear cell carcinoma(1967;0.00314)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0827)|LUSC - Lung squamous cell carcinoma(448;0.184)		GCACCGACTCGCCCACGGCCT	0.557													A	24124673	G	A	24124673	2	1	397	1	0	0	0	0	0	0	0	1	6256	1074	38	1		1	GALE	1	24124673	Silent	SNP	G	TCGA-DU-7299-01A-21D-2024-08	11144884	24124673	225125948	4	40613											
VPS72	6944	broad.mit.edu	37	chr1	151158055	151158055	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgagagctaccagcCggggtgttgacctttcgagg	6	10	14	11	2	1	2	0	2	1	1	2	4	1	2	4	3	3	2	4	3	1	4			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:151158055C>T	ENST00000354473.4	-	3	348	c.312G>A	c.(310-312)ccG>ccA	p.P104P	VPS72_ENST00000496809.1_5'UTR			Q15906	VPS72_HUMAN	vacuolar protein sorting 72 homolog (S. cerevisiae)	104					chromatin modification|negative regulation of transcription from RNA polymerase II promoter	nucleus|protein complex	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			AGCTACCAGCCGGGGTGTTGA	0.498													T	151158055	C	T	151158055	2	4	397	1	0	0	0	0	0	0	0	1	17319	639	23	1		1	VPS72	1	151158055	Silent	SNP	C	TCGA-DU-7299-01A-21D-2024-08	127033382	151158055	98092566	5	40614											
CACNA1S	779	broad.mit.edu	37	chr1	201047179	201047181	+	In_Frame_Del	DEL	TCT	TCT	-																															gcgcaggcccagcccgtacaTcttcatcagcatctcagtgg																								rs9333651		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:201047179_201047181delTCT	ENST00000362061.3	-	11	1671_1673	c.1445_1447delAGA	c.(1444-1449)aagatg>atg	p.K482del	CACNA1S_ENST00000367338.3_In_Frame_Del_p.K482del	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	482					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AGCCCGTACATCTTCATCAGCAT	0.571													-	201047181	TCT	-	201047179	7	5	397	1	0	1	0	1	0	0	0	0	2573	1435	50	0	4310	0	CACNA1S	1	201047179	In_Frame_Del	DEL	TCT	TCGA-DU-7299-01A-21D-2024-08	49889124	201047179	48203442	6	40615											
LYST	1130	broad.mit.edu	37	chr1	235964233	235964233	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttcaaaaaactctcaaAtacatgggcaagcacatcaa	19	9	4	9	0	3	0	3	0	1	0	4	0	3	0	0	1	3	2	0	1	8	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:235964233A>C	ENST00000389794.3	-	9	4051	c.3877T>G	c.(3877-3879)Ttt>Gtt	p.F1293V	LYST_ENST00000536965.1_Missense_Mutation_p.F1293V|LYST_ENST00000389793.2_Missense_Mutation_p.F1293V			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1293					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			AAACTCTCAAATACATGGGCA	0.308													C	235964233	A	C	235964233	3	2	397	1	0	0	0	0	1	0	0	0	9199	101	4	5	7708	5	LYST	1	235964233	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	34917054	235964233	13286388	7	40616											
CHRM3	1131	broad.mit.edu	37	chr1	240071460	240071460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattacttttggcacagccAtcgctgctttttatatgcct	7	16	6	12	1	0	0	0	0	0	0	1	0	0	0	3	1	4	3	3	1	3	7			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr1:240071460A>G	ENST00000255380.4	+	5	1488	c.709A>G	c.(709-711)Atc>Gtc	p.I237V		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	237					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TGGCACAGCCATCGCTGCTTT	0.453													G	240071460	A	G	240071460	3	3	397	1	0	0	0	0	1	0	0	0	3408	217	8	3	711	3	CHRM3	1	240071460	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	4107227	240071460	9179161	8	40617											
MTIF2	4528	broad.mit.edu	37	chr2	55479696	55479696	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaccaatacgacaatgTcagtgacctgagcacctctg	13	8	7	13	1	2	2	1	2	1	0	2	3	2	2	3	0	4	1	3	0	5	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:55479696T>C	ENST00000394600.3	-	9	1494	c.758A>G	c.(757-759)gAc>gGc	p.D253G	MTIF2_ENST00000263629.4_Missense_Mutation_p.D253G|MTIF2_ENST00000403721.1_Missense_Mutation_p.D253G	NM_001005369.1	NP_001005369.1	P46199	IF2M_HUMAN	mitochondrial translational initiation factor 2	253	G-domain.				regulation of translational initiation	mitochondrion	GTP binding|GTPase activity|ribosomal small subunit binding|translation initiation factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	24						TACGACAATGTCAGTGACCTG	0.463													C	55479696	T	C	55479696	3	2	397	1	0	0	0	0	1	0	0	0	10010	1667	58	3	1461	3	MTIF2	2	55479696	Missense_Mutation	SNP	T	TCGA-DU-7299-01A-21D-2024-08		55479696	187719677	9	40618											
LRP1B	53353	broad.mit.edu	37	chr2	141128328	141128328	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacacagtcatgaattccAtcacacagccatctaattgg	13	10	5	13	0	3	1	2	1	1	0	5	1	5	1	3	1	1	0	3	1	2	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:141128328A>G	ENST00000389484.3	-	71	11930	c.10959T>C	c.(10957-10959)gaT>gaC	p.D3653D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3653	LDL-receptor class A 29.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATGAATTCCATCACACAGCC	0.393										TSP Lung(27;0.18)			G	141128328	A	G	141128328	2	3	397	1	0	0	0	0	0	0	0	1	9025	214	8	3		3	LRP1B	2	141128328	Silent	SNP	A	TCGA-DU-7299-01A-21D-2024-08	85648632	141128328	102071045	10	40619											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	397	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	67984784	209113112	34086261	11	40620											
OBSL1	23363	broad.mit.edu	37	chr2	220428315	220428316	+	Frame_Shift_Del	DEL	AT	AT	-																															gttatggcatgcacgaacacAtgttctcgggggtccacgat																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:220428315_220428316delAT	ENST00000404537.1	-	7	2497_2498	c.2441_2442delAT	c.(2440-2442)catfs	p.H814fs	OBSL1_ENST00000373876.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000265318.4_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000289656.3_Frame_Shift_Del_p.H401fs|OBSL1_ENST00000603926.1_Frame_Shift_Del_p.H814fs|OBSL1_ENST00000373873.4_Frame_Shift_Del_p.H814fs	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	814	Ig-like 6.				cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		GCACGAACACATGTTCTCGGGG	0.594													-	220428316	AT	-	220428315	7	5	397	1	0	1	0	1	0	0	0	0	10889	214	8	0	3460	0	OBSL1	2	220428315	Frame_Shift_Del	DEL	AT	TCGA-DU-7299-01A-21D-2024-08	11315203	220428315	22771058	12	40621											
SNED1	25992	broad.mit.edu	37	chr2	241989284	241989284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttcaacggaggctcctgcGatgcccatgacgactcctac	8	8	10	15	3	1	1	1	1	0	0	3	4	3	2	3	2	4	2	3	2	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr2:241989284G>A	ENST00000310397.8	+	12	1669	c.1669G>A	c.(1669-1671)Gat>Aat	p.D557N	SNED1_ENST00000469006.1_3'UTR|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000342631.6_Missense_Mutation_p.D557N|SNED1_ENST00000405547.3_Missense_Mutation_p.D557N|SNED1_ENST00000401884.1_Missense_Mutation_p.D557N	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	557	EGF-like 7.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		AGGCTCCTGCGATGCCCATGA	0.692													A	241989284	G	A	241989284	3	1	397	1	0	0	0	0	1	0	0	0	14939	1058	37	1	1715	1	SNED1	2	241989284	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	21560969	241989284	1210089	13	40622											
PCDHA3	56145	broad.mit.edu	37	chr5	140181907	140181907	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctctgatcagcgtgtcCgaccgcgactcaggagtcaa	9	8	11	13	5	4	1	3	1	1	0	6	4	5	2	2	1	1	1	2	1	1	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr5:140181907C>T	ENST00000522353.2	+	1	1125	c.1125C>T	c.(1123-1125)tcC>tcT	p.S375S	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.S375S	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCGTGTCCGACCGCGACT	0.483													T	140181907	C	T	140181907	2	4	397	1	0	0	0	0	0	0	0	1	11601	639	23	1		1	PCDHA3	5	140181907	Silent	SNP	C	TCGA-DU-7299-01A-21D-2024-08		140181907	40733353	14	40623											
CRISP2	7180	broad.mit.edu	37	chr6	49663637	49663637	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctattcatattattaccActgaaatttgaaatacatgt	14	18	3	6	0	2	2	1	2	1	0	2	2	2	2	1	0	2	0	1	0	7	8			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr6:49663637A>G	ENST00000339139.4	-	9	752	c.516T>C	c.(514-516)gcT>gcC	p.A172A		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	172						extracellular space				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			TATTATTACCACTGAAATTTG	0.348													G	49663637	A	G	49663637	5	3	397	1	0	0	0	0	0	0	1	0	3911	173	6	3	223	3	CRISP2	6	49663637	Splice_Site	SNP	A	TCGA-DU-7299-01A-21D-2024-08		49663637	121451430	15	40624											
PRKAR1B	5575	broad.mit.edu	37	chr7	751125	751125	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcctcctccgaggggcaGgcgggcggggaggccatggc	4	5	19	13	4	0	0	0	0	0	0	4	2	3	1	4	8	0	1	4	8	0	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:751125G>C	ENST00000406797.1	-	2	192	c.18C>G	c.(16-18)gcC>gcG	p.A6A	PRKAR1B_ENST00000544935.1_Silent_p.A6A|PRKAR1B_ENST00000360274.4_Silent_p.A6A|PRKAR1B_ENST00000403562.1_Silent_p.A6A|PRKAR1B_ENST00000537384.1_Silent_p.A6A|PRKAR1B_ENST00000488474.1_5'UTR	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	6	Dimerization and phosphorylation.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|protein phosphorylation|regulation of insulin secretion|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		CCGAGGGGCAGGCGGGCGGGG	0.647													C	751125	G	C	751125	2	2	397	1	0	0	0	0	0	0	0	1	12590	987	35	4		4	PRKAR1B	7	751125	Silent	SNP	G	TCGA-DU-7299-01A-21D-2024-08		751125	158387538	16	40625											
ZNF138	7697	broad.mit.edu	37	chr7	64291898	64291898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattctttccaaaaagtgaCactgagcagatatggaaaat	17	10	8	6	0	1	4	0	2	1	2	2	5	2	5	1	1	1	1	1	1	5	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:64291898C>T	ENST00000359735.3	+	4	454	c.107C>T	c.(106-108)aCa>aTa	p.T36I	ZNF138_ENST00000397136.2_Missense_Mutation_p.T36I|ZNF138_ENST00000440155.2_Missense_Mutation_p.T67I|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.T61I|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000494380.1_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.T93I	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	67					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CAAAAAGTGACACTGAGCAGA	0.368													T	64291898	C	T	64291898	3	4	397	1	0	0	0	0	1	0	0	0	17828	478	17	2	433	2	ZNF138	7	64291898	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	63540773	64291898	94846765	17	40626											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651754	121651754	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgctgtccactactcatgCtgcttcagagacgctggaat	8	12	10	11	1	2	1	2	0	0	1	3	3	3	2	1	1	4	4	1	1	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:121651754C>T	ENST00000393386.2	+	12	3065	c.2654C>T	c.(2653-2655)gCt>gTt	p.A885V	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	885					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTACTCATGCTGCTTCAGAG	0.473													T	121651754	C	T	121651754	3	4	397	1	0	0	0	0	1	0	0	0	12902	797	28	2	2700	2	PTPRZ1	7	121651754	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	57359856	121651754	37486909	18	40627											
SSPO	23145	broad.mit.edu	37	chr7	149489167	149489167	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctcagagccttgccctcaGgacggctgccccaatgccac	7	7	9	18	1	2	1	2	0	1	1	3	2	2	2	5	2	4	1	5	2	1	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr7:149489167G>A	ENST00000378016.2	+	0	5412							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTGCCCTCAGGACGGCTGCC	0.627													A	149489167	G	A	149489167	1	1	397	0	1	0	0	0	0	0	0	0	15285	991	35	2		2	SSPO	7	149489167	RNA	SNP	G	TCGA-DU-7299-01A-21D-2024-08	27837413	149489167	9649496	19	40628											
MFHAS1	9258	broad.mit.edu	37	chr8	8654899	8654899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaggggctgatcacagtcGgcgtgggtgggtaaaccaag	11	6	16	8	2	1	1	1	1	0	0	2	1	1	1	1	5	2	2	1	5	4	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr8:8654899G>A	ENST00000276282.6	-	2	3687	c.3101C>T	c.(3100-3102)cCg>cTg	p.P1034L	MFHAS1_ENST00000520091.1_5'UTR	NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	1034										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		GATCACAGTCGGCGTGGGTGG	0.557													A	8654899	G	A	8654899	3	1	397	1	0	0	0	0	1	0	0	0	9596	1116	39	1	65	1	MFHAS1	8	8654899	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		8654899	137709123	20	40629											
CCDC6	8030	broad.mit.edu	37	chr10	61612347	61612349	+	In_Frame_Del	DEL	TTC	TTC	-																															gagagctcattagtgaggaaTtcttcttctttctcataatt																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr10:61612347_61612349delTTC	ENST00000263102.6	-	2	646_648	c.415_417delGAA	c.(415-417)gaadel	p.E139del		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	139	5 X 29 AA tandem repeats.					cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton	p.E139delE(1)	CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		TAGTGAGGAATTCTTCTTCTTTC	0.36			T	RET	NSCLC								-	61612349	TTC	-	61612347	7	5	397	1	0	1	0	1	0	0	0	0	2858	1490	52	0	1039	0	CCDC6	10	61612347	In_Frame_Del	DEL	TTC	TCGA-DU-7299-01A-21D-2024-08		61612347	73922400	21	40630											
RHOD	29984	broad.mit.edu	37	chr11	66834308	66834308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaacagctttgacaacaTctttaaccgggtaggtactg	11	10	9	11	2	1	1	0	1	1	0	1	2	1	1	2	2	5	3	2	2	5	5			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr11:66834308T>C	ENST00000308831.2	+	3	405	c.320T>C	c.(319-321)aTc>aCc	p.I107T	RHOD_ENST00000533360.1_Missense_Mutation_p.I107T|RHOD_ENST00000532559.1_Intron	NM_014578.3	NP_055393	O00212	RHOD_HUMAN	ras homolog family member D	107					regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity			lung(3)	3						TTTGACAACATCTTTAACCGG	0.607													C	66834308	T	C	66834308	3	2	397	1	0	0	0	0	1	0	0	0	13426	1435	50	3	330	3	RHOD	11	66834308	Missense_Mutation	SNP	T	TCGA-DU-7299-01A-21D-2024-08		66834308	68172208	22	40631											
GPR162	27239	broad.mit.edu	37	chr12	6933476	6933476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcaggcactgcatgccGtcatgggcatctggatggtc	9	8	14	10	1	2	1	1	0	1	1	3	2	2	2	1	4	3	4	1	4	1	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:6933476G>A	ENST00000311268.3	+	2	1199	c.412G>A	c.(412-414)Gtc>Atc	p.V138I	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	138						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						ACTGCATGCCGTCATGGGCAT	0.612													A	6933476	G	A	6933476	3	1	397	1	0	0	0	0	1	0	0	0	6720	1145	40	1	433	1	GPR162	12	6933476	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		6933476	126918419	23	40632											
PHB2	11331	broad.mit.edu	37	chr12	7077659	7077659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaatggacggcaacactCgttcctcgtagtccagccct	9	9	9	14	3	0	1	0	1	0	0	4	2	2	2	3	2	2	3	3	2	3	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr12:7077659C>T	ENST00000535923.1	-	4	673	c.392G>A	c.(391-393)cGa>cAa	p.R131Q	PHB2_ENST00000542912.1_Missense_Mutation_p.R131Q|PHB2_ENST00000440277.1_Missense_Mutation_p.R131Q|PHB2_ENST00000399433.2_Missense_Mutation_p.R131Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	131					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CGGCAACACTCGTTCCTCGTA	0.567													T	7077659	C	T	7077659	3	4	397	1	0	0	0	0	1	0	0	0	11892	884	31	1	531	1	PHB2	12	7077659	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	144183	7077659	126774236	24	40633											
PCDH9	5101	broad.mit.edu	37	chr13	67801664	67801665	+	Frame_Shift_Del	DEL	AA	AA	-																															ccagtagtattatttaaagcAaagagtcttttggttgcagg																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr13:67801664_67801665delAA	ENST00000544246.1	-	2	1599_1600	c.908_909delTT	c.(907-909)tttfs	p.F303fs	PCDH9_ENST00000377861.3_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000377865.2_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000456367.1_Frame_Shift_Del_p.F303fs|PCDH9_ENST00000328454.5_Frame_Shift_Del_p.F303fs	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	303	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TATTTAAAGCAAAGAGTCTTTT	0.465													-	67801665	AA	-	67801664	7	5	397	1	0	1	0	1	0	0	0	0	11594	127	5	0	2820	0	PCDH9	13	67801664	Frame_Shift_Del	DEL	AA	TCGA-DU-7299-01A-21D-2024-08		67801664	47368214	25	40634											
SLC25A21	89874	broad.mit.edu	37	chr14	37198737	37198737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggtgacagtgacacatatCccagcaatttcttgtactgc	10	12	8	11	0	1	2	0	2	1	0	2	2	2	2	1	1	3	2	1	1	3	4			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr14:37198737C>T	ENST00000331299.5	-	5	820	c.305G>A	c.(304-306)gGa>gAa	p.G102E	SLC25A21_ENST00000555449.1_Missense_Mutation_p.G102E	NM_030631.3	NP_085134.1	Q9BQT8	ODC_HUMAN	solute carrier family 25 (mitochondrial oxoadipate carrier), member 21	102					lysine catabolic process	integral to membrane|mitochondrial inner membrane	alpha-ketoglutarate transmembrane transporter activity|binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|pancreas(1)|prostate(1)|skin(1)	9	Esophageal squamous(585;0.164)|Breast(36;0.179)|Hepatocellular(127;0.213)		Lung(8;2.16e-08)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.0112)|all cancers(34;0.0274)|LUSC - Lung squamous cell carcinoma(13;0.149)	GBM - Glioblastoma multiforme(112;0.00204)		TGACACATATCCCAGCAATTT	0.318													T	37198737	C	T	37198737	3	4	397	1	0	0	0	0	1	0	0	0	14578	855	30	2	623	2	SLC25A21	14	37198737	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08		37198737	70150803	26	40635											
ZC3H7A	29066	broad.mit.edu	37	chr16	11864798	11864799	+	Frame_Shift_Del	DEL	GA	GA	-																															tgccgaaaagggcatgctagGagagacactggctgtctgaa																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:11864798_11864799delGA	ENST00000396516.2	-	9	1145_1146	c.948_949delTC	c.(946-951)tctcctfs	p.P317fs	ZC3H7A_ENST00000355758.4_Frame_Shift_Del_p.P317fs			Q8IWR0	Z3H7A_HUMAN	zinc finger CCCH-type containing 7A	317						nucleus	nucleic acid binding|zinc ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(2)|liver(1)|lung(3)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(2)	25						GGCATGCTAGGAGAGACACTGG	0.485													-	11864799	GA	-	11864798	7	5	397	1	0	1	0	1	0	0	0	0	17673	1174	41	0	2022	0	ZC3H7A	16	11864798	Frame_Shift_Del	DEL	GA	TCGA-DU-7299-01A-21D-2024-08		11864798	78489955	27	40636											
ACSF3	197322	broad.mit.edu	37	chr16	89180844	89180844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcggtatggcatgaccGagatcggcatggctctgtcc	7	9	15	10	3	1	2	0	1	1	1	3	4	2	3	2	5	1	4	2	5	1	1	rs150487794	byFrequency	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr16:89180844G>A	ENST00000317447.4	+	6	1452	c.1075G>A	c.(1075-1077)Gag>Aag	p.E359K	ACSF3_ENST00000378345.4_Missense_Mutation_p.E94K|ACSF3_ENST00000406948.3_Missense_Mutation_p.E359K|CTD-2555A7.3_ENST00000562782.1_RNA	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	359					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		TGGCATGACCGAGATCGGCAT	0.637													A	89180844	G	A	89180844	3	1	397	1	0	0	0	0	1	0	0	0	176	1059	37	1	1089	1	ACSF3	16	89180844	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	77316046	89180844	1173909	28	40637											
TP53	7157	broad.mit.edu	37	chr17	7577105	7577105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc	9	5	10	17	3	1	0	0	0	1	0	3	1	2	1	3	3	2	2	3	3	1	0			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:7577105G>A	ENST00000420246.2	-	8	965	c.833C>T	c.(832-834)cCt>cTt	p.P278L	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.P278L|TP53_ENST00000359597.4_Missense_Mutation_p.P278L|TP53_ENST00000445888.2_Missense_Mutation_p.P278L|TP53_ENST00000269305.4_Missense_Mutation_p.P278L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552		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)			A	7577105	G	A	7577105	3	1	397	1	0	0	0	0	1	0	0	0	16482	1000	35	2	453	2	TP53	17	7577105	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		7577105	73618105	29	40638											
PIK3R5	23533	broad.mit.edu	37	chr17	8789796	8789796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggcagggaggccttacctCggtctgatagacttgcagca	8	8	15	10	1	1	2	0	1	1	1	2	3	1	3	2	5	3	3	2	5	2	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:8789796C>T	ENST00000447110.1	-	13	2156	c.2032G>A	c.(2032-2034)Gag>Aag	p.E678K	PIK3R5_ENST00000584803.1_Missense_Mutation_p.E677K|PIK3R5_ENST00000581552.1_Missense_Mutation_p.E678K	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	678	Interaction with G beta gamma proteins (By similarity).				platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCTTACCTCGGTCTGATAG	0.667													T	8789796	C	T	8789796	3	4	397	1	0	0	0	0	1	0	0	0	11999	893	31	1	638	1	PIK3R5	17	8789796	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	1212691	8789796	72405414	30	40639											
NF1	4763	broad.mit.edu	37	chr17	29541467	29541468	+	Splice_Site	DEL	AG	AG	-																															catgtttttgttttgtttttAgagtcttacatttaaagaaa																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29541467_29541468delAG	ENST00000358273.4	+	13	1775		c.e13-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000431387.4_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTGTTTTTAGAGTCTTACAT	0.292			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29541468	AG	-	29541467	8	5	397	1	0	1	0	1	0	0	1	0	10432	434	15	0	1441	0	NF1	17	29541467	Splice_Site	DEL	AG	TCGA-DU-7299-01A-21D-2024-08	20751671	29541467	51653743	31	40640											
NF1	4763	broad.mit.edu	37	chr17	29576134	29576134	+	Frame_Shift_Del	DEL	C	C	-																															agtgtgtgccactgtttataCcaggtatgcttacagttaga																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:29576134delC	ENST00000358273.4	+	30	4490	c.4107delC	c.(4105-4107)tacfs	p.Y1369fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.Y1369fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1369	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACTGTTTATACCAGGTATGCT	0.403			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29576134	C	-	29576134	7	5	397	1	0	1	0	1	0	0	0	0	10432	518	18	0	4286	0	NF1	17	29576134	Frame_Shift_Del	DEL	C	TCGA-DU-7299-01A-21D-2024-08	34667	29576134	51619076	32	40641											
CD300LG	146894	broad.mit.edu	37	chr17	41926022	41926022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagctgagggaccaccGgaagtactggtgcaggaagg	12	4	18	7	1	0	2	0	1	0	1	0	6	0	6	2	6	3	3	2	6	4	1	rs115182680	by1000genomes	TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:41926022G>A	ENST00000317310.4	+	2	181	c.140G>A	c.(139-141)cGg>cAg	p.R47Q	CD300LG_ENST00000586233.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000588884.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000293396.8_Missense_Mutation_p.R47Q|CD300LG_ENST00000539718.1_Missense_Mutation_p.R47Q|CD300LG_ENST00000377203.4_Missense_Mutation_p.R47Q	NM_145273.3	NP_660316.2	Q6UXG3	CLM9_HUMAN	CD300 molecule-like family member g	47	Ig-like V-type.					apical plasma membrane|basolateral plasma membrane|integral to membrane|multivesicular body membrane	receptor activity			central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(5)|skin(4)	19		Breast(137;0.0199)		BRCA - Breast invasive adenocarcinoma(366;0.115)		AGGGACCACCGGAAGTACTGG	0.577													A	41926022	G	A	41926022	3	1	397	1	0	0	0	0	1	0	0	0	3032	1116	39	1	146	1	CD300LG	17	41926022	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	12349888	41926022	39269188	33	40642											
MED13	9969	broad.mit.edu	37	chr17	60140577	60140579	+	In_Frame_Del	DEL	TCT	TCT	-																															taaaactgctcaaaatggggTcttcttctgtcacaggaaac																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:60140577_60140579delTCT	ENST00000397786.2	-	2	226_228	c.150_152delAGA	c.(148-153)gaagac>gac	p.E50del		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	50					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAAAATGGGGTCTTCTTCTGTCA	0.443													-	60140579	TCT	-	60140577	7	5	397	1	0	1	0	1	0	0	0	0	9505	1667	58	0	6488	0	MED13	17	60140577	In_Frame_Del	DEL	TCT	TCGA-DU-7299-01A-21D-2024-08	18214555	60140577	21054633	34	40643											
DNAH17	8632	broad.mit.edu	37	chr17	76510921	76510921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttctgcagctcgctcaCggcacgcagggacgtgatca	8	7	14	12	4	3	1	2	1	1	0	4	2	3	2	0	3	2	6	0	3	0	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr17:76510921C>T	ENST00000389840.5	-	26	4160	c.4036G>A	c.(4036-4038)Gtg>Atg	p.V1346M	DNAH17_ENST00000585328.1_Missense_Mutation_p.V1347M					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AGCTCGCTCACGGCACGCAGG	0.612													T	76510921	C	T	76510921	3	4	397	1	0	0	0	0	1	0	0	0	4640	536	19	1	9564	1	DNAH17	17	76510921	Missense_Mutation	SNP	C	TCGA-DU-7299-01A-21D-2024-08	16370344	76510921	4684289	35	40644											
GLTSCR1	29998	broad.mit.edu	37	chr19	48198169	48198171	+	In_Frame_Del	DEL	ATC	ATC	-																															ctcctcaggtgccgtccggaAtcatcctccagaacaaggct																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr19:48198169_48198171delATC	ENST00000396720.3	+	9	3102_3104	c.2908_2910delATC	c.(2908-2910)atcdel	p.I971del	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	971							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		GCCGTCCGGAATCATCCTCCAGA	0.68													-	48198171	ATC	-	48198169	7	5	397	1	0	1	0	1	0	0	0	0	6530	101	4	0	2934	0	GLTSCR1	19	48198169	In_Frame_Del	DEL	ATC	TCGA-DU-7299-01A-21D-2024-08		48198169	10930814	36	40645											
MYT1	4661	broad.mit.edu	37	chr20	62839582	62839582	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgagtactctgttattgtgGaggtccgctcggatgatgac	7	13	13	8	2	1	3	0	3	1	0	3	5	2	5	1	3	1	3	1	3	2	3			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr20:62839582G>T	ENST00000536311.1	+	7	1397	c.1033G>T	c.(1033-1035)Gag>Tag	p.E345*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Nonsense_Mutation_p.E345*			Q01538	MYT1_HUMAN	myelin transcription factor 1	345					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TGTTATTGTGGAGGTCCGCTC	0.577													T	62839582	G	T	62839582	4	4	397	1	0	0	0	0	0	1	0	0	10182	1175	41	4	1051	4	MYT1	20	62839582	Nonsense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08		62839582	185938	37	40646											
SMARCB1	6598	broad.mit.edu	37	chr22	24175836	24175837	+	Frame_Shift_Del	DEL	CT	CT	-																															gtggtgcccactgctggagaCtctgacagacgctgagatgg																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:24175836_24175837delCT	ENST00000344921.6	+	8	1298_1299	c.1091_1092delCT	c.(1090-1092)actfs	p.T364fs	SMARCB1_ENST00000407422.3_Frame_Shift_Del_p.T346fs|SMARCB1_ENST00000407082.3_Frame_Shift_Del_p.T309fs|SMARCB1_ENST00000263121.7_Frame_Shift_Del_p.T355fs			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	355					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				CTGCTGGAGACTCTGACAGACG	0.634			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							-	24175837	CT	-	24175836	7	5	397	1	0	1	0	1	0	0	0	0	14868	565	20	0	1094	0	SMARCB1	22	24175836	Frame_Shift_Del	DEL	CT	TCGA-DU-7299-01A-21D-2024-08		24175836	27128730	38	40647											
MGAT3	4248	broad.mit.edu	37	chr22	39883576	39883576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgctgcgtaccccactctActcccactcgcccctgctgc	4	9	6	22	2	1	0	0	0	1	0	3	0	2	0	6	0	6	3	6	0	2	2			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chr22:39883576A>G	ENST00000341184.6	+	2	439	c.224A>G	c.(223-225)tAc>tGc	p.Y75C		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	75	Pro-rich.				post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					ACCCCACTCTACTCCCACTCG	0.672													G	39883576	A	G	39883576	3	3	397	1	0	0	0	0	1	0	0	0	9619	391	14	3	226	3	MGAT3	22	39883576	Missense_Mutation	SNP	A	TCGA-DU-7299-01A-21D-2024-08	15707740	39883576	11420990	39	40648											
SLC35A2	7355	broad.mit.edu	37	chrX	48762551	48762552	+	Frame_Shift_Del	DEL	GA	GA	-																															agacacctgcgaagccggagGagagacaggaggccacgacg																										TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:48762551_48762552delGA	ENST00000376521.1	-	4	955_956	c.634_635delTC	c.(634-636)tccfs	p.S213fs	SLC35A2_ENST00000445167.2_Intron|SLC35A2_ENST00000452555.2_Frame_Shift_Del_p.S241fs|SLC35A2_ENST00000413561.2_Frame_Shift_Del_p.S152fs|SLC35A2_ENST00000376529.3_Intron|SLC35A2_ENST00000376515.3_Intron|SLC35A2_ENST00000247138.5_Frame_Shift_Del_p.S213fs	NM_001042498.2	NP_001035963.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	213					galactose metabolic process	Golgi membrane|integral to membrane|nucleus	sugar:hydrogen symporter activity|UDP-galactose transmembrane transporter activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						GAAGCCGGAGGAGAGACAGGAG	0.649													-	48762552	GA	-	48762551	7	5	397	1	0	1	0	1	0	0	0	0	14665	1174	41	0	719	0	SLC35A2	23	48762551	Frame_Shift_Del	DEL	GA	TCGA-DU-7299-01A-21D-2024-08		48762551	106508009	40	40649											
NSDHL	50814	broad.mit.edu	37	chrX	152034375	152034375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaggcagttctgggcGccaacgatcctgagaagaat	10	8	11	12	2	1	2	0	1	1	2	4	4	4	2	4	2	1	2	4	2	3	1			TCGA-DU-7299-01A-21D-2024-08	TCGA-DU-7299-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	23a9a0b4-0a13-4e5b-941b-8174a1c8f301	ee7cefc3-bfbf-4b30-9509-c7b6084b33d4	g.chrX:152034375G>A	ENST00000370274.3	+	6	750	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	NSDHL_ENST00000440023.1_Missense_Mutation_p.A186T	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	186					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	AGTTCTGGGCGCCAACGATCC	0.582													A	152034375	G	A	152034375	3	1	397	1	0	0	0	0	1	0	0	0	10746	1087	38	1	574	1	NSDHL	23	152034375	Missense_Mutation	SNP	G	TCGA-DU-7299-01A-21D-2024-08	103271824	152034375	3236185	41	40650											
RLF	6018	broad.mit.edu	37	chr1	40701977	40701978	+	Frame_Shift_Del	DEL	AA	AA	-																															tgacagatcagcataaggagAaaagagacaaaaaacctatt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:40701977_40701978delAA	ENST00000372771.4	+	8	1630_1631	c.1603_1604delAA	c.(1603-1605)aaafs	p.K535fs		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	535					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			GCATAAGGAGAAAAGAGACAAA	0.356													-	40701978	AA	-	40701977	7	5	398	1	0	1	0	1	0	0	0	0	13480	247	9	0	1633	0	RLF	1	40701977	Frame_Shift_Del	DEL	AA	TCGA-DU-7300-01A-21D-2086-08		40701977	208548644	1	40651											
HIVEP3	59269	broad.mit.edu	37	chr1	42048876	42048876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagaggcacagggggggcGgtactgggcgggtgctggag	7	4	24	6	2	0	1	0	0	0	1	0	3	0	2	0	9	2	3	0	9	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:42048876G>A	ENST00000372584.1	-	3	2607	c.1593C>T	c.(1591-1593)acC>acT	p.T531T	HIVEP3_ENST00000429157.2_Silent_p.T531T|HIVEP3_ENST00000247584.5_Silent_p.T531T|HIVEP3_ENST00000372583.1_Silent_p.T531T	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	531	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				CAGGGGGGGCGGTACTGGGCG	0.607													A	42048876	G	A	42048876	2	1	398	1	0	0	0	0	0	0	0	1	7243	1103	39	1		1	HIVEP3	1	42048876	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	1346899	42048876	207201745	2	40652											
FUBP1	8880	broad.mit.edu	37	chr1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-																															cagtttaaaaggaatacttaCagtcattttgaggagcaact																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr1:78433848_78433851delCAGT	ENST00000370767.1	-	3	335_338	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000370768.2_Splice_Site_p.DC83fs|FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								-	78433851	CAGT	-	78433848	8	5	398	1	0	1	0	1	0	0	1	0	6144	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-DU-7300-01A-21D-2086-08	36384972	78433848	170816773	3	40653											
OTOF	9381	broad.mit.edu	37	chr2	26686908	26686908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccaggcggcagcctgcgCgggggatgtcctcccagtgc	5	5	16	15	3	0	0	0	0	0	0	2	1	2	1	4	4	3	2	4	4	0	0	rs143889717		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:26686908C>T	ENST00000272371.2	-	40	5153	c.5027G>A	c.(5026-5028)cGc>cAc	p.R1676H	OTOF_ENST00000403946.3_Missense_Mutation_p.R1676H|OTOF_ENST00000338581.6_Missense_Mutation_p.R909H|OTOF_ENST00000339598.3_Missense_Mutation_p.R909H|OTOF_ENST00000402415.3_Missense_Mutation_p.R986H	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1676					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCAGCCTGCGCGGGGGATGTC	0.667													T	26686908	C	T	26686908	3	4	398	1	0	0	0	0	1	0	0	0	11379	768	27	1	1179	1	OTOF	2	26686908	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		26686908	216512465	4	40654											
ALMS1	7840	broad.mit.edu	37	chr2	73746974	73746976	+	In_Frame_Del	DEL	AAC	AAC	-																															tctgatgcagtcactcagatAacaacagaaagtccagaaaa																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:73746974_73746976delAAC	ENST00000264448.6	+	11	9720_9722	c.9609_9611delAAC	c.(9607-9612)ataaca>ata	p.T3205del	ALMS1_ENST00000409009.1_In_Frame_Del_p.T3163del	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3205					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCACTCAGATAACAACAGAAAGT	0.384													-	73746976	AAC	-	73746974	7	5	398	1	0	1	0	1	0	0	0	0	535	352	13	0	9651	0	ALMS1	2	73746974	In_Frame_Del	DEL	AAC	TCGA-DU-7300-01A-21D-2086-08	47060066	73746974	169452399	5	40655											
TMEM131	23505	broad.mit.edu	37	chr2	98504555	98504555	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtggctcaaatcgtatggGcctgcaattcccccggtaga	8	10	12	11	2	1	1	1	0	0	1	3	1	2	1	3	4	1	4	3	4	4	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:98504555G>A	ENST00000186436.5	-	4	547	c.319C>T	c.(319-321)Ccc>Tcc	p.P107S	TMEM131_ENST00000425805.2_Missense_Mutation_p.P58S	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	107						integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AATCGTATGGGCCTGCAATTC	0.338													A	98504555	G	A	98504555	3	1	398	1	0	0	0	0	1	0	0	0	16144	1203	42	2	5484	2	TMEM131	2	98504555	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	24757581	98504555	144694818	6	40656											
EPC2	26122	broad.mit.edu	37	chr2	149539217	149539218	+	Frame_Shift_Del	DEL	AG	AG	-																															tcatgttctttaccagtaacAgggggtatcacagaagagca																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:149539217_149539218delAG	ENST00000258484.6	+	11	1759_1760	c.1725_1726delAG	c.(1723-1728)acagggfs	p.G577fs		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	577					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TACCAGTAACAGGGGGTATCAC	0.376													-	149539218	AG	-	149539217	7	5	398	1	0	1	0	1	0	0	0	0	5202	175	7	0	1767	0	EPC2	2	149539217	Frame_Shift_Del	DEL	AG	TCGA-DU-7300-01A-21D-2086-08	51034662	149539217	93660156	7	40657											
RIF1	55183	broad.mit.edu	37	chr2	152319418	152319418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcaaatggacagtgaCattgtcattcctcaagatgt	13	10	11	7	0	2	2	2	1	0	1	3	5	3	4	1	2	1	1	1	2	2	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:152319418C>T	ENST00000243326.5	+	29	3867	c.3384C>T	c.(3382-3384)gaC>gaT	p.D1128D	RIF1_ENST00000444746.2_Silent_p.D1128D|RIF1_ENST00000430328.2_Silent_p.D1128D|RIF1_ENST00000428287.2_Silent_p.D1128D|RIF1_ENST00000453091.2_Silent_p.D1128D			Q5UIP0	RIF1_HUMAN	RAP1 interacting factor homolog (yeast)						cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGGACAGTGACATTGTCATTC	0.393													T	152319418	C	T	152319418	2	4	398	1	0	0	0	0	0	0	0	1	13448	477	17	2		2	RIF1	2	152319418	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08	2780201	152319418	90879955	8	40658											
GALNT13	114805	broad.mit.edu	37	chr2	155306962	155306962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttaacagtaaccaatgtctcGatgaaccttctgaagaagac	15	10	7	9	1	2	4	0	2	2	2	3	5	2	4	2	0	3	1	2	0	6	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:155306962G>C	ENST00000392825.3	+	13	2137	c.1570G>C	c.(1570-1572)Gat>Cat	p.D524H	GALNT13_ENST00000409237.1_3'UTR|AC009227.2_ENST00000434635.1_RNA	NM_052917.2	NP_443149.2	Q8IUC8	GLT13_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 13 (GalNAc-T13)	524	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|lung(37)|ovary(3)|pancreas(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	65						CCAATGTCTCGATGAACCTTC	0.438													C	155306962	G	C	155306962	3	2	398	1	0	0	0	0	1	0	0	0	6265	1058	37	4	1612	4	GALNT13	2	155306962	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	2987544	155306962	87892411	9	40659											
SCN2A	6326	broad.mit.edu	37	chr2	166170182	166170182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagaaaccccaactatGgctacacgagctttgacacc	12	8	8	13	1	0	2	0	1	0	1	0	3	0	2	3	2	4	3	3	2	5	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:166170182G>A	ENST00000357398.3	+	9	1377	c.1087G>A	c.(1087-1089)Ggc>Agc	p.G363S	SCN2A_ENST00000375427.2_Missense_Mutation_p.G363S|SCN2A_ENST00000283256.6_Missense_Mutation_p.G363S|SCN2A_ENST00000375437.2_Missense_Mutation_p.G363S			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	363					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CCCCAACTATGGCTACACGAG	0.433													A	166170182	G	A	166170182	3	1	398	1	0	0	0	0	1	0	0	0	14009	1348	47	2	1213	2	SCN2A	2	166170182	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	10863220	166170182	77029191	10	40660											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	398	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	42942930	209113112	34086261	11	40661											
ANKRD17	26057	broad.mit.edu	37	chr4	74012998	74012998	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actaactccaaatgaccctcTtgagcagcttccattaaagg	13	10	6	12	0	1	2	0	2	1	0	3	2	3	2	3	1	3	2	3	1	4	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:74012998T>C	ENST00000358602.4	-	9	1835	c.1719A>G	c.(1717-1719)caA>caG	p.Q573Q	ANKRD17_ENST00000509867.2_Silent_p.Q460Q|ANKRD17_ENST00000330838.6_Silent_p.Q573Q|ANKRD17_ENST00000514252.1_Intron	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	573					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGACCCTCTTGAGCAGCTT	0.398													C	74012998	T	C	74012998	2	2	398	1	0	0	0	0	0	0	0	1	646	1606	56	3		3	ANKRD17	4	74012998	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		74012998	117141278	12	40662											
ADH1C	126	broad.mit.edu	37	chr4	100263953	100263953	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtcacggatcataccAtggtgtcaagccgaccgatg	10	8	12	11	3	3	0	3	0	0	0	3	3	3	1	3	3	2	1	3	3	2	1	rs78836241		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:100263953A>G	ENST00000515683.1	-	0	1178					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GGATCATACCATGGTGTCAAG	0.413													G	100263953	A	G	100263953	1	3	398	0	1	0	0	0	0	0	0	0	309	231	8	3		3	ADH1C	4	100263953	RNA	SNP	A	TCGA-DU-7300-01A-21D-2086-08	26250955	100263953	90890323	13	40663											
TBCK	93627	broad.mit.edu	37	chr4	107229997	107229997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttaaggatttgaaagcGccctaaaattttgatggaat	13	14	10	4	1	0	2	0	2	0	0	0	4	0	4	1	3	1	1	1	3	5	6			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr4:107229997G>A	ENST00000273980.5	-	3	568	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	TBCK_ENST00000394706.3_Missense_Mutation_p.R41C|TBCK_ENST00000361687.4_Missense_Mutation_p.R41C|TBCK_ENST00000432496.2_Missense_Mutation_p.R41C|TBCK_ENST00000394708.2_Missense_Mutation_p.R41C			Q8TEA7	TBCK_HUMAN	TBC1 domain containing kinase		Protein kinase.					intracellular	Rab GTPase activator activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	25						ATTTGAAAGCGCCCTAAAATT	0.413													A	107229997	G	A	107229997	3	1	398	1	0	0	0	0	1	0	0	0	15736	1087	38	1	2660	1	TBCK	4	107229997	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	6966044	107229997	83924279	14	40664											
SKIV2L2	23517	broad.mit.edu	37	chr5	54706365	54706367	+	In_Frame_Del	DEL	CTT	CTT	-																															attgtagtgctgatgagctcCttctaactgagatgatgttt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:54706365_54706367delCTT	ENST00000230640.5	+	23	2913_2915	c.2659_2661delCTT	c.(2659-2661)cttdel	p.L888del	SKIV2L2_ENST00000545714.1_In_Frame_Del_p.L787del	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	888					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGATGAGCTCCTTCTAACTGAGA	0.35													-	54706367	CTT	-	54706365	7	5	398	1	0	1	0	1	0	0	0	0	14454	681	24	0	2749	0	SKIV2L2	5	54706365	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08		54706365	126208895	15	40665											
IPO11	51194	broad.mit.edu	37	chr5	61779947	61779949	+	In_Frame_Del	DEL	GAA	GAA	-																															ctcattatttcctattaactGaagaagaactgacaatgtgg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:61779947_61779949delGAA	ENST00000325324.6	+	11	1301_1303	c.1132_1134delGAA	c.(1132-1134)gaadel	p.E380del	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_In_Frame_Del_p.E420del	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	380						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		CCTATTAACTGAAGAAGAACTGA	0.33													-	61779949	GAA	-	61779947	7	5	398	1	0	1	0	1	0	0	0	0	7851	1291	45	0	1294	0	IPO11	5	61779947	In_Frame_Del	DEL	GAA	TCGA-DU-7300-01A-21D-2086-08	7073582	61779947	119135313	16	40666											
PIK3R1	5295	broad.mit.edu	37	chr5	67589550	67589552	+	In_Frame_Del	DEL	AAG	AAG	-																															tttctaggatcaagttgtcaAagaagataatattgaagctg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589550_67589552delAAG	ENST00000521381.1	+	11	1929_1931	c.1313_1315delAAG	c.(1312-1317)aaagaa>aaa	p.E439del	PIK3R1_ENST00000336483.5_In_Frame_Del_p.E169del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.E439del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.E439del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.E439del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.E139del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.E76del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	439					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAGTTGTCAAAGAAGATAATAT	0.266			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589552	AAG	-	67589550	7	5	398	1	0	1	0	1	0	0	0	0	11995	14	1	0	1481	0	PIK3R1	5	67589550	In_Frame_Del	DEL	AAG	TCGA-DU-7300-01A-21D-2086-08	5809603	67589550	113325710	17	40667											
PIK3R1	5295	broad.mit.edu	37	chr5	67589623	67589624	+	Frame_Shift_Del	DEL	AT	AT	-																															tttcaagaaaaaagtcgagaAtatgatagattatatgaaga																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr5:67589623_67589624delAT	ENST00000521381.1	+	11	2002_2003	c.1386_1387delAT	c.(1384-1389)gaatatfs	p.Y463fs	PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.Y193fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.Y463fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.Y463fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.Y463fs|PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.Y163fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.Y100fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.0?(1)|p.?(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463_L466del(1)|p.T454_D464del(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATT	0.287			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589624	AT	-	67589623	7	5	398	1	0	1	0	1	0	0	0	0	11995	98	4	0	1554	0	PIK3R1	5	67589623	Frame_Shift_Del	DEL	AT	TCGA-DU-7300-01A-21D-2086-08	73	67589623	113325637	18	40668											
HIST1H4E	8367	broad.mit.edu	37	chr6	26204972	26204972	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggcattaccaagcctGccatccggcgccttgctcgt	6	9	10	16	3	0	0	0	0	0	0	3	0	2	0	6	2	4	2	6	2	2	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:26204972G>C	ENST00000360441.4	+	1	115	c.100G>C	c.(100-102)Gcc>Ccc	p.A34P		NM_003545.3	NP_003536.1	P62805	H4_HUMAN	histone cluster 1, H4e	34					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	18		all_hematologic(11;0.196)				TACCAAGCCTGCCATCCGGCG	0.577													C	26204972	G	C	26204972	3	2	398	1	0	0	0	0	1	0	0	0	7224	1319	46	4	102	4	HIST1H4E	6	26204972	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		26204972	144910095	19	40669											
FRK	2444	broad.mit.edu	37	chr6	116381344	116381344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acaaagccacaaagtagtggCcatgcctctgtgactgggga	12	7	12	10	0	1	1	0	1	1	0	1	2	1	2	3	3	2	1	3	3	3	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:116381344C>T	ENST00000606080.1	-	1	577	c.131G>A	c.(130-132)gGc>gAc	p.G44D		NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	44	SH3.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AAAGTAGTGGCCATGCCTCTG	0.517													T	116381344	C	T	116381344	3	4	398	1	0	0	0	0	1	0	0	0	6100	739	26	2	1418	2	FRK	6	116381344	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	90176372	116381344	54733723	20	40670											
TCP1	6950	broad.mit.edu	37	chr6	160201521	160201523	+	In_Frame_Del	DEL	CTT	CTT	-																															acaaattctctcctgtaccaCttcttctgcctgtcccaaca																								rs147802495		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:160201521_160201523delCTT	ENST00000321394.7	-	9	1329_1331	c.1049_1051delAAG	c.(1048-1053)gaagtg>gtg	p.E350del	TCP1_ENST00000420894.2_In_Frame_Del_p.E350del|TCP1_ENST00000544255.1_In_Frame_Del_p.E126del|TCP1_ENST00000392168.2_In_Frame_Del_p.E195del	NM_030752.2	NP_110379.2	P17987	TCPA_HUMAN	t-complex 1	350					'de novo' posttranslational protein folding|tubulin complex assembly	cell junction|Golgi apparatus	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(2)	10		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(65;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)		TCCTGTACCACTTCTTCTGCCTG	0.365													-	160201523	CTT	-	160201521	7	5	398	1	0	1	0	1	0	0	0	0	15809	565	20	0	635	0	TCP1	6	160201521	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08	43820177	160201521	10913546	21	40671											
KIF25	3834	broad.mit.edu	37	chr6	168440828	168440828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccccaccctggtgcacgCggattcctccaggtctcacc	6	7	9	19	2	1	0	1	0	1	0	4	1	3	1	6	3	1	2	6	3	0	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr6:168440828C>T	ENST00000443060.2	+	7	969	c.578C>T	c.(577-579)gCg>gTg	p.A193V	KIF25_ENST00000351261.3_Missense_Mutation_p.A193V|KIF25_ENST00000354419.2_Missense_Mutation_p.A193V			Q9UIL4	KIF25_HUMAN	kinesin family member 25	193	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CTGGTGCACGCGGATTCCTCC	0.572													T	168440828	C	T	168440828	3	4	398	1	0	0	0	0	1	0	0	0	8351	768	27	1	596	1	KIF25	6	168440828	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	8239307	168440828	2674239	22	40672											
AEBP1	165	broad.mit.edu	37	chr7	44152194	44152196	+	In_Frame_Del	DEL	AGA	AGA	-																															ggccatcattgcctggatggAgaagaaccccttcgtgctgg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:44152194_44152196delAGA	ENST00000223357.3	+	18	2560_2562	c.2255_2257delAGA	c.(2254-2259)gagaag>gag	p.K753del	AEBP1_ENST00000450684.2_In_Frame_Del_p.K328del	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	753	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCCTGGATGGAGAAGAACCCCTT	0.64													-	44152196	AGA	-	44152194	7	5	398	1	0	1	0	1	0	0	0	0	349	304	11	0	2325	0	AEBP1	7	44152194	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08		44152194	114986469	23	40673											
PKD1L1	168507	broad.mit.edu	37	chr7	47840379	47840379	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaatgaaacagcagcccGgggaaggcgtctgtgaaggt	13	5	16	7	2	1	2	0	2	1	0	1	4	1	4	1	5	3	1	1	5	5	0	rs138774842		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:47840379G>A	ENST00000289672.2	-	54	8111	c.8061C>T	c.(8059-8061)ccC>ccT	p.P2687P	C7orf69_ENST00000258776.4_Intron|C7orf69_ENST00000418326.2_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2687					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGCAGCCCGGGGAAGGCGT	0.567													A	47840379	G	A	47840379	2	1	398	1	0	0	0	0	0	0	0	1	12041	1103	39	1		1	PKD1L1	7	47840379	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	3688185	47840379	111298284	24	40674											
KIAA1549	57670	broad.mit.edu	37	chr7	138603027	138603027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacggtcatgcacagagtctCggcaccatcccctgatccca	9	7	8	17	2	2	2	1	1	1	1	5	2	4	2	4	2	1	2	4	2	0	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:138603027C>T	ENST00000440172.1	-	2	1393	c.1345G>A	c.(1345-1347)Gag>Aag	p.E449K	KIAA1549_ENST00000242365.4_Missense_Mutation_p.E399K|KIAA1549_ENST00000422774.1_Missense_Mutation_p.E449K	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	449						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						CACAGAGTCTCGGCACCATCC	0.517			O	BRAF	pilocytic astrocytoma								T	138603027	C	T	138603027	3	4	398	1	0	0	0	0	1	0	0	0	8302	893	31	1	4583	1	KIAA1549	7	138603027	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	90762648	138603027	20535636	25	40675											
ACTR3C	653857	broad.mit.edu	37	chr7	149990490	149990490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtcgagatgtccaagatgCcgccaaggccagcactgcct	9	8	11	13	2	0	2	0	0	0	2	2	3	1	2	5	1	3	1	5	1	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr7:149990490C>T	ENST00000539352.1	-	3	315	c.64G>A	c.(64-66)Gca>Aca	p.A22T	ACTR3C_ENST00000252071.4_Missense_Mutation_p.A22T	NM_001164458.1	NP_001157930.1	Q9C0K3	ARP3C_HUMAN	ARP3 actin-related protein 3 homolog C (yeast)	22					regulation of actin filament polymerization	cytoskeleton	actin binding|ATP binding										GTCCAAGATGCCGCCAAGGCC	0.507													T	149990490	C	T	149990490	3	4	398	1	0	0	0	0	1	0	0	0	214	739	26	2	588	2	ACTR3C	7	149990490	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	11387463	149990490	9148173	26	40676											
CHRNA2	1135	broad.mit.edu	37	chr8	27321507	27321507	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgcaaactccccatcTgcactgagaagaggagagga	13	6	11	11	0	2	3	1	1	1	3	3	6	3	4	2	2	3	2	2	2	2	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:27321507T>G	ENST00000407991.1	-	6	1061	c.453A>C	c.(451-453)gcA>gcC	p.A151A	CHRNA2_ENST00000240132.2_Silent_p.A136A|CHRNA2_ENST00000520933.2_Silent_p.A151A	NM_000742.3	NP_000733.2	Q15822	ACHA2_HUMAN	cholinergic receptor, nicotinic, alpha 2 (neuronal)	151						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0208)|Epithelial(17;2.77e-10)|Colorectal(74;0.136)	Atracurium(DB00732)|Biperiden(DB00810)|Carbachol(DB00411)|Cisatracurium Besylate(DB00565)|Decamethonium(DB01245)|Dextromethorphan(DB00514)|Doxacurium chloride(DB01135)|Doxacurium(DB01334)|Gallamine Triethiodide(DB00483)|Levallorphan(DB00504)|Mecamylamine(DB00657)|Metocurine Iodide(DB00416)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicotine(DB00184)|Pancuronium(DB01337)|Pipecuronium(DB01338)|Rocuronium(DB00728)|Tubocurarine(DB01199)	ACTCCCCATCTGCACTGAGAA	0.622													G	27321507	T	G	27321507	2	3	398	1	0	0	0	0	0	0	0	1	3413	1567	55	5		5	CHRNA2	8	27321507	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		27321507	119042515	27	40677											
PKHD1L1	93035	broad.mit.edu	37	chr8	110487479	110487479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccaacatttcatatacatCgacattctatggattcaagg	15	12	5	9	1	3	0	2	0	1	0	4	2	3	1	1	2	3	0	1	2	6	6			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:110487479C>T	ENST00000378402.5	+	51	8842	c.8738C>T	c.(8737-8739)tCg>tTg	p.S2913L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2913					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TCATATACATCGACATTCTAT	0.338										HNSCC(38;0.096)			T	110487479	C	T	110487479	3	4	398	1	0	0	0	0	1	0	0	0	12049	893	31	1	8940	1	PKHD1L1	8	110487479	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	83165972	110487479	35876543	28	40678											
ZHX2	22882	broad.mit.edu	37	chr8	123965332	123965333	+	Frame_Shift_Del	DEL	TT	TT	-																															cgtatcatgcgtacccagacTttgccccccagaagttcaaa																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr8:123965332_123965333delTT	ENST00000314393.4	+	3	2417_2418	c.1582_1583delTT	c.(1582-1584)tttfs	p.F528fs		NM_014943.3	NP_055758.1	Q9Y6X8	ZHX2_HUMAN	zinc fingers and homeoboxes 2	528						cytoplasm|nucleus|plasma membrane	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	45	Lung NSC(37;2e-09)|Ovarian(258;0.0205)|Hepatocellular(40;0.105)		STAD - Stomach adenocarcinoma(47;0.00527)			GTACCCAGACTTTGCCCCCCAG	0.515													-	123965333	TT	-	123965332	7	5	398	1	0	1	0	1	0	0	0	0	17777	1609	56	0	1584	0	ZHX2	8	123965332	Frame_Shift_Del	DEL	TT	TCGA-DU-7300-01A-21D-2086-08	13477853	123965332	22398690	29	40679											
ROR2	4920	broad.mit.edu	37	chr9	94486807	94486807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctggggccatccagcGgataggcagcagcgagttcc	7	6	15	13	2	1	0	0	0	1	0	3	2	3	1	4	5	3	3	4	5	1	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:94486807G>A	ENST00000375708.3	-	9	2167	c.1969C>T	c.(1969-1971)Cgc>Tgc	p.R657C	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.R517C	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	657	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCATCCAGCGGATAGGCAGC	0.572													A	94486807	G	A	94486807	3	1	398	1	0	0	0	0	1	0	0	0	13618	1116	39	1	866	1	ROR2	9	94486807	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		94486807	46726624	30	40680											
CDC14B	8555	broad.mit.edu	37	chr9	99296274	99296274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctaggaattctttgacaatgGcatcagtaggggtgctgcca	10	11	12	8	0	2	1	1	1	1	0	2	2	2	2	1	4	2	3	1	4	4	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:99296274G>A	ENST00000375241.1	-	9	1332	c.881C>T	c.(880-882)gCc>gTc	p.A294V	CDC14B_ENST00000375236.1_Missense_Mutation_p.A294V|CDC14B_ENST00000265659.2_Missense_Mutation_p.A294V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A294V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A257V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A294V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	294	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				TTTGACAATGGCATCAGTAGG	0.423													A	99296274	G	A	99296274	3	1	398	1	0	0	0	0	1	0	0	0	3087	1203	42	2	639	2	CDC14B	9	99296274	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	4809467	99296274	41917157	31	40681											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	398	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08	40116796	139413070	1800361	32	40682											
CACNA1B	774	broad.mit.edu	37	chr9	140953608	140953608	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acatccatgttctccatggaAtgcgtgctgaagatcatcgc	10	11	9	11	2	2	2	1	1	1	1	5	3	3	3	2	1	2	2	2	1	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr9:140953608A>T	ENST00000277549.5	+	31	4708	c.2139A>T	c.(2137-2139)gaA>gaT	p.E713D	CACNA1B_ENST00000371363.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000371355.4_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371357.1_Missense_Mutation_p.E1518D|CACNA1B_ENST00000371372.1_Missense_Mutation_p.E1517D|CACNA1B_ENST00000277551.2_Missense_Mutation_p.E1517D			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1517					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TCTCCATGGAATGCGTGCTGA	0.507													T	140953608	A	T	140953608	3	4	398	1	0	0	0	0	1	0	0	0	2565	98	4	5	4669	5	CACNA1B	9	140953608	Missense_Mutation	SNP	A	TCGA-DU-7300-01A-21D-2086-08	1540538	140953608	259823	33	40683											
ITGA8	8516	broad.mit.edu	37	chr10	15559198	15559198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttgtcagctgttccctgtCggtcatgtcctcctgaggag	5	14	11	11	1	2	1	2	1	0	0	6	2	5	2	3	2	1	2	3	2	0	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr10:15559198C>T	ENST00000378076.3	-	30	3504	c.3151G>A	c.(3151-3153)Gac>Aac	p.D1051N		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1051					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						TGTTCCCTGTCGGTCATGTCC	0.443													T	15559198	C	T	15559198	3	4	398	1	0	0	0	0	1	0	0	0	7940	884	31	1	44	1	ITGA8	10	15559198	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		15559198	119975549	34	40684											
GIF	2694	broad.mit.edu	37	chr11	59611461	59611461	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtttgggtaggctgaTgaagtcaccgagttctccat	7	12	14	8	1	2	2	1	2	1	0	3	3	2	2	2	4	0	4	2	4	2	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:59611461T>C	ENST00000541311.1	-	2	306	c.72A>G	c.(70-72)tcA>tcG	p.S24S	GIF_ENST00000257248.2_Silent_p.S49S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	49					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAGGCTGATGAAGTCACCG	0.522													C	59611461	T	C	59611461	2	2	398	1	0	0	0	0	0	0	0	1	6432	1451	51	3		3	GIF	11	59611461	Silent	SNP	T	TCGA-DU-7300-01A-21D-2086-08		59611461	75395055	35	40685											
RAD9A	5883	broad.mit.edu	37	chr11	67163284	67163286	+	In_Frame_Del	DEL	GAG	GAG	-																															tcatcctgcgcagctaccacGaggaggaggcaggtgagggg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:67163284_67163286delGAG	ENST00000307980.2	+	6	640_642	c.547_549delGAG	c.(547-549)gagdel	p.E185del	RAD9A_ENST00000535644.1_3'UTR	NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	185					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CAGCTACCACGAGGAGGAGGCAG	0.66								Other conserved DNA damage response genes					-	67163286	GAG	-	67163284	7	5	398	1	0	1	0	1	0	0	0	0	13083	1059	37	0	569	0	RAD9A	11	67163284	In_Frame_Del	DEL	GAG	TCGA-DU-7300-01A-21D-2086-08	7551823	67163284	67843232	36	40686											
BTG4	54766	broad.mit.edu	37	chr11	111365994	111365994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccacattctttttgcGggggatttgtaaccaagatt	9	14	9	9	1	1	1	0	0	1	1	2	2	2	2	3	2	2	1	3	2	2	6	rs140812937		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr11:111365994G>A	ENST00000356018.2	-	5	755	c.556C>T	c.(556-558)Cgc>Tgc	p.R186C		NM_017589.3	NP_060059.1	Q9NY30	BTG4_HUMAN	B-cell translocation gene 4	186					cell cycle arrest|negative regulation of cell proliferation|neuron differentiation			p.R186C(1)		large_intestine(2)|upper_aerodigestive_tract(1)	3		all_cancers(61;3.78e-13)|all_epithelial(67;5.29e-08)|Melanoma(852;3.15e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0204)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;1.22e-06)|BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|all cancers(92;2.18e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0509)		TTCTTTTTGCGGGGGATTTGT	0.448													A	111365994	G	A	111365994	3	1	398	1	0	0	0	0	1	0	0	0	1566	1116	39	1	123	1	BTG4	11	111365994	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	44202710	111365994	23640522	37	40687											
CNTN1	1272	broad.mit.edu	37	chr12	41333261	41333261	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagttttcatggagtaaaggGacagagtggcttgtcaatag	13	11	13	4	0	2	1	2	0	0	1	2	3	2	3	0	3	0	3	0	3	5	5			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr12:41333261G>A	ENST00000551295.2	+	12	1470	c.1353G>A	c.(1351-1353)ggG>ggA	p.G451G	CNTN1_ENST00000348761.2_Silent_p.G440G|CNTN1_ENST00000547849.1_Silent_p.G451G|CNTN1_ENST00000547702.1_Silent_p.G451G|CNTN1_ENST00000347616.1_Silent_p.G451G|CNTN1_ENST00000360099.3_Silent_p.G451G	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1	451	Ig-like C2-type 5.				axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				GGAGTAAAGGGACAGAGTGGC	0.373													A	41333261	G	A	41333261	2	1	398	1	0	0	0	0	0	0	0	1	3671	1161	41	2		2	CNTN1	12	41333261	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08		41333261	92518634	38	40688											
MPHOSPH8	54737	broad.mit.edu	37	chr13	20221185	20221185	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtgctgaggaggatacCgatgtcagaggcaggaggaa	13	6	17	5	1	1	3	1	2	0	1	1	8	1	7	1	5	2	2	1	5	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:20221185C>T	ENST00000361479.5	+	3	1040	c.972C>T	c.(970-972)acC>acT	p.T324T	MPHOSPH8_ENST00000414242.2_Silent_p.T324T	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	324					cell cycle	cytoplasm|nucleus		p.T324T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		AGGAGGATACCGATGTCAGAG	0.498													T	20221185	C	T	20221185	2	4	398	1	0	0	0	0	0	0	0	1	9803	639	23	1		1	MPHOSPH8	13	20221185	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08		20221185	94948693	39	40689											
LATS2	26524	broad.mit.edu	37	chr13	21562426	21562426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccacgtccagcgggaaggcgCctgcgccgcccagcgccagg	6	2	15	18	6	0	0	0	0	0	0	1	1	1	1	6	3	3	0	6	3	1	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr13:21562426C>A	ENST00000382592.4	-	4	1898	c.1493G>T	c.(1492-1494)gGc>gTc	p.G498V	LATS2_ENST00000542899.1_Missense_Mutation_p.G498V	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	498					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGGGAAGGCGCCTGCGCCGCC	0.766													A	21562426	C	A	21562426	3	1	398	1	0	0	0	0	1	0	0	0	8706	739	26	4	1793	4	LATS2	13	21562426	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	1341241	21562426	93607452	40	40690											
PCNX	22990	broad.mit.edu	37	chr14	71443705	71443707	+	In_Frame_Del	DEL	CTT	CTT	-																															cgtcttgtctccaatgactcCttcatctctattcagccttc																								rs147408993	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr14:71443705_71443707delCTT	ENST00000304743.2	+	6	1097_1099	c.651_653delCTT	c.(649-654)tccttc>tcc	p.F218del	PCNX_ENST00000439984.3_In_Frame_Del_p.F218del|PCNX_ENST00000238570.5_In_Frame_Del_p.F218del	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	218						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CCAATGACTCCTTCATCTCTATT	0.414													-	71443707	CTT	-	71443705	7	5	398	1	0	1	0	1	0	0	0	0	11667	668	24	0	673	0	PCNX	14	71443705	In_Frame_Del	DEL	CTT	TCGA-DU-7300-01A-21D-2086-08		71443705	35905835	41	40691											
TTBK2	146057	broad.mit.edu	37	chr15	43045062	43045066	+	Frame_Shift_Del	DEL	ACTTA	ACTTA	-																															tcaatacaatgctgccctctActtaacttctcatcttcatt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:43045062_43045066delACTTA	ENST00000267890.6	-	14	2486_2490	c.2378_2382delTAAGT	c.(2377-2382)ttaagtfs	p.LS793fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	793					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GCTGCCCTCTACTTAACTTCTCATC	0.4													-	43045066	ACTTA	-	43045062	7	5	398	1	0	1	0	1	0	0	0	0	16779	388	14	0	1360	0	TTBK2	15	43045062	Frame_Shift_Del	DEL	ACTTA	TCGA-DU-7300-01A-21D-2086-08		43045062	59486330	42	40692											
IREB2	3658	broad.mit.edu	37	chr15	78764190	78764192	+	In_Frame_Del	DEL	CCT	CCT	-																															gtggtttttgaagaaaaagaCctcctcttcccagacagtgt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr15:78764190_78764192delCCT	ENST00000258886.8	+	7	956_958	c.807_809delCCT	c.(805-810)gacctc>gac	p.L271del	IREB2_ENST00000560440.1_In_Frame_Del_p.L271del	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	271							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAGAAAAAGACCTCCTCTTCCCA	0.399													-	78764192	CCT	-	78764190	7	5	398	1	0	1	0	1	0	0	0	0	7884	506	18	0	833	0	IREB2	15	78764190	In_Frame_Del	DEL	CCT	TCGA-DU-7300-01A-21D-2086-08	35719128	78764190	23767202	43	40693											
CCDC113	29070	broad.mit.edu	37	chr16	58287907	58287907	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgggttgcagtttcgAggcaggcgtagatccaaatc	8	12	12	9	2	1	1	0	0	1	1	5	2	2	1	1	3	1	5	1	3	2	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr16:58287907A>G	ENST00000219299.4	+	3	313	c.234A>G	c.(232-234)cgA>cgG	p.R78R	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	78						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						TGCAGTTTCGAGGCAGGCGTA	0.498													G	58287907	A	G	58287907	2	3	398	1	0	0	0	0	0	0	0	1	2776	291	11	3		3	CCDC113	16	58287907	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08		58287907	32066846	44	40694											
ACADVL	37	broad.mit.edu	37	chr17	7125570	7125572	+	In_Frame_Del	DEL	AGG	AGG	-																															tccagccacaggagccgtgaAggagaagatcacagcttttg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7125570_7125572delAGG	ENST00000356839.5	+	9	1006_1008	c.827_829delAGG	c.(826-831)aaggag>aag	p.E277del	ACADVL_ENST00000543245.2_In_Frame_Del_p.E300del|ACADVL_ENST00000350303.5_In_Frame_Del_p.E255del	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	277	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						GGAGCCGTGAAGGAGAAGATCAC	0.552													-	7125572	AGG	-	7125570	7	5	398	1	0	1	0	1	0	0	0	0	116	72	3	0	861	0	ACADVL	17	7125570	In_Frame_Del	DEL	AGG	TCGA-DU-7300-01A-21D-2086-08		7125570	74069640	45	40695											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	398	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	451524	7577094	73618116	46	40696											
GFAP	2670	broad.mit.edu	37	chr17	42991175	42991175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagatccagacgggccaggGtggcttcatctgcttcctgg	6	9	13	13	1	2	2	1	0	1	2	4	2	4	2	4	4	1	2	4	4	0	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:42991175G>T	ENST00000253408.5	-	3	604	c.539C>A	c.(538-540)aCc>aAc	p.T180N	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000591327.1_5'UTR|GFAP_ENST00000435360.2_Missense_Mutation_p.T180N|GFAP_ENST00000586793.1_Missense_Mutation_p.T180N	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	180	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				ACGGGCCAGGGTGGCTTCATC	0.622													T	42991175	G	T	42991175	3	4	398	1	0	0	0	0	1	0	0	0	6393	1261	44	4	916	4	GFAP	17	42991175	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	35414081	42991175	38204035	47	40697											
BAHCC1	57597	broad.mit.edu	37	chr17	79428907	79428909	+	In_Frame_Del	DEL	CAG	CAG	-																															accggtgcgggctcaggcccCagcagcagcagcaaatccaa																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr17:79428907_79428909delCAG	ENST00000307745.7	+	30	7218_7220	c.7218_7220delCAG	c.(7216-7221)cccagc>ccc	p.S2410del	RP11-1055B8.8_ENST00000572590.1_RNA																							GCTCAGGCCCCAGCAGCAGCAGC	0.69													-	79428909	CAG	-	79428907	7	5	398	1	0	1	0	1	0	0	0	0	1301	581	21	0	7151	0	BAHCC1	17	79428907	In_Frame_Del	DEL	CAG	TCGA-DU-7300-01A-21D-2086-08	36437732	79428907	1766303	48	40698											
TSHZ1	10194	broad.mit.edu	37	chr18	72997649	72997651	+	In_Frame_Del	DEL	AGA	AGA	-																															aggctcttcctctcgagaagAgaaggaggatccgcagtgtc																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr18:72997649_72997651delAGA	ENST00000322038.5	+	2	736_738	c.152_154delAGA	c.(151-156)gagaag>gag	p.K52del	TSHZ1_ENST00000580243.1_In_Frame_Del_p.K97del	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	97						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TCTCGAGAAGAGAAGGAGGATCC	0.586													-	72997651	AGA	-	72997649	7	5	398	1	0	1	0	1	0	0	0	0	16724	304	11	0	154	0	TSHZ1	18	72997649	In_Frame_Del	DEL	AGA	TCGA-DU-7300-01A-21D-2086-08		72997649	5079599	49	40699											
ELANE	1991	broad.mit.edu	37	chr19	852925	852925	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcgagcgcggccccaCgcgtggcccttcatggtgtc	3	6	16	16	6	1	0	1	0	0	0	2	1	1	0	4	5	1	0	4	5	0	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:852925C>T	ENST00000590230.1	+	3	258	c.117C>T	c.(115-117)caC>caT	p.H39H	ELANE_ENST00000263621.1_Silent_p.H39H			P08246	ELNE_HUMAN	elastase, neutrophil expressed	39	Peptidase S1.				cellular calcium ion homeostasis|negative regulation of chemokine biosynthetic process|negative regulation of chemotaxis|negative regulation of inflammatory response|negative regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of MAP kinase activity|positive regulation of smooth muscle cell proliferation|protein catabolic process|proteolysis|response to UV	cell surface|extracellular region|stored secretory granule	bacterial cell surface binding|cytokine binding|heparin binding			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(1)|lung(4)|pancreas(1)	13					Alpha-1-proteinase inhibitor(DB00058)|Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CGCGGCCCCACGCGTGGCCCT	0.721													T	852925	C	T	852925	2	4	398	1	0	0	0	0	0	0	0	1	5089	535	19	1		1	ELANE	19	852925	Silent	SNP	C	TCGA-DU-7300-01A-21D-2086-08		852925	58276058	50	40700											
PKN1	5585	broad.mit.edu	37	chr19	14557260	14557260	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccggaagctgctgctgacagCccagcagatgttgcaggaca	10	6	13	12	1	0	2	0	1	0	1	0	4	0	4	2	2	6	6	2	2	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:14557260C>A	ENST00000242783.6	+	4	662	c.497C>A	c.(496-498)gCc>gAc	p.A166D	PKN1_ENST00000342216.4_Missense_Mutation_p.A172D|PKN1_ENST00000587429.1_3'UTR	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	166					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CTGCTGACAGCCCAGCAGATG	0.612													A	14557260	C	A	14557260	3	1	398	1	0	0	0	0	1	0	0	0	12056	739	26	4	554	4	PKN1	19	14557260	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	13704335	14557260	44571723	51	40701											
LRP3	4037	broad.mit.edu	37	chr19	33696671	33696671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcctaccgcagcaaccaccGgcccgtgagcctggaggccg	7	4	13	17	4	0	1	0	1	0	0	1	2	1	2	7	3	4	2	7	3	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:33696671G>A	ENST00000253193.7	+	5	1197	c.995G>A	c.(994-996)cGg>cAg	p.R332Q		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	332	CUB 2.				receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGCAACCACCGGCCCGTGAGC	0.706													A	33696671	G	A	33696671	3	1	398	1	0	0	0	0	1	0	0	0	9028	1116	39	1	1013	1	LRP3	19	33696671	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	19139411	33696671	25432312	52	40702											
EID2B	126272	broad.mit.edu	37	chr19	40023078	40023081	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ccctcgccttgcagccttccAcaaacagcctgcggcgttcc																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40023078_40023081delACAA	ENST00000326282.4	-	1	413_416	c.362_365delTTGT	c.(361-366)tttgtgfs	p.FV121fs	EID2B_ENST00000601837.1_Intron|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	121					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GCAGCCTTCCACAAACAGCCTGCG	0.574													-	40023081	ACAA	-	40023078	7	5	398	1	0	1	0	1	0	0	0	0	5027	159	6	0	124	0	EID2B	19	40023078	Frame_Shift_Del	DEL	ACAA	TCGA-DU-7300-01A-21D-2086-08	6326407	40023078	19105905	53	40703											
PRX	57716	broad.mit.edu	37	chr19	40899883	40899883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaggggcttcagacagccGcagcctgagccccctccatc	8	6	10	17	1	1	2	1	1	0	1	3	2	2	2	5	2	3	2	5	2	1	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:40899883G>A	ENST00000324001.7	-	7	4646	c.4376C>T	c.(4375-4377)gCg>gTg	p.A1459V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1459					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCAGACAGCCGCAGCCTGAGC	0.617													A	40899883	G	A	40899883	3	1	398	1	0	0	0	0	1	0	0	0	12727	1087	38	1	13	1	PRX	19	40899883	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	876805	40899883	18229100	54	40704											
LILRA1	11024	broad.mit.edu	37	chr19	55105741	55105741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcacagtcctgatctgtcTcagtgagatttgaagaggga	10	11	12	8	1	3	4	2	3	2	2	5	6	4	5	1	1	0	0	1	1	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:55105741T>A	ENST00000453777.1	+	2	202	c.32T>A	c.(31-33)cTc>cAc	p.L11H	LILRB1_ENST00000396321.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.L11H|LILRA1_ENST00000473156.1_Intron|LILRB1_ENST00000418536.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	11					cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		CTGATCTGTCTCAGTGAGATT	0.587													A	55105741	T	A	55105741	3	1	398	1	0	0	0	0	1	0	0	0	8844	1551	54	5	34	5	LILRA1	19	55105741	Missense_Mutation	SNP	T	TCGA-DU-7300-01A-21D-2086-08	14205858	55105741	4023242	55	40705											
TRIM28	10155	broad.mit.edu	37	chr19	59061018	59061021	+	Splice_Site	DEL	GTGA	GTGA	-																															gccctgcaggatgtaccaggGtgagtgtgaggctggtgggg																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr19:59061018_59061021delGTGA	ENST00000253024.5	+	13	2271		c.e13+1		TRIM28_ENST00000341753.6_Splice_Site	NM_005762.2	NP_005753.1	Q13263	TIF1B_HUMAN	tripartite motif containing 28						epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent	nucleoplasm	chromo shadow domain binding|ligase activity|transcription corepressor activity|zinc ion binding			biliary_tract(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0434)|all cancers(4;1.39e-13)|Epithelial(4;1.01e-10)|OV - Ovarian serous cystadenocarcinoma(4;2.34e-09)|GBM - Glioblastoma multiforme(193;0.0102)|Lung(386;0.179)		ATGTACCAGGGTGAGTGTGAGGCT	0.574													-	59061021	GTGA	-	59061018	8	5	398	1	0	1	0	1	0	0	1	0	16603	1275	44	0	2033	0	TRIM28	19	59061018	Splice_Site	DEL	GTGA	TCGA-DU-7300-01A-21D-2086-08	3955277	59061018	67965	56	40706											
DNAJC28	54943	broad.mit.edu	37	chr21	34860571	34860571	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaatttccacagattcAtccagtttaaaaaacctttc	16	14	2	9	0	1	1	1	0	0	1	4	1	3	1	3	0	1	1	3	0	6	7			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:34860571A>T	ENST00000314399.3	-	2	1568	c.1130T>A	c.(1129-1131)aTg>aAg	p.M377K	DNAJC28_ENST00000402202.1_Missense_Mutation_p.M377K|DNAJC28_ENST00000381947.3_Missense_Mutation_p.M377K	NM_017833.3	NP_060303.2	Q9NX36	DJC28_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 28	377				LIVPILTRQKVHFDAQKEIVRAQKIYETLIKTKEVTDRNPN NLDQGEGEKTPEIKKGFLNWMNLWKFIKIRSF -> CSHPD QAKSPF (in Ref. 2; BAA91185).			heat shock protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(5)|skin(1)|urinary_tract(1)	18						CCACAGATTCATCCAGTTTAA	0.299													T	34860571	A	T	34860571	3	4	398	1	0	0	0	0	1	0	0	0	4685	217	8	5	40	5	DNAJC28	21	34860571	Missense_Mutation	SNP	A	TCGA-DU-7300-01A-21D-2086-08		34860571	13269324	57	40707											
COL6A1	1291	broad.mit.edu	37	chr21	47409674	47409674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgggtgtgtagggagaaaaAgggagccgtggggagaaggt	11	6	21	3	1	0	2	0	0	0	2	0	5	0	3	1	6	1	1	1	6	4	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr21:47409674A>G	ENST00000361866.3	+	11	1026	c.912A>G	c.(910-912)aaA>aaG	p.K304K		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	304	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGGAGAAAAAGGGAGCCGTG	0.637													G	47409674	A	G	47409674	2	3	398	1	0	0	0	0	0	0	0	1	3730	69	3	3		3	COL6A1	21	47409674	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08	12549103	47409674	720221	58	40708											
HDAC10	83933	broad.mit.edu	37	chr22	50689416	50689416	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttactcgtcccagagcaGccgggtggccgtcatgtcct	6	9	11	15	3	1	1	1	0	0	1	4	1	3	1	4	2	3	1	4	2	1	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chr22:50689416G>T	ENST00000216271.5	-	1	398	c.46C>A	c.(46-48)Ctg>Atg	p.L16M	HDAC10_ENST00000448072.1_Missense_Mutation_p.L16M|HDAC10_ENST00000498366.1_Intron|MAPK12_ENST00000497036.1_5'UTR|HDAC10_ENST00000349505.4_Missense_Mutation_p.L16M	NM_001159286.1|NM_032019.5	NP_001152758.1|NP_114408.3	Q969S8	HDA10_HUMAN	histone deacetylase 10	16	Histone deacetylase.				negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|nucleus	histone deacetylase activity|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)			endometrium(2)|kidney(2)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TCCCAGAGCAGCCGGGTGGCC	0.667													T	50689416	G	T	50689416	3	4	398	1	0	0	0	0	1	0	0	0	7060	962	34	4	2043	4	HDAC10	22	50689416	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08		50689416	615150	59	40709											
ARSF	416	broad.mit.edu	37	chrX	3021883	3021883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaggtaccagctggaCggttgattaaggaacctaca	13	8	12	8	1	0	1	0	1	0	0	0	4	0	4	2	5	4	3	2	5	5	4	rs141853880	byFrequency	TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:3021883C>T	ENST00000381127.1	+	9	1404	c.1183C>T	c.(1183-1185)Cgg>Tgg	p.R395W	ARSF_ENST00000359361.2_Missense_Mutation_p.R395W|ARSF_ENST00000537104.1_Missense_Mutation_p.R395W	NM_001201538.1|NM_001201539.1	NP_001188467.1|NP_001188468.1	P54793	ARSF_HUMAN	arylsulfatase F	395						extracellular region	arylsulfatase activity|metal ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(15)|ovary(2)|prostate(3)|skin(3)|urinary_tract(2)	38		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCAGCTGGACGGTTGATTAA	0.478													T	3021883	C	T	3021883	3	4	398	1	0	0	0	0	1	0	0	0	996	527	19	1	1213	1	ARSF	23	3021883	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08		3021883	152248677	60	40710											
WWC3	55841	broad.mit.edu	37	chrX	10085535	10085535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccctgcctcacgggactCgccgctggcgcagctggcgg	3	6	14	18	5	1	0	1	0	0	0	3	1	2	1	4	4	2	3	4	4	0	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:10085535C>T	ENST00000380861.4	+	11	1827	c.1436C>T	c.(1435-1437)tCg>tTg	p.S479L	WWC3_ENST00000454666.1_Missense_Mutation_p.S479L	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	479										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						TCACGGGACTCGCCGCTGGCG	0.706													T	10085535	C	T	10085535	3	4	398	1	0	0	0	0	1	0	0	0	17515	893	31	1	1474	1	WWC3	23	10085535	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	7063652	10085535	145185025	61	40711											
RPS6KA3	6197	broad.mit.edu	37	chrX	20205954	20205954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaaccttaccattaacaCaccaaaagaccaccagtcag	17	7	3	14	0	2	1	2	0	0	1	2	1	2	1	5	0	3	0	5	0	5	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:20205954C>A	ENST00000379565.3	-	9	973	c.766G>T	c.(766-768)Gtg>Ttg	p.V256L	RPS6KA3_ENST00000540702.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000544447.1_Missense_Mutation_p.V228L|RPS6KA3_ENST00000379548.4_Missense_Mutation_p.V227L	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	256	Protein kinase 1.				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	p.V256M(1)		breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						ACCATTAACACACCAAAAGAC	0.388													A	20205954	C	A	20205954	3	1	398	1	0	0	0	0	1	0	0	0	13743	478	17	4	1512	4	RPS6KA3	23	20205954	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	10120419	20205954	135064606	62	40712											
ZNF630	57232	broad.mit.edu	37	chrX	47918328	47918328	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctggtgtatgataagAggtgatttctgagagaagga	12	13	13	3	0	2	5	0	3	2	2	3	7	2	6	0	3	0	1	0	3	3	4			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:47918328A>C	ENST00000276054.4	-	5	2065	c.1131T>G	c.(1129-1131)ccT>ccG	p.P377P	ZNF630_ENST00000409324.3_Silent_p.P501P|ZNF630_ENST00000442455.3_Silent_p.P487P|ZNF630-AS1_ENST00000436124.1_RNA			Q2M218	ZN630_HUMAN	zinc finger protein 630	501					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						GTATGATAAGAGGTGATTTCT	0.413													C	47918328	A	C	47918328	2	2	398	1	0	0	0	0	0	0	0	1	18155	291	11	5		5	ZNF630	23	47918328	Silent	SNP	A	TCGA-DU-7300-01A-21D-2086-08	27712374	47918328	107352232	63	40713											
TFE3	7030	broad.mit.edu	37	chrX	48887870	48887870	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtctcccaggtcccccagGtggtcgctgggaaagtgcag	6	7	16	12	1	1	0	0	0	1	0	4	1	2	1	3	5	1	2	3	5	1	0			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:48887870G>T	ENST00000315869.7	-	10	1786	c.1527C>A	c.(1525-1527)caC>caA	p.H509Q		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	509					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						GGTCCCCCAGGTGGTCGCTGG	0.672			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								T	48887870	G	T	48887870	3	4	398	1	0	0	0	0	1	0	0	0	15900	1252	44	4	204	4	TFE3	23	48887870	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	969542	48887870	106382690	64	40714											
PAGE1	8712	broad.mit.edu	37	chrX	49458759	49458760	+	Frame_Shift_Del	DEL	TT	TT	-																															agcaggtgtagaatcctgacTttgagttggtgattccactt																										TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:49458759_49458760delTT	ENST00000376150.3	-	3	240_241	c.108_109delAA	c.(106-111)caaagtfs	p.S37fs		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	37					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GAATCCTGACTTTGAGTTGGTG	0.46													-	49458760	TT	-	49458759	7	5	398	1	0	1	0	1	0	0	0	0	11465	1609	56	0	347	0	PAGE1	23	49458759	Frame_Shift_Del	DEL	TT	TCGA-DU-7300-01A-21D-2086-08	570889	49458759	105811801	65	40715											
IRS4	8471	broad.mit.edu	37	chrX	107978402	107978402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctggtgaaaagcatctcGtcttccccgtcgccgatggc	6	9	11	15	5	2	1	0	1	2	0	5	2	3	1	4	2	1	1	4	2	2	1			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:107978402G>A	ENST00000372129.2	-	1	1249	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	391						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						AAAGCATCTCGTCTTCCCCGT	0.652													A	107978402	G	A	107978402	2	1	398	1	0	0	0	0	0	0	0	1	7900	1136	40	1		1	IRS4	23	107978402	Silent	SNP	G	TCGA-DU-7300-01A-21D-2086-08	58519643	107978402	47292158	66	40716											
HS6ST2	90161	broad.mit.edu	37	chrX	132091353	132091353	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctcatccatgttcccgaCgctgggggaaacccaagctc	8	10	9	14	2	1	0	1	0	1	0	5	2	3	1	3	2	2	3	3	2	2	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:132091353C>T	ENST00000370836.2	-	3	845	c.430G>A	c.(430-432)Gtc>Atc	p.V144I	HS6ST2_ENST00000521489.1_Splice_Site_p.V144I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	144						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					ATGTTCCCGACGCTGGGGGAA	0.627													T	132091353	C	T	132091353	5	4	398	1	0	0	0	0	0	0	1	0	7426	550	19	1	1523	1	HS6ST2	23	132091353	Splice_Site	SNP	C	TCGA-DU-7300-01A-21D-2086-08	24112951	132091353	23179207	67	40717											
GPR50	9248	broad.mit.edu	37	chrX	150349612	150349612	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcccaccactgctgaCtatcccaagcctgccactac	9	7	7	18	0	0	2	0	2	0	0	1	2	1	2	5	0	5	2	5	0	3	2			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:150349612C>A	ENST00000218316.3	+	2	1626	c.1557C>A	c.(1555-1557)gaC>gaA	p.D519E		NM_004224.3	NP_004215.2	Q13585	MTR1L_HUMAN	G protein-coupled receptor 50	519	Pro-rich.				cell-cell signaling	integral to plasma membrane	melatonin receptor activity			breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	38	Acute lymphoblastic leukemia(192;6.56e-05)					CCACTGCTGACTATCCCAAGC	0.617													A	150349612	C	A	150349612	3	1	398	1	0	0	0	0	1	0	0	0	6751	564	20	4	1563	4	GPR50	23	150349612	Missense_Mutation	SNP	C	TCGA-DU-7300-01A-21D-2086-08	18258259	150349612	4920948	68	40718											
ATP2B3	492	broad.mit.edu	37	chrX	152827614	152827614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcgtccagtttggcGggaagcccttcagctgctcc	5	12	11	13	2	2	0	2	0	0	0	5	1	4	1	3	2	3	3	3	2	1	3			TCGA-DU-7300-01A-21D-2086-08	TCGA-DU-7300-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41bb7bd2-c24e-41ae-881d-25b44ae287ad	2de73131-9a0c-46fc-aa61-6d35f76f75d2	g.chrX:152827614G>A	ENST00000370186.1	+	18	3357	c.3031G>A	c.(3031-3033)Ggg>Agg	p.G1011R	ATP2B3_ENST00000370181.2_Missense_Mutation_p.G1011R|ATP2B3_ENST00000393842.1_Missense_Mutation_p.G1011R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G1025R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G1025R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G1025R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	1025					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding	p.G1025W(3)|p.G1011W(1)		NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGTTTGGCGGGAAGCCCTT	0.612													A	152827614	G	A	152827614	3	1	398	1	0	0	0	0	1	0	0	0	1146	1116	39	1	3143	1	ATP2B3	23	152827614	Missense_Mutation	SNP	G	TCGA-DU-7300-01A-21D-2086-08	2478002	152827614	2442946	69	40719											
OR4F5	79501	broad.mit.edu	37	chr1	69454	69454	+	Frame_Shift_Del	DEL	C	C	-																															gatatatagcaatatgcaagCccctacactacactacaatt																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:69454delC	ENST00000335137.3	+	1	364	c.364delC	c.(364-366)cccfs	p.P122fs		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AATATGCAAGCCCCTACACTA	0.478													-	69454	C	-	69454	7	5	399	1	0	1	0	1	0	0	0	0	11141	739	26	0	366	0	OR4F5	1	69454	Frame_Shift_Del	DEL	C	TCGA-DU-7301-01A-11D-2086-08		69454	249181167	1	40720											
FAM132A	388581	broad.mit.edu	37	chr1	1179654	1179654	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggggaccgaagagatccCgctggggggagagagaagca	11	3	19	8	2	0	3	0	0	0	3	1	8	1	4	2	5	1	2	2	5	2	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:1179654C>T	ENST00000330388.2	-	3	327	c.296G>A	c.(295-297)cGg>cAg	p.R99Q		NM_001014980.2	NP_001014980.1	Q5T7M4	F132A_HUMAN	family with sequence similarity 132, member A	99						extracellular region				haematopoietic_and_lymphoid_tissue(1)|lung(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;2.22e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAGAGATCCCGCTGGGGGGA	0.672													T	1179654	C	T	1179654	5	4	399	1	0	0	0	0	0	0	1	0	5487	666	23	1	636	1	FAM132A	1	1179654	Splice_Site	SNP	C	TCGA-DU-7301-01A-11D-2086-08	1110200	1179654	248070967	2	40721											
MYOM3	127294	broad.mit.edu	37	chr1	24392470	24392470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaaccactgaaagcgagTctccttcttggtgttggtca	10	11	11	9	1	3	2	1	1	2	1	4	4	3	2	2	2	2	1	2	2	3	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:24392470T>C	ENST00000330966.7	-	29	3616	c.3454A>G	c.(3454-3456)Act>Gct	p.T1152A	RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Missense_Mutation_p.T42A|MYOM3_ENST00000374434.3_Missense_Mutation_p.T1149A|MYOM3_ENST00000329601.7_Missense_Mutation_p.T1151A			Q5VTT5	MYOM3_HUMAN	myomesin 3	1149	Ig-like C2-type 3.									NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGAAAGCGAGTCTCCTTCTTG	0.517													C	24392470	T	C	24392470	3	2	399	1	0	0	0	0	1	0	0	0	10169	1667	58	3	904	3	MYOM3	1	24392470	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08	23212816	24392470	224858151	3	40722											
DOCK7	85440	broad.mit.edu	37	chr1	62995074	62995074	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagtcgtgactggagagtaAattgtgtaccatattgatga	12	13	12	4	1	0	5	0	4	0	1	1	6	0	5	1	1	1	2	1	1	4	5			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:62995074A>G	ENST00000251157.5	-	30	3688	c.3655T>C	c.(3655-3657)Tta>Cta	p.L1219L	DOCK7_ENST00000340370.5_Silent_p.L1188L	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1219					activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						CTGGAGAGTAAATTGTGTACC	0.408													G	62995074	A	G	62995074	2	3	399	1	0	0	0	0	0	0	0	1	4731	11	1	3		3	DOCK7	1	62995074	Silent	SNP	A	TCGA-DU-7301-01A-11D-2086-08	38602604	62995074	186255547	4	40723											
NOTCH2	4853	broad.mit.edu	37	chr1	120491679	120491680	+	Frame_Shift_Del	DEL	CT	CT	-																															taactctcaaaatttggtgaCtctttgcaaacagcagcatt																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120491679_120491680delCT	ENST00000256646.2	-	16	2768_2769	c.2549_2550delAG	c.(2548-2550)gagfs	p.E850fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	850	EGF-like 22.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AATTTGGTGACTCTTTGCAAAC	0.431			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	120491680	CT	-	120491679	7	5	399	1	0	1	0	1	0	0	0	0	10624	564	20	0	4941	0	NOTCH2	1	120491679	Frame_Shift_Del	DEL	CT	TCGA-DU-7301-01A-11D-2086-08	57496605	120491679	128758942	5	40724											
NOTCH2	4853	broad.mit.edu	37	chr1	120497724	120497725	+	Frame_Shift_Ins	INS	-	-	T																															ctcaggcattcgttcacctgINStgagtagcagctggggtgat																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:120497724_120497725insT	ENST00000256646.2	-	13	2376_2377	c.2157_2158insA	c.(2155-2160)tcacagfs	p.Q720fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	720	EGF-like 19.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCGTTCACCTGTGAGTAGCAGC	0.535			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120497725	-	T	120497724	7	5	399	1	0	1	1	0	0	0	0	0	10624	1386	48	0	5345	0	NOTCH2	1	120497724	Frame_Shift_Ins	INS	-	TCGA-DU-7301-01A-11D-2086-08	6045	120497724	128752897	6	40725											
INSRR	3645	broad.mit.edu	37	chr1	156814052	156814052	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgaggaggacatgcaGccccccagcatcctcctcct	8	6	11	16	0	0	1	0	1	0	0	3	3	3	3	6	3	3	3	6	3	0	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:156814052G>A	ENST00000368195.3	-	15	3154	c.2758C>T	c.(2758-2760)Ctg>Ttg	p.L920L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	920					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AGGACATGCAGCCCCCCAGCA	0.562													A	156814052	G	A	156814052	2	1	399	1	0	0	0	0	0	0	0	1	7832	962	34	2		2	INSRR	1	156814052	Silent	SNP	G	TCGA-DU-7301-01A-11D-2086-08	36316328	156814052	92436569	7	40726											
CCDC19	25790	broad.mit.edu	37	chr1	159842834	159842834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcaaaggtggcaatccGgttctgcacttccttctgct	6	13	8	14	1	3	0	1	0	2	0	6	0	6	0	3	3	2	4	3	3	2	3	rs148876212	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:159842834G>A	ENST00000426543.2	-	11	1677	c.1222C>T	c.(1222-1224)Cgg>Tgg	p.R408W	CCDC19_ENST00000476696.1_5'UTR|CCDC19_ENST00000368099.4_Missense_Mutation_p.R493W			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	493						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			GTGGCAATCCGGTTCTGCACT	0.597													A	159842834	G	A	159842834	3	1	399	1	0	0	0	0	1	0	0	0	2822	1115	39	1	186	1	CCDC19	1	159842834	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	3028782	159842834	89407787	8	40727											
PPFIA4	8497	broad.mit.edu	37	chr1	203025938	203025938	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaggatcagggcagcaaccCcagcagcagcaacagcagcc	13	1	13	14	0	1	0	1	0	0	0	1	2	1	2	3	3	8	6	3	3	2	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr1:203025938C>G	ENST00000367240.2	+	18	2731	c.2204C>G	c.(2203-2205)cCc>cGc	p.P735R	PPFIA4_ENST00000272198.6_Missense_Mutation_p.P250R|PPFIA4_ENST00000447715.2_Missense_Mutation_p.P734R|PPFIA4_ENST00000414050.2_Missense_Mutation_p.P463R|PPFIA4_ENST00000295706.4_Missense_Mutation_p.P250R|PPFIA4_ENST00000599966.1_Missense_Mutation_p.P250R			O75335	LIPA4_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 4	250					cell communication	cell surface|cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(8)|lung(20)|ovary(4)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	50						GGCAGCAACCCCAGCAGCAGC	0.562													G	203025938	C	G	203025938	3	3	399	1	0	0	0	0	1	0	0	0	12389	623	22	4	771	4	PPFIA4	1	203025938	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	43183104	203025938	46224683	9	40728											
WDR33	55339	broad.mit.edu	37	chr2	128477431	128477431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgaccctgagggccaGgcgggccttgggggcctatg	6	6	17	12	1	0	2	0	2	0	0	0	2	0	2	5	5	0	0	5	5	2	2			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:128477431G>A	ENST00000322313.4	-	16	2326	c.2168C>T	c.(2167-2169)cCt>cTt	p.P723L		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	723	Collagen-like.				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)		CTGAGGGCCAGGCGGGCCTTG	0.632													A	128477431	G	A	128477431	3	1	399	1	0	0	0	0	1	0	0	0	17389	1000	35	2	1870	2	WDR33	2	128477431	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		128477431	114721942	10	40729											
NEB	4703	broad.mit.edu	37	chr2	152383461	152383461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaaagtattcctgagggCgagcaccgtgtttttgtcat	9	15	10	7	2	1	1	1	1	0	0	2	2	2	1	2	1	1	3	2	1	4	6			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr2:152383461C>T	ENST00000427231.2	-	148	22118	c.21916G>A	c.(21916-21918)Gcc>Acc	p.A7306T	NEB_ENST00000604864.1_Missense_Mutation_p.A7306T|NEB_ENST00000397345.3_Missense_Mutation_p.A7306T|NEB_ENST00000603639.1_Missense_Mutation_p.A7306T|NEB_ENST00000409198.1_Missense_Mutation_p.A5605T|NEB_ENST00000172853.10_Missense_Mutation_p.A5605T	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5605					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTCCTGAGGGCGAGCACCGTG	0.463													T	152383461	C	T	152383461	3	4	399	1	0	0	0	0	1	0	0	0	10378	768	27	1	3801	1	NEB	2	152383461	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	23906030	152383461	90815912	11	40730											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	399	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	56729651	209113112	34086261	12	40731											
GOLGA4	2803	broad.mit.edu	37	chr3	37369109	37369109	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaaaagtccaaatcacAtttggtccaacccaaattgc	16	9	6	10	0	1	2	1	1	0	1	3	2	3	2	3	1	2	0	3	1	6	2			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:37369109A>G	ENST00000361924.2	+	14	6106	c.5732A>G	c.(5731-5733)cAt>cGt	p.H1911R	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.H1933R	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	1911	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCCAAATCACATTTGGTCCAA	0.403													G	37369109	A	G	37369109	3	3	399	1	0	0	0	0	1	0	0	0	6611	217	8	3	5856	3	GOLGA4	3	37369109	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08		37369109	160653321	13	40732											
DHX30	22907	broad.mit.edu	37	chr3	47888021	47888023	+	In_Frame_Del	DEL	ATC	ATC	-																															gaggtgcccgctgcaatgttAtcatcacccaacctcgccgc																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr3:47888021_47888023delATC	ENST00000446256.2	+	12	1914_1916	c.1342_1344delATC	c.(1342-1344)atcdel	p.I449del	DHX30_ENST00000445061.1_In_Frame_Del_p.I488del|DHX30_ENST00000348968.4_In_Frame_Del_p.I460del|DHX30_ENST00000457607.1_In_Frame_Del_p.I516del	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	488	Helicase ATP-binding.					mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CTGCAATGTTATCATCACCCAAC	0.65													-	47888023	ATC	-	47888021	7	5	399	1	0	1	0	1	0	0	0	0	4543	449	16	0	1504	0	DHX30	3	47888021	In_Frame_Del	DEL	ATC	TCGA-DU-7301-01A-11D-2086-08	10518912	47888021	150134409	14	40733											
SLC7A11	23657	broad.mit.edu	37	chr4	139144383	139144386	+	Frame_Shift_Del	DEL	TAAT	TAAT	-																															ctgcataactccagggactaTaattatcagaattgctgtga																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:139144383_139144386delTAAT	ENST00000280612.5	-	4	892_895	c.613_616delATTA	c.(613-618)attatafs	p.II205fs		NM_014331.3	NP_055146.1	Q9UPY5	XCT_HUMAN	solute carrier family 7 (anionic amino acid transporter light chain, xc- system), member 11	205					blood coagulation|cellular nitrogen compound metabolic process|leukocyte migration|response to toxin	integral to membrane|plasma membrane	cystine:glutamate antiporter activity|protein binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(3)|prostate(1)|skin(2)	18	all_hematologic(180;0.166)				L-Cystine(DB00138)|L-Glutamic Acid(DB00142)|Sulfasalazine(DB00795)	CCAGGGACTATAATTATCAGAATT	0.387													-	139144386	TAAT	-	139144383	7	5	399	1	0	1	0	1	0	0	0	0	14788	1406	49	0	925	0	SLC7A11	4	139144383	Frame_Shift_Del	DEL	TAAT	TCGA-DU-7301-01A-11D-2086-08		139144383	52009893	15	40734											
FSTL5	56884	broad.mit.edu	37	chr4	162697089	162697089	+	Frame_Shift_Del	DEL	T	T	-																															tgcatcaaaatatttaaacaTttgatccaccaatagcttct																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr4:162697089delT	ENST00000306100.5	-	5	983	c.547delA	c.(547-549)atgfs	p.M183fs	FSTL5_ENST00000536695.1_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000379164.4_Frame_Shift_Del_p.M182fs|FSTL5_ENST00000427802.2_Frame_Shift_Del_p.M182fs	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	183	EF-hand 1.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TATTTAAACATTTGATCCACC	0.284													-	162697089	T	-	162697089	7	5	399	1	0	1	0	1	0	0	0	0	6132	1493	52	0	2044	0	FSTL5	4	162697089	Frame_Shift_Del	DEL	T	TCGA-DU-7301-01A-11D-2086-08	23552706	162697089	28457187	16	40735											
ZDHHC11	79844	broad.mit.edu	37	chr5	840585	840585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacccagccttggggggatCgggggcttagggtgggggac	5	6	20	10	1	0	0	0	0	0	0	1	2	0	2	3	8	1	1	3	8	1	2	rs138234809	by1000genomes	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:840585C>T	ENST00000511539.1	-	2	274	c.170G>A	c.(169-171)cGa>cAa	p.R57Q	ZDHHC11_ENST00000424784.2_Intron|ZDHHC11_ENST00000503758.2_Intron|ZDHHC11_ENST00000283441.8_Intron			Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	0						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			TTGGGGGGATCGGGGGCTTAG	0.597													T	840585	C	T	840585	3	4	399	1	0	0	0	0	1	0	0	0	17702	899	31	1		1	ZDHHC11	5	840585	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		840585	180074675	17	40736											
AMACR	23600	broad.mit.edu	37	chr5	33989379	33989379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgcagggcgggggctcAcgtcctgctcctcactggtg	4	8	17	12	2	2	0	2	0	0	0	4	1	4	0	2	5	2	3	2	5	0	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:33989379A>G	ENST00000335606.6	-	5	1056	c.968T>C	c.(967-969)gTg>gCg	p.V323A	AMACR_ENST00000382072.2_3'UTR|RP11-1084J3.4_ENST00000382079.3_3'UTR|AMACR_ENST00000514195.1_5'UTR|AMACR_ENST00000502637.1_Missense_Mutation_p.V308A|AMACR_ENST00000382085.3_Missense_Mutation_p.V323A	NM_001167595.1|NM_014324.5	NP_001161067.1|NP_055139.4	Q9UHK6	AMACR_HUMAN	alpha-methylacyl-CoA racemase	323					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	mitochondrion|peroxisomal matrix	alpha-methylacyl-CoA racemase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	19						GCGGGGGCTCACGTCCTGCTC	0.507													G	33989379	A	G	33989379	3	3	399	1	0	0	0	0	1	0	0	0	562	159	6	3	242	3	AMACR	5	33989379	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08	33148794	33989379	146925881	18	40737											
ARSI	340075	broad.mit.edu	37	chr5	149676821	149676821	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgttgagtttacggaaaaAggatcgaagcttgcaaatct	13	11	12	5	2	1	1	0	1	1	0	2	4	1	3	0	3	3	4	0	3	5	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr5:149676821A>G	ENST00000328668.7	-	2	2245	c.1666T>C	c.(1666-1668)Ttt>Ctt	p.F556L		NM_001012301.2	NP_001012301.1	Q5FYB1	ARSI_HUMAN	arylsulfatase family, member I	556						endoplasmic reticulum|extracellular region	arylsulfatase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	23			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTACGGAAAAAGGATCGAAGC	0.537													G	149676821	A	G	149676821	3	3	399	1	0	0	0	0	1	0	0	0	999	72	3	3	47	3	ARSI	5	149676821	Missense_Mutation	SNP	A	TCGA-DU-7301-01A-11D-2086-08	115687442	149676821	31238439	19	40738											
OR10C1	442194	broad.mit.edu	37	chr6	29408070	29408070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccggcgccacatctctcGctctggatgtgctctccaga	5	10	11	15	3	3	1	0	0	3	1	6	2	3	2	3	3	1	2	3	3	0	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr6:29408070G>A	ENST00000444197.2	+	1	988	c.278G>A	c.(277-279)cGc>cAc	p.R93H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	93					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CACATCTCTCGCTCTGGATGT	0.587													A	29408070	G	A	29408070	3	1	399	1	0	0	0	0	1	0	0	0	10974	1087	38	1	280	1	OR10C1	6	29408070	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		29408070	141706997	20	40739											
ZNF425	155054	broad.mit.edu	37	chr7	148809259	148809259	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactttccagtattcttcaTgttcaactgttcatcagtag	10	16	5	10	0	5	0	4	0	1	0	6	0	6	0	1	0	2	4	1	0	4	7			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr7:148809259T>A	ENST00000378061.2	-	3	406	c.274A>T	c.(274-276)Atg>Ttg	p.M92L	ZNF425_ENST00000484196.1_5'UTR	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	92					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GTATTCTTCATGTTCAACTGT	0.363													A	148809259	T	A	148809259	3	1	399	1	0	0	0	0	1	0	0	0	18000	1464	51	5	1992	5	ZNF425	7	148809259	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		148809259	10329404	21	40740											
UNC5D	137970	broad.mit.edu	37	chr8	35583683	35583683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttaccaggtaactccctgctCctgaattctgccatgcagcc	8	11	7	15	0	1	1	0	1	1	0	3	1	3	1	5	1	6	3	5	1	3	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:35583683C>T	ENST00000287272.2	+	9	1130	c.1110C>T	c.(1108-1110)ctC>ctT	p.L370L	UNC5D_ENST00000449677.1_Silent_p.L15L|UNC5D_ENST00000404895.2_Silent_p.L439L|UNC5D_ENST00000420357.1_Silent_p.L372L|UNC5D_ENST00000416672.1_Silent_p.L444L|UNC5D_ENST00000453357.2_Silent_p.L434L			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	439					apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		ACTCCCTGCTCCTGAATTCTG	0.502													T	35583683	C	T	35583683	2	4	399	1	0	0	0	0	0	0	0	1	17097	842	30	2		2	UNC5D	8	35583683	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		35583683	110780339	22	40741											
FBXO43	286151	broad.mit.edu	37	chr8	101146458	101146458	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagaggtgtcaaaacttcTccccagggagataatgttga	12	10	11	8	0	2	3	1	1	1	2	3	4	2	3	2	2	1	2	2	2	4	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:101146458T>C	ENST00000428847.2	-	4	2125	c.1809A>G	c.(1807-1809)ggA>ggG	p.G603G		NM_001029860.3	NP_001025031.2	Q4G163	FBX43_HUMAN	F-box protein 43	603					meiosis		zinc ion binding	p.G569V(2)|p.G569G(2)|p.G603G(1)|p.G603V(1)		endometrium(1)|kidney(4)|large_intestine(5)|lung(14)|prostate(1)|skin(5)|urinary_tract(1)	31	all_cancers(14;0.000139)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000274)|all_lung(17;0.000798)		Epithelial(11;1.17e-09)|all cancers(13;1.34e-07)|OV - Ovarian serous cystadenocarcinoma(57;3.82e-05)|STAD - Stomach adenocarcinoma(118;0.0957)			TCAAAACTTCTCCCCAGGGAG	0.408													C	101146458	T	C	101146458	2	2	399	1	0	0	0	0	0	0	0	1	5801	1538	54	3		3	FBXO43	8	101146458	Silent	SNP	T	TCGA-DU-7301-01A-11D-2086-08	65562775	101146458	45217564	23	40742											
ABRA	137735	broad.mit.edu	37	chr8	107782084	107782084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataagtcttgctgaccaccGttttggacacctctttcttt	7	16	6	12	1	3	1	0	1	3	0	3	2	3	2	3	1	1	2	3	1	1	6	rs113926734		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr8:107782084G>A	ENST00000311955.3	-	1	389	c.335C>T	c.(334-336)aCg>aTg	p.T112M		NM_139166.4	NP_631905.1	Q8N0Z2	ABRA_HUMAN	actin-binding Rho activating protein	112					positive regulation of Rho protein signal transduction|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent|transmembrane transport	actin cytoskeleton|plasma membrane|sarcomere	actin binding			breast(1)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|prostate(2)	27			OV - Ovarian serous cystadenocarcinoma(57;3.83e-09)			GCTGACCACCGTTTTGGACAC	0.547													A	107782084	G	A	107782084	3	1	399	1	0	0	0	0	1	0	0	0	100	1145	40	1	818	1	ABRA	8	107782084	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	6635626	107782084	38581938	24	40743											
LAMC3	10319	broad.mit.edu	37	chr9	133942444	133942444	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgccagtgtagcgggaaCgtggaccccaatgccgtggg	8	6	16	11	3	0	0	0	0	0	0	0	2	0	2	4	3	4	1	4	3	3	1	rs145571152	byFrequency	TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:133942444C>T	ENST00000361069.4	+	14	2578	c.2445C>T	c.(2443-2445)aaC>aaT	p.N815N	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	815	Laminin EGF-like 8.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTAGCGGGAACGTGGACCCCA	0.647													T	133942444	C	T	133942444	2	4	399	1	0	0	0	0	0	0	0	1	8675	535	19	1		1	LAMC3	9	133942444	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		133942444	7270987	25	40744											
NOTCH1	4851	broad.mit.edu	37	chr9	139393364	139393365	+	Frame_Shift_Del	DEL	AT	AT	-																															cgctcaccctgttgttctgcAtatctttgttagccccgttc																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr9:139393364_139393365delAT	ENST00000277541.6	-	33	6241_6242	c.6166_6167delAT	c.(6166-6168)atgfs	p.M2056fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2056					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.M2057fs*211(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTTGTTCTGCATATCTTTGTTA	0.609			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139393365	AT	-	139393364	7	5	399	1	0	1	0	1	0	0	0	0	10623	217	8	0	1508	0	NOTCH1	9	139393364	Frame_Shift_Del	DEL	AT	TCGA-DU-7301-01A-11D-2086-08	5450920	139393364	1820067	26	40745											
PDE6C	5146	broad.mit.edu	37	chr10	95385365	95385365	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggccaatcaagcttggaGaagtagagccttataaaggt	15	9	11	6	0	1	2	1	0	0	2	1	3	1	2	2	3	2	2	2	3	8	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr10:95385365G>T	ENST00000371447.3	+	5	1036	c.898G>T	c.(898-900)Gaa>Taa	p.E300*		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	300	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding	p.V301_E302del(1)		breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				CAAGCTTGGAGAAGTAGAGCC	0.413													T	95385365	G	T	95385365	4	4	399	1	0	0	0	0	0	1	0	0	11723	943	33	4	916	4	PDE6C	10	95385365	Nonsense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		95385365	40149382	27	40746											
OR4A16	81327	broad.mit.edu	37	chr11	55111136	55111136	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattggaggttttgtgcacTctgtggttcaaattgtcttt	6	19	11	5	0	3	1	1	1	2	0	3	2	3	2	0	3	1	3	0	3	1	6			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:55111136T>G	ENST00000314721.2	+	1	510	c.460T>G	c.(460-462)Tct>Gct	p.S154A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	154					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGTGCACTCTGTGGTTCA	0.453													G	55111136	T	G	55111136	3	3	399	1	0	0	0	0	1	0	0	0	11117	1551	54	5	462	5	OR4A16	11	55111136	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		55111136	79895380	28	40747											
RNASEH2C	84153	broad.mit.edu	37	chr11	65487791	65487793	+	In_Frame_Del	DEL	CTT	CTT	-																															tctggcttccccatcgacacCttcttctcttctgtcaccat																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:65487791_65487793delCTT	ENST00000308418.4	-	2	456_458	c.268_270delAAG	c.(268-270)aagdel	p.K90del	RNASEH2C_ENST00000528220.1_In_Frame_Del_p.K7del|RNASEH2C_ENST00000527610.1_In_Frame_Del_p.K90del	NM_032193.3	NP_115569.2	Q8TDP1	RNH2C_HUMAN	ribonuclease H2, subunit C	90					RNA catabolic process	nucleus|ribonuclease H2 complex				cervix(1)	1						CCATCGACACCTTCTTCTCTTCT	0.621													-	65487793	CTT	-	65487791	7	5	399	1	0	1	0	1	0	0	0	0	13505	680	24	0	236	0	RNASEH2C	11	65487791	In_Frame_Del	DEL	CTT	TCGA-DU-7301-01A-11D-2086-08	10376655	65487791	69518725	29	40748											
TRPC6	7225	broad.mit.edu	37	chr11	101375482	101375482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaccttctccccttctcaCggagaactgtctgccgccgg	6	10	8	17	3	3	1	1	0	3	1	5	2	3	1	5	2	3	0	5	2	2	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:101375482C>T	ENST00000344327.3	-	2	642	c.218G>A	c.(217-219)cGt>cAt	p.R73H	TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000348423.4_Missense_Mutation_p.R73H|TRPC6_ENST00000532133.1_Missense_Mutation_p.R73H|TRPC6_ENST00000360497.4_Missense_Mutation_p.R73H	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	73					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CCCCTTCTCACGGAGAACTGT	0.463													T	101375482	C	T	101375482	3	4	399	1	0	0	0	0	1	0	0	0	16684	536	19	1	2625	1	TRPC6	11	101375482	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08	35887691	101375482	33631034	30	40749											
NLRX1	79671	broad.mit.edu	37	chr11	119050958	119050958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctagatcctgctgggctgcGcacactcctgcctgtcttcc	4	11	10	16	1	1	1	0	0	1	1	4	1	4	1	4	1	3	4	4	1	1	2	rs151306288		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr11:119050958G>A	ENST00000409109.1	+	7	2815	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H	NLRX1_ENST00000409265.4_Missense_Mutation_p.R743H|NLRX1_ENST00000525863.1_Missense_Mutation_p.R743H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R743H|NLRX1_ENST00000292199.2_Missense_Mutation_p.R743H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	743	Required for the repression of MAVS- induced interferon signaling.				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		GCTGGGCTGCGCACACTCCTG	0.612													A	119050958	G	A	119050958	3	1	399	1	0	0	0	0	1	0	0	0	10561	1087	38	1	2250	1	NLRX1	11	119050958	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	17675476	119050958	15955558	31	40750											
CLEC9A	283420	broad.mit.edu	37	chr12	10215755	10215755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaccagtcaagagaatTgtttaaaggaaggttccacg	14	8	11	8	1	1	1	1	0	0	1	2	3	2	2	2	3	0	3	2	3	5	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:10215755T>C	ENST00000355819.1	+	7	1034	c.421T>C	c.(421-423)Tgt>Cgt	p.C141R		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	141	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TCAAGAGAATTGTTTAAAGGA	0.368													C	10215755	T	C	10215755	3	2	399	1	0	0	0	0	1	0	0	0	3553	1812	63	3	435	3	CLEC9A	12	10215755	Missense_Mutation	SNP	T	TCGA-DU-7301-01A-11D-2086-08		10215755	123636140	32	40751											
LGR5	8549	broad.mit.edu	37	chr12	71978154	71978154	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggctttcttgtccttctcCtctttaataaaccttacatt	7	19	4	11	0	3	0	0	0	3	0	5	0	4	0	3	1	2	1	3	1	4	8	rs147161623		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:71978154C>G	ENST00000266674.5	+	18	2675	c.2364C>G	c.(2362-2364)tcC>tcG	p.S788S	LGR5_ENST00000540815.2_Silent_p.S764S|LGR5_ENST00000536515.1_Silent_p.S716S			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	788						integral to plasma membrane	protein-hormone receptor activity		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGTCCTTCTCCTCTTTAATAA	0.428													G	71978154	C	G	71978154	2	3	399	1	0	0	0	0	0	0	0	1	8817	668	24	4		4	LGR5	12	71978154	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08	61762399	71978154	61873741	33	40752											
CCDC60	160777	broad.mit.edu	37	chr12	119961500	119961500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttatctgtgtccacagccGcactaattgtgacatcaaca	11	12	6	12	1	3	1	1	1	2	0	4	1	4	1	2	0	2	1	2	0	3	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr12:119961500G>A	ENST00000327554.2	+	11	1571	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	369										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GTCCACAGCCGCACTAATTGT	0.567													A	119961500	G	A	119961500	3	1	399	1	0	0	0	0	1	0	0	0	2859	1087	38	1	1148	1	CCDC60	12	119961500	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	47983346	119961500	13890395	34	40753											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:7578524G>C	ENST00000420246.2	-	5	538	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			C	7578524	G	C	7578524	3	2	399	1	0	0	0	0	1	0	0	0	16482	1357	47	4	892	4	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		7578524	73616686	35	40754											
FAM117A	81558	broad.mit.edu	37	chr17	47841412	47841412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccgcgccccggcccccagGcacctccgcctctgccgccc	2	4	9	26	5	1	0	0	0	1	0	3	0	3	0	10	2	1	1	10	2	0	0			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr17:47841412G>A	ENST00000240364.2	-	1	117	c.38C>T	c.(37-39)gCc>gTc	p.A13V	FAM117A_ENST00000514018.1_Intron|FAM117A_ENST00000513602.1_Intron	NM_030802.3	NP_110429.1	Q9C073	F117A_HUMAN	family with sequence similarity 117, member A	13										haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	17						cggcccccaggcacctccgcc	0.816													A	47841412	G	A	47841412	3	1	399	1	0	0	0	0	1	0	0	0	5454	1203	42	2	1355	2	FAM117A	17	47841412	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	40262888	47841412	33353798	36	40755											
DSG3	1830	broad.mit.edu	37	chr18	29054105	29054105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtttgtacaaatacgtatgCcagaggcacagcggtggaag	13	8	13	7	2	0	1	0	0	0	1	0	2	0	2	1	3	4	4	1	3	5	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr18:29054105C>T	ENST00000257189.4	+	15	2206	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	708					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			AATACGTATGCCAGAGGCACA	0.438													T	29054105	C	T	29054105	3	4	399	1	0	0	0	0	1	0	0	0	4817	739	26	2	2181	2	DSG3	18	29054105	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		29054105	49023143	37	40756											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396179	42396179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctggacttctaccacagcttCctggagaagacagcggtgag	10	8	12	11	1	1	3	0	1	1	2	2	5	2	4	2	3	3	1	2	3	2	3			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42396179C>T	ENST00000599846.1	+	5	434	c.309C>T	c.(307-309)ttC>ttT	p.F103F	ARHGEF1_ENST00000596957.1_3'UTR|ARHGEF1_ENST00000354532.3_Silent_p.F103F|ARHGEF1_ENST00000347545.4_Intron|ARHGEF1_ENST00000378152.4_Intron|ARHGEF1_ENST00000337665.4_Silent_p.F118F			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	103	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		ACCACAGCTTCCTGGAGAAGA	0.612													T	42396179	C	T	42396179	2	4	399	1	0	0	0	0	0	0	0	1	896	854	30	2		2	ARHGEF1	19	42396179	Silent	SNP	C	TCGA-DU-7301-01A-11D-2086-08		42396179	16732804	38	40757											
MEGF8	1954	broad.mit.edu	37	chr19	42857651	42857651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagcactgcgaacgatgccgGcccggcagcttcggcaacgc	8	4	14	15	6	0	0	0	0	0	0	1	3	0	0	2	3	6	4	2	3	2	1			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:42857651G>A	ENST00000334370.4	+	20	4019	c.3384G>A	c.(3382-3384)cgG>cgA	p.R1128R	MEGF8_ENST00000251268.6_Silent_p.R1195R	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	1195						integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				AACGATGCCGGCCCGGCAGCT	0.682													A	42857651	G	A	42857651	2	1	399	1	0	0	0	0	0	0	0	1	9538	1190	42	2		2	MEGF8	19	42857651	Silent	SNP	G	TCGA-DU-7301-01A-11D-2086-08	461472	42857651	16271332	39	40758											
TMC4	147798	broad.mit.edu	37	chr19	54672374	54672376	+	In_Frame_Del	DEL	AGA	AGA	-																															gagcaggaagcgcagcagggAgaagtaggactccgtgccgg																								rs143105109		TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr19:54672374_54672376delAGA	ENST00000376591.4	-	4	622_624	c.491_493delTCT	c.(490-495)ttctcc>tcc	p.F164del	TMC4_ENST00000476013.2_5'UTR|TMC4_ENST00000301187.4_In_Frame_Del_p.F158del	NM_001145303.1|NM_144686.2	NP_001138775|NP_653287.2	Q7Z404	TMC4_HUMAN	transmembrane channel-like 4	164						integral to membrane				breast(2)|endometrium(7)|large_intestine(4)|lung(6)|pancreas(1)|skin(1)|urinary_tract(1)	22	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					CGCAGCAGGGAGAAGTAGGACTC	0.67											OREG0025670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	54672376	AGA	-	54672374	7	5	399	1	0	1	0	1	0	0	0	0	16087	304	11	0	1693	0	TMC4	19	54672374	In_Frame_Del	DEL	AGA	TCGA-DU-7301-01A-11D-2086-08	11814723	54672374	4456609	40	40759											
DHX35	60625	broad.mit.edu	37	chr20	37591029	37591029	+	Frame_Shift_Del	DEL	C	C	-																															acatggctgcgcccgtgggaCcggtgaagttctggcgaccc																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr20:37591029delC	ENST00000252011.3	+	1	52	c.19delC	c.(19-21)ccgfs	p.P7fs	DHX35_ENST00000373325.2_Frame_Shift_Del_p.P7fs|DHX35_ENST00000373323.4_Frame_Shift_Del_p.P7fs	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	7						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GCCCGTGGGACCGGTGAAGTT	0.721													-	37591029	C	-	37591029	7	5	399	1	0	1	0	1	0	0	0	0	4547	507	18	0	21	0	DHX35	20	37591029	Frame_Shift_Del	DEL	C	TCGA-DU-7301-01A-11D-2086-08		37591029	25434491	41	40760											
SAMSN1	64092	broad.mit.edu	37	chr21	15893493	15893493	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaatcatctggttttGataaagaattattccgaaaa	15	14	7	5	1	2	3	1	2	1	1	3	4	3	3	1	1	0	2	1	1	7	6			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr21:15893493G>T	ENST00000285670.2	-	3	485	c.311C>A	c.(310-312)tCa>tAa	p.S104*	SAMSN1_ENST00000400566.1_Nonsense_Mutation_p.S36*|SAMSN1_ENST00000400564.1_Intron	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	36					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		ATCTGGTTTTGATAAAGAATT	0.299													T	15893493	G	T	15893493	4	4	399	1	0	0	0	0	0	1	0	0	13921	1294	45	4	1042	4	SAMSN1	21	15893493	Nonsense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08		15893493	32236402	42	40761											
CHEK2	11200	broad.mit.edu	37	chr22	29090043	29090043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccacgggtgtcttaaggCttcttctgtcgtaaaacgtg	9	12	11	9	3	3	0	0	0	3	0	4	0	3	0	1	2	2	2	1	2	4	4			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:29090043C>T	ENST00000544772.1	-	14	2211	c.775G>A	c.(775-777)Gcc>Acc	p.A259T	CHEK2_ENST00000328354.6_Missense_Mutation_p.A480T|CHEK2_ENST00000402731.1_Missense_Mutation_p.A451T|CHEK2_ENST00000382565.1_Intron|CHEK2_ENST00000403642.1_Missense_Mutation_p.A389T|CHEK2_ENST00000382580.2_Missense_Mutation_p.A523T|CHEK2_ENST00000382578.1_Missense_Mutation_p.A389T|CHEK2_ENST00000405598.1_Missense_Mutation_p.A480T|CHEK2_ENST00000404276.1_Missense_Mutation_p.A480T|CHEK2_ENST00000382566.1_3'UTR|CHEK2_ENST00000348295.3_Missense_Mutation_p.A451T	NM_001257387.1	NP_001244316.1	O96017	CHK2_HUMAN	checkpoint kinase 2	480	Protein kinase.				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			central_nervous_system(17)|endometrium(2)|kidney(11)|large_intestine(2)|lung(11)|ovary(1)|prostate(4)|stomach(2)	50						TGTCTTAAGGCTTCTTCTGTC	0.488			F			breast		Direct reversal of damage;Other conserved DNA damage response genes					T	29090043	C	T	29090043	3	4	399	1	0	0	0	0	1	0	0	0	3365	797	28	2	205	2	CHEK2	22	29090043	Missense_Mutation	SNP	C	TCGA-DU-7301-01A-11D-2086-08		29090043	22214523	43	40762											
MAPK12	6300	broad.mit.edu	37	chr22	50693717	50693717	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccgtgtcgtgcagggactcGaagtagggatgggccagcgc	7	7	17	10	4	0	0	0	0	0	0	3	3	1	2	2	3	2	2	2	3	2	1			TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chr22:50693717G>C	ENST00000215659.8	-	11	1248	c.933C>G	c.(931-933)ttC>ttG	p.F311L	MAPK12_ENST00000395780.1_Missense_Mutation_p.F221L|MAPK12_ENST00000497036.1_5'UTR	NM_002969.3	NP_002960.2	P53778	MK12_HUMAN	mitogen-activated protein kinase 12	311	Protein kinase.				cell cycle arrest|DNA damage induced protein phosphorylation|muscle organ development|myoblast differentiation|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction	mitochondrion|nucleoplasm	ATP binding|magnesium ion binding|MAP kinase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GCAGGGACTCGAAGTAGGGAT	0.612													C	50693717	G	C	50693717	3	2	399	1	0	0	0	0	1	0	0	0	9349	1049	37	4	178	4	MAPK12	22	50693717	Missense_Mutation	SNP	G	TCGA-DU-7301-01A-11D-2086-08	21603674	50693717	610849	44	40763											
ATRX	546	broad.mit.edu	37	chrX	76938271	76938272	+	Frame_Shift_Del	DEL	TT	TT	-																															caccaattttactcatgctcTttatctctttttctaattct																										TCGA-DU-7301-01A-11D-2086-08	TCGA-DU-7301-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ba94c29b-b76e-4d67-bf5a-ce6bc45d85f8	536cb58b-852c-491a-94f7-ffbea4c98871	g.chrX:76938271_76938272delTT	ENST00000373344.5	-	9	2690_2691	c.2476_2477delAA	c.(2476-2478)aagfs	p.K826fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K788fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	826					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)	actcatgctctttatctctttt	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938272	TT	-	76938271	7	5	399	1	0	1	0	1	0	0	0	0	1213	1609	56	0	5109	0	ATRX	23	76938271	Frame_Shift_Del	DEL	TT	TCGA-DU-7301-01A-11D-2086-08		76938271	78332289	45	40764											
HSPG2	3339	broad.mit.edu	37	chr1	22198783	22198783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcgggcacgggttccaCagtgaattctcctgtcaggc	7	9	11	14	2	2	1	1	1	1	0	5	1	3	1	3	3	0	2	3	3	1	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:22198783C>T	ENST00000374695.3	-	33	4196	c.4117G>A	c.(4117-4119)Gtg>Atg	p.V1373M		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	1373	Laminin IV type A 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACGGGTTCCACAGTGAATTCT	0.592													T	22198783	C	T	22198783	3	4	400	1	0	0	0	0	1	0	0	0	7488	478	17	2	9318	2	HSPG2	1	22198783	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		22198783	227051838	1	40765											
FASLG	356	broad.mit.edu	37	chr1	172628634	172628634	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttgccttggtaggattggGcctggggatgtttcagctct	4	14	16	7	0	2	0	1	0	1	0	2	2	2	2	2	6	2	4	2	6	1	5			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr1:172628634G>T	ENST00000367721.2	+	1	477	c.293G>T	c.(292-294)gGc>gTc	p.G98V	FASLG_ENST00000340030.3_Missense_Mutation_p.G98V	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	98					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTAGGATTGGGCCTGGGGATG	0.572													T	172628634	G	T	172628634	3	4	400	1	0	0	0	0	1	0	0	0	5731	1203	42	4	295	4	FASLG	1	172628634	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	150429851	172628634	76621987	2	40766											
APOB	338	broad.mit.edu	37	chr2	21227213	21227213	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatgcccacggtgcctacGgctggggaggctgctgaggt	5	8	16	12	2	0	1	0	1	0	0	1	2	1	2	3	6	4	3	3	6	1	1			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:21227213G>A	ENST00000233242.1	-	28	12142	c.12015C>T	c.(12013-12015)gcC>gcT	p.A4005A		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4005					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGGTGCCTACGGCTGGGGAGG	0.507													A	21227213	G	A	21227213	2	1	400	1	0	0	0	0	0	0	0	1	788	1103	39	1		1	APOB	2	21227213	Silent	SNP	G	TCGA-DU-7302-01A-11D-2086-08		21227213	221972160	3	40767											
ADCY3	109	broad.mit.edu	37	chr2	25062839	25062839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggacgccccccagcaCggtgcccgtgtgcaccccca	6	3	11	21	3	0	0	0	0	0	0	0	1	0	1	7	2	3	2	7	2	0	0			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:25062839C>T	ENST00000260600.5	-	6	2109	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	ADCY3_ENST00000405392.1_Missense_Mutation_p.V31M	NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	420					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding	p.V420M(1)		NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					CCCCCCAGCACGGTGCCCGTG	0.642													T	25062839	C	T	25062839	3	4	400	1	0	0	0	0	1	0	0	0	295	536	19	1	2240	1	ADCY3	2	25062839	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	3835626	25062839	218136534	4	40768											
TRIM54	57159	broad.mit.edu	37	chr2	27522276	27522276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgcccaccatttacaaaCgccagaaggtatcaaacagg	15	6	7	13	1	1	1	1	0	0	1	1	1	1	1	3	2	4	1	3	2	5	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:27522276C>T	ENST00000296098.4	+	3	775	c.505C>T	c.(505-507)Cgc>Tgc	p.R169C	TRIM54_ENST00000380075.2_Missense_Mutation_p.R169C	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	169	Mediates microtubule-binding and homooligomerization (By similarity).				cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATTTACAAACGCCAGAAGGT	0.522													T	27522276	C	T	27522276	3	4	400	1	0	0	0	0	1	0	0	0	16629	536	19	1	515	1	TRIM54	2	27522276	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	2459437	27522276	215677097	5	40769											
BRE	9577	broad.mit.edu	37	chr2	28210865	28210865	+	Frame_Shift_Del	DEL	A	A	-																															tttcttttatttcaggggatAtcattttcaatgcccaatac																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:28210865delA	ENST00000344773.2	+	4	349	c.211delA	c.(211-213)atcfs	p.I72fs	BRE_ENST00000361704.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000603461.1_3'UTR|BRE_ENST00000342045.2_Frame_Shift_Del_p.I72fs|BRE_ENST00000379624.1_Frame_Shift_Del_p.I72fs|BRE_ENST00000379632.2_Frame_Shift_Del_p.I72fs	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	72	UEV-like 1.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					TTCAGGGGATATCATTTTCAA	0.378													-	28210865	A	-	28210865	7	5	400	1	0	1	0	1	0	0	0	0	1518	449	16	0	221	0	BRE	2	28210865	Frame_Shift_Del	DEL	A	TCGA-DU-7302-01A-11D-2086-08	688589	28210865	214988508	6	40770											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	400	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	180902247	209113112	34086261	7	40771											
GBX2	2637	broad.mit.edu	37	chr2	237076427	237076429	+	In_Frame_Del	DEL	GGC	GGC	-																															gcgcggcctggggcagcgcgGgcggcggcggcggcggcggc																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr2:237076427_237076429delGGC	ENST00000306318.4	-	1	583_585	c.186_188delGCC	c.(184-189)ccgccc>ccc	p.62_63PP>P	AC079135.1_ENST00000415226.1_RNA|GBX2_ENST00000551105.1_In_Frame_Del_p.62_63PP>P|AC079135.1_ENST00000483218.1_RNA	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	62	Poly-Pro.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		GGGCAGCGCGggcggcggcggcg	0.754													-	237076429	GGC	-	237076427	7	5	400	1	0	1	0	1	0	0	0	0	6335	1232	43	0	866	0	GBX2	2	237076427	In_Frame_Del	DEL	GGC	TCGA-DU-7302-01A-11D-2086-08	27963315	237076427	6122946	8	40772											
FLNB	2317	broad.mit.edu	37	chr3	58095050	58095050	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcccgcacagcccctacaggGtaggttgtgaggcagaatcc	9	7	12	13	1	0	2	0	1	0	1	2	2	2	2	4	3	2	4	4	3	3	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr3:58095050G>C	ENST00000357272.4	+	14	2364		c.e14+1		FLNB_ENST00000490882.1_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000429972.2_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCCCTACAGGGTAGGTTGTGA	0.552													C	58095050	G	C	58095050	5	2	400	1	0	0	0	0	0	0	1	0	5983	1275	44	4	2254	4	FLNB	3	58095050	Splice_Site	SNP	G	TCGA-DU-7302-01A-11D-2086-08		58095050	139927380	9	40773											
TIMD4	91937	broad.mit.edu	37	chr5	156378778	156378778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcgtgtggtggtggttgCtgttctgtgcgtggttgttg	0	18	18	5	2	2	0	0	0	2	0	2	0	2	0	0	4	3	5	0	4	0	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr5:156378778C>T	ENST00000274532.2	-	3	480	c.424G>A	c.(424-426)Gca>Aca	p.A142T	TIMD4_ENST00000407087.3_Missense_Mutation_p.A142T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	142	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTGGTGGTTGCTGTTCTGTGC	0.502													T	156378778	C	T	156378778	3	4	400	1	0	0	0	0	1	0	0	0	16003	797	28	2	740	2	TIMD4	5	156378778	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		156378778	24536482	10	40774											
JARID2	3720	broad.mit.edu	37	chr6	15504753	15504755	+	In_Frame_Del	DEL	CTT	CTT	-																															aaggtctgtttctctaacaaCtttttatcgaacagcgagga																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:15504753_15504755delCTT	ENST00000341776.2	+	9	2715_2717	c.2471_2473delCTT	c.(2470-2475)actttt>att	p.824_825TF>I	JARID2_ENST00000474854.1_3'UTR|JARID2_ENST00000397311.3_In_Frame_Del_p.652_653TF>I|JARID2_ENST00000541660.1_In_Frame_Del_p.786_787TF>I	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	824					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				TCTCTAACAACTTTTTATCGAAC	0.483													-	15504755	CTT	-	15504753	7	5	400	1	0	1	0	1	0	0	0	0	8003	565	20	0	2505	0	JARID2	6	15504753	In_Frame_Del	DEL	CTT	TCGA-DU-7302-01A-11D-2086-08		15504753	155610314	11	40775											
ZNF292	23036	broad.mit.edu	37	chr6	87965943	87965944	+	Frame_Shift_Del	DEL	GA	GA	-																															agaacacagcagagaatattGagaaagaaagatctatgctt																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87965943_87965944delGA	ENST00000369577.3	+	8	2639_2640	c.2596_2597delGA	c.(2596-2598)gagfs	p.E866fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E861fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	866					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AGAGAATATTGAGAAAGAAAGA	0.401													-	87965944	GA	-	87965943	7	5	400	1	0	1	0	1	0	0	0	0	17927	1291	45	0	2626	0	ZNF292	6	87965943	Frame_Shift_Del	DEL	GA	TCGA-DU-7302-01A-11D-2086-08	72461190	87965943	83149124	12	40776											
ZNF292	23036	broad.mit.edu	37	chr6	87966376	87966377	+	Frame_Shift_Del	DEL	CT	CT	-																															ttctttagtaaattcagaaaCtctcaaaataggtgacctta																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr6:87966376_87966377delCT	ENST00000369577.3	+	8	3072_3073	c.3029_3030delCT	c.(3028-3030)actfs	p.T1010fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.T1005fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1010					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		AATTCAGAAACTCTCAAAATAG	0.356													-	87966377	CT	-	87966376	7	5	400	1	0	1	0	1	0	0	0	0	17927	565	20	0	3059	0	ZNF292	6	87966376	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08	433	87966376	83148691	13	40777											
SPDYE1	285955	broad.mit.edu	37	chr7	44042300	44042301	+	Frame_Shift_Del	DEL	CT	CT	-																															gccacggaaggtgctcgcccCtgagcctgaggagatctggg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:44042300_44042301delCT	ENST00000258704.3	+	2	508_509	c.371_372delCT	c.(370-372)cctfs	p.P124fs	RP5-1165K10.2_ENST00000454572.1_RNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	124										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						GTGCTCGCCCCTGAGCCTGAGG	0.614													-	44042301	CT	-	44042300	7	5	400	1	0	1	0	1	0	0	0	0	15125	681	24	0	377	0	SPDYE1	7	44042300	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08		44042300	115096363	14	40778											
SUMF2	25870	broad.mit.edu	37	chr7	56145816	56145816	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttccccaagggagacAaagctgaggatggcttccat	13	7	12	9	0	0	2	0	1	0	1	2	5	2	3	3	3	1	3	3	3	3	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:56145816A>T	ENST00000434526.2	+	7	701	c.670A>T	c.(670-672)Aaa>Taa	p.K224*	SUMF2_ENST00000275607.9_Nonsense_Mutation_p.K117*|SUMF2_ENST00000413756.1_Nonsense_Mutation_p.K205*|SUMF2_ENST00000437307.2_Nonsense_Mutation_p.K136*|SUMF2_ENST00000395435.2_Nonsense_Mutation_p.K140*|SUMF2_ENST00000395436.2_Nonsense_Mutation_p.K209*|SUMF2_ENST00000342190.6_Nonsense_Mutation_p.K224*	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	205						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CAAGGGAGACAAAGCTGAGGA	0.532													T	56145816	A	T	56145816	4	4	400	1	0	0	0	0	0	1	0	0	15482	131	5	5	696	5	SUMF2	7	56145816	Nonsense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	12103516	56145816	102992847	15	40779											
ASL	435	broad.mit.edu	37	chr7	65554152	65554155	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															ccggagcaaggctgggcgtgTgtttgggcgggtgagcaagg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:65554152_65554155delTGTT	ENST00000304874.9	+	12	1010_1013	c.908_911delTGTT	c.(907-912)gtgtttfs	p.VF303fs	ASL_ENST00000395332.3_Frame_Shift_Del_p.VF303fs|ASL_ENST00000395331.3_Frame_Shift_Del_p.VF303fs|ASL_ENST00000380839.4_Frame_Shift_Del_p.VF277fs|AC068533.7_ENST00000450043.1_Frame_Shift_Del_p.CV71fs	NM_000048.3	NP_000039.2	P04424	ARLY_HUMAN	argininosuccinate lyase	303					arginine biosynthetic process via ornithine|arginine catabolic process|urea cycle	cytosol	argininosuccinate lyase activity			breast(3)|endometrium(3)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	18					L-Arginine(DB00125)	GCTGGGCGTGTGTTTGGGCGGGTG	0.672													-	65554155	TGTT	-	65554152	7	5	400	1	0	1	0	1	0	0	0	0	1049	1696	59	0	950	0	ASL	7	65554152	Frame_Shift_Del	DEL	TGTT	TCGA-DU-7302-01A-11D-2086-08	9408336	65554152	93584511	16	40780											
GNAI1	2770	broad.mit.edu	37	chr7	79846804	79846805	+	Frame_Shift_Del	DEL	TT	TT	-																															atctaaaagattgtggtctcTtttaagttttgcagttcatg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr7:79846804_79846805delTT	ENST00000351004.3	+	8	1433_1434	c.1060_1061delTT	c.(1060-1062)tttfs	p.F354fs	GNAI1_ENST00000457358.2_Frame_Shift_Del_p.F302fs	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	354					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						TTGTGGTCTCTTTTAAGTTTTG	0.342													-	79846805	TT	-	79846804	7	5	400	1	0	1	0	1	0	0	0	0	6560	1609	56	0	1090	0	GNAI1	7	79846804	Frame_Shift_Del	DEL	TT	TCGA-DU-7302-01A-11D-2086-08	14292652	79846804	79291859	17	40781											
CLU	1191	broad.mit.edu	37	chr8	27466456	27466459	+	Splice_Site	DEL	TCTT	TCTT	-																															ggtagcggctcctcctgaccTctttcttcttcttggcttct																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr8:27466456_27466459delTCTT	ENST00000316403.10	-	3	647_650	c.242_245delAAGA	c.(241-246)aaagag>ag	p.KE81fs	CLU_ENST00000405140.3_Splice_Site_p.KE81fs|CLU_ENST00000560366.1_Splice_Site_p.KE133fs|CLU_ENST00000546343.1_Splice_Site_p.KE92fs|CLU_ENST00000523500.1_Splice_Site_p.KE81fs			P10909	CLUS_HUMAN	clusterin	81					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CCTCCTGACCTCTTTCTTCTTCTT	0.559													-	27466459	TCTT	-	27466456	8	5	400	1	0	1	0	1	0	0	1	0	3599	1565	54	0	1132	0	CLU	8	27466456	Splice_Site	DEL	TCTT	TCGA-DU-7302-01A-11D-2086-08		27466456	118897566	18	40782											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	400	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-7302-01A-11D-2086-08		139413070	1800361	19	40783											
LRRC18	474354	broad.mit.edu	37	chr10	50122058	50122058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtccatgtcactaaggCgcagaatacacttggggaag	11	8	12	10	2	1	1	1	0	0	1	3	2	2	2	1	3	1	2	1	3	4	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:50122058C>T	ENST00000374160.3	-	1	219	c.143G>A	c.(142-144)cGc>cAc	p.R48H	RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000325239.5_Intron|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.R48H	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	48						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						GTCACTAAGGCGCAGAATACA	0.507													T	50122058	C	T	50122058	3	4	400	1	0	0	0	0	1	0	0	0	9044	768	27	1	650	1	LRRC18	10	50122058	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		50122058	85412689	20	40784											
CDH23	64072	broad.mit.edu	37	chr10	73544798	73544798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacagtggctgcaatgcaCgcctcaccttcaacatcact	10	9	7	15	1	3	1	3	1	0	0	3	1	3	1	2	1	3	3	2	1	2	1			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:73544798C>T	ENST00000224721.6	+	42	5673	c.5668C>T	c.(5668-5670)Cgc>Tgc	p.R1890C		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1885	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CTGCAATGCACGCCTCACCTT	0.602													T	73544798	C	T	73544798	3	4	400	1	0	0	0	0	1	0	0	0	3138	536	19	1	6164	1	CDH23	10	73544798	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	23422740	73544798	61989949	21	40785											
GLUD1	2746	broad.mit.edu	37	chr10	88819949	88819949	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgtttctctccaggaagAtcttgtcagcttctggagtt	8	16	9	8	0	4	1	1	0	3	1	6	3	5	3	1	2	1	3	1	2	2	5			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:88819949A>C	ENST00000277865.4	-	9	1343	c.1247T>G	c.(1246-1248)aTc>aGc	p.I416S	GLUD1_ENST00000544149.1_Missense_Mutation_p.I283S|GLUD1_ENST00000537649.1_Missense_Mutation_p.I249S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	416					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTCCAGGAAGATCTTGTCAGC	0.398													C	88819949	A	C	88819949	3	2	400	1	0	0	0	0	1	0	0	0	6532	333	12	5	449	5	GLUD1	10	88819949	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	15275151	88819949	46714798	22	40786											
CNNM2	54805	broad.mit.edu	37	chr10	104809481	104809481	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtaaatctcacctggctAtcgtgcagcgggtaaacaat	13	9	10	9	2	1	0	1	0	1	0	3	0	1	0	1	3	3	4	1	3	7	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr10:104809481A>G	ENST00000369878.4	+	2	1827	c.1639A>G	c.(1639-1641)Atc>Gtc	p.I547V	CNNM2_ENST00000433628.2_Missense_Mutation_p.I547V	NM_017649.4	NP_060119.3	Q9H8M5	CNNM2_HUMAN	cyclin M2		CBS 2.				ion transport	integral to membrane				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|urinary_tract(1)	19		Colorectal(252;0.103)|all_hematologic(284;0.152)|Breast(234;0.198)		Epithelial(162;7.89e-09)|all cancers(201;1.82e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		TCACCTGGCTATCGTGCAGCG	0.378													G	104809481	A	G	104809481	3	3	400	1	0	0	0	0	1	0	0	0	3644	449	16	3	1687	3	CNNM2	10	104809481	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	15989532	104809481	30725266	23	40787											
ANO9	338440	broad.mit.edu	37	chr11	418481	418483	+	In_Frame_Del	DEL	TCT	TCT	-																															cctctgccttccatgccacaTcttctcacgcagcctctggt																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:418481_418483delTCT	ENST00000332826.6	-	23	2321_2323	c.2237_2239delAGA	c.(2236-2241)aagatg>atg	p.K746del		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	746						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CCATGCCACATCTTCTCACGCAG	0.621													-	418483	TCT	-	418481	7	5	400	1	0	1	0	1	0	0	0	0	704	1435	50	0	113	0	ANO9	11	418481	In_Frame_Del	DEL	TCT	TCGA-DU-7302-01A-11D-2086-08		418481	134588035	24	40788											
NDUFS3	4722	broad.mit.edu	37	chr11	47603920	47603922	+	In_Frame_Del	DEL	TCT	TCT	-																															gatctgggacatgtttggagTcttctttgctaaccaccctg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:47603920_47603922delTCT	ENST00000263774.4	+	6	609_611	c.527_529delTCT	c.(526-531)gtcttc>gtc	p.F178del	NDUFS3_ENST00000533507.1_3'UTR	NM_004551.2	NP_004542.1	O75489	NDUS3_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)	178					induction of apoptosis|mitochondrial electron transport, NADH to ubiquinone|negative regulation of cell growth|reactive oxygen species metabolic process|transport	mitochondrial respiratory chain complex I	electron carrier activity|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)	9					NADH(DB00157)	ATGTTTGGAGTCTTCTTTGCTAA	0.483													-	47603922	TCT	-	47603920	7	5	400	1	0	1	0	1	0	0	0	0	10369	1667	58	0	549	0	NDUFS3	11	47603920	In_Frame_Del	DEL	TCT	TCGA-DU-7302-01A-11D-2086-08	47185439	47603920	87402596	25	40789											
SNX32	254122	broad.mit.edu	37	chr11	65618541	65618543	+	In_Frame_Del	DEL	TTT	TTT	-																															cttaggaggtggatgacttcTttgagcatgagaggaccttc																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:65618541_65618543delTTT	ENST00000308342.6	+	7	1044_1046	c.619_621delTTT	c.(619-621)tttdel	p.F207del		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	207					cell communication|protein transport		phosphatidylinositol binding			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		GGATGACTTCTTTGAGCATGAGA	0.596													-	65618543	TTT	-	65618541	7	5	400	1	0	1	0	1	0	0	0	0	14996	1609	56	0	645	0	SNX32	11	65618541	In_Frame_Del	DEL	TTT	TCGA-DU-7302-01A-11D-2086-08	18014621	65618541	69387975	26	40790											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	400	1	0	1	0	1	0	0	0	0	3894	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-7302-01A-11D-2086-08	19756701	85375242	49631274	27	40791											
CCDC89	220388	broad.mit.edu	37	chr11	85397064	85397064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagttccttaaactccGtctcctcttcctggttgttc	4	16	6	15	2	2	0	0	0	2	0	8	0	6	0	5	1	1	3	5	1	2	5			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:85397064G>A	ENST00000316398.3	-	1	256	c.110C>T	c.(109-111)aCg>aTg	p.T37M		NM_152723.1	NP_689936.1	Q8N998	CCD89_HUMAN	coiled-coil domain containing 89	37						cytoplasm|nucleus				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	15		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				CTTAAACTCCGTCTCCTCTTC	0.552													A	85397064	G	A	85397064	3	1	400	1	0	0	0	0	1	0	0	0	2894	1145	40	1	1018	1	CCDC89	11	85397064	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	21822	85397064	49609452	28	40792											
RBM7	10179	broad.mit.edu	37	chr11	114278270	114278273	+	Frame_Shift_Del	DEL	TCAA	TCAA	-																															tcaatcacacagtcatagttTcaatcagtcttcaagctccc																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:114278270_114278273delTCAA	ENST00000540163.1	+	5	1184_1187	c.542_545delTCAA	c.(541-546)ttcaatfs	p.FN181fs	RBM7_ENST00000544582.1_Intron|RBM7_ENST00000541475.1_3'UTR|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000545678.1_Frame_Shift_Del_p.FN61fs|RBM7_ENST00000375490.5_Frame_Shift_Del_p.FN182fs			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	181					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTCATAGTTTCAATCAGTCTTCA	0.422													-	114278273	TCAA	-	114278270	7	5	400	1	0	1	0	1	0	0	0	0	13233	1783	62	0	560	0	RBM7	11	114278270	Frame_Shift_Del	DEL	TCAA	TCGA-DU-7302-01A-11D-2086-08	28881206	114278270	20728246	29	40793											
KCNJ1	3758	broad.mit.edu	37	chr11	128710111	128710111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcccaaaaaagcgagtgaCgacccatttccgaagatgtt	14	8	9	10	3	0	2	0	1	0	1	1	5	1	2	3	0	2	1	3	0	4	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr11:128710111C>T	ENST00000392665.2	-	2	172	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	KCNJ1_ENST00000392664.2_Missense_Mutation_p.V29I|KCNJ1_ENST00000392666.1_Missense_Mutation_p.V10I|KCNJ1_ENST00000324036.3_Missense_Mutation_p.V10I|KCNJ1_ENST00000440599.2_Missense_Mutation_p.V10I	NM_153764.2	NP_722448.1	P48048	IRK1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	29					excretion	voltage-gated potassium channel complex	ATP binding|inward rectifier potassium channel activity			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Acetohexamide(DB00414)|Chlorpropamide(DB00672)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Glimepiride(DB00222)|Glipizide(DB01067)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Nateglinide(DB00731)|Repaglinide(DB00912)|Tolazamide(DB00839)|Tolbutamide(DB01124)	AAGCGAGTGACGACCCATTTC	0.408													T	128710111	C	T	128710111	3	4	400	1	0	0	0	0	1	0	0	0	8101	536	19	1	1094	1	KCNJ1	11	128710111	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	14431841	128710111	6296405	30	40794											
VWF	7450	broad.mit.edu	37	chr12	6128787	6128787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtagaaatcgtgcaacGgcggttccgagatgtcctcc	9	9	12	11	4	0	2	0	0	0	2	4	3	3	2	3	2	3	4	3	2	3	2	rs61749370		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:6128787G>A	ENST00000261405.5	-	28	4051	c.3797C>T	c.(3796-3798)cCg>cTg	p.P1266L		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1266			P -> L (in VWD2).		blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ATCGTGCAACGGCGGTTCCGA	0.612													A	6128787	G	A	6128787	3	1	400	1	0	0	0	0	1	0	0	0	17348	1116	39	1	4744	1	VWF	12	6128787	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08		6128787	127723108	31	40795											
CIT	11113	broad.mit.edu	37	chr12	120151451	120151455	+	Splice_Site	DEL	ATTCT	ATTCT	-																															ggggtgacacatcacctgacAttctagggaagaacagtgag																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120151451_120151455delATTCT	ENST00000392521.2	-	34	4362_4364	c.4307_4309delAGAAT	c.(4306-4311)gagaat>gat	p.EN1436fs	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Splice_Site_p.EN1394fs|MIR1178_ENST00000408396.1_RNA	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1394					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATCACCTGACATTCTAGGGAAGAAC	0.61													-	120151455	ATTCT	-	120151451	8	5	400	1	0	1	0	1	0	0	1	0	3469	217	8	0	1960	0	CIT	12	120151451	Splice_Site	DEL	ATTCT	TCGA-DU-7302-01A-11D-2086-08	114022664	120151451	13700444	32	40796											
GATC	283459	broad.mit.edu	37	chr12	120894951	120894951	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactacaaaactcccatcgCgtcgtggaggagtactttgt	10	12	9	10	3	0	0	0	0	0	0	3	2	1	2	1	2	4	1	1	2	5	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr12:120894951C>T	ENST00000551806.1	+	4	421	c.421C>T	c.(421-423)Cgt>Tgt	p.R141C	GATC_ENST00000551765.1_Silent_p.R109R																							ACTCCCATCGCGTCGTGGAGG	0.478											OREG0022192	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	120894951	C	T	120894951	3	4	400	1	0	0	0	0	1	0	0	0	6316	755	27	1	337	1	GATC	12	120894951	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	743500	120894951	12956944	33	40797											
METTL3	56339	broad.mit.edu	37	chr14	21971404	21971406	+	In_Frame_Del	DEL	TTC	TTC	-																															aggcagcatgtttccttgatTtcttggctggctcctttgct																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr14:21971404_21971406delTTC	ENST00000298717.4	-	3	784_786	c.633_635delGAA	c.(631-636)aagaaa>aaa	p.211_212KK>K	METTL3_ENST00000538267.1_In_Frame_Del_p.R140del	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	211					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		TTTCCTTGATTTCTTGGCTGGCT	0.502													-	21971406	TTC	-	21971404	7	5	400	1	0	1	0	1	0	0	0	0	9576	1841	64	0	1143	0	METTL3	14	21971404	In_Frame_Del	DEL	TTC	TCGA-DU-7302-01A-11D-2086-08		21971404	85378136	34	40798											
TGM7	116179	broad.mit.edu	37	chr15	43584939	43584939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttaaaaagtaggatgaaaGttcccagcgggtaagtcaca	15	8	12	6	1	1	1	1	1	0	0	2	2	2	2	1	3	1	4	1	3	6	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:43584939G>A	ENST00000452443.2	-	3	411	c.407C>T	c.(406-408)aCt>aTt	p.T136I		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	136					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	TAGGATGAAAGTTCCCAGCGG	0.478													A	43584939	G	A	43584939	3	1	400	1	0	0	0	0	1	0	0	0	15935	1029	36	2	1769	2	TGM7	15	43584939	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08		43584939	58946453	35	40799											
ACSBG1	23205	broad.mit.edu	37	chr15	78475123	78475123	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgtggcaactgtttcCagatctgcattgacaggaaa	12	12	10	7	0	1	3	0	1	1	2	2	4	2	4	1	2	2	3	1	2	3	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr15:78475123C>T	ENST00000258873.4	-	6	873	c.668G>A	c.(667-669)tGg>tAg	p.W223*	ACSBG1_ENST00000541759.1_5'UTR|ACSBG1_ENST00000560817.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	223					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity	p.W223S(1)|p.W223*(1)		endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CAACTGTTTCCAGATCTGCAT	0.463													T	78475123	C	T	78475123	4	4	400	1	0	0	0	0	0	1	0	0	173	595	21	2	1542	2	ACSBG1	15	78475123	Nonsense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	34890184	78475123	24056269	36	40800											
TMEM8A	58986	broad.mit.edu	37	chr16	427459	427459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgggtgggaaacgttgacGgaggcattgcttctcggtgt	6	10	17	8	4	1	1	0	1	1	0	2	3	1	3	1	5	2	3	1	5	1	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:427459G>A	ENST00000431232.2	-	3	586	c.426C>T	c.(424-426)tcC>tcT	p.S142S	TMEM8A_ENST00000476735.1_5'UTR|TMEM8A_ENST00000250930.3_5'UTR	NM_021259.2	NP_067082.2	Q9HCN3	TMM8A_HUMAN	transmembrane protein 8A	142					cell adhesion	integral to plasma membrane				central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	14						AAACGTTGACGGAGGCATTGC	0.677											OREG0003703	type=REGULATORY REGION|Gene=TMEM8|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	427459	G	A	427459	2	1	400	1	0	0	0	0	0	0	0	1	16314	1103	39	1		1	TMEM8A	16	427459	Silent	SNP	G	TCGA-DU-7302-01A-11D-2086-08		427459	89927294	37	40801											
CES3	23491	broad.mit.edu	37	chr16	66997813	66997813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggttacagtccagtacCgccttggggtccttggcttc	4	13	12	12	2	0	0	0	0	0	0	4	0	2	0	4	4	2	3	4	4	2	5	rs148620443	byFrequency	TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:66997813C>T	ENST00000303334.4	+	4	606	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	CES3_ENST00000394037.1_Missense_Mutation_p.R179C	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	179						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		AGTCCAGTACCGCCTTGGGGT	0.607													T	66997813	C	T	66997813	3	4	400	1	0	0	0	0	1	0	0	0	3301	652	23	1	549	1	CES3	16	66997813	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	66570354	66997813	23356940	38	40802											
MVD	4597	broad.mit.edu	37	chr16	88719764	88719764	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggctccatggccagcgcagCctgaagctcagctgagagag	9	5	14	13	2	1	3	1	2	0	1	2	4	2	3	3	2	4	4	3	2	1	0			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr16:88719764C>A	ENST00000301012.3	-	9	1095	c.1066G>T	c.(1066-1068)Gct>Tct	p.A356S		NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	356					cholesterol biosynthetic process|positive regulation of cell proliferation	cytosol	ATP binding|diphosphomevalonate decarboxylase activity|Hsp70 protein binding|kinase activity|protein homodimerization activity			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCCAGCGCAGCCTGAAGCTCA	0.617													A	88719764	C	A	88719764	3	1	400	1	0	0	0	0	1	0	0	0	10070	739	26	4	144	4	MVD	16	88719764	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	21721951	88719764	1634989	39	40803											
MYH2	4620	broad.mit.edu	37	chr17	10432336	10432336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaggtcagagcgctgcttctCtgctttggcccgggaggccc	4	9	15	13	2	2	1	1	0	1	1	3	3	2	2	2	4	3	3	2	4	0	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:10432336C>T	ENST00000245503.5	-	27	3799	c.3415G>A	c.(3415-3417)Gag>Aag	p.E1139K	MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.E1139K|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1139					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CGCTGCTTCTCTGCTTTGGCC	0.582													T	10432336	C	T	10432336	3	4	400	1	0	0	0	0	1	0	0	0	10111	922	32	2	2466	2	MYH2	17	10432336	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		10432336	70762874	40	40804											
VAT1	10493	broad.mit.edu	37	chr17	41168124	41168126	+	In_Frame_Del	DEL	TTC	TTC	-																															ccaggaggaccttgcccacaTtcttcttctcctgcatctgt																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:41168124_41168126delTTC	ENST00000355653.3	-	6	1229_1231	c.1134_1136delGAA	c.(1132-1137)aagaat>aat	p.K378del	VAT1_ENST00000587173.1_In_Frame_Del_p.K310del|VAT1_ENST00000420567.3_In_Frame_Del_p.K244del	NM_006373.3	NP_006364.2	Q99536	VAT1_HUMAN	vesicle amine transport 1	378						cytoplasm|integral to membrane	oxidoreductase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	9		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.156)		CTTGCCCACATTCTTCTTCTCCT	0.557													-	41168126	TTC	-	41168124	7	5	400	1	0	1	0	1	0	0	0	0	17231	1493	52	0	49	0	VAT1	17	41168124	In_Frame_Del	DEL	TTC	TCGA-DU-7302-01A-11D-2086-08	30735788	41168124	40027086	41	40805											
RNF213	57674	broad.mit.edu	37	chr17	78345780	78345780	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgctcttcatcaactgcCtggaggtaagtgaactctct	10	12	8	11	0	4	1	2	1	2	0	5	2	4	2	1	2	4	2	1	2	3	2			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr17:78345780C>A	ENST00000582970.1	+	47	12675	c.12532C>A	c.(12532-12534)Ctg>Atg	p.L4178M	RNF213_ENST00000508628.2_Missense_Mutation_p.L4227M|RNF213_ENST00000336301.6_Missense_Mutation_p.L2251M|CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			CATCAACTGCCTGGAGGTAAG	0.308													A	78345780	C	A	78345780	3	1	400	1	0	0	0	0	1	0	0	0	13568	680	24	4	13033	4	RNF213	17	78345780	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	37177656	78345780	2849430	42	40806											
ALPK2	115701	broad.mit.edu	37	chr18	56171248	56171252	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-																															catttctgaccagcttctgaTtctcttctcaagaagtttat																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr18:56171248_56171252delTTCTC	ENST00000361673.3	-	11	6371_6375	c.6158_6162delGAGAA	c.(6157-6162)agagaafs	p.RE2053fs		NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	2053	Alpha-type protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCTTCTGATTCTCTTCTCAAGAA	0.473													-	56171252	TTCTC	-	56171248	7	5	400	1	0	1	0	1	0	0	0	0	545	1490	52	0	362	0	ALPK2	18	56171248	Frame_Shift_Del	DEL	TTCTC	TCGA-DU-7302-01A-11D-2086-08		56171248	21906000	43	40807											
PKN1	5585	broad.mit.edu	37	chr19	14574736	14574736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgccacgggcacaggcaCctttagccctggggcttctc	7	8	11	15	1	1	0	0	0	1	0	2	0	1	0	3	4	2	3	3	4	2	3			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:14574736C>T	ENST00000242783.6	+	11	1757	c.1592C>T	c.(1591-1593)aCc>aTc	p.T531I	PKN1_ENST00000342216.4_Missense_Mutation_p.T537I	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	531					activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GGCACAGGCACCTTTAGCCCT	0.667													T	14574736	C	T	14574736	3	4	400	1	0	0	0	0	1	0	0	0	12056	507	18	2	1677	2	PKN1	19	14574736	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08		14574736	44554247	44	40808											
BRD4	23476	broad.mit.edu	37	chr19	15349706	15349708	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgctgctgttgctcctggcGctgctgctgctgctgctcct																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:15349706_15349708delGCT	ENST00000263377.2	-	19	4087_4089	c.3866_3868delAGC	c.(3865-3870)cagcgc>cgc	p.Q1289del		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1289	Poly-Gln.				interspecies interaction between organisms|positive regulation of G2/M transition of mitotic cell cycle|positive regulation of transcription elongation from RNA polymerase II promoter|regulation of transcription involved in G1 phase of mitotic cell cycle	condensed nuclear chromosome|cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			tgctcctggcgctgctgctgctg	0.709			T	C15orf55	lethal midline carcinoma of young people								-	15349708	GCT	-	15349706	7	5	400	1	0	1	0	1	0	0	0	0	1513	1087	38	0	228	0	BRD4	19	15349706	In_Frame_Del	DEL	GCT	TCGA-DU-7302-01A-11D-2086-08	774970	15349706	43779277	45	40809											
RFXANK	8625	broad.mit.edu	37	chr19	19307810	19307810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaccactctcaccaacCggcagcgagggaacgaggtg	11	4	11	15	3	1	0	1	0	1	0	3	3	2	1	4	3	3	1	4	3	2	0			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:19307810C>T	ENST00000303088.4	+	4	700	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	RFXANK_ENST00000353145.1_Missense_Mutation_p.R75W|RFXANK_ENST00000407360.3_Missense_Mutation_p.R76W|RFXANK_ENST00000456252.3_Missense_Mutation_p.R76W|RFXANK_ENST00000392324.4_Missense_Mutation_p.R75W	NM_003721.2	NP_003712.1	O14593	RFXK_HUMAN	regulatory factor X-associated ankyrin-containing protein	76						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			NS(1)|breast(1)|endometrium(1)|lung(8)|ovary(2)|prostate(1)	14			Epithelial(12;0.00228)			TCTCACCAACCGGCAGCGAGG	0.617													T	19307810	C	T	19307810	3	4	400	1	0	0	0	0	1	0	0	0	13357	643	23	1	232	1	RFXANK	19	19307810	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	3958104	19307810	39821173	46	40810											
FFAR3	2865	broad.mit.edu	37	chr19	35850577	35850577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtggaggatctacgtgaCgcttctcagcaccctgaact	8	9	12	12	3	2	2	1	2	2	0	3	4	2	4	1	3	3	2	1	3	2	2	rs141433014		TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:35850577C>T	ENST00000327809.4	+	2	986	c.785C>T	c.(784-786)aCg>aTg	p.T262M	FFAR3_ENST00000594310.1_Missense_Mutation_p.T262M	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	262						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			ATCTACGTGACGCTTCTCAGC	0.567													T	35850577	C	T	35850577	3	4	400	1	0	0	0	0	1	0	0	0	5878	536	19	1	787	1	FFAR3	19	35850577	Missense_Mutation	SNP	C	TCGA-DU-7302-01A-11D-2086-08	16542767	35850577	23278406	47	40811											
CIC	23152	broad.mit.edu	37	chr19	42798099	42798100	+	Frame_Shift_Del	DEL	AG	AG	-																															ccctccagcagggtcctgtcAgaagtggacttcgaagagcg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr19:42798099_42798100delAG	ENST00000572681.2	+	18	6839_6840	c.6771_6772delAG	c.(6769-6774)tcagaafs	p.E2258fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.E1350fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.E1352fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGTCCTGTCAGAAGTGGACTT	0.678			"Mis, F, S"		oligodendroglioma								-	42798100	AG	-	42798099	7	5	400	1	0	1	0	1	0	0	0	0	3454	175	7	0	4119	0	CIC	19	42798099	Frame_Shift_Del	DEL	AG	TCGA-DU-7302-01A-11D-2086-08	6947522	42798099	16330884	48	40812											
NKX2-2	4821	broad.mit.edu	37	chr20	21492574	21492574	+	Frame_Shift_Del	DEL	T	T	-																															gcggcgctcaccaagtccacTgctgggcctggaccaggggg																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:21492574delT	ENST00000377142.4	-	2	1165	c.809delA	c.(808-810)cagfs	p.Q270fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	270					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCAAGTCCACTGCTGGGCCTG	0.706													-	21492574	T	-	21492574	7	5	400	1	0	1	0	1	0	0	0	0	10526	1580	55	0	16	0	NKX2-2	20	21492574	Frame_Shift_Del	DEL	T	TCGA-DU-7302-01A-11D-2086-08		21492574	41532946	49	40813											
RGS19	10287	broad.mit.edu	37	chr20	62705360	62705362	+	In_Frame_Del	DEL	TTG	TTG	-																															cggacggctcctgcatcttcTtgttgatgccctcccgcaca																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr20:62705360_62705362delTTG	ENST00000395042.1	-	6	764_766	c.498_500delCAA	c.(496-501)aacaag>aag	p.N166del	RGS19_ENST00000332298.5_In_Frame_Del_p.N166del	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	166	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CTGCATCTTCTTGTTGATGCCCT	0.64													-	62705362	TTG	-	62705360	7	5	400	1	0	1	0	1	0	0	0	0	13390	1609	56	0	157	0	RGS19	20	62705360	In_Frame_Del	DEL	TTG	TCGA-DU-7302-01A-11D-2086-08	41212786	62705360	320160	50	40814											
BAGE2	85319	broad.mit.edu	37	chr21	11085531	11085533	+	RNA	DEL	AAA	AAA	-																															ccaccaccaccaccaccactAaaaccacgaccaccaccacc																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chr21:11085531_11085533delAAA	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaaaaccacgacca	0.596													-	11085533	AAA	-	11085531	6	5	400	0	1	1	0	1	0	0	0	0	1297	377	13	0		0	BAGE2	21	11085531	RNA	DEL	AAA	TCGA-DU-7302-01A-11D-2086-08		11085531	37044364	51	40815											
CNKSR2	22866	broad.mit.edu	37	chrX	21627678	21627680	+	In_Frame_Del	DEL	GAG	GAG	-																															aacccccagaggtggaggaaGaggaggaggaggaggaggag																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:21627678_21627680delGAG	ENST00000425654.2	+	19	3025_3027	c.2545_2547delGAG	c.(2545-2547)gagdel	p.E856del	CNKSR2_ENST00000543067.1_In_Frame_Del_p.E837del|CNKSR2_ENST00000279451.4_In_Frame_Del_p.E886del|CNKSR2_ENST00000379510.3_In_Frame_Del_p.E886del	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	886					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						ggtggaggaagaggaggaggagg	0.517													-	21627680	GAG	-	21627678	7	5	400	1	0	1	0	1	0	0	0	0	3638	943	33	0	2713	0	CNKSR2	23	21627678	In_Frame_Del	DEL	GAG	TCGA-DU-7302-01A-11D-2086-08		21627678	133642882	52	40816											
KLHL15	80311	broad.mit.edu	37	chrX	24006740	24006740	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaataacacctacagcaaaTtcagagcgtggtacagacat	16	7	7	11	1	1	2	1	0	0	2	1	2	1	2	2	1	5	2	2	1	5	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:24006740T>C	ENST00000328046.8	-	4	1368	c.1113A>G	c.(1111-1113)gaA>gaG	p.E371E		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	371										autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						CTACAGCAAATTCAGAGCGTG	0.458													C	24006740	T	C	24006740	2	2	400	1	0	0	0	0	0	0	0	1	8429	1490	52	3		3	KLHL15	23	24006740	Silent	SNP	T	TCGA-DU-7302-01A-11D-2086-08	2379062	24006740	131263820	53	40817											
BCOR	54880	broad.mit.edu	37	chrX	39932365	39932366	+	Frame_Shift_Del	DEL	CT	CT	-																															tctcatgggaccgggatctcCtctctggtttctcctcttta																										TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:39932365_39932366delCT	ENST00000342274.4	-	4	2595_2596	c.2233_2234delAG	c.(2233-2235)aggfs	p.R746fs	BCOR_ENST00000378455.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000378444.4_Frame_Shift_Del_p.R746fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.R746fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	746					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCGGGATCTCCTCTCTGGTTTC	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39932366	CT	-	39932365	7	5	400	1	0	1	0	1	0	0	0	0	1391	681	24	0	3081	0	BCOR	23	39932365	Frame_Shift_Del	DEL	CT	TCGA-DU-7302-01A-11D-2086-08	15925625	39932365	115338195	54	40818											
SOX3	6658	broad.mit.edu	37	chrX	139586763	139586763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctccagggccattttgcGccgctgcccgcgggaccata	5	9	12	15	4	1	0	0	0	1	0	2	1	1	1	5	2	2	2	5	2	1	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:139586763G>A	ENST00000370536.2	-	1	462	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	155					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding	p.R155C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GCCATTTTGCGCCGCTGCCCG	0.632													A	139586763	G	A	139586763	3	1	400	1	0	0	0	0	1	0	0	0	15045	1087	38	1	881	1	SOX3	23	139586763	Missense_Mutation	SNP	G	TCGA-DU-7302-01A-11D-2086-08	99654398	139586763	15683797	55	40819											
FLNA	2316	broad.mit.edu	37	chrX	153593776	153593776	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctttgtgtacaccttgAagtcagctgtctccttcacc	6	13	7	15	1	3	1	2	1	1	0	4	1	3	1	4	0	2	2	4	0	2	4			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153593776A>T	ENST00000422373.1	-	10	1756	c.1508T>A	c.(1507-1509)tTc>tAc	p.F503Y	FLNA_ENST00000360319.4_Missense_Mutation_p.F503Y|FLNA_ENST00000369850.3_Missense_Mutation_p.F503Y|FLNA_ENST00000344736.4_Missense_Mutation_p.F503Y	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	503					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTACACCTTGAAGTCAGCTGT	0.672													T	153593776	A	T	153593776	3	4	400	1	0	0	0	0	1	0	0	0	5982	246	9	5	6591	5	FLNA	23	153593776	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	14007013	153593776	1676784	56	40820											
FAM50A	9130	broad.mit.edu	37	chrX	153678570	153678570	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccttagtcccatgcaggcaAggtggtgctgaggagctggt	7	9	15	10	0	0	1	0	1	0	0	1	2	1	2	2	5	3	4	2	5	2	1			TCGA-DU-7302-01A-11D-2086-08	TCGA-DU-7302-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cda7efe2-081f-427a-b863-c894647a16cf	9d8cc8bc-2c5a-42b2-9b91-8bbf43ca81bb	g.chrX:153678570A>C	ENST00000393600.3	+	12	1024	c.914A>C	c.(913-915)aAg>aCg	p.K305T		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	305					spermatogenesis	nucleus				breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CATGCAGGCAAGGTGGTGCTG	0.607													C	153678570	A	C	153678570	3	2	400	1	0	0	0	0	1	0	0	0	5628	72	3	5	960	5	FAM50A	23	153678570	Missense_Mutation	SNP	A	TCGA-DU-7302-01A-11D-2086-08	84794	153678570	1591990	57	40821											
UBR4	23352	broad.mit.edu	37	chr1	19510670	19510670	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggaagccagacctaagaaCtgaaaggaacacacacaaaa	20	4	8	9	0	0	3	0	1	0	2	0	5	0	5	2	2	3	0	2	2	7	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19510670C>T	ENST00000375267.2	-	16	1942		c.e16-1		UBR4_ENST00000375254.3_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375217.2_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		GACCTAAGAACTGAAAGGAAC	0.378													T	19510670	C	T	19510670	5	4	401	1	0	0	0	0	0	0	1	0	17006	579	20	2	13977	2	UBR4	1	19510670	Splice_Site	SNP	C	TCGA-DU-7304-01A-12D-2086-08		19510670	229739951	1	40822											
AKR7L	246181	broad.mit.edu	37	chr1	19595113	19595113	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagggcggccgaggtcaTgctgggagcgctggcgccat	5	5	19	12	5	1	0	1	0	0	0	1	3	1	2	3	6	2	2	3	6	0	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:19595113T>G	ENST00000420396.2	-	0	589				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						GCCGAGGTCATGCTGGGAGCG	0.632													G	19595113	T	G	19595113	1	3	401	0	1	0	0	0	0	0	0	0	477	1464	51	5		5	AKR7L	1	19595113	RNA	SNP	T	TCGA-DU-7304-01A-12D-2086-08	84443	19595113	229655508	2	40823											
ARID1A	8289	broad.mit.edu	37	chr1	27087503	27087503	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcacctgcctggcatcCgaggcccttccccgtcccct	3	8	7	23	2	1	0	1	0	0	0	4	1	4	0	10	2	1	1	10	2	0	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:27087503C>T	ENST00000324856.7	+	5	2448	c.2077C>T	c.(2077-2079)Cga>Tga	p.R693*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R693*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R310*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	693					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R693*(5)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCCTGGCATCCGAGGCCCTTC	0.602			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27087503	C	T	27087503	4	4	401	1	0	0	0	0	0	1	0	0	916	644	23	1	2095	1	ARID1A	1	27087503	Nonsense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	7492390	27087503	222163118	3	40824											
KCNQ4	9132	broad.mit.edu	37	chr1	41303400	41303400	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgggagaagggcgacaagggGccctccgacgcggaggtggt	8	3	20	10	5	0	1	0	0	0	1	1	5	1	2	2	7	0	0	2	7	2	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:41303400G>A	ENST00000347132.5	+	13	1891	c.1809G>A	c.(1807-1809)ggG>ggA	p.G603G	KCNQ4_ENST00000509682.2_Silent_p.G549G|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	603	A-domain (Tetramerization).				sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GCGACAAGGGGCCCTCCGACG	0.642													A	41303400	G	A	41303400	2	1	401	1	0	0	0	0	0	0	0	1	8143	1190	42	2		2	KCNQ4	1	41303400	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	14215897	41303400	207947221	4	40825											
PCSK9	255738	broad.mit.edu	37	chr1	55525160	55525160	+	Splice_Site	DEL	C	C	-																															ttccgtctttgactctaaggCccaagggggcaagctggtct																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:55525160delC	ENST00000302118.5	+	10	1795	c.1505delC	c.(1504-1506)gcc>gc	p.A502fs	PCSK9_ENST00000490692.1_Intron|PCSK9_ENST00000543384.1_3'UTR	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	502					cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						GACTCTAAGGCCCAAGGGGGC	0.557													-	55525160	C	-	55525160	8	5	401	1	0	1	0	1	0	0	1	0	11682	753	26	0	1543	0	PCSK9	1	55525160	Splice_Site	DEL	C	TCGA-DU-7304-01A-12D-2086-08	14221760	55525160	193725461	5	40826											
ZNF644	84146	broad.mit.edu	37	chr1	91405809	91405809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actctcttctccacacttatCtgggttataaattagatgtt	10	17	5	9	0	3	1	0	0	3	1	5	1	3	1	1	1	0	2	1	1	5	6			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:91405809C>T	ENST00000370440.1	-	3	1319	c.1102G>A	c.(1102-1104)Gat>Aat	p.D368N	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000467231.1_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.D368N|ZNF644_ENST00000347275.5_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	368					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		CCACACTTATCTGGGTTATAA	0.368													T	91405809	C	T	91405809	3	4	401	1	0	0	0	0	1	0	0	0	18161	913	32	2	2897	2	ZNF644	1	91405809	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	35880649	91405809	157844812	6	40827											
ADAM30	11085	broad.mit.edu	37	chr1	120437550	120437550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggaacttgaattcccgtcGcagtactctgcaaggtcaca	11	9	9	12	2	2	1	1	1	1	0	4	2	3	2	1	2	3	3	1	2	4	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr1:120437550G>A	ENST00000369400.1	-	1	1568	c.1410C>T	c.(1408-1410)tgC>tgT	p.C470C		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	470	Disintegrin.				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AATTCCCGTCGCAGTACTCTG	0.483													A	120437550	G	A	120437550	2	1	401	1	0	0	0	0	0	0	0	1	248	1079	38	1		1	ADAM30	1	120437550	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	29031741	120437550	128813071	7	40828											
DAPL1	92196	broad.mit.edu	37	chr2	159660849	159660849	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaattggcaccttggaaagAcataccaaaaaaacaggatt	19	7	8	7	0	0	1	0	0	0	1	0	4	0	3	2	3	2	1	2	3	6	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:159660849A>G	ENST00000309950.3	+	2	170	c.114A>G	c.(112-114)agA>agG	p.R38R	DAPL1_ENST00000409042.1_Silent_p.R38R	NM_001017920.2	NP_001017920.2	A0PJW8	DAPL1_HUMAN	death associated protein-like 1	38					apoptosis|cell differentiation					prostate(1)	1						CCTTGGAAAGACATACCAAAA	0.378													G	159660849	A	G	159660849	2	3	401	1	0	0	0	0	0	0	0	1	4272	272	10	3		3	DAPL1	2	159660849	Silent	SNP	A	TCGA-DU-7304-01A-12D-2086-08		159660849	83538524	8	40829											
TTN	7273	broad.mit.edu	37	chr2	179592377	179592377	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaacatggcaagtatacTgtccagtcttagaagcatcc	12	11	9	9	0	1	1	0	0	1	1	3	1	3	1	2	2	3	4	2	2	6	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:179592377T>C	ENST00000589042.1	-	68	20152	c.19928A>G	c.(19927-19929)cAg>cGg	p.Q6643R	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6326R|TTN_ENST00000342992.6_Missense_Mutation_p.Q5399R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6326	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCAAGTATACTGTCCAGTCTT	0.418													C	179592377	T	C	179592377	3	2	401	1	0	0	0	0	1	0	0	0	16837	1580	55	3	84781	3	TTN	2	179592377	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08	19931528	179592377	63606996	9	40830											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	401	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	29520736	209113113	34086260	10	40831											
SP140	11262	broad.mit.edu	37	chr2	231108509	231108509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggaagccttgagctcctCgccaaggtgtgagccaggta	9	8	13	11	1	1	2	1	2	0	0	3	3	2	3	4	3	3	2	4	3	3	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr2:231108509C>T	ENST00000392045.3	+	5	668	c.554C>T	c.(553-555)tCg>tTg	p.S185L	SP140_ENST00000417495.3_Missense_Mutation_p.S185L|SP140_ENST00000486687.2_Missense_Mutation_p.S185L|SP140_ENST00000420434.3_Missense_Mutation_p.S185L|SP140_ENST00000350136.5_Missense_Mutation_p.S165L|SP140_ENST00000343805.6_Missense_Mutation_p.S185L	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	185					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		TTGAGCTCCTCGCCAAGGTGT	0.488													T	231108509	C	T	231108509	3	4	401	1	0	0	0	0	1	0	0	0	15056	893	31	1	689	1	SP140	2	231108509	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	21995396	231108509	12090864	11	40832											
CAND2	23066	broad.mit.edu	37	chr3	12858002	12858002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgcctatcctcctgcCacctgtgatggcctgtgtgg	5	12	10	14	0	0	1	0	1	0	0	2	1	2	1	6	2	2	0	6	2	1	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:12858002C>T	ENST00000456430.2	+	10	1612	c.1571C>T	c.(1570-1572)cCa>cTa	p.P524L	CAND2_ENST00000295989.5_Missense_Mutation_p.P431L	NM_001162499.1	NP_001155971.1	O75155	CAND2_HUMAN	cullin-associated and neddylation-dissociated 2 (putative)	524					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(8)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ATCCTCCTGCCACCTGTGATG	0.642													T	12858002	C	T	12858002	3	4	401	1	0	0	0	0	1	0	0	0	2642	594	21	2	1609	2	CAND2	3	12858002	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		12858002	185164428	12	40833											
ITIH1	3697	broad.mit.edu	37	chr3	52819072	52819072	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcagggtttctacagcCaggtagccaaacccctgctg	8	8	10	15	0	1	0	0	0	1	0	1	0	1	0	5	2	6	4	5	2	3	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:52819072C>G	ENST00000273283.2	+	12	1444	c.1420C>G	c.(1420-1422)Cag>Gag	p.Q474E	ITIH1_ENST00000537050.1_Missense_Mutation_p.Q186E|ITIH1_ENST00000542827.1_Missense_Mutation_p.Q474E|ITIH1_ENST00000540715.1_Missense_Mutation_p.Q332E	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	474	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TTTCTACAGCCAGGTAGCCAA	0.557													G	52819072	C	G	52819072	3	3	401	1	0	0	0	0	1	0	0	0	7961	595	21	4	1466	4	ITIH1	3	52819072	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	39961070	52819072	145203358	13	40834											
ACPP	55	broad.mit.edu	37	chr3	132051045	132051045	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctactctaggtttatattCgaagcacagacgttgaccgg	10	12	9	10	3	1	2	0	1	1	1	3	3	2	2	2	2	2	3	2	2	5	7			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:132051045C>T	ENST00000336375.5	+	4	403	c.313C>T	c.(313-315)Cga>Tga	p.R105*	ACPP_ENST00000489084.1_3'UTR|ACPP_ENST00000475741.1_Nonsense_Mutation_p.R105*|ACPP_ENST00000351273.7_Nonsense_Mutation_p.R105*	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	105						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity	p.R105*(1)		NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						GGTTTATATTCGAAGCACAGA	0.458													T	132051045	C	T	132051045	4	4	401	1	0	0	0	0	0	1	0	0	167	876	31	1	327	1	ACPP	3	132051045	Nonsense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	79231973	132051045	65971385	14	40835											
C3orf58	205428	broad.mit.edu	37	chr3	143708579	143708579	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaaagatggccggctcgagGccttgctggatgagtgtgcc	7	8	15	11	2	0	2	0	1	0	1	1	4	0	3	4	4	2	2	4	4	1	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:143708579G>C	ENST00000315691.3	+	3	1724	c.1189G>C	c.(1189-1191)Gcc>Ccc	p.A397P	C3orf58_ENST00000493396.1_Intron|C3orf58_ENST00000495414.1_Missense_Mutation_p.A188P|C3orf58_ENST00000441925.2_Missense_Mutation_p.A159P	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	397						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCGGCTCGAGGCCTTGCTGGA	0.507													C	143708579	G	C	143708579	3	2	401	1	0	0	0	0	1	0	0	0	2257	1203	42	4	1233	4	C3orf58	3	143708579	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	11657534	143708579	54313851	15	40836											
LRRC31	79782	broad.mit.edu	37	chr3	169572755	169572755	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcctcagctcacccaaataCctaaaagcagcatctacaaa	16	8	3	14	0	3	0	2	0	1	0	4	0	4	0	3	0	5	3	3	0	6	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:169572755C>T	ENST00000316428.5	-	6	894	c.837G>A	c.(835-837)agG>agA	p.R279R	LRRC31_ENST00000397805.2_5'UTR|LRRC31_ENST00000264676.5_Silent_p.R223R|LRRC31_ENST00000523069.1_Silent_p.R279R	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	279										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			CACCCAAATACCTAAAAGCAG	0.478													T	169572755	C	T	169572755	2	4	401	1	0	0	0	0	0	0	0	1	9056	506	18	2		2	LRRC31	3	169572755	Silent	SNP	C	TCGA-DU-7304-01A-12D-2086-08	25864176	169572755	28449675	16	40837											
MCCC1	56922	broad.mit.edu	37	chr3	182810270	182810270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacacccagttttttggctGtgcgcatcaccctgcaggca	7	11	10	13	1	1	0	1	0	0	0	1	0	1	0	2	2	3	6	2	2	1	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr3:182810270G>A	ENST00000265594.4	-	3	346	c.200C>T	c.(199-201)aCa>aTa	p.T67I	MCCC1_ENST00000492597.1_Intron|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	67	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TTTTTTGGCTGTGCGCATCAC	0.418													A	182810270	G	A	182810270	3	1	401	1	0	0	0	0	1	0	0	0	9449	1377	48	2	2045	2	MCCC1	3	182810270	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	13237515	182810270	15212160	17	40838											
AFP	174	broad.mit.edu	37	chr4	74301968	74301968	+	Translation_Start_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caccactgccaataacaaaaTaactagcaaccatgaagtgg	18	6	6	11	0	0	1	0	1	0	0	0	1	0	1	3	1	5	1	3	1	8	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr4:74301968T>G	ENST00000395792.2	+	0	89				AFP_ENST00000226359.2_De_novo_Start_OutOfFrame	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein						transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATAACAAAATAACTAGCAAC	0.333									Alpha-Fetoprotein, Hereditary Persistence of				G	74301968	T	G	74301968	1	3	401	1	0	0	0	0	0	0	0	0	363	1421	49	5		5	AFP	4	74301968	Translation_Start_Site	SNP	T	TCGA-DU-7304-01A-12D-2086-08		74301968	116852308	18	40839											
SLC12A7	10723	broad.mit.edu	37	chr5	1089127	1089127	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatggccacgatgaggaaGgactccaggacaccagccac	13	3	11	14	1	0	1	0	1	0	0	1	5	1	4	4	4	1	0	4	4	1	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:1089127G>A	ENST00000264930.5	-	4	502	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	153					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)	CGATGAGGAAGGACTCCAGGA	0.647													A	1089127	G	A	1089127	2	1	401	1	0	0	0	0	0	0	0	1	14482	987	35	2		2	SLC12A7	5	1089127	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		1089127	179826133	19	40840											
MAP3K1	4214	broad.mit.edu	37	chr5	56181765	56181765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctattgtcttatagggggatCggtggctcatttgctgagta	7	15	13	6	1	2	1	1	1	1	0	3	2	2	2	0	4	1	3	0	4	4	6			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr5:56181765C>T	ENST00000399503.3	+	17	3989	c.3989C>T	c.(3988-3990)tCg>tTg	p.S1330L		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1330	Protein kinase.				cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		ATAGGGGGATCGGTGGCTCAT	0.343													T	56181765	C	T	56181765	3	4	401	1	0	0	0	0	1	0	0	0	9318	893	31	1	4055	1	MAP3K1	5	56181765	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	55092638	56181765	124733495	20	40841											
KIF6	221458	broad.mit.edu	37	chr6	39353431	39353431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtatatgccgctgggtgaTttcttccttcaggtgacctg	5	15	11	10	1	2	2	1	2	1	0	3	2	3	2	3	2	1	2	3	2	2	5			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:39353431T>C	ENST00000287152.7	-	16	1922	c.1828A>G	c.(1828-1830)Atc>Gtc	p.I610V	KIF6_ENST00000373213.4_Missense_Mutation_p.I449V|KIF6_ENST00000394362.1_Missense_Mutation_p.I61V|KIF6_ENST00000538893.1_Missense_Mutation_p.I554V|KIF6_ENST00000373215.3_Intron|KIF6_ENST00000541946.1_Missense_Mutation_p.I61V|KIF6_ENST00000373216.3_Missense_Mutation_p.I610V|KIF6_ENST00000229913.5_Missense_Mutation_p.I61V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	610					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CGCTGGGTGATTTCTTCCTTC	0.463													C	39353431	T	C	39353431	3	2	401	1	0	0	0	0	1	0	0	0	8366	1493	52	3	648	3	KIF6	6	39353431	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08		39353431	131761636	21	40842											
ATG5	9474	broad.mit.edu	37	chr6	106727551	106727551	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaccattttgcaatcccaTccagagttgcttgtgatctt	8	16	6	11	0	1	2	0	1	1	1	3	2	3	2	3	0	3	3	3	0	2	6			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:106727551T>C	ENST00000369076.3	-	5	786	c.463A>G	c.(463-465)Atg>Gtg	p.M155V	ATG5_ENST00000360666.4_Intron|ATG5_ENST00000369070.1_Missense_Mutation_p.M77V|ATG5_ENST00000343245.3_Missense_Mutation_p.M155V	NM_004849.2	NP_004840.1	Q9H1Y0	ATG5_HUMAN	autophagy related 5	155					apoptosis|autophagic vacuole assembly|negative regulation of type I interferon production|post-translational protein modification	autophagic vacuole|pre-autophagosomal structure membrane	protein binding			endometrium(1)|large_intestine(5)|lung(1)|prostate(1)	8	Breast(9;0.0296)	all_cancers(87;0.000301)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|all_epithelial(87;0.0612)|Lung NSC(302;0.216)	BRCA - Breast invasive adenocarcinoma(8;0.00802)	OV - Ovarian serous cystadenocarcinoma(136;0.128)|Epithelial(106;0.159)|all cancers(137;0.18)		TGCAATCCCATCCAGAGTTGC	0.303													C	106727551	T	C	106727551	3	2	401	1	0	0	0	0	1	0	0	0	1105	1435	50	3	380	3	ATG5	6	106727551	Missense_Mutation	SNP	T	TCGA-DU-7304-01A-12D-2086-08	67374120	106727551	64387516	22	40843											
MARCKS	4082	broad.mit.edu	37	chr6	114181209	114181210	+	Frame_Shift_Ins	INS	-	-	A																															cgcccagcaacgagaccccgINSaaaaaaaaaaagaagcgctt																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr6:114181209_114181210insA	ENST00000368635.4	+	2	834_835	c.453_454insA	c.(454-456)aaafs	p.K152fs		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	152	Calmodulin-binding (PSD).				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	p.K155fs*12(1)		breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		ACGAGACCCCGAAAAAAAAAAA	0.614													A	114181210	-	A	114181209	7	5	401	1	0	1	1	0	0	0	0	0	9384	1045	37	0	459	0	MARCKS	6	114181209	Frame_Shift_Ins	INS	-	TCGA-DU-7304-01A-12D-2086-08	7453658	114181209	56933858	23	40844											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501730	134501730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gactctggcaacgggctaagGttccaggccgtctgctgagg	7	8	15	11	2	2	1	0	1	2	0	3	2	3	1	2	5	2	4	2	5	2	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501730G>A	ENST00000372195.1	-	10	1524	c.1281C>T	c.(1279-1281)aaC>aaT	p.N427N	RAPGEF1_ENST00000372189.3_Silent_p.N410N|RAPGEF1_ENST00000372190.3_Silent_p.N428N|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	410					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		ACGGGCTAAGGTTCCAGGCCG	0.567													A	134501730	G	A	134501730	2	1	401	1	0	0	0	0	0	0	0	1	13131	1252	44	2		2	RAPGEF1	9	134501730	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		134501730	6711701	24	40845											
RAPGEF1	2889	broad.mit.edu	37	chr9	134501807	134501807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagtcgggatcatagtGgtctgcagttacaacagggg	10	11	13	7	1	3	0	2	0	1	0	4	1	3	1	0	4	3	2	0	4	4	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr9:134501807G>A	ENST00000372195.1	-	10	1447	c.1204C>T	c.(1204-1206)Cac>Tac	p.H402Y	RAPGEF1_ENST00000372189.3_Missense_Mutation_p.H385Y|RAPGEF1_ENST00000372190.3_Missense_Mutation_p.H403Y|RAPGEF1_ENST00000481260.1_5'UTR			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	385					activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		GGATCATAGTGGTCTGCAGTT	0.592													A	134501807	G	A	134501807	3	1	401	1	0	0	0	0	1	0	0	0	13131	1348	47	2	2140	2	RAPGEF1	9	134501807	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	77	134501807	6711624	25	40846											
OIT3	170392	broad.mit.edu	37	chr10	74673065	74673065	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggccctttttctctgcaGtccctgtgttgtgcaaatca	6	15	9	11	0	2	0	1	0	1	0	4	0	3	0	2	1	2	3	2	1	1	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr10:74673065G>C	ENST00000334011.5	+	6	1008		c.e6-1			NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3							nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					TTTCTCTGCAGTCCCTGTGTT	0.502													C	74673065	G	C	74673065	5	2	401	1	0	0	0	0	0	0	1	0	10925	1043	36	4	812	4	OIT3	10	74673065	Splice_Site	SNP	G	TCGA-DU-7304-01A-12D-2086-08		74673065	60861682	26	40847											
NELL1	4745	broad.mit.edu	37	chr11	20950023	20950023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagtgctgtaaggtctgccGacgtaagtactgactgaggg	9	9	14	9	2	1	2	0	2	1	0	1	3	1	2	2	2	3	4	2	2	3	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:20950023G>A	ENST00000298925.5	+	10	1232	c.1079G>A	c.(1078-1080)cGa>cAa	p.R360Q	NELL1_ENST00000325319.5_Missense_Mutation_p.R275Q|NELL1_ENST00000532434.1_Missense_Mutation_p.R332Q|NELL1_ENST00000357134.5_Missense_Mutation_p.R332Q			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	332	VWFC 2.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity	p.R332Q(1)		NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						AAGGTCTGCCGACGTAAGTAC	0.488													A	20950023	G	A	20950023	3	1	401	1	0	0	0	0	1	0	0	0	10409	1058	37	1	1029	1	NELL1	11	20950023	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		20950023	114056493	27	40848											
KRTAP5-10	387273	broad.mit.edu	37	chr11	71276879	71276879	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttgtgggggctccaaaggGggctgtggttcctgtggggg	3	11	20	7	0	1	0	0	0	1	0	3	0	3	0	2	7	0	3	2	7	1	2	rs36179995		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr11:71276879G>T	ENST00000398531.1	+	1	271	c.246G>T	c.(244-246)ggG>ggT	p.G82G	KRTAP5-10_ENST00000376536.4_Intron	NM_001012710.1	NP_001012728.1	Q6L8G5	KR510_HUMAN	keratin associated protein 5-10	82	7 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(2)|large_intestine(1)|lung(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	12						GCTCCAAAGGGGGCTGTGGTT	0.682													T	71276879	G	T	71276879	2	4	401	1	0	0	0	0	0	0	0	1	8618	1219	43	4		4	KRTAP5-10	11	71276879	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	50326856	71276879	63729637	28	40849											
FGF23	8074	broad.mit.edu	37	chr12	4479524	4479524	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaccctagatgaacttggcGaaggggcggcagccttccgg	8	6	15	12	4	0	2	0	1	0	1	1	4	1	2	3	5	2	1	3	5	3	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:4479524G>A	ENST00000237837.1	-	3	886	c.741C>T	c.(739-741)ttC>ttT	p.F247F		NM_020638.2	NP_065689.1	Q9GZV9	FGF23_HUMAN	fibroblast growth factor 23	247					cell differentiation|insulin receptor signaling pathway|negative regulation of bone mineralization|negative regulation of hormone secretion|negative regulation of osteoblast differentiation|positive regulation of vitamin D 24-hydroxylase activity|regulation of phosphate transport|vitamin D catabolic process	extracellular space	growth factor activity	p.F247F(1)		NS(1)|breast(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	22			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)|STAD - Stomach adenocarcinoma(119;0.206)			TGAACTTGGCGAAGGGGCGGC	0.627													A	4479524	G	A	4479524	2	1	401	1	0	0	0	0	0	0	0	1	5901	1049	37	1		1	FGF23	12	4479524	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08		4479524	129372371	29	40850											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													C	7080213	-	C	7080212	8	5	401	1	0	1	1	0	0	0	1	0	5131	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-DU-7304-01A-12D-2086-08	2600688	7080212	126771683	30	40851											
SLCO1A2	6579	broad.mit.edu	37	chr12	21422506	21422506	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttagttttcaattcatcAtctttcaaaaccgtggactt	12	17	4	8	1	5	0	4	0	1	0	5	1	5	1	1	1	1	1	1	1	5	7			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:21422506A>G	ENST00000307378.6	-	16	2709	c.1989T>C	c.(1987-1989)gaT>gaC	p.D663D	SLCO1A2_ENST00000537524.1_Silent_p.D531D|SLCO1A2_ENST00000452078.1_Silent_p.D663D|SLCO1A2_ENST00000458504.1_Silent_p.D531D	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	663					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TCAATTCATCATCTTTCAAAA	0.308													G	21422506	A	G	21422506	2	3	401	1	0	0	0	0	0	0	0	1	14816	214	8	3		3	SLCO1A2	12	21422506	Silent	SNP	A	TCGA-DU-7304-01A-12D-2086-08	14342294	21422506	112429389	31	40852											
NR4A1	3164	broad.mit.edu	37	chr12	52451162	52451164	+	In_Frame_Del	DEL	TCT	TCT	-																															gccaggcgagggcaagctcaTcttctgctcaggcctggtgc																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:52451162_52451164delTCT	ENST00000545748.1	+	7	2545_2547	c.1550_1552delTCT	c.(1549-1554)atcttc>atc	p.F518del	NR4A1_ENST00000243050.1_In_Frame_Del_p.F464del|NR4A1_ENST00000550082.1_In_Frame_Del_p.F477del|NR4A1_ENST00000394824.2_In_Frame_Del_p.F464del|NR4A1_ENST00000360284.3_In_Frame_Del_p.F477del|NR4A1_ENST00000394825.1_In_Frame_Del_p.F464del			P22736	NR4A1_HUMAN	nuclear receptor subfamily 4, group A, member 1	464					nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)	16				BRCA - Breast invasive adenocarcinoma(357;0.0967)		GGCAAGCTCATCTTCTGCTCAGG	0.611													-	52451164	TCT	-	52451162	7	5	401	1	0	1	0	1	0	0	0	0	10708	1435	50	0	1406	0	NR4A1	12	52451162	In_Frame_Del	DEL	TCT	TCGA-DU-7304-01A-12D-2086-08	31028656	52451162	81400733	32	40853											
ACACB	32	broad.mit.edu	37	chr12	109647094	109647094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgtggagaagtctgtccGcagggtgatggcccagtatg	7	9	15	10	1	1	2	0	1	1	1	2	3	2	2	3	3	0	2	3	3	2	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr12:109647094G>A	ENST00000338432.7	+	21	3304	c.3185G>A	c.(3184-3186)cGc>cAc	p.R1062H	ACACB_ENST00000377854.5_Missense_Mutation_p.R1062H|ACACB_ENST00000377848.3_Missense_Mutation_p.R1062H			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1062					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AAGTCTGTCCGCAGGGTGATG	0.667													A	109647094	G	A	109647094	3	1	401	1	0	0	0	0	1	0	0	0	107	1087	38	1	3263	1	ACACB	12	109647094	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	57195932	109647094	24204801	33	40854											
FAM124A	220108	broad.mit.edu	37	chr13	51825705	51825705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaggccatcgacaacGtcctggcgtggatccacccc	8	6	12	15	3	0	0	0	0	0	0	3	3	2	2	5	4	2	1	5	4	1	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr13:51825705G>A	ENST00000322475.8	+	3	337	c.202G>A	c.(202-204)Gtc>Atc	p.V68I	FAM124A_ENST00000280057.6_Missense_Mutation_p.V104I	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	68										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CATCGACAACGTCCTGGCGTG	0.682													A	51825705	G	A	51825705	3	1	401	1	0	0	0	0	1	0	0	0	5470	1145	40	1	324	1	FAM124A	13	51825705	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		51825705	63344173	34	40855											
TPPP2	122664	broad.mit.edu	37	chr14	21498757	21498757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccatggcatcagaggcagAaaaaacattccatcggtttg	14	8	10	9	1	1	2	1	0	0	2	3	3	2	2	2	3	1	3	2	3	3	2			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:21498757A>C	ENST00000321760.6	+	2	165	c.17A>C	c.(16-18)gAa>gCa	p.E6A	TPPP2_ENST00000530140.2_Missense_Mutation_p.E6A|TPPP2_ENST00000460647.2_Missense_Mutation_p.E6A|NDRG2_ENST00000403829.3_Intron	NM_173846.4	NP_776245.2	P59282	TPPP2_HUMAN	tubulin polymerization-promoting protein family member 2	6						cytoplasm				endometrium(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TCAGAGGCAGAAAAAACATTC	0.522													C	21498757	A	C	21498757	3	2	401	1	0	0	0	0	1	0	0	0	16515	246	9	5	19	5	TPPP2	14	21498757	Missense_Mutation	SNP	A	TCGA-DU-7304-01A-12D-2086-08		21498757	85850783	35	40856											
PLEKHG3	26030	broad.mit.edu	37	chr14	65198857	65198857	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactggactcaccacatcaaGaggctcatcctagagaacca	15	6	7	13	0	3	2	3	0	0	2	4	4	4	3	3	2	2	1	3	2	4	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:65198857G>C	ENST00000247226.7	+	8	1310	c.1002G>C	c.(1000-1002)aaG>aaC	p.K334N	PLEKHG3_ENST00000394691.1_Missense_Mutation_p.K390N	NM_015549.1	NP_056364.1	A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	390	PH.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		ACCACATCAAGAGGCTCATCC	0.557													C	65198857	G	C	65198857	3	2	401	1	0	0	0	0	1	0	0	0	12147	933	33	4	1028	4	PLEKHG3	14	65198857	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08	43700100	65198857	42150683	36	40857											
ATP6V1D	51382	broad.mit.edu	37	chr14	67807223	67807223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagagtacgttcaatcCggggaatgatgactagaata	16	8	11	6	2	1	4	1	2	0	2	2	5	2	5	1	2	2	3	1	2	8	4	rs144396308	byFrequency	TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:67807223C>T	ENST00000216442.7	-	8	1086	c.536G>A	c.(535-537)cGg>cAg	p.R179Q	ATP6V1D_ENST00000554236.1_Missense_Mutation_p.G157R|ATP6V1D_ENST00000555431.1_Missense_Mutation_p.R124Q|ATP6V1D_ENST00000555474.1_Missense_Mutation_p.R80Q	NM_015994.3	NP_057078.1	Q9Y5K8	VATD_HUMAN	ATPase, H+ transporting, lysosomal 34kDa, V1 subunit D	179					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|proton-transporting two-sector ATPase complex, catalytic domain|vacuolar proton-transporting V-type ATPase complex	protein binding|proton-transporting ATPase activity, rotational mechanism	p.R179Q(1)		lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	7				all cancers(60;0.000739)|OV - Ovarian serous cystadenocarcinoma(108;0.00597)|BRCA - Breast invasive adenocarcinoma(234;0.00957)		ACGTTCAATCCGGGGAATGAT	0.328													T	67807223	C	T	67807223	3	4	401	1	0	0	0	0	1	0	0	0	1187	652	23	1	215	1	ATP6V1D	14	67807223	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	2608366	67807223	39542317	37	40858											
RIN3	79890	broad.mit.edu	37	chr14	93043731	93043731	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcgccgggacagcagCtcgaagcagctggtgctctg	6	8	15	12	3	1	0	0	0	1	0	3	2	1	1	1	3	5	6	1	3	1	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr14:93043731C>T	ENST00000216487.7	+	3	435	c.276C>T	c.(274-276)agC>agT	p.S92S	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	92	SH2.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				GGGACAGCAGCTCGAAGCAGC	0.512													T	93043731	C	T	93043731	2	4	401	1	0	0	0	0	0	0	0	1	13464	796	28	2		2	RIN3	14	93043731	Silent	SNP	C	TCGA-DU-7304-01A-12D-2086-08	25236508	93043731	14305809	38	40859											
SPTBN5	51332	broad.mit.edu	37	chr15	42169508	42169508	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcttgggagtctgggcAgtccaaggctgccatgggct	6	9	14	12	0	2	0	0	0	2	0	3	1	3	1	3	4	1	3	3	4	1	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:42169508A>G	ENST00000320955.6	-	18	3744	c.3517T>C	c.(3517-3519)Tgc>Cgc	p.C1173R		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1173					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GAGTCTGGGCAGTCCAAGGCT	0.632													G	42169508	A	G	42169508	3	3	401	1	0	0	0	0	1	0	0	0	15218	188	7	3	7711	3	SPTBN5	15	42169508	Missense_Mutation	SNP	A	TCGA-DU-7304-01A-12D-2086-08		42169508	60361884	39	40860											
LRRK1	79705	broad.mit.edu	37	chr15	101565120	101565120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtggtctggaacctggCgctgggggaggaggccgtgg	4	7	22	8	3	1	0	0	0	1	0	1	3	1	3	2	9	1	1	2	9	1	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr15:101565120C>T	ENST00000284395.5	+	17	2571	c.2171C>T	c.(2170-2172)gCg>gTg	p.A724V	LRRK1_ENST00000388948.3_Missense_Mutation_p.A727V			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	727	Roc.				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			TGGAACCTGGCGCTGGGGGAG	0.622													T	101565120	C	T	101565120	3	4	401	1	0	0	0	0	1	0	0	0	9102	768	27	1	2238	1	LRRK1	15	101565120	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	59395612	101565120	966272	40	40861											
HAS3	3038	broad.mit.edu	37	chr16	69148261	69148261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcagatcctcaacaagtacGactcatggatttccttcctg	10	12	7	12	1	2	1	2	0	0	1	5	3	5	2	3	1	3	2	3	1	3	3			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr16:69148261G>A	ENST00000306560.1	+	4	910	c.754G>A	c.(754-756)Gac>Aac	p.D252N	HAS3_ENST00000569188.1_Missense_Mutation_p.D252N|HAS3_ENST00000219322.3_Intron	NM_005329.2	NP_005320.2	O00219	HAS3_HUMAN	hyaluronan synthase 3	252					carbohydrate metabolic process	integral to plasma membrane	hyaluronan synthase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|urinary_tract(2)	16		Ovarian(137;0.101)		OV - Ovarian serous cystadenocarcinoma(108;0.0694)		CAACAAGTACGACTCATGGAT	0.557													A	69148261	G	A	69148261	3	1	401	1	0	0	0	0	1	0	0	0	7018	1058	37	1	764	1	HAS3	16	69148261	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		69148261	21206492	41	40862											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	401	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		7577121	73618089	42	40863											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	DEL	C	C	-																															cagcccctcagggcaactgaCcgtgcaagtcacagacttgg																								rs68140816		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:7579311delC	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			-	7579311	C	-	7579311	8	5	401	1	0	1	0	1	0	0	1	0	16482	521	18	0	926	0	TP53	17	7579311	Splice_Site	DEL	C	TCGA-DU-7304-01A-12D-2086-08	2190	7579311	73615899	43	40864											
FLCN	201163	broad.mit.edu	37	chr17	17117161	17117161	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgaacttaaaaagcacCttcactttgctgaagaaaac	15	11	7	8	0	1	3	1	2	0	1	1	3	1	3	1	1	4	2	1	1	7	4			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr17:17117161C>A	ENST00000285071.4	-	14	2002	c.1548G>T	c.(1546-1548)aaG>aaT	p.K516N	RP11-45M22.4_ENST00000427497.3_Intron	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	516					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						TAAAAAGCACCTTCACTTTGC	0.542									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				A	17117161	C	A	17117161	3	1	401	1	0	0	0	0	1	0	0	0	5970	680	24	4	195	4	FLCN	17	17117161	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	9537850	17117161	64078049	44	40865											
PNPLA6	10908	broad.mit.edu	37	chr19	7606923	7606923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggcccctctgctgagcCgctgcgtctccatgccaggg	3	8	12	18	3	2	1	0	1	2	0	4	1	2	1	6	2	4	2	6	2	0	0			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:7606923C>T	ENST00000221249.6	+	13	1536	c.1105C>T	c.(1105-1107)Cgc>Tgc	p.R369C	PNPLA6_ENST00000545201.2_Missense_Mutation_p.R369C|PNPLA6_ENST00000450331.3_Missense_Mutation_p.R369C|PNPLA6_ENST00000414982.3_Missense_Mutation_p.R417C|PNPLA6_ENST00000600737.1_Missense_Mutation_p.R408C	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	408					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TCTGCTGAGCCGCTGCGTCTC	0.642													T	7606923	C	T	7606923	3	4	401	1	0	0	0	0	1	0	0	0	12246	652	23	1	1291	1	PNPLA6	19	7606923	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08		7606923	51522060	45	40866											
CPAMD8	27151	broad.mit.edu	37	chr19	17122404	17122404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatgctggccactcacctCggtgctggggtctgtacaca	6	10	11	14	1	2	0	1	0	1	0	4	0	3	0	3	4	3	3	3	4	1	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr19:17122404C>T	ENST00000443236.1	-	4	603	c.572G>A	c.(571-573)cGa>cAa	p.R191Q	CTD-2528A14.1_ENST00000595134.1_RNA|CPAMD8_ENST00000388925.4_Missense_Mutation_p.R144Q	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	144						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCACTCACCTCGGTGCTGGGG	0.602													T	17122404	C	T	17122404	3	4	401	1	0	0	0	0	1	0	0	0	3826	884	31	1	5382	1	CPAMD8	19	17122404	Missense_Mutation	SNP	C	TCGA-DU-7304-01A-12D-2086-08	9515481	17122404	42006579	46	40867											
CBY1	25776	broad.mit.edu	37	chr22	39067165	39067165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagaacaatctcttgcGgctgaaagtggacatcttat	13	10	11	7	1	2	2	0	1	2	1	3	5	2	4	0	3	2	1	0	3	5	2	rs140554782		TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chr22:39067165G>A	ENST00000216029.3	+	4	409	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	RP3-508I15.9_ENST00000444381.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	92	Minimal region for the interaction with PKD2.				cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AATCTCTTGCGGCTGAAAGTG	0.562													A	39067165	G	A	39067165	3	1	401	1	0	0	0	0	1	0	0	0	2751	1116	39	1	285	1	CBY1	22	39067165	Missense_Mutation	SNP	G	TCGA-DU-7304-01A-12D-2086-08		39067165	12237401	47	40868											
ATRX	546	broad.mit.edu	37	chrX	76889091	76889091	+	Frame_Shift_Del	DEL	T	T	-																															cttttaatccctcttgccacTtctcaaattcattcatccaa																										TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:76889091delT	ENST00000373344.5	-	18	5133	c.4919delA	c.(4918-4920)aagfs	p.K1640fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1602fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1640	Helicase ATP-binding.				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)	CTCTTGCCACTTCTCAAATTC	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76889091	T	-	76889091	7	5	401	1	0	1	0	1	0	0	0	0	1213	1609	56	0	2631	0	ATRX	23	76889091	Frame_Shift_Del	DEL	T	TCGA-DU-7304-01A-12D-2086-08		76889091	78381469	48	40869											
MECP2	4204	broad.mit.edu	37	chrX	153297774	153297774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggtccccggtcacggatGatggagcgccgctgtttggg	5	9	17	10	4	1	1	1	1	0	0	2	3	2	3	3	5	1	2	3	5	0	1			TCGA-DU-7304-01A-12D-2086-08	TCGA-DU-7304-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f6d3a9-9f7d-4ac3-bef2-23a6ca0413fc	b95bb15a-325a-459a-aadc-d4f68cee6a65	g.chrX:153297774G>A	ENST00000303391.6	-	3	510	c.261C>T	c.(259-261)atC>atT	p.I87I	MECP2_ENST00000453960.2_Silent_p.I99I|MECP2_ENST00000407218.1_Silent_p.I87I	NM_004992.3	NP_004983.1	P51608	MECP2_HUMAN	methyl CpG binding protein 2 (Rett syndrome)	87					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	heterochromatin|nucleus	double-stranded methylated DNA binding|protein domain specific binding|protein N-terminus binding|transcription corepressor activity			breast(2)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|prostate(2)|urinary_tract(1)	23	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGTCACGGATGATGGAGCGCC	0.617													A	153297774	G	A	153297774	2	1	401	1	0	0	0	0	0	0	0	1	9498	1280	45	2		2	MECP2	23	153297774	Silent	SNP	G	TCGA-DU-7304-01A-12D-2086-08	76408683	153297774	1972786	49	40870											
VWA1	64856	broad.mit.edu	37	chr1	1374627	1374627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgccagggaacgccacGgactggatctgggccggcct	7	5	15	14	3	1	0	0	0	1	0	1	3	1	3	4	5	3	1	4	5	1	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:1374627G>A	ENST00000476993.1	+	3	876	c.798G>A	c.(796-798)acG>acA	p.T266T	VWA1_ENST00000338660.5_3'UTR|VWA1_ENST00000404702.3_Silent_p.T54T	NM_022834.4	NP_073745.2	Q6PCB0	VWA1_HUMAN	von Willebrand factor A domain containing 1	266	Fibronectin type-III 1.					basement membrane				NS(1)|breast(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGAACGCCACGGACTGGATCT	0.697													A	1374627	G	A	1374627	2	1	402	1	0	0	0	0	0	0	0	1	17340	1103	39	1		1	VWA1	1	1374627	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		1374627	247875994	1	40871											
MFN2	9927	broad.mit.edu	37	chr1	12071583	12071583	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggttggttggacagtgagctCaacatgttcacacaccagta	11	10	11	9	0	2	1	2	1	0	0	2	2	2	2	1	3	2	5	1	3	2	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12071583C>T	ENST00000235329.5	+	19	2557	c.2235C>T	c.(2233-2235)ctC>ctT	p.L745L	MFN2_ENST00000444836.1_Silent_p.L745L	NM_014874.3	NP_055689.1	O95140	MFN2_HUMAN	mitofusin 2	745					blood coagulation|mitochondrial fusion|mitochondrial membrane organization|mitochondrion localization|negative regulation of Ras protein signal transduction|negative regulation of smooth muscle cell proliferation|protein targeting to mitochondrion	cytosol|integral to membrane|intrinsic to mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	20	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.25e-06)|COAD - Colon adenocarcinoma(227;0.000302)|BRCA - Breast invasive adenocarcinoma(304;0.000329)|Kidney(185;0.000896)|KIRC - Kidney renal clear cell carcinoma(229;0.00274)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		ACAGTGAGCTCAACATGTTCA	0.537													T	12071583	C	T	12071583	2	4	402	1	0	0	0	0	0	0	0	1	9599	813	29	2		2	MFN2	1	12071583	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	10696956	12071583	237179038	2	40872											
PRAMEF4	400735	broad.mit.edu	37	chr1	12943051	12943051	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaggactgcaccatcagCttcagggcctcacagcgtct	8	7	11	15	1	4	0	3	0	1	0	4	1	4	1	3	3	3	2	3	3	0	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:12943051C>T	ENST00000235349.5	-	2	235	c.165G>A	c.(163-165)aaG>aaA	p.K55K		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	55										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GCACCATCAGCTTCAGGGCCT	0.602													T	12943051	C	T	12943051	2	4	402	1	0	0	0	0	0	0	0	1	12522	796	28	2		2	PRAMEF4	1	12943051	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	871468	12943051	236307570	3	40873											
NBPF1	55672	broad.mit.edu	37	chr1	16893743	16893743	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttctgtagggctggcAtgagtcagtcagttcaagat	9	11	13	8	0	4	2	3	1	1	1	4	2	4	2	0	3	0	5	0	3	2	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:16893743A>G	ENST00000430580.2	-	25	3657	c.2770T>C	c.(2770-2772)Tgc>Cgc	p.C924R	NBPF1_ENST00000432949.1_3'UTR|NBPF1_ENST00000420031.2_3'UTR	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	924	NBPF 5.					cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TAGGGCTGGCATGAGTCAGTC	0.478													G	16893743	A	G	16893743	3	3	402	1	0	0	0	0	1	0	0	0	10268	217	8	3	674	3	NBPF1	1	16893743	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	3950692	16893743	232356878	4	40874											
AHDC1	27245	broad.mit.edu	37	chr1	27875353	27875355	+	In_Frame_Del	DEL	AGG	AGG	-																															gttctcgggcgagggctggaAggaggaggaggaggaggagg																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:27875353_27875355delAGG	ENST00000374011.2	-	6	4240_4242	c.3272_3274delCCT	c.(3271-3276)tccttc>ttc	p.S1091del	AHDC1_ENST00000247087.5_In_Frame_Del_p.S1091del	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1091							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GAGGGCTGGAaggaggaggagga	0.665													-	27875355	AGG	-	27875353	7	5	402	1	0	1	0	1	0	0	0	0	412	72	3	0	1541	0	AHDC1	1	27875353	In_Frame_Del	DEL	AGG	TCGA-DU-7306-01A-11D-2086-08	10981610	27875353	221375268	5	40875											
USP24	23358	broad.mit.edu	37	chr1	55590210	55590210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttaattggctggctaCtcccaacaagatcaagccgt	10	13	7	11	1	2	1	1	0	1	1	3	1	3	1	2	2	3	2	2	2	5	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:55590210C>A	ENST00000294383.6	-	35	4051	c.4052G>T	c.(4051-4053)aGt>aTt	p.S1351I	USP24_ENST00000407756.1_Missense_Mutation_p.S1191I	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1351					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						TGGCTGGCTACTCCCAACAAG	0.433													A	55590210	C	A	55590210	3	1	402	1	0	0	0	0	1	0	0	0	17157	565	20	4	3946	4	USP24	1	55590210	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	27714857	55590210	193660411	6	40876											
JAK1	3716	broad.mit.edu	37	chr1	65323387	65323387	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaggatgttgtcaaagtcGgtgcagctccacctcagcac	10	9	11	11	1	2	1	2	1	0	0	4	2	3	2	2	2	3	4	2	2	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:65323387G>A	ENST00000342505.4	-	10	1658	c.1410C>T	c.(1408-1410)acC>acT	p.T470T		NM_002227.2	NP_002218.2	P23458	JAK1_HUMAN	Janus kinase 1	470	SH2.				interferon-gamma-mediated signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to antibiotic|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|endomembrane system|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(48)|kidney(3)|large_intestine(8)|liver(2)|lung(19)|ovary(1)|prostate(12)|skin(1)|soft_tissue(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	120				BRCA - Breast invasive adenocarcinoma(111;0.0485)		TGTCAAAGTCGGTGCAGCTCC	0.527			Mis		ALL								A	65323387	G	A	65323387	2	1	402	1	0	0	0	0	0	0	0	1	7995	1103	39	1		1	JAK1	1	65323387	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	9733177	65323387	183927234	7	40877											
LRRC8D	55144	broad.mit.edu	37	chr1	90401127	90401127	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgttgtggaagatcacCtttttgataccctgccactc	7	14	9	11	0	1	2	1	1	0	1	2	3	1	3	3	2	2	2	3	2	2	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:90401127C>G	ENST00000337338.5	+	3	2907	c.2500C>G	c.(2500-2502)Ctt>Gtt	p.L834V	LRRC8D_ENST00000394593.3_Missense_Mutation_p.L834V	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	834						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		GGAAGATCACCTTTTTGATAC	0.478													G	90401127	C	G	90401127	3	3	402	1	0	0	0	0	1	0	0	0	9094	681	24	4	2502	4	LRRC8D	1	90401127	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	25077740	90401127	158849494	8	40878											
LPPR4	9890	broad.mit.edu	37	chr1	99753520	99753520	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgtccttcattcttaGttgcctatattggcatcatc	6	20	5	10	0	4	0	2	0	2	0	6	0	5	0	2	1	1	2	2	1	3	9			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:99753520G>C	ENST00000370185.3	+	2	719		c.e2-1		LPPR4_ENST00000457765.1_Splice_Site	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN									phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		TTCATTCTTAGTTGCCTATAT	0.433													C	99753520	G	C	99753520	5	2	402	1	0	0	0	0	0	0	1	0	8997	1043	36	4	228	4	LPPR4	1	99753520	Splice_Site	SNP	G	TCGA-DU-7306-01A-11D-2086-08	9352393	99753520	149497101	9	40879											
GJA8	2703	broad.mit.edu	37	chr1	147381232	147381232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggataaggagggtgaaaaaGaagagccgcagtcggagaag	16	4	17	4	2	0	4	0	1	0	3	1	7	0	6	1	4	1	1	1	4	5	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:147381232G>C	ENST00000240986.4	+	2	1203	c.1150G>C	c.(1150-1152)Gaa>Caa	p.E384Q	GJA8_ENST00000369235.1_Missense_Mutation_p.E384Q	NM_005267.4	NP_005258.2	P48165	CXA8_HUMAN	gap junction protein, alpha 8, 50kDa	384					cell communication|visual perception	connexon complex|integral to plasma membrane	channel activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|stomach(1)	37	all_hematologic(923;0.0276)					GGGTGAAAAAGAAGAGCCGCA	0.582													C	147381232	G	C	147381232	3	2	402	1	0	0	0	0	1	0	0	0	6461	943	33	4	1152	4	GJA8	1	147381232	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	47627712	147381232	101869389	10	40880											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													T	153907309	C	T	153907309	2	4	402	1	0	0	0	0	0	0	0	1	4473	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	6526077	153907309	95343312	11	40881											
LAMC2	3918	broad.mit.edu	37	chr1	183201918	183201918	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtcagtaccagaaccgaGttcgggatactcacaggctc	12	7	11	11	2	2	1	2	0	0	1	4	4	2	2	2	2	3	3	2	2	4	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:183201918G>C	ENST00000264144.4	+	14	2211	c.2146G>C	c.(2146-2148)Gtt>Ctt	p.V716L	LAMC2_ENST00000493293.1_Missense_Mutation_p.V716L	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	716	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						CCAGAACCGAGTTCGGGATAC	0.522													C	183201918	G	C	183201918	3	2	402	1	0	0	0	0	1	0	0	0	8674	1029	36	4	2200	4	LAMC2	1	183201918	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	29294609	183201918	66048703	12	40882											
NAV1	89796	broad.mit.edu	37	chr1	201618190	201618190	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggtccaagggccgtgaaGctccgctgatgtccaagacg	8	7	15	11	3	0	3	0	2	0	1	3	3	3	3	4	3	1	2	4	3	3	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:201618190G>C	ENST00000367296.4	+	1	814	c.394G>C	c.(394-396)Gct>Cct	p.A132P	NAV1_ENST00000295624.6_Missense_Mutation_p.A132P|NAV1_ENST00000367297.4_Missense_Mutation_p.A132P|NAV1_ENST00000367302.1_Missense_Mutation_p.A145P|NAV1_ENST00000367300.3_Missense_Mutation_p.A132P	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	132					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GGGCCGTGAAGCTCCGCTGAT	0.647													C	201618190	G	C	201618190	3	2	402	1	0	0	0	0	1	0	0	0	10259	971	34	4	396	4	NAV1	1	201618190	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	18416272	201618190	47632431	13	40883											
C1orf101	257044	broad.mit.edu	37	chr1	244773582	244773582	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagacatggaagtcaatgaTtgaacttaacaagcacctcc	16	8	7	10	0	1	3	1	2	0	1	2	4	2	4	2	1	3	1	2	1	5	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:244773582T>C	ENST00000366534.4	+	19	2498	c.2444T>C	c.(2443-2445)aTt>aCt	p.I815T	C1orf101_ENST00000366533.4_Missense_Mutation_p.I815T|C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366531.3_Missense_Mutation_p.I664T	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	815						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AAGTCAATGATTGAACTTAAC	0.388													C	244773582	T	C	244773582	3	2	402	1	0	0	0	0	1	0	0	0	1996	1493	52	3	2518	3	C1orf101	1	244773582	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	43155392	244773582	4477039	14	40884											
NLRP3	114548	broad.mit.edu	37	chr1	247608070	247608070	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctgggcgacctgggggtCatgatgttctgtgaagtgct	6	11	16	8	1	2	2	1	2	1	0	2	4	2	2	2	3	1	2	2	3	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:247608070C>G	ENST00000366497.2	+	8	3567	c.2787C>G	c.(2785-2787)gtC>gtG	p.V929V	NLRP3_ENST00000366496.2_Silent_p.V929V|NLRP3_ENST00000336119.3_Silent_p.V986V|NLRP3_ENST00000348069.2_Silent_p.V872V|NLRP3_ENST00000391827.2_Silent_p.V929V|NLRP3_ENST00000391828.3_Silent_p.V986V	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	986					detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			ACCTGGGGGTCATGATGTTCT	0.577													G	247608070	C	G	247608070	2	3	402	1	0	0	0	0	0	0	0	1	10554	813	29	4		4	NLRP3	1	247608070	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	2834488	247608070	1642551	15	40885											
TRIM58	25893	broad.mit.edu	37	chr1	248028031	248028031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtggaaatgcagaggcagCgcttcagattggagtttgag	12	9	15	5	1	1	3	1	1	0	2	1	5	1	5	0	3	2	4	0	3	2	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr1:248028031C>T	ENST00000366481.3	+	3	589	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GCAGAGGCAGCGCTTCAGATT	0.592													T	248028031	C	T	248028031	3	4	402	1	0	0	0	0	1	0	0	0	16632	768	27	1	551	1	TRIM58	1	248028031	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	419961	248028031	1222590	16	40886											
EPT1	85465	broad.mit.edu	37	chr2	26587719	26587719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtatttcctacttggctggCgcccaatctgataacttttt	7	16	8	10	1	1	1	0	1	1	0	2	1	2	1	2	3	2	2	2	3	4	7			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:26587719C>T	ENST00000260585.7	+	3	265	c.146C>T	c.(145-147)gCg>gTg	p.A49V		NM_033505.2	NP_277040.1	Q9C0D9	EPT1_HUMAN	ethanolaminephosphotransferase 1 (CDP-ethanolamine-specific)	49					phospholipid biosynthetic process	integral to membrane	ethanolaminephosphotransferase activity|metal ion binding										ACTTGGCTGGCGCCCAATCTG	0.348													T	26587719	C	T	26587719	3	4	402	1	0	0	0	0	1	0	0	0	5240	768	27	1	156	1	EPT1	2	26587719	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		26587719	216611654	17	40887											
IL1R1	3554	broad.mit.edu	37	chr2	102785082	102785082	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaaacccacaaggcctgTgattgtgagcccagctaatg	14	7	9	11	0	0	2	0	2	0	0	0	2	0	2	3	1	4	1	3	1	4	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:102785082T>C	ENST00000410023.1	+	7	998	c.680T>C	c.(679-681)gTg>gCg	p.V227A	IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000409329.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409929.1_Missense_Mutation_p.V227A|IL1R1_ENST00000424272.1_Missense_Mutation_p.V227A|IL1R1_ENST00000409288.1_Missense_Mutation_p.V227A|IL1R1_ENST00000233946.3_Missense_Mutation_p.V227A			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	227	Ig-like C2-type 3.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	ACAAGGCCTGTGATTGTGAGC	0.398													C	102785082	T	C	102785082	3	2	402	1	0	0	0	0	1	0	0	0	7716	1696	59	3	698	3	IL1R1	2	102785082	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	76197363	102785082	140414291	18	40888											
CXCR4	7852	broad.mit.edu	37	chr2	136872470	136872470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacttgaagactcagacTcagtggaaacagatgaatgt	17	8	10	6	0	2	5	2	2	0	3	2	7	2	6	0	1	2	0	0	1	5	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:136872470T>C	ENST00000409817.1	-	1	1343	c.1040A>G	c.(1039-1041)gAg>gGg	p.E347G	CXCR4_ENST00000466288.1_5'UTR|CXCR4_ENST00000241393.3_Missense_Mutation_p.E343G	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	343					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	AGACTCAGACTCAGTGGAAAC	0.403													C	136872470	T	C	136872470	3	2	402	1	0	0	0	0	1	0	0	0	4126	1551	54	3	34	3	CXCR4	2	136872470	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	34087388	136872470	106326903	19	40889											
ITGB6	3694	broad.mit.edu	37	chr2	160982991	160982991	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacaaacacagtccccGcgcccgctgcagagcactcc	9	5	8	19	3	0	1	0	0	0	1	2	1	2	1	5	0	4	3	5	0	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:160982991G>A	ENST00000283249.2	-	11	2019	c.1782C>T	c.(1780-1782)cgC>cgT	p.R594R	ITGB6_ENST00000428609.2_Silent_p.R552R|ITGB6_ENST00000409872.1_Silent_p.R594R|ITGB6_ENST00000409967.2_Intron	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	594	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						CACAGTCCCCGCGCCCGCTGC	0.577													A	160982991	G	A	160982991	2	1	402	1	0	0	0	0	0	0	0	1	7957	1074	38	1		1	ITGB6	2	160982991	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	24110521	160982991	82216382	20	40890											
TTN	7273	broad.mit.edu	37	chr2	179495026	179495026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggaaatccaccccaccCgtctggtccaggcgacagtt	8	8	10	15	2	1	0	0	0	1	0	3	2	3	1	5	3	0	2	5	3	1	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:179495026C>T	ENST00000589042.1	-	239	44447	c.44223G>A	c.(44221-44223)acG>acA	p.T14741T	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Silent_p.T5676T|TTN_ENST00000359218.5_Silent_p.T5801T|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Silent_p.T5868T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Silent_p.T13100T|TTN_ENST00000342992.6_Silent_p.T12173T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13100	Fibronectin type-III 6.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCACCCCACCCGTCTGGTCCA	0.398													T	179495026	C	T	179495026	2	4	402	1	0	0	0	0	0	0	0	1	16837	639	23	1		1	TTN	2	179495026	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	18512035	179495026	63704347	21	40891											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	402	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	29618086	209113112	34086261	22	40892											
UGT1A1	54658	broad.mit.edu	37	chr2	234622136	234622136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctaagtacctgtcgAttcctgctgtgtttttcttg	4	18	10	9	1	1	0	0	0	1	0	3	1	2	0	2	1	3	5	2	1	2	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr2:234622136A>T	ENST00000608381.1	+	1	499	c.499A>T	c.(499-501)Att>Ttt	p.I167F	UGT1A6_ENST00000406651.1_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A5_ENST00000373414.3_Missense_Mutation_p.I167F|UGT1A6_ENST00000373424.1_Intron	NM_019078.1	NP_061951.1	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GTACCTGTCGATTCCTGCTGT	0.478													T	234622136	A	T	234622136	3	4	402	1	0	0	0	0	1	0	0	0	17046	333	12	5		5	UGT1A1	2	234622136	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	25509024	234622136	8577237	23	40893											
CNTN4	152330	broad.mit.edu	37	chr3	3078909	3078909	+	Frame_Shift_Del	DEL	T	T	-																															ttcacagcgaccgtggtgggTttgaacccttgggttgaata																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078909delT	ENST00000397461.1	+	17	2373	c.1989delT	c.(1987-1989)ggtfs	p.G663fs	CNTN4_ENST00000418658.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000397459.2_Frame_Shift_Del_p.G335fs|CNTN4_ENST00000358480.3_Frame_Shift_Del_p.G444fs|CNTN4_ENST00000427331.1_Frame_Shift_Del_p.G663fs|CNTN4_ENST00000448906.2_Frame_Shift_Del_p.G335fs	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	663	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		CCGTGGTGGGTTTGAACCCTT	0.502													-	3078909	T	-	3078909	7	5	402	1	0	1	0	1	0	0	0	0	3674	1712	60	0	2047	0	CNTN4	3	3078909	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08		3078909	194943521	24	40894			1	49		2	2	23	N	T_G	5.685193e-05
CNTN4	152330	broad.mit.edu	37	chr3	3078931	3078931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaacccttgggttgaatatGaattccgcacagttgcagcc	10	11	10	10	1	0	3	0	3	0	0	1	3	1	3	3	1	3	4	3	1	4	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:3078931G>C	ENST00000397461.1	+	17	2395	c.2011G>C	c.(2011-2013)Gaa>Caa	p.E671Q	CNTN4_ENST00000427331.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000418658.1_Missense_Mutation_p.E671Q|CNTN4_ENST00000448906.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000397459.2_Missense_Mutation_p.E343Q|CNTN4_ENST00000358480.3_Missense_Mutation_p.E452Q	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	671	Fibronectin type-III 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding	p.E343Q(1)|p.E671Q(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GGTTGAATATGAATTCCGCAC	0.522													C	3078931	G	C	3078931	3	2	402	1	0	0	0	0	1	0	0	0	3674	1291	45	4	2069	4	CNTN4	3	3078931	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	22	3078931	194943499	25	40895			1	49		2	2	23	N	T_G	5.685193e-05
RAD54L2	23132	broad.mit.edu	37	chr3	51663382	51663382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggatcaattggagcctgTtaccaaagcagcacagcaag	14	6	12	9	0	1	0	1	0	0	0	1	3	1	3	2	3	5	4	2	3	4	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:51663382T>C	ENST00000409535.2	+	4	499	c.374T>C	c.(373-375)gTt>gCt	p.V125A		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		TTGGAGCCTGTTACCAAAGCA	0.463													C	51663382	T	C	51663382	3	2	402	1	0	0	0	0	1	0	0	0	13082	1725	60	3	384	3	RAD54L2	3	51663382	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	48584451	51663382	146359048	26	40896											
ABHD10	55347	broad.mit.edu	37	chr3	111705808	111705808	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttatgcttcatgctgcAattgcacgaccagagaaggt	10	11	11	9	1	1	1	1	0	0	1	1	3	1	1	1	2	4	5	1	2	3	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:111705808A>C	ENST00000273359.3	+	4	513	c.486A>C	c.(484-486)gcA>gcC	p.A162A	ABHD10_ENST00000534857.1_Silent_p.A5A|ABHD10_ENST00000494817.1_Silent_p.A162A	NM_018394.2	NP_060864.1	Q9NUJ1	ABHDA_HUMAN	abhydrolase domain containing 10	162						mitochondrion	serine-type peptidase activity			large_intestine(2)|lung(7)|skin(1)	10						TTCATGCTGCAATTGCACGAC	0.383													C	111705808	A	C	111705808	2	2	402	1	0	0	0	0	0	0	0	1	74	117	5	5		5	ABHD10	3	111705808	Silent	SNP	A	TCGA-DU-7306-01A-11D-2086-08	60042426	111705808	86316622	27	40897											
ZDHHC23	254887	broad.mit.edu	37	chr3	113677375	113677375	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggctcctctgcgggctcatCgtggacacaggccagtacaa	8	7	12	14	3	2	0	1	0	1	0	4	1	3	1	2	4	2	3	2	4	2	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:113677375C>T	ENST00000330212.3	+	5	1505	c.1206C>T	c.(1204-1206)atC>atT	p.I402I	ZDHHC23_ENST00000498275.1_Silent_p.I396I|ZDHHC23_ENST00000488129.1_3'UTR	NM_173570.3	NP_775841.2	Q8IYP9	ZDH23_HUMAN	zinc finger, DHHC-type containing 23	402						integral to membrane	acyltransferase activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|urinary_tract(2)	16						GCGGGCTCATCGTGGACACAG	0.602													T	113677375	C	T	113677375	2	4	402	1	0	0	0	0	0	0	0	1	17715	874	31	1		1	ZDHHC23	3	113677375	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	1971567	113677375	84345055	28	40898											
GOLGB1	2804	broad.mit.edu	37	chr3	121409831	121409831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggagttcattgaaaaggCggtttcagaaagaagagcat	15	9	13	4	1	2	4	2	1	0	3	2	5	2	5	0	3	1	3	0	3	4	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr3:121409831C>T	ENST00000393667.3	-	14	8490	c.8380G>A	c.(8380-8382)Gcc>Acc	p.A2794T	GOLGB1_ENST00000340645.5_Missense_Mutation_p.A2789T	NM_001256486.1	NP_001243415.1	Q14789	GOGB1_HUMAN	golgin B1	2789					Golgi organization	ER-Golgi intermediate compartment|Golgi membrane|Golgi stack|integral to membrane	protein binding	p.A2789T(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		ATTGAAAAGGCGGTTTCAGAA	0.423													T	121409831	C	T	121409831	3	4	402	1	0	0	0	0	1	0	0	0	6618	768	27	1	1450	1	GOLGB1	3	121409831	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	7732456	121409831	76612599	29	40899											
AFM	173	broad.mit.edu	37	chr4	74361141	74361141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccctccaggttgttacCgttacgcggtaggttccatt	9	12	9	11	3	0	0	0	0	0	0	2	0	2	0	4	3	3	5	4	3	5	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:74361141C>T	ENST00000226355.3	+	9	1276	c.1183C>T	c.(1183-1185)Cgt>Tgt	p.R395C		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	395	Albumin 2.		R -> H (in dbSNP:rs41265665).		vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGTTGTTACCGTTACGCGGT	0.388													T	74361141	C	T	74361141	3	4	402	1	0	0	0	0	1	0	0	0	361	652	23	1	1217	1	AFM	4	74361141	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		74361141	116793135	30	40900											
TIGD2	166815	broad.mit.edu	37	chr4	90035215	90035215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaagaacttgacagtgttgGatgcaatttatgaagtgtca	13	12	12	4	0	1	3	1	2	0	1	1	5	1	5	0	2	2	2	0	2	5	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:90035215G>T	ENST00000317005.2	+	1	1248	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_145715.2	NP_663761.1	Q4W5G0	TIGD2_HUMAN	tigger transposable element derived 2	364	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	14		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;3.86e-05)		GACAGTGTTGGATGCAATTTA	0.378													T	90035215	G	T	90035215	3	4	402	1	0	0	0	0	1	0	0	0	15996	1174	41	4	1092	4	TIGD2	4	90035215	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	15674074	90035215	101119061	31	40901											
SEC24B	10427	broad.mit.edu	37	chr4	110445986	110445986	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgacttaggtggtacaacatCttggccctgcaactgatttt	9	14	9	9	0	1	2	0	2	1	0	1	2	1	2	1	3	4	2	1	3	4	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:110445986C>G	ENST00000265175.5	+	15	2576	c.2521C>G	c.(2521-2523)Ctt>Gtt	p.L841V	SEC24B_ENST00000399100.2_Missense_Mutation_p.L806V|SEC24B_ENST00000504968.2_Missense_Mutation_p.L871V	NM_006323.2	NP_006314.2	O95487	SC24B_HUMAN	SEC24 family member B	841					COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|Golgi membrane|perinuclear region of cytoplasm	protein binding|transporter activity|zinc ion binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;3.03e-05)		GGTACAACATCTTGGCCCTGC	0.363													G	110445986	C	G	110445986	3	3	402	1	0	0	0	0	1	0	0	0	14088	913	32	4	2579	4	SEC24B	4	110445986	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	20410771	110445986	80708290	32	40902											
FHDC1	85462	broad.mit.edu	37	chr4	153896041	153896041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagcccctcctaccggcCcccgaacacccgccgctccc	5	4	6	26	4	0	0	0	0	0	0	3	1	3	0	10	1	3	1	10	1	2	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr4:153896041C>T	ENST00000511601.1	+	12	1786	c.1598C>T	c.(1597-1599)cCc>cTc	p.P533L	FHDC1_ENST00000260008.3_Missense_Mutation_p.P533L			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	533					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					TCCTACCGGCCCCCGAACACC	0.667													T	153896041	C	T	153896041	3	4	402	1	0	0	0	0	1	0	0	0	5925	623	22	2	1640	2	FHDC1	4	153896041	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	43450055	153896041	37258235	33	40903											
FTMT	94033	broad.mit.edu	37	chr5	121187709	121187709	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcagcccttcgctggcGtctctgcgcccggtgcgctg	3	9	12	17	5	2	0	1	0	1	0	4	0	2	0	2	2	3	2	2	2	0	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:121187709G>A	ENST00000321339.1	+	1	60	c.51G>A	c.(49-51)gcG>gcA	p.A17A		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	17					cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CTTCGCTGGCGTCTCTGCGCC	0.726													A	121187709	G	A	121187709	2	1	402	1	0	0	0	0	0	0	0	1	6137	1132	40	1		1	FTMT	5	121187709	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		121187709	59727551	34	40904											
RNF14	9604	broad.mit.edu	37	chr5	141353304	141353304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttcaagatatttgtgAgcggttagttaataatttct	13	17	8	3	1	2	3	1	1	1	2	2	3	2	3	0	1	1	2	0	1	6	7			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr5:141353304A>G	ENST00000394520.2	+	3	460	c.151A>G	c.(151-153)Agc>Ggc	p.S51G	AC005740.5_ENST00000520882.1_RNA|RNF14_ENST00000502341.1_3'UTR|RNF14_ENST00000394514.2_5'UTR|RNF14_ENST00000540015.1_Missense_Mutation_p.S51G|RNF14_ENST00000347642.3_Missense_Mutation_p.S51G|RNF14_ENST00000356143.1_Missense_Mutation_p.S51G|RNF14_ENST00000394515.3_Missense_Mutation_p.S51G|RNF14_ENST00000394519.1_Missense_Mutation_p.S51G	NM_001201365.1|NM_004290.4	NP_001188294.1|NP_004281.1	Q9UBS8	RNF14_HUMAN	ring finger protein 14	51	RWD.				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|protein ubiquitination|regulation of androgen receptor signaling pathway|regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|small conjugating protein ligase activity|transcription coactivator activity|zinc ion binding			cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15		all_hematologic(541;0.0536)|Ovarian(839;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GATATTTGTGAGCGGTTAGTT	0.308													G	141353304	A	G	141353304	3	3	402	1	0	0	0	0	1	0	0	0	13534	304	11	3	153	3	RNF14	5	141353304	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	20165595	141353304	39561956	35	40905											
ABCF1	23	broad.mit.edu	37	chr6	30558337	30558337	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcgttgtcagccatgatgcCcgactcatcacagaaaccaa	13	8	7	13	2	3	2	3	1	0	1	4	3	3	2	3	0	3	1	3	0	2	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:30558337C>G	ENST00000326195.8	+	25	2509	c.2397C>G	c.(2395-2397)gcC>gcG	p.A799A	ABCF1_ENST00000376545.3_Silent_p.A761A|ABCF1_ENST00000396515.4_Silent_p.A192A	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	799	ABC transporter 2.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						GCCATGATGCCCGACTCATCA	0.488													G	30558337	C	G	30558337	2	3	402	1	0	0	0	0	0	0	0	1	65	610	22	4		4	ABCF1	6	30558337	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08		30558337	140556730	36	40906											
FAM83B	222584	broad.mit.edu	37	chr6	54806708	54806708	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtctagtccattgcttaAttacaacactggtgtttatc	10	15	7	9	0	1	0	0	0	1	0	3	0	2	0	1	2	3	2	1	2	5	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:54806708A>G	ENST00000306858.7	+	5	3055	c.2939A>G	c.(2938-2940)aAt>aGt	p.N980S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	980										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					CCATTGCTTAATTACAACACT	0.368													G	54806708	A	G	54806708	3	3	402	1	0	0	0	0	1	0	0	0	5684	101	4	3	2953	3	FAM83B	6	54806708	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	24248371	54806708	116308359	37	40907											
ANKRD6	22881	broad.mit.edu	37	chr6	90312803	90312803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaacacggagatcatcgCggcgctcatccacgaagggt	10	5	15	11	5	2	1	2	0	0	1	4	4	3	2	1	5	1	1	1	5	2	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:90312803C>T	ENST00000369408.5	+	4	624	c.275C>T	c.(274-276)gCg>gTg	p.A92V	ANKRD6_ENST00000339746.4_Missense_Mutation_p.A92V|ANKRD6_ENST00000485637.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520886.2_3'UTR|ANKRD6_ENST00000447838.2_Missense_Mutation_p.A92V|ANKRD6_ENST00000522441.1_Missense_Mutation_p.A92V|ANKRD6_ENST00000520793.1_Missense_Mutation_p.A92V	NM_001242813.1	NP_001229742.1	Q9Y2G4	ANKR6_HUMAN	ankyrin repeat domain 6	92							protein binding			NS(1)|endometrium(3)|large_intestine(7)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|stomach(2)	21		all_cancers(76;1.22e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;1.83e-05)|Lung NSC(302;0.239)		BRCA - Breast invasive adenocarcinoma(108;0.0209)		GAGATCATCGCGGCGCTCATC	0.612													T	90312803	C	T	90312803	3	4	402	1	0	0	0	0	1	0	0	0	685	768	27	1	285	1	ANKRD6	6	90312803	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	35506095	90312803	80802264	38	40908											
AIM1	202	broad.mit.edu	37	chr6	107009224	107009224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttgtcttctagaagcgaaTttatttcagacttcgaaaca	12	16	6	7	2	3	2	1	0	2	2	4	4	3	2	0	0	2	0	0	0	5	8			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:107009224T>C	ENST00000369066.3	+	18	5250	c.4763T>C	c.(4762-4764)aTt>aCt	p.I1588T	AIM1_ENST00000535438.1_Missense_Mutation_p.I407T	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1588	Ricin B-type lectin.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		TAGAAGCGAATTTATTTCAGA	0.418													C	107009224	T	C	107009224	3	2	402	1	0	0	0	0	1	0	0	0	430	1493	52	3	4833	3	AIM1	6	107009224	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	16696421	107009224	64105843	39	40909											
TRDN	10345	broad.mit.edu	37	chr6	123687319	123687319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaatctcctctttggctcGttcagtttctgcaagttcag	7	15	7	12	1	5	0	2	0	3	0	7	0	5	0	2	1	1	5	2	1	2	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:123687319G>A	ENST00000334268.4	-	20	1599	c.1282C>T	c.(1282-1284)Cga>Tga	p.R428*	TRDN_ENST00000398178.3_Nonsense_Mutation_p.R428*			Q13061	TRDN_HUMAN	triadin	428					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding	p.R428*(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		TCTTTGGCTCGTTCAGTTTCT	0.303													A	123687319	G	A	123687319	4	1	402	1	0	0	0	0	0	1	0	0	16569	1153	40	1	995	1	TRDN	6	123687319	Nonsense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	16678095	123687319	47427748	40	40910											
MYB	4602	broad.mit.edu	37	chr6	135522782	135522782	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctatatgcttttaggtggaAtctccaactgataaatcagg	12	14	8	7	0	3	1	1	1	2	0	4	2	3	2	1	3	2	1	1	3	7	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr6:135522782A>G	ENST00000341911.5	+	14	2155	c.1956A>G	c.(1954-1956)gaA>gaG	p.E652E	MYB_ENST00000528774.1_Silent_p.E649E|MYB_ENST00000531845.1_3'UTR|MYB_ENST00000525369.1_Silent_p.E446E|MYB_ENST00000534044.1_Intron|MYB_ENST00000442647.2_Silent_p.E528E|MYB_ENST00000527615.1_Silent_p.E531E|MYB_ENST00000534121.1_Silent_p.E636E|MYB_ENST00000533624.1_Silent_p.E496E|MYB_ENST00000316528.8_Silent_p.E531E|MYB_ENST00000367814.4_Silent_p.E531E	NM_001130173.1|NM_001161656.1|NM_001161658.1	NP_001123645.1|NP_001155128.1|NP_001155130.1	P10242	MYB_HUMAN	v-myb avian myeloblastosis viral oncogene homolog	538					blood coagulation|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone H3-K4 methylation|positive regulation of histone H3-K9 methylation|positive regulation of T-helper cell differentiation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear matrix	DNA binding|protein binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	28	all_epithelial(2;0.109)|Breast(56;0.158)|Colorectal(23;0.221)	Lung NSC(302;3.08e-05)|Ovarian(999;0.208)		OV - Ovarian serous cystadenocarcinoma(155;0.0079)|GBM - Glioblastoma multiforme(68;0.0117)		TTTAGGTGGAATCTCCAACTG	0.438			T	NFIB	adenoid cystic carcinoma								G	135522782	A	G	135522782	2	3	402	1	0	0	0	0	0	0	0	1	10083	98	4	3		3	MYB	6	135522782	Silent	SNP	A	TCGA-DU-7306-01A-11D-2086-08	11835463	135522782	35592285	41	40911											
ASB4	51666	broad.mit.edu	37	chr7	95165776	95165776	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcctgccattcttgtcctAaagcaattgaagttgtagtc	10	13	9	9	0	1	1	0	1	1	0	3	1	2	1	3	1	2	3	3	1	5	6			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:95165776A>G	ENST00000325885.5	+	4	1077	c.1006A>G	c.(1006-1008)Aaa>Gaa	p.K336E		NM_016116.2	NP_057200.1	Q9Y574	ASB4_HUMAN	ankyrin repeat and SOCS box containing 4	336					intracellular signal transduction					central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|pancreas(1)|prostate(1)|skin(2)	20	all_cancers(62;2.27e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.218)|all_lung(186;0.246)		STAD - Stomach adenocarcinoma(171;0.0151)			TTCTTGTCCTAAAGCAATTGA	0.423													G	95165776	A	G	95165776	3	3	402	1	0	0	0	0	1	0	0	0	1030	363	13	3	1092	3	ASB4	7	95165776	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		95165776	63972887	42	40912											
STAG3	10734	broad.mit.edu	37	chr7	99811425	99811425	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattctacagagctggataTtgaggtgagtgtccccagag	11	10	13	7	0	1	5	0	2	1	3	2	6	2	6	2	2	2	1	2	2	2	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:99811425T>C	ENST00000426455.1	+	33	4072	c.3665T>C	c.(3664-3666)aTt>aCt	p.I1222T	STAG3_ENST00000317296.5_Missense_Mutation_p.I1222T|STAG3_ENST00000394018.2_Missense_Mutation_p.I1164T|STAG3_ENST00000440830.1_3'UTR|GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron	NM_001282716.1	NP_001269645.1	Q9UJ98	STAG3_HUMAN	stromal antigen 3	1222					chromosome segregation|synaptonemal complex assembly	chromosome, centromeric region|meiotic cohesin complex|synaptonemal complex	binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(11)|lung(30)|ovary(5)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	66	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GAGCTGGATATTGAGGTGAGT	0.517													C	99811425	T	C	99811425	3	2	402	1	0	0	0	0	1	0	0	0	15340	1493	52	3	3791	3	STAG3	7	99811425	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	4645649	99811425	59327238	43	40913											
TMEM168	64418	broad.mit.edu	37	chr7	112424325	112424325	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aataatcagcatagccagagCtacaacaagcaaaatgacac	20	5	6	10	0	1	2	1	1	0	1	1	2	1	2	1	0	6	3	1	0	8	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr7:112424325C>A	ENST00000312814.6	-	2	1116	c.556G>T	c.(556-558)Gct>Tct	p.A186S	TMEM168_ENST00000454074.1_Missense_Mutation_p.A186S	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						ATAGCCAGAGCTACAACAAGC	0.363													A	112424325	C	A	112424325	3	1	402	1	0	0	0	0	1	0	0	0	16183	797	28	4	1553	4	TMEM168	7	112424325	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	12612900	112424325	46714338	44	40914											
CHD7	55636	broad.mit.edu	37	chr8	61654055	61654055	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atattttcagtgaaggtcttGaaggcctcggagaatgtggt	10	13	13	5	1	2	3	1	2	1	1	3	4	2	3	1	4	0	0	1	4	4	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:61654055G>C	ENST00000423902.2	+	2	543	c.64G>C	c.(64-66)Gaa>Caa	p.E22Q	CHD7_ENST00000525508.1_Missense_Mutation_p.E22Q|CHD7_ENST00000524602.1_Missense_Mutation_p.E22Q	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	22					central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGAAGGTCTTGAAGGCCTCGG	0.478													C	61654055	G	C	61654055	3	2	402	1	0	0	0	0	1	0	0	0	3360	1291	45	4	66	4	CHD7	8	61654055	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		61654055	84709967	45	40915											
CCNE2	9134	broad.mit.edu	37	chr8	95906307	95906307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcttggggggattccgTctggctgggctggggctgct	1	12	19	9	1	2	0	0	0	2	0	3	1	3	1	1	8	1	5	1	8	0	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:95906307T>C	ENST00000520509.1	-	3	307	c.55A>G	c.(55-57)Acg>Gcg	p.T19A	CCNE2_ENST00000308108.4_Missense_Mutation_p.T19A|CCNE2_ENST00000396133.3_Missense_Mutation_p.T19A			O96020	CCNE2_HUMAN	cyclin E2	19					cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	cytosol|nucleoplasm	protein kinase binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|prostate(1)	11	Breast(36;8.75e-07)					GGGGATTCCGTCTGGCTGGGC	0.453													C	95906307	T	C	95906307	3	2	402	1	0	0	0	0	1	0	0	0	2951	1667	58	3	1199	3	CCNE2	8	95906307	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08	34252252	95906307	50457715	46	40916											
ATAD2	29028	broad.mit.edu	37	chr8	124359562	124359562	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactgcagtttctcactaGtggtatagatctgtgggtag	9	13	11	8	0	2	1	1	0	2	1	3	1	2	1	1	2	2	4	1	2	5	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124359562G>C	ENST00000287394.5	-	16	2089	c.1982C>G	c.(1981-1983)aCt>aGt	p.T661S	ATAD2_ENST00000521903.1_5'UTR	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	661					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTTCTCACTAGTGGTATAGAT	0.423													C	124359562	G	C	124359562	3	2	402	1	0	0	0	0	1	0	0	0	1076	1029	36	4	2242	4	ATAD2	8	124359562	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	28453255	124359562	22004460	47	40917											
KLHL38	340359	broad.mit.edu	37	chr8	124664240	124664240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggctctgccattggccGgtctgtttgctgtacagtag	6	12	13	10	1	2	0	0	0	2	0	2	0	2	0	2	3	3	6	2	3	3	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr8:124664240G>A	ENST00000325995.7	-	1	950	c.927C>T	c.(925-927)acC>acT	p.T309T	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	309										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						GCCATTGGCCGGTCTGTTTGC	0.572													A	124664240	G	A	124664240	2	1	402	1	0	0	0	0	0	0	0	1	8448	1103	39	1		1	KLHL38	8	124664240	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	304678	124664240	21699782	48	40918											
KIAA1432	57589	broad.mit.edu	37	chr9	5769212	5769212	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccacttccaatcatcccagCctcttctatcagttctcctt	7	14	3	17	0	5	0	2	0	3	0	8	0	7	0	5	0	1	1	5	0	2	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:5769212C>A	ENST00000414202.2	+	22	3571	c.3380C>A	c.(3379-3381)gCc>gAc	p.A1127D	KIAA1432_ENST00000251879.6_Missense_Mutation_p.A1127D|KIAA1432_ENST00000381532.2_Missense_Mutation_p.A1048D|KIAA1432_ENST00000418622.3_Missense_Mutation_p.A1048D|KIAA1432_ENST00000449720.2_Missense_Mutation_p.A1011D	NM_001206557.1|NM_020829.3	NP_001193486.1|NP_065880.2	Q4ADV7	RIC1_HUMAN	KIAA1432	1127						integral to membrane				breast(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(23)|prostate(1)|upper_aerodigestive_tract(1)	45		Acute lymphoblastic leukemia(23;0.154)		GBM - Glioblastoma multiforme(50;0.000525)|Lung(218;0.122)		ATCATCCCAGCCTCTTCTATC	0.438													A	5769212	C	A	5769212	3	1	402	1	0	0	0	0	1	0	0	0	8291	739	26	4	3225	4	KIAA1432	9	5769212	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		5769212	135444219	49	40919											
ZNF462	58499	broad.mit.edu	37	chr9	109690957	109690957	+	Frame_Shift_Del	DEL	T	T	-																															tgtccgtacacacacggcacTttggagaaactaaaaatcca																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:109690957delT	ENST00000277225.5	+	3	5053	c.4764delT	c.(4762-4764)actfs	p.T1588fs	ZNF462_ENST00000441147.2_Frame_Shift_Del_p.T433fs|ZNF462_ENST00000457913.1_Frame_Shift_Del_p.T1588fs			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1588					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CACACGGCACTTTGGAGAAAC	0.532													-	109690957	T	-	109690957	7	5	402	1	0	1	0	1	0	0	0	0	18027	1596	56	0	4770	0	ZNF462	9	109690957	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08	103921745	109690957	31522474	50	40920											
RXRA	6256	broad.mit.edu	37	chr9	137293638	137293638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaacggcatgggcccGcctttctcggtcatcagctc	6	9	9	17	3	4	0	3	0	1	0	6	0	4	0	3	3	2	2	3	3	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:137293638G>A	ENST00000481739.1	+	2	241	c.189G>A	c.(187-189)ccG>ccA	p.P63P	RXRA_ENST00000356384.4_3'UTR	NM_002957.4	NP_002948.1	P19793	RXRA_HUMAN	retinoid X receptor, alpha	63	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	GCATGGGCCCGCCTTTCTCGG	0.697													A	137293638	G	A	137293638	2	1	402	1	0	0	0	0	0	0	0	1	13854	1074	38	1		1	RXRA	9	137293638	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	27602681	137293638	3919793	51	40921											
CACNA1B	774	broad.mit.edu	37	chr9	140772650	140772650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtccgcaaatacgcgAagcgcatcaccgagtggcca	11	5	11	14	7	1	0	1	0	0	0	3	2	2	0	3	1	2	2	3	1	3	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr9:140772650A>G	ENST00000371372.1	+	1	410	c.265A>G	c.(265-267)Aag>Gag	p.K89E	RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277551.2_Missense_Mutation_p.K89E|CACNA1B_ENST00000371355.4_Missense_Mutation_p.K89E|CACNA1B_ENST00000371357.1_Missense_Mutation_p.K89E|CACNA1B_ENST00000277549.5_5'UTR	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	89					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CAAATACGCGAAGCGCATCAC	0.701													G	140772650	A	G	140772650	3	3	402	1	0	0	0	0	1	0	0	0	2565	247	9	3	267	3	CACNA1B	9	140772650	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	3479012	140772650	440781	52	40922											
ADARB2	105	broad.mit.edu	37	chr10	1405926	1405926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccagcgcgttcttgggcGccaccgaccacgacagcttc	7	6	11	17	5	1	0	0	0	1	0	2	2	1	0	4	1	2	3	4	1	0	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr10:1405926G>A	ENST00000381312.1	-	3	699	c.374C>T	c.(373-375)gCg>gTg	p.A125V		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	125	DRBM 1.				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GTTCTTGGGCGCCACCGACCA	0.692													A	1405926	G	A	1405926	3	1	402	1	0	0	0	0	1	0	0	0	283	1087	38	1	1877	1	ADARB2	10	1405926	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		1405926	134128821	53	40923											
OR4C11	219429	broad.mit.edu	37	chr11	55371099	55371099	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtatatatgaatatacatgGgccaaagaataagatgacta	18	11	8	4	0	0	4	0	2	0	2	0	4	0	4	1	1	1	1	1	1	10	7			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:55371099G>T	ENST00000302231.4	-	1	775	c.751C>A	c.(751-753)Cca>Aca	p.P251T		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						AATATACATGGGCCAAAGAAT	0.438													T	55371099	G	T	55371099	3	4	402	1	0	0	0	0	1	0	0	0	11121	1232	43	4	183	4	OR4C11	11	55371099	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		55371099	79635417	54	40924											
ACTN3	89	broad.mit.edu	37	chr11	66328794	66328794	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgacagtttgcggcccagGccaatgccattggaccctgg	7	7	14	13	2	0	0	0	0	0	0	0	2	0	1	4	5	2	1	4	5	1	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr11:66328794G>C	ENST00000502692.1	+	0	2202				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGCGGCCCAGGCCAATGCCAT	0.652													C	66328794	G	C	66328794	1	2	402	0	1	0	0	0	0	0	0	0	206	1203	42	4		4	ACTN3	11	66328794	RNA	SNP	G	TCGA-DU-7306-01A-11D-2086-08	10957695	66328794	68677722	55	40925											
LPCAT3	10162	broad.mit.edu	37	chr12	7092611	7092611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accaaagttaaaataagcaaTtgagaggcctgtaaaggtat	18	9	9	5	0	0	1	0	1	0	1	0	2	0	1	2	2	1	4	2	2	8	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:7092611T>C	ENST00000261407.4	-	2	326	c.241A>G	c.(241-243)Att>Gtt	p.I81V		NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	81					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						AAATAAGCAATTGAGAGGCCT	0.418													C	7092611	T	C	7092611	3	2	402	1	0	0	0	0	1	0	0	0	8982	1493	52	3	1266	3	LPCAT3	12	7092611	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08		7092611	126759284	56	40926											
R3HDM2	22864	broad.mit.edu	37	chr12	57674222	57674222	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgctgctgctgctgCtgttgctgctgggcagtaca	4	13	14	10	0	0	0	0	0	0	0	0	0	0	0	0	1	9	12	0	1	1	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:57674222C>T	ENST00000402412.1	-	14	1653	c.1263G>A	c.(1261-1263)caG>caA	p.Q421Q	R3HDM2_ENST00000403821.2_Silent_p.Q407Q|R3HDM2_ENST00000413953.2_Silent_p.Q134Q|R3HDM2_ENST00000347140.3_Silent_p.Q407Q|RP11-123K3.4_ENST00000548184.1_3'UTR|R3HDM2_ENST00000441731.2_Silent_p.Q68Q|R3HDM2_ENST00000358907.2_Silent_p.Q407Q			Q9Y2K5	R3HD2_HUMAN	R3H domain containing 2	407	Gln-rich.					nucleus	nucleic acid binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(3)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	22						gctgctgctgctgttgctgct	0.567													T	57674222	C	T	57674222	2	4	402	1	0	0	0	0	0	0	0	1	12976	796	28	2		2	R3HDM2	12	57674222	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	50581611	57674222	76177673	57	40927											
ANAPC7	51434	broad.mit.edu	37	chr12	110824234	110824234	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctgccaagcttcccaataGgtccacgttatctcgcaata	11	11	6	13	2	2	0	0	0	2	0	5	0	4	0	3	1	2	3	3	1	6	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr12:110824234G>C	ENST00000455511.3	-	6	817	c.817C>G	c.(817-819)Cta>Gta	p.L273V	ANAPC7_ENST00000450008.2_Missense_Mutation_p.L273V	NM_016238.2	NP_057322.2	Q9UJX3	APC7_HUMAN	anaphase promoting complex subunit 7	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)	19						CTTCCCAATAGGTCCACGTTA	0.353													C	110824234	G	C	110824234	3	2	402	1	0	0	0	0	1	0	0	0	606	991	35	4	1010	4	ANAPC7	12	110824234	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	53150012	110824234	23027661	58	40928											
AKAP6	9472	broad.mit.edu	37	chr14	33292355	33292355	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggatgacgactccagtaTtgcaacagatgatgaaattt	14	11	10	6	1	0	5	0	4	0	1	1	7	1	6	1	1	2	2	1	1	3	3	rs74712664		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:33292355T>G	ENST00000280979.4	+	13	5506	c.5336T>G	c.(5335-5337)aTt>aGt	p.I1779S	AKAP6_ENST00000557272.1_Intron	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	1779					protein targeting	calcium channel complex|nuclear membrane|sarcoplasmic reticulum	protein kinase A binding|receptor binding			NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		GACTCCAGTATTGCAACAGAT	0.433													G	33292355	T	G	33292355	3	3	402	1	0	0	0	0	1	0	0	0	455	1493	52	5	5382	5	AKAP6	14	33292355	Missense_Mutation	SNP	T	TCGA-DU-7306-01A-11D-2086-08		33292355	74057185	59	40929											
AHNAK2	113146	broad.mit.edu	37	chr14	105421945	105421945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacctctgtcttcagcGtcacctctgttgcctcctgg	3	13	7	18	1	5	0	2	0	3	0	7	0	7	0	6	1	2	1	6	1	0	2			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr14:105421945G>A	ENST00000333244.5	-	5	460	c.341C>T	c.(340-342)aCg>aTg	p.T114M		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	114	PDZ.					nucleus		p.T114M(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TGTCTTCAGCGTCACCTCTGT	0.602													A	105421945	G	A	105421945	3	1	402	1	0	0	0	0	1	0	0	0	415	1145	40	1	17058	1	AHNAK2	14	105421945	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	72129590	105421945	1927595	60	40930											
FBN1	2200	broad.mit.edu	37	chr15	48786433	48786433	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctttaattcttgagtacCctttaccacatatgggatct	9	17	5	10	0	2	1	0	1	2	0	3	2	3	2	3	1	2	1	3	1	4	9			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr15:48786433C>T	ENST00000316623.5	-	23	3151	c.2696G>A	c.(2695-2697)gGg>gAg	p.G899E		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	899	TB 4.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		TCTTGAGTACCCTTTACCACA	0.323													T	48786433	C	T	48786433	3	4	402	1	0	0	0	0	1	0	0	0	5751	623	22	2	6095	2	FBN1	15	48786433	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08		48786433	53744959	61	40931											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2576020	2576020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtgtctgcctcaagggatAaaactataaaaatgtgggaa	16	10	10	5	0	2	0	1	0	1	0	2	2	2	2	1	2	2	0	1	2	9	4			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:2576020A>G	ENST00000397195.5	+	7	1091	c.640A>G	c.(640-642)Aaa>Gaa	p.K214E	PAFAH1B1_ENST00000572915.2_3'UTR|PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.K43E	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	214	Interaction with dynein and dynactin.				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						CTCAAGGGATAAAACTATAAA	0.433													G	2576020	A	G	2576020	3	3	402	1	0	0	0	0	1	0	0	0	11460	363	13	3	662	3	PAFAH1B1	17	2576020	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		2576020	78619190	62	40932											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	402	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	5001518	7577538	73617672	63	40933											
DNAJC7	7266	broad.mit.edu	37	chr17	40133943	40133943	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctttttcttgggatcagaGaggatagtaaaggcctctcc	9	13	11	8	0	4	1	1	0	3	1	5	4	4	3	2	3	0	1	2	3	3	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:40133943G>A	ENST00000457167.4	-	12	1550	c.1314C>T	c.(1312-1314)ctC>ctT	p.L438L	DNAJC7_ENST00000316603.7_Silent_p.L382L|DNAJC7_ENST00000426588.3_Silent_p.L382L	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	438	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				TGGGATCAGAGAGGATAGTAA	0.502													A	40133943	G	A	40133943	2	1	402	1	0	0	0	0	0	0	0	1	4693	929	33	2		2	DNAJC7	17	40133943	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08	32556405	40133943	41061267	64	40934											
TEX14	56155	broad.mit.edu	37	chr17	56700218	56700218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacccttacctgggtgctaCgctcctttcctgctgtcaaa	6	12	7	16	1	1	0	1	0	0	0	3	0	3	0	5	1	4	3	5	1	3	3	rs140312980		TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr17:56700218C>T	ENST00000389934.3	-	4	524	c.407G>A	c.(406-408)cGt>cAt	p.R136H	TEX14_ENST00000349033.5_Missense_Mutation_p.R136H|TEX14_ENST00000240361.8_Missense_Mutation_p.R136H	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	136						cytoplasm	ATP binding|protein kinase activity			breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTGGGTGCTACGCTCCTTTCC	0.567													T	56700218	C	T	56700218	3	4	402	1	0	0	0	0	1	0	0	0	15878	536	19	1	4188	1	TEX14	17	56700218	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	16566275	56700218	24494992	65	40935											
CETN1	1068	broad.mit.edu	37	chr18	580857	580857	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgatcgacgaagctgAtcgggatggggacggcgaag	11	5	19	6	5	0	3	0	2	0	1	2	9	0	5	0	5	1	1	0	5	2	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:580857A>C	ENST00000327228.3	+	1	491	c.449A>C	c.(448-450)gAt>gCt	p.D150A		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	150	EF-hand 4.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GACGAAGCTGATCGGGATGGG	0.542													C	580857	A	C	580857	3	2	402	1	0	0	0	0	1	0	0	0	3304	333	12	5	451	5	CETN1	18	580857	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		580857	77496391	66	40936											
KIAA1328	57536	broad.mit.edu	37	chr18	34414311	34414311	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaacaatcagtagtataCgttccaggtatgattttcta	14	13	8	6	1	2	2	1	1	1	1	3	3	3	2	1	1	2	4	1	1	8	8			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr18:34414311C>T	ENST00000591619.1	+	2	861	c.75C>T	c.(73-75)taC>taT	p.Y25Y	KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000543923.1_5'UTR|KIAA1328_ENST00000592521.1_Silent_p.Y29Y|KIAA1328_ENST00000280020.5_Silent_p.Y29Y			Q86T90	K1328_HUMAN	KIAA1328	29										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		CAGTAGTATACGTTCCAGGTA	0.338													T	34414311	C	T	34414311	2	4	402	1	0	0	0	0	0	0	0	1	8283	547	19	1		1	KIAA1328	18	34414311	Silent	SNP	C	TCGA-DU-7306-01A-11D-2086-08	33833454	34414311	43662937	67	40937											
DAPK3	1613	broad.mit.edu	37	chr19	3964267	3964267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactccggggtgccgaagatGttcttgaactcgttccccgc	7	10	11	13	4	1	2	0	1	1	1	4	3	3	2	4	2	3	2	4	2	3	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:3964267G>C	ENST00000545797.2	-	4	771	c.528C>G	c.(526-528)aaC>aaG	p.N176K	DAPK3_ENST00000301264.3_Missense_Mutation_p.N176K			O43293	DAPK3_HUMAN	death-associated protein kinase 3	176	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCGAAGATGTTCTTGAACT	0.627													C	3964267	G	C	3964267	3	2	402	1	0	0	0	0	1	0	0	0	4271	1368	48	4	860	4	DAPK3	19	3964267	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08		3964267	55164716	68	40938											
OR2Z1	284383	broad.mit.edu	37	chr19	8841995	8841995	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatggcgctgtccacctCaggggtgctgatcctaatgc	7	9	13	12	2	1	2	1	1	0	1	3	3	3	2	3	3	2	2	3	3	1	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:8841995C>A	ENST00000324060.2	+	1	680	c.605C>A	c.(604-606)tCa>tAa	p.S202*		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CTGTCCACCTCAGGGGTGCTG	0.577											OREG0007662	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=OR2Z1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	A	8841995	C	A	8841995	4	1	402	1	0	0	0	0	0	1	0	0	11112	838	29	4	607	4	OR2Z1	19	8841995	Nonsense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	4877728	8841995	50286988	69	40939											
ZNF492	57615	broad.mit.edu	37	chr19	22847842	22847842	+	Frame_Shift_Del	DEL	T	T	-																															tatgaagaatgtggcaaagcTtttaaccagtcctcacacct																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:22847842delT	ENST00000456783.2	+	4	1615	c.1371delT	c.(1369-1371)gctfs	p.A457fs		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	457					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				GTGGCAAAGCTTTTAACCAGT	0.388													-	22847842	T	-	22847842	7	5	402	1	0	1	0	1	0	0	0	0	18044	1596	56	0	1381	0	ZNF492	19	22847842	Frame_Shift_Del	DEL	T	TCGA-DU-7306-01A-11D-2086-08	14005847	22847842	36281141	70	40940											
PHLDB3	653583	broad.mit.edu	37	chr19	43999703	43999703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaacccccggctctcggCtgccatctgctcccccagtg	4	8	9	20	2	3	0	1	0	2	0	5	0	4	0	5	2	3	4	5	2	1	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:43999703C>T	ENST00000292140.5	-	7	1255	c.895G>A	c.(895-897)Gcc>Acc	p.A299T		NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	299										breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CGGCTCTCGGCTGCCATCTGC	0.642													T	43999703	C	T	43999703	3	4	402	1	0	0	0	0	1	0	0	0	11930	797	28	2	1067	2	PHLDB3	19	43999703	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	21151861	43999703	15129280	71	40941											
RELB	5971	broad.mit.edu	37	chr19	45540972	45540972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgccagccttgtgggcaGcaacatgttccccaatcatt	9	9	8	15	1	1	0	1	0	0	0	2	0	2	0	5	1	3	3	5	1	2	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:45540972G>A	ENST00000221452.8	+	12	1814	c.1664G>A	c.(1663-1665)aGc>aAc	p.S555N	RELB_ENST00000505236.1_Missense_Mutation_p.S552N|RELB_ENST00000540120.1_Missense_Mutation_p.S555N	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	555						nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		CTTGTGGGCAGCAACATGTTC	0.701													A	45540972	G	A	45540972	3	1	402	1	0	0	0	0	1	0	0	0	13305	971	34	2	1702	2	RELB	19	45540972	Missense_Mutation	SNP	G	TCGA-DU-7306-01A-11D-2086-08	1541269	45540972	13588011	72	40942											
CRX	1406	broad.mit.edu	37	chr19	48342788	48342788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcaggctccccaaccaCggcagtggccactgtgtcca	7	6	9	19	1	1	0	1	0	0	0	3	0	3	0	7	3	1	2	7	3	1	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48342788C>T	ENST00000221996.7	+	4	670	c.464C>T	c.(463-465)aCg>aTg	p.T155M	CRX_ENST00000539067.1_Missense_Mutation_p.T155M|TPRX2P_ENST00000535362.1_Intron	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	155					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		TCCCCAACCACGGCAGTGGCC	0.667													T	48342788	C	T	48342788	3	4	402	1	0	0	0	0	1	0	0	0	3933	536	19	1	474	1	CRX	19	48342788	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	2801816	48342788	10786195	73	40943											
GRWD1	83743	broad.mit.edu	37	chr19	48953672	48953672	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggtggtggaggagcccCaggccctggcagccttcctc	5	7	15	14	0	0	0	0	0	0	0	2	2	1	2	5	6	3	2	5	6	0	1			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:48953672C>G	ENST00000253237.5	+	4	804	c.571C>G	c.(571-573)Cag>Gag	p.Q191E		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	191						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGGAGCCCCAGGCCCTGGC	0.647													G	48953672	C	G	48953672	3	3	402	1	0	0	0	0	1	0	0	0	6866	595	21	4	585	4	GRWD1	19	48953672	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	610884	48953672	10175311	74	40944											
NLRP13	126204	broad.mit.edu	37	chr19	56423195	56423195	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcgtcctccaaaatattaAggtcaacttcaaagatacga	15	11	5	10	2	2	1	2	0	0	1	5	2	4	1	2	1	2	0	2	1	7	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr19:56423195A>T	ENST00000588751.1	-	5	2012	c.1988T>A	c.(1987-1989)cTt>cAt	p.L663H	NLRP13_ENST00000342929.3_Missense_Mutation_p.L663H			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	663							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CAAAATATTAAGGTCAACTTC	0.403													T	56423195	A	T	56423195	3	4	402	1	0	0	0	0	1	0	0	0	10551	72	3	5	1169	5	NLRP13	19	56423195	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08	7469523	56423195	2705788	75	40945											
ZFP64	55734	broad.mit.edu	37	chr20	50701276	50701276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccctgacgaaggaggcGccgcaggtctcacagcggaa	10	5	13	13	4	2	1	2	1	1	0	4	4	3	3	2	4	1	1	2	4	2	0			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chr20:50701276G>A	ENST00000361387.2	-	9	1818	c.1758C>T	c.(1756-1758)ggC>ggT	p.G586G	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.G367G	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	431					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CGAAGGAGGCGCCGCAGGTCT	0.597													A	50701276	G	A	50701276	2	1	402	1	0	0	0	0	0	0	0	1	17753	1074	38	1		1	ZFP64	20	50701276	Silent	SNP	G	TCGA-DU-7306-01A-11D-2086-08		50701276	12324244	76	40946											
CSF2RA	1438	broad.mit.edu	37	chrX	1404769	1404769	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaacacaaccttcagcAagtgtttcttaactgacaag	17	9	6	9	0	2	2	1	1	1	1	2	2	2	2	1	0	4	2	1	0	7	3			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:1404769A>G	ENST00000381524.3	+	4	361	c.175A>G	c.(175-177)Aag>Gag	p.K59E	CSF2RA_ENST00000355432.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000501036.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.K59E|CSF2RA_ENST00000355805.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381529.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000361536.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000494969.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000432318.2_Missense_Mutation_p.K59E|CSF2RA_ENST00000381509.3_Missense_Mutation_p.K59E|CSF2RA_ENST00000417535.2_Missense_Mutation_p.K59E			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	59						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	AACCTTCAGCAAGTGTTTCTT	0.473													G	1404769	A	G	1404769	3	3	402	1	0	0	0	0	1	0	0	0	3967	131	5	3	181	3	CSF2RA	23	1404769	Missense_Mutation	SNP	A	TCGA-DU-7306-01A-11D-2086-08		1404769	153865791	77	40947											
EIF1AX	1964	broad.mit.edu	37	chrX	20156719	20156719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattctcattcttacccctgCgtctgtttttacctccttta	5	19	3	14	1	3	0	1	0	3	0	5	0	4	0	4	0	3	1	4	0	3	8			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:20156719C>T	ENST00000379607.5	-	2	241	c.38G>A	c.(37-39)cGc>cAc	p.R13H	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	13						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTTACCCCTGCGTCTGTTTTT	0.303													T	20156719	C	T	20156719	3	4	402	1	0	0	0	0	1	0	0	0	5031	768	27	1	420	1	EIF1AX	23	20156719	Missense_Mutation	SNP	C	TCGA-DU-7306-01A-11D-2086-08	18751950	20156719	135113841	78	40948											
CXorf58	254158	broad.mit.edu	37	chrX	23956785	23956785	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaaatgagaaaagtttatTtggctaaagaaaaaaatact	23	10	6	2	0	0	2	0	1	0	2	0	3	0	2	0	1	1	2	0	1	12	5			TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:23956785T>C	ENST00000379211.3	+	8	1456	c.907T>C	c.(907-909)Ttg>Ctg	p.L303L		NM_001169574.1|NM_152761.2	NP_001163045.1|NP_689974.2	Q96LI9	CX058_HUMAN	chromosome X open reading frame 58	303										breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|prostate(1)	14						AAAAGTTTATTTGGCTAAAGA	0.338													C	23956785	T	C	23956785	2	2	402	1	0	0	0	0	0	0	0	1	4147	1838	64	3		3	CXorf58	23	23956785	Silent	SNP	T	TCGA-DU-7306-01A-11D-2086-08	3800066	23956785	131313775	79	40949											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-DU-7306-01A-11D-2086-08	TCGA-DU-7306-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f3374f4-6c85-43bf-afc0-c47bac9c4a06	539633c8-53a7-4ac0-9d0d-3e8cbd4db433	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814306	ATAA	-	76814303	7	5	402	1	0	1	0	1	0	0	0	0	1213	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DU-7306-01A-11D-2086-08	52857518	76814303	78456257	80	40950											
DNAJC11	55735	broad.mit.edu	37	chr1	6697392	6697392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtaccaggcattgacgaTgatgaggcctaaggacagac	12	6	12	11	2	0	4	0	3	0	1	0	6	0	5	3	3	1	2	3	3	2	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:6697392T>C	ENST00000377577.5	-	14	1513	c.1390A>G	c.(1390-1392)Atc>Gtc	p.I464V	DNAJC11_ENST00000377573.5_Missense_Mutation_p.I374V|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Missense_Mutation_p.I426V|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000294401.7_Missense_Mutation_p.I412V	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	464					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		GCATTGACGATGATGAGGCCT	0.572													C	6697392	T	C	6697392	3	2	403	1	0	0	0	0	1	0	0	0	4669	1464	51	3	301	3	DNAJC11	1	6697392	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08		6697392	242553229	1	40951											
OVGP1	5016	broad.mit.edu	37	chr1	111966210	111966210	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatgcatggggctgccTcttagtccaggatataagaa	10	10	12	9	1	2	1	1	0	1	1	3	2	3	2	2	4	2	2	2	4	4	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:111966210T>A	ENST00000369732.3	-	5	493	c.438A>T	c.(436-438)agA>agT	p.R146S	OVGP1_ENST00000540696.1_Missense_Mutation_p.R86S	NM_002557.3	NP_002548.3	Q12889	OVGP1_HUMAN	oviductal glycoprotein 1, 120kDa	146					chitin catabolic process|female pregnancy|single fertilization	transport vesicle	cation binding|chitinase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(3)|urinary_tract(1)	39		all_cancers(81;8.18e-06)|all_epithelial(167;5.64e-06)|all_lung(203;0.000152)|Lung NSC(277;0.000302)		Lung(183;0.0253)|Colorectal(144;0.033)|all cancers(265;0.0552)|Epithelial(280;0.0802)|COAD - Colon adenocarcinoma(174;0.123)|LUSC - Lung squamous cell carcinoma(189;0.14)		TGGGGCTGCCTCTTAGTCCAG	0.403													A	111966210	T	A	111966210	3	1	403	1	0	0	0	0	1	0	0	0	11401	1548	54	5	1626	5	OVGP1	1	111966210	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	105268818	111966210	137284411	2	40952											
PGLYRP4	57115	broad.mit.edu	37	chr1	153315567	153315567	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctgtgataactgttaccTttcttagtgccaaagaaggc	11	12	9	9	0	1	2	0	1	1	1	1	2	1	2	2	1	4	2	2	1	5	4			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:153315567T>C	ENST00000368739.3	-	5	817	c.459A>G	c.(457-459)aaA>aaG	p.K153K	PGLYRP4_ENST00000359650.5_Splice_Site_p.K157K			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	157					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACTGTTACCTTTCTTAGTGC	0.478													C	153315567	T	C	153315567	5	2	403	1	0	0	0	0	0	0	1	0	11873	1623	56	3	670	3	PGLYRP4	1	153315567	Splice_Site	SNP	T	TCGA-DU-7309-01A-11D-2086-08	41349357	153315567	95935054	3	40953											
PBXIP1	57326	broad.mit.edu	37	chr1	154924372	154924372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtccatcctggatgccGggcccagtgtctccactggc	4	9	13	15	1	1	0	0	0	1	0	4	1	3	1	5	4	1	0	5	4	0	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr1:154924372G>A	ENST00000368463.3	-	3	148	c.77C>T	c.(76-78)cCg>cTg	p.P26L	PBXIP1_ENST00000539880.1_Intron|PBXIP1_ENST00000542459.1_Intron|PBXIP1_ENST00000368465.1_5'UTR|PBXIP1_ENST00000368460.3_Missense_Mutation_p.P26L|PBXIP1_ENST00000498553.1_Intron	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	26					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTGGATGCCGGGCCCAGTGT	0.592													A	154924372	G	A	154924372	3	1	403	1	0	0	0	0	1	0	0	0	11572	1116	39	1	2154	1	PBXIP1	1	154924372	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	1608805	154924372	94326249	4	40954											
PPP1CB	5500	broad.mit.edu	37	chr2	29016792	29016792	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaccttattttcagccccaAattactgtggcgagtttgat	10	15	7	9	1	1	1	1	1	0	0	1	2	1	1	3	1	3	1	3	1	4	6			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:29016792A>T	ENST00000395366.2	+	7	1080	c.808A>T	c.(808-810)Aat>Tat	p.N270Y	SPDYA_ENST00000462832.1_3'UTR|PPP1CB_ENST00000296122.6_Missense_Mutation_p.N270Y|PPP1CB_ENST00000358506.2_Missense_Mutation_p.N270Y	NM_002709.2	NP_002700.1	P62140	PP1B_HUMAN	protein phosphatase 1, catalytic subunit, beta isozyme	270					cell cycle|cell division|glycogen metabolic process|triglyceride catabolic process	MLL5-L complex|nucleolus|PTW/PP1 phosphatase complex	metal ion binding|myosin phosphatase activity|myosin-light-chain-phosphatase activity|protein binding			cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TTCAGCCCCAAATTACTGTGG	0.348													T	29016792	A	T	29016792	3	4	403	1	0	0	0	0	1	0	0	0	12432	14	1	5	834	5	PPP1CB	2	29016792	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08		29016792	214182581	5	40955											
CEP68	23177	broad.mit.edu	37	chr2	65296819	65296819	+	Missense_Mutation	SNP	C	C	G																															gcccctctagagcccaccagCcacaggccagtgatgccaac																										TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296819C>G	ENST00000377990.2	+	2	444	c.241C>G	c.(241-243)Cca>Gca	p.P81A	CEP68_ENST00000260569.4_Missense_Mutation_p.P81A|CEP68_ENST00000546106.1_Missense_Mutation_p.P81A|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGCCCACCAGCCACAGGCCAG	0.632													G	65296819	C	G	65296819	3	3	403	1	0	0	0	0	1	0	0	0	3288	739	26	4	243	4	CEP68	2	65296819	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	36280027	65296819	177902554	6	40956	132	2									
CEP68	23177	broad.mit.edu	37	chr2	65296821	65296821	+	Silent	SNP	A	A	G																															ccctctagagcccaccagccAcaggccagtgatgccaacag																										TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:65296821A>G	ENST00000377990.2	+	2	446	c.243A>G	c.(241-243)ccA>ccG	p.P81P	CEP68_ENST00000260569.4_Silent_p.P81P|CEP68_ENST00000546106.1_Silent_p.P81P|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	81					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCCACCAGCCACAGGCCAGTG	0.632													G	65296821	A	G	65296821	2	3	403	1	0	0	0	0	0	0	0	1	3288	146	6	3		3	CEP68	2	65296821	Silent	SNP	A	TCGA-DU-7309-01A-11D-2086-08	2	65296821	177902552	7	40957	132	2									
ST6GAL2	84620	broad.mit.edu	37	chr2	107460056	107460056	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtagtcgtcatcctcCgggtagaaagcactttgaga	14	9	10	8	2	1	2	1	1	0	2	4	3	3	2	2	1	1	3	2	1	5	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:107460056C>T	ENST00000409382.3	-	2	988	c.378G>A	c.(376-378)ccG>ccA	p.P126P	ST6GAL2_ENST00000361686.4_Silent_p.P126P|ST6GAL2_ENST00000409087.3_Silent_p.P126P	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	126					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						CGTCATCCTCCGGGTAGAAAG	0.552													T	107460056	C	T	107460056	2	4	403	1	0	0	0	0	0	0	0	1	15318	639	23	1		1	ST6GAL2	2	107460056	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	42163235	107460056	135739317	8	40958											
CXCR2	3579	broad.mit.edu	37	chr2	218999633	218999633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttttctactagatgccGccccatgtgaaccagaatcc	9	10	6	16	1	1	3	0	1	1	2	2	3	2	3	7	0	3	0	7	0	4	4	rs75759064	by1000genomes	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr2:218999633G>A	ENST00000318507.2	+	3	536	c.109G>A	c.(109-111)Gcc>Acc	p.A37T		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						ACTAGATGCCGCCCCATGTGA	0.448													A	218999633	G	A	218999633	3	1	403	1	0	0	0	0	1	0	0	0	4124	1087	38	1	111	1	CXCR2	2	218999633	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	111539577	218999633	24199740	9	40959											
UGT2B11	10720	broad.mit.edu	37	chr4	70080096	70080096	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgtcatataattcccacagGatttcttgttcttgtgaaaa	12	16	6	7	0	3	1	1	1	2	0	4	2	4	2	1	1	0	1	1	1	4	7			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:70080096G>A	ENST00000446444.1	-	1	353	c.345C>T	c.(343-345)atC>atT	p.I115I	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	115					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTCCCACAGGATTTCTTGTT	0.299													A	70080096	G	A	70080096	2	1	403	1	0	0	0	0	0	0	0	1	17059	1164	41	2		2	UGT2B11	4	70080096	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		70080096	121074180	10	40960											
MTTP	4547	broad.mit.edu	37	chr4	100532549	100532549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctactcgggttctggcattcTaaggagaagtaacctgaaca	12	10	10	9	1	2	2	0	1	2	1	3	3	2	2	1	3	3	3	1	3	5	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr4:100532549T>C	ENST00000457717.1	+	15	2184	c.1928T>C	c.(1927-1929)cTa>cCa	p.L643P	MTTP_ENST00000265517.5_Missense_Mutation_p.L643P|MTTP_ENST00000511045.1_Missense_Mutation_p.L670P|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	643	Vitellogenin.				lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	TCTGGCATTCTAAGGAGAAGT	0.433													C	100532549	T	C	100532549	3	2	403	1	0	0	0	0	1	0	0	0	10040	1522	53	3	1982	3	MTTP	4	100532549	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	30452453	100532549	90621727	11	40961											
SEMA6A	57556	broad.mit.edu	37	chr5	115803413	115803413	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagccgtcgaatctgatgtgGttgtgctgggcaagagggaa	9	9	17	6	2	1	2	0	1	1	1	2	5	1	3	1	3	2	3	1	3	3	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:115803413G>C	ENST00000343348.6	-	18	2547	c.1760C>G	c.(1759-1761)aCc>aGc	p.T587S	SEMA6A_ENST00000510263.1_Missense_Mutation_p.T587S|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000257414.8_Missense_Mutation_p.T604S|SEMA6A_ENST00000282394.6_Intron|CTB-118N6.3_ENST00000508424.1_RNA|SEMA6A_ENST00000513137.1_Missense_Mutation_p.T14S|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	587					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		ATCTGATGTGGTTGTGCTGGG	0.522													C	115803413	G	C	115803413	3	2	403	1	0	0	0	0	1	0	0	0	14132	1261	44	4	1340	4	SEMA6A	5	115803413	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		115803413	65111847	12	40962											
GABRA6	2559	broad.mit.edu	37	chr5	161128598	161128598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caataaagtgctcacgagagCgcccatcttacaatcaacac	15	7	6	13	2	3	1	2	0	1	1	3	2	3	1	1	0	4	1	1	0	6	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr5:161128598C>T	ENST00000523217.1	+	9	1393	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	GABRA6_ENST00000274545.5_Missense_Mutation_p.A394V	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	394					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCACGAGAGCGCCCATCTTA	0.473										TCGA Ovarian(5;0.080)			T	161128598	C	T	161128598	3	4	403	1	0	0	0	0	1	0	0	0	6217	768	27	1	1215	1	GABRA6	5	161128598	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	45325185	161128598	19786662	13	40963											
ZNF318	24149	broad.mit.edu	37	chr6	43310590	43310590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcttggggctcttagtacGaaacttctcattgtttactt	8	16	9	8	1	2	0	1	0	2	0	3	1	2	0	0	3	3	4	0	3	4	8	rs147313268	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:43310590G>A	ENST00000361428.2	-	7	3177	c.3100C>T	c.(3100-3102)Cgt>Tgt	p.R1034C	ZNF318_ENST00000318149.3_Missense_Mutation_p.R1034C	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	1034				RT -> CI (in Ref. 1; AAD47387/AAD17298).	meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CTCTTAGTACGAAACTTCTCA	0.433													A	43310590	G	A	43310590	3	1	403	1	0	0	0	0	1	0	0	0	17937	1058	37	1	3755	1	ZNF318	6	43310590	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		43310590	127804477	14	40964											
DOPEY1	23033	broad.mit.edu	37	chr6	83863326	83863326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattatgttgtgccctacCtcagaaatcacaggtactat	11	13	7	10	0	2	1	2	0	0	1	2	1	2	1	2	1	4	3	2	1	5	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:83863326C>G	ENST00000349129.2	+	31	6486	c.6226C>G	c.(6226-6228)Ctc>Gtc	p.L2076V	DOPEY1_ENST00000484282.1_3'UTR|DOPEY1_ENST00000369739.3_Missense_Mutation_p.L2067V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.L2006V	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	2076					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGTGCCCTACCTCAGAAATCA	0.313													G	83863326	C	G	83863326	3	3	403	1	0	0	0	0	1	0	0	0	4746	681	24	4	6340	4	DOPEY1	6	83863326	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	40552736	83863326	87251741	15	40965											
AIM1	202	broad.mit.edu	37	chr6	106992514	106992514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaaggagaatacagggActggaaagcctggggaggtt	15	5	17	4	0	0	3	0	0	0	3	0	7	0	6	1	6	2	1	1	6	5	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:106992514A>G	ENST00000369066.3	+	10	4371	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	AIM1_ENST00000487681.1_3'UTR|AIM1_ENST00000535438.1_Missense_Mutation_p.D114G	NM_001624.2	NP_001615	Q9Y4K1	AIM1_HUMAN	absent in melanoma 1	1295	Beta/gamma crystallin 'Greek key' 6.						sugar binding			breast(8)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(7)|large_intestine(13)|lung(20)|ovary(5)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	69	Breast(9;0.0138)|all_epithelial(6;0.169)	all_cancers(87;4.67e-25)|all_epithelial(87;5.46e-21)|Acute lymphoblastic leukemia(125;2.15e-07)|all_hematologic(75;5.28e-06)|Colorectal(196;3.46e-05)|all_lung(197;5.94e-05)|Lung NSC(302;7.26e-05)|Ovarian(999;0.00473)	Epithelial(6;0.00114)|all cancers(7;0.00726)|BRCA - Breast invasive adenocarcinoma(8;0.0114)|OV - Ovarian serous cystadenocarcinoma(5;0.0305)	all cancers(137;1.73e-50)|Epithelial(106;2.42e-48)|OV - Ovarian serous cystadenocarcinoma(136;1.51e-27)|BRCA - Breast invasive adenocarcinoma(108;0.00104)|GBM - Glioblastoma multiforme(226;0.00858)		GAATACAGGGACTGGAAAGCC	0.418													G	106992514	A	G	106992514	3	3	403	1	0	0	0	0	1	0	0	0	430	275	10	3	3922	3	AIM1	6	106992514	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	23129188	106992514	64122553	16	40966											
PCMT1	5110	broad.mit.edu	37	chr6	150111138	150111138	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagttgcatgaaggagctAaagctcttgatgtaggatct	12	12	11	6	0	3	2	1	2	2	0	3	4	3	4	0	2	3	5	0	2	4	4			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr6:150111138A>G	ENST00000464889.1	+	4	699	c.415A>G	c.(415-417)Aaa>Gaa	p.K139E	PCMT1_ENST00000367384.2_Missense_Mutation_p.K139E|PCMT1_ENST00000367378.1_Missense_Mutation_p.K139E|PCMT1_ENST00000367380.5_Missense_Mutation_p.K81E|PCMT1_ENST00000544496.1_Missense_Mutation_p.K46E					protein-L-isoaspartate (D-aspartate) O-methyltransferase											kidney(1)|large_intestine(2)|lung(4)|ovary(1)	8		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.221)	OV - Ovarian serous cystadenocarcinoma(155;5.63e-13)|GBM - Glioblastoma multiforme(68;0.207)		TGAAGGAGCTAAAGCTCTTGA	0.378													G	150111138	A	G	150111138	3	3	403	1	0	0	0	0	1	0	0	0	11661	363	13	3	429	3	PCMT1	6	150111138	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	43118624	150111138	21003929	17	40967											
C7orf10	79783	broad.mit.edu	37	chr7	40899974	40899974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccgcccccgctgctcGggcagcacacaacgcacatc	8	3	10	20	4	0	0	0	0	0	0	2	0	0	0	4	2	3	5	4	2	1	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:40899974G>A	ENST00000309930.5	+	15	1336	c.1312G>A	c.(1312-1314)Ggg>Agg	p.G438R	C7orf10_ENST00000464028.1_3'UTR|C7orf10_ENST00000401647.2_Missense_Mutation_p.G364R|C7orf10_ENST00000335693.4_Missense_Mutation_p.G412R	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	412							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						CCCGCTGCTCGGGCAGCACAC	0.567													A	40899974	G	A	40899974	3	1	403	1	0	0	0	0	1	0	0	0	2400	1116	39	1	1259	1	C7orf10	7	40899974	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		40899974	118238689	18	40968											
MUC17	140453	broad.mit.edu	37	chr7	100696423	100696423	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttccgctccaagagagaggtGaaacggtgagcgagccccta	11	6	13	11	3	0	4	0	2	0	2	2	6	2	4	4	2	3	1	4	2	3	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:100696423G>C	ENST00000306151.4	+	10	13324	c.13260G>C	c.(13258-13260)gtG>gtC	p.V4420V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	4420						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)					AGAGAGAGGTGAAACGGTGAG	0.567													C	100696423	G	C	100696423	2	2	403	1	0	0	0	0	0	0	0	1	10050	1277	45	4		4	MUC17	7	100696423	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08	59796449	100696423	58442240	19	40969											
OR2A25	392138	broad.mit.edu	37	chr7	143771775	143771775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggattttaggagtcttattgGcccttgtccatctagtgtta	7	17	10	7	0	2	0	0	0	2	0	3	2	3	2	2	3	0	1	2	3	4	7			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr7:143771775G>A	ENST00000408898.2	+	1	501	c.463G>A	c.(463-465)Gcc>Acc	p.A155T		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					AGTCTTATTGGCCCTTGTCCA	0.458													A	143771775	G	A	143771775	3	1	403	1	0	0	0	0	1	0	0	0	11054	1203	42	2	465	2	OR2A25	7	143771775	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	43075352	143771775	15366888	20	40970											
MYOM2	9172	broad.mit.edu	37	chr8	2040226	2040226	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgaaacaccaagacgtcGgtggtggtgcagtgggaccg	9	6	15	11	4	0	1	0	0	0	1	2	3	1	2	3	4	2	1	3	4	2	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:2040226G>A	ENST00000262113.4	+	16	2022	c.1881G>A	c.(1879-1881)tcG>tcA	p.S627S	MYOM2_ENST00000523438.1_Silent_p.S52S	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	627	Fibronectin type-III 3.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CCAAGACGTCGGTGGTGGTGC	0.577													A	2040226	G	A	2040226	2	1	403	1	0	0	0	0	0	0	0	1	10168	1103	39	1		1	MYOM2	8	2040226	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		2040226	144323796	21	40971											
LACTB2	51110	broad.mit.edu	37	chr8	71581352	71581352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacgcgctgcagtacagcagCcattcccgcctcagccgccc	7	5	10	19	4	1	0	1	0	0	0	2	1	2	0	5	0	5	4	5	0	1	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr8:71581352C>G	ENST00000276590.4	-	1	40	c.4G>C	c.(4-6)Gct>Cct	p.A2P	LACTB2_ENST00000522447.1_Missense_Mutation_p.A2P	NM_016027.2	NP_057111.1	Q53H82	LACB2_HUMAN	lactamase, beta 2	2							hydrolase activity|metal ion binding			endometrium(2)|large_intestine(1)|liver(1)|lung(4)|ovary(1)|prostate(1)	10	Breast(64;0.0716)		Epithelial(68;0.00319)|all cancers(69;0.0175)|OV - Ovarian serous cystadenocarcinoma(28;0.0628)|BRCA - Breast invasive adenocarcinoma(89;0.166)			AGTACAGCAGCCATTCCCGCC	0.642											OREG0018822	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	71581352	C	G	71581352	3	3	403	1	0	0	0	0	1	0	0	0	8657	739	26	4	890	4	LACTB2	8	71581352	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	69541126	71581352	74782670	22	40972											
NDST2	8509	broad.mit.edu	37	chr10	75565368	75565368	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaaagggggcttcgctcctGagggaaaagttcaaagtact	12	8	12	9	1	1	1	1	1	0	0	3	2	2	2	2	3	1	4	2	3	5	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:75565368G>C	ENST00000603027.1	-	8	2346	c.1723C>G	c.(1723-1725)Cag>Gag	p.Q575E	NDST2_ENST00000299641.4_Missense_Mutation_p.Q452E|NDST2_ENST00000309979.6_Missense_Mutation_p.Q575E						575								p.Q575E(1)									CTTCGCTCCTGAGGGAAAAGT	0.512													C	75565368	G	C	75565368	3	2	403	1	0	0	0	0	1	0	0	0	10332	1299	45	4	960	4	NDST2	10	75565368	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		75565368	59969379	23	40973											
IFIT5	24138	broad.mit.edu	37	chr10	91178137	91178137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcaccgtaaatcagaaaAtactgccatccatcattatt	15	13	3	10	1	3	1	3	0	0	1	4	1	4	1	3	0	2	1	3	0	6	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:91178137A>G	ENST00000371795.4	+	2	1394	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	IFIT5_ENST00000416601.1_Missense_Mutation_p.N346S	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	394							binding			endometrium(1)|large_intestine(4)|lung(4)	9						AAATCAGAAAATACTGCCATC	0.423													G	91178137	A	G	91178137	3	3	403	1	0	0	0	0	1	0	0	0	7583	101	4	3	1187	3	IFIT5	10	91178137	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	15612769	91178137	44356610	24	40974											
SCD	6319	broad.mit.edu	37	chr10	102112184	102112184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagctcatcgtctgtggagCcaccgctcttacaaagctcg	8	9	11	13	3	3	0	1	0	2	0	5	2	3	2	2	2	4	3	2	2	2	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:102112184C>T	ENST00000370355.2	+	3	753	c.372C>T	c.(370-372)agC>agT	p.S124S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	124					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GTCTGTGGAGCCACCGCTCTT	0.522													T	102112184	C	T	102112184	2	4	403	1	0	0	0	0	0	0	0	1	13978	738	26	2		2	SCD	10	102112184	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	10934047	102112184	33422563	25	40975											
ABLIM1	3983	broad.mit.edu	37	chr10	116207683	116207683	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggccagtggtccgtctcaAtctttggtgtctcgctgggg	4	12	14	11	2	3	0	1	0	3	0	6	0	4	0	2	5	0	1	2	5	1	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr10:116207683A>G	ENST00000533213.2	-	15	1812	c.1511T>C	c.(1510-1512)aTt>aCt	p.I504T	ABLIM1_ENST00000392952.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000277895.5_Missense_Mutation_p.I564T|ABLIM1_ENST00000369266.3_Missense_Mutation_p.I241T|ABLIM1_ENST00000369253.2_Missense_Mutation_p.I187T|ABLIM1_ENST00000369252.4_Missense_Mutation_p.I504T			O14639	ABLM1_HUMAN	actin binding LIM protein 1	564					axon guidance|cytoskeleton organization|organ morphogenesis|visual perception	actin cytoskeleton|cytoplasm	actin binding|zinc ion binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	30		Colorectal(252;0.0373)|Breast(234;0.231)		Epithelial(162;0.0132)|all cancers(201;0.0383)		GTCCGTCTCAATCTTTGGTGT	0.547													G	116207683	A	G	116207683	3	3	403	1	0	0	0	0	1	0	0	0	94	101	4	3	677	3	ABLIM1	10	116207683	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08	14095499	116207683	19327064	26	40976											
SLC39A13	91252	broad.mit.edu	37	chr11	47434972	47434972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccaacaaagaccccactGctgctgccgccgcgctcaat	9	5	7	20	3	1	1	1	0	0	1	1	1	1	1	6	0	4	3	6	0	3	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr11:47434972G>A	ENST00000524928.1	+	4	569	c.559G>A	c.(559-561)Gct>Act	p.A187T	SLC39A13_ENST00000533076.1_Missense_Mutation_p.A187T|SLC39A13_ENST00000354884.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000362021.4_Missense_Mutation_p.A187T|SLC39A13_ENST00000529740.1_3'UTR			Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	187	Poly-Ala.				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AGACCCCACTGCTGCTGCCGC	0.657													A	47434972	G	A	47434972	3	1	403	1	0	0	0	0	1	0	0	0	14710	1319	46	2	573	2	SLC39A13	11	47434972	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		47434972	87571544	27	40977											
ERC1	23085	broad.mit.edu	37	chr12	1219448	1219448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggtgctttgagtactgagGaaagggaagaagaaatgaag	16	8	15	2	0	0	5	0	3	0	2	0	7	0	7	0	3	2	2	0	3	6	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:1219448G>A	ENST00000397203.2	+	5	1658	c.1252G>A	c.(1252-1254)Gaa>Aaa	p.E418K	ERC1_ENST00000543086.3_Missense_Mutation_p.E418K|ERC1_ENST00000355446.5_Missense_Mutation_p.E418K|ERC1_ENST00000360905.4_Missense_Mutation_p.E418K|ERC1_ENST00000536573.2_3'UTR|ERC1_ENST00000589028.1_Missense_Mutation_p.E418K|ERC1_ENST00000546231.2_Missense_Mutation_p.E418K			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	418					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			GAGTACTGAGGAAAGGGAAGA	0.388													A	1219448	G	A	1219448	3	1	403	1	0	0	0	0	1	0	0	0	5251	1175	41	2	1266	2	ERC1	12	1219448	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		1219448	132632447	28	40978											
PLCZ1	89869	broad.mit.edu	37	chr12	18854628	18854628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattcctccaccttaccaCgcttatcagaaccttttctt	8	14	2	17	1	2	1	1	0	1	1	4	1	4	1	6	0	2	1	6	0	3	6			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:18854628C>T	ENST00000266505.7	-	8	1210	c.947G>A	c.(946-948)cGt>cAt	p.R316H	PLCZ1_ENST00000538330.1_Missense_Mutation_p.R57H|PLCZ1_ENST00000539875.1_Missense_Mutation_p.R123H|PLCZ1_ENST00000447925.2_Missense_Mutation_p.R314H|PLCZ1_ENST00000542762.1_5'UTR|PLCZ1_ENST00000541695.1_Missense_Mutation_p.R179H|PLCZ1_ENST00000435379.1_Missense_Mutation_p.R121H			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	316					intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					CACCTTACCACGCTTATCAGA	0.413													T	18854628	C	T	18854628	3	4	403	1	0	0	0	0	1	0	0	0	12121	536	19	1	911	1	PLCZ1	12	18854628	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	17635180	18854628	114997267	29	40979											
TFCP2	7024	broad.mit.edu	37	chr12	51497961	51497961	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgactggagggggtggctCtggctggtggtttggtgaac	4	12	20	5	0	1	2	0	2	1	0	1	3	1	3	0	8	1	3	0	8	1	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:51497961C>G	ENST00000307660.4	-	8	1510	c.790G>C	c.(790-792)Gag>Cag	p.E264Q	TFCP2_ENST00000257915.5_Missense_Mutation_p.E315Q|TFCP2_ENST00000548115.1_Missense_Mutation_p.E264Q|TFCP2_ENST00000549867.1_Intron	NM_001173453.1	NP_001166924.1	Q12800	TFCP2_HUMAN	transcription factor CP2	315	DNA-binding.				regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	23						GGGGGTGGCTCTGGCTGGTGG	0.418													G	51497961	C	G	51497961	3	3	403	1	0	0	0	0	1	0	0	0	15895	922	32	4	593	4	TFCP2	12	51497961	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	32643333	51497961	82353934	30	40980											
KRT84	3890	broad.mit.edu	37	chr12	52779179	52779179	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcctacagctgctatcCggggtgagtacgatccaaag	11	7	13	10	2	0	2	0	1	0	1	2	4	2	2	3	2	5	3	3	2	4	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52779179C>A	ENST00000257951.3	-	1	257	c.191G>T	c.(190-192)cGg>cTg	p.R64L	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	64	Head.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCTGCTATCCGGGGTGAGTA	0.597													A	52779179	C	A	52779179	3	1	403	1	0	0	0	0	1	0	0	0	8556	652	23	4	1647	4	KRT84	12	52779179	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	1281218	52779179	81072716	31	40981											
KRT6C	286887	broad.mit.edu	37	chr12	52863046	52863046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccgacaccgctggcacCgccatagccactggagatgg	9	5	12	15	3	0	1	0	0	0	1	0	3	0	1	5	3	2	2	5	3	1	1	rs140943956	byFrequency	TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:52863046C>T	ENST00000252250.6	-	9	1542	c.1495G>A	c.(1495-1497)Ggt>Agt	p.G499S		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	499	Tail.				cytoskeleton organization	keratin filament	structural molecule activity	p.G499S(1)		cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CCGCTGGCACCGCCATAGCCA	0.612													T	52863046	C	T	52863046	3	4	403	1	0	0	0	0	1	0	0	0	8540	652	23	1	203	1	KRT6C	12	52863046	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	83867	52863046	80988849	32	40982											
PA2G4	5036	broad.mit.edu	37	chr12	56501319	56501319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaggggacccaagtaacAgggaggaaagcagatgttat	15	6	13	7	0	0	1	0	0	0	1	0	4	0	4	1	4	3	3	1	4	5	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:56501319A>G	ENST00000303305.6	+	5	827	c.408A>G	c.(406-408)acA>acG	p.T136T	RP11-603J24.9_ENST00000548861.1_Silent_p.T117T|PA2G4_ENST00000552766.1_Silent_p.T136T|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	136					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CCCAAGTAACAGGGAGGAAAG	0.453													G	56501319	A	G	56501319	2	3	403	1	0	0	0	0	0	0	0	1	11437	175	7	3		3	PA2G4	12	56501319	Silent	SNP	A	TCGA-DU-7309-01A-11D-2086-08	3638273	56501319	77350576	33	40983											
MDM2	4193	broad.mit.edu	37	chr12	69229630	69229630	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgatgctggtgtaagtGaacattcaggtgattggttg	9	15	13	4	0	2	3	1	3	1	0	2	3	2	3	0	3	2	3	0	3	2	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr12:69229630G>C	ENST00000462284.1	+	9	1008	c.706G>C	c.(706-708)Gaa>Caa	p.E236Q	MDM2_ENST00000428863.2_Missense_Mutation_p.E35Q|MDM2_ENST00000356290.4_Missense_Mutation_p.E60Q|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.E35Q|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.E175Q|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.E60Q|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.E35Q|MDM2_ENST00000258148.7_Missense_Mutation_p.E181Q|MDM2_ENST00000350057.5_Missense_Mutation_p.E205Q|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Missense_Mutation_p.E30Q|MDM2_ENST00000517852.1_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	230	ARF-binding.|Interaction with MTBP (By similarity).				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TGGTGTAAGTGAACATTCAGG	0.363			A		"sarcoma, glioma, colorectal, other"								C	69229630	G	C	69229630	3	2	403	1	0	0	0	0	1	0	0	0	9488	1291	45	4	740	4	MDM2	12	69229630	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08	12728311	69229630	64622265	34	40984											
SLC7A8	23428	broad.mit.edu	37	chr14	23598869	23598869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctcaccttgatggggCgggggatatcaggcttcttc	5	14	12	10	1	4	1	2	1	2	0	6	2	4	2	1	5	0	1	1	5	1	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr14:23598869C>T	ENST00000316902.7	-	9	1978	c.1253G>A	c.(1252-1254)cGc>cAc	p.R418H	SLC7A8_ENST00000469263.1_Intron|SLC7A8_ENST00000422941.2_Missense_Mutation_p.R194H|SLC7A8_ENST00000529705.2_Missense_Mutation_p.R313H|SLC7A8_ENST00000453702.1_Missense_Mutation_p.R215H	NM_012244.3	NP_036376.2	Q9UHI5	LAT2_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 8	418					blood coagulation|cellular amino acid metabolic process|leukocyte migration|metal ion homeostasis|response to toxin	basolateral plasma membrane|cytoplasm|integral to plasma membrane	neutral amino acid transmembrane transporter activity|organic cation transmembrane transporter activity|peptide antigen binding|protein binding|toxin transporter activity			autonomic_ganglia(1)|endometrium(6)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|skin(1)	24	all_cancers(95;4.6e-05)			GBM - Glioblastoma multiforme(265;0.00809)	L-Alanine(DB00160)|L-Glutamine(DB00130)|L-Phenylalanine(DB00120)	CTTGATGGGGCGGGGGATATC	0.498													T	23598869	C	T	23598869	3	4	403	1	0	0	0	0	1	0	0	0	14798	768	27	1	366	1	SLC7A8	14	23598869	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		23598869	83750671	35	40985											
DISP2	85455	broad.mit.edu	37	chr15	40661464	40661464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccctgaccgcctgagcCgtgtggccttctctctgcgc	4	9	10	18	3	2	2	0	2	2	0	3	2	2	2	5	1	2	0	5	1	0	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:40661464C>T	ENST00000267889.3	+	8	3238	c.3151C>T	c.(3151-3153)Cgt>Tgt	p.R1051C	RP11-64K12.4_ENST00000558421.1_RNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1051					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CCGCCTGAGCCGTGTGGCCTT	0.632													T	40661464	C	T	40661464	3	4	403	1	0	0	0	0	1	0	0	0	4579	652	23	1	3181	1	DISP2	15	40661464	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		40661464	61869928	36	40986											
BNIP2	663	broad.mit.edu	37	chr15	59961125	59961125	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtatgccaacgtattccaTggggacaagttctgctagtt	9	13	11	8	1	1	0	0	0	1	0	2	1	2	1	2	3	3	5	2	3	5	6			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:59961125T>C	ENST00000267859.3	-	9	1315	c.1222A>G	c.(1222-1224)Atg>Gtg	p.M408V	BNIP2_ENST00000478981.1_5'UTR|AC092755.4_ENST00000441746.1_RNA|BNIP2_ENST00000415213.2_Missense_Mutation_p.M349V|BNIP2_ENST00000607373.1_Missense_Mutation_p.M287V			Q12982	BNIP2_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 2	287					anti-apoptosis|apoptosis|positive regulation of muscle cell differentiation	nuclear envelope|perinuclear region of cytoplasm	calcium ion binding|GTPase activator activity|protein binding			NS(1)|large_intestine(2)|lung(5)|ovary(1)	9						ACGTATTCCATGGGGACAAGT	0.308													C	59961125	T	C	59961125	3	2	403	1	0	0	0	0	1	0	0	0	1483	1464	51	3	93	3	BNIP2	15	59961125	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	19299661	59961125	42570267	37	40987											
TLN2	83660	broad.mit.edu	37	chr15	63127959	63127959	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatccctgccaatgcTgcagacgacggacagtggtc	8	7	12	14	2	0	1	0	0	0	1	3	3	2	2	3	3	3	3	3	3	1	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:63127959T>C	ENST00000561311.1	+	55	7382	c.7152T>C	c.(7150-7152)gcT>gcC	p.A2384A	TLN2_ENST00000306829.6_Silent_p.A2384A|RP11-1069G10.1_ENST00000558404.1_RNA			Q9Y4G6	TLN2_HUMAN	talin 2	2384	I/LWEQ.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CTGCCAATGCTGCAGACGACG	0.602													C	63127959	T	C	63127959	2	2	403	1	0	0	0	0	0	0	0	1	16048	1567	55	3		3	TLN2	15	63127959	Silent	SNP	T	TCGA-DU-7309-01A-11D-2086-08	3166834	63127959	39403433	38	40988											
IDH2	3418	broad.mit.edu	37	chr15	90631837	90631837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctggtcgccatgggcgtgCctgccaatggtgatgggctt	5	10	15	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr15:90631837C>A	ENST00000330062.3	-	4	629	c.516G>T	c.(514-516)agG>agT	p.R172S	IDH2_ENST00000540499.2_Missense_Mutation_p.R120S|IDH2_ENST00000539790.1_Missense_Mutation_p.R42S|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172S(17)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			CATGGGCGTGCCTGCCAATGG	0.637			M		GBM								A	90631837	C	A	90631837	3	1	403	1	0	0	0	0	1	0	0	0	7553	738	26	4	874	4	IDH2	15	90631837	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	27503878	90631837	11899555	39	40989											
ACSM1	116285	broad.mit.edu	37	chr16	20648161	20648161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccttgtcatcaatgAcctgtagcaagaggcctgtg	8	11	11	11	0	2	2	2	1	0	1	2	2	2	2	3	1	3	3	3	1	3	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20648161A>G	ENST00000219151.4	-	10	1362	c.152T>C	c.(151-153)gTc>gCc	p.V51A	ACSM1_ENST00000307493.4_Splice_Site_p.V400A|ACSM1_ENST00000520010.1_Splice_Site_p.V400A			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	400					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						GTCATCAATGACCTGTAGCAA	0.527													G	20648161	A	G	20648161	3	3	403	1	0	0	0	0	1	0	0	0	182	289	10	3	554	3	ACSM1	16	20648161	Missense_Mutation	SNP	A	TCGA-DU-7309-01A-11D-2086-08		20648161	69706592	40	40990											
DNAH3	55567	broad.mit.edu	37	chr16	20990739	20990739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctcttgctattcaggagCgtcttgaaggttagaatcaa	10	13	10	8	1	4	2	2	1	2	1	4	3	4	3	1	2	3	2	1	2	5	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:20990739C>T	ENST00000261383.3	-	50	7988	c.7989G>A	c.(7987-7989)acG>acA	p.T2663T	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2663	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TATTCAGGAGCGTCTTGAAGG	0.478													T	20990739	C	T	20990739	2	4	403	1	0	0	0	0	0	0	0	1	4642	755	27	1		1	DNAH3	16	20990739	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	342578	20990739	69364014	41	40991											
FAM57B	83723	broad.mit.edu	37	chr16	30037991	30037991	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagcaccatgaggaactccTtgtgcaggtagccacgcgct	9	7	13	12	2	0	1	0	1	0	0	1	3	1	3	3	3	4	4	3	3	2	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:30037991T>C	ENST00000380495.4	-	3	1114	c.383A>G	c.(382-384)aAg>aGg	p.K128R	FAM57B_ENST00000279389.4_Missense_Mutation_p.K78R|FAM57B_ENST00000564806.1_Missense_Mutation_p.K78R	NM_031478.4	NP_113666.2	Q71RH2	FA57B_HUMAN	family with sequence similarity 57, member B	128	TLC.					endoplasmic reticulum|integral to membrane				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(5)|upper_aerodigestive_tract(1)	14						GAGGAACTCCTTGTGCAGGTA	0.677													C	30037991	T	C	30037991	3	2	403	1	0	0	0	0	1	0	0	0	5639	1609	56	3	453	3	FAM57B	16	30037991	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08	9047252	30037991	60316762	42	40992											
GNAO1	2775	broad.mit.edu	37	chr16	56226231	56226231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctcaaagaggatggcatCagcgccgccaaagacgtgaa	15	4	11	11	3	2	3	2	1	0	2	2	4	2	4	3	2	2	1	3	2	4	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr16:56226231C>G	ENST00000262494.7	+	1	344	c.84C>G	c.(82-84)atC>atG	p.I28M	GNAO1_ENST00000569295.1_3'UTR|GNAO1_ENST00000262493.6_Missense_Mutation_p.I28M	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	28					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				AGGATGGCATCAGCGCCGCCA	0.637													G	56226231	C	G	56226231	3	3	403	1	0	0	0	0	1	0	0	0	6564	816	29	4	86	4	GNAO1	16	56226231	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	26188240	56226231	34128522	43	40993											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	403	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		7577538	73617672	44	40994											
ZACN	353174	broad.mit.edu	37	chr17	74076491	74076492	+	Frame_Shift_Del	DEL	CT	CT	-																															ctgcagcctcagcttctacgCtctcagcaacacgggtgctg																										TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr17:74076491_74076492delCT	ENST00000334586.5	+	5	613_614	c.530_531delCT	c.(529-531)gctfs	p.A177fs	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	177					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						AGCTTCTACGCTCTCAGCAACA	0.644													-	74076492	CT	-	74076491	7	5	403	1	0	1	0	1	0	0	0	0	17612	797	28	0	548	0	ZACN	17	74076491	Frame_Shift_Del	DEL	CT	TCGA-DU-7309-01A-11D-2086-08	66498953	74076491	7118719	45	40995											
EPB41L3	23136	broad.mit.edu	37	chr18	5397173	5397173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccaggacagctttagcgaCctcctcccctccttcctctt	5	13	5	18	1	1	0	0	0	1	0	6	2	6	1	7	1	2	1	7	1	1	5			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr18:5397173C>G	ENST00000341928.2	-	18	3065	c.2725G>C	c.(2725-2727)Gtc>Ctc	p.V909L	EPB41L3_ENST00000342933.3_Missense_Mutation_p.V909L|EPB41L3_ENST00000400111.3_Missense_Mutation_p.V687L|EPB41L3_ENST00000427684.2_Missense_Mutation_p.V206L|EPB41L3_ENST00000544123.1_Missense_Mutation_p.V740L|EPB41L3_ENST00000540638.2_Missense_Mutation_p.V687L|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Missense_Mutation_p.V214L	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	909	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GCTTTAGCGACCTCCTCCCCT	0.567													G	5397173	C	G	5397173	3	3	403	1	0	0	0	0	1	0	0	0	5195	507	18	4	558	4	EPB41L3	18	5397173	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		5397173	72680075	46	40996											
VAV1	7409	broad.mit.edu	37	chr19	6828446	6828446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagctggtgaaacacaCgcaggaggcgatggagaagg	13	4	17	7	2	1	2	1	1	0	1	1	6	1	4	0	6	2	2	0	6	2	0			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:6828446C>T	ENST00000304076.2	+	11	1134	c.1040C>T	c.(1039-1041)aCg>aTg	p.T347M	VAV1_ENST00000596764.1_Missense_Mutation_p.T315M|VAV1_ENST00000539284.1_Missense_Mutation_p.T250M|VAV1_ENST00000602142.1_Missense_Mutation_p.T347M|VAV1_ENST00000599806.1_Missense_Mutation_p.T292M	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	347	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity	p.T347M(1)		biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGAAACACACGCAGGAGGCG	0.622													T	6828446	C	T	6828446	3	4	403	1	0	0	0	0	1	0	0	0	17233	536	19	1	1082	1	VAV1	19	6828446	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		6828446	52300537	47	40997											
ICAM5	7087	broad.mit.edu	37	chr19	10402433	10402433	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggacctgcggccgcaCggactgggactgtttgaaaa	9	7	15	10	3	0	1	0	1	0	0	0	5	0	4	2	4	2	3	2	4	2	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:10402433C>T	ENST00000221980.4	+	3	684	c.621C>T	c.(619-621)caC>caT	p.H207H		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	207	Ig-like C2-type 2.				cell-cell adhesion	integral to plasma membrane				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			TGCGGCCGCACGGACTGGGAC	0.672													T	10402433	C	T	10402433	2	4	403	1	0	0	0	0	0	0	0	1	7541	535	19	1		1	ICAM5	19	10402433	Silent	SNP	C	TCGA-DU-7309-01A-11D-2086-08	3573987	10402433	48726550	48	40998											
CGB7	94027	broad.mit.edu	37	chr19	49557632	49557632	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggcctttgaggaagaGgaggcctggaagcgggggtc	8	5	22	6	1	0	2	0	1	0	1	1	6	0	6	2	9	1	0	2	9	2	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr19:49557632G>T	ENST00000356213.4	-	5	3285	c.408C>A	c.(406-408)tcC>tcA	p.S136S	CGB7_ENST00000377280.3_Silent_p.S138S|CGB7_ENST00000597853.1_Silent_p.S138S|CGB7_ENST00000596965.1_Silent_p.S138S					chorionic gonadotropin, beta polypeptide 7											lung(3)|urinary_tract(2)	5		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)		TTGAGGAAGAGGAGGCCTGGA	0.637													T	49557632	G	T	49557632	2	4	403	1	0	0	0	0	0	0	0	1	3330	987	35	4		4	CGB7	19	49557632	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08	39155199	49557632	9571351	49	40999											
PYGB	5834	broad.mit.edu	37	chr20	25261592	25261592	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttttggcaccagcacgtggCcgcgctgtttcccggcgatg	4	10	14	13	5	0	0	0	0	0	0	1	1	1	0	3	3	1	5	3	3	0	3			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr20:25261592C>G	ENST00000216962.4	+	11	1357	c.1247C>G	c.(1246-1248)gCc>gGc	p.A416G		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	416					glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31					Pyridoxal Phosphate(DB00114)	CAGCACGTGGCCGCGCTGTTT	0.647													G	25261592	C	G	25261592	3	3	403	1	0	0	0	0	1	0	0	0	12948	739	26	4	1289	4	PYGB	20	25261592	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08		25261592	37763928	50	41000											
UMODL1	89766	broad.mit.edu	37	chr21	43519274	43519274	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggccgacgtctccaccacGctgaccatcaaaaccagtaa	12	5	9	15	3	2	1	1	1	1	0	3	2	2	1	5	2	1	2	5	2	3	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr21:43519274G>A	ENST00000400424.2	+	7	1350	c.954G>A	c.(952-954)acG>acA	p.T318T	UMODL1_ENST00000408910.2_Silent_p.T390T|UMODL1_ENST00000400427.1_Silent_p.T318T|UMODL1_ENST00000408989.2_Silent_p.T390T	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 1.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCTCCACCACGCTGACCATCA	0.607													A	43519274	G	A	43519274	2	1	403	1	0	0	0	0	0	0	0	1	17082	1074	38	1		1	UMODL1	21	43519274	Silent	SNP	G	TCGA-DU-7309-01A-11D-2086-08		43519274	4610621	51	41001											
NF2	4771	broad.mit.edu	37	chr22	30077486	30077486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctcaatgaactcaagacaGaaatcgaggccttgaaactg	16	7	9	9	1	2	4	2	2	0	2	3	5	2	4	1	1	3	1	1	1	5	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chr22:30077486G>A	ENST00000338641.4	+	15	2074	c.1633G>A	c.(1633-1635)Gaa>Aaa	p.E545K	NF2_ENST00000334961.7_Missense_Mutation_p.E462K|NF2_ENST00000361676.4_Missense_Mutation_p.E503K|NF2_ENST00000353887.4_Missense_Mutation_p.E462K|NF2_ENST00000397789.3_Missense_Mutation_p.E545K|NF2_ENST00000347330.5_3'UTR|NF2_ENST00000361452.4_Missense_Mutation_p.E504K|NF2_ENST00000361166.4_Missense_Mutation_p.E545K|NF2_ENST00000403999.3_Missense_Mutation_p.E545K|NF2_ENST00000413209.2_Intron|NF2_ENST00000403435.1_Missense_Mutation_p.E516K	NM_000268.3|NM_016418.5|NM_181832.2	NP_000259.1|NP_057502.2|NP_861970.1	P35240	MERL_HUMAN	neurofibromin 2 (merlin)	545					actin cytoskeleton organization|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of cell-cell adhesion|negative regulation of cell-matrix adhesion|negative regulation of DNA replication|negative regulation of tyrosine phosphorylation of Stat3 protein|negative regulation of tyrosine phosphorylation of Stat5 protein|positive regulation of stress fiber assembly|regulation of hippo signaling cascade|Schwann cell proliferation	cytoskeleton|early endosome|extrinsic to membrane|filopodium membrane|nucleolus|perinuclear region of cytoplasm|ruffle membrane	cytoskeletal protein binding|protein binding	p.?(3)|p.K525fs*18(1)		NS(1)|bone(2)|breast(5)|central_nervous_system(21)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(17)|large_intestine(9)|liver(1)|lung(9)|meninges(372)|ovary(2)|pituitary(1)|pleura(9)|prostate(1)|skin(7)|soft_tissue(303)|stomach(2)|thyroid(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	776						ACTCAAGACAGAAATCGAGGC	0.498			"D, Mis, N, F, S, O"		"meningioma, acoustic neuroma, renal "	"meningioma, acoustic neuroma"			Neurofibromatosis, type 2				A	30077486	G	A	30077486	3	1	403	1	0	0	0	0	1	0	0	0	10433	943	33	2	1691	2	NF2	22	30077486	Missense_Mutation	SNP	G	TCGA-DU-7309-01A-11D-2086-08		30077486	21227080	52	41002											
AR	367	broad.mit.edu	37	chrX	66765383	66765383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccccgagagaggttgcgTcccagagcctggagccgccg	7	4	14	16	4	0	2	0	0	0	2	1	5	1	3	7	2	3	1	7	2	0	1			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:66765383T>C	ENST00000374690.3	+	1	919	c.395T>C	c.(394-396)gTc>gCc	p.V132A	AR_ENST00000504326.1_Missense_Mutation_p.V132A|AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Missense_Mutation_p.V132A	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	130	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AGAGGTTGCGTCCCAGAGCCT	0.677									Androgen Insensitivity Syndrome				C	66765383	T	C	66765383	3	2	403	1	0	0	0	0	1	0	0	0	839	1667	58	3	397	3	AR	23	66765383	Missense_Mutation	SNP	T	TCGA-DU-7309-01A-11D-2086-08		66765383	88505177	53	41003											
TEX11	56159	broad.mit.edu	37	chrX	70073157	70073157	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccagcatccaaccattCttttcctattctcatattca	10	17	1	13	0	3	0	2	0	2	0	7	0	6	0	4	0	2	1	4	0	3	8			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:70073157C>A	ENST00000395889.2	-	7	546	c.391G>T	c.(391-393)Gaa>Taa	p.E131*	TEX11_ENST00000374333.2_Nonsense_Mutation_p.E116*|TEX11_ENST00000344304.3_Nonsense_Mutation_p.E131*	NM_001003811.1	NP_001003811.1	Q8IYF3	TEX11_HUMAN	testis expressed 11	131							protein binding			breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(12)|lung(13)|ovary(3)|prostate(3)|skin(3)	48	Renal(35;0.156)					TCCAACCATTCTTTTCCTATT	0.343													A	70073157	C	A	70073157	4	1	403	1	0	0	0	0	0	1	0	0	15874	922	32	4	2531	4	TEX11	23	70073157	Nonsense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	3307774	70073157	85197403	54	41004											
ATRX	546	broad.mit.edu	37	chrX	76813014	76813014	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtataaagttcagtaagctCattcatagtaaaatgacgct	16	12	7	6	1	3	1	3	1	0	0	3	1	3	1	0	0	1	6	0	0	7	7			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:76813014C>A	ENST00000373344.5	-	30	6821	c.6607G>T	c.(6607-6609)Gag>Tag	p.E2203*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E2165*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2203	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)	TCAGTAAGCTCATTCATAGTA	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76813014	C	A	76813014	4	1	403	1	0	0	0	0	0	1	0	0	1213	835	29	4	895	4	ATRX	23	76813014	Nonsense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	6739857	76813014	78457546	55	41005											
MBNL3	55796	broad.mit.edu	37	chrX	131524902	131524902	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaggcagctgaatggttcatCtgatgatgagctgccttgag	9	11	14	7	0	2	5	1	5	1	0	2	6	2	5	1	2	3	4	1	2	1	2			TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:131524902C>G	ENST00000538204.1	-	4	659	c.594G>C	c.(592-594)caG>caC	p.Q198H	RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.Q152H|MBNL3_ENST00000370849.3_Missense_Mutation_p.Q198H|MBNL3_ENST00000473364.1_5'UTR|MBNL3_ENST00000370853.3_Missense_Mutation_p.Q248H|RAP2C-AS1_ENST00000441399.2_RNA|MBNL3_ENST00000370839.3_Missense_Mutation_p.Q248H|MBNL3_ENST00000394311.2_Missense_Mutation_p.Q152H|MBNL3_ENST00000370857.3_Missense_Mutation_p.Q248H	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	248					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					AATGGTTCATCTGATGATGAG	0.458													G	131524902	C	G	131524902	3	3	403	1	0	0	0	0	1	0	0	0	9430	912	32	4	401	4	MBNL3	23	131524902	Missense_Mutation	SNP	C	TCGA-DU-7309-01A-11D-2086-08	54711888	131524902	23745658	56	41006											
SRPK3	26576	broad.mit.edu	37	chrX	153046565	153046566	+	Frame_Shift_Ins	INS	-	-	A																															gcgccagcacgggcggtggtINSggggacagcggcggcagcgg																										TCGA-DU-7309-01A-11D-2086-08	TCGA-DU-7309-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b47b5427-1159-4b16-a9b5-814d4e7dcffa	1125ff76-1f9b-4396-a4bb-cff53b6dd447	g.chrX:153046565_153046566insA	ENST00000370101.3	+	1	70_71	c.24_25insA	c.(25-27)gggfs	p.G9fs	SRPK3_ENST00000489426.1_Intron|SRPK3_ENST00000370108.3_Frame_Shift_Ins_p.G9fs|SRPK3_ENST00000393786.3_Frame_Shift_Ins_p.G9fs|SRPK3_ENST00000370104.1_Frame_Shift_Ins_p.G9fs	NM_001170760.1|NM_014370.3	NP_001164231.1|NP_055185.2	Q9UPE1	SRPK3_HUMAN	SRSF protein kinase 3	9					cell differentiation|muscle organ development|muscle tissue development		ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(2)|lung(4)|ovary(2)|pancreas(2)|urinary_tract(1)	13	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CGggcggtggtggggacagcgg	0.748													A	153046566	-	A	153046565	7	5	403	1	0	1	1	0	0	0	0	0	15257	1683	59	0	26	0	SRPK3	23	153046565	Frame_Shift_Ins	INS	-	TCGA-DU-7309-01A-11D-2086-08	21521663	153046565	2223995	57	41007											
KIF1B	23095	broad.mit.edu	37	chr1	10386237	10386237	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcccccactttttccaCggccgattccgacatcactg	7	10	5	19	3	1	0	1	0	0	0	4	2	4	0	6	1	0	0	6	1	0	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:10386237C>T	ENST00000377086.1	+	27	2946	c.2744C>T	c.(2743-2745)aCg>aTg	p.T915M	KIF1B_ENST00000377081.1_Missense_Mutation_p.T915M|KIF1B_ENST00000263934.6_Missense_Mutation_p.T869M			O60333	KIF1B_HUMAN	kinesin family member 1B	915					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	p.T869M(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		ACTTTTTCCACGGCCGATTCC	0.572													T	10386237	C	T	10386237	3	4	404	1	0	0	0	0	1	0	0	0	8342	536	19	1	4189	1	KIF1B	1	10386237	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		10386237	238864384	1	41008											
ALDH4A1	8659	broad.mit.edu	37	chr1	19209803	19209803	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtacaccgtgctgttggtGctcgggggcacgctgatggg	4	9	18	10	4	0	1	0	1	0	0	1	1	0	1	1	5	3	6	1	5	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209803G>A	ENST00000375341.3	-	6	830	c.573C>T	c.(571-573)agC>agT	p.S191S	ALDH4A1_ENST00000538309.1_Silent_p.S131S|ALDH4A1_ENST00000290597.5_Silent_p.S191S|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Silent_p.S191S	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	191				PPS -> LPY (in Ref. 9; AA sequence).	proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCTGTTGGTGCTCGGGGGCA	0.647													A	19209803	G	A	19209803	2	1	404	1	0	0	0	0	0	0	0	1	501	1310	46	2		2	ALDH4A1	1	19209803	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08	8823566	19209803	230040818	2	41009			1	50		2	2	36	G		5.539834e-05
ALDH4A1	8659	broad.mit.edu	37	chr1	19209838	19209838	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgggctgctgcccctccaGctccaccgcatacttggcat	6	9	10	16	1	0	0	0	0	0	0	2	1	2	0	5	2	4	5	5	2	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:19209838G>C	ENST00000375341.3	-	6	795	c.538C>G	c.(538-540)Ctg>Gtg	p.L180V	ALDH4A1_ENST00000538309.1_Missense_Mutation_p.L120V|ALDH4A1_ENST00000290597.5_Missense_Mutation_p.L180V|RP13-279N23.2_ENST00000494072.3_3'UTR|ALDH4A1_ENST00000454547.1_5'UTR|ALDH4A1_ENST00000538839.1_Missense_Mutation_p.L180V	NM_003748.3	NP_003739.2	P30038	AL4A1_HUMAN	aldehyde dehydrogenase 4 family, member A1	180					proline biosynthetic process|proline catabolic process	mitochondrial matrix	1-pyrroline-5-carboxylate dehydrogenase activity|aldehyde dehydrogenase (NAD) activity|electron carrier activity			cervix(2)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00479)|BRCA - Breast invasive adenocarcinoma(304;3.67e-05)|Kidney(64;0.000182)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	NADH(DB00157)	TGCCCCTCCAGCTCCACCGCA	0.642													C	19209838	G	C	19209838	3	2	404	1	0	0	0	0	1	0	0	0	501	962	34	4	1193	4	ALDH4A1	1	19209838	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	35	19209838	230040783	3	41010			1	50		2	2	36	G		5.539834e-05
TMEM39B	55116	broad.mit.edu	37	chr1	32542835	32542835	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcgcttcaccgttctcaCggcaacaggctggagtctgt	7	10	10	14	3	3	0	2	0	2	0	5	1	3	1	1	3	1	4	1	3	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:32542835C>T	ENST00000427288.1	+	6	641	c.161C>T	c.(160-162)aCg>aTg	p.T54M	TMEM39B_ENST00000336294.5_Missense_Mutation_p.T169M|TMEM39B_ENST00000373634.4_Intron|TMEM39B_ENST00000487305.1_3'UTR|TMEM39B_ENST00000456834.2_Intron			Q9GZU3	TM39B_HUMAN	transmembrane protein 39B	169						integral to membrane				endometrium(2)|kidney(1)|lung(5)|ovary(1)|prostate(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.174)				ACCGTTCTCACGGCAACAGGC	0.592													T	32542835	C	T	32542835	3	4	404	1	0	0	0	0	1	0	0	0	16262	536	19	1	524	1	TMEM39B	1	32542835	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	13332997	32542835	216707786	4	41011											
EPHA10	284656	broad.mit.edu	37	chr1	38227461	38227461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgaagctctcgtccgccgCgatcgtgtcgattttgcggg	4	11	14	12	8	1	1	0	1	1	0	5	3	2	1	2	1	2	1	2	1	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:38227461C>T	ENST00000373048.4	-	3	465	c.466G>A	c.(466-468)Gcg>Acg	p.A156T	EPHA10_ENST00000427468.2_Missense_Mutation_p.A156T|EPHA10_ENST00000319637.6_Missense_Mutation_p.A156T	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	156						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				TCGTCCGCCGCGATCGTGTCG	0.657													T	38227461	C	T	38227461	3	4	404	1	0	0	0	0	1	0	0	0	5207	768	27	1	2658	1	EPHA10	1	38227461	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	5684626	38227461	211023160	5	41012											
BTBD8	284697	broad.mit.edu	37	chr1	92606709	92606709	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatatgtatggactagaaGgattaaaagaagtagcaatc	17	10	10	4	0	0	3	0	1	0	2	1	5	0	5	0	2	1	3	0	2	9	5			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:92606709G>T	ENST00000342818.3	+	7	1107	c.871G>T	c.(871-873)Gga>Tga	p.G291*	BTBD8_ENST00000540648.1_Intron	NM_183242.3	NP_899065.2	Q5XKL5	BTBD8_HUMAN	BTB (POZ) domain containing 8	291						nucleus				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)	16		all_lung(203;0.0484)|Lung NSC(277;0.126)|Glioma(108;0.222)		all cancers(265;0.0153)|Epithelial(280;0.0982)		TGGACTAGAAGGATTAAAAGA	0.299													T	92606709	G	T	92606709	4	4	404	1	0	0	0	0	0	1	0	0	1557	1001	35	4	897	4	BTBD8	1	92606709	Nonsense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	54379248	92606709	156643912	6	41013											
APOA1BP	128240	broad.mit.edu	37	chr1	156563279	156563279	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggcgatgttcgggaacCgttccacagcatcctgagtg	9	8	13	11	3	0	1	0	1	0	0	3	3	2	2	3	2	2	3	3	2	2	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr1:156563279C>A	ENST00000368235.3	+	5	639	c.596C>A	c.(595-597)cCg>cAg	p.P199Q	APOA1BP_ENST00000368233.3_Missense_Mutation_p.P199Q|APOA1BP_ENST00000368234.3_Silent_p.T180T	NM_144772.2	NP_658985.2	Q8NCW5	AIBP_HUMAN	apolipoprotein A-I binding protein	199	YjeF N-terminal.					extracellular region	protein binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|urinary_tract(1)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					GTTCGGGAACCGTTCCACAGC	0.562													A	156563279	C	A	156563279	3	1	404	1	0	0	0	0	1	0	0	0	784	652	23	4	614	4	APOA1BP	1	156563279	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	63956570	156563279	92687342	7	41014											
LRP1B	53353	broad.mit.edu	37	chr2	141274478	141274478	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cacagtggaattcatcacgtCcatcctcacaatctttctga	11	12	5	13	1	5	1	3	1	2	0	7	2	7	2	2	1	0	0	2	1	2	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:141274478C>G	ENST00000389484.3	-	50	9100	c.8129G>C	c.(8128-8130)gGa>gCa	p.G2710A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2710	LDL-receptor class A 15.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTCATCACGTCCATCCTCACA	0.328										TSP Lung(27;0.18)			G	141274478	C	G	141274478	3	3	404	1	0	0	0	0	1	0	0	0	9025	855	30	4	5838	4	LRP1B	2	141274478	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		141274478	101924895	8	41015											
DNAH7	56171	broad.mit.edu	37	chr2	196877622	196877622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attctttgatatcaactaaaCgtaattttctgcaaaagata	16	15	4	6	1	3	2	1	1	2	1	3	2	3	2	0	0	3	2	0	0	8	8			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr2:196877622C>T	ENST00000312428.6	-	10	978	c.878G>A	c.(877-879)cGt>cAt	p.R293H	DNAH7_ENST00000410072.1_Missense_Mutation_p.R293H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	293	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATCAACTAAACGTAATTTTCT	0.279													T	196877622	C	T	196877622	3	4	404	1	0	0	0	0	1	0	0	0	4645	536	19	1	11420	1	DNAH7	2	196877622	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	55603144	196877622	46321751	9	41016											
PBRM1	55193	broad.mit.edu	37	chr3	52597305	52597305	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtcaccttcacctgtggGggtgtgtagggcatgaggtc	5	11	15	10	0	2	1	2	1	0	0	3	1	2	1	3	4	0	2	3	4	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:52597305G>A	ENST00000356770.4	-	23	3986	c.3984C>T	c.(3982-3984)ccC>ccT	p.P1328P	PBRM1_ENST00000409767.1_Silent_p.P1375P|PBRM1_ENST00000394830.3_Intron|PBRM1_ENST00000409114.3_Silent_p.P1375P|PBRM1_ENST00000296302.7_Silent_p.P1360P|PBRM1_ENST00000409057.1_Silent_p.P1360P|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000410007.1_Silent_p.P1335P|PBRM1_ENST00000337303.4_Silent_p.P1360P			Q86U86	PB1_HUMAN	polybromo 1	1360					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		TCACCTGTGGGGGTGTGTAGG	0.498			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								A	52597305	G	A	52597305	2	1	404	1	0	0	0	0	0	0	0	1	11567	1219	43	2		2	PBRM1	3	52597305	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08		52597305	145425125	10	41017											
CACNA1D	776	broad.mit.edu	37	chr3	53837571	53837571	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcagtagtgaggaatgctacGaggatgacagctcgcccacc	11	7	12	11	2	1	2	1	2	0	0	2	5	1	4	2	2	3	3	2	2	3	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:53837571G>C	ENST00000288139.4	+	45	5735	c.5617G>C	c.(5617-5619)Gag>Cag	p.E1873Q	CACNA1D_ENST00000544977.1_Missense_Mutation_p.E232Q|CACNA1D_ENST00000350061.5_Missense_Mutation_p.E1853Q|CACNA1D_ENST00000422281.2_Missense_Mutation_p.E1829Q	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	GGAATGCTACGAGGATGACAG	0.617													C	53837571	G	C	53837571	3	2	404	1	0	0	0	0	1	0	0	0	2567	1059	37	4	5903	4	CACNA1D	3	53837571	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	1240266	53837571	144184859	11	41018											
HLTF	6596	broad.mit.edu	37	chr3	148792096	148792096	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaaaagtcatatgcagAggcatggtaaaagcattgtt	15	9	9	8	0	1	1	1	0	0	1	1	1	1	1	2	2	2	5	2	2	5	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:148792096A>C	ENST00000310053.5	-	4	628	c.435T>G	c.(433-435)ccT>ccG	p.P145P	HLTF_ENST00000465259.1_Silent_p.P145P|HLTF_ENST00000392912.2_Silent_p.P145P|HLTF_ENST00000494055.1_Silent_p.P145P	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	145					chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TCATATGCAGAGGCATGGTAA	0.363													C	148792096	A	C	148792096	2	2	404	1	0	0	0	0	0	0	0	1	7270	291	11	5		5	HLTF	3	148792096	Silent	SNP	A	TCGA-DU-8158-01A-11D-2253-08	94954525	148792096	49230334	12	41019											
SLITRK3	22865	broad.mit.edu	37	chr3	164906713	164906713	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaggtgatgcactggttgGtgccccaataaggtgagaat	12	10	13	6	0	0	2	0	2	0	1	0	3	0	2	2	4	2	2	2	4	4	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr3:164906713G>T	ENST00000475390.1	-	2	2349	c.1906C>A	c.(1906-1908)Cca>Aca	p.P636T	SLITRK3_ENST00000241274.3_Missense_Mutation_p.P636T			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	636						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						GCACTGGTTGGTGCCCCAATA	0.527										HNSCC(40;0.11)			T	164906713	G	T	164906713	3	4	404	1	0	0	0	0	1	0	0	0	14838	1261	44	4	1031	4	SLITRK3	3	164906713	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	16114617	164906713	33115717	13	41020											
CRIPAK	285464	broad.mit.edu	37	chr4	1388467	1388468	+	Frame_Shift_Del	DEL	CA	CA	-																															atgtggagtgcccgcctgctCacacgtgcccatgtggagtg																										TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr4:1388467_1388468delCA	ENST00000324803.4	+	1	3128_3129	c.168_169delCA	c.(166-171)ctcacafs	p.T57fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	57					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CCCGCCTGCTCACACGTGCCCA	0.644													-	1388468	CA	-	1388467	7	5	404	1	0	1	0	1	0	0	0	0	3908	813	29	0	170	0	CRIPAK	4	1388467	Frame_Shift_Del	DEL	CA	TCGA-DU-8158-01A-11D-2253-08		1388467	189765809	14	41021											
DMGDH	29958	broad.mit.edu	37	chr5	78359457	78359457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgccaggtagatccagcCgtgagctctgatttctccag	7	10	12	12	2	2	3	0	2	2	1	4	3	3	3	4	1	3	2	4	1	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:78359457C>A	ENST00000380311.4	-	2	263	c.121G>T	c.(121-123)Ggc>Tgc	p.G41C	DMGDH_ENST00000255189.3_Silent_p.T85T|DMGDH_ENST00000540686.1_Missense_Mutation_p.R11L|DMGDH_ENST00000520388.1_Intron			Q9UI17	M2GD_HUMAN	dimethylglycine dehydrogenase	243					choline metabolic process|glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|dimethylglycine dehydrogenase activity|electron carrier activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	34		all_lung(232;0.000638)|Lung NSC(167;0.00173)|Ovarian(174;0.0262)|Prostate(461;0.192)		OV - Ovarian serous cystadenocarcinoma(54;6.52e-45)|Epithelial(54;5.96e-40)|all cancers(79;3.56e-35)		TAGATCCAGCCGTGAGCTCTG	0.502													A	78359457	C	A	78359457	3	1	404	1	0	0	0	0	1	0	0	0	4620	639	23	4	2405	4	DMGDH	5	78359457	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		78359457	102555803	15	41022											
GABRA1	2554	broad.mit.edu	37	chr5	161324195	161324195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctacacccctaatttgGccaggggcgacccgggctta	8	7	11	15	2	0	0	0	0	0	0	0	1	0	0	5	4	2	2	5	4	3	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr5:161324195G>C	ENST00000428797.2	+	11	1493	c.1138G>C	c.(1138-1140)Gcc>Ccc	p.A380P	GABRA1_ENST00000437025.2_Missense_Mutation_p.A380P|GABRA1_ENST00000420560.1_Missense_Mutation_p.A380P|GABRA1_ENST00000023897.6_Missense_Mutation_p.A380P|GABRA1_ENST00000444819.1_Missense_Mutation_p.A380P|GABRA1_ENST00000393943.4_Missense_Mutation_p.A380P	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	380					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCTAATTTGGCCAGGGGCGA	0.458													C	161324195	G	C	161324195	3	2	404	1	0	0	0	0	1	0	0	0	6212	1203	42	4	1172	4	GABRA1	5	161324195	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	82964738	161324195	19591065	16	41023											
TMEM217	221468	broad.mit.edu	37	chr6	37186714	37186714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctaggtgcttctgttcaaaGatgagatacatgtctacggc	10	12	10	9	1	3	2	1	1	2	2	3	3	3	2	1	2	3	2	1	2	4	5			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:37186714G>C	ENST00000336655.2	-	2	132	c.93C>G	c.(91-93)atC>atG	p.I31M	TMEM217_ENST00000356757.2_Missense_Mutation_p.I31M|TMEM217_ENST00000497775.1_Intron	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	31						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						TCTGTTCAAAGATGAGATACA	0.478													C	37186714	G	C	37186714	3	2	404	1	0	0	0	0	1	0	0	0	16240	932	33	4	608	4	TMEM217	6	37186714	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		37186714	133928353	17	41024											
PGM3	5238	broad.mit.edu	37	chr6	83884095	83884095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccccatcagttctgacctGgttaaacaagtcaataatgt	12	12	7	10	0	3	1	2	1	1	0	3	1	3	1	3	1	2	2	3	1	5	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr6:83884095G>T	ENST00000513973.1	-	10	1356	c.1240C>A	c.(1240-1242)Cag>Aag	p.Q414K	PGM3_ENST00000283977.4_Missense_Mutation_p.Q333K|PGM3_ENST00000506587.1_Missense_Mutation_p.Q442K|PGM3_ENST00000512866.1_Missense_Mutation_p.Q414K	NM_001199918.1|NM_015599.2	NP_001186847.1|NP_056414.1	O95394	AGM1_HUMAN	phosphoglucomutase 3	414					dolichol-linked oligosaccharide biosynthetic process|embryo development ending in birth or egg hatching|glucose 1-phosphate metabolic process|hemopoiesis|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	magnesium ion binding|phosphoacetylglucosamine mutase activity|phosphoglucomutase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	18		all_cancers(76;0.000504)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.068)		BRCA - Breast invasive adenocarcinoma(397;0.0478)		GTTCTGACCTGGTTAAACAAG	0.383													T	83884095	G	T	83884095	3	4	404	1	0	0	0	0	1	0	0	0	11877	1357	47	4	404	4	PGM3	6	83884095	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	46697381	83884095	87230972	18	41025											
DNAH11	8701	broad.mit.edu	37	chr7	21640450	21640450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgagtttatgaagcattttCtcttgtatggccatgctgtg	7	17	10	7	0	1	2	0	2	1	0	2	2	1	2	1	1	2	4	1	1	3	6			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:21640450C>T	ENST00000328843.6	+	16	3188	c.3157C>T	c.(3157-3159)Ctc>Ttc	p.L1053F	DNAH11_ENST00000409508.3_Missense_Mutation_p.L1053F			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1053	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAAGCATTTTCTCTTGTATGG	0.438									Kartagener syndrome				T	21640450	C	T	21640450	3	4	404	1	0	0	0	0	1	0	0	0	4638	913	32	2	3219	2	DNAH11	7	21640450	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		21640450	137498213	19	41026											
EGFR	1956	broad.mit.edu	37	chr7	55211008	55211008	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcttagaccatccaggAggtggctggttatgtcctca	7	13	10	11	0	3	1	1	0	2	1	5	2	5	2	3	4	0	2	3	4	2	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:55211008A>T	ENST00000275493.2	+	3	428	c.251A>T	c.(250-252)gAg>gTg	p.E84V	EGFR_ENST00000342916.3_Missense_Mutation_p.E84V|EGFR_ENST00000455089.1_Missense_Mutation_p.E84V|EGFR_ENST00000344576.2_Missense_Mutation_p.E84V|EGFR_ENST00000454757.2_Missense_Mutation_p.E31V|EGFR_ENST00000420316.2_Missense_Mutation_p.E84V|EGFR_ENST00000442591.1_Missense_Mutation_p.E84V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	84					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCATCCAGGAGGTGGCTGGT	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55211008	A	T	55211008	3	4	404	1	0	0	0	0	1	0	0	0	5006	304	11	5	261	5	EGFR	7	55211008	Missense_Mutation	SNP	A	TCGA-DU-8158-01A-11D-2253-08	33570558	55211008	103927655	20	41027											
SEMA3E	9723	broad.mit.edu	37	chr7	83119551	83119551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcaagaaatccaaaaGggctatgaaatattgatgtt	17	10	10	4	0	1	4	1	2	0	2	2	5	2	4	1	2	0	2	1	2	7	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr7:83119551G>T	ENST00000307792.3	-	2	622	c.155C>A	c.(154-156)cCt>cAt	p.P52H	SEMA3E_ENST00000427262.1_5'UTR	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	52	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				AAATCCAAAAGGGCTATGAAA	0.413													T	83119551	G	T	83119551	3	4	404	1	0	0	0	0	1	0	0	0	14121	1000	35	4	2236	4	SEMA3E	7	83119551	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	27908543	83119551	76019112	21	41028											
RNF19A	25897	broad.mit.edu	37	chr8	101287238	101287238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaacgtatagttctcaaacGtaagctctgggctctctctt	10	13	8	10	2	4	1	1	0	4	1	6	1	4	1	0	1	3	5	0	1	5	5			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:101287238G>A	ENST00000519449.1	-	4	1142	c.826C>T	c.(826-828)Cgt>Tgt	p.R276C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R276C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	276					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GTTCTCAAACGTAAGCTCTGG	0.418													A	101287238	G	A	101287238	3	1	404	1	0	0	0	0	1	0	0	0	13561	1145	40	1	1722	1	RNF19A	8	101287238	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		101287238	45076784	22	41029											
SLC45A4	57210	broad.mit.edu	37	chr8	142231748	142231748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcgaggatgaagggccGccggcggccccagctcaggg	7	2	20	12	4	1	1	1	1	0	0	1	4	1	2	4	6	1	1	4	6	1	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:142231748G>A	ENST00000519067.1	-	2	508	c.205C>T	c.(205-207)Cgg>Tgg	p.R69W	SLC45A4_ENST00000517878.1_Missense_Mutation_p.R120W|SLC45A4_ENST00000433583.2_Missense_Mutation_p.R62W|SLC45A4_ENST00000024061.3_Missense_Mutation_p.R69W			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	120					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			ATGAAGGGCCGCCGGCGGCCC	0.617													A	142231748	G	A	142231748	3	1	404	1	0	0	0	0	1	0	0	0	14737	1086	38	1	2219	1	SLC45A4	8	142231748	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	40944510	142231748	4132274	23	41030											
EPPK1	83481	broad.mit.edu	37	chr8	144945911	144945911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagggacacgggccggcccCggaacttccccacagagacg	10	2	14	15	4	0	2	0	0	0	2	1	5	1	4	5	4	1	0	5	4	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr8:144945911C>T	ENST00000525985.1	-	2	1582	c.1511G>A	c.(1510-1512)cGg>cAg	p.R504Q				P58107	EPIPL_HUMAN	epiplakin 1	504						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGCCGGCCCCGGAACTTCCC	0.677													T	144945911	C	T	144945911	3	4	404	1	0	0	0	0	1	0	0	0	5231	652	23	1	5755	1	EPPK1	8	144945911	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	2714163	144945911	1418111	24	41031											
APBA1	320	broad.mit.edu	37	chr9	72131516	72131516	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgtgcgtccagctcgggcGcgtcccctatctcctcgtac	3	9	11	18	7	1	0	0	0	1	0	6	0	3	0	4	1	3	2	4	1	2	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:72131516G>T	ENST00000265381.4	-	2	833	c.611C>A	c.(610-612)gCg>gAg	p.A204E		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	204					axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						CAGCTCGGGCGCGTCCCCTAT	0.721													T	72131516	G	T	72131516	3	4	404	1	0	0	0	0	1	0	0	0	758	1087	38	4	1950	4	APBA1	9	72131516	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		72131516	69081915	25	41032											
COL15A1	1306	broad.mit.edu	37	chr9	101778341	101778341	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaagagtccggcagcccTccccctgatgggccaccgct	6	6	13	16	2	0	3	0	2	0	1	2	3	2	3	6	3	1	2	6	3	1	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:101778341T>C	ENST00000375001.3	+	11	2010	c.1587T>C	c.(1585-1587)ccT>ccC	p.P529P		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	529	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCGGCAGCCCTCCCCCTGATG	0.572													C	101778341	T	C	101778341	2	2	404	1	0	0	0	0	0	0	0	1	3703	1538	54	3		3	COL15A1	9	101778341	Silent	SNP	T	TCGA-DU-8158-01A-11D-2253-08	29646825	101778341	39435090	26	41033											
CACNA1B	774	broad.mit.edu	37	chr9	140938299	140938299	+	Frame_Shift_Del	DEL	C	C	-																															gatgacgtgatgaggagcggCccccggcctatcgtcccata																										TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr9:140938299delC	ENST00000277549.5	+	21	3505	c.936delC	c.(934-936)ggcfs	p.G312fs	CACNA1B_ENST00000545473.1_Frame_Shift_Del_p.G146fs|CACNA1B_ENST00000371363.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371355.4_Frame_Shift_Del_p.G1121fs|CACNA1B_ENST00000277551.2_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371372.1_Frame_Shift_Del_p.G1120fs|CACNA1B_ENST00000371357.1_Frame_Shift_Del_p.G1121fs			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1120					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	TGAGGAGCGGCCCCCGGCCTA	0.597													-	140938299	C	-	140938299	7	5	404	1	0	1	0	1	0	0	0	0	2565	726	26	0	3442	0	CACNA1B	9	140938299	Frame_Shift_Del	DEL	C	TCGA-DU-8158-01A-11D-2253-08	39159958	140938299	275132	27	41034											
ARMC3	219681	broad.mit.edu	37	chr10	23292319	23292319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatcaagtaacataattaaCgatggattctatgattatgg	15	14	7	5	1	3	1	2	1	1	0	3	3	3	2	0	2	2	1	0	2	6	6			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:23292319C>T	ENST00000298032.5	+	13	1791	c.1707C>T	c.(1705-1707)aaC>aaT	p.N569N	ARMC3_ENST00000409983.3_Silent_p.N569N|ARMC3_ENST00000376528.4_Silent_p.N306N|ARMC3_ENST00000409049.3_Silent_p.N569N	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	569							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACATAATTAACGATGGATTCT	0.323													T	23292319	C	T	23292319	2	4	404	1	0	0	0	0	0	0	0	1	957	535	19	1		1	ARMC3	10	23292319	Silent	SNP	C	TCGA-DU-8158-01A-11D-2253-08		23292319	112242428	28	41035											
PTEN	5728	broad.mit.edu	37	chr10	89717715	89717716	+	Frame_Shift_Ins	INS	-	-	A																															tttgagttccctcagccgttINSacctgtgtgtggtgatatca																										TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr10:89717715_89717716insA	ENST00000371953.3	+	7	2097_2098	c.740_741insA	c.(739-744)ttacctfs	p.P248fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	248	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.P248fs*5(13)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.L247*(2)|p.G165_*404del(1)|p.L247fs*6(1)|p.?(1)|p.L247fs*5(1)|p.L247fs*4(1)|p.L247F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTCAGCCGTTACCTGTGTGTG	0.406		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89717716	-	A	89717715	7	5	404	1	0	1	1	0	0	0	0	0	12823	1764	61	0	766	0	PTEN	10	89717715	Frame_Shift_Ins	INS	-	TCGA-DU-8158-01A-11D-2253-08	66425396	89717715	45817032	29	41036											
ATG16L2	89849	broad.mit.edu	37	chr11	72528829	72528829	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcttgactcagaccaaGtcccatcactggtcgcactg	10	8	9	14	1	2	3	2	1	0	2	4	3	3	3	2	1	1	2	2	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:72528829G>C	ENST00000321297.5	+	3	385	c.247G>C	c.(247-249)Gtc>Ctc	p.V83L	ATG16L2_ENST00000534905.1_Missense_Mutation_p.V83L	NM_033388.1	NP_203746.1	Q8NAA4	A16L2_HUMAN	autophagy related 16-like 2 (S. cerevisiae)	83					autophagy|protein transport	cytoplasm	protein binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)	14			BRCA - Breast invasive adenocarcinoma(5;2.73e-06)			CTCAGACCAAGTCCCATCACT	0.587													C	72528829	G	C	72528829	3	2	404	1	0	0	0	0	1	0	0	0	1097	1029	36	4	257	4	ATG16L2	11	72528829	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		72528829	62477687	30	41037											
BCL9L	283149	broad.mit.edu	37	chr11	118772576	118772576	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctctgcatggcattcaTgggcacctccatgggcatac	7	9	12	13	0	2	0	1	0	1	0	3	0	3	0	3	4	2	4	3	4	1	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr11:118772576T>C	ENST00000334801.3	-	6	2840	c.1876A>G	c.(1876-1878)Atg>Gtg	p.M626V	BCL9L_ENST00000526143.1_5'UTR	NM_182557.2	NP_872363.1	Q86UU0	BCL9L_HUMAN	B-cell CLL/lymphoma 9-like	626					negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		transcription coactivator activity			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	56	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.66e-05)		ATGGCATTCATGGGCACCTCC	0.622													C	118772576	T	C	118772576	3	2	404	1	0	0	0	0	1	0	0	0	1387	1464	51	3	2635	3	BCL9L	11	118772576	Missense_Mutation	SNP	T	TCGA-DU-8158-01A-11D-2253-08	46243747	118772576	16233940	31	41038											
WNK1	65125	broad.mit.edu	37	chr12	994382	994382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccccaggtcctaagcCtccagctgtagtatctcagc	8	10	8	15	0	1	0	1	0	1	0	4	0	3	0	5	1	5	4	5	1	4	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr12:994382C>T	ENST00000537687.1	+	19	5835	c.5192C>T	c.(5191-5193)cCt>cTt	p.P1731L	WNK1_ENST00000530271.2_Missense_Mutation_p.P1969L|WNK1_ENST00000340908.4_Missense_Mutation_p.P1064L|WNK1_ENST00000535572.1_Missense_Mutation_p.P1224L|WNK1_ENST00000315939.6_Missense_Mutation_p.P1471L	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1471					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GGTCCTAAGCCTCCAGCTGTA	0.507													T	994382	C	T	994382	3	4	404	1	0	0	0	0	1	0	0	0	17479	681	24	2	5988	2	WNK1	12	994382	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		994382	132857513	32	41039											
PSMC6	5706	broad.mit.edu	37	chr14	53175072	53175072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcagtatgaaaagtctgAaaatgatctgaaggccctac	16	8	9	8	0	2	4	0	4	2	0	2	4	2	4	1	1	2	2	1	1	8	2			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr14:53175072A>G	ENST00000445930.2	+	2	179	c.173A>G	c.(172-174)gAa>gGa	p.E58G	PSMC6_ENST00000606149.1_Missense_Mutation_p.E44G			P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	44					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|protein binding, bridging			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					GAAAAGTCTGAAAATGATCTG	0.353													G	53175072	A	G	53175072	3	3	404	1	0	0	0	0	1	0	0	0	12776	246	9	3	179	3	PSMC6	14	53175072	Missense_Mutation	SNP	A	TCGA-DU-8158-01A-11D-2253-08		53175072	54174468	33	41040											
COPS2	9318	broad.mit.edu	37	chr15	49447771	49447771	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgaaatcatcctccatgtcaGacatcttggccgggaggggg	9	9	13	10	1	3	2	2	1	1	1	5	3	5	3	3	4	0	0	3	4	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:49447771G>C	ENST00000388901.5	-	1	78	c.5C>G	c.(4-6)tCt>tGt	p.S2C	COPS2_ENST00000299259.6_Missense_Mutation_p.S2C|COPS2_ENST00000542928.1_Missense_Mutation_p.S2C	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	2					cullin deneddylation|transcription from RNA polymerase II promoter	cytoplasm|signalosome	protein binding|signal transducer activity			cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCCATGTCAGACATCTTGGC	0.557													C	49447771	G	C	49447771	3	2	404	1	0	0	0	0	1	0	0	0	3764	942	33	4	1399	4	COPS2	15	49447771	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		49447771	53083621	34	41041											
PDE8A	5151	broad.mit.edu	37	chr15	85610300	85610300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatggattctgcagggcatGtgaaaaagcagggtttaagt	13	11	13	4	0	1	1	0	1	1	0	1	2	1	2	0	3	2	4	0	3	4	4			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr15:85610300G>A	ENST00000310298.4	+	4	551	c.299G>A	c.(298-300)tGt>tAt	p.C100Y	PDE8A_ENST00000557957.1_Missense_Mutation_p.C28Y|PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000339708.5_Missense_Mutation_p.C100Y|PDE8A_ENST00000394553.1_Missense_Mutation_p.C100Y			O60658	PDE8A_HUMAN	phosphodiesterase 8A	100					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			TGCAGGGCATGTGAAAAAGCA	0.383													A	85610300	G	A	85610300	3	1	404	1	0	0	0	0	1	0	0	0	11729	1377	48	2	309	2	PDE8A	15	85610300	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	36162529	85610300	16921092	35	41042											
DHX38	9785	broad.mit.edu	37	chr16	72132924	72132924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagacacttggggtccacccCgcgtctgtccaggggccgag	7	6	14	14	3	1	1	0	0	1	1	3	2	3	1	5	4	0	0	5	4	1	1	rs148934675		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72132924C>T	ENST00000268482.3	+	6	1372	c.863C>T	c.(862-864)cCg>cTg	p.P288L	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	288					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GGGTCCACCCCGCGTCTGTCC	0.617													T	72132924	C	T	72132924	3	4	404	1	0	0	0	0	1	0	0	0	4550	652	23	1	881	1	DHX38	16	72132924	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		72132924	18221829	36	41043											
ZFHX3	463	broad.mit.edu	37	chr16	72993684	72993684	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccacgtcactctcctcgtCcccctcctcaccggtgtcgc	3	10	6	22	4	3	0	2	0	1	0	9	0	6	0	6	1	0	0	6	1	0	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:72993684C>A	ENST00000268489.5	-	2	1033	c.361G>T	c.(361-363)Gac>Tac	p.D121Y	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	121					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTCTCCTCGTCCCCCTCCTCA	0.687													A	72993684	C	A	72993684	3	1	404	1	0	0	0	0	1	0	0	0	17735	855	30	4	10786	4	ZFHX3	16	72993684	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	860760	72993684	17361069	37	41044											
PLCG2	5336	broad.mit.edu	37	chr16	81953235	81953235	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagatgagactgcgctaccCcgtgacccccgagctcctgg	9	6	11	15	3	0	3	0	2	0	2	1	5	1	3	5	1	3	2	5	1	2	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr16:81953235C>A	ENST00000359376.3	+	20	2415	c.2201C>A	c.(2200-2202)cCc>cAc	p.P734H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	734	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CTGCGCTACCCCGTGACCCCC	0.517													A	81953235	C	A	81953235	3	1	404	1	0	0	0	0	1	0	0	0	12113	623	22	4	2275	4	PLCG2	16	81953235	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08	8959551	81953235	8401518	38	41045											
FLOT2	2319	broad.mit.edu	37	chr17	27207756	27207756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggtccacgcctgtgaggGcatgcacagaggcaggcagc	10	4	15	12	1	0	2	0	1	0	1	1	2	1	2	2	4	2	4	2	4	0	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:27207756G>A	ENST00000394906.2	-	12	1465	c.1388C>T	c.(1387-1389)gCc>gTc	p.A463V	FLOT2_ENST00000585169.1_Missense_Mutation_p.A408V|FLOT2_ENST00000577789.1_5'UTR|FLOT2_ENST00000394908.4_Missense_Mutation_p.A408V			Q14254	FLOT2_HUMAN	flotillin 2	408					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCTGTGAGGGCATGCACAGA	0.597													A	27207756	G	A	27207756	3	1	404	1	0	0	0	0	1	0	0	0	5986	1203	42	2	71	2	FLOT2	17	27207756	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08		27207756	53987454	39	41046											
KIF19	124602	broad.mit.edu	37	chr17	72343952	72343952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccgcacagtgatgatcGctcacatcagtcctgcgagc	10	7	10	14	3	2	2	2	2	0	0	4	3	3	2	2	0	3	2	2	0	0	0			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr17:72343952G>A	ENST00000389916.4	+	9	1099	c.961G>A	c.(961-963)Gct>Act	p.A321T		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	321					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						AGTGATGATCGCTCACATCAG	0.627													A	72343952	G	A	72343952	3	1	404	1	0	0	0	0	1	0	0	0	8340	1087	38	1	995	1	KIF19	17	72343952	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	45136196	72343952	8851258	40	41047											
ZNF557	79230	broad.mit.edu	37	chr19	7083553	7083553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccaatagcttttctcttaCaattcacaggagaatacata	15	13	4	9	0	2	1	1	0	1	1	3	2	2	1	1	1	4	1	1	1	8	8			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr19:7083553C>G	ENST00000414706.1	+	8	1564	c.1091C>G	c.(1090-1092)aCa>aGa	p.T364R	ZNF557_ENST00000439035.2_Missense_Mutation_p.T357R|ZNF557_ENST00000252840.6_Missense_Mutation_p.T364R	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		TTTTCTCTTACAATTCACAGG	0.383													G	7083553	C	G	7083553	3	3	404	1	0	0	0	0	1	0	0	0	18089	478	17	4	1113	4	ZNF557	19	7083553	Missense_Mutation	SNP	C	TCGA-DU-8158-01A-11D-2253-08		7083553	52045430	41	41048											
HSPA13	6782	broad.mit.edu	37	chr21	15748040	15748040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacatctagagttcctccGcccaagtctatcaccaagac	12	8	6	15	1	3	2	1	0	2	2	5	3	5	2	4	0	0	1	4	0	4	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:15748040G>A	ENST00000285667.3	-	4	748	c.681C>T	c.(679-681)ggC>ggT	p.G227G	HSPA13_ENST00000544452.1_Silent_p.G19G	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	227						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GAGTTCCTCCGCCCAAGTCTA	0.483													A	15748040	G	A	15748040	2	1	404	1	0	0	0	0	0	0	0	1	7463	1074	38	1		1	HSPA13	21	15748040	Silent	SNP	G	TCGA-DU-8158-01A-11D-2253-08		15748040	32381855	42	41049											
BACH1	571	broad.mit.edu	37	chr21	30699512	30699513	+	Frame_Shift_Del	DEL	TA	TA	-																															tcaaaggactttcacaacatTaagttctgtcaactgccctt																								rs145991657		TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr21:30699512_30699513delTA	ENST00000399921.1	+	3	1610_1611	c.1367_1368delTA	c.(1366-1368)ttafs	p.L456fs	BACH1_ENST00000286800.3_Frame_Shift_Del_p.L456fs	NM_206866.1	NP_996749.1	O14867	BACH1_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 1	456						nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|urinary_tract(2)	27						TTCACAACATTAAGTTCTGTCA	0.436													-	30699513	TA	-	30699512	7	5	404	1	0	1	0	1	0	0	0	0	1288	1764	61	0	1373	0	BACH1	21	30699512	Frame_Shift_Del	DEL	TA	TCGA-DU-8158-01A-11D-2253-08	14951472	30699512	17430383	43	41050											
BCR	613	broad.mit.edu	37	chr22	23631729	23631729	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagcttctccctgacatcCgtggagctgcagatgctgac	9	9	11	12	1	1	4	0	2	1	2	3	5	2	5	2	1	4	4	2	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chr22:23631729C>G	ENST00000305877.8	+	13	3379	c.2628C>G	c.(2626-2628)tcC>tcG	p.S876S	BCR_ENST00000359540.3_Silent_p.S876S	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	876	C2.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCTGACATCCGTGGAGCTGC	0.572			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								G	23631729	C	G	23631729	2	3	404	1	0	0	0	0	0	0	0	1	1393	639	23	4		4	BCR	22	23631729	Silent	SNP	C	TCGA-DU-8158-01A-11D-2253-08		23631729	27672837	44	41051											
APOO	79135	broad.mit.edu	37	chrX	23899066	23899066	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccccacggacctctgaaTtacctgaaatgcagaagcaa	13	7	9	12	1	1	3	0	2	1	1	1	4	1	4	4	2	3	2	4	2	5	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:23899066T>A	ENST00000379226.4	-	2	244	c.13A>T	c.(13-15)Att>Ttt	p.I5F	APOO_ENST00000379220.3_Missense_Mutation_p.I5F	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	5					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACCTCTGAATTACCTGAAAT	0.478													A	23899066	T	A	23899066	3	1	404	1	0	0	0	0	1	0	0	0	816	1493	52	5	611	5	APOO	23	23899066	Missense_Mutation	SNP	T	TCGA-DU-8158-01A-11D-2253-08		23899066	131371494	45	41052											
ZXDB	158586	broad.mit.edu	37	chrX	57620231	57620231	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcttagctcagctagaaGcagcaaattctctcacaccc	12	10	5	14	0	4	1	2	0	2	1	6	1	4	1	1	0	4	4	1	0	4	3			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:57620231G>A	ENST00000374888.1	+	1	1963	c.1750G>A	c.(1750-1752)Gca>Aca	p.A584T		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	584	Required for transcriptional activation (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						TCAGCTAGAAGCAGCAAATTC	0.463													A	57620231	G	A	57620231	3	1	404	1	0	0	0	0	1	0	0	0	18348	971	34	2	1752	2	ZXDB	23	57620231	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	33721165	57620231	97650329	46	41053											
LUZP4	51213	broad.mit.edu	37	chrX	114541268	114541268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcactcagagagatctcGtggccactgagagagatctc	11	9	11	10	1	4	4	2	1	2	4	6	7	4	4	1	1	0	0	1	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:114541268G>A	ENST00000371920.3	+	4	848	c.841G>A	c.(841-843)Gtg>Atg	p.V281M	LUZP4_ENST00000451986.2_Missense_Mutation_p.V199M	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	281						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						GAGAGATCTCGTGGCCACTGA	0.428													A	114541268	G	A	114541268	3	1	404	1	0	0	0	0	1	0	0	0	9158	1145	40	1	855	1	LUZP4	23	114541268	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	56921037	114541268	40729292	47	41054											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686452	125686452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcgccatcgagcgatacGtcgccggccgcctctgcctc	5	7	12	17	7	1	0	0	0	1	0	4	2	1	0	5	1	4	0	5	1	1	1			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:125686452G>A	ENST00000371126.1	-	1	382	c.140C>T	c.(139-141)aCg>aTg	p.T47M		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	47								p.T47M(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						CGAGCGATACGTCGCCGGCCG	0.721													A	125686452	G	A	125686452	3	1	404	1	0	0	0	0	1	0	0	0	4298	1145	40	1	1255	1	DCAF12L1	23	125686452	Missense_Mutation	SNP	G	TCGA-DU-8158-01A-11D-2253-08	11145184	125686452	29584108	48	41055											
DDX26B	203522	broad.mit.edu	37	chrX	134711345	134711345	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcataaaacccacccttgtAcatacaggtatagagtagtg	14	10	7	10	0	1	1	1	0	0	1	1	1	1	1	2	1	3	3	2	1	7	7			TCGA-DU-8158-01A-11D-2253-08	TCGA-DU-8158-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f9019256-e13e-41ea-ab8b-f4d1e8715998	75357e93-258a-49ac-a33f-0fc24dbf88d2	g.chrX:134711345A>G	ENST00000370752.4	+	14	2335	c.2001A>G	c.(1999-2001)gtA>gtG	p.V667V	DDX26B_ENST00000481908.1_Intron	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	667										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CCACCCTTGTACATACAGGTA	0.443													G	134711345	A	G	134711345	2	3	404	1	0	0	0	0	0	0	0	1	4387	378	14	3		3	DDX26B	23	134711345	Silent	SNP	A	TCGA-DU-8158-01A-11D-2253-08	9024893	134711345	20559215	49	41056											
AADACL4	343066	broad.mit.edu	37	chr1	12726320	12726320	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctctcctggcgtgacgcCatcttgaacggcacttgtgt	6	11	11	13	3	2	2	0	2	2	0	3	3	2	2	3	2	1	1	3	2	1	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12726320C>A	ENST00000376221.1	+	4	798	c.798C>A	c.(796-798)gcC>gcA	p.A266A		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	266						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		GGCGTGACGCCATCTTGAACG	0.502													A	12726320	C	A	12726320	2	1	405	1	0	0	0	0	0	0	0	1	13	581	21	4		4	AADACL4	1	12726320	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		12726320	236524301	1	41057											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837725	12837725	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctgttgaatgcctgctgtCagggtggatttatttaaagc	8	15	12	6	0	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	4	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:12837725C>T	ENST00000357726.4	+	3	1462	c.1435C>T	c.(1435-1437)Cag>Tag	p.Q479*		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	479										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGCCTGCTGTCAGGGTGGATT	0.507													T	12837725	C	T	12837725	4	4	405	1	0	0	0	0	0	1	0	0	12510	827	29	2	1445	2	PRAMEF12	1	12837725	Nonsense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	111405	12837725	236412896	2	41058											
CLCNKB	1188	broad.mit.edu	37	chr1	16372121	16372121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtacttcctgatgaccctcGgggtgctcatggccctggtc	4	11	13	13	1	1	2	1	2	0	0	4	2	2	2	3	5	2	2	3	5	1	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:16372121G>A	ENST00000375679.4	+	3	280	c.169G>A	c.(169-171)Ggg>Agg	p.G57R		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GATGACCCTCGGGGTGCTCAT	0.637													A	16372121	G	A	16372121	3	1	405	1	0	0	0	0	1	0	0	0	3501	1116	39	1	175	1	CLCNKB	1	16372121	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	3534396	16372121	232878500	3	41059											
ATP1A2	477	broad.mit.edu	37	chr1	160093068	160093069	+	Frame_Shift_Ins	INS	-	-	C																															ccaacgccctcacaccacctINScccacaacccctgagtgggt																										TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160093068_160093069insC	ENST00000361216.3	+	4	332_333	c.243_244insC	c.(244-246)cccfs	p.P82fs	ATP1A2_ENST00000392233.3_Frame_Shift_Ins_p.P82fs	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	82	Interaction with phosphoinositide-3 kinase (By similarity).				ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCACACCACCTCCCACAACCCC	0.629													C	160093069	-	C	160093068	7	5	405	1	0	1	1	0	0	0	0	0	1134	1538	54	0	257	0	ATP1A2	1	160093068	Frame_Shift_Ins	INS	-	TCGA-DU-8161-01A-11D-2253-08	143720947	160093068	89157553	4	41060											
ITLN1	55600	broad.mit.edu	37	chr1	160849160	160849160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaggcgttggctgctctctCgttattaaataccctgaact	9	13	8	11	2	1	1	0	1	1	0	3	1	1	1	1	2	3	4	1	2	6	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:160849160C>T	ENST00000326245.3	-	7	845	c.730G>A	c.(730-732)Gag>Aag	p.E244K	ITLN1_ENST00000487531.1_5'UTR	NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	244	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GCTGCTCTCTCGTTATTAAAT	0.488													T	160849160	C	T	160849160	3	4	405	1	0	0	0	0	1	0	0	0	7968	893	31	1	219	1	ITLN1	1	160849160	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	756092	160849160	88401461	5	41061											
ASTN1	460	broad.mit.edu	37	chr1	176838145	176838145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtagccattgaagagattgTagatcttgtctgctatttct	9	17	9	6	0	3	3	0	1	3	2	3	4	3	3	1	0	2	3	1	0	4	7			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:176838145T>C	ENST00000367654.3	-	22	3717	c.3506A>G	c.(3505-3507)tAc>tGc	p.Y1169C	ASTN1_ENST00000367657.3_Missense_Mutation_p.Y1161C|ASTN1_ENST00000361833.2_Missense_Mutation_p.Y1161C|ASTN1_ENST00000424564.2_Missense_Mutation_p.Y1161C	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GAAGAGATTGTAGATCTTGTC	0.403													C	176838145	T	C	176838145	3	2	405	1	0	0	0	0	1	0	0	0	1069	1638	57	3	414	3	ASTN1	1	176838145	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	15988985	176838145	72412476	6	41062											
PTPRC	5788	broad.mit.edu	37	chr1	198703516	198703516	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgggaacagaaagccacaGttattgtcatggtcactcga	12	11	10	8	1	2	1	2	0	0	1	3	3	2	2	1	2	2	1	1	2	3	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:198703516G>C	ENST00000367376.2	+	22	2404	c.2233G>C	c.(2233-2235)Gtt>Ctt	p.V745L	PTPRC_ENST00000348564.6_Missense_Mutation_p.V586L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V584L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V747L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V697L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	745	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						GAAAGCCACAGTTATTGTCAT	0.408													C	198703516	G	C	198703516	3	2	405	1	0	0	0	0	1	0	0	0	12885	1029	36	4	2326	4	PTPRC	1	198703516	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	21865371	198703516	50547105	7	41063											
IL20	50604	broad.mit.edu	37	chr1	207039239	207039239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagccttctctctgctgcGttttatctcctatggactcc	4	17	6	14	1	4	0	1	0	3	0	7	1	5	1	3	1	3	2	3	1	2	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:207039239G>A	ENST00000367098.1	+	2	405	c.42G>A	c.(40-42)gcG>gcA	p.A14A	IL20_ENST00000391930.2_Silent_p.A14A|IL20_ENST00000367096.3_Silent_p.A14A			Q9NYY1	IL20_HUMAN	interleukin 20	14					positive regulation of keratinocyte differentiation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of inflammatory response	extracellular space	cytokine activity|interleukin-20 receptor binding			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)|urinary_tract(1)	9	Breast(84;0.201)			OV - Ovarian serous cystadenocarcinoma(81;0.00459)		TCTCTGCTGCGTTTTATCTCC	0.458													A	207039239	G	A	207039239	2	1	405	1	0	0	0	0	0	0	0	1	7725	1132	40	1		1	IL20	1	207039239	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	8335723	207039239	42211382	8	41064											
ENAH	55740	broad.mit.edu	37	chr1	225706962	225706962	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctttctaactgctcttgtCgctccctttcttgcctctcc	2	17	4	18	1	4	0	0	0	4	0	7	0	5	0	4	0	3	2	4	0	1	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:225706962C>T	ENST00000366844.3	-	5	1191	c.740G>A	c.(739-741)cGa>cAa	p.R247Q	ENAH_ENST00000391874.2_5'UTR|ENAH_ENST00000366843.2_Missense_Mutation_p.R247Q|ENAH_ENST00000284563.6_Missense_Mutation_p.R266Q	NM_001008493.1|NM_018212.4	NP_001008493.1|NP_060682.2	Q8N8S7	ENAH_HUMAN	enabled homolog (Drosophila)						axon guidance|intracellular transport|T cell receptor signaling pathway	cytosol|filopodium|focal adhesion|lamellipodium|synapse	actin binding|SH3 domain binding|WW domain binding			NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Breast(184;0.206)			GBM - Glioblastoma multiforme(131;0.19)		CTGCTCTTGTCGCTCCCTTTC	0.517													T	225706962	C	T	225706962	3	4	405	1	0	0	0	0	1	0	0	0	5152	884	31	1	1079	1	ENAH	1	225706962	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	18667723	225706962	23543659	9	41065											
SLC35F3	148641	broad.mit.edu	37	chr1	234454541	234454541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaagtttggagaagcCgccttatttttgtccatctt	8	16	9	8	1	1	1	0	0	1	1	2	2	2	1	3	1	2	2	3	1	3	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr1:234454541C>T	ENST00000366618.3	+	6	1144	c.999C>T	c.(997-999)gcC>gcT	p.A333A	SLC35F3_ENST00000366617.3_Silent_p.A264A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	264					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TTGGAGAAGCCGCCTTATTTT	0.468													T	234454541	C	T	234454541	2	4	405	1	0	0	0	0	0	0	0	1	14684	639	23	1		1	SLC35F3	1	234454541	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	8747579	234454541	14796080	10	41066											
XPO1	7514	broad.mit.edu	37	chr2	61719740	61719740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatcgtttttcgtcctcttCatgcattgctccactaatgg	8	16	6	11	2	2	0	1	0	1	0	6	0	4	0	2	1	2	3	2	1	2	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:61719740C>T	ENST00000401558.2	-	14	2255	c.1528G>A	c.(1528-1530)Gaa>Aaa	p.E510K	XPO1_ENST00000406957.1_Missense_Mutation_p.E510K|XPO1_ENST00000404992.2_Missense_Mutation_p.E510K	NM_003400.3	NP_003391.1	O14980	XPO1_HUMAN	exportin 1 (CRM1 homolog, yeast)	510	Necessary for HTLV-1 Rex-mediated mRNA export.				intracellular protein transport|mitotic prometaphase|mRNA metabolic process|mRNA transport|viral genome transport in host cell|viral infectious cycle	annulate lamellae|Cajal body|cytosol|kinetochore|nuclear envelope|nucleolus|ribonucleoprotein complex	protein binding|protein transporter activity|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(5)|lung(5)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39			LUSC - Lung squamous cell carcinoma(7;5.71e-05)|Epithelial(17;0.0662)|all cancers(80;0.226)			TCGTCCTCTTCATGCATTGCT	0.348			Mis		CLL								T	61719740	C	T	61719740	3	4	405	1	0	0	0	0	1	0	0	0	17547	835	29	2	1735	2	XPO1	2	61719740	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		61719740	181479633	11	41067											
ADD2	119	broad.mit.edu	37	chr2	70904917	70904917	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcatctccagtacttcctgGgggtcagtatagagaggcac	9	10	11	11	0	3	1	2	0	1	1	5	2	4	1	2	3	1	3	2	3	3	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:70904917G>C	ENST00000264436.4	-	12	1920	c.1476C>G	c.(1474-1476)ccC>ccG	p.P492P	ADD2_ENST00000413157.2_Silent_p.P492P|ADD2_ENST00000407644.2_Silent_p.P492P|ADD2_ENST00000355733.3_Silent_p.P492P|ADD2_ENST00000430656.1_Silent_p.P508P	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						GTACTTCCTGGGGGTCAGTAT	0.522													C	70904917	G	C	70904917	2	2	405	1	0	0	0	0	0	0	0	1	305	1246	43	4		4	ADD2	2	70904917	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	9185177	70904917	172294456	12	41068											
KIF5C	3800	broad.mit.edu	37	chr2	149864511	149864511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgatgatggagggggcaGtgctgcccagaagcagaaaa	14	4	15	8	1	0	3	0	1	0	2	0	5	0	4	1	3	4	3	1	3	4	0			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:149864511G>A	ENST00000435030.1	+	23	2848	c.2480G>A	c.(2479-2481)aGt>aAt	p.S827N	KIF5C_ENST00000397413.1_Missense_Mutation_p.S595N|KIF5C_ENST00000464066.1_3'UTR|KIF5C_ENST00000414838.2_Missense_Mutation_p.S732N			O60282	KIF5C_HUMAN	kinesin family member 5C	827					microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		GGAGGGGGCAGTGCTGCCCAG	0.557													A	149864511	G	A	149864511	3	1	405	1	0	0	0	0	1	0	0	0	8365	1029	36	2	2492	2	KIF5C	2	149864511	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	78959594	149864511	93334862	13	41069											
SCN1A	6323	broad.mit.edu	37	chr2	166892601	166892601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcactactaaagtcttccGtgtttaaattttcaaagtca	13	16	4	8	1	4	0	3	0	1	0	5	0	5	0	1	0	1	1	1	0	6	8			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:166892601G>A	ENST00000423058.2	-	16	3403	c.3386C>T	c.(3385-3387)aCg>aTg	p.T1129M	SCN1A_ENST00000303395.4_Missense_Mutation_p.T1129M|AC010127.3_ENST00000595268.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T1118M|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000597623.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T1101M	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	1129						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AAAGTCTTCCGTGTTTAAATT	0.343													A	166892601	G	A	166892601	3	1	405	1	0	0	0	0	1	0	0	0	14007	1145	40	1	2687	1	SCN1A	2	166892601	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	17028090	166892601	76306772	14	41070											
HJURP	55355	broad.mit.edu	37	chr2	234750028	234750028	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgcaggaccccctctgtaCatgttcatggcccaggagtc	7	9	10	15	1	2	0	1	0	1	0	4	2	2	2	3	3	1	3	3	3	1	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr2:234750028C>G	ENST00000411486.2	-	8	1463	c.1398G>C	c.(1396-1398)atG>atC	p.M466I	HJURP_ENST00000432087.1_Missense_Mutation_p.M412I|HJURP_ENST00000441687.1_Missense_Mutation_p.M381I	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	466					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		CCCCTCTGTACATGTTCATGG	0.532													G	234750028	C	G	234750028	3	3	405	1	0	0	0	0	1	0	0	0	7244	478	17	4	856	4	HJURP	2	234750028	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	67857427	234750028	8449345	15	41071											
FGD5	152273	broad.mit.edu	37	chr3	14939167	14939167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctggaggaaaggcTgtcaaattggtgagcagtcc	11	7	17	6	0	1	1	1	1	0	0	2	5	2	5	1	6	2	3	1	6	2	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:14939167T>C	ENST00000285046.5	+	5	3010	c.2900T>C	c.(2899-2901)cTg>cCg	p.L967P	FGD5_ENST00000543601.1_Missense_Mutation_p.L726P|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	967	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GAGGAAAGGCTGTCAAATTGG	0.547													C	14939167	T	C	14939167	3	2	405	1	0	0	0	0	1	0	0	0	5885	1580	55	3	2918	3	FGD5	3	14939167	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08		14939167	183083263	16	41072											
POU1F1	5449	broad.mit.edu	37	chr3	87322565	87322565	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacagaataatgaagtcctGttgctgtgtttcccaacgtt	11	13	9	8	1	0	2	0	1	0	1	2	3	2	2	2	0	3	4	2	0	5	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:87322565G>T	ENST00000350375.2	-	2	270	c.146C>A	c.(145-147)aCa>aAa	p.T49K	POU1F1_ENST00000344265.3_Missense_Mutation_p.T75K|POU1F1_ENST00000560656.1_Missense_Mutation_p.T49K	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	49					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATGAAGTCCTGTTGCTGTGTT	0.383													T	87322565	G	T	87322565	3	4	405	1	0	0	0	0	1	0	0	0	12346	1377	48	4	749	4	POU1F1	3	87322565	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	72383398	87322565	110699865	17	41073											
SEC61A1	29927	broad.mit.edu	37	chr3	127786902	127786902	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggtccatgaactcaaccGgtgagtggtggccccaggtc	8	8	13	12	1	1	2	1	2	0	0	3	2	2	2	4	5	2	0	4	5	2	0			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr3:127786902G>A	ENST00000243253.3	+	11	1428	c.1244G>A	c.(1243-1245)cGg>cAg	p.R415Q	SEC61A1_ENST00000424880.2_Splice_Site_p.R295Q|SEC61A1_ENST00000464451.1_Splice_Site_p.R421Q|SEC61A1_ENST00000483956.1_3'UTR|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	415					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding	p.R415Q(1)		central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						GAACTCAACCGGTGAGTGGTG	0.577											OREG0015775	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	127786902	G	A	127786902	5	1	405	1	0	0	0	0	0	0	1	0	14093	1130	39	1	1286	1	SEC61A1	3	127786902	Splice_Site	SNP	G	TCGA-DU-8161-01A-11D-2253-08	40464337	127786902	70235528	18	41074											
TLR1	7096	broad.mit.edu	37	chr4	38798156	38798156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagttagcccaaaaaaggCcacgtttgctcttttccttg	10	14	7	10	1	1	0	0	0	1	0	2	0	2	0	3	1	2	3	3	1	5	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:38798156C>T	ENST00000308979.2	-	4	2570	c.2297G>A	c.(2296-2298)gGc>gAc	p.G766D	TLR1_ENST00000502213.2_Missense_Mutation_p.G766D	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	766	TIR.				cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						CCAAAAAAGGCCACGTTTGCT	0.423													T	38798156	C	T	38798156	3	4	405	1	0	0	0	0	1	0	0	0	16049	739	26	2	67	2	TLR1	4	38798156	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		38798156	152356120	19	41075											
TEC	7006	broad.mit.edu	37	chr4	48173432	48173432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgctttgtggactaggtGcaaaaatgtaaagtgtgtta	11	13	11	6	0	0	0	0	0	0	0	0	1	0	1	1	2	2	4	1	2	6	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr4:48173432G>C	ENST00000381501.3	-	4	435	c.278C>G	c.(277-279)gCa>gGa	p.A93G		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	93	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						TGGACTAGGTGCAAAAATGTA	0.353													C	48173432	G	C	48173432	3	2	405	1	0	0	0	0	1	0	0	0	15842	1319	46	4	1677	4	TEC	4	48173432	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	9375276	48173432	142980844	20	41076											
FLT4	2324	broad.mit.edu	37	chr5	180047927	180047927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccttggcgttgcacaCgctgcacagatagcgtcccg	7	7	12	15	4	0	1	0	0	0	1	1	1	1	1	2	1	4	5	2	1	1	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr5:180047927C>T	ENST00000261937.6	-	15	2326	c.2248G>A	c.(2248-2250)Gtg>Atg	p.V750M	FLT4_ENST00000393347.3_Missense_Mutation_p.V750M|FLT4_ENST00000502649.1_Missense_Mutation_p.V750M	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	750	Ig-like C2-type 7.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCGTTGCACACGCTGCACAGA	0.657													T	180047927	C	T	180047927	3	4	405	1	0	0	0	0	1	0	0	0	5993	536	19	1	1915	1	FLT4	5	180047927	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		180047927	867333	21	41077											
DAGLB	221955	broad.mit.edu	37	chr7	6472559	6472559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagcagggcgaggcccGccgcaatgtcgctgggcacc	8	4	16	13	4	0	1	0	1	0	0	1	3	0	1	3	3	1	4	3	3	2	0	rs148006210	byFrequency	TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:6472559G>A	ENST00000297056.6	-	5	879	c.710C>T	c.(709-711)gCg>gTg	p.A237V	DAGLB_ENST00000428902.2_Missense_Mutation_p.A110V|DAGLB_ENST00000436575.1_Missense_Mutation_p.A196V|DAGLB_ENST00000425398.2_Missense_Mutation_p.R151W|DAGLB_ENST00000421761.2_Missense_Mutation_p.R24W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	237					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		GGCGAGGCCCGCCGCAATGTC	0.602													A	6472559	G	A	6472559	3	1	405	1	0	0	0	0	1	0	0	0	4261	1087	38	1	1352	1	DAGLB	7	6472559	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		6472559	152666104	22	41078											
IKZF1	10320	broad.mit.edu	37	chr7	50459521	50459521	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggacagactagcaagtaaCgtcgccaaacgtaagagctc	14	6	10	11	3	0	2	0	0	0	2	2	3	0	3	1	1	4	4	1	1	5	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:50459521C>T	ENST00000331340.3	+	7	965	c.810C>T	c.(808-810)aaC>aaT	p.N270N	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000438033.1_Silent_p.N183N|IKZF1_ENST00000359197.5_Silent_p.N228N|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000439701.1_Silent_p.N228N|IKZF1_ENST00000343574.5_Silent_p.N183N	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	270					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TAGCAAGTAACGTCGCCAAAC	0.393			"D,T"	BCL6	"ALL, DLBCL"								T	50459521	C	T	50459521	2	4	405	1	0	0	0	0	0	0	0	1	7672	535	19	1		1	IKZF1	7	50459521	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	43986962	50459521	108679142	23	41079											
PCLO	27445	broad.mit.edu	37	chr7	82583644	82583644	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccactggctctgtataaaCtgtggttatgctatccaggg	8	13	11	9	0	1	0	0	0	1	0	3	0	3	0	2	3	2	4	2	3	5	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:82583644C>A	ENST00000333891.9	-	5	6962	c.6625G>T	c.(6625-6627)Gtt>Ttt	p.V2209F	PCLO_ENST00000423517.2_Missense_Mutation_p.V2209F	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TCTGTATAAACTGTGGTTATG	0.413													A	82583644	C	A	82583644	3	1	405	1	0	0	0	0	1	0	0	0	11659	565	20	4	8904	4	PCLO	7	82583644	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	32124123	82583644	76555019	24	41080											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758242	99758242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacaggatggatgagggcaTtgggattgagggtttgggct	10	10	18	3	0	0	2	0	2	0	0	0	5	0	5	0	6	1	3	0	6	1	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:99758242T>C	ENST00000360039.4	-	4	1162	c.770A>G	c.(769-771)aAt>aGt	p.N257S	GAL3ST4_ENST00000426974.2_Missense_Mutation_p.N195S|GAL3ST4_ENST00000411994.1_Missense_Mutation_p.M156V|GAL3ST4_ENST00000413800.1_Missense_Mutation_p.N257S|GAL3ST4_ENST00000423751.1_Missense_Mutation_p.M156V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	257					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GATGAGGGCATTGGGATTGAG	0.557													C	99758242	T	C	99758242	3	2	405	1	0	0	0	0	1	0	0	0	6254	1493	52	3	694	3	GAL3ST4	7	99758242	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	17174598	99758242	59380421	25	41081											
GPR22	2845	broad.mit.edu	37	chr7	107114948	107114948	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacatctctgtaaaacctgCaaaccgaattctgacaatgg	14	10	7	10	1	2	2	0	2	2	0	3	3	2	2	2	1	3	2	2	1	5	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:107114948C>A	ENST00000304402.4	+	3	1786	c.443C>A	c.(442-444)gCa>gAa	p.A148E	COG5_ENST00000393603.2_Intron|COG5_ENST00000347053.3_Intron|COG5_ENST00000475638.2_Intron|COG5_ENST00000297135.3_Intron	NM_005295.2	NP_005286.2	Q99680	GPR22_HUMAN	G protein-coupled receptor 22	148						integral to plasma membrane	G-protein coupled receptor activity			large_intestine(3)|lung(6)|ovary(2)|stomach(1)	12						GTAAAACCTGCAAACCGAATT	0.358													A	107114948	C	A	107114948	3	1	405	1	0	0	0	0	1	0	0	0	6736	710	25	4	445	4	GPR22	7	107114948	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	7356706	107114948	52023715	26	41082											
EZH2	2146	broad.mit.edu	37	chr7	148512600	148512600	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatggaaagatgctaacccTttttcagctgtatctttctg	10	15	8	8	0	3	1	1	0	2	1	3	3	3	2	1	1	3	3	1	1	4	5			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:148512600T>C	ENST00000320356.2	-	13	1665	c.1544A>G	c.(1543-1545)aAg>aGg	p.K515R	EZH2_ENST00000483967.1_Missense_Mutation_p.K501R|EZH2_ENST00000476773.1_Missense_Mutation_p.K501R|EZH2_ENST00000541220.1_Missense_Mutation_p.K501R|EZH2_ENST00000350995.2_Missense_Mutation_p.K471R|EZH2_ENST00000478654.1_Missense_Mutation_p.K501R|EZH2_ENST00000460911.1_Missense_Mutation_p.K510R	NM_001203247.1|NM_001203248.1|NM_004456.4	NP_001190176.1|NP_001190177.1|NP_004447.2	Q15910	EZH2_HUMAN	enhancer of zeste homolog 2 (Drosophila)	510					negative regulation of retinoic acid receptor signaling pathway|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	DNA binding|histone-lysine N-methyltransferase activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(313)|kidney(3)|large_intestine(8)|liver(1)|lung(23)|parathyroid(2)|skin(3)|upper_aerodigestive_tract(3)	359	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00239)			ATGCTAACCCTTTTTCAGCTG	0.368			Mis		DLBCL								C	148512600	T	C	148512600	3	2	405	1	0	0	0	0	1	0	0	0	5376	1609	56	3	743	3	EZH2	7	148512600	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	41397652	148512600	10626063	27	41083											
HTR5A	3361	broad.mit.edu	37	chr7	154863096	154863096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtctccaacgtcatgatcGcgctcacctgggcactctcc	6	9	9	17	4	4	1	2	1	2	0	7	1	4	1	3	1	1	2	3	1	1	0			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr7:154863096G>C	ENST00000287907.2	+	1	1063	c.487G>C	c.(487-489)Gcg>Ccg	p.A163P	HTR5A-AS1_ENST00000543018.1_5'UTR|HTR5A-AS1_ENST00000493904.1_5'UTR|HTR5A-AS1_ENST00000395731.2_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	163						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CGTCATGATCGCGCTCACCTG	0.627													C	154863096	G	C	154863096	3	2	405	1	0	0	0	0	1	0	0	0	7508	1087	38	4	489	4	HTR5A	7	154863096	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	6350496	154863096	4275567	28	41084											
NAT2	10	broad.mit.edu	37	chr8	18257611	18257611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattcttgagcaccagatccGggctgttccctttgagaacc	8	11	9	13	1	1	3	0	2	1	2	3	4	3	3	4	1	2	3	4	1	1	4	rs138592670		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr8:18257611G>A	ENST00000286479.3	+	2	205	c.98G>A	c.(97-99)cGg>cAg	p.R33Q	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	33					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		CACCAGATCCGGGCTGTTCCC	0.423									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				A	18257611	G	A	18257611	3	1	405	1	0	0	0	0	1	0	0	0	10253	1116	39	1	100	1	NAT2	8	18257611	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		18257611	128106411	29	41085											
GLT6D1	360203	broad.mit.edu	37	chr9	138530972	138530972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttatatttacctgaaataaCgctcaaccaacatcagtgaa	16	12	4	9	1	2	2	2	2	0	0	2	2	2	2	2	0	4	1	2	0	8	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr9:138530972C>T	ENST00000371763.1	-	2	315	c.62G>A	c.(61-63)cGt>cAt	p.R21H		NM_182974.2	NP_892019.2	Q7Z4J2	GL6D1_HUMAN	glycosyltransferase 6 domain containing 1	21					carbohydrate metabolic process	integral to membrane	transferase activity, transferring hexosyl groups			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	15		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;4.3e-07)|Epithelial(140;1.58e-06)|all cancers(34;5.36e-05)		CCTGAAATAACGCTCAACCAA	0.264													T	138530972	C	T	138530972	3	4	405	1	0	0	0	0	1	0	0	0	6524	536	19	1	784	1	GLT6D1	9	138530972	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		138530972	2682459	30	41086											
KIAA1462	57608	broad.mit.edu	37	chr10	30315252	30315252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagtcggcattcctgaaGctcaggactctcatccgtga	8	10	12	11	2	2	2	2	2	1	0	6	4	4	4	2	3	1	2	2	3	1	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:30315252G>A	ENST00000375377.1	-	3	3926	c.3825C>T	c.(3823-3825)agC>agT	p.S1275S		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	1275										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CATTCCTGAAGCTCAGGACTC	0.612													A	30315252	G	A	30315252	2	1	405	1	0	0	0	0	0	0	0	1	8292	962	34	2		2	KIAA1462	10	30315252	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		30315252	105219495	31	41087											
CYP2C19	1557	broad.mit.edu	37	chr10	96535209	96535209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttctccctcatgacgctgCggaattttgggatggggaag	7	12	14	8	2	2	1	1	1	1	0	3	4	2	4	1	4	1	2	1	4	2	3	rs149590953		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96535209C>T	ENST00000371321.3	+	3	476	c.394C>T	c.(394-396)Cgg>Tgg	p.R132W	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	132			R -> Q (in allele CYP2C19*6; loss of activity).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	CATGACGCTGCGGAATTTTGG	0.507													T	96535209	C	T	96535209	3	4	405	1	0	0	0	0	1	0	0	0	4199	759	27	1	404	1	CYP2C19	10	96535209	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	66219957	96535209	38999538	32	41088											
CYP2C8	1558	broad.mit.edu	37	chr10	96818194	96818194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctaatgtaacttcgtgtAagagcaacatttttaagcac	13	13	6	9	1	0	1	0	0	0	1	2	1	1	1	1	0	4	4	1	0	5	7			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr10:96818194A>G	ENST00000371270.3	-	5	811	c.717T>C	c.(715-717)ctT>ctC	p.L239L	CYP2C8_ENST00000535898.1_Silent_p.L137L|CYP2C8_ENST00000539050.1_Silent_p.L153L	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	239					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	AACTTCGTGTAAGAGCAACAT	0.363													G	96818194	A	G	96818194	2	3	405	1	0	0	0	0	0	0	0	1	4200	349	13	3		3	CYP2C8	10	96818194	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08	282985	96818194	38716553	33	41089											
ANO9	338440	broad.mit.edu	37	chr11	429619	429619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaggaccacgcgggcgCgctgccgcttccagatctcc	6	6	13	16	5	1	1	0	0	1	1	3	2	2	2	4	2	2	3	4	2	0	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687													T	429619	C	T	429619	3	4	405	1	0	0	0	0	1	0	0	0	704	768	27	1	1534	1	ANO9	11	429619	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		429619	134576897	34	41090											
ZNF195	7748	broad.mit.edu	37	chr11	3380678	3380678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcgtcacatttgtagggCttctctccagtatgggtttt	6	17	9	9	1	2	0	1	0	1	0	5	0	3	0	1	2	0	4	1	2	2	7			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:3380678C>T	ENST00000354599.6	-	4	1448	c.1344G>A	c.(1342-1344)aaG>aaA	p.K448K	ZNF195_ENST00000343338.7_Silent_p.K452K|ZNF195_ENST00000528796.1_Intron|ZNF195_ENST00000399602.4_Silent_p.K520K|ZNF195_ENST00000005082.9_Silent_p.K497K|ZNF195_ENST00000526601.1_Silent_p.K501K|ZNF195_ENST00000429541.2_Silent_p.K452K	NM_001242843.1|NM_001256825.1|NM_007152.4	NP_001229772.1|NP_001243754.1|NP_009083.2	O14628	ZN195_HUMAN	zinc finger protein 195	520					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)	17		Medulloblastoma(188;0.00106)|Breast(177;0.00328)|all_neural(188;0.00681)|Ovarian(85;0.00965)		BRCA - Breast invasive adenocarcinoma(625;0.0361)|LUSC - Lung squamous cell carcinoma(625;0.2)		ATTTGTAGGGCTTCTCTCCAG	0.403													T	3380678	C	T	3380678	2	4	405	1	0	0	0	0	0	0	0	1	17859	796	28	2		2	ZNF195	11	3380678	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	2951059	3380678	131625838	35	41091											
UBQLN3	50613	broad.mit.edu	37	chr11	5530632	5530632	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggggtgggccttaaagcGctgagatatctcttccttca	8	12	11	10	2	2	1	1	1	1	1	5	2	3	1	2	3	1	1	2	3	3	4	rs143866662		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5530632G>A	ENST00000311659.4	-	2	304	c.157C>T	c.(157-159)Cgc>Tgc	p.R53C	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	53	Ubiquitin-like.									NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCTTAAAGCGCTGAGATATC	0.507													A	5530632	G	A	5530632	3	1	405	1	0	0	0	0	1	0	0	0	17000	1087	38	1	1814	1	UBQLN3	11	5530632	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	2149954	5530632	129475884	36	41092											
OR52N2	390077	broad.mit.edu	37	chr11	5841699	5841699	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgtcgtggggaactGtgggctcatctgcctcatca	6	12	12	11	1	4	0	3	0	1	0	5	1	4	1	1	3	3	2	1	3	1	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5841699G>C	ENST00000317037.2	+	1	156	c.134G>C	c.(133-135)tGt>tCt	p.C45S	TRIM5_ENST00000380027.1_Intron	NM_001005174.1	NP_001005174.1	Q8NGI0	O52N2_HUMAN	olfactory receptor, family 52, subfamily N, member 2	45					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|urinary_tract(1)	32		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.49e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GTGGGGAACTGTGGGCTCATC	0.547													C	5841699	G	C	5841699	3	2	405	1	0	0	0	0	1	0	0	0	11204	1377	48	4	136	4	OR52N2	11	5841699	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	311067	5841699	129164817	37	41093											
OR52E4	390081	broad.mit.edu	37	chr11	5906225	5906225	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttccctctcaagatgtcCgactaaaggccttcaatacc	10	10	6	15	1	2	1	2	0	1	1	5	2	4	1	5	1	1	0	5	1	5	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:5906225C>T	ENST00000316987.2	+	1	725	c.703C>T	c.(703-705)Cga>Tga	p.R235*		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCAAGATGTCCGACTAAAGGC	0.398													T	5906225	C	T	5906225	4	4	405	1	0	0	0	0	0	1	0	0	11192	644	23	1	705	1	OR52E4	11	5906225	Nonsense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	64526	5906225	129100291	38	41094											
TSG101	7251	broad.mit.edu	37	chr11	18505466	18505466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccagtttctggtgacccTttttcaggtcttcttctgtt	3	20	7	11	0	5	1	1	1	4	0	6	1	6	1	2	2	0	2	2	2	0	7			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr11:18505466T>C	ENST00000536719.1	-	8	928	c.794A>G	c.(793-795)aAg>aGg	p.K265R	TSG101_ENST00000357193.3_Missense_Mutation_p.K160R|TSG101_ENST00000251968.3_Missense_Mutation_p.K265R			Q99816	TS101_HUMAN	tumor susceptibility 101	265					cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTGGTGACCCTTTTTCAGGTC	0.438													C	18505466	T	C	18505466	3	2	405	1	0	0	0	0	1	0	0	0	16717	1609	56	3	390	3	TSG101	11	18505466	Missense_Mutation	SNP	T	TCGA-DU-8161-01A-11D-2253-08	12599241	18505466	116501050	39	41095											
AVPR1A	552	broad.mit.edu	37	chr12	63543919	63543919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgaagccgtagcaggtaCccaagatgaccacgggcgcc	12	4	13	12	3	0	4	0	2	0	2	0	4	0	4	4	2	3	3	4	2	4	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:63543919C>T	ENST00000299178.2	-	1	803	c.698G>A	c.(697-699)gGt>gAt	p.G233D		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	233					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTAGCAGGTACCCAAGATGAC	0.642													T	63543919	C	T	63543919	3	4	405	1	0	0	0	0	1	0	0	0	1236	507	18	2	566	2	AVPR1A	12	63543919	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08		63543919	70307976	40	41096											
PAH	5053	broad.mit.edu	37	chr12	103249024	103249025	+	Frame_Shift_Ins	INS	-	-	C																															ctcatagcaagcatgggtttINStatacaaggacttcagagtc																								rs63749676		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr12:103249024_103249025insC	ENST00000553106.1	-	6	1067_1068	c.595_596insG	c.(595-597)aaafs	p.K199fs	PAH_ENST00000307000.2_Frame_Shift_Ins_p.K194fs	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	199					catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	AGCATGGGTTTTATACAAGGAC	0.446													C	103249025	-	C	103249024	7	5	405	1	0	1	1	0	0	0	0	0	11470	1841	64	0	794	0	PAH	12	103249024	Frame_Shift_Ins	INS	-	TCGA-DU-8161-01A-11D-2253-08	39705105	103249024	30602871	41	41097											
FLVCR2	55640	broad.mit.edu	37	chr14	76101273	76101273	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaagaagtgaatgctggAagaattggcctgacgatcgt	12	8	16	5	2	0	4	0	2	0	2	1	7	0	6	1	4	1	1	1	4	5	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:76101273A>G	ENST00000238667.4	+	5	1397	c.1041A>G	c.(1039-1041)ggA>ggG	p.G347G	FLVCR2_ENST00000556241.1_3'UTR|FLVCR2_ENST00000555027.1_Silent_p.G62G|FLVCR2_ENST00000539311.1_Silent_p.G142G|FLVCR2_ENST00000553587.1_Silent_p.G95G|FLVCR2_ENST00000556856.1_Intron	NM_017791.2	NP_060261.2	Q9UPI3	FLVC2_HUMAN	feline leukemia virus subgroup C cellular receptor family, member 2	347					transmembrane transport	integral to membrane|plasma membrane	heme binding|heme transporter activity	p.G347G(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGAATGCTGGAAGAATTGGCC	0.527													G	76101273	A	G	76101273	2	3	405	1	0	0	0	0	0	0	0	1	5995	233	9	3		3	FLVCR2	14	76101273	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		76101273	31248267	42	41098											
PTPN21	11099	broad.mit.edu	37	chr14	89016587	89016587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttaggtggcttacctcccGcagctccagcctctgggcca	5	10	10	16	1	1	0	0	0	1	0	3	0	3	0	5	3	3	3	5	3	2	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr14:89016587G>A	ENST00000556564.1	-	2	459	c.175C>T	c.(175-177)Cgg>Tgg	p.R59W	PTPN21_ENST00000554628.1_5'UTR|PTPN21_ENST00000328736.3_Missense_Mutation_p.R59W	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	59	FERM.					cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTTACCTCCCGCAGCTCCAGC	0.607													A	89016587	G	A	89016587	3	1	405	1	0	0	0	0	1	0	0	0	12874	1086	38	1	3421	1	PTPN21	14	89016587	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	12915314	89016587	18332953	43	41099											
CHRNB4	1143	broad.mit.edu	37	chr15	78921630	78921630	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggaaggtaggcagcttGtgcaggaagcagcgcttgac	12	6	16	7	1	0	2	0	1	0	1	0	4	0	4	0	4	4	6	0	4	4	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:78921630G>T	ENST00000261751.3	-	5	1128	c.1017C>A	c.(1015-1017)caC>caA	p.H339Q	CHRNB4_ENST00000412074.2_Intron	NM_000750.3	NP_000741.1	P30926	ACHB4_HUMAN	cholinergic receptor, nicotinic, beta 4 (neuronal)	339					regulation of neurotransmitter secretion|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(7)|kidney(1)|lung(13)|prostate(1)	22						TAGGCAGCTTGTGCAGGAAGC	0.642													T	78921630	G	T	78921630	3	4	405	1	0	0	0	0	1	0	0	0	3423	1368	48	4	487	4	CHRNB4	15	78921630	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08		78921630	23609762	44	41100											
RASGRF1	5923	broad.mit.edu	37	chr15	79277481	79277481	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctacggccacccacttctcGatggcgctcaccctggcgtt	5	9	10	17	4	2	0	1	0	1	0	3	1	2	0	3	3	1	3	3	3	1	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr15:79277481G>A	ENST00000419573.3	-	24	3604	c.3330C>T	c.(3328-3330)atC>atT	p.I1110I	RP11-16K12.1_ENST00000316148.4_RNA|RASGRF1_ENST00000394745.3_Silent_p.I326I|RASGRF1_ENST00000558480.2_Silent_p.I1094I|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	1112	Ras-GEF.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCCACTTCTCGATGGCGCTCA	0.517													A	79277481	G	A	79277481	2	1	405	1	0	0	0	0	0	0	0	1	13160	1048	37	1		1	RASGRF1	15	79277481	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08	355851	79277481	23253911	45	41101											
C17orf97	400566	broad.mit.edu	37	chr17	263306	263306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccgacgccctcaagggCttccaccccgaccccgaggc	7	3	10	21	4	1	0	1	0	0	0	2	4	2	0	8	2	0	1	8	2	1	1	rs111797689		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:263306C>T	ENST00000360127.6	+	2	688	c.672C>T	c.(670-672)ggC>ggT	p.G224G	AC108004.3_ENST00000466740.2_RNA|C17orf97_ENST00000571106.1_Intron	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	224	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.									breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						CCCTCAAGGGCTTCCACCCCG	0.697													T	263306	C	T	263306	2	4	405	1	0	0	0	0	0	0	0	1	1910	784	28	2		2	C17orf97	17	263306	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		263306	80931904	46	41102											
ANKFY1	51479	broad.mit.edu	37	chr17	4088255	4088255	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagagcttcctccgtctgCaggtttgggttggcgccttg	3	12	15	11	2	1	1	0	0	1	1	3	1	3	1	3	4	2	5	3	4	0	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:4088255C>G	ENST00000341657.4	-	12	1592	c.1557G>C	c.(1555-1557)ctG>ctC	p.L519L	ANKFY1_ENST00000574367.1_Silent_p.L519L|ANKFY1_ENST00000570535.1_Silent_p.L561L|ANKFY1_ENST00000573722.1_5'UTR|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	519						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						CCTCCGTCTGCAGGTTTGGGT	0.622													G	4088255	C	G	4088255	2	3	405	1	0	0	0	0	0	0	0	1	626	697	25	4		4	ANKFY1	17	4088255	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08	3824949	4088255	77106955	47	41103											
KCNJ2	3759	broad.mit.edu	37	chr17	68171457	68171457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttctgcctggctttcGtcctgtcatggctgtttttt	2	21	8	10	1	3	0	1	0	2	0	5	0	4	0	2	2	1	3	2	2	1	6	rs147750704		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr17:68171457G>A	ENST00000243457.3	+	2	660	c.277G>A	c.(277-279)Gtc>Atc	p.V93I	KCNJ2_ENST00000535240.1_Missense_Mutation_p.V93I	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	93					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					CCTGGCTTTCGTCCTGTCATG	0.537													A	68171457	G	A	68171457	3	1	405	1	0	0	0	0	1	0	0	0	8109	1145	40	1	279	1	KCNJ2	17	68171457	Missense_Mutation	SNP	G	TCGA-DU-8161-01A-11D-2253-08	64083202	68171457	13023753	48	41104											
ALPK2	115701	broad.mit.edu	37	chr18	56246388	56246388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggatttcccttcattccCggctgcctcaccctggcaga	5	12	9	15	1	2	1	2	0	0	1	4	2	4	2	4	3	1	2	4	3	0	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr18:56246388C>T	ENST00000361673.3	-	4	1833	c.1620G>A	c.(1618-1620)ccG>ccA	p.P540P	ALPK2_ENST00000587399.1_5'UTR	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	540							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CCTTCATTCCCGGCTGCCTCA	0.542											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56246388	C	T	56246388	2	4	405	1	0	0	0	0	0	0	0	1	545	639	23	1		1	ALPK2	18	56246388	Silent	SNP	C	TCGA-DU-8161-01A-11D-2253-08		56246388	21830860	49	41105											
AES	166	broad.mit.edu	37	chr19	3061202	3061202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaaattcgtctttgatgcgGtcgcaggagtccgaggtggt	7	12	15	7	4	1	2	0	2	1	0	4	4	2	3	1	4	1	1	1	4	1	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:3061202G>A	ENST00000221561.8	-	2	461	c.282C>T	c.(280-282)gaC>gaT	p.D94D	AES_ENST00000327141.4_Silent_p.D27D|AES_ENST00000592330.1_5'UTR|AES_ENST00000586839.1_5'UTR	NM_198969.1	NP_945320.1	Q08117	AES_HUMAN	amino-terminal enhancer of split	27	Gln-rich (Q domain).				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of response to cytokine stimulus|negative regulation of transcription from RNA polymerase II promoter|organ morphogenesis|response to interleukin-1|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			lung(8)	8		Hepatocellular(1079;0.137)		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)		CTTTGATGCGGTCGCAGGAGT	0.627													A	3061202	G	A	3061202	2	1	405	1	0	0	0	0	0	0	0	1	352	1252	44	2		2	AES	19	3061202	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		3061202	56067781	50	41106											
FBN3	84467	broad.mit.edu	37	chr19	8136967	8136967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcactgcgtcgtggccggtCccgaggggagaggccattga	6	6	18	11	4	0	2	0	1	0	1	2	4	1	2	3	6	1	1	3	6	0	1			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:8136967C>A	ENST00000600128.1	-	63	8467	c.8053G>T	c.(8053-8055)Gac>Tac	p.D2685Y	FBN3_ENST00000601739.1_Missense_Mutation_p.D2685Y|FBN3_ENST00000270509.2_Missense_Mutation_p.D2685Y			Q75N90	FBN3_HUMAN	fibrillin 3	2685						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						CGTGGCCGGTCCCGAGGGGAG	0.642													A	8136967	C	A	8136967	3	1	405	1	0	0	0	0	1	0	0	0	5753	855	30	4	384	4	FBN3	19	8136967	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	5075765	8136967	50992016	51	41107											
ZNF546	339327	broad.mit.edu	37	chr19	40521374	40521374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggaaagacctttagtcgtCggtatcatcttactcaacat	11	13	8	9	2	3	1	2	0	1	1	5	2	3	2	1	2	2	1	1	2	5	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:40521374C>T	ENST00000347077.4	+	7	2413	c.2197C>T	c.(2197-2199)Cgg>Tgg	p.R733W	ZNF546_ENST00000596894.1_Intron|ZNF546_ENST00000600094.1_Missense_Mutation_p.R707W	NM_178544.3	NP_848639.2	Q86UE3	ZN546_HUMAN	zinc finger protein 546	733					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(15)|lung(6)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	34	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					CTTTAGTCGTCGGTATCATCT	0.378													T	40521374	C	T	40521374	3	4	405	1	0	0	0	0	1	0	0	0	18079	875	31	1	2215	1	ZNF546	19	40521374	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	32384407	40521374	18607609	52	41108											
IGFL2	147920	broad.mit.edu	37	chr19	46664038	46664038	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctgctttgagctctgctgtCttgattcctttggcctcaca	4	16	8	13	0	3	2	1	2	2	0	4	2	4	2	3	1	3	3	3	1	0	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:46664038C>G	ENST00000434646.2	+	4	565	c.274C>G	c.(274-276)Ctt>Gtt	p.L92V	AC007193.6_ENST00000597989.1_lincRNA|IGFL2_ENST00000377693.4_Missense_Mutation_p.L81V|IGFL2_ENST00000600243.1_3'UTR	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	81						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		GCTCTGCTGTCTTGATTCCTT	0.527													G	46664038	C	G	46664038	3	3	405	1	0	0	0	0	1	0	0	0	7645	913	32	4	307	4	IGFL2	19	46664038	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	6142664	46664038	12464945	53	41109											
HAS1	3036	broad.mit.edu	37	chr19	52220447	52220447	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtccgagtcacagacCtgtaaggtggaaggggccag	9	8	15	9	1	1	1	1	0	0	1	2	3	2	2	3	4	0	1	3	4	2	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:52220447C>T	ENST00000540069.2	-	3	760		c.e3-1		HAS1_ENST00000222115.1_Splice_Site|HAS1_ENST00000601714.1_Splice_Site|HAS1_ENST00000594621.1_Splice_Site			Q92839	HAS1_HUMAN	hyaluronan synthase 1						cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		AGTCACAGACCTGTAAGGTGG	0.622													T	52220447	C	T	52220447	5	4	405	1	0	0	0	0	0	0	1	0	7016	695	24	2	1046	2	HAS1	19	52220447	Splice_Site	SNP	C	TCGA-DU-8161-01A-11D-2253-08	5556409	52220447	6908536	54	41110											
LILRA3	11026	broad.mit.edu	37	chr19	54802564	54802564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accggagcatgtgtactggcCcccgtaggagcggctcacag	8	6	14	13	3	1	0	1	0	0	0	1	2	1	2	3	4	3	4	3	4	2	2			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr19:54802564C>T	ENST00000391745.1	-	9	1244	c.928G>A	c.(928-930)Ggc>Agc	p.G310S	LILRA3_ENST00000391744.3_Missense_Mutation_p.G229S|LILRA3_ENST00000251390.3_Missense_Mutation_p.G293S					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3											NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GTGTACTGGCCCCCGTAGGAG	0.682													T	54802564	C	T	54802564	3	4	405	1	0	0	0	0	1	0	0	0	8846	623	22	2	454	2	LILRA3	19	54802564	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	2582117	54802564	4326419	55	41111											
TM9SF4	9777	broad.mit.edu	37	chr20	30723918	30723918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgaacccagctaccttatgaAtactattcactgcccttctg	10	12	5	14	1	2	1	1	1	1	0	2	2	2	1	3	0	5	1	3	0	6	6			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:30723918A>G	ENST00000217315.5	+	3	460	c.120A>G	c.(118-120)gaA>gaG	p.E40E	TM9SF4_ENST00000398022.2_Silent_p.E57E			Q92544	TM9S4_HUMAN	transmembrane 9 superfamily protein member 4	57						integral to membrane				central_nervous_system(2)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TACCTTATGAATACTATTCAC	0.512													G	30723918	A	G	30723918	2	3	405	1	0	0	0	0	0	0	0	1	16080	98	4	3		3	TM9SF4	20	30723918	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		30723918	32301602	56	41112											
PLCG1	5335	broad.mit.edu	37	chr20	39795452	39795452	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctataccgcaagatgaagCtgcgctatcccatcaacgag	12	7	9	13	4	1	2	1	1	0	1	2	3	2	2	2	0	4	4	2	0	6	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr20:39795452C>G	ENST00000373272.2	+	19	2659	c.2254C>G	c.(2254-2256)Ctg>Gtg	p.L752V	PLCG1_ENST00000373271.1_Missense_Mutation_p.L752V|PLCG1_ENST00000244007.3_Missense_Mutation_p.L752V	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	752	SH2 2.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				CAAGATGAAGCTGCGCTATCC	0.572													G	39795452	C	G	39795452	3	3	405	1	0	0	0	0	1	0	0	0	12112	796	28	4	2328	4	PLCG1	20	39795452	Missense_Mutation	SNP	C	TCGA-DU-8161-01A-11D-2253-08	9071534	39795452	23230068	57	41113											
ERG	2078	broad.mit.edu	37	chr21	39755664	39755664	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtagtaacggagggcGcggctgagcttatcgtagtt	9	11	14	7	4	1	1	1	1	0	0	2	2	1	2	0	3	2	6	0	3	5	6	rs143039786		TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chr21:39755664G>A	ENST00000442448.1	-	11	1321	c.1050C>T	c.(1048-1050)cgC>cgT	p.R350R	ERG_ENST00000417133.2_Silent_p.R374R|ERG_ENST00000453032.2_Silent_p.R275R|ERG_ENST00000398911.1_Silent_p.R350R|ERG_ENST00000398897.1_Silent_p.R251R|ERG_ENST00000398907.1_Silent_p.R344R|ERG_ENST00000288319.7_Silent_p.R367R|ERG_ENST00000398910.1_Silent_p.R351R|ERG_ENST00000398905.1_Silent_p.R343R|ERG_ENST00000398919.2_Silent_p.R374R	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	374					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AACGGAGGGCGCGGCTGAGCT	0.592			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39755664	G	A	39755664	2	1	405	1	0	0	0	0	0	0	0	1	5263	1074	38	1		1	ERG	21	39755664	Silent	SNP	G	TCGA-DU-8161-01A-11D-2253-08		39755664	8374231	58	41114											
FTSJ1	24140	broad.mit.edu	37	chrX	48337056	48337056	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgcaggctatggctccActaccaggtgtggtacagat	9	9	12	11	0	0	1	0	0	0	1	1	2	1	1	3	4	3	4	3	4	3	3			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:48337056A>G	ENST00000019019.2	+	5	672	c.243A>G	c.(241-243)ccA>ccG	p.P81P	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Silent_p.P81P|FTSJ1_ENST00000348411.2_Silent_p.P81P	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	81					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CTATGGCTCCACTACCAGGTG	0.617													G	48337056	A	G	48337056	2	3	405	1	0	0	0	0	0	0	0	1	6139	146	6	3		3	FTSJ1	23	48337056	Silent	SNP	A	TCGA-DU-8161-01A-11D-2253-08		48337056	106933504	59	41115											
LAS1L	81887	broad.mit.edu	37	chrX	64752492	64752492	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaactttgtcttcctctcTgagataagattcacaaacct	12	13	5	11	0	3	2	1	1	2	2	5	3	4	2	2	0	2	1	2	0	3	4			TCGA-DU-8161-01A-11D-2253-08	TCGA-DU-8161-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	54d2b413-5a8a-43c7-b8dc-60d3ebd5afce	aea196d9-761d-4e84-b568-ad9c58926643	g.chrX:64752492T>C	ENST00000374811.3	-	3	421	c.381A>G	c.(379-381)tcA>tcG	p.S127S	LAS1L_ENST00000374804.5_Silent_p.S85S|LAS1L_ENST00000374807.5_Silent_p.S127S|LAS1L_ENST00000312391.8_Silent_p.S127S	NM_031206.4	NP_112483.1	Q9Y4W2	LAS1L_HUMAN	LAS1-like (S. cerevisiae)	127						MLL1 complex|nucleolus	protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	33						TCTTCCTCTCTGAGATAAGAT	0.463													C	64752492	T	C	64752492	2	2	405	1	0	0	0	0	0	0	0	1	8695	1567	55	3		3	LAS1L	23	64752492	Silent	SNP	T	TCGA-DU-8161-01A-11D-2253-08	16415436	64752492	90518068	60	41116											
MACF1	23499	broad.mit.edu	37	chr1	39900289	39900289	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgagcagctcaggcagcaAcaagaggaaatgagggtaag	16	4	14	7	0	1	3	1	2	0	1	1	4	1	4	0	3	4	5	0	3	4	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:39900289A>G	ENST00000564288.1	+	69	18546	c.17769A>G	c.(17767-17769)caA>caG	p.Q5923Q	MACF1_ENST00000539005.1_Silent_p.Q3731Q|MACF1_ENST00000317713.7_Silent_p.Q3861Q|MACF1_ENST00000372915.3_Silent_p.Q5819Q|MACF1_ENST00000289893.4_Silent_p.Q4363Q|MACF1_ENST00000567887.1_Silent_p.Q5960Q|MACF1_ENST00000361689.2_Silent_p.Q3861Q|MACF1_ENST00000545844.1_Silent_p.Q3861Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5920					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCAGGCAGCAACAAGAGGAAA	0.413													G	39900289	A	G	39900289	2	3	406	1	0	0	0	0	0	0	0	1	9215	40	2	3		3	MACF1	1	39900289	Silent	SNP	A	TCGA-DU-8162-01A-21D-2253-08		39900289	209350332	1	41117											
FLG	2312	broad.mit.edu	37	chr1	152280001	152280001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcctgaccctcttgggacGttgagtgcctggagctgtct	4	13	13	11	1	2	2	0	2	2	0	3	4	3	4	3	2	2	2	3	2	0	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152280001G>C	ENST00000368799.1	-	3	7396	c.7361C>G	c.(7360-7362)aCg>aGg	p.T2454R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2454	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTTGGGACGTTGAGTGCCT	0.582									Ichthyosis				C	152280001	G	C	152280001	3	2	406	1	0	0	0	0	1	0	0	0	5971	1145	40	4	4828	4	FLG	1	152280001	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	112379712	152280001	96970620	2	41118											
KPRP	448834	broad.mit.edu	37	chr1	152732631	152732631	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtatcaaggctcctatagCagttgtggcccccagtttca	9	11	9	12	0	2	0	2	0	0	0	3	0	3	0	3	2	1	5	3	2	4	5			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:152732631C>A	ENST00000368773.1	+	2	625	c.567C>A	c.(565-567)agC>agA	p.S189R	KPRP_ENST00000606109.1_Missense_Mutation_p.S189R	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	189	Gln-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			GCTCCTATAGCAGTTGTGGCC	0.562													A	152732631	C	A	152732631	3	1	406	1	0	0	0	0	1	0	0	0	8494	709	25	4	569	4	KPRP	1	152732631	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	452630	152732631	96517990	3	41119											
HMCN1	83872	broad.mit.edu	37	chr1	186055385	186055385	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactattatagttcctccAagtgtcattggtcctaaatc	10	17	5	9	0	1	0	1	0	0	0	5	0	4	0	3	1	1	1	3	1	7	8			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:186055385A>T	ENST00000271588.4	+	58	9121	c.8892A>T	c.(8890-8892)ccA>ccT	p.P2964P	HMCN1_ENST00000367492.2_Silent_p.P2964P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2964	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAGTTCCTCCAAGTGTCATTG	0.368													T	186055385	A	T	186055385	2	4	406	1	0	0	0	0	0	0	0	1	7275	117	5	5		5	HMCN1	1	186055385	Silent	SNP	A	TCGA-DU-8162-01A-21D-2253-08	33322754	186055385	63195236	4	41120											
C4BPA	722	broad.mit.edu	37	chr1	207297690	207297690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaacaataggtgtttggagaCcaagccctcctacctgtgaa	13	9	9	10	0	0	2	0	1	0	1	1	3	1	2	4	2	3	1	4	2	6	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr1:207297690C>A	ENST00000367070.3	+	6	879	c.685C>A	c.(685-687)Cca>Aca	p.P229T		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	229	Sushi 3.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGTTTGGAGACCAAGCCCTCC	0.428													A	207297690	C	A	207297690	3	1	406	1	0	0	0	0	1	0	0	0	2271	507	18	4	703	4	C4BPA	1	207297690	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	21242305	207297690	41952931	5	41121											
SNRNP200	23020	broad.mit.edu	37	chr2	96970469	96970469	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctttcctcctgcatctgCggtttggtccgttgagcctt	2	17	9	13	2	2	1	0	1	2	0	5	1	5	1	4	2	3	3	4	2	0	5			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:96970469C>T	ENST00000323853.5	-	2	260	c.183G>A	c.(181-183)ccG>ccA	p.P61P	SNRNP200_ENST00000349783.5_Silent_p.P61P	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	61						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						CCTGCATCTGCGGTTTGGTCC	0.527													T	96970469	C	T	96970469	2	4	406	1	0	0	0	0	0	0	0	1	14946	755	27	1		1	SNRNP200	2	96970469	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		96970469	146228904	6	41122											
FARP2	9855	broad.mit.edu	37	chr2	242432832	242432832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcccacgtctacttcttccGggctgagagcaagtacacat	10	10	8	13	2	2	1	0	1	2	1	4	2	4	1	2	1	3	3	2	1	3	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr2:242432832G>A	ENST00000264042.3	+	26	3190	c.3020G>A	c.(3019-3021)cGg>cAg	p.R1007Q	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1007	PH 2.				axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity	p.R1007Q(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TACTTCTTCCGGGCTGAGAGC	0.527													A	242432832	G	A	242432832	3	1	406	1	0	0	0	0	1	0	0	0	5726	1116	39	1	3118	1	FARP2	2	242432832	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	145462363	242432832	766541	7	41123											
C3orf30	152405	broad.mit.edu	37	chr3	118865808	118865808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagaccttccgtacagAttgaccgcagaatgtcaggg	13	7	10	11	2	1	4	1	1	0	3	2	4	2	4	4	1	1	2	4	1	3	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr3:118865808A>G	ENST00000295622.1	+	1	812	c.772A>G	c.(772-774)Att>Gtt	p.I258V		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	258										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		TTCCGTACAGATTGACCGCAG	0.502													G	118865808	A	G	118865808	3	3	406	1	0	0	0	0	1	0	0	0	2241	333	12	3	774	3	C3orf30	3	118865808	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08		118865808	79156622	8	41124											
PIGG	54872	broad.mit.edu	37	chr4	527753	527753	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccacttagtgcacttcctGagctcagaaacacgcaggtg	11	8	10	12	1	1	2	1	1	0	1	2	2	2	2	2	1	4	3	2	1	2	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:527753G>A	ENST00000453061.2	+	12	2824	c.2718G>A	c.(2716-2718)ctG>ctA	p.L906L	PIGG_ENST00000310340.5_Silent_p.L898L|PIGG_ENST00000383028.4_Silent_p.L773L|PIGG_ENST00000504346.1_Silent_p.L817L|PIGG_ENST00000296306.7_3'UTR	NM_001127178.1	NP_001120650.1	Q5H8A4	PIGG_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class G	906					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						TGCACTTCCTGAGCTCAGAAA	0.597													A	527753	G	A	527753	2	1	406	1	0	0	0	0	0	0	0	1	11965	1277	45	2		2	PIGG	4	527753	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		527753	190626523	9	41125											
RUFY3	22902	broad.mit.edu	37	chr4	71588247	71588247	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttggtgtgtgtgtgtgagTgtgtgtgtgtctgtgtgtgt	1	21	18	1	0	1	1	0	1	1	0	1	1	1	1	0	1	0	0	0	1	0	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:71588247T>A	ENST00000226328.4	+	0	520				RUFY3_ENST00000417478.2_Intron|RUFY3_ENST00000381006.3_De_novo_Start_OutOfFrame	NM_014961.3	NP_055776.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3						negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			tgtgtgtgagtgtgtgtgtgt	0.478													A	71588247	T	A	71588247	1	1	406	1	0	0	0	0	0	0	0	0	13831	1711	59	5		5	RUFY3	4	71588247	Translation_Start_Site	SNP	T	TCGA-DU-8162-01A-21D-2253-08	71060494	71588247	119566029	10	41126											
ADH1A	124	broad.mit.edu	37	chr4	100208046	100208046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttctccaacactctccaCgatgccggctgcctcatggc	6	9	7	19	2	3	0	1	0	2	0	5	1	3	0	5	2	3	1	5	2	1	1	rs141454408		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr4:100208046C>T	ENST00000209668.2	-	3	333	c.220G>A	c.(220-222)Gtg>Atg	p.V74M	ADH1A_ENST00000511656.1_5'UTR|RP11-696N14.1_ENST00000500358.2_RNA	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	74					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	ACACTCTCCACGATGCCGGCT	0.507													T	100208046	C	T	100208046	3	4	406	1	0	0	0	0	1	0	0	0	307	536	19	1	935	1	ADH1A	4	100208046	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	28619799	100208046	90946230	11	41127											
TAS2R1	50834	broad.mit.edu	37	chr5	9629469	9629469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggatagacagcaacgCgctgatgggtgcacccctgc	10	5	14	12	2	0	2	0	1	0	1	0	4	0	4	2	3	4	3	2	3	2	1	rs145804099		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:9629469C>T	ENST00000382492.2	-	1	994	c.676G>A	c.(676-678)Gcg>Acg	p.A226T	CTD-2001E22.1_ENST00000504182.2_RNA	NM_019599.2	NP_062545.1	Q9NYW7	TA2R1_HUMAN	taste receptor, type 2, member 1	226					chemosensory behavior|sensory perception of taste	integral to membrane	taste receptor activity	p.A226S(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(19)|ovary(3)|prostate(1)|skin(1)|stomach(1)	39						GACAGCAACGCGCTGATGGGT	0.498													T	9629469	C	T	9629469	3	4	406	1	0	0	0	0	1	0	0	0	15662	768	27	1	227	1	TAS2R1	5	9629469	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		9629469	171285791	12	41128											
NMUR2	56923	broad.mit.edu	37	chr5	151772005	151772005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatgctgcctggaagcggCgagacagtaggttatagata	12	8	15	6	2	0	2	0	0	0	2	0	5	0	4	1	4	3	3	1	4	6	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr5:151772005C>T	ENST00000255262.3	-	4	1160	c.995G>A	c.(994-996)cGc>cAc	p.R332H		NM_020167.4	NP_064552.3	Q9GZQ4	NMUR2_HUMAN	neuromedin U receptor 2	332					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|arachidonic acid secretion|calcium ion transport|central nervous system development|elevation of cytosolic calcium ion concentration|regulation of smooth muscle contraction	integral to membrane|plasma membrane	GTP binding|intracellular calcium activated chloride channel activity|neuromedin U receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(12)|liver(1)|lung(15)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	44		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)	Kidney(363;0.000106)|KIRC - Kidney renal clear cell carcinoma(527;0.000672)			CTGGAAGCGGCGAGACAGTAG	0.493													T	151772005	C	T	151772005	3	4	406	1	0	0	0	0	1	0	0	0	10583	768	27	1	256	1	NMUR2	5	151772005	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	142142536	151772005	29143255	13	41129											
FOXQ1	94234	broad.mit.edu	37	chr6	1313285	1313285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcagcaagccatatacgCggcggcccaagcccccctac	10	3	9	19	4	0	0	0	0	0	0	0	0	0	0	5	2	5	2	5	2	5	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:1313285C>T	ENST00000296839.2	+	1	611	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	116					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		GCCATATACGCGGCGGCCCAA	0.746													T	1313285	C	T	1313285	3	4	406	1	0	0	0	0	1	0	0	0	6081	759	27	1	348	1	FOXQ1	6	1313285	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		1313285	169801782	14	41130											
MRS2	57380	broad.mit.edu	37	chr6	24412567	24412567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctggagagggtcaactcGttacataccctttacctttt	8	15	8	10	1	2	1	1	0	1	1	3	2	2	1	2	2	4	1	2	2	4	6			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:24412567G>A	ENST00000378386.3	+	5	625	c.532G>A	c.(532-534)Gtt>Att	p.V178I	MRS2_ENST00000443868.2_Missense_Mutation_p.V181I|MRS2_ENST00000535061.1_Missense_Mutation_p.V128I|MRS2_ENST00000378353.1_Missense_Mutation_p.V178I|MRS2_ENST00000543597.1_5'UTR|MRS2_ENST00000274747.7_3'UTR|MRS2_ENST00000483634.1_3'UTR	NM_020662.2	NP_065713.1	Q9HD23	MRS2_HUMAN	MRS2 magnesium transporter	178					ion transport	integral to membrane|mitochondrial inner membrane		p.V178I(1)		breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12						GGGTCAACTCGTTACATACCC	0.388													A	24412567	G	A	24412567	3	1	406	1	0	0	0	0	1	0	0	0	9927	1145	40	1	550	1	MRS2	6	24412567	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	23099282	24412567	146702500	15	41131											
SRF	6722	broad.mit.edu	37	chr6	43139485	43139487	+	In_Frame_Del	DEL	GGC	GGC	-																															ggaccccgacggggcggccgGgcggcggcggcgggacacgc																										TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:43139485_43139487delGGC	ENST00000265354.4	+	1	449_451	c.91_93delGGC	c.(91-93)ggcdel	p.G35del		NM_003131.2	NP_003122.1	P11831	SRF_HUMAN	serum response factor (c-fos serum response element-binding transcription factor)	35	Gly-rich.				angiogenesis involved in wound healing|cell migration involved in sprouting angiogenesis|cellular senescence|heart looping|muscle cell homeostasis|neuron development|positive regulation of cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription via serum response element binding|regulation of smooth muscle cell differentiation|response to cytokine stimulus|response to hormone stimulus|response to toxin|transcription from RNA polymerase II promoter|trophectodermal cell differentiation	endoplasmic reticulum	protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|serum response element binding|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	12			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.011)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ggggcggccgggcggcggcggcg	0.818													-	43139487	GGC	-	43139485	7	5	406	1	0	1	0	1	0	0	0	0	15239	1232	43	0	93	0	SRF	6	43139485	In_Frame_Del	DEL	GGC	TCGA-DU-8162-01A-21D-2253-08	18726918	43139485	127975582	16	41132											
SLC22A16	85413	broad.mit.edu	37	chr6	110778136	110778136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgcagacatgatgaggggtGactcccatgaacacagaagc	13	6	12	10	0	0	6	0	4	0	2	1	6	1	6	1	2	3	1	1	2	2	0			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:110778136G>A	ENST00000368919.3	-	2	204	c.138C>T	c.(136-138)gtC>gtT	p.V46V	SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000330550.4_Silent_p.V44V|SLC22A16_ENST00000456137.2_Silent_p.V46V|SLC22A16_ENST00000439654.1_Silent_p.V46V	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	46					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		GATGAGGGGTGACTCCCATGA	0.473													A	110778136	G	A	110778136	2	1	406	1	0	0	0	0	0	0	0	1	14541	1277	45	2		2	SLC22A16	6	110778136	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	67638651	110778136	60336931	17	41133											
HBS1L	10767	broad.mit.edu	37	chr6	135376554	135376554	+	RNA	DEL	C	C	-																															agaggctgaggtgggaggatCccctgagcccaggcggtcga																										TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr6:135376554delC	ENST00000447508.1	+	0	384																											gtgggaggatcccctgagccc	0.547													-	135376554	C	-	135376554	6	5	406	0	1	1	0	1	0	0	0	0	7042	870	30	0		0	HBS1L	6	135376554	RNA	DEL	C	TCGA-DU-8162-01A-21D-2253-08	24598418	135376554	35738513	18	41134											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	406	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		55233043	103905620	19	41135											
FBXO24	26261	broad.mit.edu	37	chr7	100187922	100187922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtcgcagactcagtccGcgcctccaagatcagggttc	8	9	10	14	3	3	2	2	0	1	2	7	2	5	2	3	1	0	2	3	1	1	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:100187922G>A	ENST00000241071.6	+	3	586	c.264G>A	c.(262-264)ccG>ccA	p.P88P	FBXO24_ENST00000468962.1_Silent_p.P76P|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.P88P|FBXO24_ENST00000465843.1_Silent_p.P88P|FBXO24_ENST00000498195.1_3'UTR|FBXO24_ENST00000427939.2_Silent_p.P126P	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	88						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GACTCAGTCCGCGCCTCCAAG	0.602													A	100187922	G	A	100187922	2	1	406	1	0	0	0	0	0	0	0	1	5784	1074	38	1		1	FBXO24	7	100187922	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	44954879	100187922	58950741	20	41136											
FLNC	2318	broad.mit.edu	37	chr7	128490958	128490958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacccactgagaaaggcctgCaccagatggggatcaagtat	13	6	11	11	0	1	2	1	1	0	2	1	4	1	3	3	3	1	2	3	3	3	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr7:128490958C>T	ENST00000325888.8	+	33	5761	c.5500C>T	c.(5500-5502)Cac>Tac	p.H1834Y	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.H1801Y	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1834					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAAAGGCCTGCACCAGATGGG	0.617													T	128490958	C	T	128490958	3	4	406	1	0	0	0	0	1	0	0	0	5984	710	25	2	5630	2	FLNC	7	128490958	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	28303036	128490958	30647705	21	41137											
MYOM2	9172	broad.mit.edu	37	chr8	2027640	2027640	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaacctttctctccgcaGccgttcatttggagggagag	7	12	11	11	2	3	1	2	0	1	1	5	3	4	2	3	2	2	2	3	2	1	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr8:2027640G>A	ENST00000262113.4	+	13	1603		c.e13-1		MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2						muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TCTCTCCGCAGCCGTTCATTT	0.512													A	2027640	G	A	2027640	5	1	406	1	0	0	0	0	0	0	1	0	10168	985	34	2	1508	2	MYOM2	8	2027640	Splice_Site	SNP	G	TCGA-DU-8162-01A-21D-2253-08		2027640	144336382	22	41138											
OPN4	94233	broad.mit.edu	37	chr10	88418311	88418311	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaccctgacggccatcgcCctggaccgctacctggtaat	8	8	9	16	3	1	1	1	1	0	0	2	2	1	2	5	3	1	2	5	3	2	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:88418311C>T	ENST00000372071.2	+	5	755	c.528C>T	c.(526-528)gcC>gcT	p.A176A	OPN4_ENST00000241891.5_Silent_p.A165A	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	165					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGGCCATCGCCCTGGACCGCT	0.612													T	88418311	C	T	88418311	2	4	406	1	0	0	0	0	0	0	0	1	10958	610	22	2		2	OPN4	10	88418311	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		88418311	47116436	23	41139											
C10orf12	26148	broad.mit.edu	37	chr10	98742401	98742401	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggctgaggacaaccaaagCatcagtgctgaggttgagtc	13	7	13	8	0	1	3	1	3	0	0	2	4	1	4	1	3	3	4	1	3	3	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr10:98742401C>A	ENST00000286067.2	+	1	1361	c.1254C>A	c.(1252-1254)agC>agA	p.S418R		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	418										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACAACCAAAGCATCAGTGCTG	0.498													A	98742401	C	A	98742401	3	1	406	1	0	0	0	0	1	0	0	0	1600	709	25	4	1256	4	C10orf12	10	98742401	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	10324090	98742401	36792346	24	41140											
IPO7	10527	broad.mit.edu	37	chr11	9459665	9459665	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtgttctcggactctgtgCtcttattgatatggaacaga	8	15	11	7	1	3	2	0	1	3	1	4	4	3	4	0	2	2	2	0	2	3	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr11:9459665C>G	ENST00000379719.3	+	22	2670	c.2528C>G	c.(2527-2529)gCt>gGt	p.A843G		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	843					interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GGACTCTGTGCTCTTATTGAT	0.308													G	9459665	C	G	9459665	3	3	406	1	0	0	0	0	1	0	0	0	7855	797	28	4	2614	4	IPO7	11	9459665	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		9459665	125546851	25	41141											
IQSEC3	440073	broad.mit.edu	37	chr12	274929	274929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcacactggtgaccccgctCtcgggctccgagaagaagca	10	6	11	14	3	2	3	1	1	1	2	4	4	3	3	3	2	1	3	3	2	2	0			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:274929C>T	ENST00000538872.1	+	11	2962	c.2844C>T	c.(2842-2844)ctC>ctT	p.L948L	IQSEC3_ENST00000326261.4_Silent_p.L948L|IQSEC3_ENST00000382841.2_Silent_p.L645L|RP11-598F7.5_ENST00000540136.1_RNA			Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	948	PH.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		TGACCCCGCTCTCGGGCTCCG	0.612													T	274929	C	T	274929	2	4	406	1	0	0	0	0	0	0	0	1	7877	900	32	2		2	IQSEC3	12	274929	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		274929	133576966	26	41142											
RFX4	5992	broad.mit.edu	37	chr12	107090062	107090062	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgtgggtcaatacaggTtcaaagtttccttctgcact	8	15	8	10	0	4	0	2	0	2	0	6	0	5	0	1	2	2	3	1	2	3	4			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr12:107090062T>G	ENST00000392842.1	+	8	1085	c.671T>G	c.(670-672)gTt>gGt	p.V224G	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Splice_Site_p.V130G|RFX4_ENST00000357881.4_Splice_Site_p.V233G	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	224					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						TCAATACAGGTTCAAAGTTTC	0.552													G	107090062	T	G	107090062	5	3	406	1	0	0	0	0	0	0	1	0	13353	1739	60	5	874	5	RFX4	12	107090062	Splice_Site	SNP	T	TCGA-DU-8162-01A-21D-2253-08	106815133	107090062	26761833	27	41143											
NYNRIN	57523	broad.mit.edu	37	chr14	24884570	24884570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agccagggcccccagtcaggGggtgacagcccctatgctgt	7	6	14	14	0	1	1	1	1	0	0	1	1	1	1	5	3	3	1	5	3	1	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr14:24884570G>A	ENST00000382554.3	+	9	3933	c.3615G>A	c.(3613-3615)ggG>ggA	p.G1205G		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1205					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CCCAGTCAGGGGGTGACAGCC	0.622													A	24884570	G	A	24884570	2	1	406	1	0	0	0	0	0	0	0	1	10872	1219	43	2		2	NYNRIN	14	24884570	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		24884570	82464970	28	41144											
PYCARD	29108	broad.mit.edu	37	chr16	31213046	31213046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggttggtgggctcggcccGcactgcctggtactgctcat	3	11	15	12	2	1	0	1	0	0	0	2	0	1	0	2	5	3	5	2	5	1	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr16:31213046G>A	ENST00000247470.9	-	3	749	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	PYCARD_ENST00000350605.4_Missense_Mutation_p.R131W	NM_013258.4	NP_037390.2	Q9ULZ3	ASC_HUMAN	PYD and CARD domain containing	150	CARD.				induction of apoptosis|positive regulation of interleukin-1 beta secretion|positive regulation of NF-kappaB transcription factor activity|proteolysis|tumor necrosis factor-mediated signaling pathway	IkappaB kinase complex	caspase activator activity|cysteine-type endopeptidase activity|protein homodimerization activity|Pyrin domain binding			NS(1)|kidney(1)	2						GGCTCGGCCCGCACTGCCTGG	0.607													A	31213046	G	A	31213046	3	1	406	1	0	0	0	0	1	0	0	0	12942	1086	38	1	143	1	PYCARD	16	31213046	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		31213046	59141707	29	41145											
SGK494	124923	broad.mit.edu	37	chr17	26939672	26939672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttccctgccagctgtcccCcaagctgtgtacaaagggat	8	11	9	13	0	0	0	0	0	0	0	2	1	2	1	4	1	4	3	4	1	3	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr17:26939672C>T	ENST00000301037.5	-	5	510	c.511G>A	c.(511-513)Ggg>Agg	p.G171R	RP11-192H23.4_ENST00000534850.1_Intron|RP11-192H23.4_ENST00000577790.1_Intron|SPAG5-AS1_ENST00000424210.1_RNA|SPAG5-AS1_ENST00000554154.1_RNA|SGK494_ENST00000469832.3_5'UTR|SPAG5-AS1_ENST00000414744.1_RNA	NM_001174103.1	NP_001167574.1																					CAGCTGTCCCCCAAGCTGTGT	0.488													T	26939672	C	T	26939672	3	4	406	1	0	0	0	0	1	0	0	0	14306	623	22	2	753	2	SGK494	17	26939672	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		26939672	54255538	30	41146											
GIPC3	126326	broad.mit.edu	37	chr19	3589459	3589459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatatgattggccagagaaGtcggtccagcaaatgtccag	13	8	12	8	1	0	3	0	1	0	2	3	4	2	3	3	2	1	1	3	2	3	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:3589459G>T	ENST00000322315.5	+	4	656	c.611G>T	c.(610-612)aGt>aTt	p.S204I		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	204										breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		GGCCAGAGAAGTCGGTCCAGC	0.597													T	3589459	G	T	3589459	3	4	406	1	0	0	0	0	1	0	0	0	6450	1029	36	4	625	4	GIPC3	19	3589459	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08		3589459	55539524	31	41147											
SLC1A6	6511	broad.mit.edu	37	chr19	15073150	15073150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctcgtgctgtactgcGtcttgaactgaaatagagag	10	10	10	11	2	1	3	0	2	1	1	2	4	1	3	2	0	4	2	2	0	4	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15073150G>A	ENST00000598504.1	-	8	1958	c.599C>T	c.(598-600)aCg>aTg	p.T200M	SLC1A6_ENST00000600144.1_Missense_Mutation_p.T200M|SLC1A6_ENST00000544886.2_Missense_Mutation_p.T200M|SLC1A6_ENST00000430939.2_Missense_Mutation_p.T136M|SLC1A6_ENST00000221742.3_Missense_Mutation_p.T200M	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	200					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	GCTGTACTGCGTCTTGAACTG	0.532													A	15073150	G	A	15073150	3	1	406	1	0	0	0	0	1	0	0	0	14530	1145	40	1	1115	1	SLC1A6	19	15073150	Missense_Mutation	SNP	G	TCGA-DU-8162-01A-21D-2253-08	11483691	15073150	44055833	32	41148											
CYP4F12	66002	broad.mit.edu	37	chr19	15791263	15791263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccgtcggatgctgacgccCgccttccatttcaacatcct	7	10	7	17	4	1	1	1	1	0	0	4	2	3	2	5	1	2	1	5	1	1	2			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:15791263C>T	ENST00000550308.1	+	5	839	c.459C>T	c.(457-459)ccC>ccT	p.P153P	CYP4F12_ENST00000324632.10_Silent_p.P153P	NM_023944.3	NP_076433			cytochrome P450, family 4, subfamily F, polypeptide 12											NS(1)|central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	41	Acute lymphoblastic leukemia(2;0.0367)					TGCTGACGCCCGCCTTCCATT	0.537													T	15791263	C	T	15791263	2	4	406	1	0	0	0	0	0	0	0	1	4220	639	23	1		1	CYP4F12	19	15791263	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08	718113	15791263	43337720	33	41149											
ZNF681	148213	broad.mit.edu	37	chr19	23926839	23926839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcttcacatttgtaggAtttctctccagtatgaattc	10	17	5	9	0	3	1	1	1	2	0	6	2	4	2	1	1	0	2	1	1	3	7			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:23926839A>G	ENST00000402377.3	-	4	1654	c.1513T>C	c.(1513-1515)Tcc>Ccc	p.S505P	ZNF681_ENST00000395385.3_Missense_Mutation_p.S436P	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CATTTGTAGGATTTCTCTCCA	0.373													G	23926839	A	G	23926839	3	3	406	1	0	0	0	0	1	0	0	0	18189	333	12	3	428	3	ZNF681	19	23926839	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08	8135576	23926839	35202144	34	41150											
ATP4A	495	broad.mit.edu	37	chr19	36046172	36046172	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgcccatggctactccgAtgtctgccttcttcagagct	6	12	9	14	2	3	1	1	0	2	1	4	3	4	1	3	1	4	2	3	1	1	3			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:36046172A>T	ENST00000262623.3	-	15	2250	c.2222T>A	c.(2221-2223)aTc>aAc	p.I741N		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	741					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTACTCCGATGTCTGCCTT	0.587													T	36046172	A	T	36046172	3	4	406	1	0	0	0	0	1	0	0	0	1150	333	12	5	917	5	ATP4A	19	36046172	Missense_Mutation	SNP	A	TCGA-DU-8162-01A-21D-2253-08	12119333	36046172	23082811	35	41151											
RRAS	6237	broad.mit.edu	37	chr19	50140129	50140129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagccgtggccagcaCgcatgtactgctctctcatg	8	8	12	13	2	2	0	1	0	1	0	3	1	2	1	2	2	4	5	2	2	2	1			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr19:50140129C>T	ENST00000246792.3	-	3	398	c.296G>A	c.(295-297)cGt>cAt	p.R99H		NM_006270.3	NP_006261.1	P10301	RRAS_HUMAN	related RAS viral (r-ras) oncogene homolog	99					axon guidance|Ras protein signal transduction|synaptic transmission	intracellular|plasma membrane	GDP binding|GTP binding|GTPase activity|protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(2)	6				OV - Ovarian serous cystadenocarcinoma(262;0.00114)|GBM - Glioblastoma multiforme(134;0.0206)		GTGGCCAGCACGCATGTACTG	0.667													T	50140129	C	T	50140129	3	4	406	1	0	0	0	0	1	0	0	0	13767	536	19	1	376	1	RRAS	19	50140129	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	14093957	50140129	8988854	36	41152											
ASXL1	171023	broad.mit.edu	37	chr20	31023107	31023107	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaacagagcatttgatgaCgaattagggcttggtggctc	11	10	13	7	1	0	4	0	2	0	2	1	5	0	4	0	3	2	3	0	3	3	3	rs147278940	by1000genomes	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr20:31023107C>T	ENST00000375687.4	+	13	3016	c.2592C>T	c.(2590-2592)gaC>gaT	p.D864D	ASXL1_ENST00000306058.5_Silent_p.D859D	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	864					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						CATTTGATGACGAATTAGGGC	0.458			"F, N, Mis"		"MDS, CMML"								T	31023107	C	T	31023107	2	4	406	1	0	0	0	0	0	0	0	1	1071	535	19	1		1	ASXL1	20	31023107	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08		31023107	32002413	37	41153											
RTN4R	65078	broad.mit.edu	37	chr22	20229976	20229976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatagagtgtcatgaggCggccaaggtcacggaaggca	13	5	15	8	2	2	3	2	1	0	2	2	4	2	4	1	5	0	1	1	5	3	1	rs139685891		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chr22:20229976C>T	ENST00000043402.7	-	2	1118	c.680G>A	c.(679-681)cGc>cAc	p.R227H		NM_023004.5	NP_075380.1	Q9BZR6	RTN4R_HUMAN	reticulon 4 receptor	227					axonogenesis|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	anchored to membrane|cell surface|endoplasmic reticulum|plasma membrane	protein binding|receptor activity			lung(1)|ovary(1)|prostate(1)	3	Colorectal(54;0.0993)					TGTCATGAGGCGGCCAAGGTC	0.642													T	20229976	C	T	20229976	3	4	406	1	0	0	0	0	1	0	0	0	13821	768	27	1	745	1	RTN4R	22	20229976	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08		20229976	31074590	38	41154											
GPRASP1	9737	broad.mit.edu	37	chrX	101912054	101912054	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataagcccctttagatttccGaaagaggcagcatctttatt	12	13	7	9	1	1	2	0	0	1	2	2	3	2	2	3	1	2	2	3	1	4	7			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:101912054G>A	ENST00000537097.1	+	6	4026	c.3213G>A	c.(3211-3213)ccG>ccA	p.P1071P	GPRASP1_ENST00000415986.1_Silent_p.P1071P|GPRASP1_ENST00000361600.5_Silent_p.P1071P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Silent_p.P1071P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1071	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TTAGATTTCCGAAAGAGGCAG	0.512													A	101912054	G	A	101912054	2	1	406	1	0	0	0	0	0	0	0	1	6777	1045	37	1		1	GPRASP1	23	101912054	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08		101912054	53358506	39	41155											
SEPT6	23157	broad.mit.edu	37	chrX	118774683	118774683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccccaaggatactgccgCgccctcatcatcttgttgcc	6	10	9	16	2	3	0	2	0	1	0	3	1	3	1	5	1	4	1	5	1	2	3	rs143382025		TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:118774683C>T	ENST00000394610.1	-	6	1023	c.759G>A	c.(757-759)gcG>gcA	p.A253A	SEPT6_ENST00000354416.3_Silent_p.A253A|SEPT6_ENST00000394616.4_Silent_p.A195A|SEPT6_ENST00000354228.4_Silent_p.A253A|SEPT6_ENST00000394617.2_Silent_p.A283A|SEPT6_ENST00000343984.5_Silent_p.A253A|SEPT6_ENST00000489216.1_Silent_p.A253A|SEPT6_ENST00000360156.7_Silent_p.A253A	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	253					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding	p.A253A(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						GATACTGCCGCGCCCTCATCA	0.547			T	MLL	AML								T	118774683	C	T	118774683	2	4	406	1	0	0	0	0	0	0	0	1	14161	755	27	1		1	SEPT6	23	118774683	Silent	SNP	C	TCGA-DU-8162-01A-21D-2253-08	16862629	118774683	36495877	40	41156											
MAP7D3	79649	broad.mit.edu	37	chrX	135313712	135313712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgacaaacctttggagcGtctctcgcttttgccttggg	6	14	10	11	2	1	1	0	1	1	0	3	2	1	2	2	2	3	1	2	2	1	5			TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:135313712G>A	ENST00000316077.9	-	8	1624	c.1404C>T	c.(1402-1404)gaC>gaT	p.D468D	MAP7D3_ENST00000370663.5_Silent_p.D450D|MAP7D3_ENST00000370661.1_Silent_p.D433D	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	468						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCTTTGGAGCGTCTCTCGCTT	0.423													A	135313712	G	A	135313712	2	1	406	1	0	0	0	0	0	0	0	1	9344	1136	40	1		1	MAP7D3	23	135313712	Silent	SNP	G	TCGA-DU-8162-01A-21D-2253-08	16539029	135313712	19956848	41	41157											
GABRE	2564	broad.mit.edu	37	chrX	151123279	151123279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagacatggatgcagaggCggccctgctgccaggtactg	8	7	16	10	1	0	2	0	0	0	2	0	3	0	3	2	5	4	4	2	5	2	2	rs80186670	byFrequency	TCGA-DU-8162-01A-21D-2253-08	TCGA-DU-8162-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	337b4f73-2891-4f94-a24e-a6022bc871da	a92ca991-440e-4646-826f-2db2b4734fb2	g.chrX:151123279C>T	ENST00000370328.3	-	9	1468	c.1415G>A	c.(1414-1416)cGc>cAc	p.R472H	GABRE_ENST00000370325.1_3'UTR|GABRE_ENST00000483564.1_5'UTR	NM_004961.3	NP_004952.2	P78334	GBRE_HUMAN	gamma-aminobutyric acid (GABA) A receptor, epsilon	472					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R359H(1)|p.R472H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|skin(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GATGCAGAGGCGGCCCTGCTG	0.522													T	151123279	C	T	151123279	3	4	406	1	0	0	0	0	1	0	0	0	6222	768	27	1	109	1	GABRE	23	151123279	Missense_Mutation	SNP	C	TCGA-DU-8162-01A-21D-2253-08	15809567	151123279	4147281	42	41158											
FBLIM1	54751	broad.mit.edu	37	chr1	16101379	16101379	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcttgagtcctgggtgCtgggccagagtttcctgtct	4	13	14	10	0	1	3	0	2	1	1	3	3	3	3	3	2	2	3	3	2	0	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16101379C>T	ENST00000441801.2	+	6	1185	c.978C>T	c.(976-978)tgC>tgT	p.C326C	FBLIM1_ENST00000332305.5_Intron|FBLIM1_ENST00000375771.1_Intron|FBLIM1_ENST00000375766.3_Intron|FBLIM1_ENST00000400773.1_Intron	NM_001024215.1	NP_001019386.1	Q8WUP2	FBLI1_HUMAN	filamin binding LIM protein 1	0	LIM zinc-binding 3.|PLEKHC1-binding.				cell adhesion|cell junction assembly|regulation of cell shape	cell cortex|cytoskeleton|cytosol|focal adhesion|intracellular membrane-bounded organelle	zinc ion binding			large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	16		Colorectal(325;0.000257)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.56e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|KIRC - Kidney renal clear cell carcinoma(229;0.00244)|READ - Rectum adenocarcinoma(331;0.0649)|STAD - Stomach adenocarcinoma(313;0.138)		GTCCTGGGTGCTGGGCCAGAG	0.572													T	16101379	C	T	16101379	2	4	407	1	0	0	0	0	0	0	0	1	5746	805	28	2		2	FBLIM1	1	16101379	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08		16101379	233149242	1	41159											
CLCNKA	1187	broad.mit.edu	37	chr1	16352610	16352610	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctggctaaggttctggAatcccggagctgaagaccat	9	10	12	10	1	2	2	0	1	2	1	3	4	3	4	2	4	1	3	2	4	3	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16352610A>G	ENST00000375692.1	+	6	494	c.366A>G	c.(364-366)ggA>ggG	p.G122G	CLCNKA_ENST00000420078.1_Silent_p.G122G|CLCNKA_ENST00000331433.4_Silent_p.G122G|CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Silent_p.G79G			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	122					excretion	chloride channel complex|integral to plasma membrane	voltage-gated chloride channel activity			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	AAGGTTCTGGAATCCCGGAGC	0.552													G	16352610	A	G	16352610	2	3	407	1	0	0	0	0	0	0	0	1	3500	233	9	3		3	CLCNKA	1	16352610	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	251231	16352610	232898011	2	41160											
CLCNKB	1188	broad.mit.edu	37	chr1	16378296	16378296	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaccaatcccatcatgccAggggggtatgctctggcagg	9	8	12	12	0	3	0	2	0	1	0	4	0	4	0	3	5	2	3	3	5	2	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:16378296A>C	ENST00000375679.4	+	14	1500	c.1389A>C	c.(1387-1389)ccA>ccC	p.P463P	CLCNKB_ENST00000375667.3_Silent_p.P294P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CCATCATGCCAGGGGGGTATG	0.622													C	16378296	A	C	16378296	2	2	407	1	0	0	0	0	0	0	0	1	3501	175	7	5		5	CLCNKB	1	16378296	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	25686	16378296	232872325	3	41161											
CAPN2	824	broad.mit.edu	37	chr1	223900426	223900426	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggccatcaagtacctCaaccaggactacgaggcgct	12	5	11	13	2	2	0	2	0	0	0	2	3	2	1	3	3	3	2	3	3	4	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:223900426C>G	ENST00000295006.5	+	1	393	c.84C>G	c.(82-84)ctC>ctG	p.L28L	CAPN2_ENST00000433674.2_Intron	NM_001748.4	NP_001739	P17655	CAN2_HUMAN	calpain 2, (m/II) large subunit	28					proteolysis	cytoplasm|plasma membrane				breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|stomach(3)	29				GBM - Glioblastoma multiforme(131;0.109)		TCAAGTACCTCAACCAGGACT	0.716													G	223900426	C	G	223900426	2	3	407	1	0	0	0	0	0	0	0	1	2653	813	29	4		4	CAPN2	1	223900426	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	207522130	223900426	25350195	4	41162											
OR2T8	343172	broad.mit.edu	37	chr1	248084484	248084484	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaccaccggctccacacGcccatgtacttcctcctgag	7	8	9	17	2	0	1	0	1	0	0	3	2	3	2	6	2	1	2	6	2	1	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:248084484G>A	ENST00000319968.4	+	1	165	c.165G>A	c.(163-165)acG>acA	p.T55T		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGCTCCACACGCCCATGTACT	0.522													A	248084484	G	A	248084484	2	1	407	1	0	0	0	0	0	0	0	1	11106	1074	38	1		1	OR2T8	1	248084484	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	24184058	248084484	1166137	5	41163											
OR2T12	127064	broad.mit.edu	37	chr1	248458716	248458716	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaggaggaagtacatgggCctgtggagccggtggtccca	8	7	16	10	1	1	0	1	0	0	0	2	3	2	3	3	6	2	1	3	6	2	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr1:248458716C>T	ENST00000317996.1	-	1	164	c.165G>A	c.(163-165)agG>agA	p.R55R		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			AGTACATGGGCCTGTGGAGCC	0.527													T	248458716	C	T	248458716	2	4	407	1	0	0	0	0	0	0	0	1	11095	738	26	2		2	OR2T12	1	248458716	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	374232	248458716	791905	6	41164											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44028017	44028017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctattactaaaaatacGtggagttatcaaccagttgg	14	12	8	7	1	2	0	1	0	1	0	2	1	2	1	1	2	4	3	1	2	8	6	rs141895414		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:44028017G>A	ENST00000260605.8	+	9	792	c.692G>A	c.(691-693)cGt>cAt	p.R231H	DYNC2LI1_ENST00000489222.2_3'UTR|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.R105H|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.R232H	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	231						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CTAAAAATACGTGGAGTTATC	0.313													A	44028017	G	A	44028017	3	1	407	1	0	0	0	0	1	0	0	0	4886	1145	40	1	825	1	DYNC2LI1	2	44028017	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		44028017	199171356	7	41165											
FAHD2A	51011	broad.mit.edu	37	chr2	96071501	96071501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaccccacactcccgaagacGatgacgcagttcctagagca	12	5	9	15	3	0	3	0	1	0	2	2	6	2	3	4	0	1	3	4	0	2	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:96071501G>A	ENST00000233379.4	+	2	348	c.195G>A	c.(193-195)acG>acA	p.T65T	FAHD2A_ENST00000447036.1_Silent_p.T65T	NM_016044.2	NP_057128.2	Q96GK7	FAH2A_HUMAN	fumarylacetoacetate hydrolase domain containing 2A	65							hydrolase activity|metal ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(3)|ovary(1)	8						TCCCGAAGACGATGACGCAGT	0.617													A	96071501	G	A	96071501	2	1	407	1	0	0	0	0	0	0	0	1	5418	1045	37	1		1	FAHD2A	2	96071501	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	52043484	96071501	147127872	8	41166											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	407	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	113041611	209113112	34086261	9	41167											
XIRP1	165904	broad.mit.edu	37	chr3	39227182	39227182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggaggaggaggaacaaagGcattatgggggtgcgggctg	11	6	20	4	1	0	0	0	0	0	0	0	4	0	4	0	8	2	2	0	8	4	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:39227182G>A	ENST00000340369.3	-	2	3983	c.3755C>T	c.(3754-3756)gCc>gTc	p.A1252V	XIRP1_ENST00000421646.1_Intron|XIRP1_ENST00000396251.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1252	Pro-rich.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGGAACAAAGGCATTATGGGG	0.622													A	39227182	G	A	39227182	3	1	407	1	0	0	0	0	1	0	0	0	17531	1203	42	2	1780	2	XIRP1	3	39227182	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		39227182	158795248	10	41168											
TRH	7200	broad.mit.edu	37	chr3	129695840	129695840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctgggaagaagaGgaggaggaggaagagagaga	18	1	20	2	0	0	4	0	0	0	4	0	12	0	10	0	6	1	1	0	6	4	0			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:129695840G>A	ENST00000302649.3	+	3	1037	c.510G>A	c.(508-510)gaG>gaA	p.E170E	TRH_ENST00000507066.1_Silent_p.E166E	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	170					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity	p.E170E(1)		NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						Gggaagaagaggaggaggagg	0.642													A	129695840	G	A	129695840	2	1	407	1	0	0	0	0	0	0	0	1	16579	991	35	2		2	TRH	3	129695840	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	90468658	129695840	68326590	11	41169											
DLG1	1739	broad.mit.edu	37	chr3	196812552	196812552	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagcattaataacatggagGatatctccaaatttgaagtt	16	12	8	5	0	1	1	0	1	1	0	2	4	1	3	1	2	2	2	1	2	6	5			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr3:196812552G>A	ENST00000346964.2	-	17	2025	c.1836C>T	c.(1834-1836)atC>atT	p.I612I	DLG1_ENST00000392382.2_Silent_p.I579I|DLG1_ENST00000419354.1_Silent_p.I612I|DLG1_ENST00000422288.1_Silent_p.I561I|DLG1_ENST00000450955.1_Silent_p.I579I|DLG1_ENST00000448528.2_Silent_p.I612I|DLG1_ENST00000314062.3_Silent_p.I561I|DLG1_ENST00000357674.4_Silent_p.I579I|DLG1_ENST00000452595.1_Silent_p.I496I|DLG1_ENST00000443183.1_Silent_p.I496I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	612	SH3.				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TAACATGGAGGATATCTCCAA	0.448													A	196812552	G	A	196812552	2	1	407	1	0	0	0	0	0	0	0	1	4593	1164	41	2		2	DLG1	3	196812552	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	67116712	196812552	1209878	12	41170											
IRX4	50805	broad.mit.edu	37	chr5	1879669	1879671	+	In_Frame_Del	DEL	CCT	CCT	-																															ccgcgcctcctcctcgccccCctcctcctcctcgccctccg																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:1879669_1879671delCCT	ENST00000505790.1	-	5	1139_1141	c.683_685delAGG	c.(682-687)gagggg>ggg	p.E228del	IRX4_ENST00000513692.1_In_Frame_Del_p.E228del|IRX4_ENST00000505938.1_5'UTR|IRX4_ENST00000231357.2_In_Frame_Del_p.E228del	NM_001278634.1	NP_001265563.1	P78413	IRX4_HUMAN	iroquois homeobox 4	228	Poly-Glu.				heart development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|lung(7)|ovary(1)|prostate(1)	10				GBM - Glioblastoma multiforme(108;0.242)		tcctcgcccccctcctcctcctc	0.685													-	1879671	CCT	-	1879669	7	5	407	1	0	1	0	1	0	0	0	0	7904	623	22	0	882	0	IRX4	5	1879669	In_Frame_Del	DEL	CCT	TCGA-DU-8163-01A-11D-2253-08		1879669	179035591	13	41171											
ADAMTS19	171019	broad.mit.edu	37	chr5	129037126	129037126	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttcacgaacttgtggaaaAggaatgcagagcagacaagt	15	8	12	6	1	1	2	1	0	0	2	1	5	1	4	0	2	3	3	0	2	5	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:129037126A>G	ENST00000274487.4	+	20	3127	c.2982A>G	c.(2980-2982)aaA>aaG	p.K994K	CTC-575N7.1_ENST00000503616.1_RNA|ADAMTS19_ENST00000509467.1_3'UTR	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	994	TSP type-1 3.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTGTGGAAAAGGAATGCAGA	0.483													G	129037126	A	G	129037126	2	3	407	1	0	0	0	0	0	0	0	1	264	69	3	3		3	ADAMTS19	5	129037126	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	127157457	129037126	51878134	14	41172											
UNC5A	90249	broad.mit.edu	37	chr5	176289826	176289826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggaccacgtgatcgagcGcagcacagacgggagcagtg	10	4	17	10	4	0	2	0	1	0	1	1	5	0	4	1	3	3	3	1	3	0	0			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr5:176289826G>A	ENST00000329542.4	+	2	546	c.272G>A	c.(271-273)cGc>cAc	p.R91H		NM_133369.2	NP_588610.2	Q6ZN44	UNC5A_HUMAN	unc-5 homolog A (C. elegans)	91	Ig-like.				apoptosis|axon guidance|regulation of apoptosis	integral to membrane|plasma membrane				endometrium(4)|kidney(3)|large_intestine(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	34	all_cancers(89;0.000119)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTGATCGAGCGCAGCACAGAC	0.677													A	176289826	G	A	176289826	3	1	407	1	0	0	0	0	1	0	0	0	17093	1087	38	1	278	1	UNC5A	5	176289826	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08	47252700	176289826	4625434	15	41173											
KDM1B	221656	broad.mit.edu	37	chr6	18218071	18218071	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaagtggggaggcctacgaTatcattgctgaagacattca	12	9	13	7	1	2	2	2	1	0	1	2	5	2	4	1	4	2	1	1	4	4	4			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:18218071T>G	ENST00000388870.2	+	21	2584	c.2343T>G	c.(2341-2343)gaT>gaG	p.D781E	KDM1B_ENST00000546309.2_Missense_Mutation_p.D71E|KDM1B_ENST00000297792.5_Missense_Mutation_p.D548E|KDM1B_ENST00000397244.1_Missense_Mutation_p.D549E			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	780					multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						AGGCCTACGATATCATTGCTG	0.438													G	18218071	T	G	18218071	3	3	407	1	0	0	0	0	1	0	0	0	8181	1403	49	5	1702	5	KDM1B	6	18218071	Missense_Mutation	SNP	T	TCGA-DU-8163-01A-11D-2253-08		18218071	152896996	16	41174											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043861	26043861	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agaaccctttttaggggctgGagcagacttagagggttcag	10	10	14	7	0	1	3	1	0	0	3	1	4	1	4	1	4	2	3	1	4	3	5			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:26043861G>C	ENST00000357905.2	-	1	24	c.25C>G	c.(25-27)Cca>Gca	p.P9A		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	9					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						TTAGGGGCTGGAGCAGACTTA	0.458													C	26043861	G	C	26043861	3	2	407	1	0	0	0	0	1	0	0	0	7196	1174	41	4	359	4	HIST1H2BB	6	26043861	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08	7825790	26043861	145071206	17	41175											
TFEB	7942	broad.mit.edu	37	chr6	41658430	41658430	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggttggagccaatgtgcaGcatggccatggggctattgg	8	9	17	7	0	0	0	0	0	0	0	0	1	0	1	2	6	3	4	2	6	2	3			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:41658430G>A	ENST00000394283.1	-	3	1665	c.439C>T	c.(439-441)Ctg>Ttg	p.L147L	TFEB_ENST00000373033.1_Silent_p.L147L|TFEB_ENST00000358871.2_Silent_p.L161L|TFEB_ENST00000420312.1_Intron|TFEB_ENST00000230323.4_Silent_p.L147L|TFEB_ENST00000403298.4_Silent_p.L147L			P19484	TFEB_HUMAN	transcription factor EB	147					embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			CCAATGTGCAGCATGGCCATG	0.642			T	ALPHA	renal (childhood epithelioid)								A	41658430	G	A	41658430	2	1	407	1	0	0	0	0	0	0	0	1	15901	962	34	2		2	TFEB	6	41658430	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	15614569	41658430	129456637	18	41176											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A																															caacagcagcagcagcagcaGcaacagcagcagcagcagca																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													A	45390463	G	A	45390463	2	1	407	1	0	0	0	0	0	0	0	1	13839	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	3732033	45390463	125724604	19	41177	133	2									
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcagcagcagcagcagga																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													G	45390466	A	G	45390466	2	3	407	1	0	0	0	0	0	0	0	1	13839	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	3	45390466	125724601	20	41178	133	2									
PSD3	23362	broad.mit.edu	37	chr8	18432755	18432755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacactcacagcgtttttcAagtcctcttcagacaaggcc	10	10	7	14	1	4	1	3	0	1	1	5	1	5	1	2	1	1	2	2	1	2	3			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr8:18432755A>G	ENST00000440756.2	-	13	2630	c.2528T>C	c.(2527-2529)tTg>tCg	p.L843S	PSD3_ENST00000327040.8_Missense_Mutation_p.L841S|PSD3_ENST00000523619.1_Missense_Mutation_p.L776S|PSD3_ENST00000428502.2_Missense_Mutation_p.L170S|PSD3_ENST00000286485.8_Missense_Mutation_p.L307S			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	842	PH.				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AGCGTTTTTCAAGTCCTCTTC	0.418													G	18432755	A	G	18432755	3	3	407	1	0	0	0	0	1	0	0	0	12733	131	5	3	637	3	PSD3	8	18432755	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		18432755	127931267	21	41179											
OR51E1	143503	broad.mit.edu	37	chr11	4674358	4674358	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatccgggtcaatgtcgtctAtggccttatcgtcatcatct	7	15	8	11	3	5	0	3	0	2	0	8	0	6	0	2	2	0	0	2	2	4	3			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:4674358A>C	ENST00000396952.5	+	2	1252	c.602A>C	c.(601-603)tAt>tCt	p.Y201S	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		AATGTCGTCTATGGCCTTATC	0.493													C	4674358	A	C	4674358	3	2	407	1	0	0	0	0	1	0	0	0	11170	449	16	5	604	5	OR51E1	11	4674358	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		4674358	130332158	22	41180											
OR10A4	283297	broad.mit.edu	37	chr11	6898019	6898019	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atgggcaatgtcctcatcatCctggtcactatagctgactc	9	12	8	12	0	3	1	3	1	0	0	6	1	5	1	2	2	1	2	2	2	3	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:6898019C>G	ENST00000379829.2	+	1	164	c.141C>G	c.(139-141)atC>atG	p.I47M		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	47					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCCTCATCATCCTGGTCACTA	0.453													G	6898019	C	G	6898019	3	3	407	1	0	0	0	0	1	0	0	0	10968	845	30	4	143	4	OR10A4	11	6898019	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	2223661	6898019	128108497	23	41181											
MICALCL	84953	broad.mit.edu	37	chr11	12315446	12315446	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctggagaagaccgggaaaaAgggagtactggagccaggaa	15	3	17	6	1	0	2	0	0	0	2	0	7	0	6	2	5	2	2	2	5	5	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:12315446A>G	ENST00000256186.2	+	3	759	c.468A>G	c.(466-468)aaA>aaG	p.K156K		NM_032867.2	NP_116256.2	Q6ZW33	MICLK_HUMAN	MICAL C-terminal like	156					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	mitogen-activated protein kinase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(5)|lung(5)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	30				Epithelial(150;0.00177)		ACCGGGAAAAAGGGAGTACTG	0.562													G	12315446	A	G	12315446	2	3	407	1	0	0	0	0	0	0	0	1	9647	69	3	3		3	MICALCL	11	12315446	Silent	SNP	A	TCGA-DU-8163-01A-11D-2253-08	5417427	12315446	122691070	24	41182											
PAX6	5080	broad.mit.edu	37	chr11	31816308	31816308	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggagttggtattctcTccccctccttcctgttgctg	3	16	9	13	0	1	1	0	1	1	0	5	2	4	2	4	2	1	4	4	2	1	5			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr11:31816308T>C	ENST00000419022.1	-	9	1062	c.594A>G	c.(592-594)ggA>ggG	p.G198G	PAX6_ENST00000379111.2_Silent_p.G184G|PAX6_ENST00000379123.5_Silent_p.G184G|PAX6_ENST00000379107.2_Silent_p.G198G|PAX6_ENST00000379129.2_Silent_p.G198G|PAX6_ENST00000379132.3_Silent_p.G184G|PAX6_ENST00000379115.4_Silent_p.G198G|PAX6_ENST00000241001.8_Silent_p.G184G	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	184	Gln/Gly-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					TGGTATTCTCTCCCCCTCCTT	0.463									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				C	31816308	T	C	31816308	2	2	407	1	0	0	0	0	0	0	0	1	11559	1538	54	3		3	PAX6	11	31816308	Silent	SNP	T	TCGA-DU-8163-01A-11D-2253-08	19500862	31816308	103190208	25	41183											
GLI1	2735	broad.mit.edu	37	chr12	57861814	57861814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccctggctgcaccaaacGctatacagatcctagctcgc	9	8	8	16	2	0	1	0	0	0	1	3	1	2	1	3	1	4	5	3	1	4	3			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr12:57861814G>A	ENST00000228682.2	+	10	1206	c.1115G>A	c.(1114-1116)cGc>cAc	p.R372H	GLI1_ENST00000546141.1_Missense_Mutation_p.R331H|GLI1_ENST00000543426.1_Missense_Mutation_p.R244H	NM_005269.2	NP_005260.1	P08151	GLI1_HUMAN	GLI family zinc finger 1	372					epidermal cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|osteoblast differentiation|positive regulation of DNA replication|positive regulation of smoothened signaling pathway|positive regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(8)|lung(22)|ovary(6)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69			GBM - Glioblastoma multiforme(3;3.99e-32)			TGCACCAAACGCTATACAGAT	0.542													A	57861814	G	A	57861814	3	1	407	1	0	0	0	0	1	0	0	0	6493	1087	38	1	1149	1	GLI1	12	57861814	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		57861814	75990081	26	41184											
RASL11A	387496	broad.mit.edu	37	chr13	27847183	27847183	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccaagacagcctcccccAggtcgtcgattccctgtcca	8	8	8	17	2	0	1	0	0	0	1	6	3	4	1	6	1	1	0	6	1	1	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr13:27847183A>T	ENST00000241463.4	+	4	899	c.281A>T	c.(280-282)cAg>cTg	p.Q94L	RASL11A_ENST00000480803.1_3'UTR	NM_206827.1	NP_996563.1	Q6T310	RSLBA_HUMAN	RAS-like, family 11, member A	94	Small GTPase-like.				positive regulation of transcription from RNA polymerase I promoter|small GTPase mediated signal transduction|transcription, DNA-dependent	membrane|nucleolus	GTP binding|GTPase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|prostate(1)	10		Lung SC(185;0.0161)	Colorectal(13;0.00042)|READ - Rectum adenocarcinoma(15;0.105)	all cancers(112;0.0173)|GBM - Glioblastoma multiforme(144;0.0557)|OV - Ovarian serous cystadenocarcinoma(117;0.152)|Epithelial(112;0.164)		AGCCTCCCCCAGGTCGTCGAT	0.498													T	27847183	A	T	27847183	3	4	407	1	0	0	0	0	1	0	0	0	13169	188	7	5	295	5	RASL11A	13	27847183	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		27847183	87322695	27	41185											
TJP1	7082	broad.mit.edu	37	chr15	30001004	30001004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttgcgttcaaatggtcGggcagaacttgtatatggtt	11	13	11	6	2	1	1	1	0	0	1	2	1	1	1	0	3	3	4	0	3	5	6			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:30001004G>A	ENST00000346128.6	-	25	5083	c.4609C>T	c.(4609-4611)Cga>Tga	p.R1537*	TJP1_ENST00000400011.2_Nonsense_Mutation_p.R1461*|TJP1_ENST00000356107.6_Nonsense_Mutation_p.R1537*|TJP1_ENST00000545208.2_Nonsense_Mutation_p.R1457*	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1537					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction		p.R1537R(1)		breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TCAAATGGTCGGGCAGAACTT	0.403													A	30001004	G	A	30001004	4	1	407	1	0	0	0	0	0	1	0	0	16029	1124	39	1	653	1	TJP1	15	30001004	Nonsense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		30001004	72530388	28	41186											
GCNT3	9245	broad.mit.edu	37	chr15	59911328	59911328	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actatgtttacagggaatgcGtacattgtggcttcccgaga	10	12	11	8	2	0	1	0	0	0	1	1	3	1	2	1	2	3	3	1	2	4	6	rs139760962		TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr15:59911328G>A	ENST00000396065.1	+	3	1339	c.891G>A	c.(889-891)gcG>gcA	p.A297A	GCNT3_ENST00000560585.1_Silent_p.A297A	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	297					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGGAATGCGTACATTGTGG	0.408													A	59911328	G	A	59911328	2	1	407	1	0	0	0	0	0	0	0	1	6356	1132	40	1		1	GCNT3	15	59911328	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08	29910324	59911328	42620064	29	41187											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577120	C	A	7577120	3	1	407	1	0	0	0	0	1	0	0	0	16482	536	19	4	468	4	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08		7577120	73618090	30	41188											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-																															gcatccacctgagccccgaaCagcagcagcagcagctgcag																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													-	17394707	CAG	-	17394705	7	5	407	1	0	1	0	1	0	0	0	0	9529	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-DU-8163-01A-11D-2253-08	9817585	17394705	63800505	31	41189											
MAPK7	5598	broad.mit.edu	37	chr17	19283952	19283952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacctgatggaaagcgacCtgcaccagatcatccactcc	11	7	9	14	1	1	2	1	1	0	1	3	5	3	4	5	2	2	1	5	2	1	0			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19283952C>G	ENST00000308406.5	+	4	816	c.430C>G	c.(430-432)Ctg>Gtg	p.L144V	MAPK7_ENST00000299612.7_Missense_Mutation_p.L5V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.L144V|MAPK7_ENST00000395604.3_Missense_Mutation_p.L144V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	144	Necessary for oligomerization (By similarity).|Protein kinase.				cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					GGAAAGCGACCTGCACCAGAT	0.582													G	19283952	C	G	19283952	3	3	407	1	0	0	0	0	1	0	0	0	9357	680	24	4	440	4	MAPK7	17	19283952	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	1889247	19283952	61911258	32	41190											
MAPK7	5598	broad.mit.edu	37	chr17	19284535	19284535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccagcgctcgcatctcagCagctgctgcccttcgccacc	5	7	9	20	3	1	0	1	0	1	0	4	0	1	0	4	0	5	5	4	0	0	1			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:19284535C>T	ENST00000308406.5	+	4	1399	c.1013C>T	c.(1012-1014)gCa>gTa	p.A338V	MAPK7_ENST00000299612.7_Missense_Mutation_p.A199V|MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A338V|MAPK7_ENST00000395604.3_Missense_Mutation_p.A338V	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	338	Necessary for oligomerization (By similarity).|Poly-Ala.|Protein kinase.				cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CGCATCTCAGCAGCTGCTGCC	0.622													T	19284535	C	T	19284535	3	4	407	1	0	0	0	0	1	0	0	0	9357	710	25	2	1023	2	MAPK7	17	19284535	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	583	19284535	61910675	33	41191											
MYO18A	399687	broad.mit.edu	37	chr17	27434129	27434129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccacgatgtagttacgcCcgtgtttcttggtcaggtgc	6	12	11	12	3	2	0	1	0	1	0	2	1	2	0	3	2	2	3	3	2	2	4			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:27434129C>T	ENST00000527372.1	-	20	3590	c.3410G>A	c.(3409-3411)gGg>gAg	p.G1137E	MYO18A_ENST00000354329.4_Missense_Mutation_p.G1137E|MYO18A_ENST00000531253.1_Missense_Mutation_p.G1137E|MYO18A_ENST00000533112.1_Missense_Mutation_p.G1137E	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1137	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTAGTTACGCCCGTGTTTCTT	0.612													T	27434129	C	T	27434129	3	4	407	1	0	0	0	0	1	0	0	0	10141	623	22	2	2846	2	MYO18A	17	27434129	Missense_Mutation	SNP	C	TCGA-DU-8163-01A-11D-2253-08	8149594	27434129	53761081	34	41192											
ACE	1636	broad.mit.edu	37	chr17	61557164	61557164	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcttcctcgcgaagctaCgccatgctcctgtttgcctg	4	12	10	15	3	0	0	0	0	0	0	3	1	2	0	4	1	4	4	4	1	2	3			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr17:61557164C>T	ENST00000290866.4	+	4	570	c.546C>T	c.(544-546)taC>taT	p.Y182Y	ACE_ENST00000428043.1_Silent_p.Y182Y|ACE_ENST00000538928.1_Silent_p.Y182Y|ACE_ENST00000584529.1_3'UTR	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	182	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CGCGAAGCTACGCCATGCTCC	0.592													T	61557164	C	T	61557164	2	4	407	1	0	0	0	0	0	0	0	1	136	547	19	1		1	ACE	17	61557164	Silent	SNP	C	TCGA-DU-8163-01A-11D-2253-08	34123035	61557164	19638046	35	41193											
KCTD1	284252	broad.mit.edu	37	chr18	24128262	24128264	+	In_Frame_Del	DEL	TCC	TCC	-																															cctccagccccccacctccgTcctcctcctcctcctcgtcc																										TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr18:24128262_24128264delTCC	ENST00000417602.1	-	1	236_238	c.237_239delGGA	c.(235-240)gaggac>gac	p.E79del	KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			cccacctccgtcctcctcctcct	0.69													-	24128264	TCC	-	24128262	7	5	407	1	0	1	0	1	0	0	0	0	8154	1667	58	0	2378	0	KCTD1	18	24128262	In_Frame_Del	DEL	TCC	TCGA-DU-8163-01A-11D-2253-08		24128262	53948986	36	41194											
ZNF83	55769	broad.mit.edu	37	chr19	53116801	53116801	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaaggtttctctccagtGtggattctccagtgatttac	7	17	9	8	0	2	1	0	1	2	0	5	2	3	2	2	2	1	2	2	2	2	6			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr19:53116801G>A	ENST00000597597.1	-	2	3270	c.1017C>T	c.(1015-1017)caC>caT	p.H339H	ZNF83_ENST00000600714.1_Intron|ZNF83_ENST00000541777.2_Silent_p.H339H|ZNF83_ENST00000545872.1_Silent_p.H339H|ZNF83_ENST00000391789.4_Silent_p.H311H|ZNF83_ENST00000601257.1_Intron|ZNF83_ENST00000594682.2_3'UTR|ZNF83_ENST00000301096.3_Silent_p.H339H|ZNF83_ENST00000544146.1_Silent_p.H339H|ZNF83_ENST00000536937.1_Silent_p.H339H			P51522	ZNF83_HUMAN	zinc finger protein 83	339						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		TCTCTCCAGTGTGGATTCTCC	0.418													A	53116801	G	A	53116801	2	1	407	1	0	0	0	0	0	0	0	1	18282	1368	48	2		2	ZNF83	19	53116801	Silent	SNP	G	TCGA-DU-8163-01A-11D-2253-08		53116801	6012182	37	41195											
NDUFA3	4696	broad.mit.edu	37	chr19	54611759	54611759	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcctagcggctggggaaaAgggccacaggatagagctca	11	6	14	10	1	2	1	1	0	1	1	3	3	2	3	2	5	2	2	2	5	4	2			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr19:54611759A>G	ENST00000391764.3	+	4	186	c.176A>G	c.(175-177)aAg>aGg	p.K59R	TFPT_ENST00000391757.1_Intron|TFPT_ENST00000391759.1_Intron|TFPT_ENST00000391758.1_Intron			O95167	NDUA3_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 3, 9kDa	60					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)	2	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)				NADH(DB00157)	GCTGGGGAAAAGGGCCACAGG	0.602													G	54611759	A	G	54611759	3	3	407	1	0	0	0	0	1	0	0	0	10341	87	3	3		3	NDUFA3	19	54611759	Missense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08	1494958	54611759	4517224	38	41196											
HIC2	23119	broad.mit.edu	37	chr22	21799992	21799992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacctcactcccgatgacGcagcccagctgagcgacagc	9	4	9	19	3	1	2	1	2	0	0	2	4	2	2	4	0	4	2	4	0	0	0			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chr22:21799992G>A	ENST00000443632.2	+	2	1180	c.808G>A	c.(808-810)Gca>Aca	p.A270T	HIC2_ENST00000407598.2_Missense_Mutation_p.A270T|HIC2_ENST00000407464.2_Missense_Mutation_p.A270T			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	270					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				TCCCGATGACGCAGCCCAGCT	0.672													A	21799992	G	A	21799992	3	1	407	1	0	0	0	0	1	0	0	0	7157	1087	38	1	814	1	HIC2	22	21799992	Missense_Mutation	SNP	G	TCGA-DU-8163-01A-11D-2253-08		21799992	29504574	39	41197											
ATRX	546	broad.mit.edu	37	chrX	76814188	76814188	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttagtttgtccaaagcgAtaaactctgaatatactctg	12	13	8	8	1	2	1	0	1	2	0	3	2	3	1	1	1	3	2	1	1	7	5			TCGA-DU-8163-01A-11D-2253-08	TCGA-DU-8163-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a240da2-0f4a-4b1c-b220-b220ad4d5749	216b595d-09da-487c-b319-fc9748c68efd	g.chrX:76814188A>C	ENST00000373344.5	-	29	6670	c.6456T>G	c.(6454-6456)taT>taG	p.Y2152*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y2114*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2152	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)	GTCCAAAGCGATAAACTCTGA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76814188	A	C	76814188	4	2	407	1	0	0	0	0	0	1	0	0	1213	340	12	5	1050	5	ATRX	23	76814188	Nonsense_Mutation	SNP	A	TCGA-DU-8163-01A-11D-2253-08		76814188	78456372	40	41198											
C1orf173	127254	broad.mit.edu	37	chr1	75038852	75038852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccttcacccagccttctgaCcccttctgcttctgctgctc	3	13	5	20	0	4	1	1	1	3	0	5	1	4	1	5	0	4	3	5	0	0	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:75038852C>A	ENST00000326665.5	-	14	2760	c.2542G>T	c.(2542-2544)Gtc>Ttc	p.V848F	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	848	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						AGCCTTCTGACCCCTTCTGCT	0.532													A	75038852	C	A	75038852	3	1	408	1	0	0	0	0	1	0	0	0	2034	507	18	4	2054	4	C1orf173	1	75038852	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		75038852	174211769	1	41199											
FUBP1	8880	broad.mit.edu	37	chr1	78430888	78430888	+	Frame_Shift_Del	DEL	A	A	-																															gctggtcttcctttttcaacAatctggtccagtaaccgttt																										TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:78430888delA	ENST00000370767.1	-	8	588	c.501delT	c.(499-501)attfs	p.I167fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I167fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I188fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	167					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTTTTTCAACAATCTGGTCCA	0.393			"F, N"		oligodendroglioma								-	78430888	A	-	78430888	7	5	408	1	0	1	0	1	0	0	0	0	6144	126	5	0	1485	0	FUBP1	1	78430888	Frame_Shift_Del	DEL	A	TCGA-DU-8164-01A-11D-2253-08	3392036	78430888	170819733	2	41200											
NUP210L	91181	broad.mit.edu	37	chr1	154062058	154062058	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctggatgatttccaattcGgaatgtgagaacctttaagg	12	12	10	7	1	0	2	0	2	0	1	2	5	1	4	3	3	1	0	3	3	4	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:154062058G>A	ENST00000368559.3	-	16	2271	c.2200C>T	c.(2200-2202)Cga>Tga	p.R734*	NUP210L_ENST00000271854.3_Nonsense_Mutation_p.R734*	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			TTTCCAATTCGGAATGTGAGA	0.423													A	154062058	G	A	154062058	4	1	408	1	0	0	0	0	0	1	0	0	10837	1124	39	1	3566	1	NUP210L	1	154062058	Nonsense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	75631170	154062058	95188563	3	41201											
FCRLA	84824	broad.mit.edu	37	chr1	161681737	161681737	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaactgtttccagcGccaattctcagagctgtacc	9	11	7	14	1	1	2	1	0	1	2	4	2	3	2	4	0	4	3	4	0	3	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:161681737G>A	ENST00000540926.1	+	5	824	c.531G>A	c.(529-531)gcG>gcA	p.A177A	FCRLA_ENST00000294796.4_Silent_p.A37A|FCRLA_ENST00000540521.1_Silent_p.A54A|FCRLA_ENST00000546024.1_Silent_p.A99A|FCRLA_ENST00000367953.3_Silent_p.A177A|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000309691.6_Silent_p.A82A|FCRLA_ENST00000236938.6_Silent_p.A188A|FCRLA_ENST00000367957.2_Silent_p.A48A|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000367959.2_Silent_p.A194A|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000349527.4_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A	171	Ig-like C2-type 2.				cell differentiation	cytoplasm|extracellular region				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			TGTTTCCAGCGCCAATTCTCA	0.527													A	161681737	G	A	161681737	2	1	408	1	0	0	0	0	0	0	0	1	5849	1074	38	1		1	FCRLA	1	161681737	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	7619679	161681737	87568884	4	41202											
CACNA1E	777	broad.mit.edu	37	chr1	181549908	181549908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtggaccactgtgctgtAcaatgtgagtagagctggtg	9	10	16	6	0	0	2	0	1	0	1	0	3	0	3	1	3	3	4	1	3	3	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr1:181549908A>G	ENST00000526775.1	+	6	1112	c.947A>G	c.(946-948)tAc>tGc	p.Y316C	CACNA1E_ENST00000360108.3_Missense_Mutation_p.Y316C|CACNA1E_ENST00000367573.2_Missense_Mutation_p.Y316C|CACNA1E_ENST00000367567.4_5'UTR|CACNA1E_ENST00000367570.1_Missense_Mutation_p.Y316C|CACNA1E_ENST00000357570.5_Missense_Mutation_p.Y267C|CACNA1E_ENST00000358338.5_Missense_Mutation_p.Y267C	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	316					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACTGTGCTGTACAATGTGAGT	0.552													G	181549908	A	G	181549908	3	3	408	1	0	0	0	0	1	0	0	0	2568	391	14	3	969	3	CACNA1E	1	181549908	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08	19868171	181549908	67700713	5	41203											
TTN	7273	broad.mit.edu	37	chr2	179435704	179435704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaactggctttcatccaaCggccctcaggtaattctttc	10	13	6	12	1	3	0	2	0	1	0	5	0	4	0	2	3	2	2	2	3	4	5			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr2:179435704C>T	ENST00000589042.1	-	326	75379	c.75155G>A	c.(75154-75156)cGt>cAt	p.R25052H	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R23411H|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R22484H|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R16179H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R15987H|TTN_ENST00000359218.5_Missense_Mutation_p.R16112H|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23411	Fibronectin type-III 82.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCATCCAACGGCCCTCAGG	0.408													T	179435704	C	T	179435704	3	4	408	1	0	0	0	0	1	0	0	0	16837	536	19	1	32972	1	TTN	2	179435704	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		179435704	63763669	6	41204											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	408	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	29677408	209113112	34086261	7	41205											
SETD2	29072	broad.mit.edu	37	chr3	47155394	47155394	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctttggcagctctcaagcCccagcctttcttttctgtga	5	15	8	13	0	4	1	1	1	4	0	5	1	4	1	3	1	3	2	3	1	1	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:47155394C>G	ENST00000409792.3	-	5	4729	c.4687G>C	c.(4687-4689)Ggc>Cgc	p.G1563R		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1563	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GCTCTCAAGCCCCAGCCTTTC	0.428			"N, F, S, Mis"		clear cell renal carcinoma								G	47155394	C	G	47155394	3	3	408	1	0	0	0	0	1	0	0	0	14224	623	22	4	3075	4	SETD2	3	47155394	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		47155394	150867036	8	41206											
TKT	7086	broad.mit.edu	37	chr3	53276233	53276233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggacagccatgatctctgCggcgctgcagcatgacgtgg	8	7	15	11	3	1	2	0	2	1	0	2	4	1	3	1	3	4	3	1	3	0	0			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:53276233C>T	ENST00000462138.1	-	2	221	c.133G>A	c.(133-135)Gca>Aca	p.A45T	TKT_ENST00000296289.6_5'UTR|TKT_ENST00000423516.1_Missense_Mutation_p.A45T|TKT_ENST00000423525.2_Missense_Mutation_p.A45T			P29401	TKT_HUMAN	transketolase	45					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity	p.A45T(1)		endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	ATGATCTCTGCGGCGCTGCAG	0.582													T	53276233	C	T	53276233	3	4	408	1	0	0	0	0	1	0	0	0	16034	768	27	1	1790	1	TKT	3	53276233	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	6120839	53276233	144746197	9	41207											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	11	12	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	5	5			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178928079	G	A	178928079	3	1	408	1	0	0	0	0	1	0	0	0	11990	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	125651846	178928079	19094351	10	41208											
IGJ	3512	broad.mit.edu	37	chr4	71527853	71527853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcctcattaggatcttcGgaagaacggatgatcctgga	11	11	11	8	2	2	2	1	1	1	1	5	6	4	6	2	4	1	0	2	4	3	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:71527853G>A	ENST00000254801.4	-	2	313	c.144C>T	c.(142-144)tcC>tcT	p.S48S	IGJ_ENST00000543780.1_Silent_p.S64S|ENAM_ENST00000472903.1_3'UTR	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	48					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAGGATCTTCGGAAGAACGGA	0.393													A	71527853	G	A	71527853	2	1	408	1	0	0	0	0	0	0	0	1	7650	1103	39	1		1	IGJ	4	71527853	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08		71527853	119626423	11	41209											
PDGFC	56034	broad.mit.edu	37	chr4	157689077	157689077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagttcttcccttatggacaCtgagaagttacgaggtgtgc	9	13	11	8	1	1	1	0	1	1	1	2	4	2	2	1	2	2	2	1	2	4	5			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr4:157689077C>T	ENST00000502773.1	-	5	1259	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	PDGFC_ENST00000504672.1_Intron|PDGFC_ENST00000541126.1_Missense_Mutation_p.V94M|PDGFC_ENST00000422544.2_Intron|PDGFC_ENST00000542208.1_Missense_Mutation_p.V102M	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	257					central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CTTATGGACACTGAGAAGTTA	0.428													T	157689077	C	T	157689077	3	4	408	1	0	0	0	0	1	0	0	0	11735	565	20	2	276	2	PDGFC	4	157689077	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	86161224	157689077	33465199	12	41210											
ARSK	153642	broad.mit.edu	37	chr5	94918892	94918892	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttcacacatctctttattGgcttgaaaaagtaagtaact	14	15	5	7	0	2	1	1	1	1	0	3	1	2	1	0	1	1	3	0	1	5	7			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr5:94918892G>T	ENST00000380009.4	+	4	894	c.689G>T	c.(688-690)tGg>tTg	p.W230L		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	230						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTCTTTATTGGCTTGAAAAA	0.313													T	94918892	G	T	94918892	3	4	408	1	0	0	0	0	1	0	0	0	1001	1357	47	4	703	4	ARSK	5	94918892	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		94918892	85996368	13	41211											
HIST1H4B	8366	broad.mit.edu	37	chr6	26027273	26027273	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctccgtgtaggtcacggCgtcccggatcacgttctcca	5	10	12	14	5	3	0	2	0	1	0	6	1	5	1	3	3	1	3	3	3	1	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:26027273C>T	ENST00000377364.3	-	1	207	c.208G>A	c.(208-210)Gcc>Acc	p.A70T		NM_003544.2	NP_003535.1	P62805	H4_HUMAN	histone cluster 1, H4b	70					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding	p.A70S(1)		large_intestine(4)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	13						TAGGTCACGGCGTCCCGGATC	0.577											OREG0017238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26027273	C	T	26027273	3	4	408	1	0	0	0	0	1	0	0	0	7221	768	27	1	107	1	HIST1H4B	6	26027273	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		26027273	145087794	14	41212											
SCUBE3	222663	broad.mit.edu	37	chr6	35208200	35208200	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaccacatatgtgtcaaCacaccaggaagcttccagtg	12	9	9	11	0	1	1	1	1	0	0	2	2	2	2	3	1	2	1	3	1	3	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:35208200C>G	ENST00000274938.7	+	9	1002	c.1002C>G	c.(1000-1002)aaC>aaG	p.N334K	SCUBE3_ENST00000394681.1_Missense_Mutation_p.N350K	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN	signal peptide, CUB domain, EGF-like 3	334	EGF-like 8; calcium-binding (Potential).				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TATGTGTCAACACACCAGGAA	0.507													G	35208200	C	G	35208200	3	3	408	1	0	0	0	0	1	0	0	0	14039	477	17	4	1036	4	SCUBE3	6	35208200	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	9180927	35208200	135906867	15	41213											
LRFN2	57497	broad.mit.edu	37	chr6	40400680	40400680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaagttgccgcccaggCgcagctccactgtccgccgg	6	7	13	15	4	0	2	0	2	0	0	2	2	2	2	5	2	2	3	5	2	1	1			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:40400680C>T	ENST00000338305.6	-	2	715	c.173G>A	c.(172-174)cGc>cAc	p.R58H		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	58						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCCGCCCAGGCGCAGCTCCAC	0.602													T	40400680	C	T	40400680	3	4	408	1	0	0	0	0	1	0	0	0	9008	768	27	1	2204	1	LRFN2	6	40400680	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	5192480	40400680	130714387	16	41214											
MEP1A	4224	broad.mit.edu	37	chr6	46801256	46801256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatggtgttcactacctcGaagtcgcacacatctccagg	10	9	9	13	2	2	0	1	0	1	0	5	1	2	0	2	2	2	3	2	2	2	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr6:46801256G>A	ENST00000230588.4	+	11	1599	c.1590G>A	c.(1588-1590)tcG>tcA	p.S530S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	530	MATH.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.S530S(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			TCACTACCTCGAAGTCGCACA	0.517													A	46801256	G	A	46801256	2	1	408	1	0	0	0	0	0	0	0	1	9550	1045	37	1		1	MEP1A	6	46801256	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	6400576	46801256	124313811	17	41215											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	408	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		55233043	103905620	18	41216											
VKORC1L1	154807	broad.mit.edu	37	chr7	65419069	65419069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcttacaggcatgacaGcaagcgctgtggcggctttg	7	11	12	11	2	1	1	0	1	1	0	2	1	1	1	0	3	3	4	0	3	2	3			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:65419069G>A	ENST00000360768.3	+	3	418	c.313G>A	c.(313-315)Gca>Aca	p.A105T	VKORC1L1_ENST00000434382.2_Missense_Mutation_p.S68N	NM_001284342.1|NM_173517.4	NP_001271271.1|NP_775788.2	Q8N0U8	VKORL_HUMAN	vitamin K epoxide reductase complex, subunit 1-like 1	105						integral to membrane				large_intestine(1)|prostate(1)	2		Lung NSC(55;0.197)			Menadione(DB00170)|Warfarin(DB00682)	AGGCATGACAGCAAGCGCTGT	0.537													A	65419069	G	A	65419069	3	1	408	1	0	0	0	0	1	0	0	0	17275	971	34	2	323	2	VKORC1L1	7	65419069	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	10186026	65419069	93719594	19	41217											
PTCD1	26024	broad.mit.edu	37	chr7	99022522	99022522	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcccctctttgccaggaCcggcaacagcgccttggccc	6	6	12	17	2	1	0	0	0	1	0	1	2	1	1	6	4	3	1	6	4	1	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr7:99022522C>A	ENST00000292478.4	-	6	1883	c.1633G>T	c.(1633-1635)Gtc>Ttc	p.V545F	PTCD1_ENST00000555673.1_Missense_Mutation_p.V594F|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.V594F	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			TTTGCCAGGACCGGCAACAGC	0.597													A	99022522	C	A	99022522	3	1	408	1	0	0	0	0	1	0	0	0	12812	507	18	4	481	4	PTCD1	7	99022522	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08	33603453	99022522	60116141	20	41218											
KIFC2	90990	broad.mit.edu	37	chr8	145692175	145692176	+	Frame_Shift_Del	DEL	AG	AG	-																															ccccggggtcgccggcgcccAgacctgcccgcgccagagct																										TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr8:145692175_145692176delAG	ENST00000301332.2	+	2	509_510	c.132_133delAG	c.(130-135)ccagacfs	p.D45fs		NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	45					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GCCGGCGCCCAGACCTGCCCGC	0.777													-	145692176	AG	-	145692175	7	5	408	1	0	1	0	1	0	0	0	0	8371	175	7	0	138	0	KIFC2	8	145692175	Frame_Shift_Del	DEL	AG	TCGA-DU-8164-01A-11D-2253-08		145692175	671847	21	41219											
FANCC	2176	broad.mit.edu	37	chr9	98009714	98009714	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacgtttttgattcttacCatatgctaaaataaaaggat	15	14	6	6	1	1	1	0	1	1	0	1	3	1	2	1	1	2	2	1	1	6	7			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:98009714C>T	ENST00000289081.3	-	3	504	c.250G>A	c.(250-252)Gat>Aat	p.D84N	FANCC_ENST00000375305.1_Splice_Site_p.D84N	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	84					protein complex assembly	cytosol|nucleoplasm	protein binding			kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				TGATTCTTACCATATGCTAAA	0.323			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	98009714	C	T	98009714	5	4	408	1	0	0	0	0	0	0	1	0	5713	608	21	2	1478	2	FANCC	9	98009714	Splice_Site	SNP	C	TCGA-DU-8164-01A-11D-2253-08		98009714	43203717	22	41220											
NIPSNAP3B	55335	broad.mit.edu	37	chr9	107531159	107531159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catagataattttgctcatcGagctgaagttcggaaagcct	12	12	9	8	2	1	2	1	1	0	1	3	4	1	3	1	1	3	3	1	1	4	5	rs141198887	byFrequency	TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr9:107531159G>A	ENST00000374762.3	+	3	358	c.287G>A	c.(286-288)cGa>cAa	p.R96Q	NIPSNAP3B_ENST00000461177.1_3'UTR	NM_018376.2	NP_060846.2	Q9BS92	NPS3B_HUMAN	nipsnap homolog 3B (C. elegans)	96										breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	11						TTTGCTCATCGAGCTGAAGTT	0.343													A	107531159	G	A	107531159	3	1	408	1	0	0	0	0	1	0	0	0	10507	1058	37	1	297	1	NIPSNAP3B	9	107531159	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	9521445	107531159	33682272	23	41221											
OR4D10	390197	broad.mit.edu	37	chr11	59245678	59245678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccctgcatctatgtctatgCccggcccttcactgccctcc	4	11	7	19	1	3	0	1	0	2	0	4	0	4	0	5	1	3	1	5	1	2	3			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:59245678C>T	ENST00000530162.1	+	1	833	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATGTCTATGCCCGGCCCTTC	0.562													T	59245678	C	T	59245678	3	4	408	1	0	0	0	0	1	0	0	0	11130	739	26	2	778	2	OR4D10	11	59245678	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		59245678	75760838	24	41222											
VEGFB	7423	broad.mit.edu	37	chr11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccaccagcgccctgAcccccggacctgccgctgcc	6	3	9	23	3	0	1	0	1	0	0	0	2	0	2	9	1	4	2	9	1	0	0			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr11:64005040A>C	ENST00000309422.2	+	6	855	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706													C	64005040	A	C	64005040	3	2	408	1	0	0	0	0	1	0	0	0	17253	275	10	5	581	5	VEGFB	11	64005040	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08	4759362	64005040	71001476	25	41223											
PTPRO	5800	broad.mit.edu	37	chr12	15654567	15654567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagccccttatccaccTcaaaatatttccgttcgtat	10	14	3	14	2	1	0	1	0	0	0	4	0	3	0	5	0	2	2	5	0	6	6			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr12:15654567T>C	ENST00000281171.4	+	5	1005	c.675T>C	c.(673-675)ccT>ccC	p.P225P	PTPRO_ENST00000543886.1_Silent_p.P225P|PTPRO_ENST00000348962.2_Silent_p.P225P	NM_030667.2	NP_109592.1	Q16827	PTPRO_HUMAN	protein tyrosine phosphatase, receptor type, O	225						integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(2)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(11)|lung(30)|ovary(2)|prostate(1)|skin(17)|upper_aerodigestive_tract(1)	74		Hepatocellular(102;0.244)				CTTATCCACCTCAAAATATTT	0.348													C	15654567	T	C	15654567	2	2	408	1	0	0	0	0	0	0	0	1	12897	1538	54	3		3	PTPRO	12	15654567	Silent	SNP	T	TCGA-DU-8164-01A-11D-2253-08		15654567	118197328	26	41224											
PDZRN4	29951	broad.mit.edu	37	chr12	41967457	41967457	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagagcagcgccgtcGccgtgagttcatgatgcgaa	10	6	14	11	5	1	3	1	2	0	1	2	4	1	3	3	1	3	2	3	1	2	1			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr12:41967457G>T	ENST00000298919.7	+	10	2484	c.2096G>T	c.(2095-2097)cGc>cTc	p.R699L	PDZRN4_ENST00000539469.2_Missense_Mutation_p.R701L|PDZRN4_ENST00000402685.2_Missense_Mutation_p.R959L			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	959							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				CAGCGCCGTCGCCGTGAGTTC	0.537													T	41967457	G	T	41967457	3	4	408	1	0	0	0	0	1	0	0	0	11786	1087	38	4	2987	4	PDZRN4	12	41967457	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08	26312890	41967457	91884438	27	41225											
TPP2	7174	broad.mit.edu	37	chr13	103290661	103290661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatcactgcagttatagcaGcaaagtaagtaacaggttac	15	9	9	8	1	1	0	1	0	0	0	1	1	1	0	0	1	5	7	0	1	6	5			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr13:103290661G>A	ENST00000376052.3	+	15	1925	c.1909G>A	c.(1909-1911)Gca>Aca	p.A637T	TPP2_ENST00000376065.4_Missense_Mutation_p.A637T			P29144	TPP2_HUMAN	tripeptidyl peptidase II	637					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AGTTATAGCAGCAAAGTAAGT	0.393													A	103290661	G	A	103290661	3	1	408	1	0	0	0	0	1	0	0	0	16513	971	34	2	1967	2	TPP2	13	103290661	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		103290661	11879217	28	41226											
RGS6	9628	broad.mit.edu	37	chr14	72961928	72961928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagctgagccatccaaccCttggatcagcgatgacgttg	10	8	10	13	2	1	2	1	2	0	0	2	4	2	3	4	1	4	2	4	1	1	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr14:72961928C>A	ENST00000553530.1	+	13	1130	c.923C>A	c.(922-924)cCt>cAt	p.P308H	RGS6_ENST00000402788.2_Missense_Mutation_p.P308H|RGS6_ENST00000555571.1_Missense_Mutation_p.P308H|RGS6_ENST00000407322.4_Missense_Mutation_p.P308H|RGS6_ENST00000406236.4_Missense_Mutation_p.P308H|RGS6_ENST00000404301.2_Missense_Mutation_p.P308H|RGS6_ENST00000556437.1_Missense_Mutation_p.P308H|RGS6_ENST00000343854.6_Intron|RGS6_ENST00000355512.6_Missense_Mutation_p.P308H|RGS6_ENST00000553525.1_Missense_Mutation_p.P308H|RGS6_ENST00000434263.2_Missense_Mutation_p.P239H|RGS6_ENST00000554782.1_Missense_Mutation_p.P169H	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	308	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCATCCAACCCTTGGATCAGC	0.443													A	72961928	C	A	72961928	3	1	408	1	0	0	0	0	1	0	0	0	13398	681	24	4	969	4	RGS6	14	72961928	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		72961928	34387612	29	41227											
ATP8B4	79895	broad.mit.edu	37	chr15	50189590	50189590	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatttgcacattcggaaatAagaccaccttccatgaacaa	16	9	6	10	1	0	2	0	1	0	1	2	4	1	3	3	1	2	1	3	1	5	4			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr15:50189590A>C	ENST00000284509.6	-	23	2737	c.2596T>G	c.(2596-2598)Tat>Gat	p.Y866D	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Y866D	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	866					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ATTCGGAAATAAGACCACCTT	0.413													C	50189590	A	C	50189590	3	2	408	1	0	0	0	0	1	0	0	0	1202	362	13	5	1006	5	ATP8B4	15	50189590	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08		50189590	52341802	30	41228											
ZNF688	146542	broad.mit.edu	37	chr16	30581515	30581515	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggccgcagtccgtgcAcacgtggcgccgctggccgg	3	4	18	16	8	0	0	0	0	0	0	1	0	1	0	4	5	1	3	4	5	0	0			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr16:30581515A>T	ENST00000223459.6	-	3	1657	c.553T>A	c.(553-555)Tgc>Agc	p.C185S	ZNF688_ENST00000395219.1_Missense_Mutation_p.C171S	NM_145271.3	NP_660314.1	P0C7X2	ZN688_HUMAN	zinc finger protein 688	185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)	8						CAGTCCGTGCACACGTGGCGC	0.687													T	30581515	A	T	30581515	3	4	408	1	0	0	0	0	1	0	0	0	18194	159	6	5	281	5	ZNF688	16	30581515	Missense_Mutation	SNP	A	TCGA-DU-8164-01A-11D-2253-08		30581515	59773238	31	41229											
HOXB8	3218	broad.mit.edu	37	chr17	46691864	46691864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcacgggttctgctggtagGgagccgtggacagcgacgac	7	6	17	11	5	1	0	0	0	1	0	1	4	1	2	1	4	3	4	1	4	1	2			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:46691864G>A	ENST00000239144.4	-	1	437	c.203C>T	c.(202-204)cCc>cTc	p.P68L	HOXB7_ENST00000567101.2_Intron|HOXB8_ENST00000576562.1_Missense_Mutation_p.P68L	NM_024016.3	NP_076921.1	P17481	HXB8_HUMAN	homeobox B8	68						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(8)|urinary_tract(2)	11						CTGCTGGTAGGGAGCCGTGGA	0.672													A	46691864	G	A	46691864	3	1	408	1	0	0	0	0	1	0	0	0	7362	1232	43	2	536	2	HOXB8	17	46691864	Missense_Mutation	SNP	G	TCGA-DU-8164-01A-11D-2253-08		46691864	34503346	32	41230											
MRC2	9902	broad.mit.edu	37	chr17	60757562	60757564	+	In_Frame_Del	DEL	ACG	ACG	-																															caatttcgaccggagccggcAcgacgacgacgacatccgag																										TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr17:60757562_60757564delACG	ENST00000303375.5	+	15	2732_2734	c.2330_2332delACG	c.(2329-2334)cacgac>cac	p.D781del		NM_006039.4	NP_006030.2	Q9UBG0	MRC2_HUMAN	mannose receptor, C type 2	781	C-type lectin 4.				endocytosis	integral to membrane	receptor activity|sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(11)|lung(28)|ovary(2)|prostate(1)|skin(3)	53						CGGAGCCGGCACGACGACGACGA	0.645													-	60757564	ACG	-	60757562	7	5	408	1	0	1	0	1	0	0	0	0	9834	159	6	0	2388	0	MRC2	17	60757562	In_Frame_Del	DEL	ACG	TCGA-DU-8164-01A-11D-2253-08	14065698	60757562	20437648	33	41231											
DCC	1630	broad.mit.edu	37	chr18	50731664	50731664	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttattacctgggaaccccCtgcctatgcaaacggtccag	9	10	8	14	1	1	0	0	0	1	0	2	1	2	1	5	2	5	1	5	2	5	3			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr18:50731664C>T	ENST00000442544.2	+	10	2268	c.1652C>T	c.(1651-1653)cCt>cTt	p.P551L	DCC_ENST00000581580.1_Missense_Mutation_p.P206L|DCC_ENST00000412726.1_Missense_Mutation_p.P399L	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	551	Fibronectin type-III 2.				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TGGGAACCCCCTGCCTATGCA	0.458													T	50731664	C	T	50731664	3	4	408	1	0	0	0	0	1	0	0	0	4316	681	24	2	1690	2	DCC	18	50731664	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		50731664	27345584	34	41232											
FEM1A	55527	broad.mit.edu	37	chr19	4792851	4792851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggcgggccatggagctgCgtcaccaggggggcgagtac	7	4	20	10	3	1	0	1	0	0	0	1	3	1	2	2	7	3	2	2	7	1	1			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:4792851C>T	ENST00000269856.3	+	1	1124	c.985C>T	c.(985-987)Cgt>Tgt	p.R329C	AC005523.2_ENST00000601192.1_RNA	NM_018708.2	NP_061178.1	Q9BSK4	FEM1A_HUMAN	fem-1 homolog a (C. elegans)	329					regulation of ubiquitin-protein ligase activity	cytoplasm	binding|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	17		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0139)		CATGGAGCTGCGTCACCAGGG	0.607													T	4792851	C	T	4792851	3	4	408	1	0	0	0	0	1	0	0	0	5858	768	27	1	987	1	FEM1A	19	4792851	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		4792851	54336132	35	41233											
RFX1	5989	broad.mit.edu	37	chr19	14083696	14083696	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgccaccgcctcccccGccgccgccgccaccaccact	4	2	6	29	6	0	0	0	0	0	0	1	0	1	0	13	0	0	0	13	0	0	0			TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr19:14083696G>C	ENST00000254325.4	-	9	1407	c.1173C>G	c.(1171-1173)ggC>ggG	p.G391G		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	391	Gly-rich.				immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			cgcctcccccgccgccgccgc	0.726													C	14083696	G	C	14083696	2	2	408	1	0	0	0	0	0	0	0	1	13350	1074	38	4		4	RFX1	19	14083696	Silent	SNP	G	TCGA-DU-8164-01A-11D-2253-08	9290845	14083696	45045287	36	41234											
ELFN2	114794	broad.mit.edu	37	chr22	37770047	37770047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagccagaccgtccccgcCggcgcctgtgcgcacctcga	5	4	12	20	7	0	1	0	0	0	1	2	3	1	1	8	1	2	1	8	1	0	0	rs143903281		TCGA-DU-8164-01A-11D-2253-08	TCGA-DU-8164-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67139b71-a2d8-4a49-a684-51a4804e294a	79381346-232e-46b8-a3fa-c93df24692ca	g.chr22:37770047C>T	ENST00000402918.2	-	3	2313	c.1528G>A	c.(1528-1530)Ggc>Agc	p.G510S	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							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)					CCGTCCCCGCCGGCGCCTGTG	0.662													T	37770047	C	T	37770047	3	4	408	1	0	0	0	0	1	0	0	0	5099	652	23	1	938	1	ELFN2	22	37770047	Missense_Mutation	SNP	C	TCGA-DU-8164-01A-11D-2253-08		37770047	13534519	37	41235											
EPHA10	284656	broad.mit.edu	37	chr1	38227727	38227727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgcggatgggacggtcgTgttcatccacgccgctgatc	6	9	14	12	6	1	1	1	1	0	0	4	3	2	3	2	3	1	2	2	3	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:38227727T>C	ENST00000373048.4	-	3	199	c.200A>G	c.(199-201)cAc>cGc	p.H67R	EPHA10_ENST00000427468.2_Missense_Mutation_p.H67R|EPHA10_ENST00000319637.6_Missense_Mutation_p.H67R	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	67						extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGACGGTCGTGTTCATCCAC	0.627													C	38227727	T	C	38227727	3	2	409	1	0	0	0	0	1	0	0	0	5207	1696	59	3	2924	3	EPHA10	1	38227727	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		38227727	211022894	1	41236											
LPHN2	23266	broad.mit.edu	37	chr1	82418675	82418675	+	Frame_Shift_Del	DEL	A	A	-																															ttcttttacttaaaagctccAaaaacgagagaagacatgca																										TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:82418675delA	ENST00000370728.1	+	12	2432	c.1787delA	c.(1786-1788)caafs	p.Q596fs	LPHN2_ENST00000370730.1_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000370717.2_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000370715.1_Intron|LPHN2_ENST00000359929.3_Intron|LPHN2_ENST00000370721.1_Intron|LPHN2_ENST00000370713.1_Intron|LPHN2_ENST00000394879.1_Intron|LPHN2_ENST00000370725.1_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000370727.1_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000335786.5_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370723.1_Intron|LPHN2_ENST00000271029.4_Frame_Shift_Del_p.Q596fs|LPHN2_ENST00000319517.6_Intron			O95490	LPHN2_HUMAN	latrophilin 2	596					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		TAAAAGCTCCAAAAACGAGAG	0.398													-	82418675	A	-	82418675	7	5	409	1	0	1	0	1	0	0	0	0	8986	145	5	0		0	LPHN2	1	82418675	Frame_Shift_Del	DEL	A	TCGA-DU-8165-01A-11D-2253-08	44190948	82418675	166831946	2	41237											
RPTN	126638	broad.mit.edu	37	chr1	152129014	152129014	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgaaatccttgtcttgTctctcagactgattgtggtg	8	15	10	8	0	3	3	1	2	2	1	5	3	4	3	1	1	1	1	1	1	2	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:152129014T>C	ENST00000316073.3	-	3	625	c.561A>G	c.(559-561)agA>agG	p.R187R		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	187	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						CCTTGTCTTGTCTCTCAGACT	0.458													C	152129014	T	C	152129014	2	2	409	1	0	0	0	0	0	0	0	1	13755	1664	58	3		3	RPTN	1	152129014	Silent	SNP	T	TCGA-DU-8165-01A-11D-2253-08	69710339	152129014	97121607	3	41238											
SLC39A1	27173	broad.mit.edu	37	chr1	153934816	153934826	+	Splice_Site	DEL	CTGGCGGGAAG	CTGGCGGGAAG	-																															cttactaggctcagggctttCtggcgggaagctgggtaggg																								rs61755890	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:153934816_153934826delCTGGCGGGAAG	ENST00000368623.3	-	2	947_957	c.188_198delCTTCCCGCCAG	c.(187-198)gcttcccgccag>g	p.ASRQ63fs	SLC39A1_ENST00000310483.6_Splice_Site_p.ASRQ63fs|SLC39A1_ENST00000368621.1_Splice_Site_p.ASRQ63fs|SLC39A1_ENST00000537590.1_Intron|SLC39A1_ENST00000356205.4_Splice_Site_p.ASRQ63fs|SLC39A1_ENST00000461071.1_5'UTR			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	63						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		TCAGGGCTTTCTGGCGGGAAGCTGGGTAGGG	0.597													-	153934826	CTGGCGGGAAG	-	153934816	8	5	409	1	0	1	0	1	0	0	1	0	14706	912	32	0	784	0	SLC39A1	1	153934816	Splice_Site	DEL	CTGGCGGGAAG	TCGA-DU-8165-01A-11D-2253-08	1805802	153934816	95315805	4	41239											
TDRD10	126668	broad.mit.edu	37	chr1	154516509	154516509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcactcatccatagcGtccgtggggaggcggggctg	5	7	18	11	3	1	0	1	0	0	0	3	1	3	1	2	7	1	3	2	7	1	1	rs143192137	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:154516509G>A	ENST00000368482.4	+	9	1412	c.574G>A	c.(574-576)Gtc>Atc	p.V192I	TDRD10_ENST00000368480.3_Missense_Mutation_p.V192I|TDRD10_ENST00000479937.1_3'UTR	NM_001098475.1|NM_182499.3	NP_001091945.1|NP_872305.3	Q5VZ19	TDR10_HUMAN	tudor domain containing 10	192							nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			CATCCATAGCGTCCGTGGGGA	0.612													A	154516509	G	A	154516509	3	1	409	1	0	0	0	0	1	0	0	0	15831	1145	40	1	604	1	TDRD10	1	154516509	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	581693	154516509	94734112	5	41240											
KIF26B	55083	broad.mit.edu	37	chr1	245862231	245862231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagattctggaacacCgccagcagaggatcgccgag	12	5	13	11	3	1	3	0	1	1	2	2	6	1	5	3	2	3	2	3	2	2	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:245862231C>T	ENST00000366518.4	+	11	5031	c.4927C>T	c.(4927-4929)Cgc>Tgc	p.R1643C	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024C			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			TCTGGAACACCGCCAGCAGAG	0.567													T	245862231	C	T	245862231	3	4	409	1	0	0	0	0	1	0	0	0	8353	652	23	1	6124	1	KIF26B	1	245862231	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	91345722	245862231	3388390	6	41241											
OR11L1	391189	broad.mit.edu	37	chr1	248004441	248004441	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catacatggagatcatggtcCcgtagtagagagtgacaaca	14	8	11	8	1	1	3	1	1	0	2	2	5	2	3	1	2	2	2	1	2	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr1:248004441C>A	ENST00000355784.2	-	1	813	c.758G>T	c.(757-759)gGg>gTg	p.G253V		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GATCATGGTCCCGTAGTAGAG	0.498													A	248004441	C	A	248004441	3	1	409	1	0	0	0	0	1	0	0	0	11006	623	22	4	214	4	OR11L1	1	248004441	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	2142210	248004441	1246180	7	41242											
C2orf40	84417	broad.mit.edu	37	chr2	106690448	106690448	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggaccggactcggccCgaggtgcagcagtggtacca	7	6	16	12	3	0	0	0	0	0	0	1	3	0	2	3	5	3	3	3	5	1	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:106690448C>G	ENST00000409944.1	+	4	357	c.126C>G	c.(124-126)ccC>ccG	p.P42P	C2orf40_ENST00000238044.3_Silent_p.P78P|C2orf40_ENST00000489174.1_3'UTR			Q9H1Z8	AUGN_HUMAN	chromosome 2 open reading frame 40	78						extracellular region|transport vesicle				lung(7)|urinary_tract(1)	8						GGACTCGGCCCGAGGTGCAGC	0.577													G	106690448	C	G	106690448	2	3	409	1	0	0	0	0	0	0	0	1	2186	639	23	4		4	C2orf40	2	106690448	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		106690448	136508925	8	41243											
SCN1A	6323	broad.mit.edu	37	chr2	166901577	166901577	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtggggaggagtacctcttTtcatatgtcaatcggttccc	7	14	11	9	1	3	0	2	0	1	0	5	2	4	2	2	4	1	2	2	4	3	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:166901577T>C	ENST00000423058.2	-	10	1655	c.1638A>G	c.(1636-1638)gaA>gaG	p.E546E	SCN1A_ENST00000303395.4_Silent_p.E546E|AC010127.3_ENST00000595647.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Silent_p.E546E|AC010127.3_ENST00000599041.1_RNA|SCN1A_ENST00000409050.1_Silent_p.E546E	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	546						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	AGTACCTCTTTTCATATGTCA	0.428													C	166901577	T	C	166901577	2	2	409	1	0	0	0	0	0	0	0	1	14007	1838	64	3		3	SCN1A	2	166901577	Silent	SNP	T	TCGA-DU-8165-01A-11D-2253-08	60211129	166901577	76297796	9	41244											
SCN7A	6332	broad.mit.edu	37	chr2	167288988	167288988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtttttctctgtgccactgCttttttccttatctttgaga	4	21	6	10	1	2	1	0	1	2	1	4	2	3	1	2	0	2	2	2	0	1	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:167288988C>T	ENST00000409855.1	-	15	2558	c.2432G>A	c.(2431-2433)aGc>aAc	p.S811N		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	811					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TGTGCCACTGCTTTTTTCCTT	0.388													T	167288988	C	T	167288988	3	4	409	1	0	0	0	0	1	0	0	0	14016	797	28	2	2660	2	SCN7A	2	167288988	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	387411	167288988	75910385	10	41245											
LRP2	4036	broad.mit.edu	37	chr2	170060647	170060647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccgtcatatttgttagctCggtaaattctttgtgtgtac	8	17	8	8	2	2	0	1	0	1	0	3	0	2	0	1	1	2	4	1	1	5	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170060647C>T	ENST00000263816.3	-	42	8135	c.7850G>A	c.(7849-7851)cGa>cAa	p.R2617Q		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2617					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R2617L(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGTTAGCTCGGTAAATTCT	0.443													T	170060647	C	T	170060647	3	4	409	1	0	0	0	0	1	0	0	0	9026	884	31	1	6269	1	LRP2	2	170060647	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	2771659	170060647	73138726	11	41246											
LRP2	4036	broad.mit.edu	37	chr2	170115593	170115593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatactgaactactgtgcGtctcgttttatcagctagcc	10	14	7	10	2	2	1	1	1	1	0	3	1	2	1	1	0	6	2	1	0	7	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:170115593G>A	ENST00000263816.3	-	17	2740	c.2455C>T	c.(2455-2457)Cgc>Tgc	p.R819C	LRP2_ENST00000443831.1_Missense_Mutation_p.R682C	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	819					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R819C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACTACTGTGCGTCTCGTTTTA	0.398													A	170115593	G	A	170115593	3	1	409	1	0	0	0	0	1	0	0	0	9026	1145	40	1	11764	1	LRP2	2	170115593	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	54946	170115593	73083780	12	41247											
COL3A1	1281	broad.mit.edu	37	chr2	189850395	189850395	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatctcttttttagggccCtcctggtattcctgggagaa	6	17	9	9	0	1	1	0	0	1	1	4	2	3	1	3	3	0	1	3	3	4	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:189850395C>G	ENST00000304636.3	+	4	508	c.338C>G	c.(337-339)cCt>cGt	p.P113R	COL3A1_ENST00000317840.5_Missense_Mutation_p.P113R	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	113					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	TTTTAGGGCCCTCCTGGTATT	0.413													G	189850395	C	G	189850395	3	3	409	1	0	0	0	0	1	0	0	0	3719	681	24	4	352	4	COL3A1	2	189850395	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	19734802	189850395	53348978	13	41248											
MARS2	92935	broad.mit.edu	37	chr2	198570143	198570143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgcaccatgctgcgaacgtCcgtcctccgcctgctaggac	6	8	10	17	4	0	0	0	0	0	0	3	2	3	1	5	1	5	3	5	1	2	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr2:198570143C>T	ENST00000282276.6	+	1	57	c.14C>T	c.(13-15)tCc>tTc	p.S5F	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	5					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CTGCGAACGTCCGTCCTCCGC	0.682													T	198570143	C	T	198570143	3	4	409	1	0	0	0	0	1	0	0	0	9392	855	30	2	16	2	MARS2	2	198570143	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	8719748	198570143	44629230	14	41249											
DCLK3	85443	broad.mit.edu	37	chr3	36779214	36779214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggttggtcatctctgaGagtcatccttctgcctccag	6	13	10	12	0	4	1	2	1	2	1	7	2	6	1	3	2	2	2	3	2	0	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:36779214G>C	ENST00000416516.2	-	2	1427	c.937C>G	c.(937-939)Ctc>Gtc	p.L313V		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	313						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						TCATCTCTGAGAGTCATCCTT	0.582													C	36779214	G	C	36779214	3	2	409	1	0	0	0	0	1	0	0	0	4327	942	33	4	1025	4	DCLK3	3	36779214	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		36779214	161243216	15	41250											
GNL3	26354	broad.mit.edu	37	chr3	52727062	52727062	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggctgatgctcgacaGgtaaaaggaccccttctcat	10	9	9	13	1	1	1	1	1	1	0	4	3	2	2	3	3	1	3	3	3	2	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:52727062G>A	ENST00000394799.2	+	10	1218	c.1008G>A	c.(1006-1008)caG>caA	p.Q336Q	GNL3_ENST00000418458.1_Splice_Site_p.Q348Q	NM_206825.1	NP_996561.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	348	G.|Intermediate (By similarity).				regulation of cell proliferation	nucleolus	GTP binding|protein binding			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATGCTCGACAGGTAAAAGGAC	0.463													A	52727062	G	A	52727062	5	1	409	1	0	0	0	0	0	0	1	0	6593	1014	35	2	1082	2	GNL3	3	52727062	Splice_Site	SNP	G	TCGA-DU-8165-01A-11D-2253-08	15947848	52727062	145295368	16	41251											
SLC7A14	57709	broad.mit.edu	37	chr3	170219060	170219060	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgccacaaattccccaaCagtgacatagctgtaggtgt	14	9	8	10	0	0	1	0	1	0	0	1	1	1	1	3	1	3	2	3	1	5	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:170219060C>A	ENST00000231706.5	-	3	694	c.379G>T	c.(379-381)Gtt>Ttt	p.V127F	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			AATTCCCCAACAGTGACATAG	0.527													A	170219060	C	A	170219060	3	1	409	1	0	0	0	0	1	0	0	0	14790	478	17	4	1960	4	SLC7A14	3	170219060	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	117491998	170219060	27803370	17	41252											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	5	1	409	1	0	0	0	0	0	0	1	0	11990	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-DU-8165-01A-11D-2253-08	8698418	178917478	19104952	18	41253											
SLIT2	9353	broad.mit.edu	37	chr4	20597371	20597371	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcgacatcgattttgaCgactgccaagacaacaagtg	13	8	9	11	3	0	2	0	1	0	1	1	5	0	2	1	0	3	0	1	0	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:20597371C>T	ENST00000504154.1	+	31	3486	c.3234C>T	c.(3232-3234)gaC>gaT	p.D1078D	SLIT2_ENST00000503823.1_Silent_p.D1070D|SLIT2_ENST00000273739.5_Silent_p.D1091D|SLIT2_ENST00000503837.1_Silent_p.D1074D	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1078	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	p.D1078D(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						TCGATTTTGACGACTGCCAAG	0.468													T	20597371	C	T	20597371	2	4	409	1	0	0	0	0	0	0	0	1	14834	535	19	1		1	SLIT2	4	20597371	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		20597371	170556905	19	41254											
DCHS2	54798	broad.mit.edu	37	chr4	155254316	155254316	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctggcgatggagtacCggatgagtccgttccgccca	6	7	16	12	5	0	1	0	1	0	0	2	4	2	3	4	4	1	3	4	4	1	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:155254316C>A	ENST00000357232.4	-	9	1546	c.1547G>T	c.(1546-1548)cGg>cTg	p.R516L	DCHS2_ENST00000507542.1_5'UTR|DCHS2_ENST00000339452.1_Missense_Mutation_p.R1015L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		GATGGAGTACCGGATGAGTCC	0.647													A	155254316	C	A	155254316	3	1	409	1	0	0	0	0	1	0	0	0	4322	652	23	4	7367	4	DCHS2	4	155254316	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	134656945	155254316	35899960	20	41255											
CCDC110	256309	broad.mit.edu	37	chr4	186380589	186380589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcatgttttgtttggtcgagGaaggacagtgtgtatcttgg	7	16	14	4	1	2	0	1	0	1	0	3	3	2	2	0	4	0	3	0	4	2	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr4:186380589G>C	ENST00000307588.3	-	6	1227	c.1152C>G	c.(1150-1152)ttC>ttG	p.F384L	CCDC110_ENST00000393540.3_Missense_Mutation_p.F347L|CCDC110_ENST00000510617.1_Missense_Mutation_p.F384L	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	384						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TTTGGTCGAGGAAGGACAGTG	0.308													C	186380589	G	C	186380589	3	2	409	1	0	0	0	0	1	0	0	0	2773	1165	41	4	1357	4	CCDC110	4	186380589	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	31126273	186380589	4773687	21	41256											
EGFLAM	133584	broad.mit.edu	37	chr5	38464022	38464022	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttcaccctgtccaccgaTtaccacatttccctcgtgga	8	11	5	17	2	1	0	1	0	0	0	4	2	3	1	5	1	1	0	5	1	1	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:38464022T>G	ENST00000322350.5	+	22	3310	c.2964T>G	c.(2962-2964)gaT>gaG	p.D988E	EGFLAM_ENST00000397210.3_Missense_Mutation_p.D131E|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D996E|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D754E|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D131E|EGFLAM_ENST00000506135.1_Missense_Mutation_p.D131E|CTD-2263F21.1_ENST00000510469.1_RNA|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D354E	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	996	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					TGTCCACCGATTACCACATTT	0.517													G	38464022	T	G	38464022	3	3	409	1	0	0	0	0	1	0	0	0	5005	1490	52	5	3064	5	EGFLAM	5	38464022	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		38464022	142451238	22	41257											
ITGA2	3673	broad.mit.edu	37	chr5	52344295	52344295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctctcagccagcttctcaCctgcaactcagcgtaagtta	10	10	7	14	1	3	0	3	0	2	0	5	0	3	0	2	0	6	5	2	0	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:52344295C>A	ENST00000296585.5	+	5	633	c.490C>A	c.(490-492)Cct>Act	p.P164T		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	164					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				CAGCTTCTCACCTGCAACTCA	0.478													A	52344295	C	A	52344295	3	1	409	1	0	0	0	0	1	0	0	0	7933	507	18	4	508	4	ITGA2	5	52344295	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	13880273	52344295	128570965	23	41258											
PCDHA7	56141	broad.mit.edu	37	chr5	140214298	140214298	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccacctggaggtgatcgtGgaaaggccgctgcaggtttt	8	10	14	9	2	0	1	0	1	0	0	2	3	1	3	3	5	1	3	3	5	1	2	rs61730625		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:140214298G>T	ENST00000525929.1	+	1	330	c.330G>T	c.(328-330)gtG>gtT	p.V110V	PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Silent_p.V110V|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGATCGTGGAAAGGCCGC	0.557													T	140214298	G	T	140214298	2	4	409	1	0	0	0	0	0	0	0	1	11605	1335	47	4		4	PCDHA7	5	140214298	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	87870003	140214298	40700962	24	41259											
NR3C1	2908	broad.mit.edu	37	chr5	142779650	142779650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaattttgggtttagtgTccggtaaaatgagaggcttg	9	15	12	5	1	0	1	0	1	0	1	1	2	1	1	2	3	0	3	2	3	4	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:142779650T>C	ENST00000343796.2	-	2	1748	c.755A>G	c.(754-756)gAc>gGc	p.D252G	NR3C1_ENST00000394466.2_Missense_Mutation_p.D252G|NR3C1_ENST00000424646.2_Missense_Mutation_p.D252G|NR3C1_ENST00000394464.2_Missense_Mutation_p.D252G|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.D252G|NR3C1_ENST00000415690.2_Missense_Mutation_p.D252G|NR3C1_ENST00000231509.3_Missense_Mutation_p.D252G|NR3C1_ENST00000503201.1_Missense_Mutation_p.D252G	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	252	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	GGGTTTAGTGTCCGGTAAAAT	0.413													C	142779650	T	C	142779650	3	2	409	1	0	0	0	0	1	0	0	0	10706	1667	58	3	1665	3	NR3C1	5	142779650	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	2565352	142779650	38135610	25	41260											
SH3RF2	153769	broad.mit.edu	37	chr5	145393444	145393444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggggcccagggtccaggagGaaggtgcctgggcagttttc	7	7	18	9	0	0	0	0	0	0	0	2	2	1	2	3	7	1	2	3	7	1	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:145393444G>A	ENST00000511217.1	+	4	931	c.879G>A	c.(877-879)agG>agA	p.R293R	SH3RF2_ENST00000359120.4_Silent_p.R293R			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	293							ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTCCAGGAGGAAGGTGCCTG	0.577													A	145393444	G	A	145393444	2	1	409	1	0	0	0	0	0	0	0	1	14353	1165	41	2		2	SH3RF2	5	145393444	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	2613794	145393444	35521816	26	41261											
TIGD6	81789	broad.mit.edu	37	chr5	149375645	149375645	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaagaatgtttttggcatgGatttcttgaaaccaagcaaa	15	12	8	6	0	1	2	0	1	1	1	1	3	1	3	1	2	2	3	1	2	5	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:149375645G>T	ENST00000296736.3	-	2	1041	c.267C>A	c.(265-267)atC>atA	p.I89I	TIGD6_ENST00000515406.2_Silent_p.I89I	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	89	HTH CENPB-type.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	DNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			TTTTGGCATGGATTTCTTGAA	0.453													T	149375645	G	T	149375645	2	4	409	1	0	0	0	0	0	0	0	1	16000	1164	41	4		4	TIGD6	5	149375645	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	3982201	149375645	31539615	27	41262											
FAT2	2196	broad.mit.edu	37	chr5	150943010	150943010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacagaggtgcccacgggAgcatcctcctggatggaggg	9	5	16	11	1	0	1	0	0	0	1	2	4	2	4	3	5	3	2	3	5	0	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr5:150943010A>G	ENST00000261800.5	-	2	3462	c.3450T>C	c.(3448-3450)gcT>gcC	p.A1150A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1150	Cadherin 10.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGCCCACGGGAGCATCCTCCT	0.542													G	150943010	A	G	150943010	2	3	409	1	0	0	0	0	0	0	0	1	5739	291	11	3		3	FAT2	5	150943010	Silent	SNP	A	TCGA-DU-8165-01A-11D-2253-08	1567365	150943010	29972250	28	41263											
FAM83B	222584	broad.mit.edu	37	chr6	54806263	54806263	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatctcctagaagaaagCattcttcctcatcgaattct	12	14	4	11	1	5	2	2	0	3	2	8	3	6	2	2	0	1	1	2	0	4	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr6:54806263C>A	ENST00000306858.7	+	5	2610	c.2494C>A	c.(2494-2496)Cat>Aat	p.H832N		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	832										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					TAGAAGAAAGCATTCTTCCTC	0.378													A	54806263	C	A	54806263	3	1	409	1	0	0	0	0	1	0	0	0	5684	710	25	4	2508	4	FAM83B	6	54806263	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		54806263	116308804	29	41264											
POM121L12	285877	broad.mit.edu	37	chr7	53103578	53103578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acttccagtgggggcgcccgGtgcccagcacccacctcatc	6	6	11	18	2	1	0	1	0	0	0	3	0	2	0	5	3	2	1	5	3	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:53103578G>T	ENST00000408890.4	+	1	230	c.214G>T	c.(214-216)Gtg>Ttg	p.V72L		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	72										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						GGGGCGCCCGGTGCCCAGCAC	0.711													T	53103578	G	T	53103578	3	4	409	1	0	0	0	0	1	0	0	0	12318	1261	44	4	216	4	POM121L12	7	53103578	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		53103578	106035085	30	41265											
CALCR	799	broad.mit.edu	37	chr7	93065307	93065307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacgtaatcatatatcttcCcaagcatcttgttggaaggt	11	14	7	9	1	4	0	2	0	2	0	5	1	5	1	1	2	1	3	1	2	5	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:93065307C>T	ENST00000359558.2	-	14	1507	c.1208G>A	c.(1207-1209)gGg>gAg	p.G403E	CALCR_ENST00000360249.4_Missense_Mutation_p.G385E|CALCR_ENST00000426151.1_Missense_Mutation_p.G369E|CALCR_ENST00000421592.1_Missense_Mutation_p.G385E|CALCR_ENST00000394441.1_Missense_Mutation_p.G369E	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	385					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	ATATATCTTCCCAAGCATCTT	0.453													T	93065307	C	T	93065307	3	4	409	1	0	0	0	0	1	0	0	0	2605	623	22	2	330	2	CALCR	7	93065307	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	39961729	93065307	66073356	31	41266											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97922907	97922907	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggcaaaggggttttctcCgctgcaggggataagaaaaa	13	8	14	6	1	1	1	0	0	1	1	2	2	1	2	1	5	1	4	1	5	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:97922907C>T	ENST00000005260.8	-	14	1677	c.1462G>A	c.(1462-1464)Gga>Aga	p.G488R		NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	488	Binds F-actin.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			GGGTTTTCTCCGCTGCAGGGG	0.527													T	97922907	C	T	97922907	5	4	409	1	0	0	0	0	0	0	1	0	1307	666	23	1	77	1	BAIAP2L1	7	97922907	Splice_Site	SNP	C	TCGA-DU-8165-01A-11D-2253-08	4857600	97922907	61215756	32	41267											
FLNC	2318	broad.mit.edu	37	chr7	128494111	128494111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctacacccgcacggagCgcacggagatcagcaagacg	13	2	11	15	5	1	2	1	0	0	2	1	4	1	3	2	2	3	3	2	2	2	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr7:128494111C>T	ENST00000325888.8	+	40	6829	c.6568C>T	c.(6568-6570)Cgc>Tgc	p.R2190C	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R2157C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2190	Intradomain insert.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCGCACGGAGCGCACGGAGAT	0.657													T	128494111	C	T	128494111	3	4	409	1	0	0	0	0	1	0	0	0	5984	768	27	1	6726	1	FLNC	7	128494111	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	30571204	128494111	30644552	33	41268											
ZFHX4	79776	broad.mit.edu	37	chr8	77617899	77617899	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggtacctcgtcctccTcggcgactgtttctgatgac	8	11	10	12	3	1	2	0	2	1	0	5	3	3	2	3	2	1	2	3	2	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:77617899T>G	ENST00000521891.2	+	2	2024	c.1576T>G	c.(1576-1578)Tcg>Gcg	p.S526A	ZFHX4_ENST00000518282.1_Missense_Mutation_p.S526A|ZFHX4_ENST00000455469.2_Missense_Mutation_p.S526A|ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000050961.6_Missense_Mutation_p.S526A	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	526	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			CTCGTCCTCCTCGGCGACTGT	0.428										HNSCC(33;0.089)			G	77617899	T	G	77617899	3	3	409	1	0	0	0	0	1	0	0	0	17736	1551	54	5	1578	5	ZFHX4	8	77617899	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		77617899	68746123	34	41269											
MATN2	4147	broad.mit.edu	37	chr8	99019780	99019780	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggacagatcctttgcctgTcagtgtcctgagggacacgt	8	11	12	10	1	1	2	1	1	0	1	3	4	3	4	3	2	1	0	3	2	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:99019780T>G	ENST00000254898.5	+	10	1755	c.1524T>G	c.(1522-1524)tgT>tgG	p.C508W	MATN2_ENST00000521689.1_Missense_Mutation_p.C508W|MATN2_ENST00000520016.1_Missense_Mutation_p.C508W|MATN2_ENST00000524308.1_Missense_Mutation_p.C467W|MATN2_ENST00000522025.2_Missense_Mutation_p.C224W	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	508	EGF-like 7.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTTTGCCTGTCAGTGTCCTG	0.557													G	99019780	T	G	99019780	3	3	409	1	0	0	0	0	1	0	0	0	9409	1673	58	5	1558	5	MATN2	8	99019780	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	21401881	99019780	47344242	35	41270											
COL22A1	169044	broad.mit.edu	37	chr8	139793188	139793188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcatgcctttgctgccGtctctcccaggggggccggg	3	10	13	15	2	2	0	1	0	2	0	5	0	3	0	4	4	3	1	4	4	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr8:139793188G>A	ENST00000303045.6	-	13	2078	c.1632C>T	c.(1630-1632)gaC>gaT	p.D544D	COL22A1_ENST00000435777.1_Silent_p.D544D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	544	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTTTGCTGCCGTCTCTCCCAG	0.527										HNSCC(7;0.00092)			A	139793188	G	A	139793188	2	1	409	1	0	0	0	0	0	0	0	1	3712	1136	40	1		1	COL22A1	8	139793188	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	40773408	139793188	6570834	36	41271											
GRIN3A	116443	broad.mit.edu	37	chr9	104341582	104341582	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcaaaatggacagacCaaatccaatgcacagcagca	16	5	10	10	0	1	1	1	0	0	1	2	2	2	2	2	3	3	3	2	3	4	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr9:104341582C>G	ENST00000361820.3	-	7	3427	c.2827G>C	c.(2827-2829)Ggt>Cgt	p.G943R		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	943					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	ATGGACAGACCAAATCCAATG	0.448													G	104341582	C	G	104341582	3	3	409	1	0	0	0	0	1	0	0	0	6838	594	21	4	532	4	GRIN3A	9	104341582	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		104341582	36871849	37	41272											
OR52I2	143502	broad.mit.edu	37	chr11	4608347	4608347	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctggctgctgtggacattgTtatggcctcctcggtggtac	4	14	13	10	1	1	0	0	0	1	0	3	1	2	1	2	5	2	4	2	5	2	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4608347T>C	ENST00000312614.4	+	1	327	c.305T>C	c.(304-306)gTt>gCt	p.V102A		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTGGACATTGTTATGGCCTCC	0.483													C	4608347	T	C	4608347	3	2	409	1	0	0	0	0	1	0	0	0	11197	1725	60	3	307	3	OR52I2	11	4608347	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		4608347	130398169	38	41273											
OR51A2	401667	broad.mit.edu	37	chr11	4976474	4976474	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggaagggaagaaccAggagcatgctcttaaaggag	16	5	15	5	0	1	2	0	1	1	1	1	6	1	6	1	4	3	2	1	4	6	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:4976474A>T	ENST00000380371.1	-	1	469	c.470T>A	c.(469-471)cTg>cAg	p.L157Q	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004748.1	NP_001004748.1	Q8NGJ7	O51A2_HUMAN	olfactory receptor, family 51, subfamily A, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;3.22e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGAAGAACCAGGAGCATGCT	0.438													T	4976474	A	T	4976474	3	4	409	1	0	0	0	0	1	0	0	0	11162	188	7	5	473	5	OR51A2	11	4976474	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	368127	4976474	130030042	39	41274											
OR52E8	390079	broad.mit.edu	37	chr11	5878650	5878650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaaaagatatttctttggTattgaaccagaagatgccca	14	12	7	8	0	1	4	0	1	1	3	2	4	2	4	3	1	2	1	3	1	6	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:5878650T>C	ENST00000537935.1	-	1	314	c.283A>G	c.(283-285)Acc>Gcc	p.T95A	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATTTCTTTGGTATTGAACCAG	0.473													C	5878650	T	C	5878650	3	2	409	1	0	0	0	0	1	0	0	0	11194	1638	57	3	672	3	OR52E8	11	5878650	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	902176	5878650	129127866	40	41275											
ANO1	55107	broad.mit.edu	37	chr11	69950226	69950226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccagaccatgaagagactctCctatcccttctcccgggaga	10	8	8	15	1	2	4	0	1	2	3	5	6	3	4	5	1	0	0	5	1	2	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:69950226C>T	ENST00000355303.5	+	4	967	c.662C>T	c.(661-663)tCc>tTc	p.S221F	ANO1_ENST00000538023.1_Missense_Mutation_p.S221F|ANO1_ENST00000530676.1_Missense_Mutation_p.S105F|ANO1_ENST00000398543.2_Missense_Mutation_p.S105F|ANO1_ENST00000316296.5_Missense_Mutation_p.S193F	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	221					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AAGAGACTCTCCTATCCCTTC	0.542													T	69950226	C	T	69950226	3	4	409	1	0	0	0	0	1	0	0	0	695	855	30	2	676	2	ANO1	11	69950226	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	64071576	69950226	65056290	41	41276											
SHANK2	22941	broad.mit.edu	37	chr11	70319315	70319315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggctaaagacatctgagaGagcgggagaaggagaggcgg	15	3	18	5	2	1	5	0	1	1	4	1	8	1	5	0	5	1	1	0	5	4	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:70319315G>C	ENST00000338508.4	-	33	5211	c.5212C>G	c.(5212-5214)Ctc>Gtc	p.L1738V	SHANK2_ENST00000449833.2_Missense_Mutation_p.L1142V|SHANK2_ENST00000409161.1_Missense_Mutation_p.L1141V|SHANK2_ENST00000423696.2_Missense_Mutation_p.L1358V			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1358					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding	p.L1142V(1)|p.L1738V(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			ACATCTGAGAGAGCGGGAGAA	0.602													C	70319315	G	C	70319315	3	2	409	1	0	0	0	0	1	0	0	0	14359	942	33	4	344	4	SHANK2	11	70319315	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	369089	70319315	64687201	42	41277											
MMP8	4317	broad.mit.edu	37	chr11	102587093	102587093	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagcatcaaatgtcaaactgGggtcacagggtttgggtgtg	10	11	14	6	0	3	0	3	0	0	0	3	0	3	0	0	4	2	2	0	4	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr11:102587093G>T	ENST00000236826.3	-	6	940	c.842C>A	c.(841-843)cCc>cAc	p.P281H		NM_002424.2	NP_002415.1	P22894	MMP8_HUMAN	matrix metallopeptidase 8 (neutrophil collagenase)	281					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(4)|skin(6)|stomach(1)|urinary_tract(1)	32	all_cancers(8;0.00092)|all_epithelial(12;0.00389)|Lung NSC(15;0.227)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0555)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.189)	BRCA - Breast invasive adenocarcinoma(274;0.0141)		TGTCAAACTGGGGTCACAGGG	0.363													T	102587093	G	T	102587093	3	4	409	1	0	0	0	0	1	0	0	0	9744	1232	43	4	581	4	MMP8	11	102587093	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	32267778	102587093	32419423	43	41278											
ADAMTS20	80070	broad.mit.edu	37	chr12	43822162	43822162	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttagataatagcttggcTgcacaggggaactaggaaag	13	9	13	6	0	0	1	0	0	0	1	0	3	0	3	0	4	4	4	0	4	6	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:43822162T>A	ENST00000389420.3	-	26	3826	c.3827A>T	c.(3826-3828)cAg>cTg	p.Q1276L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.Q1276L|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.Q394L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1276						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATAGCTTGGCTGCACAGGGGA	0.468													A	43822162	T	A	43822162	3	1	409	1	0	0	0	0	1	0	0	0	266	1580	55	5	1960	5	ADAMTS20	12	43822162	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		43822162	90029733	44	41279											
OR9K2	441639	broad.mit.edu	37	chr12	55524375	55524375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgggagttgtgagtGtgctgtatggtgctgtcttt	4	16	14	7	0	2	1	1	1	1	0	2	2	2	2	1	2	2	4	1	2	1	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:55524375G>A	ENST00000305377.5	+	1	911	c.823G>A	c.(823-825)Gtg>Atg	p.V275M		NM_001005243.1	NP_001005243.1	Q8NGE7	OR9K2_HUMAN	olfactory receptor, family 9, subfamily K, member 2	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(3)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(2)	31						AGTTGTGAGTGTGCTGTATGG	0.438													A	55524375	G	A	55524375	3	1	409	1	0	0	0	0	1	0	0	0	11330	1377	48	2	825	2	OR9K2	12	55524375	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	11702213	55524375	78327520	45	41280											
LRRIQ1	84125	broad.mit.edu	37	chr12	85521757	85521757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaaagaaaggaaaaagAgaaaatattgtgaatatccg	21	10	8	2	1	0	3	0	1	0	2	1	5	1	4	1	1	0	0	1	1	10	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:85521757A>T	ENST00000393217.2	+	18	4216	c.4155A>T	c.(4153-4155)agA>agT	p.R1385S		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1385										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AAGGAAAAAGAGAAAATATTG	0.353													T	85521757	A	T	85521757	3	4	409	1	0	0	0	0	1	0	0	0	9099	301	11	5	4225	5	LRRIQ1	12	85521757	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	29997382	85521757	48330138	46	41281											
ATP6V0A2	23545	broad.mit.edu	37	chr12	124228804	124228804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgatgtttggagacttcGgacatggctttgtgatgttt	6	17	13	5	1	0	3	0	2	0	1	1	5	0	4	0	3	0	3	0	3	0	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr12:124228804G>A	ENST00000330342.3	+	11	1494	c.1246G>A	c.(1246-1248)Gga>Aga	p.G416R		NM_012463.3	NP_036595.2	Q9Y487	VPP2_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a2	416					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|immune response|insulin receptor signaling pathway|transferrin transport	endosome membrane|integral to membrane|plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(10)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.000625)|all cancers(50;0.00775)		TGGAGACTTCGGACATGGCTT	0.373													A	124228804	G	A	124228804	3	1	409	1	0	0	0	0	1	0	0	0	1174	1117	39	1	1288	1	ATP6V0A2	12	124228804	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	38707047	124228804	9623091	47	41282											
ERO1L	30001	broad.mit.edu	37	chr14	53138414	53138414	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaagaacagccttctgtgTttcctcacttcaaacaaaga	13	11	6	11	0	3	3	2	1	1	2	4	3	4	3	2	0	3	1	2	0	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr14:53138414T>C	ENST00000395686.3	-	6	665	c.442A>G	c.(442-444)Aca>Gca	p.T148A		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	148					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					GCCTTCTGTGTTTCCTCACTT	0.284													C	53138414	T	C	53138414	3	2	409	1	0	0	0	0	1	0	0	0	5280	1725	60	3	1008	3	ERO1L	14	53138414	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		53138414	54211126	48	41283											
DMXL2	23312	broad.mit.edu	37	chr15	51773679	51773679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctatgaggttaattttaTcaacaaagttcttctcagtt	11	19	5	6	0	4	1	2	1	3	0	5	1	4	1	0	1	1	3	0	1	5	8			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr15:51773679T>C	ENST00000251076.5	-	24	5911	c.5624A>G	c.(5623-5625)gAt>gGt	p.D1875G	DMXL2_ENST00000449909.3_Missense_Mutation_p.D1239G|RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.D1875G	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1875						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GTTAATTTTATCAACAAAGTT	0.378													C	51773679	T	C	51773679	3	2	409	1	0	0	0	0	1	0	0	0	4634	1435	50	3	3569	3	DMXL2	15	51773679	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		51773679	50757713	49	41284											
ZNF200	7752	broad.mit.edu	37	chr16	3282875	3282875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagacactgtctcttgttcCttttggactcctttgggcag	6	15	10	10	0	1	1	0	0	1	1	4	3	3	2	2	2	0	2	2	2	0	5			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:3282875C>T	ENST00000431561.3	-	3	909	c.297G>A	c.(295-297)aaG>aaA	p.K99K	ZNF200_ENST00000414144.2_Silent_p.K99K|ZNF200_ENST00000396870.4_Silent_p.K99K|ZNF200_ENST00000396868.3_Silent_p.K99K|ZNF200_ENST00000575948.1_Silent_p.K99K|ZNF200_ENST00000396871.4_Silent_p.K99K	NM_001145447.1|NM_003454.3	NP_001138919.1|NP_003445.2	P98182	ZN200_HUMAN	zinc finger protein 200	99					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(4)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	17						TCTCTTGTTCCTTTTGGACTC	0.478													T	3282875	C	T	3282875	2	4	409	1	0	0	0	0	0	0	0	1	17863	680	24	2		2	ZNF200	16	3282875	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		3282875	87071878	50	41285											
USP31	57478	broad.mit.edu	37	chr16	23085199	23085199	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtccacagagttcttacagtAcgctgccaaagagagcccgc	11	7	10	13	2	1	2	0	0	1	2	2	3	2	2	3	0	4	3	3	0	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:23085199A>G	ENST00000219689.7	-	14	2178	c.2179T>C	c.(2179-2181)Tac>Cac	p.Y727H		NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	727					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		TTCTTACAGTACGCTGCCAAA	0.542													G	23085199	A	G	23085199	3	3	409	1	0	0	0	0	1	0	0	0	17164	391	14	3	1891	3	USP31	16	23085199	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	19802324	23085199	67269554	51	41286											
SBK1	388228	broad.mit.edu	37	chr16	28331420	28331420	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggctccctgaggacacggtGaagcgctgtgtgcagcagct	7	7	16	11	2	0	2	0	2	0	0	1	3	1	3	1	3	4	5	1	3	1	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:28331420G>C	ENST00000341901.4	+	4	1242	c.453G>C	c.(451-453)gtG>gtC	p.V151V		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	151	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						AGGACACGGTGAAGCGCTGTG	0.716													C	28331420	G	C	28331420	2	2	409	1	0	0	0	0	0	0	0	1	13952	1277	45	4		4	SBK1	16	28331420	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5246221	28331420	62023333	52	41287											
IRX6	79190	broad.mit.edu	37	chr16	55362679	55362679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacctggaggaagaggaGgaggaggaggaggaagctga	15	2	21	3	0	0	3	0	1	0	2	0	12	0	11	1	8	1	1	1	8	3	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr16:55362679G>A	ENST00000290552.7	+	5	2121	c.789G>A	c.(787-789)gaG>gaA	p.E263E	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	263						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						aggaagaggaggaggaggagg	0.627													A	55362679	G	A	55362679	2	1	409	1	0	0	0	0	0	0	0	1	7906	991	35	2		2	IRX6	16	55362679	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	27031259	55362679	34992074	53	41288											
PAFAH1B1	5048	broad.mit.edu	37	chr17	2569347	2569347	+	Frame_Shift_Del	DEL	A	A	-																															aaagtatgctggtcttttggAaaaaaaatggacatctgtta																								rs113994198		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:2569347delA	ENST00000397195.5	+	4	606	c.155delA	c.(154-156)gaafs	p.E52fs	PAFAH1B1_ENST00000572915.2_Intron	NM_000430.3	NP_000421.1	P43034	LIS1_HUMAN	platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)	52	Interaction with NDE1 (By similarity).|Interaction with NDEL1 (By similarity).				acrosome assembly|actin cytoskeleton organization|adult locomotory behavior|brain morphogenesis|corpus callosum morphogenesis|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|hippocampus development|layer formation in cerebral cortex|learning or memory|lipid catabolic process|microtubule organizing center organization|mitotic prometaphase|neuroblast proliferation|neuromuscular process controlling balance|neuron migration|platelet activating factor metabolic process|regulation of Rho GTPase activity|retrograde axon cargo transport|synaptic transmission|vesicle transport along microtubule	astral microtubule|cell cortex|centrosome|cytosol|kinetochore|motile primary cilium|nuclear membrane|perinuclear region of cytoplasm	dynactin binding|heparin binding|microtubule binding|phospholipase binding|phosphoprotein binding|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						GGTCTTTTGGAAAAAAAATGG	0.244													-	2569347	A	-	2569347	7	5	409	1	0	1	0	1	0	0	0	0	11460	246	9	0	165	0	PAFAH1B1	17	2569347	Frame_Shift_Del	DEL	A	TCGA-DU-8165-01A-11D-2253-08		2569347	78625863	54	41289											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	409	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5007774	7577121	73618089	55	41290											
TP53	7157	broad.mit.edu	37	chr17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagatggccatggcgcGgacgcgggtgccgggcgggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:7578458G>T	ENST00000420246.2	-	5	604	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000413465.2_Missense_Mutation_p.R158S|TP53_ENST00000269305.4_Missense_Mutation_p.R158S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			T	7578458	G	T	7578458	3	4	409	1	0	0	0	0	1	0	0	0	16482	1116	39	4	826	4	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	1337	7578458	73616752	56	41291											
WDR16	146845	broad.mit.edu	37	chr17	9546373	9546373	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggtcaaagtttgggattAtaatgagggtgaagtgactc	11	13	13	4	0	2	3	1	3	1	0	3	4	2	4	0	3	0	1	0	3	4	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:9546373A>G	ENST00000352665.5	+	14	1790	c.1721A>G	c.(1720-1722)tAt>tGt	p.Y574C	WDR16_ENST00000396219.3_Missense_Mutation_p.Y506C|RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.Y584C	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	574						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						GTTTGGGATTATAATGAGGGT	0.433													G	9546373	A	G	9546373	3	3	409	1	0	0	0	0	1	0	0	0	17378	449	16	3	1775	3	WDR16	17	9546373	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	1967915	9546373	71648837	57	41292											
HNF1B	6928	broad.mit.edu	37	chr17	36093613	36093613	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggttcttttgccgatcgtagGcctggtacaagatttgctgg	6	14	13	8	2	1	1	0	0	1	1	2	2	1	1	2	4	3	4	2	4	3	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr17:36093613G>T	ENST00000225893.4	-	3	1107	c.746C>A	c.(745-747)gCc>gAc	p.A249D	HNF1B_ENST00000427275.2_Missense_Mutation_p.A223D|HNF1B_ENST00000561193.1_Missense_Mutation_p.A223D|HNF1B_ENST00000560016.1_Missense_Mutation_p.A249D	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	249					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGATCGTAGGCCTGGTACAA	0.582													T	36093613	G	T	36093613	3	4	409	1	0	0	0	0	1	0	0	0	7307	1203	42	4	955	4	HNF1B	17	36093613	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	26547240	36093613	45101597	58	41293											
PTPRM	5797	broad.mit.edu	37	chr18	8113636	8113636	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatttcctgcagacagccTccaagctgcgcagcctttta	10	10	8	13	1	0	2	0	0	0	2	2	2	2	2	4	0	5	3	4	0	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:8113636T>A	ENST00000332175.8	+	12	3046	c.2009T>A	c.(2008-2010)cTc>cAc	p.L670H	PTPRM_ENST00000580170.1_Missense_Mutation_p.L670H|PTPRM_ENST00000400053.4_Missense_Mutation_p.L608H|PTPRM_ENST00000444013.1_Missense_Mutation_p.L457H|PTPRM_ENST00000400060.4_Missense_Mutation_p.L670H	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	670	Fibronectin type-III 4.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GCAGACAGCCTCCAAGCTGCG	0.418													A	8113636	T	A	8113636	3	1	409	1	0	0	0	0	1	0	0	0	12894	1551	54	5	2055	5	PTPRM	18	8113636	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08		8113636	69963612	59	41294											
DSG1	1828	broad.mit.edu	37	chr18	28935112	28935112	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctggttggcaccagcatgGgtgctgggagcggtgccctg	4	8	18	11	1	0	0	0	0	0	0	0	1	0	1	3	5	4	4	3	5	0	1			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr18:28935112G>T	ENST00000257192.4	+	15	3165	c.2953G>T	c.(2953-2955)Ggt>Tgt	p.G985C	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.G344C	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	985	Gly/Ser-rich.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCAGCATGGGTGCTGGGAG	0.602													T	28935112	G	T	28935112	3	4	409	1	0	0	0	0	1	0	0	0	4815	1232	43	4	3011	4	DSG1	18	28935112	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	20821476	28935112	49142136	60	41295											
B3GNT3	10331	broad.mit.edu	37	chr19	17922692	17922692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccatgtcttggacatcttcCccattgatgatgtcttcctg	6	15	7	13	0	3	2	0	2	3	0	5	3	5	3	4	1	0	0	4	1	0	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:17922692C>A	ENST00000318683.6	+	3	1027	c.880C>A	c.(880-882)Ccc>Acc	p.P294T	B3GNT3_ENST00000595387.1_Missense_Mutation_p.P294T	NM_014256.3	NP_055071.2	Q9Y2A9	B3GN3_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 3	294					protein glycosylation	Golgi membrane|integral to plasma membrane	galactosyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	21						GGACATCTTCCCCATTGATGA	0.622													A	17922692	C	A	17922692	3	1	409	1	0	0	0	0	1	0	0	0	1263	623	22	4	886	4	B3GNT3	19	17922692	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08		17922692	41206291	61	41296											
ZNF536	9745	broad.mit.edu	37	chr19	31040286	31040286	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgccaaagccggagcggGggccccagagcctggacaag	9	2	16	14	2	0	1	0	0	0	1	0	3	0	3	6	4	4	0	6	4	2	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:31040286G>T	ENST00000355537.3	+	4	3907	c.3760G>T	c.(3760-3762)Ggg>Tgg	p.G1254W		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCGGAGCGGGGGCCCCAGAG	0.607													T	31040286	G	T	31040286	3	4	409	1	0	0	0	0	1	0	0	0	18075	1232	43	4	3770	4	ZNF536	19	31040286	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	13117594	31040286	28088697	62	41297											
ATP4A	495	broad.mit.edu	37	chr19	36046429	36046429	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggtgggtgcgcagggcctcGaccagttccgatgggtccat	5	8	17	11	3	0	0	0	0	0	0	3	2	2	0	4	4	1	2	4	4	0	1	rs150964145	byFrequency	TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:36046429G>C	ENST00000262623.3	-	14	2098	c.2070C>G	c.(2068-2070)gtC>gtG	p.V690V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	690					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GCAGGGCCTCGACCAGTTCCG	0.657													C	36046429	G	C	36046429	2	2	409	1	0	0	0	0	0	0	0	1	1150	1045	37	4		4	ATP4A	19	36046429	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	5006143	36046429	23082554	63	41298											
PSG11	5680	broad.mit.edu	37	chr19	43519344	43519344	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcaagcatagagcccAttatgctttggagtaatctg	12	10	11	8	0	1	2	0	0	1	2	1	3	1	3	1	1	4	5	1	1	4	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:43519344A>G	ENST00000401740.1	-	4	991	c.888T>C	c.(886-888)aaT>aaC	p.N296N	PSG11_ENST00000320078.7_Silent_p.N296N|PSG11_ENST00000306322.7_Silent_p.N174N|PSG11_ENST00000403486.1_Silent_p.N174N			Q9UQ72	PSG11_HUMAN	pregnancy specific beta-1-glycoprotein 11	296	Ig-like C2-type 2.				female pregnancy	extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	26		Prostate(69;0.00682)				CATAGAGCCCATTATGCTTTG	0.463													G	43519344	A	G	43519344	2	3	409	1	0	0	0	0	0	0	0	1	12739	214	8	3		3	PSG11	19	43519344	Silent	SNP	A	TCGA-DU-8165-01A-11D-2253-08	7472915	43519344	15609639	64	41299											
LILRA4	23547	broad.mit.edu	37	chr19	54849804	54849804	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttttcagactccagtgttTttaatatgtgcctcgacatt	8	18	7	8	1	1	1	1	0	0	1	3	2	2	1	2	0	1	2	2	0	2	7			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr19:54849804T>A	ENST00000291759.4	-	3	274	c.218A>T	c.(217-219)aAa>aTa	p.K73I		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	73	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CTCCAGTGTTTTTAATATGTG	0.522													A	54849804	T	A	54849804	3	1	409	1	0	0	0	0	1	0	0	0	8847	1841	64	5	1305	5	LILRA4	19	54849804	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	11330460	54849804	4279179	65	41300											
PLCB1	23236	broad.mit.edu	37	chr20	8737747	8737747	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgaagcgagaacgactccaGcagaaaatggggtgaatcac	15	5	13	8	2	1	4	1	2	0	2	2	6	2	4	1	2	3	1	1	2	5	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:8737747G>T	ENST00000378641.3	+	24	3053	c.2578G>T	c.(2578-2580)Gca>Tca	p.A860S	PLCB1_ENST00000338037.6_Missense_Mutation_p.A860S|PLCB1_ENST00000494924.1_3'UTR|PLCB1_ENST00000378637.2_Missense_Mutation_p.A860S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	860					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						AACGACTCCAGCAGAAAATGG	0.478													T	8737747	G	T	8737747	3	4	409	1	0	0	0	0	1	0	0	0	12104	971	34	4	2672	4	PLCB1	20	8737747	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		8737747	54287773	66	41301											
SSTR4	6754	broad.mit.edu	37	chr20	23016128	23016128	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcacccctggtcatgagcgCcccctcgacgctgccccccg	4	5	11	21	4	1	1	1	1	0	0	2	2	1	1	7	2	2	2	7	2	0	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:23016128C>T	ENST00000255008.3	+	1	72	c.8C>T	c.(7-9)gCc>gTc	p.A3V	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	3					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GTCATGAGCGCCCCCTCGACG	0.786													T	23016128	C	T	23016128	3	4	409	1	0	0	0	0	1	0	0	0	15296	739	26	2	10	2	SSTR4	20	23016128	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	14278381	23016128	40009392	67	41302											
ATP9A	10079	broad.mit.edu	37	chr20	50224091	50224091	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatgctaatcaaaacccaTattaagaatgtcttgtagga	16	12	7	6	0	2	2	1	0	1	2	2	3	2	3	1	1	2	2	1	1	8	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr20:50224091T>C	ENST00000338821.5	-	26	3042	c.2778A>G	c.(2776-2778)atA>atG	p.I926M	ATP9A_ENST00000311637.5_Missense_Mutation_p.I790M|ATP9A_ENST00000402822.1_Missense_Mutation_p.I805M	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	926					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TCAAAACCCATATTAAGAATG	0.498													C	50224091	T	C	50224091	3	2	409	1	0	0	0	0	1	0	0	0	1203	1396	49	3	377	3	ATP9A	20	50224091	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	27207963	50224091	12801429	68	41303											
BAGE2	85319	broad.mit.edu	37	chr21	11047522	11047522	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtacagatttcataattcGttgaagacaaaaagtatgat	16	13	8	4	1	1	4	1	2	0	2	2	4	1	4	0	1	1	3	0	1	6	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr21:11047522G>A	ENST00000470054.1	-	0	732									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTCATAATTCGTTGAAGACAA	0.353													A	11047522	G	A	11047522	1	1	409	0	1	0	0	0	0	0	0	0	1297	1160	40	1		1	BAGE2	21	11047522	RNA	SNP	G	TCGA-DU-8165-01A-11D-2253-08		11047522	37082373	69	41304											
GAB4	128954	broad.mit.edu	37	chr22	17473039	17473039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgctagtctggcccctccGcaggataaaccagcgtttcc	8	9	9	15	2	1	0	0	0	1	0	3	1	3	1	5	2	3	3	5	2	3	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chr22:17473039G>A	ENST00000400588.1	-	2	309	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W	GAB4_ENST00000523144.1_5'UTR	NM_001037814.1	NP_001032903.1	Q2WGN9	GAB4_HUMAN	GRB2-associated binding protein family, member 4	68	PH.									breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(24)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44		all_epithelial(15;0.112)|Lung NSC(13;0.248)				TGGCCCCTCCGCAGGATAAAC	0.493													A	17473039	G	A	17473039	3	1	409	1	0	0	0	0	1	0	0	0	6203	1086	38	1	1558	1	GAB4	22	17473039	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08		17473039	33831527	70	41305											
TLR8	51311	broad.mit.edu	37	chrX	12938644	12938644	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctcaacagtattttcttCattgggccaaaccaatttga	12	13	6	10	0	3	1	2	1	1	0	3	1	3	1	3	1	3	1	3	1	4	6			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:12938644C>T	ENST00000218032.6	+	2	1572	c.1485C>T	c.(1483-1485)ttC>ttT	p.F495F	TLR8_ENST00000311912.5_Silent_p.F513F	NM_138636.4	NP_619542.1	Q9NR97	TLR8_HUMAN	toll-like receptor 8	495					cellular response to mechanical stimulus|defense response to virus|I-kappaB kinase/NF-kappaB cascade|immunoglobulin mediated immune response|inflammatory response|innate immune response|positive regulation of innate immune response|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process	endosome membrane	DNA binding|double-stranded RNA binding|single-stranded RNA binding|transmembrane receptor activity	p.F513F(1)		breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTATTTTCTTCATTGGGCCAA	0.378													T	12938644	C	T	12938644	2	4	409	1	0	0	0	0	0	0	0	1	16057	825	29	2		2	TLR8	23	12938644	Silent	SNP	C	TCGA-DU-8165-01A-11D-2253-08		12938644	142331916	71	41306											
CXorf23	256643	broad.mit.edu	37	chrX	19955647	19955647	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaactggaattctgatcAtccctaataaggaaacagag	18	8	8	7	0	2	2	1	1	1	1	3	5	3	4	1	2	2	0	1	2	6	3			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:19955647A>C	ENST00000379687.3	-	8	1782	c.1749T>G	c.(1747-1749)gaT>gaG	p.D583E	CXorf23_ENST00000356980.3_Missense_Mutation_p.D583E|CXorf23_ENST00000379682.4_Missense_Mutation_p.D583E	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	583						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						AATTCTGATCATCCCTAATAA	0.259													C	19955647	A	C	19955647	3	2	409	1	0	0	0	0	1	0	0	0	4136	214	8	5	315	5	CXorf23	23	19955647	Missense_Mutation	SNP	A	TCGA-DU-8165-01A-11D-2253-08	7017003	19955647	135314913	72	41307											
FAM47C	442444	broad.mit.edu	37	chrX	37027101	37027101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcctcccaagactccGgtgtccagtctccgcccgga	6	6	11	18	4	1	1	0	0	1	1	5	3	4	3	7	3	1	0	7	3	1	0			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:37027101G>A	ENST00000358047.3	+	1	670	c.618G>A	c.(616-618)ccG>ccA	p.P206P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	206								p.P206P(2)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCAAGACTCCGGTGTCCAGTC	0.652													A	37027101	G	A	37027101	2	1	409	1	0	0	0	0	0	0	0	1	5622	1103	39	1		1	FAM47C	23	37027101	Silent	SNP	G	TCGA-DU-8165-01A-11D-2253-08	17071454	37027101	118243459	73	41308											
DGAT2L6	347516	broad.mit.edu	37	chrX	69421805	69421805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaggctcaggcaatgccGtggttattgtggtgggtgga	9	10	17	5	1	1	1	1	0	0	1	1	2	1	2	1	6	1	3	1	6	3	2			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:69421805G>A	ENST00000333026.3	+	5	638	c.538G>A	c.(538-540)Gtg>Atg	p.V180M		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	180					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						AGGCAATGCCGTGGTTATTGT	0.512													A	69421805	G	A	69421805	3	1	409	1	0	0	0	0	1	0	0	0	4498	1145	40	1	556	1	DGAT2L6	23	69421805	Missense_Mutation	SNP	G	TCGA-DU-8165-01A-11D-2253-08	32394704	69421805	85848755	74	41309											
SYTL4	94121	broad.mit.edu	37	chrX	99931048	99931048	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaacccagcttctgcttggCcattgaggaacggagctgca	10	9	11	11	1	1	1	0	1	1	0	1	3	1	3	2	3	6	4	2	3	3	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:99931048C>A	ENST00000455616.1	-	18	2339	c.1993G>T	c.(1993-1995)Gcc>Tcc	p.A665S	SYTL4_ENST00000276141.6_Missense_Mutation_p.A665S|SYTL4_ENST00000454200.2_Missense_Mutation_p.A667S|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000263033.5_Missense_Mutation_p.A665S|SYTL4_ENST00000372989.1_Missense_Mutation_p.A665S			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	665					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCTGCTTGGCCATTGAGGAA	0.552													A	99931048	C	A	99931048	3	1	409	1	0	0	0	0	1	0	0	0	15582	739	26	4	26	4	SYTL4	23	99931048	Missense_Mutation	SNP	C	TCGA-DU-8165-01A-11D-2253-08	30509243	99931048	55339512	75	41310											
HS6ST2	90161	broad.mit.edu	37	chrX	131762858	131762858	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaggcatgacagagaggTtgtagcagcctaccagggtc	10	9	13	9	0	1	2	1	1	0	1	2	3	1	2	2	3	3	4	2	3	2	4			TCGA-DU-8165-01A-11D-2253-08	TCGA-DU-8165-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3470090e-ffbe-4874-ae9f-9b8b85494ed9	ac772409-6c5c-4b63-af6b-c77a4af6c6eb	g.chrX:131762858T>A	ENST00000370836.2	-	4	1626	c.1211A>T	c.(1210-1212)aAc>aTc	p.N404I	HS6ST2_ENST00000406696.3_Missense_Mutation_p.N130I|HS6ST2_ENST00000521489.1_Missense_Mutation_p.N444I|HS6ST2_ENST00000370833.2_Missense_Mutation_p.N298I	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	404						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GACAGAGAGGTTGTAGCAGCC	0.522													A	131762858	T	A	131762858	3	1	409	1	0	0	0	0	1	0	0	0	7426	1725	60	5	610	5	HS6ST2	23	131762858	Missense_Mutation	SNP	T	TCGA-DU-8165-01A-11D-2253-08	31831810	131762858	23507702	76	41311											
BCL2L15	440603	broad.mit.edu	37	chr1	114424577	114424577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatcctgagcacaccaggTcttgctgagagattccacag	11	8	11	11	0	1	3	0	2	1	1	3	5	3	4	3	2	2	2	3	2	1	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:114424577T>C	ENST00000393316.3	-	3	463	c.292A>G	c.(292-294)Acc>Gcc	p.T98A	BCL2L15_ENST00000471267.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|BCL2L15_ENST00000393320.3_Intron|BCL2L15_ENST00000488450.1_5'UTR	NM_001010922.2	NP_001010922.1	Q5TBC7	B2L15_HUMAN	BCL2-like 15	98					apoptosis					breast(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)	9	Lung SC(450;0.184)	all_cancers(81;3.95e-08)|all_epithelial(167;9.95e-08)|all_lung(203;1.31e-05)|Lung NSC(69;2.46e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GCACACCAGGTCTTGCTGAGA	0.468													C	114424577	T	C	114424577	3	2	410	1	0	0	0	0	1	0	0	0	1378	1667	58	3	207	3	BCL2L15	1	114424577	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		114424577	134826044	1	41312											
RNPEP	6051	broad.mit.edu	37	chr1	201972432	201972432	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctccctgatctctcccctggGgactcactcatgaagcctgc	6	10	8	17	0	3	2	2	2	1	0	6	3	5	3	4	2	2	0	4	2	1	0			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:201972432G>T	ENST00000295640.4	+	9	1537	c.1494G>T	c.(1492-1494)ggG>ggT	p.G498G	RNPEP_ENST00000471105.1_3'UTR|RP11-465N4.4_ENST00000419190.1_RNA|RNPEP_ENST00000367286.3_Silent_p.G459G	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	498					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCTCCCCTGGGGACTCACTCA	0.562													T	201972432	G	T	201972432	2	4	410	1	0	0	0	0	0	0	0	1	13600	1219	43	4		4	RNPEP	1	201972432	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	87547855	201972432	47278189	2	41313											
USH2A	7399	broad.mit.edu	37	chr1	215987173	215987173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactccagtagaattcagaAcaaacgggatatacttttct	16	11	6	8	1	2	2	1	0	1	2	3	3	3	3	1	1	4	1	1	1	7	6			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:215987173A>G	ENST00000366943.2	-	49	10030	c.9644T>C	c.(9643-9645)gTt>gCt	p.V3215A	USH2A_ENST00000307340.3_Missense_Mutation_p.V3215A			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3215					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)		AGAATTCAGAACAAACGGGAT	0.433										HNSCC(13;0.011)			G	215987173	A	G	215987173	3	3	410	1	0	0	0	0	1	0	0	0	17138	43	2	3	6060	3	USH2A	1	215987173	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	14014741	215987173	33263448	3	41314											
GNPAT	8443	broad.mit.edu	37	chr1	231403559	231403559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgttctgcttcagaacCggccatccatggactttgat	7	14	9	11	1	2	2	1	1	1	1	3	3	3	3	3	2	3	3	3	2	1	4			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr1:231403559C>T	ENST00000366647.4	+	9	1358	c.1189C>T	c.(1189-1191)Cgg>Tgg	p.R397W	GNPAT_ENST00000366646.3_Missense_Mutation_p.R336W	NM_014236.3	NP_055051.1	O15228	GNPAT_HUMAN	glyceronephosphate O-acyltransferase	397					ether lipid biosynthetic process|fatty acid metabolic process|organ morphogenesis	peroxisomal matrix|peroxisomal membrane	glycerone-phosphate O-acyltransferase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	23	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				GCTTCAGAACCGGCCATCCAT	0.458													T	231403559	C	T	231403559	3	4	410	1	0	0	0	0	1	0	0	0	6597	643	23	1	1223	1	GNPAT	1	231403559	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	15416386	231403559	17847062	4	41315											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	410	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		209113112	34086261	5	41316											
CHPF	79586	broad.mit.edu	37	chr2	220406861	220406861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctgagaggtcagcaccGccaccagcagcctctgcctg	7	7	12	15	1	3	1	1	1	2	1	3	2	3	1	5	2	4	2	5	2	0	0			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:220406861G>A	ENST00000243776.6	-	2	613	c.365C>T	c.(364-366)gCg>gTg	p.A122V	CHPF_ENST00000373891.2_Missense_Mutation_p.A122V|CHPF_ENST00000535926.1_5'UTR	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	122						Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		GGTCAGCACCGCCACCAGCAG	0.677											OREG0015229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	220406861	G	A	220406861	3	1	410	1	0	0	0	0	1	0	0	0	3398	1087	38	1	1974	1	CHPF	2	220406861	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	11293749	220406861	22792512	6	41317											
SPP2	6694	broad.mit.edu	37	chr2	234978646	234978646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcaagaataaatactGactttgagtaacggccttga	16	9	9	7	1	0	5	0	3	0	2	0	5	0	5	1	1	3	2	1	1	6	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:234978646G>T	ENST00000168148.3	+	7	713	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	SPP2_ENST00000373368.1_Missense_Mutation_p.D209Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	209					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		AATAAATACTGACTTTGAGTA	0.443													T	234978646	G	T	234978646	3	4	410	1	0	0	0	0	1	0	0	0	15183	1290	45	4	651	4	SPP2	2	234978646	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	14571785	234978646	8220727	7	41318											
KIF1A	547	broad.mit.edu	37	chr2	241683359	241683359	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgacccagggcgctaacCtgagcacgtccttgcagagg	8	5	12	16	3	0	2	0	1	0	1	1	3	1	2	5	2	3	3	5	2	1	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr2:241683359C>T	ENST00000498729.2	-	33	3830	c.3584G>A	c.(3583-3585)aGc>aAc	p.S1195N	KIF1A_ENST00000320389.7_Splice_Site_p.S1094N	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1094					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		GGGCGCTAACCTGAGCACGTC	0.592													T	241683359	C	T	241683359	5	4	410	1	0	0	0	0	0	0	1	0	8341	695	24	2	1859	2	KIF1A	2	241683359	Splice_Site	SNP	C	TCGA-DU-8166-01A-11D-2253-08	6704713	241683359	1516014	8	41319											
CD200	4345	broad.mit.edu	37	chr3	112054859	112054859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagaccaccatcaatgatTaccaggtaattttctacccc	14	10	5	12	0	2	2	1	1	1	1	2	3	2	2	5	1	2	1	5	1	5	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:112054859T>C	ENST00000473539.1	+	2	139	c.82T>C	c.(82-84)Tac>Cac	p.Y28H	CD200_ENST00000383681.3_Intron|CD200_ENST00000315711.8_Intron	NM_001004196.2	NP_001004196.2	P41217	OX2G_HUMAN	CD200 molecule	0					regulation of immune response	integral to plasma membrane				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16		Acute lymphoblastic leukemia(4;1.7e-08)|all_hematologic(4;8.82e-05)				CATCAATGATTACCAGGTAAT	0.393													C	112054859	T	C	112054859	3	2	410	1	0	0	0	0	1	0	0	0	3010	1754	61	3	88	3	CD200	3	112054859	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		112054859	85967571	9	41320											
IGSF10	285313	broad.mit.edu	37	chr3	151164200	151164201	+	Frame_Shift_Ins	INS	-	-	T																															tgtaatggctataatagtcaINSttggtggcttggtgatagca																										TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr3:151164200_151164201insT	ENST00000282466.3	-	4	3567_3568	c.3568_3569insA	c.(3568-3570)atgfs	p.M1190fs		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	1190					cell differentiation|multicellular organismal development|ossification	extracellular region		p.M1190K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATAATAGTCATTGGTGGCTTG	0.396													T	151164201	-	T	151164200	7	5	410	1	0	1	1	0	0	0	0	0	7655	217	8	0	4362	0	IGSF10	3	151164200	Frame_Shift_Ins	INS	-	TCGA-DU-8166-01A-11D-2253-08	39109341	151164200	46858230	10	41321											
RANBP9	10048	broad.mit.edu	37	chr6	13711709	13711709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctgttgctgctgctgcGgcggcggcggcggcggctgc	0	8	20	13	6	0	0	0	0	0	0	0	0	0	0	0	6	6	7	0	6	0	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:13711709G>T	ENST00000011619.3	-	1	87	c.29C>A	c.(28-30)cCg>cAg	p.P10Q		NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	10	Poly-Pro.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			ctgctgctgcggcggcggcgg	0.761													T	13711709	G	T	13711709	3	4	410	1	0	0	0	0	1	0	0	0	13120	1116	39	4	2216	4	RANBP9	6	13711709	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		13711709	157403358	11	41322											
HIST1H3E	8353	broad.mit.edu	37	chr6	26225733	26225733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgctattcatgccaaacgCgtgaccatcatgcctaaaga	12	9	8	12	3	2	2	2	1	0	1	2	2	2	2	3	0	4	1	3	0	4	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:26225733C>T	ENST00000360408.1	+	1	351	c.351C>T	c.(349-351)cgC>cgT	p.R117R		NM_003532.2	NP_003523.1	P68431	H31_HUMAN	histone cluster 1, H3e	117					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			endometrium(1)|large_intestine(1)|lung(5)|skin(1)	8		all_hematologic(11;0.0223)|Acute lymphoblastic leukemia(11;0.0351)				ATGCCAAACGCGTGACCATCA	0.557											OREG0017240	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26225733	C	T	26225733	2	4	410	1	0	0	0	0	0	0	0	1	7214	755	27	1		1	HIST1H3E	6	26225733	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08	12514024	26225733	144889334	12	41323											
TRIM15	89870	broad.mit.edu	37	chr6	30138295	30138295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgtgagatgaagacttTtgtgagtcctgaggccattt	9	13	13	6	0	0	5	0	4	0	2	1	6	1	5	2	2	0	0	2	2	1	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:30138295T>C	ENST00000376694.4	+	5	1218	c.749T>C	c.(748-750)tTt>tCt	p.F250S	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	250					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						ATGAAGACTTTTGTGAGTCCT	0.458													C	30138295	T	C	30138295	3	2	410	1	0	0	0	0	1	0	0	0	16591	1841	64	3	767	3	TRIM15	6	30138295	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08	3912562	30138295	140976772	13	41324											
CD109	135228	broad.mit.edu	37	chr6	74472143	74472143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgaaaggagacgtaacGcttacatttttacctttatc	12	13	7	9	2	0	2	0	1	0	1	1	3	0	2	2	1	3	2	2	1	5	7			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:74472143G>A	ENST00000437994.2	+	8	1226	c.795G>A	c.(793-795)acG>acA	p.T265T	CD109_ENST00000287097.5_Silent_p.T265T|CD109_ENST00000422508.2_Silent_p.T188T	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	265						anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GAGACGTAACGCTTACATTTT	0.294													A	74472143	G	A	74472143	2	1	410	1	0	0	0	0	0	0	0	1	2993	1074	38	1		1	CD109	6	74472143	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	44333848	74472143	96642924	14	41325											
ARHGAP18	93663	broad.mit.edu	37	chr6	129959563	129959563	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgattctctctgttgAgcaaatatgtctctgacgtc	7	18	7	9	1	4	3	0	3	4	0	7	3	4	3	0	0	1	2	0	0	2	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr6:129959563A>T	ENST00000368149.2	-	3	616	c.528T>A	c.(526-528)gcT>gcA	p.A176A		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	176					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		CTCTCTGTTGAGCAAATATGT	0.388													T	129959563	A	T	129959563	2	4	410	1	0	0	0	0	0	0	0	1	871	291	11	5		5	ARHGAP18	6	129959563	Silent	SNP	A	TCGA-DU-8166-01A-11D-2253-08	55487420	129959563	41155504	15	41326											
HEATR2	54919	broad.mit.edu	37	chr7	780561	780561	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgctcagtagcctcaacGacgaggtgcctgaggtcagg	8	8	14	11	2	3	1	3	1	0	0	3	3	3	1	2	3	5	3	2	3	2	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:780561G>A	ENST00000297440.6	+	3	906	c.886G>A	c.(886-888)Gac>Aac	p.D296N	HEATR2_ENST00000438961.1_3'UTR|HEATR2_ENST00000313147.5_Missense_Mutation_p.D296N	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	296							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		TAGCCTCAACGACGAGGTGCC	0.622													A	780561	G	A	780561	3	1	410	1	0	0	0	0	1	0	0	0	7083	1058	37	1	896	1	HEATR2	7	780561	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		780561	158358102	16	41327											
DNAH11	8701	broad.mit.edu	37	chr7	21826380	21826380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcagctaaagtcttcatgGgaaaggtatcagcccagcct	13	8	10	10	0	3	0	2	0	1	0	3	1	3	1	2	2	4	3	2	2	5	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:21826380G>A	ENST00000328843.6	+	60	9788	c.9757G>A	c.(9757-9759)Gga>Aga	p.G3253R	DNAH11_ENST00000409508.3_Missense_Mutation_p.G3246R			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3253	Stalk (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGTCTTCATGGGAAAGGTATC	0.453									Kartagener syndrome				A	21826380	G	A	21826380	3	1	410	1	0	0	0	0	1	0	0	0	4638	1233	43	2	9992	2	DNAH11	7	21826380	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	21045819	21826380	137312283	17	41328											
WBSCR17	64409	broad.mit.edu	37	chr7	70886066	70886066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaaaagactggtgggacGccggagacccttctctcccc	8	6	10	17	2	1	2	0	0	1	2	3	4	2	3	6	3	0	0	6	3	2	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:70886066G>A	ENST00000333538.5	+	5	1571	c.937G>A	c.(937-939)Gcc>Acc	p.A313T	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	313						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.A313S(1)		NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CTGGTGGGACGCCGGAGACCC	0.597													A	70886066	G	A	70886066	3	1	410	1	0	0	0	0	1	0	0	0	17366	1087	38	1	955	1	WBSCR17	7	70886066	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	49059686	70886066	88252597	18	41329											
MUC17	140453	broad.mit.edu	37	chr7	100683779	100683779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctactgaagccagttcctctCctacaactgctgaaggtacc	10	10	7	14	0	1	2	0	2	1	0	3	2	2	2	4	1	6	3	4	1	6	4			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:100683779C>T	ENST00000306151.4	+	3	9146	c.9082C>T	c.(9082-9084)Cct>Tct	p.P3028S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3028	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)					CAGTTCCTCTCCTACAACTGC	0.527													T	100683779	C	T	100683779	3	4	410	1	0	0	0	0	1	0	0	0	10050	855	30	2	9092	2	MUC17	7	100683779	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	29797713	100683779	58454884	19	41330											
PAX4	5078	broad.mit.edu	37	chr7	127251252	127251252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagggaattcggctgtggggGcaagtggcctgtggggacaa	8	7	19	7	1	0	0	0	0	0	0	1	2	0	2	1	7	0	2	1	7	3	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr7:127251252G>A	ENST00000341640.2	-	9	1103	c.898C>T	c.(898-900)Ccc>Tcc	p.P300S	PAX4_ENST00000463946.1_Missense_Mutation_p.P298S|PAX4_ENST00000338516.3_3'UTR|PAX4_ENST00000378740.2_Intron	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	311	Transcription repression.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTGTGGGGGCAAGTGGCCT	0.572													A	127251252	G	A	127251252	3	1	410	1	0	0	0	0	1	0	0	0	11557	1203	42	2	137	2	PAX4	7	127251252	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	26567473	127251252	31887411	20	41331											
SLC39A14	23516	broad.mit.edu	37	chr8	22273631	22273631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctactggctgaaaggtgtcCgctactctgatatcggcact	8	11	11	11	2	1	2	0	2	1	0	3	2	2	2	1	3	2	4	1	3	4	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr8:22273631C>T	ENST00000381237.1	+	7	1104	c.985C>T	c.(985-987)Cgc>Tgc	p.R329C	SLC39A14_ENST00000289952.5_Missense_Mutation_p.R329C|SLC39A14_ENST00000240095.6_Missense_Mutation_p.R329C|SLC39A14_ENST00000359741.5_Missense_Mutation_p.R329C	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	329						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		GAAAGGTGTCCGCTACTCTGA	0.582													T	22273631	C	T	22273631	3	4	410	1	0	0	0	0	1	0	0	0	14711	652	23	1	1181	1	SLC39A14	8	22273631	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		22273631	124090391	21	41332											
SEMA4D	10507	broad.mit.edu	37	chr9	91994102	91994102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcaggatgtgccggtgggCgcaggcttgggaggaagggt	6	7	21	7	3	0	0	0	0	0	0	1	3	0	3	1	7	1	3	1	7	1	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr9:91994102C>T	ENST00000450295.1	-	16	2882	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A	SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000438547.2_Silent_p.A702A|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000422704.2_Silent_p.A702A|SEMA4D_ENST00000356444.2_Silent_p.A702A			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	702					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						TGCCGGTGGGCGCAGGCTTGG	0.617													T	91994102	C	T	91994102	2	4	410	1	0	0	0	0	0	0	0	1	14127	755	27	1		1	SEMA4D	9	91994102	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08		91994102	49219329	22	41333											
SLC39A12	221074	broad.mit.edu	37	chr10	18276464	18276464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggctccatgctggggAcagcgctggtccttttccat	5	11	12	13	1	0	0	0	0	0	0	3	1	3	1	3	4	2	3	3	4	0	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr10:18276464A>G	ENST00000377369.2	+	7	1426	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	SLC39A12_ENST00000539911.1_Missense_Mutation_p.T251A|SLC39A12_ENST00000377374.4_Missense_Mutation_p.T385A|SLC39A12_ENST00000377371.3_Missense_Mutation_p.T385A	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	385					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CATGCTGGGGACAGCGCTGGT	0.557													G	18276464	A	G	18276464	3	3	410	1	0	0	0	0	1	0	0	0	14709	275	10	3	1175	3	SLC39A12	10	18276464	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08		18276464	117258283	23	41334											
OR56A1	120796	broad.mit.edu	37	chr11	6048480	6048480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaccacaatgaagacaCtagctttggccacaaattga	14	8	7	12	1	0	3	0	2	0	1	1	3	1	3	3	1	1	2	3	1	4	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:6048480C>A	ENST00000316650.5	-	1	491	c.455G>T	c.(454-456)aGt>aTt	p.S152I		NM_001001917.2	NP_001001917.2	Q8NGH5	O56A1_HUMAN	olfactory receptor, family 56, subfamily A, member 1	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(22)|ovary(2)	33		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AATGAAGACACTAGCTTTGGC	0.493													A	6048480	C	A	6048480	3	1	410	1	0	0	0	0	1	0	0	0	11209	565	20	4	505	4	OR56A1	11	6048480	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		6048480	128958036	24	41335											
PAAF1	80227	broad.mit.edu	37	chr11	73610227	73610227	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttccagcagaggaggtcttGgtgtgtcttctagtactgac	7	14	12	8	0	3	2	0	1	3	1	4	3	4	3	1	3	2	2	1	3	2	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:73610227G>T	ENST00000544909.1	+	3	579	c.322G>T	c.(322-324)Ggt>Tgt	p.G108C	PAAF1_ENST00000535604.1_5'UTR|PAAF1_ENST00000544552.1_Missense_Mutation_p.G90C|PAAF1_ENST00000543079.1_3'UTR|PAAF1_ENST00000310571.3_Missense_Mutation_p.G107C|PAAF1_ENST00000541951.1_5'UTR|PAAF1_ENST00000536003.1_Missense_Mutation_p.G90C|PAAF1_ENST00000376384.5_Missense_Mutation_p.G90C			Q9BRP4	PAAF1_HUMAN	proteasomal ATPase-associated factor 1	107					interspecies interaction between organisms	proteasome complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Breast(11;7.42e-05)					AGGAGGTCTTGGTGTGTCTTC	0.388													T	73610227	G	T	73610227	3	4	410	1	0	0	0	0	1	0	0	0	11438	1348	47	4	337	4	PAAF1	11	73610227	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	67561747	73610227	61396289	25	41336											
ARHGAP32	9743	broad.mit.edu	37	chr11	128840324	128840324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagagactgcactctcCggatggtagggtacggtgga	9	8	16	8	2	1	1	0	0	1	1	2	5	1	4	1	6	2	3	1	6	2	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr11:128840324C>T	ENST00000310343.9	-	22	4741	c.4742G>A	c.(4741-4743)cGg>cAg	p.R1581Q	ARHGAP32_ENST00000524655.1_3'UTR|ARHGAP32_ENST00000392657.3_Missense_Mutation_p.R1232Q|ARHGAP32_ENST00000527272.1_Missense_Mutation_p.R1232Q	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1581	Interaction with GAB2.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding	p.R1581L(1)|p.R1232L(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CTGCACTCTCCGGATGGTAGG	0.552													T	128840324	C	T	128840324	3	4	410	1	0	0	0	0	1	0	0	0	884	652	23	1	1525	1	ARHGAP32	11	128840324	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	55230097	128840324	6166192	26	41337											
LUM	4060	broad.mit.edu	37	chr12	91502163	91502163	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggagaccagaaggcagTctggctatctgattgaagct	12	8	13	8	0	2	4	0	2	2	2	2	5	2	4	1	3	1	3	1	3	3	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:91502163T>A	ENST00000266718.4	-	2	1048	c.594A>T	c.(592-594)agA>agT	p.R198S	LUM_ENST00000548071.1_Intron	NM_002345.3	NP_002336.1	P51884	LUM_HUMAN	lumican	198					collagen fibril organization|visual perception	extracellular space|fibrillar collagen	collagen binding|extracellular matrix structural constituent			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24						CAGAAGGCAGTCTGGCTATCT	0.423													A	91502163	T	A	91502163	3	1	410	1	0	0	0	0	1	0	0	0	9155	1664	58	5	430	5	LUM	12	91502163	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08		91502163	42349732	27	41338											
ASCL4	121549	broad.mit.edu	37	chr12	108169421	108169421	+	Frame_Shift_Del	DEL	C	C	-																															gagggcgcggccggcgccgtCccccagcgcagggcggaatg																										TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr12:108169421delC	ENST00000342331.4	+	1	1260	c.429delC	c.(427-429)gtcfs	p.V143fs		NM_203436.2	NP_982260.2	Q6XD76	ASCL4_HUMAN	achaete-scute family bHLH transcription factor 4	142					regulation of transcription from RNA polymerase II promoter|skin development|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	13						CCGGCGCCGTCCCCCAGCGCA	0.721													-	108169421	C	-	108169421	7	5	410	1	0	1	0	1	0	0	0	0	1041	842	30	0	431	0	ASCL4	12	108169421	Frame_Shift_Del	DEL	C	TCGA-DU-8166-01A-11D-2253-08	16667258	108169421	25682474	28	41339											
GPR180	160897	broad.mit.edu	37	chr13	95275437	95275437	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcacaccacaacttagcaggGatcctcctaattgttctaag	12	11	6	12	0	2	0	1	0	1	0	4	1	4	1	3	1	2	2	3	1	4	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr13:95275437G>C	ENST00000376958.4	+	7	994	c.969G>C	c.(967-969)ggG>ggC	p.G323G		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	323						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					ACTTAGCAGGGATCCTCCTAA	0.388													C	95275437	G	C	95275437	2	2	410	1	0	0	0	0	0	0	0	1	6730	1161	41	4		4	GPR180	13	95275437	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08		95275437	19894441	29	41340											
OR11H12	440153	broad.mit.edu	37	chr14	19378063	19378063	+	Frame_Shift_Del	DEL	C	C	-																															catgactgggcatctctgtgCcaaactggtcatactgtgct																										TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:19378063delC	ENST00000550708.1	+	1	542	c.470delC	c.(469-471)gccfs	p.A157fs		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A157D(1)		NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CATCTCTGTGCCAAACTGGTC	0.468													-	19378063	C	-	19378063	7	5	410	1	0	1	0	1	0	0	0	0	11003	739	26	0	472	0	OR11H12	14	19378063	Frame_Shift_Del	DEL	C	TCGA-DU-8166-01A-11D-2253-08		19378063	87971477	30	41341											
RPGRIP1	57096	broad.mit.edu	37	chr14	21770676	21770676	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acaggctgagctacacagccCctccatcgtttaaggagcat	11	8	9	13	1	0	1	0	1	0	0	2	2	1	2	3	2	4	4	3	2	2	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:21770676C>G	ENST00000206660.6	+	4	520	c.520C>G	c.(520-522)Cct>Gct	p.P174A	RPGRIP1_ENST00000556336.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.P174A|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.P174A			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	174					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		CTACACAGCCCCTCCATCGTT	0.468													G	21770676	C	G	21770676	3	3	410	1	0	0	0	0	1	0	0	0	13640	623	22	4	534	4	RPGRIP1	14	21770676	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	2392613	21770676	85578864	31	41342											
PTPN21	11099	broad.mit.edu	37	chr14	88946264	88946264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagtgtgcggccgctggcGaggggagctgtgcgtgctcg	3	7	21	10	5	0	0	0	0	0	0	1	2	0	1	1	5	4	4	1	5	0	0			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr14:88946264G>A	ENST00000556564.1	-	13	1795	c.1511C>T	c.(1510-1512)tCg>tTg	p.S504L	PTPN21_ENST00000328736.3_Missense_Mutation_p.S504L	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	504						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GGCCGCTGGCGAGGGGAGCTG	0.701													A	88946264	G	A	88946264	3	1	410	1	0	0	0	0	1	0	0	0	12874	1059	37	1	2041	1	PTPN21	14	88946264	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	67175588	88946264	18403276	32	41343											
VPS18	57617	broad.mit.edu	37	chr15	41193044	41193044	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgcccgtggccggccGgactcactactggcctatct	5	10	11	15	3	2	0	1	0	1	0	2	1	2	1	4	4	2	1	4	4	3	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:41193044G>A	ENST00000220509.5	+	4	2367	c.2028G>A	c.(2026-2028)ccG>ccA	p.P676P	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	676					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GTGGCCGGCCGGACTCACTAC	0.647													A	41193044	G	A	41193044	2	1	410	1	0	0	0	0	0	0	0	1	17296	1103	39	1		1	VPS18	15	41193044	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08		41193044	61338348	33	41344											
IGF1R	3480	broad.mit.edu	37	chr15	99456347	99456347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaacatggtggacgtggAcctcccgcccaacaaggacg	10	5	13	13	3	0	0	0	0	0	0	1	4	1	4	3	5	2	0	3	5	3	0	rs45481994		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr15:99456347A>G	ENST00000268035.6	+	8	2275	c.1664A>G	c.(1663-1665)gAc>gGc	p.D555G	IGF1R_ENST00000558762.1_Missense_Mutation_p.D555G	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	555	Fibronectin type-III 1.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GTGGACGTGGACCTCCCGCCC	0.537													G	99456347	A	G	99456347	3	3	410	1	0	0	0	0	1	0	0	0	7629	275	10	3	1694	3	IGF1R	15	99456347	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	58263303	99456347	3075045	34	41345											
SLC9A5	6553	broad.mit.edu	37	chr16	67304913	67304913	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggtccctctccacCtaccttctgatccacgctct	6	10	5	20	1	3	1	0	1	3	0	6	1	5	1	7	1	2	1	7	1	1	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr16:67304913C>T	ENST00000299798.11	+	16	2556	c.2491C>T	c.(2491-2493)Cta>Tta	p.L831L		NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	831					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		CCCTCTCCACCTACCTTCTGA	0.657													T	67304913	C	T	67304913	2	4	410	1	0	0	0	0	0	0	0	1	14811	680	24	2		2	SLC9A5	16	67304913	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08		67304913	23049840	35	41346											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	410	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		7577121	73618089	36	41347											
NCOR1	9611	broad.mit.edu	37	chr17	15943763	15943763	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcaatcttacctgacgtaGtaactgctggcagattaaag	12	13	8	8	1	2	2	1	1	1	1	2	2	2	2	1	1	3	4	1	1	6	5			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:15943763G>C	ENST00000268712.3	-	43	6982	c.6725C>G	c.(6724-6726)aCt>aGt	p.T2242S	AC002553.1_ENST00000442828.1_Intron|NCOR1_ENST00000395857.3_Missense_Mutation_p.T826S|NCOR1_ENST00000395851.1_Missense_Mutation_p.T2139S	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	2242	ID2 (By similarity).|Interaction with C1D (By similarity).				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		ACCTGACGTAGTAACTGCTGG	0.358													C	15943763	G	C	15943763	3	2	410	1	0	0	0	0	1	0	0	0	10311	1029	36	4	613	4	NCOR1	17	15943763	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	8366642	15943763	65251447	37	41348											
MYO15A	51168	broad.mit.edu	37	chr17	18064731	18064731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcgcttcctccaagacGtgagccggaccccaggcctg	7	7	10	17	3	1	2	1	1	0	1	4	3	3	3	6	2	1	1	6	2	1	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr17:18064731G>A	ENST00000205890.5	+	57	9825	c.9487G>A	c.(9487-9489)Gtg>Atg	p.V3163M	MYO15A_ENST00000451725.2_Missense_Mutation_p.V55M|MYO15A_ENST00000418233.3_Missense_Mutation_p.V427M	NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	3163	MyTH4 2.|Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CCTCCAAGACGTGAGCCGGAC	0.632													A	18064731	G	A	18064731	3	1	410	1	0	0	0	0	1	0	0	0	10139	1145	40	1	9705	1	MYO15A	17	18064731	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	2120968	18064731	63130479	38	41349											
PIAS4	51588	broad.mit.edu	37	chr19	4012979	4012979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgggtttcgtgggccGgagtaagagtggactgaagc	7	9	17	8	2	0	2	0	1	0	1	2	4	1	4	2	4	1	3	2	4	2	2			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:4012979G>A	ENST00000262971.2	+	2	201	c.86G>A	c.(85-87)cGg>cAg	p.R29Q		NM_015897.2	NP_056981.2	Q8N2W9	PIAS4_HUMAN	protein inhibitor of activated STAT, 4	29	SAP.				positive regulation of protein sumoylation|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|PML body	DNA binding|SUMO ligase activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(1)|lung(3)|pancreas(1)|skin(3)	17				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCGTGGGCCGGAGTAAGAGT	0.552													A	4012979	G	A	4012979	3	1	410	1	0	0	0	0	1	0	0	0	11955	1116	39	1	92	1	PIAS4	19	4012979	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		4012979	55116004	39	41350											
SIN3B	23309	broad.mit.edu	37	chr19	16973238	16973238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcgcgccacccatgagCgacagatccggggacgggat	8	6	13	14	5	0	2	0	1	0	1	3	5	2	4	4	3	1	0	4	3	0	1	rs150062565	byFrequency	TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:16973238C>T	ENST00000379803.1	+	9	1148	c.1134C>T	c.(1132-1134)agC>agT	p.S378S	SIN3B_ENST00000248054.5_Silent_p.S378S	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	378	Interaction with NCOR1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CACCCATGAGCGACAGATCCG	0.517													T	16973238	C	T	16973238	2	4	410	1	0	0	0	0	0	0	0	1	14420	767	27	1		1	SIN3B	19	16973238	Silent	SNP	C	TCGA-DU-8166-01A-11D-2253-08	12960259	16973238	42155745	40	41351											
ZNF567	163081	broad.mit.edu	37	chr19	37210750	37210750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtgggaagtccttccGccagaagacaacactctctc	10	9	9	13	1	1	3	0	1	1	2	5	4	3	4	3	1	1	0	3	1	3	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:37210750G>A	ENST00000585696.1	+	3	2261	c.1031G>A	c.(1030-1032)cGc>cAc	p.R344H	ZNF567_ENST00000392163.2_Missense_Mutation_p.R344H|ZNF567_ENST00000360729.4_Missense_Mutation_p.R344H|ZNF567_ENST00000588311.1_Missense_Mutation_p.R344H|ZNF850_ENST00000589390.1_Intron|ZNF567_ENST00000536254.2_Missense_Mutation_p.R375H			Q8N184	ZN567_HUMAN	zinc finger protein 567	375					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			AAGTCCTTCCGCCAGAAGACA	0.443													A	37210750	G	A	37210750	3	1	410	1	0	0	0	0	1	0	0	0	18099	1087	38	1	1041	1	ZNF567	19	37210750	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08	20237512	37210750	21918233	41	41352											
TPRX1	284355	broad.mit.edu	37	chr19	48305133	48305133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttttttgcccatagagtcatCcccttcttggtactgagagg	7	15	9	10	0	2	2	1	1	1	2	3	3	3	2	3	2	2	1	3	2	2	7			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr19:48305133C>T	ENST00000535759.1	-	4	1425	c.1426G>A	c.(1426-1428)Gat>Aat	p.D476N	TPRX1_ENST00000543508.1_Missense_Mutation_p.D369N|TPRX1_ENST00000322175.3_Missense_Mutation_p.D379N			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	379						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		ATAGAGTCATCCCCTTCTTGG	0.512													T	48305133	C	T	48305133	3	4	410	1	0	0	0	0	1	0	0	0	16523	855	30	2	104	2	TPRX1	19	48305133	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08	11094383	48305133	10823850	42	41353											
TTLL9	164395	broad.mit.edu	37	chr20	30486368	30486368	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgggtggaagtgaaggAgtaagaccctccccccagcc	11	5	14	11	0	0	2	0	1	0	1	1	5	1	5	5	4	1	1	5	4	3	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr20:30486368A>C	ENST00000375938.4	+	4	459	c.206A>C	c.(205-207)gAc>gCc	p.D69A	TTLL9_ENST00000535842.1_Splice_Site_p.D69A|TTLL9_ENST00000375921.2_Splice_Site_p.D19A|TTLL9_ENST00000310998.4_Splice_Site_p.D19A|TTLL9_ENST00000375922.4_Splice_Site_p.D19A|TTLL9_ENST00000375934.4_Splice_Site_p.D51A			Q3SXZ7	TTLL9_HUMAN	tubulin tyrosine ligase-like family, member 9	69	TTL.				protein modification process	cilium|microtubule|microtubule basal body	ATP binding|tubulin-tyrosine ligase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	26			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GAAGTGAAGGAGTAAGACCCT	0.562													C	30486368	A	C	30486368	5	2	410	1	0	0	0	0	0	0	1	0	16836	318	11	5	216	5	TTLL9	20	30486368	Splice_Site	SNP	A	TCGA-DU-8166-01A-11D-2253-08		30486368	32539152	43	41354											
GGT1	2678	broad.mit.edu	37	chr22	25016936	25016936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggagagactgaccctgcCgcagctggctgacacctacg	8	5	15	13	2	0	3	0	2	0	1	0	5	0	4	3	3	3	3	3	3	1	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:25016936C>T	ENST00000400382.1	+	9	1387	c.632C>T	c.(631-633)cCg>cTg	p.P211L	GGT1_ENST00000400383.1_Missense_Mutation_p.P211L|GGT1_ENST00000248923.4_Missense_Mutation_p.P211L|GGT1_ENST00000406383.2_Missense_Mutation_p.P211L|GGT1_ENST00000400380.1_Missense_Mutation_p.P211L|GGT1_ENST00000466310.1_Intron			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	211					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CTGACCCTGCCGCAGCTGGCT	0.647													T	25016936	C	T	25016936	3	4	410	1	0	0	0	0	1	0	0	0	6417	652	23	1	650	1	GGT1	22	25016936	Missense_Mutation	SNP	C	TCGA-DU-8166-01A-11D-2253-08		25016936	26287630	44	41355											
SEZ6L	23544	broad.mit.edu	37	chr22	26707829	26707829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggactatagtggagttcAcctgcgaccccggccactcc	7	9	11	14	2	1	0	1	0	0	0	2	3	2	2	5	3	1	1	5	3	2	4			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:26707829A>G	ENST00000529632.2	+	8	1973	c.1777A>G	c.(1777-1779)Acc>Gcc	p.T593A	SEZ6L_ENST00000402979.1_Missense_Mutation_p.T366A|SEZ6L_ENST00000404234.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000343706.4_Missense_Mutation_p.T593A|SEZ6L_ENST00000248933.6_Missense_Mutation_p.T593A|SEZ6L_ENST00000360929.3_Missense_Mutation_p.T593A|SEZ6L_ENST00000403121.1_Missense_Mutation_p.T366A	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like	593	Sushi 2.					endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						AGTGGAGTTCACCTGCGACCC	0.562													G	26707829	A	G	26707829	3	3	410	1	0	0	0	0	1	0	0	0	14236	159	6	3	1807	3	SEZ6L	22	26707829	Missense_Mutation	SNP	A	TCGA-DU-8166-01A-11D-2253-08	1690893	26707829	24596737	45	41356											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													G	50659212	A	G	50659212	2	3	410	1	0	0	0	0	0	0	0	1	16872	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-DU-8166-01A-11D-2253-08	23951383	50659212	645354	46	41357											
WWC3	55841	broad.mit.edu	37	chrX	10090693	10090693	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagacagtgccaagaggttGgagaggagggcacgccgcat	12	4	17	8	2	0	3	0	0	0	3	0	6	0	4	2	4	1	3	2	4	2	1			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:10090693G>T	ENST00000380861.4	+	12	2056	c.1665G>T	c.(1663-1665)ttG>ttT	p.L555F	WWC3_ENST00000454666.1_Missense_Mutation_p.L555F	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	555										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCAAGAGGTTGGAGAGGAGGG	0.552													T	10090693	G	T	10090693	3	4	410	1	0	0	0	0	1	0	0	0	17515	1339	47	4	1707	4	WWC3	23	10090693	Missense_Mutation	SNP	G	TCGA-DU-8166-01A-11D-2253-08		10090693	145179867	47	41358											
ZNF41	7592	broad.mit.edu	37	chrX	47315320	47315320	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtcatgctcactcacCtgaacagctctgatgtgggg	7	11	12	11	0	5	2	3	2	2	0	5	2	5	2	1	3	3	2	1	3	1	0			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:47315320C>A	ENST00000377065.4	-	4	934	c.295G>T	c.(295-297)Ggt>Tgt	p.G99C	ZNF41_ENST00000313116.7_Splice_Site_p.G99C|ZNF41_ENST00000465311.1_5'UTR|ZNF41_ENST00000397050.2_Splice_Site_p.G109C	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	141	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				GCTCACTCACCTGAACAGCTC	0.522													A	47315320	C	A	47315320	5	1	410	1	0	0	0	0	0	0	1	0	17990	695	24	4	2052	4	ZNF41	23	47315320	Splice_Site	SNP	C	TCGA-DU-8166-01A-11D-2253-08	37224627	47315320	107955240	48	41359											
ATRX	546	broad.mit.edu	37	chrX	76940087	76940087	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccttccgcacaccaccTgaaatgttttaaagattaaa	14	11	4	12	1	0	2	0	1	0	1	2	2	2	2	5	0	0	2	5	0	5	4			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:76940087T>C	ENST00000373344.5	-	9	877		c.e9-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	GCACACCACCTGAAATGTTTT	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76940087	T	C	76940087	5	2	410	1	0	0	0	0	0	0	1	0	1213	1594	55	3	6925	3	ATRX	23	76940087	Splice_Site	SNP	T	TCGA-DU-8166-01A-11D-2253-08	29624767	76940087	78330473	49	41360											
CXorf48	54967	broad.mit.edu	37	chrX	134303695	134303695	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccctgcacagttgtcaactgGgtgtcacctacaagataaag	12	9	9	11	0	2	1	2	0	0	1	2	1	2	1	2	1	3	2	2	1	5	3			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:134303695G>C	ENST00000344129.2	-	2	328	c.102C>G	c.(100-102)acC>acG	p.T34T	CXorf48_ENST00000276241.6_Silent_p.T34T	NM_017863.2	NP_060333.1	Q8WUE5	CX048_HUMAN	chromosome X open reading frame 48	34										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5	Acute lymphoblastic leukemia(192;0.000127)					TTGTCAACTGGGTGTCACCTA	0.433													C	134303695	G	C	134303695	2	2	410	1	0	0	0	0	0	0	0	1	4144	1219	43	4		4	CXorf48	23	134303695	Silent	SNP	G	TCGA-DU-8166-01A-11D-2253-08	57363608	134303695	20966865	50	41361											
MCF2	4168	broad.mit.edu	37	chrX	138689854	138689854	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataaataaaggatacttctTtaaaacatccaagctattgc	18	12	4	7	0	1	0	0	0	1	0	2	1	2	1	1	1	4	1	1	1	10	8			TCGA-DU-8166-01A-11D-2253-08	TCGA-DU-8166-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae60b340-7cc9-4ebd-85a7-dc2ec942782c	c00bb1d9-268d-49d4-bb00-5bc37b9d3f7a	g.chrX:138689854T>G	ENST00000520602.1	-	15	1951	c.1666A>C	c.(1666-1668)Aag>Cag	p.K556Q	MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000519895.1_Missense_Mutation_p.K572Q|MCF2_ENST00000414978.1_Missense_Mutation_p.K556Q|MCF2_ENST00000536274.1_Missense_Mutation_p.K457Q|MCF2_ENST00000370576.4_Missense_Mutation_p.K496Q|MCF2_ENST00000338585.6_Missense_Mutation_p.K512Q|MCF2_ENST00000370573.4_Missense_Mutation_p.K496Q|MCF2_ENST00000370578.4_Missense_Mutation_p.K641Q			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	496	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GGATACTTCTTTAAAACATCC	0.373													G	138689854	T	G	138689854	3	3	410	1	0	0	0	0	1	0	0	0	9453	1850	64	5	1375	5	MCF2	23	138689854	Missense_Mutation	SNP	T	TCGA-DU-8166-01A-11D-2253-08	4386159	138689854	16580706	51	41362											
HSPG2	3339	broad.mit.edu	37	chr1	22162039	22162039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccaccctcctaccttggaTaaccagctgggcactggcct	8	8	9	16	0	0	0	0	0	0	0	1	1	1	1	6	3	4	2	6	3	2	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:22162039T>C	ENST00000374695.3	-	76	10526	c.10447A>G	c.(10447-10449)Atc>Gtc	p.I3483V		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3483	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	CTACCTTGGATAACCAGCTGG	0.562													C	22162039	T	C	22162039	3	2	411	1	0	0	0	0	1	0	0	0	7488	1406	49	3	2816	3	HSPG2	1	22162039	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08		22162039	227088582	1	41363											
SEPN1	57190	broad.mit.edu	37	chr1	26135530	26135530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccccaggtcatcatccaccGgctcctgagcatgttccacc	7	8	7	19	1	2	1	2	1	0	0	5	1	5	1	7	2	1	3	7	2	0	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:26135530G>A	ENST00000361547.2	+	6	816	c.761G>A	c.(760-762)cGg>cAg	p.R254Q	SEPN1_ENST00000374315.1_Missense_Mutation_p.R220Q|SEPN1_ENST00000354177.4_Missense_Mutation_p.R220Q	NM_020451.2	NP_065184.2	Q9NZV5	SELN_HUMAN	selenoprotein N, 1	254						endoplasmic reticulum membrane|extracellular region	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.00038)|all_lung(284;0.00051)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0505)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0421)|OV - Ovarian serous cystadenocarcinoma(117;1.26e-25)|Colorectal(126;3.01e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0143)|READ - Rectum adenocarcinoma(331;0.0649)		ATCATCCACCGGCTCCTGAGC	0.667													A	26135530	G	A	26135530	3	1	411	1	0	0	0	0	1	0	0	0	14149	1116	39	1	783	1	SEPN1	1	26135530	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	3973491	26135530	223115091	2	41364											
PHACTR4	65979	broad.mit.edu	37	chr1	28793239	28793239	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagcagccccctatcccTccccctaaaccagctcacag	10	5	5	21	0	1	0	1	0	0	0	3	0	3	0	7	0	4	2	7	0	4	2	rs34628351		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:28793239T>C	ENST00000373839.3	+	6	1044	c.783T>C	c.(781-783)ccT>ccC	p.P261P	PHACTR4_ENST00000373836.3_Silent_p.P271P|PHACTR4_ENST00000493669.1_3'UTR	NM_001048183.1	NP_001041648.1	Q8IZ21	PHAR4_HUMAN	phosphatase and actin regulator 4	261	Pro-rich.						actin binding|protein phosphatase inhibitor activity			NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;7.01e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;1.35e-21)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0144)|READ - Rectum adenocarcinoma(331;0.0649)		CCCCTATCCCTCCCCCTAAAC	0.517													C	28793239	T	C	28793239	2	2	411	1	0	0	0	0	0	0	0	1	11889	1538	54	3		3	PHACTR4	1	28793239	Silent	SNP	T	TCGA-DU-8167-01A-11D-2253-08	2657709	28793239	220457382	3	41365											
PALMD	54873	broad.mit.edu	37	chr1	100133315	100133315	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccaggttctagaacaaagtAtcctcaggtatggccctcac	11	10	8	12	0	3	1	2	0	1	1	5	1	5	1	3	3	1	3	3	3	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:100133315A>G	ENST00000263174.4	+	3	619	c.244A>G	c.(244-246)Atc>Gtc	p.I82V	PALMD_ENST00000605497.1_Missense_Mutation_p.I82V	NM_017734.4	NP_060204.1	Q9NP74	PALMD_HUMAN	palmdelphin	82					regulation of cell shape	cytoplasm|membrane				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(6)|pancreas(1)|prostate(2)	31		all_epithelial(167;0.000813)|all_lung(203;0.0214)|Lung NSC(277;0.0216)		Epithelial(280;0.067)|all cancers(265;0.117)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)		AGAACAAAGTATCCTCAGGTA	0.433													G	100133315	A	G	100133315	3	3	411	1	0	0	0	0	1	0	0	0	11487	449	16	3	254	3	PALMD	1	100133315	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	71340076	100133315	149117306	4	41366											
SLC25A24	29957	broad.mit.edu	37	chr1	108735257	108735257	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatcgaggatgtctccCtcgcagctccgcggcctgag	6	8	12	15	4	1	1	0	1	1	0	6	3	3	2	4	2	1	2	4	2	0	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:108735257C>A	ENST00000370041.4	-	0	183				SLC25A24_ENST00000565488.1_Intron	NM_213651.2	NP_998816.1	Q6NUK1	SCMC1_HUMAN	solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24						transmembrane transport	integral to membrane|mitochondrial inner membrane	calcium ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_epithelial(167;3.72e-05)|all_lung(203;0.000567)|Lung NSC(277;0.0011)|Melanoma(281;0.211)		Colorectal(144;0.0345)|Lung(183;0.0971)|COAD - Colon adenocarcinoma(174;0.127)|Epithelial(280;0.134)		GGATGTCTCCCTCGCAGCTCC	0.582													A	108735257	C	A	108735257	1	1	411	1	0	0	0	0	0	0	0	0	14581	696	24	4		4	SLC25A24	1	108735257	Translation_Start_Site	SNP	C	TCGA-DU-8167-01A-11D-2253-08	8601942	108735257	140515364	5	41367											
ADAM30	11085	broad.mit.edu	37	chr1	120438457	120438457	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttaagccacaaacctgattcCcaaactgctctttcttcagg	11	12	5	13	0	3	1	1	1	2	0	4	1	4	1	3	1	4	1	3	1	3	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:120438457C>G	ENST00000369400.1	-	1	661	c.503G>C	c.(502-504)gGg>gCg	p.G168A		NM_021794.3	NP_068566.2	Q9UKF2	ADA30_HUMAN	ADAM metallopeptidase domain 30	168					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(11)|lung(16)|ovary(2)|skin(2)	38	all_cancers(5;7.07e-10)|all_epithelial(5;1.62e-10)|all_neural(166;0.153)|Breast(55;0.234)	all_lung(203;1.55e-06)|Lung NSC(69;1.04e-05)|all_epithelial(167;0.00138)		Lung(183;0.0204)|LUSC - Lung squamous cell carcinoma(189;0.117)		AACCTGATTCCCAAACTGCTC	0.438													G	120438457	C	G	120438457	3	3	411	1	0	0	0	0	1	0	0	0	248	623	22	4	1873	4	ADAM30	1	120438457	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	11703200	120438457	128812164	6	41368											
NPR1	4881	broad.mit.edu	37	chr1	153659546	153659546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttccggtactcactcAccaatgacatcgtcaaggta	11	10	9	11	2	3	1	3	1	0	0	5	2	4	2	2	3	1	3	2	3	4	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:153659546A>G	ENST00000368680.3	+	12	2390	c.1918A>G	c.(1918-1920)Acc>Gcc	p.T640A		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	640	Protein kinase.				body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GTACTCACTCACCAATGACAT	0.562													G	153659546	A	G	153659546	3	3	411	1	0	0	0	0	1	0	0	0	10670	159	6	3	1964	3	NPR1	1	153659546	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	33221089	153659546	95591075	7	41369											
KMO	8564	broad.mit.edu	37	chr1	241749983	241749983	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttcttgtttcagggCtttgaagactgcttggtatt	5	22	9	5	0	2	2	1	1	1	1	2	2	2	2	0	2	1	4	0	2	2	10			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:241749983C>G	ENST00000366559.4	+	11	1271	c.960C>G	c.(958-960)ggC>ggG	p.G320G	KMO_ENST00000366558.3_Silent_p.G320G|KMO_ENST00000366557.4_Silent_p.G320G	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	320					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			tgtttCAGGGCTTTGAAGACT	0.303													G	241749983	C	G	241749983	2	3	411	1	0	0	0	0	0	0	0	1	8482	784	28	4		4	KMO	1	241749983	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	88090437	241749983	7500638	8	41370											
OR2G3	81469	broad.mit.edu	37	chr1	247769424	247769424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctggaccattttatttgCgaagtaccagctcttctcaa	10	13	8	10	1	2	0	1	0	2	0	3	2	2	1	2	2	3	3	2	2	4	5	rs144392521		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr1:247769424C>T	ENST00000320002.2	+	1	569	c.537C>T	c.(535-537)tgC>tgT	p.C179C	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001914.1	NP_001001914.1	Q8NGZ4	OR2G3_HUMAN	olfactory receptor, family 2, subfamily G, member 3	179					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|liver(1)|lung(31)|skin(5)	50	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			ATTTTATTTGCGAAGTACCAG	0.453													T	247769424	C	T	247769424	2	4	411	1	0	0	0	0	0	0	0	1	11075	776	27	1		1	OR2G3	1	247769424	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	6019441	247769424	1481197	9	41371											
APOB	338	broad.mit.edu	37	chr2	21250764	21250764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcagcatgctttctttaGgaaggtagttatttggatca	9	18	9	5	0	3	0	2	0	1	0	3	2	3	2	0	3	2	4	0	3	4	8			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:21250764G>A	ENST00000233242.1	-	14	2130	c.2003C>T	c.(2002-2004)cCt>cTt	p.P668L	APOB_ENST00000399256.4_Missense_Mutation_p.P668L	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	668	Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTTTCTTTAGGAAGGTAGTT	0.418													A	21250764	G	A	21250764	3	1	411	1	0	0	0	0	1	0	0	0	788	1000	35	2	11752	2	APOB	2	21250764	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		21250764	221948609	10	41372											
C2orf71	388939	broad.mit.edu	37	chr2	29287763	29287763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcttgctggggctgcGcctctggctgggatttgtcc	1	13	13	14	1	2	0	0	0	2	0	4	1	4	1	4	4	2	3	4	4	0	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:29287763G>A	ENST00000331664.5	-	2	3838	c.3839C>T	c.(3838-3840)gCg>gTg	p.A1280V		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	1280					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						CTGGGGCTGCGCCTCTGGCTG	0.657													A	29287763	G	A	29287763	3	1	411	1	0	0	0	0	1	0	0	0	2212	1087	38	1	31	1	C2orf71	2	29287763	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8036999	29287763	213911610	11	41373											
PLA2R1	22925	broad.mit.edu	37	chr2	160832717	160832717	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggtattctgcatcctgAtaaaagagccagggtacatc	15	9	9	8	0	1	2	0	1	1	1	3	2	2	2	2	2	3	3	2	2	6	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:160832717A>G	ENST00000283243.7	-	17	2663	c.2457T>C	c.(2455-2457)taT>taC	p.Y819Y	PLA2R1_ENST00000392771.1_Silent_p.Y819Y	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	819	C-type lectin 5.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGCATCCTGATAAAAGAGCC	0.383													G	160832717	A	G	160832717	2	3	411	1	0	0	0	0	0	0	0	1	12087	340	12	3		3	PLA2R1	2	160832717	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	131544954	160832717	82366656	12	41374											
ITGA4	3676	broad.mit.edu	37	chr2	182339701	182339701	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctataggtagccctaatggaGaaccttgtggaaagacttgt	12	11	11	7	0	0	2	0	0	0	2	0	4	0	3	2	3	2	1	2	3	6	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:182339701G>C	ENST00000397033.2	+	3	764	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	ITGA4_ENST00000339307.4_Missense_Mutation_p.E112Q|ITGA4_ENST00000478440.1_3'UTR	NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	112					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CCCTAATGGAGAACCTTGTGG	0.403													C	182339701	G	C	182339701	3	2	411	1	0	0	0	0	1	0	0	0	7936	943	33	4	344	4	ITGA4	2	182339701	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	21506984	182339701	60859672	13	41375											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	411	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	26773411	209113112	34086261	14	41376											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69343128	69343128	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgcttcctttggagtaaCaataaaaccttcgaaaatga	15	11	7	8	1	0	1	0	1	0	0	2	4	1	2	2	1	3	2	2	1	6	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:69343128C>A	ENST00000305363.4	+	8	813	c.749C>A	c.(748-750)aCa>aAa	p.T250K		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	250	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity	p.T250I(2)		endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						TTTGGAGTAACAATAAAACCT	0.368													A	69343128	C	A	69343128	3	1	411	1	0	0	0	0	1	0	0	0	16342	478	17	4	779	4	TMPRSS11E	4	69343128	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		69343128	121811148	15	41377											
IGJ	3512	broad.mit.edu	37	chr4	71522083	71522083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggggttaaggctgttTccaccattttggtctcacca	7	14	9	11	0	2	0	1	0	2	0	4	0	3	0	3	4	0	3	3	4	1	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:71522083T>C	ENST00000254801.4	-	4	612	c.443A>G	c.(442-444)gAa>gGa	p.E148G	IGJ_ENST00000543780.1_Missense_Mutation_p.E164G|ENAM_ENST00000472903.1_Intron	NM_144646.3	NP_653247.1	P01591	IGJ_HUMAN	immunoglobulin J polypeptide, linker protein for immunoglobulin alpha and mu polypeptides	148					immune response	extracellular region	antigen binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7			Lung(101;0.235)			TAAGGCTGTTTCCACCATTTT	0.448													C	71522083	T	C	71522083	3	2	411	1	0	0	0	0	1	0	0	0	7650	1783	62	3	40	3	IGJ	4	71522083	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	2178955	71522083	119632193	16	41378											
MFSD8	256471	broad.mit.edu	37	chr4	128851943	128851943	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgttcttgagtccaggcaTacatatccattgttaatgga	10	15	8	8	0	1	1	0	1	1	0	3	2	3	2	2	2	1	3	2	2	3	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:128851943T>C	ENST00000296468.3	-	10	1020	c.893A>G	c.(892-894)tAt>tGt	p.Y298C	MFSD8_ENST00000515130.1_5'UTR|MFSD8_ENST00000541133.1_3'UTR|MFSD8_ENST00000513559.1_Missense_Mutation_p.Y253C	NM_152778.2	NP_689991.1	Q8NHS3	MFSD8_HUMAN	major facilitator superfamily domain containing 8	298					cell death|transmembrane transport	integral to membrane|lysosomal membrane				cervix(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)	23						AGTCCAGGCATACATATCCAT	0.318													C	128851943	T	C	128851943	3	2	411	1	0	0	0	0	1	0	0	0	9613	1406	49	3	679	3	MFSD8	4	128851943	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	57329860	128851943	62302333	17	41379											
NEK1	4750	broad.mit.edu	37	chr4	170428878	170428878	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctataccttcagtgattcGatttttttgcgcctcatgtc	6	18	7	10	2	3	1	2	1	1	0	5	2	3	1	2	0	2	0	2	0	2	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr4:170428878G>A	ENST00000439128.2	-	20	2455	c.1815C>T	c.(1813-1815)atC>atT	p.I605I	NEK1_ENST00000510533.1_Silent_p.I561I|NEK1_ENST00000507142.1_Silent_p.I633I|NEK1_ENST00000512193.1_Silent_p.I536I|NEK1_ENST00000511633.1_Silent_p.I589I	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	605					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCAGTGATTCGATTTTTTTGC	0.338													A	170428878	G	A	170428878	2	1	411	1	0	0	0	0	0	0	0	1	10397	1048	37	1		1	NEK1	4	170428878	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	41576935	170428878	20725398	18	41380											
ADAMTS16	170690	broad.mit.edu	37	chr5	5239326	5239326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacgtctgtggggtgtgtaaCgggaataactcagcctgcac	9	9	14	9	2	2	0	1	0	1	0	2	2	2	1	1	3	4	2	1	3	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:5239326C>T	ENST00000274181.7	+	15	2355	c.2217C>T	c.(2215-2217)aaC>aaT	p.N739N		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	739	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.N739N(4)		breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GGGTGTGTAACGGGAATAACT	0.512													T	5239326	C	T	5239326	2	4	411	1	0	0	0	0	0	0	0	1	261	535	19	1		1	ADAMTS16	5	5239326	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		5239326	175675934	19	41381											
NUP155	9631	broad.mit.edu	37	chr5	37351324	37351324	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatataaacagccatcctTtccagccaagaaaattctgc	14	11	4	12	0	2	1	1	0	1	1	4	1	4	1	4	0	4	0	4	0	6	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:37351324T>C	ENST00000231498.3	-	6	894	c.691A>G	c.(691-693)Aag>Gag	p.K231E	NUP155_ENST00000513532.1_Missense_Mutation_p.K231E|NUP155_ENST00000381843.2_Missense_Mutation_p.K172E	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	231					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CAGCCATCCTTTCCAGCCAAG	0.353													C	37351324	T	C	37351324	3	2	411	1	0	0	0	0	1	0	0	0	10832	1850	64	3	3604	3	NUP155	5	37351324	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	32111998	37351324	143563936	20	41382											
RASGRF2	5924	broad.mit.edu	37	chr5	80366346	80366346	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaccaaagaacgaatgcgAccttaccaaagcaaccaaga	21	3	6	11	2	0	2	0	0	0	2	0	4	0	2	4	0	6	1	4	0	9	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:80366346A>G	ENST00000265080.4	+	4	646	c.579A>G	c.(577-579)cgA>cgG	p.R193R	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	193					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		AACGAATGCGACCTTACCAAA	0.423													G	80366346	A	G	80366346	2	3	411	1	0	0	0	0	0	0	0	1	13161	262	10	3		3	RASGRF2	5	80366346	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	43015022	80366346	100548914	21	41383											
FBXL17	64839	broad.mit.edu	37	chr5	107197443	107197443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggaggaggcggcagacatgTtgggggtccagcccatctga	9	6	17	9	1	1	2	0	1	1	1	2	4	2	4	2	6	1	2	2	6	0	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:107197443T>C	ENST00000542267.1	-	9	2490	c.2084A>G	c.(2083-2085)aAc>aGc	p.N695S	FBXL17_ENST00000359660.5_Missense_Mutation_p.N297S	NM_001163315.2	NP_001156787.2	Q9UF56	FXL17_HUMAN	F-box and leucine-rich repeat protein 17	695										endometrium(1)|large_intestine(4)|lung(1)	6		all_cancers(142;0.00273)|all_epithelial(76;0.000362)|Prostate(80;0.0115)|Myeloproliferative disorder(839;0.0393)|Ovarian(225;0.232)		OV - Ovarian serous cystadenocarcinoma(64;9.63e-11)|Epithelial(69;4.02e-10)		GGCAGACATGTTGGGGGTCCA	0.582													C	107197443	T	C	107197443	3	2	411	1	0	0	0	0	1	0	0	0	5762	1725	60	3	25	3	FBXL17	5	107197443	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	26831097	107197443	73717817	22	41384											
IL12B	3593	broad.mit.edu	37	chr5	158753714	158753714	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggttaccatctttcttcAgttcccatatggccacgagg	7	13	9	12	1	3	0	1	0	2	0	4	1	4	0	3	3	1	3	3	3	2	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr5:158753714A>G	ENST00000231228.2	-	2	532	c.77T>C	c.(76-78)cTg>cCg	p.L26P		NM_002187.2	NP_002178.2	P29460	IL12B_HUMAN	interleukin 12B (natural killer cell stimulatory factor 2, cytotoxic lymphocyte maturation factor 2, p40)	26	Ig-like C2-type.				cell cycle arrest|cell migration|defense response to Gram-negative bacterium|interferon-gamma biosynthetic process|natural killer cell activation|negative regulation of interleukin-10 production|negative regulation of interleukin-17 production|negative regulation of smooth muscle cell proliferation|positive regulation of activated T cell proliferation|positive regulation of activation of JAK2 kinase activity|positive regulation of cell adhesion|positive regulation of defense response to virus by host|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-17 production|positive regulation of memory T cell differentiation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|positive regulation of natural killer cell proliferation|positive regulation of NF-kappaB import into nucleus|positive regulation of NK T cell activation|positive regulation of NK T cell proliferation|positive regulation of osteoclast differentiation|positive regulation of smooth muscle cell apoptosis|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat4 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|regulation of tyrosine phosphorylation of Stat1 protein|response to UV-B|sexual reproduction|T-helper 1 type immune response|T-helper cell differentiation	interleukin-12 complex|interleukin-23 complex|membrane	cytokine activity|cytokine receptor activity|interleukin-12 receptor binding|protein heterodimerization activity			cervix(1)|endometrium(1)|large_intestine(5)|lung(4)	11	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCTTTCTTCAGTTCCCATAT	0.502													G	158753714	A	G	158753714	3	3	411	1	0	0	0	0	1	0	0	0	7683	188	7	3	933	3	IL12B	5	158753714	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	51556271	158753714	22161546	23	41385											
SCGN	10590	broad.mit.edu	37	chr6	25670302	25670302	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaatacactggcaccAtggtaagtaatgagtaatgt	15	10	11	5	0	0	2	0	1	0	1	0	3	0	3	1	3	1	4	1	3	6	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:25670302A>G	ENST00000377961.2	+	6	637	c.469A>G	c.(469-471)Atg>Gtg	p.M157V	SCGN_ENST00000334979.6_3'UTR	NM_006998.3	NP_008929.2	O76038	SEGN_HUMAN	secretagogin, EF-hand calcium binding protein	157	EF-hand 4.					extracellular region|transport vesicle membrane	calcium ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CACTGGCACCATGGTAAGTAA	0.483													G	25670302	A	G	25670302	3	3	411	1	0	0	0	0	1	0	0	0	13996	217	8	3	491	3	SCGN	6	25670302	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08		25670302	145444765	24	41386											
SLC17A4	10050	broad.mit.edu	37	chr6	25779395	25779395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcaggactgggctaaagaGcagacattcacccacctctg	11	7	11	12	0	2	2	1	0	1	2	2	3	2	3	2	2	2	3	2	2	2	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:25779395G>A	ENST00000377905.4	+	12	1592	c.1473G>A	c.(1471-1473)gaG>gaA	p.E491E	SLC17A4_ENST00000397076.2_3'UTR|SLC17A4_ENST00000439485.2_Silent_p.E261E	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	491					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGCTAAAGAGCAGACATTCA	0.478													A	25779395	G	A	25779395	2	1	411	1	0	0	0	0	0	0	0	1	14513	962	34	2		2	SLC17A4	6	25779395	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	109093	25779395	145335672	25	41387											
OR5V1	81696	broad.mit.edu	37	chr6	29323830	29323830	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtggatcagtcacagtcGtcaagataattaatatattt	13	14	9	5	1	3	1	3	0	0	1	4	2	3	2	0	2	0	0	0	2	5	5	rs150457685		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:29323830G>A	ENST00000377154.1	-	4	442	c.143C>T	c.(142-144)aCg>aTg	p.T48M	OR5V1_ENST00000543825.1_Missense_Mutation_p.T48M			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	48					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						AGTCACAGTCGTCAAGATAAT	0.388													A	29323830	G	A	29323830	3	1	411	1	0	0	0	0	1	0	0	0	11260	1145	40	1	825	1	OR5V1	6	29323830	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	3544435	29323830	141791237	26	41388											
GNL1	2794	broad.mit.edu	37	chr6	30514076	30514076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctccgtggtctctggatGggactcccaggtgcctgggg	4	9	16	12	1	1	0	0	0	1	0	4	2	3	2	3	6	2	1	3	6	0	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:30514076G>A	ENST00000376621.3	-	12	2567	c.1597C>T	c.(1597-1599)Cat>Tat	p.H533Y		NM_005275.3	NP_005266.2	P36915	GNL1_HUMAN	guanine nucleotide binding protein-like 1	533					response to DNA damage stimulus|signal transduction|T cell mediated immunity	extracellular space|intracellular	GTP binding|structural molecule activity			cervix(2)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GTCTCTGGATGGGACTCCCAG	0.547													A	30514076	G	A	30514076	3	1	411	1	0	0	0	0	1	0	0	0	6591	1348	47	2	230	2	GNL1	6	30514076	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	1190246	30514076	140600991	27	41389											
LY6G5C	80741	broad.mit.edu	37	chr6	31644773	31644773	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgttttgagggtcattgcaGaaatccaggaagcagtattg	11	12	12	6	0	1	2	1	1	0	1	2	3	2	3	1	2	2	4	1	2	3	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:31644773G>A	ENST00000375858.3	-	3	413	c.405C>T	c.(403-405)ttC>ttT	p.F135F	LY6G5C_ENST00000383237.4_Silent_p.F138F|LY6G5C_ENST00000375860.2_Silent_p.F136F|LY6G5C_ENST00000474395.1_5'UTR	NM_025262.3	NP_079538.3	Q5SRR4	LY65C_HUMAN	lymphocyte antigen 6 complex, locus G5C	138	UPAR/Ly6.					extracellular region				endometrium(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	7						GGTCATTGCAGAAATCCAGGA	0.463													A	31644773	G	A	31644773	2	1	411	1	0	0	0	0	0	0	0	1	9164	933	33	2		2	LY6G5C	6	31644773	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	1130697	31644773	139470294	28	41390											
RGL2	5863	broad.mit.edu	37	chr6	33260297	33260297	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggacacgactgatgacacTtggagccttgtcctggcttg	9	10	12	10	1	0	2	0	2	0	0	1	5	1	4	2	3	1	1	2	3	1	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:33260297T>C	ENST00000497454.1	-	17	2527	c.2032A>G	c.(2032-2034)Agt>Ggt	p.S678G	RGL2_ENST00000437840.2_5'UTR|PFDN6_ENST00000463584.1_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	678	Ras-associating.				Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						CTGATGACACTTGGAGCCTTG	0.522													C	33260297	T	C	33260297	3	2	411	1	0	0	0	0	1	0	0	0	13365	1609	56	3	309	3	RGL2	6	33260297	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	1615524	33260297	137854770	29	41391											
GPR116	221395	broad.mit.edu	37	chr6	46847698	46847698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagacacattggaggacAaaacttccttttcacacacc	14	8	6	13	0	1	1	1	0	0	1	2	3	2	3	3	2	1	0	3	2	3	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:46847698A>G	ENST00000283296.7	-	9	1181	c.893T>C	c.(892-894)tTg>tCg	p.L298S	GPR116_ENST00000456426.2_Intron|GPR116_ENST00000362015.4_Missense_Mutation_p.L298S|GPR116_ENST00000265417.7_Missense_Mutation_p.L298S	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	298	Ig-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			ATTGGAGGACAAAACTTCCTT	0.423													G	46847698	A	G	46847698	3	3	411	1	0	0	0	0	1	0	0	0	6687	131	5	3	3199	3	GPR116	6	46847698	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	13587401	46847698	124267369	30	41392											
HIVEP2	3097	broad.mit.edu	37	chr6	143089533	143089533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttaccctccttcaaatatTttaattcggattggctcagt	9	16	5	11	1	2	0	2	0	0	0	4	1	3	1	3	2	1	1	3	2	4	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:143089533T>C	ENST00000367603.2	-	6	6070	c.5328A>G	c.(5326-5328)aaA>aaG	p.K1776K	HIVEP2_ENST00000012134.2_Silent_p.K1776K|HIVEP2_ENST00000367604.1_Silent_p.K1776K	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1776					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CTTCAAATATTTTAATTCGGA	0.363													C	143089533	T	C	143089533	2	2	411	1	0	0	0	0	0	0	0	1	7242	1838	64	3		3	HIVEP2	6	143089533	Silent	SNP	T	TCGA-DU-8167-01A-11D-2253-08	96241835	143089533	28025534	31	41393											
TULP4	56995	broad.mit.edu	37	chr6	158914678	158914678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcccggtccccacggttgCccctgcgcaagccctctgtg	3	9	10	19	3	2	0	0	0	2	0	4	0	3	0	6	2	3	2	6	2	1	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr6:158914678C>T	ENST00000367097.3	+	10	3062	c.1705C>T	c.(1705-1707)Ccc>Tcc	p.P569S	TULP4_ENST00000367094.2_Missense_Mutation_p.P569S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	569					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CCCACGGTTGCCCCTGCGCAA	0.642													T	158914678	C	T	158914678	3	4	411	1	0	0	0	0	1	0	0	0	16878	739	26	2	1743	2	TULP4	6	158914678	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	15825145	158914678	12200389	32	41394											
ANKMY2	57037	broad.mit.edu	37	chr7	16650366	16650366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcttctgtcagcagaggaTtctcatttacaagcatcacg	10	13	7	11	1	5	1	3	0	3	1	6	2	5	2	0	1	3	2	0	1	2	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr7:16650366T>C	ENST00000306999.2	-	6	797	c.554A>G	c.(553-555)aAt>aGt	p.N185S		NM_020319.2	NP_064715.1	Q8IV38	ANKY2_HUMAN	ankyrin repeat and MYND domain containing 2	185						cilium	zinc ion binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|urinary_tract(1)	23	Lung NSC(10;0.103)|all_lung(11;0.204)			UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		CAGCAGAGGATTCTCATTTAC	0.378													C	16650366	T	C	16650366	3	2	411	1	0	0	0	0	1	0	0	0	635	1493	52	3	791	3	ANKMY2	7	16650366	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08		16650366	142488297	33	41395											
MYOM2	9172	broad.mit.edu	37	chr8	2048769	2048769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccctgtttctggatatttCgtggacttcagggaggagga	8	12	14	7	1	2	0	1	0	1	0	3	5	2	5	1	5	1	1	1	5	1	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:2048769C>T	ENST00000262113.4	+	20	2685	c.2544C>T	c.(2542-2544)ttC>ttT	p.F848F	MYOM2_ENST00000523438.1_Silent_p.F273F	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	848	Fibronectin type-III 5.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CTGGATATTTCGTGGACTTCA	0.542													T	2048769	C	T	2048769	2	4	411	1	0	0	0	0	0	0	0	1	10168	883	31	1		1	MYOM2	8	2048769	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		2048769	144315253	34	41396											
SNAI2	6591	broad.mit.edu	37	chr8	49833789	49833789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtttggctttttggaggcGttgaaatgcttcttgaccag	7	16	12	6	1	1	2	0	2	1	0	1	3	1	3	1	3	1	4	1	3	2	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:49833789G>A	ENST00000396822.1	-	2	393	c.36C>T	c.(34-36)aaC>aaT	p.N12N	SNAI2_ENST00000020945.1_Silent_p.N12N			O43623	SNAI2_HUMAN	snail family zinc finger 2	12					canonical Wnt receptor signaling pathway|ectoderm and mesoderm interaction|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)	18		all_cancers(86;0.0368)|all_epithelial(80;0.000624)|Lung NSC(129;0.0019)|all_lung(136;0.00502)				TTTTGGAGGCGTTGAAATGCT	0.532													A	49833789	G	A	49833789	2	1	411	1	0	0	0	0	0	0	0	1	14921	1136	40	1		1	SNAI2	8	49833789	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	47785020	49833789	96530233	35	41397											
NPBWR1	2831	broad.mit.edu	37	chr8	53852887	53852887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctacctggtggtgttggcCactgcggagtcgcgccgggt	3	9	17	12	5	0	0	0	0	0	0	1	1	0	1	3	5	2	2	3	5	1	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:53852887C>T	ENST00000331251.3	+	1	1897	c.420C>T	c.(418-420)gcC>gcT	p.A140A		NM_005285.3	NP_005276.2	P48145	NPBW1_HUMAN	neuropeptides B/W receptor 1	140					synaptic transmission	plasma membrane	opioid receptor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)	17		Lung NSC(129;0.0222)|all_epithelial(80;0.0301)|all_lung(136;0.0431)				TGGTGTTGGCCACTGCGGAGT	0.662													T	53852887	C	T	53852887	2	4	411	1	0	0	0	0	0	0	0	1	10644	581	21	2		2	NPBWR1	8	53852887	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	4019098	53852887	92511135	36	41398											
ZHX1	11244	broad.mit.edu	37	chr8	124266694	124266694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcaggcctgttattttcAtaagtctgataatttctgaa	10	17	7	7	1	4	2	2	2	2	0	5	2	4	2	1	1	0	1	1	1	4	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr8:124266694A>G	ENST00000395571.3	-	3	2110	c.1493T>C	c.(1492-1494)aTg>aCg	p.M498T	ZHX1_ENST00000297857.2_Missense_Mutation_p.M498T|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000522655.1_Missense_Mutation_p.M498T	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	498	Required for interaction with NFYA.				negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			TGTTATTTTCATAAGTCTGAT	0.358													G	124266694	A	G	124266694	3	3	411	1	0	0	0	0	1	0	0	0	17776	217	8	3	1132	3	ZHX1	8	124266694	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	70413807	124266694	22097328	37	41399											
SH3GL2	6456	broad.mit.edu	37	chr9	17747099	17747099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaggagctgaaggaacCaagctagatgatgacttcaa	14	8	13	6	0	1	4	1	3	0	1	1	7	1	7	1	3	3	3	1	3	5	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:17747099C>T	ENST00000380607.4	+	2	201	c.81C>T	c.(79-81)acC>acT	p.T27T	SH3GL2_ENST00000537391.1_5'UTR	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	27	BAR.|Binds and tubulates liposomes (By similarity).				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		CTGAAGGAACCAAGCTAGATG	0.363													T	17747099	C	T	17747099	2	4	411	1	0	0	0	0	0	0	0	1	14345	581	21	2		2	SH3GL2	9	17747099	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		17747099	123466332	38	41400											
ACO1	48	broad.mit.edu	37	chr9	32436370	32436370	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaagcaggcaccacagaCtatccatctgccttctgggg	11	7	10	13	0	2	1	0	0	2	1	3	2	3	1	3	3	3	2	3	3	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:32436370C>T	ENST00000309951.6	+	18	2360	c.2222C>T	c.(2221-2223)aCt>aTt	p.T741I	ACO1_ENST00000379923.1_Missense_Mutation_p.T741I|ACO1_ENST00000541043.1_Missense_Mutation_p.T642I	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		GCACCACAGACTATCCATCTG	0.483													T	32436370	C	T	32436370	3	4	411	1	0	0	0	0	1	0	0	0	146	565	20	2	2288	2	ACO1	9	32436370	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	14689271	32436370	108777061	39	41401											
TMEM2	23670	broad.mit.edu	37	chr9	74359988	74359988	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgttcctggatcatctggAtggttccttgtaagagactt	8	14	10	9	1	2	1	1	0	1	1	4	4	4	3	3	3	0	3	3	3	1	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:74359988A>G	ENST00000377044.4	-	4	1519	c.980T>C	c.(979-981)aTc>aCc	p.I327T	TMEM2_ENST00000377066.5_Missense_Mutation_p.I327T	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	327						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		GATCATCTGGATGGTTCCTTG	0.522													G	74359988	A	G	74359988	3	3	411	1	0	0	0	0	1	0	0	0	16221	333	12	3	3255	3	TMEM2	9	74359988	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	41923618	74359988	66853443	40	41402											
TRPM6	140803	broad.mit.edu	37	chr9	77435241	77435241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccctgtgaaccatacaCtccattagaatttggaaaag	15	10	6	10	0	0	2	0	1	0	1	2	3	2	3	3	1	2	0	3	1	7	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:77435241C>T	ENST00000451710.3	-	9	1350	c.1113G>A	c.(1111-1113)gaG>gaA	p.E371E	TRPM6_ENST00000376871.3_Silent_p.E371E|TRPM6_ENST00000376864.4_Silent_p.E371E|TRPM6_ENST00000360774.1_Silent_p.E371E|TRPM6_ENST00000376872.3_Silent_p.E371E|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000361255.3_Silent_p.E366E|TRPM6_ENST00000449912.2_Silent_p.E366E			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	371					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GAACCATACACTCCATTAGAA	0.363													T	77435241	C	T	77435241	2	4	411	1	0	0	0	0	0	0	0	1	16691	564	20	2		2	TRPM6	9	77435241	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	3075253	77435241	63778190	41	41403											
CEP78	84131	broad.mit.edu	37	chr9	80881577	80881577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaagaagaggagttgTccagaaatagcagatcttct	18	8	10	5	0	2	5	0	0	2	5	3	6	3	6	1	1	1	2	1	1	6	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:80881577T>C	ENST00000424347.2	+	15	2306	c.2017T>C	c.(2017-2019)Tcc>Ccc	p.S673P	CEP78_ENST00000376597.4_Missense_Mutation_p.S690P|CEP78_ENST00000415759.2_Missense_Mutation_p.S674P|CEP78_ENST00000376598.2_Missense_Mutation_p.S689P|CEP78_ENST00000277082.5_Missense_Mutation_p.S673P			Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	673					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AGAGGAGTTGTCCAGAAATAG	0.433													C	80881577	T	C	80881577	3	2	411	1	0	0	0	0	1	0	0	0	3292	1667	58	3	2130	3	CEP78	9	80881577	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	3446336	80881577	60331854	42	41404											
AMBP	259	broad.mit.edu	37	chr9	116840418	116840418	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggatgttgtcgggcggCgttggcacagggccagcgct	5	9	17	10	4	0	0	0	0	0	0	1	1	0	1	1	5	1	4	1	5	0	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:116840418C>T	ENST00000265132.3	-	1	334	c.72G>A	c.(70-72)acG>acA	p.T24T		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	24					cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	TGTCGGGCGGCGTTGGCACAG	0.617													T	116840418	C	T	116840418	2	4	411	1	0	0	0	0	0	0	0	1	564	755	27	1		1	AMBP	9	116840418	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	35958841	116840418	24373013	43	41405											
RXRA	6256	broad.mit.edu	37	chr9	137300950	137300950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accagaagtgcctggccatgGgcatgaagcgggaaggtagg	11	5	17	8	1	0	2	0	1	0	1	0	3	0	3	3	5	2	2	3	5	4	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr9:137300950G>A	ENST00000540193.1	+	3	1227	c.304G>A	c.(304-306)Ggc>Agc	p.G102S	RXRA_ENST00000481739.1_Missense_Mutation_p.G199S|RXRA_ENST00000356384.4_3'UTR			P19793	RXRA_HUMAN	retinoid X receptor, alpha	199	Modulating (By similarity).				cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	CCTGGCCATGGGCATGAAGCG	0.657													A	137300950	G	A	137300950	3	1	411	1	0	0	0	0	1	0	0	0	13854	1232	43	2	609	2	RXRA	9	137300950	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	20460532	137300950	3912481	44	41406											
PTER	9317	broad.mit.edu	37	chr10	16528411	16528411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggaaccagtatcaagtgtGgcattattggagaaattggt	13	12	12	4	0	1	1	1	0	0	1	1	3	1	2	1	4	1	2	1	4	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:16528411G>A	ENST00000378000.1	+	4	739	c.493G>A	c.(493-495)Ggc>Agc	p.G165S	PTER_ENST00000423462.2_Missense_Mutation_p.G165S|PTER_ENST00000535784.2_Missense_Mutation_p.G165S|PTER_ENST00000485788.1_3'UTR|PTER_ENST00000298942.3_Missense_Mutation_p.G165S	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	165					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						TATCAAGTGTGGCATTATTGG	0.448													A	16528411	G	A	16528411	3	1	411	1	0	0	0	0	1	0	0	0	12824	1348	47	2	499	2	PTER	10	16528411	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		16528411	119006336	45	41407											
SVIL	6840	broad.mit.edu	37	chr10	29811448	29811448	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggattcttgcagagcttctCctgtggctgttccgaagaat	7	14	11	9	1	2	2	0	0	2	2	4	4	3	3	2	2	2	4	2	2	2	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:29811448C>G	ENST00000375398.2	-	18	3729	c.3280G>C	c.(3280-3282)Gag>Cag	p.E1094Q	SVIL_ENST00000535393.1_5'UTR|SVIL_ENST00000355867.4_Missense_Mutation_p.E1094Q|SVIL_ENST00000375400.3_Missense_Mutation_p.E668Q			O95425	SVIL_HUMAN	supervillin	1094					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CAGAGCTTCTCCTGTGGCTGT	0.557													G	29811448	C	G	29811448	3	3	411	1	0	0	0	0	1	0	0	0	15517	864	30	4	3456	4	SVIL	10	29811448	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	13283037	29811448	105723299	46	41408											
DUPD1	338599	broad.mit.edu	37	chr10	76803652	76803652	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgtcggcctccacgccgtgGtactggatgtccatgtcgcg	4	10	13	14	6	0	0	0	0	0	0	5	1	2	1	4	3	1	1	4	3	1	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr10:76803652G>A	ENST00000338487.5	-	2	323	c.324C>T	c.(322-324)taC>taT	p.Y108Y		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	108	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCACGCCGTGGTACTGGATGT	0.647													A	76803652	G	A	76803652	2	1	411	1	0	0	0	0	0	0	0	1	4843	1256	44	2		2	DUPD1	10	76803652	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	46992204	76803652	58731095	47	41409											
FOLH1B	219595	broad.mit.edu	37	chr11	89395333	89395333	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaatacgcttataggcAtggaattgcagaggctgttg	11	12	12	6	1	1	2	1	0	0	2	1	3	1	3	0	3	2	5	0	3	5	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr11:89395333A>G	ENST00000532352.1	+	0	731							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GCTTATAGGCATGGAATTGCA	0.348													G	89395333	A	G	89395333	1	3	411	0	1	0	0	0	0	0	0	0	6029	232	8	3		3	FOLH1B	11	89395333	RNA	SNP	A	TCGA-DU-8167-01A-11D-2253-08		89395333	45611183	48	41410											
TTC12	54970	broad.mit.edu	37	chr11	113233185	113233185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattgttgaggaggccttGcgagcaggagtggtaaagaa	14	8	15	4	1	0	2	0	1	0	1	0	5	0	4	1	4	2	3	1	4	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr11:113233185G>A	ENST00000393020.1	+	19	2082	c.1677G>A	c.(1675-1677)ttG>ttA	p.L559L	TTC12_ENST00000314756.3_Silent_p.L559L|TTC12_ENST00000483239.2_Silent_p.L565L|TTC12_ENST00000529221.1_Silent_p.L559L			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	559							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		AGGAGGCCTTGCGAGCAGGAG	0.423													A	113233185	G	A	113233185	2	1	411	1	0	0	0	0	0	0	0	1	16781	1310	46	2		2	TTC12	11	113233185	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	23837852	113233185	21773331	49	41411											
ACACB	32	broad.mit.edu	37	chr12	109644646	109644646	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttttgtctgccagagccCgtttttagcataaaggtaaa	10	13	10	8	1	1	1	0	0	1	1	1	1	1	1	2	2	3	4	2	2	5	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:109644646C>T	ENST00000338432.7	+	20	3164	c.3045C>T	c.(3043-3045)ccC>ccT	p.P1015P	ACACB_ENST00000377854.5_Silent_p.P1015P|ACACB_ENST00000377848.3_Silent_p.P1015P			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1015					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGCCAGAGCCCGTTTTTAGCA	0.527													T	109644646	C	T	109644646	2	4	411	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109644646	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		109644646	24207249	50	41412											
SBNO1	55206	broad.mit.edu	37	chr12	123834923	123834923	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccatcaatatcaaagagGtcattcggactaattccact	14	10	5	12	1	3	1	3	0	0	1	5	2	4	2	3	2	0	0	3	2	4	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:123834923G>A	ENST00000420886.2	-	1	65	c.66C>T	c.(64-66)gaC>gaT	p.D22D	SBNO1_ENST00000267176.4_Silent_p.D22D|SBNO1_ENST00000602750.1_Silent_p.D22D|SBNO1_ENST00000602398.1_Silent_p.D22D	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	22							ATP binding|DNA binding|hydrolase activity			NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		TATCAAAGAGGTCATTCGGAC	0.418													A	123834923	G	A	123834923	2	1	411	1	0	0	0	0	0	0	0	1	13954	1252	44	2		2	SBNO1	12	123834923	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	14190277	123834923	10016972	51	41413											
P2RX2	22953	broad.mit.edu	37	chr12	133196268	133196268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctctttctgagcccaggggGgcagcgtgttcagcatcatc	6	10	12	13	1	4	1	2	1	2	0	5	1	4	1	2	3	3	3	2	3	0	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr12:133196268G>A	ENST00000389110.3	+	3	350	c.313G>A	c.(313-315)Ggc>Agc	p.G105S	P2RX2_ENST00000351222.4_Intron|P2RX2_ENST00000352418.4_Intron|P2RX2_ENST00000348800.5_Missense_Mutation_p.G105S|P2RX2_ENST00000343948.4_Missense_Mutation_p.G105S|P2RX2_ENST00000449132.2_Intron|P2RX2_ENST00000350048.5_Intron	NM_170682.2|NM_170683.2|NM_174873.1	NP_733782.1|NP_733783.1|NP_777362.1	Q9UBL9	P2RX2_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 2	105					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling|protein homooligomerization	integral to membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity			NS(1)|breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(8)|ovary(1)|prostate(3)	20	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0767)		OV - Ovarian serous cystadenocarcinoma(86;2.32e-08)|Epithelial(86;8.62e-08)|all cancers(50;4.5e-06)		AGCCCAGGGGGGCAGCGTGTT	0.756													A	133196268	G	A	133196268	3	1	411	1	0	0	0	0	1	0	0	0	11416	1232	43	2	323	2	P2RX2	12	133196268	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	9361345	133196268	655627	52	41414											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017399	33017399	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttctgatgctgccacCgaagtgaagatcatttgaat	10	12	10	9	1	2	4	1	3	1	1	2	5	2	4	3	1	2	2	3	1	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:33017399C>T	ENST00000357505.6	-	7	1334	c.1230G>A	c.(1228-1230)tcG>tcA	p.S410S	N4BP2L2_ENST00000399396.3_Silent_p.S425S|N4BP2L2_ENST00000380121.3_5'UTR|N4BP2L2_ENST00000504114.1_Silent_p.S410S|N4BP2L2_ENST00000446957.2_Intron	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	0										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		ATGCTGCCACCGAAGTGAAGA	0.408													T	33017399	C	T	33017399	2	4	411	1	0	0	0	0	0	0	0	1	10188	639	23	1		1	N4BP2L2	13	33017399	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		33017399	82152479	53	41415											
TPP2	7174	broad.mit.edu	37	chr13	103287941	103287941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtttcttaattttaggtctGaaagctaataacattgacta	13	17	6	5	0	2	2	0	2	2	0	2	2	2	2	0	1	2	2	0	1	6	8			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287941G>A	ENST00000376052.3	+	12	1414	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L	TPP2_ENST00000376065.4_Silent_p.L466L			P29144	TPP2_HUMAN	tripeptidyl peptidase II	466					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTTAGGTCTGAAAGCTAATA	0.408													A	103287941	G	A	103287941	2	1	411	1	0	0	0	0	0	0	0	1	16513	1277	45	2		2	TPP2	13	103287941	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	70270542	103287941	11881937	54	41416											
TPP2	7174	broad.mit.edu	37	chr13	103287990	103287990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attcagtcagaagagctctaGaaaacactgcagtgaaggct	15	8	10	8	0	3	4	2	1	1	3	3	4	3	4	0	1	3	3	0	1	5	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr13:103287990G>C	ENST00000376052.3	+	12	1463	c.1447G>C	c.(1447-1449)Gaa>Caa	p.E483Q	TPP2_ENST00000376065.4_Missense_Mutation_p.E483Q			P29144	TPP2_HUMAN	tripeptidyl peptidase II	483					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					AAGAGCTCTAGAAAACACTGC	0.353													C	103287990	G	C	103287990	3	2	411	1	0	0	0	0	1	0	0	0	16513	943	33	4	1493	4	TPP2	13	103287990	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	49	103287990	11881888	55	41417											
TTC5	91875	broad.mit.edu	37	chr14	20763631	20763631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcactgcaagggcctagatGggctgggcgcaagcttccca	9	7	13	12	1	1	1	1	0	0	1	2	1	2	1	2	3	2	4	2	3	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:20763631G>A	ENST00000258821.3	-	8	954	c.898C>T	c.(898-900)Cat>Tat	p.H300Y		NM_138376.2	NP_612385.2	Q8N0Z6	TTC5_HUMAN	tetratricopeptide repeat domain 5	300					DNA repair	cytoplasm|nucleus	binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_cancers(95;0.00092)		Epithelial(56;1.1e-06)|all cancers(55;8.07e-06)	GBM - Glioblastoma multiforme(265;0.0106)		GGGCCTAGATGGGCTGGGCGC	0.547													A	20763631	G	A	20763631	3	1	411	1	0	0	0	0	1	0	0	0	16813	1348	47	2	436	2	TTC5	14	20763631	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		20763631	86585909	56	41418											
DAD1	1603	broad.mit.edu	37	chr14	23058038	23058038	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actcttctaagaaccgcgaaAtgacagacactaccgacgcc	14	6	7	14	4	2	3	0	1	2	2	2	5	2	3	3	0	2	0	3	0	4	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:23058038A>C	ENST00000250498.4	-	1	137	c.26T>G	c.(25-27)aTt>aGt	p.I9S	DAD1_ENST00000543337.1_Missense_Mutation_p.I9S|DAD1_ENST00000538631.1_Missense_Mutation_p.I9S	NM_001344.2	NP_001335.1	P61803	DAD1_HUMAN	defender against cell death 1	9					anti-apoptosis|apoptosis|post-translational protein modification	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity			large_intestine(2)|ovary(2)|prostate(1)	5	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0156)		GAACCGCGAAATGACAGACAC	0.572													C	23058038	A	C	23058038	3	2	411	1	0	0	0	0	1	0	0	0	4258	101	4	5	323	5	DAD1	14	23058038	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	2294407	23058038	84291502	57	41419											
MYH7	4625	broad.mit.edu	37	chr14	23887505	23887505	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctccgagttggccttggaAaggacgcgctgcagctcggc	7	7	14	13	4	0	0	0	0	0	0	2	3	1	2	3	4	2	4	3	4	1	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:23887505A>C	ENST00000355349.3	-	30	4245	c.4083T>G	c.(4081-4083)ctT>ctG	p.L1361L		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1361					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.L1361L(1)		NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TGGCCTTGGAAAGGACGCGCT	0.652													C	23887505	A	C	23887505	2	2	411	1	0	0	0	0	0	0	0	1	10115	1	1	5		5	MYH7	14	23887505	Silent	SNP	A	TCGA-DU-8167-01A-11D-2253-08	829467	23887505	83462035	58	41420											
PRKCH	5583	broad.mit.edu	37	chr14	62014584	62014584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaaccatcgccaaatagaaCcgcctttcagacccagaatc	14	7	6	14	2	1	4	1	1	0	3	3	4	1	4	5	0	2	0	5	0	5	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:62014584C>T	ENST00000332981.5	+	13	2270	c.1885C>T	c.(1885-1887)Ccg>Tcg	p.P629S	RP11-47I22.4_ENST00000556347.1_Silent_p.N133N|PRKCH_ENST00000556245.1_3'UTR|PRKCH_ENST00000555082.1_Missense_Mutation_p.P468S	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	629	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		CCAAATAGAACCGCCTTTCAG	0.522													T	62014584	C	T	62014584	3	4	411	1	0	0	0	0	1	0	0	0	12599	507	18	2	1935	2	PRKCH	14	62014584	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	38127079	62014584	45334956	59	41421											
PCNX	22990	broad.mit.edu	37	chr14	71445338	71445338	+	Frame_Shift_Del	DEL	G	G	-																															accaggttgcatttcctgaaGgggaagagcaagatgcagtc																										TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:71445338delG	ENST00000304743.2	+	6	2730	c.2284delG	c.(2284-2286)gggfs	p.G762fs	PCNX_ENST00000238570.5_Frame_Shift_Del_p.G762fs|PCNX_ENST00000439984.3_Frame_Shift_Del_p.G762fs	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	762						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTTCCTGAAGGGGAAGAGCA	0.418													-	71445338	G	-	71445338	7	5	411	1	0	1	0	1	0	0	0	0	11667	1000	35	0	2306	0	PCNX	14	71445338	Frame_Shift_Del	DEL	G	TCGA-DU-8167-01A-11D-2253-08	9430754	71445338	35904202	60	41422											
NRXN3	9369	broad.mit.edu	37	chr14	79746731	79746731	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgtatcgtcagctctGtatggagttcttctaatgta	8	15	12	6	1	4	0	1	0	3	0	5	2	4	2	0	3	1	5	0	3	4	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:79746731G>T	ENST00000281127.7	+	1	976	c.97G>T	c.(97-99)Gta>Tta	p.V33L	NRXN3_ENST00000554719.1_Intron|NRXN3_ENST00000557594.1_Missense_Mutation_p.V33L|NRXN3_ENST00000335750.5_Intron|NRXN3_ENST00000428277.2_Missense_Mutation_p.V33L	NM_138970.3	NP_620426.2	Q9HDB5	NRX3B_HUMAN	neurexin 3	33					angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		CGTCAGCTCTGTATGGAGTTC	0.587													T	79746731	G	T	79746731	3	4	411	1	0	0	0	0	1	0	0	0	10743	1377	48	4	2282	4	NRXN3	14	79746731	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8301393	79746731	27602809	61	41423											
ASB2	51676	broad.mit.edu	37	chr14	94404157	94404157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcgatgatgggccccGcccagcggctcacctctggg	6	6	14	15	3	2	1	1	1	1	0	3	3	2	2	4	4	1	1	4	4	0	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr14:94404157G>A	ENST00000555019.1	-	9	2088	c.1658C>T	c.(1657-1659)gCg>gTg	p.A553V	ASB2_ENST00000315988.4_Missense_Mutation_p.A505V	NM_001202429.1	NP_001189358.1	Q96Q27	ASB2_HUMAN	ankyrin repeat and SOCS box containing 2	505	SOCS box.				intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)|urinary_tract(1)	27		all_cancers(154;0.13)		COAD - Colon adenocarcinoma(157;0.217)|Epithelial(152;0.232)		GATGGGCCCCGCCCAGCGGCT	0.597													A	94404157	G	A	94404157	3	1	411	1	0	0	0	0	1	0	0	0	1028	1087	38	1	257	1	ASB2	14	94404157	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	14657426	94404157	12945383	62	41424											
FBN1	2200	broad.mit.edu	37	chr15	48760623	48760623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaccaacacagccaactCgagttgggttcagttcaaaa	13	10	7	11	1	3	0	2	0	1	0	4	1	3	0	2	1	4	3	2	1	5	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:48760623C>T	ENST00000316623.5	-	37	5023	c.4568G>A	c.(4567-4569)cGa>cAa	p.R1523Q		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1523	EGF-like 26; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		ACAGCCAACTCGAGTTGGGTT	0.438													T	48760623	C	T	48760623	3	4	411	1	0	0	0	0	1	0	0	0	5751	884	31	1	4167	1	FBN1	15	48760623	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		48760623	53770769	63	41425											
NOX5	79400	broad.mit.edu	37	chr15	69348973	69348973	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtggctccccagctctGgccaaggtgctgaagggcca	6	9	13	13	0	2	1	0	1	2	0	3	1	3	1	4	4	2	3	4	4	2	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr15:69348973G>A	ENST00000260364.5	+	17	2482	c.2181G>A	c.(2179-2181)ctG>ctA	p.L727L	NOX5_ENST00000448182.3_Silent_p.L699L|NOX5_ENST00000455873.3_Silent_p.L710L|NOX5_ENST00000530406.2_Silent_p.L717L|NOX5_ENST00000388866.3_Silent_p.L745L			Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	745					angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						CCCCAGCTCTGGCCAAGGTGC	0.537													A	69348973	G	A	69348973	2	1	411	1	0	0	0	0	0	0	0	1	10635	1335	47	2		2	NOX5	15	69348973	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	20588350	69348973	33182419	64	41426											
CDH8	1006	broad.mit.edu	37	chr16	61760949	61760949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaggttagtcaaatatgaGacagttgtatacaaacatat	16	12	8	5	0	1	1	1	1	0	1	1	2	1	1	0	1	3	4	0	1	7	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr16:61760949G>C	ENST00000584337.1	-	9	2106	c.1585C>G	c.(1585-1587)Ctc>Gtc	p.L529V	CDH8_ENST00000577390.1_Intron|CDH8_ENST00000577730.1_Intron|CDH8_ENST00000299345.6_Intron			P55286	CADH8_HUMAN	cadherin 8, type 2	639	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TCAAATATGAGACAGTTGTAT	0.363													C	61760949	G	C	61760949	3	2	411	1	0	0	0	0	1	0	0	0	3146	957	33	4		4	CDH8	16	61760949	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		61760949	28593804	65	41427											
CMTM1	113540	broad.mit.edu	37	chr16	66612848	66612848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagttgaaaggaagctttccCccgccaaggacgcctacccc	11	6	9	15	2	0	1	0	1	0	0	1	3	1	3	6	2	2	2	6	2	5	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr16:66612848C>T	ENST00000379500.2	+	4	872	c.805C>T	c.(805-807)Ccc>Tcc	p.P269S	CMTM1_ENST00000528324.1_3'UTR|CMTM1_ENST00000533666.1_3'UTR|CMTM1_ENST00000529506.1_Missense_Mutation_p.P53S|CMTM1_ENST00000328020.6_3'UTR|CMTM1_ENST00000531885.1_3'UTR|CKLF-CMTM1_ENST00000527729.1_Missense_Mutation_p.P98S|CMTM1_ENST00000336328.6_Missense_Mutation_p.P99S|CMTM1_ENST00000457188.2_Missense_Mutation_p.P152S|CMTM1_ENST00000533953.1_Missense_Mutation_p.P221S|CMTM1_ENST00000332695.7_Missense_Mutation_p.P105S	NM_052999.3|NM_181268.2	NP_443725.3|NP_851785.2	Q8IZ96	CKLF1_HUMAN	CKLF-like MARVEL transmembrane domain containing 1	152					chemotaxis	extracellular space|integral to membrane	cytokine activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0702)|Epithelial(162;0.222)		GAAGCTTTCCCCCGCCAAGGA	0.602													T	66612848	C	T	66612848	3	4	411	1	0	0	0	0	1	0	0	0	3613	623	22	2	819	2	CMTM1	16	66612848	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	4851899	66612848	23741905	66	41428											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7578413C>G	ENST00000420246.2	-	5	649	c.517G>C	c.(517-519)Gtg>Ctg	p.V173L	TP53_ENST00000445888.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			G	7578413	C	G	7578413	3	3	411	1	0	0	0	0	1	0	0	0	16482	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08		7578413	73616797	67	41429											
ALOX12B	242	broad.mit.edu	37	chr17	7976156	7976156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggggatgggaaggcacttgTtgcgctggcggatgtcgtgt	6	10	19	6	3	0	0	0	0	0	0	1	3	0	3	0	6	1	3	0	6	1	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976156T>C	ENST00000319144.4	-	15	2299	c.2039A>G	c.(2038-2040)aAc>aGc	p.N680S		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	680	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						AAGGCACTTGTTGCGCTGGCG	0.587										Multiple Myeloma(8;0.094)			C	7976156	T	C	7976156	3	2	411	1	0	0	0	0	1	0	0	0	537	1725	60	3	70	3	ALOX12B	17	7976156	Missense_Mutation	SNP	T	TCGA-DU-8167-01A-11D-2253-08	397743	7976156	73219054	68	41430			1	51		2	2	24	N	T_G	6.463652e-05
ALOX12B	242	broad.mit.edu	37	chr17	7976179	7976179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgctggcggatgtcgtgtgaGatctggttcaggcgctggcg	4	10	18	9	5	2	1	1	1	1	1	3	3	2	2	0	5	0	3	0	5	0	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:7976179G>A	ENST00000319144.4	-	15	2276	c.2016C>T	c.(2014-2016)atC>atT	p.I672I		NM_001139.2	NP_001130.1	O75342	LX12B_HUMAN	arachidonate 12-lipoxygenase, 12R type	672	Lipoxygenase.				epidermis development|leukotriene biosynthetic process		arachidonate 12-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	16						TGTCGTGTGAGATCTGGTTCA	0.607										Multiple Myeloma(8;0.094)			A	7976179	G	A	7976179	2	1	411	1	0	0	0	0	0	0	0	1	537	932	33	2		2	ALOX12B	17	7976179	Silent	SNP	G	TCGA-DU-8167-01A-11D-2253-08	23	7976179	73219031	69	41431			1	51		2	2	24	N	T_G	6.463652e-05
LLGL1	3996	broad.mit.edu	37	chr17	18145015	18145015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcgcttcgtgcgtctttaCgcgccatggccagggtgagg	5	10	14	12	5	1	1	0	1	1	0	3	1	1	1	2	3	2	1	2	3	1	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:18145015C>T	ENST00000316843.4	+	18	2849	c.2753C>T	c.(2752-2754)aCg>aTg	p.T918M		NM_004140.3	NP_004131	Q15334	L2GL1_HUMAN	lethal giant larvae homolog 1 (Drosophila)	918					cortical actin cytoskeleton organization|exocytosis|protein complex assembly	cortical actin cytoskeleton	protein kinase binding|structural molecule activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_neural(463;0.228)					TGCGTCTTTACGCGCCATGGC	0.652													T	18145015	C	T	18145015	3	4	411	1	0	0	0	0	1	0	0	0	8894	536	19	1	2823	1	LLGL1	17	18145015	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	10168836	18145015	63050195	70	41432											
HSD17B1	3292	broad.mit.edu	37	chr17	40705302	40705302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgactgagggccgcgtggaCgtgctgggtgagcctcctgg	4	8	19	10	3	0	3	0	3	0	0	1	4	1	4	3	4	2	1	3	4	0	0			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:40705302C>T	ENST00000585807.1	+	2	3978	c.258C>T	c.(256-258)gaC>gaT	p.D86D	RP11-400F19.6_ENST00000590513.1_RNA|HSD17B1_ENST00000225929.5_Silent_p.D86D|RP11-400F19.8_ENST00000585572.1_RNA	NM_000413.2	NP_000404.2	P14061	DHB1_HUMAN	hydroxysteroid (17-beta) dehydrogenase 1	86					estrogen biosynthetic process	cytosol	binding|estradiol 17-beta-dehydrogenase activity			NS(1)|endometrium(1)|kidney(1)|lung(2)	5		all_cancers(22;5.59e-08)|all_epithelial(22;7e-07)|Ovarian(249;0.0261)		BRCA - Breast invasive adenocarcinoma(366;0.129)	NADH(DB00157)	GCCGCGTGGACGTGCTGGGTG	0.642													T	40705302	C	T	40705302	2	4	411	1	0	0	0	0	0	0	0	1	7433	535	19	1		1	HSD17B1	17	40705302	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	22560287	40705302	40489908	71	41433											
ANKRD40	91369	broad.mit.edu	37	chr17	48773483	48773483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcctggaaatcttGgagtcgagcaacatccttgt	9	12	9	11	1	1	0	0	0	1	0	5	3	4	2	3	2	3	2	3	2	2	3			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr17:48773483G>C	ENST00000285243.6	-	5	1251	c.982C>G	c.(982-984)Caa>Gaa	p.Q328E		NM_052855.3	NP_443087.1	Q6AI12	ANR40_HUMAN	ankyrin repeat domain 40	328										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11			BRCA - Breast invasive adenocarcinoma(22;2.03e-09)			TGGAAATCTTGGAGTCGAGCA	0.393													C	48773483	G	C	48773483	3	2	411	1	0	0	0	0	1	0	0	0	669	1357	47	4	128	4	ANKRD40	17	48773483	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	8068181	48773483	32421727	72	41434											
ARMC6	93436	broad.mit.edu	37	chr19	19162910	19162910	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcatgaccttcgatgaCgacatccgtgtgccctttgg	6	12	11	12	4	1	2	1	2	0	0	3	4	2	2	3	1	1	0	3	1	0	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:19162910C>T	ENST00000535612.1	+	5	1191	c.759C>T	c.(757-759)gaC>gaT	p.D253D	ARMC6_ENST00000546344.1_Silent_p.D160D|ARMC6_ENST00000269932.6_Silent_p.D228D|ARMC6_ENST00000392335.2_Silent_p.D228D|ARMC6_ENST00000392336.3_Silent_p.D253D	NM_001199196.1	NP_001186125.1	Q6NXE6	ARMC6_HUMAN	armadillo repeat containing 6	253							protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|prostate(1)	14			OV - Ovarian serous cystadenocarcinoma(5;5.66e-06)|Epithelial(12;0.000391)			CCTTCGATGACGACATCCGTG	0.572													T	19162910	C	T	19162910	2	4	411	1	0	0	0	0	0	0	0	1	960	535	19	1		1	ARMC6	19	19162910	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		19162910	39966073	73	41435											
CEACAM5	1048	broad.mit.edu	37	chr19	42213763	42213763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaagagtggatggcaacCgtcaaattataggatatgta	15	10	12	4	1	1	2	1	1	0	1	1	4	1	4	1	3	1	2	1	3	7	4			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr19:42213763C>T	ENST00000221992.6	+	2	343	c.229C>T	c.(229-231)Cgt>Tgt	p.R77C	CEACAM5_ENST00000398599.4_Missense_Mutation_p.R77C|CEACAM5_ENST00000405816.1_Missense_Mutation_p.R77C|CEA_ENST00000598976.1_Missense_Mutation_p.R77C	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	77	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		GGATGGCAACCGTCAAATTAT	0.488													T	42213763	C	T	42213763	3	4	411	1	0	0	0	0	1	0	0	0	3225	652	23	1	235	1	CEACAM5	19	42213763	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	23050853	42213763	16915220	74	41436											
BANF2	140836	broad.mit.edu	37	chr20	17716423	17716423	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcccagcagacttctcaCtgcctcaaggagtggtgtgc	8	8	13	12	0	2	1	2	0	1	1	3	3	2	2	2	3	3	1	2	3	1	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:17716423C>T	ENST00000246090.5	+	4	502	c.240C>T	c.(238-240)caC>caT	p.H80H	BANF2_ENST00000377805.3_Silent_p.H80H|BANF2_ENST00000545418.2_Silent_p.H87H|BANF2_ENST00000467330.1_3'UTR	NM_178477.4	NP_848572.3	Q9H503	BAFL_HUMAN	barrier to autointegration factor 2	80						cytoplasm|nucleus	DNA binding			large_intestine(1)|lung(1)|prostate(3)|skin(1)	6						AGACTTCTCACTGCCTCAAGG	0.542													T	17716423	C	T	17716423	2	4	411	1	0	0	0	0	0	0	0	1	1313	564	20	2		2	BANF2	20	17716423	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08		17716423	45309097	75	41437											
ARFGEF2	10564	broad.mit.edu	37	chr20	47592595	47592595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaaataggggatgggaaagGccttgacatggcaagacggt	13	6	17	5	1	0	2	0	1	0	1	0	5	0	5	1	7	0	1	1	7	4	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:47592595G>A	ENST00000371917.4	+	14	1817	c.1817G>A	c.(1816-1818)gGc>gAc	p.G606D		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	606					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			GATGGGAAAGGCCTTGACATG	0.532													A	47592595	G	A	47592595	3	1	411	1	0	0	0	0	1	0	0	0	856	1203	42	2	1871	2	ARFGEF2	20	47592595	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	29876172	47592595	15432925	76	41438											
FAM65C	140876	broad.mit.edu	37	chr20	49225174	49225174	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtccaggttctcatgcagCgtggggatgaaggccttctc	7	11	13	10	1	2	1	1	1	2	0	5	2	3	2	2	4	2	2	2	4	1	2	rs144349290		TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr20:49225174C>T	ENST00000327979.2	-	10	1185	c.774G>A	c.(772-774)acG>acA	p.T258T	FAM65C_ENST00000045083.2_Silent_p.T258T|FAM65C_ENST00000535356.1_Silent_p.T262T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	258										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCTCATGCAGCGTGGGGATGA	0.657													T	49225174	C	T	49225174	2	4	411	1	0	0	0	0	0	0	0	1	5651	755	27	1		1	FAM65C	20	49225174	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	1632579	49225174	13800346	77	41439											
EIF3D	8664	broad.mit.edu	37	chr22	36907606	36907606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catcttcatcagagctgaagGtgccatcagggaggctgtag	10	9	13	9	0	4	2	3	1	1	1	4	3	4	3	1	3	2	3	1	3	2	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chr22:36907606G>A	ENST00000216190.8	-	14	1947	c.1577C>T	c.(1576-1578)aCc>aTc	p.T526I	EIF3D_ENST00000405442.1_Missense_Mutation_p.T526I|EIF3D_ENST00000478547.1_5'UTR|EIF3D_ENST00000541106.1_Missense_Mutation_p.T477I	NM_003753.3	NP_003744.1	O15371	EIF3D_HUMAN	eukaryotic translation initiation factor 3, subunit D	526						cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			cervix(1)|endometrium(2)|large_intestine(6)|lung(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	15						AGAGCTGAAGGTGCCATCAGG	0.527											OREG0026522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36907606	G	A	36907606	3	1	411	1	0	0	0	0	1	0	0	0	5055	1261	44	2	77	2	EIF3D	22	36907606	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		36907606	14396960	78	41440											
FAM47B	170062	broad.mit.edu	37	chrX	34962576	34962576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcttatagtgcacagcGtgggaggataaggtatggac	11	10	14	6	1	1	0	0	0	1	0	1	3	1	3	0	4	2	3	0	4	4	5			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:34962576G>A	ENST00000329357.5	+	1	1664	c.1628G>A	c.(1627-1629)cGt>cAt	p.R543H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	543										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AGTGCACAGCGTGGGAGGATA	0.498													A	34962576	G	A	34962576	3	1	411	1	0	0	0	0	1	0	0	0	5621	1145	40	1	1630	1	FAM47B	23	34962576	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08		34962576	120307984	79	41441											
TBC1D25	4943	broad.mit.edu	37	chrX	48418056	48418056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggactgacaggccgagagCggatggactacatgaaacgc	13	5	14	9	3	0	3	0	2	0	1	0	7	0	6	1	4	3	0	1	4	2	1			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48418056C>T	ENST00000376771.4	+	6	1101	c.760C>T	c.(760-762)Cgg>Tgg	p.R254W	TBC1D25_ENST00000476141.1_3'UTR|TBC1D25_ENST00000537536.1_5'UTR	NM_002536.2	NP_002527.1	Q3MII6	TBC25_HUMAN	TBC1 domain family, member 25	254	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	4						AGGCCGAGAGCGGATGGACTA	0.587													T	48418056	C	T	48418056	3	4	411	1	0	0	0	0	1	0	0	0	15712	759	27	1	782	1	TBC1D25	23	48418056	Missense_Mutation	SNP	C	TCGA-DU-8167-01A-11D-2253-08	13455480	48418056	106852504	80	41442											
WAS	7454	broad.mit.edu	37	chrX	48545245	48545245	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgacatcacgagttcacgatAccgtgggctcccagcacctg	9	8	10	14	3	2	1	2	1	0	0	3	3	3	1	3	1	2	3	3	1	1	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:48545245A>T	ENST00000376701.4	+	7	710	c.635A>T	c.(634-636)tAc>tTc	p.Y212F	WAS_ENST00000483750.1_3'UTR	NM_000377.2	NP_000368.1	P42768	WASP_HUMAN	Wiskott-Aldrich syndrome	212					blood coagulation|defense response|epidermis development|immune response|T cell receptor signaling pathway	actin cytoskeleton|cytosol	identical protein binding|small GTPase regulator activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	28		all_lung(315;1.27e-10)				AGTTCACGATACCGTGGGCTC	0.572			"Mis, N, F, S"			lymphoma							T	48545245	A	T	48545245	3	4	411	1	0	0	0	0	1	0	0	0	17353	391	14	5	661	5	WAS	23	48545245	Missense_Mutation	SNP	A	TCGA-DU-8167-01A-11D-2253-08	127189	48545245	106725315	81	41443											
SHROOM4	57477	broad.mit.edu	37	chrX	50377586	50377586	+	Frame_Shift_Del	DEL	G	G	-																															gtccatcagcctctccatgtGggggactgctttggctctgg																										TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:50377586delG	ENST00000376020.2	-	4	1512	c.1487delC	c.(1486-1488)ccafs	p.P496fs	SHROOM4_ENST00000289292.7_Frame_Shift_Del_p.P496fs|SHROOM4_ENST00000460112.3_Frame_Shift_Del_p.P380fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	496					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					CTCTCCATGTGGGGGACTGCT	0.527													-	50377586	G	-	50377586	7	5	411	1	0	1	0	1	0	0	0	0	14390	1348	47	0	3018	0	SHROOM4	23	50377586	Frame_Shift_Del	DEL	G	TCGA-DU-8167-01A-11D-2253-08	1832341	50377586	104892974	82	41444											
ALAS2	212	broad.mit.edu	37	chrX	55042060	55042060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcataattccatcacgctcCccaatcccagcgccccggga	9	7	7	18	3	1	0	1	0	0	0	4	1	4	1	6	1	2	2	6	1	2	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:55042060C>T	ENST00000330807.5	-	8	1256	c.1119G>A	c.(1117-1119)ggG>ggA	p.G373G	ALAS2_ENST00000335854.4_Silent_p.G336G|ALAS2_ENST00000396198.3_Silent_p.G360G|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	373					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	CATCACGCTCCCCAATCCCAG	0.527													T	55042060	C	T	55042060	2	4	411	1	0	0	0	0	0	0	0	1	485	610	22	2		2	ALAS2	23	55042060	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	4664474	55042060	100228500	83	41445											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909629	G	A	76909629	4	1	411	1	0	0	0	0	0	1	0	0	1213	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	21867569	76909629	78360931	84	41446											
H2BFWT	158983	broad.mit.edu	37	chrX	103267993	103267993	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcggaaataggtggcgaaGctgtccccgcggcagttgga	8	6	17	10	5	0	0	0	0	0	0	1	3	1	2	2	6	1	3	2	6	3	2			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:103267993G>T	ENST00000217926.5	-	1	266	c.240C>A	c.(238-240)agC>agA	p.S80R		NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	80					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGGTGGCGAAGCTGTCCCCGC	0.612													T	103267993	G	T	103267993	3	4	411	1	0	0	0	0	1	0	0	0	6987	962	34	4	295	4	H2BFWT	23	103267993	Missense_Mutation	SNP	G	TCGA-DU-8167-01A-11D-2253-08	26358364	103267993	52002567	85	41447											
TRPC5	7224	broad.mit.edu	37	chrX	111024435	111024435	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtcagcattgcgttcCtataattgaaaatagacaga	14	11	9	7	1	1	3	1	1	0	2	2	3	2	3	1	1	2	3	1	1	5	6			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:111024435C>T	ENST00000262839.2	-	9	3019		c.e9-1			NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5						axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CATTGCGTTCCTATAATTGAA	0.403													T	111024435	C	T	111024435	5	4	411	1	0	0	0	0	0	0	1	0	16683	695	24	2	833	2	TRPC5	23	111024435	Splice_Site	SNP	C	TCGA-DU-8167-01A-11D-2253-08	7756442	111024435	44246125	86	41448											
BRS3	680	broad.mit.edu	37	chrX	135574306	135574306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggctttcagcaattcttgCgtaaacccctttgctctcta	7	16	6	12	1	3	0	1	0	2	0	4	0	3	0	2	1	4	4	2	1	4	7			TCGA-DU-8167-01A-11D-2253-08	TCGA-DU-8167-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	abec779c-5d98-4e48-ae7f-33158ced8b86	3c841a53-9778-4460-89ac-4fb1d9dd5f73	g.chrX:135574306C>T	ENST00000370648.3	+	3	1200	c.972C>T	c.(970-972)tgC>tgT	p.C324C		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	324					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					GCAATTCTTGCGTAAACCCCT	0.468													T	135574306	C	T	135574306	2	4	411	1	0	0	0	0	0	0	0	1	1531	776	27	1		1	BRS3	23	135574306	Silent	SNP	C	TCGA-DU-8167-01A-11D-2253-08	24549871	135574306	19696254	87	41449											
FUBP1	8880	broad.mit.edu	37	chr1	78433338	78433339	+	Frame_Shift_Del	DEL	TG	TG	-																															gctgatgcatcggtggtaacTgtgttccaaaagctatcaaa																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:78433338_78433339delTG	ENST00000370767.1	-	4	349_350	c.262_263delCA	c.(262-264)cagfs	p.Q88fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Q88fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Q109fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	88					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CGGTGGTAACTGTGTTCCAAAA	0.282			"F, N"		oligodendroglioma								-	78433339	TG	-	78433338	7	5	412	1	0	1	0	1	0	0	0	0	6144	1580	55	0	1739	0	FUBP1	1	78433338	Frame_Shift_Del	DEL	TG	TCGA-DU-8168-01A-11D-2253-08		78433338	170817283	1	41450											
CACNA1E	777	broad.mit.edu	37	chr1	181707520	181707520	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcctgaggtattttgaCtatgtgttcacgggcgtgtt	6	15	13	7	2	1	2	1	2	0	0	2	2	2	2	1	3	0	3	1	3	2	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:181707520C>T	ENST00000526775.1	+	23	3678	c.3513C>T	c.(3511-3513)gaC>gaT	p.D1171D	CACNA1E_ENST00000367573.2_Silent_p.D1190D|CACNA1E_ENST00000357570.5_Silent_p.D1141D|CACNA1E_ENST00000367567.4_Silent_p.D797D|CACNA1E_ENST00000367570.1_Silent_p.D1190D|CACNA1E_ENST00000358338.5_Silent_p.D1122D|CACNA1E_ENST00000360108.3_Silent_p.D1171D	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1190					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GGTATTTTGACTATGTGTTCA	0.478													T	181707520	C	T	181707520	2	4	412	1	0	0	0	0	0	0	0	1	2568	564	20	2		2	CACNA1E	1	181707520	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	103274182	181707520	67543101	2	41451											
DEGS1	8560	broad.mit.edu	37	chr1	224377867	224377867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttggcctgggtttgcaccCaatttctggacattttatag	8	15	9	9	0	1	0	0	0	1	0	1	1	1	1	2	3	1	2	2	3	3	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:224377867C>T	ENST00000323699.4	+	2	837	c.671C>T	c.(670-672)cCa>cTa	p.P224L	DEGS1_ENST00000391877.3_Missense_Mutation_p.P224L	NM_003676.3	NP_003667.1	O15121	DEGS1_HUMAN	delta(4)-desaturase, sphingolipid 1	224					sphingolipid metabolic process|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	electron carrier activity|protein binding|sphingolipid delta-4 desaturase activity			breast(1)|kidney(3)|large_intestine(2)|lung(4)	10	Breast(184;0.193)			GBM - Glioblastoma multiforme(131;0.00643)		GGTTTGCACCCAATTTCTGGA	0.373													T	224377867	C	T	224377867	3	4	412	1	0	0	0	0	1	0	0	0	4461	594	21	2	677	2	DEGS1	1	224377867	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	42670347	224377867	24872754	3	41452											
OR2T4	127074	broad.mit.edu	37	chr1	248525565	248525565	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagacacctcactctatgAgattttcatgtacttgtgct	9	15	6	11	0	4	2	3	1	1	2	4	3	4	2	1	0	2	2	1	0	2	5			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr1:248525565A>T	ENST00000366475.1	+	1	683	c.683A>T	c.(682-684)gAg>gTg	p.E228V		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCACTCTATGAGATTTTCATG	0.478													T	248525565	A	T	248525565	3	4	412	1	0	0	0	0	1	0	0	0	11103	304	11	5	685	5	OR2T4	1	248525565	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	24147698	248525565	725056	4	41453											
FAM168B	130074	broad.mit.edu	37	chr2	131813195	131813197	+	In_Frame_Del	DEL	GGA	GGA	-																															gcagtctggtaggggttcggGgaggaggagtacggtggcac																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:131813195_131813197delGGA	ENST00000409185.1	-	4	333_335	c.226_228delTCC	c.(226-228)tccdel	p.S76del	FAM168B_ENST00000389915.3_In_Frame_Del_p.S76del	NM_001009993.2	NP_001009993.2	A1KXE4	F168B_HUMAN	family with sequence similarity 168, member B	76										endometrium(3)|lung(2)	5						AGGGGTTCGGGGAGGAGGAGTAC	0.586													-	131813197	GGA	-	131813195	7	5	412	1	0	1	0	1	0	0	0	0	5531	1219	43	0	371	0	FAM168B	2	131813195	In_Frame_Del	DEL	GGA	TCGA-DU-8168-01A-11D-2253-08		131813195	111386178	5	41454											
TANC1	85461	broad.mit.edu	37	chr2	160053205	160053205	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attctccagtacctgctgacTtgtgagtggtcgccgggtcc	5	12	12	12	2	1	2	0	2	1	0	4	2	2	2	4	2	2	2	4	2	1	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:160053205T>C	ENST00000263635.6	+	18	3303	c.3066T>C	c.(3064-3066)acT>acC	p.T1022T	TANC1_ENST00000454300.1_Silent_p.T916T	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1022						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						ACCTGCTGACTTGTGAGTGGT	0.667													C	160053205	T	C	160053205	2	2	412	1	0	0	0	0	0	0	0	1	15641	1596	56	3		3	TANC1	2	160053205	Silent	SNP	T	TCGA-DU-8168-01A-11D-2253-08	28240010	160053205	83146168	6	41455											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	412	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	49059907	209113112	34086261	7	41456											
D2HGDH	728294	broad.mit.edu	37	chr2	242707146	242707146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggtaacctgcacctcaAtgtgacggcggaggccttca	10	8	12	11	2	2	2	2	1	0	1	2	3	2	3	3	4	2	2	3	4	2	2	rs149519095	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr2:242707146A>G	ENST00000321264.4	+	10	1537	c.1328A>G	c.(1327-1329)aAt>aGt	p.N443S	D2HGDH_ENST00000403782.1_Missense_Mutation_p.N309S|D2HGDH_ENST00000486953.1_3'UTR	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	443					2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CTGCACCTCAATGTGACGGCG	0.697													G	242707146	A	G	242707146	3	3	412	1	0	0	0	0	1	0	0	0	4247	101	4	3	1362	3	D2HGDH	2	242707146	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	33594034	242707146	492227	8	41457											
VGLL4	9686	broad.mit.edu	37	chr3	11600050	11600050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggagaccacagagggggAgtgactgtggctgaccatgt	10	7	16	8	0	1	4	1	2	0	2	1	6	1	5	2	4	0	1	2	4	0	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:11600050A>G	ENST00000273038.3	-	6	1218	c.853T>C	c.(853-855)Tcc>Ccc	p.S285P	VGLL4_ENST00000430365.2_Missense_Mutation_p.S291P|VGLL4_ENST00000413604.1_Missense_Mutation_p.S226P|VGLL4_ENST00000404339.1_Missense_Mutation_p.S290P|VGLL4_ENST00000451674.2_Missense_Mutation_p.S205P|VGLL4_ENST00000424529.2_Missense_Mutation_p.S201P	NM_001284391.1|NM_014667.2	NP_001271320.1|NP_055482.2	Q14135	VGLL4_HUMAN	vestigial like 4 (Drosophila)	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|endometrium(1)|large_intestine(1)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10				LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)		ACAGAGGGGGAGTGACTGTGG	0.577													G	11600050	A	G	11600050	3	3	412	1	0	0	0	0	1	0	0	0	17263	304	11	3	23	3	VGLL4	3	11600050	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08		11600050	186422380	9	41458											
DNAH1	25981	broad.mit.edu	37	chr3	52420205	52420205	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gccatcgccgaggagacccgGaattcagtgcagacagagga	12	4	14	11	3	1	3	1	0	0	3	2	7	1	5	3	3	1	1	3	3	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52420205G>A	ENST00000420323.2	+	55	8916	c.8655G>A	c.(8653-8655)cgG>cgA	p.R2885R		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2885	Stalk (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)		AGGAGACCCGGAATTCAGTGC	0.557													A	52420205	G	A	52420205	2	1	412	1	0	0	0	0	0	0	0	1	4636	1161	41	2		2	DNAH1	3	52420205	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	40820155	52420205	145602225	10	41459											
PBRM1	55193	broad.mit.edu	37	chr3	52661373	52661376	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															tatcgtctctcctggcaagcTctttcttctttgcctaaaac																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:52661373_52661376delTCTT	ENST00000356770.4	-	12	1360_1363	c.1358_1361delAAGA	c.(1357-1362)aaagagfs	p.KE453fs	PBRM1_ENST00000296302.7_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.KE485fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.KE485fs			Q86U86	PB1_HUMAN	polybromo 1	485	Bromo 3.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCTGGCAAGCTCTTTCTTCTTTGC	0.422			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52661376	TCTT	-	52661373	7	5	412	1	0	1	0	1	0	0	0	0	11567	1551	54	0	3515	0	PBRM1	3	52661373	Frame_Shift_Del	DEL	TCTT	TCGA-DU-8168-01A-11D-2253-08	241168	52661373	145361057	11	41460											
PLXND1	23129	broad.mit.edu	37	chr3	129290353	129290353	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccccgaatgcctcaccGtgggctcccggccaatgtgg	6	6	13	16	3	1	0	1	0	0	0	2	1	2	0	6	4	1	1	6	4	2	0	rs146029556		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:129290353G>A	ENST00000393239.1	-	17	3513	c.3335C>T	c.(3334-3336)aCg>aTg	p.T1112M	PLXND1_ENST00000324093.4_Splice_Site_p.T1112M			Q9Y4D7	PLXD1_HUMAN	plexin D1	1112	IPT/TIG 3.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ATGCCTCACCGTGGGCTCCCG	0.662													A	129290353	G	A	129290353	5	1	412	1	0	0	0	0	0	0	1	0	12204	1159	40	1	2522	1	PLXND1	3	129290353	Splice_Site	SNP	G	TCGA-DU-8168-01A-11D-2253-08	76628980	129290353	68732077	12	41461											
BFSP2	8419	broad.mit.edu	37	chr3	133191307	133191307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggaaatccgagcggaggCggagcagcagcaacaggagc	13	1	17	10	3	0	0	0	0	0	0	1	5	1	4	1	5	6	3	1	5	2	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:133191307C>T	ENST00000302334.2	+	6	1231	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	BFSP2_ENST00000511434.1_3'UTR	NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	381	Rod.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						CGAGCGGAGGCGGAGCAGCAG	0.667													T	133191307	C	T	133191307	3	4	412	1	0	0	0	0	1	0	0	0	1422	768	27	1	1164	1	BFSP2	3	133191307	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	3900954	133191307	64831123	13	41462											
PRR23B	389151	broad.mit.edu	37	chr3	138738764	138738764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgttccgggagcggcgagCgcgcgtggggacctggactc	4	5	20	12	7	0	0	0	0	0	0	2	4	1	3	2	6	2	1	2	6	0	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:138738764C>T	ENST00000329447.5	-	1	1004	c.740G>A	c.(739-741)cGc>cAc	p.R247H	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	247	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAGCGGCGAGCGCGCGTGGGG	0.657													T	138738764	C	T	138738764	3	4	412	1	0	0	0	0	1	0	0	0	12681	768	27	1	61	1	PRR23B	3	138738764	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	5547457	138738764	59283666	14	41463											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916940	GAA	-	178916938	7	5	412	1	0	1	0	1	0	0	0	0	11990	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	40178174	178916938	19105492	15	41464											
WDFY3	23001	broad.mit.edu	37	chr4	85715705	85715708	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															gagttcctctttggtggaaaCaatcagagatcggtcttttg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:85715705_85715708delCAAT	ENST00000322366.6	-	21	3858_3861	c.3451_3454delATTG	c.(3451-3456)attgttfs	p.IV1151fs	WDFY3_ENST00000295888.4_Frame_Shift_Del_p.IV1151fs			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1151						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TTGGTGGAAACAATCAGAGATCGG	0.358													-	85715708	CAAT	-	85715705	7	5	412	1	0	1	0	1	0	0	0	0	17372	478	17	0	7318	0	WDFY3	4	85715705	Frame_Shift_Del	DEL	CAAT	TCGA-DU-8168-01A-11D-2253-08		85715705	105438571	16	41465											
LRAT	9227	broad.mit.edu	37	chr4	155665633	155665633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgaggcgacgtgctggAggtgccccggacccacctga	7	4	14	16	4	0	1	0	1	0	0	0	5	0	3	6	4	2	1	6	4	0	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:155665633A>G	ENST00000336356.3	+	2	408	c.155A>G	c.(154-156)gAg>gGg	p.E52G	LRAT_ENST00000507827.1_Missense_Mutation_p.E52G	NM_004744.3	NP_004735.2	O95237	LRAT_HUMAN	lecithin retinol acyltransferase (phosphatidylcholine--retinol O-acyltransferase)	52					response to stimulus|retinoid metabolic process|steroid metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|multivesicular body|perinuclear region of cytoplasm|rough endoplasmic reticulum	phosphatidylcholine-retinol O-acyltransferase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)	16	all_hematologic(180;0.215)	Renal(120;0.0458)			Vitamin A(DB00162)	GACGTGCTGGAGGTGCCCCGG	0.572													G	155665633	A	G	155665633	3	3	412	1	0	0	0	0	1	0	0	0	9000	304	11	3	157	3	LRAT	4	155665633	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	69949928	155665633	35488643	17	41466											
SAP30	8819	broad.mit.edu	37	chr4	174292617	174292619	+	In_Frame_Del	DEL	AGA	AGA	-																															gatccagaagagcatctcccAgaagaaggtgaagatcgagc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr4:174292617_174292619delAGA	ENST00000296504.3	+	1	524_526	c.284_286delAGA	c.(283-288)cagaag>cag	p.K97del		NM_003864.3	NP_003855.1	O75446	SAP30_HUMAN	Sin3A-associated protein, 30kDa	97	Interaction with NCOR1 (By similarity).				transcription, DNA-dependent	histone deacetylase complex	DNA binding|metal ion binding|protein binding|transcription corepressor activity			large_intestine(1)|lung(2)|ovary(1)	4		Prostate(90;0.00601)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_neural(102;0.0837)|all_hematologic(60;0.107)		all cancers(43;1.15e-17)|Epithelial(43;4.33e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.62e-09)|STAD - Stomach adenocarcinoma(60;0.00278)|GBM - Glioblastoma multiforme(59;0.00659)|LUSC - Lung squamous cell carcinoma(193;0.0919)		AGCATCTCCCAGAAGAAGGTGAA	0.675													-	174292619	AGA	-	174292617	7	5	412	1	0	1	0	1	0	0	0	0	13925	188	7	0	286	0	SAP30	4	174292617	In_Frame_Del	DEL	AGA	TCGA-DU-8168-01A-11D-2253-08	18626984	174292617	16861659	18	41467											
ERBB2IP	55914	broad.mit.edu	37	chr5	65338967	65338967	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaggaacagaggaaacagCgggctcaagttgcatttgaa	14	6	15	6	1	1	2	1	1	0	1	1	5	1	5	0	4	4	3	0	4	4	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:65338967C>A	ENST00000284037.5	+	16	1758	c.1369C>A	c.(1369-1371)Cgg>Agg	p.R457R	ERBB2IP_ENST00000511297.1_Silent_p.R457R|ERBB2IP_ENST00000380943.2_Silent_p.R457R|ERBB2IP_ENST00000380936.1_Silent_p.R457R|ERBB2IP_ENST00000508515.1_Silent_p.R457R|ERBB2IP_ENST00000380939.2_Silent_p.R457R|ERBB2IP_ENST00000416865.2_Intron|ERBB2IP_ENST00000380938.2_Silent_p.R457R|ERBB2IP_ENST00000380935.1_Silent_p.R457R|ERBB2IP_ENST00000506030.1_Silent_p.R457R	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	457					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		GAGGAAACAGCGGGCTCAAGT	0.353													A	65338967	C	A	65338967	2	1	412	1	0	0	0	0	0	0	0	1	5248	759	27	4		4	ERBB2IP	5	65338967	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		65338967	115576293	19	41468											
THBS4	7060	broad.mit.edu	37	chr5	79335903	79335903	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctcccttcttcccagtctTtgaccttctcccatcttcca	4	17	2	18	0	5	1	0	1	5	0	9	1	7	1	5	0	0	0	5	0	0	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:79335903T>G	ENST00000350881.2	+	2	282	c.92T>G	c.(91-93)tTt>tGt	p.F31C	THBS4_ENST00000511733.1_5'UTR	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	31	TSP N-terminal.				endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TTCCCAGTCTTTGACCTTCTC	0.493													G	79335903	T	G	79335903	3	3	412	1	0	0	0	0	1	0	0	0	15956	1841	64	5	98	5	THBS4	5	79335903	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	13996936	79335903	101579357	20	41469											
DMXL1	1657	broad.mit.edu	37	chr5	118479596	118479598	+	In_Frame_Del	DEL	ATT	ATT	-																															caacagccaggccaggatgcAttattgcattagatcccatt																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118479596_118479598delATT	ENST00000311085.8	+	14	2517_2519	c.2437_2439delATT	c.(2437-2439)attdel	p.I814del	DMXL1_ENST00000539542.1_In_Frame_Del_p.I814del	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	814										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GCCAGGATGCATTATTGCATTAG	0.286													-	118479598	ATT	-	118479596	7	5	412	1	0	1	0	1	0	0	0	0	4633	217	8	0	2491	0	DMXL1	5	118479596	In_Frame_Del	DEL	ATT	TCGA-DU-8168-01A-11D-2253-08	39143693	118479596	62435664	21	41470											
HSD17B4	3295	broad.mit.edu	37	chr5	118810104	118810106	+	In_Frame_Del	DEL	GAA	GAA	-																															cctttccctcagattcagtgGaagaaggagagaaggttgtg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:118810104_118810106delGAA	ENST00000504811.1	+	5	488_490	c.304_306delGAA	c.(304-306)gaadel	p.E103del	HSD17B4_ENST00000256216.6_In_Frame_Del_p.E78del|HSD17B4_ENST00000515320.1_In_Frame_Del_p.E60del|HSD17B4_ENST00000510025.1_In_Frame_Del_p.E54del|HSD17B4_ENST00000414835.2_5'UTR	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	78	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity	p.E77E(1)		breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	AGATTCAGTGGAAGAAGGAGAGA	0.419													-	118810106	GAA	-	118810104	7	5	412	1	0	1	0	1	0	0	0	0	7441	1175	41	0	243	0	HSD17B4	5	118810104	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	330508	118810104	62105156	22	41471											
NDST1	3340	broad.mit.edu	37	chr5	149927941	149927941	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctggctcagtgcctatcaCgccaaccaggtagctgctgt	7	9	11	14	2	2	0	2	0	0	0	2	0	2	0	3	2	4	5	3	2	3	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:149927941C>T	ENST00000261797.6	+	12	2809	c.2307C>T	c.(2305-2307)caC>caT	p.H769H	NDST1_ENST00000523767.1_Intron	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	769	Heparan sulfate N-sulfotransferase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGCCTATCACGCCAACCAGG	0.627													T	149927941	C	T	149927941	2	4	412	1	0	0	0	0	0	0	0	1	10331	535	19	1		1	NDST1	5	149927941	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	31117837	149927941	30987319	23	41472											
FAT2	2196	broad.mit.edu	37	chr5	150945298	150945298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaggaagtactggagctcCccatccaagccactgtcatc	10	7	9	15	1	1	0	1	0	0	0	4	2	3	2	4	2	3	3	4	2	3	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:150945298C>T	ENST00000261800.5	-	1	3207	c.3195G>A	c.(3193-3195)ggG>ggA	p.G1065G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1065	Cadherin 9.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ACTGGAGCTCCCCATCCAAGC	0.617													T	150945298	C	T	150945298	2	4	412	1	0	0	0	0	0	0	0	1	5739	610	22	2		2	FAT2	5	150945298	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	1017357	150945298	29969962	24	41473											
GLRA1	2741	broad.mit.edu	37	chr5	151239373	151239373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagaggacattcccattcCgggagatccttagcaatttg	10	12	10	9	1	0	2	0	0	0	2	3	4	3	3	3	2	1	2	3	2	3	5			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:151239373C>T	ENST00000274576.4	-	4	741	c.449G>A	c.(448-450)cGg>cAg	p.R150Q	GLRA1_ENST00000545569.1_Missense_Mutation_p.R67Q|GLRA1_ENST00000471351.2_5'UTR|GLRA1_ENST00000455880.2_Missense_Mutation_p.R150Q	NM_000171.3|NM_001146040.1	NP_000162.2|NP_001139512.1	P23415	GLRA1_HUMAN	glycine receptor, alpha 1	150					muscle contraction|negative regulation of transmission of nerve impulse|neuropeptide signaling pathway|positive regulation of acrosome reaction|regulation of membrane potential|startle response	cell junction|chloride channel complex|integral to plasma membrane|intracellular membrane-bounded organelle|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|protein binding|receptor activity|taurine binding|transmitter-gated ion channel activity	p.R150Q(1)		breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	23		all_hematologic(541;0.0341)|Medulloblastoma(196;0.0912)	Kidney(363;0.000171)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Ethanol(DB00898)|Glycine(DB00145)|Halothane(DB01159)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ATTCCCATTCCGGGAGATCCT	0.522													T	151239373	C	T	151239373	3	4	412	1	0	0	0	0	1	0	0	0	6510	652	23	1	948	1	GLRA1	5	151239373	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	294075	151239373	29675887	25	41474											
CYFIP2	26999	broad.mit.edu	37	chr5	156746913	156746915	+	In_Frame_Del	DEL	GAA	GAA	-																															cccctgcggcaggcggtacgGaagaagaagaatgtcctcat																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr5:156746913_156746915delGAA	ENST00000347377.6	+	14	1931_1933	c.1500_1502delGAA	c.(1498-1503)cggaag>cgg	p.K503del	CYFIP2_ENST00000541131.1_In_Frame_Del_p.K428del|CYFIP2_ENST00000318218.6_In_Frame_Del_p.K503del|CYFIP2_ENST00000442283.2_5'UTR|CYFIP2_ENST00000521420.1_In_Frame_Del_p.K477del|CYFIP2_ENST00000522463.1_In_Frame_Del_p.K307del|CYFIP2_ENST00000377576.3_In_Frame_Del_p.K503del|CYFIP2_ENST00000435847.2_In_Frame_Del_p.K177del	NM_001037332.2	NP_001032409.2	Q96F07	CYFP2_HUMAN	cytoplasmic FMR1 interacting protein 2	503					apoptosis|cell-cell adhesion	cell junction|perinuclear region of cytoplasm|synapse|synaptosome	protein binding			breast(1)|endometrium(12)|kidney(2)|lung(23)	38	Renal(175;0.00212)	Medulloblastoma(196;0.0306)|all_neural(177;0.0897)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGCGGTACGGAAGAAGAAGAAT	0.567													-	156746915	GAA	-	156746913	7	5	412	1	0	1	0	1	0	0	0	0	4171	1161	41	0	1550	0	CYFIP2	5	156746913	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	5507540	156746913	24168347	26	41475											
DSP	1832	broad.mit.edu	37	chr6	7583354	7583354	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgggtcccatcgagagacCcagactgagtgtgagtggac	10	8	14	9	1	0	4	0	2	0	2	2	7	1	5	2	2	0	0	2	2	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:7583354C>A	ENST00000379802.3	+	24	6200	c.5859C>A	c.(5857-5859)acC>acA	p.T1953T	DSP_ENST00000418664.2_Silent_p.T1354T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1953	Globular 2.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		ATCGAGAGACCCAGACTGAGT	0.522													A	7583354	C	A	7583354	2	1	412	1	0	0	0	0	0	0	0	1	4820	610	22	4		4	DSP	6	7583354	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		7583354	163531713	27	41476											
SLC44A4	80736	broad.mit.edu	37	chr6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-																															ggatgcgaccggagaaaaaaAagaaggacaggacccctgtg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:31832672_31832674delAAG	ENST00000544672.1	-	19	1913_1915	c.1617_1619delCTT	c.(1615-1620)ttcttt>ttt	p.539_540FF>F	SLC44A4_ENST00000375562.4_In_Frame_Del_p.573_574FF>F|SLC44A4_ENST00000229729.6_In_Frame_Del_p.615_616FF>F	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													-	31832674	AAG	-	31832672	7	5	412	1	0	1	0	1	0	0	0	0	14732	14	1	0	297	0	SLC44A4	6	31832672	In_Frame_Del	DEL	AAG	TCGA-DU-8168-01A-11D-2253-08	24249318	31832672	139282395	28	41477											
HDAC2	3066	broad.mit.edu	37	chr6	114277817	114277818	+	Frame_Shift_Del	DEL	AA	AA	-																															gttgagagctgacaaaactcAaagagtccatcaaacactgg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:114277817_114277818delAA	ENST00000519065.1	-	4	699_700	c.323_324delTT	c.(322-324)tttfs	p.F108fs	HDAC2_ENST00000519108.1_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.F78fs|HDAC2_ENST00000398283.2_Frame_Shift_Del_p.F202fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	108	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.F202fs*1(1)|p.F108fs*1(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	GACAAAACTCAAAGAGTCCATC	0.361													-	114277818	AA	-	114277817	7	5	412	1	0	1	0	1	0	0	0	0	7062	127	5	0	1186	0	HDAC2	6	114277817	Frame_Shift_Del	DEL	AA	TCGA-DU-8168-01A-11D-2253-08	82445145	114277817	56837250	29	41478											
TSPYL4	23270	broad.mit.edu	37	chr6	116574192	116574195	+	Frame_Shift_Del	DEL	GAAA	GAAA	-																															ggtgccagcggattggagtgGaaagagacaccacccggcca																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:116574192_116574195delGAAA	ENST00000420283.1	-	1	1066_1069	c.977_980delTTTC	c.(976-981)ctttccfs	p.LS326fs		NM_021648.4	NP_067680.3	Q9UJ04	TSYL4_HUMAN	TSPY-like 4	326					nucleosome assembly	nucleus				endometrium(2)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(2)	11		all_cancers(87;0.0144)|all_epithelial(87;0.021)|Colorectal(196;0.234)		all cancers(137;0.045)|OV - Ovarian serous cystadenocarcinoma(136;0.0666)|GBM - Glioblastoma multiforme(226;0.095)|Epithelial(106;0.125)		GATTGGAGTGGAAAGAGACACCAC	0.525													-	116574195	GAAA	-	116574192	7	5	412	1	0	1	0	1	0	0	0	0	16762	1174	41	0	268	0	TSPYL4	6	116574192	Frame_Shift_Del	DEL	GAAA	TCGA-DU-8168-01A-11D-2253-08	2296375	116574192	54540875	30	41479											
MED23	9439	broad.mit.edu	37	chr6	131917229	131917229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaatagatgggcagAtagggagactggatctgtac	13	9	12	7	0	1	3	0	0	1	3	2	5	2	4	1	3	1	2	1	3	5	4			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr6:131917229A>G	ENST00000403834.3	-	22	3044	c.2871T>C	c.(2869-2871)taT>taC	p.Y957Y	MED23_ENST00000479213.1_5'UTR|MED23_ENST00000368058.1_Silent_p.Y957Y|MED23_ENST00000368068.3_Silent_p.Y951Y|MED23_ENST00000545957.1_Silent_p.Y592Y|MED23_ENST00000368060.3_Silent_p.Y951Y|MED23_ENST00000354577.4_Silent_p.Y957Y			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	951					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		AGATGGGCAGATAGGGAGACT	0.423													G	131917229	A	G	131917229	2	3	412	1	0	0	0	0	0	0	0	1	9516	340	12	3		3	MED23	6	131917229	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08	15343037	131917229	39197838	31	41480											
CHN2	1124	broad.mit.edu	37	chr7	29519880	29519881	+	Frame_Shift_Del	DEL	TT	TT	-																															tttggccccctctcaaactcTttgcctgttcacagatctcc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:29519880_29519881delTT	ENST00000409041.4	+	1	395_396	c.154_155delTT	c.(154-156)tttfs	p.F52fs	CHN2_ENST00000435288.2_Intron|CHN2_ENST00000539406.1_Intron|CHN2_ENST00000424025.2_Intron|CHN2_ENST00000495789.2_Intron|CHN2_ENST00000222792.6_Intron|CHN2_ENST00000546235.1_Intron|CHN2_ENST00000421775.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000439711.2_Frame_Shift_Del_p.F52fs|CHN2_ENST00000539389.1_Intron	NM_001039936.1	NP_001035025.1	P52757	CHIO_HUMAN	chimerin 2	401					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|membrane	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity			breast(2)|endometrium(3)|large_intestine(2)|lung(12)|ovary(2)|urinary_tract(2)	23						TCTCAAACTCTTTGCCTGTTCA	0.525													-	29519881	TT	-	29519880	7	5	412	1	0	1	0	1	0	0	0	0	3393	1609	56	0	756	0	CHN2	7	29519880	Frame_Shift_Del	DEL	TT	TCGA-DU-8168-01A-11D-2253-08		29519880	129618783	32	41481											
ZMIZ2	83637	broad.mit.edu	37	chr7	44799776	44799776	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagttcaacgggcagggCgccagcttcaacgggggcag	9	4	17	11	3	2	0	2	0	0	0	2	1	2	0	1	4	4	5	1	4	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:44799776C>T	ENST00000309315.4	+	8	1143	c.1020C>T	c.(1018-1020)ggC>ggT	p.G340G	ZMIZ2_ENST00000441627.1_Silent_p.G340G|ZMIZ2_ENST00000265346.7_Intron|ZMIZ2_ENST00000413916.1_Intron|ZMIZ2_ENST00000433667.1_Silent_p.G308G	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	340	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						ACGGGCAGGGCGCCAGCTTCA	0.687													T	44799776	C	T	44799776	2	4	412	1	0	0	0	0	0	0	0	1	17798	755	27	1		1	ZMIZ2	7	44799776	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	15279896	44799776	114338887	33	41482											
HGF	3082	broad.mit.edu	37	chr7	81372731	81372731	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caagagtatagcaccatggcCtcggctggccatcgggattg	9	8	13	11	2	0	1	0	0	0	1	2	2	0	2	3	4	1	3	3	4	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:81372731C>T	ENST00000222390.5	-	7	1029	c.803G>A	c.(802-804)aGg>aAg	p.R268K	HGF_ENST00000457544.2_Missense_Mutation_p.R263K|HGF_ENST00000453411.1_Missense_Mutation_p.R263K|HGF_ENST00000444829.2_Missense_Mutation_p.R268K	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	268	Kringle 2.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						GCACCATGGCCTCGGCTGGCC	0.473													T	81372731	C	T	81372731	3	4	412	1	0	0	0	0	1	0	0	0	7140	681	24	2	1443	2	HGF	7	81372731	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	36572955	81372731	77765932	34	41483											
KLHDC10	23008	broad.mit.edu	37	chr7	129710591	129710591	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtgggggcagcgggggTcgggggactggccagctcaa	6	4	22	9	2	1	0	1	0	0	0	2	1	1	1	1	8	2	3	1	8	1	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:129710591T>G	ENST00000335420.5	+	1	242	c.108T>G	c.(106-108)ggT>ggG	p.G36G		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	36	Gly-rich.									breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						gcagcgggggtcgggggACTG	0.766													G	129710591	T	G	129710591	2	3	412	1	0	0	0	0	0	0	0	1	8413	1654	58	5		5	KLHDC10	7	129710591	Silent	SNP	T	TCGA-DU-8168-01A-11D-2253-08	48337860	129710591	29428072	35	41484											
SLC37A3	84255	broad.mit.edu	37	chr7	140055533	140055533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgcccaccgaagcacAggcactccagagaccaaaaa	16	4	8	13	1	0	1	0	0	0	1	1	3	1	1	4	1	2	3	4	1	4	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr7:140055533A>G	ENST00000326232.9	-	7	756	c.553T>C	c.(553-555)Tgt>Cgt	p.C185R	SLC37A3_ENST00000340308.3_Missense_Mutation_p.C185R|SLC37A3_ENST00000429996.2_Missense_Mutation_p.L136P|SLC37A3_ENST00000447932.2_Missense_Mutation_p.C185R	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	185					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					ACCGAAGCACAGGCACTCCAG	0.473													G	140055533	A	G	140055533	3	3	412	1	0	0	0	0	1	0	0	0	14693	188	7	3	1116	3	SLC37A3	7	140055533	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	10344942	140055533	19083130	36	41485											
CHRNB3	1142	broad.mit.edu	37	chr8	42587448	42587448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacgtaccaccccatggcccCctgggttaagaggctctttc	7	9	9	16	1	1	1	0	0	1	1	2	1	1	1	5	3	1	3	5	3	2	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:42587448C>T	ENST00000289957.2	+	5	1126	c.998C>T	c.(997-999)cCc>cTc	p.P333L		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	333					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CCCATGGCCCCCTGGGTTAAG	0.458													T	42587448	C	T	42587448	3	4	412	1	0	0	0	0	1	0	0	0	3422	623	22	2	1016	2	CHRNB3	8	42587448	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08		42587448	103776574	37	41486											
PREX2	80243	broad.mit.edu	37	chr8	69005869	69005869	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacaatgggtttataatagCattgagagtgctcaagaaga	16	11	10	4	0	1	3	1	1	0	3	1	4	1	3	0	1	3	3	0	1	7	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:69005869C>A	ENST00000288368.4	+	21	2557	c.2280C>A	c.(2278-2280)agC>agA	p.S760R	PREX2_ENST00000529398.1_3'UTR|RP11-403D15.2_ENST00000526901.1_RNA	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	760					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTATAATAGCATTGAGAGTG	0.423													A	69005869	C	A	69005869	3	1	412	1	0	0	0	0	1	0	0	0	12563	709	25	4	2362	4	PREX2	8	69005869	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	26418421	69005869	77358153	38	41487											
TMEM71	137835	broad.mit.edu	37	chr8	133764099	133764099	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatgttgccatctttgtcGcacaggaagctgtcttcagt	7	15	10	9	1	3	0	1	0	2	0	4	1	3	1	1	1	2	4	1	1	2	4			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr8:133764099G>A	ENST00000356838.3	-	4	388	c.246C>T	c.(244-246)tgC>tgT	p.C82C	TMEM71_ENST00000523829.1_Silent_p.C82C|TMEM71_ENST00000517538.1_5'UTR|TMEM71_ENST00000377901.4_Silent_p.C82C	NM_144649.2	NP_653250.2	Q6P5X7	TMM71_HUMAN	transmembrane protein 71	82						integral to membrane		p.C82C(1)		endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16	all_neural(3;2.72e-06)|Medulloblastoma(3;7.08e-05)|Ovarian(258;0.00438)|Esophageal squamous(12;0.00507)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;4.46e-05)			CATCTTTGTCGCACAGGAAGC	0.468													A	133764099	G	A	133764099	2	1	412	1	0	0	0	0	0	0	0	1	16300	1079	38	1		1	TMEM71	8	133764099	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	64758230	133764099	12599923	39	41488											
PAEP	5047	broad.mit.edu	37	chr9	138453690	138453690	+	Frame_Shift_Del	DEL	G	G	-																															tgggcgtggccctggtctgtGgtgtcccggccatggacatc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:138453690delG	ENST00000479141.1	+	1	87	c.43delG	c.(43-45)ggtfs	p.G15fs	PAEP_ENST00000277508.5_Frame_Shift_Del_p.G15fs|PAEP_ENST00000371766.2_Frame_Shift_Del_p.G15fs	NM_002571.2	NP_002562.2	P09466	PAEP_HUMAN	progestagen-associated endometrial protein	15					multicellular organismal development	extracellular region	binding|transporter activity			cervix(1)|endometrium(1)|lung(1)|prostate(1)|skin(1)|stomach(1)	6				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CCTGGTCTGTGGTGTCCCGGC	0.667													-	138453690	G	-	138453690	7	5	412	1	0	1	0	1	0	0	0	0	11458	1348	47	0	45	0	PAEP	9	138453690	Frame_Shift_Del	DEL	G	TCGA-DU-8168-01A-11D-2253-08		138453690	2759741	40	41489											
NOTCH1	4851	broad.mit.edu	37	chr9	139412252	139412254	+	In_Frame_Del	DEL	CGT	CGT	-																															aatctggtccaggcaggtggCgtcgttctggcacgggttcg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139412252_139412254delCGT	ENST00000277541.6	-	8	1466_1468	c.1391_1393delACG	c.(1390-1395)gacgcc>gcc	p.D464del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	464	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGCAGGTGGCGTCGTTCTGGCA	0.665			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139412254	CGT	-	139412252	7	5	412	1	0	1	0	1	0	0	0	0	10623	768	27	0	6382	0	NOTCH1	9	139412252	In_Frame_Del	DEL	CGT	TCGA-DU-8168-01A-11D-2253-08	958562	139412252	1801179	41	41490											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	412	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-8168-01A-11D-2253-08	818	139413070	1800361	42	41491											
NEBL	10529	broad.mit.edu	37	chr10	21097453	21097453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatacctccttcatcagacGgtcttgttacctcactgcag	8	13	7	13	1	4	2	3	1	1	1	5	2	5	2	3	1	3	2	3	1	2	4	rs143149169		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:21097453G>A	ENST00000377122.4	-	26	3143	c.2747C>T	c.(2746-2748)cCg>cTg	p.P916L	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	916	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTCATCAGACGGTCTTGTTAC	0.408													A	21097453	G	A	21097453	3	1	412	1	0	0	0	0	1	0	0	0	10379	1116	39	1	309	1	NEBL	10	21097453	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		21097453	114437294	43	41492											
POLR3A	11128	broad.mit.edu	37	chr10	79773462	79773462	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgtttgaggaagatgaagGttcatttcatcaccatcaaa	13	13	8	7	0	5	3	4	2	1	1	5	4	5	4	1	2	0	2	1	2	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:79773462G>T	ENST00000372371.3	-	11	1655	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	506					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			GAAGATGAAGGTTCATTTCAT	0.478													T	79773462	G	T	79773462	3	4	412	1	0	0	0	0	1	0	0	0	12305	1252	44	4	2738	4	POLR3A	10	79773462	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	58676009	79773462	55761285	44	41493											
FANK1	92565	broad.mit.edu	37	chr10	127668874	127668874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgattgaagaagaagAccccaaaatgcacacttatg	15	9	8	9	1	1	4	0	1	1	3	2	5	1	4	2	0	1	2	2	0	6	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:127668874A>G	ENST00000368695.1	+	2	262	c.140A>G	c.(139-141)gAc>gGc	p.D47G	FANK1_ENST00000449042.2_Missense_Mutation_p.D47G|FANK1_ENST00000368693.1_Missense_Mutation_p.D53G|FANK1_ENST00000368689.1_Missense_Mutation_p.D47G	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	53	Fibronectin type-III.					cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				GAAGAAGAAGACCCCAAAATG	0.428													G	127668874	A	G	127668874	3	3	412	1	0	0	0	0	1	0	0	0	5721	275	10	3	164	3	FANK1	10	127668874	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	47895412	127668874	7865873	45	41494											
TCERG1L	256536	broad.mit.edu	37	chr10	132944858	132944861	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															tcaggtccatgggcttctccCagacagacaggtgcatcgtt																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr10:132944858_132944861delCAGA	ENST00000368642.4	-	7	1182_1185	c.1097_1100delTCTG	c.(1096-1101)gtctggfs	p.VW366fs		NM_174937.3	NP_777597.2	Q5VWI1	TCRGL_HUMAN	transcription elongation regulator 1-like	366	WW 2.									cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	31		all_cancers(35;1.22e-10)|all_epithelial(44;2.65e-09)|Lung NSC(174;0.00188)|all_lung(145;0.00307)|Melanoma(40;0.0179)|all_neural(114;0.0424)|Breast(234;0.0743)|Colorectal(57;0.09)		all cancers(32;0.000899)|OV - Ovarian serous cystadenocarcinoma(35;0.0021)|Epithelial(32;0.00276)		GGGCTTCTCCCAGACAGACAGGTG	0.554													-	132944861	CAGA	-	132944858	7	5	412	1	0	1	0	1	0	0	0	0	15786	595	21	0	684	0	TCERG1L	10	132944858	Frame_Shift_Del	DEL	CAGA	TCGA-DU-8168-01A-11D-2253-08	5275984	132944858	2589889	46	41495											
TALDO1	6888	broad.mit.edu	37	chr11	755990	755990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcgattgcctatggccGgaagctgggcgggtgagtgc	6	7	20	8	3	0	1	0	1	0	0	0	4	0	3	2	6	3	1	2	6	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:755990G>A	ENST00000319006.3	+	2	362	c.209G>A	c.(208-210)cGg>cAg	p.R70Q	TALDO1_ENST00000528097.1_Missense_Mutation_p.R70Q			P37837	TALDO_HUMAN	transaldolase 1	70					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		GCCTATGGCCGGAAGCTGGGC	0.607													A	755990	G	A	755990	3	1	412	1	0	0	0	0	1	0	0	0	15640	1116	39	1	215	1	TALDO1	11	755990	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		755990	134250526	47	41496											
MUC2	4583	broad.mit.edu	37	chr11	1101611	1101611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtgtgcccgctgggattcGaagtgaagagcaagatggtg	9	8	16	8	3	0	3	0	1	0	2	1	5	0	4	2	2	2	2	2	2	3	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:1101611G>A	ENST00000441003.2	+	42	7651	c.7624G>A	c.(7624-7626)Gaa>Aaa	p.E2542K		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4904						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GCTGGGATTCGAAGTGAAGAG	0.642													A	1101611	G	A	1101611	3	1	412	1	0	0	0	0	1	0	0	0	10051	1059	37	1	7782	1	MUC2	11	1101611	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	345621	1101611	133904905	48	41497											
NLRP14	338323	broad.mit.edu	37	chr11	7081199	7081199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacacaacaagagcctgaCgcatctggatctaggatcaa	14	8	8	11	1	4	2	1	1	3	1	4	4	4	4	1	2	3	1	1	2	5	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:7081199C>T	ENST00000299481.4	+	9	3054	c.2708C>T	c.(2707-2709)aCg>aTg	p.T903M		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	903					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		AAGAGCCTGACGCATCTGGAT	0.453													T	7081199	C	T	7081199	3	4	412	1	0	0	0	0	1	0	0	0	10552	536	19	1	2738	1	NLRP14	11	7081199	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	5979588	7081199	127925317	49	41498											
SAA2	6289	broad.mit.edu	37	chr11	18269491	18269491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaagcctcgccaaggaacGaaaagaagcttcggctgctg	14	5	11	11	3	0	1	0	0	0	1	2	3	0	2	2	2	4	3	2	2	7	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:18269491G>A	ENST00000414546.2	-	2	112	c.68C>T	c.(67-69)tCg>tTg	p.S23L	SAA2-SAA4_ENST00000524555.1_RNA|SAA2_ENST00000526900.1_Missense_Mutation_p.S23L|SAA2_ENST00000256733.4_Missense_Mutation_p.S23L|SAA2_ENST00000528349.1_Missense_Mutation_p.S23L|SAA2_ENST00000530400.1_Missense_Mutation_p.S23L|SAA2_ENST00000529528.1_Missense_Mutation_p.S23L	NM_001127380.2	NP_001120852.1			serum amyloid A2											central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(1)	6						GCCAAGGAACGAAAAGAAGCT	0.498													A	18269491	G	A	18269491	3	1	412	1	0	0	0	0	1	0	0	0	13890	1059	37	1	338	1	SAA2	11	18269491	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	11188292	18269491	116737025	50	41499											
PTPRJ	5795	broad.mit.edu	37	chr11	48149530	48149530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgctccagcaccttctacaAcatcacagtgtgtcctgtcc	8	10	6	17	1	2	0	1	0	1	0	5	0	5	0	5	0	3	2	5	0	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:48149530A>G	ENST00000418331.2	+	7	1644	c.1292A>G	c.(1291-1293)aAc>aGc	p.N431S	PTPRJ_ENST00000440289.2_Missense_Mutation_p.N431S	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	431	Fibronectin type-III 4.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						ACCTTCTACAACATCACAGTG	0.577													G	48149530	A	G	48149530	3	3	412	1	0	0	0	0	1	0	0	0	12892	43	2	3	1318	3	PTPRJ	11	48149530	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	29880039	48149530	86856986	51	41500											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	412	1	0	1	0	1	0	0	0	0	3894	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-8168-01A-11D-2253-08	37225712	85375242	49631274	52	41501											
FAM90A1	55138	broad.mit.edu	37	chr12	8376782	8376782	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggtacttctggccgtgtgGccaaaggcctcacagttttt	6	13	11	11	1	2	0	1	0	1	0	2	0	2	0	3	4	1	2	3	4	2	4	rs77163560		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:8376782G>A	ENST00000538603.1	-	5	711	c.153C>T	c.(151-153)ggC>ggT	p.G51G	FAM90A1_ENST00000307435.6_Silent_p.G51G	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	51							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		TGGCCGTGTGGCCAAAGGCCT	0.537													A	8376782	G	A	8376782	2	1	412	1	0	0	0	0	0	0	0	1	5699	1190	42	2		2	FAM90A1	12	8376782	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		8376782	125475113	53	41502											
ITGB7	3695	broad.mit.edu	37	chr12	53586167	53586169	+	In_Frame_Del	DEL	AAG	AAG	-																															ctctggcgtcatcctccaccAagaagaagaacagctggttg																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:53586167_53586169delAAG	ENST00000267082.5	-	14	2331_2333	c.2100_2102delCTT	c.(2098-2103)ttcttg>ttg	p.F700del	ITGB7_ENST00000422257.3_In_Frame_Del_p.F700del|ITGB7_ENST00000550743.2_In_Frame_Del_p.F552del|ITGB7_ENST00000338737.4_In_Frame_Del_p.F552del	NM_000889.1	NP_000880.1	P26010	ITB7_HUMAN	integrin, beta 7	700					cell-matrix adhesion|integrin-mediated signaling pathway|multicellular organismal development|regulation of immune response	integrin complex	identical protein binding|metal ion binding|receptor activity			NS(2)|breast(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						ATCCTCCACCAAGAAGAAGAACA	0.567													-	53586169	AAG	-	53586167	7	5	412	1	0	1	0	1	0	0	0	0	7958	131	5	0	306	0	ITGB7	12	53586167	In_Frame_Del	DEL	AAG	TCGA-DU-8168-01A-11D-2253-08	45209385	53586167	80265728	54	41503											
ERBB3	2065	broad.mit.edu	37	chr12	56495375	56495377	+	In_Frame_Del	DEL	GAA	GAA	-																															tcagttctgtcctgggtactGaagaagaagatgaagatgag																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56495375_56495377delGAA	ENST00000267101.3	+	28	4005_4007	c.3565_3567delGAA	c.(3565-3567)gaadel	p.E1191del	ERBB3_ENST00000549832.1_In_Frame_Del_p.E311del|ERBB3_ENST00000415288.2_In_Frame_Del_p.E1132del|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000450146.2_In_Frame_Del_p.E548del|ERBB3_ENST00000553131.1_In_Frame_Del_p.E432del	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1191					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			CCTGGGTACTGAAGAAGAAGATG	0.522													-	56495377	GAA	-	56495375	7	5	412	1	0	1	0	1	0	0	0	0	5249	1291	45	0	3806	0	ERBB3	12	56495375	In_Frame_Del	DEL	GAA	TCGA-DU-8168-01A-11D-2253-08	2909208	56495375	77356520	55	41504											
TIMELESS	8914	broad.mit.edu	37	chr12	56827689	56827689	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctcatgcctcaaatagCggatcagatccttcacgctc	10	10	6	15	2	4	1	4	0	0	1	7	2	6	2	3	1	2	1	3	1	2	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:56827689C>G	ENST00000229201.4	-	3	273	c.119G>C	c.(118-120)cGc>cCc	p.R40P	TIMELESS_ENST00000554616.1_Missense_Mutation_p.R40P|TIMELESS_ENST00000553532.1_Missense_Mutation_p.R40P	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	40					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTCAAATAGCGGATCAGATC	0.542													G	56827689	C	G	56827689	3	3	412	1	0	0	0	0	1	0	0	0	16004	768	27	4	3615	4	TIMELESS	12	56827689	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	332314	56827689	77024206	56	41505											
ZBTB39	9880	broad.mit.edu	37	chr12	57398076	57398076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggtgtcatggtcttctGtctttggcggtggtgggggc	2	13	19	7	1	4	0	1	0	3	0	4	0	4	0	0	8	0	0	0	8	0	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:57398076G>A	ENST00000300101.2	-	2	711	c.626C>T	c.(625-627)aCa>aTa	p.T209I		NM_014830.2	NP_055645.1	O15060	ZBT39_HUMAN	zinc finger and BTB domain containing 39	209					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|liver(1)|lung(3)|prostate(1)	16						ATGGTCTTCTGTCTTTGGCGG	0.572													A	57398076	G	A	57398076	3	1	412	1	0	0	0	0	1	0	0	0	17641	1377	48	2	1516	2	ZBTB39	12	57398076	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	570387	57398076	76453819	57	41506											
MGAT4C	25834	broad.mit.edu	37	chr12	86373329	86373329	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttccagtatttactttaAttttttttattataattgga	10	23	4	4	0	0	0	0	0	0	0	1	1	1	1	1	1	1	2	1	1	6	13			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:86373329A>T	ENST00000604798.1	-	8	2379	c.1175T>A	c.(1174-1176)aTt>aAt	p.I392N	MGAT4C_ENST00000549405.2_Missense_Mutation_p.I392N|MGAT4C_ENST00000393205.2_Missense_Mutation_p.I421N|MGAT4C_ENST00000548651.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000332156.1_Missense_Mutation_p.I392N|MGAT4C_ENST00000552808.2_Missense_Mutation_p.I392N			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	392					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATTTACtttaattttttttat	0.353													T	86373329	A	T	86373329	3	4	412	1	0	0	0	0	1	0	0	0	9622	101	4	5	265	5	MGAT4C	12	86373329	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	28975253	86373329	47478566	58	41507											
TMEM132D	121256	broad.mit.edu	37	chr12	130185196	130185196	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggggaggtaggtgggcaGcaaggaaaacctctggatgc	11	5	17	8	1	1	0	0	0	1	0	1	3	1	3	1	7	3	3	1	7	4	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr12:130185196G>A	ENST00000422113.2	-	2	453	c.127C>T	c.(127-129)Ctg>Ttg	p.L43L		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	43						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TAGGTGGGCAGCAAGGAAAAC	0.557													A	130185196	G	A	130185196	2	1	412	1	0	0	0	0	0	0	0	1	16147	962	34	2		2	TMEM132D	12	130185196	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	43811867	130185196	3666699	59	41508											
UGGT2	55757	broad.mit.edu	37	chr13	96675958	96675958	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaggttgatgtgtaaattGtctagaaactgtccagcttt	13	14	9	5	0	1	2	0	1	1	1	2	2	2	2	1	1	2	3	1	1	6	5			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr13:96675958G>T	ENST00000376747.3	-	3	367	c.297C>A	c.(295-297)gaC>gaA	p.D99E	UGGT2_ENST00000397618.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376714.3_Missense_Mutation_p.D99E|UGGT2_ENST00000376712.4_Missense_Mutation_p.D99E	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	99					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TGTGTAAATTGTCTAGAAACT	0.318													T	96675958	G	T	96675958	3	4	412	1	0	0	0	0	1	0	0	0	17044	1368	48	4	4401	4	UGGT2	13	96675958	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		96675958	18493920	60	41509											
SERPINA12	145264	broad.mit.edu	37	chr14	94964687	94964687	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctttagaagacctttcacCgtgaggagaacagccagaaa	14	7	11	9	1	1	5	1	1	0	4	1	6	1	5	3	2	2	1	3	2	4	3	rs144330691		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr14:94964687C>A	ENST00000341228.2	-	3	843	c.48G>T	c.(46-48)acG>acT	p.T16T	SERPINA12_ENST00000556881.1_Silent_p.T16T	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	16					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GACCTTTCACCGTGAGGAGAA	0.468													A	94964687	C	A	94964687	2	1	412	1	0	0	0	0	0	0	0	1	14182	639	23	4		4	SERPINA12	14	94964687	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08		94964687	12384853	61	41510											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32929682	32929682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcaggtcctaaagaacAgaagtccatgtcatgtgaag	16	8	9	8	0	2	3	2	1	0	2	4	3	4	3	2	1	1	0	2	1	6	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:32929682A>G	ENST00000361627.3	+	12	3430	c.2708A>G	c.(2707-2709)cAg>cGg	p.Q903R	ARHGAP11A_ENST00000543522.1_Missense_Mutation_p.Q714R|ARHGAP11A_ENST00000565905.1_Missense_Mutation_p.Q714R	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A	903					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		CCTAAAGAACAGAAGTCCATG	0.398													G	32929682	A	G	32929682	3	3	412	1	0	0	0	0	1	0	0	0	866	188	7	3	2777	3	ARHGAP11A	15	32929682	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08		32929682	69601710	62	41511											
CLPX	10845	broad.mit.edu	37	chr15	65443196	65443198	+	In_Frame_Del	DEL	CTT	CTT	-																															atctgcttggcggggccatcCttcttcttcaactccagagt																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:65443196_65443198delCTT	ENST00000300107.3	-	14	2053_2055	c.1865_1867delAAG	c.(1864-1869)gaagga>gga	p.E622del		NM_006660.3	NP_006651.2	O76031	CLPX_HUMAN	caseinolytic mitochondrial matrix peptidase chaperone subunit	622					protein folding|proteolysis involved in cellular protein catabolic process	mitochondrial endopeptidase Clp complex|mitochondrial inner membrane|mitochondrial nucleoid	ATP binding|ATPase activity|metal ion binding|peptidase activator activity|unfolded protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	16						CGGGGCCATCCTTCTTCTTCAAC	0.384													-	65443198	CTT	-	65443196	7	5	412	1	0	1	0	1	0	0	0	0	3587	690	24	0	38	0	CLPX	15	65443196	In_Frame_Del	DEL	CTT	TCGA-DU-8168-01A-11D-2253-08	32513514	65443196	37088196	63	41512											
AKAP13	11214	broad.mit.edu	37	chr15	86262400	86262400	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatctgctttttgagcAgcagatggtagaaaagctgt	10	11	14	6	1	1	3	0	1	1	2	1	4	1	4	0	3	4	5	0	3	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr15:86262400A>C	ENST00000394518.2	+	23	6190	c.6095A>C	c.(6094-6096)cAg>cCg	p.Q2032P	AKAP13_ENST00000394510.2_Missense_Mutation_p.Q277P|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.Q2036P	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2032	DH.|Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTTTTGAGCAGCAGATGGTA	0.483													C	86262400	A	C	86262400	3	2	412	1	0	0	0	0	1	0	0	0	449	188	7	5	6251	5	AKAP13	15	86262400	Missense_Mutation	SNP	A	TCGA-DU-8168-01A-11D-2253-08	20819204	86262400	16268992	64	41513											
RPUSD1	113000	broad.mit.edu	37	chr16	837405	837405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgaagcacctgtacgcGctgccggcggctgccttgtt	4	11	12	14	4	0	1	0	1	0	0	1	1	1	1	4	2	4	5	4	2	2	4			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:837405G>A	ENST00000561734.1	-	2	498	c.255C>T	c.(253-255)agC>agT	p.S85S	RPUSD1_ENST00000565809.1_Silent_p.S85S|RPUSD1_ENST00000567114.1_5'UTR|RPUSD1_ENST00000007264.2_Silent_p.S85S			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	85					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				ACCTGTACGCGCTGCCGGCGG	0.632													A	837405	G	A	837405	2	1	412	1	0	0	0	0	0	0	0	1	13757	1078	38	1		1	RPUSD1	16	837405	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		837405	89517348	65	41514											
MAPK8IP3	23162	broad.mit.edu	37	chr16	1797211	1797211	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagaacagcaagcgtgcccGggagaagcgcgacagccgca	13	1	14	13	5	0	2	0	0	0	2	0	4	0	2	2	1	6	2	2	1	4	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:1797211G>T	ENST00000250894.4	+	6	1083	c.926G>T	c.(925-927)cGg>cTg	p.R309L	MAPK8IP3_ENST00000356010.5_Missense_Mutation_p.R309L|MAPK8IP3_ENST00000568271.1_3'UTR	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	309					vesicle-mediated transport	Golgi membrane	kinesin binding|MAP-kinase scaffold activity|protein kinase binding			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						AAGCGTGCCCGGGAGAAGCGC	0.662													T	1797211	G	T	1797211	3	4	412	1	0	0	0	0	1	0	0	0	9361	1116	39	4	948	4	MAPK8IP3	16	1797211	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	959806	1797211	88557542	66	41515											
C16orf86	388284	broad.mit.edu	37	chr16	67701892	67701892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagagtgagccctcaccAtctgccaaacagcacaaaaa	16	4	7	14	0	2	2	1	1	1	1	2	2	2	2	4	0	5	1	4	0	3	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:67701892A>G	ENST00000403458.4	+	3	599	c.444A>G	c.(442-444)ccA>ccG	p.P148P	C16orf86_ENST00000602974.1_3'UTR	NM_001012984.2	NP_001013002.2	Q6ZW13	CP086_HUMAN	chromosome 16 open reading frame 86	148										endometrium(2)|lung(4)	6		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		AGCCCTCACCATCTGCCAAAC	0.607											OREG0023886	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	67701892	A	G	67701892	2	3	412	1	0	0	0	0	0	0	0	1	1853	204	8	3		3	C16orf86	16	67701892	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08	65904681	67701892	22652861	67	41516											
DPEP2	64174	broad.mit.edu	37	chr16	68026419	68026419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccctgtggtacctgggcGcccacgaggccatctctaag	7	9	11	14	2	1	0	0	0	1	0	3	1	2	0	4	3	1	1	4	3	3	3	rs151283462		TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr16:68026419G>A	ENST00000412757.2	-	4	1049	c.384C>T	c.(382-384)ggC>ggT	p.G128G	DPEP2_ENST00000572888.1_Silent_p.G128G|DPEP2_ENST00000393847.1_Silent_p.G128G			Q9H4A9	DPEP2_HUMAN	dipeptidase 2	128					hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|proteolysis	anchored to membrane|plasma membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0119)|Epithelial(162;0.0489)|all cancers(182;0.239)		GTACCTGGGCGCCCACGAGGC	0.567													A	68026419	G	A	68026419	2	1	412	1	0	0	0	0	0	0	0	1	4753	1074	38	1		1	DPEP2	16	68026419	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	324527	68026419	22328334	68	41517											
LIG3	3980	broad.mit.edu	37	chr17	33328319	33328319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggggctgaattctccaaatCggaggctcatacagctgacg	11	8	12	10	2	2	2	1	2	1	0	4	3	2	3	1	4	2	3	1	4	3	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33328319C>T	ENST00000378526.4	+	17	2508	c.2375C>T	c.(2374-2376)tCg>tTg	p.S792L	LIG3_ENST00000262327.5_Missense_Mutation_p.S792L	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	792					base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding			endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	TTCTCCAAATCGGAGGCTCAT	0.532								Other BER factors					T	33328319	C	T	33328319	3	4	412	1	0	0	0	0	1	0	0	0	8842	893	31	1	2437	1	LIG3	17	33328319	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08		33328319	47866891	69	41518											
UNC45B	146862	broad.mit.edu	37	chr17	33495136	33495136	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatgccatccagacagtgtCagggatcctgcagggcccct	9	7	12	13	0	1	1	1	0	0	1	3	3	3	2	5	2	2	1	5	2	1	0			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:33495136C>T	ENST00000268876.5	+	10	1305	c.1208C>T	c.(1207-1209)tCa>tTa	p.S403L	UNC45B_ENST00000394570.2_Missense_Mutation_p.S403L|UNC45B_ENST00000433649.1_Missense_Mutation_p.S403L|UNC45B_ENST00000591048.1_Missense_Mutation_p.S403L|UNC45B_ENST00000378449.1_Missense_Mutation_p.S403L	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	403					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAGACAGTGTCAGGGATCCTG	0.547													T	33495136	C	T	33495136	3	4	412	1	0	0	0	0	1	0	0	0	17091	838	29	2	1242	2	UNC45B	17	33495136	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	166817	33495136	47700074	70	41519											
SEC14L1	6397	broad.mit.edu	37	chr17	75208130	75208130	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatcactccaagaggtcGccacaaccacccaaaaagga	16	5	6	14	1	2	1	1	0	1	1	4	2	3	2	4	2	1	0	4	2	5	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:75208130G>A	ENST00000413679.2	+	15	2013	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	SEC14L1_ENST00000392476.2_Silent_p.S570S|SEC14L1_ENST00000430767.4_Silent_p.S570S|SEC14L1_ENST00000436233.4_Silent_p.S570S|SEC14L1_ENST00000443798.4_Silent_p.S570S|SEC14L1_ENST00000591437.1_Silent_p.S536S|SEC14L1_ENST00000585618.1_Silent_p.S570S|SEC14L1_ENST00000431431.2_Silent_p.S536S	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)	570	GOLD.				transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCAAGAGGTCGCCACAACCAC	0.527													A	75208130	G	A	75208130	2	1	412	1	0	0	0	0	0	0	0	1	14074	1074	38	1		1	SEC14L1	17	75208130	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	41712994	75208130	5987080	71	41520											
TNRC6C	57690	broad.mit.edu	37	chr17	76094488	76094488	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccacacgcaagcctctctGtctcatgaactatggaaggt	10	10	8	13	1	2	1	1	1	2	0	5	2	3	2	2	2	2	1	2	2	4	1	rs145461604	by1000genomes	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr17:76094488G>T	ENST00000335749.4	+	18	5048	c.4479G>T	c.(4477-4479)ctG>ctT	p.L1493L	TNRC6C_ENST00000588061.1_Silent_p.L1457L|TNRC6C_ENST00000588847.1_Silent_p.L1493L|TNRC6C_ENST00000301624.4_Silent_p.L1457L|TNRC6C_ENST00000544502.1_Silent_p.L1493L|TNRC6C_ENST00000541771.1_Silent_p.L1457L	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	1457	Sufficient for translational repression when tethered to a target mRNA.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGCCTCTCTGTCTCATGAAC	0.557													T	76094488	G	T	76094488	2	4	412	1	0	0	0	0	0	0	0	1	16442	1364	48	4		4	TNRC6C	17	76094488	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	886358	76094488	5100722	72	41521											
DSG1	1828	broad.mit.edu	37	chr18	28934739	28934739	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgataaccgaccagcatcAaacgtggtagtgacagagag	15	5	11	10	3	1	2	1	1	0	1	1	5	1	2	2	1	3	2	2	1	3	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:28934739A>G	ENST00000257192.4	+	15	2792	c.2580A>G	c.(2578-2580)tcA>tcG	p.S860S	RP11-534N16.1_ENST00000581452.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA|DSG1_ENST00000462981.2_Silent_p.S219S	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	860					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			GACCAGCATCAAACGTGGTAG	0.512													G	28934739	A	G	28934739	2	3	412	1	0	0	0	0	0	0	0	1	4815	117	5	3		3	DSG1	18	28934739	Silent	SNP	A	TCGA-DU-8168-01A-11D-2253-08		28934739	49142509	73	41522											
SERPINB2	5055	broad.mit.edu	37	chr18	61570518	61570518	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaactgcattttatttttCggcagattttcctcacccta	9	16	4	12	1	1	1	1	0	0	1	3	1	2	1	3	1	2	2	3	1	3	7			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr18:61570518C>T	ENST00000457692.1	+	9	1560	c.1227C>T	c.(1225-1227)ttC>ttT	p.F409F	SERPINB2_ENST00000299502.4_Silent_p.F409F	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	409					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	TTTTATTTTTCGGCAGATTTT	0.388													T	61570518	C	T	61570518	2	4	412	1	0	0	0	0	0	0	0	1	14194	883	31	1		1	SERPINB2	18	61570518	Silent	SNP	C	TCGA-DU-8168-01A-11D-2253-08	32635779	61570518	16506730	74	41523											
KDM4B	23030	broad.mit.edu	37	chr19	5131427	5131427	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgccagcaggcctttgaGcactttgcccagaagggtcc	7	9	11	14	0	0	2	0	1	0	1	2	2	2	2	5	2	4	2	5	2	1	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:5131427G>A	ENST00000159111.4	+	12	1874	c.1656G>A	c.(1654-1656)gaG>gaA	p.E552E	KDM4B_ENST00000536461.1_Silent_p.E586E	NM_015015.2	NP_055830	O94953	KDM4B_HUMAN	lysine (K)-specific demethylase 4B	552					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(1)|liver(1)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGCCTTTGAGCACTTTGCCC	0.657													A	5131427	G	A	5131427	2	1	412	1	0	0	0	0	0	0	0	1	8187	962	34	2		2	KDM4B	19	5131427	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08		5131427	53997556	75	41524											
MUC16	94025	broad.mit.edu	37	chr19	9058837	9058837	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttggctctgagaagcctgGggaagaggaatagagttcct	10	10	15	6	0	1	3	0	1	1	3	2	6	2	5	2	4	1	3	2	4	4	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:9058837G>T	ENST00000397910.4	-	3	28812	c.28609C>A	c.(28609-28611)Cca>Aca	p.P9537T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9539	Ser-rich.|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						GAGAAGCCTGGGGAAGAGGAA	0.483													T	9058837	G	T	9058837	3	4	412	1	0	0	0	0	1	0	0	0	10049	1232	43	4	15242	4	MUC16	19	9058837	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	3927410	9058837	50070146	76	41525											
ZNF442	79973	broad.mit.edu	37	chr19	12461542	12461542	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtttttctccagtgtgaGttctttcatgtcttacatag	7	18	9	7	0	4	1	1	1	3	0	5	1	4	1	1	1	1	2	1	1	2	6			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:12461542G>T	ENST00000242804.4	-	6	1439	c.857C>A	c.(856-858)aCt>aAt	p.T286N	ZNF442_ENST00000438182.1_Missense_Mutation_p.T217N	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCAGTGTGAGTTCTTTCATG	0.413													T	12461542	G	T	12461542	3	4	412	1	0	0	0	0	1	0	0	0	18016	1029	36	4	1030	4	ZNF442	19	12461542	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	3402705	12461542	46667441	77	41526											
ZNF208	7757	broad.mit.edu	37	chr19	22155320	22155320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaacttactaaaggctttgCcacattctttacatttgtag	12	15	6	8	0	1	1	0	0	1	1	1	1	1	1	1	1	4	2	1	1	6	8			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:22155320C>T	ENST00000397126.4	-	4	2664	c.2516G>A	c.(2515-2517)gGc>gAc	p.G839D	ZNF208_ENST00000601773.1_Intron|ZNF208_ENST00000599916.1_Intron	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				AAAGGCTTTGCCACATTCTTT	0.373													T	22155320	C	T	22155320	3	4	412	1	0	0	0	0	1	0	0	0	17867	739	26	2	1330	2	ZNF208	19	22155320	Missense_Mutation	SNP	C	TCGA-DU-8168-01A-11D-2253-08	9693778	22155320	36973663	78	41527											
CIC	23152	broad.mit.edu	37	chr19	42795593	42795594	+	Frame_Shift_Del	DEL	TG	TG	-																															ggcatccccatcctgcagtcTgtaccctccgccccaccccc																										TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr19:42795593_42795594delTG	ENST00000572681.2	+	11	5468_5469	c.5400_5401delTG	c.(5398-5403)tctgtafs	p.V1801fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V892fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V892fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	892					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCAGTCTGTACCCTCCGC	0.624			"Mis, F, S"		oligodendroglioma								-	42795594	TG	-	42795593	7	5	412	1	0	1	0	1	0	0	0	0	3454	1567	55	0	2711	0	CIC	19	42795593	Frame_Shift_Del	DEL	TG	TCGA-DU-8168-01A-11D-2253-08	20640273	42795593	16333390	79	41528											
SLC2A10	81031	broad.mit.edu	37	chr20	45354099	45354099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtccctctatgaggcaGgcatcaccgtgggcatcctg	6	10	13	12	1	2	1	1	1	1	0	4	1	4	1	3	4	0	3	3	4	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr20:45354099G>A	ENST00000359271.2	+	2	674	c.424G>A	c.(424-426)Ggc>Agc	p.G142S		NM_030777.3	NP_110404.1	O95528	GTR10_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 10	142			G -> V (in ATS).			endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity|sugar:hydrogen symporter activity			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	34		Myeloproliferative disorder(115;0.0122)				CTATGAGGCAGGCATCACCGT	0.622													A	45354099	G	A	45354099	3	1	412	1	0	0	0	0	1	0	0	0	14633	1000	35	2	430	2	SLC2A10	20	45354099	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		45354099	17671421	80	41529											
TAB1	10454	broad.mit.edu	37	chr22	39824142	39824142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggccagatggtcaacgggGctcacagtgcttccaccctg	8	7	13	13	1	2	1	2	0	0	1	3	1	3	1	3	4	2	2	3	4	1	1			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chr22:39824142G>A	ENST00000216160.6	+	10	1323	c.1261G>A	c.(1261-1263)Gct>Act	p.A421T	TAB1_ENST00000331454.3_Missense_Mutation_p.A421T	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	421					activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						GGTCAACGGGGCTCACAGTGC	0.642													A	39824142	G	A	39824142	3	1	412	1	0	0	0	0	1	0	0	0	15592	1203	42	2	1299	2	TAB1	22	39824142	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		39824142	11480424	81	41530											
CSF2RA	1438	broad.mit.edu	37	chrX	1409322	1409322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcaggattaacgtctcGcaattactttctggttaacg	9	14	8	10	3	3	0	1	0	2	0	4	1	3	1	1	2	3	2	1	2	4	4	rs147180621	byFrequency	TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:1409322G>A	ENST00000381524.3	+	7	752	c.566G>A	c.(565-567)cGc>cAc	p.R189H	CSF2RA_ENST00000501036.2_Missense_Mutation_p.R56H|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R189H|CSF2RA_ENST00000355805.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000361536.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R189H|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R189H|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R189H			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	189						extracellular region|integral to plasma membrane	cytokine receptor activity	p.R189H(2)		central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTAACGTCTCGCAATTACTTT	0.423													A	1409322	G	A	1409322	3	1	412	1	0	0	0	0	1	0	0	0	3967	1087	38	1	584	1	CSF2RA	23	1409322	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08		1409322	153861238	82	41531											
ATXN3L	92552	broad.mit.edu	37	chrX	13337542	13337542	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttggtcagcttcacagTctggcagatcacccttgaca	9	10	11	11	0	4	2	3	1	1	1	4	3	4	3	1	3	1	3	1	3	0	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:13337542T>C	ENST00000380622.2	-	1	976	c.512A>G	c.(511-513)gAc>gGc	p.D171G	GS1-600G8.3_ENST00000431486.1_RNA	NM_001135995.1	NP_001129467.1	Q9H3M9	ATX3L_HUMAN	ataxin 3-like	171	Josephin.				protein deubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						AGCTTCACAGTCTGGCAGATC	0.393													C	13337542	T	C	13337542	3	2	412	1	0	0	0	0	1	0	0	0	1219	1667	58	3	559	3	ATXN3L	23	13337542	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	11928220	13337542	141933018	83	41532											
CASK	8573	broad.mit.edu	37	chrX	41393959	41393959	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattgagacattgcttacGtggaatagggtacgcaaacc	13	9	12	7	2	0	2	0	1	0	2	0	5	0	3	1	2	4	3	1	2	5	5			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:41393959G>T	ENST00000318588.9	-	24	2347	c.2302C>A	c.(2302-2304)Cat>Aat	p.H768N	CASK_ENST00000378158.1_Splice_Site_p.H756N|CASK_ENST00000442742.2_Splice_Site_p.H745N|CASK_ENST00000378163.1_Splice_Site_p.H773N|CASK_ENST00000378166.4_Splice_Site_p.H768N|CASK_ENST00000421587.2_Splice_Site_p.H744N|CASK_ENST00000361962.4_Splice_Site_p.H756N			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	773	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						CATTGCTTACGTGGAATAGGG	0.338													T	41393959	G	T	41393959	5	4	412	1	0	0	0	0	0	0	1	0	2691	1159	40	4	479	4	CASK	23	41393959	Splice_Site	SNP	G	TCGA-DU-8168-01A-11D-2253-08	28056417	41393959	113876601	84	41533											
CCNB3	85417	broad.mit.edu	37	chrX	50051784	50051784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagagtgacagtgatgatgcGtttgttatagagccaatgac	12	11	13	5	1	0	6	0	4	0	2	0	7	0	6	1	0	2	2	1	0	3	3			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:50051784G>A	ENST00000376042.1	+	6	913	c.615G>A	c.(613-615)gcG>gcA	p.A205A	CCNB3_ENST00000276014.7_Silent_p.A205A|CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	205					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATGATGCGTTTGTTATAG	0.408													A	50051784	G	A	50051784	2	1	412	1	0	0	0	0	0	0	0	1	2944	1132	40	1		1	CCNB3	23	50051784	Silent	SNP	G	TCGA-DU-8168-01A-11D-2253-08	8657825	50051784	105218776	85	41534											
MAGEE1	57692	broad.mit.edu	37	chrX	75649858	75649858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcagagcaagtaccctaTccgggagtctgaaatgcggg	11	7	14	9	2	2	2	1	1	1	1	3	4	3	4	2	3	3	2	2	3	4	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:75649858T>C	ENST00000361470.2	+	1	1813	c.1535T>C	c.(1534-1536)aTc>aCc	p.I512T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	512	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						AAGTACCCTATCCGGGAGTCT	0.502													C	75649858	T	C	75649858	3	2	412	1	0	0	0	0	1	0	0	0	9260	1435	50	3	1537	3	MAGEE1	23	75649858	Missense_Mutation	SNP	T	TCGA-DU-8168-01A-11D-2253-08	25598074	75649858	79620702	86	41535											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	10	9	12	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-DU-8168-01A-11D-2253-08	TCGA-DU-8168-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a6fa4e0-950d-443a-9b46-1c06afd74a00	f43e15d0-53eb-4076-81f8-e5c44e43b9d9	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													A	117959418	G	A	117959418	3	1	412	1	0	0	0	0	1	0	0	0	17682	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-DU-8168-01A-11D-2253-08	42309560	117959418	37311142	87	41536											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	413	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		209113112	34086261	1	41537											
OXSM	54995	broad.mit.edu	37	chr3	25833094	25833094	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcaggccaggtcagcattCgatataaactcaagggccca	13	6	10	12	1	2	0	2	0	0	0	3	1	2	0	2	3	3	2	2	3	4	3	rs147184138		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr3:25833094C>T	ENST00000280701.3	+	2	682	c.583C>T	c.(583-585)Cga>Tga	p.R195*	OXSM_ENST00000420173.2_Nonsense_Mutation_p.R195*|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	195					acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						GGTCAGCATTCGATATAAACT	0.433													T	25833094	C	T	25833094	4	4	413	1	0	0	0	0	0	1	0	0	11411	876	31	1	585	1	OXSM	3	25833094	Nonsense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		25833094	172189336	2	41538											
DRD5	1816	broad.mit.edu	37	chr4	9784116	9784116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaagcgcaagatgactcagCgcatggccttggtcatggtc	10	8	12	11	2	2	2	2	1	0	1	3	2	2	2	1	3	2	2	1	3	2	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:9784116C>T	ENST00000304374.2	+	1	859	c.463C>T	c.(463-465)Cgc>Tgc	p.R155C		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	155					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	GATGACTCAGCGCATGGCCTT	0.607													T	9784116	C	T	9784116	3	4	413	1	0	0	0	0	1	0	0	0	4799	768	27	1	465	1	DRD5	4	9784116	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		9784116	181370160	3	41539											
FGG	2266	broad.mit.edu	37	chr4	155530846	155530846	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtagactaagaattgctggTtagctttcagaggtttaata	13	14	10	4	0	1	3	1	0	0	3	1	3	1	3	0	2	2	5	0	2	6	8			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr4:155530846T>A	ENST00000404648.3	-	6	841	c.602A>T	c.(601-603)aAc>aTc	p.N201I	FGG_ENST00000407946.1_Missense_Mutation_p.N209I|FGG_ENST00000336098.3_Missense_Mutation_p.N201I|FGG_ENST00000405164.1_Missense_Mutation_p.N209I	NM_000509.4	NP_000500.2	P02679	FIBG_HUMAN	fibrinogen gamma chain	201	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	GAATTGCTGGTTAGCTTTCAG	0.388													A	155530846	T	A	155530846	3	1	413	1	0	0	0	0	1	0	0	0	5919	1725	60	5	794	5	FGG	4	155530846	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	145746730	155530846	35623430	4	41540											
UGT3A1	133688	broad.mit.edu	37	chr5	35954579	35954579	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccaccactgccgacttgtAcctgttggcggagacagaga	9	8	12	12	2	0	2	0	0	0	2	0	5	0	2	4	2	3	2	4	2	1	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:35954579A>G	ENST00000274278.3	-	7	1654	c.1297T>C	c.(1297-1299)Tac>Cac	p.Y433H		NM_152404.3	NP_689617.3	Q6NUS8	UD3A1_HUMAN	UDP glycosyltransferase 3 family, polypeptide A1	433						integral to membrane	glucuronosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|skin(4)	46	all_lung(31;0.000197)		Epithelial(62;0.107)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GCCGACTTGTACCTGTTGGCG	0.552													G	35954579	A	G	35954579	5	3	413	1	0	0	0	0	0	0	1	0	17065	405	14	3	278	3	UGT3A1	5	35954579	Splice_Site	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		35954579	144960681	5	41541											
GABRB2	2561	broad.mit.edu	37	chr5	160758095	160758095	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagggagagtttcccggaggTgggtgttgattgtggtcatt	6	14	17	4	1	1	2	1	1	0	1	2	4	2	3	1	5	0	2	1	5	1	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr5:160758095T>C	ENST00000274547.2	-	9	1089	c.872A>G	c.(871-873)cAc>cGc	p.H291R	GABRB2_ENST00000517901.1_Missense_Mutation_p.H228R|GABRB2_ENST00000517547.1_Missense_Mutation_p.H131R|GABRB2_ENST00000393959.1_Missense_Mutation_p.H291R|GABRB2_ENST00000520240.1_Missense_Mutation_p.H291R|GABRB2_ENST00000353437.6_Missense_Mutation_p.H291R	NM_000813.2|NM_021911.2	NP_000804.1|NP_068711.1	P47870	GBRB2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 2	291					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|GABA-A receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(9)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	26	Renal(175;0.00259)	Medulloblastoma(196;0.021)|all_neural(177;0.0463)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	TTCCCGGAGGTGGGTGTTGAT	0.423													C	160758095	T	C	160758095	3	2	413	1	0	0	0	0	1	0	0	0	6219	1696	59	3	678	3	GABRB2	5	160758095	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	124803516	160758095	20157165	6	41542											
EIF3B	8662	broad.mit.edu	37	chr7	2394836	2394836	+	Frame_Shift_Del	DEL	G	G	-																															cggccgccgaggagctgcccGggtcgcatgctgagccccct																										TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:2394836delG	ENST00000360876.4	+	1	336	c.280delG	c.(280-282)gggfs	p.G94fs	EIF3B_ENST00000397011.2_Frame_Shift_Del_p.G94fs	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	94					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GGAGCTGCCCGGGTCGCATGC	0.786													-	2394836	G	-	2394836	7	5	413	1	0	1	0	1	0	0	0	0	5052	1116	39	0	282	0	EIF3B	7	2394836	Frame_Shift_Del	DEL	G	TCGA-DU-A5TP-01A-11D-A289-08		2394836	156743827	7	41543											
GNAI1	2770	broad.mit.edu	37	chr7	79818476	79818476	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtctacagtaacaccAtccagtcaattattgctatc	12	12	6	11	0	2	0	1	0	1	0	4	0	3	0	2	1	3	2	2	1	5	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:79818476A>G	ENST00000351004.3	+	3	605	c.232A>G	c.(232-234)Atc>Gtc	p.I78V	GNAI1_ENST00000457358.2_Missense_Mutation_p.I26V|GNAI1_ENST00000490206.1_3'UTR	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	78					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						CAGTAACACCATCCAGTCAAT	0.398													G	79818476	A	G	79818476	3	3	413	1	0	0	0	0	1	0	0	0	6560	217	8	3	242	3	GNAI1	7	79818476	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	77423640	79818476	79320187	8	41544											
PON1	5444	broad.mit.edu	37	chr7	94940783	94940783	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggcagaagtttatgtctGatggtttttagatgcaaaag	12	15	11	3	0	1	3	0	1	1	2	1	3	1	3	0	2	1	4	0	2	6	6			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:94940783G>T	ENST00000222381.3	-	5	708	c.477C>A	c.(475-477)atC>atA	p.I159I	PON1_ENST00000542556.1_Silent_p.I159I	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	159					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	GTTTATGTCTGATGGTTTTTA	0.383													T	94940783	G	T	94940783	2	4	413	1	0	0	0	0	0	0	0	1	12325	1280	45	4		4	PON1	7	94940783	Silent	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	15122307	94940783	64197880	9	41545											
CBLL1	79872	broad.mit.edu	37	chr7	107398758	107398758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacccgtgcttcacttgaaaAtgttcatcctcctattgccc	8	14	5	14	1	2	1	2	1	0	0	4	1	4	1	4	0	3	2	4	0	4	6			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:107398758A>G	ENST00000440859.3	+	6	1078	c.611A>G	c.(610-612)aAt>aGt	p.N204S	CBLL1_ENST00000415884.2_3'UTR|CBLL1_ENST00000222597.2_Missense_Mutation_p.N203S	NM_001284291.1|NM_024814.2	NP_001271220.1|NP_079090.2	Q75N03	HAKAI_HUMAN	Cbl proto-oncogene-like 1, E3 ubiquitin protein ligase						cell-cell adhesion|negative regulation of cell adhesion|positive regulation of cell migration|positive regulation of endocytosis		protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(3)	21						TCACTTGAAAATGTTCATCCT	0.468													G	107398758	A	G	107398758	3	3	413	1	0	0	0	0	1	0	0	0	2729	101	4	3	633	3	CBLL1	7	107398758	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	12457975	107398758	51739905	10	41546											
PLXNA4	91584	broad.mit.edu	37	chr7	131848943	131848943	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcggatgagcttgtcctcGctcaaggagtagcgggcctc	6	9	15	11	3	1	1	1	1	0	0	4	3	2	3	2	4	2	3	2	4	2	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:131848943G>A	ENST00000359827.3	-	24	5420	c.4458C>T	c.(4456-4458)agC>agT	p.S1486S	PLXNA4_ENST00000321063.4_Silent_p.S1486S			Q9HCM2	PLXA4_HUMAN	plexin A4	1486						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						GCTTGTCCTCGCTCAAGGAGT	0.607													A	131848943	G	A	131848943	2	1	413	1	0	0	0	0	0	0	0	1	12199	1078	38	1		1	PLXNA4	7	131848943	Silent	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	24450185	131848943	27289720	11	41547											
CNOT4	4850	broad.mit.edu	37	chr7	135048807	135048807	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatttaaactctctacagAactgctgttgtctgggagat	11	14	8	8	0	2	2	0	0	2	2	3	3	2	2	0	1	4	2	0	1	5	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:135048807A>G	ENST00000541284.1	-	11	1969	c.1639T>C	c.(1639-1641)Tct>Cct	p.S547P	CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.S544P	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	227					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CTCTCTACAGAACTGCTGTTG	0.388													G	135048807	A	G	135048807	3	3	413	1	0	0	0	0	1	0	0	0	3652	261	9	3		3	CNOT4	7	135048807	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08	3199864	135048807	24089856	12	41548											
TAS2R41	259287	broad.mit.edu	37	chr7	143175080	143175080	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagggagtggctgcgatatGgcaggttgctgcccttggat	6	10	17	8	1	0	0	0	0	0	0	0	3	0	2	1	5	3	5	1	5	1	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr7:143175080G>T	ENST00000408916.1	+	1	115	c.115G>T	c.(115-117)Ggc>Tgc	p.G39C	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	39					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					GCTGCGATATGGCAGGTTGCT	0.562													T	143175080	G	T	143175080	3	4	413	1	0	0	0	0	1	0	0	0	15676	1348	47	4	117	4	TAS2R41	7	143175080	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	8126273	143175080	15963583	13	41549											
TAF2	6873	broad.mit.edu	37	chr8	120768315	120768315	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggagactccatgttcttagTaaatggtgggttcttagtca	9	14	12	6	0	3	1	1	0	2	1	4	2	4	1	1	3	0	3	1	3	4	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr8:120768315T>G	ENST00000378164.2	-	22	3107	c.2809A>C	c.(2809-2811)Act>Cct	p.T937P	TAF2_ENST00000519355.1_5'UTR	NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	937					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			ATGTTCTTAGTAAATGGTGGG	0.348													G	120768315	T	G	120768315	3	3	413	1	0	0	0	0	1	0	0	0	15621	1638	57	5	810	5	TAF2	8	120768315	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08		120768315	25595707	14	41550											
TNC	3371	broad.mit.edu	37	chr9	117826102	117826102	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacttcaacagagagaggggTtgtgctgaagtcctgagtga	11	9	15	6	0	1	5	1	3	0	2	2	7	2	5	1	2	2	2	1	2	2	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr9:117826102T>A	ENST00000350763.4	-	12	4144	c.3733A>T	c.(3733-3735)Acc>Tcc	p.T1245S	TNC_ENST00000535648.1_Intron|TNC_ENST00000340094.3_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000341037.4_Missense_Mutation_p.T1245S|TNC_ENST00000346706.3_Intron|TNC_ENST00000345230.3_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.T1245S	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1245	Fibronectin type-III 7.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GAGAGAGGGGTTGTGCTGAAG	0.522													A	117826102	T	A	117826102	3	1	413	1	0	0	0	0	1	0	0	0	16370	1725	60	5	2940	5	TNC	9	117826102	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08		117826102	23387329	15	41551											
MPP7	143098	broad.mit.edu	37	chr10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcttttctactaagaCgaaaactttttctaaaacca	14	16	2	9	1	4	1	0	0	4	1	4	2	4	1	1	0	3	0	1	0	7	8	rs145943944	byFrequency	TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr10:28378749C>T	ENST00000337532.5	-	13	1250	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000445954.2_Missense_Mutation_p.R200H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313													T	28378749	C	T	28378749	3	4	413	1	0	0	0	0	1	0	0	0	9815	536	19	1	780	1	MPP7	10	28378749	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		28378749	107155998	16	41552											
PA2G4	5036	broad.mit.edu	37	chr12	56504345	56504345	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaaattactctttcaggcCaaggatgcaggacagagaac	14	9	9	9	0	2	1	1	0	1	1	2	4	2	3	1	3	3	1	1	3	5	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:56504345C>T	ENST00000303305.6	+	9	1130	c.711C>T	c.(709-711)gcC>gcT	p.A237A	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Silent_p.A237A	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	237					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			TCTTTCAGGCCAAGGATGCAG	0.463													T	56504345	C	T	56504345	2	4	413	1	0	0	0	0	0	0	0	1	11437	581	21	2		2	PA2G4	12	56504345	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		56504345	77347550	17	41553											
BTBD11	121551	broad.mit.edu	37	chr12	108012060	108012060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccccccttgtgcgccagccGcaacagcaaggccaaactga	10	4	10	17	2	0	1	0	1	0	0	0	1	0	1	6	1	5	2	6	1	3	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr12:108012060G>A	ENST00000280758.5	+	10	2885	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	BTBD11_ENST00000420571.2_Intron|BTBD11_ENST00000490090.2_Missense_Mutation_p.R786H|BTBD11_ENST00000357167.4_Missense_Mutation_p.R323H	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	786						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						TGCGCCAGCCGCAACAGCAAG	0.597													A	108012060	G	A	108012060	3	1	413	1	0	0	0	0	1	0	0	0	1548	1087	38	1	2500	1	BTBD11	12	108012060	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	51507715	108012060	25839835	18	41554											
MDGA2	161357	broad.mit.edu	37	chr14	47389358	47389358	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atagaattctggagcataggCctttcctgaaaacagaaagt	15	10	9	7	0	1	3	0	1	1	2	2	4	2	4	2	2	2	1	2	2	6	4			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:47389358C>A	ENST00000426342.1	-	10	1947	c.1201G>T	c.(1201-1203)Gcc>Tcc	p.A401S	MDGA2_ENST00000439988.3_Missense_Mutation_p.A699S|MDGA2_ENST00000399232.2_Missense_Mutation_p.A630S|MDGA2_ENST00000357362.3_Missense_Mutation_p.A401S	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	630	Ig-like 4.				spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						GGAGCATAGGCCTTTCCTGAA	0.368													A	47389358	C	A	47389358	3	1	413	1	0	0	0	0	1	0	0	0	9482	739	26	4	1014	4	MDGA2	14	47389358	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		47389358	59960182	19	41555											
EVL	51466	broad.mit.edu	37	chr14	100551166	100551166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaacaccttcagagtcGttggagtcaagttgcaggat	11	9	11	10	1	2	1	2	0	0	1	3	3	2	3	2	2	3	4	2	2	2	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr14:100551166G>A	ENST00000544450.2	+	2	449	c.166G>A	c.(166-168)Gtt>Att	p.V56I	EVL_ENST00000555048.1_3'UTR|EVL_ENST00000392920.3_Missense_Mutation_p.V52I|EVL_ENST00000402714.2_Missense_Mutation_p.V50I			Q9UI08	EVL_HUMAN	Enah/Vasp-like	50	WH1.				actin polymerization or depolymerization|axon guidance|cell surface receptor linked signaling pathway|organ morphogenesis	cytoskeleton|cytosol|focal adhesion|lamellipodium	actin binding|profilin binding|SH3 domain binding			cervix(1)|large_intestine(5)|lung(3)|ovary(3)|urinary_tract(2)	14		Melanoma(154;0.152)				CTTCAGAGTCGTTGGAGTCAA	0.532													A	100551166	G	A	100551166	3	1	413	1	0	0	0	0	1	0	0	0	5332	1145	40	1	160	1	EVL	14	100551166	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	53161808	100551166	6798374	20	41556											
OCA2	4948	broad.mit.edu	37	chr15	28273113	28273113	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccagacacctccctgcttAgcaggtatcttcgctcccag	8	9	8	16	1	1	1	0	0	1	1	4	2	3	1	4	1	2	4	4	1	2	3			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28273113A>T	ENST00000354638.3	-	4	574	c.419T>A	c.(418-420)cTa>cAa	p.L140Q	OCA2_ENST00000353809.5_Missense_Mutation_p.L140Q|OCA2_ENST00000382996.2_Missense_Mutation_p.L140Q	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	140					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTCCCTGCTTAGCAGGTATCT	0.552									Oculocutaneous Albinism				T	28273113	A	T	28273113	3	4	413	1	0	0	0	0	1	0	0	0	10891	420	15	5	2181	5	OCA2	15	28273113	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		28273113	74258279	21	41557											
HERC2	8924	broad.mit.edu	37	chr15	28473408	28473408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagggccagcatgccggaaTtgagcagaaggtcgaggttg	10	7	17	7	2	0	3	0	2	0	1	1	5	0	4	2	4	3	3	2	4	2	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:28473408T>C	ENST00000261609.7	-	35	5528	c.5420A>G	c.(5419-5421)aAt>aGt	p.N1807S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1807					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGCCGGAATTGAGCAGAAG	0.592													C	28473408	T	C	28473408	3	2	413	1	0	0	0	0	1	0	0	0	7113	1493	52	3	9320	3	HERC2	15	28473408	Missense_Mutation	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	200295	28473408	74057984	22	41558											
FES	2242	broad.mit.edu	37	chr15	91437242	91437242	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcctgggggcctccccCtatcccaacctcagcaatca	8	8	7	18	0	3	0	3	0	0	0	5	0	5	0	6	2	3	1	6	2	3	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr15:91437242C>T	ENST00000328850.3	+	18	2422	c.2280C>T	c.(2278-2280)ccC>ccT	p.P760P	FES_ENST00000414248.2_Silent_p.P632P|FES_ENST00000394300.3_Silent_p.P702P|FES_ENST00000444422.2_Silent_p.P690P|FES_ENST00000394302.1_Silent_p.P619P|FES_ENST00000450438.2_Silent_p.P632P	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	760	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GGGCCTCCCCCTATCCCAACC	0.607													T	91437242	C	T	91437242	2	4	413	1	0	0	0	0	0	0	0	1	5869	668	24	2		2	FES	15	91437242	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08	62963834	91437242	11094150	23	41559											
ATF7IP2	80063	broad.mit.edu	37	chr16	10551310	10551310	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagtcttctgtgaattatGagccttctaacccttccgaa	12	13	6	10	1	3	2	0	2	3	0	4	3	4	2	3	0	2	0	3	0	6	5			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr16:10551310G>T	ENST00000396560.2	+	7	1503	c.1276G>T	c.(1276-1278)Gag>Tag	p.E426*	ATF7IP2_ENST00000396559.1_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000324570.5_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000356427.2_Nonsense_Mutation_p.E426*|ATF7IP2_ENST00000543967.1_Intron	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	426					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TGTGAATTATGAGCCTTCTAA	0.323													T	10551310	G	T	10551310	4	4	413	1	0	0	0	0	0	1	0	0	1093	1291	45	4	1294	4	ATF7IP2	16	10551310	Nonsense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08		10551310	79803443	24	41560											
ITGAE	3682	broad.mit.edu	37	chr17	3656701	3656701	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaatgtccacagggcacagCtcagagccaaaataggaccc	14	5	9	13	0	2	1	2	0	0	1	3	2	3	2	3	2	2	2	3	2	4	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:3656701C>T	ENST00000263087.4	-	14	1649	c.1551G>A	c.(1549-1551)gaG>gaA	p.E517E		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	517					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CAGGGCACAGCTCAGAGCCAA	0.582													T	3656701	C	T	3656701	2	4	413	1	0	0	0	0	0	0	0	1	7943	796	28	2		2	ITGAE	17	3656701	Silent	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		3656701	77538509	25	41561											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	413	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	3920393	7577094	73618116	26	41562											
MYO9B	4650	broad.mit.edu	37	chr19	17313045	17313045	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacaccaacctggtcctcaAcctcttccagtcactgctag	9	9	7	16	0	3	0	2	0	1	0	5	1	5	1	5	2	3	1	5	2	3	2			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr19:17313045A>C	ENST00000595618.1	+	28	4921	c.4769A>C	c.(4768-4770)aAc>aCc	p.N1590T	MYO9B_ENST00000594824.1_Missense_Mutation_p.N1590T|MYO9B_ENST00000397274.2_Missense_Mutation_p.N1590T	NM_001130065.1|NM_004145.3	NP_001123537.1|NP_004136.2	Q13459	MYO9B_HUMAN	myosin IXB	1590	Tail.				actin filament-based movement	cell cortex|cytosol|filamentous actin|myosin complex|perinuclear region of cytoplasm	actin binding|ADP binding|ATP binding|ATPase activity|calmodulin binding|metal ion binding|microfilament motor activity|Rho GTPase activator activity			breast(3)|endometrium(9)|kidney(2)|large_intestine(1)|lung(19)|soft_tissue(1)|urinary_tract(4)	39						CTGGTCCTCAACCTCTTCCAG	0.572													C	17313045	A	C	17313045	3	2	413	1	0	0	0	0	1	0	0	0	10161	43	2	5	4875	5	MYO9B	19	17313045	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		17313045	41815938	27	41563											
MRPS26	64949	broad.mit.edu	37	chr20	3027057	3027057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagaggaaggtgcacgAggcccgagccggggttctgg	7	5	20	9	3	1	1	0	0	1	1	1	4	1	2	2	7	3	3	2	7	1	1			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chr20:3027057A>G	ENST00000380325.3	+	2	375	c.251A>G	c.(250-252)gAg>gGg	p.E84G		NM_030811.3	NP_110438.1	Q9BYN8	RT26_HUMAN	mitochondrial ribosomal protein S26	84					DNA damage response, detection of DNA damage	mitochondrial small ribosomal subunit				kidney(1)|lung(1)	2						AAGGTGCACGAGGCCCGAGCC	0.701													G	3027057	A	G	3027057	3	3	413	1	0	0	0	0	1	0	0	0	9913	304	11	3	257	3	MRPS26	20	3027057	Missense_Mutation	SNP	A	TCGA-DU-A5TP-01A-11D-A289-08		3027057	59998463	28	41564											
EIF1AX	1964	broad.mit.edu	37	chrX	20156713	20156713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagattcattctcattcttaCccctgcgtctgtttttacct	6	18	4	13	1	4	1	2	0	3	1	5	1	4	1	3	0	3	1	3	0	2	7			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:20156713C>T	ENST00000379607.5	-	2	247	c.44G>A	c.(43-45)gGt>gAt	p.G15D	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	15						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CTCATTCTTACCCCTGCGTCT	0.308													T	20156713	C	T	20156713	3	4	413	1	0	0	0	0	1	0	0	0	5031	507	18	2	414	2	EIF1AX	23	20156713	Missense_Mutation	SNP	C	TCGA-DU-A5TP-01A-11D-A289-08		20156713	135113847	29	41565											
ATRX	546	broad.mit.edu	37	chrX	76938407	76938407	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagatgtagaactttttcGtttcctttttcctttatcat	7	20	5	9	1	1	2	1	0	0	2	4	2	3	2	3	0	1	2	3	0	3	8			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:76938407G>A	ENST00000373344.5	-	9	2555	c.2341C>T	c.(2341-2343)Cga>Tga	p.R781*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R743*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	781					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)	GAACTTTTTCGTTTCCTTTTT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938407	G	A	76938407	4	1	413	1	0	0	0	0	0	1	0	0	1213	1153	40	1	5245	1	ATRX	23	76938407	Nonsense_Mutation	SNP	G	TCGA-DU-A5TP-01A-11D-A289-08	56781694	76938407	78332153	30	41566											
TBC1D8B	54885	broad.mit.edu	37	chrX	106083910	106083910	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacaggtgctgttaaTgacatggctactaatcctga	11	13	8	9	0	2	2	1	2	1	0	3	2	3	2	1	2	2	3	1	2	3	4			TCGA-DU-A5TP-01A-11D-A289-08	TCGA-DU-A5TP-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d307950-3327-4ac5-95e4-5941a28fb077	dba5aeaa-a6d1-4f01-a963-e6d523f8783d	g.chrX:106083910T>C	ENST00000357242.5	+	10	1689	c.1515T>C	c.(1513-1515)aaT>aaC	p.N505N	TBC1D8B_ENST00000276175.3_Silent_p.N499N|TBC1D8B_ENST00000310452.2_Silent_p.N505N	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	505	Rab-GAP TBC.					intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						GTGCTGTTAATGACATGGCTA	0.358													C	106083910	T	C	106083910	2	2	413	1	0	0	0	0	0	0	0	1	15726	1461	51	3		3	TBC1D8B	23	106083910	Silent	SNP	T	TCGA-DU-A5TP-01A-11D-A289-08	29145503	106083910	49186650	31	41567											
SLC2A5	6518	broad.mit.edu	37	chr1	9099884	9099884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacgcccgacagctgctggCcgcccatgaggacgatgatg	8	6	14	13	4	0	3	0	3	0	0	0	6	0	4	3	2	2	2	3	2	0	0			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:9099884C>T	ENST00000377424.4	-	7	1039	c.860G>A	c.(859-861)gGc>gAc	p.G287D	SLC2A5_ENST00000535586.1_Missense_Mutation_p.G172D|SLC2A5_ENST00000536305.1_Missense_Mutation_p.G228D	NM_003039.2	NP_003030.1	P22732	GTR5_HUMAN	solute carrier family 2 (facilitated glucose/fructose transporter), member 5	287					carbohydrate metabolic process	integral to membrane|plasma membrane	fructose transmembrane transporter activity|glucose transmembrane transporter activity			endometrium(6)|kidney(15)|large_intestine(6)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	36	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;7.78e-07)|COAD - Colon adenocarcinoma(227;8.83e-05)|Kidney(185;0.000286)|KIRC - Kidney renal clear cell carcinoma(229;0.00103)|STAD - Stomach adenocarcinoma(132;0.0019)|BRCA - Breast invasive adenocarcinoma(304;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		CAGCTGCTGGCCGCCCATGAG	0.721													T	9099884	C	T	9099884	3	4	414	1	0	0	0	0	1	0	0	0	14642	739	26	2	669	2	SLC2A5	1	9099884	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		9099884	240150737	1	41568											
PRAMEF2	65122	broad.mit.edu	37	chr1	12919085	12919085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgatgaagacgcttcAtctggagccattgaaagcat	12	10	10	9	2	2	4	1	3	1	1	3	5	2	5	1	1	2	3	1	1	2	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:12919085A>G	ENST00000240189.2	+	2	308	c.221A>G	c.(220-222)cAt>cGt	p.H74R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	74										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AAGACGCTTCATCTGGAGCCA	0.562													G	12919085	A	G	12919085	3	3	414	1	0	0	0	0	1	0	0	0	12518	217	8	3	223	3	PRAMEF2	1	12919085	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	3819201	12919085	236331536	2	41569											
SERINC2	347735	broad.mit.edu	37	chr1	31901854	31901854	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaactcgggtctgctgcaGgcctcggtcatcaccctcta	6	9	9	17	2	4	0	2	0	2	0	6	0	4	0	3	3	3	2	3	3	2	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:31901854G>T	ENST00000373710.1	+	8	1110	c.837G>T	c.(835-837)caG>caT	p.Q279H	SERINC2_ENST00000536384.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000536859.1_Missense_Mutation_p.Q274H|SERINC2_ENST00000373709.3_Missense_Mutation_p.Q270H|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	270						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		GTCTGCTGCAGGCCTCGGTCA	0.627													T	31901854	G	T	31901854	3	4	414	1	0	0	0	0	1	0	0	0	14173	991	35	4	836	4	SERINC2	1	31901854	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	18982769	31901854	217348767	3	41570											
CLCA2	9635	broad.mit.edu	37	chr1	86898153	86898153	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagaaggatgcacctttaTctacaatagcacccaaaatg	17	9	6	9	0	1	1	0	0	1	1	1	2	1	2	2	1	3	2	2	1	9	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr1:86898153T>A	ENST00000370565.4	+	5	848	c.686T>A	c.(685-687)aTc>aAc	p.I229N		NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	229					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		TGCACCTTTATCTACAATAGC	0.378													A	86898153	T	A	86898153	3	1	414	1	0	0	0	0	1	0	0	0	3489	1435	50	5	704	5	CLCA2	1	86898153	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08	54996299	86898153	162352468	4	41571											
C2orf50	130813	broad.mit.edu	37	chr2	11273476	11273476	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatggggagccaccccAcccctgggctccagagaacc	9	3	11	18	0	0	1	0	0	0	1	1	3	1	2	8	3	2	2	8	3	1	0			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:11273476A>C	ENST00000381585.3	+	1	298	c.16A>C	c.(16-18)Acc>Ccc	p.T6P	C2orf50_ENST00000405022.3_Missense_Mutation_p.T6P			Q96LR7	CB050_HUMAN	chromosome 2 open reading frame 50	6										breast(1)|large_intestine(1)|upper_aerodigestive_tract(1)	3	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0997)|OV - Ovarian serous cystadenocarcinoma(76;0.134)		GAGCCACCCCACCCCTGGGCT	0.637													C	11273476	A	C	11273476	3	2	414	1	0	0	0	0	1	0	0	0	2193	159	6	5	18	5	C2orf50	2	11273476	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08		11273476	231925897	5	41572											
GPR17	2840	broad.mit.edu	37	chr2	128408985	128408985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgcggcagggcctgcgtgtgGagaagcgcctcaagaccaag	9	5	16	11	3	1	2	1	0	0	2	1	3	1	2	3	3	3	1	3	3	3	0	rs143108762		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:128408985G>A	ENST00000544369.1	+	4	1371	c.760G>A	c.(760-762)Gag>Aag	p.E254K	LIMS2_ENST00000409808.2_Intron|LIMS2_ENST00000409455.1_Intron|LIMS2_ENST00000324938.5_Intron|LIMS2_ENST00000545738.2_Intron|GPR17_ENST00000272644.3_Missense_Mutation_p.E254K|GPR17_ENST00000486700.1_3'UTR|LIMS2_ENST00000355119.4_Intron|GPR17_ENST00000393018.3_Missense_Mutation_p.E254K|LIMS2_ENST00000410011.1_Intron	NM_001161415.1	NP_001154887.1	Q13304	GPR17_HUMAN	G protein-coupled receptor 17	254						integral to plasma membrane	chemokine receptor activity|purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)|urinary_tract(1)	19	Colorectal(110;0.1)	Ovarian(717;0.15)		BRCA - Breast invasive adenocarcinoma(221;0.0677)		CCTGCGTGTGGAGAAGCGCCT	0.622													A	128408985	G	A	128408985	3	1	414	1	0	0	0	0	1	0	0	0	6721	1175	41	2	766	2	GPR17	2	128408985	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	117135509	128408985	114790388	6	41573											
TTN	7273	broad.mit.edu	37	chr2	179436446	179436446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccctggtttgtcaagaaCgataacattaagggtttcaa	13	11	10	7	1	2	1	2	0	0	1	2	2	2	1	1	3	2	2	1	3	5	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:179436446C>T	ENST00000589042.1	-	326	74637	c.74413G>A	c.(74413-74415)Gtt>Att	p.V24805I	TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V15865I|TTN_ENST00000460472.2_Missense_Mutation_p.V15740I|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V15932I|TTN_ENST00000591111.1_Missense_Mutation_p.V23164I|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V22237I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23164	Fibronectin type-III 80.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGTCAAGAACGATAACATTA	0.453													T	179436446	C	T	179436446	3	4	414	1	0	0	0	0	1	0	0	0	16837	536	19	1	33714	1	TTN	2	179436446	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	51027461	179436446	63762927	7	41574											
AOX1	316	broad.mit.edu	37	chr2	201527642	201527642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttcgaatactttgtttatGgagctgcctgttccgaggtt	6	16	10	9	2	0	0	0	0	0	0	2	3	1	1	3	2	3	4	3	2	3	7			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:201527642G>A	ENST00000374700.2	+	31	3734	c.3493G>A	c.(3493-3495)Gga>Aga	p.G1165R	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1165					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CTTTGTTTATGGAGCTGCCTG	0.473													A	201527642	G	A	201527642	3	1	414	1	0	0	0	0	1	0	0	0	731	1349	47	2	3615	2	AOX1	2	201527642	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	22091196	201527642	41671731	8	41575											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	414	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	7585471	209113113	34086260	9	41576											
TGFBR2	7048	broad.mit.edu	37	chr3	30729914	30729914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccatttggttccaaggtgCgggagcacccctgtgtcgaa	7	10	12	12	2	0	0	0	0	0	0	3	2	2	1	4	3	2	2	4	3	2	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:30729914C>T	ENST00000295754.5	+	6	1817	c.1435C>T	c.(1435-1437)Cgg>Tgg	p.R479W	TGFBR2_ENST00000359013.4_Missense_Mutation_p.R504W	NM_003242.5	NP_003233.4	P37173	TGFR2_HUMAN	transforming growth factor, beta receptor II (70/80kDa)	479	Protein kinase.				activation of protein kinase activity|brain development|embryonic cranial skeleton morphogenesis|embryonic hemopoiesis|heart development|myeloid dendritic cell differentiation|palate development|pathway-restricted SMAD protein phosphorylation|patterning of blood vessels|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of B cell tolerance induction|positive regulation of mesenchymal cell proliferation|positive regulation of NK T cell differentiation|positive regulation of reactive oxygen species metabolic process|positive regulation of T cell tolerance induction|positive regulation of tolerance induction to self antigen|response to cholesterol|response to drug|transforming growth factor beta receptor signaling pathway|vasculogenesis	caveola|external side of plasma membrane	ATP binding|glycosaminoglycan binding|metal ion binding|protein binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type II|type I transforming growth factor beta receptor binding|type III transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(15)|lung(10)|ovary(3)|pancreas(12)|skin(1)|stomach(5)|upper_aerodigestive_tract(2)	53						TTCCAAGGTGCGGGAGCACCC	0.502													T	30729914	C	T	30729914	3	4	414	1	0	0	0	0	1	0	0	0	15922	759	27	1	1536	1	TGFBR2	3	30729914	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		30729914	167292516	10	41577											
HYAL2	8692	broad.mit.edu	37	chr3	50357541	50357541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcgatgaccgccagccccGcagactcctgtgtccgaatg	8	7	11	15	4	0	2	0	1	0	1	3	4	2	2	6	0	1	1	6	0	1	0			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:50357541G>A	ENST00000447092.1	-	1	2672	c.380C>T	c.(379-381)gCg>gTg	p.A127V	HYAL2_ENST00000442581.1_Missense_Mutation_p.A127V|HYAL2_ENST00000357750.4_Missense_Mutation_p.A127V|HYAL2_ENST00000395139.3_Missense_Mutation_p.A127V|TUSC2_ENST00000462137.1_5'UTR			Q12891	HYAL2_HUMAN	hyaluronoglucosaminidase 2	127						anchored to membrane|lysosome|plasma membrane	hyalurononglucosaminidase activity|receptor activity			breast(1)|endometrium(2)|kidney(1)|ovary(1)|prostate(1)|skin(1)	7				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)	Hyaluronidase(DB00070)	CGCCAGCCCCGCAGACTCCTG	0.592													A	50357541	G	A	50357541	3	1	414	1	0	0	0	0	1	0	0	0	7522	1087	38	1	1053	1	HYAL2	3	50357541	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	19627627	50357541	147664889	11	41578											
RHO	6010	broad.mit.edu	37	chr3	129251555	129251555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcatgaccatcccagcGttctttgccaagagcgccgc	8	10	8	15	3	3	2	1	1	2	1	4	2	4	2	4	0	3	1	4	0	1	3	rs145004306	by1000genomes	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:129251555G>A	ENST00000296271.3	+	4	970	c.876G>A	c.(874-876)gcG>gcA	p.A292A		NM_000539.3	NP_000530.1	P08100	OPSD_HUMAN	rhodopsin	292			A -> E (in CSNBAD1).		protein-chromophore linkage|rhodopsin mediated signaling pathway	Golgi apparatus|integral to plasma membrane|photoreceptor inner segment membrane|photoreceptor outer segment membrane	G-protein coupled receptor activity|metal ion binding|photoreceptor activity|protein binding			breast(1)|endometrium(1)|large_intestine(10)|lung(6)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	22		all_neural(597;0.0227)|Myeloproliferative disorder(1037;0.0255)|Prostate(884;0.183)		GBM - Glioblastoma multiforme(114;2.58e-05)|Lung(219;0.0234)	Halothane(DB01159)	CCATCCCAGCGTTCTTTGCCA	0.582													A	129251555	G	A	129251555	2	1	414	1	0	0	0	0	0	0	0	1	13419	1132	40	1		1	RHO	3	129251555	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	78894014	129251555	68770875	12	41579											
BCL6	604	broad.mit.edu	37	chr3	187447177	187447180	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															ctgtgggcgagttgggctggCagtcagatttctgggggctc																										TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr3:187447177_187447180delCAGT	ENST00000406870.2	-	5	1379_1382	c.1013_1016delACTG	c.(1012-1017)gactgcfs	p.DC338fs	RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.DC338fs|BCL6_ENST00000450123.2_Frame_Shift_Del_p.DC338fs|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	338					negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		GTTGGGCTGGCAGTCAGATTTCTG	0.603			"T, Mis"	"IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"	"NHL, CLL"								-	187447180	CAGT	-	187447177	7	5	414	1	0	1	0	1	0	0	0	0	1381	710	25	0	1128	0	BCL6	3	187447177	Frame_Shift_Del	DEL	CAGT	TCGA-DU-A5TR-01A-11D-A289-08	58195622	187447177	10575253	13	41580											
TLR1	7096	broad.mit.edu	37	chr4	38799264	38799264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattgttgcagagacttcaTctgtgtagtcatttcagcta	10	15	8	8	0	4	1	3	0	1	1	4	2	4	1	0	0	2	4	0	0	3	6	rs111596029		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr4:38799264T>C	ENST00000308979.2	-	4	1462	c.1189A>G	c.(1189-1191)Atg>Gtg	p.M397V	TLR1_ENST00000502213.2_Missense_Mutation_p.M397V	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	397					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AGAGACTTCATCTGTGTAGTC	0.313													C	38799264	T	C	38799264	3	2	414	1	0	0	0	0	1	0	0	0	16049	1435	50	3	1175	3	TLR1	4	38799264	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		38799264	152355012	14	41581											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241193	60241193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatactactacatcccgcaGtacaagaactggagaggtga	16	7	9	9	1	0	3	0	1	0	2	1	4	1	3	1	2	5	2	1	2	7	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:60241193G>A	ENST00000296597.5	+	1	238	c.111G>A	c.(109-111)caG>caA	p.Q37Q	NDUFAF2_ENST00000511107.1_Silent_p.Q37Q	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	37						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				ACATCCCGCAGTACAAGAACT	0.552													A	60241193	G	A	60241193	2	1	414	1	0	0	0	0	0	0	0	1	10351	1020	36	2		2	NDUFAF2	5	60241193	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		60241193	120674067	15	41582											
CD180	4064	broad.mit.edu	37	chr5	66479020	66479020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatgttaatgctgttggcagCcagattgaggtagattccct	9	13	12	7	0	0	3	0	1	0	2	1	4	1	3	2	2	2	5	2	2	2	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:66479020C>T	ENST00000256447.4	-	3	1808	c.1651G>A	c.(1651-1653)Gct>Act	p.A551T		NM_005582.2	NP_005573.2	Q99467	CD180_HUMAN	CD180 molecule	551					inflammatory response|innate immune response	integral to membrane|plasma membrane	receptor activity			cervix(1)|endometrium(2)|kidney(7)|large_intestine(12)|liver(1)|lung(8)|ovary(1)|stomach(2)	34		Lung NSC(167;4.94e-05)|Prostate(74;0.00601)|Ovarian(174;0.0654)|Breast(144;0.198)|Colorectal(97;0.234)		Lung(70;0.0046)		CTGTTGGCAGCCAGATTGAGG	0.478													T	66479020	C	T	66479020	3	4	414	1	0	0	0	0	1	0	0	0	3002	739	26	2	338	2	CD180	5	66479020	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	6237827	66479020	114436240	16	41583											
CCNB1	891	broad.mit.edu	37	chr5	68467121	68467121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactgcctctccaagcccaAtggaaacatctggatgtgcc	11	9	8	13	0	2	0	0	0	2	0	3	2	2	2	4	2	5	0	4	2	4	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:68467121A>G	ENST00000256442.5	+	4	641	c.388A>G	c.(388-390)Atg>Gtg	p.M130V		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	130					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TCCAAGCCCAATGGAAACATC	0.423													G	68467121	A	G	68467121	3	3	414	1	0	0	0	0	1	0	0	0	2941	101	4	3	402	3	CCNB1	5	68467121	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	1988101	68467121	112448139	17	41584											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581152	178581152	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcccagccgcacctcgTcgccacagcggttgccctgc	4	7	11	19	4	0	0	0	0	0	0	2	0	0	0	5	1	6	3	5	1	0	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr5:178581152T>C	ENST00000251582.7	-	8	1381	c.1280A>G	c.(1279-1281)gAc>gGc	p.D427G	ADAMTS2_ENST00000274609.5_Missense_Mutation_p.D427G	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	427	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CCGCACCTCGTCGCCACAGCG	0.706													C	178581152	T	C	178581152	3	2	414	1	0	0	0	0	1	0	0	0	265	1667	58	3	2490	3	ADAMTS2	5	178581152	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08	110114031	178581152	2334108	18	41585											
UTRN	7402	broad.mit.edu	37	chr6	144724310	144724310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taccaaatggataaatgctcGattttcaaaggtaactgaga	16	11	8	6	1	1	1	1	1	0	1	2	4	1	2	1	2	3	2	1	2	6	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr6:144724310G>A	ENST00000367545.3	+	2	131	c.131G>A	c.(130-132)cGa>cAa	p.R44Q		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	44	Actin-binding.|CH 1.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATAAATGCTCGATTTTCAAAG	0.393													A	144724310	G	A	144724310	3	1	414	1	0	0	0	0	1	0	0	0	17205	1058	37	1	137	1	UTRN	6	144724310	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		144724310	26390757	19	41586											
FIGNL1	63979	broad.mit.edu	37	chr7	50513439	50513439	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtttttatccttctagaaGattcatgctcaccatctccc	8	16	4	13	0	4	2	2	0	2	2	6	2	5	2	3	0	1	2	3	0	3	6			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:50513439G>C	ENST00000419119.1	-	2	3100	c.1547C>G	c.(1546-1548)tCt>tGt	p.S516C	FIGNL1_ENST00000433017.1_Missense_Mutation_p.S516C|FIGNL1_ENST00000356889.4_Missense_Mutation_p.S516C|FIGNL1_ENST00000395556.2_Missense_Mutation_p.S516C			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	516					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CCTTCTAGAAGATTCATGCTC	0.408													C	50513439	G	C	50513439	3	2	414	1	0	0	0	0	1	0	0	0	5941	942	33	4	481	4	FIGNL1	7	50513439	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		50513439	108625224	20	41587											
NSUN5	55695	broad.mit.edu	37	chr7	72717707	72717707	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggaacgtgctcaggcctcgGtggggccaggcaggcagggc	6	4	20	11	2	1	0	1	0	0	0	2	1	1	1	2	8	2	3	2	8	1	0			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:72717707G>C	ENST00000428206.1	-	9	1075	c.1062C>G	c.(1060-1062)caC>caG	p.H354Q	NSUN5_ENST00000438747.2_Missense_Mutation_p.H392Q|NSUN5_ENST00000310326.8_Missense_Mutation_p.H392Q|NSUN5_ENST00000252594.6_Missense_Mutation_p.H392Q	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	392							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TCAGGCCTCGGTGGGGCCAGG	0.662													C	72717707	G	C	72717707	3	2	414	1	0	0	0	0	1	0	0	0	10757	1252	44	4	253	4	NSUN5	7	72717707	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	22204268	72717707	86420956	21	41588											
CNOT4	4850	broad.mit.edu	37	chr7	135106922	135106922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctctgggtctgctaggcGctgagataaacctacaacaa	12	9	9	11	1	2	1	0	1	2	1	2	2	2	1	2	2	5	2	2	2	7	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:135106922G>A	ENST00000428680.2	-	3	634	c.355C>T	c.(355-357)Cgc>Tgc	p.R119C	CNOT4_ENST00000361528.4_Missense_Mutation_p.R119C|CNOT4_ENST00000315544.5_Missense_Mutation_p.R119C|CNOT4_ENST00000541284.1_Missense_Mutation_p.R119C|CNOT4_ENST00000451834.1_Missense_Mutation_p.R119C|CNOT4_ENST00000414802.1_Missense_Mutation_p.R119C|CNOT4_ENST00000423368.2_Missense_Mutation_p.R119C|CNOT4_ENST00000356162.4_Missense_Mutation_p.R119C	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	119	RRM.				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TCTGCTAGGCGCTGAGATAAA	0.363													A	135106922	G	A	135106922	3	1	414	1	0	0	0	0	1	0	0	0	3652	1087	38	1	1705	1	CNOT4	7	135106922	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	62389215	135106922	24031741	22	41589											
SSPO	23145	broad.mit.edu	37	chr7	149527827	149527827	+	RNA	DEL	C	C	-																															agtcacctcctcctcctgtgCcgtcccccacagtcccctca																										TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr7:149527827delC	ENST00000378016.2	+	0	15142							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TCCTCCTGTGCCGTCCCCCAC	0.622													-	149527827	C	-	149527827	6	5	414	0	1	1	0	1	0	0	0	0	15285	754	26	0		0	SSPO	7	149527827	RNA	DEL	C	TCGA-DU-A5TR-01A-11D-A289-08	14420905	149527827	9610836	23	41590											
ASPH	444	broad.mit.edu	37	chr8	62460709	62460709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcacattgtagagtgagCgttgccagacagatgcaaag	13	9	11	8	1	1	4	1	1	0	3	1	4	1	4	1	0	3	3	1	0	2	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:62460709C>T	ENST00000541428.1	-	21	1758	c.1598G>A	c.(1597-1599)cGc>cAc	p.R533H	ASPH_ENST00000379454.4_Missense_Mutation_p.R562H	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	562					muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	GTAGAGTGAGCGTTGCCAGAC	0.448													T	62460709	C	T	62460709	3	4	414	1	0	0	0	0	1	0	0	0	1058	768	27	1	611	1	ASPH	8	62460709	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		62460709	83903313	24	41591											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477192	110477192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaaaaatgccaaaatagtcGgccatcttgatgaactggga	15	10	9	7	1	1	2	0	2	1	0	2	3	1	3	2	2	2	0	2	2	7	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr8:110477192G>A	ENST00000378402.5	+	49	8235	c.8131G>A	c.(8131-8133)Ggc>Agc	p.G2711S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2711					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CAAAATAGTCGGCCATCTTGA	0.463										HNSCC(38;0.096)			A	110477192	G	A	110477192	3	1	414	1	0	0	0	0	1	0	0	0	12049	1116	39	1	8325	1	PKHD1L1	8	110477192	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	48016483	110477192	35886830	25	41592											
IL33	90865	broad.mit.edu	37	chr9	6253587	6253587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttactatgagtctcaacacCcctcaaatgaatcaggtaat	14	11	6	10	0	3	2	3	2	1	0	4	2	3	2	2	1	2	2	2	1	6	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:6253587C>T	ENST00000381434.3	+	5	518	c.505C>T	c.(505-507)Ccc>Tcc	p.P169S	IL33_ENST00000456383.2_Missense_Mutation_p.P127S|IL33_ENST00000417746.2_Missense_Mutation_p.P43S	NM_033439.3	NP_254274.1	O95760	IL33_HUMAN	interleukin 33	169					positive regulation of chemokine secretion|positive regulation of inflammatory response|positive regulation of macrophage activation|positive regulation of transcription from RNA polymerase II promoter	extracellular space	cytokine activity			breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|stomach(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(23;0.158)|Prostate(43;0.167)		GBM - Glioblastoma multiforme(50;0.0161)|Lung(218;0.105)		GTCTCAACACCCCTCAAATGA	0.383													T	6253587	C	T	6253587	3	4	414	1	0	0	0	0	1	0	0	0	7751	623	22	2	523	2	IL33	9	6253587	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		6253587	134959844	26	41593											
FPGS	2356	broad.mit.edu	37	chr9	130575671	130575671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagctccctcgtcttcAgctgcatttcacatgccttg	5	13	8	15	1	3	0	2	0	1	0	5	0	4	0	3	0	5	3	3	0	0	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:130575671A>G	ENST00000373225.3	+	15	1611	c.1402A>G	c.(1402-1404)Agc>Ggc	p.S468G	FPGS_ENST00000393706.2_Missense_Mutation_p.S492G|FPGS_ENST00000373247.2_Missense_Mutation_p.S518G|FPGS_ENST00000460181.1_3'UTR|FPGS_ENST00000373245.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	518					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	CCTCGTCTTCAGCTGCATTTC	0.652													G	130575671	A	G	130575671	3	3	414	1	0	0	0	0	1	0	0	0	6087	188	7	3	1610	3	FPGS	9	130575671	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	124322084	130575671	10637760	27	41594											
NOTCH1	4851	broad.mit.edu	37	chr9	139412326	139412326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgtgtagccctgcagaCactggcactcgaaggagccc	8	5	13	15	2	0	1	0	0	0	1	1	3	0	2	3	3	3	3	3	3	2	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr9:139412326C>G	ENST00000277541.6	-	8	1394	c.1319G>C	c.(1318-1320)tGt>tCt	p.C440S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	440	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCCTGCAGACACTGGCACTC	0.657			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G	139412326	C	G	139412326	3	3	414	1	0	0	0	0	1	0	0	0	10623	478	17	4	6456	4	NOTCH1	9	139412326	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	8836655	139412326	1801105	28	41595											
ITPRIP	85450	broad.mit.edu	37	chr10	106074373	106074373	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggcaccttgcggttgccGatgaagaagtggtggagctt	8	10	15	8	2	1	2	1	1	0	1	1	4	1	3	2	4	3	3	2	4	2	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:106074373G>A	ENST00000278071.2	-	3	1889	c.1437C>T	c.(1435-1437)atC>atT	p.I479I	ITPRIP_ENST00000358187.2_Silent_p.I479I|ITPRIP_ENST00000337478.1_Silent_p.I479I	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	479						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TGCGGTTGCCGATGAAGAAGT	0.637													A	106074373	G	A	106074373	2	1	414	1	0	0	0	0	0	0	0	1	7981	1048	37	1		1	ITPRIP	10	106074373	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		106074373	29460374	29	41596											
ATE1	11101	broad.mit.edu	37	chr10	123673408	123673408	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaattgtaaaggtcggcaCctaggaaagcaaaataaata	19	8	9	5	1	0	1	0	1	0	0	1	2	0	2	1	3	1	3	1	3	10	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr10:123673408C>A	ENST00000369043.3	-	4	320	c.234G>T	c.(232-234)agG>agT	p.R78S	ATE1_ENST00000543447.1_Intron|ATE1_ENST00000369040.3_5'UTR|ATE1_ENST00000535655.1_5'UTR|ATE1_ENST00000224652.6_Splice_Site_p.R78S|ATE1_ENST00000540606.1_Splice_Site_p.R71S	NM_007041.2	NP_008972.2	O95260	ATE1_HUMAN	arginyltransferase 1	78					protein arginylation	cytoplasm|nucleus	acyltransferase activity|arginyltransferase activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		all_neural(114;0.061)|Lung NSC(174;0.095)|all_lung(145;0.124)|Breast(234;0.212)				AAGGTCGGCACCTAGGAAAGC	0.363													A	123673408	C	A	123673408	5	1	414	1	0	0	0	0	0	0	1	0	1083	521	18	4	1491	4	ATE1	10	123673408	Splice_Site	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	17599035	123673408	11861339	30	41597											
OR10A3	26496	broad.mit.edu	37	chr11	7960884	7960884	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagataggttcaggaggaAcaggtacatgggaacgtgga	14	6	15	6	1	1	1	1	0	0	1	1	5	1	5	0	6	3	2	0	6	4	3			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:7960884A>C	ENST00000360759.3	-	1	257	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V		NM_001003745.1	NP_001003745.1	P58181	O10A3_HUMAN	olfactory receptor, family 10, subfamily A, member 3	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)	21				Epithelial(150;1.38e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTCAGGAGGAACAGGTACATG	0.453													C	7960884	A	C	7960884	3	2	414	1	0	0	0	0	1	0	0	0	10967	43	2	5	763	5	OR10A3	11	7960884	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08		7960884	127045632	31	41598											
AMBRA1	55626	broad.mit.edu	37	chr11	46563768	46563768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggagctggggacctgcCaagaggaactagcctcgcca	12	4	13	12	1	0	1	0	0	0	1	1	4	0	4	4	4	4	1	4	4	4	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr11:46563768C>T	ENST00000458649.2	-	7	2217	c.1799G>A	c.(1798-1800)tGg>tAg	p.W600*	AMBRA1_ENST00000298834.3_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000426438.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000314845.3_Nonsense_Mutation_p.W510*|AMBRA1_ENST00000533727.1_Nonsense_Mutation_p.W510*|AMBRA1_ENST00000528950.1_Nonsense_Mutation_p.W600*|AMBRA1_ENST00000534300.1_Nonsense_Mutation_p.W600*			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	600	Ser-rich.				autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GGGGACCTGCCAAGAGGAACT	0.592													T	46563768	C	T	46563768	4	4	414	1	0	0	0	0	0	1	0	0	565	595	21	2	2145	2	AMBRA1	11	46563768	Nonsense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	38602884	46563768	88442748	32	41599											
ATN1	1822	broad.mit.edu	37	chr12	7045025	7045025	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctggatatcatgctcccatgGagccccccacatctcgaatg	9	9	8	15	1	2	0	1	0	1	0	4	3	3	2	4	2	2	1	4	2	2	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:7045025G>C	ENST00000356654.4	+	5	832	c.595G>C	c.(595-597)Gag>Cag	p.E199Q	ATN1_ENST00000396684.2_Missense_Mutation_p.E199Q	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	199					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTCCCATGGAGCCCCCCAC	0.617													C	7045025	G	C	7045025	3	2	414	1	0	0	0	0	1	0	0	0	1116	1175	41	4	609	4	ATN1	12	7045025	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		7045025	126806870	33	41600											
RPH3A	22895	broad.mit.edu	37	chr12	113325686	113325686	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcaagaaactgaagcccaaCcagaggaagaatttcaacat	18	6	7	10	0	2	4	2	1	0	3	2	5	2	5	2	1	4	0	2	1	7	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:113325686C>A	ENST00000389385.4	+	17	2018	c.1521C>A	c.(1519-1521)aaC>aaA	p.N507K	RPH3A_ENST00000548866.1_Missense_Mutation_p.N458K|RPH3A_ENST00000551052.1_Missense_Mutation_p.N503K|RPH3A_ENST00000543106.2_Missense_Mutation_p.N507K|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.N507K|RPH3A_ENST00000447659.2_Missense_Mutation_p.N458K|RPH3A_ENST00000420983.2_Missense_Mutation_p.N507K	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A homolog (mouse)	507					intracellular protein transport	cell junction|synaptic vesicle	Rab GTPase binding|transporter activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		TGAAGCCCAACCAGAGGAAGA	0.498													A	113325686	C	A	113325686	3	1	414	1	0	0	0	0	1	0	0	0	13642	506	18	4	1579	4	RPH3A	12	113325686	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	106280661	113325686	20526209	34	41601											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123649912	123649912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatatttttccctcatcaaGttcttttaaagctctcatga	12	17	3	9	0	4	1	3	1	2	0	6	1	5	1	1	0	1	2	1	0	5	6			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr12:123649912G>C	ENST00000606320.1	-	18	2910	c.2704C>G	c.(2704-2706)Ctt>Gtt	p.L902V	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.L872V|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.L750V|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.L750V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	750					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		CCCTCATCAAGTTCTTTTAAA	0.373													C	123649912	G	C	123649912	3	2	414	1	0	0	0	0	1	0	0	0	9804	1029	36	4	875	4	MPHOSPH9	12	123649912	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	10324226	123649912	10201983	35	41602											
KLHL28	54813	broad.mit.edu	37	chr14	45403339	45403339	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcatgtgggcaggaccaTacccaccaatggcatatatc	11	10	9	11	0	1	0	1	0	0	0	2	1	1	1	3	3	1	3	3	3	4	4			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr14:45403339T>C	ENST00000396128.4	-	3	1441	c.1322A>G	c.(1321-1323)tAt>tGt	p.Y441C	KLHL28_ENST00000355081.2_Missense_Mutation_p.Y455C	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	441										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GGCAGGACCATACCCACCAAT	0.363													C	45403339	T	C	45403339	3	2	414	1	0	0	0	0	1	0	0	0	8440	1406	49	3	405	3	KLHL28	14	45403339	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		45403339	61946201	36	41603											
GANC	2595	broad.mit.edu	37	chr15	42600494	42600494	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccacaacatgcagaaTcacaccaacttaaaaatact	18	7	4	12	0	1	1	1	0	0	1	2	2	2	2	2	1	4	1	2	1	7	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr15:42600494T>C	ENST00000318010.8	+	8	940	c.700T>C	c.(700-702)Tca>Cca	p.S234P	GANC_ENST00000566442.1_Missense_Mutation_p.S234P	NM_198141.2	NP_937784.2	Q8TET4	GANC_HUMAN	glucosidase, alpha; neutral C	234					carbohydrate metabolic process		carbohydrate binding|maltose alpha-glucosidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		all_cancers(109;3.08e-16)|all_epithelial(112;7.48e-15)|Lung NSC(122;3.08e-09)|all_lung(180;1.48e-08)|Melanoma(134;0.0574)|Colorectal(260;0.153)		GBM - Glioblastoma multiforme(94;1.06e-06)		ACATGCAGAATCACACCAACT	0.393													C	42600494	T	C	42600494	3	2	414	1	0	0	0	0	1	0	0	0	6288	1435	50	3	730	3	GANC	15	42600494	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		42600494	59930898	37	41604											
NLRP1	22861	broad.mit.edu	37	chr17	5442862	5442862	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggcactaagcacagaggCcaggtcctggcagcagtcag	10	5	14	12	0	1	1	1	0	0	1	2	1	2	1	2	4	2	5	2	4	1	1	rs148522172		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:5442862C>T	ENST00000345221.3	-	7	3297	c.2743G>A	c.(2743-2745)Gcc>Acc	p.A915T	NLRP1_ENST00000577119.1_Missense_Mutation_p.A915T|NLRP1_ENST00000269280.4_Missense_Mutation_p.A915T|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000354411.3_Missense_Mutation_p.A915T|NLRP1_ENST00000572272.1_Missense_Mutation_p.A915T|NLRP1_ENST00000262467.5_Missense_Mutation_p.A915T	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	915					defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				AGCACAGAGGCCAGGTCCTGG	0.612													T	5442862	C	T	5442862	3	4	414	1	0	0	0	0	1	0	0	0	10547	739	26	2	1797	2	NLRP1	17	5442862	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		5442862	75752348	38	41605											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	414	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	2134259	7577121	73618089	39	41606											
ABCA10	10349	broad.mit.edu	37	chr17	67189276	67189276	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagatgtcagcctcatccatGaattgggtactgaagaggat	13	10	11	7	0	2	4	2	2	0	2	3	5	3	5	2	2	2	1	2	2	4	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr17:67189276G>C	ENST00000269081.4	-	16	2664	c.1755C>G	c.(1753-1755)ttC>ttG	p.F585L	ABCA10_ENST00000416101.2_3'UTR	NM_080282.3	NP_525021.3	Q8WWZ4	ABCAA_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 10	585	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(34)|ovary(2)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	81	Breast(10;6.95e-12)					CCTCATCCATGAATTGGGTAC	0.418													C	67189276	G	C	67189276	3	2	414	1	0	0	0	0	1	0	0	0	29	1281	45	4	2976	4	ABCA10	17	67189276	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	59612155	67189276	14005934	40	41607											
MEX3D	399664	broad.mit.edu	37	chr19	1556792	1556792	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagaagtgttcggccgcCgacaggatctcacgcttggc	8	8	14	11	4	1	1	1	0	1	1	3	4	1	2	2	4	0	2	2	4	1	2			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:1556792C>T	ENST00000402693.4	-	2	725	c.726G>A	c.(724-726)tcG>tcA	p.S242S	MEX3D_ENST00000388824.6_Silent_p.S242S	NM_203304.3	NP_976049.3	Q86XN8	MEX3D_HUMAN	mex-3 RNA binding family member D	242					mRNA destabilization|posttranscriptional regulation of gene expression by mRNA localization|regulation of anti-apoptosis	nucleus|perinuclear region of cytoplasm	AU-rich element binding|zinc ion binding			endometrium(1)|lung(3)	4		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GTTCGGCCGCCGACAGGATCT	0.682													T	1556792	C	T	1556792	2	4	414	1	0	0	0	0	0	0	0	1	9587	639	23	1		1	MEX3D	19	1556792	Silent	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08		1556792	57572191	41	41608											
MUC16	94025	broad.mit.edu	37	chr19	9080468	9080468	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctggactgctccccGtctcctctgctggggcaggc	3	10	12	16	1	2	0	0	0	2	0	4	1	3	1	4	4	4	4	4	4	1	1			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:9080468G>T	ENST00000397910.4	-	2	9766	c.9563C>A	c.(9562-9564)aCg>aAg	p.T3188K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3189	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						ACTGCTCCCCGTCTCCTCTGC	0.463													T	9080468	G	T	9080468	3	4	414	1	0	0	0	0	1	0	0	0	10049	1145	40	4	34292	4	MUC16	19	9080468	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	7523676	9080468	50048515	42	41609											
NWD1	284434	broad.mit.edu	37	chr19	16860397	16860397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagaccttctgcggacGccaggaactcctggcccggc	7	7	11	16	3	2	1	1	0	1	1	3	3	3	3	4	4	2	0	4	4	1	2	rs143471757	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:16860397G>A	ENST00000524140.2	+	6	1362	c.944G>A	c.(943-945)cGc>cAc	p.R315H	NWD1_ENST00000523826.1_Missense_Mutation_p.R109H|NWD1_ENST00000339803.6_Missense_Mutation_p.R180H|NWD1_ENST00000379808.3_Missense_Mutation_p.R315H|NWD1_ENST00000552788.1_Missense_Mutation_p.R315H|NWD1_ENST00000549814.1_Missense_Mutation_p.R315H	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	315							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TTCTGCGGACGCCAGGAACTC	0.622													A	16860397	G	A	16860397	3	1	414	1	0	0	0	0	1	0	0	0	10857	1087	38	1	545	1	NWD1	19	16860397	Missense_Mutation	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08	7779929	16860397	42268586	43	41610											
ZNF776	284309	broad.mit.edu	37	chr19	58264700	58264700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagacaccttctaagcagAccctttctatacaacaggag	14	8	7	12	1	2	2	0	0	2	2	2	4	2	3	2	1	3	1	2	1	4	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr19:58264700A>G	ENST00000317178.5	+	3	465	c.202A>G	c.(202-204)Acc>Gcc	p.T68A	ZNF776_ENST00000431353.1_3'UTR|AC003006.7_ENST00000594684.1_Missense_Mutation_p.T68A	NM_173632.3	NP_775903.3			zinc finger protein 776											cervix(1)|endometrium(2)|kidney(13)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0256)		TTCTAAGCAGACCCTTTCTAT	0.463													G	58264700	A	G	58264700	3	3	414	1	0	0	0	0	1	0	0	0	18248	275	10	3	212	3	ZNF776	19	58264700	Missense_Mutation	SNP	A	TCGA-DU-A5TR-01A-11D-A289-08	41404303	58264700	864283	44	41611											
SALL4	57167	broad.mit.edu	37	chr20	50407510	50407510	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggctgcaggtcaccGggcaaggagccacccgtgag	8	3	16	14	2	1	1	1	1	0	0	1	2	1	2	4	5	2	3	4	5	1	0	rs138804604	byFrequency	TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr20:50407510G>A	ENST00000217086.4	-	2	1623	c.1512C>T	c.(1510-1512)ccC>ccT	p.P504P	SALL4_ENST00000371539.3_Intron|SALL4_ENST00000395997.3_Intron	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	504					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GCAGGTCACCGGGCAAGGAGC	0.567													A	50407510	G	A	50407510	2	1	414	1	0	0	0	0	0	0	0	1	13904	1103	39	1		1	SALL4	20	50407510	Silent	SNP	G	TCGA-DU-A5TR-01A-11D-A289-08		50407510	12618010	45	41612											
CTCFL	140690	broad.mit.edu	37	chr20	56093842	56093842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcatacttgcacatggaaCatttaaagggtttctcatga	12	13	9	7	0	1	1	1	1	1	0	2	2	1	2	0	3	3	3	0	3	4	5			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chr20:56093842C>T	ENST00000608263.1	-	4	1692	c.1031G>A	c.(1030-1032)tGt>tAt	p.C344Y	CTCFL_ENST00000432255.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000609232.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000481655.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000371196.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000608440.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000429804.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000422869.2_Missense_Mutation_p.C344Y|CTCFL_ENST00000608425.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000608858.1_5'UTR|CTCFL_ENST00000608158.1_Missense_Mutation_p.C344Y|CTCFL_ENST00000608903.1_Missense_Mutation_p.C82Y|CTCFL_ENST00000423479.3_Missense_Mutation_p.C344Y|CTCFL_ENST00000539382.1_Missense_Mutation_p.C139Y|CTCFL_ENST00000433949.3_Missense_Mutation_p.C139Y|CTCFL_ENST00000502686.2_Missense_Mutation_p.C82Y|CTCFL_ENST00000243914.3_Missense_Mutation_p.C344Y	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			GCACATGGAACATTTAAAGGG	0.458													T	56093842	C	T	56093842	3	4	414	1	0	0	0	0	1	0	0	0	4034	478	17	2	988	2	CTCFL	20	56093842	Missense_Mutation	SNP	C	TCGA-DU-A5TR-01A-11D-A289-08	5686332	56093842	6931678	46	41613											
ATRX	546	broad.mit.edu	37	chrX	76875911	76875911	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgttaaaataatcctccTccttgatcgtatagaattca	12	15	4	10	1	1	2	1	1	0	1	6	2	5	2	4	0	0	2	4	0	6	6			TCGA-DU-A5TR-01A-11D-A289-08	TCGA-DU-A5TR-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	56852011-5aeb-486e-bb3b-a18a3dc03c9e	cb5a609e-6d17-48f8-b473-8f6f9a8fef59	g.chrX:76875911T>C	ENST00000373344.5	-	20	5438	c.5224A>G	c.(5224-5226)Agg>Ggg	p.R1742G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1704G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1742	Helicase ATP-binding.		R -> K (in ATRX; atypical; patients presents spastic paraplegia at birth).		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)	ATAATCCTCCTCCTTGATCGT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76875911	T	C	76875911	3	2	414	1	0	0	0	0	1	0	0	0	1213	1550	54	3	2318	3	ATRX	23	76875911	Missense_Mutation	SNP	T	TCGA-DU-A5TR-01A-11D-A289-08		76875911	78394649	47	41614											
KLHL17	339451	broad.mit.edu	37	chr1	897822	897822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagctgggtgaaacacgacGtggacgcccgcaggcagcat	10	5	15	11	4	0	2	0	2	0	0	0	4	0	3	1	3	3	4	1	3	1	0			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:897822G>A	ENST00000338591.3	+	5	906	c.799G>A	c.(799-801)Gtg>Atg	p.V267M		NM_198317.2	NP_938073.1	Q6TDP4	KLH17_HUMAN	kelch-like family member 17	267	BACK.				actin cytoskeleton organization	actin cytoskeleton|cell junction|postsynaptic density|postsynaptic membrane	protein complex scaffold			central_nervous_system(1)|kidney(2)|lung(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.52e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.59e-23)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GAAACACGACGTGGACGCCCG	0.677													A	897822	G	A	897822	3	1	415	1	0	0	0	0	1	0	0	0	8430	1145	40	1	817	1	KLHL17	1	897822	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		897822	248352799	1	41615											
AP4B1	10717	broad.mit.edu	37	chr1	114443970	114443970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaattggatcctggtcacGcagcaaactgtataattcat	13	12	7	9	1	2	0	2	0	0	0	3	1	3	1	1	2	3	3	1	2	5	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:114443970G>A	ENST00000369569.1	-	4	785	c.505C>T	c.(505-507)Cgt>Tgt	p.R169C	AP4B1_ENST00000256658.4_Missense_Mutation_p.R169C|AP4B1_ENST00000369567.1_Intron|AP4B1_ENST00000369566.3_Intron	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	169					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGGTCACGCAGCAAACTG	0.413													A	114443970	G	A	114443970	3	1	415	1	0	0	0	0	1	0	0	0	753	1087	38	1	1742	1	AP4B1	1	114443970	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	113546148	114443970	134806651	2	41616											
SEMA4A	64218	broad.mit.edu	37	chr1	156144932	156144932	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggtgccccgagccaactGtagtgtctatgagagctgtg	8	9	15	9	1	1	1	0	1	1	1	1	4	1	1	3	1	4	2	3	1	3	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:156144932G>T	ENST00000368285.3	+	13	1757	c.1490G>T	c.(1489-1491)tGt>tTt	p.C497F	SEMA4A_ENST00000355014.2_Missense_Mutation_p.C497F|SEMA4A_ENST00000368286.2_Missense_Mutation_p.C365F|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368284.1_Missense_Mutation_p.C365F|SEMA4A_ENST00000368282.1_Missense_Mutation_p.C497F	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	497	PSI.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					CGAGCCAACTGTAGTGTCTAT	0.602													T	156144932	G	T	156144932	3	4	415	1	0	0	0	0	1	0	0	0	14124	1377	48	4	1536	4	SEMA4A	1	156144932	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	41700962	156144932	93105689	3	41617											
NCSTN	23385	broad.mit.edu	37	chr1	160321849	160321851	+	In_Frame_Del	DEL	TAG	TAG	-																															ttctgttgtacctagctggaTagtcgttcctttttctggaa																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:160321849_160321851delTAG	ENST00000368063.1	+	9	1069_1071	c.789_791delTAG	c.(787-792)gatagt>gat	p.S264del	NCSTN_ENST00000459963.1_3'UTR|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000392212.4_In_Frame_Del_p.S264del|NCSTN_ENST00000368065.4_In_Frame_Del_p.S26del|NCSTN_ENST00000294785.5_In_Frame_Del_p.S284del			Q92542	NICA_HUMAN	nicastrin	284					amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCTAGCTGGATAGTCGTTCCTTT	0.488													-	160321851	TAG	-	160321849	7	5	415	1	0	1	0	1	0	0	0	0	10317	1403	49	0	879	0	NCSTN	1	160321849	In_Frame_Del	DEL	TAG	TCGA-DU-A5TS-01A-11D-A289-08	4176917	160321849	88928772	4	41618											
RFWD2	64326	broad.mit.edu	37	chr1	175957522	175957523	+	Frame_Shift_Del	DEL	CA	CA	-																															agtatggtttccctacattcCacagttttagctgactgtct																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:175957522_175957523delCA	ENST00000367669.3	-	17	2387_2388	c.1873_1874delTG	c.(1873-1875)tggfs	p.W625fs	RFWD2_ENST00000308769.8_Frame_Shift_Del_p.W601fs	NM_022457.5	NP_071902.2	Q8NHY2	RFWD2_HUMAN	ring finger and WD repeat domain 2, E3 ubiquitin protein ligase	625					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest	centrosome|cytosol|focal adhesion|nuclear speck	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCTACATTCCACAGTTTTAGC	0.391													-	175957523	CA	-	175957522	7	5	415	1	0	1	0	1	0	0	0	0	13348	595	21	0	337	0	RFWD2	1	175957522	Frame_Shift_Del	DEL	CA	TCGA-DU-A5TS-01A-11D-A289-08	15635673	175957522	73293099	5	41619											
HMCN1	83872	broad.mit.edu	37	chr1	185969241	185969241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacaggcagagagcctggCatttctatcttggaagatgg	10	11	13	7	0	2	3	0	1	2	2	2	5	2	4	1	4	1	2	1	4	2	4			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:185969241C>T	ENST00000271588.4	+	26	4168	c.3939C>T	c.(3937-3939)ggC>ggT	p.G1313G	HMCN1_ENST00000367492.2_Silent_p.G1313G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1313	Ig-like C2-type 10.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAGAGCCTGGCATTTCTATCT	0.413													T	185969241	C	T	185969241	2	4	415	1	0	0	0	0	0	0	0	1	7275	697	25	2		2	HMCN1	1	185969241	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	10011719	185969241	63281380	6	41620											
IL19	29949	broad.mit.edu	37	chr1	207010002	207010005	+	Splice_Site	DEL	GCAG	GCAG	-																															gctgacttcctctcctttctGcaggcatgaagttacagtgt																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:207010002_207010005delGCAG	ENST00000270218.6	+	3	937		c.e3-1		IL19_ENST00000340758.2_Splice_Site	NM_013371.3	NP_037503.2	Q9UHD0	IL19_HUMAN	interleukin 19						apoptosis|immune response|signal transduction	extracellular space	cytokine activity			central_nervous_system(2)|large_intestine(1)|lung(2)|ovary(1)|stomach(1)	7			BRCA - Breast invasive adenocarcinoma(75;0.211)			TCTCCTTTCTGCAGGCATGAAGTT	0.51													-	207010005	GCAG	-	207010002	8	5	415	1	0	1	0	1	0	0	1	0	7707	1334	46	0		0	IL19	1	207010002	Splice_Site	DEL	GCAG	TCGA-DU-A5TS-01A-11D-A289-08	21040761	207010002	42240619	7	41621											
PCNXL2	80003	broad.mit.edu	37	chr1	233394931	233394931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcctctttcctttcctttaCcattgatgagagtttctgtg	5	19	6	11	0	2	2	0	2	2	1	5	3	5	2	4	0	1	1	4	0	1	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr1:233394931C>T	ENST00000258229.9	-	5	911	c.677G>A	c.(676-678)gGt>gAt	p.G226D	PCNXL2_ENST00000430153.1_5'UTR	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CTTTCCTTTACCATTGATGAG	0.507													T	233394931	C	T	233394931	3	4	415	1	0	0	0	0	1	0	0	0	11668	507	18	2	5856	2	PCNXL2	1	233394931	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	26384929	233394931	15855690	8	41622											
DNMT3A	1788	broad.mit.edu	37	chr2	25467457	25467457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacctcacggcccccacagCagatggtgcagtaggactgg	9	5	13	14	1	1	1	1	0	0	1	1	2	1	2	3	4	2	4	3	4	1	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:25467457C>T	ENST00000264709.3	-	14	1956	c.1619G>A	c.(1618-1620)tGc>tAc	p.C540Y	DNMT3A_ENST00000402667.1_Missense_Mutation_p.C317Y|DNMT3A_ENST00000380746.4_Missense_Mutation_p.C351Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.C540Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	540	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCCCCACAGCAGATGGTGCA	0.602			"Mis, F, N, S"		AML								T	25467457	C	T	25467457	3	4	415	1	0	0	0	0	1	0	0	0	4715	710	25	2	1159	2	DNMT3A	2	25467457	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		25467457	217731916	9	41623											
WDR92	116143	broad.mit.edu	37	chr2	68385203	68385203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagggcggggatgcgggccGcatggacacagaggaggcca	10	2	20	9	3	0	2	0	0	0	2	0	5	0	5	2	7	1	1	2	7	0	0			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:68385203G>A	ENST00000406334.3	-	7	705	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	PNO1_ENST00000263657.2_Missense_Mutation_p.R46H						0																	GATGCGGGCCGCATGGACACA	0.677													A	68385203	G	A	68385203	3	1	415	1	0	0	0	0	1	0	0	0	17441	1087	38	1		1	WDR92	2	68385203	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	42917746	68385203	174814170	10	41624											
ADD2	119	broad.mit.edu	37	chr2	70919611	70919611	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagatggccgagtgcagaCagaagcctgtggtgtccact	10	8	13	10	1	0	3	0	0	0	3	1	4	1	3	3	2	2	1	3	2	2	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:70919611C>G	ENST00000264436.4	-	7	1073	c.629G>C	c.(628-630)tGt>tCt	p.C210S	ADD2_ENST00000407644.2_Missense_Mutation_p.C210S|ADD2_ENST00000413157.2_Missense_Mutation_p.C210S|ADD2_ENST00000430656.1_Missense_Mutation_p.C226S|ADD2_ENST00000355733.3_Missense_Mutation_p.C210S	NM_001617.3	NP_001608.1	P35612	ADDB_HUMAN	adducin 2 (beta)						actin filament bundle assembly|barbed-end actin filament capping|positive regulation of protein binding	cytoplasm|F-actin capping protein complex|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding			autonomic_ganglia(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(11)|lung(13)|ovary(3)|pancreas(1)|skin(2)	36						CGAGTGCAGACAGAAGCCTGT	0.597													G	70919611	C	G	70919611	3	3	415	1	0	0	0	0	1	0	0	0	305	478	17	4	1768	4	ADD2	2	70919611	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	2534408	70919611	172279762	11	41625											
ANKRD36	375248	broad.mit.edu	37	chr2	97909606	97909606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccatacagcaagaaaaaaAgaaaagaagaaatgttgaag	23	5	9	4	0	0	5	0	1	0	4	0	5	0	5	1	0	3	2	1	0	10	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:97909606A>G	ENST00000420699.2	+	70	4653	c.4409A>G	c.(4408-4410)aAg>aGg	p.K1470R	ANKRD36_ENST00000461153.2_Missense_Mutation_p.K1470R	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1470										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CAAGAAAAAAAGAAAAGAAGA	0.313													G	97909606	A	G	97909606	3	3	415	1	0	0	0	0	1	0	0	0	665	72	3	3	4687	3	ANKRD36	2	97909606	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	26989995	97909606	145289767	12	41626											
PKP4	8502	broad.mit.edu	37	chr2	159537147	159537147	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccactaaacgaccttcttaTagagcagaacagtacccagg	14	8	7	12	1	1	2	0	0	1	2	2	3	2	2	3	1	4	2	3	1	6	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:159537147T>C	ENST00000389757.3	+	21	3533	c.3408T>C	c.(3406-3408)taT>taC	p.Y1136Y	AC005042.4_ENST00000342892.4_RNA|PKP4_ENST00000389759.3_Silent_p.Y1179Y|AC005042.4_ENST00000442666.1_RNA	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4	1179					cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						GACCTTCTTATAGAGCAGAAC	0.428										HNSCC(62;0.18)			C	159537147	T	C	159537147	2	2	415	1	0	0	0	0	0	0	0	1	12064	1413	49	3		3	PKP4	2	159537147	Silent	SNP	T	TCGA-DU-A5TS-01A-11D-A289-08	61627541	159537147	83662226	13	41627											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	415	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	49575965	209113112	34086261	14	41628											
RHBDD1	84236	broad.mit.edu	37	chr2	227729609	227729609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcaaaaagactggcagcGtttactgctctctccccttc	9	10	7	15	1	1	1	0	0	1	1	4	1	2	1	3	1	4	4	3	1	3	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:227729609G>A	ENST00000392062.2	+	4	724	c.200G>A	c.(199-201)cGt>cAt	p.R67H	RHBDD1_ENST00000341329.3_Missense_Mutation_p.R67H	NM_001167608.1	NP_001161080.1	Q8TEB9	RHBD1_HUMAN	rhomboid domain containing 1	67						integral to membrane	serine-type endopeptidase activity			breast(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.023)|all_lung(227;0.13)|Esophageal squamous(248;0.23)|all_hematologic(139;0.248)		Epithelial(121;1.47e-11)|all cancers(144;1.52e-08)|Lung(261;0.0128)|LUSC - Lung squamous cell carcinoma(224;0.0175)		GACTGGCAGCGTTTACTGCTC	0.453													A	227729609	G	A	227729609	3	1	415	1	0	0	0	0	1	0	0	0	13405	1145	40	1	202	1	RHBDD1	2	227729609	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	18616497	227729609	15469764	15	41629											
USP40	55230	broad.mit.edu	37	chr2	234408535	234408535	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaacttaccttgtaggccAgatttcttcagcattaactt	11	15	6	9	0	2	1	1	0	1	1	2	1	2	1	2	1	4	3	2	1	4	8			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr2:234408535A>G	ENST00000251722.6	-	22	2754	c.2637T>C	c.(2635-2637)tcT>tcC	p.S879S	USP40_ENST00000409945.1_Silent_p.S55S|USP40_ENST00000427112.2_Silent_p.S879S|USP40_ENST00000450966.1_Silent_p.S891S			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	879					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		CTTGTAGGCCAGATTTCTTCA	0.308													G	234408535	A	G	234408535	2	3	415	1	0	0	0	0	0	0	0	1	17174	175	7	3		3	USP40	2	234408535	Silent	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	6678926	234408535	8790838	16	41630											
STAB1	23166	broad.mit.edu	37	chr3	52539710	52539710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctgccctccatcctggaCggacctgggcccttcacagt	5	8	12	16	1	1	0	1	0	0	0	3	2	3	2	5	4	1	1	5	4	0	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:52539710C>T	ENST00000321725.6	+	15	1684	c.1608C>T	c.(1606-1608)gaC>gaT	p.D536D		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	536	FAS1 2.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CCATCCTGGACGGACCTGGGC	0.637													T	52539710	C	T	52539710	2	4	415	1	0	0	0	0	0	0	0	1	15333	535	19	1		1	STAB1	3	52539710	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		52539710	145482720	17	41631											
OR5H14	403273	broad.mit.edu	37	chr3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcaagatacagttgttttCgtttgcaatcagtgtaacca	12	14	8	7	1	1	1	1	0	0	1	2	1	1	1	1	0	4	6	1	0	4	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393													T	97868537	C	T	97868537	3	4	415	1	0	0	0	0	1	0	0	0	11236	893	31	1	310	1	OR5H14	3	97868537	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	45328827	97868537	100153893	18	41632											
CD2AP	23607	broad.mit.edu	37	chr6	47575765	47575765	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atacatgctactctccaaagGtgaggtgcattgtggtctaa	11	12	10	8	0	2	1	0	1	2	0	3	1	2	1	1	3	4	2	1	3	4	4			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr6:47575765G>A	ENST00000359314.5	+	15	2088		c.e15+1		CD2AP_ENST00000486693.1_Splice_Site	NM_012120.2	NP_036252.1	Q9Y5K6	CD2AP_HUMAN	CD2-associated protein						cell division|mitosis|protein complex assembly|signal transduction|substrate-dependent cell migration, cell extension	cytoplasm|filamentous actin|nucleolus|plasma membrane|ruffle	SH3 domain binding|structural constituent of cytoskeleton			kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	20			Lung(136;0.105)|LUSC - Lung squamous cell carcinoma(51;0.138)			CTCTCCAAAGGTGAGGTGCAT	0.383													A	47575765	G	A	47575765	5	1	415	1	0	0	0	0	0	0	1	0	3024	1275	44	2	1691	2	CD2AP	6	47575765	Splice_Site	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		47575765	123539302	19	41633											
KCNV2	169522	broad.mit.edu	37	chr9	2718275	2718275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgacgggctgtgtccgcGccgcttcctggaggagctgg	3	8	17	13	5	0	0	0	0	0	0	3	3	2	2	3	4	1	4	3	4	0	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:2718275G>A	ENST00000382082.3	+	1	774	c.536G>A	c.(535-537)cGc>cAc	p.R179H		NM_133497.3	NP_598004.1	Q8TDN2	KCNV2_HUMAN	potassium channel, subfamily V, member 2	179						voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	35				GBM - Glioblastoma multiforme(50;0.0257)		CTGTGTCCGCGCCGCTTCCTG	0.647													A	2718275	G	A	2718275	3	1	415	1	0	0	0	0	1	0	0	0	8153	1087	38	1	538	1	KCNV2	9	2718275	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		2718275	138495156	20	41634											
CACNA1B	774	broad.mit.edu	37	chr9	140946556	140946556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccttctagaggatccaaaggGaaagacatcaataccatcaa	17	7	7	10	0	3	2	2	0	1	2	4	4	4	4	3	2	1	0	3	2	6	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr9:140946556G>A	ENST00000277549.5	+	26	3880	c.1311G>A	c.(1309-1311)ggG>ggA	p.G437G	CACNA1B_ENST00000371363.1_Silent_p.G1241G|CACNA1B_ENST00000277551.2_Silent_p.G1241G|CACNA1B_ENST00000371355.4_Silent_p.G1242G|CACNA1B_ENST00000371357.1_Silent_p.G1242G|CACNA1B_ENST00000371372.1_Silent_p.G1241G			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1241					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	GATCCAAAGGGAAAGACATCA	0.577													A	140946556	G	A	140946556	2	1	415	1	0	0	0	0	0	0	0	1	2565	1161	41	2		2	CACNA1B	9	140946556	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	138228281	140946556	266875	21	41635											
PTER	9317	broad.mit.edu	37	chr10	16547111	16547111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaactacttcattaccAactcggcccagatattgaca	13	11	5	12	1	1	3	1	2	0	1	2	3	1	3	2	1	5	0	2	1	6	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:16547111A>G	ENST00000378000.1	+	5	1037	c.791A>G	c.(790-792)cAa>cGa	p.Q264R	PTER_ENST00000535784.2_Missense_Mutation_p.Q264R|PTER_ENST00000298942.3_Missense_Mutation_p.Q264R|PTER_ENST00000423462.2_Intron	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	264					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						CTTCATTACCAACTCGGCCCA	0.393													G	16547111	A	G	16547111	3	3	415	1	0	0	0	0	1	0	0	0	12824	130	5	3	801	3	PTER	10	16547111	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08		16547111	118987636	22	41636											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508226	37508226	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatactagaggcagaaattGaatcacaccatcctagactg	17	8	7	9	0	1	4	1	1	0	3	2	4	2	4	2	1	1	1	2	1	6	4			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:37508226G>T	ENST00000374660.1	+	40	3874	c.3775G>T	c.(3775-3777)Gaa>Taa	p.E1259*	ANKRD30A_ENST00000361713.1_Nonsense_Mutation_p.E1140*|ANKRD30A_ENST00000602533.1_Nonsense_Mutation_p.E1140*			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1196						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GGCAGAAATTGAATCACACCA	0.393													T	37508226	G	T	37508226	4	4	415	1	0	0	0	0	0	1	0	0	658	1291	45	4	3552	4	ANKRD30A	10	37508226	Nonsense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	20961115	37508226	98026521	23	41637											
ANK3	288	broad.mit.edu	37	chr10	61848084	61848084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtgataatcctgcagatacGctttttccctaactcttctg	8	15	6	12	2	2	2	0	1	2	1	4	2	4	2	2	0	3	2	2	0	3	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:61848084G>A	ENST00000280772.2	-	29	3552	c.3361C>T	c.(3361-3363)Cgt>Tgt	p.R1121C	ANK3_ENST00000503366.1_Missense_Mutation_p.R1122C|ANK3_ENST00000355288.2_Missense_Mutation_p.R255C|ANK3_ENST00000373827.2_Missense_Mutation_p.R1115C	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CTGCAGATACGCTTTTTCCCT	0.398													A	61848084	G	A	61848084	3	1	415	1	0	0	0	0	1	0	0	0	622	1087	38	1	10145	1	ANK3	10	61848084	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	24339858	61848084	73686663	24	41638											
SUFU	51684	broad.mit.edu	37	chr10	104353823	104353823	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcgatccacacctgcaaGtatgtcttgagtgaggaaaa	14	9	10	8	1	1	3	0	2	1	1	3	5	2	4	2	1	1	2	2	1	4	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr10:104353823G>T	ENST00000369902.3	+	6	922		c.e6+1		SUFU_ENST00000369899.2_Splice_Site|SUFU_ENST00000423559.2_Splice_Site|SUFU_ENST00000471000.1_Splice_Site	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)						negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding			breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		ACACCTGCAAGTATGTCTTGA	0.502			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation				T	104353823	G	T	104353823	5	4	415	1	0	0	0	0	0	0	1	0	15464	1043	36	4	779	4	SUFU	10	104353823	Splice_Site	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	42505739	104353823	31180924	25	41639											
MYO7A	4647	broad.mit.edu	37	chr11	76912498	76912498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctctgctctacagcaggcGaggagtcaggcttcctcagc	8	8	11	14	1	4	0	2	0	2	0	5	2	5	1	2	3	4	3	2	3	1	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr11:76912498G>A	ENST00000409709.3	+	36	5130	c.4858G>A	c.(4858-4860)Gag>Aag	p.E1620K	MYO7A_ENST00000458637.2_Missense_Mutation_p.E1582K|MYO7A_ENST00000409619.2_Missense_Mutation_p.E1571K	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1620	SH3.				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						TACAGCAGGCGAGGAGTCAGG	0.567													A	76912498	G	A	76912498	3	1	415	1	0	0	0	0	1	0	0	0	10158	1059	37	1	5030	1	MYO7A	11	76912498	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		76912498	58094018	26	41640											
NCAPD2	9918	broad.mit.edu	37	chr12	6636155	6636155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccacttggagcaggcaGtgagtggagagctctgccgg	7	8	17	9	1	1	2	0	1	1	1	2	4	2	3	2	5	3	3	2	5	0	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:6636155G>C	ENST00000315579.5	+	22	3632	c.2833G>C	c.(2833-2835)Gtg>Ctg	p.V945L	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V900L	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	945					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						GGAGCAGGCAGTGAGTGGAGA	0.592													C	6636155	G	C	6636155	3	2	415	1	0	0	0	0	1	0	0	0	10281	1029	36	4	2915	4	NCAPD2	12	6636155	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		6636155	127215740	27	41641											
NACA	4666	broad.mit.edu	37	chr12	57112865	57112865	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttccaataggagtatcagGgccagcagaacccttcttgg	11	10	10	10	0	2	1	1	0	1	1	3	2	3	2	3	3	2	2	3	3	4	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:57112865G>C	ENST00000454682.1	-	3	2730	c.2449C>G	c.(2449-2451)Cct>Gct	p.P817A	NACA_ENST00000393891.4_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000548563.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						GGAGTATCAGGGCCAGCAGAA	0.458			T	BCL6	NHL								C	57112865	G	C	57112865	3	2	415	1	0	0	0	0	1	0	0	0	10209	1232	43	4	3815	4	NACA	12	57112865	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	50476710	57112865	76739030	28	41642											
NAV3	89795	broad.mit.edu	37	chr12	78415595	78415595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagtcctacaaagatggActtatcatatagtaagactg	15	11	7	8	0	1	2	1	0	0	2	2	3	2	3	2	1	2	1	2	1	7	6			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:78415595A>G	ENST00000397909.2	+	9	2149	c.1976A>G	c.(1975-1977)gAc>gGc	p.D659G	NAV3_ENST00000228327.6_Missense_Mutation_p.D659G|NAV3_ENST00000266692.7_Missense_Mutation_p.D659G|NAV3_ENST00000536525.2_Missense_Mutation_p.D659G			Q8IVL0	NAV3_HUMAN	neuron navigator 3	659						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						ACAAAGATGGACTTATCATAT	0.418										HNSCC(70;0.22)			G	78415595	A	G	78415595	3	3	415	1	0	0	0	0	1	0	0	0	10261	275	10	3	2010	3	NAV3	12	78415595	Missense_Mutation	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	21302730	78415595	55436300	29	41643											
RASSF9	9182	broad.mit.edu	37	chr12	86199245	86199245	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaactaatgtctccatattAtctcgatcatgagaaactgt	13	14	6	8	1	3	2	1	2	2	1	5	4	3	2	1	0	2	0	1	0	5	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:86199245A>G	ENST00000361228.3	-	2	911	c.543T>C	c.(541-543)gaT>gaC	p.D181D		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	181					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTCCATATTATCTCGATCAT	0.373													G	86199245	A	G	86199245	2	3	415	1	0	0	0	0	0	0	0	1	13181	446	16	3		3	RASSF9	12	86199245	Silent	SNP	A	TCGA-DU-A5TS-01A-11D-A289-08	7783650	86199245	47652650	30	41644											
SETD8	387893	broad.mit.edu	37	chr12	123889487	123889487	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccaccaagcagttctcccgGggtgactttgtggtggaata	8	10	13	10	1	1	1	0	1	1	0	2	2	1	2	3	4	1	2	3	4	3	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:123889487G>A	ENST00000402868.3	+	7	1140	c.714G>A	c.(712-714)cgG>cgA	p.R238R	SETD8_ENST00000330479.4_Silent_p.R238R			Q9NQR1	SETD8_HUMAN	SET domain containing (lysine methyltransferase) 8	279					cell division|mitosis|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine monomethylation|regulation of DNA damage response, signal transduction by p53 class mediator|transcription, DNA-dependent	chromosome|nucleus	histone-lysine N-methyltransferase activity|p53 binding|transcription corepressor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|urinary_tract(1)	13	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.00101)|Epithelial(86;0.00425)		AGTTCTCCCGGGGTGACTTTG	0.547													A	123889487	G	A	123889487	2	1	415	1	0	0	0	0	0	0	0	1	14230	1219	43	2		2	SETD8	12	123889487	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	37690242	123889487	9962408	31	41645											
ULK1	8408	broad.mit.edu	37	chr12	132392064	132392064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaacggtggggacctggccGactacctgcacggtgagtgc	7	6	16	12	3	0	1	0	1	0	0	0	3	0	2	3	5	4	2	3	5	2	1			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr12:132392064G>A	ENST00000321867.4	+	5	655	c.304G>A	c.(304-306)Gac>Aac	p.D102N		NM_003565.2	NP_003556	O75385	ULK1_HUMAN	unc-51 like autophagy activating kinase 1	102	Protein kinase.				autophagy|protein localization|regulation of autophagy	autophagic vacuole|cytosol|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	ATP binding|protein complex binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	29	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.07e-08)|Epithelial(86;2.56e-07)|all cancers(50;3.01e-07)		GGACCTGGCCGACTACCTGCA	0.711													A	132392064	G	A	132392064	3	1	415	1	0	0	0	0	1	0	0	0	17077	1058	37	1	322	1	ULK1	12	132392064	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	8502577	132392064	1459831	32	41646											
RXFP2	122042	broad.mit.edu	37	chr13	32360543	32360543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtctagcaatacgataaCggaactatcacctcaccttt	12	12	5	12	2	4	0	2	0	2	0	4	2	4	1	2	1	4	1	2	1	6	5			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr13:32360543C>T	ENST00000298386.2	+	12	1024	c.953C>T	c.(952-954)aCg>aTg	p.T318M	RXFP2_ENST00000380314.1_Missense_Mutation_p.T294M	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	318						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		AATACGATAACGGAACTATCA	0.358													T	32360543	C	T	32360543	3	4	415	1	0	0	0	0	1	0	0	0	13851	536	19	1	999	1	RXFP2	13	32360543	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		32360543	82809335	33	41647											
PNP	4860	broad.mit.edu	37	chr14	20940627	20940627	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaaatccccaactttcccCgaagtacaggtactggcaag	12	8	9	12	1	0	1	0	1	0	0	2	2	2	1	4	2	3	3	4	2	6	3	rs104894460		TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr14:20940627C>T	ENST00000361505.5	+	2	318	c.172C>T	c.(172-174)Cga>Tga	p.R58*		NM_000270.3	NP_000261.2	P00491	PNPH_HUMAN	purine nucleoside phosphorylase	58					immune response|inosine catabolic process|interleukin-2 secretion|NAD biosynthesis via nicotinamide riboside salvage pathway|nicotinamide riboside catabolic process|positive regulation of alpha-beta T cell differentiation|positive regulation of T cell proliferation|purine base metabolic process|purine nucleotide catabolic process|purine-containing compound salvage|response to drug|urate biosynthetic process	cytoskeleton|cytosol	drug binding|nucleoside binding|phosphate binding|purine base binding|purine-nucleoside phosphorylase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(2)	10					Aciclovir(DB00787)|Cladribine(DB00242)|Mercaptopurine(DB01033)	CAACTTTCCCCGAAGTACAGG	0.468													T	20940627	C	T	20940627	4	4	415	1	0	0	0	0	0	1	0	0	12240	644	23	1	178	1	PNP	14	20940627	Nonsense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		20940627	86408913	34	41648											
ZG16B	124220	broad.mit.edu	37	chr16	2881941	2881941	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggggtatggtcatgtaCaccagcaaggaccgctattt	9	10	11	11	2	1	0	1	0	0	0	2	1	2	1	3	4	2	4	3	4	4	4			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:2881941C>A	ENST00000382280.3	+	4	487	c.408C>A	c.(406-408)taC>taA	p.Y136*	ZG16B_ENST00000572863.1_Nonsense_Mutation_p.Y106*	NM_145252.2	NP_660295.2	Q96DA0	ZG16B_HUMAN	zymogen granule protein 16B	136						extracellular region	sugar binding			central_nervous_system(1)|lung(2)|ovary(1)|prostate(1)	5						TGGTCATGTACACCAGCAAGG	0.547													A	2881941	C	A	2881941	4	1	415	1	0	0	0	0	0	1	0	0	17773	489	17	4	422	4	ZG16B	16	2881941	Nonsense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		2881941	87472812	35	41649											
CNGB1	1258	broad.mit.edu	37	chr16	58001075	58001075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcaggattcggttctGgttccacctccgcctccatc	4	12	7	18	2	2	0	1	0	1	0	8	1	6	1	7	3	0	2	7	3	0	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:58001075G>T	ENST00000564448.1	-	2	176	c.116C>A	c.(115-117)cCa>cAa	p.P39Q	CNGB1_ENST00000251102.8_Missense_Mutation_p.P39Q|CNGB1_ENST00000311183.4_Missense_Mutation_p.P39Q			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	39	Glu-rich.				sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						ATTCGGTTCTGGTTCCACCTC	0.642													T	58001075	G	T	58001075	3	4	415	1	0	0	0	0	1	0	0	0	3631	1348	47	4	3797	4	CNGB1	16	58001075	Missense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08	55119134	58001075	32353678	36	41650											
ANKRD11	29123	broad.mit.edu	37	chr16	89357057	89357057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaagtccttgacgttgacgtCtgccccctcgctgatgagct	6	11	11	13	3	1	4	0	4	1	0	3	5	2	4	3	0	2	3	3	0	1	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357057C>T	ENST00000301030.4	-	6	1037	c.577G>A	c.(577-579)Gac>Aac	p.D193N	ANKRD11_ENST00000378330.2_Missense_Mutation_p.D193N	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	193						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		ACGTTGACGTCTGCCCCCTCG	0.652													T	89357057	C	T	89357057	3	4	415	1	0	0	0	0	1	0	0	0	639	913	32	2	7446	2	ANKRD11	16	89357057	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	31355982	89357057	997696	37	41651											
ANKRD11	29123	broad.mit.edu	37	chr16	89357151	89357151	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacgctcgtttctcttgttCactttatctttggtttttga	4	21	6	10	2	3	1	1	1	2	0	5	1	3	1	1	1	0	4	1	1	1	8			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr16:89357151C>T	ENST00000301030.4	-	6	943	c.483G>A	c.(481-483)gtG>gtA	p.V161V	ANKRD11_ENST00000378330.2_Silent_p.V161V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	161						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTCTTGTTCACTTTATCTT	0.592													T	89357151	C	T	89357151	2	4	415	1	0	0	0	0	0	0	0	1	639	813	29	2		2	ANKRD11	16	89357151	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	94	89357151	997602	38	41652											
ACLY	47	broad.mit.edu	37	chr17	40065858	40065858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcagcttctgggccttGgcgtccacatcacccacgtc	8	8	9	16	2	2	0	1	0	1	0	4	0	3	0	3	2	2	2	3	2	1	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:40065858G>A	ENST00000352035.2	-	5	571	c.441C>T	c.(439-441)gcC>gcT	p.A147A	ACLY_ENST00000393896.2_Silent_p.A147A|ACLY_ENST00000590151.1_Silent_p.A147A|ACLY_ENST00000537919.1_Intron|ACLY_ENST00000353196.1_Silent_p.A147A	NM_001096.2	NP_001087.2	P53396	ACLY_HUMAN	ATP citrate lyase	147					ATP catabolic process|cellular carbohydrate metabolic process|citrate metabolic process|coenzyme A metabolic process|energy reserve metabolic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	citrate lyase complex|cytosol|nucleus	ATP binding|ATP citrate synthase activity|citrate (pro-3S)-lyase activity|metal ion binding|protein binding|succinate-CoA ligase (ADP-forming) activity		NTN1/ACLY(2)	breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(4)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	28		Breast(137;0.000143)				TCTGGGCCTTGGCGTCCACAT	0.547													A	40065858	G	A	40065858	2	1	415	1	0	0	0	0	0	0	0	1	143	1335	47	2		2	ACLY	17	40065858	Silent	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		40065858	41129352	39	41653											
CASKIN2	57513	broad.mit.edu	37	chr17	73498548	73498548	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgcttggggggcgggggCggggggcctttgcgccgggc	1	5	25	10	5	0	0	0	0	0	0	0	0	0	0	2	10	1	1	2	10	0	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr17:73498548C>G	ENST00000321617.3	-	18	3193	c.2607G>C	c.(2605-2607)ccG>ccC	p.P869P	CASKIN2_ENST00000433559.2_Silent_p.P787P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	869	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			ggggcgggggcggggggccTT	0.726													G	73498548	C	G	73498548	2	3	415	1	0	0	0	0	0	0	0	1	2693	755	27	4		4	CASKIN2	17	73498548	Silent	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	33432690	73498548	7696662	40	41654											
DSC1	1823	broad.mit.edu	37	chr18	28739449	28739449	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cctgaagatgagaaggaactCgaagataaactttctgacaa	17	8	9	7	1	1	5	0	3	1	3	2	8	1	6	1	1	2	0	1	1	7	2			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr18:28739449C>G	ENST00000257197.3	-	2	368	c.107G>C	c.(106-108)cGa>cCa	p.R36P	DSC1_ENST00000257198.5_Missense_Mutation_p.R36P|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	36					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AGAAGGAACTCGAAGATAAAC	0.338													G	28739449	C	G	28739449	3	3	415	1	0	0	0	0	1	0	0	0	4804	884	31	4	2677	4	DSC1	18	28739449	Missense_Mutation	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08		28739449	49337799	41	41655											
SCN1B	6324	broad.mit.edu	37	chr19	35524708	35524708	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccagatggagggacagatgGcaggcagtggacaggacagg	12	3	19	7	0	0	2	0	0	0	2	0	6	0	6	1	7	0	2	1	7	0	0			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:35524708G>A	ENST00000415950.3	+	3	513	c.513G>A	c.(511-513)tgG>tgA	p.W171*	SCN1B_ENST00000595652.1_Intron|SCN1B_ENST00000596348.1_Intron|SCN1B_ENST00000262631.5_Intron	NM_199037.3	NP_950238.1	Q07699	SCN1B_HUMAN	sodium channel, voltage-gated, type I, beta subunit	49					axon guidance|synaptic transmission	integral to membrane	voltage-gated sodium channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)	11	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGACAGATGGCAGGCAGTGG	0.647													A	35524708	G	A	35524708	4	1	415	1	0	0	0	0	0	1	0	0	14008	1212	42	2	523	2	SCN1B	19	35524708	Nonsense_Mutation	SNP	G	TCGA-DU-A5TS-01A-11D-A289-08		35524708	23604275	42	41656											
NLRP13	126204	broad.mit.edu	37	chr19	56421928	56421928	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctggcgtctcacacttaCgtcagtttctggactttgca	6	14	9	12	2	3	0	2	0	2	0	4	1	3	1	0	2	3	3	0	2	1	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr19:56421928C>T	ENST00000588751.1	-	6	2307		c.e6+1		NLRP13_ENST00000342929.3_Splice_Site			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13								ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		CTCACACTTACGTCAGTTTCT	0.458													T	56421928	C	T	56421928	5	4	415	1	0	0	0	0	0	0	1	0	10551	550	19	1	870	1	NLRP13	19	56421928	Splice_Site	SNP	C	TCGA-DU-A5TS-01A-11D-A289-08	20897220	56421928	2707055	43	41657											
LRRC3	81543	broad.mit.edu	37	chr21	45876675	45876675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggctgtggctgtcttcTgcagcttgcggggccttcag	3	11	16	11	1	3	0	1	0	2	0	3	0	3	0	1	5	3	4	1	5	0	3			TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chr21:45876675T>C	ENST00000291592.4	+	2	465	c.148T>C	c.(148-150)Tgc>Cgc	p.C50R		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	50	LRRNT.					integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCTGTCTTCTGCAGCTTGCG	0.677													C	45876675	T	C	45876675	3	2	415	1	0	0	0	0	1	0	0	0	9054	1580	55	3	150	3	LRRC3	21	45876675	Missense_Mutation	SNP	T	TCGA-DU-A5TS-01A-11D-A289-08		45876675	2253220	44	41658											
ATRX	546	broad.mit.edu	37	chrX	76938084	76938085	+	Frame_Shift_Ins	INS	-	-	A																															ctgtgccttctgctgaagagINSaaagtctctctctcttgttt																										TCGA-DU-A5TS-01A-11D-A289-08	TCGA-DU-A5TS-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3696edf-3956-4285-bfdc-6f273fe969da	e1fa7dc9-6e6e-4502-a676-cd96ea6ebe59	g.chrX:76938084_76938085insA	ENST00000373344.5	-	9	2877_2878	c.2663_2664insT	c.(2662-2664)ttcfs	p.F888fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F850fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	888					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)	CTGCTGAAGAGAAAGTCTCTCT	0.421			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938085	-	A	76938084	7	5	415	1	0	1	1	0	0	0	0	0	1213	933	33	0	4922	0	ATRX	23	76938084	Frame_Shift_Ins	INS	-	TCGA-DU-A5TS-01A-11D-A289-08		76938084	78332476	45	41659											
PLEKHG5	57449	broad.mit.edu	37	chr1	6534096	6534096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccaggctctcccggcGgctctgggcgtccacacgct	4	8	13	16	4	2	0	0	0	2	0	5	1	4	0	3	4	0	3	3	4	0	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:6534096G>A	ENST00000377748.1	-	8	1296	c.799C>T	c.(799-801)Cgc>Tgc	p.R267C	PLEKHG5_ENST00000400913.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000535355.1_Missense_Mutation_p.R259C|PLEKHG5_ENST00000340850.5_Missense_Mutation_p.R190C|PLEKHG5_ENST00000400915.3_Missense_Mutation_p.R246C|PLEKHG5_ENST00000544978.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000537245.1_Missense_Mutation_p.R269C|PLEKHG5_ENST00000377740.3_Missense_Mutation_p.R267C|PLEKHG5_ENST00000377732.1_Missense_Mutation_p.R227C|PLEKHG5_ENST00000377725.1_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377728.3_Missense_Mutation_p.R190C|PLEKHG5_ENST00000377737.2_Missense_Mutation_p.R190C	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5	246					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CTCTCCCGGCGGCTCTGGGCG	0.701													A	6534096	G	A	6534096	3	1	416	1	0	0	0	0	1	0	0	0	12150	1116	39	1	2512	1	PLEKHG5	1	6534096	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		6534096	242716525	1	41660											
IL22RA1	58985	broad.mit.edu	37	chr1	24463673	24463673	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggctgaccggcctccCgcactgacagcggtgaccct	5	8	13	15	3	0	3	0	3	0	0	1	3	1	3	4	4	1	2	4	4	0	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:24463673C>T	ENST00000270800.1	-	3	341	c.303G>A	c.(301-303)gcG>gcA	p.A101A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	101	Fibronectin type-III 1.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ACCGGCCTCCCGCACTGACAG	0.612													T	24463673	C	T	24463673	2	4	416	1	0	0	0	0	0	0	0	1	7731	639	23	1		1	IL22RA1	1	24463673	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	17929577	24463673	224786948	2	41661											
PTAFR	5724	broad.mit.edu	37	chr1	28477144	28477144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagagatgccacgcttgcggGtgttggcctgagcagtcttg	7	10	15	9	2	1	2	0	1	1	1	1	3	1	2	2	2	3	3	2	2	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:28477144G>A	ENST00000373857.3	-	2	1023	c.389C>T	c.(388-390)aCc>aTc	p.T130I	PTAFR_ENST00000539896.1_Missense_Mutation_p.T130I|PTAFR_ENST00000305392.3_Missense_Mutation_p.T130I	NM_000952.4|NM_001164722.2|NM_001164723.2	NP_000943.1|NP_001158194.1|NP_001158195.1	P25105	PTAFR_HUMAN	platelet-activating factor receptor	130					chemotaxis|inflammatory response|interferon-gamma-mediated signaling pathway|phosphatidylinositol-mediated signaling	integral to plasma membrane|nucleus	phospholipid binding|platelet activating factor receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|stomach(1)	15		Colorectal(325;0.000147)|Renal(390;0.00357)|Lung NSC(340;0.00715)|all_lung(284;0.00732)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0545)|all_neural(195;0.0557)		UCEC - Uterine corpus endometrioid carcinoma (279;0.215)|OV - Ovarian serous cystadenocarcinoma(117;6e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|STAD - Stomach adenocarcinoma(196;0.00678)|READ - Rectum adenocarcinoma(331;0.0649)		ACGCTTGCGGGTGTTGGCCTG	0.557													A	28477144	G	A	28477144	3	1	416	1	0	0	0	0	1	0	0	0	12808	1261	44	2	643	2	PTAFR	1	28477144	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	4013471	28477144	220773477	3	41662											
OR10R2	343406	broad.mit.edu	37	chr1	158449814	158449814	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcagctggccctctttgtAgtttttctttttctgtatct	4	22	6	9	0	5	0	1	0	4	0	5	0	5	0	1	1	1	4	1	1	2	8			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:158449814A>G	ENST00000368152.1	+	1	147	c.147A>G	c.(145-147)gtA>gtG	p.V49V	RP11-144L1.4_ENST00000419738.1_RNA|RP11-144L1.4_ENST00000426251.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CCCTCTTTGTAGTTTTTCTTT	0.448													G	158449814	A	G	158449814	2	3	416	1	0	0	0	0	0	0	0	1	10993	407	15	3		3	OR10R2	1	158449814	Silent	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	129972670	158449814	90800807	4	41663											
FAM129A	116496	broad.mit.edu	37	chr1	184764460	184764460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcctctcctgggagctccCcctccatgggccccaggggc	4	6	13	18	0	1	0	0	0	1	0	4	1	3	1	7	5	1	1	7	5	0	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:184764460C>T	ENST00000367511.3	-	14	2631	c.2438G>A	c.(2437-2439)gGg>gAg	p.G813E	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	813	Glu-rich.				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						TGGGAGCTCCCCCTCCATGGG	0.657													T	184764460	C	T	184764460	3	4	416	1	0	0	0	0	1	0	0	0	5481	623	22	2	352	2	FAM129A	1	184764460	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	26314646	184764460	64486161	5	41664											
NFASC	23114	broad.mit.edu	37	chr1	204946828	204946828	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgatcaggccactccaacTaaccgtttggctgccctgcc	7	9	9	16	1	1	1	1	1	0	0	2	1	2	1	5	2	4	3	5	2	2	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:204946828T>A	ENST00000367172.4	+	17	2179	c.1851T>A	c.(1849-1851)acT>acA	p.T617T	NFASC_ENST00000367171.4_Intron|NFASC_ENST00000360049.4_Intron|NFASC_ENST00000539706.1_Intron|NFASC_ENST00000367169.4_Silent_p.T617T|NFASC_ENST00000513543.1_Intron|NFASC_ENST00000338515.6_Silent_p.T617T|NFASC_ENST00000401399.1_Silent_p.T617T|NFASC_ENST00000404076.1_Intron|NFASC_ENST00000367170.4_Silent_p.T617T|NFASC_ENST00000404907.1_Intron|NFASC_ENST00000338586.6_Silent_p.T617T|NFASC_ENST00000339876.6_Silent_p.T617T			O94856	NFASC_HUMAN	neurofascin	617					axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CCACTCCAACTAACCGTTTGG	0.547													A	204946828	T	A	204946828	2	1	416	1	0	0	0	0	0	0	0	1	10435	1509	53	5		5	NFASC	1	204946828	Silent	SNP	T	TCGA-DU-A5TT-01A-11D-A289-08	20182368	204946828	44303793	6	41665											
TRAF3IP3	80342	broad.mit.edu	37	chr1	209952737	209952737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtcagcaaatttattacCacaaattctaagatattgct	16	13	5	7	0	2	1	1	0	1	1	2	1	2	1	1	1	3	2	1	1	7	7			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr1:209952737C>T	ENST00000367023.1	+	7	801	c.538C>T	c.(538-540)Cac>Tac	p.H180Y	TRAF3IP3_ENST00000400959.3_Intron|TRAF3IP3_ENST00000367024.1_Intron|TRAF3IP3_ENST00000367025.3_Intron|TRAF3IP3_ENST00000477431.1_Intron|TRAF3IP3_ENST00000367026.3_Intron|TRAF3IP3_ENST00000010338.4_Intron			Q9Y228	T3JAM_HUMAN	TRAF3 interacting protein 3	0						integral to membrane	protein binding			breast(2)|endometrium(1)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32				OV - Ovarian serous cystadenocarcinoma(81;0.045)		AATTTATTACCACAAATTCTA	0.423													T	209952737	C	T	209952737	3	4	416	1	0	0	0	0	1	0	0	0	16543	609	21	2		2	TRAF3IP3	1	209952737	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	5005909	209952737	39297884	7	41666											
DHX30	22907	broad.mit.edu	37	chr3	47891524	47891524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttccccccagcgtacaggagGagcacgggcagctgcttgcg	7	6	14	14	3	0	0	0	0	0	0	1	2	1	2	3	3	6	5	3	3	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:47891524G>C	ENST00000446256.2	+	23	3954	c.3382G>C	c.(3382-3384)Gag>Cag	p.E1128Q	DHX30_ENST00000348968.4_Missense_Mutation_p.E1139Q|DHX30_ENST00000445061.1_Missense_Mutation_p.E1167Q|DHX30_ENST00000457607.1_Missense_Mutation_p.E1195Q	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	1167						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CGTACAGGAGGAGCACGGGCA	0.672											OREG0015550	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	47891524	G	C	47891524	3	2	416	1	0	0	0	0	1	0	0	0	4543	1175	41	4	3588	4	DHX30	3	47891524	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		47891524	150130906	8	41667											
IFRD2	7866	broad.mit.edu	37	chr3	50327154	50327154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctcacctggatgtcagCggcagccacgtagcagccca	9	5	10	17	2	2	0	2	0	0	0	2	1	2	1	5	2	4	3	5	2	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:50327154C>T	ENST00000436390.1	-	9	1083	c.586G>A	c.(586-588)Gct>Act	p.A196T	IFRD2_ENST00000417626.2_Missense_Mutation_p.A196T|IFRD2_ENST00000429673.2_Missense_Mutation_p.A260T|IFRD2_ENST00000336089.4_Missense_Mutation_p.A362T			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	260							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TGGATGTCAGCGGCAGCCACG	0.617													T	50327154	C	T	50327154	3	4	416	1	0	0	0	0	1	0	0	0	7612	768	27	1	770	1	IFRD2	3	50327154	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	2435630	50327154	147695276	9	41668											
KCNAB1	7881	broad.mit.edu	37	chr3	155838415	155838415	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacgatgctggcagcccgGacaggggcagcggggagtca	8	4	17	12	3	1	0	1	0	0	0	2	3	2	2	2	6	3	3	2	6	0	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:155838415G>T	ENST00000490337.1	+	1	79	c.15G>T	c.(13-15)cgG>cgT	p.R5R	KCNAB1_ENST00000389636.5_Silent_p.R5R	NM_172160.2	NP_751892.1	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	5						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TGGCAGCCCGGACAGGGGCAG	0.502													T	155838415	G	T	155838415	2	4	416	1	0	0	0	0	0	0	0	1	8067	1161	41	4		4	KCNAB1	3	155838415	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	105511261	155838415	42184015	10	41669											
PIK3CA	5290	broad.mit.edu	37	chr3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaggcaaccgtgaagaaAagatcctcaatcgagaaatt	17	7	9	8	2	1	4	1	1	0	3	3	5	2	4	2	1	1	2	2	1	7	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916944	A	G	178916944	3	3	416	1	0	0	0	0	1	0	0	0	11990	15	1	3	333	3	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	23078529	178916944	19105486	11	41670											
PIK3CA	5290	broad.mit.edu	37	chr3	178936094	178936094	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctctctgaaatcactgagCaggagaaagattttctatgg	12	12	9	8	0	4	4	1	2	3	2	5	5	4	4	0	2	1	1	0	2	3	3	rs121913286		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr3:178936094C>G	ENST00000263967.3	+	10	1793	c.1636C>G	c.(1636-1638)Cag>Gag	p.Q546E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546K(89)|p.Q546E(12)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCACTGAGCAGGAGAAAGA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178936094	C	G	178936094	3	3	416	1	0	0	0	0	1	0	0	0	11990	711	25	4	1670	4	PIK3CA	3	178936094	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	19150	178936094	19086336	12	41671											
LIMCH1	22998	broad.mit.edu	37	chr4	41682066	41682066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgaaagaagagtgggAaaaggcccaaaaggaggtgg	17	3	16	5	0	0	3	0	1	0	2	0	5	0	5	1	5	1	1	1	5	7	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:41682066A>G	ENST00000313860.7	+	19	2465	c.2411A>G	c.(2410-2412)gAa>gGa	p.E804G	LIMCH1_ENST00000509277.1_Missense_Mutation_p.E637G|LIMCH1_ENST00000513024.1_Missense_Mutation_p.E657G|LIMCH1_ENST00000381753.4_Missense_Mutation_p.E637G|LIMCH1_ENST00000503057.1_Missense_Mutation_p.E1188G|LIMCH1_ENST00000508501.1_Missense_Mutation_p.E803G|LIMCH1_ENST00000396595.3_Missense_Mutation_p.E649G|LIMCH1_ENST00000511496.1_Missense_Mutation_p.E644G|LIMCH1_ENST00000512946.1_Missense_Mutation_p.E804G|LIMCH1_ENST00000512820.1_Missense_Mutation_p.E816G|LIMCH1_ENST00000514096.1_Missense_Mutation_p.E644G|LIMCH1_ENST00000512632.1_Missense_Mutation_p.E727G	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	804	Glu-rich.				actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						GAAGAGTGGGAAAAGGCCCAA	0.448													G	41682066	A	G	41682066	3	3	416	1	0	0	0	0	1	0	0	0	8857	246	9	3	2513	3	LIMCH1	4	41682066	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08		41682066	149472210	13	41672											
UGT2B10	7365	broad.mit.edu	37	chr4	69688108	69688108	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaacagcccttgccaaGatcccacaaaaggtaagata	16	7	7	11	0	0	2	0	0	0	2	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:69688108G>T	ENST00000265403.7	+	3	1014	c.987G>T	c.(985-987)aaG>aaT	p.K329N	UGT2B10_ENST00000458688.2_Missense_Mutation_p.K245N	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	329					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						CCCTTGCCAAGATCCCACAAA	0.413													T	69688108	G	T	69688108	3	4	416	1	0	0	0	0	1	0	0	0	17058	933	33	4	997	4	UGT2B10	4	69688108	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	28006042	69688108	121466168	14	41673											
TLR2	7097	broad.mit.edu	37	chr4	154625007	154625007	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaacgttaacaatccggagGctgcatattccaaggtttta	13	11	9	8	2	0	0	0	0	0	0	2	2	2	1	2	3	3	4	2	3	6	5			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr4:154625007G>T	ENST00000260010.6	+	1	2356	c.948G>T	c.(946-948)agG>agT	p.R316S		NM_003264.3	NP_003255.2	O60603	TLR2_HUMAN	toll-like receptor 2	316					cellular response to diacyl bacterial lipopeptide|cellular response to lipoteichoic acid|cellular response to triacyl bacterial lipopeptide|detection of diacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|I-kappaB phosphorylation|induction of apoptosis|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of interferon-beta production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of Wnt receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytoplasm|integral to plasma membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	Gram-positive bacterial cell surface binding|lipopolysaccharide receptor activity|peptidoglycan binding|protein heterodimerization activity|transmembrane receptor activity|triacyl lipopeptide binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	29	all_hematologic(180;0.093)	Renal(120;0.117)				CAATCCGGAGGCTGCATATTC	0.338													T	154625007	G	T	154625007	3	4	416	1	0	0	0	0	1	0	0	0	16051	1194	42	4	950	4	TLR2	4	154625007	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	84936899	154625007	36529269	15	41674											
CETN3	1070	broad.mit.edu	37	chr5	89701540	89701540	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaggtgattttccctgtgGcttctctgtcataatcttta	8	17	7	9	0	3	1	1	1	2	0	5	1	4	1	1	2	0	1	1	2	3	6			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:89701540G>T	ENST00000283122.3	-	3	354	c.230C>A	c.(229-231)gCc>gAc	p.A77D	CETN3_ENST00000522864.1_Missense_Mutation_p.A77D|CETN3_ENST00000522842.1_Missense_Mutation_p.A77D|CETN3_ENST00000522565.1_Missense_Mutation_p.A77D|CETN3_ENST00000522083.1_Missense_Mutation_p.A77D	NM_004365.2	NP_004356.2	O15182	CETN3_HUMAN	centrin, EF-hand protein, 3	77	EF-hand 2.				cell division|centrosome cycle|mitosis	centriole	calcium ion binding			lung(3)	3		all_cancers(142;7.93e-09)|all_epithelial(76;2.13e-11)|Lung NSC(167;2.46e-05)|all_lung(232;3.25e-05)|Ovarian(174;0.00832)|Colorectal(57;0.122)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(54;1.42e-32)|Epithelial(54;1.45e-26)|all cancers(79;2.87e-23)		TTTCCCTGTGGCTTCTCTGTC	0.343													T	89701540	G	T	89701540	3	4	416	1	0	0	0	0	1	0	0	0	3306	1203	42	4	285	4	CETN3	5	89701540	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		89701540	91213720	16	41675											
KCTD16	57528	broad.mit.edu	37	chr5	143586601	143586601	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaaaaggaagactgaaaagGgaagctgaatacttccagct	18	6	11	6	0	0	3	0	2	0	1	1	6	1	5	1	2	3	2	1	2	8	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr5:143586601G>T	ENST00000507359.3	+	2	1415	c.324G>T	c.(322-324)agG>agT	p.R108S	KCTD16_ENST00000512467.1_Missense_Mutation_p.R108S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16							cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity			large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GACTGAAAAGGGAAGCTGAAT	0.468													T	143586601	G	T	143586601	3	4	416	1	0	0	0	0	1	0	0	0	8161	1223	43	4	326	4	KCTD16	5	143586601	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	53885061	143586601	37328659	17	41676											
ABCC10	89845	broad.mit.edu	37	chr6	43403588	43403588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtgtccttggacCggatccagcttttcctcgac	8	10	10	13	2	0	0	0	0	0	0	4	3	3	2	5	3	1	1	5	3	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:43403588C>T	ENST00000244533.3	+	3	1938	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	ABCC10_ENST00000372530.4_Missense_Mutation_p.R570W	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GTCCTTGGACCGGATCCAGCT	0.567													T	43403588	C	T	43403588	3	4	416	1	0	0	0	0	1	0	0	0	50	643	23	1	1589	1	ABCC10	6	43403588	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		43403588	127711479	18	41677											
MCHR2	84539	broad.mit.edu	37	chr6	100390944	100390944	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ataaaggaagctgcccaaagGcccaaattgatccggatggt	14	7	11	9	1	0	1	0	1	0	0	1	3	1	3	3	4	2	1	3	4	5	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:100390944G>A	ENST00000281806.2	-	4	782	c.468C>T	c.(466-468)ggC>ggT	p.G156G	MCHR2_ENST00000369212.2_Silent_p.G156G	NM_001040179.1	NP_001035269.1	Q969V1	MCHR2_HUMAN	melanin-concentrating hormone receptor 2	156						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	39		all_cancers(76;4.87e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0309)|Colorectal(196;0.069)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		CTGCCCAAAGGCCCAAATTGA	0.468													A	100390944	G	A	100390944	2	1	416	1	0	0	0	0	0	0	0	1	9458	1190	42	2		2	MCHR2	6	100390944	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	56987356	100390944	70724123	19	41678											
EPB41L2	2037	broad.mit.edu	37	chr6	131188677	131188677	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatttctgtcctttgTgaggcatcagaaattgttac	9	15	11	6	0	2	3	1	1	1	2	3	4	3	3	1	2	1	2	1	2	2	4	rs145251245		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr6:131188677T>C	ENST00000337057.3	-	16	2833	c.2652A>G	c.(2650-2652)tcA>tcG	p.S884S	EPB41L2_ENST00000524581.1_Silent_p.S262S|EPB41L2_ENST00000530481.1_Silent_p.S731S|EPB41L2_ENST00000527411.1_Silent_p.S814S|EPB41L2_ENST00000368128.2_Silent_p.S884S|EPB41L2_ENST00000528282.1_Silent_p.S626S|EPB41L2_ENST00000445890.2_Silent_p.S626S|EPB41L2_ENST00000527659.1_Intron|EPB41L2_ENST00000525193.1_Intron|EPB41L2_ENST00000529208.1_Silent_p.S814S|EPB41L2_ENST00000531410.1_Intron|EPB41L2_ENST00000392427.3_Intron|EPB41L2_ENST00000530757.1_Silent_p.S113S|EPB41L2_ENST00000525271.1_Intron	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	884	Carboxyl-terminal (CTD).				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTGTCCTTTGTGAGGCATCAG	0.408													C	131188677	T	C	131188677	2	2	416	1	0	0	0	0	0	0	0	1	5194	1683	59	3		3	EPB41L2	6	131188677	Silent	SNP	T	TCGA-DU-A5TT-01A-11D-A289-08	30797733	131188677	39926390	20	41679											
SDK1	221935	broad.mit.edu	37	chr7	4188979	4188979	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccagtgggtcccgggcagCgacggggcctcccccatccg	4	5	14	18	4	0	0	0	0	0	0	4	1	4	0	6	4	1	1	6	4	0	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:4188979C>A	ENST00000404826.2	+	30	4648	c.4509C>A	c.(4507-4509)agC>agA	p.S1503R	SDK1_ENST00000389531.3_Missense_Mutation_p.S1503R	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1503	Fibronectin type-III 9.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		TCCCGGGCAGCGACGGGGCCT	0.677													A	4188979	C	A	4188979	3	1	416	1	0	0	0	0	1	0	0	0	14061	767	27	4	4627	4	SDK1	7	4188979	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		4188979	154949684	21	41680											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	416	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	51032843	55221822	103916841	22	41681											
REPIN1	29803	broad.mit.edu	37	chr7	150069850	150069850	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctggtgtcgcaccggcGcatccacacgggcgagcggc	7	4	14	16	6	0	0	0	0	0	0	2	1	1	0	3	4	2	2	3	4	1	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr7:150069850G>T	ENST00000397281.2	+	4	2009	c.1520G>T	c.(1519-1521)cGc>cTc	p.R507L	REPIN1_ENST00000540729.1_Missense_Mutation_p.R507L|REPIN1_ENST00000489432.2_Missense_Mutation_p.R564L|REPIN1_ENST00000444957.1_Missense_Mutation_p.R507L|REPIN1_ENST00000479668.1_3'UTR|REPIN1_ENST00000425389.2_Missense_Mutation_p.R507L	NM_013400.3	NP_037532.2	Q9BWE0	REPI1_HUMAN	replication initiator 1	507					DNA replication	nuclear origin of replication recognition complex	DNA binding|zinc ion binding			cervix(2)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	14	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.011)			TCGCACCGGCGCATCCACACG	0.677													T	150069850	G	T	150069850	3	4	416	1	0	0	0	0	1	0	0	0	13315	1087	38	4	1697	4	REPIN1	7	150069850	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	94848028	150069850	9068813	23	41682											
DOCK5	80005	broad.mit.edu	37	chr8	25253106	25253108	+	In_Frame_Del	DEL	CAA	CAA	-																															atcgaaaccatggagctgacCaacgagaggatcagcaactg																										TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr8:25253106_25253108delCAA	ENST00000276440.7	+	45	4619_4621	c.4575_4577delCAA	c.(4573-4578)accaac>acc	p.N1526del		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1526	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		TGGAGCTGACCAACGAGAGGATC	0.562													-	25253108	CAA	-	25253106	7	5	416	1	0	1	0	1	0	0	0	0	4729	581	21	0	4753	0	DOCK5	8	25253106	In_Frame_Del	DEL	CAA	TCGA-DU-A5TT-01A-11D-A289-08		25253106	121110916	24	41683											
MAPK15	225689	broad.mit.edu	37	chr8	144800905	144800906	+	Frame_Shift_Del	DEL	AG	AG	-																															tccccccaggttgcccccccAgccccccacccccgactgca																										TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr8:144800905_144800906delAG	ENST00000395107.4	+	5	298_299	c.298_299delAG	c.(298-300)agcfs	p.S100fs	MAPK15_ENST00000395108.2_Intron|RP11-429J17.5_ENST00000527908.1_RNA|MAPK15_ENST00000338033.4_Intron			Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	95	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TTGCCCCCCCAGCCCCCCACCC	0.698													-	144800906	AG	-	144800905	7	5	416	1	0	1	0	1	0	0	0	0	9352	203	7	0		0	MAPK15	8	144800905	Frame_Shift_Del	DEL	AG	TCGA-DU-A5TT-01A-11D-A289-08	119547799	144800905	1563117	25	41684											
CREB3	10488	broad.mit.edu	37	chr9	35733420	35733422	+	In_Frame_Del	DEL	GAG	GAG	-																															ctaggctagtactgacagatGaggagaagagtctattggag																										TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:35733420_35733422delGAG	ENST00000353704.2	+	4	811_813	c.373_375delGAG	c.(373-375)gagdel	p.E126del	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	150					chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity	p.E125delE(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		ACTGACAGATGAGGAGAAGAGTC	0.493													-	35733422	GAG	-	35733420	7	5	416	1	0	1	0	1	0	0	0	0	3886	1291	45	0	387	0	CREB3	9	35733420	In_Frame_Del	DEL	GAG	TCGA-DU-A5TT-01A-11D-A289-08		35733420	105480011	26	41685											
OR13C8	138802	broad.mit.edu	37	chr9	107331778	107331778	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttgccatgggggccacGgagtgcatgatcttaggcac	7	11	13	10	1	2	1	0	1	2	0	2	2	2	2	2	4	2	2	2	4	1	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:107331778G>A	ENST00000335040.1	+	1	330	c.330G>A	c.(328-330)acG>acA	p.T110T		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TGGGGGCCACGGAGTGCATGA	0.502													A	107331778	G	A	107331778	2	1	416	1	0	0	0	0	0	0	0	1	11014	1103	39	1		1	OR13C8	9	107331778	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	71598358	107331778	33881653	27	41686											
SOHLH1	402381	broad.mit.edu	37	chr9	138590205	138590205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgactgggccccagggcGctggcaagccgcaggaactg	7	5	15	14	2	0	1	0	1	0	0	1	2	1	2	4	4	2	3	4	4	2	0	rs145506287	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr9:138590205G>A	ENST00000298466.5	-	3	375	c.315C>T	c.(313-315)agC>agT	p.S105S	SOHLH1_ENST00000425225.1_Silent_p.S105S	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	105	Helix-loop-helix motif.				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GCCCCAGGGCGCTGGCAAGCC	0.657													A	138590205	G	A	138590205	2	1	416	1	0	0	0	0	0	0	0	1	15017	1078	38	1		1	SOHLH1	9	138590205	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	31258427	138590205	2623226	28	41687											
AKR1C1	1645	broad.mit.edu	37	chr10	5008161	5008161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaattgaagctggcttccGccatattgattctgctcatt	8	14	9	10	1	2	2	1	2	1	0	3	2	3	2	2	2	2	4	2	2	3	6	rs1138575		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr10:5008161G>A	ENST00000380872.4	+	2	332	c.140G>A	c.(139-141)cGc>cAc	p.R47H	AKR1C1_ENST00000380859.1_Missense_Mutation_p.R49H|AKR1C1_ENST00000477661.1_3'UTR|AKR1C1_ENST00000434459.2_Missense_Mutation_p.R47H	NM_001353.5	NP_001344.2			aldo-keto reductase family 1, member C1											breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(2)|ovary(3)|prostate(1)	13						GCTGGCTTCCGCCATATTGAT	0.438													A	5008161	G	A	5008161	3	1	416	1	0	0	0	0	1	0	0	0	469	1087	38	1	146	1	AKR1C1	10	5008161	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		5008161	130526586	29	41688											
SIGIRR	59307	broad.mit.edu	37	chr11	406533	406533	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctttccaaaaatcggaggaAggagtctgggggccaggtcg	10	8	15	8	2	2	0	0	0	2	0	5	3	3	3	2	6	0	0	2	6	3	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:406533A>G	ENST00000431843.2	-	9	1191	c.885T>C	c.(883-885)ccT>ccC	p.P295P	SIGIRR_ENST00000531205.1_Silent_p.P295P|SIGIRR_ENST00000332725.3_Silent_p.P295P|SIGIRR_ENST00000397632.3_Silent_p.P295P|SIGIRR_ENST00000382520.2_Silent_p.P295P	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	295	TIR.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AATCGGAGGAAGGAGTCTGGG	0.652													G	406533	A	G	406533	2	3	416	1	0	0	0	0	0	0	0	1	14398	59	3	3		3	SIGIRR	11	406533	Silent	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08		406533	134599983	30	41689											
USH1C	10083	broad.mit.edu	37	chr11	17531092	17531092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgggtgggaacggatggCgggggagggatgggaatggg	7	7	24	3	2	1	0	0	0	1	0	1	5	1	5	0	9	1	0	0	9	2	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr11:17531092C>T	ENST00000005226.7	-	18	1823	c.1824G>A	c.(1822-1824)ccG>ccA	p.P608P	USH1C_ENST00000318024.4_Intron|USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAACGGATGGCGGGGGAGGGA	0.662													T	17531092	C	T	17531092	2	4	416	1	0	0	0	0	0	0	0	1	17136	755	27	1		1	USH1C	11	17531092	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	17124559	17531092	117475424	31	41690											
CD163L1	283316	broad.mit.edu	37	chr12	7586119	7586119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcacggcttgtccaaaaCgaaacatggcgaaagaaaat	17	7	9	8	3	1	1	1	0	0	1	2	3	2	1	1	2	2	1	1	2	7	2	rs146684411	byFrequency	TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:7586119C>T	ENST00000313599.3	-	3	353	c.296G>A	c.(295-297)cGt>cAt	p.R99H	CD163L1_ENST00000416109.2_Missense_Mutation_p.R99H|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99H			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													T	7586119	C	T	7586119	3	4	416	1	0	0	0	0	1	0	0	0	2998	536	19	1	4133	1	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		7586119	126265776	32	41691											
CLEC9A	283420	broad.mit.edu	37	chr12	10205329	10205329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctcttcagtgggatagcCcagcaccagacacttaccag	10	8	8	15	0	2	1	1	0	1	1	3	2	2	2	4	1	3	1	4	1	2	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:10205329C>T	ENST00000355819.1	+	4	656	c.43C>T	c.(43-45)Cca>Tca	p.P15S	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	15					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GTGGGATAGCCCAGCACCAGA	0.418													T	10205329	C	T	10205329	3	4	416	1	0	0	0	0	1	0	0	0	3553	623	22	2	45	2	CLEC9A	12	10205329	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	2619210	10205329	123646566	33	41692											
PDZRN4	29951	broad.mit.edu	37	chr12	41900316	41900316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcagtggaagcttttcgcaAtgccaaggagcccattgtgg	9	9	14	9	1	0	0	0	0	0	0	1	2	0	2	2	4	3	3	2	4	3	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900316A>G	ENST00000298919.7	+	4	510	c.122A>G	c.(121-123)aAt>aGt	p.N41S	PDZRN4_ENST00000539469.2_Missense_Mutation_p.N43S|PDZRN4_ENST00000402685.2_Missense_Mutation_p.N301S			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	301							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				GCTTTTCGCAATGCCAAGGAG	0.473													G	41900316	A	G	41900316	3	3	416	1	0	0	0	0	1	0	0	0	11786	101	4	3	989	3	PDZRN4	12	41900316	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	31694987	41900316	91951579	34	41693											
PDZRN4	29951	broad.mit.edu	37	chr12	41900459	41900459	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcatggctctggccaagCttcgtccacctacccctcca	8	9	6	18	1	2	0	1	0	1	0	5	0	4	0	6	2	2	2	6	2	2	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:41900459C>G	ENST00000298919.7	+	4	653	c.265C>G	c.(265-267)Ctt>Gtt	p.L89V	PDZRN4_ENST00000539469.2_Missense_Mutation_p.L91V|PDZRN4_ENST00000402685.2_Missense_Mutation_p.L349V			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	349							ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TCTGGCCAAGCTTCGTCCACC	0.488													G	41900459	C	G	41900459	3	3	416	1	0	0	0	0	1	0	0	0	11786	797	28	4	1132	4	PDZRN4	12	41900459	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	143	41900459	91951436	35	41694											
BBS10	79738	broad.mit.edu	37	chr12	76741233	76741233	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttcccactcttccacaaaAgtatgcttctaagagcaact	12	12	4	13	0	3	1	0	0	3	1	5	1	5	1	2	0	3	3	2	0	5	5			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:76741233A>T	ENST00000393262.3	-	2	615	c.532T>A	c.(532-534)Ttt>Att	p.F178I		NM_024685.3	NP_078961.3	Q8TAM1	BBS10_HUMAN	Bardet-Biedl syndrome 10	178					cellular protein metabolic process|nonmotile primary cilium assembly|photoreceptor cell maintenance|response to stimulus|retina homeostasis	cilium	ATP binding			endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)	19						CTTCCACAAAAGTATGCTTCT	0.353									Bardet-Biedl syndrome				T	76741233	A	T	76741233	3	4	416	1	0	0	0	0	1	0	0	0	1341	72	3	5	1643	5	BBS10	12	76741233	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	34840774	76741233	57110662	36	41695											
NAV3	89795	broad.mit.edu	37	chr12	78444669	78444669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgtccgcgacttcaggCgggagatgctccctccctgg	5	8	14	14	3	1	1	1	0	0	1	4	3	4	1	3	4	1	2	3	4	0	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:78444669C>T	ENST00000397909.2	+	11	2431	c.2258C>T	c.(2257-2259)gCg>gTg	p.A753V	NAV3_ENST00000266692.7_Missense_Mutation_p.A753V|NAV3_ENST00000228327.6_Missense_Mutation_p.A753V|NAV3_ENST00000536525.2_Missense_Mutation_p.A753V			Q8IVL0	NAV3_HUMAN	neuron navigator 3	753						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CGACTTCAGGCGGGAGATGCT	0.572										HNSCC(70;0.22)			T	78444669	C	T	78444669	3	4	416	1	0	0	0	0	1	0	0	0	10261	768	27	1	2300	1	NAV3	12	78444669	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1703436	78444669	55407226	37	41696											
MGAT4C	25834	broad.mit.edu	37	chr12	86374058	86374058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctggaccatggcatcaCgccaggaagaattaaagtct	13	9	9	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	5	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr12:86374058C>T	ENST00000604798.1	-	8	1650	c.446G>A	c.(445-447)cGt>cAt	p.R149H	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding	p.R149H(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CATGGCATCACGCCAGGAAGA	0.398													T	86374058	C	T	86374058	3	4	416	1	0	0	0	0	1	0	0	0	9622	536	19	1	994	1	MGAT4C	12	86374058	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	7929389	86374058	47477837	38	41697											
MIA2	117153	broad.mit.edu	37	chr14	39722040	39722040	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagatagtgatgaaaattcGaaaccatcagtagacaccga	19	7	8	7	2	1	4	1	2	0	2	2	6	1	4	2	0	1	1	2	0	6	3			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr14:39722040G>A	ENST00000280082.3	+	5	1855	c.1656G>A	c.(1654-1656)tcG>tcA	p.S552S	RP11-407N17.3_ENST00000553728.1_Intron	NM_054024.3	NP_473365.3	Q96PC5	MIA2_HUMAN	melanoma inhibitory activity 2	161						extracellular region				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	31	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0216)		ATGAAAATTCGAAACCATCAG	0.378													A	39722040	G	A	39722040	2	1	416	1	0	0	0	0	0	0	0	1	9639	1045	37	1		1	MIA2	14	39722040	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		39722040	67627500	39	41698											
SNURF	8926	broad.mit.edu	37	chr15	25213099	25213099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtcagttgtacccgaggcGttctcagcagcagcaagtac	9	9	12	11	2	2	0	2	0	1	0	3	1	2	0	1	1	5	7	1	1	3	4	rs142583293		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:25213099G>A	ENST00000338094.6	+	3	192	c.131G>A	c.(130-132)cGt>cAt	p.R44H	SNRPN_ENST00000577565.1_5'UTR|SNURF_ENST00000577949.1_Missense_Mutation_p.R44H|SNRPN_ENST00000554227.2_5'UTR|SNRPN_ENST00000390687.4_5'UTR|SNRPN_ENST00000400100.1_5'UTR|SNURF_ENST00000551312.2_Missense_Mutation_p.R44H|SNRPN_ENST00000400098.1_5'UTR|SNURF_ENST00000338327.4_Missense_Mutation_p.R44H|SNRPN_ENST00000346403.6_5'UTR|SNRPN_ENST00000553597.1_3'UTR|SNRPN_ENST00000400097.1_5'UTR	NM_003097.3|NM_005678.3	NP_003088.1|NP_005669.2			SNRPN upstream reading frame											breast(2)|large_intestine(2)|lung(1)	5		all_cancers(20;1.4e-21)|Breast(32;0.000625)		all cancers(64;3.48e-07)|Epithelial(43;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0142)		TACCCGAGGCGTTCTCAGCAG	0.413													A	25213099	G	A	25213099	3	1	416	1	0	0	0	0	1	0	0	0	14972	1145	40	1	141	1	SNURF	15	25213099	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		25213099	77318293	40	41699											
MAN2C1	4123	broad.mit.edu	37	chr15	75655059	75655059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagctccgggcacatttcCtcacagtctctttgaagggc	7	10	9	15	1	2	1	1	1	1	0	5	1	4	1	3	2	1	2	3	2	1	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr15:75655059C>T	ENST00000565683.1	-	7	832	c.821G>A	c.(820-822)aGg>aAg	p.R274K	MAN2C1_ENST00000563622.1_Intron|MAN2C1_ENST00000569482.1_Missense_Mutation_p.R274K|MAN2C1_ENST00000563539.1_5'UTR|MAN2C1_ENST00000267978.5_Missense_Mutation_p.R274K	NM_001256494.1	NP_001243423.1	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	274					mannose metabolic process		alpha-mannosidase activity|carbohydrate binding|protein binding|zinc ion binding			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GGCACATTTCCTCACAGTCTC	0.617													T	75655059	C	T	75655059	3	4	416	1	0	0	0	0	1	0	0	0	9293	681	24	2	2381	2	MAN2C1	15	75655059	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	50441960	75655059	26876333	41	41700											
ITGAX	3687	broad.mit.edu	37	chr16	31391362	31391362	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcatctgacttcctggcGcacattcagaagaatcccgt	10	9	8	14	2	2	3	1	1	1	2	4	3	4	3	3	1	1	2	3	1	2	2	rs148941060		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:31391362G>A	ENST00000268296.4	+	26	3157	c.3036G>A	c.(3034-3036)gcG>gcA	p.A1012A	ITGAX_ENST00000562522.1_Silent_p.A1012A	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1012					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						ACTTCCTGGCGCACATTCAGA	0.547													A	31391362	G	A	31391362	2	1	416	1	0	0	0	0	0	0	0	1	7947	1074	38	1		1	ITGAX	16	31391362	Silent	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		31391362	58963391	42	41701											
PHKB	5257	broad.mit.edu	37	chr16	47694709	47694709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaggacaaacccacccaCgaaattcttcaaaaactgaa	18	6	6	11	1	2	1	1	1	1	0	2	4	2	3	2	2	2	0	2	2	6	2	rs17853186		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr16:47694709C>T	ENST00000455779.1	+	23	2339	c.2154C>T	c.(2152-2154)caC>caT	p.H718H	PHKB_ENST00000566044.1_Silent_p.H718H|PHKB_ENST00000299167.8_Silent_p.H725H|PHKB_ENST00000323584.5_Silent_p.H725H			Q93100	KPBB_HUMAN	phosphorylase kinase, beta	725					glucose metabolic process|glycogen catabolic process	cytosol|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				AACCCACCCACGAAATTCTTC	0.478													T	47694709	C	T	47694709	2	4	416	1	0	0	0	0	0	0	0	1	11922	535	19	1		1	PHKB	16	47694709	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	16303347	47694709	42660044	43	41702											
TP53	7157	broad.mit.edu	37	chr17	7578539	7578555	+	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TGAGGGCAGGGGAGTAC	-																															cagttggcaaaacatcttgtTgagggcaggggagtactgta																								rs137852792		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:7578539_7578555delTGAGGGCAGGGGAGTAC	ENST00000420246.2	-	5	508_523	c.376_391delGTACTCCCCTGCCCTCA	c.(376-393)gtactcccctgccctcaa>aa	p.VLPCPQ126fs	TP53_ENST00000455263.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000359597.4_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000445888.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000413465.2_Splice_Site_p.VLPCPQ126fs|TP53_ENST00000269305.4_Splice_Site_p.VLPCPQ126fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	126	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in a familial cancer not matching 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 -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.?(39)|p.S127F(23)|p.L130F(16)|p.Y126*(14)|p.L130V(11)|p.Y126D(9)|p.S127Y(8)|p.N131del(8)|p.N131Y(8)|p.0?(8)|p.L130R(7)|p.S127C(7)|p.P128S(7)|p.S127T(6)|p.S127P(6)|p.Y126_K132delYSPALNK(6)|p.Y126N(6)|p.P128fs*42(5)|p.L130L(4)|p.Y126C(4)|p.L130H(3)|p.L37F(3)|p.Y126_S127insQPHH(3)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.A129fs*41(3)|p.Y33*(2)|p.L130fs*19(2)|p.S34C(2)|p.N131H(2)|p.N131fs*27(2)|p.N131fs*39(2)|p.Y126S(2)|p.Y126fs*44(2)|p.A129V(2)|p.A129T(2)|p.Y33D(2)|p.L130fs*41(2)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.T125_Y126insX(1)|p.Y126Y(1)|p.L130P(1)|p.V73fs*9(1)|p.S127fs*43(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.A129del(1)|p.S34F(1)|p.A36fs*41(1)|p.A129G(1)|p.A129D(1)|p.A36fs*20(1)|p.S34P(1)|p.S127fs*22(1)|p.P13fs*18(1)|p.L130fs*40(1)|p.S127fs*42(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.L130del(1)|p.P128A(1)|p.Y33_S34insQPHH(1)|p.P128del(1)|p.P128P(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)		AACATCTTGTTGAGGGCAGGGGAGTACTGTAGGAAGA	0.548		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)			-	7578555	TGAGGGCAGGGGAGTAC	-	7578539	8	5	416	1	0	1	0	1	0	0	1	0	16482	1812	63	0	907	0	TP53	17	7578539	Splice_Site	DEL	TGAGGGCAGGGGAGTAC	TCGA-DU-A5TT-01A-11D-A289-08		7578539	73616671	44	41703											
MYO15A	51168	broad.mit.edu	37	chr17	18023395	18023395	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaacccgtatgcccaCgccatggatgacatcgccga	10	5	8	18	4	0	1	0	1	0	0	1	3	0	2	6	1	2	1	6	1	2	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:18023395C>T	ENST00000205890.5	+	2	1619	c.1281C>T	c.(1279-1281)caC>caT	p.H427H		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	427	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGTATGCCCACGCCATGGATG	0.667													T	18023395	C	T	18023395	2	4	416	1	0	0	0	0	0	0	0	1	10139	535	19	1		1	MYO15A	17	18023395	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	10444856	18023395	63171815	45	41704											
STAT3	6774	broad.mit.edu	37	chr17	40500443	40500443	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaggggccagaaactgcCgcagctccattgggaagctg	10	6	13	12	1	0	1	0	0	0	1	2	2	2	2	4	3	4	3	4	3	3	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr17:40500443C>T	ENST00000264657.5	-	2	404	c.92G>A	c.(91-93)cGg>cAg	p.R31Q	STAT3_ENST00000404395.3_Missense_Mutation_p.R31Q|STAT3_ENST00000389272.3_Intron|STAT3_ENST00000588969.1_Missense_Mutation_p.R31Q|STAT3_ENST00000585517.1_Missense_Mutation_p.R31Q	NM_003150.3|NM_139276.2	NP_003141.2|NP_644805.1	P40763	STAT3_HUMAN	signal transducer and activator of transcription 3 (acute-phase response factor)	31					cellular component movement|eating behavior|eye photoreceptor cell differentiation|glucose homeostasis|interleukin-6-mediated signaling pathway|interspecies interaction between organisms|JAK-STAT cascade involved in growth hormone signaling pathway|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|protein import into nucleus|response to estradiol stimulus|sexual reproduction|temperature homeostasis	cytosol|nucleus|plasma membrane	calcium ion binding|ligand-regulated transcription factor activity|protein dimerization activity|protein kinase binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		all_cancers(22;1.39e-06)|all_epithelial(22;2.95e-05)|Breast(137;0.000135)		BRCA - Breast invasive adenocarcinoma(366;0.139)		CAGAAACTGCCGCAGCTCCAT	0.483									Hyperimmunoglobulin E Recurrent Infection Syndrome				T	40500443	C	T	40500443	3	4	416	1	0	0	0	0	1	0	0	0	15362	652	23	1	2312	1	STAT3	17	40500443	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	22477048	40500443	40694767	46	41705											
EMR1	2015	broad.mit.edu	37	chr19	6937659	6937659	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgccatccgcttccaagacGgtgagagactgcatgctccc	9	8	10	14	2	0	3	0	1	0	2	3	4	3	3	4	1	3	3	4	1	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:6937659G>A	ENST00000312053.4	+	20	2692	c.2655G>A	c.(2653-2655)acG>acA	p.T885T	EMR1_ENST00000381404.4_Splice_Site_p.T866T|EMR1_ENST00000450315.3_Splice_Site_p.T708T|EMR1_ENST00000381407.5_Splice_Site_p.T744T|EMR1_ENST00000250572.8_Splice_Site_p.T820T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	885					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTCCAAGACGGTGAGAGACT	0.582													A	6937659	G	A	6937659	5	1	416	1	0	0	0	0	0	0	1	0	5145	1130	39	1	2733	1	EMR1	19	6937659	Splice_Site	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		6937659	52191324	47	41706											
CD209	30835	broad.mit.edu	37	chr19	7811372	7811372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggagcccagccaagagcGtgaaggagaggagttgcagc	13	3	16	9	1	0	3	0	1	0	2	0	6	0	5	2	3	5	2	2	3	3	1	rs151250046		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:7811372G>A	ENST00000315599.7	-	3	174	c.152C>T	c.(151-153)aCg>aTg	p.T51M	CD209_ENST00000354397.6_Missense_Mutation_p.T51M|CD209_ENST00000601256.1_Intron|CD209_ENST00000602261.1_Missense_Mutation_p.T51M|CD209_ENST00000315591.8_Intron|CD209_ENST00000593660.1_Intron|CD209_ENST00000204801.8_Intron|CD209_ENST00000394161.5_Missense_Mutation_p.T51M|CD209_ENST00000601951.1_Intron|CD209_ENST00000394173.4_Missense_Mutation_p.T51M|CD209_ENST00000593821.1_Intron|CD209_ENST00000301357.8_Intron	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	51					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						AGCCAAGAGCGTGAAGGAGAG	0.647													A	7811372	G	A	7811372	3	1	416	1	0	0	0	0	1	0	0	0	3014	1145	40	1	1082	1	CD209	19	7811372	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	873713	7811372	51317611	48	41707											
ZNF560	147741	broad.mit.edu	37	chr19	9577542	9577542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgaaagcacatggaatttCgaaaggaatttccacatgcg	15	9	9	8	2	0	1	0	1	0	0	2	4	1	3	1	2	2	1	1	2	4	2	rs148650284		TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:9577542C>T	ENST00000301480.4	-	10	2294	c.2081G>A	c.(2080-2082)cGa>cAa	p.R694Q		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	694					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R694Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CATGGAATTTCGAAAGGAATT	0.378													T	9577542	C	T	9577542	3	4	416	1	0	0	0	0	1	0	0	0	18092	884	31	1	295	1	ZNF560	19	9577542	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1766170	9577542	49551441	49	41708											
PGLYRP2	114770	broad.mit.edu	37	chr19	15586704	15586704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccttggggtccaaaagCgtaaaggtccgaggggcaga	11	6	16	8	2	0	1	0	0	0	1	2	3	2	1	3	5	2	2	3	5	4	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:15586704C>T	ENST00000292609.4	-	2	906	c.777G>A	c.(775-777)acG>acA	p.T259T	PGLYRP2_ENST00000340880.4_Silent_p.T259T			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	259					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T259T(2)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTCCAAAAGCGTAAAGGTCC	0.617													T	15586704	C	T	15586704	2	4	416	1	0	0	0	0	0	0	0	1	11871	755	27	1		1	PGLYRP2	19	15586704	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	6009162	15586704	43542279	50	41709											
SIGLEC6	946	broad.mit.edu	37	chr19	52034027	52034027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgctgtggtcctggggcCgtggggtgattgtgagcacc	3	11	19	8	1	0	2	0	2	0	0	1	2	1	2	3	6	2	2	3	6	0	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:52034027C>T	ENST00000346477.3	-	3	682	c.614G>A	c.(613-615)cGg>cAg	p.R205Q	SIGLEC6_ENST00000425629.3_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.R194Q|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.R205Q|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.R169Q	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	205	Ig-like C2-type 1.			RP -> A (in Ref. 4; AAB70702).	cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GTCCTGGGGCCGTGGGGTGAT	0.637													T	52034027	C	T	52034027	3	4	416	1	0	0	0	0	1	0	0	0	14406	652	23	1	804	1	SIGLEC6	19	52034027	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	36447323	52034027	7094956	51	41710											
ZNF845	91664	broad.mit.edu	37	chr19	53848775	53848775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtctattgacattcaGggatgtggccatagaattct	10	13	11	7	0	4	2	2	1	2	1	4	3	4	3	1	3	0	0	1	3	3	5			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:53848775G>A	ENST00000458035.1	+	3	149	c.32G>A	c.(31-33)aGg>aAg	p.R11K	ZNF845_ENST00000595091.1_Missense_Mutation_p.R11K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN	zinc finger protein 845	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TTGACATTCAGGGATGTGGCC	0.443													A	53848775	G	A	53848775	3	1	416	1	0	0	0	0	1	0	0	0	18290	1000	35	2	38	2	ZNF845	19	53848775	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	1814748	53848775	5280208	52	41711											
LAIR2	3904	broad.mit.edu	37	chr19	55019286	55019286	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtccatctgagtcagaggCcagattccacattgactcag	10	10	10	11	0	3	4	2	2	1	2	5	4	5	4	3	2	0	0	3	2	0	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:55019286C>A	ENST00000301202.2	+	3	373	c.251C>A	c.(250-252)gCc>gAc	p.A84D	LAIR2_ENST00000351841.2_Missense_Mutation_p.A84D	NM_002288.4	NP_002279.2	Q6ISS4	LAIR2_HUMAN	leukocyte-associated immunoglobulin-like receptor 2	84	Ig-like C2-type.					extracellular region	receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)	18	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0967)		GAGTCAGAGGCCAGATTCCAC	0.502													A	55019286	C	A	55019286	3	1	416	1	0	0	0	0	1	0	0	0	8662	739	26	4	261	4	LAIR2	19	55019286	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	1170511	55019286	4109697	53	41712											
ZSCAN18	65982	broad.mit.edu	37	chr19	58601354	58601354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcccaggaactgctccAgcaccagcagctccagcatc	10	5	10	16	0	0	0	0	0	0	0	3	2	2	2	4	2	7	5	4	2	1	0			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr19:58601354A>G	ENST00000240727.6	-	2	680	c.281T>C	c.(280-282)cTg>cCg	p.L94P	ZSCAN18_ENST00000421612.2_Intron|ZSCAN18_ENST00000600404.1_Missense_Mutation_p.L150P|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.L94P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	94	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GAACTGCTCCAGCACCAGCAG	0.677													G	58601354	A	G	58601354	3	3	416	1	0	0	0	0	1	0	0	0	18328	188	7	3	1275	3	ZSCAN18	19	58601354	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	3582068	58601354	527629	54	41713											
CBLN4	140689	broad.mit.edu	37	chr20	54578992	54578992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctcggatggctcgtggttgGtgctccgcaccgccgagaag	5	9	15	12	5	1	1	0	0	1	1	4	3	2	2	3	4	1	4	3	4	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr20:54578992G>T	ENST00000064571.2	-	1	1536	c.236C>A	c.(235-237)aCc>aAc	p.T79N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	79	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			CTCGTGGTTGGTGCTCCGCAC	0.652													T	54578992	G	T	54578992	3	4	416	1	0	0	0	0	1	0	0	0	2733	1261	44	4	381	4	CBLN4	20	54578992	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08		54578992	8446528	55	41714											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000163	46000163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagcaggtgggcaggcagCacacaggcttgcagcagacg	11	4	16	10	1	0	2	0	0	0	2	0	2	0	2	0	4	4	7	0	4	1	2			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46000163C>G	ENST00000400372.1	-	1	318	c.293G>C	c.(292-294)tGc>tCc	p.C98S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	98	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						gggcaggcagcacacaggctt	0.652													G	46000163	C	G	46000163	3	3	416	1	0	0	0	0	1	0	0	0	8570	710	25	4	526	4	KRTAP10-5	21	46000163	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		46000163	2129732	56	41715											
ITGB2	3689	broad.mit.edu	37	chr21	46320364	46320364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcaaacaccagcagccgCgtgacgttgcgccagccgat	9	5	13	14	5	0	1	0	1	0	0	0	2	0	1	4	1	5	3	4	1	1	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chr21:46320364C>T	ENST00000397850.2	-	8	1220	c.768G>A	c.(766-768)acG>acA	p.T256T	ITGB2_ENST00000355153.4_Silent_p.T256T|ITGB2_ENST00000397852.1_Silent_p.T256T|ITGB2_ENST00000397857.1_Silent_p.T256T|ITGB2_ENST00000397854.3_Silent_p.T199T|ITGB2_ENST00000302347.5_Silent_p.T256T			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	256	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CCAGCAGCCGCGTGACGTTGC	0.657													T	46320364	C	T	46320364	2	4	416	1	0	0	0	0	0	0	0	1	7952	755	27	1		1	ITGB2	21	46320364	Silent	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08	320201	46320364	1809531	57	41716											
MAGEB16	139604	broad.mit.edu	37	chrX	35820627	35820627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagaggatacatcagaccCcaggaatgtgcccgcagatg	12	6	11	12	1	2	3	2	0	0	3	2	5	2	5	3	2	2	1	3	2	2	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:35820627C>T	ENST00000399989.1	+	2	593	c.314C>T	c.(313-315)cCc>cTc	p.P105L	MAGEB16_ENST00000399985.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399992.1_Missense_Mutation_p.P137L|MAGEB16_ENST00000399988.1_Missense_Mutation_p.P105L|MAGEB16_ENST00000399987.1_Missense_Mutation_p.P105L	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	105										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						ACATCAGACCCCAGGAATGTG	0.468													T	35820627	C	T	35820627	3	4	416	1	0	0	0	0	1	0	0	0	9249	623	22	2	316	2	MAGEB16	23	35820627	Missense_Mutation	SNP	C	TCGA-DU-A5TT-01A-11D-A289-08		35820627	119449933	58	41717											
RPS6KA6	27330	broad.mit.edu	37	chrX	83319382	83319382	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaaaggtcttgtgagtcAgggcagagtatgttgcaacc	10	11	14	6	0	2	3	1	2	1	1	2	3	2	3	1	2	2	5	1	2	3	4			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:83319382A>G	ENST00000262752.2	-	22	2148	c.2141T>C	c.(2140-2142)cTg>cCg	p.L714P	RPS6KA6_ENST00000543399.1_Missense_Mutation_p.L714P	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	714					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTTGTGAGTCAGGGCAGAGTA	0.418													G	83319382	A	G	83319382	3	3	416	1	0	0	0	0	1	0	0	0	13746	188	7	3	100	3	RPS6KA6	23	83319382	Missense_Mutation	SNP	A	TCGA-DU-A5TT-01A-11D-A289-08	47498755	83319382	71951178	59	41718											
SLITRK4	139065	broad.mit.edu	37	chrX	142717376	142717376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagagattgcaactgatcaaGgaccccactgacaggcaggt	14	6	11	10	0	1	3	1	2	0	1	1	5	1	4	2	3	2	2	2	3	3	1			TCGA-DU-A5TT-01A-11D-A289-08	TCGA-DU-A5TT-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eca59413-85e3-423a-badd-9f2ff3204e0e	86f70085-f53b-486b-ad93-2ebd54e3df35	g.chrX:142717376G>T	ENST00000381779.4	-	2	1774	c.1549C>A	c.(1549-1551)Ctt>Att	p.L517I	SLITRK4_ENST00000338017.4_Missense_Mutation_p.L517I|SLITRK4_ENST00000356928.1_Missense_Mutation_p.L517I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	517						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					AACTGATCAAGGACCCCACTG	0.483													T	142717376	G	T	142717376	3	4	416	1	0	0	0	0	1	0	0	0	14839	1000	35	4	968	4	SLITRK4	23	142717376	Missense_Mutation	SNP	G	TCGA-DU-A5TT-01A-11D-A289-08	59397994	142717376	12553184	60	41719											
WARS2	10352	broad.mit.edu	37	chr1	119576827	119576827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctccccaacaggaacGtgtgtggacctttaataaaa	13	10	8	10	1	0	1	0	1	0	0	2	3	2	3	4	2	2	0	4	2	5	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:119576827G>A	ENST00000369426.5	-	5	528	c.525C>T	c.(523-525)caC>caT	p.H175H	WARS2_ENST00000235521.4_Silent_p.H175H|WARS2_ENST00000537870.1_Silent_p.H81H			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	175					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	p.H175H(2)		breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	CAACAGGAACGTGTGTGGACC	0.433													A	119576827	G	A	119576827	2	1	417	1	0	0	0	0	0	0	0	1	17352	1136	40	1		1	WARS2	1	119576827	Silent	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		119576827	129673794	1	41720											
HSD3B1	3283	broad.mit.edu	37	chr1	120057162	120057162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctcagcgagatctggCgtataagccactctacagct	11	8	11	11	2	3	1	1	0	2	1	3	3	3	1	1	2	4	3	1	2	4	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:120057162C>T	ENST00000235547.6	+	4	1161	c.1022C>T	c.(1021-1023)gCg>gTg	p.A341V	HSD3B1_ENST00000528909.1_Missense_Mutation_p.A339V|HSD3B1_ENST00000369413.3_Missense_Mutation_p.A339V	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	339					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity	p.A339V(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	CGAGATCTGGCGTATAAGCCA	0.512													T	120057162	C	T	120057162	3	4	417	1	0	0	0	0	1	0	0	0	7445	768	27	1	1026	1	HSD3B1	1	120057162	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	480335	120057162	129193459	2	41721											
CD1B	910	broad.mit.edu	37	chr1	158298792	158298792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccaaaacaattgagccaatgGaggtggggtttcctggcaat	12	9	12	8	0	0	1	0	1	0	0	1	2	1	2	3	5	2	2	3	5	5	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:158298792G>A	ENST00000368168.3	-	5	1006	c.899C>T	c.(898-900)tCc>tTc	p.S300F		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	300					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					TGAGCCAATGGAGGTGGGGTT	0.463													A	158298792	G	A	158298792	3	1	417	1	0	0	0	0	1	0	0	0	3005	1174	41	2	110	2	CD1B	1	158298792	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	38241630	158298792	90951829	3	41722											
ARHGAP30	257106	broad.mit.edu	37	chr1	161019353	161019353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actcaggttctgagctgcttGagtcctctaggaaggagaag	10	10	13	8	0	3	3	1	2	2	1	4	5	4	4	1	3	2	3	1	3	3	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:161019353G>A	ENST00000368013.3	-	11	1867	c.1547C>T	c.(1546-1548)tCa>tTa	p.S516L	ARHGAP30_ENST00000368016.3_Missense_Mutation_p.S516L|ARHGAP30_ENST00000368015.1_Missense_Mutation_p.S339L	NM_001025598.1|NM_181720.2	NP_001020769.1|NP_859071.2	Q7Z6I6	RHG30_HUMAN	Rho GTPase activating protein 30	516					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.S516L(2)		breast(2)|cervix(3)|endometrium(4)|kidney(2)|large_intestine(4)|lung(6)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	all_cancers(52;8.05e-20)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00122)			TGAGCTGCTTGAGTCCTCTAG	0.647													A	161019353	G	A	161019353	3	1	417	1	0	0	0	0	1	0	0	0	882	1294	45	2	1766	2	ARHGAP30	1	161019353	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	2720561	161019353	88231268	4	41723											
ADSS	159	broad.mit.edu	37	chr1	244581040	244581040	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctaccccttgtttgtaaTaattctccaatttcctacag	9	17	3	12	0	2	0	0	0	2	0	5	0	3	0	4	0	2	2	4	0	5	8			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr1:244581040T>C	ENST00000366535.3	-	10	1276	c.960A>G	c.(958-960)ttA>ttG	p.L320L		NM_001126.3	NP_001117.2	P30520	PURA2_HUMAN	adenylosuccinate synthase	320					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol|plasma membrane	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(1)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	12	all_cancers(71;2.17e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)	all_cancers(173;0.0896)|all_epithelial(177;0.172)	all cancers(7;9.71e-08)|GBM - Glioblastoma multiforme(7;1.28e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.0014)		L-Aspartic Acid(DB00128)	TTGTTTGTAATAATTCTCCAA	0.363													C	244581040	T	C	244581040	2	2	417	1	0	0	0	0	0	0	0	1	347	1403	49	3		3	ADSS	1	244581040	Silent	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	83561687	244581040	4669581	5	41724											
RSAD2	91543	broad.mit.edu	37	chr2	7027291	7027291	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcactaaaccctgtccgctGgaaagtaagtacacaaggtc	14	7	9	11	1	0	0	0	0	0	0	2	1	1	1	2	2	3	4	2	2	6	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:7027291G>A	ENST00000382040.3	+	3	870	c.734G>A	c.(733-735)tGg>tAg	p.W245*	RSAD2_ENST00000541728.1_Nonsense_Mutation_p.W138*	NM_080657.4	NP_542388.2	Q8WXG1	RSAD2_HUMAN	radical S-adenosyl methionine domain containing 2	245					defense response to virus	endoplasmic reticulum membrane|Golgi apparatus	catalytic activity|iron-sulfur cluster binding|metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)	20	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			OV - Ovarian serous cystadenocarcinoma(76;0.191)		CCTGTCCGCTGGAAAGTAAGT	0.378													A	7027291	G	A	7027291	4	1	417	1	0	0	0	0	0	1	0	0	13786	1357	47	2	744	2	RSAD2	2	7027291	Nonsense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		7027291	236172082	6	41725											
TTN	7273	broad.mit.edu	37	chr2	179591837	179591837	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttactataaccttggtaCtgcagcttgtgctgccagcg	7	14	9	11	1	0	0	0	0	0	0	0	0	0	0	2	1	8	4	2	1	4	7			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:179591837C>A	ENST00000589042.1	-	69	20479	c.20255G>T	c.(20254-20256)aGt>aTt	p.S6752I	TTN_ENST00000591111.1_Missense_Mutation_p.S6435I|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5508I|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6435	Ig-like 49.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACCTTGGTACTGCAGCTTGT	0.418													A	179591837	C	A	179591837	3	1	417	1	0	0	0	0	1	0	0	0	16837	565	20	4	84450	4	TTN	2	179591837	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	172564546	179591837	63607536	7	41726											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	417	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	29521275	209113112	34086261	8	41727											
MORC1	27136	broad.mit.edu	37	chr3	108788570	108788570	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggttaaaatacagaacagAtgtgtaggctctgaatgacc	14	10	11	6	0	1	4	0	2	1	2	1	4	1	4	1	2	2	3	1	2	6	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:108788570A>C	ENST00000232603.5	-	9	806	c.724T>G	c.(724-726)Tct>Gct	p.S242A	MORC1_ENST00000483760.1_Missense_Mutation_p.S242A	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	242					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TACAGAACAGATGTGTAGGCT	0.378													C	108788570	A	C	108788570	3	2	417	1	0	0	0	0	1	0	0	0	9777	333	12	5	2310	5	MORC1	3	108788570	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		108788570	89233860	9	41728											
SLCO2A1	6578	broad.mit.edu	37	chr3	133670173	133670173	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcgggggtcacccgggAccaagttaactgcagctgaa	10	7	12	12	2	1	1	1	1	0	0	3	2	2	2	3	3	3	3	3	3	3	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:133670173A>G	ENST00000310926.4	-	6	1013	c.740T>C	c.(739-741)gTc>gCc	p.V247A	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.V171A	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	247					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						GTCACCCGGGACCAAGTTAAC	0.478													G	133670173	A	G	133670173	3	3	417	1	0	0	0	0	1	0	0	0	14820	275	10	3	1227	3	SLCO2A1	3	133670173	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	24881603	133670173	64352257	10	41729											
PAK2	5062	broad.mit.edu	37	chr3	196533532	196533532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gactgctcctcccgttattgCcccgcgaccggatcatacga	7	9	9	16	5	1	0	1	0	0	0	3	4	3	1	5	1	3	2	5	1	2	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr3:196533532C>T	ENST00000327134.3	+	6	873	c.551C>T	c.(550-552)gCc>gTc	p.A184V		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	184					axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CCCGTTATTGCCCCGCGACCG	0.483													T	196533532	C	T	196533532	3	4	417	1	0	0	0	0	1	0	0	0	11477	739	26	2	569	2	PAK2	3	196533532	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	62863359	196533532	1488898	11	41730											
LGI2	55203	broad.mit.edu	37	chr4	25005398	25005398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggagtccccgatgaagCgggtaagggaaaggtagagg	11	4	18	8	3	0	2	0	1	0	1	1	5	1	4	3	5	1	2	3	5	4	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:25005398C>A	ENST00000382114.4	-	8	1498	c.1313G>T	c.(1312-1314)cGc>cTc	p.R438L		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	438						extracellular region		p.R438H(1)|p.R438L(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CCCGATGAAGCGGGTAAGGGA	0.542													A	25005398	C	A	25005398	3	1	417	1	0	0	0	0	1	0	0	0	8812	768	27	4	328	4	LGI2	4	25005398	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		25005398	166148878	12	41731											
RFC1	5981	broad.mit.edu	37	chr4	39306546	39306546	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacgtagctgtatcccaaCtcctaatcaaaatattggaa	14	11	5	11	1	1	0	1	0	0	0	4	1	4	1	3	1	2	3	3	1	8	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:39306546C>T	ENST00000381897.1	-	15	2134	c.2001G>A	c.(1999-2001)gaG>gaA	p.E667E	RFC1_ENST00000349703.2_Silent_p.E666E	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	667					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						TGTATCCCAACTCCTAATCAA	0.433													T	39306546	C	T	39306546	2	4	417	1	0	0	0	0	0	0	0	1	13332	564	20	2		2	RFC1	4	39306546	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	14301148	39306546	151847730	13	41732											
ENPEP	2028	broad.mit.edu	37	chr4	111397844	111397844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggacagtggaaaaactttCgactgccggacttcgtcaac	11	8	11	11	4	1	0	1	0	0	0	3	4	1	3	1	3	3	0	1	3	3	2	rs143343563		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:111397844C>T	ENST00000265162.5	+	1	616	c.274C>T	c.(274-276)Cga>Tga	p.R92*		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	92					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	GAAAAACTTTCGACTGCCGGA	0.612													T	111397844	C	T	111397844	4	4	417	1	0	0	0	0	0	1	0	0	5169	876	31	1	276	1	ENPEP	4	111397844	Nonsense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	72091298	111397844	79756432	14	41733											
KIAA1109	84162	broad.mit.edu	37	chr4	123140536	123140536	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacatgtatatggattttgaAgaggttatctcaagtcctgt	11	15	10	5	0	1	2	1	1	1	1	3	4	2	3	1	2	0	2	1	2	5	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr4:123140536A>G	ENST00000264501.4	+	21	2662	c.2289A>G	c.(2287-2289)gaA>gaG	p.E763E	KIAA1109_ENST00000455637.1_Silent_p.E763E|KIAA1109_ENST00000388738.3_Silent_p.E763E|KIAA1109_ENST00000495260.1_3'UTR			Q2LD37	K1109_HUMAN	KIAA1109	763					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						TGGATTTTGAAGAGGTTATCT	0.353													G	123140536	A	G	123140536	2	3	417	1	0	0	0	0	0	0	0	1	8266	69	3	3		3	KIAA1109	4	123140536	Silent	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	11742692	123140536	68013740	15	41734											
C6	729	broad.mit.edu	37	chr5	41203312	41203312	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcattcagcaggatgaagtaCaagacagagcgtctggccat	13	7	12	9	1	2	3	1	1	1	2	2	4	2	4	1	2	3	3	1	2	3	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:41203312C>G	ENST00000263413.3	-	2	285	c.21G>C	c.(19-21)ttG>ttC	p.L7F	C6_ENST00000337836.5_Missense_Mutation_p.L7F	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	7					complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				GGATGAAGTACAAGACAGAGC	0.448													G	41203312	C	G	41203312	3	3	417	1	0	0	0	0	1	0	0	0	2337	477	17	4	2851	4	C6	5	41203312	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		41203312	139711948	16	41735											
MAP3K1	4214	broad.mit.edu	37	chr5	56178277	56178277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaaaaatagcatgacacttGatctgaacagtagttccaaa	18	9	6	8	0	1	3	0	3	1	0	2	3	2	3	1	0	2	3	1	0	7	4			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr5:56178277G>A	ENST00000399503.3	+	14	3250	c.3250G>A	c.(3250-3252)Gat>Aat	p.D1084N		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1084					cellular response to mechanical stimulus|innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|zinc ion binding			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		CATGACACTTGATCTGAACAG	0.453													A	56178277	G	A	56178277	3	1	417	1	0	0	0	0	1	0	0	0	9318	1290	45	2	3304	2	MAP3K1	5	56178277	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	14974965	56178277	124736983	17	41736											
TDRD6	221400	broad.mit.edu	37	chr6	46659874	46659874	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattagtcatctttcagagAgattaaacagtgttaaaaca	18	12	6	5	0	3	2	2	0	1	2	3	3	3	2	0	0	2	1	0	0	6	4			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr6:46659874A>G	ENST00000544460.1	+	1	4263	c.4009A>G	c.(4009-4011)Aga>Gga	p.R1337G	TDRD6_ENST00000316081.6_Missense_Mutation_p.R1337G	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1337					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCTTTCAGAGAGATTAAACAG	0.323													G	46659874	A	G	46659874	3	3	417	1	0	0	0	0	1	0	0	0	15834	296	11	3	4011	3	TDRD6	6	46659874	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		46659874	124455193	18	41737											
CARD11	84433	broad.mit.edu	37	chr7	2954958	2954958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgagatgatgcggacccGctcgttgctgttcatccgct	5	10	11	15	5	1	2	1	1	0	1	3	4	2	3	4	1	2	5	4	1	0	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:2954958G>A	ENST00000396946.4	-	21	3155	c.2752C>T	c.(2752-2754)Cgg>Tgg	p.R918W		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	918					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		ATGCGGACCCGCTCGTTGCTG	0.592			Mis		DLBCL								A	2954958	G	A	2954958	3	1	417	1	0	0	0	0	1	0	0	0	2671	1086	38	1	732	1	CARD11	7	2954958	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		2954958	156183705	19	41738											
FKBP6	8468	broad.mit.edu	37	chr7	72755293	72755293	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtcttctcctgactgagTatcaaaaggcccgggatttt	8	14	9	10	1	3	2	1	2	2	0	4	3	3	3	2	2	0	1	2	2	3	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:72755293T>C	ENST00000252037.4	+	7	874	c.805T>C	c.(805-807)Tat>Cat	p.Y269H	FKBP6_ENST00000413573.2_Missense_Mutation_p.Y239H|FKBP6_ENST00000431982.2_Missense_Mutation_p.Y264H	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	269					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				CCTGACTGAGTATCAAAAGGC	0.463													C	72755293	T	C	72755293	3	2	417	1	0	0	0	0	1	0	0	0	5961	1638	57	3	877	3	FKBP6	7	72755293	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	69800335	72755293	86383370	20	41739											
AKAP9	10142	broad.mit.edu	37	chr7	91631134	91631134	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctatttagtcacgaaGaagagctttccaaactgaag	14	11	8	8	1	2	3	1	1	1	2	3	4	3	3	1	0	3	2	1	0	6	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:91631134G>T	ENST00000359028.2	+	9	2164	c.1939G>T	c.(1939-1941)Gaa>Taa	p.E647*	AKAP9_ENST00000358100.2_Nonsense_Mutation_p.E647*|AKAP9_ENST00000356239.3_Nonsense_Mutation_p.E635*			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	647	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAGTCACGAAGAAGAGCTTTC	0.328			T	BRAF	papillary thyroid								T	91631134	G	T	91631134	4	4	417	1	0	0	0	0	0	1	0	0	459	943	33	4	1933	4	AKAP9	7	91631134	Nonsense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	18875841	91631134	67507529	21	41740											
GJC3	349149	broad.mit.edu	37	chr7	99526519	99526519	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggctatcggttgctttcTtgtgtcttctggtgctctct	2	18	12	9	1	4	0	0	0	4	0	6	1	4	1	0	4	2	4	0	4	1	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:99526519T>G	ENST00000312891.2	-	1	724	c.725A>C	c.(724-726)aAg>aCg	p.K242T		NM_181538.2	NP_853516.1	Q8NFK1	CXG3_HUMAN	gap junction protein, gamma 3, 30.2kDa	242						connexon complex|integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGTTGCTTTCTTGTGTCTTCT	0.483													G	99526519	T	G	99526519	3	3	417	1	0	0	0	0	1	0	0	0	6472	1609	56	5	122	5	GJC3	7	99526519	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	7895385	99526519	59612144	22	41741											
CALD1	800	broad.mit.edu	37	chr7	134618474	134618476	+	In_Frame_Del	DEL	GGA	GGA	-																															gaagagagggaaaggatgagGgaggaagagaaaagggcagc																										TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr7:134618474_134618476delGGA	ENST00000361675.2	+	5	1183_1185	c.954_956delGGA	c.(952-957)agggag>agg	p.E321del	CALD1_ENST00000424922.1_Intron|CALD1_ENST00000361388.2_Intron|CALD1_ENST00000495522.1_Intron|CALD1_ENST00000422748.1_Intron|CALD1_ENST00000543443.1_Intron|CALD1_ENST00000393118.2_Intron|CALD1_ENST00000361901.2_Intron|CALD1_ENST00000417172.1_Intron			Q05682	CALD1_HUMAN	caldesmon 1	321	3 X 14 AA tandem repeats of E-E-E-K-R-A- A-E-E-R-Q-R-I-K.				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						aaaggatgagggaggaagagaaa	0.483													-	134618476	GGA	-	134618474	7	5	417	1	0	1	0	1	0	0	0	0	2607	1223	43	0	1021	0	CALD1	7	134618474	In_Frame_Del	DEL	GGA	TCGA-DU-A5TU-01A-11D-A289-08	35091955	134618474	24520189	23	41742											
SLC39A4	55630	broad.mit.edu	37	chr8	145639357	145639357	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacctccgggtccctgggCagcaggagattgaagaggtt	8	8	15	10	1	0	4	0	2	0	2	2	5	2	4	3	4	1	3	3	4	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:145639357C>G	ENST00000276833.5	-	6	1500	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L	SLC39A4_ENST00000301305.3_Silent_p.L424L	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	424						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			GGTCCCTGGGCAGCAGGAGAT	0.652													G	145639357	C	G	145639357	2	3	417	1	0	0	0	0	0	0	0	1	14714	697	25	4		4	SLC39A4	8	145639357	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		145639357	724665	24	41743											
C8orf33	65265	broad.mit.edu	37	chr8	146278473	146278473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttggcccaggaattggCttggtgtgtggagcaactgg	8	10	16	7	0	0	0	0	0	0	0	0	2	0	2	1	6	2	3	1	6	2	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr8:146278473C>T	ENST00000331434.6	+	3	458	c.344C>T	c.(343-345)gCt>gTt	p.A115V		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	115										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		CAGGAATTGGCTTGGTGTGTG	0.587													T	146278473	C	T	146278473	3	4	417	1	0	0	0	0	1	0	0	0	2446	797	28	2	354	2	C8orf33	8	146278473	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	639116	146278473	85549	25	41744											
PLCE1	51196	broad.mit.edu	37	chr10	96005955	96005955	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccgacaatagcaccttGacctgggtaaagcccacaac	13	5	8	15	1	0	1	0	1	0	0	0	2	0	1	4	1	4	2	4	1	5	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:96005955G>T	ENST00000371380.3	+	7	2908	c.2673G>T	c.(2671-2673)ttG>ttT	p.L891F	PLCE1_ENST00000371375.1_Missense_Mutation_p.L583F|PLCE1_ENST00000371385.3_Missense_Mutation_p.L583F|PLCE1_ENST00000260766.3_Missense_Mutation_p.L891F			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATAGCACCTTGACCTGGGTAA	0.552													T	96005955	G	T	96005955	3	4	417	1	0	0	0	0	1	0	0	0	12111	1281	45	4	2985	4	PLCE1	10	96005955	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		96005955	39528792	26	41745											
ENTPD7	57089	broad.mit.edu	37	chr10	101464242	101464242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtgtccgacaagcccaTggtagctggttccgtctctc	7	10	12	12	2	1	0	0	0	1	0	5	2	3	0	3	3	2	3	3	3	3	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr10:101464242T>C	ENST00000370489.4	+	13	1795	c.1617T>C	c.(1615-1617)caT>caC	p.H539H	CUTC_ENST00000493385.1_Intron	NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	539						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GACAAGCCCATGGTAGCTGGT	0.458													C	101464242	T	C	101464242	2	2	417	1	0	0	0	0	0	0	0	1	5185	1461	51	3		3	ENTPD7	10	101464242	Silent	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	5458287	101464242	34070505	27	41746											
ACTN3	89	broad.mit.edu	37	chr11	66330634	66330634	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactacgtggccttctcCagtgccctctatggggagag	6	10	13	12	1	2	1	0	0	2	1	3	3	2	2	3	4	2	0	3	4	2	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr11:66330634C>T	ENST00000502692.1	+	0	2921				ACTN3_ENST00000513398.1_RNA	NM_001258371.1	NP_001245300.1	Q08043	ACTN3_HUMAN	actinin, alpha 3 (gene/pseudogene)						focal adhesion assembly|muscle filament sliding|regulation of apoptosis	actin filament|cytosol|focal adhesion|pseudopodium	actin binding|calcium ion binding|integrin binding|protein homodimerization activity|structural constituent of muscle			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)	10						TGGCCTTCTCCAGTGCCCTCT	0.627													T	66330634	C	T	66330634	1	4	417	0	1	0	0	0	0	0	0	0	206	581	21	2		2	ACTN3	11	66330634	RNA	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		66330634	68675882	28	41747											
SLC7A7	9056	broad.mit.edu	37	chr14	23282566	23282566	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaaggggaggtttccacCtcaggctgggaggccacttc	8	7	13	13	0	1	0	1	0	0	0	3	2	2	2	4	6	0	2	4	6	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:23282566C>T	ENST00000397532.3	-	2	567	c.42G>A	c.(40-42)gaG>gaA	p.E14E	SLC7A7_ENST00000555702.1_Silent_p.E14E|SLC7A7_ENST00000397528.4_Silent_p.E14E|SLC7A7_ENST00000397529.2_Silent_p.E14E|SLC7A7_ENST00000554517.1_Intron|SLC7A7_ENST00000285850.7_Silent_p.E14E			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	14					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		AGGTTTCCACCTCAGGCTGGG	0.562													T	23282566	C	T	23282566	2	4	417	1	0	0	0	0	0	0	0	1	14797	680	24	2		2	SLC7A7	14	23282566	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		23282566	84066974	29	41748											
RGS6	9628	broad.mit.edu	37	chr14	72976874	72976874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccaaagcaaagagcccagCcaacagcgagtaaaaagatg	18	2	9	12	1	0	2	0	0	0	2	0	3	0	2	4	0	5	2	4	0	6	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:72976874C>T	ENST00000553530.1	+	14	1185	c.978C>T	c.(976-978)agC>agT	p.S326S	RGS6_ENST00000343854.6_Silent_p.S289S|RGS6_ENST00000402788.2_Silent_p.S326S|RGS6_ENST00000355512.6_Silent_p.S326S|RGS6_ENST00000407322.4_Silent_p.S326S|RGS6_ENST00000434263.2_Silent_p.S257S|RGS6_ENST00000555571.1_Silent_p.S326S|RGS6_ENST00000404301.2_Silent_p.S326S|RGS6_ENST00000553525.1_Silent_p.S326S|RGS6_ENST00000556437.1_Silent_p.S326S|RGS6_ENST00000554782.1_Silent_p.S187S|RGS6_ENST00000406236.4_Silent_p.S326S	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	326	G protein gamma.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		AAGAGCCCAGCCAACAGCGAG	0.458													T	72976874	C	T	72976874	2	4	417	1	0	0	0	0	0	0	0	1	13398	738	26	2		2	RGS6	14	72976874	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	49694308	72976874	34372666	30	41749											
RTL1	388015	broad.mit.edu	37	chr14	101347483	101347483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggtagcggttctgacGcagggcagggaggtggccct	6	7	17	11	2	1	1	0	1	1	0	2	2	2	2	2	6	1	4	2	6	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr14:101347483G>A	ENST00000534062.1	-	1	3701	c.3643C>T	c.(3643-3645)Cgt>Tgt	p.R1215C		NM_001134888.2	NP_001128360.1	E9PKS8	E9PKS8_HUMAN	retrotransposon-like 1	1215										breast(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(5)|pancreas(1)|prostate(2)|skin(2)	21						CGGTTCTGACGCAGGGCAGGG	0.627													A	101347483	G	A	101347483	3	1	417	1	0	0	0	0	1	0	0	0	13815	1087	38	1	437	1	RTL1	14	101347483	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	28370609	101347483	6002057	31	41750											
FBN1	2200	broad.mit.edu	37	chr15	48764791	48764791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggcacgaagcccatgtcGcattcacagcggtatcctcc	8	8	10	15	3	1	0	1	0	0	0	4	1	3	0	3	2	2	3	3	2	2	2	rs112375043		TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:48764791G>A	ENST00000316623.5	-	35	4748	c.4293C>T	c.(4291-4293)tgC>tgT	p.C1431C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1431	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		AGCCCATGTCGCATTCACAGC	0.527													A	48764791	G	A	48764791	2	1	417	1	0	0	0	0	0	0	0	1	5751	1079	38	1		1	FBN1	15	48764791	Silent	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		48764791	53766601	32	41751											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84373247	84373247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagttcctcacttatcGctatgatgaccaggtaagaa	12	10	10	9	1	1	3	1	2	0	1	3	4	2	4	2	2	1	4	2	2	4	4	rs77028575	byFrequency	TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:84373247G>T	ENST00000286744.5	+	3	400	c.176G>T	c.(175-177)cGc>cTc	p.R59L	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.R59L	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	59						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			CTCACTTATCGCTATGATGAC	0.453													T	84373247	G	T	84373247	3	4	417	1	0	0	0	0	1	0	0	0	276	1087	38	4	182	4	ADAMTSL3	15	84373247	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	35608456	84373247	18158145	33	41752											
ACAN	176	broad.mit.edu	37	chr15	89386881	89386881	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccatctgctacacaggTggggcacggctggtggtggg	6	7	18	10	2	1	0	0	0	1	0	1	1	1	0	1	7	2	3	1	7	1	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr15:89386881T>C	ENST00000439576.2	+	6	1425		c.e6+2		ACAN_ENST00000558207.1_Splice_Site|ACAN_ENST00000561243.1_Splice_Site|ACAN_ENST00000352105.7_Splice_Site|ACAN_ENST00000559004.1_Splice_Site	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan						cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GCTACACAGGTGGGGCACGGC	0.607													C	89386881	T	C	89386881	5	2	417	1	0	0	0	0	0	0	1	0	117	1710	59	3	1071	3	ACAN	15	89386881	Splice_Site	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	5013634	89386881	13144511	34	41753											
DNAH3	55567	broad.mit.edu	37	chr16	20975482	20975482	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagagaacctccaagaTcttatcttcaatttccttga	12	13	6	10	0	3	3	1	1	2	2	5	5	5	4	3	1	1	0	3	1	4	4			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr16:20975482T>C	ENST00000261383.3	-	53	9723	c.9724A>G	c.(9724-9726)Atc>Gtc	p.I3242V	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	3242	AAA 5 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACCTCCAAGATCTTATCTTCA	0.463													C	20975482	T	C	20975482	3	2	417	1	0	0	0	0	1	0	0	0	4642	1435	50	3	2665	3	DNAH3	16	20975482	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08		20975482	69379271	35	41754											
WDR81	124997	broad.mit.edu	37	chr17	1636086	1636086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgttcaccctggagAtggcatacacaatctacgtg	12	9	11	9	1	2	2	1	0	1	2	2	3	2	2	1	3	2	2	1	3	4	3			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:1636086A>G	ENST00000409644.1	+	6	4450	c.4450A>G	c.(4450-4452)Atg>Gtg	p.M1484V	WDR81_ENST00000419248.1_Missense_Mutation_p.M257V|WDR81_ENST00000446363.1_Missense_Mutation_p.M123V|WDR81_ENST00000437219.2_Missense_Mutation_p.M281V|WDR81_ENST00000309182.5_Missense_Mutation_p.M433V|WDR81_ENST00000545662.1_Missense_Mutation_p.M115V|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	257										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CACCCTGGAGATGGCATACAC	0.627													G	1636086	A	G	1636086	3	3	417	1	0	0	0	0	1	0	0	0	17432	333	12	3	4534	3	WDR81	17	1636086	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08		1636086	79559124	36	41755											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:7578524G>C	ENST00000420246.2	-	5	538	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	TP53_ENST00000455263.2_Missense_Mutation_p.Q136E|TP53_ENST00000413465.2_Missense_Mutation_p.Q136E|TP53_ENST00000269305.4_Missense_Mutation_p.Q136E|TP53_ENST00000359597.4_Missense_Mutation_p.Q136E|TP53_ENST00000445888.2_Missense_Mutation_p.Q136E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			C	7578524	G	C	7578524	3	2	417	1	0	0	0	0	1	0	0	0	16482	1357	47	4	892	4	TP53	17	7578524	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	5942438	7578524	73616686	37	41756											
MYH2	4620	broad.mit.edu	37	chr17	10431167	10431167	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagttggtcctctagagTccggcacattttctctaggt	7	14	9	11	1	3	1	1	0	2	1	6	1	5	1	2	3	0	2	2	3	2	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:10431167T>C	ENST00000245503.5	-	28	4153	c.3769A>G	c.(3769-3771)Act>Gct	p.T1257A	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.T1257A|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1257					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TCCTCTAGAGTCCGGCACATT	0.448													C	10431167	T	C	10431167	3	2	417	1	0	0	0	0	1	0	0	0	10111	1667	58	3	2108	3	MYH2	17	10431167	Missense_Mutation	SNP	T	TCGA-DU-A5TU-01A-11D-A289-08	2852643	10431167	70764043	38	41757											
KRT31	3881	broad.mit.edu	37	chr17	39552727	39552727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcagggactccacctggGcctccaggtcggacttgcac	6	8	11	16	1	1	0	1	0	0	0	4	2	3	2	5	4	1	1	5	4	0	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr17:39552727G>A	ENST00000251645.2	-	3	585	c.533C>T	c.(532-534)gCc>gTc	p.A178V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	178	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CTCCACCTGGGCCTCCAGGTC	0.587													A	39552727	G	A	39552727	3	1	417	1	0	0	0	0	1	0	0	0	8525	1203	42	2	737	2	KRT31	17	39552727	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	29121560	39552727	41642483	39	41758											
TXNDC2	84203	broad.mit.edu	37	chr18	9886961	9886961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acccatccagcccaagctggGcaatattcccaaggcctcag	11	6	8	16	0	1	0	1	0	0	0	3	0	3	0	5	2	2	2	5	2	4	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr18:9886961G>A	ENST00000357775.5	+	2	519	c.284G>A	c.(283-285)gGc>gAc	p.G95D	TXNDC2_ENST00000306084.6_Missense_Mutation_p.G162D|TXNDC2_ENST00000536353.2_Missense_Mutation_p.G95D	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)						cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						CCCAAGCTGGGCAATATTCCC	0.562													A	9886961	G	A	9886961	3	1	417	1	0	0	0	0	1	0	0	0	16899	1203	42	2	491	2	TXNDC2	18	9886961	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		9886961	68190287	40	41759											
MAG	4099	broad.mit.edu	37	chr19	35793494	35793494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctgtccacggtcatctacGagagcgagctgcagctggag	8	8	13	12	3	2	1	1	0	1	1	4	4	4	2	2	2	5	3	2	2	1	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:35793494G>A	ENST00000361922.4	+	7	1264	c.1114G>A	c.(1114-1116)Gag>Aag	p.E372K	MAG_ENST00000392213.3_Missense_Mutation_p.E372K|MAG_ENST00000537831.2_Missense_Mutation_p.E347K	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	372	Ig-like C2-type 3.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GGTCATCTACGAGAGCGAGCT	0.587													A	35793494	G	A	35793494	3	1	417	1	0	0	0	0	1	0	0	0	9233	1059	37	1	1132	1	MAG	19	35793494	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		35793494	23335489	41	41760											
TEX101	83639	broad.mit.edu	37	chr19	43922452	43922452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagctgctcactcaacctcGaaagactgaaaatggggcca	13	7	9	12	1	3	2	3	1	0	1	4	3	3	2	2	2	3	2	2	2	4	0			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr19:43922452G>A	ENST00000602198.1	+	8	1149	c.707G>A	c.(706-708)cGa>cAa	p.R236Q	TEX101_ENST00000253435.7_Missense_Mutation_p.R236Q|TEX101_ENST00000598265.1_Missense_Mutation_p.R218Q|TEX101_ENST00000601707.1_3'UTR	NM_031451.4	NP_113639.4	Q9BY14	TX101_HUMAN	testis expressed 101	218						anchored to membrane|plasma membrane				large_intestine(1)|lung(12)|ovary(1)|skin(1)	15		Prostate(69;0.0199)				ACTCAACCTCGAAAGACTGAA	0.498													A	43922452	G	A	43922452	3	1	417	1	0	0	0	0	1	0	0	0	15873	1058	37	1	729	1	TEX101	19	43922452	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	8128958	43922452	15206531	42	41761											
NFATC2	4773	broad.mit.edu	37	chr20	50091994	50091994	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcagctcccagcccttaCgttgccctcatgttgttttt	4	15	6	16	1	2	0	2	0	0	0	3	0	3	0	4	0	4	4	4	0	1	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr20:50091994C>T	ENST00000371564.3	-	4	1755		c.e4+1		NFATC2_ENST00000610033.1_Splice_Site|NFATC2_ENST00000396009.3_Splice_Site|NFATC2_ENST00000609507.1_Splice_Site|NFATC2_ENST00000414705.1_Splice_Site|NFATC2_ENST00000609943.1_Splice_Site	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2						B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCAGCCCTTACGTTGCCCTCA	0.567													T	50091994	C	T	50091994	5	4	417	1	0	0	0	0	0	0	1	0	10438	550	19	1	1317	1	NFATC2	20	50091994	Splice_Site	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08		50091994	12933526	43	41762											
TXNRD2	10587	broad.mit.edu	37	chr22	19868237	19868237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgggtgtcagctcaggccGccccttggggaaggcacagg	7	7	16	11	1	2	0	2	0	0	0	2	1	2	1	3	6	1	2	3	6	2	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:19868237G>A	ENST00000535882.1	-	13	1086	c.1087C>T	c.(1087-1089)Cgg>Tgg	p.R363W	TXNRD2_ENST00000400518.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000542719.1_Missense_Mutation_p.R334W|TXNRD2_ENST00000400519.1_Missense_Mutation_p.R363W|TXNRD2_ENST00000400521.1_Missense_Mutation_p.R364W			Q9NNW7	TRXR2_HUMAN	thioredoxin reductase 2	364					cell redox homeostasis|response to oxygen radical	mitochondrion	flavin adenine dinucleotide binding|NADP binding|thioredoxin-disulfide reductase activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|urinary_tract(2)	30	Colorectal(54;0.0993)					AGCTCAGGCCGCCCCTTGGGG	0.627													A	19868237	G	A	19868237	3	1	417	1	0	0	0	0	1	0	0	0	16910	1086	38	1	504	1	TXNRD2	22	19868237	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08		19868237	31436329	44	41763											
CRYBB2	1415	broad.mit.edu	37	chr22	25623853	25623853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaggccaactgcaagggCgagcagtttgtgtttgagaa	12	8	14	7	1	0	1	0	1	0	1	0	4	0	1	1	2	4	4	1	2	4	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:25623853C>T	ENST00000398215.2	+	4	378	c.207C>T	c.(205-207)ggC>ggT	p.G69G		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	69	Beta/gamma crystallin 'Greek key' 2.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						ACTGCAAGGGCGAGCAGTTTG	0.587													T	25623853	C	T	25623853	2	4	417	1	0	0	0	0	0	0	0	1	3942	755	27	1		1	CRYBB2	22	25623853	Silent	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	5755616	25623853	25680713	45	41764											
GAS2L1	10634	broad.mit.edu	37	chr22	29704343	29704343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagccgcccgcccggcccGaggtgtggccttccaggcgc	3	4	16	18	5	0	0	0	0	0	0	1	1	1	0	6	5	1	1	6	5	0	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chr22:29704343G>A	ENST00000471961.1	+	1	1296	c.248G>A	c.(247-249)cGa>cAa	p.R83Q	GAS2L1_ENST00000407854.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000403764.1_Missense_Mutation_p.R83Q|GAS2L1_ENST00000360113.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000407647.2_Missense_Mutation_p.R83Q|GAS2L1_ENST00000341313.6_Missense_Mutation_p.R83Q|GAS2L1_ENST00000406549.3_Missense_Mutation_p.R83Q			Q99501	GA2L1_HUMAN	growth arrest-specific 2 like 1	83	CH.				cell cycle arrest	cytoplasm|cytoskeleton				endometrium(2)|lung(2)|prostate(1)	5						CGCCCGGCCCGAGGTGTGGCC	0.692													A	29704343	G	A	29704343	3	1	417	1	0	0	0	0	1	0	0	0	6300	1058	37	1	250	1	GAS2L1	22	29704343	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	4080490	29704343	21600223	46	41765											
ATRX	546	broad.mit.edu	37	chrX	76778782	76778782	+	Frame_Shift_Del	DEL	A	A	-																															cttttctttcttcttcagtcAactcttcttcttctttgtgg																										TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:76778782delA	ENST00000373344.5	-	31	7011	c.6797delT	c.(6796-6798)ttgfs	p.L2266fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2228fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2266					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			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)	TTCTTCAGTCAACTCTTCTTC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76778782	A	-	76778782	7	5	417	1	0	1	0	1	0	0	0	0	1213	131	5	0	701	0	ATRX	23	76778782	Frame_Shift_Del	DEL	A	TCGA-DU-A5TU-01A-11D-A289-08		76778782	78491778	47	41766											
ZNF711	7552	broad.mit.edu	37	chrX	84525047	84525047	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattagaaagcagaagtagtAcagcagcacagtaccttcaa	17	7	8	9	0	1	2	1	0	0	2	1	2	1	2	1	0	5	6	1	0	7	5			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:84525047A>G	ENST00000360700.4	+	9	2027	c.1141A>G	c.(1141-1143)Aca>Gca	p.T381A	ZNF711_ENST00000542798.1_Missense_Mutation_p.T177A|ZNF711_ENST00000373165.3_Missense_Mutation_p.T335A|ZNF711_ENST00000276123.3_Missense_Mutation_p.T335A|ZNF711_ENST00000395402.1_Missense_Mutation_p.T343A			Q9Y462	ZN711_HUMAN	zinc finger protein 711	335					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CAGAAGTAGTACAGCAGCACA	0.348													G	84525047	A	G	84525047	3	3	417	1	0	0	0	0	1	0	0	0	18217	391	14	3	1025	3	ZNF711	23	84525047	Missense_Mutation	SNP	A	TCGA-DU-A5TU-01A-11D-A289-08	7746265	84525047	70745513	48	41767											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298904	125298904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgttctgctggcgctggCgcggatccaggaaggagacg	7	7	18	9	4	1	1	0	0	1	1	2	5	2	4	1	6	1	3	1	6	1	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:125298904C>G	ENST00000538699.1	-	2	1084	c.1004G>C	c.(1003-1005)cGc>cCc	p.R335P	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R335P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	335								p.R335H(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTGGCGCTGGCGCGGATCCAG	0.627													G	125298904	C	G	125298904	3	3	417	1	0	0	0	0	1	0	0	0	4299	768	27	4	391	4	DCAF12L2	23	125298904	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	40773857	125298904	29971656	49	41768											
MAGEA8	4107	broad.mit.edu	37	chrX	149013642	149013642	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgggtgatgatcagagtaCgcccaagaccggcctcctga	9	7	13	12	2	1	5	1	3	0	2	2	5	2	5	4	2	1	2	4	2	2	1			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:149013642C>A	ENST00000535454.1	+	4	1145	c.596C>A	c.(595-597)aCg>aAg	p.T199K	MAGEA8_ENST00000286482.1_Missense_Mutation_p.T199K|MAGEA8_ENST00000542674.1_Missense_Mutation_p.T199K	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	199	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GATCAGAGTACGCCCAAGACC	0.592													A	149013642	C	A	149013642	3	1	417	1	0	0	0	0	1	0	0	0	9244	536	19	4	598	4	MAGEA8	23	149013642	Missense_Mutation	SNP	C	TCGA-DU-A5TU-01A-11D-A289-08	23714738	149013642	6256918	50	41769											
HCFC1	3054	broad.mit.edu	37	chrX	153225450	153225450	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcaggcacagatgggaccGgattgggtgtaggggaggtg	8	7	21	5	1	0	1	0	0	0	1	0	4	0	4	1	8	0	3	1	8	1	2			TCGA-DU-A5TU-01A-11D-A289-08	TCGA-DU-A5TU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3dc5060-12ac-4f66-a901-9e16d447c00d	250e55c2-d5e7-4998-9ec1-0de7b97157f9	g.chrX:153225450G>C	ENST00000310441.7	-	8	2213	c.1247C>G	c.(1246-1248)cCg>cGg	p.P416R	HCFC1_ENST00000369984.4_Missense_Mutation_p.P416R|HCFC1_ENST00000354233.3_Intron	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	416					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGATGGGACCGGATTGGGTGT	0.637													C	153225450	G	C	153225450	3	2	417	1	0	0	0	0	1	0	0	0	7046	1116	39	4	4936	4	HCFC1	23	153225450	Missense_Mutation	SNP	G	TCGA-DU-A5TU-01A-11D-A289-08	4211808	153225450	2045110	51	41770											
NOC2L	26155	broad.mit.edu	37	chr1	883983	883983	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcgacctgctggaacaTctgccccaagggccgtgtca	9	7	12	13	2	2	0	1	0	1	0	3	3	2	1	4	2	3	1	4	2	3	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:883983T>C	ENST00000327044.6	-	13	1493	c.1444A>G	c.(1444-1446)Atg>Gtg	p.M482V		NM_015658.3	NP_056473	Q9Y3T9	NOC2L_HUMAN	nucleolar complex associated 2 homolog (S. cerevisiae)	482						nucleolus	protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(2)|urinary_tract(1)	16	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.86e-38)|OV - Ovarian serous cystadenocarcinoma(86;6.08e-23)|Colorectal(212;0.000161)|COAD - Colon adenocarcinoma(227;0.000194)|BRCA - Breast invasive adenocarcinoma(365;0.000475)|Kidney(185;0.00231)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		TGCTGGAACATCTGCCCCAAG	0.622													C	883983	T	C	883983	5	2	418	1	0	0	0	0	0	0	1	0	10589	1449	50	3	833	3	NOC2L	1	883983	Splice_Site	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08		883983	248366638	1	41771											
FLG	2312	broad.mit.edu	37	chr1	152283914	152283914	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgcctggagctgtctcGtgcctgctcgtggtgggatc	3	12	16	10	2	1	1	0	1	1	0	4	3	1	3	2	3	4	2	2	3	0	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:152283914G>T	ENST00000368799.1	-	3	3483	c.3448C>A	c.(3448-3450)Cga>Aga	p.R1150R	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1150	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGCTGTCTCGTGCCTGCTCG	0.597									Ichthyosis				T	152283914	G	T	152283914	2	4	418	1	0	0	0	0	0	0	0	1	5971	1153	40	4		4	FLG	1	152283914	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	151399931	152283914	96966707	2	41772											
PBXIP1	57326	broad.mit.edu	37	chr1	154918277	154918277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcccagggcagccGtgccaagtatgttcttagca	8	8	11	14	1	1	0	0	0	1	0	1	0	1	0	4	1	5	4	4	1	3	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:154918277G>A	ENST00000368463.3	-	10	1944	c.1873C>T	c.(1873-1875)Cgg>Tgg	p.R625W	PBXIP1_ENST00000368465.1_Missense_Mutation_p.R596W|PBXIP1_ENST00000539880.1_Missense_Mutation_p.R452W|PBXIP1_ENST00000542459.1_Missense_Mutation_p.R470W	NM_020524.2	NP_065385.2	Q96AQ6	PBIP1_HUMAN	pre-B-cell leukemia homeobox interacting protein 1	625					cell differentiation|multicellular organismal development|negative regulation of transcription, DNA-dependent	cytosol|microtubule|nucleus	protein binding|transcription corepressor activity			breast(1)|kidney(2)|large_intestine(6)|lung(13)|prostate(1)|urinary_tract(1)	24	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CAGGGCAGCCGTGCCAAGTAT	0.617													A	154918277	G	A	154918277	3	1	418	1	0	0	0	0	1	0	0	0	11572	1144	40	1	330	1	PBXIP1	1	154918277	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	2634363	154918277	94332344	3	41773											
RASSF5	83593	broad.mit.edu	37	chr1	206711607	206711607	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccagaaagcaccctcacCgtgaccttcagccaggtagg	10	7	9	15	1	3	2	2	1	1	1	4	2	3	2	5	2	2	2	5	2	2	2	rs138095666		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr1:206711607C>T	ENST00000355294.4	+	2	621	c.564C>T	c.(562-564)acC>acT	p.T188T	RASSF5_ENST00000367117.3_Silent_p.T188T	NM_182663.2	NP_872604.1	Q8WWW0	RASF5_HUMAN	Ras association (RalGDS/AF-6) domain family member 5	188					apoptosis|intracellular signal transduction	cytoplasm|microtubule	metal ion binding|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	8	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GCACCCTCACCGTGACCTTCA	0.592													T	206711607	C	T	206711607	2	4	418	1	0	0	0	0	0	0	0	1	13177	639	23	1		1	RASSF5	1	206711607	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	51793330	206711607	42539014	4	41774											
ARID5A	10865	broad.mit.edu	37	chr2	97217809	97217809	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaacttcactggcacccCgggccccttgaagggccagg	7	6	13	15	1	1	2	1	2	0	0	1	2	1	2	5	4	1	2	5	4	2	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:97217809C>T	ENST00000454558.2	+	7	2517	c.1340C>T	c.(1339-1341)cCg>cTg	p.P447L	ARID5A_ENST00000357485.3_Missense_Mutation_p.P515L			Q03989	ARI5A_HUMAN	AT rich interactive domain 5A (MRF1-like)	515					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|skin(1)|urinary_tract(2)	14						ACTGGCACCCCGGGCCCCTTG	0.721													T	97217809	C	T	97217809	3	4	418	1	0	0	0	0	1	0	0	0	924	652	23	1	1570	1	ARID5A	2	97217809	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		97217809	145981564	5	41775											
CKAP2L	150468	broad.mit.edu	37	chr2	113513832	113513832	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctctggcttatggctttTgacttttgcagtacacatga	7	15	10	9	0	1	2	0	2	1	0	1	2	1	2	1	3	2	4	1	3	2	6			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:113513832T>G	ENST00000541405.1	-	4	1144	c.621A>C	c.(619-621)tcA>tcC	p.S207S	CKAP2L_ENST00000302450.6_Silent_p.S372S			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	372						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						TTATGGCTTTTGACTTTTGCA	0.418													G	113513832	T	G	113513832	2	3	418	1	0	0	0	0	0	0	0	1	3474	1799	63	5		5	CKAP2L	2	113513832	Silent	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08	16296023	113513832	129685541	6	41776											
TTN	7273	broad.mit.edu	37	chr2	179517223	179517223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggctttttaggaggagccGctggcactttcttttcagga	7	13	12	9	1	2	0	1	0	1	0	2	3	2	3	1	5	1	3	1	5	1	6			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:179517223G>A	ENST00000589042.1	-	202	39313	c.39089C>T	c.(39088-39090)gCg>gTg	p.A13030V	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A10596V|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.A11523V|TTN_ENST00000359218.5_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11384	Ig-like 86.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGGAGGAGCCGCTGGCACTTT	0.378													A	179517223	G	A	179517223	3	1	418	1	0	0	0	0	1	0	0	0	16837	1087	38	1	68826	1	TTN	2	179517223	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	66003391	179517223	63682150	7	41777											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	418	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	29595889	209113112	34086261	8	41778											
NEU4	129807	broad.mit.edu	37	chr2	242755717	242755717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accccttcacggacagtgctCttcgagcgggagaggacggg	8	6	15	12	4	2	1	1	0	1	1	3	5	2	3	2	4	2	1	2	4	0	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr2:242755717C>T	ENST00000391969.2	+	3	747	c.36C>T	c.(34-36)ctC>ctT	p.L12L	NEU4_ENST00000325935.6_Silent_p.L25L|NEU4_ENST00000405370.1_Silent_p.L12L|NEU4_ENST00000404257.1_Silent_p.L24L|NEU4_ENST00000407683.1_Silent_p.L12L	NM_001167602.1	NP_001161074.1	Q8WWR8	NEUR4_HUMAN	sialidase 4	12						lysosomal lumen|organelle inner membrane	exo-alpha-sialidase activity|protein binding			breast(1)|lung(10)|prostate(2)|skin(2)	15		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0825)		GGACAGTGCTCTTCGAGCGGG	0.697													T	242755717	C	T	242755717	2	4	418	1	0	0	0	0	0	0	0	1	10420	900	32	2		2	NEU4	2	242755717	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	33642605	242755717	443656	9	41779											
ACPP	55	broad.mit.edu	37	chr3	132051153	132051153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctactctggcagcccAtcccggtgcacacagttcct	7	10	7	17	1	1	0	0	0	1	0	4	0	4	0	4	2	3	3	4	2	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:132051153A>G	ENST00000336375.5	+	4	511	c.421A>G	c.(421-423)Atc>Gtc	p.I141V	ACPP_ENST00000351273.7_Missense_Mutation_p.I141V|ACPP_ENST00000475741.1_Missense_Mutation_p.I141V|ACPP_ENST00000489084.1_3'UTR	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	141						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						CTGGCAGCCCATCCCGGTGCA	0.507													G	132051153	A	G	132051153	3	3	418	1	0	0	0	0	1	0	0	0	167	217	8	3	435	3	ACPP	3	132051153	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08		132051153	65971277	10	41780											
NCK1	4690	broad.mit.edu	37	chr3	136646967	136646967	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctaagtcctggtggcgagttCgaaattccatgaataaaaca	14	10	9	8	2	0	1	0	1	0	0	3	3	2	1	2	2	1	1	2	2	5	4			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr3:136646967C>T	ENST00000481752.1	+	2	288	c.124C>T	c.(124-126)Cga>Tga	p.R42*	NCK1_ENST00000288986.2_Nonsense_Mutation_p.R42*			P16333	NCK1_HUMAN	NCK adaptor protein 1	42	SH3 1.				axon guidance|positive regulation of actin filament polymerization|positive regulation of T cell proliferation|regulation of translation|signal complex assembly|T cell activation|T cell receptor signaling pathway	cytosol|endoplasmic reticulum|nucleus	cytoskeletal adaptor activity|receptor binding|receptor signaling complex scaffold activity			cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	13						GTGGCGAGTTCGAAATTCCAT	0.393													T	136646967	C	T	136646967	4	4	418	1	0	0	0	0	0	1	0	0	10295	876	31	1	126	1	NCK1	3	136646967	Nonsense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	4595814	136646967	61375463	11	41781											
JAKMIP1	152789	broad.mit.edu	37	chr4	6107435	6107435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcggtcagcagcgccGtcttgaccttgtcggccgcg	3	8	14	16	7	2	1	1	1	1	0	4	1	2	1	4	2	2	1	4	2	0	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:6107435G>A	ENST00000409021.3	-	3	838	c.389C>T	c.(388-390)aCg>aTg	p.T130M	JAKMIP1_ENST00000409371.3_Intron|JAKMIP1_ENST00000457227.2_Intron|JAKMIP1_ENST00000282924.5_Missense_Mutation_p.T130M|JAKMIP1_ENST00000410077.2_Intron|JAKMIP1_ENST00000409831.1_Missense_Mutation_p.T130M	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	130	Mediates association with microtubules.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CAGCAGCGCCGTCTTGACCTT	0.716													A	6107435	G	A	6107435	3	1	418	1	0	0	0	0	1	0	0	0	7998	1145	40	1	2257	1	JAKMIP1	4	6107435	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		6107435	185046841	12	41782											
MUC7	4589	broad.mit.edu	37	chr4	71347104	71347104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caccagagaccacagctgccCcacccacacctcctgcaact	11	4	5	21	0	0	1	0	0	0	1	1	2	1	1	7	0	4	2	7	0	1	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:71347104C>T	ENST00000413702.1	+	4	931	c.643C>T	c.(643-645)Cca>Tca	p.P215S	MUC7_ENST00000456088.1_Missense_Mutation_p.P215S|MUC7_ENST00000304887.5_Missense_Mutation_p.P215S	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	215	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			CACAGCTGCCCCACCCACACC	0.597													T	71347104	C	T	71347104	3	4	418	1	0	0	0	0	1	0	0	0	10057	623	22	2	649	2	MUC7	4	71347104	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	65239669	71347104	119807172	13	41783											
ANKRD17	26057	broad.mit.edu	37	chr4	74021734	74021734	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttattttgataatacgaAcctgtgcaagctcatagtat	12	15	7	7	1	1	1	1	1	0	0	1	2	1	1	1	0	4	4	1	0	7	8			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:74021734A>G	ENST00000358602.4	-	4	969		c.e4+1		ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000330838.6_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GATAATACGAACCTGTGCAAG	0.353													G	74021734	A	G	74021734	5	3	418	1	0	0	0	0	0	0	1	0	646	57	2	3	7081	3	ANKRD17	4	74021734	Splice_Site	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	2674630	74021734	117132542	14	41784											
ADH1C	126	broad.mit.edu	37	chr4	100260764	100260766	+	RNA	DEL	TCA	TCA	-																															agcgaagcaggtcaaatcctTcatttattttttcaaaaggt																										TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr4:100260764_100260766delTCA	ENST00000515683.1	-	0	1422_1424					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTCAAATCCTTCATTTATTTTTT	0.394													-	100260766	TCA	-	100260764	6	5	418	0	1	1	0	1	0	0	0	0	309	1783	62	0		0	ADH1C	4	100260764	RNA	DEL	TCA	TCGA-DU-A5TW-01A-11D-A289-08	26239030	100260764	90893512	15	41785											
DNAH5	1767	broad.mit.edu	37	chr5	13867993	13867993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactaatttattctggacttCgccagcacgtgccagcagct	9	11	9	12	2	1	0	0	0	1	0	2	2	1	1	2	1	4	3	2	1	2	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:13867993C>T	ENST00000265104.4	-	25	4047	c.3943G>A	c.(3943-3945)Gaa>Aaa	p.E1315K	CTB-51A17.1_ENST00000503244.1_RNA	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	1315	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGGACTTCGCCAGCACGT	0.453									Kartagener syndrome				T	13867993	C	T	13867993	3	4	418	1	0	0	0	0	1	0	0	0	4643	893	31	1	10151	1	DNAH5	5	13867993	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		13867993	167047267	16	41786											
NLN	57486	broad.mit.edu	37	chr5	65118664	65118664	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggatctctggacggcaTggacatgctccacaatttct	8	11	12	10	1	2	0	0	0	2	0	4	3	3	3	1	5	1	2	1	5	1	1	rs149642804	by1000genomes	TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:65118664T>C	ENST00000380985.5	+	13	2214	c.2036T>C	c.(2035-2037)aTg>aCg	p.M679T	NLN_ENST00000502464.1_Missense_Mutation_p.M575T|NLN_ENST00000515595.1_3'UTR	NM_020726.4	NP_065777.1	Q9BYT8	NEUL_HUMAN	neurolysin (metallopeptidase M3 family)	679					proteolysis	mitochondrial intermembrane space	metal ion binding|metalloendopeptidase activity			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0743)|Lung(70;0.00616)		CTGGACGGCATGGACATGCTC	0.433													C	65118664	T	C	65118664	3	2	418	1	0	0	0	0	1	0	0	0	10543	1464	51	3	2086	3	NLN	5	65118664	Missense_Mutation	SNP	T	TCGA-DU-A5TW-01A-11D-A289-08	51250671	65118664	115796596	17	41787											
HSPA9	3313	broad.mit.edu	37	chr5	137906680	137906680	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcaggatcatcatatcGccggccaatgagacgcttgg	10	10	10	11	3	3	1	3	1	0	1	4	3	3	2	2	3	1	1	2	3	3	4	rs35091799		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr5:137906680G>A	ENST00000297185.3	-	4	504	c.379C>T	c.(379-381)Cga>Tga	p.R127*		NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	127			R -> G (in dbSNP:rs35091799).		anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TCATCATATCGCCGGCCAATG	0.463													A	137906680	G	A	137906680	4	1	418	1	0	0	0	0	0	1	0	0	7474	1095	38	1	1716	1	HSPA9	5	137906680	Nonsense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	72788016	137906680	43008580	18	41788											
RNF8	9025	broad.mit.edu	37	chr6	37339288	37339288	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attttgttttggctttgcagGgtttggagatagcccaagga	8	15	13	5	0	0	1	0	0	0	1	0	3	0	2	1	4	2	4	1	4	2	7			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr6:37339288G>T	ENST00000373479.4	+	4	1169	c.976G>T	c.(976-978)Ggt>Tgt	p.G326C	RNF8_ENST00000469731.1_Splice_Site_p.G326C	NM_003958.3|NM_183078.2	NP_003949.1|NP_898901.1	O76064	RNF8_HUMAN	ring finger protein 8, E3 ubiquitin protein ligase	326	Gln-rich.				cell division|double-strand break repair|histone H2A ubiquitination|histone H2B ubiquitination|mitosis|positive regulation of DNA repair|response to ionizing radiation	midbody|nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	13						GGCTTTGCAGGGTTTGGAGAT	0.468													T	37339288	G	T	37339288	5	4	418	1	0	0	0	0	0	0	1	0	13591	1246	43	4	990	4	RNF8	6	37339288	Splice_Site	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		37339288	133775779	19	41789											
NCF1	653361	broad.mit.edu	37	chr7	74203029	74203029	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caggcgcggccgggaccgcaGagccccgggagcccgctcgg	5	1	18	17	7	0	1	0	0	0	1	1	3	0	3	5	5	2	2	5	5	0	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:74203029G>A	ENST00000289473.4	+	10	1102	c.1032G>A	c.(1030-1032)caG>caA	p.Q344Q		NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	344	Arg/Lys-rich (highly basic).				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CGGGACCGCAGAGCCCCGGGA	0.726													A	74203029	G	A	74203029	2	1	418	1	0	0	0	0	0	0	0	1	10292	933	33	2		2	NCF1	7	74203029	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		74203029	84935634	20	41790											
MUC17	140453	broad.mit.edu	37	chr7	100676715	100676715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttcatcttctacaactgCggaaggtaccagcatgccaa	12	9	7	13	1	3	0	1	0	2	0	3	1	3	1	2	2	6	2	2	2	5	4			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:100676715C>T	ENST00000306151.4	+	3	2082	c.2018C>T	c.(2017-2019)gCg>gTg	p.A673V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	673	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)					TCTACAACTGCGGAAGGTACC	0.502													T	100676715	C	T	100676715	3	4	418	1	0	0	0	0	1	0	0	0	10050	768	27	1	2028	1	MUC17	7	100676715	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	26473686	100676715	58461948	21	41791											
PIK3CG	5294	broad.mit.edu	37	chr7	106509439	106509439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtttcctcctgcgccgtgGagaatacgtcctccacatgt	6	11	9	15	4	0	1	0	0	0	1	4	2	4	1	6	1	2	1	6	1	2	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:106509439G>A	ENST00000359195.3	+	2	1743	c.1433G>A	c.(1432-1434)gGa>gAa	p.G478E	PIK3CG_ENST00000440650.2_Missense_Mutation_p.G478E|PIK3CG_ENST00000496166.1_Missense_Mutation_p.G478E	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	478					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CTGCGCCGTGGAGAATACGTC	0.522													A	106509439	G	A	106509439	3	1	418	1	0	0	0	0	1	0	0	0	11993	1174	41	2	1435	2	PIK3CG	7	106509439	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	5832724	106509439	52629224	22	41792											
LMOD2	442721	broad.mit.edu	37	chr7	123302314	123302314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaacattgagaacatcaCaacacagacccttacccgct	16	6	5	14	1	1	2	1	1	0	2	1	4	1	2	2	0	5	1	2	0	5	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr7:123302314C>A	ENST00000458573.2	+	2	831	c.674C>A	c.(673-675)aCa>aAa	p.T225K	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	225						cytoskeleton	actin binding|tropomyosin binding										GAGAACATCACAACACAGACC	0.488													A	123302314	C	A	123302314	3	1	418	1	0	0	0	0	1	0	0	0	8918	478	17	4	680	4	LMOD2	7	123302314	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	16792875	123302314	35836349	23	41793											
EPPK1	83481	broad.mit.edu	37	chr8	144940353	144940353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggccacgtccacgggcaCgcggtggctgtgcacggggt	5	6	18	12	5	0	0	0	0	0	0	1	0	1	0	2	6	1	4	2	6	1	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr8:144940353C>T	ENST00000525985.1	-	2	7140	c.7069G>A	c.(7069-7071)Gtg>Atg	p.V2357M				P58107	EPIPL_HUMAN	epiplakin 1	2357						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCACGGGCACGCGGTGGCTG	0.692													T	144940353	C	T	144940353	3	4	418	1	0	0	0	0	1	0	0	0	5231	536	19	1	197	1	EPPK1	8	144940353	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		144940353	1423669	24	41794											
EPPK1	83481	broad.mit.edu	37	chr8	144940844	144940844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctggagcatttcctccGtgattatggctgagctgagg	6	12	14	9	1	0	3	0	3	0	0	3	4	3	4	3	4	2	3	3	4	1	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr8:144940844G>A	ENST00000525985.1	-	2	6649	c.6578C>T	c.(6577-6579)aCg>aTg	p.T2193M				P58107	EPIPL_HUMAN	epiplakin 1	2193						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CATTTCCTCCGTGATTATGGC	0.552													A	144940844	G	A	144940844	3	1	418	1	0	0	0	0	1	0	0	0	5231	1145	40	1	688	1	EPPK1	8	144940844	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	491	144940844	1423178	25	41795											
SVEP1	79987	broad.mit.edu	37	chr9	113170752	113170752	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggtacaaagaacaatcttAcaaacagggaaagagtcatt	18	7	10	6	0	2	2	1	0	1	2	2	3	2	3	0	3	4	1	0	3	7	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:113170752A>G	ENST00000401783.2	-	38	7464	c.7128T>C	c.(7126-7128)tgT>tgC	p.C2376C	SVEP1_ENST00000297826.5_Silent_p.C302C|SVEP1_ENST00000374469.1_Silent_p.C2353C	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2376	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACAATCTTACAAACAGGGA	0.453													G	113170752	A	G	113170752	2	3	418	1	0	0	0	0	0	0	0	1	15516	389	14	3		3	SVEP1	9	113170752	Silent	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08		113170752	28042679	26	41796											
DDX31	64794	broad.mit.edu	37	chr9	135535105	135535105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagactaacctgagcccGtctgggatctcacgagagca	12	7	11	11	2	2	3	1	2	2	2	3	6	2	4	2	1	3	1	2	1	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr9:135535105G>A	ENST00000372159.3	-	5	981	c.830C>T	c.(829-831)aCg>aTg	p.T277M	DDX31_ENST00000480876.1_5'UTR|DDX31_ENST00000438527.3_Missense_Mutation_p.T148M|DDX31_ENST00000372153.1_Missense_Mutation_p.T277M|DDX31_ENST00000310532.2_Missense_Mutation_p.T277M	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	277	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACCTGAGCCCGTCTGGGATCT	0.498													A	135535105	G	A	135535105	3	1	418	1	0	0	0	0	1	0	0	0	4390	1145	40	1	1796	1	DDX31	9	135535105	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	22364353	135535105	5678326	27	41797											
IL2RA	3559	broad.mit.edu	37	chr10	6061422	6061422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctgttgtaaatatggaCgtctccatggttgcagccat	9	14	9	9	1	2	0	0	0	2	0	3	1	2	1	2	2	3	4	2	2	4	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:6061422C>T	ENST00000379959.3	-	6	869	c.696G>A	c.(694-696)acG>acA	p.T232T	IL2RA_ENST00000256876.6_Silent_p.T223T|IL2RA_ENST00000379954.1_Silent_p.T160T	NM_000417.2	NP_000408.1	P01589	IL2RA_HUMAN	interleukin 2 receptor, alpha	232					cell proliferation	integral to membrane	interleukin-2 receptor activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	17					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	TAAATATGGACGTCTCCATGG	0.468													T	6061422	C	T	6061422	2	4	418	1	0	0	0	0	0	0	0	1	7744	523	19	1		1	IL2RA	10	6061422	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		6061422	129473325	28	41798											
SUPV3L1	6832	broad.mit.edu	37	chr10	70940084	70940084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctattgtgggctcggctcCcggcggggcgccaggctggc	2	7	17	15	4	0	0	0	0	0	0	2	0	1	0	3	7	0	3	3	7	1	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:70940084C>T	ENST00000359655.4	+	1	97	c.37C>T	c.(37-39)Ccg>Tcg	p.P13S	SUPV3L1_ENST00000483572.1_3'UTR	NM_003171.3	NP_003162.2	Q8IYB8	SUV3_HUMAN	suppressor of var1, 3-like 1 (S. cerevisiae)	13					DNA duplex unwinding	mitochondrial nucleoid|nucleus	ATP binding|DNA binding|DNA helicase activity|RNA binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGCTCGGCTCCCGGCGGGGCG	0.687													T	70940084	C	T	70940084	3	4	418	1	0	0	0	0	1	0	0	0	15498	623	22	2	39	2	SUPV3L1	10	70940084	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	64878662	70940084	64594663	29	41799											
TRUB1	142940	broad.mit.edu	37	chr10	116710901	116710901	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttgaccagtatgttgtcagGgtccaaggtaagaatactga	12	11	12	6	0	1	3	1	2	0	1	2	3	2	3	2	2	1	4	2	2	5	5	rs139774976		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr10:116710901G>T	ENST00000298746.3	+	3	495	c.434G>T	c.(433-435)gGg>gTg	p.G145V	TRUB1_ENST00000485065.1_3'UTR	NM_139169.4	NP_631908.1	Q8WWH5	TRUB1_HUMAN	TruB pseudouridine (psi) synthase family member 1	145					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(2)|kidney(2)|large_intestine(1)|lung(5)|urinary_tract(2)	12		Colorectal(252;0.09)|Breast(234;0.174)|Lung NSC(174;0.245)		Epithelial(162;0.00879)|all cancers(201;0.0243)		ATGTTGTCAGGGTCCAAGGTA	0.299													T	116710901	G	T	116710901	3	4	418	1	0	0	0	0	1	0	0	0	16703	1232	43	4	444	4	TRUB1	10	116710901	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	45770817	116710901	18823846	30	41800											
TEAD1	7003	broad.mit.edu	37	chr11	12886385	12886385	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccttcccctaccctgcagGtgtctagtcacattcaggtt	6	13	7	15	0	3	0	2	0	1	0	5	0	5	0	4	2	2	2	4	2	2	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:12886385G>A	ENST00000361905.4	+	5	888	c.223G>A	c.(223-225)Gtg>Atg	p.V75M	TEAD1_ENST00000361985.2_Splice_Site_p.V90M|TEAD1_ENST00000527575.1_Splice_Site_p.V90M|TEAD1_ENST00000334310.6_Splice_Site_p.V75M|TEAD1_ENST00000527636.1_Splice_Site_p.V90M	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	90					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TACCCTGCAGGTGTCTAGTCA	0.478													A	12886385	G	A	12886385	5	1	418	1	0	0	0	0	0	0	1	0	15838	1275	44	2	278	2	TEAD1	11	12886385	Splice_Site	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		12886385	122120131	31	41801											
INSC	387755	broad.mit.edu	37	chr11	15222447	15222447	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccccaggcgctccgcacGctggcctccatctgctgcgt	4	8	10	19	4	1	0	0	0	1	0	3	0	3	0	5	2	3	4	5	2	1	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:15222447G>A	ENST00000379554.3	+	7	958	c.912G>A	c.(910-912)acG>acA	p.T304T	INSC_ENST00000379556.3_Silent_p.T257T|INSC_ENST00000528567.1_Silent_p.T257T|INSC_ENST00000424273.1_Intron|INSC_ENST00000447214.2_Intron|INSC_ENST00000525218.1_Intron|INSC_ENST00000530161.1_Silent_p.T257T	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	304					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						CGCTCCGCACGCTGGCCTCCA	0.612													A	15222447	G	A	15222447	2	1	418	1	0	0	0	0	0	0	0	1	7822	1074	38	1		1	INSC	11	15222447	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	2336062	15222447	119784069	32	41802											
ACCS	84680	broad.mit.edu	37	chr11	44089249	44089249	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctgcatgcaggacctGggcagtagccatggggaaga	10	5	14	12	0	0	1	0	0	0	1	0	3	0	3	4	4	3	4	4	4	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:44089249G>T	ENST00000263776.8	+	2	506	c.72G>T	c.(70-72)ctG>ctT	p.L24L	ACCS_ENST00000533208.1_3'UTR|ACCS_ENST00000432284.2_Silent_p.L24L	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	24							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TGCAGGACCTGGGCAGTAGCC	0.567													T	44089249	G	T	44089249	2	4	418	1	0	0	0	0	0	0	0	1	133	1335	47	4		4	ACCS	11	44089249	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	28866802	44089249	90917267	33	41803											
CHST1	8534	broad.mit.edu	37	chr11	45672219	45672219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcaaacaggtagaagacGtccaggtgctggttgaagag	12	7	15	7	1	1	4	1	1	0	3	2	4	2	4	1	4	2	4	1	4	4	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:45672219G>A	ENST00000308064.2	-	4	925	c.255C>T	c.(253-255)gaC>gaT	p.D85D		NM_003654.5	NP_003645.1	O43916	CHST1_HUMAN	carbohydrate (keratan sulfate Gal-6) sulfotransferase 1	85					galactose metabolic process|inflammatory response|keratan sulfate metabolic process	Golgi membrane|integral to membrane	keratan sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(10)|lung(17)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(35;3e-06)|BRCA - Breast invasive adenocarcinoma(625;0.0781)		GGTAGAAGACGTCCAGGTGCT	0.642													A	45672219	G	A	45672219	2	1	418	1	0	0	0	0	0	0	0	1	3427	1136	40	1		1	CHST1	11	45672219	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	1582970	45672219	89334297	34	41804											
VEGFB	7423	broad.mit.edu	37	chr11	64005040	64005040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaccaccagcgccctgAcccccggacctgccgctgcc	6	3	9	23	3	0	1	0	1	0	0	0	2	0	2	9	1	4	2	9	1	0	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64005040A>C	ENST00000309422.2	+	6	855	c.559A>C	c.(559-561)Acc>Ccc	p.T187P	VEGFB_ENST00000426086.2_Missense_Mutation_p.D153A	NM_001243733.1|NM_003377.4	NP_001230662.1|NP_003368.1	P49765	VEGFB_HUMAN	vascular endothelial growth factor B	187					anti-apoptosis|induction of positive chemotaxis|negative regulation of gene expression|negative regulation of neuron apoptosis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of endothelial cell proliferation|positive regulation of ERK1 and ERK2 cascade|positive regulation of mast cell chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of vascular endothelial growth factor receptor signaling pathway|positive regulation of vascular wound healing|vascular endothelial growth factor receptor signaling pathway	extracellular region|extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|heparin binding|vascular endothelial growth factor receptor 1 binding			endometrium(2)|large_intestine(2)|prostate(1)|stomach(1)	6						CAGCGCCCTGACCCCCGGACC	0.706													C	64005040	A	C	64005040	3	2	418	1	0	0	0	0	1	0	0	0	17253	275	10	5	581	5	VEGFB	11	64005040	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	18332821	64005040	71001476	35	41805											
ATG2A	23130	broad.mit.edu	37	chr11	64684532	64684532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttggaagaagtgacCtaagtagtggtgcagcaagt	11	10	14	6	0	1	2	0	1	1	1	1	3	1	3	1	2	3	4	1	2	5	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr11:64684532C>T	ENST00000421419.2	-	1	190	c.76G>A	c.(76-78)Ggt>Agt	p.G26S	ATG2A_ENST00000377264.3_Missense_Mutation_p.G26S			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	26							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AAGAAGTGACCTAAGTAGTGG	0.597													T	64684532	C	T	64684532	3	4	418	1	0	0	0	0	1	0	0	0	1098	681	24	2	5904	2	ATG2A	11	64684532	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	679492	64684532	70321984	36	41806											
SLCO1B3	28234	broad.mit.edu	37	chr12	21030809	21030809	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttattggttcttttacttaCgtctttaaatatatggagca	10	20	6	5	1	2	0	0	0	2	0	2	1	2	1	0	2	3	2	0	2	7	11	rs145036538		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:21030809C>T	ENST00000381545.3	+	10	1293	c.1074C>T	c.(1072-1074)taC>taT	p.Y358Y	SLCO1B3_ENST00000553473.1_Silent_p.Y358Y|SLCO1B3_ENST00000261196.2_Silent_p.Y358Y|LST3_ENST00000381541.3_Intron|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.Y358Y	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	358					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CTTTTACTTACGTCTTTAAAT	0.338													T	21030809	C	T	21030809	2	4	418	1	0	0	0	0	0	0	0	1	14818	547	19	1		1	SLCO1B3	12	21030809	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		21030809	112821086	37	41807											
NFYB	4801	broad.mit.edu	37	chr12	104517157	104517157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgttataaaactgatgaaCtcacttacacattcttgaac	15	13	5	8	0	2	3	1	3	1	0	2	4	2	3	0	0	4	1	0	0	6	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr12:104517157C>T	ENST00000240055.3	-	5	503	c.276G>A	c.(274-276)gaG>gaA	p.E92E	NFYB_ENST00000551727.1_Silent_p.E92E	NM_006166.3	NP_006157.1	P25208	NFYB_HUMAN	nuclear transcription factor Y, beta	92	B domain.|Subunit association domain (SAD) (By similarity).					CCAAT-binding factor complex	repressing transcription factor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	6						AACTGATGAACTCACTTACAC	0.343													T	104517157	C	T	104517157	2	4	418	1	0	0	0	0	0	0	0	1	10466	564	20	2		2	NFYB	12	104517157	Silent	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	83486348	104517157	29334738	38	41808											
TP53	7157	broad.mit.edu	37	chr17	7574034	7574034	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcgctcacgcccacggatCtgcagcaacagaggaggggg	11	3	15	12	3	2	1	1	0	1	1	2	3	2	3	1	4	4	3	1	4	2	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:7574034C>G	ENST00000420246.2	-	11	1259		c.e11-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000359597.4_Intron|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(9)|p.0?(8)|p.I332fs*49(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)		GCCCACGGATCTGCAGCAACA	0.512		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)			G	7574034	C	G	7574034	5	3	418	1	0	0	0	0	0	0	1	0	16482	927	32	4	196	4	TP53	17	7574034	Splice_Site	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		7574034	73621176	39	41809											
MYH8	4626	broad.mit.edu	37	chr17	10304026	10304026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcccgggagaggtcagagCgctgcttctccgctttggct	4	11	14	12	3	2	2	1	0	1	2	4	3	3	2	2	3	2	5	2	3	0	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:10304026C>T	ENST00000403437.2	-	27	3510	c.3416G>A	c.(3415-3417)cGc>cAc	p.R1139H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1139					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						GAGGTCAGAGCGCTGCTTCTC	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10304026	C	T	10304026	3	4	418	1	0	0	0	0	1	0	0	0	10117	768	27	1	2453	1	MYH8	17	10304026	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	2729992	10304026	70891184	40	41810											
EVI2B	2124	broad.mit.edu	37	chr17	29632058	29632058	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtggggtttgtttgttActggtagtatctaagataaa	9	19	11	2	0	1	1	0	0	1	1	1	1	1	1	0	3	1	5	0	3	6	9	rs142498190		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr17:29632058A>C	ENST00000330927.4	-	2	724	c.570T>G	c.(568-570)agT>agG	p.S190R	EVI2B_ENST00000577894.1_Missense_Mutation_p.S190R|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000544462.1_Missense_Mutation_p.S205R|NF1_ENST00000358273.4_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	190						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TTTGTTTGTTACTGGTAGTAT	0.338													C	29632058	A	C	29632058	3	2	418	1	0	0	0	0	1	0	0	0	5329	388	14	5	780	5	EVI2B	17	29632058	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	19328032	29632058	51563152	41	41811											
HRH4	59340	broad.mit.edu	37	chr18	22056982	22056982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgatcatctcagtaggtGccaaagccatcctggactga	10	9	11	11	1	2	2	2	2	1	0	4	3	3	3	3	2	2	1	3	2	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr18:22056982G>A	ENST00000256906.4	+	3	729	c.629G>A	c.(628-630)tGc>tAc	p.C210Y	HRH4_ENST00000426880.2_Missense_Mutation_p.C122Y	NM_001160166.1|NM_021624.3	NP_001153638.1|NP_067637.2	Q9H3N8	HRH4_HUMAN	histamine receptor H4	210						integral to membrane|plasma membrane	histamine receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	all_cancers(21;0.000545)|all_epithelial(16;6.56e-06)|Lung NSC(20;0.0027)|all_lung(20;0.0085)|Colorectal(14;0.0361)|Ovarian(20;0.0991)				Clozapine(DB00363)	CTCAGTAGGTGCCAAAGCCAT	0.438													A	22056982	G	A	22056982	3	1	418	1	0	0	0	0	1	0	0	0	7413	1319	46	2	639	2	HRH4	18	22056982	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		22056982	56020266	42	41812											
KATNAL2	83473	broad.mit.edu	37	chr18	44595881	44595882	+	Frame_Shift_Del	DEL	TG	TG	-																															aagactttactggccaaagcTgtggccactgaatgtaaaac																										TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr18:44595881_44595882delTG	ENST00000245121.5	+	10	896_897	c.702_703delTG	c.(700-705)gctgtgfs	p.V235fs	KATNAL2_ENST00000356157.7_Frame_Shift_Del_p.V307fs|KATNAL2_ENST00000592005.1_Intron	NM_031303.2	NP_112593.2	Q8IYT4	KATL2_HUMAN	katanin p60 subunit A-like 2	307						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			central_nervous_system(2)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(2)	27						TGGCCAAAGCTGTGGCCACTGA	0.426													-	44595882	TG	-	44595881	7	5	418	1	0	1	0	1	0	0	0	0	8044	1567	55	0	736	0	KATNAL2	18	44595881	Frame_Shift_Del	DEL	TG	TCGA-DU-A5TW-01A-11D-A289-08	22538899	44595881	33481367	43	41813											
FBN3	84467	broad.mit.edu	37	chr19	8201077	8201077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatggacagccgtacccaCgcatgcctgcctggtgggcg	6	7	15	13	3	0	0	0	0	0	0	0	2	0	2	4	4	4	2	4	4	1	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:8201077C>T	ENST00000600128.1	-	12	1876	c.1462G>A	c.(1462-1464)Gtg>Atg	p.V488M	FBN3_ENST00000601739.1_Missense_Mutation_p.V488M|FBN3_ENST00000270509.2_Missense_Mutation_p.V488M			Q75N90	FBN3_HUMAN	fibrillin 3	488	EGF-like 4; 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						GCCGTACCCACGCATGCCTGC	0.667													T	8201077	C	T	8201077	3	4	418	1	0	0	0	0	1	0	0	0	5753	536	19	1	7179	1	FBN3	19	8201077	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		8201077	50927906	44	41814											
MUC16	94025	broad.mit.edu	37	chr19	9046871	9046871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaattgtcccagaaaccGttgtgctggtttctgcagga	8	12	13	8	1	1	1	0	0	1	1	2	3	2	3	2	3	3	4	2	3	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:9046871G>A	ENST00000397910.4	-	5	34963	c.34760C>T	c.(34759-34761)aCg>aTg	p.T11587M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11589	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						CCCAGAAACCGTTGTGCTGGT	0.522													A	9046871	G	A	9046871	3	1	418	1	0	0	0	0	1	0	0	0	10049	1145	40	1	9083	1	MUC16	19	9046871	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	845794	9046871	50082112	45	41815											
PRR19	284338	broad.mit.edu	37	chr19	42814703	42814703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctggctggtagccacGccaccccctcctcggccctg	5	7	10	19	2	1	0	0	0	1	0	3	0	2	0	6	3	2	3	6	3	1	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:42814703G>A	ENST00000499536.2	+	2	1693	c.882G>A	c.(880-882)acG>acA	p.T294T	PRR19_ENST00000598490.1_3'UTR|PRR19_ENST00000341747.3_Silent_p.T294T			A6NJB7	PRR19_HUMAN	proline rich 19	294	Pro-rich.									NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				TGGTAGCCACGCCACCCCCTC	0.627													A	42814703	G	A	42814703	2	1	418	1	0	0	0	0	0	0	0	1	12677	1074	38	1		1	PRR19	19	42814703	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	33767832	42814703	16314280	46	41816											
GPR4	2828	broad.mit.edu	37	chr19	46094975	46094975	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaggtagacgcccagctcGttgcgctgttgcacctggcg	6	9	13	13	4	1	1	1	0	0	1	2	1	1	1	2	2	3	6	2	2	1	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46094975G>A	ENST00000323040.4	-	2	1094	c.150C>T	c.(148-150)aaC>aaT	p.N50N	OPA3_ENST00000544371.1_Intron	NM_005282.2	NP_005273.1	P46093	GPR4_HUMAN	G protein-coupled receptor 4	50						integral to plasma membrane	G-protein coupled receptor activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;0.0071)|GBM - Glioblastoma multiforme(486;0.128)|Epithelial(262;0.223)		CGCCCAGCTCGTTGCGCTGTT	0.617													A	46094975	G	A	46094975	2	1	418	1	0	0	0	0	0	0	0	1	6748	1136	40	1		1	GPR4	19	46094975	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	3280272	46094975	13034008	47	41817											
CCDC8	83987	broad.mit.edu	37	chr19	46915402	46915402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggccagccgggcctcGcccaccccggggcccgccct	3	3	15	20	4	0	0	0	0	0	0	1	1	0	1	8	5	1	0	8	5	0	0			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:46915402G>A	ENST00000307522.3	-	1	1439	c.666C>T	c.(664-666)ggC>ggT	p.G222G		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	222						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GCCGGGCCTCGCCCACCCCGG	0.701													A	46915402	G	A	46915402	2	1	418	1	0	0	0	0	0	0	0	1	2881	1074	38	1		1	CCDC8	19	46915402	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	820427	46915402	12213581	48	41818											
CPT1C	126129	broad.mit.edu	37	chr19	50203968	50203968	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacaccacgggctccggggGgtcctggcagccgcgctgtt	5	6	15	15	4	0	0	0	0	0	0	2	0	2	0	4	5	2	4	4	5	1	1	rs141969670		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:50203968G>A	ENST00000392518.4	+	5	681	c.309G>A	c.(307-309)ggG>ggA	p.G103G	CPT1C_ENST00000598293.1_Silent_p.G103G|CPT1C_ENST00000354199.5_Silent_p.G103G|CPT1C_ENST00000405931.2_Silent_p.G103G|CPT1C_ENST00000323446.5_Silent_p.G103G	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	103					fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		GGCTCCGGGGGGTCCTGGCAG	0.662													A	50203968	G	A	50203968	2	1	418	1	0	0	0	0	0	0	0	1	3864	1219	43	2		2	CPT1C	19	50203968	Silent	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	3288566	50203968	8925015	49	41819											
NLRP2	55655	broad.mit.edu	37	chr19	55501464	55501464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcaaccagtccctgaCgtgcgtaaacctctccgaca	11	8	8	14	3	2	2	1	2	1	0	4	3	3	2	4	0	3	1	4	0	4	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr19:55501464C>T	ENST00000543010.1	+	9	2584	c.2441C>T	c.(2440-2442)aCg>aTg	p.T814M	NLRP2_ENST00000339757.7_Missense_Mutation_p.T792M|NLRP2_ENST00000537859.1_Missense_Mutation_p.T792M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T791M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T811M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T790M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T814M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T790M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	814					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CAGTCCCTGACGTGCGTAAAC	0.517													T	55501464	C	T	55501464	3	4	418	1	0	0	0	0	1	0	0	0	10553	536	19	1	2471	1	NLRP2	19	55501464	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	5297496	55501464	3627519	50	41820											
SGK2	10110	broad.mit.edu	37	chr20	42204987	42204987	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagccttctccacaaggacCagaggcagcggctgggctcc	10	5	12	14	1	1	1	0	0	1	1	3	2	2	2	4	4	2	3	4	4	2	1			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:42204987C>G	ENST00000373100.1	+	12	1277	c.817C>G	c.(817-819)Cag>Gag	p.Q273E	SGK2_ENST00000373092.3_Missense_Mutation_p.Q273E|SGK2_ENST00000341458.4_Missense_Mutation_p.Q333E|SGK2_ENST00000423407.3_Missense_Mutation_p.Q273E|SGK2_ENST00000426287.1_Missense_Mutation_p.Q299E|SGK2_ENST00000373077.1_Missense_Mutation_p.Q272E			Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	333	Protein kinase.				intracellular protein kinase cascade|response to oxidative stress		ATP binding|potassium channel regulator activity|protein serine/threonine kinase activity|sodium channel regulator activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCACAAGGACCAGAGGCAGCG	0.607													G	42204987	C	G	42204987	3	3	418	1	0	0	0	0	1	0	0	0	14302	595	21	4	1035	4	SGK2	20	42204987	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		42204987	20820533	51	41821											
WFDC6	140870	broad.mit.edu	37	chr20	44168015	44168015	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccccaaaaggatgaatggtAccaggattggcagaagtcct	13	7	11	10	0	0	2	0	1	0	1	1	4	1	4	4	4	1	2	4	4	5	2			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:44168015A>G	ENST00000600168.1	-	1	119	c.32T>C	c.(31-33)gTa>gCa	p.V11A	EPPIN_ENST00000555685.1_Intron|EPPIN-WFDC6_ENST00000504988.1_Intron|WFDC6_ENST00000372670.3_Missense_Mutation_p.V11A					WAP four-disulfide core domain 6											breast(1)|kidney(1)|large_intestine(2)|lung(2)	6		Myeloproliferative disorder(115;0.0122)				GATGAATGGTACCAGGATTGG	0.512													G	44168015	A	G	44168015	3	3	418	1	0	0	0	0	1	0	0	0	17457	391	14	3	240	3	WFDC6	20	44168015	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	1963028	44168015	18857505	52	41822											
DDX27	55661	broad.mit.edu	37	chr20	47835985	47835985	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagtggcttctgcgacaaCatgcttgcggacctcggctt	7	10	13	11	3	1	0	0	0	1	0	2	3	1	2	1	4	4	3	1	4	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr20:47835985C>G	ENST00000371764.4	+	1	102	c.93C>G	c.(91-93)aaC>aaG	p.N31K	DDX27_ENST00000484427.1_3'UTR	NM_017895.7	NP_060365.7	Q96GQ7	DDX27_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 27	31						nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	45			BRCA - Breast invasive adenocarcinoma(12;0.000899)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TCTGCGACAACATGCTTGCGG	0.602													G	47835985	C	G	47835985	3	3	418	1	0	0	0	0	1	0	0	0	4388	477	17	4	95	4	DDX27	20	47835985	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	3667970	47835985	15189535	53	41823											
MGAT3	4248	broad.mit.edu	37	chr22	39884655	39884655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacttcaagctcgtgtccGcccagaatggcgacttccca	8	10	8	15	3	2	1	1	0	1	1	5	2	4	1	3	1	2	1	3	1	3	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chr22:39884655G>A	ENST00000341184.6	+	2	1518	c.1303G>A	c.(1303-1305)Gcc>Acc	p.A435T		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	435					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GCTCGTGTCCGCCCAGAATGG	0.662													A	39884655	G	A	39884655	3	1	418	1	0	0	0	0	1	0	0	0	9619	1087	38	1	1305	1	MGAT3	22	39884655	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08		39884655	11419911	54	41824											
DMD	1756	broad.mit.edu	37	chrX	32867885	32867885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcgaggaggtctaggaggCgcctcccatcctgtaggtca	7	9	13	12	2	2	0	1	0	1	0	5	3	4	2	3	5	0	1	3	5	2	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:32867885C>T	ENST00000357033.4	-	3	352	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DMD_ENST00000378677.2_Missense_Mutation_p.R45H|DMD_ENST00000288447.4_Missense_Mutation_p.R41H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	49	Actin-binding.|CH 1.		Missing (in BMD).		muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTCTAGGAGGCGCCTCCCATC	0.393													T	32867885	C	T	32867885	3	4	418	1	0	0	0	0	1	0	0	0	4619	768	27	1	11462	1	DMD	23	32867885	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08		32867885	122402675	55	41825											
ATRX	546	broad.mit.edu	37	chrX	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															cagaagtttcatcgctctggTctttctttaggaatttctct																										TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					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)	ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937836	TCTT	-	76937833	7	5	418	1	0	1	0	1	0	0	0	0	1213	1667	58	0	4671	0	ATRX	23	76937833	Frame_Shift_Del	DEL	TCTT	TCGA-DU-A5TW-01A-11D-A289-08	44069948	76937833	78332727	56	41826											
SYTL4	94121	broad.mit.edu	37	chrX	99956505	99956505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccattgctttcctgtatgCggcagtcccgacacaccagg	8	10	9	14	2	0	0	0	0	0	0	2	1	2	0	4	2	3	3	4	2	2	4			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:99956505C>T	ENST00000372981.1	-	3	461	c.275G>A	c.(274-276)cGc>cAc	p.R92H	SYTL4_ENST00000455616.1_Missense_Mutation_p.R92H|SYTL4_ENST00000263033.5_Missense_Mutation_p.R92H|SYTL4_ENST00000372989.1_Missense_Mutation_p.R92H|SYTL4_ENST00000276141.6_Missense_Mutation_p.R92H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R92H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	92	RabBD.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TTCCTGTATGCGGCAGTCCCG	0.582													T	99956505	C	T	99956505	3	4	418	1	0	0	0	0	1	0	0	0	15582	768	27	1	1800	1	SYTL4	23	99956505	Missense_Mutation	SNP	C	TCGA-DU-A5TW-01A-11D-A289-08	23018672	99956505	55314055	57	41827											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984622	104984622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagctgacctggcgaattAtacctgccatgttgaaaacc	12	9	10	10	1	0	2	0	2	0	0	0	4	0	3	4	2	4	2	4	2	6	3			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:104984622A>G	ENST00000372582.1	+	8	1742	c.986A>G	c.(985-987)tAt>tGt	p.Y329C	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.Y329C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	329	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTGGCGAATTATACCTGCCAT	0.393													G	104984622	A	G	104984622	3	3	418	1	0	0	0	0	1	0	0	0	7720	449	16	3	1012	3	IL1RAPL2	23	104984622	Missense_Mutation	SNP	A	TCGA-DU-A5TW-01A-11D-A289-08	5028117	104984622	50285938	58	41828											
BRS3	680	broad.mit.edu	37	chrX	135572458	135572458	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaataaaaatatgacatttGaatcatgtacctcttatcct	15	14	3	9	0	2	2	1	2	1	0	3	2	3	2	3	0	1	1	3	0	8	5			TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:135572458G>T	ENST00000370648.3	+	2	829	c.601G>T	c.(601-603)Gaa>Taa	p.E201*		NM_001727.1	NP_001718.1	P32247	BRS3_HUMAN	bombesin-like receptor 3	201					adult feeding behavior|glucose metabolic process|regulation of blood pressure	integral to membrane|plasma membrane	bombesin receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|pancreas(1)|prostate(1)	23	Acute lymphoblastic leukemia(192;0.000127)					TATGACATTTGAATCATGTAC	0.373													T	135572458	G	T	135572458	4	4	418	1	0	0	0	0	0	1	0	0	1531	1291	45	4	607	4	BRS3	23	135572458	Nonsense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	30587836	135572458	19698102	59	41829											
RENBP	5973	broad.mit.edu	37	chrX	153208402	153208402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgagctgctccaccaGgttcagtagcatcatgggca	8	8	10	15	1	2	0	2	0	0	0	4	1	4	0	4	2	3	6	4	2	1	2	rs149476338		TCGA-DU-A5TW-01A-11D-A289-08	TCGA-DU-A5TW-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9e20be0-18f4-4677-9605-7f5a9e048aae	f42bbddc-fce4-44a1-9cb5-a4d5d2f84693	g.chrX:153208402G>T	ENST00000393700.3	-	6	672	c.592C>A	c.(592-594)Ctg>Atg	p.L198M	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000369997.3_Missense_Mutation_p.L184M|RENBP_ENST00000412763.1_Missense_Mutation_p.L198M	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	198	Leucine-zipper.				mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	TGCTCCACCAGGTTCAGTAGC	0.701													T	153208402	G	T	153208402	3	4	418	1	0	0	0	0	1	0	0	0	13313	991	35	4	715	4	RENBP	23	153208402	Missense_Mutation	SNP	G	TCGA-DU-A5TW-01A-11D-A289-08	17635944	153208402	2062158	60	41830											
OPRD1	4985	broad.mit.edu	37	chr1	29189572	29189572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacccgctggtggtggctgCgctgcacctgtgcatcgcgc	3	8	15	15	5	0	0	0	0	0	0	1	1	0	0	2	3	3	5	2	3	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:29189572C>T	ENST00000234961.2	+	3	1138	c.896C>T	c.(895-897)gCg>gTg	p.A299V		NM_000911.3	NP_000902.3	P41143	OPRD_HUMAN	opioid receptor, delta 1	299					immune response|protein import into nucleus, translocation	integral to plasma membrane	delta-opioid receptor activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		Colorectal(325;3.46e-05)|Lung NSC(340;0.000947)|all_lung(284;0.00131)|Renal(390;0.00758)|Breast(348;0.00765)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-07)|COAD - Colon adenocarcinoma(152;7.51e-06)|STAD - Stomach adenocarcinoma(196;0.00306)|BRCA - Breast invasive adenocarcinoma(304;0.0241)|READ - Rectum adenocarcinoma(331;0.0649)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)	Butorphanol(DB00611)|Codeine(DB00318)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Loperamide(DB00836)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pimozide(DB01100)|Propoxyphene(DB00647)	GTGGTGGCTGCGCTGCACCTG	0.642													T	29189572	C	T	29189572	3	4	419	1	0	0	0	0	1	0	0	0	10960	768	27	1	906	1	OPRD1	1	29189572	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		29189572	220061049	1	41831											
ADC	113451	broad.mit.edu	37	chr1	33585652	33585652	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcacccctagggaagcgCtgcgaaggcagctgatggct	8	7	13	13	2	1	1	1	1	1	0	2	3	1	2	2	3	3	4	2	3	3	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:33585652C>T	ENST00000294517.6	+	12	1839	c.1252C>T	c.(1252-1254)Ctg>Ttg	p.L418L	ADC_ENST00000373441.1_Silent_p.L438L|ADC_ENST00000484656.1_3'UTR|ADC_ENST00000398167.1_Silent_p.L438L|ADC_ENST00000373443.3_Silent_p.L418L	NM_052998.2	NP_443724.1	Q96A70	ADC_HUMAN	arginine decarboxylase	418					polyamine biosynthetic process|spermatogenesis	cytosol	arginine decarboxylase activity			NS(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(2)	11		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)			L-Arginine(DB00125)|Pyridoxal Phosphate(DB00114)	TAGGGAAGCGCTGCGAAGGCA	0.637													T	33585652	C	T	33585652	2	4	419	1	0	0	0	0	0	0	0	1	287	796	28	2		2	ADC	1	33585652	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	4396080	33585652	215664969	2	41832											
KIAA0754	643314	broad.mit.edu	37	chr1	39876700	39876700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgcaggaatccagattcTcaagtgcaacctggccgagg	12	8	11	10	1	1	1	1	0	1	1	3	3	2	2	3	3	3	2	3	3	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:39876700T>C	ENST00000530275.1	+	1	550	c.355T>C	c.(355-357)Tca>Cca	p.S119P	MACF1_ENST00000539005.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000361689.2_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	119										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ATCCAGATTCTCAAGTGCAAC	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	39876700	T	C	39876700	3	2	419	1	0	0	0	0	1	0	0	0	8250	1551	54	3	765	3	KIAA0754	1	39876700	Missense_Mutation	SNP	T	TCGA-DU-A5TY-01A-11D-A289-08	6291048	39876700	209373921	3	41833											
ASB17	127247	broad.mit.edu	37	chr1	76397738	76397738	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttaaaacttacttcaaaaCggtatcctgatttttccaca	13	14	5	9	1	1	1	1	1	0	0	3	1	3	1	2	2	3	2	2	2	6	6	rs148576874		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:76397738C>T	ENST00000284142.6	-	1	378	c.239G>A	c.(238-240)cGt>cAt	p.R80H		NM_080868.2	NP_543144.1	Q8WXJ9	ASB17_HUMAN	ankyrin repeat and SOCS box containing 17	80					intracellular signal transduction					breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	21						TACTTCAAAACGGTATCCTGA	0.373													T	76397738	C	T	76397738	3	4	419	1	0	0	0	0	1	0	0	0	1026	536	19	1	660	1	ASB17	1	76397738	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	36521038	76397738	172852883	4	41834											
AMIGO1	57463	broad.mit.edu	37	chr1	110050353	110050353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggcaccagcagcggcaaggGgtgaggtataggtatatgag	11	6	17	7	2	0	2	0	2	0	0	0	2	0	2	1	6	2	5	1	6	5	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:110050353G>A	ENST00000369864.4	-	2	1531	c.1182C>T	c.(1180-1182)acC>acT	p.T394T	AMIGO1_ENST00000369862.1_Silent_p.T394T			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	394					axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		AGCGGCAAGGGGTGAGGTATA	0.547													A	110050353	G	A	110050353	2	1	419	1	0	0	0	0	0	0	0	1	575	1219	43	2		2	AMIGO1	1	110050353	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	33652615	110050353	139200268	5	41835											
ANXA9	8416	broad.mit.edu	37	chr1	150957082	150957082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcagattctgctgtggaCgtggccattgaaattcttgc	7	13	11	10	1	3	2	1	1	2	1	3	3	3	3	2	2	2	1	2	2	1	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:150957082C>T	ENST00000368947.4	+	7	878	c.402C>T	c.(400-402)gaC>gaT	p.D134D		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	134					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			CTGCTGTGGACGTGGCCATTG	0.542													T	150957082	C	T	150957082	2	4	419	1	0	0	0	0	0	0	0	1	727	535	19	1		1	ANXA9	1	150957082	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	40906729	150957082	98293539	6	41836											
CACNA1E	777	broad.mit.edu	37	chr1	181745306	181745306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcgggactcctccatcctgGggcctcaccacttggacgag	6	8	11	16	2	1	0	1	0	0	0	5	3	4	2	5	4	0	0	5	4	0	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr1:181745306G>A	ENST00000526775.1	+	37	5317	c.5152G>A	c.(5152-5154)Ggg>Agg	p.G1718R	CACNA1E_ENST00000367567.4_Missense_Mutation_p.G1344R|CACNA1E_ENST00000357570.5_Missense_Mutation_p.G1688R|CACNA1E_ENST00000360108.3_Missense_Mutation_p.G1718R|CACNA1E_ENST00000358338.5_Missense_Mutation_p.G1669R|CACNA1E_ENST00000367573.2_Missense_Mutation_p.G1737R|CACNA1E_ENST00000367570.1_Missense_Mutation_p.G1737R	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1737					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTCCATCCTGGGGCCTCACCA	0.602													A	181745306	G	A	181745306	3	1	419	1	0	0	0	0	1	0	0	0	2568	1232	43	2	5359	2	CACNA1E	1	181745306	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	30788224	181745306	67505315	7	41837											
SMC6	79677	broad.mit.edu	37	chr2	17884529	17884529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatttaatatctgggcCgtcttattttcaacctcatt	10	17	6	8	1	4	2	2	1	2	1	4	2	4	2	2	1	1	0	2	1	5	7			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:17884529C>T	ENST00000448223.2	-	19	2306	c.2037G>A	c.(2035-2037)acG>acA	p.T679T	SMC6_ENST00000402989.1_Silent_p.T679T|SMC6_ENST00000351948.4_Silent_p.T679T|SMC6_ENST00000381272.4_Silent_p.T705T	NM_001142286.1	NP_001135758.1	Q96SB8	SMC6_HUMAN	structural maintenance of chromosomes 6	679					DNA recombination|DNA repair	chromosome|nucleus	ATP binding			NS(1)|biliary_tract(1)|breast(6)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	43	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ATATCTGGGCCGTCTTATTTT	0.313													T	17884529	C	T	17884529	2	4	419	1	0	0	0	0	0	0	0	1	14881	639	23	1		1	SMC6	2	17884529	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		17884529	225314844	8	41838											
ACVR2A	92	broad.mit.edu	37	chr2	148657327	148657327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagccacttcaaatccaGttacacctaagccaccctat	13	8	3	17	0	1	0	1	0	0	0	2	0	2	0	6	0	3	1	6	0	4	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:148657327G>A	ENST00000241416.7	+	4	1024	c.388G>A	c.(388-390)Gtt>Att	p.V130I	ACVR2A_ENST00000535787.1_Missense_Mutation_p.V22I|ACVR2A_ENST00000404590.1_Missense_Mutation_p.V130I|AC009480.3_ENST00000402410.2_RNA	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	130					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		TTCAAATCCAGTTACACCTAA	0.398													A	148657327	G	A	148657327	3	1	419	1	0	0	0	0	1	0	0	0	223	1029	36	2	402	2	ACVR2A	2	148657327	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	130772798	148657327	94542046	9	41839											
ZNF385B	151126	broad.mit.edu	37	chr2	180634461	180634461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccttttcttcaaagccccGtagaaaatttgccatattca	11	13	4	13	1	3	1	2	0	1	1	3	1	3	1	5	0	2	1	5	0	5	7	rs146268620		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:180634461G>A	ENST00000410066.1	-	3	625	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_152520.4	NP_689733.3	Q569K4	Z385B_HUMAN	zinc finger protein 385B	8						nucleus	nucleic acid binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	26			Epithelial(96;0.174)|OV - Ovarian serous cystadenocarcinoma(117;0.201)			TCAAAGCCCCGTAGAAAATTT	0.413													A	180634461	G	A	180634461	3	1	419	1	0	0	0	0	1	0	0	0	17978	1144	40	1	1454	1	ZNF385B	2	180634461	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	31977134	180634461	62564912	10	41840											
IQCA1	79781	broad.mit.edu	37	chr2	237272426	237272426	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agaaatgtaatccataccttGaagactgcatgcagcatcat	15	10	7	9	0	1	3	1	1	0	2	2	3	2	3	2	0	4	4	2	0	4	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr2:237272426G>A	ENST00000409907.3	-	15	2140	c.1866C>T	c.(1864-1866)ttC>ttT	p.F622F	IQCA1_ENST00000309507.5_Silent_p.F619F|IQCA1_ENST00000431676.2_Silent_p.F581F	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	622							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCATACCTTGAAGACTGCAT	0.448													A	237272426	G	A	237272426	2	1	419	1	0	0	0	0	0	0	0	1	7860	1281	45	2		2	IQCA1	2	237272426	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	56637965	237272426	5926947	11	41841											
RAP2B	5912	broad.mit.edu	37	chr3	152880516	152880516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtggtggtgctgggctcgGgcggcgtgggcaagtccgcg	4	7	21	9	5	0	0	0	0	0	0	2	0	1	0	1	6	1	3	1	6	2	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr3:152880516G>A	ENST00000323534.2	+	1	488	c.34G>A	c.(34-36)Ggc>Agc	p.G12S		NM_002886.2	NP_002877.2	P61225	RAP2B_HUMAN	RAP2B, member of RAS oncogene family	12					Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	7			LUSC - Lung squamous cell carcinoma(72;0.0628)|Lung(72;0.11)			GCTGGGCTCGGGCGGCGTGGG	0.667													A	152880516	G	A	152880516	3	1	419	1	0	0	0	0	1	0	0	0	13129	1232	43	2	36	2	RAP2B	3	152880516	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		152880516	45141914	12	41842											
ZNF330	27309	broad.mit.edu	37	chr4	142154882	142154883	+	Frame_Shift_Del	DEL	AT	AT	-																															tctatagcacgctccctgaaAtttggcaggcagactggagg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:142154882_142154883delAT	ENST00000262990.4	+	10	930_931	c.702_703delAT	c.(700-705)aaatttfs	p.KF234fs	ZNF330_ENST00000421169.2_Frame_Shift_Del_p.KF174fs	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	234						chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GCTCCCTGAAATTTGGCAGGCA	0.416													-	142154883	AT	-	142154882	7	5	419	1	0	1	0	1	0	0	0	0	17949	98	4	0	736	0	ZNF330	4	142154882	Frame_Shift_Del	DEL	AT	TCGA-DU-A5TY-01A-11D-A289-08		142154882	48999394	13	41843											
CYP4V2	285440	broad.mit.edu	37	chr4	187118127	187118127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcgctccaggagaaagatGttaacacccactttccattt	11	11	8	11	1	0	2	0	0	0	2	2	3	2	2	3	2	1	2	3	2	2	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr4:187118127G>T	ENST00000378802.4	+	4	751	c.447G>T	c.(445-447)atG>atT	p.M149I		NM_207352.3	NP_997235.3	Q6ZWL3	CP4V2_HUMAN	cytochrome P450, family 4, subfamily V, polypeptide 2	149					response to stimulus|visual perception	endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)|stomach(2)	20		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.33e-10)|BRCA - Breast invasive adenocarcinoma(30;3.84e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000293)|LUSC - Lung squamous cell carcinoma(40;0.00242)|READ - Rectum adenocarcinoma(43;0.17)		GGAGAAAGATGTTAACACCCA	0.323													T	187118127	G	T	187118127	3	4	419	1	0	0	0	0	1	0	0	0	4225	1377	48	4	461	4	CYP4V2	4	187118127	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	44963245	187118127	4036149	14	41844											
PLEKHG4B	153478	broad.mit.edu	37	chr5	161988	161988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaggggcctgagcgccGtggtcagccaggctgagtgc	7	6	17	11	2	2	3	2	2	0	1	2	3	2	3	3	4	3	1	3	4	1	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:161988G>A	ENST00000283426.6	+	10	1560	c.1510G>A	c.(1510-1512)Gtg>Atg	p.V504M		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	504					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		CCTGAGCGCCGTGGTCAGCCA	0.617													A	161988	G	A	161988	3	1	419	1	0	0	0	0	1	0	0	0	12149	1145	40	1	1548	1	PLEKHG4B	5	161988	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		161988	180753272	15	41845											
CDH18	1016	broad.mit.edu	37	chr5	19838956	19838956	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttgggacgatgatggActtcggtttcaccttcaatg	7	14	10	10	2	2	1	2	1	0	0	3	4	2	3	2	3	0	1	2	3	1	5			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:19838956A>G	ENST00000507958.1	-	5	1130	c.140T>C	c.(139-141)gTc>gCc	p.V47A	CDH18_ENST00000511273.1_Missense_Mutation_p.V47A|CDH18_ENST00000506372.1_Missense_Mutation_p.V47A|CDH18_ENST00000274170.4_Missense_Mutation_p.V47A|CDH18_ENST00000502796.1_Missense_Mutation_p.V47A|CDH18_ENST00000382275.1_Missense_Mutation_p.V47A			Q13634	CAD18_HUMAN	cadherin 18, type 2	47					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					ACGATGATGGACTTCGGTTTC	0.433													G	19838956	A	G	19838956	3	3	419	1	0	0	0	0	1	0	0	0	3133	275	10	3	2276	3	CDH18	5	19838956	Missense_Mutation	SNP	A	TCGA-DU-A5TY-01A-11D-A289-08	19676968	19838956	161076304	16	41846											
NNT	23530	broad.mit.edu	37	chr5	43613179	43613179	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcagatgatcactatagAgtggcaggtgcccaaatcca	12	10	9	10	0	2	3	2	1	1	2	4	3	3	3	2	2	1	1	2	2	3	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:43613179A>G	ENST00000264663.5	+	3	542	c.321A>G	c.(319-321)agA>agG	p.R107R	NNT_ENST00000512996.2_5'UTR|NNT_ENST00000344920.4_Silent_p.R107R	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	107					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	ATCACTATAGAGTGGCAGGTG	0.478													G	43613179	A	G	43613179	2	3	419	1	0	0	0	0	0	0	0	1	10586	301	11	3		3	NNT	5	43613179	Silent	SNP	A	TCGA-DU-A5TY-01A-11D-A289-08	23774223	43613179	137302081	17	41847											
F2RL1	2150	broad.mit.edu	37	chr5	76129250	76129250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaatgctgcgatcttctgCcatggatgaaaactcagaga	13	9	10	9	1	3	3	1	1	2	2	3	6	3	4	1	1	4	1	1	1	3	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr5:76129250C>T	ENST00000296677.4	+	2	1024	c.818C>T	c.(817-819)gCc>gTc	p.A273V		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	273					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGATCTTCTGCCATGGATGAA	0.483													T	76129250	C	T	76129250	3	4	419	1	0	0	0	0	1	0	0	0	5386	739	26	2	824	2	F2RL1	5	76129250	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	32516071	76129250	104786010	18	41848											
TRIM39	56658	broad.mit.edu	37	chr6	30309546	30309546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctagtcctgtcagaggatcGtaagagcgtcaagttcgtgg	9	10	13	9	3	2	2	2	0	0	2	5	3	3	3	2	2	1	2	2	2	3	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:30309546G>A	ENST00000376659.5	+	8	1575	c.977G>A	c.(976-978)cGt>cAt	p.R326H	TRIM39_ENST00000540416.1_Missense_Mutation_p.R326H|TRIM39-RPP21_ENST00000513556.1_Missense_Mutation_p.R238H|TRIM39_ENST00000396551.3_Missense_Mutation_p.R326H|TRIM39_ENST00000396548.1_Missense_Mutation_p.R326H|TRIM39_ENST00000376656.4_Missense_Mutation_p.R356H|TRIM39_ENST00000396547.1_Missense_Mutation_p.R356H	NM_172016.2	NP_742013.1			tripartite motif containing 39											ovary(3)	3						TCAGAGGATCGTAAGAGCGTC	0.567													A	30309546	G	A	30309546	3	1	419	1	0	0	0	0	1	0	0	0	16614	1145	40	1	1093	1	TRIM39	6	30309546	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		30309546	140805521	19	41849											
CUL9	23113	broad.mit.edu	37	chr6	43171720	43171720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctggtgcagaacatcacctCtcccggtaaccatgctgaca	10	8	8	15	1	2	2	1	1	1	1	3	2	2	2	4	2	4	3	4	2	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:43171720C>G	ENST00000252050.4	+	20	4238	c.4154C>G	c.(4153-4155)tCt>tGt	p.S1385C	CUL9_ENST00000372647.2_Missense_Mutation_p.S1385C|CUL9_ENST00000354495.3_Missense_Mutation_p.S1275C	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	1385					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						AACATCACCTCTCCCGGTAAC	0.567													G	43171720	C	G	43171720	3	3	419	1	0	0	0	0	1	0	0	0	4094	913	32	4	4228	4	CUL9	6	43171720	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	12862174	43171720	127943347	20	41850											
OGFRL1	79627	broad.mit.edu	37	chr6	72011297	72011297	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagctcctgcggttcgccCagaaacactacacgccttca	11	7	8	15	3	1	1	1	0	0	1	3	2	2	1	3	1	4	2	3	1	3	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:72011297C>T	ENST00000370435.4	+	7	1035	c.901C>T	c.(901-903)Cag>Tag	p.Q301*	RP11-154D6.1_ENST00000586030.1_RNA|RP11-154D6.1_ENST00000591156.1_RNA|RP11-154D6.1_ENST00000432050.1_RNA|RP11-154D6.1_ENST00000412751.1_RNA|RP11-154D6.1_ENST00000588612.1_RNA|RP11-154D6.1_ENST00000587253.1_RNA|RP11-154D6.1_ENST00000586232.1_RNA|RP11-154D6.1_ENST00000423255.1_RNA|RP3-331H24.5_ENST00000602823.1_lincRNA	NM_024576.3	NP_078852.3	Q5TC84	OGRL1_HUMAN	opioid growth factor receptor-like 1	301						membrane	receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|upper_aerodigestive_tract(1)	13						GCGGTTCGCCCAGAAACACTA	0.463													T	72011297	C	T	72011297	4	4	419	1	0	0	0	0	0	1	0	0	10920	595	21	2	927	2	OGFRL1	6	72011297	Nonsense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	28839577	72011297	99103770	21	41851											
FRK	2444	broad.mit.edu	37	chr6	116277768	116277768	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaagtcatttggatccaTtgaacctgaaacaagaagag	16	8	10	7	0	1	4	1	2	0	2	2	6	2	6	2	2	2	0	2	2	5	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr6:116277768T>C	ENST00000606080.1	-	5	1251	c.805A>G	c.(805-807)Atg>Gtg	p.M269V	FRK_ENST00000538210.1_Missense_Mutation_p.M127V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	269	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		TTTGGATCCATTGAACCTGAA	0.428													C	116277768	T	C	116277768	3	2	419	1	0	0	0	0	1	0	0	0	6100	1493	52	3	728	3	FRK	6	116277768	Missense_Mutation	SNP	T	TCGA-DU-A5TY-01A-11D-A289-08	44266471	116277768	54837299	22	41852											
NPY	4852	broad.mit.edu	37	chr7	24329163	24329163	+	Silent	SNP	G	G	A																															acactgatttcagacctcttGatgagagaaagcacagaaaa																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329163G>A	ENST00000407573.1	+	4	524	c.234G>A	c.(232-234)ttG>ttA	p.L78L	NPY_ENST00000242152.2_Silent_p.L78L|NPY_ENST00000405982.1_Silent_p.L78L			P01303	NPY_HUMAN	neuropeptide Y	78					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CAGACCTCTTGATGAGAGAAA	0.438													A	24329163	G	A	24329163	2	1	419	1	0	0	0	0	0	0	0	1	10683	1281	45	2		2	NPY	7	24329163	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		24329163	134809500	23	41853	134	2									
NPY	4852	broad.mit.edu	37	chr7	24329168	24329168	+	Missense_Mutation	SNP	G	G	A																															gatttcagacctcttgatgaGagaaagcacagaaaatgttc																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:24329168G>A	ENST00000407573.1	+	4	529	c.239G>A	c.(238-240)aGa>aAa	p.R80K	NPY_ENST00000242152.2_Missense_Mutation_p.R80K|NPY_ENST00000405982.1_Missense_Mutation_p.R80K			P01303	NPY_HUMAN	neuropeptide Y	80					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity			breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						CTCTTGATGAGAGAAAGCACA	0.443													A	24329168	G	A	24329168	3	1	419	1	0	0	0	0	1	0	0	0	10683	942	33	2	245	2	NPY	7	24329168	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	5	24329168	134809495	24	41854	134	2									
HOXA5	3202	broad.mit.edu	37	chr7	27181573	27181573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtctctcggagaggcaaaGagcatgtgctatttcaatcc	10	12	10	9	1	2	2	1	0	1	2	5	3	3	2	1	2	2	3	1	2	3	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27181573G>C	ENST00000222726.3	-	2	754	c.694C>G	c.(694-696)Ctt>Gtt	p.L232V	HOXA5_ENST00000520854.1_5'UTR|HOXA-AS3_ENST00000518848.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA	NM_019102.3	NP_061975.2	P20719	HXA5_HUMAN	homeobox A5	232					negative regulation of angiogenesis|negative regulation of erythrocyte differentiation|positive regulation of apoptosis|positive regulation of myeloid cell differentiation|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(2)|lung(12)|skin(1)	16						GAGAGGCAAAGAGCATGTGCT	0.507											OREG0017911	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	27181573	G	C	27181573	3	2	419	1	0	0	0	0	1	0	0	0	7350	942	33	4	122	4	HOXA5	7	27181573	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	2852405	27181573	131957090	25	41855											
JAZF1	221895	broad.mit.edu	37	chr7	27880436	27880436	+	Missense_Mutation	SNP	C	C	G																															actctctgtggtccaggactCatcgctgtccgactcctcat																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880436C>G	ENST00000283928.5	-	4	601	c.436G>C	c.(436-438)Gag>Cag	p.E146Q	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	146					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						GTCCAGGACTCATCGCTGTCC	0.577			T	SUZ12	endometrial stromal tumours								G	27880436	C	G	27880436	3	3	419	1	0	0	0	0	1	0	0	0	8004	835	29	4	303	4	JAZF1	7	27880436	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	698863	27880436	131258227	26	41856	135	3									
JAZF1	221895	broad.mit.edu	37	chr7	27880439	27880439	+	Missense_Mutation	SNP	C	C	T																															ctctgtggtccaggactcatCgctgtccgactcctcatagt																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880439C>T	ENST00000283928.5	-	4	598	c.433G>A	c.(433-435)Gat>Aat	p.D145N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	145					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CAGGACTCATCGCTGTCCGAC	0.577			T	SUZ12	endometrial stromal tumours								T	27880439	C	T	27880439	3	4	419	1	0	0	0	0	1	0	0	0	8004	884	31	1	306	1	JAZF1	7	27880439	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	3	27880439	131258224	27	41857	135	3									
JAZF1	221895	broad.mit.edu	37	chr7	27880445	27880445	+	Missense_Mutation	SNP	C	C	T																															ggtccaggactcatcgctgtCcgactcctcatagtccacct																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:27880445C>T	ENST00000283928.5	-	4	592	c.427G>A	c.(427-429)Gac>Aac	p.D143N	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	143					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						TCATCGCTGTCCGACTCCTCA	0.577			T	SUZ12	endometrial stromal tumours								T	27880445	C	T	27880445	3	4	419	1	0	0	0	0	1	0	0	0	8004	855	30	2	312	2	JAZF1	7	27880445	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	6	27880445	131258218	28	41858	135	3									
CPVL	54504	broad.mit.edu	37	chr7	29126137	29126137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcattatttttatattcaGgaaatatctggaaaaactga	16	15	6	4	0	3	1	2	1	1	0	3	3	3	3	0	2	1	0	0	2	7	7			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126137G>A	ENST00000409850.1	-	11	1218	c.572C>T	c.(571-573)cCt>cTt	p.P191L	CPVL_ENST00000396276.3_Missense_Mutation_p.P191L|CPVL_ENST00000265394.5_Missense_Mutation_p.P191L			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	191					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TTTATATTCAGGAAATATCTG	0.338													A	29126137	G	A	29126137	3	1	419	1	0	0	0	0	1	0	0	0	3866	1000	35	2	886	2	CPVL	7	29126137	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	1245692	29126137	130012526	29	41859			1	52		2	2	20	N	G	4.234852e-05
CPVL	54504	broad.mit.edu	37	chr7	29126156	29126156	+	Frame_Shift_Del	DEL	G	G	-																															aggaaatatctggaaaaactGaattagtgcactgcaaaaag																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:29126156delG	ENST00000409850.1	-	11	1199	c.553delC	c.(553-555)cagfs	p.Q185fs	CPVL_ENST00000265394.5_Frame_Shift_Del_p.Q185fs|CPVL_ENST00000396276.3_Frame_Shift_Del_p.Q185fs			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	185					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						TGGAAAAACTGAATTAGTGCA	0.348													-	29126156	G	-	29126156	7	5	419	1	0	1	0	1	0	0	0	0	3866	1299	45	0	905	0	CPVL	7	29126156	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	19	29126156	130012507	30	41860			1	52		2	2	20	N	G	4.234852e-05
EGFR	1956	broad.mit.edu	37	chr7	55223582	55223582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctgtggggccgacagctatGagatggaggaagacggcgtc	9	6	17	9	3	0	2	0	1	0	2	1	6	0	4	2	5	1	1	2	5	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223582G>A	ENST00000275493.2	+	8	1126	c.949G>A	c.(949-951)Gag>Aag	p.E317K	EGFR_ENST00000455089.1_Missense_Mutation_p.E272K|EGFR_ENST00000344576.2_Missense_Mutation_p.E317K|EGFR_ENST00000454757.2_Missense_Mutation_p.E264K|EGFR_ENST00000442591.1_Missense_Mutation_p.E317K|EGFR_ENST00000342916.3_Missense_Mutation_p.E317K|EGFR_ENST00000420316.2_Missense_Mutation_p.E317K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	317					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGACAGCTATGAGATGGAGGA	0.597		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55223582	G	A	55223582	3	1	419	1	0	0	0	0	1	0	0	0	5006	1291	45	2	979	2	EGFR	7	55223582	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	26097426	55223582	103915081	31	41861			2	53	26097426	2	2	13	G		2.674665e-05
EGFR	1956	broad.mit.edu	37	chr7	55223594	55223594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctatgagatggaggaaGacggcgtccgcaagtgtaag	13	6	15	7	3	0	2	0	1	0	2	1	5	1	4	1	3	1	3	1	3	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:55223594G>T	ENST00000275493.2	+	8	1138	c.961G>T	c.(961-963)Gac>Tac	p.D321Y	EGFR_ENST00000455089.1_Missense_Mutation_p.D276Y|EGFR_ENST00000344576.2_Missense_Mutation_p.D321Y|EGFR_ENST00000454757.2_Missense_Mutation_p.D268Y|EGFR_ENST00000442591.1_Missense_Mutation_p.D321Y|EGFR_ENST00000342916.3_Missense_Mutation_p.D321Y|EGFR_ENST00000420316.2_Missense_Mutation_p.D321Y	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	321					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATGGAGGAAGACGGCGTCCG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223594	G	T	55223594	3	4	419	1	0	0	0	0	1	0	0	0	5006	942	33	4	991	4	EGFR	7	55223594	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	12	55223594	103915069	32	41862			2	53	26097426	2	2	13	G		2.674665e-05
CHCHD2	51142	broad.mit.edu	37	chr7	56170668	56170670	+	In_Frame_Del	DEL	GCT	GCT	-																															tttgatctcatagaggcaagGctgctgctgctgtgctggct																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:56170668_56170670delGCT	ENST00000395422.3	-	3	497_499	c.335_337delAGC	c.(334-339)cagcct>cct	p.Q112del		NM_016139.2	NP_057223.1	Q9Y6H1	CHCH2_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 2	112	CHCH.					mitochondrion				endometrium(1)|large_intestine(1)|lung(3)	5	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TAGAGGCAAGGCTGCTGCTGCTG	0.488													-	56170670	GCT	-	56170668	7	5	419	1	0	1	0	1	0	0	0	0	3346	1203	42	0	126	0	CHCHD2	7	56170668	In_Frame_Del	DEL	GCT	TCGA-DU-A5TY-01A-11D-A289-08	947074	56170668	102967995	33	41863											
FZD9	8326	broad.mit.edu	37	chr7	72849818	72849818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcggggcccggaggccGgagggactgctcgctgccag	4	3	20	14	5	0	0	0	0	0	0	1	3	0	3	4	7	2	2	4	7	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:72849818G>A	ENST00000344575.3	+	1	1710	c.1481G>A	c.(1480-1482)cGg>cAg	p.R494Q		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	494					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCCGGAGGCCGGAGGGACTGC	0.647													A	72849818	G	A	72849818	3	1	419	1	0	0	0	0	1	0	0	0	6189	1116	39	1	1483	1	FZD9	7	72849818	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	16679150	72849818	86288845	34	41864											
PTN	5764	broad.mit.edu	37	chr7	136938315	136938315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccgtgtgcccagcccaCagtctccactggtgggcaca	6	7	10	18	1	1	0	0	0	1	0	3	0	2	0	5	2	2	1	5	2	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr7:136938315C>T	ENST00000348225.2	-	3	612	c.185G>A	c.(184-186)tGt>tAt	p.C62Y	PTN_ENST00000393083.2_Missense_Mutation_p.C62Y	NM_002825.5	NP_002816.1	P21246	PTN_HUMAN	pleiotrophin	62					nervous system development|positive regulation of cell division|positive regulation of cell proliferation|transmembrane receptor protein tyrosine phosphatase signaling pathway	endoplasmic reticulum|extracellular space	growth factor activity|heparin binding|protein phosphatase inhibitor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23						GCCCAGCCCACAGTCTCCACT	0.498													T	136938315	C	T	136938315	3	4	419	1	0	0	0	0	1	0	0	0	12854	478	17	2	333	2	PTN	7	136938315	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	64088497	136938315	22200348	35	41865											
KCNT1	57582	broad.mit.edu	37	chr9	138669222	138669222	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgaagacgccaaggcctaCgggttcaagaacaagctgat	14	7	11	9	2	1	4	1	2	0	2	1	4	1	4	2	2	3	2	2	2	7	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:138669222C>T	ENST00000298480.5	+	21	2462	c.2388C>T	c.(2386-2388)taC>taT	p.Y796Y	KCNT1_ENST00000263604.3_Silent_p.Y777Y|KCNT1_ENST00000486577.2_Silent_p.Y755Y|KCNT1_ENST00000487664.1_Silent_p.Y751Y|KCNT1_ENST00000490355.2_Silent_p.Y775Y|KCNT1_ENST00000491806.2_Silent_p.Y763Y|KCNT1_ENST00000488444.2_Silent_p.Y777Y|KCNT1_ENST00000371757.2_Silent_p.Y796Y			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	796						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCAAGGCCTACGGGTTCAAGA	0.602													T	138669222	C	T	138669222	2	4	419	1	0	0	0	0	0	0	0	1	8149	547	19	1		1	KCNT1	9	138669222	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		138669222	2544209	36	41866											
TRAF2	7186	broad.mit.edu	37	chr9	139815644	139815644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggaagctgtggctggccGcatacccgccatcttctccc	6	8	10	17	2	2	0	0	0	2	0	3	1	2	1	5	3	2	3	5	3	2	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr9:139815644G>A	ENST00000359662.3	+	9	1316	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	TRAF2_ENST00000536468.1_Missense_Mutation_p.R372H|TRAF2_ENST00000247668.2_Missense_Mutation_p.R372H			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	372	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		GTGGCTGGCCGCATACCCGCC	0.592													A	139815644	G	A	139815644	3	1	419	1	0	0	0	0	1	0	0	0	16539	1087	38	1	1145	1	TRAF2	9	139815644	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	1146422	139815644	1397787	37	41867											
PHRF1	57661	broad.mit.edu	37	chr11	592586	592588	+	In_Frame_Del	DEL	GAG	GAG	-																															tggagaacaccaaagcgagcGaggaggaggaggacccgacc																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:592586_592588delGAG	ENST00000264555.5	+	6	660_662	c.532_534delGAG	c.(532-534)gagdel	p.E181del	PHRF1_ENST00000416188.2_In_Frame_Del_p.E181del|PHRF1_ENST00000533464.1_In_Frame_Del_p.E177del|PHRF1_ENST00000413872.2_In_Frame_Del_p.E180del	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	181	Poly-Glu.						RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CAAAGCGAGCGAGGAGGAGGAGG	0.616													-	592588	GAG	-	592586	7	5	419	1	0	1	0	1	0	0	0	0	11938	1059	37	0	550	0	PHRF1	11	592586	In_Frame_Del	DEL	GAG	TCGA-DU-A5TY-01A-11D-A289-08		592586	134413930	38	41868											
GRM5	2915	broad.mit.edu	37	chr11	88780946	88780946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccaataatgatgtcacccGgcatgtgagccaccaccctc	10	8	7	16	1	1	2	1	2	0	0	3	2	2	2	5	1	1	1	5	1	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr11:88780946G>A	ENST00000418177.2	-	2	462	c.95C>T	c.(94-96)cCg>cTg	p.P32L	GRM5_ENST00000305447.4_Missense_Mutation_p.P32L|GRM5_ENST00000455756.2_Missense_Mutation_p.P32L|GRM5_ENST00000305432.5_Missense_Mutation_p.P32L|GRM5_ENST00000393294.3_Missense_Mutation_p.P32L|GRM5_ENST00000393297.1_Missense_Mutation_p.P32L			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	32					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	p.P32Q(2)|p.P32L(1)		NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	GATGTCACCCGGCATGTGAGC	0.502													A	88780946	G	A	88780946	3	1	419	1	0	0	0	0	1	0	0	0	6855	1116	39	1	3579	1	GRM5	11	88780946	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	88188360	88780946	46225570	39	41869											
ARID2	196528	broad.mit.edu	37	chr12	46231286	46231286	+	Missense_Mutation	SNP	G	G	A																															ttgtatgtttttcaggcatgGaaattttgggaaatctttgc																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231286G>A	ENST00000334344.6	+	10	1298	c.1126G>A	c.(1126-1128)Gaa>Aaa	p.E376K	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.E227K|ARID2_ENST00000444670.1_Missense_Mutation_p.E5K	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	376					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	p.E376*(1)		NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCAGGCATGGAAATTTTGGG	0.303			"N, S, F"		hepatocellular carcinoma								A	46231286	G	A	46231286	3	1	419	1	0	0	0	0	1	0	0	0	918	1175	41	2	1164	2	ARID2	12	46231286	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		46231286	87620609	40	41870	136	2									
ARID2	196528	broad.mit.edu	37	chr12	46231295	46231295	+	Missense_Mutation	SNP	G	G	C																															tttcaggcatggaaattttgGgaaatctttgcaaagcagaa																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:46231295G>C	ENST00000334344.6	+	10	1307	c.1135G>C	c.(1135-1137)Gga>Cga	p.G379R	ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.G230R|ARID2_ENST00000444670.1_Missense_Mutation_p.G8R	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	379					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GGAAATTTTGGGAAATCTTTG	0.318			"N, S, F"		hepatocellular carcinoma								C	46231295	G	C	46231295	3	2	419	1	0	0	0	0	1	0	0	0	918	1233	43	4	1173	4	ARID2	12	46231295	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	9	46231295	87620600	41	41871	136	2									
KRT5	3852	broad.mit.edu	37	chr12	52913802	52913802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctccaaagccatagccGcctccagcaccagcaccaaa	13	3	5	20	1	0	0	0	0	0	0	2	0	2	0	9	0	4	2	9	0	3	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:52913802G>A	ENST00000252242.4	-	1	669	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	93	Gly-rich.|Head.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		agccatagccgcctccagcac	0.617													A	52913802	G	A	52913802	2	1	419	1	0	0	0	0	0	0	0	1	8537	1074	38	1		1	KRT5	12	52913802	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6682507	52913802	80938093	42	41872											
MBD6	114785	broad.mit.edu	37	chr12	57919681	57919681	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggggcccccacggtGgaggggcctggggcaccccc	4	3	19	15	1	0	0	0	0	0	0	0	2	0	2	5	9	0	1	5	9	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57919681G>A	ENST00000355673.3	+	6	1286	c.930G>A	c.(928-930)gtG>gtA	p.V310V	MBD6_ENST00000431731.2_Silent_p.V310V	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	310	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CCCCCACGGTGGAGGGGCCTG	0.687													A	57919681	G	A	57919681	2	1	419	1	0	0	0	0	0	0	0	1	9423	1335	47	2		2	MBD6	12	57919681	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	5005879	57919681	75932214	43	41873											
KIF5A	3798	broad.mit.edu	37	chr12	57972048	57972048	+	Frame_Shift_Del	DEL	G	G	-																															aaatggagcccgaagacagtGgggggattcactcccaaaag																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:57972048delG	ENST00000455537.2	+	23	2735	c.2461delG	c.(2461-2463)gggfs	p.G822fs	KIF5A_ENST00000286452.5_Frame_Shift_Del_p.G733fs	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	822					blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CGAAGACAGTGGGGGGATTCA	0.502													-	57972048	G	-	57972048	7	5	419	1	0	1	0	1	0	0	0	0	8363	1348	47	0	2551	0	KIF5A	12	57972048	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	52367	57972048	75879847	44	41874											
TSFM	10102	broad.mit.edu	37	chr12	58177051	58177052	+	Frame_Shift_Ins	INS	-	-	G																															aagctctggagacttgtggcINSggggacctcaaacaggtgtg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58177051_58177052insG	ENST00000454289.3	+	2	429_430	c.216_217insG	c.(217-219)gggfs	p.G73fs	TSFM_ENST00000540550.1_Frame_Shift_Ins_p.G73fs|RP11-571M6.15_ENST00000471530.1_Frame_Shift_Ins_p.AG87fs|TSFM_ENST00000497617.1_3'UTR|TSFM_ENST00000548851.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000543727.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000350762.5_5'UTR|RP11-571M6.15_ENST00000553083.1_3'UTR|TSFM_ENST00000550559.1_Frame_Shift_Ins_p.G73fs|TSFM_ENST00000323833.8_Frame_Shift_Ins_p.G73fs	NM_005726.5	NP_005717.3	P43897	EFTS_HUMAN	Ts translation elongation factor, mitochondrial	73					regulation of transcription elongation, DNA-dependent	mitochondrion|nucleus	translation elongation factor activity			endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)	8	all_cancers(7;6.31e-80)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGACTTGTGGCGGGGACCTCAA	0.569													G	58177052	-	G	58177051	7	5	419	1	0	1	1	0	0	0	0	0	16716	755	27	0	222	0	TSFM	12	58177051	Frame_Shift_Ins	INS	-	TCGA-DU-A5TY-01A-11D-A289-08	205003	58177051	75674844	45	41875											
AVIL	10677	broad.mit.edu	37	chr12	58204896	58204896	+	Frame_Shift_Del	DEL	C	C	-																															gcttcatcccagaggcgacaCccccctgcttgtagctaagg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:58204896delC	ENST00000537081.1	-	4	331	c.332delG	c.(331-333)ggtfs	p.G111fs	AVIL_ENST00000257861.3_Frame_Shift_Del_p.G118fs			O75366	AVIL_HUMAN	advillin	118	Core (By similarity).|Polyphosphoinositide binding (By similarity).				actin filament capping|cilium morphogenesis|cytoskeleton organization|positive regulation of neuron projection development	actin cytoskeleton|axon|cytoplasm	actin binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					AGAGGCGACACCCCCCTGCTT	0.512													-	58204896	C	-	58204896	7	5	419	1	0	1	0	1	0	0	0	0	1232	507	18	0	2170	0	AVIL	12	58204896	Frame_Shift_Del	DEL	C	TCGA-DU-A5TY-01A-11D-A289-08	27845	58204896	75646999	46	41876											
C12orf56	115749	broad.mit.edu	37	chr12	64746733	64746733	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaatttcctgacactgtttGactttttacactcttttttc	7	20	5	9	0	1	2	0	2	1	0	3	3	2	3	1	1	1	1	1	1	2	8			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:64746733G>C	ENST00000543942.2	-	2	982	c.356C>G	c.(355-357)tCa>tGa	p.S119*	C12orf56_ENST00000333722.5_Nonsense_Mutation_p.S119*|RPS11P6_ENST00000535684.1_RNA	NM_001170633.1	NP_001164104.1	Q8IXR9	CL056_HUMAN	chromosome 12 open reading frame 56	119										NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)	15			GBM - Glioblastoma multiforme(3;0.000582)	GBM - Glioblastoma multiforme(28;0.0259)		GACACTGTTTGACTTTTTACA	0.358													C	64746733	G	C	64746733	4	2	419	1	0	0	0	0	0	1	0	0	1713	1294	45	4	1560	4	C12orf56	12	64746733	Nonsense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6541837	64746733	69105162	47	41877											
PTPRR	5801	broad.mit.edu	37	chr12	71094989	71094989	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaccttgtgagaattcggctGgctgactgcagatactccat	9	11	11	10	1	0	3	0	2	0	2	2	5	1	3	2	2	2	3	2	2	2	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71094989G>A	ENST00000283228.2	-	7	1574	c.1122C>T	c.(1120-1122)gcC>gcT	p.A374A	PTPRR_ENST00000378778.1_Silent_p.A168A|PTPRR_ENST00000440835.2_Silent_p.A129A|PTPRR_ENST00000342084.4_Silent_p.A262A|PTPRR_ENST00000549308.1_Silent_p.A129A	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	374					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GAATTCGGCTGGCTGACTGCA	0.453													A	71094989	G	A	71094989	2	1	419	1	0	0	0	0	0	0	0	1	12898	1335	47	2		2	PTPRR	12	71094989	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	6348256	71094989	62756906	48	41878			3	54		2	2	12	G		2.451779e-05
PTPRR	5801	broad.mit.edu	37	chr12	71095000	71095000	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcggctggctgactgcaGatactccattgctaccttct	8	13	8	12	1	1	2	0	1	1	1	3	2	2	2	2	2	4	4	2	2	3	5			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:71095000G>A	ENST00000283228.2	-	7	1563	c.1111C>T	c.(1111-1113)Ctg>Ttg	p.L371L	PTPRR_ENST00000378778.1_Silent_p.L165L|PTPRR_ENST00000440835.2_Silent_p.L126L|PTPRR_ENST00000342084.4_Silent_p.L259L|PTPRR_ENST00000549308.1_Silent_p.L126L	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	371					in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		GCTGACTGCAGATACTCCATT	0.468													A	71095000	G	A	71095000	2	1	419	1	0	0	0	0	0	0	0	1	12898	933	33	2		2	PTPRR	12	71095000	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	11	71095000	62756895	49	41879			3	54		2	2	12	G		2.451779e-05
KSR2	283455	broad.mit.edu	37	chr12	117962802	117962802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctcaatgtcaatcagccGgatggccacctcgccatgcc	8	8	8	17	2	3	0	3	0	1	0	5	1	3	1	6	2	2	0	6	2	2	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr12:117962802G>A	ENST00000425217.1	-	14	2041	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	KSR2_ENST00000302438.5_Missense_Mutation_p.R389W|KSR2_ENST00000339824.5_Missense_Mutation_p.R692W|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	692					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TCAATCAGCCGGATGGCCACC	0.597													A	117962802	G	A	117962802	3	1	419	1	0	0	0	0	1	0	0	0	8641	1115	39	1	806	1	KSR2	12	117962802	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	46867802	117962802	15889093	50	41880											
AMN	81693	broad.mit.edu	37	chr14	103396394	103396394	+	Frame_Shift_Del	DEL	G	G	-																															cggagcggggcggctggcccGggccctcctggcggacgtcg																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr14:103396394delG	ENST00000299155.5	+	9	1010	c.977delG	c.(976-978)cggfs	p.R326fs		NM_030943.3	NP_112205.2	Q9BXJ7	AMNLS_HUMAN	amnion associated transmembrane protein	326					lipid metabolic process|lipoprotein metabolic process|multicellular organismal development	integral to membrane|plasma membrane				kidney(2)|large_intestine(1)|lung(2)|skin(1)	6				Colorectal(3;0.00739)|READ - Rectum adenocarcinoma(2;0.0336)|Epithelial(152;0.0363)|all cancers(159;0.147)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CGGCTGGCCCGGGCCCTCCTG	0.761													-	103396394	G	-	103396394	7	5	419	1	0	1	0	1	0	0	0	0	580	1116	39	0	1011	0	AMN	14	103396394	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08		103396394	3953146	51	41881											
ISLR2	57611	broad.mit.edu	37	chr15	74426192	74426192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagctgggcgccaactctaCgtcaatacgcgtggcggtgg	7	8	15	11	5	2	1	1	1	1	0	2	1	2	1	1	4	4	1	1	4	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr15:74426192C>T	ENST00000361742.3	+	4	1866	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Missense_Mutation_p.T366M|ISLR2_ENST00000453268.2_Missense_Mutation_p.T366M|ISLR2_ENST00000565540.1_Missense_Mutation_p.T366M|ISLR2_ENST00000435464.1_Missense_Mutation_p.T366M|ISLR2_ENST00000419208.1_Missense_Mutation_p.T366M|ISLR2_ENST00000445793.1_Missense_Mutation_p.T366M	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	366	Ig-like.				positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						GCCAACTCTACGTCAATACGC	0.672													T	74426192	C	T	74426192	3	4	419	1	0	0	0	0	1	0	0	0	7917	536	19	1	1099	1	ISLR2	15	74426192	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		74426192	28105200	52	41882											
GNAO1	2775	broad.mit.edu	37	chr16	56377821	56377821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgatgctgtgacggacGtcatcatcgccaaaaacctg	10	11	9	11	3	3	2	2	2	1	0	4	3	3	3	2	1	2	1	2	1	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:56377821G>A	ENST00000262494.7	+	8	1284	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	GNAO1_ENST00000262493.6_Intron	NM_138736.2	NP_620073.2	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	342					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				TGTGACGGACGTCATCATCGC	0.622													A	56377821	G	A	56377821	3	1	419	1	0	0	0	0	1	0	0	0	6564	1145	40	1	1054	1	GNAO1	16	56377821	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		56377821	33976932	53	41883											
DPEP3	64180	broad.mit.edu	37	chr16	68014019	68014019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccacgagtgggaaactccGcatcagggcctgcgcgcgac	8	5	14	14	5	1	0	1	0	0	0	3	3	3	1	3	2	2	1	3	2	1	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr16:68014019G>A	ENST00000268793.4	-	1	713	c.340C>T	c.(340-342)Cgg>Tgg	p.R114W	DPEP3_ENST00000574342.1_5'UTR	NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	89					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		GGGAAACTCCGCATCAGGGCC	0.652													A	68014019	G	A	68014019	3	1	419	1	0	0	0	0	1	0	0	0	4754	1086	38	1	1241	1	DPEP3	16	68014019	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	11636198	68014019	22340734	54	41884											
KRT24	192666	broad.mit.edu	37	chr17	38857428	38857428	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtaggctagctcctcGgtgaaactctcaatctgcat	9	11	9	12	1	3	1	2	1	2	0	6	1	4	1	1	3	3	4	1	3	4	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:38857428G>A	ENST00000264651.2	-	3	875	c.819C>T	c.(817-819)acC>acT	p.T273T		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	273	Coil 1B.|Rod.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				CTAGCTCCTCGGTGAAACTCT	0.498													A	38857428	G	A	38857428	2	1	419	1	0	0	0	0	0	0	0	1	8519	1103	39	1		1	KRT24	17	38857428	Silent	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		38857428	42337782	55	41885											
KRTAP1-5	83895	broad.mit.edu	37	chr17	39183089	39183089	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcacagctccactgctgcCctcctggccatagctgatgc	6	9	9	17	0	1	1	1	1	0	0	3	1	3	1	4	1	5	4	4	1	1	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr17:39183089C>T	ENST00000361883.5	-	1	365	c.319G>A	c.(319-321)Ggc>Agc	p.G107S		NM_031957.1	NP_114163.1	Q9BYS1	KRA15_HUMAN	keratin associated protein 1-5	107	15 X 5 AA repeats of C-C-[QEPVRC]- [TPIVLE]-[SRHVP].					keratin filament				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)			CCACTGCTGCCCTCCTGGCCA	0.637													T	39183089	C	T	39183089	3	4	419	1	0	0	0	0	1	0	0	0	8562	623	22	2	209	2	KRTAP1-5	17	39183089	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	325661	39183089	42012121	56	41886											
ANKRD30B	374860	broad.mit.edu	37	chr18	14850277	14850277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattaaaagaaaaaattagaCccgaagagcaacttaggaaa	22	7	7	5	1	0	3	0	0	0	3	0	5	0	4	1	1	2	1	1	1	11	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:14850277C>A	ENST00000358984.4	+	35	3283	c.3103C>A	c.(3103-3105)Ccc>Acc	p.P1035T		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1120										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AAAAATTAGACCCGAAGAGCA	0.284													A	14850277	C	A	14850277	3	1	419	1	0	0	0	0	1	0	0	0	659	507	18	4	3241	4	ANKRD30B	18	14850277	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		14850277	63226971	57	41887											
DSG1	1828	broad.mit.edu	37	chr18	28923927	28923927	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccacaaataccacctgataaCgcaaatataattgaatgcat	18	9	4	10	1	0	2	0	2	0	0	0	2	0	2	3	0	3	2	3	0	7	5			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:28923927C>T	ENST00000257192.4	+	13	2072	c.1860C>T	c.(1858-1860)aaC>aaT	p.N620N	DSG1_ENST00000462981.2_5'UTR|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578119.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	620					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CACCTGATAACGCAAATATAA	0.323													T	28923927	C	T	28923927	2	4	419	1	0	0	0	0	0	0	0	1	4815	535	19	1		1	DSG1	18	28923927	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	14073650	28923927	49153321	58	41888											
CCBE1	147372	broad.mit.edu	37	chr18	57136832	57136832	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggagcctcggcacaaacGtcgtaatctgaaaaagcaaa	16	5	10	10	3	1	1	0	1	1	0	3	2	1	2	1	2	3	3	1	2	5	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr18:57136832G>A	ENST00000398179.2	-	0	62				CCBE1_ENST00000439986.4_Silent_p.D91D			Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1						lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGCACAAACGTCGTAATCTG	0.552													A	57136832	G	A	57136832	1	1	419	1	0	0	0	0	0	0	0	0	2757	1136	40	1		1	CCBE1	18	57136832	Translation_Start_Site	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	28212905	57136832	20940416	59	41889											
BTBD2	55643	broad.mit.edu	37	chr19	1987539	1987539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgtagccccagcgactctCcacctgctggaagcggttga	7	8	12	14	2	1	1	0	1	1	0	2	3	1	2	4	2	4	4	4	2	2	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:1987539C>T	ENST00000255608.4	-	6	1157	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_017797.3	NP_060267.2	Q9BX70	BTBD2_HUMAN	BTB (POZ) domain containing 2	381						cytoplasmic mRNA processing body	protein binding			endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)	12		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		CAGCGACTCTCCACCTGCTGG	0.667													T	1987539	C	T	1987539	3	4	419	1	0	0	0	0	1	0	0	0	1553	864	30	2	452	2	BTBD2	19	1987539	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		1987539	57141444	60	41890											
ILF3	3609	broad.mit.edu	37	chr19	10793939	10793939	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaagcgcttcgtcatggagGtgcgcagcctgaagctgcct	8	8	13	12	3	1	1	1	1	0	0	2	2	1	2	2	2	5	3	2	2	2	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:10793939G>A	ENST00000449870.1	+	14	2003		c.e14+1		ILF3_ENST00000407004.3_Splice_Site|ILF3_ENST00000318511.3_Splice_Site|ILF3_ENST00000588657.1_Splice_Site|ILF3_ENST00000420083.1_Splice_Site|ILF3_ENST00000592763.1_Splice_Site|ILF3_ENST00000250241.8_Splice_Site|ILF3_ENST00000589998.1_Splice_Site|ILF3_ENST00000590261.1_Splice_Site	NM_017620.2	NP_060090.2	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa						M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			CGTCATGGAGGTGCGCAGCCT	0.637													A	10793939	G	A	10793939	5	1	419	1	0	0	0	0	0	0	1	0	7770	1275	44	2	1737	2	ILF3	19	10793939	Splice_Site	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	8806400	10793939	48335044	61	41891											
SLC5A5	6528	broad.mit.edu	37	chr19	18001745	18001745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattgttgtggtgggacctcGcacggcagacagcatcagtg	8	9	15	9	2	1	1	1	0	0	1	2	3	1	2	1	3	1	4	1	3	0	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:18001745G>A	ENST00000222248.3	+	14	2049	c.1702G>A	c.(1702-1704)Gca>Aca	p.A568T		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	568					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.A568T(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GTGGGACCTCGCACGGCAGAC	0.592													A	18001745	G	A	18001745	3	1	419	1	0	0	0	0	1	0	0	0	14762	1087	38	1	1756	1	SLC5A5	19	18001745	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	7207806	18001745	41127238	62	41892											
NAPSA	9476	broad.mit.edu	37	chr19	50864253	50864253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagcccctgctccaccagtaCatccatcgggggccgaactc	8	7	9	17	2	0	0	0	0	0	0	4	1	2	0	6	2	4	2	6	2	3	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr19:50864253C>T	ENST00000253719.2	-	5	821	c.613G>A	c.(613-615)Gta>Ata	p.V205I	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	205					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCACCAGTACATCCATCGGG	0.527													T	50864253	C	T	50864253	3	4	419	1	0	0	0	0	1	0	0	0	10242	478	17	2	669	2	NAPSA	19	50864253	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	32862508	50864253	8264730	63	41893											
SSTR4	6754	broad.mit.edu	37	chr20	23016235	23016235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggaggaggcggtggcggggCccggggacgcgcgggcggcg	3	1	26	11	9	0	0	0	0	0	0	0	3	0	3	1	11	0	0	1	11	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr20:23016235C>T	ENST00000255008.3	+	1	179	c.115C>T	c.(115-117)Ccc>Tcc	p.P39S	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	39					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					GGTggcggggcccggggacgc	0.736													T	23016235	C	T	23016235	3	4	419	1	0	0	0	0	1	0	0	0	15296	739	26	2	117	2	SSTR4	20	23016235	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		23016235	40009285	64	41894											
UMODL1	89766	broad.mit.edu	37	chr21	43539224	43539224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctctttccccgcaggtgCggggctccctgccagccacc	3	7	12	19	2	1	0	0	0	1	0	3	0	3	0	7	4	3	2	7	4	0	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chr21:43539224C>T	ENST00000400424.2	+	15	2659	c.2263C>T	c.(2263-2265)Cgg>Tgg	p.R755W	UMODL1_ENST00000400427.1_Missense_Mutation_p.R883W|UMODL1_ENST00000408989.2_Missense_Mutation_p.R955W|UMODL1_ENST00000408910.2_Missense_Mutation_p.R827W	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		Fibronectin type-III 2.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CCCGCAGGTGCGGGGCTCCCT	0.632													T	43539224	C	T	43539224	3	4	419	1	0	0	0	0	1	0	0	0	17082	759	27	1	2917	1	UMODL1	21	43539224	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08		43539224	4590671	65	41895											
SUV39H1	6839	broad.mit.edu	37	chrX	48559033	48559033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaatcgtgtggtacagaaGggtatccgatatgacctctg	11	10	11	9	2	1	2	0	1	1	1	3	3	2	2	3	2	1	2	3	2	5	3			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:48559033G>C	ENST00000376687.3	+	3	907	c.717G>C	c.(715-717)aaG>aaC	p.K239N	AF196970.3_ENST00000416061.1_RNA|SUV39H1_ENST00000337852.6_Missense_Mutation_p.K250N|SUV39H1_ENST00000453214.2_Missense_Mutation_p.R87T	NM_003173.2	NP_003164.1	O43463	SUV91_HUMAN	suppressor of variegation 3-9 homolog 1 (Drosophila)	239	Pre-SET.				cell cycle|cell differentiation|chromatin silencing at rDNA|interspecies interaction between organisms|rRNA processing|transcription, DNA-dependent	chromatin silencing complex|chromosome, centromeric region|condensed nuclear chromosome|rDNA heterochromatin	chromatin binding|histone methyltransferase activity (H3-K9 specific)|protein N-terminus binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14						TGGTACAGAAGGGTATCCGAT	0.607													C	48559033	G	C	48559033	3	2	419	1	0	0	0	0	1	0	0	0	15508	991	35	4	727	4	SUV39H1	23	48559033	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08		48559033	106711527	66	41896											
SHROOM4	57477	broad.mit.edu	37	chrX	50378311	50378311	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcctgtggacgggatgaCatctgagagctgggggtcag	7	8	16	10	1	2	2	1	2	1	1	3	5	3	4	2	4	1	1	2	4	0	0			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:50378311C>A	ENST00000376020.2	-	4	787	c.762G>T	c.(760-762)atG>atT	p.M254I	SHROOM4_ENST00000289292.7_Missense_Mutation_p.M254I|SHROOM4_ENST00000460112.3_Missense_Mutation_p.M138I	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	254					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GACGGGATGACATCTGAGAGC	0.652													A	50378311	C	A	50378311	3	1	419	1	0	0	0	0	1	0	0	0	14390	478	17	4	3743	4	SHROOM4	23	50378311	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	1819278	50378311	104892249	67	41897											
HEPH	9843	broad.mit.edu	37	chrX	65414952	65414952	+	Frame_Shift_Del	DEL	G	G	-																															ttttccagggccagtgatccGggctgaggtgggtgacacca																										TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:65414952delG	ENST00000519389.1	+	9	1723	c.1544delG	c.(1543-1545)cggfs	p.R515fs	HEPH_ENST00000441993.2_Frame_Shift_Del_p.R464fs|HEPH_ENST00000343002.2_Frame_Shift_Del_p.R461fs|HEPH_ENST00000419594.1_Frame_Shift_Del_p.R464fs|HEPH_ENST00000374727.3_Frame_Shift_Del_p.R464fs|HEPH_ENST00000336279.5_Frame_Shift_Del_p.R194fs			Q9BQS7	HEPH_HUMAN	hephaestin	461	Plastocyanin-like 3.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CCAGTGATCCGGGCTGAGGTG	0.502													-	65414952	G	-	65414952	7	5	419	1	0	1	0	1	0	0	0	0	7109	1116	39	0	1578	0	HEPH	23	65414952	Frame_Shift_Del	DEL	G	TCGA-DU-A5TY-01A-11D-A289-08	15036641	65414952	89855608	68	41898											
RNF128	79589	broad.mit.edu	37	chrX	105937389	105937389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagacatgtgaatgtggcGtttatggattagcttcacca	11	13	11	6	1	1	2	1	1	0	1	1	4	1	3	1	2	1	2	1	2	4	5	rs146627932		TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:105937389G>A	ENST00000324342.3	+	1	322	c.157G>A	c.(157-159)Gtt>Att	p.V53I		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	70						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						TGAATGTGGCGTTTATGGATT	0.398													A	105937389	G	A	105937389	3	1	419	1	0	0	0	0	1	0	0	0	13527	1145	40	1	159	1	RNF128	23	105937389	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	40522437	105937389	49333171	69	41899											
VSIG1	340547	broad.mit.edu	37	chrX	107316040	107316040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaacttgagggaagagacatCgtgccagtgaaagaaaactt	17	7	11	6	1	0	4	0	2	0	2	1	6	0	5	1	1	3	0	1	1	5	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:107316040C>T	ENST00000415430.3	+	5	815	c.654C>T	c.(652-654)atC>atT	p.I218I	VSIG1_ENST00000485533.1_3'UTR|VSIG1_ENST00000217957.5_Silent_p.I182I	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	182	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						GAAGAGACATCGTGCCAGTGA	0.507													T	107316040	C	T	107316040	2	4	419	1	0	0	0	0	0	0	0	1	17324	874	31	1		1	VSIG1	23	107316040	Silent	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	1378651	107316040	47954520	70	41900											
RGAG1	57529	broad.mit.edu	37	chrX	109698484	109698484	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcatggagacccccaaGaaggtcttcatgatcacctt	13	8	9	11	0	3	4	2	1	1	3	3	5	3	4	3	2	1	1	3	2	3	2			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:109698484G>T	ENST00000465301.2	+	4	4348	c.4102G>T	c.(4102-4104)Gaa>Taa	p.E1368*	RGAG1_ENST00000540313.1_Nonsense_Mutation_p.E1368*	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	1368										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AGACCCCCAAGAAGGTCTTCA	0.468													T	109698484	G	T	109698484	4	4	419	1	0	0	0	0	0	1	0	0	13362	943	33	4	4108	4	RGAG1	23	109698484	Nonsense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	2382444	109698484	45572076	71	41901											
SH2D1A	4068	broad.mit.edu	37	chrX	123480556	123480556	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgagaagctcctgcttGccactgggctggatggcagc	6	7	15	13	2	0	1	0	0	0	1	1	3	1	2	3	4	4	4	3	4	1	1			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123480556G>T	ENST00000371139.4	+	1	363	c.64G>T	c.(64-66)Gcc>Tcc	p.A22S	SH2D1A_ENST00000477673.2_Missense_Mutation_p.A22S|SH2D1A_ENST00000360027.4_Missense_Mutation_p.A22S|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	22	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						GCTCCTGCTTGCCACTGGGCT	0.592													T	123480556	G	T	123480556	3	4	419	1	0	0	0	0	1	0	0	0	14323	1319	46	4	66	4	SH2D1A	23	123480556	Missense_Mutation	SNP	G	TCGA-DU-A5TY-01A-11D-A289-08	13782072	123480556	31790004	72	41902											
SH2D1A	4068	broad.mit.edu	37	chrX	123504071	123504071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccggaaaataaaaaatCtcatttcagcatttcagaag	17	12	5	7	1	3	1	3	0	1	1	5	2	4	2	1	1	1	1	1	1	6	4			TCGA-DU-A5TY-01A-11D-A289-08	TCGA-DU-A5TY-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f67c0a13-44dc-4ff8-ba42-5cbcc6bde50c	e2271f72-fda1-4d00-9193-3358cce053de	g.chrX:123504071C>G	ENST00000371139.4	+	3	546	c.247C>G	c.(247-249)Ctc>Gtc	p.L83V	SH2D1A_ENST00000477673.2_Intron|SH2D1A_ENST00000360027.4_Missense_Mutation_p.L83V|STAG2_ENST00000469481.1_Intron|SH2D1A_ENST00000491950.1_3'UTR	NM_001114937.2|NM_002351.4	NP_001108409.1|NP_002342.1	O60880	SH21A_HUMAN	SH2 domain containing 1A	83	SH2.				cell-cell signaling|cellular defense response	cytoplasm	SH3/SH2 adaptor activity	p.L83V(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						AATAAAAAATCTCATTTCAGC	0.373													G	123504071	C	G	123504071	3	3	419	1	0	0	0	0	1	0	0	0	14323	913	32	4	257	4	SH2D1A	23	123504071	Missense_Mutation	SNP	C	TCGA-DU-A5TY-01A-11D-A289-08	23515	123504071	31766489	73	41903											
USP24	23358	broad.mit.edu	37	chr1	55569612	55569612	+	Frame_Shift_Del	DEL	A	A	-																															gaaagcagttcttttataatAatttgaagatttgaaggtga																										TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr1:55569612delA	ENST00000294383.6	-	42	4961	c.4962delT	c.(4960-4962)attfs	p.I1656fs	USP24_ENST00000407756.1_Frame_Shift_Del_p.I1496fs	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1656					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CTTTTATAATAATTTGAAGAT	0.383													-	55569612	A	-	55569612	7	5	420	1	0	1	0	1	0	0	0	0	17157	358	13	0	3008	0	USP24	1	55569612	Frame_Shift_Del	DEL	A	TCGA-DU-A6S2-01A-21D-A32B-08		55569612	193681009	1	41904											
FUBP1	8880	broad.mit.edu	37	chr1	78430388	78430389	+	Frame_Shift_Ins	INS	-	-	AG																															cattccgaacttctctgaaaINSccgccttgatcacgaattaa																										TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr1:78430388_78430389insAG	ENST00000370767.1	-	10	866_867	c.779_780insCT	c.(778-780)ggtfs	p.G260fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.G260fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.G281fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	260					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTTCTCTGAAACCGCCTTGATC	0.347			"F, N"		oligodendroglioma								AG	78430389	-	AG	78430388	7	5	420	1	0	1	1	0	0	0	0	0	6144	30	2	0	1198	0	FUBP1	1	78430388	Frame_Shift_Ins	INS	-	TCGA-DU-A6S2-01A-21D-A32B-08	22860776	78430388	170820233	2	41905											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	420	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		209113112	34086261	3	41906											
LIMCH1	22998	broad.mit.edu	37	chr4	41687760	41687760	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagcagacatcaaatccaaCgcacagttcagaagatgtga	16	7	8	10	1	3	4	3	1	0	3	4	4	4	4	1	0	2	3	1	0	3	1	rs147660035		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:41687760C>T	ENST00000313860.7	+	23	2903	c.2849C>T	c.(2848-2850)aCg>aTg	p.T950M	LIMCH1_ENST00000503057.1_Missense_Mutation_p.T1334M|LIMCH1_ENST00000511496.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000512820.1_Missense_Mutation_p.T962M|LIMCH1_ENST00000381753.4_Missense_Mutation_p.T783M|LIMCH1_ENST00000508501.1_Missense_Mutation_p.T949M|LIMCH1_ENST00000513024.1_Missense_Mutation_p.T803M|LIMCH1_ENST00000514096.1_Missense_Mutation_p.T790M|LIMCH1_ENST00000512946.1_Missense_Mutation_p.T950M|LIMCH1_ENST00000396595.3_Missense_Mutation_p.T795M|LIMCH1_ENST00000512632.1_Missense_Mutation_p.T873M|LIMCH1_ENST00000509277.1_Missense_Mutation_p.T783M	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1	950					actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						TCAAATCCAACGCACAGTTCA	0.443													T	41687760	C	T	41687760	3	4	420	1	0	0	0	0	1	0	0	0	8857	536	19	1	2967	1	LIMCH1	4	41687760	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		41687760	149466516	4	41907											
SCARB2	950	broad.mit.edu	37	chr4	77100703	77100703	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaatagggagagatatcGggcctgaaaacatggataag	17	6	12	6	1	0	2	0	1	0	1	1	5	0	4	2	3	1	0	2	3	7	3	rs148029250	by1000genomes	TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:77100703G>T	ENST00000264896.2	-	4	928	c.579C>A	c.(577-579)ccC>ccA	p.P193P	SCARB2_ENST00000452464.2_Intron	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	193					cell adhesion|protein targeting to lysosome	integral to plasma membrane|lysosomal lumen|lysosomal membrane|membrane fraction	enzyme binding|receptor activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			GAGAGATATCGGGCCTGAAAA	0.443													T	77100703	G	T	77100703	2	4	420	1	0	0	0	0	0	0	0	1	13974	1103	39	4		4	SCARB2	4	77100703	Silent	SNP	G	TCGA-DU-A6S2-01A-21D-A32B-08	35412943	77100703	114053573	5	41908											
IBSP	3381	broad.mit.edu	37	chr4	88731862	88731862	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgggctatggagaggaCgccacgcctggcacagggta	10	5	15	11	2	0	1	0	0	0	1	0	3	0	2	2	5	0	3	2	5	2	2			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr4:88731862C>T	ENST00000226284.5	+	6	418	c.351C>T	c.(349-351)gaC>gaT	p.D117D		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	117	Asp/Glu-rich (acidic).				biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ATGGAGAGGACGCCACGCCTG	0.423													T	88731862	C	T	88731862	2	4	420	1	0	0	0	0	0	0	0	1	7533	535	19	1		1	IBSP	4	88731862	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	11631159	88731862	102422414	6	41909											
PTPRZ1	5803	broad.mit.edu	37	chr7	121671570	121671570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcactttccaaagcatgTtgcagatttacatgcaagta	15	11	7	8	0	0	1	0	0	0	1	1	1	1	1	1	0	5	6	1	0	5	5			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:121671570T>C	ENST00000393386.2	+	15	5534	c.5123T>C	c.(5122-5124)gTt>gCt	p.V1708A	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.V848A	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1708					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						CCAAAGCATGTTGCAGATTTA	0.279													C	121671570	T	C	121671570	3	2	420	1	0	0	0	0	1	0	0	0	12902	1725	60	3	5181	3	PTPRZ1	7	121671570	Missense_Mutation	SNP	T	TCGA-DU-A6S2-01A-21D-A32B-08		121671570	37467093	7	41910											
OR2A25	392138	broad.mit.edu	37	chr7	143771878	143771878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctcaaacttgcctgtgCggatacccacattaatgagg	10	12	9	10	1	1	1	1	1	1	0	2	2	1	2	2	2	4	1	2	2	3	4			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr7:143771878C>T	ENST00000408898.2	+	1	604	c.566C>T	c.(565-567)gCg>gTg	p.A189V		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	189					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A189E(1)|p.A189V(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CTTGCCTGTGCGGATACCCAC	0.433													T	143771878	C	T	143771878	3	4	420	1	0	0	0	0	1	0	0	0	11054	768	27	1	568	1	OR2A25	7	143771878	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	22100308	143771878	15366785	8	41911											
LHX2	9355	broad.mit.edu	37	chr9	126777629	126777629	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcacacttcaaccatgcCgacgtggcagcggcggccgc	7	4	12	18	6	1	0	1	0	0	0	1	1	1	0	4	3	3	2	4	3	1	1			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr9:126777629C>T	ENST00000373615.4	+	3	1291	c.552C>T	c.(550-552)gcC>gcT	p.A184A		NM_004789.3	NP_004780.3	P50458	LHX2_HUMAN	LIM homeobox 2	184						nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)	10						TCAACCATGCCGACGTGGCAG	0.692													T	126777629	C	T	126777629	2	4	420	1	0	0	0	0	0	0	0	1	8831	639	23	1		1	LHX2	9	126777629	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		126777629	14435802	9	41912											
LDB3	11155	broad.mit.edu	37	chr10	88439245	88439245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagaacaagatcaagtctgCcagctacaacttgagcctca	14	7	7	13	0	3	3	2	1	1	2	3	3	3	3	3	0	6	1	3	0	5	2			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr10:88439245C>T	ENST00000429277.2	+	3	360	c.215C>T	c.(214-216)gCc>gTc	p.A72V	LDB3_ENST00000361373.4_Missense_Mutation_p.A72V|LDB3_ENST00000458213.2_Missense_Mutation_p.A72V|LDB3_ENST00000542786.1_Missense_Mutation_p.A72V|LDB3_ENST00000263066.6_Missense_Mutation_p.A72V|LDB3_ENST00000352360.5_Missense_Mutation_p.A72V|LDB3_ENST00000372066.3_Missense_Mutation_p.A72V|LDB3_ENST00000310944.6_Missense_Mutation_p.A72V|LDB3_ENST00000372056.4_Missense_Mutation_p.A72V	NM_001171610.1	NP_001165081.1	O75112	LDB3_HUMAN	LIM domain binding 3	72	PDZ.					cytoskeleton|perinuclear region of cytoplasm|pseudopodium	zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|soft_tissue(1)	25						ATCAAGTCTGCCAGCTACAAC	0.617													T	88439245	C	T	88439245	3	4	420	1	0	0	0	0	1	0	0	0	8756	739	26	2	221	2	LDB3	10	88439245	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		88439245	47095502	10	41913											
ANKLE2	23141	broad.mit.edu	37	chr12	133324458	133324458	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtacaggtccaccacgtaaCggatacgcttctgcagcatg	10	8	11	12	3	1	0	0	0	1	0	2	1	2	1	2	3	5	5	2	3	3	4			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr12:133324458C>T	ENST00000539605.1	-	4	7688	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H	ANKLE2_ENST00000337516.5_Missense_Mutation_p.R397H|ANKLE2_ENST00000357997.5_Missense_Mutation_p.R397H			Q86XL3	ANKL2_HUMAN	ankyrin repeat and LEM domain containing 2	397						cytoplasm|integral to membrane|nuclear envelope				NS(2)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(20)|ovary(1)|urinary_tract(2)	45	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.3e-08)|Epithelial(86;1.56e-07)|all cancers(50;4.94e-06)		CACCACGTAACGGATACGCTT	0.527													T	133324458	C	T	133324458	3	4	420	1	0	0	0	0	1	0	0	0	633	536	19	1	1662	1	ANKLE2	12	133324458	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		133324458	527437	11	41914											
RPS6KA5	9252	broad.mit.edu	37	chr14	91338462	91338462	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagggtctccgggttatTgctgtcggcaggattgctgg	6	11	17	7	2	1	1	0	0	1	1	3	3	1	2	1	5	2	4	1	5	2	3			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr14:91338462T>C	ENST00000261991.3	-	17	2538	c.2365A>G	c.(2365-2367)Aat>Gat	p.N789D	RPS6KA5_ENST00000536315.2_Missense_Mutation_p.N710D	NM_004755.2	NP_004746.2	O75582	KS6A5_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 5	789					axon guidance|epidermal growth factor receptor signaling pathway|histone phosphorylation|innate immune response|interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0148)|Melanoma(154;0.099)|all_epithelial(191;0.146)		Epithelial(152;0.182)|BRCA - Breast invasive adenocarcinoma(234;0.201)		TCCGGGTTATTGCTGTCGGCA	0.512													C	91338462	T	C	91338462	3	2	420	1	0	0	0	0	1	0	0	0	13745	1812	63	3	47	3	RPS6KA5	14	91338462	Missense_Mutation	SNP	T	TCGA-DU-A6S2-01A-21D-A32B-08		91338462	16011078	12	41915											
TMEM95	339168	broad.mit.edu	37	chr17	7258606	7258606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctcccagcccacgacttgtCaggccgcctggctcggctct	4	8	10	19	3	2	0	1	0	1	0	4	1	3	0	5	3	1	2	5	3	0	1	rs150578277		TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr17:7258606C>T	ENST00000389982.4	+	1	165	c.83C>T	c.(82-84)tCa>tTa	p.S28L	TMEM95_ENST00000330767.4_Missense_Mutation_p.S28L|TMEM95_ENST00000576060.1_Missense_Mutation_p.S28L			Q3KNT9	TMM95_HUMAN	transmembrane protein 95	28						integral to membrane				large_intestine(1)|lung(2)	3		Prostate(122;0.173)				CACGACTTGTCAGGCCGCCTG	0.637													T	7258606	C	T	7258606	3	4	420	1	0	0	0	0	1	0	0	0	16323	838	29	2	85	2	TMEM95	17	7258606	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08		7258606	73936604	13	41916											
ABCA9	10350	broad.mit.edu	37	chr17	67023790	67023790	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcacatacctctttctcCacttcatgtggcaaaatccc	9	13	4	15	0	4	0	2	0	2	0	6	0	5	0	3	1	2	2	3	1	3	3			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr17:67023790C>T	ENST00000340001.4	-	13	1993	c.1782G>A	c.(1780-1782)gtG>gtA	p.V594V	ABCA9_ENST00000370732.2_Silent_p.V594V|ABCA9_ENST00000453985.2_Silent_p.V594V	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	594	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					CCTCTTTCTCCACTTCATGTG	0.353													T	67023790	C	T	67023790	2	4	420	1	0	0	0	0	0	0	0	1	39	581	21	2		2	ABCA9	17	67023790	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	59765184	67023790	14171420	14	41917											
THEG	51298	broad.mit.edu	37	chr19	375793	375793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggggaagctcctcttctgGgtcttctggtcccagctctg	3	12	14	12	0	5	0	0	0	5	0	7	1	7	1	2	5	2	2	2	5	1	2			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:375793G>A	ENST00000342640.4	-	1	220	c.178C>T	c.(178-180)Cca>Tca	p.P60S	THEG_ENST00000346878.2_Missense_Mutation_p.P60S	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	60					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		TCCTCTTCTGGGTCTTCTGGT	0.642													A	375793	G	A	375793	3	1	420	1	0	0	0	0	1	0	0	0	15957	1232	43	2	993	2	THEG	19	375793	Missense_Mutation	SNP	G	TCGA-DU-A6S2-01A-21D-A32B-08		375793	58753190	15	41918											
MAST3	23031	broad.mit.edu	37	chr19	18234405	18234405	+	Frame_Shift_Del	DEL	G	G	-																															ttcagcccgggccgtgcaacGgggaccttcgacaatgagat																										TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:18234405delG	ENST00000262811.6	+	7	486	c.486delG	c.(484-486)acgfs	p.T162fs	MAST3_ENST00000608648.1_3'UTR	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCGTGCAACGGGGACCTTCG	0.607													-	18234405	G	-	18234405	7	5	420	1	0	1	0	1	0	0	0	0	9401	1103	39	0	512	0	MAST3	19	18234405	Frame_Shift_Del	DEL	G	TCGA-DU-A6S2-01A-21D-A32B-08	17858612	18234405	40894578	16	41919											
CIC	23152	broad.mit.edu	37	chr19	42791721	42791721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaaggaccacatccggcggCccatgaatgccttcatgatc	11	7	10	13	2	1	3	1	2	0	1	3	4	2	4	4	3	1	0	4	3	2	1			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:42791721C>T	ENST00000572681.2	+	6	3402	c.3334C>T	c.(3334-3336)Ccc>Tcc	p.P1112S	CIC_ENST00000575354.2_Missense_Mutation_p.P203S|CIC_ENST00000160740.3_Missense_Mutation_p.P203S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CATCCGGCGGCCCATGAATGC	0.627			"Mis, F, S"		oligodendroglioma								T	42791721	C	T	42791721	3	4	420	1	0	0	0	0	1	0	0	0	3454	739	26	2	625	2	CIC	19	42791721	Missense_Mutation	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	24557316	42791721	16337262	17	41920											
ZBTB45	84878	broad.mit.edu	37	chr19	59028510	59028510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctggcagctgcaaacgCgcgggctggcgctgcttacg	5	6	17	13	6	0	0	0	0	0	0	0	0	0	0	0	4	5	7	0	4	2	1			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chr19:59028510C>T	ENST00000594051.1	-	2	1011	c.531G>A	c.(529-531)gcG>gcA	p.A177A	ZBTB45_ENST00000600990.1_Silent_p.A177A|ZBTB45_ENST00000354590.3_Silent_p.A177A			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	177	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		GCTGCAAACGCGCGGGCTGGC	0.711											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	59028510	C	T	59028510	2	4	420	1	0	0	0	0	0	0	0	1	17647	755	27	1		1	ZBTB45	19	59028510	Silent	SNP	C	TCGA-DU-A6S2-01A-21D-A32B-08	16236789	59028510	100473	18	41921											
PTCHD1	139411	broad.mit.edu	37	chrX	23411556	23411556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaatacaatgatgaggtcGatgtagtggcctccagaatg	15	9	11	6	1	0	3	0	2	0	1	2	4	1	3	2	2	1	1	2	2	6	2			TCGA-DU-A6S2-01A-21D-A32B-08	TCGA-DU-A6S2-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d5d3cef6-c768-44ae-934f-fd728808a0e0	7ef54b90-9886-4974-9edf-81deb8bc2af2	g.chrX:23411556G>A	ENST00000379361.4	+	3	2781	c.1921G>A	c.(1921-1923)Gat>Aat	p.D641N		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	641					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TGATGAGGTCGATGTAGTGGC	0.403													A	23411556	G	A	23411556	3	1	420	1	0	0	0	0	1	0	0	0	12817	1058	37	1	1931	1	PTCHD1	23	23411556	Missense_Mutation	SNP	G	TCGA-DU-A6S2-01A-21D-A32B-08		23411556	131859004	19	41922											
FUBP1	8880	broad.mit.edu	37	chr1	78428460	78428464	+	Frame_Shift_Del	DEL	TCTTT	TCTTT	-																															ttaaagtatactcacaccaaTcttttcttctatgagttgcc																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:78428460_78428464delTCTTT	ENST00000370767.1	-	14	1422_1426	c.1335_1339delAAAGA	c.(1333-1341)gaaaagattfs	p.EKI445fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.EKI445fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.EKI466fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	445					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTCACACCAATCTTTTCTTCTATGA	0.332			"F, N"		oligodendroglioma								-	78428464	TCTTT	-	78428460	7	5	421	1	0	1	0	1	0	0	0	0	6144	1435	50	0	623	0	FUBP1	1	78428460	Frame_Shift_Del	DEL	TCTTT	TCGA-DU-A6S3-01A-12D-A32B-08		78428460	170822161	1	41923											
KIFAP3	22920	broad.mit.edu	37	chr1	170003625	170003625	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgagtaataagtccatgAaattgagaaaagctttaaag	18	11	9	3	0	0	3	0	3	0	1	1	4	1	3	1	0	1	2	1	0	8	6			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:170003625A>C	ENST00000367765.1	-	7	2011	c.510T>G	c.(508-510)ttT>ttG	p.F170L	KIFAP3_ENST00000538366.1_Missense_Mutation_p.F132L|KIFAP3_ENST00000361580.2_Missense_Mutation_p.F210L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.F166L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	210					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					TAAGTCCATGAAATTGAGAAA	0.299													C	170003625	A	C	170003625	3	2	421	1	0	0	0	0	1	0	0	0	8369	243	9	5	1804	5	KIFAP3	1	170003625	Missense_Mutation	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08	91575165	170003625	79246996	2	41924											
HMCN1	83872	broad.mit.edu	37	chr1	185987381	185987381	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttattaaatggacgcaaActggttattgctcaggctca	12	14	8	7	1	2	0	2	0	0	0	2	1	2	1	0	3	2	4	0	3	5	5			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:185987381A>G	ENST00000271588.4	+	34	5596	c.5367A>G	c.(5365-5367)aaA>aaG	p.K1789K	HMCN1_ENST00000367492.2_Silent_p.K1789K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1789	Ig-like C2-type 15.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATGGACGCAAACTGGTTATTG	0.418													G	185987381	A	G	185987381	2	3	421	1	0	0	0	0	0	0	0	1	7275	40	2	3		3	HMCN1	1	185987381	Silent	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08	15983756	185987381	63263240	3	41925											
OBSCN	84033	broad.mit.edu	37	chr1	228529181	228529181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggagggggatgaccGcgccttcgaggtgtggcagg	6	6	20	9	3	0	1	0	1	0	0	1	4	0	3	3	7	0	1	3	7	0	1			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr1:228529181G>A	ENST00000570156.2	+	85	20845	c.20771G>A	c.(20770-20772)cGc>cAc	p.R6924H	OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGATGACCGCGCCTTCGAG	0.632													A	228529181	G	A	228529181	3	1	421	1	0	0	0	0	1	0	0	0	10888	1087	38	1	18190	1	OBSCN	1	228529181	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	42541800	228529181	20721440	4	41926											
DTNB	1838	broad.mit.edu	37	chr2	25655840	25655840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctgctcgtgttccaggcGgagacgctgaatctcctgca	6	9	13	13	3	1	2	0	1	1	1	4	3	2	2	3	3	2	4	3	3	1	1			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:25655840G>A	ENST00000406818.3	-	14	1621	c.1372C>T	c.(1372-1374)Cgc>Tgc	p.R458C	DTNB_ENST00000404103.3_Missense_Mutation_p.R458C|DTNB_ENST00000407661.3_Missense_Mutation_p.R458C|DTNB_ENST00000288642.8_Missense_Mutation_p.R458C|DTNB_ENST00000405222.1_Missense_Mutation_p.R428C|DTNB_ENST00000545439.1_Missense_Mutation_p.R254C|DTNB_ENST00000407186.1_Missense_Mutation_p.R428C|DTNB_ENST00000407038.3_Missense_Mutation_p.R428C|DTNB_ENST00000496972.2_Missense_Mutation_p.R401C	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	458						cytoplasm	calcium ion binding|zinc ion binding	p.R458C(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTTCCAGGCGGAGACGCTGA	0.597													A	25655840	G	A	25655840	3	1	421	1	0	0	0	0	1	0	0	0	4828	1116	39	1	539	1	DTNB	2	25655840	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		25655840	217543533	5	41927											
EFEMP1	2202	broad.mit.edu	37	chr2	56108807	56108807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgacatgcaaaggatccccGtaaattgatgcacacttggt	12	10	9	10	1	0	2	0	2	0	0	1	3	1	3	2	2	2	3	2	2	3	3			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:56108807G>A	ENST00000394555.2	-	5	1015	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W	EFEMP1_ENST00000394554.1_Missense_Mutation_p.R194W|EFEMP1_ENST00000424836.2_Missense_Mutation_p.R136W|EFEMP1_ENST00000355426.3_Missense_Mutation_p.R194W	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	194	EGF-like 2; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			AAGGATCCCCGTAAATTGATG	0.512													A	56108807	G	A	56108807	3	1	421	1	0	0	0	0	1	0	0	0	4980	1144	40	1	929	1	EFEMP1	2	56108807	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	30452967	56108807	187090566	6	41928											
SCN2A	6326	broad.mit.edu	37	chr2	166165901	166165901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctgggcaatgtctcagcGttgagaacattcagagttct	10	11	11	9	1	3	2	2	1	2	2	4	4	3	2	1	1	2	3	1	1	2	3			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:166165901G>A	ENST00000375437.2	+	6	935	c.645G>A	c.(643-645)gcG>gcA	p.A215A	SCN2A_ENST00000283256.6_Silent_p.A215A|SCN2A_ENST00000357398.3_Intron|SCN2A_ENST00000375427.2_Intron	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	215					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A215A(2)		NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATGTCTCAGCGTTGAGAACAT	0.438													A	166165901	G	A	166165901	2	1	421	1	0	0	0	0	0	0	0	1	14009	1132	40	1		1	SCN2A	2	166165901	Silent	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	110057094	166165901	77033472	7	41929											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	421	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	42947211	209113112	34086261	8	41930											
SLC6A20	54716	broad.mit.edu	37	chr3	45804412	45804412	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcctcctcacctcctcaGcccgtacacgtagcacacgg	7	7	9	18	3	2	0	2	0	0	0	4	0	4	0	5	2	3	3	5	2	2	2			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:45804412G>A	ENST00000358525.4	-	9	1571	c.1456C>T	c.(1456-1458)Ctg>Ttg	p.L486L	SLC6A20_ENST00000456124.2_Silent_p.L486L|SLC6A20_ENST00000353278.4_Silent_p.L449L|SLC6A20_ENST00000493980.1_5'UTR	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	486					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		CACCTCCTCAGCCCGTACACG	0.552													A	45804412	G	A	45804412	2	1	421	1	0	0	0	0	0	0	0	1	14778	962	34	2		2	SLC6A20	3	45804412	Silent	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		45804412	152218018	9	41931											
LRIG1	26018	broad.mit.edu	37	chr3	66433766	66433766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtggctttgcattggagggCcactgtttctcccacagata	7	12	11	11	1	1	1	0	0	1	1	2	2	1	2	2	3	1	3	2	3	1	4			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:66433766C>T	ENST00000383703.3	-	16	2665	c.2062G>A	c.(2062-2064)Gcc>Acc	p.A688T	LRIG1_ENST00000273261.3_Missense_Mutation_p.A711T|LRIG1_ENST00000496559.2_5'UTR|SLC25A26_ENST00000536651.1_Intron			Q96JA1	LRIG1_HUMAN	leucine-rich repeats and immunoglobulin-like domains 1	711	Ig-like C2-type 2.					integral to membrane				NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(4)|stomach(4)|urinary_tract(1)	42		Lung NSC(201;0.0101)		BRCA - Breast invasive adenocarcinoma(55;0.00047)		CATTGGAGGGCCACTGTTTCT	0.597													T	66433766	C	T	66433766	3	4	421	1	0	0	0	0	1	0	0	0	9014	739	26	2	1170	2	LRIG1	3	66433766	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	20629354	66433766	131588664	10	41932											
VEPH1	79674	broad.mit.edu	37	chr3	157081226	157081227	+	Frame_Shift_Ins	INS	-	-	T																															atgctttcactttgctgaggINStttttttttaagtgcaagta																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:157081226_157081227insT	ENST00000362010.2	-	9	1968_1969	c.1661_1662insA	c.(1660-1662)aacfs	p.N554fs	VEPH1_ENST00000392832.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000392833.2_Frame_Shift_Ins_p.N554fs|VEPH1_ENST00000543418.1_Frame_Shift_Ins_p.N554fs|RP11-550I24.2_ENST00000487238.1_RNA	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	554						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			CTTTGCTGAGGTTTTTTTTTAA	0.396													T	157081227	-	T	157081226	7	5	421	1	0	1	1	0	0	0	0	0	17256	1252	44	0	863	0	VEPH1	3	157081226	Frame_Shift_Ins	INS	-	TCGA-DU-A6S3-01A-12D-A32B-08	90647460	157081226	40941204	11	41933											
PIK3CA	5290	broad.mit.edu	37	chr3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-																															tggccagtacctcatggattAgaagatttgctgaaccctat																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178928080	AGA	-	178928078	7	5	421	1	0	1	0	1	0	0	0	0	11990	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-DU-A6S3-01A-12D-A32B-08	21846852	178928078	19094352	12	41934											
PPEF2	5470	broad.mit.edu	37	chr4	76809380	76809382	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcttaccacacactgtgatCtcctcactgtaacaggttga																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:76809380_76809382delCTC	ENST00000286719.7	-	6	873_875	c.517_519delGAG	c.(517-519)gagdel	p.E173del		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	173	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			ACACTGTGATCTCCTCACTGTAA	0.507													-	76809382	CTC	-	76809380	7	5	421	1	0	1	0	1	0	0	0	0	12385	912	32	0	1790	0	PPEF2	4	76809380	In_Frame_Del	DEL	CTC	TCGA-DU-A6S3-01A-12D-A32B-08		76809380	114344896	13	41935											
MAML3	55534	broad.mit.edu	37	chr4	140811117	140811117	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgttgctgttgctgttt	0	18	13	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3	rs62344938		TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr4:140811117C>T	ENST00000509479.2	-	2	2329	c.1473G>A	c.(1471-1473)caG>caA	p.Q491Q	MAML3_ENST00000327122.5_Silent_p.Q335Q|MAML3_ENST00000398940.1_Silent_p.Q30Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	491	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)					gctgctgctgctgctgttgct	0.547													T	140811117	C	T	140811117	2	4	421	1	0	0	0	0	0	0	0	1	9282	796	28	2		2	MAML3	4	140811117	Silent	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	64001737	140811117	50343159	14	41936											
POU5F2	134187	broad.mit.edu	37	chr5	93076551	93076551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccagcaatgtggctgAtttgctggggtgtgggctta	6	11	16	8	0	0	1	0	1	0	0	0	1	0	1	1	5	2	5	1	5	2	2			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr5:93076551A>G	ENST00000510627.4	-	1	792	c.719T>C	c.(718-720)aTc>aCc	p.I240T	FAM172A_ENST00000509163.1_Intron|FAM172A_ENST00000505869.1_Intron|POU5F2_ENST00000606183.1_5'UTR|FAM172A_ENST00000395965.3_Intron|FAM172A_ENST00000509739.1_Intron	NM_153216.1	NP_694948.1	Q8N7G0	PO5F2_HUMAN	POU domain class 5, transcription factor 2	240						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity						all_cancers(142;3.87e-05)|all_epithelial(76;4.59e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0415)|all cancers(79;2.03e-19)		AATGTGGCTGATTTGCTGGGG	0.552													G	93076551	A	G	93076551	3	3	421	1	0	0	0	0	1	0	0	0	12360	333	12	3	271	3	POU5F2	5	93076551	Missense_Mutation	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08		93076551	87838709	15	41937											
TRIM27	5987	broad.mit.edu	37	chr6	28872363	28872363	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaggcaggtcctgttggagGtaactgtaccgcacttgccg	7	10	13	11	2	1	0	1	0	0	0	2	1	2	1	3	4	3	5	3	4	2	4			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:28872363G>T	ENST00000377199.3	-	8	1382	c.1026C>A	c.(1024-1026)taC>taA	p.Y342*	TRIM27_ENST00000377194.3_Nonsense_Mutation_p.Y342*	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	342	B30.2/SPRY.				cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CCTGTTGGAGGTAACTGTACC	0.552			T	RET	papillary thyroid								T	28872363	G	T	28872363	4	4	421	1	0	0	0	0	0	1	0	0	16602	1256	44	4	519	4	TRIM27	6	28872363	Nonsense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		28872363	142242704	16	41938											
KIAA1244	57221	broad.mit.edu	37	chr6	138584709	138584709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctccaatgtagaggaggtgGacaccgctctgcagaacttt	10	10	11	10	1	2	2	0	0	2	2	3	4	2	4	2	3	2	3	2	3	3	2			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr6:138584709G>A	ENST00000251691.4	+	12	2255	c.2089G>A	c.(2089-2091)Gac>Aac	p.D697N		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	697	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		AGAGGAGGTGGACACCGCTCT	0.507													A	138584709	G	A	138584709	3	1	421	1	0	0	0	0	1	0	0	0	8275	1174	41	2	2135	2	KIAA1244	6	138584709	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	109712346	138584709	32530358	17	41939											
MPDZ	8777	broad.mit.edu	37	chr9	13216804	13216804	+	Frame_Shift_Del	DEL	C	C	-																															ggtctccaatttggattcttCcatcatgctcaacggcactg																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:13216804delC	ENST00000319217.7	-	10	1506	c.1259delG	c.(1258-1260)ggafs	p.G420fs	MPDZ_ENST00000447879.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000536827.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000546205.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381022.2_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000541718.1_Frame_Shift_Del_p.G420fs|MPDZ_ENST00000381015.4_Frame_Shift_Del_p.G420fs	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	420	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTGGATTCTTCCATCATGCTC	0.313													-	13216804	C	-	13216804	7	5	421	1	0	1	0	1	0	0	0	0	9798	855	30	0	5014	0	MPDZ	9	13216804	Frame_Shift_Del	DEL	C	TCGA-DU-A6S3-01A-12D-A32B-08		13216804	127996627	18	41940											
DNAI1	27019	broad.mit.edu	37	chr9	34514457	34514458	+	Frame_Shift_Del	DEL	TG	TG	-																															cacaacatgtcagtggacacTgtgtcctggaacccatacca																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:34514457_34514458delTG	ENST00000242317.4	+	17	1806_1807	c.1635_1636delTG	c.(1633-1638)actgtgfs	p.V546fs		NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	546					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		CAGTGGACACTGTGTCCTGGAA	0.559									Kartagener syndrome				-	34514458	TG	-	34514457	7	5	421	1	0	1	0	1	0	0	0	0	4648	1567	55	0	1701	0	DNAI1	9	34514457	Frame_Shift_Del	DEL	TG	TCGA-DU-A6S3-01A-12D-A32B-08	21297653	34514457	106698974	19	41941											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	421	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-DU-A6S3-01A-12D-A32B-08	104898613	139413070	1800361	20	41942											
MAP3K8	1326	broad.mit.edu	37	chr10	30739244	30739244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaggcttgcttccggcacGagaacatcgcagagctgtat	9	9	11	12	3	0	2	0	0	0	2	3	3	2	2	2	2	3	6	2	2	2	3			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr10:30739244G>A	ENST00000263056.1	+	5	1258	c.562G>A	c.(562-564)Gag>Aag	p.E188K	MAP3K8_ENST00000542547.1_Missense_Mutation_p.E188K|MAP3K8_ENST00000375321.1_Missense_Mutation_p.E188K	NM_001244134.1|NM_005204.3	NP_001231063.1|NP_005195.2	P41279	M3K8_HUMAN	mitogen-activated protein kinase kinase kinase 8	188	Protein kinase.				cell cycle|T cell costimulation	cytosol	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Prostate(175;0.151)				CTTCCGGCACGAGAACATCGC	0.483													A	30739244	G	A	30739244	3	1	421	1	0	0	0	0	1	0	0	0	9331	1059	37	1	572	1	MAP3K8	10	30739244	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08		30739244	104795503	21	41943											
OR4D9	390199	broad.mit.edu	37	chr11	59282749	59282749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtgatggcgtttgacCgctatatagccatctccaag	8	13	9	11	2	2	2	0	2	2	0	4	2	2	2	3	1	1	2	3	1	4	4			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:59282749C>T	ENST00000329328.3	+	1	364	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122C(1)		endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						GGCGTTTGACCGCTATATAGC	0.527													T	59282749	C	T	59282749	3	4	421	1	0	0	0	0	1	0	0	0	11135	652	23	1	366	1	OR4D9	11	59282749	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		59282749	75723767	22	41944											
CABP2	51475	broad.mit.edu	37	chr11	67287397	67287397	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccacgctgatgcggccgtcCccattggtgtcgaactgtgg	5	9	13	14	4	0	1	0	1	0	0	2	2	1	1	4	3	2	1	4	3	1	1			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:67287397C>T	ENST00000294288.4	-	6	573	c.504G>A	c.(502-504)ggG>ggA	p.G168G	CABP2_ENST00000353903.5_Silent_p.G111G	NM_016366.2	NP_057450.2	Q9NPB3	CABP2_HUMAN	calcium binding protein 2	168	EF-hand 3.				signal transduction	Golgi apparatus|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			endometrium(2)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	9						TGCGGCCGTCCCCATTGGTGT	0.687													T	67287397	C	T	67287397	2	4	421	1	0	0	0	0	0	0	0	1	2558	610	22	2		2	CABP2	11	67287397	Silent	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	8004648	67287397	67719119	23	41945											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	421	1	0	1	0	1	0	0	0	0	3894	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-DU-A6S3-01A-12D-A32B-08	18087845	85375242	49631274	24	41946											
USP5	8078	broad.mit.edu	37	chr12	6970648	6970650	+	In_Frame_Del	DEL	GAG	GAG	-																															agaagaagcggcaagccgaaGaggagaagatggcactgcca																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:6970648_6970650delGAG	ENST00000229268.8	+	13	1592_1594	c.1540_1542delGAG	c.(1540-1542)gagdel	p.E515del	USP5_ENST00000541969.1_3'UTR|USP5_ENST00000389231.5_In_Frame_Del_p.E515del	NM_001098536.1	NP_001092006.1	P45974	UBP5_HUMAN	ubiquitin specific peptidase 5 (isopeptidase T)	515					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process	lysosome	cysteine-type endopeptidase activity|omega peptidase activity|protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(6)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|skin(2)|urinary_tract(2)	36						GCAAGCCGAAGAGGAGAAGATGG	0.596													-	6970650	GAG	-	6970648	7	5	421	1	0	1	0	1	0	0	0	0	17183	943	33	0	1590	0	USP5	12	6970648	In_Frame_Del	DEL	GAG	TCGA-DU-A6S3-01A-12D-A32B-08		6970648	126881247	25	41947											
PHC1	1911	broad.mit.edu	37	chr12	9083061	9083061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcagtaaggaatcaacagGcctcagctcaaggacctcag	13	6	11	11	0	4	0	4	0	0	0	4	2	4	2	2	4	2	3	2	4	4	1			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:9083061G>A	ENST00000433083.2	+	6	653	c.508G>A	c.(508-510)Gcc>Acc	p.A170T	PHC1_ENST00000544916.1_Missense_Mutation_p.A215T|PHC1_ENST00000543824.1_Missense_Mutation_p.A215T|PHC1_ENST00000433847.2_3'UTR|PHC1_ENST00000536844.1_5'UTR			P78364	PHC1_HUMAN	polyhomeotic homolog 1 (Drosophila)	215					multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|large_intestine(8)|liver(2)|lung(3)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	27						GAATCAACAGGCCTCAGCTCA	0.507													A	9083061	G	A	9083061	3	1	421	1	0	0	0	0	1	0	0	0	11893	1203	42	2	665	2	PHC1	12	9083061	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	2112413	9083061	124768834	26	41948											
DERA	51071	broad.mit.edu	37	chr12	16185574	16185574	+	Frame_Shift_Del	DEL	A	A	-																															ccattagagatttcttctggAaaactggaaacaaggtatat																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:16185574delA	ENST00000428559.2	+	7	948	c.736delA	c.(736-738)aaafs	p.K246fs	DERA_ENST00000526530.1_Frame_Shift_Del_p.K158fs|DERA_ENST00000532573.1_3'UTR|DERA_ENST00000532964.1_Frame_Shift_Del_p.K203fs	NM_015954.2	NP_057038.2	Q9Y315	DEOC_HUMAN	deoxyribose-phosphate aldolase (putative)	246					deoxyribonucleoside catabolic process|deoxyribonucleotide catabolic process	cytoplasm	deoxyribose-phosphate aldolase activity|protein binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)	7		Hepatocellular(102;0.121)				TTTCTTCTGGAAAACTGGAAA	0.348													-	16185574	A	-	16185574	7	5	421	1	0	1	0	1	0	0	0	0	4484	247	9	0	762	0	DERA	12	16185574	Frame_Shift_Del	DEL	A	TCGA-DU-A6S3-01A-12D-A32B-08	7102513	16185574	117666321	27	41949											
KCNH3	23416	broad.mit.edu	37	chr12	49935464	49935464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acccataaagaatgagaaagGggaggtggctctcttcctag	13	8	12	8	0	1	2	0	1	1	2	3	4	2	3	2	4	0	1	2	4	5	3			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:49935464G>A	ENST00000257981.6	+	3	622	c.362G>A	c.(361-363)gGg>gAg	p.G121E	KCNH3_ENST00000550434.1_3'UTR	NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	121	PAC.				regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						AATGAGAAAGGGGAGGTGGCT	0.542													A	49935464	G	A	49935464	3	1	421	1	0	0	0	0	1	0	0	0	8091	1232	43	2	372	2	KCNH3	12	49935464	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	33749890	49935464	83916431	28	41950											
NACA	4666	broad.mit.edu	37	chr12	57110851	57110853	+	In_Frame_Del	DEL	GAA	GAA	-																															ctggggcctttttgggagagGaagaagtggcaacttgtttg																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr12:57110851_57110853delGAA	ENST00000454682.1	-	3	4742_4744	c.4461_4463delTTC	c.(4459-4464)tcttcc>tcc	p.1487_1488SS>S	NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TTTGGGAGAGGAAGAAGTGGCAA	0.631			T	BCL6	NHL								-	57110853	GAA	-	57110851	7	5	421	1	0	1	0	1	0	0	0	0	10209	1174	41	0	1801	0	NACA	12	57110851	In_Frame_Del	DEL	GAA	TCGA-DU-A6S3-01A-12D-A32B-08	7175387	57110851	76741044	29	41951											
LCP1	3936	broad.mit.edu	37	chr13	46721233	46721235	+	In_Frame_Del	DEL	CTT	CTT	-																															tctgccctctggatgtcatcCttctcctgcaatgcaaaagg																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr13:46721233_46721235delCTT	ENST00000398576.2	-	13	1370_1372	c.982_984delAAG	c.(982-984)aagdel	p.K328del	LCP1_ENST00000323076.2_In_Frame_Del_p.K328del			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	328	Actin-binding 1.|CH 2.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GGATGTCATCCTTCTCCTGCAAT	0.522			T	BCL6	NHL								-	46721235	CTT	-	46721233	7	5	421	1	0	1	0	1	0	0	0	0	8750	680	24	0	927	0	LCP1	13	46721233	In_Frame_Del	DEL	CTT	TCGA-DU-A6S3-01A-12D-A32B-08		46721233	68448645	30	41952											
BDKRB2	624	broad.mit.edu	37	chr14	96707058	96707058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggggagacgctctgccgCgtggtgaatgccattatctc	6	12	13	10	3	2	2	0	1	2	1	3	3	2	2	2	3	2	1	2	3	2	2			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr14:96707058C>T	ENST00000542454.2	+	3	3400	c.312C>T	c.(310-312)cgC>cgT	p.R104R	RP11-404P21.8_ENST00000553811.1_Intron|BDKRB2_ENST00000539359.1_Silent_p.R104R|BDKRB2_ENST00000554311.1_Silent_p.R131R|BDKRB2_ENST00000306005.3_Silent_p.R131R			P30411	BKRB2_HUMAN	bradykinin receptor B2	131					arachidonic acid secretion|elevation of cytosolic calcium ion concentration|transmembrane receptor protein tyrosine kinase signaling pathway	endosome|integral to plasma membrane	bradykinin receptor activity|phosphatidylinositol phospholipase C activity|protease binding|protein heterodimerization activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|lung(7)|ovary(3)|skin(1)	24		all_cancers(154;0.0678)|Melanoma(154;0.155)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.226)		CGCTCTGCCGCGTGGTGAATG	0.582													T	96707058	C	T	96707058	2	4	421	1	0	0	0	0	0	0	0	1	1398	755	27	1		1	BDKRB2	14	96707058	Silent	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		96707058	10642482	31	41953											
WDR76	79968	broad.mit.edu	37	chr15	44150878	44150878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccattacagggatactcaTatttatgatgcaaggcgatt	12	13	8	8	1	1	1	1	1	0	0	2	3	2	2	1	2	3	1	1	2	5	6			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:44150878T>G	ENST00000263795.6	+	11	1489	c.1419T>G	c.(1417-1419)caT>caG	p.H473Q	WDR76_ENST00000478130.1_3'UTR|WDR76_ENST00000381246.2_Missense_Mutation_p.H409Q	NM_001167941.1|NM_024908.3	NP_001161413.1|NP_079184.2	Q9H967	WDR76_HUMAN	WD repeat domain 76	473										breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)	20		all_cancers(109;3.26e-11)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.61e-06)|all_lung(180;1.5e-05)|Melanoma(134;0.0417)		all cancers(107;3.78e-21)|GBM - Glioblastoma multiforme(94;5.04e-07)		GGGATACTCATATTTATGATG	0.383													G	44150878	T	G	44150878	3	3	421	1	0	0	0	0	1	0	0	0	17428	1403	49	5	1461	5	WDR76	15	44150878	Missense_Mutation	SNP	T	TCGA-DU-A6S3-01A-12D-A32B-08		44150878	58380514	32	41954											
SEMA6D	80031	broad.mit.edu	37	chr15	48063212	48063212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctagtccgccacctcattccCcattaagtcatgggcatatc	9	11	6	15	1	2	0	2	0	0	0	5	0	4	0	5	1	0	1	5	1	3	4			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr15:48063212C>T	ENST00000316364.5	+	19	2891	c.2452C>T	c.(2452-2454)Cca>Tca	p.P818S	SEMA6D_ENST00000536845.2_Missense_Mutation_p.P818S|SEMA6D_ENST00000389432.2_Missense_Mutation_p.P775S|SEMA6D_ENST00000358066.4_Missense_Mutation_p.P756S|SEMA6D_ENST00000558816.1_3'UTR|SEMA6D_ENST00000354744.4_Missense_Mutation_p.P762S|SEMA6D_ENST00000537942.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000558014.1_Missense_Mutation_p.P756S|SEMA6D_ENST00000355997.3_3'UTR|SEMA6D_ENST00000389428.3_Missense_Mutation_p.P743S|SEMA6D_ENST00000389433.2_Missense_Mutation_p.P799S	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	818					axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity	p.P756S(1)|p.P818S(1)		biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		ACCTCATTCCCCATTAAGTCA	0.488													T	48063212	C	T	48063212	3	4	421	1	0	0	0	0	1	0	0	0	14135	623	22	2	2565	2	SEMA6D	15	48063212	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08	3912334	48063212	54468180	33	41955											
MYH11	4629	broad.mit.edu	37	chr16	15839063	15839063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaatcaccttcatggCggtcagctgctgctgcctct	5	12	9	15	1	5	1	3	1	2	0	5	1	5	1	3	2	4	3	3	2	1	1			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:15839063C>T	ENST00000452625.2	-	21	2551	c.2464G>A	c.(2464-2466)Gcc>Acc	p.A822T	MYH11_ENST00000576790.2_Missense_Mutation_p.A815T|MYH11_ENST00000396324.3_Missense_Mutation_p.A822T|MYH11_ENST00000300036.5_Missense_Mutation_p.A815T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	815					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACCTTCATGGCGGTCAGCTGC	0.617			T	CBFB	AML								T	15839063	C	T	15839063	3	4	421	1	0	0	0	0	1	0	0	0	10107	768	27	1	3598	1	MYH11	16	15839063	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		15839063	74515690	34	41956											
CDH8	1006	broad.mit.edu	37	chr16	61851533	61851533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacgattttgactgtcGccgtgtctttaaagggcccc	8	11	9	13	3	1	1	0	1	1	0	2	2	1	1	4	1	1	0	4	1	3	4			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:61851533G>A	ENST00000577390.1	-	7	2081	c.1127C>T	c.(1126-1128)gCg>gTg	p.A376V	CDH8_ENST00000577730.1_Missense_Mutation_p.A376V|CDH8_ENST00000584337.1_Missense_Mutation_p.A376V|CDH8_ENST00000299345.6_Missense_Mutation_p.A376V	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	376	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TTTGACTGTCGCCGTGTCTTT	0.483													A	61851533	G	A	61851533	3	1	421	1	0	0	0	0	1	0	0	0	3146	1087	38	1	1296	1	CDH8	16	61851533	Missense_Mutation	SNP	G	TCGA-DU-A6S3-01A-12D-A32B-08	46012470	61851533	28503220	35	41957											
FHOD1	29109	broad.mit.edu	37	chr16	67265220	67265222	+	In_Frame_Del	DEL	CTT	CTT	-																															gtgtccttcacctctgacacCttctccaggtagctcagctc																										TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr16:67265220_67265222delCTT	ENST00000258201.4	-	17	2783_2785	c.2536_2538delAAG	c.(2536-2538)aagdel	p.K846del		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	846	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCTCTGACACCTTCTCCAGGTAG	0.586													-	67265222	CTT	-	67265220	7	5	421	1	0	1	0	1	0	0	0	0	5931	680	24	0	980	0	FHOD1	16	67265220	In_Frame_Del	DEL	CTT	TCGA-DU-A6S3-01A-12D-A32B-08	5413687	67265220	23089533	36	41958											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	421	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		42791757	16337226	37	41959											
TPRX1	284355	broad.mit.edu	37	chr19	48305251	48305251	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcaagaagtcggaggcAtcggggctctgaggccataa	10	7	15	9	2	2	2	0	1	2	1	4	3	2	3	1	6	0	3	1	6	3	1			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr19:48305251A>G	ENST00000535759.1	-	4	1307	c.1308T>C	c.(1306-1308)gaT>gaC	p.D436D	TPRX1_ENST00000543508.1_Silent_p.D329D|TPRX1_ENST00000322175.3_Silent_p.D339D			Q8N7U7	TPRX1_HUMAN	tetra-peptide repeat homeobox 1	339						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(5)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)|skin(1)	18		all_cancers(25;3.02e-09)|all_epithelial(76;7e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000241)|all cancers(93;0.00036)|Epithelial(262;0.0127)|GBM - Glioblastoma multiforme(486;0.048)		AGTCGGAGGCATCGGGGCTCT	0.622													G	48305251	A	G	48305251	2	3	421	1	0	0	0	0	0	0	0	1	16523	214	8	3		3	TPRX1	19	48305251	Silent	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08	5513494	48305251	10823732	38	41960											
BAGE2	85319	broad.mit.edu	37	chr21	11049595	11049595	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtctcccgggctgtcgcAcactgcacagtttgcatctt	6	11	11	13	2	2	0	0	0	2	0	4	1	2	0	1	2	2	5	1	2	0	2			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr21:11049595A>G	ENST00000470054.1	-	0	513									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGCTGTCGCACACTGCACAG	0.378													G	11049595	A	G	11049595	1	3	421	0	1	0	0	0	0	0	0	0	1297	157	6	3		3	BAGE2	21	11049595	RNA	SNP	A	TCGA-DU-A6S3-01A-12D-A32B-08		11049595	37080300	39	41961											
TOP3B	8940	broad.mit.edu	37	chr22	22324757	22324757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatgggccttgttcatgaCgggcagaacagcatcaagaa	13	7	11	10	1	2	3	2	1	0	2	2	3	2	3	2	2	2	3	2	2	3	2			TCGA-DU-A6S3-01A-12D-A32B-08	TCGA-DU-A6S3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f192a681-2d96-4f8c-8fd1-c4889fadf0c5	00b17af9-fd37-4d43-a8ec-1cdd5246ba25	g.chr22:22324757C>T	ENST00000398793.2	-	6	840	c.406G>A	c.(406-408)Gtc>Atc	p.V136I	TOP3B_ENST00000357179.5_Missense_Mutation_p.V136I|TOP3B_ENST00000413067.2_Intron	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta	136	Toprim.				DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		TTGTTCATGACGGGCAGAACA	0.607													T	22324757	C	T	22324757	3	4	421	1	0	0	0	0	1	0	0	0	16469	536	19	1	2234	1	TOP3B	22	22324757	Missense_Mutation	SNP	C	TCGA-DU-A6S3-01A-12D-A32B-08		22324757	28979809	40	41962											
VANGL2	57216	broad.mit.edu	37	chr1	160385688	160385688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggccactcccgcagctccCgcaagcacaggtgggcaggc	7	3	14	17	3	0	0	0	0	0	0	2	0	2	0	3	4	2	5	3	4	1	0			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr1:160385688C>T	ENST00000368061.2	+	2	535	c.61C>T	c.(61-63)Cgc>Tgc	p.R21C		NM_020335.2	NP_065068.1	Q9ULK5	VANG2_HUMAN	VANGL planar cell polarity protein 2	21					apical protein localization|heart looping|nonmotile primary cilium assembly	apical plasma membrane|integral to membrane				biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	37	all_cancers(52;1.08e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGCAGCTCCCGCAAGCACAG	0.657													T	160385688	C	T	160385688	3	4	422	1	0	0	0	0	1	0	0	0	17222	652	23	1	63	1	VANGL2	1	160385688	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		160385688	88864933	1	41963											
PTCD3	55037	broad.mit.edu	37	chr2	86348616	86348616	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccacaggaaccactgtgtctCttgaaacaacaaatagtctc	14	9	6	12	0	2	1	0	1	2	0	4	2	2	2	2	1	3	0	2	1	5	2			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:86348616C>G	ENST00000254630.7	+	8	619	c.553C>G	c.(553-555)Ctt>Gtt	p.L185V	PTCD3_ENST00000409277.3_Silent_p.L143L|PTCD3_ENST00000465560.1_3'UTR	NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	185						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						CACTGTGTCTCTTGAAACAAC	0.363													G	86348616	C	G	86348616	3	3	422	1	0	0	0	0	1	0	0	0	12814	913	32	4	583	4	PTCD3	2	86348616	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		86348616	156850757	2	41964											
ADAM23	8745	broad.mit.edu	37	chr2	207422173	207422173	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagaagcatcgctcttctcAtgcacataccaacaactttg	13	11	5	12	1	2	1	1	0	2	1	4	1	2	1	1	0	5	3	1	0	5	4			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:207422173A>T	ENST00000264377.3	+	10	1284	c.956A>T	c.(955-957)cAt>cTt	p.H319L	ADAM23_ENST00000374416.1_Missense_Mutation_p.H319L|ADAM23_ENST00000374415.3_Missense_Mutation_p.H319L	NM_003812.2	NP_003803.1	O75077	ADA23_HUMAN	ADAM metallopeptidase domain 23	319	Peptidase M12B.				cell adhesion|central nervous system development|proteolysis	extracellular region|integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			NS(2)|breast(1)|endometrium(6)|kidney(3)|large_intestine(5)|liver(2)|lung(22)|ovary(2)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	51				LUSC - Lung squamous cell carcinoma(261;0.0961)|Lung(261;0.182)|Epithelial(149;0.205)		CGCTCTTCTCATGCACATACC	0.378													T	207422173	A	T	207422173	3	4	422	1	0	0	0	0	1	0	0	0	245	217	8	5	994	5	ADAM23	2	207422173	Missense_Mutation	SNP	A	TCGA-DU-A6S6-01A-21D-A32B-08	121073557	207422173	35777200	3	41965											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	422	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08	1690939	209113112	34086261	4	41966											
TRIM71	131405	broad.mit.edu	37	chr3	32932914	32932914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctaaacaagtatggcttcGagggggctctctggaagcac	10	9	12	10	1	1	0	0	0	1	0	4	2	2	1	1	4	2	4	1	4	5	3			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr3:32932914G>A	ENST00000383763.5	+	4	2281	c.2218G>A	c.(2218-2220)Gag>Aag	p.E740K		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTATGGCTTCGAGGGGGCTCT	0.572													A	32932914	G	A	32932914	3	1	422	1	0	0	0	0	1	0	0	0	16645	1059	37	1	2232	1	TRIM71	3	32932914	Missense_Mutation	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08		32932914	165089516	5	41967											
SLC26A6	65010	broad.mit.edu	37	chr3	48668050	48668050	+	Frame_Shift_Del	DEL	C	C	-																															caaagcccacctgcgagttgCccccggtgctctcctgtacc																										TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr3:48668050delC	ENST00000358747.6	-	9	1425	c.1175delG	c.(1174-1176)ggcfs	p.G392fs	SLC26A6_ENST00000337000.8_Frame_Shift_Del_p.G306fs|SLC26A6_ENST00000395550.2_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000420764.2_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000383733.3_Frame_Shift_Del_p.G413fs|SLC26A6_ENST00000455886.2_Frame_Shift_Del_p.G377fs	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CTGCGAGTTGCCCCCGGTGCT	0.617													-	48668050	C	-	48668050	7	5	422	1	0	1	0	1	0	0	0	0	14615	739	26	0	1125	0	SLC26A6	3	48668050	Frame_Shift_Del	DEL	C	TCGA-DU-A6S6-01A-21D-A32B-08	15735136	48668050	149354380	6	41968											
SLC17A4	10050	broad.mit.edu	37	chr6	25771175	25771175	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcaatgctggggtccttcaTtgttctacttgctggtggtc	4	16	12	9	0	3	0	2	0	1	0	5	0	4	0	1	4	3	3	1	4	2	5			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:25771175T>A	ENST00000377905.4	+	6	760	c.641T>A	c.(640-642)aTt>aAt	p.I214N	SLC17A4_ENST00000439485.2_Intron|SLC17A4_ENST00000397076.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	214					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GGGTCCTTCATTGTTCTACTT	0.478													A	25771175	T	A	25771175	3	1	422	1	0	0	0	0	1	0	0	0	14513	1493	52	5	659	5	SLC17A4	6	25771175	Missense_Mutation	SNP	T	TCGA-DU-A6S6-01A-21D-A32B-08		25771175	145343892	7	41969											
MDGA1	266727	broad.mit.edu	37	chr6	37616799	37616800	+	Frame_Shift_Del	DEL	GA	GA	-																															cagccgagcccacatcgttgGagacgctgcactcgtagctg																										TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:37616799_37616800delGA	ENST00000297153.7	-	10	3039_3040	c.1861_1862delTC	c.(1861-1863)tccfs	p.S621fs	MDGA1_ENST00000505425.1_Frame_Shift_Del_p.S618fs|MDGA1_ENST00000434837.3_Frame_Shift_Del_p.S618fs			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	618	Ig-like 6.				brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CACATCGTTGGAGACGCTGCAC	0.718													-	37616800	GA	-	37616799	7	5	422	1	0	1	0	1	0	0	0	0	9481	1174	41	0	1050	0	MDGA1	6	37616799	Frame_Shift_Del	DEL	GA	TCGA-DU-A6S6-01A-21D-A32B-08	11845624	37616799	133498268	8	41970											
ARID1B	57492	broad.mit.edu	37	chr6	157525120	157525120	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcactgttgctactttcaAtctctcccaggtaagccagc	9	11	7	14	0	2	0	1	0	1	0	4	0	3	0	2	1	5	4	2	1	3	4	rs140177120	byFrequency	TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr6:157525120A>G	ENST00000346085.5	+	19	5016	c.5015A>G	c.(5014-5016)aAt>aGt	p.N1672S	ARID1B_ENST00000367148.1_Missense_Mutation_p.N1712S|ARID1B_ENST00000275248.4_Missense_Mutation_p.N1654S|ARID1B_ENST00000350026.5_Missense_Mutation_p.N1659S	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1659					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GCTACTTTCAATCTCTCCCAG	0.428													G	157525120	A	G	157525120	3	3	422	1	0	0	0	0	1	0	0	0	917	101	4	3	5089	3	ARID1B	6	157525120	Missense_Mutation	SNP	A	TCGA-DU-A6S6-01A-21D-A32B-08	119908321	157525120	13589947	9	41971											
EPHA1	2041	broad.mit.edu	37	chr7	143096028	143096028	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaggtttcggggggcCgaggggggacctgtgggaga	7	6	21	7	2	1	1	1	0	0	1	2	4	1	2	2	8	1	2	2	8	1	1			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr7:143096028C>T	ENST00000275815.3	-	6	1088	c.1002G>A	c.(1000-1002)tcG>tcA	p.S334S		NM_005232.4	NP_005223.4	P21709	EPHA1_HUMAN	EPH receptor A1	334	Fibronectin type-III 1.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(21)|ovary(4)|skin(1)|stomach(1)|urinary_tract(3)	51	Melanoma(164;0.205)	Myeloproliferative disorder(862;0.0255)				TTCGGGGGGCCGAGGGGGGAC	0.632													T	143096028	C	T	143096028	2	4	422	1	0	0	0	0	0	0	0	1	5206	639	23	1		1	EPHA1	7	143096028	Silent	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		143096028	16042635	10	41972											
PC	5091	broad.mit.edu	37	chr11	66619307	66619307	+	Frame_Shift_Del	DEL	C	C	-																															ggtgtagcccacagcattggCcccccgcagcagcatctgga																										TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr11:66619307delC	ENST00000393960.1	-	16	2217	c.1936delG	c.(1936-1938)gccfs	p.A646fs	PC_ENST00000393958.2_Frame_Shift_Del_p.A646fs|PC_ENST00000393955.2_Frame_Shift_Del_p.A646fs	NM_001040716.1	NP_001035806.1	P11498	PYC_HUMAN	pyruvate carboxylase	646	Carboxyltransferase.				gluconeogenesis|lipid biosynthetic process	mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|pyruvate carboxylase activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Melanoma(852;0.0525)		Lung(977;0.153)|LUSC - Lung squamous cell carcinoma(976;0.227)	Biotin(DB00121)|Pyruvic acid(DB00119)	ACAGCATTGGCCCCCCGCAGC	0.642													-	66619307	C	-	66619307	7	5	422	1	0	1	0	1	0	0	0	0	11573	739	26	0	1632	0	PC	11	66619307	Frame_Shift_Del	DEL	C	TCGA-DU-A6S6-01A-21D-A32B-08		66619307	68387209	11	41973											
INPPL1	3636	broad.mit.edu	37	chr11	71949150	71949150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcatgagtgcctggctgcGggccatcggcttggagcgct	5	8	17	11	3	0	1	0	1	0	0	1	2	0	2	2	5	3	4	2	5	0	1			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr11:71949150G>A	ENST00000541756.1	+	27	3821	c.2891G>A	c.(2890-2892)cGg>cAg	p.R964Q	INPPL1_ENST00000538751.1_Missense_Mutation_p.R964Q|INPPL1_ENST00000298229.2_Missense_Mutation_p.R1206Q			O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	1206	Pro-rich.				actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCCTGGCTGCGGGCCATCGGC	0.701											OREG0021191	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	71949150	G	A	71949150	3	1	422	1	0	0	0	0	1	0	0	0	7819	1116	39	1	3723	1	INPPL1	11	71949150	Missense_Mutation	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08	5329843	71949150	63057366	12	41974											
ZMYM2	7750	broad.mit.edu	37	chr13	20580521	20580522	+	Frame_Shift_Del	DEL	AT	AT	-																															atttttcttttagattcgccAtgaagtcagctttaaaaata																										TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr13:20580521_20580522delAT	ENST00000382869.3	+	6	1558_1559	c.1307_1308delAT	c.(1306-1308)catfs	p.H436fs	ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.H349fs|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.H436fs|ZMYM2_ENST00000382883.3_Intron|ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.H436fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TAGATTCGCCATGAAGTCAGCT	0.312													-	20580522	AT	-	20580521	7	5	422	1	0	1	0	1	0	0	0	0	17801	217	8	0	1321	0	ZMYM2	13	20580521	Frame_Shift_Del	DEL	AT	TCGA-DU-A6S6-01A-21D-A32B-08		20580521	94589357	13	41975											
CENPJ	55835	broad.mit.edu	37	chr13	25478133	25478133	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgcgttctcagctttaaacTtttctatttctgtttccaat	8	20	4	9	1	3	0	1	0	3	0	5	0	4	0	1	0	3	3	1	0	4	8			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr13:25478133T>G	ENST00000381884.4	-	8	2941	c.2756A>C	c.(2755-2757)aAg>aCg	p.K919T	CENPJ_ENST00000545981.1_Missense_Mutation_p.K919T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	919					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGCTTTAAACTTTTCTATTTC	0.363													G	25478133	T	G	25478133	3	3	422	1	0	0	0	0	1	0	0	0	3264	1609	56	5	1300	5	CENPJ	13	25478133	Missense_Mutation	SNP	T	TCGA-DU-A6S6-01A-21D-A32B-08	4897612	25478133	89691745	14	41976											
DSEL	92126	broad.mit.edu	37	chr18	65179104	65179104	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcggagtaaacgaaaatgCccactgcggatatctgacac	13	7	9	12	3	1	1	0	1	1	0	2	4	1	3	2	2	3	1	2	2	5	2			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr18:65179104C>T	ENST00000310045.7	-	2	4245	c.2772G>A	c.(2770-2772)ggG>ggA	p.G924G	CTD-2541J13.2_ENST00000583493.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	914						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACGAAAATGCCCACTGCGGA	0.438													T	65179104	C	T	65179104	2	4	422	1	0	0	0	0	0	0	0	1	4814	726	26	2		2	DSEL	18	65179104	Silent	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		65179104	12898144	15	41977											
IGFL2	147920	broad.mit.edu	37	chr19	46652260	46652260	+	Frame_Shift_Del	DEL	A	A	-																															atcatgaggttcagtgtctcAggcatgaggaccgactaccc																										TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr19:46652260delA	ENST00000434646.2	+	2	309	c.18delA	c.(16-18)tcafs	p.S6fs	IGFL2_ENST00000600243.1_Intron|IGFL2_ENST00000377693.4_Intron|AC007193.6_ENST00000597989.1_lincRNA	NM_001002915.2	NP_001002915.2	Q6UWQ7	IGFL2_HUMAN	IGF-like family member 2	0						extracellular region	protein binding			cervix(1)|lung(5)	6		Ovarian(192;0.0908)|all_neural(266;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(486;0.031)|Epithelial(262;0.247)		TCAGTGTCTCAGGCATGAGGA	0.552													-	46652260	A	-	46652260	7	5	422	1	0	1	0	1	0	0	0	0	7645	175	7	0	43	0	IGFL2	19	46652260	Frame_Shift_Del	DEL	A	TCGA-DU-A6S6-01A-21D-A32B-08		46652260	12476723	16	41978											
NLRP12	91662	broad.mit.edu	37	chr19	54314478	54314478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgacacattcccctaggcgCgcattgcggtcttccatgag	7	11	10	13	3	1	2	0	2	1	0	3	2	3	2	3	2	1	1	3	2	1	5			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr19:54314478C>T	ENST00000324134.6	-	3	603	c.435G>A	c.(433-435)gcG>gcA	p.A145A	NLRP12_ENST00000354278.3_Silent_p.A145A|NLRP12_ENST00000345770.5_Silent_p.A145A|NLRP12_ENST00000535162.1_Silent_p.A145A|NLRP12_ENST00000391772.1_Silent_p.A145A|NLRP12_ENST00000391775.3_Silent_p.A145A|NLRP12_ENST00000391773.1_Silent_p.A145A|NLRP12_ENST00000351894.4_Silent_p.A145A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	145					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding	p.A145A(1)		NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCCCTAGGCGCGCATTGCGGT	0.567													T	54314478	C	T	54314478	2	4	422	1	0	0	0	0	0	0	0	1	10550	755	27	1		1	NLRP12	19	54314478	Silent	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08	7662218	54314478	4814505	17	41979											
JAG1	182	broad.mit.edu	37	chr20	10620204	10620207	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															tttccaagtctctgttgtccTgtttgtttgtccagtttggg																										TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr20:10620204_10620207delTGTT	ENST00000254958.5	-	26	4111_4114	c.3596_3599delAACA	c.(3595-3600)aaacagfs	p.KQ1199fs	JAG1_ENST00000423891.2_Frame_Shift_Del_p.KQ1040fs	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1199					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TCTGTTGTCCTGTTTGTTTGTCCA	0.564									Alagille Syndrome				-	10620207	TGTT	-	10620204	7	5	422	1	0	1	0	1	0	0	0	0	7992	1580	55	0	61	0	JAG1	20	10620204	Frame_Shift_Del	DEL	TGTT	TCGA-DU-A6S6-01A-21D-A32B-08		10620204	52405316	18	41980											
IL2RB	3560	broad.mit.edu	37	chr22	37524753	37524753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggttgctgcttaaggatgCgggctcaggcaccttgtcct	5	12	14	10	1	1	0	1	0	0	0	2	1	2	1	2	4	3	5	2	4	1	3			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr22:37524753C>T	ENST00000216223.5	-	10	1237	c.1039G>A	c.(1039-1041)Gca>Aca	p.A347T		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	347					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	CTTAAGGATGCGGGCTCAGGC	0.607													T	37524753	C	T	37524753	3	4	422	1	0	0	0	0	1	0	0	0	7745	768	27	1	620	1	IL2RB	22	37524753	Missense_Mutation	SNP	C	TCGA-DU-A6S6-01A-21D-A32B-08		37524753	13779813	19	41981											
TCF20	6942	broad.mit.edu	37	chr22	42609709	42609709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctggccacttagttgccGcactctctcgccttgatcct	4	13	8	16	2	2	1	0	1	2	0	5	1	3	1	4	1	1	3	4	1	1	3			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chr22:42609709G>A	ENST00000359486.3	-	1	1739	c.1603C>T	c.(1603-1605)Cgg>Tgg	p.R535W	TCF20_ENST00000335626.4_Missense_Mutation_p.R535W	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	535					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTAGTTGCCGCACTCTCTCG	0.557													A	42609709	G	A	42609709	3	1	422	1	0	0	0	0	1	0	0	0	15790	1086	38	1	4317	1	TCF20	22	42609709	Missense_Mutation	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08	5084956	42609709	8694857	20	41982											
MBTPS2	51360	broad.mit.edu	37	chrX	21871590	21871590	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatttgcaacttatatcGccagtccagcagctaaggat	12	11	7	11	1	1	0	1	0	0	0	3	1	2	1	2	1	4	3	2	1	4	4			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chrX:21871590G>A	ENST00000365779.2	+	5	720	c.639G>A	c.(637-639)tcG>tcA	p.S213S	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_Silent_p.S213S			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	213					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						AACTTATATCGCCAGTCCAGC	0.348													A	21871590	G	A	21871590	2	1	422	1	0	0	0	0	0	0	0	1	9437	1074	38	1		1	MBTPS2	23	21871590	Silent	SNP	G	TCGA-DU-A6S6-01A-21D-A32B-08		21871590	133398970	21	41983											
AKAP14	158798	broad.mit.edu	37	chrX	119037475	119037475	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggagcgaaaccctttgAaaaacatcaagtggatgact	16	7	10	8	1	1	3	1	2	0	1	1	6	1	5	1	2	3	0	1	2	4	1			TCGA-DU-A6S6-01A-21D-A32B-08	TCGA-DU-A6S6-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	77449994-108b-4776-9b9f-9cbf53a23159	b7018a1e-4b23-405e-8e01-6b3856d018ff	g.chrX:119037475A>T	ENST00000371431.3	+	4	461	c.187A>T	c.(187-189)Aaa>Taa	p.K63*	AKAP14_ENST00000371422.1_Nonsense_Mutation_p.K63*|AKAP14_ENST00000394594.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000334356.2_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371425.4_Nonsense_Mutation_p.K63*|AKAP14_ENST00000371423.2_Nonsense_Mutation_p.K63*	NM_178813.5	NP_848928.1	Q86UN6	AKA28_HUMAN	A kinase (PRKA) anchor protein 14	63						cytoplasm				endometrium(4)|large_intestine(1)|lung(8)	13						AAACCCTTTGAAAAACATCAA	0.403													T	119037475	A	T	119037475	4	4	422	1	0	0	0	0	0	1	0	0	450	247	9	5	193	5	AKAP14	23	119037475	Nonsense_Mutation	SNP	A	TCGA-DU-A6S6-01A-21D-A32B-08	97165885	119037475	36233085	22	41984											
MTOR	2475	broad.mit.edu	37	chr1	11181326	11181326	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctggggcttttcagccAcagcagcttggccaggtcgt	6	9	15	11	1	1	0	1	0	0	0	2	1	1	1	2	5	4	4	2	5	0	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:11181326A>G	ENST00000361445.4	-	49	6986	c.6910T>C	c.(6910-6912)Tgg>Cgg	p.W2304R	MTOR_ENST00000376838.1_Missense_Mutation_p.W509R	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2304	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CTTTTCAGCCACAGCAGCTTG	0.587													G	11181326	A	G	11181326	3	3	423	1	0	0	0	0	1	0	0	0	10030	159	6	3	779	3	MTOR	1	11181326	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08		11181326	238069295	1	41985											
HSPG2	3339	broad.mit.edu	37	chr1	22222729	22222729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtacgaatgtgtccagcgCatttggcttgctgtgacggt	7	12	14	8	3	0	1	0	1	0	0	1	2	1	1	1	3	3	4	1	3	2	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:22222729C>T	ENST00000374695.3	-	2	217	c.138G>A	c.(136-138)atG>atA	p.M46I		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	46					angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GTGTCCAGCGCATTTGGCTTG	0.557													T	22222729	C	T	22222729	3	4	423	1	0	0	0	0	1	0	0	0	7488	710	25	2	13421	2	HSPG2	1	22222729	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	11041403	22222729	227027892	2	41986											
OCLM	10896	broad.mit.edu	37	chr1	186370195	186370196	+	Frame_Shift_Del	DEL	AT	AT	-																															ggtatggggatgtatccaccAttattgttaaagatttacct																										TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:186370195_186370196delAT	ENST00000574641.1	+	1	492_493	c.18_19delAT	c.(16-21)ccattafs	p.L9fs	C1orf27_ENST00000367470.3_Intron|C1orf27_ENST00000432021.3_Intron|C1orf27_ENST00000287859.6_Intron|C1orf27_ENST00000419367.3_Intron	NM_022375.3	NP_071770.1	Q9Y5M6	TISR_HUMAN	oculomedin	9					visual perception												TGTATCCACCATTATTGTTAAA	0.356													-	186370196	AT	-	186370195	7	5	423	1	0	1	0	1	0	0	0	0	10895	204	8	0	20	0	OCLM	1	186370195	Frame_Shift_Del	DEL	AT	TCGA-DU-A6S7-01A-21D-A32B-08	164147466	186370195	62880426	3	41987											
OR2W5	441932	broad.mit.edu	37	chr1	247655187	247655187	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtctctctcttctacGgaaccatcatctacgtgtac	8	13	7	13	2	5	0	1	0	4	0	7	1	5	1	1	2	4	1	1	2	4	4			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:247655187G>A	ENST00000522351.1	+	0	818							A6NFC9	OR2W5_HUMAN							sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R253Q(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(24)|ovary(1)|skin(4)	39	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.222)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			TCTCTTCTACGGAACCATCAT	0.537													A	247655187	G	A	247655187	1	1	423	0	1	0	0	0	0	0	0	0	11110	1116	39	1		1	OR2W5	1	247655187	RNA	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	61284992	247655187	1595434	4	41988											
OR2M5	127059	broad.mit.edu	37	chr1	248309048	248309048	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatttgaaaaggttctttTcatctgctgtatagtaatga	13	17	7	4	0	3	2	1	2	2	0	3	2	3	2	0	1	1	4	0	1	7	8			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr1:248309048T>C	ENST00000366476.1	+	1	599	c.599T>C	c.(598-600)tTc>tCc	p.F200S		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			AAGGTTCTTTTCATCTGCTGT	0.428													C	248309048	T	C	248309048	3	2	423	1	0	0	0	0	1	0	0	0	11089	1783	62	3	601	3	OR2M5	1	248309048	Missense_Mutation	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08	653861	248309048	941573	5	41989											
RPIA	22934	broad.mit.edu	37	chr2	89049582	89049582	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagtgaacatgagggagaAgcctttctgttgaccctgca	10	10	11	10	0	2	4	1	3	1	1	2	5	2	4	2	1	3	2	2	1	2	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:89049582A>C	ENST00000283646.4	+	9	978	c.923A>C	c.(922-924)aAg>aCg	p.K308T		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	308					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			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)				ATGAGGGAGAAGCCTTTCTGT	0.532													C	89049582	A	C	89049582	3	2	423	1	0	0	0	0	1	0	0	0	13644	72	3	5	957	5	RPIA	2	89049582	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08		89049582	154149791	6	41990											
COBLL1	22837	broad.mit.edu	37	chr2	165551407	165551408	+	Frame_Shift_Del	DEL	TC	TC	-																															caaaaggagctgtgccagtgTctcttgtcattttgggagca																										TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:165551407_165551408delTC	ENST00000375458.2	-	11	2715_2716	c.2494_2495delGA	c.(2494-2496)gacfs	p.D832fs	COBLL1_ENST00000342193.4_Frame_Shift_Del_p.D870fs|COBLL1_ENST00000194871.6_Frame_Shift_Del_p.D937fs|COBLL1_ENST00000392717.2_Frame_Shift_Del_p.D908fs|COBLL1_ENST00000409184.3_Frame_Shift_Del_p.D870fs	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	908										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGTGCCAGTGTCTCTTGTCATT	0.45													-	165551408	TC	-	165551407	7	5	423	1	0	1	0	1	0	0	0	0	3685	1667	58	0	903	0	COBLL1	2	165551407	Frame_Shift_Del	DEL	TC	TCGA-DU-A6S7-01A-21D-A32B-08	76501825	165551407	77647966	7	41991											
CCDC141	285025	broad.mit.edu	37	chr2	179701639	179701639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatgtcagtgtaggctctGgaaatcctgttacttcaact	10	13	8	10	0	3	0	2	0	1	0	4	1	4	1	2	2	2	3	2	2	4	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:179701639G>A	ENST00000420890.2	-	23	4424	c.4307C>T	c.(4306-4308)cCa>cTa	p.P1436L	CCDC141_ENST00000480419.1_5'UTR|CCDC141_ENST00000295723.5_Missense_Mutation_p.P861L	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	861							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TGTAGGCTCTGGAAATCCTGT	0.428													A	179701639	G	A	179701639	3	1	423	1	0	0	0	0	1	0	0	0	2801	1348	47	2	49	2	CCDC141	2	179701639	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	14150232	179701639	63497734	8	41992											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	423	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	29411474	209113113	34086260	9	41993											
BTLA	151888	broad.mit.edu	37	chr3	112185016	112185016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttacatttcttgccagtCttgagttcggtccaatgaca	8	16	7	10	1	2	2	0	2	2	0	4	2	3	2	2	1	2	1	2	1	2	6	rs138132778		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:112185016C>A	ENST00000334529.5	-	5	1011	c.809G>T	c.(808-810)aGa>aTa	p.R270I	BTLA_ENST00000383680.4_Missense_Mutation_p.R222I|BTLA_ENST00000474965.1_5'UTR	NM_181780.3	NP_861445	Q7Z6A9	BTLA_HUMAN	B and T lymphocyte associated	270					T cell costimulation		receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|large_intestine(1)|lung(5)|prostate(1)	11		Acute lymphoblastic leukemia(4;1.34e-07)|all_hematologic(4;0.000361)				TCTTGCCAGTCTTGAGTTCGG	0.423													A	112185016	C	A	112185016	3	1	423	1	0	0	0	0	1	0	0	0	1568	913	32	4	64	4	BTLA	3	112185016	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		112185016	85837414	10	41994											
CPNE4	131034	broad.mit.edu	37	chr3	131388554	131388554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctccgctgcatagagAatttacagatactttgaatg	11	13	10	7	1	1	3	0	1	1	2	2	4	1	3	1	1	3	2	1	1	5	5			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr3:131388554A>G	ENST00000512055.1	-	11	2772	c.646T>C	c.(646-648)Tct>Cct	p.S216P	CPNE4_ENST00000429747.1_Missense_Mutation_p.S216P|CPNE4_ENST00000502818.1_Missense_Mutation_p.S234P|CPNE4_ENST00000512332.1_Missense_Mutation_p.S234P|CPNE4_ENST00000511604.1_Missense_Mutation_p.S216P			Q96A23	CPNE4_HUMAN	copine IV	216	C2 2.									central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						CTGCATAGAGAATTTACAGAT	0.398													G	131388554	A	G	131388554	3	3	423	1	0	0	0	0	1	0	0	0	3845	246	9	3	1067	3	CPNE4	3	131388554	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08	19203538	131388554	66633876	11	41995											
TRPC7	57113	broad.mit.edu	37	chr5	135692453	135692453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggctgaaggagtctttcCgctgtttctcggtgcactca	6	13	12	10	2	3	1	1	1	2	0	5	2	4	2	1	3	1	4	1	3	1	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr5:135692453C>T	ENST00000513104.1	-	2	905	c.623G>A	c.(622-624)cGg>cAg	p.R208Q	TRPC7_ENST00000426057.2_Missense_Mutation_p.R208Q|TRPC7_ENST00000355180.3_Missense_Mutation_p.R208Q	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	208					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGAGTCTTTCCGCTGTTTCTC	0.597													T	135692453	C	T	135692453	3	4	423	1	0	0	0	0	1	0	0	0	16685	652	23	1	2009	1	TRPC7	5	135692453	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		135692453	45222807	12	41996											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187162	38187162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agtacttgagagtgaggaggCcacctcccctgcattggtct	8	10	12	11	0	1	2	0	2	1	1	2	4	2	3	4	3	2	2	4	3	1	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:38187162C>T	ENST00000317025.8	-	6	1832	c.1315G>A	c.(1315-1317)Gcc>Acc	p.A439T	WHSC1L1_ENST00000527502.1_Missense_Mutation_p.A439T|WHSC1L1_ENST00000316985.3_Missense_Mutation_p.A439T|WHSC1L1_ENST00000433384.2_Missense_Mutation_p.A439T	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	439					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			AGTGAGGAGGCCACCTCCCCT	0.498			T	NUP98	AML								T	38187162	C	T	38187162	3	4	423	1	0	0	0	0	1	0	0	0	17465	739	26	2	3161	2	WHSC1L1	8	38187162	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		38187162	108176860	13	41997											
COL22A1	169044	broad.mit.edu	37	chr8	139890318	139890318	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgttggtgttgcccccGtggtaggcgagacgccgggc	3	8	17	13	5	0	1	0	0	0	1	0	2	0	1	4	4	1	3	4	4	1	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr8:139890318G>A	ENST00000303045.6	-	3	779	c.333C>T	c.(331-333)caC>caT	p.H111H	COL22A1_ENST00000435777.1_Silent_p.H111H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	111	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TGTTGCCCCCGTGGTAGGCGA	0.711										HNSCC(7;0.00092)			A	139890318	G	A	139890318	2	1	423	1	0	0	0	0	0	0	0	1	3712	1136	40	1		1	COL22A1	8	139890318	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	101703156	139890318	6473704	14	41998											
OR1L4	254973	broad.mit.edu	37	chr9	125486748	125486748	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctacattccctgttccgCgtgctacttatgtctcgctt	5	15	6	15	3	1	0	0	0	1	0	4	0	3	0	3	0	3	3	3	0	3	6			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr9:125486748C>T	ENST00000259466.1	+	1	480	c.480C>T	c.(478-480)cgC>cgT	p.R160R		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						CCCTGTTCCGCGTGCTACTTA	0.478													T	125486748	C	T	125486748	2	4	423	1	0	0	0	0	0	0	0	1	11041	755	27	1		1	OR1L4	9	125486748	Silent	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		125486748	15726683	15	41999											
RET	5979	broad.mit.edu	37	chr10	43623650	43623650	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttccaagatatccaaatgAtagtgtatatgctaactgga	14	13	8	6	0	0	2	0	1	0	1	2	3	2	3	2	1	2	3	2	1	7	6			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:43623650A>G	ENST00000355710.3	+	20	3510	c.3278A>G	c.(3277-3279)gAt>gGt	p.D1093G		NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1093					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TATCCAAATGATAGTGTATAT	0.438		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				G	43623650	A	G	43623650	3	3	423	1	0	0	0	0	1	0	0	0	13323	333	12	3	3388	3	RET	10	43623650	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08		43623650	91911097	16	42000											
LIPN	643418	broad.mit.edu	37	chr10	90524167	90524167	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttaccctttcccccaccagGtccccggccagttgtgtata	6	11	7	17	1	0	0	0	0	0	0	2	0	2	0	7	2	1	2	7	2	3	5			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:90524167G>A	ENST00000404459.1	+	3	227	c.227G>A	c.(226-228)gGt>gAt	p.G76D		NM_001102469.1	NP_001095939.1	Q5VXI9	LIPN_HUMAN	lipase, family member N	76					lipid catabolic process	extracellular region	hydrolase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	9		Colorectal(252;0.0161)		Colorectal(12;4.83e-05)|COAD - Colon adenocarcinoma(12;6.5e-05)		CCCCCACCAGGTCCCCGGCCA	0.453													A	90524167	G	A	90524167	5	1	423	1	0	0	0	0	0	0	1	0	8889	1275	44	2	237	2	LIPN	10	90524167	Splice_Site	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	46900517	90524167	45010580	17	42001											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396278	+	RNA	INS	-	-	T																															tgactaacagacaaattatgINSgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:118396277_118396278insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTTT	0.421													T	118396278	-	T	118396277	6	5	423	0	1	1	1	0	0	0	0	0	12228	1363	47	0		0	PNLIPRP2	10	118396277	RNA	INS	-	TCGA-DU-A6S7-01A-21D-A32B-08	27872110	118396277	17138470	18	42002											
DMBT1	1755	broad.mit.edu	37	chr10	124348751	124348751	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggctctcccacaactgtgGccatcatgaagatgctggtg	8	10	11	12	0	2	2	1	1	1	1	3	2	2	2	2	3	2	2	2	3	2	0			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr10:124348751G>T	ENST00000338354.3	+	17	2181	c.2075G>T	c.(2074-2076)gGc>gTc	p.G692V	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.G682V|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.G692V|DMBT1_ENST00000368955.3_Missense_Mutation_p.G682V			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	692	SRCR 5.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CACAACTGTGGCCATCATGAA	0.542													T	124348751	G	T	124348751	3	4	423	1	0	0	0	0	1	0	0	0	4616	1203	42	4	2141	4	DMBT1	10	124348751	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	5952474	124348751	11185996	19	42003											
SBF2	81846	broad.mit.edu	37	chr11	9810864	9810864	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcccacttcttgaggctaGagacgtttacattgggcttt	9	14	9	9	1	1	2	0	1	1	1	2	3	2	2	1	2	1	3	1	2	3	7			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:9810864G>C	ENST00000256190.8	-	35	4861	c.4724C>G	c.(4723-4725)tCt>tGt	p.S1575C	SBF2-AS1_ENST00000534671.1_RNA|SBF2-AS1_ENST00000526617.1_RNA|SBF2-AS1_ENST00000498905.2_RNA|SBF2-AS1_ENST00000525636.1_RNA|SBF2-AS1_ENST00000499953.2_RNA	NM_030962.3	NP_112224.1	Q86WG5	MTMRD_HUMAN	SET binding factor 2	1575	Myotubularin phosphatase.				myelination	cytoplasm|membrane	phosphatase activity|protein binding			breast(4)|endometrium(8)|kidney(2)|large_intestine(8)|lung(16)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48				all cancers(16;2.88e-11)|Epithelial(150;3.61e-10)|BRCA - Breast invasive adenocarcinoma(625;0.00887)		CTTGAGGCTAGAGACGTTTAC	0.473													C	9810864	G	C	9810864	3	2	423	1	0	0	0	0	1	0	0	0	13951	942	33	4	849	4	SBF2	11	9810864	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		9810864	125195652	20	42004											
OR5D13	390142	broad.mit.edu	37	chr11	55541619	55541619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgcgatctgcaagtgggCgccagaaaactttctccacc	11	8	10	12	2	2	2	0	0	2	2	3	3	2	2	3	1	3	1	3	1	3	1			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:55541619C>T	ENST00000361760.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001001967.1	NP_001001967.1	Q8NGL4	OR5DD_HUMAN	olfactory receptor, family 5, subfamily D, member 13	236			R -> L (in dbSNP:rs7124871).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(1)|lung(20)|ovary(1)|pancreas(2)|skin(2)|stomach(1)|urinary_tract(1)	40		all_epithelial(135;0.196)				TGCAAGTGGGCGCCAGAAAAC	0.408													T	55541619	C	T	55541619	3	4	423	1	0	0	0	0	1	0	0	0	11230	768	27	1	708	1	OR5D13	11	55541619	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	45730755	55541619	79464897	21	42005											
MMP12	4321	broad.mit.edu	37	chr11	102737945	102737945	+	RNA	DEL	A	A	-																															attttccactgttttctgacAaaaaaaatttaaaggcagaa																								rs28381681		TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													-	102737945	A	-	102737945	6	5	423	0	1	1	0	1	0	0	0	0	9726	145	5	0		0	MMP12	11	102737945	RNA	DEL	A	TCGA-DU-A6S7-01A-21D-A32B-08	47196326	102737945	32268571	22	42006											
KATNAL1	84056	broad.mit.edu	37	chr13	30857773	30857773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgttgccatttgcctttgaTagctggatctctgactgact	6	16	9	10	0	1	3	0	3	1	0	2	4	1	4	2	1	3	2	2	1	1	4			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:30857773T>C	ENST00000380615.3	-	2	309	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	KATNAL1_ENST00000380617.3_Missense_Mutation_p.I48V	NM_032116.4	NP_115492.1	Q9BW62	KATL1_HUMAN	katanin p60 subunit A-like 1	48						cytoplasm|microtubule	ATP binding|microtubule-severing ATPase activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|skin(1)|urinary_tract(3)	19		Lung SC(185;0.0257)		all cancers(112;0.114)|OV - Ovarian serous cystadenocarcinoma(117;0.213)		TTGCCTTTGATAGCTGGATCT	0.398													C	30857773	T	C	30857773	3	2	423	1	0	0	0	0	1	0	0	0	8043	1406	49	3	1370	3	KATNAL1	13	30857773	Missense_Mutation	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08		30857773	84312105	23	42007											
ATP11A	23250	broad.mit.edu	37	chr13	113536317	113536317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcggcggttcccatcAccactgcagttccatcccaa	8	9	6	18	2	1	0	1	0	0	0	6	0	5	0	5	2	1	3	5	2	1	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr13:113536317A>G	ENST00000375630.2	+	29	3603	c.3515A>G	c.(3514-3516)cAc>cGc	p.H1172R	ATP11A_ENST00000487903.1_3'UTR|ATP11A_ENST00000375645.3_3'UTR	NM_032189.3	NP_115565.3	P98196	AT11A_HUMAN	ATPase, class VI, type 11A	0					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				GGTTCCCATCACCACTGCAGT	0.627													G	113536317	A	G	113536317	3	3	423	1	0	0	0	0	1	0	0	0	1124	159	6	3	3711	3	ATP11A	13	113536317	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08	82678544	113536317	1633561	24	42008											
SLC6A2	6530	broad.mit.edu	37	chr16	55730230	55730230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttcgtcatgctcctggCgctgggccttgacagctcag	4	13	12	12	2	2	1	2	1	0	0	4	1	3	1	2	2	2	4	2	2	0	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:55730230C>T	ENST00000379906.2	+	8	1496	c.1241C>T	c.(1240-1242)gCg>gTg	p.A414V	SLC6A2_ENST00000566163.1_Missense_Mutation_p.A369V|SLC6A2_ENST00000568943.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000561820.1_Missense_Mutation_p.A414V|SLC6A2_ENST00000219833.8_Missense_Mutation_p.A414V|SLC6A2_ENST00000567238.1_Missense_Mutation_p.A309V|SLC6A2_ENST00000414754.3_Missense_Mutation_p.A414V	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	414					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ATGCTCCTGGCGCTGGGCCTT	0.557													T	55730230	C	T	55730230	3	4	423	1	0	0	0	0	1	0	0	0	14777	768	27	1	1362	1	SLC6A2	16	55730230	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08		55730230	34624523	25	42009											
SDR42E1	93517	broad.mit.edu	37	chr16	82033700	82033700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgtctgcatcctggaaggcTttctctacgtcagacaggtg	8	11	11	11	2	3	1	1	0	2	1	5	2	4	2	1	3	2	2	1	3	2	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr16:82033700T>C	ENST00000328945.5	-	3	325	c.198A>G	c.(196-198)aaA>aaG	p.K66K	SDR42E1_ENST00000534209.1_5'UTR	NM_145168.2	NP_660151.2	Q8WUS8	D42E1_HUMAN	short chain dehydrogenase/reductase family 42E, member 1	66					steroid biosynthetic process	integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding			NS(2)|endometrium(1)|lung(4)|skin(3)	10						CCTGGAAGGCTTTCTCTACGT	0.473													C	82033700	T	C	82033700	2	2	423	1	0	0	0	0	0	0	0	1	14066	1606	56	3		3	SDR42E1	16	82033700	Silent	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08	26303470	82033700	8321053	26	42010											
TP53	7157	broad.mit.edu	37	chr17	7578454	7578454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgcttgtagatggccatgGcgcggacgcgggtgccgggc	5	7	18	11	5	0	1	0	0	0	1	0	2	0	2	2	5	2	2	2	5	1	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:7578454G>A	ENST00000420246.2	-	5	608	c.476C>T	c.(475-477)gCc>gTc	p.A159V	TP53_ENST00000445888.2_Missense_Mutation_p.A159V|TP53_ENST00000413465.2_Missense_Mutation_p.A159V|TP53_ENST00000359597.4_Missense_Mutation_p.A159V|TP53_ENST00000455263.2_Missense_Mutation_p.A159V|TP53_ENST00000269305.4_Missense_Mutation_p.A159V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	159	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (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.A159V(33)|p.0?(8)|p.A159D(7)|p.R158fs(6)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.R26fs(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R158fs*11(1)|p.A66V(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.A27V(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.A159_Q167delAMAIYKQSQ(1)|p.V157fs*21(1)|p.R158fs*8(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)		GATGGCCATGGCGCGGACGCG	0.627		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)			A	7578454	G	A	7578454	3	1	423	1	0	0	0	0	1	0	0	0	16482	1203	42	2	822	2	TP53	17	7578454	Missense_Mutation	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		7578454	73616756	27	42011											
MYH1	4619	broad.mit.edu	37	chr17	10411951	10411951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtcgccttggggaaCatgcactcctcttccaggat	6	12	11	12	1	2	0	0	0	2	0	5	2	4	2	3	3	2	1	3	3	1	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr17:10411951C>A	ENST00000226207.5	-	16	1720	c.1626G>T	c.(1624-1626)atG>atT	p.M542I	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	542	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CCTTGGGGAACATGCACTCCT	0.433													A	10411951	C	A	10411951	3	1	423	1	0	0	0	0	1	0	0	0	10105	478	17	4	4293	4	MYH1	17	10411951	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	2833497	10411951	70783259	28	42012											
FOXS1	2307	broad.mit.edu	37	chr20	30433325	30433325	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgggggcgccaggcccGggcagaggctgctgctgcat	4	7	19	11	2	0	1	0	0	0	1	0	1	0	1	2	5	3	6	2	5	0	1			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:30433325G>A	ENST00000375978.3	-	1	95	c.21C>T	c.(19-21)ccC>ccT	p.P7P		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	7					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P7P(1)		kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						CGCCAGGCCCGGGCAGAGGCT	0.682													A	30433325	G	A	30433325	2	1	423	1	0	0	0	0	0	0	0	1	6086	1103	39	1		1	FOXS1	20	30433325	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		30433325	32592195	29	42013											
MYL9	10398	broad.mit.edu	37	chr20	35173452	35173452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgacaaggaggacctgcaCgacatgctggcctcgctggg	9	7	14	11	2	0	1	0	1	0	0	1	4	0	3	2	4	2	3	2	4	1	1			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:35173452C>T	ENST00000279022.2	+	2	269	c.165C>T	c.(163-165)caC>caT	p.H55H	RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA|MYL9_ENST00000346786.2_Silent_p.H55H	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	55	EF-hand 1.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				AGGACCTGCACGACATGCTGG	0.547													T	35173452	C	T	35173452	2	4	423	1	0	0	0	0	0	0	0	1	10130	535	19	1		1	MYL9	20	35173452	Silent	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	4740127	35173452	27852068	30	42014											
PI3	5266	broad.mit.edu	37	chr20	43804744	43804744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagaagtgctgtgaaggcTcttgcgggatggcctgtttc	7	12	14	8	1	2	2	1	1	1	1	3	3	2	3	1	3	2	3	1	3	3	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:43804744T>C	ENST00000243924.3	+	2	369	c.322T>C	c.(322-324)Tct>Cct	p.S108P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	108	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				CTGTGAAGGCTCTTGCGGGAT	0.552													C	43804744	T	C	43804744	3	2	423	1	0	0	0	0	1	0	0	0	11947	1551	54	3	328	3	PI3	20	43804744	Missense_Mutation	SNP	T	TCGA-DU-A6S7-01A-21D-A32B-08	8631292	43804744	19220776	31	42015											
UCKL1	54963	broad.mit.edu	37	chr20	62571549	62571549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgacccgcttgtccacCgccgtggtgatgattctcac	6	12	9	14	3	2	3	2	3	1	0	4	3	3	3	4	1	0	1	4	1	0	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr20:62571549C>T	ENST00000369908.5	-	14	1775	c.1476G>A	c.(1474-1476)gcG>gcA	p.A492A	UCKL1_ENST00000354216.6_Silent_p.A507A|UCKL1_ENST00000358711.3_3'UTR|UCKL1_ENST00000369892.3_Silent_p.A507A	NM_001193379.1	NP_001180308.1	Q9NWZ5	UCKL1_HUMAN	uridine-cytidine kinase 1-like 1	507					interspecies interaction between organisms	endoplasmic reticulum|nucleus	ATP binding|phosphotransferase activity, alcohol group as acceptor|protein binding|uridine kinase activity			endometrium(3)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					GCTTGTCCACCGCCGTGGTGA	0.602													T	62571549	C	T	62571549	2	4	423	1	0	0	0	0	0	0	0	1	17027	639	23	1		1	UCKL1	20	62571549	Silent	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	18766805	62571549	453971	32	42016											
EMID1	129080	broad.mit.edu	37	chr22	29630137	29630137	+	Frame_Shift_Del	DEL	C	C	-																															gttgctcagggacccccaggCcccactggacccaaaggaat																										TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:29630137delC	ENST00000334018.6	+	11	1166	c.978delC	c.(976-978)ggcfs	p.G326fs	EMID1_ENST00000404820.3_Frame_Shift_Del_p.G326fs|EMID1_ENST00000404755.3_Intron	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	324	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GACCCCCAGGCCCCACTGGAC	0.642													-	29630137	C	-	29630137	7	5	423	1	0	1	0	1	0	0	0	0	5132	726	26	0	1020	0	EMID1	22	29630137	Frame_Shift_Del	DEL	C	TCGA-DU-A6S7-01A-21D-A32B-08		29630137	21674429	33	42017											
CELSR1	9620	broad.mit.edu	37	chr22	46780468	46780468	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggtctgaagaagtcGgctgggaaggagacggagga	11	6	19	5	2	2	3	1	1	1	2	3	7	2	6	0	7	0	1	0	7	3	0			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chr22:46780468G>A	ENST00000262738.3	-	20	6854	c.6855C>T	c.(6853-6855)gcC>gcT	p.A2285A		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2285					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TGAAGAAGTCGGCTGGGAAGG	0.587													A	46780468	G	A	46780468	2	1	423	1	0	0	0	0	0	0	0	1	3251	1103	39	1		1	CELSR1	22	46780468	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08	17150331	46780468	4524098	34	42018											
ARSD	414	broad.mit.edu	37	chrX	2825456	2825456	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccgatgctccgacaccgcGgcacctacccttgctatcac	7	8	8	18	4	1	0	1	0	0	0	2	2	2	0	5	1	4	3	5	1	2	3			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:2825456G>A	ENST00000381154.1	-	10	1713	c.1638C>T	c.(1636-1638)gcC>gcT	p.A546A		NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	546						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CCGACACCGCGGCACCTACCC	0.647													A	2825456	G	A	2825456	2	1	423	1	0	0	0	0	0	0	0	1	994	1103	39	1		1	ARSD	23	2825456	Silent	SNP	G	TCGA-DU-A6S7-01A-21D-A32B-08		2825456	152445104	35	42019											
WNK3	65267	broad.mit.edu	37	chrX	54321052	54321052	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtctaacatgttgatcaaCttcagtttcttcacattcag	10	17	5	9	0	6	1	4	1	2	0	6	1	6	1	0	0	2	2	0	0	2	7			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:54321052C>A	ENST00000354646.2	-	8	2065	c.1627G>T	c.(1627-1629)Gtt>Ttt	p.V543F	WNK3_ENST00000375159.2_Missense_Mutation_p.V543F|WNK3_ENST00000375169.3_Missense_Mutation_p.V543F	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	543					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						TGTTGATCAACTTCAGTTTCT	0.453													A	54321052	C	A	54321052	3	1	423	1	0	0	0	0	1	0	0	0	17481	565	20	4	3843	4	WNK3	23	54321052	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	51495596	54321052	100949508	36	42020											
OGT	8473	broad.mit.edu	37	chrX	70783246	70783246	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaatatgcctgttattcCtatgaatactattgcagaag	12	16	6	7	0	1	2	0	1	1	1	2	2	2	2	2	0	3	2	2	0	8	8			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:70783246C>T	ENST00000373719.3	+	18	2550	c.2333C>T	c.(2332-2334)cCt>cTt	p.P778L	OGT_ENST00000373701.3_Missense_Mutation_p.P768L	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	778					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CCTGTTATTCCTATGAATACT	0.358													T	70783246	C	T	70783246	3	4	423	1	0	0	0	0	1	0	0	0	10923	681	24	2	2403	2	OGT	23	70783246	Missense_Mutation	SNP	C	TCGA-DU-A6S7-01A-21D-A32B-08	16462194	70783246	84487314	37	42021											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814306	ATAA	-	76814303	7	5	423	1	0	1	0	1	0	0	0	0	1213	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-DU-A6S7-01A-21D-A32B-08	6031057	76814303	78456257	38	42022											
GPRASP1	9737	broad.mit.edu	37	chrX	101911243	101911243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagactagagaagaagAcaggctagcagctgagaaag	16	5	14	6	0	0	5	0	2	0	5	0	8	0	5	0	1	3	4	0	1	5	2			TCGA-DU-A6S7-01A-21D-A32B-08	TCGA-DU-A6S7-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	952ca0aa-58ee-4267-9db2-6d27b3ad9012	a8b2c3a7-4dbd-4560-a1fc-0bf14103bf7e	g.chrX:101911243A>G	ENST00000537097.1	+	6	3215	c.2402A>G	c.(2401-2403)gAc>gGc	p.D801G	RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.D801G|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D801G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.D801G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	801	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGAGAAGAAGACAGGCTAGCA	0.527													G	101911243	A	G	101911243	3	3	423	1	0	0	0	0	1	0	0	0	6777	275	10	3	2404	3	GPRASP1	23	101911243	Missense_Mutation	SNP	A	TCGA-DU-A6S7-01A-21D-A32B-08	25096940	101911243	53359317	39	42023											
ACTRT2	140625	broad.mit.edu	37	chr1	2938806	2938806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaccaagctccacgtggcgGgcagggacatcacggagctc	9	5	13	14	3	2	0	2	0	0	0	4	2	3	2	2	4	2	3	2	4	1	0			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:2938806G>A	ENST00000378404.2	+	1	761	c.556G>A	c.(556-558)Ggc>Agc	p.G186S		NM_080431.4	NP_536356.3	Q8TDY3	ACTT2_HUMAN	actin-related protein T2	186						cytoplasm|cytoskeleton				breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	26	all_cancers(77;0.00205)|all_epithelial(69;0.0011)|Ovarian(185;0.0634)|Lung NSC(156;0.0893)|all_lung(157;0.0909)	all_epithelial(116;2.66e-20)|all_lung(118;1.56e-08)|Lung NSC(185;2.54e-06)|Breast(487;0.00156)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;7.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.15e-22)|GBM - Glioblastoma multiforme(42;1.1e-12)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000329)|BRCA - Breast invasive adenocarcinoma(365;0.000949)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.125)		CCACGTGGCGGGCAGGGACAT	0.637													A	2938806	G	A	2938806	3	1	424	1	0	0	0	0	1	0	0	0	219	1232	43	2	558	2	ACTRT2	1	2938806	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		2938806	246311815	1	42024											
ASPM	259266	broad.mit.edu	37	chr1	197070715	197070715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttgtattacgatagaagCtttgtgtttttcccttaaaa	10	18	7	6	1	0	1	0	0	0	1	1	2	1	1	1	0	2	4	1	0	6	8			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:197070715C>T	ENST00000367409.4	-	18	7922	c.7666G>A	c.(7666-7668)Gct>Act	p.A2556T	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2556	IQ 27.				mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACGATAGAAGCTTTGTGTTTT	0.348													T	197070715	C	T	197070715	3	4	424	1	0	0	0	0	1	0	0	0	1061	797	28	2	2811	2	ASPM	1	197070715	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	194131909	197070715	52179906	2	42025											
KMO	8564	broad.mit.edu	37	chr1	241731922	241731922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcatgctatagtgcCgttttttgggcaaggaatga	9	13	12	7	1	1	1	1	1	0	0	1	2	1	2	1	2	4	5	1	2	4	5			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr1:241731922C>T	ENST00000366559.4	+	10	1243	c.932C>T	c.(931-933)cCg>cTg	p.P311L	KMO_ENST00000366558.3_Missense_Mutation_p.P311L|KMO_ENST00000366557.4_Missense_Mutation_p.P311L	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	311					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			GCTATAGTGCCGTTTTTTGGG	0.433													T	241731922	C	T	241731922	3	4	424	1	0	0	0	0	1	0	0	0	8482	652	23	1	970	1	KMO	1	241731922	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	44661207	241731922	7518699	3	42026											
ERCC3	2071	broad.mit.edu	37	chr2	128030454	128030454	+	Frame_Shift_Del	DEL	A	A	-																															cacaaaccttggatatgaagAtggtgttaattttggggttg																										TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:128030454delA	ENST00000493187.2	-	11	2085	c.1622delT	c.(1621-1623)atcfs	p.I541fs	ERCC3_ENST00000285398.2_Frame_Shift_Del_p.I605fs			P19447	ERCC3_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 3	605					cell cycle checkpoint|DNA topological change|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA duplex unwinding|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein localization|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	3'-5' DNA helicase activity|ATP binding|damaged DNA binding|protein C-terminus binding|protein N-terminus binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	31	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GGATATGAAGATGGTGTTAAT	0.483			"Mis, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				-	128030454	A	-	128030454	7	5	424	1	0	1	0	1	0	0	0	0	5255	333	12	0	554	0	ERCC3	2	128030454	Frame_Shift_Del	DEL	A	TCGA-DU-A6S8-01A-12D-A32B-08		128030454	115168919	4	42027											
TBR1	10716	broad.mit.edu	37	chr2	162273034	162273034	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgtcttgcacgatcatcCcattatctcgaccactgaca	9	12	6	14	2	3	1	1	1	2	0	5	3	4	1	2	0	1	2	2	0	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:162273034C>G	ENST00000389554.3	+	1	430	c.113C>G	c.(112-114)cCc>cGc	p.P38R		NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	38						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CACGATCATCCCATTATCTCG	0.463													G	162273034	C	G	162273034	3	3	424	1	0	0	0	0	1	0	0	0	15747	623	22	4	115	4	TBR1	2	162273034	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	34242580	162273034	80926339	5	42028											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	424	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	46840078	209113112	34086261	6	42029											
LANCL1	10314	broad.mit.edu	37	chr2	211302538	211302538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaatttcagctggcagacgTagtctacactgggcttgacc	9	10	12	10	1	2	2	1	1	1	1	2	3	2	3	1	3	2	4	1	3	3	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:211302538T>C	ENST00000443314.1	-	6	1091	c.749A>G	c.(748-750)tAc>tGc	p.Y250C	LANCL1_ENST00000441020.3_Missense_Mutation_p.Y250C|LANCL1_ENST00000450366.2_Missense_Mutation_p.Y250C|AC007970.1_ENST00000420418.1_RNA|AC007970.1_ENST00000433296.1_RNA|LANCL1_ENST00000233714.4_Missense_Mutation_p.Y250C|LANCL1_ENST00000431941.2_Missense_Mutation_p.Y250C			O43813	LANC1_HUMAN	LanC lantibiotic synthetase component C-like 1 (bacterial)	250						cytoplasm|integral to plasma membrane|microtubule cytoskeleton|nucleus	catalytic activity|G-protein coupled receptor activity|glutathione binding|low-density lipoprotein particle receptor binding|SH3 domain binding|zinc ion binding			breast(1)|large_intestine(5)|liver(1)|lung(4)|prostate(1)	12				Epithelial(149;0.00562)|Lung(261;0.0468)|LUSC - Lung squamous cell carcinoma(261;0.0495)|all cancers(144;0.0569)		CTGGCAGACGTAGTCTACACT	0.463													C	211302538	T	C	211302538	3	2	424	1	0	0	0	0	1	0	0	0	8679	1638	57	3	466	3	LANCL1	2	211302538	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	2189426	211302538	31896835	7	42030											
STK36	27148	broad.mit.edu	37	chr2	219557982	219557982	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctgttggcatttggcaaAtcagctaactgaagacagca	12	10	11	8	0	2	2	1	1	1	1	2	2	2	2	0	3	3	5	0	3	3	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr2:219557982A>G	ENST00000295709.3	+	17	2342	c.2063A>G	c.(2062-2064)aAt>aGt	p.N688S	STK36_ENST00000392106.2_Missense_Mutation_p.N688S|STK36_ENST00000440309.1_Missense_Mutation_p.N688S|STK36_ENST00000392105.3_Missense_Mutation_p.N688S	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	688					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		CATTTGGCAAATCAGCTAACT	0.478													G	219557982	A	G	219557982	3	3	424	1	0	0	0	0	1	0	0	0	15398	101	4	3	2125	3	STK36	2	219557982	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	8255444	219557982	23641391	8	42031											
PLD1	5337	broad.mit.edu	37	chr3	171455389	171455389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggacagccggagagatacGtctgtatattaggctcctta	10	12	11	8	2	1	1	0	0	1	1	2	4	2	3	2	3	2	2	2	3	5	6			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr3:171455389G>A	ENST00000356327.5	-	3	291	c.221C>T	c.(220-222)aCg>aTg	p.T74M	PLD1_ENST00000351298.4_Missense_Mutation_p.T74M|PLD1_ENST00000340989.4_Missense_Mutation_p.T74M|PLD1_ENST00000342215.6_Missense_Mutation_p.T74M	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	74					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity	p.T74M(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GGAGAGATACGTCTGTATATT	0.358													A	171455389	G	A	171455389	3	1	424	1	0	0	0	0	1	0	0	0	12122	1145	40	1	3103	1	PLD1	3	171455389	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		171455389	26567041	9	42032											
GK2	2712	broad.mit.edu	37	chr4	80327935	80327935	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaagcctggggttcaaGgctccaaacgcttactccct	10	9	9	13	1	1	1	1	1	0	0	3	1	3	1	3	3	3	3	3	3	4	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr4:80327935G>T	ENST00000358842.3	-	1	1437	c.1420C>A	c.(1420-1422)Ctt>Att	p.L474I		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	474					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGGGTTCAAGGCTCCAAACG	0.478													T	80327935	G	T	80327935	3	4	424	1	0	0	0	0	1	0	0	0	6477	1000	35	4	245	4	GK2	4	80327935	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		80327935	110826341	10	42033											
TRIM2	23321	broad.mit.edu	37	chr4	154216540	154216540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagcaacttcacagcgcagGccctcaaccatggcacggag	11	4	11	15	2	2	0	2	0	0	0	2	1	2	1	2	3	4	4	2	3	2	1			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr4:154216540G>A	ENST00000338700.5	+	6	927	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	TRIM2_ENST00000494872.1_3'UTR|TRIM2_ENST00000437508.2_Missense_Mutation_p.A261T	NM_015271.3	NP_056086.2	Q9C040	TRIM2_HUMAN	tripartite motif containing 2	261						cytoplasm	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)	19	all_hematologic(180;0.093)	Medulloblastoma(177;0.00225)		GBM - Glioblastoma multiforme(119;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0703)		CACAGCGCAGGCCCTCAACCA	0.617													A	154216540	G	A	154216540	3	1	424	1	0	0	0	0	1	0	0	0	16595	1203	42	2	884	2	TRIM2	4	154216540	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	73888605	154216540	36937736	11	42034											
KIAA0319	9856	broad.mit.edu	37	chr6	24559320	24559320	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcatgtgcagatttcgggcCacttcagcagctttgagaac	9	10	11	11	2	1	2	1	1	0	2	2	3	1	2	1	1	4	4	1	1	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr6:24559320C>T	ENST00000535378.1	-	18	3270	c.2628G>A	c.(2626-2628)gtG>gtA	p.V876V	KIAA0319_ENST00000430948.2_Silent_p.V840V|KIAA0319_ENST00000543707.1_Silent_p.V885V|KIAA0319_ENST00000378214.3_Silent_p.V885V|KIAA0319_ENST00000537886.1_Silent_p.V885V	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	885					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GATTTCGGGCCACTTCAGCAG	0.493													T	24559320	C	T	24559320	2	4	424	1	0	0	0	0	0	0	0	1	8226	581	21	2		2	KIAA0319	6	24559320	Silent	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		24559320	146555747	12	42035											
HIST1H2BC	8347	broad.mit.edu	37	chr6	26124122	26124122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgggagcagacttggctGgctcaggcatcttaaaacac	10	7	14	10	1	2	1	1	0	1	1	2	2	2	2	0	5	2	4	0	5	2	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr6:26124122G>A	ENST00000314332.5	-	1	16	c.11C>T	c.(10-12)cCa>cTa	p.P4L	HIST1H2BC_ENST00000396984.1_Missense_Mutation_p.P4L			P62807	H2B1C_HUMAN	histone cluster 1, H2bc	4					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	16						AGACTTGGCTGGCTCAGGCAT	0.507													A	26124122	G	A	26124122	3	1	424	1	0	0	0	0	1	0	0	0	7197	1348	47	2	373	2	HIST1H2BC	6	26124122	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	1564802	26124122	144990945	13	42036											
C7orf10	79783	broad.mit.edu	37	chr7	40535964	40535964	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcccaatcaacaacatgaaGaatgtatttgcagaacctca	16	8	7	10	0	2	3	2	1	0	2	2	3	2	3	2	1	4	2	2	1	7	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:40535964G>C	ENST00000309930.5	+	12	1113	c.1089G>C	c.(1087-1089)aaG>aaC	p.K363N	C7orf10_ENST00000335693.4_Missense_Mutation_p.K363N|C7orf10_ENST00000401647.2_Missense_Mutation_p.K315N	NM_001193311.1|NM_024728.2	NP_001180240.1|NP_079004.1	Q9HAC7	CG010_HUMAN	chromosome 7 open reading frame 10	363							transferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)	18						ACAACATGAAGAATGTATTTG	0.403													C	40535964	G	C	40535964	3	2	424	1	0	0	0	0	1	0	0	0	2400	933	33	4	1024	4	C7orf10	7	40535964	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		40535964	118602699	14	42037											
TAS2R16	50833	broad.mit.edu	37	chr7	122635560	122635560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaatcatgtccacaggCatcagccttctgacttgcag	11	10	9	11	0	3	2	2	2	1	1	4	3	4	2	2	1	2	2	2	1	1	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr7:122635560C>T	ENST00000249284.2	-	1	194	c.129G>A	c.(127-129)atG>atA	p.M43I		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	43					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGTCCACAGGCATCAGCCTTC	0.443													T	122635560	C	T	122635560	3	4	424	1	0	0	0	0	1	0	0	0	15666	710	25	2	750	2	TAS2R16	7	122635560	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	82099596	122635560	36503103	15	42038											
MYOM2	9172	broad.mit.edu	37	chr8	2037956	2037956	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgagtgctgtcagcaaaccgGcatggcctgagcgaaccttc	9	7	12	13	3	1	1	1	1	0	0	2	3	1	1	3	2	5	3	3	2	2	1	rs146528852		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr8:2037956G>A	ENST00000262113.4	+	15	1911	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	MYOM2_ENST00000523438.1_Silent_p.R15R	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	590	Fibronectin type-III 2.				muscle contraction	myosin filament	structural constituent of muscle			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		CAGCAAACCGGCATGGCCTGA	0.572													A	2037956	G	A	2037956	2	1	424	1	0	0	0	0	0	0	0	1	10168	1190	42	2		2	MYOM2	8	2037956	Silent	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		2037956	144326066	16	42039											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18826274	18826274	+	Frame_Shift_Del	DEL	C	C	-																															gttttttgttttttttttttCttcctaggagtgcctgaagc																								rs80308610		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr9:18826274delC	ENST00000380545.5	+	1	139	c.30delC	c.(28-30)ttcfs	p.F11fs	ADAMTSL1_ENST00000380548.4_Intron			Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	0						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTTTTTTTTTCTTCCTAGGAG	0.488													-	18826274	C	-	18826274	7	5	424	1	0	1	0	1	0	0	0	0	274	928	32	0		0	ADAMTSL1	9	18826274	Frame_Shift_Del	DEL	C	TCGA-DU-A6S8-01A-12D-A32B-08		18826274	122387157	17	42040											
TAF1L	138474	broad.mit.edu	37	chr9	32633529	32633529	+	Frame_Shift_Del	DEL	A	A	-																															agatcctgaggtgtgcgcatAaaaaacaactctccaccacc																										TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr9:32633529delA	ENST00000242310.4	-	1	2138	c.2049delT	c.(2047-2049)tttfs	p.F683fs	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	683					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTGTGCGCATAAAAAACAACT	0.453													-	32633529	A	-	32633529	7	5	424	1	0	1	0	1	0	0	0	0	15620	359	13	0	3435	0	TAF1L	9	32633529	Frame_Shift_Del	DEL	A	TCGA-DU-A6S8-01A-12D-A32B-08	13807255	32633529	108579902	18	42041											
ST8SIA6	338596	broad.mit.edu	37	chr10	17362896	17362896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaggcgacttcacatttgCtaaattgcagtttgaggatt	10	16	9	6	1	1	1	1	1	0	0	1	3	1	2	0	2	2	3	0	2	3	8			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:17362896C>T	ENST00000377602.4	-	8	1252	c.1178G>A	c.(1177-1179)aGc>aAc	p.S393N		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	393					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TTCACATTTGCTAAATTGCAG	0.378													T	17362896	C	T	17362896	3	4	424	1	0	0	0	0	1	0	0	0	15332	797	28	2	22	2	ST8SIA6	10	17362896	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		17362896	118171851	19	42042											
A1CF	29974	broad.mit.edu	37	chr10	52573649	52573649	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaattccttggggttttaAtgtgacaggattcattgggg	8	17	12	4	0	1	1	1	1	0	0	2	2	2	2	1	5	0	1	1	5	2	8			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:52573649A>G	ENST00000374001.2	-	9	1430	c.1291T>C	c.(1291-1293)Tta>Cta	p.L431L	A1CF_ENST00000395495.1_Silent_p.L384L|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Silent_p.L431L|A1CF_ENST00000373993.1_Silent_p.L439L|A1CF_ENST00000395489.2_Silent_p.L432L|A1CF_ENST00000373995.3_Silent_p.L439L|A1CF_ENST00000282641.2_Silent_p.L439L|A1CF_ENST00000493415.1_5'UTR			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TGGGGTTTTAATGTGACAGGA	0.418													G	52573649	A	G	52573649	2	3	424	1	0	0	0	0	0	0	0	1	2	98	4	3		3	A1CF	10	52573649	Silent	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	35210753	52573649	82961098	20	42043											
IFIT5	24138	broad.mit.edu	37	chr10	91178247	91178247	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaagagactttgtcacAatgctttagatgtgcagagt	12	12	9	8	0	1	3	1	0	0	3	1	4	1	3	1	0	3	2	1	0	4	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:91178247A>G	ENST00000371795.4	+	2	1504	c.1291A>G	c.(1291-1293)Aat>Gat	p.N431D	IFIT5_ENST00000416601.1_Missense_Mutation_p.N383D	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	431							binding			endometrium(1)|large_intestine(4)|lung(4)	9						ACTTTGTCACAATGCTTTAGA	0.423													G	91178247	A	G	91178247	3	3	424	1	0	0	0	0	1	0	0	0	7583	130	5	3	1297	3	IFIT5	10	91178247	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	38604598	91178247	44356500	21	42044											
TNKS2	80351	broad.mit.edu	37	chr10	93590720	93590720	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatcccaaaagaaagcaaaTatgtgaactgttgctaagaa	19	9	7	6	0	0	3	0	1	0	2	1	3	1	3	1	0	3	3	1	0	9	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:93590720T>C	ENST00000371627.4	+	10	1524	c.1145T>C	c.(1144-1146)aTa>aCa	p.I382T		NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2	382					positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGAAAGCAAATATGTGAACTG	0.294													C	93590720	T	C	93590720	3	2	424	1	0	0	0	0	1	0	0	0	16421	1406	49	3	1183	3	TNKS2	10	93590720	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	2412473	93590720	41944027	22	42045											
ADRA2A	150	broad.mit.edu	37	chr10	112839099	112839099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcaaccacgatttcCgccgcgccttcaagaagatc	10	9	6	16	4	3	2	2	0	1	2	5	3	4	2	5	0	1	0	5	0	3	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr10:112839099C>T	ENST00000280155.2	+	1	2310	c.1345C>T	c.(1345-1347)Cgc>Tgc	p.R449C		NM_000681.3	NP_000672.3	P08913	ADA2A_HUMAN	adrenoceptor alpha 2A	434					actin cytoskeleton organization|activation of MAPK activity by adrenergic receptor signaling pathway|activation of phospholipase C activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cellular component movement|cellular response to hormone stimulus|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|glucose homeostasis|inhibition of adenylate cyclase activity by adrenergic receptor signaling pathway|intestinal absorption|negative regulation of adrenergic receptor signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of cAMP biosynthetic process|negative regulation of epinephrine secretion|negative regulation of insulin secretion involved in cellular response to glucose stimulus|negative regulation of lipid catabolic process|negative regulation of norepinephrine secretion|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cytokine production|positive regulation of membrane protein ectodomain proteolysis|positive regulation of potassium ion transport|positive regulation of wound healing|Rho protein signal transduction	basolateral plasma membrane|cytoplasm|integral to plasma membrane|receptor complex	alpha-1B adrenergic receptor binding|alpha-2C adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|heterotrimeric G-protein binding|norepinephrine binding|protein heterodimerization activity|protein homodimerization activity|protein kinase binding|thioesterase binding			breast(1)|cervix(3)|endometrium(6)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(234;0.0735)|Lung NSC(174;0.238)		Epithelial(162;0.000316)|all cancers(201;0.00501)|BRCA - Breast invasive adenocarcinoma(275;0.118)	Amitriptyline(DB00321)|Amphetamine(DB00182)|Apraclonidine(DB00964)|Benzphetamine(DB00865)|Bethanidine(DB00217)|Brimonidine(DB00484)|Clonidine(DB00575)|Debrisoquin(DB04840)|Dexmedetomidine(DB00633)|Dipivefrin(DB00449)|Epinastine(DB00751)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Lofexidine(DB04948)|Methyldopa(DB00968)|Mianserin(DB06148)|Mirtazapine(DB00370)|Norepinephrine(DB00368)|Oxymetazoline(DB00935)|Phentolamine(DB00692)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Tizanidine(DB00697)|Trazodone(DB00656)|Yohimbine(DB01392)	CCACGATTTCCGCCGCGCCTT	0.592													T	112839099	C	T	112839099	3	4	424	1	0	0	0	0	1	0	0	0	337	652	23	1	1347	1	ADRA2A	10	112839099	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	19248379	112839099	22695648	23	42046											
PKP3	11187	broad.mit.edu	37	chr11	399104	399104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctacgacaacgctgAcaacaagctggccctggtgg	10	7	10	14	2	2	1	1	1	1	0	2	2	2	1	2	3	4	2	2	3	4	1			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:399104A>G	ENST00000331563.2	+	5	1257	c.1181A>G	c.(1180-1182)gAc>gGc	p.D394G		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	394					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GACAACGCTGACAACAAGCTG	0.597													G	399104	A	G	399104	3	3	424	1	0	0	0	0	1	0	0	0	12063	275	10	3	1199	3	PKP3	11	399104	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08		399104	134607412	24	42047											
C11orf16	56673	broad.mit.edu	37	chr11	8947615	8947615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcactttagcagctttgCcattccagaaatgaacagtg	11	10	11	9	0	0	2	0	1	0	1	1	2	1	2	2	2	4	3	2	2	3	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:8947615C>T	ENST00000326053.5	-	5	705	c.599G>A	c.(598-600)gGc>gAc	p.G200D	C11orf16_ENST00000525780.1_Missense_Mutation_p.G200D	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	200										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		AGCAGCTTTGCCATTCCAGAA	0.428													T	8947615	C	T	8947615	3	4	424	1	0	0	0	0	1	0	0	0	1642	739	26	2	812	2	C11orf16	11	8947615	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	8548511	8947615	126058901	25	42048											
CKAP5	9793	broad.mit.edu	37	chr11	46782334	46782334	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcatatccttttcagaaaGctgtaaagaggccaaattta	14	12	7	8	0	2	2	2	0	0	2	3	2	3	2	2	1	1	3	2	1	6	6			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:46782334G>A	ENST00000529230.1	-	33	4268	c.4222C>T	c.(4222-4224)Ctt>Ttt	p.L1408F	CKAP5_ENST00000312055.5_Splice_Site_p.L1408F|CKAP5_ENST00000415402.1_Splice_Site_p.L1408F|CKAP5_ENST00000354558.3_Splice_Site_p.L1408F			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	1408					cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding			breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TTTTCAGAAAGCTGTAAAGAG	0.388													A	46782334	G	A	46782334	5	1	424	1	0	0	0	0	0	0	1	0	3476	985	34	2	1924	2	CKAP5	11	46782334	Splice_Site	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	37834719	46782334	88224182	26	42049											
ANO1	55107	broad.mit.edu	37	chr11	70013431	70013431	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtgaagaggaaacagcGgtacgaggtggattacaacc	13	7	15	6	2	0	2	0	1	0	1	0	5	0	4	1	4	5	1	1	4	5	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:70013431G>A	ENST00000355303.5	+	21	2440	c.2135G>A	c.(2134-2136)cGg>cAg	p.R712Q	ANO1_ENST00000530676.1_Missense_Mutation_p.R566Q|ANO1_ENST00000398543.2_Missense_Mutation_p.R566Q|ANO1_ENST00000531349.1_Missense_Mutation_p.R421Q|ANO1_ENST00000538023.1_Missense_Mutation_p.R712Q	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	712					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						AGGAAACAGCGGTACGAGGTG	0.562													A	70013431	G	A	70013431	3	1	424	1	0	0	0	0	1	0	0	0	695	1116	39	1	2217	1	ANO1	11	70013431	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	23231097	70013431	64993085	27	42050											
FOLH1B	219595	broad.mit.edu	37	chr11	89421732	89421734	+	RNA	DEL	TGT	TGT	-																															aaattactttgaaataattcTgttgttttatctctaaaagg																										TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr11:89421732_89421734delTGT	ENST00000532352.1	+	0	1421							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GAAATAATTCTGTTGTTTTATCT	0.315													-	89421734	TGT	-	89421732	6	5	424	0	1	1	0	1	0	0	0	0	6029	1595	55	0		0	FOLH1B	11	89421732	RNA	DEL	TGT	TCGA-DU-A6S8-01A-12D-A32B-08	19408301	89421732	45584784	28	42051											
PDE3A	5139	broad.mit.edu	37	chr12	20783011	20783011	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttaacttacactcagagTgccccagacctatcccctca	10	9	5	17	0	2	2	2	0	0	2	3	2	3	2	6	0	3	0	6	0	3	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:20783011T>C	ENST00000359062.3	+	6	1750	c.1710T>C	c.(1708-1710)agT>agC	p.S570S	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	570					lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	ACACTCAGAGTGCCCCAGACC	0.423													C	20783011	T	C	20783011	2	2	424	1	0	0	0	0	0	0	0	1	11713	1693	59	3		3	PDE3A	12	20783011	Silent	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08		20783011	113068884	29	42052											
LRP1	4035	broad.mit.edu	37	chr12	57596983	57596986	+	Frame_Shift_Del	DEL	GAGT	GAGT	-																															gcccctcggccctgctccgaGagtgagttctcctgtgccaa																										TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:57596983_57596986delGAGT	ENST00000243077.3	+	69	11197_11200	c.10731_10734delGAGT	c.(10729-10734)gagagtfs	p.ES3577fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3577	LDL-receptor class A 27.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTGCTCCGAGAGTGAGTTCTCCT	0.676													-	57596986	GAGT	-	57596983	7	5	424	1	0	1	0	1	0	0	0	0	9021	933	33	0	11005	0	LRP1	12	57596983	Frame_Shift_Del	DEL	GAGT	TCGA-DU-A6S8-01A-12D-A32B-08	36813972	57596983	76254912	30	42053											
IGF1	3479	broad.mit.edu	37	chr12	102813295	102813295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgggcttaccttctgggTcttgggcatgtcggtgtggc	3	13	17	8	1	2	0	0	0	2	0	3	0	2	0	1	6	1	2	1	6	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:102813295T>C	ENST00000456098.1	-	3	612	c.394A>G	c.(394-396)Acc>Gcc	p.T132A	IGF1_ENST00000424202.2_Missense_Mutation_p.T116A|IGF1_ENST00000337514.6_Missense_Mutation_p.T132A|IGF1_ENST00000307046.8_Missense_Mutation_p.T132A|IGF1_ENST00000392904.1_Missense_Mutation_p.T132A	NM_001111283.1	NP_001104753.1	P05019	IGF1_HUMAN	insulin-like growth factor 1 (somatomedin C)	132					anti-apoptosis|bone mineralization involved in bone maturation|cellular component movement|DNA replication|glycolate metabolic process|muscle hypertrophy|myoblast differentiation|myoblast proliferation|myotube cell development|negative regulation of smooth muscle cell apoptosis|phosphatidylinositol-mediated signaling|platelet activation|platelet degranulation|positive regulation of activated T cell proliferation|positive regulation of DNA replication|positive regulation of epithelial cell proliferation|positive regulation of fibroblast proliferation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis|positive regulation of osteoblast differentiation|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of Ras protein signal transduction|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tyrosine phosphorylation of Stat5 protein|Ras protein signal transduction|regulation of multicellular organism growth|satellite cell maintenance involved in skeletal muscle regeneration	platelet alpha granule lumen	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)	11						ACCTTCTGGGTCTTGGGCATG	0.592													C	102813295	T	C	102813295	3	2	424	1	0	0	0	0	1	0	0	0	7628	1667	58	3	265	3	IGF1	12	102813295	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	45216312	102813295	31038600	31	42054											
FOXN4	121643	broad.mit.edu	37	chr12	109719350	109719350	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgaggtccggcagggCgtgcagtggcggggtctggg	3	6	24	8	3	1	1	0	1	1	0	2	1	2	1	1	9	1	3	1	9	0	0			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr12:109719350C>A	ENST00000299162.5	-	9	1260	c.1156G>T	c.(1156-1158)Gcc>Tcc	p.A386S	FOXN4_ENST00000355216.1_Missense_Mutation_p.A206S	NM_213596.2	NP_998761.2	Q96NZ1	FOXN4_HUMAN	forkhead box N4	386					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						TCCGGCAGGGCGTGCAGTGGC	0.657													A	109719350	C	A	109719350	3	1	424	1	0	0	0	0	1	0	0	0	6073	768	27	4	405	4	FOXN4	12	109719350	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	6906055	109719350	24132545	32	42055											
CHD8	57680	broad.mit.edu	37	chr14	21897261	21897261	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggggctgtggctgcgaTgatggtggttgtggtacaat	5	13	18	5	1	0	1	0	1	0	0	0	2	0	1	0	6	3	5	0	6	2	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr14:21897261T>C	ENST00000399982.2	-	2	1141	c.1077A>G	c.(1075-1077)tcA>tcG	p.S359S	CHD8_ENST00000430710.3_Silent_p.S80S|CHD8_ENST00000557364.1_Silent_p.S359S|CHD8_ENST00000555962.1_Intron	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	359	Gln-rich.				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		GTGGCTGCGATGATGGTGGTT	0.557													C	21897261	T	C	21897261	2	2	424	1	0	0	0	0	0	0	0	1	3361	1451	51	3		3	CHD8	14	21897261	Silent	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08		21897261	85452279	33	42056											
ATG2B	55102	broad.mit.edu	37	chr14	96795934	96795934	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgggaagctgatctttgtcTttgttcataggatactttaa	9	17	9	6	1	3	1	1	1	2	0	4	3	3	3	0	2	2	2	0	2	4	7			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr14:96795934T>A	ENST00000359933.4	-	12	2661	c.1768A>T	c.(1768-1770)Aga>Tga	p.R590*		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	590										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		GATCTTTGTCTTTGTTCATAG	0.323													A	96795934	T	A	96795934	4	1	424	1	0	0	0	0	0	1	0	0	1099	1617	56	5	4592	5	ATG2B	14	96795934	Nonsense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	74898673	96795934	10553606	34	42057											
ACSBG1	23205	broad.mit.edu	37	chr15	78474344	78474344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggttcggcaaagcaaacctgGgccccccactggatgcctgt	8	7	12	14	1	0	0	0	0	0	0	1	1	0	1	5	4	3	3	5	4	2	1			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr15:78474344G>A	ENST00000258873.4	-	8	1243	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	ACSBG1_ENST00000541759.1_Silent_p.A104A|ACSBG1_ENST00000560817.1_Silent_p.A104A	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	346					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						AGCAAACCTGGGCCCCCCACT	0.627													A	78474344	G	A	78474344	2	1	424	1	0	0	0	0	0	0	0	1	173	1219	43	2		2	ACSBG1	15	78474344	Silent	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		78474344	24057048	35	42058											
NARFL	64428	broad.mit.edu	37	chr16	787302	787302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgtttagcgagaccttggCcttctccagcctccgggtcc	4	11	11	15	3	1	1	0	0	1	1	5	2	3	1	6	2	2	1	6	2	1	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:787302C>T	ENST00000251588.2	-	3	206	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	NARFL_ENST00000540986.1_5'UTR|NARFL_ENST00000301694.5_Missense_Mutation_p.A64T|NARFL_ENST00000568545.1_5'UTR	NM_022493.1	NP_071938.1	Q9H6Q4	NARFL_HUMAN	nuclear prelamin A recognition factor-like	64					iron-sulfur cluster assembly|oxygen homeostasis|regulation of transcription, DNA-dependent|response to hypoxia		4 iron, 4 sulfur cluster binding|metal ion binding			autonomic_ganglia(1)|large_intestine(1)|lung(7)	9		Hepatocellular(780;0.0218)				GAGACCTTGGCCTTCTCCAGC	0.627													T	787302	C	T	787302	3	4	424	1	0	0	0	0	1	0	0	0	10244	739	26	2	1276	2	NARFL	16	787302	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		787302	89567451	36	42059											
GTF3C1	2975	broad.mit.edu	37	chr16	27503732	27503733	+	Frame_Shift_Del	DEL	AT	AT	-																															tcctgcattgagttcaggacAtagaggcgcctctcgaaggg																										TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:27503732_27503733delAT	ENST00000356183.4	-	19	3092_3093	c.3077_3078delAT	c.(3076-3078)tatfs	p.Y1026fs	GTF3C1_ENST00000561623.1_Frame_Shift_Del_p.Y1026fs	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	1026						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						AGTTCAGGACATAGAGGCGCCT	0.54													-	27503733	AT	-	27503732	7	5	424	1	0	1	0	1	0	0	0	0	6927	224	8	0	3327	0	GTF3C1	16	27503732	Frame_Shift_Del	DEL	AT	TCGA-DU-A6S8-01A-12D-A32B-08	26716430	27503732	62851021	37	42060											
ABCC11	85320	broad.mit.edu	37	chr16	48221160	48221160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggctcccattaacaggAtatatggagacagcacactg	13	10	9	9	0	0	1	0	0	0	1	1	3	1	2	1	3	2	2	1	3	4	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr16:48221160A>G	ENST00000394747.1	-	20	3234	c.2885T>C	c.(2884-2886)aTc>aCc	p.I962T	ABCC11_ENST00000356608.2_Missense_Mutation_p.I962T|ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Missense_Mutation_p.I962T|ABCC11_ENST00000353782.5_Missense_Mutation_p.I962T|ABCC11_ENST00000537808.1_3'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	962	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CATTAACAGGATATATGGAGA	0.468													G	48221160	A	G	48221160	3	3	424	1	0	0	0	0	1	0	0	0	51	333	12	3	1303	3	ABCC11	16	48221160	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	20717428	48221160	42133593	38	42061											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840215	1840215	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtcccgtgcagttccggaAgtcctcggccctcagcagct	5	9	12	15	3	1	0	1	0	0	0	5	1	4	1	4	3	3	4	4	3	1	1			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr17:1840215A>G	ENST00000331238.6	-	2	1380	c.901T>C	c.(901-903)Ttc>Ctc	p.F301L		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1		LRRCT.				axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						CAGTTCCGGAAGTCCTCGGCC	0.682													G	1840215	A	G	1840215	3	3	424	1	0	0	0	0	1	0	0	0	13822	72	3	3	428	3	RTN4RL1	17	1840215	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08		1840215	79354995	39	42062											
NUFIP2	57532	broad.mit.edu	37	chr17	27614074	27614074	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggccgatcatcaaactttTtgctgctcacaccaggttta	9	13	8	11	1	3	0	3	0	0	0	3	1	3	0	2	2	3	3	2	2	2	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr17:27614074T>C	ENST00000225388.4	-	2	996	c.938A>G	c.(937-939)aAa>aGa	p.K313R	NUFIP2_ENST00000579665.1_Intron	NM_020772.2	NP_065823.1	Q7Z417	NUFP2_HUMAN	nuclear fragile X mental retardation protein interacting protein 2	313						nucleus|polysomal ribosome	protein binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	24			BRCA - Breast invasive adenocarcinoma(11;0.000457)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			ATCAAACTTTTTGCTGCTCAC	0.488													C	27614074	T	C	27614074	3	2	424	1	0	0	0	0	1	0	0	0	10825	1841	64	3	1161	3	NUFIP2	17	27614074	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	25773859	27614074	53581136	40	42063											
POTEC	388468	broad.mit.edu	37	chr18	14542921	14542921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccacgttgctcgtgccGctccccctgcagcaggggaa	5	7	13	16	3	0	0	0	0	0	0	2	1	1	1	4	2	5	5	4	2	1	1			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567													A	14542921	G	A	14542921	2	1	424	1	0	0	0	0	0	0	0	1	12339	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		14542921	63534327	41	42064											
DSG1	1828	broad.mit.edu	37	chr18	28916444	28916444	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttctgtgactgtgttaaAtgtaattgaaggcccagtgt	11	15	10	5	0	1	2	0	2	1	0	1	2	1	2	1	1	0	2	1	1	5	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:28916444A>G	ENST00000257192.4	+	9	1345	c.1133A>G	c.(1132-1134)aAt>aGt	p.N378S		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	378	Cadherin 3.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ACTGTGTTAAATGTAATTGAA	0.363													G	28916444	A	G	28916444	3	3	424	1	0	0	0	0	1	0	0	0	4815	101	4	3	1167	3	DSG1	18	28916444	Missense_Mutation	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	14373523	28916444	49160804	42	42065											
MYO5B	4645	broad.mit.edu	37	chr18	47367799	47367799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttggataaccagaatgacGtcatctcaaagtcatcattg	13	12	8	8	1	4	2	4	1	1	1	5	3	4	3	1	1	1	1	1	1	3	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr18:47367799G>A	ENST00000285039.7	-	35	4936	c.4637C>T	c.(4636-4638)aCg>aTg	p.T1546M	MYO5B_ENST00000592688.1_Missense_Mutation_p.T116M|MYO5B_ENST00000324581.6_Missense_Mutation_p.T661M|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		CCAGAATGACGTCATCTCAAA	0.522													A	47367799	G	A	47367799	3	1	424	1	0	0	0	0	1	0	0	0	10155	1145	40	1	933	1	MYO5B	18	47367799	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	18451355	47367799	30709449	43	42066											
NDUFA7	4701	broad.mit.edu	37	chr19	8381422	8381424	+	In_Frame_Del	DEL	ATG	ATG	-																															ccagcgccttctgcgacgacAtgatgatggaagggggcaca																										TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:8381422_8381424delATG	ENST00000301457.2	-	3	244_246	c.207_209delCAT	c.(205-210)atcatg>atg	p.I69del	NDUFA7_ENST00000598884.1_In_Frame_Del_p.I69del	NM_005001.3	NP_004992.2	O95182	NDUA7_HUMAN	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 7, 14.5kDa	69					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			NS(1)|central_nervous_system(1)|lung(2)|ovary(1)	5					NADH(DB00157)	CTGCGACGACATGATGATGGAAG	0.611													-	8381424	ATG	-	8381422	7	5	424	1	0	1	0	1	0	0	0	0	10346	217	8	0	140	0	NDUFA7	19	8381422	In_Frame_Del	DEL	ATG	TCGA-DU-A6S8-01A-12D-A32B-08		8381422	50747561	44	42067											
DNM2	1785	broad.mit.edu	37	chr19	10908075	10908075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggacggggctcttcacccccGacatggcctttgaagccatt	7	9	11	14	2	2	1	1	1	1	0	2	3	2	2	4	4	1	1	4	4	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:10908075G>A	ENST00000314646.5	+	10	1380	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	DNM2_ENST00000389253.4_Missense_Mutation_p.D406N|DNM2_ENST00000408974.4_Missense_Mutation_p.D406N|DNM2_ENST00000359692.6_Intron|DNM2_ENST00000355667.6_Intron|DNM2_ENST00000585892.1_Intron			P50570	DYN2_HUMAN	dynamin 2	406					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			CTTCACCCCCGACATGGCCTT	0.547			"F, N, Splice, Mis, O"		ETP ALL								A	10908075	G	A	10908075	3	1	424	1	0	0	0	0	1	0	0	0	4711	1058	37	1	1397	1	DNM2	19	10908075	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2526653	10908075	48220908	45	42068											
KLHL26	55295	broad.mit.edu	37	chr19	18775153	18775153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagggcctggccaccCtccgcgctcagggccagctc	4	6	12	19	2	1	0	1	0	0	0	4	0	3	0	6	3	2	3	6	3	0	0			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:18775153C>T	ENST00000300976.4	+	2	256	c.166C>T	c.(166-168)Ctc>Ttc	p.L56F	KLHL26_ENST00000596843.1_3'UTR|KLHL26_ENST00000595182.1_Missense_Mutation_p.L56F|KLHL26_ENST00000599006.1_Missense_Mutation_p.L56F	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	56										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCTGGCCACCCTCCGCGCTCA	0.637													T	18775153	C	T	18775153	3	4	424	1	0	0	0	0	1	0	0	0	8439	681	24	2	172	2	KLHL26	19	18775153	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	7867078	18775153	40353830	46	42069											
ZNF714	148206	broad.mit.edu	37	chr19	21300392	21300392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacataagataattcattctGgagagaaatcttacaaatgt	18	12	6	5	0	3	2	1	0	2	2	3	4	3	3	0	1	2	0	0	1	6	5			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:21300392G>A	ENST00000596143.1	+	5	1247	c.922G>A	c.(922-924)Gga>Aga	p.G308R	ZNF714_ENST00000596053.1_Intron|ZNF714_ENST00000291770.7_3'UTR|ZNF714_ENST00000601416.1_3'UTR	NM_182515.3	NP_872321	Q96N38	ZN714_HUMAN	zinc finger protein 714	309					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|urinary_tract(2)	18						AATTCATTCTGGAGAGAAATC	0.328													A	21300392	G	A	21300392	3	1	424	1	0	0	0	0	1	0	0	0	18219	1349	47	2	932	2	ZNF714	19	21300392	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2525239	21300392	37828591	47	42070											
ZNF99	7652	broad.mit.edu	37	chr19	22941745	22941745	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaagggctgagaaatggttAaaagctttgccacattcttc	12	12	9	8	0	1	1	0	1	1	1	2	2	1	1	1	2	2	3	1	2	4	5			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:22941745A>G	ENST00000397104.3	-	5	692	c.693T>C	c.(691-693)ttT>ttC	p.F231F	ZNF99_ENST00000596209.1_Silent_p.F322F					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AGAAATGGTTAAAAGCTTTGC	0.393													G	22941745	A	G	22941745	2	3	424	1	0	0	0	0	0	0	0	1	18303	359	13	3		3	ZNF99	19	22941745	Silent	SNP	A	TCGA-DU-A6S8-01A-12D-A32B-08	1641353	22941745	36187238	48	42071											
CLC	1178	broad.mit.edu	37	chr19	40225051	40225051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgaccacacgacgacCaaagcacacttggaaatgga	15	6	9	11	2	1	1	1	1	0	0	1	5	1	3	2	2	1	2	2	2	2	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:40225051C>A	ENST00000221804.4	-	3	250	c.175G>T	c.(175-177)Ggt>Tgt	p.G59C		NM_001828.5	NP_001819.2	Q05315	LPPL_HUMAN	Charcot-Leyden crystal galectin	59	Galectin.				lipid catabolic process|multicellular organismal development		carboxylesterase activity|lysophospholipase activity|sugar binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)|stomach(1)	12	all_cancers(60;2.99e-06)|all_lung(34;4.7e-08)|Lung NSC(34;5.46e-08)|Ovarian(47;0.06)	Renal(1328;0.000147)|Hepatocellular(1079;0.0202)|Myeloproliferative disorder(2;0.0255)	Epithelial(26;6.43e-25)|OV - Ovarian serous cystadenocarcinoma(5;1.07e-24)|all cancers(26;8.38e-23)	GBM - Glioblastoma multiforme(1328;4.97e-06)|STAD - Stomach adenocarcinoma(1328;0.00655)		ACACGACGACCAAAGCACACT	0.493													A	40225051	C	A	40225051	3	1	424	1	0	0	0	0	1	0	0	0	3487	594	21	4	261	4	CLC	19	40225051	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	17283306	40225051	18903932	49	42072											
CIC	23152	broad.mit.edu	37	chr19	42791818	42791818	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaccgtcagcaagatcctggGcgagtggtggtatgccctgg	7	8	16	10	2	1	1	1	0	0	1	2	3	2	1	3	4	2	2	3	4	2	1			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:42791818G>A	ENST00000572681.2	+	6	3499	c.3431G>A	c.(3430-3432)gGc>gAc	p.G1144D	CIC_ENST00000160740.3_Missense_Mutation_p.G235D|CIC_ENST00000575354.2_Missense_Mutation_p.G235D			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	235	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGATCCTGGGCGAGTGGTGG	0.612			"Mis, F, S"		oligodendroglioma								A	42791818	G	A	42791818	3	1	424	1	0	0	0	0	1	0	0	0	3454	1203	42	2	722	2	CIC	19	42791818	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2566767	42791818	16337165	50	42073											
NLRP13	126204	broad.mit.edu	37	chr19	56423307	56423307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggagagaggcactttcagCcttacctaactcttctcccc	8	12	7	14	0	3	1	1	0	2	1	4	3	3	2	4	2	3	1	4	2	2	5			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr19:56423307C>T	ENST00000588751.1	-	5	1900	c.1876G>A	c.(1876-1878)Gct>Act	p.A626T	NLRP13_ENST00000342929.3_Missense_Mutation_p.A626T			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	626							ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		GCACTTTCAGCCTTACCTAAC	0.403													T	56423307	C	T	56423307	3	4	424	1	0	0	0	0	1	0	0	0	10551	739	26	2	1281	2	NLRP13	19	56423307	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	13631489	56423307	2705676	51	42074											
NRSN2	80023	broad.mit.edu	37	chr20	333951	333951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctggagggcatcggtgaggGtgagttcctggtgttggatc	5	11	19	6	1	0	2	0	2	0	0	3	4	1	4	1	6	0	4	1	6	0	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:333951G>A	ENST00000382291.3	+	4	527	c.287G>A	c.(286-288)gGt>gAt	p.G96D	NRSN2_ENST00000492242.1_3'UTR|NRSN2_ENST00000382285.2_Missense_Mutation_p.G96D|NRSN2_ENST00000608736.1_Intron	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	96						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				ATCGGTGAGGGTGAGTTCCTG	0.647													A	333951	G	A	333951	3	1	424	1	0	0	0	0	1	0	0	0	10739	1261	44	2	293	2	NRSN2	20	333951	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08		333951	62691569	52	42075											
SEMG2	6407	broad.mit.edu	37	chr20	43851147	43851147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcatacccgtcttcaCgtacagaagaaagacaactt	17	9	5	10	2	3	3	2	0	1	3	3	3	3	3	1	0	3	1	1	0	7	5	rs140069155		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:43851147C>T	ENST00000372769.3	+	2	964	c.874C>T	c.(874-876)Cgt>Tgt	p.R292C		NM_003008.2	NP_002999.1	Q02383	SEMG2_HUMAN	semenogelin II	292	4 X 60 AA tandem repeats, type I.|Repeat-rich region.				sexual reproduction	extracellular space|stored secretory granule	structural molecule activity	p.R292S(1)		autonomic_ganglia(1)|breast(3)|endometrium(6)|kidney(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	36		Myeloproliferative disorder(115;0.0122)				CCCGTCTTCACGTACAGAAGA	0.393													T	43851147	C	T	43851147	3	4	424	1	0	0	0	0	1	0	0	0	14138	536	19	1	880	1	SEMG2	20	43851147	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	43517196	43851147	19174373	53	42076											
SLC35C2	51006	broad.mit.edu	37	chr20	44979079	44979079	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcctcctcctcattgtcaCcttcctcccgctggctgctc	3	13	5	20	1	2	0	2	0	0	0	8	0	7	0	6	1	1	3	6	1	0	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:44979079C>G	ENST00000372227.1	-	10	1592	c.1052G>C	c.(1051-1053)gGt>gCt	p.G351A	SLC35C2_ENST00000493599.1_5'UTR|SLC35C2_ENST00000372230.5_Missense_Mutation_p.G351A|SLC35C2_ENST00000372229.1_Missense_Mutation_p.G218A|SLC35C2_ENST00000243896.2_Missense_Mutation_p.G351A|SLC35C2_ENST00000317734.8_Missense_Mutation_p.G330A|SLC35C2_ENST00000543605.1_Missense_Mutation_p.G380A	NM_001281458.1|NM_001281460.1	NP_001268387.1|NP_001268389.1	Q9NQQ7	S35C2_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C2	351					transport	integral to membrane				cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	16		Myeloproliferative disorder(115;0.0122)				CTCATTGTCACCTTCCTCCCG	0.642													G	44979079	C	G	44979079	3	3	424	1	0	0	0	0	1	0	0	0	14674	507	18	4	49	4	SLC35C2	20	44979079	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	1127932	44979079	18046441	54	42077											
SLC17A9	63910	broad.mit.edu	37	chr20	61594021	61594021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgctcctggaatggtaCggctggcagagcatcttcta	7	11	11	12	1	2	1	0	0	2	1	4	2	4	2	2	4	3	5	2	4	3	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr20:61594021C>T	ENST00000370349.3	+	6	729	c.525C>T	c.(523-525)taC>taT	p.Y175Y	SLC17A9_ENST00000488738.1_3'UTR|SLC17A9_ENST00000370351.4_Silent_p.Y181Y			Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	181					exocytosis|transmembrane transport	integral to membrane	transporter activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						TGGAATGGTACGGCTGGCAGA	0.637													T	61594021	C	T	61594021	2	4	424	1	0	0	0	0	0	0	0	1	14518	547	19	1		1	SLC17A9	20	61594021	Silent	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	16614942	61594021	1431499	55	42078											
ICOSLG	23308	broad.mit.edu	37	chr21	45658330	45658330	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaagcaccccctgaacttaCcagctcgaaggctgctgaag	12	6	9	14	1	0	2	0	2	0	0	1	3	0	2	3	1	5	4	3	1	5	1			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr21:45658330C>T	ENST00000407780.3	-	2	183		c.e2+1		ICOSLG_ENST00000400377.3_Splice_Site|ICOSLG_ENST00000400379.3_Splice_Site|ICOSLG_ENST00000344330.4_Splice_Site	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand						B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCTGAACTTACCAGCTCGAAG	0.612													T	45658330	C	T	45658330	5	4	424	1	0	0	0	0	0	0	1	0	7545	521	18	2	876	2	ICOSLG	21	45658330	Splice_Site	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		45658330	2471565	56	42079											
PKDREJ	10343	broad.mit.edu	37	chr22	46657680	46657680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagataagcaccattccttcCtgttacagtttcccccatcc	9	12	4	16	0	0	1	0	0	0	1	4	1	4	1	6	0	2	3	6	0	2	5			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chr22:46657680C>T	ENST00000253255.5	-	1	1539	c.1540G>A	c.(1540-1542)Gga>Aga	p.G514R		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	514	REJ.				acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		CCATTCCTTCCTGTTACAGTT	0.388													T	46657680	C	T	46657680	3	4	424	1	0	0	0	0	1	0	0	0	12047	690	24	2	5225	2	PKDREJ	22	46657680	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		46657680	4646886	57	42080											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998106	27998106	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcacgacaaactcactcCgggggccatagaaattaaca	14	6	8	13	3	2	1	2	0	0	1	3	2	3	1	2	2	2	1	2	2	4	2	rs138650117		TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:27998106C>A	ENST00000441525.1	-	1	1460	c.1346G>T	c.(1345-1347)cGg>cTg	p.R449L		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	449								p.R449L(1)		NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						AAACTCACTCCGGGGGCCATA	0.463													A	27998106	C	A	27998106	3	1	424	1	0	0	0	0	1	0	0	0	4311	652	23	4	460	4	DCAF8L1	23	27998106	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08		27998106	127272454	58	42081											
NR0B1	190	broad.mit.edu	37	chrX	30327411	30327411	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagcctcaggagccgcgcGcgtttgcttcgcgctcataa	6	9	13	13	6	2	0	2	0	0	0	3	2	2	2	2	2	3	3	2	2	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:30327411G>A	ENST00000378970.4	-	1	304	c.70C>T	c.(70-72)Cgc>Tgc	p.R24C	NR0B1_ENST00000453287.1_Missense_Mutation_p.R24C	NM_000475.4	NP_000466.2	P51843	NR0B1_HUMAN	nuclear receptor subfamily 0, group B, member 1	24	4 X 67 AA tandem repeats.				adrenal gland development|hypothalamus development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of steroid hormone receptor signaling pathway|pituitary gland development|protein localization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|steroid biosynthetic process	cytoplasm|membrane fraction|nucleoplasm|nucleus|polysomal ribosome	AF-2 domain binding|DNA hairpin binding|ligand-regulated transcription factor activity|protein domain specific binding|protein homodimerization activity|RNA binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|steroid hormone receptor binding|transcription corepressor activity|transcription factor binding			central_nervous_system(2)|endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(2)	24					Dexamethasone(DB01234)|Tretinoin(DB00755)	GGAGCCGCGCGCGTTTGCTTC	0.692													A	30327411	G	A	30327411	3	1	424	1	0	0	0	0	1	0	0	0	10689	1087	38	1	1350	1	NR0B1	23	30327411	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	2329305	30327411	124943149	59	42082											
FAM47A	158724	broad.mit.edu	37	chrX	34149549	34149549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtcagttgtcttctcccGgccctcacaaggagcccgtg	5	11	10	15	3	4	0	2	0	2	0	6	1	4	1	3	2	1	1	3	2	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:34149549G>A	ENST00000346193.3	-	1	898	c.847C>T	c.(847-849)Cgg>Tgg	p.R283W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	283										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTCTTCTCCCGGCCCTCACAA	0.577													A	34149549	G	A	34149549	3	1	424	1	0	0	0	0	1	0	0	0	5620	1115	39	1	1532	1	FAM47A	23	34149549	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	3822138	34149549	121121011	60	42083											
CYLC1	1538	broad.mit.edu	37	chrX	83128413	83128413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtcaaagactagtaatgatCccatatcagagatttgctca	14	11	8	8	0	3	3	3	1	0	2	4	4	4	3	1	1	1	2	1	1	4	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:83128413C>T	ENST00000329312.4	+	4	734	c.697C>T	c.(697-699)Ccc>Tcc	p.P233S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	233					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TAGTAATGATCCCATATCAGA	0.328													T	83128413	C	T	83128413	3	4	424	1	0	0	0	0	1	0	0	0	4174	855	30	2	711	2	CYLC1	23	83128413	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	48978864	83128413	72142147	61	42084											
NXT2	55916	broad.mit.edu	37	chrX	108780167	108780167	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtattgatcattccgcagcCctgcggaccggacacgtgag	9	8	12	12	4	1	2	1	2	0	0	2	4	2	4	3	2	2	2	3	2	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:108780167C>T	ENST00000218004.1	+	2	199	c.97C>T	c.(97-99)Cct>Tct	p.P33S	NXT2_ENST00000372107.1_5'UTR|NXT2_ENST00000372106.1_5'UTR	NM_018698.4	NP_061168.2	Q9NPJ8	NXT2_HUMAN	nuclear transport factor 2-like export factor 2	0	NTF2.				mRNA transport|protein transport	cytoplasm|nucleus				endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	6						ATTCCGCAGCCCTGCGGACCG	0.572													T	108780167	C	T	108780167	5	4	424	1	0	0	0	0	0	0	1	0	10871	637	22	2	103	2	NXT2	23	108780167	Splice_Site	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	25651754	108780167	46490393	62	42085											
ACTRT1	139741	broad.mit.edu	37	chrX	127185637	127185637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgatgtccctccctgcCatacagagtttggtgactgc	6	13	10	12	0	1	3	0	2	1	1	3	3	3	3	3	1	3	1	3	1	1	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:127185637C>T	ENST00000371124.3	-	1	745	c.549G>A	c.(547-549)atG>atA	p.M183I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	183						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CCCTCCCTGCCATACAGAGTT	0.542													T	127185637	C	T	127185637	3	4	424	1	0	0	0	0	1	0	0	0	218	594	21	2	585	2	ACTRT1	23	127185637	Missense_Mutation	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	18405470	127185637	28084923	63	42086											
CXorf66	347487	broad.mit.edu	37	chrX	139038428	139038428	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattaaaatgtttgggaggcTtagccaattcctgtggaccg	10	12	12	7	1	0	0	0	0	0	0	1	3	1	2	3	3	1	2	3	3	4	4			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:139038428T>G	ENST00000370540.1	-	3	736	c.713A>C	c.(712-714)aAg>aCg	p.K238T		NM_001013403.2	NP_001013421.1	Q5JRM2	CX066_HUMAN	chromosome X open reading frame 66	238						integral to membrane				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(13)|skin(1)|stomach(1)	26						TTTGGGAGGCTTAGCCAATTC	0.438													G	139038428	T	G	139038428	3	3	424	1	0	0	0	0	1	0	0	0	4151	1609	56	5	376	5	CXorf66	23	139038428	Missense_Mutation	SNP	T	TCGA-DU-A6S8-01A-12D-A32B-08	11852791	139038428	16232132	64	42087											
IRAK1	3654	broad.mit.edu	37	chrX	153284093	153284093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccgtgttcctcatcaccGcccggtacacgcacccaaag	10	6	7	18	4	2	0	2	0	0	0	3	0	3	0	5	1	1	3	5	1	2	2			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:153284093G>A	ENST00000369980.3	-	5	853	c.686C>T	c.(685-687)gCg>gTg	p.A229V	IRAK1_ENST00000369974.2_Missense_Mutation_p.A229V|IRAK1_ENST00000393687.2_Missense_Mutation_p.A229V|IRAK1_ENST00000393682.1_Missense_Mutation_p.A255V|IRAK1_ENST00000429936.2_Missense_Mutation_p.A255V|IRAK1_ENST00000477274.1_5'UTR	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	229	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTCATCACCGCCCGGTACAC	0.592													A	153284093	G	A	153284093	3	1	424	1	0	0	0	0	1	0	0	0	7879	1087	38	1	1492	1	IRAK1	23	153284093	Missense_Mutation	SNP	G	TCGA-DU-A6S8-01A-12D-A32B-08	14245665	153284093	1986467	65	42088											
OPN1LW	5956	broad.mit.edu	37	chrX	153418564	153418564	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgtggacagccccgccCatctttggttggagcaggta	6	10	14	11	1	1	0	0	0	1	0	1	2	1	2	3	4	2	4	3	4	1	3			TCGA-DU-A6S8-01A-12D-A32B-08	TCGA-DU-A6S8-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c643556f-5d54-4821-b2c1-af7b5ff789d6	e33db528-eb1b-4812-9956-03280bb3bd0c	g.chrX:153418564C>T	ENST00000369951.4	+	3	621	c.561C>T	c.(559-561)ccC>ccT	p.P187P	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	187					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGCCCCGCCCATCTTTGGTT	0.567													T	153418564	C	T	153418564	2	4	424	1	0	0	0	0	0	0	0	1	10953	581	21	2		2	OPN1LW	23	153418564	Silent	SNP	C	TCGA-DU-A6S8-01A-12D-A32B-08	134471	153418564	1851996	66	42089											
PEX14	5195	broad.mit.edu	37	chr1	10689808	10689808	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgggcccccaggaggaaggcGagggggtggtggacgtcaag	8	4	21	8	2	1	0	1	0	0	0	1	4	1	3	2	8	0	0	2	8	2	0			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:10689808G>C	ENST00000356607.4	+	9	978	c.898G>C	c.(898-900)Gag>Cag	p.E300Q	PEX14_ENST00000538836.1_Missense_Mutation_p.E236Q	NM_004565.2	NP_004556.1	O75381	PEX14_HUMAN	peroxisomal biogenesis factor 14	300					negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|protein homooligomerization|protein import into peroxisome matrix|transmembrane transport	integral to membrane|nucleus|peroxisomal membrane|protein complex	protein N-terminus binding|transcription corepressor activity			breast(3)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)	13	Ovarian(185;0.203)	all_lung(284;6.02e-06)|Lung NSC(185;9.62e-06)|Renal(390;0.000147)|Breast(348;0.000932)|Colorectal(325;0.00215)|Hepatocellular(190;0.00913)|Ovarian(437;0.023)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0292)|Colorectal(212;9.13e-08)|COAD - Colon adenocarcinoma(227;2.07e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000482)|Kidney(185;0.00174)|KIRC - Kidney renal clear cell carcinoma(229;0.00457)|STAD - Stomach adenocarcinoma(132;0.0249)|READ - Rectum adenocarcinoma(331;0.0419)		GGAGGAAGGCGAGGGGGTGGT	0.652													C	10689808	G	C	10689808	3	2	425	1	0	0	0	0	1	0	0	0	11819	1059	37	4	932	4	PEX14	1	10689808	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		10689808	238560813	1	42090											
PRMT6	55170	broad.mit.edu	37	chr1	107599766	107599766	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggaccagtggagactgtAgagttgccggaacaggtgga	10	6	17	8	2	0	2	0	0	0	2	0	6	0	5	3	5	2	2	3	5	2	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:107599766A>G	ENST00000361318.5	+	1	500	c.252A>G	c.(250-252)gtA>gtG	p.V84V	PRMT6_ENST00000370078.1_Silent_p.V143V	NM_018137.2	NP_060607.2	Q96LA8	ANM6_HUMAN	protein arginine methyltransferase 6	143					base-excision repair|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone binding|histone methyltransferase activity (H2A-R3 specific)|histone methyltransferase activity (H3-R2 specific)|histone methyltransferase activity (H4-R3 specific)|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			biliary_tract(1)|breast(2)|kidney(1)|large_intestine(4)|lung(5)|urinary_tract(1)	14		all_epithelial(167;0.000429)|all_lung(203;0.00122)|Lung NSC(277;0.00185)		Lung(183;0.0305)|Epithelial(280;0.0765)|Colorectal(144;0.0998)|all cancers(265;0.14)|LUSC - Lung squamous cell carcinoma(189;0.173)|BRCA - Breast invasive adenocarcinoma(282;0.242)		TGGAGACTGTAGAGTTGCCGG	0.652													G	107599766	A	G	107599766	2	3	425	1	0	0	0	0	0	0	0	1	12626	407	15	3		3	PRMT6	1	107599766	Silent	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08	96909958	107599766	141650855	2	42091											
AMPD1	270	broad.mit.edu	37	chr1	115231293	115231293	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagggggaaatctcctgaCgacctccttcatctttgact	10	11	8	12	1	3	2	1	2	2	0	5	4	4	3	3	2	0	0	3	2	2	2	rs147972392		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:115231293C>T	ENST00000369538.3	-	2	238	c.191G>A	c.(190-192)cGt>cAt	p.R64H	AMPD1_ENST00000353928.6_Missense_Mutation_p.R35H|AMPD1_ENST00000520113.2_Missense_Mutation_p.R68H	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	35					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	AATCTCCTGACGACCTCCTTC	0.423													T	115231293	C	T	115231293	3	4	425	1	0	0	0	0	1	0	0	0	585	536	19	1	2195	1	AMPD1	1	115231293	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	7631527	115231293	134019328	3	42092											
SELE	6401	broad.mit.edu	37	chr1	169702103	169702103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatagcttccgtggaggtgTtgtaagaccaggctccactc	8	11	11	11	1	1	1	1	0	0	1	4	2	3	2	3	3	1	4	3	3	2	4			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr1:169702103T>C	ENST00000333360.7	-	3	213	c.74A>G	c.(73-75)aAc>aGc	p.N25S	SELE_ENST00000367782.4_Missense_Mutation_p.N25S|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367780.4_Missense_Mutation_p.N25S|SELE_ENST00000367776.1_Missense_Mutation_p.N25S|SELE_ENST00000367775.1_Missense_Mutation_p.N25S|SELE_ENST00000367774.1_Missense_Mutation_p.N25S|SELE_ENST00000367781.4_Missense_Mutation_p.N25S|SELE_ENST00000367777.1_Missense_Mutation_p.N25S|SELE_ENST00000367779.4_Missense_Mutation_p.N25S	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	25	C-type lectin.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					CGTGGAGGTGTTGTAAGACCA	0.418													C	169702103	T	C	169702103	3	2	425	1	0	0	0	0	1	0	0	0	14106	1725	60	3	1802	3	SELE	1	169702103	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	54470810	169702103	79548518	4	42093											
RNF103	7844	broad.mit.edu	37	chr2	86831482	86831482	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagacatttaaatcgccaCattggtaagtttttaatata	15	14	5	7	1	0	1	0	0	0	1	1	1	0	1	2	1	0	2	2	1	7	9			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr2:86831482C>A	ENST00000237455.4	-	4	2510	c.1542G>T	c.(1540-1542)atG>atT	p.M514I	AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	514					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						TAAATCGCCACATTGGTAAGT	0.433													A	86831482	C	A	86831482	3	1	425	1	0	0	0	0	1	0	0	0	13514	478	17	4	519	4	RNF103	2	86831482	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		86831482	156367891	5	42094											
DNAH12	201625	broad.mit.edu	37	chr3	57528508	57528509	+	Frame_Shift_Del	DEL	TA	TA	-																															tgtgttggtgtatcaacgccTatgttttctgggagatggac																								rs116066702	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:57528508_57528509delTA	ENST00000351747.2	-	2	269_270	c.89_90delTA	c.(88-90)atafs	p.I30fs	DNAH12_ENST00000311202.6_Frame_Shift_Del_p.I30fs|DNAH12_ENST00000389536.4_Frame_Shift_Del_p.I30fs	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	30	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TATCAACGCCTATGTTTTCTGG	0.416													-	57528509	TA	-	57528508	7	5	425	1	0	1	0	1	0	0	0	0	4639	1512	53	0	9463	0	DNAH12	3	57528508	Frame_Shift_Del	DEL	TA	TCGA-DU-A76K-01A-11D-A33T-08		57528508	140493922	6	42095											
ECE2	9718	broad.mit.edu	37	chr3	184008969	184008969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggctcaacggccgccagaCgctgggggagaacattgctg	9	5	16	11	3	1	2	1	0	0	2	1	4	1	2	2	4	3	3	2	4	2	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:184008969C>T	ENST00000402825.3	+	17	2330	c.2330C>T	c.(2329-2331)aCg>aTg	p.T777M	ECE2_ENST00000357474.5_Missense_Mutation_p.T705M|ECE2_ENST00000359140.4_Missense_Mutation_p.T630M|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.T659M	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	777	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GGCCGCCAGACGCTGGGGGAG	0.622													T	184008969	C	T	184008969	3	4	425	1	0	0	0	0	1	0	0	0	4929	536	19	1	2960	1	ECE2	3	184008969	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	126480461	184008969	14013461	7	42096											
RTP1	132112	broad.mit.edu	37	chr3	186917604	186917604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcatccacgtggccagcCgccaggacaaccggcggcac	9	2	12	18	5	0	0	0	0	0	0	1	1	1	1	6	4	2	2	6	4	1	0			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr3:186917604C>T	ENST00000312295.4	+	2	568	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	180					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		CGTGGCCAGCCGCCAGGACAA	0.682													T	186917604	C	T	186917604	3	4	425	1	0	0	0	0	1	0	0	0	13824	652	23	1	544	1	RTP1	3	186917604	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	2908635	186917604	11104826	8	42097											
RAB28	9364	broad.mit.edu	37	chr4	13378229	13378229	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatttcagcagcaactttCtgaaagcacaggaagaccta	15	8	9	9	0	2	2	1	1	1	1	2	4	2	4	1	2	4	3	1	2	4	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:13378229C>G	ENST00000288723.4	-	6	727	c.513G>C	c.(511-513)caG>caC	p.Q171H	RAB28_ENST00000338176.4_Missense_Mutation_p.Q171H|RAB28_ENST00000330852.5_Missense_Mutation_p.Q171H	NM_004249.3	NP_004240.2	P51157	RAB28_HUMAN	RAB28, member RAS oncogene family	171					small GTPase mediated signal transduction	plasma membrane	GDP binding|GTP binding|GTPase activity			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	8						CAGCAACTTTCTGAAAGCACA	0.289													G	13378229	C	G	13378229	3	3	425	1	0	0	0	0	1	0	0	0	13004	912	32	4	300	4	RAB28	4	13378229	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		13378229	177776047	9	42098											
TSPAN5	10098	broad.mit.edu	37	chr4	99399849	99399849	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttactgcgggatctttaGtgcagcaggagaatggaacg	11	9	13	8	2	1	1	0	0	1	1	1	4	1	3	0	3	5	2	0	3	4	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr4:99399849G>C	ENST00000305798.3	-	5	965	c.563C>G	c.(562-564)aCt>aGt	p.T188S	TSPAN5_ENST00000505184.1_Missense_Mutation_p.T117S	NM_005723.3	NP_005714.2	P62079	TSN5_HUMAN	tetraspanin 5	188						integral to membrane				kidney(2)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(123;1.89e-07)		GGGATCTTTAGTGCAGCAGGA	0.468													C	99399849	G	C	99399849	3	2	425	1	0	0	0	0	1	0	0	0	16751	1029	36	4	259	4	TSPAN5	4	99399849	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	86021620	99399849	91754427	10	42099											
LECT2	3950	broad.mit.edu	37	chr5	135288604	135288604	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatggcggtcacacgtccgGatctcattggaagacttgcc	8	9	11	13	3	2	1	2	0	1	1	4	3	3	3	3	4	1	0	3	4	1	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:135288604G>A	ENST00000274507.1	-	2	299	c.99C>T	c.(97-99)atC>atT	p.I33I	LECT2_ENST00000514447.2_Silent_p.I33I|LECT2_ENST00000522943.1_Silent_p.I33I|LECT2_ENST00000512872.1_5'UTR|LECT2_ENST00000471827.1_5'UTR	NM_002302.2	NP_002293.2	O14960	LECT2_HUMAN	leukocyte cell-derived chemotaxin 2	33					chemotaxis|skeletal system development	cytoplasm|extracellular space				large_intestine(1)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CACACGTCCGGATCTCATTGG	0.512													A	135288604	G	A	135288604	2	1	425	1	0	0	0	0	0	0	0	1	8772	1164	41	2		2	LECT2	5	135288604	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		135288604	45626656	11	42100											
SLU7	10569	broad.mit.edu	37	chr5	159831523	159831525	+	In_Frame_Del	DEL	TTC	TTC	-																															gatgcttcttctttttctttTtcttcttcttcttttcctct																										TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr5:159831523_159831525delTTC	ENST00000297151.4	-	15	1890_1892	c.1503_1505delGAA	c.(1501-1506)aagaaa>aaa	p.501_502KK>K		NM_006425.4	NP_006416.3	O95391	SLU7_HUMAN	SLU7 splicing factor homolog (S. cerevisiae)	501					alternative nuclear mRNA splicing, via spliceosome|nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|cytoplasm|nuclear speck|small nuclear ribonucleoprotein complex	pre-mRNA 3'-splice site binding|second spliceosomal transesterification activity|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(4)|lung(6)|ovary(1)	20	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ctttttctttttcttcttcttct	0.335													-	159831525	TTC	-	159831523	7	5	425	1	0	1	0	1	0	0	0	0	14849	1841	64	0	263	0	SLU7	5	159831523	In_Frame_Del	DEL	TTC	TCGA-DU-A76K-01A-11D-A33T-08	24542919	159831523	21083737	12	42101											
PRSS16	10279	broad.mit.edu	37	chr6	27222836	27222836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcaactcttcttatcCgcactggctcccactgcttg	8	12	6	15	1	3	1	1	0	2	1	5	1	5	1	2	1	2	3	2	1	3	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:27222836C>T	ENST00000230582.3	+	11	1417	c.1402C>T	c.(1402-1404)Cgc>Tgc	p.R468C	PRSS16_ENST00000377456.2_3'UTR|PRSS16_ENST00000421826.2_Missense_Mutation_p.R211C	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	468					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						TCTTCTTATCCGCACTGGCTC	0.547													T	27222836	C	T	27222836	3	4	425	1	0	0	0	0	1	0	0	0	12701	652	23	1	1444	1	PRSS16	6	27222836	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		27222836	143892231	13	42102											
HLA-DMB	3109	broad.mit.edu	37	chr6	32908535	32908535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagtgtccttacctgctCctgtgcagcccaggctgagc	8	9	11	13	0	0	2	0	1	0	1	2	2	2	2	4	1	5	3	4	1	3	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr6:32908535C>A	ENST00000416244.2	-	1	244	c.50G>T	c.(49-51)gGa>gTa	p.G17V	HLA-DMB_ENST00000418107.2_Missense_Mutation_p.G17V|XXbac-BPG181M17.5_ENST00000429234.1_Missense_Mutation_p.G49V			P28068	DMB_HUMAN	major histocompatibility complex, class II, DM beta	17					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				breast(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13						CTTACCTGCTCCTGTGCAGCC	0.557													A	32908535	C	A	32908535	3	1	425	1	0	0	0	0	1	0	0	0	7254	855	30	4	765	4	HLA-DMB	6	32908535	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	5685699	32908535	138206532	14	42103											
UBE2H	7328	broad.mit.edu	37	chr7	129474885	129474885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcgcctcctccgtggcGtatttctggatgtactctgc	4	14	10	13	3	3	0	1	0	2	0	5	1	5	1	3	2	3	2	3	2	2	4			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:129474885G>A	ENST00000355621.3	-	7	837	c.444C>T	c.(442-444)taC>taT	p.Y148Y	UBE2H_ENST00000473814.2_Silent_p.Y117Y	NM_001202498.1|NM_003344.3	NP_001189427.1|NP_003335.1	P62256	UBE2H_HUMAN	ubiquitin-conjugating enzyme E2H	148					protein K11-linked ubiquitination|protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process		ATP binding|ubiquitin-protein ligase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|skin(1)	10	Melanoma(18;0.0435)					CCTCCGTGGCGTATTTCTGGA	0.567													A	129474885	G	A	129474885	2	1	425	1	0	0	0	0	0	0	0	1	16960	1140	40	1		1	UBE2H	7	129474885	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		129474885	29663778	15	42104											
KIAA1549	57670	broad.mit.edu	37	chr7	138589815	138589815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgagataagttgagctgtGgatactggaaggctacaaaa	15	9	12	5	0	0	2	0	2	0	1	0	5	0	4	0	3	3	3	0	3	6	4			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:138589815G>A	ENST00000440172.1	-	7	3521	c.3473C>T	c.(3472-3474)cCa>cTa	p.P1158L	KIAA1549_ENST00000422774.1_Missense_Mutation_p.P1158L|KIAA1549_ENST00000242365.4_Missense_Mutation_p.P1108L	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	1158						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						GTTGAGCTGTGGATACTGGAA	0.383			O	BRAF	pilocytic astrocytoma								A	138589815	G	A	138589815	3	1	425	1	0	0	0	0	1	0	0	0	8302	1348	47	2	2435	2	KIAA1549	7	138589815	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	9114930	138589815	20548848	16	42105											
EPHB6	2051	broad.mit.edu	37	chr7	142561851	142561851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacactttgtggagcggcGcggggcccagagggcgcaca	8	4	17	12	4	0	1	0	0	0	1	0	3	0	2	1	5	1	1	1	5	0	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142561851G>A	ENST00000392957.2	+	7	1080	c.293G>A	c.(292-294)cGc>cAc	p.R98H	EPHB6_ENST00000442129.1_Missense_Mutation_p.R98H|EPHB6_ENST00000411471.2_Intron	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	98						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GTGGAGCGGCGCGGGGCCCAG	0.652													A	142561851	G	A	142561851	3	1	425	1	0	0	0	0	1	0	0	0	5219	1087	38	1	303	1	EPHB6	7	142561851	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	3972036	142561851	16576812	17	42106											
OR9A2	135924	broad.mit.edu	37	chr7	142723328	142723328	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtttcatcccatctcGgagggcctctttgactttgt	5	14	10	12	2	3	1	1	1	2	0	5	2	4	2	2	2	1	2	2	2	0	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr7:142723328G>A	ENST00000350513.2	-	1	954	c.892C>T	c.(892-894)Cga>Tga	p.R298*		NM_001001658.1	NP_001001658.1	Q8NGT5	OR9A2_HUMAN	olfactory receptor, family 9, subfamily A, member 2	298					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R298G(1)		central_nervous_system(3)|endometrium(4)|large_intestine(1)|lung(14)|skin(3)	25	Melanoma(164;0.059)					ATCCCATCTCGGAGGGCCTCT	0.428													A	142723328	G	A	142723328	4	1	425	1	0	0	0	0	0	1	0	0	11324	1124	39	1	44	1	OR9A2	7	142723328	Nonsense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	161477	142723328	16415335	18	42107											
ST18	9705	broad.mit.edu	37	chr8	53092709	53092709	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtgaccatgtgtttccaAggggccatcgtcctctgtcc	7	11	11	12	1	1	2	0	1	1	1	5	2	4	2	5	2	0	1	5	2	1	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:53092709A>T	ENST00000276480.7	-	9	933	c.250T>A	c.(250-252)Ttg>Atg	p.L84M		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	84						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGTGTTTCCAAGGGGCCATCG	0.522													T	53092709	A	T	53092709	3	4	425	1	0	0	0	0	1	0	0	0	15308	69	3	5	2965	5	ST18	8	53092709	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08		53092709	93271313	19	42108											
MMP16	4325	broad.mit.edu	37	chr8	89068438	89068438	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagggggaattccacttcCaagggttatcaagtcatgag	12	10	12	7	0	2	2	2	2	0	0	4	3	4	3	2	3	0	1	2	3	4	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:89068438C>G	ENST00000286614.6	-	8	1572	c.1291G>C	c.(1291-1293)Gga>Cga	p.G431R		NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	431	Hemopexin-like 2.				collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						ATTCCACTTCCAAGGGTTATC	0.413													G	89068438	C	G	89068438	3	3	425	1	0	0	0	0	1	0	0	0	9730	603	21	4	544	4	MMP16	8	89068438	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	35975729	89068438	57295584	20	42109											
TNFRSF11B	4982	broad.mit.edu	37	chr8	119945527	119945527	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggtccacttaatggAgatgtccagaaactagaagg	12	9	13	7	0	0	3	0	0	0	3	2	4	2	3	2	4	1	0	2	4	4	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:119945527A>C	ENST00000297350.4	-	2	421	c.43T>G	c.(43-45)Tcc>Gcc	p.S15A		NM_002546.3	NP_002537.3	O00300	TR11B_HUMAN	tumor necrosis factor receptor superfamily, member 11b	15					apoptosis|skeletal system development		cytokine activity|receptor activity			breast(1)|central_nervous_system(3)|endometrium(4)|large_intestine(6)|lung(7)|prostate(3)|skin(1)	25	all_cancers(13;3.71e-26)|Lung NSC(37;1.69e-07)|Ovarian(258;0.018)|all_neural(195;0.0592)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00193)			CACTTAATGGAGATGTCCAGA	0.423													C	119945527	A	C	119945527	3	2	425	1	0	0	0	0	1	0	0	0	16385	304	11	5	1178	5	TNFRSF11B	8	119945527	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08	30877089	119945527	26418495	21	42110											
FER1L6	654463	broad.mit.edu	37	chr8	125035786	125035786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcctctattcccctgtcGcggggcagatgggcaaacac	8	8	10	15	2	1	1	0	0	1	1	4	1	3	1	4	3	1	2	4	3	2	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr8:125035786G>A	ENST00000522917.1	+	18	2442	c.2236G>A	c.(2236-2238)Gcg>Acg	p.A746T	FER1L6_ENST00000399018.1_Missense_Mutation_p.A746T|FER1L6-AS1_ENST00000518567.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	746						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTCCCCTGTCGCGGGGCAGAT	0.493													A	125035786	G	A	125035786	3	1	425	1	0	0	0	0	1	0	0	0	5864	1087	38	1	2302	1	FER1L6	8	125035786	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	5090259	125035786	21328236	22	42111											
USP20	10868	broad.mit.edu	37	chr9	132642504	132642504	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagccgctgggcccagaGaacctgcacggggagcagaa	10	2	16	13	3	0	2	0	0	0	2	0	4	0	3	3	3	4	4	3	3	2	0			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr9:132642504G>T	ENST00000315480.4	+	25	2855	c.2697G>T	c.(2695-2697)gaG>gaT	p.E899D	USP20_ENST00000358355.1_Missense_Mutation_p.E899D|USP20_ENST00000372429.3_Missense_Mutation_p.E899D|USP20_ENST00000472108.1_3'UTR			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	899					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGGGCCCAGAGAACCTGCACG	0.642													T	132642504	G	T	132642504	3	4	425	1	0	0	0	0	1	0	0	0	17154	933	33	4	2787	4	USP20	9	132642504	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		132642504	8570927	23	42112											
BMI1	648	broad.mit.edu	37	chr10	22616921	22616925	+	Frame_Shift_Del	DEL	AAGAT	AAGAT	-																															tagaggagaggttgcagatgAagataagagaattataactg																										TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:22616921_22616925delAAGAT	ENST00000376663.3	+	6	864_868	c.359_363delAAGAT	c.(358-363)gaagatfs	p.ED120fs	COMMD3-BMI1_ENST00000602390.1_Frame_Shift_Del_p.ED263fs	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						GTTGCAGATGAAGATAAGAGAATTA	0.288													-	22616925	AAGAT	-	22616921	7	5	425	1	0	1	0	1	0	0	0	0	1461	246	9	0	377	0	BMI1	10	22616921	Frame_Shift_Del	DEL	AAGAT	TCGA-DU-A76K-01A-11D-A33T-08		22616921	112917826	24	42113											
MYPN	84665	broad.mit.edu	37	chr10	69882079	69882079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggattgcatagtggtaggaaTtccaccacctcaagtaaggt	12	10	11	8	0	1	0	1	0	0	0	2	2	2	2	3	4	1	3	3	4	5	5			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:69882079T>C	ENST00000358913.5	+	2	1372	c.884T>C	c.(883-885)aTt>aCt	p.I295T	MYPN_ENST00000373675.3_Missense_Mutation_p.I295T|MYPN_ENST00000354393.2_Intron|MYPN_ENST00000540630.1_Missense_Mutation_p.I295T	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	295	Ig-like 1.|Interaction with CARP.					nucleus|sarcomere	actin binding			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GTGGTAGGAATTCCACCACCT	0.453													C	69882079	T	C	69882079	3	2	425	1	0	0	0	0	1	0	0	0	10174	1493	52	3	886	3	MYPN	10	69882079	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	47265158	69882079	65652668	25	42114											
CDH23	64072	broad.mit.edu	37	chr10	73563115	73563115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtggaggtcatcgacGtcaatgacaaccgccctgtc	8	9	11	13	3	2	1	2	1	0	0	5	3	3	2	3	3	1	0	3	3	2	0			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:73563115G>A	ENST00000224721.6	+	54	7830	c.7825G>A	c.(7825-7827)Gtc>Atc	p.V2609I	CDH23_ENST00000398788.3_Missense_Mutation_p.V364I|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2604	Cadherin 24.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GGTCATCGACGTCAATGACAA	0.607													A	73563115	G	A	73563115	3	1	425	1	0	0	0	0	1	0	0	0	3138	1145	40	1	8369	1	CDH23	10	73563115	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	3681036	73563115	61971632	26	42115											
SEMA4G	57715	broad.mit.edu	37	chr10	102743064	102743066	+	In_Frame_Del	DEL	CCA	CCA	-																															ctcccccaaaccccacagggCcaccaccaccactgaagacc																										TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr10:102743064_102743066delCCA	ENST00000210633.3	+	14	1786_1788	c.1708_1710delCCA	c.(1708-1710)ccadel	p.P573del	MRPL43_ENST00000370241.3_Intron|MRPL43_ENST00000370242.4_Intron|RP11-108L7.4_ENST00000447344.1_RNA|SEMA4G_ENST00000517724.1_Intron|MRPL43_ENST00000342071.1_Intron|MRPL43_ENST00000299179.5_Intron|MRPL43_ENST00000318325.2_Intron|SEMA4G_ENST00000370250.4_In_Frame_Del_p.P568del			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	568	Ig-like C2-type.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		CCCCACAGGGCCACCACCACCAC	0.616													-	102743066	CCA	-	102743064	7	5	425	1	0	1	0	1	0	0	0	0	14129	739	26	0	1762	0	SEMA4G	10	102743064	In_Frame_Del	DEL	CCA	TCGA-DU-A76K-01A-11D-A33T-08	29179949	102743064	32791683	27	42116											
TAF10	6881	broad.mit.edu	37	chr11	6633269	6633269	+	Frame_Shift_Del	DEL	C	C	-																															cagctgctccagccccaggtCcccccgctgtccccgcgggg																										TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:6633269delC	ENST00000299424.4	-	1	629	c.152delG	c.(151-153)ggafs	p.G51fs	TAF10_ENST00000531760.1_Intron	NM_006284.3	NP_006275.1	Q12962	TAF10_HUMAN	TAF10 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 30kDa	51					histone deubiquitination|histone H3 acetylation|protein homooligomerization|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	PCAF complex|perinuclear region of cytoplasm|STAGA complex|transcription factor TFIID complex|transcription factor TFTC complex	estrogen receptor binding|RNA polymerase binding|transcription coactivator activity						Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.0481)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.129)		AGCCCCAGGTCCCCCCGCTGT	0.816													-	6633269	C	-	6633269	7	5	425	1	0	1	0	1	0	0	0	0	15611	855	30	0	524	0	TAF10	11	6633269	Frame_Shift_Del	DEL	C	TCGA-DU-A76K-01A-11D-A33T-08		6633269	128373247	28	42117											
TCN1	6947	broad.mit.edu	37	chr11	59620692	59620692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttggctcagtggttcGcctccactcagaagttccca	7	12	8	14	1	2	1	2	0	0	1	5	1	4	1	4	2	1	3	4	2	2	4			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:59620692G>A	ENST00000257264.3	-	8	1328	c.1224C>T	c.(1222-1224)ggC>ggT	p.G408G		NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	408					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCAGTGGTTCGCCTCCACTCA	0.522													A	59620692	G	A	59620692	2	1	425	1	0	0	0	0	0	0	0	1	15806	1074	38	1		1	TCN1	11	59620692	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	52987423	59620692	75385824	29	42118											
ADAMTS8	11095	broad.mit.edu	37	chr11	130275913	130275913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtactgcccatcagccGtcttcagcgccaggtagttc	7	9	11	14	2	3	0	2	0	1	0	4	0	3	0	3	2	4	4	3	2	2	4			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr11:130275913G>A	ENST00000257359.6	-	9	2916	c.2210C>T	c.(2209-2211)aCg>aTg	p.T737M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	737	Spacer.				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		CCCATCAGCCGTCTTCAGCGC	0.567													A	130275913	G	A	130275913	3	1	425	1	0	0	0	0	1	0	0	0	272	1145	40	1	463	1	ADAMTS8	11	130275913	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	70655221	130275913	4730603	30	42119											
RASAL1	8437	broad.mit.edu	37	chr12	113552605	113552605	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctcaggctttgctcacCgggtgcggcccaggtccatc	4	9	13	15	2	2	0	2	0	0	0	5	0	4	0	4	5	2	2	4	5	0	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:113552605C>T	ENST00000546530.1	-	13	1466	c.1181G>A	c.(1180-1182)cGg>cAg	p.R394Q	RASAL1_ENST00000548055.1_Splice_Site_p.R394Q|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000261729.5_Splice_Site_p.R394Q|RASAL1_ENST00000446861.3_Splice_Site_p.R394Q	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	394	Ras-GAP.				intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CTTTGCTCACCGGGTGCGGCC	0.622													T	113552605	C	T	113552605	5	4	425	1	0	0	0	0	0	0	1	0	13151	666	23	1	1273	1	RASAL1	12	113552605	Splice_Site	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		113552605	20299290	31	42120											
HNF1A	6927	broad.mit.edu	37	chr12	121432064	121432064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacaactggtttgccaacCggcgcaaagaagaagccttc	12	8	9	12	2	1	2	0	0	1	2	2	2	1	2	3	2	5	2	3	2	6	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:121432064C>T	ENST00000257555.6	+	4	1037	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	HNF1A_ENST00000543427.1_Missense_Mutation_p.R154W|HNF1A_ENST00000402929.1_Missense_Mutation_p.R271W|HNF1A_ENST00000544413.1_Missense_Mutation_p.R271W|HNF1A_ENST00000541395.1_Missense_Mutation_p.R271W|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000400024.2_Missense_Mutation_p.R271W			P20823	HNF1A_HUMAN	HNF1 homeobox A	271	Interaction with DNA.		R -> W (in MODY3).		glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	p.K273fs*41(1)|p.R271W(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTTTGCCAACCGGCGCAAAGA	0.667									Hepatic Adenoma, Familial Clustering of				T	121432064	C	T	121432064	3	4	425	1	0	0	0	0	1	0	0	0	7306	643	23	1	825	1	HNF1A	12	121432064	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	7879459	121432064	12419831	32	42121											
DDX51	317781	broad.mit.edu	37	chr12	132628264	132628264	+	Frame_Shift_Del	DEL	C	C	-																															ggcgccttcctcttcccgaaCccccccagcaccaggccggg																										TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr12:132628264delC	ENST00000397333.3	-	2	533	c.495delG	c.(493-495)gggfs	p.G165fs		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	165					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		TCTTCCCGAACCCCCCCAGCA	0.756													-	132628264	C	-	132628264	7	5	425	1	0	1	0	1	0	0	0	0	4403	494	18	0	1561	0	DDX51	12	132628264	Frame_Shift_Del	DEL	C	TCGA-DU-A76K-01A-11D-A33T-08	11196200	132628264	1223631	33	42122											
ARL11	115761	broad.mit.edu	37	chr13	50204751	50204751	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgaaagctcctgggcaCgtgtcactgactctctggga	7	10	11	13	1	3	2	1	2	2	0	5	3	4	3	2	2	1	2	2	2	1	0			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr13:50204751C>T	ENST00000282026.1	+	2	503	c.168C>T	c.(166-168)caC>caT	p.H56H	ARL11_ENST00000490932.1_Intron	NM_138450.5	NP_612459.1	Q969Q4	ARL11_HUMAN	ADP-ribosylation factor-like 11	56					small GTPase mediated signal transduction	intracellular	GTP binding|protein binding			kidney(1)|large_intestine(4)|ovary(1)	6		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.119)|Kidney(9;0.169)	GBM - Glioblastoma multiforme(99;1.67e-09)		CTCCTGGGCACGTGTCACTGA	0.602													T	50204751	C	T	50204751	2	4	425	1	0	0	0	0	0	0	0	1	930	535	19	1		1	ARL11	13	50204751	Silent	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		50204751	64965127	34	42123											
SLC12A1	6557	broad.mit.edu	37	chr15	48533740	48533740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgccatccccagaggaaCcatgctggccattttcatca	11	9	8	13	0	2	2	2	0	0	2	3	3	3	3	5	2	3	1	5	2	1	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr15:48533740C>A	ENST00000396577.3	+	10	1459	c.1244C>A	c.(1243-1245)aCc>aAc	p.T415N	SLC12A1_ENST00000380993.3_Missense_Mutation_p.T415N|SLC12A1_ENST00000558405.1_Missense_Mutation_p.T415N	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	415					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	CCCAGAGGAACCATGCTGGCC	0.428													A	48533740	C	A	48533740	3	1	425	1	0	0	0	0	1	0	0	0	14476	507	18	4	1378	4	SLC12A1	15	48533740	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08		48533740	53997652	35	42124											
FUS	2521	broad.mit.edu	37	chr16	31195601	31195601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctacagccagcagcctagctAtggtggacagcagcaaagct	12	6	11	12	0	0	0	0	0	0	0	0	1	0	1	2	2	8	5	2	2	4	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr16:31195601A>G	ENST00000254108.7	+	5	512	c.407A>G	c.(406-408)tAt>tGt	p.Y136C	FUS_ENST00000568685.1_Missense_Mutation_p.Y136C|FUS_ENST00000380244.3_Missense_Mutation_p.Y135C	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	136	Gln/Gly/Ser/Tyr-rich.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		CAGCCTAGCTATGGTGGACAG	0.522			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								G	31195601	A	G	31195601	3	3	425	1	0	0	0	0	1	0	0	0	6152	449	16	3	425	3	FUS	16	31195601	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08		31195601	59159152	36	42125											
MYO1C	4641	broad.mit.edu	37	chr17	1371366	1371366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcgtgagcagcagctgccGggagcgaggcttgtagccct	6	6	18	11	3	0	1	0	1	0	0	0	3	0	2	2	3	6	5	2	3	1	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:1371366G>A	ENST00000359786.5	-	28	3136	c.2812C>T	c.(2812-2814)Cgg>Tgg	p.R938W	MYO1C_ENST00000575158.1_Missense_Mutation_p.R903W|MYO1C_ENST00000438665.2_Missense_Mutation_p.R919W|MYO1C_ENST00000545534.2_Missense_Mutation_p.R914W|MYO1C_ENST00000361007.2_Missense_Mutation_p.R903W	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	938					mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		AGCAGCTGCCGGGAGCGAGGC	0.627													A	1371366	G	A	1371366	3	1	425	1	0	0	0	0	1	0	0	0	10146	1115	39	1	399	1	MYO1C	17	1371366	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		1371366	79823844	37	42126											
DNAH2	146754	broad.mit.edu	37	chr17	7646596	7646597	+	Frame_Shift_Ins	INS	-	-	T																															gtttgctatcgtcattttacINSttttttttttcttcttttat																										TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:7646596_7646597insT	ENST00000570791.1	+	14	2371_2372	c.2286_2287insT	c.(2287-2289)tttfs	p.F763fs	DNAH2_ENST00000082259.3_Frame_Shift_Ins_p.F763fs|DNAH2_ENST00000572933.1_Intron|DNAH2_ENST00000389173.2_Intron			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	0	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CGTCATTTTACTTTTTTTTTTC	0.342													T	7646597	-	T	7646596	7	5	425	1	0	1	1	0	0	0	0	0	4641	580	20	0		0	DNAH2	17	7646596	Frame_Shift_Ins	INS	-	TCGA-DU-A76K-01A-11D-A33T-08	6275230	7646596	73548614	38	42127											
PRPSAP2	5636	broad.mit.edu	37	chr17	18781090	18781090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaagagcatcattggcGtgataccctactttccttac	9	12	8	12	1	1	2	1	1	0	1	2	2	2	2	3	1	5	1	3	1	4	5			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:18781090G>A	ENST00000268835.2	+	6	602	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	PRPSAP2_ENST00000536323.1_Missense_Mutation_p.V21M|PRPSAP2_ENST00000419071.2_Missense_Mutation_p.V67M|PRPSAP2_ENST00000542013.1_Missense_Mutation_p.V107M	NM_002767.3	NP_002758.1	O60256	KPRB_HUMAN	phosphoribosyl pyrophosphate synthetase-associated protein 2	107					nucleotide biosynthetic process		enzyme inhibitor activity|magnesium ion binding|ribose phosphate diphosphokinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11						CATCATTGGCGTGATACCCTA	0.458													A	18781090	G	A	18781090	3	1	425	1	0	0	0	0	1	0	0	0	12668	1145	40	1	333	1	PRPSAP2	17	18781090	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	11134494	18781090	62414120	39	42128											
UNC45B	146862	broad.mit.edu	37	chr17	33486482	33486482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagggcagggatcaggcGctgaacctgctcaataagaa	12	5	14	10	1	2	2	2	1	0	1	2	3	2	3	2	4	2	3	2	4	4	1	rs151107152	byFrequency	TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:33486482G>A	ENST00000268876.5	+	8	994	c.897G>A	c.(895-897)gcG>gcA	p.A299A	UNC45B_ENST00000591048.1_Silent_p.A299A|UNC45B_ENST00000394570.2_Silent_p.A299A|UNC45B_ENST00000433649.1_Silent_p.A299A|UNC45B_ENST00000378449.1_Silent_p.A299A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	299					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GGGATCAGGCGCTGAACCTGC	0.512													A	33486482	G	A	33486482	2	1	425	1	0	0	0	0	0	0	0	1	17091	1074	38	1		1	UNC45B	17	33486482	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	14705392	33486482	47708728	40	42129											
KRTAP4-2	85291	broad.mit.edu	37	chr17	39334113	39334113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtctggccacagctggggcGgcagcaggtgggctggcagt	5	6	20	10	1	1	0	0	0	1	0	1	0	1	0	1	8	2	5	1	8	0	0			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:39334113G>A	ENST00000377726.2	-	1	347	c.304C>T	c.(304-306)Cgc>Tgc	p.R102C		NM_033062.3	NP_149051	Q9BYR5	KRA42_HUMAN	keratin associated protein 4-2	102	20 X 5 AA repeats OF C-C-[GRQVS]-[SPT]- [VSTQ].					keratin filament				kidney(2)|lung(4)|upper_aerodigestive_tract(1)	7		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			CAGCTGGGGCGGCAGCAGGTG	0.657													A	39334113	G	A	39334113	3	1	425	1	0	0	0	0	1	0	0	0	8610	1116	39	1	110	1	KRTAP4-2	17	39334113	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	5847631	39334113	41861097	41	42130											
BRCA1	672	broad.mit.edu	37	chr17	41276094	41276094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgtacttcttcaacgCgaagagcagataaatccatt	13	13	6	9	2	2	2	1	0	1	2	3	3	3	2	1	0	3	2	1	0	5	7	rs144792613		TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:41276094C>T	ENST00000357654.3	-	2	138	c.20G>A	c.(19-21)cGc>cAc	p.R7H	BRCA1_ENST00000351666.3_Missense_Mutation_p.R7H|BRCA1_ENST00000591849.1_Intron|BRCA1_ENST00000493795.1_5'UTR|BRCA1_ENST00000354071.3_Missense_Mutation_p.R7H|BRCA1_ENST00000491747.2_Missense_Mutation_p.R7H|BRCA1_ENST00000591534.1_Intron|BRCA1_ENST00000352993.3_Missense_Mutation_p.R7H|BRCA1_ENST00000586385.1_Intron|BRCA1_ENST00000471181.2_Missense_Mutation_p.R7H|BRCA1_ENST00000346315.3_Missense_Mutation_p.R7H|BRCA1_ENST00000309486.4_5'UTR|BRCA1_ENST00000468300.1_Missense_Mutation_p.R7H	NM_007294.3	NP_009225.1	P38398	BRCA1_HUMAN	breast cancer 1, early onset	7					androgen receptor signaling pathway|apoptosis|cellular response to indole-3-methanol|chromosome segregation|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|DNA damage response, signal transduction resulting in induction of apoptosis|double-strand break repair via homologous recombination|fatty acid biosynthetic process|G2/M transition DNA damage checkpoint|negative regulation of centriole replication|negative regulation of fatty acid biosynthetic process|negative regulation of histone H3-K9 methylation|negative regulation of transcription, DNA-dependent|positive regulation of cell cycle arrest|positive regulation of DNA repair|positive regulation of histone acetylation|positive regulation of histone H3-K4 methylation|positive regulation of histone H4-K20 methylation|positive regulation of protein ubiquitination|positive regulation of transcription from RNA polymerase II promoter|postreplication repair|protein autoubiquitination|protein K6-linked ubiquitination|regulation of cell motility|regulation of cell proliferation|regulation of transcription from RNA polymerase III promoter|response to estrogen stimulus|response to ionizing radiation|substrate adhesion-dependent cell spreading	BRCA1-A complex|BRCA1-BARD1 complex|gamma-tubulin ring complex|nucleoplasm|plasma membrane|ribonucleoprotein complex|ruffle	androgen receptor binding|identical protein binding|protein binding|RNA binding|transcription coactivator activity|transcription regulatory region DNA binding|tubulin binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(30)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(28)|ovary(36)|skin(2)|stomach(4)|urinary_tract(2)	120		Breast(137;0.000717)		BRCA - Breast invasive adenocarcinoma(366;0.126)		TTCTTCAACGCGAAGAGCAGA	0.308			"D, Mis, N, F, S"		ovarian	"breast, ovarian"		Homologous recombination	Hereditary Breast-Ovarian Cancer, BRCA1 type	TCGA Ovarian(2;0.000030)			T	41276094	C	T	41276094	3	4	425	1	0	0	0	0	1	0	0	0	1507	768	27	1	5729	1	BRCA1	17	41276094	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	1941981	41276094	39919116	42	42131											
FMNL1	752	broad.mit.edu	37	chr17	43313573	43313573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagaaggacgacgtccacGtctgtattatgtgcctacgc	9	9	11	12	4	1	1	0	0	1	1	2	3	2	2	3	1	2	1	3	1	4	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:43313573G>A	ENST00000331495.3	+	7	1021	c.685G>A	c.(685-687)Gtc>Atc	p.V229I	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Missense_Mutation_p.V229I	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	229	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGACGTCCACGTCTGTATTAT	0.642											OREG0024477	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	43313573	G	A	43313573	3	1	425	1	0	0	0	0	1	0	0	0	6000	1145	40	1	711	1	FMNL1	17	43313573	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	2037479	43313573	37881637	43	42132											
C1QTNF1	114897	broad.mit.edu	37	chr17	77044003	77044003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgttcgcgcaggtgggcGaccgcagcatcatgcaaagc	8	8	13	12	4	2	0	1	0	1	0	3	1	2	0	1	2	3	5	1	2	1	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr17:77044003G>A	ENST00000339142.2	+	5	1234	c.679G>A	c.(679-681)Gac>Aac	p.D227N	C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D237N|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D145N|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D227N|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D145N|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D227N|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D227N	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	227	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			GCAGGTGGGCGACCGCAGCAT	0.577													A	77044003	G	A	77044003	3	1	425	1	0	0	0	0	1	0	0	0	1982	1058	37	1	689	1	C1QTNF1	17	77044003	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	33730430	77044003	4151207	44	42133											
SERPINB11	89778	broad.mit.edu	37	chr18	61379901	61379901	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattgccaacaggctctacGggacaaagacgatggcattt	12	8	11	10	2	1	1	0	0	1	1	1	3	1	2	1	3	3	3	1	3	3	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:61379901G>A	ENST00000544088.1	+	0	393				SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000489748.1_RNA|SERPINB11_ENST00000538847.1_RNA|SERPINB11_ENST00000536691.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				CAGGCTCTACGGGACAAAGAC	0.443													A	61379901	G	A	61379901	1	1	425	0	1	0	0	0	0	0	0	0	14191	1116	39	1		1	SERPINB11	18	61379901	RNA	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		61379901	16697347	45	42134											
RTTN	25914	broad.mit.edu	37	chr18	67816254	67816254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgcagttacccagaggaTcttctgtgtcggcatagccc	9	10	11	11	1	2	1	0	0	2	1	3	3	2	2	2	2	3	3	2	2	3	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:67816254T>C	ENST00000255674.6	-	17	2478	c.2192A>G	c.(2191-2193)gAt>gGt	p.D731G	RTTN_ENST00000454359.1_Missense_Mutation_p.D731G|RTTN_ENST00000437017.1_Missense_Mutation_p.D731G	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	731							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACCCAGAGGATCTTCTGTGTC	0.368													C	67816254	T	C	67816254	3	2	425	1	0	0	0	0	1	0	0	0	13828	1435	50	3	4620	3	RTTN	18	67816254	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	6436353	67816254	10260994	46	42135											
ZNF516	9658	broad.mit.edu	37	chr18	74091249	74091249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctattggccgagggctgcgCgccagcccgggcgatgacgg	5	5	18	13	6	0	1	0	1	0	0	0	3	0	1	3	4	2	2	3	4	1	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr18:74091249C>T	ENST00000443185.2	-	4	3138	c.2821G>A	c.(2821-2823)Gcg>Acg	p.A941T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	941					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GAGGGCTGCGCGCCAGCCCGG	0.701													T	74091249	C	T	74091249	3	4	425	1	0	0	0	0	1	0	0	0	18061	768	27	1	687	1	ZNF516	18	74091249	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	6274995	74091249	3985999	47	42136											
ZFR2	23217	broad.mit.edu	37	chr19	3825253	3825253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataaggccttcgaggccacGggtctcttggccagcgctgg	6	8	14	13	3	1	0	0	0	1	0	3	1	1	0	3	5	1	1	3	5	1	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3825253G>A	ENST00000262961.4	-	7	1198	c.1188C>T	c.(1186-1188)ccC>ccT	p.P396P		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	396						intracellular	nucleic acid binding|zinc ion binding			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		TCGAGGCCACGGGTCTCTTGG	0.642													A	3825253	G	A	3825253	2	1	425	1	0	0	0	0	0	0	0	1	17761	1103	39	1		1	ZFR2	19	3825253	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		3825253	55303730	48	42137											
ATCAY	85300	broad.mit.edu	37	chr19	3913829	3913829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcatccctatggaacacGtccagatcccagactgcgtc	11	8	7	15	2	1	2	1	0	0	2	5	3	4	3	3	1	3	0	3	1	3	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:3913829G>A	ENST00000450849.2	+	9	1407	c.940G>A	c.(940-942)Gtc>Atc	p.V314I	ATCAY_ENST00000600960.1_Missense_Mutation_p.V314I|ATCAY_ENST00000398448.3_Missense_Mutation_p.V320I|ATCAY_ENST00000301260.6_Missense_Mutation_p.V314I	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	314	CRAL-TRIO.				transport		protein binding			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TATGGAACACGTCCAGATCCC	0.562													A	3913829	G	A	3913829	3	1	425	1	0	0	0	0	1	0	0	0	1082	1145	40	1	970	1	ATCAY	19	3913829	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	88576	3913829	55215154	49	42138											
FFAR3	2865	broad.mit.edu	37	chr19	35849929	35849929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaagctgcagcgccGcccggtggccgtggacgtgc	4	5	18	14	6	0	0	0	0	0	0	0	1	0	1	3	4	4	3	3	4	1	0			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:35849929G>A	ENST00000327809.4	+	2	338	c.137G>A	c.(136-138)cGc>cAc	p.R46H	FFAR3_ENST00000594310.1_Missense_Mutation_p.R46H	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	46						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			CTGCAGCGCCGCCCGGTGGCC	0.637													A	35849929	G	A	35849929	3	1	425	1	0	0	0	0	1	0	0	0	5878	1087	38	1	139	1	FFAR3	19	35849929	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	31936100	35849929	23279054	50	42139											
ALDH16A1	126133	broad.mit.edu	37	chr19	49967201	49967201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagcctccccatgtgcccagGtggaggtgagacccttaagg	8	7	13	13	0	0	1	0	1	0	1	1	3	1	2	5	4	2	0	5	4	1	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:49967201G>A	ENST00000293350.4	+	9	1352	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	CTD-3148I10.9_ENST00000599536.1_Missense_Mutation_p.G32D|ALDH16A1_ENST00000455361.2_Missense_Mutation_p.V346M|ALDH16A1_ENST00000433981.2_Missense_Mutation_p.V232M|ALDH16A1_ENST00000540132.1_Missense_Mutation_p.V234M	NM_153329.3	NP_699160.2	Q8IZ83	A16A1_HUMAN	aldehyde dehydrogenase 16 family, member A1	397							oxidoreductase activity|protein binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|skin(2)|urinary_tract(3)	20		all_lung(116;5.39e-06)|Lung NSC(112;1.97e-05)|all_neural(266;0.0966)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0251)		ATGTGCCCAGGTGGAGGTGAG	0.627													A	49967201	G	A	49967201	3	1	425	1	0	0	0	0	1	0	0	0	488	1261	44	2	1223	2	ALDH16A1	19	49967201	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	14117272	49967201	9161782	51	42140											
GPR32	2854	broad.mit.edu	37	chr19	51274418	51274418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccagaaaatggaatggCtgtacgcactgctacttggc	13	8	10	10	1	0	1	0	0	0	1	0	2	0	2	1	3	4	4	1	3	6	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:51274418C>T	ENST00000270590.4	+	1	698	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	187						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		AATGGAATGGCTGTACGCACT	0.572													T	51274418	C	T	51274418	2	4	425	1	0	0	0	0	0	0	0	1	6742	784	28	2		2	GPR32	19	51274418	Silent	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	1307217	51274418	7854565	52	42141											
KIR2DL4	3805	broad.mit.edu	37	chr19	55325146	55325146	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttccgtctcctacagaTgctgctgtaatgaaccaaga	10	12	8	11	1	1	3	0	1	1	2	3	3	2	3	3	0	5	4	3	0	4	4			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr19:55325146T>C	ENST00000396284.2	+	7	873	c.873T>C	c.(871-873)gaT>gaC	p.D291D	KIR2DL4_ENST00000345540.5_Splice_Site_p.D236D|KIR2DL4_ENST00000463062.1_3'UTR|KIR3DL1_ENST00000538269.1_Intron|KIR2DL4_ENST00000346587.4_Splice_Site_p.D141D|KIR2DL4_ENST00000357494.4_Splice_Site_p.D219D|KIR3DL1_ENST00000541392.1_Intron|KIR2DL4_ENST00000359085.4_Splice_Site_p.M271T|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396293.1_Splice_Site_p.D124D					killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 4											NS(1)|breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		CTCCTACAGATGCTGCTGTAA	0.522													C	55325146	T	C	55325146	5	2	425	1	0	0	0	0	0	0	1	0	8376	1478	51	3	838	3	KIR2DL4	19	55325146	Splice_Site	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08	4050728	55325146	3803837	53	42142											
VPS16	64601	broad.mit.edu	37	chr20	2844622	2844622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agaaggatgtctcagatgagGatgtggctcgagccattaac	12	9	13	7	1	1	3	1	1	1	2	3	6	1	5	1	3	2	1	1	3	2	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:2844622G>T	ENST00000380445.3	+	16	1576	c.1504G>T	c.(1504-1506)Gat>Tat	p.D502Y	VPS16_ENST00000380443.3_Missense_Mutation_p.D188Y|VPS16_ENST00000380469.3_Missense_Mutation_p.D358Y|VPS16_ENST00000481812.2_3'UTR	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	502					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CTCAGATGAGGATGTGGCTCG	0.572													T	2844622	G	T	2844622	3	4	425	1	0	0	0	0	1	0	0	0	17295	1174	41	4	1566	4	VPS16	20	2844622	Missense_Mutation	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08		2844622	60180898	54	42143											
TFAP2C	7022	broad.mit.edu	37	chr20	55206327	55206327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccgccgggcagcacCtctacagccccgcgccaccc	5	5	8	23	4	2	0	0	0	2	0	4	0	3	0	8	1	3	2	8	1	1	1			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr20:55206327C>G	ENST00000201031.2	+	2	358	c.115C>G	c.(115-117)Ctc>Gtc	p.L39V	TFAP2C_ENST00000544508.1_5'UTR	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	39	Gln/Pro-rich (transactivation domain).				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			CGGGCAGCACCTCTACAGCCC	0.637													G	55206327	C	G	55206327	3	3	425	1	0	0	0	0	1	0	0	0	15889	681	24	4	121	4	TFAP2C	20	55206327	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	52361705	55206327	7819193	55	42144											
LIPI	149998	broad.mit.edu	37	chr21	15517083	15517083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attataaaattgagcaagaaTcttgacttcttgaagtttat	15	16	6	4	0	2	4	0	3	2	1	2	4	2	4	0	0	1	2	0	0	7	8			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:15517083T>C	ENST00000344577.2	-	9	1244	c.1219A>G	c.(1219-1221)Att>Gtt	p.I407V	LIPI_ENST00000536861.1_Missense_Mutation_p.I386V	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	386					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		TGAGCAAGAATCTTGACTTCT	0.294													C	15517083	T	C	15517083	3	2	425	1	0	0	0	0	1	0	0	0	8886	1435	50	3	234	3	LIPI	21	15517083	Missense_Mutation	SNP	T	TCGA-DU-A76K-01A-11D-A33T-08		15517083	32612812	56	42145											
DOPEY2	9980	broad.mit.edu	37	chr21	37617841	37617841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactcggacaagacgcaggCttctgagtcgttctccagcg	8	8	13	12	4	2	2	0	1	2	1	5	4	2	4	1	3	1	3	1	3	1	2			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr21:37617841C>T	ENST00000399151.3	+	19	3648	c.3563C>T	c.(3562-3564)gCt>gTt	p.A1188V		NM_005128.2	NP_005119.2	Q9Y3R5	DOP2_HUMAN	dopey family member 2	1188					endoplasmic reticulum organization|Golgi to endosome transport|multicellular organismal development|protein transport	Golgi membrane				autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(6)|lung(25)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAGACGCAGGCTTCTGAGTCG	0.637													T	37617841	C	T	37617841	3	4	425	1	0	0	0	0	1	0	0	0	4747	797	28	2	3633	2	DOPEY2	21	37617841	Missense_Mutation	SNP	C	TCGA-DU-A76K-01A-11D-A33T-08	22100758	37617841	10512054	57	42146											
DEPDC5	9681	broad.mit.edu	37	chr22	32293599	32293599	+	Frame_Shift_Del	DEL	C	C	-																															ctcttcatcccactcaacatCagctgcttgctcaaggaggg																										TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chr22:32293599delC	ENST00000400246.1	+	40	4477	c.4335delC	c.(4333-4335)atcfs	p.I1445fs	DEPDC5_ENST00000382111.2_Frame_Shift_Del_p.I1445fs|DEPDC5_ENST00000400248.2_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000382105.2_3'UTR|DEPDC5_ENST00000382112.3_Frame_Shift_Del_p.I1436fs|DEPDC5_ENST00000539165.1_Frame_Shift_Del_p.I262fs|DEPDC5_ENST00000266091.3_Frame_Shift_Del_p.I1423fs|DEPDC5_ENST00000400249.2_Frame_Shift_Del_p.I1414fs|DEPDC5_ENST00000535622.1_Frame_Shift_Del_p.I1345fs			O75140	DEPD5_HUMAN	DEP domain containing 5	1414					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CACTCAACATCAGCTGCTTGC	0.527													-	32293599	C	-	32293599	7	5	425	1	0	1	0	1	0	0	0	0	4481	816	29	0	4480	0	DEPDC5	22	32293599	Frame_Shift_Del	DEL	C	TCGA-DU-A76K-01A-11D-A33T-08		32293599	19010967	58	42147											
MTMR1	8776	broad.mit.edu	37	chrX	149898642	149898642	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtaaactagggatatttgAaaacctcaacaaacatgcat	18	9	7	7	0	1	1	1	1	0	0	1	3	1	2	1	1	5	2	1	1	8	4			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:149898642A>G	ENST00000445323.2	+	7	738	c.617A>G	c.(616-618)gAa>gGa	p.E206G	MTMR1_ENST00000451863.2_Missense_Mutation_p.E198G|MTMR1_ENST00000542156.1_Missense_Mutation_p.E198G|MTMR1_ENST00000370390.3_Missense_Mutation_p.E198G|MTMR1_ENST00000541925.1_Missense_Mutation_p.E104G|MTMR1_ENST00000544228.1_Missense_Mutation_p.E198G|MTMR1_ENST00000538506.1_Missense_Mutation_p.E85G			Q13613	MTMR1_HUMAN	myotubularin related protein 1	198						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGGATATTTGAAAACCTCAAC	0.378													G	149898642	A	G	149898642	3	3	425	1	0	0	0	0	1	0	0	0	10014	246	9	3	615	3	MTMR1	23	149898642	Missense_Mutation	SNP	A	TCGA-DU-A76K-01A-11D-A33T-08		149898642	5371918	59	42148											
PDZD4	57595	broad.mit.edu	37	chrX	153069951	153069951	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggctctcgttgcggttGacgtccagggcgctgttgcc	3	10	14	14	4	1	1	0	1	1	0	3	1	2	1	3	3	2	5	3	3	0	3			TCGA-DU-A76K-01A-11D-A33T-08	TCGA-DU-A76K-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7e65ac87-b843-4176-90c7-d3fd03114592	748c35bd-25c3-4777-b55f-df4a4e590b22	g.chrX:153069951G>A	ENST00000164640.4	-	8	1358	c.1167C>T	c.(1165-1167)gtC>gtT	p.V389V	PDZD4_ENST00000544474.1_Silent_p.V280V|PDZD4_ENST00000393758.2_Silent_p.V314V	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	389						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGCGGTTGACGTCCAGGG	0.632													A	153069951	G	A	153069951	2	1	425	1	0	0	0	0	0	0	0	1	11779	1277	45	2		2	PDZD4	23	153069951	Silent	SNP	G	TCGA-DU-A76K-01A-11D-A33T-08	3171309	153069951	2200609	60	42149											
DEPDC1	55635	broad.mit.edu	37	chr1	68947217	68947217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaaaagttgaagctttctaCgatttggtgggggaagtaac	12	13	12	4	1	1	1	0	1	1	0	1	3	1	2	0	3	3	3	0	3	6	6			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:68947217C>T	ENST00000456315.2	-	9	1955	c.1841G>A	c.(1840-1842)cGt>cAt	p.R614H	DEPDC1_ENST00000370966.5_Missense_Mutation_p.R330H|RP4-694A7.2_ENST00000425820.1_RNA	NM_001114120.1	NP_001107592.1	Q5TB30	DEP1A_HUMAN	DEP domain containing 1	614	Interaction with ZNF224.				intracellular signal transduction|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	transcriptional repressor complex	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				OV - Ovarian serous cystadenocarcinoma(397;7.21e-36)		AAGCTTTCTACGATTTGGTGG	0.423													T	68947217	C	T	68947217	3	4	426	1	0	0	0	0	1	0	0	0	4478	536	19	1	610	1	DEPDC1	1	68947217	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		68947217	180303404	1	42150											
LCE3A	353142	broad.mit.edu	37	chr1	152595412	152595412	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcaacggcaacggtgagaCctgcggcatctgtggtgact	8	8	15	10	3	1	2	0	2	1	1	1	3	1	2	1	5	3	3	1	5	2	0			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:152595412C>A	ENST00000335674.1	-	1	167	c.168G>T	c.(166-168)agG>agT	p.R56S		NM_178431.1	NP_848518.1	Q5TA76	LCE3A_HUMAN	late cornified envelope 3A	56					keratinization					endometrium(1)|lung(5)	6	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			AACGGTGAGACCTGCGGCATC	0.652													A	152595412	C	A	152595412	3	1	426	1	0	0	0	0	1	0	0	0	8728	506	18	4	104	4	LCE3A	1	152595412	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	83648195	152595412	96655209	2	42151											
PEAR1	375033	broad.mit.edu	37	chr1	156876623	156876623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgccatggggcaccctgcGatccccagactggagcctgc	7	6	13	15	1	0	1	0	0	0	1	1	3	1	2	5	3	4	1	5	3	0	0			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:156876623G>A	ENST00000338302.3	+	7	820	c.595G>A	c.(595-597)Gat>Aat	p.D199N	PEAR1_ENST00000292357.7_Missense_Mutation_p.D199N			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	199						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GGCACCCTGCGATCCCCAGAC	0.622													A	156876623	G	A	156876623	3	1	426	1	0	0	0	0	1	0	0	0	11788	1058	37	1	613	1	PEAR1	1	156876623	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	4281211	156876623	92373998	3	42152											
GPA33	10223	broad.mit.edu	37	chr1	167042732	167042732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgcgaagcccgaagaaCgtcctgcggagtttccacag	9	7	11	14	4	0	1	0	0	0	1	3	4	3	2	4	1	4	1	4	1	3	1			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:167042732C>T	ENST00000367868.3	-	2	431	c.88G>A	c.(88-90)Gtt>Att	p.V30I	GPA33_ENST00000527955.1_5'UTR	NM_005814.1	NP_005805.1	Q99795	GPA33_HUMAN	glycoprotein A33 (transmembrane)	30	Ig-like V-type.					integral to plasma membrane	receptor activity			endometrium(4)|large_intestine(1)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GCCCGAAGAACGTCCTGCGGA	0.547													T	167042732	C	T	167042732	3	4	426	1	0	0	0	0	1	0	0	0	6640	536	19	1	895	1	GPA33	1	167042732	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	10166109	167042732	82207889	4	42153											
HMCN1	83872	broad.mit.edu	37	chr1	186114591	186114591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgcagccggacgtgtaacGgagggcagatgcggcggtac	9	5	17	10	5	0	1	0	0	0	1	0	3	0	3	1	5	5	4	1	5	2	2	rs147296385		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:186114591G>A	ENST00000271588.4	+	92	14552	c.14323G>A	c.(14323-14325)Gga>Aga	p.G4775R	HMCN1_ENST00000367492.2_Missense_Mutation_p.G4775R	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4775	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GACGTGTAACGGAGGGCAGAT	0.552													A	186114591	G	A	186114591	3	1	426	1	0	0	0	0	1	0	0	0	7275	1117	39	1	14689	1	HMCN1	1	186114591	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	19071859	186114591	63136030	5	42154											
CACNA1S	779	broad.mit.edu	37	chr1	201035428	201035428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccctcaggatcttcaccaCggagatggcactggacctgg	9	7	11	14	1	3	1	2	0	1	1	3	4	3	3	3	5	0	1	3	5	0	1	rs146823170		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:201035428C>T	ENST00000362061.3	-	21	2900	c.2674G>A	c.(2674-2676)Gtg>Atg	p.V892M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.V892M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	892					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATCTTCACCACGGAGATGGCA	0.662													T	201035428	C	T	201035428	3	4	426	1	0	0	0	0	1	0	0	0	2573	536	19	1	3043	1	CACNA1S	1	201035428	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	14920837	201035428	48215193	6	42155											
OR2T8	343172	broad.mit.edu	37	chr1	248085070	248085070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggtgggactcttttatGgagctgccatttttacctat	6	17	10	8	0	1	0	0	0	1	0	1	2	1	2	2	3	3	1	2	3	3	6			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248085070G>A	ENST00000319968.4	+	1	751	c.751G>A	c.(751-753)Gga>Aga	p.G251R		NM_001005522.1	NP_001005522.1	A6NH00	OR2T8_HUMAN	olfactory receptor, family 2, subfamily T, member 8	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(20)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0211)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			ACTCTTTTATGGAGCTGCCAT	0.493													A	248085070	G	A	248085070	3	1	426	1	0	0	0	0	1	0	0	0	11106	1349	47	2	753	2	OR2T8	1	248085070	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	47049642	248085070	1165551	7	42156											
OR2T27	403239	broad.mit.edu	37	chr1	248813468	248813468	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatgtgtgaggagcaggTggccacagcctttcccctcc	7	8	11	15	0	0	1	0	1	0	0	2	2	2	2	6	3	2	1	6	3	0	1			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr1:248813468T>G	ENST00000344889.3	-	1	717	c.718A>C	c.(718-720)Acc>Ccc	p.T240P		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GAGGAGCAGGTGGCCACAGCC	0.532													G	248813468	T	G	248813468	3	3	426	1	0	0	0	0	1	0	0	0	11097	1696	59	5	238	5	OR2T27	1	248813468	Missense_Mutation	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08	728398	248813468	437153	8	42157											
SMYD5	10322	broad.mit.edu	37	chr2	73441468	73441468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgggtctccgtggaagTccgtttcgtgagcagcgcca	5	8	15	13	7	1	1	0	1	1	0	4	2	2	2	3	2	2	2	3	2	1	1			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:73441468T>C	ENST00000389501.4	+	1	119	c.74T>C	c.(73-75)gTc>gCc	p.V25A		NM_006062.2	NP_006053.2	Q6GMV2	SMYD5_HUMAN	SMYD family member 5	25							metal ion binding			NS(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13						TCCGTGGAAGTCCGTTTCGTG	0.716													C	73441468	T	C	73441468	3	2	426	1	0	0	0	0	1	0	0	0	14919	1667	58	3	76	3	SMYD5	2	73441468	Missense_Mutation	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08		73441468	169757905	9	42158											
EDAR	10913	broad.mit.edu	37	chr2	109527350	109527350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccaggctctccgacaggGggagttgacggagagtccag	9	5	16	11	2	1	2	0	1	1	1	3	5	2	3	3	4	1	2	3	4	0	1			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:109527350G>A	ENST00000409271.1	-	8	1151	c.708C>T	c.(706-708)ccC>ccT	p.P236P	EDAR_ENST00000258443.2_Intron|EDAR_ENST00000376651.1_Silent_p.P236P			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	217					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTCCGACAGGGGGAGTTGACG	0.637													A	109527350	G	A	109527350	2	1	426	1	0	0	0	0	0	0	0	1	4944	1247	43	2		2	EDAR	2	109527350	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	36085882	109527350	133672023	10	42159											
SLC11A1	6556	broad.mit.edu	37	chr2	219259397	219259397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcatggtgctagtctgCgccatcaacctctacttcgt	7	13	7	14	2	4	0	2	0	2	0	6	0	5	0	3	1	4	1	3	1	3	3			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr2:219259397C>T	ENST00000233202.6	+	14	1771	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC11A1_ENST00000539932.1_Silent_p.C359C	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	477					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGCTAGTCTGCGCCATCAACC	0.617													T	219259397	C	T	219259397	2	4	426	1	0	0	0	0	0	0	0	1	14474	776	27	1		1	SLC11A1	2	219259397	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	109732047	219259397	23939976	11	42160											
RARB	5915	broad.mit.edu	37	chr3	25215976	25215976	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccctacccgttactctttCcacctgtcatcggaggactt	7	12	6	16	2	2	0	1	0	1	0	4	2	3	2	4	2	2	1	4	2	2	4			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:25215976C>G	ENST00000404969.1	+	1	88	c.88C>G	c.(88-90)Cca>Gca	p.P30A				P10826	RARB_HUMAN	retinoic acid receptor, beta	30	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	GTTACTCTTTCCACCTGTCAT	0.607													G	25215976	C	G	25215976	3	3	426	1	0	0	0	0	1	0	0	0	13141	870	30	4		4	RARB	3	25215976	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		25215976	172806454	12	42161											
CX3CR1	1524	broad.mit.edu	37	chr3	39307575	39307575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtgacgccatgctgcacGgtccggttgttcatggagtt	6	12	14	9	3	1	1	1	1	0	0	2	2	2	2	2	4	2	5	2	4	0	3			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:39307575G>A	ENST00000541347.1	-	2	665	c.426C>T	c.(424-426)acC>acT	p.T142T	CX3CR1_ENST00000542107.1_Silent_p.T142T|CX3CR1_ENST00000399220.2_Silent_p.T142T|CX3CR1_ENST00000358309.3_Silent_p.T174T	NM_001171171.1	NP_001164642.1	P49238	CX3C1_HUMAN	chemokine (C-X3-C motif) receptor 1	142					cell adhesion|cellular defense response|chemotaxis|interspecies interaction between organisms|response to wounding	integral to plasma membrane	chemokine receptor activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(13)|prostate(1)|skin(1)|urinary_tract(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0557)|Kidney(284;0.0699)		CATGCTGCACGGTCCGGTTGT	0.522													A	39307575	G	A	39307575	2	1	426	1	0	0	0	0	0	0	0	1	4108	1103	39	1		1	CX3CR1	3	39307575	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	14091599	39307575	158714855	13	42162											
HLTF	6596	broad.mit.edu	37	chr3	148756906	148756906	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacctgcttttaaggacagaAgcattatagttggagatcct	12	12	9	8	0	0	2	0	0	0	2	1	4	1	3	2	2	2	3	2	2	4	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:148756906A>C	ENST00000310053.5	-	23	2919	c.2726T>G	c.(2725-2727)cTt>cGt	p.L909R	HLTF_ENST00000392912.2_Missense_Mutation_p.L909R|HLTF_ENST00000465259.1_Missense_Mutation_p.L908R|HLTF_ENST00000494055.1_Missense_Mutation_p.L909R	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	909	Helicase C-terminal.				chromatin modification|transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			TAAGGACAGAAGCATTATAGT	0.378													C	148756906	A	C	148756906	3	2	426	1	0	0	0	0	1	0	0	0	7270	72	3	5	315	5	HLTF	3	148756906	Missense_Mutation	SNP	A	TCGA-DU-A76L-01A-11D-A32B-08	109449331	148756906	49265524	14	42163											
SI	6476	broad.mit.edu	37	chr3	164757760	164757760	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgtatcctcataaaacCtaagaacaatgacaatgttt	15	13	5	8	1	1	2	1	1	0	1	3	2	2	2	2	0	2	3	2	0	7	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr3:164757760C>A	ENST00000264382.3	-	19	2222		c.e19-1			NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)						carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CTCATAAAACCTAAGAACAAT	0.353										HNSCC(35;0.089)			A	164757760	C	A	164757760	5	1	426	1	0	0	0	0	0	0	1	0	14391	695	24	4	3444	4	SI	3	164757760	Splice_Site	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	16000854	164757760	33264670	15	42164											
STATH	6779	broad.mit.edu	37	chr4	70865507	70865507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttcacagaaatttttgcGtagaattggaagattcggtg	11	16	10	4	2	1	3	1	0	0	3	2	4	1	4	0	2	1	1	0	2	4	7			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:70865507G>A	ENST00000246895.4	+	4	194	c.83G>A	c.(82-84)cGt>cAt	p.R28H	STATH_ENST00000381060.2_Intron	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	28			Missing (in statherin variants SV2 and SV3).		biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						AAATTTTTGCGTAGAATTGGA	0.313													A	70865507	G	A	70865507	3	1	426	1	0	0	0	0	1	0	0	0	15367	1145	40	1	93	1	STATH	4	70865507	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08		70865507	120288769	16	42165											
GPRIN3	285513	broad.mit.edu	37	chr4	90170394	90170394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgaaccttgacatctgacGctgtgctggcagcggcacct	7	11	11	12	2	1	3	0	3	1	0	1	3	1	3	2	2	3	4	2	2	1	2			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr4:90170394G>A	ENST00000609438.1	-	2	1386	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	GPRIN3_ENST00000333209.4_Missense_Mutation_p.R290C	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3											breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		GACATCTGACGCTGTGCTGGC	0.562													A	90170394	G	A	90170394	3	1	426	1	0	0	0	0	1	0	0	0	6786	1087	38	1	1466	1	GPRIN3	4	90170394	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	19304887	90170394	100983882	17	42166											
C9	735	broad.mit.edu	37	chr5	39308393	39308393	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattcagctccaacagagatTtcagagaaagccagagatac	17	7	8	9	0	2	3	2	0	0	3	3	6	3	3	2	0	4	1	2	0	4	3			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:39308393T>C	ENST00000263408.4	-	8	1274	c.1179A>G	c.(1177-1179)gaA>gaG	p.E393E		NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	393	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			CAACAGAGATTTCAGAGAAAG	0.358													C	39308393	T	C	39308393	2	2	426	1	0	0	0	0	0	0	0	1	2469	1838	64	3		3	C9	5	39308393	Silent	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08		39308393	141606867	18	42167											
PDE4D	5144	broad.mit.edu	37	chr5	59284544	59284544	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtagtgtttcctcagaggCctgaggtaataattcaagaa	13	12	10	6	0	2	3	2	1	0	2	3	3	3	3	2	2	0	3	2	2	5	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:59284544C>T	ENST00000502484.2	-	3	266	c.43G>A	c.(43-45)Gcc>Acc	p.A15T	PDE4D_ENST00000546160.1_Splice_Site_p.A15T	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	TCCTCAGAGGCCTGAGGTAAT	0.373													T	59284544	C	T	59284544	5	4	426	1	0	0	0	0	0	0	1	0	11718	753	26	2	2773	2	PDE4D	5	59284544	Splice_Site	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	19976151	59284544	121630716	19	42168											
PCDHGB3	56102	broad.mit.edu	37	chr5	140751398	140751398	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtcagagcctcggatccCgacttgggacctaatggcct	8	9	11	13	2	1	1	1	0	0	1	3	4	2	3	4	3	1	0	4	3	1	2			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr5:140751398C>T	ENST00000576222.1	+	1	1568	c.1437C>T	c.(1435-1437)ccC>ccT	p.P479P	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTCGGATCCCGACTTGGGAC	0.617													T	140751398	C	T	140751398	2	4	426	1	0	0	0	0	0	0	0	1	11640	639	23	1		1	PCDHGB3	5	140751398	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	81466854	140751398	40163862	20	42169											
ZNF391	346157	broad.mit.edu	37	chr6	27368400	27368400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaagggacatggatcccCaatatctaggaaaaactcca	16	7	7	11	0	1	0	0	0	1	0	4	3	4	3	4	3	1	0	4	3	6	2	rs766091		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:27368400C>T	ENST00000244576.4	+	3	796	c.251C>T	c.(250-252)cCa>cTa	p.P84L		NM_001076781.1	NP_001070249.1	Q9UJN7	ZN391_HUMAN	zinc finger protein 391	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(6)|lung(7)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	21						CATGGATCCCCAATATCTAGG	0.378													T	27368400	C	T	27368400	3	4	426	1	0	0	0	0	1	0	0	0	17980	594	21	2	253	2	ZNF391	6	27368400	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		27368400	143746667	21	42170											
OR5V1	81696	broad.mit.edu	37	chr6	29323500	29323500	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatgtcaacactgtatgcAccactgagttaaggaaacca	16	8	8	9	0	1	2	1	1	0	1	1	3	1	3	2	1	3	3	2	1	5	2			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:29323500A>G	ENST00000377154.1	-	4	772	c.473T>C	c.(472-474)gTg>gCg	p.V158A	OR5V1_ENST00000543825.1_Missense_Mutation_p.V158A			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CACTGTATGCACCACTGAGTT	0.443													G	29323500	A	G	29323500	3	3	426	1	0	0	0	0	1	0	0	0	11260	159	6	3	495	3	OR5V1	6	29323500	Missense_Mutation	SNP	A	TCGA-DU-A76L-01A-11D-A32B-08	1955100	29323500	141791567	22	42171											
GABRR1	2569	broad.mit.edu	37	chr6	89890145	89890145	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggccttgatgtaggagaCgcgcggcatggaggcattca	9	7	15	10	4	1	2	1	1	0	1	1	4	1	3	1	5	0	3	1	5	1	3			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:89890145C>T	ENST00000435811.1	-	8	1415	c.961G>A	c.(961-963)Gtc>Atc	p.V321I	GABRR1_ENST00000454853.2_Missense_Mutation_p.V338I|GABRR1_ENST00000369451.3_Missense_Mutation_p.V251I	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	338					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	ATGTAGGAGACGCGCGGCATG	0.537													T	89890145	C	T	89890145	3	4	426	1	0	0	0	0	1	0	0	0	6228	536	19	1	435	1	GABRR1	6	89890145	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	60566645	89890145	81224922	23	42172											
MDN1	23195	broad.mit.edu	37	chr6	90472240	90472240	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataagcttatggtccacCggtttataactgaaacagac	15	10	7	9	1	0	2	0	1	0	1	1	2	1	2	2	2	3	2	2	2	6	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr6:90472240C>T	ENST00000369393.3	-	16	2269	c.2154G>A	c.(2152-2154)ccG>ccA	p.P718P	MDN1_ENST00000428876.1_Silent_p.P718P			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	718					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		TATGGTCCACCGGTTTATAAC	0.413													T	90472240	C	T	90472240	2	4	426	1	0	0	0	0	0	0	0	1	9490	639	23	1		1	MDN1	6	90472240	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	582095	90472240	80642827	24	42173											
TRRAP	8295	broad.mit.edu	37	chr7	98530949	98530949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgatggaggggaacaCgttctgtaccacgttgcagc	8	9	14	10	2	1	1	0	1	1	0	1	3	1	3	2	4	4	4	2	4	2	3			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:98530949C>T	ENST00000359863.4	+	27	4147	c.3938C>T	c.(3937-3939)aCg>aTg	p.T1313M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T1312M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T1313M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1313					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			GAGGGGAACACGTTCTGTACC	0.587													T	98530949	C	T	98530949	3	4	426	1	0	0	0	0	1	0	0	0	16702	536	19	1	4040	1	TRRAP	7	98530949	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		98530949	60607714	25	42174											
FSCN3	29999	broad.mit.edu	37	chr7	127235509	127235509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgggtgctttctactgcGtttccaccggaacagcaagt	8	11	10	12	2	1	0	0	0	1	0	2	1	2	1	3	2	5	3	3	2	3	3	rs35505193	byFrequency	TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:127235509G>A	ENST00000265825.5	+	2	512	c.293G>A	c.(292-294)cGt>cAt	p.R98H	FSCN3_ENST00000420086.2_5'UTR|FSCN3_ENST00000478328.1_3'UTR	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	98						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TTTCTACTGCGTTTCCACCGG	0.557													A	127235509	G	A	127235509	3	1	426	1	0	0	0	0	1	0	0	0	6121	1145	40	1	299	1	FSCN3	7	127235509	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	28704560	127235509	31903154	26	42175											
RNF32	140545	broad.mit.edu	37	chr7	156437435	156437435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttcttgatcccaaaccGccgccgttgactttgggtaa	8	13	9	11	3	1	2	0	2	1	0	2	2	2	2	4	1	1	3	4	1	3	6			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr7:156437435G>A	ENST00000392741.2	+	2	346	c.258G>A	c.(256-258)ccG>ccA	p.P86P	RNF32_ENST00000432459.2_Silent_p.P86P|RNF32_ENST00000392743.2_Silent_p.P86P|RNF32_ENST00000317955.5_Silent_p.P86P|RNF32_ENST00000311822.8_Silent_p.P86P|RNF32_ENST00000405335.1_Silent_p.P86P|RNF32_ENST00000392740.1_Silent_p.P86P|RNF32_ENST00000343665.4_Silent_p.P86P|RNF32_ENST00000480011.1_3'UTR			Q9H0A6	RNF32_HUMAN	ring finger protein 32	86						aggresome|endosome	protein binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(2)	15	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00291)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		ATCCCAAACCGCCGCCGTTGA	0.343													A	156437435	G	A	156437435	2	1	426	1	0	0	0	0	0	0	0	1	13579	1074	38	1		1	RNF32	7	156437435	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	29201926	156437435	2701228	27	42176											
MTPAP	55149	broad.mit.edu	37	chr10	30602641	30602641	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgactgtttcaattgcaAacttattgcttttcttcttg	7	22	5	7	0	3	1	1	1	2	0	3	1	3	1	0	0	3	3	0	0	3	10			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:30602641A>C	ENST00000358107.4	-	10	2035	c.2036T>G	c.(2035-2037)tTt>tGt	p.F679C	MTPAP_ENST00000263063.4_Missense_Mutation_p.F549C|MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	549					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TTCAATTGCAAACTTATTGCT	0.393													C	30602641	A	C	30602641	3	2	426	1	0	0	0	0	1	0	0	0	10032	14	1	5	106	5	MTPAP	10	30602641	Missense_Mutation	SNP	A	TCGA-DU-A76L-01A-11D-A32B-08		30602641	104932106	28	42177											
PSAP	5660	broad.mit.edu	37	chr10	73579488	73579488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccggtcagtgcaggcagcCgcgtgccagagcagaggtgc	8	4	16	13	3	1	2	1	0	0	2	1	2	1	2	3	3	5	3	3	3	0	0			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:73579488C>T	ENST00000394936.3	-	10	1322	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	PSAP_ENST00000394934.1_Missense_Mutation_p.R394Q			P07602	SAP_HUMAN	prosaposin	392	Saposin B-type 3.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TGCAGGCAGCCGCGTGCCAGA	0.677													T	73579488	C	T	73579488	3	4	426	1	0	0	0	0	1	0	0	0	12728	652	23	1	419	1	PSAP	10	73579488	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	42976847	73579488	61955259	29	42178											
SEMA4G	57715	broad.mit.edu	37	chr10	102738982	102738982	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcctggatgctgaaaccTcaagccgtacacacttctat	11	9	8	13	1	2	1	1	1	1	0	2	2	2	2	3	1	5	3	3	1	4	3			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr10:102738982T>C	ENST00000210633.3	+	8	1015	c.937T>C	c.(937-939)Tca>Cca	p.S313P	MRPL43_ENST00000318325.2_3'UTR|MRPL43_ENST00000370242.4_3'UTR|SEMA4G_ENST00000519756.1_3'UTR|SEMA4G_ENST00000517724.1_Missense_Mutation_p.S313P|SEMA4G_ENST00000370250.4_Missense_Mutation_p.S313P|MRPL43_ENST00000370241.3_Intron			Q9NTN9	SEM4G_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4G	313	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Colorectal(252;0.234)		Epithelial(162;3.71e-09)|all cancers(201;2.1e-07)		TGCTGAAACCTCAAGCCGTAC	0.557													C	102738982	T	C	102738982	3	2	426	1	0	0	0	0	1	0	0	0	14129	1551	54	3	967	3	SEMA4G	10	102738982	Missense_Mutation	SNP	T	TCGA-DU-A76L-01A-11D-A32B-08	29159494	102738982	32795765	30	42179											
MRGPRE	116534	broad.mit.edu	37	chr11	3249681	3249681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcactgctccacgctgaCggccgccaggagactcaggc	8	4	13	16	3	1	2	1	1	0	1	2	3	2	2	3	4	1	3	3	4	0	0			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:3249681C>T	ENST00000389832.5	-	2	655	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	MRGPRE_ENST00000436689.2_Missense_Mutation_p.V116I|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	116						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCCACGCTGACGGCCGCCAGG	0.687													T	3249681	C	T	3249681	3	4	426	1	0	0	0	0	1	0	0	0	9840	536	19	1	593	1	MRGPRE	11	3249681	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		3249681	131756835	31	42180											
MYO7A	4647	broad.mit.edu	37	chr11	76903158	76903158	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctcccagtgcgagcagtaCgccaaggagcagggcgccca	10	4	13	14	3	1	0	0	0	1	0	2	2	1	1	3	2	4	3	3	2	2	1			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr11:76903158C>T	ENST00000409709.3	+	31	4259	c.3987C>T	c.(3985-3987)taC>taT	p.Y1329Y	MYO7A_ENST00000409619.2_Silent_p.Y1318Y|MYO7A_ENST00000458637.2_Silent_p.Y1329Y	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1329	FERM 1.				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						GCGAGCAGTACGCCAAGGAGC	0.667											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	76903158	C	T	76903158	2	4	426	1	0	0	0	0	0	0	0	1	10158	547	19	1		1	MYO7A	11	76903158	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	73653477	76903158	58103358	32	42181											
CACNA1C	775	broad.mit.edu	37	chr12	2613704	2613704	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggttctcggtgtgttgagcGggtaagctgaccgtttctat	5	15	14	7	3	2	2	0	2	2	0	3	2	2	2	1	3	2	5	1	3	2	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:2613704G>A	ENST00000399634.1	+	8	1216	c.1216G>A	c.(1216-1218)Gga>Aga	p.G406R	CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000335762.5_Intron|CACNA1C_ENST00000399606.1_Intron|CACNA1C_ENST00000399638.1_Intron|CACNA1C_ENST00000399617.1_Splice_Site_p.G406R|CACNA1C_ENST00000399595.1_Intron|CACNA1C_ENST00000399649.1_Intron|CACNA1C_ENST00000399641.1_Splice_Site_p.G406R|CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000347598.4_Intron|CACNA1C_ENST00000491104.1_3'UTR|CACNA1C_ENST00000399621.1_Intron|CACNA1C_ENST00000406454.3_Splice_Site_p.G406R|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399597.1_Intron|CACNA1C_ENST00000344100.3_Intron|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399655.1_Intron|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000402845.3_Intron|CACNA1C_ENST00000399603.1_Splice_Site_p.G406R	NM_001167625.1	NP_001161097.1	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	406			G -> R (in TS; causes a nearly complete loss of voltage-dependent channel inactivation).		axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)	TGTGTTGAGCGGGTAAGCTGA	0.537													A	2613704	G	A	2613704	5	1	426	1	0	0	0	0	0	0	1	0	2566	1130	39	1	1246	1	CACNA1C	12	2613704	Splice_Site	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08		2613704	131238191	33	42182											
TMEM132D	121256	broad.mit.edu	37	chr12	130184843	130184843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacggcagcttctccccggcGctgcggtcgtcccagtctct	3	9	11	18	5	2	0	0	0	2	0	6	0	3	0	3	3	2	3	3	3	0	1			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr12:130184843G>A	ENST00000422113.2	-	2	806	c.480C>T	c.(478-480)agC>agT	p.S160S		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	160						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		TCTCCCCGGCGCTGCGGTCGT	0.642													A	130184843	G	A	130184843	2	1	426	1	0	0	0	0	0	0	0	1	16147	1078	38	1		1	TMEM132D	12	130184843	Silent	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	127571139	130184843	3667052	34	42183											
FAM179B	23116	broad.mit.edu	37	chr14	45432836	45432836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctatataatttgttagaCgattctaacttcaaagtggt	12	17	7	5	1	2	1	1	0	1	1	2	2	2	1	0	1	2	2	0	1	6	9			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr14:45432836C>G	ENST00000361462.2	+	1	1395	c.1212C>G	c.(1210-1212)gaC>gaG	p.D404E	FAM179B_ENST00000361577.3_Missense_Mutation_p.D404E|FAM179B_ENST00000382233.2_Missense_Mutation_p.D404E			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	404							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ATTTGTTAGACGATTCTAACT	0.423													G	45432836	C	G	45432836	3	3	426	1	0	0	0	0	1	0	0	0	5551	535	19	4	1214	4	FAM179B	14	45432836	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		45432836	61916704	35	42184											
PDE8A	5151	broad.mit.edu	37	chr15	85656622	85656622	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtttccagccagagaCgacactcttccatggcccgg	9	7	9	16	2	1	1	0	0	1	1	3	3	3	1	5	2	1	1	5	2	0	2	rs141263963		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr15:85656622C>T	ENST00000310298.4	+	14	1381	c.1129C>T	c.(1129-1131)Cga>Tga	p.R377*	PDE8A_ENST00000557819.2_3'UTR|PDE8A_ENST00000557957.1_Nonsense_Mutation_p.R305*|PDE8A_ENST00000339708.5_Nonsense_Mutation_p.R331*|PDE8A_ENST00000394553.1_Nonsense_Mutation_p.R377*			O60658	PDE8A_HUMAN	phosphodiesterase 8A	377					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			CAGCCAGAGACGACACTCTTC	0.537													T	85656622	C	T	85656622	4	4	426	1	0	0	0	0	0	1	0	0	11729	528	19	1	1179	1	PDE8A	15	85656622	Nonsense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		85656622	16874770	36	42185											
PDILT	204474	broad.mit.edu	37	chr16	20396139	20396139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagctttgcccagctcttcCgccaagttcctggattgctt	6	13	8	14	1	1	0	0	0	1	0	3	1	3	1	4	1	4	4	4	1	1	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:20396139C>T	ENST00000302451.4	-	3	485	c.237G>A	c.(235-237)gcG>gcA	p.A79A		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	79					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						CCAGCTCTTCCGCCAAGTTCC	0.483													T	20396139	C	T	20396139	2	4	426	1	0	0	0	0	0	0	0	1	11750	639	23	1		1	PDILT	16	20396139	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		20396139	69958614	37	42186											
TERF2IP	54386	broad.mit.edu	37	chr16	75690356	75690356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggaggctacttccgccttCttagcgtctggtcagagagc	6	11	12	12	2	3	1	1	0	2	1	4	3	4	2	2	3	3	1	2	3	2	4			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr16:75690356C>G	ENST00000300086.4	+	3	1144	c.1047C>G	c.(1045-1047)ttC>ttG	p.F349L		NM_018975.3	NP_061848.2	Q9NYB0	TE2IP_HUMAN	telomeric repeat binding factor 2, interacting protein	349					negative regulation of DNA recombination at telomere|negative regulation of telomere maintenance|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|regulation of double-strand break repair via homologous recombination|telomere maintenance via telomerase|transcription, DNA-dependent	cytoplasm|nuclear telomere cap complex|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)	5						CTTCCGCCTTCTTAGCGTCTG	0.443													G	75690356	C	G	75690356	3	3	426	1	0	0	0	0	1	0	0	0	15863	912	32	4	1057	4	TERF2IP	16	75690356	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	55294217	75690356	14664397	38	42187											
PRPF8	10594	broad.mit.edu	37	chr17	1576707	1576707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactcctcatagctggtgcGgcacttaggcaggatgcggc	8	8	14	11	2	1	0	1	0	0	0	2	2	2	1	1	5	4	3	1	5	3	2			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:1576707G>A	ENST00000572621.1	-	22	3866	c.3601C>T	c.(3601-3603)Cgc>Tgc	p.R1201C	PRPF8_ENST00000304992.6_Missense_Mutation_p.R1201C			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1201						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TAGCTGGTGCGGCACTTAGGC	0.577													A	1576707	G	A	1576707	3	1	426	1	0	0	0	0	1	0	0	0	12661	1116	39	1	3490	1	PRPF8	17	1576707	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08		1576707	79618503	39	42188											
NLGN2	57555	broad.mit.edu	37	chr17	7320334	7320334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtggagcaaattcaacaGcaaggagaagcagtatctgc	14	7	13	7	0	2	1	1	0	1	1	2	3	2	2	0	3	5	4	0	3	5	2			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:7320334G>A	ENST00000302926.2	+	7	1797	c.1724G>A	c.(1723-1725)aGc>aAc	p.S575N	NLGN2_ENST00000575301.1_Missense_Mutation_p.S575N	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	575					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				AAATTCAACAGCAAGGAGAAG	0.597													A	7320334	G	A	7320334	3	1	426	1	0	0	0	0	1	0	0	0	10538	971	34	2	1750	2	NLGN2	17	7320334	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	5743627	7320334	73874876	40	42189											
ELAC2	60528	broad.mit.edu	37	chr17	12920190	12920190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatactcaccacttaagcccCcaacattagaccagtgcatt	13	10	4	14	0	1	1	1	0	0	1	1	1	1	1	4	0	4	1	4	0	5	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:12920190C>T	ENST00000338034.4	-	3	595	c.356G>A	c.(355-357)gGg>gAg	p.G119E	ELAC2_ENST00000395962.2_Missense_Mutation_p.G100E|ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000578071.1_Missense_Mutation_p.G119E|ELAC2_ENST00000426905.3_Missense_Mutation_p.G119E	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	119					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						ACTTAAGCCCCCAACATTAGA	0.438													T	12920190	C	T	12920190	3	4	426	1	0	0	0	0	1	0	0	0	5088	623	22	2	2212	2	ELAC2	17	12920190	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	5599856	12920190	68275020	41	42190											
CCDC144A	9720	broad.mit.edu	37	chr17	16667394	16667394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcctagagtcaccttgcGttggaaatcttaatgatagt	11	13	9	8	1	2	2	1	1	1	1	3	3	3	3	2	1	1	1	2	1	4	5			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:16667394G>A	ENST00000443444.2	+	15	4143	c.4003G>A	c.(4003-4005)Gtt>Att	p.V1335I	CCDC144A_ENST00000399273.1_Missense_Mutation_p.V1335I|CCDC144A_ENST00000456009.1_Missense_Mutation_p.V1101I|RP11-219A15.1_ENST00000448331.3_Missense_Mutation_p.V1335I|CCDC144A_ENST00000360524.8_Missense_Mutation_p.V1335I			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	1335																	GTCACCTTGCGTTGGAAATCT	0.433													A	16667394	G	A	16667394	3	1	426	1	0	0	0	0	1	0	0	0	2803	1145	40	1	4061	1	CCDC144A	17	16667394	Missense_Mutation	SNP	G	TCGA-DU-A76L-01A-11D-A32B-08	3747204	16667394	64527816	42	42191											
NF1	4763	broad.mit.edu	37	chr17	29550493	29550497	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-																															ttttttacatctgcaagaaaTtaactagtcatcaaatgctt																										TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:29550493_29550497delTTAAC	ENST00000358273.4	+	16	2136_2140	c.1753_1757delTTAAC	c.(1753-1758)ttaactfs	p.LT585fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LT585fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	585					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGCAAGAAATTAACTAGTCATCAA	0.327			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29550497	TTAAC	-	29550493	7	5	426	1	0	1	0	1	0	0	0	0	10432	1490	52	0	1876	0	NF1	17	29550493	Frame_Shift_Del	DEL	TTAAC	TCGA-DU-A76L-01A-11D-A32B-08	12883099	29550493	51644717	43	42192											
TNS4	84951	broad.mit.edu	37	chr17	38645093	38645093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcgtgtctctcgggggaCgtctctggaaaggaggaggc	6	9	17	9	3	2	0	0	0	2	0	6	4	2	4	0	6	0	1	0	6	1	1	rs140343246		TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr17:38645093C>T	ENST00000254051.6	-	3	726	c.568G>A	c.(568-570)Gtc>Atc	p.V190I		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	190	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			TCTCGGGGGACGTCTCTGGAA	0.667													T	38645093	C	T	38645093	3	4	426	1	0	0	0	0	1	0	0	0	16445	536	19	1	1623	1	TNS4	17	38645093	Missense_Mutation	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08	9094600	38645093	42550117	44	42193											
PTPRM	5797	broad.mit.edu	37	chr18	7949214	7949214	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgctcctctgaaggaaatCaaggtgaccagctcccgacg	11	7	11	12	2	2	2	1	2	1	0	4	5	4	3	3	2	2	2	3	2	3	0			TCGA-DU-A76L-01A-11D-A32B-08	TCGA-DU-A76L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cd8a995-4961-46b1-9c3d-3057adbba25b	fbcafe3c-94fb-4008-82d9-45ee3e0956ec	g.chr18:7949214C>T	ENST00000332175.8	+	6	1736	c.699C>T	c.(697-699)atC>atT	p.I233I	PTPRM_ENST00000400060.4_Silent_p.I233I|PTPRM_ENST00000444013.1_Silent_p.I20I|PTPRM_ENST00000580170.1_Silent_p.I233I|PTPRM_ENST00000400053.4_Silent_p.I171I	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	233	Ig-like C2-type.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGAAGGAAATCAAGGTGACCA	0.473													T	7949214	C	T	7949214	2	4	426	1	0	0	0	0	0	0	0	1	12894	816	29	2		2	PTPRM	18	7949214	Silent	SNP	C	TCGA-DU-A76L-01A-11D-A32B-08		7949214	70128034	45	42194											
TRIM11	81559	broad.mit.edu	37	chr1	228588830	228588830	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctgctgctcctcctcTgccagcaaacggcgaagacg	9	6	11	15	3	1	1	0	0	1	1	3	2	3	1	3	1	7	5	3	1	2	0			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr1:228588830T>A	ENST00000493030.2	-	2	3904	c.195A>T	c.(193-195)gcA>gcT	p.A65A	TRIM11_ENST00000366699.3_Silent_p.A190A|TRIM11_ENST00000460651.1_5'UTR|TRIM11_ENST00000284551.6_Silent_p.A190A			Q96F44	TRI11_HUMAN	tripartite motif containing 11	190					response to virus	cytoplasm|nucleus	protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	18		Prostate(94;0.0724)				GCTCCTCCTCTGCCAGCAAAC	0.677													A	228588830	T	A	228588830	2	1	427	1	0	0	0	0	0	0	0	1	16588	1567	55	5		5	TRIM11	1	228588830	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08		228588830	20661791	1	42195											
RRM2	6241	broad.mit.edu	37	chr2	10263519	10263519	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctcccccaacagaaaacTaaagcagctgcccccggcgt	11	7	7	16	2	1	1	0	0	1	1	2	1	1	1	4	1	5	2	4	1	5	2			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:10263519T>C	ENST00000360566.2	+	3	651	c.360T>C	c.(358-360)acT>acC	p.T120T	RRM2_ENST00000304567.5_Silent_p.T60T	NM_001165931.1	NP_001159403.1	P31350	RIR2_HUMAN	ribonucleotide reductase M2	60					deoxyribonucleoside diphosphate metabolic process|deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion|regulation of transcription involved in G1/S phase of mitotic cell cycle	cytosol	ribonucleoside-diphosphate reductase activity|transition metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|skin(1)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)|OV - Ovarian serous cystadenocarcinoma(76;0.221)		AACAGAAAACTAAAGCAGCTG	0.493													C	10263519	T	C	10263519	2	2	427	1	0	0	0	0	0	0	0	1	13773	1509	53	3		3	RRM2	2	10263519	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08		10263519	232935854	2	42196											
TMEM150A	129303	broad.mit.edu	37	chr2	85826350	85826350	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcgtagctgaaggtgccaTagaaaatgaggatatcgatg	14	9	12	6	2	0	3	0	2	0	1	2	5	0	4	1	2	2	2	1	2	6	3			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:85826350T>C	ENST00000409668.1	-	7	1132	c.665A>G	c.(664-666)tAt>tGt	p.Y222C	TMEM150A_ENST00000306353.3_Missense_Mutation_p.Y169C|TMEM150A_ENST00000334462.5_Missense_Mutation_p.Y222C			Q86TG1	T150A_HUMAN	transmembrane protein 150A	222						integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(2)|lung(1)|skin(1)	7						GAAGGTGCCATAGAAAATGAG	0.567													C	85826350	T	C	85826350	3	2	427	1	0	0	0	0	1	0	0	0	16167	1406	49	3	154	3	TMEM150A	2	85826350	Missense_Mutation	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	75562831	85826350	157373023	3	42197											
AFF3	3899	broad.mit.edu	37	chr2	100623319	100623319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaagctagggatggaggAaagttctgaacacagtgtcc	12	10	13	6	0	1	2	0	2	1	0	2	5	2	5	1	3	2	2	1	3	4	3			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:100623319A>G	ENST00000409236.2	-	5	760	c.648T>C	c.(646-648)ttT>ttC	p.F216F	AFF3_ENST00000317233.4_Silent_p.F216F|AFF3_ENST00000409579.1_Silent_p.F241F|AFF3_ENST00000356421.2_Silent_p.F241F			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GGGATGGAGGAAAGTTCTGAA	0.582													G	100623319	A	G	100623319	2	3	427	1	0	0	0	0	0	0	0	1	358	243	9	3		3	AFF3	2	100623319	Silent	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	14796969	100623319	142576054	4	42198											
TTN	7273	broad.mit.edu	37	chr2	179631139	179631139	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agagtgacagaactcctgttCcttcctgccacaaaggtgta	11	10	9	11	0	0	3	0	1	0	2	3	3	3	3	4	1	2	2	4	1	3	3			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:179631139C>A	ENST00000589042.1	-	41	9896	c.9672G>T	c.(9670-9672)agG>agT	p.R3224S	TTN-AS1_ENST00000610005.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R3178S|TTN_ENST00000460472.2_Missense_Mutation_p.R3178S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Missense_Mutation_p.R3224S|TTN_ENST00000342175.6_Missense_Mutation_p.R3178S|TTN_ENST00000591111.1_Missense_Mutation_p.R3224S|TTN_ENST00000342992.6_Missense_Mutation_p.R3224S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2957							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACTCCTGTTCCTTCCTGCCA	0.413													A	179631139	C	A	179631139	3	1	427	1	0	0	0	0	1	0	0	0	16837	854	30	4	101604	4	TTN	2	179631139	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	79007820	179631139	63568234	5	42199											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	427	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	29481973	209113112	34086261	6	42200											
TUBA4A	7277	broad.mit.edu	37	chr2	220115622	220115622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcataggtggccagggggaAgtggatgcgagggtagggca	9	6	21	5	1	0	0	0	0	0	0	0	3	0	2	1	7	2	3	1	7	3	2			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220115622A>G	ENST00000392088.2	-	4	1309	c.754T>C	c.(754-756)Ttc>Ctc	p.F252L	TUBA4A_ENST00000248437.4_Missense_Mutation_p.F267L|TUBA4A_ENST00000498660.1_5'UTR	NM_001278552.1	NP_001265481.1	P68366	TBA4A_HUMAN	tubulin, alpha 4a	267					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|platelet activation|platelet degranulation|protein polymerization	cytosol|extracellular region|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	20		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCAGGGGGAAGTGGATGCGA	0.567													G	220115622	A	G	220115622	3	3	427	1	0	0	0	0	1	0	0	0	16851	72	3	3	551	3	TUBA4A	2	220115622	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	11002510	220115622	23083751	7	42201											
TMEM198	130612	broad.mit.edu	37	chr2	220412401	220412401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggtggccatgctagtgCgcagcgtgggcctcttcctg	3	10	16	12	2	1	0	0	0	1	0	2	0	2	0	3	4	3	3	3	4	1	2	rs149628397		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr2:220412401C>T	ENST00000344458.2	+	4	925	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	TMEM198_ENST00000373883.3_Missense_Mutation_p.R114C			Q66K66	TM198_HUMAN	transmembrane protein 198	114	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CATGCTAGTGCGCAGCGTGGG	0.697													T	220412401	C	T	220412401	3	4	427	1	0	0	0	0	1	0	0	0	16219	768	27	1	346	1	TMEM198	2	220412401	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	296779	220412401	22786972	8	42202											
BFSP2	8419	broad.mit.edu	37	chr3	133119064	133119064	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagcctccaggaccaatgCcatgagtggccttgtccgag	8	7	11	15	1	0	1	0	1	0	0	2	3	2	2	7	2	2	0	7	2	1	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr3:133119064C>A	ENST00000302334.2	+	1	226	c.137C>A	c.(136-138)gCc>gAc	p.A46D		NM_003571.2	NP_003562.1	Q13515	BFSP2_HUMAN	beaded filament structural protein 2, phakinin	46	Head.				response to stimulus|visual perception	cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|urinary_tract(1)	13						AGGACCAATGCCATGAGTGGC	0.677													A	133119064	C	A	133119064	3	1	427	1	0	0	0	0	1	0	0	0	1422	739	26	4	139	4	BFSP2	3	133119064	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		133119064	64903366	9	42203											
GBA3	57733	broad.mit.edu	37	chr4	22748921	22748921	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctttttcctcctaggaAttgattattacaacaagatc	11	17	4	9	0	1	2	0	1	1	1	4	3	3	3	2	1	2	0	2	1	6	7			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr4:22748921A>G	ENST00000511446.2	+	0	293				GBA3_ENST00000508166.1_RNA|GBA3_ENST00000503442.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CCTCCTAGGAATTGATTATTA	0.328													G	22748921	A	G	22748921	1	3	427	0	1	0	0	0	0	0	0	0	6322	101	4	3		3	GBA3	4	22748921	RNA	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08		22748921	168405355	10	42204											
PELO	53918	broad.mit.edu	37	chr5	52097257	52097257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaggtacatgcctcctcCggacacaagtactccctgaa	10	10	7	14	1	1	1	0	1	1	0	4	2	4	2	4	2	3	2	4	2	5	4			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr5:52097257C>T	ENST00000274311.2	+	3	1726	c.741C>T	c.(739-741)tcC>tcT	p.S247S	ITGA1_ENST00000282588.6_Intron|ITGA1_ENST00000504086.1_Intron|PELO_ENST00000506949.1_3'UTR	NM_015946.4	NP_057030.3	Q9BRX2	PELO_HUMAN	pelota homolog (Drosophila)	247					cell cycle|cell division|translation	cytoplasm|nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	11		Lung NSC(810;4.94e-05)|Breast(144;0.0848)				ATGCCTCCTCCGGACACAAGT	0.468													T	52097257	C	T	52097257	2	4	427	1	0	0	0	0	0	0	0	1	11800	639	23	1		1	PELO	5	52097257	Silent	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		52097257	128818003	11	42205											
TIAM2	26230	broad.mit.edu	37	chr6	155465814	155465814	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcccctcggtgtgctctgTttgcagaagacagcatagtg	7	11	13	10	1	1	2	0	0	1	2	2	2	1	2	2	1	4	4	2	1	2	2			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr6:155465814T>C	ENST00000461783.3	+	8	2978	c.1705T>C	c.(1705-1707)Ttt>Ctt	p.F569L	TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000318981.5_Missense_Mutation_p.F569L|TIAM2_ENST00000360366.4_Missense_Mutation_p.F569L|TIAM2_ENST00000529824.2_Missense_Mutation_p.F569L|TIAM2_ENST00000456144.1_Missense_Mutation_p.F569L			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	569	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GTGTGCTCTGTTTGCAGAAGA	0.468													C	155465814	T	C	155465814	3	2	427	1	0	0	0	0	1	0	0	0	15991	1725	60	3	1715	3	TIAM2	6	155465814	Missense_Mutation	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08		155465814	15649253	12	42206											
GCK	2645	broad.mit.edu	37	chr7	44192978	44192978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggtctccagcctcaggcCgcggtccatctccttctgca	5	10	10	16	2	4	0	1	0	3	0	7	0	5	0	5	3	2	1	5	3	0	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:44192978C>T	ENST00000403799.3	-	2	599	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	GCK_ENST00000395796.3_Missense_Mutation_p.G43S|GCK_ENST00000437084.1_Missense_Mutation_p.G44S|GCK_ENST00000345378.2_Missense_Mutation_p.G45S	NM_000162.3	NP_000153.1	P35557	HXK4_HUMAN	glucokinase (hexokinase 4)	44					cellular response to insulin stimulus|cellular response to leptin stimulus|detection of glucose|endocrine pancreas development|glucose homeostasis|glucose transport|glycolysis|negative regulation of gluconeogenesis|positive regulation of glycogen biosynthetic process|positive regulation of insulin secretion|regulation of glucose transport|regulation of glycolysis|transmembrane transport	cytosol|nucleoplasm	ATP binding|glucokinase activity|glucose binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	37						AGCCTCAGGCCGCGGTCCATC	0.612													T	44192978	C	T	44192978	3	4	427	1	0	0	0	0	1	0	0	0	6347	652	23	1	1303	1	GCK	7	44192978	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		44192978	114945685	13	42207											
ARHGEF5	7984	broad.mit.edu	37	chr7	144060004	144060004	+	Frame_Shift_Del	DEL	A	A	-																															gatgccctcttttcccaaggAaggttctgcagatgtggagc																										TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr7:144060004delA	ENST00000056217.5	+	2	416	c.242delA	c.(241-243)gaafs	p.E81fs		NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	81					intracellular signal transduction|regulation of Rho protein signal transduction	intracellular	GTP binding|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					TTTCCCAAGGAAGGTTCTGCA	0.537													-	144060004	A	-	144060004	7	5	427	1	0	1	0	1	0	0	0	0	912	246	9	0	244	0	ARHGEF5	7	144060004	Frame_Shift_Del	DEL	A	TCGA-DU-A76O-01A-11D-A32B-08	99867026	144060004	15078659	14	42208											
ZNF503	84858	broad.mit.edu	37	chr10	77159228	77159228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagggctggagccggccGgcttactgcagcccagagac	9	4	14	14	2	0	1	0	0	0	1	0	3	0	2	4	4	4	3	4	4	2	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr10:77159228G>A	ENST00000372524.4	-	2	1706	c.1220C>T	c.(1219-1221)cCg>cTg	p.P407L	RP11-399K21.11_ENST00000418818.2_lincRNA|ZNF503_ENST00000535216.1_Missense_Mutation_p.P407L	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	407	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GGAGCCGGCCGGCTTACTGCA	0.706													A	77159228	G	A	77159228	3	1	427	1	0	0	0	0	1	0	0	0	18052	1116	39	1	724	1	ZNF503	10	77159228	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		77159228	58375519	15	42209											
ARFIP2	23647	broad.mit.edu	37	chr11	6499304	6499304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtttcacagtcatgagcGtgtcttccatggtcttggtg	6	15	11	9	1	4	1	2	1	2	0	5	1	5	1	1	2	1	1	1	2	0	3			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr11:6499304G>A	ENST00000254584.2	-	6	745	c.662C>T	c.(661-663)aCg>aTg	p.T221M	ARFIP2_ENST00000396777.3_Missense_Mutation_p.T221M|ARFIP2_ENST00000445086.2_Missense_Mutation_p.T136M|ARFIP2_ENST00000423813.2_Missense_Mutation_p.T183M	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	221	AH.				actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		AGTCATGAGCGTGTCTTCCAT	0.507													A	6499304	G	A	6499304	3	1	427	1	0	0	0	0	1	0	0	0	858	1145	40	1	375	1	ARFIP2	11	6499304	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		6499304	128507212	16	42210											
ACRBP	84519	broad.mit.edu	37	chr12	6756525	6756525	+	Frame_Shift_Del	DEL	T	T	-																															gaaggaagccagcggctggcTtcctcatggccggagaagat																										TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:6756525delT	ENST00000229243.2	-	1	101	c.8delA	c.(7-9)aagfs	p.K3fs	ACRBP_ENST00000414226.2_Frame_Shift_Del_p.K3fs|ACRBP_ENST00000536350.1_Frame_Shift_Del_p.K3fs	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	3						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						AGCGGCTGGCTTCCTCATGGC	0.672													-	6756525	T	-	6756525	7	5	427	1	0	1	0	1	0	0	0	0	170	1609	56	0	1663	0	ACRBP	12	6756525	Frame_Shift_Del	DEL	T	TCGA-DU-A76O-01A-11D-A32B-08		6756525	127095370	17	42211											
SLCO1C1	53919	broad.mit.edu	37	chr12	20870144	20870144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgccaaactatatgttgAcattggctttgtaaacctag	12	14	8	7	0	0	1	0	1	0	0	0	1	0	1	2	1	3	3	2	1	6	7	rs112098263		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:20870144A>G	ENST00000381552.1	+	7	1123	c.755A>G	c.(754-756)gAc>gGc	p.D252G	SLCO1C1_ENST00000266509.2_Missense_Mutation_p.D252G|SLCO1C1_ENST00000540354.1_Missense_Mutation_p.D203G|SLCO1C1_ENST00000545102.1_Missense_Mutation_p.D134G|SLCO1C1_ENST00000545604.1_Missense_Mutation_p.D252G			Q9NYB5	SO1C1_HUMAN	solute carrier organic anion transporter family, member 1C1	252					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			NS(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	60	Esophageal squamous(101;0.149)					CTATATGTTGACATTGGCTTT	0.348													G	20870144	A	G	20870144	3	3	427	1	0	0	0	0	1	0	0	0	14819	275	10	3	777	3	SLCO1C1	12	20870144	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	14113619	20870144	112981751	18	42212											
ABCD2	225	broad.mit.edu	37	chr12	40013106	40013106	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgcaggcagagccacccTgtttcagtggtcacaagttt	9	10	12	10	0	2	1	2	0	0	1	2	2	2	1	2	2	2	4	2	2	1	2			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:40013106T>C	ENST00000308666.3	-	1	447	c.312A>G	c.(310-312)acA>acG	p.T104T		NM_005164.3	NP_005155.1	Q9UBJ2	ABCD2_HUMAN	ATP-binding cassette, sub-family D (ALD), member 2	104	Interaction with PEX19.				fatty acid metabolic process|transport	ATP-binding cassette (ABC) transporter complex|integral to plasma membrane|peroxisomal membrane	ATP binding|ATPase activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|lung(24)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	52						AGAGCCACCCTGTTTCAGTGG	0.423													C	40013106	T	C	40013106	2	2	427	1	0	0	0	0	0	0	0	1	61	1567	55	3		3	ABCD2	12	40013106	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	19142962	40013106	93838789	19	42213											
HDAC7	51564	broad.mit.edu	37	chr12	48188621	48188621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtgctccaggccatcGtccaccacctggcccggtcc	4	8	9	20	2	0	0	0	0	0	0	5	0	4	0	8	3	1	1	8	3	0	0	rs143888162	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:48188621G>A	ENST00000080059.7	-	12	1379	c.1380C>T	c.(1378-1380)gaC>gaT	p.D460D	HDAC7_ENST00000552960.1_Silent_p.D443D|HDAC7_ENST00000380610.4_Silent_p.D477D|HDAC7_ENST00000354334.3_Silent_p.D423D|HDAC7_ENST00000427332.2_Silent_p.D421D	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	421	Transcription repression 2 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CCAGGCCATCGTCCACCACCT	0.692													A	48188621	G	A	48188621	2	1	427	1	0	0	0	0	0	0	0	1	7067	1136	40	1		1	HDAC7	12	48188621	Silent	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	8175515	48188621	85663274	20	42214											
TMPO	7112	broad.mit.edu	37	chr12	98927443	98927443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgtctctcattcactcActaccttaggtctagaagtg	8	15	7	11	0	5	1	3	0	2	1	6	1	5	1	1	1	1	1	1	1	4	5			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:98927443A>G	ENST00000266732.4	+	4	1646	c.1408A>G	c.(1408-1410)Act>Gct	p.T470A	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCATTCACTCACTACCTTAGG	0.393													G	98927443	A	G	98927443	3	3	427	1	0	0	0	0	1	0	0	0	16337	159	6	3	1422	3	TMPO	12	98927443	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	50738822	98927443	34924452	21	42215											
DNAH10	196385	broad.mit.edu	37	chr12	124267721	124267721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgacctggcagctgacccGgaaaccgttgacatcttgga	9	9	11	12	2	2	3	0	3	2	0	2	5	2	5	3	3	2	3	3	3	1	2			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr12:124267721G>A	ENST00000409039.3	+	7	751	c.726G>A	c.(724-726)ccG>ccA	p.P242P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	242	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CAGCTGACCCGGAAACCGTTG	0.478													A	124267721	G	A	124267721	2	1	427	1	0	0	0	0	0	0	0	1	4637	1103	39	1		1	DNAH10	12	124267721	Silent	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	25340278	124267721	9584174	22	42216											
SPG11	80208	broad.mit.edu	37	chr15	44951348	44951348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcaataatcatgtccactGcctgtgcaggcaagggaagt	11	10	11	9	0	2	0	2	0	0	0	3	1	3	1	2	2	2	2	2	2	4	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:44951348G>C	ENST00000261866.7	-	3	612	c.596C>G	c.(595-597)gCa>gGa	p.A199G	SPG11_ENST00000427534.2_Missense_Mutation_p.A199G|SPG11_ENST00000559193.1_Missense_Mutation_p.A199G|SPG11_ENST00000535302.2_Missense_Mutation_p.A199G|SPG11_ENST00000558319.1_Missense_Mutation_p.A199G	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	199					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CATGTCCACTGCCTGTGCAGG	0.408													C	44951348	G	C	44951348	3	2	427	1	0	0	0	0	1	0	0	0	15137	1319	46	4	6887	4	SPG11	15	44951348	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		44951348	57580044	23	42217											
SLC28A2	9153	broad.mit.edu	37	chr15	45559992	45559992	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggggtaaagctgccccgTgggtgagtccaaggaggcat	9	6	18	8	1	0	1	0	1	0	0	1	3	1	2	3	5	2	3	3	5	3	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:45559992T>C	ENST00000347644.3	+	12	1262	c.1197T>C	c.(1195-1197)cgT>cgC	p.R399R	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	399					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		AGCTGCCCCGTGGGTGAGTCC	0.547													C	45559992	T	C	45559992	2	2	427	1	0	0	0	0	0	0	0	1	14626	1683	59	3		3	SLC28A2	15	45559992	Silent	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	608644	45559992	56971400	24	42218											
SPESP1	246777	broad.mit.edu	37	chr15	69238040	69238040	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggagccaggtcgtgagaAaaaatctaactctccaaaac	15	7	10	9	1	2	1	0	1	2	1	4	3	2	2	2	3	3	0	2	3	6	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr15:69238040A>C	ENST00000310673.3	+	2	321	c.167A>C	c.(166-168)aAa>aCa	p.K56T	SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000260364.5_Intron|RP11-809H16.2_ENST00000557966.1_RNA	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	56					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						GGTCGTGAGAAAAAATCTAAC	0.378													C	69238040	A	C	69238040	3	2	427	1	0	0	0	0	1	0	0	0	15136	14	1	5	173	5	SPESP1	15	69238040	Missense_Mutation	SNP	A	TCGA-DU-A76O-01A-11D-A32B-08	23678048	69238040	33293352	25	42219											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	427	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		7577121	73618089	26	42220											
C17orf70	80233	broad.mit.edu	37	chr17	79511038	79511038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccgacatacctgcatgcGcccgacaacggcatggtgcg	8	5	14	14	5	0	0	0	0	0	0	0	2	0	0	3	3	5	2	3	3	2	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr17:79511038G>A	ENST00000537152.1	-	7	2491	c.1966C>T	c.(1966-1968)Cgc>Tgc	p.R656C	C17orf70_ENST00000327787.8_Missense_Mutation_p.R807C|C17orf70_ENST00000425898.2_Missense_Mutation_p.R456C	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	807					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			ACCTGCATGCGCCCGACAACG	0.642													A	79511038	G	A	79511038	3	1	427	1	0	0	0	0	1	0	0	0	1893	1087	38	1	238	1	C17orf70	17	79511038	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	71933917	79511038	1684172	27	42221											
CETN1	1068	broad.mit.edu	37	chr18	580584	580584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgaaggtggccatgagagCgctgggcttcgaacccagga	9	6	16	10	2	0	2	0	2	0	1	1	5	0	3	2	4	2	3	2	4	2	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr18:580584C>T	ENST00000327228.3	+	1	218	c.176C>T	c.(175-177)gCg>gTg	p.A59V		NM_004066.1	NP_004057.1	Q12798	CETN1_HUMAN	centrin, EF-hand protein, 1	59	EF-hand 1.				cell division|mitosis	spindle pole	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(2)	25						GCCATGAGAGCGCTGGGCTTC	0.552													T	580584	C	T	580584	3	4	427	1	0	0	0	0	1	0	0	0	3304	768	27	1	178	1	CETN1	18	580584	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		580584	77496664	28	42222											
SNRPD2	6633	broad.mit.edu	37	chr19	46191718	46191721	+	Frame_Shift_Del	DEL	TGAC	TGAC	-																															gagcacttgggtattgttctTgactgactgtgtgagcacag																										TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:46191718_46191721delTGAC	ENST00000342669.3	-	2	550_553	c.106_109delGTCA	c.(106-111)gtcaagfs	p.VK36fs	SNRPD2_ENST00000588301.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000587367.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000588599.1_Frame_Shift_Del_p.VK26fs|SNRPD2_ENST00000585392.1_5'UTR|SNRPD2_ENST00000590212.1_Frame_Shift_Del_p.VK36fs|SNRPD2_ENST00000391932.3_Frame_Shift_Del_p.VK26fs	NM_004597.5	NP_004588.1	P62316	SMD2_HUMAN	small nuclear ribonucleoprotein D2 polypeptide 16.5kDa	36					ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	catalytic step 2 spliceosome|cytosol|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(2)	4		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00546)|GBM - Glioblastoma multiforme(486;0.0807)|Epithelial(262;0.194)		GTATTGTTCTTGACTGACTGTGTG	0.544													-	46191721	TGAC	-	46191718	7	5	427	1	0	1	0	1	0	0	0	0	14959	1821	63	0	255	0	SNRPD2	19	46191718	Frame_Shift_Del	DEL	TGAC	TCGA-DU-A76O-01A-11D-A32B-08		46191718	12937265	29	42223											
LILRB3	11025	broad.mit.edu	37	chr19	54726381	54726381	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagatggtcacggggctccCccagctgatcacagagcctg	8	6	12	15	1	2	3	2	1	0	2	3	3	3	3	4	3	2	2	4	3	0	0			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr19:54726381C>T	ENST00000391750.1	-	4	260	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	LILRA6_ENST00000419410.2_Intron|LILRB3_ENST00000245620.9_Missense_Mutation_p.G42R|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRB3_ENST00000407860.2_Intron|LILRB3_ENST00000346401.6_Missense_Mutation_p.G42R|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000424807.1_Missense_Mutation_p.G42R			O75022	LIRB3_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 3	42	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(3)|kidney(13)|large_intestine(1)|lung(6)|ovary(2)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	34	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCTCCCCCAGCTGATC	0.602													T	54726381	C	T	54726381	3	4	427	1	0	0	0	0	1	0	0	0	8852	623	22	2	1818	2	LILRB3	19	54726381	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	8534663	54726381	4402602	30	42224											
ZFP64	55734	broad.mit.edu	37	chr20	50701439	50701439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgctgggccgcttcGtgtcgaagctgcagaagtca	7	8	14	12	3	1	1	1	0	0	1	3	2	1	1	2	2	3	5	2	2	2	1			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr20:50701439G>A	ENST00000361387.2	-	9	1655	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.T313M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGGCCGCTTCGTGTCGAAGCT	0.647													A	50701439	G	A	50701439	3	1	427	1	0	0	0	0	1	0	0	0	17753	1145	40	1	346	1	ZFP64	20	50701439	Missense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08		50701439	12324081	31	42225											
KRTAP10-5	386680	broad.mit.edu	37	chr21	46000097	46000097	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcaggaggaagaggcacagCaagttggctggcagctagac	12	4	17	8	0	0	2	0	0	0	2	0	4	0	4	0	6	2	7	0	6	3	2			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chr21:46000097C>A	ENST00000400372.1	-	1	384	c.359G>T	c.(358-360)tGc>tTc	p.C120F	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	120	22 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						AGAGGCACAGCAAGTTGGCTG	0.607													A	46000097	C	A	46000097	3	1	427	1	0	0	0	0	1	0	0	0	8570	710	25	4	460	4	KRTAP10-5	21	46000097	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		46000097	2129798	32	42226											
ATRX	546	broad.mit.edu	37	chrX	76874351	76874351	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatctaccatggtagaatCtgcacactgaccattttgaa	13	11	7	10	0	2	3	0	2	2	1	2	4	2	3	2	1	2	2	2	1	4	4			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76874351C>A	ENST00000373344.5	-	21	5585	c.5371G>T	c.(5371-5373)Gat>Tat	p.D1791Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1753Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1791					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)	ATGGTAGAATCTGCACACTGA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76874351	C	A	76874351	3	1	427	1	0	0	0	0	1	0	0	0	1213	913	32	4	2167	4	ATRX	23	76874351	Missense_Mutation	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08		76874351	78396209	33	42227											
ATRX	546	broad.mit.edu	37	chrX	76890194	76890194	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatcccacataaactgaacaCctaaaaataacagcttcatt	19	9	2	11	0	1	1	1	1	0	0	2	1	2	1	2	0	4	1	2	0	8	5			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76890194C>T	ENST00000373344.5	-	17	4914	c.4700G>A	c.(4699-4701)gGt>gAt	p.G1567D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1529D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1567					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)	AAACTGAACACCTAAAAATAA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76890194	C	T	76890194	5	4	427	1	0	0	0	0	0	0	1	0	1213	521	18	2	2854	2	ATRX	23	76890194	Splice_Site	SNP	C	TCGA-DU-A76O-01A-11D-A32B-08	15843	76890194	78380366	34	42228											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgcttcttaggaagtcGatctcttaattccatgatgg	8	16	9	8	1	2	1	0	1	2	0	5	3	3	2	1	2	2	2	1	2	3	5			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938029	G	A	76938029	4	1	427	1	0	0	0	0	0	1	0	0	1213	1066	37	1	4867	1	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-DU-A76O-01A-11D-A32B-08	47835	76938029	78332531	35	42229											
HS6ST2	90161	broad.mit.edu	37	chrX	131762930	131762930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctagattgtagggacagTccataaactctttgaggggg	10	11	14	6	0	1	2	0	1	1	1	2	3	2	3	1	4	1	2	1	4	4	5			TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:131762930T>C	ENST00000370836.2	-	4	1554	c.1139A>G	c.(1138-1140)gAc>gGc	p.D380G	HS6ST2_ENST00000370833.2_Missense_Mutation_p.D274G|HS6ST2_ENST00000406696.3_Missense_Mutation_p.D106G|HS6ST2_ENST00000521489.1_Missense_Mutation_p.D420G	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	380						integral to membrane	sulfotransferase activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GTAGGGACAGTCCATAAACTC	0.567													C	131762930	T	C	131762930	3	2	427	1	0	0	0	0	1	0	0	0	7426	1667	58	3	682	3	HS6ST2	23	131762930	Missense_Mutation	SNP	T	TCGA-DU-A76O-01A-11D-A32B-08	54824901	131762930	23507630	36	42230											
FMR1	2332	broad.mit.edu	37	chrX	147026489	147026489	+	Frame_Shift_Del	DEL	C	C	-																															acagaggaagagagggagagCttcctgcgcagaggagacgg																								rs143889976	byFrequency	TCGA-DU-A76O-01A-11D-A32B-08	TCGA-DU-A76O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a03bd35f-7f26-469d-b875-8b05b08087b3	61655cba-e339-4aa1-a454-540ab08dc5cb	g.chrX:147026489delC	ENST00000218200.8	+	14	1738	c.1509delC	c.(1507-1509)agcfs	p.S503fs	FMR1_ENST00000439526.2_Frame_Shift_Del_p.S501fs|FMR1_ENST00000370470.1_Frame_Shift_Del_p.S499fs|FMR1_ENST00000370477.1_Frame_Shift_Del_p.S491fs|FMR1_ENST00000370475.4_Frame_Shift_Del_p.S524fs|FMR1_ENST00000370471.3_Frame_Shift_Del_p.A434fs|FMR1_ENST00000440235.2_Frame_Shift_Del_p.S171fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	524	Interaction with RANBP9.				mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGGAGAGCTTCCTGCGCA	0.512									Fragile X syndrome				-	147026489	C	-	147026489	7	5	427	1	0	1	0	1	0	0	0	0	6009	797	28	0	1630	0	FMR1	23	147026489	Frame_Shift_Del	DEL	C	TCGA-DU-A76O-01A-11D-A32B-08	15263559	147026489	8244071	37	42231											
SRM	6723	broad.mit.edu	37	chr1	11115092	11115092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacttcagctgcatctgcGccacctgctgctgtgtcagc	6	11	10	14	1	3	0	2	0	1	0	3	0	3	0	2	0	7	5	2	0	1	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:11115092G>A	ENST00000376957.2	-	7	895	c.815C>T	c.(814-816)gCg>gTg	p.A272V		NM_003132.2	NP_003123.2	P19623	SPEE_HUMAN	spermidine synthase	272					spermidine biosynthetic process	cytosol	protein homodimerization activity|spermidine synthase activity			large_intestine(1)|lung(1)|urinary_tract(1)	3	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.228)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|READ - Rectum adenocarcinoma(331;0.0487)|STAD - Stomach adenocarcinoma(313;0.192)	S-Adenosylmethionine(DB00118)|Spermine(DB00127)	CTGCATCTGCGCCACCTGCTG	0.632													A	11115092	G	A	11115092	3	1	428	1	0	0	0	0	1	0	0	0	15247	1087	38	1	101	1	SRM	1	11115092	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		11115092	238135529	1	42232											
PAPPA2	60676	broad.mit.edu	37	chr1	176525894	176525894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgctgggagatgatgacGcttatctcggcaatcaaaga	12	9	12	8	2	2	4	1	2	1	2	3	5	2	4	0	2	2	4	0	2	3	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:176525894G>A	ENST00000367662.3	+	2	1600	c.436G>A	c.(436-438)Gct>Act	p.A146T	PAPPA2_ENST00000367661.3_Missense_Mutation_p.A146T	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	146					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						AGATGATGACGCTTATCTCGG	0.542													A	176525894	G	A	176525894	3	1	428	1	0	0	0	0	1	0	0	0	11509	1087	38	1	438	1	PAPPA2	1	176525894	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	165410802	176525894	72724727	2	42233											
CFHR4	10877	broad.mit.edu	37	chr1	196871561	196871561	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaagaagtgaaaccttgTgattttccagaaattcaaca	16	12	6	7	0	1	4	1	2	0	2	2	4	2	4	2	0	3	0	2	0	6	5			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:196871561T>C	ENST00000367416.2	+	2	206	c.69T>C	c.(67-69)tgT>tgC	p.C23C	CFHR4_ENST00000367418.2_Silent_p.C24C|CFHR4_ENST00000251424.4_Silent_p.C24C|CFHR4_ENST00000608469.1_Intron|CFHR2_ENST00000367421.3_Intron	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4									p.C24*(1)|p.C23*(1)		NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						TGAAACCTTGTGATTTTCCAG	0.279													C	196871561	T	C	196871561	2	2	428	1	0	0	0	0	0	0	0	1	3317	1702	59	3		3	CFHR4	1	196871561	Silent	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08	20345667	196871561	52379060	3	42234											
TRAF5	7188	broad.mit.edu	37	chr1	211526628	211526628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccctgtggtttcatccGccagaattccggcaactcca	8	11	8	14	2	1	1	1	0	0	1	4	1	4	1	5	2	2	2	5	2	3	3			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:211526628G>A	ENST00000336184.2	+	2	107	c.47G>A	c.(46-48)cGc>cAc	p.R16H	TRAF5_ENST00000367004.3_Missense_Mutation_p.R16H|TRAF5_ENST00000261464.5_Missense_Mutation_p.R16H|TRAF5_ENST00000462410.1_3'UTR|TRAF5_ENST00000427925.2_Missense_Mutation_p.R16H	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	16					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		GGTTTCATCCGCCAGAATTCC	0.483											OREG0014232	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	211526628	G	A	211526628	3	1	428	1	0	0	0	0	1	0	0	0	16545	1087	38	1	49	1	TRAF5	1	211526628	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	14655067	211526628	37723993	4	42235											
ITPKB	3707	broad.mit.edu	37	chr1	226924704	226924704	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctctgtgcctggatgtgCgcctcaaacatgcccacttt	7	11	10	13	1	2	0	1	0	1	0	2	2	2	1	3	1	5	1	3	1	1	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr1:226924704C>T	ENST00000429204.1	-	2	783	c.456G>A	c.(454-456)gcG>gcA	p.A152A	ITPKB_ENST00000366784.1_Silent_p.A152A|ITPKB_ENST00000272117.3_Silent_p.A152A	NM_002221.3	NP_002212.3	P27987	IP3KB_HUMAN	inositol-trisphosphate 3-kinase B	152							ATP binding|calmodulin binding|inositol trisphosphate 3-kinase activity	p.A152A(1)		central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(4)|prostate(1)|skin(1)	30		Prostate(94;0.0773)				CCTGGATGTGCGCCTCAAACA	0.667													T	226924704	C	T	226924704	2	4	428	1	0	0	0	0	0	0	0	1	7976	755	27	1		1	ITPKB	1	226924704	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	15398076	226924704	22325917	5	42236											
DNAH7	56171	broad.mit.edu	37	chr2	196728873	196728873	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaatgtacatgacaatacCtgaaaccagtcaatggtaca	18	9	6	8	0	1	2	1	2	0	0	1	2	1	2	2	1	4	2	2	1	8	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr2:196728873C>T	ENST00000312428.6	-	41	7606	c.7506G>A	c.(7504-7506)caG>caA	p.Q2502Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2502	AAA 4 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATGACAATACCTGAAACCAGT	0.388													T	196728873	C	T	196728873	5	4	428	1	0	0	0	0	0	0	1	0	4645	695	24	2	4668	2	DNAH7	2	196728873	Splice_Site	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		196728873	46470500	6	42237											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	428	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	12384239	209113112	34086261	7	42238											
NISCH	11188	broad.mit.edu	37	chr3	52525392	52525392	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccgatgcaggtggtcaCgtgcttgacgcgggacagct	7	7	14	13	4	1	1	1	1	0	0	1	3	1	2	2	3	3	3	2	3	0	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:52525392C>T	ENST00000345716.4	+	20	3901	c.3767C>T	c.(3766-3768)aCg>aTg	p.T1256M	NISCH_ENST00000479054.1_Missense_Mutation_p.T1256M	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1256					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CAGGTGGTCACGTGCTTGACG	0.667													T	52525392	C	T	52525392	3	4	428	1	0	0	0	0	1	0	0	0	10508	536	19	1	3845	1	NISCH	3	52525392	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		52525392	145497038	8	42239											
MYH15	22989	broad.mit.edu	37	chr3	108117645	108117645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agccacctgctccttcagatCactgttcagttgtgtgctgt	6	14	9	12	0	3	1	3	0	0	1	4	1	4	1	3	0	3	4	3	0	0	3			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:108117645C>T	ENST00000273353.3	-	36	5088	c.5032G>A	c.(5032-5034)Gat>Aat	p.D1678N		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1678						myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						TCCTTCAGATCACTGTTCAGT	0.522													T	108117645	C	T	108117645	3	4	428	1	0	0	0	0	1	0	0	0	10110	826	29	2	836	2	MYH15	3	108117645	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	55592253	108117645	89904785	9	42240											
DZIP3	9666	broad.mit.edu	37	chr3	108353774	108353774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttatttccataaaatttgCtggaaaaagttcaagaattt	15	16	6	4	0	1	1	1	0	0	1	2	2	2	2	1	1	1	3	1	1	7	7			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:108353774C>T	ENST00000361582.3	+	10	1103	c.873C>T	c.(871-873)tgC>tgT	p.C291C	DZIP3_ENST00000463306.1_Silent_p.C291C	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	291					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						ATAAAATTTGCTGGAAAAAGT	0.308													T	108353774	C	T	108353774	2	4	428	1	0	0	0	0	0	0	0	1	4904	805	28	2		2	DZIP3	3	108353774	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	236129	108353774	89668656	10	42241											
SLITRK3	22865	broad.mit.edu	37	chr3	164907773	164907773	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcagagtcagacaacaaGggacagagttctgtcttcct	12	9	9	11	0	4	3	2	0	2	3	5	4	5	4	2	1	1	1	2	1	2	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:164907773G>T	ENST00000475390.1	-	2	1289	c.846C>A	c.(844-846)ccC>ccA	p.P282P	SLITRK3_ENST00000241274.3_Silent_p.P282P			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	282	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGACAACAAGGGACAGAGTT	0.478										HNSCC(40;0.11)			T	164907773	G	T	164907773	2	4	428	1	0	0	0	0	0	0	0	1	14838	987	35	4		4	SLITRK3	3	164907773	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	56553999	164907773	33114657	11	42242											
PIK3CA	5290	broad.mit.edu	37	chr3	178916944	178916944	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaggcaaccgtgaagaaAagatcctcaatcgagaaatt	17	7	9	8	2	1	4	1	1	0	3	3	5	2	4	2	1	1	2	2	1	7	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr3:178916944A>G	ENST00000263967.3	+	2	488	c.331A>G	c.(331-333)Aag>Gag	p.K111E		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	111					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.K111E(13)|p.K111_L113delKIL(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CCGTGAAGAAAAGATCCTCAA	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916944	A	G	178916944	3	3	428	1	0	0	0	0	1	0	0	0	11990	15	1	3	333	3	PIK3CA	3	178916944	Missense_Mutation	SNP	A	TCGA-DU-A76R-01A-11D-A32B-08	14009171	178916944	19105486	12	42243											
SLC2A9	56606	broad.mit.edu	37	chr4	9998546	9998546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccttctttcccatgactcaTtgtaaaaggccttgatgtac	9	14	7	11	0	2	2	1	2	1	0	3	2	3	2	3	1	1	2	3	1	3	6			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:9998546T>C	ENST00000506583.1	-	5	399	c.182A>G	c.(181-183)aAt>aGt	p.N61S	SLC2A9_ENST00000264784.3_Missense_Mutation_p.N90S|SLC2A9_ENST00000309065.3_Missense_Mutation_p.N61S			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	90					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						CCATGACTCATTGTAAAAGGC	0.443													C	9998546	T	C	9998546	3	2	428	1	0	0	0	0	1	0	0	0	14646	1493	52	3	1393	3	SLC2A9	4	9998546	Missense_Mutation	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08		9998546	181155730	13	42244											
LARP7	51574	broad.mit.edu	37	chr4	113565994	113565994	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacaaggatagatttCttcgagaacagatagaaaaa	18	10	7	6	1	3	4	1	0	2	4	4	6	3	5	0	1	1	0	0	1	6	5			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:113565994C>A	ENST00000509061.1	+	4	493	c.190C>A	c.(190-192)Ctt>Att	p.L64I	LARP7_ENST00000344442.5_Missense_Mutation_p.L57I|LARP7_ENST00000324052.6_Missense_Mutation_p.L57I	NM_001267039.1	NP_001253968.1	Q4G0J3	LARP7_HUMAN	La ribonucleoprotein domain family, member 7	57	HTH La-type RNA-binding.				RNA processing	nucleoplasm|ribonucleoprotein complex	nucleotide binding|RNA binding			endometrium(2)|large_intestine(2)|lung(8)|ovary(4)|skin(1)	17		Ovarian(17;0.0443)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		GGATAGATTTCTTCGAGAACA	0.343													A	113565994	C	A	113565994	3	1	428	1	0	0	0	0	1	0	0	0	8692	913	32	4	171	4	LARP7	4	113565994	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	103567448	113565994	77588282	14	42245											
ARHGAP10	79658	broad.mit.edu	37	chr4	148985641	148985641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggaattatcttttgaaatagGagcaatttttgaggatggta	13	15	11	2	0	1	2	0	2	1	0	1	5	1	5	0	4	1	2	0	4	6	7			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:148985641G>A	ENST00000336498.3	+	22	2494	c.2255G>A	c.(2254-2256)gGa>gAa	p.G752E	ARHGAP10_ENST00000414545.2_Missense_Mutation_p.G350E	NM_024605.3	NP_078881.3	A1A4S6	RHG10_HUMAN	Rho GTPase activating protein 10	752	SH3.				apoptosis|filopodium assembly|regulation of apoptosis|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm|plasma membrane	cytoskeletal adaptor activity|SH3 domain binding			autonomic_ganglia(2)|endometrium(5)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	33	all_hematologic(180;0.151)	Renal(17;0.0166)		GBM - Glioblastoma multiforme(119;0.0423)		TTTGAAATAGGAGCAATTTTT	0.463													A	148985641	G	A	148985641	3	1	428	1	0	0	0	0	1	0	0	0	865	1174	41	2	2341	2	ARHGAP10	4	148985641	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	35419647	148985641	42168635	15	42246											
ASB5	140458	broad.mit.edu	37	chr4	177142621	177142621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttactggcggcctcatgcGttggggatggaagacatgac	8	10	14	9	2	1	2	1	1	0	1	1	4	1	4	1	5	2	1	1	5	2	3			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr4:177142621G>A	ENST00000296525.3	-	4	628	c.515C>T	c.(514-516)aCg>aTg	p.T172M	ASB5_ENST00000512254.1_Missense_Mutation_p.T119M	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	172					intracellular signal transduction			p.T172M(1)		endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		GGCCTCATGCGTTGGGGATGG	0.493													A	177142621	G	A	177142621	3	1	428	1	0	0	0	0	1	0	0	0	1031	1145	40	1	490	1	ASB5	4	177142621	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	28156980	177142621	14011655	16	42247											
FOXI1	2299	broad.mit.edu	37	chr5	169533422	169533422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagatctaccagtacgtggCcgacaacttccccttctaca	10	9	6	16	2	2	1	0	0	2	1	3	2	3	1	5	1	4	1	5	1	4	5			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr5:169533422C>T	ENST00000449804.2	+	1	506	c.461C>T	c.(460-462)gCc>gTc	p.A154V	FOXI1_ENST00000306268.6_Missense_Mutation_p.A154V	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	154					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CAGTACGTGGCCGACAACTTC	0.612									Pendred syndrome				T	169533422	C	T	169533422	3	4	428	1	0	0	0	0	1	0	0	0	6060	739	26	2	463	2	FOXI1	5	169533422	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		169533422	11381838	17	42248											
TAAR8	83551	broad.mit.edu	37	chr6	132874313	132874313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggattctgcctctcaCgtacagcggtgctgtgttct	4	14	11	12	2	3	0	1	0	3	0	5	1	4	1	2	2	4	3	2	2	1	3	rs140382740		TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr6:132874313C>T	ENST00000275200.1	+	1	482	c.482C>T	c.(481-483)aCg>aTg	p.T161M		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	161						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CTGCCTCTCACGTACAGCGGT	0.488													T	132874313	C	T	132874313	3	4	428	1	0	0	0	0	1	0	0	0	15590	536	19	1	484	1	TAAR8	6	132874313	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		132874313	38240754	18	42249											
SGK1	6446	broad.mit.edu	37	chr6	134491421	134491421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggttcagaggaaagagtcCgtgggaggcgcataggaaaa	14	5	17	5	2	1	2	1	0	0	2	2	5	2	5	1	5	0	2	1	5	4	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr6:134491421C>T	ENST00000367858.5	-	14	2163	c.1566G>A	c.(1564-1566)acG>acA	p.T522T	SGK1_ENST00000475719.2_Silent_p.T383T|SGK1_ENST00000237305.7_Silent_p.T427T|SGK1_ENST00000413996.3_Silent_p.T441T|SGK1_ENST00000528577.1_Silent_p.T455T|SGK1_ENST00000367857.5_Silent_p.T417T	NM_001143676.1	NP_001137148.1	O00141	SGK1_HUMAN	serum/glucocorticoid regulated kinase 1	427					apoptosis|response to stress|sodium ion transport	endoplasmic reticulum|nucleus|plasma membrane	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(21)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(4)|stomach(1)	46	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00317)|GBM - Glioblastoma multiforme(68;0.00847)		GGAAAGAGTCCGTGGGAGGCG	0.527													T	134491421	C	T	134491421	2	4	428	1	0	0	0	0	0	0	0	1	14300	639	23	1		1	SGK1	6	134491421	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	1617108	134491421	36623646	19	42250											
NCF1	653361	broad.mit.edu	37	chr7	74193659	74193659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgccagggcacacttaccGagtactgcggcacgctcatg	9	6	11	15	4	1	0	1	0	0	0	1	1	1	0	3	2	3	4	3	2	2	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:74193659G>A	ENST00000289473.4	+	4	356	c.286G>A	c.(286-288)Gag>Aag	p.E96K	NCF1_ENST00000443956.3_3'UTR	NM_000265.4	NP_000256.4	P14598	NCF1_HUMAN	neutrophil cytosolic factor 1	96	PX.				cell communication|cellular defense response|innate immune response|protein targeting to membrane|respiratory burst|superoxide anion generation	cytosol|NADPH oxidase complex|soluble fraction	electron carrier activity|GTP binding|GTPase activity|phosphatidylinositol binding|SH3 domain binding|superoxide-generating NADPH oxidase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|skin(3)	10						CACACTTACCGAGTACTGCGG	0.642													A	74193659	G	A	74193659	3	1	428	1	0	0	0	0	1	0	0	0	10292	1059	37	1	300	1	NCF1	7	74193659	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		74193659	84945004	20	42251											
GRM3	2913	broad.mit.edu	37	chr7	86415889	86415889	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctacgacagcgtgatcCgagaactgttgcagaagccc	11	7	11	12	3	0	3	0	1	0	2	2	5	2	3	3	0	5	2	3	0	3	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:86415889C>T	ENST00000361669.2	+	3	1880	c.781C>T	c.(781-783)Cga>Tga	p.R261*	AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000439827.1_Nonsense_Mutation_p.R261*|GRM3_ENST00000536043.1_Nonsense_Mutation_p.R133*|AC005009.2_ENST00000418031.1_RNA|GRM3_ENST00000394720.2_Nonsense_Mutation_p.R259*	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	261					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	CAGCGTGATCCGAGAACTGTT	0.652													T	86415889	C	T	86415889	4	4	428	1	0	0	0	0	0	1	0	0	6853	644	23	1	787	1	GRM3	7	86415889	Nonsense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	12222230	86415889	72722774	21	42252											
SAMD9	54809	broad.mit.edu	37	chr7	92733350	92733350	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttccaccatgacactttGccacctcgatagaagtcttc	11	11	6	13	1	1	2	0	1	1	1	4	3	2	2	4	0	1	1	4	0	3	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:92733350G>A	ENST00000379958.2	-	3	2330	c.2061C>T	c.(2059-2061)ggC>ggT	p.G687G		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	687						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATGACACTTTGCCACCTCGAT	0.353													A	92733350	G	A	92733350	2	1	428	1	0	0	0	0	0	0	0	1	13917	1306	46	2		2	SAMD9	7	92733350	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	6317461	92733350	66405313	22	42253											
NRCAM	4897	broad.mit.edu	37	chr7	107823282	107823282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttgccacaaccacagatGtccattcatcatcaccatct	12	11	3	15	0	4	1	3	0	1	1	5	1	5	1	4	0	2	0	4	0	1	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr7:107823282G>A	ENST00000379028.3	-	23	2857	c.2387C>T	c.(2386-2388)aCa>aTa	p.T796I	NRCAM_ENST00000351718.4_Missense_Mutation_p.T780I|NRCAM_ENST00000413765.2_Missense_Mutation_p.T777I|NRCAM_ENST00000379024.4_Missense_Mutation_p.T777I|NRCAM_ENST00000379022.4_Missense_Mutation_p.T796I|NRCAM_ENST00000425651.2_Missense_Mutation_p.T796I			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	796	Fibronectin type-III 2.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						AACCACAGATGTCCATTCATC	0.453													A	107823282	G	A	107823282	3	1	428	1	0	0	0	0	1	0	0	0	10720	1377	48	2	1601	2	NRCAM	7	107823282	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	15089932	107823282	51315381	23	42254											
EPPK1	83481	broad.mit.edu	37	chr8	144945386	144945386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagccgacagcagcttcGcgaacacatcaggcccaatg	11	5	10	15	3	2	0	2	0	0	0	3	2	2	0	2	1	4	3	2	1	2	1	rs142055364	by1000genomes	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr8:144945386G>A	ENST00000525985.1	-	2	2107	c.2036C>T	c.(2035-2037)gCg>gTg	p.A679V				P58107	EPIPL_HUMAN	epiplakin 1	679						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGCAGCTTCGCGAACACATC	0.602													A	144945386	G	A	144945386	3	1	428	1	0	0	0	0	1	0	0	0	5231	1087	38	1	5230	1	EPPK1	8	144945386	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		144945386	1418636	24	42255											
COMMD5	28991	broad.mit.edu	37	chr8	146076589	146076589	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agcaactttctgaacgtgctCctgtctaggtcccctagtag	8	12	9	12	1	2	1	0	1	2	0	4	1	4	1	3	1	4	3	3	1	5	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr8:146076589C>T	ENST00000450361.2	-	2	556	c.135G>A	c.(133-135)agG>agA	p.R45R	COMMD5_ENST00000402718.3_Silent_p.R45R|COMMD5_ENST00000305103.3_Silent_p.R45R	NM_001081003.1	NP_001074472.1	Q9GZQ3	COMD5_HUMAN	COMM domain containing 5	45						nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|ovary(1)|pancreas(1)	11	all_cancers(97;1.14e-11)|all_epithelial(106;7.74e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)			TGAACGTGCTCCTGTCTAGGT	0.607													T	146076589	C	T	146076589	2	4	428	1	0	0	0	0	0	0	0	1	3750	854	30	2		2	COMMD5	8	146076589	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	1131203	146076589	287433	25	42256											
OR13C8	138802	broad.mit.edu	37	chr9	107332225	107332225	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaccatcttcttcatgtaCgcaaagcctgagtctaaagc	12	10	8	11	1	4	1	1	1	3	0	4	2	4	2	2	1	4	2	2	1	5	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr9:107332225C>T	ENST00000335040.1	+	1	777	c.777C>T	c.(775-777)taC>taT	p.Y259Y		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TCTTCATGTACGCAAAGCCTG	0.453													T	107332225	C	T	107332225	2	4	428	1	0	0	0	0	0	0	0	1	11014	547	19	1		1	OR13C8	9	107332225	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		107332225	33881206	26	42257											
STAMBPL1	57559	broad.mit.edu	37	chr10	90673204	90673204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgccagctgctactctaaGtgctgttcagagtaagtgat	11	11	10	9	1	2	2	1	1	1	1	2	2	2	2	1	0	5	5	1	0	4	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:90673204G>A	ENST00000371927.3	+	6	1725	c.767G>A	c.(766-768)aGt>aAt	p.S256N	STAMBPL1_ENST00000371926.3_Missense_Mutation_p.S256N|STAMBPL1_ENST00000371924.1_Missense_Mutation_p.S256N|STAMBPL1_ENST00000371922.1_Missense_Mutation_p.S90N			Q96FJ0	STALP_HUMAN	STAM binding protein-like 1	256							metal ion binding|metallopeptidase activity|protein binding			breast(2)|endometrium(1)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|skin(1)	11		Colorectal(252;0.0381)		Colorectal(12;6.38e-05)|COAD - Colon adenocarcinoma(12;7.75e-05)		GCTACTCTAAGTGCTGTTCAG	0.448													A	90673204	G	A	90673204	3	1	428	1	0	0	0	0	1	0	0	0	15347	1029	36	2	785	2	STAMBPL1	10	90673204	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		90673204	44861543	27	42258											
TACC2	10579	broad.mit.edu	37	chr10	123845220	123845220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctggcgcccgccagccccGgagtcacacccacccaggat	7	3	10	21	3	1	0	1	0	0	0	1	2	1	2	7	3	1	0	7	3	0	0			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:123845220G>A	ENST00000369005.1	+	4	3545	c.3205G>A	c.(3205-3207)Gga>Aga	p.G1069R	TACC2_ENST00000515603.1_Missense_Mutation_p.G1069R|TACC2_ENST00000334433.3_Missense_Mutation_p.G1069R|TACC2_ENST00000515273.1_Missense_Mutation_p.G1069R|TACC2_ENST00000453444.2_Missense_Mutation_p.G1069R|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000358010.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1069						microtubule organizing center|nucleus	nuclear hormone receptor binding	p.G1069R(1)		NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCCAGCCCCGGAGTCACACC	0.642													A	123845220	G	A	123845220	3	1	428	1	0	0	0	0	1	0	0	0	15599	1117	39	1	3215	1	TACC2	10	123845220	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	33172016	123845220	11689527	28	42259											
CHST15	51363	broad.mit.edu	37	chr10	125804102	125804102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacccagcactcaccaaagcGcttccgggtccaccagtgtg	9	6	10	16	2	1	0	1	0	0	0	3	1	3	0	5	1	2	2	5	1	1	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr10:125804102G>A	ENST00000346248.5	-	3	1522	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C	CHST15_ENST00000435907.1_Missense_Mutation_p.R294C|CHST15_ENST00000421115.1_Missense_Mutation_p.R294C	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	294					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCACCAAAGCGCTTCCGGGTC	0.637													A	125804102	G	A	125804102	3	1	428	1	0	0	0	0	1	0	0	0	3433	1087	38	1	829	1	CHST15	10	125804102	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	1958882	125804102	9730645	29	42260											
AHNAK	79026	broad.mit.edu	37	chr11	62298554	62298554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggccttccacatctggtGctttaatatctaccttggga	7	15	8	11	0	2	0	0	0	2	0	3	1	3	1	3	3	2	1	3	3	3	7			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr11:62298554G>A	ENST00000378024.4	-	5	3609	c.3335C>T	c.(3334-3336)gCa>gTa	p.A1112V	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1112					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CACATCTGGTGCTTTAATATC	0.488													A	62298554	G	A	62298554	3	1	428	1	0	0	0	0	1	0	0	0	414	1319	46	2	14457	2	AHNAK	11	62298554	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		62298554	72707962	30	42261											
TMEM45B	120224	broad.mit.edu	37	chr11	129722502	129722502	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaacagcccactacattactAtcagcgtctcgagatcgtcg	11	9	8	13	4	2	1	1	0	1	1	5	3	2	1	1	0	5	0	1	0	4	3			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr11:129722502A>C	ENST00000281441.3	+	2	213	c.125A>C	c.(124-126)tAt>tCt	p.Y42S	TMEM45B_ENST00000524567.1_Missense_Mutation_p.Y42S	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	42						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTACATTACTATCAGCGTCTC	0.498													C	129722502	A	C	129722502	3	2	428	1	0	0	0	0	1	0	0	0	16270	449	16	5	127	5	TMEM45B	11	129722502	Missense_Mutation	SNP	A	TCGA-DU-A76R-01A-11D-A32B-08	67423948	129722502	5284014	31	42262											
CLEC1B	51266	broad.mit.edu	37	chr12	10145811	10145811	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaataatgtttgttctcacaGaaggtagggtgcattttccc	11	14	9	7	0	1	1	1	0	1	1	3	1	2	1	1	2	1	4	1	2	4	6			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:10145811G>A	ENST00000428126.2	-	7	791	c.522C>T	c.(520-522)ttC>ttT	p.F174F	CLEC1B_ENST00000348658.4_Silent_p.F174F|CLEC1B_ENST00000298527.6_Silent_p.F207F			Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	207	C-type lectin.				cell surface receptor linked signaling pathway|defense response	integral to plasma membrane	protein binding|sugar binding|transmembrane receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TGTTCTCACAGAAGGTAGGGT	0.378													A	10145811	G	A	10145811	2	1	428	1	0	0	0	0	0	0	0	1	3537	933	33	2		2	CLEC1B	12	10145811	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		10145811	123706084	32	42263											
SOX5	6660	broad.mit.edu	37	chr12	23716299	23716299	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatttgccgagcttcttGgattgccttggtgacagcat	6	15	10	10	1	2	1	1	1	1	0	2	3	2	2	2	2	4	2	2	2	0	6			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:23716299G>C	ENST00000546136.1	-	10	1344	c.1342C>G	c.(1342-1344)Caa>Gaa	p.Q448E	SOX5_ENST00000309359.1_Missense_Mutation_p.Q448E|SOX5_ENST00000541536.1_Intron|SOX5_ENST00000396007.2_Missense_Mutation_p.Q75E|SOX5_ENST00000537393.1_Missense_Mutation_p.Q426E|SOX5_ENST00000451604.2_Missense_Mutation_p.Q461E|SOX5_ENST00000545921.1_Missense_Mutation_p.Q451E|SOX5_ENST00000381381.2_Intron			P35711	SOX5_HUMAN	SRY (sex determining region Y)-box 5	461					transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(25)|ovary(5)|skin(2)|upper_aerodigestive_tract(3)	57						CGAGCTTCTTGGATTGCCTTG	0.448													C	23716299	G	C	23716299	3	2	428	1	0	0	0	0	1	0	0	0	15048	1357	47	4	930	4	SOX5	12	23716299	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	13570488	23716299	110135596	33	42264											
PRPF40B	25766	broad.mit.edu	37	chr12	50035727	50035727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggaggtgaacacggcctttGaggacttcgcccacgtcata	9	9	12	11	3	1	2	1	2	0	0	2	4	1	4	2	4	1	0	2	4	2	3			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:50035727G>A	ENST00000261897.1	+	18	2250	c.1699G>A	c.(1699-1701)Gag>Aag	p.E567K	PRPF40B_ENST00000380281.1_Missense_Mutation_p.E580K|FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000548825.2_Missense_Mutation_p.E602K			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	580					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CACGGCCTTTGAGGACTTCGC	0.617													A	50035727	G	A	50035727	3	1	428	1	0	0	0	0	1	0	0	0	12658	1291	45	2	1808	2	PRPF40B	12	50035727	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	26319428	50035727	83816168	34	42265											
OS9	10956	broad.mit.edu	37	chr12	58087892	58087892	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgatgggcgtgttgaggccGctgcctggcttagggcggaa	5	8	18	10	4	0	1	0	1	0	0	0	3	0	2	3	5	1	3	3	5	2	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr12:58087892G>A	ENST00000552285.1	+	0	155							Q13438	OS9_HUMAN	osteosarcoma amplified 9, endoplasmic reticulum lectin						ER-associated protein catabolic process|protein retention in ER lumen|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to endoplasmic reticulum stress	endoplasmic reticulum lumen|Hrd1p ubiquitin ligase complex	glycoprotein binding|protein binding|sugar binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	21	all_neural(12;0.00548)|Glioma(12;0.0126)|Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			TGTTGAGGCCGCTGCCTGGCT	0.532											OREG0021950	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	58087892	G	A	58087892	1	1	428	1	0	0	0	0	0	0	0	0	11348	1102	38	1		1	OS9	12	58087892	Translation_Start_Site	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	8052165	58087892	75764003	35	42266											
KTN1	3895	broad.mit.edu	37	chr14	56084854	56084854	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagaccgaaactgacaaaggTaatatatgggatttatagtc	17	10	9	5	1	0	2	0	1	0	1	1	4	0	3	1	2	1	1	1	2	8	6			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr14:56084854T>C	ENST00000416613.1	+	3	904		c.e3+2		KTN1_ENST00000395314.3_Splice_Site|KTN1_ENST00000413890.2_Splice_Site|KTN1_ENST00000438792.2_Splice_Site|KTN1_ENST00000395308.1_Splice_Site|KTN1_ENST00000395311.1_Splice_Site|KTN1_ENST00000395309.3_Splice_Site			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)						microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		p.?(1)		breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CTGACAAAGGTAATATATGGG	0.338			T	RET	papillary thryoid								C	56084854	T	C	56084854	5	2	428	1	0	0	0	0	0	0	1	0	8644	1652	57	3	844	3	KTN1	14	56084854	Splice_Site	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08		56084854	51264686	36	42267											
SPTBN5	51332	broad.mit.edu	37	chr15	42153664	42153664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccttgctgcaaagccaacGttccatcttctccactgagc	8	12	6	15	1	2	1	0	1	2	0	5	1	4	1	4	0	5	3	4	0	2	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:42153664G>A	ENST00000320955.6	-	46	7995	c.7768C>T	c.(7768-7770)Cgt>Tgt	p.R2590C		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	2590					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		CAAAGCCAACGTTCCATCTTC	0.547													A	42153664	G	A	42153664	3	1	428	1	0	0	0	0	1	0	0	0	15218	1145	40	1	3348	1	SPTBN5	15	42153664	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		42153664	60377728	37	42268											
TRPM7	54822	broad.mit.edu	37	chr15	50905958	50905958	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttatgcctcattttttcCtttttatctgccctattgcc	4	21	5	11	0	2	0	1	0	1	0	3	0	3	0	4	1	3	1	4	1	3	9			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:50905958C>T	ENST00000313478.7	-	15	1997	c.1716G>A	c.(1714-1716)aaG>aaA	p.K572K	TRPM7_ENST00000560955.1_Silent_p.K572K	NM_017672.4	NP_060142.3	Q96QT4	TRPM7_HUMAN	transient receptor potential cation channel, subfamily M, member 7	572					cell death	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(17)|lung(13)|ovary(4)|pancreas(1)|skin(4)|stomach(3)	52				all cancers(107;0.000819)|GBM - Glioblastoma multiforme(94;0.0045)		TCATTTTTTCCTTTTTATCTG	0.368													T	50905958	C	T	50905958	2	4	428	1	0	0	0	0	0	0	0	1	16692	680	24	2		2	TRPM7	15	50905958	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	8752294	50905958	51625434	38	42269											
WDR72	256764	broad.mit.edu	37	chr15	53908182	53908182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaataggcttggctagtgCctctgctgaaagaggaccac	11	9	12	9	0	1	2	0	1	1	1	1	3	1	3	2	3	2	4	2	3	4	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:53908182C>T	ENST00000396328.1	-	15	2460	c.2221G>A	c.(2221-2223)Gca>Aca	p.A741T	WDR72_ENST00000557913.1_Missense_Mutation_p.A738T|WDR72_ENST00000360509.5_Missense_Mutation_p.A741T|WDR72_ENST00000559418.1_Missense_Mutation_p.A751T	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	741										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TTGGCTAGTGCCTCTGCTGAA	0.443													T	53908182	C	T	53908182	3	4	428	1	0	0	0	0	1	0	0	0	17424	739	26	2	1111	2	WDR72	15	53908182	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	3002224	53908182	48623210	39	42270											
RASGRF1	5923	broad.mit.edu	37	chr15	79292184	79292184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggcggccgacaaggCactgcggttattgtccagtt	8	8	15	10	3	0	1	0	0	0	1	1	2	1	1	2	5	1	4	2	5	2	3			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr15:79292184C>T	ENST00000419573.3	-	18	2969	c.2695G>A	c.(2695-2697)Gcc>Acc	p.A899T	RASGRF1_ENST00000558480.2_Missense_Mutation_p.A883T|RASGRF1_ENST00000394745.3_Missense_Mutation_p.A115T|RASGRF1_ENST00000560334.1_5'UTR	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	901					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCGACAAGGCACTGCGGTTA	0.572													T	79292184	C	T	79292184	3	4	428	1	0	0	0	0	1	0	0	0	13160	710	25	2	1170	2	RASGRF1	15	79292184	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	25384002	79292184	23239208	40	42271											
IFT140	9742	broad.mit.edu	37	chr16	1614053	1614053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagactgaggctgggagCgcggcgtctcctgcacggct	5	8	16	12	4	1	2	0	1	1	1	2	3	1	3	1	4	3	4	1	4	0	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr16:1614053C>T	ENST00000426508.2	-	17	2375	c.2012G>A	c.(2011-2013)cGc>cAc	p.R671H	IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	671										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				AGGCTGGGAGCGCGGCGTCTC	0.582													T	1614053	C	T	1614053	3	4	428	1	0	0	0	0	1	0	0	0	7614	768	27	1	2436	1	IFT140	16	1614053	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		1614053	88740700	41	42272											
TRIM72	493829	broad.mit.edu	37	chr16	31230715	31230715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgcgaggcagagcgtgtaCggggtgaggcaggggtcgcc	7	4	20	10	5	0	2	0	1	0	1	1	3	0	2	2	6	2	3	2	6	1	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr16:31230715C>T	ENST00000322122.3	+	4	876	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	198					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						AGAGCGTGTACGGGGTGAGGC	0.682													T	31230715	C	T	31230715	3	4	428	1	0	0	0	0	1	0	0	0	16646	527	19	1	602	1	TRIM72	16	31230715	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	29616662	31230715	59124038	42	42273											
KDM6B	23135	broad.mit.edu	37	chr17	7750173	7750173	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccactgcctccaccaCcattaccaccaccaccacca	10	5	4	22	0	0	0	0	0	0	0	1	0	1	0	10	1	3	1	10	1	1	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:7750173C>G	ENST00000254846.5	+	9	1137	c.748C>G	c.(748-750)Cca>Gca	p.P250A	KDM6B_ENST00000448097.2_Missense_Mutation_p.P250A	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	250	Pro-rich.				inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						gcctccaccaccattaccacc	0.622													G	7750173	C	G	7750173	3	3	428	1	0	0	0	0	1	0	0	0	8196	507	18	4	770	4	KDM6B	17	7750173	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		7750173	73445037	43	42274											
MYH2	4620	broad.mit.edu	37	chr17	10432210	10432210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctccaggtccctgcGcattttctggaactcagcct	5	11	9	16	1	2	0	1	0	1	0	5	1	5	1	5	3	3	1	5	3	1	2			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:10432210G>A	ENST00000245503.5	-	27	3925	c.3541C>T	c.(3541-3543)Cgc>Tgc	p.R1181C	MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1181C|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1181					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						AGGTCCCTGCGCATTTTCTGG	0.592													A	10432210	G	A	10432210	3	1	428	1	0	0	0	0	1	0	0	0	10111	1087	38	1	2340	1	MYH2	17	10432210	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	2682037	10432210	70763000	44	42275											
CCL16	6360	broad.mit.edu	37	chr17	34304693	34304693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	taggcagcaaaggtaggttgGgatccttgatgtactcttgg	9	12	14	6	0	1	1	0	1	1	0	2	2	2	2	1	5	2	5	1	5	4	6			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:34304693G>A	ENST00000293275.3	-	3	347	c.272C>T	c.(271-273)cCc>cTc	p.P91L		NM_004590.2	NP_004581.1	O15467	CCL16_HUMAN	chemokine (C-C motif) ligand 16	91					cell-cell signaling|immune response|inflammatory response	extracellular space	chemoattractant activity|chemokine activity			endometrium(1)|lung(2)	3		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGTAGGTTGGGATCCTTGAT	0.507													A	34304693	G	A	34304693	3	1	428	1	0	0	0	0	1	0	0	0	2915	1232	43	2	94	2	CCL16	17	34304693	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	23872483	34304693	46890517	45	42276											
WFIKKN2	124857	broad.mit.edu	37	chr17	48918243	48918243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgccgctcatcatcatggggGaggtggacggcggcatggcc	6	7	17	11	3	3	0	3	0	0	0	3	2	3	2	2	7	1	2	2	7	0	0			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:48918243G>A	ENST00000311378.4	+	2	2122	c.1594G>A	c.(1594-1596)Gag>Aag	p.E532K	WFIKKN2_ENST00000426127.1_Missense_Mutation_p.E439K|RP11-506D12.5_ENST00000572491.2_RNA	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	532	NTR.					extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CATCATGGGGGAGGTGGACGG	0.642													A	48918243	G	A	48918243	3	1	428	1	0	0	0	0	1	0	0	0	17461	1175	41	2	1600	2	WFIKKN2	17	48918243	Missense_Mutation	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08	14613550	48918243	32276967	46	42277											
CLTC	1213	broad.mit.edu	37	chr17	57744174	57744174	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagtggttagtcaactactTtggttccttatcagtagaag	10	15	10	6	0	2	1	2	0	0	1	3	1	3	1	1	2	2	4	1	2	7	7			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr17:57744174T>G	ENST00000269122.3	+	13	2238	c.1964T>G	c.(1963-1965)tTt>tGt	p.F655C	CLTC_ENST00000393043.1_Missense_Mutation_p.F655C|CLTC_ENST00000579456.1_Intron	NM_004859.3	NP_004850.1	Q00610	CLH1_HUMAN	clathrin, heavy chain (Hc)	655	Heavy chain arm.|Proximal segment.				axon guidance|epidermal growth factor receptor signaling pathway|intracellular protein transport|mitosis|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport|receptor internalization|transferrin transport	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|cytosol|melanosome|spindle	protein binding|structural molecule activity		CLTC/ALK(44)|CLTC/TFE3(2)	breast(2)|large_intestine(6)|ovary(1)	9	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)					GTCAACTACTTTGGTTCCTTA	0.363			T	"ALK, TFE3"	"ALCL, renal "								G	57744174	T	G	57744174	3	3	428	1	0	0	0	0	1	0	0	0	3597	1841	64	5	2014	5	CLTC	17	57744174	Missense_Mutation	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08	8825931	57744174	23451036	47	42278											
CCDC68	80323	broad.mit.edu	37	chr18	52602091	52602091	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctccaattctgtaattTgactgtgtttttcttcaagt	7	20	7	7	0	4	1	1	1	3	0	5	1	4	1	1	1	0	3	1	1	3	7			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr18:52602091T>C	ENST00000591504.1	-	7	834	c.560A>G	c.(559-561)cAa>cGa	p.Q187R	CCDC68_ENST00000337363.4_Missense_Mutation_p.Q187R|CCDC68_ENST00000432185.1_Missense_Mutation_p.Q187R	NM_025214.2	NP_079490.1	Q9H2F9	CCD68_HUMAN	coiled-coil domain containing 68	187										breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)|stomach(1)	14				Colorectal(16;0.0256)|READ - Rectum adenocarcinoma(59;0.21)		TTCTGTAATTTGACTGTGTTT	0.353													C	52602091	T	C	52602091	3	2	428	1	0	0	0	0	1	0	0	0	2868	1812	63	3	471	3	CCDC68	18	52602091	Missense_Mutation	SNP	T	TCGA-DU-A76R-01A-11D-A32B-08		52602091	25475157	48	42279											
ZNF563	147837	broad.mit.edu	37	chr19	12430201	12430201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgagttctttcatgcataCgtaataaactgggccaaaaa	14	12	8	7	1	2	1	1	1	1	0	2	1	2	1	1	1	3	3	1	1	6	5	rs113773973	byFrequency	TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr19:12430201C>T	ENST00000293725.5	-	4	843	c.638G>A	c.(637-639)cGt>cAt	p.R213H	ZNF563_ENST00000595977.1_Intron	NM_145276.2	NP_660319.1	Q8TA94	ZN563_HUMAN	zinc finger protein 563	213					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						TTCATGCATACGTAATAAACT	0.393													T	12430201	C	T	12430201	3	4	428	1	0	0	0	0	1	0	0	0	18095	536	19	1	796	1	ZNF563	19	12430201	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08		12430201	46698782	49	42280											
ZNF574	64763	broad.mit.edu	37	chr19	42584408	42584408	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacaggagagcggccCtaccggtgtggggactgtgg	9	5	16	11	2	0	1	0	0	0	1	0	3	0	2	2	6	2	0	2	6	1	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr19:42584408C>G	ENST00000600245.1	+	2	2305	c.1650C>G	c.(1648-1650)ccC>ccG	p.P550P	ZNF574_ENST00000222339.7_Silent_p.P640P|ZNF574_ENST00000359044.4_Silent_p.P550P			Q6ZN55	ZN574_HUMAN	zinc finger protein 574	550					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20		Prostate(69;0.059)				GAGAGCGGCCCTACCGGTGTG	0.647													G	42584408	C	G	42584408	2	3	428	1	0	0	0	0	0	0	0	1	18107	668	24	4		4	ZNF574	19	42584408	Silent	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	30154207	42584408	16544575	50	42281											
LRRN4	164312	broad.mit.edu	37	chr20	6033401	6033401	+	Frame_Shift_Del	DEL	G	G	-																															tggggagggtctgcccagctGgggcgcagcaccgtcagcag																										TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr20:6033401delG	ENST00000378858.4	-	2	269	c.45delC	c.(43-45)cccfs	p.P15fs		NM_152611.4	NP_689824.2	Q8WUT4	LRRN4_HUMAN	leucine rich repeat neuronal 4	15						integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	27						CTGCCCAGCTGGGGCGCAGCA	0.682													-	6033401	G	-	6033401	7	5	428	1	0	1	0	1	0	0	0	0	9107	1335	47	0	2193	0	LRRN4	20	6033401	Frame_Shift_Del	DEL	G	TCGA-DU-A76R-01A-11D-A32B-08		6033401	56992119	51	42282											
PLCB1	23236	broad.mit.edu	37	chr20	8678347	8678347	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggttgtcgctgtgtggagCtggactgctggaagggacgg	5	10	19	7	2	0	0	0	0	0	0	1	4	0	4	0	6	2	4	0	6	1	1			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chr20:8678347C>A	ENST00000378641.3	+	11	1559	c.1084C>A	c.(1084-1086)Ctg>Atg	p.L362M	PLCB1_ENST00000338037.6_Missense_Mutation_p.L362M|PLCB1_ENST00000378637.2_Missense_Mutation_p.L362M	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	362	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						CTGTGTGGAGCTGGACTGCTG	0.483													A	8678347	C	A	8678347	3	1	428	1	0	0	0	0	1	0	0	0	12104	796	28	4	1126	4	PLCB1	20	8678347	Missense_Mutation	SNP	C	TCGA-DU-A76R-01A-11D-A32B-08	2644946	8678347	54347173	52	42283											
GPR174	84636	broad.mit.edu	37	chrX	78427140	78427140	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaagacggttttatcactGcaagataaatatcccatggc	13	11	9	8	1	1	2	1	0	0	2	2	3	2	3	1	3	1	2	1	3	6	4			TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chrX:78427140G>A	ENST00000276077.1	+	1	672	c.636G>A	c.(634-636)ctG>ctA	p.L212L		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	212						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						TTTTATCACTGCAAGATAAAT	0.438										HNSCC(63;0.18)			A	78427140	G	A	78427140	2	1	428	1	0	0	0	0	0	0	0	1	6726	1306	46	2		2	GPR174	23	78427140	Silent	SNP	G	TCGA-DU-A76R-01A-11D-A32B-08		78427140	76843420	53	42284											
HDX	139324	broad.mit.edu	37	chrX	83730327	83730331	+	Frame_Shift_Del	DEL	TTTGA	TTTGA	-																															gagctgaaagcaatttttacTttgatttgtcattccatttt																										TCGA-DU-A76R-01A-11D-A32B-08	TCGA-DU-A76R-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fd703fa-227d-40f8-962b-53c746b2c372	43476bb5-3d68-4d0c-9e1a-2937705a654b	g.chrX:83730327_83730331delTTTGA	ENST00000297977.5	-	2	186_190	c.75_79delTCAAA	c.(73-81)aatcaaagtfs	p.NQS25fs	HDX_ENST00000506585.2_Intron|HDX_ENST00000373177.2_Frame_Shift_Del_p.NQS25fs	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	25						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CAATTTTTACTTTGATTTGTCATTC	0.327													-	83730331	TTTGA	-	83730327	7	5	428	1	0	1	0	1	0	0	0	0	7081	1609	56	0	2029	0	HDX	23	83730327	Frame_Shift_Del	DEL	TTTGA	TCGA-DU-A76R-01A-11D-A32B-08	5303187	83730327	71540233	54	42285											
CELSR2	1952	broad.mit.edu	37	chr1	109792762	109792762	+	Silent	SNP	T	T	C																															cgccgccgctgctgctgctgTtgctgctgctgctgccgccg																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:109792762T>C	ENST00000271332.3	+	1	122	c.61T>C	c.(61-63)Ttg>Ctg	p.L21L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	21					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgctgttgctgctgct	0.746													C	109792762	T	C	109792762	2	2	429	1	0	0	0	0	0	0	0	1	3252	1722	60	3		3	CELSR2	1	109792762	Silent	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08		109792762	139457859	1	42286	137	2									
CELSR2	1952	broad.mit.edu	37	chr1	109792765	109792765	+	Silent	SNP	C	C	T																															cgccgctgctgctgctgttgCtgctgctgctgccgccgcca																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:109792765C>T	ENST00000271332.3	+	1	125	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	22					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		gctgctgttgctgctgctgct	0.746													T	109792765	C	T	109792765	2	4	429	1	0	0	0	0	0	0	0	1	3252	796	28	2		2	CELSR2	1	109792765	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3	109792765	139457856	2	42287	137	2									
TRIM33	51592	broad.mit.edu	37	chr1	114964058	114964058	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcaactcaaatacaaacCtgtatgggtggaatatctgg	14	11	8	8	0	3	0	2	0	1	0	3	1	3	1	1	3	3	1	1	3	7	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:114964058C>A	ENST00000358465.2	-	11	2144	c.2061G>T	c.(2059-2061)caG>caT	p.Q687H	TRIM33_ENST00000450349.2_Splice_Site_p.Q295H|TRIM33_ENST00000369543.2_Splice_Site_p.Q687H	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	687					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAATACAAACCTGTATGGGTG	0.378			T	RET	papillary thyroid								A	114964058	C	A	114964058	5	1	429	1	0	0	0	0	0	0	1	0	16608	695	24	4	1362	4	TRIM33	1	114964058	Splice_Site	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	5171293	114964058	134286563	3	42288											
ZNF687	57592	broad.mit.edu	37	chr1	151262420	151262420	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggctggacctgtggcctGtgtcactcctggttccctga	4	11	14	12	0	1	1	1	1	0	0	3	3	3	3	4	5	0	2	4	5	0	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:151262420G>C	ENST00000368879.2	+	6	2999	c.2901G>C	c.(2899-2901)ctG>ctC	p.L967L		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	967					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			CCTGTGGCCTGTGTCACTCCT	0.662													C	151262420	G	C	151262420	2	2	429	1	0	0	0	0	0	0	0	1	18193	1364	48	4		4	ZNF687	1	151262420	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	36298362	151262420	97988201	4	42289											
LEFTY2	7044	broad.mit.edu	37	chr1	226127198	226127198	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccctctgcaccgacacCtgtagcagcagcggctgccg	6	7	11	17	3	1	0	0	0	1	0	2	1	2	0	4	1	6	6	4	1	1	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:226127198C>G	ENST00000366820.5	-	3	948	c.600G>C	c.(598-600)caG>caC	p.Q200H	LEFTY2_ENST00000474493.1_5'UTR|LEFTY2_ENST00000420304.2_Missense_Mutation_p.Q166H	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	200					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GCACCGACACCTGTAGCAGCA	0.716													G	226127198	C	G	226127198	3	3	429	1	0	0	0	0	1	0	0	0	8775	680	24	4	508	4	LEFTY2	1	226127198	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	74864778	226127198	23123423	5	42290											
WNT9A	7483	broad.mit.edu	37	chr1	228113078	228113078	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacggcctccaccagcgtctCtgccacgcccgggtcccggc	4	5	11	21	5	1	0	0	0	1	0	4	0	3	0	6	3	2	0	6	3	0	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:228113078C>G	ENST00000272164.5	-	2	248	c.238G>C	c.(238-240)Gag>Cag	p.E80Q		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	80					anterior/posterior pattern formation|axis specification|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|cornea development in camera-type eye|embryonic arm morphogenesis|embryonic skeletal joint morphogenesis|endoderm development|iris morphogenesis|mitotic cell cycle G1/S transition checkpoint|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|neuron differentiation|positive regulation of smoothened signaling pathway|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				ACCAGCGTCTCTGCCACGCCC	0.701													G	228113078	C	G	228113078	3	3	429	1	0	0	0	0	1	0	0	0	17500	922	32	4	871	4	WNT9A	1	228113078	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	1985880	228113078	21137543	6	42291											
ZP4	57829	broad.mit.edu	37	chr1	238049138	238049138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtgaaaacctggacattGattgggagagagttgctact	13	10	13	5	0	0	4	0	2	0	2	0	7	0	6	1	2	3	2	1	2	3	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr1:238049138G>A	ENST00000366570.4	-	7	1046	c.888C>T	c.(886-888)atC>atT	p.I296I	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	296	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity	p.I296I(1)		breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			CCTGGACATTGATTGGGAGAG	0.512													A	238049138	G	A	238049138	2	1	429	1	0	0	0	0	0	0	0	1	18317	1280	45	2		2	ZP4	1	238049138	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	9936060	238049138	11201483	7	42292											
MBOAT2	129642	broad.mit.edu	37	chr2	8998901	8998901	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgttctgtcccaaagaatTttctccttcatcaaactttt	10	17	3	11	0	4	1	2	0	2	1	6	1	5	1	2	0	1	1	2	0	3	6			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:8998901T>A	ENST00000305997.3	-	13	1669	c.1471A>T	c.(1471-1473)Aat>Tat	p.N491Y		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	491					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCCAAAGAATTTTCTCCTTCA	0.348													A	8998901	T	A	8998901	3	1	429	1	0	0	0	0	1	0	0	0	9432	1841	64	5	95	5	MBOAT2	2	8998901	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08		8998901	234200472	8	42293											
TAF1B	9014	broad.mit.edu	37	chr2	10008510	10008510	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagcggagtctcagtctGacatccacactcgaaaacct	11	8	10	12	2	2	1	1	1	2	0	5	4	3	3	2	2	2	0	2	2	2	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:10008510G>A	ENST00000263663.5	+	6	693	c.505G>A	c.(505-507)Gac>Aac	p.D169N	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	169					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					GTCTCAGTCTGACATCCACAC	0.438													A	10008510	G	A	10008510	3	1	429	1	0	0	0	0	1	0	0	0	15617	1290	45	2	527	2	TAF1B	2	10008510	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	1009609	10008510	233190863	9	42294											
GDF7	151449	broad.mit.edu	37	chr2	20870684	20870684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gagagcttattccgggagatCcgcgcccaggcccgcgcgct	6	6	14	15	6	0	2	0	0	0	2	2	4	2	2	4	2	1	2	4	2	1	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:20870684C>G	ENST00000272224.3	+	2	1428	c.852C>G	c.(850-852)atC>atG	p.I284M		NM_182828.2	NP_878248.2	Q7Z4P5	GDF7_HUMAN	growth differentiation factor 7	284					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(1)|cervix(1)|endometrium(2)|lung(1)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCGGGAGATCCGCGCCCAGG	0.731													G	20870684	C	G	20870684	3	3	429	1	0	0	0	0	1	0	0	0	6374	845	30	4	858	4	GDF7	2	20870684	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	10862174	20870684	222328689	10	42295											
SLC30A3	7781	broad.mit.edu	37	chr2	27480105	27480105	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacaaatgccgcccggaCgctggtgttccccaggggca	7	6	14	14	3	0	0	0	0	0	0	1	1	1	1	4	4	2	4	4	4	1	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:27480105C>T	ENST00000233535.4	-	5	1046	c.694G>A	c.(694-696)Gtc>Atc	p.V232I	SLC30A3_ENST00000447008.2_Missense_Mutation_p.V227I	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	232					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCCGCCCGGACGCTGGTGTTC	0.647													T	27480105	C	T	27480105	3	4	429	1	0	0	0	0	1	0	0	0	14650	536	19	1	488	1	SLC30A3	2	27480105	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	6609421	27480105	215719268	11	42296											
RNF103	7844	broad.mit.edu	37	chr2	86831619	86831619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttctgaaaagaagcaatcgGgtggaagaggtagctggtgt	12	9	16	4	1	1	3	0	1	1	2	2	4	1	4	0	4	2	4	0	4	6	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:86831619G>A	ENST00000237455.4	-	4	2373	c.1405C>T	c.(1405-1407)Ccg>Tcg	p.P469S	CHMP3_ENST00000439940.2_Intron|RNF103-CHMP3_ENST00000604011.1_Intron|AC015971.2_ENST00000439077.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	469					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GAAGCAATCGGGTGGAAGAGG	0.458													A	86831619	G	A	86831619	3	1	429	1	0	0	0	0	1	0	0	0	13514	1232	43	2	656	2	RNF103	2	86831619	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	59351514	86831619	156367754	12	42297											
IL1RL1	9173	broad.mit.edu	37	chr2	102956584	102956584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcaataggactggatatgCgaatgtcaccatatataaaa	17	11	7	6	1	2	0	2	0	0	0	2	3	2	2	1	2	1	0	1	2	8	6	rs141061248		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:102956584C>T	ENST00000311734.2	+	4	638	c.299C>T	c.(298-300)gCg>gTg	p.A100V	IL1RL1_ENST00000393393.3_Missense_Mutation_p.A100V|IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000409584.1_Missense_Mutation_p.A100V|IL1RL1_ENST00000404917.2_5'UTR	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	100	Ig-like C2-type 1.				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						ACTGGATATGCGAATGTCACC	0.299													T	102956584	C	T	102956584	3	4	429	1	0	0	0	0	1	0	0	0	7721	768	27	1	309	1	IL1RL1	2	102956584	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	16124965	102956584	140242789	13	42298											
SLC35F5	80255	broad.mit.edu	37	chr2	114508047	114508047	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctcttgtacactgttgtctCcatggcttccaaataataaa	11	14	5	11	0	2	0	0	0	2	0	4	0	3	0	3	1	1	3	3	1	5	6			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:114508047C>T	ENST00000245680.2	-	4	785	c.372G>A	c.(370-372)tgG>tgA	p.W124*	SLC35F5_ENST00000409342.1_Nonsense_Mutation_p.W118*	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	124					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						ACTGTTGTCTCCATGGCTTCC	0.368													T	114508047	C	T	114508047	4	4	429	1	0	0	0	0	0	1	0	0	14686	856	30	2	1247	2	SLC35F5	2	114508047	Nonsense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	11551463	114508047	128691326	14	42299											
TBR1	10716	broad.mit.edu	37	chr2	162279930	162279930	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaccccctcgcccaacgactCgccgcgctcgcagatcgtgc	6	5	10	20	7	0	1	0	0	0	1	4	3	0	1	4	0	2	2	4	0	1	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:162279930C>G	ENST00000389554.3	+	6	1558	c.1241C>G	c.(1240-1242)tCg>tGg	p.S414W	AC009487.4_ENST00000437683.1_RNA|TBR1_ENST00000489530.1_3'UTR|TBR1_ENST00000410035.1_Missense_Mutation_p.S127W	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	414						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CCCAACGACTCGCCGCGCTCG	0.687													G	162279930	C	G	162279930	3	3	429	1	0	0	0	0	1	0	0	0	15747	893	31	4	1263	4	TBR1	2	162279930	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	47771883	162279930	80919443	15	42300											
TTN	7273	broad.mit.edu	37	chr2	179453777	179453777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattttggatttcacagccaCcatcatcttctggtggatcc	9	14	7	11	0	4	0	2	0	2	0	5	2	5	2	3	3	1	0	3	3	1	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:179453777C>T	ENST00000589042.1	-	304	62899	c.62675G>A	c.(62674-62676)gGt>gAt	p.G20892D	TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11952D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G11827D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G18324D|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G12019D|TTN_ENST00000591111.1_Missense_Mutation_p.G19251D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19251	Fibronectin type-III 51.		T -> N.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACAGCCACCATCATCTTC	0.403													T	179453777	C	T	179453777	3	4	429	1	0	0	0	0	1	0	0	0	16837	507	18	2	45540	2	TTN	2	179453777	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	17173847	179453777	63745596	16	42301											
NOP58	51602	broad.mit.edu	37	chr2	203162609	203162610	+	Frame_Shift_Del	DEL	AG	AG	-																															ggaaaagcattagcaaaaacAgaaaaatatgaacacaaaag																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:203162609_203162610delAG	ENST00000264279.5	+	12	1474_1475	c.1248_1249delAG	c.(1246-1251)acagaafs	p.E417fs		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	417					cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						TAGCAAAAACAGAAAAATATGA	0.257													-	203162610	AG	-	203162609	7	5	429	1	0	1	0	1	0	0	0	0	10616	175	7	0	1294	0	NOP58	2	203162609	Frame_Shift_Del	DEL	AG	TCGA-DU-A7T6-01A-11D-A33T-08	23708832	203162609	40036764	17	42302											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	429	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	5950503	209113112	34086261	18	42303											
TRPM8	79054	broad.mit.edu	37	chr2	234869448	234869448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcaagaagtcatgtttaCggctctcataaaggacagac	13	10	8	10	1	3	2	3	0	1	2	4	3	3	3	1	2	1	2	1	2	5	4	rs143538093		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:234869448C>T	ENST00000324695.4	+	12	1431	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	TRPM8_ENST00000433712.2_Missense_Mutation_p.T152M	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	464						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GTCATGTTTACGGCTCTCATA	0.423													T	234869448	C	T	234869448	3	4	429	1	0	0	0	0	1	0	0	0	16693	536	19	1	1433	1	TRPM8	2	234869448	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	25756336	234869448	8329925	19	42304											
ESPNL	339768	broad.mit.edu	37	chr2	239039021	239039021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggtcaacagccacttcctgCcccgggcgcccggactggag	6	5	13	17	4	1	0	1	0	0	0	2	2	2	2	5	4	3	0	5	4	1	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr2:239039021C>G	ENST00000343063.3	+	9	1929	c.1666C>G	c.(1666-1668)Ccc>Gcc	p.P556A	ESPNL_ENST00000477241.1_3'UTR|ESPNL_ENST00000409506.1_Missense_Mutation_p.P188A|ESPNL_ENST00000409169.1_Missense_Mutation_p.P512A	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	556										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCACTTCCTGCCCCGGGCGCC	0.701													G	239039021	C	G	239039021	3	3	429	1	0	0	0	0	1	0	0	0	5296	739	26	4	1700	4	ESPNL	2	239039021	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	4169573	239039021	4160352	20	42305											
TDGF1	6997	broad.mit.edu	37	chr3	46620761	46620761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctcgtccatctcggggatAcctggccttcagagatgaca	8	10	11	12	2	2	2	1	1	1	1	5	4	3	3	3	3	2	1	3	3	1	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:46620761A>G	ENST00000296145.5	+	3	861	c.128A>G	c.(127-129)tAc>tGc	p.Y43C	LRRC2_ENST00000296144.3_Intron|TDGF1_ENST00000542931.1_Missense_Mutation_p.Y27C	NM_003212.3	NP_003203.1	P13385	TDGF1_HUMAN	teratocarcinoma-derived growth factor 1	43			Y -> D (in dbSNP:rs2293025).		activation of MAPK activity|anterior/posterior axis specification, embryo|mammary gland development|morphogenesis of a branching structure|negative regulation of apoptosis|peptidyl-serine phosphorylation|positive regulation of cell migration|positive regulation of peptidyl-tyrosine phosphorylation	anchored to membrane|cell surface|extrinsic to plasma membrane	growth factor activity			cervix(2)|endometrium(1)|kidney(1)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		TCTCGGGGATACCTGGCCTTC	0.517													G	46620761	A	G	46620761	3	3	429	1	0	0	0	0	1	0	0	0	15826	391	14	3	138	3	TDGF1	3	46620761	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08		46620761	151401669	21	42306											
PCBP4	57060	broad.mit.edu	37	chr3	51992879	51992879	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacatgccgctccccagCgccctctgcttggttcccga	4	9	11	17	3	1	1	0	1	1	0	3	2	3	1	5	2	3	3	5	2	0	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:51992879C>G	ENST00000461554.1	-	13	1181	c.850G>C	c.(850-852)Gct>Cct	p.A284P	PCBP4_ENST00000322099.7_Missense_Mutation_p.A284P|PCBP4_ENST00000395013.3_Missense_Mutation_p.A124P|PCBP4_ENST00000484633.1_Missense_Mutation_p.A241P|PCBP4_ENST00000395014.2_Missense_Mutation_p.A305P|PCBP4_ENST00000428823.2_Missense_Mutation_p.A241P|PCBP4_ENST00000471622.1_Missense_Mutation_p.A284P|PCBP4_ENST00000355852.2_Missense_Mutation_p.A284P	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	284	KH 3.					cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CGCTCCCCAGCGCCCTCTGCT	0.637													G	51992879	C	G	51992879	3	3	429	1	0	0	0	0	1	0	0	0	11579	768	27	4	369	4	PCBP4	3	51992879	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	5372118	51992879	146029551	22	42307											
ROBO2	6092	broad.mit.edu	37	chr3	77645827	77645827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatccatggcttgctgattCttggccagccacgagcttgc	6	12	10	13	1	1	1	0	1	1	0	2	2	2	1	3	2	4	3	3	2	1	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:77645827C>G	ENST00000461745.1	+	19	3680	c.2780C>G	c.(2779-2781)tCt>tGt	p.S927C	ROBO2_ENST00000332191.8_Missense_Mutation_p.S927C|ROBO2_ENST00000487694.3_Missense_Mutation_p.S943C	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	927					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CTTGCTGATTCTTGGCCAGCC	0.438													G	77645827	C	G	77645827	3	3	429	1	0	0	0	0	1	0	0	0	13605	913	32	4	2856	4	ROBO2	3	77645827	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	25652948	77645827	120376603	23	42308											
HTR1F	3355	broad.mit.edu	37	chr3	88040261	88040261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagctatagctttggatcGgtatcgagcaatcacagatg	11	11	10	9	2	2	1	2	0	0	1	4	3	2	2	0	2	3	4	0	2	4	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:88040261G>A	ENST00000319595.4	+	1	416	c.362G>A	c.(361-363)cGg>cAg	p.R121Q		NM_000866.3	NP_000857.1	P30939	5HT1F_HUMAN	5-hydroxytryptamine (serotonin) receptor 1F, G protein-coupled	121					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	serotonin binding|serotonin receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(12)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(8;0.147)	Lung NSC(201;0.0283)		LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00664)	Eletriptan(DB00216)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Zolmitriptan(DB00315)	GCTTTGGATCGGTATCGAGCA	0.438													A	88040261	G	A	88040261	3	1	429	1	0	0	0	0	1	0	0	0	7498	1116	39	1	364	1	HTR1F	3	88040261	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	10394434	88040261	109982169	24	42309											
ST3GAL6	10402	broad.mit.edu	37	chr3	98507067	98507068	+	Splice_Site	INS	-	-	T																															gttgatgggtgacaaaatagINStaagtaggcaaaattgttct																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:98507067_98507068insT	ENST00000265261.6	+	7	686		c.e7+1		ST3GAL6_ENST00000394162.1_Splice_Site|ST3GAL6_ENST00000462152.1_Splice_Site|ST3GAL6_ENST00000483910.1_Splice_Site	NM_001271142.1|NM_001271147.1	NP_001258071.1|NP_001258076.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						TGACAAAATAGTAAGTAGGCAA	0.356													T	98507068	-	T	98507067	8	5	429	1	0	1	1	0	0	0	1	0	15315	1043	36	0	641	0	ST3GAL6	3	98507067	Splice_Site	INS	-	TCGA-DU-A7T6-01A-11D-A33T-08	10466806	98507067	99515363	25	42310											
POLQ	10721	broad.mit.edu	37	chr3	121151849	121151849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctctgattgggcagaaCatcccttgcagttttctctt	6	15	7	13	0	2	2	0	1	2	1	5	2	4	2	3	1	2	3	3	1	1	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:121151849C>T	ENST00000264233.5	-	29	7703	c.7575G>A	c.(7573-7575)atG>atA	p.M2525I		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2525					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		TTGGGCAGAACATCCCTTGCA	0.403								DNA polymerases (catalytic subunits)					T	121151849	C	T	121151849	3	4	429	1	0	0	0	0	1	0	0	0	12285	478	17	2	205	2	POLQ	3	121151849	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	22644782	121151849	76870581	26	42311											
PPP2R3A	5523	broad.mit.edu	37	chr3	135721813	135721815	+	In_Frame_Del	DEL	ATT	ATT	-																															tgtaaatcaaaagtttctaaAtttgaagagggagaccagag																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:135721813_135721815delATT	ENST00000264977.3	+	2	2090_2092	c.1473_1475delATT	c.(1471-1476)aaattt>aat	p.491_492KF>N	PPP2R3A_ENST00000490467.1_Intron	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	491					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						AAGTTTCTAAATTTGAAGAGGGA	0.335													-	135721815	ATT	-	135721813	7	5	429	1	0	1	0	1	0	0	0	0	12470	98	4	0	1475	0	PPP2R3A	3	135721813	In_Frame_Del	DEL	ATT	TCGA-DU-A7T6-01A-11D-A33T-08	14569964	135721813	62300617	27	42312											
PRR23B	389151	broad.mit.edu	37	chr3	138738956	138738956	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaggggatgaacatacttCtagaggaggggtagagccca	12	7	16	6	0	1	3	0	1	1	2	1	5	1	5	1	6	3	2	1	6	5	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:138738956C>G	ENST00000329447.5	-	1	812	c.548G>C	c.(547-549)aGa>aCa	p.R183T	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	183										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GAACATACTTCTAGAGGAGGG	0.647													G	138738956	C	G	138738956	3	3	429	1	0	0	0	0	1	0	0	0	12681	913	32	4	253	4	PRR23B	3	138738956	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3017143	138738956	59283474	28	42313											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540297	169540297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatcattgacctggaCgagaacaaaataggtgccat	15	8	10	8	1	1	2	1	1	0	1	1	5	1	4	2	3	2	0	2	3	5	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr3:169540297C>T	ENST00000340806.6	+	1	588	c.588C>T	c.(586-588)gaC>gaT	p.D196D		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	196								p.D196D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						TTGACCTGGACGAGAACAAAA	0.517													T	169540297	C	T	169540297	2	4	429	1	0	0	0	0	0	0	0	1	9101	535	19	1		1	LRRIQ4	3	169540297	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	30801341	169540297	28482133	29	42314											
ADRA2C	152	broad.mit.edu	37	chr4	3769015	3769015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgcctcatcatgggcCtggtctacgcgcgcatctac	5	9	10	17	4	4	0	2	0	2	0	4	0	4	0	3	2	3	1	3	2	2	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:3769015C>G	ENST00000330055.5	+	1	891	c.682C>G	c.(682-684)Ctg>Gtg	p.L228V	ADRA2C_ENST00000509482.1_Missense_Mutation_p.L228V	NM_000683.3	NP_000674.2	P18825	ADA2C_HUMAN	adrenoceptor alpha 2C	228					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|energy reserve metabolic process|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation|regulation of insulin secretion	endosome|integral to plasma membrane	alpha-2A adrenergic receptor binding|alpha2-adrenergic receptor activity|epinephrine binding|protein heterodimerization activity|protein homodimerization activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)	Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	CATCATGGGCCTGGTCTACGC	0.697													G	3769015	C	G	3769015	3	3	429	1	0	0	0	0	1	0	0	0	339	680	24	4	684	4	ADRA2C	4	3769015	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		3769015	187385261	30	42315											
CXCL1	2919	broad.mit.edu	37	chr4	74735501	74735501	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccccactgcgcccaaacCgaagtcatgtaagtcccgcc	10	5	9	17	3	1	0	1	0	0	0	2	2	2	1	6	1	2	1	6	1	3	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:74735501C>G	ENST00000395761.3	+	2	283	c.216C>G	c.(214-216)acC>acG	p.T72T	CXCL1_ENST00000509101.1_3'UTR	NM_001511.3	NP_001502.1	P09341	GROA_HUMAN	chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha)	72					actin cytoskeleton organization|cell proliferation|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|inflammatory response|intracellular signal transduction|negative regulation of cell proliferation|nervous system development	extracellular space|intracellular	chemokine activity|enzyme activator activity|growth factor activity			lung(2)	2	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGCCCAAACCGAAGTCATGT	0.652													G	74735501	C	G	74735501	2	3	429	1	0	0	0	0	0	0	0	1	4110	639	23	4		4	CXCL1	4	74735501	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	70966486	74735501	116418775	31	42316											
PRDM8	56978	broad.mit.edu	37	chr4	81121392	81121392	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccatacttccctatatgAcagcatagctttcatagctc	11	12	6	12	0	1	1	1	1	0	0	3	2	2	1	2	0	5	3	2	0	5	7			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:81121392A>G	ENST00000339711.4	+	8	1389	c.158A>G	c.(157-159)gAc>gGc	p.D53G	PRDM8_ENST00000504452.1_Missense_Mutation_p.D53G|PRDM8_ENST00000415738.2_Missense_Mutation_p.D53G	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	53	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						TCCCTATATGACAGCATAGCT	0.443													G	81121392	A	G	81121392	3	3	429	1	0	0	0	0	1	0	0	0	12548	275	10	3	160	3	PRDM8	4	81121392	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	6385891	81121392	110032884	32	42317											
TIGD4	201798	broad.mit.edu	37	chr4	153691335	153691335	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgctgggcttgaaattcCtcatcaagctttcgcatcca	8	13	8	12	2	2	1	2	1	0	0	5	1	4	1	2	1	2	5	2	1	2	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:153691335C>T	ENST00000304337.2	-	2	1642	c.822G>A	c.(820-822)gaG>gaA	p.E274E		NM_145720.3	NP_663772.1	Q8IY51	TIGD4_HUMAN	tigger transposable element derived 4	274	DDE.				regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|DNA binding			breast(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	26	all_hematologic(180;0.093)					CTTGAAATTCCTCATCAAGCT	0.398													T	153691335	C	T	153691335	2	4	429	1	0	0	0	0	0	0	0	1	15998	680	24	2		2	TIGD4	4	153691335	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	72569943	153691335	37462941	33	42318											
FAT1	2195	broad.mit.edu	37	chr4	187539809	187539809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgttaatttccaaattcTcttttacactttcagagtct	9	20	4	8	0	3	1	1	0	2	1	5	1	4	1	1	0	1	2	1	0	3	7			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr4:187539809T>C	ENST00000441802.2	-	10	8140	c.7931A>G	c.(7930-7932)gAg>gGg	p.E2644G		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2644	Cadherin 24.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTCCAAATTCTCTTTTACACT	0.423										HNSCC(5;0.00058)			C	187539809	T	C	187539809	3	2	429	1	0	0	0	0	1	0	0	0	5738	1551	54	3	5907	3	FAT1	4	187539809	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	33848474	187539809	3614467	34	42319											
FOXD1	2297	broad.mit.edu	37	chr5	72743502	72743502	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcggcggccgcggcgttgGgtgggagcagcggctgccgc	3	5	20	13	7	0	0	0	0	0	0	1	1	0	1	2	6	3	3	2	6	0	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:72743502G>C	ENST00000499003.3	-	1	850	c.686C>G	c.(685-687)cCc>cGc	p.P229R		NM_004472.2	NP_004463.1	Q16676	FOXD1_HUMAN	forkhead box D1	229					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|metanephric capsule specification|negative regulation of transcription, DNA-dependent|neural crest cell migration|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|kidney(1)|lung(2)	4		Lung NSC(167;0.00327)|Ovarian(174;0.0175)|Prostate(461;0.151)		OV - Ovarian serous cystadenocarcinoma(47;1.07e-54)		cgcggcgttgggtgggagcag	0.761													C	72743502	G	C	72743502	3	2	429	1	0	0	0	0	1	0	0	0	6045	1232	43	4	713	4	FOXD1	5	72743502	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		72743502	108171758	35	42320											
MSH3	4437	broad.mit.edu	37	chr5	80064755	80064755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgacgagatccgaatgcAtttgcaagaaatacgaaaaa	18	9	8	6	3	0	3	0	1	0	2	1	6	1	3	1	0	3	2	1	0	7	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:80064755A>G	ENST00000265081.6	+	15	2266	c.2186A>G	c.(2185-2187)cAt>cGt	p.H729R		NM_002439.4	NP_002430.3	P20585	MSH3_HUMAN	mutS homolog 3	729					maintenance of DNA repeat elements|meiotic mismatch repair|negative regulation of DNA recombination|positive regulation of helicase activity|reciprocal meiotic recombination|somatic recombination of immunoglobulin gene segments	MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|enzyme binding|loop DNA binding|Y-form DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		Lung NSC(167;0.00479)|all_lung(232;0.00507)|Ovarian(174;0.0261)|Breast(144;0.244)		OV - Ovarian serous cystadenocarcinoma(54;2.38e-45)|Epithelial(54;1.58e-38)|all cancers(79;4.93e-33)		ATCCGAATGCATTTGCAAGAA	0.328								Mismatch excision repair (MMR)					G	80064755	A	G	80064755	3	3	429	1	0	0	0	0	1	0	0	0	9947	217	8	3	2244	3	MSH3	5	80064755	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	7321253	80064755	100850505	36	42321											
CKMT2	1160	broad.mit.edu	37	chr5	80547053	80547053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accgggtacctgctgaaccgGcagaaagtgtgtgccgaggt	9	7	15	10	3	0	2	0	1	0	1	0	3	0	2	4	3	4	3	4	3	3	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:80547053G>A	ENST00000424301.2	+	3	340	c.102G>A	c.(100-102)cgG>cgA	p.R34R	CKMT2-AS1_ENST00000503483.2_RNA|CKMT2-AS1_ENST00000512287.1_RNA|CKMT2-AS1_ENST00000505295.1_RNA|CKMT2_ENST00000505704.1_3'UTR|CKMT2_ENST00000437669.1_Silent_p.R34R|CKMT2-AS1_ENST00000502041.2_RNA|CKMT2-AS1_ENST00000501927.2_RNA|CKMT2_ENST00000254035.4_Silent_p.R34R|CKMT2-AS1_ENST00000500148.2_RNA|CKMT2-AS1_ENST00000511495.1_RNA	NM_001825.2	NP_001816.2	P17540	KCRS_HUMAN	creatine kinase, mitochondrial 2 (sarcomeric)	34					creatine metabolic process|muscle contraction	mitochondrial inner membrane	ATP binding|creatine kinase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(4)|urinary_tract(1)	17		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0336)		OV - Ovarian serous cystadenocarcinoma(54;2.29e-44)|Epithelial(54;1.05e-38)|all cancers(79;4.15e-34)	Creatine(DB00148)	TGCTGAACCGGCAGAAAGTGT	0.547													A	80547053	G	A	80547053	2	1	429	1	0	0	0	0	0	0	0	1	3482	1190	42	2		2	CKMT2	5	80547053	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	482298	80547053	100368207	37	42322											
KCNN2	3781	broad.mit.edu	37	chr5	113698753	113698753	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcagcactggaggaggcgGcggcggtggcgggagcgggc	6	2	24	9	5	0	0	0	0	0	0	0	3	0	3	0	10	2	2	0	10	0	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:113698753G>C	ENST00000512097.3	+	2	1299	c.281G>C	c.(280-282)gGc>gCc	p.G94A	KCNN2_ENST00000264773.3_Missense_Mutation_p.G94A			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	94	Poly-Gly.					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		ggaggaggcggcggcggtggc	0.652													C	113698753	G	C	113698753	3	2	429	1	0	0	0	0	1	0	0	0	8137	1203	42	4	283	4	KCNN2	5	113698753	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	33151700	113698753	67216507	38	42323											
CSF2	1437	broad.mit.edu	37	chr5	131409573	131409573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagcatctctgcaccCgcccgctcgcccagccccag	5	5	9	22	3	1	0	0	0	1	0	3	0	1	0	6	0	4	4	6	0	0	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:131409573C>T	ENST00000296871.2	+	1	91	c.57C>T	c.(55-57)ccC>ccT	p.P19P		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	19					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCTCTGCACCCGCCCGCTCGC	0.617													T	131409573	C	T	131409573	2	4	429	1	0	0	0	0	0	0	0	1	3966	639	23	1		1	CSF2	5	131409573	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	17710820	131409573	49505687	39	42324											
PCDHB15	56121	broad.mit.edu	37	chr5	140627084	140627084	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagtggtgctggtcaaggaCaatggcgagcctccgcgctc	7	8	14	12	3	1	0	1	0	0	0	3	2	2	1	2	4	2	2	2	4	3	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:140627084C>G	ENST00000231173.3	+	1	1938	c.1938C>G	c.(1936-1938)gaC>gaG	p.D646E		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		646	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGGTCAAGGACAATGGCGAGC	0.706													G	140627084	C	G	140627084	3	3	429	1	0	0	0	0	1	0	0	0	11616	477	17	4	1940	4	PCDHB15	5	140627084	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	9217511	140627084	40288176	40	42325											
FLT4	2324	broad.mit.edu	37	chr5	180047675	180047675	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acagcgatgacgccggtaccGacaaggatcacgatctccat	12	6	10	13	5	2	1	1	1	1	0	3	5	2	2	3	2	2	1	3	2	2	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr5:180047675G>C	ENST00000261937.6	-	16	2418	c.2340C>G	c.(2338-2340)gtC>gtG	p.V780V	FLT4_ENST00000502649.1_Silent_p.V780V|FLT4_ENST00000393347.3_Silent_p.V780V	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	780					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CGCCGGTACCGACAAGGATCA	0.592													C	180047675	G	C	180047675	2	2	429	1	0	0	0	0	0	0	0	1	5993	1045	37	4		4	FLT4	5	180047675	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	39420591	180047675	867585	41	42326											
ZSCAN16	80345	broad.mit.edu	37	chr6	28093396	28093396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctggaccccgtgaagctCttacccagctgtgggagctc	7	8	11	15	1	1	1	0	1	1	0	2	3	1	3	4	2	4	3	4	2	2	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr6:28093396C>T	ENST00000340487.4	+	2	324	c.175C>T	c.(175-177)Ctt>Ttt	p.L59F	ZSCAN16-AS1_ENST00000602810.1_RNA|ZSCAN16-AS1_ENST00000600652.1_RNA	NM_025231.1	NP_079507.1	Q9H4T2	ZSC16_HUMAN	zinc finger and SCAN domain containing 16	59	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(5)|liver(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						CCGTGAAGCTCTTACCCAGCT	0.537													T	28093396	C	T	28093396	3	4	429	1	0	0	0	0	1	0	0	0	18327	913	32	2	177	2	ZSCAN16	6	28093396	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		28093396	143021671	42	42327											
CUL9	23113	broad.mit.edu	37	chr6	43152296	43152296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggctgttaggtgagcGggcactatctaagggacttc	7	10	14	10	1	1	1	0	1	1	0	2	2	1	2	1	4	1	3	1	4	3	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr6:43152296G>A	ENST00000252050.4	+	2	332	c.248G>A	c.(247-249)cGg>cAg	p.R83Q	CUL9_ENST00000354495.3_Missense_Mutation_p.R83Q|CUL9_ENST00000372647.2_Missense_Mutation_p.R83Q	NM_015089.2	NP_055904.1	Q8IWT3	CUL9_HUMAN	cullin 9	83					ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex|cytoplasm	ATP binding|ubiquitin protein ligase binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|liver(1)|lung(30)|ovary(5)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(4)	92						TTAGGTGAGCGGGCACTATCT	0.572													A	43152296	G	A	43152296	3	1	429	1	0	0	0	0	1	0	0	0	4094	1116	39	1	250	1	CUL9	6	43152296	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	15058900	43152296	127962771	43	42328											
HOXA11	3207	broad.mit.edu	37	chr7	27224559	27224559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggtgccatttagtggcggGctcaatggcgtactctctga	6	11	15	9	2	2	1	1	1	1	0	3	1	2	1	1	5	2	2	1	5	3	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:27224559G>C	ENST00000006015.3	-	1	276	c.205C>G	c.(205-207)Ccc>Gcc	p.P69A	HOXA11-AS_ENST00000520360.1_RNA|HOXA11-AS_ENST00000522863.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	69					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTAGTGGCGGGCTCAATGGCG	0.657			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	27224559	G	C	27224559	3	2	429	1	0	0	0	0	1	0	0	0	7345	1203	42	4	744	4	HOXA11	7	27224559	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		27224559	131914104	44	42329											
ZNF479	90827	broad.mit.edu	37	chr7	57188424	57188424	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttctctccagtatgaattAttttatgtgtagtatggttt	8	21	8	4	0	1	1	0	1	1	0	3	1	2	1	1	1	0	5	1	1	6	8			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:57188424A>G	ENST00000331162.4	-	5	968	c.698T>C	c.(697-699)aTa>aCa	p.I233T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	233					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGTATGAATTATTTTATGTGT	0.383													G	57188424	A	G	57188424	3	3	429	1	0	0	0	0	1	0	0	0	18034	449	16	3	880	3	ZNF479	7	57188424	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	29963865	57188424	101950239	45	42330											
ZAN	7455	broad.mit.edu	37	chr7	100334235	100334235	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggctccaccggggcccccgGggggtaccctaacggaggtg	5	4	17	15	4	0	0	0	0	0	0	1	1	1	1	5	8	2	2	5	8	2	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:100334235G>A	ENST00000542585.1	+	0	384				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGGCCCCCGGGGGGTACCCT	0.662													A	100334235	G	A	100334235	1	1	429	0	1	0	0	0	0	0	0	0	17615	1232	43	2		2	ZAN	7	100334235	RNA	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43145811	100334235	58804428	46	42331											
TSPAN12	23554	broad.mit.edu	37	chr7	120478922	120478922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaaacagcaatcatgaccGgatgaaccacaggaaagtaa	19	4	9	9	1	1	2	1	2	0	0	1	4	1	4	2	2	4	3	2	2	5	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:120478922G>A	ENST00000222747.3	-	4	801	c.194C>T	c.(193-195)cCg>cTg	p.P65L	TSPAN12_ENST00000415871.1_Missense_Mutation_p.P65L	NM_012338.3	NP_036470.1	O95859	TSN12_HUMAN	tetraspanin 12	65					angiogenesis|cell surface receptor linked signaling pathway|regulation of angiogenesis|retina layer formation	integral to plasma membrane|membrane fraction		p.P65Q(1)		endometrium(3)|kidney(1)|lung(4)|ovary(1)|skin(1)	10	all_neural(327;0.117)					AATCATGACCGGATGAACCAC	0.373													A	120478922	G	A	120478922	3	1	429	1	0	0	0	0	1	0	0	0	16737	1116	39	1	743	1	TSPAN12	7	120478922	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	20144687	120478922	38659741	47	42332											
FLNC	2318	broad.mit.edu	37	chr7	128482936	128482936	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatcatcaagaatgacaaCgacaccttcaccgtcaagta	16	7	6	12	2	4	2	4	1	0	1	4	4	4	2	2	0	1	1	2	0	5	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:128482936C>G	ENST00000325888.8	+	16	2739	c.2478C>G	c.(2476-2478)aaC>aaG	p.N826K	FLNC_ENST00000346177.6_Missense_Mutation_p.N826K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	826					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAATGACAACGACACCTTCA	0.592													G	128482936	C	G	128482936	3	3	429	1	0	0	0	0	1	0	0	0	5984	535	19	4	2540	4	FLNC	7	128482936	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	8004014	128482936	30655727	48	42333											
KIAA1549	57670	broad.mit.edu	37	chr7	138603381	138603381	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatggtttcttctaggctttGactcaacacagtggtcacat	9	14	9	9	0	4	1	2	1	2	0	4	2	4	1	0	3	1	2	0	3	2	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:138603381G>C	ENST00000440172.1	-	2	1039	c.991C>G	c.(991-993)Caa>Gaa	p.Q331E	KIAA1549_ENST00000422774.1_Missense_Mutation_p.Q331E|KIAA1549_ENST00000242365.4_Missense_Mutation_p.Q281E	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	331						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						TCTAGGCTTTGACTCAACACA	0.517			O	BRAF	pilocytic astrocytoma								C	138603381	G	C	138603381	3	2	429	1	0	0	0	0	1	0	0	0	8302	1299	45	4	4937	4	KIAA1549	7	138603381	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	10120445	138603381	20535282	49	42334											
HTR5A	3361	broad.mit.edu	37	chr7	154862767	154862767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctttctggtggcggCgacgttcgcctggaacctgc	3	10	16	12	4	1	0	0	0	1	0	2	2	1	1	2	5	2	3	2	5	1	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr7:154862767C>T	ENST00000287907.2	+	1	734	c.158C>T	c.(157-159)gCg>gTg	p.A53V	HTR5A-AS1_ENST00000395731.2_Missense_Mutation_p.A83T|HTR5A-AS1_ENST00000543018.1_Missense_Mutation_p.A83T|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	53						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		CTGGTGGCGGCGACGTTCGCC	0.642													T	154862767	C	T	154862767	3	4	429	1	0	0	0	0	1	0	0	0	7508	768	27	1	160	1	HTR5A	7	154862767	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	16259386	154862767	4275896	50	42335											
RP1L1	94137	broad.mit.edu	37	chr8	10480690	10480690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggctcggggcctgggCattcctgggggtgctgttca	3	10	18	10	2	1	0	1	0	0	0	3	0	2	0	2	7	1	4	2	7	0	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:10480690C>A	ENST00000382483.3	-	2	245	c.22G>T	c.(22-24)Gcc>Tcc	p.A8S	RP1L1_ENST00000329335.3_5'UTR	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	8					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGCCTGGGCATTCCTGGGG	0.632													A	10480690	C	A	10480690	3	1	429	1	0	0	0	0	1	0	0	0	13624	710	25	4	7192	4	RP1L1	8	10480690	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		10480690	135883332	51	42336											
GINS4	84296	broad.mit.edu	37	chr8	41397213	41397213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatagagaagtttttccCtcatgtccttgagaaggaaa	14	11	9	7	0	1	3	1	1	0	3	3	6	3	4	2	1	0	1	2	1	4	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:41397213C>T	ENST00000523277.2	+	5	481	c.314C>T	c.(313-315)cCt>cTt	p.P105L	RP11-360L9.4_ENST00000523081.1_RNA|GINS4_ENST00000518671.1_Missense_Mutation_p.P105L|GINS4_ENST00000276533.3_Missense_Mutation_p.P105L			Q9BRT9	SLD5_HUMAN	GINS complex subunit 4 (Sld5 homolog)	105					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	cytoplasm|nucleoplasm				breast(1)|lung(2)|skin(1)	4	Ovarian(28;0.014)|Colorectal(14;0.0202)|Lung SC(25;0.211)	all_lung(54;0.00732)|Lung NSC(58;0.0207)|Hepatocellular(245;0.0462)|Esophageal squamous(32;0.0844)	Colorectal(10;0.0014)|OV - Ovarian serous cystadenocarcinoma(14;0.00329)|LUSC - Lung squamous cell carcinoma(45;0.0137)|COAD - Colon adenocarcinoma(11;0.0147)			AAGTTTTTCCCTCATGTCCTT	0.458													T	41397213	C	T	41397213	3	4	429	1	0	0	0	0	1	0	0	0	6446	681	24	2	328	2	GINS4	8	41397213	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	30916523	41397213	104966809	52	42337											
XKR4	114786	broad.mit.edu	37	chr8	56015369	56015369	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcagggagcagcggcgctaCtcactgtgggactgcctctg	6	7	16	12	2	2	0	1	0	1	0	2	2	2	2	1	4	4	3	1	4	1	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:56015369C>G	ENST00000327381.6	+	1	421	c.321C>G	c.(319-321)taC>taG	p.Y107*		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			AGCGGCGCTACTCACTGTGGG	0.771													G	56015369	C	G	56015369	4	3	429	1	0	0	0	0	0	1	0	0	17535	576	20	4	323	4	XKR4	8	56015369	Nonsense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	14618156	56015369	90348653	53	42338											
CDH17	1015	broad.mit.edu	37	chr8	95189844	95189844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtagatcttgtttcccTgtccaaggctctgttgtaat	7	16	10	8	0	2	2	0	1	2	1	4	2	4	2	2	1	0	5	2	1	3	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:95189844T>C	ENST00000027335.3	-	4	380	c.256A>G	c.(256-258)Agg>Ggg	p.R86G	CDH17_ENST00000450165.2_Missense_Mutation_p.R86G|CDH17_ENST00000441892.2_Missense_Mutation_p.R86G	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	86	Cadherin 1.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CTTGTTTCCCTGTCCAAGGCT	0.463													C	95189844	T	C	95189844	3	2	429	1	0	0	0	0	1	0	0	0	3132	1579	55	3	2302	3	CDH17	8	95189844	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	39174475	95189844	51174178	54	42339											
DPYS	1807	broad.mit.edu	37	chr8	105440214	105440214	+	Frame_Shift_Del	DEL	T	T	-																															cctgtgaaacccaccacgccTttttcccatattacggacat																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:105440214delT	ENST00000351513.2	-	6	1218	c.1086delA	c.(1084-1086)aaafs	p.K362fs		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	362					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			CCACCACGCCTTTTTCCCATA	0.478													-	105440214	T	-	105440214	7	5	429	1	0	1	0	1	0	0	0	0	4785	1606	56	0	489	0	DPYS	8	105440214	Frame_Shift_Del	DEL	T	TCGA-DU-A7T6-01A-11D-A33T-08	10250370	105440214	40923808	55	42340											
SAMD12	401474	broad.mit.edu	37	chr8	119452089	119452089	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttatgtcatgctgttTgaatgactcactgtagatct	10	15	8	8	0	3	3	2	2	1	1	3	3	3	3	1	0	1	4	1	0	3	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:119452089T>G	ENST00000409003.4	-	3	432	c.304A>C	c.(304-306)Aaa>Caa	p.K102Q	SAMD12_ENST00000314727.4_Missense_Mutation_p.K102Q	NM_001101676.1	NP_001095146.1	Q8N8I0	SAM12_HUMAN	sterile alpha motif domain containing 12	102	SAM.									endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)	9	all_cancers(13;3.91e-25)|Lung NSC(37;1.13e-07)|Ovarian(258;0.0249)		STAD - Stomach adenocarcinoma(47;0.00391)			TCATGCTGTTTGAATGACTCA	0.433													G	119452089	T	G	119452089	3	3	429	1	0	0	0	0	1	0	0	0	13908	1821	63	5	336	5	SAMD12	8	119452089	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	14011875	119452089	26911933	56	42341											
PLEC	5339	broad.mit.edu	37	chr8	144990713	144990713	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagtaggcgcccacgtcacGcagcttctgtgcggtgcggg	5	7	17	12	5	2	0	1	0	1	0	2	1	2	1	1	4	3	3	1	4	1	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144990713G>A	ENST00000322810.4	-	32	13856	c.13687C>T	c.(13687-13689)Cgt>Tgt	p.R4563C	PLEC_ENST00000357649.2_Missense_Mutation_p.R4430C|PLEC_ENST00000398774.2_Missense_Mutation_p.R4394C|PLEC_ENST00000356346.3_Missense_Mutation_p.R4412C|PLEC_ENST00000354958.2_Missense_Mutation_p.R4404C|PLEC_ENST00000527096.1_Missense_Mutation_p.R4449C|PLEC_ENST00000436759.2_Missense_Mutation_p.R4453C|PLEC_ENST00000354589.3_Missense_Mutation_p.R4426C|PLEC_ENST00000345136.3_Missense_Mutation_p.R4426C	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4563	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCCACGTCACGCAGCTTCTGT	0.682													A	144990713	G	A	144990713	3	1	429	1	0	0	0	0	1	0	0	0	12129	1087	38	1	371	1	PLEC	8	144990713	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	25538624	144990713	1373309	57	42342											
PLEC	5339	broad.mit.edu	37	chr8	144997340	144997340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtcacgcaagatgagtgCgcggttctcagcctcgatgc	7	10	12	12	4	2	2	2	1	1	1	4	3	2	2	1	1	3	2	1	1	1	2	rs62641756	by1000genomes	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144997340C>G	ENST00000322810.4	-	31	7337	c.7168G>C	c.(7168-7170)Gca>Cca	p.A2390P	PLEC_ENST00000357649.2_Missense_Mutation_p.A2257P|PLEC_ENST00000398774.2_Missense_Mutation_p.A2221P|PLEC_ENST00000356346.3_Missense_Mutation_p.A2239P|PLEC_ENST00000354958.2_Missense_Mutation_p.A2231P|PLEC_ENST00000527096.1_Missense_Mutation_p.A2276P|PLEC_ENST00000436759.2_Missense_Mutation_p.A2280P|PLEC_ENST00000354589.3_Missense_Mutation_p.A2253P|PLEC_ENST00000345136.3_Missense_Mutation_p.A2253P	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2390	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AAGATGAGTGCGCGGTTCTCA	0.642													G	144997340	C	G	144997340	3	3	429	1	0	0	0	0	1	0	0	0	12129	768	27	4	6894	4	PLEC	8	144997340	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	6627	144997340	1366682	58	42343											
PLEC	5339	broad.mit.edu	37	chr8	144997377	144997377	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgcgtgccttgagcttgctCagctcctccatctgcacgcg	5	11	10	15	3	2	1	1	1	1	0	4	1	4	1	3	0	6	4	3	0	0	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr8:144997377C>G	ENST00000322810.4	-	31	7300	c.7131G>C	c.(7129-7131)ctG>ctC	p.L2377L	PLEC_ENST00000357649.2_Silent_p.L2244L|PLEC_ENST00000398774.2_Silent_p.L2208L|PLEC_ENST00000356346.3_Silent_p.L2226L|PLEC_ENST00000354958.2_Silent_p.L2218L|PLEC_ENST00000527096.1_Silent_p.L2263L|PLEC_ENST00000436759.2_Silent_p.L2267L|PLEC_ENST00000354589.3_Silent_p.L2240L|PLEC_ENST00000345136.3_Silent_p.L2240L	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2377	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGAGCTTGCTCAGCTCCTCCA	0.637													G	144997377	C	G	144997377	2	3	429	1	0	0	0	0	0	0	0	1	12129	813	29	4		4	PLEC	8	144997377	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	37	144997377	1366645	59	42344											
UNC13B	10497	broad.mit.edu	37	chr9	35389883	35389883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaacaagggcccagcattcGgaacctggatttctggccca	10	7	12	12	1	1	0	0	0	1	0	2	3	1	3	3	5	3	1	3	5	3	2	rs147799499		TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:35389883G>A	ENST00000378495.3	+	24	3110	c.2888G>A	c.(2887-2889)cGg>cAg	p.R963Q	UNC13B_ENST00000396787.1_Missense_Mutation_p.R975Q|UNC13B_ENST00000378496.4_Missense_Mutation_p.R963Q	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	963					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	p.R963Q(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CCCAGCATTCGGAACCTGGAT	0.493													A	35389883	G	A	35389883	3	1	429	1	0	0	0	0	1	0	0	0	17087	1116	39	1	2982	1	UNC13B	9	35389883	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		35389883	105823548	60	42345											
FGD3	89846	broad.mit.edu	37	chr9	95797674	95797674	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gctgcaaactgagtgtgccgGaccctgaggagaggctggac	9	6	16	10	1	0	3	0	2	0	1	0	6	0	5	2	4	3	3	2	4	1	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:95797674G>C	ENST00000375482.3	+	18	2477	c.1981G>C	c.(1981-1983)Gac>Cac	p.D661H	FGD3_ENST00000337352.6_Missense_Mutation_p.D661H|FGD3_ENST00000538555.1_Missense_Mutation_p.D264H|FGD3_ENST00000416701.2_Missense_Mutation_p.D660H	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	661	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						GAGTGTGCCGGACCCTGAGGA	0.677													C	95797674	G	C	95797674	3	2	429	1	0	0	0	0	1	0	0	0	5883	1174	41	4	2043	4	FGD3	9	95797674	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	60407791	95797674	45415757	61	42346											
C5	727	broad.mit.edu	37	chr9	123742403	123742403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagctgaaacaattgaacGaaactgtgggtgagttttat	15	11	10	5	1	0	3	0	3	0	0	0	4	0	3	0	1	4	2	0	1	6	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:123742403G>A	ENST00000223642.1	-	28	3645	c.3616C>T	c.(3616-3618)Cgt>Tgt	p.R1206C		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1206					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	ACAATTGAACGAAACTGTGGG	0.408													A	123742403	G	A	123742403	3	1	429	1	0	0	0	0	1	0	0	0	2302	1058	37	1	1470	1	C5	9	123742403	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	27944729	123742403	17471028	62	42347											
COL5A1	1289	broad.mit.edu	37	chr9	137708918	137708918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggtccatcggggcctccagGaaaaagggtaaataatcctg	13	7	12	9	1	0	0	0	0	0	0	4	1	3	1	4	5	0	1	4	5	5	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr9:137708918G>A	ENST00000371817.3	+	53	4583	c.4169G>A	c.(4168-4170)gGa>gAa	p.G1390E		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1390	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GGGCCTCCAGGAAAAAGGGTA	0.572													A	137708918	G	A	137708918	3	1	429	1	0	0	0	0	1	0	0	0	3727	1174	41	2	4379	2	COL5A1	9	137708918	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	13966515	137708918	3504513	63	42348											
KIAA1217	56243	broad.mit.edu	37	chr10	24834864	24834864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctctgggaaaagcagttctCtgccctcttctagtggtgac	7	12	11	11	0	4	1	0	1	4	0	5	2	4	2	1	2	2	3	1	2	3	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:24834864C>G	ENST00000376454.3	+	21	5473	c.5443C>G	c.(5443-5445)Ctg>Gtg	p.L1815V	KIAA1217_ENST00000376451.2_3'UTR|KIAA1217_ENST00000458595.1_Missense_Mutation_p.L1221V|KIAA1217_ENST00000376462.1_Missense_Mutation_p.L1136V|KIAA1217_ENST00000396445.1_3'UTR|KIAA1217_ENST00000376452.3_Missense_Mutation_p.L1246V	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	1815	Ser-rich.				embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AAGCAGTTCTCTGCCCTCTTC	0.512													G	24834864	C	G	24834864	3	3	429	1	0	0	0	0	1	0	0	0	8274	912	32	4	5525	4	KIAA1217	10	24834864	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		24834864	110699883	64	42349											
LRRC18	474354	broad.mit.edu	37	chr10	50122062	50122062	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtccatgtcactaaggcgcaGaatacacttggggaaggtgg	11	8	14	8	1	1	1	1	0	0	1	2	2	2	2	1	5	1	1	1	5	4	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:50122062G>C	ENST00000374160.3	-	1	215	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	WDFY4_ENST00000325239.5_Intron|RP11-523O18.7_ENST00000430438.1_RNA|WDFY4_ENST00000413659.2_Intron|LRRC18_ENST00000298124.3_Missense_Mutation_p.L47V	NM_001006939.3	NP_001006940.3	Q8N456	LRC18_HUMAN	leucine rich repeat containing 18	47						cytoplasm				NS(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						CTAAGGCGCAGAATACACTTG	0.507													C	50122062	G	C	50122062	3	2	429	1	0	0	0	0	1	0	0	0	9044	933	33	4	654	4	LRRC18	10	50122062	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	25287198	50122062	85412685	65	42350											
MBL2	4153	broad.mit.edu	37	chr10	54530513	54530513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcctggaggccccaactttCcaggggggccctgtaagcct	6	9	12	14	0	0	0	0	0	0	0	2	1	2	1	6	5	2	1	6	5	2	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:54530513C>T	ENST00000373968.3	-	2	285	c.221G>A	c.(220-222)gGa>gAa	p.G74E		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	74	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCCCAACTTTCCAGGGGGGCC	0.522													T	54530513	C	T	54530513	3	4	429	1	0	0	0	0	1	0	0	0	9425	855	30	2	537	2	MBL2	10	54530513	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	4408451	54530513	81004234	66	42351											
SLIT1	6585	broad.mit.edu	37	chr10	98924616	98924616	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcaaagtcattcttatGgatccgagtgatgttgttgc	8	13	10	10	2	2	1	1	1	1	0	3	3	3	2	3	1	1	3	3	1	2	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:98924616G>A	ENST00000266058.4	-	2	474	c.229C>T	c.(229-231)Cat>Tat	p.H77Y	SLIT1_ENST00000456008.2_5'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.H77Y|ARHGAP19-SLIT1_ENST00000453547.2_Silent_p.S502S|SLIT1_ENST00000371041.3_Missense_Mutation_p.H77Y	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	77					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		TCATTCTTATGGATCCGAGTG	0.617													A	98924616	G	A	98924616	3	1	429	1	0	0	0	0	1	0	0	0	14833	1348	47	2	4519	2	SLIT1	10	98924616	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	44394103	98924616	36610131	67	42352											
PPAPDC1A	196051	broad.mit.edu	37	chr10	122334784	122334784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgatgattgccctgtcccGcatgtgcgactacaagcatc	9	10	9	13	2	0	2	0	2	0	0	2	3	1	2	2	0	4	2	2	0	2	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr10:122334784G>A	ENST00000398250.1	+	6	939	c.587G>A	c.(586-588)cGc>cAc	p.R196H	PPAPDC1A_ENST00000369073.3_Missense_Mutation_p.R186H|PPAPDC1A_ENST00000439221.1_Missense_Mutation_p.R133H|PPAPDC1A_ENST00000398248.1_Intron|PPAPDC1A_ENST00000541332.1_Missense_Mutation_p.R196H|PPAPDC1A_ENST00000496437.1_3'UTR	NM_001030059.1	NP_001025230.1	Q5VZY2	PPC1A_HUMAN	phosphatidic acid phosphatase type 2 domain containing 1A	196	Phosphatase sequence motif III.				phospholipid dephosphorylation	integral to membrane	phosphatidate phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	20		Lung NSC(174;0.1)|all_lung(145;0.132)		all cancers(201;0.0117)		GCCCTGTCCCGCATGTGCGAC	0.607													A	122334784	G	A	122334784	3	1	429	1	0	0	0	0	1	0	0	0	12370	1087	38	1	609	1	PPAPDC1A	10	122334784	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	23410168	122334784	13199963	68	42353											
MUC5B	727897	broad.mit.edu	37	chr11	1269713	1269713	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactaccaaagtgccgactaCcacaaccacgggcttcacag	13	5	7	16	2	1	0	1	0	0	0	1	1	1	0	4	1	4	1	4	1	4	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:1269713C>G	ENST00000447027.1	+	31	11670	c.11612C>G	c.(11611-11613)aCc>aGc	p.T3871S	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T3868S			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3868	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GTGCCGACTACCACAACCACG	0.637													G	1269713	C	G	1269713	3	3	429	1	0	0	0	0	1	0	0	0	10055	507	18	4	11734	4	MUC5B	11	1269713	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		1269713	133736803	69	42354											
SLC22A18	5002	broad.mit.edu	37	chr11	2940615	2940615	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaagctggctacctcatgtCcttcttcgggctcctccaga	6	11	8	16	1	2	1	1	0	1	1	6	1	5	1	5	2	2	3	5	2	2	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:2940615C>G	ENST00000380574.1	+	8	1273	c.842C>G	c.(841-843)tCc>tGc	p.S281C	SLC22A18_ENST00000312221.5_Missense_Mutation_p.S281C|SLC22A18_ENST00000449793.2_Missense_Mutation_p.S183C|SLC22A18_ENST00000347936.2_Missense_Mutation_p.S281C|SLC22A18_ENST00000441077.1_3'UTR			Q96BI1	S22AI_HUMAN	solute carrier family 22, member 18	281					excretion|organic cation transport	apical plasma membrane|cytoplasmic part|integral to membrane|nuclear envelope	drug:hydrogen antiporter activity|symporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	8		all_epithelial(84;0.000124)|Medulloblastoma(188;0.00106)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)|all_lung(207;0.198)		BRCA - Breast invasive adenocarcinoma(625;0.00256)|LUSC - Lung squamous cell carcinoma(625;0.192)		TACCTCATGTCCTTCTTCGGG	0.632													G	2940615	C	G	2940615	3	3	429	1	0	0	0	0	1	0	0	0	14543	855	30	4	868	4	SLC22A18	11	2940615	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	1670902	2940615	132065901	70	42355											
ZNF143	7702	broad.mit.edu	37	chr11	9519288	9519288	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatcggtgttcggaagataAttgtactaaatctttcaaaa	15	14	7	5	2	2	1	1	0	1	1	4	2	2	2	0	2	1	2	0	2	8	7			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:9519288A>C	ENST00000396602.2	+	10	1027	c.908A>C	c.(907-909)aAt>aCt	p.N303T	ZNF143_ENST00000396604.1_Missense_Mutation_p.N302T|ZNF143_ENST00000299606.2_Missense_Mutation_p.N275T|ZNF143_ENST00000396597.3_Missense_Mutation_p.N272T|ZNF143_ENST00000530463.1_Missense_Mutation_p.N302T	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	303					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		TCGGAAGATAATTGTACTAAA	0.308													C	9519288	A	C	9519288	3	2	429	1	0	0	0	0	1	0	0	0	17833	101	4	5	942	5	ZNF143	11	9519288	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	6578673	9519288	125487228	71	42356											
CCDC73	493860	broad.mit.edu	37	chr11	32635985	32635985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagacgagtccaaatctgCtttggtttggtcactatttg	9	15	10	7	1	2	1	1	0	1	1	3	3	3	1	1	2	1	2	1	2	3	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:32635985C>T	ENST00000335185.5	-	16	1922	c.1879G>A	c.(1879-1881)Gca>Aca	p.A627T		NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	627										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					TCCAAATCTGCTTTGGTTTGG	0.343													T	32635985	C	T	32635985	3	4	429	1	0	0	0	0	1	0	0	0	2874	797	28	2	1372	2	CCDC73	11	32635985	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	23116697	32635985	102370531	72	42357											
OR4B1	119765	broad.mit.edu	37	chr11	48238763	48238763	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcattatatgaacattatCagtcgtcaactgtgtcacct	11	15	5	10	1	4	1	4	1	0	0	5	1	4	1	1	0	2	0	1	0	5	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:48238763C>G	ENST00000309562.2	+	1	420	c.402C>G	c.(400-402)atC>atG	p.I134M		NM_001005470.1	NP_001005470.1	Q8NGF8	OR4B1_HUMAN	olfactory receptor, family 4, subfamily B, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	28						TGAACATTATCAGTCGTCAAC	0.463													G	48238763	C	G	48238763	3	3	429	1	0	0	0	0	1	0	0	0	11120	816	29	4	404	4	OR4B1	11	48238763	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	15602778	48238763	86767753	73	42358											
MS4A12	54860	broad.mit.edu	37	chr11	60274258	60274258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccctcttggagttcttcGtagcttgtgccacagcccat	5	14	8	14	1	3	0	0	0	3	0	5	1	3	1	3	1	3	3	3	1	1	5	rs147008825	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:60274258G>A	ENST00000016913.4	+	6	703	c.646G>A	c.(646-648)Gta>Ata	p.V216I	MS4A12_ENST00000537076.1_Missense_Mutation_p.V170I	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	216						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						GGAGTTCTTCGTAGCTTGTGC	0.423													A	60274258	G	A	60274258	3	1	429	1	0	0	0	0	1	0	0	0	9932	1145	40	1	664	1	MS4A12	11	60274258	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	12035495	60274258	74732258	74	42359											
IGHMBP2	3508	broad.mit.edu	37	chr11	68682348	68682348	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atctggtggagcgcctggctCtgtgtaagcagcggattctg	6	11	15	9	2	3	0	0	0	3	0	3	2	3	2	1	4	3	3	1	4	1	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:68682348C>G	ENST00000255078.3	+	6	880	c.769C>G	c.(769-771)Ctg>Gtg	p.L257V	IGHMBP2_ENST00000539224.1_3'UTR	NM_002180.2	NP_002171.2	P38935	SMBP2_HUMAN	immunoglobulin mu binding protein 2	257	Leu-rich.				cell death|DNA recombination|DNA repair|DNA replication|protein homooligomerization|transcription, DNA-dependent|translation	axon|growth cone|nucleus|ribonucleoprotein complex	ATP binding|ATP-dependent 5'-3' DNA helicase activity|ATP-dependent 5'-3' RNA helicase activity|ribosome binding|single-stranded DNA binding|transcription factor binding|tRNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|liver(1)|lung(15)|ovary(2)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			GCGCCTGGCTCTGTGTAAGCA	0.592													G	68682348	C	G	68682348	3	3	429	1	0	0	0	0	1	0	0	0	7649	912	32	4	791	4	IGHMBP2	11	68682348	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	8408090	68682348	66324168	75	42360											
CCND1	595	broad.mit.edu	37	chr11	69458623	69458623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggagctgctcctggtgaaCaagctcaagtggaacctggc	10	8	13	10	0	1	1	1	1	0	0	2	3	2	3	2	4	5	3	2	4	4	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:69458623C>G	ENST00000227507.2	+	3	665	c.438C>G	c.(436-438)aaC>aaG	p.N146K	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	146	Cyclin N-terminal.				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	TCCTGGTGAACAAGCTCAAGT	0.622			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			G	69458623	C	G	69458623	3	3	429	1	0	0	0	0	1	0	0	0	2946	477	17	4	448	4	CCND1	11	69458623	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	776275	69458623	65547893	76	42361											
FOLR4	390243	broad.mit.edu	37	chr11	94038838	94038838	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgctcctgctagagctgtgGacagtcatgcccacctgggc	6	8	12	15	1	1	1	1	0	0	1	2	2	2	2	4	2	3	3	4	2	1	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:94038838G>A	ENST00000440961.2	+	1	80	c.36G>A	c.(34-36)tgG>tgA	p.W12*		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	12						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						TAGAGCTGTGGACAGTCATGC	0.577													A	94038838	G	A	94038838	4	1	429	1	0	0	0	0	0	1	0	0	6033	1183	41	2	38	2	FOLR4	11	94038838	Nonsense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	24580215	94038838	40967678	77	42362											
C11orf63	79864	broad.mit.edu	37	chr11	122805551	122805554	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															actctgggctgaatgttaatAaagaaagaggacacaaagac																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr11:122805551_122805554delAAAG	ENST00000227349.2	+	5	1699_1702	c.1402_1405delAAAG	c.(1402-1407)aaagaafs	p.KE468fs	C11orf63_ENST00000531316.1_Frame_Shift_Del_p.KE468fs	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	468										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		GAATGTTAATAAAGAAAGAGGACA	0.377													-	122805554	AAAG	-	122805551	7	5	429	1	0	1	0	1	0	0	0	0	1666	363	13	0	1480	0	C11orf63	11	122805551	Frame_Shift_Del	DEL	AAAG	TCGA-DU-A7T6-01A-11D-A33T-08	28766713	122805551	12200965	78	42363											
VWF	7450	broad.mit.edu	37	chr12	6103064	6103064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagtcaacgcagacccCgttggtccgacagaggtggg	8	6	13	14	3	1	2	1	0	0	2	3	3	3	2	5	3	1	2	5	3	1	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:6103064C>T	ENST00000261405.5	-	37	6816	c.6562G>A	c.(6562-6564)Ggg>Agg	p.G2188R		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2188					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	ACGCAGACCCCGTTGGTCCGA	0.557													T	6103064	C	T	6103064	3	4	429	1	0	0	0	0	1	0	0	0	17348	652	23	1	1943	1	VWF	12	6103064	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		6103064	127748831	79	42364											
ZDHHC17	23390	broad.mit.edu	37	chr12	77242026	77242026	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttagactggggactccaCtgtgagaccacttacaccaa	11	9	9	12	0	0	2	0	1	0	2	1	4	1	3	3	2	1	1	3	2	3	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:77242026C>G	ENST00000426126.2	+	15	2170	c.1521C>G	c.(1519-1521)caC>caG	p.H507Q	ZDHHC17_ENST00000550789.1_3'UTR|ZDHHC17_ENST00000334822.5_Missense_Mutation_p.H507Q	NM_015336.2	NP_056151.2	Q8IUH5	ZDH17_HUMAN	zinc finger, DHHC-type containing 17	507					lipoprotein transport|positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|protein binding|protein-cysteine S-palmitoleyltransferase activity|signal transducer activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(3)|liver(2)|lung(14)	23						GGGGACTCCACTGTGAGACCA	0.428													G	77242026	C	G	77242026	3	3	429	1	0	0	0	0	1	0	0	0	17708	564	20	4	1579	4	ZDHHC17	12	77242026	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	71138962	77242026	56609869	80	42365											
RAB35	11021	broad.mit.edu	37	chr12	120546229	120546229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggactcacctgagaaaGtgttgtctgcaaaacgcaac	13	7	12	9	1	2	1	1	1	1	1	2	4	2	3	1	2	3	3	1	2	4	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:120546229G>C	ENST00000229340.5	-	2	283	c.95C>G	c.(94-96)aCt>aGt	p.T32S	RAB35_ENST00000534951.1_Missense_Mutation_p.T32S	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	32					cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		ACCTGAGAAAGTGTTGTCTGC	0.572													C	120546229	G	C	120546229	3	2	429	1	0	0	0	0	1	0	0	0	13013	1029	36	4	530	4	RAB35	12	120546229	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43304203	120546229	13305666	81	42366											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123678974	123678974	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgttttagttgagcttcttTatcatctgagagtttgtaag	8	20	9	4	0	3	2	1	2	2	1	3	3	3	2	0	0	1	5	0	0	3	9			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr12:123678974T>C	ENST00000606320.1	-	13	2406	c.2200A>G	c.(2200-2202)Aaa>Gaa	p.K734E	MPHOSPH9_ENST00000541076.2_Missense_Mutation_p.K704E|MPHOSPH9_ENST00000302349.5_Missense_Mutation_p.K582E|MPHOSPH9_ENST00000392425.3_Missense_Mutation_p.K582E			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	582					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		TGAGCTTCTTTATCATCTGAG	0.308													C	123678974	T	C	123678974	3	2	429	1	0	0	0	0	1	0	0	0	9804	1763	61	3	1399	3	MPHOSPH9	12	123678974	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	3132745	123678974	10172921	82	42367											
ATP8A2	51761	broad.mit.edu	37	chr13	26411376	26411376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggagagcatgctcaggtttCcccagctctacaaaatcacc	12	8	8	13	0	3	1	2	0	1	1	4	2	4	1	3	2	4	4	3	2	3	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:26411376C>T	ENST00000381655.2	+	29	2972	c.2830C>T	c.(2830-2832)Ccc>Tcc	p.P944S	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Missense_Mutation_p.P879S	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	904					ATP biosynthetic process|negative regulation of cell proliferation	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.P944S(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		GCTCAGGTTTCCCCAGCTCTA	0.493													T	26411376	C	T	26411376	3	4	429	1	0	0	0	0	1	0	0	0	1198	855	30	2	2944	2	ATP8A2	13	26411376	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		26411376	88758502	83	42368											
DIAPH3	81624	broad.mit.edu	37	chr13	60490363	60490363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatttcctcatatggcacccGaaaagagctcaggaagattg	13	9	10	9	1	2	2	2	0	0	2	3	5	3	3	2	2	1	2	2	2	4	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:60490363G>A	ENST00000400324.4	-	19	2411	c.2191C>T	c.(2191-2193)Cgg>Tgg	p.R731W	DIAPH3_ENST00000400330.1_Missense_Mutation_p.R731W|DIAPH3_ENST00000267215.4_Missense_Mutation_p.R731W|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.R685W|DIAPH3_ENST00000377908.2_Missense_Mutation_p.R720W|DIAPH3_ENST00000400319.1_Missense_Mutation_p.R661W	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	731	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TATGGCACCCGAAAAGAGCTC	0.343													A	60490363	G	A	60490363	3	1	429	1	0	0	0	0	1	0	0	0	4559	1057	37	1	1450	1	DIAPH3	13	60490363	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	34078987	60490363	54679515	84	42369											
MYO16	23026	broad.mit.edu	37	chr13	109777629	109777629	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attgcccgggaaaatgaccgGctccgtagtgaaatgaacgc	12	7	12	10	4	0	3	0	3	0	0	1	4	1	4	3	2	2	2	3	2	5	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:109777629G>C	ENST00000356711.2	+	30	3765	c.3639G>C	c.(3637-3639)cgG>cgC	p.R1213R	MYO16_ENST00000457511.2_Silent_p.R725R|MYO16_ENST00000357550.2_Silent_p.R1213R	NM_015011.1	NP_055826.1	Q9Y6X6	MYO16_HUMAN	myosin XVI	1213					cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity			NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			AAAATGACCGGCTCCGTAGTG	0.473													C	109777629	G	C	109777629	2	2	429	1	0	0	0	0	0	0	0	1	10140	1190	42	4		4	MYO16	13	109777629	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	49287266	109777629	5392249	85	42370											
COL4A2	1284	broad.mit.edu	37	chr13	111109707	111109707	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggcttcctgtttgggctgAaaggagcaaaaggaagagca	13	8	14	6	0	0	2	0	1	0	1	1	4	1	4	1	4	2	5	1	4	5	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr13:111109707A>G	ENST00000360467.5	+	21	1663	c.1357A>G	c.(1357-1359)Aaa>Gaa	p.K453E	COL4A2-AS2_ENST00000458403.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	453	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			GTTTGGGCTGAAAGGAGCAAA	0.632													G	111109707	A	G	111109707	3	3	429	1	0	0	0	0	1	0	0	0	3721	247	9	3	1435	3	COL4A2	13	111109707	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	1332078	111109707	4060171	86	42371											
OR4N5	390437	broad.mit.edu	37	chr14	20612565	20612565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcagtcatcctctgtcGtataagggagcactcctctg	8	12	9	12	1	3	0	1	0	2	0	6	1	5	1	2	1	2	3	2	1	3	3	rs143406902	by1000genomes	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:20612565G>A	ENST00000333629.1	+	1	671	c.671G>A	c.(670-672)cGt>cAt	p.R224H		NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ATCCTCTGTCGTATAAGGGAG	0.483													A	20612565	G	A	20612565	3	1	429	1	0	0	0	0	1	0	0	0	11155	1145	40	1	673	1	OR4N5	14	20612565	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		20612565	86736975	87	42372											
CTSG	1511	broad.mit.edu	37	chr14	25043978	25043978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgctgggtgttttcccgtCtctggatattgtgggcgccc	2	15	14	10	2	1	0	0	0	1	0	3	1	2	1	2	3	1	3	2	3	1	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:25043978C>G	ENST00000216336.2	-	3	278	c.242G>C	c.(241-243)aGa>aCa	p.R81T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	81	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity			autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		GTTTTCCCGTCTCTGGATATT	0.527													G	25043978	C	G	25043978	3	3	429	1	0	0	0	0	1	0	0	0	4068	913	32	4	537	4	CTSG	14	25043978	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	4431413	25043978	82305562	88	42373											
SEL1L	6400	broad.mit.edu	37	chr14	81950595	81950595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccagtcctttctcatGcatatatcccagattaaaca	13	12	4	12	0	1	1	1	0	1	1	4	1	3	1	3	0	3	1	3	0	5	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:81950595G>A	ENST00000336735.4	-	19	2136	c.2020C>T	c.(2020-2022)Cat>Tat	p.H674Y		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	674	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		CCTTTCTCATGCATATATCCC	0.393													A	81950595	G	A	81950595	3	1	429	1	0	0	0	0	1	0	0	0	14103	1319	46	2	376	2	SEL1L	14	81950595	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	56906617	81950595	25398945	89	42374											
SERPINA1	5265	broad.mit.edu	37	chr14	94849110	94849110	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacaactttttaacatcctcCaaaaacttatccactagctt	14	14	1	12	0	0	0	0	0	0	0	3	0	3	0	3	0	5	1	3	0	7	7			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:94849110C>T	ENST00000448921.1	-	4	1037	c.465G>A	c.(463-465)ttG>ttA	p.L155L	SERPINA1_ENST00000402629.1_Silent_p.L155L|SERPINA1_ENST00000449399.3_Silent_p.L155L|SERPINA1_ENST00000393087.4_Silent_p.L155L|SERPINA1_ENST00000437397.1_Silent_p.L155L|SERPINA1_ENST00000404814.4_Silent_p.L155L|SERPINA1_ENST00000393088.4_Silent_p.L155L|SERPINA1_ENST00000440909.1_Silent_p.L155L|SERPINA1_ENST00000355814.4_Silent_p.L155L	NM_001002236.2|NM_001127701.1|NM_001127703.1|NM_001127704.1|NM_001127705.1	NP_001002236.1|NP_001121173.1|NP_001121175.1|NP_001121176.1|NP_001121177.1	P01009	A1AT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1	155					acute-phase response|platelet activation|platelet degranulation|regulation of proteolysis	extracellular space|platelet alpha granule lumen|proteinaceous extracellular matrix	protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|skin(6)|stomach(1)	24		all_cancers(154;0.0649)|all_epithelial(191;0.223)		Epithelial(152;0.135)|COAD - Colon adenocarcinoma(157;0.207)|all cancers(159;0.221)	Alpha-1-proteinase inhibitor(DB00058)	TAACATCCTCCAAAAACTTAT	0.522													T	94849110	C	T	94849110	2	4	429	1	0	0	0	0	0	0	0	1	14179	593	21	2		2	SERPINA1	14	94849110	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	12898515	94849110	12500430	90	42375											
CRIP2	1397	broad.mit.edu	37	chr14	105945517	105945517	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccctgcctgcgctgcgaGcgctgcgggaagacactgac	6	5	15	15	5	0	2	0	1	0	1	0	4	0	3	2	2	5	2	2	2	1	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr14:105945517G>C	ENST00000329146.4	+	6	1175	c.462G>C	c.(460-462)gaG>gaC	p.E154D	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Missense_Mutation_p.E228D	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	154	LIM zinc-binding 2.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		TGCGCTGCGAGCGCTGCGGGA	0.751													C	105945517	G	C	105945517	3	2	429	1	0	0	0	0	1	0	0	0	3906	962	34	4	484	4	CRIP2	14	105945517	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	11096407	105945517	1404023	91	42376											
RYR3	6263	broad.mit.edu	37	chr15	33955887	33955887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggccctgaacatgtctgcGgccctgactgcccggaagac	8	6	12	15	2	1	3	0	2	1	1	1	4	1	4	3	3	3	0	3	3	2	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:33955887G>A	ENST00000389232.4	+	36	5638	c.5568G>A	c.(5566-5568)gcG>gcA	p.A1856A	RYR3_ENST00000415757.3_Silent_p.A1856A	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1856	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		ACATGTCTGCGGCCCTGACTG	0.552													A	33955887	G	A	33955887	2	1	429	1	0	0	0	0	0	0	0	1	13861	1103	39	1		1	RYR3	15	33955887	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		33955887	68575505	92	42377											
RFX7	64864	broad.mit.edu	37	chr15	56395801	56395801	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccttcatgtttggaaagaCgtttttcatgatctttccaa	9	17	7	8	1	3	2	2	1	1	1	4	3	4	3	2	1	1	2	2	1	2	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:56395801C>G	ENST00000423270.1	-	5	468	c.469G>C	c.(469-471)Gtc>Ctc	p.V157L	RFX7_ENST00000559447.2_Missense_Mutation_p.V60L|RFX7_ENST00000317318.6_Missense_Mutation_p.V157L|RFX7_ENST00000422057.1_Missense_Mutation_p.V60L	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	60					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TTTGGAAAGACGTTTTTCATG	0.393													G	56395801	C	G	56395801	3	3	429	1	0	0	0	0	1	0	0	0	13356	536	19	4	3933	4	RFX7	15	56395801	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	22439914	56395801	46135591	93	42378											
IGF1R	3480	broad.mit.edu	37	chr15	99500523	99500523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctccctgccactgcccgacaGacactcaggacacaaggccg	10	4	9	18	2	1	1	1	0	0	1	2	3	2	2	4	2	2	0	4	2	1	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr15:99500523G>C	ENST00000268035.6	+	21	4567	c.3956G>C	c.(3955-3957)aGa>aCa	p.R1319T	RP11-654A16.3_ENST00000559468.1_RNA|IGF1R_ENST00000558762.1_Missense_Mutation_p.R1318T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1319					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CTGCCCGACAGACACTCAGGA	0.687													C	99500523	G	C	99500523	3	2	429	1	0	0	0	0	1	0	0	0	7629	942	33	4	4038	4	IGF1R	15	99500523	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43104722	99500523	3030869	94	42379											
PKD1	5310	broad.mit.edu	37	chr16	2159762	2159762	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccctgatgctgaggccactCacaggcacctgcacatccac	9	6	9	17	0	1	2	1	2	0	0	2	2	2	2	4	2	2	3	4	2	0	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:2159762C>G	ENST00000262304.4	-	15	5614	c.5406G>C	c.(5404-5406)gtG>gtC	p.V1802V	PKD1_ENST00000423118.1_Silent_p.V1802V	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1802	PKD 13.				calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TGAGGCCACTCACAGGCACCT	0.667													G	2159762	C	G	2159762	2	3	429	1	0	0	0	0	0	0	0	1	12040	813	29	4		4	PKD1	16	2159762	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		2159762	88194991	95	42380											
UBFD1	56061	broad.mit.edu	37	chr16	23569512	23569512	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agggagctggtggacttgaaGatcatctggaataagaccaa	14	8	13	6	0	2	3	1	1	1	2	2	6	2	6	1	4	1	1	1	4	4	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:23569512G>C	ENST00000395878.3	+	2	648	c.267G>C	c.(265-267)aaG>aaC	p.K89N	UBFD1_ENST00000567264.1_Missense_Mutation_p.K89N|UBFD1_ENST00000571064.1_3'UTR|UBFD1_ENST00000219638.4_Missense_Mutation_p.K313N|UBFD1_ENST00000567212.1_Missense_Mutation_p.K80N	NM_019116.2	NP_061989.2	O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	89	Ubiquitin-like.									endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		TGGACTTGAAGATCATCTGGA	0.637													C	23569512	G	C	23569512	3	2	429	1	0	0	0	0	1	0	0	0	16986	933	33	4	273	4	UBFD1	16	23569512	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	21409750	23569512	66785241	96	42381											
IL4R	3566	broad.mit.edu	37	chr16	27374364	27374364	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctccagcatggggcagCtgcagcccccgtctcggccc	4	7	12	18	2	1	0	0	0	1	0	4	0	3	0	5	3	4	4	5	3	0	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:27374364C>A	ENST00000395762.2	+	11	1950	c.1691C>A	c.(1690-1692)gCt>gAt	p.A564D	IL4R_ENST00000543915.2_Missense_Mutation_p.A564D|IL4R_ENST00000170630.2_Missense_Mutation_p.A564D|IL4R_ENST00000380922.3_Missense_Mutation_p.A549D	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	564	Poly-Ala.|Required for IL4-induced gene expression.				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						CATGGGGCAGCTGCAGCCCCC	0.657													A	27374364	C	A	27374364	3	1	429	1	0	0	0	0	1	0	0	0	7756	797	28	4	1743	4	IL4R	16	27374364	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3804852	27374364	62980389	97	42382											
SIAH1	6477	broad.mit.edu	37	chr16	48399314	48399314	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ataccttttctcttccttgtCctggccgctggtaaacatgt	6	16	7	12	1	1	0	0	0	1	0	4	0	3	0	4	2	2	2	4	2	3	6			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:48399314C>T	ENST00000356721.3	-	1	498	c.75G>A	c.(73-75)agG>agA	p.R25R	SIAH1_ENST00000573005.1_5'UTR|SIAH1_ENST00000394725.2_Intron	NM_001006610.1	NP_001006611.1	Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	0					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				TCTTCCTTGTCCTGGCCGCTG	0.498													T	48399314	C	T	48399314	2	4	429	1	0	0	0	0	0	0	0	1	14393	854	30	2		2	SIAH1	16	48399314	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	21024950	48399314	41955439	98	42383											
CDH8	1006	broad.mit.edu	37	chr16	61687749	61687749	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacatttataaattcatcGacatcaacaccatttggaac	15	13	3	10	1	2	0	2	0	0	0	3	2	2	1	1	1	3	0	1	1	6	6			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:61687749G>T	ENST00000577390.1	-	12	3117	c.2163C>A	c.(2161-2163)gtC>gtA	p.V721V	CDH8_ENST00000299345.6_Intron|CDH8_ENST00000577730.1_Intron	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	721					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V721V(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		TAAATTCATCGACATCAACAC	0.443													T	61687749	G	T	61687749	2	4	429	1	0	0	0	0	0	0	0	1	3146	1045	37	4		4	CDH8	16	61687749	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	13288435	61687749	28667004	99	42384											
LRRC36	55282	broad.mit.edu	37	chr16	67401214	67401214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaagtcttggtaaaaGgcctcagagaagcaagaact	15	7	12	7	0	2	2	1	0	1	2	2	4	2	3	1	3	2	3	1	3	6	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:67401214G>A	ENST00000329956.6	+	8	1068	c.1049G>A	c.(1048-1050)aGg>aAg	p.R350K	LRRC36_ENST00000541146.1_Intron|LRRC36_ENST00000290940.7_Missense_Mutation_p.R82K|LRRC36_ENST00000435835.3_Missense_Mutation_p.R229K|LRRC36_ENST00000563189.1_Missense_Mutation_p.R229K	NM_018296.5	NP_060766.5	Q1X8D7	LRC36_HUMAN	leucine rich repeat containing 36	350										endometrium(4)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	24		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0669)|Epithelial(162;0.161)		CTTGGTAAAAGGCCTCAGAGA	0.408													A	67401214	G	A	67401214	3	1	429	1	0	0	0	0	1	0	0	0	9060	1000	35	2	1107	2	LRRC36	16	67401214	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	5713465	67401214	22953539	100	42385											
CLEC18A	348174	broad.mit.edu	37	chr16	69988452	69988452	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaggagagtgtgctcgcaaCgccacctgcacccactacac	10	5	10	16	2	0	1	0	0	0	1	1	2	0	1	3	1	4	4	3	1	2	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:69988452C>T	ENST00000288040.6	+	3	619	c.432C>T	c.(430-432)aaC>aaT	p.N144N	CLEC18A_ENST00000393701.2_Silent_p.N144N|CLEC18A_ENST00000568461.1_Silent_p.N144N|CLEC18A_ENST00000449317.2_Silent_p.N144N	NM_001136214.2	NP_001129686.1	A5D8T8	CL18A_HUMAN	C-type lectin domain family 18, member A	144	SCP.					extracellular region	sugar binding			NS(1)|endometrium(2)|lung(1)|skin(1)	5						GTGCTCGCAACGCCACCTGCA	0.612													T	69988452	C	T	69988452	2	4	429	1	0	0	0	0	0	0	0	1	3533	535	19	1		1	CLEC18A	16	69988452	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2587238	69988452	20366301	101	42386											
ST3GAL2	6483	broad.mit.edu	37	chr16	70432112	70432112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatccaccacctctggaCgtccggtggaagatccatgt	9	9	9	14	2	1	1	0	0	1	1	4	3	4	3	6	3	1	0	6	3	2	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr16:70432112C>A	ENST00000393640.4	-	1	2429	c.322G>T	c.(322-324)Gtc>Ttc	p.V108F	RP11-529K1.4_ENST00000566960.1_RNA|ST3GAL2_ENST00000342907.2_Missense_Mutation_p.V108F			Q16842	SIA4B_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 2	108					amino sugar metabolic process	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	11		Ovarian(137;0.0694)				CACCTCTGGACGTCCGGTGGA	0.592													A	70432112	C	A	70432112	3	1	429	1	0	0	0	0	1	0	0	0	15311	536	19	4	754	4	ST3GAL2	16	70432112	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	443660	70432112	19922641	102	42387											
DNAH9	1770	broad.mit.edu	37	chr17	11607666	11607666	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttatcaccatgctgattggCcagctctccaagggagaccg	9	9	10	13	1	2	2	1	1	1	1	3	3	2	2	4	2	2	2	4	2	2	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:11607666C>T	ENST00000262442.4	+	25	5366	c.5298C>T	c.(5296-5298)ggC>ggT	p.G1766G	DNAH9_ENST00000454412.2_Silent_p.G1766G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TGCTGATTGGCCAGCTCTCCA	0.512													T	11607666	C	T	11607666	2	4	429	1	0	0	0	0	0	0	0	1	4647	726	26	2		2	DNAH9	17	11607666	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		11607666	69587544	103	42388											
MYO15A	51168	broad.mit.edu	37	chr17	18055210	18055210	+	Frame_Shift_Del	DEL	C	C	-																															gccagaccctcatgaggaggCcctgatgatcctgaaagggc																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:18055210delC	ENST00000205890.5	+	41	8176	c.7838delC	c.(7837-7839)gccfs	p.A2613fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2613	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CATGAGGAGGCCCTGATGATC	0.597													-	18055210	C	-	18055210	7	5	429	1	0	1	0	1	0	0	0	0	10139	739	26	0	7992	0	MYO15A	17	18055210	Frame_Shift_Del	DEL	C	TCGA-DU-A7T6-01A-11D-A33T-08	6447544	18055210	63140000	104	42389											
KRT36	8689	broad.mit.edu	37	chr17	39646040	39646040	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacggatggaggacacccgaGagatgccgcctgctgtgcca	10	5	14	12	3	0	1	0	0	0	1	0	6	0	4	4	3	4	1	4	3	1	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:39646040G>C	ENST00000328119.6	-	1	76	c.77C>G	c.(76-78)tCt>tGt	p.S26C	KRT36_ENST00000393986.2_Intron	NM_003771.4	NP_003762.1	O76013	KRT36_HUMAN	keratin 36	26	Head.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				GGACACCCGAGAGATGCCGCC	0.627													C	39646040	G	C	39646040	3	2	429	1	0	0	0	0	1	0	0	0	8531	942	33	4	1354	4	KRT36	17	39646040	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	21590830	39646040	41549170	105	42390											
C17orf53	78995	broad.mit.edu	37	chr17	42225301	42225301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaatgctgggcgcctgagaCctgtctcttctaggccacag	7	10	12	12	1	2	2	0	2	2	1	3	3	2	2	3	2	1	1	3	2	2	2	rs147787171	byFrequency	TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:42225301C>T	ENST00000319977.4	+	3	367	c.130C>T	c.(130-132)Cct>Tct	p.P44S	C17orf53_ENST00000585683.1_Missense_Mutation_p.P44S|C17orf53_ENST00000245382.6_Missense_Mutation_p.P44S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	44										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCGCCTGAGACCTGTCTCTTC	0.567													T	42225301	C	T	42225301	3	4	429	1	0	0	0	0	1	0	0	0	1878	507	18	2	140	2	C17orf53	17	42225301	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2579261	42225301	38969909	106	42391											
NPEPPS	9520	broad.mit.edu	37	chr17	45668227	45668227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cccaggagcttgacgccttaGataacagccatcctattgaa	12	9	8	12	1	0	3	0	2	0	1	1	4	1	4	4	1	3	1	4	1	4	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:45668227G>A	ENST00000322157.4	+	10	1477	c.1240G>A	c.(1240-1242)Gat>Aat	p.D414N	NPEPPS_ENST00000525037.1_3'UTR|NPEPPS_ENST00000544660.1_Missense_Mutation_p.D334N|NPEPPS_ENST00000530173.1_Missense_Mutation_p.D410N	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	414					proteolysis	cytosol|nucleus	aminopeptidase activity|metallopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						TGACGCCTTAGATAACAGCCA	0.403													A	45668227	G	A	45668227	3	1	429	1	0	0	0	0	1	0	0	0	10651	942	33	2	1278	2	NPEPPS	17	45668227	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	3442926	45668227	35526983	107	42392											
MED13	9969	broad.mit.edu	37	chr17	60140431	60140431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaagtttctttcacctgAtaagtcatggtgaataaggt	12	14	10	5	0	3	2	2	2	1	0	3	3	3	3	1	3	0	1	1	3	4	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:60140431A>G	ENST00000397786.2	-	2	374	c.298T>C	c.(298-300)Tca>Cca	p.S100P		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	100					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTTCACCTGATAAGTCATGG	0.383													G	60140431	A	G	60140431	3	3	429	1	0	0	0	0	1	0	0	0	9505	333	12	3	6342	3	MED13	17	60140431	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	14472204	60140431	21054779	108	42393											
TANC2	26115	broad.mit.edu	37	chr17	61483525	61483525	+	Frame_Shift_Del	DEL	T	T	-																															gcacttgcagattgttgatcTtttactcacccatggagctg																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:61483525delT	ENST00000424789.2	+	19	3258	c.3254delT	c.(3253-3255)cttfs	p.L1087fs	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Frame_Shift_Del_p.L1087fs	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1087							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATTGTTGATCTTTTACTCACC	0.502											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	61483525	T	-	61483525	7	5	429	1	0	1	0	1	0	0	0	0	15642	1609	56	0	3328	0	TANC2	17	61483525	Frame_Shift_Del	DEL	T	TCGA-DU-A7T6-01A-11D-A33T-08	1343094	61483525	19711685	109	42394											
BAHCC1	57597	broad.mit.edu	37	chr17	79428112	79428116	+	Frame_Shift_Del	DEL	GCACA	GCACA	-																															cgcgaggccctgttccccgtGcacagcgtggccacacccat																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr17:79428112_79428116delGCACA	ENST00000307745.7	+	30	6423_6427	c.6423_6427delGCACA	c.(6421-6429)gtgcacagcfs	p.HS2142fs	RP11-1055B8.8_ENST00000572590.1_RNA																							TGTTCCCCGTGCACAGCGTGGCCAC	0.707													-	79428116	GCACA	-	79428112	7	5	429	1	0	1	0	1	0	0	0	0	1301	1306	46	0	6356	0	BAHCC1	17	79428112	Frame_Shift_Del	DEL	GCACA	TCGA-DU-A7T6-01A-11D-A33T-08	17944587	79428112	1767098	110	42395											
ZNF407	55628	broad.mit.edu	37	chr18	72775721	72775721	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgaggagcaaggcaggcccgGcgccaaagacgtgctgatcc	10	3	15	13	4	0	2	0	1	0	1	1	4	1	3	3	4	2	3	3	4	2	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr18:72775721G>C	ENST00000299687.5	+	8	6044	c.6044G>C	c.(6043-6045)gGc>gCc	p.G2015A		NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	2015					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GGCAGGCCCGGCGCCAAAGAC	0.677													C	72775721	G	C	72775721	3	2	429	1	0	0	0	0	1	0	0	0	17988	1203	42	4	6204	4	ZNF407	18	72775721	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		72775721	5301527	111	42396											
S1PR4	8698	broad.mit.edu	37	chr19	3179151	3179151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccgcccagtggttcctaCgggagggcctgctcttcacc	4	8	12	17	3	2	0	1	0	1	0	3	1	3	1	5	3	2	2	5	3	1	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:3179151C>T	ENST00000246115.3	+	1	416	c.361C>T	c.(361-363)Cgg>Tgg	p.R121W	S1PR4_ENST00000591346.1_Intron	NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	121					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity			breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGGTTCCTACGGGAGGGCCT	0.701													T	3179151	C	T	3179151	3	4	429	1	0	0	0	0	1	0	0	0	13887	527	19	1	363	1	S1PR4	19	3179151	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		3179151	55949832	112	42397											
TNFSF14	8740	broad.mit.edu	37	chr19	6664977	6664977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaagaccgggtaccatcaCgcagtcgaaccaggcgttca	12	6	11	12	4	2	1	2	0	0	1	3	2	2	1	3	2	2	4	3	2	3	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:6664977C>T	ENST00000326176.9	-	5	956	c.575G>A	c.(574-576)cGt>cAt	p.R192H	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R228H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R192H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	228					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						GGTACCATCACGCAGTCGAAC	0.602													T	6664977	C	T	6664977	3	4	429	1	0	0	0	0	1	0	0	0	16407	536	19	1	43	1	TNFSF14	19	6664977	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	3485826	6664977	52464006	113	42398											
MUC16	94025	broad.mit.edu	37	chr19	9089401	9089401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctgagagtgaggacaCtccctgctgtctcttcccct	6	11	11	13	0	1	2	0	2	1	1	4	4	3	3	3	2	2	2	3	2	0	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:9089401C>G	ENST00000397910.4	-	1	2617	c.2414G>C	c.(2413-2415)aGt>aCt	p.S805T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	805	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						AGTGAGGACACTCCCTGCTGT	0.512													G	9089401	C	G	9089401	3	3	429	1	0	0	0	0	1	0	0	0	10049	565	20	4	41445	4	MUC16	19	9089401	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2424424	9089401	50039582	114	42399											
ZNF823	55552	broad.mit.edu	37	chr19	11833735	11833735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcgtgcaaatgaaataaaCtgggccaaacaaaggctttc	15	10	8	8	1	0	1	0	1	0	0	2	1	0	1	1	2	3	2	1	2	6	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:11833735C>G	ENST00000341191.6	-	4	767	c.614G>C	c.(613-615)aGt>aCt	p.S205T	ZNF823_ENST00000545749.1_Missense_Mutation_p.S23T	NM_001080493.2	NP_001073962.1	P16415	ZN823_HUMAN	zinc finger protein 823	205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)	26						ATGAAATAAACTGGGCCAAAC	0.418										HNSCC(68;0.2)			G	11833735	C	G	11833735	3	3	429	1	0	0	0	0	1	0	0	0	18278	565	20	4	1222	4	ZNF823	19	11833735	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2744334	11833735	47295248	115	42400											
CIC	23152	broad.mit.edu	37	chr19	42794734	42794735	+	Frame_Shift_Del	DEL	GT	GT	-																															ccggcgcaagagacccgaaaGtgtgggtggcctggagccac																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:42794734_42794735delGT	ENST00000572681.2	+	11	4609_4610	c.4541_4542delGT	c.(4540-4542)agtfs	p.S1514fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.S605fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.S605fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	605					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V606fs*83(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGACCCGAAAGTGTGGGTGGCC	0.673			"Mis, F, S"		oligodendroglioma								-	42794735	GT	-	42794734	7	5	429	1	0	1	0	1	0	0	0	0	3454	1029	36	0	1852	0	CIC	19	42794734	Frame_Shift_Del	DEL	GT	TCGA-DU-A7T6-01A-11D-A33T-08	30960999	42794734	16334249	116	42401											
CEACAM19	56971	broad.mit.edu	37	chr19	45176219	45176219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggactatgaaggccaagaCtgaggtccaggtagctggta	12	8	14	7	0	0	3	0	2	0	1	1	4	1	4	2	5	1	3	2	5	5	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:45176219C>T	ENST00000358777.4	+	2	887	c.407C>T	c.(406-408)aCt>aTt	p.T136I	CEACAM19_ENST00000480278.1_3'UTR|CTB-171A8.1_ENST00000590796.1_RNA|CEACAM19_ENST00000403660.3_Missense_Mutation_p.T136I	NM_001127893.1|NM_020219.3	NP_001121365.1|NP_064604.2	Q7Z692	CEA19_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 19	136						integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)	11	Lung NSC(12;0.00308)|all_lung(12;0.00806)	Prostate(69;0.0376)				AAGGCCAAGACTGAGGTCCAG	0.552													T	45176219	C	T	45176219	3	4	429	1	0	0	0	0	1	0	0	0	3220	565	20	2	413	2	CEACAM19	19	45176219	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	2381485	45176219	13952764	117	42402											
LENG8	114823	broad.mit.edu	37	chr19	54963363	54963363	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtgggagaaggcccgtcaGgccctggccagcatcagcaa	10	4	15	12	1	2	1	2	0	0	1	2	3	2	1	3	4	2	2	3	4	2	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:54963363G>A	ENST00000326764.5	+	3	611	c.132G>A	c.(130-132)caG>caA	p.Q44Q	LENG8_ENST00000376514.2_Intron	NM_052925.2	NP_443157.1	Q96PV6	LENG8_HUMAN	leukocyte receptor cluster (LRC) member 8	44							protein binding			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.139)		AGGCCCGTCAGGCCCTGGCCA	0.642													A	54963363	G	A	54963363	2	1	429	1	0	0	0	0	0	0	0	1	8783	991	35	2		2	LENG8	19	54963363	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	9787144	54963363	4165620	118	42403											
LILRA1	11024	broad.mit.edu	37	chr19	55106741	55106741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtacccatgggtggtccCgggccatcttctctgtgggc	3	10	13	15	2	2	0	0	0	2	0	4	0	3	0	4	4	1	1	4	4	1	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:55106741C>T	ENST00000453777.1	+	5	705	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000251372.3_Missense_Mutation_p.R179W|LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000396321.2_Intron	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	179	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGGTGGTCCCGGGCCATCTT	0.567													T	55106741	C	T	55106741	3	4	429	1	0	0	0	0	1	0	0	0	8844	643	23	1	549	1	LILRA1	19	55106741	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	143378	55106741	4022242	119	42404											
NLRP13	126204	broad.mit.edu	37	chr19	56443629	56443629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatcaggtaaggcagaaGcccttggttggtaccaccgt	9	8	13	11	1	1	1	1	0	0	1	1	1	1	1	4	5	2	4	4	5	3	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr19:56443629G>A	ENST00000588751.1	-	1	73	c.49C>T	c.(49-51)Ctt>Ttt	p.L17F	NLRP13_ENST00000342929.3_Missense_Mutation_p.L17F			Q86W25	NAL13_HUMAN	NLR family, pyrin domain containing 13	17	DAPIN.						ATP binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(58)|ovary(4)|pancreas(2)|prostate(2)|skin(13)|stomach(2)|urinary_tract(1)	109		Colorectal(82;3.48e-05)|Ovarian(87;0.0481)|Renal(1328;0.218)		GBM - Glioblastoma multiforme(193;0.0642)		TAAGGCAGAAGCCCTTGGTTG	0.527													A	56443629	G	A	56443629	3	1	429	1	0	0	0	0	1	0	0	0	10551	971	34	2	3124	2	NLRP13	19	56443629	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	1336888	56443629	2685354	120	42405											
CASS4	57091	broad.mit.edu	37	chr20	55027547	55027547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctccttggacctggatGtggccaaggagacagtgatg	9	9	14	9	0	1	2	0	1	1	1	2	5	1	4	3	4	1	1	3	4	1	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr20:55027547G>A	ENST00000371336.3	+	5	1516	c.1315G>A	c.(1315-1317)Gtg>Atg	p.V439M	CASS4_ENST00000360314.3_Missense_Mutation_p.V439M|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	439					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity	p.V439M(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						GGACCTGGATGTGGCCAAGGA	0.567													A	55027547	G	A	55027547	3	1	429	1	0	0	0	0	1	0	0	0	2709	1377	48	2	1333	2	CASS4	20	55027547	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		55027547	7997973	121	42406											
TIAM1	7074	broad.mit.edu	37	chr21	32493110	32493110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggtaaacctgtttcgaGccagccgccgcctcctcctc	7	9	8	17	3	0	0	0	0	0	0	4	1	2	0	7	1	3	2	7	1	3	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr21:32493110G>A	ENST00000286827.3	-	29	4823	c.4352C>T	c.(4351-4353)gCt>gTt	p.A1451V	TIAM1_ENST00000541036.1_Missense_Mutation_p.A1391V	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	1451					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity	p.A1451G(2)		autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						CCTGTTTCGAGCCAGCCGCCG	0.547													A	32493110	G	A	32493110	3	1	429	1	0	0	0	0	1	0	0	0	15990	971	34	2	427	2	TIAM1	21	32493110	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08		32493110	15636785	122	42407											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971301	45971301	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtccacctgccaggagttgGtgcaggcgctggagcagatg	7	7	16	11	2	0	1	0	0	0	1	1	3	1	3	3	4	3	4	3	4	0	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr21:45971301G>C	ENST00000391621.1	-	1	87	c.41C>G	c.(40-42)aCc>aGc	p.T14S	KRTAP10-2_ENST00000498210.1_5'UTR|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	14						keratin filament				large_intestine(1)|lung(4)|skin(1)	6						CCAGGAGTTGGTGCAGGCGCT	0.667													C	45971301	G	C	45971301	3	2	429	1	0	0	0	0	1	0	0	0	8567	1261	44	4	730	4	KRTAP10-2	21	45971301	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	13478191	45971301	2158594	123	42408											
BCR	613	broad.mit.edu	37	chr22	23613769	23613769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggatccaacgaccaagaaCtctctggaaagtgagttctg	14	8	10	9	1	2	2	0	1	2	1	4	5	3	4	2	2	2	1	2	2	5	1			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:23613769C>G	ENST00000305877.8	+	6	2662	c.1911C>G	c.(1909-1911)aaC>aaG	p.N637K	BCR_ENST00000359540.3_Missense_Mutation_p.N637K	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	637	DH.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CGACCAAGAACTCTCTGGAAA	0.532			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								G	23613769	C	G	23613769	3	3	429	1	0	0	0	0	1	0	0	0	1393	564	20	4	1933	4	BCR	22	23613769	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		23613769	27690797	124	42409											
UQCR10	29796	broad.mit.edu	37	chr22	30163518	30163518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaaggcgcggacgctatctAcgaccacatcaacgaggggg	11	5	13	12	5	3	0	2	0	1	0	3	3	3	1	1	4	2	1	1	4	4	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:30163518A>G	ENST00000330029.6	+	1	161	c.131A>G	c.(130-132)tAc>tGc	p.Y44C	UQCR10_ENST00000401406.3_Missense_Mutation_p.Y44C	NM_001003684.1|NM_013387.3	NP_001003684.1|NP_037519.2	Q9UDW1	QCR9_HUMAN	ubiquinol-cytochrome c reductase, complex III subunit X	44					mitochondrial electron transport, ubiquinol to cytochrome c	mitochondrial inner membrane|respiratory chain	ubiquinol-cytochrome-c reductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(1)	5						GACGCTATCTACGACCACATC	0.607													G	30163518	A	G	30163518	3	3	429	1	0	0	0	0	1	0	0	0	17118	391	14	3	133	3	UQCR10	22	30163518	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	6549749	30163518	21141048	125	42410											
MTMR3	8897	broad.mit.edu	37	chr22	30421720	30421720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatgcaagtcttgctataGcagcctacatcccacaagct	12	10	7	12	0	1	0	0	0	1	0	2	0	2	0	2	0	6	5	2	0	6	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:30421720G>C	ENST00000333027.3	+	20	3771	c.3443G>C	c.(3442-3444)aGc>aCc	p.S1148T	MTMR3_ENST00000406629.1_Missense_Mutation_p.S1148T|CTA-85E5.10_ENST00000453743.2_RNA|MTMR3_ENST00000323630.5_Missense_Mutation_p.S1040T|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000351488.3_Missense_Mutation_p.S1139T|MTMR3_ENST00000401950.2_Missense_Mutation_p.S1176T	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	1176					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity			breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			TCTTGCTATAGCAGCCTACAT	0.512													C	30421720	G	C	30421720	3	2	429	1	0	0	0	0	1	0	0	0	10021	971	34	4	3628	4	MTMR3	22	30421720	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	258202	30421720	20882846	126	42411											
SREBF2	6721	broad.mit.edu	37	chr22	42280888	42280888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttccgatgtacacatggCgttgtgtgccgtgaacctgg	6	12	13	10	3	0	1	0	1	0	0	1	2	1	1	3	2	3	3	3	2	2	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chr22:42280888C>T	ENST00000361204.4	+	11	2247	c.2081C>T	c.(2080-2082)gCg>gTg	p.A694V		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	694					cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GTACACATGGCGTTGTGTGCC	0.547													T	42280888	C	T	42280888	3	4	429	1	0	0	0	0	1	0	0	0	15238	768	27	1	2123	1	SREBF2	22	42280888	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	11859168	42280888	9023678	127	42412											
VCX2	51480	broad.mit.edu	37	chrX	8138193	8138193	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgactcagggggtcgtgCtgggtcccctcgctcactgg	3	10	14	14	2	2	1	2	1	0	0	6	1	4	1	3	4	1	2	3	4	0	0			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:8138193C>G	ENST00000317103.4	-	3	606	c.300G>C	c.(298-300)caG>caC	p.Q100H		NM_016378.2	NP_057462.2	Q9H322	VCX2_HUMAN	variable charge, X-linked 2	100										endometrium(1)	1		Colorectal(8;0.0136)|Medulloblastoma(8;0.184)				GGGGGTCGTGCTGGGTCCCCT	0.677													G	8138193	C	G	8138193	3	3	429	1	0	0	0	0	1	0	0	0	17245	796	28	4	123	4	VCX2	23	8138193	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08		8138193	147132367	128	42413											
CXorf23	256643	broad.mit.edu	37	chrX	19953961	19953961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcttgtgtttcggtggtttCcctcaacctcaaatggtttg	5	17	9	10	1	3	0	2	0	1	0	5	0	4	0	2	3	1	3	2	3	2	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:19953961C>T	ENST00000379687.3	-	9	1862	c.1829G>A	c.(1828-1830)gGa>gAa	p.G610E	CXorf23_ENST00000356980.3_Intron|CXorf23_ENST00000379682.4_Missense_Mutation_p.G639E	NM_198279.3	NP_938020.2	A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	639						mitochondrion				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						TCGGTGGTTTCCCTCAACCTC	0.348													T	19953961	C	T	19953961	3	4	429	1	0	0	0	0	1	0	0	0	4136	855	30	2	231	2	CXorf23	23	19953961	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	11815768	19953961	135316599	129	42414											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998066	27998066	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgatttctcccagaagaaGacgtgcccacaatcactacc	13	8	7	13	1	2	4	1	1	1	3	3	5	2	4	3	0	2	0	3	0	4	2			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:27998066G>C	ENST00000441525.1	-	1	1500	c.1386C>G	c.(1384-1386)gtC>gtG	p.V462V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	462										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCAGAAGAAGACGTGCCCAC	0.468													C	27998066	G	C	27998066	2	2	429	1	0	0	0	0	0	0	0	1	4311	929	33	4		4	DCAF8L1	23	27998066	Silent	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	8044105	27998066	127272494	130	42415											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29938151	29938151	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgacttgggaaattacTcctgttatgttgaaaatgga	13	13	11	4	0	0	2	0	2	0	0	1	4	1	4	1	3	1	2	1	3	6	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:29938151T>C	ENST00000378993.1	+	8	1670	c.997T>C	c.(997-999)Tcc>Ccc	p.S333P	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.S333P	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	333	Ig-like C2-type 3.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						GGGAAATTACTCCTGTTATGT	0.423													C	29938151	T	C	29938151	3	2	429	1	0	0	0	0	1	0	0	0	7719	1551	54	3	1023	3	IL1RAPL1	23	29938151	Missense_Mutation	SNP	T	TCGA-DU-A7T6-01A-11D-A33T-08	1940085	29938151	125332409	131	42416											
DMD	1756	broad.mit.edu	37	chrX	31854865	31854865	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtggctggtttttccttGtacaaatgctgccctttaga	7	16	10	8	0	0	2	0	1	0	1	1	2	1	2	2	2	3	4	2	2	3	6			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:31854865G>C	ENST00000357033.4	-	49	7376	c.7170C>G	c.(7168-7170)taC>taG	p.Y2390*	DMD_ENST00000359836.1_5'UTR|DMD_ENST00000474231.1_5'UTR|DMD_ENST00000541735.1_5'UTR|DMD_ENST00000378707.3_5'UTR|DMD_ENST00000378677.2_Nonsense_Mutation_p.Y2386*|DMD_ENST00000343523.2_5'UTR	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2390					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTTTTCCTTGTACAAATGCT	0.428													C	31854865	G	C	31854865	4	2	429	1	0	0	0	0	0	1	0	0	4619	1372	48	4	4159	4	DMD	23	31854865	Nonsense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	1916714	31854865	123415695	132	42417											
MAGEE1	57692	broad.mit.edu	37	chrX	75651163	75651163	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccaatagagctgatgttgGgcacaggcaaatctttgttc	10	11	12	8	0	1	2	0	1	1	1	2	2	1	2	1	3	1	5	1	3	3	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:75651163G>T	ENST00000361470.2	+	1	3118	c.2840G>T	c.(2839-2841)gGg>gTg	p.G947V		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	947	Interaction with DTNA (By similarity).					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GCTGATGTTGGGCACAGGCAA	0.522													T	75651163	G	T	75651163	3	4	429	1	0	0	0	0	1	0	0	0	9260	1232	43	4	2842	4	MAGEE1	23	75651163	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	43796298	75651163	79619397	133	42418											
GPRASP1	9737	broad.mit.edu	37	chrX	101909040	101909040	+	Nonsense_Mutation	SNP	G	G	T																															ctggagcaagcaccaaagttGagacaagtgcagtgggtggg																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:101909040G>T	ENST00000537097.1	+	6	1012	c.199G>T	c.(199-201)Gag>Tag	p.E67*	GPRASP1_ENST00000361600.5_Nonsense_Mutation_p.E67*|GPRASP1_ENST00000415986.1_Nonsense_Mutation_p.E67*|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Nonsense_Mutation_p.E67*	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	67						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						CACCAAAGTTGAGACAAGTGC	0.542													T	101909040	G	T	101909040	4	4	429	1	0	0	0	0	0	1	0	0	6777	1291	45	4	201	4	GPRASP1	23	101909040	Nonsense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	26257877	101909040	53361520	134	42419	138	2									
GPRASP1	9737	broad.mit.edu	37	chrX	101909041	101909041	+	Missense_Mutation	SNP	A	A	G																															tggagcaagcaccaaagttgAgacaagtgcagtgggtgggg																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:101909041A>G	ENST00000537097.1	+	6	1013	c.200A>G	c.(199-201)gAg>gGg	p.E67G	GPRASP1_ENST00000361600.5_Missense_Mutation_p.E67G|GPRASP1_ENST00000415986.1_Missense_Mutation_p.E67G|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.E67G	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	67						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						ACCAAAGTTGAGACAAGTGCA	0.542													G	101909041	A	G	101909041	3	3	429	1	0	0	0	0	1	0	0	0	6777	304	11	3	202	3	GPRASP1	23	101909041	Missense_Mutation	SNP	A	TCGA-DU-A7T6-01A-11D-A33T-08	1	101909041	53361519	135	42420	138	2									
DCX	1641	broad.mit.edu	37	chrX	110644391	110644391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggtaaccagcttggggcGcacaaagtccttgttctccc	8	10	11	12	1	1	0	0	0	1	0	3	1	2	0	3	3	2	4	3	3	2	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:110644391G>A	ENST00000338081.3	-	3	946	c.775C>T	c.(775-777)Cgc>Tgc	p.R259C	DCX_ENST00000371993.2_Missense_Mutation_p.R178C|DCX_ENST00000356915.2_Missense_Mutation_p.R178C|DCX_ENST00000488120.1_Missense_Mutation_p.R178C|DCX_ENST00000356220.3_Missense_Mutation_p.R178C|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	259			R -> C (in SBHX).|R -> L (in SBHX).		axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	p.R178C(1)|p.R259C(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						AGCTTGGGGCGCACAAAGTCC	0.537													A	110644391	G	A	110644391	3	1	429	1	0	0	0	0	1	0	0	0	4352	1087	38	1	585	1	DCX	23	110644391	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	8735350	110644391	44626169	136	42421											
GRIA3	2892	broad.mit.edu	37	chrX	122551721	122551721	+	Frame_Shift_Del	DEL	T	T	-																															tcatccatctcaactccagaTttttttcatttaacattcca																										TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:122551721delT	ENST00000541091.1	+	11	1948	c.1921delT	c.(1921-1923)tttfs	p.F642fs	GRIA3_ENST00000542149.1_Intron|GRIA3_ENST00000371256.5_Intron|GRIA3_ENST00000264357.5_Intron|GRIA3_ENST00000371251.1_Intron			P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	0					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	CAACTCCAGATTTTTTTCATT	0.358													-	122551721	T	-	122551721	7	5	429	1	0	1	0	1	0	0	0	0	6824	1508	52	0		0	GRIA3	23	122551721	Frame_Shift_Del	DEL	T	TCGA-DU-A7T6-01A-11D-A33T-08	11907330	122551721	32718839	137	42422											
SMARCA1	6594	broad.mit.edu	37	chrX	128631957	128631957	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggatgattacaacactttcGaagctgcatcagaatgttta	13	13	8	7	1	1	2	1	1	0	1	2	4	1	3	0	1	4	3	0	1	5	4			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:128631957G>C	ENST00000371122.4	-	11	1498	c.1369C>G	c.(1369-1371)Cga>Gga	p.R457G	SMARCA1_ENST00000371121.3_Missense_Mutation_p.R457G|SMARCA1_ENST00000371123.1_Missense_Mutation_p.R457G	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	457					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						CAACACTTTCGAAGCTGCATC	0.373													C	128631957	G	C	128631957	3	2	429	1	0	0	0	0	1	0	0	0	14862	1066	37	4	1851	4	SMARCA1	23	128631957	Missense_Mutation	SNP	G	TCGA-DU-A7T6-01A-11D-A33T-08	6080236	128631957	26638603	138	42423											
AIFM1	9131	broad.mit.edu	37	chrX	129290463	129290463	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctcctactgttgataagCccacaataaggactaacaca	15	8	6	12	0	0	1	0	1	0	0	1	2	1	2	2	1	4	2	2	1	5	5			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:129290463C>G	ENST00000287295.3	-	2	451	c.221G>C	c.(220-222)gGc>gCc	p.G74A	AIFM1_ENST00000535724.1_Intron|AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000319908.3_Intron	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	74					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						TGTTGATAAGCCCACAATAAG	0.443													G	129290463	C	G	129290463	3	3	429	1	0	0	0	0	1	0	0	0	426	739	26	4	1827	4	AIFM1	23	129290463	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	658506	129290463	25980097	139	42424											
GPR112	139378	broad.mit.edu	37	chrX	135439900	135439900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaagaaatggctacaatttCctatgtaccatacaggtagg	15	10	8	8	0	0	1	0	0	0	1	1	1	1	1	2	3	3	3	2	3	8	6			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:135439900C>T	ENST00000394143.1	+	10	7256	c.6965C>T	c.(6964-6966)tCc>tTc	p.S2322F	GPR112_ENST00000412101.1_Missense_Mutation_p.S2117F|GPR112_ENST00000287534.4_Intron|GPR112_ENST00000370652.1_Missense_Mutation_p.S2322F|GPR112_ENST00000394141.1_Missense_Mutation_p.S2117F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2322					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GCTACAATTTCCTATGTACCA	0.363													T	135439900	C	T	135439900	3	4	429	1	0	0	0	0	1	0	0	0	6683	855	30	2	6991	2	GPR112	23	135439900	Missense_Mutation	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	6149437	135439900	19830660	140	42425											
ATP2B3	492	broad.mit.edu	37	chrX	152826216	152826216	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactacaccatcatcttcaaCacgttcgtcatgatgcagct	11	11	5	14	2	4	1	3	1	1	0	5	1	4	1	1	0	4	3	1	0	2	3			TCGA-DU-A7T6-01A-11D-A33T-08	TCGA-DU-A7T6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	675ce5ef-043a-4057-854c-dc78c82c3138	f00ed66c-116a-4665-b75d-7f5d608e7034	g.chrX:152826216C>T	ENST00000370186.1	+	17	3206	c.2880C>T	c.(2878-2880)aaC>aaT	p.N960N	ATP2B3_ENST00000359149.3_Silent_p.N974N|ATP2B3_ENST00000393842.1_Silent_p.N960N|ATP2B3_ENST00000263519.4_Silent_p.N974N|ATP2B3_ENST00000349466.2_Silent_p.N974N|ATP2B3_ENST00000370181.2_Silent_p.N960N|ATP2B3_ENST00000460549.1_3'UTR			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	974					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TCATCTTCAACACGTTCGTCA	0.557													T	152826216	C	T	152826216	2	4	429	1	0	0	0	0	0	0	0	1	1146	477	17	2		2	ATP2B3	23	152826216	Silent	SNP	C	TCGA-DU-A7T6-01A-11D-A33T-08	17386316	152826216	2444344	141	42426											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960315	33960315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accagagaattcacacggggGaaaagccctataaatgtgga	16	6	11	8	1	1	1	1	0	0	1	1	4	1	3	2	3	1	0	2	3	6	3			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr1:33960315G>C	ENST00000361328.3	+	8	2524	c.2371G>C	c.(2371-2373)Gaa>Caa	p.E791Q		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	791					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TCACACGGGGGAAAAGCCCTA	0.443													C	33960315	G	C	33960315	3	2	430	1	0	0	0	0	1	0	0	0	18330	1175	41	4	2397	4	ZSCAN20	1	33960315	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		33960315	215290306	1	42427											
TTC30B	150737	broad.mit.edu	37	chr2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccgaggcctgcagggcgGcaaaaaacttggagcatgca	12	4	14	11	2	0	0	0	0	0	0	0	2	0	1	2	4	5	4	2	4	3	1			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B					Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542													A	178416956	G	A	178416956	3	1	430	1	0	0	0	0	1	0	0	0	16801	1203	42	2	1465	2	TTC30B	2	178416956	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		178416956	64782417	2	42428											
CASP8	841	broad.mit.edu	37	chr2	202149727	202149727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atggcactgatggacaggagGcccccatctatgagctgaca	11	7	12	11	0	1	3	0	3	1	0	1	5	1	5	2	4	1	2	2	4	1	1			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:202149727G>A	ENST00000358485.4	+	8	1364	c.1168G>A	c.(1168-1170)Gcc>Acc	p.A390T	CASP8_ENST00000432109.2_Missense_Mutation_p.A331T|CASP8_ENST00000264274.9_Missense_Mutation_p.A247T|CASP8_ENST00000323492.7_Missense_Mutation_p.A316T|CASP8_ENST00000392266.3_3'UTR|CASP8_ENST00000392259.2_3'UTR|CASP8_ENST00000264275.5_Missense_Mutation_p.A348T	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	331					activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						TGGACAGGAGGCCCCCATCTA	0.483										HNSCC(4;0.00038)			A	202149727	G	A	202149727	3	1	430	1	0	0	0	0	1	0	0	0	2703	1203	42	2	1298	2	CASP8	2	202149727	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	23732771	202149727	41049646	3	42429											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	430	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08	6963385	209113112	34086261	4	42430											
VIL1	7429	broad.mit.edu	37	chr2	219305467	219305467	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcacaagccccaaagtggAcgtgttcaatgctaacagca	13	7	10	11	1	2	0	2	0	0	0	2	1	2	1	2	2	4	3	2	2	4	2			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr2:219305467A>G	ENST00000248444.5	+	19	2340	c.2252A>G	c.(2251-2253)gAc>gGc	p.D751G	VIL1_ENST00000392114.2_Missense_Mutation_p.D440G	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	751	Headpiece.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCCAAAGTGGACGTGTTCAAT	0.542													G	219305467	A	G	219305467	3	3	430	1	0	0	0	0	1	0	0	0	17266	275	10	3	2322	3	VIL1	2	219305467	Missense_Mutation	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08	10192355	219305467	23893906	5	42431											
APPL1	26060	broad.mit.edu	37	chr3	57294042	57294042	+	Frame_Shift_Del	DEL	T	T	-																															ttattagtcacttgtgactgTttaaagtaagtaaaaccctc																										TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:57294042delT	ENST00000288266.3	+	17	1800	c.1653delT	c.(1651-1653)tgtfs	p.C551fs		NM_012096.2	NP_036228.1	Q9UKG1	DP13A_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1	551	PID.				apoptosis|cell cycle|cell proliferation|insulin receptor signaling pathway|regulation of apoptosis|regulation of establishment of protein localization in plasma membrane|regulation of glucose import	cytosol|early endosome membrane|microsome|nucleus|vesicle membrane	protein kinase B binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(10)|liver(2)|lung(4)|prostate(2)	27				KIRC - Kidney renal clear cell carcinoma(284;0.0124)|Kidney(284;0.0144)		CTTGTGACTGTTTAAAGTAAG	0.313													-	57294042	T	-	57294042	7	5	430	1	0	1	0	1	0	0	0	0	820	1731	60	0	1719	0	APPL1	3	57294042	Frame_Shift_Del	DEL	T	TCGA-DU-A7T8-01A-21D-A34J-08		57294042	140728388	6	42432											
UPK1B	7348	broad.mit.edu	37	chr3	118913081	118913081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaggacaattgctgtggcGtaaatggtccatcagactgg	11	9	13	8	1	1	1	1	0	0	1	2	3	2	2	1	4	1	2	1	4	3	2			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr3:118913081G>A	ENST00000264234.3	+	6	633	c.484G>A	c.(484-486)Gta>Ata	p.V162I	UPK1B_ENST00000460625.1_Missense_Mutation_p.V154I|UPK1B_ENST00000497685.1_Missense_Mutation_p.V82I	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	162					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		TTGCTGTGGCGTAAATGGTCC	0.428													A	118913081	G	A	118913081	3	1	430	1	0	0	0	0	1	0	0	0	17110	1145	40	1	502	1	UPK1B	3	118913081	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	61619039	118913081	79109349	7	42433											
MDN1	23195	broad.mit.edu	37	chr6	90397870	90397870	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagtgggaaactacgaAttctgtccattacaaccagg	14	9	10	8	1	1	0	0	0	1	0	2	3	2	2	2	3	4	0	2	3	6	3			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr6:90397870A>C	ENST00000369393.3	-	67	11397	c.11282T>G	c.(11281-11283)aTt>aGt	p.I3761S	MDN1_ENST00000428876.1_Missense_Mutation_p.I3761S			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3761					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GAAACTACGAATTCTGTCCAT	0.448													C	90397870	A	C	90397870	3	2	430	1	0	0	0	0	1	0	0	0	9490	101	4	5	5652	5	MDN1	6	90397870	Missense_Mutation	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08		90397870	80717197	8	42434											
CYP11B2	1585	broad.mit.edu	37	chr8	143999219	143999219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgcagggacagccagggcGctgccacgcacacctctgcc	7	6	12	16	2	1	0	0	0	1	0	1	1	1	1	4	2	4	3	4	2	0	1			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr8:143999219G>A	ENST00000323110.2	-	1	40	c.38C>T	c.(37-39)gCg>gTg	p.A13V		NM_000498.3	NP_000489.3	P19099	C11B2_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 2	13					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|potassium ion homeostasis|regulation of blood volume by renal aldosterone|sodium ion homeostasis|xenobiotic metabolic process		corticosterone 18-monooxygenase activity|electron carrier activity|steroid 11-beta-monooxygenase activity			cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(22)|ovary(3)|upper_aerodigestive_tract(3)	39	all_cancers(97;5.56e-11)|all_epithelial(106;2.49e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Candesartan(DB00796)|Metyrapone(DB01011)	CAGCCAGGGCGCTGCCACGCA	0.632									Familial Hyperaldosteronism type I				A	143999219	G	A	143999219	3	1	430	1	0	0	0	0	1	0	0	0	4179	1087	38	1	1509	1	CYP11B2	8	143999219	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		143999219	2364803	9	42435											
KIAA1217	56243	broad.mit.edu	37	chr10	24813330	24813330	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatggaaaaggccacagcCgcagaagtcctgaagagtca	14	5	12	10	1	1	3	1	1	0	2	2	4	2	4	3	2	1	2	3	2	5	1			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr10:24813330C>T	ENST00000376451.2	+	8	1844	c.1584C>T	c.(1582-1584)gcC>gcT	p.A528A	KIAA1217_ENST00000396446.1_Silent_p.A528A|KIAA1217_ENST00000376452.3_Silent_p.A810A|KIAA1217_ENST00000376454.3_Silent_p.A845A|KIAA1217_ENST00000307544.6_Silent_p.A528A|KIAA1217_ENST00000396445.1_Silent_p.A528A|KIAA1217_ENST00000376462.1_Silent_p.A765A|KIAA1217_ENST00000458595.1_Silent_p.A810A|KIAA1217_ENST00000430453.2_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	845					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						AGGCCACAGCCGCAGAAGTCC	0.607													T	24813330	C	T	24813330	2	4	430	1	0	0	0	0	0	0	0	1	8274	639	23	1		1	KIAA1217	10	24813330	Silent	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08		24813330	110721417	10	42436											
TUT1	64852	broad.mit.edu	37	chr11	62342669	62342669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggggtcacagtgagcattCggtcagccggggagacagac	9	5	17	10	3	2	3	2	1	0	2	3	4	2	3	1	5	2	1	1	5	0	1			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:62342669C>T	ENST00000476907.1	-	9	3213	c.2522G>A	c.(2521-2523)cGa>cAa	p.R841Q	MIR3654_ENST00000496634.2_Intron|TUT1_ENST00000308436.7_Missense_Mutation_p.R879Q			Q9H6E5	STPAP_HUMAN	terminal uridylyl transferase 1, U6 snRNA-specific	841					mRNA cleavage|mRNA polyadenylation|snRNA processing	nuclear speck|nucleolus	ATP binding|enzyme binding|mRNA 3'-UTR binding|polynucleotide adenylyltransferase activity|RNA uridylyltransferase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						AGTGAGCATTCGGTCAGCCGG	0.567													T	62342669	C	T	62342669	3	4	430	1	0	0	0	0	1	0	0	0	16882	884	31	1	106	1	TUT1	11	62342669	Missense_Mutation	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08		62342669	72663847	11	42437											
GRIA4	2893	broad.mit.edu	37	chr11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggatctgagactcctccaAaggtatttgtttatttttat	10	17	7	7	0	1	1	0	1	1	1	3	3	3	2	2	2	0	2	2	2	4	7			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr11:105769151A>G	ENST00000393127.2	+	7	1329	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACTCCTCCAAAGGTATTTGT	0.313													G	105769151	A	G	105769151	3	3	430	1	0	0	0	0	1	0	0	0	6825	15	1	3	905	3	GRIA4	11	105769151	Missense_Mutation	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08	43426482	105769151	29237365	12	42438											
ACSM4	341392	broad.mit.edu	37	chr12	7475909	7475909	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgctgccctatgatgtccAggtaggttgagaaaatatct	12	12	10	7	0	1	2	0	2	1	1	2	3	2	2	2	2	2	3	2	2	6	4			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:7475909A>G	ENST00000399422.4	+	8	1253	c.1205A>G	c.(1204-1206)cAg>cGg	p.Q402R		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	402					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						TATGATGTCCAGGTAGGTTGA	0.398													G	7475909	A	G	7475909	5	3	430	1	0	0	0	0	0	0	1	0	186	202	7	3	1235	3	ACSM4	12	7475909	Splice_Site	SNP	A	TCGA-DU-A7T8-01A-21D-A34J-08		7475909	126375986	13	42439											
IPO8	10526	broad.mit.edu	37	chr12	30843474	30843474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catggtcagagactataatcCgaagtaaactgggggcaaaa	16	7	11	7	1	1	1	1	0	0	1	2	3	2	1	1	3	1	2	1	3	7	3			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr12:30843474C>T	ENST00000256079.4	-	2	460	c.122G>A	c.(121-123)cGg>cAg	p.R41Q		NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	41	Importin N-terminal.				intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					GACTATAATCCGAAGTAAACT	0.343													T	30843474	C	T	30843474	3	4	430	1	0	0	0	0	1	0	0	0	7856	652	23	1	3087	1	IPO8	12	30843474	Missense_Mutation	SNP	C	TCGA-DU-A7T8-01A-21D-A34J-08	23367565	30843474	103008421	14	42440											
CLMN	79789	broad.mit.edu	37	chr14	95669569	95669569	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcttgaaatccaggcctTcttcgctgtgactcccaagg	8	10	11	12	1	1	2	0	2	1	0	4	2	3	2	3	3	0	2	3	3	2	3	rs145305362		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:95669569T>C	ENST00000298912.4	-	9	2230	c.2117A>G	c.(2116-2118)gAa>gGa	p.E706G		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	706						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		ATCCAGGCCTTCTTCGCTGTG	0.567													C	95669569	T	C	95669569	3	2	430	1	0	0	0	0	1	0	0	0	3573	1783	62	3	911	3	CLMN	14	95669569	Missense_Mutation	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		95669569	11679971	15	42441											
GPR132	29933	broad.mit.edu	37	chr14	105518014	105518014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggtcctccggcggcGgcggccccgactctccagcg	3	5	16	17	7	1	0	0	0	1	0	4	2	3	0	5	6	1	0	5	6	0	0			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr14:105518014G>A	ENST00000329797.3	-	4	1371	c.460C>T	c.(460-462)Cgc>Tgc	p.R154C	GPR132_ENST00000539291.2_Missense_Mutation_p.R154C|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.R145C	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	154	Poly-Arg.				response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		CTCCGGCGGCGGCGGCCCCGA	0.612													A	105518014	G	A	105518014	3	1	430	1	0	0	0	0	1	0	0	0	6696	1116	39	1	686	1	GPR132	14	105518014	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	9848445	105518014	1831526	16	42442											
FHOD1	29109	broad.mit.edu	37	chr16	67267991	67267991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaggtccccaatagagaGcctgggtgcacgggtaggga	9	6	16	10	1	0	1	0	0	0	1	2	3	2	2	4	4	2	2	4	4	3	2			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr16:67267991G>A	ENST00000258201.4	-	13	1862	c.1615C>T	c.(1615-1617)Ctc>Ttc	p.L539F		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	539	FH1.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		CCAATAGAGAGCCTGGGTGCA	0.597													A	67267991	G	A	67267991	3	1	430	1	0	0	0	0	1	0	0	0	5931	971	34	2	1919	2	FHOD1	16	67267991	Missense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08		67267991	23086762	17	42443											
TP53	7157	broad.mit.edu	37	chr17	7579329	7579329	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtgcaagtcacagactTggctgtcccagaatgcaaga	12	7	11	11	1	1	3	1	0	0	3	2	4	2	3	2	1	2	3	2	1	3	1	rs121912658		TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr17:7579329T>C	ENST00000420246.2	-	4	490	c.358A>G	c.(358-360)Aag>Gag	p.K120E	TP53_ENST00000445888.2_Missense_Mutation_p.K120E|TP53_ENST00000455263.2_Missense_Mutation_p.K120E|TP53_ENST00000269305.4_Missense_Mutation_p.K120E|TP53_ENST00000359597.4_Missense_Mutation_p.K120E|TP53_ENST00000413465.2_Missense_Mutation_p.K120E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120E(3)|p.G59fs*23(3)|p.K120*(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.K120Q(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.K120fs*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)		GTCACAGACTTGGCTGTCCCA	0.562		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)			C	7579329	T	C	7579329	3	2	430	1	0	0	0	0	1	0	0	0	16482	1821	63	3	944	3	TP53	17	7579329	Missense_Mutation	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		7579329	73615881	18	42444											
MAST1	22983	broad.mit.edu	37	chr19	12976207	12976207	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagccagtggactggtgggcTatggggatcatcctctacga	9	9	14	9	1	2	0	1	0	1	0	3	3	3	2	2	5	2	1	2	5	3	2			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chr19:12976207T>C	ENST00000251472.4	+	15	1755	c.1716T>C	c.(1714-1716)gcT>gcC	p.A572A		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	572	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						ACTGGTGGGCTATGGGGATCA	0.607													C	12976207	T	C	12976207	2	2	430	1	0	0	0	0	0	0	0	1	9399	1509	53	3		3	MAST1	19	12976207	Silent	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		12976207	46152776	19	42445											
MXRA5	25878	broad.mit.edu	37	chrX	3228566	3228566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagagcagttgaggctgaTggtgtggcccgccatggccg	6	7	18	10	2	0	3	0	2	0	1	0	3	0	3	3	5	1	4	3	5	0	1			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:3228566T>C	ENST00000217939.6	-	7	7832	c.7678A>G	c.(7678-7680)Atc>Gtc	p.I2560V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2560	Ig-like C2-type 10.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTGAGGCTGATGGTGTGGCCC	0.632													C	3228566	T	C	3228566	3	2	430	1	0	0	0	0	1	0	0	0	10079	1464	51	3	812	3	MXRA5	23	3228566	Missense_Mutation	SNP	T	TCGA-DU-A7T8-01A-21D-A34J-08		3228566	152041994	20	42446											
ATRX	546	broad.mit.edu	37	chrX	76939375	76939375	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtttagcttctgactttGaaatatccttcttttccaaa	12	17	4	8	0	2	2	0	2	2	0	4	2	4	2	2	0	1	2	2	0	5	8			TCGA-DU-A7T8-01A-21D-A34J-08	TCGA-DU-A7T8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	853c63c4-60c7-4f4c-89b5-0594ba29f94d	ef03bab0-00fa-4e7a-a3f5-964bee3f8224	g.chrX:76939375G>T	ENST00000373344.5	-	9	1587	c.1373C>A	c.(1372-1374)tCa>tAa	p.S458*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S420*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	458					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)	TTCTGACTTTGAAATATCCTT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939375	G	T	76939375	4	4	430	1	0	0	0	0	0	1	0	0	1213	1294	45	4	6213	4	ATRX	23	76939375	Nonsense_Mutation	SNP	G	TCGA-DU-A7T8-01A-21D-A34J-08	73710809	76939375	78331185	21	42447											
C1orf173	127254	broad.mit.edu	37	chr1	75072290	75072290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgttgttgattaccatatTttaaagtattttcctggtcg	8	20	8	5	1	0	1	0	1	0	0	2	1	1	1	2	1	1	3	2	1	5	9			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:75072290T>C	ENST00000326665.5	-	10	1702	c.1484A>G	c.(1483-1485)aAa>aGa	p.K495R	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.K298R	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	495	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						ATTACCATATTTTAAAGTATT	0.353													C	75072290	T	C	75072290	3	2	431	1	0	0	0	0	1	0	0	0	2034	1841	64	3	3128	3	C1orf173	1	75072290	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08		75072290	174178331	1	42448											
KCNJ9	3765	broad.mit.edu	37	chr1	160054019	160054019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgttgttcttcgtcctgGcctacgcgctcacctggctc	2	13	10	16	3	2	0	1	0	1	0	5	0	3	0	4	2	1	4	4	2	1	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:160054019G>C	ENST00000368088.3	+	2	441	c.199G>C	c.(199-201)Gcc>Ccc	p.A67P		NM_004983.2	NP_004974.2	Q92806	IRK9_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 9	67					synaptic transmission	integral to membrane|plasma membrane	G-protein activated inward rectifier potassium channel activity|protein binding			biliary_tract(1)|endometrium(3)|large_intestine(3)|liver(1)|lung(5)|ovary(1)|skin(2)	16	all_cancers(52;5.86e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CTTCGTCCTGGCCTACGCGCT	0.667													C	160054019	G	C	160054019	3	2	431	1	0	0	0	0	1	0	0	0	8115	1203	42	4	201	4	KCNJ9	1	160054019	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	84981729	160054019	89196602	2	42449											
RGS4	5999	broad.mit.edu	37	chr1	163044190	163044192	+	In_Frame_Del	DEL	AGA	AGA	-																															aacctgctttgatgaggcccAgaagaagattttcaacctga																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:163044190_163044192delAGA	ENST00000421743.2	+	6	909_911	c.749_751delAGA	c.(748-753)cagaag>cag	p.K252del	RGS4_ENST00000367906.3_In_Frame_Del_p.K137del|RGS4_ENST00000531057.1_Intron|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_In_Frame_Del_p.K137del|RGS4_ENST00000367909.6_In_Frame_Del_p.K155del|RGS4_ENST00000367908.4_3'UTR	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	155					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						GATGAGGCCCAGAAGAAGATTTT	0.512													-	163044192	AGA	-	163044190	7	5	431	1	0	1	0	1	0	0	0	0	13396	188	7	0	771	0	RGS4	1	163044190	In_Frame_Del	DEL	AGA	TCGA-DU-A7TA-01A-11D-A33T-08	2990171	163044190	86206431	3	42450											
PTGS2	5743	broad.mit.edu	37	chr1	186645672	186645672	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctgtttaagcacatcGcatactctgttgtgttcccg	6	15	8	12	2	1	0	0	0	1	0	4	0	3	0	2	0	3	6	2	0	2	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:186645672G>A	ENST00000367468.5	-	7	1033	c.897C>T	c.(895-897)tgC>tgT	p.C299C	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	299					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TAAGCACATCGCATACTCTGT	0.463													A	186645672	G	A	186645672	2	1	431	1	0	0	0	0	0	0	0	1	12842	1079	38	1		1	PTGS2	1	186645672	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	23601482	186645672	62604949	4	42451											
PTPRC	5788	broad.mit.edu	37	chr1	198703524	198703524	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaagccacagttattgtCatggtcactcgatgtgaaga	13	10	10	8	1	2	3	2	1	0	2	3	4	2	3	1	1	1	1	1	1	3	2			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:198703524C>A	ENST00000367376.2	+	22	2412	c.2241C>A	c.(2239-2241)gtC>gtA	p.V747V	PTPRC_ENST00000594404.1_Silent_p.V586V|PTPRC_ENST00000352140.3_Silent_p.V699V|PTPRC_ENST00000442510.2_Silent_p.V749V|PTPRC_ENST00000348564.6_Silent_p.V588V	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	747	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CAGTTATTGTCATGGTCACTC	0.408													A	198703524	C	A	198703524	2	1	431	1	0	0	0	0	0	0	0	1	12885	813	29	4		4	PTPRC	1	198703524	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	12057852	198703524	50547097	5	42452											
RBBP5	5929	broad.mit.edu	37	chr1	205068185	205068185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attccctttcttcgtattctAcattttcatccaattctttg	7	21	2	11	1	4	0	1	0	3	0	7	0	6	0	2	0	1	1	2	0	3	10			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr1:205068185A>G	ENST00000264515.6	-	10	1169	c.1028T>C	c.(1027-1029)gTa>gCa	p.V343A	RBBP5_ENST00000367164.1_Missense_Mutation_p.V343A	NM_001193273.1|NM_005057.3	NP_001180202.1|NP_005048.2	Q15291	RBBP5_HUMAN	retinoblastoma binding protein 5	343					histone H3-K4 methylation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription, DNA-dependent	MLL1 complex|Set1C/COMPASS complex	methylated histone residue binding|transcription regulatory region DNA binding			cervix(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	27	Breast(84;0.0505)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			TTCGTATTCTACATTTTCATC	0.353													G	205068185	A	G	205068185	3	3	431	1	0	0	0	0	1	0	0	0	13190	391	14	3	608	3	RBBP5	1	205068185	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	6364661	205068185	44182436	6	42453											
LRP1B	53353	broad.mit.edu	37	chr2	141291650	141291650	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctccatcacataacttgcCatgaggaatgcagcggcgat	11	10	9	11	2	2	1	1	1	1	0	3	3	2	2	2	2	4	1	2	2	2	3			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:141291650C>A	ENST00000389484.3	-	47	8673	c.7702G>T	c.(7702-7704)Ggc>Tgc	p.G2568C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	2568	LDL-receptor class A 12.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CATAACTTGCCATGAGGAATG	0.383										TSP Lung(27;0.18)			A	141291650	C	A	141291650	3	1	431	1	0	0	0	0	1	0	0	0	9025	594	21	4	6277	4	LRP1B	2	141291650	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		141291650	101907723	7	42454											
ERMN	57471	broad.mit.edu	37	chr2	158178296	158178296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaggaatcttctcccaCtgatgccctgtagcaaaatc	11	10	7	13	0	3	2	1	1	2	1	5	3	3	3	2	1	2	2	2	1	4	2			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:158178296C>G	ENST00000410096.1	-	3	633	c.342G>C	c.(340-342)caG>caC	p.Q114H	ERMN_ENST00000535935.1_Missense_Mutation_p.Q8H|ERMN_ENST00000397283.2_Missense_Mutation_p.Q127H|ERMN_ENST00000409925.1_3'UTR|ERMN_ENST00000420719.2_Missense_Mutation_p.Q94H|ERMN_ENST00000409216.1_3'UTR	NM_020711.1	NP_065762.1	Q8TAM6	ERMIN_HUMAN	ermin, ERM-like protein	114						cytoplasm|cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12						TCTTCTCCCACTGATGCCCTG	0.413													G	158178296	C	G	158178296	3	3	431	1	0	0	0	0	1	0	0	0	5276	564	20	4	516	4	ERMN	2	158178296	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	16886646	158178296	85021077	8	42455											
ITGA4	3676	broad.mit.edu	37	chr2	182358103	182358103	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgcaaggtgctatttataTttacaatggccgtgcagatg	10	14	10	7	1	0	1	0	0	0	1	0	1	0	1	1	2	4	3	1	2	6	7			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr2:182358103T>C	ENST00000397033.2	+	11	1635	c.1205T>C	c.(1204-1206)aTt>aCt	p.I402T		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	402					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity	p.I402S(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	GCTATTTATATTTACAATGGC	0.348													C	182358103	T	C	182358103	3	2	431	1	0	0	0	0	1	0	0	0	7936	1493	52	3	1247	3	ITGA4	2	182358103	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	24179807	182358103	60841270	9	42456											
ATP2B2	491	broad.mit.edu	37	chr3	10379897	10379897	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggcctcggaaccacaggAtctggccccgccgcagctcc	7	5	11	18	3	2	0	1	0	1	0	4	2	3	2	6	4	2	2	6	4	1	0			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:10379897A>C	ENST00000397077.1	-	21	3823	c.3248T>G	c.(3247-3249)aTc>aGc	p.I1083S	ATP2B2_ENST00000383800.4_Missense_Mutation_p.I1083S|ATP2B2_ENST00000360273.2_Missense_Mutation_p.I1128S|ATP2B2_ENST00000343816.4_Missense_Mutation_p.I1114S|ATP2B2_ENST00000352432.4_Missense_Mutation_p.I1128S			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	1128					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						GAACCACAGGATCTGGCCCCG	0.682													C	10379897	A	C	10379897	3	2	431	1	0	0	0	0	1	0	0	0	1145	333	12	5	356	5	ATP2B2	3	10379897	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08		10379897	187642533	10	42457											
CHCHD4	131474	broad.mit.edu	37	chr3	14154514	14154514	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggggatagaggtctgggTatttctgcatgcattcctgc	6	14	13	8	0	2	1	0	0	2	1	3	2	3	2	1	4	3	3	1	4	2	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:14154514T>G	ENST00000295767.5	-	4	665	c.341A>C	c.(340-342)tAc>tCc	p.Y114S	CHCHD4_ENST00000396914.3_Missense_Mutation_p.Y101S	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	101	Asp/Glu-rich (acidic).				protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GAGGTCTGGGTATTTCTGCAT	0.507													G	14154514	T	G	14154514	3	3	431	1	0	0	0	0	1	0	0	0	3348	1638	57	5	130	5	CHCHD4	3	14154514	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	3774617	14154514	183867916	11	42458											
BTD	686	broad.mit.edu	37	chr3	15677045	15677045	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcgtggctgaccatcaCgaggctgaatattatgtggc	10	9	14	8	2	1	3	1	2	0	1	1	5	1	3	1	3	1	2	1	3	3	2			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:15677045C>G	ENST00000383778.4	+	2	457	c.99C>G	c.(97-99)caC>caG	p.H33Q	BTD_ENST00000449107.1_Missense_Mutation_p.H55Q|BTD_ENST00000482824.1_3'UTR|BTD_ENST00000303498.5_Missense_Mutation_p.H53Q|BTD_ENST00000437172.1_Missense_Mutation_p.H55Q	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	53					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						CTGACCATCACGAGGCTGAAT	0.562													G	15677045	C	G	15677045	3	3	431	1	0	0	0	0	1	0	0	0	1560	535	19	4	165	4	BTD	3	15677045	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	1522531	15677045	182345385	12	42459											
TOP2B	7155	broad.mit.edu	37	chr3	25646328	25646328	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgaaaaaacagaagcaGaatcttcttcattactgtca	16	11	7	7	0	4	3	2	1	2	2	4	3	4	3	0	1	3	1	0	1	6	3			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646328G>C	ENST00000435706.2	-	33	4598	c.4397C>G	c.(4396-4398)tCt>tGt	p.S1466C	TOP2B_ENST00000264331.4_Missense_Mutation_p.S1471C|TOP2B_ENST00000542520.1_Missense_Mutation_p.S323C|TOP2B_ENST00000540199.1_Missense_Mutation_p.S323C			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1471					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AACAGAAGCAGAATCTTCTTC	0.323													C	25646328	G	C	25646328	3	2	431	1	0	0	0	0	1	0	0	0	16467	942	33	4	484	4	TOP2B	3	25646328	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	9969283	25646328	172376102	13	42460			1	55		2	2	31	G		5.9113e-05
TOP2B	7155	broad.mit.edu	37	chr3	25646358	25646358	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattactgtcaaatttagctGaatctaaaaattgcaaagcc	16	12	5	8	0	2	1	1	1	1	0	2	1	2	1	1	0	4	2	1	0	8	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:25646358G>C	ENST00000435706.2	-	33	4568	c.4367C>G	c.(4366-4368)tCa>tGa	p.S1456*	TOP2B_ENST00000264331.4_Nonsense_Mutation_p.S1461*|TOP2B_ENST00000542520.1_Nonsense_Mutation_p.S313*|TOP2B_ENST00000540199.1_Nonsense_Mutation_p.S313*			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	1461					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						AAATTTAGCTGAATCTAAAAA	0.338													C	25646358	G	C	25646358	4	2	431	1	0	0	0	0	0	1	0	0	16467	1294	45	4	514	4	TOP2B	3	25646358	Nonsense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	30	25646358	172376072	14	42461			1	55		2	2	31	G		5.9113e-05
ATP13A5	344905	broad.mit.edu	37	chr3	193036786	193036786	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctgaattgcttacctggctAagtgctcgacttctgaaaga	10	13	9	9	1	2	3	0	2	2	1	3	4	2	3	1	1	3	3	1	1	4	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:193036786A>C	ENST00000342358.4	-	17	2144	c.2027T>G	c.(2026-2028)tTa>tGa	p.L676*		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	676					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTACCTGGCTAAGTGCTCGAC	0.483													C	193036786	A	C	193036786	4	2	431	1	0	0	0	0	0	1	0	0	1132	372	13	5	1683	5	ATP13A5	3	193036786	Nonsense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	167390428	193036786	4985644	15	42462											
MUC4	4585	broad.mit.edu	37	chr3	195505859	195505859	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtggatgctgaggaagTgtcggtgacaggaagagggg	10	7	19	5	1	0	3	0	2	0	1	1	6	0	6	1	6	1	1	1	6	2	0			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr3:195505859T>C	ENST00000463781.3	-	2	13051	c.12592A>G	c.(12592-12594)Act>Gct	p.T4198A	MUC4_ENST00000475231.1_Missense_Mutation_p.T4198A|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	961					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.T4198A(2)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GCTGAGGAAGTGTCGGTGACA	0.602													C	195505859	T	C	195505859	3	2	431	1	0	0	0	0	1	0	0	0	10054	1696	59	3		3	MUC4	3	195505859	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	2469073	195505859	2516571	16	42463											
SORCS2	57537	broad.mit.edu	37	chr4	7728538	7728538	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggataattctgtgacaaCgcggttttcggacacgggcg	8	10	13	10	5	1	1	0	1	1	0	2	3	1	3	1	4	1	1	1	4	2	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:7728538C>A	ENST00000507866.2	+	21	2886	c.2777C>A	c.(2776-2778)aCg>aAg	p.T926K	SORCS2_ENST00000329016.9_Missense_Mutation_p.T754K	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	926						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						TCTGTGACAACGCGGTTTTCG	0.657													A	7728538	C	A	7728538	3	1	431	1	0	0	0	0	1	0	0	0	15025	536	19	4	2859	4	SORCS2	4	7728538	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		7728538	183425738	17	42464											
WDR19	57728	broad.mit.edu	37	chr4	39271708	39271708	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatgattctgcacagctaTatactagtaaaggtgaggcc	12	11	9	9	0	2	2	1	2	1	0	2	2	2	2	1	2	3	3	1	2	6	6			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:39271708T>A	ENST00000399820.3	+	31	3625	c.3471T>A	c.(3469-3471)taT>taA	p.Y1157*	WDR19_ENST00000288634.7_Nonsense_Mutation_p.Y997*	NM_025132.3	NP_079408.3	Q8NEZ3	WDR19_HUMAN	WD repeat domain 19	1157					cell projection organization	microtubule basal body|motile cilium|photoreceptor connecting cilium	binding			large_intestine(1)	1						TGCACAGCTATATACTAGTAA	0.473													A	39271708	T	A	39271708	4	1	431	1	0	0	0	0	0	1	0	0	17381	1413	49	5	3593	5	WDR19	4	39271708	Nonsense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	31543170	39271708	151882568	18	42465											
FRAS1	80144	broad.mit.edu	37	chr4	79240069	79240069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagcagctgtctgacgtggGcatcccctctggcgagtgtc	5	9	15	12	2	2	1	0	1	2	0	4	3	3	2	2	3	2	3	2	3	0	0			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:79240069G>A	ENST00000264895.6	+	18	2506	c.2066G>A	c.(2065-2067)gGc>gAc	p.G689D	FRAS1_ENST00000325942.6_Missense_Mutation_p.G689D|FRAS1_ENST00000264899.6_Missense_Mutation_p.G689D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	689					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TCTGACGTGGGCATCCCCTCT	0.532													A	79240069	G	A	79240069	3	1	431	1	0	0	0	0	1	0	0	0	6093	1203	42	2	2136	2	FRAS1	4	79240069	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	39968361	79240069	111914207	19	42466											
PPM1K	152926	broad.mit.edu	37	chr4	89190005	89190005	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggctacaaccagttcaaTaccatctcgcaatagggcta	13	9	7	12	1	2	0	1	0	1	0	3	0	2	0	2	2	3	4	2	2	7	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr4:89190005T>C	ENST00000608933.1	-	4	984	c.595A>G	c.(595-597)Att>Gtt	p.I199V	PPM1K_ENST00000508256.1_5'UTR|PPM1K_ENST00000295908.7_Missense_Mutation_p.I199V|PPM1K_ENST00000506423.1_5'UTR	NM_152542.4	NP_689755.3	Q8N3J5	PPM1K_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1K		PP2C-like.				protein dephosphorylation	mitochondrial matrix|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000192)		ACCAGTTCAATACCATCTCGC	0.428													C	89190005	T	C	89190005	3	2	431	1	0	0	0	0	1	0	0	0	12425	1406	49	3	539	3	PPM1K	4	89190005	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08	9949936	89190005	101964271	20	42467											
ERCC8	1161	broad.mit.edu	37	chr5	60170485	60170485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaggcatcttcaaaggccGgatttaattgtgattttgtt	9	16	9	7	1	2	1	1	1	1	0	3	2	3	2	2	3	0	2	2	3	2	7			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:60170485G>A	ENST00000426742.2	-	13	1408	c.974C>T	c.(973-975)cCg>cTg	p.P325L	ERCC8_ENST00000543101.1_Missense_Mutation_p.P230L|ERCC8_ENST00000462279.1_5'UTR|ERCC8_ENST00000265038.5_Missense_Mutation_p.P383L			Q13216	ERCC8_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 8	383					positive regulation of DNA repair|proteasomal ubiquitin-dependent protein catabolic process|protein autoubiquitination|protein polyubiquitination|response to oxidative stress|response to UV|transcription-coupled nucleotide-excision repair	Cul4A-RING ubiquitin ligase complex|nuclear matrix|nucleoplasm|nucleotide-excision repair complex|soluble fraction	protein binding|protein complex binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	14		Lung NSC(810;1.51e-06)|Prostate(74;0.0322)|Ovarian(174;0.0481)|Breast(144;0.077)				TTCAAAGGCCGGATTTAATTG	0.313													A	60170485	G	A	60170485	3	1	431	1	0	0	0	0	1	0	0	0	5260	1116	39	1	46	1	ERCC8	5	60170485	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08		60170485	120744775	21	42468											
TRIM23	373	broad.mit.edu	37	chr5	64910016	64910016	+	Frame_Shift_Del	DEL	T	T	-																															aaagctccaataaagcaaaaTtttttttcaatccccagaca																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:64910016delT	ENST00000231524.9	-	3	646	c.275delA	c.(274-276)aatfs	p.N92fs	TRIM23_ENST00000274327.7_Frame_Shift_Del_p.N92fs|TRIM23_ENST00000381018.3_Frame_Shift_Del_p.N92fs	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	92					interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding	p.N92I(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TAAAGCAAAATTTTTTTTCAA	0.358													-	64910016	T	-	64910016	7	5	431	1	0	1	0	1	0	0	0	0	16598	1493	52	0	1552	0	TRIM23	5	64910016	Frame_Shift_Del	DEL	T	TCGA-DU-A7TA-01A-11D-A33T-08	4739531	64910016	116005244	22	42469											
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	7	4	15	15	4	0	0	0	0	0	0	1	3	1	2	4	5	1	2	4	5	0	1			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612													A	141051740	G	A	141051740	3	1	431	1	0	0	0	0	1	0	0	0	843	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	76141724	141051740	39863520	23	42470											
GPRIN1	114787	broad.mit.edu	37	chr5	176026278	176026278	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttcccaagatttcaggCtctgcctttcctgtaaacat	8	14	5	14	0	2	1	1	0	1	1	4	1	4	1	4	1	2	2	4	1	3	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr5:176026278C>T	ENST00000303991.4	-	2	735	c.558G>A	c.(556-558)gaG>gaA	p.E186E		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	186						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGATTTCAGGCTCTGCCTTTC	0.502													T	176026278	C	T	176026278	2	4	431	1	0	0	0	0	0	0	0	1	6784	796	28	2		2	GPRIN1	5	176026278	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	34974538	176026278	4888982	24	42471											
KIAA1586	57691	broad.mit.edu	37	chr6	56919323	56919325	+	In_Frame_Del	DEL	AAT	AAT	-																															atgattttcgggaatttgtaAataataatataaaatcaaac																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:56919323_56919325delAAT	ENST00000370733.4	+	4	2233_2235	c.2026_2028delAAT	c.(2026-2028)aatdel	p.N678del	KIAA1586_ENST00000545356.1_In_Frame_Del_p.N651del	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	678							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			GGAATTTGTAAATAATAATATAA	0.276													-	56919325	AAT	-	56919323	7	5	431	1	0	1	0	1	0	0	0	0	8303	14	1	0	2040	0	KIAA1586	6	56919323	In_Frame_Del	DEL	AAT	TCGA-DU-A7TA-01A-11D-A33T-08		56919323	114195744	25	42472											
PTPRK	5796	broad.mit.edu	37	chr6	128312442	128312442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttttcttcctcttacccgGccaacctcaactaaatttgt	8	16	3	14	1	3	0	1	0	2	0	4	0	4	0	4	1	3	0	4	1	5	6			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:128312442G>A	ENST00000368227.3	-	21	3393	c.3027C>T	c.(3025-3027)ggC>ggT	p.G1009G	PTPRK_ENST00000368207.3_Silent_p.G1024G|PTPRK_ENST00000532331.1_Silent_p.G1014G|PTPRK_ENST00000368213.5_Silent_p.G998G|PTPRK_ENST00000368215.3_Silent_p.G991G|PTPRK_ENST00000368210.3_Silent_p.G1010G|PTPRK_ENST00000368226.4_Silent_p.G992G			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	991	Tyrosine-protein phosphatase 1.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		CTCTTACCCGGCCAACCTCAA	0.348													A	128312442	G	A	128312442	2	1	431	1	0	0	0	0	0	0	0	1	12893	1190	42	2		2	PTPRK	6	128312442	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	71393119	128312442	42802625	26	42473											
MLLT4	4301	broad.mit.edu	37	chr6	168315910	168315910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctgcagagtcaatgccGccctgaccatccagctcttc	8	8	9	16	2	2	2	1	1	1	1	4	3	3	2	4	0	3	3	4	0	1	1			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr6:168315910G>A	ENST00000366806.2	+	18	2483	c.2341G>A	c.(2341-2343)Gcc>Acc	p.A781T	MLLT4_ENST00000344191.4_Missense_Mutation_p.A781T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A781T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A781T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A765T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A788T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A780T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	781	Dilute.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGTCAATGCCGCCCTGACCAT	0.537			T	MLL	AL								A	168315910	G	A	168315910	3	1	431	1	0	0	0	0	1	0	0	0	9704	1087	38	1	2411	1	MLLT4	6	168315910	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	40003468	168315910	2799157	27	42474											
GLI3	2737	broad.mit.edu	37	chr7	42079655	42079655	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acctgattgcacttgcagatAagtgaccataggagccactt	12	10	9	10	0	0	3	0	2	0	1	0	4	0	4	3	1	3	2	3	1	2	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:42079655A>T	ENST00000395925.3	-	7	1094	c.1010T>A	c.(1009-1011)tTa>tAa	p.L337*	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	337					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						ACTTGCAGATAAGTGACCATA	0.413									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				T	42079655	A	T	42079655	4	4	431	1	0	0	0	0	0	1	0	0	6495	372	13	5	3768	5	GLI3	7	42079655	Nonsense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08		42079655	117059008	28	42475											
CCDC132	55610	broad.mit.edu	37	chr7	92887696	92887696	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagatgtacggttaagtgaaAtgctggaggtaagttaacaa	15	10	12	4	1	0	2	0	1	0	1	0	3	0	3	0	3	3	5	0	3	6	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:92887696A>G	ENST00000544910.1	+	9	698	c.478A>G	c.(478-480)Atg>Gtg	p.M160V	CCDC132_ENST00000317751.6_5'UTR|CCDC132_ENST00000305866.5_Missense_Mutation_p.M190V|CCDC132_ENST00000251739.5_Missense_Mutation_p.M190V|CCDC132_ENST00000541136.1_Start_Codon_SNP_p.M1V|CCDC132_ENST00000535481.1_Intron	NM_001257998.1	NP_001244927.1	Q96JG6	CC132_HUMAN	coiled-coil domain containing 132	190										endometrium(1)|large_intestine(2)|lung(5)	8	all_cancers(62;2.64e-11)|all_epithelial(64;1.4e-10)|Breast(17;0.000675)|Lung NSC(181;0.0618)|all_lung(186;0.0837)		STAD - Stomach adenocarcinoma(171;0.000302)			GTTAAGTGAAATGCTGGAGGT	0.313													G	92887696	A	G	92887696	3	3	431	1	0	0	0	0	1	0	0	0	2793	101	4	3	598	3	CCDC132	7	92887696	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	50808041	92887696	66250967	29	42476											
SMURF1	57154	broad.mit.edu	37	chr7	98655082	98655082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggcattggagagcagcCgcacacagcccaggaagcca	12	4	13	12	1	0	2	0	1	0	1	0	4	0	3	3	3	4	3	3	3	1	1			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:98655082C>T	ENST00000361125.1	-	4	615	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	SMURF1_ENST00000480055.1_5'UTR|SMURF1_ENST00000361368.2_Missense_Mutation_p.R99Q	NM_020429.2	NP_065162.1	Q9HCE7	SMUF1_HUMAN	SMAD specific E3 ubiquitin protein ligase 1	99	C2.				BMP signaling pathway|cell differentiation|ectoderm development|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of protein ubiquitination|proteasomal ubiquitin-dependent protein catabolic process|protein export from nucleus|protein localization at cell surface|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|plasma membrane	activin binding|I-SMAD binding|R-SMAD binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|urinary_tract(1)	25	all_cancers(62;1.05e-08)|all_epithelial(64;4.34e-09)|Lung NSC(181;0.00902)|all_lung(186;0.0145)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)|Lung(104;0.224)			GGAGAGCAGCCGCACACAGCC	0.458													T	98655082	C	T	98655082	3	4	431	1	0	0	0	0	1	0	0	0	14913	652	23	1	2041	1	SMURF1	7	98655082	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	5767386	98655082	60483581	30	42477											
MOGAT3	346606	broad.mit.edu	37	chr7	100839296	100839296	+	Nonsense_Mutation	SNP	C	C	A																															tgctcctcgaagagctgctcCagggccgtcatgtagagggc																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839296C>A	ENST00000379423.3	-	6	814	c.754G>T	c.(754-756)Gga>Tga	p.G252*	MOGAT3_ENST00000223114.4_Silent_p.L319L|MOGAT3_ENST00000440203.2_3'UTR			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGAGCTGCTCCAGGGCCGTCA	0.657													A	100839296	C	A	100839296	4	1	431	1	0	0	0	0	0	1	0	0	9772	581	21	4	72	4	MOGAT3	7	100839296	Nonsense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	2184214	100839296	58299367	31	42478	139	2									
MOGAT3	346606	broad.mit.edu	37	chr7	100839297	100839297	+	Missense_Mutation	SNP	A	A	G																															gctcctcgaagagctgctccAgggccgtcatgtagagggcg																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:100839297A>G	ENST00000223114.4	-	7	1122	c.956T>C	c.(955-957)cTg>cCg	p.L319P	MOGAT3_ENST00000379423.3_Silent_p.P251P|MOGAT3_ENST00000440203.2_3'UTR	NM_178176.2	NP_835470.1	Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	319					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					GAGCTGCTCCAGGGCCGTCAT	0.662													G	100839297	A	G	100839297	3	3	431	1	0	0	0	0	1	0	0	0	9772	188	7	3	73	3	MOGAT3	7	100839297	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	1	100839297	58299366	32	42479	139	2									
ST7	7982	broad.mit.edu	37	chr7	116739883	116739883	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggcacttcctcactaatAtcagggcttattttggtaag	11	13	8	9	0	2	0	2	0	0	0	3	0	3	0	1	3	0	3	1	3	4	7			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:116739883A>G	ENST00000265437.5	+	2	433	c.219A>G	c.(217-219)atA>atG	p.I73M	ST7_ENST00000393451.3_Missense_Mutation_p.I73M|ST7_ENST00000465133.1_Missense_Mutation_p.I30M|ST7-AS2_ENST00000432541.1_RNA|ST7_ENST00000393449.1_Missense_Mutation_p.I73M|ST7_ENST00000393447.4_Missense_Mutation_p.I30M|ST7_ENST00000422922.1_Missense_Mutation_p.I27M|ST7_ENST00000393444.3_Missense_Mutation_p.I30M|ST7_ENST00000393446.2_Missense_Mutation_p.I73M|ST7_ENST00000393443.1_Missense_Mutation_p.I23M|ST7_ENST00000432298.1_Missense_Mutation_p.I27M|ST7_ENST00000323984.3_Missense_Mutation_p.I73M|ST7_ENST00000487459.1_3'UTR	NM_021908.2	NP_068708.1	Q9NRC1	ST7_HUMAN	suppression of tumorigenicity 7	73						integral to membrane	binding	p.I73I(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(1)	21	all_cancers(3;3.88e-07)|all_epithelial(6;3.42e-07)|Lung NSC(10;0.00072)|all_lung(10;0.000847)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CCTCACTAATATCAGGGCTTA	0.373													G	116739883	A	G	116739883	3	3	431	1	0	0	0	0	1	0	0	0	15325	439	16	3	225	3	ST7	7	116739883	Missense_Mutation	SNP	A	TCGA-DU-A7TA-01A-11D-A33T-08	15900586	116739883	42398780	33	42480											
OR2A2	442361	broad.mit.edu	37	chr7	143807373	143807373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccagacaaaggagggccGcataaaggccttctccacct	12	6	10	13	1	1	1	0	0	1	1	3	3	2	2	5	3	0	1	5	3	3	2			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:143807373G>A	ENST00000408979.2	+	1	767	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					AAGGAGGGCCGCATAAAGGCC	0.522													A	143807373	G	A	143807373	3	1	431	1	0	0	0	0	1	0	0	0	11053	1087	38	1	700	1	OR2A2	7	143807373	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	27067490	143807373	15331290	34	42481											
WDR60	55112	broad.mit.edu	37	chr7	158669356	158669359	+	Frame_Shift_Del	DEL	AGAG	AGAG	-																															ctgaaagaggagatgaagatAgagaaagaagataccgagaa																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr7:158669356_158669359delAGAG	ENST00000407559.3	+	4	705_708	c.547_550delAGAG	c.(547-552)agagaafs	p.RE183fs		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	183										NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		AGATGAAGATAGAGAAAGAAGATA	0.348													-	158669359	AGAG	-	158669356	7	5	431	1	0	1	0	1	0	0	0	0	17413	412	15	0	561	0	WDR60	7	158669356	Frame_Shift_Del	DEL	AGAG	TCGA-DU-A7TA-01A-11D-A33T-08	14861983	158669356	469307	35	42482											
INTS10	55174	broad.mit.edu	37	chr8	19701703	19701703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagctgtcaataaaatttgCcaacaaggaaatttccaata	19	10	5	7	0	1	0	1	0	0	0	2	1	2	1	2	1	3	1	2	1	9	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:19701703C>T	ENST00000397977.3	+	15	2234	c.1836C>T	c.(1834-1836)tgC>tgT	p.C612C		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	612					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		ATAAAATTTGCCAACAAGGAA	0.368													T	19701703	C	T	19701703	2	4	431	1	0	0	0	0	0	0	0	1	7834	747	26	2		2	INTS10	8	19701703	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		19701703	126662319	36	42483											
RP1	6101	broad.mit.edu	37	chr8	55534814	55534814	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggatctctcagcgtgtgtaCcccaagggaaatgcaaagtc	11	8	12	10	1	2	0	1	0	1	0	4	2	2	2	2	2	3	2	2	2	4	1			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr8:55534814C>G	ENST00000220676.1	+	3	901	c.753C>G	c.(751-753)taC>taG	p.Y251*		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	251			Y -> C (in dbSNP:rs16920614).		axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGCGTGTGTACCCCAAGGGAA	0.433													G	55534814	C	G	55534814	4	3	431	1	0	0	0	0	0	1	0	0	13623	518	18	4	759	4	RP1	8	55534814	Nonsense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	35833111	55534814	90829208	37	42484											
PSIP1	11168	broad.mit.edu	37	chr9	15469946	15469948	+	In_Frame_Del	DEL	CTC	CTC	-																															aataactaacctcgcttcttCtccactttcttaacttctgg																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:15469946_15469948delCTC	ENST00000380733.4	-	11	1364_1366	c.1021_1023delGAG	c.(1021-1023)gagdel	p.E341del	PSIP1_ENST00000380738.4_In_Frame_Del_p.E341del			O75475	PSIP1_HUMAN	PC4 and SFRS1 interacting protein 1	341					initiation of viral infection|interspecies interaction between organisms|nuclear mRNA 5'-splice site recognition|provirus integration|regulation of transcription, DNA-dependent|response to heat|response to oxidative stress|transcription, DNA-dependent	cytosol|nuclear heterochromatin|nuclear periphery|nucleoplasm|transcriptionally active chromatin	activating transcription factor binding|chromatin binding|DNA secondary structure binding|RNA polymerase II transcription coactivator activity			breast(2)|endometrium(2)|kidney(1)|lung(3)|prostate(1)	9				GBM - Glioblastoma multiforme(50;2.38e-06)		CTCGCTTCTTCTCCACTTTCTTA	0.296													-	15469948	CTC	-	15469946	7	5	431	1	0	1	0	1	0	0	0	0	12748	912	32	0	593	0	PSIP1	9	15469946	In_Frame_Del	DEL	CTC	TCGA-DU-A7TA-01A-11D-A33T-08		15469946	125743485	38	42485											
KIF24	347240	broad.mit.edu	37	chr9	34311231	34311233	+	In_Frame_Del	DEL	CTT	CTT	-																															actcctaatttggagtagtcCttcattgtaatcttggctaa																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr9:34311231_34311233delCTT	ENST00000379166.2	-	2	231_233	c.112_114delAAG	c.(112-114)aagdel	p.K38del	KIF24_ENST00000402558.2_In_Frame_Del_p.K38del|KIF24_ENST00000345050.2_In_Frame_Del_p.K38del|KIF24_ENST00000379174.3_In_Frame_Del_p.K38del	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	38	SAM.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			TGGAGTAGTCCTTCATTGTAATC	0.365													-	34311233	CTT	-	34311231	7	5	431	1	0	1	0	1	0	0	0	0	8350	680	24	0	4040	0	KIF24	9	34311231	In_Frame_Del	DEL	CTT	TCGA-DU-A7TA-01A-11D-A33T-08	18841285	34311231	106902200	39	42486											
NEBL	10529	broad.mit.edu	37	chr10	21139359	21139359	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgagcctcctttgaagcttGatatgatggtgtctcaacaa	10	14	9	8	0	1	4	1	4	1	0	3	4	2	4	2	1	3	1	2	1	4	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:21139359G>C	ENST00000377122.4	-	11	1477	c.1081C>G	c.(1081-1083)Caa>Gaa	p.Q361E	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	361					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTGAAGCTTGATATGATGGT	0.313													C	21139359	G	C	21139359	3	2	431	1	0	0	0	0	1	0	0	0	10379	1299	45	4	2035	4	NEBL	10	21139359	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08		21139359	114395388	40	42487											
C10orf12	26148	broad.mit.edu	37	chr10	98741872	98741872	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccttacaattccagcccctaGacatacagtagatgtgcagc	12	9	7	13	0	0	2	0	0	0	2	1	2	1	2	4	0	5	2	4	0	5	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr10:98741872G>C	ENST00000286067.2	+	1	832	c.725G>C	c.(724-726)aGa>aCa	p.R242T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	242										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		CCAGCCCCTAGACATACAGTA	0.498													C	98741872	G	C	98741872	3	2	431	1	0	0	0	0	1	0	0	0	1600	942	33	4	727	4	C10orf12	10	98741872	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	77602513	98741872	36792875	41	42488											
FAM111B	374393	broad.mit.edu	37	chr11	58892666	58892666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataaactcacaagttagaCggaggccgcatctgggtagg	14	7	12	8	2	2	1	1	0	1	1	2	2	2	2	1	4	1	3	1	4	6	3			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:58892666C>T	ENST00000343597.3	+	4	1287	c.1096C>T	c.(1096-1098)Cgg>Tgg	p.R366W	FAM111B_ENST00000411426.1_Missense_Mutation_p.R336W|FAM111B_ENST00000529618.1_Missense_Mutation_p.R336W	NM_198947.3	NP_945185.1	Q6SJ93	F111B_HUMAN	family with sequence similarity 111, member B	366							catalytic activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(12)|ovary(3)|pancreas(1)|skin(1)	40						ACAAGTTAGACGGAGGCCGCA	0.363													T	58892666	C	T	58892666	3	4	431	1	0	0	0	0	1	0	0	0	5445	527	19	1	1102	1	FAM111B	11	58892666	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		58892666	76113850	42	42489											
ARHGAP20	57569	broad.mit.edu	37	chr11	110479714	110479714	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaaaaacttaccaatgaGtgggtatggagcctcttctt	11	13	9	8	0	2	1	0	1	2	0	2	2	2	2	2	2	4	2	2	2	5	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr11:110479714G>C	ENST00000260283.4	-	9	1053	c.769C>G	c.(769-771)Ctc>Gtc	p.L257V	ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L234V|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L221V|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L231V|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L231V	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	257	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		TTACCAATGAGTGGGTATGGA	0.358													C	110479714	G	C	110479714	3	2	431	1	0	0	0	0	1	0	0	0	873	1029	36	4	2838	4	ARHGAP20	11	110479714	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	51587048	110479714	24526802	43	42490											
KDM5A	5927	broad.mit.edu	37	chr12	419090	419090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttttcctcctatttttgCcactcccatatacaccaatg	8	17	2	14	0	0	0	0	0	0	0	3	0	3	0	5	0	2	0	5	0	4	8			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:419090C>T	ENST00000399788.2	-	22	3619	c.3257G>A	c.(3256-3258)gGc>gAc	p.G1086D	KDM5A_ENST00000382815.4_Missense_Mutation_p.G1086D	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	1086					chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						CCTATTTTTGCCACTCCCATA	0.378			T	NUP98	AML								T	419090	C	T	419090	3	4	431	1	0	0	0	0	1	0	0	0	8191	739	26	2	1843	2	KDM5A	12	419090	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		419090	133432805	44	42491											
NUAK1	9891	broad.mit.edu	37	chr12	106480621	106480621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtacagctcccctttgctgGcatattccatgatgatcaca	9	12	7	13	1	1	2	1	2	0	0	3	2	3	2	3	1	3	4	3	1	2	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr12:106480621G>A	ENST00000261402.2	-	3	1783	c.404C>T	c.(403-405)gCc>gTc	p.A135V		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	135	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						CCCTTTGCTGGCATATTCCAT	0.493													A	106480621	G	A	106480621	3	1	431	1	0	0	0	0	1	0	0	0	10788	1203	42	2	1601	2	NUAK1	12	106480621	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	106061531	106480621	27371274	45	42492											
UGGT2	55757	broad.mit.edu	37	chr13	96665687	96665690	+	Frame_Shift_Del	DEL	TTTG	TTTG	-																															atcaccactggtaagttctcTttgtttgtaggaaatttgtg																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr13:96665687_96665690delTTTG	ENST00000376747.3	-	5	601_604	c.531_534delCAAA	c.(529-534)aacaaafs	p.NK177fs	UGGT2_ENST00000397618.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000376714.3_Frame_Shift_Del_p.NK177fs|UGGT2_ENST00000467305.1_5'UTR|UGGT2_ENST00000376712.4_Frame_Shift_Del_p.NK177fs	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	177					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						GTAAGTTCTCTTTGTTTGTAGGAA	0.328													-	96665690	TTTG	-	96665687	7	5	431	1	0	1	0	1	0	0	0	0	17044	1606	56	0	4156	0	UGGT2	13	96665687	Frame_Shift_Del	DEL	TTTG	TCGA-DU-A7TA-01A-11D-A33T-08		96665687	18504191	46	42493											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								A	90631838	C	A	90631838	3	1	431	1	0	0	0	0	1	0	0	0	7553	681	24	4	875	4	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08		90631838	11899554	47	42494											
SMG1	23049	broad.mit.edu	37	chr16	18823290	18823293	+	Frame_Shift_Del	DEL	CTGA	CTGA	-																															ctttcccagttttagggtctCtgactgcctttttaggacta																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:18823290_18823293delCTGA	ENST00000446231.2	-	61	11190_11193	c.10778_10781delTCAG	c.(10777-10782)gtcagafs	p.VR3593fs	RP11-1035H13.2_ENST00000569096.1_RNA|SMG1_ENST00000389467.3_Frame_Shift_Del_p.VR3594fs			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	3593					DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						TTTAGGGTCTCTGACTGCCTTTTT	0.377													-	18823293	CTGA	-	18823290	7	5	431	1	0	1	0	1	0	0	0	0	14889	913	32	0	216	0	SMG1	16	18823290	Frame_Shift_Del	DEL	CTGA	TCGA-DU-A7TA-01A-11D-A33T-08		18823290	71531463	48	42495											
PRSS8	5652	broad.mit.edu	37	chr16	31143813	31143813	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtcctcttggacaaagtgCggctcctcaggcttggcgtc	6	11	12	12	2	2	0	1	0	1	0	5	1	4	1	2	4	1	2	2	4	1	2			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr16:31143813C>T	ENST00000317508.6	-	5	905	c.642G>A	c.(640-642)ccG>ccA	p.P214P	PRSS8_ENST00000568261.1_Silent_p.P160P	NM_002773.3	NP_002764.1	Q16651	PRSS8_HUMAN	protease, serine, 8	214	Peptidase S1.				proteolysis	extracellular space|integral to membrane|plasma membrane	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)	8						GGACAAAGTGCGGCTCCTCAG	0.612													T	31143813	C	T	31143813	2	4	431	1	0	0	0	0	0	0	0	1	12720	755	27	1		1	PRSS8	16	31143813	Silent	SNP	C	TCGA-DU-A7TA-01A-11D-A33T-08	12320523	31143813	59210940	49	42496											
USP6	9098	broad.mit.edu	37	chr17	5039223	5039223	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaggcactccctgccaGgtaggtgaacagctgcccgt	8	7	14	12	1	0	2	0	2	0	1	1	3	1	2	3	3	4	3	3	3	2	1			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:5039223G>A	ENST00000574788.1	+	17	2894	c.664G>A	c.(664-666)Gga>Aga	p.G222R	USP6_ENST00000250066.6_Splice_Site_p.G222R|USP6_ENST00000332776.4_Splice_Site_p.G222R|USP6_ENST00000304328.5_5'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	222	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTCCCTGCCAGGTAGGTGAAC	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5039223	G	A	5039223	5	1	431	1	0	0	0	0	0	0	1	0	17188	1014	35	2	694	2	USP6	17	5039223	Splice_Site	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08		5039223	76155987	50	42497											
TP53	7157	broad.mit.edu	37	chr17	7579323	7579324	+	Frame_Shift_Ins	INS	-	-	A																															caactgaccgtgcaagtcacINSagacttggctgtcccagaat																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:7579323_7579324insA	ENST00000420246.2	-	4	495_496	c.363_364insT	c.(361-366)tctgtgfs	p.V122fs	TP53_ENST00000269305.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.V122fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.V122fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.V122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (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.0?(8)|p.G59fs*23(3)|p.S121fs*27(1)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)		GTGCAAGTCACAGACTTGGCTG	0.559		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)			A	7579324	-	A	7579323	7	5	431	1	0	1	1	0	0	0	0	0	16482	478	17	0	938	0	TP53	17	7579323	Frame_Shift_Ins	INS	-	TCGA-DU-A7TA-01A-11D-A33T-08	2540100	7579323	73615887	51	42498											
AATF	26574	broad.mit.edu	37	chr17	35306431	35306431	+	Frame_Shift_Del	DEL	G	G	-																															cgggagctggtgacgatggcGgggccgcagcccctggcgct																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:35306431delG	ENST00000225402.5	+	1	257	c.6delG	c.(4-6)gcgfs	p.A2fs		NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	2				AG -> GR (in Ref. 2; AAD52016).	anti-apoptosis|apoptosis|induction of apoptosis by extracellular signals|negative regulation of superoxide anion generation|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|response to DNA damage stimulus	centrosome|focal adhesion|nucleolus	leucine zipper domain binding|sequence-specific DNA binding transcription factor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TGACGATGGCGGGGCCGCAGC	0.687													-	35306431	G	-	35306431	7	5	431	1	0	1	0	1	0	0	0	0	25	1103	39	0	8	0	AATF	17	35306431	Frame_Shift_Del	DEL	G	TCGA-DU-A7TA-01A-11D-A33T-08	27727108	35306431	45888779	52	42499											
LRRC37A	9884	broad.mit.edu	37	chr17	44408247	44408247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctgtggagaacgctgccGaagaaaaaaggctcacgagt	14	6	12	9	3	2	2	1	0	1	2	2	5	2	2	1	2	2	2	1	2	5	0			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr17:44408247G>A	ENST00000320254.5	+	9	3607	c.3604G>A	c.(3604-3606)Gaa>Aaa	p.E1202K	LRRC37A_ENST00000393465.3_Missense_Mutation_p.E1202K|ARL17B_ENST00000570618.1_Intron|LRRC37A_ENST00000496930.1_Missense_Mutation_p.E240K|ARL17B_ENST00000575698.1_Intron|ARL17B_ENST00000434041.2_Intron|ARL17B_ENST00000575960.1_Intron	NM_014834.4	NP_055649.4	A6NMS7	L37A1_HUMAN	leucine rich repeat containing 37A	1202						integral to membrane				endometrium(1)|lung(2)|pancreas(6)|prostate(1)|skin(1)	11		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		GAACGCTGCCGAAGAAAAAAG	0.587													A	44408247	G	A	44408247	3	1	431	1	0	0	0	0	1	0	0	0	9061	1059	37	1	3638	1	LRRC37A	17	44408247	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	9101816	44408247	36786963	53	42500											
MUC16	94025	broad.mit.edu	37	chr19	9049380	9049380	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagtcaaagttggaatagTcatatttctgtctgtcccag	12	13	9	7	0	4	1	2	0	2	1	5	2	5	2	1	1	0	1	1	1	5	4			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:9049380T>C	ENST00000397910.4	-	5	32454	c.32251A>G	c.(32251-32253)Act>Gct	p.T10751A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10753	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						GTTGGAATAGTCATATTTCTG	0.463													C	9049380	T	C	9049380	3	2	431	1	0	0	0	0	1	0	0	0	10049	1667	58	3	11592	3	MUC16	19	9049380	Missense_Mutation	SNP	T	TCGA-DU-A7TA-01A-11D-A33T-08		9049380	50079603	54	42501											
KEAP1	9817	broad.mit.edu	37	chr19	10602360	10602360	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggggcacgctcatgggggcGcagggcgaccactgattggt	6	6	18	11	4	1	1	1	1	0	0	1	2	1	1	1	6	0	3	1	6	0	1			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:10602360G>A	ENST00000171111.5	-	3	1765	c.1218C>T	c.(1216-1218)tgC>tgT	p.C406C	KEAP1_ENST00000393623.2_Silent_p.C406C	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)			TCATGGGGGCGCAGGGCGACC	0.652													A	10602360	G	A	10602360	2	1	431	1	0	0	0	0	0	0	0	1	8199	1079	38	1		1	KEAP1	19	10602360	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	1552980	10602360	48526623	55	42502											
SPACA4	171169	broad.mit.edu	37	chr19	49110580	49110580	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagcctggcactggggctGggtatgctgcttcctccacg	5	9	13	14	1	0	0	0	0	0	0	2	0	2	0	4	4	3	5	4	4	1	2			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:49110580G>T	ENST00000321762.1	+	1	581	c.345G>T	c.(343-345)ctG>ctT	p.L115L	FAM83E_ENST00000263266.3_Intron	NM_133498.2	NP_598005.1	Q8TDM5	SACA4_HUMAN	sperm acrosome associated 4	115					cell adhesion	acrosomal vesicle|anchored to membrane|plasma membrane				central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)	5		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000112)|GBM - Glioblastoma multiforme(486;0.00615)|Epithelial(262;0.0155)		CACTGGGGCTGGGTATGCTGC	0.642													T	49110580	G	T	49110580	2	4	431	1	0	0	0	0	0	0	0	1	15068	1335	47	4		4	SPACA4	19	49110580	Silent	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	38508220	49110580	10018403	56	42503											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56733663	56733663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacagaggctatttttggggGgtccttcccctcctttgctc	4	14	10	13	0	0	1	0	0	0	1	4	1	3	1	4	4	1	2	4	4	1	5			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:56733663G>C	ENST00000587340.1	-	7	1467	c.772C>G	c.(772-774)Ccc>Gcc	p.P258A	ZSCAN5A_ENST00000254165.3_Missense_Mutation_p.P141A|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.P257A|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.P258A|ZSCAN5A_ENST00000587492.1_Missense_Mutation_p.P112A			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	258					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						ATTTTTGGGGGGTCCTTCCCC	0.502													C	56733663	G	C	56733663	3	2	431	1	0	0	0	0	1	0	0	0	18335	1232	43	4	722	4	ZSCAN5A	19	56733663	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	7623083	56733663	2395320	57	42504											
ZNF8	7554	broad.mit.edu	37	chr19	58805612	58805612	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacagggagtgtcagagccaGagtctggcactcaaggagca	12	5	15	9	0	3	2	2	0	1	2	3	5	3	4	1	3	2	2	1	3	1	0			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr19:58805612G>C	ENST00000196548.5	+	4	569	c.438G>C	c.(436-438)caG>caC	p.Q146H	AC010642.1_ENST00000591325.1_3'UTR|ZNF8_ENST00000608843.1_Missense_Mutation_p.Q146H			P17098	ZNF8_HUMAN	zinc finger protein 8	146					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|skin(1)	19		all_cancers(17;6.46e-05)|Lung NSC(17;0.0233)|all_neural(62;0.0381)|all_epithelial(17;0.0427)|all_lung(17;0.057)|Ovarian(87;0.17)|Colorectal(82;0.227)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.00619)		GTCAGAGCCAGAGTCTGGCAC	0.517													C	58805612	G	C	58805612	3	2	431	1	0	0	0	0	1	0	0	0	18266	933	33	4	452	4	ZNF8	19	58805612	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	2071949	58805612	323371	58	42505											
SEC14L2	23541	broad.mit.edu	37	chr22	30811775	30811776	+	Frame_Shift_Del	DEL	AT	AT	-																															gaaggaggttttactgaaacAtatcagccctgaccaggtgc																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:30811775_30811776delAT	ENST00000312932.9	+	9	952_953	c.692_693delAT	c.(691-693)catfs	p.H231fs	RP4-539M6.19_ENST00000439838.1_Frame_Shift_Del_p.H65fs|SEC14L2_ENST00000405717.3_Frame_Shift_Del_p.H231fs|SEC14L2_ENST00000403484.1_Frame_Shift_Del_p.H157fs|SEC14L2_ENST00000402592.3_Frame_Shift_Del_p.H148fs	NM_012429.3	NP_036561.1	O76054	S14L2_HUMAN	SEC14-like 2 (S. cerevisiae)	231	CRAL-TRIO.				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	phospholipid binding|transporter activity|vitamin E binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(1)	10					Vitamin E(DB00163)	TTACTGAAACATATCAGCCCTG	0.5													-	30811776	AT	-	30811775	7	5	431	1	0	1	0	1	0	0	0	0	14075	217	8	0	726	0	SEC14L2	22	30811775	Frame_Shift_Del	DEL	AT	TCGA-DU-A7TA-01A-11D-A33T-08		30811775	20492791	59	42506											
EP300	2033	broad.mit.edu	37	chr22	41523588	41523588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacagctgatccagagaagcGcaagctcatccagcagcagc	13	5	10	13	1	1	2	1	1	0	1	3	3	3	2	2	0	7	5	2	0	3	1			TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chr22:41523588G>A	ENST00000263253.7	+	4	2223	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	335					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						CCAGAGAAGCGCAAGCTCATC	0.602			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				A	41523588	G	A	41523588	3	1	431	1	0	0	0	0	1	0	0	0	5189	1087	38	1	1018	1	EP300	22	41523588	Missense_Mutation	SNP	G	TCGA-DU-A7TA-01A-11D-A33T-08	10711813	41523588	9780978	60	42507											
ATRX	546	broad.mit.edu	37	chrX	76777841	76777841	+	Frame_Shift_Del	DEL	G	G	-																															ggggtaaattggtcccagttGgtatgttgaaacgcatggtc																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:76777841delG	ENST00000373344.5	-	32	7089	c.6875delC	c.(6874-6876)ccafs	p.P2292fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.P2254fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2292					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			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)	GGTCCCAGTTGGTATGTTGAA	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76777841	G	-	76777841	7	5	431	1	0	1	0	1	0	0	0	0	1213	1348	47	0	619	0	ATRX	23	76777841	Frame_Shift_Del	DEL	G	TCGA-DU-A7TA-01A-11D-A33T-08		76777841	78492719	61	42508											
BHLHB9	80823	broad.mit.edu	37	chrX	102004419	102004421	+	In_Frame_Del	DEL	GAG	GAG	-																															gcaaacctaggtcaggggctGaggaggaggaggaagagaat																										TCGA-DU-A7TA-01A-11D-A33T-08	TCGA-DU-A7TA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0c0801b-66dc-42e3-86a5-2eef07a28568	e3ea1f08-6af4-4119-8fdc-77932f0ffb07	g.chrX:102004419_102004421delGAG	ENST00000372735.1	+	4	1081_1083	c.496_498delGAG	c.(496-498)gagdel	p.E171del	BHLHB9_ENST00000457056.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000448867.1_In_Frame_Del_p.E171del|BHLHB9_ENST00000361229.4_In_Frame_Del_p.E171del|BHLHB9_ENST00000447531.1_In_Frame_Del_p.E171del			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	171	Poly-Glu.					cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						GTCAGGGGCTGAGGAGGAGGAGG	0.488													-	102004421	GAG	-	102004419	7	5	431	1	0	1	0	1	0	0	0	0	1426	1291	45	0	498	0	BHLHB9	23	102004419	In_Frame_Del	DEL	GAG	TCGA-DU-A7TA-01A-11D-A33T-08	25226578	102004419	53266141	62	42509											
TNFRSF25	8718	broad.mit.edu	37	chr1	6521665	6521665	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	atctccacctccacggcttcGatctctgcctcgcgcagccc	5	9	7	20	4	2	0	0	0	2	0	7	1	3	0	5	1	2	2	5	1	0	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:6521665G>C	ENST00000377782.3	-	10	1177	c.1110C>G	c.(1108-1110)atC>atG	p.I370M	TNFRSF25_ENST00000348333.3_Missense_Mutation_p.I316M|TNFRSF25_ENST00000351748.3_Missense_Mutation_p.I178M|TNFRSF25_ENST00000351959.5_Missense_Mutation_p.I324M|TNFRSF25_ENST00000356876.3_Missense_Mutation_p.I361M	NM_148965.1	NP_683866.1	Q93038	TNR25_HUMAN	tumor necrosis factor receptor superfamily, member 25	361	Death.		R -> L (in dbSNP:rs1064590).		apoptosis|induction of apoptosis by extracellular signals	cytosol|extracellular region|integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(4)|prostate(1)|stomach(1)	10	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Acute lymphoblastic leukemia(12;0.00157)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;4.58e-35)|GBM - Glioblastoma multiforme(13;3.06e-27)|Colorectal(212;6.01e-08)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|BRCA - Breast invasive adenocarcinoma(365;0.00105)|STAD - Stomach adenocarcinoma(132;0.00158)|READ - Rectum adenocarcinoma(331;0.0419)		CCACGGCTTCGATCTCTGCCT	0.697													C	6521665	G	C	6521665	3	2	432	1	0	0	0	0	1	0	0	0	16396	1048	37	4	174	4	TNFRSF25	1	6521665	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		6521665	242728956	1	42510											
ZMYM6	9204	broad.mit.edu	37	chr1	35476613	35476613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggcaccgccgaagagtttgTtccttttggcttgctaaata	8	13	11	9	2	0	1	0	0	0	1	1	2	1	1	3	2	1	5	3	2	4	7			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:35476613T>C	ENST00000357182.4	-	9	1314	c.1087A>G	c.(1087-1089)Aca>Gca	p.T363A	ZMYM6_ENST00000493328.1_5'UTR|ZMYM6_ENST00000373340.2_Missense_Mutation_p.T363A|ZMYM6_ENST00000487874.1_Missense_Mutation_p.T363A	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	363					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				GAAGAGTTTGTTCCTTTTGGC	0.433													C	35476613	T	C	35476613	3	2	432	1	0	0	0	0	1	0	0	0	17805	1725	60	3	2922	3	ZMYM6	1	35476613	Missense_Mutation	SNP	T	TCGA-DU-A7TB-01A-11D-A33T-08	28954948	35476613	213774008	2	42511											
NT5C1A	84618	broad.mit.edu	37	chr1	40131320	40131320	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgttcacggcctccagAgcctggaaaggagagggcac	9	5	14	13	2	1	2	1	0	0	2	2	4	2	3	4	4	1	2	4	4	1	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:40131320A>T	ENST00000235628.1	-	3	305	c.306T>A	c.(304-306)gcT>gcA	p.A102A		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	102					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CGGCCTCCAGAGCCTGGAAAG	0.577													T	40131320	A	T	40131320	2	4	432	1	0	0	0	0	0	0	0	1	10761	291	11	5		5	NT5C1A	1	40131320	Silent	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	4654707	40131320	209119301	3	42512											
ZCCHC11	23318	broad.mit.edu	37	chr1	52902559	52902559	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgagtatcgtggaggtctcGggggtcaagaacatctcggg	8	9	16	8	4	3	1	1	0	2	1	7	3	3	2	0	5	1	1	0	5	3	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr1:52902559G>A	ENST00000371544.3	-	26	4289	c.4027C>T	c.(4027-4029)Cga>Tga	p.R1343*	ZCCHC11_ENST00000257177.4_Nonsense_Mutation_p.R1344*	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1343					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						TGGAGGTCTCGGGGGTCAAGA	0.458													A	52902559	G	A	52902559	4	1	432	1	0	0	0	0	0	1	0	0	17681	1124	39	1	927	1	ZCCHC11	1	52902559	Nonsense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	12771239	52902559	196348062	4	42513											
TTN	7273	broad.mit.edu	37	chr2	179445326	179445326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccgcatcaagttctccCtcaggtggaactgtttaatt	10	13	8	10	1	3	0	2	0	1	0	5	1	4	1	2	2	1	3	2	2	4	4			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr2:179445326C>T	ENST00000589042.1	-	317	67004	c.66780G>A	c.(66778-66780)gaG>gaA	p.E22260E	TTN-AS1_ENST00000592750.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Silent_p.E13320E|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.E19692E|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.E20619E|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000460472.2_Silent_p.E13195E|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Silent_p.E13387E|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20619	Fibronectin type-III 61.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAAGTTCTCCCTCAGGTGGAA	0.378													T	179445326	C	T	179445326	2	4	432	1	0	0	0	0	0	0	0	1	16837	680	24	2		2	TTN	2	179445326	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		179445326	63754047	5	42514											
SH3BP5	9467	broad.mit.edu	37	chr3	15300421	15300421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaccaacaccgcatcccCgaggccccatggcactggag	10	3	10	18	2	0	0	0	0	0	0	1	2	1	1	6	3	2	3	6	3	1	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:15300421C>T	ENST00000383791.3	-	7	1026	c.806G>A	c.(805-807)cGg>cAg	p.R269Q	SH3BP5_ENST00000426925.1_Missense_Mutation_p.R112Q|SH3BP5_ENST00000408919.3_Missense_Mutation_p.R112Q|SH3BP5-AS1_ENST00000413977.1_RNA|SH3BP5-AS1_ENST00000420195.1_RNA|SH3BP5-AS1_ENST00000436602.1_RNA|SH3BP5_ENST00000253688.5_Missense_Mutation_p.R112Q	NM_004844.4	NP_004835.2	O60239	3BP5_HUMAN	SH3-domain binding protein 5 (BTK-associated)	269					intracellular signal transduction	mitochondrion	protein kinase inhibitor activity|SH3 domain binding			NS(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	12						ACCGCATCCCCGAGGCCCCAT	0.597													T	15300421	C	T	15300421	3	4	432	1	0	0	0	0	1	0	0	0	14340	652	23	1	573	1	SH3BP5	3	15300421	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		15300421	182722009	6	42515											
SLC26A6	65010	broad.mit.edu	37	chr3	48669775	48669775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcgttcaaggcctgcGgggccagggattctgtcaca	7	9	15	10	2	3	0	2	0	1	0	4	2	3	2	2	5	1	1	2	5	1	2			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:48669775G>A	ENST00000358747.6	-	4	675	c.425C>T	c.(424-426)cCg>cTg	p.P142L	SLC26A6_ENST00000395550.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000455886.2_Intron|SLC26A6_ENST00000420764.2_Missense_Mutation_p.P163L|SLC26A6_ENST00000383733.3_Missense_Mutation_p.P163L|SLC26A6_ENST00000337000.8_Intron|SLC26A6_ENST00000482282.1_5'UTR	NM_001040454.1	NP_001035544.1			solute carrier family 26 (anion exchanger), member 6										SLC26A6/PRKAR2A(2)	NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00609)		CAAGGCCTGCGGGGCCAGGGA	0.597													A	48669775	G	A	48669775	3	1	432	1	0	0	0	0	1	0	0	0	14615	1116	39	1	1895	1	SLC26A6	3	48669775	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	33369354	48669775	149352655	7	42516											
USP19	10869	broad.mit.edu	37	chr3	49152282	49152282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattcctcatcttgtgccGctgccatgcttcctcagcta	5	14	7	15	1	4	0	3	0	1	0	6	0	6	0	4	0	4	3	4	0	1	4			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:49152282G>A	ENST00000453664.1	-	15	2488	c.2170C>T	c.(2170-2172)Cgg>Tgg	p.R724W	USP19_ENST00000398898.2_Missense_Mutation_p.R673W|USP19_ENST00000398896.1_Missense_Mutation_p.R441W|USP19_ENST00000398888.2_Missense_Mutation_p.R633W|USP19_ENST00000417901.1_Missense_Mutation_p.R736W|USP19_ENST00000398892.3_Missense_Mutation_p.R673W|USP19_ENST00000434032.2_Missense_Mutation_p.R734W	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	633					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		ATCTTGTGCCGCTGCCATGCT	0.562													A	49152282	G	A	49152282	3	1	432	1	0	0	0	0	1	0	0	0	17152	1086	38	1	2111	1	USP19	3	49152282	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	482507	49152282	148870148	8	42517											
DTX3L	151636	broad.mit.edu	37	chr3	122287626	122287626	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccagaaaccaaggcagaAcaaaaaagcaactattttga	21	5	7	8	0	0	3	0	1	0	2	0	4	0	3	2	1	5	2	2	1	9	3			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr3:122287626A>G	ENST00000296161.4	+	3	879	c.690A>G	c.(688-690)gaA>gaG	p.E230E	DTX3L_ENST00000383661.3_Intron	NM_138287.3	NP_612144.1	Q8TDB6	DTX3L_HUMAN	deltex 3-like (Drosophila)	230					histone monoubiquitination|response to DNA damage stimulus	cytoplasm|nucleus	histone binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(114;0.0459)		CCAAGGCAGAACAAAAAAGCA	0.383													G	122287626	A	G	122287626	2	3	432	1	0	0	0	0	0	0	0	1	4835	40	2	3		3	DTX3L	3	122287626	Silent	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	73135344	122287626	75734804	9	42518											
EVC2	132884	broad.mit.edu	37	chr4	5696191	5696191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgggatgaagacttcCattttcttgtccaatttcat	10	15	9	7	0	2	3	1	1	1	2	4	5	4	4	2	1	0	0	2	1	2	5			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:5696191C>T	ENST00000310917.2	-	3	812	c.81G>A	c.(79-81)atG>atA	p.M27I	EVC2_ENST00000344408.5_Missense_Mutation_p.M107I|EVC2_ENST00000344938.1_Missense_Mutation_p.M107I	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	107						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TGAAGACTTCCATTTTCTTGT	0.413													T	5696191	C	T	5696191	3	4	432	1	0	0	0	0	1	0	0	0	5327	594	21	2	3685	2	EVC2	4	5696191	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		5696191	185458085	10	42519											
PPP3CA	5530	broad.mit.edu	37	chr4	101947178	101947178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctaagcccttggcttcctcGaagctagtgatcttatgttg	7	15	9	10	1	2	1	0	1	2	0	4	2	3	1	2	1	2	3	2	1	4	6			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:101947178G>A	ENST00000394854.3	-	14	2093	c.1410C>T	c.(1408-1410)ttC>ttT	p.F470F	PPP3CA_ENST00000394853.4_Silent_p.F460F|PPP3CA_ENST00000323055.6_Silent_p.F418F|PPP3CA_ENST00000507176.1_Silent_p.F372F|PPP3CA_ENST00000512215.1_Silent_p.F238F|PPP3CA_ENST00000523694.2_Silent_p.F403F	NM_000944.4	NP_000935.1	Q08209	PP2BA_HUMAN	protein phosphatase 3, catalytic subunit, alpha isozyme	470	Inhibitory domain.				protein dephosphorylation	calcineurin complex|cytosol|nucleus	calcium ion binding|calmodulin binding			breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(123;6.79e-08)		TGGCTTCCTCGAAGCTAGTGA	0.438													A	101947178	G	A	101947178	2	1	432	1	0	0	0	0	0	0	0	1	12479	1049	37	1		1	PPP3CA	4	101947178	Silent	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	96250987	101947178	89207098	11	42520											
RRH	10692	broad.mit.edu	37	chr4	110754331	110754331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcaacataatagttctggGcatcttcattaagtacaagg	14	11	8	8	0	3	0	1	0	2	0	3	0	3	0	0	2	3	4	0	2	6	6			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:110754331G>A	ENST00000317735.4	+	2	177	c.143G>A	c.(142-144)gGc>gAc	p.G48D		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	48					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		ATAGTTCTGGGCATCTTCATT	0.353													A	110754331	G	A	110754331	3	1	432	1	0	0	0	0	1	0	0	0	13771	1203	42	2	149	2	RRH	4	110754331	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	8807153	110754331	80399945	12	42521											
NAF1	92345	broad.mit.edu	37	chr4	164050411	164050411	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggccctggaaaatcctcGtgtgaattctctgttacgat	8	14	9	10	2	2	1	0	1	2	0	5	3	3	2	2	2	1	1	2	2	4	2			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr4:164050411G>A	ENST00000274054.2	-	8	1316	c.1123C>T	c.(1123-1125)Cga>Tga	p.R375*	NAF1_ENST00000422287.2_Intron|NAF1_ENST00000509434.1_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	375					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				GAAAATCCTCGTGTGAATTCT	0.448													A	164050411	G	A	164050411	4	1	432	1	0	0	0	0	0	1	0	0	10216	1153	40	1	506	1	NAF1	4	164050411	Nonsense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	53296080	164050411	27103865	13	42522											
PIK3R1	5295	broad.mit.edu	37	chr5	67591247	67591249	+	Splice_Site	DEL	GGT	GGT	-																															cttttcaaaactgtttttcaGgtggttgactcaaaaaggtg																										TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr5:67591247_67591249delGGT	ENST00000521381.1	+	14	2361_2363	c.1745_1747delGGT	c.(1744-1749)aggtgg>agg	p.W583del	PIK3R1_ENST00000274335.5_Splice_Site_p.W583del|PIK3R1_ENST00000396611.1_Splice_Site_p.W583del|PIK3R1_ENST00000523872.1_Splice_Site_p.W220del|PIK3R1_ENST00000521657.1_Splice_Site_p.W583del|PIK3R1_ENST00000320694.8_Splice_Site_p.W283del|PIK3R1_ENST00000336483.5_Splice_Site_p.W313del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	583					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACTCA	0.365			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591249	GGT	-	67591247	8	5	432	1	0	1	0	1	0	0	1	0	11995	1014	35	0	1925	0	PIK3R1	5	67591247	Splice_Site	DEL	GGT	TCGA-DU-A7TB-01A-11D-A33T-08		67591247	113324013	14	42523											
HIVEP1	3096	broad.mit.edu	37	chr6	12122606	12122606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atataatacctcctcctcatCcactaagaggaagtcagtca	14	10	5	12	0	3	1	3	0	0	1	6	2	6	2	4	1	1	0	4	1	5	4			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:12122606C>T	ENST00000379388.2	+	4	2910	c.2578C>T	c.(2578-2580)Cca>Tca	p.P860S		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	860					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TCCTCCTCATCCACTAAGAGG	0.448													T	12122606	C	T	12122606	3	4	432	1	0	0	0	0	1	0	0	0	7241	855	30	2	2588	2	HIVEP1	6	12122606	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		12122606	158992461	15	42524											
TDP2	51567	broad.mit.edu	37	chr6	24651110	24651110	+	Frame_Shift_Del	DEL	C	C	-																															atccaagaaggtccaaacttCggggaataatgtgtccctct																										TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:24651110delC	ENST00000341060.3	-	6	1216	c.821delG	c.(820-822)cgafs	p.R274fs	TDP2_ENST00000378198.4_Frame_Shift_Del_p.R332fs|TDP2_ENST00000545995.1_Frame_Shift_Del_p.R362fs			O95551	TYDP2_HUMAN	tyrosyl-DNA phosphodiesterase 2	332					cell surface receptor linked signaling pathway|double-strand break repair	PML body	5'-tyrosyl-DNA phosphodiesterase activity|magnesium ion binding|nuclease activity|protein binding|transcription corepressor activity			kidney(2)|large_intestine(1)|lung(5)|ovary(1)	9						GTCCAAACTTCGGGGAATAAT	0.383								Direct reversal of damage					-	24651110	C	-	24651110	7	5	432	1	0	1	0	1	0	0	0	0	15829	884	31	0	97	0	TDP2	6	24651110	Frame_Shift_Del	DEL	C	TCGA-DU-A7TB-01A-11D-A33T-08	12528504	24651110	146463957	16	42525											
TNXB	7148	broad.mit.edu	37	chr6	32020677	32020677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagcgagtcaggggaggatCctgtcactgtcagctccccc	7	8	12	14	1	4	0	4	0	0	0	6	3	6	2	3	3	2	1	3	3	0	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:32020677C>T	ENST00000375244.3	-	26	9086	c.8885G>A	c.(8884-8886)gGa>gAa	p.G2962E	TNXB_ENST00000375247.2_Missense_Mutation_p.G2960E			P22105	TENX_HUMAN	tenascin XB	3007	Fibronectin type-III 21.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						AGGGGAGGATCCTGTCACTGT	0.667													T	32020677	C	T	32020677	3	4	432	1	0	0	0	0	1	0	0	0	16446	855	30	2	5910	2	TNXB	6	32020677	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	7369567	32020677	139094390	17	42526											
RHAG	6005	broad.mit.edu	37	chr6	49585873	49585873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgggtggggctcgtttttcCcaggacagctccaaaagata	9	11	12	9	1	0	1	0	0	0	1	3	2	2	2	2	4	1	3	2	4	3	4			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:49585873C>T	ENST00000371175.4	-	3	426	c.400G>A	c.(400-402)Gga>Aga	p.G134R	RHAG_ENST00000229810.7_Missense_Mutation_p.G134R	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	134					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					CTCGTTTTTCCCAGGACAGCT	0.393													T	49585873	C	T	49585873	3	4	432	1	0	0	0	0	1	0	0	0	13404	632	22	2	861	2	RHAG	6	49585873	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	17565196	49585873	121529194	18	42527											
ROS1	6098	broad.mit.edu	37	chr6	117700221	117700221	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctttgagggactctacttaCctctgtccccgaagaacagc	9	10	8	14	1	2	2	0	1	2	1	3	4	3	3	4	1	4	0	4	1	4	3			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:117700221C>A	ENST00000368508.3	-	17	2796		c.e17+1		ROS1_ENST00000368507.3_Splice_Site|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase						transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ACTCTACTTACCTCTGTCCCC	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117700221	C	A	117700221	5	1	432	1	0	0	0	0	0	0	1	0	13622	521	18	4	4553	4	ROS1	6	117700221	Splice_Site	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	68114348	117700221	53414846	19	42528											
RSPO3	84870	broad.mit.edu	37	chr6	127471594	127471594	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagctgactgtgataccTgtttcaacaaaaatttctgc	13	12	7	9	0	2	2	1	2	1	0	2	2	2	2	1	0	4	3	1	0	5	3			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr6:127471594T>A	ENST00000356698.4	+	3	902	c.313T>A	c.(313-315)Tgt>Agt	p.C105S	RSPO3_ENST00000368317.3_Missense_Mutation_p.C105S|RSPO3_ENST00000485757.1_3'UTR	NM_032784.3	NP_116173.2	Q9BXY4	RSPO3_HUMAN	R-spondin 3	105						extracellular region	heparin binding		PTPRK/RSPO3(10)	breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17				GBM - Glioblastoma multiforme(226;0.0555)		CTGTGATACCTGTTTCAACAA	0.373													A	127471594	T	A	127471594	3	1	432	1	0	0	0	0	1	0	0	0	13802	1580	55	5	323	5	RSPO3	6	127471594	Missense_Mutation	SNP	T	TCGA-DU-A7TB-01A-11D-A33T-08	9771373	127471594	43643473	20	42529											
PLEKHA8	84725	broad.mit.edu	37	chr7	30113727	30113727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgcggcaacaccatggctgGgtagttcgaggggtttttgc	6	12	15	8	2	0	0	0	0	0	0	1	1	0	0	1	5	3	5	1	5	2	5			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr7:30113727G>C	ENST00000449726.1	+	13	1691	c.1341G>C	c.(1339-1341)tgG>tgC	p.W447C	PLEKHA8_ENST00000258679.7_Intron|PLEKHA8_ENST00000396257.2_Missense_Mutation_p.W447C|AC007285.7_ENST00000433088.1_RNA|PLEKHA8_ENST00000396259.1_Intron	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	447					protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						ACCATGGCTGGGTAGTTCGAG	0.408													C	30113727	G	C	30113727	3	2	432	1	0	0	0	0	1	0	0	0	12139	1247	43	4		4	PLEKHA8	7	30113727	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		30113727	129024936	21	42530											
CCDC146	57639	broad.mit.edu	37	chr7	76916122	76916122	+	Frame_Shift_Del	DEL	A	A	-																															tttttcttaatagttttcacAgtgtacagacagaattaaag																										TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr7:76916122delA	ENST00000285871.4	+	16	2283	c.2156delA	c.(2155-2157)cagfs	p.Q719fs	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Frame_Shift_Del_p.Q433fs	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	719										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TAGTTTTCACAGTGTACAGAC	0.373													-	76916122	A	-	76916122	7	5	432	1	0	1	0	1	0	0	0	0	2806	188	7	0	2214	0	CCDC146	7	76916122	Frame_Shift_Del	DEL	A	TCGA-DU-A7TB-01A-11D-A33T-08	46802395	76916122	82222541	22	42531											
BLK	640	broad.mit.edu	37	chr8	11418859	11418859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatgaattccatccaccgcGacctgcgggcggccaacatc	9	6	10	16	4	0	1	0	1	0	0	3	2	2	1	5	2	2	1	5	2	2	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr8:11418859G>A	ENST00000259089.4	+	11	1670	c.1078G>A	c.(1078-1080)Gac>Aac	p.D360N	BLK_ENST00000529894.1_Missense_Mutation_p.D289N	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	360	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CATCCACCGCGACCTGCGGGC	0.557													A	11418859	G	A	11418859	3	1	432	1	0	0	0	0	1	0	0	0	1450	1058	37	1	1116	1	BLK	8	11418859	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		11418859	134945163	23	42532											
BRD3	8019	broad.mit.edu	37	chr9	136899859	136899859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgctgctcagctgccCgctgacatcctgcagacgct	5	10	10	16	2	1	2	1	1	0	1	2	2	2	2	2	0	6	7	2	0	0	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr9:136899859C>T	ENST00000303407.7	-	11	2214	c.2029G>A	c.(2029-2031)Ggg>Agg	p.G677R	BRD3_ENST00000473349.1_5'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	677	Ser-rich.					nucleus	protein binding	p.G677R(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CTCAGCTGCCCGCTGACATCC	0.617			T	C15orf55	lethal midline carcinoma of young people								T	136899859	C	T	136899859	3	4	432	1	0	0	0	0	1	0	0	0	1512	652	23	1	159	1	BRD3	9	136899859	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		136899859	4313572	24	42533											
TMEM203	94107	broad.mit.edu	37	chr9	140099751	140099751	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagaggcccgggaccaggCcatccacacgcagtgccagc	10	2	14	15	2	0	1	0	0	0	1	1	3	1	2	5	4	2	1	5	4	0	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr9:140099751C>G	ENST00000343666.5	-	1	339	c.116G>C	c.(115-117)gGc>gCc	p.G39A	TMEM203_ENST00000537254.1_Missense_Mutation_p.G39A	NM_053045.1	NP_444273.1	Q969S6	TM203_HUMAN	transmembrane protein 203	39						integral to membrane				central_nervous_system(1)|kidney(1)	2	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGGGACCAGGCCATCCACACG	0.632													G	140099751	C	G	140099751	3	3	432	1	0	0	0	0	1	0	0	0	16228	739	26	4	298	4	TMEM203	9	140099751	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	3199892	140099751	1113680	25	42534											
ANK3	288	broad.mit.edu	37	chr10	61958141	61958141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgatccaaaaggaacGcggccacatcctcatgcccc	11	6	7	17	2	1	1	1	1	0	0	4	2	4	2	6	2	2	0	6	2	3	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr10:61958141G>A	ENST00000280772.2	-	14	1837	c.1646C>T	c.(1645-1647)gCg>gTg	p.A549V	ANK3_ENST00000503366.1_Missense_Mutation_p.A532V|ANK3_ENST00000373827.2_Missense_Mutation_p.A543V	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						CAAAAGGAACGCGGCCACATC	0.502													A	61958141	G	A	61958141	3	1	432	1	0	0	0	0	1	0	0	0	622	1087	38	1	11940	1	ANK3	10	61958141	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		61958141	73576606	26	42535											
SLC22A6	9356	broad.mit.edu	37	chr11	62744732	62744732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacagtgacagcgctggCggccacaggaacagcaccgt	11	3	15	12	3	0	1	0	1	0	0	0	4	0	3	2	4	3	2	2	4	1	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr11:62744732C>A	ENST00000377871.3	-	9	1755	c.1489G>T	c.(1489-1491)Gcc>Tcc	p.A497S	SLC22A6_ENST00000458333.2_Intron|SLC22A6_ENST00000360421.4_Missense_Mutation_p.A497S|SLC22A6_ENST00000421062.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	497					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding	p.A497T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACAGCGCTGGCGGCCACAGGA	0.642													A	62744732	C	A	62744732	3	1	432	1	0	0	0	0	1	0	0	0	14552	768	27	4	210	4	SLC22A6	11	62744732	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		62744732	72261784	27	42536											
VSIG2	23584	broad.mit.edu	37	chr11	124619648	124619648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaggaaaagttccaagaCgcacccagttgtacactggc	12	8	11	10	1	0	1	0	0	0	1	1	2	1	2	2	2	1	5	2	2	5	4	rs148389397		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr11:124619648C>T	ENST00000403470.1	-	4	597	c.542G>A	c.(541-543)cGt>cAt	p.R181H	VSIG2_ENST00000326621.5_Missense_Mutation_p.R181H			Q96IQ7	VSIG2_HUMAN	V-set and immunoglobulin domain containing 2	181	Ig-like C2-type.					integral to plasma membrane|membrane fraction				central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(5)	19	all_hematologic(175;0.215)	Breast(109;0.00663)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0215)		AGTTCCAAGACGCACCCAGTT	0.557													T	124619648	C	T	124619648	3	4	432	1	0	0	0	0	1	0	0	0	17326	536	19	1	457	1	VSIG2	11	124619648	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	61874916	124619648	10386868	28	42537											
ARID2	196528	broad.mit.edu	37	chr12	46231301	46231301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatggaaattttgggaaatCtttgcaaagcagaagataat	16	11	10	4	0	1	2	0	0	1	2	1	4	1	4	0	2	2	3	0	2	5	4			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr12:46231301C>A	ENST00000334344.6	+	10	1313	c.1141C>A	c.(1141-1143)Ctt>Att	p.L381I	ARID2_ENST00000444670.1_Missense_Mutation_p.L10I|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000422737.1_Missense_Mutation_p.L232I	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	381					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTTGGGAAATCTTTGCAAAGC	0.323			"N, S, F"		hepatocellular carcinoma								A	46231301	C	A	46231301	3	1	432	1	0	0	0	0	1	0	0	0	918	913	32	4	1179	4	ARID2	12	46231301	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		46231301	87620594	29	42538											
FLT3	2322	broad.mit.edu	37	chr13	28608473	28608473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaattagcagggttaaaaCgacaatgaagaggagacaaa	21	5	10	5	1	0	3	0	1	0	2	0	5	0	3	0	2	2	2	0	2	7	2	rs35958982	byFrequency	TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr13:28608473C>T	ENST00000380982.4	-	13	1750	c.1669G>A	c.(1669-1671)Gtt>Att	p.V557I	FLT3_ENST00000241453.7_Missense_Mutation_p.V557I|FLT3_ENST00000537084.1_Missense_Mutation_p.V557I			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	557			V -> I (in dbSNP:rs35958982).		positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity	p.V557I(1)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AGGGTTAAAACGACAATGAAG	0.393			"Mis, O"		"AML, ALL"								T	28608473	C	T	28608473	3	4	432	1	0	0	0	0	1	0	0	0	5991	536	19	1	1360	1	FLT3	13	28608473	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		28608473	86561405	30	42539											
FRY	10129	broad.mit.edu	37	chr13	32605977	32605977	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgagatcagtatcaaAtatttactgaaatcctggag	13	15	7	6	0	3	2	2	2	1	1	4	4	4	3	1	1	1	1	1	1	5	6			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr13:32605977A>G	ENST00000380250.3	+	1	541	c.45A>G	c.(43-45)aaA>aaG	p.K15K	FRY_ENST00000463566.1_3'UTR	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	15					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		TCAGTATCAAATATTTACTGA	0.468													G	32605977	A	G	32605977	2	3	432	1	0	0	0	0	0	0	0	1	6115	98	4	3		3	FRY	13	32605977	Silent	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	3997504	32605977	82563901	31	42540											
ADAM21	8747	broad.mit.edu	37	chr14	70924377	70924377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatcagcaggggcagaaGtgcaaaggctcctggatggc	10	6	17	8	0	1	2	1	1	0	1	2	3	2	3	1	6	2	4	1	6	2	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr14:70924377G>T	ENST00000603540.1	+	2	419	c.161G>T	c.(160-162)aGt>aTt	p.S54I	ADAM21_ENST00000267499.3_Missense_Mutation_p.S54I|RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003813.3	NP_003804.2	Q9UKJ8	ADA21_HUMAN	ADAM metallopeptidase domain 21	54					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	31				all cancers(60;0.00326)|BRCA - Breast invasive adenocarcinoma(234;0.00646)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		AGGGGCAGAAGTGCAAAGGCT	0.522													T	70924377	G	T	70924377	3	4	432	1	0	0	0	0	1	0	0	0	243	1029	36	4	163	4	ADAM21	14	70924377	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		70924377	36425163	32	42541											
OR4M2	390538	broad.mit.edu	37	chr15	22368774	22368774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcctgttggctaatctgGccttccttgatatttggtac	6	18	8	9	0	1	1	0	1	1	0	3	1	3	1	3	3	1	3	3	3	3	8			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:22368774G>T	ENST00000332663.2	+	1	297	c.199G>T	c.(199-201)Gcc>Tcc	p.A67S	RP11-69H14.6_ENST00000558896.1_RNA	NM_001004719.2	NP_001004719.2	Q8NGB6	OR4M2_HUMAN	olfactory receptor, family 4, subfamily M, member 2	67					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(38)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	63		all_cancers(20;1.94e-20)|all_epithelial(15;3.94e-18)|Lung NSC(15;8.53e-15)|all_lung(15;2.87e-14)|Breast(32;0.00519)|Colorectal(260;0.101)	GBM - Glioblastoma multiforme(6;0.124)	all cancers(64;1.64e-11)|Epithelial(43;5.81e-10)|BRCA - Breast invasive adenocarcinoma(123;0.000255)|Kidney(6;0.00736)|KIRC - Kidney renal clear cell carcinoma(6;0.0135)|GBM - Glioblastoma multiforme(186;0.0963)		GGCTAATCTGGCCTTCCTTGA	0.408													T	22368774	G	T	22368774	3	4	432	1	0	0	0	0	1	0	0	0	11152	1203	42	4	201	4	OR4M2	15	22368774	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		22368774	80162618	33	42542											
DISP2	85455	broad.mit.edu	37	chr15	40661876	40661876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccagcaagctgtcccaccGgccctcagtactctctgagg	8	7	9	17	1	2	1	1	1	1	0	4	1	3	1	4	2	3	3	4	2	2	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:40661876G>A	ENST00000267889.3	+	8	3650	c.3563G>A	c.(3562-3564)cGg>cAg	p.R1188Q		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1188					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CTGTCCCACCGGCCCTCAGTA	0.652													A	40661876	G	A	40661876	3	1	432	1	0	0	0	0	1	0	0	0	4579	1116	39	1	3593	1	DISP2	15	40661876	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	18293102	40661876	61869516	34	42543											
FBN1	2200	broad.mit.edu	37	chr15	48764802	48764802	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccatgtcgcattcacagcGgtatcctcctggtgcattga	7	11	10	13	2	1	1	1	1	0	0	4	1	3	1	3	2	2	3	3	2	1	3			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:48764802G>A	ENST00000316623.5	-	35	4737	c.4282C>T	c.(4282-4284)Cgc>Tgc	p.R1428C		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1428	EGF-like 24; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CATTCACAGCGGTATCCTCCT	0.542													A	48764802	G	A	48764802	3	1	432	1	0	0	0	0	1	0	0	0	5751	1116	39	1	4461	1	FBN1	15	48764802	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08	8102926	48764802	53766590	35	42544											
GLDN	342035	broad.mit.edu	37	chr15	51689743	51689743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctccagggccccctggaagCagaagagccaaaggccctcg	10	3	12	16	1	0	2	0	0	0	2	2	3	1	3	6	3	2	1	6	3	3	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:51689743C>T	ENST00000335449.6	+	6	821	c.765C>T	c.(763-765)agC>agT	p.S255S	GLDN_ENST00000396399.2_Silent_p.S131S	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	255	Pro-rich.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		CCCCTGGAAGCAGAAGAGCCA	0.637													T	51689743	C	T	51689743	2	4	432	1	0	0	0	0	0	0	0	1	6490	709	25	2		2	GLDN	15	51689743	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	2924941	51689743	50841649	36	42545											
SYNM	23336	broad.mit.edu	37	chr15	99669671	99669671	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcacctttggcaagtttcaAtcacagctcggcactgtatt	10	12	8	11	1	2	0	2	0	0	0	3	0	2	0	1	2	2	6	1	2	3	4			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr15:99669671A>G	ENST00000336292.6	+	5	1223	c.1103A>G	c.(1102-1104)aAt>aGt	p.N368S	SYNM_ENST00000328642.7_Missense_Mutation_p.N368S|SYNM_ENST00000560674.1_Missense_Mutation_p.N83S|SYNM_ENST00000561323.1_3'UTR|RP11-6O2.4_ENST00000566974.1_RNA	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	369	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						GCAAGTTTCAATCACAGCTCG	0.468													G	99669671	A	G	99669671	3	3	432	1	0	0	0	0	1	0	0	0	15552	101	4	3	1119	3	SYNM	15	99669671	Missense_Mutation	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	47979928	99669671	2861721	37	42546											
SLC38A8	146167	broad.mit.edu	37	chr16	84050239	84050239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgacccacaggatggtcagCggcatccggacccacagccc	9	4	12	16	2	1	1	1	1	0	0	2	3	2	3	4	4	2	1	4	4	0	0			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr16:84050239C>T	ENST00000299709.3	-	8	1046	c.1047G>A	c.(1045-1047)ccG>ccA	p.P349P		NM_001080442.1	NP_001073911.1	A6NNN8	S38A8_HUMAN	solute carrier family 38, member 8	349					amino acid transport|sodium ion transport	integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						GGATGGTCAGCGGCATCCGGA	0.637													T	84050239	C	T	84050239	2	4	432	1	0	0	0	0	0	0	0	1	14704	755	27	1		1	SLC38A8	16	84050239	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		84050239	6304514	38	42547											
THRA	7067	broad.mit.edu	37	chr17	38245687	38245690	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ccccccactcttcctcgaggTctttgaggatcaggaagtct																										TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr17:38245687_38245690delTCTT	ENST00000450525.2	+	9	1702_1705	c.1211_1214delTCTT	c.(1210-1215)gtctttfs	p.VF404fs	THRA_ENST00000546243.1_Frame_Shift_Del_p.VF404fs|THRA_ENST00000584985.1_Intron|THRA_ENST00000394121.4_Intron|THRA_ENST00000264637.4_Intron	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	0					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCCTCGAGGTCTTTGAGGATCAG	0.637													-	38245690	TCTT	-	38245687	7	5	432	1	0	1	0	1	0	0	0	0	15973	1667	58	0	1241	0	THRA	17	38245687	Frame_Shift_Del	DEL	TCTT	TCGA-DU-A7TB-01A-11D-A33T-08		38245687	42949523	39	42548											
SLC25A10	1468	broad.mit.edu	37	chr17	79682550	79682550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgccatctacgagactgtgCgggaccgtgtggccaagggc	7	7	15	12	4	1	1	0	0	1	1	2	3	1	2	3	3	2	0	3	3	2	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr17:79682550C>T	ENST00000331531.5	+	3	376	c.256C>T	c.(256-258)Cgg>Tgg	p.R86W	SLC25A10_ENST00000541223.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000571730.1_Missense_Mutation_p.R241W|SLC25A10_ENST00000545862.1_Missense_Mutation_p.R43W|SLC25A10_ENST00000350690.5_Missense_Mutation_p.R86W	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	86					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CGAGACTGTGCGGGACCGTGT	0.697													T	79682550	C	T	79682550	3	4	432	1	0	0	0	0	1	0	0	0	14566	759	27	1	266	1	SLC25A10	17	79682550	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08	41436863	79682550	1512660	40	42549											
CNOT3	4849	broad.mit.edu	37	chr19	54646885	54646885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcgctgcctcaagaaggtgtCcgagggcgtggagcagtttg	7	9	16	9	3	1	1	1	0	0	1	3	3	2	2	2	3	2	3	2	3	2	1			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr19:54646885C>T	ENST00000406403.1	+	2	1659	c.56C>T	c.(55-57)tCc>tTc	p.S19F	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.S19F			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	19					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGAAGGTGTCCGAGGGCGTG	0.547													T	54646885	C	T	54646885	3	4	432	1	0	0	0	0	1	0	0	0	3651	855	30	2	62	2	CNOT3	19	54646885	Missense_Mutation	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		54646885	4482098	41	42550											
BACE2	25825	broad.mit.edu	37	chr21	42613772	42613772	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agttctctggagaccttcttCgactccctggtgacacaagc	8	11	9	13	1	2	2	0	1	2	1	5	4	3	2	2	2	1	1	2	2	1	3			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr21:42613772C>T	ENST00000347667.5	+	4	1108	c.645C>T	c.(643-645)ttC>ttT	p.F215F	BACE2_ENST00000328735.6_Silent_p.F215F|BACE2_ENST00000330333.6_Silent_p.F215F|BACE2_ENST00000466122.1_3'UTR	NM_138991.1	NP_620476.1	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis|negative regulation of amyloid precursor protein biosynthetic process|peptide hormone processing	cell surface|endoplasmic reticulum|endosome|Golgi apparatus|integral to membrane	aspartic-type endopeptidase activity			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				AGACCTTCTTCGACTCCCTGG	0.582													T	42613772	C	T	42613772	2	4	432	1	0	0	0	0	0	0	0	1	1287	883	31	1		1	BACE2	21	42613772	Silent	SNP	C	TCGA-DU-A7TB-01A-11D-A33T-08		42613772	5516123	42	42551											
AIFM3	150209	broad.mit.edu	37	chr22	21330015	21330015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgagcagctggccctgaGgcccaaggagtttttccgag	7	8	14	12	1	0	2	0	2	0	0	1	4	1	3	4	3	2	3	4	3	1	2			TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr22:21330015G>A	ENST00000399167.2	+	9	995	c.755G>A	c.(754-756)aGg>aAg	p.R252K	AIFM3_ENST00000399163.2_Missense_Mutation_p.R252K|AIFM3_ENST00000440238.2_Missense_Mutation_p.R252K|AIFM3_ENST00000405089.1_Missense_Mutation_p.R258K|AIFM3_ENST00000333607.6_Missense_Mutation_p.R252K|AIFM3_ENST00000465606.1_3'UTR|AIFM3_ENST00000335375.5_Missense_Mutation_p.R240K	NM_144704.2	NP_653305.1			apoptosis-inducing factor, mitochondrion-associated, 3											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	21	all_cancers(11;3.71e-26)|all_epithelial(7;1.59e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0367)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CTGGCCCTGAGGCCCAAGGAG	0.617													A	21330015	G	A	21330015	3	1	432	1	0	0	0	0	1	0	0	0	428	1000	35	2	803	2	AIFM3	22	21330015	Missense_Mutation	SNP	G	TCGA-DU-A7TB-01A-11D-A33T-08		21330015	29974551	43	42552											
SCO2	9997	broad.mit.edu	37	chr22	50962164	50962164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttgagcaggtagatggcaAtggagtggtccacgatgtag	10	9	17	5	1	0	2	0	1	0	1	1	4	1	3	1	5	1	5	1	5	3	3	rs150742660		TCGA-DU-A7TB-01A-11D-A33T-08	TCGA-DU-A7TB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7095551c-6180-4cf2-a64a-a51c721f3cd7	97caf281-250f-404a-b54f-adf3225062c4	g.chr22:50962164A>G	ENST00000543927.1	-	2	883	c.677T>C	c.(676-678)aTt>aCt	p.I226T	SCO2_ENST00000535425.1_Missense_Mutation_p.I226T|SCO2_ENST00000395693.3_Missense_Mutation_p.I226T|SCO2_ENST00000252785.3_Missense_Mutation_p.I226T	NM_001169109.1	NP_001162580.1	O43819	SCO2_HUMAN	SCO2 cytochrome c oxidase assembly protein	226	Thioredoxin.				cell redox homeostasis|cellular copper ion homeostasis|copper ion transport|oxidation-reduction process|respiratory chain complex IV assembly	mitochondrial inner membrane	copper ion binding			endometrium(1)|lung(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTAGATGGCAATGGAGTGGTC	0.587													G	50962164	A	G	50962164	3	3	432	1	0	0	0	0	1	0	0	0	14025	101	4	3	127	3	SCO2	22	50962164	Missense_Mutation	SNP	A	TCGA-DU-A7TB-01A-11D-A33T-08	29632149	50962164	342402	44	42553											
SETDB1	9869	broad.mit.edu	37	chr1	150934619	150934619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccaggacactgacgaccGaaacaagatgtcagtgtaag	14	8	10	9	2	1	2	1	1	0	1	2	5	2	3	2	1	1	1	2	1	3	2	rs148408413		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr1:150934619G>A	ENST00000271640.5	+	17	3333	c.3143G>A	c.(3142-3144)cGa>cAa	p.R1048Q	SETDB1_ENST00000368969.4_Missense_Mutation_p.R1048Q	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	1048	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACTGACGACCGAAACAAGATG	0.443													A	150934619	G	A	150934619	3	1	433	1	0	0	0	0	1	0	0	0	14231	1058	37	1	3205	1	SETDB1	1	150934619	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		150934619	98316002	1	42554											
OBSCN	84033	broad.mit.edu	37	chr1	228476440	228476440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggagtggaggaaggggcGtgagagcctcagagatgggg	9	5	22	5	2	1	2	1	1	0	2	1	7	1	5	1	7	1	0	1	7	1	0			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr1:228476440G>A	ENST00000570156.2	+	43	11551	c.11477G>A	c.(11476-11478)cGt>cAt	p.R3826H	OBSCN_ENST00000359599.6_Missense_Mutation_p.R2244H|OBSCN_ENST00000366709.4_Missense_Mutation_p.R516H|OBSCN_ENST00000366707.4_Missense_Mutation_p.R516H|OBSCN_ENST00000284548.11_Missense_Mutation_p.R3397H|OBSCN_ENST00000422127.1_Missense_Mutation_p.R3397H	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2863	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGAAGGGGCGTGAGAGCCTC	0.622													A	228476440	G	A	228476440	3	1	433	1	0	0	0	0	1	0	0	0	10888	1145	40	1	10336	1	OBSCN	1	228476440	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	77541821	228476440	20774181	2	42555											
TFCP2L1	29842	broad.mit.edu	37	chr2	122004453	122004453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccgtgtactccccattctCgttctgcttaaacgtgtcaa	7	14	6	14	3	3	0	1	0	2	0	6	0	5	0	3	0	3	3	3	0	4	4			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:122004453C>T	ENST00000263707.5	-	6	695	c.598G>A	c.(598-600)Gag>Aag	p.E200K		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	200					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	p.E200K(1)		cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TCCCCATTCTCGTTCTGCTTA	0.587													T	122004453	C	T	122004453	3	4	433	1	0	0	0	0	1	0	0	0	15896	893	31	1	881	1	TFCP2L1	2	122004453	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		122004453	121194920	3	42556											
R3HDM1	23518	broad.mit.edu	37	chr2	136389573	136389573	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactagcaatacaagaatgTaagtgtcaagagatgtaact	19	9	8	5	0	1	2	1	0	0	2	1	3	1	2	0	0	4	3	0	0	9	4			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:136389573T>A	ENST00000264160.4	+	9	1068		c.e9+2		R3HDM1_ENST00000329971.3_Splice_Site|R3HDM1_ENST00000409606.1_Splice_Site|R3HDM1_ENST00000410054.1_Splice_Site|R3HDM1_ENST00000409478.1_Splice_Site	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1								nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		TACAAGAATGTAAGTGTCAAG	0.323													A	136389573	T	A	136389573	5	1	433	1	0	0	0	0	0	0	1	0	12975	1652	57	5	726	5	R3HDM1	2	136389573	Splice_Site	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08	14385120	136389573	106809800	4	42557											
TTN	7273	broad.mit.edu	37	chr2	179426430	179426430	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactctgcaacaacagctgaAgattcactgtaggagctctt	12	11	8	10	0	3	2	1	1	2	1	3	3	3	3	0	1	6	4	0	1	5	4			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:179426430A>T	ENST00000589042.1	-	326	84653	c.84429T>A	c.(84427-84429)tcT>tcA	p.S28143S	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.S19270S|TTN_ENST00000591111.1_Silent_p.S26502S|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.S25575S|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.S19203S|TTN_ENST00000460472.2_Silent_p.S19078S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	26502	Fibronectin type-III 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAACAGCTGAAGATTCACTGT	0.458													T	179426430	A	T	179426430	2	4	433	1	0	0	0	0	0	0	0	1	16837	59	3	5		5	TTN	2	179426430	Silent	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	43036857	179426430	63772943	5	42558											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	433	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	29686682	209113112	34086261	6	42559											
COL7A1	1294	broad.mit.edu	37	chr3	48621040	48621040	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctggagctccatcctcAgagtcaccctgaaggagaaa	12	6	11	12	0	2	3	2	1	0	2	4	5	4	4	4	3	1	1	4	3	2	0			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:48621040A>G	ENST00000328333.8	-	40	4457	c.4350T>C	c.(4348-4350)tcT>tcC	p.S1450S	COL7A1_ENST00000454817.1_Silent_p.S1450S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1450	Interrupted collagenous region.|Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTCCATCCTCAGAGTCACCCT	0.627													G	48621040	A	G	48621040	2	3	433	1	0	0	0	0	0	0	0	1	3735	175	7	3		3	COL7A1	3	48621040	Silent	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08		48621040	149401390	7	42560											
ARHGAP31	57514	broad.mit.edu	37	chr3	119112379	119112379	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggacgttctggatcagActccaaatcaaaactgagta	13	9	9	10	1	3	2	2	1	1	1	4	4	4	4	2	2	1	2	2	2	4	2			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:119112379A>G	ENST00000264245.4	+	8	1479	c.947A>G	c.(946-948)gAc>gGc	p.D316G		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	316					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						TCTGGATCAGACTCCAAATCA	0.383													G	119112379	A	G	119112379	3	3	433	1	0	0	0	0	1	0	0	0	883	275	10	3	977	3	ARHGAP31	3	119112379	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	70491339	119112379	78910051	8	42561											
PAK2	5062	broad.mit.edu	37	chr3	196547347	196547347	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtggttacacggaaagcttAtggccctaaagtcgacatat	12	10	11	8	2	0	0	0	0	0	0	1	2	0	1	1	4	2	2	1	4	6	4			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr3:196547347A>G	ENST00000327134.3	+	13	1581	c.1259A>G	c.(1258-1260)tAt>tGt	p.Y420C		NM_002577.4	NP_002568.2	Q13177	PAK2_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 2	420	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of apoptosis|regulation of defense response to virus by virus|regulation of growth|T cell costimulation|T cell receptor signaling pathway|viral reproduction	cytosol|nucleus|perinuclear region of cytoplasm|plasma membrane	ATP binding|identical protein binding|protein kinase binding|protein serine/threonine kinase activity|protein tyrosine kinase activator activity			breast(1)|cervix(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	12	all_cancers(143;1.8e-08)|Ovarian(172;0.0634)|Breast(254;0.135)		Epithelial(36;1.07e-23)|all cancers(36;6.38e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.5e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00405)		CGGAAAGCTTATGGCCCTAAA	0.498													G	196547347	A	G	196547347	3	3	433	1	0	0	0	0	1	0	0	0	11477	449	16	3	1305	3	PAK2	3	196547347	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	77434968	196547347	1475083	9	42562											
KIT	3815	broad.mit.edu	37	chr4	55593619	55593619	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggaaggttgttgaggAgataaatggaaacaattatg	16	10	13	2	0	0	2	0	1	0	1	0	5	0	4	0	4	1	2	0	4	6	4	rs121913510		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr4:55593619A>G	ENST00000288135.5	+	11	1782	c.1685A>G	c.(1684-1686)gAg>gGg	p.E562G		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	562					male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.K558_E562del(10)|p.V560_L576del(4)|p.Y553_T574>S(3)|p.V559_G565del(3)|p.V555_I571del(3)|p.V555_P573del(3)|p.Q556_L576del(2)|p.W557_P573>S(2)|p.K558_N564del(2)|p.W557_Q575del(2)|p.V555_E562del(2)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.V555_I563del(1)|p.E561_P577del(1)|p.E562_P573del(1)|p.K558_G565del(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.V555_Y570del(1)|p.V559_E562del(1)|p.M552_T574>TESA(1)|p.K558_G565>R(1)|p.V559_I571del(1)|p.Q556_D572>PS(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V559_N564del(1)|p.E562V(1)|p.Q556_D572del(1)|p.K558_L576>NV(1)|p.V559_P573>A(1)|p.V560_I571del(1)|p.W557_I571del(1)|p.V559_L576del(1)|p.E554_N564del(1)|p.K558_D572del(1)|p.Q556_D572>H(1)|p.K558_Y570>N(1)|p.M552_D572del(1)|p.Q556_T574del(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.E554_E562del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTTGTTGAGGAGATAAATGGA	0.378		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G	55593619	A	G	55593619	3	3	433	1	0	0	0	0	1	0	0	0	8387	304	11	3	1727	3	KIT	4	55593619	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08		55593619	135560657	10	42563											
F2R	2149	broad.mit.edu	37	chr5	76028379	76028379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgtcccatctgtgtacaCcggagtgtttgtagtcagcc	6	14	10	11	1	2	0	1	0	1	0	3	1	3	1	3	1	2	3	3	1	2	4			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr5:76028379C>A	ENST00000319211.4	+	2	594	c.329C>A	c.(328-330)aCc>aAc	p.T110N		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	110					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	TCTGTGTACACCGGAGTGTTT	0.493													A	76028379	C	A	76028379	3	1	433	1	0	0	0	0	1	0	0	0	5385	507	18	4	335	4	F2R	5	76028379	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		76028379	104886881	11	42564											
DHX16	8449	broad.mit.edu	37	chr6	30624869	30624869	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatgttcgttgccacaaccaCctgagtgataggatatgggg	11	10	12	8	1	0	2	0	2	0	0	1	3	0	3	3	3	2	2	3	3	4	4			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:30624869C>A	ENST00000376442.3	-	13	2203	c.2008G>T	c.(2008-2010)Gtg>Ttg	p.V670L	DHX16_ENST00000376437.5_Splice_Site_p.V189L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	670	Helicase C-terminal.				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GCCACAACCACCTGAGTGATA	0.483													A	30624869	C	A	30624869	5	1	433	1	0	0	0	0	0	0	1	0	4541	521	18	4	1149	4	DHX16	6	30624869	Splice_Site	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		30624869	140490198	12	42565											
PTK7	5754	broad.mit.edu	37	chr6	43128465	43128465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcttccctacagatttgcAggctgggaaggctagacttc	8	12	11	10	0	1	2	0	0	1	2	3	3	2	3	1	3	2	3	1	3	3	5			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:43128465A>G	ENST00000230419.4	+	20	3280	c.3059A>G	c.(3058-3060)cAg>cGg	p.Q1020R	PTK7_ENST00000349241.2_Missense_Mutation_p.Q890R|PTK7_ENST00000352931.2_Missense_Mutation_p.Q964R|PTK7_ENST00000345201.2_Missense_Mutation_p.Q980R|PTK7_ENST00000481273.1_Missense_Mutation_p.Q1028R	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	1020	Interaction with CTNNB1.|Protein kinase; inactive.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			ACAGATTTGCAGGCTGGGAAG	0.562													G	43128465	A	G	43128465	3	3	433	1	0	0	0	0	1	0	0	0	12851	188	7	3	3137	3	PTK7	6	43128465	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08	12503596	43128465	127986602	13	42566											
SYNE1	23345	broad.mit.edu	37	chr6	152621853	152621853	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaggaaatctcactgttggTtccctcctccccagactcct	8	11	7	15	0	1	2	1	0	1	2	6	3	5	3	5	2	0	2	5	2	1	2			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:152621853T>C	ENST00000367255.5	-	93	18206	c.17605A>G	c.(17605-17607)Acc>Gcc	p.T5869A	SYNE1_ENST00000448038.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000423061.1_Missense_Mutation_p.T5798A|SYNE1_ENST00000356820.4_Missense_Mutation_p.T393A|SYNE1_ENST00000265368.4_Missense_Mutation_p.T5869A|SYNE1_ENST00000341594.5_Missense_Mutation_p.T5481A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5869					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)		TCACTGTTGGTTCCCTCCTCC	0.527										HNSCC(10;0.0054)			C	152621853	T	C	152621853	3	2	433	1	0	0	0	0	1	0	0	0	15542	1725	60	3	9077	3	SYNE1	6	152621853	Missense_Mutation	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08	109493388	152621853	18493214	14	42567											
SMOC2	64094	broad.mit.edu	37	chr6	169053869	169053869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgatgggctgcctgggcgtgGcgaaagaggacggcaaagcg	9	5	19	8	4	0	2	0	1	0	1	0	4	0	3	1	5	2	2	1	5	2	0			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr6:169053869G>A	ENST00000354536.5	+	11	1499	c.1279G>A	c.(1279-1281)Gcg>Acg	p.A427T	SMOC2_ENST00000356284.2_Missense_Mutation_p.A416T	NM_022138.2	NP_071421.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	416					signal transduction	basement membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CCTGGGCGTGGCGAAAGAGGA	0.532													A	169053869	G	A	169053869	3	1	433	1	0	0	0	0	1	0	0	0	14896	1203	42	2	1321	2	SMOC2	6	169053869	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	16432016	169053869	2061198	15	42568											
TRRAP	8295	broad.mit.edu	37	chr7	98575905	98575905	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagtaacgcctcccctgcTattttccctgaataccagct	9	11	7	14	1	0	1	0	1	0	0	2	2	2	2	5	1	4	3	5	1	4	5			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr7:98575905T>A	ENST00000359863.4	+	56	8645	c.8436T>A	c.(8434-8436)gcT>gcA	p.A2812A	TRRAP_ENST00000446306.3_Silent_p.A2794A|TRRAP_ENST00000355540.3_Silent_p.A2794A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2812	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCTCCCCTGCTATTTTCCCTG	0.413													A	98575905	T	A	98575905	2	1	433	1	0	0	0	0	0	0	0	1	16702	1509	53	5		5	TRRAP	7	98575905	Silent	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08		98575905	60562758	16	42569											
SRRT	51593	broad.mit.edu	37	chr7	100484040	100484040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcctcagaaccagggaCgcctcccctgcccacggtca	7	6	11	17	2	2	1	2	0	0	1	3	2	3	2	6	3	2	0	6	3	1	1			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr7:100484040C>T	ENST00000388793.4	+	13	1848	c.1628C>T	c.(1627-1629)aCg>aTg	p.T543M	SRRT_ENST00000347433.4_Missense_Mutation_p.T544M|SRRT_ENST00000457580.2_Missense_Mutation_p.T544M|SRRT_ENST00000432932.1_Missense_Mutation_p.T543M	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	544					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	p.T544M(1)		breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAACCAGGGACGCCTCCCCTG	0.582													T	100484040	C	T	100484040	3	4	433	1	0	0	0	0	1	0	0	0	15268	536	19	1	1677	1	SRRT	7	100484040	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	1908135	100484040	58654623	17	42570											
ADAM32	203102	broad.mit.edu	37	chr8	39131835	39131835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatttttttttagatccAgctcagaaggcagcactcag	11	14	7	9	0	3	2	3	0	0	2	4	2	4	2	1	1	2	3	1	1	3	6			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr8:39131835A>G	ENST00000379907.4	+	21	2333	c.2206A>G	c.(2206-2208)Agc>Ggc	p.S736G	ADAM32_ENST00000524303.1_3'UTR|ADAM32_ENST00000519315.1_Intron|ADAM32_ENST00000437682.2_Missense_Mutation_p.S637G	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	736					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			TTTTAGATCCAGCTCAGAAGG	0.313													G	39131835	A	G	39131835	3	3	433	1	0	0	0	0	1	0	0	0	249	188	7	3	2288	3	ADAM32	8	39131835	Missense_Mutation	SNP	A	TCGA-DU-A7TC-01A-21D-A34J-08		39131835	107232187	18	42571											
PTGES	9536	broad.mit.edu	37	chr9	132501992	132501992	+	Frame_Shift_Del	DEL	C	C	-																															cggatgggtgcccgcagcttCcccaggtaggccacggtgtg																										TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr9:132501992delC	ENST00000340607.4	-	3	391	c.357delG	c.(355-357)gggfs	p.G119fs	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	119					prostaglandin biosynthetic process|signal transduction	integral to membrane|membrane fraction	glutathione binding|prostaglandin-E synthase activity			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CCCGCAGCTTCCCCAGGTAGG	0.647													-	132501992	C	-	132501992	7	5	433	1	0	1	0	1	0	0	0	0	12832	842	30	0	105	0	PTGES	9	132501992	Frame_Shift_Del	DEL	C	TCGA-DU-A7TC-01A-21D-A34J-08		132501992	8711439	19	42572											
TRDMT1	1787	broad.mit.edu	37	chr10	17204166	17204166	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggaacctaagtttttaccTtgggagaatatctagaatat	14	13	8	6	0	1	2	0	0	1	2	1	4	1	3	2	2	2	1	2	2	8	8			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr10:17204166T>A	ENST00000377799.3	-	4	369	c.322A>T	c.(322-324)Aga>Tga	p.R108*	TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000377766.5_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000457442.2_Splice_Site_p.R49*	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	108					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						AGTTTTTACCTTGGGAGAATA	0.368													A	17204166	T	A	17204166	5	1	433	1	0	0	0	0	0	0	1	0	16568	1623	56	5	885	5	TRDMT1	10	17204166	Splice_Site	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08		17204166	118330581	20	42573											
OR5T1	390155	broad.mit.edu	37	chr11	56043515	56043515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgcaatggcttatgatcGctatgtagccatctacaacc	10	11	9	11	1	1	1	0	1	1	0	2	1	1	1	2	2	4	5	2	2	6	4	rs140678740		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr11:56043515G>A	ENST00000313033.2	+	1	487	c.401G>A	c.(400-402)cGc>cAc	p.R134H		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					GCTTATGATCGCTATGTAGCC	0.413													A	56043515	G	A	56043515	3	1	433	1	0	0	0	0	1	0	0	0	11257	1087	38	1	403	1	OR5T1	11	56043515	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		56043515	78963001	21	42574											
ANGPTL5	253935	broad.mit.edu	37	chr11	101762018	101762020	+	In_Frame_Del	DEL	AAT	AAT	-																															tgttaaatgagattatttaaAatatggattgtacattcttc																								rs143415747	byFrequency	TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr11:101762018_101762020delAAT	ENST00000334289.3	-	9	1752_1754	c.1157_1159delATT	c.(1156-1161)tatttt>ttt	p.Y386del		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	386					signal transduction	extracellular space	receptor binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GATTATTTAAAATATGGATTGTA	0.276													-	101762020	AAT	-	101762018	7	5	433	1	0	1	0	1	0	0	0	0	617	14	1	0	11	0	ANGPTL5	11	101762018	In_Frame_Del	DEL	AAT	TCGA-DU-A7TC-01A-21D-A34J-08	45718503	101762018	33244498	22	42575											
ACRBP	84519	broad.mit.edu	37	chr12	6749667	6749667	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacaggtagacatgtgtcGccgcccaaggctgtcacaga	10	6	13	12	2	1	2	1	0	0	2	2	2	1	2	2	3	0	3	2	3	2	1			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:6749667G>A	ENST00000229243.2	-	7	1192	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	ACRBP_ENST00000542357.1_5'UTR|ACRBP_ENST00000414226.2_Nonsense_Mutation_p.R334*	NM_032489.2	NP_115878.2	Q8NEB7	ACRBP_HUMAN	acrosin binding protein	367						acrosomal vesicle|extracellular region				NS(1)|breast(1)|central_nervous_system(1)|large_intestine(8)|lung(5)|ovary(1)	17						GACATGTGTCGCCGCCCAAGG	0.632													A	6749667	G	A	6749667	4	1	433	1	0	0	0	0	0	1	0	0	170	1095	38	1	548	1	ACRBP	12	6749667	Nonsense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		6749667	127102228	23	42576											
LRP6	4040	broad.mit.edu	37	chr12	12291284	12291284	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaaggttcagctccttTactgcatgaatgtcactaag	10	14	8	9	0	3	2	2	2	1	0	4	2	4	2	1	1	3	3	1	1	4	5			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:12291284T>C	ENST00000261349.4	-	16	3658	c.3582A>G	c.(3580-3582)gtA>gtG	p.V1194V	LRP6_ENST00000543091.1_Silent_p.V1194V|BCL2L14_ENST00000396369.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1194	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TCAGCTCCTTTACTGCATGAA	0.358													C	12291284	T	C	12291284	2	2	433	1	0	0	0	0	0	0	0	1	9032	1741	61	3		3	LRP6	12	12291284	Silent	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08	5541617	12291284	121560611	24	42577											
KRT2	3849	broad.mit.edu	37	chr12	53045435	53045435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctctgggtcaactttcacGttgagaggctgcaggaggct	8	11	13	9	1	3	1	2	1	1	1	4	3	3	2	0	4	2	4	0	4	1	2			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:53045435G>A	ENST00000309680.3	-	1	513	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	164	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		CAACTTTCACGTTGAGAGGCT	0.527													A	53045435	G	A	53045435	2	1	433	1	0	0	0	0	0	0	0	1	8515	1136	40	1		1	KRT2	12	53045435	Silent	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	40754151	53045435	80806460	25	42578											
BTBD11	121551	broad.mit.edu	37	chr12	108004005	108004005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcatctcgaaagctggatgCggtggccatcgaagccaagt	10	8	13	10	3	1	0	0	0	1	0	3	3	1	1	2	3	4	2	2	3	3	0			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:108004005C>T	ENST00000280758.5	+	5	2210	c.1682C>T	c.(1681-1683)gCg>gTg	p.A561V	BTBD11_ENST00000420571.2_Missense_Mutation_p.A561V|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000357167.4_Missense_Mutation_p.A98V|BTBD11_ENST00000490090.2_Missense_Mutation_p.A561V	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	561						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCTGGATGCGGTGGCCATC	0.582											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	108004005	C	T	108004005	3	4	433	1	0	0	0	0	1	0	0	0	1548	768	27	1	1805	1	BTBD11	12	108004005	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	54958570	108004005	25847890	26	42579											
RBM19	9904	broad.mit.edu	37	chr12	114400045	114400045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccactcactgtgatccGggatgtgtcgatgaagctct	7	11	11	12	2	2	2	1	2	1	0	4	4	3	3	2	1	2	1	2	1	1	0			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr12:114400045G>A	ENST00000545145.2	-	2	289	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	RBM19_ENST00000261741.5_Missense_Mutation_p.R71W|RBM19_ENST00000392561.3_Missense_Mutation_p.R71W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	71	RRM 1.				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					ACTGTGATCCGGGATGTGTCG	0.493													A	114400045	G	A	114400045	3	1	433	1	0	0	0	0	1	0	0	0	13209	1115	39	1	2763	1	RBM19	12	114400045	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08	6396040	114400045	19451850	27	42580											
NBEA	26960	broad.mit.edu	37	chr13	35683539	35683539	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcagctttgtgatcacaTtttatttaacccagccatct	11	14	6	10	0	2	1	1	1	1	0	2	2	2	1	2	0	4	2	2	0	3	5			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr13:35683539T>G	ENST00000400445.3	+	12	2327	c.1793T>G	c.(1792-1794)aTt>aGt	p.I598S	NBEA_ENST00000540320.1_Missense_Mutation_p.I598S|NBEA_ENST00000379939.2_Missense_Mutation_p.I598S|NBEA_ENST00000310336.4_Missense_Mutation_p.I598S	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	598						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		TGTGATCACATTTTATTTAAC	0.348													G	35683539	T	G	35683539	3	3	433	1	0	0	0	0	1	0	0	0	10263	1493	52	5	1839	5	NBEA	13	35683539	Missense_Mutation	SNP	T	TCGA-DU-A7TC-01A-21D-A34J-08		35683539	79486339	28	42581											
TTBK2	146057	broad.mit.edu	37	chr15	43038236	43038244	+	In_Frame_Del	DEL	AGACGTGCG	AGACGTGCG	-																															gccctagatggtgaggaactAgacgtgcgaggcaaggatga																										TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43038236_43038244delAGACGTGCG	ENST00000267890.6	-	15	3592_3600	c.3484_3492delCGCACGTCT	c.(3484-3492)cgcacgtctdel	p.RTS1162del		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1162	Ser-rich.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GTGAGGAACTAGACGTGCGAGGCAAGGAT	0.574													-	43038244	AGACGTGCG	-	43038236	7	5	433	1	0	1	0	1	0	0	0	0	16779	407	15	0	246	0	TTBK2	15	43038236	In_Frame_Del	DEL	AGACGTGCG	TCGA-DU-A7TC-01A-21D-A34J-08		43038236	59493156	29	42582											
CKMT1B	1159	broad.mit.edu	37	chr15	43890406	43890406	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtggagagacttatcCaagaacgtggctgggagttc	10	9	14	8	1	1	2	1	0	0	2	3	5	2	4	1	4	1	2	1	4	3	2			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43890406C>G	ENST00000300283.6	+	8	1284	c.892C>G	c.(892-894)Caa>Gaa	p.Q298E	CKMT1B_ENST00000441322.1_Missense_Mutation_p.Q298E	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	298	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GAGACTTATCCAAGAACGTGG	0.483													G	43890406	C	G	43890406	3	3	433	1	0	0	0	0	1	0	0	0	3481	595	21	4	918	4	CKMT1B	15	43890406	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	852170	43890406	58640986	30	42583			1	56		2	2	21	C		2.325798e-05
CKMT1B	1159	broad.mit.edu	37	chr15	43890426	43890426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caagaacgtggctgggagttCatgtggaatgagcgtttggg	9	10	17	5	2	1	2	1	1	0	1	1	4	1	4	0	4	2	3	0	4	3	2			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr15:43890426C>G	ENST00000300283.6	+	8	1304	c.912C>G	c.(910-912)ttC>ttG	p.F304L	CKMT1B_ENST00000441322.1_Missense_Mutation_p.F304L	NM_020990.3	NP_066270.1	P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1B	304	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			large_intestine(1)|lung(3)|skin(1)	5		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	GCTGGGAGTTCATGTGGAATG	0.488													G	43890426	C	G	43890426	3	3	433	1	0	0	0	0	1	0	0	0	3481	825	29	4	938	4	CKMT1B	15	43890426	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08	20	43890426	58640966	31	42584			1	56		2	2	21	C		2.325798e-05
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	433	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		7577121	73618089	32	42585											
AXIN2	8313	broad.mit.edu	37	chr17	63533510	63533510	+	Frame_Shift_Del	DEL	C	C	-																															catttcgagtagcagtaataCtcgctgcccccagggcagaa																										TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr17:63533510delC	ENST00000307078.5	-	6	1957	c.1644delG	c.(1642-1644)gagfs	p.E548fs	AXIN2_ENST00000375702.5_Frame_Shift_Del_p.E548fs	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	548					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						AGCAGTAATACTCGCTGCCCC	0.617									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				-	63533510	C	-	63533510	7	5	433	1	0	1	0	1	0	0	0	0	1242	564	20	0	911	0	AXIN2	17	63533510	Frame_Shift_Del	DEL	C	TCGA-DU-A7TC-01A-21D-A34J-08	55956389	63533510	17661700	33	42586											
ABCA7	10347	broad.mit.edu	37	chr19	1053504	1053504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgaggctcactggctacGggatctccgacaccagcctc	8	7	11	15	2	2	1	1	1	1	0	4	3	2	2	3	3	3	3	3	3	1	1			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr19:1053504G>A	ENST00000263094.6	+	24	3628	c.3397G>A	c.(3397-3399)Ggg>Agg	p.G1133R	ABCA7_ENST00000435683.2_Missense_Mutation_p.G995R|ABCA7_ENST00000433129.1_Missense_Mutation_p.G1133R	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1133					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CACTGGCTACGGGATCTCCGA	0.647													A	1053504	G	A	1053504	3	1	433	1	0	0	0	0	1	0	0	0	37	1116	39	1	3487	1	ABCA7	19	1053504	Missense_Mutation	SNP	G	TCGA-DU-A7TC-01A-21D-A34J-08		1053504	58075479	34	42587											
ETFB	2109	broad.mit.edu	37	chr19	51853591	51853591	+	Frame_Shift_Del	DEL	A	A	-																															ctccagtctcacctgtggccAgtcaagaaatccagctgtca																										TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr19:51853591delA	ENST00000354232.4	-	3	3170	c.703delT	c.(703-705)tggfs	p.W235fs	CTD-2616J11.9_ENST00000600974.1_RNA|ETFB_ENST00000309244.4_Frame_Shift_Del_p.W144fs	NM_001014763.1	NP_001014763.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide	144					respiratory electron transport chain|transport	mitochondrial matrix	electron carrier activity			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACCTGTGGCCAGTCAAGAAAT	0.527													-	51853591	A	-	51853591	7	5	433	1	0	1	0	1	0	0	0	0	5311	188	7	0	349	0	ETFB	19	51853591	Frame_Shift_Del	DEL	A	TCGA-DU-A7TC-01A-21D-A34J-08	50800087	51853591	7275392	35	42588											
SSTR3	6753	broad.mit.edu	37	chr22	37603631	37603631	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagggctggccgtgtgcCgcaggaccacatagatgacc	9	6	14	12	2	0	3	0	2	0	1	0	4	0	4	4	3	1	2	4	3	2	1			TCGA-DU-A7TC-01A-21D-A34J-08	TCGA-DU-A7TC-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	680f3e13-d149-4785-b545-8acc85ae8a8d	2442dab3-2483-4124-aab0-e24aadf30f71	g.chr22:37603631C>T	ENST00000328544.3	-	2	745	c.212G>A	c.(211-213)cGg>cAg	p.R71Q	SSTR3_ENST00000402501.1_Missense_Mutation_p.R71Q	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	71					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GGCCGTGTGCCGCAGGACCAC	0.647													T	37603631	C	T	37603631	3	4	433	1	0	0	0	0	1	0	0	0	15295	652	23	1	1048	1	SSTR3	22	37603631	Missense_Mutation	SNP	C	TCGA-DU-A7TC-01A-21D-A34J-08		37603631	13700935	36	42589											
KIF1B	23095	broad.mit.edu	37	chr1	10436617	10436617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccataggtcaaagctttcccGcagatgcccgagccagtcga	10	7	10	14	3	1	1	1	0	0	1	3	3	2	1	4	1	3	2	4	1	2	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:10436617G>A	ENST00000377086.1	+	49	5625	c.5423G>A	c.(5422-5424)cGc>cAc	p.R1808H	KIF1B_ENST00000263934.6_Missense_Mutation_p.R1762H|KIF1B_ENST00000377081.1_Intron			O60333	KIF1B_HUMAN	kinesin family member 1B	1808					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAGCTTTCCCGCAGATGCCCG	0.527													A	10436617	G	A	10436617	3	1	434	1	0	0	0	0	1	0	0	0	8342	1087	38	1	6956	1	KIF1B	1	10436617	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		10436617	238814004	1	42590											
RPS6KA1	6195	broad.mit.edu	37	chr1	26888117	26888117	+	Frame_Shift_Del	DEL	C	C	-																															ggccagctttgtcctgcacaCcattggcaaaactgtggagt																										TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:26888117delC	ENST00000374168.2	+	17	1707	c.1553delC	c.(1552-1554)accfs	p.T518fs	RPS6KA1_ENST00000526792.1_Frame_Shift_Del_p.T426fs|RPS6KA1_ENST00000530003.1_Frame_Shift_Del_p.T502fs|RPS6KA1_ENST00000531382.1_Frame_Shift_Del_p.T527fs|RPS6KA1_ENST00000374166.4_Frame_Shift_Del_p.T507fs|RPS6KA1_ENST00000374162.2_Frame_Shift_Del_p.T426fs	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	518	Protein kinase 2.				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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTCCTGCACACCATTGGCAAA	0.567													-	26888117	C	-	26888117	7	5	434	1	0	1	0	1	0	0	0	0	13741	507	18	0	1758	0	RPS6KA1	1	26888117	Frame_Shift_Del	DEL	C	TCGA-DU-A7TD-01A-12D-A34A-08	16451500	26888117	222362504	2	42591											
EXTL2	2135	broad.mit.edu	37	chr1	101343089	101343089	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcctgtttgctgtctGttgtttgaagatcacaggga	7	16	10	8	0	3	2	2	1	2	1	5	3	4	3	1	1	1	4	1	1	1	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:101343089G>T	ENST00000370114.3	-	3	1812	c.376C>A	c.(376-378)Cag>Aag	p.Q126K	EXTL2_ENST00000535414.1_Missense_Mutation_p.Q113K|EXTL2_ENST00000370113.3_Missense_Mutation_p.Q126K	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	126					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGCTGTCTGTTGTTTGAAG	0.473													T	101343089	G	T	101343089	3	4	434	1	0	0	0	0	1	0	0	0	5368	1386	48	4	628	4	EXTL2	1	101343089	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	74454972	101343089	147907532	3	42592											
RORC	6097	broad.mit.edu	37	chr1	151780081	151780081	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccacatgctggctacacAggctccgaagcttccccttg	7	11	8	15	1	0	0	0	0	0	0	3	1	3	0	4	2	3	4	4	2	2	4			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:151780081A>T	ENST00000356728.6	-	10	1515	c.1361T>A	c.(1360-1362)cTg>cAg	p.L454Q	RORC_ENST00000318247.6_Missense_Mutation_p.L475Q|RORC_ENST00000392697.3_Missense_Mutation_p.L529Q|RORC_ENST00000480719.1_5'UTR	NM_001001523.1	NP_001001523.1	P51449	RORG_HUMAN	RAR-related orphan receptor C	475	Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			CTGGCTACACAGGCTCCGAAG	0.557													T	151780081	A	T	151780081	3	4	434	1	0	0	0	0	1	0	0	0	13621	188	7	5	136	5	RORC	1	151780081	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08	50436992	151780081	97470540	4	42593											
HRNR	388697	broad.mit.edu	37	chr1	152187734	152187734	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagtgacctgagccagacCcatgctgactgtaactagag	12	7	12	10	0	0	5	0	3	0	2	0	6	0	6	3	1	3	2	3	1	2	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:152187734C>A	ENST00000368801.2	-	3	6446	c.6371G>T	c.(6370-6372)gGg>gTg	p.G2124V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2124					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGAGCCAGACCCATGCTGACT	0.562													A	152187734	C	A	152187734	3	1	434	1	0	0	0	0	1	0	0	0	7414	623	22	4	2185	4	HRNR	1	152187734	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	407653	152187734	97062887	5	42594											
CD1E	913	broad.mit.edu	37	chr1	158324331	158324331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgtcttgggcaccatcCgctttctgaagccctggtcc	6	11	9	15	1	2	1	0	1	2	0	4	1	4	1	4	2	1	2	4	2	1	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:158324331C>T	ENST00000368160.3	+	2	223	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C	CD1E_ENST00000452291.2_Intron|CD1E_ENST00000444681.2_Intron|CD1E_ENST00000464822.1_Intron|CD1E_ENST00000368165.3_Missense_Mutation_p.R75C|CD1E_ENST00000368163.3_Missense_Mutation_p.R75C|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.R75C|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000434258.1_Missense_Mutation_p.R73C|CD1E_ENST00000368155.3_Missense_Mutation_p.R75C|CD1E_ENST00000368156.1_Missense_Mutation_p.R75C|CD1E_ENST00000368167.3_Missense_Mutation_p.R75C	NM_001042583.2	NP_001036048.1	P15812	CD1E_HUMAN	CD1e molecule	75					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GGGCACCATCCGCTTTCTGAA	0.512													T	158324331	C	T	158324331	3	4	434	1	0	0	0	0	1	0	0	0	3008	652	23	1	229	1	CD1E	1	158324331	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6136597	158324331	90926290	6	42595											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-																															atgtgcagcacagaccttggAaaaaaggggtaaaggcaagt																										TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418													-	203819140	A	-	203819140	7	5	434	1	0	1	0	1	0	0	0	0	17661	246	9	0	1975	0	ZC3H11A	1	203819140	Frame_Shift_Del	DEL	A	TCGA-DU-A7TD-01A-12D-A34A-08	45494809	203819140	45431481	7	42596											
SOX13	9580	broad.mit.edu	37	chr1	204085764	204085766	+	In_Frame_Del	DEL	AGC	AGC	-																															ggctgccatgctgtttgagaAgcagcagcagcagatggagc																										TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204085764_204085766delAGC	ENST00000367204.1	+	5	657_659	c.548_550delAGC	c.(547-552)aagcag>aag	p.Q187del	SOX13_ENST00000367203.4_3'UTR	NM_005686.2	NP_005677.2	Q9UN79	SOX13_HUMAN	SRY (sex determining region Y)-box 13	187	Gln-rich.				anatomical structure morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	13	all_cancers(21;0.0754)|Breast(84;0.116)|all_epithelial(62;0.189)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)			CTGTTTGAGAAGCAGCAGCAGCA	0.576													-	204085766	AGC	-	204085764	7	5	434	1	0	1	0	1	0	0	0	0	15038	72	3	0	562	0	SOX13	1	204085764	In_Frame_Del	DEL	AGC	TCGA-DU-A7TD-01A-12D-A34A-08	266624	204085764	45164857	8	42597											
REN	5972	broad.mit.edu	37	chr1	204135375	204135377	+	In_Frame_Del	DEL	AGC	AGC	-																															caaaggtacaggagccccagAgcagcagcagcagtccccag																								rs142739309		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:204135375_204135377delAGC	ENST00000367195.2	-	1	88_90	c.45_47delGCT	c.(43-48)ctgctc>ctc	p.15_16LL>L	REN_ENST00000272190.8_In_Frame_Del_p.15_16LL>L			P00797	RENI_HUMAN	renin	15					angiotensin maturation|regulation of MAPKKK cascade	extracellular space|membrane	aspartic-type endopeptidase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	GGAGCCCCAGAGCAGCAGCAGCA	0.581													-	204135377	AGC	-	204135375	7	5	434	1	0	1	0	1	0	0	0	0	13312	304	11	0	1213	0	REN	1	204135375	In_Frame_Del	DEL	AGC	TCGA-DU-A7TD-01A-12D-A34A-08	49611	204135375	45115246	9	42598											
OR11L1	391189	broad.mit.edu	37	chr1	248005188	248005188	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcacagtggaggtatttTggggctccattgcctgtggg	6	13	15	7	0	1	0	1	0	0	0	2	1	2	1	2	5	1	2	2	5	2	5			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr1:248005188T>C	ENST00000355784.2	-	1	66	c.11A>G	c.(10-12)cAa>cGa	p.Q4R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			GGAGGTATTTTGGGGCTCCAT	0.458													C	248005188	T	C	248005188	3	2	434	1	0	0	0	0	1	0	0	0	11006	1812	63	3	961	3	OR11L1	1	248005188	Missense_Mutation	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08	43869813	248005188	1245433	10	42599											
FAM179A	165186	broad.mit.edu	37	chr2	29259478	29259478	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgggcgctggagtccttCgccaagatgatccccctcct	6	9	11	15	2	0	2	0	1	0	1	4	3	3	3	5	2	0	1	5	2	1	1	rs140272239	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:29259478C>T	ENST00000379558.4	+	18	2841	c.2490C>T	c.(2488-2490)ttC>ttT	p.F830F	FAM179A_ENST00000465300.1_3'UTR|FAM179A_ENST00000403861.2_Silent_p.F775F	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	830							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGGAGTCCTTCGCCAAGATGA	0.498													T	29259478	C	T	29259478	2	4	434	1	0	0	0	0	0	0	0	1	5550	883	31	1		1	FAM179A	2	29259478	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		29259478	213939895	11	42600											
VPS54	51542	broad.mit.edu	37	chr2	64193065	64193065	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgaattaaaagttaaGgaatcatccaaggcaaaatc	21	8	6	6	0	1	1	1	1	0	0	3	2	2	2	1	2	1	2	1	2	10	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:64193065G>T	ENST00000409558.4	-	6	646	c.492C>A	c.(490-492)tcC>tcA	p.S164S	VPS54_ENST00000272322.4_Silent_p.S176S|VPS54_ENST00000354504.3_Silent_p.S59S	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi					endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TAAAAGTTAAGGAATCATCCA	0.313													T	64193065	G	T	64193065	2	4	434	1	0	0	0	0	0	0	0	1	17318	987	35	4		4	VPS54	2	64193065	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	34933587	64193065	179006308	12	42601											
IL18RAP	8807	broad.mit.edu	37	chr2	103040545	103040545	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtacccttcactttttgacCccaggggtgaataattctgg	8	14	9	10	0	2	2	1	2	1	0	2	2	2	2	3	3	1	1	3	3	3	6			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:103040545C>T	ENST00000264260.2	+	4	934	c.345C>T	c.(343-345)acC>acT	p.T115T	IL18RAP_ENST00000409369.1_Intron	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	115					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						ACTTTTTGACCCCAGGGGTGA	0.373													T	103040545	C	T	103040545	2	4	434	1	0	0	0	0	0	0	0	1	7706	610	22	2		2	IL18RAP	2	103040545	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	38847480	103040545	140158828	13	42602											
TNP1	7141	broad.mit.edu	37	chr2	217724630	217724630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcaccgtcatcgcccCgtttcctacttttcaggttg	5	14	6	16	3	4	0	4	0	0	0	6	0	5	0	4	1	1	2	4	1	1	5			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:217724630C>T	ENST00000236979.2	-	1	157	c.128G>A	c.(127-129)cGg>cAg	p.R43Q	AC007563.5_ENST00000447289.1_RNA	NM_003284.3	NP_003275.1	P09430	STP1_HUMAN	transition protein 1 (during histone to protamine replacement)	43					chromatin silencing|fertilization, exchange of chromosomal proteins|multicellular organismal development|nucleosome disassembly|single strand break repair|sperm motility|spermatid nucleus elongation	nucleosome	DNA binding			large_intestine(1)|lung(1)|stomach(1)	3		Renal(207;0.0822)		Epithelial(149;8.97e-07)|all cancers(144;2.46e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTCATCGCCCCGTTTCCTACT	0.557													T	217724630	C	T	217724630	3	4	434	1	0	0	0	0	1	0	0	0	16433	652	23	1	47	1	TNP1	2	217724630	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	114684085	217724630	25474743	14	42603											
OR6B3	150681	broad.mit.edu	37	chr2	240985194	240985194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaagaagtagagctgcGtcatgcacccgacgaaagag	14	5	13	9	3	1	4	1	1	0	3	1	6	1	4	1	0	4	4	1	0	4	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:240985194G>A	ENST00000319423.4	-	1	295	c.296C>T	c.(295-297)aCg>aTg	p.T99M		NM_173351.1	NP_775486.1	Q8NGW1	OR6B3_HUMAN	olfactory receptor, family 6, subfamily B, member 3	99					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(10)|lung(4)|ovary(2)|prostate(1)	18		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;1.05e-29)|all cancers(36;3.52e-28)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GTAGAGCTGCGTCATGCACCC	0.582													A	240985194	G	A	240985194	3	1	434	1	0	0	0	0	1	0	0	0	11265	1145	40	1	702	1	OR6B3	2	240985194	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	23260564	240985194	2214179	15	42604											
SNED1	25992	broad.mit.edu	37	chr2	241992689	241992689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcctgagcgcccccagcCgcatccgggtctgccagcca	7	4	11	19	3	1	1	0	1	1	0	2	1	2	1	7	1	5	1	7	1	0	0			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr2:241992689C>T	ENST00000310397.8	+	16	2203	c.2203C>T	c.(2203-2205)Cgc>Tgc	p.R735C	SNED1_ENST00000342631.6_Missense_Mutation_p.R735C|SNED1_ENST00000405547.3_Missense_Mutation_p.R735C|AC005237.4_ENST00000458377.1_RNA|SNED1_ENST00000469006.1_3'UTR|SNED1_ENST00000401884.1_Missense_Mutation_p.R735C	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	735	Sushi.				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGCCCCCAGCCGCATCCGGGT	0.687													T	241992689	C	T	241992689	3	4	434	1	0	0	0	0	1	0	0	0	14939	652	23	1	2265	1	SNED1	2	241992689	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	1007495	241992689	1206684	16	42605											
ABHD5	51099	broad.mit.edu	37	chr3	43759313	43759313	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcaattctggcaccagcatCcagtccttacgaccacattc	10	9	7	15	1	1	0	0	0	1	0	4	1	3	0	4	2	2	3	4	2	2	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:43759313C>T	ENST00000458276.2	+	6	1047	c.924C>T	c.(922-924)atC>atT	p.I308I	ABHD5_ENST00000463153.1_3'UTR	NM_016006.4	NP_057090.2	Q8WTS1	ABHD5_HUMAN	abhydrolase domain containing 5	308					cell differentiation|fatty acid metabolic process|negative regulation of sequestering of triglyceride|phosphatidic acid biosynthetic process|positive regulation of triglyceride catabolic process|triglyceride catabolic process	cytosol|lipid particle	1-acylglycerol-3-phosphate O-acyltransferase activity|lysophosphatidic acid acyltransferase activity			kidney(3)|large_intestine(2)|liver(2)|lung(5)|ovary(1)|skin(1)	14		Renal(3;0.0134)		KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0687)		GCACCAGCATCCAGTCCTTAC	0.453													T	43759313	C	T	43759313	2	4	434	1	0	0	0	0	0	0	0	1	85	845	30	2		2	ABHD5	3	43759313	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		43759313	154263117	17	42606											
GNAT1	2779	broad.mit.edu	37	chr3	50229245	50229245	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagaaggatgctcgaacCgtgaagctgctgcttctggg	8	9	15	9	2	1	2	0	2	1	1	2	5	1	3	1	2	5	5	1	2	3	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr3:50229245C>T	ENST00000232461.3	+	1	201	c.87C>T	c.(85-87)acC>acT	p.T29T	GNAT1_ENST00000433068.1_Silent_p.T29T	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	29					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		ATGCTCGAACCGTGAAGCTGC	0.622													T	50229245	C	T	50229245	2	4	434	1	0	0	0	0	0	0	0	1	6567	639	23	1		1	GNAT1	3	50229245	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6469932	50229245	147793185	18	42607											
REEP2	51308	broad.mit.edu	37	chr5	137781255	137781255	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagacaaagctcccaagaggGccaaacccatcaaaaaagcg	18	2	9	12	1	1	2	1	0	0	2	2	3	2	2	3	1	3	1	3	1	6	0			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:137781255G>A	ENST00000378339.2	+	7	856	c.664G>A	c.(664-666)Gcc>Acc	p.A222T	REEP2_ENST00000506158.1_Missense_Mutation_p.A182T|REEP2_ENST00000254901.5_Missense_Mutation_p.A220T	NM_001271803.1	NP_001258732.1	Q9BRK0	REEP2_HUMAN	receptor accessory protein 2	220						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			TCCCAAGAGGGCCAAACCCAT	0.597													A	137781255	G	A	137781255	3	1	434	1	0	0	0	0	1	0	0	0	13293	1203	42	2	684	2	REEP2	5	137781255	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		137781255	43134005	19	42608											
PCDHGB7	56099	broad.mit.edu	37	chr5	140797577	140797577	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcggtggtggggaacctcGctaaggatctagggcttagt	7	10	16	8	2	1	0	0	0	1	0	3	2	1	2	1	6	1	3	1	6	4	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr5:140797577G>A	ENST00000398594.2	+	1	151	c.151G>A	c.(151-153)Gct>Act	p.A51T	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGGAACCTCGCTAAGGATCT	0.607											OREG0016863	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140797577	G	A	140797577	3	1	434	1	0	0	0	0	1	0	0	0	11644	1087	38	1	153	1	PCDHGB7	5	140797577	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	3016322	140797577	40117683	20	42609											
CAGE1	285782	broad.mit.edu	37	chr6	7373751	7373751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctctaaatactgacttacaGatttatttttttgttgcatt	10	21	4	6	0	1	2	0	1	1	1	2	2	1	2	0	0	3	2	0	0	5	10			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:7373751G>A	ENST00000502583.1	-	5	1865	c.1301C>T	c.(1300-1302)tCt>tTt	p.S434F	CAGE1_ENST00000338150.4_Missense_Mutation_p.S434F|CAGE1_ENST00000512086.1_Missense_Mutation_p.S434F|CAGE1_ENST00000296742.7_Missense_Mutation_p.S298F|CAGE1_ENST00000379918.4_Missense_Mutation_p.S434F	NM_001170692.1	NP_001164163.1	Q8TC20	CAGE1_HUMAN	cancer antigen 1	434										breast(1)|cervix(1)|endometrium(3)|kidney(2)|lung(11)|urinary_tract(1)	19	Ovarian(93;0.0418)					CTGACTTACAGATTTATTTTT	0.343													A	7373751	G	A	7373751	3	1	434	1	0	0	0	0	1	0	0	0	2598	942	33	2	1364	2	CAGE1	6	7373751	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		7373751	163741316	21	42610											
SOBP	55084	broad.mit.edu	37	chr6	107955460	107955461	+	Frame_Shift_Ins	INS	-	-	C																															acccccaccatgcccgggaaINSccccccaggcctgctgcccc																										TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:107955460_107955461insC	ENST00000317357.5	+	6	2071_2072	c.1412_1413insC	c.(1411-1416)aaccccfs	p.NP471fs		NM_018013.3	NP_060483.3	A7XYQ1	SOBP_HUMAN	sine oculis binding protein homolog (Drosophila)	471	Pro-rich.						metal ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		ATGCCCGGGAACCCCCCAGGCC	0.733													C	107955461	-	C	107955460	7	5	434	1	0	1	1	0	0	0	0	0	15006	43	2	0	1434	0	SOBP	6	107955460	Frame_Shift_Ins	INS	-	TCGA-DU-A7TD-01A-12D-A34A-08	100581709	107955460	63159607	22	42611											
VTA1	51534	broad.mit.edu	37	chr6	142519682	142519682	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacatgccatcaggcaactaTactggaatacagattcctcc	14	9	6	12	0	1	1	1	0	0	1	3	2	3	2	3	2	5	1	3	2	6	4			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr6:142519682T>C	ENST00000367630.4	+	6	685	c.627T>C	c.(625-627)taT>taC	p.Y209Y	VTA1_ENST00000452973.2_Silent_p.Y151Y|VTA1_ENST00000367621.1_Silent_p.Y151Y|VTA1_ENST00000491881.1_3'UTR	NM_016485.3	NP_057569.2	Q9NP79	VTA1_HUMAN	vesicle (multivesicular body) trafficking 1	209	Interaction with VPS4B (By similarity).				cellular membrane organization|endosome transport|protein transport	cytosol|endosome membrane	protein binding			endometrium(2)|large_intestine(1)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;1.34e-05)|GBM - Glioblastoma multiforme(68;0.00182)		CAGGCAACTATACTGGAATAC	0.473													C	142519682	T	C	142519682	2	2	434	1	0	0	0	0	0	0	0	1	17335	1413	49	3		3	VTA1	6	142519682	Silent	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08	34564222	142519682	28595385	23	42612											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31146176	31146176	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttacttcgctgtggacttcAagcaccgacacccgtctctg	7	11	9	14	3	2	0	1	0	1	0	4	2	2	1	2	1	2	3	2	1	2	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:31146176A>C	ENST00000304166.4	+	16	1574	c.1285A>C	c.(1285-1287)Aag>Cag	p.K429Q	ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.K485Q|ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.K457Q|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.K408Q	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	429					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TGTGGACTTCAAGCACCGACA	0.587													C	31146176	A	C	31146176	3	2	434	1	0	0	0	0	1	0	0	0	303	131	5	5	1343	5	ADCYAP1R1	7	31146176	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08		31146176	127992487	24	42613											
EGFR	1956	broad.mit.edu	37	chr7	55221783	55221783	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaaccccaccacgtaccAgatggatgtgaaccccgagg	12	5	9	15	2	0	2	0	1	0	1	0	4	0	3	6	2	4	1	6	2	4	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:55221783A>T	ENST00000275493.2	+	7	1004	c.827A>T	c.(826-828)cAg>cTg	p.Q276L	EGFR_ENST00000442591.1_Missense_Mutation_p.Q276L|EGFR_ENST00000420316.2_Missense_Mutation_p.Q276L|EGFR_ENST00000344576.2_Missense_Mutation_p.Q276L|EGFR_ENST00000454757.2_Missense_Mutation_p.Q223L|EGFR_ENST00000455089.1_Missense_Mutation_p.Q231L|EGFR_ENST00000342916.3_Missense_Mutation_p.Q276L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	276					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ACCACGTACCAGATGGATGTG	0.587		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221783	A	T	55221783	3	4	434	1	0	0	0	0	1	0	0	0	5006	188	7	5	853	5	EGFR	7	55221783	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08	24075607	55221783	103916880	25	42614											
PCLO	27445	broad.mit.edu	37	chr7	82532025	82532025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccttgcgtgaggaaagatGtagtgcatagttttcccgtt	9	14	11	7	2	0	2	0	1	0	1	2	3	2	3	2	1	2	4	2	1	3	6			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:82532025G>A	ENST00000333891.9	-	9	13807	c.13470C>T	c.(13468-13470)taC>taT	p.Y4490Y	PCLO_ENST00000423517.2_Silent_p.Y4490Y	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GAGGAAAGATGTAGTGCATAG	0.299													A	82532025	G	A	82532025	2	1	434	1	0	0	0	0	0	0	0	1	11659	1372	48	2		2	PCLO	7	82532025	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	27310242	82532025	76606638	26	42615											
PEX1	5189	broad.mit.edu	37	chr7	92151417	92151417	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatcacatgtgcttaccTgtcccccatttgagagtcca	8	12	7	14	0	1	1	1	1	0	1	3	2	3	1	5	0	3	1	5	0	1	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:92151417T>C	ENST00000248633.4	-	2	367	c.272A>G	c.(271-273)cAg>cGg	p.Q91R	PEX1_ENST00000438045.1_Splice_Site_p.Q91R|PEX1_ENST00000428214.1_Splice_Site_p.Q91R	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	91					microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			TGTGCTTACCTGTCCCCCATT	0.353													C	92151417	T	C	92151417	5	2	434	1	0	0	0	0	0	0	1	0	11812	1594	55	3	3671	3	PEX1	7	92151417	Splice_Site	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08	9619392	92151417	66987246	27	42616											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-																															aacagcagcagcagcagcaaCagcagcagcagcagcaacag																										TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)cagdel	p.Q116del	FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													-	114270018	CAG	-	114270016	7	5	434	1	0	1	0	1	0	0	0	0	6078	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-DU-A7TD-01A-12D-A34A-08	22118599	114270016	44868647	28	42617											
GIMAP8	155038	broad.mit.edu	37	chr7	150171183	150171183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtcctccttgtggggaaaCgcggtgctggaaaaagtgca	10	8	14	9	2	0	0	0	0	0	0	2	2	2	2	2	4	3	2	2	4	3	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr7:150171183C>T	ENST00000307271.3	+	4	1340	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	256						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGTGGGGAAACGCGGTGCTGG	0.557													T	150171183	C	T	150171183	3	4	434	1	0	0	0	0	1	0	0	0	6441	536	19	1	776	1	GIMAP8	7	150171183	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	35901167	150171183	8967480	29	42618											
HEY1	23462	broad.mit.edu	37	chr8	80677812	80677812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcccccagggaatgtgtcCgaggcccgcgtgggcgccgc	4	5	17	15	5	0	0	0	0	0	0	2	2	2	1	5	4	0	0	5	4	1	0			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr8:80677812C>T	ENST00000337919.5	-	5	731	c.538G>A	c.(538-540)Gga>Aga	p.G180R	HEY1_ENST00000435063.2_5'UTR|HEY1_ENST00000523976.1_Missense_Mutation_p.G86R|HEY1_ENST00000354724.3_Missense_Mutation_p.G176R	NM_001040708.1	NP_001035798.1	Q9Y5J3	HEY1_HUMAN	hes-related family bHLH transcription factor with YRPW motif 1	176					angiogenesis|negative regulation of Notch signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|transcription, DNA-dependent	nucleus	DNA binding|protein binding		HEY1/NCOA2(10)	cervix(1)|kidney(2)|large_intestine(5)|lung(14)	22	all_lung(9;5.1e-05)		Epithelial(68;0.076)|all cancers(69;0.179)			GGAATGTGTCCGAGGCCCGCG	0.667			T	NCOA2	mesenchymal chondrosarcoma						OREG0018837	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	80677812	C	T	80677812	3	4	434	1	0	0	0	0	1	0	0	0	7133	661	23	1	392	1	HEY1	8	80677812	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		80677812	65686210	30	42619											
PTEN	5728	broad.mit.edu	37	chr10	89720875	89720875	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacttttctccaaattttaaGgtcagttaaattaaacattt	14	18	3	6	0	2	0	1	0	1	0	3	0	2	0	1	1	2	1	1	1	7	8			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr10:89720875G>A	ENST00000371953.3	+	8	2383	c.1026G>A	c.(1024-1026)aaG>aaA	p.K342K	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	342	C2 tensin-type.		K -> N (in CD; reduced phosphatase activity towards Ins(1,3,4,5)P4 but PtdIns(3,4,5)P3 phosphatase activity is similar to wild-type).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.K342N(2)|p.G165_*404del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAATTTTAAGGTCAGTTAAA	0.328		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720875	G	A	89720875	5	1	434	1	0	0	0	0	0	0	1	0	12823	1014	35	2	1056	2	PTEN	10	89720875	Splice_Site	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		89720875	45813872	31	42620											
CTSD	1509	broad.mit.edu	37	chr11	1776220	1776220	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatacttggagtctgtgccaCccagcatcagctcaccccca	10	8	7	16	0	3	0	2	0	1	0	3	1	3	1	4	1	4	2	4	1	2	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:1776220C>A	ENST00000236671.2	-	6	875	c.743G>T	c.(742-744)gGt>gTt	p.G248V	RP11-295K3.1_ENST00000427721.1_Missense_Mutation_p.V119L	NM_001909.4	NP_001900.1	P07339	CATD_HUMAN	cathepsin D	248					cell death|proteolysis	extracellular space|lysosome|melanosome	aspartic-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(8)	13		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;0.00136)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GTCTGTGCCACCCAGCATCAG	0.597													A	1776220	C	A	1776220	3	1	434	1	0	0	0	0	1	0	0	0	4065	507	18	4	511	4	CTSD	11	1776220	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		1776220	133230296	32	42621											
PTPN5	84867	broad.mit.edu	37	chr11	18765712	18765712	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagcccttcagcctcGtccagtgcctccatcactat	6	11	7	17	1	2	0	2	0	0	0	6	1	5	1	6	1	3	0	6	1	1	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:18765712G>A	ENST00000396170.1	-	4	1396	c.132C>T	c.(130-132)gaC>gaT	p.D44D	PTPN5_ENST00000396171.4_Silent_p.D44D|PTPN5_ENST00000358540.2_Silent_p.D44D|PTPN5_ENST00000396167.2_Silent_p.D44D|PTPN5_ENST00000496201.2_5'UTR|PTPN5_ENST00000396168.1_Silent_p.D20D	NM_001278236.1	NP_001265165.1	P54829	PTN5_HUMAN	protein tyrosine phosphatase, non-receptor type 5 (striatum-enriched)	44						integral to membrane	phosphotyrosine binding|protein tyrosine phosphatase activity	p.D44E(2)		breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|prostate(1)|skin(4)	27						CTTCAGCCTCGTCCAGTGCCT	0.672													A	18765712	G	A	18765712	2	1	434	1	0	0	0	0	0	0	0	1	12879	1136	40	1		1	PTPN5	11	18765712	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	16989492	18765712	116240804	33	42622											
GANAB	23193	broad.mit.edu	37	chr11	62406923	62406923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatggagagaggcctggccGtatgcttctctgtcgcctgc	5	11	14	11	2	1	1	0	0	1	1	3	3	1	2	3	3	2	3	3	3	2	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:62406923G>A	ENST00000346178.4	-	3	175	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Missense_Mutation_p.R54W|GANAB_ENST00000534779.1_Intron|GANAB_ENST00000534422.1_5'UTR	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	54					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						AGGCCTGGCCGTATGCTTCTC	0.547													A	62406923	G	A	62406923	3	1	434	1	0	0	0	0	1	0	0	0	6287	1144	40	1	2832	1	GANAB	11	62406923	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	43641211	62406923	72599593	34	42623											
TSGA10IP	254187	broad.mit.edu	37	chr11	65726678	65726678	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaatgcccggctcacCgtcactcggcgcttctccca	6	7	9	19	4	3	0	2	0	1	0	5	0	3	0	4	3	1	2	4	3	1	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:65726678C>T	ENST00000608857.1	+	0	1440				TSGA10IP_ENST00000532620.1_RNA	NM_152762.2	NP_689975.2	Q3SY00	T10IP_HUMAN	testis specific, 10 interacting protein											endometrium(2)|kidney(3)|lung(9)	14						CCCGGCTCACCGTCACTCGGC	0.652													T	65726678	C	T	65726678	1	4	434	0	1	0	0	0	0	0	0	0	16719	639	23	1		1	TSGA10IP	11	65726678	RNA	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	3319755	65726678	69279838	35	42624											
AMOTL1	154810	broad.mit.edu	37	chr11	94533071	94533071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcccactgtgaaccgtGccaacagtggacaggcgcat	10	5	14	12	2	0	1	0	1	0	0	0	3	0	3	3	4	3	1	3	4	2	0			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr11:94533071G>A	ENST00000433060.2	+	3	856	c.715G>A	c.(715-717)Gcc>Acc	p.A239T	AMOTL1_ENST00000317829.8_Missense_Mutation_p.A189T|AMOTL1_ENST00000317837.9_Missense_Mutation_p.A239T	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	239						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				TGTGAACCGTGCCAACAGTGG	0.627													A	94533071	G	A	94533071	3	1	434	1	0	0	0	0	1	0	0	0	583	1319	46	2	725	2	AMOTL1	11	94533071	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	28806393	94533071	40473445	36	42625											
SLCO1B1	10599	broad.mit.edu	37	chr12	21331948	21331948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtggatattggatatgtaGatctaagtaagtacaaccag	15	11	10	5	1	1	1	0	0	1	1	1	3	1	3	1	2	2	3	1	2	7	7			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:21331948G>A	ENST00000256958.2	+	7	817	c.721G>A	c.(721-723)Gat>Aat	p.D241N		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	241			D -> N.		bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TGGATATGTAGATCTAAGTAA	0.338													A	21331948	G	A	21331948	3	1	434	1	0	0	0	0	1	0	0	0	14817	942	33	2	743	2	SLCO1B1	12	21331948	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		21331948	112519947	37	42626											
ACACB	32	broad.mit.edu	37	chr12	109644574	109644574	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcccatcctcggagagaaActgcaccaggtcttccacag	10	7	9	15	1	1	1	0	0	1	1	4	3	3	2	4	2	3	1	4	2	1	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:109644574A>G	ENST00000338432.7	+	20	3092	c.2973A>G	c.(2971-2973)aaA>aaG	p.K991K	ACACB_ENST00000377848.3_Silent_p.K991K|ACACB_ENST00000377854.5_Silent_p.K991K			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	991					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TCGGAGAGAAACTGCACCAGG	0.522													G	109644574	A	G	109644574	2	3	434	1	0	0	0	0	0	0	0	1	107	40	2	3		3	ACACB	12	109644574	Silent	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08	88312626	109644574	24207321	38	42627											
CIT	11113	broad.mit.edu	37	chr12	120152022	120152022	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagacatttggatgcctggCgtccaaagtgcacggtatcc	9	9	12	11	3	0	1	0	0	0	1	2	3	2	2	3	3	2	2	3	3	2	2	rs140614337		TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr12:120152022C>T	ENST00000392521.2	-	33	4341	c.4286G>A	c.(4285-4287)cGc>cAc	p.R1429H	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.R1387H	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1387					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		GGATGCCTGGCGTCCAAAGTG	0.488													T	120152022	C	T	120152022	3	4	434	1	0	0	0	0	1	0	0	0	3469	768	27	1	1987	1	CIT	12	120152022	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	10507448	120152022	13699873	39	42628											
DLK1	8788	broad.mit.edu	37	chr14	101201221	101201221	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaaggaggccggcgaCgaggagatctaagcagcgtt	11	6	15	9	4	2	1	1	0	1	1	2	5	2	2	1	4	3	3	1	4	2	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr14:101201221C>T	ENST00000341267.4	+	5	1382	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	DLK1_ENST00000331224.6_Silent_p.D307D	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	380					multicellular organismal development	extracellular space|integral to membrane|soluble fraction		p.D380D(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AGGCCGGCGACGAGGAGATCT	0.547													T	101201221	C	T	101201221	2	4	434	1	0	0	0	0	0	0	0	1	4603	535	19	1		1	DLK1	14	101201221	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08		101201221	6148319	40	42629											
STRC	161497	broad.mit.edu	37	chr15	43893668	43893668	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactaggatcagctcctgtaGttcccgatctcctagaccta	9	11	7	14	1	2	1	1	0	1	1	5	3	4	2	4	1	1	3	4	1	4	5			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:43893668G>T	ENST00000450892.2	-	24	4704	c.4627C>A	c.(4627-4629)Cta>Ata	p.L1543I	STRC_ENST00000541030.1_Missense_Mutation_p.L770I	NM_153700.2	NP_714544.1	Q7RTU9	STRC_HUMAN	stereocilin	1543					sensory perception of sound	cell surface				skin(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)		AGCTCCTGTAGTTCCCGATCT	0.567													T	43893668	G	T	43893668	3	4	434	1	0	0	0	0	1	0	0	0	15424	1020	36	4	724	4	STRC	15	43893668	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		43893668	58637724	41	42630											
SLC28A2	9153	broad.mit.edu	37	chr15	45559948	45559948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agctagcgtatccggaagtgGaggagtccaagttcaagagt	12	8	14	7	2	1	1	1	0	0	1	3	4	3	4	2	3	2	3	2	3	5	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr15:45559948G>A	ENST00000347644.3	+	12	1218	c.1153G>A	c.(1153-1155)Gag>Aag	p.E385K	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	385			E -> K.		nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TCCGGAAGTGGAGGAGTCCAA	0.552													A	45559948	G	A	45559948	3	1	434	1	0	0	0	0	1	0	0	0	14626	1175	41	2	1195	2	SLC28A2	15	45559948	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	1666280	45559948	56971444	42	42631											
NOXO1	124056	broad.mit.edu	37	chr16	2030145	2030145	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcggcccgcagcgcgagAaagaggctgctcctctgggg	7	4	18	12	4	1	2	0	0	1	2	2	4	2	2	2	5	2	3	2	5	1	0			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:2030145A>G	ENST00000354249.4	-	5	805	c.436T>C	c.(436-438)Tct>Cct	p.S146P	TBL3_ENST00000568546.1_3'UTR|NOXO1_ENST00000566005.1_Missense_Mutation_p.S151P|NOXO1_ENST00000397280.4_Missense_Mutation_p.S152P|NOXO1_ENST00000356120.4_Missense_Mutation_p.S147P	NM_001267721.1|NM_144603.3|NM_172167.2|NM_172168.2	NP_001254650.1|NP_653204.1|NP_751907.1|NP_751908.1	Q8NFA2	NOXO1_HUMAN	NADPH oxidase organizer 1	152					cell communication|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst	NADPH oxidase complex	enzyme binding|phosphatidylinositol binding|superoxide-generating NADPH oxidase activator activity			lung(2)	2						GCAGCGCGAGAAAGAGGCTGC	0.667													G	2030145	A	G	2030145	3	3	434	1	0	0	0	0	1	0	0	0	10637	246	9	3	692	3	NOXO1	16	2030145	Missense_Mutation	SNP	A	TCGA-DU-A7TD-01A-12D-A34A-08		2030145	88324608	43	42632											
GLYR1	84656	broad.mit.edu	37	chr16	4882886	4882886	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttatgagcatgatatggCttcagctgttccactttgat	8	17	8	8	0	2	3	1	3	1	0	3	3	3	3	1	1	2	4	1	1	2	6			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:4882886C>T	ENST00000321919.9	-	4	259	c.183G>A	c.(181-183)aaG>aaA	p.K61K	GLYR1_ENST00000586901.1_5'UTR|GLYR1_ENST00000591451.1_Silent_p.K61K|GLYR1_ENST00000436648.5_Silent_p.K61K|GLYR1_ENST00000381983.3_Silent_p.K61K	NM_032569.3	NP_115958	Q49A26	GLYR1_HUMAN	glyoxylate reductase 1 homolog (Arabidopsis)	61	PWWP.				pentose-phosphate shunt	nucleus	coenzyme binding|DNA binding|methylated histone residue binding|phosphogluconate dehydrogenase (decarboxylating) activity			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	19						CATGATATGGCTTCAGCTGTT	0.418													T	4882886	C	T	4882886	2	4	434	1	0	0	0	0	0	0	0	1	6539	796	28	2		2	GLYR1	16	4882886	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	2852741	4882886	85471867	44	42633											
VWA3A	146177	broad.mit.edu	37	chr16	22122275	22122275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctttggcaccaatgccGggtccctctggccagacccc	5	9	10	17	1	1	1	0	0	1	1	3	1	3	1	7	3	1	1	7	3	1	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:22122275G>A	ENST00000389398.5	+	8	745	c.649G>A	c.(649-651)Ggg>Agg	p.G217R	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	217						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		CACCAATGCCGGGTCCCTCTG	0.552													A	22122275	G	A	22122275	3	1	434	1	0	0	0	0	1	0	0	0	17342	1116	39	1	679	1	VWA3A	16	22122275	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08	17239389	22122275	68232478	45	42634											
PLCG2	5336	broad.mit.edu	37	chr16	81957132	81957132	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtatgactacaaagccaagCgaagcgatgagctgagcttc	13	8	11	9	2	0	3	0	3	0	0	1	5	0	3	1	0	6	3	1	0	5	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:81957132C>T	ENST00000359376.3	+	22	2564	c.2350C>T	c.(2350-2352)Cga>Tga	p.R784*		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	784	SH3.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						CAAAGCCAAGCGAAGCGATGA	0.592													T	81957132	C	T	81957132	4	4	434	1	0	0	0	0	0	1	0	0	12113	760	27	1	2432	1	PLCG2	16	81957132	Nonsense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	59834857	81957132	8397621	46	42635											
GALNS	2588	broad.mit.edu	37	chr16	88889098	88889098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgacccctgaaacgttctgCccagggcagaaatcaatgcc	11	7	10	13	1	2	3	1	2	1	1	2	3	2	3	4	1	3	2	4	1	3	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr16:88889098C>T	ENST00000268695.5	-	12	1351	c.1263G>A	c.(1261-1263)ggG>ggA	p.G421G	GALNS_ENST00000542788.1_Silent_p.G346G	NM_000512.4	NP_000503.1	P34059	GALNS_HUMAN	galactosamine (N-acetyl)-6-sulfate sulfatase	421						lysosome	metal ion binding|N-acetylgalactosamine-4-sulfatase activity|N-acetylgalactosamine-6-sulfatase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(8)	22				BRCA - Breast invasive adenocarcinoma(80;0.0496)	Hyaluronidase(DB00070)	AAACGTTCTGCCCAGGGCAGA	0.617													T	88889098	C	T	88889098	2	4	434	1	0	0	0	0	0	0	0	1	6260	726	26	2		2	GALNS	16	88889098	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6931966	88889098	1465655	47	42636											
LPIN2	9663	broad.mit.edu	37	chr18	2923857	2923857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatctgtcccaaagcatccGacctaagaagacggtagaaa	16	6	9	10	2	1	3	0	0	1	3	3	5	3	3	3	1	1	2	3	1	6	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:2923857G>A	ENST00000261596.4	-	16	2328	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L		NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	697	C-LIP.				fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CAAAGCATCCGACCTAAGAAG	0.468													A	2923857	G	A	2923857	3	1	434	1	0	0	0	0	1	0	0	0	8989	1059	37	1	620	1	LPIN2	18	2923857	Missense_Mutation	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		2923857	75153391	48	42637											
ESCO1	114799	broad.mit.edu	37	chr18	19112440	19112440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacattcaagttaccttaggCattcaatcatgcgagaagca	14	11	7	9	1	3	1	3	0	0	1	3	2	3	1	1	1	4	3	1	1	6	5			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr18:19112440C>T	ENST00000269214.5	-	11	3306	c.2369G>A	c.(2368-2370)tGc>tAc	p.C790Y		NM_052911.2	NP_443143.2	Q5FWF5	ESCO1_HUMAN	establishment of sister chromatid cohesion N-acetyltransferase 1	790					cell cycle|post-translational protein acetylation|regulation of DNA replication	chromatin|nucleus	acyltransferase activity|metal ion binding			breast(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(10)|prostate(3)|upper_aerodigestive_tract(1)	35						TTACCTTAGGCATTCAATCAT	0.393													T	19112440	C	T	19112440	3	4	434	1	0	0	0	0	1	0	0	0	5289	710	25	2	161	2	ESCO1	18	19112440	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	16188583	19112440	58964808	49	42638											
POLRMT	5442	broad.mit.edu	37	chr19	621242	621242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcagggcccgcgccacgTcgctgcccaggtggttgaag	6	5	15	15	4	0	1	0	1	0	0	1	1	0	1	4	3	2	3	4	3	1	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:621242T>A	ENST00000588649.2	-	10	2540	c.2456A>T	c.(2455-2457)gAc>gTc	p.D819V		NM_005035.3	NP_005026.3	O00411	RPOM_HUMAN	polymerase (RNA) mitochondrial (DNA directed)	819	Mediates interaction with TEFM.				transcription initiation from mitochondrial promoter	mitochondrial nucleoid	DNA binding|DNA-directed RNA polymerase activity|protein binding			cervix(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)|prostate(1)|stomach(1)	20		all_epithelial(18;2.78e-22)|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)		CCGCGCCACGTCGCTGCCCAG	0.701													A	621242	T	A	621242	3	1	434	1	0	0	0	0	1	0	0	0	12315	1667	58	5	1284	5	POLRMT	19	621242	Missense_Mutation	SNP	T	TCGA-DU-A7TD-01A-12D-A34A-08		621242	58507741	50	42639											
TNFSF14	8740	broad.mit.edu	37	chr19	6665007	6665007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgttcatccagcacaCggacgaccaccttctcccca	9	6	7	19	3	2	0	1	0	1	0	4	2	3	1	6	2	1	2	6	2	0	2	rs150171386	byFrequency	TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:6665007C>T	ENST00000326176.9	-	5	926	c.545G>A	c.(544-546)cGt>cAt	p.R182H	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R218H|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R182H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	218					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ATCCAGCACACGGACGACCAC	0.622													T	6665007	C	T	6665007	3	4	434	1	0	0	0	0	1	0	0	0	16407	536	19	1	73	1	TNFSF14	19	6665007	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	6043765	6665007	52463976	51	42640											
MUC16	94025	broad.mit.edu	37	chr19	8976426	8976426	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggctgccccatccttCtcaggcctggggagagaggc	6	7	14	14	0	1	1	1	0	1	1	3	3	2	2	5	5	1	1	5	5	0	1			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:8976426C>A	ENST00000397910.4	-	75	42605	c.42402G>T	c.(42400-42402)gaG>gaT	p.E14134D	MUC16_ENST00000380951.5_Missense_Mutation_p.E775D|MUC16_ENST00000596956.1_Intron	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14165	SEA 14.			Missing (in Ref. 3; AAK74120).	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						CCCCATCCTTCTCAGGCCTGG	0.612													A	8976426	C	A	8976426	3	1	434	1	0	0	0	0	1	0	0	0	10049	912	32	4	1161	4	MUC16	19	8976426	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	2311419	8976426	50152557	52	42641											
NLRP2	55655	broad.mit.edu	37	chr19	55508845	55508845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttccagtggcaccctcCggacactcaggtatgatcca	9	9	9	14	1	1	1	1	1	0	0	4	2	4	2	4	3	0	3	4	3	1	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:55508845C>T	ENST00000543010.1	+	12	3183	c.3040C>T	c.(3040-3042)Cgg>Tgg	p.R1014W	NLRP2_ENST00000537859.1_Missense_Mutation_p.R992W|NLRP2_ENST00000391721.4_Missense_Mutation_p.R990W|NLRP2_ENST00000263437.6_Missense_Mutation_p.R1011W|NLRP2_ENST00000339757.7_Missense_Mutation_p.R992W|NLRP2_ENST00000427260.2_Missense_Mutation_p.R991W|NLRP2_ENST00000538819.1_Missense_Mutation_p.R990W|NLRP2_ENST00000448584.2_Missense_Mutation_p.R1014W	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	1014					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGCACCCTCCGGACACTCAG	0.512													T	55508845	C	T	55508845	3	4	434	1	0	0	0	0	1	0	0	0	10553	643	23	1	3082	1	NLRP2	19	55508845	Missense_Mutation	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	46532419	55508845	3620138	53	42642											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549411	58549411	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgccagtggctgaggccCgaggcgcgctccaaggagca	7	4	16	14	4	0	1	0	1	0	0	1	3	1	2	4	4	2	3	4	4	1	0			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr19:58549411C>G	ENST00000282326.1	+	3	454	c.207C>G	c.(205-207)ccC>ccG	p.P69P	ZSCAN1_ENST00000391700.1_Silent_p.P69P|ZSCAN1_ENST00000601162.1_Silent_p.P69P	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	69	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GGCTGAGGCCCGAGGCGCGCT	0.706													G	58549411	C	G	58549411	2	3	434	1	0	0	0	0	0	0	0	1	18325	639	23	4		4	ZSCAN1	19	58549411	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	3040566	58549411	579572	54	42643											
RFPL2	10739	broad.mit.edu	37	chr22	32587158	32587158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctgtgcttgttcccacGtccacctcccagcagtggcg	5	11	9	16	2	1	0	0	0	1	0	4	0	4	0	4	1	2	3	4	1	0	3			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32587158G>A	ENST00000400236.3	-	5	1673	c.468C>T	c.(466-468)gaC>gaT	p.D156D	RFPL2_ENST00000248980.4_Silent_p.D185D|RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000400237.1_Silent_p.D246D|RFPL2_ENST00000248983.4_Silent_p.D156D	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	246							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TTGTTCCCACGTCCACCTCCC	0.567													A	32587158	G	A	32587158	2	1	434	1	0	0	0	0	0	0	0	1	13342	1136	40	1		1	RFPL2	22	32587158	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		32587158	18717408	55	42644											
SLC5A4	6527	broad.mit.edu	37	chr22	32614591	32614591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacgagggcctctcagaCgtgtctgtgagcttcttgct	5	12	11	13	2	3	2	1	1	3	1	5	3	4	2	2	1	2	2	2	1	0	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:32614591C>T	ENST00000266086.4	-	15	1901	c.1890G>A	c.(1888-1890)acG>acA	p.T630T	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	630					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GCCTCTCAGACGTGTCTGTGA	0.517													T	32614591	C	T	32614591	2	4	434	1	0	0	0	0	0	0	0	1	14761	523	19	1		1	SLC5A4	22	32614591	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	27433	32614591	18689975	56	42645											
SSTR3	6753	broad.mit.edu	37	chr22	37603624	37603624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgactgaagggctggcCgtgtgccgcaggaccacata	8	8	15	10	2	0	2	0	2	0	0	0	3	0	3	3	4	1	2	3	4	2	2			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chr22:37603624C>T	ENST00000328544.3	-	2	752	c.219G>A	c.(217-219)acG>acA	p.T73T	SSTR3_ENST00000402501.1_Silent_p.T73T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	73					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity	p.T73T(1)		NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						AAGGGCTGGCCGTGTGCCGCA	0.642													T	37603624	C	T	37603624	2	4	434	1	0	0	0	0	0	0	0	1	15295	639	23	1		1	SSTR3	22	37603624	Silent	SNP	C	TCGA-DU-A7TD-01A-12D-A34A-08	4989033	37603624	13700942	57	42646											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-DU-A7TD-01A-12D-A34A-08	TCGA-DU-A7TD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9d0fdcb-9c40-4469-8aae-d7386c5237b1	ae422b79-6294-442d-a3a5-e631922ed41f	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	434	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-DU-A7TD-01A-12D-A34A-08		150156360	5114200	58	42647											
ELK4	2005	broad.mit.edu	37	chr1	205585723	205585723	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggggtggaaggtccaTccagcccagacagagtgaat	11	5	15	10	0	0	3	0	1	0	2	2	4	2	4	4	5	1	0	4	5	2	0			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr1:205585723T>C	ENST00000357992.4	-	5	1586	c.1247A>G	c.(1246-1248)gAt>gGt	p.D416G		NM_001973.3	NP_001964.2			ELK4, ETS-domain protein (SRF accessory protein 1)										SLC45A3/ELK4(18)	breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	12	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0908)			GGAAGGTCCATCCAGCCCAGA	0.453			T	SLC45A3	prostate								C	205585723	T	C	205585723	3	2	435	1	0	0	0	0	1	0	0	0	5102	1435	50	3	52	3	ELK4	1	205585723	Missense_Mutation	SNP	T	TCGA-DU-A7TG-01A-21D-A34J-08		205585723	43664898	1	42648											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	435	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-DU-A7TG-01A-21D-A34J-08		209113112	34086261	2	42649											
OR5H6	79295	broad.mit.edu	37	chr3	97983325	97983325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtctaattgttctcatctGgaaagaccctcaccttcata	10	14	6	11	0	5	1	3	0	3	1	6	2	5	2	2	2	0	1	2	2	3	5			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr3:97983325G>T	ENST00000383696.2	+	1	238	c.197G>T	c.(196-198)tGg>tTg	p.W66L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	66					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						GTTCTCATCTGGAAAGACCCT	0.418													T	97983325	G	T	97983325	3	4	435	1	0	0	0	0	1	0	0	0	11239	1357	47	4	199	4	OR5H6	3	97983325	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		97983325	100039105	3	42650											
GPR115	221393	broad.mit.edu	37	chr6	47682296	47682296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacggagatatcatacatgCgtcacgtgtgcatcgtgaat	11	11	11	8	4	2	3	2	2	0	1	3	4	2	3	0	1	3	1	0	1	3	2			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:47682296C>T	ENST00000283303.2	+	6	1573	c.1315C>T	c.(1315-1317)Cgt>Tgt	p.R439C	GPR115_ENST00000371220.1_Missense_Mutation_p.R496C|GPR115_ENST00000327753.3_Missense_Mutation_p.R439C	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	439					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R439C(1)		NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						ATCATACATGCGTCACGTGTG	0.483													T	47682296	C	T	47682296	3	4	435	1	0	0	0	0	1	0	0	0	6686	768	27	1	1333	1	GPR115	6	47682296	Missense_Mutation	SNP	C	TCGA-DU-A7TG-01A-21D-A34J-08		47682296	123432771	4	42651											
BMP5	653	broad.mit.edu	37	chr6	55659164	55659164	+	Frame_Shift_Del	DEL	C	C	-																															ggtcacagtgatatcaaagaCaagccaacccacatctaaag																										TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:55659164delC	ENST00000370830.3	-	3	1443	c.745delG	c.(745-747)gtcfs	p.V249fs	BMP5_ENST00000446683.2_Frame_Shift_Del_p.V249fs	NM_021073.2	NP_066551.1	P22003	BMP5_HUMAN	bone morphogenetic protein 5	249					cartilage development|cell differentiation|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	45	Lung NSC(77;0.0462)		LUSC - Lung squamous cell carcinoma(124;0.181)			ATATCAAAGACAAGCCAACCC	0.403													-	55659164	C	-	55659164	7	5	435	1	0	1	0	1	0	0	0	0	1469	478	17	0	639	0	BMP5	6	55659164	Frame_Shift_Del	DEL	C	TCGA-DU-A7TG-01A-21D-A34J-08	7976868	55659164	115455903	5	42652											
WDR27	253769	broad.mit.edu	37	chr6	170070679	170070679	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttacctcaatatccagcaTgaatattttgtttccagcac	11	15	4	11	0	2	1	1	1	1	0	4	1	4	1	3	0	3	3	3	0	5	6			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr6:170070679T>A	ENST00000333572.6	-	4	961	c.442A>T	c.(442-444)Atg>Ttg	p.M148L	WDR27_ENST00000420344.2_Missense_Mutation_p.M148L|WDR27_ENST00000448612.1_Missense_Mutation_p.M148L|WDR27_ENST00000423258.1_Intron			A2RRH5	WDR27_HUMAN	WD repeat domain 27	148										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		ATATCCAGCATGAATATTTTG	0.493													A	170070679	T	A	170070679	3	1	435	1	0	0	0	0	1	0	0	0	17386	1464	51	5	2219	5	WDR27	6	170070679	Missense_Mutation	SNP	T	TCGA-DU-A7TG-01A-21D-A34J-08	114411515	170070679	1044388	6	42653											
CDH17	1015	broad.mit.edu	37	chr8	95178176	95178176	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattttcttcatccctgtcAtgtgcagtaagggtcccgat	7	15	9	10	1	3	0	2	0	1	0	5	1	5	0	2	1	1	3	2	1	2	5			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr8:95178176A>G	ENST00000027335.3	-	10	1219	c.1095T>C	c.(1093-1095)caT>caC	p.H365H	CDH17_ENST00000441892.2_Silent_p.H151H|CDH17_ENST00000450165.2_Silent_p.H365H	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	365	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATCCCTGTCATGTGCAGTAA	0.408													G	95178176	A	G	95178176	2	3	435	1	0	0	0	0	0	0	0	1	3132	214	8	3		3	CDH17	8	95178176	Silent	SNP	A	TCGA-DU-A7TG-01A-21D-A34J-08		95178176	51185846	7	42654											
TAF1L	138474	broad.mit.edu	37	chr9	32632685	32632685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcacctctaggagacActtgcccttcatggcagcaa	10	8	8	15	0	3	1	2	0	1	1	3	2	3	1	3	2	2	2	3	2	2	3			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr9:32632685A>G	ENST00000242310.4	-	1	2982	c.2893T>C	c.(2893-2895)Tgt>Cgt	p.C965R		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	965					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		TCTAGGAGACACTTGCCCTTC	0.468													G	32632685	A	G	32632685	3	3	435	1	0	0	0	0	1	0	0	0	15620	159	6	3	2591	3	TAF1L	9	32632685	Missense_Mutation	SNP	A	TCGA-DU-A7TG-01A-21D-A34J-08		32632685	108580746	8	42655											
DNHD1	144132	broad.mit.edu	37	chr11	6519690	6519690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtagccctgcagcttggcGctatcttcatgcagtactgg	7	11	11	12	1	2	0	1	0	1	0	2	0	2	0	1	2	5	6	1	2	3	5			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr11:6519690G>A	ENST00000254579.6	+	3	809	c.245G>A	c.(244-246)cGc>cAc	p.R82H	DNHD1_ENST00000354685.3_Missense_Mutation_p.R82H|DNHD1_ENST00000527990.2_Missense_Mutation_p.R82H|DNHD1_ENST00000477562.1_3'UTR	NM_144666.2	NP_653267.2	Q96M86	DNHD1_HUMAN	dynein heavy chain domain 1	82					microtubule-based movement	dynein complex	microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(4)|endometrium(13)|kidney(6)|large_intestine(11)|lung(14)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	55		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.171)		Epithelial(150;3.93e-08)|BRCA - Breast invasive adenocarcinoma(625;0.13)		GCAGCTTGGCGCTATCTTCAT	0.557													A	6519690	G	A	6519690	3	1	435	1	0	0	0	0	1	0	0	0	4707	1087	38	1	247	1	DNHD1	11	6519690	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		6519690	128486826	9	42656											
MYH7	4625	broad.mit.edu	37	chr14	23897871	23897871	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgatgcagagctgctcaaaGctgttgaactgcagggggca	10	9	14	8	0	1	3	1	2	0	1	1	3	1	3	0	2	6	7	0	2	2	2			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr14:23897871G>A	ENST00000355349.3	-	15	1578	c.1416C>T	c.(1414-1416)agC>agT	p.S472S		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	472	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCTGCTCAAAGCTGTTGAACT	0.577													A	23897871	G	A	23897871	2	1	435	1	0	0	0	0	0	0	0	1	10115	962	34	2		2	MYH7	14	23897871	Silent	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		23897871	83451669	10	42657											
ZNF280D	54816	broad.mit.edu	37	chr15	56924126	56924126	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtatttgttttttctttTccactttatctgcaccaata	7	22	4	8	0	2	0	0	0	2	0	3	0	3	0	2	0	1	4	2	0	4	11			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr15:56924126T>C	ENST00000559237.1	-	21	3154	c.2471A>G	c.(2470-2472)gAa>gGa	p.E824G	ZNF280D_ENST00000267807.7_Missense_Mutation_p.E837G	NM_001002843.1	NP_001002843.1	Q6N043	Z280D_HUMAN	zinc finger protein 280D	837					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(4)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	30				all cancers(107;0.0399)|GBM - Glioblastoma multiforme(80;0.0787)		TTTTTTCTTTTCCACTTTATC	0.353													C	56924126	T	C	56924126	3	2	435	1	0	0	0	0	1	0	0	0	17918	1783	62	3	433	3	ZNF280D	15	56924126	Missense_Mutation	SNP	T	TCGA-DU-A7TG-01A-21D-A34J-08		56924126	45607266	11	42658											
TEKT1	83659	broad.mit.edu	37	chr17	6704170	6704170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcctggtctccaagcgCgtatgagccaccttggctgg	5	11	13	12	2	1	1	0	1	1	0	3	1	2	1	4	3	2	2	4	3	2	2			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:6704170C>T	ENST00000338694.2	-	7	1074	c.945G>A	c.(943-945)acG>acA	p.T315T	TEKT1_ENST00000535086.1_Silent_p.T169T	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	315					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TCTCCAAGCGCGTATGAGCCA	0.502											OREG0024124	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	6704170	C	T	6704170	2	4	435	1	0	0	0	0	0	0	0	1	15852	755	27	1		1	TEKT1	17	6704170	Silent	SNP	C	TCGA-DU-A7TG-01A-21D-A34J-08		6704170	74491040	12	42659											
METTL2A	339175	broad.mit.edu	37	chr17	60526028	60526028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccgaggaaagcaactgAcaatgtaccgggtttggatt	13	9	12	7	2	0	2	0	2	0	0	0	5	0	4	2	3	4	3	2	3	5	3			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:60526028A>G	ENST00000311506.5	+	9	1111	c.1075A>G	c.(1075-1077)Aca>Gca	p.T359A		NM_181725.3	NP_859076.3	Q96IZ6	MTL2A_HUMAN	methyltransferase like 2A	359							methyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(1)|upper_aerodigestive_tract(2)	6			BRCA - Breast invasive adenocarcinoma(2;1.08e-10)			AAAGCAACTGACAATGTACCG	0.532													G	60526028	A	G	60526028	3	3	435	1	0	0	0	0	1	0	0	0	9574	275	10	3	1109	3	METTL2A	17	60526028	Missense_Mutation	SNP	A	TCGA-DU-A7TG-01A-21D-A34J-08	53821858	60526028	20669182	13	42660											
SCN4A	6329	broad.mit.edu	37	chr17	62022892	62022892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcagtagtagaacttgccgGcaaacaggttgacacccatg	12	8	11	10	1	0	2	0	1	0	1	0	2	0	2	2	2	4	5	2	2	4	4			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr17:62022892G>A	ENST00000435607.1	-	19	3624	c.3548C>T	c.(3547-3549)gCc>gTc	p.A1183V	SCN4A_ENST00000578147.1_Missense_Mutation_p.A1183V	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	1183					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.A1183V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	GAACTTGCCGGCAAACAGGTT	0.542													A	62022892	G	A	62022892	3	1	435	1	0	0	0	0	1	0	0	0	14013	1203	42	2	1986	2	SCN4A	17	62022892	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08	1496864	62022892	19172318	14	42661											
COL6A1	1291	broad.mit.edu	37	chr21	47417371	47417371	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggacctaaaggctaccgaGgcgatgagggtcccccaggg	9	5	15	12	3	0	1	0	1	0	0	2	4	1	2	4	5	1	1	4	5	3	2			TCGA-DU-A7TG-01A-21D-A34J-08	TCGA-DU-A7TG-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	926f2cf8-a060-403b-9fc4-cbe215eadef2	5c0ba5c6-4188-4cfc-88e3-78ba50bca8b1	g.chr21:47417371G>A	ENST00000361866.3	+	21	1549	c.1435G>A	c.(1435-1437)Ggc>Agc	p.G479S		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	479	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	AGGCTACCGAGGCGATGAGGG	0.662													A	47417371	G	A	47417371	3	1	435	1	0	0	0	0	1	0	0	0	3730	1000	35	2	1517	2	COL6A1	21	47417371	Missense_Mutation	SNP	G	TCGA-DU-A7TG-01A-21D-A34J-08		47417371	712524	15	42662											
SPEN	23013	broad.mit.edu	37	chr1	16261678	16261678	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggccaacctggggtccacGctcacgccccaccaccctcc	6	4	8	23	3	1	0	1	0	0	0	3	0	3	0	9	3	1	1	9	3	1	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:16261678G>A	ENST00000375759.3	+	11	9147	c.8943G>A	c.(8941-8943)acG>acA	p.T2981T		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2981					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		TGGGGTCCACGCTCACGCCCC	0.597													A	16261678	G	A	16261678	2	1	436	1	0	0	0	0	0	0	0	1	15134	1074	38	1		1	SPEN	1	16261678	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		16261678	232988943	1	42663											
RPL5	6125	broad.mit.edu	37	chr1	93300378	93300378	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatatgatagtctgcgcaGcgtatgcacacgaactgcca	11	8	12	10	3	1	1	0	1	1	0	1	3	1	2	1	1	5	3	1	1	4	3			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:93300378G>C	ENST00000370321.3	+	4	322	c.232G>C	c.(232-234)Gcg>Ccg	p.A78P		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	78				A -> R (in Ref. 1; AAA85654).	endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGTCTGCGCAGCGTATGCACA	0.458													C	93300378	G	C	93300378	3	2	436	1	0	0	0	0	1	0	0	0	13688	971	34	4	246	4	RPL5	1	93300378	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	77038700	93300378	155950243	2	42664											
GSTM4	2948	broad.mit.edu	37	chr1	110201727	110201727	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggacttcatctcccgcTttgaggtgatgcccccatcc	7	11	9	14	1	2	3	1	3	1	0	4	4	3	4	4	2	1	1	4	2	1	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:110201727T>C	ENST00000369833.1	+	5	1353	c.439T>C	c.(439-441)Ttt>Ctt	p.F147L	GSTM4_ENST00000326729.5_Missense_Mutation_p.F188L|GSTM4_ENST00000495742.1_3'UTR|GSTM4_ENST00000336075.5_Missense_Mutation_p.F127L|GSTM4_ENST00000369836.4_Missense_Mutation_p.F188L			Q03013	GSTM4_HUMAN	glutathione S-transferase mu 4	188	GST C-terminal.				xenobiotic metabolic process	endoplasmic reticulum membrane	glutathione transferase activity			endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0123)|Colorectal(144;0.0129)|Epithelial(280;0.0147)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.0471)|LUSC - Lung squamous cell carcinoma(189;0.227)	Glutathione(DB00143)	CATCTCCCGCTTTGAGGTGAT	0.478													C	110201727	T	C	110201727	3	2	436	1	0	0	0	0	1	0	0	0	6895	1609	56	3	588	3	GSTM4	1	110201727	Missense_Mutation	SNP	T	TCGA-DU-A7TJ-01A-11D-A34J-08	16901349	110201727	139048894	3	42665											
CHIA	27159	broad.mit.edu	37	chr1	111861169	111861169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccagctgagaagctcatcGttggattccctacctatgga	10	10	9	12	1	1	1	1	1	0	1	3	4	2	3	3	2	3	3	3	2	3	4			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:111861169G>A	ENST00000369740.1	+	9	887	c.784G>A	c.(784-786)Gtt>Att	p.V262I	CHIA_ENST00000430615.1_Missense_Mutation_p.V154I|CHIA_ENST00000353665.6_Missense_Mutation_p.V101I|CHIA_ENST00000343320.6_Missense_Mutation_p.V262I|CHIA_ENST00000451398.2_Missense_Mutation_p.V101I|RP5-1125M8.2_ENST00000426321.1_RNA|CHIA_ENST00000483391.1_Missense_Mutation_p.V101I	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	262					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding	p.V154I(1)|p.V262I(1)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		GAAGCTCATCGTTGGATTCCC	0.537													A	111861169	G	A	111861169	3	1	436	1	0	0	0	0	1	0	0	0	3372	1145	40	1	814	1	CHIA	1	111861169	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	1659442	111861169	137389452	4	42666											
PTGFRN	5738	broad.mit.edu	37	chr1	117487662	117487662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcagggcaactggcaGgaaatccaagaaaaggccgt	14	3	14	10	2	0	1	0	0	0	1	1	3	1	2	3	4	2	3	3	4	5	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:117487662G>A	ENST00000393203.2	+	3	927	c.780G>A	c.(778-780)caG>caA	p.Q260Q		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	260	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		GCAACTGGCAGGAAATCCAAG	0.567													A	117487662	G	A	117487662	2	1	436	1	0	0	0	0	0	0	0	1	12836	991	35	2		2	PTGFRN	1	117487662	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	5626493	117487662	131762959	5	42667											
CRCT1	54544	broad.mit.edu	37	chr1	152487972	152487972	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggcgcccgcctcctcctcctCctgctgcggctccggcaggg	1	7	13	20	4	0	0	0	0	0	0	5	0	5	0	7	4	2	3	7	4	0	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:152487972C>G	ENST00000368790.3	+	2	186	c.113C>G	c.(112-114)tCc>tGc	p.S38C		NM_019060.2	NP_061933.1	Q9UGL9	CRCT1_HUMAN	cysteine-rich C-terminal 1	38										lung(1)|ovary(1)	2	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			tcctcctcctccTGCTGCGGC	0.736													G	152487972	C	G	152487972	3	3	436	1	0	0	0	0	1	0	0	0	3884	855	30	4	115	4	CRCT1	1	152487972	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	35000310	152487972	96762649	6	42668											
GON4L	54856	broad.mit.edu	37	chr1	155721974	155721974	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctcttgtcttcacccGagctctgcttgagggcagcc	4	12	10	15	1	4	1	1	1	3	0	5	2	4	1	3	1	3	3	3	1	0	3			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:155721974G>T	ENST00000437809.1	-	30	6369	c.6247C>A	c.(6247-6249)Cgg>Agg	p.R2083R	GON4L_ENST00000368331.1_Silent_p.R2084R|GON4L_ENST00000271883.5_Silent_p.R2083R	NM_001282856.1	NP_001269785.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	2084					regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	p.R2083W(1)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					GTCTTCACCCGAGCTCTGCTT	0.532													T	155721974	G	T	155721974	2	4	436	1	0	0	0	0	0	0	0	1	6625	1057	37	4		4	GON4L	1	155721974	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	3234002	155721974	93528647	7	42669											
TRIM17	51127	broad.mit.edu	37	chr1	228602614	228602614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagcccttccgcttccGcctccccttcttgcccctcg	3	10	8	20	3	1	0	0	0	1	0	5	2	4	1	8	1	2	1	8	1	1	4			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr1:228602614G>A	ENST00000366697.2	-	1	1116	c.160C>T	c.(160-162)Cgg>Tgg	p.R54W	TRIM17_ENST00000456946.2_Missense_Mutation_p.R54W|TRIM17_ENST00000366698.2_Missense_Mutation_p.R54W|TRIM17_ENST00000295033.3_Missense_Mutation_p.R54W			Q9Y577	TRI17_HUMAN	tripartite motif containing 17	54					protein autoubiquitination	intracellular	protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	10		Prostate(94;0.0724)				TTCCGCTTCCGCCTCCCCTTC	0.632													A	228602614	G	A	228602614	3	1	436	1	0	0	0	0	1	0	0	0	16594	1086	38	1	1446	1	TRIM17	1	228602614	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	72880640	228602614	20648007	8	42670											
MYO7B	4648	broad.mit.edu	37	chr2	128341727	128341727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgcatcaacttcgccaaCgagcacctgcagcagttctt	9	10	7	15	2	3	0	1	0	2	0	4	1	3	0	2	0	6	5	2	0	2	3			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:128341727C>T	ENST00000389524.4	+	13	1427	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N	MYO7B_ENST00000428314.1_Silent_p.N458N|MYO7B_ENST00000409816.2_Silent_p.N458N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	458	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		ACTTCGCCAACGAGCACCTGC	0.597													T	128341727	C	T	128341727	2	4	436	1	0	0	0	0	0	0	0	1	10159	535	19	1		1	MYO7B	2	128341727	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		128341727	114857646	9	42671											
MCM6	4175	broad.mit.edu	37	chr2	136622582	136622582	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acaaatggatggaattcttaCcatgtatagtagggaacagg	15	10	11	5	0	1	0	0	0	1	0	1	3	1	3	1	4	2	2	1	4	7	5			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:136622582C>G	ENST00000264156.2	-	7	1139		c.e7+1		MCM6_ENST00000492091.1_Splice_Site	NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6						cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	GGAATTCTTACCATGTATAGT	0.343													G	136622582	C	G	136622582	5	3	436	1	0	0	0	0	0	0	1	0	9466	521	18	4	1430	4	MCM6	2	136622582	Splice_Site	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	8280855	136622582	106576791	10	42672											
TTN	7273	broad.mit.edu	37	chr2	179453326	179453326	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttctccaattccaatttcAttttctgccttgacacggaa	9	15	6	11	1	3	1	1	1	2	0	5	2	4	2	3	2	1	1	3	2	3	6			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:179453326A>G	ENST00000589042.1	-	304	63350	c.63126T>C	c.(63124-63126)aaT>aaC	p.N21042N	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.N12102N|TTN_ENST00000460472.2_Silent_p.N11977N|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.N12169N|TTN_ENST00000591111.1_Silent_p.N19401N|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.N18474N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19401	Fibronectin type-III 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCAATTTCATTTTCTGCCT	0.453													G	179453326	A	G	179453326	2	3	436	1	0	0	0	0	0	0	0	1	16837	214	8	3		3	TTN	2	179453326	Silent	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08	42830744	179453326	63746047	11	42673											
CHRNG	1146	broad.mit.edu	37	chr2	233409542	233409542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctgaagcaggctgccccagCcatccaggcctgtgtggaag	8	6	13	14	0	0	1	0	1	0	0	1	2	1	2	6	3	3	2	6	3	2	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr2:233409542C>A	ENST00000389494.3	+	11	1331	c.1310C>A	c.(1309-1311)gCc>gAc	p.A437D	CHRNG_ENST00000389492.3_Missense_Mutation_p.A385D	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	437					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		GCTGCCCCAGCCATCCAGGCC	0.572													A	233409542	C	A	233409542	3	1	436	1	0	0	0	0	1	0	0	0	3426	739	26	4	1352	4	CHRNG	2	233409542	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	53956216	233409542	9789831	12	42674											
CCDC37	348807	broad.mit.edu	37	chr3	126137511	126137511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagacgctggcgaccaaaGaggaggccaggctggagcgg	10	3	19	9	3	0	2	0	0	0	2	0	6	0	4	2	7	1	2	2	7	1	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr3:126137511G>C	ENST00000393425.1	+	7	646	c.547G>C	c.(547-549)Gag>Cag	p.E183Q	CCDC37_ENST00000505024.1_Missense_Mutation_p.E183Q|CCDC37_ENST00000352312.1_Missense_Mutation_p.E182Q			Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	182										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		GGCGACCAAAGAGGAGGCCAG	0.647													C	126137511	G	C	126137511	3	2	436	1	0	0	0	0	1	0	0	0	2836	943	33	4	566	4	CCDC37	3	126137511	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		126137511	71884919	13	42675											
GABRA4	2557	broad.mit.edu	37	chr4	46967202	46967202	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttgggcaaagaatgtcGtgcactgatgcttagtgtgg	9	12	13	7	1	0	2	0	1	0	1	1	2	0	2	0	2	2	3	0	2	3	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr4:46967202G>A	ENST00000264318.3	-	8	1901	c.919C>T	c.(919-921)Cga>Tga	p.R307*		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	307					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAAGAATGTCGTGCACTGATG	0.433													A	46967202	G	A	46967202	4	1	436	1	0	0	0	0	0	1	0	0	6215	1153	40	1	753	1	GABRA4	4	46967202	Nonsense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		46967202	144187074	14	42676											
ADH1C	126	broad.mit.edu	37	chr4	100257916	100257916	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgtattgtttcaaaacGtcaggacggtacggatactg	11	12	10	8	3	3	0	2	0	1	0	3	2	3	2	0	3	3	3	0	3	5	5			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr4:100257916G>A	ENST00000515683.1	-	0	1472					NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	GTTTCAAAACGTCAGGACGGT	0.423													A	100257916	G	A	100257916	1	1	436	0	1	0	0	0	0	0	0	0	309	1145	40	1		1	ADH1C	4	100257916	RNA	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	53290714	100257916	90896360	15	42677											
ACTBL2	345651	broad.mit.edu	37	chr5	56777838	56777838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgttccggtgaggaggatgCggctgccctgaccatctcct	5	9	13	14	3	1	2	0	2	1	0	3	4	2	4	5	4	2	2	5	4	0	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:56777838C>T	ENST00000423391.1	-	1	798	c.697G>A	c.(697-699)Gca>Aca	p.A233T	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	233						cytoplasm|cytoskeleton	ATP binding	p.A233T(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		GAGGAGGATGCGGCTGCCCTG	0.547													T	56777838	C	T	56777838	3	4	436	1	0	0	0	0	1	0	0	0	194	768	27	1	437	1	ACTBL2	5	56777838	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		56777838	124137422	16	42678											
PIK3R1	5295	broad.mit.edu	37	chr5	67591150	67591151	+	Splice_Site	DEL	GA	GA	-																															aagacgagagaccaatacttGatgtaagtatttgaaatgga																										TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:67591150_67591151delGA	ENST00000521381.1	+	13	2359_2360	c.1743_1744delGA	c.(1741-1746)ttgatg>tttg	p.LM581fs	PIK3R1_ENST00000336483.5_Splice_Site_p.LM311fs|PIK3R1_ENST00000521657.1_Splice_Site_p.LM581fs|PIK3R1_ENST00000523872.1_Splice_Site_p.LM218fs|PIK3R1_ENST00000274335.5_Splice_Site_p.LM581fs|PIK3R1_ENST00000320694.8_Splice_Site_p.LM281fs|PIK3R1_ENST00000396611.1_Splice_Site_p.LM581fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	581					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACCAATACTTGATGTAAGTATT	0.376			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591151	GA	-	67591150	8	5	436	1	0	1	0	1	0	0	1	0	11995	1281	45	0	1919	0	PIK3R1	5	67591150	Splice_Site	DEL	GA	TCGA-DU-A7TJ-01A-11D-A34J-08	10813312	67591150	113324110	17	42679	140	2									
PIK3R1	5295	broad.mit.edu	37	chr5	67591153	67591153	+	Splice_Site	DEL	G	G	-																															acgagagaccaatacttgatGtaagtatttgaaatggaatc																										TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr5:67591153delG	ENST00000521381.1	+	13	2361		c.e13+1		PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R577_M582>K(1)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AATACTTGATGTAAGTATTTG	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591153	G	-	67591153	8	5	436	1	0	1	0	1	0	0	1	0	11995	1391	48	0	1922	0	PIK3R1	5	67591153	Splice_Site	DEL	G	TCGA-DU-A7TJ-01A-11D-A34J-08	3	67591153	113324107	18	42680	140	2									
TRIM15	89870	broad.mit.edu	37	chr6	30136149	30136149	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaggagctggagcagcagCgatgtctcctgctggccagg	8	6	16	11	1	1	0	0	0	1	0	2	3	1	2	2	4	6	5	2	4	0	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:30136149C>T	ENST00000376694.4	+	3	1019	c.550C>T	c.(550-552)Cga>Tga	p.R184*	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	184					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GGAGCAGCAGCGATGTCTCCT	0.527													T	30136149	C	T	30136149	4	4	436	1	0	0	0	0	0	1	0	0	16591	760	27	1	560	1	TRIM15	6	30136149	Nonsense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		30136149	140978918	19	42681											
NOTCH4	4855	broad.mit.edu	37	chr6	32181593	32181593	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccctgagtgacaagctGtcatctcctcactacaggtg	9	10	10	12	0	3	2	2	2	1	0	4	2	3	2	2	2	2	1	2	2	2	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:32181593G>T	ENST00000375023.3	-	14	2330	c.2192C>A	c.(2191-2193)aCa>aAa	p.T731K	NOTCH4_ENST00000465528.1_5'UTR	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	731	EGF-like 19.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGACAAGCTGTCATCTCCTC	0.597													T	32181593	G	T	32181593	3	4	436	1	0	0	0	0	1	0	0	0	10627	1377	48	4	3887	4	NOTCH4	6	32181593	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	2045444	32181593	138933474	20	42682											
KIAA0408	9729	broad.mit.edu	37	chr6	127771491	127771491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccaaagctttacttcccGgcaaagctgtaagaaaaaca	15	8	6	12	1	0	1	0	0	0	1	2	1	2	1	3	1	4	4	3	1	6	4			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr6:127771491G>A	ENST00000483725.3	-	3	478	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	SOGA3_ENST00000556132.1_3'UTR|SOGA3_ENST00000481848.2_3'UTR|SOGA3_ENST00000368268.2_3'UTR	NM_014702.4	NP_055517.3	Q6ZU52	K0408_HUMAN	KIAA0408	48							protein binding			endometrium(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|skin(1)	28				GBM - Glioblastoma multiforme(226;0.0217)|all cancers(137;0.13)		TTTACTTCCCGGCAAAGCTGT	0.338													A	127771491	G	A	127771491	3	1	436	1	0	0	0	0	1	0	0	0	8232	1115	39	1	1958	1	KIAA0408	6	127771491	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	95589898	127771491	43343576	21	42683											
TMEM130	222865	broad.mit.edu	37	chr7	98453658	98453658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcagcttcagcgaggCggagaagtccccggtcttct	7	8	12	14	3	3	1	1	0	2	1	4	3	4	1	3	3	3	2	3	3	1	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr7:98453658C>T	ENST00000450876.1	-	4	1763	c.448G>A	c.(448-450)Gcc>Acc	p.A150T	TMEM130_ENST00000546258.1_Missense_Mutation_p.A215T|TMEM130_ENST00000416379.2_Missense_Mutation_p.A234T|TMEM130_ENST00000345589.4_Missense_Mutation_p.A132T|TMEM130_ENST00000339375.4_Missense_Mutation_p.A234T			Q8N3G9	TM130_HUMAN	transmembrane protein 130	234	PKD.					Golgi membrane|integral to membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	25	all_cancers(62;4.05e-09)|all_epithelial(64;2.62e-09)|Lung NSC(181;0.01)|all_lung(186;0.0115)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCAGCGAGGCGGAGAAGTCC	0.632													T	98453658	C	T	98453658	3	4	436	1	0	0	0	0	1	0	0	0	16143	768	27	1	627	1	TMEM130	7	98453658	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		98453658	60685005	22	42684											
SLC26A3	1811	broad.mit.edu	37	chr7	107427813	107427813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcaattaccataatgaattCgattggaatgggcactggaa	15	11	9	6	1	1	1	1	1	0	0	2	4	1	3	1	3	1	1	1	3	6	4			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr7:107427813C>T	ENST00000340010.5	-	7	1061	c.877G>A	c.(877-879)Gaa>Aaa	p.E293K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.E258K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	293					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ATAATGAATTCGATTGGAATG	0.378													T	107427813	C	T	107427813	3	4	436	1	0	0	0	0	1	0	0	0	14612	893	31	1	1477	1	SLC26A3	7	107427813	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	8974155	107427813	51710850	23	42685											
PCSK5	5125	broad.mit.edu	37	chr9	78943064	78943064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgggatgaggatgctccCgggtgcaagccctgccatgt	7	9	14	11	1	0	1	0	1	0	0	1	3	1	3	3	3	5	2	3	3	2	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:78943064C>T	ENST00000545128.1	+	32	4936	c.4398C>T	c.(4396-4398)ccC>ccT	p.P1466P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	633					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGGATGCTCCCGGGTGCAAGC	0.582													T	78943064	C	T	78943064	2	4	436	1	0	0	0	0	0	0	0	1	11679	667	23	1		1	PCSK5	9	78943064	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		78943064	62270367	24	42686											
C9orf3	84909	broad.mit.edu	37	chr9	97844955	97844955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggaccaaggagcagatGgataggtcctcagcccaggt	11	5	15	10	1	1	1	1	0	0	1	2	5	2	4	3	5	3	1	3	5	2	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:97844955G>A	ENST00000375315.2	+	15	2418	c.2418G>A	c.(2416-2418)atG>atA	p.M806I	C9orf3_ENST00000297979.5_Missense_Mutation_p.M707I|C9orf3_ENST00000433691.2_Missense_Mutation_p.M147I|C9orf3_ENST00000425634.2_Missense_Mutation_p.M168I	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	806					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		AGGAGCAGATGGATAGGTCCT	0.527													A	97844955	G	A	97844955	3	1	436	1	0	0	0	0	1	0	0	0	2503	1348	47	2	2171	2	C9orf3	9	97844955	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	18901891	97844955	43368476	25	42687											
ZNF618	114991	broad.mit.edu	37	chr9	116798603	116798603	+	Frame_Shift_Del	DEL	G	G	-																															cctacacctgcggcgcctgtGggatccagttccagttctac																										TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:116798603delG	ENST00000288466.7	+	12	1012	c.913delG	c.(913-915)gggfs	p.G305fs	ZNF618_ENST00000374126.5_Frame_Shift_Del_p.G398fs|ZNF618_ENST00000470105.1_3'UTR	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CGGCGCCTGTGGGATCCAGTT	0.587													-	116798603	G	-	116798603	7	5	436	1	0	1	0	1	0	0	0	0	18143	1348	47	0	959	0	ZNF618	9	116798603	Frame_Shift_Del	DEL	G	TCGA-DU-A7TJ-01A-11D-A34J-08	18953648	116798603	24414828	26	42688											
OR1N1	138883	broad.mit.edu	37	chr9	125289050	125289050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagtgatgtcacagaaaaAgtgagcaatttccccagtca	15	8	10	8	0	2	3	2	2	0	1	3	4	3	4	2	1	1	1	2	1	3	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:125289050A>G	ENST00000304880.2	-	1	522	c.523T>C	c.(523-525)Ttt>Ctt	p.F175L		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						TCACAGAAAAAGTGAGCAATT	0.502													G	125289050	A	G	125289050	3	3	436	1	0	0	0	0	1	0	0	0	11045	72	3	3	416	3	OR1N1	9	125289050	Missense_Mutation	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08	8490447	125289050	15924381	27	42689											
OR5C1	392391	broad.mit.edu	37	chr9	125551964	125551964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttcccacctcacagcCgtggccatgatgtacgggac	7	8	13	13	2	1	1	1	1	0	0	2	2	2	2	4	4	2	2	4	4	1	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:125551964C>T	ENST00000373680.2	+	1	815	c.753C>T	c.(751-753)gcC>gcT	p.A251A		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ACCTCACAGCCGTGGCCATGA	0.597													T	125551964	C	T	125551964	2	4	436	1	0	0	0	0	0	0	0	1	11229	639	23	1		1	OR5C1	9	125551964	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	262914	125551964	15661467	28	42690											
CACNA1B	774	broad.mit.edu	37	chr9	140964211	140964211	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaacatcacatgtaggAaacggttggtttcacgactc	14	10	9	8	2	2	1	2	1	0	0	3	3	2	2	0	3	2	3	0	3	4	3			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr9:140964211A>T	ENST00000371372.1	+	32	4815	c.4670A>T	c.(4669-4671)gAa>gTa	p.E1557V	CACNA1B_ENST00000371355.4_Intron|CACNA1B_ENST00000371357.1_Intron|CACNA1B_ENST00000277549.5_Intron|CACNA1B_ENST00000277551.2_Splice_Site_p.E1557V|CACNA1B_ENST00000371363.1_Intron	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1557					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CACATGTAGGAAACGGTTGGT	0.488													T	140964211	A	T	140964211	5	4	436	1	0	0	0	0	0	0	1	0	2565	261	9	5		5	CACNA1B	9	140964211	Splice_Site	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08	15412247	140964211	249220	29	42691											
OR9G4	283189	broad.mit.edu	37	chr11	56510346	56510346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttgctttcctgaaggcCtctttgatatctttgtttct	4	21	8	8	0	3	2	0	2	3	0	4	2	4	2	2	1	1	3	2	1	2	6			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr11:56510346C>A	ENST00000302957.3	-	1	941	c.942G>T	c.(940-942)gaG>gaT	p.E314D		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	314					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TCCTGAAGGCCTCTTTGATAT	0.408													A	56510346	C	A	56510346	3	1	436	1	0	0	0	0	1	0	0	0	11327	680	24	4	44	4	OR9G4	11	56510346	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		56510346	78496170	30	42692											
OR10G8	219869	broad.mit.edu	37	chr11	123901065	123901065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgcctcccactgtatcGtggtcctttgcttctttggc	2	16	9	14	1	1	0	0	0	1	0	4	0	3	0	4	2	2	2	4	2	1	4			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr11:123901065G>A	ENST00000431524.1	+	1	769	c.736G>A	c.(736-738)Gtg>Atg	p.V246M		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		CCACTGTATCGTGGTCCTTTG	0.542													A	123901065	G	A	123901065	3	1	436	1	0	0	0	0	1	0	0	0	10979	1145	40	1	738	1	OR10G8	11	123901065	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	67390719	123901065	11105451	31	42693											
ETNK1	55500	broad.mit.edu	37	chr12	22778194	22778194	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccagacccggatcggcAacagtgccgcctccagacgt	8	6	11	16	4	0	2	0	0	0	2	3	3	2	3	5	2	2	1	5	2	1	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr12:22778194A>G	ENST00000266517.4	+	1	186	c.97A>G	c.(97-99)Aac>Gac	p.N33D	ETNK1_ENST00000335148.3_Missense_Mutation_p.N33D	NM_018638.4	NP_061108.2	Q9HBU6	EKI1_HUMAN	ethanolamine kinase 1	33					phosphatidylethanolamine biosynthetic process	cytoplasm	ATP binding|ethanolamine kinase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CCGGATCGGCAACAGTGCCGC	0.711													G	22778194	A	G	22778194	3	3	436	1	0	0	0	0	1	0	0	0	5314	130	5	3	99	3	ETNK1	12	22778194	Missense_Mutation	SNP	A	TCGA-DU-A7TJ-01A-11D-A34J-08		22778194	111073701	32	42694											
MTUS2	23281	broad.mit.edu	37	chr13	29600875	29600875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccatgcctcttccccaCgaagagaaggcagcaggtgg	10	7	12	12	1	1	1	0	0	1	1	2	3	2	1	4	3	3	3	4	3	3	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr13:29600875C>T	ENST00000431530.3	+	1	2128	c.2070C>T	c.(2068-2070)caC>caT	p.H690H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	680	Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CTCTTCCCCACGAAGAGAAGG	0.582													T	29600875	C	T	29600875	2	4	436	1	0	0	0	0	0	0	0	1	10042	535	19	1		1	MTUS2	13	29600875	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		29600875	85569003	33	42695											
TNFSF13B	10673	broad.mit.edu	37	chr13	108922745	108922745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcagaacagcagaaataagCgtgccgttcagggtccagaa	14	6	12	9	2	2	3	2	0	0	3	3	3	3	3	2	1	4	2	2	1	4	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr13:108922745C>T	ENST00000375887.4	+	2	575	c.397C>T	c.(397-399)Cgt>Tgt	p.R133C	TNFSF13B_ENST00000542136.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.R133C|TNFSF13B_ENST00000479435.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	133		Cleavage.			cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)			CAGAAATAAGCGTGCCGTTCA	0.463													T	108922745	C	T	108922745	3	4	436	1	0	0	0	0	1	0	0	0	16406	768	27	1	403	1	TNFSF13B	13	108922745	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08	79321870	108922745	6247133	34	42696											
OR4K13	390433	broad.mit.edu	37	chr14	20502653	20502653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatgagatggtcttacGttctcggaggaaatctacaa	12	10	9	10	2	3	1	0	1	3	1	4	4	3	3	2	3	2	1	2	3	4	3	rs149397731	byFrequency	TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr14:20502653G>A	ENST00000315693.2	-	1	266	c.265C>T	c.(265-267)Cgt>Tgt	p.R89C		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	89					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		ATGGTCTTACGTTCTCGGAGG	0.453													A	20502653	G	A	20502653	3	1	436	1	0	0	0	0	1	0	0	0	11144	1145	40	1	651	1	OR4K13	14	20502653	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		20502653	86846887	35	42697											
MEIS2	4212	broad.mit.edu	37	chr15	37186973	37186973	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttacatgtagtgccattgCccatccatgcccatattcat	9	13	7	12	0	1	0	1	0	0	0	2	0	2	0	4	1	4	2	4	1	3	5			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr15:37186973C>T	ENST00000444725.1	-	12	2203	c.1167G>A	c.(1165-1167)ggG>ggA	p.G389G	MEIS2_ENST00000340545.5_Silent_p.G376G|MEIS2_ENST00000338564.5_Intron|MEIS2_ENST00000397620.2_Silent_p.G301G|MEIS2_ENST00000219869.9_Silent_p.G250G|MEIS2_ENST00000557796.2_Silent_p.G376G|MEIS2_ENST00000382766.2_Intron|MEIS2_ENST00000397624.3_Silent_p.G301G|MEIS2_ENST00000559085.1_Silent_p.G383G|MEIS2_ENST00000559561.1_Silent_p.G389G|MEIS2_ENST00000424352.2_Silent_p.G396G|MEIS2_ENST00000561208.1_Intron	NM_170674.4|NM_170677.4	NP_733774.1|NP_733777.1	O14770	MEIS2_HUMAN	Meis homeobox 2	396					negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		AGTGCCATTGCCCATCCATGC	0.438													T	37186973	C	T	37186973	2	4	436	1	0	0	0	0	0	0	0	1	9543	726	26	2		2	MEIS2	15	37186973	Silent	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		37186973	65344419	36	42698											
CRAMP1L	57585	broad.mit.edu	37	chr16	1715128	1715128	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttctccatcctgtctaactCttccgtaactggtaaggacc	8	13	6	14	1	3	0	0	0	3	0	6	1	5	1	4	2	2	2	4	2	3	5			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr16:1715128C>G	ENST00000397412.3	+	14	2840	c.2741C>G	c.(2740-2742)tCt>tGt	p.S914C	LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S914C|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S911C|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S292C			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	914						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						CTGTCTAACTCTTCCGTAACT	0.507													G	1715128	C	G	1715128	3	3	436	1	0	0	0	0	1	0	0	0	3877	913	32	4	2791	4	CRAMP1L	16	1715128	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		1715128	88639625	37	42699											
ARHGAP27	201176	broad.mit.edu	37	chr17	43475375	43475375	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgatggcctccgagtcGtgctggatcaggtactcaga	8	10	13	10	2	2	3	2	2	0	1	4	5	3	4	2	3	2	2	2	3	1	1	rs138914274		TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:43475375G>A	ENST00000532038.1	-	9	1251	c.1116C>T	c.(1114-1116)caC>caT	p.H372H	ARHGAP27_ENST00000376922.2_Silent_p.H253H|ARHGAP27_ENST00000442348.1_Silent_p.H567H|ARHGAP27_ENST00000455881.1_Silent_p.H253H|ARHGAP27_ENST00000532891.2_Silent_p.H572H|ARHGAP27_ENST00000528384.1_Silent_p.H226H|ARHGAP27_ENST00000428638.1_Silent_p.H594H|ARHGAP27_ENST00000582826.1_5'UTR			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	594					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					CCTCCGAGTCGTGCTGGATCA	0.632													A	43475375	G	A	43475375	2	1	436	1	0	0	0	0	0	0	0	1	879	1136	40	1		1	ARHGAP27	17	43475375	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		43475375	37719835	38	42700											
IGF2BP1	10642	broad.mit.edu	37	chr17	47120867	47120867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccagcgcagtcccgccGcctcccagcagcgttactgg	6	7	10	18	4	1	0	1	0	0	0	4	0	4	0	5	1	4	3	5	1	1	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:47120867G>A	ENST00000290341.3	+	10	1489	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P	IGF2BP1_ENST00000431824.2_Silent_p.P246P	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	385	Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						CAGTCCCGCCGCCTCCCAGCA	0.572													A	47120867	G	A	47120867	2	1	436	1	0	0	0	0	0	0	0	1	7631	1074	38	1		1	IGF2BP1	17	47120867	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	3645492	47120867	34074343	39	42701											
USP36	57602	broad.mit.edu	37	chr17	76803536	76803536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccttctttccagggtcGtctaggatggttggcatgtg	5	15	12	9	1	3	0	1	0	2	0	5	1	4	1	2	4	0	2	2	4	1	5			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr17:76803536G>A	ENST00000542802.3	-	14	2033	c.1590C>T	c.(1588-1590)gaC>gaT	p.D530D	USP36_ENST00000449938.2_Silent_p.D230D|USP36_ENST00000312010.6_Silent_p.D530D			Q9P275	UBP36_HUMAN	ubiquitin specific peptidase 36						ubiquitin-dependent protein catabolic process	nucleolus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	34			BRCA - Breast invasive adenocarcinoma(99;0.000842)|OV - Ovarian serous cystadenocarcinoma(97;0.151)			TTCCAGGGTCGTCTAGGATGG	0.587													A	76803536	G	A	76803536	2	1	436	1	0	0	0	0	0	0	0	1	17169	1136	40	1		1	USP36	17	76803536	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	29682669	76803536	4391674	40	42702											
LPIN2	9663	broad.mit.edu	37	chr18	2951271	2951271	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtgtttcatctccacccgaTttcaccaaaggggtgtcaat	9	12	9	11	1	4	0	3	0	1	0	5	1	4	0	3	3	0	1	3	3	2	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr18:2951271T>C	ENST00000261596.4	-	4	610	c.372A>G	c.(370-372)aaA>aaG	p.K124K	RP11-737O24.2_ENST00000584431.1_RNA	NM_014646.2	NP_055461.1	Q92539	LPIN2_HUMAN	lipin 2	124					fatty acid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|triglyceride biosynthetic process	cytosol|endoplasmic reticulum membrane|nucleus	phosphatidate phosphatase activity|transcription coactivator activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	29				READ - Rectum adenocarcinoma(2;0.0419)|Colorectal(6;0.156)		CTCCACCCGATTTCACCAAAG	0.413													C	2951271	T	C	2951271	2	2	436	1	0	0	0	0	0	0	0	1	8989	1490	52	3		3	LPIN2	18	2951271	Silent	SNP	T	TCGA-DU-A7TJ-01A-11D-A34J-08		2951271	75125977	41	42703											
EID2B	126272	broad.mit.edu	37	chr19	40023046	40023046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctgcgggggatccgcgtCaaaggctgcttccctcgcct	5	9	12	15	4	2	0	1	0	1	0	5	1	4	1	3	3	2	2	3	3	1	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr19:40023046C>G	ENST00000326282.4	-	1	448	c.397G>C	c.(397-399)Gac>Cac	p.D133H	EID2B_ENST00000601837.1_Intron	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	133					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGATCCGCGTCAAAGGCTGCT	0.602													G	40023046	C	G	40023046	3	3	436	1	0	0	0	0	1	0	0	0	5027	826	29	4	92	4	EID2B	19	40023046	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		40023046	19105937	42	42704											
ZSCAN22	342945	broad.mit.edu	37	chr19	58846117	58846117	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagctctgacattcctgcaGgcccagttccaaggctccgg	8	8	11	14	1	1	1	0	1	1	0	4	2	4	1	4	3	2	4	4	3	2	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr19:58846117G>T	ENST00000329665.4	+	2	96		c.e2-1			NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		CATTCCTGCAGGCCCAGTTCC	0.597													T	58846117	G	T	58846117	5	4	436	1	0	0	0	0	0	0	1	0	18332	1014	35	4		4	ZSCAN22	19	58846117	Splice_Site	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	18823071	58846117	282866	43	42705											
SPEF1	25876	broad.mit.edu	37	chr20	3760357	3760357	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgctggagagagttggCggggacataattgtgcatct	8	12	14	7	1	2	1	0	0	2	1	2	4	2	3	0	4	2	3	0	4	1	4			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:3760357C>T	ENST00000379756.3	-	2	335	c.175G>A	c.(175-177)Gcc>Acc	p.A59T	SPEF1_ENST00000463490.1_5'UTR	NM_015417.4	NP_056232.2	Q9Y4P9	SPEF1_HUMAN	sperm flagellar 1	59						cilium axoneme|cytoplasm|cytoskeleton				cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	8						AGAGAGTTGGCGGGGACATAA	0.537													T	3760357	C	T	3760357	3	4	436	1	0	0	0	0	1	0	0	0	15130	768	27	1	559	1	SPEF1	20	3760357	Missense_Mutation	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		3760357	59265163	44	42706											
PXMP4	11264	broad.mit.edu	37	chr20	32308005	32308005	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagcccttagctgcggcggGgctgccatagtgcgggctgc	5	7	17	12	3	0	1	0	0	0	1	0	1	0	1	2	4	6	3	2	4	2	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:32308005G>C	ENST00000409299.3	-	1	101	c.9C>G	c.(7-9)gcC>gcG	p.A3A	PXMP4_ENST00000344022.3_Silent_p.A3A|PXMP4_ENST00000217398.3_Silent_p.A3A	NM_007238.4	NP_009169.3	Q9Y6I8	PXMP4_HUMAN	peroxisomal membrane protein 4, 24kDa	3						integral to membrane|membrane fraction|mitochondrial inner membrane|peroxisomal membrane	protein transporter activity			NS(1)|endometrium(2)|large_intestine(2)|lung(8)	13						GCTGCGGCGGGGCTGCCATAG	0.682													C	32308005	G	C	32308005	2	2	436	1	0	0	0	0	0	0	0	1	12939	1219	43	4		4	PXMP4	20	32308005	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	28547648	32308005	30717515	45	42707											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	15	1	12	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547													A	46279833	G	A	46279833	2	1	436	1	0	0	0	0	0	0	0	1	10306	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	13971828	46279833	16745687	46	42708											
BAGE2	85319	broad.mit.edu	37	chr21	11098794	11098794	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcctaacactccagctgCgctgccatctctgttgccac	6	10	6	19	1	1	0	0	0	1	0	4	0	3	0	5	0	5	3	5	0	1	2			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr21:11098794C>T	ENST00000470054.1	-	0	131									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		actccagctgcgctgccatct	0.627													T	11098794	C	T	11098794	1	4	436	0	1	0	0	0	0	0	0	0	1297	783	27	1		1	BAGE2	21	11098794	RNA	SNP	C	TCGA-DU-A7TJ-01A-11D-A34J-08		11098794	37031101	47	42709											
PFKL	5211	broad.mit.edu	37	chr21	45732145	45732145	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacatcttccgcagcgagtGgggcagcctgctggaggagc	8	6	15	12	2	1	0	0	0	1	0	2	3	2	2	2	4	5	3	2	4	1	1			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr21:45732145G>A	ENST00000403390.1	+	5	536	c.536G>A	c.(535-537)tGg>tAg	p.W179*	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Nonsense_Mutation_p.W132*			P17858	K6PL_HUMAN	phosphofructokinase, liver	132					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CGCAGCGAGTGGGGCAGCCTG	0.662													A	45732145	G	A	45732145	4	1	436	1	0	0	0	0	0	1	0	0	11841	1357	47	2	409	2	PFKL	21	45732145	Nonsense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	34633351	45732145	2397750	48	42710											
PPIL2	23759	broad.mit.edu	37	chr22	22024879	22024879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacaaacaaattttcgtcGtttaccttttgaccactgca	11	13	4	13	2	0	1	0	1	0	0	2	1	0	1	3	0	3	2	3	0	3	6			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chr22:22024879G>A	ENST00000335025.8	+	3	198	c.107G>A	c.(106-108)cGt>cAt	p.R36H	PPIL2_ENST00000492445.2_Missense_Mutation_p.R36H|PPIL2_ENST00000412327.1_Missense_Mutation_p.R36H|PPIL2_ENST00000406385.1_Missense_Mutation_p.R36H|PPIL2_ENST00000456792.2_Missense_Mutation_p.R36H|PPIL2_ENST00000398831.3_Missense_Mutation_p.R36H			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2						blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					AATTTTCGTCGTTTACCTTTT	0.373													A	22024879	G	A	22024879	3	1	436	1	0	0	0	0	1	0	0	0	12409	1145	40	1	117	1	PPIL2	22	22024879	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08		22024879	29279687	49	42711											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													TAT	49208296	-	TAT	49208295	7	5	436	1	0	1	1	0	0	0	0	0	6246	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-DU-A7TJ-01A-11D-A34J-08		49208295	106062265	50	42712											
GPC3	2719	broad.mit.edu	37	chrX	132888183	132888183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgtagttcttggcatggcGaacaacaatttcaaaggcct	11	11	11	8	1	2	0	1	0	1	0	2	1	2	0	1	4	2	3	1	4	5	4			TCGA-DU-A7TJ-01A-11D-A34J-08	TCGA-DU-A7TJ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e423faad-225f-4505-b3ae-0b142263357d	06cf2071-92a5-4732-a699-a6d86bd996b0	g.chrX:132888183G>A	ENST00000370818.3	-	3	803	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GPC3_ENST00000543339.1_Missense_Mutation_p.R66C|GPC3_ENST00000394299.2_Missense_Mutation_p.R120C	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	120						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					TTGGCATGGCGAACAACAATT	0.363			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				A	132888183	G	A	132888183	3	1	436	1	0	0	0	0	1	0	0	0	6653	1058	37	1	1481	1	GPC3	23	132888183	Missense_Mutation	SNP	G	TCGA-DU-A7TJ-01A-11D-A34J-08	83679888	132888183	22382377	51	42713											
MIB2	142678	broad.mit.edu	37	chr1	1563188	1563188	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgggccctgtgtgagcgCggctgtgacgtcaacctgcc	4	8	16	13	4	1	2	1	2	0	0	1	2	1	2	3	2	4	1	3	2	1	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1563188C>T	ENST00000357210.4	+	13	2049	c.1833C>T	c.(1831-1833)cgC>cgT	p.R611R	MIB2_ENST00000355826.5_Silent_p.R654R|MIB2_ENST00000505820.2_Silent_p.R668R|MIB2_ENST00000360522.4_Silent_p.R576R|MIB2_ENST00000504599.1_Silent_p.R567R|MIB2_ENST00000378712.1_Silent_p.R488R|MIB2_ENST00000518681.1_Silent_p.R603R|MIB2_ENST00000378710.3_Silent_p.R575R|MIB2_ENST00000520777.1_Silent_p.R664R|MIB2_ENST00000378708.1_Silent_p.R517R	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	611					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TGTGTGAGCGCGGCTGTGACG	0.692													T	1563188	C	T	1563188	2	4	437	1	0	0	0	0	0	0	0	1	9642	755	27	1		1	MIB2	1	1563188	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08		1563188	247687433	1	42714											
CDK11B	984	broad.mit.edu	37	chr1	1586881	1586881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttattgtgatctccatgcGgtgatctctcagctccccct	5	14	7	15	1	3	2	1	2	2	0	6	2	4	2	4	1	2	1	4	1	1	2	rs139684849	by1000genomes	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:1586881G>A	ENST00000407249.3	-	2	168	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	CDK11B_ENST00000317673.7_Missense_Mutation_p.R57C|CDK11B_ENST00000341832.6_Missense_Mutation_p.R23C|CDK11B_ENST00000340677.5_Missense_Mutation_p.R57C			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	57			R -> C (in dbSNP:rs17424353).		apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						atctccatgcggtgatctctc	0.463													A	1586881	G	A	1586881	3	1	437	1	0	0	0	0	1	0	0	0	3157	1131	39	1		1	CDK11B	1	1586881	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	23693	1586881	247663740	2	42715											
HMGN2	3151	broad.mit.edu	37	chr1	26800580	26800580	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgccaaaaaaagaaacCtgctcctccaaagccagagc	15	6	6	14	0	0	2	0	0	0	2	3	2	3	2	6	0	5	1	6	0	5	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:26800580C>A	ENST00000361427.5	+	4	189	c.95C>A	c.(94-96)cCt>cAt	p.P32H	HMGN2_ENST00000493418.1_3'UTR	NM_005517.3	NP_005508.1	P05204	HMGN2_HUMAN	high mobility group nucleosomal binding domain 2	32					chromatin organization|regulation of transcription, DNA-dependent	chromatin|cytoplasm|nucleus	DNA binding|protein binding			breast(1)|lung(2)	3		all_cancers(24;1.9e-24)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.38e-49)|OV - Ovarian serous cystadenocarcinoma(117;5.38e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000946)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.026)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.153)|LUSC - Lung squamous cell carcinoma(448;0.227)		AAAAAGAAACCTGCTCCTCCA	0.443													A	26800580	C	A	26800580	3	1	437	1	0	0	0	0	1	0	0	0	7290	681	24	4	109	4	HMGN2	1	26800580	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	25213699	26800580	222450041	3	42716											
ODF2L	57489	broad.mit.edu	37	chr1	86820356	86820356	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagctctttattttctgCgtccatctgttctaattttc	6	20	4	11	1	5	0	1	0	4	0	7	0	6	0	1	0	2	2	1	0	3	8			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:86820356C>A	ENST00000359242.3	-	16	1905	c.1624G>T	c.(1624-1626)Gca>Tca	p.A542S	ODF2L_ENST00000294678.2_Missense_Mutation_p.A526S|ODF2L_ENST00000394731.1_Missense_Mutation_p.A382S|ODF2L_ENST00000317336.7_Missense_Mutation_p.A542S|ODF2L_ENST00000370567.1_Missense_Mutation_p.A513S|ODF2L_ENST00000370566.3_Missense_Mutation_p.A460S	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	542						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		TTATTTTCTGCGTCCATCTGT	0.313													A	86820356	C	A	86820356	3	1	437	1	0	0	0	0	1	0	0	0	10904	768	27	4	431	4	ODF2L	1	86820356	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	60019776	86820356	162430265	4	42717											
HCN3	57657	broad.mit.edu	37	chr1	155257756	155257756	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagccactggtacatgcGccccttcaggcagctgctgt	6	9	13	13	1	1	0	1	0	0	0	1	1	1	1	3	3	5	4	3	3	1	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:155257756G>A	ENST00000368358.3	+	8	1835	c.1827G>A	c.(1825-1827)gcG>gcA	p.A609A	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	609						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity	p.A609A(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TGGTACATGCGCCCCTTCAGG	0.627													A	155257756	G	A	155257756	2	1	437	1	0	0	0	0	0	0	0	1	7053	1074	38	1		1	HCN3	1	155257756	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	68437400	155257756	93992865	5	42718											
OR1C1	26188	broad.mit.edu	37	chr1	247920937	247920937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgaagggctgaaatagaCggcgatggctgtgccgtaaa	12	7	16	6	3	0	3	0	2	0	1	0	5	0	4	1	4	1	3	1	4	5	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr1:247920937C>T	ENST00000408896.2	-	1	1045	c.772G>A	c.(772-774)Gtc>Atc	p.V258I		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			CTGAAATAGACGGCGATGGCT	0.512													T	247920937	C	T	247920937	3	4	437	1	0	0	0	0	1	0	0	0	11028	536	19	1	174	1	OR1C1	1	247920937	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	92663181	247920937	1329684	6	42719											
CLIP4	79745	broad.mit.edu	37	chr2	29356592	29356592	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagacattagtttgcggagtCgctggacaaacatgaatgct	12	10	11	8	2	0	2	0	1	0	1	1	4	0	4	0	2	3	3	0	2	3	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:29356592C>T	ENST00000320081.5	+	5	694	c.439C>T	c.(439-441)Cgc>Tgc	p.R147C	CLIP4_ENST00000401605.1_Missense_Mutation_p.R147C|CLIP4_ENST00000404424.1_Missense_Mutation_p.R147C|CLIP4_ENST00000401617.2_Missense_Mutation_p.R40C	NM_024692.4	NP_078968.3	Q8N3C7	CLIP4_HUMAN	CAP-GLY domain containing linker protein family, member 4	147								p.R147C(1)		endometrium(4)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|prostate(1)|skin(1)	26	Acute lymphoblastic leukemia(172;0.155)					TTTGCGGAGTCGCTGGACAAA	0.368													T	29356592	C	T	29356592	3	4	437	1	0	0	0	0	1	0	0	0	3566	884	31	1	453	1	CLIP4	2	29356592	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		29356592	213842781	7	42720											
LCLAT1	253558	broad.mit.edu	37	chr2	30863465	30863465	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacacaaacagccacatttaAattcaaagaaaaatgagtaa	22	8	4	7	0	1	2	1	1	0	1	1	2	1	2	1	0	3	1	1	0	8	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30863465A>G	ENST00000309052.4	+	7	1434	c.1225A>G	c.(1225-1227)Aat>Gat	p.N409D	LCLAT1_ENST00000491680.2_3'UTR|LCLAT1_ENST00000379509.3_Missense_Mutation_p.N371D|LCLAT1_ENST00000540623.1_Missense_Mutation_p.N371D	NM_182551.3	NP_872357.2	Q6UWP7	LCLT1_HUMAN	lysocardiolipin acyltransferase 1	409					multicellular organismal development|phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(6)|ovary(2)	19						GCCACATTTAAATTCAAAGAA	0.343													G	30863465	A	G	30863465	3	3	437	1	0	0	0	0	1	0	0	0	8736	14	1	3	1247	3	LCLAT1	2	30863465	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	1506873	30863465	212335908	8	42721											
CAPN13	92291	broad.mit.edu	37	chr2	30966407	30966407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttggacagtgtttctgaaCgaggaaaaaaacacgggtgg	13	9	13	6	2	1	1	0	1	1	0	1	4	1	3	0	4	2	1	0	4	4	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:30966407C>T	ENST00000295055.8	-	13	1463	c.1287G>A	c.(1285-1287)tcG>tcA	p.S429S	CAPN13_ENST00000534090.2_Silent_p.S429S	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	429					proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TGTTTCTGAACGAGGAAAAAA	0.473													T	30966407	C	T	30966407	2	4	437	1	0	0	0	0	0	0	0	1	2652	523	19	1		1	CAPN13	2	30966407	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	102942	30966407	212232966	9	42722											
PDE1A	5136	broad.mit.edu	37	chr2	183095781	183095781	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatctggtaaacagttcAtaaatcataaacttcagact	16	13	4	8	0	5	1	4	0	1	1	5	1	5	1	0	1	2	2	0	1	7	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr2:183095781A>C	ENST00000435564.1	-	5	743	c.543T>G	c.(541-543)taT>taG	p.Y181*	PDE1A_ENST00000410103.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000456212.1_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000536095.1_Nonsense_Mutation_p.Y77*|PDE1A_ENST00000409365.1_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000346717.4_Nonsense_Mutation_p.Y147*|PDE1A_ENST00000351439.5_Nonsense_Mutation_p.Y165*|PDE1A_ENST00000331935.6_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000358139.2_Nonsense_Mutation_p.Y181*|PDE1A_ENST00000482538.1_5'UTR	NM_001258312.1|NM_005019.4	NP_001245241.1|NP_005010.2	P54750	PDE1A_HUMAN	phosphodiesterase 1A, calmodulin-dependent	181					activation of phospholipase C activity|nerve growth factor receptor signaling pathway|platelet activation	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|calmodulin binding|calmodulin-dependent cyclic-nucleotide phosphodiesterase activity|metal ion binding			endometrium(5)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(2)	35			OV - Ovarian serous cystadenocarcinoma(117;0.061)			TAAACAGTTCATAAATCATAA	0.323													C	183095781	A	C	183095781	4	2	437	1	0	0	0	0	0	1	0	0	11709	224	8	5	1182	5	PDE1A	2	183095781	Nonsense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	152129374	183095781	60103592	10	42723											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	437	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	26017331	209113112	34086261	11	42724											
GRM7	2917	broad.mit.edu	37	chr3	7188209	7188209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctatgacttcttctctcGcgtggtgccacccgattcct	4	13	9	15	4	2	1	0	1	2	0	5	2	3	1	3	1	1	1	3	1	1	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:7188209G>A	ENST00000486284.1	+	2	864	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GRM7_ENST00000402647.2_Missense_Mutation_p.R197H|GRM7_ENST00000389336.4_Missense_Mutation_p.R197H|GRM7_ENST00000357716.4_Missense_Mutation_p.R197H|GRM7_ENST00000403881.1_Missense_Mutation_p.R197H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	197					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	TTCTTCTCTCGCGTGGTGCCA	0.522													A	7188209	G	A	7188209	3	1	437	1	0	0	0	0	1	0	0	0	6857	1087	38	1	596	1	GRM7	3	7188209	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		7188209	190834221	12	42725											
SCN10A	6336	broad.mit.edu	37	chr3	38797286	38797286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgagcctcttaccatcctgCgctggttgtaaggatcagag	8	11	11	11	1	2	2	1	1	1	1	3	3	3	3	3	2	3	3	3	2	2	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:38797286C>T	ENST00000449082.2	-	10	1453	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	485					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	taccatcctgcgctGGTTGTA	0.493													T	38797286	C	T	38797286	3	4	437	1	0	0	0	0	1	0	0	0	14005	768	27	1	4488	1	SCN10A	3	38797286	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	31609077	38797286	159225144	13	42726											
KLHL18	23276	broad.mit.edu	37	chr3	47361235	47361235	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaatgacatgatggagtgCaagcaggatgagattgtaat	16	9	12	4	0	0	3	0	3	0	1	0	6	0	5	0	2	2	3	0	2	3	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:47361235C>T	ENST00000232766.5	+	2	242	c.222C>T	c.(220-222)tgC>tgT	p.C74C	KLHL18_ENST00000455924.2_Intron	NM_025010.4	NP_079286.2	O94889	KLH18_HUMAN	kelch-like family member 18	74	BTB.									endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	21		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00645)|Kidney(197;0.00741)		TGATGGAGTGCAAGCAGGATG	0.493													T	47361235	C	T	47361235	2	4	437	1	0	0	0	0	0	0	0	1	8431	718	25	2		2	KLHL18	3	47361235	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	8563949	47361235	150661195	14	42727											
DNAJC13	23317	broad.mit.edu	37	chr3	132222140	132222140	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaagaacaagcaactcCagaaaatccaaccataagga	19	4	8	10	0	0	3	0	1	0	2	2	4	2	4	3	2	4	2	3	2	8	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr3:132222140C>A	ENST00000260818.6	+	41	5047	c.4799C>A	c.(4798-4800)cCa>cAa	p.P1600Q		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1600							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAAGCAACTCCAGAAAATCCA	0.448													A	132222140	C	A	132222140	3	1	437	1	0	0	0	0	1	0	0	0	4671	594	21	4	4957	4	DNAJC13	3	132222140	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	84860905	132222140	65800290	15	42728											
MAST4	375449	broad.mit.edu	37	chr5	66448610	66448610	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgattgtgatccacagttcGgggaagaactacggctttac	10	10	11	10	3	0	2	0	1	0	1	2	4	1	3	2	3	3	2	2	3	4	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr5:66448610G>A	ENST00000404260.3	+	25	3758	c.3450G>A	c.(3448-3450)tcG>tcA	p.S1150S	MAST4_ENST00000403666.1_Silent_p.S958S|MAST4_ENST00000261569.7_Silent_p.S953S|MAST4_ENST00000405643.1_Silent_p.S968S|MAST4_ENST00000403625.2_Silent_p.S1147S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1150	PDZ.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACAGTTCGGGGAAGAACT	0.542													A	66448610	G	A	66448610	2	1	437	1	0	0	0	0	0	0	0	1	9402	1103	39	1		1	MAST4	5	66448610	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08		66448610	114466650	16	42729											
IER3	8870	broad.mit.edu	37	chr6	30711944	30711944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagccttttggctgggttCggttcctcgactggcagctg	5	12	14	10	2	0	1	0	0	0	1	3	2	1	1	2	4	2	5	2	4	1	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:30711944C>T	ENST00000376377.2	-	1	381	c.352G>A	c.(352-354)Gaa>Aaa	p.E118K	IER3_ENST00000259874.5_Silent_p.P80P			P46695	IEX1_HUMAN	immediate early response 3	0					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						TGGCTGGGTTCGGTTCCTCGA	0.617													T	30711944	C	T	30711944	3	4	437	1	0	0	0	0	1	0	0	0	7564	871	31	1	234	1	IER3	6	30711944	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		30711944	140403123	17	42730											
ZNF76	7629	broad.mit.edu	37	chr6	35255507	35255507	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccctgtggctgtgccatCggagagcaccatcctggccg	6	7	12	16	2	0	1	0	0	0	1	2	2	1	1	6	3	2	2	6	3	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:35255507C>A	ENST00000373953.3	+	5	583	c.317C>A	c.(316-318)tCg>tAg	p.S106*	ZNF76_ENST00000440666.2_Nonsense_Mutation_p.S80*|ZNF76_ENST00000339411.5_Nonsense_Mutation_p.S106*	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	106					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						GCTGTGCCATCGGAGAGCACC	0.617													A	35255507	C	A	35255507	4	1	437	1	0	0	0	0	0	1	0	0	18235	893	31	4	331	4	ZNF76	6	35255507	Nonsense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	4543563	35255507	135859560	18	42731											
GPR116	221395	broad.mit.edu	37	chr6	46826878	46826878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtggttgtcatcactaagCtctctgcaaagttattttcc	9	15	7	10	0	3	0	2	0	1	0	5	0	4	0	1	1	2	4	1	1	3	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:46826878C>T	ENST00000283296.7	-	17	3050	c.2762G>A	c.(2761-2763)aGc>aAc	p.S921N	GPR116_ENST00000545669.1_Missense_Mutation_p.S350N|GPR116_ENST00000265417.7_Missense_Mutation_p.S921N|GPR116_ENST00000456426.2_Missense_Mutation_p.S779N|GPR116_ENST00000362015.4_Missense_Mutation_p.S921N	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	921					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			CATCACTAAGCTCTCTGCAAA	0.448													T	46826878	C	T	46826878	3	4	437	1	0	0	0	0	1	0	0	0	6687	797	28	2	1298	2	GPR116	6	46826878	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	11571371	46826878	124288189	19	42732											
MCM9	254394	broad.mit.edu	37	chr6	119245149	119245149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacaaacacatgcttgcAtttgttacacatgtaatccc	13	12	5	11	0	1	0	1	0	0	0	2	1	2	0	1	0	4	4	1	0	3	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr6:119245149A>G	ENST00000316316.6	-	3	734	c.448T>C	c.(448-450)Tgc>Cgc	p.C150R	MCM9_ENST00000316068.3_Missense_Mutation_p.C150R	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	150					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACATGCTTGCATTTGTTACAC	0.458													G	119245149	A	G	119245149	3	3	437	1	0	0	0	0	1	0	0	0	9469	217	8	3	747	3	MCM9	6	119245149	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	72418271	119245149	51869918	20	42733											
SCRN1	9805	broad.mit.edu	37	chr7	29963705	29963705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctccagctccagcatGgtgctcctcagcttgcgacc	5	11	9	16	1	2	0	1	0	1	0	5	1	4	0	4	1	6	5	4	1	0	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:29963705G>A	ENST00000426154.1	-	8	1289	c.1113C>T	c.(1111-1113)acC>acT	p.T371T	SCRN1_ENST00000425819.2_Silent_p.T303T|SCRN1_ENST00000242059.5_Silent_p.T371T|SCRN1_ENST00000416113.2_Silent_p.T197T|SCRN1_ENST00000434476.2_Silent_p.T391T|SCRN1_ENST00000409497.1_Silent_p.T371T	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	371					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GCTCCAGCATGGTGCTCCTCA	0.557													A	29963705	G	A	29963705	2	1	437	1	0	0	0	0	0	0	0	1	14031	1335	47	2		2	SCRN1	7	29963705	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08		29963705	129174958	21	42734											
RNF133	168433	broad.mit.edu	37	chr7	122338205	122338205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcgttcaaagcaaattacGcagctatccccatttggatt	12	12	7	10	2	1	0	1	0	0	0	2	1	2	1	2	1	4	4	2	1	5	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr7:122338205G>A	ENST00000340112.2	-	1	1005	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000334010.7_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	256						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						AGCAAATTACGCAGCTATCCC	0.398													A	122338205	G	A	122338205	2	1	437	1	0	0	0	0	0	0	0	1	13530	1079	38	1		1	RNF133	7	122338205	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	92374500	122338205	36800458	22	42735											
MSRA	4482	broad.mit.edu	37	chr8	10285770	10285770	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcaagaaccccaatggctActgcggccttgggggcaccg	9	5	14	13	2	0	1	0	0	0	1	0	2	0	1	4	4	4	3	4	4	4	2			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr8:10285770A>G	ENST00000528246.1	+	7	1081	c.458A>G	c.(457-459)tAc>tGc	p.Y153C	MSRA_ENST00000317173.4_Missense_Mutation_p.Y219C|MSRA_ENST00000441698.2_Missense_Mutation_p.Y179C|MSRA_ENST00000382490.5_Missense_Mutation_p.Y176C	NM_001199729.1	NP_001186658.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	219					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCCAATGGCTACTGCGGCCTT	0.542													G	10285770	A	G	10285770	3	3	437	1	0	0	0	0	1	0	0	0	9963	391	14	3	695	3	MSRA	8	10285770	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08		10285770	136078252	23	42736											
FAM154A	158297	broad.mit.edu	37	chr9	18928507	18928507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttaatctgaagtgcaggtCggcaggactgagctggggca	9	9	15	8	1	2	2	0	2	2	0	3	3	2	3	0	5	2	4	0	5	2	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:18928507C>T	ENST00000380534.4	-	4	1247	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	FAM154A_ENST00000542071.1_Missense_Mutation_p.R131Q|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	323										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		AAGTGCAGGTCGGCAGGACTG	0.562													T	18928507	C	T	18928507	3	4	437	1	0	0	0	0	1	0	0	0	5508	884	31	1	460	1	FAM154A	9	18928507	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		18928507	122284924	24	42737											
FAM102A	399665	broad.mit.edu	37	chr9	130707146	130707146	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtgtcgtccacccaggTcgggtggctctccaccgagt	4	8	13	16	5	1	0	0	0	1	0	5	1	2	0	5	3	0	1	5	3	0	0	rs11558950		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:130707146T>C	ENST00000373095.1	-	9	1324	c.949A>G	c.(949-951)Acc>Gcc	p.T317A	FAM102A_ENST00000300434.3_5'UTR|FAM102A_ENST00000373084.4_Missense_Mutation_p.T175A	NM_001035254.2	NP_001030331.1	Q5T9C2	F102A_HUMAN	family with sequence similarity 102, member A	317										breast(1)|cervix(1)|large_intestine(3)|lung(1)|ovary(4)	10						TCCACCCAGGTCGGGTGGCTC	0.607													C	130707146	T	C	130707146	3	2	437	1	0	0	0	0	1	0	0	0	5427	1667	58	3	217	3	FAM102A	9	130707146	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	111778639	130707146	10506285	25	42738											
ABCA2	20	broad.mit.edu	37	chr9	139912486	139912486	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgcctggctccaccacatCgtgccccacaaaagtgtcga	9	7	9	16	2	0	0	0	0	0	0	3	1	1	0	5	1	2	2	5	1	2	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:139912486C>T	ENST00000265662.5	-	15	2182	c.2035G>A	c.(2035-2037)Gat>Aat	p.D679N	ABCA2_ENST00000371605.3_Missense_Mutation_p.D678N|ABCA2_ENST00000341511.6_Missense_Mutation_p.D679N			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	678					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		TCCACCACATCGTGCCCCACA	0.662													T	139912486	C	T	139912486	3	4	437	1	0	0	0	0	1	0	0	0	32	884	31	1	5415	1	ABCA2	9	139912486	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	9205340	139912486	1300945	26	42739											
NDOR1	27158	broad.mit.edu	37	chr9	140110623	140110623	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggaccgccagggtgcAtacttctacctggcagggtg	6	9	14	12	1	1	0	0	0	1	0	1	1	1	1	3	4	4	3	3	4	2	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr9:140110623A>G	ENST00000371521.4	+	13	1742	c.1659A>G	c.(1657-1659)gcA>gcG	p.A553A	NDOR1_ENST00000458322.2_Silent_p.A537A|NDOR1_ENST00000344894.5_Silent_p.A544A|NDOR1_ENST00000427047.2_Intron	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1	544					cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCCAGGGTGCATACTTCTACC	0.642													G	140110623	A	G	140110623	2	3	437	1	0	0	0	0	0	0	0	1	10325	204	8	3		3	NDOR1	9	140110623	Silent	SNP	A	TCGA-E1-5302-01A-01D-1468-08	198137	140110623	1102808	27	42740											
DUSP13	51207	broad.mit.edu	37	chr10	76855494	76855494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggaacttgcctgcagcgGcattcacaacgtgggtgatt	8	10	12	11	2	1	1	1	1	0	0	1	2	1	2	2	3	5	2	2	3	2	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:76855494G>A	ENST00000491677.2	-	7	1162	c.620C>T	c.(619-621)gCc>gTc	p.A207V	DUSP13_ENST00000478873.2_Missense_Mutation_p.A214V|DUSP13_ENST00000372700.3_Missense_Mutation_p.A128V|DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.A171V|DUSP13_ENST00000472493.2_Missense_Mutation_p.A78V|DUSP13_ENST00000464872.1_Missense_Mutation_p.A78V|DUSP13_ENST00000605915.1_Missense_Mutation_p.A100V	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	70						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GCCTGCAGCGGCATTCACAAC	0.577													A	76855494	G	A	76855494	3	1	437	1	0	0	0	0	1	0	0	0	4852	1203	42	2	371	2	DUSP13	10	76855494	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		76855494	58679253	28	42741											
LDB1	8861	broad.mit.edu	37	chr10	103871263	103871263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgttcgggggctccttcggcGagtacagcttgaatgacttt	6	12	13	10	4	0	2	0	2	0	0	3	3	1	2	1	3	2	4	1	3	2	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr10:103871263G>A	ENST00000425280.1	-	2	398	c.56C>T	c.(55-57)tCg>tTg	p.S19L	LDB1_ENST00000490751.1_5'UTR|LDB1_ENST00000361198.5_5'UTR	NM_001113407.1	NP_001106878.1	Q86U70	LDB1_HUMAN	LIM domain binding 1	19					histone H3-K4 acetylation|negative regulation of erythrocyte differentiation|negative regulation of transcription, DNA-dependent|positive regulation of hemoglobin biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription elongation, DNA-dependent|transcription, DNA-dependent|transcription-dependent tethering of RNA polymerase II gene DNA at nuclear periphery	nuclear chromatin|protein complex	LIM domain binding|protein homodimerization activity|transcription corepressor activity			breast(1)|central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)	21		Colorectal(252;0.122)		Epithelial(162;1.11e-07)|all cancers(201;1.82e-06)		CTCCTTCGGCGAGTACAGCTT	0.547													A	103871263	G	A	103871263	3	1	437	1	0	0	0	0	1	0	0	0	8754	1059	37	1	1219	1	LDB1	10	103871263	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	27015769	103871263	31663484	29	42742											
TMEM109	79073	broad.mit.edu	37	chr11	60687346	60687346	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacccagataggtcgatctGtgcgagggacactggatgcc	9	8	14	10	2	1	2	0	1	1	1	2	6	1	4	2	3	2	0	2	3	1	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:60687346G>C	ENST00000227525.3	+	2	584	c.181G>C	c.(181-183)Gtg>Ctg	p.V61L	RP11-881M11.4_ENST00000543907.1_RNA|TMEM109_ENST00000536171.1_Missense_Mutation_p.V61L	NM_024092.2	NP_076997.1	Q9BVC6	TM109_HUMAN	transmembrane protein 109	61						integral to membrane|nuclear outer membrane|sarcoplasmic reticulum membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(1)	8						AGGTCGATCTGTGCGAGGGAC	0.542													C	60687346	G	C	60687346	3	2	437	1	0	0	0	0	1	0	0	0	16125	1377	48	4	183	4	TMEM109	11	60687346	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		60687346	74319170	30	42743											
MTA2	9219	broad.mit.edu	37	chr11	62361480	62361480	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcgagcagctcgccgcAtttccagatgggtcagagcc	7	7	14	13	4	1	2	1	0	0	2	4	3	2	2	3	2	3	3	3	2	0	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62361480A>C	ENST00000278823.2	-	18	2263	c.1874T>G	c.(1873-1875)aTg>aGg	p.M625R	MTA2_ENST00000527204.1_Missense_Mutation_p.M452R|MTA2_ENST00000524902.1_Missense_Mutation_p.M452R	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	625					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						AGCTCGCCGCATTTCCAGATG	0.592											OREG0021027	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	62361480	A	C	62361480	3	2	437	1	0	0	0	0	1	0	0	0	9985	217	8	5	136	5	MTA2	11	62361480	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	1674134	62361480	72645036	31	42744											
GANAB	23193	broad.mit.edu	37	chr11	62400156	62400156	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagacccatacaaggccaTtgggttgtacagctcatact	12	9	8	12	0	1	1	1	0	0	1	1	1	1	1	2	2	4	3	2	2	4	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:62400156T>G	ENST00000346178.4	-	10	958	c.943A>C	c.(943-945)Atg>Ctg	p.M315L	GANAB_ENST00000540933.1_Missense_Mutation_p.M196L|GANAB_ENST00000356638.3_Missense_Mutation_p.M293L|GANAB_ENST00000534779.1_Missense_Mutation_p.M201L	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	293					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TACAAGGCCATTGGGTTGTAC	0.542													G	62400156	T	G	62400156	3	3	437	1	0	0	0	0	1	0	0	0	6287	1493	52	5	2021	5	GANAB	11	62400156	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	38676	62400156	72606360	32	42745											
FRMD8	83786	broad.mit.edu	37	chr11	65167269	65167269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttttgcaccggggtgggcGcaagccagtttctgtggcca	5	11	14	11	2	1	0	0	0	1	0	1	0	1	0	3	4	2	3	3	4	1	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:65167269G>A	ENST00000317568.5	+	8	1029	c.866G>A	c.(865-867)cGc>cAc	p.R289H	FRMD8_ENST00000416776.2_Missense_Mutation_p.R255H|FRMD8_ENST00000355991.5_Missense_Mutation_p.R233H	NM_031904.3	NP_114110.1	Q9BZ67	FRMD8_HUMAN	FERM domain containing 8	289	FERM.					cytoskeleton	binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|urinary_tract(1)	17						CGGGGTGGGCGCAAGCCAGTT	0.632													A	65167269	G	A	65167269	3	1	437	1	0	0	0	0	1	0	0	0	6108	1087	38	1	892	1	FRMD8	11	65167269	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	2767113	65167269	69839247	33	42746											
CCDC87	55231	broad.mit.edu	37	chr11	66359044	66359044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaaagttatcaatatcCattttttcaatggctttggg	12	15	6	8	0	2	0	2	0	0	0	3	0	3	0	2	2	1	2	2	2	6	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:66359044C>T	ENST00000333861.3	-	1	1510	c.1443G>A	c.(1441-1443)atG>atA	p.M481I		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	481										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						TATCAATATCCATTTTTTCAA	0.458													T	66359044	C	T	66359044	3	4	437	1	0	0	0	0	1	0	0	0	2890	594	21	2	1110	2	CCDC87	11	66359044	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	1191775	66359044	68647472	34	42747											
FOLH1B	219595	broad.mit.edu	37	chr11	89409583	89409584	+	RNA	INS	-	-	TTT																															tcttttctttcttttcttacINStttttttttttctttgcttt																								rs112834075		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:89409583_89409584insTTT	ENST00000532352.1	+	0	1261							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						tcttttcttacttttttttttt	0.347													TTT	89409584	-	TTT	89409583	6	5	437	0	1	1	1	0	0	0	0	0	6029	580	20	0		0	FOLH1B	11	89409583	RNA	INS	-	TCGA-E1-5302-01A-01D-1468-08	23050539	89409583	45596933	35	42748											
ZW10	9183	broad.mit.edu	37	chr11	113628513	113628513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttaggctggctttctaTcacagcatgaagggatgggc	9	12	13	7	0	2	1	1	1	1	0	2	2	2	2	0	4	1	4	0	4	4	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr11:113628513T>C	ENST00000200135.3	-	7	940	c.796A>G	c.(796-798)Ata>Gta	p.I266V		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	266	Interaction with RINT1.				cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TGGCTTTCTATCACAGCATGA	0.378													C	113628513	T	C	113628513	3	2	437	1	0	0	0	0	1	0	0	0	18344	1435	50	3	1583	3	ZW10	11	113628513	Missense_Mutation	SNP	T	TCGA-E1-5302-01A-01D-1468-08	24218930	113628513	21378003	36	42749											
ERBB3	2065	broad.mit.edu	37	chr12	56495733	56495733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccccccatgtccattatgCccgcctaaaaactctacgta	10	9	6	16	2	1	0	0	0	1	0	2	0	2	0	6	1	3	1	6	1	6	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:56495733C>T	ENST00000267101.3	+	28	4363	c.3923C>T	c.(3922-3924)gCc>gTc	p.A1308V	ERBB3_ENST00000553131.1_Missense_Mutation_p.A549V|ERBB3_ENST00000450146.2_Missense_Mutation_p.A665V|ERBB3_ENST00000549832.1_Missense_Mutation_p.A428V|RP11-603J24.9_ENST00000548861.1_Intron|ERBB3_ENST00000415288.2_Missense_Mutation_p.A1249V	NM_001982.3	NP_001973.2	P21860	ERBB3_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3	1308					cranial nerve development|heart development|negative regulation of cell adhesion|negative regulation of neuron apoptosis|negative regulation of secretion|negative regulation of signal transduction|neuron apoptosis|phosphatidylinositol 3-kinase cascade|positive regulation of phosphatidylinositol 3-kinase cascade|regulation of cell proliferation|Schwann cell differentiation|transmembrane receptor protein tyrosine kinase signaling pathway|wound healing	basolateral plasma membrane|extracellular space|integral to plasma membrane|receptor complex	ATP binding|growth factor binding|protein heterodimerization activity|protein homodimerization activity|protein tyrosine kinase activator activity|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|lung(3)|ovary(1)|skin(1)|stomach(1)	8			OV - Ovarian serous cystadenocarcinoma(18;0.112)			GTCCATTATGCCCGCCTAAAA	0.527													T	56495733	C	T	56495733	3	4	437	1	0	0	0	0	1	0	0	0	5249	739	26	2	4164	2	ERBB3	12	56495733	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		56495733	77356162	37	42750											
LRP1	4035	broad.mit.edu	37	chr12	57577624	57577624	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccaagcgggaccagaCgtggcgtgaagacgtggtga	9	4	18	10	5	0	4	0	2	0	2	0	5	0	5	3	4	1	0	3	4	2	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:57577624C>A	ENST00000243077.3	+	36	6327	c.5861C>A	c.(5860-5862)aCg>aAg	p.T1954K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1954					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CGGGACCAGACGTGGCGTGAA	0.612													A	57577624	C	A	57577624	3	1	437	1	0	0	0	0	1	0	0	0	9021	536	19	4	6003	4	LRP1	12	57577624	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	1081891	57577624	76274271	38	42751											
STAB2	55576	broad.mit.edu	37	chr12	104049284	104049284	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatggagttggtggaccataCaccatttttgttccaaataa	12	13	9	7	0	0	0	0	0	0	0	1	3	1	2	3	3	1	2	3	3	3	6			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104049284C>T	ENST00000388887.2	+	15	1863	c.1659C>T	c.(1657-1659)taC>taT	p.Y553Y	RP11-341G23.2_ENST00000551905.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	553	FAS1 2.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTGGACCATACACCATTTTTG	0.423													T	104049284	C	T	104049284	2	4	437	1	0	0	0	0	0	0	0	1	15334	489	17	2		2	STAB2	12	104049284	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	46471660	104049284	29802611	39	42752											
STAB2	55576	broad.mit.edu	37	chr12	104139000	104139000	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggcatcacgggctcCgggcagtgcctctgtgaaac	8	8	14	11	2	2	2	1	2	1	0	3	3	3	2	2	3	2	3	2	3	1	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104139000C>A	ENST00000388887.2	+	57	6285	c.6081C>A	c.(6079-6081)tcC>tcA	p.S2027S		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2027					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						TCACGGGCTCCGGGCAGTGCC	0.587													A	104139000	C	A	104139000	2	1	437	1	0	0	0	0	0	0	0	1	15334	639	23	4		4	STAB2	12	104139000	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	89716	104139000	29712895	40	42753											
TDG	6996	broad.mit.edu	37	chr12	104374683	104374683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttatagattggcataaacCcgggactaatggctgcttac	11	13	9	8	1	0	1	0	0	0	1	0	2	0	2	1	3	3	3	1	3	6	7			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr12:104374683C>T	ENST00000392872.3	+	4	655	c.421C>T	c.(421-423)Ccg>Tcg	p.P141S	TDG_ENST00000544861.1_5'UTR|TDG_ENST00000542036.1_5'UTR|TDG_ENST00000266775.9_Missense_Mutation_p.P137S	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	141					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		TGGCATAAACCCGGGACTAAT	0.363								Base excision repair (BER), DNA glycosylases					T	104374683	C	T	104374683	3	4	437	1	0	0	0	0	1	0	0	0	15825	623	22	2	435	2	TDG	12	104374683	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	235683	104374683	29477212	41	42754											
GABRA5	2558	broad.mit.edu	37	chr15	27128668	27128668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcccaacaagctgctgcGgctggaggacgacggcaccc	9	3	13	16	4	0	0	0	0	0	0	0	3	0	2	2	4	4	4	2	4	2	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:27128668G>A	ENST00000335625.5	+	6	1349	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	GABRA5_ENST00000557449.1_Intron|GABRA5_ENST00000400081.3_Missense_Mutation_p.R154Q|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Missense_Mutation_p.R154Q	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	154					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AAGCTGCTGCGGCTGGAGGAC	0.677													A	27128668	G	A	27128668	3	1	437	1	0	0	0	0	1	0	0	0	6216	1116	39	1	475	1	GABRA5	15	27128668	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		27128668	75402724	42	42755											
ACAN	176	broad.mit.edu	37	chr15	89401845	89401845	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagtggggattttgccaGcaccaccaatgtaagtggag	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	3	3	2	2	3	3	3	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr15:89401845G>A	ENST00000439576.2	+	12	6403	c.6029G>A	c.(6028-6030)aGc>aAc	p.S2010N	ACAN_ENST00000352105.7_Missense_Mutation_p.S2010N|ACAN_ENST00000559004.1_Missense_Mutation_p.S2010N|ACAN_ENST00000561243.1_Missense_Mutation_p.S2010N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2010					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GATTTTGCCAGCACCACCAAT	0.522													A	89401845	G	A	89401845	3	1	437	1	0	0	0	0	1	0	0	0	117	971	34	2	6071	2	ACAN	15	89401845	Missense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08	62273177	89401845	13129547	43	42756											
PKD1	5310	broad.mit.edu	37	chr16	2147949	2147949	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtcgatgtccagcacctGctgcccggcaggtgtggggc	4	8	16	13	2	0	0	0	0	0	0	2	1	1	0	3	4	3	4	3	4	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:2147949G>A	ENST00000262304.4	-	31	10295	c.10087C>T	c.(10087-10089)Cag>Tag	p.Q3363*	PKD1_ENST00000423118.1_Nonsense_Mutation_p.Q3363*	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3363					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						TCCAGCACCTGCTGCCCGGCA	0.662													A	2147949	G	A	2147949	4	1	437	1	0	0	0	0	0	1	0	0	12040	1328	46	2	2888	2	PKD1	16	2147949	Nonsense_Mutation	SNP	G	TCGA-E1-5302-01A-01D-1468-08		2147949	88206804	44	42757											
HS3ST4	9951	broad.mit.edu	37	chr16	26147367	26147367	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcatttctatttcaacaAaaccaaggggttcccttgcc	12	11	7	11	0	2	0	1	0	1	0	3	1	3	0	3	2	4	2	3	2	6	5			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr16:26147367A>T	ENST00000331351.5	+	2	1561	c.1169A>T	c.(1168-1170)aAa>aTa	p.K390I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	390					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TATTTCAACAAAACCAAGGGG	0.517													T	26147367	A	T	26147367	3	4	437	1	0	0	0	0	1	0	0	0	7422	14	1	5	1175	5	HS3ST4	16	26147367	Missense_Mutation	SNP	A	TCGA-E1-5302-01A-01D-1468-08	23999418	26147367	64207386	45	42758											
TP53	7157	broad.mit.edu	37	chr17	7577101	7577101	+	Frame_Shift_Del	DEL	C	C	-																															tcctctgtgcgccggtctctCccaggacaggcacaaacacg																										TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:7577101delC	ENST00000420246.2	-	8	969	c.837delG	c.(835-837)gggfs	p.G279fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.G279fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.G279fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.G279fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.0?(8)|p.G279G(3)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.G279V(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.G279E(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCCGGTCTCTCCCAGGACAGG	0.547		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)			-	7577101	C	-	7577101	7	5	437	1	0	1	0	1	0	0	0	0	16482	842	30	0	449	0	TP53	17	7577101	Frame_Shift_Del	DEL	C	TCGA-E1-5302-01A-01D-1468-08		7577101	73618109	46	42759											
SCPEP1	59342	broad.mit.edu	37	chr17	55072929	55072929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcagagcaagtactgaatgCcgtaaataaggggctctaca	14	8	11	8	1	1	2	0	1	1	1	1	2	1	2	1	2	5	5	1	2	7	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:55072929C>T	ENST00000262288.3	+	8	774	c.719C>T	c.(718-720)gCc>gTc	p.A240V		NM_021626.2	NP_067639.1	Q9HB40	RISC_HUMAN	serine carboxypeptidase 1	240					proteolysis	extracellular region	serine-type carboxypeptidase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|skin(2)	14	Breast(9;2.86e-08)					GTACTGAATGCCGTAAATAAG	0.483													T	55072929	C	T	55072929	3	4	437	1	0	0	0	0	1	0	0	0	14028	739	26	2	749	2	SCPEP1	17	55072929	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	47495828	55072929	26122281	47	42760											
GRIN2C	2905	broad.mit.edu	37	chr17	72851092	72851092	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggggggtgaggcgggcaCggaactgggcctggggcggc	4	5	23	9	3	1	1	0	1	1	0	1	2	1	2	1	10	1	1	1	10	1	0	rs142837005	byFrequency	TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr17:72851092C>A	ENST00000293190.5	-	2	286	c.140G>T	c.(139-141)cGt>cTt	p.R47L	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R47L|GRIN2C_ENST00000578159.1_Intron	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	47					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	GAGGCGGGCACGGAACTGGGC	0.687													A	72851092	C	A	72851092	3	1	437	1	0	0	0	0	1	0	0	0	6836	536	19	4	3609	4	GRIN2C	17	72851092	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	17778163	72851092	8344118	48	42761											
CDH19	28513	broad.mit.edu	37	chr18	64172539	64172539	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagtcaaaaaaataaacCctgatgaagaaagcacatca	22	5	5	9	0	2	3	2	2	0	1	2	3	2	3	2	0	2	1	2	0	8	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr18:64172539C>T	ENST00000262150.2	-	12	2121	c.1829G>A	c.(1828-1830)gGg>gAg	p.G610E	CDH19_ENST00000540086.1_Splice_Site_p.G487S	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	610					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				AAAAATAAACCCTGATGAAGA	0.303													T	64172539	C	T	64172539	5	4	437	1	0	0	0	0	0	0	1	0	3134	637	22	2	493	2	CDH19	18	64172539	Splice_Site	SNP	C	TCGA-E1-5302-01A-01D-1468-08		64172539	13904709	49	42762											
DOHH	83475	broad.mit.edu	37	chr19	3492382	3492382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcaggcgccccacgtcaCgctcctcagccggcggggca	5	3	13	20	6	2	0	2	0	0	0	3	0	3	0	5	4	1	3	5	4	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:3492382C>T	ENST00000427575.1	-	4	918	c.467G>A	c.(466-468)cGt>cAt	p.R156H	DOHH_ENST00000250937.3_Missense_Mutation_p.R156H	NM_001145165.1	NP_001138637.1	Q9BU89	DOHH_HUMAN	deoxyhypusine hydroxylase/monooxygenase	156					peptidyl-lysine modification to hypusine|post-translational protein modification	cytosol	deoxyhypusine monooxygenase activity|metal ion binding|protein binding			central_nervous_system(1)|large_intestine(1)|lung(1)	3				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCCACGTCACGCTCCTCAGC	0.746													T	3492382	C	T	3492382	3	4	437	1	0	0	0	0	1	0	0	0	4734	536	19	1	449	1	DOHH	19	3492382	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		3492382	55636601	50	42763											
C3	718	broad.mit.edu	37	chr19	6697496	6697496	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacttgggggggatggttacGgtctgctggtgacgcctctt	4	12	17	8	2	2	1	0	1	2	0	2	3	2	2	1	6	2	2	1	6	1	3	rs140780068		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:6697496G>A	ENST00000245907.6	-	21	2747	c.2655C>T	c.(2653-2655)acC>acT	p.T885T		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	885					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGATGGTTACGGTCTGCTGGT	0.587													A	6697496	G	A	6697496	2	1	437	1	0	0	0	0	0	0	0	1	2225	1103	39	1		1	C3	19	6697496	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	3205114	6697496	52431487	51	42764											
NCAN	1463	broad.mit.edu	37	chr19	19337662	19337662	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaccctatgcctaggagaagGgggcgcttcaaagggttgaa	11	7	15	8	1	1	2	1	1	0	1	1	4	1	2	2	4	1	2	2	4	5	4			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:19337662G>A	ENST00000252575.6	+	7	1539	c.1440G>A	c.(1438-1440)agG>agA	p.R480R		NM_004386.2	NP_004377.2	O14594	NCAN_HUMAN	neurocan						axon guidance|cell adhesion	extracellular region	calcium ion binding|hyaluronic acid binding|sugar binding			breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(32)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64			Epithelial(12;0.00544)			CTAGGAGAAGGGGGCGCTTCA	0.667													A	19337662	G	A	19337662	2	1	437	1	0	0	0	0	0	0	0	1	10280	1223	43	2		2	NCAN	19	19337662	Silent	SNP	G	TCGA-E1-5302-01A-01D-1468-08	12640166	19337662	39791321	52	42765											
PLD3	23646	broad.mit.edu	37	chr19	40883897	40883897	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccattcctctctaggaacCtccaactggtctggcaacta	10	10	6	15	0	2	0	0	0	2	0	5	1	4	1	4	3	3	1	4	3	5	3			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr19:40883897C>G	ENST00000409587.1	+	13	1687	c.1290C>G	c.(1288-1290)acC>acG	p.T430T	PLD3_ENST00000409735.4_Silent_p.T430T|PLD3_ENST00000356508.5_Silent_p.T430T|PLD3_ENST00000409419.1_Silent_p.T430T|PLD3_ENST00000409281.1_Silent_p.T430T			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	430	PLD phosphodiesterase 2.				lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			CTCTAGGAACCTCCAACTGGT	0.647													G	40883897	C	G	40883897	2	3	437	1	0	0	0	0	0	0	0	1	12124	668	24	4		4	PLD3	19	40883897	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08	21546235	40883897	18245086	53	42766											
KRTAP10-11	386678	broad.mit.edu	37	chr21	46066417	46066417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgctccagcgcttactcCgactcctggcaggtggacga	6	9	12	14	3	1	0	0	0	1	0	4	3	4	1	3	3	3	3	3	3	1	1			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr21:46066417C>T	ENST00000334670.8	+	1	87	c.42C>T	c.(40-42)tcC>tcT	p.S14S	TSPEAR_ENST00000323084.4_Intron	NM_198692.2	NP_941965.2	P60411	KR109_HUMAN	keratin associated protein 10-11	14						keratin filament				NS(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(2)|prostate(1)	12						GCGCTTACTCCGACTCCTGGC	0.672													T	46066417	C	T	46066417	2	4	437	1	0	0	0	0	0	0	0	1	8565	639	23	1		1	KRTAP10-11	21	46066417	Silent	SNP	C	TCGA-E1-5302-01A-01D-1468-08		46066417	2063478	54	42767											
MICALL1	85377	broad.mit.edu	37	chr22	38323471	38323471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccctcggccacaccatcgCcagcgctcagcgtggagagc	7	4	12	18	5	1	1	1	0	0	1	3	2	1	1	4	2	3	1	4	2	0	0			TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:38323471C>T	ENST00000215957.6	+	9	1645	c.1519C>T	c.(1519-1521)Cca>Tca	p.P507S	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	507	Pro-rich.					cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CACACCATCGCCAGCGCTCAG	0.677													T	38323471	C	T	38323471	3	4	437	1	0	0	0	0	1	0	0	0	9648	739	26	2	1553	2	MICALL1	22	38323471	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08		38323471	12981095	55	42768											
CELSR1	9620	broad.mit.edu	37	chr22	46929761	46929761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgaagaggatctggaagtCgggcagcacaggcgggttgt	9	8	18	6	2	1	2	0	1	1	1	2	4	1	4	0	5	1	4	0	5	2	2	rs145654024		TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chr22:46929761C>T	ENST00000262738.3	-	1	3306	c.3307G>A	c.(3307-3309)Gac>Aac	p.D1103N	CELSR1_ENST00000395964.1_Missense_Mutation_p.D1103N|CELSR1_ENST00000497509.1_5'UTR	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1103					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		ATCTGGAAGTCGGGCAGCACA	0.607													T	46929761	C	T	46929761	3	4	437	1	0	0	0	0	1	0	0	0	3251	884	31	1	5877	1	CELSR1	22	46929761	Missense_Mutation	SNP	C	TCGA-E1-5302-01A-01D-1468-08	8606290	46929761	4374805	56	42769											
ATRX	546	broad.mit.edu	37	chrX	76907649	76907650	+	Frame_Shift_Del	DEL	TC	TC	-																															tccctctcagcaatacgtttTcgtctctcttcctcttcctt																										TCGA-E1-5302-01A-01D-1468-08	TCGA-E1-5302-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b6552b4f-bc4b-4bad-91d7-582582c5f2f5	652a742e-454b-4aeb-81d1-4fc5fb962018	g.chrX:76907649_76907650delTC	ENST00000373344.5	-	15	4725_4726	c.4511_4512delGA	c.(4510-4512)cgafs	p.R1504fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1466fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1504					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)	CAATACGTTTTCGTCTCTCTTC	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76907650	TC	-	76907649	7	5	437	1	0	1	0	1	0	0	0	0	1213	1770	62	0	3050	0	ATRX	23	76907649	Frame_Shift_Del	DEL	TC	TCGA-E1-5302-01A-01D-1468-08		76907649	78362911	57	42770											
PLA2G4A	5321	broad.mit.edu	37	chr1	186948459	186948459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttaggtgttccaagggAaactgaggaagagaaagaaa	17	8	13	3	0	0	3	0	1	0	2	1	6	1	5	1	3	1	2	1	3	7	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr1:186948459A>G	ENST00000367466.3	+	17	2125	c.1973A>G	c.(1972-1974)gAa>gGa	p.E658G	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.E598G	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	658	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GTTCCAAGGGAAACTGAGGAA	0.333													G	186948459	A	G	186948459	3	3	438	1	0	0	0	0	1	0	0	0	12078	246	9	3	2035	3	PLA2G4A	1	186948459	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		186948459	62302162	1	42771											
KCNH7	90134	broad.mit.edu	37	chr2	163302583	163302583	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaattgctgcaaccatgTcaatcaggaaccagcctttg	13	9	9	10	0	2	0	2	0	0	0	2	2	2	2	3	2	5	2	3	2	5	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:163302583T>C	ENST00000332142.5	-	7	1598	c.1499A>G	c.(1498-1500)gAc>gGc	p.D500G	KCNH7_ENST00000328032.4_Missense_Mutation_p.D493G	NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	500					regulation of transcription, DNA-dependent	integral to membrane	protein binding|signal transducer activity			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Ibutilide(DB00308)	TGCAACCATGTCAATCAGGAA	0.353													C	163302583	T	C	163302583	3	2	438	1	0	0	0	0	1	0	0	0	8095	1667	58	3	2197	3	KCNH7	2	163302583	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08		163302583	79896790	2	42772											
TTN	7273	broad.mit.edu	37	chr2	179456089	179456089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaactgtgtagtgctcatcGgttttaatctcactcccatc	8	15	6	12	1	3	0	3	0	1	0	7	0	4	0	1	1	2	3	1	1	3	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:179456089G>A	ENST00000589042.1	-	304	60587	c.60363C>T	c.(60361-60363)acC>acT	p.T20121T	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Silent_p.T11056T|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.T17553T|TTN_ENST00000359218.5_Silent_p.T11181T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000591111.1_Silent_p.T18480T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342175.6_Silent_p.T11248T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18480	Fibronectin type-III 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTCATCGGTTTTAATCT	0.433													A	179456089	G	A	179456089	2	1	438	1	0	0	0	0	0	0	0	1	16837	1103	39	1		1	TTN	2	179456089	Silent	SNP	G	TCGA-E1-5303-01A-01D-1468-08	16153506	179456089	63743284	3	42773											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	438	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	29657023	209113112	34086261	4	42774											
SLC23A3	151295	broad.mit.edu	37	chr2	220034279	220034279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgcaggatggtagacataCcacatgaaaagaagctggag	15	8	12	6	0	0	3	0	1	0	2	0	5	0	5	1	3	3	3	1	3	5	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr2:220034279C>T	ENST00000455516.2	-	2	331	c.284G>A	c.(283-285)gGt>gAt	p.G95D	SLC23A3_ENST00000295738.7_Missense_Mutation_p.G95D|SLC23A3_ENST00000409878.3_Missense_Mutation_p.G95D|SLC23A3_ENST00000396775.3_Missense_Mutation_p.G37D	NM_001144890.1	NP_001138362.1	Q6PIS1	S23A3_HUMAN	solute carrier family 23, member 3	95					transmembrane transport	integral to membrane	protein binding|transporter activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	11		Renal(207;0.0474)		Epithelial(149;9.27e-07)|all cancers(144;0.000156)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTAGACATACCACATGAAAA	0.582													T	220034279	C	T	220034279	3	4	438	1	0	0	0	0	1	0	0	0	14558	507	18	2	1616	2	SLC23A3	2	220034279	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	10921167	220034279	23165094	5	42775											
CACNA2D3	55799	broad.mit.edu	37	chr3	55052339	55052339	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatattgcttgtgaagactgCtccaagtaagccatcccccc	11	10	7	13	0	0	2	0	1	0	1	2	2	2	2	5	0	3	3	5	0	5	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:55052339C>T	ENST00000474759.1	+	35	3030	c.2982C>T	c.(2980-2982)tgC>tgT	p.C994C	CACNA2D3_ENST00000288197.5_Silent_p.C994C|CACNA2D3_ENST00000415676.2_Silent_p.C994C|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000490478.1_Silent_p.C900C	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	994						integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		GTGAAGACTGCTCCAAGTAAG	0.502													T	55052339	C	T	55052339	2	4	438	1	0	0	0	0	0	0	0	1	2576	805	28	2		2	CACNA2D3	3	55052339	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08		55052339	142970091	6	42776											
SENP7	57337	broad.mit.edu	37	chr3	101177814	101177814	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacctttctggtgatgacTtggaagtaacaggacaccct	10	12	9	10	0	1	2	0	2	1	0	1	4	1	4	2	3	2	1	2	3	3	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:101177814T>G	ENST00000394095.2	-	4	322	c.269A>C	c.(268-270)aAg>aCg	p.K90T	SENP7_ENST00000314261.7_Missense_Mutation_p.K90T|SENP7_ENST00000348610.3_Missense_Mutation_p.K57T|SENP7_ENST00000394091.1_Missense_Mutation_p.K57T|SENP7_ENST00000358203.3_Missense_Mutation_p.K57T|SENP7_ENST00000394094.2_Missense_Mutation_p.K90T	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	90				K -> R (in Ref. 3; CAB66534).	proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGGTGATGACTTGGAAGTAAC	0.358													G	101177814	T	G	101177814	3	3	438	1	0	0	0	0	1	0	0	0	14144	1609	56	5	2967	5	SENP7	3	101177814	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08	46125475	101177814	96844616	7	42777											
PLXNA1	5361	broad.mit.edu	37	chr3	126724979	126724979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagacagggaagaagtttgCgtctgtggacttcgtcttct	8	12	14	7	2	3	2	0	0	3	2	4	5	3	4	0	3	1	1	0	3	2	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:126724979C>T	ENST00000251772.4	+	7	1955	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PLXNA1_ENST00000393409.2_Missense_Mutation_p.A652V			Q9UIW2	PLXA1_HUMAN	plexin A1	652					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AAGAAGTTTGCGTCTGTGGAC	0.602													T	126724979	C	T	126724979	3	4	438	1	0	0	0	0	1	0	0	0	12196	768	27	1	1981	1	PLXNA1	3	126724979	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	25547165	126724979	71297451	8	42778											
ZMAT3	64393	broad.mit.edu	37	chr3	178748788	178748788	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaccatgatttttaccCtagaaataaaaataaaatga	18	14	3	6	0	1	3	0	2	1	1	1	3	1	3	2	0	2	0	2	0	9	8			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr3:178748788C>G	ENST00000311417.2	-	3	1012		c.e3-1		ZMAT3_ENST00000432729.1_Splice_Site	NM_022470.3	NP_071915.1	Q9HA38	ZMAT3_HUMAN	zinc finger, matrin-type 3						apoptosis|protein transport|regulation of growth|response to DNA damage stimulus|transmembrane transport	nucleolus	RNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(6)|lung(2)|ovary(2)|prostate(1)|skin(1)	14	all_cancers(143;3.31e-18)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;6.74e-27)|GBM - Glioblastoma multiforme(14;0.00448)|BRCA - Breast invasive adenocarcinoma(182;0.0527)			GATTTTTACCCTAGAAATAAA	0.398													G	178748788	C	G	178748788	5	3	438	1	0	0	0	0	0	0	1	0	17794	695	24	4	615	4	ZMAT3	3	178748788	Splice_Site	SNP	C	TCGA-E1-5303-01A-01D-1468-08	52023809	178748788	19273642	9	42779											
AFP	174	broad.mit.edu	37	chr4	74303981	74303981	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcattgactgcaattgagaaAcccactggagatgaacagtc	14	8	10	9	0	0	4	0	3	0	2	1	6	0	4	1	1	3	2	1	1	3	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr4:74303981A>C	ENST00000395792.2	+	3	328	c.228A>C	c.(226-228)aaA>aaC	p.K76N	AFP_ENST00000226359.2_Missense_Mutation_p.K76N	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	76	Albumin 1.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CAATTGAGAAACCCACTggag	0.363									Alpha-Fetoprotein, Hereditary Persistence of				C	74303981	A	C	74303981	3	2	438	1	0	0	0	0	1	0	0	0	363	40	2	5	238	5	AFP	4	74303981	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		74303981	116850295	10	42780											
SPZ1	84654	broad.mit.edu	37	chr5	79616896	79616896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggaaataatggagtcGgtttccaaacccagccaaat	13	10	8	10	1	1	0	0	0	1	0	3	2	2	2	3	3	2	1	3	3	4	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:79616896G>A	ENST00000296739.4	+	1	1107	c.862G>A	c.(862-864)Ggt>Agt	p.G288S		NM_032567.3	NP_115956.3	Q9BXG8	SPZ1_HUMAN	spermatogenic leucine zipper 1	288					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			endometrium(2)|kidney(5)|large_intestine(4)|lung(12)|ovary(1)|skin(2)	26		Lung NSC(167;0.0393)|all_lung(232;0.0428)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;3.43e-47)|Epithelial(54;2.25e-41)|all cancers(79;4.19e-36)		TAATGGAGTCGGTTTCCAAAC	0.413													A	79616896	G	A	79616896	3	1	438	1	0	0	0	0	1	0	0	0	15223	1116	39	1	864	1	SPZ1	5	79616896	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		79616896	101298364	11	42781											
TRIM52	84851	broad.mit.edu	37	chr5	180687093	180687093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacacagatggcctctttgTccacctcacagaagagtttc	10	10	7	14	0	2	3	1	0	1	3	4	3	3	3	4	1	0	1	4	1	1	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr5:180687093T>C	ENST00000327767.4	-	1	1026	c.722A>G	c.(721-723)gAc>gGc	p.D241G	TRIM52_ENST00000514805.1_5'UTR|CTC-338M12.4_ENST00000511331.1_RNA	NM_032765.2	NP_116154.1	Q96A61	TRI52_HUMAN	tripartite motif containing 52	241						intracellular	zinc ion binding			endometrium(1)|large_intestine(2)|lung(3)|skin(1)|stomach(1)	8	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.0106)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0588)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.232)		GGCCTCTTTGTCCACCTCACA	0.542													C	180687093	T	C	180687093	3	2	438	1	0	0	0	0	1	0	0	0	16628	1667	58	3	179	3	TRIM52	5	180687093	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08	101070197	180687093	228167	12	42782											
EXOC2	55770	broad.mit.edu	37	chr6	564075	564075	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccattacgcaacgtactcGgagatccaagatgagatcct	12	8	10	11	3	0	3	0	1	0	3	3	5	2	3	3	2	3	2	3	2	4	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:564075G>A	ENST00000230449.4	-	16	1882	c.1747C>T	c.(1747-1749)Cga>Tga	p.R583*	EXOC2_ENST00000448181.3_Nonsense_Mutation_p.R178*	NM_018303.5	NP_060773.3	Q96KP1	EXOC2_HUMAN	exocyst complex component 2	583					exocytosis|protein transport					breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|liver(1)|lung(16)|ovary(4)|pancreas(1)|prostate(2)	46	Ovarian(93;0.0733)	Breast(5;0.0014)|all_lung(73;0.0697)|all_hematologic(90;0.0897)		OV - Ovarian serous cystadenocarcinoma(45;0.0507)|BRCA - Breast invasive adenocarcinoma(62;0.14)		CAACGTACTCGGAGATCCAAG	0.458													A	564075	G	A	564075	4	1	438	1	0	0	0	0	0	1	0	0	5343	1124	39	1	1079	1	EXOC2	6	564075	Nonsense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		564075	170550992	13	42783											
UTRN	7402	broad.mit.edu	37	chr6	144872125	144872125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaggctgacttagaacagCgccatcctcagctggattat	12	9	9	11	1	1	2	1	1	0	1	2	3	2	3	2	2	3	2	2	2	4	2	rs114254210	byFrequency	TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr6:144872125C>T	ENST00000367545.3	+	47	6835	c.6835C>T	c.(6835-6837)Cgc>Tgc	p.R2279C		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2279					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CTTAGAACAGCGCCATCCTCA	0.338													T	144872125	C	T	144872125	3	4	438	1	0	0	0	0	1	0	0	0	17205	768	27	1	7021	1	UTRN	6	144872125	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	144308050	144872125	26242942	14	42784											
HEATR2	54919	broad.mit.edu	37	chr7	813720	813720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgagacggtgacaaaggAcatcctggcccccaatctgc	10	6	10	15	2	1	2	0	1	1	1	3	4	2	3	4	3	1	0	4	3	2	0			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:813720A>G	ENST00000297440.6	+	10	1987	c.1967A>G	c.(1966-1968)gAc>gGc	p.D656G	HEATR2_ENST00000313147.5_Missense_Mutation_p.D656G|HEATR2_ENST00000403952.3_Missense_Mutation_p.D81G	NM_017802.3	NP_060272.3	Q86Y56	HEAT2_HUMAN	HEAT repeat containing 2	656							protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|prostate(4)|skin(1)	22		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0182)|Epithelial(4;5.48e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.95e-16)|all cancers(6;2.98e-14)		GTGACAAAGGACATCCTGGCC	0.642													G	813720	A	G	813720	3	3	438	1	0	0	0	0	1	0	0	0	7083	275	10	3	2005	3	HEATR2	7	813720	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08		813720	158324943	15	42785											
ZAN	7455	broad.mit.edu	37	chr7	100369720	100369721	+	RNA	INS	-	-	T																															ccctttcttcctctaaattcINSttttttttttttttgagacg																										TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:100369720_100369721insT	ENST00000542585.1	+	0	5573				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			cctctaaattcttttttttttt	0.535													T	100369721	-	T	100369720	6	5	438	0	1	1	1	0	0	0	0	0	17615	928	32	0		0	ZAN	7	100369720	RNA	INS	-	TCGA-E1-5303-01A-01D-1468-08	99556000	100369720	58768943	16	42786											
COG5	10466	broad.mit.edu	37	chr7	107002756	107002756	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaaatatttacctgTccacaaacagcataaatatg	15	12	3	11	0	1	0	1	0	0	0	3	0	3	0	3	0	3	1	3	0	7	6			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:107002756T>C	ENST00000393603.2	-	9	1309	c.1038A>G	c.(1036-1038)ggA>ggG	p.G346G	COG5_ENST00000297135.3_Silent_p.G346G|COG5_ENST00000347053.3_Silent_p.G346G	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	346					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TATTTACCTGTCCACAAACAG	0.393													C	107002756	T	C	107002756	2	2	438	1	0	0	0	0	0	0	0	1	3692	1654	58	3		3	COG5	7	107002756	Silent	SNP	T	TCGA-E1-5303-01A-01D-1468-08	6633036	107002756	52135907	17	42787											
AGK	55750	broad.mit.edu	37	chr7	141301025	141301025	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagccaggactctatttgAaaaaaatgctgccccgattt	15	10	7	9	1	1	1	0	1	1	0	1	3	1	2	3	1	3	1	3	1	6	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr7:141301025A>C	ENST00000355413.4	+	5	502	c.242A>C	c.(241-243)gAa>gCa	p.E81A	AGK_ENST00000535825.1_Missense_Mutation_p.E78A|AGK_ENST00000473247.1_Missense_Mutation_p.E53A	NM_018238.3	NP_060708.1	Q53H12	AGK_HUMAN	acylglycerol kinase	81	DAGKc.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway	mitochondrial membrane	acylglycerol kinase activity|ATP binding|diacylglycerol kinase activity|NAD+ kinase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(3)	17	Melanoma(164;0.0171)					ACTCTATTTGAAAAAAATGCT	0.363													C	141301025	A	C	141301025	3	2	438	1	0	0	0	0	1	0	0	0	383	246	9	5	256	5	AGK	7	141301025	Missense_Mutation	SNP	A	TCGA-E1-5303-01A-01D-1468-08	34298269	141301025	17837638	18	42788											
KCNV1	27012	broad.mit.edu	37	chr8	110984685	110984685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaagcgacacctgtcccGcacacacaggaagcggagga	13	3	13	12	3	0	0	0	0	0	0	1	5	1	4	2	4	2	1	2	4	3	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr8:110984685G>A	ENST00000524391.1	-	3	1825	c.793C>T	c.(793-795)Cgg>Tgg	p.R265W	KCNV1_ENST00000297404.1_Missense_Mutation_p.R265W			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	265						voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CACCTGTCCCGCACACACAGG	0.532													A	110984685	G	A	110984685	3	1	438	1	0	0	0	0	1	0	0	0	8152	1086	38	1	717	1	KCNV1	8	110984685	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		110984685	35379337	19	42789											
C9orf114	51490	broad.mit.edu	37	chr9	131586077	131586077	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaggtattgacgtacagGtcaaagaggacactgggttc	12	8	14	7	1	1	2	1	1	0	1	2	4	1	4	0	5	1	3	0	5	3	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr9:131586077G>C	ENST00000361256.5	-	11	1051	c.1011C>G	c.(1009-1011)gaC>gaG	p.D337E		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	337										kidney(2)|large_intestine(4)|ovary(1)	7						TGACGTACAGGTCAAAGAGGA	0.642													C	131586077	G	C	131586077	3	2	438	1	0	0	0	0	1	0	0	0	2475	1252	44	4	127	4	C9orf114	9	131586077	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		131586077	9627354	20	42790											
OR8I2	120586	broad.mit.edu	37	chr11	55860898	55860898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttcatttatctattcactGttttgggaaacctgggactg	8	17	8	8	0	4	0	2	0	2	0	4	2	4	2	1	2	1	1	1	2	3	7			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:55860898G>C	ENST00000302124.2	+	1	146	c.115G>C	c.(115-117)Gtt>Ctt	p.V39L		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					TCTATTCACTGTTTTGGGAAA	0.378													C	55860898	G	C	55860898	3	2	438	1	0	0	0	0	1	0	0	0	11316	1377	48	4	117	4	OR8I2	11	55860898	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		55860898	79145618	21	42791											
KIAA1377	57562	broad.mit.edu	37	chr11	101818852	101818852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtaaaccttcccttttcccGtagaccaacaataaactgga	14	10	5	12	1	0	1	0	0	0	1	2	2	2	2	4	1	3	2	4	1	7	6			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr11:101818852G>A	ENST00000263468.8	+	4	755	c.485G>A	c.(484-486)cGt>cAt	p.R162H		NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	162							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		CCCTTTTCCCGTAGACCAACA	0.348													A	101818852	G	A	101818852	3	1	438	1	0	0	0	0	1	0	0	0	8285	1145	40	1	499	1	KIAA1377	11	101818852	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08	45957954	101818852	33187664	22	42792											
ARID2	196528	broad.mit.edu	37	chr12	46242662	46242662	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccagattgttctgtttctCgagcagaaatgtattctgaa	11	15	8	7	1	3	3	0	1	3	2	5	4	4	3	1	0	1	4	1	0	3	5			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:46242662C>T	ENST00000334344.6	+	13	1796	c.1624C>T	c.(1624-1626)Cga>Tga	p.R542*	ARID2_ENST00000422737.1_Nonsense_Mutation_p.R393*|ARID2_ENST00000444670.1_Nonsense_Mutation_p.R152*|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	542					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TTCTGTTTCTCGAGCAGAAAT	0.343			"N, S, F"		hepatocellular carcinoma								T	46242662	C	T	46242662	4	4	438	1	0	0	0	0	0	1	0	0	918	876	31	1	1674	1	ARID2	12	46242662	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		46242662	87609233	23	42793											
MED13L	23389	broad.mit.edu	37	chr12	116460278	116460278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taccttgaaatggtgcaggtGaagactgagccatgtgtata	12	11	12	6	0	0	4	0	3	0	1	0	4	0	4	2	2	3	2	2	2	5	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr12:116460278G>A	ENST00000281928.3	-	5	814	c.608C>T	c.(607-609)tCa>tTa	p.S203L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	203					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		TGGTGCAGGTGAAGACTGAGC	0.473													A	116460278	G	A	116460278	3	1	438	1	0	0	0	0	1	0	0	0	9506	1294	45	2	6132	2	MED13L	12	116460278	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08	70217616	116460278	17391617	24	42794											
OR11H4	390442	broad.mit.edu	37	chr14	20710969	20710969	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatgtctttcttctttgtaGacttaagacccatgaacagg	10	15	7	9	0	4	3	1	1	3	2	4	3	4	3	1	1	1	1	1	1	3	5			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr14:20710969G>C	ENST00000315409.2	+	1	72	c.19G>C	c.(19-21)Gac>Cac	p.D7H		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		CTTCTTTGTAGACTTAAGACC	0.418													C	20710969	G	C	20710969	3	2	438	1	0	0	0	0	1	0	0	0	11004	942	33	4	21	4	OR11H4	14	20710969	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		20710969	86638571	25	42795											
RPP25	54913	broad.mit.edu	37	chr15	75248608	75248608	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcgggaggctctgcCacacctcgcgtacgctccgg	5	5	14	17	5	1	0	0	0	1	0	3	1	2	1	4	4	2	3	4	4	1	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr15:75248608C>T	ENST00000322177.5	-	1	1197	c.317G>A	c.(316-318)tGg>tAg	p.W106*	RPP25_ENST00000499788.2_Nonsense_Mutation_p.W106*	NM_017793.2	NP_060263.2	Q9BUL9	RPP25_HUMAN	ribonuclease P/MRP 25kDa subunit	106					tRNA processing	nucleus	protein binding|ribonuclease P activity|RNA binding			breast(1)|lung(1)	2						GAGGCTCTGCCACACCTCGCG	0.692													T	75248608	C	T	75248608	4	4	438	1	0	0	0	0	0	1	0	0	13702	595	21	2	286	2	RPP25	15	75248608	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		75248608	27282784	26	42796											
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> 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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		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)			T	7577099	C	T	7577099	3	4	438	1	0	0	0	0	1	0	0	0	16482	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		7577099	73618111	27	42797											
HNF1B	6928	broad.mit.edu	37	chr17	36099519	36099519	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgcccttgttgagatgCtgggagaggtgcgactggtt	5	11	19	6	1	0	2	0	1	0	2	0	5	0	2	1	5	3	3	1	5	0	3			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36099519C>T	ENST00000225893.4	-	2	817	c.456G>A	c.(454-456)caG>caA	p.Q152Q	HNF1B_ENST00000560016.1_Silent_p.Q152Q|HNF1B_ENST00000561193.1_Silent_p.Q152Q|HNF1B_ENST00000427275.2_Silent_p.Q152Q	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	152					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGTTGAGATGCTGGGAGAGGT	0.552													T	36099519	C	T	36099519	2	4	438	1	0	0	0	0	0	0	0	1	7307	796	28	2		2	HNF1B	17	36099519	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08	28522420	36099519	45095691	28	42798											
SRCIN1	80725	broad.mit.edu	37	chr17	36714502	36714502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcctcgtcgttgagatagCgcagccgttcctcttccacc	5	11	9	16	4	1	1	0	1	1	1	6	2	4	1	5	0	2	4	5	0	1	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:36714502C>T	ENST00000264659.7	-	11	2386	c.2162G>A	c.(2161-2163)cGc>cAc	p.R721H	SRCIN1_ENST00000578925.1_Missense_Mutation_p.R755H|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	593					exocytosis|negative regulation of protein tyrosine kinase activity|positive regulation of protein tyrosine kinase activity|regulation of cell migration|regulation of dendritic spine morphogenesis|substrate adhesion-dependent cell spreading	actin cytoskeleton|axon|cell junction|cytoplasm|dendrite|postsynaptic density|postsynaptic membrane	protein kinase binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GTTGAGATAGCGCAGCCGTTC	0.701											OREG0024362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	36714502	C	T	36714502	3	4	438	1	0	0	0	0	1	0	0	0	15232	768	27	1	1425	1	SRCIN1	17	36714502	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	614983	36714502	44480708	29	42799											
C17orf62	79415	broad.mit.edu	37	chr17	80407088	80407088	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgcctggagccctcttcaGatggaggcgggagctggtgc	6	8	17	10	1	2	1	1	0	1	1	2	5	2	4	2	5	4	1	2	5	0	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr17:80407088G>C	ENST00000336995.7	-	0	119				C17orf62_ENST00000437807.2_Missense_Mutation_p.L15V|C17orf62_ENST00000583359.1_5'UTR|C17orf62_ENST00000577436.1_Missense_Mutation_p.L15V|C17orf62_ENST00000578919.1_Missense_Mutation_p.L15V|C17orf62_ENST00000583617.1_Missense_Mutation_p.L15V|C17orf62_ENST00000342572.8_Intron|C17orf62_ENST00000585064.1_Missense_Mutation_p.L15V|C17orf62_ENST00000578913.1_Missense_Mutation_p.L15V|C17orf62_ENST00000306645.5_Missense_Mutation_p.L15V|C17orf62_ENST00000585080.1_Missense_Mutation_p.L15V|C17orf62_ENST00000434650.2_Missense_Mutation_p.L15V|C17orf62_ENST00000577732.1_Missense_Mutation_p.L15V			Q9BQA9	CQ062_HUMAN	chromosome 17 open reading frame 62							integral to membrane	protein binding			breast(2)|large_intestine(2)|skin(2)|urinary_tract(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.0143)|BRCA - Breast invasive adenocarcinoma(99;0.0369)			GCCCTCTTCAGATGGAGGCGG	0.617													C	80407088	G	C	80407088	1	2	438	1	0	0	0	0	0	0	0	0	1886	933	33	4		4	C17orf62	17	80407088	Translation_Start_Site	SNP	G	TCGA-E1-5303-01A-01D-1468-08	43692586	80407088	788122	30	42800											
EMILIN2	84034	broad.mit.edu	37	chr18	2913269	2913269	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcccgggggcattccaccTcatcgtgcacctgaaggcgg	6	6	15	14	3	1	1	1	1	0	0	3	1	2	1	4	5	1	2	4	5	1	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr18:2913269T>C	ENST00000254528.3	+	8	3188	c.3029T>C	c.(3028-3030)cTc>cCc	p.L1010P	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	1010	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		GCATTCCACCTCATCGTGCAC	0.592													C	2913269	T	C	2913269	3	2	438	1	0	0	0	0	1	0	0	0	5135	1551	54	3	3059	3	EMILIN2	18	2913269	Missense_Mutation	SNP	T	TCGA-E1-5303-01A-01D-1468-08		2913269	75163979	31	42801											
FZR1	51343	broad.mit.edu	37	chr19	3532532	3532532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctggcctcggggggcGgcacagctgaccgctgtatc	4	7	17	13	3	0	1	0	1	0	0	2	1	0	1	2	6	2	6	2	6	1	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:3532532G>C	ENST00000441788.2	+	11	1362	c.1126G>C	c.(1126-1128)Ggc>Cgc	p.G376R	FZR1_ENST00000395095.3_Missense_Mutation_p.G376R|FZR1_ENST00000313639.8_Missense_Mutation_p.G287R	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	376					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		CTCGGGGGGCGGCACAGCTGA	0.652													C	3532532	G	C	3532532	3	2	438	1	0	0	0	0	1	0	0	0	6190	1116	39	4	1164	4	FZR1	19	3532532	Missense_Mutation	SNP	G	TCGA-E1-5303-01A-01D-1468-08		3532532	55596451	32	42802											
FUT6	2528	broad.mit.edu	37	chr19	5832317	5832317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagtgatgttgcagtcagCcgtgccaggcaccatctctg	7	9	13	12	1	2	1	1	1	1	0	3	1	2	1	3	2	3	4	3	2	0	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:5832317C>T	ENST00000318336.4	-	3	1456	c.262G>A	c.(262-264)Gct>Act	p.A88T	FUT6_ENST00000524754.1_Missense_Mutation_p.A88T|FUT6_ENST00000527106.1_Missense_Mutation_p.A88T|FUT6_ENST00000592563.1_Missense_Mutation_p.A88T|FUT6_ENST00000286955.5_Missense_Mutation_p.A88T	NM_000150.2	NP_000141.1	P51993	FUT6_HUMAN	fucosyltransferase 6 (alpha (1,3) fucosyltransferase)	88					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(2)	6						TTGCAGTCAGCCGTGCCAGGC	0.622													T	5832317	C	T	5832317	3	4	438	1	0	0	0	0	1	0	0	0	6160	739	26	2	821	2	FUT6	19	5832317	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	2299785	5832317	53296666	33	42803											
ZNF324B	388569	broad.mit.edu	37	chr19	58966477	58966477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctcctgggctcccccttgCctgtccactcagcctgccct	2	10	9	20	0	1	0	1	0	0	0	4	0	4	0	7	2	3	2	7	2	0	1			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr19:58966477C>A	ENST00000391696.1	+	3	1068	c.136C>A	c.(136-138)Cct>Act	p.P46T	ZNF324B_ENST00000545523.1_Intron|ZNF324B_ENST00000336614.4_Intron			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	197	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CTCCCCCTTGCCTGTCCACTC	0.587													A	58966477	C	A	58966477	3	1	438	1	0	0	0	0	1	0	0	0	17946	754	26	4		4	ZNF324B	19	58966477	Missense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08	53134160	58966477	162506	34	42804											
CHD6	84181	broad.mit.edu	37	chr20	40045243	40045243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccttgtggatctgggcCgccaatgctgcgccgttgct	4	11	12	14	3	2	0	1	0	1	0	2	1	2	1	4	2	3	3	4	2	1	2			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chr20:40045243C>T	ENST00000373233.3	-	33	6648	c.6471G>A	c.(6469-6471)gcG>gcA	p.A2157A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	2157					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GGATCTGGGCCGCCAATGCTG	0.552													T	40045243	C	T	40045243	2	4	438	1	0	0	0	0	0	0	0	1	3359	639	23	1		1	CHD6	20	40045243	Silent	SNP	C	TCGA-E1-5303-01A-01D-1468-08		40045243	22980277	35	42805											
ZFX	7543	broad.mit.edu	37	chrX	24229263	24229263	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagaaagggatttaggCaacagagtgagcttaaaaag	17	8	13	3	0	0	3	0	1	0	2	0	5	0	4	0	2	2	3	0	2	7	4			TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:24229263C>T	ENST00000379177.1	+	11	2615	c.2188C>T	c.(2188-2190)Caa>Taa	p.Q730*	ZFX_ENST00000379188.3_Nonsense_Mutation_p.Q730*|ZFX_ENST00000539115.1_Nonsense_Mutation_p.Q501*|ZFX_ENST00000304543.5_Nonsense_Mutation_p.Q730*|ZFX_ENST00000540034.1_Nonsense_Mutation_p.Q769*|ZFX_ENST00000338565.3_Nonsense_Mutation_p.Q680*	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	730					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						GGGATTTAGGCAACAGAGTGA	0.408													T	24229263	C	T	24229263	4	4	438	1	0	0	0	0	0	1	0	0	17762	711	25	2	2273	2	ZFX	23	24229263	Nonsense_Mutation	SNP	C	TCGA-E1-5303-01A-01D-1468-08		24229263	131041297	36	42806											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													TAT	49208296	-	TAT	49208295	7	5	438	1	0	1	1	0	0	0	0	0	6246	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-E1-5303-01A-01D-1468-08	24979032	49208295	106062265	37	42807											
ATRX	546	broad.mit.edu	37	chrX	76939929	76939930	+	Frame_Shift_Ins	INS	-	-	A																															atgcagtgaccaagtccaacINSaaaggctctgggtgacaaat																										TCGA-E1-5303-01A-01D-1468-08	TCGA-E1-5303-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c4fecec7-4ee8-4b07-be22-6f816260f0b0	8f5ce4b8-2c8d-4411-b159-0035f461c34b	g.chrX:76939929_76939930insA	ENST00000373344.5	-	9	1032_1033	c.818_819insT	c.(817-819)ttgfs	p.L273fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L235fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	273	ADD.				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)	CCAAGTCCAACAAAGGCTCTGG	0.381			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939930	-	A	76939929	7	5	438	1	0	1	1	0	0	0	0	0	1213	477	17	0	6767	0	ATRX	23	76939929	Frame_Shift_Ins	INS	-	TCGA-E1-5303-01A-01D-1468-08	27731634	76939929	78330631	38	42808											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898350	26898350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgccaggtgctgaagcGccagggctacgatgaaggct	8	8	15	10	2	0	2	0	2	0	0	0	3	0	2	2	3	4	4	2	3	3	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:26898350G>T	ENST00000374168.2	+	19	1917	c.1763G>T	c.(1762-1764)cGc>cTc	p.R588L	RPS6KA1_ENST00000526792.1_Missense_Mutation_p.R496L|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.R572L|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.R577L|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.R597L|RPS6KA1_ENST00000374162.2_Missense_Mutation_p.R496L	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	588	Protein kinase 2.				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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		GTGCTGAAGCGCCAGGGCTAC	0.627													T	26898350	G	T	26898350	3	4	439	1	0	0	0	0	1	0	0	0	13741	1087	38	4	1976	4	RPS6KA1	1	26898350	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		26898350	222352271	1	42809											
GBP3	2635	broad.mit.edu	37	chr1	89486247	89486247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagctagcttgttcatcaggTaggattttcctgtgcggtag	7	14	12	8	1	2	0	2	0	0	0	3	1	3	1	1	3	3	5	1	3	3	7			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:89486247T>C	ENST00000370481.4	-	2	378	c.158A>G	c.(157-159)tAc>tGc	p.Y53C	GBP3_ENST00000475853.2_5'UTR	NM_018284.2	NP_060754.2	Q9H0R5	GBP3_HUMAN	guanylate binding protein 3	53						integral to membrane	GTP binding|GTPase activity			breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)	26		Lung NSC(277;0.123)		all cancers(265;0.0103)|Epithelial(280;0.0293)		GTTCATCAGGTAGGATTTTCC	0.517													C	89486247	T	C	89486247	3	2	439	1	0	0	0	0	1	0	0	0	6329	1638	57	3	1669	3	GBP3	1	89486247	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	62587897	89486247	159764374	2	42810											
ABCB10	23456	broad.mit.edu	37	chr1	229685030	229685030	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattggcggcagcaccacaCagaaacacggcactgagccc	12	3	11	15	2	0	2	0	1	0	1	0	2	0	2	2	3	3	4	2	3	1	1			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr1:229685030C>G	ENST00000344517.4	-	2	711	c.669G>C	c.(667-669)ctG>ctC	p.L223L		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	223	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CAGCACCACACAGAAACACGG	0.522													G	229685030	C	G	229685030	2	3	439	1	0	0	0	0	0	0	0	1	41	465	17	4		4	ABCB10	1	229685030	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08	140198783	229685030	19565591	3	42811											
KLF11	8462	broad.mit.edu	37	chr2	10188340	10188340	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgccagatgatccctgtGactggacaaagtagcatgtt	10	12	10	9	0	0	3	0	2	0	1	1	4	1	4	2	1	2	3	2	1	2	3			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:10188340G>T	ENST00000535335.1	+	3	1041	c.825G>T	c.(823-825)gtG>gtT	p.V275V	KLF11_ENST00000540845.1_Silent_p.V275V|KLF11_ENST00000305883.1_Silent_p.V292V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	292					apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TGATCCCTGTGACTGGACAAA	0.537											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10188340	G	T	10188340	2	4	439	1	0	0	0	0	0	0	0	1	8397	1277	45	4		4	KLF11	2	10188340	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		10188340	233011033	4	42812											
ETAA1	54465	broad.mit.edu	37	chr2	67631847	67631847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccgaacatggagccaaaaAcatgtttgctatatctaaac	15	11	6	9	1	1	0	0	0	1	0	2	2	2	1	2	1	5	2	2	1	7	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:67631847A>G	ENST00000272342.5	+	5	2163	c.2033A>G	c.(2032-2034)aAc>aGc	p.N678S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	678						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GGAGCCAAAAACATGTTTGCT	0.363													G	67631847	A	G	67631847	3	3	439	1	0	0	0	0	1	0	0	0	5308	43	2	3	2051	3	ETAA1	2	67631847	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	57443507	67631847	175567526	5	42813											
ALMS1	7840	broad.mit.edu	37	chr2	73718168	73718168	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagtcagccccaaatcacTgtacattagcagcatctgca	12	8	6	15	0	3	0	2	0	1	0	3	0	3	0	3	0	5	4	3	0	3	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73718168T>G	ENST00000264448.6	+	10	9190	c.9079T>G	c.(9079-9081)Tgt>Ggt	p.C3027G	ALMS1_ENST00000409009.1_Missense_Mutation_p.C2985G	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	3027					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCCAAATCACTGTACATTAGC	0.378													G	73718168	T	G	73718168	3	3	439	1	0	0	0	0	1	0	0	0	535	1580	55	5	9117	5	ALMS1	2	73718168	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	6086321	73718168	169481205	6	42814											
NAT8	9027	broad.mit.edu	37	chr2	73868641	73868641	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtatgagggttcgaggcaGcttcagcaattgccggaagg	10	8	16	7	2	1	1	1	1	0	0	2	4	1	2	1	4	3	5	1	4	3	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:73868641G>C	ENST00000272425.3	-	2	264	c.115C>G	c.(115-117)Ctg>Gtg	p.L39V		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	39					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						GTTCGAGGCAGCTTCAGCAAT	0.622													C	73868641	G	C	73868641	3	2	439	1	0	0	0	0	1	0	0	0	10255	962	34	4	572	4	NAT8	2	73868641	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	150473	73868641	169330732	7	42815											
ANKRD36	375248	broad.mit.edu	37	chr2	97875420	97875420	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccttttgcttttcagtgTcttctcggaaaaaaccagcc	9	14	6	12	1	3	0	1	0	2	0	5	1	4	1	3	1	3	1	3	1	3	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:97875420T>G	ENST00000420699.2	+	55	3512	c.3268T>G	c.(3268-3270)Tct>Gct	p.S1090A	ANKRD36_ENST00000461153.2_Missense_Mutation_p.S1090A	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1090										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTTTTCAGTGTCTTCTCGGAA	0.358													G	97875420	T	G	97875420	3	3	439	1	0	0	0	0	1	0	0	0	665	1667	58	5	3486	5	ANKRD36	2	97875420	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	24006779	97875420	145323953	8	42816											
HECW2	57520	broad.mit.edu	37	chr2	197298053	197298053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctggcatggagctctgggcgGcaaggctctggaggttctct	5	10	16	10	1	3	0	0	0	3	0	4	2	3	2	0	7	1	5	0	7	1	1			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:197298053G>A	ENST00000260983.3	-	2	277	c.95C>T	c.(94-96)gCc>gTc	p.A32V		NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GCTCTGGGCGGCAAGGCTCTG	0.602													A	197298053	G	A	197298053	3	1	439	1	0	0	0	0	1	0	0	0	7098	1203	42	2	4735	2	HECW2	2	197298053	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	99422633	197298053	45901320	9	42817											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	439	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	11815059	209113112	34086261	10	42818											
KCNJ13	3769	broad.mit.edu	37	chr2	233633140	233633140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggatgtcctcctttggcAtatttctccagtgccctcct	5	15	8	13	0	1	0	0	0	1	0	5	1	4	1	5	2	1	2	5	2	2	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr2:233633140A>G	ENST00000233826.3	-	3	983	c.844T>C	c.(844-846)Tgc>Cgc	p.C282R	GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000452341.2_Intron|GIGYF2_ENST00000409480.1_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_3'UTR|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000409451.3_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.C282R	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	282						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		CTCCTTTGGCATATTTCTCCA	0.433													G	233633140	A	G	233633140	3	3	439	1	0	0	0	0	1	0	0	0	8105	217	8	3	242	3	KCNJ13	2	233633140	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	24520028	233633140	9566233	11	42819											
FYCO1	79443	broad.mit.edu	37	chr3	46014621	46014621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcatccaagtcaaagcccctCgacgccaggtcaaactgaac	13	5	8	15	2	2	1	2	1	0	0	4	2	3	1	4	1	3	1	4	1	4	0	rs149291592	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:46014621C>T	ENST00000296137.2	-	6	703	c.498G>A	c.(496-498)tcG>tcA	p.S166S	FYCO1_ENST00000535325.1_Silent_p.S166S	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	166	RUN.				transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		CAAAGCCCCTCGACGCCAGGT	0.483													T	46014621	C	T	46014621	2	4	439	1	0	0	0	0	0	0	0	1	6177	871	31	1		1	FYCO1	3	46014621	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08		46014621	152007809	12	42820											
EPHA3	2042	broad.mit.edu	37	chr3	89448615	89448615	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagccgcaagtttgagtttGaaactagtccagactgtatg	12	11	10	8	1	0	3	0	2	0	1	1	3	1	3	2	0	2	4	2	0	4	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:89448615G>T	ENST00000336596.2	+	7	1804	c.1579G>T	c.(1579-1581)Gaa>Taa	p.E527*	EPHA3_ENST00000452448.2_Nonsense_Mutation_p.E527*|EPHA3_ENST00000494014.1_Nonsense_Mutation_p.E527*	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	527	Fibronectin type-III 2.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTTTGAGTTTGAAACTAGTCC	0.448										TSP Lung(6;0.00050)			T	89448615	G	T	89448615	4	4	439	1	0	0	0	0	0	1	0	0	5209	1291	45	4	1605	4	EPHA3	3	89448615	Nonsense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	43433994	89448615	108573815	13	42821											
C3orf52	79669	broad.mit.edu	37	chr3	111835572	111835572	+	Frame_Shift_Del	DEL	G	G	-																															ggaattcactctgttttgcaGaaaagattctgtggattaat																										TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:111835572delG	ENST00000431717.2	+	4	553	c.480delG	c.(478-480)cagfs	p.Q160fs	C3orf52_ENST00000430855.1_Intron|C3orf52_ENST00000467942.2_3'UTR|C3orf52_ENST00000264848.5_3'UTR	NM_001171747.1	NP_001165218.1	Q5BVD1	TTMP_HUMAN	chromosome 3 open reading frame 52	0						endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4						CTGTTTTGCAGAAAAGATTCT	0.458													-	111835572	G	-	111835572	7	5	439	1	0	1	0	1	0	0	0	0	2253	933	33	0	755	0	C3orf52	3	111835572	Frame_Shift_Del	DEL	G	TCGA-E1-5304-01A-01D-1468-08	22386957	111835572	86186858	14	42822											
KIAA1407	57577	broad.mit.edu	37	chr3	113761686	113761686	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaaccagtcattgaccagCtcctgagctacaataaaaca	15	9	5	12	0	2	2	1	2	1	0	3	2	3	2	3	0	5	2	3	0	5	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr3:113761686C>T	ENST00000295878.3	-	4	425	c.279G>A	c.(277-279)gaG>gaA	p.E93E	KIAA1407_ENST00000545063.1_5'UTR|KIAA1407_ENST00000480588.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	93										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CATTGACCAGCTCCTGAGCTA	0.333													T	113761686	C	T	113761686	2	4	439	1	0	0	0	0	0	0	0	1	8287	796	28	2		2	KIAA1407	3	113761686	Silent	SNP	C	TCGA-E1-5304-01A-01D-1468-08	1926114	113761686	84260744	15	42823											
CNGA1	1259	broad.mit.edu	37	chr4	47938995	47938995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatcccctttcttgcaaaTataatctccaggactgtaga	12	13	6	10	0	2	1	0	0	2	1	4	3	3	2	3	1	1	2	3	1	5	6			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:47938995T>A	ENST00000402813.3	-	10	1865	c.1723A>T	c.(1723-1725)Att>Ttt	p.I575F	CNGA1_ENST00000544810.1_Missense_Mutation_p.I506F|CNGA1_ENST00000514170.1_Missense_Mutation_p.I506F|CNGA1_ENST00000420489.2_Missense_Mutation_p.I506F|CNGA1_ENST00000358519.4_Missense_Mutation_p.I506F			P29973	CNGA1_HUMAN	cyclic nucleotide gated channel alpha 1	506					response to stimulus|visual perception	integral to plasma membrane	cGMP binding|ion channel activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(3)|urinary_tract(1)	28						TTCTTGCAAATATAATCTCCA	0.438													A	47938995	T	A	47938995	3	1	439	1	0	0	0	0	1	0	0	0	3627	1406	49	5	560	5	CNGA1	4	47938995	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08		47938995	143215281	16	42824											
COL25A1	84570	broad.mit.edu	37	chr4	109765700	109765700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccaggtgggccatggggaCctggtgggcctggtgggcct	3	7	21	10	0	0	0	0	0	0	0	0	1	0	1	5	9	0	0	5	9	0	0			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr4:109765700C>T	ENST00000399132.1	-	30	2134	c.1604G>A	c.(1603-1605)gGt>gAt	p.G535D	COL25A1_ENST00000399127.1_Missense_Mutation_p.G508D|COL25A1_ENST00000399126.1_Missense_Mutation_p.G535D	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	535						collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		gccatggggacctggtgggcc	0.433													T	109765700	C	T	109765700	3	4	439	1	0	0	0	0	1	0	0	0	3715	507	18	2	480	2	COL25A1	4	109765700	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	61826705	109765700	81388576	17	42825											
PKHD1	5314	broad.mit.edu	37	chr6	51513908	51513908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catccaaaaataccaattgtGgctgcactggaagctcattt	13	11	7	10	0	1	0	1	0	0	0	2	1	2	1	2	2	3	3	2	2	5	3			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:51513908G>T	ENST00000371117.3	-	62	11560	c.11285C>A	c.(11284-11286)cCa>cAa	p.P3762Q		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3762					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACCAATTGTGGCTGCACTGG	0.413													T	51513908	G	T	51513908	3	4	439	1	0	0	0	0	1	0	0	0	12048	1348	47	4	963	4	PKHD1	6	51513908	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		51513908	119601159	18	42826											
PHF3	23469	broad.mit.edu	37	chr6	64356551	64356551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagaatgaagtctgtgAggattttagtgcaagtcaaa	13	11	12	5	0	2	3	1	2	1	1	2	5	2	4	1	2	1	1	1	2	5	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:64356551A>G	ENST00000262043.3	+	2	435	c.95A>G	c.(94-96)gAg>gGg	p.E32G	PHF3_ENST00000393387.1_Missense_Mutation_p.E32G|PHF3_ENST00000509330.1_Missense_Mutation_p.E32G			Q92576	PHF3_HUMAN	PHD finger protein 3	32					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GAAGTCTGTGAGGATTTTAGT	0.393													G	64356551	A	G	64356551	3	3	439	1	0	0	0	0	1	0	0	0	11913	304	11	3	97	3	PHF3	6	64356551	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08	12842643	64356551	106758516	19	42827											
MAP3K5	4217	broad.mit.edu	37	chr6	136932510	136932510	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaccactgtaggtattaaTcaacacattgtcaccctaga	15	10	5	11	0	2	1	2	0	0	1	2	1	2	1	2	1	2	2	2	1	6	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr6:136932510T>C	ENST00000359015.4	-	18	2791	c.2431A>G	c.(2431-2433)Att>Gtt	p.I811V	MAP3K5_ENST00000355845.4_Missense_Mutation_p.I58V	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	811	Protein kinase.				activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TAGGTATTAATCAACACATTG	0.368													C	136932510	T	C	136932510	3	2	439	1	0	0	0	0	1	0	0	0	9328	1435	50	3	1745	3	MAP3K5	6	136932510	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	72575959	136932510	34182557	20	42828											
RINT1	60561	broad.mit.edu	37	chr7	105189063	105189063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcttcctgcctccccttCtgtcatcctgcccatccagg	3	13	5	20	0	3	0	1	0	2	0	8	0	7	0	7	1	2	0	7	1	0	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr7:105189063C>A	ENST00000257700.2	+	7	1133	c.902C>A	c.(901-903)tCt>tAt	p.S301Y		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	301	RINT1/TIP20.				cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GCCTCCCCTTCTGTCATCCTG	0.443													A	105189063	C	A	105189063	3	1	439	1	0	0	0	0	1	0	0	0	13467	913	32	4	928	4	RINT1	7	105189063	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		105189063	53949600	21	42829											
STK3	6788	broad.mit.edu	37	chr8	99779474	99779474	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaatctcttcatacctgTcacattgctgcattatggaa	13	14	5	9	0	3	0	2	0	1	0	4	1	3	1	1	1	3	2	1	1	5	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:99779474T>C	ENST00000523601.1	-	5	716	c.317A>G	c.(316-318)gAc>gGc	p.D106G	STK3_ENST00000419617.2_Missense_Mutation_p.D78G	NM_001256312.1	NP_001243241.1	Q13188	STK3_HUMAN	serine/threonine kinase 3	78	Protein kinase.				apoptosis|hippo signaling cascade|intracellular protein kinase cascade|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of apoptosis	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein dimerization activity|protein serine/threonine kinase activator activity|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17	Breast(36;2.4e-06)	Breast(495;0.106)	OV - Ovarian serous cystadenocarcinoma(57;0.0382)	KIRC - Kidney renal clear cell carcinoma(542;9.44e-06)		TTCATACCTGTCACATTGCTG	0.313													C	99779474	T	C	99779474	3	2	439	1	0	0	0	0	1	0	0	0	15391	1667	58	3	1278	3	STK3	8	99779474	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08		99779474	46584548	22	42830											
CSMD3	114788	broad.mit.edu	37	chr8	113988170	113988170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggatgaggagagagcccgTccttggacgtgttggggtcc	6	9	17	9	2	0	2	0	1	0	1	2	6	2	5	3	5	1	1	3	5	0	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:113988170T>C	ENST00000297405.5	-	7	1482	c.1238A>G	c.(1237-1239)gAc>gGc	p.D413G	CSMD3_ENST00000352409.3_Missense_Mutation_p.D413G|CSMD3_ENST00000343508.3_Missense_Mutation_p.D373G|CSMD3_ENST00000455883.2_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	413						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGAGAGCCCGTCCTTGGACGT	0.478										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113988170	T	C	113988170	3	2	439	1	0	0	0	0	1	0	0	0	3979	1667	58	3	10145	3	CSMD3	8	113988170	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	14208696	113988170	32375852	23	42831											
PLEC	5339	broad.mit.edu	37	chr8	145007212	145007212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttgcaggggccgccaCgcctgccttcagccgtaggt	4	8	15	14	3	1	0	1	0	0	0	1	0	1	0	5	4	3	3	5	4	1	3			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr8:145007212C>T	ENST00000322810.4	-	14	2066	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	PLEC_ENST00000345136.3_Missense_Mutation_p.V496M|PLEC_ENST00000398774.2_Missense_Mutation_p.V464M|PLEC_ENST00000356346.3_Missense_Mutation_p.V482M|PLEC_ENST00000527096.1_Missense_Mutation_p.V519M|PLEC_ENST00000354589.3_Missense_Mutation_p.V496M|PLEC_ENST00000357649.2_Missense_Mutation_p.V500M|PLEC_ENST00000436759.2_Missense_Mutation_p.V523M|PLEC_ENST00000354958.2_Missense_Mutation_p.V474M	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	633	Globular 1.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGGCCGCCACGCCTGCCTTC	0.662													T	145007212	C	T	145007212	3	4	439	1	0	0	0	0	1	0	0	0	12129	536	19	1	12233	1	PLEC	8	145007212	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	31019042	145007212	1356810	24	42832											
PCSK5	5125	broad.mit.edu	37	chr9	78965754	78965754	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctttcaggaaaaggagcGttgaattgtttatcctgtgt	9	16	10	6	1	2	1	1	1	1	0	4	3	3	3	1	2	1	2	1	2	4	5			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:78965754G>A	ENST00000545128.1	+	35	5434	c.4896G>A	c.(4894-4896)gcG>gcA	p.A1632A		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	797					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAAAAGGAGCGTTGAATTGTT	0.448													A	78965754	G	A	78965754	2	1	439	1	0	0	0	0	0	0	0	1	11679	1160	40	1		1	PCSK5	9	78965754	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		78965754	62247677	25	42833											
AKNA	80709	broad.mit.edu	37	chr9	117139492	117139492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcccactgctccaggaccTtgccgggctgagttcaacgg	6	9	12	14	2	1	1	1	1	0	0	3	2	3	2	4	3	3	3	4	3	1	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr9:117139492T>C	ENST00000307564.4	-	3	756	c.595A>G	c.(595-597)Agg>Ggg	p.R199G	AKNA_ENST00000374075.5_Missense_Mutation_p.R118G|AKNA_ENST00000374088.3_Missense_Mutation_p.R199G|AKNA_ENST00000312033.3_Missense_Mutation_p.R199G	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						CTCCAGGACCTTGCCGGGCTG	0.612													C	117139492	T	C	117139492	3	2	439	1	0	0	0	0	1	0	0	0	463	1608	56	3	3804	3	AKNA	9	117139492	Missense_Mutation	SNP	T	TCGA-E1-5304-01A-01D-1468-08	38173738	117139492	24073939	26	42834											
NEBL	10529	broad.mit.edu	37	chr10	21097515	21097515	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggagatttctgacctgtcGtctccgagacctgtaccgaa	8	11	10	12	4	2	3	0	1	2	2	5	6	2	3	4	1	1	1	4	1	2	2	rs140245727	byFrequency	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:21097515G>A	ENST00000377122.4	-	26	3081	c.2685C>T	c.(2683-2685)gaC>gaT	p.D895D	NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	895	Linker.				regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGACCTGTCGTCTCCGAGAC	0.458													A	21097515	G	A	21097515	2	1	439	1	0	0	0	0	0	0	0	1	10379	1136	40	1		1	NEBL	10	21097515	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		21097515	114437232	27	42835											
CHAT	1103	broad.mit.edu	37	chr10	50901834	50901834	+	Nonstop_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagctgtgttggccataGatggacatgaggtcatccta	9	11	11	10	0	1	2	1	1	0	1	3	3	3	3	3	3	1	2	3	3	2	3			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:50901834G>T	ENST00000455728.2	+	15	1748	c.1638G>T	c.(1636-1638)taG>taT	p.*546Y	C10orf53_ENST00000535836.1_Missense_Mutation_p.D38Y|C10orf53_ENST00000374113.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000374112.3_Missense_Mutation_p.D38Y|C10orf53_ENST00000374111.3_Missense_Mutation_p.D38Y			P28329	CLAT_HUMAN	choline O-acetyltransferase	0					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	GTTGGCCATAGATGGACATGA	0.463													T	50901834	G	T	50901834	4	4	439	1	0	0	0	0	0	0	0	0	3343	942	33	4		4	CHAT	10	50901834	Nonstop_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	29804319	50901834	84632913	28	42836											
LGI1	9211	broad.mit.edu	37	chr10	95557106	95557106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtctagtagttcccagcGtcctgtaatttatcagtgga	8	15	9	9	1	3	0	1	0	2	0	5	1	5	1	2	1	1	3	2	1	4	6			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr10:95557106G>A	ENST00000371418.4	+	8	1480	c.1220G>A	c.(1219-1221)cGt>cAt	p.R407H	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.R359H	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	407					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				AGTTCCCAGCGTCCTGTAATT	0.433													A	95557106	G	A	95557106	3	1	439	1	0	0	0	0	1	0	0	0	8811	1145	40	1	1250	1	LGI1	10	95557106	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	44655272	95557106	39977641	29	42837											
PAX6	5080	broad.mit.edu	37	chr11	31815341	31815341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttggcccttcgattagAaaaccatacctggaaatcag	13	10	7	11	1	1	1	1	0	0	1	2	3	1	2	4	2	2	0	4	2	5	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:31815341A>G	ENST00000419022.1	-	11	1285	c.817T>C	c.(817-819)Tct>Cct	p.S273P	PAX6_ENST00000241001.8_Missense_Mutation_p.S259P|PAX6_ENST00000379129.2_Missense_Mutation_p.S273P|PAX6_ENST00000379107.2_Missense_Mutation_p.S273P|PAX6_ENST00000379123.5_Missense_Mutation_p.S259P|PAX6_ENST00000379132.3_Missense_Mutation_p.S259P|PAX6_ENST00000379111.2_Missense_Mutation_p.S259P|PAX6_ENST00000379115.4_Missense_Mutation_p.S273P	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	259					blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					CTTCGATTAGAAAACCATACC	0.522									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				G	31815341	A	G	31815341	3	3	439	1	0	0	0	0	1	0	0	0	11559	246	9	3	509	3	PAX6	11	31815341	Missense_Mutation	SNP	A	TCGA-E1-5304-01A-01D-1468-08		31815341	103191175	30	42838											
AHNAK	79026	broad.mit.edu	37	chr11	62287998	62287998	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaatgtccactttggggtCcctgatgtcaacttcggggc	7	12	11	11	1	2	1	2	1	0	0	5	1	4	1	2	4	1	0	2	4	2	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:62287998C>A	ENST00000378024.4	-	5	14165	c.13891G>T	c.(13891-13893)Gac>Tac	p.D4631Y	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4631			D -> G (in dbSNP:rs12801123).	RD -> KG (in Ref. 2; AAA69898).	nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ACTTTGGGGTCCCTGATGTCA	0.522													A	62287998	C	A	62287998	3	1	439	1	0	0	0	0	1	0	0	0	414	855	30	4	3901	4	AHNAK	11	62287998	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08	30472657	62287998	72718518	31	42839											
DPAGT1	1798	broad.mit.edu	37	chr11	118971495	118971495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagattcagtacatcatccGcaaagcccaggaagatcatg	14	7	9	11	1	3	2	3	0	0	2	4	3	4	3	2	1	2	3	2	1	3	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr11:118971495G>A	ENST00000409993.2	-	5	1892	c.341C>T	c.(340-342)gCg>gTg	p.A114V	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A114V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A7V|DPAGT1_ENST00000445653.1_5'UTR			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	114					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		TACATCATCCGCAAAGCCCAG	0.567											OREG0021396	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	118971495	G	A	118971495	3	1	439	1	0	0	0	0	1	0	0	0	4749	1087	38	1	913	1	DPAGT1	11	118971495	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08	56683497	118971495	16035021	32	42840											
MMP19	4327	broad.mit.edu	37	chr12	56233333	56233333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcagcttaaagtggggcCggtagccctcgtagactggg	7	8	17	9	2	0	1	0	0	0	1	1	1	0	1	2	5	3	4	2	5	4	3	rs138516871		TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:56233333C>T	ENST00000322569.4	-	5	804	c.713G>A	c.(712-714)cGg>cAg	p.R238Q	MMP19_ENST00000548629.1_Missense_Mutation_p.R215Q|MMP19_ENST00000409200.3_Intron	NM_002429.4	NP_002420.1	Q99542	MMP19_HUMAN	matrix metallopeptidase 19	238					angiogenesis|cell differentiation|collagen catabolic process|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	26						AAAGTGGGGCCGGTAGCCCTC	0.617													T	56233333	C	T	56233333	3	4	439	1	0	0	0	0	1	0	0	0	9732	652	23	1	833	1	MMP19	12	56233333	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		56233333	77618562	33	42841											
DYNLL1	8655	broad.mit.edu	37	chr12	120935907	120935908	+	Frame_Shift_Ins	INS	-	-	TT																															aagtacaatcccacctggcaINSttgcatcgtggggaggaact																								rs142458935	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr12:120935907_120935908insTT	ENST00000392509.2	+	3	425_426	c.164_165insTT	c.(163-168)cattgcfs	p.C56fs	DYNLL1_ENST00000548342.1_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000549989.1_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000392508.2_Frame_Shift_Ins_p.C56fs|DYNLL1_ENST00000552316.1_3'UTR|DYNLL1_ENST00000552870.1_Intron|DYNLL1_ENST00000242577.6_Frame_Shift_Ins_p.C56fs	NM_001037494.1	NP_001032583.1	P63167	DYL1_HUMAN	dynein, light chain, LC8-type 1	56					actin cytoskeleton organization|activation of pro-apoptotic gene products|anatomical structure morphogenesis|female gamete generation|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|microtubule-based process|negative regulation of phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transport	centrosome|cytoplasmic dynein complex|cytosol|microtubule|mitochondrion|nucleus|plasma membrane	motor activity|protein binding					all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCCACCTGGCATTGCATCGTGG	0.426													TT	120935908	-	TT	120935907	7	5	439	1	0	1	1	0	0	0	0	0	4887	217	8	0	170	0	DYNLL1	12	120935907	Frame_Shift_Ins	INS	-	TCGA-E1-5304-01A-01D-1468-08	64702574	120935907	12915988	34	42842											
CMA1	1215	broad.mit.edu	37	chr14	24976583	24976583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacaatgagcagccGtcagcacaaagttccgtctt	10	10	8	13	2	2	1	1	1	1	0	4	1	4	1	3	0	4	4	3	0	2	3	rs13306251	by1000genomes	TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr14:24976583G>A	ENST00000250378.3	-	2	217	c.188C>T	c.(187-189)aCg>aTg	p.T63M	CMA1_ENST00000206446.4_Intron|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	63	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		ATGAGCAGCCGTCAGCACAAA	0.488													A	24976583	G	A	24976583	3	1	439	1	0	0	0	0	1	0	0	0	3605	1145	40	1	571	1	CMA1	14	24976583	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		24976583	82372957	35	42843											
EIF2AK4	440275	broad.mit.edu	37	chr15	40258023	40258023	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagtcaagaaaaagagaaGattgataagtgcaaaaagca	22	5	9	5	0	1	4	1	1	0	3	1	5	1	4	1	0	2	2	1	0	7	2			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr15:40258023G>A	ENST00000263791.5	+	8	1039	c.996G>A	c.(994-996)aaG>aaA	p.K332K	EIF2AK4_ENST00000382727.2_Silent_p.K332K|EIF2AK4_ENST00000559624.1_Silent_p.K332K	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	332	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		AAAAAGAGAAGATTGATAAGT	0.443													A	40258023	G	A	40258023	2	1	439	1	0	0	0	0	0	0	0	1	5038	933	33	2		2	EIF2AK4	15	40258023	Silent	SNP	G	TCGA-E1-5304-01A-01D-1468-08		40258023	62273369	36	42844											
OSGIN1	29948	broad.mit.edu	37	chr16	83994303	83994303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcctcacctggaagcacCggaaggagcacgccatcccc	9	4	11	17	3	1	0	1	0	0	0	3	3	3	3	6	4	2	2	6	4	2	0			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr16:83994303C>T	ENST00000343939.2	+	5	966	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	OSGIN1_ENST00000361711.3_Missense_Mutation_p.R112W|OSGIN1_ENST00000565123.1_Missense_Mutation_p.R112W|OSGIN1_ENST00000393306.1_Missense_Mutation_p.R112W			Q9UJX0	OSGI1_HUMAN	oxidative stress induced growth inhibitor 1	195					cell differentiation|multicellular organismal development|negative regulation of cell growth		growth factor activity			autonomic_ganglia(1)|large_intestine(1)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	12						CTGGAAGCACCGGAAGGAGCA	0.657													T	83994303	C	T	83994303	3	4	439	1	0	0	0	0	1	0	0	0	11365	643	23	1	601	1	OSGIN1	16	83994303	Missense_Mutation	SNP	C	TCGA-E1-5304-01A-01D-1468-08		83994303	6360450	37	42845											
TP53	7157	broad.mit.edu	37	chr17	7578550	7578550	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcttgttgagggcagggGagtactgtaggaagaggaag	12	8	17	4	0	1	2	0	1	1	1	1	5	1	5	0	5	1	4	0	5	4	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr17:7578550G>T	ENST00000420246.2	-	5	512	c.380C>A	c.(379-381)tCc>tAc	p.S127Y	TP53_ENST00000269305.4_Missense_Mutation_p.S127Y|TP53_ENST00000445888.2_Missense_Mutation_p.S127Y|TP53_ENST00000413465.2_Missense_Mutation_p.S127Y|TP53_ENST00000455263.2_Missense_Mutation_p.S127Y|TP53_ENST00000359597.4_Missense_Mutation_p.S127Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	127	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in a sporadic cancer; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; somatic mutation).|S -> Y (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.S127F(23)|p.0?(8)|p.S127Y(8)|p.S127C(7)|p.Y126_K132delYSPALNK(6)|p.A129fs*20(3)|p.Y126_N131delYSPALN(3)|p.S34C(2)|p.P128fs*42(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.?(1)|p.S34F(1)|p.A36fs*20(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GAGGGCAGGGGAGTACTGTAG	0.552		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)			T	7578550	G	T	7578550	3	4	439	1	0	0	0	0	1	0	0	0	16482	1174	41	4	918	4	TP53	17	7578550	Missense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		7578550	73616660	38	42846											
ALKBH6	84964	broad.mit.edu	37	chr19	36501795	36501795	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggccgagggtgtgtggttaCcatgatgccctccccaggca	6	8	15	12	1	0	1	0	1	0	0	1	2	1	1	5	4	2	2	5	4	1	1			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chr19:36501795C>T	ENST00000486389.1	-	4	1016		c.e4+1		ALKBH6_ENST00000485128.1_Splice_Site|ALKBH6_ENST00000252984.7_Splice_Site|ALKBH6_ENST00000378875.3_Splice_Site|ALKBH6_ENST00000495116.2_Intron|AC002116.8_ENST00000473572.2_RNA			Q3KRA9	ALKB6_HUMAN	alkB, alkylation repair homolog 6 (E. coli)							cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|skin(1)	9	all_lung(56;1.35e-06)|Lung NSC(56;2.15e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			TGTGTGGTTACCATGATGCCC	0.592													T	36501795	C	T	36501795	5	4	439	1	0	0	0	0	0	0	1	0	531	521	18	2	391	2	ALKBH6	19	36501795	Splice_Site	SNP	C	TCGA-E1-5304-01A-01D-1468-08		36501795	22627188	39	42847											
ATRX	546	broad.mit.edu	37	chrX	76814313	76814313	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagaaatgataaataatcGtcctctgaaaatgaaaatat	20	11	6	4	1	1	4	0	3	1	1	3	4	2	4	1	0	0	1	1	0	10	4			TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:76814313G>A	ENST00000373344.5	-	29	6545	c.6331C>T	c.(6331-6333)Cga>Tga	p.R2111*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2073*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2111	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.R2111*(1)|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)	ATAAATAATCGTCCTCTGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76814313	G	A	76814313	4	1	439	1	0	0	0	0	0	1	0	0	1213	1153	40	1	1175	1	ATRX	23	76814313	Nonsense_Mutation	SNP	G	TCGA-E1-5304-01A-01D-1468-08		76814313	78456247	40	42848											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-E1-5304-01A-01D-1468-08	TCGA-E1-5304-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6b925bf-a091-4254-ad24-d1581fa66cb1	81f4e278-bb3d-4621-886b-5e03e7205291	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977803	-	C	107977802	7	5	439	1	0	1	1	0	0	0	0	0	7900	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-E1-5304-01A-01D-1468-08	31163489	107977802	47292758	41	42849											
NBPF1	55672	broad.mit.edu	37	chr1	16918422	16918424	+	In_Frame_Del	DEL	TTG	TTG	-																															tgaggtttctgaactgctgtTtgttctctgccagctggggg																								rs9730077	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:16918422_16918424delTTG	ENST00000430580.2	-	7	980_982	c.93_95delCAA	c.(91-96)aacaaa>aaa	p.N31del		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	31			N -> K (in dbSNP:rs9730077).			cytoplasm									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		GAACTGCTGTTTGTTCTCTGCCA	0.488													-	16918424	TTG	-	16918422	7	5	440	1	0	1	0	1	0	0	0	0	10268	1841	64	0	3421	0	NBPF1	1	16918422	In_Frame_Del	DEL	TTG	TCGA-E1-5305-01A-01D-1893-08		16918422	232332199	1	42850											
HNRNPR	10236	broad.mit.edu	37	chr1	23665036	23665038	+	In_Frame_Del	DEL	CTT	CTT	-																															ctgtagtacagacagagctcCttcttcattaaattccctga																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:23665036_23665038delCTT	ENST00000374612.1	-	3	344_346	c.221_223delAAG	c.(220-225)gaagga>gga	p.E74del	HNRNPR_ENST00000374616.3_In_Frame_Del_p.E74del|HNRNPR_ENST00000426846.2_5'UTR|HNRNPR_ENST00000302271.6_In_Frame_Del_p.E74del|HNRNPR_ENST00000478691.1_5'UTR|HNRNPR_ENST00000606561.1_5'UTR|HNRNPR_ENST00000427764.2_In_Frame_Del_p.E74del	NM_001102398.1|NM_005826.3	NP_001095868.1|NP_005817.1	O43390	HNRPR_HUMAN	heterogeneous nuclear ribonucleoprotein R	74	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00394)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;6.83e-27)|Colorectal(126;6.01e-08)|COAD - Colon adenocarcinoma(152;3.32e-06)|GBM - Glioblastoma multiforme(114;6.69e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00357)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0875)|LUSC - Lung squamous cell carcinoma(448;0.19)		GACAGAGCTCCTTCTTCATTAAA	0.365													-	23665038	CTT	-	23665036	7	5	440	1	0	1	0	1	0	0	0	0	7327	690	24	0	1723	0	HNRNPR	1	23665036	In_Frame_Del	DEL	CTT	TCGA-E1-5305-01A-01D-1893-08	6746614	23665036	225585585	2	42851											
AKNAD1	254268	broad.mit.edu	37	chr1	109380254	109380254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagggaaggagctgaagtaTatttgctttcatccattttc	11	14	10	6	0	1	1	1	1	0	0	3	4	2	3	1	2	2	3	1	2	5	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:109380254T>C	ENST00000370001.3	-	7	1722	c.1454A>G	c.(1453-1455)tAt>tGt	p.Y485C	AKNAD1_ENST00000357393.4_Missense_Mutation_p.Y192C|AKNAD1_ENST00000369994.1_Missense_Mutation_p.Y485C|AKNAD1_ENST00000369995.3_Missense_Mutation_p.Y485C	NM_152763.4	NP_689976.2	Q5T1N1	AKND1_HUMAN	AKNA domain containing 1	485										breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|prostate(6)|skin(3)|stomach(2)	32						AGCTGAAGTATATTTGCTTTC	0.403													C	109380254	T	C	109380254	3	2	440	1	0	0	0	0	1	0	0	0	464	1406	49	3	1096	3	AKNAD1	1	109380254	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08	85715218	109380254	139870367	3	42852											
FLG	2312	broad.mit.edu	37	chr1	152280725	152280725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgtcggcccaagaggaagCttcatgatgatgcgaccctg	9	8	13	11	2	1	3	1	2	0	1	2	5	1	4	2	2	2	2	2	2	2	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:152280725C>G	ENST00000368799.1	-	3	6672	c.6637G>C	c.(6637-6639)Gct>Cct	p.A2213P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2213	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAAGAGGAAGCTTCATGATGA	0.562									Ichthyosis				G	152280725	C	G	152280725	3	3	440	1	0	0	0	0	1	0	0	0	5971	797	28	4	5552	4	FLG	1	152280725	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	42900471	152280725	96969896	4	42853											
DCST2	127579	broad.mit.edu	37	chr1	155005617	155005617	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacttcggcggtctggttcAgggccagctctgccccacag	5	8	13	15	2	3	0	1	0	2	0	4	0	3	0	3	4	2	3	3	4	0	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:155005617A>C	ENST00000368424.3	-	2	450	c.392T>G	c.(391-393)cTg>cGg	p.L131R	DCST2_ENST00000295536.5_Missense_Mutation_p.L131R	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	131						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GGTCTGGTTCAGGGCCAGCTC	0.632													C	155005617	A	C	155005617	3	2	440	1	0	0	0	0	1	0	0	0	4337	188	7	5	1985	5	DCST2	1	155005617	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	2724892	155005617	94245004	5	42854											
OR10J3	441911	broad.mit.edu	37	chr1	159284385	159284385	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacaagtttgtgctgcCgcctgaagctggagaaacct	12	8	12	9	1	0	4	0	1	0	3	0	5	0	4	3	1	4	3	3	1	4	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:159284385C>T	ENST00000332217.5	-	1	64	c.65G>A	c.(64-66)cGg>cAg	p.R22Q		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R22Q(1)|p.R22L(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					TTTGTGCTGCCGCCTGAAGCT	0.453													T	159284385	C	T	159284385	3	4	440	1	0	0	0	0	1	0	0	0	10987	652	23	1	926	1	OR10J3	1	159284385	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	4278768	159284385	89966236	6	42855											
FMOD	2331	broad.mit.edu	37	chr1	203316483	203316483	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgactggggggatcttctGcagctggttgtaggagaggt	6	12	18	5	0	2	2	0	1	2	1	2	4	2	3	0	6	2	5	0	6	1	4			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr1:203316483G>C	ENST00000354955.4	-	2	1379	c.916C>G	c.(916-918)Cag>Gag	p.Q306E	FMOD_ENST00000493296.1_Intron	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	306					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			GGGATCTTCTGCAGCTGGTTG	0.557													C	203316483	G	C	203316483	3	2	440	1	0	0	0	0	1	0	0	0	6008	1328	46	4	222	4	FMOD	1	203316483	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	44032098	203316483	45934138	7	42856											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	440	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		209113112	34086261	8	42857											
SLC4A7	9497	broad.mit.edu	37	chr3	27444777	27444777	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatcgagtaatataacacAcaaggctgcttgcatctgtt	14	12	7	8	1	1	0	0	0	1	0	2	1	1	0	0	1	3	5	0	1	6	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:27444777A>G	ENST00000295736.5	-	15	2217	c.2147T>C	c.(2146-2148)gTg>gCg	p.V716A	SLC4A7_ENST00000388777.4_Missense_Mutation_p.V266A|SLC4A7_ENST00000437179.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000446700.1_Missense_Mutation_p.V708A|SLC4A7_ENST00000440156.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000445684.1_Missense_Mutation_p.V712A|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000455077.1_Missense_Mutation_p.V597A|SLC4A7_ENST00000435667.2_Missense_Mutation_p.V601A|SLC4A7_ENST00000428386.1_Missense_Mutation_p.V592A|SLC4A7_ENST00000454389.1_Missense_Mutation_p.V725A	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	716						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						AATATAACACACAAGGCTGCT	0.378													G	27444777	A	G	27444777	3	3	440	1	0	0	0	0	1	0	0	0	14752	159	6	3	1541	3	SLC4A7	3	27444777	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08		27444777	170577653	9	42858											
KIF9	64147	broad.mit.edu	37	chr3	47284702	47284702	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtccttcccattcacAgggctgctggcaccttcctt	6	12	7	16	0	1	0	1	0	0	0	5	0	5	0	5	2	1	3	5	2	1	4			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:47284702A>G	ENST00000335044.2	-	16	1905	c.1548T>C	c.(1546-1548)ccT>ccC	p.P516P	KIF9_ENST00000265529.3_Silent_p.P516P|KIF9_ENST00000352910.4_Intron|KIF9_ENST00000487440.1_5'UTR|KIF9-AS1_ENST00000429315.3_RNA|KIF9_ENST00000452770.2_Silent_p.P516P|KIF9_ENST00000444589.2_Intron	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	516					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCCATTCACAGGGCTGCTGG	0.552													G	47284702	A	G	47284702	2	3	440	1	0	0	0	0	0	0	0	1	8368	175	7	3		3	KIF9	3	47284702	Silent	SNP	A	TCGA-E1-5305-01A-01D-1893-08	19839925	47284702	150737728	10	42859											
DNAH1	25981	broad.mit.edu	37	chr3	52416412	52416412	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcgagatgatgtgaagaagGtcctgctcaaggcgggccta	10	7	16	8	2	1	4	1	2	0	2	2	5	2	4	2	4	1	1	2	4	4	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:52416412G>A	ENST00000420323.2	+	50	8143	c.7882G>A	c.(7882-7884)Gtc>Atc	p.V2628I		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2628	AAA 4 (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)		TGTGAAGAAGGTCCTGCTCAA	0.582													A	52416412	G	A	52416412	3	1	440	1	0	0	0	0	1	0	0	0	4636	1261	44	2	8076	2	DNAH1	3	52416412	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	5131710	52416412	145606018	11	42860											
KBTBD8	84541	broad.mit.edu	37	chr3	67054104	67054104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttccagaaatttttgctaAatgcatacgttttcctctga	10	16	5	10	1	1	2	0	1	1	1	3	2	3	2	3	0	3	3	3	0	4	7			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr3:67054104A>G	ENST00000295568.4	+	3	766	c.635A>G	c.(634-636)aAa>aGa	p.K212R	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Missense_Mutation_p.K238R|KBTBD8_ENST00000469661.1_3'UTR	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	238	BACK.									breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		ATTTTTGCTAAATGCATACGT	0.388													G	67054104	A	G	67054104	3	3	440	1	0	0	0	0	1	0	0	0	8057	14	1	3	723	3	KBTBD8	3	67054104	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	14637692	67054104	130968326	12	42861											
ADCY2	108	broad.mit.edu	37	chr5	7520914	7520914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccttcaacatgcgagacGccatcattgccagcgtcctc	8	9	8	16	3	2	1	2	0	0	1	4	2	3	1	4	0	5	0	4	0	1	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:7520914G>A	ENST00000338316.4	+	3	561	c.472G>A	c.(472-474)Gcc>Acc	p.A158T		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	158					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.A158T(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						CATGCGAGACGCCATCATTGC	0.547													A	7520914	G	A	7520914	3	1	440	1	0	0	0	0	1	0	0	0	294	1087	38	1	482	1	ADCY2	5	7520914	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08		7520914	173394346	13	42862											
DNAH5	1767	broad.mit.edu	37	chr5	13751313	13751313	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgggttaggcaatttggtGgtaatgtagagtctaaagcc	10	12	14	5	0	1	1	0	0	1	1	1	1	1	1	1	4	1	5	1	4	6	5			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr5:13751313G>T	ENST00000265104.4	-	65	11189	c.11085C>A	c.(11083-11085)acC>acA	p.T3695T		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3695	AAA 5 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GCAATTTGGTGGTAATGTAGA	0.383									Kartagener syndrome				T	13751313	G	T	13751313	2	4	440	1	0	0	0	0	0	0	0	1	4643	1335	47	4		4	DNAH5	5	13751313	Silent	SNP	G	TCGA-E1-5305-01A-01D-1893-08	6230399	13751313	167163947	14	42863											
TNRC18	84629	broad.mit.edu	37	chr7	5428811	5428812	+	Frame_Shift_Ins	INS	-	-	C																															gccgaaaagcggaggcggctINSccccgccgcggcccgcccgc																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr7:5428811_5428812insC	ENST00000399537.4	-	5	991_992	c.643_644insG	c.(643-645)gagfs	p.E215fs	TNRC18_ENST00000430969.1_Frame_Shift_Ins_p.E215fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	215							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CGGAGGCGGCTCCCCGCCGCGG	0.797													C	5428812	-	C	5428811	7	5	440	1	0	1	1	0	0	0	0	0	16439	1551	54	0	8366	0	TNRC18	7	5428811	Frame_Shift_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		5428811	153709852	15	42864											
KCNB2	9312	broad.mit.edu	37	chr8	73849587	73849587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgccagggatggcaCgctggagtatgccccagttg	7	8	14	12	1	0	0	0	0	0	0	0	2	0	2	4	3	3	5	4	3	1	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr8:73849587C>T	ENST00000523207.1	+	3	2585	c.1997C>T	c.(1996-1998)aCg>aTg	p.T666M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	666					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			AGGGATGGCACGCTGGAGTAT	0.562													T	73849587	C	T	73849587	3	4	440	1	0	0	0	0	1	0	0	0	8071	536	19	1	2003	1	KCNB2	8	73849587	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		73849587	72514435	16	42865											
ALDH1B1	219	broad.mit.edu	37	chr9	38396046	38396046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggatggatgcctctgagCggggccggctgctgaaccgc	5	6	17	13	4	1	2	0	2	1	0	1	4	1	4	4	5	4	2	4	5	1	0			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr9:38396046C>T	ENST00000377698.3	+	2	454	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	101					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	TGCCTCTGAGCGGGGCCGGCT	0.647													T	38396046	C	T	38396046	3	4	440	1	0	0	0	0	1	0	0	0	493	759	27	1	303	1	ALDH1B1	9	38396046	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		38396046	102817385	17	42866											
ITIH2	3698	broad.mit.edu	37	chr10	7786812	7786812	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctggataaagagatgTccttttctgttttacttcat	9	17	6	9	0	3	1	2	0	1	1	4	3	4	2	2	1	1	1	2	1	3	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:7786812T>C	ENST00000358415.4	+	19	2633	c.2467T>C	c.(2467-2469)Tcc>Ccc	p.S823P	ITIH2_ENST00000379587.4_Missense_Mutation_p.S812P	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	823					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAAAGAGATGTCCTTTTCTGT	0.418													C	7786812	T	C	7786812	3	2	440	1	0	0	0	0	1	0	0	0	7962	1667	58	3	2541	3	ITIH2	10	7786812	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08		7786812	127747935	18	42867											
VCL	7414	broad.mit.edu	37	chr10	75834513	75834513	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttacagctatgaagatttTtgtaacaactaaaaactcaa	17	14	4	6	0	1	2	1	1	0	1	1	2	1	2	0	0	5	2	0	0	9	7			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr10:75834513T>G	ENST00000211998.4	+	6	729	c.635T>G	c.(634-636)tTt>tGt	p.F212C	VCL_ENST00000372755.3_Missense_Mutation_p.F212C|VCL_ENST00000417648.2_Intron|VCL_ENST00000478896.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	212	N-terminal globular head.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					ATGAAGATTTTTGTAACAACT	0.269													G	75834513	T	G	75834513	3	3	440	1	0	0	0	0	1	0	0	0	17241	1841	64	5	657	5	VCL	10	75834513	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08	68047701	75834513	59700234	19	42868											
CTSC	1075	broad.mit.edu	37	chr11	88042410	88042410	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatattccatgtatgtagTtgcagtccaagacttctgaa	11	14	7	9	0	2	2	1	1	1	1	4	2	4	2	2	0	1	4	2	0	5	6			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr11:88042410T>C	ENST00000227266.5	-	4	676	c.562A>G	c.(562-564)Act>Gct	p.T188A		NM_001814.4	NP_001805	P53634	CATC_HUMAN	cathepsin C	188					immune response	lysosome	cysteine-type endopeptidase activity			large_intestine(7)|lung(8)|ovary(2)|prostate(3)|skin(2)	22		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ATGTATGTAGTTGCAGTCCAA	0.388													C	88042410	T	C	88042410	3	2	440	1	0	0	0	0	1	0	0	0	4064	1725	60	3	845	3	CTSC	11	88042410	Missense_Mutation	SNP	T	TCGA-E1-5305-01A-01D-1893-08		88042410	46964106	20	42869											
WNK1	65125	broad.mit.edu	37	chr12	999632	999632	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacagcctgtgtccatggCggctccaacagcaatcacag	10	9	9	13	1	1	0	1	0	0	0	3	0	3	0	3	2	4	2	3	2	3	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:999632C>T	ENST00000537687.1	+	22	6885	c.6242C>T	c.(6241-6243)gCg>gTg	p.A2081V	WNK1_ENST00000340908.4_Missense_Mutation_p.A1414V|WNK1_ENST00000315939.6_Missense_Mutation_p.A1821V|WNK1_ENST00000535572.1_Missense_Mutation_p.A1574V|WNK1_ENST00000530271.2_Missense_Mutation_p.A2319V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1821					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTCCATGGCGGCTCCAACA	0.463													T	999632	C	T	999632	3	4	440	1	0	0	0	0	1	0	0	0	17479	768	27	1	7050	1	WNK1	12	999632	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		999632	132852263	21	42870											
CACNA2D4	93589	broad.mit.edu	37	chr12	1992145	1992145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctgggtgtccgccagcGttgagatctgcgtgtagtag	5	12	14	10	3	2	1	0	1	2	1	4	2	3	1	3	1	2	3	3	1	2	3			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:1992145G>A	ENST00000382722.5	-	13	1735	c.1373C>T	c.(1372-1374)aCg>aTg	p.T458M	CACNA2D4_ENST00000585708.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000588077.1_Missense_Mutation_p.T394M|CACNA2D4_ENST00000585732.1_Missense_Mutation_p.T343M|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.T458M|CACNA2D4_ENST00000586184.1_Missense_Mutation_p.T458M	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	458	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	p.T458M(1)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		GTCCGCCAGCGTTGAGATCTG	0.642													A	1992145	G	A	1992145	3	1	440	1	0	0	0	0	1	0	0	0	2577	1145	40	1	2144	1	CACNA2D4	12	1992145	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	992513	1992145	131859750	22	42871											
LPAR5	57121	broad.mit.edu	37	chr12	6729924	6729924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaggtcccggtagcggcaaCgcgagggcctgtgcacgcgg	6	4	18	13	7	0	0	0	0	0	0	1	2	1	0	2	5	3	3	2	5	2	1			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:6729924C>T	ENST00000329858.4	-	2	1247	c.491G>A	c.(490-492)cGt>cAt	p.R164H	LPAR5_ENST00000431922.1_Missense_Mutation_p.R164H|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	164						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						GTAGCGGCAACGCGAGGGCCT	0.726													T	6729924	C	T	6729924	3	4	440	1	0	0	0	0	1	0	0	0	8978	536	19	1	631	1	LPAR5	12	6729924	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08	4737779	6729924	127121971	23	42872											
BICD1	636	broad.mit.edu	37	chr12	32480873	32480873	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatgaccagcatagccaAcgaaaatcacagtaccctta	18	6	6	11	1	1	2	1	1	0	1	1	3	1	2	3	0	4	2	3	0	7	3	rs116296656	by1000genomes	TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr12:32480873A>G	ENST00000548411.1	+	5	1665	c.1484A>G	c.(1483-1485)aAc>aGc	p.N495S	BICD1_ENST00000281474.5_Missense_Mutation_p.N495S	NM_001003398.1	NP_001003398.1	Q96G01	BICD1_HUMAN	bicaudal D homolog 1 (Drosophila)	495					anatomical structure morphogenesis|intracellular mRNA localization|microtubule anchoring at microtubule organizing center|minus-end-directed organelle transport along microtubule|positive regulation of receptor-mediated endocytosis|protein localization to organelle|RNA processing|stress granule assembly|viral reproduction	cytoplasmic vesicle|cytoskeleton|cytosol|host cell viral assembly compartment|membrane|perinuclear region of cytoplasm|trans-Golgi network	cytoskeletal adaptor activity|dynactin binding|dynein binding|proteinase activated receptor binding|Rab GTPase binding|structural constituent of cytoskeleton			NS(1)|breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46	all_cancers(9;5.13e-11)|all_epithelial(9;2.71e-11)|all_lung(12;6.66e-10)|Acute lymphoblastic leukemia(23;0.0122)|Lung SC(12;0.0213)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)		OV - Ovarian serous cystadenocarcinoma(6;0.0201)			AGCATAGCCAACGAAAATCAC	0.458													G	32480873	A	G	32480873	3	3	440	1	0	0	0	0	1	0	0	0	1434	43	2	3	1502	3	BICD1	12	32480873	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	25750949	32480873	101371022	24	42873											
CENPJ	55835	broad.mit.edu	37	chr13	25486836	25486836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccaggagcactgtgacatgCcgctacctgtggtccctttt	6	12	10	13	1	0	1	0	1	0	0	2	2	2	2	4	2	3	2	4	2	1	3			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:25486836C>T	ENST00000381884.4	-	2	513	c.328G>A	c.(328-330)Gca>Aca	p.A110T	CENPJ_ENST00000545981.1_Missense_Mutation_p.A110T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	110					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		CTGTGACATGCCGCTACCTGT	0.433													T	25486836	C	T	25486836	3	4	440	1	0	0	0	0	1	0	0	0	3264	739	26	2	3752	2	CENPJ	13	25486836	Missense_Mutation	SNP	C	TCGA-E1-5305-01A-01D-1893-08		25486836	89683042	25	42874											
COG3	83548	broad.mit.edu	37	chr13	46092961	46092961	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaggctgaatagcaacaaTgccttgatagagttcttgtt	11	15	9	6	0	1	3	0	2	1	1	1	3	1	3	1	1	3	4	1	1	6	8			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr13:46092961T>C	ENST00000349995.5	+	18	2107	c.1995T>C	c.(1993-1995)aaT>aaC	p.N665N		NM_031431.3	NP_113619	Q96JB2	COG3_HUMAN	component of oligomeric golgi complex 3	665					ER to Golgi vesicle-mediated transport|intra-Golgi vesicle-mediated transport|intracellular protein transport|protein glycosylation|protein localization to organelle|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	cis-Golgi network|Golgi cisterna membrane|Golgi transport complex	protein binding|protein transporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|stomach(1)	24		Lung NSC(96;0.000145)|Breast(56;0.000596)|Prostate(109;0.00438)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000124)		ATAGCAACAATGCCTTGATAG	0.393													C	46092961	T	C	46092961	2	2	440	1	0	0	0	0	0	0	0	1	3690	1461	51	3		3	COG3	13	46092961	Silent	SNP	T	TCGA-E1-5305-01A-01D-1893-08	20606125	46092961	69076917	26	42875											
HNRNPC	3183	broad.mit.edu	37	chr14	21679388	21679414	+	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	GTCATCCTCGCCATTGGCGCTGTCTCT	-																															accccactatgtgcttaagaGtcatcctcgccattggcgct																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr14:21679388_21679414delGTCATCCTCGCCATTGGCGCTGTCTCT	ENST00000430246.2	-	8	3801_3827	c.850_876delAGAGACAGCGCCAATGGCGAGGATGAC	c.(850-876)agagacagcgccaatggcgaggatgacdel	p.RDSANGEDD284del	HNRNPC_ENST00000420743.2_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000556897.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000336053.6_3'UTR|HNRNPC_ENST00000555309.1_In_Frame_Del_p.RDSANGEDD296del|HNRNPC_ENST00000556513.1_3'UTR|HNRNPC_ENST00000556628.1_In_Frame_Del_p.RDSANGEDD217del|HNRNPC_ENST00000554969.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553300.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000449098.1_In_Frame_Del_p.RDSANGEDD284del|HNRNPC_ENST00000553753.1_3'UTR|HNRNPC_ENST00000555883.1_In_Frame_Del_p.RDSANGEDD241del|HNRNPC_ENST00000554455.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000556142.1_3'UTR|HNRNPC_ENST00000320084.7_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000557201.1_In_Frame_Del_p.RDSANGEDD297del|HNRNPC_ENST00000555914.1_In_Frame_Del_p.RDSANGEDD283del			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	297	Asp/Glu-rich (acidic).					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		GTGCTTAAGAGTCATCCTCGCCATTGGCGCTGTCTCTGTCATCCTCT	0.445													-	21679414	GTCATCCTCGCCATTGGCGCTGTCTCT	-	21679388	7	5	440	1	0	1	0	1	0	0	0	0	7317	1020	36	0	9	0	HNRNPC	14	21679388	In_Frame_Del	DEL	GTCATCCTCGCCATTGGCGCTGTCTCT	TCGA-E1-5305-01A-01D-1893-08		21679388	85670152	27	42876											
DMXL2	23312	broad.mit.edu	37	chr15	51791722	51791724	+	In_Frame_Del	DEL	AAG	AAG	-																															gataccaagtctatagatctAagaagaacccatcttgactt																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr15:51791722_51791724delAAG	ENST00000251076.5	-	18	3984_3986	c.3697_3699delCTT	c.(3697-3699)cttdel	p.L1233del	DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_In_Frame_Del_p.L1233del	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1233						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		CTATAGATCTAAGAAGAACCCAT	0.424													-	51791724	AAG	-	51791722	7	5	440	1	0	1	0	1	0	0	0	0	4634	349	13	0	5518	0	DMXL2	15	51791722	In_Frame_Del	DEL	AAG	TCGA-E1-5305-01A-01D-1893-08		51791722	50739670	28	42877											
GSPT1	2935	broad.mit.edu	37	chr16	12009530	12009531	+	In_Frame_Ins	INS	-	-	CCG																															tgctgctgccgctgctgctcINSccgccgccgccgccgccgcc																								rs71408216		TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr16:12009530_12009531insCCG	ENST00000434724.2	-	1	246_247	c.47_48insCGG	c.(46-48)ggg>ggCGGg	p.16_16G>GG	AC007216.1_ENST00000583357.1_RNA|GSPT1_ENST00000439887.2_In_Frame_Ins_p.16_16G>GG|GSPT1_ENST00000420576.2_Intron	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	43					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						cgctgctgctcccgccgccgcc	0.772													CCG	12009531	-	CCG	12009530	7	5	440	1	0	1	1	0	0	0	0	0	6881	842	30	0	1925	0	GSPT1	16	12009530	In_Frame_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		12009530	78345223	29	42878											
FXR2	9513	broad.mit.edu	37	chr17	7496341	7496341	+	Frame_Shift_Del	DEL	G	G	-																															attgtatctcgaagtgggccGgggggcaggtgggggtcccc																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7496341delG	ENST00000250113.7	-	13	1823	c.1489delC	c.(1489-1491)cggfs	p.R497fs		NM_004860.3	NP_004851.2	P51116	FXR2_HUMAN	fragile X mental retardation, autosomal homolog 2	497						cytosolic large ribosomal subunit	protein binding|RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)	26				READ - Rectum adenocarcinoma(115;0.17)		GAAGTGGGCCGGGGGGCAGGT	0.617													-	7496341	G	-	7496341	7	5	440	1	0	1	0	1	0	0	0	0	6168	1115	39	0	452	0	FXR2	17	7496341	Frame_Shift_Del	DEL	G	TCGA-E1-5305-01A-01D-1893-08		7496341	73698869	30	42879											
TP53	7157	broad.mit.edu	37	chr17	7577129	7577129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcacaaacacgcacctcaAagctgttccgtcccagtaga	13	6	8	14	2	1	1	1	0	0	1	3	1	3	1	3	1	2	5	3	1	3	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:7577129A>G	ENST00000420246.2	-	8	941	c.809T>C	c.(808-810)tTt>tCt	p.F270S	TP53_ENST00000445888.2_Missense_Mutation_p.F270S|TP53_ENST00000455263.2_Missense_Mutation_p.F270S|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.F270S|TP53_ENST00000359597.4_Missense_Mutation_p.F270S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	270	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		F -> C (in sporadic cancers; somatic mutation).|F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in sporadic cancers; somatic mutation).|F -> Y (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.F270C(15)|p.0?(8)|p.F270S(8)|p.F270Y(5)|p.?(2)|p.G266_E271delGRNSFE(2)|p.G262_F270delGNLLGRNSF(2)|p.F270fs*72(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.S269fs*34(1)|p.F270_D281del12(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)		ACGCACCTCAAAGCTGTTCCG	0.537		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)			G	7577129	A	G	7577129	3	3	440	1	0	0	0	0	1	0	0	0	16482	14	1	3	477	3	TP53	17	7577129	Missense_Mutation	SNP	A	TCGA-E1-5305-01A-01D-1893-08	80788	7577129	73618081	31	42880											
MYOCD	93649	broad.mit.edu	37	chr17	12666629	12666629	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcacccttctaaaaattGggagcgaagagcctcacttt	12	11	8	10	1	3	1	2	0	1	1	3	3	3	2	2	1	2	0	2	1	4	4			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:12666629G>A	ENST00000425538.1	+	14	2829	c.2629G>A	c.(2629-2631)Ggg>Agg	p.G877R	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.G829R	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	829					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TCTAAAAATTGGGAGCGAAGA	0.483													A	12666629	G	A	12666629	3	1	440	1	0	0	0	0	1	0	0	0	10163	1348	47	2	2695	2	MYOCD	17	12666629	Missense_Mutation	SNP	G	TCGA-E1-5305-01A-01D-1893-08	5089500	12666629	68528581	32	42881											
ENGASE	64772	broad.mit.edu	37	chr17	77079175	77079177	+	In_Frame_Del	DEL	AGA	AGA	-																															ctgggtgtatgagtgtctggAgaagaaggatttcttccaga																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr17:77079175_77079177delAGA	ENST00000579016.1	+	8	1112_1114	c.1112_1114delAGA	c.(1111-1116)gagaag>gag	p.K373del	ENGASE_ENST00000584568.1_3'UTR	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	373	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GAGTGTCTGGAGAAGAAGGATTT	0.562											OREG0024792	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	77079177	AGA	-	77079175	7	5	440	1	0	1	0	1	0	0	0	0	5159	304	11	0	1142	0	ENGASE	17	77079175	In_Frame_Del	DEL	AGA	TCGA-E1-5305-01A-01D-1893-08	64412546	77079175	4116035	33	42882											
CDC34	997	broad.mit.edu	37	chr19	537058	537060	+	In_Frame_Del	DEL	CTT	CTT	-																															ctcctgaacgagcccaacacCttctcgcccgcaaacgtgga																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr19:537058_537060delCTT	ENST00000215574.4	+	4	626_628	c.408_410delCTT	c.(406-411)accttc>acc	p.F137del		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	137					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		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)		AGCCCAACACCTTCTCGCCCGCA	0.635													-	537060	CTT	-	537058	7	5	440	1	0	1	0	1	0	0	0	0	3097	668	24	0	422	0	CDC34	19	537058	In_Frame_Del	DEL	CTT	TCGA-E1-5305-01A-01D-1893-08		537058	58591925	34	42883											
LBP	3929	broad.mit.edu	37	chr20	36983811	36983811	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagtactggagagcagggTaagaaggtccaagcctctgg	13	6	15	7	0	1	2	0	0	1	2	2	4	2	2	2	4	3	3	2	4	5	2			TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr20:36983811T>A	ENST00000217407.2	+	5	749		c.e5+2			NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein						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)				GAGAGCAGGGTAAGAAGGTCC	0.572													A	36983811	T	A	36983811	5	1	440	1	0	0	0	0	0	0	1	0	8710	1652	57	5	608	5	LBP	20	36983811	Splice_Site	SNP	T	TCGA-E1-5305-01A-01D-1893-08		36983811	26041709	35	42884											
IFNGR2	3460	broad.mit.edu	37	chr21	34799292	34799292	+	Frame_Shift_Del	DEL	T	T	-																															tcgctgatacctccacggccTttttttgttattatgtccat																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chr21:34799292delT	ENST00000290219.6	+	4	1162	c.514delT	c.(514-516)tttfs	p.F173fs	IFNGR2_ENST00000381995.1_Frame_Shift_Del_p.F192fs|IFNGR2_ENST00000405436.1_Frame_Shift_Del_p.F94fs	NM_005534.3	NP_005525.2	P38484	INGR2_HUMAN	interferon gamma receptor 2 (interferon gamma transducer 1)	173	Fibronectin type-III 2.				regulation of interferon-gamma-mediated signaling pathway|response to virus	endoplasmic reticulum|integral to plasma membrane	interferon-gamma receptor activity			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(1)	13					Interferon gamma-1b(DB00033)	CTCCACGGCCTTTTTTTGTTA	0.458													-	34799292	T	-	34799292	7	5	440	1	0	1	0	1	0	0	0	0	7608	1609	56	0	528	0	IFNGR2	21	34799292	Frame_Shift_Del	DEL	T	TCGA-E1-5305-01A-01D-1893-08		34799292	13330603	36	42885											
ATRX	546	broad.mit.edu	37	chrX	76778848	76778849	+	Frame_Shift_Ins	INS	-	-	GTATC																															tcctacaatgtgttctttatINSgtatctgaaggagctctgca																										TCGA-E1-5305-01A-01D-1893-08	TCGA-E1-5305-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e66ac-e905-436d-8aee-4da7b8e1df1d	a676be18-91f6-45cd-82d5-a604293c8583	g.chrX:76778848_76778849insGTATC	ENST00000373344.5	-	31	6944_6945	c.6730_6731insGATAC	c.(6730-6732)catfs	p.H2244fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.H2206fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2244					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			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)	GTGTTCTTTATGTATCTGAAGG	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						GTATC	76778849	-	GTATC	76778848	7	5	440	1	0	1	1	0	0	0	0	0	1213	1464	51	0	767	0	ATRX	23	76778848	Frame_Shift_Ins	INS	-	TCGA-E1-5305-01A-01D-1893-08		76778848	78491712	37	42886											
VPS13D	55187	broad.mit.edu	37	chr1	12378242	12378242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacactcccagtgatattaAgaaacaaaatcatgttactc	16	10	4	11	0	1	2	1	1	0	1	3	2	2	2	2	0	2	1	2	0	6	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:12378242A>G	ENST00000358136.3	+	31	7392	c.7262A>G	c.(7261-7263)aAg>aGg	p.K2421R	VPS13D_ENST00000356315.4_Missense_Mutation_p.K2421R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	2421					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGATATTAAGAAACAAAAT	0.428													G	12378242	A	G	12378242	3	3	441	1	0	0	0	0	1	0	0	0	17294	72	3	3	7380	3	VPS13D	1	12378242	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		12378242	236872379	1	42887											
KIF17	57576	broad.mit.edu	37	chr1	20992723	20992723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaggctcttcctggcGtctgtgctgaggatctggct	4	13	13	11	1	4	2	1	2	3	0	5	3	5	3	1	4	1	3	1	4	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:20992723G>A	ENST00000247986.2	-	14	3205	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_ENST00000400463.3_Silent_p.D964D|KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.D865D			Q9P2E2	KIF17_HUMAN	kinesin family member 17	965					microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													A	20992723	G	A	20992723	2	1	441	1	0	0	0	0	0	0	0	1	8337	1136	40	1		1	KIF17	1	20992723	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	8614481	20992723	228257898	2	42888											
LRIG2	9860	broad.mit.edu	37	chr1	113637236	113637236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactatttttgttaaagggAacttaaaagaaacagaatta	20	12	6	3	0	0	2	0	0	0	2	0	3	0	3	0	1	3	1	0	1	10	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:113637236A>G	ENST00000361127.5	+	6	860	c.662A>G	c.(661-663)gAa>gGa	p.E221G		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2							cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTAAAGGGAACTTAAAAGA	0.303													G	113637236	A	G	113637236	3	3	441	1	0	0	0	0	1	0	0	0	9015	246	9	3	684	3	LRIG2	1	113637236	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	92644513	113637236	135613385	3	42889											
PTGFRN	5738	broad.mit.edu	37	chr1	117504195	117504195	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagaggcaattattactGtgttgtgtctgcctggacca	10	12	11	8	0	1	2	0	0	1	2	1	3	1	3	2	2	2	2	2	2	3	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:117504195G>C	ENST00000393203.2	+	5	1691	c.1544G>C	c.(1543-1545)tGt>tCt	p.C515S		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	515	Ig-like C2-type 4.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AATTATTACTGTGTTGTGTCT	0.453													C	117504195	G	C	117504195	3	2	441	1	0	0	0	0	1	0	0	0	12836	1377	48	4	1562	4	PTGFRN	1	117504195	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	3866959	117504195	131746426	4	42890											
WARS2	10352	broad.mit.edu	37	chr1	119683216	119683216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcggatcccttatgaagtgCccggatgaagctccagcgct	8	9	12	12	3	0	2	0	2	0	0	2	4	2	4	3	2	4	2	3	2	3	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:119683216C>T	ENST00000369426.5	-	1	55	c.52G>A	c.(52-54)Gca>Aca	p.A18T	RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000235521.4_Missense_Mutation_p.A18T|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000425884.1_RNA			Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	18					tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTATGAAGTGCCCGGATGAAG	0.597													T	119683216	C	T	119683216	3	4	441	1	0	0	0	0	1	0	0	0	17352	739	26	2	1083	2	WARS2	1	119683216	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	2179021	119683216	129567405	5	42891											
LRRN2	10446	broad.mit.edu	37	chr1	204587235	204587235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatggcaatgagcccaGgacggtcccctaaggctctg	9	6	13	13	1	1	1	0	1	1	0	2	3	2	3	4	5	1	2	4	5	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:204587235G>A	ENST00000367175.1	-	1	4098	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	LRRN2_ENST00000367176.3_Missense_Mutation_p.P629L|LRRN2_ENST00000367177.3_Missense_Mutation_p.P629L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	629					cell adhesion	integral to membrane	receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AATGAGCCCAGGACGGTCCCC	0.627													A	204587235	G	A	204587235	3	1	441	1	0	0	0	0	1	0	0	0	9105	1000	35	2	259	2	LRRN2	1	204587235	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	84904019	204587235	44663386	6	42892											
PM20D1	148811	broad.mit.edu	37	chr1	205819185	205819185	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccagggccagcacgcaaaCgcaccgctgagccatgcttc	10	4	10	17	3	0	1	0	1	0	0	1	1	0	1	4	1	4	5	4	1	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:205819185C>A	ENST00000367136.4	-	1	60	c.16G>T	c.(16-18)Gtt>Ttt	p.V6F	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	6						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCACGCAAACGCACCGCTGA	0.602													A	205819185	C	A	205819185	3	1	441	1	0	0	0	0	1	0	0	0	12205	536	19	4	1544	4	PM20D1	1	205819185	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	1231950	205819185	43431436	7	42893											
OR13G1	441933	broad.mit.edu	37	chr1	247835572	247835572	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtatagctggaagcagggcGgatataggtgtagattacag	12	10	15	4	1	0	1	0	0	0	1	0	3	0	3	0	4	3	4	0	4	7	6	rs117404602	by1000genomes	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:247835572G>T	ENST00000359688.2	-	1	793	c.772C>A	c.(772-774)Cgc>Agc	p.R258S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGCAGGGCGGATATAGGTG	0.463													T	247835572	G	T	247835572	3	4	441	1	0	0	0	0	1	0	0	0	11018	1116	39	4	155	4	OR13G1	1	247835572	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	42016387	247835572	1415049	8	42894											
TMEM131	23505	broad.mit.edu	37	chr2	98388789	98388789	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctgttgggatttctttCttaatatttaagagtttttt	9	22	6	4	0	3	1	0	0	3	1	3	2	3	2	0	1	0	2	0	1	3	10			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:98388789C>T	ENST00000186436.5	-	33	4647	c.4419G>A	c.(4417-4419)aaG>aaA	p.K1473K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1473	Lys-rich.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGATTTCTTTCTTAATATTTA	0.363													T	98388789	C	T	98388789	2	4	441	1	0	0	0	0	0	0	0	1	16144	912	32	2		2	TMEM131	2	98388789	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		98388789	144810584	9	42895											
CNGA3	1261	broad.mit.edu	37	chr2	99006190	99006190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtactaccgctggctgacCgccatcgccctgcctgtctt	4	11	9	17	3	1	1	0	1	1	0	2	1	1	1	5	1	3	3	5	1	2	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:99006190C>T	ENST00000393504.1	+	6	936	c.519C>T	c.(517-519)acC>acT	p.T173T	CNGA3_ENST00000272602.2_Silent_p.T173T|CNGA3_ENST00000409937.1_Silent_p.T177T|CNGA3_ENST00000436404.2_Silent_p.T155T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	173					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTGGCTGACCGCCATCGCCC	0.557													T	99006190	C	T	99006190	2	4	441	1	0	0	0	0	0	0	0	1	3629	639	23	1		1	CNGA3	2	99006190	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	617401	99006190	144193183	10	42896											
IL1B	3553	broad.mit.edu	37	chr2	113591147	113591147	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaggtccaggtcctggaaGgagcactgcggagagagcga	11	4	17	9	2	0	2	0	0	0	2	2	7	2	5	2	5	3	1	2	5	1	0			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:113591147G>A	ENST00000263341.2	-	4	315	c.105C>T	c.(103-105)tcC>tcT	p.S35S	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	35					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	GGTCCTGGAAGGAGCACTGCG	0.597													A	113591147	G	A	113591147	2	1	441	1	0	0	0	0	0	0	0	1	7709	987	35	2		2	IL1B	2	113591147	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	14584957	113591147	129608226	11	42897											
DPP10	57628	broad.mit.edu	37	chr2	116538514	116538514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcatgaaagaacaatgtAcatattttgatgccagtttt	14	16	6	5	0	1	3	1	2	0	1	1	3	1	3	1	0	3	2	1	0	5	7			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:116538514A>G	ENST00000410059.1	+	16	1906	c.1426A>G	c.(1426-1428)Aca>Gca	p.T476A	DPP10_ENST00000310323.8_Missense_Mutation_p.T469A|DPP10_ENST00000409163.1_Missense_Mutation_p.T426A|DPP10_ENST00000393147.2_Missense_Mutation_p.T480A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	476					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAACAATGTACATATTTTGA	0.284													G	116538514	A	G	116538514	3	3	441	1	0	0	0	0	1	0	0	0	4766	391	14	3	1659	3	DPP10	2	116538514	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	2947367	116538514	126660859	12	42898											
CCDC93	54520	broad.mit.edu	37	chr2	118731539	118731539	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagagcagagtcccacaAtctggcccacggagcttgcg	10	5	12	14	2	1	2	0	0	1	2	2	3	2	3	2	2	4	3	2	2	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:118731539A>G	ENST00000376300.2	-	11	970	c.833T>C	c.(832-834)aTt>aCt	p.I278T	CCDC93_ENST00000319432.5_Missense_Mutation_p.I277T|CCDC93_ENST00000460781.1_5'UTR	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	278										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGTCCCACAATCTGGCCCAC	0.537													G	118731539	A	G	118731539	3	3	441	1	0	0	0	0	1	0	0	0	2900	101	4	3	1118	3	CCDC93	2	118731539	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08	2193025	118731539	124467834	13	42899											
NEB	4703	broad.mit.edu	37	chr2	152374910	152374910	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgtggtagtggcctttactCttctcatacttcttcttgta	5	19	8	9	0	4	0	1	0	4	0	5	0	4	0	1	2	2	2	1	2	4	9			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152374910C>G	ENST00000427231.2	-	156	22924	c.22722G>C	c.(22720-22722)aaG>aaC	p.K7574N	NEB_ENST00000397345.3_Missense_Mutation_p.K7574N|NEB_ENST00000603639.1_Missense_Mutation_p.K7574N|NEB_ENST00000409198.1_Missense_Mutation_p.K5873N|NEB_ENST00000172853.10_Missense_Mutation_p.K5873N|NEB_ENST00000604864.1_Missense_Mutation_p.K7574N	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5873					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTTACTCTTCTCATACT	0.433													G	152374910	C	G	152374910	3	3	441	1	0	0	0	0	1	0	0	0	10378	912	32	4	2963	4	NEB	2	152374910	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	33643371	152374910	90824463	14	42900											
NEB	4703	broad.mit.edu	37	chr2	152376199	152376199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaagattattagcatctttCatgactttgtagagctggct	10	15	9	7	0	2	3	1	1	1	2	2	3	2	3	0	1	2	5	0	1	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152376199C>T	ENST00000427231.2	-	154	22765	c.22563G>A	c.(22561-22563)atG>atA	p.M7521I	NEB_ENST00000397345.3_Missense_Mutation_p.M7521I|NEB_ENST00000603639.1_Missense_Mutation_p.M7521I|NEB_ENST00000409198.1_Missense_Mutation_p.M5820I|NEB_ENST00000172853.10_Missense_Mutation_p.M5820I|NEB_ENST00000604864.1_Missense_Mutation_p.M7521I	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5820					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATCTTTCATGACTTTGT	0.323													T	152376199	C	T	152376199	3	4	441	1	0	0	0	0	1	0	0	0	10378	826	29	2	3130	2	NEB	2	152376199	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	1289	152376199	90823174	15	42901											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	441	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	56736913	209113112	34086261	16	42902											
SETMAR	6419	broad.mit.edu	37	chr3	4354791	4354791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgaatgcaatgtcctgtgCcgatgcagtgaccactgcag	9	11	11	10	1	0	2	0	2	0	0	1	3	1	2	3	0	4	3	3	0	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:4354791C>T	ENST00000358065.4	+	2	433	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SETMAR_ENST00000430981.1_Silent_p.C122C|SETMAR_ENST00000425863.1_Silent_p.C122C|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	109	Histone-lysine N-methyltransferase.|Pre-SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATGTCCTGTGCCGATGCAGTG	0.468								Chromatin Structure					T	4354791	C	T	4354791	2	4	441	1	0	0	0	0	0	0	0	1	14233	747	26	2		2	SETMAR	3	4354791	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		4354791	193667639	17	42903											
PBRM1	55193	broad.mit.edu	37	chr3	52595944	52595944	+	Frame_Shift_Del	DEL	C	C	-																															tgttgattttccgtttggagCcttccttctttgcactgcct																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:52595944delC	ENST00000356770.4	-	24	4033	c.4031delG	c.(4030-4032)ggcfs	p.G1344fs	PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G1324fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G1391fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G1391fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G1351fs|SMIM4_ENST00000476842.1_Intron			Q86U86	PB1_HUMAN	polybromo 1	1376					chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGTTTGGAGCCTTCCTTCTT	0.463			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52595944	C	-	52595944	7	5	441	1	0	1	0	1	0	0	0	0	11567	739	26	0	797	0	PBRM1	3	52595944	Frame_Shift_Del	DEL	C	TCGA-E1-5307-01A-01D-1893-08	48241153	52595944	145426486	18	42904											
OR5H2	79310	broad.mit.edu	37	chr3	98002530	98002530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatcttcatgtatttgcgcCctgcatctccacaagcagat	9	14	6	12	1	3	1	1	0	2	1	4	1	3	1	2	0	3	3	2	0	3	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:98002530C>T	ENST00000355273.2	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTATTTGCGCCCTGCATCTCC	0.398													T	98002530	C	T	98002530	3	4	441	1	0	0	0	0	1	0	0	0	11238	623	22	2	801	2	OR5H2	3	98002530	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	45406586	98002530	100019900	19	42905											
TMCC1	23023	broad.mit.edu	37	chr3	129389499	129389499	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcatcatccacttgcccTtcctctaaagagtccttcag	8	11	5	17	1	3	1	2	0	1	1	6	1	6	1	5	0	1	1	5	0	2	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:129389499T>C	ENST00000393238.3	-	4	1525	c.1185A>G	c.(1183-1185)gaA>gaG	p.E395E	TMCC1_ENST00000329333.5_Silent_p.E216E|TMCC1_ENST00000426664.2_Silent_p.E281E|TMCC1_ENST00000432054.2_Silent_p.E71E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	395						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCACTTGCCCTTCCTCTAAAG	0.478													C	129389499	T	C	129389499	2	2	441	1	0	0	0	0	0	0	0	1	16092	1606	56	3		3	TMCC1	3	129389499	Silent	SNP	T	TCGA-E1-5307-01A-01D-1893-08	31386969	129389499	68632931	20	42906											
RNF168	165918	broad.mit.edu	37	chr3	196229803	196229803	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccctgggatagtgttttTgaattatcgtccacagttcc	8	15	8	10	1	0	1	0	1	0	0	4	2	3	2	3	1	0	2	3	1	3	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:196229803T>C	ENST00000318037.3	-	1	836	c.242A>G	c.(241-243)cAa>cGa	p.Q81R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	81					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATAGTGTTTTTGAATTATCGT	0.512													C	196229803	T	C	196229803	3	2	441	1	0	0	0	0	1	0	0	0	13550	1812	63	3	1497	3	RNF168	3	196229803	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	66840304	196229803	1792627	21	42907											
PDHA2	5161	broad.mit.edu	37	chr4	96762461	96762461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggatcaagtttaagtccgTcagttaaagggaggctacgt	12	11	12	6	2	2	0	2	0	0	0	3	2	3	2	1	3	1	3	1	3	5	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:96762461T>C	ENST00000295266.4	+	1	1223	c.1160T>C	c.(1159-1161)gTc>gCc	p.V387A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	387					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	TTTAAGTCCGTCAGTTAAAGG	0.398													C	96762461	T	C	96762461	3	2	441	1	0	0	0	0	1	0	0	0	11741	1667	58	3	1162	3	PDHA2	4	96762461	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08		96762461	94391815	22	42908											
EGF	1950	broad.mit.edu	37	chr4	110895897	110895897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgatttaaatgggaaacGttccaaaataatcactaagg	17	10	9	5	1	1	1	1	1	0	0	2	3	2	2	1	2	1	1	1	2	7	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:110895897G>A	ENST00000265171.5	+	12	2208	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	EGF_ENST00000509793.1_Missense_Mutation_p.R546H|EGF_ENST00000503392.1_Missense_Mutation_p.R588H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AATGGGAAACGTTCCAAAATA	0.353													A	110895897	G	A	110895897	3	1	441	1	0	0	0	0	1	0	0	0	5001	1145	40	1	1809	1	EGF	4	110895897	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	14133436	110895897	80258379	23	42909											
MYO10	4651	broad.mit.edu	37	chr5	16694556	16694556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcagcttggactggcGgaggacaaaccagcgcttct	10	8	12	11	2	2	0	1	0	1	0	2	3	2	3	1	4	4	3	1	4	2	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:16694556G>A	ENST00000513610.1	-	27	4178	c.3724C>T	c.(3724-3726)Cgc>Tgc	p.R1242C	MYO10_ENST00000274203.9_Missense_Mutation_p.R599C|MYO10_ENST00000505695.1_Missense_Mutation_p.R581C|MYO10_ENST00000515803.1_Missense_Mutation_p.R581C|MYO10_ENST00000427430.2_Missense_Mutation_p.R599C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTGGACTGGCGGAGGACAAAC	0.567													A	16694556	G	A	16694556	3	1	441	1	0	0	0	0	1	0	0	0	10138	1116	39	1	2512	1	MYO10	5	16694556	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		16694556	164220704	24	42910											
IL6ST	3572	broad.mit.edu	37	chr5	55250757	55250757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagattcccttggagtaGtccattccacccaaagcatg	11	11	7	12	0	0	1	0	0	0	1	3	2	3	2	4	1	2	2	4	1	3	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:55250757G>A	ENST00000381298.2	-	11	1643	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000336909.5_Missense_Mutation_p.T444I|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T444I|IL6ST_ENST00000381287.4_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	444	Fibronectin type-III 4.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTTGGAGTAGTCCATTCCAC	0.368			O		hepatocellular ca								A	55250757	G	A	55250757	3	1	441	1	0	0	0	0	1	0	0	0	7761	1029	36	2	1453	2	IL6ST	5	55250757	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	38556201	55250757	125664503	25	42911											
RASA1	5921	broad.mit.edu	37	chr5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	TTATC	-																															caggcagggaagtctggcagTtatcttataagagagagtga																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:86627234_86627238delTTATC	ENST00000456692.2	+	2	193_197	c.78_82delTTATC	c.(76-84)agttatcttfs	p.YL27fs	RASA1_ENST00000274376.6_Frame_Shift_Del_p.YL204fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.YL38fs|RASA1_ENST00000512763.1_Frame_Shift_Del_p.YL37fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	204					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)		AGTCTGGCAGTTATCTTATAAGAGA	0.415													-	86627238	TTATC	-	86627234	7	5	441	1	0	1	0	1	0	0	0	0	13148	1722	60	0	627	0	RASA1	5	86627234	Frame_Shift_Del	DEL	TTATC	TCGA-E1-5307-01A-01D-1893-08	31376477	86627234	94288026	26	42912											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769361	140769361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgacagggacgccgtccGccagcgccttctggtcgccg	5	5	15	16	7	1	0	0	0	1	0	3	2	2	1	5	3	1	0	5	3	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:140769361G>A	ENST00000519479.1	+	1	1910	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGTCCGCCAGCGCCTT	0.692													A	140769361	G	A	140769361	3	1	441	1	0	0	0	0	1	0	0	0	11641	1087	38	1	1912	1	PCDHGB4	5	140769361	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	54142127	140769361	40145899	27	42913											
WRNIP1	56897	broad.mit.edu	37	chr6	2770460	2770463	+	Frame_Shift_Del	DEL	TGAT	TGAT	-																															tcttctgagccgctgtcgagTgattgttcttgagaagcttc																								rs144020288		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:2770460_2770463delTGAT	ENST00000380769.4	+	3	692_695	c.461_464delTGAT	c.(460-465)gtgattfs	p.VI154fs	WRNIP1_ENST00000380773.4_Frame_Shift_Del_p.VI374fs|WRNIP1_ENST00000380771.4_Frame_Shift_Del_p.VI349fs|WRNIP1_ENST00000380764.1_5'UTR			Q96S55	WRIP1_HUMAN	Werner helicase interacting protein 1	374					DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CGCTGTCGAGTGATTGTTCTTGAG	0.52													-	2770463	TGAT	-	2770460	7	5	441	1	0	1	0	1	0	0	0	0	17505	1696	59	0	1131	0	WRNIP1	6	2770460	Frame_Shift_Del	DEL	TGAT	TCGA-E1-5307-01A-01D-1893-08		2770460	168344607	28	42914											
DHX16	8449	broad.mit.edu	37	chr6	30632747	30632747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttctgctgggcctgagttGaagtgggtggagctgacggc	5	11	17	8	1	1	3	0	3	1	0	1	4	1	4	1	4	2	3	1	4	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:30632747G>A	ENST00000376442.3	-	7	1343	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L		NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	383					mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			kidney(2)|ovary(2)	4						GGCCTGAGTTGAAGTGGGTGG	0.567													A	30632747	G	A	30632747	3	1	441	1	0	0	0	0	1	0	0	0	4541	1294	45	2	2033	2	DHX16	6	30632747	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	27862287	30632747	140482320	29	42915											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs			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													-	42196333	T	-	42196333	7	5	441	1	0	1	0	1	0	0	0	0	16576	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-E1-5307-01A-01D-1893-08	11563586	42196333	128918734	30	42916											
MEP1A	4224	broad.mit.edu	37	chr6	46803179	46803179	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggtcggtggagaacacaggCcccctggaggaccataactg	10	5	14	12	2	0	1	0	0	0	1	1	4	0	3	3	6	2	0	3	6	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:46803179C>T	ENST00000230588.4	+	13	1986	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	659					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAACACAGGCCCCCTGGAGG	0.587													T	46803179	C	T	46803179	2	4	441	1	0	0	0	0	0	0	0	1	9550	726	26	2		2	MEP1A	6	46803179	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	4606846	46803179	124311888	31	42917											
SDK1	221935	broad.mit.edu	37	chr7	4026875	4026875	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaattcttcccacagccaCgccgtggtgctctcttgggt	5	12	9	15	2	2	0	0	0	2	0	4	0	3	0	4	2	2	1	4	2	1	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:4026875C>T	ENST00000404826.2	+	14	2191	c.2052C>T	c.(2050-2052)caC>caT	p.H684H	SDK1_ENST00000389531.3_Silent_p.H684H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	684	Fibronectin type-III 1.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACAGCCACGCCGTGGTGC	0.458													T	4026875	C	T	4026875	2	4	441	1	0	0	0	0	0	0	0	1	14061	535	19	1		1	SDK1	7	4026875	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		4026875	155111788	32	42918											
CDHR3	222256	broad.mit.edu	37	chr7	105669001	105669001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttctgttctctgcagaaacGaagactgcagagagagacgt	12	9	12	8	2	2	4	0	0	2	4	3	7	2	4	0	0	3	4	0	0	2	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:105669001G>A	ENST00000343407.5	+	15	1741	c.784G>A	c.(784-786)Gaa>Aaa	p.E262K	CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000478080.1_Silent_p.T671T|CDHR3_ENST00000542731.1_Silent_p.T759T|CDHR3_ENST00000317716.9_Silent_p.T759T			Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	0	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTGCAGAAACGAAGACTGCAG	0.537													A	105669001	G	A	105669001	3	1	441	1	0	0	0	0	1	0	0	0	3150	1045	37	1	2343	1	CDHR3	7	105669001	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	101642126	105669001	53469662	33	42919											
FLNC	2318	broad.mit.edu	37	chr7	128488741	128488741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcgacgcacgggacgcGggcgaggggttgctcactgt	7	6	16	12	6	1	0	1	0	0	0	2	3	1	1	1	4	1	3	1	4	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:128488741G>A	ENST00000325888.8	+	27	4968	c.4707G>A	c.(4705-4707)gcG>gcA	p.A1569A	FLNC_ENST00000346177.6_Silent_p.A1569A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1569					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACGGGACGCGGGCGAGGGGT	0.657													A	128488741	G	A	128488741	2	1	441	1	0	0	0	0	0	0	0	1	5984	1103	39	1		1	FLNC	7	128488741	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	22819740	128488741	30649922	34	42920											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138711561	138711561	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggccttgtgaatgctcaGtcgaaggtgatgaattatct	11	12	11	7	1	2	3	1	3	1	0	3	4	2	3	1	2	1	1	1	2	5	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:138711561G>C	ENST00000275766.1	-	4	790	c.779C>G	c.(778-780)aCt>aGt	p.T260S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	260										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TGAATGCTCAGTCGAAGGTGA	0.517													C	138711561	G	C	138711561	3	2	441	1	0	0	0	0	1	0	0	0	17677	1029	36	4	131	4	ZC3HAV1L	7	138711561	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	10222820	138711561	20427102	35	42921											
DLC1	10395	broad.mit.edu	37	chr8	12946019	12946019	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacgtagtctcgagcAggatgaggtgccatactgtt	13	9	11	8	2	1	1	0	1	1	0	2	3	1	2	1	2	5	3	1	2	5	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:12946019A>C	ENST00000276297.4	-	16	4678	c.4269T>G	c.(4267-4269)ccT>ccG	p.P1423P	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000520226.1_Silent_p.P912P|DLC1_ENST00000512044.2_Silent_p.P1020P|DLC1_ENST00000358919.2_Silent_p.P986P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	1423	START.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTCTCGAGCAGGATGAGGTG	0.423													C	12946019	A	C	12946019	2	2	441	1	0	0	0	0	0	0	0	1	4589	175	7	5		5	DLC1	8	12946019	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08		12946019	133418003	36	42922											
MTUS1	57509	broad.mit.edu	37	chr8	17581236	17581236	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctattgagggggtgctTcctgtcctccgcagcgcagg	4	10	15	12	2	0	1	0	1	0	0	3	1	3	1	3	4	2	4	3	4	1	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:17581236T>G	ENST00000262102.6	-	4	2618	c.2394A>C	c.(2392-2394)ggA>ggC	p.G798G	MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	798						Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGGGGTGCTTCCTGTCCTCC	0.483													G	17581236	T	G	17581236	2	3	441	1	0	0	0	0	0	0	0	1	10041	1770	62	5		5	MTUS1	8	17581236	Silent	SNP	T	TCGA-E1-5307-01A-01D-1893-08	4635217	17581236	128782786	37	42923											
PSD3	23362	broad.mit.edu	37	chr8	18393458	18393458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatgctgacatacatttcaTagcgggttttctgaaggcaa	12	12	10	7	1	2	2	1	2	1	0	2	3	2	2	0	2	3	3	0	2	5	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:18393458T>C	ENST00000440756.2	-	16	3047	c.2945A>G	c.(2944-2946)tAt>tGt	p.Y982C	PSD3_ENST00000286485.8_Missense_Mutation_p.Y446C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y309C|PSD3_ENST00000327040.8_Missense_Mutation_p.Y980C|PSD3_ENST00000523619.1_Missense_Mutation_p.Y915C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	981					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATACATTTCATAGCGGGTTTT	0.483													C	18393458	T	C	18393458	3	2	441	1	0	0	0	0	1	0	0	0	12733	1406	49	3	208	3	PSD3	8	18393458	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	812222	18393458	127970564	38	42924											
UNC5D	137970	broad.mit.edu	37	chr8	35406823	35406823	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacaggaactgacaatggCgaagcccttcccgaatccat	12	8	8	13	2	1	1	1	1	0	0	3	4	3	2	3	2	2	0	3	2	4	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:35406823C>T	ENST00000287272.2	+	2	137	c.117C>T	c.(115-117)ggC>ggT	p.G39G	UNC5D_ENST00000420357.1_Silent_p.G39G|UNC5D_ENST00000453357.2_Silent_p.G34G|UNC5D_ENST00000416672.1_Silent_p.G39G|UNC5D_ENST00000404895.2_Silent_p.G39G			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	39					apoptosis|axon guidance	integral to membrane	receptor activity	p.G34G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGACAATGGCGAAGCCCTTC	0.468													T	35406823	C	T	35406823	2	4	441	1	0	0	0	0	0	0	0	1	17097	755	27	1		1	UNC5D	8	35406823	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	17013365	35406823	110957199	39	42925											
RBM12B	389677	broad.mit.edu	37	chr8	94747027	94747027	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctggggatgcttgaagttatCcagttgcctcaagtcctcta	8	13	10	10	0	2	1	1	1	1	0	4	2	4	2	3	2	2	3	3	2	4	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747027C>G	ENST00000399300.2	-	3	1825	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D538H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	538							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGAAGTTATCCAGTTGCCTC	0.493													G	94747027	C	G	94747027	3	3	441	1	0	0	0	0	1	0	0	0	13202	855	30	4	1397	4	RBM12B	8	94747027	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	59340204	94747027	51616995	40	42926			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747221	94747221	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtgcctcagatataagtCttaataacacctctgtccct	10	15	5	11	0	3	1	1	0	2	1	4	1	4	1	3	0	2	0	3	0	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747221C>G	ENST00000399300.2	-	3	1631	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R473T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	473	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATATAAGTCTTAATAACAC	0.423													G	94747221	C	G	94747221	3	3	441	1	0	0	0	0	1	0	0	0	13202	913	32	4	1591	4	RBM12B	8	94747221	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	194	94747221	51616801	41	42927			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747336	94747336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaccaacacctttgtcatCataaagcaagtaaatgtcat	16	10	5	10	0	3	1	3	0	0	1	3	1	3	1	2	0	2	2	2	0	6	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747336C>T	ENST00000399300.2	-	3	1516	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D435N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	435	RRM 3.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTTTGTCATCATAAAGCAAG	0.373													T	94747336	C	T	94747336	3	4	441	1	0	0	0	0	1	0	0	0	13202	826	29	2	1706	2	RBM12B	8	94747336	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	115	94747336	51616686	42	42928			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747712	94747712	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacctaatctgttcatcagtCagatcagtacctctaaagaa	15	11	5	10	0	6	2	4	0	2	2	6	2	6	2	2	0	2	2	2	0	6	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747712C>G	ENST00000399300.2	-	3	1140	c.927G>C	c.(925-927)ctG>ctC	p.L309L	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.L309L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	309	RRM 2.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTTCATCAGTCAGATCAGTAC	0.343													G	94747712	C	G	94747712	2	3	441	1	0	0	0	0	0	0	0	1	13202	813	29	4		4	RBM12B	8	94747712	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	376	94747712	51616310	43	42929			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747854	94747854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaccgttttcgaaaatgtCtatcattaattcctcttggt	10	16	7	8	2	3	1	1	0	2	1	5	3	4	1	2	1	0	1	2	1	4	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747854C>G	ENST00000399300.2	-	3	998	c.785G>C	c.(784-786)aGa>aCa	p.R262T	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R262T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	262							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGAAAATGTCTATCATTAAT	0.398													G	94747854	C	G	94747854	3	3	441	1	0	0	0	0	1	0	0	0	13202	913	32	4	2224	4	RBM12B	8	94747854	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	142	94747854	51616168	44	42930			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747893	94747893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggagaatgttcttcagatCtcctaagaacgtcaccctcc	10	11	8	12	1	4	3	2	0	2	3	6	4	5	3	3	1	1	1	3	1	3	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747893C>T	ENST00000399300.2	-	3	959	c.746G>A	c.(745-747)aGa>aAa	p.R249K	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R249K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	249							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTCTTCAGATCTCCTAAGAAC	0.398													T	94747893	C	T	94747893	3	4	441	1	0	0	0	0	1	0	0	0	13202	913	32	2	2263	2	RBM12B	8	94747893	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	39	94747893	51616129	45	42931			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747940	94747940	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcattaccaccaaactcaatCcactgttgttctgatccttg	10	13	5	13	0	2	1	1	1	1	0	4	1	4	1	4	0	2	3	4	0	3	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747940C>A	ENST00000399300.2	-	3	912	c.699G>T	c.(697-699)tgG>tgT	p.W233C	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.W233C	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	233							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CAAACTCAATCCACTGTTGTT	0.373													A	94747940	C	A	94747940	3	1	441	1	0	0	0	0	1	0	0	0	13202	856	30	4	2310	4	RBM12B	8	94747940	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	47	94747940	51616082	46	42932			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94747956	94747956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caatccactgttgttctgatCcttgcattacttctataaat	10	17	4	10	0	2	1	0	1	2	0	4	1	4	1	2	0	2	3	2	0	5	7			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747956C>T	ENST00000399300.2	-	3	896	c.683G>A	c.(682-684)gGa>gAa	p.G228E	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.G228E	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	228	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGTTCTGATCCTTGCATTAC	0.383													T	94747956	C	T	94747956	3	4	441	1	0	0	0	0	1	0	0	0	13202	855	30	2	2326	2	RBM12B	8	94747956	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	16	94747956	51616066	47	42933			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94748053	94748053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaaattttactatggcatCaccattatttcggccatcat	12	14	5	10	1	2	0	2	0	0	0	3	0	2	0	2	2	2	2	2	2	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748053C>T	ENST00000399300.2	-	3	799	c.586G>A	c.(586-588)Gat>Aat	p.D196N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D196N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	196	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTATGGCATCACCATTATTT	0.363													T	94748053	C	T	94748053	3	4	441	1	0	0	0	0	1	0	0	0	13202	826	29	2	2423	2	RBM12B	8	94748053	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	97	94748053	51615969	48	42934			1	57		10	10	1105	C		1.171595e-28
RBM12B	389677	broad.mit.edu	37	chr8	94748131	94748131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagaaaaagacacgtacatCatcttcatttactaggtaag	17	10	7	7	1	3	2	2	0	1	2	3	3	3	2	0	1	2	2	0	1	6	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748131C>T	ENST00000399300.2	-	3	721	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D170N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	170	RRM 1.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACACGTACATCATCTTCATTT	0.393													T	94748131	C	T	94748131	3	4	441	1	0	0	0	0	1	0	0	0	13202	826	29	2	2501	2	RBM12B	8	94748131	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	78	94748131	51615891	49	42935			1	57		10	10	1105	C		1.171595e-28
DENND4C	55667	broad.mit.edu	37	chr9	19360274	19360274	+	Frame_Shift_Del	DEL	T	T	-																															aaaagacccaatcctcccccTgtttctgtgccctacttgag																										TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:19360274delT	ENST00000380432.2	+	24	4371	c.4338delT	c.(4336-4338)cctfs	p.P1446fs	DENND4C_ENST00000602925.1_Frame_Shift_Del_p.P1682fs|DENND4C_ENST00000434457.2_Frame_Shift_Del_p.P1731fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1446						integral to membrane				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCTCCCCCTGTTTCTGTGC	0.353													-	19360274	T	-	19360274	7	5	441	1	0	1	0	1	0	0	0	0	4474	1567	55	0	4432	0	DENND4C	9	19360274	Frame_Shift_Del	DEL	T	TCGA-E1-5307-01A-01D-1893-08		19360274	121853157	50	42936											
UNC13B	10497	broad.mit.edu	37	chr9	35366984	35366984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgcctcagtggctccCggaagggtaagtaattcact	8	11	10	12	1	3	0	2	0	1	0	5	1	4	1	2	3	1	3	2	3	3	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:35366984C>T	ENST00000378495.3	+	11	1430	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	UNC13B_ENST00000378496.4_Missense_Mutation_p.P403L|UNC13B_ENST00000396787.1_Missense_Mutation_p.P415L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	403					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTGGCTCCCGGAAGGGTAA	0.448													T	35366984	C	T	35366984	3	4	441	1	0	0	0	0	1	0	0	0	17087	652	23	1	1250	1	UNC13B	9	35366984	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	16006710	35366984	105846447	51	42937											
ROR2	4920	broad.mit.edu	37	chr9	94495542	94495542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggagcgggcgatggtgtactCctggcggcacaggtcgctct	5	8	17	11	4	1	0	0	0	1	0	3	2	2	1	1	6	2	3	1	6	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:94495542C>T	ENST00000375708.3	-	6	997	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ROR2_ENST00000375715.1_Missense_Mutation_p.E127K|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	267	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGTGTACTCCTGGCGGCAC	0.672													T	94495542	C	T	94495542	3	4	441	1	0	0	0	0	1	0	0	0	13618	864	30	2	2048	2	ROR2	9	94495542	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	59128558	94495542	46717889	52	42938											
ZNF462	58499	broad.mit.edu	37	chr9	109689383	109689383	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttcctactttaggatcCagaaaactatgcgaatggtg	12	11	10	8	1	0	1	0	0	0	1	2	3	2	2	2	3	3	1	2	3	6	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:109689383C>T	ENST00000277225.5	+	3	3479	c.3190C>T	c.(3190-3192)Cag>Tag	p.Q1064*	ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q1064*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1064					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTTAGGATCCAGAAAACTAT	0.453													T	109689383	C	T	109689383	4	4	441	1	0	0	0	0	0	1	0	0	18027	595	21	2	3196	2	ZNF462	9	109689383	Nonsense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	15193841	109689383	31524048	53	42939											
RGS3	5998	broad.mit.edu	37	chr9	116358026	116358026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttgctgaatacatcgCgatccaggcatgcaaggagg	11	9	12	9	2	1	1	0	1	1	0	3	4	2	2	1	3	3	3	1	3	3	2	rs144334750		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:116358026C>T	ENST00000374140.2	+	25	3601	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V|RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000343817.5_Missense_Mutation_p.A850V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1131	RGS.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATACATCGCGATCCAGGCA	0.567													T	116358026	C	T	116358026	3	4	441	1	0	0	0	0	1	0	0	0	13395	768	27	1	4162	1	RGS3	9	116358026	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	6668643	116358026	24855405	54	42940											
TRIM32	22954	broad.mit.edu	37	chr9	119461244	119461244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctttttgaaggaaatccGccgcagccccagtggcattg	9	9	12	11	2	0	1	0	1	0	0	1	2	1	2	4	3	1	3	4	3	2	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:119461244G>A	ENST00000450136.1	+	2	1384	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ASTN2_ENST00000313400.4_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R408H|ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000361209.2_Intron|ASTN2_ENST00000361477.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGGAAATCCGCCGCAGCCCC	0.517													A	119461244	G	A	119461244	3	1	441	1	0	0	0	0	1	0	0	0	16607	1087	38	1	1225	1	TRIM32	9	119461244	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	3103218	119461244	21752187	55	42941											
ANAPC2	29882	broad.mit.edu	37	chr9	140079392	140079392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgaagagctcctcgaTgcgcaggctggcgtagatgc	8	8	15	10	3	0	3	0	1	0	2	2	5	1	3	1	2	4	5	1	2	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:140079392T>C	ENST00000323927.2	-	4	1025	c.1021A>G	c.(1021-1023)Atc>Gtc	p.I341V		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGCTCCTCGATGCGCAGGCTG	0.701													C	140079392	T	C	140079392	3	2	441	1	0	0	0	0	1	0	0	0	603	1464	51	3	1487	3	ANAPC2	9	140079392	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	20618148	140079392	1134039	56	42942											
PRF1	5551	broad.mit.edu	37	chr10	72358728	72358728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctccacctcgttgtccGtgagcccttccagggccagc	5	9	10	17	2	0	1	0	1	0	0	5	1	4	1	7	1	2	1	7	1	0	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:72358728G>A	ENST00000441259.1	-	3	909	c.749C>T	c.(748-750)aCg>aTg	p.T250M	PRF1_ENST00000373209.2_Missense_Mutation_p.T250M	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	250	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCGTTGTCCGTGAGCCCTTC	0.637			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				A	72358728	G	A	72358728	3	1	441	1	0	0	0	0	1	0	0	0	12564	1145	40	1	922	1	PRF1	10	72358728	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		72358728	63176019	57	42943											
IDE	3416	broad.mit.edu	37	chr10	94266256	94266256	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcctctctttgtctttaaaCctaaaagcaacagcattcaa	13	12	5	11	0	3	0	1	0	2	0	4	0	3	0	2	1	4	2	2	1	6	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:94266256C>T	ENST00000265986.6	-	10	1325	c.1269G>A	c.(1267-1269)agG>agA	p.R423R		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	423					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGTCTTTAAACCTAAAAGCAA	0.343													T	94266256	C	T	94266256	2	4	441	1	0	0	0	0	0	0	0	1	7551	506	18	2		2	IDE	10	94266256	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08	21907528	94266256	41268491	58	42944											
BTRC	8945	broad.mit.edu	37	chr10	103281443	103281443	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgattgtgcccaagcaacgGaaactctcagcaagctatga	14	8	9	10	1	1	2	1	2	1	0	2	3	1	3	1	1	6	3	1	1	5	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:103281443G>A	ENST00000370187.3	+	5	490	c.372G>A	c.(370-372)cgG>cgA	p.R124R	BTRC_ENST00000408038.2_Silent_p.R88R|BTRC_ENST00000393441.4_Silent_p.R83R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	124					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAAGCAACGGAAACTCTCAG	0.388													A	103281443	G	A	103281443	2	1	441	1	0	0	0	0	0	0	0	1	1579	1161	41	2		2	BTRC	10	103281443	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	9015187	103281443	32253304	59	42945											
P2RY2	5029	broad.mit.edu	37	chr11	72945337	72945337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctacggcgtggtgtgcGtgcctgggctgtgtctgaac	3	12	16	10	3	1	1	0	1	1	0	2	1	2	1	2	3	4	1	2	3	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:72945337G>A	ENST00000311131.2	+	3	600	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	P2RY2_ENST00000393597.2_Missense_Mutation_p.V45M|P2RY2_ENST00000393596.2_Missense_Mutation_p.V45M	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	45					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGTGGTGTGCGTGCCTGGGCT	0.587													A	72945337	G	A	72945337	3	1	441	1	0	0	0	0	1	0	0	0	11428	1145	40	1	135	1	P2RY2	11	72945337	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		72945337	62061179	60	42946											
CEP164	22897	broad.mit.edu	37	chr11	117266823	117266823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgttgagagaagtgacagTtgaggaaaataatgcttccc	13	10	11	7	0	0	4	0	3	0	1	1	6	1	5	2	1	1	3	2	1	4	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:117266823T>C	ENST00000278935.3	+	25	3290	c.3143T>C	c.(3142-3144)gTt>gCt	p.V1048A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1048					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGTGACAGTTGAGGAAAAT	0.552													C	117266823	T	C	117266823	3	2	441	1	0	0	0	0	1	0	0	0	3279	1725	60	3	3233	3	CEP164	11	117266823	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	44321486	117266823	17739693	61	42947											
ITPR2	3709	broad.mit.edu	37	chr12	26752943	26752943	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggagttaaaaacaaattcaGatgtttatgaagaagaactt	18	12	8	3	0	1	4	1	1	0	3	1	5	1	5	0	1	2	2	0	1	8	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr12:26752943G>C	ENST00000381340.3	-	29	4194	c.3778C>G	c.(3778-3780)Ctg>Gtg	p.L1260V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1260					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					AACAAATTCAGATGTTTATGA	0.328													C	26752943	G	C	26752943	3	2	441	1	0	0	0	0	1	0	0	0	7979	933	33	4	4443	4	ITPR2	12	26752943	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		26752943	107098952	62	42948											
MTUS2	23281	broad.mit.edu	37	chr13	29600162	29600162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtggcttttattcctaatAatctgactgacagcaagccc	11	13	7	10	0	1	2	0	2	1	0	2	2	2	2	2	1	2	2	2	1	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr13:29600162A>G	ENST00000431530.3	+	1	1415	c.1357A>G	c.(1357-1359)Aat>Gat	p.N453D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	443						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATTCCTAATAATCTGACTGA	0.473													G	29600162	A	G	29600162	3	3	441	1	0	0	0	0	1	0	0	0	10042	362	13	3	1359	3	MTUS2	13	29600162	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		29600162	85569716	63	42949											
KTN1	3895	broad.mit.edu	37	chr14	56117347	56117347	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaatgtccagcttgaaaagGctcaacaggtaaaaatccca	17	7	8	9	0	1	1	1	1	0	0	3	2	3	1	2	2	2	3	2	2	7	2	rs148189219		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr14:56117347G>A	ENST00000416613.1	+	23	2629	c.2557G>A	c.(2557-2559)Gct>Act	p.A853T	KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000413890.2_Intron|KTN1_ENST00000395314.3_Missense_Mutation_p.A853T|KTN1_ENST00000554507.1_Missense_Mutation_p.A148T|KTN1_ENST00000438792.2_Missense_Mutation_p.A853T|KTN1_ENST00000395309.3_Missense_Mutation_p.A853T			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	853					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCTTGAAAAGGCTCAACAGGT	0.328			T	RET	papillary thryoid								A	56117347	G	A	56117347	3	1	441	1	0	0	0	0	1	0	0	0	8644	1203	42	2	2647	2	KTN1	14	56117347	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		56117347	51232193	64	42950											
TYRO3	7301	broad.mit.edu	37	chr15	41865634	41865634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggccctggagagcctggCcgacaacctgtatactgtgc	7	8	13	13	1	0	1	0	0	0	1	0	3	0	1	4	3	4	2	4	3	3	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:41865634C>T	ENST00000263798.3	+	17	2338	c.2114C>T	c.(2113-2115)gCc>gTc	p.A705V	TYRO3_ENST00000559066.1_Missense_Mutation_p.A660V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	705	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGAGCCTGGCCGACAACCTG	0.582													T	41865634	C	T	41865634	3	4	441	1	0	0	0	0	1	0	0	0	16916	739	26	2	2180	2	TYRO3	15	41865634	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08		41865634	60665758	65	42951											
TCF12	6938	broad.mit.edu	37	chr15	57543547	57543547	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctacttttgggttttaacaGgtaccagtcagtggccaaga	10	12	11	8	0	1	1	1	0	0	1	1	1	1	1	2	3	3	3	2	3	4	6			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:57543547G>A	ENST00000267811.5	+	14	1418		c.e14-1		TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000559703.1_Splice_Site|TCF12_ENST00000559710.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000343827.3_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGTTTTAACAGGTACCAGTCA	0.423			T	TEC	extraskeletal myxoid chondrosarcoma								A	57543547	G	A	57543547	5	1	441	1	0	0	0	0	0	0	1	0	15787	1014	35	2	1237	2	TCF12	15	57543547	Splice_Site	SNP	G	TCGA-E1-5307-01A-01D-1893-08	15677913	57543547	44987845	66	42952											
SLTM	79811	broad.mit.edu	37	chr15	59186365	59186365	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcatcattttctttcttcaTttctttcttagagggatcac	7	21	4	9	0	8	1	4	0	4	1	8	2	8	2	0	1	0	0	0	1	1	8			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:59186365T>C	ENST00000380516.2	-	11	1492	c.1405A>G	c.(1405-1407)Atg>Gtg	p.M469V	SLTM_ENST00000536328.1_Missense_Mutation_p.M38V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	469					apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTCTTCATTTCTTTCTTA	0.294													C	59186365	T	C	59186365	3	2	441	1	0	0	0	0	1	0	0	0	14848	1493	52	3	1743	3	SLTM	15	59186365	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08	1642818	59186365	43345027	67	42953											
VPS13C	54832	broad.mit.edu	37	chr15	62254029	62254029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacacttgtggcagccctttCtgcagcctgggcagtggcag	6	9	13	13	0	1	0	0	0	1	0	1	0	1	0	2	3	3	4	2	3	0	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:62254029C>T	ENST00000261517.5	-	35	3740	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	VPS13C_ENST00000249837.3_Missense_Mutation_p.E1180K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E1223K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1180K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	1223					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGCCCTTTCTGCAGCCTGG	0.448													T	62254029	C	T	62254029	3	4	441	1	0	0	0	0	1	0	0	0	17293	922	32	2	7826	2	VPS13C	15	62254029	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	3067664	62254029	40277363	68	42954											
RGMA	56963	broad.mit.edu	37	chr15	93595609	93595609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcgggccgtccgccGcgtgcacagggcgtagctgc	4	5	18	14	6	0	0	0	0	0	0	1	0	1	0	3	3	4	4	3	3	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:93595609G>A	ENST00000329082.7	-	3	530	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RGMA_ENST00000542321.2_Missense_Mutation_p.R71W|RGMA_ENST00000425933.2_Missense_Mutation_p.R71W|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000556087.1_Missense_Mutation_p.R71W|RGMA_ENST00000543599.1_Missense_Mutation_p.R71W|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Missense_Mutation_p.R95W|RGMA_ENST00000555584.1_5'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	87					axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCCGTCCGCCGCGTGCACAGG	0.677													A	93595609	G	A	93595609	3	1	441	1	0	0	0	0	1	0	0	0	13368	1086	38	1	1101	1	RGMA	15	93595609	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	31341580	93595609	8935783	69	42955											
CCDC102A	92922	broad.mit.edu	37	chr16	57550306	57550306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacccgccggttggcatgtgCcagctctgccaccttctcct	4	10	9	18	2	2	0	0	0	2	0	3	0	2	0	6	2	3	3	6	2	0	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:57550306C>T	ENST00000258214.2	-	7	1564	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	440										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTGGCATGTGCCAGCTCTGCC	0.632													T	57550306	C	T	57550306	3	4	441	1	0	0	0	0	1	0	0	0	2762	739	26	2	346	2	CCDC102A	16	57550306	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08		57550306	32804447	70	42956											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	441	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		7577121	73618089	71	42957											
CDK12	51755	broad.mit.edu	37	chr17	37627827	37627827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggttcctgcttccagtaCttcaactttgcccccttcta	6	15	5	15	0	3	0	2	0	1	0	5	0	5	0	4	1	4	3	4	1	3	7			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:37627827C>T	ENST00000447079.4	+	2	1775	c.1742C>T	c.(1741-1743)aCt>aTt	p.T581I	CDK12_ENST00000430627.2_Missense_Mutation_p.T581I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	581					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCTTCCAGTACTTCAACTTTG	0.507			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			T	37627827	C	T	37627827	3	4	441	1	0	0	0	0	1	0	0	0	3158	565	20	2	1748	2	CDK12	17	37627827	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	30050706	37627827	43567383	72	42958											
GH1	2688	broad.mit.edu	37	chr17	61995729	61995729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctggtaggtgtcaaaggCcagctggtgcagacgatggg	8	8	16	9	1	1	1	1	0	0	1	2	2	2	1	2	5	2	3	2	5	2	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:61995729C>T	ENST00000323322.5	-	2	190	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	GH1_ENST00000342364.4_Missense_Mutation_p.A50T|GH1_ENST00000458650.2_Missense_Mutation_p.A50T|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.A50T	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	50					glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTGTCAAAGGCCAGCTGGTGC	0.582													T	61995729	C	T	61995729	3	4	441	1	0	0	0	0	1	0	0	0	6423	739	26	2	521	2	GH1	17	61995729	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	24367902	61995729	19199481	73	42959											
TUBB6	84617	broad.mit.edu	37	chr18	12325927	12325927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catccaggagctgttcaagcGcatctccgagcagttctcag	9	9	10	13	2	3	0	2	0	2	0	6	2	4	1	2	1	3	5	2	1	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:12325927G>A	ENST00000317702.5	+	4	1373	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	380					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGTTCAAGCGCATCTCCGAG	0.617													A	12325927	G	A	12325927	3	1	441	1	0	0	0	0	1	0	0	0	16862	1087	38	1	1153	1	TUBB6	18	12325927	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08		12325927	65751321	74	42960											
CTAGE1	64693	broad.mit.edu	37	chr18	19997797	19997797	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcagtcagtgctgccacaAccctgcgtagcaactccagg	9	8	9	15	1	2	0	2	0	0	0	3	0	3	0	3	1	6	3	3	1	3	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:19997797A>T	ENST00000391403.2	-	0	81					NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGCTGCCACAACCCTGCGTAG	0.547													T	19997797	A	T	19997797	1	4	441	1	0	0	0	0	0	0	0	0	4025	58	2	5		5	CTAGE1	18	19997797	Translation_Start_Site	SNP	A	TCGA-E1-5307-01A-01D-1893-08	7671870	19997797	58079451	75	42961											
GALR1	2587	broad.mit.edu	37	chr18	74980584	74980584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggttgtggtgtttggaatctCctggctgccgcaccacatca	6	12	12	11	1	2	0	1	0	1	0	3	1	2	1	3	4	1	4	3	4	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:74980584C>G	ENST00000299727.3	+	3	776	c.776C>G	c.(775-777)tCc>tGc	p.S259C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	259					digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTTGGAATCTCCTGGCTGCCG	0.567													G	74980584	C	G	74980584	3	3	441	1	0	0	0	0	1	0	0	0	6281	855	30	4	786	4	GALR1	18	74980584	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	54982787	74980584	3096664	76	42962											
ABCA7	10347	broad.mit.edu	37	chr19	1044692	1044692	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctacagctggcaggaCgcacacgctgatgtggggca	8	6	17	10	2	0	1	0	1	0	0	0	2	0	2	0	6	2	6	0	6	1	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:1044692C>T	ENST00000263094.6	+	11	1395	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	ABCA7_ENST00000435683.2_Silent_p.D250D|ABCA7_ENST00000433129.1_Silent_p.D388D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	388					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		GCTGGCAGGACGCACACGCTG	0.667													T	1044692	C	T	1044692	2	4	441	1	0	0	0	0	0	0	0	1	37	535	19	1		1	ABCA7	19	1044692	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		1044692	58084291	77	42963											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522													G	9090831	A	G	9090831	2	3	441	1	0	0	0	0	0	0	0	1	10049	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08	8046139	9090831	50038152	78	42964											
OR7A17	26333	broad.mit.edu	37	chr19	14992008	14992008	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgggggtgtggaggtGggagtctgagattgtggcca	7	10	20	4	0	1	1	0	1	1	1	1	4	1	3	1	6	1	1	1	6	1	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:14992008G>C	ENST00000327462.2	-	1	256	c.160C>G	c.(160-162)Cac>Gac	p.H54D		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GTGTGGAGGTGGGAGTCTGAG	0.502													C	14992008	G	C	14992008	3	2	441	1	0	0	0	0	1	0	0	0	11291	1348	47	4	771	4	OR7A17	19	14992008	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	5901177	14992008	44136975	79	42965											
ZNF536	9745	broad.mit.edu	37	chr19	31038967	31038967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggggctgggccgctgtctgGgcaacccccaaatcaagacc	8	5	13	15	2	2	1	1	0	1	1	2	1	2	1	4	4	1	3	4	4	3	0			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:31038967G>A	ENST00000355537.3	+	4	2588	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	814					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCTGTCTGGGCAACCCCCA	0.572													A	31038967	G	A	31038967	3	1	441	1	0	0	0	0	1	0	0	0	18075	1232	43	2	2451	2	ZNF536	19	31038967	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	16046959	31038967	28090016	80	42966											
PRR19	284338	broad.mit.edu	37	chr19	42813898	42813898	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattcgggatccacctgtGgtccctactgcctccaagct	6	10	9	16	1	0	0	0	0	0	0	4	1	3	1	6	2	3	1	6	2	2	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:42813898G>T	ENST00000499536.2	+	1	973	c.162G>T	c.(160-162)gtG>gtT	p.V54V	PRR19_ENST00000341747.3_Silent_p.V54V|PRR19_ENST00000598490.1_Silent_p.V54V			A6NJB7	PRR19_HUMAN	proline rich 19	54										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ATCCACCTGTGGTCCCTACTG	0.622													T	42813898	G	T	42813898	2	4	441	1	0	0	0	0	0	0	0	1	12677	1335	47	4		4	PRR19	19	42813898	Silent	SNP	G	TCGA-E1-5307-01A-01D-1893-08	11774931	42813898	16315085	81	42967											
ZNF613	79898	broad.mit.edu	37	chr19	52447902	52447902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaccagagaaaccacacaGgagagaaaccctatgaatgc	19	3	8	11	0	0	3	0	1	0	2	0	6	0	4	3	1	4	0	3	1	5	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:52447902G>A	ENST00000293471.6	+	6	1445	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ZNF613_ENST00000391794.4_Missense_Mutation_p.G220R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	256					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACACAGGAGAGAAACC	0.458													A	52447902	G	A	52447902	3	1	441	1	0	0	0	0	1	0	0	0	18139	1001	35	2	780	2	ZNF613	19	52447902	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	9634004	52447902	6681081	82	42968											
BCAS1	8537	broad.mit.edu	37	chr20	52611567	52611567	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctaccgtgtcttctgggtccTtttttgtttcagctttgtta	3	21	8	9	1	3	0	1	0	2	0	4	0	4	0	2	1	2	3	2	1	2	8			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr20:52611567T>C	ENST00000395961.3	-	6	1077	c.911A>G	c.(910-912)aAg>aGg	p.K304R	BCAS1_ENST00000371440.3_Missense_Mutation_p.K304R|BCAS1_ENST00000434986.2_Missense_Mutation_p.K17R|BCAS1_ENST00000371435.2_Missense_Mutation_p.K304R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	304						cytoplasm	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTGGGTCCTTTTTTGTTTC	0.338													C	52611567	T	C	52611567	3	2	441	1	0	0	0	0	1	0	0	0	1355	1609	56	3	871	3	BCAS1	20	52611567	Missense_Mutation	SNP	T	TCGA-E1-5307-01A-01D-1893-08		52611567	10413953	83	42969											
USP25	29761	broad.mit.edu	37	chr21	17250117	17250117	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctgcattgcattaagaaAttaaatgagcaagccgcaga	15	10	8	8	1	0	3	0	1	0	2	1	3	1	3	2	0	4	4	2	0	5	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:17250117A>G	ENST00000285681.2	+	24	3267	c.2898A>G	c.(2896-2898)aaA>aaG	p.K966K	USP25_ENST00000400183.2_Silent_p.K1004K|USP25_ENST00000285679.6_Silent_p.K934K|USP25_ENST00000351097.5_Silent_p.K329K	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	934					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	p.K934K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCATTAAGAAATTAAATGAGC	0.313													G	17250117	A	G	17250117	2	3	441	1	0	0	0	0	0	0	0	1	17158	98	4	3		3	USP25	21	17250117	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08		17250117	30879778	84	42970											
PFKL	5211	broad.mit.edu	37	chr21	45746603	45746603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtcctgcacaggcaccGcatgccacgggagcagtggt	7	5	13	16	3	0	0	0	0	0	0	1	1	1	1	5	3	3	4	5	3	0	0			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:45746603G>A	ENST00000403390.1	+	23	2342	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	PFKL_ENST00000349048.4_Missense_Mutation_p.R734H			P17858	K6PL_HUMAN	phosphofructokinase, liver	734					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGGCACCGCATGCCACGG	0.667													A	45746603	G	A	45746603	3	1	441	1	0	0	0	0	1	0	0	0	11841	1087	38	1	2287	1	PFKL	21	45746603	Missense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	28496486	45746603	2383292	85	42971											
ITGB2	3689	broad.mit.edu	37	chr21	46309270	46309270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgaatggcactcgcataCgttgcagcggcaccggccac	8	6	12	15	4	0	1	0	1	0	0	1	1	0	1	3	3	3	5	3	3	2	2			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:46309270C>T	ENST00000397850.2	-	14	2250	c.1798G>A	c.(1798-1800)Gta>Ata	p.V600I	ITGB2_ENST00000397857.1_Missense_Mutation_p.V600I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V543I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V600I|ITGB2_ENST00000302347.5_Missense_Mutation_p.V600I|ITGB2_ENST00000397852.1_Missense_Mutation_p.V600I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	600	Cysteine-rich tandem repeats.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACTCGCATACGTTGCAGCGG	0.657													T	46309270	C	T	46309270	3	4	441	1	0	0	0	0	1	0	0	0	7952	536	19	1	527	1	ITGB2	21	46309270	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	562667	46309270	1820625	86	42972											
MICAL3	57553	broad.mit.edu	37	chr22	18301254	18301254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgccttccggctttggCaggcccagccttttggggat	3	11	14	13	2	0	0	0	0	0	0	2	1	1	1	4	6	1	3	4	6	0	4			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:18301254C>T	ENST00000441493.2	-	26	4525	c.4173G>A	c.(4171-4173)ctG>ctA	p.L1391L		NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1391	Pro-rich.					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCGGCTTTGGCAGGCCCAGCC	0.632													T	18301254	C	T	18301254	2	4	441	1	0	0	0	0	0	0	0	1	9646	697	25	2		2	MICAL3	22	18301254	Silent	SNP	C	TCGA-E1-5307-01A-01D-1893-08		18301254	33003312	87	42973											
TEF	7008	broad.mit.edu	37	chr22	41783620	41783620	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcttccacagcatccccAccatcctcctccactgccat	8	9	3	21	0	1	0	0	0	1	0	6	0	6	0	8	0	3	2	8	0	0	1			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:41783620A>G	ENST00000266304.4	+	2	539	c.423A>G	c.(421-423)ccA>ccG	p.P141P	TEF_ENST00000406644.3_Silent_p.P111P	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	141					rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CAGCATCCCCACCATCCTCCT	0.612													G	41783620	A	G	41783620	2	3	441	1	0	0	0	0	0	0	0	1	15850	146	6	3		3	TEF	22	41783620	Silent	SNP	A	TCGA-E1-5307-01A-01D-1893-08	23482366	41783620	9520946	88	42974											
GDPD2	54857	broad.mit.edu	37	chrX	69652495	69652495	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgctgcttttgtggAccttcctcctccaaaggtga	7	12	8	14	0	0	1	0	1	0	0	3	2	3	2	6	2	2	2	6	2	1	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:69652495A>T	ENST00000453994.2	+	15	2036	c.1675A>T	c.(1675-1677)Acc>Tcc	p.T559S	GDPD2_ENST00000536730.1_Missense_Mutation_p.T429S|GDPD2_ENST00000374382.3_Missense_Mutation_p.T508S|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.T429S	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	508					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCTTTTGTGGACCTTCCTCCT	0.488													T	69652495	A	T	69652495	3	4	441	1	0	0	0	0	1	0	0	0	6380	275	10	5	1729	5	GDPD2	23	69652495	Missense_Mutation	SNP	A	TCGA-E1-5307-01A-01D-1893-08		69652495	85618065	89	42975											
ATRX	546	broad.mit.edu	37	chrX	76939496	76939496	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttacagcatccatcgctcGaaactcggaatttaagtctt	11	13	7	10	3	1	0	0	0	1	0	5	2	2	1	1	1	3	3	1	1	4	5			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:76939496G>A	ENST00000373344.5	-	9	1466	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R380*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	418					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)	TCCATCGCTCGAAACTCGGAA	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939496	G	A	76939496	4	1	441	1	0	0	0	0	0	1	0	0	1213	1066	37	1	6334	1	ATRX	23	76939496	Nonsense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	7287001	76939496	78331064	90	42976											
NAP1L3	4675	broad.mit.edu	37	chrX	92927163	92927163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcattgtgatctggttttgCctttattatatatgtcttca	8	21	6	6	0	4	1	2	1	2	0	4	1	4	1	1	1	1	1	1	1	4	9			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:92927163C>T	ENST00000373079.3	-	1	1404	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	NAP1L3_ENST00000475430.2_Missense_Mutation_p.A374T	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	381					nucleosome assembly	chromatin assembly complex				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGGTTTTGCCTTTATTATA	0.403													T	92927163	C	T	92927163	3	4	441	1	0	0	0	0	1	0	0	0	10234	739	26	2	383	2	NAP1L3	23	92927163	Missense_Mutation	SNP	C	TCGA-E1-5307-01A-01D-1893-08	15987667	92927163	62343397	91	42977											
ACSL4	2182	broad.mit.edu	37	chrX	108926516	108926516	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggatgtctattacagctagtGagtcgaagtgtgtgacagag	11	11	14	5	1	1	3	0	2	1	1	2	5	1	4	0	1	2	1	0	1	4	3			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:108926516G>C	ENST00000340800.2	-	4	704	c.200C>G	c.(199-201)tCa>tGa	p.S67*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.S26*|ACSL4_ENST00000469796.2_Nonsense_Mutation_p.S67*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	67					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	TACAGCTAGTGAGTCGAAGTG	0.448													C	108926516	G	C	108926516	4	2	441	1	0	0	0	0	0	1	0	0	179	1294	45	4	1991	4	ACSL4	23	108926516	Nonsense_Mutation	SNP	G	TCGA-E1-5307-01A-01D-1893-08	15999353	108926516	46344044	92	42978											
BCL9	607	broad.mit.edu	37	chr1	147092354	147092354	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcaacagtggcttgcGgaatctcagagaaccaattg	13	7	12	9	1	1	1	1	0	1	1	2	3	1	2	1	3	4	3	1	3	4	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:147092354G>T	ENST00000234739.3	+	8	3133	c.2393G>T	c.(2392-2394)cGg>cTg	p.R798L		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	798	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AGTGGCTTGCGGAATCTCAGA	0.587			T	"IGH@, IGL@"	B-ALL								T	147092354	G	T	147092354	3	4	442	1	0	0	0	0	1	0	0	0	1386	1116	39	4	2411	4	BCL9	1	147092354	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		147092354	102158267	1	42979											
ECM1	1893	broad.mit.edu	37	chr1	150482440	150482440	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacccctctccaacaggAaaagctgctacctgcccaac	11	5	7	18	0	1	0	0	0	1	0	2	1	1	1	6	2	6	2	6	2	5	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr1:150482440A>G	ENST00000369047.4	+	4	391	c.266A>G	c.(265-267)gAa>gGa	p.E89G	ECM1_ENST00000369049.4_Missense_Mutation_p.E116G|ECM1_ENST00000346569.6_Missense_Mutation_p.E89G|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	89					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTCCAACAGGAAAAGCTGCTA	0.597													G	150482440	A	G	150482440	3	3	442	1	0	0	0	0	1	0	0	0	4936	246	9	3	280	3	ECM1	1	150482440	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08	3390086	150482440	98768181	2	42980											
HEATR5B	54497	broad.mit.edu	37	chr2	37265041	37265041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagattgacatgtcgtggtGcaaacatgtgaagctgctga	12	11	12	6	1	0	4	0	3	0	1	1	4	0	4	0	1	4	3	0	1	3	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:37265041G>A	ENST00000233099.5	-	21	3268	c.3173C>T	c.(3172-3174)gCa>gTa	p.A1058V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.A1058V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1058							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				ATGTCGTGGTGCAAACATGTG	0.383													A	37265041	G	A	37265041	3	1	442	1	0	0	0	0	1	0	0	0	7087	1319	46	2	3106	2	HEATR5B	2	37265041	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		37265041	205934332	3	42981											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	442	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	171848071	209113112	34086261	4	42982											
KCNJ13	3769	broad.mit.edu	37	chr2	233635999	233635999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatttgaagtgtgctgtggCcatccttggtgaccatcctc	6	13	10	12	0	0	2	0	2	0	0	3	2	2	2	5	2	1	1	5	2	1	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr2:233635999C>T	ENST00000233826.3	-	2	213	c.74G>A	c.(73-75)gGc>gAc	p.G25D	GIGYF2_ENST00000409547.1_Intron|KCNJ13_ENST00000409779.1_Missense_Mutation_p.G25D|GIGYF2_ENST00000409480.1_Intron|KCNJ13_ENST00000410029.1_Missense_Mutation_p.G25D|GIGYF2_ENST00000373566.3_Intron|GIGYF2_ENST00000373563.4_Intron|GIGYF2_ENST00000409451.3_Intron|GIGYF2_ENST00000409196.3_Intron|GIGYF2_ENST00000452341.2_Intron	NM_002242.4	NP_002233.2	O60928	IRK13_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 13	25						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(3)|large_intestine(2)|lung(2)|stomach(1)|urinary_tract(1)	9		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0306)|Lung NSC(271;0.0908)		Epithelial(121;5.9e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0617)		TGTGCTGTGGCCATCCTTGGT	0.468													T	233635999	C	T	233635999	3	4	442	1	0	0	0	0	1	0	0	0	8105	739	26	2	1016	2	KCNJ13	2	233635999	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	24522887	233635999	9563374	5	42983											
SMC4	10051	broad.mit.edu	37	chr3	160141575	160141575	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactggtggtggaagcaaaGtaatgaaaggaagaatgggt	15	8	16	2	0	0	3	0	2	0	1	0	5	0	5	0	5	1	2	0	5	6	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr3:160141575G>C	ENST00000357388.3	+	15	2723	c.2272G>C	c.(2272-2274)Gta>Cta	p.V758L	SMC4_ENST00000462787.1_Missense_Mutation_p.V758L|SMC4_ENST00000469762.1_Missense_Mutation_p.V733L|SMC4_ENST00000344722.5_Missense_Mutation_p.V758L|SMC4_ENST00000360111.2_Missense_Mutation_p.V758L|RP11-432B6.3_ENST00000483754.1_Intron	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	758	Flexible hinge.				cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			TGGAAGCAAAGTAATGAAAGG	0.383													C	160141575	G	C	160141575	3	2	442	1	0	0	0	0	1	0	0	0	14879	1029	36	4	2326	4	SMC4	3	160141575	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		160141575	37880855	6	42984											
FRAS1	80144	broad.mit.edu	37	chr4	79420950	79420950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgccattgcgattctgaAcatcaaggtgatccgcagag	12	9	11	9	2	2	4	1	2	1	2	3	5	3	4	2	1	3	1	2	1	2	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:79420950A>G	ENST00000264895.6	+	61	9631	c.9191A>G	c.(9190-9192)aAc>aGc	p.N3064S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3059	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCGATTCTGAACATCAAGGTG	0.532													G	79420950	A	G	79420950	3	3	442	1	0	0	0	0	1	0	0	0	6093	43	2	3	9508	3	FRAS1	4	79420950	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		79420950	111733326	7	42985											
IL15	3600	broad.mit.edu	37	chr4	142651106	142651106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtagaaaatctgatcaTcctagcaaacaacagtttgt	16	11	6	8	0	2	2	1	1	1	1	3	2	3	2	1	0	4	3	1	0	7	4			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr4:142651106T>C	ENST00000477265.1	+	6	5274	c.266T>C	c.(265-267)aTc>aCc	p.I89T	IL15_ENST00000320650.4_Missense_Mutation_p.I116T|IL15_ENST00000529613.1_Missense_Mutation_p.I116T|IL15_ENST00000296545.7_Missense_Mutation_p.I116T|IL15_ENST00000514653.1_Missense_Mutation_p.I89T|IL15_ENST00000394159.1_Missense_Mutation_p.I89T			P40933	IL15_HUMAN	interleukin 15	116					cell-cell signaling|immune response|positive regulation of interleukin-17 production	endosome|extracellular space|Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	cytokine activity|cytokine receptor binding|signal transducer activity			kidney(1)|large_intestine(1)|lung(2)|stomach(1)	5	all_hematologic(180;0.158)					AATCTGATCATCCTAGCAAAC	0.388													C	142651106	T	C	142651106	3	2	442	1	0	0	0	0	1	0	0	0	7689	1435	50	3	365	3	IL15	4	142651106	Missense_Mutation	SNP	T	TCGA-E1-5311-01A-01D-1468-08	63230156	142651106	48503170	8	42986											
PCDHGA3	56112	broad.mit.edu	37	chr5	140724038	140724038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaattggtgaactaacGgttcctggaacccgatttcc	13	11	8	9	2	0	1	0	1	0	0	2	3	2	2	3	3	3	1	3	3	6	5			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr5:140724038G>A	ENST00000253812.6	+	1	438	c.438G>A	c.(436-438)acG>acA	p.T146T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1												p.T146T(1)		breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAACTAACGGTTCCTGGAA	0.353													A	140724038	G	A	140724038	2	1	442	1	0	0	0	0	0	0	0	1	11631	1103	39	1		1	PCDHGA3	5	140724038	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		140724038	40191222	9	42987											
RIOK1	83732	broad.mit.edu	37	chr6	7398936	7398936	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtttttggttaggtatcGcatcaaagataaggcagaca	12	14	10	5	1	1	2	1	0	0	2	2	2	1	2	0	3	0	5	0	3	4	6			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr6:7398936G>A	ENST00000379834.2	+	5	950	c.443G>A	c.(442-444)cGc>cAc	p.R148H		NM_031480.2|NM_153005.1	NP_113668.2|NP_694550.1	Q9BRS2	RIOK1_HUMAN	RIO kinase 1	148							ATP binding|protein serine/threonine kinase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19	Ovarian(93;0.0418)					GTTAGGTATCGCATCAAAGAT	0.313													A	7398936	G	A	7398936	3	1	442	1	0	0	0	0	1	0	0	0	13468	1087	38	1	461	1	RIOK1	6	7398936	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		7398936	163716131	10	42988											
KIAA1324L	222223	broad.mit.edu	37	chr7	86526826	86526826	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtttatcccttacctgaAatcctctcttgcaggctccc	8	13	6	14	0	1	2	0	1	1	1	5	2	4	2	4	1	2	3	4	1	3	4			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr7:86526826A>C	ENST00000450689.2	-	19	2866	c.2681T>G	c.(2680-2682)tTt>tGt	p.F894C	KIAA1324L_ENST00000297222.6_Missense_Mutation_p.F654C|KIAA1324L_ENST00000416314.1_Missense_Mutation_p.F727C|KIAA1324L_ENST00000444627.1_Missense_Mutation_p.F823C	NM_001142749.2	NP_001136221.1	A8MWY0	K132L_HUMAN	KIAA1324-like	894						integral to membrane				breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(14)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44	Esophageal squamous(14;0.0058)					CCTTACCTGAAATCCTCTCTT	0.468													C	86526826	A	C	86526826	3	2	442	1	0	0	0	0	1	0	0	0	8282	14	1	5	424	5	KIAA1324L	7	86526826	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		86526826	72611837	11	42989											
KCNU1	157855	broad.mit.edu	37	chr8	36766859	36766859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagtcaaagtataagtttCggaaccatattgtagcatgt	14	12	9	6	1	1	0	1	0	0	0	2	1	1	1	1	1	2	5	1	1	7	6			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr8:36766859C>T	ENST00000399881.3	+	21	2174	c.2137C>T	c.(2137-2139)Cgg>Tgg	p.R713W		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	713	Segment S9.					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	p.R713W(2)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GTATAAGTTTCGGAACCATAT	0.468													T	36766859	C	T	36766859	3	4	442	1	0	0	0	0	1	0	0	0	8151	875	31	1	2219	1	KCNU1	8	36766859	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08		36766859	109597163	12	42990											
NOTCH1	4851	broad.mit.edu	37	chr9	139412204	139412204	+	Splice_Site	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccccggccgacgcacCgggcatgcagatgcactgga	7	4	14	16	4	0	1	0	0	0	1	0	3	0	2	5	4	2	4	5	4	0	0			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr9:139412204C>G	ENST00000277541.6	-	8	1516	c.1441G>C	c.(1441-1443)Ggc>Cgc	p.G481R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.G481S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCCGACGCACCGGGCATGCAG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G	139412204	C	G	139412204	5	3	442	1	0	0	0	0	0	0	1	0	10623	666	23	4	6334	4	NOTCH1	9	139412204	Splice_Site	SNP	C	TCGA-E1-5311-01A-01D-1468-08		139412204	1801227	13	42991											
PPFIA1	8500	broad.mit.edu	37	chr11	70208264	70208264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccaatgggacgggccaacGgttgtggtctggctagaggt	7	8	17	9	2	1	1	0	0	1	1	1	2	1	2	2	6	1	2	2	6	3	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:70208264G>A	ENST00000253925.7	+	20	2861	c.2646G>A	c.(2644-2646)acG>acA	p.T882T	PPFIA1_ENST00000389547.3_Silent_p.T882T|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	882	SAM 1.				cell-matrix adhesion	cytoplasm	protein binding|signal transducer activity			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			ACGGGCCAACGGTTGTGGTCT	0.448													A	70208264	G	A	70208264	2	1	442	1	0	0	0	0	0	0	0	1	12386	1103	39	1		1	PPFIA1	11	70208264	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		70208264	64798252	14	42992											
PIWIL4	143689	broad.mit.edu	37	chr11	94328554	94328554	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtctcagtccttcaggccgGcagcagcgcctggccaggct	5	7	13	16	3	2	0	2	0	1	0	4	0	3	0	4	4	2	3	4	4	0	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:94328554G>A	ENST00000299001.6	+	10	1441	c.1230G>A	c.(1228-1230)cgG>cgA	p.R410R	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	410					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				CTTCAGGCCGGCAGCAGCGCC	0.512													A	94328554	G	A	94328554	2	1	442	1	0	0	0	0	0	0	0	1	12037	1190	42	2		2	PIWIL4	11	94328554	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08	24120290	94328554	40677962	15	42993											
FDXACB1	91893	broad.mit.edu	37	chr11	111745983	111745983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacaaaatttttcaggaaaCggttatcaaacgtccacaac	16	9	7	9	2	2	0	2	0	0	0	3	2	3	2	1	3	3	1	1	3	6	3			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:111745983C>T	ENST00000260257.4	-	5	1585	c.1538G>A	c.(1537-1539)cGt>cAt	p.R513H	ALG9_ENST00000524880.1_Intron|ALG9_ENST00000527377.1_Intron|FDXACB1_ENST00000542429.1_Missense_Mutation_p.R364H	NM_138378.2	NP_612387.1	Q9BRP7	FDXA1_HUMAN	ferredoxin-fold anticodon binding domain containing 1	513					phenylalanyl-tRNA aminoacylation|tRNA processing		ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(3)	19						TTTCAGGAAACGGTTATCAAA	0.383													T	111745983	C	T	111745983	3	4	442	1	0	0	0	0	1	0	0	0	5855	536	19	1	340	1	FDXACB1	11	111745983	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	17417429	111745983	23260533	16	42994											
PRDM10	56980	broad.mit.edu	37	chr11	129795084	129795084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaagcatttaaaaggcCggaaggacttccgaataaac	16	7	9	9	2	0	0	0	0	0	0	1	3	1	2	2	3	3	2	2	3	7	4			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr11:129795084C>T	ENST00000358825.5	-	13	1814	c.1583G>A	c.(1582-1584)cGg>cAg	p.R528Q	PRDM10_ENST00000304538.6_Missense_Mutation_p.R438Q|PRDM10_ENST00000526082.1_Missense_Mutation_p.R442Q|PRDM10_ENST00000423662.2_Missense_Mutation_p.R442Q|PRDM10_ENST00000528746.1_Missense_Mutation_p.R498Q|PRDM10_ENST00000360871.3_Missense_Mutation_p.R524Q	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	528					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		TTTAAAAGGCCGGAAGGACTT	0.483													T	129795084	C	T	129795084	3	4	442	1	0	0	0	0	1	0	0	0	12537	652	23	1	1939	1	PRDM10	11	129795084	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	18049101	129795084	5211432	17	42995											
ST8SIA1	6489	broad.mit.edu	37	chr12	22408291	22408291	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccatttcccaccaccgcGcatttcttcaatggcagctg	8	10	6	17	2	2	0	1	0	1	0	3	0	3	0	5	1	1	3	5	1	1	3			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr12:22408291G>A	ENST00000396037.4	-	3	895	c.414C>T	c.(412-414)tgC>tgT	p.C138C	ST8SIA1_ENST00000539510.1_Intron	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	138					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity	p.C138F(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						CCACCACCGCGCATTTCTTCA	0.483													A	22408291	G	A	22408291	2	1	442	1	0	0	0	0	0	0	0	1	15327	1079	38	1		1	ST8SIA1	12	22408291	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		22408291	111443604	18	42996											
AGAP2	116986	broad.mit.edu	37	chr12	58129157	58129157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactgggttacctaccaggcGcagttcaggaatggagcggc	9	7	15	10	2	1	0	1	0	0	0	1	3	1	2	2	5	3	3	2	5	3	3			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr12:58129157G>A	ENST00000257897.3	-	2	299	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	AGAP2_ENST00000547588.1_Missense_Mutation_p.R408C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	408					axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding	p.R72S(1)|p.R408S(1)		breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						CCTACCAGGCGCAGTTCAGGA	0.567													A	58129157	G	A	58129157	3	1	442	1	0	0	0	0	1	0	0	0	368	1087	38	1	2428	1	AGAP2	12	58129157	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	35720866	58129157	75722738	19	42997											
UBAC2	337867	broad.mit.edu	37	chr13	99853778	99853778	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagggagcgcagctgtgctGctggatgttgctgttttcct	4	13	15	9	2	0	0	0	0	0	0	1	3	1	2	1	2	5	7	1	2	0	3			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr13:99853778G>T	ENST00000376440.2	+	1	616	c.113G>T	c.(112-114)tGc>tTc	p.C38F	UBAC2_ENST00000403766.3_Intron	NM_177967.3	NP_808882.1	Q8NBM4	UBAC2_HUMAN	UBA domain containing 2	0						integral to membrane		p.C38F(1)		breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)	10	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CAGCTGTGCTGCTGGATGTTG	0.507											OREG0022482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	99853778	G	T	99853778	3	4	442	1	0	0	0	0	1	0	0	0	16937	1319	46	4	150	4	UBAC2	13	99853778	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		99853778	15316100	20	42998											
RAB20	55647	broad.mit.edu	37	chr13	111176298	111176298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtgcccttggggagacaCggtccccagcgtccatattg	7	9	13	12	2	0	1	0	0	0	1	2	2	2	1	4	4	2	0	4	4	2	4			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr13:111176298C>T	ENST00000267328.3	-	2	632	c.419G>A	c.(418-420)cGt>cAt	p.R140H		NM_017817.1	NP_060287.1	Q9NX57	RAB20_HUMAN	RAB20, member RAS oncogene family	140					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(2)|large_intestine(2)|lung(3)	7	all_cancers(4;1.54e-11)|all_epithelial(4;1.22e-06)|all_lung(23;1e-05)|Lung NSC(43;0.000453)|Colorectal(4;0.00323)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.197)			TGGGGAGACACGGTCCCCAGC	0.577													T	111176298	C	T	111176298	3	4	442	1	0	0	0	0	1	0	0	0	12995	536	19	1	289	1	RAB20	13	111176298	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	11322520	111176298	3993580	21	42999											
RYR3	6263	broad.mit.edu	37	chr15	34157386	34157386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgggatttcttcccagccGgtgactgctttcgtaaacaa	8	13	10	10	2	1	1	0	1	1	0	3	2	2	2	2	2	3	3	2	2	3	5			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr15:34157386G>A	ENST00000389232.4	+	104	14642	c.14572G>A	c.(14572-14574)Ggt>Agt	p.G4858S	RYR3_ENST00000415757.3_Missense_Mutation_p.G4853S	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4858					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CTTCCCAGCCGGTGACTGCTT	0.393													A	34157386	G	A	34157386	3	1	442	1	0	0	0	0	1	0	0	0	13861	1116	39	1	14986	1	RYR3	15	34157386	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08		34157386	68374006	22	43000											
PKD1	5310	broad.mit.edu	37	chr16	2155892	2155892	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcacggtgaccagggccaAcgagtactcgatgacgtgct	10	6	13	12	4	0	2	0	2	0	0	1	4	0	2	2	2	4	3	2	2	2	1	rs149467954	by1000genomes	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:2155892A>G	ENST00000262304.4	-	20	8045	c.7837T>C	c.(7837-7839)Ttg>Ctg	p.L2613L	PKD1_ENST00000561991.1_5'UTR|PKD1_ENST00000423118.1_Silent_p.L2613L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	2613	REJ.		Missing (in ADPKD1; could be a polymorphism).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding	p.L2613L(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						ACCAGGGCCAACGAGTACTCG	0.657													G	2155892	A	G	2155892	2	3	442	1	0	0	0	0	0	0	0	1	12040	40	2	3		3	PKD1	16	2155892	Silent	SNP	A	TCGA-E1-5311-01A-01D-1468-08		2155892	88198861	23	43001											
ANKRD11	29123	broad.mit.edu	37	chr16	89350191	89350191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttttcggtctgctctttcCtcttctcagagtttttatcc	3	20	6	12	1	4	1	1	0	4	1	8	1	6	1	2	1	1	3	2	1	1	7			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr16:89350191C>T	ENST00000301030.4	-	9	3219	c.2759G>A	c.(2758-2760)aGg>aAg	p.R920K	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R920K	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	920	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		CTGCTCTTTCCTCTTCTCAGA	0.547													T	89350191	C	T	89350191	3	4	442	1	0	0	0	0	1	0	0	0	639	681	24	2	5252	2	ANKRD11	16	89350191	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	87194299	89350191	1004562	24	43002											
USP6	9098	broad.mit.edu	37	chr17	5074028	5074028	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccaaccagagctggtcActcctcaggaccatgaggta	11	6	11	13	0	2	2	2	1	0	1	3	3	3	3	4	3	3	3	4	3	2	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:5074028A>T	ENST00000574788.1	+	36	6002	c.3772A>T	c.(3772-3774)Act>Tct	p.T1258S	USP6_ENST00000304328.5_Missense_Mutation_p.T941S|USP6_ENST00000250066.6_Missense_Mutation_p.T1258S|USP6_ENST00000332776.4_3'UTR			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1258					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						AGAGCTGGTCACTCCTCAGGA	0.572			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5074028	A	T	5074028	3	4	442	1	0	0	0	0	1	0	0	0	17188	159	6	5	3878	5	USP6	17	5074028	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		5074028	76121182	25	43003											
SSH2	85464	broad.mit.edu	37	chr17	27994187	27994187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaatccttctgcatcatGatctcccttaatttggtttt	8	18	4	11	0	3	1	1	1	2	0	6	1	5	1	3	1	1	2	3	1	2	5			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr17:27994187G>A	ENST00000269033.3	-	9	934	c.783C>T	c.(781-783)atC>atT	p.I261I	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.I288I	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	261					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCTGCATCATGATCTCCCTTA	0.383													A	27994187	G	A	27994187	2	1	442	1	0	0	0	0	0	0	0	1	15281	1280	45	2		2	SSH2	17	27994187	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08	22920159	27994187	53201023	26	43004											
PSMD8	5714	broad.mit.edu	37	chr19	38865398	38865398	+	Frame_Shift_Del	DEL	A	A	-																															tttgtaggcggcgctgccgtAaatcaggcggtctgcttgcc																										TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:38865398delA	ENST00000215071.4	+	1	223	c.157delA	c.(157-159)aaafs	p.K53fs	PSMD8_ENST00000602911.1_5'Flank	NM_002812.4	NP_002803.2	P48556	PSMD8_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 8	53					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome regulatory particle	protein binding			central_nervous_system(2)|endometrium(1)|large_intestine(2)|lung(1)	6	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GCGCTGCCGTAAATCAGGCGG	0.736													-	38865398	A	-	38865398	7	5	442	1	0	1	0	1	0	0	0	0	12789	363	13	0	159	0	PSMD8	19	38865398	Frame_Shift_Del	DEL	A	TCGA-E1-5311-01A-01D-1468-08		38865398	20263585	27	43005											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	10	6	13	12	2	1	2	1	1	0	1	2	4	2	3	4	4	1	0	4	4	2	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								T	42791718	C	T	42791718	3	4	442	1	0	0	0	0	1	0	0	0	3454	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-E1-5311-01A-01D-1468-08	3926320	42791718	16337265	28	43006											
PSG4	5672	broad.mit.edu	37	chr19	43702179	43702179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgactgggtcactgcGgctggcactcactgggttcc	5	9	15	12	1	2	1	2	1	0	0	3	1	3	1	1	5	1	3	1	5	0	1			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr19:43702179G>A	ENST00000405312.3	-	3	916	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C	PSG4_ENST00000244295.9_Missense_Mutation_p.R227C|PSG4_ENST00000433626.2_Intron	NM_002780.3	NP_002771.2	Q00888	PSG4_HUMAN	pregnancy specific beta-1-glycoprotein 4	227	Ig-like C2-type 1.				defense response|female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	24		Prostate(69;0.00682)				GGGTCACTGCGGCTGGCACTC	0.522													A	43702179	G	A	43702179	3	1	442	1	0	0	0	0	1	0	0	0	12742	1116	39	1	596	1	PSG4	19	43702179	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	910461	43702179	15426804	29	43007											
PLCB1	23236	broad.mit.edu	37	chr20	8862304	8862304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcaagaataccaagacaaAttcaaaagactgcccctcga	18	5	7	11	1	1	3	1	0	0	3	2	5	1	3	3	0	3	1	3	0	7	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:8862304A>C	ENST00000338037.6	+	32	3486	c.3459A>C	c.(3457-3459)aaA>aaC	p.K1153N	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1153					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACCAAGACAAATTCAAAAGAC	0.468													C	8862304	A	C	8862304	3	2	442	1	0	0	0	0	1	0	0	0	12104	98	4	5	3688	5	PLCB1	20	8862304	Missense_Mutation	SNP	A	TCGA-E1-5311-01A-01D-1468-08		8862304	54163216	30	43008											
TCFL5	10732	broad.mit.edu	37	chr20	61488943	61488943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacatttgtgtccaactgacGcattctactccgattcctct	8	15	5	13	2	2	1	0	1	2	0	5	2	5	1	3	0	3	1	3	0	3	5			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr20:61488943G>A	ENST00000335351.3	-	4	1134	c.1042C>T	c.(1042-1044)Cgt>Tgt	p.R348C	TCFL5_ENST00000217162.5_Missense_Mutation_p.R300C	NM_006602.2	NP_006593.2	Q9UL49	TCFL5_HUMAN	transcription factor-like 5 (basic helix-loop-helix)	348	R3 epitope (recognized by Chagas's antibodies).				cell differentiation|multicellular organismal development|regulation of cell differentiation|regulation of cell proliferation|spermatogenesis|transcription from RNA polymerase II promoter		DNA binding|sequence-specific DNA binding transcription factor activity	p.R348C(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(1)|urinary_tract(1)	9	Breast(26;5.68e-08)					TCCAACTGACGCATTCTACTC	0.463													A	61488943	G	A	61488943	3	1	442	1	0	0	0	0	1	0	0	0	15799	1087	38	1	472	1	TCFL5	20	61488943	Missense_Mutation	SNP	G	TCGA-E1-5311-01A-01D-1468-08	52626639	61488943	1536577	31	43009											
TUBGCP6	85378	broad.mit.edu	37	chr22	50658942	50658942	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggctcagcttctggtgaGagagcccccagcaccatgtg	7	9	13	12	0	2	2	1	1	1	1	2	3	2	2	3	2	3	3	3	2	0	2	rs151156085	byFrequency	TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr22:50658942G>C	ENST00000439308.2	-	16	4338	c.3846C>G	c.(3844-3846)ctC>ctG	p.L1282L	TUBGCP6_ENST00000248846.5_Silent_p.L1282L|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1282					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTCTGGTGAGAGAGCCCCCA	0.657													C	50658942	G	C	50658942	2	2	442	1	0	0	0	0	0	0	0	1	16872	929	33	4		4	TUBGCP6	22	50658942	Silent	SNP	G	TCGA-E1-5311-01A-01D-1468-08		50658942	645624	32	43010											
SBF1	6305	broad.mit.edu	37	chr22	50898523	50898523	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaccaggctgctcatggTcatgcggtcggagggcttca	6	10	13	12	2	3	0	3	0	0	0	5	1	4	1	2	5	2	3	2	5	0	2			TCGA-E1-5311-01A-01D-1468-08	TCGA-E1-5311-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b97717e-c288-4833-8161-03ae0b529aaf	3342b28b-0c68-47fb-9593-786c32c2cbe7	g.chr22:50898523T>C	ENST00000380817.3	-	26	3532	c.3349A>G	c.(3349-3351)Acc>Gcc	p.T1117A	SBF1_ENST00000390679.3_Missense_Mutation_p.T1117A|SBF1_ENST00000348911.6_Missense_Mutation_p.T1118A	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						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)		CTGCTCATGGTCATGCGGTCG	0.677													C	50898523	T	C	50898523	3	2	442	1	0	0	0	0	1	0	0	0	13950	1667	58	3	2396	3	SBF1	22	50898523	Missense_Mutation	SNP	T	TCGA-E1-5311-01A-01D-1468-08	239581	50898523	406043	33	43011											
HRNR	388697	broad.mit.edu	37	chr1	152193228	152193228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcggccgtggcccaaagActgacgggaaccagacccat	10	6	12	13	3	0	3	0	1	0	2	1	4	0	4	4	3	1	0	4	3	2	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:152193228A>G	ENST00000368801.2	-	3	952	c.877T>C	c.(877-879)Tct>Cct	p.S293P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	293					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCCCAAAGACTGACGGGAA	0.607													G	152193228	A	G	152193228	3	3	443	1	0	0	0	0	1	0	0	0	7414	275	10	3	7679	3	HRNR	1	152193228	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08		152193228	97057393	1	43012											
SELE	6401	broad.mit.edu	37	chr1	169698637	169698637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaactctacctttacacGttggcttctcgttgtcccaa	9	13	6	13	2	2	0	0	0	2	0	4	1	3	0	2	1	4	3	2	1	5	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr1:169698637G>A	ENST00000333360.7	-	6	1032	c.893C>T	c.(892-894)aCg>aTg	p.T298M	SELE_ENST00000367782.4_Missense_Mutation_p.T298M|SELE_ENST00000367780.4_Missense_Mutation_p.T236M|SELE_ENST00000367775.1_Missense_Mutation_p.T236M|SELE_ENST00000367779.4_Missense_Mutation_p.T298M|SELE_ENST00000367777.1_Missense_Mutation_p.T298M|SELE_ENST00000367774.1_Missense_Mutation_p.T298M|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367776.1_Missense_Mutation_p.T298M|SELE_ENST00000367781.4_Missense_Mutation_p.T298M	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	298	Sushi 2.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					ACCTTTACACGTTGGCTTCTC	0.443													A	169698637	G	A	169698637	3	1	443	1	0	0	0	0	1	0	0	0	14106	1145	40	1	971	1	SELE	1	169698637	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	17505409	169698637	79551984	2	43013											
INO80B	83444	broad.mit.edu	37	chr2	74684817	74684817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccacggcagtgtctcagcgGccatccccctcaggcccgcc	5	5	10	21	3	2	0	2	0	1	0	4	0	3	0	6	3	1	1	6	3	0	0			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:74684817G>A	ENST00000233331.7	+	5	991	c.897G>A	c.(895-897)cgG>cgA	p.R299R		NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	299					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						TGTCTCAGCGGCCATCCCCCT	0.716													A	74684817	G	A	74684817	2	1	443	1	0	0	0	0	0	0	0	1	7805	1190	42	2		2	INO80B	2	74684817	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		74684817	168514556	3	43014											
IL1RL2	8808	broad.mit.edu	37	chr2	102805614	102805614	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttttaattgtacattccctcCcataacatctggggaagtca	11	14	6	10	0	2	0	1	0	1	0	4	1	4	1	2	2	2	1	2	2	4	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:102805614C>A	ENST00000264257.2	+	3	263	c.137C>A	c.(136-138)cCc>cAc	p.P46H	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000441515.2_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P46H	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	46	Ig-like C2-type 1.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						ACATTCCCTCCCATAACATCT	0.378													A	102805614	C	A	102805614	3	1	443	1	0	0	0	0	1	0	0	0	7722	623	22	4	143	4	IL1RL2	2	102805614	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	28120797	102805614	140393759	4	43015											
NEB	4703	broad.mit.edu	37	chr2	152521900	152521900	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgttccattgtgtccaTggcgtaagtgaacttcagct	7	14	10	10	1	1	1	1	1	0	0	3	1	3	1	3	1	3	3	3	1	2	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:152521900T>A	ENST00000397345.3	-	42	5387	c.5185A>T	c.(5185-5187)Atg>Ttg	p.M1729L	NEB_ENST00000604864.1_Missense_Mutation_p.M1729L|NEB_ENST00000409198.1_Missense_Mutation_p.M1729L|NEB_ENST00000427231.2_Missense_Mutation_p.M1729L|NEB_ENST00000603639.1_Missense_Mutation_p.M1729L|NEB_ENST00000172853.10_Missense_Mutation_p.M1729L	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1729					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		ATTGTGTCCATGGCGTAAGTG	0.507													A	152521900	T	A	152521900	3	1	443	1	0	0	0	0	1	0	0	0	10378	1464	51	5	21065	5	NEB	2	152521900	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	49716286	152521900	90677473	5	43016											
KLHL30	377007	broad.mit.edu	37	chr2	239051515	239051515	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggcgctggaggaggaggagGcaggtgaggagcccaccccc	9	2	19	11	1	0	1	0	1	0	0	0	6	0	6	3	8	1	2	3	8	0	0			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr2:239051515G>A	ENST00000409223.1	+	3	957	c.850G>A	c.(850-852)Gca>Aca	p.A284T	KLHL30_ENST00000305959.4_Missense_Mutation_p.A266T			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	284										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GGAGGAGGAGGCAGGTGAGGA	0.672													A	239051515	G	A	239051515	3	1	443	1	0	0	0	0	1	0	0	0	8442	1203	42	2	856	2	KLHL30	2	239051515	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	86529615	239051515	4147858	6	43017											
CD96	10225	broad.mit.edu	37	chr3	111197863	111197868	+	RNA	DEL	CACACA	CACACA	-																															cattccagaacgaacagcctCacacacacacacacacacac																								rs71968470		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:111197863_111197868delCACACA	ENST00000497896.1	-	0	208																											CGAACAGCCTcacacacacacacaca	0.544													-	111197868	CACACA	-	111197863	6	5	443	0	1	1	0	1	0	0	0	0	3078	841	29	0		0	CD96	3	111197863	RNA	DEL	CACACA	TCGA-E1-5318-01A-01D-1468-08		111197863	86824567	7	43018											
SI	6476	broad.mit.edu	37	chr3	164776970	164776970	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattaccaagatgatgacatAtttctgtccatggtcatgca	12	14	7	8	0	2	3	1	2	1	1	3	3	3	3	2	1	2	1	2	1	4	4	rs148511215	by1000genomes	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:164776970A>G	ENST00000264382.3	-	11	1326	c.1264T>C	c.(1264-1266)Tat>Cat	p.Y422H		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	422	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATGATGACATATTTCTGTCCA	0.323										HNSCC(35;0.089)			G	164776970	A	G	164776970	3	3	443	1	0	0	0	0	1	0	0	0	14391	449	16	3	4371	3	SI	3	164776970	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	53579107	164776970	33245460	8	43019											
ATP13A3	79572	broad.mit.edu	37	chr3	194170983	194170983	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatctcctggcacaaggtcGgtagaaaagatttcttctat	12	12	8	9	1	3	2	0	0	3	2	5	2	3	2	1	3	0	2	1	3	5	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:194170983G>A	ENST00000439040.1	-	11	1652	c.861C>T	c.(859-861)acC>acT	p.T287T	ATP13A3_ENST00000256031.4_Silent_p.T287T			Q9H7F0	AT133_HUMAN	ATPase type 13A3	287					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GCACAAGGTCGGTAGAAAAGA	0.343													A	194170983	G	A	194170983	2	1	443	1	0	0	0	0	0	0	0	1	1130	1103	39	1		1	ATP13A3	3	194170983	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08	29394013	194170983	3851447	9	43020											
MUC4	4585	broad.mit.edu	37	chr3	195505849	195505849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtggcgtgacctgtggatGctgaggaagtgtcggtgaca	7	9	19	6	2	0	3	0	3	0	0	1	5	0	5	1	5	1	1	1	5	1	0			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr3:195505849G>A	ENST00000463781.3	-	2	13061	c.12602C>T	c.(12601-12603)gCa>gTa	p.A4201V	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.A4201V|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	964					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATGCTGAGGAAGT	0.592													A	195505849	G	A	195505849	3	1	443	1	0	0	0	0	1	0	0	0	10054	1319	46	2		2	MUC4	3	195505849	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	1334866	195505849	2516581	10	43021											
FSTL5	56884	broad.mit.edu	37	chr4	162577528	162577528	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaataatattgttccttttCcagataatgggaggtctcag	12	14	9	6	0	1	2	1	0	1	2	4	3	3	3	2	2	0	1	2	2	4	7			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr4:162577528C>T	ENST00000306100.5	-	7	1282	c.846G>A	c.(844-846)tgG>tgA	p.W282*	FSTL5_ENST00000511170.1_5'UTR|FSTL5_ENST00000536695.1_Nonsense_Mutation_p.W281*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.W281*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.W281*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	282	Ig-like 1.					extracellular region	calcium ion binding	p.W282*(1)		central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TGTTCCTTTTCCAGATAATGG	0.353													T	162577528	C	T	162577528	4	4	443	1	0	0	0	0	0	1	0	0	6132	856	30	2	1737	2	FSTL5	4	162577528	Nonsense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		162577528	28576748	11	43022											
NAIP	4671	broad.mit.edu	37	chr5	70308387	70308387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacaatctggatgaaacCtcttgtggtcttctatgggg	9	12	10	10	0	4	1	0	1	4	0	4	2	4	2	2	4	1	0	2	4	3	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr5:70308387C>T	ENST00000517649.1	-	4	646	c.356G>A	c.(355-357)aGg>aAg	p.R119K	NAIP_ENST00000523981.1_Intron|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000508426.2_Missense_Mutation_p.R119K|NAIP_ENST00000194097.4_Missense_Mutation_p.R119K	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	119					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		TGGATGAAACCTCTTGTGGTC	0.473													T	70308387	C	T	70308387	3	4	443	1	0	0	0	0	1	0	0	0	10223	681	24	2	3911	2	NAIP	5	70308387	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		70308387	110606873	12	43023											
TTK	7272	broad.mit.edu	37	chr6	80746270	80746270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaattgattttgggattgCaaaccaaatgcaaccagata	15	11	8	7	0	0	2	0	1	0	1	0	3	0	3	2	1	4	3	2	1	5	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr6:80746270C>A	ENST00000509894.1	+	17	2829	c.2000C>A	c.(1999-2001)gCa>gAa	p.A667E	TTK_ENST00000369798.2_Missense_Mutation_p.A668E|TTK_ENST00000230510.3_Missense_Mutation_p.A667E			P33981	TTK_HUMAN	TTK protein kinase	668	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTTGGGATTGCAAACCAAATG	0.338													A	80746270	C	A	80746270	3	1	443	1	0	0	0	0	1	0	0	0	16822	710	25	4	2065	4	TTK	6	80746270	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		80746270	90368797	13	43024											
PSD3	23362	broad.mit.edu	37	chr8	18725224	18725224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggtgcctttcgtgtagaTggagtcgctggcatcattca	6	12	14	9	3	2	1	2	0	0	1	4	2	2	2	1	4	1	3	1	4	1	3	rs62636654		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:18725224T>C	ENST00000440756.2	-	4	1696	c.1594A>G	c.(1594-1596)Atc>Gtc	p.I532V	PSD3_ENST00000523619.1_Missense_Mutation_p.I467V|PSD3_ENST00000327040.8_Missense_Mutation_p.I532V			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	532					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		TTCGTGTAGATGGAGTCGCTG	0.507													C	18725224	T	C	18725224	3	2	443	1	0	0	0	0	1	0	0	0	12733	1464	51	3	1637	3	PSD3	8	18725224	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08		18725224	127638798	14	43025											
KCNU1	157855	broad.mit.edu	37	chr8	36671795	36671795	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcatattttgagtcaatttAcctggtcatggcaacaacgt	12	14	7	8	1	3	1	3	1	0	0	3	1	3	1	1	2	3	1	1	2	5	5			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr8:36671795A>G	ENST00000399881.3	+	8	840	c.803A>G	c.(802-804)tAc>tGc	p.Y268C		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	268						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GAGTCAATTTACCTGGTCATG	0.433													G	36671795	A	G	36671795	3	3	443	1	0	0	0	0	1	0	0	0	8151	391	14	3	833	3	KCNU1	8	36671795	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	17946571	36671795	109692227	15	43026											
KLHL9	55958	broad.mit.edu	37	chr9	21333865	21333865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaacggggagcatccattgGggctaaagatctccattctt	10	11	11	9	1	2	1	0	0	2	1	4	2	3	2	2	4	2	3	2	4	3	5			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:21333865G>A	ENST00000359039.4	-	1	1514	c.994C>T	c.(994-996)Cca>Tca	p.P332S	KLHL9_ENST00000537938.1_Missense_Mutation_p.P264S			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	332					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		GCATCCATTGGGGCTAAAGAT	0.418													A	21333865	G	A	21333865	3	1	443	1	0	0	0	0	1	0	0	0	8454	1232	43	2	863	2	KLHL9	9	21333865	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		21333865	119879566	16	43027											
SIT1	27240	broad.mit.edu	37	chr9	35650242	35650242	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggtcttgagacagccgtCctgggacggggaacaggaat	9	7	16	9	2	1	1	0	1	1	1	2	5	2	4	2	5	2	0	2	5	2	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr9:35650242C>T	ENST00000259608.3	-	4	382	c.296G>A	c.(295-297)gGa>gAa	p.G99E	SIT1_ENST00000474403.1_5'UTR	NM_014450.2	NP_055265.1	Q9Y3P8	SIT1_HUMAN	signaling threshold regulating transmembrane adaptor 1	99					regulation of T cell activation|signal transduction	integral to plasma membrane	kinase binding|SH2 domain binding			endometrium(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	9			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGACAGCCGTCCTGGGACGGG	0.627													T	35650242	C	T	35650242	5	4	443	1	0	0	0	0	0	0	1	0	14438	869	30	2	302	2	SIT1	9	35650242	Splice_Site	SNP	C	TCGA-E1-5318-01A-01D-1468-08	14316377	35650242	105563189	17	43028											
KNDC1	85442	broad.mit.edu	37	chr10	135038195	135038195	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgagccaggtgcacgCgttccaggagaacccttaca	9	7	14	11	2	0	2	0	1	0	1	1	3	1	2	3	4	4	2	3	4	2	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr10:135038195C>T	ENST00000304613.3	+	30	5072	c.5051C>T	c.(5050-5052)gCg>gTg	p.A1684V	KNDC1_ENST00000368572.2_Missense_Mutation_p.A1686V			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1684	Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CAGGTGCACGCGTTCCAGGAG	0.597													T	135038195	C	T	135038195	3	4	443	1	0	0	0	0	1	0	0	0	8484	768	27	1	5169	1	KNDC1	10	135038195	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		135038195	496552	18	43029											
OR52B6	340980	broad.mit.edu	37	chr11	5602864	5602864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctttctcaagatgcccGctccaaggccctgagtacct	7	10	7	17	1	1	2	1	1	1	1	4	2	3	2	6	1	2	2	6	1	3	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:5602864G>A	ENST00000345043.2	+	1	758	c.758G>A	c.(757-759)cGc>cAc	p.R253H	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGATGCCCGCTCCAAGGCC	0.507													A	5602864	G	A	5602864	3	1	443	1	0	0	0	0	1	0	0	0	11189	1087	38	1	760	1	OR52B6	11	5602864	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		5602864	129403652	19	43030											
OR4D10	390197	broad.mit.edu	37	chr11	59245574	59245574	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacatagtcatattatcattAcccaagtctcaggcaggaga	14	11	7	9	0	3	1	3	0	1	1	4	2	3	1	1	2	2	1	1	2	6	5			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:59245574A>T	ENST00000530162.1	+	1	729	c.672A>T	c.(670-672)ttA>ttT	p.L224F		NM_001004705.1	NP_001004705.1	Q8NGI6	OR4DA_HUMAN	olfactory receptor, family 4, subfamily D, member 10	224					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TATTATCATTACCCAAGTCTC	0.478													T	59245574	A	T	59245574	3	4	443	1	0	0	0	0	1	0	0	0	11130	388	14	5	674	5	OR4D10	11	59245574	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	53642710	59245574	75760942	20	43031											
MS4A6E	245802	broad.mit.edu	37	chr11	60105367	60105367	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacttcttctttcttatGattatcattcaccttacacc	9	17	2	13	0	5	2	2	1	3	1	5	2	5	2	3	0	1	0	3	0	3	7			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:60105367G>T	ENST00000300182.4	+	2	366	c.301G>T	c.(301-303)Gat>Tat	p.D101Y		NM_139249.2	NP_640342.1	Q96DS6	M4A6E_HUMAN	membrane-spanning 4-domains, subfamily A, member 6E	101						integral to membrane	receptor activity			endometrium(2)|kidney(1)|lung(9)|stomach(1)	13						TCTTTCTTATGATTATCATTC	0.403													T	60105367	G	T	60105367	3	4	443	1	0	0	0	0	1	0	0	0	9941	1290	45	4	307	4	MS4A6E	11	60105367	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	859793	60105367	74901149	21	43032											
AHNAK	79026	broad.mit.edu	37	chr11	62299210	62299210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacatccacttctgggccCtctgctttgaagccaggcat	7	12	8	14	0	3	1	1	1	2	0	4	1	4	1	3	2	2	2	3	2	1	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:62299210C>T	ENST00000378024.4	-	5	2953	c.2679G>A	c.(2677-2679)gaG>gaA	p.E893E	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	893					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTGGGCCCTCTGCTTTGA	0.517													T	62299210	C	T	62299210	2	4	443	1	0	0	0	0	0	0	0	1	414	680	24	2		2	AHNAK	11	62299210	Silent	SNP	C	TCGA-E1-5318-01A-01D-1468-08	2193843	62299210	72707306	22	43033											
CWF19L2	143884	broad.mit.edu	37	chr11	107224323	107224323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacagacatttttccattTgtgcagcaagactccgatgc	12	12	7	10	1	0	2	0	0	0	2	2	3	2	2	2	0	4	2	2	0	3	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:107224323T>C	ENST00000282251.5	-	13	2039	c.2012A>G	c.(2011-2013)cAa>cGa	p.Q671R	CWF19L2_ENST00000433523.1_Missense_Mutation_p.Q671R	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	671							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		TTTTTCCATTTGTGCAGCAAG	0.393													C	107224323	T	C	107224323	3	2	443	1	0	0	0	0	1	0	0	0	4105	1812	63	3	696	3	CWF19L2	11	107224323	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	44925113	107224323	27782193	23	43034											
DSCAML1	57453	broad.mit.edu	37	chr11	117308781	117308781	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctcgctgttgtccaccGagtactgtagcacgaagcct	8	10	9	14	3	0	0	0	0	0	0	3	2	2	0	4	0	3	5	4	0	3	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr11:117308781G>T	ENST00000321322.6	-	25	4443	c.4442C>A	c.(4441-4443)tCg>tAg	p.S1481*	DSCAML1_ENST00000527706.1_Nonsense_Mutation_p.S1211*	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1421	Fibronectin type-III 6.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTTGTCCACCGAGTACTGTAG	0.612													T	117308781	G	T	117308781	4	4	443	1	0	0	0	0	0	1	0	0	4808	1059	37	4	1935	4	DSCAML1	11	117308781	Nonsense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	10084458	117308781	17697735	24	43035											
KSR2	283455	broad.mit.edu	37	chr12	118016978	118016978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcccacagactgtgcacGtctgagacatccagtacttg	9	11	8	13	1	1	2	0	1	1	2	3	3	3	2	2	0	2	2	2	0	1	3			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr12:118016978G>A	ENST00000425217.1	-	7	1238	c.1184C>T	c.(1183-1185)aCg>aTg	p.T395M	KSR2_ENST00000339824.5_Missense_Mutation_p.T424M|KSR2_ENST00000302438.5_Missense_Mutation_p.T121M|KSR2_ENST00000545002.1_5'UTR	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	424					intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GACTGTGCACGTCTGAGACAT	0.468													A	118016978	G	A	118016978	3	1	443	1	0	0	0	0	1	0	0	0	8641	1145	40	1	1637	1	KSR2	12	118016978	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		118016978	15834917	25	43036											
LMO7	4008	broad.mit.edu	37	chr13	76382215	76382215	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gattcagtcctggaaactggGaactaccgtgcctcccatca	10	9	9	13	1	2	0	2	0	0	0	4	3	4	2	4	2	4	0	4	2	3	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr13:76382215G>A	ENST00000357063.3	+	11	3212	c.1952G>A	c.(1951-1953)gGa>gAa	p.G651E	LMO7_ENST00000321797.8_Missense_Mutation_p.G366E|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000377534.3_Missense_Mutation_p.G651E|LMO7_ENST00000341547.4_Intron|LMO7_ENST00000465261.2_Missense_Mutation_p.G366E			Q8WWI1	LMO7_HUMAN	LIM domain 7	651						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		TGGAAACTGGGAACTACCGTG	0.498													A	76382215	G	A	76382215	3	1	443	1	0	0	0	0	1	0	0	0	8916	1174	41	2	1994	2	LMO7	13	76382215	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		76382215	38787663	26	43037											
CYP1A1	1543	broad.mit.edu	37	chr15	75012968	75012968	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggatagccaggaagagaaaGacctcccagcgggcaatggt	14	4	14	9	1	0	2	0	0	0	2	1	5	1	4	3	4	2	1	3	4	4	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:75012968G>C	ENST00000379727.3	-	7	1599	c.1401C>G	c.(1399-1401)gtC>gtG	p.V467V	CYP1A1_ENST00000395049.4_Silent_p.V438V|CYP1A1_ENST00000395048.2_Silent_p.V467V|CYP1A1_ENST00000567032.1_Silent_p.V467V			P04798	CP1A1_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 1	467					cellular lipid metabolic process|drug metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding|vitamin D 24-hydroxylase activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(7)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34					Arsenic trioxide(DB01169)|Benzphetamine(DB00865)|Bleomycin(DB00290)|Chlorzoxazone(DB00356)|Dacarbazine(DB00851)|Dactinomycin(DB00970)|Esomeprazole(DB00736)|Estrone(DB00655)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Ginseng(DB01404)|Granisetron(DB00889)|Ketoconazole(DB01026)|Menadione(DB00170)|Picrotoxin(DB00466)|Primaquine(DB01087)|Quinidine(DB00908)|Quinine(DB00468)|Thiabendazole(DB00730)	GGAAGAGAAAGACCTCCCAGC	0.542									Endometrial Cancer, Familial Clustering of;ACTH-independent macronodular adrenal hyperplasia				C	75012968	G	C	75012968	2	2	443	1	0	0	0	0	0	0	0	1	4182	929	33	4		4	CYP1A1	15	75012968	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		75012968	27518424	27	43038											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000540499.2_Missense_Mutation_p.R120M	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								A	90631838	C	A	90631838	3	1	443	1	0	0	0	0	1	0	0	0	7553	681	24	4	875	4	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	15618870	90631838	11899554	28	43039											
CDH5	1003	broad.mit.edu	37	chr16	66436644	66436644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggagatccacgagcagctgGtcacctacgacgaggagggc	10	4	15	12	4	1	1	1	0	0	1	2	6	2	2	2	4	3	2	2	4	1	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr16:66436644G>A	ENST00000341529.3	+	12	2075	c.1927G>A	c.(1927-1929)Gtc>Atc	p.V643I	CDH5_ENST00000539168.1_Missense_Mutation_p.V82I	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	643					adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		CGAGCAGCTGGTCACCTACGA	0.711													A	66436644	G	A	66436644	3	1	443	1	0	0	0	0	1	0	0	0	3143	1261	44	2	1969	2	CDH5	16	66436644	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		66436644	23918109	29	43040											
KRT33B	3884	broad.mit.edu	37	chr17	39521763	39521763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcagcgtccacctccaCgttgaggcggtctccaagct	7	7	13	14	3	1	1	0	1	1	0	4	2	3	2	4	3	3	3	4	3	1	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr17:39521763C>T	ENST00000251646.3	-	4	680	c.631G>A	c.(631-633)Gtg>Atg	p.V211M		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	211	Linker 12.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				TCCACCTCCACGTTGAGGCGG	0.522													T	39521763	C	T	39521763	3	4	443	1	0	0	0	0	1	0	0	0	8528	536	19	1	599	1	KRT33B	17	39521763	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		39521763	41673447	30	43041											
EMILIN2	84034	broad.mit.edu	37	chr18	2913224	2913224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcctggaataccaccgccCtccaggagctttgcatacct	8	10	8	15	1	0	0	0	0	0	0	2	2	2	2	6	2	4	3	6	2	3	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr18:2913224C>T	ENST00000254528.3	+	8	3143	c.2984C>T	c.(2983-2985)cCt>cTt	p.P995L	EMILIN2_ENST00000308080.5_3'UTR	NM_032048.2	NP_114437.2	Q9BXX0	EMIL2_HUMAN	elastin microfibril interfacer 2	995	C1q.				cell adhesion	collagen	extracellular matrix constituent conferring elasticity|protein binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(4)	48				READ - Rectum adenocarcinoma(2;0.1)		TACCACCGCCCTCCAGGAGCT	0.632													T	2913224	C	T	2913224	3	4	443	1	0	0	0	0	1	0	0	0	5135	681	24	2	3014	2	EMILIN2	18	2913224	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		2913224	75164024	31	43042											
ELL	8178	broad.mit.edu	37	chr19	18557617	18557617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaaacgctgcaggttccGtttaaacctacgagagcaaa	13	8	10	10	3	0	1	0	0	0	1	1	3	1	2	2	2	5	5	2	2	5	4	rs73923115	byFrequency	TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:18557617G>A	ENST00000262809.4	-	9	1544	c.1473C>T	c.(1471-1473)aaC>aaT	p.N491N	ELL_ENST00000596124.3_Silent_p.N358N	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	491					positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	Cajal body|nuclear speck|transcription elongation factor complex	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		TGCAGGTTCCGTTTAAACCTA	0.572			T	MLL	AL								A	18557617	G	A	18557617	2	1	443	1	0	0	0	0	0	0	0	1	5103	1136	40	1		1	ELL	19	18557617	Silent	SNP	G	TCGA-E1-5318-01A-01D-1468-08		18557617	40571366	32	43043											
PRODH2	58510	broad.mit.edu	37	chr19	36302867	36302867	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgcttgagatccttacctgCccagagtccatagcttcagc	8	10	8	15	1	1	2	1	1	0	2	3	3	3	2	5	0	4	2	5	0	2	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:36302867C>T	ENST00000301175.3	-	5	839	c.822G>A	c.(820-822)ggG>ggA	p.G274G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	274					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TCCTTACCTGCCCAGAGTCCA	0.597													T	36302867	C	T	36302867	2	4	443	1	0	0	0	0	0	0	0	1	12635	726	26	2		2	PRODH2	19	36302867	Silent	SNP	C	TCGA-E1-5318-01A-01D-1468-08	17745250	36302867	22826116	33	43044											
CIC	23152	broad.mit.edu	37	chr19	42795241	42795242	+	Frame_Shift_Ins	INS	-	-	GCCCCCT																															ccggggtatggggcccctgcINSgccccctgctgtccagttca																										TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:42795241_42795242insGCCCCCT	ENST00000572681.2	+	11	5116_5117	c.5048_5049insGCCCCCT	c.(5047-5052)gcgcccfs	p.-1686fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.-777fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.-777fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGGCCCCTGCGCCCCCTGCTG	0.698			"Mis, F, S"		oligodendroglioma								GCCCCCT	42795242	-	GCCCCCT	42795241	7	5	443	1	0	1	1	0	0	0	0	0	3454	768	27	0	2359	0	CIC	19	42795241	Frame_Shift_Ins	INS	-	TCGA-E1-5318-01A-01D-1468-08	6492374	42795241	16333742	34	43045											
KLK4	9622	broad.mit.edu	37	chr19	51411835	51411835	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacacccgtgagctcacCgttcgccagcagaccccagc	10	4	8	19	3	1	2	1	1	0	1	2	2	1	2	5	0	3	3	5	0	0	1			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr19:51411835C>T	ENST00000324041.1	-	3	474	c.475G>A	c.(475-477)Ggc>Agc	p.G159S	KLK4_ENST00000431178.2_Splice_Site_p.G110R	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	159	Peptidase S1.		G -> D (in dbSNP:rs34626614).		proteolysis	extracellular region	metal ion binding|serine-type endopeptidase activity			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		GTGAGCTCACCGTTCGCCAGC	0.637													T	51411835	C	T	51411835	5	4	443	1	0	0	0	0	0	0	1	0	8464	666	23	1	301	1	KLK4	19	51411835	Splice_Site	SNP	C	TCGA-E1-5318-01A-01D-1468-08	8616594	51411835	7717148	35	43046											
BRWD1	54014	broad.mit.edu	37	chr21	40590181	40590181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaaatcaacagggcctgCaaaagctgctgctatatctg	14	8	8	11	0	2	0	1	0	1	0	2	0	2	0	1	1	5	4	1	1	6	2	rs75547980		TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chr21:40590181C>T	ENST00000342449.3	-	31	3634	c.3556G>A	c.(3556-3558)Gca>Aca	p.A1186T	BRWD1_ENST00000333229.2_Missense_Mutation_p.A1186T|BRWD1-IT1_ENST00000435608.1_RNA|BRWD1_ENST00000380800.3_Missense_Mutation_p.A1186T	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1186	Bromo 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				ACAGGGCCTGCAAAAGCTGCT	0.368													T	40590181	C	T	40590181	3	4	443	1	0	0	0	0	1	0	0	0	1534	710	25	2	3693	2	BRWD1	21	40590181	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08		40590181	7539714	36	43047											
ARSE	415	broad.mit.edu	37	chrX	2867631	2867631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgttccaggttgacacGcttctctgagagttcccagc	6	15	9	11	1	1	2	0	2	1	1	4	3	3	2	2	1	1	4	2	1	0	6			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:2867631G>A	ENST00000545496.1	-	7	934	c.643C>T	c.(643-645)Cgt>Tgt	p.R215C	ARSE_ENST00000381134.3_Missense_Mutation_p.R190C|ARSE_ENST00000540563.1_Missense_Mutation_p.R145C	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	190					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGTTGACACGCTTCTCTGAG	0.527													A	2867631	G	A	2867631	3	1	443	1	0	0	0	0	1	0	0	0	995	1087	38	1	1225	1	ARSE	23	2867631	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08		2867631	152402929	37	43048											
PDHA1	5160	broad.mit.edu	37	chrX	19368118	19368118	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgctcaccagggaggatGggctcaaatactacaggatg	12	7	13	9	0	2	0	2	0	0	0	2	3	2	3	1	4	3	2	1	4	3	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:19368118G>C	ENST00000379806.5	+	4	440	c.295G>C	c.(295-297)Ggg>Cgg	p.G99R	PDHA1_ENST00000545074.1_Missense_Mutation_p.G61R|PDHA1_ENST00000540249.1_Missense_Mutation_p.G61R|PDHA1_ENST00000379805.3_Missense_Mutation_p.G61R|PDHA1_ENST00000422285.2_Missense_Mutation_p.G61R	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	61					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CAGGGAGGATGGGCTCAAATA	0.453													C	19368118	G	C	19368118	3	2	443	1	0	0	0	0	1	0	0	0	11740	1348	47	4	309	4	PDHA1	23	19368118	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	16500487	19368118	135902442	38	43049											
MAGEB2	4113	broad.mit.edu	37	chrX	30237371	30237371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgaggaagagatctgggAattcctgaatatgttgggag	12	11	14	4	0	1	3	0	2	1	1	2	7	2	6	1	3	1	1	1	3	5	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:30237371A>T	ENST00000378988.4	+	2	775	c.674A>T	c.(673-675)gAa>gTa	p.E225V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	225	MAGE.						protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAGATCTGGGAATTCCTGAAT	0.483													T	30237371	A	T	30237371	3	4	443	1	0	0	0	0	1	0	0	0	9251	246	9	5	676	5	MAGEB2	23	30237371	Missense_Mutation	SNP	A	TCGA-E1-5318-01A-01D-1468-08	10869253	30237371	125033189	39	43050											
BCOR	54880	broad.mit.edu	37	chrX	39933875	39933875	+	Frame_Shift_Del	DEL	C	C	-																															cggcaggtagagaaagcgctCcccattggtgcagactggag																										TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:39933875delC	ENST00000342274.4	-	4	1086	c.724delG	c.(724-726)gagfs	p.E242fs	BCOR_ENST00000378444.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.E242fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.E242fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	242					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						AGAAAGCGCTCCCCATTGGTG	0.577			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39933875	C	-	39933875	7	5	443	1	0	1	0	1	0	0	0	0	1391	864	30	0	4591	0	BCOR	23	39933875	Frame_Shift_Del	DEL	C	TCGA-E1-5318-01A-01D-1468-08	9696504	39933875	115336685	40	43051											
NLGN3	54413	broad.mit.edu	37	chrX	70387552	70387552	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtttttggggttcctatGgtaggccccactgacctttt	5	17	10	9	0	0	1	0	1	0	0	1	1	1	1	4	4	0	3	4	4	3	8			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:70387552G>T	ENST00000374051.3	+	6	1867	c.1545G>T	c.(1543-1545)atG>atT	p.M515I	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000358741.3_Missense_Mutation_p.M535I|NLGN3_ENST00000536169.1_Missense_Mutation_p.M495I	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	535					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGGTTCCTATGGTAGGCCCCA	0.498													T	70387552	G	T	70387552	3	4	443	1	0	0	0	0	1	0	0	0	10539	1348	47	4	1627	4	NLGN3	23	70387552	Missense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	30453677	70387552	84883008	41	43052											
ATP7A	538	broad.mit.edu	37	chrX	77301816	77301816	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaaaccaacttacgagagtTatgaactgcctgcccggagc	12	7	11	11	2	0	2	0	1	0	1	0	5	0	4	3	2	7	1	3	2	5	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:77301816T>G	ENST00000341514.6	+	23	4407	c.4252T>G	c.(4252-4254)Tat>Gat	p.Y1418D	ATP7A_ENST00000343533.5_Missense_Mutation_p.Y1340D|ATP7A_ENST00000350425.4_Missense_Mutation_p.Y421D	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1418					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TTACGAGAGTTATGAACTGCC	0.413													G	77301816	T	G	77301816	3	3	443	1	0	0	0	0	1	0	0	0	1195	1754	61	5	4338	5	ATP7A	23	77301816	Missense_Mutation	SNP	T	TCGA-E1-5318-01A-01D-1468-08	6914264	77301816	77968744	42	43053											
PGRMC1	10857	broad.mit.edu	37	chrX	118370561	118370561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcacccccgccgagctgCggcgcttcgacggcgtccag	5	6	12	18	7	1	0	1	0	0	0	3	2	2	0	4	2	2	2	4	2	0	2			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:118370561C>T	ENST00000217971.7	+	1	346	c.235C>T	c.(235-237)Cgg>Tgg	p.R79W	PGRMC1_ENST00000535419.1_Missense_Mutation_p.R79W	NM_006667.3	NP_006658.1	O00264	PGRC1_HUMAN	progesterone receptor membrane component 1	79	Cytochrome b5 heme-binding.					cell surface|endoplasmic reticulum membrane|integral to membrane|microsome|nucleolus	heme binding|protein binding|receptor activity|steroid binding			lung(6)	6						CGCCGAGCTGCGGCGCTTCGA	0.711													T	118370561	C	T	118370561	3	4	443	1	0	0	0	0	1	0	0	0	11883	759	27	1	237	1	PGRMC1	23	118370561	Missense_Mutation	SNP	C	TCGA-E1-5318-01A-01D-1468-08	41068745	118370561	36899999	43	43054											
LAMP2	3920	broad.mit.edu	37	chrX	119581704	119581704	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agacacctataccttatcctGagtgatgttcagctgcagcc	10	11	8	12	0	1	3	1	2	0	1	2	3	2	3	4	0	4	3	4	0	3	4			TCGA-E1-5318-01A-01D-1468-08	TCGA-E1-5318-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c46a1df-1c10-4188-992a-a55b782494c9	0fce50b4-028d-4b54-aa49-3a8e28a7f7c6	g.chrX:119581704G>A	ENST00000371335.4	-	5	869	c.733C>T	c.(733-735)Cag>Tag	p.Q245*	LAMP2_ENST00000200639.4_Nonsense_Mutation_p.Q245*|LAMP2_ENST00000538785.1_Nonsense_Mutation_p.Q134*|LAMP2_ENST00000540603.1_Nonsense_Mutation_p.Q198*|LAMP2_ENST00000434600.2_Nonsense_Mutation_p.Q245*	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	245	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						ACCTTATCCTGAGTGATGTTC	0.403													A	119581704	G	A	119581704	4	1	443	1	0	0	0	0	0	1	0	0	8677	1299	45	2	810	2	LAMP2	23	119581704	Nonsense_Mutation	SNP	G	TCGA-E1-5318-01A-01D-1468-08	1211143	119581704	35688856	44	43055											
FUBP1	8880	broad.mit.edu	37	chr1	78432577	78432577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacattaccaggagctaTctgtattttgcatccagatt	11	15	7	8	0	1	1	0	0	1	1	2	2	2	2	2	1	4	4	2	1	4	7			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:78432577T>C	ENST00000370767.1	-	6	493	c.406A>G	c.(406-408)Ata>Gta	p.I136V	FUBP1_ENST00000436586.2_Missense_Mutation_p.I157V|FUBP1_ENST00000370768.2_Missense_Mutation_p.I136V			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	136	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCAGGAGCTATCTGTATTTTG	0.318			"F, N"		oligodendroglioma								C	78432577	T	C	78432577	3	2	444	1	0	0	0	0	1	0	0	0	6144	1435	50	3	1588	3	FUBP1	1	78432577	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		78432577	170818044	1	43056											
MARK1	4139	broad.mit.edu	37	chr1	220791711	220791711	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attgctgactttggttttagTaatgaatttacagttgggaa	11	17	10	3	0	0	2	0	2	0	0	0	3	0	3	0	2	2	4	0	2	5	8			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr1:220791711T>C	ENST00000402574.1	+	8	1209	c.207T>C	c.(205-207)agT>agC	p.S69S	MARK1_ENST00000366917.4_Silent_p.S204S|MARK1_ENST00000366918.4_Silent_p.S182S	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	204	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		TTGGTTTTAGTAATGAATTTA	0.383													C	220791711	T	C	220791711	2	2	444	1	0	0	0	0	0	0	0	1	9387	1635	57	3		3	MARK1	1	220791711	Silent	SNP	T	TCGA-E1-5319-01A-01D-1893-08	142359134	220791711	28458910	2	43057											
NCOA1	8648	broad.mit.edu	37	chr2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctttttcacctggcatggGcatgcagcccaggcaaactc	8	10	10	13	0	1	0	1	0	0	0	2	0	1	0	2	3	4	5	2	3	1	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:24952593G>A	ENST00000405141.1	+	18	3821	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000406961.1_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma								A	24952593	G	A	24952593	3	1	444	1	0	0	0	0	1	0	0	0	10304	1203	42	2	3160	2	NCOA1	2	24952593	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		24952593	218246780	3	43058											
SPTBN1	6711	broad.mit.edu	37	chr2	54876248	54876248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctcaaccgggaggtggAcgacctggagcagtggatcg	9	5	16	11	3	1	0	1	0	0	0	2	5	1	4	3	5	3	2	3	5	1	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:54876248A>G	ENST00000333896.5	+	24	5469	c.5084A>G	c.(5083-5085)gAc>gGc	p.D1695G	SPTBN1_ENST00000356805.4_Missense_Mutation_p.D1708G	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1708	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CGGGAGGTGGACGACCTGGAG	0.542													G	54876248	A	G	54876248	3	3	444	1	0	0	0	0	1	0	0	0	15215	275	10	3	5330	3	SPTBN1	2	54876248	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08	29923655	54876248	188323125	4	43059											
TET3	200424	broad.mit.edu	37	chr2	74300737	74300737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggatctggccccacggtCgcctctatccgggaactcat	6	10	11	14	3	3	0	1	0	2	0	5	2	4	2	4	4	1	0	4	4	2	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:74300737C>T	ENST00000409262.3	+	2	2151	c.2151C>T	c.(2149-2151)gtC>gtT	p.V717V		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	717							metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCCCCACGGTCGCCTCTATCC	0.448													T	74300737	C	T	74300737	2	4	444	1	0	0	0	0	0	0	0	1	15871	871	31	1		1	TET3	2	74300737	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	19424489	74300737	168898636	5	43060											
MBD5	55777	broad.mit.edu	37	chr2	149241058	149241058	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctcaacccgaatgtaaaCgctgctttagcttttctctc	8	16	5	12	2	2	0	1	0	2	0	5	1	2	0	1	0	4	4	1	0	5	6			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:149241058C>T	ENST00000404807.1	+	5	3027	c.2898C>T	c.(2896-2898)aaC>aaT	p.N966N	MBD5_ENST00000407073.1_Intron			Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	971						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		CGAATGTAAACGCTGCTTTAG	0.473													T	149241058	C	T	149241058	2	4	444	1	0	0	0	0	0	0	0	1	9422	551	19	1		1	MBD5	2	149241058	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	74940321	149241058	93958315	6	43061											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	444	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	59872054	209113112	34086261	7	43062											
MYH15	22989	broad.mit.edu	37	chr3	108172944	108172944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gactttagatagtctctcatCtcttattgcttccagttggc	7	17	7	10	0	3	1	1	0	2	1	6	2	4	1	1	1	1	2	1	1	3	7			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:108172944C>G	ENST00000273353.3	-	22	2424	c.2368G>C	c.(2368-2370)Gat>Cat	p.D790H		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	790	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AGTCTCTCATCTCTTATTGCT	0.393													G	108172944	C	G	108172944	3	3	444	1	0	0	0	0	1	0	0	0	10110	913	32	4	3556	4	MYH15	3	108172944	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		108172944	89849486	8	43063											
SPSB4	92369	broad.mit.edu	37	chr3	140785590	140785590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgtacccggtggtgagtgCcgtgtggggccactgtgaag	5	9	18	9	2	0	2	0	2	0	0	0	2	0	2	3	4	2	2	3	4	2	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:140785590C>T	ENST00000310546.2	+	2	1388	c.644C>T	c.(643-645)gCc>gTc	p.A215V		NM_080862.1	NP_543138.1	Q96A44	SPSB4_HUMAN	splA/ryanodine receptor domain and SOCS box containing 4	215	B30.2/SPRY.				intracellular signal transduction	cytoplasm	protein binding			biliary_tract(1)|large_intestine(1)|lung(1)|pancreas(1)	4						GTGGTGAGTGCCGTGTGGGGC	0.617													T	140785590	C	T	140785590	3	4	444	1	0	0	0	0	1	0	0	0	15211	739	26	2	646	2	SPSB4	3	140785590	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	32612646	140785590	57236840	9	43064											
SI	6476	broad.mit.edu	37	chr3	164767582	164767582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaccaaataaattttaccagGagtaaacggtggataattca	18	10	7	6	1	1	0	1	0	0	0	1	2	1	2	2	3	3	1	2	3	8	6			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr3:164767582G>A	ENST00000264382.3	-	14	1656	c.1594C>T	c.(1594-1596)Cct>Tct	p.P532S		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	532	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	ATTTTACCAGGAGTAAACGGT	0.264										HNSCC(35;0.089)			A	164767582	G	A	164767582	3	1	444	1	0	0	0	0	1	0	0	0	14391	1174	41	2	4029	2	SI	3	164767582	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	23981992	164767582	33254848	10	43065											
PDE6B	5158	broad.mit.edu	37	chr4	658702	658702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacagcctgcgacctgtctgCcatcaccaagccctgggaag	9	6	11	15	1	2	0	1	0	1	0	2	3	2	1	5	1	4	0	5	1	2	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:658702C>T	ENST00000255622.6	+	18	2205	c.2162C>T	c.(2161-2163)gCc>gTc	p.A721V	PDE6B_ENST00000429163.2_Missense_Mutation_p.A442V|PDE6B_ENST00000496514.1_Missense_Mutation_p.A721V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	721					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						GACCTGTCTGCCATCACCAAG	0.602													T	658702	C	T	658702	3	4	444	1	0	0	0	0	1	0	0	0	11722	739	26	2	2232	2	PDE6B	4	658702	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		658702	190495574	11	43066											
YTHDC1	91746	broad.mit.edu	37	chr4	69179953	69179953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtctcgctctcgttccCggtctctttcacggggtcta	2	13	12	14	5	5	0	1	0	4	0	9	0	6	0	1	5	0	2	1	5	1	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr4:69179953C>T	ENST00000344157.4	-	17	2383	c.2048G>A	c.(2047-2049)cGg>cAg	p.R683Q	YTHDC1_ENST00000355665.3_Missense_Mutation_p.R665Q|YTHDC1_ENST00000579690.1_Missense_Mutation_p.R691Q	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	683	Arg-rich.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						ctctcgttcccggtctctttc	0.493													T	69179953	C	T	69179953	3	4	444	1	0	0	0	0	1	0	0	0	17598	652	23	1	139	1	YTHDC1	4	69179953	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	68521251	69179953	121974323	12	43067											
BTNL3	10917	broad.mit.edu	37	chr5	180420089	180420089	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatcactccctcggacaTcggcctgtatgggtgctggt	8	10	11	12	2	1	0	1	0	0	0	4	1	2	1	2	4	2	2	2	4	2	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr5:180420089T>A	ENST00000342868.6	+	2	510	c.326T>A	c.(325-327)aTc>aAc	p.I109N		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	109					lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CCCTCGGACATCGGCCTGTAT	0.522													A	180420089	T	A	180420089	3	1	444	1	0	0	0	0	1	0	0	0	1576	1435	50	5	332	5	BTNL3	5	180420089	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		180420089	495171	13	43068											
SYNGAP1	8831	broad.mit.edu	37	chr6	33405883	33405883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggttgcccggctgtgCggctgaaagcacgttaccag	9	7	15	10	3	0	1	0	1	0	0	0	2	0	2	2	4	4	5	2	4	3	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:33405883C>T	ENST00000418600.2	+	8	1302	c.1201C>T	c.(1201-1203)Cgg>Tgg	p.R401W	SYNGAP1_ENST00000428982.2_Missense_Mutation_p.R342W|SYNGAP1_ENST00000496374.1_3'UTR|SYNGAP1_ENST00000293748.5_Missense_Mutation_p.R401W	NM_006772.2	NP_006763.2	Q96PV0	SYGP1_HUMAN	synaptic Ras GTPase activating protein 1	401					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity|SH3 domain binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(15)|ovary(7)|pancreas(1)|stomach(1)|urinary_tract(1)	43						CCCGGCTGTGCGGCTGAAAGC	0.592													T	33405883	C	T	33405883	3	4	444	1	0	0	0	0	1	0	0	0	15544	759	27	1	1231	1	SYNGAP1	6	33405883	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		33405883	137709184	14	43069											
SYNE1	23345	broad.mit.edu	37	chr6	152831491	152831491	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctggggcaggttgcTggtcaactcttcaatctgtt	6	13	13	9	0	4	0	2	0	2	0	4	1	4	1	0	5	3	5	0	5	2	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:152831491T>C	ENST00000367255.5	-	8	1019	c.418A>G	c.(418-420)Agc>Ggc	p.S140G	SYNE1_ENST00000466159.2_Missense_Mutation_p.S140G|SYNE1_ENST00000265368.4_Missense_Mutation_p.S140G|SYNE1_ENST00000413186.2_Missense_Mutation_p.S140G|SYNE1_ENST00000341594.5_Missense_Mutation_p.S140G|SYNE1_ENST00000448038.1_Missense_Mutation_p.S147G|SYNE1_ENST00000367248.3_Missense_Mutation_p.S147G|SYNE1_ENST00000423061.1_Missense_Mutation_p.S147G|SYNE1_ENST00000367253.4_Missense_Mutation_p.S140G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	140	Actin-binding.				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)		GGCAGGTTGCTGGTCAACTCT	0.448										HNSCC(10;0.0054)			C	152831491	T	C	152831491	3	2	444	1	0	0	0	0	1	0	0	0	15542	1580	55	3	26604	3	SYNE1	6	152831491	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08	119425608	152831491	18283576	15	43070											
SYNJ2	8871	broad.mit.edu	37	chr6	158504625	158504627	+	In_Frame_Del	DEL	AGA	AGA	-																															acaagtttggactatgagtcAgaaggttagtgaccctgcag																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr6:158504625_158504627delAGA	ENST00000355585.4	+	21	3105_3107	c.3030_3032delAGA	c.(3028-3033)tcagaa>tca	p.E1011del	SYNJ2_ENST00000367112.1_In_Frame_Del_p.E96del|SYNJ2_ENST00000367121.3_In_Frame_Del_p.E1011del|SYNJ2_ENST00000367122.2_In_Frame_Del_p.E1011del	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	1011							nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		ACTATGAGTCAGAAGGTTAGTGA	0.517													-	158504627	AGA	-	158504625	7	5	444	1	0	1	0	1	0	0	0	0	15550	175	7	0	3112	0	SYNJ2	6	158504625	In_Frame_Del	DEL	AGA	TCGA-E1-5319-01A-01D-1893-08	5673134	158504625	12610442	16	43071											
ACTB	60	broad.mit.edu	37	chr7	5567674	5567676	+	In_Frame_Del	DEL	CTT	CTT	-																															ggtgccagggcagtgatctcCttctgcatcctgtcggcaat																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:5567674_5567676delCTT	ENST00000331789.5	-	5	1134_1136	c.943_945delAAG	c.(943-945)aagdel	p.K315del	ACTB_ENST00000464611.1_5'UTR	NM_001101.3	NP_001092.1	P60709	ACTB_HUMAN	actin, beta	315					'de novo' posttranslational protein folding|adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol|MLL5-L complex|NuA4 histone acetyltransferase complex|ribonucleoprotein complex	ATP binding|kinesin binding|nitric-oxide synthase binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(2)|prostate(2)	8		Ovarian(82;0.0606)		UCEC - Uterine corpus endometrioid carcinoma (126;0.175)|OV - Ovarian serous cystadenocarcinoma(56;4.24e-37)		CAGTGATCTCCTTCTGCATCCTG	0.581													-	5567676	CTT	-	5567674	7	5	444	1	0	1	0	1	0	0	0	0	193	680	24	0	190	0	ACTB	7	5567674	In_Frame_Del	DEL	CTT	TCGA-E1-5319-01A-01D-1893-08		5567674	153570989	17	43072											
MGAM	8972	broad.mit.edu	37	chr7	141799485	141799485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacattaatcttcatgtcCgtgggggctacatcctgccc	8	11	8	14	1	2	0	1	0	1	0	4	0	4	0	4	2	2	1	4	2	2	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:141799485C>T	ENST00000475668.2	+	67	7876	c.7822C>T	c.(7822-7824)Cgt>Tgt	p.R2608C	MGAM_ENST00000549489.2_Missense_Mutation_p.R1712C			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1712					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TCTTCATGTCCGTGGGGGCTA	0.498													T	141799485	C	T	141799485	3	4	444	1	0	0	0	0	1	0	0	0	9616	652	23	1	5304	1	MGAM	7	141799485	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	136231811	141799485	17339178	18	43073											
SSPO	23145	broad.mit.edu	37	chr7	149486393	149486393	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgtgcccccagggcttgCtggcctgtgccgatggacgc	4	8	14	15	3	0	0	0	0	0	0	1	2	1	1	5	3	3	2	5	3	0	1	rs116737043	by1000genomes	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr7:149486393C>T	ENST00000378016.2	+	0	4369							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CCAGGGCTTGCTGGCCTGTGC	0.677													T	149486393	C	T	149486393	1	4	444	0	1	0	0	0	0	0	0	0	15285	796	28	2		2	SSPO	7	149486393	RNA	SNP	C	TCGA-E1-5319-01A-01D-1893-08	7686908	149486393	9652270	19	43074											
CLN8	2055	broad.mit.edu	37	chr8	1728624	1728624	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatccatattggacccAtaagaagactcagcagcttc	14	10	6	11	0	1	2	1	0	0	2	3	3	2	3	2	1	2	2	2	1	4	5			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr8:1728624A>C	ENST00000331222.4	+	3	999	c.752A>C	c.(751-753)cAt>cCt	p.H251P	CLN8_ENST00000523237.1_3'UTR	NM_018941.3	NP_061764.2	Q9UBY8	CLN8_HUMAN	ceroid-lipofuscinosis, neuronal 8 (epilepsy, progressive with mental retardation)	251	TLC.				cell death|ceramide biosynthetic process|cholesterol metabolic process|lipid transport|negative regulation of proteolysis|phospholipid metabolic process	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|integral to membrane				central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24		Ovarian(12;0.0563)|Colorectal(14;0.0815)|Hepatocellular(245;0.0831)		BRCA - Breast invasive adenocarcinoma(11;7.67e-05)|READ - Rectum adenocarcinoma(644;0.0913)		TATTGGACCCATAAGAAGACT	0.542													C	1728624	A	C	1728624	3	2	444	1	0	0	0	0	1	0	0	0	3577	217	8	5	758	5	CLN8	8	1728624	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08		1728624	144635398	20	43075											
OR1L3	26735	broad.mit.edu	37	chr9	125437655	125437655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcccaaagatgctcGtgaacttcttatcagagaaa	14	11	7	9	1	3	3	2	1	1	2	5	4	4	3	1	0	2	1	1	0	5	3	rs142972365		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:125437655G>A	ENST00000304820.2	+	1	341	c.247G>A	c.(247-249)Gtg>Atg	p.V83M		NM_001005234.1	NP_001005234.1	Q8NH93	OR1L3_HUMAN	olfactory receptor, family 1, subfamily L, member 3	83					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	16						AAAGATGCTCGTGAACTTCTT	0.398													A	125437655	G	A	125437655	3	1	444	1	0	0	0	0	1	0	0	0	11040	1145	40	1	249	1	OR1L3	9	125437655	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		125437655	15775776	21	43076											
UCK1	83549	broad.mit.edu	37	chr9	134404915	134404915	+	Frame_Shift_Del	DEL	T	T	-																															ataggtcggcacctccaccgTtttgccctccacgatgttct																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr9:134404915delT	ENST00000372215.4	-	3	418	c.325delA	c.(325-327)acgfs	p.T109fs	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.T100fs|UCK1_ENST00000372208.3_Frame_Shift_Del_p.T109fs|UCK1_ENST00000372211.3_Frame_Shift_Del_p.T114fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	109					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		ACCTCCACCGTTTTGCCCTCC	0.557													-	134404915	T	-	134404915	7	5	444	1	0	1	0	1	0	0	0	0	17025	1725	60	0	528	0	UCK1	9	134404915	Frame_Shift_Del	DEL	T	TCGA-E1-5319-01A-01D-1893-08	8967260	134404915	6808516	22	43077											
CDH23	64072	broad.mit.edu	37	chr10	73453969	73453969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatacatcctcatcgttcgcGcagtggacgggggtgtgggc	7	9	15	10	4	1	0	1	0	0	0	4	1	2	1	1	4	1	2	1	4	2	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:73453969G>A	ENST00000224721.6	+	20	2262	c.2257G>A	c.(2257-2259)Gca>Aca	p.A753T	CDH23_ENST00000299366.7_Missense_Mutation_p.A793T	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	748	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CATCGTTCGCGCAGTGGACGG	0.627													A	73453969	G	A	73453969	3	1	444	1	0	0	0	0	1	0	0	0	3138	1087	38	1	2547	1	CDH23	10	73453969	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08		73453969	62080778	23	43078											
AGAP11	119385	broad.mit.edu	37	chr10	88767684	88767686	+	RNA	DEL	TCT	TCT	-																															tccaaacaacagaaaatgtaTcttttttttttttttttttt																								rs71019446		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr10:88767684_88767686delTCT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AGAAAATGTATCttttttttttt	0.414													-	88767686	TCT	-	88767684	6	5	444	0	1	1	0	1	0	0	0	0	367	1450	50	0		0	AGAP11	10	88767684	RNA	DEL	TCT	TCGA-E1-5319-01A-01D-1893-08	15313715	88767684	46767063	24	43079											
SLC22A8	9376	broad.mit.edu	37	chr11	62763251	62763251	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacttgcggtgtacttggccTtggccaaggagatctccttc	6	12	11	12	1	1	1	0	0	1	1	3	2	1	1	3	4	2	1	3	4	2	5			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:62763251T>C	ENST00000336232.2	-	7	1061	c.926A>G	c.(925-927)aAg>aGg	p.K309R	SLC22A8_ENST00000545207.1_Missense_Mutation_p.K218R|SLC22A8_ENST00000311438.8_Missense_Mutation_p.K309R|SLC22A8_ENST00000430500.2_Missense_Mutation_p.K309R|SLC22A8_ENST00000535878.1_Missense_Mutation_p.K186R	NM_001184732.1|NM_001184736.1|NM_004254.3	NP_001171661.1|NP_001171665.1|NP_004245.2	Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	309					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GTACTTGGCCTTGGCCAAGGA	0.597													C	62763251	T	C	62763251	3	2	444	1	0	0	0	0	1	0	0	0	14554	1609	56	3	722	3	SLC22A8	11	62763251	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08		62763251	72243265	25	43080											
RELT	84957	broad.mit.edu	37	chr11	73102213	73102213	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgggccttggggggttccCcgcgttccatgtcaaccatg	4	12	13	12	2	1	0	1	0	0	0	3	0	3	0	5	4	1	2	5	4	1	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:73102213C>T	ENST00000064780.2	+	5	573	c.312C>T	c.(310-312)ccC>ccT	p.P104P	RELT_ENST00000393580.2_Silent_p.P104P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	104						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GGGGGGTTCCCCGCGTTCCAT	0.587													T	73102213	C	T	73102213	2	4	444	1	0	0	0	0	0	0	0	1	13309	610	22	2		2	RELT	11	73102213	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	10338962	73102213	61904303	26	43081											
SYTL2	54843	broad.mit.edu	37	chr11	85420400	85420400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgctgtttttttacatcCgctgctgctaagtccttaca	8	15	7	11	2	0	0	0	0	0	0	2	1	2	0	2	0	5	5	2	0	4	6			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:85420400C>T	ENST00000359152.5	-	6	4511	c.4512G>A	c.(4510-4512)gcG>gcA	p.A1504A	SYTL2_ENST00000533892.1_Silent_p.A60A|SYTL2_ENST00000524452.1_Silent_p.A634A|SYTL2_ENST00000527523.1_Silent_p.A626A|SYTL2_ENST00000389958.3_Silent_p.A89A|SYTL2_ENST00000525702.1_Silent_p.A100A|SYTL2_ENST00000354566.3_Silent_p.A996A|SYTL2_ENST00000525423.1_Silent_p.A980A|SYTL2_ENST00000528231.1_Silent_p.A658A|SYTL2_ENST00000316356.4_Silent_p.A659A|SYTL2_ENST00000389960.4_Silent_p.A634A|SYTL2_ENST00000529581.1_Silent_p.A100A	NM_206928.2	NP_996811.1	Q9HCH5	SYTL2_HUMAN	synaptotagmin-like 2	658					intracellular protein transport|vesicle docking involved in exocytosis	exocytic vesicle|extrinsic to plasma membrane|melanosome|membrane fraction	neurexin binding|phosphatidylinositol-4,5-bisphosphate binding|phosphatidylserine binding|Rab GTPase binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(22)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)		KIRC - Kidney renal clear cell carcinoma(183;0.202)|Kidney(183;0.237)		TTTTTACATCCGCTGCTGCTA	0.398													T	85420400	C	T	85420400	2	4	444	1	0	0	0	0	0	0	0	1	15580	639	23	1		1	SYTL2	11	85420400	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	12318187	85420400	49586116	27	43082											
RDX	5962	broad.mit.edu	37	chr11	110104176	110104176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttaactcttctttggtcTtttccaagtcttcctgggct	4	21	6	10	0	4	0	0	0	4	0	6	0	6	0	2	2	1	1	2	2	2	8			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:110104176T>C	ENST00000343115.4	-	13	1692	c.1373A>G	c.(1372-1374)aAg>aGg	p.K458R	RDX_ENST00000528900.1_Missense_Mutation_p.K111R|RDX_ENST00000528498.1_Missense_Mutation_p.K458R|RDX_ENST00000544551.1_Missense_Mutation_p.K322R|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.K458R	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	458	Glu-rich.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		TTCTTTGGTCTTTTCCAAGTC	0.403													C	110104176	T	C	110104176	3	2	444	1	0	0	0	0	1	0	0	0	13286	1609	56	3	386	3	RDX	11	110104176	Missense_Mutation	SNP	T	TCGA-E1-5319-01A-01D-1893-08	24683776	110104176	24902340	28	43083											
CD3D	915	broad.mit.edu	37	chr11	118211223	118211223	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagagcagtgttcccacCgttccctctacccatgtgat	7	12	8	14	1	2	2	0	2	2	1	4	3	4	2	4	0	2	3	4	0	1	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:118211223C>T	ENST00000300692.4	-	2	277	c.141G>A	c.(139-141)acG>acA	p.T47T	CD3D_ENST00000392884.2_Silent_p.T47T|CD3D_ENST00000529594.1_Intron	NM_000732.4	NP_000723.1	P04234	CD3D_HUMAN	CD3d molecule, delta (CD3-TCR complex)	47					positive thymic T cell selection|T cell costimulation|T cell receptor signaling pathway	cytoplasm|integral to membrane	protein heterodimerization activity			large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	9	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTGTTCCCACCGTTCCCTCTA	0.458													T	118211223	C	T	118211223	2	4	444	1	0	0	0	0	0	0	0	1	3040	639	23	1		1	CD3D	11	118211223	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08	8107047	118211223	16795293	29	43084											
C11orf63	79864	broad.mit.edu	37	chr11	122774732	122774732	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtctgtggaagcgttgccGgagtccacggacagctcttt	6	11	13	11	3	2	0	0	0	2	0	3	3	3	3	2	3	3	2	2	3	1	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr11:122774732G>A	ENST00000227349.2	+	3	741	c.444G>A	c.(442-444)ccG>ccA	p.P148P	C11orf63_ENST00000307257.6_Silent_p.P148P|C11orf63_ENST00000531316.1_Silent_p.P148P	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	148										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		AAGCGTTGCCGGAGTCCACGG	0.532													A	122774732	G	A	122774732	2	1	444	1	0	0	0	0	0	0	0	1	1666	1103	39	1		1	C11orf63	11	122774732	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	4563509	122774732	12231784	30	43085											
DDX11	1663	broad.mit.edu	37	chr12	31244796	31244796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcacagcgtggaggtcagCggctcccaggtgtgtgggcc	6	7	17	11	2	1	0	1	0	0	0	2	1	2	1	2	5	3	2	2	5	0	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:31244796C>T	ENST00000407793.2	+	10	1484	c.1233C>T	c.(1231-1233)agC>agT	p.S411S	DDX11_ENST00000228264.6_Silent_p.S385S|DDX11_ENST00000542838.1_Silent_p.S411S|DDX11_ENST00000350437.4_Silent_p.S411S|DDX11_ENST00000545668.1_Silent_p.S411S|DDX11_ENST00000251758.5_3'UTR	NM_030653.3|NM_152438.1	NP_085911.2|NP_689651.1	Q96FC9	DDX11_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11	411	Helicase ATP-binding.				G2/M transition of mitotic cell cycle|interspecies interaction between organisms|mitotic sister chromatid segregation|positive regulation of cell proliferation|S phase of mitotic cell cycle|sister chromatid cohesion	midbody|nuclear chromatin|nucleolus|spindle pole	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|RNA binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(11)|large_intestine(5)|lung(23)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	57	all_cancers(9;1.77e-11)|all_lung(12;6.21e-11)|all_epithelial(9;6.49e-11)|Lung NSC(12;1.06e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Lung SC(12;0.0592)|Esophageal squamous(101;0.233)					TGGAGGTCAGCGGCTCCCAGG	0.662										Multiple Myeloma(12;0.14)			T	31244796	C	T	31244796	2	4	444	1	0	0	0	0	0	0	0	1	4377	767	27	1		1	DDX11	12	31244796	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08		31244796	102607099	31	43086											
AGAP2	116986	broad.mit.edu	37	chr12	58126704	58126704	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcgtttcatgtccgcGcacagagctctggcacgagc	7	8	12	14	4	2	1	1	0	1	1	3	2	3	1	1	1	4	5	1	1	0	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:58126704G>A	ENST00000257897.3	-	6	685	c.600C>T	c.(598-600)tgC>tgT	p.C200C	AGAP2_ENST00000547588.1_Silent_p.C536C	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	536	Interactions with HOMER1 and NF2 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						TCATGTCCGCGCACAGAGCTC	0.567													A	58126704	G	A	58126704	2	1	444	1	0	0	0	0	0	0	0	1	368	1079	38	1		1	AGAP2	12	58126704	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	26881908	58126704	75725191	32	43087											
LRIG3	121227	broad.mit.edu	37	chr12	59272814	59272814	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctgggtgccccacagcAgcacactccaagcgtgccat	8	5	13	15	1	0	0	0	0	0	0	1	0	1	0	4	3	5	3	4	3	1	0			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:59272814A>C	ENST00000320743.3	-	14	2161	c.1875T>G	c.(1873-1875)gcT>gcG	p.A625A	LRIG3_ENST00000379141.4_Silent_p.A565A	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	625	Ig-like C2-type 2.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCCCCACAGCAGCACACTCCA	0.587			T	ROS1	NSCLC								C	59272814	A	C	59272814	2	2	444	1	0	0	0	0	0	0	0	1	9016	175	7	5		5	LRIG3	12	59272814	Silent	SNP	A	TCGA-E1-5319-01A-01D-1893-08	1146110	59272814	74579081	33	43088											
COQ5	84274	broad.mit.edu	37	chr12	120966932	120966932	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccatagagcacagctccCgggggccgccatcttggtag	7	7	13	14	2	1	1	0	0	1	1	3	1	3	1	4	3	2	4	4	3	2	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:120966932C>A	ENST00000288532.6	-	1	53	c.13G>T	c.(13-15)Ggg>Tgg	p.G5W	COQ5_ENST00000445328.2_Missense_Mutation_p.G5W	NM_032314.3	NP_115690.3	Q5HYK3	COQ5_HUMAN	coenzyme Q5 homolog, methyltransferase (S. cerevisiae)	5					ubiquinone biosynthetic process	mitochondrion	methyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(1)|prostate(1)|urinary_tract(3)	20	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GCACAGCTCCCGGGGGCCGCC	0.652													A	120966932	C	A	120966932	3	1	444	1	0	0	0	0	1	0	0	0	3779	652	23	4	998	4	COQ5	12	120966932	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	61694118	120966932	12884963	34	43089											
LRRC43	254050	broad.mit.edu	37	chr12	122677545	122677545	+	Frame_Shift_Del	DEL	C	C	-																															agatccccggctctgcccgtCcccagggtaaggatggaaat																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr12:122677545delC	ENST00000339777.4	+	7	1371	c.1343delC	c.(1342-1344)tccfs	p.S448fs	LRRC43_ENST00000425921.1_Frame_Shift_Del_p.S263fs	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	448										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CTCTGCCCGTCCCCAGGGTAA	0.577													-	122677545	C	-	122677545	7	5	444	1	0	1	0	1	0	0	0	0	9071	855	30	0	1369	0	LRRC43	12	122677545	Frame_Shift_Del	DEL	C	TCGA-E1-5319-01A-01D-1893-08	1710613	122677545	11174350	35	43090											
HTR2A	3356	broad.mit.edu	37	chr13	47409749	47409750	+	Frame_Shift_Del	DEL	AA	AA	-																															ttcgaatcgtcctgtagcccAaagactggtattggcatgga																								rs143289722		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr13:47409749_47409750delAA	ENST00000378688.4	-	3	769_770	c.638_639delTT	c.(637-639)tttfs	p.F213fs	HTR2A_ENST00000542664.1_Frame_Shift_Del_p.F213fs|HTR2A_ENST00000543956.1_Frame_Shift_Del_p.F129fs			P28223	5HT2A_HUMAN	5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled	213					ERK1 and ERK2 cascade|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	integral to plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_lung(13;7.2e-10)|Lung NSC(96;3.77e-07)|Breast(56;2.06e-05)|Prostate(109;0.00116)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|Myeloproliferative disorder(33;0.0333)		GBM - Glioblastoma multiforme(144;4.67e-05)|COAD - Colon adenocarcinoma(199;0.224)	Aripiprazole(DB01238)|Chlorpromazine(DB00477)|Chlorprothixene(DB01239)|Cisapride(DB00604)|Clomipramine(DB01242)|Clozapine(DB00363)|Cyclobenzaprine(DB00924)|Cyproheptadine(DB00434)|Dihydroergotamine(DB00320)|Donepezil(DB00843)|Epinastine(DB00751)|Ergotamine(DB00696)|Fluvoxamine(DB00176)|Mesoridazine(DB00933)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Olanzapine(DB00334)|Paliperidone(DB01267)|Paroxetine(DB00715)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Thioridazine(DB00679)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)	CCTGTAGCCCAAAGACTGGTAT	0.396													-	47409750	AA	-	47409749	7	5	444	1	0	1	0	1	0	0	0	0	7499	127	5	0	780	0	HTR2A	13	47409749	Frame_Shift_Del	DEL	AA	TCGA-E1-5319-01A-01D-1893-08		47409749	67760129	36	43091											
IL21R	50615	broad.mit.edu	37	chr16	27448929	27448929	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattccacttcatggccgaCgacattttcagtgtcaacat	10	13	7	11	2	3	0	3	0	0	0	4	2	4	0	2	1	1	1	2	1	2	5			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:27448929C>T	ENST00000337929.3	+	4	746	c.273C>T	c.(271-273)gaC>gaT	p.D91D	IL21R_ENST00000564089.1_Silent_p.D91D|IL21R_ENST00000395754.4_Silent_p.D91D|IL21R_ENST00000395755.1_Silent_p.D91D	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	91					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						TCATGGCCGACGACATTTTCA	0.572			T	BCL6	NHL								T	27448929	C	T	27448929	2	4	444	1	0	0	0	0	0	0	0	1	7729	535	19	1		1	IL21R	16	27448929	Silent	SNP	C	TCGA-E1-5319-01A-01D-1893-08		27448929	62905824	37	43092											
ABCC12	94160	broad.mit.edu	37	chr16	48162529	48162529	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggttctgcaatttctttggGgtacttttcctgctggcttc	3	19	10	9	0	2	0	0	0	2	0	4	0	3	0	1	4	3	5	1	4	2	7			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:48162529G>A	ENST00000311303.3	-	9	1701	c.1356C>T	c.(1354-1356)acC>acT	p.T452T	ABCC12_ENST00000448542.1_Silent_p.T452T|ABCC12_ENST00000416054.1_Silent_p.T452T	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	452						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				ATTTCTTTGGGGTACTTTTCC	0.507													A	48162529	G	A	48162529	2	1	444	1	0	0	0	0	0	0	0	1	52	1219	43	2		2	ABCC12	16	48162529	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	20713600	48162529	42192224	38	43093											
MMP15	4324	broad.mit.edu	37	chr16	58072238	58072238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgaaagccaacctgcggcGgcgtcggaagcgctacgccc	9	4	14	14	6	0	1	0	1	0	0	1	2	0	2	3	3	5	1	3	3	4	1	rs147283654		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:58072238G>A	ENST00000219271.3	+	3	1165	c.380G>A	c.(379-381)cGg>cAg	p.R127Q		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	127					protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AACCTGCGGCGGCGTCGGAAG	0.647													A	58072238	G	A	58072238	3	1	444	1	0	0	0	0	1	0	0	0	9729	1116	39	1	390	1	MMP15	16	58072238	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	9909709	58072238	32282515	39	43094											
PSKH1	5681	broad.mit.edu	37	chr16	67961376	67961376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccatgaagaacctgcaccGctccatatcccagaacctcc	12	7	5	17	1	0	3	0	1	0	2	4	3	4	3	7	0	3	2	7	0	4	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr16:67961376G>A	ENST00000291041.5	+	3	1276	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H		NM_006742.2	NP_006733.1	P11801	KPSH1_HUMAN	protein serine kinase H1	369						endoplasmic reticulum membrane|Golgi apparatus|microtubule organizing center|nuclear speck|plasma membrane	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(7)|pancreas(1)	12		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0044)|Epithelial(162;0.0197)|all cancers(182;0.128)		AACCTGCACCGCTCCATATCC	0.607													A	67961376	G	A	67961376	3	1	444	1	0	0	0	0	1	0	0	0	12749	1087	38	1	1112	1	PSKH1	16	67961376	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	9889138	67961376	22393377	40	43095											
TYK2	7297	broad.mit.edu	37	chr19	10479066	10479067	+	Frame_Shift_Del	DEL	AA	AA	-																															gcctgagcatcgaagagggcAaagagattgaagcaaggagg																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:10479066_10479067delAA	ENST00000525621.1	-	4	702_703	c.221_222delTT	c.(220-222)tttfs	p.F74fs	TYK2_ENST00000264818.6_Frame_Shift_Del_p.F74fs|TYK2_ENST00000524462.1_Intron|TYK2_ENST00000529370.1_Frame_Shift_Del_p.F74fs	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	74	FERM.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CGAAGAGGGCAAAGAGATTGAA	0.54													-	10479067	AA	-	10479066	7	5	444	1	0	1	0	1	0	0	0	0	16912	127	5	0	3429	0	TYK2	19	10479066	Frame_Shift_Del	DEL	AA	TCGA-E1-5319-01A-01D-1893-08		10479066	48649917	41	43096											
LGALS13	29124	broad.mit.edu	37	chr19	40097866	40097868	+	In_Frame_Del	DEL	AAG	AAG	-																															catttttcctcttgtagataAaggtcaatggcatacgcatt																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:40097866_40097868delAAG	ENST00000221797.4	+	4	352_354	c.307_309delAAG	c.(307-309)aagdel	p.K103del		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	103	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTGTAGATAAAGGTCAATGGCA	0.458													-	40097868	AAG	-	40097866	7	5	444	1	0	1	0	1	0	0	0	0	8799	15	1	0	321	0	LGALS13	19	40097866	In_Frame_Del	DEL	AAG	TCGA-E1-5319-01A-01D-1893-08	29618800	40097866	19031117	42	43097											
CIC	23152	broad.mit.edu	37	chr19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-																															cccccaagcctggtctacacTgtggccaccagcacaacccc																										TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr19:42796905_42796906delTG	ENST00000572681.2	+	15	6155_6156	c.6087_6088delTG	c.(6085-6090)actgtgfs	p.V2030fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1122fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1121fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"Mis, F, S"		oligodendroglioma								-	42796906	TG	-	42796905	7	5	444	1	0	1	0	1	0	0	0	0	3454	1567	55	0	3417	0	CIC	19	42796905	Frame_Shift_Del	DEL	TG	TCGA-E1-5319-01A-01D-1893-08	2699039	42796905	16332078	43	43098											
C20orf24	55969	broad.mit.edu	37	chr20	35236193	35236193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgtcatttggggagttttgCcattacgagggttcttggga	6	15	15	5	1	2	0	1	0	1	0	2	3	2	2	1	4	2	2	1	4	1	6			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:35236193C>T	ENST00000344795.3	+	2	408	c.190C>T	c.(190-192)Cca>Tca	p.P64S	C20orf24_ENST00000373852.5_Missense_Mutation_p.P64S|C20orf24_ENST00000342422.3_Missense_Mutation_p.P64S|TGIF2-C20orf24_ENST00000558530.1_Missense_Mutation_p.P90S	NM_001199534.1|NM_018840.4	NP_001186463.1|NP_061328.1			chromosome 20 open reading frame 24											breast(1)|kidney(1)|lung(2)	4	Breast(12;0.114)	Myeloproliferative disorder(115;0.00878)				GGGAGTTTTGCCATTACGAGG	0.393													T	35236193	C	T	35236193	3	4	444	1	0	0	0	0	1	0	0	0	2126	739	26	2	196	2	C20orf24	20	35236193	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		35236193	27789327	44	43099											
STAU1	6780	broad.mit.edu	37	chr20	47732387	47732387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaactcagacagcaacttTaagatgttcagcgcagccta	13	9	7	12	1	2	2	2	0	0	2	3	2	3	2	2	0	5	3	2	0	4	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr20:47732387T>C	ENST00000371828.3	-	13	1912	c.1425A>G	c.(1423-1425)ttA>ttG	p.L475L	STAU1_ENST00000371802.1_Silent_p.L475L|STAU1_ENST00000360426.4_Silent_p.L469L|STAU1_ENST00000340954.7_Silent_p.L469L|STAU1_ENST00000371856.2_Silent_p.L550L|STAU1_ENST00000371792.1_Silent_p.L467L|STAU1_ENST00000347458.5_Silent_p.L469L	NM_001037328.1|NM_004602.2	NP_001032405.1|NP_004593.2	O95793	STAU1_HUMAN	staufen double-stranded RNA binding protein 1	550						microtubule associated complex|rough endoplasmic reticulum|stress granule	double-stranded RNA binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|liver(1)|lung(6)|ovary(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	23			BRCA - Breast invasive adenocarcinoma(12;0.000644)|Colorectal(8;0.198)			ACAGCAACTTTAAGATGTTCA	0.512													C	47732387	T	C	47732387	2	2	444	1	0	0	0	0	0	0	0	1	15368	1751	61	3		3	STAU1	20	47732387	Silent	SNP	T	TCGA-E1-5319-01A-01D-1893-08	12496194	47732387	15293133	45	43100											
GGT1	2678	broad.mit.edu	37	chr22	25023484	25023484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactcacccgatctcctactAcaagcccgagttctacacgc	10	8	5	18	3	3	0	1	0	2	0	4	2	3	0	3	0	4	1	3	0	4	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:25023484A>G	ENST00000400382.1	+	12	1861	c.1106A>G	c.(1105-1107)tAc>tGc	p.Y369C	GGT1_ENST00000404223.1_Missense_Mutation_p.Y25C|GGT1_ENST00000466310.1_3'UTR|GGT1_ENST00000404920.1_Missense_Mutation_p.Y25C|GGT1_ENST00000404532.1_Missense_Mutation_p.Y25C|GGT1_ENST00000400380.1_Missense_Mutation_p.Y369C|GGT1_ENST00000400383.1_Missense_Mutation_p.Y369C|GGT1_ENST00000401885.1_Missense_Mutation_p.Y25C|GGT1_ENST00000248923.4_Missense_Mutation_p.Y369C|GGT1_ENST00000406383.2_Missense_Mutation_p.Y369C|GGT1_ENST00000403838.1_Missense_Mutation_p.Y25C			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	369					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity|protein binding			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	ATCTCCTACTACAAGCCCGAG	0.632													G	25023484	A	G	25023484	3	3	444	1	0	0	0	0	1	0	0	0	6417	391	14	3	1136	3	GGT1	22	25023484	Missense_Mutation	SNP	A	TCGA-E1-5319-01A-01D-1893-08		25023484	26281082	46	43101											
SSTR3	6753	broad.mit.edu	37	chr22	37603800	37603800	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccgaggaggcattctcagGttctgaggtcgtggacaccg	7	8	16	10	3	2	1	1	1	2	0	4	4	2	3	2	6	0	2	2	6	0	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chr22:37603800G>T	ENST00000328544.3	-	2	576	c.43C>A	c.(43-45)Cct>Act	p.P15T	SSTR3_ENST00000402501.1_Missense_Mutation_p.P15T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	15					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						GCATTCTCAGGTTCTGAGGTC	0.632													T	37603800	G	T	37603800	3	4	444	1	0	0	0	0	1	0	0	0	15295	1261	44	4	1217	4	SSTR3	22	37603800	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	12580316	37603800	13700766	47	43102											
FRMPD4	9758	broad.mit.edu	37	chrX	12735805	12735805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagagcagaccgagttcCcggcctccaagacccccgct	10	4	10	17	3	0	4	0	0	0	4	2	5	2	4	6	1	1	3	6	1	2	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:12735805C>T	ENST00000380682.1	+	16	3366	c.2860C>T	c.(2860-2862)Ccg>Tcg	p.P954S		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	954					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GACCGAGTTCCCGGCCTCCAA	0.607													T	12735805	C	T	12735805	3	4	444	1	0	0	0	0	1	0	0	0	6111	623	22	2	2922	2	FRMPD4	23	12735805	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08		12735805	142534755	48	43103											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	38079978	GCA	-	38079976	7	5	444	1	0	1	0	1	0	0	0	0	15260	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-E1-5319-01A-01D-1893-08	25344171	38079976	117190584	49	43104											
RPGR	6103	broad.mit.edu	37	chrX	38145181	38145192	+	In_Frame_Del	DEL	TCCCCTTCCACT	TCCCCTTCCACT	-																															ctccttcctccccttccaccTccccttccacttccccttcc																								rs144299434	byFrequency	TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:38145181_38145192delTCCCCTTCCACT	ENST00000378505.2	-	15	3236_3247	c.3060_3071delAGTGGAAGGGGA	c.(3058-3072)gaagtggaaggggag>gag	p.1020_1024EVEGE>E	RPGR_ENST00000342811.3_Intron|RPGR_ENST00000318842.7_Intron|TM4SF2_ENST00000465127.1_Intron|RPGR_ENST00000339363.3_Intron|RPGR_ENST00000338898.3_Intron|RPGR_ENST00000309513.3_Intron	NM_001034853.1	NP_001030025.1	Q92834	RPGR_HUMAN	retinitis pigmentosa GTPase regulator	810					intracellular protein transport|response to stimulus|visual perception	Golgi apparatus|photoreceptor outer segment	guanyl-nucleotide exchange factor activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	25						cccttccacctccccttccacttccccttcct	0.575													-	38145192	TCCCCTTCCACT	-	38145181	7	5	444	1	0	1	0	1	0	0	0	0	13639	1551	54	0	950	0	RPGR	23	38145181	In_Frame_Del	DEL	TCCCCTTCCACT	TCGA-E1-5319-01A-01D-1893-08	65205	38145181	117125379	50	43105											
MAGIX	79917	broad.mit.edu	37	chrX	49022446	49022446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agatcgcagcccagatcctgGagggccggaggtaacggggt	9	5	17	10	3	0	2	0	0	0	2	2	4	1	4	3	6	2	2	3	6	1	1			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:49022446G>A	ENST00000376338.3	+	4	615	c.536G>A	c.(535-537)gGa>gAa	p.G179E	MAGIX_ENST00000498742.1_3'UTR|MAGIX_ENST00000376339.1_Missense_Mutation_p.G174E|MAGIX_ENST00000412696.2_Missense_Mutation_p.G238E|MAGIX_ENST00000425661.2_Missense_Mutation_p.G162E			Q9H6Y5	MAGIX_HUMAN	MAGI family member, X-linked	238	PDZ.																CCAGATCCTGGAGGGCCGGAG	0.617													A	49022446	G	A	49022446	3	1	444	1	0	0	0	0	1	0	0	0	9268	1174	41	2	775	2	MAGIX	23	49022446	Missense_Mutation	SNP	G	TCGA-E1-5319-01A-01D-1893-08	10877265	49022446	106248114	51	43106											
DGKK	139189	broad.mit.edu	37	chrX	50213438	50213438	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtggctggttctggggtcggTtctgtgtacagttctgtggc	2	15	17	7	1	3	0	0	0	3	0	4	0	3	0	0	6	1	5	0	6	1	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:50213438T>C	ENST00000376025.2	-	0	299							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ctggggtcggTTCTGTGTACA	0.647													C	50213438	T	C	50213438	1	2	444	0	1	0	0	0	0	0	0	0	4511	1722	60	3		3	DGKK	23	50213438	RNA	SNP	T	TCGA-E1-5319-01A-01D-1893-08	1190992	50213438	105057122	52	43107											
PCDH19	57526	broad.mit.edu	37	chrX	99662276	99662276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgtcagtgatgagcacGgtaaaggacttggcactctg	9	12	12	8	2	2	2	1	2	1	0	3	3	2	3	0	3	1	3	0	3	2	4			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:99662276G>A	ENST00000373034.4	-	1	2995	c.1320C>T	c.(1318-1320)acC>acT	p.T440T	PCDH19_ENST00000420881.2_Silent_p.T440T|PCDH19_ENST00000255531.7_Silent_p.T440T	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	440	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.T440T(1)		breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						TGATGAGCACGGTAAAGGACT	0.577													A	99662276	G	A	99662276	2	1	444	1	0	0	0	0	0	0	0	1	11590	1103	39	1		1	PCDH19	23	99662276	Silent	SNP	G	TCGA-E1-5319-01A-01D-1893-08	49448838	99662276	55608284	53	43108											
COL4A5	1287	broad.mit.edu	37	chrX	107816843	107816843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatgtcatcactgccaggaCcaaagggtaatccaggatat	13	10	9	9	0	2	0	2	0	0	0	3	2	3	2	3	3	1	1	3	3	4	3			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:107816843C>T	ENST00000328300.6	+	9	749	c.505C>T	c.(505-507)Cca>Tca	p.P169S	COL4A5_ENST00000361603.2_Missense_Mutation_p.P169S	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	169	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACTGCCAGGACCAAAGGGTAA	0.363									Alport syndrome with Diffuse Leiomyomatosis				T	107816843	C	T	107816843	3	4	444	1	0	0	0	0	1	0	0	0	3725	507	18	2	539	2	COL4A5	23	107816843	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	8154567	107816843	47453717	54	43109											
SAGE1	55511	broad.mit.edu	37	chrX	134992597	134992597	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtcactcacaacatcCgtgaagagaagataaataac	17	7	7	10	1	2	3	2	1	0	2	3	4	3	3	1	0	3	1	1	0	6	2			TCGA-E1-5319-01A-01D-1893-08	TCGA-E1-5319-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d252a54e-0377-4b3e-8228-26108ea704fa	1121c5c3-e239-4edf-aa09-af5dbfabaaea	g.chrX:134992597C>T	ENST00000535938.1	+	16	2055	c.1888C>T	c.(1888-1890)Cgt>Tgt	p.R630C	SAGE1_ENST00000370709.3_Missense_Mutation_p.R630C|SAGE1_ENST00000537770.1_Missense_Mutation_p.R254C|SAGE1_ENST00000324447.3_Missense_Mutation_p.R630C	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	630										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TCACAACATCCGTGAAGAGAA	0.488													T	134992597	C	T	134992597	3	4	444	1	0	0	0	0	1	0	0	0	13900	652	23	1	1946	1	SAGE1	23	134992597	Missense_Mutation	SNP	C	TCGA-E1-5319-01A-01D-1893-08	27175754	134992597	20277963	55	43110											
DDI2	84301	broad.mit.edu	37	chr1	15956989	15956989	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatatgttgctggccaacccGcatgagctgtccttgctgaa	8	11	11	11	1	0	2	0	2	0	0	1	3	1	2	3	1	4	5	3	1	3	3			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:15956989G>A	ENST00000480945.1	+	3	609	c.438G>A	c.(436-438)ccG>ccA	p.P146P		NM_032341.4	NP_115717.3	Q5TDH0	DDI2_HUMAN	DNA-damage inducible 1 homolog 2 (S. cerevisiae)	146					proteolysis		aspartic-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|stomach(1)	17		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00327)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.03e-07)|COAD - Colon adenocarcinoma(227;4.48e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00773)|READ - Rectum adenocarcinoma(331;0.0656)		TGGCCAACCCGCATGAGCTGT	0.517													A	15956989	G	A	15956989	2	1	445	1	0	0	0	0	0	0	0	1	4363	1074	38	1		1	DDI2	1	15956989	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08		15956989	233293632	1	43111											
SESN2	83667	broad.mit.edu	37	chr1	28598956	28598956	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcgcatcggccatggctCatcaccaaggaacacatcca	11	6	9	15	2	2	0	2	0	0	0	4	1	3	1	3	4	1	2	3	4	2	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:28598956C>T	ENST00000253063.3	+	4	837	c.516C>T	c.(514-516)ctC>ctT	p.L172L		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	172					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GGCCATGGCTCATCACCAAGG	0.652													T	28598956	C	T	28598956	2	4	445	1	0	0	0	0	0	0	0	1	14218	813	29	2		2	SESN2	1	28598956	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	12641967	28598956	220651665	2	43112											
HRNR	388697	broad.mit.edu	37	chr1	152192510	152192510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccagatccagacccatgtCggctgtgtcccaaagattga	10	8	11	12	1	0	4	0	1	0	3	3	4	2	4	4	2	0	1	4	2	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:152192510C>T	ENST00000368801.2	-	3	1670	c.1595G>A	c.(1594-1596)cGa>cAa	p.R532Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	532					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCATGTCGGCTGTGTCC	0.567													T	152192510	C	T	152192510	3	4	445	1	0	0	0	0	1	0	0	0	7414	884	31	1	6961	1	HRNR	1	152192510	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	123593554	152192510	97058111	3	43113											
PEAR1	375033	broad.mit.edu	37	chr1	156880104	156880104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcacctgcaagaatggggGcacctgtctccctgagaatg	9	8	12	12	0	1	2	0	1	1	2	2	3	1	2	3	2	2	3	3	2	3	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:156880104G>A	ENST00000338302.3	+	15	1982	c.1757G>A	c.(1756-1758)gGc>gAc	p.G586D	PEAR1_ENST00000292357.7_Missense_Mutation_p.G586D			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	586	EGF-like 7.					integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					AAGAATGGGGGCACCTGTCTC	0.632											OREG0013890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	156880104	G	A	156880104	3	1	445	1	0	0	0	0	1	0	0	0	11788	1203	42	2	1807	2	PEAR1	1	156880104	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	4687594	156880104	92370517	4	43114											
OR2T1	26696	broad.mit.edu	37	chr1	248570073	248570073	+	Frame_Shift_Del	DEL	C	C	-																															gtgttttgatgctgctgattCctttctctgtagtccttgct																										TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr1:248570073delC	ENST00000366474.1	+	1	778	c.778delC	c.(778-780)cctfs	p.P260fs		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCTGCTGATTCCTTTCTCTGT	0.507													-	248570073	C	-	248570073	7	5	445	1	0	1	0	1	0	0	0	0	11092	855	30	0	780	0	OR2T1	1	248570073	Frame_Shift_Del	DEL	C	TCGA-E1-5322-01A-01D-1468-08	91689969	248570073	680548	5	43115											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	445	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		209113112	34086261	6	43116											
ANKZF1	55139	broad.mit.edu	37	chr2	220101063	220101063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacgctgctggagttgtgggGcatccctccaaggcctgact	6	9	14	12	1	0	1	0	1	0	0	2	3	2	2	3	4	1	4	3	4	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr2:220101063G>A	ENST00000323348.5	+	14	2251	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	ANKZF1_ENST00000409849.1_Missense_Mutation_p.A483T|ANKZF1_ENST00000410034.3_Missense_Mutation_p.A693T	NM_018089.2	NP_060559.2	Q9H8Y5	ANKZ1_HUMAN	ankyrin repeat and zinc finger domain containing 1	693						intracellular	zinc ion binding			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	23		Renal(207;0.0474)		Epithelial(149;1.2e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAGTTGTGGGGCATCCCTCCA	0.577													A	220101063	G	A	220101063	3	1	445	1	0	0	0	0	1	0	0	0	693	1203	42	2	2127	2	ANKZF1	2	220101063	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	10987951	220101063	23098310	7	43117											
OR5H6	79295	broad.mit.edu	37	chr3	97983515	97983515	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtaaccacagaatgtttTctcttggcaacaatggcata	13	12	7	9	0	1	1	0	0	1	1	2	1	1	1	1	2	2	4	1	2	5	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:97983515T>C	ENST00000383696.2	+	1	428	c.387T>C	c.(385-387)ttT>ttC	p.F129F	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005479.1	NP_001005479.1	Q8NGV6	OR5H6_HUMAN	olfactory receptor, family 5, subfamily H, member 6 (gene/pseudogene)	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAGAATGTTTTCTCTTGGCAA	0.368													C	97983515	T	C	97983515	2	2	445	1	0	0	0	0	0	0	0	1	11239	1780	62	3		3	OR5H6	3	97983515	Silent	SNP	T	TCGA-E1-5322-01A-01D-1468-08		97983515	100038915	8	43118											
GPR128	84873	broad.mit.edu	37	chr3	100352130	100352130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcaatccaatggcagtccGgttgtgcagtctctctctat	7	12	11	11	1	2	0	0	0	2	0	6	0	4	0	2	3	1	4	2	3	3	2	rs143646459		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:100352130G>A	ENST00000273352.3	+	4	624	c.356G>A	c.(355-357)cGg>cAg	p.R119Q		NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	119					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATGGCAGTCCGGTTGTGCAGT	0.313													A	100352130	G	A	100352130	3	1	445	1	0	0	0	0	1	0	0	0	6695	1116	39	1	370	1	GPR128	3	100352130	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	2368615	100352130	97670300	9	43119											
IFT122	55764	broad.mit.edu	37	chr3	129214370	129214370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaagttccatgaggccGccaaactgtacaagaggagt	13	6	14	8	1	0	2	0	1	0	1	1	4	1	4	3	4	2	2	3	4	4	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:129214370G>A	ENST00000296266.3	+	19	2473	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000347300.2_Missense_Mutation_p.A651T|IFT122_ENST00000348417.2_Missense_Mutation_p.A710T|IFT122_ENST00000431818.2_Missense_Mutation_p.A560T|IFT122_ENST00000440957.2_Missense_Mutation_p.A501T|IFT122_ENST00000349441.2_Missense_Mutation_p.A599T|IFT122_ENST00000507564.1_Missense_Mutation_p.A702T|IFT122_ENST00000504021.1_Missense_Mutation_p.A586T	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN	intraflagellar transport 122 homolog (Chlamydomonas)	710					camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						CCATGAGGCCGCCAAACTGTA	0.512													A	129214370	G	A	129214370	3	1	445	1	0	0	0	0	1	0	0	0	7613	1087	38	1	2355	1	IFT122	3	129214370	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	28862240	129214370	68808060	10	43120											
WDR49	151790	broad.mit.edu	37	chr3	167223186	167223186	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattttatatctaaatttatAtcttctgatggtctgacact	11	20	4	6	0	4	2	0	2	4	0	4	2	4	2	0	1	0	0	0	1	7	9			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr3:167223186A>T	ENST00000308378.3	-	13	2042	c.1737T>A	c.(1735-1737)gaT>gaA	p.D579E	WDR49_ENST00000453925.2_Missense_Mutation_p.D544E|WDR49_ENST00000479765.1_Intron|WDR49_ENST00000476376.1_Missense_Mutation_p.D404E	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	579										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						CTAAATTTATATCTTCTGATG	0.303													T	167223186	A	T	167223186	3	4	445	1	0	0	0	0	1	0	0	0	17404	446	16	5	368	5	WDR49	3	167223186	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	38008816	167223186	30799244	11	43121											
PDE6B	5158	broad.mit.edu	37	chr4	659049	659049	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctgtgcctccaggtcgcActtctcgtggctgctgagtt	3	14	11	13	2	1	1	0	1	1	0	5	1	3	1	3	2	2	4	3	2	0	3			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:659049A>G	ENST00000255622.6	+	19	2242	c.2199A>G	c.(2197-2199)gcA>gcG	p.A733A	PDE6B_ENST00000496514.1_Silent_p.A733A|PDE6B_ENST00000429163.2_Silent_p.A454A	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	733					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						TCCAGGTCGCACTTCTCGTGG	0.627													G	659049	A	G	659049	2	3	445	1	0	0	0	0	0	0	0	1	11722	146	6	3		3	PDE6B	4	659049	Silent	SNP	A	TCGA-E1-5322-01A-01D-1468-08		659049	190495227	12	43122											
SLIT2	9353	broad.mit.edu	37	chr4	20597443	20597443	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacggctatacgtgcatatgCcccgaaggttacaggtaaaa	14	8	10	9	3	0	0	0	0	0	0	0	1	0	0	2	3	5	4	2	3	8	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:20597443C>T	ENST00000504154.1	+	31	3558	c.3306C>T	c.(3304-3306)tgC>tgT	p.C1102C	SLIT2_ENST00000273739.5_Silent_p.C1115C|SLIT2_ENST00000503837.1_Silent_p.C1098C|SLIT2_ENST00000503823.1_Silent_p.C1094C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1102	EGF-like 5; calcium-binding (Potential).				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CGTGCATATGCCCCGAAGGTT	0.438													T	20597443	C	T	20597443	2	4	445	1	0	0	0	0	0	0	0	1	14834	747	26	2		2	SLIT2	4	20597443	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	19938394	20597443	170556833	13	43123											
LIMCH1	22998	broad.mit.edu	37	chr4	41646515	41646515	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgctctctccacactcAggagcaccagcatgtttgac	8	11	8	14	1	2	1	1	1	1	0	5	2	3	2	2	1	2	5	2	1	0	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr4:41646515A>C	ENST00000313860.7	+	10	1025		c.e10-1		LIMCH1_ENST00000508501.1_Splice_Site|LIMCH1_ENST00000509277.1_Splice_Site|LIMCH1_ENST00000512632.1_Splice_Site|LIMCH1_ENST00000381753.4_Splice_Site|LIMCH1_ENST00000503057.1_Splice_Site|LIMCH1_ENST00000396595.3_Splice_Site|LIMCH1_ENST00000514096.1_Splice_Site|LIMCH1_ENST00000512946.1_Splice_Site|LIMCH1_ENST00000511496.1_Splice_Site|LIMCH1_ENST00000513024.1_Splice_Site|LIMCH1_ENST00000512820.1_Splice_Site	NM_014988.2	NP_055803.2	Q9UPQ0	LIMC1_HUMAN	LIM and calponin homology domains 1						actomyosin structure organization		actin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|large_intestine(9)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(5)	41						CTCCACACTCAGGAGCACCAG	0.672											OREG0016169	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	41646515	A	C	41646515	5	2	445	1	0	0	0	0	0	0	1	0	8857	202	7	5	1036	5	LIMCH1	4	41646515	Splice_Site	SNP	A	TCGA-E1-5322-01A-01D-1468-08	21049072	41646515	149507761	14	43124											
PCDHA12	56137	broad.mit.edu	37	chr5	140256670	140256670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccaggtgagcgcgcGcgacgccggcgtgccgcctc	4	5	16	16	8	0	1	0	1	0	0	2	2	1	1	4	2	2	2	4	2	0	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr5:140256670G>A	ENST00000398631.2	+	1	1613	c.1613G>A	c.(1612-1614)cGc>cAc	p.R538H	PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.R538H(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGAGCGCGCGCGACGCCGGC	0.692													A	140256670	G	A	140256670	3	1	445	1	0	0	0	0	1	0	0	0	11598	1087	38	1	1615	1	PCDHA12	5	140256670	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		140256670	40658590	15	43125											
FLOT1	10211	broad.mit.edu	37	chr6	30708275	30708275	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacccccatctctctcacccGgatcccagcatctctcttgg	7	10	5	19	1	4	0	1	0	4	0	8	1	5	1	4	2	2	1	4	2	1	1	rs139987312	byFrequency	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:30708275G>A	ENST00000376389.3	-	7	788	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	FLOT1_ENST00000456573.2_Missense_Mutation_p.R142W|FLOT1_ENST00000470643.1_5'UTR	NM_005803.2	NP_005794.1	O75955	FLOT1_HUMAN	flotillin 1	190						centriolar satellite|endosome|integral to membrane|melanosome|membrane fraction				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|prostate(1)	13						TCTCTCACCCGGATCCCAGCA	0.532													A	30708275	G	A	30708275	3	1	445	1	0	0	0	0	1	0	0	0	5985	1115	39	1	743	1	FLOT1	6	30708275	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		30708275	140406792	16	43126											
FOXP4	116113	broad.mit.edu	37	chr6	41554783	41554783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggccttccagcagcagCtcctgcaaatgcaacagttg	10	8	10	13	0	0	0	0	0	0	0	2	0	2	0	3	1	7	7	3	1	2	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:41554783C>T	ENST00000373060.1	+	6	1005	c.547C>T	c.(547-549)Ctc>Ttc	p.L183F	FOXP4_ENST00000409208.1_Missense_Mutation_p.L183F|FOXP4_ENST00000307972.4_Missense_Mutation_p.L183F|FOXP4_ENST00000373057.3_Missense_Mutation_p.L181F|FOXP4_ENST00000373063.3_Missense_Mutation_p.L183F	NM_001012426.1|NM_001012427.1	NP_001012426.1|NP_001012427.1	Q8IVH2	FOXP4_HUMAN	forkhead box P4	183	Gln-rich.				embryonic foregut morphogenesis|heart development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	16	Ovarian(28;0.0327)|Colorectal(47;0.196)					CCAGCAGCAGCTCCTGCAAAT	0.662											OREG0004065	type=REGULATORY REGION|Gene=FOXP4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	41554783	C	T	41554783	3	4	445	1	0	0	0	0	1	0	0	0	6080	797	28	2	565	2	FOXP4	6	41554783	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	10846508	41554783	129560284	17	43127											
LAMA2	3908	broad.mit.edu	37	chr6	129475728	129475728	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctgagtttgaatatacGtggaaagtacattggagggg	14	11	13	3	1	1	2	0	2	1	0	1	4	1	4	0	4	2	2	0	4	6	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr6:129475728G>A	ENST00000421865.2	+	8	1155	c.1106G>A	c.(1105-1107)cGt>cAt	p.R369H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	369	Laminin EGF-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.R369L(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TTGAATATACGTGGAAAGTAC	0.388													A	129475728	G	A	129475728	3	1	445	1	0	0	0	0	1	0	0	0	8665	1145	40	1	1136	1	LAMA2	6	129475728	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	87920945	129475728	41639339	18	43128											
MACC1	346389	broad.mit.edu	37	chr7	20198861	20198861	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggatatatttgggtccatAaattccaattgaggtggttt	11	16	10	4	0	0	1	0	1	0	0	2	2	2	2	2	4	0	1	2	4	5	7			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:20198861A>G	ENST00000400331.5	-	5	1431	c.1123T>C	c.(1123-1125)Tat>Cat	p.Y375H	MACC1_ENST00000589011.1_Missense_Mutation_p.Y375H|MACC1_ENST00000332878.4_Missense_Mutation_p.Y375H	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	375					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTGGGTCCATAAATTCCAATT	0.398													G	20198861	A	G	20198861	3	3	445	1	0	0	0	0	1	0	0	0	9214	362	13	3	1447	3	MACC1	7	20198861	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08		20198861	138939802	19	43129											
TBX20	57057	broad.mit.edu	37	chr7	35242048	35242048	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttttagaagagtcatacAaatggcgtcatcacagcaga	15	10	8	8	1	3	3	3	0	0	3	3	3	3	3	0	1	2	1	0	1	4	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr7:35242048A>C	ENST00000408931.3	-	8	1864	c.1338T>G	c.(1336-1338)ttT>ttG	p.F446L		NM_001077653.2|NM_001166220.1	NP_001071121.1|NP_001159692.1	Q9UMR3	TBX20_HUMAN	T-box 20	446						nucleus	DNA binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(1)|lung(9)|prostate(1)|skin(1)|stomach(1)	18						AGAGTCATACAAATGGCGTCA	0.502													C	35242048	A	C	35242048	3	2	445	1	0	0	0	0	1	0	0	0	15756	127	5	5	8	5	TBX20	7	35242048	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	15043187	35242048	123896615	20	43130											
CSPP1	79848	broad.mit.edu	37	chr8	68028332	68028332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgcagtggactcagcagcGcccttggtgaaatggtgtct	7	10	14	10	2	2	1	1	1	1	0	2	2	2	2	1	3	3	2	1	3	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr8:68028332G>A	ENST00000262210.5	+	11	1487	c.1456G>A	c.(1456-1458)Gcc>Acc	p.A486T	CSPP1_ENST00000412460.1_Missense_Mutation_p.A192T	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	521	Pro-rich.					centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			ACTCAGCAGCGCCCTTGGTGA	0.443													A	68028332	G	A	68028332	3	1	445	1	0	0	0	0	1	0	0	0	3995	1087	38	1	1611	1	CSPP1	8	68028332	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		68028332	78335690	21	43131											
FAM120A	23196	broad.mit.edu	37	chr9	96214360	96214360	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacgccgacaactgcctgCaccgcctctacggcggcttc	6	7	11	17	5	1	0	0	0	1	0	2	2	1	1	4	3	4	2	4	3	2	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:96214360C>A	ENST00000277165.6	+	1	357	c.163C>A	c.(163-165)Cac>Aac	p.H55N	FAM120A_ENST00000375389.3_Missense_Mutation_p.H55N|FAM120A_ENST00000340893.4_Missense_Mutation_p.H55N|FAM120AOS_ENST00000375412.5_Intron|FAM120A_ENST00000333936.5_Missense_Mutation_p.H55N	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	55						cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAACTGCCTGCACCGCCTCTA	0.736													A	96214360	C	A	96214360	3	1	445	1	0	0	0	0	1	0	0	0	5460	710	25	4	165	4	FAM120A	9	96214360	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		96214360	44999071	22	43132											
SH2D3C	10044	broad.mit.edu	37	chr9	130507277	130507277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccatgggtctttggggCacttccgggacacagctggg	5	9	14	13	1	1	0	0	0	1	0	3	1	3	1	3	5	1	2	3	5	0	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr9:130507277C>T	ENST00000314830.8	-	7	1479	c.1366G>A	c.(1366-1368)Gcc>Acc	p.A456T	SH2D3C_ENST00000420366.1_Missense_Mutation_p.A298T|SH2D3C_ENST00000373276.3_Missense_Mutation_p.A388T|SH2D3C_ENST00000373274.3_Missense_Mutation_p.A296T|SH2D3C_ENST00000429553.1_Missense_Mutation_p.A102T|SH2D3C_ENST00000471939.1_5'UTR|SH2D3C_ENST00000373277.4_Missense_Mutation_p.A299T	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	456					JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GTCTTTGGGGCACTTCCGGGA	0.662													T	130507277	C	T	130507277	3	4	445	1	0	0	0	0	1	0	0	0	14327	710	25	2	1240	2	SH2D3C	9	130507277	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	34292917	130507277	10706154	23	43133											
RET	5979	broad.mit.edu	37	chr10	43609023	43609023	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcagcattgttgggggAcacgagcctggggagccccg	6	5	20	10	2	0	0	0	0	0	0	0	3	0	2	3	6	3	3	3	6	0	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:43609023A>G	ENST00000355710.3	+	10	2011	c.1779A>G	c.(1777-1779)ggA>ggG	p.G593G	RET_ENST00000340058.5_Silent_p.G593G	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	593			G -> E (in a colorectal cancer sample; somatic mutation).		homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity	p.G592_G607del(1)	CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGTTGGGGGACACGAGCCTG	0.642		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				G	43609023	A	G	43609023	2	3	445	1	0	0	0	0	0	0	0	1	13323	262	10	3		3	RET	10	43609023	Silent	SNP	A	TCGA-E1-5322-01A-01D-1468-08		43609023	91925724	24	43134											
KCNMA1	3778	broad.mit.edu	37	chr10	78669755	78669755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagtccaggacactgacgGcaaatgctgtcccacaggca	11	6	12	12	1	0	2	0	2	0	0	2	3	2	3	2	3	1	3	2	3	1	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:78669755G>A	ENST00000286627.5	-	24	3894	c.2942C>T	c.(2941-2943)gCc>gTc	p.A981V	KCNMA1_ENST00000404771.3_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.A1043V|KCNMA1_ENST00000372440.1_Missense_Mutation_p.A981V|KCNMA1_ENST00000286628.8_Missense_Mutation_p.A1039V|RP11-443A13.5_ENST00000426234.1_RNA|KCNMA1_ENST00000372443.1_Missense_Mutation_p.A1008V|KCNMA1_ENST00000404857.1_Missense_Mutation_p.A1022V|RP11-443A13.5_ENST00000600782.1_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.A1042V	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1039					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	GACACTGACGGCAAATGCTGT	0.512													A	78669755	G	A	78669755	3	1	445	1	0	0	0	0	1	0	0	0	8131	1203	42	2	639	2	KCNMA1	10	78669755	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	35060732	78669755	56864992	25	43135											
CPXM2	119587	broad.mit.edu	37	chr10	125526579	125526579	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtcgatcctctgcctcccaGagcagcgtgtttaaatcagg	8	11	10	12	2	2	1	1	0	1	1	5	2	4	1	3	1	3	2	3	1	2	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr10:125526579G>C	ENST00000241305.3	-	10	1543	c.1389C>G	c.(1387-1389)ctC>ctG	p.L463L	CPXM2_ENST00000368854.3_5'UTR	NM_198148.2	NP_937791.2	Q8N436	CPXM2_HUMAN	carboxypeptidase X (M14 family), member 2	463					cell adhesion|proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(13)|lung(15)|ovary(2)|prostate(2)|skin(3)	47		all_lung(145;0.174)|Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)|Lung NSC(174;0.233)		COAD - Colon adenocarcinoma(40;0.212)|Colorectal(40;0.237)		CTGCCTCCCAGAGCAGCGTGT	0.522													C	125526579	G	C	125526579	2	2	445	1	0	0	0	0	0	0	0	1	3869	929	33	4		4	CPXM2	10	125526579	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08	46856824	125526579	10008168	26	43136											
ABTB2	25841	broad.mit.edu	37	chr11	34176285	34176285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggatctccatggattctGttcctccgtagtacagatac	8	13	10	10	1	2	1	0	0	2	1	5	3	4	3	3	3	2	3	3	3	3	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:34176285G>A	ENST00000435224.2	-	15	3153	c.2729C>T	c.(2728-2730)aCa>aTa	p.T910I	ABTB2_ENST00000298992.2_Missense_Mutation_p.T724I	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	724							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				CATGGATTCTGTTCCTCCGTA	0.592													A	34176285	G	A	34176285	3	1	445	1	0	0	0	0	1	0	0	0	103	1377	48	2	360	2	ABTB2	11	34176285	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		34176285	100830231	27	43137											
CTTN	2017	broad.mit.edu	37	chr11	70261803	70261803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataccaggggaagactgAgaagcatgcctcccagaaag	15	5	12	9	0	0	4	0	2	0	3	1	6	1	5	3	2	3	1	3	2	5	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:70261803A>G	ENST00000301843.8	+	7	643	c.437A>G	c.(436-438)gAg>gGg	p.E146G	CTTN_ENST00000346329.3_Missense_Mutation_p.E146G|CTTN_ENST00000376561.3_Missense_Mutation_p.E146G	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin	146						cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		GGGAAGACTGAGAAGCATGCC	0.532													G	70261803	A	G	70261803	3	3	445	1	0	0	0	0	1	0	0	0	4077	304	11	3	455	3	CTTN	11	70261803	Missense_Mutation	SNP	A	TCGA-E1-5322-01A-01D-1468-08	36085518	70261803	64744713	28	43138											
CWF19L2	143884	broad.mit.edu	37	chr11	107299708	107299708	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcagagcgactccatgatGttaatctttcttcactgttc	9	15	6	11	1	4	2	2	1	2	1	6	3	5	2	1	0	1	2	1	0	1	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr11:107299708G>T	ENST00000282251.5	-	8	1277	c.1250C>A	c.(1249-1251)aCa>aAa	p.T417K	CWF19L2_ENST00000433523.1_Missense_Mutation_p.T417K	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	417							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		ACTCCATGATGTTAATCTTTC	0.418													T	107299708	G	T	107299708	3	4	445	1	0	0	0	0	1	0	0	0	4105	1377	48	4	1478	4	CWF19L2	11	107299708	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	37037905	107299708	27706808	29	43139											
LRIG3	121227	broad.mit.edu	37	chr12	59271321	59271321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccatccgtcatcgtctaaCgatggggctgtcatctgagg	7	10	12	12	3	4	1	2	1	2	0	6	2	5	1	2	3	1	1	2	3	1	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:59271321C>T	ENST00000320743.3	-	15	2683	c.2397G>A	c.(2395-2397)tcG>tcA	p.S799S	LRIG3_ENST00000379141.4_Silent_p.S739S	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	799						integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			CATCGTCTAACGATGGGGCTG	0.562			T	ROS1	NSCLC								T	59271321	C	T	59271321	2	4	445	1	0	0	0	0	0	0	0	1	9016	523	19	1		1	LRIG3	12	59271321	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08		59271321	74580574	30	43140											
NEDD1	121441	broad.mit.edu	37	chr12	97331097	97331097	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagagaagcacctgccacgtCcattgccacagttctaccac	11	7	7	16	1	1	1	0	0	1	1	2	2	2	1	5	0	4	2	5	0	2	3			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr12:97331097C>T	ENST00000266742.4	+	9	1382	c.1043C>T	c.(1042-1044)tCc>tTc	p.S348F	NEDD1_ENST00000557644.1_Missense_Mutation_p.S355F|NEDD1_ENST00000429527.2_Missense_Mutation_p.S348F|NEDD1_ENST00000457368.2_Missense_Mutation_p.S259F|NEDD1_ENST00000411739.2_Missense_Mutation_p.S259F	NM_152905.3	NP_690869.1	Q8NHV4	NEDD1_HUMAN	neural precursor cell expressed, developmentally down-regulated 1	348					cell division|G2/M transition of mitotic cell cycle|mitosis	cytosol				breast(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)	22						CCTGCCACGTCCATTGCCACA	0.428													T	97331097	C	T	97331097	3	4	445	1	0	0	0	0	1	0	0	0	10385	855	30	2	1094	2	NEDD1	12	97331097	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	38059776	97331097	36520798	31	43141											
NALCN	259232	broad.mit.edu	37	chr13	101763560	101763560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaatgatccgctcagcatgCgctgtcgggtgcaagctcta	9	9	11	12	3	2	1	1	1	1	0	4	1	3	1	1	1	4	5	1	1	3	1			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr13:101763560C>T	ENST00000251127.6	-	19	2291	c.2210G>A	c.(2209-2211)cGc>cAc	p.R737H		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	737						integral to membrane	sodium channel activity|voltage-gated ion channel activity			NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GCTCAGCATGCGCTGTCGGGT	0.468													T	101763560	C	T	101763560	3	4	445	1	0	0	0	0	1	0	0	0	10224	768	27	1	3110	1	NALCN	13	101763560	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		101763560	13406318	32	43142											
TNRC6A	27327	broad.mit.edu	37	chr16	24826581	24826581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caataggagatggctggccaCgtgccaaatcgcctaacggc	11	6	12	12	3	0	1	0	0	0	1	1	2	0	1	3	4	2	1	3	4	4	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:24826581C>T	ENST00000395799.3	+	19	4915	c.4786C>T	c.(4786-4788)Cgt>Tgt	p.R1596C	TNRC6A_ENST00000432286.2_Missense_Mutation_p.R74C|CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1547C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1596					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TGGCTGGCCACGTGCCAAATC	0.448													T	24826581	C	T	24826581	3	4	445	1	0	0	0	0	1	0	0	0	16440	536	19	1	4860	1	TNRC6A	16	24826581	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		24826581	65528172	33	43143											
FTO	79068	broad.mit.edu	37	chr16	53907734	53907734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccaacactgtgttttggCcggttcacaacctcggttta	8	12	8	13	2	1	0	1	0	0	0	2	0	1	0	4	3	2	3	4	3	3	5			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr16:53907734C>T	ENST00000471389.1	+	5	1154	c.932C>T	c.(931-933)gCc>gTc	p.A311V	FTO_ENST00000394647.3_Missense_Mutation_p.A15V	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	311	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TGTGTTTTGGCCGGTTCACAA	0.383													T	53907734	C	T	53907734	3	4	445	1	0	0	0	0	1	0	0	0	6138	739	26	2	950	2	FTO	16	53907734	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08	29081153	53907734	36447019	34	43144											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C|TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	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 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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622		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)			C	7578442	T	C	7578442	3	2	445	1	0	0	0	0	1	0	0	0	16482	1638	57	3	810	3	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-E1-5322-01A-01D-1468-08		7578442	73616768	35	43145											
GLP2R	9340	broad.mit.edu	37	chr17	9757822	9757822	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgttcaggtggatcgttAtgccttgctgtcaaccttgc	5	15	11	10	1	2	0	2	0	0	0	3	1	2	1	2	2	4	3	2	2	2	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:9757822A>T	ENST00000574745.1	+	0	406				GLP2R_ENST00000262441.5_Missense_Mutation_p.Y172F			O95838	GLP2R_HUMAN	glucagon-like peptide 2 receptor						G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of cell proliferation	integral to membrane|plasma membrane				endometrium(4)|large_intestine(7)|lung(22)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	44					Glucagon recombinant(DB00040)	GTGGATCGTTATGCCTTGCTG	0.552													T	9757822	A	T	9757822	1	4	445	1	0	0	0	0	0	0	0	0	6509	449	16	5		5	GLP2R	17	9757822	Translation_Start_Site	SNP	A	TCGA-E1-5322-01A-01D-1468-08	2179380	9757822	71437388	36	43146											
NEK8	284086	broad.mit.edu	37	chr17	27065006	27065006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcacgcgctctgggcgtctCatcctgtgggaggtgagcag	5	9	16	11	3	3	1	2	1	2	0	5	2	4	2	1	3	1	2	1	3	0	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:27065006C>T	ENST00000268766.6	+	7	1093	c.1059C>T	c.(1057-1059)ctC>ctT	p.L353L	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	353						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					CTGGGCGTCTCATCCTGTGGG	0.701													T	27065006	C	T	27065006	2	4	445	1	0	0	0	0	0	0	0	1	10406	813	29	2		2	NEK8	17	27065006	Silent	SNP	C	TCGA-E1-5322-01A-01D-1468-08	17307184	27065006	54130204	37	43147											
WNT9B	7484	broad.mit.edu	37	chr17	44953783	44953783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaatgaggccttgggccGcctagagctgtgggcccctg	6	7	14	14	1	0	2	0	1	0	1	0	2	0	2	6	3	1	1	6	3	2	2	rs149931425	by1000genomes	TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr17:44953783G>A	ENST00000393461.2	+	4	826	c.773G>A	c.(772-774)cGc>cAc	p.R258H	WNT9B_ENST00000290015.2_Missense_Mutation_p.R258H			O14905	WNT9B_HUMAN	wingless-type MMTV integration site family, member 9B	258					anterior/posterior pattern formation|axis specification|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway|cell-cell signaling|cellular response to retinoic acid|collecting duct development|cornea development in camera-type eye|endoderm development|establishment of planar polarity involved in nephron morphogenesis|kidney rudiment formation|male genitalia development|mesonephric duct formation|metanephric tubule development|neuron differentiation|palate development|regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|uterus morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway|Wnt receptor signaling pathway, planar cell polarity pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|G-protein-coupled receptor binding			large_intestine(2)|lung(8)	10			BRCA - Breast invasive adenocarcinoma(9;0.0257)			GCCTTGGGCCGCCTAGAGCTG	0.642													A	44953783	G	A	44953783	3	1	445	1	0	0	0	0	1	0	0	0	17501	1087	38	1	787	1	WNT9B	17	44953783	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08	17888777	44953783	36241427	38	43148											
NLRP12	91662	broad.mit.edu	37	chr19	54314485	54314485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcccctaggcgcgcattgCggtcttccatgagccggaat	7	10	11	13	4	1	1	0	1	1	0	3	2	3	2	4	3	2	1	4	3	2	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr19:54314485C>T	ENST00000324134.6	-	3	596	c.428G>A	c.(427-429)cGc>cAc	p.R143H	NLRP12_ENST00000354278.3_Missense_Mutation_p.R143H|NLRP12_ENST00000391772.1_Missense_Mutation_p.R143H|NLRP12_ENST00000391775.3_Missense_Mutation_p.R143H|NLRP12_ENST00000535162.1_Missense_Mutation_p.R143H|NLRP12_ENST00000351894.4_Missense_Mutation_p.R143H|NLRP12_ENST00000391773.1_Missense_Mutation_p.R143H|NLRP12_ENST00000345770.5_Missense_Mutation_p.R143H	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	143					negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		GCGCGCATTGCGGTCTTCCAT	0.567													T	54314485	C	T	54314485	3	4	445	1	0	0	0	0	1	0	0	0	10550	768	27	1	2885	1	NLRP12	19	54314485	Missense_Mutation	SNP	C	TCGA-E1-5322-01A-01D-1468-08		54314485	4814498	39	43149											
IDH3B	3420	broad.mit.edu	37	chr20	2640677	2640677	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagaaagcagcctcaccGtctcaaagactgcgtattct	12	8	10	11	2	3	2	2	0	2	2	4	3	3	2	2	1	3	2	2	1	3	2			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chr20:2640677G>A	ENST00000380843.4	-	9	944	c.914C>T	c.(913-915)aCg>aTg	p.T305M	IDH3B_ENST00000488299.1_5'UTR|IDH3B_ENST00000380851.5_Splice_Site_p.T305M	NM_006899.3	NP_008830.2	O43837	IDH3B_HUMAN	isocitrate dehydrogenase 3 (NAD+) beta	305					isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	electron carrier activity|isocitrate dehydrogenase (NAD+) activity|magnesium ion binding|NAD binding			breast(1)|endometrium(3)|kidney(2)|lung(7)|prostate(1)	14					NADH(DB00157)	CAGCCTCACCGTCTCAAAGAC	0.537													A	2640677	G	A	2640677	5	1	445	1	0	0	0	0	0	0	1	0	7555	1159	40	1	344	1	IDH3B	20	2640677	Splice_Site	SNP	G	TCGA-E1-5322-01A-01D-1468-08		2640677	60384843	40	43150											
PDHA1	5160	broad.mit.edu	37	chrX	19369427	19369427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgtgtgggcctggaggccgGcatcaaccccacagaccatc	8	6	12	15	1	1	1	1	0	0	1	2	2	1	2	5	4	1	1	5	4	1	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:19369427G>A	ENST00000379806.5	+	5	579	c.434G>A	c.(433-435)gGc>gAc	p.G145D	PDHA1_ENST00000540249.1_Missense_Mutation_p.G107D|PDHA1_ENST00000379805.3_Missense_Mutation_p.G107D|PDHA1_ENST00000545074.1_Missense_Mutation_p.G114D|PDHA1_ENST00000422285.2_Missense_Mutation_p.G107D	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	107					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	CTGGAGGCCGGCATCAACCCC	0.507													A	19369427	G	A	19369427	3	1	445	1	0	0	0	0	1	0	0	0	11740	1203	42	2	473	2	PDHA1	23	19369427	Missense_Mutation	SNP	G	TCGA-E1-5322-01A-01D-1468-08		19369427	135901133	41	43151											
ATRX	546	broad.mit.edu	37	chrX	76944356	76944356	+	Frame_Shift_Del	DEL	T	T	-																															gggtgtctataaatggaatcTttttgaaaatgattgacctg																										TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:76944356delT	ENST00000373344.5	-	7	763	c.549delA	c.(547-549)aaafs	p.K183fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K145fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	183	ADD.		Missing (in ATRX).		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)	AAATGGAATCTTTTTGAAAAT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76944356	T	-	76944356	7	5	445	1	0	1	0	1	0	0	0	0	1213	1606	56	0	7045	0	ATRX	23	76944356	Frame_Shift_Del	DEL	T	TCGA-E1-5322-01A-01D-1468-08	57574929	76944356	78326204	42	43152											
RGAG1	57529	broad.mit.edu	37	chrX	109695813	109695813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggagctctgtccatgccGcaaatgacagacacagcctc	10	8	9	14	1	2	2	0	1	2	1	4	3	3	3	3	1	3	2	3	1	1	0			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:109695813G>A	ENST00000465301.2	+	3	2214	c.1968G>A	c.(1966-1968)ccG>ccA	p.P656P	RGAG1_ENST00000540313.1_Silent_p.P656P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	656										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TGTCCATGCCGCAAATGACAG	0.502													A	109695813	G	A	109695813	2	1	445	1	0	0	0	0	0	0	0	1	13362	1074	38	1		1	RGAG1	23	109695813	Silent	SNP	G	TCGA-E1-5322-01A-01D-1468-08	32751457	109695813	45574747	43	43153											
MAP7D3	79649	broad.mit.edu	37	chrX	135323365	135323365	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagagcctccccatgaccaTcttttttgctgataatcatc	9	13	6	13	0	2	3	1	2	1	1	4	3	3	3	4	0	2	2	4	0	1	4			TCGA-E1-5322-01A-01D-1468-08	TCGA-E1-5322-10A-01D-1468-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	52b650cf-fb99-462b-81a2-ce202f5c2eca	9b8501d7-1ba6-42ee-975c-dd1830d5a3a6	g.chrX:135323365T>A	ENST00000316077.9	-	5	709	c.489A>T	c.(487-489)agA>agT	p.R163S	MAP7D3_ENST00000370663.5_Missense_Mutation_p.R145S|MAP7D3_ENST00000370661.1_Missense_Mutation_p.R163S	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	163						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CCCATGACCATCTTTTTTGCT	0.323													A	135323365	T	A	135323365	3	1	445	1	0	0	0	0	1	0	0	0	9344	1432	50	5	2197	5	MAP7D3	23	135323365	Missense_Mutation	SNP	T	TCGA-E1-5322-01A-01D-1468-08	25627552	135323365	19947195	44	43154											
TMCO4	255104	broad.mit.edu	37	chr1	20072024	20072024	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcctcctggtcctcaCggtatttgccagaagcgagc	6	11	11	13	2	2	1	1	0	1	1	5	2	5	1	4	3	3	1	4	3	2	2	rs145825608	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:20072024C>T	ENST00000294543.6	-	10	1119		c.e10+1		TMCO4_ENST00000375122.2_Intron|TMCO4_ENST00000375127.1_Splice_Site	NM_181719.4	NP_859070.3	Q5TGY1	TMCO4_HUMAN	transmembrane and coiled-coil domains 4							integral to membrane				biliary_tract(1)|breast(2)|endometrium(2)|kidney(1)|lung(11)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00708)|COAD - Colon adenocarcinoma(152;2.28e-05)|BRCA - Breast invasive adenocarcinoma(304;5.8e-05)|Kidney(64;0.000367)|GBM - Glioblastoma multiforme(114;0.000377)|KIRC - Kidney renal clear cell carcinoma(64;0.00459)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0862)|Lung(427;0.223)		CTGGTCCTCACGGTATTTGCC	0.612													T	20072024	C	T	20072024	5	4	446	1	0	0	0	0	0	0	1	0	16098	550	19	1	1054	1	TMCO4	1	20072024	Splice_Site	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		20072024	229178597	1	43155											
LAPTM5	7805	broad.mit.edu	37	chr1	31211793	31211793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgccccagactcaccatgtgGttcatggacttgaagttgag	9	11	11	10	0	2	3	2	2	0	1	2	4	2	4	3	2	1	2	3	2	1	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:31211793G>T	ENST00000294507.3	-	5	578	c.504C>A	c.(502-504)aaC>aaA	p.N168K		NM_006762.2	NP_006753.1	Q13571	LAPM5_HUMAN	lysosomal protein transmembrane 5	168					transport	integral to plasma membrane|lysosomal membrane				large_intestine(2)|lung(7)|skin(1)	10		Colorectal(325;0.0199)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0966)|Medulloblastoma(700;0.151)|Ovarian(437;0.192)		STAD - Stomach adenocarcinoma(196;0.0196)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCATGTGGTTCATGGACT	0.552													T	31211793	G	T	31211793	3	4	446	1	0	0	0	0	1	0	0	0	8685	1252	44	4	300	4	LAPTM5	1	31211793	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	11139769	31211793	218038828	2	43156											
IPO13	9670	broad.mit.edu	37	chr1	44415582	44415582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaggcctggtgcggaccaGcctggcggtggaatgtgggg	7	6	19	9	2	0	0	0	0	0	0	0	2	0	2	3	8	2	0	3	8	2	0			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:44415582G>A	ENST00000372343.3	+	2	1240	c.578G>A	c.(577-579)aGc>aAc	p.S193N		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	193					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				GTGCGGACCAGCCTGGCGGTG	0.632													A	44415582	G	A	44415582	3	1	446	1	0	0	0	0	1	0	0	0	7852	971	34	2	584	2	IPO13	1	44415582	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	13203789	44415582	204835039	3	43157											
DNASE2B	58511	broad.mit.edu	37	chr1	84880391	84880391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaagatcatgccaagtggtGtatttcccaaaagggcacca	13	9	9	10	0	2	1	2	0	0	1	3	1	3	1	3	2	1	2	3	2	5	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:84880391G>A	ENST00000370665.3	+	6	959	c.926G>A	c.(925-927)tGt>tAt	p.C309Y	DNASE2B_ENST00000370662.3_Missense_Mutation_p.C101Y	NM_021233.2	NP_067056.2	Q8WZ79	DNS2B_HUMAN	deoxyribonuclease II beta	309					DNA metabolic process	lysosome	deoxyribonuclease II activity			endometrium(1)|lung(4)|skin(1)	6				all cancers(265;0.00303)|Epithelial(280;0.0112)|OV - Ovarian serous cystadenocarcinoma(397;0.0808)		GCCAAGTGGTGTATTTCCCAA	0.413													A	84880391	G	A	84880391	3	1	446	1	0	0	0	0	1	0	0	0	4704	1377	48	2	948	2	DNASE2B	1	84880391	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	40464809	84880391	164370230	4	43158											
OR10R2	343406	broad.mit.edu	37	chr1	158450293	158450293	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagtcattcttctggcttGtaccaacacagatgttaacg	11	12	8	10	1	3	1	1	0	2	1	3	1	3	1	1	1	4	4	1	1	3	5			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158450293G>T	ENST00000368152.1	+	1	626	c.626G>T	c.(625-627)tGt>tTt	p.C209F	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	209					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTTCTGGCTTGTACCAACACA	0.378													T	158450293	G	T	158450293	3	4	446	1	0	0	0	0	1	0	0	0	10993	1377	48	4	628	4	OR10R2	1	158450293	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	73569902	158450293	90800328	5	43159											
OR6Y1	391112	broad.mit.edu	37	chr1	158517709	158517709	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctcaagaagaagtacatggGcttatgcagctgcccatcac	12	8	10	11	0	2	2	2	0	0	2	2	2	2	2	1	1	4	5	1	1	5	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:158517709G>C	ENST00000302617.3	-	1	186	c.187C>G	c.(187-189)Ccc>Gcc	p.P63A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	63					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					AAGTACATGGGCTTATGCAGC	0.473													C	158517709	G	C	158517709	3	2	446	1	0	0	0	0	1	0	0	0	11289	1203	42	4	792	4	OR6Y1	1	158517709	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	67416	158517709	90732912	6	43160											
LEMD1	93273	broad.mit.edu	37	chr1	205350789	205350789	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttgctcctaaattacttaAccaaacagcgacttattttc	12	15	3	11	1	0	0	0	0	0	0	2	1	1	0	2	0	5	1	2	0	6	7			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:205350789A>T	ENST00000367153.4	-	6	645	c.543T>A	c.(541-543)ggT>ggA	p.G181G	LEMD1_ENST00000367154.1_3'UTR|LEMD1-AS1_ENST00000447832.1_RNA|LEMD1_ENST00000367149.3_3'UTR|LEMD1_ENST00000476884.1_5'UTR|LEMD1_ENST00000367152.1_Silent_p.G140G|LEMD1_ENST00000367151.2_Silent_p.G140G|LEMD1_ENST00000391936.2_3'UTR	NM_001199050.1	NP_001185979.1	Q68G75	LEMD1_HUMAN	LEM domain containing 1	181						integral to membrane|nuclear envelope				breast(1)|lung(2)	3	Breast(84;0.247)		BRCA - Breast invasive adenocarcinoma(75;0.0938)			AAATTACTTAACCAAACAGCG	0.488													T	205350789	A	T	205350789	2	4	446	1	0	0	0	0	0	0	0	1	8778	58	2	5		5	LEMD1	1	205350789	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	46833080	205350789	43899832	7	43161											
RYR2	6262	broad.mit.edu	37	chr1	237758859	237758859	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgagccccgggcaaggaCgcaacaataatggactggag	13	4	14	10	2	0	1	0	1	0	0	0	4	0	4	2	4	2	3	2	4	4	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr1:237758859C>T	ENST00000366574.2	+	34	4815	c.4498C>T	c.(4498-4500)Cgc>Tgc	p.R1500C	RYR2_ENST00000360064.6_Missense_Mutation_p.R1498C|RYR2_ENST00000542537.1_Missense_Mutation_p.R1484C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1500	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CGGGCAAGGACGCAACAATAA	0.483													T	237758859	C	T	237758859	3	4	446	1	0	0	0	0	1	0	0	0	13860	536	19	1	4632	1	RYR2	1	237758859	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	32408070	237758859	11491762	8	43162											
SNTG2	54221	broad.mit.edu	37	chr2	1204826	1204826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcccatagctaaggaccCgaggtatgagaagcgctggc	10	6	13	12	3	0	1	0	1	0	1	1	4	0	2	2	3	2	3	2	3	4	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:1204826C>T	ENST00000308624.5	+	9	758	c.629C>T	c.(628-630)cCg>cTg	p.P210L	SNTG2_ENST00000407292.1_Missense_Mutation_p.P83L|SNTG2_ENST00000467759.1_3'UTR	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	210					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding	p.P210Q(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GCTAAGGACCCGAGGTATGAG	0.567													T	1204826	C	T	1204826	3	4	446	1	0	0	0	0	1	0	0	0	14969	652	23	1	663	1	SNTG2	2	1204826	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		1204826	241994547	9	43163											
XDH	7498	broad.mit.edu	37	chr2	31589808	31589808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccttttggaacagcaatGgtgcagtgagtctccaggta	9	11	12	9	1	1	1	0	1	1	0	3	2	1	2	2	3	3	3	2	3	3	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:31589808G>A	ENST00000379416.3	-	21	2298	c.2250C>T	c.(2248-2250)acC>acT	p.T750T		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	750					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	GAACAGCAATGGTGCAGTGAG	0.542													A	31589808	G	A	31589808	2	1	446	1	0	0	0	0	0	0	0	1	17528	1335	47	2		2	XDH	2	31589808	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	30384982	31589808	211609565	10	43164											
LRP1B	53353	broad.mit.edu	37	chr2	141747212	141747212	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcatttaaactgatcatcagGacagctatgattgactggga	13	11	10	7	0	2	3	2	3	0	0	2	5	2	5	0	2	2	2	0	2	3	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:141747212G>C	ENST00000389484.3	-	17	3630	c.2659C>G	c.(2659-2661)Cct>Gct	p.P887A		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	887	LDL-receptor class A 4.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TGATCATCAGGACAGCTATGA	0.383										TSP Lung(27;0.18)			C	141747212	G	C	141747212	3	2	446	1	0	0	0	0	1	0	0	0	9025	1174	41	4	11440	4	LRP1B	2	141747212	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	110157404	141747212	101452161	11	43165											
COL6A3	1293	broad.mit.edu	37	chr2	238289918	238289918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccaggggcttcattttccGcacagcggttatgacttccc	6	12	10	13	2	1	1	1	1	0	0	4	1	4	1	3	3	1	3	3	3	1	5			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:238289918G>A	ENST00000295550.4	-	5	1989	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	COL6A3_ENST00000392004.3_Missense_Mutation_p.R307W|COL6A3_ENST00000392003.2_Missense_Mutation_p.R106W|COL6A3_ENST00000346358.4_Missense_Mutation_p.R513W|COL6A3_ENST00000472056.1_Missense_Mutation_p.R106W|COL6A3_ENST00000347401.3_Missense_Mutation_p.R312W|COL6A3_ENST00000409809.1_Missense_Mutation_p.R307W|COL6A3_ENST00000353578.4_Missense_Mutation_p.R307W	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	513	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCATTTTCCGCACAGCGGTT	0.527													A	238289918	G	A	238289918	3	1	446	1	0	0	0	0	1	0	0	0	3732	1086	38	1	8203	1	COL6A3	2	238289918	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	96542706	238289918	4909455	12	43166											
FARP2	9855	broad.mit.edu	37	chr2	242433520	242433520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctcagggctggaggggatgGtcagggggaaggaggaatga	10	5	21	5	0	2	1	2	1	0	0	2	6	2	6	1	9	0	1	1	9	2	0			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr2:242433520G>C	ENST00000264042.3	+	27	3315	c.3145G>C	c.(3145-3147)Gtc>Ctc	p.V1049L	STK25_ENST00000316586.4_3'UTR	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	1049					axon guidance|neuron remodeling|Rac protein signal transduction|regulation of Rho protein signal transduction	cytoskeleton|cytosol|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		GGAGGGGATGGTCAGGGGGAA	0.617													C	242433520	G	C	242433520	3	2	446	1	0	0	0	0	1	0	0	0	5726	1261	44	4	3247	4	FARP2	2	242433520	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	4143602	242433520	765853	13	43167											
EXOG	9941	broad.mit.edu	37	chr3	38565450	38565450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttataaggtaatcctggcccGcagaagctcagtatctaccg	11	10	9	11	2	2	1	1	0	1	1	3	1	3	1	3	2	2	4	3	2	6	5			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:38565450G>A	ENST00000287675.5	+	6	800	c.704G>A	c.(703-705)cGc>cAc	p.R235H	EXOG_ENST00000422077.2_Missense_Mutation_p.R185H|EXOG_ENST00000358249.2_Intron	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	235						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						ATCCTGGCCCGCAGAAGCTCA	0.507													A	38565450	G	A	38565450	3	1	446	1	0	0	0	0	1	0	0	0	5353	1087	38	1	726	1	EXOG	3	38565450	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		38565450	159456980	14	43168											
IQCF2	389123	broad.mit.edu	37	chr3	51897231	51897231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctttggtccgtatgtggCgtgtccgctggcgatactgc	4	13	14	10	4	1	0	0	0	1	0	3	1	3	0	2	3	2	2	2	3	2	3	rs140755124		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:51897231C>T	ENST00000333127.3	+	3	369	c.340C>T	c.(340-342)Cgt>Tgt	p.R114C	IQCF2_ENST00000429548.1_3'UTR	NM_203424.1	NP_982248.1	Q8IXL9	IQCF2_HUMAN	IQ motif containing F2	114	IQ 2.									endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		CCGTATGTGGCGTGTCCGCTG	0.597													T	51897231	C	T	51897231	3	4	446	1	0	0	0	0	1	0	0	0	7866	768	27	1	350	1	IQCF2	3	51897231	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	13331781	51897231	146125199	15	43169											
OR5H15	403274	broad.mit.edu	37	chr3	97888411	97888411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgttaaatcctatcatcTacagtctgagaaataagcaa	15	13	5	8	0	3	1	1	1	2	1	4	2	4	1	1	0	2	2	1	0	7	5			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:97888411T>C	ENST00000356526.2	+	1	868	c.868T>C	c.(868-870)Tac>Cac	p.Y290H		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TCCTATCATCTACAGTCTGAG	0.333													C	97888411	T	C	97888411	3	2	446	1	0	0	0	0	1	0	0	0	11237	1522	53	3	870	3	OR5H15	3	97888411	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	45991180	97888411	100134019	16	43170											
PIK3CA	5290	broad.mit.edu	37	chr3	178916614	178916614	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgcaaagaatcagaacaAtgcctccacgaccatcatca	16	7	5	13	1	3	2	3	0	0	2	4	3	4	2	3	0	3	1	3	0	4	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr3:178916614A>G	ENST00000263967.3	+	2	158	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1V(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATCAGAACAATGCCTCCACG	0.378		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178916614	A	G	178916614	1	3	446	1	0	0	0	0	0	0	0	0	11990	101	4	3		3	PIK3CA	3	178916614	Translation_Start_Site	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	81028203	178916614	19105816	17	43171											
KIT	3815	broad.mit.edu	37	chr4	55593606	55593606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgtatgaagtacagtggAaggttgttgaggagataaat	14	11	13	3	0	0	3	0	2	0	1	0	5	0	4	1	3	1	4	1	3	6	5	rs121913511		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:55593606A>G	ENST00000288135.5	+	11	1769	c.1672A>G	c.(1672-1674)Aag>Gag	p.K558E		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	558			Missing (in GIST; somatic mutation).		male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	p.W557_K558del(120)|p.W557_V559>F(18)|p.W557_E561del(17)|p.W557_V559>C(9)|p.Y553_K558>(8)|p.E554_K558del(8)|p.K550_K558del(7)|p.W557_V559del(7)|p.Q556_V560del(6)|p.K558_V560del(5)|p.Y553_K558del(4)|p.K558_V559del(3)|p.W557_V560>C(3)|p.Y553_T574>S(3)|p.K558_E562del(3)|p.V555_K558del(3)|p.V555_I571del(3)|p.M552_W557del(3)|p.V555_V560del(3)|p.V555_P573del(3)|p.Q556_V560>H(3)|p.V555_V559del(3)|p.W557_K558>CP(3)|p.W557_K558>E(2)|p.Q556_L576del(2)|p.K558_N564del(2)|p.K558_V559>SS(2)|p.K558E(2)|p.W557_Q575del(2)|p.K550fs*6(2)|p.Q556_K558del(2)|p.K550_V559del(2)|p.V555_E562del(2)|p.W557_V560del(2)|p.Q556_V559del(2)|p.W557_P573>S(2)|p.W557_K558>FP(1)|p.V555_G565del(1)|p.Q556_N566>SNNLQLY(1)|p.W557_K558>C(1)|p.P551_K558del(1)|p.Q556_V559>H(1)|p.M552_E561>K(1)|p.V555_I563del(1)|p.W557_K558>S(1)|p.Q556_K558>HPCR(1)|p.E554_I571del(1)|p.K558_Q575del(1)|p.Q556_V560>F(1)|p.V555_Y570del(1)|p.M552_T574>TESA(1)|p.W557_K558>SS(1)|p.Q556_D572>PS(1)|p.K558*(1)|p.Q556_D572del(1)|p.K558_G565del(1)|p.W557_E562del(1)|p.V555_N566>D(1)|p.V555_V560>V(1)|p.Q556_V560>HNLQLY(1)|p.W557_K558>CT(1)|p.M552_K558del(1)|p.Q556_E561del(1)|p.Q556_K558>H(1)|p.Q556_E561>HH(1)|p.W557_V560>F(1)|p.W557_I571del(1)|p.Q556_K558>R(1)|p.E554_N564del(1)|p.Q556_V560>TTF(1)|p.Q556_D572>H(1)|p.W557_V559>I(1)|p.M552_D572del(1)|p.Y553_V559>E(1)|p.Q556_T574del(1)|p.P551_V559del>L(1)|p.Q556_P573del(1)|p.E554_D572del(1)|p.Q556_V559>HT(1)|p.E554_E562del(1)|p.Y553_V559del(1)|p.K558_D572del(1)		NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGTACAGTGGAAGGTTGTTGA	0.383		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				G	55593606	A	G	55593606	3	3	446	1	0	0	0	0	1	0	0	0	8387	247	9	3	1714	3	KIT	4	55593606	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08		55593606	135560670	18	43172											
POLR2B	5431	broad.mit.edu	37	chr4	57871589	57871589	+	Frame_Shift_Del	DEL	A	A	-																															tcagtgatttttgtgagaccAaaaaagcctatttcttgggg																										TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr4:57871589delA	ENST00000381227.1	+	9	1491	c.1078delA	c.(1078-1080)aaafs	p.K361fs	POLR2B_ENST00000431623.2_Frame_Shift_Del_p.K286fs|POLR2B_ENST00000441246.2_Frame_Shift_Del_p.K354fs|POLR2B_ENST00000314595.5_Frame_Shift_Del_p.K361fs			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	361					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					TTGTGAGACCAAAAAAGCCTA	0.313													-	57871589	A	-	57871589	7	5	446	1	0	1	0	1	0	0	0	0	12292	131	5	0	1108	0	POLR2B	4	57871589	Frame_Shift_Del	DEL	A	TCGA-E1-A7YD-01A-11D-A34A-08	2277983	57871589	133282687	19	43173											
TRIM36	55521	broad.mit.edu	37	chr5	114469804	114469804	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatcaaggcattgttataAactttgctctgttcctcatt	9	19	5	8	0	3	0	2	0	1	0	4	0	4	0	1	1	2	4	1	1	5	8			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:114469804A>G	ENST00000513154.1	-	8	1577	c.1251T>C	c.(1249-1251)gtT>gtC	p.V417V	TRIM36_ENST00000282369.3_Silent_p.V429V|TRIM36_ENST00000514154.1_Silent_p.V274V			Q9NQ86	TRI36_HUMAN	tripartite motif containing 36	429	Fibronectin type-III.					acrosomal vesicle|cytoskeleton	ligase activity|zinc ion binding			breast(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	37		all_cancers(142;0.00133)|all_epithelial(76;2.41e-05)|Prostate(80;0.00955)|Ovarian(225;0.0443)|Breast(839;0.195)		OV - Ovarian serous cystadenocarcinoma(64;3.62e-08)|Epithelial(69;7.69e-08)|all cancers(49;9.33e-06)		CATTGTTATAAACTTTGCTCT	0.328													G	114469804	A	G	114469804	2	3	446	1	0	0	0	0	0	0	0	1	16611	1	1	3		3	TRIM36	5	114469804	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08		114469804	66445456	20	43174											
AFF4	27125	broad.mit.edu	37	chr5	132216761	132216761	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcagttcaagatatcAacttggcatcctggcgaagc	10	12	10	9	1	3	1	3	0	0	1	4	2	4	1	1	2	2	3	1	2	4	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:132216761A>T	ENST00000265343.5	-	21	3861	c.3482T>A	c.(3481-3483)tTg>tAg	p.L1161*		NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	1161					transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TCAAGATATCAACTTGGCATC	0.458													T	132216761	A	T	132216761	4	4	446	1	0	0	0	0	0	1	0	0	359	131	5	5	13	5	AFF4	5	132216761	Nonsense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	17746957	132216761	48698499	21	43175											
ABLIM3	22885	broad.mit.edu	37	chr5	148619346	148619346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgagaacctggacctcCggcagagacgggcctccagc	9	5	12	15	3	1	2	0	0	1	2	3	5	3	3	5	3	3	1	5	3	2	1	rs150488528	byFrequency	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:148619346C>T	ENST00000506113.1	+	12	1581	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	ABLIM3_ENST00000504238.1_Missense_Mutation_p.R305W|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R367W|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R305W|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R367W|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R305W|RP11-331K21.1_ENST00000512647.2_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	367					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGGACCTCCGGCAGAGACG	0.642													T	148619346	C	T	148619346	3	4	446	1	0	0	0	0	1	0	0	0	96	643	23	1	1145	1	ABLIM3	5	148619346	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	16402585	148619346	32295914	22	43176											
PDGFRB	5159	broad.mit.edu	37	chr5	149513469	149513469	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggggtatgtccactcgAagttgaccacctcattcccg	7	10	11	13	3	1	1	1	1	0	0	4	2	3	1	4	2	1	2	4	2	2	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr5:149513469A>C	ENST00000261799.4	-	5	1203	c.734T>G	c.(733-735)tTc>tGc	p.F245C		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	245	Ig-like C2-type 3.				aorta morphogenesis|cardiac myofibril assembly|hemopoiesis|metanephric glomerular capillary formation|metanephric glomerular mesangial cell proliferation involved in metanephros development|peptidyl-tyrosine phosphorylation|positive regulation of calcium ion import|positive regulation of chemotaxis|positive regulation of DNA biosynthetic process|positive regulation of ERK1 and ERK2 cascade|positive regulation of MAP kinase activity|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of mitosis|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of smooth muscle cell migration|positive regulation of smooth muscle cell proliferation|protein autophosphorylation|regulation of actin cytoskeleton organization|retina vasculature development in camera-type eye|smooth muscle cell chemotaxis	apical plasma membrane|cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|vascular endothelial growth factor receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTCCACTCGAAGTTGACCAC	0.567			T	"ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"	"MPD, AML, CMML, CML"								C	149513469	A	C	149513469	3	2	446	1	0	0	0	0	1	0	0	0	11738	246	9	5	2662	5	PDGFRB	5	149513469	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	894123	149513469	31401791	23	43177											
E2F3	1871	broad.mit.edu	37	chr6	20488347	20488347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttctgttcatagagcCtacaaatacatttggcaagt	12	12	6	11	0	2	1	1	0	1	1	2	1	2	1	2	1	3	2	2	1	5	6			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:20488347C>T	ENST00000346618.3	+	6	1069	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	E2F3_ENST00000535432.1_Silent_p.L204L	NM_001949.4	NP_001940.1	O00716	E2F3_HUMAN	E2F transcription factor 3	335	Dimerization (Potential).				G1 phase of mitotic cell cycle|G2 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)	7	all_cancers(95;0.154)|all_epithelial(95;0.0585)|Breast(50;0.146)|Ovarian(93;0.148)		OV - Ovarian serous cystadenocarcinoma(7;0.0068)|all cancers(50;0.0148)|Epithelial(50;0.0562)			TTCATAGAGCCTACAAATACA	0.373													T	20488347	C	T	20488347	2	4	446	1	0	0	0	0	0	0	0	1	4907	680	24	2		2	E2F3	6	20488347	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		20488347	150626720	24	43178											
DAAM2	23500	broad.mit.edu	37	chr6	39828775	39828775	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagaagaaatggcagatCtactgcagcaagaagaaggt	16	6	12	7	0	1	5	0	1	1	5	1	6	1	5	1	2	3	3	1	2	6	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:39828775C>A	ENST00000538976.1	+	3	422	c.240C>A	c.(238-240)atC>atA	p.I80I	DAAM2_ENST00000274867.4_Silent_p.I80I|DAAM2_ENST00000405961.3_Silent_p.I80I|DAAM2_ENST00000398904.2_Silent_p.I80I|DAAM2_ENST00000494405.1_3'UTR	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	80	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					AATGGCAGATCTACTGCAGCA	0.498													A	39828775	C	A	39828775	2	1	446	1	0	0	0	0	0	0	0	1	4250	903	32	4		4	DAAM2	6	39828775	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	19340428	39828775	131286292	25	43179											
GSTA2	2939	broad.mit.edu	37	chr6	52616422	52616422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagagtcaagctcttccaCgtagtagagaagttccacca	12	9	9	11	1	2	2	1	0	1	2	4	3	4	2	3	0	1	5	3	0	5	5			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:52616422C>T	ENST00000493422.1	-	6	654	c.499G>A	c.(499-501)Gtg>Atg	p.V167M		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	167	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	AGCTCTTCCACGTAGTAGAGA	0.517													T	52616422	C	T	52616422	3	4	446	1	0	0	0	0	1	0	0	0	6886	536	19	1	177	1	GSTA2	6	52616422	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	12787647	52616422	118498645	26	43180											
LAMA2	3908	broad.mit.edu	37	chr6	129828695	129828695	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaggcccctgccgatcTggaacaacccacctccagct	9	5	10	17	1	1	1	0	0	1	1	2	3	2	2	6	3	4	2	6	3	2	0			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:129828695T>A	ENST00000421865.2	+	62	8814	c.8765T>A	c.(8764-8766)cTg>cAg	p.L2922Q		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2922	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CCTGCCGATCTGGAACAACCC	0.478													A	129828695	T	A	129828695	3	1	446	1	0	0	0	0	1	0	0	0	8665	1580	55	5	9011	5	LAMA2	6	129828695	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	77212273	129828695	41286372	27	43181											
IGF2R	3482	broad.mit.edu	37	chr6	160448256	160448256	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacagctgcgggcctgtcCccccggcactgccgcctgcc	3	7	11	20	3	1	0	1	0	0	0	2	0	2	0	7	2	4	2	7	2	0	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr6:160448256C>A	ENST00000356956.1	+	6	834	c.686C>A	c.(685-687)cCc>cAc	p.P229H		NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor	229					receptor-mediated endocytosis	cell surface|endocytic vesicle|endosome|integral to plasma membrane|lysosomal membrane|trans-Golgi network transport vesicle	glycoprotein binding|insulin-like growth factor receptor activity|phosphoprotein binding|transporter activity			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)		CGGGCCTGTCCCCCCGGCACT	0.552													A	160448256	C	A	160448256	3	1	446	1	0	0	0	0	1	0	0	0	7634	623	22	4	708	4	IGF2R	6	160448256	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	30619561	160448256	10666811	28	43182											
ZPBP	11055	broad.mit.edu	37	chr7	50023025	50023025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaccatttggagagtacCttcaatatagtatatttgag	14	13	7	7	0	1	2	1	1	0	1	1	3	1	2	3	1	2	2	3	1	7	8			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:50023025C>T	ENST00000046087.2	-	7	943	c.874G>A	c.(874-876)Ggt>Agt	p.G292S	ZPBP_ENST00000419417.1_Missense_Mutation_p.G291S|ZPBP_ENST00000491129.1_5'UTR	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	292					binding of sperm to zona pellucida	extracellular region		p.G292S(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGGAGAGTACCTTCAATATAG	0.353													T	50023025	C	T	50023025	3	4	446	1	0	0	0	0	1	0	0	0	18318	681	24	2	189	2	ZPBP	7	50023025	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		50023025	109115638	29	43183											
STAG3L4	64940	broad.mit.edu	37	chr7	66774605	66774605	+	RNA	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaactgagtctgcacgAagatatcaatcagcgtcagt	12	9	8	12	2	4	2	3	1	1	1	5	3	5	2	2	0	3	1	2	0	4	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:66774605A>T	ENST00000416602.2	+	0	622					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AGTCTGCACGAAGATATCAAT	0.483													T	66774605	A	T	66774605	1	4	446	0	1	0	0	0	0	0	0	0	15343	246	9	5		5	STAG3L4	7	66774605	RNA	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	16751580	66774605	92364058	30	43184											
FZD9	8326	broad.mit.edu	37	chr7	72849620	72849620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtggccctcttccacatccGcaagatcatgaagacgggcg	9	7	11	14	4	2	3	1	1	1	2	4	3	4	3	3	2	0	1	3	2	2	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:72849620G>A	ENST00000344575.3	+	1	1512	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H		NM_003508.2	NP_003499.1	O00144	FZD9_HUMAN	frizzled family receptor 9	428					B cell differentiation|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|neuroblast proliferation|vasculature development	cell surface|filopodium membrane|integral to membrane|perinuclear region of cytoplasm	G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(2)|skin(1)	14		Lung NSC(55;0.0659)|all_lung(88;0.152)				TTCCACATCCGCAAGATCATG	0.617													A	72849620	G	A	72849620	3	1	446	1	0	0	0	0	1	0	0	0	6189	1087	38	1	1285	1	FZD9	7	72849620	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	6075015	72849620	86289043	31	43185											
PCLO	27445	broad.mit.edu	37	chr7	82580275	82580275	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtctagctgctgctgtTgtttatcttcttcagggaca	7	15	9	10	0	4	0	1	0	3	0	4	1	4	1	1	1	3	5	1	1	3	6			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:82580275T>A	ENST00000333891.9	-	6	9966	c.9629A>T	c.(9628-9630)cAa>cTa	p.Q3210L	PCLO_ENST00000423517.2_Missense_Mutation_p.Q3210L	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCTGCTGTTGTTTATCTTC	0.458													A	82580275	T	A	82580275	3	1	446	1	0	0	0	0	1	0	0	0	11659	1812	63	5	5896	5	PCLO	7	82580275	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	9730655	82580275	76558388	32	43186											
MUC17	140453	broad.mit.edu	37	chr7	100679149	100679149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctgttgactctaacagTcctgtggtcacttctacagc	8	13	7	13	0	3	1	1	1	2	0	5	1	5	1	2	1	3	1	2	1	2	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:100679149T>C	ENST00000306151.4	+	3	4516	c.4452T>C	c.(4450-4452)agT>agC	p.S1484S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1484	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)					ACTCTAACAGTCCTGTGGTCA	0.473													C	100679149	T	C	100679149	2	2	446	1	0	0	0	0	0	0	0	1	10050	1664	58	3		3	MUC17	7	100679149	Silent	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	18098874	100679149	58459514	33	43187											
CHPF2	54480	broad.mit.edu	37	chr7	150932146	150932146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ttccacaggactcggtacatCcagacagagctgggctcccg	9	7	11	14	2	0	2	0	0	0	2	4	3	3	3	3	3	2	3	3	3	1	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr7:150932146C>G	ENST00000035307.2	+	2	1789	c.276C>G	c.(274-276)atC>atG	p.I92M	CHPF2_ENST00000495645.1_Missense_Mutation_p.I84M	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	92						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTCGGTACATCCAGACAGAGC	0.572													G	150932146	C	G	150932146	3	3	446	1	0	0	0	0	1	0	0	0	3399	845	30	4	282	4	CHPF2	7	150932146	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	50252997	150932146	8206517	34	43188											
CSPP1	79848	broad.mit.edu	37	chr8	68030998	68030998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggttcaggaatgatgggcGtacagcctgcagcttatgtt	9	12	13	7	1	1	1	1	1	0	0	1	2	1	2	1	3	4	5	1	3	3	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:68030998G>A	ENST00000262210.5	+	13	1655	c.1624G>A	c.(1624-1626)Gta>Ata	p.V542I	CSPP1_ENST00000412460.1_Missense_Mutation_p.V248I	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	577						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			AATGATGGGCGTACAGCCTGC	0.308													A	68030998	G	A	68030998	3	1	446	1	0	0	0	0	1	0	0	0	3995	1145	40	1	1787	1	CSPP1	8	68030998	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		68030998	78333024	35	43189											
CNGB3	54714	broad.mit.edu	37	chr8	87683308	87683308	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttataacaggagctgcAggcggtttgttttgtgggct	7	15	13	6	1	1	0	1	0	0	0	1	1	1	1	0	4	3	5	0	4	2	6			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr8:87683308A>G	ENST00000320005.5	-	4	404	c.357T>C	c.(355-357)ccT>ccC	p.P119P		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	119					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CAGGAGCTGCAGGCGGTTTGT	0.413													G	87683308	A	G	87683308	2	3	446	1	0	0	0	0	0	0	0	1	3632	175	7	3		3	CNGB3	8	87683308	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	19652310	87683308	58680714	36	43190											
PSAT1	29968	broad.mit.edu	37	chr9	80923424	80923424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctggggtttgccctccGagagtgcccctcggtcctgg	2	10	14	15	2	0	1	0	0	0	1	3	2	2	1	6	4	3	2	6	4	0	1	rs114496656	by1000genomes	TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:80923424G>A	ENST00000376588.3	+	6	733	c.665G>A	c.(664-666)cGa>cAa	p.R222Q	PSAT1_ENST00000347159.2_Missense_Mutation_p.R222Q	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	222					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	TTTGCCCTCCGAGAGTGCCCC	0.537													A	80923424	G	A	80923424	3	1	446	1	0	0	0	0	1	0	0	0	12729	1058	37	1	687	1	PSAT1	9	80923424	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		80923424	60290007	37	43191											
OR1N2	138882	broad.mit.edu	37	chr9	125316117	125316117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atcaccatgggcttgctgttCctcactgttcccctcctgct	4	14	7	16	0	2	0	2	0	0	0	5	0	5	0	5	1	2	5	5	1	0	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:125316117C>A	ENST00000373688.2	+	1	727	c.669C>A	c.(667-669)ttC>ttA	p.F223L		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						GCTTGCTGTTCCTCACTGTTC	0.502													A	125316117	C	A	125316117	3	1	446	1	0	0	0	0	1	0	0	0	11046	854	30	4	671	4	OR1N2	9	125316117	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	44392693	125316117	15897314	38	43192											
OLFML2A	169611	broad.mit.edu	37	chr9	127563860	127563860	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccacagccaagccccgCgccctggcccagcagcaggc	8	1	11	21	2	0	0	0	0	0	0	0	0	0	0	6	2	5	2	6	2	1	0			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:127563860C>T	ENST00000373580.3	+	5	837	c.837C>T	c.(835-837)cgC>cgT	p.R279R	OLFML2A_ENST00000288815.5_Silent_p.R65R	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	279										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAAGCCCCGCGCCCTGGCCC	0.632													T	127563860	C	T	127563860	2	4	446	1	0	0	0	0	0	0	0	1	10933	755	27	1		1	OLFML2A	9	127563860	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	2247743	127563860	13649571	39	43193											
ASS1	445	broad.mit.edu	37	chr9	133355812	133355812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgacatcgtggagaacCgcttcattggaatgaagtcc	11	11	11	8	2	1	3	1	2	0	1	3	5	2	4	2	2	1	2	2	2	4	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr9:133355812C>T	ENST00000372394.1	+	12	1295	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000372393.3_Missense_Mutation_p.R272C|ASS1_ENST00000352480.5_Missense_Mutation_p.R272C			P00966	ASSY_HUMAN	argininosuccinate synthase 1	272			R -> C (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGTGGAGAACCGCTTCATTGG	0.607													T	133355812	C	T	133355812	3	4	446	1	0	0	0	0	1	0	0	0	1066	652	23	1	852	1	ASS1	9	133355812	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	5791952	133355812	7857619	40	43194											
HNRNPF	3185	broad.mit.edu	37	chr10	43882891	43882891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcccctgtaatcttgccttCggggtccacaggcaatgtga	7	12	10	12	1	1	1	0	1	1	0	4	1	3	1	4	3	1	2	4	3	2	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:43882891C>T	ENST00000443950.2	-	3	928	c.442G>A	c.(442-444)Gaa>Aaa	p.E148K	HNRNPF_ENST00000357065.4_Missense_Mutation_p.E148K|HNRNPF_ENST00000544000.1_Missense_Mutation_p.E148K|HNRNPF_ENST00000337970.3_Missense_Mutation_p.E148K|HNRNPF_ENST00000356053.3_Missense_Mutation_p.E148K	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	148	RRM 2.				regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						ATCTTGCCTTCGGGGTCCACA	0.507													T	43882891	C	T	43882891	3	4	446	1	0	0	0	0	1	0	0	0	7320	893	31	1	809	1	HNRNPF	10	43882891	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		43882891	91651856	41	43195											
KCNK18	338567	broad.mit.edu	37	chr10	118969303	118969303	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccccaaacttggcacAtgtccttcacgcccaagctg	9	7	8	17	1	1	0	1	0	0	0	2	0	2	0	5	2	2	2	5	2	2	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr10:118969303A>C	ENST00000334549.1	+	3	648	c.648A>C	c.(646-648)acA>acC	p.T216T		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	216						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		AACTTGGCACATGTCCTTCAC	0.527													C	118969303	A	C	118969303	2	2	446	1	0	0	0	0	0	0	0	1	8123	204	8	5		5	KCNK18	10	118969303	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	75086412	118969303	16565444	42	43196											
MRGPRX1	259249	broad.mit.edu	37	chr11	18955787	18955787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataaaaaaatcagccacGcgactgtgatgaaatctgat	17	8	7	9	2	2	3	1	3	1	0	2	4	2	3	1	0	1	0	1	0	5	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:18955787G>A	ENST00000302797.3	-	1	769	c.545C>T	c.(544-546)gCg>gTg	p.A182V	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	182					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AATCAGCCACGCGACTGTGAT	0.522													A	18955787	G	A	18955787	3	1	446	1	0	0	0	0	1	0	0	0	9842	1087	38	1	427	1	MRGPRX1	11	18955787	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		18955787	116050729	43	43197											
GLYATL1	92292	broad.mit.edu	37	chr11	58711063	58711063	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcttctagtatccccaggAgcgcgaagtgaacacggaag	12	6	13	10	3	1	1	0	1	1	0	2	5	2	3	2	2	3	2	2	2	5	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:58711063A>T	ENST00000300079.5	+	2	122	c.72A>T	c.(70-72)ggA>ggT	p.G24G	GLYATL1_ENST00000317391.4_5'UTR|RP11-142C4.6_ENST00000533954.1_RNA	NM_001220496.1|NM_080661.3	NP_001207425.1|NP_542392.2	Q969I3	GLYL1_HUMAN	glycine-N-acyltransferase-like 1	0						mitochondrion	glycine N-acyltransferase activity			NS(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|skin(4)|urinary_tract(1)	34					Glycine(DB00145)	tatccccaggagcgcgaagtg	0.438													T	58711063	A	T	58711063	2	4	446	1	0	0	0	0	0	0	0	1	6536	291	11	5		5	GLYATL1	11	58711063	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	39755276	58711063	76295453	44	43198											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603246	64603246	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgactaccttggcctgggaCgactcctcaaggcgttgctc	6	11	11	13	2	1	1	1	1	0	0	3	3	2	2	3	3	2	2	3	3	2	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:64603246C>T	ENST00000342711.5	-	14	1745	c.1746G>A	c.(1744-1746)tcG>tcA	p.S582S		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	582					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TGGCCTGGGACGACTCCTCAA	0.667													T	64603246	C	T	64603246	2	4	446	1	0	0	0	0	0	0	0	1	3104	523	19	1		1	CDC42BPG	11	64603246	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	5892183	64603246	70403270	45	43199											
MMP1	4312	broad.mit.edu	37	chr11	102666018	102666018	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctggacaggattttgggaAcgtcctaaggaaaataaaat	15	9	12	5	1	0	0	0	0	0	0	1	4	1	4	1	5	1	1	1	5	6	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr11:102666018A>T	ENST00000315274.6	-	6	853	c.786T>A	c.(784-786)cgT>cgA	p.R262R	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	262	Metalloprotease.		R -> S (in dbSNP:rs12282811).		blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GATTTTGGGAACGTCCTAAGG	0.418													T	102666018	A	T	102666018	2	4	446	1	0	0	0	0	0	0	0	1	9723	30	2	5		5	MMP1	11	102666018	Silent	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	38062772	102666018	32340498	46	43200											
MUCL1	118430	broad.mit.edu	37	chr12	55248906	55248906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctctttcagagaatcCgacaacagctgctccagctg	9	12	7	13	1	3	1	1	0	2	1	6	3	5	1	2	0	4	3	2	0	2	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:55248906C>T	ENST00000308796.6	+	2	111	c.65C>T	c.(64-66)cCg>cTg	p.P22L	MUCL1_ENST00000546809.1_Missense_Mutation_p.P17L|MUCL1_ENST00000547990.1_3'UTR	NM_058173.2	NP_477521.1	Q96DR8	MUCL1_HUMAN	mucin-like 1	22						extracellular region|membrane				breast(1)|kidney(1)|lung(1)	3						TCAGAGAATCCGACAACAGCT	0.418													T	55248906	C	T	55248906	3	4	446	1	0	0	0	0	1	0	0	0	10058	652	23	1	71	1	MUCL1	12	55248906	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		55248906	78602989	47	43201											
TMTC2	160335	broad.mit.edu	37	chr12	83526152	83526152	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggaaaaacaaggcttaaAgacttctaagacctgacaca	18	7	7	9	0	1	3	0	1	1	2	1	4	1	4	1	2	1	1	1	2	6	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:83526152A>G	ENST00000549919.1	+	13	4282	c.2477A>G	c.(2476-2478)aAg>aGg	p.K826R	TMTC2_ENST00000321196.3_Missense_Mutation_p.K832R			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	832						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						CAAGGCTTAAAGACTTCTAAG	0.502													G	83526152	A	G	83526152	3	3	446	1	0	0	0	0	1	0	0	0	16361	72	3	3	2541	3	TMTC2	12	83526152	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	28277246	83526152	50325743	48	43202											
NOS1	4842	broad.mit.edu	37	chr12	117691474	117691474	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggggtccagcactctcaaAgttgtctctgaggtcgggcc	7	9	13	12	1	2	1	1	1	2	0	6	1	3	1	2	4	1	2	2	4	1	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr12:117691474A>G	ENST00000317775.6	-	17	3302	c.2617T>C	c.(2617-2619)Ttt>Ctt	p.F873L	NOS1_ENST00000338101.4_Missense_Mutation_p.F907L|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	873	Flavodoxin-like.				multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GCACTCTCAAAGTTGTCTCTG	0.557													G	117691474	A	G	117691474	3	3	446	1	0	0	0	0	1	0	0	0	10617	72	3	3	1739	3	NOS1	12	117691474	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	34165322	117691474	16160421	49	43203											
PSME1	5720	broad.mit.edu	37	chr14	24606640	24606640	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcggaagaaacagcaggaGgcaagctgggaagacctggg	14	2	18	7	1	0	2	0	0	0	2	0	6	0	5	1	5	4	3	1	5	4	0			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr14:24606640G>A	ENST00000382708.3	+	4	309	c.246G>A	c.(244-246)gaG>gaA	p.E82E	PSME1_ENST00000470718.1_3'UTR|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000561435.1_Splice_Site_p.E82E|PSME1_ENST00000206451.6_Splice_Site_p.E82E	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	82					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		AACAGCAGGAGGCAAGCTGGG	0.507													A	24606640	G	A	24606640	5	1	446	1	0	0	0	0	0	0	1	0	12791	1014	35	2	260	2	PSME1	14	24606640	Splice_Site	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		24606640	82742900	50	43204											
TRIM69	140691	broad.mit.edu	37	chr15	45050943	45050943	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaagccttgaatgaggAgatggagttgaatctgagcc	12	8	16	5	0	1	5	0	4	1	1	1	8	1	7	2	4	2	1	2	4	3	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr15:45050943A>G	ENST00000558173.1	+	2	4837	c.92A>G	c.(91-93)gAg>gGg	p.E31G	TRIM69_ENST00000559390.1_Missense_Mutation_p.E235G|TRIM69_ENST00000560442.1_Missense_Mutation_p.E31G|TRIM69_ENST00000558329.1_Missense_Mutation_p.E31G|TRIM69_ENST00000561043.1_Intron|TRIM69_ENST00000338264.4_Missense_Mutation_p.E76G|TRIM69_ENST00000329464.4_Missense_Mutation_p.E235G			Q86WT6	TRI69_HUMAN	tripartite motif containing 69	235	Necessary for nuclear localization (By similarity).		V -> A (in dbSNP:rs3759880).		apoptosis	nuclear speck	zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(9)|skin(1)	20		all_cancers(109;2.47e-13)|all_epithelial(112;2.84e-11)|Lung NSC(122;2.23e-07)|all_lung(180;1.81e-06)|Melanoma(134;0.0122)		all cancers(107;5.5e-19)|GBM - Glioblastoma multiforme(94;1.07e-06)|Colorectal(105;0.138)|COAD - Colon adenocarcinoma(120;0.141)		TTGAATGAGGAGATGGAGTTG	0.473													G	45050943	A	G	45050943	3	3	446	1	0	0	0	0	1	0	0	0	16643	304	11	3	718	3	TRIM69	15	45050943	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08		45050943	57480449	51	43205											
ITGAX	3687	broad.mit.edu	37	chr16	31391335	31391335	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgctcctcagagaaaatCgcacccccagcatctgactt	10	8	8	15	2	2	2	1	1	1	1	4	3	3	2	3	1	2	3	3	1	2	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:31391335C>T	ENST00000268296.4	+	26	3130	c.3009C>T	c.(3007-3009)atC>atT	p.I1003I	ITGAX_ENST00000562522.1_Silent_p.I1003I	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	1003					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CAGAGAAAATCGCACCCCCAG	0.577													T	31391335	C	T	31391335	2	4	446	1	0	0	0	0	0	0	0	1	7947	874	31	1		1	ITGAX	16	31391335	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		31391335	58963418	52	43206											
TUBB3	10381	broad.mit.edu	37	chr16	90001621	90001621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacctgcgcaagctggcCgtcaacatggtgcccttccc	6	8	11	16	2	1	1	1	1	0	0	2	1	2	1	4	2	4	3	4	2	2	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr16:90001621C>T	ENST00000304984.5	+	3	2841	c.546C>T	c.(544-546)gcC>gcT	p.A182A	TUBB3_ENST00000554444.1_Silent_p.A182A|TUBB3_ENST00000315491.7_Silent_p.A254A|TUBB3_ENST00000555576.1_Intron|TUBB3_ENST00000556922.1_Silent_p.A601A			Q13509	TBB3_HUMAN	tubulin, beta 3 class III	254					'de novo' posttranslational protein folding|axon guidance|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(3)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17		all_cancers(9;1.69e-11)|Lung NSC(15;8.94e-06)|all_lung(18;1.39e-05)|all_neural(9;0.00581)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0273)		GCAAGCTGGCCGTCAACATGG	0.687													T	90001621	C	T	90001621	2	4	446	1	0	0	0	0	0	0	0	1	16859	639	23	1		1	TUBB3	16	90001621	Silent	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	58610286	90001621	353132	53	43207											
TP53	7157	broad.mit.edu	37	chr17	7578524	7578524	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcaggtcttggccagttGgcaaaacatcttgttgaggg	9	10	15	7	0	2	1	0	1	2	0	2	1	2	1	1	5	1	4	1	5	2	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:7578524G>A	ENST00000420246.2	-	5	538	c.406C>T	c.(406-408)Caa>Taa	p.Q136*	TP53_ENST00000269305.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q136*|TP53_ENST00000413465.2_Nonsense_Mutation_p.Q136*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q136*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	136	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q -> E (in sporadic cancers; somatic mutation).|Q -> H (in sporadic cancers; somatic mutation).|Q -> K (in a sporadic cancer; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q136*(34)|p.0?(8)|p.C135fs*9(3)|p.Q136E(3)|p.N131fs*27(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.Q136K(1)|p.S127_Q136del10(1)|p.V73fs*9(1)|p.Q43*(1)|p.Y126fs*11(1)|p.Q4*(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.Q136_K139delQLAK(1)|p.Q136fs*34(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)|p.C135_Q136insXXXXXX(1)|p.C135_Q136insX(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)		TTGGCCAGTTGGCAAAACATC	0.562		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)			A	7578524	G	A	7578524	4	1	446	1	0	0	0	0	0	1	0	0	16482	1357	47	2	892	2	TP53	17	7578524	Nonsense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		7578524	73616686	54	43208											
COX10	1352	broad.mit.edu	37	chr17	13977745	13977745	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataagcagtggattacatTtcagcactttagcttcctca	12	13	6	10	0	2	0	2	0	0	0	3	1	3	1	1	1	4	3	1	1	4	6			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:13977745T>G	ENST00000261643.3	+	2	226	c.149T>G	c.(148-150)tTt>tGt	p.F50C	COX10_ENST00000536205.1_5'UTR|COX10_ENST00000429152.2_Missense_Mutation_p.F50C|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	50					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGGATTACATTTCAGCACTTT	0.398													G	13977745	T	G	13977745	3	3	446	1	0	0	0	0	1	0	0	0	3793	1841	64	5	155	5	COX10	17	13977745	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	6399221	13977745	67217465	55	43209											
CCL1	6346	broad.mit.edu	37	chr17	32687613	32687613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgggcagtgcctcagcatttTtctgtgcctctgaacccatc	6	12	9	14	1	3	1	1	1	2	0	4	1	3	1	3	1	4	2	3	1	1	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:32687613T>C	ENST00000225842.3	-	3	325	c.256A>G	c.(256-258)Aaa>Gaa	p.K86E		NM_002981.1	NP_002972.1	P22362	CCL1_HUMAN	chemokine (C-C motif) ligand 1	86					cellular calcium ion homeostasis|chemotaxis|immune response|signal transduction|viral reproduction	extracellular space	chemokine activity						Ovarian(249;0.0443)|Breast(31;0.133)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)|BRCA - Breast invasive adenocarcinoma(366;0.155)		CTCAGCATTTTTCTGTGCCTC	0.502													C	32687613	T	C	32687613	3	2	446	1	0	0	0	0	1	0	0	0	2910	1850	64	3	38	3	CCL1	17	32687613	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	18709868	32687613	48507597	56	43210											
ABCA5	23461	broad.mit.edu	37	chr17	67280148	67280148	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaaatacgtcttccaaagTcgtcatggaaacaccataag	17	9	6	9	2	2	0	1	0	1	0	4	1	3	1	2	1	2	0	2	1	7	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:67280148T>A	ENST00000392676.3	-	18	2402	c.2338A>T	c.(2338-2340)Act>Tct	p.T780S	ABCA5_ENST00000588877.1_Missense_Mutation_p.T780S|ABCA5_ENST00000392677.2_Missense_Mutation_p.T780S			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	780					cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					TCTTCCAAAGTCGTCATGGAA	0.328													A	67280148	T	A	67280148	3	1	446	1	0	0	0	0	1	0	0	0	35	1667	58	5	2678	5	ABCA5	17	67280148	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	34592535	67280148	13915062	57	43211											
QRICH2	84074	broad.mit.edu	37	chr17	74287133	74287133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactggatcttctccaagtcGgtttggccggcctgctcctc	5	12	10	14	2	2	0	0	0	2	0	6	1	3	1	4	4	2	2	4	4	2	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr17:74287133G>A	ENST00000262765.5	-	4	3356	c.3177C>T	c.(3175-3177)acC>acT	p.T1059T		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	1059							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TCTCCAAGTCGGTTTGGCCGG	0.522													A	74287133	G	A	74287133	2	1	446	1	0	0	0	0	0	0	0	1	12968	1103	39	1		1	QRICH2	17	74287133	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	7006985	74287133	6908077	58	43212											
TUBB6	84617	broad.mit.edu	37	chr18	12311033	12311033	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttttgggcagcttttccgGcctgacaacttcatctttgg	5	15	9	12	1	2	1	1	1	1	0	3	1	3	1	3	3	2	2	3	3	1	6			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr18:12311033G>T	ENST00000317702.5	+	3	492	c.258G>T	c.(256-258)cgG>cgT	p.R86R	TUBB6_ENST00000586653.1_Silent_p.R86R|TUBB6_ENST00000591208.1_Silent_p.R86R|TUBB6_ENST00000590967.1_Silent_p.R86R|TUBB6_ENST00000592683.1_Silent_p.R86R|TUBB6_ENST00000591909.1_Silent_p.R86R			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	86					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		AGCTTTTCCGGCCTGACAACT	0.458													T	12311033	G	T	12311033	2	4	446	1	0	0	0	0	0	0	0	1	16862	1190	42	4		4	TUBB6	18	12311033	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		12311033	65766215	59	43213											
FGF22	27006	broad.mit.edu	37	chr19	643472	643472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaacggccacaacacctaCgcctcacagcgctggcgccg	10	3	11	17	5	1	1	1	0	0	1	1	2	1	1	4	2	4	1	4	2	3	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:643472C>T	ENST00000586042.2	+	3	389	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	FGF22_ENST00000166133.3_Silent_p.Y86Y|FGF22_ENST00000215530.5_Silent_p.Y127Y			Q9HCT0	FGF22_HUMAN	fibroblast growth factor 22	0					cell differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular space	growth factor activity			endometrium(1)|lung(1)|prostate(1)	3		all_epithelial(18;2.78e-22)|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)		ACAACACCTACGCCTCACAGC	0.741													T	643472	C	T	643472	3	4	446	1	0	0	0	0	1	0	0	0	5900	547	19	1	391	1	FGF22	19	643472	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		643472	58485511	60	43214											
SAFB2	9667	broad.mit.edu	37	chr19	5594175	5594175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcgttgctcccgctccCgctgctcgcgctccctgcgg	1	8	13	19	7	0	0	0	0	0	0	4	1	3	0	3	2	3	6	3	2	0	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:5594175C>T	ENST00000252542.4	-	15	2198	c.1934G>A	c.(1933-1935)cGg>cAg	p.R645Q		NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	645	Arg-rich.|Glu-rich.|Interacts with SAFB1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		CTCCCGCTCCCGCTGCTCGCG	0.672													T	5594175	C	T	5594175	3	4	446	1	0	0	0	0	1	0	0	0	13898	652	23	1	955	1	SAFB2	19	5594175	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	4950703	5594175	53534808	61	43215											
KLK3	354	broad.mit.edu	37	chr19	51361822	51361822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcatgctgtgtgctggaCgctggacagggggcaaaagc	9	8	16	8	1	1	0	1	0	0	0	1	2	1	2	0	4	3	5	0	4	2	1			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:51361822C>T	ENST00000360617.3	+	4	601	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KLK3_ENST00000593997.1_Missense_Mutation_p.R201C|KLK3_ENST00000597483.1_Missense_Mutation_p.R158C|KLK3_ENST00000595952.1_Missense_Mutation_p.R158C|KLK3_ENST00000326003.2_Missense_Mutation_p.R201C			P07288	KLK3_HUMAN	kallikrein-related peptidase 3	201	Peptidase S1.				negative regulation of angiogenesis|proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|cervix(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00763)|GBM - Glioblastoma multiforme(134;0.0144)		GTGTGCTGGACGCTGGACAGG	0.532													T	51361822	C	T	51361822	3	4	446	1	0	0	0	0	1	0	0	0	8463	536	19	1	619	1	KLK3	19	51361822	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	45767647	51361822	7767161	62	43216											
ZNF416	55659	broad.mit.edu	37	chr19	58084238	58084239	+	Frame_Shift_Ins	INS	-	-	A																															ttctccagtgtgaattctgcINSaatgttcaataaggttggaa																										TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr19:58084238_58084239insA	ENST00000196489.3	-	4	1255_1256	c.1033_1034insT	c.(1033-1035)tgcfs	p.C345fs		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GTGAATTCTGCAATGTTCAATA	0.441													A	58084239	-	A	58084238	7	5	446	1	0	1	1	0	0	0	0	0	17994	710	25	0	754	0	ZNF416	19	58084238	Frame_Shift_Ins	INS	-	TCGA-E1-A7YD-01A-11D-A34A-08	6722416	58084238	1044745	63	43217											
CST4	1472	broad.mit.edu	37	chr20	23669471	23669471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggcgaagtgaagggcacGctgtacccactcatcattga	11	8	12	10	2	2	2	2	2	0	0	2	4	2	2	1	2	1	3	1	2	3	2	rs138934020		TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:23669471G>A	ENST00000217423.3	-	1	206	c.136C>T	c.(136-138)Cgt>Tgt	p.R46C		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	46						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					TGAAGGGCACGCTGTACCCAC	0.592													A	23669471	G	A	23669471	3	1	446	1	0	0	0	0	1	0	0	0	4007	1087	38	1	301	1	CST4	20	23669471	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08		23669471	39356049	64	43218											
VSTM2L	128434	broad.mit.edu	37	chr20	36560079	36560079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgacatgacagcacggacggGcgaggacgtggagatggcct	10	5	17	9	4	0	3	0	2	0	1	0	7	0	5	1	5	1	1	1	5	0	0			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:36560079G>A	ENST00000373461.4	+	2	411	c.164G>A	c.(163-165)gGc>gAc	p.G55D	VSTM2L_ENST00000373459.4_Intron|VSTM2L_ENST00000373458.3_Missense_Mutation_p.G55D	NM_080607.2	NP_542174.1	Q96N03	VTM2L_HUMAN	V-set and transmembrane domain containing 2 like	55	Ig-like.									central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(1)|skin(1)	8		Myeloproliferative disorder(115;0.00878)				GCACGGACGGGCGAGGACGTG	0.637													A	36560079	G	A	36560079	3	1	446	1	0	0	0	0	1	0	0	0	17332	1203	42	2	170	2	VSTM2L	20	36560079	Missense_Mutation	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	12890608	36560079	26465441	65	43219											
SEMG1	6406	broad.mit.edu	37	chr20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaatgccctacataagaCgacaaaatcacaacgacatc	17	8	5	11	2	1	2	1	1	0	1	2	4	1	2	1	0	3	0	1	0	6	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378													T	43836216	C	T	43836216	3	4	446	1	0	0	0	0	1	0	0	0	14137	536	19	1	284	1	SEMG1	20	43836216	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08	7276137	43836216	19189304	66	43220											
CHRNA4	1137	broad.mit.edu	37	chr20	61981166	61981166	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagagggctccttcttgcAtgtgcatttgcacggagagg	8	10	14	9	2	1	2	0	0	1	2	2	4	2	2	1	3	3	4	1	3	1	3			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr20:61981166A>G	ENST00000370263.4	-	5	1818	c.1597T>C	c.(1597-1599)Tgc>Cgc	p.C533R	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	533					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	TCCTTCTTGCATGTGCATTTG	0.711													G	61981166	A	G	61981166	3	3	446	1	0	0	0	0	1	0	0	0	3415	217	8	3	294	3	CHRNA4	20	61981166	Missense_Mutation	SNP	A	TCGA-E1-A7YD-01A-11D-A34A-08	18144950	61981166	1044354	67	43221											
JAM2	58494	broad.mit.edu	37	chr21	27012164	27012166	+	In_Frame_Del	DEL	CTG	CTG	-																															ggagccgccaccgcctcctcCtgctgctgctgcgctacctg																										TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:27012164_27012166delCTG	ENST00000480456.1	+	1	581_583	c.31_33delCTG	c.(31-33)ctgdel	p.L14del	JAM2_ENST00000400532.1_In_Frame_Del_p.L14del|JAM2_ENST00000312957.5_In_Frame_Del_p.L14del|JAM2_ENST00000425221.2_In_Frame_Del_p.L14del	NM_001270407.1|NM_021219.3	NP_001257336.1|NP_067042.1	P57087	JAM2_HUMAN	junctional adhesion molecule 2	14					blood coagulation|cell-cell adhesion|leukocyte migration	integral to plasma membrane|tight junction				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCGCCTCCTCCTGCTGCTGCTGC	0.724													-	27012166	CTG	-	27012164	7	5	446	1	0	1	0	1	0	0	0	0	8001	680	24	0	33	0	JAM2	21	27012164	In_Frame_Del	DEL	CTG	TCGA-E1-A7YD-01A-11D-A34A-08		27012164	21117731	68	43222											
ITGB2	3689	broad.mit.edu	37	chr21	46321434	46321434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgacctgcatcatggcGtccagcccaccctcgggtgc	5	6	13	17	4	1	0	1	0	0	0	3	1	2	0	4	3	3	1	4	3	0	0			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chr21:46321434G>A	ENST00000397850.2	-	7	1166	c.714C>T	c.(712-714)gaC>gaT	p.D238D	ITGB2_ENST00000302347.5_Silent_p.D238D|ITGB2_ENST00000397852.1_Silent_p.D238D|ITGB2_ENST00000397854.3_Silent_p.D181D|ITGB2_ENST00000355153.4_Silent_p.D238D|ITGB2_ENST00000397857.1_Silent_p.D238D			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	238	VWFA.				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	GCATCATGGCGTCCAGCCCAC	0.662													A	46321434	G	A	46321434	2	1	446	1	0	0	0	0	0	0	0	1	7952	1136	40	1		1	ITGB2	21	46321434	Silent	SNP	G	TCGA-E1-A7YD-01A-11D-A34A-08	19309270	46321434	1808461	69	43223											
CSF2RA	1438	broad.mit.edu	37	chrX	1422832	1422832	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggttctgacgacgggaaCctcggctctgtgtacattta	8	11	11	11	3	2	1	0	1	2	0	3	3	2	2	2	3	2	3	2	3	3	4			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:1422832C>A	ENST00000381524.3	+	11	1149	c.963C>A	c.(961-963)aaC>aaA	p.N321K	CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381500.1_Intron|CSF2RA_ENST00000355432.3_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000501036.2_Missense_Mutation_p.N188K|CSF2RA_ENST00000417535.2_Missense_Mutation_p.N355K|CSF2RA_ENST00000361536.3_Intron|CSF2RA_ENST00000381529.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000381509.3_Missense_Mutation_p.N321K|CSF2RA_ENST00000432318.2_Missense_Mutation_p.N321K			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	321						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	ACGACGGGAACCTCGGCTCTG	0.498													A	1422832	C	A	1422832	3	1	446	1	0	0	0	0	1	0	0	0	3967	506	18	4	1103	4	CSF2RA	23	1422832	Missense_Mutation	SNP	C	TCGA-E1-A7YD-01A-11D-A34A-08		1422832	153847728	70	43224											
SHROOM2	357	broad.mit.edu	37	chrX	9863548	9863548	+	Frame_Shift_Del	DEL	C	C	-																															cggatgcccgcgagacaggaCggtgttacccgctggacaaa																										TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:9863548delC	ENST00000380913.3	+	4	1690	c.1600delC	c.(1600-1602)cggfs	p.R534fs		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	534					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CGAGACAGGACGGTGTTACCC	0.692													-	9863548	C	-	9863548	7	5	446	1	0	1	0	1	0	0	0	0	14388	527	19	0	1614	0	SHROOM2	23	9863548	Frame_Shift_Del	DEL	C	TCGA-E1-A7YD-01A-11D-A34A-08	8440716	9863548	145407012	71	43225											
CYLC1	1538	broad.mit.edu	37	chrX	83129602	83129602	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctttgttggtgcaagaTgcctcctccacctccaaaac	9	11	7	14	1	1	1	0	0	1	1	4	1	4	1	5	1	3	2	5	1	3	2			TCGA-E1-A7YD-01A-11D-A34A-08	TCGA-E1-A7YD-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4f91452c-7ec7-406b-b943-2e70e9a51ea6	8ac4a4f3-7585-4ef7-b0ac-77f0cc5e3782	g.chrX:83129602T>C	ENST00000329312.4	+	4	1923	c.1886T>C	c.(1885-1887)aTg>aCg	p.M629T		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	629	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TGGTGCAAGATGCCTCCTCCA	0.408													C	83129602	T	C	83129602	3	2	446	1	0	0	0	0	1	0	0	0	4174	1464	51	3	1900	3	CYLC1	23	83129602	Missense_Mutation	SNP	T	TCGA-E1-A7YD-01A-11D-A34A-08	73266054	83129602	72140958	72	43226											
LRRC7	57554	broad.mit.edu	37	chr1	70509663	70509663	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttacaaacacaatacagtTaaccttggcatgctgcccta	13	10	6	12	0	0	0	0	0	0	0	0	0	0	0	2	1	6	4	2	1	6	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:70509663T>G	ENST00000035383.5	+	20	3912	c.3882T>G	c.(3880-3882)gtT>gtG	p.V1294V	LRRC7_ENST00000415775.2_Silent_p.V578V|LRRC7_ENST00000310961.5_Intron	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	1294						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						ACAATACAGTTAACCTTGGCA	0.388													G	70509663	T	G	70509663	2	3	447	1	0	0	0	0	0	0	0	1	9090	1741	61	5		5	LRRC7	1	70509663	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08		70509663	178740958	1	43227											
FLG	2312	broad.mit.edu	37	chr1	152285924	152285924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggtccgtccatgggcagAgtcaggctgttcatgagtgc	6	9	14	12	2	2	2	2	1	0	1	4	2	4	2	3	3	1	3	3	3	0	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:152285924A>G	ENST00000368799.1	-	3	1473	c.1438T>C	c.(1438-1440)Tct>Cct	p.S480P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	480	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGGGCAGAGTCAGGCTGT	0.612									Ichthyosis				G	152285924	A	G	152285924	3	3	447	1	0	0	0	0	1	0	0	0	5971	304	11	3	10751	3	FLG	1	152285924	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	81776261	152285924	96964697	2	43228											
FCRL1	115350	broad.mit.edu	37	chr1	157768008	157768008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgagttgaggtaggtgaactCttggggtagagggctgggaa	9	10	19	3	0	1	4	0	3	1	1	1	5	1	5	0	6	1	4	0	6	4	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:157768008C>G	ENST00000358292.3	-	7	991	c.940G>C	c.(940-942)Gag>Cag	p.E314Q	FCRL1_ENST00000368176.3_Missense_Mutation_p.E353Q|FCRL1_ENST00000491942.1_Missense_Mutation_p.E353Q|FCRL1_ENST00000489998.1_5'UTR	NM_001159397.1	NP_001152869.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	353						integral to membrane|plasma membrane	receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			TAGGTGAACTCTTGGGGTAGA	0.493													G	157768008	C	G	157768008	3	3	447	1	0	0	0	0	1	0	0	0	5843	922	32	4	314	4	FCRL1	1	157768008	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	5482084	157768008	91482613	3	43229											
DSTYK	25778	broad.mit.edu	37	chr1	205126503	205126503	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atctgcaaacgtgtctccagGgtcagcccagccttggggag	8	8	13	12	1	3	0	1	0	2	0	4	1	3	1	3	3	4	1	3	3	1	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:205126503G>A	ENST00000367162.3	-	10	2280	c.2250C>T	c.(2248-2250)acC>acT	p.T750T	DSTYK_ENST00000367161.3_Silent_p.T750T|DSTYK_ENST00000367160.4_Intron	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	750	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGTCTCCAGGGTCAGCCCAG	0.483													A	205126503	G	A	205126503	2	1	447	1	0	0	0	0	0	0	0	1	4824	1219	43	2		2	DSTYK	1	205126503	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	47358495	205126503	44124118	4	43230											
OR2T10	127069	broad.mit.edu	37	chr1	248757066	248757066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagggtctggttggccagccGcatgctgtatgatcggctga	6	10	15	10	2	1	2	0	2	1	0	2	2	1	2	2	4	2	5	2	4	1	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr1:248757066G>A	ENST00000330500.2	-	1	34	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_001004693.1	NP_001004693.1	Q8NGZ9	O2T10_HUMAN	olfactory receptor, family 2, subfamily T, member 10	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(17)|skin(3)|upper_aerodigestive_tract(1)	26	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TTGGCCAGCCGCATGCTGTAT	0.453													A	248757066	G	A	248757066	3	1	447	1	0	0	0	0	1	0	0	0	11093	1086	38	1	937	1	OR2T10	1	248757066	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	43630563	248757066	493555	5	43231											
SCN3A	6328	broad.mit.edu	37	chr2	165970412	165970412	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtagcaggtttttcgaaGattccaccagatcttccctt	9	14	7	11	1	1	2	0	0	1	2	4	3	3	2	3	1	1	3	3	1	2	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:165970412G>C	ENST00000360093.3	-	20	4074	c.3583C>G	c.(3583-3585)Ctt>Gtt	p.L1195V	SCN3A_ENST00000409101.3_Missense_Mutation_p.L1146V|SCN3A_ENST00000283254.7_Missense_Mutation_p.L1195V	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1195						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.L1195I(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	GTTTTTCGAAGATTCCACCAG	0.343													C	165970412	G	C	165970412	3	2	447	1	0	0	0	0	1	0	0	0	14011	942	33	4	2455	4	SCN3A	2	165970412	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		165970412	77228961	6	43232											
NFE2L2	4780	broad.mit.edu	37	chr2	178097223	178097223	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcaacagaagtttcaggtGactgagcctgattagtagca	13	9	12	7	0	1	4	1	3	0	1	1	5	1	4	1	1	4	4	1	1	4	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:178097223G>C	ENST00000397062.3	-	4	1045	c.491C>G	c.(490-492)tCa>tGa	p.S164*	NFE2L2_ENST00000423513.1_3'UTR|NFE2L2_ENST00000464747.1_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000397063.4_Nonsense_Mutation_p.S148*|NFE2L2_ENST00000446151.2_Nonsense_Mutation_p.S141*	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	164					transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGTTTCAGGTGACTGAGCCTG	0.448			Mis		"NSCLC, HNSCC"					HNSCC(56;0.16)			C	178097223	G	C	178097223	4	2	447	1	0	0	0	0	0	1	0	0	10444	1294	45	4	1334	4	NFE2L2	2	178097223	Nonsense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	12126811	178097223	65102150	7	43233											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	447	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	31015889	209113112	34086261	8	43234											
ADAMTS9	56999	broad.mit.edu	37	chr3	64644310	64644310	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtccttctgtgggtcctCttttctcttgtgttgtccgt	0	22	9	10	1	3	0	0	0	3	0	7	0	6	0	3	1	0	1	3	1	0	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:64644310C>G	ENST00000498707.1	-	4	1179	c.837G>C	c.(835-837)aaG>aaC	p.K279N	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K279N|ADAMTS9_ENST00000459780.1_Missense_Mutation_p.K279N	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	279					glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGTGGGTCCTCTTTTCTCTTG	0.438													G	64644310	C	G	64644310	3	3	447	1	0	0	0	0	1	0	0	0	273	912	32	4	5114	4	ADAMTS9	3	64644310	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		64644310	133378120	9	43235											
EPHA3	2042	broad.mit.edu	37	chr3	89390202	89390202	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgggcagacaaagacccTccatccatggcttgtacccg	9	8	9	15	2	0	2	0	0	0	2	3	2	3	2	5	2	1	3	5	2	2	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:89390202T>C	ENST00000336596.2	+	4	1176	c.951T>C	c.(949-951)ccT>ccC	p.P317P	EPHA3_ENST00000494014.1_Silent_p.P317P|EPHA3_ENST00000452448.2_Silent_p.P317P	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	317	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		ACAAAGACCCTCCATCCATGG	0.433										TSP Lung(6;0.00050)			C	89390202	T	C	89390202	2	2	447	1	0	0	0	0	0	0	0	1	5209	1538	54	3		3	EPHA3	3	89390202	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	24745892	89390202	108632228	10	43236											
PVRL3	25945	broad.mit.edu	37	chr3	110837743	110837743	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggcgaattacttgtgttgTaaaacatccagccttggaaa	14	11	9	7	1	0	0	0	0	0	0	1	2	1	1	2	2	3	2	2	2	6	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:110837743T>C	ENST00000485303.1	+	3	1018	c.743T>C	c.(742-744)gTa>gCa	p.V248A	PVRL3_ENST00000493615.1_Missense_Mutation_p.V225A|PVRL3_ENST00000319792.3_Missense_Mutation_p.V248A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	248	Ig-like C2-type 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						ACTTGTGTTGTAAAACATCCA	0.363													C	110837743	T	C	110837743	3	2	447	1	0	0	0	0	1	0	0	0	12929	1638	57	3	753	3	PVRL3	3	110837743	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	21447541	110837743	87184687	11	43237											
SLC15A2	6565	broad.mit.edu	37	chr3	121634491	121634491	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatgttttggagaagactgCtatgcattggcttttggagt	9	15	12	5	0	0	2	0	0	0	2	0	4	0	3	0	3	2	4	0	3	3	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:121634491C>G	ENST00000489711.1	+	7	1036	c.648C>G	c.(646-648)tgC>tgG	p.C216W	SLC15A2_ENST00000295605.2_Missense_Mutation_p.C185W	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	216					protein transport	integral to plasma membrane	peptide:hydrogen symporter activity|protein binding			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Cefadroxil(DB01140)	GAGAAGACTGCTATGCATTGG	0.398													G	121634491	C	G	121634491	3	3	447	1	0	0	0	0	1	0	0	0	14493	805	28	4	674	4	SLC15A2	3	121634491	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	10796748	121634491	76387939	12	43238											
ACPP	55	broad.mit.edu	37	chr3	132068806	132068806	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caatcacatgaagagagcaaCtcagataccaagctacaaaa	20	5	6	10	0	2	3	2	1	0	2	2	4	2	3	1	0	5	2	1	0	8	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:132068806C>G	ENST00000336375.5	+	8	914	c.824C>G	c.(823-825)aCt>aGt	p.T275S	ACPP_ENST00000475741.1_Missense_Mutation_p.T242S|ACPP_ENST00000351273.7_Missense_Mutation_p.T275S	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	275						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AAGAGAGCAACTCAGATACCA	0.348													G	132068806	C	G	132068806	3	3	447	1	0	0	0	0	1	0	0	0	167	565	20	4	854	4	ACPP	3	132068806	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	10434315	132068806	65953624	13	43239											
CLDN16	10686	broad.mit.edu	37	chr3	190127816	190127816	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtatgctgtagacacAagggtgtaaaatgcacgttt	15	11	10	5	1	0	1	0	0	0	1	0	1	0	1	0	1	2	6	0	1	7	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:190127816A>C	ENST00000264734.2	+	5	1157	c.909A>C	c.(907-909)acA>acC	p.T303T		NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	303					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		CTGTAGACACAAGGGTGTAAA	0.423													C	190127816	A	C	190127816	2	2	447	1	0	0	0	0	0	0	0	1	3508	117	5	5		5	CLDN16	3	190127816	Silent	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	58059010	190127816	7894614	14	43240											
MUC4	4585	broad.mit.edu	37	chr3	195484133	195484133	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaagccaatcttggcaCttcttgctagaatctccaga	11	11	7	12	0	3	2	0	0	3	2	4	2	3	2	3	1	3	2	3	1	4	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr3:195484133C>G	ENST00000463781.3	-	18	15512	c.15053G>C	c.(15052-15054)aGt>aCt	p.S5018T	MUC4_ENST00000346145.4_Missense_Mutation_p.S782T|MUC4_ENST00000349607.4_Missense_Mutation_p.S731T|MUC4_ENST00000475231.1_Missense_Mutation_p.S4966T	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1775					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AATCTTGGCACTTCTTGCTAG	0.552													G	195484133	C	G	195484133	3	3	447	1	0	0	0	0	1	0	0	0	10054	565	20	4	1217	4	MUC4	3	195484133	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	5356317	195484133	2538297	15	43241											
LPHN3	23284	broad.mit.edu	37	chr4	62599060	62599060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcaaatctgtatatgAggatgatgacaatgaggcta	13	12	12	4	0	2	4	1	4	1	0	2	5	2	5	0	3	0	2	0	3	5	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:62599060A>G	ENST00000512091.2	+	7	1730	c.983A>G	c.(982-984)gAg>gGg	p.E328G	LPHN3_ENST00000511324.1_Missense_Mutation_p.E396G|LPHN3_ENST00000507625.1_Missense_Mutation_p.E396G|LPHN3_ENST00000508946.1_Missense_Mutation_p.E328G|LPHN3_ENST00000506700.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514157.1_Missense_Mutation_p.E328G|LPHN3_ENST00000545650.1_Missense_Mutation_p.E328G|LPHN3_ENST00000514996.1_Missense_Mutation_p.E328G|LPHN3_ENST00000507164.1_Missense_Mutation_p.E396G|LPHN3_ENST00000504896.1_Missense_Mutation_p.E328G|LPHN3_ENST00000508693.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506720.1_Missense_Mutation_p.E396G|LPHN3_ENST00000514591.1_Missense_Mutation_p.E328G|LPHN3_ENST00000509896.1_Missense_Mutation_p.E396G|LPHN3_ENST00000506746.1_Missense_Mutation_p.E396G			Q9HAR2	LPHN3_HUMAN	latrophilin 3		Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						TCTGTATATGAGGATGATGAC	0.388													G	62599060	A	G	62599060	3	3	447	1	0	0	0	0	1	0	0	0	8987	304	11	3	1001	3	LPHN3	4	62599060	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08		62599060	128555216	16	43242											
UGT2A3	79799	broad.mit.edu	37	chr4	69817371	69817371	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatgaccttgacattaagCcaatggctcatgtcacaggg	13	9	10	9	0	2	3	2	2	0	1	2	3	2	3	2	2	1	1	2	2	3	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:69817371C>A	ENST00000251566.4	-	1	138	c.108G>T	c.(106-108)tgG>tgT	p.W36C		NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	36						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACATTAAGCCAATGGCTCA	0.473													A	69817371	C	A	69817371	3	1	447	1	0	0	0	0	1	0	0	0	17057	740	26	4	1499	4	UGT2A3	4	69817371	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	7218311	69817371	121336905	17	43243											
FAT4	79633	broad.mit.edu	37	chr4	126369874	126369874	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccgatttccctaaagtgaGagccaaagaacaaacgttca	15	7	9	10	2	1	2	1	1	0	2	2	4	2	2	3	1	3	1	3	1	5	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126369874G>C	ENST00000394329.3	+	9	7716	c.7703G>C	c.(7702-7704)aGa>aCa	p.R2568T	FAT4_ENST00000335110.5_Missense_Mutation_p.R866T	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2568	Cadherin 25.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						CCTAAAGTGAGAGCCAAAGAA	0.413													C	126369874	G	C	126369874	3	2	447	1	0	0	0	0	1	0	0	0	5741	942	33	4	7737	4	FAT4	4	126369874	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	56552503	126369874	64784402	18	43244											
FAT4	79633	broad.mit.edu	37	chr4	126402777	126402777	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttgttaaggcaaagcttaCgaggtgccatgttggagcct	10	12	12	7	1	0	0	0	0	0	0	0	2	0	1	2	3	4	4	2	3	3	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:126402777C>T	ENST00000394329.3	+	15	12713	c.12700C>T	c.(12700-12702)Cga>Tga	p.R4234*	FAT4_ENST00000335110.5_Nonsense_Mutation_p.R2475*	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4234	Laminin G-like 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GCAAAGCTTACGAGGTGCCAT	0.443													T	126402777	C	T	126402777	4	4	447	1	0	0	0	0	0	1	0	0	5741	528	19	1	12758	1	FAT4	4	126402777	Nonsense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	32903	126402777	64751499	19	43245											
GLRB	2743	broad.mit.edu	37	chr4	158057967	158057967	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttccaggttatctattaCtctttcatgccctttggact	6	18	6	11	0	3	0	1	0	2	0	4	1	4	1	2	2	3	2	2	2	3	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:158057967C>G	ENST00000264428.4	+	6	809	c.539C>G	c.(538-540)aCt>aGt	p.T180S	GLRB_ENST00000512619.1_Intron|GLRB_ENST00000509282.1_Missense_Mutation_p.T180S|GLRB_ENST00000541722.1_Missense_Mutation_p.T180S	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta	180					nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTATCTATTACTCTTTCATGC	0.343													G	158057967	C	G	158057967	3	3	447	1	0	0	0	0	1	0	0	0	6514	565	20	4	557	4	GLRB	4	158057967	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	31655190	158057967	33096309	20	43246											
FAT1	2195	broad.mit.edu	37	chr4	187542106	187542106	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatataatggcttggcaaaCacaggggggcagtcattaat	13	10	11	7	0	2	0	2	0	0	0	2	0	2	0	0	5	1	3	0	5	4	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr4:187542106C>A	ENST00000441802.2	-	10	5843	c.5634G>T	c.(5632-5634)gtG>gtT	p.V1878V		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1878	Cadherin 16.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCTTGGCAAACACAGGGGGGC	0.408										HNSCC(5;0.00058)			A	187542106	C	A	187542106	2	1	447	1	0	0	0	0	0	0	0	1	5738	465	17	4		4	FAT1	4	187542106	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	29484139	187542106	3612170	21	43247											
PRDM9	56979	broad.mit.edu	37	chr5	23526454	23526454	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagaacttcccaggaccAtctgcaagaaaactcctcca	13	8	5	15	0	2	2	1	0	2	2	6	3	5	3	4	1	3	1	4	1	4	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:23526454A>G	ENST00000296682.3	+	11	1439	c.1257A>G	c.(1255-1257)ccA>ccG	p.P419P		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	419					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TCCCAGGACCATCTGCAAGAA	0.478										HNSCC(3;0.000094)			G	23526454	A	G	23526454	2	3	447	1	0	0	0	0	0	0	0	1	12549	204	8	3		3	PRDM9	5	23526454	Silent	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08		23526454	157388806	22	43248											
PIK3R1	5295	broad.mit.edu	37	chr5	67591247	67591247	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttcaaaactgtttttcaGgtggttgactcaaaaaggtg	11	15	9	6	0	3	1	3	1	0	0	3	1	3	1	0	3	1	2	0	3	4	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:67591247G>C	ENST00000521381.1	+	14	2361		c.e14-1		PIK3R1_ENST00000336483.5_Splice_Site|PIK3R1_ENST00000274335.5_Splice_Site|PIK3R1_ENST00000320694.8_Splice_Site|PIK3R1_ENST00000523872.1_Splice_Site|PIK3R1_ENST00000521657.1_Splice_Site|PIK3R1_ENST00000396611.1_Splice_Site	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)						epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(4)|p.Y580fs*1(1)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CTGTTTTTCAGGTGGTTGACT	0.363			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			C	67591247	G	C	67591247	5	2	447	1	0	0	0	0	0	0	1	0	11995	1014	35	4	1925	4	PIK3R1	5	67591247	Splice_Site	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	44064793	67591247	113324013	23	43249											
MATR3	9782	broad.mit.edu	37	chr5	138657690	138657690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgtgtgaaggttgacctgtCtgagaaatataaaaaactgg	15	11	11	4	0	1	3	0	3	1	1	1	4	1	3	1	2	1	1	1	2	6	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:138657690C>G	ENST00000394800.2	+	14	2255	c.1706C>G	c.(1705-1707)tCt>tGt	p.S569C	MATR3_ENST00000503811.1_Missense_Mutation_p.S281C|MATR3_ENST00000509990.1_Missense_Mutation_p.S569C|MATR3_ENST00000502929.1_Missense_Mutation_p.S569C|MATR3_ENST00000510056.1_Missense_Mutation_p.S569C|MATR3_ENST00000361059.2_Missense_Mutation_p.S569C|MATR3_ENST00000504203.1_Missense_Mutation_p.S231C|MATR3_ENST00000394805.3_Missense_Mutation_p.S569C|MATR3_ENST00000502499.1_Missense_Mutation_p.S231C			P43243	MATR3_HUMAN	matrin 3	569	RRM 2.					nuclear inner membrane|nuclear matrix	nucleotide binding|protein binding|RNA binding|structural molecule activity|zinc ion binding			breast(2)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			GTTGACCTGTCTGAGAAATAT	0.348													G	138657690	C	G	138657690	3	3	447	1	0	0	0	0	1	0	0	0	9412	913	32	4	1740	4	MATR3	5	138657690	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	71066443	138657690	42257570	24	43250											
PCDHA7	56141	broad.mit.edu	37	chr5	140215035	140215035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttgactctcacttccctgtCtctccctattccagaggacg	6	13	7	15	1	2	2	1	1	2	1	7	3	5	3	3	1	0	1	3	1	1	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:140215035C>G	ENST00000525929.1	+	1	1067	c.1067C>G	c.(1066-1068)tCt>tGt	p.S356C	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.S356C	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTCCCTGTCTCTCCCTATT	0.502													G	140215035	C	G	140215035	3	3	447	1	0	0	0	0	1	0	0	0	11605	913	32	4	1069	4	PCDHA7	5	140215035	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	1557345	140215035	40700225	25	43251											
FLT4	2324	broad.mit.edu	37	chr5	180038441	180038441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagctgccctcttctgagctCtgagagctgcgcggggccat	6	9	13	13	2	3	2	0	2	3	1	3	3	3	2	2	2	5	3	2	2	1	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr5:180038441C>G	ENST00000261937.6	-	27	3654	c.3576G>C	c.(3574-3576)caG>caC	p.Q1192H	FLT4_ENST00000502649.1_Missense_Mutation_p.Q1192H|FLT4_ENST00000393347.3_Missense_Mutation_p.Q1192H	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1192					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	CTTCTGAGCTCTGAGAGCTGC	0.672													G	180038441	C	G	180038441	3	3	447	1	0	0	0	0	1	0	0	0	5993	912	32	4	539	4	FLT4	5	180038441	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	39823406	180038441	876819	26	43252											
TAP2	6891	broad.mit.edu	37	chr6	32782245	32782245	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggacatgaccccagcTctctcctcctgcccattcag	7	9	7	18	0	2	1	1	1	1	0	5	2	4	2	6	1	2	1	6	1	0	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:32782245T>C	ENST00000452392.2	-	14	2489	c.2316A>G	c.(2314-2316)agA>agG	p.R772R	HLA-DOB_ENST00000438763.2_Silent_p.R165R			Q03519	TAP2_HUMAN	transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)	0					antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent|cytosol to ER transport|intracellular transport of viral proteins in host cell|peptide antigen transport|positive regulation of antigen processing and presentation of peptide antigen via MHC class I|positive regulation of T cell mediated cytotoxicity	nucleus|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|peptide antigen-transporting ATPase activity|TAP1 binding|TAP2 binding|tapasin binding										TGACCCCAGCTCTCTCCTCCT	0.522													C	32782245	T	C	32782245	2	2	447	1	0	0	0	0	0	0	0	1	15648	1548	54	3		3	TAP2	6	32782245	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08		32782245	138332822	27	43253											
BAK1	578	broad.mit.edu	37	chr6	33543653	33543653	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctgttcctgctgatggcgGtaaaaaacgtagctgcggaa	10	10	12	9	3	0	1	0	1	0	0	2	2	2	2	2	3	4	5	2	3	5	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr6:33543653G>A	ENST00000374467.3	-	3	371	c.123C>T	c.(121-123)taC>taT	p.Y41Y	BAK1_ENST00000442998.2_Silent_p.Y41Y|BAK1_ENST00000360661.5_Silent_p.Y41Y	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	41					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCTGATGGCGGTAAAAAACGT	0.597													A	33543653	G	A	33543653	2	1	447	1	0	0	0	0	0	0	0	1	1310	1256	44	2		2	BAK1	6	33543653	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	761408	33543653	137571414	28	43254											
GTF2IRD1	9569	broad.mit.edu	37	chr7	73927216	73927216	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtgtcgccgtgcacgatgaGagcgcctttgtggtgggcac	5	10	16	10	4	0	1	0	1	0	1	1	3	0	1	2	2	2	2	2	2	0	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:73927216G>C	ENST00000476977.1	+	3	1871	c.180G>C	c.(178-180)gaG>gaC	p.E60D	GTF2IRD1_ENST00000265755.3_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000455841.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000424337.2_Missense_Mutation_p.E60D|GTF2IRD1_ENST00000489094.1_3'UTR			Q9UHL9	GT2D1_HUMAN	GTF2I repeat domain containing 1	60						nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(19)|ovary(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGCACGATGAGAGCGCCTTTG	0.607													C	73927216	G	C	73927216	3	2	447	1	0	0	0	0	1	0	0	0	6923	933	33	4	186	4	GTF2IRD1	7	73927216	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		73927216	85211447	29	43255											
TRRAP	8295	broad.mit.edu	37	chr7	98497312	98497312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttttagctctacaaacTgaacatccacaatgttgttg	11	15	6	9	0	1	1	0	1	1	0	2	1	2	1	1	0	5	4	1	0	5	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:98497312T>C	ENST00000359863.4	+	10	931	c.722T>C	c.(721-723)cTg>cCg	p.L241P	TRRAP_ENST00000446306.3_Missense_Mutation_p.L241P|TRRAP_ENST00000355540.3_Missense_Mutation_p.L241P	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	241					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTCTACAAACTGAACATCCAC	0.443													C	98497312	T	C	98497312	3	2	447	1	0	0	0	0	1	0	0	0	16702	1580	55	3	756	3	TRRAP	7	98497312	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	24570096	98497312	60641351	30	43256											
SRRT	51593	broad.mit.edu	37	chr7	100478923	100478923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagtgggaccgtggccGtgagcgccgtagtcggggtg	6	6	20	9	5	0	2	0	1	0	1	1	4	0	3	3	4	1	1	3	4	1	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100478923G>A	ENST00000388793.4	+	3	360	c.140G>A	c.(139-141)cGt>cAt	p.R47H	SRRT_ENST00000347433.4_Missense_Mutation_p.R47H|SRRT_ENST00000432932.1_Missense_Mutation_p.R47H|SRRT_ENST00000457580.2_Missense_Mutation_p.R47H	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	47	Arg-rich.				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GACCGTGGCCGTGAGCGCCGT	0.582													A	100478923	G	A	100478923	3	1	447	1	0	0	0	0	1	0	0	0	15268	1145	40	1	146	1	SRRT	7	100478923	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	1981611	100478923	58659740	31	43257											
SERPINE1	5054	broad.mit.edu	37	chr7	100780300	100780300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgtcatagtctcagcccGcatggcccccgaggagatca	9	7	11	14	2	3	1	3	0	1	1	4	3	3	1	3	2	2	2	3	2	1	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr7:100780300G>A	ENST00000223095.4	+	8	1263	c.1106G>A	c.(1105-1107)cGc>cAc	p.R369H	SERPINE1_ENST00000445463.2_Missense_Mutation_p.R354H	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	369		Reactive bond.			angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	GTCTCAGCCCGCATGGCCCCC	0.582													A	100780300	G	A	100780300	3	1	447	1	0	0	0	0	1	0	0	0	14204	1087	38	1	1132	1	SERPINE1	7	100780300	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	301377	100780300	58358363	32	43258											
ARFGEF1	10565	broad.mit.edu	37	chr8	68116926	68116926	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccttacctgtgctgcagCtaagttttctgcatcttctt	5	18	6	12	0	4	0	0	0	4	0	5	0	4	0	2	0	5	5	2	0	2	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:68116926C>G	ENST00000262215.3	-	35	5337	c.4948G>C	c.(4948-4950)Gct>Cct	p.A1650P	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.A488P|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.A1104P	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1650					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TGTGCTGCAGCTAAGTTTTCT	0.433													G	68116926	C	G	68116926	3	3	447	1	0	0	0	0	1	0	0	0	855	797	28	4	621	4	ARFGEF1	8	68116926	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		68116926	78247096	33	43259											
E2F5	1875	broad.mit.edu	37	chr8	86115377	86115377	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcatagatagattaagAtatcttaaagctgaaattga	18	12	8	3	0	2	5	1	2	1	3	2	6	2	5	0	0	1	1	0	0	8	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr8:86115377A>G	ENST00000418930.2	+	3	589	c.393A>G	c.(391-393)agA>agG	p.R131R	E2F5_ENST00000519128.1_3'UTR|E2F5_ENST00000521429.1_5'UTR|E2F5_ENST00000256117.5_Silent_p.R131R|E2F5_ENST00000517476.1_5'UTR|E2F5_ENST00000416274.2_Silent_p.R131R			Q15329	E2F5_HUMAN	E2F transcription factor 5, p130-binding	131	Dimerization (Potential).				G1 phase of mitotic cell cycle	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			NS(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)	8						ATAGATTAAGATATCTTAAAG	0.343													G	86115377	A	G	86115377	2	3	447	1	0	0	0	0	0	0	0	1	4909	330	12	3		3	E2F5	8	86115377	Silent	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	17998451	86115377	60248645	34	43260											
ROR2	4920	broad.mit.edu	37	chr9	94486331	94486331	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacggggacgtagagctgCggcgggggcaccatgggtct	6	7	19	9	4	1	2	0	1	1	1	1	3	1	3	1	6	2	3	1	6	1	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr9:94486331C>T	ENST00000375708.3	-	9	2643	c.2445G>A	c.(2443-2445)ccG>ccA	p.P815P	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	815	Pro-rich.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						CGTAGAGCTGCGGCGGGGGCA	0.677													T	94486331	C	T	94486331	2	4	447	1	0	0	0	0	0	0	0	1	13618	755	27	1		1	ROR2	9	94486331	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		94486331	46727100	35	43261											
DIP2C	22982	broad.mit.edu	37	chr10	735479	735479	+	Frame_Shift_Del	DEL	C	C	-																															ggccaggcgcgcccgcacctCcaggggcagcgccatgccct																										TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:735479delC	ENST00000280886.6	-	1	127	c.40delG	c.(40-42)gagfs	p.E14fs		NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	14						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GCCCGCACCTCCAGGGGCAGC	0.791													-	735479	C	-	735479	7	5	447	1	0	1	0	1	0	0	0	0	4568	864	30	0	4778	0	DIP2C	10	735479	Frame_Shift_Del	DEL	C	TCGA-E1-A7YE-01A-11D-A34A-08		735479	134799268	36	43262											
GATA3	2625	broad.mit.edu	37	chr10	8100475	8100475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccacgccagcccgcaccTcttcaccttcccgcccaccc	5	5	7	24	3	2	0	1	0	1	0	3	0	3	0	8	1	1	1	8	1	0	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:8100475T>C	ENST00000379328.3	+	3	1017	c.449T>C	c.(448-450)cTc>cCc	p.L150P	GATA3_ENST00000346208.3_Missense_Mutation_p.L150P|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	150					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding			NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						AGCCCGCACCTCTTCACCTTC	0.721			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						C	8100475	T	C	8100475	3	2	447	1	0	0	0	0	1	0	0	0	6309	1551	54	3	455	3	GATA3	10	8100475	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	7364996	8100475	127434272	37	43263											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486356	37486356	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccattgaaatgcaaaaGtctgttccaaataaagcctt	14	11	6	10	0	1	1	0	1	1	0	2	1	2	1	4	0	3	2	4	0	6	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:37486356G>C	ENST00000374660.1	+	35	2952	c.2853G>C	c.(2851-2853)aaG>aaC	p.K951N	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.K832N|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.K832N			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1000						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AAATGCAAAAGTCTGTTCCAA	0.308													C	37486356	G	C	37486356	3	2	447	1	0	0	0	0	1	0	0	0	658	1020	36	4	2610	4	ANKRD30A	10	37486356	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	29385881	37486356	98048391	38	43264											
ZWINT	11130	broad.mit.edu	37	chr10	58118576	58118576	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaacttacctctgcagctTgtcccgctcctgttctgcct	4	13	7	17	2	2	0	0	0	2	0	4	1	4	0	5	0	5	4	5	0	2	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:58118576T>G	ENST00000373944.3	-	6	651	c.613A>C	c.(613-615)Aag>Cag	p.K205Q	ZWINT_ENST00000460654.1_5'UTR|ZWINT_ENST00000395405.1_Missense_Mutation_p.K205Q|ZWINT_ENST00000361148.6_Intron|ZWINT_ENST00000318387.2_Missense_Mutation_p.K85Q			O95229	ZWINT_HUMAN	ZW10 interacting kinetochore protein	205					cell division|establishment of localization in cell|mitotic cell cycle checkpoint|mitotic prometaphase|mitotic sister chromatid segregation|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytosol|nucleus	protein N-terminus binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)	20						CTCTGCAGCTTGTCCCGCTCC	0.522													G	58118576	T	G	58118576	3	3	447	1	0	0	0	0	1	0	0	0	18346	1821	63	5	232	5	ZWINT	10	58118576	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	20632220	58118576	77416171	39	43265											
OIT3	170392	broad.mit.edu	37	chr10	74692199	74692199	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgccaccggcgaatgcgtCgtggggcaggaggagaggac	8	5	19	9	4	0	1	0	0	0	1	1	5	0	3	2	6	2	2	2	6	1	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:74692199C>T	ENST00000334011.5	+	9	1773	c.1555C>T	c.(1555-1557)Cgt>Tgt	p.R519C		NM_152635.1	NP_689848.1	Q8WWZ8	OIT3_HUMAN	oncoprotein induced transcript 3	519						nuclear envelope	calcium ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)	35	Prostate(51;0.0198)					GCGAATGCGTCGTGGGGCAGG	0.612													T	74692199	C	T	74692199	3	4	447	1	0	0	0	0	1	0	0	0	10925	884	31	1	1589	1	OIT3	10	74692199	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	16573623	74692199	60842548	40	43266											
LGI1	9211	broad.mit.edu	37	chr10	95556899	95556899	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaatgacattgaaacatTcaagattgaaaacaactggt	18	9	6	8	0	1	4	1	3	0	1	1	4	1	4	1	1	3	0	1	1	6	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:95556899T>A	ENST00000371418.4	+	8	1273	c.1013T>A	c.(1012-1014)tTc>tAc	p.F338Y	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.F290Y	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	338					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATTGAAACATTCAAGATTGAA	0.353													A	95556899	T	A	95556899	3	1	447	1	0	0	0	0	1	0	0	0	8811	1783	62	5	1043	5	LGI1	10	95556899	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	20864700	95556899	39977848	41	43267											
TACC2	10579	broad.mit.edu	37	chr10	123846263	123846263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcacatcgccaagatcttCgagaagcctgtgctcggagc	10	7	12	12	3	1	2	0	0	1	2	4	5	1	3	2	1	4	2	2	1	2	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:123846263C>T	ENST00000369005.1	+	4	4588	c.4248C>T	c.(4246-4248)ttC>ttT	p.F1416F	TACC2_ENST00000515273.1_Silent_p.F1416F|TACC2_ENST00000515603.1_Silent_p.F1416F|TACC2_ENST00000334433.3_Silent_p.F1416F|TACC2_ENST00000453444.2_Silent_p.F1416F|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1416						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAAGATCTTCGAGAAGCCTG	0.592													T	123846263	C	T	123846263	2	4	447	1	0	0	0	0	0	0	0	1	15599	883	31	1		1	TACC2	10	123846263	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	28289364	123846263	11688484	42	43268											
TUBGCP2	10844	broad.mit.edu	37	chr10	135106174	135106174	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggaccccccaagacattcgCctttgtccaccgaggtggct	7	9	10	15	2	0	1	0	0	0	1	2	3	1	2	6	3	0	1	6	3	1	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr10:135106174C>G	ENST00000368563.2	-	8	1399	c.1043G>C	c.(1042-1044)gGc>gCc	p.G348A	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.G376A|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.G348A|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.G218A	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	348					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AAGACATTCGCCTTTGTCCAC	0.622													G	135106174	C	G	135106174	3	3	447	1	0	0	0	0	1	0	0	0	16868	739	26	4	1709	4	TUBGCP2	10	135106174	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	11259911	135106174	428573	43	43269											
DYNC2H1	79659	broad.mit.edu	37	chr11	103058176	103058176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagaaactgagccagaCttgcatggtaatcagtacta	13	9	9	10	0	1	3	1	1	0	2	1	3	1	3	2	1	5	4	2	1	4	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:103058176C>T	ENST00000375735.2	+	43	7145	c.7001C>T	c.(7000-7002)aCt>aTt	p.T2334I	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.T2334I|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2334	AAA 3 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CTGAGCCAGACTTGCATGGTA	0.418													T	103058176	C	T	103058176	3	4	447	1	0	0	0	0	1	0	0	0	4885	565	20	2	7171	2	DYNC2H1	11	103058176	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		103058176	31948340	44	43270											
DDX10	1662	broad.mit.edu	37	chr11	108577517	108577517	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgctaccctcagaaaaagcTatggtgcagcagcttcttca	11	11	8	11	0	3	1	2	0	1	1	3	1	3	1	1	1	6	5	1	1	4	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr11:108577517T>A	ENST00000526794.1	+	10	1307	c.1275T>A	c.(1273-1275)gcT>gcA	p.A425A	DDX10_ENST00000322536.3_Silent_p.A425A			Q13206	DDX10_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 10	425	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|prostate(2)	27		all_cancers(61;1.29e-11)|all_epithelial(67;2.96e-07)|Melanoma(852;1.54e-05)|Acute lymphoblastic leukemia(157;4.24e-05)|all_hematologic(158;0.000141)|Breast(348;0.026)|all_neural(223;0.0729)		BRCA - Breast invasive adenocarcinoma(274;2.48e-05)|Epithelial(105;4.35e-05)|all cancers(92;0.000609)|OV - Ovarian serous cystadenocarcinoma(223;0.133)		CAGAAAAAGCTATGGTGCAGC	0.358			T	NUP98	AML*								A	108577517	T	A	108577517	2	1	447	1	0	0	0	0	0	0	0	1	4376	1509	53	5		5	DDX10	11	108577517	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	5519341	108577517	26428999	45	43271											
PRB1	5542	broad.mit.edu	37	chr12	11507489	11507489	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattcttcctggctgacatCtagaagagaagcacaggatg	13	9	11	8	0	2	4	0	1	2	3	3	6	3	5	1	2	1	2	1	2	3	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:11507489C>G	ENST00000500254.2	-	2	102		c.e2-1		PRB1_ENST00000545626.1_Splice_Site|PRB1_ENST00000546254.1_Intron	NM_005039.3|NM_199353.2	NP_005030.2|NP_955385.1	P04280	PRP1_HUMAN	proline-rich protein BstNI subfamily 1							extracellular region		p.?(1)		NS(1)|central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20			OV - Ovarian serous cystadenocarcinoma(49;0.185)			TGGCTGACATCTAGAAGAGAA	0.438													G	11507489	C	G	11507489	5	3	447	1	0	0	0	0	0	0	1	0	12528	927	32	4	939	4	PRB1	12	11507489	Splice_Site	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		11507489	122344406	46	43272											
PDZRN4	29951	broad.mit.edu	37	chr12	41966618	41966618	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagaaacattgagcttgaGtgtcagaatatcatgcaggc	13	10	11	7	0	2	4	2	3	0	2	2	5	2	4	0	1	3	2	0	1	3	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:41966618G>C	ENST00000298919.7	+	10	1645	c.1257G>C	c.(1255-1257)gaG>gaC	p.E419D	PDZRN4_ENST00000539469.2_Missense_Mutation_p.E421D|PDZRN4_ENST00000402685.2_Missense_Mutation_p.E679D			Q6ZMN7	PZRN4_HUMAN	PDZ domain containing ring finger 4	679	PDZ 2.						ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	77	all_cancers(12;0.000673)	Lung NSC(34;0.0205)|all_lung(34;0.0264)				TTGAGCTTGAGTGTCAGAATA	0.448													C	41966618	G	C	41966618	3	2	447	1	0	0	0	0	1	0	0	0	11786	1020	36	4	2148	4	PDZRN4	12	41966618	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	30459129	41966618	91885277	47	43273											
KRT1	3848	broad.mit.edu	37	chr12	53073597	53073597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acttgatttgctccctttctCgagacttcaccttttggatc	6	17	6	12	1	2	2	1	1	1	1	5	4	3	3	2	1	1	1	2	1	0	6	rs59044845		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr12:53073597C>G	ENST00000252244.3	-	1	594	c.536G>C	c.(535-537)cGa>cCa	p.R179P		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	179	Head.		Missing (in palmoplantar keratoderma; and mild ichthyosis largely limited to the flexural areas).		complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CTCCCTTTCTCGAGACTTCAC	0.502													G	53073597	C	G	53073597	3	3	447	1	0	0	0	0	1	0	0	0	8505	884	31	4	1434	4	KRT1	12	53073597	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	11106979	53073597	80778298	48	43274											
OR10G2	26534	broad.mit.edu	37	chr14	22102379	22102379	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcggccactaccctgacgTccacaaaggtcacaagctca	11	6	9	15	2	2	1	2	1	0	0	3	1	3	1	3	3	2	1	3	3	3	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:22102379T>C	ENST00000542433.1	-	1	717	c.620A>G	c.(619-621)gAc>gGc	p.D207G		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		TACCCTGACGTCCACAAAGGT	0.522													C	22102379	T	C	22102379	3	2	447	1	0	0	0	0	1	0	0	0	10975	1667	58	3	315	3	OR10G2	14	22102379	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08		22102379	85247161	49	43275											
CDH24	64403	broad.mit.edu	37	chr14	23517549	23517549	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccgggttctgcaaggccgtGatgtcgaaggcctcggtgtc	5	10	15	11	4	1	1	0	1	1	0	5	2	2	1	3	4	1	2	3	4	2	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:23517549G>C	ENST00000397359.3	-	13	2359	c.2100C>G	c.(2098-2100)atC>atG	p.I700M	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Missense_Mutation_p.I662M|CDH24_ENST00000487137.2_Missense_Mutation_p.I662M|CDH24_ENST00000267383.5_Missense_Mutation_p.I700M	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN	cadherin 24, type 2	700					adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		GCAAGGCCGTGATGTCGAAGG	0.711													C	23517549	G	C	23517549	3	2	447	1	0	0	0	0	1	0	0	0	3139	1280	45	4	363	4	CDH24	14	23517549	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	1415170	23517549	83831991	50	43276											
NFKBIA	4792	broad.mit.edu	37	chr14	35873813	35873813	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtcgcgggggccctccAtggcccactcctgggggcgc	2	5	16	18	4	0	0	0	0	0	0	3	0	2	0	5	5	0	0	5	5	0	0			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:35873813A>C	ENST00000216797.5	-	1	139	c.38T>G	c.(37-39)aTg>aGg	p.M13R	NFKBIA_ENST00000557140.1_Missense_Mutation_p.M13R|NFKBIA_ENST00000557100.1_5'UTR	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha	13					anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		GGGGCCCTCCATGGCCCACTC	0.716													C	35873813	A	C	35873813	3	2	447	1	0	0	0	0	1	0	0	0	10453	217	8	5	939	5	NFKBIA	14	35873813	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	12356264	35873813	71475727	51	43277											
YLPM1	56252	broad.mit.edu	37	chr14	75266314	75266314	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgcaagcttagactcTgaccaaggccttggaggggt	9	9	13	10	1	1	2	0	1	1	1	2	4	2	3	3	4	2	2	3	4	3	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr14:75266314T>G	ENST00000325680.7	+	5	4438	c.4314T>G	c.(4312-4314)tcT>tcG	p.S1438S	YLPM1_ENST00000238571.3_Silent_p.S1243S|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GCTTAGACTCTGACCAAGGCC	0.483													G	75266314	T	G	75266314	2	3	447	1	0	0	0	0	0	0	0	1	17588	1567	55	5		5	YLPM1	14	75266314	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	39392501	75266314	32083226	52	43278											
NEDD4	4734	broad.mit.edu	37	chr15	56155250	56155250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcaaatggcaagcagcatCtggttggtccaaaacaaccc	13	7	9	12	0	1	0	0	0	1	0	2	0	2	0	2	3	5	5	2	3	5	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:56155250C>G	ENST00000508342.1	-	5	2091	c.1792G>C	c.(1792-1794)Gat>Cat	p.D598H	NEDD4_ENST00000338963.2_Missense_Mutation_p.D526H|NEDD4_ENST00000506154.1_Intron|NEDD4_ENST00000435532.3_Missense_Mutation_p.D179H	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	598	Mediates interaction with TNIK (By similarity).				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAAGCAGCATCTGGTTGGTCC	0.423													G	56155250	C	G	56155250	3	3	447	1	0	0	0	0	1	0	0	0	10386	913	32	4	2251	4	NEDD4	15	56155250	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		56155250	46376142	53	43279											
PTPLAD1	51495	broad.mit.edu	37	chr15	65847277	65847277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaatttcacctggagttCttagaccttgtgaaaccaga	12	13	8	8	0	2	4	1	2	1	2	2	5	2	5	3	1	1	1	3	1	4	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:65847277C>T	ENST00000261875.5	+	3	349	c.183C>T	c.(181-183)ttC>ttT	p.F61F	PTPLAD1_ENST00000566511.1_5'UTR|PTPLAD1_ENST00000442729.2_Silent_p.F61F|PTPLAD1_ENST00000568793.1_Silent_p.F36F|PTPLAD1_ENST00000569894.1_5'UTR|PTPLAD1_ENST00000565299.1_Silent_p.F99F|PTPLAD1_ENST00000562901.1_5'UTR|PTPLAD1_ENST00000566074.1_5'UTR	NM_016395.2	NP_057479.2	Q9P035	HACD3_HUMAN	protein tyrosine phosphatase-like A domain containing 1	61	CS.				activation of JUN kinase activity|fatty acid biosynthetic process|I-kappaB kinase/NF-kappaB cascade|Rac protein signal transduction	endoplasmic reticulum membrane|integral to membrane	GTPase activator activity|lyase activity|protein binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|pancreas(1)	5						ACCTGGAGTTCTTAGACCTTG	0.423													T	65847277	C	T	65847277	2	4	447	1	0	0	0	0	0	0	0	1	12861	912	32	2		2	PTPLAD1	15	65847277	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	9692027	65847277	36684115	54	43280											
IL16	3603	broad.mit.edu	37	chr15	81518014	81518014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactccaagcagctgggaatGatcgaggcaagacctgtagg	13	6	13	9	1	0	2	0	1	0	1	2	4	1	3	2	3	3	4	2	3	5	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr15:81518014G>A	ENST00000394660.2	+	2	634	c.274G>A	c.(274-276)Gat>Aat	p.D92N	IL16_ENST00000302987.4_Missense_Mutation_p.D92N	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	92					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AGCTGGGAATGATCGAGGCAA	0.542													A	81518014	G	A	81518014	3	1	447	1	0	0	0	0	1	0	0	0	7691	1290	45	2	276	2	IL16	15	81518014	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	15670737	81518014	21013378	55	43281											
EMP2	2013	broad.mit.edu	37	chr16	10631921	10631921	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctggaccgcctgcagCgtggagtactctgcgggaaa	7	7	16	11	3	1	0	0	0	1	0	1	3	1	3	3	4	4	2	3	4	2	1	rs61731468	byFrequency	TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr16:10631921C>T	ENST00000359543.3	-	4	389	c.180G>A	c.(178-180)acG>acA	p.T60T	EMP2_ENST00000536829.1_Silent_p.T60T	NM_001424.4	NP_001415.1	P54851	EMP2_HUMAN	epithelial membrane protein 2	60					cell proliferation	integral to membrane		p.T60T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	6						CCGCCTGCAGCGTGGAGTACT	0.622													T	10631921	C	T	10631921	2	4	447	1	0	0	0	0	0	0	0	1	5143	755	27	1		1	EMP2	16	10631921	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		10631921	79722832	56	43282											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A																															cccaggacaggcacaaacacGcacctcaaagctgttccgtc																								rs121913343		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	447	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		7577121	73618089	57	43283	141	2									
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T																															aggacaggcacaaacacgcaCctcaaagctgttccgtccca																								rs121912657		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527		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)			T	7577124	C	T	7577124	3	4	447	1	0	0	0	0	1	0	0	0	16482	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	3	7577124	73618086	58	43284	141	2									
MYH8	4626	broad.mit.edu	37	chr17	10296215	10296215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctcggcctcatctagaCgatgctgcaggtccttcacc	6	10	10	15	2	3	1	2	0	1	1	5	2	4	1	3	2	3	4	3	2	1	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10296215C>T	ENST00000403437.2	-	37	5490	c.5396G>A	c.(5395-5397)cGt>cAt	p.R1799H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1799					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTCATCTAGACGATGCTGCAG	0.577									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10296215	C	T	10296215	3	4	447	1	0	0	0	0	1	0	0	0	10117	536	19	1	433	1	MYH8	17	10296215	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	2719091	10296215	70898995	59	43285											
MYH1	4619	broad.mit.edu	37	chr17	10411733	10411733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccagagtcttcattgcaGacttctggtacagccccacc	9	9	9	14	0	3	2	1	0	2	2	3	3	3	2	4	1	4	2	4	1	1	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:10411733G>A	ENST00000226207.5	-	16	1938	c.1844C>T	c.(1843-1845)tCt>tTt	p.S615F	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	615	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTTCATTGCAGACTTCTGGTA	0.458													A	10411733	G	A	10411733	3	1	447	1	0	0	0	0	1	0	0	0	10105	942	33	2	4075	2	MYH1	17	10411733	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	115518	10411733	70783477	60	43286											
KRT28	162605	broad.mit.edu	37	chr17	38953433	38953433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaagggcttcgtactccGctcgcatgttgttcaacaaa	9	11	9	12	3	1	0	1	0	0	0	4	0	2	0	1	1	3	7	1	1	4	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:38953433G>A	ENST00000306658.7	-	4	856	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	264	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				TTCGTACTCCGCTCGCATGTT	0.637													A	38953433	G	A	38953433	3	1	447	1	0	0	0	0	1	0	0	0	8523	1087	38	1	623	1	KRT28	17	38953433	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	28541700	38953433	42241777	61	43287											
CDC27	996	broad.mit.edu	37	chr17	45199936	45199936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagagaaattcatcagggCgaggtgcgtttgacctaact	12	9	11	9	2	2	2	2	1	0	1	2	4	2	2	2	2	2	1	2	2	3	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:45199936C>T	ENST00000066544.3	-	18	2359	c.2266G>A	c.(2266-2268)Gcc>Acc	p.A756T	CDC27_ENST00000446365.2_Missense_Mutation_p.A695T|CDC27_ENST00000527547.1_Missense_Mutation_p.A755T|CDC27_ENST00000531206.1_Missense_Mutation_p.A762T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	756					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TTCATCAGGGCGAGGTGCGTT	0.358													T	45199936	C	T	45199936	3	4	447	1	0	0	0	0	1	0	0	0	3096	768	27	1	216	1	CDC27	17	45199936	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	6246503	45199936	35995274	62	43288											
ACE	1636	broad.mit.edu	37	chr17	61560492	61560492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggggggtctttagtgggcGtacccccccttcccgctaca	4	10	12	15	2	1	0	0	0	1	0	2	0	2	0	4	4	2	2	4	4	3	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:61560492G>A	ENST00000290866.4	+	9	1469	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H	ACE_ENST00000428043.1_Missense_Mutation_p.R482H|ACE_ENST00000538928.1_Intron|ACE_ENST00000584529.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	482	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	TTTAGTGGGCGTACCCCCCCT	0.552													A	61560492	G	A	61560492	3	1	447	1	0	0	0	0	1	0	0	0	136	1145	40	1	1479	1	ACE	17	61560492	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	16360556	61560492	19634718	63	43289											
WIPI1	55062	broad.mit.edu	37	chr17	66446947	66446947	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcctttcttgaagtgataCacgttcatctgccgtggttt	6	16	10	9	2	3	2	1	2	2	0	3	2	3	2	2	1	3	2	2	1	2	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:66446947C>G	ENST00000262139.5	-	3	254	c.255G>C	c.(253-255)gtG>gtC	p.V85V	WIPI1_ENST00000589459.1_5'UTR|WIPI1_ENST00000546360.1_Silent_p.V3V	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	85					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TGAAGTGATACACGTTCATCT	0.512													G	66446947	C	G	66446947	2	3	447	1	0	0	0	0	0	0	0	1	17472	465	17	4		4	WIPI1	17	66446947	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	4886455	66446947	14748263	64	43290											
ANAPC11	51529	broad.mit.edu	37	chr17	79857259	79857259	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcacaccggatccctgatgtCtagggaagagtcttctaggt	9	10	12	10	1	3	2	0	1	3	1	4	4	4	4	2	3	0	1	2	3	3	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr17:79857259C>G	ENST00000357385.3	+	3	387	c.251C>G	c.(250-252)tCt>tGt	p.S84C	ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000571874.2_Intron	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			TCCCTGATGTCTAGGGAAGAG	0.607													G	79857259	C	G	79857259	3	3	447	1	0	0	0	0	1	0	0	0	600	913	32	4	257	4	ANAPC11	17	79857259	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	13410312	79857259	1337951	65	43291											
GALNT1	2589	broad.mit.edu	37	chr18	33283583	33283583	+	Missense_Mutation	SNP	C	C	G																															tgccaccacctaaaaggcaaCcaactctgggagtatgaccc																										TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283583C>G	ENST00000269195.5	+	10	1612	c.1509C>G	c.(1507-1509)aaC>aaG	p.N503K	GALNT1_ENST00000537549.1_Missense_Mutation_p.N443K	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	503	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.N503N(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						TAAAAGGCAACCAACTCTGGG	0.373													G	33283583	C	G	33283583	3	3	447	1	0	0	0	0	1	0	0	0	6261	506	18	4	1547	4	GALNT1	18	33283583	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		33283583	44793665	66	43292	142	2									
GALNT1	2589	broad.mit.edu	37	chr18	33283593	33283593	+	Nonsense_Mutation	SNP	G	G	T																															taaaaggcaaccaactctggGagtatgacccagtggtaagt																										TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:33283593G>T	ENST00000269195.5	+	10	1622	c.1519G>T	c.(1519-1521)Gag>Tag	p.E507*	GALNT1_ENST00000537549.1_Nonsense_Mutation_p.E447*	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	507	Ricin B-type lectin.				protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						CCAACTCTGGGAGTATGACCC	0.368													T	33283593	G	T	33283593	4	4	447	1	0	0	0	0	0	1	0	0	6261	1175	41	4	1557	4	GALNT1	18	33283593	Nonsense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	10	33283593	44793655	67	43293	142	2									
KCNG2	26251	broad.mit.edu	37	chr18	77624229	77624229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgtccgtgtccttcgtgGccgtcacggccgtgggcctc	1	10	15	15	6	1	0	1	0	0	0	5	0	3	0	5	3	0	0	5	3	0	1			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr18:77624229G>C	ENST00000316249.3	+	1	562	c.562G>C	c.(562-564)Gcc>Ccc	p.A188P		NM_012283.1	NP_036415.1	Q9UJ96	KCNG2_HUMAN	potassium voltage-gated channel, subfamily G, member 2	188					energy reserve metabolic process|regulation of heart contraction|regulation of insulin secretion	voltage-gated potassium channel complex	delayed rectifier potassium channel activity			breast(2)|endometrium(4)|lung(7)|skin(1)|upper_aerodigestive_tract(4)	18		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;6.92e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0244)		GTCCTTCGTGGCCGTCACGGC	0.771													C	77624229	G	C	77624229	3	2	447	1	0	0	0	0	1	0	0	0	8086	1203	42	4	564	4	KCNG2	18	77624229	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	44340636	77624229	453019	68	43294											
MUC16	94025	broad.mit.edu	37	chr19	9067115	9067115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tccttgttcatgacagtggtCatttctgagtgtggaaattc	8	16	10	7	0	3	2	2	2	1	0	5	3	4	3	1	2	0	1	1	2	1	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:9067115C>G	ENST00000397910.4	-	3	20534	c.20331G>C	c.(20329-20331)atG>atC	p.M6777I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6779	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						TGACAGTGGTCATTTCTGAGT	0.493													G	9067115	C	G	9067115	3	3	447	1	0	0	0	0	1	0	0	0	10049	826	29	4	23520	4	MUC16	19	9067115	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		9067115	50061868	69	43295											
ILF3	3609	broad.mit.edu	37	chr19	10795094	10795094	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctcccccttttgtaggtGactttttcacagactgctac	6	16	7	12	0	2	2	1	1	1	1	3	2	2	2	2	1	2	2	2	1	2	6			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:10795094G>C	ENST00000407004.3	+	18	2324	c.2074G>C	c.(2074-2076)Gac>Cac	p.D692H	ILF3_ENST00000449870.1_Intron|ILF3_ENST00000588657.1_Intron|ILF3_ENST00000318511.3_Intron|ILF3_ENST00000592763.1_3'UTR|ILF3_ENST00000589998.1_Missense_Mutation_p.D688H|ILF3_ENST00000420083.1_Intron|ILF3_ENST00000590261.1_Intron|ILF3_ENST00000250241.8_Intron	NM_001137673.1	NP_001131145.1	Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	688	Interaction with PRMT1.				M phase|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleolus|ribonucleoprotein complex	DNA binding|double-stranded RNA binding|protein binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			TTTTGTAGGTGACTTTTTCAC	0.388													C	10795094	G	C	10795094	3	2	447	1	0	0	0	0	1	0	0	0	7770	1290	45	4	2140	4	ILF3	19	10795094	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	1727979	10795094	48333889	70	43296											
EMR2	30817	broad.mit.edu	37	chr19	14866522	14866522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgggtgtcgttgttgcTcagaaaggcagagatcacat	9	13	13	6	1	2	2	2	0	0	2	3	3	2	2	0	2	1	5	0	2	1	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:14866522T>C	ENST00000315576.3	-	13	1811	c.1360A>G	c.(1360-1362)Agc>Ggc	p.S454G	EMR2_ENST00000596991.2_Missense_Mutation_p.S443G|EMR2_ENST00000601345.1_Missense_Mutation_p.S443G|EMR2_ENST00000353876.1_Missense_Mutation_p.S361G|EMR2_ENST00000594076.1_Missense_Mutation_p.S361G|EMR2_ENST00000392964.3_Intron|EMR2_ENST00000392967.2_Missense_Mutation_p.S443G|EMR2_ENST00000594294.1_Missense_Mutation_p.S405G|EMR2_ENST00000353005.1_Missense_Mutation_p.S312G|EMR2_ENST00000346057.1_Missense_Mutation_p.S405G|EMR2_ENST00000392965.3_Missense_Mutation_p.S454G|EMR2_ENST00000595839.1_Missense_Mutation_p.S312G	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	454					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						TCGTTGTTGCTCAGAAAGGCA	0.557													C	14866522	T	C	14866522	3	2	447	1	0	0	0	0	1	0	0	0	5146	1551	54	3	1147	3	EMR2	19	14866522	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	4071428	14866522	44262461	71	43297											
AKAP8	10270	broad.mit.edu	37	chr19	15483080	15483080	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgggccagtttggtgtctgGctcctcgtaaagttggaact	6	12	13	10	2	1	0	0	0	1	0	3	1	2	1	3	4	1	4	3	4	3	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr19:15483080G>C	ENST00000269701.2	-	6	1000	c.940C>G	c.(940-942)Cca>Gca	p.P314A		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	314					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTGGTGTCTGGCTCCTCGTAA	0.572													C	15483080	G	C	15483080	3	2	447	1	0	0	0	0	1	0	0	0	457	1203	42	4	1174	4	AKAP8	19	15483080	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	616558	15483080	43645903	72	43298											
RGS19	10287	broad.mit.edu	37	chr20	62705641	62705641	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtactctgtccgcaggaaCgcccggaacacgctgcgtcc	7	7	11	16	5	1	0	0	0	1	0	3	2	3	2	3	2	4	3	3	2	3	1	rs140669717		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr20:62705641C>T	ENST00000395042.1	-	5	584	c.318G>A	c.(316-318)gcG>gcA	p.A106A	RGS19_ENST00000332298.5_Silent_p.A106A	NM_005873.2	NP_005864.1	P49795	RGS19_HUMAN	regulator of G-protein signaling 19	106	RGS.				autophagy|G-protein coupled receptor protein signaling pathway|negative regulation of signal transduction|small GTPase mediated signal transduction	Golgi apparatus|membrane fraction|plasma membrane	GTPase activator activity|protein binding|signal transducer activity			lung(1)|prostate(1)|skin(1)	3	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					TCCGCAGGAACGCCCGGAACA	0.622													T	62705641	C	T	62705641	2	4	447	1	0	0	0	0	0	0	0	1	13390	523	19	1		1	RGS19	20	62705641	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		62705641	319879	73	43299											
RTDR1	27156	broad.mit.edu	37	chr22	23401887	23401887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcttgtgcctccagggccGcatacttccctgcaggccac	5	9	11	16	1	0	0	0	0	0	0	2	0	2	0	5	3	3	3	5	3	1	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:23401887G>A	ENST00000216036.4	-	7	996	c.800C>T	c.(799-801)gCg>gTg	p.A267V		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	267							binding	p.A267V(1)		breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CTCCAGGGCCGCATACTTCCC	0.632													A	23401887	G	A	23401887	3	1	447	1	0	0	0	0	1	0	0	0	13810	1087	38	1	250	1	RTDR1	22	23401887	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08		23401887	27902679	74	43300											
CRELD2	79174	broad.mit.edu	37	chr22	50320925	50320925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccacagaaggagaaagcccGacacagctgccctcccgcga	12	2	11	16	3	0	2	0	0	0	2	1	5	1	2	4	1	3	1	4	1	2	0	rs143871729		TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chr22:50320925G>A	ENST00000404488.3	+	11	1314	c.1179G>A	c.(1177-1179)ccG>ccA	p.P393P	CRELD2_ENST00000407217.3_Silent_p.P312P|CRELD2_ENST00000328268.4_Silent_p.P344P|CRELD2_ENST00000403427.3_Silent_p.P316P	NM_001135101.1	NP_001128573.1	Q6UXH1	CREL2_HUMAN	cysteine-rich with EGF-like domains 2	344						endoplasmic reticulum|extracellular region	calcium ion binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|stomach(3)	9		all_cancers(38;5.53e-07)|all_epithelial(38;3.84e-06)|all_lung(38;0.00208)|Breast(42;0.0104)|Lung NSC(38;0.0199)|Ovarian(80;0.0907)|Lung SC(80;0.236)		BRCA - Breast invasive adenocarcinoma(115;0.198)|LUAD - Lung adenocarcinoma(64;0.247)		GAGAAAGCCCGACACAGCTGC	0.552													A	50320925	G	A	50320925	2	1	447	1	0	0	0	0	0	0	0	1	3898	1045	37	1		1	CRELD2	22	50320925	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	26919038	50320925	983641	75	43301											
MXRA5	25878	broad.mit.edu	37	chrX	3248147	3248147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtaaagattctccagaagCggcatgttccgaagcatgct	13	9	10	9	2	1	2	0	0	1	2	3	3	2	2	2	1	3	5	2	1	5	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:3248147C>T	ENST00000217939.6	-	4	775	c.621G>A	c.(619-621)ccG>ccA	p.P207P		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	207						extracellular region		p.P207P(2)		NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TCTCCAGAAGCGGCATGTTCC	0.453													T	3248147	C	T	3248147	2	4	447	1	0	0	0	0	0	0	0	1	10079	755	27	1		1	MXRA5	23	3248147	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08		3248147	152022413	76	43302											
RGN	9104	broad.mit.edu	37	chrX	46949264	46949264	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgatcaccacgtgaaaaagTactttgaccaggtggacatt	13	10	9	9	1	1	3	1	3	0	0	1	4	1	4	2	2	1	1	2	2	3	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:46949264T>C	ENST00000397180.1	+	5	1405	c.436T>C	c.(436-438)Tac>Cac	p.Y146H	RGN_ENST00000457380.1_Intron|RGN_ENST00000352078.4_Missense_Mutation_p.Y146H|RGN_ENST00000336169.3_Missense_Mutation_p.Y146H	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	146					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						CGTGAAAAAGTACTTTGACCA	0.498													C	46949264	T	C	46949264	3	2	447	1	0	0	0	0	1	0	0	0	13370	1638	57	3	446	3	RGN	23	46949264	Missense_Mutation	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	43701117	46949264	108321296	77	43303											
MED12	9968	broad.mit.edu	37	chrX	70339254	70339254	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccttgaatgtaaaacaagGtttcaataaccagcctgctg	13	10	9	9	0	1	1	1	1	0	0	1	1	1	1	3	2	4	3	3	2	6	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:70339254G>C	ENST00000333646.6	+	2	330	c.131G>C	c.(130-132)gGt>gCt	p.G44A	MED12_ENST00000374102.1_Missense_Mutation_p.G44A|MED12_ENST00000374080.3_Missense_Mutation_p.G44A	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	44					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding	p.G44D(105)|p.G44V(28)|p.G44A(17)|p.?(5)|p.K42_N46del(3)|p.L39_N47del(2)|p.V41_P49del(2)|p.K42_F45del(2)|p.E35_N46del(2)|p.Q43_N46>H(1)|p.V41_D54del(1)|p.A38_N46del(1)|p.V41_S52del(1)|p.L39_V51del(1)|p.N40_P49>F(1)|p.K42_V51del(1)|p.Q43_Q48del(1)|p.A38_S52del(1)|p.N40_G44del(1)|p.V41_N46del(1)|p.K42_G44>N(1)|p.Q43_G44>H(1)|p.G44_Q48del(1)		breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTAAAACAAGGTTTCAATAAC	0.527			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						C	70339254	G	C	70339254	3	2	447	1	0	0	0	0	1	0	0	0	9503	1261	44	4	137	4	MED12	23	70339254	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	23389990	70339254	84931306	78	43304											
ATRX	546	broad.mit.edu	37	chrX	76813056	76813056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctgctgctgatcaacaaCtcgaaaagacagtgactgct	13	8	8	12	1	1	3	1	2	0	1	2	4	1	3	1	0	5	3	1	0	4	0			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:76813056C>G	ENST00000373344.5	-	30	6779	c.6565G>C	c.(6565-6567)Gtt>Ctt	p.V2189L	ATRX_ENST00000395603.3_Missense_Mutation_p.V2151L|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2189	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)	TGATCAACAACTCGAAAAGAC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76813056	C	G	76813056	3	3	447	1	0	0	0	0	1	0	0	0	1213	565	20	4	937	4	ATRX	23	76813056	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	6473802	76813056	78457504	79	43305											
GPRASP1	9737	broad.mit.edu	37	chrX	101912628	101912628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaataaggatgattagaCatctcactactactactgac	14	11	7	9	0	1	3	1	2	1	1	2	5	1	5	0	2	3	0	0	2	6	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:101912628C>T	ENST00000537097.1	+	6	4600	c.3787C>T	c.(3787-3789)Cat>Tat	p.H1263Y	GPRASP1_ENST00000361600.5_Missense_Mutation_p.H1263Y|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000415986.1_Missense_Mutation_p.H1263Y|GPRASP1_ENST00000444152.1_Missense_Mutation_p.H1263Y	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	1263	OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GATGATTAGACATCTCACTAC	0.403													T	101912628	C	T	101912628	3	4	447	1	0	0	0	0	1	0	0	0	6777	478	17	2	3789	2	GPRASP1	23	101912628	Missense_Mutation	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	25099572	101912628	53357932	80	43306											
MAP7D3	79649	broad.mit.edu	37	chrX	135310868	135310868	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaattctgtcaaaattttTgttgccgcctcggcattcat	8	15	7	11	3	3	0	2	0	1	0	4	0	3	0	2	1	1	3	2	1	3	5			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135310868T>C	ENST00000316077.9	-	11	2020	c.1800A>G	c.(1798-1800)acA>acG	p.T600T	MAP7D3_ENST00000370661.1_Silent_p.T565T|MAP7D3_ENST00000495432.1_5'UTR|MAP7D3_ENST00000370663.5_Silent_p.T582T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	600						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TCAAAATTTTTGTTGCCGCCT	0.408													C	135310868	T	C	135310868	2	2	447	1	0	0	0	0	0	0	0	1	9344	1799	63	3		3	MAP7D3	23	135310868	Silent	SNP	T	TCGA-E1-A7YE-01A-11D-A34A-08	33398240	135310868	19959692	81	43307											
GPR112	139378	broad.mit.edu	37	chrX	135405259	135405259	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgggatggtgtgaagggCaaattagaactcttcctgaa	13	11	12	5	0	1	3	0	2	1	1	2	4	2	4	1	3	1	1	1	3	6	3			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135405259C>A	ENST00000394143.1	+	5	684	c.393C>A	c.(391-393)ggC>ggA	p.G131G	GPR112_ENST00000412101.1_Intron|GPR112_ENST00000394141.1_Intron|GPR112_ENST00000370652.1_Silent_p.G131G|GPR112_ENST00000287534.4_Silent_p.G68G	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	131					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					GTGTGAAGGGCAAATTAGAAC	0.428													A	135405259	C	A	135405259	2	1	447	1	0	0	0	0	0	0	0	1	6683	697	25	4		4	GPR112	23	135405259	Silent	SNP	C	TCGA-E1-A7YE-01A-11D-A34A-08	94391	135405259	19865301	82	43308											
GPR112	139378	broad.mit.edu	37	chrX	135485410	135485410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcccactgcaggaatcccGgctatcatggtggcaatcac	9	10	9	13	1	2	0	2	0	0	0	4	1	4	1	2	4	1	3	2	4	3	2			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135485410G>A	ENST00000394143.1	+	22	8874	c.8583G>A	c.(8581-8583)ccG>ccA	p.P2861P	GPR112_ENST00000412101.1_Silent_p.P2656P|GPR112_ENST00000394141.1_Silent_p.P2656P|GPR112_ENST00000370652.1_Silent_p.P2861P|GPR112_ENST00000287534.4_Silent_p.P2614P	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2861					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAGGAATCCCGGCTATCATGG	0.458													A	135485410	G	A	135485410	2	1	447	1	0	0	0	0	0	0	0	1	6683	1103	39	1		1	GPR112	23	135485410	Silent	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	80151	135485410	19785150	83	43309											
HTATSF1	27336	broad.mit.edu	37	chrX	135591290	135591290	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgagatcagagaagaccttcGagtagagtgttcgaagtttg	12	11	13	5	2	1	4	1	1	0	4	3	8	1	4	1	0	0	3	1	0	3	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:135591290G>C	ENST00000535601.1	+	8	1297	c.875G>C	c.(874-876)cGa>cCa	p.R292P	HTATSF1_ENST00000218364.4_Missense_Mutation_p.R292P	NM_001163280.1	NP_001156752.1	O43719	HTSF1_HUMAN	HIV-1 Tat specific factor 1	292	RRM 2.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent|viral genome replication	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|biliary_tract(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(14)|ovary(3)|prostate(1)	30	Acute lymphoblastic leukemia(192;0.000127)					GAAGACCTTCGAGTAGAGTGT	0.388													C	135591290	G	C	135591290	3	2	447	1	0	0	0	0	1	0	0	0	7491	1058	37	4	901	4	HTATSF1	23	135591290	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	105880	135591290	19679270	84	43310											
PNMA3	29944	broad.mit.edu	37	chrX	152225469	152225469	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacacctgaacacccggagGtgcatgctcatcctggggat	10	7	12	12	1	1	1	1	1	0	0	2	4	2	3	3	4	4	2	3	4	2	0			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:152225469G>T	ENST00000447306.1	+	2	393	c.57G>T	c.(55-57)agG>agT	p.R19S	PNMA3_ENST00000370264.4_Missense_Mutation_p.R19S|PNMA3_ENST00000370265.4_Missense_Mutation_p.R19S	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	19					apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					acacccggaggtgcatgctca	0.577													T	152225469	G	T	152225469	3	4	447	1	0	0	0	0	1	0	0	0	12232	1252	44	4	59	4	PNMA3	23	152225469	Missense_Mutation	SNP	G	TCGA-E1-A7YE-01A-11D-A34A-08	16634179	152225469	3045091	85	43311											
F8	2157	broad.mit.edu	37	chrX	154091433	154091433	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgggtgcaaacggatgtAtcgagcaataattggagggt	12	10	15	4	2	0	0	0	0	0	0	1	3	0	2	0	4	3	4	0	4	4	4			TCGA-E1-A7YE-01A-11D-A34A-08	TCGA-E1-A7YE-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f32a80fb-7af3-4e89-81ee-87a6aa181d97	01c6167c-9bc0-4bc5-8dd0-55ec4f2d5573	g.chrX:154091433A>C	ENST00000360256.4	-	23	6699	c.6499T>G	c.(6499-6501)Tac>Gac	p.Y2167D	F8_ENST00000330287.6_Missense_Mutation_p.Y32D	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2167	F5/8 type C 1.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AAACGGATGTATCGAGCAATA	0.408													C	154091433	A	C	154091433	3	2	447	1	0	0	0	0	1	0	0	0	5392	449	16	5	572	5	F8	23	154091433	Missense_Mutation	SNP	A	TCGA-E1-A7YE-01A-11D-A34A-08	1865964	154091433	1179127	86	43312											
HTR1D	3352	broad.mit.edu	37	chr1	23520183	23520183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgggccttggcctgcCgccagaagagcggggggatg	5	6	17	13	2	0	2	0	0	0	2	1	3	1	3	6	5	2	0	6	5	1	1			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:23520183C>T	ENST00000374619.1	-	1	1039	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	HTR1D_ENST00000314113.3_Missense_Mutation_p.R177Q	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	177					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity	p.R177Q(1)		NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	CTTGGCCTGCCGCCAGAAGAG	0.597													T	23520183	C	T	23520183	3	4	448	1	0	0	0	0	1	0	0	0	7496	652	23	1	607	1	HTR1D	1	23520183	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		23520183	225730438	1	43313											
MACF1	23499	broad.mit.edu	37	chr1	39823120	39823120	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagctcaggccttcttggAtcagcatggccacaatctca	9	10	9	13	0	5	0	4	0	2	0	6	1	5	1	2	3	2	2	2	3	1	2			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:39823120A>T	ENST00000564288.1	+	45	12275	c.11498A>T	c.(11497-11499)gAt>gTt	p.D3833V	MACF1_ENST00000539005.1_Missense_Mutation_p.D1771V|MACF1_ENST00000567887.1_Missense_Mutation_p.D3870V|MACF1_ENST00000361689.2_Missense_Mutation_p.D1771V|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000545844.1_Missense_Mutation_p.D1771V|MACF1_ENST00000372915.3_Missense_Mutation_p.D3838V|MACF1_ENST00000317713.7_Missense_Mutation_p.D1771V|MACF1_ENST00000289893.4_Missense_Mutation_p.D2273V			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3838					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GCCTTCTTGGATCAGCATGGC	0.502													T	39823120	A	T	39823120	3	4	448	1	0	0	0	0	1	0	0	0	9215	333	12	5	11621	5	MACF1	1	39823120	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	16302937	39823120	209427501	2	43314											
SLC27A3	11000	broad.mit.edu	37	chr1	153748614	153748615	+	Frame_Shift_Del	DEL	GC	GC	-																															gcactgcctccgcagctgcgGcgcgcgcgcgctggtgctgg																										TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr1:153748614_153748615delGC	ENST00000271857.2	+	1	1785_1786	c.1025_1026delGC	c.(1024-1026)ggcfs	p.G342fs	SLC27A3_ENST00000484014.1_3'UTR|SLC27A3_ENST00000368661.3_Frame_Shift_Del_p.G261fs			Q5K4L6	S27A3_HUMAN	solute carrier family 27 (fatty acid transporter), member 3	261					fatty acid metabolic process	integral to membrane|mitochondrial membrane	ligase activity|nucleotide binding			NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14	all_lung(78;6.47e-32)|Lung NSC(65;2.52e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CGCAGCTGCGGCGCGCGCGCGC	0.718													-	153748615	GC	-	153748614	7	5	448	1	0	1	0	1	0	0	0	0	14621	1203	42	0	784	0	SLC27A3	1	153748614	Frame_Shift_Del	DEL	GC	TCGA-E1-A7YH-01A-11D-A34A-08	113925494	153748614	95502007	3	43315											
COX5B	1329	broad.mit.edu	37	chr2	98264496	98264496	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgtcgtctggttttggctGcacaaaggcgaggcccagcg	7	8	15	11	4	1	0	0	0	1	0	2	1	1	0	1	4	3	3	1	4	1	2			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr2:98264496G>A	ENST00000258424.2	+	4	362	c.315G>A	c.(313-315)ctG>ctA	p.L105L	COX5B_ENST00000464949.1_3'UTR	NM_001862.2	NP_001853.2	P10606	COX5B_HUMAN	cytochrome c oxidase subunit Vb	105					respiratory electron transport chain|respiratory gaseous exchange	mitochondrial inner membrane	cytochrome-c oxidase activity|metal ion binding			endometrium(1)|lung(1)|urinary_tract(1)	3						GGTTTTGGCTGCACAAAGGCG	0.507													A	98264496	G	A	98264496	2	1	448	1	0	0	0	0	0	0	0	1	3804	1306	46	2		2	COX5B	2	98264496	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		98264496	144934877	4	43316											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	448	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	110848616	209113112	34086261	5	43317											
ZFYVE20	64145	broad.mit.edu	37	chr3	15126301	15126301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatagacccgcagaggCggcagtggtggcggcggttc	9	6	16	10	4	0	2	0	0	0	2	1	2	0	2	1	6	0	3	1	6	2	3			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:15126301C>T	ENST00000253699.3	-	8	1152	c.539G>A	c.(538-540)cGc>cAc	p.R180H	ZFYVE20_ENST00000449964.2_5'UTR|ZFYVE20_ENST00000435849.3_Missense_Mutation_p.R180H|ZFYVE20_ENST00000476527.2_Missense_Mutation_p.R180H	NM_022340.2	NP_071735.2	Q9H1K0	RBNS5_HUMAN	zinc finger, FYVE domain containing 20	180	Necessary for the correct targeting to endosomes.				blood coagulation|endosome transport|protein transport	early endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|skin(3)|stomach(1)|urinary_tract(2)	26						CCCGCAGAGGCGGCAGTGGTG	0.547													T	15126301	C	T	15126301	3	4	448	1	0	0	0	0	1	0	0	0	17767	768	27	1	1843	1	ZFYVE20	3	15126301	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		15126301	182896129	6	43318											
GNAT1	2779	broad.mit.edu	37	chr3	50230983	50230983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcagacactatcgaggaGggcacgatgcccaaggagat	13	5	14	9	2	0	2	0	0	0	2	1	6	0	3	1	4	1	2	1	4	2	1			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:50230983G>A	ENST00000232461.3	+	4	450	c.336G>A	c.(334-336)gaG>gaA	p.E112E	GNAT1_ENST00000433068.1_Silent_p.E112E	NM_144499.2	NP_653082.1	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	112					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|negative regulation of cyclic-nucleotide phosphodiesterase activity|rhodopsin mediated phototransduction|sensory perception of umami taste	heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment membrane	acyl binding|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GDP binding|GTP binding|GTPase activity|protein kinase binding|signal transducer activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CTATCGAGGAGGGCACGATGC	0.652													A	50230983	G	A	50230983	2	1	448	1	0	0	0	0	0	0	0	1	6567	991	35	2		2	GNAT1	3	50230983	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	35104682	50230983	147791447	7	43319											
TMEM45A	55076	broad.mit.edu	37	chr3	100274191	100274191	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcttggttccaaaacattaTtctatcgattggaaattttg	12	17	6	6	1	2	0	0	0	2	0	4	2	3	1	1	2	1	1	1	2	5	8			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr3:100274191T>G	ENST00000403410.1	+	4	804	c.184T>G	c.(184-186)Ttc>Gtc	p.F62V	TMEM45A_ENST00000323523.4_Missense_Mutation_p.F46V|TMEM45A_ENST00000462884.1_3'UTR			Q9NWC5	TM45A_HUMAN	transmembrane protein 45A	46						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)	11						CAAAACATTATTCTATCGATT	0.353													G	100274191	T	G	100274191	3	3	448	1	0	0	0	0	1	0	0	0	16269	1493	52	5	138	5	TMEM45A	3	100274191	Missense_Mutation	SNP	T	TCGA-E1-A7YH-01A-11D-A34A-08	50043208	100274191	97748239	8	43320											
UGT8	7368	broad.mit.edu	37	chr4	115544143	115544143	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgtttgaaagccatatgtAcattttcaagacgctagcct	12	14	7	8	1	1	2	1	1	0	1	1	2	1	2	2	0	3	3	2	0	6	7			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr4:115544143A>G	ENST00000310836.6	+	2	629	c.107A>G	c.(106-108)tAc>tGc	p.Y36C	UGT8_ENST00000394511.3_Missense_Mutation_p.Y36C	NM_001128174.1	NP_001121646	Q16880	CGT_HUMAN	UDP glycosyltransferase 8	36					central nervous system development|peripheral nervous system development	integral to membrane	2-hydroxyacylsphingosine 1-beta-galactosyltransferase activity|UDP-galactose:glucosylceramide beta-1,4-galactosyltransferase activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	31		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000632)		AGCCATATGTACATTTTCAAG	0.478													G	115544143	A	G	115544143	3	3	448	1	0	0	0	0	1	0	0	0	17067	391	14	3	109	3	UGT8	4	115544143	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08		115544143	75610133	9	43321											
RNF216	54476	broad.mit.edu	37	chr7	5781284	5781284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaatcatcctgtgcccCagaatcaaacaatgggttgt	12	10	8	11	0	3	2	3	0	0	2	4	2	4	2	3	1	2	1	3	1	4	1			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:5781284C>T	ENST00000389902.3	-	4	631	c.364G>A	c.(364-366)Ggg>Agg	p.G122R	RNF216_ENST00000425013.2_Intron			Q9NWF9	RN216_HUMAN	ring finger protein 216	65					apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding		FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TCCTGTGCCCCAGAATCAAAC	0.433													T	5781284	C	T	5781284	3	4	448	1	0	0	0	0	1	0	0	0	13571	594	21	2	2463	2	RNF216	7	5781284	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		5781284	153357379	10	43322											
ZSCAN21	7589	broad.mit.edu	37	chr7	99661835	99661835	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgactgtaagtgtggaaaAgcttttgggcagagctcaga	12	11	13	5	0	1	3	1	1	0	2	1	4	1	4	0	2	2	4	0	2	4	4			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:99661835A>G	ENST00000543588.1	+	6	1158	c.914A>G	c.(913-915)aAg>aGg	p.K305R	ZSCAN21_ENST00000292450.4_Silent_p.K339K|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K305R|ZSCAN21_ENST00000477297.1_3'UTR|ZNF3_ENST00000413658.2_3'UTR			Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	0					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTGTGGAAAAGCTTTTGGGC	0.502													G	99661835	A	G	99661835	3	3	448	1	0	0	0	0	1	0	0	0	18331	69	3	3	1027	3	ZSCAN21	7	99661835	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	93880551	99661835	59476828	11	43323											
ASZ1	136991	broad.mit.edu	37	chr7	117003694	117003694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatgaaaagaagaaaacCgaatccgcatatggtaatag	20	6	9	6	2	0	3	0	1	0	2	1	4	1	3	2	1	1	3	2	1	10	3			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:117003694C>T	ENST00000284629.2	-	13	1446	c.1384G>A	c.(1384-1386)Ggt>Agt	p.G462S		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	462					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			AGAAGAAAACCGAATCCGCAT	0.318													T	117003694	C	T	117003694	3	4	448	1	0	0	0	0	1	0	0	0	1074	652	23	1	47	1	ASZ1	7	117003694	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	17341859	117003694	42134969	12	43324											
MEST	4232	broad.mit.edu	37	chr7	130138088	130138088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttctttctcatgactatggaGatattgttgctcaggagctt	8	17	9	7	0	3	2	2	1	2	1	4	4	3	3	0	2	2	3	0	2	2	7			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr7:130138088G>A	ENST00000223215.4	+	5	669	c.448G>A	c.(448-450)Gat>Aat	p.D150N	MEST_ENST00000416162.2_Missense_Mutation_p.D141N|hsa-mir-335_ENST00000604666.1_RNA|MEST_ENST00000393187.1_Missense_Mutation_p.D141N|MEST_ENST00000437945.1_Missense_Mutation_p.D150N|MEST_ENST00000341441.5_Missense_Mutation_p.D141N|MEST_ENST00000378576.4_Missense_Mutation_p.D141N|MEST_ENST00000462132.1_3'UTR	NM_001253900.1|NM_002402.3	NP_001240829.1|NP_002393.2	Q5EB52	MEST_HUMAN	mesoderm specific transcript	150					mesoderm development	endoplasmic reticulum membrane|integral to membrane	hydrolase activity|protein binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(2)	12	Melanoma(18;0.0435)					TGACTATGGAGATATTGTTGC	0.463													A	130138088	G	A	130138088	3	1	448	1	0	0	0	0	1	0	0	0	9559	942	33	2	466	2	MEST	7	130138088	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	13134394	130138088	29000575	13	43325											
CA8	767	broad.mit.edu	37	chr8	61121347	61121347	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcctgtcctctttggctaCtgaaatgcagctctaatgac	8	14	8	11	0	2	2	0	2	2	0	4	2	4	2	2	1	3	4	2	1	3	4			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr8:61121347C>T	ENST00000317995.4	-	8	1134	c.870G>A	c.(868-870)caG>caA	p.Q290Q		NM_004056.4	NP_004047.3	P35219	CAH8_HUMAN	carbonic anhydrase VIII	290					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(6)|prostate(2)|skin(1)	16		all_cancers(86;0.172)|all_epithelial(80;0.0383)|all_lung(136;0.0413)|Lung NSC(129;0.0474)				TCTTTGGCTACTGAAATGCAG	0.468													T	61121347	C	T	61121347	2	4	448	1	0	0	0	0	0	0	0	1	2549	564	20	2		2	CA8	8	61121347	Silent	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		61121347	85242675	14	43326											
OR13C3	138803	broad.mit.edu	37	chr9	107298302	107298302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtggaaaatgccttgcGtcttcctgtggctgaattca	8	12	11	10	2	2	1	1	1	1	0	3	2	3	2	2	2	2	2	2	2	3	3			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr9:107298302G>A	ENST00000374781.2	-	1	835	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AATGCCTTGCGTCTTCCTGTG	0.428													A	107298302	G	A	107298302	3	1	448	1	0	0	0	0	1	0	0	0	11011	1145	40	1	254	1	OR13C3	9	107298302	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		107298302	33915129	15	43327											
ABCA1	19	broad.mit.edu	37	chr9	107602687	107602687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccctccctcgggatgcccGcagacaatacgagacacagc	10	4	9	18	3	0	2	0	0	0	2	2	4	1	3	4	1	3	1	4	1	2	1			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr9:107602687G>A	ENST00000374736.3	-	9	1321	c.927C>T	c.(925-927)tgC>tgT	p.C309C		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	309					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CGGGATGCCCGCAGACAATAC	0.532													A	107602687	G	A	107602687	2	1	448	1	0	0	0	0	0	0	0	1	28	1079	38	1		1	ABCA1	9	107602687	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	304385	107602687	33610744	16	43328											
ARHGAP21	57584	broad.mit.edu	37	chr10	24909113	24909113	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcctctaccactcattcGcctgttatcagaattaacaa	12	12	3	14	1	3	1	2	0	1	1	5	1	4	1	3	0	2	1	3	0	5	4	rs139365604		TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:24909113G>A	ENST00000396432.2	-	9	2197	c.1711C>T	c.(1711-1713)Cga>Tga	p.R571*	ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R358*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	570					signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						CCACTCATTCGCCTGTTATCA	0.393													A	24909113	G	A	24909113	4	1	448	1	0	0	0	0	0	1	0	0	874	1095	38	1	4237	1	ARHGAP21	10	24909113	Nonsense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		24909113	110625634	17	43329											
TET1	80312	broad.mit.edu	37	chr10	70332828	70332828	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttccccaaaaatgtttgctCaggacacagtgtgtgctcct	9	12	9	11	0	1	0	1	0	0	0	3	1	3	1	3	1	2	4	3	1	2	2			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:70332828C>T	ENST00000373644.4	+	2	942	c.733C>T	c.(733-735)Cag>Tag	p.Q245*		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	245					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						AATGTTTGCTCAGGACACAGT	0.488													T	70332828	C	T	70332828	4	4	448	1	0	0	0	0	0	1	0	0	15869	827	29	2	735	2	TET1	10	70332828	Nonsense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	45423715	70332828	65201919	18	43330											
FAM196A	642938	broad.mit.edu	37	chr10	128974295	128974295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgaggttcccctttttgCggtccagagggaacgtctgg	5	14	13	9	2	1	2	0	1	1	1	3	3	3	3	3	4	2	1	3	4	1	5			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr10:128974295C>T	ENST00000522781.1	-	4	920	c.365G>A	c.(364-366)cGc>cAc	p.R122H	FAM196A_ENST00000424811.2_Missense_Mutation_p.R122H|DOCK1_ENST00000280333.6_Intron	NM_001039762.2	NP_001034851.1	Q6ZSG2	F196A_HUMAN	family with sequence similarity 196, member A	122										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						CCCCTTTTTGCGGTCCAGAGG	0.547													T	128974295	C	T	128974295	3	4	448	1	0	0	0	0	1	0	0	0	5575	768	27	1	1086	1	FAM196A	10	128974295	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	58641467	128974295	6560452	19	43331											
SPON1	10418	broad.mit.edu	37	chr11	14096906	14096906	+	RNA	DEL	A	A	-																															tcacagggccagcatcgtacAaaaacgcattatttattttc																										TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr11:14096906delA	ENST00000310358.7	+	0	1032							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		AGCATCGTACAAAAACGCATT	0.517													-	14096906	A	-	14096906	6	5	448	0	1	1	0	1	0	0	0	0	15178	130	5	0		0	SPON1	11	14096906	RNA	DEL	A	TCGA-E1-A7YH-01A-11D-A34A-08		14096906	120909610	20	43332											
ARFGAP2	84364	broad.mit.edu	37	chr11	47196860	47196860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgttggcgaaaaaaaGccgtctggagagcaaagaag	16	6	12	7	2	1	2	0	0	1	2	2	4	2	2	2	2	2	2	2	2	5	1			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr11:47196860G>A	ENST00000524782.1	-	4	497	c.269C>T	c.(268-270)gCt>gTt	p.A90V	ARFGAP2_ENST00000426335.2_Intron|ARFGAP2_ENST00000319543.6_Intron|ARFGAP2_ENST00000395449.3_5'UTR|ARFGAP2_ENST00000419701.2_Missense_Mutation_p.A11V	NM_001242832.1|NM_032389.4	NP_001229761.1|NP_115765.2	Q8N6H7	ARFG2_HUMAN	ADP-ribosylation factor GTPase activating protein 2	90	Arf-GAP.				protein transport|regulation of ARF GTPase activity|vesicle-mediated transport	Golgi membrane|nucleolus|plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23						GCGAAAAAAAGCCGTCTGGAG	0.512													A	47196860	G	A	47196860	3	1	448	1	0	0	0	0	1	0	0	0	853	971	34	2	1348	2	ARFGAP2	11	47196860	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	33099954	47196860	87809656	21	43333											
DTX1	1840	broad.mit.edu	37	chr12	113532652	113532652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctacgagggcgtgcttcGgcacaagggcgtgcggcctg	6	6	18	11	5	0	0	0	0	0	0	1	1	0	0	1	5	3	3	1	5	2	2			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr12:113532652G>A	ENST00000257600.3	+	6	1789	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	429					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						GGCGTGCTTCGGCACAAGGGC	0.652													A	113532652	G	A	113532652	3	1	448	1	0	0	0	0	1	0	0	0	4832	1116	39	1	1308	1	DTX1	12	113532652	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		113532652	20319243	22	43334											
TMOD2	29767	broad.mit.edu	37	chr15	52060571	52060574	+	Frame_Shift_Del	DEL	AGAA	AGAA	-																															ggagaaggaggctttggaacAgaaagacagagaggactttg																										TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr15:52060571_52060574delAGAA	ENST00000249700.4	+	3	460_463	c.239_242delAGAA	c.(238-243)cagaaafs	p.QK80fs	TMOD2_ENST00000435126.2_Frame_Shift_Del_p.QK80fs|TMOD2_ENST00000539962.2_Frame_Shift_Del_p.QK36fs	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	80					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GCTTTGGAACAGAAAGACAGAGAG	0.505													-	52060574	AGAA	-	52060571	7	5	448	1	0	1	0	1	0	0	0	0	16334	188	7	0	245	0	TMOD2	15	52060571	Frame_Shift_Del	DEL	AGAA	TCGA-E1-A7YH-01A-11D-A34A-08		52060571	50470821	23	43335											
CMTM3	123920	broad.mit.edu	37	chr16	66643846	66643846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgatctttaacgacGtggccaaattcctcaaacaa	13	11	5	12	2	3	1	1	1	2	0	4	2	4	1	3	1	3	0	3	1	5	4			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr16:66643846G>A	ENST00000424011.2	+	5	986	c.460G>A	c.(460-462)Gtg>Atg	p.V154M	CMTM3_ENST00000567572.1_Missense_Mutation_p.V154M|CMTM3_ENST00000568477.1_Missense_Mutation_p.V68M|CMTM3_ENST00000562707.1_Missense_Mutation_p.V154M|CMTM3_ENST00000565922.1_Intron|CMTM3_ENST00000360086.4_Intron|CMTM3_ENST00000565003.1_Missense_Mutation_p.V68M|CMTM3_ENST00000566121.1_Missense_Mutation_p.V68M|CMTM3_ENST00000564060.1_Missense_Mutation_p.V122M|CMTM3_ENST00000460097.1_Missense_Mutation_p.V68M|CMTM3_ENST00000565666.1_3'UTR|CMTM3_ENST00000361909.4_Missense_Mutation_p.V154M			Q96MX0	CKLF3_HUMAN	CKLF-like MARVEL transmembrane domain containing 3	154	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			central_nervous_system(1)|endometrium(1)|lung(2)	4		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0671)|Epithelial(162;0.164)		CTTTAACGACGTGGCCAAATT	0.527													A	66643846	G	A	66643846	3	1	448	1	0	0	0	0	1	0	0	0	3615	1145	40	1	474	1	CMTM3	16	66643846	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		66643846	23710907	24	43336											
TP53	7157	broad.mit.edu	37	chr17	7577108	7577108	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccggtctctcccaggaCaggcacaaacacgcacctca	10	5	9	17	3	2	0	1	0	1	0	4	1	3	1	3	3	2	2	3	3	1	0			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:7577108C>A	ENST00000420246.2	-	8	962	c.830G>T	c.(829-831)tGt>tTt	p.C277F	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C277F|TP53_ENST00000445888.2_Missense_Mutation_p.C277F|TP53_ENST00000455263.2_Missense_Mutation_p.C277F|TP53_ENST00000359597.4_Missense_Mutation_p.C277F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 an osteosarcoma 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.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCCCAGGACAGGCACAAAC	0.547		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)			A	7577108	C	A	7577108	3	1	448	1	0	0	0	0	1	0	0	0	16482	478	17	4	456	4	TP53	17	7577108	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		7577108	73618102	25	43337											
TBX4	9496	broad.mit.edu	37	chr17	59560652	59560652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccaggaaatgcccacttTagtgtctacaatcagctctc	11	10	6	14	0	3	0	1	0	2	0	4	1	3	1	3	1	3	1	3	1	4	3			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr17:59560652T>C	ENST00000393853.4	+	9	1579	c.1416T>C	c.(1414-1416)ttT>ttC	p.F472F	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.F471F			P57082	TBX4_HUMAN	T-box 4	471					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATGCCCACTTTAGTGTCTACA	0.647													C	59560652	T	C	59560652	2	2	448	1	0	0	0	0	0	0	0	1	15760	1751	61	3		3	TBX4	17	59560652	Silent	SNP	T	TCGA-E1-A7YH-01A-11D-A34A-08	51983544	59560652	21634558	26	43338											
ZCCHC2	54877	broad.mit.edu	37	chr18	60242148	60242148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcaacttctccccagcCagcgagcgcaggtatcagcc	10	5	10	16	2	2	0	1	0	1	0	3	1	2	0	4	1	7	4	4	1	2	2			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr18:60242148C>T	ENST00000269499.5	+	13	3252	c.2834C>T	c.(2833-2835)cCa>cTa	p.P945L	ZCCHC2_ENST00000586834.1_Missense_Mutation_p.P624L	NM_017742.4	NP_060212.4	Q9C0B9	ZCHC2_HUMAN	zinc finger, CCHC domain containing 2	945					cell communication	cytoplasm	nucleic acid binding|phosphatidylinositol binding|zinc ion binding			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(10)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						TCTCCCCAGCCAGCGAGCGCA	0.642													T	60242148	C	T	60242148	3	4	448	1	0	0	0	0	1	0	0	0	17688	594	21	2	2884	2	ZCCHC2	18	60242148	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		60242148	17835100	27	43339											
ZHX3	23051	broad.mit.edu	37	chr20	39831589	39831589	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctgaaaaccagctatcAatttctcgtcgggtcatttt	9	15	6	11	2	4	1	2	1	2	0	7	1	4	1	1	1	2	1	1	1	4	4			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr20:39831589A>T	ENST00000309060.3	-	4	2383	c.1968T>A	c.(1966-1968)atT>atA	p.I656I	ZHX3_ENST00000560361.1_Silent_p.I656I|ZHX3_ENST00000540170.1_Silent_p.I656I|ZHX3_ENST00000559234.1_Silent_p.I656I|ZHX3_ENST00000432768.2_Silent_p.I656I|ZHX3_ENST00000544979.2_Silent_p.I656I|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000557816.1_Intron			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	656					negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				ACCAGCTATCAATTTCTCGTC	0.502													T	39831589	A	T	39831589	2	4	448	1	0	0	0	0	0	0	0	1	17778	126	5	5		5	ZHX3	20	39831589	Silent	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08		39831589	23193931	28	43340											
TRPM2	7226	broad.mit.edu	37	chr21	45833896	45833896	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggctgacggtcctcctaCtctgcctctacctgctcttc	4	13	8	16	1	3	1	0	1	3	0	6	1	5	1	4	2	4	2	4	2	2	3			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chr21:45833896C>G	ENST00000397928.1	+	20	3530	c.3085C>G	c.(3085-3087)Ctc>Gtc	p.L1029V	TRPM2_ENST00000300481.9_Missense_Mutation_p.L1009V|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300482.5_Missense_Mutation_p.L1029V|TRPM2_ENST00000397932.2_Missense_Mutation_p.L1029V	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1029						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GGTCCTCCTACTCTGCCTCTA	0.642													G	45833896	C	G	45833896	3	3	448	1	0	0	0	0	1	0	0	0	16687	565	20	4	3163	4	TRPM2	21	45833896	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08		45833896	2295999	29	43341											
ARSD	414	broad.mit.edu	37	chrX	2836162	2836162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctgcctgggtcacagtcGtttgtgagcgtgaagggcat	6	10	16	9	2	1	2	1	2	0	0	2	2	1	2	2	3	2	2	2	3	1	1			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:2836162G>A	ENST00000381154.1	-	5	621	c.546C>T	c.(544-546)aaC>aaT	p.N182N	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	182						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGTCACAGTCGTTTGTGAGCG	0.632													A	2836162	G	A	2836162	2	1	448	1	0	0	0	0	0	0	0	1	994	1136	40	1		1	ARSD	23	2836162	Silent	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08		2836162	152434398	30	43342											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998604	27998604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggcaggtcccctgtgcttgGccacacgcttagtattctcg	5	11	12	13	2	1	0	0	0	1	0	3	0	2	0	3	3	1	4	3	3	2	4			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:27998604G>A	ENST00000441525.1	-	1	962	c.848C>T	c.(847-849)gCc>gTc	p.A283V		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	283										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCTGTGCTTGGCCACACGCTT	0.507													A	27998604	G	A	27998604	3	1	448	1	0	0	0	0	1	0	0	0	4311	1203	42	2	958	2	DCAF8L1	23	27998604	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	25162442	27998604	127271956	31	43343											
KIF4A	24137	broad.mit.edu	37	chrX	69572507	69572507	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggtggagcaagaagccGtaagtaattggcccctttgt	9	10	13	9	2	0	1	0	0	0	1	0	2	0	2	3	3	3	3	3	3	4	4			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:69572507G>A	ENST00000374403.3	+	14	1570		c.e14+1		KIF4A_ENST00000374388.3_Splice_Site	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A						anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						GCAAGAAGCCGTAAGTAATTG	0.433													A	69572507	G	A	69572507	5	1	448	1	0	0	0	0	0	0	1	0	8361	1159	40	1	1539	1	KIF4A	23	69572507	Splice_Site	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	41573903	69572507	85698053	32	43344											
ATRX	546	broad.mit.edu	37	chrX	76876000	76876000	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaaacaacaaaatcagggCctacaaaaataaacagaaaa	25	3	4	9	0	1	1	1	0	0	1	1	1	1	1	1	1	4	0	1	1	11	2			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:76876000C>T	ENST00000373344.5	-	20	5349	c.5135G>A	c.(5134-5136)gGc>gAc	p.G1712D	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G1674D	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1712	Helicase ATP-binding.				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)	AAAATCAGGGCCTACAAAAAT	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76876000	C	T	76876000	5	4	448	1	0	0	0	0	0	0	1	0	1213	753	26	2	2407	2	ATRX	23	76876000	Splice_Site	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	7303493	76876000	78394560	33	43345											
CYLC1	1538	broad.mit.edu	37	chrX	83127919	83127919	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaaagaaaactagaagAaggccagaaaccagctcata	21	4	8	8	0	1	5	1	1	0	4	1	5	1	5	2	1	3	1	2	1	9	2			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:83127919A>G	ENST00000329312.4	+	4	240	c.203A>G	c.(202-204)gAa>gGa	p.E68G		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	68					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						AAACTAGAAGAAGGCCAGAAA	0.343													G	83127919	A	G	83127919	3	3	448	1	0	0	0	0	1	0	0	0	4174	246	9	3	217	3	CYLC1	23	83127919	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	6251919	83127919	72142641	34	43346											
CYLC1	1538	broad.mit.edu	37	chrX	83128300	83128300	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagacagtctcaaaaaattGttcacaaaaagataagaaag	22	8	6	5	0	2	3	2	0	1	3	3	3	2	3	0	0	0	1	0	0	8	4			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:83128300G>T	ENST00000329312.4	+	4	621	c.584G>T	c.(583-585)tGt>tTt	p.C195F		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	195					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TCAAAAAATTGTTCACAAAAA	0.318													T	83128300	G	T	83128300	3	4	448	1	0	0	0	0	1	0	0	0	4174	1377	48	4	598	4	CYLC1	23	83128300	Missense_Mutation	SNP	G	TCGA-E1-A7YH-01A-11D-A34A-08	381	83128300	72142260	35	43347											
TRMT2B	79979	broad.mit.edu	37	chrX	100277044	100277044	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctccttctgaacatggAgctcctcctgcccagaccat	9	10	6	16	0	2	2	0	1	2	1	5	3	4	3	5	1	3	1	5	1	2	1			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:100277044A>G	ENST00000338687.7	-	8	1434	c.629T>C	c.(628-630)cTc>cCc	p.L210P	TRMT2B_ENST00000372931.5_Missense_Mutation_p.L255P|TRMT2B_ENST00000545398.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372935.1_Missense_Mutation_p.L255P|TRMT2B_ENST00000372936.3_Missense_Mutation_p.L255P|TRMT2B_ENST00000372939.1_Missense_Mutation_p.L210P			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	255							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTGAACATGGAGCTCCTCCTG	0.448													G	100277044	A	G	100277044	3	3	448	1	0	0	0	0	1	0	0	0	16667	304	11	3	774	3	TRMT2B	23	100277044	Missense_Mutation	SNP	A	TCGA-E1-A7YH-01A-11D-A34A-08	17148744	100277044	54993516	36	43348											
SEPT6	23157	broad.mit.edu	37	chrX	118774726	118774726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttcagttcttctgtgctgCcaatgacagcaaacggcagg	9	11	10	11	1	4	1	1	1	3	0	4	1	4	1	1	2	4	4	1	2	2	3			TCGA-E1-A7YH-01A-11D-A34A-08	TCGA-E1-A7YH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7bd016e-062a-49f1-8294-8fcb32b15cb0	22ba3a91-d5b4-4dde-a2cf-84830a225008	g.chrX:118774726C>T	ENST00000394610.1	-	6	980	c.716G>A	c.(715-717)gGc>gAc	p.G239D	SEPT6_ENST00000394617.2_Missense_Mutation_p.G269D|SEPT6_ENST00000489216.1_Missense_Mutation_p.G239D|SEPT6_ENST00000360156.7_Missense_Mutation_p.G239D|SEPT6_ENST00000343984.5_Missense_Mutation_p.G239D|SEPT6_ENST00000354416.3_Missense_Mutation_p.G239D|SEPT6_ENST00000394616.4_Missense_Mutation_p.G181D|SEPT6_ENST00000354228.4_Missense_Mutation_p.G239D	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	239					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						TTCTGTGCTGCCAATGACAGC	0.537			T	MLL	AML								T	118774726	C	T	118774726	3	4	448	1	0	0	0	0	1	0	0	0	14161	739	26	2	630	2	SEPT6	23	118774726	Missense_Mutation	SNP	C	TCGA-E1-A7YH-01A-11D-A34A-08	18497682	118774726	36495834	37	43349											
COL11A1	1301	broad.mit.edu	37	chr1	103355017	103355017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atatttttactcaccccatcCccttttgctcctggagatcc	7	15	4	15	0	1	1	1	0	0	1	4	2	4	1	6	1	2	1	6	1	2	6			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr1:103355017C>T	ENST00000358392.2	-	59	4811	c.4494G>A	c.(4492-4494)ggG>ggA	p.G1498G	COL11A1_ENST00000512756.1_Silent_p.G1370G|COL11A1_ENST00000353414.4_Silent_p.G1447G|COL11A1_ENST00000370096.3_Silent_p.G1486G	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	1486	Triple-helical region.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		TCACCCCATCCCCTTTTGCTC	0.438													T	103355017	C	T	103355017	2	4	449	1	0	0	0	0	0	0	0	1	3698	610	22	2		2	COL11A1	1	103355017	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		103355017	145895604	1	43350											
NCOA1	8648	broad.mit.edu	37	chr2	24952593	24952593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctttttcacctggcatggGcatgcagcccaggcaaactc	8	10	10	13	0	1	0	1	0	0	0	2	0	1	0	2	3	4	5	2	3	1	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:24952593G>A	ENST00000405141.1	+	18	3821	c.3110G>A	c.(3109-3111)gGc>gAc	p.G1037D	NCOA1_ENST00000288599.5_Missense_Mutation_p.G1037D|NCOA1_ENST00000348332.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000407230.1_Missense_Mutation_p.G886D|NCOA1_ENST00000395856.3_Missense_Mutation_p.G1037D|NCOA1_ENST00000538539.1_Missense_Mutation_p.G1037D|NCOA1_ENST00000406961.1_Missense_Mutation_p.G1037D			Q15788	NCOA1_HUMAN	nuclear receptor coactivator 1	1037									PAX3/NCOA1(8)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(26)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	53	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTGGCATGGGCATGCAGCCC	0.542			T	PAX3	alveolar rhadomyosarcoma								A	24952593	G	A	24952593	3	1	449	1	0	0	0	0	1	0	0	0	10304	1203	42	2	3160	2	NCOA1	2	24952593	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		24952593	218246780	2	43351											
GLS	2744	broad.mit.edu	37	chr2	191795225	191795225	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttagttgtccccaatgttatGggtatgatgtgctggtctcc	6	16	11	8	0	1	1	0	1	1	0	3	1	2	1	3	2	1	4	3	2	4	4			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:191795225G>T	ENST00000320717.3	+	13	1746	c.1488G>T	c.(1486-1488)atG>atT	p.M496I	GLS_ENST00000409215.1_Start_Codon_SNP_p.M1I|GLS_ENST00000409626.1_Missense_Mutation_p.M67I|GLS_ENST00000409428.1_Start_Codon_SNP_p.M1I|GLS_ENST00000338435.4_Missense_Mutation_p.M496I	NM_014905.4	NP_055720.3	O94925	GLSK_HUMAN	glutaminase	496					cellular amino acid biosynthetic process|glutamate secretion|glutamine catabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.00625)|Epithelial(96;0.0744)|all cancers(119;0.181)		L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CCAATGTTATGGGTATGATGT	0.383													T	191795225	G	T	191795225	3	4	449	1	0	0	0	0	1	0	0	0	6519	1348	47	4	1538	4	GLS	2	191795225	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	166842632	191795225	51404148	3	43352											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	449	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	17317887	209113112	34086261	4	43353											
MYL1	4632	broad.mit.edu	37	chr2	211158461	211158461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctaccttcgtagttgatgCagccattggagtcttcttga	7	16	9	9	1	3	2	0	2	3	0	4	3	3	3	2	1	3	3	2	1	2	8			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr2:211158461C>T	ENST00000352451.3	-	5	689	c.542G>A	c.(541-543)tGc>tAc	p.C181Y	MYL1_ENST00000341685.4_Missense_Mutation_p.C137Y|MYL1_ENST00000496436.1_5'UTR	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	181	EF-hand 3.				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		GTAGTTGATGCAGCCATTGGA	0.443													T	211158461	C	T	211158461	3	4	449	1	0	0	0	0	1	0	0	0	10119	710	25	2	50	2	MYL1	2	211158461	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	2045349	211158461	32040912	5	43354											
FIP1L1	81608	broad.mit.edu	37	chr4	54308818	54308818	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttatgattgaatgtttcAggttttcctcctccaccagg	8	16	7	10	0	2	2	1	2	1	0	5	2	5	2	4	2	0	2	4	2	2	5			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:54308818A>C	ENST00000337488.6	+	14	1368		c.e14-1		FIP1L1_ENST00000507166.1_Intron|FIP1L1_ENST00000306932.6_Splice_Site|FIP1L1_ENST00000358575.5_Splice_Site	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1						mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			TGAATGTTTCAGGTTTTCCTC	0.353			T	PDGFRA	idiopathic hypereosinophilic syndrome								C	54308818	A	C	54308818	5	2	449	1	0	0	0	0	0	0	1	0	5945	202	7	5	1258	5	FIP1L1	4	54308818	Splice_Site	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08		54308818	136845458	6	43355											
PDGFRA	5156	broad.mit.edu	37	chr4	55136821	55136821	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatcgaagcaaattaaagctGatccgtgctaaggaagaaga	17	8	10	6	2	0	3	0	1	0	2	2	5	1	4	1	1	3	3	1	1	8	3			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136821G>C	ENST00000257290.5	+	8	1474	c.1143G>C	c.(1141-1143)ctG>ctC	p.L381L	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	381	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATTAAAGCTGATCCGTGCTA	0.333			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55136821	G	C	55136821	2	2	449	1	0	0	0	0	0	0	0	1	11737	1277	45	4		4	PDGFRA	4	55136821	Silent	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	828003	55136821	136017455	7	43356			1	58		3	2	26	N	G	4.280074e-05
PDGFRA	5156	broad.mit.edu	37	chr4	55136837	55136837	+	Missense_Mutation	SNP	G	G	A																															agctgatccgtgctaaggaaGaagacagtggccattatact																										TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136837G>A	ENST00000257290.5	+	8	1490	c.1159G>A	c.(1159-1161)Gaa>Aaa	p.E387K	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	387	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGCTAAGGAAGAAGACAGTGG	0.338			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55136837	G	A	55136837	3	1	449	1	0	0	0	0	1	0	0	0	11737	943	33	2	1185	2	PDGFRA	4	55136837	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	16	55136837	136017439	8	43357	143	2	1	58		3	2	26	N	G	4.280074e-05
PDGFRA	5156	broad.mit.edu	37	chr4	55136846	55136846	+	Missense_Mutation	SNP	G	G	A																															gtgctaaggaagaagacagtGgccattatactattgtagct																										TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55136846G>A	ENST00000257290.5	+	8	1499	c.1168G>A	c.(1168-1170)Ggc>Agc	p.G390S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGAAGACAGTGGCCATTATAC	0.348			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55136846	G	A	55136846	3	1	449	1	0	0	0	0	1	0	0	0	11737	1348	47	2	1194	2	PDGFRA	4	55136846	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	9	55136846	136017430	9	43358	143	2	1	58		3	2	26	N	G	4.280074e-05
PDGFRA	5156	broad.mit.edu	37	chr4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-																															aagttgcccgaggaatggagTttttggcttcaaaaaatgta																										TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			-	55151636	T	-	55151636	7	5	449	1	0	1	0	1	0	0	0	0	11737	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-E1-A7YI-01A-11D-A34A-08	14790	55151636	136002640	10	43359											
UGT2B4	7363	broad.mit.edu	37	chr4	70359499	70359499	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggaaattgaaaatcccagTagtttcgaataagccatatg	16	10	9	6	1	0	1	0	1	0	0	2	4	1	2	2	1	1	2	2	1	7	5			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:70359499T>A	ENST00000305107.6	-	2	828	c.782A>T	c.(781-783)tAc>tTc	p.Y261F	UGT2B4_ENST00000381096.3_Missense_Mutation_p.Y125F|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_Missense_Mutation_p.Y261F	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	261					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						AAAATCCCAGTAGTTTCGAAT	0.423													A	70359499	T	A	70359499	3	1	449	1	0	0	0	0	1	0	0	0	17063	1638	57	5	824	5	UGT2B4	4	70359499	Missense_Mutation	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08	15207863	70359499	120794777	11	43360											
PDHA2	5161	broad.mit.edu	37	chr4	96761796	96761796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgggggcaatggcatcgtCggtgcacagggccccctggg	6	7	17	11	2	0	0	0	0	0	0	2	0	0	0	2	6	1	3	2	6	2	1			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:96761796C>T	ENST00000295266.4	+	1	558	c.495C>T	c.(493-495)gtC>gtT	p.V165V		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	165					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	ATGGCATCGTCGGTGCACAGG	0.507													T	96761796	C	T	96761796	2	4	449	1	0	0	0	0	0	0	0	1	11741	871	31	1		1	PDHA2	4	96761796	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	26402297	96761796	94392480	12	43361											
CCDC109B	55013	broad.mit.edu	37	chr4	110581443	110581443	+	Frame_Shift_Del	DEL	T	T	-																															aattcgtagtcaaaccaatgTtgtcaacagttggttcattc																										TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:110581443delT	ENST00000394650.4	+	3	401	c.268delT	c.(268-270)ttgfs	p.L90fs	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	90						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		CAAACCAATGTTGTCAACAGT	0.363													-	110581443	T	-	110581443	7	5	449	1	0	1	0	1	0	0	0	0	2771	1722	60	0	278	0	CCDC109B	4	110581443	Frame_Shift_Del	DEL	T	TCGA-E1-A7YI-01A-11D-A34A-08	13819647	110581443	80572833	13	43362											
TBC1D9	23158	broad.mit.edu	37	chr4	141545331	141545331	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttattttctggagtccacAgtctcaaataattacgattt	12	17	5	7	1	2	0	1	0	2	0	4	2	3	1	1	1	1	0	1	1	4	7			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:141545331A>G	ENST00000442267.2	-	20	3091	c.3017T>C	c.(3016-3018)cTg>cCg	p.L1006P		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	1006						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				TGGAGTCCACAGTCTCAAATA	0.358													G	141545331	A	G	141545331	3	3	449	1	0	0	0	0	1	0	0	0	15727	188	7	3	791	3	TBC1D9	4	141545331	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	30963888	141545331	49608945	14	43363											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631929	156631929	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattttctacatgtttactaCttcttccctaagagaaccac	11	15	4	11	0	2	1	0	0	2	1	3	3	3	1	2	0	4	1	2	0	5	9			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr4:156631929C>T	ENST00000296518.7	+	6	821	c.612C>T	c.(610-612)taC>taT	p.Y204Y	GUCY1A3_ENST00000506455.1_Silent_p.Y204Y|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511507.1_Silent_p.Y204Y|GUCY1A3_ENST00000455639.2_Silent_p.Y204Y|GUCY1A3_ENST00000511108.1_Silent_p.Y204Y|GUCY1A3_ENST00000513574.1_Silent_p.Y204Y			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	204					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		ATGTTTACTACTTCTTCCCTA	0.473													T	156631929	C	T	156631929	2	4	449	1	0	0	0	0	0	0	0	1	6949	576	20	2		2	GUCY1A3	4	156631929	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	15086598	156631929	34522347	15	43364											
DNAH5	1767	broad.mit.edu	37	chr5	13762997	13762997	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctcttcattgattgtgTcttttgggaattgctatgga	7	18	9	7	0	4	1	2	1	2	0	4	3	4	3	1	2	1	1	1	2	2	7			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:13762997T>C	ENST00000265104.4	-	60	10219	c.10115A>G	c.(10114-10116)gAc>gGc	p.D3372G	DNAH5_ENST00000504001.3_5'UTR	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3372	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ATTGATTGTGTCTTTTGGGAA	0.368									Kartagener syndrome				C	13762997	T	C	13762997	3	2	449	1	0	0	0	0	1	0	0	0	4643	1667	58	3	3839	3	DNAH5	5	13762997	Missense_Mutation	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08		13762997	167152263	16	43365											
PCDHA1	56147	broad.mit.edu	37	chr5	140167778	140167778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgggcgagatcagcacgactCgtgtcctggacgaggctgac	8	6	15	12	5	1	2	1	1	0	1	3	6	2	3	1	3	1	2	1	3	0	0	rs144781571		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr5:140167778C>T	ENST00000504120.2	+	1	1903	c.1903C>T	c.(1903-1905)Cgt>Tgt	p.R635C	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R635C|PCDHA1_ENST00000394633.3_Intron	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCACGACTCGTGTCCTGGA	0.652													T	140167778	C	T	140167778	3	4	449	1	0	0	0	0	1	0	0	0	11595	884	31	1	1905	1	PCDHA1	5	140167778	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	126404781	140167778	40747482	17	43366											
DAAM2	23500	broad.mit.edu	37	chr6	39828703	39828703	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttttcttattgtctttgcaGgatgaattggatctcactga	8	19	8	6	0	3	2	1	2	3	0	4	4	3	4	0	2	1	1	0	2	2	6			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:39828703G>A	ENST00000538976.1	+	3	350		c.e3-1		DAAM2_ENST00000405961.3_Splice_Site|DAAM2_ENST00000274867.4_Splice_Site|DAAM2_ENST00000494405.1_Splice_Site|DAAM2_ENST00000398904.2_Splice_Site	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2						actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					TGTCTTTGCAGGATGAATTGG	0.448													A	39828703	G	A	39828703	5	1	449	1	0	0	0	0	0	0	1	0	4250	1014	35	2	174	2	DAAM2	6	39828703	Splice_Site	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		39828703	131286364	18	43367											
TREM2	54209	broad.mit.edu	37	chr6	41129082	41129082	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcactggtagagacccgcatCatggggttgtagattccgca	9	9	13	10	2	1	2	1	0	0	2	2	3	2	2	2	3	0	6	2	3	2	4			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129082C>G	ENST00000373113.3	-	2	403	c.310G>C	c.(310-312)Gat>Cat	p.D104H	TREM2_ENST00000338469.3_Missense_Mutation_p.D104H|TREM2_ENST00000373122.4_Missense_Mutation_p.D104H	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	104	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					AGACCCGCATCATGGGGTTGT	0.607													G	41129082	C	G	41129082	3	3	449	1	0	0	0	0	1	0	0	0	16572	826	29	4	398	4	TREM2	6	41129082	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	1300379	41129082	129985985	19	43368											
TREM2	54209	broad.mit.edu	37	chr6	41129257	41129257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggcaccaggccttgcgcctCccccagtgcttcatggagtc	5	8	11	17	2	1	0	1	0	0	0	3	1	2	1	5	3	2	2	5	3	0	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:41129257C>T	ENST00000373113.3	-	2	228	c.135G>A	c.(133-135)ggG>ggA	p.G45G	TREM2_ENST00000338469.3_Silent_p.G45G|TREM2_ENST00000373122.4_Silent_p.G45G	NM_018965.2	NP_061838.1	Q9NZC2	TREM2_HUMAN	triggering receptor expressed on myeloid cells 2	45	Ig-like V-type.				axon guidance|humoral immune response	extracellular region|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	11	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCTTGCGCCTCCCCCAGTGCT	0.652													T	41129257	C	T	41129257	2	4	449	1	0	0	0	0	0	0	0	1	16572	842	30	2		2	TREM2	6	41129257	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	175	41129257	129985810	20	43369											
ENPP5	59084	broad.mit.edu	37	chr6	46135856	46135856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatataatgaaaatggggCgttggaactttatataagta	17	13	9	2	1	0	1	0	1	0	0	0	2	0	2	0	3	1	2	0	3	10	9			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:46135856C>T	ENST00000371383.2	-	3	404	c.144G>A	c.(142-144)acG>acA	p.T48T	ENPP5_ENST00000230565.3_Silent_p.T48T			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	48						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						GAAAATGGGGCGTTGGAACTT	0.353													T	46135856	C	T	46135856	2	4	449	1	0	0	0	0	0	0	0	1	5174	755	27	1		1	ENPP5	6	46135856	Silent	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	5006599	46135856	124979211	21	43370											
POU3F2	5454	broad.mit.edu	37	chr6	99282842	99282842	+	Frame_Shift_Del	DEL	G	G	-																															ggcggcatgcagcagggcgcGgggggctaccgcgaagcgca																										TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr6:99282842delG	ENST00000328345.5	+	1	263	c.93delG	c.(91-93)gcgfs	p.A31fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	31					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AGCAGGGCGCGGGGGGCTACC	0.701													-	99282842	G	-	99282842	7	5	449	1	0	1	0	1	0	0	0	0	12352	1103	39	0	95	0	POU3F2	6	99282842	Frame_Shift_Del	DEL	G	TCGA-E1-A7YI-01A-11D-A34A-08	53146986	99282842	71832225	22	43371											
EEPD1	80820	broad.mit.edu	37	chr7	36194133	36194133	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcacgcagcatcgtggagtAccgagagtatatcggtggct	9	8	15	9	4	0	1	0	0	0	1	2	3	0	2	1	4	2	6	1	4	3	3			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:36194133A>G	ENST00000242108.4	+	2	918	c.200A>G	c.(199-201)tAc>tGc	p.Y67C	EEPD1_ENST00000534978.1_Missense_Mutation_p.Y67C	NM_030636.2	NP_085139.2	Q7L9B9	EEPD1_HUMAN	endonuclease/exonuclease/phosphatase family domain containing 1	67	HhH.				DNA repair		DNA binding			endometrium(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|skin(1)	18						ATCGTGGAGTACCGAGAGTAT	0.582													G	36194133	A	G	36194133	3	3	449	1	0	0	0	0	1	0	0	0	4971	391	14	3	202	3	EEPD1	7	36194133	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08		36194133	122944530	23	43372											
ATG9B	285973	broad.mit.edu	37	chr7	150718390	150718390	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagccaggaccaggaggAggaccagcagcgggctggag	10	1	19	11	2	0	0	0	0	0	0	0	5	0	5	3	7	3	3	3	7	0	0			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr7:150718390A>G	ENST00000605938.1	-	5	923	c.848T>C	c.(847-849)cTc>cCc	p.L283P	ATG9B_ENST00000494791.1_5'UTR|ATG9B_ENST00000444312.1_Missense_Mutation_p.S21P|ATG9B_ENST00000377974.2_Missense_Mutation_p.L283P|ATG9B_ENST00000605952.1_Missense_Mutation_p.L283P	NM_173681.5	NP_775952.4	Q674R7	ATG9B_HUMAN	autophagy related 9B	283					autophagic vacuole assembly	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane				cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(4)|prostate(1)	14	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GACCAGGAGGAGGACCAGCAG	0.627													G	150718390	A	G	150718390	3	3	449	1	0	0	0	0	1	0	0	0	1108	304	11	3	1961	3	ATG9B	7	150718390	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	114524257	150718390	8420273	24	43373											
NEBL	10529	broad.mit.edu	37	chr10	21185916	21185916	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagttccgtgcattttctggCcaattccatgcttaagtctt	7	16	8	10	1	2	0	0	0	2	0	4	1	4	0	3	1	2	3	3	1	2	6			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:21185916C>A	ENST00000377122.4	-	2	520	c.124G>T	c.(124-126)Gcc>Tcc	p.A42S	NEBL_ENST00000377119.1_Missense_Mutation_p.A42S|NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	42					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CATTTTCTGGCCAATTCCATG	0.338													A	21185916	C	A	21185916	3	1	449	1	0	0	0	0	1	0	0	0	10379	739	26	4	3028	4	NEBL	10	21185916	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		21185916	114348831	25	43374											
ARMC3	219681	broad.mit.edu	37	chr10	23326313	23326313	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agggagtgattgggggcctcCccgctcctgagatgtacgtg	6	9	16	10	2	0	2	0	2	0	1	2	4	2	3	4	3	1	2	4	3	1	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:23326313C>T	ENST00000298032.5	+	19	2608	c.2524C>T	c.(2524-2526)Ccc>Tcc	p.P842S	ARMC3_ENST00000409983.3_Missense_Mutation_p.P835S|ARMC3_ENST00000376528.4_Missense_Mutation_p.P579S	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	842							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TGGGGGCCTCCCCGCTCCTGA	0.502													T	23326313	C	T	23326313	3	4	449	1	0	0	0	0	1	0	0	0	957	623	22	2	2594	2	ARMC3	10	23326313	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	2140397	23326313	112208434	26	43375											
GBF1	8729	broad.mit.edu	37	chr10	104103892	104103892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taccactggccctatcactgGactggcactcacctctgtca	8	10	7	16	0	4	0	3	0	1	0	4	1	4	1	3	3	1	1	3	3	2	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:104103892G>A	ENST00000369983.3	+	4	508	c.248G>A	c.(247-249)gGa>gAa	p.G83E		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	83					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		CCTATCACTGGACTGGCACTC	0.468													A	104103892	G	A	104103892	3	1	449	1	0	0	0	0	1	0	0	0	6325	1174	41	2	258	2	GBF1	10	104103892	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	80777579	104103892	31430855	27	43376											
SLC18A2	6571	broad.mit.edu	37	chr10	119012955	119012955	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggattctgcatcatgttTgtctcaacaattagtaagtg	10	14	10	7	1	3	0	2	0	2	0	4	1	3	1	0	1	2	3	0	1	4	4			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr10:119012955T>C	ENST00000298472.5	+	4	653	c.510T>C	c.(508-510)ttT>ttC	p.F170F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	170					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	GCATCATGTTTGTCTCAACAA	0.428													C	119012955	T	C	119012955	2	2	449	1	0	0	0	0	0	0	0	1	14520	1809	63	3		3	SLC18A2	10	119012955	Silent	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08	14909063	119012955	16521792	28	43377											
ST5	6764	broad.mit.edu	37	chr11	8751512	8751512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attacctgctctgggacttgCggtgaccacgcatgtccttc	6	12	10	13	2	1	1	0	1	1	0	3	2	2	2	3	2	3	2	3	2	1	3			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:8751512C>T	ENST00000534127.1	-	6	1710	c.1325G>A	c.(1324-1326)cGc>cAc	p.R442H	ST5_ENST00000526757.1_Intron|ST5_ENST00000530438.1_Intron|ST5_ENST00000357665.1_Missense_Mutation_p.R442H|ST5_ENST00000313726.6_Missense_Mutation_p.R442H	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	442	Interaction with ABL1.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		CTGGGACTTGCGGTGACCACG	0.577													T	8751512	C	T	8751512	3	4	449	1	0	0	0	0	1	0	0	0	15316	768	27	1	2160	1	ST5	11	8751512	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		8751512	126255004	29	43378											
ZC3H12C	85463	broad.mit.edu	37	chr11	110036055	110036055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccttggtggccacgagaataGacagcatctctgactctcga	10	9	10	12	2	2	3	0	1	2	2	4	5	2	3	2	2	1	1	2	2	2	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:110036055G>A	ENST00000453089.2	+	5	3033	c.2152G>A	c.(2152-2154)Gac>Aac	p.D718N	ZC3H12C_ENST00000528673.1_Missense_Mutation_p.D750N|ZC3H12C_ENST00000278590.3_Missense_Mutation_p.D749N			Q9C0D7	ZC12C_HUMAN	zinc finger CCCH-type containing 12C	749							endonuclease activity|nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		all_cancers(61;3.24e-13)|all_epithelial(67;1.27e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.72e-06)|BRCA - Breast invasive adenocarcinoma(274;1.17e-05)|all cancers(92;9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0279)		CACGAGAATAGACAGCATCTC	0.577													A	110036055	G	A	110036055	3	1	449	1	0	0	0	0	1	0	0	0	17664	942	33	2	2267	2	ZC3H12C	11	110036055	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	101284543	110036055	24970461	30	43379											
SIK2	23235	broad.mit.edu	37	chr11	111591740	111591740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggcagaccctaacctggCgccggcggctcctcagctcc	6	5	13	17	3	1	1	1	0	0	1	3	2	3	2	5	5	2	3	5	5	1	1			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:111591740C>T	ENST00000304987.3	+	12	2071	c.1898C>T	c.(1897-1899)gCg>gTg	p.A633V		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	633					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						CCTAACCTGGCGCCGGCGGCT	0.532													T	111591740	C	T	111591740	3	4	449	1	0	0	0	0	1	0	0	0	14412	768	27	1	1944	1	SIK2	11	111591740	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	1555685	111591740	23414776	31	43380											
OR8B2	26595	broad.mit.edu	37	chr11	124252770	124252770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgcacccggtgtgggccGtggctccagccaatcccatt	6	8	12	15	2	0	0	0	0	0	0	2	0	2	0	5	3	2	3	5	3	1	1			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:124252770G>A	ENST00000375013.2	-	1	488	c.470C>T	c.(469-471)aCg>aTg	p.T157M		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	157					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		GGTGTGGGCCGTGGCTCCAGC	0.502													A	124252770	G	A	124252770	3	1	449	1	0	0	0	0	1	0	0	0	11303	1145	40	1	474	1	OR8B2	11	124252770	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	12661030	124252770	10753746	32	43381											
CDON	50937	broad.mit.edu	37	chr11	125867117	125867117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actacctggttctaaactacGaacttccactgaaagtttgg	12	12	7	10	1	1	1	0	1	1	0	2	2	2	1	2	2	4	2	2	2	6	6			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr11:125867117G>A	ENST00000392693.3	-	12	2474	c.2347C>T	c.(2347-2349)Cgt>Tgt	p.R783C	CDON_ENST00000531738.1_Missense_Mutation_p.R160C|CDON_ENST00000263577.7_Missense_Mutation_p.R783C	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	783	Fibronectin type-III 2.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TCTAAACTACGAACTTCCACT	0.403													A	125867117	G	A	125867117	3	1	449	1	0	0	0	0	1	0	0	0	3200	1058	37	1	1483	1	CDON	11	125867117	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	1614347	125867117	9139399	33	43382											
TPH2	121278	broad.mit.edu	37	chr12	72366364	72366364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttggggtgttgtattccGggagctctccaaactctatc	8	13	10	10	1	2	0	0	0	2	0	5	1	3	1	2	3	3	3	2	3	4	5	rs139896303		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:72366364G>A	ENST00000333850.3	+	6	815	c.674G>A	c.(673-675)cGg>cAg	p.R225Q		NM_173353.3	NP_775489.2	Q8IWU9	TPH2_HUMAN	tryptophan hydroxylase 2	225					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	41					L-Tryptophan(DB00150)	GTTGTATTCCGGGAGCTCTCC	0.453													A	72366364	G	A	72366364	3	1	449	1	0	0	0	0	1	0	0	0	16503	1116	39	1	696	1	TPH2	12	72366364	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		72366364	61485531	34	43383											
MYBPC1	4604	broad.mit.edu	37	chr12	102023226	102023226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcagactggacccttgtcGaaactcctcctggggaggaa	10	8	11	12	1	1	1	1	0	0	1	4	5	3	4	3	4	1	0	3	4	2	1			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr12:102023226G>A	ENST00000549145.1	+	5	257	c.157G>A	c.(157-159)Gaa>Aaa	p.E53K	MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000541119.1_Missense_Mutation_p.E28K|MYBPC1_ENST00000551300.1_5'UTR|MYBPC1_ENST00000361685.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000360610.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000547405.1_Missense_Mutation_p.E14K|MYBPC1_ENST00000392934.3_Missense_Mutation_p.E27K|MYBPC1_ENST00000547509.1_Missense_Mutation_p.E26K|MYBPC1_ENST00000452455.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000550270.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000361466.2_Missense_Mutation_p.E65K|MYBPC1_ENST00000441232.1_Missense_Mutation_p.E40K|MYBPC1_ENST00000545503.2_Missense_Mutation_p.E40K|MYBPC1_ENST00000553190.1_Missense_Mutation_p.E40K			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	40					cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GACCCTTGTCGAAACTCCTCC	0.483													A	102023226	G	A	102023226	3	1	449	1	0	0	0	0	1	0	0	0	10087	1059	37	1	215	1	MYBPC1	12	102023226	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	29656862	102023226	31828669	35	43384											
MARK3	4140	broad.mit.edu	37	chr14	103915254	103915254	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgtttgtttttttttttAgctcttcagagaagtaagaa	9	22	7	3	0	2	2	1	0	1	2	2	3	2	2	0	0	1	4	0	0	4	11			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr14:103915254A>T	ENST00000429436.2	+	4	807		c.e4-1		MARK3_ENST00000561071.1_Splice_Site|MARK3_ENST00000416682.2_Splice_Site|MARK3_ENST00000216288.7_Splice_Site|MARK3_ENST00000553942.1_Splice_Site|MARK3_ENST00000303622.9_Splice_Site|MARK3_ENST00000335102.5_Splice_Site|MARK3_ENST00000440884.3_Splice_Site	NM_001128918.1|NM_001128919.1	NP_001122390.1|NP_001122391.1	P27448	MARK3_HUMAN	MAP/microtubule affinity-regulating kinase 3								ATP binding|protein binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30		Melanoma(154;0.155)	Epithelial(46;0.241)			TTTTTTTTTTAGCTCTTCAGA	0.259													T	103915254	A	T	103915254	5	4	449	1	0	0	0	0	0	0	1	0	9389	434	15	5	310	5	MARK3	14	103915254	Splice_Site	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08		103915254	3434286	36	43385											
SPTBN5	51332	broad.mit.edu	37	chr15	42170651	42170652	+	Frame_Shift_Del	DEL	CT	CT	-																															tgcgcagctgagcctggacaCtctctgcccacagtagcagt																										TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:42170651_42170652delCT	ENST00000320955.6	-	17	3585_3586	c.3358_3359delAG	c.(3358-3360)agtfs	p.S1120fs		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1120					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		AGCCTGGACACTCTCTGCCCAC	0.639													-	42170652	CT	-	42170651	7	5	449	1	0	1	0	1	0	0	0	0	15218	565	20	0	7873	0	SPTBN5	15	42170651	Frame_Shift_Del	DEL	CT	TCGA-E1-A7YI-01A-11D-A34A-08		42170651	60360741	37	43386											
DMXL2	23312	broad.mit.edu	37	chr15	51750758	51750758	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtatgactgacaggccaGtagagaagtaacatcaagtt	15	10	10	6	0	1	3	1	2	0	1	1	4	1	3	1	1	1	4	1	1	6	5			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:51750758G>C	ENST00000251076.5	-	35	8364	c.8077C>G	c.(8077-8079)Ctg>Gtg	p.L2693V	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000449909.3_Missense_Mutation_p.L2057V|RP11-707P17.2_ENST00000559977.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.L2694V|RP11-707P17.2_ENST00000559173.1_RNA|RP11-707P17.2_ENST00000560727.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2693						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGACAGGCCAGTAGAGAAGTA	0.348													C	51750758	G	C	51750758	3	2	449	1	0	0	0	0	1	0	0	0	4634	1020	36	4	1069	4	DMXL2	15	51750758	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	9580107	51750758	50780634	38	43387											
CYP11A1	1583	broad.mit.edu	37	chr15	74632093	74632093	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccactgcagggtcatggacGtctggtggggagtagggtat	7	9	18	7	1	2	0	1	0	1	0	2	2	2	2	1	6	1	3	1	6	2	2	rs139449608		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr15:74632093G>A	ENST00000358632.4	-	6	1213	c.518C>T	c.(517-519)aCg>aTg	p.T173M	CYP11A1_ENST00000268053.6_Splice_Site_p.T331M|CYP11A1_ENST00000541301.1_3'UTR|CYP11A1_ENST00000419019.2_Splice_Site_p.T173M	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	331					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GGTCATGGACGTCTGGTGGGG	0.582													A	74632093	G	A	74632093	5	1	449	1	0	0	0	0	0	0	1	0	4177	1159	40	1	589	1	CYP11A1	15	74632093	Splice_Site	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	22881335	74632093	27899299	39	43388											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			A	7577022	G	A	7577022	4	1	449	1	0	0	0	0	0	1	0	0	16482	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		7577022	73618188	40	43389											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	449	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	99	7577121	73618089	41	43390											
CHD3	1107	broad.mit.edu	37	chr17	7814264	7814264	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggcgccaattacagcCagatgcctgcagggtccttc	8	7	11	15	2	0	1	0	0	0	1	2	1	1	1	5	2	4	2	5	2	2	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:7814264C>T	ENST00000380358.4	+	39	6032	c.6031C>T	c.(6031-6033)Cag>Tag	p.Q2011*	CHD3_ENST00000330494.7_Nonsense_Mutation_p.Q1952*|CHD3_ENST00000358181.4_Nonsense_Mutation_p.Q1918*	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1952					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				CAATTACAGCCAGATGCCTGC	0.642													T	7814264	C	T	7814264	4	4	449	1	0	0	0	0	0	1	0	0	3356	595	21	2	6289	2	CHD3	17	7814264	Nonsense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	237143	7814264	73380946	42	43391											
SHMT1	6470	broad.mit.edu	37	chr17	18233958	18233958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctttggaacggagatccAcaaggatcaaatggttgtca	12	10	11	8	1	2	1	2	0	0	1	3	4	3	3	2	4	2	1	2	4	3	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:18233958A>G	ENST00000316694.3	-	10	1216	c.1082T>C	c.(1081-1083)gTg>gCg	p.V361A	SHMT1_ENST00000352886.6_Missense_Mutation_p.V281A|SHMT1_ENST00000354098.3_Missense_Mutation_p.V322A|SHMT1_ENST00000539052.1_Missense_Mutation_p.V223A	NM_004169.3	NP_004160.3	P34896	GLYC_HUMAN	serine hydroxymethyltransferase 1 (soluble)	361					carnitine biosynthetic process|folic acid metabolic process|L-serine catabolic process|one-carbon metabolic process|purine base biosynthetic process	cytosol|nucleus	glycine hydroxymethyltransferase activity|protein homodimerization activity|pyridoxal phosphate binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)	13					Glycine(DB00145)|Mimosine(DB01055)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	ACGGAGATCCACAAGGATCAA	0.478													G	18233958	A	G	18233958	3	3	449	1	0	0	0	0	1	0	0	0	14379	159	6	3	381	3	SHMT1	17	18233958	Missense_Mutation	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	10419694	18233958	62961252	43	43392											
KRT13	3860	broad.mit.edu	37	chr17	39658985	39658985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccaggccttggagcgtgCgcctgagctccgtgatctct	4	11	12	14	3	2	2	0	2	2	0	5	3	3	3	4	2	3	1	4	2	0	1			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr17:39658985C>T	ENST00000246635.3	-	5	1023	c.977G>A	c.(976-978)cGc>cAc	p.R326H	KRT13_ENST00000336861.3_Missense_Mutation_p.R326H|KRT13_ENST00000587544.1_Missense_Mutation_p.R326H	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	326	Coil 2.|Rod.				epidermis development	intermediate filament	structural molecule activity	p.R326H(1)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				TTGGAGCGTGCGCCTGAGCTC	0.577													T	39658985	C	T	39658985	3	4	449	1	0	0	0	0	1	0	0	0	8508	768	27	1	415	1	KRT13	17	39658985	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	21425027	39658985	41536225	44	43393											
TYK2	7297	broad.mit.edu	37	chr19	10464804	10464804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcctgcttccagcccgagCggtgctgggggccgcagtct	3	9	14	15	3	2	0	0	0	2	0	4	1	3	0	4	3	4	3	4	3	0	1			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:10464804C>T	ENST00000525621.1	-	20	3303	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	TYK2_ENST00000264818.6_Missense_Mutation_p.R941H|TYK2_ENST00000524462.1_Missense_Mutation_p.R756H	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	941	Protein kinase 2.				intracellular protein kinase cascade|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytoskeleton|cytosol|membrane|nucleus	ATP binding|growth hormone receptor binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			CCAGCCCGAGCGGTGCTGGGG	0.622													T	10464804	C	T	10464804	3	4	449	1	0	0	0	0	1	0	0	0	16912	768	27	1	765	1	TYK2	19	10464804	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		10464804	48664179	45	43394											
FCGBP	8857	broad.mit.edu	37	chr19	40354340	40354340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatcattggtctggtcccCgtcaaagtttccacaggccc	8	10	8	15	1	3	0	2	0	1	0	5	0	5	0	5	3	0	1	5	3	2	2			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:40354340C>T	ENST00000221347.6	-	35	16136	c.16129G>A	c.(16129-16131)Ggg>Agg	p.G5377R		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5377	VWFD 13.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GTCTGGTCCCCGTCAAAGTTT	0.557													T	40354340	C	T	40354340	3	4	449	1	0	0	0	0	1	0	0	0	5827	652	23	1	96	1	FCGBP	19	40354340	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	29889536	40354340	18774643	46	43395											
NLRP5	126206	broad.mit.edu	37	chr19	56539151	56539151	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcgaggcgtggtccggCgctgtctcaatctggaggaa	6	8	14	13	4	2	0	1	0	2	0	5	3	3	2	3	5	0	1	3	5	2	0			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr19:56539151C>T	ENST00000390649.3	+	7	1552	c.1552C>T	c.(1552-1554)Cgc>Tgc	p.R518C		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	518	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTGGTCCGGCGCTGTCTCAA	0.592													T	56539151	C	T	56539151	3	4	449	1	0	0	0	0	1	0	0	0	10556	768	27	1	1578	1	NLRP5	19	56539151	Missense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08	16184811	56539151	2589832	47	43396											
REM1	28954	broad.mit.edu	37	chr20	30064294	30064294	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagacccctctgcaccggCgagccagcaccccactgccc	9	3	8	21	2	1	1	0	0	1	1	1	2	1	1	7	1	4	2	7	1	1	0			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr20:30064294C>T	ENST00000201979.2	+	2	339	c.46C>T	c.(46-48)Cga>Tga	p.R16*	DEFB124_ENST00000481595.1_Intron	NM_014012.4	NP_054731.2	O75628	REM1_HUMAN	RAS (RAD and GEM)-like GTP-binding 1	16					small GTPase mediated signal transduction	membrane	calmodulin binding|GTP binding|GTPase activity	p.R16R(1)		kidney(3)|large_intestine(3)|lung(14)|pancreas(2)|upper_aerodigestive_tract(1)	23	all_cancers(5;0.000119)|Lung NSC(7;1.32e-05)|all_lung(7;2.14e-05)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			TCTGCACCGGCGAGCCAGCAC	0.617													T	30064294	C	T	30064294	4	4	449	1	0	0	0	0	0	1	0	0	13310	760	27	1	48	1	REM1	20	30064294	Nonsense_Mutation	SNP	C	TCGA-E1-A7YI-01A-11D-A34A-08		30064294	32961226	48	43397											
HIC2	23119	broad.mit.edu	37	chr22	21800304	21800304	+	Frame_Shift_Del	DEL	C	C	-																															agggggtcggggacagggttCccaatggcatcctggctagt																										TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chr22:21800304delC	ENST00000443632.2	+	2	1492	c.1120delC	c.(1120-1122)cccfs	p.P374fs	HIC2_ENST00000407464.2_Frame_Shift_Del_p.P374fs|HIC2_ENST00000407598.2_Frame_Shift_Del_p.P374fs			Q96JB3	HIC2_HUMAN	hypermethylated in cancer 2	374					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	focal adhesion|nucleus	DNA binding|protein C-terminus binding|zinc ion binding			NS(1)|endometrium(4)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Melanoma(16;0.000465)|Ovarian(15;0.00438)|Colorectal(54;0.0968)	Lung SC(17;0.0262)|all_lung(157;0.205)				GGACAGGGTTCCCAATGGCAT	0.667													-	21800304	C	-	21800304	7	5	449	1	0	1	0	1	0	0	0	0	7157	855	30	0	1126	0	HIC2	22	21800304	Frame_Shift_Del	DEL	C	TCGA-E1-A7YI-01A-11D-A34A-08		21800304	29504262	49	43398											
EFNB1	1947	broad.mit.edu	37	chrX	68060348	68060348	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtggcacagcgggcaccGagcccagcgacatcatcatt	10	5	12	14	3	2	0	2	0	0	0	2	2	2	0	2	2	3	3	2	2	0	1			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:68060348G>A	ENST00000204961.4	+	5	1672	c.892G>A	c.(892-894)Gag>Aag	p.E298K		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	298					cell adhesion|cell-cell signaling	integral to plasma membrane|soluble fraction|synapse	ephrin receptor binding			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCGGGCACCGAGCCCAGCGA	0.627													A	68060348	G	A	68060348	3	1	449	1	0	0	0	0	1	0	0	0	4994	1059	37	1	910	1	EFNB1	23	68060348	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08		68060348	87210212	50	43399											
ATRX	546	broad.mit.edu	37	chrX	76909647	76909647	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgccttttctttttctgttTatagctccgctgattttctt	3	23	5	10	2	3	1	0	1	3	0	5	1	4	1	2	0	1	3	2	0	2	10			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:76909647T>A	ENST00000373344.5	-	14	4472	c.4258A>T	c.(4258-4260)Aaa>Taa	p.K1420*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K1382*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					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)	TTTTTCTGTTTATAGCTCCGC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909647	T	A	76909647	4	1	449	1	0	0	0	0	0	1	0	0	1213	1763	61	5	3308	5	ATRX	23	76909647	Nonsense_Mutation	SNP	T	TCGA-E1-A7YI-01A-11D-A34A-08	8849299	76909647	78360913	51	43400											
NXF5	55998	broad.mit.edu	37	chrX	101092592	101092592	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagtccacgtttcgtggAcattttgtgtgctttagcag	7	14	13	7	2	0	0	0	0	0	0	2	2	1	2	1	2	2	3	1	2	1	5			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:101092592A>G	ENST00000537026.1	-	15	1313	c.954T>C	c.(952-954)tgT>tgC	p.C318C	NXF5_ENST00000361708.2_Silent_p.C318C|NXF5_ENST00000473265.2_Silent_p.C318C	NM_032946.2	NP_116564.2	Q9H1B4	NXF5_HUMAN	nuclear RNA export factor 5	318	NTF2; truncated.				mRNA export from nucleus|multicellular organismal development	actin cytoskeleton|cytoplasm|nucleus	nucleocytoplasmic transporter activity|nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|skin(1)	30						CGTTTCGTGGACATTTTGTGT	0.537													G	101092592	A	G	101092592	2	3	449	1	0	0	0	0	0	0	0	1	10862	273	10	3		3	NXF5	23	101092592	Silent	SNP	A	TCGA-E1-A7YI-01A-11D-A34A-08	24182945	101092592	54177968	52	43401											
UTP14A	10813	broad.mit.edu	37	chrX	129060301	129060301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgagaagcgcaacatccacGcagctgctcatcaggtgaga	13	6	11	11	2	2	2	2	2	0	2	3	4	3	2	1	1	4	4	1	1	2	0			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:129060301G>A	ENST00000394422.3	+	14	2057	c.2029G>A	c.(2029-2031)Gca>Aca	p.A677T	UTP14A_ENST00000425117.2_Missense_Mutation_p.A625T|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000371051.5_Missense_Mutation_p.A623T|UTP14A_ENST00000371042.3_Missense_Mutation_p.A509T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	677					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CAACATCCACGCAGCTGCTCA	0.453											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	129060301	G	A	129060301	3	1	449	1	0	0	0	0	1	0	0	0	17197	1087	38	1	2083	1	UTP14A	23	129060301	Missense_Mutation	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	27967709	129060301	26210259	53	43402											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-E1-A7YI-01A-11D-A34A-08	TCGA-E1-A7YI-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a43c97f-00b5-408e-82d2-793715d95569	2ee07ad5-b260-42a7-a26e-9681e0509e26	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	449	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-E1-A7YI-01A-11D-A34A-08	21096059	150156360	5114200	54	43403											
EPHB2	2048	broad.mit.edu	37	chr1	23110996	23110996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacggaccaagtttatccggCgccgtggcgcccaccgcatc	7	7	11	16	6	0	0	0	0	0	0	2	1	1	1	5	3	1	2	5	3	3	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:23110996C>T	ENST00000400191.3	+	3	256	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C	EPHB2_ENST00000544305.1_Missense_Mutation_p.R80C|EPHB2_ENST00000374627.1_Missense_Mutation_p.R74C|EPHB2_ENST00000374630.3_Missense_Mutation_p.R80C|EPHB2_ENST00000374632.3_Missense_Mutation_p.R80C	NM_004442.6|NM_017449.3	NP_004433.2|NP_059145.2	P29323	EPHB2_HUMAN	EPH receptor B2	80					axon guidance	integral to plasma membrane	ATP binding|transmembrane-ephrin receptor activity			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(8)|stomach(1)|urinary_tract(1)	56		Colorectal(325;3.46e-05)|Lung NSC(340;3.7e-05)|all_lung(284;5.45e-05)|Renal(390;0.000228)|Breast(348;0.0027)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0258)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0348)|OV - Ovarian serous cystadenocarcinoma(117;3.67e-26)|Colorectal(126;3.23e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|GBM - Glioblastoma multiforme(114;2.93e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000606)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.126)|Lung(427;0.153)		GTTTATCCGGCGCCGTGGCGC	0.577													T	23110996	C	T	23110996	3	4	450	1	0	0	0	0	1	0	0	0	5216	768	27	1	248	1	EPHB2	1	23110996	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		23110996	226139625	1	43404											
FAM167B	84734	broad.mit.edu	37	chr1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagagccaggcctggcGcagggcccaagccaaacctg	9	3	14	15	1	0	1	0	0	0	1	1	1	1	1	6	4	3	1	6	4	2	0			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637													A	32713189	G	A	32713189	3	1	450	1	0	0	0	0	1	0	0	0	5529	1087	38	1	169	1	FAM167B	1	32713189	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	9602193	32713189	216537432	2	43405											
C8A	731	broad.mit.edu	37	chr1	57347157	57347157	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgctcagagtgtgtaCgatgccagttattatggggg	10	11	15	5	1	1	2	1	0	0	2	1	4	1	2	1	2	3	3	1	2	4	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:57347157C>T	ENST00000361249.3	+	5	600	c.504C>T	c.(502-504)taC>taT	p.Y168Y		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	168	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						AGAGTGTGTACGATGCCAGTT	0.473													T	57347157	C	T	57347157	2	4	450	1	0	0	0	0	0	0	0	1	2440	547	19	1		1	C8A	1	57347157	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	24633968	57347157	191903464	3	43406											
HMCN1	83872	broad.mit.edu	37	chr1	185985120	185985120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgaaggcaacttggccaCgcctttgaataagcaagtag	13	9	11	8	1	0	2	0	2	0	0	0	3	0	2	2	2	2	3	2	2	6	5			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:185985120C>T	ENST00000271588.4	+	32	5169	c.4940C>T	c.(4939-4941)aCg>aTg	p.T1647M	HMCN1_ENST00000367492.2_Missense_Mutation_p.T1647M	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1647	Ig-like C2-type 14.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AACTTGGCCACGCCTTTGAAT	0.403													T	185985120	C	T	185985120	3	4	450	1	0	0	0	0	1	0	0	0	7275	536	19	1	5066	1	HMCN1	1	185985120	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	128637963	185985120	63265501	4	43407											
CRB1	23418	broad.mit.edu	37	chr1	197313560	197313560	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacactgatgagtgtgccAgtcaaccttgtctccatgga	10	11	9	11	0	3	2	2	2	1	0	4	3	3	3	3	1	3	0	3	1	2	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr1:197313560A>C	ENST00000367400.3	+	3	937	c.802A>C	c.(802-804)Agt>Cgt	p.S268R	CRB1_ENST00000538660.1_Missense_Mutation_p.S268R|CRB1_ENST00000535699.1_Missense_Mutation_p.S199R|CRB1_ENST00000367399.2_Intron|CRB1_ENST00000543483.1_5'UTR	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs homolog 1 (Drosophila)	268	EGF-like 7; calcium-binding (Potential).				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						TGAGTGTGCCAGTCAACCTTG	0.512													C	197313560	A	C	197313560	3	2	450	1	0	0	0	0	1	0	0	0	3879	188	7	5	812	5	CRB1	1	197313560	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	11328440	197313560	51937061	5	43408											
OTOF	9381	broad.mit.edu	37	chr2	26700046	26700046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttgggccgcacctcgtcCgccaggaagcgcagcttctg	5	7	12	17	4	1	0	0	0	1	0	3	1	2	1	5	2	2	3	5	2	1	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:26700046C>T	ENST00000272371.2	-	21	2643	c.2517G>A	c.(2515-2517)gcG>gcA	p.A839A	OTOF_ENST00000402415.3_Silent_p.A149A|OTOF_ENST00000339598.3_Silent_p.A92A|OTOF_ENST00000403946.3_Silent_p.A839A|OTOF_ENST00000338581.6_Silent_p.A92A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	839					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCACCTCGTCCGCCAGGAAGC	0.677													T	26700046	C	T	26700046	2	4	450	1	0	0	0	0	0	0	0	1	11379	639	23	1		1	OTOF	2	26700046	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		26700046	216499327	6	43409											
GCC2	9648	broad.mit.edu	37	chr2	109086787	109086790	+	Frame_Shift_Del	DEL	CAAA	CAAA	-																															caagtagtaaatgaaaaagtCaaacacttagaagatacctt																										TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:109086787_109086790delCAAA	ENST00000309863.6	+	6	1716_1719	c.1002_1005delCAAA	c.(1000-1005)gtcaaafs	p.VK334fs		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	334					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						ATGAAAAAGTCAAACACTTAGAAG	0.294													-	109086790	CAAA	-	109086787	7	5	450	1	0	1	0	1	0	0	0	0	6340	813	29	0	1024	0	GCC2	2	109086787	Frame_Shift_Del	DEL	CAAA	TCGA-E1-A7YJ-01A-11D-A34A-08	82386741	109086787	134112586	7	43410											
FAP	2191	broad.mit.edu	37	chr2	163030242	163030242	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaacacttaccttatagtgCtcaagattatcatcctttgt	12	15	5	9	0	2	1	2	0	0	1	3	2	3	1	2	0	3	1	2	0	6	5			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:163030242C>G	ENST00000188790.4	-	23	2232	c.2025G>C	c.(2023-2025)gaG>gaC	p.E675D	FAP_ENST00000443424.1_Missense_Mutation_p.E650D	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	675					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						CCTTATAGTGCTCAAGATTAT	0.299													G	163030242	C	G	163030242	3	3	450	1	0	0	0	0	1	0	0	0	5722	796	28	4	273	4	FAP	2	163030242	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	53943455	163030242	80169131	8	43411											
TTN	7273	broad.mit.edu	37	chr2	179500730	179500730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacactccaggttgttggcGttttccacagtaactgtgta	9	13	10	9	1	0	0	0	0	0	0	2	1	2	0	2	2	2	5	2	2	3	6			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:179500730G>A	ENST00000589042.1	-	226	41792	c.41568C>T	c.(41566-41568)aaC>aaT	p.N13856N	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.N4983N|TTN_ENST00000359218.5_Silent_p.N4916N|TTN_ENST00000460472.2_Silent_p.N4791N|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342992.6_Silent_p.N11288N|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.N12215N|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12215							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTGTTGGCGTTTTCCACAG	0.453													A	179500730	G	A	179500730	2	1	450	1	0	0	0	0	0	0	0	1	16837	1136	40	1		1	TTN	2	179500730	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	16470488	179500730	63698643	9	43412											
AOX1	316	broad.mit.edu	37	chr2	201478598	201478598	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctcccttttgggctcggCgccaggtgggaaagtggagt	6	10	16	9	2	1	0	0	0	1	0	3	2	1	2	2	5	0	1	2	5	1	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:201478598C>T	ENST00000374700.2	+	15	1761	c.1520C>T	c.(1519-1521)gCg>gTg	p.A507V	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	507					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.A507V(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTGGGCTCGGCGCCAGGTGGG	0.473													T	201478598	C	T	201478598	3	4	450	1	0	0	0	0	1	0	0	0	731	768	27	1	1578	1	AOX1	2	201478598	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	21977868	201478598	41720775	10	43413											
CXCR1	3577	broad.mit.edu	37	chr2	219029011	219029011	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatggcgaaaattttggccGatgaaggcgtagatgatggg	11	9	15	6	3	0	3	0	2	0	1	0	5	0	3	2	4	0	1	2	4	4	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr2:219029011G>A	ENST00000295683.2	-	2	1044	c.924C>T	c.(922-924)atC>atT	p.I308I		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	308					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AATTTTGGCCGATGAAGGCGT	0.537													A	219029011	G	A	219029011	2	1	450	1	0	0	0	0	0	0	0	1	4123	1048	37	1		1	CXCR1	2	219029011	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	17550413	219029011	24170362	11	43414											
NBEAL2	23218	broad.mit.edu	37	chr3	47040555	47040555	+	Frame_Shift_Del	DEL	C	C	-																															gaacctcgaagtgctactggCcctgctagtgcggccagggt																										TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:47040555delC	ENST00000450053.3	+	24	3670	c.3491delC	c.(3490-3492)gccfs	p.A1164fs	NBEAL2_ENST00000383740.2_5'UTR|NBEAL2_ENST00000292309.5_Intron	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	1164	Leu-rich.						binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGCTACTGGCCCTGCTAGTG	0.662											OREG0015546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	47040555	C	-	47040555	7	5	450	1	0	1	0	1	0	0	0	0	10265	739	26	0	3585	0	NBEAL2	3	47040555	Frame_Shift_Del	DEL	C	TCGA-E1-A7YJ-01A-11D-A34A-08		47040555	150981875	12	43415											
CCDC39	339829	broad.mit.edu	37	chr3	180359940	180359940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttactgtgaagcatttctCgagtacgcttaacttcaagt	10	14	7	10	2	2	1	1	1	1	0	3	2	2	1	1	0	4	3	1	0	5	5			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr3:180359940C>T	ENST00000273654.4	-	19	2586	c.1967G>A	c.(1966-1968)cGa>cAa	p.R656Q	CCDC39_ENST00000442201.2_Missense_Mutation_p.R572Q			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	572					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AAGCATTTCTCGAGTACGCTT	0.323													T	180359940	C	T	180359940	3	4	450	1	0	0	0	0	1	0	0	0	2838	884	31	1	1142	1	CCDC39	3	180359940	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	133319385	180359940	17662490	13	43416											
SULT1E1	6783	broad.mit.edu	37	chr4	70709895	70709895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctttctcatgaagggCgacaatttctggttcataat	10	14	7	10	1	4	1	3	1	2	0	5	2	4	1	1	2	0	1	1	2	3	4			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATGAAGGGCGACAATTTCT	0.393													T	70709895	C	T	70709895	2	4	450	1	0	0	0	0	0	0	0	1	15476	755	27	1		1	SULT1E1	4	70709895	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		70709895	120444381	14	43417											
PTPN13	5783	broad.mit.edu	37	chr4	87696751	87696751	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggaatgaccttggaggAagttaacagagcattagaca	17	7	11	6	0	0	3	0	1	0	2	0	6	0	6	1	3	2	2	1	3	5	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:87696751A>T	ENST00000436978.1	+	35	6332	c.5852A>T	c.(5851-5853)gAa>gTa	p.E1951V	PTPN13_ENST00000427191.2_Missense_Mutation_p.E1927V|PTPN13_ENST00000411767.2_Missense_Mutation_p.E1946V|PTPN13_ENST00000316707.6_Missense_Mutation_p.E1755V|PTPN13_ENST00000511467.1_Missense_Mutation_p.E1951V	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1946	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		ACCTTGGAGGAAGTTAACAGA	0.418													T	87696751	A	T	87696751	3	4	450	1	0	0	0	0	1	0	0	0	12868	246	9	5	5986	5	PTPN13	4	87696751	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	16986856	87696751	103457525	15	43418											
SFRP2	6423	broad.mit.edu	37	chr4	154702729	154702729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccatgaccagatagggcgcGttgatgtcgttcatctcctc	7	11	10	13	3	2	3	1	2	1	1	5	3	2	3	3	1	0	2	3	1	1	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:154702729G>A	ENST00000274063.4	-	3	1046	c.762C>T	c.(760-762)aaC>aaT	p.N254N		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	254	NTR.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GATAGGGCGCGTTGATGTCGT	0.557													A	154702729	G	A	154702729	2	1	450	1	0	0	0	0	0	0	0	1	14255	1136	40	1		1	SFRP2	4	154702729	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	67005978	154702729	36451547	16	43419											
FGA	2243	broad.mit.edu	37	chr4	155505468	155505468	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataccaccagcctcccccAtagacttctgcacagttctc	9	11	4	17	0	2	1	0	0	2	1	4	1	3	1	5	0	3	2	5	0	3	5			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr4:155505468A>G	ENST00000302053.3	-	6	2487	c.2409T>C	c.(2407-2409)taT>taC	p.Y803Y		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	803	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AGCCTCCCCCATAGACTTCTG	0.507													G	155505468	A	G	155505468	2	3	450	1	0	0	0	0	0	0	0	1	5879	224	8	3		3	FGA	4	155505468	Silent	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	802739	155505468	35648808	17	43420											
SLC12A7	10723	broad.mit.edu	37	chr5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG																															tgcagggcctccccgaacctINSgcaggcaggcgggcaggcgg																										TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						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)	TCCCCGAACCTgcaggcaggcg	0.673													GCAG	1078125	-	GCAG	1078124	8	5	450	1	0	1	1	0	0	0	1	0	14482	1594	55	0	1850	0	SLC12A7	5	1078124	Splice_Site	INS	-	TCGA-E1-A7YJ-01A-11D-A34A-08		1078124	179837136	18	43421											
PRDM9	56979	broad.mit.edu	37	chr5	23522420	23522420	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctccaacctagaactcagGaagaaggagactgaaagaaa	18	6	9	8	0	2	5	1	1	1	4	3	7	2	6	2	2	2	0	2	2	7	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:23522420G>A	ENST00000296682.3	+	7	698	c.516G>A	c.(514-516)agG>agA	p.R172R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	172					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TAGAACTCAGGAAGAAGGAGA	0.428										HNSCC(3;0.000094)			A	23522420	G	A	23522420	2	1	450	1	0	0	0	0	0	0	0	1	12549	1165	41	2		2	PRDM9	5	23522420	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	22444296	23522420	157392840	19	43422											
DHX29	54505	broad.mit.edu	37	chr5	54586064	54586064	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctctttgaaatttccttaTtttttcctgagcctcttttt	6	22	3	10	0	2	2	0	2	2	0	4	2	4	2	4	0	1	0	4	0	2	8			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:54586064T>C	ENST00000251636.5	-	7	1037	c.889A>G	c.(889-891)Ata>Gta	p.I297V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	297							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AATTTCCTTATTTTTTCCTGA	0.358													C	54586064	T	C	54586064	3	2	450	1	0	0	0	0	1	0	0	0	4542	1493	52	3	3304	3	DHX29	5	54586064	Missense_Mutation	SNP	T	TCGA-E1-A7YJ-01A-11D-A34A-08	31063644	54586064	126329196	20	43423											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712441	140712441	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctacaggcttcgggaggCggcttagcgagcatgcccgg	6	7	16	12	4	0	0	0	0	0	0	1	2	0	1	1	5	5	4	1	5	2	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr5:140712441C>T	ENST00000517417.1	+	1	2190	c.2190C>T	c.(2188-2190)ggC>ggT	p.G730G	PCDHGA1_ENST00000378105.3_Silent_p.G730G	NM_018912.2	NP_061735.1												p.G730G(4)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTTCGGGAGGCGGCTTAGCGA	0.662													T	140712441	C	T	140712441	2	4	450	1	0	0	0	0	0	0	0	1	11626	755	27	1		1	PCDHGA1	5	140712441	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	86126377	140712441	40202819	21	43424											
BPHL	670	broad.mit.edu	37	chr6	3140630	3140630	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatccgtcaggtaacatctgCcggcacctgctgccccgggt	6	9	11	15	3	2	0	1	0	1	0	3	0	3	0	5	3	4	3	5	3	2	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:3140630C>T	ENST00000380375.3	+	7	1268	c.624C>T	c.(622-624)tgC>tgT	p.C208C	RP1-40E16.11_ENST00000447644.1_RNA|BPHL_ENST00000434640.1_Silent_p.C208C|BPHL_ENST00000380379.5_Silent_p.C225C|BPHL_ENST00000380368.2_3'UTR			Q86WA6	BPHL_HUMAN	biphenyl hydrolase-like (serine hydrolase)	225					cellular amino acid metabolic process|response to toxin	mitochondrion	hydrolase activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)	13	Ovarian(93;0.0386)	all_hematologic(90;0.108)				GTAACATCTGCCGGCACCTGC	0.587													T	3140630	C	T	3140630	2	4	450	1	0	0	0	0	0	0	0	1	1498	747	26	2		2	BPHL	6	3140630	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		3140630	167974437	22	43425											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716													G	45390482	C	G	45390482	3	3	450	1	0	0	0	0	1	0	0	0	13839	711	25	4	233	4	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	42249852	45390482	125724585	23	43426											
LPA	4018	broad.mit.edu	37	chr6	161015068	161015068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgacatgtccttcctgtgAcagtggtagagaatgagcct	10	11	11	9	0	0	4	0	3	0	1	2	5	2	4	3	1	1	1	3	1	2	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr6:161015068A>G	ENST00000447678.1	-	23	3671	c.3551T>C	c.(3550-3552)gTc>gCc	p.V1184A	LPA_ENST00000316300.5_Missense_Mutation_p.V1184A	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3692	Kringle 11.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	CCTTCCTGTGACAGTGGTAGA	0.478													G	161015068	A	G	161015068	3	3	450	1	0	0	0	0	1	0	0	0	8973	275	10	3	2643	3	LPA	6	161015068	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	115624586	161015068	10099999	24	43427											
CRHR2	1395	broad.mit.edu	37	chr7	30721825	30721825	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggtggcccccagccgtcCaagagcagctcttcagccag	8	5	13	15	1	2	1	1	0	1	1	3	1	3	1	5	3	4	2	5	3	1	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:30721825C>A	ENST00000471646.1	-	1	489	c.72G>T	c.(70-72)ttG>ttT	p.L24F	CRHR2_ENST00000506074.2_Missense_Mutation_p.L24F|CRHR2_ENST00000341843.4_Intron|CRHR2_ENST00000348438.4_Intron	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	24					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCAGCCGTCCAAGAGCAGCT	0.736													A	30721825	C	A	30721825	3	1	450	1	0	0	0	0	1	0	0	0	3903	593	21	4	1211	4	CRHR2	7	30721825	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		30721825	128416838	25	43428											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221710	C	T	55221710	3	4	450	1	0	0	0	0	1	0	0	0	5006	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	24499885	55221710	103916953	26	43429											
TAF2	6873	broad.mit.edu	37	chr8	120797466	120797468	+	In_Frame_Del	DEL	CTT	CTT	-																															tgcagaaagatccatatcaaCttcttctccattcatcagtg																										TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr8:120797466_120797468delCTT	ENST00000378164.2	-	15	2130_2132	c.1832_1834delAAG	c.(1831-1836)gaagtt>gtt	p.E611del		NM_003184.3	NP_003175	Q6P1X5	TAF2_HUMAN	TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa	611					G2/M transition of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor TFIID complex|transcription factor TFTC complex	metallopeptidase activity|protein binding|transcription regulatory region DNA binding|zinc ion binding			NS(2)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(21)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	49	Lung NSC(37;9.35e-07)|Ovarian(258;0.011)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCCATATCAACTTCTTCTCCATT	0.305													-	120797468	CTT	-	120797466	7	5	450	1	0	1	0	1	0	0	0	0	15621	565	20	0	1813	0	TAF2	8	120797466	In_Frame_Del	DEL	CTT	TCGA-E1-A7YJ-01A-11D-A34A-08		120797466	25566556	27	43430											
TEK	7010	broad.mit.edu	37	chr9	27169602	27169602	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaaacctcttcacctcGgccttcaccaggctgatagt	9	9	10	13	1	3	1	2	1	1	0	4	3	3	3	4	4	1	1	4	4	2	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:27169602G>A	ENST00000380036.4	+	4	1045	c.603G>A	c.(601-603)tcG>tcA	p.S201S	TEK_ENST00000406359.4_Silent_p.S201S|TEK_ENST00000519097.1_Silent_p.S97S	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	201					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity	p.S201S(1)		breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		TCTTCACCTCGGCCTTCACCA	0.473													A	27169602	G	A	27169602	2	1	450	1	0	0	0	0	0	0	0	1	15851	1103	39	1		1	TEK	9	27169602	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		27169602	114043829	28	43431											
FRMD3	257019	broad.mit.edu	37	chr9	86153116	86153116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttcatggtcctcctgcCtctcggcacacagtggcagg	6	11	10	14	1	2	0	1	0	1	0	5	0	4	0	3	4	1	2	3	4	0	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr9:86153116C>T	ENST00000304195.3	-	1	237	c.31G>A	c.(31-33)Ggc>Agc	p.G11S	FRMD3_ENST00000376438.1_Missense_Mutation_p.G11S	NM_001244960.1|NM_174938.5	NP_001231889.1|NP_777598.3	A2A2Y4	FRMD3_HUMAN	FERM domain containing 3	11						cytoplasm|cytoskeleton|extrinsic to membrane|integral to membrane	cytoskeletal protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	30						GTCCTCCTGCCTCTCGGCACA	0.652													T	86153116	C	T	86153116	3	4	450	1	0	0	0	0	1	0	0	0	6102	681	24	2	1818	2	FRMD3	9	86153116	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	58983514	86153116	55060315	29	43432											
CCAR1	55749	broad.mit.edu	37	chr10	70509372	70509372	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccacgaagagagcgagagCgatcacctcggagagttcga	12	5	13	11	5	1	3	1	0	0	3	4	9	2	3	2	1	2	1	2	1	1	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:70509372C>T	ENST00000265872.6	+	10	1167	c.1048C>T	c.(1048-1050)Cga>Tga	p.R350*	CCAR1_ENST00000535016.1_Nonsense_Mutation_p.R335*|CCAR1_ENST00000543719.1_Nonsense_Mutation_p.R335*	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	350	Arg-rich.				apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGCGAGAGCGATCACCTCG	0.463													T	70509372	C	T	70509372	4	4	450	1	0	0	0	0	0	1	0	0	2756	760	27	1	1082	1	CCAR1	10	70509372	Nonsense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		70509372	65025375	30	43433											
BAG3	9531	broad.mit.edu	37	chr10	121429423	121429423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctaggctgccgcctgctaggGaaggccaccctgtgtacccc	6	7	12	16	1	0	0	0	0	0	0	0	1	0	1	6	3	3	3	6	3	4	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr10:121429423G>A	ENST00000369085.3	+	2	547	c.241G>A	c.(241-243)Gaa>Aaa	p.E81K		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	81					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GCCTGCTAGGGAAGGCCACCC	0.572													A	121429423	G	A	121429423	3	1	450	1	0	0	0	0	1	0	0	0	1293	1175	41	2	247	2	BAG3	10	121429423	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	50920051	121429423	14105324	31	43434											
PRPF19	27339	broad.mit.edu	37	chr11	60658695	60658695	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgaagcgatgaacttggcGtgatgcccgaaggccacccc	9	7	13	12	3	0	3	0	3	0	0	0	5	0	3	4	2	3	1	4	2	3	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr11:60658695G>A	ENST00000227524.4	-	16	1663	c.1458C>T	c.(1456-1458)caC>caT	p.H486H		NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19	486					DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity	p.H486H(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						TGAACTTGGCGTGATGCCCGA	0.542													A	60658695	G	A	60658695	2	1	450	1	0	0	0	0	0	0	0	1	12650	1136	40	1		1	PRPF19	11	60658695	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		60658695	74347821	32	43435											
WNK1	65125	broad.mit.edu	37	chr12	977319	977319	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtactacagccagtagagtAactggagagtcatgtgagat	13	9	13	6	0	1	3	1	1	0	3	1	5	1	3	1	2	4	3	1	2	4	4			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:977319A>G	ENST00000537687.1	+	9	3070	c.2427A>G	c.(2425-2427)gtA>gtG	p.V809V	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000574564.1_Silent_p.V108V|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Silent_p.V894V|WNK1_ENST00000340908.4_Intron	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCAGTAGAGTAACTGGAGAGT	0.478													G	977319	A	G	977319	2	3	450	1	0	0	0	0	0	0	0	1	17479	349	13	3		3	WNK1	12	977319	Silent	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08		977319	132874576	33	43436											
KRT5	3852	broad.mit.edu	37	chr12	52910609	52910609	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagctccccacgctgctcGgcatccgcaatggcgttctg	5	8	11	17	4	1	0	0	0	1	0	4	0	3	0	4	2	2	6	4	2	1	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:52910609G>A	ENST00000252242.4	-	7	1641	c.1251C>T	c.(1249-1251)gcC>gcT	p.A417A		NM_000424.3	NP_000415.2	P13647	K2C5_HUMAN	keratin 5	417	Coil 2.|Rod.				epidermis development|hemidesmosome assembly	cytosol|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(5)|kidney(1)|large_intestine(8)|lung(15)|prostate(4)|skin(2)	35				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCTGCTCGGCATCCGCAA	0.617													A	52910609	G	A	52910609	2	1	450	1	0	0	0	0	0	0	0	1	8537	1103	39	1		1	KRT5	12	52910609	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	51933290	52910609	80941286	34	43437											
CUX2	23316	broad.mit.edu	37	chr12	111758395	111758395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagggcgcgacggccgaggCgggcgcgcggctgccctact	4	4	19	14	8	0	1	0	1	0	0	0	3	0	1	2	5	2	1	2	5	1	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:111758395C>T	ENST00000261726.6	+	17	2736	c.2582C>T	c.(2581-2583)gCg>gTg	p.A861V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	861						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						ACGGCCGAGGCGGGCGCGCGG	0.746													T	111758395	C	T	111758395	3	4	450	1	0	0	0	0	1	0	0	0	4098	768	27	1	2648	1	CUX2	12	111758395	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	58847786	111758395	22093500	35	43438											
RIMBP2	23504	broad.mit.edu	37	chr12	130927095	130927095	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgccggaatggttgatgaAgttctgatcctgctcgttcc	7	13	12	9	2	1	3	0	3	1	0	4	5	3	4	3	2	2	4	3	2	2	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr12:130927095A>T	ENST00000261655.4	-	8	914	c.751T>A	c.(751-753)Ttc>Atc	p.F251I	RIMBP2_ENST00000536002.1_Missense_Mutation_p.F159I|RIMBP2_ENST00000535703.1_Missense_Mutation_p.F159I	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	251						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TGGTTGATGAAGTTCTGATCC	0.607													T	130927095	A	T	130927095	3	4	450	1	0	0	0	0	1	0	0	0	13452	72	3	5	2455	5	RIMBP2	12	130927095	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	19168700	130927095	2924800	36	43439											
WDR20	91833	broad.mit.edu	37	chr14	102676161	102676162	+	Frame_Shift_Del	DEL	GA	GA	-																															gtatagtcactgcttgtcagGagggatttatttgcacatgg																										TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr14:102676161_102676162delGA	ENST00000335263.5	+	3	1734_1735	c.1654_1655delGA	c.(1654-1656)gagfs	p.E552fs	WDR20_ENST00000454394.2_Frame_Shift_Del_p.E583fs|WDR20_ENST00000322340.5_Intron|WDR20_ENST00000299135.6_3'UTR|WDR20_ENST00000556807.1_Frame_Shift_Del_p.E491fs|WDR20_ENST00000556511.2_Frame_Shift_Del_p.E491fs|WDR20_ENST00000424963.2_Frame_Shift_Del_p.E428fs|WDR20_ENST00000545563.1_Frame_Shift_Del_p.E379fs|WDR20_ENST00000342702.3_Frame_Shift_Del_p.E552fs|WDR20_ENST00000499851.2_Frame_Shift_Del_p.E295fs	NM_181291.2	NP_851808.1	Q8TBZ3	WDR20_HUMAN	WD repeat domain 20	552										breast(1)|large_intestine(2)|lung(4)|prostate(1)	8						TGCTTGTCAGGAGGGATTTATT	0.391													-	102676162	GA	-	102676161	7	5	450	1	0	1	0	1	0	0	0	0	17382	1175	41	0	1681	0	WDR20	14	102676161	Frame_Shift_Del	DEL	GA	TCGA-E1-A7YJ-01A-11D-A34A-08		102676161	4673379	37	43440											
ODF3L1	161753	broad.mit.edu	37	chr15	76018478	76018478	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggaatgtccagctgcccGcaggtccccatggaggagcg	7	8	14	12	2	0	0	0	0	0	0	2	3	2	3	4	4	3	2	4	4	1	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:76018478G>A	ENST00000332145.2	+	3	532	c.309G>A	c.(307-309)ccG>ccA	p.P103P		NM_175881.3	NP_787077.1	Q8IXM7	OD3L1_HUMAN	outer dense fiber of sperm tails 3-like 1	103										kidney(1)|lung(1)	2						CCAGCTGCCCGCAGGTCCCCA	0.592													A	76018478	G	A	76018478	2	1	450	1	0	0	0	0	0	0	0	1	10907	1074	38	1		1	ODF3L1	15	76018478	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		76018478	26512914	38	43441											
AGBL1	123624	broad.mit.edu	37	chr15	86940658	86940658	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagagagcaatgccagttgGgtgatgaagggtaccttgga	11	8	17	5	0	0	3	0	2	0	1	0	6	0	5	2	4	3	3	2	4	3	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr15:86940658G>A	ENST00000441037.2	+	17	2393	c.2298G>A	c.(2296-2298)tgG>tgA	p.W766*	AGBL1_ENST00000389298.3_Nonsense_Mutation_p.W497*|AGBL1_ENST00000421325.2_Nonsense_Mutation_p.W766*	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	766					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						ATGCCAGTTGGGTGATGAAGG	0.473													A	86940658	G	A	86940658	4	1	450	1	0	0	0	0	0	1	0	0	375	1241	43	2	2360	2	AGBL1	15	86940658	Nonsense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	10922180	86940658	15590734	39	43442											
NDRG4	65009	broad.mit.edu	37	chr16	58545427	58545427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacaggcctgcacccactcaGagagcagcgaggggctgggc	9	3	15	14	1	1	1	1	0	0	1	1	3	1	1	2	4	3	3	2	4	0	0			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:58545427G>A	ENST00000394282.4	+	16	1530	c.1123G>A	c.(1123-1125)Gag>Aag	p.E375K	NDRG4_ENST00000258187.5_Missense_Mutation_p.E355K|NDRG4_ENST00000569923.1_Missense_Mutation_p.E268K|NDRG4_ENST00000566192.1_Missense_Mutation_p.E323K|NDRG4_ENST00000562999.1_Missense_Mutation_p.E311K|NDRG4_ENST00000563799.1_Missense_Mutation_p.E341K|NDRG4_ENST00000394279.2_Missense_Mutation_p.E355K|NDRG4_ENST00000356752.4_Missense_Mutation_p.E353K|NDRG4_ENST00000570248.1_Missense_Mutation_p.E336K|NDRG4_ENST00000568640.1_Missense_Mutation_p.E341K	NM_001130487.1	NP_001123959.1	Q9ULP0	NDRG4_HUMAN	NDRG family member 4	336					cell differentiation|cell growth|multicellular organismal development|response to stress	cytoplasm				breast(1)|endometrium(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11						CACCCACTCAGAGAGCAGCGA	0.682													A	58545427	G	A	58545427	3	1	450	1	0	0	0	0	1	0	0	0	10330	943	33	2	1185	2	NDRG4	16	58545427	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		58545427	31809326	40	43443											
PLEKHG4	25894	broad.mit.edu	37	chr16	67318812	67318812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtgccgctgggcctgggCgcggtgccaggacacctggc	4	5	19	13	3	0	0	0	0	0	0	0	2	0	2	4	6	2	1	4	6	0	0			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:67318812C>T	ENST00000360461.5	+	12	4424	c.1889C>T	c.(1888-1890)gCg>gTg	p.A630V	PLEKHG4_ENST00000379344.3_Missense_Mutation_p.A630V|PLEKHG4_ENST00000450733.1_Missense_Mutation_p.A549V|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.A630V	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	630					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		TGGGCCTGGGCGCGGTGCCAG	0.662													T	67318812	C	T	67318812	3	4	450	1	0	0	0	0	1	0	0	0	12148	768	27	1	1935	1	PLEKHG4	16	67318812	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	8773385	67318812	23035941	41	43444											
FBXO31	79791	broad.mit.edu	37	chr16	87377354	87377354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaggtacatccacccgatGatgaacaggccgtccaccta	11	6	10	14	2	0	2	0	2	0	0	2	3	2	2	5	3	2	2	5	3	3	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr16:87377354G>A	ENST00000311635.7	-	4	519	c.507C>T	c.(505-507)atC>atT	p.I169I		NM_001282683.1|NM_024735.3	NP_001269612.1|NP_079011.3	Q5XUX0	FBX31_HUMAN	F-box protein 31	169					cell cycle|cyclin catabolic process|mitotic cell cycle G1/S transition DNA damage checkpoint|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	SCF ubiquitin ligase complex	cyclin binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0272)		TCCACCCGATGATGAACAGGC	0.617													A	87377354	G	A	87377354	2	1	450	1	0	0	0	0	0	0	0	1	5790	1280	45	2		2	FBXO31	16	87377354	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	20058542	87377354	2977399	42	43445											
YBX2	51087	broad.mit.edu	37	chr17	7192121	7192121	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaatcactccaggatggTggtggtggggtccccactgt	6	11	15	9	0	1	0	1	0	0	0	3	2	3	2	3	7	0	0	3	7	1	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:7192121T>G	ENST00000007699.5	-	8	1144	c.1081A>C	c.(1081-1083)Acc>Ccc	p.T361P		NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	361	Required for mRNA-binding.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						TCCAGGATGGTGGTGGTGGGG	0.542													G	7192121	T	G	7192121	3	3	450	1	0	0	0	0	1	0	0	0	17572	1696	59	5	17	5	YBX2	17	7192121	Missense_Mutation	SNP	T	TCGA-E1-A7YJ-01A-11D-A34A-08		7192121	74003089	43	43446											
CWC25	54883	broad.mit.edu	37	chr17	36959088	36959088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatcatctcttgccgttttCgctctaattcctctgcagag	6	15	6	14	2	4	1	1	0	3	1	7	1	5	1	3	0	2	3	3	0	1	5			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:36959088C>T	ENST00000225428.5	-	9	1325	c.1028G>A	c.(1027-1029)cGa>cAa	p.R343Q	CWC25_ENST00000536127.1_Missense_Mutation_p.R280Q	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						TTGCCGTTTTCGCTCTAATTC	0.483													T	36959088	C	T	36959088	3	4	450	1	0	0	0	0	1	0	0	0	4102	884	31	1	257	1	CWC25	17	36959088	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	29766967	36959088	44236122	44	43447											
KRT34	3885	broad.mit.edu	37	chr17	39538446	39538446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggggggcacgcagggccggGaggagcagctggtgcggcag	6	3	23	9	3	0	0	0	0	0	0	0	2	0	2	1	8	3	5	1	8	0	0			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:39538446G>A	ENST00000394001.1	-	1	209	c.179C>T	c.(178-180)tCc>tTc	p.S60F		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	60	Head.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GCAGGGCCGGGAGGAGCAGCT	0.627													A	39538446	G	A	39538446	3	1	450	1	0	0	0	0	1	0	0	0	8529	1174	41	2	1159	2	KRT34	17	39538446	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	2579358	39538446	41656764	45	43448											
KCNH6	81033	broad.mit.edu	37	chr17	61613107	61613107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacggaagctggaccgctaCtctgagtatggggcggctgt	7	8	16	10	3	1	1	0	1	1	0	1	3	1	3	1	5	2	5	1	5	3	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:61613107C>T	ENST00000583023.1	+	6	1190	c.1179C>T	c.(1177-1179)taC>taT	p.Y393Y	KCNH6_ENST00000456941.2_Silent_p.Y393Y|KCNH6_ENST00000580652.1_Silent_p.Y393Y|KCNH6_ENST00000314672.5_Silent_p.Y393Y|KCNH6_ENST00000581784.1_Silent_p.Y393Y	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	393					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	TGGACCGCTACTCTGAGTATG	0.607													T	61613107	C	T	61613107	2	4	450	1	0	0	0	0	0	0	0	1	8094	576	20	2		2	KCNH6	17	61613107	Silent	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08	22074661	61613107	19582103	46	43449											
DNAH17	8632	broad.mit.edu	37	chr17	76503840	76503840	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccgcgggtgcggctcGtgctggaattccatcatgct	4	11	13	13	4	1	0	1	0	0	0	4	1	3	1	3	3	3	3	3	3	1	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr17:76503840G>A	ENST00000389840.5	-	28	4396	c.4272C>T	c.(4270-4272)caC>caT	p.H1424H	DNAH17_ENST00000585328.1_Silent_p.H1425H					dynein, axonemal, heavy chain 17									p.H1425H(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GGTGCGGCTCGTGCTGGAATT	0.552													A	76503840	G	A	76503840	2	1	450	1	0	0	0	0	0	0	0	1	4640	1136	40	1		1	DNAH17	17	76503840	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	14890733	76503840	4691370	47	43450											
SERPINB2	5055	broad.mit.edu	37	chr18	61558848	61558848	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagaccagatggccaaggTgagtttgagctgaagctcca	12	7	13	9	1	0	5	0	3	0	2	1	6	1	5	3	2	2	3	3	2	3	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr18:61558848T>A	ENST00000457692.1	+	3	501		c.e3+2		SERPINB2_ENST00000299502.4_Splice_Site	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2						anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	ATGGCCAAGGTGAGTTTGAGC	0.522													A	61558848	T	A	61558848	5	1	450	1	0	0	0	0	0	0	1	0	14194	1710	59	5	172	5	SERPINB2	18	61558848	Splice_Site	SNP	T	TCGA-E1-A7YJ-01A-11D-A34A-08		61558848	16518400	48	43451											
CEACAM8	1088	broad.mit.edu	37	chr19	43098946	43098946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccctgccaggggatgCgccatctgcaggaaggggct	7	5	17	12	1	1	0	0	0	1	0	1	3	1	3	4	6	4	2	4	6	1	0	rs143763173		TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:43098946C>T	ENST00000244336.5	-	1	136	c.35G>A	c.(34-36)cGc>cAc	p.R12H	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|CEACAM8_ENST00000599005.1_Missense_Mutation_p.R12H	NM_001816.3	NP_001807.2	P31997	CEAM8_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 8	12					immune response	anchored to membrane|extracellular space|integral to plasma membrane				endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	16		Prostate(69;0.00899)				CCAGGGGATGCGCCATCTGCA	0.612													T	43098946	C	T	43098946	3	4	450	1	0	0	0	0	1	0	0	0	3228	768	27	1	1034	1	CEACAM8	19	43098946	Missense_Mutation	SNP	C	TCGA-E1-A7YJ-01A-11D-A34A-08		43098946	16030037	49	43452											
CCDC8	83987	broad.mit.edu	37	chr19	46915004	46915004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccctctggttatctgcaGcctctgccccctcctcagct	3	13	6	19	0	4	0	1	0	3	0	6	0	6	0	5	1	4	3	5	1	1	2			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:46915004G>A	ENST00000307522.3	-	1	1837	c.1064C>T	c.(1063-1065)gCt>gTt	p.A355V		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	355						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		GTTATCTGCAGCCTCTGCCCC	0.617													A	46915004	G	A	46915004	3	1	450	1	0	0	0	0	1	0	0	0	2881	971	34	2	556	2	CCDC8	19	46915004	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	3816058	46915004	12213979	50	43453											
SLC17A7	57030	broad.mit.edu	37	chr19	49934335	49934335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgacagtgtgcccacgccGttggagatgcccatgaggat	8	7	13	13	3	0	2	0	1	0	1	0	5	0	3	4	2	2	1	4	2	0	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:49934335G>A	ENST00000221485.3	-	11	1497	c.1326C>T	c.(1324-1326)aaC>aaT	p.N442N	SLC17A7_ENST00000543531.1_Silent_p.N430N|SLC17A7_ENST00000600601.1_Silent_p.N375N	NM_020309.3	NP_064705.1	Q9P2U7	VGLU1_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 7	442					glutamate secretion|neurotransmitter secretion	cell junction|clathrin sculpted glutamate transport vesicle membrane|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|sodium-dependent phosphate transmembrane transporter activity|sodium:inorganic phosphate symporter activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	26		all_lung(116;1.62e-07)|Lung NSC(112;8.47e-07)|all_neural(266;0.0381)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(486;0.0245)		TGCCCACGCCGTTGGAGATGC	0.622													A	49934335	G	A	49934335	2	1	450	1	0	0	0	0	0	0	0	1	14516	1136	40	1		1	SLC17A7	19	49934335	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	3019331	49934335	9194648	51	43454											
EPN1	29924	broad.mit.edu	37	chr19	56190168	56190168	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcggagatcatgagcAtgatctggaagcggctcaat	10	10	11	10	2	4	3	2	2	2	1	5	5	4	4	1	3	2	2	1	3	2	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr19:56190168A>G	ENST00000411543.2	+	3	1055	c.508A>G	c.(508-510)Atg>Gtg	p.M170V	EPN1_ENST00000270460.6_Missense_Mutation_p.M59V|EPN1_ENST00000085079.7_Missense_Mutation_p.M59V	NM_001130071.1	NP_001123543.1	Q9Y6I3	EPN1_HUMAN	epsin 1	59					endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|cytoplasm|nucleus|plasma membrane	lipid binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		GATCATGAGCATGATCTGGAA	0.592													G	56190168	A	G	56190168	3	3	450	1	0	0	0	0	1	0	0	0	5226	217	8	3	518	3	EPN1	19	56190168	Missense_Mutation	SNP	A	TCGA-E1-A7YJ-01A-11D-A34A-08	6255833	56190168	2938815	52	43455											
EDEM2	55741	broad.mit.edu	37	chr20	33703560	33703560	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcttctgtgttgaagatGtaccccccagcccccaggat	8	10	10	13	0	1	3	0	2	1	1	1	4	1	4	5	1	3	3	5	1	2	3			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:33703560G>T	ENST00000374492.3	-	11	1518	c.1413C>A	c.(1411-1413)taC>taA	p.Y471*	EDEM2_ENST00000374491.3_Nonsense_Mutation_p.Y434*|EDEM2_ENST00000541621.1_Nonsense_Mutation_p.Y250*|EDEM2_ENST00000542871.1_Nonsense_Mutation_p.Y195*	NM_018217.2	NP_060687.2	Q9BV94	EDEM2_HUMAN	ER degradation enhancer, mannosidase alpha-like 2	471					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane|extracellular region	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	22			BRCA - Breast invasive adenocarcinoma(18;0.00936)			TGTTGAAGATGTACCCCCCAG	0.587													T	33703560	G	T	33703560	4	4	450	1	0	0	0	0	0	1	0	0	4951	1372	48	4	327	4	EDEM2	20	33703560	Nonsense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		33703560	29321960	53	43456											
MATN4	8785	broad.mit.edu	37	chr20	43926951	43926951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgctccaccatgtgccGcaacgccagccctgtcatgg	6	8	11	16	2	1	0	1	0	0	0	2	0	2	0	5	1	4	3	5	1	1	0			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr20:43926951G>A	ENST00000537548.1	-	8	1529	c.1285C>T	c.(1285-1287)Cgg>Tgg	p.R429W	MATN4_ENST00000353917.5_Missense_Mutation_p.R347W|MATN4_ENST00000372756.1_Missense_Mutation_p.R429W|MATN4_ENST00000342716.4_Missense_Mutation_p.R429W|MATN4_ENST00000372754.1_Missense_Mutation_p.R470W|MATN4_ENST00000360607.6_Missense_Mutation_p.R388W|MATN4_ENST00000372751.4_Missense_Mutation_p.R280W			O95460	MATN4_HUMAN	matrilin 4	470	VWFA 2.					extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.0122)				ACCATGTGCCGCAACGCCAGC	0.672													A	43926951	G	A	43926951	3	1	450	1	0	0	0	0	1	0	0	0	9411	1086	38	1	476	1	MATN4	20	43926951	Missense_Mutation	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08	10223391	43926951	19098569	54	43457											
RAB36	9609	broad.mit.edu	37	chr22	23503697	23503697	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccttacagaaatggaaggGagtccgcccgagacccagga	12	5	12	12	2	0	2	0	0	0	2	2	6	2	5	4	3	1	0	4	3	3	1			TCGA-E1-A7YJ-01A-11D-A34A-08	TCGA-E1-A7YJ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	654fabe2-2ea1-41b5-aa4e-4df8b97d7552	b2b78f2f-604d-42fd-983e-42d431e68e4e	g.chr22:23503697G>T	ENST00000263116.2	+	11	988	c.948G>T	c.(946-948)ggG>ggT	p.G316G	RAB36_ENST00000341989.4_Silent_p.G294G	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	316					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		AAATGGAAGGGAGTCCGCCCG	0.607													T	23503697	G	T	23503697	2	4	450	1	0	0	0	0	0	0	0	1	13014	1161	41	4		4	RAB36	22	23503697	Silent	SNP	G	TCGA-E1-A7YJ-01A-11D-A34A-08		23503697	27800869	55	43458											
GRHL3	57822	broad.mit.edu	37	chr1	24664502	24664502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtggtgatggttgtcttCgacaatgagaaggtcccagt	9	12	14	6	1	1	2	0	2	1	1	3	4	2	2	1	3	0	1	1	3	2	2			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:24664502C>T	ENST00000361548.4	+	7	1091	c.861C>T	c.(859-861)ttC>ttT	p.F287F	GRHL3_ENST00000356046.2_Silent_p.F241F|GRHL3_ENST00000342072.4_Silent_p.F194F|GRHL3_ENST00000236255.4_Silent_p.F292F|GRHL3_ENST00000350501.5_Silent_p.F287F	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	287					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		TGGTTGTCTTCGACAATGAGA	0.572													T	24664502	C	T	24664502	2	4	451	1	0	0	0	0	0	0	0	1	6820	883	31	1		1	GRHL3	1	24664502	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		24664502	224586119	1	43459											
ZCCHC11	23318	broad.mit.edu	37	chr1	52891127	52891127	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaagggggaaatggggAcgcggtgcatgttcccaagg	10	5	19	7	2	0	0	0	0	0	0	1	3	1	3	1	7	1	2	1	7	3	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:52891127A>G	ENST00000371544.3	-	29	5023	c.4761T>C	c.(4759-4761)cgT>cgC	p.R1587R	ZCCHC11_ENST00000257177.4_Silent_p.R1588R	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	1587	Pro-rich.				miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						GGAAATGGGGACGCGGTGCAT	0.463													G	52891127	A	G	52891127	2	3	451	1	0	0	0	0	0	0	0	1	17681	262	10	3		3	ZCCHC11	1	52891127	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	28226625	52891127	196359494	2	43460											
DRAM2	128338	broad.mit.edu	37	chr1	111674063	111674063	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctgatataaggtaaagcCgggtctatatggtggagtgt	11	12	13	5	1	1	1	0	1	1	0	1	2	1	2	2	4	2	1	2	4	7	6			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:111674063C>T	ENST00000286692.4	-	3	731	c.114G>A	c.(112-114)ccG>ccA	p.P38P	DRAM2_ENST00000539140.1_Silent_p.P38P|DRAM2_ENST00000484310.1_5'UTR			Q6UX65	DRAM2_HUMAN	DNA-damage regulated autophagy modulator 2	38					apoptosis|induction of apoptosis	Golgi apparatus|integral to membrane|lysosomal membrane				endometrium(1)|large_intestine(5)|lung(3)	9						AAGGTAAAGCCGGGTCTATAT	0.368													T	111674063	C	T	111674063	2	4	451	1	0	0	0	0	0	0	0	1	4793	639	23	1		1	DRAM2	1	111674063	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	58782936	111674063	137576558	3	43461											
FLG2	388698	broad.mit.edu	37	chr1	152325478	152325478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttggccgtaagtgtgttctCgtgagtgtggtctgtgtgag	4	15	16	6	2	2	2	0	2	2	0	3	2	2	2	1	2	0	2	1	2	1	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:152325478C>T	ENST00000388718.5	-	3	4856	c.4784G>A	c.(4783-4785)cGa>cAa	p.R1595Q	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1595							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTGTGTTCTCGTGAGTGTGG	0.512													T	152325478	C	T	152325478	3	4	451	1	0	0	0	0	1	0	0	0	5972	884	31	1	2395	1	FLG2	1	152325478	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	40651415	152325478	96925143	4	43462											
SLAMF7	57823	broad.mit.edu	37	chr1	160719820	160719820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatatgaccttcatctgcGttgccaggaaccctgtcagc	8	11	10	12	1	3	2	2	2	1	0	3	3	3	3	3	1	4	1	3	1	2	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:160719820G>A	ENST00000368043.3	+	3	623	c.586G>A	c.(586-588)Gtt>Att	p.V196I	SLAMF7_ENST00000441662.2_Intron|SLAMF7_ENST00000444090.2_Intron|SLAMF7_ENST00000359331.4_Missense_Mutation_p.V196I|SLAMF7_ENST00000458602.2_Missense_Mutation_p.V89I|SLAMF7_ENST00000368042.3_Missense_Mutation_p.V89I|SLAMF7_ENST00000458104.2_Missense_Mutation_p.V89I	NM_001282595.1|NM_021181.3	NP_001269524.1|NP_067004.3	Q9NQ25	SLAF7_HUMAN	SLAM family member 7	196	Ig-like C2-type.				cell adhesion|natural killer cell activation|natural killer cell mediated cytotoxicity	integral to membrane	receptor activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(4)	24	all_cancers(52;2.63e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTCATCTGCGTTGCCAGGAA	0.567													A	160719820	G	A	160719820	3	1	451	1	0	0	0	0	1	0	0	0	14463	1145	40	1	596	1	SLAMF7	1	160719820	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	8394342	160719820	88530801	5	43463											
KCNK2	3776	broad.mit.edu	37	chr1	215259857	215259857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggaagacggtctccacgAtattcctggtggttgtcctc	8	12	11	10	2	1	1	0	0	1	1	5	3	3	2	3	4	0	1	3	4	3	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:215259857A>G	ENST00000444842.2	+	2	343	c.193A>G	c.(193-195)Ata>Gta	p.I65V	KCNK2_ENST00000391894.2_Missense_Mutation_p.I50V|KCNK2_ENST00000391895.2_Missense_Mutation_p.I61V	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	65							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GGTCTCCACGATATTCCTGGT	0.502													G	215259857	A	G	215259857	3	3	451	1	0	0	0	0	1	0	0	0	8124	333	12	3	242	3	KCNK2	1	215259857	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	54540037	215259857	33990764	6	43464											
RYR2	6262	broad.mit.edu	37	chr1	237660042	237660042	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggatttgatggccttcaTctctggtcaggtacgtacta	8	15	10	8	1	3	1	2	1	1	0	4	2	3	2	1	4	2	2	1	4	4	6			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr1:237660042T>C	ENST00000366574.2	+	20	2510	c.2193T>C	c.(2191-2193)caT>caC	p.H731H	RYR2_ENST00000542537.1_Silent_p.H715H|RYR2_ENST00000360064.6_Silent_p.H729H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	731	B30.2/SPRY 1.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ATGGCCTTCATCTCTGGTCAG	0.473													C	237660042	T	C	237660042	2	2	451	1	0	0	0	0	0	0	0	1	13860	1432	50	3		3	RYR2	1	237660042	Silent	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	22400185	237660042	11590579	7	43465											
MBOAT2	129642	broad.mit.edu	37	chr2	9000752	9000752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaacacttacctgtaaaacGtgagtgatggttttatagaa	14	13	9	5	1	0	3	0	2	0	1	0	3	0	3	1	1	3	3	1	1	7	6	rs139368884		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:9000752G>A	ENST00000305997.3	-	12	1526	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_138799.2	NP_620154.2	Q6ZWT7	MBOA2_HUMAN	membrane bound O-acyltransferase domain containing 2	443					phospholipid biosynthetic process	integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity		MBOAT2/PRKCE(2)	endometrium(2)|kidney(1)|large_intestine(9)|lung(2)|skin(1)	15	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					CCTGTAAAACGTGAGTGATGG	0.313													A	9000752	G	A	9000752	3	1	451	1	0	0	0	0	1	0	0	0	9432	1145	40	1	242	1	MBOAT2	2	9000752	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		9000752	234198621	8	43466											
STAMBP	10617	broad.mit.edu	37	chr2	74087264	74087264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcatccacacagcaaggatCcacctctgttctgtgtacgt	9	12	7	13	1	3	0	1	0	2	0	5	1	5	1	3	1	2	3	3	1	2	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:74087264C>T	ENST00000394070.2	+	9	1707	c.1204C>T	c.(1204-1206)Cca>Tca	p.P402S	STAMBP_ENST00000409707.1_Missense_Mutation_p.P402S|STAMBP_ENST00000486458.1_3'UTR|STAMBP_ENST00000339566.3_Missense_Mutation_p.P402S|STAMBP_ENST00000394073.1_Missense_Mutation_p.P402S	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	402					JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						CAGCAAGGATCCACCTCTGTT	0.413													T	74087264	C	T	74087264	3	4	451	1	0	0	0	0	1	0	0	0	15346	855	30	2	1234	2	STAMBP	2	74087264	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	65086512	74087264	169112109	9	43467											
IL18R1	8809	broad.mit.edu	37	chr2	102988461	102988461	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcagaagaaataaacaCagctgtttcactgaaagaca	18	8	7	8	0	3	4	3	1	0	3	3	4	3	4	0	0	2	2	0	0	5	2			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:102988461C>G	ENST00000409599.1	+	5	707	c.351C>G	c.(349-351)caC>caG	p.H117Q	IL18R1_ENST00000233957.1_Missense_Mutation_p.H117Q|IL18R1_ENST00000334376.3_Missense_Mutation_p.H117Q			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	117	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						GAAATAAACACAGCTGTTTCA	0.284													G	102988461	C	G	102988461	3	3	451	1	0	0	0	0	1	0	0	0	7705	477	17	4	361	4	IL18R1	2	102988461	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	28901197	102988461	140210912	10	43468											
ANAPC1	64682	broad.mit.edu	37	chr2	112638298	112638298	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agctggcgaagttgaaggttCaaagcattagggtggtgctt	10	11	15	5	1	1	1	1	1	0	0	1	2	1	1	0	4	3	5	0	4	4	4			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:112638298C>G	ENST00000341068.3	-	2	877	c.105G>C	c.(103-105)ttG>ttC	p.L35F	ANAPC1_ENST00000489177.1_5'UTR	NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	35					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						GTTGAAGGTTCAAAGCATTAG	0.488													G	112638298	C	G	112638298	3	3	451	1	0	0	0	0	1	0	0	0	598	825	29	4	5917	4	ANAPC1	2	112638298	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	9649837	112638298	130561075	11	43469											
ZEB2	9839	broad.mit.edu	37	chr2	145147217	145147217	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catcctgtctgcccagcttcCcgtagccatcctcgccttct	4	12	6	19	2	2	0	0	0	2	0	6	0	5	0	6	0	3	2	6	0	1	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:145147217C>G	ENST00000558170.2	-	10	4630	c.3446G>C	c.(3445-3447)gGg>gCg	p.G1149A	ZEB2_ENST00000303660.4_Missense_Mutation_p.G1149A|ZEB2_ENST00000539609.3_Missense_Mutation_p.G1125A|ZEB2_ENST00000409487.3_Missense_Mutation_p.G1149A	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1149	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		GCCCAGCTTCCCGTAGCCATC	0.537													G	145147217	C	G	145147217	3	3	451	1	0	0	0	0	1	0	0	0	17725	623	22	4	202	4	ZEB2	2	145147217	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	32508919	145147217	98052156	12	43470											
LRP2	4036	broad.mit.edu	37	chr2	170068530	170068530	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatctgacaattccaagctAaagcctctgattgcagacag	13	10	8	10	0	2	4	0	3	2	1	3	4	3	4	2	0	3	2	2	0	4	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:170068530A>G	ENST00000263816.3	-	37	6513	c.6228T>C	c.(6226-6228)ttT>ttC	p.F2076F		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2076					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATTCCAAGCTAAAGCCTCTGA	0.453													G	170068530	A	G	170068530	2	3	451	1	0	0	0	0	0	0	0	1	9026	359	13	3		3	LRP2	2	170068530	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	24921313	170068530	73130843	13	43471											
TTN	7273	broad.mit.edu	37	chr2	179466139	179466139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccacagtctggattgaCtttggtccaggcttttccat	6	15	9	11	0	1	1	0	1	1	0	4	2	4	2	3	3	0	2	3	3	0	5			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr2:179466139C>G	ENST00000589042.1	-	287	55809	c.55585G>C	c.(55585-55587)Gtc>Ctc	p.V18529L	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V9589L|TTN_ENST00000460472.2_Missense_Mutation_p.V9464L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V16888L|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V15961L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V9656L|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16888							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCTGGATTGACTTTGGTCCAG	0.458													G	179466139	C	G	179466139	3	3	451	1	0	0	0	0	1	0	0	0	16837	565	20	4	52412	4	TTN	2	179466139	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	9397609	179466139	63733234	14	43472											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	451	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	29646973	209113112	34086261	15	43473											
BHLHE40	8553	broad.mit.edu	37	chr3	5024544	5024544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgtcagggagaaatgtcGaaacaggtcaagagatgttc	14	8	13	6	1	2	2	2	0	0	2	4	5	2	2	0	2	2	2	0	2	3	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:5024544G>A	ENST00000256495.3	+	5	1009	c.406G>A	c.(406-408)Gaa>Aaa	p.E136K		NM_003670.2	NP_003661.1	O14503	BHE40_HUMAN	basic helix-loop-helix family, member e40	136						Golgi apparatus|nucleolus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(2)	12						GAGAAATGTCGAAACAGGTCA	0.507													A	5024544	G	A	5024544	3	1	451	1	0	0	0	0	1	0	0	0	1429	1059	37	1	424	1	BHLHE40	3	5024544	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		5024544	192997886	16	43474											
THRB	7068	broad.mit.edu	37	chr3	24169196	24169196	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcagcgcgaagggacAtgatctccatgcagcagcct	11	5	12	13	2	1	1	0	1	1	0	2	3	1	2	2	1	5	4	2	1	1	0			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:24169196A>C	ENST00000396671.2	-	10	1286	c.938T>G	c.(937-939)aTg>aGg	p.M313R	THRB_ENST00000356447.4_Missense_Mutation_p.M313R|THRB_ENST00000416420.1_Missense_Mutation_p.M313R|THRB_ENST00000280696.5_Missense_Mutation_p.M328R	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	313	Interaction with NR2F6.|Ligand-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	GCGAAGGGACATGATCTCCAT	0.493													C	24169196	A	C	24169196	3	2	451	1	0	0	0	0	1	0	0	0	15975	217	8	5	455	5	THRB	3	24169196	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	19144652	24169196	173853234	17	43475											
CDCP1	64866	broad.mit.edu	37	chr3	45132715	45132715	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagcaggtctagctgcttgCcgctcgtggggctgcagtta	6	10	15	10	2	1	1	0	0	1	1	2	1	1	1	1	3	5	7	1	3	2	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:45132715C>A	ENST00000296129.1	-	7	2077	c.1943G>T	c.(1942-1944)gGc>gTc	p.G648V		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	648						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TAGCTGCTTGCCGCTCGTGGG	0.547													A	45132715	C	A	45132715	3	1	451	1	0	0	0	0	1	0	0	0	3123	739	26	4	579	4	CDCP1	3	45132715	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	20963519	45132715	152889715	18	43476											
SETD2	29072	broad.mit.edu	37	chr3	47125722	47125722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagtggtgtatgagcacGcgatgtattctcactagaat	10	13	12	6	2	1	3	1	2	1	1	2	4	1	3	0	1	1	4	0	1	4	5			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr3:47125722G>A	ENST00000409792.3	-	12	5590	c.5548C>T	c.(5548-5550)Cgt>Tgt	p.R1850C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1850					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		GTATGAGCACGCGATGTATTC	0.463			"N, F, S, Mis"		clear cell renal carcinoma								A	47125722	G	A	47125722	3	1	451	1	0	0	0	0	1	0	0	0	14224	1087	38	1	2186	1	SETD2	3	47125722	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	1993007	47125722	150896708	19	43477											
RBM47	54502	broad.mit.edu	37	chr4	40434728	40434728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcggcggctgcggccgcGgctgcggcggcagcagcact	3	4	19	15	7	0	0	0	0	0	0	0	0	0	0	1	6	5	6	1	6	0	0			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:40434728G>A	ENST00000319592.4	-	5	1984	c.1275C>T	c.(1273-1275)gcC>gcT	p.A425A	RBM47_ENST00000295971.7_Silent_p.A494A|RBM47_ENST00000381793.2_Silent_p.A494A|RBM47_ENST00000381795.6_Silent_p.A425A|RBM47_ENST00000515809.1_5'UTR|RBM47_ENST00000514014.1_Silent_p.A456A			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	494						nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ctgcggccgcggctgcggcgg	0.577													A	40434728	G	A	40434728	2	1	451	1	0	0	0	0	0	0	0	1	13229	1103	39	1		1	RBM47	4	40434728	Silent	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		40434728	150719548	20	43478											
GUF1	60558	broad.mit.edu	37	chr4	44684369	44684369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggaattcaagcccaaactGtagcaaacttctttcttgcc	12	11	7	11	0	3	0	1	0	2	0	3	1	3	1	2	1	5	2	2	1	5	5			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:44684369G>C	ENST00000281543.5	+	5	720	c.526G>C	c.(526-528)Gta>Cta	p.V176L	GUF1_ENST00000506793.1_3'UTR	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)	176					translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						AGCCCAAACTGTAGCAAACTT	0.328													C	44684369	G	C	44684369	3	2	451	1	0	0	0	0	1	0	0	0	6954	1377	48	4	544	4	GUF1	4	44684369	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	4249641	44684369	146469907	21	43479											
KDR	3791	broad.mit.edu	37	chr4	55962466	55962466	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatatgaatgaggatcttGagttcagacatgagagctcg	13	10	11	7	1	2	5	1	4	1	2	3	7	2	6	1	1	1	2	1	1	3	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr4:55962466G>C	ENST00000263923.4	-	19	2953	c.2658C>G	c.(2656-2658)ctC>ctG	p.L886L		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	886	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGAGGATCTTGAGTTCAGACA	0.448			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			C	55962466	G	C	55962466	2	2	451	1	0	0	0	0	0	0	0	1	8197	1277	45	4		4	KDR	4	55962466	Silent	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	11278097	55962466	135191810	22	43480											
ACTBL2	345651	broad.mit.edu	37	chr5	56777528	56777528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccaaacagaatacttcCgctctgggggagctatgatc	12	9	9	11	1	1	2	0	1	1	1	4	3	3	3	2	2	3	2	2	2	5	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:56777528C>T	ENST00000423391.1	-	1	1108	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	CTD-2023N9.1_ENST00000506106.1_RNA	NM_001017992.3	NP_001017992.1	Q562R1	ACTBL_HUMAN	actin, beta-like 2	336						cytoplasm|cytoskeleton	ATP binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(3)|pancreas(1)|prostate(2)	28		Lung NSC(810;0.000135)|Prostate(74;0.055)|Breast(144;0.0707)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;4.24e-37)		AGAATACTTCCGCTCTGGGGG	0.517													T	56777528	C	T	56777528	3	4	451	1	0	0	0	0	1	0	0	0	194	652	23	1	127	1	ACTBL2	5	56777528	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		56777528	124137732	23	43481											
IRF1	3659	broad.mit.edu	37	chr5	131822746	131822746	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctcctcgatatctggCagggagttcatggcacagcg	8	10	11	12	2	3	0	2	0	1	0	5	2	4	1	2	3	1	3	2	3	1	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr5:131822746C>A	ENST00000245414.4	-	4	522	c.264G>T	c.(262-264)ctG>ctT	p.L88L	IRF1_ENST00000405885.2_Silent_p.L88L|IRF1_ENST00000463784.1_5'UTR	NM_002198.2	NP_002189.1	P10914	IRF1_HUMAN	interferon regulatory factor 1	88					blood coagulation|cellular response to mechanical stimulus|interferon-gamma-mediated signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleoplasm				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|urinary_tract(1)	11		all_cancers(142;0.026)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	LUAD - Lung adenocarcinoma(142;0.247)		CGATATCTGGCAGGGAGTTCA	0.542													A	131822746	C	A	131822746	2	1	451	1	0	0	0	0	0	0	0	1	7885	697	25	4		4	IRF1	5	131822746	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	75045218	131822746	49092514	24	43482											
SLC17A4	10050	broad.mit.edu	37	chr6	25770634	25770634	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatggtattaactggtcagtAttcaatttgggtcaaatggg	11	15	11	4	0	3	0	3	0	0	0	3	0	3	0	0	4	1	2	0	4	6	6			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:25770634A>C	ENST00000377905.4	+	5	673	c.554A>C	c.(553-555)tAt>tCt	p.Y185S	SLC17A4_ENST00000397076.2_Intron|SLC17A4_ENST00000439485.2_Intron	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	185					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						ACTGGTCAGTATTCAATTTGG	0.438													C	25770634	A	C	25770634	3	2	451	1	0	0	0	0	1	0	0	0	14513	449	16	5	568	5	SLC17A4	6	25770634	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08		25770634	145344433	25	43483											
SCAND3	114821	broad.mit.edu	37	chr6	28540057	28540057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggattttggatccacaaAtttcctatgcgtggatcttc	10	15	8	8	1	1	0	0	0	1	0	4	3	3	3	2	3	1	0	2	3	3	5			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:28540057A>G	ENST00000452236.2	-	4	4226	c.3609T>C	c.(3607-3609)aaT>aaC	p.N1203N		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1203					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ggatccacaaatttcctatgc	0.323													G	28540057	A	G	28540057	2	3	451	1	0	0	0	0	0	0	0	1	13968	98	4	3		3	SCAND3	6	28540057	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	2769423	28540057	142575010	26	43484											
OR14J1	442191	broad.mit.edu	37	chr6	29274971	29274971	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatacctctctgtgggAagagagtcattcaccaattc	10	12	7	12	0	4	1	2	0	2	1	7	3	4	2	3	1	1	0	3	1	3	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:29274971A>G	ENST00000377160.2	+	1	569	c.505A>G	c.(505-507)Aag>Gag	p.K169E		NM_030946.1	NP_112208.1	Q9UGF5	O14J1_HUMAN	olfactory receptor, family 14, subfamily J, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(2)	17						TCTCTGTGGGAAGAGAGTCAT	0.483													G	29274971	A	G	29274971	3	3	451	1	0	0	0	0	1	0	0	0	11024	247	9	3	507	3	OR14J1	6	29274971	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	734914	29274971	141840096	27	43485											
CFB	629	broad.mit.edu	37	chr6	31901509	31901509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcacggggtcttcggagCgggagtgccagggcaacggg	6	6	19	10	4	2	0	1	0	1	0	3	2	2	2	1	6	4	2	1	6	1	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:31901509C>T	ENST00000556679.1	+	3	434	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	C2_ENST00000469372.1_Silent_p.S20S|CFB_ENST00000477310.1_Intron|C2_ENST00000299367.5_Missense_Mutation_p.R189W|C2_ENST00000442278.2_Missense_Mutation_p.R57W|C2_ENST00000418949.2_Missense_Mutation_p.R189W|CFB_ENST00000456570.1_Missense_Mutation_p.R127W|C2_ENST00000452323.2_Missense_Mutation_p.R66W			P00751	CFAB_HUMAN	complement factor B	203	Sushi 2.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GTCTTCGGAGCGGGAGTGCCA	0.642													T	31901509	C	T	31901509	3	4	451	1	0	0	0	0	1	0	0	0	3308	759	27	1		1	CFB	6	31901509	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	2626538	31901509	139213558	28	43486											
ATF6B	1388	broad.mit.edu	37	chr6	32087599	32087599	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctctcctccccaacacttAcatccacttcaggcgggcag	8	10	6	17	1	2	0	1	0	1	0	6	0	5	0	4	2	2	1	4	2	2	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr6:32087599A>G	ENST00000375201.4	-	9	1003		c.e9+1		ATF6B_ENST00000375203.3_Splice_Site			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta						response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						CCCAACACTTACATCCACTTC	0.582													G	32087599	A	G	32087599	5	3	451	1	0	0	0	0	0	0	1	0	1090	405	14	3	1183	3	ATF6B	6	32087599	Splice_Site	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	186090	32087599	139027468	29	43487											
LFNG	3955	broad.mit.edu	37	chr7	2559863	2559863	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgctgtcaagaccaccaAaaagttccaccgcgcgcgcc	11	5	8	17	5	1	1	1	0	0	1	3	1	2	1	5	0	0	2	5	0	3	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:2559863A>G	ENST00000222725.5	+	1	388	c.368A>G	c.(367-369)aAa>aGa	p.K123R	LFNG_ENST00000359574.3_Missense_Mutation_p.K123R|LFNG_ENST00000402045.1_Intron|LFNG_ENST00000402506.1_Intron|LFNG_ENST00000338732.3_Intron	NM_001040167.1	NP_001035257.1	Q8NES3	LFNG_HUMAN	LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	123					organ morphogenesis	extracellular region|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|urinary_tract(2)	6		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.54e-14)		AAGACCACCAAAAAGTTCCAC	0.751													G	2559863	A	G	2559863	3	3	451	1	0	0	0	0	1	0	0	0	8796	14	1	3	646	3	LFNG	7	2559863	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08		2559863	156578800	30	43488											
ABCA13	154664	broad.mit.edu	37	chr7	48506570	48506570	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtgggggcgacaactTggacctcacccgtgtgcttc	7	8	13	13	2	1	0	1	0	0	0	2	2	1	1	2	3	3	2	2	3	1	2			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:48506570T>C	ENST00000435803.1	+	44	12857	c.12833T>C	c.(12832-12834)tTg>tCg	p.L4278S	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4278					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GGCGACAACTTGGACCTCACC	0.498													C	48506570	T	C	48506570	3	2	451	1	0	0	0	0	1	0	0	0	31	1821	63	3	12836	3	ABCA13	7	48506570	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	45946707	48506570	110632093	31	43489											
MGAM	8972	broad.mit.edu	37	chr7	141767161	141767161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgtgtcagaccaggtgaCatgggacatagacagtcagt	11	10	13	7	0	2	3	2	1	0	2	2	4	2	4	1	2	0	1	1	2	1	2			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr7:141767161C>T	ENST00000475668.2	+	42	4994	c.4940C>T	c.(4939-4941)aCa>aTa	p.T1647I	MGAM_ENST00000549489.2_Intron			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1647	Glucoamylase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	GACCAGGTGACATGGGACATA	0.582													T	141767161	C	T	141767161	3	4	451	1	0	0	0	0	1	0	0	0	9616	493	17	2		2	MGAM	7	141767161	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	93260591	141767161	17371502	32	43490											
RHPN1	114822	broad.mit.edu	37	chr8	144457813	144457813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacaaggagctgcagatgCggacgggcgctgagaacctc	10	6	15	10	3	0	3	0	2	0	2	1	6	0	5	1	3	4	3	1	3	2	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr8:144457813C>T	ENST00000289013.6	+	2	252	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	51					signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			GCTGCAGATGCGGACGGGCGC	0.672													T	144457813	C	T	144457813	3	4	451	1	0	0	0	0	1	0	0	0	13439	759	27	1	157	1	RHPN1	8	144457813	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		144457813	1906209	33	43491											
TRPM3	80036	broad.mit.edu	37	chr9	73235249	73235249	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcacgtttcttggtTgtctttcttcctcgcctcaa	3	20	5	13	2	7	0	2	0	5	0	9	0	8	0	2	1	0	2	2	1	1	7			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr9:73235249T>C	ENST00000377110.3	-	15	2079	c.1836A>G	c.(1834-1836)acA>acG	p.T612T	TRPM3_ENST00000396280.5_Silent_p.T461T|TRPM3_ENST00000408909.2_Silent_p.T471T|TRPM3_ENST00000357533.2_Silent_p.T616T|TRPM3_ENST00000396285.1_Silent_p.T459T|TRPM3_ENST00000423814.3_Silent_p.T639T|TRPM3_ENST00000360823.2_Silent_p.T474T|TRPM3_ENST00000396292.4_Silent_p.T484T|TRPM3_ENST00000377105.1_Silent_p.T471T|TRPM3_ENST00000377106.1_Silent_p.T484T|TRPM3_ENST00000377111.2_Silent_p.T612T|TRPM3_ENST00000358082.3_Silent_p.T474T			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity			NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						GTTTCTTGGTTGTCTTTCTTC	0.448													C	73235249	T	C	73235249	2	2	451	1	0	0	0	0	0	0	0	1	16688	1799	63	3		3	TRPM3	9	73235249	Silent	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		73235249	67978182	34	43492											
ITIH5	80760	broad.mit.edu	37	chr10	7614301	7614301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttattatagttccaggatgCtggcaaaaggaaatttcatg	13	14	9	5	0	1	0	1	0	0	0	2	2	2	2	1	3	1	3	1	3	6	6	rs141124086	by1000genomes	TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:7614301C>T	ENST00000397145.2	-	12	2198	c.2093G>A	c.(2092-2094)aGc>aAc	p.S698N	ITIH5_ENST00000446830.2_Intron|ITIH5_ENST00000397146.2_Intron|ITIH5_ENST00000298441.6_Intron|ITIH5_ENST00000256861.6_Intron|ITIH5_ENST00000434980.1_5'UTR	NM_001001851.2	NP_001001851.1	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	0					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCCAGGATGCTGGCAAAAGG	0.388													T	7614301	C	T	7614301	3	4	451	1	0	0	0	0	1	0	0	0	7965	797	28	2	870	2	ITIH5	10	7614301	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		7614301	127920446	35	43493											
NEBL	10529	broad.mit.edu	37	chr10	21120204	21120204	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttgcattcctttccctttaAtttcattttctaagtccttc	6	21	2	12	0	2	0	1	0	1	0	6	0	5	0	3	0	1	1	3	0	2	10			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:21120204A>C	ENST00000377122.4	-	16	1988	c.1592T>G	c.(1591-1593)aTt>aGt	p.I531S	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	531					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TTTCCCTTTAATTTCATTTTC	0.353													C	21120204	A	C	21120204	3	2	451	1	0	0	0	0	1	0	0	0	10379	101	4	5	1504	5	NEBL	10	21120204	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	13505903	21120204	114414543	36	43494											
CYP2C18	1562	broad.mit.edu	37	chr10	96480240	96480240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctggaacagagacaacgAgcaccactctgagatatgga	14	5	13	9	1	1	2	0	1	1	2	1	7	1	4	1	3	3	2	1	3	3	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr10:96480240A>G	ENST00000285979.6	+	6	1106	c.907A>G	c.(907-909)Agc>Ggc	p.S303G	CYP2C18_ENST00000339022.5_Missense_Mutation_p.S244G|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGAGACAACGAGCACCACTCT	0.423													G	96480240	A	G	96480240	3	3	451	1	0	0	0	0	1	0	0	0	4198	304	11	3	929	3	CYP2C18	10	96480240	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	75360036	96480240	39054507	37	43495											
SLC15A3	51296	broad.mit.edu	37	chr11	60714213	60714214	+	Frame_Shift_Ins	INS	-	-	GACA																															taaacgccaccaccagcagcINSgacagcacagcacccaggtt																								rs149019885		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr11:60714213_60714214insGACA	ENST00000227880.3	-	2	871_872	c.638_639insTGTC	c.(637-639)tcgfs	p.-213fs		NM_016582.2	NP_057666.1	Q8IY34	S15A3_HUMAN	solute carrier family 15 (oligopeptide transporter), member 3						oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			central_nervous_system(1)|kidney(4)|large_intestine(1)|lung(9)|prostate(2)	17						CCACCAGCAGCGACAGCACAGC	0.569													GACA	60714214	-	GACA	60714213	7	5	451	1	0	1	1	0	0	0	0	0	14494	755	27	0	1134	0	SLC15A3	11	60714213	Frame_Shift_Ins	INS	-	TCGA-E1-A7YK-01A-11D-A34A-08		60714213	74292303	38	43496											
USP12	219333	broad.mit.edu	37	chr13	27664086	27664086	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtattcactgcacagagttTctgtgttgctgaaacccctg	8	14	9	10	0	2	2	1	1	1	1	2	2	2	2	2	0	3	5	2	0	2	4			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:27664086T>C	ENST00000282344.6	-	6	924	c.668A>G	c.(667-669)gAa>gGa	p.E223G		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	223					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GCACAGAGTTTCTGTGTTGCT	0.323													C	27664086	T	C	27664086	3	2	451	1	0	0	0	0	1	0	0	0	17145	1783	62	3	460	3	USP12	13	27664086	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		27664086	87505792	39	43497											
BRCA2	675	broad.mit.edu	37	chr13	32913927	32913927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatatttgcgttgaggAacttgtgactagctcttcac	10	14	10	7	1	2	4	1	3	1	1	2	5	2	5	0	1	3	2	0	1	4	6			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:32913927A>G	ENST00000544455.1	+	11	5662	c.5435A>G	c.(5434-5436)gAa>gGa	p.E1812G	BRCA2_ENST00000380152.3_Missense_Mutation_p.E1812G	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1812					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TGCGTTGAGGAACTTGTGACT	0.343			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G	32913927	A	G	32913927	3	3	451	1	0	0	0	0	1	0	0	0	1508	246	9	3	5473	3	BRCA2	13	32913927	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	5249841	32913927	82255951	40	43498											
INTS6	26512	broad.mit.edu	37	chr13	51953635	51953638	+	Frame_Shift_Del	DEL	TAAC	TAAC	-																															tgaggtatgaaatgacactgTaactaagtccatattccata																										TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:51953635_51953638delTAAC	ENST00000311234.4	-	11	1818_1821	c.1346_1349delGTTA	c.(1345-1350)agttacfs	p.SY449fs	INTS6_ENST00000490542.1_Frame_Shift_Del_p.SY133fs|INTS6_ENST00000398119.2_Frame_Shift_Del_p.SY436fs|INTS6_ENST00000463928.1_Intron|INTS6_ENST00000425000.1_Frame_Shift_Del_p.SY17fs|INTS6_ENST00000497989.1_Frame_Shift_Del_p.SY271fs	NM_012141.2	NP_036273.1	Q9UL03	INT6_HUMAN	integrator complex subunit 6	449					snRNA processing	actin cytoskeleton|integrator complex	protein binding|transmembrane receptor activity			NS(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Breast(56;0.000286)|Lung NSC(96;0.00145)|Prostate(109;0.00403)|Hepatocellular(98;0.065)|Myeloproliferative disorder(33;0.163)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;7.7e-08)		AATGACACTGTAACTAAGTCCATA	0.353													-	51953638	TAAC	-	51953635	7	5	451	1	0	1	0	1	0	0	0	0	7840	1638	57	0	1346	0	INTS6	13	51953635	Frame_Shift_Del	DEL	TAAC	TCGA-E1-A7YK-01A-11D-A34A-08	19039708	51953635	63216243	41	43499											
TMTC4	84899	broad.mit.edu	37	chr13	101257376	101257376	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttggccaagtctagatgtcCccaacgatgataaagcacag	13	8	9	11	1	1	2	0	1	1	1	2	3	2	2	3	1	2	1	3	1	5	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr13:101257376C>A	ENST00000342624.5	-	19	2413	c.2155G>T	c.(2155-2157)Gga>Tga	p.G719*	TMTC4_ENST00000328767.5_Nonsense_Mutation_p.G589*|TMTC4_ENST00000376234.3_Nonsense_Mutation_p.G700*	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	700						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCTAGATGTCCCCAACGATGA	0.448													A	101257376	C	A	101257376	4	1	451	1	0	0	0	0	0	1	0	0	16363	632	22	4	131	4	TMTC4	13	101257376	Nonsense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	49303741	101257376	13912502	42	43500											
ARHGAP5	394	broad.mit.edu	37	chr14	32563045	32563045	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaaaaaactcgatccaaAccttttaaaaacaattgaag	19	10	5	7	1	0	2	0	2	0	0	2	3	1	2	2	0	3	0	2	0	9	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:32563045A>C	ENST00000345122.3	+	2	3485	c.3170A>C	c.(3169-3171)aAc>aCc	p.N1057T	ARHGAP5_ENST00000433497.1_Intron|ARHGAP5_ENST00000539826.2_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000432921.1_Missense_Mutation_p.N1057T|ARHGAP5_ENST00000396582.2_Intron|ARHGAP5_ENST00000556611.1_Missense_Mutation_p.N1057T	NM_001030055.1	NP_001025226.1	Q13017	RHG05_HUMAN	Rho GTPase activating protein 5	1057					cell adhesion|Rho protein signal transduction	cytosol|membrane	GTP binding|GTPase activity|Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(10)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(12)|ovary(4)|skin(1)|stomach(1)|urinary_tract(4)	55	Hepatocellular(127;0.0604)|Prostate(35;0.15)|Breast(36;0.186)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.00714)|BRCA - Breast invasive adenocarcinoma(188;0.0952)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00566)		CTCGATCCAAACCTTTTAAAA	0.408													C	32563045	A	C	32563045	3	2	451	1	0	0	0	0	1	0	0	0	889	43	2	5	3172	5	ARHGAP5	14	32563045	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08		32563045	74786495	43	43501											
RALGAPA1	253959	broad.mit.edu	37	chr14	36125042	36125042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacacaaatcacattcagagCttccttaatttgaggatgat	15	12	6	8	0	2	3	2	2	0	1	3	4	3	4	1	1	2	1	1	1	3	4			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:36125042C>G	ENST00000258840.6	-	29	4480	c.4090G>C	c.(4090-4092)Gct>Cct	p.A1364P	RALGAPA1_ENST00000389698.3_Missense_Mutation_p.A1317P|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.A1330P|RALGAPA1_ENST00000307138.6_Missense_Mutation_p.A1317P	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1317	Minimal domain that binds to TCF3/E12 (By similarity).				activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACATTCAGAGCTTCCTTAATT	0.318													G	36125042	C	G	36125042	3	3	451	1	0	0	0	0	1	0	0	0	13101	797	28	4	2366	4	RALGAPA1	14	36125042	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	3561997	36125042	71224498	44	43502											
FOXA1	3169	broad.mit.edu	37	chr14	38060667	38060667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggtggtcaccgaggcgCtgcctagaggcaggctggcg	5	7	17	12	3	1	1	1	0	0	1	2	2	2	1	3	6	1	3	3	6	1	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:38060667C>G	ENST00000250448.2	-	2	1383	c.1322G>C	c.(1321-1323)aGc>aCc	p.S441T	FOXA1_ENST00000545425.2_5'UTR|FOXA1_ENST00000540786.1_Missense_Mutation_p.S408T	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	441					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		CACCGAGGCGCTGCCTAGAGG	0.602													G	38060667	C	G	38060667	3	3	451	1	0	0	0	0	1	0	0	0	6038	797	28	4	100	4	FOXA1	14	38060667	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	1935625	38060667	69288873	45	43503											
SPTB	6710	broad.mit.edu	37	chr14	65236307	65236307	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatccttgcagtcccctcaCctcctctgaggcctggtgct	4	11	8	18	0	2	1	1	1	1	0	5	1	5	1	7	2	2	2	7	2	0	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr14:65236307C>T	ENST00000389722.3	-	27	5991		c.e27+1		SPTB_ENST00000389721.5_Splice_Site|SPTB_ENST00000389720.3_Splice_Site|SPTB_ENST00000556626.1_Splice_Site|SPTB_ENST00000542895.1_Splice_Site	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic						actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		AGTCCCCTCACCTCCTCTGAG	0.627													T	65236307	C	T	65236307	5	4	451	1	0	0	0	0	0	0	1	0	15214	521	18	2	1153	2	SPTB	14	65236307	Splice_Site	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	27175640	65236307	42113233	46	43504											
MYEF2	50804	broad.mit.edu	37	chr15	48443720	48443720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttattccaatatcaccaCgtccaaaatctcgctccatg	12	12	4	13	2	2	0	1	0	1	0	6	1	5	0	4	0	0	1	4	0	5	4			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:48443720C>A	ENST00000324324.7	-	13	1535	c.1256G>T	c.(1255-1257)cGt>cTt	p.R419L	MYEF2_ENST00000267836.6_Missense_Mutation_p.R419L	NM_016132.3	NP_057216	Q9P2K5	MYEF2_HUMAN	myelin expression factor 2	419	Gly-rich.				transcription, DNA-dependent	Golgi apparatus|nucleus	DNA binding|nucleotide binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(8)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		all_lung(180;0.00217)		all cancers(107;3.73e-10)|GBM - Glioblastoma multiforme(94;7.81e-07)		AATATCACCACGTCCAAAATC	0.383													A	48443720	C	A	48443720	3	1	451	1	0	0	0	0	1	0	0	0	10100	536	19	4	566	4	MYEF2	15	48443720	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		48443720	54087672	47	43505											
ACAN	176	broad.mit.edu	37	chr15	89392715	89392715	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcagttcaccttccaggaAgcactggagttctgtgaatc	10	10	11	10	0	2	1	1	1	1	0	4	4	3	3	2	2	2	4	2	2	2	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr15:89392715A>G	ENST00000439576.2	+	10	2153	c.1779A>G	c.(1777-1779)gaA>gaG	p.E593E	ACAN_ENST00000352105.7_Silent_p.E593E|ACAN_ENST00000559004.1_Silent_p.E593E|ACAN_ENST00000558207.1_Silent_p.E593E|ACAN_ENST00000561243.1_Silent_p.E593E	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	593					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CCTTCCAGGAAGCACTGGAGT	0.632													G	89392715	A	G	89392715	2	3	451	1	0	0	0	0	0	0	0	1	117	69	3	3		3	ACAN	15	89392715	Silent	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	40948995	89392715	13138677	48	43506											
ACSM1	116285	broad.mit.edu	37	chr16	20638625	20638625	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacattccactttagctgtcTtctctgggtcaccctgcaaa	8	13	6	14	0	3	0	1	0	2	0	5	0	4	0	2	1	2	2	2	1	2	4			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:20638625T>C	ENST00000219151.4	-	11	1476	c.266A>G	c.(265-267)aAg>aGg	p.K89R	ACSM1_ENST00000520010.1_Missense_Mutation_p.K438R|ACSM1_ENST00000307493.4_Missense_Mutation_p.K438R			Q08AH1	ACSM1_HUMAN	acyl-CoA synthetase medium-chain family member 1	438					benzoate metabolic process|butyrate metabolic process|energy derivation by oxidation of organic compounds|fatty acid oxidation|xenobiotic metabolic process	mitochondrial matrix	acyl-CoA ligase activity|ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(23)|skin(3)|upper_aerodigestive_tract(2)	42						TTTAGCTGTCTTCTCTGGGTC	0.473													C	20638625	T	C	20638625	3	2	451	1	0	0	0	0	1	0	0	0	182	1609	56	3	436	3	ACSM1	16	20638625	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		20638625	69716128	49	43507											
DNAH3	55567	broad.mit.edu	37	chr16	21147795	21147795	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcctcaggggcaatcaTgtctttgcgaattccattgg	8	12	9	12	1	3	0	2	0	1	0	5	1	5	0	3	3	1	1	3	3	2	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr16:21147795T>A	ENST00000261383.3	-	6	735	c.736A>T	c.(736-738)Atg>Ttg	p.M246L	DNAH3_ENST00000415178.1_Missense_Mutation_p.M246L	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	246	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GGGGCAATCATGTCTTTGCGA	0.473													A	21147795	T	A	21147795	3	1	451	1	0	0	0	0	1	0	0	0	4642	1464	51	5	11841	5	DNAH3	16	21147795	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	509170	21147795	69206958	50	43508											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	451	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08		7577121	73618089	51	43509											
ITGB4	3691	broad.mit.edu	37	chr17	73738764	73738764	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgacgagaagcagctgctgGtggaggccatcgacgtgccc	9	5	15	12	4	0	1	0	0	0	1	1	5	0	2	2	3	4	3	2	3	1	0			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:73738764G>T	ENST00000200181.3	+	25	3071	c.2884G>T	c.(2884-2886)Gtg>Ttg	p.V962L	ITGB4_ENST00000339591.3_Missense_Mutation_p.V962L|ITGB4_ENST00000579662.1_Missense_Mutation_p.V962L|ITGB4_ENST00000450894.3_Missense_Mutation_p.V962L|ITGB4_ENST00000449880.2_Missense_Mutation_p.V962L	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	962					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCAGCTGCTGGTGGAGGCCAT	0.657													T	73738764	G	T	73738764	3	4	451	1	0	0	0	0	1	0	0	0	7955	1261	44	4	2978	4	ITGB4	17	73738764	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	66161643	73738764	7456446	52	43510											
ENGASE	64772	broad.mit.edu	37	chr17	77075619	77075619	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctatgctttctaccactgGcagtgcatcgacgtctttgt	6	14	8	13	2	2	0	0	0	2	0	3	1	2	0	2	1	3	3	2	1	2	4			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr17:77075619G>T	ENST00000579016.1	+	4	465	c.465G>T	c.(463-465)tgG>tgT	p.W155C	ENGASE_ENST00000539857.2_Intron	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	155						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						TCTACCACTGGCAGTGCATCG	0.582													T	77075619	G	T	77075619	3	4	451	1	0	0	0	0	1	0	0	0	5159	1212	42	4	479	4	ENGASE	17	77075619	Missense_Mutation	SNP	G	TCGA-E1-A7YK-01A-11D-A34A-08	3336855	77075619	4119591	53	43511											
NETO1	81832	broad.mit.edu	37	chr18	70526300	70526300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaagttcaatgcactgtCttggagcggctgtaaagaag	13	10	12	6	1	2	1	1	0	1	1	2	2	2	2	0	2	2	5	0	2	6	4			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr18:70526300C>A	ENST00000327305.6	-	4	887	c.230G>T	c.(229-231)aGa>aTa	p.R77I	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Missense_Mutation_p.R76I|NETO1_ENST00000583169.1_Missense_Mutation_p.R77I|NETO1_ENST00000397929.1_Missense_Mutation_p.R76I	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	77	CUB 1.				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		AATGCACTGTCTTGGAGCGGC	0.368													A	70526300	C	A	70526300	3	1	451	1	0	0	0	0	1	0	0	0	10415	913	32	4	1408	4	NETO1	18	70526300	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		70526300	7550948	54	43512											
SIN3B	23309	broad.mit.edu	37	chr19	16973733	16973733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggttcgtggacagaCgattactgcatgtccaagtt	9	11	11	10	2	0	1	0	0	0	1	3	3	2	2	2	2	2	3	2	2	2	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:16973733C>T	ENST00000379803.1	+	10	1319	c.1305C>T	c.(1303-1305)gaC>gaT	p.D435D	SIN3B_ENST00000248054.5_Intron	NM_015260.2	NP_056075.1	O75182	SIN3B_HUMAN	SIN3 transcription regulator family member B	435	Interaction with NCOR1 (By similarity).|Interaction with SDS3 and HDAC1 (By similarity).				cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	protein binding			endometrium(4)|kidney(2)|large_intestine(8)|lung(8)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	26						CGTGGACAGACGATTACTGCA	0.537													T	16973733	C	T	16973733	2	4	451	1	0	0	0	0	0	0	0	1	14420	535	19	1		1	SIN3B	19	16973733	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		16973733	42155250	55	43513											
LRP3	4037	broad.mit.edu	37	chr19	33687643	33687643	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtatctcccacagtgaacatCtttctcaccgggagactcag	10	10	8	13	1	4	2	2	1	3	1	6	3	4	2	2	1	1	1	2	1	2	2			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:33687643C>G	ENST00000253193.7	+	2	283	c.81C>G	c.(79-81)atC>atG	p.I27M		NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	27					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					CAGTGAACATCTTTCTCACCG	0.552													G	33687643	C	G	33687643	3	3	451	1	0	0	0	0	1	0	0	0	9028	903	32	4	87	4	LRP3	19	33687643	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	16713910	33687643	25441340	56	43514											
ZNF790	388536	broad.mit.edu	37	chr19	37314666	37314666	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcctcctgagagaaatcTacagccacatccctgaacat	13	8	5	15	0	1	3	0	2	1	1	4	4	4	3	4	0	3	0	4	0	3	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:37314666T>G	ENST00000356725.4	-	3	156	c.36A>C	c.(34-36)gtA>gtC	p.V12V	CTD-2162K18.5_ENST00000587278.1_RNA|CTD-2162K18.5_ENST00000588906.1_RNA	NM_001242802.1|NM_206894.3	NP_001229731.1|NP_996777.2	Q6PG37	ZN790_HUMAN	zinc finger protein 790	12	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	32	Esophageal squamous(110;0.183)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			GAGAGAAATCTACAGCCACAT	0.393													G	37314666	T	G	37314666	2	3	451	1	0	0	0	0	0	0	0	1	18261	1509	53	5		5	ZNF790	19	37314666	Silent	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08	3627023	37314666	21814317	57	43515											
RYR1	6261	broad.mit.edu	37	chr19	38990562	38990562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctttggtgaggaacCgcctgaagaaaaccgggtgc	10	7	14	10	2	0	3	0	2	0	1	0	4	0	4	3	3	5	2	3	3	4	1	rs145787667		TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:38990562C>T	ENST00000355481.4	+	45	7360	c.7229C>T	c.(7228-7230)cCg>cTg	p.P2410L	RYR1_ENST00000359596.3_Missense_Mutation_p.P2410L|RYR1_ENST00000360985.3_Missense_Mutation_p.P2410L	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2410	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GGTGAGGAACCGCCTGAAGAA	0.632													T	38990562	C	T	38990562	3	4	451	1	0	0	0	0	1	0	0	0	13859	652	23	1	7407	1	RYR1	19	38990562	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	1675896	38990562	20138421	58	43516											
AXL	558	broad.mit.edu	37	chr19	41727878	41727878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcagggacccccagagcCcgtggacctactctggctcc	7	6	11	17	1	2	1	1	0	1	1	3	3	3	3	5	3	3	2	5	3	1	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:41727878C>T	ENST00000301178.4	+	4	693	c.503C>T	c.(502-504)cCc>cTc	p.P168L	AXL_ENST00000594880.1_3'UTR|AXL_ENST00000359092.3_Missense_Mutation_p.P168L|CTD-2195B23.3_ENST00000598541.1_RNA	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	168	Ig-like C2-type 2.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						CCCCCAGAGCCCGTGGACCTA	0.662													T	41727878	C	T	41727878	3	4	451	1	0	0	0	0	1	0	0	0	1243	623	22	2	517	2	AXL	19	41727878	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	2737316	41727878	17401105	59	43517											
ZNF304	57343	broad.mit.edu	37	chr19	57868714	57868714	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaagacacacttgtgcaaCaccaaaaaatccacactgga	18	6	6	11	0	0	1	0	0	0	1	1	2	1	2	2	1	2	2	2	1	6	2			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr19:57868714C>A	ENST00000391705.3	+	4	1761	c.1477C>A	c.(1477-1479)Cac>Aac	p.H493N	ZNF304_ENST00000443917.2_Missense_Mutation_p.H540N|ZNF304_ENST00000282286.5_Missense_Mutation_p.H493N|ZNF304_ENST00000598744.1_Missense_Mutation_p.H451N	NM_020657.2	NP_065708.2	Q9HCX3	ZN304_HUMAN	zinc finger protein 304	493					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)	26		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0265)		ACTTGTGCAACACCAAAAAAT	0.453													A	57868714	C	A	57868714	3	1	451	1	0	0	0	0	1	0	0	0	17934	478	17	4	1487	4	ZNF304	19	57868714	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	16140836	57868714	1260269	60	43518											
ZNF343	79175	broad.mit.edu	37	chr20	2473382	2473382	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtaattctccagcatcacTtctttgtatagattcctctg	8	17	5	11	0	4	1	1	0	3	1	6	1	5	1	2	0	1	3	2	0	3	7			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chr20:2473382T>G	ENST00000278772.4	-	5	754	c.267A>C	c.(265-267)gaA>gaC	p.E89D	ZNF343_ENST00000381253.1_Missense_Mutation_p.E89D|ZNF343_ENST00000358413.2_Missense_Mutation_p.E89D|RP4-734P14.4_ENST00000461548.1_Missense_Mutation_p.E89D	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	89	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CCAGCATCACTTCTTTGTATA	0.403													G	2473382	T	G	2473382	3	3	451	1	0	0	0	0	1	0	0	0	17959	1606	56	5	1540	5	ZNF343	20	2473382	Missense_Mutation	SNP	T	TCGA-E1-A7YK-01A-11D-A34A-08		2473382	60552138	61	43519											
FAM47A	158724	broad.mit.edu	37	chrX	34148669	34148669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcttttatgtaggatgctCgaatcttgggaggctccgag	7	14	13	7	2	2	0	0	0	2	0	4	4	3	2	1	3	1	4	1	3	3	5			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:34148669C>T	ENST00000346193.3	-	1	1778	c.1727G>A	c.(1726-1728)cGa>cAa	p.R576Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	576								p.R576Q(2)		NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GTAGGATGCTCGAATCTTGGG	0.512													T	34148669	C	T	34148669	3	4	451	1	0	0	0	0	1	0	0	0	5620	884	31	1	652	1	FAM47A	23	34148669	Missense_Mutation	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08		34148669	121121891	62	43520											
ATRX	546	broad.mit.edu	37	chrX	76889115	76889115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaattcattcatccaattcAaagcagtattaagaggacaa	18	10	5	8	0	3	1	3	0	0	1	4	2	4	2	1	1	1	2	1	1	6	5			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889115A>G	ENST00000373344.5	-	18	5109	c.4895T>C	c.(4894-4896)tTg>tCg	p.L1632S	ATRX_ENST00000395603.3_Missense_Mutation_p.L1594S|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1632	Helicase ATP-binding.			L -> F (in Ref. 7; AAC50069).	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)	CATCCAATTCAAAGCAGTATT	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76889115	A	G	76889115	3	3	451	1	0	0	0	0	1	0	0	0	1213	131	5	3	2655	3	ATRX	23	76889115	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	42740446	76889115	78381445	63	43521											
ATRX	546	broad.mit.edu	37	chrX	76889175	76889175	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatccagtttgtcacacaaaAgaactgtatgaagaaaactt	18	10	6	7	0	1	3	1	1	0	2	2	3	2	3	1	0	2	2	1	0	8	3			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:76889175A>G	ENST00000373344.5	-	18	5049	c.4835T>C	c.(4834-4836)cTt>cCt	p.L1612P	ATRX_ENST00000395603.3_Missense_Mutation_p.L1574P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1612	Helicase ATP-binding.				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)	GTCACACAAAAGAACTGTATG	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76889175	A	G	76889175	3	3	451	1	0	0	0	0	1	0	0	0	1213	72	3	3	2715	3	ATRX	23	76889175	Missense_Mutation	SNP	A	TCGA-E1-A7YK-01A-11D-A34A-08	60	76889175	78381385	64	43522											
FAM127C	441518	broad.mit.edu	37	chrX	134156373	134156373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcacgatgaactccgggagCcggtcggtatcgccatcaaa	10	7	12	12	5	1	1	1	1	0	0	4	3	2	2	3	3	3	2	3	3	3	1			TCGA-E1-A7YK-01A-11D-A34A-08	TCGA-E1-A7YK-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4b1cdb2e-1f87-4f81-b2e1-ccf5b7a821ac	da6047b6-cbe7-4459-a498-06489d228a5f	g.chrX:134156373C>T	ENST00000391440.1	-	1	186	c.117G>A	c.(115-117)cgG>cgA	p.R39R		NM_001078173.1	NP_001071641.1	Q17RB0	F127C_HUMAN	family with sequence similarity 127, member C	39										breast(1)|endometrium(2)|large_intestine(1)|lung(2)	6	Acute lymphoblastic leukemia(192;0.000127)					ACTCCGGGAGCCGGTCGGTAT	0.632													T	134156373	C	T	134156373	2	4	451	1	0	0	0	0	0	0	0	1	5478	726	26	2		2	FAM127C	23	134156373	Silent	SNP	C	TCGA-E1-A7YK-01A-11D-A34A-08	57267198	134156373	21114187	65	43523											
AKR7L	246181	broad.mit.edu	37	chr1	19596152	19596152	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctccgtttccacctgccGggtggtggcgctgtacatgc	4	10	14	13	3	0	0	0	0	0	0	2	1	2	0	4	3	4	4	4	3	1	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:19596152G>A	ENST00000420396.2	-	0	507				AKR7L_ENST00000429712.1_RNA					aldo-keto reductase family 7-like											breast(1)|endometrium(2)|ovary(1)|prostate(1)|urinary_tract(1)	6						TCCACCTGCCGGGTGGTGGCG	0.562													A	19596152	G	A	19596152	1	1	452	0	1	0	0	0	0	0	0	0	477	1115	39	1		1	AKR7L	1	19596152	RNA	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		19596152	229654469	1	43524											
TRIT1	54802	broad.mit.edu	37	chr1	40315879	40315879	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcttccgtatgttgAcgatggagaaattcactatg	10	13	8	10	2	2	2	1	1	1	1	3	4	3	2	3	1	0	2	3	1	3	6			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:40315879A>G	ENST00000316891.5	-	5	629	c.615T>C	c.(613-615)cgT>cgC	p.R205R	TRIT1_ENST00000537440.1_5'UTR|TRIT1_ENST00000537223.1_Intron|TRIT1_ENST00000441669.2_Silent_p.R125R|TRIT1_ENST00000545233.1_5'UTR|TRIT1_ENST00000372818.1_Silent_p.R205R|TRIT1_ENST00000491865.1_Intron|TRIT1_ENST00000541099.1_Intron	NM_017646.4	NP_060116.2	Q9H3H1	MOD5_HUMAN	tRNA isopentenyltransferase 1	205					tRNA processing	mitochondrion	ATP binding|metal ion binding|tRNA dimethylallyltransferase activity			breast(1)|large_intestine(5)|liver(1)|lung(3)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(1)	15	all_cancers(7;4.55e-14)|all_lung(5;1.23e-16)|all_epithelial(6;2.17e-16)|Lung NSC(20;7.03e-07)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;3.29e-18)|Epithelial(16;3.07e-17)|all cancers(16;6.21e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			CCGTATGTTGACGATGGAGAA	0.473													G	40315879	A	G	40315879	2	3	452	1	0	0	0	0	0	0	0	1	16661	262	10	3		3	TRIT1	1	40315879	Silent	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	20719727	40315879	208934742	2	43525											
SPATA6	54558	broad.mit.edu	37	chr1	48764519	48764519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgccctgttggaccagtAttcaccgtcatccaaatgga	9	10	10	12	1	2	0	2	0	0	0	3	2	3	2	4	3	1	3	4	3	2	3	rs138130686		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764519A>G	ENST00000371847.3	-	13	1497	c.1333T>C	c.(1333-1335)Tac>Cac	p.Y445H	SPATA6_ENST00000371843.3_Missense_Mutation_p.Y429H|SPATA6_ENST00000396199.3_Missense_Mutation_p.Y373H	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	445					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TTGGACCAGTATTCACCGTCA	0.413													G	48764519	A	G	48764519	3	3	452	1	0	0	0	0	1	0	0	0	15109	449	16	3	137	3	SPATA6	1	48764519	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	8448640	48764519	200486102	3	43526			1	59		2	2	27	N	C_A	5.962983e-05
SPATA6	54558	broad.mit.edu	37	chr1	48764545	48764545	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgtcatccaaatggaaagtgCcacgtggctgctgacatgag	11	8	12	10	2	1	2	1	2	0	0	2	3	2	3	2	2	2	2	2	2	2	0			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:48764545C>G	ENST00000371847.3	-	13	1471	c.1307G>C	c.(1306-1308)gGc>gCc	p.G436A	SPATA6_ENST00000371843.3_Missense_Mutation_p.G420A|SPATA6_ENST00000396199.3_Missense_Mutation_p.G364A	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	436					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						ATGGAAAGTGCCACGTGGCTG	0.388													G	48764545	C	G	48764545	3	3	452	1	0	0	0	0	1	0	0	0	15109	739	26	4	163	4	SPATA6	1	48764545	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	26	48764545	200486076	4	43527			1	59		2	2	27	N	C_A	5.962983e-05
NRD1	4898	broad.mit.edu	37	chr1	52258075	52258075	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagctccataagcgtatattCtcttagactcctggtacctg	9	13	7	12	1	1	1	0	0	1	1	4	1	3	1	3	1	3	3	3	1	5	6			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52258075C>G	ENST00000354831.7	-	27	3190	c.3001G>C	c.(3001-3003)Gaa>Caa	p.E1001Q	NRD1_ENST00000539524.1_Missense_Mutation_p.E869Q|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Missense_Mutation_p.E933Q	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	932					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						AGCGTATATTCTCTTAGACTC	0.473													G	52258075	C	G	52258075	3	3	452	1	0	0	0	0	1	0	0	0	10721	922	32	4	686	4	NRD1	1	52258075	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	3493530	52258075	196992546	5	43528											
NRD1	4898	broad.mit.edu	37	chr1	52260509	52260509	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttactcaacaacatatttCaggaaatccatagattccta	16	12	3	10	0	2	1	2	0	0	1	4	2	4	2	2	1	3	0	2	1	7	6			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:52260509C>A	ENST00000354831.7	-	25	3015	c.2826G>T	c.(2824-2826)ctG>ctT	p.L942L	NRD1_ENST00000544028.1_3'UTR|NRD1_ENST00000539524.1_Silent_p.L810L|RP4-657D16.3_ENST00000586761.1_RNA|RP4-657D16.3_ENST00000588291.1_RNA|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000352171.7_Silent_p.L874L	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	873					cell migration|cell proliferation|neuromuscular junction development|positive regulation of membrane protein ectodomain proteolysis|proteolysis|regulation of endopeptidase activity	cell surface|cytosol	epidermal growth factor binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						CAACATATTTCAGGAAATCCA	0.358													A	52260509	C	A	52260509	2	1	452	1	0	0	0	0	0	0	0	1	10721	813	29	4		4	NRD1	1	52260509	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	2434	52260509	196990112	6	43529											
TGFBR3	7049	broad.mit.edu	37	chr1	92182170	92182170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaagcatctccttcatcCatatctcccggaaatccatt	11	11	6	13	1	3	0	1	0	2	0	7	2	5	2	4	2	1	1	4	2	3	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:92182170C>T	ENST00000212355.4	-	11	2127	c.1662G>A	c.(1660-1662)atG>atA	p.M554I	TGFBR3_ENST00000370399.2_Missense_Mutation_p.M553I|TGFBR3_ENST00000525962.1_Missense_Mutation_p.M554I	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	554	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		CTCCTTCATCCATATCTCCCG	0.463													T	92182170	C	T	92182170	3	4	452	1	0	0	0	0	1	0	0	0	15923	594	21	2	921	2	TGFBR3	1	92182170	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	39921661	92182170	157068451	7	43530											
PTPN22	26191	broad.mit.edu	37	chr1	114380493	114380493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttacattagaggcattaCgtatttggtgtttagagtca	10	16	10	5	1	1	2	1	0	0	2	1	2	1	2	0	2	2	4	0	2	5	8			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:114380493C>T	ENST00000359785.5	-	13	1664	c.1529G>A	c.(1528-1530)cGt>cAt	p.R510H	PTPN22_ENST00000538253.1_Missense_Mutation_p.R266H|PTPN22_ENST00000525799.1_Missense_Mutation_p.R383H|PTPN22_ENST00000528414.1_Missense_Mutation_p.R455H|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Missense_Mutation_p.R510H	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)	510					negative regulation of T cell activation|negative regulation of T cell receptor signaling pathway|phosphoanandamide dephosphorylation|regulation of B cell receptor signaling pathway|regulation of natural killer cell proliferation|T cell differentiation	internal side of plasma membrane|nucleus|perinuclear region of cytoplasm	kinase binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGGCATTACGTATTTGGTG	0.368													T	114380493	C	T	114380493	3	4	452	1	0	0	0	0	1	0	0	0	12875	536	19	1	953	1	PTPN22	1	114380493	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	22198323	114380493	134870128	8	43531											
IGSF3	3321	broad.mit.edu	37	chr1	117122291	117122291	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgtcgtcgtcgtcgtcCtcctcctcctcctcctccct	0	14	6	21	6	0	0	0	0	0	0	13	0	7	0	7	0	0	0	7	0	0	0			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:117122291C>G	ENST00000369486.3	-	10	3822	c.3057G>C	c.(3055-3057)gaG>gaC	p.E1019D	IGSF3_ENST00000318837.6_Missense_Mutation_p.E1039D|IGSF3_ENST00000369483.1_Missense_Mutation_p.E1039D	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	1019	Ig-like C2-type 8.					integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		cgtcgtcgtcctcctcctcct	0.637													G	117122291	C	G	117122291	3	3	452	1	0	0	0	0	1	0	0	0	7659	680	24	4	535	4	IGSF3	1	117122291	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	2741798	117122291	132128330	9	43532											
MRPS21	54460	broad.mit.edu	37	chr1	150266802	150266802	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatggcaaaacatctgAagttcatcgccaggactgtg	12	9	11	9	1	3	1	2	1	1	0	4	2	3	2	1	3	1	2	1	3	3	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:150266802A>C	ENST00000369084.5	+	1	463	c.16A>C	c.(16-18)Aag>Cag	p.K6Q	MRPS21_ENST00000309092.7_Missense_Mutation_p.K6Q	NM_018997.3	NP_061870.1	P82921	RT21_HUMAN	mitochondrial ribosomal protein S21	6					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			kidney(1)|large_intestine(1)|lung(1)|pancreas(1)	4	Lung NSC(24;5.57e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AAAACATCTGAAGTTCATCGC	0.463													C	150266802	A	C	150266802	3	2	452	1	0	0	0	0	1	0	0	0	9908	247	9	5	18	5	MRPS21	1	150266802	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	33144511	150266802	98983819	10	43533											
PFKFB2	5208	broad.mit.edu	37	chr1	207245685	207245685	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcccctcagccctctccGtgcccaggacatgcaagaag	10	5	9	17	1	2	1	1	0	1	1	3	2	2	2	5	1	4	1	5	1	3	0			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:207245685G>C	ENST00000367080.3	+	15	1611	c.1487G>C	c.(1486-1488)cGt>cCt	p.R496P	PFKFB2_ENST00000541914.1_Intron|PFKFB2_ENST00000367079.2_Intron|PFKFB2_ENST00000473310.1_Intron|PFKFB2_ENST00000411990.2_Intron|PFKFB2_ENST00000545806.1_Missense_Mutation_p.R463P	NM_006212.2	NP_006203.2	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	496	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					AGCCCTCTCCGTGCCCAGGAC	0.572													C	207245685	G	C	207245685	3	2	452	1	0	0	0	0	1	0	0	0	11838	1145	40	4	1541	4	PFKFB2	1	207245685	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	56978883	207245685	42004936	11	43534											
OR2T12	127064	broad.mit.edu	37	chr1	248458221	248458221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcatgagcagaacagcagcGaggatgagaccataggagga	15	3	15	8	2	0	3	0	2	0	2	0	8	0	6	1	3	4	3	1	3	2	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr1:248458221G>A	ENST00000317996.1	-	1	659	c.660C>T	c.(658-660)ctC>ctT	p.L220L		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GAACAGCAGCGAGGATGAGAC	0.532													A	248458221	G	A	248458221	2	1	452	1	0	0	0	0	0	0	0	1	11095	1045	37	1		1	OR2T12	1	248458221	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	41212536	248458221	792400	12	43535											
ATAD2B	54454	broad.mit.edu	37	chr2	23974944	23974944	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtctcaaacatatgaactGttctttccatctcctataaa	13	15	3	10	0	3	1	1	1	3	0	6	1	4	1	2	0	2	1	2	0	6	5			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:23974944G>T	ENST00000238789.5	-	28	4692	c.4349C>A	c.(4348-4350)aCa>aAa	p.T1450K	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	1450							ATP binding|nucleoside-triphosphatase activity			central_nervous_system(1)	1	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATATGAACTGTTCTTTCCAT	0.348													T	23974944	G	T	23974944	3	4	452	1	0	0	0	0	1	0	0	0	1077	1377	48	4	31	4	ATAD2B	2	23974944	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		23974944	219224429	13	43536											
HK2	3099	broad.mit.edu	37	chr2	75113620	75113620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgtgattggcaggcaCgggcagcaatgcctgctaca	9	9	12	11	1	0	1	0	1	0	0	1	1	1	1	2	3	4	5	2	3	3	3	rs138539339		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:75113620C>T	ENST00000290573.2	+	15	2639	c.2039C>T	c.(2038-2040)aCg>aTg	p.T680M	HK2_ENST00000409174.1_Missense_Mutation_p.T652M	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	680	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						TTGGCAGGCACGGGCAGCAAT	0.597													T	75113620	C	T	75113620	3	4	452	1	0	0	0	0	1	0	0	0	7246	536	19	1	2097	1	HK2	2	75113620	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	51138676	75113620	168085753	14	43537											
CACNB4	785	broad.mit.edu	37	chr2	152955496	152955496	+	Frame_Shift_Del	DEL	C	C	-																															gagtgcggcccgtccgcggtCccgttcttggcgtaggagga																										TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:152955496delC	ENST00000539935.1	-	1	97	c.30delG	c.(28-30)gggfs	p.G10fs	AC079790.2_ENST00000420365.1_RNA|CACNB4_ENST00000201943.5_Frame_Shift_Del_p.G10fs	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	10					axon guidance|membrane depolarization|synaptic transmission	cytosol|internal side of plasma membrane|plasma membrane|synapse|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Verapamil(DB00661)	CGTCCGCGGTCCCGTTCTTGG	0.716													-	152955496	C	-	152955496	7	5	452	1	0	1	0	1	0	0	0	0	2581	842	30	0	1650	0	CACNB4	2	152955496	Frame_Shift_Del	DEL	C	TCGA-E1-A7YL-01A-11D-A34A-08	77841876	152955496	90243877	15	43538											
TTN	7273	broad.mit.edu	37	chr2	179591950	179591950	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtcaatgaaagtcattctGtacttatcactggctggaag	12	12	10	7	0	4	1	3	1	1	0	4	3	4	2	0	2	1	2	0	2	5	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr2:179591950G>T	ENST00000589042.1	-	69	20366	c.20142C>A	c.(20140-20142)taC>taA	p.Y6714*	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.Y6397*|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y5470*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6397	Ig-like 48.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGTCATTCTGTACTTATCAC	0.458													T	179591950	G	T	179591950	4	4	452	1	0	0	0	0	0	1	0	0	16837	1372	48	4	84563	4	TTN	2	179591950	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	26636454	179591950	63607423	16	43539											
ATP2B2	491	broad.mit.edu	37	chr3	10491154	10491154	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggagctcctccattgtgcacCcgaactcgcccccatggctc	6	8	9	18	2	0	0	0	0	0	0	4	2	2	1	5	2	3	3	5	2	1	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:10491154C>A	ENST00000397077.1	-	4	649	c.74G>T	c.(73-75)gGg>gTg	p.G25V	ATP2B2_ENST00000343816.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000360273.2_Missense_Mutation_p.G25V|ATP2B2_ENST00000383800.4_Missense_Mutation_p.G25V|ATP2B2_ENST00000352432.4_Missense_Mutation_p.G25V			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	25					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CATTGTGCACCCGAACTCGCC	0.577													A	10491154	C	A	10491154	3	1	452	1	0	0	0	0	1	0	0	0	1145	623	22	4	3745	4	ATP2B2	3	10491154	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		10491154	187531276	17	43540											
CACNA1D	776	broad.mit.edu	37	chr3	53769491	53769491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcagcgctgccctggcCgcagaggaccccatccgcag	7	4	13	17	3	0	2	0	1	0	1	1	3	1	3	5	2	3	4	5	2	0	0	rs148699423		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:53769491C>T	ENST00000288139.4	+	21	2890	c.2772C>T	c.(2770-2772)gcC>gcT	p.A924A	CACNA1D_ENST00000422281.2_Silent_p.A904A|CACNA1D_ENST00000350061.5_Silent_p.A904A	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CTGCCCTGGCCGCAGAGGACC	0.627													T	53769491	C	T	53769491	2	4	452	1	0	0	0	0	0	0	0	1	2567	639	23	1		1	CACNA1D	3	53769491	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	43278337	53769491	144252939	18	43541											
PLOD2	5352	broad.mit.edu	37	chr3	145796957	145796957	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatccagtttatcacgaacAaaatagttcctttcattcat	13	14	5	9	1	3	0	3	0	0	0	5	2	5	1	2	1	1	2	2	1	5	6			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr3:145796957A>C	ENST00000282903.5	-	13	1623	c.1446T>G	c.(1444-1446)ttT>ttG	p.F482L	PLOD2_ENST00000461497.1_Missense_Mutation_p.F142L|RP11-274H2.2_ENST00000480247.1_RNA|PLOD2_ENST00000494950.1_Missense_Mutation_p.F427L|PLOD2_ENST00000360060.3_Missense_Mutation_p.F482L	NM_182943.2	NP_891988.1	O00469	PLOD2_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 2	482					protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29					Vitamin C(DB00126)	TATCACGAACAAAATAGTTCC	0.378													C	145796957	A	C	145796957	3	2	452	1	0	0	0	0	1	0	0	0	12179	127	5	5	862	5	PLOD2	3	145796957	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	92027466	145796957	52225473	19	43542											
KIT	3815	broad.mit.edu	37	chr4	55589817	55589817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caatgtgtggcagcaggattCccagagcccacaatagattg	12	8	11	10	0	0	2	0	0	0	2	1	3	1	3	2	2	2	2	2	2	3	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:55589817C>A	ENST00000288135.5	+	8	1396	c.1299C>A	c.(1297-1299)ttC>ttA	p.F433L		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	433	Ig-like C2-type 5.				male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGCAGGATTCCCAGAGCCCA	0.458		1	"Mis, O"		"GIST, AML, TGCT, mastocytosis, mucosal melanoma"	"GIST, epithelioma"	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors				A	55589817	C	A	55589817	3	1	452	1	0	0	0	0	1	0	0	0	8387	854	30	4	1329	4	KIT	4	55589817	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		55589817	135564459	20	43543											
MANBA	4126	broad.mit.edu	37	chr4	103585858	103585858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttactgccagtacgagctctCtgatgtttttcacatagagt	9	15	8	9	1	2	2	1	1	1	1	3	3	2	2	1	0	4	3	1	0	3	5			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:103585858C>G	ENST00000226578.4	-	11	1568	c.1469G>C	c.(1468-1470)aGa>aCa	p.R490T	MANBA_ENST00000505239.1_Missense_Mutation_p.R433T	NM_005908.3	NP_005899.3	O00462	MANBA_HUMAN	mannosidase, beta A, lysosomal	490					carbohydrate metabolic process|protein modification process	lysosome	beta-mannosidase activity|cation binding			cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;4.44e-08)		TACGAGCTCTCTGATGTTTTT	0.433													G	103585858	C	G	103585858	3	3	452	1	0	0	0	0	1	0	0	0	9294	913	32	4	1198	4	MANBA	4	103585858	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	47996041	103585858	87568418	21	43544											
DCHS2	54798	broad.mit.edu	37	chr4	155157357	155157360	+	Frame_Shift_Del	DEL	TGAG	TGAG	-																															catgatcataagacattccaTgagtgagaaaacagggtgat																										TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr4:155157357_155157360delTGAG	ENST00000357232.4	-	25	7078_7081	c.7079_7082delCTCA	c.(7078-7083)actcatfs	p.TH2360fs		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 21.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		AGACATTCCATGAGTGAGAAAACA	0.392													-	155157360	TGAG	-	155157357	7	5	452	1	0	1	0	1	0	0	0	0	4322	1464	51	0	1672	0	DCHS2	4	155157357	Frame_Shift_Del	DEL	TGAG	TCGA-E1-A7YL-01A-11D-A34A-08	51571499	155157357	35996919	22	43545											
ANKRD55	79722	broad.mit.edu	37	chr5	55472076	55472076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcactgtgtccgcttgaCgtccagaaaccgcatgcatc	8	10	9	14	3	1	2	1	1	0	1	4	2	3	2	3	0	2	4	3	0	1	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:55472076C>T	ENST00000341048.4	-	4	366	c.215G>A	c.(214-216)cGt>cAt	p.R72H	ANKRD55_ENST00000504958.2_Missense_Mutation_p.R72H|ANKRD55_ENST00000513241.2_Missense_Mutation_p.R43H	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	71										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				GTCCGCTTGACGTCCAGAAAC	0.483													T	55472076	C	T	55472076	3	4	452	1	0	0	0	0	1	0	0	0	681	536	19	1	1665	1	ANKRD55	5	55472076	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		55472076	125443184	23	43546											
ZNF608	57507	broad.mit.edu	37	chr5	123980270	123980273	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															actatcctcttttaatttctTctctctatcaagttcttctg																										TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:123980270_123980273delTCTC	ENST00000306315.5	-	5	4222_4225	c.3787_3790delGAGA	c.(3787-3792)gagaagfs	p.EK1263fs	ZNF608_ENST00000504926.1_Frame_Shift_Del_p.EK836fs	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1263						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TTTAATTTCTTCTCTCTATCAAGT	0.387													-	123980273	TCTC	-	123980270	7	5	452	1	0	1	0	1	0	0	0	0	18135	1792	62	0	768	0	ZNF608	5	123980270	Frame_Shift_Del	DEL	TCTC	TCGA-E1-A7YL-01A-11D-A34A-08	68508194	123980270	56934990	24	43547											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763942	140763942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatcacttattccttggcCgaagacaccatccagggggc	10	8	10	13	1	1	2	1	0	0	2	3	3	3	2	4	3	0	0	4	3	2	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:140763942C>T	ENST00000518325.1	+	1	1476	c.1476C>T	c.(1474-1476)gcC>gcT	p.A492A	PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTCCTTGGCCGAAGACACCA	0.512													T	140763942	C	T	140763942	2	4	452	1	0	0	0	0	0	0	0	1	11635	639	23	1		1	PCDHGA7	5	140763942	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	16783672	140763942	40151318	25	43548											
FAT2	2196	broad.mit.edu	37	chr5	150901599	150901599	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctctgtgacatggaCacggacagacgtcaaagacg	11	7	12	11	3	3	3	1	1	2	2	3	5	3	5	0	2	1	2	0	2	1	0			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:150901599C>G	ENST00000261800.5	-	18	10567	c.10555G>C	c.(10555-10557)Gtc>Ctc	p.V3519L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3519	Cadherin 31.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGACATGGACACGGACAGAC	0.547													G	150901599	C	G	150901599	3	3	452	1	0	0	0	0	1	0	0	0	5739	478	17	4	2518	4	FAT2	5	150901599	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	10137657	150901599	30013661	26	43549											
SOX30	11063	broad.mit.edu	37	chr5	157078524	157078524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctctcatgacctcctccGcctccagcttgcccttctcg	4	12	6	19	2	3	1	1	1	2	0	8	1	6	1	6	0	2	1	6	0	0	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr5:157078524G>A	ENST00000265007.6	-	1	904	c.563C>T	c.(562-564)gCg>gTg	p.A188V	SOX30_ENST00000519442.1_Intron|SOX30_ENST00000311371.5_Missense_Mutation_p.A188V	NM_178424.1	NP_848511.1	O94993	SOX30_HUMAN	SRY (sex determining region Y)-box 30	188					regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|response to corticosteroid stimulus|transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(1)	23	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GACCTCCTCCGCCTCCAGCTT	0.642													A	157078524	G	A	157078524	3	1	452	1	0	0	0	0	1	0	0	0	15046	1087	38	1	1718	1	SOX30	5	157078524	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	6176925	157078524	23836736	27	43550											
LRRC16A	55604	broad.mit.edu	37	chr6	25600786	25600786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacaatggcaattctgaaCggatagaggagataaaaaca	19	6	10	6	1	1	3	0	1	1	2	1	5	1	4	0	3	3	2	0	3	7	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr6:25600786C>T	ENST00000329474.6	+	33	3732	c.3364C>T	c.(3364-3366)Cgg>Tgg	p.R1122W		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1122					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CAATTCTGAACGGATAGAGGA	0.532													T	25600786	C	T	25600786	3	4	452	1	0	0	0	0	1	0	0	0	9041	527	19	1	3494	1	LRRC16A	6	25600786	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		25600786	145514281	28	43551											
DNAH11	8701	broad.mit.edu	37	chr7	21906265	21906265	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcaatgcgccctgacagaAtgacgtatgctctcaggtgg	10	8	13	10	2	1	3	1	2	1	1	2	4	1	3	1	2	3	3	1	2	3	1	rs72658813		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:21906265A>G	ENST00000328843.6	+	72	11726	c.11695A>G	c.(11695-11697)Atg>Gtg	p.M3899V	DNAH11_ENST00000409508.3_Missense_Mutation_p.M3892V			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	3899					microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						CCCTGACAGAATGACGTATGC	0.408									Kartagener syndrome				G	21906265	A	G	21906265	3	3	452	1	0	0	0	0	1	0	0	0	4638	101	4	3	11978	3	DNAH11	7	21906265	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08		21906265	137232398	29	43552											
ZAN	7455	broad.mit.edu	37	chr7	100388502	100388502	+	RNA	DEL	A	A	-																															gcaacagagcaagactgtctAaaaaaaaaaaaaaaaaaaag																								rs5886138		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr7:100388502delA	ENST00000542585.1	+	0	7502				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			aagactgtctaaaaaaaaaaa	0.522													-	100388502	A	-	100388502	6	5	452	0	1	1	0	1	0	0	0	0	17615	377	13	0		0	ZAN	7	100388502	RNA	DEL	A	TCGA-E1-A7YL-01A-11D-A34A-08	78482237	100388502	58750161	30	43553											
ADAM28	10863	broad.mit.edu	37	chr8	24197031	24197031	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaatgaaggtgggtcaaaGtacgggtactgtcgcagagt	12	8	16	5	2	1	2	1	1	0	1	2	3	1	3	0	4	2	3	0	4	5	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:24197031G>A	ENST00000265769.4	+	15	1730	c.1620G>A	c.(1618-1620)aaG>aaA	p.K540K	RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_Silent_p.K287K	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	540	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGGGTCAAAGTACGGGTACT	0.458													A	24197031	G	A	24197031	2	1	452	1	0	0	0	0	0	0	0	1	246	1020	36	2		2	ADAM28	8	24197031	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		24197031	122166991	31	43554											
SCARA5	286133	broad.mit.edu	37	chr8	27779582	27779582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcactgcgcccgccagcGccagcaacgagtctgactgg	7	5	13	16	4	1	1	0	1	1	0	1	2	1	1	3	1	5	3	3	1	1	0			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:27779582G>A	ENST00000354914.3	-	4	907	c.422C>T	c.(421-423)gCg>gTg	p.A141V	SCARA5_ENST00000518030.1_Missense_Mutation_p.A98V|SCARA5_ENST00000301906.4_Missense_Mutation_p.A98V|SCARA5_ENST00000524352.1_Missense_Mutation_p.A141V|SCARA5_ENST00000380385.2_Intron	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	141					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		GCCCGCCAGCGCCAGCAACGA	0.721													A	27779582	G	A	27779582	3	1	452	1	0	0	0	0	1	0	0	0	13972	1087	38	1	1089	1	SCARA5	8	27779582	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	3582551	27779582	118584440	32	43555											
HMBOX1	79618	broad.mit.edu	37	chr8	28906544	28906544	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaacagtgatgatgtcgaCgggaatgactactctgagca	13	9	11	8	2	2	4	1	4	1	0	3	6	2	5	0	1	3	1	0	1	3	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:28906544C>T	ENST00000397358.3	+	10	1808	c.1104C>T	c.(1102-1104)gaC>gaT	p.D368D	HMBOX1_ENST00000517386.1_3'UTR|HMBOX1_ENST00000444075.1_Silent_p.D367D|HMBOX1_ENST00000558662.1_Silent_p.D367D|HMBOX1_ENST00000523613.1_Silent_p.D368D|HMBOX1_ENST00000287701.10_Silent_p.D368D|HMBOX1_ENST00000355231.5_Silent_p.D367D|HMBOX1_ENST00000524238.1_Silent_p.D367D|HMBOX1_ENST00000519047.1_Silent_p.D367D	NM_024567.3	NP_078843.2	Q6NT76	HMBX1_HUMAN	homeobox containing 1	368					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	11		Ovarian(32;0.0192)		KIRC - Kidney renal clear cell carcinoma(542;0.135)|Kidney(114;0.161)		ATGATGTCGACGGGAATGACT	0.532													T	28906544	C	T	28906544	2	4	452	1	0	0	0	0	0	0	0	1	7273	535	19	1		1	HMBOX1	8	28906544	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	1126962	28906544	117457478	33	43556											
VPS13B	157680	broad.mit.edu	37	chr8	100520058	100520058	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcctttcctgtactgaCaagctgaacagacgcacctt	9	12	7	13	1	1	3	0	2	1	1	3	3	3	3	3	0	3	3	3	0	3	4			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:100520058C>G	ENST00000358544.2	+	28	4329	c.4218C>G	c.(4216-4218)gaC>gaG	p.D1406E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Intron	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1406					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTGTACTGACAAGCTGAACA	0.458													G	100520058	C	G	100520058	3	3	452	1	0	0	0	0	1	0	0	0	17292	477	17	4	4518	4	VPS13B	8	100520058	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	71613514	100520058	45843964	34	43557											
GSDMC	56169	broad.mit.edu	37	chr8	130789733	130789733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgtaatataacaaactgaCgtaatttggtggcactcaat	14	13	7	7	2	1	1	1	1	0	0	2	1	1	1	0	2	2	3	0	2	6	6			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr8:130789733C>T	ENST00000276708.4	-	2	982	c.101G>A	c.(100-102)cGt>cAt	p.R34H		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	34						mitochondrion		p.R34H(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						AACAAACTGACGTAATTTGGT	0.403													T	130789733	C	T	130789733	3	4	452	1	0	0	0	0	1	0	0	0	6873	536	19	1	1477	1	GSDMC	8	130789733	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	30269675	130789733	15574289	35	43558											
ST6GALNAC6	30815	broad.mit.edu	37	chr9	130648958	130648960	+	In_Frame_Del	DEL	GGT	GGT	-																															ccttttctcggtgatgaagcGgtggtggttgcccttgcgac																								rs144896495		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr9:130648958_130648960delGGT	ENST00000373146.1	-	7	1099_1101	c.920_922delACC	c.(919-924)caccgc>cgc	p.H307del	ST6GALNAC6_ENST00000373142.1_In_Frame_Del_p.T306del|ST6GALNAC6_ENST00000291839.5_In_Frame_Del_p.H307del|ST6GALNAC6_ENST00000373141.1_In_Frame_Del_p.H273del|ST6GALNAC6_ENST00000373144.3_In_Frame_Del_p.H273del|ST6GALNAC6_ENST00000485320.1_5'UTR|ST6GALNAC6_ENST00000542456.1_In_Frame_Del_p.H107del|RP11-203J24.9_ENST00000476274.2_RNA			Q969X2	SIA7F_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 6	307					protein glycosylation	integral to Golgi membrane|plasma membrane				endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GTGATGAAGCGGTGGTGGTTGCC	0.616													-	130648960	GGT	-	130648958	7	5	452	1	0	1	0	1	0	0	0	0	15324	1116	39	0	83	0	ST6GALNAC6	9	130648958	In_Frame_Del	DEL	GGT	TCGA-E1-A7YL-01A-11D-A34A-08		130648958	10564473	36	43559											
MLLT10	8028	broad.mit.edu	37	chr10	22022944	22022944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattaatggcattgtaggagCtttaaatggggttatgcaga	13	13	12	3	0	0	1	0	0	0	1	0	2	0	2	0	4	2	5	0	4	6	6			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:22022944C>T	ENST00000377072.3	+	21	3140	c.2792C>T	c.(2791-2793)gCt>gTt	p.A931V	MLLT10_ENST00000446906.2_Missense_Mutation_p.A915V|MLLT10_ENST00000377059.3_Missense_Mutation_p.A915V|MLLT10_ENST00000307729.7_Missense_Mutation_p.A915V	NM_004641.3	NP_004632.1	P55197	AF10_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 10	931					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						ATTGTAGGAGCTTTAAATGGG	0.498			T	"MLL, PICALM, CDK6"	AL								T	22022944	C	T	22022944	3	4	452	1	0	0	0	0	1	0	0	0	9701	797	28	2	2870	2	MLLT10	10	22022944	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		22022944	113511803	37	43560											
ERCC6	2074	broad.mit.edu	37	chr10	50669556	50669556	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagtacataatctgggctGgctccatccatgatggcatc	10	10	9	12	0	1	1	0	1	1	0	4	1	3	1	3	3	1	4	3	3	2	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:50669556G>A	ENST00000355832.5	-	19	3903	c.3825C>T	c.(3823-3825)gcC>gcT	p.A1275A	ERCC6_ENST00000465653.1_5'UTR|RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Silent_p.A645A	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1275					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AATCTGGGCTGGCTCCATCCA	0.512								Direct reversal of damage;Nucleotide excision repair (NER)					A	50669556	G	A	50669556	2	1	452	1	0	0	0	0	0	0	0	1	5258	1335	47	2		2	ERCC6	10	50669556	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	28646612	50669556	84865191	38	43561											
CYP2C8	1558	broad.mit.edu	37	chr10	96824643	96824643	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatctttataatcaaatcGtttctggaaaacaacggagc	14	12	7	8	2	3	1	1	1	2	0	4	3	3	3	0	2	3	1	0	2	6	4	rs72558195	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr10:96824643G>A	ENST00000371270.3	-	4	650	c.556C>T	c.(556-558)Cga>Tga	p.R186*	CYP2C8_ENST00000535898.1_Nonsense_Mutation_p.R84*|CYP2C8_ENST00000539050.1_Nonsense_Mutation_p.R100*	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	186					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	TAATCAAATCGTTTCTGGAAA	0.388													A	96824643	G	A	96824643	4	1	452	1	0	0	0	0	0	1	0	0	4200	1153	40	1	940	1	CYP2C8	10	96824643	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	46155087	96824643	38710104	39	43562											
CDHR5	53841	broad.mit.edu	37	chr11	618782	618782	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccgggtgtggctggttGgtgggaggtgctggttccca	3	10	18	10	1	0	0	0	0	0	0	1	1	1	1	3	7	1	4	3	7	0	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:618782G>A	ENST00000358353.3	-	14	2099	c.1777C>T	c.(1777-1779)Caa>Taa	p.Q593*	CDHR5_ENST00000349570.7_Intron|CDHR5_ENST00000397542.2_Nonsense_Mutation_p.Q593*			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	593	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GTGGCTGGTTGGTGGGAGGTG	0.662													A	618782	G	A	618782	4	1	452	1	0	0	0	0	0	1	0	0	3152	1357	47	2	772	2	CDHR5	11	618782	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		618782	134387734	40	43563											
OR5M8	219484	broad.mit.edu	37	chr11	56258392	56258392	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctccatcaggccagtgagcGctccatacacataaggcacc	11	7	8	15	1	2	1	1	1	1	0	4	1	3	1	4	2	2	2	4	2	2	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:56258392G>A	ENST00000327216.2	-	1	479	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A152V(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					GCCAGTGAGCGCTCCATACAC	0.512													A	56258392	G	A	56258392	3	1	452	1	0	0	0	0	1	0	0	0	11252	1087	38	1	484	1	OR5M8	11	56258392	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	55639610	56258392	78748124	41	43564											
SHANK2	22941	broad.mit.edu	37	chr11	70331643	70331643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctgggcactgcccggCgggggcgggggagcgggcgg	3	2	24	12	5	0	0	0	0	0	0	0	1	0	1	2	9	2	2	2	9	0	0	rs144792130	byFrequency	TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:70331643C>T	ENST00000338508.4	-	32	4757	c.4758G>A	c.(4756-4758)ccG>ccA	p.P1586P	SHANK2_ENST00000423696.2_Silent_p.P1206P|SHANK2_ENST00000409161.1_Silent_p.P989P|SHANK2_ENST00000449833.2_Silent_p.P990P			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1206					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			CACTgcccggcgggggcgggg	0.582													T	70331643	C	T	70331643	2	4	452	1	0	0	0	0	0	0	0	1	14359	755	27	1		1	SHANK2	11	70331643	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	14073251	70331643	64674873	42	43565											
GAB2	9846	broad.mit.edu	37	chr11	77961363	77961363	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaggacttgcgctctcGgagaaggtgctggctagagc	7	8	17	9	2	1	3	0	1	1	2	2	5	1	4	0	5	3	4	0	5	2	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:77961363G>A	ENST00000361507.4	-	3	545	c.460C>T	c.(460-462)Cga>Tga	p.R154*	GAB2_ENST00000526030.1_Intron|GAB2_ENST00000340149.2_Nonsense_Mutation_p.R116*	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	154					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			TTGCGCTCTCGGAGAAGGTGC	0.567													A	77961363	G	A	77961363	4	1	452	1	0	0	0	0	0	1	0	0	6201	1124	39	1	1602	1	GAB2	11	77961363	Nonsense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	7629720	77961363	57045153	43	43566											
APLP2	334	broad.mit.edu	37	chr11	129996638	129996638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgatgttgatgtgtatttCgagacctctgcagatgataa	12	14	10	5	1	1	5	0	3	1	2	2	6	1	5	1	0	1	3	1	0	3	4			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr11:129996638C>T	ENST00000263574.5	+	8	1206	c.1134C>T	c.(1132-1134)ttC>ttT	p.F378F	APLP2_ENST00000338167.5_Silent_p.F378F|APLP2_ENST00000539648.1_Silent_p.F166F|APLP2_ENST00000345598.5_Silent_p.F149F|APLP2_ENST00000278756.7_Silent_p.F388F|APLP2_ENST00000528499.1_Silent_p.F322F|APLP2_ENST00000543137.1_Silent_p.F285F	NM_001642.2	NP_001633.1	Q06481	APLP2_HUMAN	amyloid beta (A4) precursor-like protein 2	378					G-protein coupled receptor protein signaling pathway	integral to membrane|nucleus|plasma membrane	DNA binding|identical protein binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_hematologic(175;0.0429)	Breast(109;0.00586)|Lung NSC(97;0.00785)|all_lung(97;0.0154)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0197)|Lung(977;0.24)		ATGTGTATTTCGAGACCTCTG	0.483													T	129996638	C	T	129996638	2	4	452	1	0	0	0	0	0	0	0	1	782	883	31	1		1	APLP2	11	129996638	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	52035275	129996638	5009878	44	43567											
MYF6	4618	broad.mit.edu	37	chr12	81101560	81101560	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttggatggggaaaatgttaCtctgcagccattagaagtgg	11	11	13	6	0	1	1	0	0	1	1	1	3	1	3	1	4	3	2	1	4	5	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:81101560C>A	ENST00000228641.3	+	1	284	c.62C>A	c.(61-63)aCt>aAt	p.T21N		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	21					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						GAAAATGTTACTCTGCAGCCA	0.522													A	81101560	C	A	81101560	3	1	452	1	0	0	0	0	1	0	0	0	10104	565	20	4	64	4	MYF6	12	81101560	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		81101560	52750335	45	43568											
TMEM132B	114795	broad.mit.edu	37	chr12	125900178	125900178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatggcagcactcagacgtCggccaccctcacctgcatgg	9	7	10	15	2	2	1	2	0	0	1	3	1	2	1	3	3	2	3	3	3	1	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr12:125900178C>T	ENST00000299308.3	+	3	1054	c.1046C>T	c.(1045-1047)tCg>tTg	p.S349L		NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	349						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		ACTCAGACGTCGGCCACCCTC	0.602													T	125900178	C	T	125900178	3	4	452	1	0	0	0	0	1	0	0	0	16146	893	31	1	1056	1	TMEM132B	12	125900178	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	44798618	125900178	7951717	46	43569											
SPRY2	10253	broad.mit.edu	37	chr13	80910949	80910952	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															gggaactttgcagcaaactgTgtttgagtttttacagcggc																										TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr13:80910949_80910952delTGTT	ENST00000377102.1	-	2	1866_1869	c.889_892delAACA	c.(889-894)aacacafs	p.NT297fs	SPRY2_ENST00000540649.1_Frame_Shift_Del_p.NT297fs|SPRY2_ENST00000377104.3_Frame_Shift_Del_p.NT297fs			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	297	Cys-rich.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CAGCAAACTGTGTTTGAGTTTTTA	0.436													-	80910952	TGTT	-	80910949	7	5	452	1	0	1	0	1	0	0	0	0	15202	1696	59	0	59	0	SPRY2	13	80910949	Frame_Shift_Del	DEL	TGTT	TCGA-E1-A7YL-01A-11D-A34A-08		80910949	34258929	47	43570											
FMN1	342184	broad.mit.edu	37	chr15	33260987	33260987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggctcgatggctggttttCgaggacattgactggaagaa	9	11	15	6	2	0	2	0	1	0	1	2	6	0	4	0	5	0	3	0	5	2	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:33260987C>T	ENST00000334528.9	-	4	2245	c.2246G>A	c.(2245-2247)cGa>cAa	p.R749Q	FMN1_ENST00000561249.1_Missense_Mutation_p.R874Q|FMN1_ENST00000559047.1_Missense_Mutation_p.R972Q	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	972	Mediates interaction with alpha-catenin (By similarity).				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		GGCTGGTTTTCGAGGACATTG	0.537													T	33260987	C	T	33260987	3	4	452	1	0	0	0	0	1	0	0	0	5998	884	31	1	1400	1	FMN1	15	33260987	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		33260987	69270405	48	43571											
ACAN	176	broad.mit.edu	37	chr15	89398503	89398503	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcaagtggactgccctCtggagacctggactccagtg	8	7	14	12	0	1	1	0	0	1	1	2	4	2	3	3	4	1	1	3	4	1	0			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr15:89398503C>A	ENST00000439576.2	+	12	3061	c.2687C>A	c.(2686-2688)tCt>tAt	p.S896Y	ACAN_ENST00000561243.1_Missense_Mutation_p.S896Y|ACAN_ENST00000352105.7_Missense_Mutation_p.S896Y|ACAN_ENST00000559004.1_Missense_Mutation_p.S896Y	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	896					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GGACTGCCCTCTGGAGACCTG	0.577													A	89398503	C	A	89398503	3	1	452	1	0	0	0	0	1	0	0	0	117	913	32	4	2729	4	ACAN	15	89398503	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	56137516	89398503	13132889	49	43572											
ABCC11	85320	broad.mit.edu	37	chr16	48201459	48201459	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcagcacagtggtgacaCggtgggcaatgacgagcacg	11	6	15	9	3	1	2	1	2	0	0	1	3	1	2	0	3	2	4	0	3	1	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:48201459C>T	ENST00000394747.1	-	28	4353	c.4004G>A	c.(4003-4005)cGt>cAt	p.R1335H	ABCC11_ENST00000394748.1_Missense_Mutation_p.R1335H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1335H|ABCC11_ENST00000353782.5_Missense_Mutation_p.R1297H|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1335	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGTGGTGACACGGTGGGCAAT	0.592													T	48201459	C	T	48201459	3	4	452	1	0	0	0	0	1	0	0	0	51	536	19	1	152	1	ABCC11	16	48201459	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		48201459	42153294	50	43573											
C16orf80	29105	broad.mit.edu	37	chr16	58149206	58149206	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctcgatgtaattggtgccGtatgctcgccgtgtgaagtc	6	13	13	9	4	1	1	0	1	1	0	4	2	1	1	2	1	2	3	2	1	3	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:58149206G>A	ENST00000262498.3	-	4	766	c.432C>T	c.(430-432)taC>taT	p.Y144Y	C16orf80_ENST00000562443.1_5'UTR	NM_013242.2	NP_037374.1	Q9Y6A4	CP080_HUMAN	chromosome 16 open reading frame 80	144					multicellular organismal development					kidney(1)|large_intestine(1)|lung(1)|prostate(1)	4						AATTGGTGCCGTATGCTCGCC	0.552													A	58149206	G	A	58149206	2	1	452	1	0	0	0	0	0	0	0	1	1851	1140	40	1		1	C16orf80	16	58149206	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	9947747	58149206	32205547	51	43574											
CDYL2	124359	broad.mit.edu	37	chr16	80718705	80718705	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcctgaataccctttttttgGcttggccaggggagggttaa	7	13	13	8	0	0	1	0	1	0	0	0	2	0	2	3	5	1	2	3	5	3	6			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr16:80718705G>T	ENST00000570137.2	-	2	501	c.346C>A	c.(346-348)Cca>Aca	p.P116T	CDYL2_ENST00000566173.1_Missense_Mutation_p.P116T|CDYL2_ENST00000562753.1_5'UTR|CDYL2_ENST00000562812.1_Missense_Mutation_p.P116T|CDYL2_ENST00000563890.1_Missense_Mutation_p.P116T	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						CCTTTTTTTGGCTTGGCCAGG	0.542													T	80718705	G	T	80718705	3	4	452	1	0	0	0	0	1	0	0	0	3216	1203	42	4	1198	4	CDYL2	16	80718705	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	22569499	80718705	9636048	52	43575											
TP53	7157	broad.mit.edu	37	chr17	7578236	7578236	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgtttctgtcatccaaatActccacacgcaaatttcctt	11	14	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	3	4			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578236A>G	ENST00000420246.2	-	6	745	c.613T>C	c.(613-615)Tat>Cat	p.Y205H	TP53_ENST00000359597.4_Missense_Mutation_p.Y205H|TP53_ENST00000269305.4_Missense_Mutation_p.Y205H|TP53_ENST00000455263.2_Missense_Mutation_p.Y205H|TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y205H|TP53_ENST00000413465.2_Missense_Mutation_p.Y205H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205D(13)|p.0?(8)|p.Y205N(8)|p.?(5)|p.Y205H(5)|p.Y112N(2)|p.Y73N(2)|p.Y205fs*43(1)|p.Y205fs*42(1)|p.E204fs*39(1)|p.G199fs*42(1)|p.E204_N210delEYLDDRN(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)		TCATCCAAATACTCCACACGC	0.542		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)			G	7578236	A	G	7578236	3	3	452	1	0	0	0	0	1	0	0	0	16482	391	14	3	681	3	TP53	17	7578236	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08		7578236	73616974	53	43576			2	60		3	3	299	N	C_A	2.326759e-07
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578406C>A	ENST00000420246.2	-	5	656	c.524G>T	c.(523-525)cGc>cTc	p.R175L	TP53_ENST00000359597.4_Missense_Mutation_p.R175L|TP53_ENST00000269305.4_Missense_Mutation_p.R175L|TP53_ENST00000455263.2_Missense_Mutation_p.R175L|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R175L|TP53_ENST00000413465.2_Missense_Mutation_p.R175L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			A	7578406	C	A	7578406	3	1	452	1	0	0	0	0	1	0	0	0	16482	768	27	4	774	4	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	170	7578406	73616804	54	43577			2	60		3	3	299	N	C_A	2.326759e-07
TP53	7157	broad.mit.edu	37	chr17	7578534	7578534	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggccagttggcaaaacatCttgttgagggcaggggagta	10	10	15	6	0	1	1	0	1	1	0	1	2	1	2	1	5	1	5	1	5	3	5			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:7578534C>G	ENST00000420246.2	-	5	528	c.396G>C	c.(394-396)aaG>aaC	p.K132N	TP53_ENST00000359597.4_Missense_Mutation_p.K132N|TP53_ENST00000269305.4_Missense_Mutation_p.K132N|TP53_ENST00000455263.2_Missense_Mutation_p.K132N|TP53_ENST00000445888.2_Missense_Mutation_p.K132N|TP53_ENST00000413465.2_Missense_Mutation_p.K132N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132N(49)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.K39N(2)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132K(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.M133fs*37(1)|p.M133fs*16(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)		GGCAAAACATCTTGTTGAGGG	0.562		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)			G	7578534	C	G	7578534	3	3	452	1	0	0	0	0	1	0	0	0	16482	912	32	4	902	4	TP53	17	7578534	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	128	7578534	73616676	55	43578			2	60		3	3	299	N	C_A	2.326759e-07
MYH8	4626	broad.mit.edu	37	chr17	10312737	10312737	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtagtccacagtgccagCatagtgaatcagagagaagt	13	9	12	7	0	1	3	1	1	0	2	2	4	2	3	2	0	2	3	2	0	4	3			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:10312737C>A	ENST00000403437.2	-	16	1850	c.1756G>T	c.(1756-1758)Gct>Tct	p.A586S	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	586	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ACAGTGCCAGCATAGTGAATC	0.512									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10312737	C	A	10312737	3	1	452	1	0	0	0	0	1	0	0	0	10117	710	25	4	4157	4	MYH8	17	10312737	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	2734203	10312737	70882473	56	43579											
CCDC144A	9720	broad.mit.edu	37	chr17	16593777	16593777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccgaagccggcagtctaCgccacgaggaagacccctag	10	5	11	15	4	2	1	0	0	2	1	3	4	2	2	5	2	2	1	5	2	4	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:16593777C>T	ENST00000443444.2	+	1	203	c.63C>T	c.(61-63)taC>taT	p.Y21Y	CCDC144A_ENST00000436374.1_3'UTR|CCDC144A_ENST00000456009.1_Silent_p.Y21Y|CCDC144A_ENST00000399273.1_Silent_p.Y21Y|RP11-219A15.1_ENST00000448331.3_Silent_p.Y21Y|CCDC144A_ENST00000340621.5_Silent_p.Y21Y|CCDC144A_ENST00000360524.8_Silent_p.Y21Y			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A	21																	CGGCAGTCTACGCCACGAGGA	0.667													T	16593777	C	T	16593777	2	4	452	1	0	0	0	0	0	0	0	1	2803	547	19	1		1	CCDC144A	17	16593777	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	6281040	16593777	64601433	57	43580											
RUNDC3A	10900	broad.mit.edu	37	chr17	42390486	42390486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcctgtgccccagcaGgtccagtgagctggttcagc	6	8	13	14	0	2	1	2	1	0	0	3	1	3	1	4	2	5	4	4	2	0	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:42390486G>A	ENST00000426726.3	+	3	512	c.238G>A	c.(238-240)Ggt>Agt	p.G80S	RUNDC3A_ENST00000225441.7_Missense_Mutation_p.G80S|AC003102.3_ENST00000588097.1_RNA|RUNDC3A_ENST00000590941.1_Splice_Site	NM_001144825.1	NP_001138297.1	Q59EK9	RUN3A_HUMAN	RUN domain containing 3A	80	Interaction with RAP2A (By similarity).|RUN.				small GTPase mediated signal transduction		small GTPase regulator activity			large_intestine(1)|lung(1)|ovary(2)	4		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGCCCCAGCAGGTCCAGTGAG	0.592													A	42390486	G	A	42390486	3	1	452	1	0	0	0	0	1	0	0	0	13835	1014	35	2	248	2	RUNDC3A	17	42390486	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	25796709	42390486	38804724	58	43581											
TBX21	30009	broad.mit.edu	37	chr17	45821893	45821893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctttgccaaaggattcCgggagaactttgagtcgtaa	11	10	10	10	2	0	2	0	1	0	1	2	4	1	3	4	2	2	1	4	2	3	4			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:45821893C>T	ENST00000177694.1	+	5	1184	c.973C>T	c.(973-975)Cgg>Tgg	p.R325W		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	325					lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAAAGGATTCCGGGAGAACTT	0.512													T	45821893	C	T	45821893	3	4	452	1	0	0	0	0	1	0	0	0	15757	643	23	1	991	1	TBX21	17	45821893	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	3431407	45821893	35373317	59	43582											
SPOP	8405	broad.mit.edu	37	chr17	47696430	47696430	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggatgaatttcttgaatccCcagtctttgccttgcacaaa	10	13	7	11	1	2	2	0	2	2	0	3	3	3	3	3	1	2	1	3	1	3	4			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:47696430C>G	ENST00000393331.3	-	7	863	c.393G>C	c.(391-393)tgG>tgC	p.W131C	SPOP_ENST00000503676.1_Missense_Mutation_p.W131C|SPOP_ENST00000504102.1_Missense_Mutation_p.W131C|SPOP_ENST00000347630.2_Missense_Mutation_p.W131C|SPOP_ENST00000393328.2_Missense_Mutation_p.W131C	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	131	MATH.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCTTGAATCCCCAGTCTTTGC	0.453										Prostate(2;0.17)			G	47696430	C	G	47696430	3	3	452	1	0	0	0	0	1	0	0	0	15180	624	22	4	755	4	SPOP	17	47696430	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	1874537	47696430	33498780	60	43583											
ACE	1636	broad.mit.edu	37	chr17	61566030	61566030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacgaatgtgatggccaCgtcccggaaatatgaagacc	12	8	11	10	3	1	4	0	3	1	1	2	6	2	5	3	2	0	0	3	2	4	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr17:61566030C>T	ENST00000577647.1	+	5	650	c.605C>T	c.(604-606)aCg>aTg	p.T202M	ACE_ENST00000490216.2_Missense_Mutation_p.T202M|ACE_ENST00000290863.6_Missense_Mutation_p.T202M|ACE_ENST00000290866.4_Missense_Mutation_p.T776M|ACE_ENST00000428043.1_Missense_Mutation_p.T776M|ACE_ENST00000421982.2_Missense_Mutation_p.T86M|ACE_ENST00000413513.3_Missense_Mutation_p.T202M			P12821	ACE_HUMAN	angiotensin I converting enzyme	776	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	GTGATGGCCACGTCCCGGAAA	0.537													T	61566030	C	T	61566030	3	4	452	1	0	0	0	0	1	0	0	0	136	536	19	1	2592	1	ACE	17	61566030	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	13869600	61566030	19629180	61	43584											
ACTL9	284382	broad.mit.edu	37	chr19	8808926	8808926	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctttggtggcagcctgtcGgccaccatgccggggaagtc	5	9	15	12	2	1	0	0	0	1	0	3	1	1	1	4	5	2	1	4	5	1	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:8808926G>A	ENST00000324436.3	-	1	246	c.126C>T	c.(124-126)gcC>gcT	p.A42A		NM_178525.3	NP_848620.3	Q8TC94	ACTL9_HUMAN	actin-like 9	42			A -> D (in a colorectal cancer sample; somatic mutation).			cytoplasm|cytoskeleton				NS(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(15)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	36						GCAGCCTGTCGGCCACCATGC	0.657													A	8808926	G	A	8808926	2	1	452	1	0	0	0	0	0	0	0	1	203	1103	39	1		1	ACTL9	19	8808926	Silent	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		8808926	50320057	62	43585											
ZNF526	116115	broad.mit.edu	37	chr19	42730132	42730132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacccatacgggtgcacGtccctaccaatgcctggact	8	8	10	15	2	0	1	0	1	0	0	1	2	1	2	4	2	4	2	4	2	3	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:42730132G>A	ENST00000301215.3	+	3	1802	c.1577G>A	c.(1576-1578)cGt>cAt	p.R526H		NM_133444.1	NP_597701.1	Q8TF50	ZN526_HUMAN	zinc finger protein 526	526					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(3)	22		Prostate(69;0.0704)				ACGGGTGCACGTCCCTACCAA	0.627													A	42730132	G	A	42730132	3	1	452	1	0	0	0	0	1	0	0	0	18068	1145	40	1	1579	1	ZNF526	19	42730132	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	33921206	42730132	16398851	63	43586											
LENG9	94059	broad.mit.edu	37	chr19	54974077	54974077	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctctcctgggccgcctcCagctctccgggttcctccac	2	9	9	21	2	2	0	0	0	2	0	7	0	5	0	8	2	1	2	8	2	0	1			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:54974077C>A	ENST00000333834.4	-	1	817	c.699G>T	c.(697-699)ctG>ctT	p.L233L		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	233					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		GGGCCGCCTCCAGCTCTCCGG	0.682													A	54974077	C	A	54974077	2	1	452	1	0	0	0	0	0	0	0	1	8784	581	21	4		4	LENG9	19	54974077	Silent	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	12243945	54974077	4154906	64	43587											
NLRP4	147945	broad.mit.edu	37	chr19	56369885	56369885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtgtactcctctttcGtctttaacctgttcacacct	5	17	4	15	1	4	0	1	0	3	0	6	0	5	0	4	0	2	2	4	0	2	5	rs149428225		TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:56369885G>A	ENST00000301295.6	+	3	1548	c.1126G>A	c.(1126-1128)Gtc>Atc	p.V376I	NLRP4_ENST00000346986.5_Missense_Mutation_p.V376I|NLRP4_ENST00000587891.1_Missense_Mutation_p.V301I	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	376	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		CTCCTCTTTCGTCTTTAACCT	0.577													A	56369885	G	A	56369885	3	1	452	1	0	0	0	0	1	0	0	0	10555	1145	40	1	1132	1	NLRP4	19	56369885	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	1395808	56369885	2759098	65	43588											
ZSCAN18	65982	broad.mit.edu	37	chr19	58597628	58597628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcgtcaggctgggaaagctGataccctgagtggggttaaa	11	8	15	7	1	1	2	1	2	0	0	1	3	1	3	1	4	3	3	1	4	4	2			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr19:58597628G>C	ENST00000240727.6	-	6	1150	c.751C>G	c.(751-753)Cag>Gag	p.Q251E	ZSCAN18_ENST00000600404.1_Missense_Mutation_p.Q307E|ZSCAN18_ENST00000601144.1_Missense_Mutation_p.Q251E|ZSCAN18_ENST00000421612.2_Missense_Mutation_p.Q116E	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	251					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		TGGGAAAGCTGATACCCTGAG	0.562													C	58597628	G	C	58597628	3	2	452	1	0	0	0	0	1	0	0	0	18328	1299	45	4	789	4	ZSCAN18	19	58597628	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08	2227743	58597628	531355	66	43589											
KIF16B	55614	broad.mit.edu	37	chr20	16485072	16485072	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttcagctcgcagctcaCggataagtttgacgttggca	9	12	10	10	3	2	1	2	1	0	0	3	2	2	2	0	2	2	6	0	2	2	5			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:16485072C>T	ENST00000378003.2	-	0	1278				KIF16B_ENST00000355755.3_Missense_Mutation_p.R374H|KIF16B_ENST00000408042.1_Missense_Mutation_p.R374H|KIF16B_ENST00000354981.2_Missense_Mutation_p.R374H			Q96L93	KI16B_HUMAN	kinesin family member 16B						cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCGCAGCTCACGGATAAGTTT	0.408													T	16485072	C	T	16485072	1	4	452	1	0	0	0	0	0	0	0	0	8336	536	19	1		1	KIF16B	20	16485072	Translation_Start_Site	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08		16485072	46540448	67	43590											
MMP24	10893	broad.mit.edu	37	chr20	33855200	33855200	+	Frame_Shift_Del	DEL	G	G	-																															caacacagtggccctcttccGgggcgagatgtttgtcttta																										TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:33855200delG	ENST00000246186.6	+	6	1257	c.1172delG	c.(1171-1173)cggfs	p.R391fs	MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000566203.2_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000438751.1_RNA|MMP24-AS1_ENST00000453892.1_RNA|EDEM2_ENST00000540582.1_Intron	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	391	Hemopexin-like 1.				proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			GCCCTCTTCCGGGGCGAGATG	0.632													-	33855200	G	-	33855200	7	5	452	1	0	1	0	1	0	0	0	0	9737	1116	39	0	944	0	MMP24	20	33855200	Frame_Shift_Del	DEL	G	TCGA-E1-A7YL-01A-11D-A34A-08	17370128	33855200	29170320	68	43591											
MC3R	4159	broad.mit.edu	37	chr20	54824345	54824345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacgtcaccatcttttacgCgctccgctaccacagcatca	9	10	6	16	4	3	0	2	0	1	0	4	0	4	0	3	0	4	4	3	0	3	4			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr20:54824345C>T	ENST00000243911.2	+	1	558	c.446C>T	c.(445-447)gCg>gTg	p.A149V		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	186					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			ATCTTTTACGCGCTCCGCTAC	0.582													T	54824345	C	T	54824345	3	4	452	1	0	0	0	0	1	0	0	0	9440	768	27	1	448	1	MC3R	20	54824345	Missense_Mutation	SNP	C	TCGA-E1-A7YL-01A-11D-A34A-08	20969145	54824345	8201175	69	43592											
ITSN1	6453	broad.mit.edu	37	chr21	35144467	35144467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgcaaggagcaggagcGcctggcccagctggagcggg	8	2	19	12	3	0	0	0	0	0	0	0	3	0	3	2	5	5	4	2	5	1	0			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:35144467G>A	ENST00000381318.3	+	12	1433	c.1145G>A	c.(1144-1146)cGc>cAc	p.R382H	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Missense_Mutation_p.R382H|ITSN1_ENST00000399355.2_Missense_Mutation_p.R382H|ITSN1_ENST00000381285.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399326.3_Missense_Mutation_p.R382H|ITSN1_ENST00000379960.5_Missense_Mutation_p.R382H|ITSN1_ENST00000381291.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399353.1_Missense_Mutation_p.R345H|ITSN1_ENST00000488166.1_3'UTR|ITSN1_ENST00000399349.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399338.4_Missense_Mutation_p.R382H|ITSN1_ENST00000399352.1_Missense_Mutation_p.R382H|ITSN1_ENST00000399367.3_Missense_Mutation_p.R382H	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	382	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity	p.R382H(1)		breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAGCAGGAGCGCCTGGCCCAG	0.572													A	35144467	G	A	35144467	3	1	452	1	0	0	0	0	1	0	0	0	7984	1087	38	1	1187	1	ITSN1	21	35144467	Missense_Mutation	SNP	G	TCGA-E1-A7YL-01A-11D-A34A-08		35144467	12985428	70	43593											
MCM3AP	8888	broad.mit.edu	37	chr21	47660915	47660915	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attgtttgcagaaggatgaaAaggctttattgccaaactgt	13	13	10	5	0	0	2	0	1	0	1	0	3	0	3	1	2	3	3	1	2	5	5			TCGA-E1-A7YL-01A-11D-A34A-08	TCGA-E1-A7YL-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1ad8718d-c98f-4d1f-aa96-960a3dc7b354	19546259-b634-494f-a257-deada2e12d89	g.chr21:47660915A>G	ENST00000397708.1	-	27	5697	c.5443T>C	c.(5443-5445)Ttt>Ctt	p.F1815L	MCM3AP-AS1_ENST00000591223.1_RNA|MCM3AP_ENST00000291688.1_Missense_Mutation_p.F1815L|MCM3AP-AS1_ENST00000414659.1_RNA|MCM3AP_ENST00000467026.1_5'UTR|MCM3AP-AS1_ENST00000421927.1_RNA|MCM3AP-AS1_ENST00000590829.1_RNA|MCM3AP-AS1_ENST00000444998.1_RNA|MCM3AP-AS1_ENST00000455567.1_RNA|MCM3AP-AS1_ENST00000588753.1_RNA|MCM3AP-AS1_ENST00000432735.1_RNA			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	1815					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					GAAGGATGAAAAGGCTTTATT	0.403													G	47660915	A	G	47660915	3	3	452	1	0	0	0	0	1	0	0	0	9463	14	1	3	511	3	MCM3AP	21	47660915	Missense_Mutation	SNP	A	TCGA-E1-A7YL-01A-11D-A34A-08	12516448	47660915	468980	71	43594											
SERINC2	347735	broad.mit.edu	37	chr1	31897680	31897680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctgctcatgctctgcGtgagcagcagccgggacccc	6	7	11	17	2	3	1	2	1	1	0	3	2	3	2	4	1	6	4	4	1	0	0			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:31897680G>A	ENST00000373710.1	+	4	652	c.379G>A	c.(379-381)Gtg>Atg	p.V127M	SERINC2_ENST00000373709.3_Missense_Mutation_p.V118M|SERINC2_ENST00000536859.1_Missense_Mutation_p.V122M|SERINC2_ENST00000536384.1_Missense_Mutation_p.V122M|SERINC2_ENST00000491976.1_3'UTR	NM_001199038.1	NP_001185967.1	Q96SA4	SERC2_HUMAN	serine incorporator 2	118						integral to membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		CATGCTCTGCGTGAGCAGCAG	0.652													A	31897680	G	A	31897680	3	1	453	1	0	0	0	0	1	0	0	0	14173	1145	40	1	362	1	SERINC2	1	31897680	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		31897680	217352941	1	43595											
HRNR	388697	broad.mit.edu	37	chr1	152187663	152187663	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgagctagatccgtgtcGttcacccctagatgactgtc	8	11	9	13	2	1	4	1	2	0	2	4	4	2	4	4	0	1	2	4	0	2	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr1:152187663G>A	ENST00000368801.2	-	3	6517	c.6442C>T	c.(6442-6444)Cga>Tga	p.R2148*	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2148					keratinization		calcium ion binding|protein binding	p.R2148*(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GATCCGTGTCGTTCACCCCTA	0.587													A	152187663	G	A	152187663	4	1	453	1	0	0	0	0	0	1	0	0	7414	1153	40	1	2114	1	HRNR	1	152187663	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	120289983	152187663	97062958	2	43596											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698258	17698258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttaccatttagccaaacagtCgttattaaagctgtctgact	12	14	6	9	1	1	1	0	1	1	0	2	1	1	1	2	0	4	2	2	0	6	5			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:17698258C>T	ENST00000399080.2	-	1	1448	c.1425G>A	c.(1423-1425)acG>acA	p.T475T		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	475										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					GCCAAACAGTCGTTATTAAAG	0.343													T	17698258	C	T	17698258	2	4	453	1	0	0	0	0	0	0	0	1	13075	871	31	1		1	RAD51AP2	2	17698258	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		17698258	225501115	3	43597											
VIT	5212	broad.mit.edu	37	chr2	37041349	37041349	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcacctatgcgataggcGttgcctgggctgcccaagag	8	9	13	11	2	1	2	1	1	0	1	1	3	1	2	3	2	3	2	3	2	3	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:37041349G>A	ENST00000379242.3	+	16	2229	c.1927G>A	c.(1927-1929)Gtt>Att	p.V643I	VIT_ENST00000404084.1_Missense_Mutation_p.V580I|VIT_ENST00000389975.3_Missense_Mutation_p.V628I|VIT_ENST00000497382.1_Missense_Mutation_p.V297I|VIT_ENST00000379241.3_Missense_Mutation_p.V606I|VIT_ENST00000401530.1_Missense_Mutation_p.V607I	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	628	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TGCGATAGGCGTTGCCTGGGC	0.512													A	37041349	G	A	37041349	3	1	453	1	0	0	0	0	1	0	0	0	17273	1145	40	1	2110	1	VIT	2	37041349	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	19343091	37041349	206158024	4	43598											
BMP10	27302	broad.mit.edu	37	chr2	69093101	69093101	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttggcgttccttctgattcGggcagtggagtcatagatga	7	14	13	7	2	2	3	1	2	1	1	4	4	3	4	1	3	0	2	1	3	1	5			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:69093101G>A	ENST00000295379.1	-	2	1095	c.937C>T	c.(937-939)Cga>Tga	p.R313*		NM_014482.1	NP_055297.1	O95393	BMP10_HUMAN	bone morphogenetic protein 10	313					activin receptor signaling pathway|adult heart development|atrial cardiac muscle tissue morphogenesis|BMP signaling pathway|cardiac muscle cell proliferation|heart trabecula formation|negative regulation of cardiac muscle hypertrophy|negative regulation of cell growth|negative regulation of endothelial cell migration|Notch signaling pathway|pathway-restricted SMAD protein phosphorylation|positive regulation of cardiac muscle cell proliferation|positive regulation of cardiac muscle hypertrophy|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent|sarcomere organization|ventricular cardiac muscle cell development|ventricular cardiac muscle tissue morphogenesis	cell surface|extracellular space|Z disc	cytokine activity|growth factor activity|receptor serine/threonine kinase binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(15)|ovary(2)	27						CTTCTGATTCGGGCAGTGGAG	0.527													A	69093101	G	A	69093101	4	1	453	1	0	0	0	0	0	1	0	0	1463	1124	39	1	341	1	BMP10	2	69093101	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	32051752	69093101	174106272	5	43599											
FBXO41	150726	broad.mit.edu	37	chr2	73490392	73490392	+	Frame_Shift_Del	DEL	C	C	-																															cgatctctctgcagcctgcgCccagggcccaaatgacctca																										TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:73490392delC	ENST00000521871.1	-	9	2535	c.2120delG	c.(2119-2121)ggcfs	p.G707fs	FBXO41_ENST00000520530.2_Frame_Shift_Del_p.G707fs|FBXO41_ENST00000295133.5_Frame_Shift_Del_p.G768fs			Q8TF61	FBX41_HUMAN	F-box protein 41	707						intracellular	protein binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						GCAGCCTGCGCCCAGGGCCCA	0.612													-	73490392	C	-	73490392	7	5	453	1	0	1	0	1	0	0	0	0	5799	739	26	0	527	0	FBXO41	2	73490392	Frame_Shift_Del	DEL	C	TCGA-E1-A7YM-01A-11D-A34A-08	4397291	73490392	169708981	6	43600											
IL1RL1	9173	broad.mit.edu	37	chr2	102965586	102965586	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacccacggaactacaaaTccagtacagatggggccagt	13	7	9	12	1	1	1	0	0	1	1	2	2	2	2	3	3	4	1	3	3	5	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:102965586T>C	ENST00000233954.1	+	10	1436	c.1165T>C	c.(1165-1167)Tcc>Ccc	p.S389P		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	389	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						GAACTACAAATCCAGTACAGA	0.388													C	102965586	T	C	102965586	3	2	453	1	0	0	0	0	1	0	0	0	7721	1435	50	3	1216	3	IL1RL1	2	102965586	Missense_Mutation	SNP	T	TCGA-E1-A7YM-01A-11D-A34A-08	29475194	102965586	140233787	7	43601											
NDUFS1	4719	broad.mit.edu	37	chr2	207009618	207009618	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatatagcatatacctGgttttatcagagatccactc	15	12	5	9	0	1	1	1	0	0	1	3	2	2	1	2	1	3	2	2	1	7	6			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:207009618G>T	ENST00000233190.6	-	9	1136	c.870C>A	c.(868-870)acC>acA	p.T290T	NDUFS1_ENST00000449699.1_Silent_p.T290T|NDUFS1_ENST00000432169.1_Silent_p.T179T|NDUFS1_ENST00000455934.2_Silent_p.T304T|NDUFS1_ENST00000457011.1_Silent_p.T174T|NDUFS1_ENST00000423725.1_Silent_p.T233T|NDUFS1_ENST00000440274.1_Silent_p.T254T	NM_005006.6	NP_004997.4	P28331	NDUS1_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)						apoptosis|ATP metabolic process|mitochondrial electron transport, NADH to ubiquinone|reactive oxygen species metabolic process|regulation of mitochondrial membrane potential|transport	mitochondrial intermembrane space|mitochondrial respiratory chain complex I	2 iron, 2 sulfur cluster binding|4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NADH dehydrogenase (ubiquinone) activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(15)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					NADH(DB00157)	GCATATACCTGGTTTTATCAG	0.299													T	207009618	G	T	207009618	2	4	453	1	0	0	0	0	0	0	0	1	10367	1335	47	4		4	NDUFS1	2	207009618	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	104044032	207009618	36189755	8	43602											
ALPP	250	broad.mit.edu	37	chr2	233245422	233245422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgacagaggctgccctgCgcctgctgagcaggaacccc	9	5	13	14	1	0	4	0	2	0	2	0	5	0	5	4	2	5	3	4	2	1	0			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233245422C>T	ENST00000392027.2	+	8	1224	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	319						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCTGCCCTGCGCCTGCTGAG	0.632													T	233245422	C	T	233245422	3	4	453	1	0	0	0	0	1	0	0	0	548	768	27	1	985	1	ALPP	2	233245422	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	26235804	233245422	9953951	9	43603											
NGEF	25791	broad.mit.edu	37	chr2	233750036	233750036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgctgatcatctgttccGtgcggctcattttcctgacg	6	14	10	11	3	3	2	2	2	1	0	5	3	5	2	2	1	2	3	2	1	1	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:233750036G>A	ENST00000264051.3	-	10	1669	c.1391C>T	c.(1390-1392)aCg>aTg	p.T464M	NGEF_ENST00000373552.4_Missense_Mutation_p.T372M|NGEF_ENST00000539537.1_Missense_Mutation_p.T187M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	464					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCTGTTCCGTGCGGCTCAT	0.597													A	233750036	G	A	233750036	3	1	453	1	0	0	0	0	1	0	0	0	10470	1145	40	1	765	1	NGEF	2	233750036	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	504614	233750036	9449337	10	43604											
UGT1A5	54579	broad.mit.edu	37	chr2	234621899	234621899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatttcatggacccaggacGaatttgatcgccttttgctg	8	13	9	11	2	1	1	1	1	0	0	2	4	1	3	3	2	1	1	3	2	1	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr2:234621899G>A	ENST00000373414.3	+	1	262	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	UGT1A1_ENST00000373450.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000608381.1_Missense_Mutation_p.E88K|UGT1A7_ENST00000373426.3_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A10_ENST00000373445.1_Intron																cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;4.51e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000523)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.00645)		GACCCAGGACGAATTTGATCG	0.428													A	234621899	G	A	234621899	3	1	453	1	0	0	0	0	1	0	0	0	17050	1059	37	1	264	1	UGT1A5	2	234621899	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	871863	234621899	8577474	11	43605											
RBMS3	27303	broad.mit.edu	37	chr3	30029663	30029663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgctgctcctatgcaaggGacctacattcctcagtacac	9	10	8	14	0	1	0	1	0	0	0	3	1	3	1	3	1	5	5	3	1	4	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:30029663G>A	ENST00000434693.2	+	13	1825	c.1125G>A	c.(1123-1125)ggG>ggA	p.G375G	RBMS3_ENST00000456853.1_Silent_p.G373G|RBMS3_ENST00000452462.1_Silent_p.G360G|RBMS3_ENST00000383766.2_Silent_p.G358G|RBMS3_ENST00000473799.1_3'UTR|RBMS3_ENST00000273139.9_Silent_p.G360G|RBMS3_ENST00000383767.2_Silent_p.G376G|RBMS3_ENST00000396583.3_Silent_p.G373G	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	376						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CTATGCAAGGGACCTACATTC	0.403													A	30029663	G	A	30029663	2	1	453	1	0	0	0	0	0	0	0	1	13238	1161	41	2		2	RBMS3	3	30029663	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		30029663	167992767	12	43606											
SETD2	29072	broad.mit.edu	37	chr3	47144880	47144880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagctgtgattcatgaaacGagagcaatttcctttttgag	12	13	9	7	1	1	4	1	3	0	1	2	5	2	4	1	0	3	2	1	0	2	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:47144880G>A	ENST00000409792.3	-	7	4915	c.4873C>T	c.(4873-4875)Cgt>Tgt	p.R1625C		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1625	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding	p.R1122C(1)|p.R1625C(1)		breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCATGAAACGAGAGCAATTT	0.348			"N, F, S, Mis"		clear cell renal carcinoma								A	47144880	G	A	47144880	3	1	453	1	0	0	0	0	1	0	0	0	14224	1058	37	1	2881	1	SETD2	3	47144880	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	17115217	47144880	150877550	13	43607											
CACNA1D	776	broad.mit.edu	37	chr3	53783386	53783386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttcttcatcatctacAtcatcattgtagctttcttc	8	18	2	13	0	8	0	4	0	4	0	9	0	8	0	1	0	2	2	1	0	2	7			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:53783386A>G	ENST00000288139.4	+	28	3584	c.3466A>G	c.(3466-3468)Atc>Gtc	p.I1156V	CACNA1D_ENST00000422281.2_Missense_Mutation_p.I1136V|CACNA1D_ENST00000350061.5_Missense_Mutation_p.I1136V|CACNA1D_ENST00000540742.1_Missense_Mutation_p.I43V	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit		Dihydropyridine binding (By similarity).				axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	CATCATCTACATCATCATTGT	0.428													G	53783386	A	G	53783386	3	3	453	1	0	0	0	0	1	0	0	0	2567	217	8	3	3684	3	CACNA1D	3	53783386	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08	6638506	53783386	144239044	14	43608											
TNK2	10188	broad.mit.edu	37	chr3	195595228	195595229	+	Frame_Shift_Ins	INS	-	-	G																															ccacgtcgtcataggcgggcINSggggggggcagcgggcgtgc																										TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr3:195595228_195595229insG	ENST00000333602.6	-	12	2512_2513	c.1895_1896insC	c.(1894-1896)ccgfs	p.P632fs	TNK2_ENST00000428187.1_Frame_Shift_Ins_p.P664fs|TNK2_ENST00000392400.1_Frame_Shift_Ins_p.P632fs|TNK2_ENST00000381916.2_Frame_Shift_Ins_p.P710fs	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	632	Pro-rich.|Required for interaction with NEDD4 (By similarity).|Required for interaction with SRC.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	CATAGGCGGGCGGGGGGGGCAG	0.728													G	195595229	-	G	195595228	7	5	453	1	0	1	1	0	0	0	0	0	16418	755	27	0	1236	0	TNK2	3	195595228	Frame_Shift_Ins	INS	-	TCGA-E1-A7YM-01A-11D-A34A-08	141811842	195595228	2427202	15	43609											
ADAMTS3	9508	broad.mit.edu	37	chr4	73148881	73148881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaaggtggatgatcttgtcGgacgtctgttgtcaatgatc	8	14	12	7	2	3	2	1	2	2	0	5	4	3	4	0	3	0	1	0	3	2	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr4:73148881G>A	ENST00000286657.4	-	22	3626	c.3590C>T	c.(3589-3591)cCg>cTg	p.P1197L		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	1197					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGATCTTGTCGGACGTCTGTT	0.448													A	73148881	G	A	73148881	3	1	453	1	0	0	0	0	1	0	0	0	267	1116	39	1	31	1	ADAMTS3	4	73148881	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		73148881	118005395	16	43610											
DMXL1	1657	broad.mit.edu	37	chr5	118484571	118484571	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacgtcaaagaatggaaaaAttgatcttgcatacatttgg	15	11	8	7	1	2	2	1	1	1	1	2	3	2	3	1	2	2	1	1	2	5	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:118484571A>G	ENST00000311085.8	+	18	3129	c.3049A>G	c.(3049-3051)Att>Gtt	p.I1017V	DMXL1_ENST00000539542.1_Missense_Mutation_p.I1017V	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1017										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAATGGAAAAATTGATCTTGC	0.388													G	118484571	A	G	118484571	3	3	453	1	0	0	0	0	1	0	0	0	4633	101	4	3	3119	3	DMXL1	5	118484571	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08		118484571	62430689	17	43611											
PCDHA7	56141	broad.mit.edu	37	chr5	140215668	140215668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcgccggcactgctggCgcctcgggtgggtggcactg	4	6	17	14	5	0	0	0	0	0	0	1	0	0	0	2	5	2	3	2	5	1	0			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140215668C>T	ENST00000525929.1	+	1	1700	c.1700C>T	c.(1699-1701)gCg>gTg	p.A567V	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A567V|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTGCTGGCGCCTCGGGTG	0.692													T	140215668	C	T	140215668	3	4	453	1	0	0	0	0	1	0	0	0	11605	768	27	1	1702	1	PCDHA7	5	140215668	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	21731097	140215668	40699592	18	43612											
PCDHA10	56139	broad.mit.edu	37	chr5	140237073	140237073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacggtgtctgcgtgggaCgcggacgcgcaggagaacgc	7	6	17	11	7	2	1	1	0	1	1	2	4	2	3	0	4	2	1	0	4	1	1			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:140237073C>T	ENST00000307360.5	+	1	1440	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Silent_p.D480D|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018901.2	NP_061724.1												p.D480D(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCGTGGGACGCGGACGCGC	0.657													T	140237073	C	T	140237073	2	4	453	1	0	0	0	0	0	0	0	1	11596	535	19	1		1	PCDHA10	5	140237073	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	21405	140237073	40678187	19	43613											
DOCK2	1794	broad.mit.edu	37	chr5	169484642	169484642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagctgccggggatcctgcGctggtttgaggtggtgcaca	6	9	16	10	2	0	1	0	1	0	0	1	2	1	2	2	5	4	4	2	5	1	1			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr5:169484642G>A	ENST00000256935.8	+	44	4519	c.4439G>A	c.(4438-4440)cGc>cAc	p.R1480H	DOCK2_ENST00000520908.1_Missense_Mutation_p.R972H|DOCK2_ENST00000523351.1_3'UTR|DOCK2_ENST00000540750.1_Missense_Mutation_p.R541H	NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	1480	DHR-2.				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGGATCCTGCGCTGGTTTGAG	0.607													A	169484642	G	A	169484642	3	1	453	1	0	0	0	0	1	0	0	0	4726	1087	38	1	4613	1	DOCK2	5	169484642	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	29247569	169484642	11430618	20	43614											
JARID2	3720	broad.mit.edu	37	chr6	15501350	15501350	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaggagcaccggcggctgGagaaggaggtgctgatggag	10	4	20	7	2	0	3	0	1	0	2	0	7	0	6	1	7	2	3	1	7	1	0			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:15501350G>T	ENST00000341776.2	+	8	2402	c.2158G>T	c.(2158-2160)Gag>Tag	p.E720*	JARID2_ENST00000397311.3_Nonsense_Mutation_p.E548*|JARID2_ENST00000541660.1_Nonsense_Mutation_p.E682*	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	720					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				CCGGCGGCTGGAGAAGGAGGT	0.642													T	15501350	G	T	15501350	4	4	453	1	0	0	0	0	0	1	0	0	8003	1175	41	4	2188	4	JARID2	6	15501350	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		15501350	155613717	21	43615											
BTN2A2	10385	broad.mit.edu	37	chr6	26393183	26393183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcacagagtggggacccaCcagagcctatagaatcaatt	13	8	9	11	0	2	3	2	0	0	3	2	4	2	4	3	2	1	0	3	2	4	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:26393183C>T	ENST00000356709.4	+	8	1671	c.1560C>T	c.(1558-1560)caC>caT	p.H520H	BTN2A2_ENST00000352867.2_Silent_p.H404H|BTN2A2_ENST00000469230.1_Intron|BTN2A2_ENST00000432533.2_3'UTR|BTN2A2_ENST00000482536.1_Silent_p.H310H|BTN2A2_ENST00000416795.2_Silent_p.H520H	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	520					negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TGGGGACCCACCAGAGCCTAT	0.567													T	26393183	C	T	26393183	2	4	453	1	0	0	0	0	0	0	0	1	1571	506	18	2		2	BTN2A2	6	26393183	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	10891833	26393183	144721884	22	43616											
SCAND3	114821	broad.mit.edu	37	chr6	28543532	28543532	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacgtccaccatgtccaatgCtgagatgtgtattatgcaga	11	12	9	9	1	0	2	0	1	0	2	2	3	2	2	3	0	3	3	3	0	4	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28543532C>G	ENST00000452236.2	-	3	1567	c.950G>C	c.(949-951)aGc>aCc	p.S317T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	317					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						ATGTCCAATGCTGAGATGTGT	0.378													G	28543532	C	G	28543532	3	3	453	1	0	0	0	0	1	0	0	0	13968	797	28	4	3035	4	SCAND3	6	28543532	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	2150349	28543532	142571535	23	43617											
ZNF311	282890	broad.mit.edu	37	chr6	28963224	28963224	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctctccagtgtggattcTctgatggatggtaaggcagt	7	15	12	7	0	2	1	0	1	2	0	5	3	3	3	1	4	0	2	1	4	1	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:28963224T>G	ENST00000377179.3	-	7	2067	c.1555A>C	c.(1555-1557)Aga>Cga	p.R519R	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						GTGTGGATTCTCTGATGGATG	0.468													G	28963224	T	G	28963224	2	3	453	1	0	0	0	0	0	0	0	1	17935	1559	54	5		5	ZNF311	6	28963224	Silent	SNP	T	TCGA-E1-A7YM-01A-11D-A34A-08	419692	28963224	142151843	24	43618											
MICB	4277	broad.mit.edu	37	chr6	31475003	31475003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtggccaccaggattcGccaaggagaggagcagaggt	10	5	17	9	1	0	2	0	0	0	2	1	5	0	4	3	6	1	1	3	6	1	1			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:31475003G>A	ENST00000252229.6	+	4	897	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MICB_ENST00000399150.3_Missense_Mutation_p.R230H|MICB_ENST00000538442.1_Missense_Mutation_p.R241H	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	273	Ig-like C1-type.				antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ACCAGGATTCGCCAAGGAGAG	0.607													A	31475003	G	A	31475003	3	1	453	1	0	0	0	0	1	0	0	0	9650	1087	38	1	832	1	MICB	6	31475003	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	2511779	31475003	139640064	25	43619											
GABRR1	2569	broad.mit.edu	37	chr6	89888740	89888740	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcactgtagttgccgtccaGcatcgcagtgcggggcggag	7	8	15	11	4	1	0	1	0	0	0	3	1	2	1	2	3	3	4	2	3	1	2			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:89888740G>A	ENST00000435811.1	-	9	1592	c.1138C>T	c.(1138-1140)Ctg>Ttg	p.L380L	GABRR1_ENST00000454853.2_Silent_p.L397L|GABRR1_ENST00000369451.3_Silent_p.L310L	NM_001256703.1	NP_001243632.1	P24046	GBRR1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 1	397					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(7)|lung(16)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	35		all_cancers(76;9.49e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.46e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;0.000114)		BRCA - Breast invasive adenocarcinoma(108;0.00917)	Picrotoxin(DB00466)	TTGCCGTCCAGCATCGCAGTG	0.562													A	89888740	G	A	89888740	2	1	453	1	0	0	0	0	0	0	0	1	6228	962	34	2		2	GABRR1	6	89888740	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	58413737	89888740	81226327	26	43620											
UBE2J1	51465	broad.mit.edu	37	chr6	90039674	90039674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgaggaattctggagtccGtactaggaaattttaagaaa	14	11	11	5	1	1	2	0	1	1	1	2	5	2	5	1	3	1	2	1	3	6	5			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:90039674G>A	ENST00000435041.2	-	8	959	c.681C>T	c.(679-681)taC>taT	p.Y227Y		NM_016021.2	NP_057105.2	Q9Y385	UB2J1_HUMAN	ubiquitin-conjugating enzyme E2, J1	227						endoplasmic reticulum membrane|integral to membrane	ATP binding|ubiquitin-protein ligase activity			NS(1)|breast(2)|kidney(1)|large_intestine(2)|lung(11)|stomach(1)	18		all_cancers(76;1.65e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;2.5e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0139)		TCTGGAGTCCGTACTAGGAAA	0.428													A	90039674	G	A	90039674	2	1	453	1	0	0	0	0	0	0	0	1	16962	1140	40	1		1	UBE2J1	6	90039674	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	150934	90039674	81075393	27	43621											
FAM26D	221301	broad.mit.edu	37	chr6	116879357	116879357	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagacagatcaagaggtAttgaattaaaaccttgatta	18	10	9	4	0	1	5	1	2	0	3	1	6	1	6	1	2	1	1	1	2	7	5			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr6:116879357A>G	ENST00000368596.3	+	2	972	c.928A>G	c.(928-930)Att>Gtt	p.I310V	FAM26D_ENST00000368597.2_Missense_Mutation_p.I124V|FAM26D_ENST00000405399.1_Missense_Mutation_p.I167V|FAM26D_ENST00000416171.2_Missense_Mutation_p.I166V			Q5JW98	FA26D_HUMAN	family with sequence similarity 26, member D	310						integral to membrane				endometrium(1)|lung(5)	6		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0258)|all cancers(137;0.0458)|OV - Ovarian serous cystadenocarcinoma(136;0.0694)|Epithelial(106;0.222)		ATCAAGAGGTATTGAATTAAA	0.398													G	116879357	A	G	116879357	3	3	453	1	0	0	0	0	1	0	0	0	5600	449	16	3	372	3	FAM26D	6	116879357	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08	26839683	116879357	54235710	28	43622											
BBS9	27241	broad.mit.edu	37	chr7	33407399	33407399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttttgccagtcagtcagatGatgatcaggtgaatgtaatg	11	13	12	5	0	3	4	3	3	0	1	3	4	3	4	1	1	1	2	1	1	2	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:33407399G>A	ENST00000242067.6	+	17	2235	c.1714G>A	c.(1714-1716)Gat>Aat	p.D572N	BBS9_ENST00000350941.3_Missense_Mutation_p.D532N|BBS9_ENST00000354265.4_Missense_Mutation_p.D537N|BBS9_ENST00000396127.2_Missense_Mutation_p.D537N|BBS9_ENST00000355070.2_Missense_Mutation_p.D567N	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	572					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			TCAGTCAGATGATGATCAGGT	0.373									Bardet-Biedl syndrome				A	33407399	G	A	33407399	3	1	453	1	0	0	0	0	1	0	0	0	1347	1290	45	2	1776	2	BBS9	7	33407399	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		33407399	125731264	29	43623											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	453	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	21814423	55221822	103916841	30	43624											
HR	55806	broad.mit.edu	37	chr8	21978705	21978705	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggggccctcggccagcaCggtcctctgctggggtctca	4	7	15	15	2	2	0	1	0	2	0	5	0	3	0	3	6	2	3	3	6	0	0			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:21978705C>T	ENST00000381418.4	-	10	3720	c.2240G>A	c.(2239-2241)cGt>cAt	p.R747H	HR_ENST00000312841.8_Missense_Mutation_p.R747H	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	747							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		TCGGCCAGCACGGTCCTCTGC	0.632													T	21978705	C	T	21978705	3	4	453	1	0	0	0	0	1	0	0	0	7402	536	19	1	1369	1	HR	8	21978705	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		21978705	124385317	31	43625											
TEX15	56154	broad.mit.edu	37	chr8	30704051	30704051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atggataatctgcattttcaCcaaaaggctgggaataaatg	15	11	9	6	0	2	0	1	0	1	0	2	2	2	2	1	3	1	2	1	3	6	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr8:30704051C>T	ENST00000256246.2	-	1	2557	c.2483G>A	c.(2482-2484)gGt>gAt	p.G828D		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	828										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TGCATTTTCACCAAAAGGCTG	0.358													T	30704051	C	T	30704051	3	4	453	1	0	0	0	0	1	0	0	0	15879	507	18	2	5902	2	TEX15	8	30704051	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	8725346	30704051	115659971	32	43626											
DOCK8	81704	broad.mit.edu	37	chr9	325674	325674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctctttctatggtaggttCgagattgaaattgagcccct	8	15	9	9	1	2	3	0	2	2	1	4	4	2	3	2	2	1	2	2	2	3	6			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:325674C>T	ENST00000432829.2	+	8	943	c.627C>T	c.(625-627)ttC>ttT	p.F209F	DOCK8_ENST00000469391.1_Silent_p.F209F|DOCK8_ENST00000453981.1_Silent_p.F277F	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	277					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ATGGTAGGTTCGAGATTGAAA	0.358													T	325674	C	T	325674	2	4	453	1	0	0	0	0	0	0	0	1	4732	883	31	1		1	DOCK8	9	325674	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		325674	140887757	33	43627											
MORN5	254956	broad.mit.edu	37	chr9	124929186	124929186	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatttgggaaaacggattgGccataaaggtgatcagctgg	12	9	13	7	1	1	1	1	1	0	0	1	3	1	3	2	5	2	1	2	5	4	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:124929186G>A	ENST00000536616.1	+	2	225	c.187G>A	c.(187-189)Gcc>Acc	p.A63T	MORN5_ENST00000486801.1_3'UTR|MORN5_ENST00000373764.3_Missense_Mutation_p.A63T			Q5VZ52	MORN5_HUMAN	MORN repeat containing 5	63										endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	9						AAACGGATTGGCCATAAAGGT	0.557													A	124929186	G	A	124929186	3	1	453	1	0	0	0	0	1	0	0	0	9787	1203	42	2	193	2	MORN5	9	124929186	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	124603512	124929186	16284245	34	43628											
DBH	1621	broad.mit.edu	37	chr9	136508598	136508598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggaagtcttccagtgcGcccccgagatggacagcgtc	9	7	12	13	3	1	1	0	0	1	1	3	4	2	3	3	2	2	0	3	2	1	1			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr9:136508598G>A	ENST00000393056.2	+	4	820	c.808G>A	c.(808-810)Gcc>Acc	p.A270T		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	270					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTTCCAGTGCGCCCCCGAGAT	0.662													A	136508598	G	A	136508598	3	1	453	1	0	0	0	0	1	0	0	0	4284	1087	38	1	822	1	DBH	9	136508598	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	11579412	136508598	4704833	35	43629											
MYOF	26509	broad.mit.edu	37	chr10	95082849	95082849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaccctttgacgtagatGtcactcatttcctctcctgt	6	16	5	14	1	3	2	2	1	1	1	5	2	4	2	4	0	1	1	4	0	2	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr10:95082849G>A	ENST00000371501.4	-	48	5564	c.5442C>T	c.(5440-5442)gaC>gaT	p.D1814D	MYOF_ENST00000358334.5_Silent_p.D1801D|MYOF_ENST00000371502.4_Silent_p.D1804D|MYOF_ENST00000359263.4_Silent_p.D1814D			Q9NZM1	MYOF_HUMAN	myoferlin	1814					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGACGTAGATGTCACTCATTT	0.458													A	95082849	G	A	95082849	2	1	453	1	0	0	0	0	0	0	0	1	10165	1368	48	2		2	MYOF	10	95082849	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		95082849	40451898	36	43630											
MUC2	4583	broad.mit.edu	37	chr11	1081707	1081707	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaagacggccagcgggctGgtggaggccacgggggccgg	6	4	20	11	4	1	1	1	0	0	1	1	2	1	2	3	8	1	1	3	8	1	1			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:1081707G>A	ENST00000441003.2	+	13	1662	c.1635G>A	c.(1633-1635)ctG>ctA	p.L545L	MUC2_ENST00000359061.5_Silent_p.L545L	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	545	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAGCGGGCTGGTGGAGGCCA	0.632													A	1081707	G	A	1081707	2	1	453	1	0	0	0	0	0	0	0	1	10051	1335	47	2		2	MUC2	11	1081707	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		1081707	133924809	37	43631											
OR51E2	81285	broad.mit.edu	37	chr11	4703777	4703777	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaagaggtacatcggagcGtgcaggctgcgttccgtcct	9	8	14	10	4	0	2	0	0	0	2	3	3	2	3	2	3	4	4	2	3	2	2			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:4703777G>A	ENST00000396950.3	-	2	404	c.165C>T	c.(163-165)caC>caT	p.H55H		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		ACATCGGAGCGTGCAGGCTGC	0.517													A	4703777	G	A	4703777	2	1	453	1	0	0	0	0	0	0	0	1	11171	1136	40	1		1	OR51E2	11	4703777	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	3622070	4703777	130302739	38	43632											
OR4C12	283093	broad.mit.edu	37	chr11	50003756	50003756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcataggcttgagccatacaCccattaaaggagatgatttt	13	11	9	8	0	0	3	0	2	0	1	0	4	0	3	2	2	2	2	2	2	4	6			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:50003756C>T	ENST00000335238.4	-	1	315	c.282G>A	c.(280-282)ggG>ggA	p.G94G		NM_001005270.2	NP_001005270.2	Q96R67	OR4CC_HUMAN	olfactory receptor, family 4, subfamily C, member 12	94					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(4)|large_intestine(3)|liver(1)|lung(19)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	36						GAGCCATACACCCATTAAAGG	0.433													T	50003756	C	T	50003756	2	4	453	1	0	0	0	0	0	0	0	1	11122	494	18	2		2	OR4C12	11	50003756	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	45299979	50003756	85002760	39	43633											
SERPING1	710	broad.mit.edu	37	chr11	57373887	57373887	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcttccctctagccaagtGgaagacaacatttgatccca	11	10	6	14	0	2	2	0	1	2	1	4	3	4	3	4	1	2	0	4	1	4	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:57373887G>A	ENST00000403558.1	+	5	1391	c.1025G>A	c.(1024-1026)tGg>tAg	p.W342*	SERPING1_ENST00000340687.6_Nonsense_Mutation_p.W299*|SERPING1_ENST00000378324.2_Nonsense_Mutation_p.W247*|SERPING1_ENST00000378323.4_Nonsense_Mutation_p.W304*|SERPING1_ENST00000278407.4_Nonsense_Mutation_p.W299*	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	299					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						CTAGCCAAGTGGAAGACAACA	0.443													A	57373887	G	A	57373887	4	1	453	1	0	0	0	0	0	1	0	0	14209	1357	47	2	914	2	SERPING1	11	57373887	Nonsense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	7370131	57373887	77632629	40	43634											
LAYN	143903	broad.mit.edu	37	chr11	111431122	111431122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatttatgagttctcccCagaccaaatggggaggagta	12	10	11	8	0	1	3	0	2	1	1	2	5	1	5	3	3	0	2	3	3	3	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr11:111431122C>T	ENST00000436913.2	+	6	1030	c.629C>T	c.(628-630)cCa>cTa	p.P210L	LAYN_ENST00000375615.3_Missense_Mutation_p.P363L|LAYN_ENST00000533265.1_3'UTR|LAYN_ENST00000525126.1_3'UTR|LAYN_ENST00000375614.2_Missense_Mutation_p.P355L	NM_001258391.1	NP_001245320.1	Q6UX15	LAYN_HUMAN	layilin	363						cell surface|integral to membrane|ruffle	hyaluronic acid binding|sugar binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|skin(1)	14		all_cancers(61;9.06e-10)|all_epithelial(67;1.34e-05)|Melanoma(852;1.74e-05)|all_hematologic(158;0.000885)|Acute lymphoblastic leukemia(157;0.000966)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.086)		Epithelial(105;1.5e-06)|BRCA - Breast invasive adenocarcinoma(274;1.63e-06)|all cancers(92;2.45e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0476)		GAGTTCTCCCCAGACCAAATG	0.418													T	111431122	C	T	111431122	3	4	453	1	0	0	0	0	1	0	0	0	8708	594	21	2	1090	2	LAYN	11	111431122	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	54057235	111431122	23575394	41	43635											
KCNA5	3741	broad.mit.edu	37	chr12	5155075	5155075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccctagagaagtgtaacGtcaaggccaagagcaacgtg	13	5	12	11	2	1	2	1	0	0	2	1	3	1	2	3	1	3	2	3	1	6	2			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:5155075G>A	ENST00000252321.3	+	1	1991	c.1762G>A	c.(1762-1764)Gtc>Atc	p.V588I		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	588						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GAAGTGTAACGTCAAGGCCAA	0.592													A	5155075	G	A	5155075	3	1	453	1	0	0	0	0	1	0	0	0	8064	1145	40	1	1764	1	KCNA5	12	5155075	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		5155075	128696820	42	43636											
GPR133	283383	broad.mit.edu	37	chr12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtggagctgtatacgCgggacaattccatgacatgg	9	10	13	9	2	1	1	0	1	1	0	2	3	2	3	1	3	2	3	1	3	3	3	rs144030317		TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587													T	131466566	C	T	131466566	3	4	453	1	0	0	0	0	1	0	0	0	6697	759	27	1	466	1	GPR133	12	131466566	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	126311491	131466566	2385329	43	43637											
KL	9365	broad.mit.edu	37	chr13	33638052	33638052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaacgaccgcacagctcCgaggtttggcctctatcgtt	7	12	10	12	4	1	0	0	0	1	0	3	2	2	0	3	2	2	5	3	2	2	5			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:33638052C>T	ENST00000380099.3	+	5	2776	c.2768C>T	c.(2767-2769)cCg>cTg	p.P923L	KL_ENST00000487852.1_3'UTR	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	923	Glycosyl hydrolase-1 2.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		CGCACAGCTCCGAGGTTTGGC	0.443													T	33638052	C	T	33638052	3	4	453	1	0	0	0	0	1	0	0	0	8389	652	23	1	2786	1	KL	13	33638052	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		33638052	81531826	44	43638											
RB1	5925	broad.mit.edu	37	chr13	48941638	48941641	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															ttttctttcaaggttgaaaaTctttctaaacgatacgaaga																										TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:48941638_48941641delTCTT	ENST00000267163.4	+	10	1086_1089	c.948_951delTCTT	c.(946-951)aatcttfs	p.NL316fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	316					androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(7)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGGTTGAAAATCTTTCTAAACGAT	0.299		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48941641	TCTT	-	48941638	7	5	453	1	0	1	0	1	0	0	0	0	13186	1432	50	0	986	0	RB1	13	48941638	Frame_Shift_Del	DEL	TCTT	TCGA-E1-A7YM-01A-11D-A34A-08	15303586	48941638	66228240	45	43639											
ABCC4	10257	broad.mit.edu	37	chr13	95858796	95858796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacaccaacctggattcttCggatgctgacgattgcctct	8	12	9	12	2	2	2	0	2	2	0	3	5	2	4	3	2	3	1	3	2	1	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:95858796C>T	ENST00000376887.4	-	8	1265	c.1151G>A	c.(1150-1152)cGa>cAa	p.R384Q	ABCC4_ENST00000431522.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Missense_Mutation_p.R384Q|ABCC4_ENST00000536256.1_Missense_Mutation_p.R309Q	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	384					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity	p.R384Q(2)		breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTGGATTCTTCGGATGCTGAC	0.478													T	95858796	C	T	95858796	3	4	453	1	0	0	0	0	1	0	0	0	55	884	31	1	2971	1	ABCC4	13	95858796	Missense_Mutation	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08	46917158	95858796	19311082	46	43640											
ATP11A	23250	broad.mit.edu	37	chr13	113481174	113481174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcgaggggcctctggtgaAcacgtcggacctcaatgaag	9	7	15	10	3	2	2	1	2	1	0	3	4	2	3	2	5	1	0	2	5	3	0			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr13:113481174A>G	ENST00000487903.1	+	12	1278	c.1190A>G	c.(1189-1191)aAc>aGc	p.N397S	ATP11A_ENST00000375630.2_Missense_Mutation_p.N397S|ATP11A_ENST00000283558.8_Missense_Mutation_p.N397S|ATP11A_ENST00000375645.3_Missense_Mutation_p.N397S			P98196	AT11A_HUMAN	ATPase, class VI, type 11A	397					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(12)|lung(17)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	51	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.134)|all_epithelial(44;0.141)				CCTCTGGTGAACACGTCGGAC	0.527													G	113481174	A	G	113481174	3	3	453	1	0	0	0	0	1	0	0	0	1124	43	2	3	1236	3	ATP11A	13	113481174	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08	17622378	113481174	1688704	47	43641											
LIN52	91750	broad.mit.edu	37	chr14	74665655	74665655	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacacgggggaaattcctcaAtattctagagaagcccaaga	15	7	10	9	1	2	2	1	0	1	2	3	5	3	3	2	2	1	0	2	2	6	4			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr14:74665655A>G	ENST00000555028.1	+	6	493	c.326A>G	c.(325-327)aAt>aGt	p.N109S		NM_001024674.2	NP_001019845.1	Q52LA3	LIN52_HUMAN	lin-52 homolog (C. elegans)	109										breast(1)|endometrium(2)|lung(2)	5				BRCA - Breast invasive adenocarcinoma(234;0.00471)		AAATTCCTCAATATTCTAGAG	0.458													G	74665655	A	G	74665655	3	3	453	1	0	0	0	0	1	0	0	0	8869	101	4	3	348	3	LIN52	14	74665655	Missense_Mutation	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08		74665655	32683885	48	43642											
TMOD2	29767	broad.mit.edu	37	chr15	52074950	52074950	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccctgagggaatttgcAaaggctctggagaccaacac	13	6	10	12	0	1	2	0	1	1	1	1	4	1	3	3	3	3	2	3	3	4	1			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:52074950A>G	ENST00000249700.4	+	7	878	c.657A>G	c.(655-657)gcA>gcG	p.A219A	TMOD2_ENST00000539962.2_Silent_p.A175A|TMOD2_ENST00000435126.2_Intron	NM_001142885.1|NM_014548.3	NP_001136357.1|NP_055363.1	Q9NZR1	TMOD2_HUMAN	tropomodulin 2 (neuronal)	219					nervous system development	cytoplasm|cytoskeleton	actin binding|tropomyosin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16				all cancers(107;0.00435)		GGGAATTTGCAAAGGCTCTGG	0.463													G	52074950	A	G	52074950	2	3	453	1	0	0	0	0	0	0	0	1	16334	117	5	3		3	TMOD2	15	52074950	Silent	SNP	A	TCGA-E1-A7YM-01A-11D-A34A-08		52074950	50456442	49	43643											
MYO9A	4649	broad.mit.edu	37	chr15	72338854	72338854	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccaggatatatccgtaaTgtatgttcattatcttcaaa	12	14	6	9	1	3	0	2	0	1	0	4	1	4	1	3	1	0	3	3	1	6	7			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr15:72338854T>C	ENST00000356056.5	-	2	523	c.51A>G	c.(49-51)acA>acG	p.T17T	MYO9A_ENST00000564571.1_Silent_p.T17T|MYO9A_ENST00000444904.1_Silent_p.T17T|MYO9A_ENST00000566885.1_Intron|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Silent_p.T17T	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	17	Ras-associating.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						ATATCCGTAATGTATGTTCAT	0.408													C	72338854	T	C	72338854	2	2	453	1	0	0	0	0	0	0	0	1	10160	1451	51	3		3	MYO9A	15	72338854	Silent	SNP	T	TCGA-E1-A7YM-01A-11D-A34A-08	20263904	72338854	30192538	50	43644											
WDR90	197335	broad.mit.edu	37	chr16	705313	705313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattccttgcaggatggcGtcgtgcgggcagggcagtgt	5	10	16	10	3	1	0	1	0	0	0	3	1	2	1	1	4	2	3	1	4	0	2			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:705313G>A	ENST00000549091.1	+	15	1655	c.1563G>A	c.(1561-1563)gcG>gcA	p.A521A	LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Silent_p.A521A	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	521										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				GCAGGATGGCGTCGTGCGGGC	0.697													A	705313	G	A	705313	2	1	453	1	0	0	0	0	0	0	0	1	17439	1132	40	1		1	WDR90	16	705313	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		705313	89649440	51	43645											
SMG1	23049	broad.mit.edu	37	chr16	18863422	18863424	+	In_Frame_Del	DEL	AAG	AAG	-																															ggccgacacacagcctgtccAagaataccatatattctctc																										TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr16:18863422_18863424delAAG	ENST00000446231.2	-	33	5429_5431	c.5017_5019delCTT	c.(5017-5019)cttdel	p.L1673del	SMG1_ENST00000389467.3_In_Frame_Del_p.L1673del			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	1673	FAT.|Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						CAGCCTGTCCAAGAATACCATAT	0.443													-	18863424	AAG	-	18863422	7	5	453	1	0	1	0	1	0	0	0	0	14889	117	5	0	6090	0	SMG1	16	18863422	In_Frame_Del	DEL	AAG	TCGA-E1-A7YM-01A-11D-A34A-08	18158109	18863422	71491331	52	43646											
OR3A3	8392	broad.mit.edu	37	chr17	3324353	3324353	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggcttgtgccttcaccaaCgcactgacccacactgtggc	7	9	10	15	1	1	1	1	1	0	0	1	1	1	1	3	2	2	2	3	2	1	2			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:3324353C>T	ENST00000291231.1	+	1	492	c.492C>T	c.(490-492)aaC>aaT	p.N164N		NM_012373.2	NP_036505.2	P47888	OR3A3_HUMAN	olfactory receptor, family 3, subfamily A, member 3	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)	9						CCTTCACCAACGCACTGACCC	0.587													T	3324353	C	T	3324353	2	4	453	1	0	0	0	0	0	0	0	1	11115	535	19	1		1	OR3A3	17	3324353	Silent	SNP	C	TCGA-E1-A7YM-01A-11D-A34A-08		3324353	77870857	53	43647											
DNAH9	1770	broad.mit.edu	37	chr17	11840726	11840726	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctatggcctccacccgaacGcagagattggcttcctgacc	8	9	9	15	2	1	2	0	1	1	1	3	4	3	2	5	2	1	2	5	2	2	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:11840726G>A	ENST00000262442.4	+	66	12615	c.12547G>A	c.(12547-12549)Gca>Aca	p.A4183T	DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.A4107T|DNAH9_ENST00000608377.1_Missense_Mutation_p.A495T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CCACCCGAACGCAGAGATTGG	0.577													A	11840726	G	A	11840726	3	1	453	1	0	0	0	0	1	0	0	0	4647	1087	38	1	12809	1	DNAH9	17	11840726	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	8516373	11840726	69354484	54	43648											
IGF2BP1	10642	broad.mit.edu	37	chr17	47119680	47119680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcgagaattgttgcagggccGagcaggaaataatgaagaaa	16	7	13	5	2	0	3	0	1	0	2	1	6	0	4	1	2	2	3	1	2	5	3			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:47119680G>A	ENST00000290341.3	+	9	1352	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K	IGF2BP1_ENST00000431824.2_Missense_Mutation_p.E201K	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	340	KH 2.|Necessary for interaction with ELAVL4 and binding to TAU mRNA (By similarity).				CRD-mediated mRNA stabilization|negative regulation of translation|regulation of mRNA stability involved in response to stress	CRD-mediated mRNA stability complex|cytosol|dendritic spine|lamellipodium|nucleus|plasma membrane|stress granule	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTGCAGGGCCGAGCAGGAAAT	0.512													A	47119680	G	A	47119680	3	1	453	1	0	0	0	0	1	0	0	0	7631	1059	37	1	1052	1	IGF2BP1	17	47119680	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	35278954	47119680	34075530	55	43649											
AFMID	125061	broad.mit.edu	37	chr17	76198801	76198801	+	Frame_Shift_Del	DEL	T	T	-																															cagccttgcctttcttcctgTtctttcacggaggatactgg																										TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr17:76198801delT	ENST00000409257.5	+	4	331	c.277delT	c.(277-279)ttcfs	p.F94fs	AFMID_ENST00000589664.1_3'UTR|AFMID_ENST00000588800.1_Frame_Shift_Del_p.F59fs|AFMID_ENST00000591952.1_Intron|AFMID_ENST00000327898.5_Frame_Shift_Del_p.F94fs	NM_001010982.4|NM_001145526.2	NP_001010982.2|NP_001138998.1	Q63HM1	AFMID_HUMAN	arylformamidase	94						cytosol|nucleus	arylformamidase activity			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|skin(1)	19			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.134)			TTTCTTCCTGTTCTTTCACGG	0.617													-	76198801	T	-	76198801	7	5	453	1	0	1	0	1	0	0	0	0	362	1725	60	0	291	0	AFMID	17	76198801	Frame_Shift_Del	DEL	T	TCGA-E1-A7YM-01A-11D-A34A-08	29079121	76198801	4996409	56	43650											
MAG	4099	broad.mit.edu	37	chr19	35791251	35791251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagacggcgtctatgcctGcctggccgagaatgcctatg	8	8	13	12	4	1	2	0	0	1	2	1	4	1	2	4	2	3	0	4	2	4	2			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:35791251G>A	ENST00000361922.4	+	6	1064	c.914G>A	c.(913-915)tGc>tAc	p.C305Y	MAG_ENST00000392213.3_Missense_Mutation_p.C305Y|MAG_ENST00000537831.2_Missense_Mutation_p.C280Y	NM_080600.2	NP_542167.1	P20916	MAG_HUMAN	myelin associated glycoprotein	305	Ig-like C2-type 2.				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			GTCTATGCCTGCCTGGCCGAG	0.677													A	35791251	G	A	35791251	3	1	453	1	0	0	0	0	1	0	0	0	9233	1319	46	2	928	2	MAG	19	35791251	Missense_Mutation	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		35791251	23337732	57	43651											
FCGBP	8857	broad.mit.edu	37	chr19	40408807	40408807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaggcacggatctggccGttggccagcaccacgggcag	7	5	17	12	3	1	0	0	0	1	0	1	2	1	2	3	6	1	4	3	6	0	1			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chr19:40408807G>A	ENST00000221347.6	-	8	4039	c.4032C>T	c.(4030-4032)aaC>aaT	p.N1344N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	1344	VWFD 3.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGATCTGGCCGTTGGCCAGCA	0.587													A	40408807	G	A	40408807	2	1	453	1	0	0	0	0	0	0	0	1	5827	1136	40	1		1	FCGBP	19	40408807	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08	4617556	40408807	18720176	58	43652											
FGF16	8823	broad.mit.edu	37	chrX	76711876	76711876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagagagacagtattacGtggccctgaacaaagatggc	14	7	11	9	1	1	4	1	1	0	3	1	5	1	4	1	2	2	1	1	2	4	2			TCGA-E1-A7YM-01A-11D-A34A-08	TCGA-E1-A7YM-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	195a493a-389b-4701-87a7-9d26cfbc7ac2	8573d87d-205f-4551-9e76-c3208c0950bf	g.chrX:76711876G>A	ENST00000439435.1	+	2	213	c.213G>A	c.(211-213)acG>acA	p.T71T				O43320	FGF16_HUMAN	fibroblast growth factor 16	0					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|metabolic process|organ morphogenesis|response to temperature stimulus	extracellular space	growth factor activity			NS(1)|breast(1)|lung(2)	4						ACAGTATTACGTGGCCCTGAA	0.463													A	76711876	G	A	76711876	2	1	453	1	0	0	0	0	0	0	0	1	5893	1145	40	1		1	FGF16	23	76711876	Silent	SNP	G	TCGA-E1-A7YM-01A-11D-A34A-08		76711876	78558684	59	43653											
TMEM52	339456	broad.mit.edu	37	chr1	1849422	1849422	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggccccaaggagagggctggGtttctgggagagtgctggtc	6	8	19	8	0	1	2	0	0	1	2	2	4	1	2	2	6	1	3	2	6	1	1			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:1849422G>C	ENST00000378602.3	-	2	724	c.484C>G	c.(484-486)Ccc>Gcc	p.P162A	TMEM52_ENST00000310991.3_Missense_Mutation_p.P177A			Q8NDY8	TMM52_HUMAN	transmembrane protein 52	177						integral to membrane				NS(1)|prostate(1)|stomach(1)	3	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.82e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.75e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		AGAGGGCTGGGTTTCTGGGAG	0.622													C	1849422	G	C	1849422	3	2	454	1	0	0	0	0	1	0	0	0	16278	1261	44	4	104	4	TMEM52	1	1849422	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		1849422	247401199	1	43654											
TMEM201	199953	broad.mit.edu	37	chr1	9661231	9661231	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctcgccttcctggcctgCgccttcctactgaccaccgc	3	9	8	21	3	0	1	0	1	0	0	3	1	2	1	8	1	2	0	8	1	1	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:9661231C>A	ENST00000340305.5	+	5	684	c.675C>A	c.(673-675)tgC>tgA	p.C225*	TMEM201_ENST00000377376.4_Nonsense_Mutation_p.C225*|TMEM201_ENST00000340381.6_Nonsense_Mutation_p.C225*	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	225						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		TCCTGGCCTGCGCCTTCCTAC	0.657													A	9661231	C	A	9661231	4	1	454	1	0	0	0	0	0	1	0	0	16226	776	27	4	693	4	TMEM201	1	9661231	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	7811809	9661231	239589390	2	43655											
RPTN	126638	broad.mit.edu	37	chr1	152128196	152128196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctgaccatagtgggaaCtctggccttgtctgtctgtc	5	14	11	11	0	4	1	0	1	4	0	5	2	4	2	2	2	1	0	2	2	2	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:152128196C>T	ENST00000316073.3	-	3	1443	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	460	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ATAGTGGGAACTCTGGCCTTG	0.512													T	152128196	C	T	152128196	3	4	454	1	0	0	0	0	1	0	0	0	13755	565	20	2	979	2	RPTN	1	152128196	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	142466965	152128196	97122425	3	43656											
SPTA1	6708	broad.mit.edu	37	chr1	158622273	158622273	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaccttttggaactcatcaAactttttctgcagctcccaa	10	14	4	13	0	4	0	3	0	1	0	5	1	5	1	2	1	4	2	2	1	3	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:158622273A>T	ENST00000368147.4	-	23	3539	c.3359T>A	c.(3358-3360)tTt>tAt	p.F1120Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GAACTCATCAAACTTTTTCTG	0.398													T	158622273	A	T	158622273	3	4	454	1	0	0	0	0	1	0	0	0	15212	14	1	5	4020	5	SPTA1	1	158622273	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	6494077	158622273	90628348	4	43657											
MNDA	4332	broad.mit.edu	37	chr1	158815468	158815468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtactgaaagcaacagCgccatttaaatacgagtccc	13	8	10	10	2	0	1	0	1	0	0	1	2	1	1	2	2	5	2	2	2	6	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:158815468C>T	ENST00000368141.4	+	5	923	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	221	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAGCAACAGCGCCATTTAAA	0.468													T	158815468	C	T	158815468	3	4	454	1	0	0	0	0	1	0	0	0	9752	768	27	1	676	1	MNDA	1	158815468	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	193195	158815468	90435153	5	43658											
PIK3C2B	5287	broad.mit.edu	37	chr1	204438640	204438640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttgggcggcccttcctgtggGgagagtgagttgtagttaag	6	12	17	6	1	0	2	0	1	0	1	1	3	1	2	2	4	0	3	2	4	2	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438640G>A	ENST00000367187.3	-	3	847	c.291C>T	c.(289-291)tcC>tcT	p.S97S	PIK3C2B_ENST00000424712.2_Silent_p.S97S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	97	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			CTTCCTGTGGGGAGAGTGAGT	0.572													A	204438640	G	A	204438640	2	1	454	1	0	0	0	0	0	0	0	1	11987	1219	43	2		2	PIK3C2B	1	204438640	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	45623172	204438640	44811981	6	43659			1	61		3	3	178	G		1.146478e-07
PIK3C2B	5287	broad.mit.edu	37	chr1	204438785	204438785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggtctgcgttctgcttgGctctgttctcctccttgtca	2	16	11	12	1	5	0	1	0	4	0	7	0	6	0	2	3	2	4	2	3	0	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438785G>A	ENST00000367187.3	-	3	702	c.146C>T	c.(145-147)gCc>gTc	p.A49V	PIK3C2B_ENST00000424712.2_Missense_Mutation_p.A49V	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	49	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GTTCTGCTTGGCTCTGTTCTC	0.592													A	204438785	G	A	204438785	3	1	454	1	0	0	0	0	1	0	0	0	11987	1203	42	2	4886	2	PIK3C2B	1	204438785	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	145	204438785	44811836	7	43660			1	61		3	3	178	G		1.146478e-07
PIK3C2B	5287	broad.mit.edu	37	chr1	204438817	204438817	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccttgtcatgccggagccgGgacagggcatcatactccat	8	9	11	13	2	2	0	2	0	0	0	4	2	4	2	4	3	3	1	4	3	1	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:204438817G>A	ENST00000367187.3	-	3	670	c.114C>T	c.(112-114)tcC>tcT	p.S38S	PIK3C2B_ENST00000424712.2_Silent_p.S38S	NM_002646.3	NP_002637.3	O00750	P3C2B_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 beta	38	Interaction with GRB2.				cell communication|phosphatidylinositol-mediated signaling	endoplasmic reticulum|microsome|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity|protein binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(4)|large_intestine(11)|lung(24)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	52	all_cancers(21;0.00347)|all_neural(3;0.0218)|Glioma(3;0.0382)|all_epithelial(62;0.171)|Breast(84;0.179)|Prostate(682;0.227)		GBM - Glioblastoma multiforme(2;2.69e-45)|all cancers(3;1.66e-30)|KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)|Epithelial(59;0.193)			GCCGGAGCCGGGACAGGGCAT	0.587													A	204438817	G	A	204438817	2	1	454	1	0	0	0	0	0	0	0	1	11987	1219	43	2		2	PIK3C2B	1	204438817	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	32	204438817	44811804	8	43661			1	61		3	3	178	G		1.146478e-07
OR2L3	391192	broad.mit.edu	37	chr1	248224375	248224375	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttgctttcctcttcactAtcccatccgcatgagcaaaa	10	14	4	13	1	2	1	1	1	1	0	5	1	5	1	3	0	2	3	3	0	4	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr1:248224375A>T	ENST00000359959.3	+	1	392	c.392A>T	c.(391-393)tAt>tTt	p.Y131F	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CCTCTTCACTATCCCATCCGC	0.433													T	248224375	A	T	248224375	3	4	454	1	0	0	0	0	1	0	0	0	11084	449	16	5	394	5	OR2L3	1	248224375	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	43785558	248224375	1026246	9	43662											
LRP2	4036	broad.mit.edu	37	chr2	170050323	170050323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacagtcattatcaccGtcacagatccattcgcttgg	9	11	6	15	2	3	1	3	0	0	1	6	1	5	1	4	1	0	1	4	1	1	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:170050323G>A	ENST00000263816.3	-	47	9063	c.8778C>T	c.(8776-8778)gaC>gaT	p.D2926D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2926	LDL-receptor class A 21.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTATCACCGTCACAGATCC	0.473													A	170050323	G	A	170050323	2	1	454	1	0	0	0	0	0	0	0	1	9026	1136	40	1		1	LRP2	2	170050323	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		170050323	73149050	10	43663											
TTN	7273	broad.mit.edu	37	chr2	179604671	179604671	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggctcttgggtgatgtttAcagcctcgacctccaccttt	5	14	10	12	1	1	1	0	1	1	0	3	2	2	1	4	2	2	2	4	2	1	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:179604671A>T	ENST00000589042.1	-	48	13513	c.13289T>A	c.(13288-13290)gTa>gAa	p.V4430E	TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4192E|TTN_ENST00000460472.2_Missense_Mutation_p.V4067E|TTN_ENST00000342175.6_Missense_Mutation_p.V4259E|TTN_ENST00000591111.1_Missense_Mutation_p.V4113E|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4113	Ig-like 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGATGTTTACAGCCTCGAC	0.463													T	179604671	A	T	179604671	3	4	454	1	0	0	0	0	1	0	0	0	16837	391	14	5	91500	5	TTN	2	179604671	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	9554348	179604671	63594702	11	43664											
ANKMY1	51281	broad.mit.edu	37	chr2	241468646	241468646	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacatttctggaggcagcGttaggttgtcattcagaaga	11	12	11	7	1	3	2	2	0	1	2	3	3	3	3	0	3	2	3	0	3	3	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr2:241468646G>A	ENST00000391987.1	-	5	860	c.494C>T	c.(493-495)aCg>aTg	p.T165M	ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.T165M|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000401804.1_Missense_Mutation_p.T254M|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	165							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TGGAGGCAGCGTTAGGTTGTC	0.502													A	241468646	G	A	241468646	3	1	454	1	0	0	0	0	1	0	0	0	634	1145	40	1	2387	1	ANKMY1	2	241468646	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	61863975	241468646	1730727	12	43665											
CNTN4	152330	broad.mit.edu	37	chr3	2787238	2787238	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaacagatgttgacactgGtatggatttccgctacagtg	10	12	12	7	1	0	2	0	1	0	1	1	4	1	4	1	3	2	3	1	3	3	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr3:2787238G>T	ENST00000397461.1	+	5	599	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CNTN4_ENST00000418658.1_Missense_Mutation_p.G72V|CNTN4_ENST00000427331.1_Missense_Mutation_p.G72V	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	72	Ig-like C2-type 1.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GTTGACACTGGTATGGATTTC	0.378													T	2787238	G	T	2787238	3	4	454	1	0	0	0	0	1	0	0	0	3674	1261	44	4	225	4	CNTN4	3	2787238	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		2787238	195235192	13	43666											
CLEC3B	7123	broad.mit.edu	37	chr3	45072406	45072406	+	Frame_Shift_Del	DEL	C	C	-																															cctgctgaaggagcagcaggCcctgcagacgggtgagtgca																										TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr3:45072406delC	ENST00000296130.4	+	2	377	c.197delC	c.(196-198)gccfs	p.A66fs	CLEC3B_ENST00000428034.1_Frame_Shift_Del_p.A24fs|CLEC3B_ENST00000490386.1_3'UTR	NM_003278.2	NP_003269.2	P05452	TETN_HUMAN	C-type lectin domain family 3, member B	66					skeletal system development	extracellular space	protein binding|sugar binding			endometrium(1)|lung(3)	4				BRCA - Breast invasive adenocarcinoma(193;0.00863)|KIRC - Kidney renal clear cell carcinoma(197;0.0475)|Kidney(197;0.0595)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GAGCAGCAGGCCCTGCAGACG	0.612													-	45072406	C	-	45072406	7	5	454	1	0	1	0	1	0	0	0	0	3542	739	26	0	203	0	CLEC3B	3	45072406	Frame_Shift_Del	DEL	C	TCGA-E1-A7YN-01A-11D-A34A-08	42285168	45072406	152950024	14	43667											
SMR3A	26952	broad.mit.edu	37	chr4	71232487	71232487	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctccaccctatggtccaGggagatttccaccacccctt	8	10	6	17	0	0	1	0	0	0	1	4	2	4	1	8	2	0	0	8	2	1	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:71232487G>T	ENST00000226460.4	+	3	277	c.181G>T	c.(181-183)Ggg>Tgg	p.G61W		NM_012390.3	NP_036522.3	Q99954	SMR3A_HUMAN	submaxillary gland androgen regulated protein 3A	61	Pro-rich.					extracellular region				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)	15		all_hematologic(202;0.196)				CTATGGTCCAGGGAGATTTCC	0.552													T	71232487	G	T	71232487	3	4	454	1	0	0	0	0	1	0	0	0	14905	1000	35	4	187	4	SMR3A	4	71232487	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		71232487	119921789	15	43668											
FRAS1	80144	broad.mit.edu	37	chr4	79437135	79437135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgactgagctgattgacGtctgtgggggctctgtaacc	8	11	13	9	1	2	4	0	4	2	0	2	4	2	4	1	2	2	3	1	2	1	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:79437135G>A	ENST00000264895.6	+	66	10797	c.10357G>A	c.(10357-10359)Gtc>Atc	p.V3453I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3448					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GCTGATTGACGTCTGTGGGGG	0.537													A	79437135	G	A	79437135	3	1	454	1	0	0	0	0	1	0	0	0	6093	1145	40	1	10694	1	FRAS1	4	79437135	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	8204648	79437135	111717141	16	43669											
BMP3	651	broad.mit.edu	37	chr4	81967316	81967316	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtatatgccaatgatgcCgccatttctgagccagaaag	11	11	10	9	1	1	3	0	2	1	1	1	3	1	3	4	1	3	1	4	1	4	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:81967316C>T	ENST00000282701.2	+	2	1061	c.741C>T	c.(739-741)gcC>gcT	p.A247A		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	247					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CCAATGATGCCGCCATTTCTG	0.483													T	81967316	C	T	81967316	2	4	454	1	0	0	0	0	0	0	0	1	1467	639	23	1		1	BMP3	4	81967316	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2530181	81967316	109186960	17	43670											
UNC5C	8633	broad.mit.edu	37	chr4	96163694	96163694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcgccagtgggtgcActcagttccacaagtagacc	8	8	10	15	1	1	1	1	0	0	1	3	1	3	1	5	1	2	3	5	1	2	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:96163694A>G	ENST00000453304.1	-	7	1342	c.994T>C	c.(994-996)Tgc>Cgc	p.C332R	UNC5C_ENST00000506749.1_Missense_Mutation_p.C332R	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	332	TSP type-1 2.				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		CAGTGGGTGCACTCAGTTCCA	0.592													G	96163694	A	G	96163694	3	3	454	1	0	0	0	0	1	0	0	0	17095	159	6	3	1841	3	UNC5C	4	96163694	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	14196378	96163694	94990582	18	43671											
UFSP2	55325	broad.mit.edu	37	chr4	186339907	186339907	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcaacacatgtttcagtgCcttcttgagaaaaatttcta	13	14	5	9	0	4	1	2	1	2	1	4	2	4	1	1	0	2	1	1	0	4	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr4:186339907C>A	ENST00000264689.6	-	3	216	c.100G>T	c.(100-102)Gca>Tca	p.A34S	UFSP2_ENST00000502282.1_5'UTR	NM_018359.3	NP_060829.2	Q9NUQ7	UFSP2_HUMAN	UFM1-specific peptidase 2	34						endoplasmic reticulum|nucleus	small conjugating protein-specific protease activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;3.4e-25)|Epithelial(43;2.23e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;8.1e-05)|GBM - Glioblastoma multiforme(59;0.000148)|STAD - Stomach adenocarcinoma(60;0.000782)|LUSC - Lung squamous cell carcinoma(40;0.00939)|COAD - Colon adenocarcinoma(29;0.0108)|READ - Rectum adenocarcinoma(43;0.166)		TGTTTCAGTGCCTTCTTGAGA	0.343													A	186339907	C	A	186339907	3	1	454	1	0	0	0	0	1	0	0	0	17040	739	26	4	1349	4	UFSP2	4	186339907	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	90176213	186339907	4814369	19	43672											
TXNDC15	79770	broad.mit.edu	37	chr5	134210146	134210146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctgccggtcgacgaccgcCccgcgtcatgcggctcctcg	3	6	14	18	8	1	0	1	0	0	0	4	2	2	0	5	3	2	2	5	3	0	0			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:134210146C>T	ENST00000358387.4	+	1	654	c.29C>T	c.(28-30)cCc>cTc	p.P10L		NM_024715.3	NP_078991.3	Q96J42	TXD15_HUMAN	thioredoxin domain containing 15	10					cell redox homeostasis	integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CGACGACCGCCCCGCGTCATG	0.716													T	134210146	C	T	134210146	3	4	454	1	0	0	0	0	1	0	0	0	16896	623	22	2	31	2	TXNDC15	5	134210146	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		134210146	46705114	20	43673											
SH3RF2	153769	broad.mit.edu	37	chr5	145379666	145379666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actacagagggcagaatcccGgtgacctaaggtttaataag	14	8	11	8	1	0	3	0	1	0	2	1	3	1	3	2	3	1	2	2	3	5	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:145379666G>A	ENST00000511217.1	+	2	476	c.424G>A	c.(424-426)Ggt>Agt	p.G142S	SH3RF2_ENST00000359120.4_Missense_Mutation_p.G142S			Q8TEC5	SH3R2_HUMAN	SH3 domain containing ring finger 2	142	SH3 1.						ligase activity|protein phosphatase 1 binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCAGAATCCCGGTGACCTAAG	0.483													A	145379666	G	A	145379666	3	1	454	1	0	0	0	0	1	0	0	0	14353	1116	39	1	430	1	SH3RF2	5	145379666	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	11169520	145379666	35535594	21	43674											
CAMK2A	815	broad.mit.edu	37	chr5	149636365	149636365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatactcccgggccacgAtatcttcaaacagttcccca	11	10	6	14	2	2	0	1	0	1	0	4	1	4	0	4	1	2	2	4	1	4	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr5:149636365A>G	ENST00000348628.6	-	5	967	c.302T>C	c.(301-303)aTc>aCc	p.I101T	CAMK2A_ENST00000398376.3_Missense_Mutation_p.I101T	NM_015981.3|NM_171825.2	NP_057065.2|NP_741960.1	Q9UQM7	KCC2A_HUMAN	calcium/calmodulin-dependent protein kinase II alpha	101	Protein kinase.				interferon-gamma-mediated signaling pathway|positive regulation of NF-kappaB transcription factor activity|synaptic transmission	cell junction|cytosol|endocytic vesicle membrane|nucleoplasm|presynaptic membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)	15		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCGGGCCACGATATCTTCAAA	0.592													G	149636365	A	G	149636365	3	3	454	1	0	0	0	0	1	0	0	0	2625	333	12	3	1227	3	CAMK2A	5	149636365	Missense_Mutation	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	4256699	149636365	31278895	22	43675											
SCAND3	114821	broad.mit.edu	37	chr6	28539970	28539970	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgattttcaatccttcgtcGgtagccagcttcaacaactt	9	14	6	12	2	2	1	2	1	0	0	5	1	3	1	2	1	4	2	2	1	4	6			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:28539970G>A	ENST00000452236.2	-	4	4313	c.3696C>T	c.(3694-3696)acC>acT	p.T1232T		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1232					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						atccttcgtcggtagccagct	0.343													A	28539970	G	A	28539970	2	1	454	1	0	0	0	0	0	0	0	1	13968	1103	39	1		1	SCAND3	6	28539970	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		28539970	142575097	23	43676											
COL11A2	1302	broad.mit.edu	37	chr6	33145197	33145197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccgctcacctgggtccCaggggtgccctgttgtccag	4	8	14	15	1	1	0	1	0	0	0	3	0	3	0	5	4	1	3	5	4	0	1			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:33145197C>T	ENST00000341947.2	-	23	2190	c.1963G>A	c.(1963-1965)Ggg>Agg	p.G655R	COL11A2_ENST00000395197.1_Missense_Mutation_p.G595R|COL11A2_ENST00000361917.1_Missense_Mutation_p.G548R|COL11A2_ENST00000374712.1_Missense_Mutation_p.G574R|COL11A2_ENST00000374708.4_Missense_Mutation_p.G569R|COL11A2_ENST00000477772.1_5'UTR|COL11A2_ENST00000374714.1_Missense_Mutation_p.G629R|COL11A2_ENST00000374713.1_Missense_Mutation_p.G608R|COL11A2_ENST00000357486.1_Missense_Mutation_p.G634R	NM_080680.2	NP_542411.2	P13942	COBA2_HUMAN	collagen, type XI, alpha 2	655	Triple-helical region.				cartilage development|cell adhesion|collagen fibril organization|sensory perception of sound|soft palate development	collagen type XI	extracellular matrix structural constituent conferring tensile strength|protein binding, bridging			biliary_tract(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|liver(1)|lung(27)|ovary(5)|prostate(5)|skin(6)	68						ACCTGGGTCCCAGGGGTGCCC	0.552													T	33145197	C	T	33145197	3	4	454	1	0	0	0	0	1	0	0	0	3699	594	21	2	3423	2	COL11A2	6	33145197	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	4605227	33145197	137969870	24	43677											
GPR115	221393	broad.mit.edu	37	chr6	47681909	47681909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagcccacttgcaaaatGtgagtcttcccagacaggta	13	8	10	10	0	1	3	0	1	1	2	2	4	2	3	2	1	2	2	2	1	4	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:47681909G>A	ENST00000283303.2	+	6	1186	c.928G>A	c.(928-930)Gtg>Atg	p.V310M	GPR115_ENST00000371220.1_Missense_Mutation_p.V367M|GPR115_ENST00000327753.3_Missense_Mutation_p.V310M	NM_153838.3	NP_722580.3	Q8IZF3	GP115_HUMAN	G protein-coupled receptor 115	310					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	52						CTTGCAAAATGTGAGTCTTCC	0.468													A	47681909	G	A	47681909	3	1	454	1	0	0	0	0	1	0	0	0	6686	1377	48	2	946	2	GPR115	6	47681909	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	14536712	47681909	123433158	25	43678											
DST	667	broad.mit.edu	37	chr6	56362694	56362695	+	Frame_Shift_Ins	INS	-	-	T																															ctgctgcttcctttgttctgINSttttttccaaaacattttgc																										TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:56362694_56362695insT	ENST00000370754.5	-	81	19959_19960	c.19960_19961insA	c.(19960-19962)acafs	p.T6654fs	DST_ENST00000370788.2_Frame_Shift_Ins_p.T4279fs|DST_ENST00000340834.4_5'UTR|DST_ENST00000421834.2_Frame_Shift_Ins_p.T4388fs|DST_ENST00000370769.4_Frame_Shift_Ins_p.T6476fs|DST_ENST00000446842.2_Frame_Shift_Ins_p.T6150fs|DST_ENST00000361203.3_Frame_Shift_Ins_p.T6365fs|DST_ENST00000312431.6_3'UTR|DST_ENST00000244364.6_Frame_Shift_Ins_p.T4062fs			Q03001	DYST_HUMAN	dystonin	6474					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			CCTTTGTTCTGTTTTTTCCAAA	0.391													T	56362695	-	T	56362694	7	5	454	1	0	1	1	0	0	0	0	0	4822	1377	48	0	3422	0	DST	6	56362694	Frame_Shift_Ins	INS	-	TCGA-E1-A7YN-01A-11D-A34A-08	8680785	56362694	114752373	26	43679											
MYO6	4646	broad.mit.edu	37	chr6	76599795	76599795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactatgatgacgcaggaaCaaatccagaaagaatatgat	18	7	8	8	1	0	5	0	3	0	2	1	6	1	6	2	1	1	1	2	1	6	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:76599795C>G	ENST00000369981.3	+	26	2959	c.2680C>G	c.(2680-2682)Caa>Gaa	p.Q894E	MYO6_ENST00000369977.3_Missense_Mutation_p.Q894E|MYO6_ENST00000369985.4_Missense_Mutation_p.Q894E|MYO6_ENST00000369975.1_Missense_Mutation_p.Q894E			Q9UM54	MYO6_HUMAN	myosin VI	894					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GACGCAGGAACAAATCCAGAA	0.353													G	76599795	C	G	76599795	3	3	454	1	0	0	0	0	1	0	0	0	10157	479	17	4	2778	4	MYO6	6	76599795	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	20237101	76599795	94515272	27	43680											
LACE1	246269	broad.mit.edu	37	chr6	108645100	108645100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttatttgaaagctttggccGtttgccatggacctctggac	7	14	10	10	1	1	1	0	1	1	0	1	3	1	3	3	3	2	2	3	3	2	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:108645100G>A	ENST00000368977.4	+	2	397	c.211G>A	c.(211-213)Gtt>Att	p.V71I		NM_145315.3	NP_660358.2	Q8WV93	LACE1_HUMAN	lactation elevated 1	71							ATP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(4)|upper_aerodigestive_tract(1)	15		all_cancers(87;1.5e-07)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;6.79e-05)|Colorectal(196;0.0294)|all_lung(197;0.0486)|Lung SC(18;0.152)		BRCA - Breast invasive adenocarcinoma(108;0.00179)|Epithelial(106;0.0024)|all cancers(137;0.00379)|OV - Ovarian serous cystadenocarcinoma(136;0.0118)		AGCTTTGGCCGTTTGCCATGG	0.398													A	108645100	G	A	108645100	3	1	454	1	0	0	0	0	1	0	0	0	8654	1145	40	1	217	1	LACE1	6	108645100	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	32045305	108645100	62469967	28	43681											
EYA4	2070	broad.mit.edu	37	chr6	133789766	133789766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtattattcagcatcaacGtatggagcgtatatgacatc	13	12	8	8	2	2	1	2	1	0	0	3	2	2	2	0	1	3	4	0	1	6	6			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:133789766G>A	ENST00000367895.5	+	11	1331	c.867G>A	c.(865-867)acG>acA	p.T289T	EYA4_ENST00000531901.1_Silent_p.T289T|EYA4_ENST00000355286.6_Silent_p.T266T|EYA4_ENST00000431403.2_Silent_p.T289T|EYA4_ENST00000430974.2_Silent_p.T235T|EYA4_ENST00000452339.2_Silent_p.T235T|EYA4_ENST00000525849.1_Silent_p.T266T|EYA4_ENST00000355167.3_Silent_p.T289T	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)	289					anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		CAGCATCAACGTATGGAGCGT	0.423													A	133789766	G	A	133789766	2	1	454	1	0	0	0	0	0	0	0	1	5373	1132	40	1		1	EYA4	6	133789766	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	25144666	133789766	37325301	29	43682											
BCLAF1	9774	broad.mit.edu	37	chr6	136594291	136594291	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatacgaagtgaaccgctcGtttagggtcattgcagctga	10	11	12	8	3	1	3	1	3	0	0	2	4	1	3	1	1	4	4	1	1	4	4	rs148264625	byFrequency	TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr6:136594291G>A	ENST00000531224.1	-	7	2139	c.1887C>T	c.(1885-1887)aaC>aaT	p.N629N	BCLAF1_ENST00000530767.1_Silent_p.N456N|BCLAF1_ENST00000527536.1_Silent_p.N629N|BCLAF1_ENST00000527759.1_Silent_p.N627N|BCLAF1_ENST00000353331.4_Silent_p.N627N|BCLAF1_ENST00000392348.2_Silent_p.N627N	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	629			N -> S (in dbSNP:rs7381749).		induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		TGAACCGCTCGTTTAGGGTCA	0.393													A	136594291	G	A	136594291	2	1	454	1	0	0	0	0	0	0	0	1	1388	1136	40	1		1	BCLAF1	6	136594291	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	2804525	136594291	34520776	30	43683											
ISPD	729920	broad.mit.edu	37	chr7	16445756	16445756	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggtctcacagcatcaTggataatcactacttctggc	12	11	7	11	0	4	0	3	0	2	0	5	1	4	1	0	3	2	1	0	3	3	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:16445756T>A	ENST00000407010.2	-	2	463	c.464A>T	c.(463-465)cAt>cTt	p.H155L	ISPD_ENST00000399310.3_Missense_Mutation_p.H155L	NM_001101426.3	NP_001094896.1	A4D126	ISPD_HUMAN	isoprenoid synthase domain containing	155					isoprenoid biosynthetic process		nucleotidyltransferase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9						CACAGCATCATGGATAATCAC	0.433										Multiple Myeloma(15;0.18)			A	16445756	T	A	16445756	3	1	454	1	0	0	0	0	1	0	0	0	7922	1464	51	5	927	5	ISPD	7	16445756	Missense_Mutation	SNP	T	TCGA-E1-A7YN-01A-11D-A34A-08		16445756	142692907	31	43684											
SCRN1	9805	broad.mit.edu	37	chr7	29976211	29976211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaagtagtgaatgcacGgagagcttctattctgcggc	10	10	13	8	2	2	3	0	2	2	1	2	4	2	3	0	2	3	3	0	2	4	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:29976211G>A	ENST00000426154.1	-	6	1042	c.866C>T	c.(865-867)cCg>cTg	p.P289L	SCRN1_ENST00000416113.2_Missense_Mutation_p.P115L|SCRN1_ENST00000242059.5_Missense_Mutation_p.P289L|SCRN1_ENST00000409497.1_Missense_Mutation_p.P289L|SCRN1_ENST00000425819.2_Missense_Mutation_p.P221L|SCRN1_ENST00000434476.2_Missense_Mutation_p.P309L	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	289					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity	p.P289Q(1)|p.P309Q(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						GTGAATGCACGGAGAGCTTCT	0.522													A	29976211	G	A	29976211	3	1	454	1	0	0	0	0	1	0	0	0	14031	1116	39	1	390	1	SCRN1	7	29976211	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	13530455	29976211	129162452	32	43685											
SUMF2	25870	broad.mit.edu	37	chr7	56146102	56146102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagtggacagcatcacCgtaccaggctgctgagcagg	9	6	16	10	1	1	1	1	1	0	0	1	3	1	3	2	4	4	5	2	4	1	1	rs150538960		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:56146102C>T	ENST00000434526.2	+	8	810	c.779C>T	c.(778-780)cCg>cTg	p.P260L	SUMF2_ENST00000413756.1_Missense_Mutation_p.P241L|SUMF2_ENST00000275607.9_Missense_Mutation_p.P153L|SUMF2_ENST00000342190.6_Intron|SUMF2_ENST00000437307.2_Missense_Mutation_p.P172L|SUMF2_ENST00000395435.2_Missense_Mutation_p.P176L|SUMF2_ENST00000395436.2_Missense_Mutation_p.P245L	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	241						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			ACAGCATCACCGTACCAGGCT	0.687													T	56146102	C	T	56146102	3	4	454	1	0	0	0	0	1	0	0	0	15482	652	23	1	809	1	SUMF2	7	56146102	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	26169891	56146102	102992561	33	43686											
ABCB1	5243	broad.mit.edu	37	chr7	87183144	87183144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccataccagaaggccagaGcataagatgcatagatcagc	15	6	9	11	0	1	4	1	0	0	4	2	4	2	4	3	1	4	2	3	1	4	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:87183144G>T	ENST00000265724.3	-	10	1349	c.932C>A	c.(931-933)gCt>gAt	p.A311D	ABCB1_ENST00000543898.1_Missense_Mutation_p.A247D	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	311	ABC transmembrane type-1 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)	GAAGGCCAGAGCATAAGATGC	0.383													T	87183144	G	T	87183144	3	4	454	1	0	0	0	0	1	0	0	0	40	971	34	4	2990	4	ABCB1	7	87183144	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	31037042	87183144	71955519	34	43687											
CYP3A4	1576	broad.mit.edu	37	chr7	99367747	99367747	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatgttattttcatacctCcttgagttttccactggtga	7	18	6	10	0	2	2	2	2	0	0	4	2	4	2	3	1	1	2	3	1	2	7			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:99367747C>A	ENST00000336411.2	-	5	613	c.430G>T	c.(430-432)Gag>Tag	p.E144*	CYP3A4_ENST00000354593.2_Intron	NM_001202855.2|NM_017460.5	NP_001189784.1|NP_059488.2	P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	144					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	TTTCATACCTCCTTGAGTTTT	0.393													A	99367747	C	A	99367747	4	1	454	1	0	0	0	0	0	1	0	0	4211	864	30	4	1117	4	CYP3A4	7	99367747	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	12184603	99367747	59770916	35	43688											
LAMB1	3912	broad.mit.edu	37	chr7	107603490	107603490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtcctggatatattgccGctccactatgctaaccccct	7	11	7	16	2	0	0	0	0	0	0	2	1	2	1	6	2	3	2	6	2	4	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:107603490G>A	ENST00000393561.1	-	13	1973	c.1789C>T	c.(1789-1791)Cgg>Tgg	p.R597W	LAMB1_ENST00000393560.1_Missense_Mutation_p.R573W|LAMB1_ENST00000222399.6_Missense_Mutation_p.R573W			P07942	LAMB1_HUMAN	laminin, beta 1	573	Laminin IV type B.				axon guidance|odontogenesis|positive regulation of cell migration|positive regulation of epithelial cell proliferation|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-2 complex|laminin-8 complex|perinuclear region of cytoplasm	extracellular matrix structural constituent			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATATATTGCCGCTCCACTATG	0.448													A	107603490	G	A	107603490	3	1	454	1	0	0	0	0	1	0	0	0	8669	1086	38	1	3723	1	LAMB1	7	107603490	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	8235743	107603490	51535173	36	43689											
TRPV5	56302	broad.mit.edu	37	chr7	142606688	142606688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtcccccagcccgaattcGcacccacagatcccggagcg	8	4	10	19	5	0	1	0	0	0	1	3	3	2	2	5	2	2	1	5	2	1	1			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:142606688G>A	ENST00000265310.1	-	14	2211	c.1863C>T	c.(1861-1863)tgC>tgT	p.C621C		NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	621					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					GCCCGAATTCGCACCCACAGA	0.607													A	142606688	G	A	142606688	2	1	454	1	0	0	0	0	0	0	0	1	16700	1079	38	1		1	TRPV5	7	142606688	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	35003198	142606688	16531975	37	43690											
ZNF777	27153	broad.mit.edu	37	chr7	149152540	149152540	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctccactgcttggaCggcagcccacacagccaagc	8	7	8	18	1	1	0	0	0	1	0	3	1	2	1	4	2	4	2	4	2	1	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:149152540C>T	ENST00000247930.4	-	2	897	c.574G>A	c.(574-576)Gtc>Atc	p.V192I		NM_015694.2	NP_056509.2	Q9ULD5	ZN777_HUMAN	zinc finger protein 777	192					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(5)|lung(17)|ovary(1)|skin(2)|urinary_tract(1)	26	Melanoma(164;0.165)		OV - Ovarian serous cystadenocarcinoma(82;0.00358)			ACTGCTTGGACGGCAGCCCAC	0.587													T	149152540	C	T	149152540	3	4	454	1	0	0	0	0	1	0	0	0	18249	536	19	1	1941	1	ZNF777	7	149152540	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	6545852	149152540	9986123	38	43691											
KCNH2	3757	broad.mit.edu	37	chr7	150646032	150646032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctccagcaggtcgtccCgatggatcttgtgtaggtca	7	10	12	12	2	2	0	1	0	1	0	5	2	4	1	3	3	1	3	3	3	1	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr7:150646032C>T	ENST00000392968.2	-	8	3336	c.2216G>A	c.(2215-2217)cGg>cAg	p.R739Q	KCNH2_ENST00000330883.4_Missense_Mutation_p.R495Q|KCNH2_ENST00000262186.5_Missense_Mutation_p.R835Q			Q12809	KCNH2_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 2	835					blood circulation|muscle contraction|regulation of heart contraction|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|cervix(1)|endometrium(10)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	42	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	Amiodarone(DB01118)|Amsacrine(DB00276)|Astemizole(DB00637)|Carvedilol(DB01136)|Cisapride(DB00604)|Dofetilide(DB00204)|Halofantrine(DB01218)|Ibutilide(DB00308)|Pimozide(DB01100)|Propafenone(DB01182)|Quinidine(DB00908)|Sertindole(DB06144)|Sotalol(DB00489)|Terfenadine(DB00342)|Verapamil(DB00661)	CAGGTCGTCCCGATGGATCTT	0.567													T	150646032	C	T	150646032	3	4	454	1	0	0	0	0	1	0	0	0	8090	652	23	1	999	1	KCNH2	7	150646032	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1493492	150646032	8492631	39	43692											
NEFM	4741	broad.mit.edu	37	chr8	24771450	24771450	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggctcgcccagcaccgtGtcctcctcctataagcgcag	6	7	10	18	5	0	0	0	0	0	0	4	0	3	0	5	1	2	3	5	1	2	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:24771450G>C	ENST00000221166.5	+	1	926	c.144G>C	c.(142-144)gtG>gtC	p.V48V	NEFM_ENST00000518131.1_Silent_p.V48V|NEFM_ENST00000521540.1_3'UTR|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Silent_p.V48V			P07197	NFM_HUMAN	neurofilament, medium polypeptide	48	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CCAGCACCGTGTCCTCCTCCT	0.687													C	24771450	G	C	24771450	2	2	454	1	0	0	0	0	0	0	0	1	10392	1364	48	4		4	NEFM	8	24771450	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		24771450	121592572	40	43693											
WHSC1L1	54904	broad.mit.edu	37	chr8	38187124	38187124	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacttgtgtgccgcctctgGctatgtctccgaatttcagt	5	14	10	12	2	3	0	1	0	2	0	4	1	3	0	3	1	1	2	3	1	2	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:38187124G>A	ENST00000317025.8	-	6	1870	c.1353C>T	c.(1351-1353)agC>agT	p.S451S	WHSC1L1_ENST00000316985.3_Silent_p.S451S|WHSC1L1_ENST00000527502.1_Silent_p.S451S|WHSC1L1_ENST00000433384.2_Silent_p.S451S	NM_023034.1	NP_075447.1	Q9BZ95	NSD3_HUMAN	Wolf-Hirschhorn syndrome candidate 1-like 1	451					cell differentiation|cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome	histone-lysine N-methyltransferase activity|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	Colorectal(12;0.000442)|Esophageal squamous(3;0.0725)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.065)	Epithelial(3;3.12e-43)|all cancers(3;1.72e-38)|BRCA - Breast invasive adenocarcinoma(5;2.84e-27)|LUSC - Lung squamous cell carcinoma(2;2.79e-25)|Lung(2;5.03e-23)|COAD - Colon adenocarcinoma(9;0.0511)			GCCGCCTCTGGCTATGTCTCC	0.522			T	NUP98	AML								A	38187124	G	A	38187124	2	1	454	1	0	0	0	0	0	0	0	1	17465	1194	42	2		2	WHSC1L1	8	38187124	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	13415674	38187124	108176898	41	43694											
TRAPPC9	83696	broad.mit.edu	37	chr8	141407833	141407833	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttccaactcaatcactccCgcattcttatactgcagggt	9	12	6	14	1	3	0	2	0	1	0	5	0	5	0	2	1	3	3	2	1	4	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr8:141407833C>T	ENST00000389328.4	-	7	1328	c.1314G>A	c.(1312-1314)gcG>gcA	p.A438A	TRAPPC9_ENST00000389327.3_Silent_p.A331A|TRAPPC9_ENST00000438773.2_Silent_p.A340A	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	340					cell differentiation	endoplasmic reticulum|Golgi apparatus				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						CAATCACTCCCGCATTCTTAT	0.433													T	141407833	C	T	141407833	2	4	454	1	0	0	0	0	0	0	0	1	16566	639	23	1		1	TRAPPC9	8	141407833	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	103220709	141407833	4956189	42	43695											
TEK	7010	broad.mit.edu	37	chr9	27217702	27217702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagggaaggctcccagtgcGctggatggccatcgagtcac	8	6	14	13	2	1	0	1	0	0	0	3	3	2	2	3	4	1	2	3	4	1	0			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr9:27217702G>A	ENST00000380036.4	+	19	3450	c.3008G>A	c.(3007-3009)cGc>cAc	p.R1003H	TEK_ENST00000519097.1_Missense_Mutation_p.R855H|TEK_ENST00000406359.4_Missense_Mutation_p.R960H	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	1003	Protein kinase.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		CTCCCAGTGCGCTGGATGGCC	0.483													A	27217702	G	A	27217702	3	1	454	1	0	0	0	0	1	0	0	0	15851	1087	38	1	3082	1	TEK	9	27217702	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		27217702	113995729	43	43696											
TAF1L	138474	broad.mit.edu	37	chr9	32632119	32632119	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgctgagcctgctacCagtagcattcgccgtagttc	7	11	11	12	2	0	1	0	1	0	0	2	2	0	1	3	0	6	7	3	0	3	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr9:32632119C>T	ENST00000242310.4	-	1	3548	c.3459G>A	c.(3457-3459)ctG>ctA	p.L1153L		NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	1153					male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding			breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		AGCCTGCTACCAGTAGCATTC	0.483													T	32632119	C	T	32632119	2	4	454	1	0	0	0	0	0	0	0	1	15620	581	21	2		2	TAF1L	9	32632119	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	5414417	32632119	108581312	44	43697											
HKDC1	80201	broad.mit.edu	37	chr10	71008236	71008236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcccaagctgtgatgtccGcttcctcctgtcagagagtg	6	11	12	12	1	1	2	1	1	0	1	5	3	5	2	4	1	1	2	4	1	1	1			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr10:71008236G>A	ENST00000354624.5	+	10	1455	c.1322G>A	c.(1321-1323)cGc>cAc	p.R441H	HKDC1_ENST00000488706.1_3'UTR|HKDC1_ENST00000395086.2_Missense_Mutation_p.R441H	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	441					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						TGTGATGTCCGCTTCCTCCTG	0.597													A	71008236	G	A	71008236	3	1	454	1	0	0	0	0	1	0	0	0	7248	1087	38	1	1360	1	HKDC1	10	71008236	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		71008236	64526511	45	43698											
OR51F2	119694	broad.mit.edu	37	chr11	4842972	4842972	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagatgttctttctacaCggatttactttcatggagtc	8	15	8	10	1	3	1	1	0	2	1	4	3	3	3	1	2	2	1	1	2	2	6			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:4842972C>T	ENST00000322110.5	+	1	422	c.357C>T	c.(355-357)caC>caT	p.H119H	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TCTTTCTACACGGATTTACTT	0.468													T	4842972	C	T	4842972	2	4	454	1	0	0	0	0	0	0	0	1	11173	535	19	1		1	OR51F2	11	4842972	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		4842972	130163544	46	43699											
MUC15	143662	broad.mit.edu	37	chr11	26584679	26584679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctggttcatttctgtcGtcataaagtcgccgatggga	8	14	10	9	3	3	0	2	0	1	0	5	2	3	1	2	2	1	1	2	2	3	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:26584679G>A	ENST00000436318.2	-	3	1042	c.909C>T	c.(907-909)gaC>gaT	p.D303D	MUC15_ENST00000529533.1_Silent_p.D303D|ANO3_ENST00000537978.1_Intron|ANO3_ENST00000256737.3_Intron|MUC15_ENST00000455601.2_Silent_p.D276D|MUC15_ENST00000527569.1_Intron|ANO3_ENST00000525139.1_Intron|ANO3_ENST00000531568.1_Intron|MUC15_ENST00000281268.8_Intron|ANO3_ENST00000529242.1_3'UTR			Q8N387	MUC15_HUMAN	mucin 15, cell surface associated	276						extracellular region|integral to membrane|plasma membrane		p.D276D(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25						CATTTCTGTCGTCATAAAGTC	0.408													A	26584679	G	A	26584679	2	1	454	1	0	0	0	0	0	0	0	1	10048	1136	40	1		1	MUC15	11	26584679	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	21741707	26584679	108421837	47	43700											
OR4X2	119764	broad.mit.edu	37	chr11	48266656	48266656	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggctaacatacacaacAtgactgaattcatttttctg	12	15	5	9	0	3	2	1	2	2	0	3	2	3	2	0	1	3	1	0	1	4	6			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:48266656A>T	ENST00000302329.3	+	1	49	c.1A>T	c.(1-3)Atg>Ttg	p.M1L		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	1					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						CATACACAACATGACTGAATT	0.418													T	48266656	A	T	48266656	1	4	454	1	0	0	0	0	0	0	0	0	11161	231	8	5		5	OR4X2	11	48266656	Translation_Start_Site	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	21681977	48266656	86739860	48	43701											
MS4A6A	64231	broad.mit.edu	37	chr11	59949075	59949075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaataactttgatttctgcGtgtagatgtttcttcaggct	8	17	8	8	1	3	2	1	1	2	1	3	2	3	2	1	1	2	3	1	1	3	6	rs113133013		TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:59949075G>A	ENST00000528851.1	-	2	266	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000529054.1_Silent_p.H70H			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral to membrane	receptor activity	p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													A	59949075	G	A	59949075	2	1	454	1	0	0	0	0	0	0	0	1	9940	1136	40	1		1	MS4A6A	11	59949075	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	11682419	59949075	75057441	49	43702											
MS4A7	58475	broad.mit.edu	37	chr11	60152586	60152586	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagatcctgtgttgcctgtTgatttcaagtctgggggcca	6	13	12	10	0	2	2	1	1	1	1	3	2	3	2	4	2	1	2	4	2	1	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:60152586T>G	ENST00000300184.3	+	3	369	c.173T>G	c.(172-174)tTg>tGg	p.L58W	MS4A7_ENST00000530234.2_Missense_Mutation_p.L58W|MS4A7_ENST00000534016.1_Intron|MS4A7_ENST00000358246.1_Intron|MS4A14_ENST00000531787.1_Intron	NM_021201.4|NM_206939.1	NP_067024.1|NP_996822.1	Q9GZW8	MS4A7_HUMAN	membrane-spanning 4-domains, subfamily A, member 7	58						integral to membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(8)|ovary(1)|skin(1)	20						TGTTGCCTGTTGATTTCAAGT	0.438													G	60152586	T	G	60152586	3	3	454	1	0	0	0	0	1	0	0	0	9942	1821	63	5	179	5	MS4A7	11	60152586	Missense_Mutation	SNP	T	TCGA-E1-A7YN-01A-11D-A34A-08	203511	60152586	74853930	50	43703											
KAT5	10524	broad.mit.edu	37	chr11	65486590	65486590	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctcaagcggctcctgCggatcgactccaagtgtctg	7	9	11	14	3	2	0	1	0	1	0	5	2	4	1	3	2	3	2	3	2	2	0			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:65486590C>T	ENST00000341318.4	+	13	1813	c.1579C>T	c.(1579-1581)Cgg>Tgg	p.R527W	RNASEH2C_ENST00000308418.4_3'UTR|KAT5_ENST00000352980.4_Missense_Mutation_p.R442W|KAT5_ENST00000530446.1_Missense_Mutation_p.R475W|KAT5_ENST00000377046.3_Missense_Mutation_p.R494W|KAT5_ENST00000534650.1_Missense_Mutation_p.R283W	NM_182710.2	NP_874369.1	Q92993	KAT5_HUMAN	K(lysine) acetyltransferase 5	494					androgen receptor signaling pathway|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|double-strand break repair|interspecies interaction between organisms|negative regulation of interleukin-2 production|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of growth|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nucleolus|perinuclear region of cytoplasm|Piccolo NuA4 histone acetyltransferase complex	androgen receptor binding|histone acetyltransferase activity|metal ion binding|repressing transcription factor binding|transcription coactivator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)	21						GCGGCTCCTGCGGATCGACTC	0.607													T	65486590	C	T	65486590	3	4	454	1	0	0	0	0	1	0	0	0	8041	759	27	1	1629	1	KAT5	11	65486590	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	5334004	65486590	69519926	51	43704											
CATSPER1	117144	broad.mit.edu	37	chr11	65788325	65788325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagggaccagtcatccagCgtgagcaaggtgaagagggt	12	6	16	7	1	1	4	1	3	0	1	2	5	2	5	2	3	2	1	2	3	2	0			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:65788325C>T	ENST00000312106.5	-	6	2021	c.1884G>A	c.(1882-1884)acG>acA	p.T628T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	628					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						AGTCATCCAGCGTGAGCAAGG	0.637													T	65788325	C	T	65788325	2	4	454	1	0	0	0	0	0	0	0	1	2713	755	27	1		1	CATSPER1	11	65788325	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	301735	65788325	69218191	52	43705											
DYNC2H1	79659	broad.mit.edu	37	chr11	103116061	103116061	+	Frame_Shift_Del	DEL	C	C	-																															aagagatggatggtgtagaaCctgttctttatccattattg																										TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:103116061delC	ENST00000375735.2	+	65	10144	c.10000delC	c.(10000-10002)cctfs	p.P3334fs	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Frame_Shift_Del_p.P3341fs	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	3334	AAA 5 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TGGTGTAGAACCTGTTCTTTA	0.313													-	103116061	C	-	103116061	7	5	454	1	0	1	0	1	0	0	0	0	4885	507	18	0	10283	0	DYNC2H1	11	103116061	Frame_Shift_Del	DEL	C	TCGA-E1-A7YN-01A-11D-A34A-08	37327736	103116061	31890455	53	43706											
DDI1	414301	broad.mit.edu	37	chr11	103908727	103908727	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagtcatggattcaggaCgaaaagagcattaaagcacg	16	8	10	7	2	3	1	3	0	0	1	3	4	3	3	0	2	2	2	0	2	4	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr11:103908727C>T	ENST00000302259.3	+	1	1420	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	PDGFD_ENST00000302251.5_Intron|PDGFD_ENST00000393158.2_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	393					proteolysis		aspartic-type endopeptidase activity	p.R393*(2)		central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		GGATTCAGGACGAAAAGAGCA	0.428													T	103908727	C	T	103908727	4	4	454	1	0	0	0	0	0	1	0	0	4362	528	19	1	1179	1	DDI1	11	103908727	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	792666	103908727	31097789	54	43707											
ANO2	57101	broad.mit.edu	37	chr12	5708776	5708776	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctcatctttcagctttcGaaatagtttctttagcttcc	7	18	6	10	1	4	0	2	0	3	0	7	1	5	0	1	1	2	3	1	1	3	7			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:5708776G>A	ENST00000546188.1	-	21	2181	c.2110C>T	c.(2110-2112)Cga>Tga	p.R704*	ANO2_ENST00000327087.8_Nonsense_Mutation_p.R703*|ANO2_ENST00000356134.5_Nonsense_Mutation_p.R704*			Q9NQ90	ANO2_HUMAN	anoctamin 2	708						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity	p.R704*(1)		central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						TTCAGCTTTCGAAATAGTTTC	0.428													A	5708776	G	A	5708776	4	1	454	1	0	0	0	0	0	1	0	0	697	1066	37	1	913	1	ANO2	12	5708776	Nonsense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		5708776	128143119	55	43708											
A2M	2	broad.mit.edu	37	chr12	9248214	9248214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaatatagacattatgaCgattgatgcagtcttcattg	13	15	7	6	1	2	3	1	2	1	1	2	4	2	3	0	0	1	1	0	0	4	7			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:9248214C>T	ENST00000318602.7	-	16	2241	c.1934G>A	c.(1933-1935)cGt>cAt	p.R645H		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	645					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GACATTATGACGATTGATGCA	0.398													T	9248214	C	T	9248214	3	4	454	1	0	0	0	0	1	0	0	0	4	536	19	1	2574	1	A2M	12	9248214	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	3539438	9248214	124603681	56	43709											
CLEC2B	9976	broad.mit.edu	37	chr12	10005934	10005934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcaaatccattttctttCggtgtaacatctagctgttg	8	16	7	10	1	2	0	0	0	2	0	4	0	3	0	2	1	3	4	2	1	3	6			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:10005934C>T	ENST00000228438.2	-	5	1348	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	CLEC2B_ENST00000538152.1_Missense_Mutation_p.E70K	NM_005127.2	NP_005118.2	Q92478	CLC2B_HUMAN	C-type lectin domain family 2, member B	139	C-type lectin.					integral to plasma membrane	sugar binding			endometrium(1)|large_intestine(3)|lung(1)	5						CATTTTCTTTCGGTGTAACAT	0.383													T	10005934	C	T	10005934	3	4	454	1	0	0	0	0	1	0	0	0	3538	893	31	1	38	1	CLEC2B	12	10005934	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	757720	10005934	123845961	57	43710											
SLCO1B1	10599	broad.mit.edu	37	chr12	21355502	21355502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaattcaaactgaacaccGttggaattgccaaattctca	17	10	5	9	1	2	1	2	1	1	0	3	2	2	2	2	1	3	1	2	1	6	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:21355502G>A	ENST00000256958.2	+	10	1309	c.1213G>A	c.(1213-1215)Gtt>Att	p.V405I		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	405					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	ACTGAACACCGTTGGAATTGC	0.313													A	21355502	G	A	21355502	3	1	454	1	0	0	0	0	1	0	0	0	14817	1145	40	1	1247	1	SLCO1B1	12	21355502	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	11349568	21355502	112496393	58	43711											
MYO1A	4640	broad.mit.edu	37	chr12	57422571	57422571	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctccaagcaatgactccCcttttttttgtagcgtagct	8	14	6	13	1	0	1	0	1	0	0	2	1	2	1	4	0	3	4	4	0	4	6			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr12:57422571C>A	ENST00000442789.2	-	29	3387	c.3100G>T	c.(3100-3102)Ggg>Tgg	p.G1034W	MYO1A_ENST00000544473.1_Missense_Mutation_p.G872W|TAC3_ENST00000415231.1_5'UTR|MYO1A_ENST00000300119.3_Missense_Mutation_p.G1034W	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	1034					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CAATGACTCCCCTTTTTTTTG	0.562													A	57422571	C	A	57422571	3	1	454	1	0	0	0	0	1	0	0	0	10144	623	22	4	35	4	MYO1A	12	57422571	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	36067069	57422571	76429324	59	43712											
FGF14	2259	broad.mit.edu	37	chr13	102375254	102375254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgtgcttttacttggcGtcaccccaggcttcgggacc	5	12	10	14	2	1	0	1	0	0	0	2	1	1	1	3	3	2	2	3	3	1	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr13:102375254G>A	ENST00000376131.4	-	5	781	c.686C>T	c.(685-687)aCg>aTg	p.T229M	ITGBL1_ENST00000415285.1_3'UTR|FGF14_ENST00000376143.4_Missense_Mutation_p.T224M	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	224					cell death|cell-cell signaling|JNK cascade|nervous system development|signal transduction	nucleus	growth factor activity|heparin binding	p.T224M(1)|p.T229M(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTTACTTGGCGTCACCCCAGG	0.473													A	102375254	G	A	102375254	3	1	454	1	0	0	0	0	1	0	0	0	5892	1145	40	1	76	1	FGF14	13	102375254	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		102375254	12794624	60	43713											
SPTBN5	51332	broad.mit.edu	37	chr15	42166142	42166142	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctcctggcactgctccacGatgtgttgggcttgggggtg	4	11	16	10	1	0	0	0	0	0	0	2	1	2	0	2	4	2	5	2	4	0	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:42166142G>A	ENST00000320955.6	-	25	5018	c.4791C>T	c.(4789-4791)atC>atT	p.I1597I		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1597					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		ACTGCTCCACGATGTGTTGGG	0.647													A	42166142	G	A	42166142	2	1	454	1	0	0	0	0	0	0	0	1	15218	1048	37	1		1	SPTBN5	15	42166142	Silent	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		42166142	60365250	61	43714											
SPESP1	246777	broad.mit.edu	37	chr15	69238119	69238119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctagttacacatggagaCgcttcaactgagaatgatgt	13	10	11	7	1	1	3	1	2	0	2	1	6	1	3	0	1	3	3	0	1	4	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:69238119C>T	ENST00000310673.3	+	2	400	c.246C>T	c.(244-246)gaC>gaT	p.D82D	RP11-809H16.2_ENST00000557966.1_RNA|SPESP1_ENST00000560188.1_3'UTR|NOX5_ENST00000448182.3_Intron|NOX5_ENST00000455873.3_Intron|NOX5_ENST00000260364.5_Intron	NM_145658.3	NP_663633.1	Q6UW49	SPESP_HUMAN	sperm equatorial segment protein 1	82					multicellular organismal development	acrosomal vesicle				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	19						CACATGGAGACGCTTCAACTG	0.393													T	69238119	C	T	69238119	2	4	454	1	0	0	0	0	0	0	0	1	15136	535	19	1		1	SPESP1	15	69238119	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	27071977	69238119	33293273	62	43715											
ISLR2	57611	broad.mit.edu	37	chr15	74425299	74425299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcactgtgctgcggcgCggggccttcgccgacgtcac	6	7	14	14	6	2	1	2	0	0	1	3	2	2	1	2	3	2	1	2	3	1	1			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:74425299C>T	ENST00000361742.3	+	4	973	c.204C>T	c.(202-204)cgC>cgT	p.R68R	ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565159.1_Silent_p.R68R|ISLR2_ENST00000435464.1_Silent_p.R68R|ISLR2_ENST00000445793.1_Silent_p.R68R|ISLR2_ENST00000453268.2_Silent_p.R68R|ISLR2_ENST00000419208.1_Silent_p.R68R|ISLR2_ENST00000565540.1_Silent_p.R68R	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	68					positive regulation of axon extension	cell surface|integral to membrane|plasma membrane				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TGCTGCGGCGCGGGGCCTTCG	0.642													T	74425299	C	T	74425299	2	4	454	1	0	0	0	0	0	0	0	1	7917	755	27	1		1	ISLR2	15	74425299	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	5187180	74425299	28106093	63	43716											
FES	2242	broad.mit.edu	37	chr15	91436545	91436545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgacttcctgaccttcctccGcacggagggggcccgcctgc	4	7	12	18	4	0	1	0	1	0	0	3	3	3	2	6	3	1	1	6	3	0	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr15:91436545G>A	ENST00000328850.3	+	16	2088	c.1946G>A	c.(1945-1947)cGc>cAc	p.R649H	FES_ENST00000450438.2_Missense_Mutation_p.R521H|FES_ENST00000414248.2_Missense_Mutation_p.R521H|FES_ENST00000444422.2_Missense_Mutation_p.R579H|FES_ENST00000394300.3_Missense_Mutation_p.R591H|FES_ENST00000394302.1_Missense_Mutation_p.R508H	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	649	Protein kinase.				axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			ACCTTCCTCCGCACGGAGGGG	0.672													A	91436545	G	A	91436545	3	1	454	1	0	0	0	0	1	0	0	0	5869	1087	38	1	2004	1	FES	15	91436545	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	17011246	91436545	11094847	64	43717											
ABCC1	4363	broad.mit.edu	37	chr16	16162084	16162084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggatgcccagacagccttCgtgtctttggccttgttcaa	6	13	10	12	1	2	1	1	0	1	1	3	2	2	2	3	2	2	1	3	2	1	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:16162084C>T	ENST00000399408.2	+	13	1924	c.1749C>T	c.(1747-1749)ttC>ttT	p.F583F	ABCC1_ENST00000346370.5_Silent_p.F583F|ABCC1_ENST00000351154.5_Silent_p.F583F|ABCC1_ENST00000349029.5_Silent_p.F583F|ABCC1_ENST00000399410.3_Silent_p.F583F|ABCC1_ENST00000345148.5_Silent_p.F583F			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	583	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	AGACAGCCTTCGTGTCTTTGG	0.562													T	16162084	C	T	16162084	2	4	454	1	0	0	0	0	0	0	0	1	49	883	31	1		1	ABCC1	16	16162084	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		16162084	74192669	65	43718											
ABCC11	85320	broad.mit.edu	37	chr16	48256601	48256601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcggaacctgatggctgtgcGttggttgatgatccaactgg	7	12	14	8	2	0	3	0	3	0	0	2	4	1	4	2	4	3	3	2	4	2	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:48256601G>A	ENST00000394747.1	-	5	1034	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ABCC11_ENST00000537808.1_Missense_Mutation_p.R229C|ABCC11_ENST00000394748.1_Missense_Mutation_p.R229C|ABCC11_ENST00000356608.2_Missense_Mutation_p.R229C|ABCC11_ENST00000353782.5_Missense_Mutation_p.R229C	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	229	ABC transmembrane type-1 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				ATGGCTGTGCGTTGGTTGATG	0.483													A	48256601	G	A	48256601	3	1	454	1	0	0	0	0	1	0	0	0	51	1145	40	1	3563	1	ABCC11	16	48256601	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	32094517	48256601	42098152	66	43719											
ANKRD11	29123	broad.mit.edu	37	chr16	89348857	89348857	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttctctttcttggctcGctctcggtcgtggctcttct	0	17	10	14	3	5	0	0	0	5	0	9	0	5	0	1	4	0	3	1	4	0	4			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr16:89348857G>A	ENST00000301030.4	-	9	4553	c.4093C>T	c.(4093-4095)Cga>Tga	p.R1365*	ANKRD11_ENST00000378330.2_Nonsense_Mutation_p.R1365*	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1365	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTCTTGGCTCGCTCTCGGTCG	0.562													A	89348857	G	A	89348857	4	1	454	1	0	0	0	0	0	1	0	0	639	1095	38	1	3918	1	ANKRD11	16	89348857	Nonsense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08	41092256	89348857	1005896	67	43720											
PITPNM3	83394	broad.mit.edu	37	chr17	6380417	6380417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagtcgctctgtttccgCggcaacggcctcttgggctc	4	10	14	13	4	2	0	0	0	2	0	5	2	3	1	2	4	1	4	2	4	1	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:6380417C>T	ENST00000262483.8	-	9	1104	c.1017G>A	c.(1015-1017)ccG>ccA	p.P339P	PITPNM3_ENST00000421306.3_Silent_p.P303P	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TCTGTTTCCGCGGCAACGGCC	0.582													T	6380417	C	T	6380417	2	4	454	1	0	0	0	0	0	0	0	1	12029	755	27	1		1	PITPNM3	17	6380417	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		6380417	74814793	68	43721											
DNAH2	146754	broad.mit.edu	37	chr17	7646393	7646393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaaggattgcattcggCggttggataccccattgctg	8	11	13	9	2	0	0	0	0	0	0	1	3	0	3	2	5	3	3	2	5	2	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:7646393C>T	ENST00000572933.1	+	12	3297	c.1837C>T	c.(1837-1839)Cgg>Tgg	p.R613W	DNAH2_ENST00000389173.2_Missense_Mutation_p.R613W|DNAH2_ENST00000082259.3_Missense_Mutation_p.R695W|DNAH2_ENST00000570791.1_Missense_Mutation_p.R695W			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	613	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCATTCGGCGGTTGGATAC	0.527													T	7646393	C	T	7646393	3	4	454	1	0	0	0	0	1	0	0	0	4641	759	27	1	1879	1	DNAH2	17	7646393	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1265976	7646393	73548817	69	43722											
GAS7	8522	broad.mit.edu	37	chr17	9837515	9837515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgaggtgaacttctgcttCgtccgccaggctcttcttca	5	14	9	13	2	4	2	1	2	3	0	6	2	5	2	2	2	2	2	2	2	1	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:9837515C>T	ENST00000323816.4	-	10	835	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	GAS7_ENST00000585266.1_Missense_Mutation_p.E225K|GAS7_ENST00000580865.1_Missense_Mutation_p.E145K|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000437099.2_Missense_Mutation_p.E221K|GAS7_ENST00000579158.1_Missense_Mutation_p.E221K|GAS7_ENST00000432992.2_Missense_Mutation_p.E285K|GAS7_ENST00000542249.1_Missense_Mutation_p.E221K|GAS7_ENST00000540214.1_Intron			O60861	GAS7_HUMAN	growth arrest-specific 7	289	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						ACTTCTGCTTCGTCCGCCAGG	0.537			T	MLL	AML*								T	9837515	C	T	9837515	3	4	454	1	0	0	0	0	1	0	0	0	6304	893	31	1	601	1	GAS7	17	9837515	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2191122	9837515	71357695	70	43723											
DNAH9	1770	broad.mit.edu	37	chr17	11573026	11573026	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggatgaaaattgatattCgaccctttaaggcatctctg	11	13	9	8	1	1	2	0	2	1	0	3	4	1	3	1	2	0	2	1	2	4	5			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:11573026C>T	ENST00000262442.4	+	17	3336	c.3268C>T	c.(3268-3270)Cga>Tga	p.R1090*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R1090*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AATTGATATTCGACCCTTTAA	0.443													T	11573026	C	T	11573026	4	4	454	1	0	0	0	0	0	1	0	0	4647	876	31	1	3334	1	DNAH9	17	11573026	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1735511	11573026	69622184	71	43724											
OTOP2	92736	broad.mit.edu	37	chr17	72926410	72926410	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcggaggagactcctgccTctgcagcacggccgtctgcc	5	7	14	15	3	2	1	0	0	2	1	4	3	3	2	4	4	4	2	4	4	0	0			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr17:72926410T>A	ENST00000331427.4	+	6	772	c.680T>A	c.(679-681)cTc>cAc	p.L227H	OTOP2_ENST00000580223.1_Missense_Mutation_p.L227H	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	227						integral to membrane				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					GACTCCTGCCTCTGCAGCACG	0.577													A	72926410	T	A	72926410	3	1	454	1	0	0	0	0	1	0	0	0	11382	1551	54	5	698	5	OTOP2	17	72926410	Missense_Mutation	SNP	T	TCGA-E1-A7YN-01A-11D-A34A-08	61353384	72926410	8268800	72	43725											
DSG1	1828	broad.mit.edu	37	chr18	28913648	28913648	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcaacattaaaatcctcGatgtcaatgataatatccct	15	12	5	9	1	1	1	1	1	0	0	4	2	3	1	2	0	2	1	2	0	6	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr18:28913648G>A	ENST00000257192.4	+	7	993	c.781G>A	c.(781-783)Gat>Aat	p.D261N		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	261	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TAAAATCCTCGATGTCAATGA	0.398													A	28913648	G	A	28913648	3	1	454	1	0	0	0	0	1	0	0	0	4815	1058	37	1	807	1	DSG1	18	28913648	Missense_Mutation	SNP	G	TCGA-E1-A7YN-01A-11D-A34A-08		28913648	49163600	73	43726											
ZNF285	26974	broad.mit.edu	37	chr19	44891689	44891689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgtatcatctgcaaaggCcaccccacagttattacatg	12	11	6	12	0	3	0	1	0	2	0	3	0	3	0	3	1	2	3	3	1	4	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:44891689C>T	ENST00000330997.4	-	4	782	c.718G>A	c.(718-720)Gcc>Acc	p.A240T	ZNF285_ENST00000544719.2_Missense_Mutation_p.A240T|ZNF285_ENST00000591679.1_Missense_Mutation_p.A247T|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TCTGCAAAGGCCACCCCACAG	0.433													T	44891689	C	T	44891689	3	4	454	1	0	0	0	0	1	0	0	0	17923	739	26	2	1058	2	ZNF285	19	44891689	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		44891689	14237294	74	43727											
PPM1N	147699	broad.mit.edu	37	chr19	46002331	46002331	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcagcacagaggaccacCggccccttcgaccccgggaa	9	4	10	18	3	1	1	1	0	0	1	2	4	1	3	7	3	1	1	7	3	1	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:46002331C>A	ENST00000324688.4	+	1	467	c.367C>A	c.(367-369)Cgg>Agg	p.R123R	PPM1N_ENST00000401705.1_Intron|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000456399.2_Intron|PPM1N_ENST00000451287.2_Silent_p.R201R			Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	201	PP2C-like.						magnesium ion binding|manganese ion binding|phosphoprotein phosphatase activity			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						AGAGGACCACCGGCCCCTTCG	0.736													A	46002331	C	A	46002331	2	1	454	1	0	0	0	0	0	0	0	1	12428	643	23	4		4	PPM1N	19	46002331	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1110642	46002331	13126652	75	43728											
CRX	1406	broad.mit.edu	37	chr19	48339541	48339541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcgcaccaccttcaccCggagccaactggaggagctg	9	4	14	14	2	1	0	1	0	0	0	1	4	1	4	4	4	4	2	4	4	1	1			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:48339541C>T	ENST00000221996.7	+	3	348	c.142C>T	c.(142-144)Cgg>Tgg	p.R48W	TPRX2P_ENST00000535362.1_Intron|CRX_ENST00000539067.1_Missense_Mutation_p.R48W	NM_000554.4	NP_000545.1	O43186	CRX_HUMAN	cone-rod homeobox	48					organ morphogenesis|response to stimulus|visual perception		leucine zipper domain binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|urinary_tract(1)	23		all_cancers(25;2.76e-09)|all_epithelial(76;7.01e-07)|all_lung(116;2.48e-06)|Lung NSC(112;5.15e-06)|Ovarian(192;0.0139)|all_neural(266;0.0146)|Breast(70;0.133)		OV - Ovarian serous cystadenocarcinoma(262;0.000266)|all cancers(93;0.000788)|Epithelial(262;0.0226)|GBM - Glioblastoma multiforme(486;0.0521)		CACCTTCACCCGGAGCCAACT	0.632													T	48339541	C	T	48339541	3	4	454	1	0	0	0	0	1	0	0	0	3933	643	23	1	148	1	CRX	19	48339541	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2337210	48339541	10789442	76	43729											
ZNF473	25888	broad.mit.edu	37	chr19	50548736	50548736	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagatccacactcggaaaCgctatgagtgttccaagtgc	13	8	10	10	2	0	3	0	1	0	2	3	4	2	4	2	1	2	2	2	1	4	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr19:50548736C>T	ENST00000595661.1	+	6	1531	c.1036C>T	c.(1036-1038)Cgc>Tgc	p.R346C	ZNF473_ENST00000391821.2_Missense_Mutation_p.R346C|ZNF473_ENST00000270617.3_Missense_Mutation_p.R346C|CTD-2126E3.3_ENST00000599410.1_RNA|ZNF473_ENST00000601364.1_Intron|ZNF473_ENST00000445728.3_Missense_Mutation_p.R334C|CTD-2126E3.3_ENST00000599914.1_RNA			Q8WTR7	ZN473_HUMAN	zinc finger protein 473	346	Interaction with SLBP/pre-mRNA complex.				histone mRNA 3'-end processing|regulation of transcription, DNA-dependent|termination of RNA polymerase II transcription	Cajal body	DNA binding|protein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37		all_neural(266;0.0459)|Ovarian(192;0.0728)		GBM - Glioblastoma multiforme(134;0.00111)|OV - Ovarian serous cystadenocarcinoma(262;0.0058)		CACTCGGAAACGCTATGAGTG	0.478													T	50548736	C	T	50548736	3	4	454	1	0	0	0	0	1	0	0	0	18032	536	19	1	1050	1	ZNF473	19	50548736	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	2209195	50548736	8580247	77	43730											
XKR7	343702	broad.mit.edu	37	chr20	30585186	30585186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcactggagtactcctcaCctgccacgccccggttgcag	6	8	11	16	2	1	0	1	0	0	0	2	1	2	1	5	3	3	4	5	3	1	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr20:30585186C>T	ENST00000562532.2	+	3	1840	c.1666C>T	c.(1666-1668)Cct>Tct	p.P556S		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GTACTCCTCACCTGCCACGCC	0.587													T	30585186	C	T	30585186	3	4	454	1	0	0	0	0	1	0	0	0	17538	507	18	2	1676	2	XKR7	20	30585186	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		30585186	32440334	78	43731											
FAM83D	81610	broad.mit.edu	37	chr20	37555323	37555325	+	In_Frame_Del	DEL	GCG	GCG	-																															agaggccgggagaggagggcGcggcggcggcggcggcggcc																										TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chr20:37555323_37555325delGCG	ENST00000217429.4	+	1	369_371	c.328_330delGCG	c.(328-330)gcgdel	p.A116del		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	86					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				AGAGGAGGGCgcggcggcggcgg	0.719													-	37555325	GCG	-	37555323	7	5	454	1	0	1	0	1	0	0	0	0	5686	1087	38	0	330	0	FAM83D	20	37555323	In_Frame_Del	DEL	GCG	TCGA-E1-A7YN-01A-11D-A34A-08	6970137	37555323	25470197	79	43732											
ZXDB	158586	broad.mit.edu	37	chrX	57619831	57619831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgcggagtcacaccggCgagagacctttcctttgtga	8	9	11	13	3	1	2	1	1	0	1	2	5	2	3	4	2	1	0	4	2	0	2			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:57619831C>T	ENST00000374888.1	+	1	1563	c.1350C>T	c.(1348-1350)ggC>ggT	p.G450G		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	450	Required for interaction with ZXDC (By similarity).				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						GTCACACCGGCGAGAGACCTT	0.483													T	57619831	C	T	57619831	2	4	454	1	0	0	0	0	0	0	0	1	18348	755	27	1		1	ZXDB	23	57619831	Silent	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08		57619831	97650729	80	43733											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984675	104984675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatgccagtgttttgctgCgtaaaaagggtatttatttt	11	16	9	5	1	0	0	0	0	0	0	0	0	0	0	1	1	4	4	1	1	6	8			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:104984675C>T	ENST00000372582.1	+	8	1795	c.1039C>T	c.(1039-1041)Cgt>Tgt	p.R347C	IL1RAPL2_ENST00000485671.1_3'UTR|IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.R347C	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	347	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity	p.R347C(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGTTTTGCTGCGTAAAAAGGG	0.368													T	104984675	C	T	104984675	3	4	454	1	0	0	0	0	1	0	0	0	7720	768	27	1	1065	1	IL1RAPL2	23	104984675	Missense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	47364844	104984675	50285885	81	43734											
DCX	1641	broad.mit.edu	37	chrX	110644519	110644519	+	Frame_Shift_Del	DEL	T	T	-																															cattcttggtgtactccaccTttttaaagaagttgtctgag																										TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:110644519delT	ENST00000338081.3	-	3	818	c.647delA	c.(646-648)aagfs	p.K216fs	DCX_ENST00000371993.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000356915.2_Frame_Shift_Del_p.K135fs|DCX_ENST00000488120.1_Frame_Shift_Del_p.K135fs|DCX_ENST00000356220.3_Frame_Shift_Del_p.K135fs|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	216	Doublecortin 1.				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						GTACTCCACCTTTTTAAAGAA	0.403													-	110644519	T	-	110644519	7	5	454	1	0	1	0	1	0	0	0	0	4352	1609	56	0	713	0	DCX	23	110644519	Frame_Shift_Del	DEL	T	TCGA-E1-A7YN-01A-11D-A34A-08	5659844	110644519	44626041	82	43735											
PNMA3	29944	broad.mit.edu	37	chrX	152226591	152226591	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagaggccaacaccgAaggggtggtgtggcaagggc	10	3	20	8	1	0	1	0	0	0	1	0	2	0	1	2	8	1	2	2	8	3	0			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:152226591A>T	ENST00000447306.1	+	2	1515	c.1179A>T	c.(1177-1179)cgA>cgT	p.R393R	PNMA3_ENST00000370264.4_Silent_p.R393R|PNMA3_ENST00000370265.4_Silent_p.R393R	NM_013364.4	NP_037496.4	Q9UL41	PNMA3_HUMAN	paraneoplastic Ma antigen 3	393	Arg-rich.				apoptosis	nucleolus	nucleic acid binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	16	Acute lymphoblastic leukemia(192;6.56e-05)					GCCAACACCGAAGGGGTGGTG	0.607													T	152226591	A	T	152226591	2	4	454	1	0	0	0	0	0	0	0	1	12232	233	9	5		5	PNMA3	23	152226591	Silent	SNP	A	TCGA-E1-A7YN-01A-11D-A34A-08	41582072	152226591	3043969	83	43736											
OPN1LW	5956	broad.mit.edu	37	chrX	153421855	153421855	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggtgatgatctttgcgtaCtgcgtctgctggggacccta	5	13	14	9	2	2	2	0	2	2	0	2	3	2	3	1	3	4	2	1	3	2	3			TCGA-E1-A7YN-01A-11D-A34A-08	TCGA-E1-A7YN-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcb1831c-3b62-45ce-8750-31fa7f3ebe7f	7a87f52e-8414-45c7-befa-a0acc48b6fbc	g.chrX:153421855C>G	ENST00000369951.4	+	5	891	c.831C>G	c.(829-831)taC>taG	p.Y277*	OPN1LW_ENST00000463296.1_3'UTR	NM_020061.4	NP_064445.2	P04000	OPSR_HUMAN	opsin 1 (cone pigments), long-wave-sensitive	277					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	15	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTTGCGTACTGCGTCTGCT	0.567													G	153421855	C	G	153421855	4	3	454	1	0	0	0	0	0	1	0	0	10953	576	20	4	849	4	OPN1LW	23	153421855	Nonsense_Mutation	SNP	C	TCGA-E1-A7YN-01A-11D-A34A-08	1195264	153421855	1848705	84	43737											
CLSPN	63967	broad.mit.edu	37	chr1	36230093	36230093	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaagattttcctgatacAaagacttttccatgtaactt	12	16	4	9	0	1	3	1	1	0	2	3	3	3	3	2	0	2	1	2	0	4	8			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:36230093A>G	ENST00000251195.5	-	3	452	c.356T>C	c.(355-357)tTg>tCg	p.L119S	CLSPN_ENST00000520551.1_Missense_Mutation_p.L119S|CLSPN_ENST00000373220.3_Missense_Mutation_p.L119S|CLSPN_ENST00000318121.3_Missense_Mutation_p.L119S			Q9HAW4	CLSPN_HUMAN	claspin	119					activation of protein kinase activity|cell cycle|cellular component disassembly involved in apoptosis|DNA repair|DNA replication|G2/M transition DNA damage checkpoint|mitotic cell cycle DNA replication checkpoint|peptidyl-serine phosphorylation	nucleoplasm	anaphase-promoting complex binding|DNA binding			NS(2)|breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TTCCTGATACAAAGACTTTTC	0.363													G	36230093	A	G	36230093	3	3	455	1	0	0	0	0	1	0	0	0	3591	131	5	3	3755	3	CLSPN	1	36230093	Missense_Mutation	SNP	A	TCGA-E1-A7YO-01A-11D-A34A-08		36230093	213020528	1	43738											
FUBP1	8880	broad.mit.edu	37	chr1	78430654	78430654	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attttaactccagcccgttcCtgttacaatcatagaaataa	14	13	4	10	1	1	1	1	0	0	1	3	1	3	1	3	0	3	2	3	0	6	6			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:78430654C>T	ENST00000370767.1	-	9	724		c.e9-1		FUBP1_ENST00000370768.2_Splice_Site|FUBP1_ENST00000436586.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGCCCGTTCCTGTTACAATC	0.368			"F, N"		oligodendroglioma								T	78430654	C	T	78430654	5	4	455	1	0	0	0	0	0	0	1	0	6144	695	24	2	1346	2	FUBP1	1	78430654	Splice_Site	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	42200561	78430654	170819967	2	43739											
TCHHL1	126637	broad.mit.edu	37	chr1	152059508	152059508	+	Frame_Shift_Del	DEL	T	T	-																															tctctgtgggactgctggtcTtttttgatcctgccattggc																										TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:152059508delT	ENST00000368806.1	-	3	714	c.650delA	c.(649-651)aagfs	p.K217fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	217							calcium ion binding	p.K217M(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTGCTGGTCTTTTTTGATCC	0.448													-	152059508	T	-	152059508	7	5	455	1	0	1	0	1	0	0	0	0	15801	1609	56	0	2068	0	TCHHL1	1	152059508	Frame_Shift_Del	DEL	T	TCGA-E1-A7YO-01A-11D-A34A-08	73628854	152059508	97191113	3	43740											
CENPL	91687	broad.mit.edu	37	chr1	173776588	173776588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctataggagaatttatataaGggagttaaactatataaagt	18	13	8	2	0	0	1	0	0	0	1	0	3	0	2	0	2	1	1	0	2	12	10			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:173776588G>A	ENST00000356198.2	-	4	522	c.237C>T	c.(235-237)ccC>ccT	p.P79P	CENPL_ENST00000367710.3_Silent_p.P79P|CENPL_ENST00000345664.6_Silent_p.P79P	NM_001127181.2	NP_001120653.1	Q8N0S6	CENPL_HUMAN	centromere protein L	79					mitotic prometaphase	chromosome, centromeric region|cytosol|nucleus				breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(3)	11						ATTTATATAAGGGAGTTAAAC	0.333													A	173776588	G	A	173776588	2	1	455	1	0	0	0	0	0	0	0	1	3266	987	35	2		2	CENPL	1	173776588	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	21717080	173776588	75474033	4	43741											
ASTN1	460	broad.mit.edu	37	chr1	176853605	176853605	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagagtgctgctgggctcGtgaaccgtggagagtctcag	9	8	15	9	2	1	3	1	1	1	2	3	4	1	3	1	2	3	3	1	2	2	0	rs144434019		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:176853605G>A	ENST00000367654.3	-	19	3331	c.3120C>T	c.(3118-3120)caC>caT	p.H1040H	ASTN1_ENST00000424564.2_Silent_p.H1032H|ASTN1_ENST00000367657.3_Silent_p.H1032H|ASTN1_ENST00000361833.2_Silent_p.H1032H	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1		Fibronectin type-III 1.				cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGCTGGGCTCGTGAACCGTGG	0.522													A	176853605	G	A	176853605	2	1	455	1	0	0	0	0	0	0	0	1	1069	1136	40	1		1	ASTN1	1	176853605	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	3077017	176853605	72397016	5	43742											
CEP350	9857	broad.mit.edu	37	chr1	179959716	179959716	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattctgtcatggataccaaGaagtcttctacaagtgctac	12	12	8	9	0	4	1	1	0	3	1	4	3	4	2	1	1	4	1	1	1	6	5			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:179959716G>C	ENST00000367607.3	+	4	613	c.195G>C	c.(193-195)aaG>aaC	p.K65N		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	65						centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						TGGATACCAAGAAGTCTTCTA	0.313													C	179959716	G	C	179959716	3	2	455	1	0	0	0	0	1	0	0	0	3284	933	33	4	205	4	CEP350	1	179959716	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	3106111	179959716	69290905	6	43743											
KIF26B	55083	broad.mit.edu	37	chr1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagattctggaacaccGccagcagaggatcgccgagg	11	5	14	11	3	1	3	0	1	1	2	2	6	1	5	3	3	2	2	3	3	2	1			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr1:245862232G>A	ENST00000366518.4	+	11	5032	c.4928G>A	c.(4927-4929)cGc>cAc	p.R1643H	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													A	245862232	G	A	245862232	3	1	455	1	0	0	0	0	1	0	0	0	8353	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	65902516	245862232	3388389	7	43744											
LTBP1	4052	broad.mit.edu	37	chr2	33477781	33477781	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggaagagaaagggccctgTtaccgacttgtcagttctgg	9	10	13	9	2	2	1	1	0	1	1	3	4	2	2	2	3	1	2	2	3	3	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:33477781T>C	ENST00000404816.2	+	11	2390	c.2037T>C	c.(2035-2037)tgT>tgC	p.C679C	LTBP1_ENST00000407925.1_Silent_p.C353C|LTBP1_ENST00000354476.3_Silent_p.C679C|LTBP1_ENST00000404525.1_Silent_p.C353C|LTBP1_ENST00000418533.2_Silent_p.C353C|LTBP1_ENST00000402934.1_Silent_p.C353C|LTBP1_ENST00000390003.4_Silent_p.C353C			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	679	TB 2.				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				AAGGGCCCTGTTACCGACTTG	0.512													C	33477781	T	C	33477781	2	2	455	1	0	0	0	0	0	0	0	1	9143	1731	60	3		3	LTBP1	2	33477781	Silent	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08		33477781	209721592	8	43745											
ARL6IP6	151188	broad.mit.edu	37	chr2	153575515	153575515	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttctcgccttcctcctcgCcatcgcctacttgatcgtta	4	15	5	17	4	2	1	0	1	2	0	8	1	4	1	5	0	1	1	5	0	2	5			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:153575515C>G	ENST00000326446.5	+	1	1088	c.377C>G	c.(376-378)gCc>gGc	p.A126G		NM_152522.5	NP_689735.1	Q8N6S5	AR6P6_HUMAN	ADP-ribosylation-like factor 6 interacting protein 6	126						integral to membrane				kidney(1)|large_intestine(1)|lung(2)|pancreas(1)	5						TTCCTCCTCGCCATCGCCTAC	0.602													G	153575515	C	G	153575515	3	3	455	1	0	0	0	0	1	0	0	0	950	739	26	4	379	4	ARL6IP6	2	153575515	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	120097734	153575515	89623858	9	43746											
TTN	7273	broad.mit.edu	37	chr2	179456193	179456193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctttaccacaagacCttcaattaatttcacatcta	13	13	2	13	0	3	1	2	0	1	1	4	1	4	1	4	0	2	0	4	0	5	6			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:179456193C>T	ENST00000589042.1	-	304	60483	c.60259G>A	c.(60259-60261)Ggt>Agt	p.G20087S	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G11214S|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G18446S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G11147S|TTN_ENST00000460472.2_Missense_Mutation_p.G11022S|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G17519S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18446	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCACAAGACCTTCAATTAAT	0.378													T	179456193	C	T	179456193	3	4	455	1	0	0	0	0	1	0	0	0	16837	681	24	2	47956	2	TTN	2	179456193	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	25880678	179456193	63743180	10	43747											
ANKAR	150709	broad.mit.edu	37	chr2	190554618	190554618	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagttaatatgttttctgAttccatttctactgagttta	11	20	5	5	0	2	2	0	2	2	0	3	2	3	2	1	0	1	3	1	0	6	10			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:190554618A>T	ENST00000520309.1	+	3	1055	c.967A>T	c.(967-969)Att>Ttt	p.I323F	ANKAR_ENST00000438402.2_Missense_Mutation_p.I323F|ANKAR_ENST00000281412.6_Missense_Mutation_p.I87F|ANKAR_ENST00000313581.4_Missense_Mutation_p.I323F|ANKAR_ENST00000461516.1_3'UTR|ANKAR_ENST00000431575.2_Missense_Mutation_p.I252F	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	323						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			ATGTTTTCTGATTCCATTTCT	0.284													T	190554618	A	T	190554618	3	4	455	1	0	0	0	0	1	0	0	0	623	333	12	5	973	5	ANKAR	2	190554618	Missense_Mutation	SNP	A	TCGA-E1-A7YO-01A-11D-A34A-08	11098425	190554618	52644755	11	43748											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	455	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	18558494	209113112	34086261	12	43749											
D2HGDH	728294	broad.mit.edu	37	chr2	242684241	242684241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctttggggatcatcaccacgGtgtccatcttgtgtccaccc	6	12	9	14	1	3	0	2	0	1	0	5	1	5	1	4	3	0	0	4	3	0	2			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr2:242684241G>A	ENST00000321264.4	+	6	1011	c.802G>A	c.(802-804)Gtg>Atg	p.V268M	D2HGDH_ENST00000342518.6_Missense_Mutation_p.V268M|D2HGDH_ENST00000403782.1_Missense_Mutation_p.V134M|D2HGDH_ENST00000537090.1_Missense_Mutation_p.V268M	NM_152783.3	NP_689996.4	Q8N465	D2HDH_HUMAN	D-2-hydroxyglutarate dehydrogenase	268	FAD-binding PCMH-type.				2-oxoglutarate metabolic process|cellular protein metabolic process|response to cobalt ion|response to manganese ion|response to zinc ion	mitochondrial matrix	(R)-2-hydroxyglutarate dehydrogenase activity|flavin adenine dinucleotide binding|protein binding			breast(1)|endometrium(3)|lung(10)|skin(1)|urinary_tract(1)	16		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;4.59e-33)|all cancers(36;9.89e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.89e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0833)		CATCACCACGGTGTCCATCTT	0.597													A	242684241	G	A	242684241	3	1	455	1	0	0	0	0	1	0	0	0	4247	1261	44	2	820	2	D2HGDH	2	242684241	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	33571129	242684241	515132	13	43750											
NEK10	152110	broad.mit.edu	37	chr3	27204221	27204221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttgatcctgttcctccaGtgaagtccctgaaaatagaa	11	12	8	10	0	1	4	0	3	1	1	5	4	5	4	4	0	0	1	4	0	5	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr3:27204221G>A	ENST00000429845.2	-	31	3202	c.2840C>T	c.(2839-2841)aCt>aTt	p.T947I	NEK10_ENST00000498182.1_5'UTR|NEK10_ENST00000383770.3_Missense_Mutation_p.T259I|NEK10_ENST00000357467.2_Missense_Mutation_p.T344I|NEK10_ENST00000383771.4_Missense_Mutation_p.T259I|NEK10_ENST00000295720.6_Missense_Mutation_p.T259I			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	947							ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						TGTTCCTCCAGTGAAGTCCCT	0.353													A	27204221	G	A	27204221	3	1	455	1	0	0	0	0	1	0	0	0	10398	1044	36	2		2	NEK10	3	27204221	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		27204221	170818209	14	43751											
ZNF131	7690	broad.mit.edu	37	chr5	43161369	43161369	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacaaagaaaactcagcTcccttagaggaaaataccac	19	5	7	10	0	1	2	1	0	0	2	2	4	2	4	2	2	4	1	2	2	8	2			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr5:43161369T>C	ENST00000509634.1	+	4	846	c.390T>C	c.(388-390)gcT>gcC	p.A130A	ZNF131_ENST00000509156.1_Silent_p.A130A|ZNF131_ENST00000306938.4_Silent_p.A130A|ZNF131_ENST00000399534.1_Silent_p.A130A|ZNF131_ENST00000509931.1_Intron|ZNF131_ENST00000505606.2_Silent_p.A130A			P52739	ZN131_HUMAN	zinc finger protein 131	130						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	17						AAAACTCAGCTCCCTTAGAGG	0.358													C	43161369	T	C	43161369	2	2	455	1	0	0	0	0	0	0	0	1	17822	1538	54	3		3	ZNF131	5	43161369	Silent	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08		43161369	137753891	15	43752											
RREB1	6239	broad.mit.edu	37	chr6	7229727	7229727	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctctggcgagtcggccatCgagctggcagacatccagca	9	7	12	13	3	1	1	0	0	1	1	5	3	2	1	2	3	2	3	2	3	0	0	rs138539147		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr6:7229727C>T	ENST00000379938.2	+	10	1932	c.1395C>T	c.(1393-1395)atC>atT	p.I465I	RREB1_ENST00000349384.6_Silent_p.I465I|RREB1_ENST00000379933.3_Silent_p.I465I|RREB1_ENST00000334984.6_Silent_p.I465I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	465					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTCGGCCATCGAGCTGGCAG	0.602													T	7229727	C	T	7229727	2	4	455	1	0	0	0	0	0	0	0	1	13770	874	31	1		1	RREB1	6	7229727	Silent	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		7229727	163885340	16	43753											
TRPV5	56302	broad.mit.edu	37	chr7	142626594	142626594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcagagacactggccctgCgggtgagcagggcacgcacc	8	4	16	13	2	0	2	0	1	0	1	0	3	0	2	2	4	2	4	2	4	0	0			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr7:142626594C>T	ENST00000265310.1	-	4	764	c.416G>A	c.(415-417)cGc>cAc	p.R139H	TRPV5_ENST00000442623.1_Missense_Mutation_p.R139H	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	139					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACTGGCCCTGCGGGTGAGCAG	0.602													T	142626594	C	T	142626594	3	4	455	1	0	0	0	0	1	0	0	0	16700	768	27	1	1821	1	TRPV5	7	142626594	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		142626594	16512069	17	43754											
INSL4	3641	broad.mit.edu	37	chr9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatggccagcctgttcCggtcctatctgccagcaatc	7	9	10	15	1	1	0	0	0	1	0	4	1	3	1	6	3	3	2	6	3	2	2	rs142741438	byFrequency	TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542													T	5231539	C	T	5231539	3	4	455	1	0	0	0	0	1	0	0	0	7826	643	23	1	18	1	INSL4	9	5231539	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		5231539	135981892	18	43755											
APBA1	320	broad.mit.edu	37	chr9	72131193	72131193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctgcagcccggggctgtCggggcgacccccggccgggg	2	3	19	17	6	0	0	0	0	0	0	1	1	0	0	5	7	2	2	5	7	0	0			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:72131193C>T	ENST00000265381.4	-	2	1156	c.934G>A	c.(934-936)Gac>Aac	p.D312N		NM_001163.3	NP_001154.2	Q02410	APBA1_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 1	312	Munc-18-1 binding.|Pro-rich.				axon cargo transport|cell adhesion|intracellular protein transport|nervous system development|protein complex assembly|synaptic transmission	synaptic vesicle				endometrium(4)|kidney(2)|large_intestine(12)|lung(13)|prostate(3)|skin(3)	37						ccggggctgtcggggcgaccc	0.766													T	72131193	C	T	72131193	3	4	455	1	0	0	0	0	1	0	0	0	758	884	31	1	1627	1	APBA1	9	72131193	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	66899654	72131193	69082238	19	43756											
C9orf114	51490	broad.mit.edu	37	chr9	131588889	131588889	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcttcccaactcctgTgaattccccctccacagtcc	6	11	3	21	0	1	1	0	1	1	0	6	1	6	1	8	0	1	0	8	0	2	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr9:131588889T>G	ENST00000361256.5	-	5	428	c.388A>C	c.(388-390)Aca>Cca	p.T130P		NM_016390.3	NP_057474.2	Q5T280	CI114_HUMAN	chromosome 9 open reading frame 114	130			T -> R (in dbSNP:rs6478854).							kidney(2)|large_intestine(4)|ovary(1)	7						CCAACTCCTGTGAATTCCCCC	0.592													G	131588889	T	G	131588889	3	3	455	1	0	0	0	0	1	0	0	0	2475	1696	59	5	774	5	C9orf114	9	131588889	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	59457696	131588889	9624542	20	43757											
C10orf54	64115	broad.mit.edu	37	chr10	73521533	73521533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcgctgagccaggtcGtggctggtgttggcagcctg	3	9	18	11	3	0	1	0	1	0	0	1	1	0	1	3	5	2	4	3	5	0	1			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr10:73521533G>A	ENST00000394957.3	-	2	391	c.333C>T	c.(331-333)caC>caT	p.H111H	C10orf54_ENST00000481568.2_5'UTR|CDH23_ENST00000224721.6_Intron	NM_022153.1	NP_071436.1	Q9H7M9	GI24_HUMAN	chromosome 10 open reading frame 54	111	Ig-like.					integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	9						GAGCCAGGTCGTGGCTGGTGT	0.652													A	73521533	G	A	73521533	2	1	455	1	0	0	0	0	0	0	0	1	1618	1136	40	1		1	C10orf54	10	73521533	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		73521533	62013214	21	43758											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118387360	118387360	+	RNA	DEL	G	G	-																															gcggaggcgggcaggaggctGgggggccgcgtgggcaggat																										TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr10:118387360delG	ENST00000537242.1	+	0	578				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GCAGGAGGCTGGGGGGCCGCG	0.736													-	118387360	G	-	118387360	6	5	455	0	1	1	0	1	0	0	0	0	12228	1335	47	0		0	PNLIPRP2	10	118387360	RNA	DEL	G	TCGA-E1-A7YO-01A-11D-A34A-08	44865827	118387360	17147387	22	43759											
MMP12	4321	broad.mit.edu	37	chr11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-																															tttcagctgatacgtaaaagCaaacaaacaaacaaacaaac																								rs28360358		TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TACGTAAaagcaaacaaacaaaca	0.324													-	102745473	CAAA	-	102745470	6	5	455	0	1	1	0	1	0	0	0	0	9726	725	25	0		0	MMP12	11	102745470	RNA	DEL	CAAA	TCGA-E1-A7YO-01A-11D-A34A-08		102745470	32261046	23	43760											
TMEM45B	120224	broad.mit.edu	37	chr11	129725675	129725675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactcactcctgctgtatgCtctgttcggagggtgtgtta	5	14	11	11	1	2	0	1	0	1	0	4	1	3	1	2	2	2	5	2	2	2	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr11:129725675C>T	ENST00000281441.3	+	4	546	c.458C>T	c.(457-459)gCt>gTt	p.A153V	TMEM45B_ENST00000524567.1_Missense_Mutation_p.A153V	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	153						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		CTGCTGTATGCTCTGTTCGGA	0.537													T	129725675	C	T	129725675	3	4	455	1	0	0	0	0	1	0	0	0	16270	797	28	2	468	2	TMEM45B	11	129725675	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	26980205	129725675	5280841	24	43761											
ZCRB1	85437	broad.mit.edu	37	chr12	42711593	42711593	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagatgaatagcttacctgtTtgttgtttattgccctggta	8	17	10	6	0	0	2	0	1	0	1	0	3	0	2	2	1	3	5	2	1	5	8			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:42711593T>G	ENST00000266529.3	-	4	404	c.221A>C	c.(220-222)aAa>aCa	p.K74T	PPHLN1_ENST00000549190.1_Intron|ZCRB1_ENST00000552673.1_Missense_Mutation_p.K33T	NM_033114.3	NP_149105.3	Q8TBF4	ZCRB1_HUMAN	zinc finger CCHC-type and RNA binding motif 1	74	RRM.				mRNA processing	nucleoplasm|U12-type spliceosomal complex	nucleotide binding|RNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|skin(2)	8	all_cancers(12;0.000348)|Breast(8;0.221)	Lung NSC(34;0.123)		GBM - Glioblastoma multiforme(48;0.0689)		GCTTACCTGTTTGTTGTTTAT	0.388													G	42711593	T	G	42711593	3	3	455	1	0	0	0	0	1	0	0	0	17697	1841	64	5	452	5	ZCRB1	12	42711593	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08		42711593	91140302	25	43762											
SLC38A1	81539	broad.mit.edu	37	chr12	46602870	46602870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagatcaataggaggtttaTtgaatatatagacagcaatg	17	11	9	4	0	1	3	1	1	0	2	1	4	1	4	0	2	1	2	0	2	8	7			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:46602870T>C	ENST00000398637.5	-	6	1049	c.355A>G	c.(355-357)Ata>Gta	p.I119V	SLC38A1_ENST00000549049.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000439706.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000552197.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000546893.1_Missense_Mutation_p.I119V|SLC38A1_ENST00000549633.1_5'UTR	NM_001077484.1|NM_001278387.1|NM_001278388.1|NM_001278389.1|NM_030674.3	NP_001070952.1|NP_001265316.1|NP_001265317.1|NP_001265318.1|NP_109599.3	Q9H2H9	S38A1_HUMAN	solute carrier family 38, member 1	119					cellular nitrogen compound metabolic process|neurotransmitter uptake	integral to membrane|plasma membrane	sodium:amino acid symporter activity			NS(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(2)	23	Lung SC(27;0.137)|Renal(347;0.236)		all cancers(1;0.00805)|OV - Ovarian serous cystadenocarcinoma(5;0.0106)|Epithelial(2;0.0344)			AGGAGGTTTATTGAATATATA	0.313													C	46602870	T	C	46602870	3	2	455	1	0	0	0	0	1	0	0	0	14695	1493	52	3	1156	3	SLC38A1	12	46602870	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	3891277	46602870	87249025	26	43763											
AVPR1A	552	broad.mit.edu	37	chr12	63543965	63543965	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccgcccgtcatccaggTcacgtaggcacgagaacccc	9	5	11	16	4	2	1	2	0	0	1	3	3	3	1	5	2	2	2	5	2	2	1			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr12:63543965T>C	ENST00000299178.2	-	1	757	c.652A>G	c.(652-654)Acc>Gcc	p.T218A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	218					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	GTCATCCAGGTCACGTAGGCA	0.592													C	63543965	T	C	63543965	3	2	455	1	0	0	0	0	1	0	0	0	1236	1667	58	3	612	3	AVPR1A	12	63543965	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	16941095	63543965	70307930	27	43764											
PRMT5	10419	broad.mit.edu	37	chr14	23393534	23393534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctttatccgccggtcggCctgcttggctgcccgcaggg	3	9	14	15	4	0	0	0	0	0	0	2	0	1	0	4	4	3	4	4	4	1	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr14:23393534C>T	ENST00000324366.8	-	11	1367	c.1144G>A	c.(1144-1146)Gcc>Acc	p.A382T	PRMT5_ENST00000397441.2_Missense_Mutation_p.A365T|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.A321T|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.A276T|PRMT5_ENST00000553897.1_Missense_Mutation_p.A338T|PRMT5_ENST00000397440.4_Missense_Mutation_p.A211T	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	382					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		CGCCGGTCGGCCTGCTTGGCT	0.557													T	23393534	C	T	23393534	3	4	455	1	0	0	0	0	1	0	0	0	12625	739	26	2	797	2	PRMT5	14	23393534	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		23393534	83956006	28	43765											
NKX2-1	7080	broad.mit.edu	37	chr14	36987036	36987036	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgctcgcgctccggcGccgacaggtacttctgttgc	4	9	13	15	5	1	0	0	0	1	0	3	1	2	0	3	3	3	4	3	3	1	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr14:36987036G>A	ENST00000518149.1	-	3	1168	c.563C>T	c.(562-564)gCg>gTg	p.A188V	NKX2-1_ENST00000498187.2_Missense_Mutation_p.A188V|NKX2-1_ENST00000522719.2_Missense_Mutation_p.A188V|RP11-896J10.3_ENST00000521945.1_RNA|NKX2-1_ENST00000354822.5_Missense_Mutation_p.A218V			P43699	NKX21_HUMAN	NK2 homeobox 1	188					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)		GCGCTCCGGCGCCGACAGGTA	0.647			A		NSCLC								A	36987036	G	A	36987036	3	1	455	1	0	0	0	0	1	0	0	0	10525	1087	38	1	556	1	NKX2-1	14	36987036	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	13593502	36987036	70362504	29	43766											
LTK	4058	broad.mit.edu	37	chr15	41801323	41801323	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcagtctctgaagcgtcGccccctggaagtggagagtg	7	10	14	10	2	2	2	1	1	1	1	4	4	2	3	2	2	1	0	2	2	2	1			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr15:41801323G>A	ENST00000263800.6	-	8	1098	c.1002C>T	c.(1000-1002)ggC>ggT	p.G334G	LTK_ENST00000453182.2_Silent_p.G273G|LTK_ENST00000561619.1_Silent_p.G16G|LTK_ENST00000355166.5_Silent_p.G273G	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	334					apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		CTGAAGCGTCGCCCCCTGGAA	0.557										TSP Lung(18;0.14)			A	41801323	G	A	41801323	2	1	455	1	0	0	0	0	0	0	0	1	9150	1074	38	1		1	LTK	15	41801323	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		41801323	60730069	30	43767											
CYP11A1	1583	broad.mit.edu	37	chr15	74630911	74630911	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtccccagcttgactcaCattgatgaggaagatggtca	11	10	11	9	0	2	4	2	3	0	1	3	6	3	5	2	2	1	1	2	2	1	2			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr15:74630911C>T	ENST00000358632.4	-	8	1656		c.e8+1		CYP11A1_ENST00000268053.6_Splice_Site|CYP11A1_ENST00000419019.2_Splice_Site	NM_001099773.1	NP_001093243.1	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1						C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	GCTTGACTCACATTGATGAGG	0.572													T	74630911	C	T	74630911	5	4	455	1	0	0	0	0	0	0	1	0	4177	492	17	2	138	2	CYP11A1	15	74630911	Splice_Site	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	32829588	74630911	27900481	31	43768											
ATP2A1	487	broad.mit.edu	37	chr16	28900194	28900194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtaagaagcttgccctccGtagagaccctgggctgcacc	8	9	11	13	1	0	2	0	0	0	2	1	3	1	2	4	1	3	5	4	1	3	4			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr16:28900194G>A	ENST00000395503.4	+	9	1199	c.1015G>A	c.(1015-1017)Gta>Ata	p.V339I	ATP2A1_ENST00000536376.1_Missense_Mutation_p.V214I|ATP2A1_ENST00000357084.3_Missense_Mutation_p.V339I	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	339					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						CTTGCCCTCCGTAGAGACCCT	0.587													A	28900194	G	A	28900194	3	1	455	1	0	0	0	0	1	0	0	0	1141	1145	40	1	1049	1	ATP2A1	16	28900194	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		28900194	61454559	32	43769											
LRRC37A3	374819	broad.mit.edu	37	chr17	62892257	62892257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctgggtcggagaagattcGacctccctagaagactcaga	11	8	12	10	2	1	5	1	0	0	5	4	7	2	5	2	2	1	1	2	2	3	2			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr17:62892257G>A	ENST00000584306.1	-	3	1649	c.1119C>T	c.(1117-1119)gtC>gtT	p.V373V	RP11-927P21.1_ENST00000584959.1_RNA|LRRC37A3_ENST00000400877.3_Intron|RP11-927P21.1_ENST00000577938.1_RNA|LRRC37A3_ENST00000339474.5_Intron|RP11-927P21.1_ENST00000584131.1_RNA|LRRC37A3_ENST00000319651.5_Silent_p.V373V	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	373						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GAGAAGATTCGACCTCCCTAG	0.522													A	62892257	G	A	62892257	2	1	455	1	0	0	0	0	0	0	0	1	9063	1045	37	1		1	LRRC37A3	17	62892257	Silent	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		62892257	18302953	33	43770											
ABCA7	10347	broad.mit.edu	37	chr19	1049302	1049302	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccggcctgagtcctggCgtctccgttcgcagcctgga	3	8	13	17	5	1	1	0	1	1	0	4	2	2	2	6	3	1	2	6	3	0	1			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:1049302C>T	ENST00000263094.6	+	18	2649	c.2418C>T	c.(2416-2418)ggC>ggT	p.G806G	ABCA7_ENST00000433129.1_Silent_p.G806G|ABCA7_ENST00000435683.2_Silent_p.G668G	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	806					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGAGTCCTGGCGTCTCCGTTC	0.667													T	1049302	C	T	1049302	2	4	455	1	0	0	0	0	0	0	0	1	37	755	27	1		1	ABCA7	19	1049302	Silent	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		1049302	58079681	34	43771											
DOCK6	57572	broad.mit.edu	37	chr19	11311002	11311002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctgaggccgggtggggtgGgtgccatcagctggggcagg	5	6	21	9	1	1	1	1	1	0	0	1	1	1	1	3	8	2	2	3	8	0	0			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:11311002G>A	ENST00000294618.7	-	47	6094	c.6083C>T	c.(6082-6084)cCc>cTc	p.P2028L	DOCK6_ENST00000319867.7_Missense_Mutation_p.P1367L|DOCK6_ENST00000586702.1_5'UTR	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	2028					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGTGGGGTGGGTGCCATCAG	0.652													A	11311002	G	A	11311002	3	1	455	1	0	0	0	0	1	0	0	0	4730	1232	43	2	68	2	DOCK6	19	11311002	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	10261700	11311002	47817981	35	43772											
DNASE2	1777	broad.mit.edu	37	chr19	12991928	12991928	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctctctgcgccgcctccCcggaccctctaagagctggc	4	7	10	20	3	2	1	0	0	2	1	4	2	3	2	6	2	2	1	6	2	1	1			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:12991928C>G	ENST00000222219.3	-	2	217	c.125G>C	c.(124-126)gGg>gCg	p.G42A	CTD-2265O21.7_ENST00000592400.1_RNA|DNASE2_ENST00000538460.1_Missense_Mutation_p.G42A	NM_001375.2	NP_001366.1	O00115	DNS2A_HUMAN	deoxyribonuclease II, lysosomal	42					apoptosis	lysosome	deoxyribonuclease II activity|DNA binding|protein binding			breast(1)|large_intestine(1)|lung(4)|ovary(1)	7						CGCCGCCTCCCCGGACCCTCT	0.637													G	12991928	C	G	12991928	3	3	455	1	0	0	0	0	1	0	0	0	4703	623	22	4	977	4	DNASE2	19	12991928	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	1680926	12991928	46137055	36	43773											
CIC	23152	broad.mit.edu	37	chr19	42794819	42794820	+	Frame_Shift_Ins	INS	-	-	C																															tcctgcagacactggtgctgINScccccaaacaaggaggagca																										TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:42794819_42794820insC	ENST00000572681.2	+	11	4694_4695	c.4626_4627insC	c.(4627-4629)cccfs	p.P1543fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.P634fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P634fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	634	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACTGGTGCTGCCCCCAAACAA	0.688			"Mis, F, S"		oligodendroglioma								C	42794820	-	C	42794819	7	5	455	1	0	1	1	0	0	0	0	0	3454	1306	46	0	1937	0	CIC	19	42794819	Frame_Shift_Ins	INS	-	TCGA-E1-A7YO-01A-11D-A34A-08	29802891	42794819	16334164	37	43774											
PSG9	5678	broad.mit.edu	37	chr19	43763054	43763054	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcggaggccaccatatcGgtcccgtatttcacattgat	9	11	9	12	3	1	1	1	1	0	0	3	2	2	2	3	3	1	1	3	3	2	4			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:43763054G>A	ENST00000418820.2	-	3	762	c.664C>T	c.(664-666)Cga>Tga	p.R222*	PSG9_ENST00000270077.3_Nonsense_Mutation_p.R315*|PSG9_ENST00000593948.1_Intron|PSG9_ENST00000244293.7_Intron|PSG9_ENST00000443718.3_Nonsense_Mutation_p.R222*|PSG9_ENST00000291752.5_Intron|PSG9_ENST00000596730.1_Intron			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	222	Ig-like C2-type 1.				female pregnancy	extracellular region				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCACCATATCGGTCCCGTATT	0.498													A	43763054	G	A	43763054	4	1	455	1	0	0	0	0	0	1	0	0	12747	1124	39	1	349	1	PSG9	19	43763054	Nonsense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08	968235	43763054	15365929	38	43775											
ARHGAP35	2909	broad.mit.edu	37	chr19	47422168	47422168	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctctactggggagaagTtagccgctccctggaggatt	7	12	12	10	1	1	1	0	0	1	1	3	4	2	3	2	4	2	2	2	4	3	4			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr19:47422168T>G	ENST00000404338.3	+	1	236	c.236T>G	c.(235-237)gTt>gGt	p.V79G		NM_004491.4	NP_004482.4	Q9NRY4	RHG35_HUMAN	Rho GTPase activating protein 35	79					axon guidance|negative regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol	DNA binding|Rho GTPase activator activity|transcription corepressor activity										TGGGGAGAAGTTAGCCGCTCC	0.493													G	47422168	T	G	47422168	3	3	455	1	0	0	0	0	1	0	0	0	6850	1725	60	5	238	5	ARHGAP35	19	47422168	Missense_Mutation	SNP	T	TCGA-E1-A7YO-01A-11D-A34A-08	3659114	47422168	11706815	39	43776											
APOBEC3B	9582	broad.mit.edu	37	chr22	39382395	39382395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaattatgcattcctgcacCgcacgctaaaggagattctc	13	10	7	11	2	1	1	0	0	1	1	3	2	2	1	2	1	2	4	2	1	5	4			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chr22:39382395C>T	ENST00000402182.3	+	4	602	c.547C>T	c.(547-549)Cgc>Tgc	p.R183C	APOBEC3B_ENST00000407298.3_Missense_Mutation_p.R183C|APOBEC3B_ENST00000333467.3_Missense_Mutation_p.R183C			Q9UH17	ABC3B_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3B	183					negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|RNA binding|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	13	Melanoma(58;0.04)					ATTCCTGCACCGCACGCTAAA	0.498													T	39382395	C	T	39382395	3	4	455	1	0	0	0	0	1	0	0	0	793	652	23	1	561	1	APOBEC3B	22	39382395	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08		39382395	11922171	40	43777											
SMC1A	8243	broad.mit.edu	37	chrX	53432803	53432803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccgagtccacaataatgGcatccatgttcttgcccaaa	11	11	6	13	1	2	0	0	0	2	0	5	1	4	0	4	1	1	2	4	1	3	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chrX:53432803G>A	ENST00000322213.4	-	10	1758	c.1631C>T	c.(1630-1632)gCc>gTc	p.A544V	SMC1A_ENST00000375340.6_Missense_Mutation_p.A310V	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	544	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACAATAATGGCATCCATGTT	0.502													A	53432803	G	A	53432803	3	1	455	1	0	0	0	0	1	0	0	0	14875	1203	42	2	2134	2	SMC1A	23	53432803	Missense_Mutation	SNP	G	TCGA-E1-A7YO-01A-11D-A34A-08		53432803	101837757	41	43778											
ATP1B4	23439	broad.mit.edu	37	chrX	119496054	119496054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aactccggtccagaagggctCcatcctttccttacagttat	9	12	7	13	1	0	1	0	0	0	1	5	1	5	1	5	2	2	2	5	2	4	3			TCGA-E1-A7YO-01A-11D-A34A-08	TCGA-E1-A7YO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f873874-9d78-4712-a6e6-c2c13e15016c	4093478e-c54d-4591-8b4a-61929343c9c5	g.chrX:119496054C>T	ENST00000218008.3	+	1	88	c.31C>T	c.(31-33)Cca>Tca	p.P11S	ATP1B4_ENST00000539306.1_Missense_Mutation_p.P11S|ATP1B4_ENST00000361319.3_Missense_Mutation_p.P11S	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	11					ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						CAGAAGGGCTCCATCCTTTCC	0.542													T	119496054	C	T	119496054	3	4	455	1	0	0	0	0	1	0	0	0	1140	855	30	2	33	2	ATP1B4	23	119496054	Missense_Mutation	SNP	C	TCGA-E1-A7YO-01A-11D-A34A-08	66063251	119496054	35774506	42	43779											
COL16A1	1307	broad.mit.edu	37	chr1	32157245	32157245	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatctctcctggccggcccTgtggggggataagggggagg	6	7	19	9	1	1	1	0	0	1	1	3	3	2	3	3	8	0	0	3	8	1	1			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:32157245T>G	ENST00000373672.3	-	18	1774		c.e18-2		COL16A1_ENST00000373668.3_Splice_Site|COL16A1_ENST00000271069.6_Splice_Site	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		TGGCCGGCCCTGTGGGGGGAT	0.652													G	32157245	T	G	32157245	5	3	456	1	0	0	0	0	0	0	1	0	3704	1594	55	5	3774	5	COL16A1	1	32157245	Splice_Site	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08		32157245	217093376	1	43780											
KIFAP3	22920	broad.mit.edu	37	chr1	169985738	169985738	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacaaggtatcattttcaCcagtttttcaacaatatcca	13	14	3	11	0	4	0	4	0	0	0	5	0	5	0	2	1	1	2	2	1	5	6			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:169985738C>G	ENST00000367765.1	-	10	2429	c.928G>C	c.(928-930)Gtg>Ctg	p.V310L	KIFAP3_ENST00000361580.2_Missense_Mutation_p.V350L|KIFAP3_ENST00000367767.1_Missense_Mutation_p.V306L|KIFAP3_ENST00000538366.1_Missense_Mutation_p.V272L|KIFAP3_ENST00000540905.1_Missense_Mutation_p.V52L	NM_001204517.1	NP_001191446.1	Q92845	KIFA3_HUMAN	kinesin-associated protein 3	350					blood coagulation|plus-end-directed vesicle transport along microtubule|protein complex assembly|signal transduction	centrosome|condensed nuclear chromosome|cytosol|endoplasmic reticulum|kinesin II complex|spindle microtubule	kinesin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|prostate(2)|skin(3)|urinary_tract(2)	35	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					ATCATTTTCACCAGTTTTTCA	0.328													G	169985738	C	G	169985738	3	3	456	1	0	0	0	0	1	0	0	0	8369	507	18	4	1374	4	KIFAP3	1	169985738	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	137828493	169985738	79264883	2	43781											
C4BPA	722	broad.mit.edu	37	chr1	207297295	207297295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taattggctcaaccactagtCgttgtgaagtccaagataga	13	11	9	8	1	1	3	1	1	0	2	3	3	2	3	2	1	1	2	2	1	6	5			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:207297295C>T	ENST00000367070.3	+	5	651	c.457C>T	c.(457-459)Cgt>Tgt	p.R153C		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	153	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						AACCACTAGTCGTTGTGAAGT	0.363													T	207297295	C	T	207297295	3	4	456	1	0	0	0	0	1	0	0	0	2271	884	31	1	471	1	C4BPA	1	207297295	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	37311557	207297295	41953326	3	43782											
KIF26B	55083	broad.mit.edu	37	chr1	245849237	245849237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gataaggaagataatgggtcCgaaggtcagctgaccaacag	15	6	13	7	1	1	2	1	1	0	1	2	5	2	3	2	3	2	1	2	3	5	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr1:245849237C>T	ENST00000366518.4	+	9	1913	c.1809C>T	c.(1807-1809)tcC>tcT	p.S603S	KIF26B_ENST00000407071.2_Silent_p.S984S			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	984	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.S984S(2)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ATAATGGGTCCGAAGGTCAGC	0.622													T	245849237	C	T	245849237	2	4	456	1	0	0	0	0	0	0	0	1	8353	639	23	1		1	KIF26B	1	245849237	Silent	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	38551942	245849237	3401384	4	43783											
BUB1	699	broad.mit.edu	37	chr2	111415208	111415208	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgactccccaagccccagAtgaccttacattttctgcaa	11	11	5	14	0	1	3	0	2	1	1	2	3	2	3	5	0	3	1	5	0	3	4			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr2:111415208A>T	ENST00000535254.1	-	13	1538	c.1471T>A	c.(1471-1473)Tct>Act	p.S491T	BUB1_ENST00000302759.6_Missense_Mutation_p.S511T|BUB1_ENST00000409311.1_Missense_Mutation_p.S511T	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	511					apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		CAAGCCCCAGATGACCTTACA	0.303													T	111415208	A	T	111415208	3	4	456	1	0	0	0	0	1	0	0	0	1580	333	12	5	1774	5	BUB1	2	111415208	Missense_Mutation	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08		111415208	131784165	5	43784											
SCN9A	6335	broad.mit.edu	37	chr2	167056037	167056037	+	Frame_Shift_Del	DEL	T	T	-																															ttactgttaagaataggtgcTagcaatccatcccagccagc																										TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr2:167056037delT	ENST00000303354.6	-	27	5455	c.5115delA	c.(5113-5115)ctafs	p.L1705fs	SCN9A_ENST00000409435.1_Frame_Shift_Del_p.L1704fs|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Frame_Shift_Del_p.L1693fs|SCN9A_ENST00000375387.4_Frame_Shift_Del_p.L1705fs			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1704						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	GAATAGGTGCTAGCAATCCAT	0.423													-	167056037	T	-	167056037	7	5	456	1	0	1	0	1	0	0	0	0	14018	1509	53	0	858	0	SCN9A	2	167056037	Frame_Shift_Del	DEL	T	TCGA-E1-A7YQ-01A-11D-A34J-08	55640829	167056037	76143336	6	43785											
PBRM1	55193	broad.mit.edu	37	chr3	52610666	52610666	+	Frame_Shift_Del	DEL	G	G	-																															tcttctgggtgaatgaagatGgggccataaaaatatgcagc																										TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr3:52610666delG	ENST00000356770.4	-	21	3488	c.3486delC	c.(3484-3486)cccfs	p.P1162fs	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.P1209fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.P1194fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.P1169fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.P1194fs			Q86U86	PB1_HUMAN	polybromo 1	1194	BAH 2.				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		GAATGAAGATGGGGCCATAAA	0.368			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52610666	G	-	52610666	7	5	456	1	0	1	0	1	0	0	0	0	11567	1335	47	0	1354	0	PBRM1	3	52610666	Frame_Shift_Del	DEL	G	TCGA-E1-A7YQ-01A-11D-A34J-08		52610666	145411764	7	43786											
HEG1	57493	broad.mit.edu	37	chr3	124748221	124748221	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcccagaggtctgaaccAtcacgccctctttggaggac	8	10	9	14	1	4	2	1	1	3	1	5	4	5	4	3	3	1	0	3	3	1	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr3:124748221A>G	ENST00000311127.4	-	2	495	c.428T>C	c.(427-429)aTg>aCg	p.M143T		NM_020733.1	NP_065784.1	Q9ULI3	HEG1_HUMAN	heart development protein with EGF-like domains 1	143						extracellular region|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(24)|ovary(2)|urinary_tract(4)	47						GGTCTGAACCATCACGCCCTC	0.488													G	124748221	A	G	124748221	3	3	456	1	0	0	0	0	1	0	0	0	7099	217	8	3	3781	3	HEG1	3	124748221	Missense_Mutation	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	72137555	124748221	73274209	8	43787											
EGF	1950	broad.mit.edu	37	chr4	110932547	110932547	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccccattctctcctatCagctaacccattatggcaac	11	10	5	15	0	2	0	1	0	1	0	4	1	3	0	4	1	4	2	4	1	5	4			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr4:110932547C>A	ENST00000265171.5	+	24	4005	c.3560C>A	c.(3559-3561)tCa>tAa	p.S1187*	EGF_ENST00000503392.1_Nonsense_Mutation_p.S1146*|EGF_ENST00000509793.1_Nonsense_Mutation_p.S1145*	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1187					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.S1187L(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TCTCTCCTATCAGCTAACCCA	0.502													A	110932547	C	A	110932547	4	1	456	1	0	0	0	0	0	1	0	0	5001	838	29	4	3654	4	EGF	4	110932547	Nonsense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		110932547	80221729	9	43788											
LTB	4050	broad.mit.edu	37	chr6	31548718	31548718	+	Frame_Shift_Del	DEL	C	C	-																															gagtgcccggcccgtaggcgCcccccgcccggtacagagag																										TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr6:31548718delC	ENST00000429299.2	-	4	510	c.503delG	c.(502-504)ggcfs	p.G168fs	LTB_ENST00000483972.1_5'UTR|LTB_ENST00000446745.2_3'UTR	NM_002341.1	NP_002332.1	Q06643	TNFC_HUMAN	lymphotoxin beta (TNF superfamily, member 3)	168					cell-cell signaling|immune response|positive regulation of interleukin-12 biosynthetic process|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	9					Infliximab(DB00065)|Simvastatin(DB00641)	CCCGTAGGCGCCCCCCGCCCG	0.751													-	31548718	C	-	31548718	7	5	456	1	0	1	0	1	0	0	0	0	9140	739	26	0	235	0	LTB	6	31548718	Frame_Shift_Del	DEL	C	TCGA-E1-A7YQ-01A-11D-A34J-08		31548718	139566349	10	43789											
C6orf211	79624	broad.mit.edu	37	chr6	151789765	151789765	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaggttcatttttatggAaaaacaattccatggtttgt	12	16	8	5	0	1	1	1	1	0	0	2	2	2	2	1	3	1	2	1	3	4	6			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr6:151789765A>G	ENST00000367294.3	+	5	1105	c.846A>G	c.(844-846)ggA>ggG	p.G282G	C6orf211_ENST00000545879.1_Silent_p.G163G	NM_024573.1	NP_078849.1	Q9H993	CF211_HUMAN	chromosome 6 open reading frame 211	282							protein binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(5)|lung(7)	15			BRCA - Breast invasive adenocarcinoma(37;0.183)	OV - Ovarian serous cystadenocarcinoma(155;5.27e-11)		ATTTTTATGGAAAAACAATTC	0.333													G	151789765	A	G	151789765	2	3	456	1	0	0	0	0	0	0	0	1	2376	233	9	3		3	C6orf211	6	151789765	Silent	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	120241047	151789765	19325302	11	43790											
EGFR	1956	broad.mit.edu	37	chr7	55240750	55240750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtggtggccctggggatcgGcctcttcatgcgaaggcgcc	4	8	17	12	3	2	0	1	0	1	0	3	2	2	1	3	7	1	0	3	7	1	1			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:55240750G>A	ENST00000275493.2	+	17	2171	c.1994G>A	c.(1993-1995)gGc>gAc	p.G665D	EGFR_ENST00000454757.2_Missense_Mutation_p.G612D|EGFR_ENST00000455089.1_Missense_Mutation_p.G620D|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	665					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTGGGGATCGGCCTCTTCATG	0.652		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55240750	G	A	55240750	3	1	456	1	0	0	0	0	1	0	0	0	5006	1203	42	2	2324	2	EGFR	7	55240750	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		55240750	103897913	12	43791											
MUC17	140453	broad.mit.edu	37	chr7	100685498	100685498	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacaccttccactccttctGttgacagaagcacacctgtg	9	10	7	15	0	1	2	0	1	1	1	3	2	3	2	4	0	1	3	4	0	1	3			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:100685498G>C	ENST00000306151.4	+	3	10865	c.10801G>C	c.(10801-10803)Gtt>Ctt	p.V3601L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3601	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)					CACTCCTTCTGTTGACAGAAG	0.463													C	100685498	G	C	100685498	3	2	456	1	0	0	0	0	1	0	0	0	10050	1377	48	4	10811	4	MUC17	7	100685498	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	45444748	100685498	58453165	13	43792											
SLC26A4	5172	broad.mit.edu	37	chr7	107355878	107355878	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttccacaggctatgcgtaCacttgcatcctgaaagtggg	9	10	11	11	1	0	1	0	1	0	0	2	1	2	1	2	2	3	4	2	2	3	4			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr7:107355878C>G	ENST00000265715.3	+	21	2554	c.2330C>G	c.(2329-2331)aCa>aGa	p.T777R	SLC26A4_ENST00000543100.1_Missense_Mutation_p.T346R|SLC26A4_ENST00000541474.1_Missense_Mutation_p.T338R|SLC26A4_ENST00000544569.1_Missense_Mutation_p.T364R	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	777					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						GCTATGCGTACACTTGCATCC	0.373									Pendred syndrome				G	107355878	C	G	107355878	3	3	456	1	0	0	0	0	1	0	0	0	14613	478	17	4	2408	4	SLC26A4	7	107355878	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	6670380	107355878	51782785	14	43793											
C9orf3	84909	broad.mit.edu	37	chr9	97535395	97535397	+	In_Frame_Del	DEL	TTT	TTT	-																															acagttcgagcagctgcatcTtttgttgttttaatgagtgg																								rs151071633	by1000genomes	TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr9:97535395_97535397delTTT	ENST00000375315.2	+	2	909_911	c.909_911delTTT	c.(907-912)tctttt>tct	p.F304del	C9orf3_ENST00000297979.5_In_Frame_Del_p.F304del|C9orf3_ENST00000277198.2_In_Frame_Del_p.F304del	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	304					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAGCTGCATCTTTTGTTGTTTTA	0.463													-	97535397	TTT	-	97535395	7	5	456	1	0	1	0	1	0	0	0	0	2503	1596	56	0	915	0	C9orf3	9	97535395	In_Frame_Del	DEL	TTT	TCGA-E1-A7YQ-01A-11D-A34J-08		97535395	43678036	15	43794											
VTI1A	143187	broad.mit.edu	37	chr10	114207166	114207166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaggttacgagcaggactTcgcggtgctcactgcagaga	10	7	14	10	4	1	1	1	0	0	1	2	5	1	2	0	3	4	4	0	3	2	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr10:114207166T>C	ENST00000393077.2	+	1	151	c.35T>C	c.(34-36)tTc>tCc	p.F12S	VTI1A_ENST00000483122.1_3'UTR|VTI1A_ENST00000432306.1_Missense_Mutation_p.F12S	NM_145206.2	NP_660207.2	Q96AJ9	VTI1A_HUMAN	vesicle transport through interaction with t-SNAREs 1A	12					intracellular protein transport|retrograde transport, endosome to Golgi	SNARE complex	protein transporter activity|SNAP receptor activity		VTI1A/TCF7L2(8)	breast(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	6		Colorectal(252;0.0314)|Breast(234;0.183)		Epithelial(162;0.0126)|all cancers(201;0.0487)		GAGCAGGACTTCGCGGTGCTC	0.647			T	TCF7L2	colorectal								C	114207166	T	C	114207166	3	2	456	1	0	0	0	0	1	0	0	0	17337	1783	62	3	37	3	VTI1A	10	114207166	Missense_Mutation	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08		114207166	21327581	16	43795											
TACC2	10579	broad.mit.edu	37	chr10	124009064	124009064	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccctgtctccgcagggccaAtgctgagattgctcaggttc	6	11	11	13	1	2	1	1	1	1	1	5	2	3	1	3	2	2	4	3	2	1	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr10:124009064A>G	ENST00000369005.1	+	22	9006	c.8666A>G	c.(8665-8667)aAt>aGt	p.N2889S	TACC2_ENST00000369001.1_Missense_Mutation_p.N516S|TACC2_ENST00000260733.3_Missense_Mutation_p.N967S|TACC2_ENST00000368999.1_Missense_Mutation_p.N979S|TACC2_ENST00000369004.3_Missense_Mutation_p.N949S|TACC2_ENST00000515603.1_Missense_Mutation_p.N2767S|TACC2_ENST00000358010.1_Missense_Mutation_p.N1035S|TACC2_ENST00000369000.1_Missense_Mutation_p.N512S|TACC2_ENST00000334433.3_Missense_Mutation_p.N2889S|TACC2_ENST00000360561.3_Missense_Mutation_p.N937S|TACC2_ENST00000453444.2_Missense_Mutation_p.N2816S|TACC2_ENST00000513429.1_Missense_Mutation_p.N1035S|TACC2_ENST00000515273.1_Missense_Mutation_p.N2816S	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	2889						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CGCAGGGCCAATGCTGAGATT	0.612													G	124009064	A	G	124009064	3	3	456	1	0	0	0	0	1	0	0	0	15599	101	4	3	8820	3	TACC2	10	124009064	Missense_Mutation	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	9801898	124009064	11525683	17	43796											
DCDC1	341019	broad.mit.edu	37	chr11	30926645	30926645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcgtgcaggtcttcatccGtaaagacaatagacgtgctt	10	12	10	9	3	2	2	1	0	1	2	3	2	3	2	1	1	3	3	1	1	4	5	rs144668195		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr11:30926645G>A	ENST00000597505.1	-	29	4170	c.4171C>T	c.(4171-4173)Cgg>Tgg	p.R1391W	DCDC1_ENST00000406071.2_Missense_Mutation_p.R126W|DCDC1_ENST00000339794.5_Missense_Mutation_p.R470W			P59894	DCDC1_HUMAN	doublecortin domain containing 1	153					intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					GTCTTCATCCGTAAAGACAAT	0.403													A	30926645	G	A	30926645	3	1	456	1	0	0	0	0	1	0	0	0	4318	1160	40	1		1	DCDC1	11	30926645	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		30926645	104079871	18	43797											
CASP4	837	broad.mit.edu	37	chr11	104815486	104815486	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacttaaccattttcaattGccaggaaagaggtagaaata	17	11	7	6	0	1	2	1	0	0	2	1	3	1	3	2	2	3	1	2	2	7	7			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr11:104815486G>T	ENST00000444739.2	-	8	2038	c.1128C>A	c.(1126-1128)ggC>ggA	p.G376G	CASP4_ENST00000393150.3_Silent_p.G320G	NM_001225.3	NP_001216.1	P49662	CASP4_HUMAN	caspase 4, apoptosis-related cysteine peptidase	376					apoptosis|induction of apoptosis|proteolysis	intracellular	cysteine-type endopeptidase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(1)|skin(1)|urinary_tract(2)	23		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000854)|Epithelial(105;0.00879)|all cancers(92;0.0357)		ATTTTCAATTGCCAGGAAAGA	0.383													T	104815486	G	T	104815486	2	4	456	1	0	0	0	0	0	0	0	1	2699	1306	46	4		4	CASP4	11	104815486	Silent	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	73888841	104815486	30191030	19	43798											
KCNA5	3741	broad.mit.edu	37	chr12	5153998	5153998	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaggagaagcccctgcccCgcaacgagttccagcgccag	11	3	12	15	3	0	2	0	0	0	2	1	4	1	2	6	1	4	2	6	1	3	1			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:5153998C>T	ENST00000252321.3	+	1	914	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	229						Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						GCCCCTGCCCCGCAACGAGTT	0.607													T	5153998	C	T	5153998	3	4	456	1	0	0	0	0	1	0	0	0	8064	652	23	1	687	1	KCNA5	12	5153998	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		5153998	128697897	20	43799											
CLSTN3	9746	broad.mit.edu	37	chr12	7295599	7295599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggctggactatagggatttcGagagcctgggcaaaggcatg	10	8	16	7	1	0	1	0	0	0	1	1	4	0	3	1	5	1	3	1	5	3	3			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:7295599G>A	ENST00000537408.1	+	10	2249	c.1711G>A	c.(1711-1713)Gag>Aag	p.E571K	CLSTN3_ENST00000266546.6_Missense_Mutation_p.E559K			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	559					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TAGGGATTTCGAGAGCCTGGG	0.612													A	7295599	G	A	7295599	3	1	456	1	0	0	0	0	1	0	0	0	3594	1059	37	1	1717	1	CLSTN3	12	7295599	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	2141601	7295599	126556296	21	43800											
CACNB3	784	broad.mit.edu	37	chr12	49219447	49219447	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactcccaccccaggatcTccatcacccgagtcacagcc	9	6	5	21	1	3	0	2	0	1	0	6	2	5	1	7	1	1	0	7	1	0	0			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:49219447T>C	ENST00000301050.2	+	9	836	c.637T>C	c.(637-639)Tcc>Ccc	p.S213P	CACNB3_ENST00000547230.1_Missense_Mutation_p.S172P|CACNB3_ENST00000547392.1_Missense_Mutation_p.S186P|CACNB3_ENST00000536187.2_Missense_Mutation_p.S212P|CACNB3_ENST00000540990.1_Missense_Mutation_p.S200P	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	213					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCCCAGGATCTCCATCACCCG	0.562													C	49219447	T	C	49219447	3	2	456	1	0	0	0	0	1	0	0	0	2580	1551	54	3	671	3	CACNB3	12	49219447	Missense_Mutation	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08	41923848	49219447	84632448	22	43801											
MCRS1	10445	broad.mit.edu	37	chr12	49959390	49959390	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctggccccctttgcccgggtAgaagattttgccaggctgct	5	11	12	13	1	0	2	0	0	0	2	0	2	0	2	4	3	3	3	4	3	2	4			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:49959390A>G	ENST00000550165.1	-	5	476	c.210T>C	c.(208-210)tcT>tcC	p.S70S	MCRS1_ENST00000357123.4_Silent_p.S83S|MCRS1_ENST00000343810.4_Silent_p.S70S|MCRS1_ENST00000546244.1_5'UTR			Q96EZ8	MCRS1_HUMAN	microspherule protein 1	70	Ser-rich.				DNA recombination|DNA repair|protein modification process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|MLL1 complex|nucleolus	protein binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(11)	23						TTGCCCGGGTAGAAGATTTTG	0.562													G	49959390	A	G	49959390	2	3	456	1	0	0	0	0	0	0	0	1	9474	407	15	3		3	MCRS1	12	49959390	Silent	SNP	A	TCGA-E1-A7YQ-01A-11D-A34J-08	739943	49959390	83892505	23	43802											
CUX2	23316	broad.mit.edu	37	chr12	111758084	111758084	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggggccccgcgcaggcGccgctcccggtcctgtcccc	2	4	15	20	6	0	0	0	0	0	0	3	0	3	0	7	4	1	2	7	4	0	0			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr12:111758084G>A	ENST00000261726.6	+	17	2425	c.2271G>A	c.(2269-2271)gcG>gcA	p.A757A		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	757						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						CCGCGCAGGCGCCGCTCCCGG	0.736													A	111758084	G	A	111758084	2	1	456	1	0	0	0	0	0	0	0	1	4098	1074	38	1		1	CUX2	12	111758084	Silent	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	61798694	111758084	22093811	24	43803											
DIS3	22894	broad.mit.edu	37	chr13	73345240	73345240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgtccacgtcacattttaagGaacacaagttagagctaagc	14	10	8	9	1	1	1	1	0	0	1	2	2	2	2	1	1	3	2	1	1	5	4			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr13:73345240G>A	ENST00000377767.4	-	12	1749	c.1649C>T	c.(1648-1650)tCc>tTc	p.S550F	DIS3_ENST00000545453.1_Missense_Mutation_p.S388F|DIS3_ENST00000377780.4_Missense_Mutation_p.S520F	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	550					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ACATTTTAAGGAACACAAGTT	0.348										Multiple Myeloma(4;0.011)			A	73345240	G	A	73345240	3	1	456	1	0	0	0	0	1	0	0	0	4574	1174	41	2	1267	2	DIS3	13	73345240	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		73345240	41824638	25	43804											
TMCO3	55002	broad.mit.edu	37	chr13	114149982	114149982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggagcacgaggaggtggCgcagcgtgtgatcaaactgc	9	7	17	8	3	1	1	1	1	0	0	1	4	1	3	0	4	4	2	0	4	1	0			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr13:114149982C>T	ENST00000434316.2	+	2	445	c.86C>T	c.(85-87)gCg>gTg	p.A29V	TMCO3_ENST00000474393.1_3'UTR|TMCO3_ENST00000375391.1_Missense_Mutation_p.A29V	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	29						integral to membrane	solute:hydrogen antiporter activity			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			GAGGAGGTGGCGCAGCGTGTG	0.647													T	114149982	C	T	114149982	3	4	456	1	0	0	0	0	1	0	0	0	16097	768	27	1	88	1	TMCO3	13	114149982	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	40804742	114149982	1019896	26	43805											
HHIPL1	84439	broad.mit.edu	37	chr14	100123456	100123456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggccggagacccctttgGgacatttggaaatgcccaaa	11	8	12	10	1	0	1	0	0	0	1	0	5	0	3	4	4	1	0	4	4	2	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr14:100123456G>T	ENST00000330710.5	+	3	1120	c.1022G>T	c.(1021-1023)gGg>gTg	p.G341V	HHIPL1_ENST00000357223.2_Missense_Mutation_p.G341V	NM_001127258.1	NP_001120730.1	Q96JK4	HIPL1_HUMAN	HHIP-like 1	341					carbohydrate metabolic process	extracellular region|membrane	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding|scavenger receptor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|skin(2)	15		Melanoma(154;0.128)				GACCCCTTTGGGACATTTGGA	0.532													T	100123456	G	T	100123456	3	4	456	1	0	0	0	0	1	0	0	0	7148	1232	43	4	1032	4	HHIPL1	14	100123456	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		100123456	7226084	27	43806											
AKAP13	11214	broad.mit.edu	37	chr15	86284361	86284361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactcgcagcttgtcccgcCcgagctccctcattgagcag	6	9	9	17	3	2	1	2	1	0	0	5	2	4	1	3	0	3	4	3	0	0	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr15:86284361C>A	ENST00000394518.2	+	35	7788	c.7693C>A	c.(7693-7695)Ccg>Acg	p.P2565T	AKAP13_ENST00000394510.2_Missense_Mutation_p.P810T|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Missense_Mutation_p.P2569T	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2565	Interaction with ESR1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CTTGTCCCGCCCGAGCTCCCT	0.627													A	86284361	C	A	86284361	3	1	456	1	0	0	0	0	1	0	0	0	449	623	22	4	7897	4	AKAP13	15	86284361	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		86284361	16247031	28	43807											
MYO15A	51168	broad.mit.edu	37	chr17	18023162	18023162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatccctatgcgccgtacGacgcgccatacccaccctat	8	8	8	17	5	0	0	0	0	0	0	1	2	1	1	5	1	3	1	5	1	4	4			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr17:18023162G>A	ENST00000205890.5	+	2	1386	c.1048G>A	c.(1048-1050)Gac>Aac	p.D350N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	350	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCGCCGTACGACGCGCCATA	0.602													A	18023162	G	A	18023162	3	1	456	1	0	0	0	0	1	0	0	0	10139	1058	37	1	1050	1	MYO15A	17	18023162	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		18023162	63172048	29	43808											
ZNF557	79230	broad.mit.edu	37	chr19	7083503	7083503	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatactggagaaaaaccCtacacatgtaatgagtgtgg	15	9	9	8	0	1	2	1	1	0	1	1	3	1	2	1	2	3	1	1	2	5	3			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:7083503C>G	ENST00000414706.1	+	8	1514	c.1041C>G	c.(1039-1041)ccC>ccG	p.P347P	ZNF557_ENST00000252840.6_Silent_p.P347P|ZNF557_ENST00000439035.2_Silent_p.P340P	NM_001044387.1|NM_001044388.1|NM_024341.2	NP_001037852.1|NP_001037853.1|NP_077317.2	Q8N988	ZN557_HUMAN	zinc finger protein 557	340					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(6)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	17				Lung(535;0.179)		GAGAAAAACCCTACACATGTA	0.423													G	7083503	C	G	7083503	2	3	456	1	0	0	0	0	0	0	0	1	18089	668	24	4		4	ZNF557	19	7083503	Silent	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08		7083503	52045480	30	43809											
ARHGEF1	9138	broad.mit.edu	37	chr19	42396888	42396888	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggagcggcacgtggcGgagcggctgctcatgcacct	5	5	17	14	5	1	0	1	0	0	0	1	2	1	2	2	5	4	4	2	5	0	0			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:42396888G>A	ENST00000599846.1	+	7	707	c.582G>A	c.(580-582)gcG>gcA	p.A194A	ARHGEF1_ENST00000378152.4_Silent_p.A176A|ARHGEF1_ENST00000354532.3_Silent_p.A194A|ARHGEF1_ENST00000347545.4_Silent_p.A161A|ARHGEF1_ENST00000337665.4_Silent_p.A209A			Q92888	ARHG1_HUMAN	Rho guanine nucleotide exchange factor (GEF) 1	194	RGSL.				cell proliferation|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway|positive regulation of axonogenesis|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol|plasma membrane	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37		Renal(1328;0.000518)|Hepatocellular(1079;0.0046)|Medulloblastoma(540;0.0425)		Epithelial(262;5.89e-46)|GBM - Glioblastoma multiforme(1328;2.49e-12)|STAD - Stomach adenocarcinoma(1328;0.00644)		GGCACGTGGCGGAGCGGCTGC	0.706													A	42396888	G	A	42396888	2	1	456	1	0	0	0	0	0	0	0	1	896	1103	39	1		1	ARHGEF1	19	42396888	Silent	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	35313385	42396888	16732095	31	43810											
ZSCAN1	284312	broad.mit.edu	37	chr19	58549469	58549469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggagcagttcctgggcGcgctgcccagcaagatgcgg	6	7	16	12	3	0	1	0	0	0	1	1	2	1	2	2	3	5	5	2	3	1	1	rs148253808		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr19:58549469G>A	ENST00000282326.1	+	3	512	c.265G>A	c.(265-267)Gcg>Acg	p.A89T	ZSCAN1_ENST00000601162.1_Missense_Mutation_p.A89T|ZSCAN1_ENST00000391700.1_Missense_Mutation_p.A89T	NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	89	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.A89T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		GTTCCTGGGCGCGCTGCCCAG	0.692													A	58549469	G	A	58549469	3	1	456	1	0	0	0	0	1	0	0	0	18325	1087	38	1	267	1	ZSCAN1	19	58549469	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	16152581	58549469	579514	32	43811											
TCN2	6948	broad.mit.edu	37	chr22	31018998	31018998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccctacttaacctccGtgatggggaaagcggccgga	9	6	13	13	3	0	1	0	1	0	0	1	3	1	3	5	5	3	0	5	5	3	2	rs144166182		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr22:31018998G>A	ENST00000215838.3	+	8	1644	c.1150G>A	c.(1150-1152)Gtg>Atg	p.V384M	TCN2_ENST00000407817.3_Missense_Mutation_p.V357M|TCN2_ENST00000405742.3_Missense_Mutation_p.V380M			P20062	TCO2_HUMAN	transcobalamin II	384					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular space	cobalamin binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|prostate(2)|urinary_tract(1)	22					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTAACCTCCGTGATGGGGAA	0.557													A	31018998	G	A	31018998	3	1	456	1	0	0	0	0	1	0	0	0	15807	1145	40	1	1180	1	TCN2	22	31018998	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		31018998	20285568	33	43812											
SYN3	8224	broad.mit.edu	37	chr22	32923909	32923909	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtcctgggtcataccttgCggaggtgggcgtggctgggg	3	10	19	9	3	1	0	1	0	0	0	3	1	2	1	2	7	2	1	2	7	1	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chr22:32923909C>T	ENST00000358763.2	-	12	1556	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	SYN3_ENST00000332840.5_Silent_p.P438P	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	438	J; Pro-rich linker.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TCATACCTTGCGGAGGTGGGC	0.587													T	32923909	C	T	32923909	2	4	456	1	0	0	0	0	0	0	0	1	15539	755	27	1		1	SYN3	22	32923909	Silent	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	1904911	32923909	18380657	34	43813											
TLR7	51284	broad.mit.edu	37	chrX	12905054	12905054	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taagtatgcaaggagttgcaGattcaaaaacaaagaggctt	17	9	10	5	0	1	2	1	0	0	2	1	3	1	3	0	2	3	5	0	2	6	5			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:12905054G>C	ENST00000380659.3	+	3	1566	c.1427G>C	c.(1426-1428)aGa>aCa	p.R476T		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	476					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AGGAGTTGCAGATTCAAAAAC	0.368													C	12905054	G	C	12905054	3	2	456	1	0	0	0	0	1	0	0	0	16056	942	33	4	1433	4	TLR7	23	12905054	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08		12905054	142365506	35	43814											
RAI2	10742	broad.mit.edu	37	chrX	17819635	17819635	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcaggtccaggagctgggGctgggcctcggggtcctccg	3	7	17	14	2	1	0	1	0	0	0	5	1	4	1	5	7	1	2	5	7	0	0			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:17819635G>C	ENST00000545871.1	-	3	956	c.496C>G	c.(496-498)Ccc>Gcc	p.P166A	RAI2_ENST00000360011.1_Missense_Mutation_p.P166A|RAI2_ENST00000331511.1_Missense_Mutation_p.P166A|RAI2_ENST00000451717.1_Missense_Mutation_p.P166A|RAI2_ENST00000415486.3_Missense_Mutation_p.P116A	NM_001172739.1|NM_001172743.1	NP_001166210|NP_001166214	Q9Y5P3	RAI2_HUMAN	retinoic acid induced 2	166					embryo development					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	22	Hepatocellular(33;0.183)					AGGAGCTGGGGCTGGGCCTCG	0.637													C	17819635	G	C	17819635	3	2	456	1	0	0	0	0	1	0	0	0	13097	1203	42	4	1100	4	RAI2	23	17819635	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	4914581	17819635	137450925	36	43815											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998163	27998163	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatttctgtgccccttatatCtcttaacatattgagcacca	10	16	4	11	0	2	1	0	1	2	0	3	1	2	1	3	0	3	1	3	0	5	7			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:27998163C>G	ENST00000441525.1	-	1	1403	c.1289G>C	c.(1288-1290)aGa>aCa	p.R430T		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	430										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CCCCTTATATCTCTTAACATA	0.458													G	27998163	C	G	27998163	3	3	456	1	0	0	0	0	1	0	0	0	4311	913	32	4	517	4	DCAF8L1	23	27998163	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	10178528	27998163	127272397	37	43816											
FAM47B	170062	broad.mit.edu	37	chrX	34961676	34961676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggaacctccagagactcGcgcatctcatctccgcgtgg	7	7	10	17	5	2	1	1	0	2	1	6	3	3	2	4	2	1	1	4	2	1	0			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:34961676G>A	ENST00000329357.5	+	1	764	c.728G>A	c.(727-729)cGc>cAc	p.R243H		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	243	Pro-rich.									breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CCAGAGACTCGCGCATCTCAT	0.642													A	34961676	G	A	34961676	3	1	456	1	0	0	0	0	1	0	0	0	5621	1087	38	1	730	1	FAM47B	23	34961676	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	6963513	34961676	120308884	38	43817											
SRPX	8406	broad.mit.edu	37	chrX	38079976	38079978	+	In_Frame_Del	DEL	GCA	GCA	-																															gctgcggctgggcgggacgcGcagcagcagcagcagcagca																								rs72445954		TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:38079976_38079978delGCA	ENST00000378533.3	-	1	174_176	c.68_70delTGC	c.(67-72)ctgcgc>cgc	p.L23del	TM4SF2_ENST00000465127.1_Intron|SRPX_ENST00000343800.6_Intron|SRPX_ENST00000538295.1_In_Frame_Del_p.L23del|SRPX_ENST00000544439.1_In_Frame_Del_p.L23del|SRPX_ENST00000432886.2_In_Frame_Del_p.L23del	NM_006307.4	NP_006298.1	P78539	SRPX_HUMAN	sushi-repeat containing protein, X-linked	23			Missing.		cell adhesion	cell surface|membrane		p.L23delL(2)		autonomic_ganglia(1)|breast(2)|endometrium(5)|large_intestine(5)|lung(10)|prostate(2)	25						GGCGGGACGCgcagcagcagcag	0.729											OREG0019726	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	38079978	GCA	-	38079976	7	5	456	1	0	1	0	1	0	0	0	0	15260	1087	38	0	1364	0	SRPX	23	38079976	In_Frame_Del	DEL	GCA	TCGA-E1-A7YQ-01A-11D-A34J-08	3118300	38079976	117190584	39	43818											
ZNF157	7712	broad.mit.edu	37	chrX	47270081	47270081	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatttcccattaacaggcCtctgcgtggccaaaccagag	10	8	9	14	1	1	1	0	0	1	1	2	1	2	1	5	2	3	0	5	2	2	2			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:47270081C>A	ENST00000377073.3	+	3	288	c.202C>A	c.(202-204)Ctc>Atc	p.L68I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	68	KRAB.				negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						ATTAACAGGCCTCTGCGTGGC	0.517													A	47270081	C	A	47270081	3	1	456	1	0	0	0	0	1	0	0	0	17838	681	24	4	212	4	ZNF157	23	47270081	Missense_Mutation	SNP	C	TCGA-E1-A7YQ-01A-11D-A34J-08	9190105	47270081	108000479	40	43819											
PCDH19	57526	broad.mit.edu	37	chrX	99661865	99661865	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctatgccagagttgcggggTatgtagacctcggcagtgcc	7	9	14	11	2	0	2	0	0	0	2	1	2	0	2	4	3	3	4	4	3	3	4			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:99661865T>C	ENST00000373034.4	-	1	3406	c.1731A>G	c.(1729-1731)atA>atG	p.I577M	PCDH19_ENST00000420881.2_Missense_Mutation_p.I577M|PCDH19_ENST00000255531.7_Missense_Mutation_p.I577M	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	577	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGTTGCGGGGTATGTAGACCT	0.572													C	99661865	T	C	99661865	3	2	456	1	0	0	0	0	1	0	0	0	11590	1628	57	3	1739	3	PCDH19	23	99661865	Missense_Mutation	SNP	T	TCGA-E1-A7YQ-01A-11D-A34J-08	52391784	99661865	55608695	41	43820											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299247	125299247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacatgtctgggtccatccGccacagagccacggtgccgt	9	7	11	14	3	1	1	0	0	1	1	3	1	3	1	5	2	3	0	5	2	1	0			TCGA-E1-A7YQ-01A-11D-A34J-08	TCGA-E1-A7YQ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a958293-774d-4cb9-ba11-59ac163cfd03	df861df9-ee5c-4f51-8f5b-cefb65965693	g.chrX:125299247G>A	ENST00000538699.1	-	2	741	c.661C>T	c.(661-663)Cgg>Tgg	p.R221W	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R221W	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	221										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGGTCCATCCGCCACAGAGCC	0.637													A	125299247	G	A	125299247	3	1	456	1	0	0	0	0	1	0	0	0	4299	1086	38	1	734	1	DCAF12L2	23	125299247	Missense_Mutation	SNP	G	TCGA-E1-A7YQ-01A-11D-A34J-08	25637382	125299247	29971313	42	43821											
CHD5	26038	broad.mit.edu	37	chr1	6194808	6194808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagggaagaggtaggggtgGttgcagcactttttcaggtc	9	10	16	6	0	1	1	1	0	0	1	2	2	1	2	0	6	2	4	0	6	2	4			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:6194808G>A	ENST00000262450.3	-	19	3081	c.2982C>T	c.(2980-2982)aaC>aaT	p.N994N	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	994					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		GGTAGGGGTGGTTGCAGCACT	0.572													A	6194808	G	A	6194808	2	1	457	1	0	0	0	0	0	0	0	1	3358	1252	44	2		2	CHD5	1	6194808	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		6194808	243055813	1	43822											
PIK3CD	5293	broad.mit.edu	37	chr1	9780177	9780177	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtgttcagatgagaaGggcgagctgctgaaccccac	9	7	12	13	1	1	3	1	2	0	2	1	5	1	3	4	1	3	3	4	1	2	1			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:9780177G>T	ENST00000536656.1	+	11	1450	c.1242G>T	c.(1240-1242)aaG>aaT	p.K414N	PIK3CD_ENST00000361110.2_Missense_Mutation_p.K414N|PIK3CD_ENST00000377346.4_Missense_Mutation_p.K449N|PIK3CD_ENST00000543390.1_Missense_Mutation_p.K116N			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	449					phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		CAGATGAGAAGGGCGAGCTGC	0.657													T	9780177	G	T	9780177	3	4	457	1	0	0	0	0	1	0	0	0	11992	991	35	4	1381	4	PIK3CD	1	9780177	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	3585369	9780177	239470444	2	43823											
SLC44A5	204962	broad.mit.edu	37	chr1	75684273	75684273	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgaatgcaccagcaagggcGcactgacctaatgcaatgac	13	5	11	12	2	0	2	0	2	0	0	0	3	0	2	2	1	3	4	2	1	4	1	rs148196192		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:75684273G>A	ENST00000370855.5	-	17	1544	c.1431C>T	c.(1429-1431)tgC>tgT	p.C477C	SLC44A5_ENST00000535611.1_Silent_p.C347C|SLC44A5_ENST00000370859.3_Silent_p.C477C	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	477						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						CAGCAAGGGCGCACTGACCTA	0.438													A	75684273	G	A	75684273	2	1	457	1	0	0	0	0	0	0	0	1	14733	1079	38	1		1	SLC44A5	1	75684273	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	65904096	75684273	173566348	3	43824											
SLC35A3	23443	broad.mit.edu	37	chr1	100483315	100483315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatttgcaacctctttatcGataatattatcaacattgat	13	16	5	7	1	2	1	1	1	1	0	3	3	2	2	1	1	3	1	1	1	6	7			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:100483315G>A	ENST00000370155.3	+	7	1223	c.831G>A	c.(829-831)tcG>tcA	p.S277S	SLC35A3_ENST00000465289.1_Intron|SLC35A3_ENST00000370153.1_Silent_p.S319S|SLC35A3_ENST00000427993.2_Silent_p.S277S|SLC35A3_ENST00000370156.3_3'UTR	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	277					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		CCTCTTTATCGATAATATTAT	0.294													A	100483315	G	A	100483315	2	1	457	1	0	0	0	0	0	0	0	1	14666	1045	37	1		1	SLC35A3	1	100483315	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	24799042	100483315	148767306	4	43825											
MAEL	84944	broad.mit.edu	37	chr1	166973530	166973530	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccagggaactggccacctAtctactgcaaggtaatttca	12	9	8	12	0	2	0	1	0	1	0	2	1	2	1	3	3	3	2	3	3	5	4			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr1:166973530A>G	ENST00000367872.4	+	6	881	c.637A>G	c.(637-639)Atc>Gtc	p.I213V	MAEL_ENST00000491055.1_3'UTR|MAEL_ENST00000367870.2_Missense_Mutation_p.I182V	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	213					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						CTGGCCACCTATCTACTGCAA	0.343													G	166973530	A	G	166973530	3	3	457	1	0	0	0	0	1	0	0	0	9225	449	16	3	659	3	MAEL	1	166973530	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	66490215	166973530	82277091	5	43826											
GREB1	9687	broad.mit.edu	37	chr2	11738849	11738849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaagagcacatgacgaaGcagagggtggaacagtatgt	17	5	14	5	1	0	4	0	1	0	3	0	6	0	5	0	2	3	3	0	2	5	1			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:11738849G>A	ENST00000381486.2	+	15	2496	c.2196G>A	c.(2194-2196)aaG>aaA	p.K732K	GREB1_ENST00000234142.5_Silent_p.K732K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	732						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		ACATGACGAAGCAGAGGGTGG	0.453													A	11738849	G	A	11738849	2	1	457	1	0	0	0	0	0	0	0	1	6815	962	34	2		2	GREB1	2	11738849	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		11738849	231460524	6	43827											
DHX57	90957	broad.mit.edu	37	chr2	39053719	39053719	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatcgatggttatggatgTctcagcaatgttggtggaaa	11	13	12	5	1	2	0	2	0	1	0	4	3	2	2	0	4	1	3	0	4	3	2	rs34973087		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:39053719T>A	ENST00000295373.6	-	15	2878	c.2752A>T	c.(2752-2754)Aca>Tca	p.T918S		NM_198963.1	NP_945314.1	Q6P158	DHX57_HUMAN	DEAH (Asp-Glu-Ala-Asp/His) box polypeptide 57	918	Helicase C-terminal.						ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(20)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	62		all_hematologic(82;0.248)				GTTATGGATGTCTCAGCAATG	0.403													A	39053719	T	A	39053719	3	1	457	1	0	0	0	0	1	0	0	0	4552	1667	58	5	1448	5	DHX57	2	39053719	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	27314870	39053719	204145654	7	43828											
GFPT1	2673	broad.mit.edu	37	chr2	69601201	69601201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gattagggtctccaggatttCtcgtctcgttcgaggaacat	8	13	11	9	3	3	0	0	0	3	0	7	4	3	2	1	3	1	1	1	3	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:69601201C>T	ENST00000357308.4	-	2	230	c.52G>A	c.(52-54)Gaa>Aaa	p.E18K	GFPT1_ENST00000494201.1_5'UTR|GFPT1_ENST00000361060.5_Missense_Mutation_p.E18K	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	18	Glutamine amidotransferase type-2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						TCCAGGATTTCTCGTCTCGTT	0.328													T	69601201	C	T	69601201	3	4	457	1	0	0	0	0	1	0	0	0	6401	922	32	2	2065	2	GFPT1	2	69601201	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	30547482	69601201	173598172	8	43829											
TRIM43	129868	broad.mit.edu	37	chr2	96260159	96260159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacaaacaccatcccatcGaagaggcagctgaggaacac	15	4	8	14	1	1	2	1	1	0	1	3	4	2	3	2	2	3	2	2	2	3	0			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:96260159G>A	ENST00000272395.2	+	2	524	c.388G>A	c.(388-390)Gaa>Aaa	p.E130K		NM_001164464.1|NM_138800.1	NP_001157936.1|NP_620155.1	Q96BQ3	TRI43_HUMAN	tripartite motif containing 43	130						intracellular	zinc ion binding			breast(1)|large_intestine(3)|lung(7)|ovary(1)	12						CCATCCCATCGAAGAGGCAGC	0.488													A	96260159	G	A	96260159	3	1	457	1	0	0	0	0	1	0	0	0	16619	1059	37	1	390	1	TRIM43	2	96260159	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	26658958	96260159	146939214	9	43830											
TTN	7273	broad.mit.edu	37	chr2	179571236	179571236	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcttgtttcttcctttcatCcacctgtaagttaacattac	8	18	3	12	0	3	0	1	0	2	0	5	0	5	0	3	0	2	3	3	0	3	7			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179571236C>A	ENST00000589042.1	-	102	29589	c.29365G>T	c.(29365-29367)Gat>Tat	p.D9789Y	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.D9472Y|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D8545Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9472	Ig-like 79.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTTCATCCACCTGTAAG	0.383													A	179571236	C	A	179571236	3	1	457	1	0	0	0	0	1	0	0	0	16837	855	30	4	75208	4	TTN	2	179571236	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	83311077	179571236	63628137	10	43831											
TTN	7273	broad.mit.edu	37	chr2	179611639	179611639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaccaaatgaatcggaaCgccatatttcataagctgaa	15	10	8	8	2	1	2	1	2	0	0	2	3	1	3	2	1	3	2	2	1	7	4	rs150492317		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:179611639C>T	ENST00000360870.5	-	46	15710	c.15488G>A	c.(15487-15489)cGt>cAt	p.R5163H	TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000342992.6_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	7080	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R5163H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATCGGAACGCCATATTTC	0.388													T	179611639	C	T	179611639	3	4	457	1	0	0	0	0	1	0	0	0	16837	536	19	1	94809	1	TTN	2	179611639	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	40403	179611639	63587734	11	43832											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	457	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	29501473	209113112	34086261	12	43833											
CAMK1	8536	broad.mit.edu	37	chr3	9804880	9804880	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgtcatccagggctacaAtgttggggtgcttgatcctg	8	12	13	8	0	1	2	1	1	0	1	3	2	3	2	2	3	2	3	2	3	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:9804880A>G	ENST00000256460.3	-	4	410	c.233T>C	c.(232-234)aTt>aCt	p.I78T	OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000449570.2_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	78	Protein kinase.				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		CAGGGCTACAATGTTGGGGTG	0.572													G	9804880	A	G	9804880	3	3	457	1	0	0	0	0	1	0	0	0	2622	101	4	3	915	3	CAMK1	3	9804880	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08		9804880	188217550	13	43834											
DNAH1	25981	broad.mit.edu	37	chr3	52420322	52420322	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccctggatgcggctctGgccagcctgcgcaacctcaa	7	6	11	17	2	2	0	1	0	1	0	2	1	2	1	5	3	5	2	5	3	2	0			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:52420322G>A	ENST00000420323.2	+	55	9033	c.8772G>A	c.(8770-8772)ctG>ctA	p.L2924L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2924	Stalk (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)		ATGCGGCTCTGGCCAGCCTGC	0.582													A	52420322	G	A	52420322	2	1	457	1	0	0	0	0	0	0	0	1	4636	1335	47	2		2	DNAH1	3	52420322	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	42615442	52420322	145602108	14	43835											
OR5H2	79310	broad.mit.edu	37	chr3	98002344	98002344	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctattaattttctaatggttTttattttgtctggctcaatt	8	23	5	5	0	3	0	1	0	2	0	3	0	3	0	0	2	0	2	0	2	5	11			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:98002344T>G	ENST00000355273.2	+	1	613	c.613T>G	c.(613-615)Ttt>Gtt	p.F205V	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						TCTAATGGTTTTTATTTTGTC	0.313													G	98002344	T	G	98002344	3	3	457	1	0	0	0	0	1	0	0	0	11238	1841	64	5	615	5	OR5H2	3	98002344	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	45582022	98002344	100020086	15	43836											
ZBTB20	26137	broad.mit.edu	37	chr3	114058240	114058240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcctttaaggagaaggagCgccaacagatgctgcattgg	13	8	12	8	1	0	2	0	0	0	2	1	4	1	3	2	3	4	2	2	3	4	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:114058240C>T	ENST00000462705.1	-	12	2440	c.1619G>A	c.(1618-1620)cGc>cAc	p.R540H	ZBTB20_ENST00000393785.2_Missense_Mutation_p.R540H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.R540H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.R540H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.R613H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.R540H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	613					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GGAGAAGGAGCGCCAACAGAT	0.498													T	114058240	C	T	114058240	3	4	457	1	0	0	0	0	1	0	0	0	17630	768	27	1	391	1	ZBTB20	3	114058240	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	16055896	114058240	83964190	16	43837											
EIF4G1	1981	broad.mit.edu	37	chr3	184046467	184046467	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatggaaattgacatcccCcacgtgtggctctacctagc	10	9	9	13	1	1	1	0	1	1	0	2	3	2	2	3	2	2	1	3	2	3	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr3:184046467C>T	ENST00000342981.4	+	26	4419	c.4005C>T	c.(4003-4005)ccC>ccT	p.P1335P	EIF4G1_ENST00000427845.1_Silent_p.P1248P|EIF4G1_ENST00000350481.5_Silent_p.P1170P|EIF4G1_ENST00000435046.2_Silent_p.P1138P|EIF4G1_ENST00000346169.2_Silent_p.P1334P|EIF4G1_ENST00000434061.2_Silent_p.P1139P|EIF4G1_ENST00000441154.1_Silent_p.P1171P|EIF4G1_ENST00000411531.1_Silent_p.P1295P|EIF4G1_ENST00000382330.3_Silent_p.P1341P|EIF4G1_ENST00000424196.1_Silent_p.P1341P|EIF4G1_ENST00000352767.3_Silent_p.P1341P|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000392537.2_Silent_p.P1247P|EIF4G1_ENST00000319274.6_Silent_p.P1334P|EIF4G1_ENST00000414031.1_Silent_p.P1294P	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	1334	MI.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TTGACATCCCCCACGTGTGGC	0.532													T	184046467	C	T	184046467	2	4	457	1	0	0	0	0	0	0	0	1	5077	610	22	2		2	EIF4G1	3	184046467	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	69988227	184046467	13975963	17	43838											
KLB	152831	broad.mit.edu	37	chr4	39448717	39448717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccatgagggaatacattGcctccaagcaccgacggggg	10	5	14	12	3	0	1	0	1	0	0	1	3	1	2	4	4	3	1	4	4	3	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:39448717G>T	ENST00000257408.4	+	4	2468	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	791	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						GGAATACATTGCCTCCAAGCA	0.672													T	39448717	G	T	39448717	3	4	457	1	0	0	0	0	1	0	0	0	8390	1319	46	4	2385	4	KLB	4	39448717	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		39448717	151705559	18	43839											
GABRA2	2555	broad.mit.edu	37	chr4	46263984	46263984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatcccaagcccatcctcTtttggtgaagtaattaacag	11	11	6	13	0	1	1	0	1	1	0	3	1	3	1	4	1	2	1	4	1	4	4			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:46263984T>C	ENST00000510861.1	-	9	1191	c.1018A>G	c.(1018-1020)Aga>Gga	p.R340G	GABRA2_ENST00000540012.1_Missense_Mutation_p.R285G|GABRA2_ENST00000507069.1_Missense_Mutation_p.R340G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R340G|GABRA2_ENST00000381620.4_Missense_Mutation_p.R340G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R340G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R340G			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	340					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCCCATCCTCTTTTGGTGAAG	0.393													C	46263984	T	C	46263984	3	2	457	1	0	0	0	0	1	0	0	0	6213	1617	56	3	345	3	GABRA2	4	46263984	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	6815267	46263984	144890292	19	43840											
SMARCAD1	56916	broad.mit.edu	37	chr4	95147295	95147295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagtgttccagaaactccAgataatgaaagaaaagcaag	18	8	8	7	0	1	4	0	1	1	3	3	4	3	4	2	0	2	2	2	0	7	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr4:95147295A>G	ENST00000354268.4	+	3	289	c.216A>G	c.(214-216)ccA>ccG	p.P72P	SMARCAD1_ENST00000457823.2_Silent_p.P72P			Q9H4L7	SMRCD_HUMAN	SWI/SNF-related, matrix-associated actin-dependent regulator of chromatin, subfamily a, containing DEAD/H box 1	72					chromatin modification|nucleotide metabolic process|positive regulation of transcription, DNA-dependent|protein homooligomerization|regulation of DNA recombination	nuclear matrix	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|liver(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44				OV - Ovarian serous cystadenocarcinoma(123;4.33e-08)		CAGAAACTCCAGATAATGAAA	0.313													G	95147295	A	G	95147295	2	3	457	1	0	0	0	0	0	0	0	1	14866	175	7	3		3	SMARCAD1	4	95147295	Silent	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	48883311	95147295	96006981	20	43841											
PIK3R1	5295	broad.mit.edu	37	chr5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgacaaacgtatgAacagcattaaaccagacctt	18	8	7	8	1	0	4	0	2	0	2	0	5	0	4	2	0	4	2	2	0	6	4			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591097	A	G	67591097	3	3	457	1	0	0	0	0	1	0	0	0	11995	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08		67591097	113324163	21	43842											
OR2B3	442184	broad.mit.edu	37	chr6	29054540	29054540	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtggcatgttaagagtCaaggaagactgcagcactga	13	7	13	8	1	1	3	1	1	0	2	1	4	1	4	0	2	3	4	0	2	3	1			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:29054540C>A	ENST00000377173.2	-	1	550	c.486G>T	c.(484-486)ttG>ttT	p.L162F		NM_001005226.2	NP_001005226.1			olfactory receptor, family 2, subfamily B, member 3											breast(1)|endometrium(1)|kidney(2)|lung(17)|prostate(1)|skin(2)	24						TGTTAAGAGTCAAGGAAGACT	0.488													A	29054540	C	A	29054540	3	1	457	1	0	0	0	0	1	0	0	0	11066	825	29	4	459	4	OR2B3	6	29054540	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		29054540	142060527	22	43843											
FAM26E	254228	broad.mit.edu	37	chr6	116836965	116836965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgaaatgtttttttgaaaAcaagaggccagatccttttc	12	14	7	8	0	0	4	0	2	0	2	2	4	1	4	3	1	1	1	3	1	4	5			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr6:116836965A>C	ENST00000368599.3	+	2	794	c.743A>C	c.(742-744)aAc>aCc	p.N248T	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	248						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TTTTTTGAAAACAAGAGGCCA	0.468													C	116836965	A	C	116836965	3	2	457	1	0	0	0	0	1	0	0	0	5601	43	2	5	749	5	FAM26E	6	116836965	Missense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	87782425	116836965	54278102	23	43844											
STK31	56164	broad.mit.edu	37	chr7	23793986	23793986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttcagatgctatacaaGtgttggatgaagggtgcttt	10	14	11	6	0	1	2	1	1	0	1	1	3	1	3	1	2	3	3	1	2	4	5			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:23793986G>A	ENST00000354639.3	+	10	1581	c.1117G>A	c.(1117-1119)Gtg>Atg	p.V373M	STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Missense_Mutation_p.V396M|STK31_ENST00000428484.1_Missense_Mutation_p.V373M|STK31_ENST00000433467.2_Missense_Mutation_p.V396M	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	396							ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGCTATACAAGTGTTGGATGA	0.363													A	23793986	G	A	23793986	3	1	457	1	0	0	0	0	1	0	0	0	15392	1029	36	2	1224	2	STK31	7	23793986	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		23793986	135344677	24	43845											
PCLO	27445	broad.mit.edu	37	chr7	82784068	82784068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaataaatgcacttacctccGttaaatgaggattgggatta	14	12	9	6	1	0	1	0	1	0	0	1	4	1	3	2	2	2	2	2	2	7	5			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:82784068G>A	ENST00000333891.9	-	2	2226	c.1889C>T	c.(1888-1890)aCg>aTg	p.T630M	PCLO_ENST00000423517.2_Missense_Mutation_p.T630M	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTACCTCCGTTAAATGAGG	0.383													A	82784068	G	A	82784068	3	1	457	1	0	0	0	0	1	0	0	0	11659	1145	40	1	13652	1	PCLO	7	82784068	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	58990082	82784068	76354595	25	43846											
SAMD9L	219285	broad.mit.edu	37	chr7	92764432	92764432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccacaaaccttggctcccGaatacacttcttggcttcat	9	13	5	14	1	2	0	1	0	1	0	4	1	4	0	3	2	2	2	3	2	3	6			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:92764432G>A	ENST00000318238.4	-	5	2069	c.853C>T	c.(853-855)Cgg>Tgg	p.R285W	SAMD9L_ENST00000437805.1_Missense_Mutation_p.R285W|SAMD9L_ENST00000411955.1_Missense_Mutation_p.R285W	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	285										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			CTTGGCTCCCGAATACACTTC	0.373													A	92764432	G	A	92764432	3	1	457	1	0	0	0	0	1	0	0	0	13918	1057	37	1	3905	1	SAMD9L	7	92764432	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	9980364	92764432	66374231	26	43847											
TRIM24	8805	broad.mit.edu	37	chr7	138252324	138252324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caactgagatatccaccaaaCcagaacataccacgacaagc	18	4	5	14	1	0	2	0	1	0	2	1	4	1	2	4	0	5	0	4	0	6	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr7:138252324C>T	ENST00000343526.4	+	10	1844	c.1629C>T	c.(1627-1629)aaC>aaT	p.N543N	TRIM24_ENST00000415680.2_Silent_p.N509N|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	543					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						ATCCACCAAACCAGAACATAC	0.443													T	138252324	C	T	138252324	2	4	457	1	0	0	0	0	0	0	0	1	16599	506	18	2		2	TRIM24	7	138252324	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	45487892	138252324	20886339	27	43848											
CSMD1	64478	broad.mit.edu	37	chr8	3611478	3611478	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgagcgttaaatcctttgCgtcggtggttgctgtcagag	7	13	13	8	3	1	2	1	1	0	1	3	2	2	2	1	2	3	3	1	2	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:3611478C>T	ENST00000520002.1	-	6	1460	c.905G>A	c.(904-906)cGc>cAc	p.R302H	CSMD1_ENST00000539096.1_Missense_Mutation_p.R302H|CSMD1_ENST00000602557.1_Missense_Mutation_p.R302H|CSMD1_ENST00000542608.1_Missense_Mutation_p.R302H|CSMD1_ENST00000400186.3_Missense_Mutation_p.R302H|CSMD1_ENST00000537824.1_Missense_Mutation_p.R302H|CSMD1_ENST00000602723.1_Missense_Mutation_p.R302H			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	302	CUB 2.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		AAATCCTTTGCGTCGGTGGTT	0.413													T	3611478	C	T	3611478	3	4	457	1	0	0	0	0	1	0	0	0	3977	768	27	1	9862	1	CSMD1	8	3611478	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		3611478	142752544	28	43849											
FER1L6	654463	broad.mit.edu	37	chr8	125061980	125061980	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggaggggatctccttgctGtatttgaactgctgcaggtg	6	13	14	8	0	1	1	0	1	1	0	2	3	1	3	1	4	4	4	1	4	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:125061980G>C	ENST00000522917.1	+	22	3063	c.2857G>C	c.(2857-2859)Gta>Cta	p.V953L	FER1L6-AS2_ENST00000601180.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.V953L|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	953						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TCTCCTTGCTGTATTTGAACT	0.512													C	125061980	G	C	125061980	3	2	457	1	0	0	0	0	1	0	0	0	5864	1377	48	4	2939	4	FER1L6	8	125061980	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	121450502	125061980	21302042	29	43850											
DENND3	22898	broad.mit.edu	37	chr8	142185466	142185466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcaagacaaacctaggcGttggcaagatcgccatgacc	12	6	10	13	3	1	3	1	1	0	2	2	3	1	3	4	2	1	2	4	2	4	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr8:142185466G>A	ENST00000519811.1	+	14	2513	c.2443G>A	c.(2443-2445)Gtt>Att	p.V815I	DENND3_ENST00000424248.1_Missense_Mutation_p.V683I|DENND3_ENST00000262585.2_Missense_Mutation_p.V735I			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	735										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			AAACCTAGGCGTTGGCAAGAT	0.522											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	142185466	G	A	142185466	3	1	457	1	0	0	0	0	1	0	0	0	4471	1145	40	1	2253	1	DENND3	8	142185466	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	17123486	142185466	4178556	30	43851											
RFX3	5991	broad.mit.edu	37	chr9	3293233	3293233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcactccttctgctgtcTcataattgtccaacagccac	8	12	6	15	0	3	0	2	0	2	0	6	0	5	0	3	1	3	2	3	1	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:3293233T>C	ENST00000382004.3	-	7	886	c.575A>G	c.(574-576)gAg>gGg	p.E192G	RFX3_ENST00000302303.1_Missense_Mutation_p.E192G|RFX3_ENST00000358730.2_Missense_Mutation_p.E192G	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	192					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		TTCTGCTGTCTCATAATTGTC	0.438													C	3293233	T	C	3293233	3	2	457	1	0	0	0	0	1	0	0	0	13352	1551	54	3	1878	3	RFX3	9	3293233	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08		3293233	137920198	31	43852											
GDA	9615	broad.mit.edu	37	chr9	74764597	74764600	+	Splice_Site	DEL	AAGT	AAGT	-																															cggcgtgagcgacagcggcaAagtaagcaggcgcggggtcg																										TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:74764597_74764600delAAGT	ENST00000358399.3	+	1	215_216	c.122_123delAAGT	c.(121-123)aaa>a	p.K41fs	GDA_ENST00000545168.1_Intron|GDA_ENST00000376989.3_Splice_Site_p.K16fs|GDA_ENST00000376986.1_Splice_Site_p.S1fs|GDA_ENST00000238018.4_Splice_Site_p.K41fs	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	41					nervous system development|purine base metabolic process|purine nucleotide catabolic process	cytosol	guanine deaminase activity|zinc ion binding			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		GACAGCGGCAAAGTAAGCAGGCGC	0.686													-	74764600	AAGT	-	74764597	8	5	457	1	0	1	0	1	0	0	1	0	6361	28	1	0	124	0	GDA	9	74764597	Splice_Site	DEL	AAGT	TCGA-E1-A7YS-01A-11D-A34A-08	71471364	74764597	66448834	32	43853											
PRRX2	51450	broad.mit.edu	37	chr9	132482906	132482906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaccgccgcgccaagttccGcaggaatgaaagggccatgc	11	4	13	13	4	0	1	0	1	0	0	1	3	1	2	5	2	2	2	5	2	4	1			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr9:132482906G>A	ENST00000372469.4	+	3	706	c.479G>A	c.(478-480)cGc>cAc	p.R160H		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	160						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				GCCAAGTTCCGCAGGAATGAA	0.672													A	132482906	G	A	132482906	3	1	457	1	0	0	0	0	1	0	0	0	12698	1087	38	1	489	1	PRRX2	9	132482906	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	57718309	132482906	8730525	33	43854											
GDI2	2665	broad.mit.edu	37	chr10	5827898	5827898	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttcttatacacatctcgCattgtggtcttcttaggatc	9	17	6	9	1	4	0	0	0	4	0	6	1	4	1	0	2	1	1	0	2	4	6			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:5827898C>T	ENST00000380191.4	-	5	794	c.504G>A	c.(502-504)atG>atA	p.M168I	GDI2_ENST00000380181.3_Missense_Mutation_p.M123I|GDI2_ENST00000380132.4_Missense_Mutation_p.M172I	NM_001115156.1|NM_001494.3	NP_001108628.1|NP_001485.2	P50395	GDIB_HUMAN	GDP dissociation inhibitor 2	168					protein transport|small GTPase mediated signal transduction	cell surface|cytosol|membrane	protein binding|Rab GDP-dissociation inhibitor activity			NS(1)|breast(1)|large_intestine(1)|lung(6)|urinary_tract(1)	10						ACACATCTCGCATTGTGGTCT	0.363													T	5827898	C	T	5827898	3	4	457	1	0	0	0	0	1	0	0	0	6377	710	25	2	861	2	GDI2	10	5827898	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		5827898	129706849	34	43855											
SEC31B	25956	broad.mit.edu	37	chr10	102258994	102258994	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctcacctagccccacgtCactcttcaaccatgtggcca	9	9	5	18	1	4	0	3	0	2	0	5	0	4	0	5	1	2	0	5	1	2	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:102258994C>G	ENST00000370345.3	-	13	1604	c.1507G>C	c.(1507-1509)Gac>Cac	p.D503H	SEC31B_ENST00000494350.1_5'UTR	NM_015490.3	NP_056305.1	Q9NQW1	SC31B_HUMAN	SEC31 homolog B (S. cerevisiae)	503					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane				NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(3)|lung(17)|ovary(1)|urinary_tract(1)	36		Colorectal(252;0.117)		Epithelial(162;2.36e-10)|all cancers(201;2.09e-08)		AGCCCCACGTCACTCTTCAAC	0.517													G	102258994	C	G	102258994	3	3	457	1	0	0	0	0	1	0	0	0	14092	826	29	4	2088	4	SEC31B	10	102258994	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	96431096	102258994	33275753	35	43856											
TMEM180	79847	broad.mit.edu	37	chr10	104228827	104228827	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctggttgctgggtctgcCcacagctgtggtctatggct	3	12	15	11	0	2	0	0	0	2	0	2	0	2	0	2	5	3	4	2	5	1	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr10:104228827C>G	ENST00000238936.4	+	3	278	c.41C>G	c.(40-42)cCc>cGc	p.P14R	TMEM180_ENST00000366277.2_5'UTR|TMEM180_ENST00000369931.3_Missense_Mutation_p.P14R|TMEM180_ENST00000450947.2_3'UTR	NM_024789.3	NP_079065.2	Q14CX5	TM180_HUMAN	transmembrane protein 180	14						integral to membrane				breast(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|skin(1)	13		Colorectal(252;0.122)		Epithelial(162;3.93e-09)|all cancers(201;1.02e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		CTGGGTCTGCCCACAGCTGTG	0.617													G	104228827	C	G	104228827	3	3	457	1	0	0	0	0	1	0	0	0	16199	623	22	4	43	4	TMEM180	10	104228827	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	1969833	104228827	31305920	36	43857											
OR4A16	81327	broad.mit.edu	37	chr11	55111376	55111376	+	Frame_Shift_Del	DEL	G	G	-																															gtcaggaagagaggcataaaGccctgcctacctgcatctcc																										TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:55111376delG	ENST00000314721.2	+	1	750	c.700delG	c.(700-702)gccfs	p.A234fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GAGGCATAAAGCCCTGCCTAC	0.413													-	55111376	G	-	55111376	7	5	457	1	0	1	0	1	0	0	0	0	11117	971	34	0	702	0	OR4A16	11	55111376	Frame_Shift_Del	DEL	G	TCGA-E1-A7YS-01A-11D-A34A-08		55111376	79895140	37	43858											
OR5B2	390190	broad.mit.edu	37	chr11	58190261	58190261	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagactgaatatgcccccAatgtggaatgaggcatttag	13	9	12	7	0	0	3	0	2	0	1	0	6	0	4	2	2	1	1	2	2	5	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:58190261A>G	ENST00000302581.2	-	1	525	c.474T>C	c.(472-474)atT>atC	p.I158I		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				ATATGCCCCCAATGTGGAATG	0.483													G	58190261	A	G	58190261	2	3	457	1	0	0	0	0	0	0	0	1	11226	126	5	3		3	OR5B2	11	58190261	Silent	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08	3078885	58190261	76816255	38	43859											
SART1	9092	broad.mit.edu	37	chr11	65729299	65729299	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaggaggcggccgggacGacggcggcggccggcaccgg	7	0	22	12	8	0	1	0	0	0	1	0	5	0	3	3	9	0	1	3	9	1	0			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:65729299G>T	ENST00000312397.5	+	1	140	c.48G>T	c.(46-48)acG>acT	p.T16T	SART1_ENST00000528573.1_3'UTR	NM_005146.4	NP_005137.1	O43290	SNUT1_HUMAN	squamous cell carcinoma antigen recognized by T cells	16					cell cycle arrest|induction of apoptosis by intracellular signals|positive regulation of cytotoxic T cell differentiation|spliceosomal snRNP assembly	Cajal body|catalytic step 2 spliceosome|cytosol				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						cggccgggacgacggcggcgg	0.697													T	65729299	G	T	65729299	2	4	457	1	0	0	0	0	0	0	0	1	13938	1045	37	4		4	SART1	11	65729299	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	7539038	65729299	69277217	39	43860											
MMP12	4321	broad.mit.edu	37	chr11	102743629	102743629	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtttcctccatacgggccCccctggcatttccctgaaat	7	12	7	15	1	0	1	0	1	0	0	3	1	3	1	6	2	1	2	6	2	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr11:102743629C>T	ENST00000532855.1	-	0	412							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	CATACGGGCCCCCCTGGCATT	0.502													T	102743629	C	T	102743629	1	4	457	0	1	0	0	0	0	0	0	0	9726	623	22	2		2	MMP12	11	102743629	RNA	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	37014330	102743629	32262887	40	43861											
CNTN1	1272	broad.mit.edu	37	chr12	41423022	41423025	+	Splice_Site	DEL	GTAA	GTAA	-																															gtctcaagtcaaaatttcagGtaagtgagtcatttaagaca																										TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:41423022_41423025delGTAA	ENST00000551295.2	+	23	3097		c.e23+1		CNTN1_ENST00000348761.2_Splice_Site|CNTN1_ENST00000347616.1_Splice_Site	NM_001843.3	NP_001834.2	Q12860	CNTN1_HUMAN	contactin 1						axon guidance|cell adhesion|Notch signaling pathway	anchored to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(21)|lung(49)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	90	all_cancers(12;2.07e-06)|all_epithelial(1;4.26e-06)|Breast(8;0.0716)	Lung NSC(34;0.0211)|all_lung(34;0.0294)				AAAATTTCAGGTAAGTGAGTCATT	0.456													-	41423025	GTAA	-	41423022	8	5	457	1	0	1	0	1	0	0	1	0	3671	1275	44	0	3067	0	CNTN1	12	41423022	Splice_Site	DEL	GTAA	TCGA-E1-A7YS-01A-11D-A34A-08		41423022	92428873	41	43862											
CNOT2	4848	broad.mit.edu	37	chr12	70713109	70713109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatctacatcaggtcagcTgtctcagtttggggcaagtt	9	12	10	10	0	4	0	3	0	2	0	5	0	4	0	1	3	2	4	1	3	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:70713109T>C	ENST00000229195.3	+	4	782	c.203T>C	c.(202-204)cTg>cCg	p.L68P	CNOT2_ENST00000418359.3_Missense_Mutation_p.L68P	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	68					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			TCAGGTCAGCTGTCTCAGTTT	0.333													C	70713109	T	C	70713109	3	2	457	1	0	0	0	0	1	0	0	0	3650	1580	55	3	213	3	CNOT2	12	70713109	Missense_Mutation	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	29290087	70713109	63138786	42	43863											
SRRM4	84530	broad.mit.edu	37	chr12	119588985	119588985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccaaatcccagggcttccCccaggtacacccaaagccga	11	4	7	19	1	0	0	0	0	0	0	2	1	2	0	7	2	2	2	7	2	3	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:119588985C>T	ENST00000267260.4	+	10	1628	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	414	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGCTTCCCCCAGGTACAC	0.542													T	119588985	C	T	119588985	3	4	457	1	0	0	0	0	1	0	0	0	15267	623	22	2	1278	2	SRRM4	12	119588985	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	48875876	119588985	14262910	43	43864											
GOLGA3	2802	broad.mit.edu	37	chr12	133384808	133384808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggctgatctcagacacaaCggacgccgcactgcttctgt	9	8	10	14	3	2	2	1	1	2	1	3	3	2	3	1	2	2	3	1	2	1	1			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr12:133384808C>T	ENST00000204726.3	-	5	1405	c.847G>A	c.(847-849)Gtt>Att	p.V283I	GOLGA3_ENST00000545875.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000456883.2_Missense_Mutation_p.V283I|GOLGA3_ENST00000537452.1_Missense_Mutation_p.V283I|GOLGA3_ENST00000450791.2_Missense_Mutation_p.V283I	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	283					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		TCAGACACAACGGACGCCGCA	0.567													T	133384808	C	T	133384808	3	4	457	1	0	0	0	0	1	0	0	0	6610	536	19	1	3867	1	GOLGA3	12	133384808	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	13795823	133384808	467087	44	43865											
PTPN21	11099	broad.mit.edu	37	chr14	89016730	89016730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaccgtgtagcgccgggtgCgtttcagtttcaacccaaat	9	10	10	12	4	2	0	2	0	0	0	2	0	2	0	3	1	3	3	3	1	3	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr14:89016730C>T	ENST00000556564.1	-	2	316	c.32G>A	c.(31-33)cGc>cAc	p.R11H	PTPN21_ENST00000328736.3_Missense_Mutation_p.R11H|PTPN21_ENST00000554628.1_5'UTR	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	11						cytoplasm|cytoskeleton	binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GCGCCGGGTGCGTTTCAGTTT	0.537													T	89016730	C	T	89016730	3	4	457	1	0	0	0	0	1	0	0	0	12874	768	27	1	3564	1	PTPN21	14	89016730	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		89016730	18332810	45	43866											
SPINT1	6692	broad.mit.edu	37	chr15	41136875	41136875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgggccaccgcccgcgccCcctgggctgcccgcgggagc	2	2	16	21	6	0	0	0	0	0	0	0	1	0	1	7	3	2	1	7	3	0	0			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:41136875C>T	ENST00000344051.4	+	2	357	c.123C>T	c.(121-123)ccC>ccT	p.P41P	SPINT1_ENST00000431806.1_Silent_p.P41P|SPINT1_ENST00000562057.1_Silent_p.P41P			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	41						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CGCCCGCGCCCCCTGGGCTGC	0.746													T	41136875	C	T	41136875	2	4	457	1	0	0	0	0	0	0	0	1	15164	610	22	2		2	SPINT1	15	41136875	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		41136875	61394517	46	43867											
EDC3	80153	broad.mit.edu	37	chr15	74964117	74964117	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgtaatgtcacctgcccTgaaatacacaaaaaagccaa	16	7	5	13	1	1	1	1	1	0	0	2	1	2	1	4	0	3	1	4	0	7	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr15:74964117T>A	ENST00000315127.4	-	3	346		c.e3-2		EDC3_ENST00000426797.3_Splice_Site|EDC3_ENST00000568176.1_Splice_Site	NM_001142444.1|NM_025083.3	NP_001135916.1|NP_079359.2	Q96F86	EDC3_HUMAN	enhancer of mRNA decapping 3						exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol	protein binding|RNA binding	p.?(1)		breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16						TCACCTGCCCTGAAATACACA	0.408													A	74964117	T	A	74964117	5	1	457	1	0	0	0	0	0	0	1	0	4946	1594	55	5	1383	5	EDC3	15	74964117	Splice_Site	SNP	T	TCGA-E1-A7YS-01A-11D-A34A-08	33827242	74964117	27567275	47	43868											
ZNF689	115509	broad.mit.edu	37	chr16	30616153	30616153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtagggcttctcgcccGtgtggatgcgctggtggatg	4	10	18	9	4	1	0	0	0	1	0	2	2	1	2	1	5	1	3	1	5	1	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:30616153G>A	ENST00000287461.3	-	3	1272	c.935C>T	c.(934-936)aCg>aTg	p.T312M	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CTTCTCGCCCGTGTGGATGCG	0.672													A	30616153	G	A	30616153	3	1	457	1	0	0	0	0	1	0	0	0	18195	1145	40	1	571	1	ZNF689	16	30616153	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		30616153	59738600	48	43869											
ZNF720	124411	broad.mit.edu	37	chr16	31766709	31766709	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagagaaaccctacatatGtaaagaatgtggcaaagcct	16	7	10	8	1	0	2	0	0	0	2	0	4	0	3	2	2	3	2	2	2	7	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:31766709G>A	ENST00000399681.3	+	6	1576	c.1097G>A	c.(1096-1098)tGt>tAt	p.C366Y	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000534369.1_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron			Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						CCCTACATATGTAAAGAATGT	0.353													A	31766709	G	A	31766709	3	1	457	1	0	0	0	0	1	0	0	0	18222	1392	48	2		2	ZNF720	16	31766709	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	1150556	31766709	58588044	49	43870											
SLC12A3	6559	broad.mit.edu	37	chr16	56926069	56926069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccatcagtctctggcGcttgtcagtgttcccactca	6	11	9	15	1	4	0	3	0	1	0	6	0	5	0	3	2	0	2	3	2	0	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:56926069G>A	ENST00000438926.2	+	20	2472	c.2443G>A	c.(2443-2445)Gct>Act	p.A815T	SLC12A3_ENST00000262502.5_Intron|SLC12A3_ENST00000563236.1_Intron|SLC12A3_ENST00000566786.1_Missense_Mutation_p.A814T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	806					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGTCTCTGGCGCTTGTCAGTG	0.587													A	56926069	G	A	56926069	3	1	457	1	0	0	0	0	1	0	0	0	14478	1087	38	1	2521	1	SLC12A3	16	56926069	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	25159360	56926069	33428684	50	43871											
NAE1	8883	broad.mit.edu	37	chr16	66851378	66851379	+	In_Frame_Ins	INS	-	-	ATG																															atgatcacaatccatggagtINSatgactgtggtcctaaaaat																										TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr16:66851378_66851379insATG	ENST00000379463.2	-	10	807_808	c.615_616insCAT	c.(613-618)catact>catCATact	p.205_206insH	NAE1_ENST00000394074.2_In_Frame_Ins_p.122_123insH|NAE1_ENST00000290810.3_In_Frame_Ins_p.211_212insH|NAE1_ENST00000359087.4_In_Frame_Ins_p.214_215insH	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	211					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	ATCCATGGAGTATGACTGTGGT	0.287													ATG	66851379	-	ATG	66851378	7	5	457	1	0	1	1	0	0	0	0	0	10215	1638	57	0	1018	0	NAE1	16	66851378	In_Frame_Ins	INS	-	TCGA-E1-A7YS-01A-11D-A34A-08	9925309	66851378	23503375	51	43872											
HOXB4	3214	broad.mit.edu	37	chr17	46655328	46655328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgggcgcagggaggcggCggggggctgctgctgaccgc	3	6	21	11	4	1	1	0	1	1	0	1	2	1	2	1	7	2	4	1	7	0	1			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:46655328C>T	ENST00000332503.5	-	1	2145	c.354G>A	c.(352-354)ccG>ccA	p.P118P	HOXB3_ENST00000498678.1_Intron|HOXB3_ENST00000476342.1_Intron|HOXB3_ENST00000460160.1_Intron|HOXB3_ENST00000489475.1_Intron|HOXB-AS3_ENST00000465846.2_RNA|HOXB3_ENST00000472863.1_Intron|HOXB3_ENST00000552000.2_Intron|HOXB3_ENST00000465120.3_Intron	NM_024015.4	NP_076920.1	P17483	HXB4_HUMAN	homeobox B4	118	Pro-rich (part of the transcriptional activation domain).					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	9						AGGGAGGCGGCGGGGGGCTGC	0.751													T	46655328	C	T	46655328	2	4	457	1	0	0	0	0	0	0	0	1	7358	755	27	1		1	HOXB4	17	46655328	Silent	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08		46655328	34539882	52	43873											
PHOSPHO1	162466	broad.mit.edu	37	chr17	47304069	47304069	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattgtcggtgcattaccGtgagcaccacctgtagggac	8	10	11	12	2	1	1	1	1	0	0	2	2	1	2	3	2	3	3	3	2	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:47304069G>A	ENST00000310544.4	-	0	112				PHOSPHO1_ENST00000514112.1_De_novo_Start_InFrame|PHOSPHO1_ENST00000413580.1_De_novo_Start_InFrame			Q8TCT1	PHOP1_HUMAN	phosphatase, orphan 1						regulation of bone mineralization		metal ion binding|phosphoethanolamine/phosphocholine phosphatase activity							Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)		Choline(DB00122)	GTGCATTACCGTGAGCACCAC	0.562													A	47304069	G	A	47304069	1	1	457	1	0	0	0	0	0	0	0	0	11933	1160	40	1		1	PHOSPHO1	17	47304069	Translation_Start_Site	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	648741	47304069	33891141	53	43874											
DGKE	8526	broad.mit.edu	37	chr17	54933942	54933942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcaattttcatgctcatCgtgagaaggcaccatctctg	9	13	7	12	1	4	1	3	1	2	1	7	2	4	1	1	1	1	2	1	1	2	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:54933942C>T	ENST00000284061.3	+	8	1348	c.1168C>T	c.(1168-1170)Cgt>Tgt	p.R390C		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					TCATGCTCATCGTGAGAAGGC	0.378													T	54933942	C	T	54933942	3	4	457	1	0	0	0	0	1	0	0	0	4507	884	31	1	1194	1	DGKE	17	54933942	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	7629873	54933942	26261268	54	43875											
CSHL1	1444	broad.mit.edu	37	chr17	61987352	61987352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttatccattttcctccttccCcttcagggtgtagagaaagg	8	14	8	11	0	1	1	1	0	0	1	5	2	5	1	5	2	0	1	5	2	3	6			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr17:61987352C>T	ENST00000450719.3	-	3	596	c.359G>A	c.(358-360)gGg>gAg	p.G120E	CSHL1_ENST00000259003.10_Intron|CSHL1_ENST00000309894.5_Intron|CSHL1_ENST00000561003.1_Missense_Mutation_p.G131E|CSHL1_ENST00000392824.4_3'UTR|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Intron|CSHL1_ENST00000438387.2_Intron			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	0						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TCCTCCTTCCCCTTCAGGGTG	0.527													T	61987352	C	T	61987352	3	4	457	1	0	0	0	0	1	0	0	0	3975	638	22	2		2	CSHL1	17	61987352	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	7053410	61987352	19207858	55	43876											
SERPINB10	5273	broad.mit.edu	37	chr18	61600315	61600315	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcaaatgatgtttatgAagaaaaagcttcacattttt	15	14	7	5	0	1	3	1	2	0	1	1	3	1	3	0	0	2	3	0	0	5	5			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr18:61600315A>T	ENST00000238508.3	+	7	726	c.667A>T	c.(667-669)Aag>Tag	p.K223*		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				GATGTTTATGAAGAAAAAGCT	0.373													T	61600315	A	T	61600315	4	4	457	1	0	0	0	0	0	1	0	0	14190	247	9	5	689	5	SERPINB10	18	61600315	Nonsense_Mutation	SNP	A	TCGA-E1-A7YS-01A-11D-A34A-08		61600315	16476933	56	43877											
LPPR3	79948	broad.mit.edu	37	chr19	813360	813362	+	In_Frame_Del	DEL	TCC	TCC	-																															ggccctcgtcctcctcctctTcctcctcctcctcttcctct																										TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:813360_813362delTCC	ENST00000359894.2	-	7	1512_1514	c.1449_1451delGGA	c.(1447-1452)gaggaa>gaa	p.483_484EE>E	LPPR3_ENST00000520876.3_In_Frame_Del_p.455_456EE>E	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN		455						integral to membrane	phosphatidate phosphatase activity										ctcctcctcttcctcctcctcct	0.759													-	813362	TCC	-	813360	7	5	457	1	0	1	0	1	0	0	0	0	8996	1783	62	0	793	0	LPPR3	19	813360	In_Frame_Del	DEL	TCC	TCGA-E1-A7YS-01A-11D-A34A-08		813360	58315623	57	43878											
ATP8B3	148229	broad.mit.edu	37	chr19	1800065	1800065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgttgaggctggtgctgCgggccttggcaggcacgtcc	3	9	18	11	3	0	1	0	1	0	0	2	1	1	1	2	6	2	5	2	6	0	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:1800065C>T	ENST00000539485.1	-	14	1666	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H	ATP8B3_ENST00000310127.6_Missense_Mutation_p.R478H|ATP8B3_ENST00000525591.1_Missense_Mutation_p.R431H|ATP8B3_ENST00000526092.2_Missense_Mutation_p.R425H			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	478					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		GCTGGTGCTGCGGGCCTTGGC	0.587													T	1800065	C	T	1800065	3	4	457	1	0	0	0	0	1	0	0	0	1201	768	27	1	2563	1	ATP8B3	19	1800065	Missense_Mutation	SNP	C	TCGA-E1-A7YS-01A-11D-A34A-08	986705	1800065	57328918	58	43879											
TLE2	7089	broad.mit.edu	37	chr19	3028803	3028803	+	Splice_Site	DEL	T	T	-																															ggccggactggagcggggtcTggggggggtgtgggggaaac																										TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:3028803delT	ENST00000262953.6	-	2	287		c.e2-2		TLE2_ENST00000426948.2_Splice_Site|TLE2_ENST00000455444.2_5'UTR|TLE2_ENST00000591529.1_Splice_Site|TLE2_ENST00000590536.1_Splice_Site|TLE2_ENST00000443826.3_Splice_Site	NM_003260.4	NP_003251.2	Q04725	TLE2_HUMAN	transducin-like enhancer of split 2 (E(sp1) homolog, Drosophila)						negative regulation of canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|organ morphogenesis|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	13				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)		GAGCGGGGTCTGGGGGGGGTG	0.622													-	3028803	T	-	3028803	8	5	457	1	0	1	0	1	0	0	1	0	16039	1594	55	0	2287	0	TLE2	19	3028803	Splice_Site	DEL	T	TCGA-E1-A7YS-01A-11D-A34A-08	1228738	3028803	56100180	59	43880											
LILRB1	10859	broad.mit.edu	37	chr19	55147060	55147060	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggggtggagatggacactcgGgtgagaccccacccctgtcc	7	6	15	13	1	0	2	0	1	0	2	2	5	1	3	5	5	0	0	5	5	0	0			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr19:55147060G>A	ENST00000396331.1	+	14	2007	c.1650G>A	c.(1648-1650)cgG>cgA	p.R550R	LILRB1_ENST00000418536.2_Splice_Site_p.R534R|LILRB1_ENST00000396327.3_Splice_Site_p.R551R|LILRB1_ENST00000434867.2_Splice_Site_p.R550R|LILRB1_ENST00000324602.7_Splice_Site_p.R551R|LILRB1_ENST00000396321.2_Splice_Site_p.R550R|LILRB1_ENST00000396315.1_Splice_Site_p.R551R|LILRB1_ENST00000396332.4_Splice_Site_p.R550R|LILRB1_ENST00000462628.1_3'UTR|LILRB1_ENST00000448689.1_3'UTR|LILRB1_ENST00000396317.1_Splice_Site_p.R534R|LILRB1_ENST00000427581.2_Splice_Site_p.R600R	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	550					regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		TGGACACTCGGGTGAGACCCC	0.607										HNSCC(37;0.09)			A	55147060	G	A	55147060	5	1	457	1	0	0	0	0	0	0	1	0	8850	1246	43	2	1699	2	LILRB1	19	55147060	Splice_Site	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	52118257	55147060	3981923	60	43881											
TGM2	7052	broad.mit.edu	37	chr20	36768010	36768010	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtacttggtgctcaggtcGccctccttgatggcacgaac	6	11	11	13	3	1	1	1	1	0	0	4	2	2	1	2	3	3	3	2	3	2	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:36768010G>A	ENST00000361475.2	-	9	1319	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	TGM2_ENST00000536724.1_Silent_p.G322G|TGM2_ENST00000536701.1_Silent_p.G301G	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	382					apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	p.G382G(1)		endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TGCTCAGGTCGCCCTCCTTGA	0.587													A	36768010	G	A	36768010	2	1	457	1	0	0	0	0	0	0	0	1	15930	1074	38	1		1	TGM2	20	36768010	Silent	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		36768010	26257510	61	43882											
TSHZ2	128553	broad.mit.edu	37	chr20	51871432	51871432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaggatgagaaagtcGtgaaaagcgaggactatgaa	17	5	13	6	2	0	3	0	3	0	1	1	7	0	5	1	2	2	1	1	2	6	1			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chr20:51871432G>A	ENST00000371497.5	+	2	2322	c.1435G>A	c.(1435-1437)Gtg>Atg	p.V479M	TSHZ2_ENST00000329613.6_Missense_Mutation_p.V476M|TSHZ2_ENST00000603338.2_Missense_Mutation_p.V476M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	479					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			TGAGAAAGTCGTGAAAAGCGA	0.413													A	51871432	G	A	51871432	3	1	457	1	0	0	0	0	1	0	0	0	16725	1145	40	1	1441	1	TSHZ2	20	51871432	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	15103422	51871432	11154088	62	43883											
TRMT2B	79979	broad.mit.edu	37	chrX	100278580	100278580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaggcagggctccaatggaGactgtcgaaggaatacttca	13	7	12	9	1	1	1	1	0	0	1	3	4	2	2	1	4	1	2	1	4	5	2			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:100278580G>A	ENST00000338687.7	-	7	1305	c.500C>T	c.(499-501)tCt>tTt	p.S167F	TRMT2B_ENST00000372939.1_Missense_Mutation_p.S167F|TRMT2B_ENST00000372931.5_Missense_Mutation_p.S212F|TRMT2B_ENST00000545398.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000478422.1_5'UTR|TRMT2B_ENST00000372935.1_Missense_Mutation_p.S212F|TRMT2B_ENST00000372936.3_Missense_Mutation_p.S212F			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)	212							tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						CTCCAATGGAGACTGTCGAAG	0.448													A	100278580	G	A	100278580	3	1	457	1	0	0	0	0	1	0	0	0	16667	942	33	2	907	2	TRMT2B	23	100278580	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08		100278580	54991980	63	43884											
SAGE1	55511	broad.mit.edu	37	chrX	134991047	134991047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccattactcacagtgttcGtgaagagaagatggaaagtg	14	10	11	6	1	1	3	1	1	0	2	2	5	1	4	1	1	2	1	1	1	5	3			TCGA-E1-A7YS-01A-11D-A34A-08	TCGA-E1-A7YS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f809ca39-88a1-4b31-a3b0-3db1eabda4eb	e21f03f7-c8ef-4ac5-992c-bb9b96b269fd	g.chrX:134991047G>A	ENST00000535938.1	+	13	1633	c.1466G>A	c.(1465-1467)cGt>cAt	p.R489H	SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000370709.3_Missense_Mutation_p.R489H|SAGE1_ENST00000324447.3_Missense_Mutation_p.R489H	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	489										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACAGTGTTCGTGAAGAGAAG	0.463													A	134991047	G	A	134991047	3	1	457	1	0	0	0	0	1	0	0	0	13900	1145	40	1	1512	1	SAGE1	23	134991047	Missense_Mutation	SNP	G	TCGA-E1-A7YS-01A-11D-A34A-08	34712467	134991047	20279513	64	43885											
VPS13D	55187	broad.mit.edu	37	chr1	12438636	12438636	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtctcgctgcagtgaCtgacaacaggtaattttcta	9	13	10	9	1	2	2	0	2	2	0	3	2	2	2	0	2	3	4	0	2	3	4			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:12438636C>G	ENST00000358136.3	+	56	11202	c.11072C>G	c.(11071-11073)aCt>aGt	p.T3691S	VPS13D_ENST00000356315.4_Missense_Mutation_p.T3666S|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3690					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		GCTGCAGTGACTGACAACAGG	0.453													G	12438636	C	G	12438636	3	3	458	1	0	0	0	0	1	0	0	0	17294	565	20	4	11290	4	VPS13D	1	12438636	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		12438636	236811985	1	43886											
EDEM3	80267	broad.mit.edu	37	chr1	184692991	184692991	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcttttctggcatattcCtgtaatttaaaaaaaaaaaa	18	13	5	5	0	1	1	0	0	1	1	2	1	2	1	1	1	1	3	1	1	8	7			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:184692991C>T	ENST00000318130.8	-	8	1014		c.e8-1		EDEM3_ENST00000367512.3_Splice_Site	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3						post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TGGCATATTCCTGTAATTTaa	0.328													T	184692991	C	T	184692991	5	4	458	1	0	0	0	0	0	0	1	0	4952	695	24	2	2103	2	EDEM3	1	184692991	Splice_Site	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	172254355	184692991	64557630	2	43887											
URB2	9816	broad.mit.edu	37	chr1	229794937	229794937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctgacgtccagttcctgCgggcctcgctgcagccggga	5	7	14	15	4	0	1	0	1	0	0	3	2	2	2	5	2	4	3	5	2	0	1	rs114573548	by1000genomes	TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr1:229794937C>T	ENST00000258243.2	+	10	4604	c.4468C>T	c.(4468-4470)Cgg>Tgg	p.R1490W		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1490						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CCAGTTCCTGCGGGCCTCGCT	0.493													T	229794937	C	T	229794937	3	4	458	1	0	0	0	0	1	0	0	0	17127	759	27	1	4502	1	URB2	1	229794937	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	45101946	229794937	19455684	3	43888											
SF3B1	23451	broad.mit.edu	37	chr2	198267707	198267707	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgatctctcggccttccActctagcatagtaatcttca	11	13	5	12	1	4	1	1	1	3	0	7	1	5	1	2	1	1	2	2	1	4	5			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:198267707A>T	ENST00000335508.6	-	13	1863	c.1772T>A	c.(1771-1773)gTg>gAg	p.V591E		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCGGCCTTCCACTCTAGCATA	0.328			Mis		myelodysplastic syndrome								T	198267707	A	T	198267707	3	4	458	1	0	0	0	0	1	0	0	0	14242	159	6	5	2194	5	SF3B1	2	198267707	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08		198267707	44931666	4	43889											
CPO	130749	broad.mit.edu	37	chr2	207823121	207823121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctttttgccaatggttcGtcaaagaagtaagtgtcttt	9	16	9	7	1	2	1	1	0	1	1	3	1	2	1	1	1	2	3	1	1	4	5			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr2:207823121G>A	ENST00000272852.3	+	4	410	c.364G>A	c.(364-366)Gtc>Atc	p.V122I		NM_173077.2	NP_775100.1	Q8IVL8	CBPO_HUMAN	carboxypeptidase O	122					proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14				LUSC - Lung squamous cell carcinoma(261;0.0744)|Epithelial(149;0.0807)|Lung(261;0.142)		CCAATGGTTCGTCAAAGAAGT	0.428													A	207823121	G	A	207823121	3	1	458	1	0	0	0	0	1	0	0	0	3851	1145	40	1	378	1	CPO	2	207823121	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08	9555414	207823121	35376252	5	43890											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	458	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	1289991	209113112	34086261	6	43891											
COL7A1	1294	broad.mit.edu	37	chr3	48618030	48618030	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcacatttcgtccatcctctCcaggatctccctggtctccc	5	13	5	18	1	4	0	1	0	3	0	10	1	6	1	5	2	0	0	5	2	0	1			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:48618030C>G	ENST00000328333.8	-	54	5143	c.5036G>C	c.(5035-5037)gGa>gCa	p.G1679A	COL7A1_ENST00000454817.1_Missense_Mutation_p.G1679A	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1679	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCCATCCTCTCCAGGATCTCC	0.567													G	48618030	C	G	48618030	3	3	458	1	0	0	0	0	1	0	0	0	3735	855	30	4	4058	4	COL7A1	3	48618030	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		48618030	149404400	7	43892											
DZIP3	9666	broad.mit.edu	37	chr3	108335404	108335404	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagagagaagttgcagctaAcagccagaatggtgaggaaa	17	5	13	6	0	0	4	0	1	0	3	0	6	0	5	1	2	4	3	1	2	4	2			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:108335404A>G	ENST00000361582.3	+	5	505	c.275A>G	c.(274-276)aAc>aGc	p.N92S	DZIP3_ENST00000463306.1_Missense_Mutation_p.N92S	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	92					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GTTGCAGCTAACAGCCAGAAT	0.353													G	108335404	A	G	108335404	3	3	458	1	0	0	0	0	1	0	0	0	4904	43	2	3	289	3	DZIP3	3	108335404	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08	59717374	108335404	89687026	8	43893											
WDR49	151790	broad.mit.edu	37	chr3	167322149	167322149	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctgggcaatgttgaaggAtgtcatattaagacgctttt	10	13	11	7	1	1	2	1	1	0	1	1	3	1	3	1	2	0	3	1	2	4	5			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr3:167322149A>G	ENST00000308378.3	-	2	348	c.43T>C	c.(43-45)Tcc>Ccc	p.S15P	WDR49_ENST00000479765.1_Missense_Mutation_p.S356P|WDR49_ENST00000453925.2_Missense_Mutation_p.S68P	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	15										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						ATGTTGAAGGATGTCATATTA	0.378													G	167322149	A	G	167322149	3	3	458	1	0	0	0	0	1	0	0	0	17404	333	12	3	2106	3	WDR49	3	167322149	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08	58986745	167322149	30700281	9	43894											
CCDC158	339965	broad.mit.edu	37	chr4	77290583	77290583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcaggcactgacctgcCgctccatctggccctgacac	6	8	10	17	1	1	2	0	2	1	0	2	2	2	2	4	2	2	3	4	2	0	0			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr4:77290583C>T	ENST00000388914.3	-	10	1495	c.1343G>A	c.(1342-1344)cGg>cAg	p.R448Q		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	448										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						ACTGACCTGCCGCTCCATCTG	0.512													T	77290583	C	T	77290583	3	4	458	1	0	0	0	0	1	0	0	0	2817	652	23	1	2058	1	CCDC158	4	77290583	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		77290583	113863693	10	43895											
PCDHA6	56142	broad.mit.edu	37	chr5	140207760	140207760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcctggaaggtggggagCggccagctccactactccgt	7	6	15	13	2	0	0	0	0	0	0	2	2	2	2	4	5	4	2	4	5	2	1			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr5:140207760C>T	ENST00000529310.1	+	1	198	c.84C>T	c.(82-84)agC>agT	p.S28S	PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Silent_p.S28S|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGGGGAGCGGCCAGCTCC	0.632													T	140207760	C	T	140207760	2	4	458	1	0	0	0	0	0	0	0	1	11604	767	27	1		1	PCDHA6	5	140207760	Silent	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		140207760	40707500	11	43896											
KDM1B	221656	broad.mit.edu	37	chr6	18197327	18197327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtattcctcacatcatcGtccggggtctcgtgcgtatt	7	14	9	11	4	3	0	2	0	1	0	7	0	5	0	2	2	1	2	2	2	3	4			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:18197327G>A	ENST00000388870.2	+	11	1250	c.1009G>A	c.(1009-1011)Gtc>Atc	p.V337I	KDM1B_ENST00000546309.2_Intron|KDM1B_ENST00000297792.5_Missense_Mutation_p.V205I|KDM1B_ENST00000397244.1_Missense_Mutation_p.V205I			Q8NB78	KDM1B_HUMAN	lysine (K)-specific demethylase 1B	337	SWIRM.				multicellular organismal development|regulation of DNA methylation|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-monomethyl-K4 specific)|oxidoreductase activity|zinc ion binding			breast(2)|endometrium(5)|large_intestine(6)|lung(8)|skin(3)|upper_aerodigestive_tract(1)	25						TCACATCATCGTCCGGGGTCT	0.413													A	18197327	G	A	18197327	3	1	458	1	0	0	0	0	1	0	0	0	8181	1145	40	1	639	1	KDM1B	6	18197327	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		18197327	152917740	12	43897											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324825	86324825	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccacgacctctggatggAgcagcaccccttgctcctct	6	8	9	18	1	2	0	0	0	2	0	3	3	3	2	6	2	3	3	6	2	0	1			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr6:86324825A>G	ENST00000503906.1	-	1	127	c.128T>C	c.(127-129)cTc>cCc	p.L43P	SYNCRIP_ENST00000355238.6_Silent_p.A507A|SYNCRIP_ENST00000369622.3_Silent_p.A507A																							CTCTGGATGGAGCAGCACCCC	0.542													G	86324825	A	G	86324825	3	3	458	1	0	0	0	0	1	0	0	0	15541	291	11	3	400	3	SYNCRIP	6	86324825	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08	68127498	86324825	84790242	13	43898											
SPAM1	6677	broad.mit.edu	37	chr7	123595133	123595133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaaccctcagtataatgcGaagtatggtaagttgaattg	13	11	12	5	1	1	1	1	1	0	0	1	3	1	2	1	2	2	4	1	2	7	6			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr7:123595133G>A	ENST00000340011.5	+	4	1394	c.1037G>A	c.(1036-1038)cGa>cAa	p.R346Q	SPAM1_ENST00000460182.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000402183.2_Missense_Mutation_p.R346Q|SPAM1_ENST00000439500.1_Missense_Mutation_p.R346Q|SPAM1_ENST00000223028.7_Missense_Mutation_p.R346Q	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	346					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.R346Q(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AGTATAATGCGAAGTATGGTA	0.338													A	123595133	G	A	123595133	3	1	458	1	0	0	0	0	1	0	0	0	15082	1058	37	1	1043	1	SPAM1	7	123595133	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		123595133	35543530	14	43899											
CHRNB3	1142	broad.mit.edu	37	chr8	42586901	42586901	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccctcccgccagctacaaaAgctcctgcaccatggacgtc	9	6	7	19	2	0	0	0	0	0	0	3	1	2	1	6	1	4	3	6	1	3	1			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr8:42586901A>T	ENST00000289957.2	+	5	579	c.451A>T	c.(451-453)Agc>Tgc	p.S151C		NM_000749.3	NP_000740.1	Q05901	ACHB3_HUMAN	cholinergic receptor, nicotinic, beta 3 (neuronal)	151					synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			endometrium(4)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25	all_lung(13;5.7e-12)|Lung NSC(13;1.6e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00026)|Lung NSC(58;0.000992)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	Lung(22;0.0199)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CAGCTACAAAAGCTCCTGCAC	0.532													T	42586901	A	T	42586901	3	4	458	1	0	0	0	0	1	0	0	0	3422	72	3	5	469	5	CHRNB3	8	42586901	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08		42586901	103777121	15	43900											
TBC1D2	55357	broad.mit.edu	37	chr9	101017533	101017533	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttacagtcaaacactgcActggagaggtcgatgctgtc	10	9	11	11	1	1	1	1	0	0	1	3	3	1	1	1	2	4	2	1	2	2	1			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr9:101017533A>C	ENST00000375066.5	-	1	382	c.291T>G	c.(289-291)agT>agG	p.S97R	TBC1D2_ENST00000375064.1_Missense_Mutation_p.S97R|TBC1D2_ENST00000342112.5_5'UTR	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	97	Interaction with CADH1.|PH.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CAAACACTGCACTGGAGAGGT	0.522													C	101017533	A	C	101017533	3	2	458	1	0	0	0	0	1	0	0	0	15705	156	6	5	2514	5	TBC1D2	9	101017533	Missense_Mutation	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08		101017533	40195898	16	43901											
ZNF485	220992	broad.mit.edu	37	chr10	44112009	44112009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttatgaacagttcatcccTtttaaatcaccataaggttc	12	15	4	10	0	2	1	2	1	0	0	4	1	3	1	2	1	1	2	2	1	5	7			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:44112009T>C	ENST00000361807.3	+	5	712	c.518T>C	c.(517-519)cTt>cCt	p.L173P	ZNF485_ENST00000374435.3_Missense_Mutation_p.L173P|ZNF485_ENST00000374437.2_Missense_Mutation_p.L82P	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	173					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						AGTTCATCCCTTTTAAATCAC	0.388													C	44112009	T	C	44112009	3	2	458	1	0	0	0	0	1	0	0	0	18039	1609	56	3	532	3	ZNF485	10	44112009	Missense_Mutation	SNP	T	TCGA-E1-A7YU-01A-11D-A34J-08		44112009	91422738	17	43902											
TLL2	7093	broad.mit.edu	37	chr10	98138802	98138802	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctcccgaaggtgttgaCgcactcatgctgacacccgc	8	8	11	14	3	1	2	1	2	0	0	2	3	2	2	2	1	2	5	2	1	2	2			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr10:98138802C>T	ENST00000357947.3	-	17	2467	c.2242G>A	c.(2242-2244)Gtc>Atc	p.V748I		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	748	EGF-like 2; calcium-binding (Potential).				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AAGGTGTTGACGCACTCATGC	0.552													T	98138802	C	T	98138802	3	4	458	1	0	0	0	0	1	0	0	0	16046	536	19	1	825	1	TLL2	10	98138802	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	54026793	98138802	37395945	18	43903											
LDHC	3948	broad.mit.edu	37	chr11	18456322	18456322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atatagtctggaagataagtGgcttacctgtaactcgtgta	12	13	10	6	1	1	1	0	0	1	1	2	2	1	2	1	2	2	3	1	2	7	6			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:18456322G>A	ENST00000541669.1	+	5	565	c.454G>A	c.(454-456)Ggc>Agc	p.G152S	LDHC_ENST00000546146.1_Missense_Mutation_p.G94S|LDHC_ENST00000536880.1_Missense_Mutation_p.G138S|LDHC_ENST00000544105.1_Missense_Mutation_p.G152S|LDHC_ENST00000535809.1_Missense_Mutation_p.G152S|LDHC_ENST00000537486.1_Intron|LDHC_ENST00000280704.4_Missense_Mutation_p.G152S			P07864	LDHC_HUMAN	lactate dehydrogenase C	152					glycolysis	cytoplasm	binding|L-lactate dehydrogenase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					NADH(DB00157)	GAAGATAAGTGGCTTACCTGT	0.353													A	18456322	G	A	18456322	3	1	458	1	0	0	0	0	1	0	0	0	8761	1348	47	2	468	2	LDHC	11	18456322	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		18456322	116550194	19	43904											
POLA2	23649	broad.mit.edu	37	chr11	65063367	65063367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacccgccccaagaagacaTggccattgactatgagtcgt	11	8	9	13	2	0	4	0	2	0	2	1	4	0	4	4	1	1	0	4	1	4	3			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr11:65063367T>C	ENST00000265465.3	+	17	2084	c.1553T>C	c.(1552-1554)aTg>aCg	p.M518T	POLA2_ENST00000541089.1_Missense_Mutation_p.M310T|POLA2_ENST00000534785.1_Intron	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	518					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	CAAGAAGACATGGCCATTGAC	0.547													C	65063367	T	C	65063367	3	2	458	1	0	0	0	0	1	0	0	0	12265	1464	51	3	1619	3	POLA2	11	65063367	Missense_Mutation	SNP	T	TCGA-E1-A7YU-01A-11D-A34J-08	46607045	65063367	69943149	20	43905											
CASC5	57082	broad.mit.edu	37	chr15	40913870	40913870	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaatccagatgctatgTcttctctcacagagaaaact	13	12	6	10	0	3	2	1	0	2	2	5	3	4	2	1	0	3	2	1	0	4	3			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr15:40913870T>C	ENST00000346991.5	+	11	1876	c.1486T>C	c.(1486-1488)Tct>Cct	p.S496P	CASC5_ENST00000399668.2_Missense_Mutation_p.S470P|CASC5_ENST00000527044.1_3'UTR			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	496	Interaction with BUB1 and BUB1B.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		AGATGCTATGTCTTCTCTCAC	0.338													C	40913870	T	C	40913870	3	2	458	1	0	0	0	0	1	0	0	0	2689	1667	58	3	1524	3	CASC5	15	40913870	Missense_Mutation	SNP	T	TCGA-E1-A7YU-01A-11D-A34J-08		40913870	61617522	21	43906											
MPG	4350	broad.mit.edu	37	chr16	133122	133122	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gagaccgaggcatacctgggGccagaggatgaagccgccca	11	3	15	12	2	0	3	0	1	0	2	0	6	0	4	5	4	2	1	5	4	2	1			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:133122G>T	ENST00000219431.4	+	4	618	c.387G>T	c.(385-387)ggG>ggT	p.G129G	MPG_ENST00000397817.1_Silent_p.G112G	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	129					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CATACCTGGGGCCAGAGGATG	0.622								Base excision repair (BER), DNA glycosylases					T	133122	G	T	133122	2	4	458	1	0	0	0	0	0	0	0	1	9800	1190	42	4		4	MPG	16	133122	Silent	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		133122	90221631	22	43907											
SLC12A3	6559	broad.mit.edu	37	chr16	56921912	56921912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggcagtcggctcacccgGccacagtggaagactacatt	10	7	11	13	2	1	1	1	0	0	1	2	2	1	2	2	4	1	2	2	4	2	2			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr16:56921912G>A	ENST00000438926.2	+	18	2283	c.2254G>A	c.(2254-2256)Gcc>Acc	p.A752T	SLC12A3_ENST00000566786.1_Missense_Mutation_p.A751T|SLC12A3_ENST00000563236.1_Missense_Mutation_p.A752T|SLC12A3_ENST00000262502.5_Missense_Mutation_p.A751T	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	752					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	GGCTCACCCGGCCACAGTGGA	0.577													A	56921912	G	A	56921912	3	1	458	1	0	0	0	0	1	0	0	0	14478	1203	42	2	2324	2	SLC12A3	16	56921912	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08	56788790	56921912	33432841	23	43908											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	458	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		7577094	73618116	24	43909											
PSMB3	5691	broad.mit.edu	37	chr17	36912146	36912146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacctcagtgcccagcgcCtcaagttccggctgaacctg	7	8	9	17	2	2	1	2	1	0	0	3	1	3	1	6	1	4	2	6	1	3	2			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:36912146C>T	ENST00000225426.4	+	3	290	c.199C>T	c.(199-201)Ctc>Ttc	p.L67F		NM_002795.2	NP_002786.2	P49720	PSB3_HUMAN	proteasome (prosome, macropain) subunit, beta type, 3	67					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)	4						TGCCCAGCGCCTCAAGTTCCG	0.473													T	36912146	C	T	36912146	3	4	458	1	0	0	0	0	1	0	0	0	12763	681	24	2	209	2	PSMB3	17	36912146	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	29335052	36912146	44283064	25	43910											
CALCOCO2	10241	broad.mit.edu	37	chr17	46919111	46919111	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccccacatcagctgtcttGctggatcactgtcatttctc	6	13	6	16	0	5	0	3	0	2	0	6	1	5	1	3	1	2	2	3	1	0	2			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr17:46919111G>A	ENST00000258947.3	+	2	143	c.42G>A	c.(40-42)ttG>ttA	p.L14L	CALCOCO2_ENST00000509507.1_Silent_p.L14L|CALCOCO2_ENST00000416445.2_Silent_p.L14L|CALCOCO2_ENST00000448105.2_Silent_p.L14L|CALCOCO2_ENST00000508679.1_Intron	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	14					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						CAGCTGTCTTGCTGGATCACT	0.468													A	46919111	G	A	46919111	2	1	458	1	0	0	0	0	0	0	0	1	2604	1310	46	2		2	CALCOCO2	17	46919111	Silent	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08	10006965	46919111	34276099	26	43911											
POTEC	388468	broad.mit.edu	37	chr18	14542921	14542921	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcccacgttgctcgtgccGctccccctgcagcaggggaa	5	7	13	16	3	0	0	0	0	0	0	2	1	1	1	4	2	5	5	4	2	1	1			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr18:14542921G>A	ENST00000358970.5	-	1	224	c.225C>T	c.(223-225)agC>agT	p.S75S	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	75								p.S75S(1)|p.S75R(1)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TGCTCGTGCCGCTCCCCCTGC	0.567													A	14542921	G	A	14542921	2	1	458	1	0	0	0	0	0	0	0	1	12339	1078	38	1		1	POTEC	18	14542921	Silent	SNP	G	TCGA-E1-A7YU-01A-11D-A34J-08		14542921	63534327	27	43912											
DSEL	92126	broad.mit.edu	37	chr18	65178396	65178396	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttggtttaaactagcaggAgacaaaggaattccaagaaa	18	9	9	5	0	0	2	0	0	0	2	1	4	1	3	1	3	2	2	1	3	7	5			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr18:65178396A>C	ENST00000310045.7	-	2	4953	c.3480T>G	c.(3478-3480)tcT>tcG	p.S1160S	CTD-2541J13.2_ENST00000583493.1_RNA|CTD-2541J13.2_ENST00000581951.1_RNA	NM_032160.2	NP_115536.1	Q8IZU8	DSEL_HUMAN	dermatan sulfate epimerase-like	1150						integral to membrane	isomerase activity|sulfotransferase activity			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(25)|lung(23)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)				AACTAGCAGGAGACAAAGGAA	0.378													C	65178396	A	C	65178396	2	2	458	1	0	0	0	0	0	0	0	1	4814	291	11	5		5	DSEL	18	65178396	Silent	SNP	A	TCGA-E1-A7YU-01A-11D-A34J-08	50635475	65178396	12898852	28	43913											
CC2D1A	54862	broad.mit.edu	37	chr19	14024100	14024100	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgccaagatgcggcgctaCgatcgggggcttaaagtaag	11	6	15	9	5	0	1	0	0	0	1	1	2	0	1	1	3	3	3	1	3	5	3			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:14024100C>T	ENST00000318003.7	+	5	739	c.498C>T	c.(496-498)taC>taT	p.Y166Y	CC2D1A_ENST00000589606.1_Silent_p.Y166Y	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	166					positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TGCGGCGCTACGATCGGGGGC	0.607													T	14024100	C	T	14024100	2	4	458	1	0	0	0	0	0	0	0	1	2752	547	19	1		1	CC2D1A	19	14024100	Silent	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08		14024100	45104883	29	43914											
ZNF99	7652	broad.mit.edu	37	chr19	22939575	22939575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattgttaaaagctttgcCacattcttcacatttgtagg	11	15	8	7	0	2	0	1	0	1	0	2	1	2	1	1	2	2	3	1	2	4	7			TCGA-E1-A7YU-01A-11D-A34J-08	TCGA-E1-A7YU-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d2260a1-7f2d-46b5-8225-4753867be40e	c09de9de-46ce-4b9a-b1e0-75192aa8bd44	g.chr19:22939575C>T	ENST00000397104.3	-	7	2595	c.2596G>A	c.(2596-2598)Ggc>Agc	p.G866S						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				AAAGCTTTGCCACATTCTTCA	0.348													T	22939575	C	T	22939575	3	4	458	1	0	0	0	0	1	0	0	0	18303	594	21	2	520	2	ZNF99	19	22939575	Missense_Mutation	SNP	C	TCGA-E1-A7YU-01A-11D-A34J-08	8915475	22939575	36189408	30	43915											
SPAG17	200162	broad.mit.edu	37	chr1	118558791	118558792	+	Frame_Shift_Del	DEL	TT	TT	-																															atgggccattgatgactgacTtttgtgactttttcctgtga																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:118558791_118558792delTT	ENST00000336338.5	-	29	4148_4149	c.4083_4084delAA	c.(4081-4086)aaaagtfs	p.S1362fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1362						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		GATGACTGACTTTTGTGACTTT	0.381													-	118558792	TT	-	118558791	7	5	459	1	0	1	0	1	0	0	0	0	15075	1609	56	0	2667	0	SPAG17	1	118558791	Frame_Shift_Del	DEL	TT	TCGA-E1-A7YV-01A-11D-A34J-08		118558791	130691830	1	43916											
AHCTF1	25909	broad.mit.edu	37	chr1	247013610	247013610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caattttctgatcattctgcTaggacttgttaccgtactaa	10	16	6	9	1	3	1	1	1	2	0	3	2	3	2	1	1	3	3	1	1	5	8			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr1:247013610T>C	ENST00000366508.1	-	33	5939	c.5803A>G	c.(5803-5805)Agc>Ggc	p.S1935G	AHCTF1_ENST00000326225.3_Missense_Mutation_p.S1909G|AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Missense_Mutation_p.S1900G			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1900	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			ATCATTCTGCTAGGACTTGTT	0.318													C	247013610	T	C	247013610	3	2	459	1	0	0	0	0	1	0	0	0	408	1522	53	3	1118	3	AHCTF1	1	247013610	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	128454819	247013610	2237011	2	43917											
CAPN13	92291	broad.mit.edu	37	chr2	31010026	31010026	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatatcacattggagaggcGtttttcctggagcagcttct	8	13	10	10	1	2	1	1	0	1	1	3	3	3	2	2	3	2	3	2	3	1	5			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:31010026G>A	ENST00000295055.8	-	2	342	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C	CAPN13_ENST00000465960.2_5'UTR|CAPN13_ENST00000534090.2_Missense_Mutation_p.R56C	NM_144575.2	NP_653176.2	Q6MZZ7	CAN13_HUMAN	calpain 13	56	Calpain catalytic.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(1)	30	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.155)					TTGGAGAGGCGTTTTTCCTGG	0.587													A	31010026	G	A	31010026	3	1	459	1	0	0	0	0	1	0	0	0	2652	1145	40	1	1927	1	CAPN13	2	31010026	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		31010026	212189347	3	43918											
VIT	5212	broad.mit.edu	37	chr2	37035830	37035830	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcctccagtttgtgaccaaCctcaccaaagagtttgagat	11	11	8	11	0	1	3	1	2	0	2	3	4	3	3	5	0	1	2	5	0	2	2			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:37035830C>G	ENST00000379242.3	+	15	1907	c.1605C>G	c.(1603-1605)aaC>aaG	p.N535K	VIT_ENST00000401530.1_Missense_Mutation_p.N499K|VIT_ENST00000379241.3_Missense_Mutation_p.N498K|VIT_ENST00000404084.1_Missense_Mutation_p.N472K|VIT_ENST00000389975.3_Missense_Mutation_p.N520K|VIT_ENST00000497382.1_Missense_Mutation_p.N189K	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	520	VWFA 2.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				TTGTGACCAACCTCACCAAAG	0.577													G	37035830	C	G	37035830	3	3	459	1	0	0	0	0	1	0	0	0	17273	506	18	4	1784	4	VIT	2	37035830	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	6025804	37035830	206163543	4	43919											
CCDC88A	55704	broad.mit.edu	37	chr2	55561312	55561312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttctagttctttcagaCggacacaagattctttatat	10	18	5	8	1	4	2	1	0	3	2	4	3	4	3	0	1	0	1	0	1	4	9			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:55561312C>T	ENST00000436346.1	-	15	3486	c.2645G>A	c.(2644-2646)cGt>cAt	p.R882H	AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.R882H|CCDC88A_ENST00000413716.2_Missense_Mutation_p.R882H|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.R882H|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000599352.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	882					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TTCTTTCAGACGGACACAAGA	0.303													T	55561312	C	T	55561312	3	4	459	1	0	0	0	0	1	0	0	0	2891	536	19	1	3042	1	CCDC88A	2	55561312	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	18525482	55561312	187638061	5	43920											
TTN	7273	broad.mit.edu	37	chr2	179419627	179419627	+	Frame_Shift_Del	DEL	C	C	-																															tgatggtggctgaggctgagCccatggcattccttagtttt																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:179419627delC	ENST00000589042.1	-	331	88783	c.88559delG	c.(88558-88560)ggcfs	p.G29520fs	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.G20580fs|TTN_ENST00000460472.2_Frame_Shift_Del_p.G20455fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.G20647fs|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.G27879fs|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.G26952fs|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27879	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAGGCTGAGCCCATGGCATT	0.423													-	179419627	C	-	179419627	7	5	459	1	0	1	0	1	0	0	0	0	16837	739	26	0	19548	0	TTN	2	179419627	Frame_Shift_Del	DEL	C	TCGA-E1-A7YV-01A-11D-A34J-08	123858315	179419627	63779746	6	43921											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	459	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	29693485	209113112	34086261	7	43922											
TRANK1	9881	broad.mit.edu	37	chr3	36879945	36879945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagggacagtgttggctctTtgcactccaaataggtctta	10	13	10	8	0	2	0	0	0	2	0	3	1	3	1	1	3	1	3	1	3	4	5			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:36879945T>C	ENST00000429976.2	-	19	5550	c.5303A>G	c.(5302-5304)aAa>aGa	p.K1768R	TRANK1_ENST00000428977.2_Missense_Mutation_p.K1218R|TRANK1_ENST00000301807.6_Missense_Mutation_p.K1218R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1768					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TGTTGGCTCTTTGCACTCCAA	0.483													C	36879945	T	C	36879945	3	2	459	1	0	0	0	0	1	0	0	0	16555	1841	64	3	3494	3	TRANK1	3	36879945	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		36879945	161142485	8	43923											
TBL1XR1	79718	broad.mit.edu	37	chr3	176752004	176752004	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accttgctaacataaggttgGcatttggattattagtccct	10	15	8	8	0	0	0	0	0	0	0	1	1	1	1	2	3	2	3	2	3	4	7			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr3:176752004G>C	ENST00000430069.1	-	13	1491	c.1232C>G	c.(1231-1233)gCc>gGc	p.A411G	TBL1XR1_ENST00000457928.2_Missense_Mutation_p.A411G			Q9BZK7	TBL1R_HUMAN	transducin (beta)-like 1 X-linked receptor 1	411					canonical Wnt receptor signaling pathway|cellular lipid metabolic process|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|proteasomal ubiquitin-dependent protein catabolic process|transcription, DNA-dependent	spindle microtubule|transcriptional repressor complex	beta-catenin binding|histone binding|protein N-terminus binding|transcription corepressor activity|transcription regulatory region DNA binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(7)|liver(1)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31	all_cancers(143;1.44e-17)|Ovarian(172;0.00163)|Breast(254;0.214)	Acute lymphoblastic leukemia(1;0.00599)|all_hematologic(1;0.0632)|Prostate(884;0.215)	OV - Ovarian serous cystadenocarcinoma(80;9.83e-31)			CATAAGGTTGGCATTTGGATT	0.343													C	176752004	G	C	176752004	3	2	459	1	0	0	0	0	1	0	0	0	15740	1203	42	4	328	4	TBL1XR1	3	176752004	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	139872059	176752004	21270426	9	43924											
UGT2B4	7363	broad.mit.edu	37	chr4	70355278	70355278	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagagctctggacaaacTcttccatttcctgtgaaaaa	12	11	6	12	0	2	2	0	1	2	1	5	3	5	3	3	1	2	1	3	1	3	2			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:70355278T>A	ENST00000305107.6	-	3	927	c.881A>T	c.(880-882)gAg>gTg	p.E294V	UGT2B4_ENST00000381096.3_Missense_Mutation_p.E158V|UGT2B4_ENST00000512583.1_Missense_Mutation_p.E294V|UGT2B4_ENST00000506580.1_5'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	294					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CTGGACAAACTCTTCCATTTC	0.383													A	70355278	T	A	70355278	3	1	459	1	0	0	0	0	1	0	0	0	17063	1551	54	5	721	5	UGT2B4	4	70355278	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		70355278	120798998	10	43925											
AFM	173	broad.mit.edu	37	chr4	74351580	74351580	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttctctgttgtatagaAtaatgttttacaggaaaaaa	14	17	6	4	0	2	1	0	0	2	1	3	2	2	2	0	1	1	3	0	1	8	8			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:74351580A>T	ENST00000226355.3	+	4	365	c.272A>T	c.(271-273)aAt>aTt	p.N91I		NM_001133.2	NP_001124.1	P43652	AFAM_HUMAN	afamin	91	Albumin 1.				vitamin transport		vitamin E binding			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	Breast(15;0.00102)		Epithelial(6;5.69e-05)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|all cancers(17;0.000555)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GTTGTATAGAATAATGTTTTA	0.368													T	74351580	A	T	74351580	5	4	459	1	0	0	0	0	0	0	1	0	361	115	4	5	286	5	AFM	4	74351580	Splice_Site	SNP	A	TCGA-E1-A7YV-01A-11D-A34J-08	3996302	74351580	116802696	11	43926											
TRIML1	339976	broad.mit.edu	37	chr4	189060990	189060990	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagagcgaggatgagcaggGcagctacgggaggatgccca	11	3	18	9	2	0	2	0	1	0	1	0	6	0	5	1	4	5	4	1	4	1	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr4:189060990G>T	ENST00000332517.3	+	1	418	c.278G>T	c.(277-279)gGc>gTc	p.G93V		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	93					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GATGAGCAGGGCAGCTACGGG	0.642													T	189060990	G	T	189060990	3	4	459	1	0	0	0	0	1	0	0	0	16651	1203	42	4	280	4	TRIML1	4	189060990	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	114709410	189060990	2093286	12	43927											
HCN1	348980	broad.mit.edu	37	chr5	45645301	45645301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttacctcttcccattgatGtatgtatctaattaaccttg	9	18	4	10	0	3	1	0	1	3	0	4	1	4	1	3	0	2	2	3	0	5	8			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:45645301G>A	ENST00000303230.4	-	2	892	c.835C>T	c.(835-837)Cat>Tat	p.H279Y		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	279						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCCCATTGATGTATGTATCTA	0.333													A	45645301	G	A	45645301	3	1	459	1	0	0	0	0	1	0	0	0	7051	1377	48	2	1865	2	HCN1	5	45645301	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		45645301	135269959	13	43928											
PAM	5066	broad.mit.edu	37	chr5	102295742	102295742	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtgaagtctgatatggttAtgatgcatgaacatcataaa	14	12	9	6	1	2	4	1	4	1	0	2	4	2	4	1	1	2	2	1	1	6	3			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr5:102295742A>C	ENST00000438793.3	+	12	1539	c.1069A>C	c.(1069-1071)Atg>Ctg	p.M357L	PAM_ENST00000348126.2_Missense_Mutation_p.M357L|PAM_ENST00000379787.4_5'UTR|PAM_ENST00000346918.2_Missense_Mutation_p.M357L|PAM_ENST00000304400.7_Missense_Mutation_p.M357L|PAM_ENST00000274392.9_Missense_Mutation_p.M260L|PAM_ENST00000455264.2_Missense_Mutation_p.M357L	NM_000919.3|NM_001177306.1|NM_138766.2	NP_000910.2|NP_001170777.1|NP_620121.1	P19021	AMD_HUMAN	peptidylglycine alpha-amidating monooxygenase	357	Peptidylglycine alpha-hydroxylating monooxygenase (By similarity).				peptide metabolic process|protein modification process	extracellular region|integral to membrane|stored secretory granule	L-ascorbic acid binding|peptidylamidoglycolate lyase activity|peptidylglycine monooxygenase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	25		all_cancers(142;3.12e-07)|all_epithelial(76;3.48e-10)|Prostate(80;0.00914)|Lung NSC(167;0.0213)|Ovarian(225;0.024)|Colorectal(57;0.0251)|all_lung(232;0.0284)		Epithelial(69;1.1e-13)|COAD - Colon adenocarcinoma(37;0.0127)	Vitamin C(DB00126)	TGATATGGTTATGATGCATGA	0.313													C	102295742	A	C	102295742	3	2	459	1	0	0	0	0	1	0	0	0	11488	449	16	5	1115	5	PAM	5	102295742	Missense_Mutation	SNP	A	TCGA-E1-A7YV-01A-11D-A34J-08	56650441	102295742	78619518	14	43929											
SYCP2L	221711	broad.mit.edu	37	chr6	10930655	10930655	+	Frame_Shift_Del	DEL	C	C	-																															gagtaatcaagattcaagtaCcagtgaactatcttggacca																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:10930655delC	ENST00000283141.6	+	19	1837	c.1541delC	c.(1540-1542)accfs	p.T514fs	SYCP2L_ENST00000543878.1_3'UTR|RP11-637O19.3_ENST00000480294.1_3'UTR	NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	514						nucleus		p.T514N(1)		breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GATTCAAGTACCAGTGAACTA	0.358													-	10930655	C	-	10930655	7	5	459	1	0	1	0	1	0	0	0	0	15530	507	18	0	1615	0	SYCP2L	6	10930655	Frame_Shift_Del	DEL	C	TCGA-E1-A7YV-01A-11D-A34J-08		10930655	160184412	15	43930											
FAM83B	222584	broad.mit.edu	37	chr6	54805986	54805986	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actactaccaaatcagtttcCattgctgctttacttgatgt	10	16	5	10	0	1	1	1	1	0	0	2	1	2	1	2	0	5	3	2	0	4	7			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:54805986C>A	ENST00000306858.7	+	5	2333	c.2217C>A	c.(2215-2217)tcC>tcA	p.S739S		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	739										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AATCAGTTTCCATTGCTGCTT	0.403													A	54805986	C	A	54805986	2	1	459	1	0	0	0	0	0	0	0	1	5684	581	21	4		4	FAM83B	6	54805986	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	43875331	54805986	116309081	16	43931											
LMBRD1	55788	broad.mit.edu	37	chr6	70500318	70500318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacaacttcactttcccgcCgactttggtatttacgaaca	11	12	6	12	3	1	1	1	0	0	1	2	3	2	1	2	1	3	1	2	1	4	6			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:70500318C>T	ENST00000370577.3	-	2	345	c.116G>A	c.(115-117)cGg>cAg	p.R39Q	LMBRD1_ENST00000370570.1_5'UTR	NM_018368.3	NP_060838.3	Q9NUN5	LMBD1_HUMAN	LMBR1 domain containing 1	39					interspecies interaction between organisms|transport	integral to membrane|lysosomal membrane	cobalamin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	31						ACTTTCCCGCCGACTTTGGTA	0.368													T	70500318	C	T	70500318	3	4	459	1	0	0	0	0	1	0	0	0	8903	652	23	1	1566	1	LMBRD1	6	70500318	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	15694332	70500318	100614749	17	43932											
RIMS1	22999	broad.mit.edu	37	chr6	72889334	72889334	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaaatcttaaccaaatctggGgcatggttctttggaagtgg	11	12	12	6	0	3	0	0	0	3	0	3	2	3	1	1	5	1	2	1	5	4	3			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:72889334G>C	ENST00000264839.7	+	5	528	c.528G>C	c.(526-528)ggG>ggC	p.G176G	RIMS1_ENST00000522291.1_Silent_p.G176G|RIMS1_ENST00000520567.1_Silent_p.G176G|RIMS1_ENST00000518273.1_Silent_p.G176G|RIMS1_ENST00000491071.2_Silent_p.G176G|RIMS1_ENST00000521978.1_Silent_p.G176G|RIMS1_ENST00000517960.1_Silent_p.G176G|RIMS1_ENST00000348717.5_Silent_p.G176G			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	176	RabBD.				calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				CCAAATCTGGGGCATGGTTCT	0.418													C	72889334	G	C	72889334	2	2	459	1	0	0	0	0	0	0	0	1	13458	1219	43	4		4	RIMS1	6	72889334	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	2389016	72889334	98225733	18	43933											
ROS1	6098	broad.mit.edu	37	chr6	117642501	117642501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caactctttgtcttcgtttaTaagcactgtcaccccttcct	7	16	4	14	1	3	0	1	0	2	0	5	0	4	0	3	0	2	2	3	0	3	6			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr6:117642501T>C	ENST00000368508.3	-	35	5896	c.5698A>G	c.(5698-5700)Ata>Gta	p.I1900V	ROS1_ENST00000368507.3_Missense_Mutation_p.I1894V|GOPC_ENST00000467125.1_5'UTR	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1900					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCTTCGTTTATAAGCACTGTC	0.408			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								C	117642501	T	C	117642501	3	2	459	1	0	0	0	0	1	0	0	0	13622	1406	49	3	1381	3	ROS1	6	117642501	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	44753167	117642501	53472566	19	43934											
DFNA5	1687	broad.mit.edu	37	chr7	24784276	24784276	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgcggctgctgcccccCaggttcagcttgaccttccc	4	10	9	18	2	2	1	1	1	1	0	3	1	3	1	5	2	4	4	5	2	1	4			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:24784276C>A	ENST00000342947.3	-	3	734	c.309G>T	c.(307-309)ctG>ctT	p.L103L	DFNA5_ENST00000409775.3_Silent_p.L103L|DFNA5_ENST00000545231.1_5'UTR|DFNA5_ENST00000419307.1_5'UTR|DFNA5_ENST00000409970.1_5'UTR	NM_004403.2	NP_004394.1	O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	103					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						TGCTGCCCCCCAGGTTCAGCT	0.562													A	24784276	C	A	24784276	2	1	459	1	0	0	0	0	0	0	0	1	4493	581	21	4		4	DFNA5	7	24784276	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		24784276	134354387	20	43935											
SRCRB4D	136853	broad.mit.edu	37	chr7	76033640	76033640	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccagtggcaggaggagAaggaaagacagggcttgggg	12	4	18	7	0	1	2	1	0	0	2	1	5	1	4	1	7	0	2	1	7	2	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:76033640A>T	ENST00000275560.3	-	2	464	c.117T>A	c.(115-117)ctT>ctA	p.L39L	ZP3_ENST00000336517.4_Intron	NM_080744.1	NP_542782.1	Q8WTU2	SRB4D_HUMAN	scavenger receptor cysteine rich domain containing, group B (4 domains)	39						extracellular region|membrane	scavenger receptor activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(9)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	21						GCAGGAGGAGAAGGAAAGACA	0.567													T	76033640	A	T	76033640	2	4	459	1	0	0	0	0	0	0	0	1	15233	233	9	5		5	SRCRB4D	7	76033640	Silent	SNP	A	TCGA-E1-A7YV-01A-11D-A34J-08	51249364	76033640	83105023	21	43936											
GPR37	2861	broad.mit.edu	37	chr7	124387196	124387196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggagctcggccactaaaccCcaaatcctccttgctcagct	9	8	7	17	2	1	0	1	0	0	0	4	1	3	1	5	2	4	3	5	2	3	2			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:124387196C>T	ENST00000303921.2	-	2	1875	c.1225G>A	c.(1225-1227)Ggg>Agg	p.G409R		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	409						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTAAACCCCAAATCCTCC	0.493													T	124387196	C	T	124387196	3	4	459	1	0	0	0	0	1	0	0	0	6745	623	22	2	620	2	GPR37	7	124387196	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	48353556	124387196	34751467	22	43937											
FASTK	10922	broad.mit.edu	37	chr7	150775729	150775729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctcccgcaaccggtgccGggccaggtgctgggccagga	5	4	18	14	3	0	0	0	0	0	0	1	1	1	1	5	6	3	3	5	6	1	0			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr7:150775729G>A	ENST00000297532.6	-	4	822	c.745C>T	c.(745-747)Cgg>Tgg	p.R249W	FASTK_ENST00000353841.2_Missense_Mutation_p.R108W|FASTK_ENST00000489884.1_5'UTR|FASTK_ENST00000482571.1_Missense_Mutation_p.R222W|FASTK_ENST00000540185.1_Intron	NM_006712.4	NP_006703.1	Q14296	FASTK_HUMAN	Fas-activated serine/threonine kinase	249					apoptosis|induction of apoptosis by extracellular signals|regulation of RNA splicing		ATP binding|Fas-activated serine/threonine kinase activity|protein binding			lung(4)|stomach(2)	6			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)|LUSC - Lung squamous cell carcinoma(290;0.0718)|Lung(243;0.138)		AACCGGTGCCGGGCCAGGTGC	0.647													A	150775729	G	A	150775729	3	1	459	1	0	0	0	0	1	0	0	0	5733	1115	39	1	932	1	FASTK	7	150775729	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	26388533	150775729	8362934	23	43938											
CSMD3	114788	broad.mit.edu	37	chr8	114031311	114031311	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tataccttgatagggagcacTaaatccacggtatcgatgat	13	11	9	8	2	0	2	0	2	0	0	2	4	1	3	2	2	2	2	2	2	6	6			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr8:114031311T>C	ENST00000297405.5	-	6	1259	c.1015A>G	c.(1015-1017)Agt>Ggt	p.S339G	CSMD3_ENST00000455883.2_Missense_Mutation_p.S339G|CSMD3_ENST00000352409.3_Missense_Mutation_p.S339G|CSMD3_ENST00000343508.3_Missense_Mutation_p.S299G	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	339	CUB 2.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TAGGGAGCACTAAATCCACGG	0.358										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	114031311	T	C	114031311	3	2	459	1	0	0	0	0	1	0	0	0	3979	1522	53	3	10372	3	CSMD3	8	114031311	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		114031311	32332711	24	43939											
KIAA0020	9933	broad.mit.edu	37	chr9	2837296	2837296	+	Frame_Shift_Del	DEL	T	T	-																															tcttgaactgctttacacccTttttcccaagttttgtgata																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:2837296delT	ENST00000397885.2	-	3	394	c.188delA	c.(187-189)aagfs	p.K63fs		NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	63						endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		CTTTACACCCTTTTTCCCAAG	0.388													-	2837296	T	-	2837296	7	5	459	1	0	1	0	1	0	0	0	0	8210	1609	56	0	1822	0	KIAA0020	9	2837296	Frame_Shift_Del	DEL	T	TCGA-E1-A7YV-01A-11D-A34J-08		2837296	138376135	25	43940											
TLE4	7091	broad.mit.edu	37	chr9	82187749	82187749	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacccgcagaccagacaccCagtgagtgcgggcggcgggg	8	3	17	13	4	0	3	0	1	0	2	0	3	0	3	3	4	2	2	3	4	1	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:82187749C>A	ENST00000376520.4	+	1	872	c.44C>A	c.(43-45)cCa>cAa	p.P15Q	TLE4_ENST00000376534.4_5'UTR|TLE4_ENST00000376552.2_Splice_Site_p.P15Q|TLE4_ENST00000265284.6_Splice_Site_p.P15Q|TLE4_ENST00000376544.3_Splice_Site_p.P15Q|TLE4_ENST00000376537.4_Splice_Site_p.P15Q	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						ACCAGACACCCAGTGAGTgcg	0.672													A	82187749	C	A	82187749	5	1	459	1	0	0	0	0	0	0	1	0	16041	608	21	4	46	4	TLE4	9	82187749	Splice_Site	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	79350453	82187749	59025682	26	43941											
NUP188	23511	broad.mit.edu	37	chr9	131741572	131741572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacagcatgtgaagtattggCcgacccttctcttccggaac	9	11	9	12	2	1	1	0	1	1	0	3	3	2	2	3	2	3	2	3	2	4	5			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:131741572C>T	ENST00000372577.2	+	13	1256	c.1235C>T	c.(1234-1236)gCc>gTc	p.A412V		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	412					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GAAGTATTGGCCGACCCTTCT	0.388													T	131741572	C	T	131741572	3	4	459	1	0	0	0	0	1	0	0	0	10834	739	26	2	1285	2	NUP188	9	131741572	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	49553823	131741572	9471859	27	43942											
COL5A1	1289	broad.mit.edu	37	chr9	137712051	137712051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccccagggctcctcCggtcctaagggagaacaggt	7	6	13	15	1	0	1	0	0	0	1	3	2	3	1	6	5	1	1	6	5	2	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:137712051C>T	ENST00000371817.3	+	58	4950	c.4536C>T	c.(4534-4536)tcC>tcT	p.S1512S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1512	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		AGGGCTCCTCCGGTCCTAAGG	0.632													T	137712051	C	T	137712051	2	4	459	1	0	0	0	0	0	0	0	1	3727	639	23	1		1	COL5A1	9	137712051	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	5970479	137712051	3501380	28	43943											
TRAF2	7186	broad.mit.edu	37	chr9	139793219	139793219	+	Frame_Shift_Del	DEL	T	T	-																															gcagctagcgtgacccccccTggctccctggagttgctaca																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr9:139793219delT	ENST00000359662.3	+	2	72	c.27delT	c.(25-27)cctfs	p.P9fs	TRAF2_ENST00000536468.1_Frame_Shift_Del_p.P9fs|TRAF2_ENST00000247668.2_Frame_Shift_Del_p.P9fs			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	9					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		TGACCCCCCCTGGCTCCCTGG	0.597													-	139793219	T	-	139793219	7	5	459	1	0	1	0	1	0	0	0	0	16539	1567	55	0	29	0	TRAF2	9	139793219	Frame_Shift_Del	DEL	T	TCGA-E1-A7YV-01A-11D-A34J-08	2081168	139793219	1420212	29	43944											
ZNF488	118738	broad.mit.edu	37	chr10	48371440	48371440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccacaaaaaggagcatgCggggcctgacccacattctc	12	5	9	15	1	1	1	0	1	1	0	2	2	1	2	4	3	2	1	4	3	2	1	rs78202445		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr10:48371440C>T	ENST00000395702.2	+	2	1135	c.908C>T	c.(907-909)gCg>gTg	p.A303V	ZNF488_ENST00000586537.1_Missense_Mutation_p.A196V|ZNF488_ENST00000494156.1_3'UTR			Q96MN9	ZN488_HUMAN	zinc finger protein 488	303					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|ovary(2)	14						AAGGAGCATGCGGGGCCTGAC	0.602													T	48371440	C	T	48371440	3	4	459	1	0	0	0	0	1	0	0	0	18041	768	27	1	910	1	ZNF488	10	48371440	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		48371440	87163307	30	43945											
HBG2	3048	broad.mit.edu	37	chr11	5274540	5274540	+	Silent	SNP	T	T	C																															gaggacagggcactggccacTccagtcaccatcttctgcca																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274540T>C	ENST00000380259.2	-	8	1651	c.411A>G	c.(409-411)ggA>ggG	p.G137G	HBG2_ENST00000380252.1_Silent_p.G127G|HBG2_ENST00000336906.4_Silent_p.G137G					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACTGGCCACTCCAGTCACCA	0.498													C	5274540	T	C	5274540	2	2	459	1	0	0	0	0	0	0	0	1	7038	1538	54	3		3	HBG2	11	5274540	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		5274540	129731976	31	43946	144	2									
HBG2	3048	broad.mit.edu	37	chr11	5274542	5274542	+	Nonsense_Mutation	SNP	C	C	A																															ggacagggcactggccactcCagtcaccatcttctgccagg																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:5274542C>A	ENST00000380259.2	-	8	1649	c.409G>T	c.(409-411)Gga>Tga	p.G137*	HBG2_ENST00000380252.1_Nonsense_Mutation_p.G127*|HBG2_ENST00000336906.4_Nonsense_Mutation_p.G137*					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGCCACTCCAGTCACCATC	0.498													A	5274542	C	A	5274542	4	1	459	1	0	0	0	0	0	1	0	0	7038	603	21	4	38	4	HBG2	11	5274542	Nonsense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	2	5274542	129731974	32	43947	144	2									
NEU3	10825	broad.mit.edu	37	chr11	74717144	74717144	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacataggtgccaggactcTagcagcaaagatgcacccac	13	5	9	14	0	1	1	0	0	1	1	1	2	1	2	3	2	4	3	3	2	3	2			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr11:74717144T>A	ENST00000294064.4	+	3	1920	c.993T>A	c.(991-993)tcT>tcA	p.S331S	NEU3_ENST00000545272.1_Silent_p.S222S|NEU3_ENST00000531509.1_Silent_p.S331S|NEU3_ENST00000529024.1_Intron|NEU3_ENST00000544263.1_Silent_p.S298S|NEU3_ENST00000532963.1_3'UTR	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	331										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCCAGGACTCTAGCAGCAAAG	0.572													A	74717144	T	A	74717144	2	1	459	1	0	0	0	0	0	0	0	1	10419	1509	53	5		5	NEU3	11	74717144	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	69442602	74717144	60289372	33	43948											
GOLGA3	2802	broad.mit.edu	37	chr12	133358906	133358906	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttcaactggactaggtcTgcctccctcttggccaaagc	8	10	10	13	0	3	0	1	0	2	0	4	1	4	1	3	4	3	1	3	4	3	3			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr12:133358906T>C	ENST00000204726.3	-	17	3999	c.3441A>G	c.(3439-3441)gcA>gcG	p.A1147A	GOLGA3_ENST00000456883.2_Silent_p.A1147A|GOLGA3_ENST00000450791.2_Silent_p.A1147A	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1147					intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GGACTAGGTCTGCCTCCCTCT	0.547													C	133358906	T	C	133358906	2	2	459	1	0	0	0	0	0	0	0	1	6610	1567	55	3		3	GOLGA3	12	133358906	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08		133358906	492989	34	43949											
PLCB2	5330	broad.mit.edu	37	chr15	40594679	40594679	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggcacaccttgcccacGttctccttgtaggagacgaa	8	9	9	15	2	1	1	0	0	1	1	2	3	1	1	4	2	1	3	4	2	2	4			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr15:40594679G>A	ENST00000260402.3	-	4	612	c.363C>T	c.(361-363)aaC>aaT	p.N121N	PLCB2_ENST00000557821.1_Silent_p.N121N|PLCB2_ENST00000543785.2_Silent_p.N121N|PLCB2_ENST00000456256.2_Silent_p.N121N	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	121					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CCTTGCCCACGTTCTCCTTGT	0.612													A	40594679	G	A	40594679	2	1	459	1	0	0	0	0	0	0	0	1	12105	1136	40	1		1	PLCB2	15	40594679	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		40594679	61936713	35	43950											
SCNN1G	6340	broad.mit.edu	37	chr16	23197657	23197657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgtgacgggccctcaggCgccgaccattaaagagctga	9	5	13	14	4	1	3	1	2	0	1	1	4	1	3	4	2	1	1	4	2	2	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr16:23197657C>A	ENST00000300061.2	+	2	208	c.65C>A	c.(64-66)gCg>gAg	p.A22E		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	22					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCCCTCAGGCGCCGACCATT	0.612													A	23197657	C	A	23197657	3	1	459	1	0	0	0	0	1	0	0	0	14023	768	27	4	67	4	SCNN1G	16	23197657	Missense_Mutation	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		23197657	67157096	36	43951											
COASY	80347	broad.mit.edu	37	chr17	40714771	40714771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatgttcacctgcagccggGcatgagcctggagggcccgg	6	7	15	13	2	1	1	1	1	0	0	1	2	1	2	4	4	3	3	4	4	1	2			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:40714771G>A	ENST00000393818.2	+	1	587	c.131G>A	c.(130-132)gGc>gAc	p.G44D	COASY_ENST00000449624.1_Intron|COASY_ENST00000421097.2_Missense_Mutation_p.G44D|COASY_ENST00000590958.1_Missense_Mutation_p.G73D|COASY_ENST00000420359.1_Missense_Mutation_p.G44D	NM_025233.6	NP_079509.5	Q13057	COASY_HUMAN	CoA synthase	44					coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial outer membrane	ATP binding|dephospho-CoA kinase activity|pantetheine-phosphate adenylyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)	21		all_cancers(22;1.06e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)		CTGCAGCCGGGCATGAGCCTG	0.662													A	40714771	G	A	40714771	3	1	459	1	0	0	0	0	1	0	0	0	3683	1203	42	2	224	2	COASY	17	40714771	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		40714771	40480439	37	43952											
ABCA5	23461	broad.mit.edu	37	chr17	67249984	67249984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacagtcttctgaagatgtTcttttaaatcaagtgcatgt	11	17	7	6	0	4	2	1	1	3	1	4	2	4	2	0	0	2	2	0	0	5	5			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr17:67249984T>C	ENST00000392676.3	-	33	4335	c.4271A>G	c.(4270-4272)gAa>gGa	p.E1424G	ABCA5_ENST00000392677.2_Missense_Mutation_p.E1425G|ABCA5_ENST00000588877.1_Missense_Mutation_p.E1424G			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	1424	ABC transporter 2.				cholesterol efflux|high-density lipoprotein particle remodeling|negative regulation of macrophage derived foam cell differentiation	Golgi membrane|integral to membrane|late endosome membrane|lysosomal membrane	ATP binding|ATPase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)					CTGAAGATGTTCTTTTAAATC	0.318													C	67249984	T	C	67249984	3	2	459	1	0	0	0	0	1	0	0	0	35	1783	62	3	685	3	ABCA5	17	67249984	Missense_Mutation	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	26535213	67249984	13945226	38	43953											
PRR22	163154	broad.mit.edu	37	chr19	5783642	5783642	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtaggcgtctgggggcaGtgtgggctctgcaggcagcg	4	8	20	9	2	2	0	0	0	2	0	2	0	2	0	0	5	2	6	0	5	1	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:5783642G>A	ENST00000419421.2	-	3	720	c.616C>T	c.(616-618)Ctg>Ttg	p.L206L		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	204	Pro-rich.									endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						TCTGGGGGCAGTGTGGGCTCT	0.706													A	5783642	G	A	5783642	2	1	459	1	0	0	0	0	0	0	0	1	12679	1020	36	2		2	PRR22	19	5783642	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		5783642	53345341	39	43954											
PNPLA6	10908	broad.mit.edu	37	chr19	7614924	7614924	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctggcggtgctcactggCgaacctctcatcttcacact	7	10	9	15	2	4	0	3	0	2	0	5	1	4	0	1	3	3	2	1	3	1	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:7614924C>A	ENST00000221249.6	+	17	2054	c.1623C>A	c.(1621-1623)ggC>ggA	p.G541G	PNPLA6_ENST00000414982.3_Silent_p.G589G|PNPLA6_ENST00000600737.1_Silent_p.G580G|PNPLA6_ENST00000545201.2_Silent_p.G515G|PNPLA6_ENST00000594864.1_3'UTR|PNPLA6_ENST00000450331.3_Silent_p.G541G	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	580					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						TGCTCACTGGCGAACCTCTCA	0.612													A	7614924	C	A	7614924	2	1	459	1	0	0	0	0	0	0	0	1	12246	755	27	4		4	PNPLA6	19	7614924	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	1831282	7614924	51514059	40	43955											
OR10H5	284433	broad.mit.edu	37	chr19	15905375	15905375	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgccttctgtggacacaagGagatccaccatttcttctgc	8	12	8	13	1	3	1	0	0	3	1	5	3	4	2	3	2	1	0	3	2	1	3			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:15905375G>T	ENST00000308940.8	+	1	615	c.517G>T	c.(517-519)Gag>Tag	p.E173*		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	173					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TGGACACAAGGAGATCCACCA	0.602													T	15905375	G	T	15905375	4	4	459	1	0	0	0	0	0	1	0	0	10985	1175	41	4	519	4	OR10H5	19	15905375	Nonsense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	8290451	15905375	43223608	41	43956											
ZNF43	7594	broad.mit.edu	37	chr19	21991522	21991522	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttatgtttagtaagggtTgagggccagttaaaggcttt	9	15	13	4	0	0	1	0	1	0	0	0	1	0	1	1	3	0	6	1	3	5	7			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:21991522T>A	ENST00000594012.1	-	7	1813	c.1299A>T	c.(1297-1299)tcA>tcT	p.S433S	ZNF43_ENST00000595461.1_Silent_p.S433S|ZNF43_ENST00000598381.1_Silent_p.S433S|ZNF43_ENST00000354959.4_Silent_p.S439S	NM_001256649.1|NM_001256651.1|NM_001256653.1|NM_001256654.1	NP_001243578.1|NP_001243580.1|NP_001243582.1|NP_001243583.1	P17038	ZNF43_HUMAN	zinc finger protein 43	439					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	51		Renal(1328;0.000219)|Hepatocellular(1079;0.121)		GBM - Glioblastoma multiforme(1328;5.97e-05)|STAD - Stomach adenocarcinoma(1328;0.0127)		TAGTAAGGGTTGAGGGCCAGT	0.388													A	21991522	T	A	21991522	2	1	459	1	0	0	0	0	0	0	0	1	18004	1799	63	5		5	ZNF43	19	21991522	Silent	SNP	T	TCGA-E1-A7YV-01A-11D-A34J-08	6086147	21991522	37137461	42	43957											
NAPSA	9476	broad.mit.edu	37	chr19	50861856	50861856	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctccccatccgaggtccGctccgcgagtgcgagcgcgc	4	7	12	18	7	1	0	0	0	1	0	6	3	5	0	5	1	2	1	5	1	0	0			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr19:50861856G>A	ENST00000253719.2	-	9	1425	c.1217C>T	c.(1216-1218)gCg>gTg	p.A406V	NR1H2_ENST00000600978.1_Intron|NR1H2_ENST00000542413.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	406					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		TCCGAGGTCCGCTCCGCGAGT	0.697													A	50861856	G	A	50861856	3	1	459	1	0	0	0	0	1	0	0	0	10242	1087	38	1	49	1	NAPSA	19	50861856	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	28870334	50861856	8267127	43	43958											
CLTCL1	8218	broad.mit.edu	37	chr22	19175592	19175592	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtaaggcttcaccaggggCagctgacctgcctgacaagt	10	7	13	11	0	1	2	1	2	0	0	1	2	1	2	3	4	2	4	3	4	2	2	rs35864408		TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:19175592C>A	ENST00000263200.10	-	28	4407	c.4335G>T	c.(4333-4335)ctG>ctT	p.L1445L	CLTCL1_ENST00000427926.1_Silent_p.L1445L|CLTCL1_ENST00000353891.5_Silent_p.L1445L|CLTCL1_ENST00000442042.2_Intron	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	1445	Heavy chain arm.|Involved in binding clathrin light chain (By similarity).|Proximal segment.				anatomical structure morphogenesis|intracellular protein transport|mitosis|positive regulation of glucose import|receptor-mediated endocytosis	clathrin coat of coated pit|clathrin coat of trans-Golgi network vesicle|spindle|trans-Golgi network	protein binding|signal transducer activity|structural molecule activity			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					TCACCAGGGGCAGCTGACCTG	0.582			T	?	ALCL								A	19175592	C	A	19175592	2	1	459	1	0	0	0	0	0	0	0	1	3598	697	25	4		4	CLTCL1	22	19175592	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08		19175592	32128974	44	43959											
MEI1	150365	broad.mit.edu	37	chr22	42114206	42114206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgctttcaggacacttccgtGagaagctttttcccctcttc	6	15	7	13	1	2	1	1	1	1	1	5	3	4	2	3	1	2	2	3	1	1	5			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:42114206G>A	ENST00000401548.3	+	6	701	c.661G>A	c.(661-663)Gag>Aag	p.E221K	MEI1_ENST00000400107.1_5'UTR|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540833.1_5'UTR	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	221							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ACACTTCCGTGAGAAGCTTTT	0.493													A	42114206	G	A	42114206	3	1	459	1	0	0	0	0	1	0	0	0	9540	1291	45	2	683	2	MEI1	22	42114206	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	22938614	42114206	9190360	45	43960											
ZBED4	9889	broad.mit.edu	37	chr22	50278743	50278743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcctcaaggccgagtgtcGgtactgcggctgtgccatca	7	8	13	13	3	2	0	2	0	0	0	3	1	2	0	3	3	4	2	3	3	2	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chr22:50278743G>A	ENST00000216268.5	+	2	1910	c.1433G>A	c.(1432-1434)cGg>cAg	p.R478Q		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4							cytoplasm|nucleus	DNA binding|metal ion binding|protein dimerization activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		GCCGAGTGTCGGTACTGCGGC	0.582													A	50278743	G	A	50278743	3	1	459	1	0	0	0	0	1	0	0	0	17621	1116	39	1	1435	1	ZBED4	22	50278743	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	8164537	50278743	1025823	46	43961											
AMELX	265	broad.mit.edu	37	chrX	11317075	11317075	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttggccatcaacagacaaGaccaagcgggaggaagtggt	13	5	14	9	1	1	2	1	0	0	2	1	4	1	4	2	4	2	1	2	4	4	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:11317075G>A	ENST00000380712.3	+	6	662	c.594G>A	c.(592-594)aaG>aaA	p.K198K	ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000337414.4_Intron|ARHGAP6_ENST00000380732.3_Intron|AMELX_ENST00000348912.4_Silent_p.K168K|ARHGAP6_ENST00000413512.3_Intron|AMELX_ENST00000380714.3_Silent_p.K184K	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	184					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CAACAGACAAGACCAAGCGGG	0.542													A	11317075	G	A	11317075	2	1	459	1	0	0	0	0	0	0	0	1	569	933	33	2		2	AMELX	23	11317075	Silent	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08		11317075	143953485	47	43962											
MAOA	4128	broad.mit.edu	37	chrX	43590513	43590513	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagtttgtaggtggatctgGtcaagtgagcgaacggataa	12	10	15	4	2	2	1	1	1	1	0	2	5	2	3	0	4	2	2	0	4	5	3			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:43590513G>C	ENST00000338702.3	+	7	794	c.671G>C	c.(670-672)gGt>gCt	p.G224A	MAOA_ENST00000542639.1_Missense_Mutation_p.G91A|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	224					behavior|neurotransmitter biosynthetic process|neurotransmitter catabolic process|neurotransmitter secretion|xenobiotic metabolic process	integral to membrane|mitochondrial outer membrane	primary amine oxidase activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Carbidopa(DB00190)|Clonazepam(DB01068)|Dopamine(DB00988)|Fluvoxamine(DB00176)|Ginkgo biloba(DB01381)|Imipramine(DB00458)|Isocarboxazid(DB01247)|Levodopa(DB01235)|Linezolid(DB00601)|Lorazepam(DB00186)|Moclobemide(DB01171)|Nicotine(DB00184)|Norepinephrine(DB00368)|Phenelzine(DB00780)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Pseudoephedrine(DB00852)|Rasagiline(DB01367)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)	GGTGGATCTGGTCAAGTGAGC	0.468													C	43590513	G	C	43590513	3	2	459	1	0	0	0	0	1	0	0	0	9300	1261	44	4	697	4	MAOA	23	43590513	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	32273438	43590513	111680047	48	43963											
ATRX	546	broad.mit.edu	37	chrX	76937602	76937602	+	Frame_Shift_Del	DEL	A	A	-																															ttttagaagttttatctcttAtttttttacttttcttttct																										TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:76937602delA	ENST00000373344.5	-	9	3360	c.3146delT	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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)	TTTATCTCTTATTTTTTTACT	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937602	A	-	76937602	7	5	459	1	0	1	0	1	0	0	0	0	1213	449	16	0	4440	0	ATRX	23	76937602	Frame_Shift_Del	DEL	A	TCGA-E1-A7YV-01A-11D-A34J-08	33347089	76937602	78332958	49	43964											
PCDH11X	27328	broad.mit.edu	37	chrX	91642841	91642841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttaccagcacatctcatggCctgccccttggctatcctca	7	11	6	17	0	2	0	2	0	1	0	4	0	3	0	5	2	3	2	5	2	2	3			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:91642841C>T	ENST00000373094.1	+	5	4097	c.3252C>T	c.(3250-3252)ggC>ggT	p.G1084G	PCDH11X_ENST00000361655.2_Silent_p.G1074G|PCDH11X_ENST00000373097.1_Silent_p.G1074G|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000373088.1_Silent_p.G1047G|PCDH11X_ENST00000406881.1_Silent_p.G1084G|PCDH11X_ENST00000298274.8_Silent_p.G1047G	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	1084					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATCTCATGGCCTGCCCCTTG	0.542													T	91642841	C	T	91642841	2	4	459	1	0	0	0	0	0	0	0	1	11584	726	26	2		2	PCDH11X	23	91642841	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	14705239	91642841	63627719	50	43965											
UBE2NL	389898	broad.mit.edu	37	chrX	142967238	142967238	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaggatcatcaaggaaacCcagcgtttgctggcagagcc	12	6	11	12	1	2	1	2	0	0	1	2	3	2	3	2	3	4	3	2	3	2	1			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:142967238C>A	ENST00000370494.1	+	1	66	c.36C>A	c.(34-36)acC>acA	p.T12T		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	12							acid-amino acid ligase activity	p.T12T(1)|p.Q13K(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					TCAAGGAAACCCAGCGTTTGC	0.468													A	142967238	C	A	142967238	2	1	459	1	0	0	0	0	0	0	0	1	16969	610	22	4		4	UBE2NL	23	142967238	Silent	SNP	C	TCGA-E1-A7YV-01A-11D-A34J-08	51324397	142967238	12303322	51	43966											
TMEM185A	84548	broad.mit.edu	37	chrX	148690439	148690439	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgattctgtcacagaccaGaacttcaaacatcaacaaga	16	8	5	12	1	4	3	3	0	1	3	5	4	4	3	1	0	3	0	1	0	4	2			TCGA-E1-A7YV-01A-11D-A34J-08	TCGA-E1-A7YV-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4a40149d-0c14-4c90-a9a8-ec4f88de1e14	7df6835d-3a88-4ed6-819d-1c1a43804009	g.chrX:148690439G>T	ENST00000316916.8	-	3	602	c.298C>A	c.(298-300)Ctg>Atg	p.L100M	TMEM185A_ENST00000536359.1_Missense_Mutation_p.L41M|TMEM185A_ENST00000507237.1_Missense_Mutation_p.L100M	NM_032508.2	NP_115897.1	Q8NFB2	T185A_HUMAN	transmembrane protein 185A	100						integral to membrane				kidney(1)|large_intestine(3)|lung(10)|ovary(1)	15	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TCACAGACCAGAACTTCAAAC	0.488													T	148690439	G	T	148690439	3	4	459	1	0	0	0	0	1	0	0	0	16207	933	33	4	774	4	TMEM185A	23	148690439	Missense_Mutation	SNP	G	TCGA-E1-A7YV-01A-11D-A34J-08	5723201	148690439	6580121	52	43967											
RHCE	6006	broad.mit.edu	37	chr1	25718594	25718594	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcagcccaaaataggctgcGaacacgtagaagtgcctcag	13	6	11	11	2	2	1	2	0	0	1	2	2	2	1	2	1	4	2	2	1	6	2			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:25718594G>A	ENST00000349320.3	-	6	865	c.477C>T	c.(475-477)ttC>ttT	p.F159F	RHCE_ENST00000349438.4_Silent_p.F175F|RHCE_ENST00000425135.1_Silent_p.F175F|RHCE_ENST00000294413.7_Silent_p.F175F|RHCE_ENST00000455194.1_Intron|RHCE_ENST00000243186.6_Silent_p.F175F|RHCE_ENST00000340849.4_Intron|RHCE_ENST00000374352.2_Silent_p.F159F|RHCE_ENST00000346452.4_Intron|RHCE_ENST00000413854.1_Silent_p.F175F			P18577	RHCE_HUMAN	Rh blood group, CcEe antigens	175						integral to plasma membrane				endometrium(8)|large_intestine(6)|lung(3)	17		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0101)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0426)|OV - Ovarian serous cystadenocarcinoma(117;2.12e-27)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|STAD - Stomach adenocarcinoma(196;0.00035)|KIRC - Kidney renal clear cell carcinoma(1967;0.000769)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|GBM - Glioblastoma multiforme(114;0.00458)|READ - Rectum adenocarcinoma(331;0.0649)		AATAGGCTGCGAACACGTAGA	0.532													A	25718594	G	A	25718594	2	1	460	1	0	0	0	0	0	0	0	1	13414	1049	37	1		1	RHCE	1	25718594	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		25718594	223532027	1	43968											
FLG	2312	broad.mit.edu	37	chr1	152283044	152283044	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacctggtagaggaaagAccttgaacgtccagagcttt	11	9	11	10	1	1	4	1	1	0	3	2	5	2	5	3	2	2	3	3	2	3	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:152283044A>C	ENST00000368799.1	-	3	4353	c.4318T>G	c.(4318-4320)Tct>Gct	p.S1440A	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1440	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TAGAGGAAAGACCTTGAACGT	0.587									Ichthyosis				C	152283044	A	C	152283044	3	2	460	1	0	0	0	0	1	0	0	0	5971	275	10	5	7871	5	FLG	1	152283044	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	126564450	152283044	96967577	2	43969											
PIGR	5284	broad.mit.edu	37	chr1	207112705	207112705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccagtacttccgggtgtgCcggttgacagaggtgggtgg	6	9	17	9	2	0	2	0	1	0	1	1	2	1	2	3	5	2	2	3	5	1	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr1:207112705C>T	ENST00000356495.4	-	3	330	c.147G>A	c.(145-147)cgG>cgA	p.R49R		NM_002644.3	NP_002635.2	P01833	PIGR_HUMAN	polymeric immunoglobulin receptor	49	Ig-like V-type 1.					extracellular region|integral to plasma membrane	protein binding			central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						TCCGGGTGTGCCGGTTGACAG	0.567													T	207112705	C	T	207112705	2	4	460	1	0	0	0	0	0	0	0	1	11974	726	26	2		2	PIGR	1	207112705	Silent	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	54829661	207112705	42137916	3	43970											
MYO7B	4648	broad.mit.edu	37	chr2	128394439	128394439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacctacttccacatggCgctggggagcctgggccgtg	6	7	14	14	2	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	1	2			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:128394439C>T	ENST00000389524.4	+	46	6256	c.6203C>T	c.(6202-6204)gCg>gTg	p.A2068V	MYO7B_ENST00000428314.1_Missense_Mutation_p.A2067V|MYO7B_ENST00000409816.2_Missense_Mutation_p.A2067V|MYO7B_ENST00000409090.1_Missense_Mutation_p.A920V			Q6PIF6	MYO7B_HUMAN	myosin VIIB	2067	FERM 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		TTCCACATGGCGCTGGGGAGC	0.642													T	128394439	C	T	128394439	3	4	460	1	0	0	0	0	1	0	0	0	10159	768	27	1	6378	1	MYO7B	2	128394439	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		128394439	114804934	4	43971											
DFNB59	494513	broad.mit.edu	37	chr2	179323278	179323278	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatcccaagggaagggacaaAgctattgttttcccagcaca	14	8	9	10	0	0	0	0	0	0	0	2	2	2	2	2	2	2	3	2	2	5	4			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr2:179323278A>T	ENST00000409117.3	+	5	947	c.591A>T	c.(589-591)aaA>aaT	p.K197N	DFNB59_ENST00000375129.4_Missense_Mutation_p.K197N|DFNB59_ENST00000605419.1_3'UTR	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	197					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			GAAGGGACAAAGCTATTGTTT	0.353													T	179323278	A	T	179323278	3	4	460	1	0	0	0	0	1	0	0	0	4495	69	3	5	605	5	DFNB59	2	179323278	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	50928839	179323278	63876095	5	43972											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	460	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	29789834	209113112	34086261	6	43973											
ERC2	26059	broad.mit.edu	37	chr3	56026189	56026189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgggccttgccacactcGtcgcggtagtaagacgcctc	6	9	12	14	4	0	1	0	0	0	1	3	1	0	1	3	2	1	3	3	2	2	4			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:56026189G>A	ENST00000288221.6	-	11	2406	c.2151C>T	c.(2149-2151)gaC>gaT	p.D717D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	717						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TGCCACACTCGTCGCGGTAGT	0.483													A	56026189	G	A	56026189	2	1	460	1	0	0	0	0	0	0	0	1	5252	1136	40	1		1	ERC2	3	56026189	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		56026189	141996241	7	43974											
PSMD2	5708	broad.mit.edu	37	chr3	184020270	184020270	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagattggcattgatgctcAatgacatggagttggtagaa	12	12	13	4	0	1	4	1	3	0	2	1	6	1	5	0	3	1	4	0	3	3	4			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr3:184020270A>C	ENST00000310118.4	+	6	1375	c.817A>C	c.(817-819)Aat>Cat	p.N273H	EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.N143H|PSMD2_ENST00000435761.1_Missense_Mutation_p.N114H	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	273					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	ATTGATGCTCAATGACATGGA	0.498													C	184020270	A	C	184020270	3	2	460	1	0	0	0	0	1	0	0	0	12783	130	5	5	839	5	PSMD2	3	184020270	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	127994081	184020270	14002160	8	43975											
MAN2B2	23324	broad.mit.edu	37	chr4	6578364	6578364	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggaagagctggcccgCggccagcagcgccggttcat	6	6	17	12	4	1	1	1	0	0	1	1	2	1	2	3	5	3	3	3	5	1	1			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr4:6578364C>T	ENST00000285599.3	+	2	234	c.198C>T	c.(196-198)cgC>cgT	p.R66R	MAN2B2_ENST00000504248.1_Silent_p.R66R	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	66					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						AGCTGGCCCGCGGCCAGCAGC	0.627													T	6578364	C	T	6578364	2	4	460	1	0	0	0	0	0	0	0	1	9292	755	27	1		1	MAN2B2	4	6578364	Silent	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		6578364	184575912	9	43976											
THBS4	7060	broad.mit.edu	37	chr5	79355295	79355295	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatttttgcgaaacaccatAgctgaatgccaggcttgcgg	10	11	10	10	2	1	1	1	1	0	0	1	2	1	1	2	2	5	2	2	2	3	4			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr5:79355295A>C	ENST00000350881.2	+	6	955	c.765A>C	c.(763-765)atA>atC	p.I255I	THBS4_ENST00000511733.1_Silent_p.I164I|CTD-2201I18.1_ENST00000503007.1_RNA	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	255					endothelial cell-cell adhesion|myoblast migration|negative regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation	basement membrane|extracellular space	calcium ion binding|heparin binding|integrin binding|structural molecule activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		GAAACACCATAGCTGAATGCC	0.443													C	79355295	A	C	79355295	2	2	460	1	0	0	0	0	0	0	0	1	15956	410	15	5		5	THBS4	5	79355295	Silent	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08		79355295	101559965	10	43977											
FAM83B	222584	broad.mit.edu	37	chr6	54791239	54791239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcgttgaggcatcaactcGaggagtatctgtttacattc	11	13	9	8	2	2	1	1	1	1	0	5	3	2	2	0	2	2	4	0	2	4	5			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr6:54791239G>A	ENST00000306858.7	+	3	631	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	172										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GCATCAACTCGAGGAGTATCT	0.333													A	54791239	G	A	54791239	3	1	460	1	0	0	0	0	1	0	0	0	5684	1058	37	1	521	1	FAM83B	6	54791239	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		54791239	116323828	11	43978											
EPHB6	2051	broad.mit.edu	37	chr7	142566372	142566372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccttcctgggccgggccGcagtgctgggtcagttccag	4	9	15	13	2	1	1	1	1	0	0	3	1	3	1	5	3	1	3	5	3	0	2			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr7:142566372G>A	ENST00000392957.2	+	15	2948	c.2161G>A	c.(2161-2163)Gca>Aca	p.A721T	EPHB6_ENST00000442129.1_Missense_Mutation_p.A721T|EPHB6_ENST00000411471.2_Missense_Mutation_p.A444T	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	721	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					GGGCCGGGCCGCAGTGCTGGG	0.687													A	142566372	G	A	142566372	3	1	460	1	0	0	0	0	1	0	0	0	5219	1087	38	1	2203	1	EPHB6	7	142566372	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		142566372	16572291	12	43979											
RIMS2	9699	broad.mit.edu	37	chr8	105263256	105263256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttttctttcccaagcaccGtatgtaaaagtgtatctatt	10	17	6	8	1	2	0	0	0	2	0	3	0	3	0	2	0	1	5	2	0	6	8	rs143698299	by1000genomes	TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:105263256G>A	ENST00000507740.1	+	21	3374	c.3138G>A	c.(3136-3138)ccG>ccA	p.P1046P	RIMS2_ENST00000339750.2_Silent_p.P168P|RIMS2_ENST00000262231.10_Silent_p.P1071P|RIMS2_ENST00000406091.3_Silent_p.P1232P|RIMS2_ENST00000436393.2_Silent_p.P1250P	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1294					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			CCCAAGCACCGTATGTAAAAG	0.408										HNSCC(12;0.0054)			A	105263256	G	A	105263256	2	1	460	1	0	0	0	0	0	0	0	1	13459	1132	40	1		1	RIMS2	8	105263256	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		105263256	41100766	13	43980											
KHDRBS3	10656	broad.mit.edu	37	chr8	136561043	136561043	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgaagtacttccatctcaAtgatgatctccatgttctca	11	13	6	11	1	3	2	2	2	3	0	7	3	4	2	2	0	2	2	2	0	3	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr8:136561043A>G	ENST00000355849.5	+	4	781	c.371A>G	c.(370-372)aAt>aGt	p.N124S	KHDRBS3_ENST00000520981.1_Intron	NM_006558.1	NP_006549.1	O75525	KHDR3_HUMAN	KH domain containing, RNA binding, signal transduction associated 3	124	KH.				regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	26	all_epithelial(106;2.85e-16)|all_neural(2;2.72e-06)|Lung NSC(106;3.95e-06)|all_lung(105;1.11e-05)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.247)			TTCCATCTCAATGATGATCTC	0.393													G	136561043	A	G	136561043	3	3	460	1	0	0	0	0	1	0	0	0	8206	101	4	3	385	3	KHDRBS3	8	136561043	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	31297787	136561043	9802979	14	43981											
KCNT1	57582	broad.mit.edu	37	chr9	138642849	138642849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgcctgctctacattgtGcgcgtcctgctcgatgaccc	5	11	9	16	3	1	1	0	1	1	0	3	2	2	1	4	0	5	2	4	0	1	2			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr9:138642849G>A	ENST00000298480.5	+	4	470	c.396G>A	c.(394-396)gtG>gtA	p.V132V	KCNT1_ENST00000263604.3_Silent_p.V113V|KCNT1_ENST00000486577.2_Silent_p.V93V|KCNT1_ENST00000490355.2_Silent_p.V113V|KCNT1_ENST00000491806.2_Silent_p.V99V|KCNT1_ENST00000487664.1_Silent_p.V84V|KCNT1_ENST00000488444.2_Silent_p.V113V|KCNT1_ENST00000371757.2_Silent_p.V132V			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	132						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		TCTACATTGTGCGCGTCCTGC	0.701													A	138642849	G	A	138642849	2	1	460	1	0	0	0	0	0	0	0	1	8149	1306	46	2		2	KCNT1	9	138642849	Silent	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08		138642849	2570582	15	43982											
ZNF32	7580	broad.mit.edu	37	chr10	44139670	44139670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgcactgggtacaggcaTagggcttcaggcctgtgtgg	6	10	15	10	0	1	0	1	0	0	0	2	0	2	0	2	5	2	4	2	5	2	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr10:44139670T>C	ENST00000395797.1	-	3	838	c.650A>G	c.(649-651)tAt>tGt	p.Y217C	ZNF32_ENST00000374433.2_Missense_Mutation_p.Y217C|ZNF32-AS1_ENST00000453284.1_RNA|ZNF32-AS3_ENST00000458063.1_RNA	NM_001005368.1	NP_001005368.1	P17041	ZNF32_HUMAN	zinc finger protein 32	217					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	14		all_neural(218;0.0182)|Ovarian(717;0.0443)|Renal(717;0.157)		Lung(62;0.179)		GGTACAGGCATAGGGCTTCAG	0.498													C	44139670	T	C	44139670	3	2	460	1	0	0	0	0	1	0	0	0	17939	1406	49	3	175	3	ZNF32	10	44139670	Missense_Mutation	SNP	T	TCGA-E1-A7YW-01A-11D-A34J-08		44139670	91395077	16	43983											
VWCE	220001	broad.mit.edu	37	chr11	61062455	61062455	+	Frame_Shift_Del	DEL	C	C	-																															ggtgtagcctcgggctggtgCccccggcagcaggagcgcga																										TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:61062455delC	ENST00000335613.5	-	1	441	c.55delG	c.(55-57)gcafs	p.A19fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	19						extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						CGGGCTGGTGCCCCCGGCAGC	0.786													-	61062455	C	-	61062455	7	5	460	1	0	1	0	1	0	0	0	0	17347	739	26	0	2892	0	VWCE	11	61062455	Frame_Shift_Del	DEL	C	TCGA-E1-A7YW-01A-11D-A34J-08		61062455	73944061	17	43984											
C11orf82	220042	broad.mit.edu	37	chr11	82643953	82643953	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctgtctctgtaaatcatAatggaagagatatgtcagaa	15	11	10	5	0	3	2	2	0	1	2	4	4	3	3	0	2	0	2	0	2	6	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr11:82643953A>T	ENST00000533655.1	+	6	1785	c.1573A>T	c.(1573-1575)Aat>Tat	p.N525Y	C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Missense_Mutation_p.N224Y|C11orf82_ENST00000430323.2_Missense_Mutation_p.N525Y	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	525					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGTAAATCATAATGGAAGAGA	0.348													T	82643953	A	T	82643953	3	4	460	1	0	0	0	0	1	0	0	0	1677	362	13	5	1587	5	C11orf82	11	82643953	Missense_Mutation	SNP	A	TCGA-E1-A7YW-01A-11D-A34J-08	21581498	82643953	52362563	18	43985											
PAH	5053	broad.mit.edu	37	chr12	103246665	103246665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaagactcggaaggccaggCcacccaagaaatcccgagag	14	2	13	12	2	0	3	0	0	0	3	2	6	1	5	4	4	0	0	4	4	4	0	rs62642908		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr12:103246665C>T	ENST00000553106.1	-	7	1242	c.770G>A	c.(769-771)gGc>gAc	p.G257D	PAH_ENST00000307000.2_Missense_Mutation_p.G252D	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	257			G -> C (in PKU).		catecholamine biosynthetic process|L-phenylalanine catabolic process|neurotransmitter biosynthetic process	cytosol	phenylalanine 4-monooxygenase activity			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Levodopa(DB01235)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GAAGGCCAGGCCACCCAAGAA	0.537													T	103246665	C	T	103246665	3	4	460	1	0	0	0	0	1	0	0	0	11470	739	26	2	616	2	PAH	12	103246665	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		103246665	30605230	19	43986											
TCF12	6938	broad.mit.edu	37	chr15	57523417	57523418	+	Frame_Shift_Ins	INS	-	-	TGGT																															agttatccatctcctaagccINSaccaaccagtatgttcgcta																										TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:57523417_57523418insTGGT	ENST00000267811.5	+	9	951_952	c.647_648insTGGT	c.(646-651)ccaccafs	p.P217fs	TCF12_ENST00000343827.3_Frame_Shift_Ins_p.P47fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.P213fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.P47fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.P217fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.H27fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	217					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCTCCTAAGCCACCAACCAGTA	0.361			T	TEC	extraskeletal myxoid chondrosarcoma								TGGT	57523418	-	TGGT	57523417	7	5	460	1	0	1	1	0	0	0	0	0	15787	594	21	0	750	0	TCF12	15	57523417	Frame_Shift_Ins	INS	-	TCGA-E1-A7YW-01A-11D-A34J-08		57523417	45007975	20	43987											
CCDC33	80125	broad.mit.edu	37	chr15	74623324	74623324	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccccatctcacagaaGaatgatcgagagaaggagct	13	7	9	12	1	1	4	1	1	1	3	5	7	3	5	3	1	1	1	3	1	3	0			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr15:74623324G>T	ENST00000321288.5	+	16	2157	c.2157G>T	c.(2155-2157)aaG>aaT	p.K719N	CCDC33_ENST00000268082.4_Missense_Mutation_p.K109N|CCDC33_ENST00000558821.1_Missense_Mutation_p.K109N|CCDC33_ENST00000398814.3_Missense_Mutation_p.K516N			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	719							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TCTCACAGAAGAATGATCGAG	0.607													T	74623324	G	T	74623324	3	4	460	1	0	0	0	0	1	0	0	0	2833	933	33	4	1675	4	CCDC33	15	74623324	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08	17099907	74623324	27908068	21	43988											
FBXO31	79791	broad.mit.edu	37	chr16	87367623	87367623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccaggctcgccaccatcCtcaccaggtgtcccatctgg	6	8	8	19	1	2	0	1	0	1	0	6	0	5	0	7	3	0	1	7	3	0	0			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:87367623C>T	ENST00000568879.1	-	1	256	c.257G>A	c.(256-258)aGg>aAg	p.R86K	FBXO31_ENST00000311635.7_Silent_p.E422E																							CGCCACCATCCTCACCAGGTG	0.736													T	87367623	C	T	87367623	3	4	460	1	0	0	0	0	1	0	0	0	5790	680	24	2	361	2	FBXO31	16	87367623	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		87367623	2987130	22	43989											
ANKRD11	29123	broad.mit.edu	37	chr16	89349484	89349484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggaggcataggcctcccGtccttcctccttctcctgga	4	11	10	16	2	1	0	0	0	1	0	7	2	5	2	6	4	0	1	6	4	1	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr16:89349484G>A	ENST00000301030.4	-	9	3926	c.3466C>T	c.(3466-3468)Cgg>Tgg	p.R1156W	ANKRD11_ENST00000378330.2_Missense_Mutation_p.R1156W	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1156	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TAGGCCTCCCGTCCTTCCTCC	0.612													A	89349484	G	A	89349484	3	1	460	1	0	0	0	0	1	0	0	0	639	1144	40	1	4545	1	ANKRD11	16	89349484	Missense_Mutation	SNP	G	TCGA-E1-A7YW-01A-11D-A34J-08	1981861	89349484	1005269	23	43990											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	460	1	0	0	0	0	1	0	0	0	16482	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		7577548	73617662	24	43991											
MYO1F	4542	broad.mit.edu	37	chr19	8609329	8609329	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcacacgtcgtccaagacgCtcatgatgcctggggggctc	7	7	13	14	4	1	2	1	1	0	1	4	2	2	2	2	3	1	3	2	3	1	0			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:8609329C>G	ENST00000338257.8	-	14	1643	c.1376G>C	c.(1375-1377)aGc>aCc	p.S459T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	459	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						GTCCAAGACGCTCATGATGCC	0.672													G	8609329	C	G	8609329	3	3	460	1	0	0	0	0	1	0	0	0	10149	797	28	4	1980	4	MYO1F	19	8609329	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08		8609329	50519654	25	43992											
ZNF772	400720	broad.mit.edu	37	chr19	57985169	57985169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcatttctccagtgtggaTtctctggtgctgagcaagta	8	13	12	8	0	2	1	0	1	2	0	4	2	2	2	1	3	2	4	1	3	2	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr19:57985169T>C	ENST00000343280.4	-	5	1203	c.943A>G	c.(943-945)Atc>Gtc	p.I315V	ZNF772_ENST00000600175.1_Intron|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.I203V|ZNF772_ENST00000356584.3_Missense_Mutation_p.I274V	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	315					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		CCAGTGTGGATTCTCTGGTGC	0.448													C	57985169	T	C	57985169	3	2	460	1	0	0	0	0	1	0	0	0	18244	1493	52	3	530	3	ZNF772	19	57985169	Missense_Mutation	SNP	T	TCGA-E1-A7YW-01A-11D-A34J-08	49375840	57985169	1143814	26	43993											
CDK5RAP1	51654	broad.mit.edu	37	chr20	31958332	31958333	+	Frame_Shift_Ins	INS	-	-	CC																															tgctgtaggcaaagaggaagINScccatgttgtactgaacttc																										TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:31958332_31958333insCC	ENST00000357886.4	-	12	1559_1560	c.1406_1407insGG	c.(1405-1407)ggcfs	p.G469fs	CDK5RAP1_ENST00000339269.5_Frame_Shift_Ins_p.G378fs|CDK5RAP1_ENST00000346416.2_Frame_Shift_Ins_p.G455fs|CDK5RAP1_ENST00000473997.1_Frame_Shift_Ins_p.G365fs|CDK5RAP1_ENST00000544843.1_Intron			Q96SZ6	CK5P1_HUMAN	CDK5 regulatory subunit associated protein 1	469					brain development|negative regulation of cyclin-dependent protein kinase activity|regulation of neuron differentiation|tRNA modification	cytoplasm	4 iron, 4 sulfur cluster binding|metal ion binding|neuronal Cdc2-like kinase binding|transferase activity			endometrium(2)|kidney(2)|large_intestine(3)|lung(12)|ovary(3)|skin(3)|urinary_tract(1)	26						CAAAGAGGAAGCCCATGTTGTA	0.545													CC	31958333	-	CC	31958332	7	5	460	1	0	1	1	0	0	0	0	0	3175	958	34	0	414	0	CDK5RAP1	20	31958332	Frame_Shift_Ins	INS	-	TCGA-E1-A7YW-01A-11D-A34J-08		31958332	31067188	27	43994											
NCOA6	23054	broad.mit.edu	37	chr20	33364209	33364209	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaatgtcacacgcacgCtgttccagggctccaccttc	7	11	9	14	2	1	1	1	1	0	0	4	1	3	1	3	1	0	5	3	1	1	3			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chr20:33364209C>A	ENST00000374796.2	-	5	2848	c.278G>T	c.(277-279)aGc>aTc	p.S93I	NCOA6_ENST00000359003.2_Missense_Mutation_p.S93I			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	93	CREBBP-binding region.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						CACACGCACGCTGTTCCAGGG	0.488													A	33364209	C	A	33364209	3	1	460	1	0	0	0	0	1	0	0	0	10309	797	28	4	5961	4	NCOA6	20	33364209	Missense_Mutation	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	1405877	33364209	29661311	28	43995											
ATRX	546	broad.mit.edu	37	chrX	76937426	76937426	+	Frame_Shift_Del	DEL	A	A	-																															tttctcagtatcagatgatgAacaatcttgtctcttccttg																										TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:76937426delA	ENST00000373344.5	-	9	3536	c.3322delT	c.(3322-3324)tcafs	p.S1110fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1072fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1110					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)	TCAGATGATGAACAATCTTGT	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937426	A	-	76937426	7	5	460	1	0	1	0	1	0	0	0	0	1213	246	9	0	4264	0	ATRX	23	76937426	Frame_Shift_Del	DEL	A	TCGA-E1-A7YW-01A-11D-A34J-08		76937426	78333134	29	43996											
FAM199X	139231	broad.mit.edu	37	chrX	103411655	103411655	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccgctccaccgcttccaCaccaacaggtacgaactgca	11	5	7	18	3	0	0	0	0	0	0	2	2	2	0	5	1	4	4	5	1	3	2			TCGA-E1-A7YW-01A-11D-A34J-08	TCGA-E1-A7YW-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5face8a0-d58b-491f-ac0c-250debfcc4a8	215dcbc7-2a33-44a1-958b-4c41634a5a18	g.chrX:103411655C>T	ENST00000493442.1	+	1	355	c.189C>T	c.(187-189)caC>caT	p.H63H		NM_207318.3	NP_997201.1	Q6PEV8	F199X_HUMAN	family with sequence similarity 199, X-linked	63										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						ACCGCTTCCACACCAACAGGT	0.672													T	103411655	C	T	103411655	2	4	460	1	0	0	0	0	0	0	0	1	5577	477	17	2		2	FAM199X	23	103411655	Silent	SNP	C	TCGA-E1-A7YW-01A-11D-A34J-08	26474229	103411655	51858905	30	43997											
RASGRP3	25780	broad.mit.edu	37	chr2	33747057	33747057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgagaagagtcacacagaGgaaaaaagtatccaagaagg	20	4	12	5	0	1	4	1	1	0	4	2	7	2	5	1	2	0	1	1	2	7	1			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:33747057G>A	ENST00000403687.3	+	7	1144	c.404G>A	c.(403-405)aGg>aAg	p.R135K	RASGRP3_ENST00000407811.1_Missense_Mutation_p.R135K|RASGRP3_ENST00000402538.3_Missense_Mutation_p.R135K	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	135					MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					GTCACACAGAGGAAAAAAGTA	0.418													A	33747057	G	A	33747057	3	1	461	1	0	0	0	0	1	0	0	0	13164	1000	35	2	422	2	RASGRP3	2	33747057	Missense_Mutation	SNP	G	TCGA-E1-A7YY-01A-11D-A34J-08		33747057	209452316	1	43998											
REG3G	130120	broad.mit.edu	37	chr2	79255361	79255361	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtggaaagattataacTgtgatgcaaagttaccctat	15	12	9	5	0	0	3	0	2	0	1	0	4	0	4	1	1	3	2	1	1	7	4			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:79255361T>A	ENST00000272324.5	+	6	671	c.487T>A	c.(487-489)Tgt>Agt	p.C163S	REG3G_ENST00000393897.2_Missense_Mutation_p.C163S|REG3G_ENST00000409471.1_Missense_Mutation_p.C117S	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	163	C-type lectin.				acute-phase response	extracellular region	sugar binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AGATTATAACTGTGATGCAAA	0.488													A	79255361	T	A	79255361	3	1	461	1	0	0	0	0	1	0	0	0	13301	1580	55	5	505	5	REG3G	2	79255361	Missense_Mutation	SNP	T	TCGA-E1-A7YY-01A-11D-A34J-08	45508304	79255361	163944012	2	43999											
KRCC1	51315	broad.mit.edu	37	chr2	88327833	88327833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtaaccactgaggcaaccGattttccactgtttgtggaa	10	12	10	9	1	0	1	0	1	0	0	1	3	1	2	3	3	2	3	3	3	3	4	rs148657110		TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:88327833G>A	ENST00000347055.3	-	4	643	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W		NM_016618.1	NP_057702.1	Q9NPI7	KRCC1_HUMAN	lysine-rich coiled-coil 1	84										cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)	7						TGAGGCAACCGATTTTCCACT	0.463													A	88327833	G	A	88327833	3	1	461	1	0	0	0	0	1	0	0	0	8499	1057	37	1	533	1	KRCC1	2	88327833	Missense_Mutation	SNP	G	TCGA-E1-A7YY-01A-11D-A34J-08	9072472	88327833	154871540	3	44000											
CHRNA1	1134	broad.mit.edu	37	chr2	175618969	175618969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttgatggccacgacagagCcgtcgtaggtccaggtgccc	7	7	15	12	3	0	2	0	1	0	1	2	3	1	2	4	4	2	2	4	4	1	2			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:175618969C>T	ENST00000348749.5	-	5	595	c.518G>A	c.(517-519)gGc>gAc	p.G173D	CHRNA1_ENST00000409542.1_Missense_Mutation_p.G91D|CHRNA1_ENST00000409323.1_Missense_Mutation_p.G173D|CHRNA1_ENST00000409219.1_Missense_Mutation_p.G173D|CHRNA1_ENST00000261007.5_Missense_Mutation_p.G198D|AC018890.6_ENST00000442996.1_RNA	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	198					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CACGACAGAGCCGTCGTAGGT	0.502													T	175618969	C	T	175618969	3	4	461	1	0	0	0	0	1	0	0	0	3411	739	26	2	875	2	CHRNA1	2	175618969	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	87291136	175618969	67580404	4	44001											
HOXD1	3231	broad.mit.edu	37	chr2	177054653	177054653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caataagtacttaactcgagCccggcgcatcgagatagcca	13	7	9	12	4	0	1	0	0	0	1	2	3	0	1	2	1	4	2	2	1	5	4			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr2:177054653C>T	ENST00000331462.4	+	2	993	c.770C>T	c.(769-771)gCc>gTc	p.A257V		NM_024501.2	NP_078777.1	Q9GZZ0	HXD1_HUMAN	homeobox D1	257						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	10			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.0226)		TTAACTCGAGCCCGGCGCATC	0.502													T	177054653	C	T	177054653	3	4	461	1	0	0	0	0	1	0	0	0	7373	739	26	2	776	2	HOXD1	2	177054653	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	1435684	177054653	66144720	5	44002											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	461	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	32058459	209113112	34086261	6	44003											
TKTL2	84076	broad.mit.edu	37	chr4	164393861	164393861	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcatcgtgtcaccactCagaacaataactctttcatt	12	13	5	11	1	5	1	4	0	1	1	6	2	5	1	1	0	2	1	1	0	3	4			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr4:164393861C>A	ENST00000280605.3	-	1	1186	c.1026G>T	c.(1024-1026)ctG>ctT	p.L342L		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	342						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGTCACCACTCAGaacaataa	0.428													A	164393861	C	A	164393861	2	1	461	1	0	0	0	0	0	0	0	1	16036	813	29	4		4	TKTL2	4	164393861	Silent	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		164393861	26760415	7	44004											
SLC12A7	10723	broad.mit.edu	37	chr5	1078124	1078125	+	Splice_Site	INS	-	-	GCAG																															tgcagggcctccccgaacctINSgcaggcaggcgggcaggcgg																										TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr5:1078124_1078125insGCAG	ENST00000264930.5	-	12	1498		c.e12-2			NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7						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)	TCCCCGAACCTgcaggcaggcg	0.673													GCAG	1078125	-	GCAG	1078124	8	5	461	1	0	1	1	0	0	0	1	0	14482	1594	55	0	1850	0	SLC12A7	5	1078124	Splice_Site	INS	-	TCGA-E1-A7YY-01A-11D-A34J-08		1078124	179837136	8	44005											
ACBD5	91452	broad.mit.edu	37	chr10	27499972	27499972	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgaccacccaagtaataCtgaaatggtccattgttgga	14	10	9	8	0	0	2	0	2	0	0	1	4	1	3	3	2	1	2	3	2	5	4			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr10:27499972C>T	ENST00000396271.3	-	9	1101	c.975G>A	c.(973-975)caG>caA	p.Q325Q	ACBD5_ENST00000375905.4_Silent_p.Q290Q|ACBD5_ENST00000375901.1_Silent_p.Q216Q|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375888.1_Silent_p.Q334Q|ACBD5_ENST00000375897.3_Silent_p.Q148Q	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	334					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAAGTAATACTGAAATGGTC	0.373													T	27499972	C	T	27499972	2	4	461	1	0	0	0	0	0	0	0	1	125	564	20	2		2	ACBD5	10	27499972	Silent	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		27499972	108034775	9	44006											
TAOK2	9344	broad.mit.edu	37	chr16	29994404	29994404	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcgcaggaggccgagccCtacatgcaccgggccgggac	7	5	15	14	4	0	0	0	0	0	0	1	3	0	2	4	4	3	3	4	4	1	2			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr16:29994404C>G	ENST00000308893.4	+	12	2054	c.1011C>G	c.(1009-1011)ccC>ccG	p.P337P	TAOK2_ENST00000279394.3_Silent_p.P337P|TAOK2_ENST00000543033.1_Silent_p.P337P|TAOK2_ENST00000416441.2_Silent_p.P164P	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	337					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						AGGCCGAGCCCTACATGCACC	0.632													G	29994404	C	G	29994404	2	3	461	1	0	0	0	0	0	0	0	1	15645	668	24	4		4	TAOK2	16	29994404	Silent	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		29994404	60360349	10	44007											
FAM65A	79567	broad.mit.edu	37	chr16	67575406	67575406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagaccaaggacctgtttgCcgccctgccccaggttgtgg	6	9	13	13	1	0	1	0	1	0	1	0	3	0	2	6	3	2	2	6	3	1	2			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr16:67575406C>T	ENST00000540839.3	+	12	1155	c.935C>T	c.(934-936)gCc>gTc	p.A312V	FAM65A_ENST00000379312.3_Missense_Mutation_p.A296V|FAM65A_ENST00000428437.2_Missense_Mutation_p.A306V|FAM65A_ENST00000042381.4_Missense_Mutation_p.A292V|FAM65A_ENST00000422602.2_Missense_Mutation_p.A312V			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	296						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GACCTGTTTGCCGCCCTGCCC	0.572													T	67575406	C	T	67575406	3	4	461	1	0	0	0	0	1	0	0	0	5649	739	26	2	913	2	FAM65A	16	67575406	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08	37581002	67575406	22779347	11	44008											
PLCG2	5336	broad.mit.edu	37	chr16	81953130	81953130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgtcgcatcaaccgggacgGccggcactttgtgctgggga	6	9	15	11	4	1	0	1	0	0	0	2	2	1	2	2	5	2	3	2	5	1	2			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr16:81953130G>A	ENST00000359376.3	+	20	2310	c.2096G>A	c.(2095-2097)gGc>gAc	p.G699D		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	699	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AACCGGGACGGCCGGCACTTT	0.532													A	81953130	G	A	81953130	3	1	461	1	0	0	0	0	1	0	0	0	12113	1203	42	2	2170	2	PLCG2	16	81953130	Missense_Mutation	SNP	G	TCGA-E1-A7YY-01A-11D-A34J-08	14377724	81953130	8401623	12	44009											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	10	5	13	13	3	0	2	0	1	0	1	2	4	1	3	4	4	2	0	4	4	2	1			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								T	42791715	C	T	42791715	3	4	461	1	0	0	0	0	1	0	0	0	3454	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		42791715	16337268	13	44010											
PRR12	57479	broad.mit.edu	37	chr19	50100465	50100465	+	Frame_Shift_Del	DEL	C	C	-																															ggagatgttcggtggaggggCcgcggacgactacggcaagg																										TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chr19:50100465delC	ENST00000418929.2	+	4	2885	c.2873delC	c.(2872-2874)gccfs	p.A959fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	138							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		GGTGGAGGGGCCGCGGACGAC	0.672													-	50100465	C	-	50100465	7	5	461	1	0	1	0	1	0	0	0	0	12670	739	26	0	2887	0	PRR12	19	50100465	Frame_Shift_Del	DEL	C	TCGA-E1-A7YY-01A-11D-A34J-08	7308750	50100465	9028518	14	44011											
AMMECR1	9949	broad.mit.edu	37	chrX	109459810	109459810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacactgagcagaaaagcCgtggcagctcatcccttgtc	11	7	11	12	1	1	3	1	1	0	2	3	4	2	3	2	1	3	3	2	1	2	1			TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chrX:109459810C>T	ENST00000262844.5	-	3	802	c.635G>A	c.(634-636)cGg>cAg	p.R212Q	AMMECR1_ENST00000372057.1_Missense_Mutation_p.R89Q|AMMECR1_ENST00000372059.2_Missense_Mutation_p.R175Q	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	212	AMMECR1.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCAGAAAAGCCGTGGCAGCTC	0.378													T	109459810	C	T	109459810	3	4	461	1	0	0	0	0	1	0	0	0	578	652	23	1	382	1	AMMECR1	23	109459810	Missense_Mutation	SNP	C	TCGA-E1-A7YY-01A-11D-A34J-08		109459810	45810750	15	44012											
WDR44	54521	broad.mit.edu	37	chrX	117582883	117582885	+	In_Frame_Del	DEL	TTC	TTC	-																															gaagacagataacacagaagTtcttctctctgctgacttca																										TCGA-E1-A7YY-01A-11D-A34J-08	TCGA-E1-A7YY-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c2415587-d4b6-4b6b-983f-8c3017ba2f09	ac126c0b-e17f-481c-8331-dc355f8ae993	g.chrX:117582883_117582885delTTC	ENST00000254029.3	+	20	3070_3072	c.2675_2677delTTC	c.(2674-2679)gttctt>gtt	p.L894del	WDR44_ENST00000371822.5_In_Frame_Del_p.L805del|WDR44_ENST00000371825.3_In_Frame_Del_p.L886del	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	894						cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						AACACAGAAGTTCTTCTCTCTGC	0.286													-	117582885	TTC	-	117582883	7	5	461	1	0	1	0	1	0	0	0	0	17398	1725	60	0	2753	0	WDR44	23	117582883	In_Frame_Del	DEL	TTC	TCGA-E1-A7YY-01A-11D-A34J-08	8123073	117582883	37687677	16	44013											
SLC6A17	388662	broad.mit.edu	37	chr1	110741027	110741027	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaatggacgctatgggagCggctacctgctggccagcac	8	6	13	14	2	0	0	0	0	0	0	0	2	0	2	3	4	4	4	3	4	3	2	rs151260028		TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr1:110741027C>T	ENST00000331565.4	+	12	2630	c.2145C>T	c.(2143-2145)agC>agT	p.S715S		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	715					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		GCTATGGGAGCGGCTACCTGC	0.667													T	110741027	C	T	110741027	2	4	462	1	0	0	0	0	0	0	0	1	14774	767	27	1		1	SLC6A17	1	110741027	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		110741027	138509594	1	44014											
OBSCN	84033	broad.mit.edu	37	chr1	228471427	228471427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagcgacacctatacctgCgacattggccaggcccagtc	10	6	10	15	2	0	0	0	0	0	0	1	3	0	0	4	2	3	0	4	2	2	3			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr1:228471427C>T	ENST00000570156.2	+	38	10322	c.10248C>T	c.(10246-10248)tgC>tgT	p.C3416C	OBSCN_ENST00000422127.1_Silent_p.C2987C|OBSCN_ENST00000366707.4_Silent_p.C106C|OBSCN_ENST00000366709.4_Silent_p.C106C|OBSCN_ENST00000284548.11_Silent_p.C2987C|OBSCN_ENST00000359599.6_Silent_p.C1834C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2451	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding	p.C3270C(1)|p.C3041C(1)		NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCTATACCTGCGACATTGGCC	0.647													T	228471427	C	T	228471427	2	4	462	1	0	0	0	0	0	0	0	1	10888	776	27	1		1	OBSCN	1	228471427	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	117730400	228471427	20779194	2	44015											
KCNS3	3790	broad.mit.edu	37	chr2	18112378	18112378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaccaaagcaccctcctgCggtttcctcacaccagactg	9	9	7	16	1	1	2	1	1	0	1	3	2	3	2	5	1	2	2	5	1	1	2			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr2:18112378C>T	ENST00000403915.1	+	3	554	c.103C>T	c.(103-105)Cgg>Tgg	p.R35W	KCNS3_ENST00000304101.4_Missense_Mutation_p.R35W|KCNS3_ENST00000465292.1_Intron	NM_001282428.1	NP_001269357.1	Q9BQ31	KCNS3_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 3	35					energy reserve metabolic process|regulation of insulin secretion	Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium channel regulator activity			endometrium(5)|kidney(1)|large_intestine(7)|lung(11)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					CACCCTCCTGCGGTTTCCTCA	0.512													T	18112378	C	T	18112378	3	4	462	1	0	0	0	0	1	0	0	0	8148	759	27	1	105	1	KCNS3	2	18112378	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		18112378	225086995	3	44016											
PTPRG	5793	broad.mit.edu	37	chr3	62153675	62153675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttattccatcttcaccacgGagcagcaagaccatgtcaag	12	10	7	12	1	3	1	2	0	1	1	4	2	4	2	3	1	2	2	3	1	3	4			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:62153675G>A	ENST00000474889.1	+	8	1248	c.871G>A	c.(871-873)Gag>Aag	p.E291K	PTPRG_ENST00000295874.10_Missense_Mutation_p.E291K	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	291	Alpha-carbonic anhydrase.				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)		CTTCACCACGGAGCAGCAAGA	0.478													A	62153675	G	A	62153675	3	1	462	1	0	0	0	0	1	0	0	0	12890	1175	41	2	901	2	PTPRG	3	62153675	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		62153675	135868755	4	44017											
ALG3	10195	broad.mit.edu	37	chr3	183963520	183963520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacaagtggtccggtgtcacCctgcagttgggtatagtcat	8	11	12	10	1	2	0	2	0	0	0	3	0	3	0	2	3	1	3	2	3	3	3			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr3:183963520C>T	ENST00000455059.1	-	2	611	c.157G>A	c.(157-159)Ggt>Agt	p.G53S	ALG3_ENST00000445626.2_Missense_Mutation_p.G45S|EIF2B5_ENST00000444495.1_Intron|ALG3_ENST00000397676.3_Missense_Mutation_p.G93S|ALG3_ENST00000418734.2_Intron			Q92685	ALG3_HUMAN	ALG3, alpha-1,3- mannosyltransferase	93					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	alpha-1,3-mannosyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CCGGTGTCACCCTGCAGTTGG	0.522													T	183963520	C	T	183963520	3	4	462	1	0	0	0	0	1	0	0	0	520	623	22	2	1071	2	ALG3	3	183963520	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	121809845	183963520	14058910	5	44018											
MED28	80306	broad.mit.edu	37	chr4	17616293	17616293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaacatggcggctccactaGggggtatgttttctgggcag	8	10	14	9	1	1	0	0	0	1	0	2	0	2	0	1	5	1	4	1	5	3	4			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:17616293G>C	ENST00000237380.7	+	1	40	c.16G>C	c.(16-18)Ggg>Cgg	p.G6R		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						GGCTCCACTAGGGGGTATGTT	0.652													C	17616293	G	C	17616293	3	2	462	1	0	0	0	0	1	0	0	0	9521	1000	35	4	18	4	MED28	4	17616293	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		17616293	173537983	6	44019											
NAA11	84779	broad.mit.edu	37	chr4	80246705	80246705	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggttactcttcctgacgtgCagagacacgtatttggcgtt	7	13	11	10	4	1	2	0	1	1	1	2	3	2	2	1	2	2	4	1	2	2	5			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:80246705C>A	ENST00000286794.4	-	1	499	c.327G>T	c.(325-327)ctG>ctT	p.L109L		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	109	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						TCCTGACGTGCAGAGACACGT	0.532													A	80246705	C	A	80246705	2	1	462	1	0	0	0	0	0	0	0	1	10193	697	25	4		4	NAA11	4	80246705	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	62630412	80246705	110907571	7	44020											
IBSP	3381	broad.mit.edu	37	chr4	88723847	88723847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tattatctttacaagcatgcCtacttttatcctcatttaaa	12	18	2	9	0	2	0	1	0	1	0	3	0	3	0	2	0	4	1	2	0	8	9			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr4:88723847C>T	ENST00000226284.5	+	4	214	c.147C>T	c.(145-147)gcC>gcT	p.A49A		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	49					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		ACAAGCATGCCTACTTTTATC	0.259													T	88723847	C	T	88723847	2	4	462	1	0	0	0	0	0	0	0	1	7533	668	24	2		2	IBSP	4	88723847	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	8477142	88723847	102430429	8	44021											
RASGEF1C	255426	broad.mit.edu	37	chr5	179563505	179563505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttggggccgaacttcCggacccgggcctacgggcaa	7	6	15	13	4	0	0	0	0	0	0	1	2	1	1	4	5	2	3	4	5	3	3			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr5:179563505C>T	ENST00000393371.2	-	3	607	c.311G>A	c.(310-312)cGg>cAg	p.R104Q	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.R104Q|RASGEF1C_ENST00000522500.1_5'UTR			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	104	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCCGAACTTCCGGACCCGGGC	0.687													T	179563505	C	T	179563505	3	4	462	1	0	0	0	0	1	0	0	0	13159	652	23	1	1133	1	RASGEF1C	5	179563505	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		179563505	1351755	9	44022											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55210075	T	G	55210075	3	3	462	1	0	0	0	0	1	0	0	0	5006	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-E1-A7Z2-01A-21D-A34J-08		55210075	103928588	10	44023											
CUX1	1523	broad.mit.edu	37	chr7	101459365	101459365	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagcgctttgatttacagCagctgcaggtcaggctcctc	8	10	12	11	1	1	1	1	1	0	0	3	2	2	2	1	3	5	5	1	3	2	3			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:101459365C>T	ENST00000360264.3	+	1	75	c.55C>T	c.(55-57)Cag>Tag	p.Q19*	CUX1_ENST00000547394.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000437600.4_Nonsense_Mutation_p.Q19*|CUX1_ENST00000393824.3_Nonsense_Mutation_p.Q19*|CUX1_ENST00000425244.2_Nonsense_Mutation_p.Q19*|CUX1_ENST00000292538.4_Nonsense_Mutation_p.Q19*	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	8					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						TGATTTACAGCAGCTGCAGGT	0.672													T	101459365	C	T	101459365	4	4	462	1	0	0	0	0	0	1	0	0	4097	711	25	2	57	2	CUX1	7	101459365	Nonsense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	46249290	101459365	57679298	11	44024											
OR2A5	393046	broad.mit.edu	37	chr7	143748419	143748419	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtgttgtggaaacagAgatcaaagtgagggatgcca	16	7	14	4	0	1	3	1	1	0	2	1	6	1	5	1	2	2	1	1	2	3	1			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:143748419A>C	ENST00000408906.2	+	1	959	c.925A>C	c.(925-927)Aga>Cga	p.R309R		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	309					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGAAACAGAGATCAAAGTG	0.473													C	143748419	A	C	143748419	2	2	462	1	0	0	0	0	0	0	0	1	11057	296	11	5		5	OR2A5	7	143748419	Silent	SNP	A	TCGA-E1-A7Z2-01A-21D-A34J-08	42289054	143748419	15390244	12	44025											
XRCC2	7516	broad.mit.edu	37	chr7	152345781	152345781	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatgtttttttaaactGttactttttaaacaacgtga	16	17	4	4	1	0	1	0	1	0	0	0	1	0	1	0	0	4	2	0	0	9	8			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr7:152345781G>C	ENST00000359321.1	-	3	874	c.789C>G	c.(787-789)aaC>aaG	p.N263K	XRCC2_ENST00000495707.1_5'UTR	NM_005431.1	NP_005422.1	O43543	XRCC2_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 2	263					meiosis	nucleus	ATP binding|DNA binding|DNA-dependent ATPase activity			NS(1)|breast(1)|large_intestine(5)|liver(1)|lung(1)|prostate(2)	11		all_hematologic(28;0.0592)|Prostate(32;0.081)	OV - Ovarian serous cystadenocarcinoma(82;0.0423)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0429)		TTTTTAAACTGTTACTTTTTA	0.333								Homologous recombination					C	152345781	G	C	152345781	3	2	462	1	0	0	0	0	1	0	0	0	17555	1368	48	4	57	4	XRCC2	7	152345781	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	8597362	152345781	6792882	13	44026											
RIMS2	9699	broad.mit.edu	37	chr8	105261789	105261789	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgggcccgtggccttgttGtaaaaccaggttccaagaca	9	9	11	12	2	0	1	0	0	0	1	2	1	2	1	5	3	1	3	5	3	3	4			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr8:105261789G>T	ENST00000507740.1	+	20	3342	c.3106G>T	c.(3106-3108)Gta>Tta	p.V1036L	RIMS2_ENST00000436393.2_Missense_Mutation_p.V1240L|RIMS2_ENST00000406091.3_Missense_Mutation_p.V1222L|RIMS2_ENST00000262231.10_Missense_Mutation_p.V1061L|RIMS2_ENST00000339750.2_Missense_Mutation_p.V158L	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1284					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGGCCTTGTTGTAAAACCAGG	0.403										HNSCC(12;0.0054)			T	105261789	G	T	105261789	3	4	462	1	0	0	0	0	1	0	0	0	13459	1377	48	4	3946	4	RIMS2	8	105261789	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		105261789	41102233	14	44027											
NEK6	10783	broad.mit.edu	37	chr9	127074826	127074826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttcgctgctcgctggcGgacttccagatcgaaaagaa	9	11	10	11	4	1	2	0	0	1	2	5	4	2	3	1	2	1	3	1	2	3	3			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr9:127074826G>A	ENST00000373600.3	+	4	446	c.231G>A	c.(229-231)gcG>gcA	p.A77A	NEK6_ENST00000540326.1_Silent_p.A61A|NEK6_ENST00000545174.1_Silent_p.A43A|NEK6_ENST00000546191.1_Silent_p.A43A|NEK6_ENST00000539416.1_Silent_p.A68A|NEK6_ENST00000373603.1_Silent_p.A43A|NEK6_ENST00000394199.2_Silent_p.A77A|NEK6_ENST00000320246.5_Silent_p.A43A	NM_001145001.2	NP_001138473.1	Q9HC98	NEK6_HUMAN	NIMA-related kinase 6	43	Protein kinase.				apoptosis|cell division|chromosome segregation|mitosis|peptidyl-serine phosphorylation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of mitotic metaphase/anaphase transition	cytoplasm|nucleus	ATP binding|kinesin binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15						GCTCGCTGGCGGACTTCCAGA	0.612													A	127074826	G	A	127074826	2	1	462	1	0	0	0	0	0	0	0	1	10404	1103	39	1		1	NEK6	9	127074826	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		127074826	14138605	15	44028											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430975	37430975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggaagacctaggaagatcGcatgggagaaaaaagaagac	20	3	13	5	1	0	5	0	0	0	5	1	8	0	7	1	3	0	1	1	3	8	1			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr10:37430975G>A	ENST00000374660.1	+	7	1081	c.982G>A	c.(982-984)Gca>Aca	p.A328T	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A328T|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A328T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	384						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TAGGAAGATCGCATGGGAGAA	0.433													A	37430975	G	A	37430975	3	1	462	1	0	0	0	0	1	0	0	0	658	1087	38	1	1008	1	ANKRD30A	10	37430975	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		37430975	98103772	16	44029											
GAL3ST3	89792	broad.mit.edu	37	chr11	65810541	65810541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcagcactagcgactcgtCgaagtactcggcgatcatga	11	7	11	12	5	1	1	1	1	0	0	4	4	1	1	0	1	4	3	0	1	3	2			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:65810541C>T	ENST00000312006.4	-	3	1014	c.733G>A	c.(733-735)Gac>Aac	p.D245N	GAL3ST3_ENST00000527878.1_Missense_Mutation_p.D245N	NM_033036.2	NP_149025.1	Q96A11	G3ST3_HUMAN	galactose-3-O-sulfotransferase 3	245					monosaccharide metabolic process|oligosaccharide metabolic process|poly-N-acetyllactosamine metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|carbohydrate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			kidney(1)|lung(9)|ovary(2)|skin(2)	14						AGCGACTCGTCGAAGTACTCG	0.692													T	65810541	C	T	65810541	3	4	462	1	0	0	0	0	1	0	0	0	6253	884	31	1	566	1	GAL3ST3	11	65810541	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		65810541	69195975	17	44030											
ELMOD1	55531	broad.mit.edu	37	chr11	107521064	107521064	+	Frame_Shift_Del	DEL	T	T	-																															tttccctcccgctgcaggtaTttcgcggaaagggatgccac																										TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:107521064delT	ENST00000265840.7	+	8	823	c.558delT	c.(556-558)tatfs	p.Y186fs	ELMOD1_ENST00000443271.2_Frame_Shift_Del_p.Y186fs|ELMOD1_ENST00000531234.1_Frame_Shift_Del_p.Y180fs	NM_018712.3	NP_061182.3	Q8N336	ELMD1_HUMAN	ELMO/CED-12 domain containing 1	186	ELMO.				phagocytosis	cytoskeleton	GTPase activator activity			endometrium(2)|large_intestine(5)|liver(2)|lung(7)|pancreas(2)|prostate(1)	19		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00304)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)|Epithelial(105;0.00027)|all cancers(92;0.00481)		GCTGCAGGTATTTCGCGGAAA	0.413													-	107521064	T	-	107521064	7	5	462	1	0	1	0	1	0	0	0	0	5109	1500	52	0	584	0	ELMOD1	11	107521064	Frame_Shift_Del	DEL	T	TCGA-E1-A7Z2-01A-21D-A34J-08	41710523	107521064	27485452	18	44031											
CDON	50937	broad.mit.edu	37	chr11	125887050	125887050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcccgccatgcaggaataGtttccggagtccgccgggtc	6	10	12	13	4	0	0	0	0	0	0	4	2	3	2	5	3	1	2	5	3	2	3			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr11:125887050G>A	ENST00000392693.3	-	6	988	c.861C>T	c.(859-861)aaC>aaT	p.N287N	CDON_ENST00000263577.7_Silent_p.N287N	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	287	Ig-like C2-type 3.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		TGCAGGAATAGTTTCCGGAGT	0.428													A	125887050	G	A	125887050	2	1	462	1	0	0	0	0	0	0	0	1	3200	1020	36	2		2	CDON	11	125887050	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	18365986	125887050	9119466	19	44032											
RNF113B	140432	broad.mit.edu	37	chr13	98828793	98828793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctcgcagatacagtagcgaCcctcttcaagctcccgttca	9	9	7	16	3	3	1	2	0	1	1	5	2	4	1	3	0	3	4	3	0	3	4			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr13:98828793C>A	ENST00000267291.6	-	1	726	c.698G>T	c.(697-699)gGt>gTt	p.G233V	FARP1_ENST00000376586.2_Intron|FARP1_ENST00000595437.1_Intron|FARP1_ENST00000376581.5_Intron|FARP1_ENST00000319562.6_Intron	NM_178861.4	NP_849192.1	Q8IZP6	R113B_HUMAN	ring finger protein 113B	233							nucleic acid binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	18	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.13)			ACAGTAGCGACCCTCTTCAAG	0.527													A	98828793	C	A	98828793	3	1	462	1	0	0	0	0	1	0	0	0	13519	507	18	4	278	4	RNF113B	13	98828793	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		98828793	16341085	20	44033											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139727	3139727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcgcccgtgtgcacccGttggtggctgaccagctgcg	3	10	13	15	4	1	1	0	1	1	0	2	1	1	1	3	2	3	4	3	2	0	2			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr16:3139727G>A	ENST00000252463.2	-	5	1630	c.1543C>T	c.(1543-1545)Cgg>Tgg	p.R515W	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.R176W|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.R433W	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	515					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GTGTGCACCCGTTGGTGGCTG	0.721													A	3139727	G	A	3139727	3	1	462	1	0	0	0	0	1	0	0	0	18326	1144	40	1	638	1	ZSCAN10	16	3139727	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		3139727	87215026	21	44034											
SHCBP1	79801	broad.mit.edu	37	chr16	46655218	46655218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcccagcccatgcgctcCggcgccatggccgctgcctc	4	5	11	21	5	0	0	0	0	0	0	2	0	1	0	7	2	3	2	7	2	0	0			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr16:46655218C>T	ENST00000303383.3	-	1	320	c.54G>A	c.(52-54)ccG>ccA	p.P18P	SHCBP1_ENST00000564272.1_5'UTR	NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	18										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				CCATGCGCTCCGGCGCCATGG	0.697													T	46655218	C	T	46655218	2	4	462	1	0	0	0	0	0	0	0	1	14368	639	23	1		1	SHCBP1	16	46655218	Silent	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	43515491	46655218	43699535	22	44035											
KSR1	8844	broad.mit.edu	37	chr17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccgcggccagccgggCgctgcagcagtgcgggcagc	5	2	20	14	5	0	0	0	0	0	0	0	0	0	0	3	5	5	4	3	5	0	0	rs143611966	by1000genomes	TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	35					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741													A	25783779	C	A	25783779	3	1	462	1	0	0	0	0	1	0	0	0	8640	783	27	4		4	KSR1	17	25783779	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		25783779	55411431	23	44036											
SLC6A4	6532	broad.mit.edu	37	chr17	28537613	28537613	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccggcgcttggcccagaCgtgtgggaactcatccagca	7	7	12	15	3	1	1	1	0	0	1	3	2	3	2	3	3	2	2	3	3	1	1			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:28537613C>T	ENST00000401766.2	-	10	1881	c.1369G>A	c.(1369-1371)Gtc>Atc	p.V457I	SLC6A4_ENST00000261707.3_Missense_Mutation_p.V457I			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	457					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity	p.V457I(1)		breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TTGGCCCAGACGTGTGGGAAC	0.597													T	28537613	C	T	28537613	3	4	462	1	0	0	0	0	1	0	0	0	14780	536	19	1	543	1	SLC6A4	17	28537613	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	2753834	28537613	52657597	24	44037											
LHX1	3975	broad.mit.edu	37	chr17	35300251	35300251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggtttaccgacatcctggcGcacccacccggggactcgcc	6	6	11	18	5	0	0	0	0	0	0	2	2	1	1	5	4	1	2	5	4	1	2			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:35300251G>A	ENST00000254457.5	+	5	2455	c.1044G>A	c.(1042-1044)gcG>gcA	p.A348A	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	348					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				ACATCCTGGCGCACCCACCCG	0.746													A	35300251	G	A	35300251	2	1	462	1	0	0	0	0	0	0	0	1	8830	1074	38	1		1	LHX1	17	35300251	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	6762638	35300251	45894959	25	44038											
SLC25A39	51629	broad.mit.edu	37	chr17	42400907	42400907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgctggagggggctgatGcccgcagggtcctggtcagc	5	9	17	10	1	1	1	1	1	0	0	2	2	2	2	2	5	3	3	2	5	0	1			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:42400907G>A	ENST00000225308.8	-	2	198	c.24C>T	c.(22-24)ggC>ggT	p.G8G	SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000537904.2_Silent_p.G8G|SLC25A39_ENST00000590194.1_Silent_p.G8G|SLC25A39_ENST00000377095.5_Silent_p.G8G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	8					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		GGGGGCTGATGCCCGCAGGGT	0.607													A	42400907	G	A	42400907	2	1	462	1	0	0	0	0	0	0	0	1	14597	1306	46	2		2	SLC25A39	17	42400907	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	7100656	42400907	38794303	26	44039											
TMEM105	284186	broad.mit.edu	37	chr17	79288241	79288241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccggaggcttcaaggacgCcctcctcaccttgagaagca	9	6	12	14	2	2	1	2	1	0	1	3	4	3	3	4	4	1	2	4	4	2	2			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:79288241C>T	ENST00000332900.1	-	2	571	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_178520.3	NP_848615.1	Q8N8V8	TM105_HUMAN	transmembrane protein 105	8						integral to membrane				NS(1)|large_intestine(3)|lung(1)|ovary(2)	7	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.0892)			TTCAAGGACGCCCTCCTCACC	0.647													T	79288241	C	T	79288241	3	4	462	1	0	0	0	0	1	0	0	0	16119	739	26	2	375	2	TMEM105	17	79288241	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	36887334	79288241	1906969	27	44040											
SLC25A10	1468	broad.mit.edu	37	chr17	79682008	79682008	+	Frame_Shift_Del	DEL	T	T	-																															tctgcagacgcagcaggaggTgaagctgcgcatgacgggca																										TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr17:79682008delT	ENST00000331531.5	+	2	239	c.119delT	c.(118-120)gtgfs	p.V40fs	SLC25A10_ENST00000350690.5_Frame_Shift_Del_p.V40fs|SLC25A10_ENST00000541223.1_Frame_Shift_Del_p.V195fs|SLC25A10_ENST00000571730.1_Frame_Shift_Del_p.V195fs|SLC25A10_ENST00000545862.1_5'UTR	NM_001270888.1	NP_001257817.1	Q9UBX3	DIC_HUMAN	solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10	40					gluconeogenesis|mitochondrial transport	integral to membrane|mitochondrial inner membrane|nucleus	protein binding			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	14	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0117)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)		Succinic acid(DB00139)	CAGCAGGAGGTGAAGCTGCGC	0.657													-	79682008	T	-	79682008	7	5	462	1	0	1	0	1	0	0	0	0	14566	1696	59	0	125	0	SLC25A10	17	79682008	Frame_Shift_Del	DEL	T	TCGA-E1-A7Z2-01A-21D-A34J-08	393767	79682008	1513202	28	44041											
ANKRD30B	374860	broad.mit.edu	37	chr18	14850370	14850370	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattgaaaagtgtaacaagtAatttgaatcaggtaaatcaa	20	11	7	3	0	2	2	2	2	0	0	2	2	2	2	0	1	1	3	0	1	10	5			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr18:14850370A>G	ENST00000358984.4	+	35	3376	c.3196A>G	c.(3196-3198)Aat>Gat	p.N1066D		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1151										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TGTAACAAGTAATTTGAATCA	0.289													G	14850370	A	G	14850370	3	3	462	1	0	0	0	0	1	0	0	0	659	362	13	3	3334	3	ANKRD30B	18	14850370	Missense_Mutation	SNP	A	TCGA-E1-A7Z2-01A-21D-A34J-08		14850370	63226878	29	44042											
REXO1	57455	broad.mit.edu	37	chr19	1827746	1827746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggctgggggcggctggaggtCccccacgtcgcactgcacgg	4	5	18	14	4	0	0	0	0	0	0	2	1	1	1	2	7	1	4	2	7	0	0			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:1827746C>T	ENST00000170168.4	-	2	1136	c.1042G>A	c.(1042-1044)Gac>Aac	p.D348N	REXO1_ENST00000587524.1_5'UTR	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	348						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		GGCTGGAGGTCCCCCACGTCG	0.687													T	1827746	C	T	1827746	3	4	462	1	0	0	0	0	1	0	0	0	13329	855	30	2	2683	2	REXO1	19	1827746	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08		1827746	57301237	30	44043											
RFX1	5989	broad.mit.edu	37	chr19	14094339	14094339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaccacctgagtaggaaCgccggtctggctggcggtgg	7	7	16	11	3	1	2	0	2	1	0	1	3	1	3	3	6	2	2	3	6	3	1			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:14094339C>T	ENST00000254325.4	-	3	622	c.388G>A	c.(388-390)Gtt>Att	p.V130I		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	130					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			TGAGTAGGAACGCCGGTCTGG	0.706													T	14094339	C	T	14094339	3	4	462	1	0	0	0	0	1	0	0	0	13350	536	19	1	2627	1	RFX1	19	14094339	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	12266593	14094339	45034644	31	44044											
TSHZ3	57616	broad.mit.edu	37	chr19	31768091	31768091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgtcaatgtcagacttctCggagatgctggaaggagtgg	9	9	14	9	2	3	2	2	0	1	2	4	5	3	4	1	4	1	1	1	4	2	1			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:31768091C>T	ENST00000240587.4	-	2	2935	c.2608G>A	c.(2608-2610)Gag>Aag	p.E870K		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	870					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCAGACTTCTCGGAGATGCTG	0.572													T	31768091	C	T	31768091	3	4	462	1	0	0	0	0	1	0	0	0	16726	893	31	1	641	1	TSHZ3	19	31768091	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	17673752	31768091	27360892	32	44045											
TSHZ3	57616	broad.mit.edu	37	chr19	31769601	31769601	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccccattctggtggccGtaccgattatttggcgtgat	5	13	12	11	3	1	1	0	1	1	0	1	2	1	1	4	4	1	1	4	4	2	4			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:31769601G>A	ENST00000240587.4	-	2	1425	c.1098C>T	c.(1096-1098)taC>taT	p.Y366Y		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	366					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.Y366_G367>*(1)|p.Y183_G184>*(1)		breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TCTGGTGGCCGTACCGATTAT	0.562													A	31769601	G	A	31769601	2	1	462	1	0	0	0	0	0	0	0	1	16726	1140	40	1		1	TSHZ3	19	31769601	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	1510	31769601	27359382	33	44046											
NAPSA	9476	broad.mit.edu	37	chr19	50862030	50862030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcagaggcggacgccatttCgagtagtctgcaaggcaaca	12	6	13	10	3	1	1	0	0	1	1	2	3	1	2	1	3	3	4	1	3	3	2			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr19:50862030C>T	ENST00000253719.2	-	9	1251	c.1043G>A	c.(1042-1044)cGa>cAa	p.R348Q	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000600978.1_Intron	NM_004851.1	NP_004842.1	O96009	NAPSA_HUMAN	napsin A aspartic peptidase	348					proteolysis	extracellular region	aspartic-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00743)|GBM - Glioblastoma multiforme(134;0.0183)		GACGCCATTTCGAGTAGTCTG	0.622													T	50862030	C	T	50862030	3	4	462	1	0	0	0	0	1	0	0	0	10242	884	31	1	223	1	NAPSA	19	50862030	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	19092429	50862030	8266953	34	44047											
GDAP1L1	78997	broad.mit.edu	37	chr20	42885841	42885841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgcgaggagcgggacGtgagcctgccacagagcgag	8	5	19	9	4	0	2	0	1	0	1	0	6	0	4	2	3	5	0	2	3	0	0			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:42885841G>A	ENST00000342560.5	+	2	317	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	GDAP1L1_ENST00000537864.1_Intron|GDAP1L1_ENST00000372952.3_Missense_Mutation_p.V77M	NM_001256737.1|NM_024034.4	NP_001243666.1|NP_076939.3	Q96MZ0	GD1L1_HUMAN	ganglioside induced differentiation associated protein 1-like 1	77	GST N-terminal.									endometrium(1)|large_intestine(5)|lung(10)|pancreas(1)|prostate(1)	18		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GGAGCGGGACGTGAGCCTGCC	0.667													A	42885841	G	A	42885841	3	1	462	1	0	0	0	0	1	0	0	0	6363	1145	40	1	235	1	GDAP1L1	20	42885841	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		42885841	20139679	35	44048											
NCOA3	8202	broad.mit.edu	37	chr20	46262895	46262895	+	Silent	SNP	A	A	T																															aaactcttccgaaatcctgtAacaaatgatcgacatggctt																										TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:46262895A>T	ENST00000372004.3	+	10	1284	c.1068A>T	c.(1066-1068)gtA>gtT	p.V356V	NCOA3_ENST00000371998.3_Silent_p.V356V|NCOA3_ENST00000371997.3_Silent_p.V366V|NCOA3_ENST00000341724.6_Silent_p.V366V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	356					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GAAATCCTGTAACAAATGATC	0.403													T	46262895	A	T	46262895	2	4	462	1	0	0	0	0	0	0	0	1	10306	349	13	5		5	NCOA3	20	46262895	Silent	SNP	A	TCGA-E1-A7Z2-01A-21D-A34J-08	3377054	46262895	16762625	36	44049	145	2									
NCOA3	8202	broad.mit.edu	37	chr20	46262897	46262897	+	Missense_Mutation	SNP	C	C	G																															actcttccgaaatcctgtaaCaaatgatcgacatggctttg																										TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr20:46262897C>G	ENST00000372004.3	+	10	1286	c.1070C>G	c.(1069-1071)aCa>aGa	p.T357R	NCOA3_ENST00000371998.3_Missense_Mutation_p.T357R|NCOA3_ENST00000371997.3_Missense_Mutation_p.T367R|NCOA3_ENST00000341724.6_Missense_Mutation_p.T367R	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	357					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						AATCCTGTAACAAATGATCGA	0.403													G	46262897	C	G	46262897	3	3	462	1	0	0	0	0	1	0	0	0	10306	478	17	4	1130	4	NCOA3	20	46262897	Missense_Mutation	SNP	C	TCGA-E1-A7Z2-01A-21D-A34J-08	2	46262897	16762623	37	44050	145	2									
MPPED1	758	broad.mit.edu	37	chr22	43821099	43821099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccacgtgatggccgctcgGcggcaccagcacagccggct	6	5	13	17	5	0	1	0	1	0	0	2	1	1	1	4	4	2	4	4	4	0	0			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chr22:43821099G>A	ENST00000417669.2	+	2	552	c.108G>A	c.(106-108)cgG>cgA	p.R36R	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000538182.1_Silent_p.R69R|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000542779.1_Silent_p.R36R|MPPED1_ENST00000443721.1_Silent_p.R36R			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				TGGCCGCTCGGCGGCACCAGC	0.662													A	43821099	G	A	43821099	2	1	462	1	0	0	0	0	0	0	0	1	9817	1190	42	2		2	MPPED1	22	43821099	Silent	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		43821099	7483467	38	44051											
ACRC	93953	broad.mit.edu	37	chrX	70828953	70828953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacctgtttaacagatccGtctgtgataaaaaggtagga	14	10	10	7	2	1	2	0	1	1	1	2	4	2	3	2	2	1	2	2	2	5	4			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chrX:70828953G>A	ENST00000373695.1	+	9	2134	c.1597G>A	c.(1597-1599)Gtc>Atc	p.V533I	ACRC_ENST00000471950.1_3'UTR|ACRC_ENST00000373696.3_Missense_Mutation_p.V533I			Q96QF7	ACRC_HUMAN	acidic repeat containing	533						nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TAACAGATCCGTCTGTGATAA	0.393													A	70828953	G	A	70828953	3	1	462	1	0	0	0	0	1	0	0	0	171	1145	40	1	1631	1	ACRC	23	70828953	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08		70828953	84441607	39	44052											
PLXNB3	5365	broad.mit.edu	37	chrX	153033031	153033031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctacttcgtgttccgccGccgcggggcccgggcccagg	2	6	15	18	7	0	0	0	0	0	0	2	0	1	0	6	4	1	1	6	4	1	3			TCGA-E1-A7Z2-01A-21D-A34J-08	TCGA-E1-A7Z2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53d89c8c-9732-4d1b-9cf3-49f1fb294853	2fc2d89c-126c-4a1f-987f-aa357fc63c67	g.chrX:153033031G>A	ENST00000538966.1	+	4	1089	c.818G>A	c.(817-819)cGc>cAc	p.R273H	PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R250H|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538282.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	250	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGTTccgccgccgcggggcc	0.706													A	153033031	G	A	153033031	3	1	462	1	0	0	0	0	1	0	0	0	12202	1087	38	1	873	1	PLXNB3	23	153033031	Missense_Mutation	SNP	G	TCGA-E1-A7Z2-01A-21D-A34J-08	82204078	153033031	2237529	40	44053											
AIM1L	55057	broad.mit.edu	37	chr1	26650676	26650676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcccatcctcgtagtaccaGatgcagctacctccagcttg	9	9	8	15	1	0	1	0	0	0	1	3	1	2	1	5	0	6	5	5	0	3	4			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:26650676G>C	ENST00000527815.1	-	17	2131	c.2082C>G	c.(2080-2082)atC>atG	p.I694M	AIM1L_ENST00000308182.5_Missense_Mutation_p.I523M	NM_001039775.3	NP_001034864.2	Q8N1P7	AIM1L_HUMAN	absent in melanoma 1-like	523							sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|pancreas(1)|skin(2)	12		all_cancers(24;4.67e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.51e-27)|Colorectal(126;1.61e-08)|COAD - Colon adenocarcinoma(152;9.32e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000792)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|STAD - Stomach adenocarcinoma(196;0.00154)|GBM - Glioblastoma multiforme(114;0.00858)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.165)|LUSC - Lung squamous cell carcinoma(448;0.239)		CGTAGTACCAGATGCAGCTAC	0.612													C	26650676	G	C	26650676	3	2	463	1	0	0	0	0	1	0	0	0	431	932	33	4	293	4	AIM1L	1	26650676	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		26650676	222599945	1	44054											
C1orf172	126695	broad.mit.edu	37	chr1	27278347	27278347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggctggggaggtggccctCgggtagggatacacagggat	7	6	21	7	1	0	0	0	0	0	0	1	3	0	3	1	9	1	2	1	9	2	2			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:27278347C>T	ENST00000320567.5	-	2	613	c.525G>A	c.(523-525)ccG>ccA	p.P175P		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	175										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		AGGTGGCCCTCGGGTAGGGAT	0.647													T	27278347	C	T	27278347	2	4	463	1	0	0	0	0	0	0	0	1	2033	871	31	1		1	C1orf172	1	27278347	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	627671	27278347	221972274	2	44055											
KIAA0907	22889	broad.mit.edu	37	chr1	155895455	155895455	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacataggttcaaaagcttcTcggccagatgctggctcaat	11	11	9	10	1	3	1	2	0	1	1	4	1	3	1	1	3	3	4	1	3	5	4			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:155895455T>C	ENST00000368320.3	-	7	886	c.861A>G	c.(859-861)cgA>cgG	p.R287R	KIAA0907_ENST00000368321.3_Silent_p.R287R|KIAA0907_ENST00000368319.3_Silent_p.R287R|KIAA0907_ENST00000482337.1_5'UTR			Q7Z7F0	K0907_HUMAN	KIAA0907	287										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			CAAAAGCTTCTCGGCCAGATG	0.478													C	155895455	T	C	155895455	2	2	463	1	0	0	0	0	0	0	0	1	8257	1538	54	3		3	KIAA0907	1	155895455	Silent	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08	128617108	155895455	93355166	3	44056											
F13B	2165	broad.mit.edu	37	chr1	197021808	197021808	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttctcctctgttgcacTgcacagataattcagacaat	11	13	5	12	0	4	2	2	0	2	2	5	2	4	2	1	0	2	3	1	0	2	4			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr1:197021808T>C	ENST00000367412.1	-	9	1554	c.1511A>G	c.(1510-1512)cAg>cGg	p.Q504R		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	504	Sushi 8.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TCTGTTGCACTGCACAGATAA	0.338													C	197021808	T	C	197021808	3	2	463	1	0	0	0	0	1	0	0	0	5383	1580	55	3	490	3	F13B	1	197021808	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08	41126353	197021808	52228813	4	44057											
APOB	338	broad.mit.edu	37	chr2	21228654	21228654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatgctgtctcctaccaaTgctggtggttacatccagct	9	12	9	11	0	1	1	0	0	1	1	3	1	2	1	3	2	5	4	3	2	4	2			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr2:21228654T>C	ENST00000233242.1	-	26	11213	c.11086A>G	c.(11086-11088)Att>Gtt	p.I3696V		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3696					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCTACCAATGCTGGTGGTT	0.423													C	21228654	T	C	21228654	3	2	463	1	0	0	0	0	1	0	0	0	788	1464	51	3	2621	3	APOB	2	21228654	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08		21228654	221970719	5	44058											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	463	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	187884458	209113112	34086261	6	44059											
ROBO2	6092	broad.mit.edu	37	chr3	77542481	77542481	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttgtcaagtccaaggagatCctcaaccaactgtgaggtgg	11	9	12	9	0	2	2	2	1	0	1	4	3	4	2	3	3	2	1	3	3	4	1			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:77542481C>G	ENST00000461745.1	+	5	1654	c.754C>G	c.(754-756)Cct>Gct	p.P252A	ROBO2_ENST00000332191.8_Missense_Mutation_p.P252A|ROBO2_ENST00000487694.3_Missense_Mutation_p.P268A	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	252	Ig-like C2-type 3.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CCAAGGAGATCCTCAACCAAC	0.413													G	77542481	C	G	77542481	3	3	463	1	0	0	0	0	1	0	0	0	13605	855	30	4	774	4	ROBO2	3	77542481	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		77542481	120479949	7	44060											
ARL6	84100	broad.mit.edu	37	chr3	97499462	97499462	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcttctttttgtagtttGtcatttacagtgtttgacat	6	23	7	5	0	2	1	1	1	1	0	2	1	2	1	0	0	2	4	0	0	2	9			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:97499462G>C	ENST00000463745.1	+	4	666	c.189G>C	c.(187-189)ttG>ttC	p.L63F	ARL6_ENST00000394206.1_Missense_Mutation_p.L63F|ARL6_ENST00000496713.1_3'UTR|ARL6_ENST00000335979.2_Missense_Mutation_p.L63F	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	63					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TTTGTAGTTTGTCATTTACAG	0.289													C	97499462	G	C	97499462	3	2	463	1	0	0	0	0	1	0	0	0	946	1368	48	4	199	4	ARL6	3	97499462	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08	19956981	97499462	100522968	8	44061											
DNAJC13	23317	broad.mit.edu	37	chr3	132166297	132166299	+	In_Frame_Del	DEL	CTT	CTT	-																															ctacagagcacagaacagaaCttcttacagaagcattggta																										TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr3:132166297_132166299delCTT	ENST00000260818.6	+	4	525_527	c.277_279delCTT	c.(277-279)cttdel	p.L94del	DNAJC13_ENST00000486798.1_3'UTR	NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	94							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						CAGAACAGAACTTCTTACAGAAG	0.32													-	132166299	CTT	-	132166297	7	5	463	1	0	1	0	1	0	0	0	0	4671	565	20	0	287	0	DNAJC13	3	132166297	In_Frame_Del	DEL	CTT	TCGA-E1-A7Z3-01A-11D-A34J-08	34666835	132166297	65856133	9	44062											
SCD5	79966	broad.mit.edu	37	chr4	83601969	83601971	+	In_Frame_Del	DEL	AGA	AGA	-																															aaacagccacccaatatgggAgaagaagaagccccggcggg																										TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr4:83601969_83601971delAGA	ENST00000319540.4	-	3	777_779	c.458_460delTCT	c.(457-462)ttctcc>tcc	p.F153del	SCD5_ENST00000273908.4_In_Frame_Del_p.F153del	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	153					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CCAATATGGGAGAAGAAGAAGCC	0.552													-	83601971	AGA	-	83601969	7	5	463	1	0	1	0	1	0	0	0	0	13979	304	11	0	750	0	SCD5	4	83601969	In_Frame_Del	DEL	AGA	TCGA-E1-A7Z3-01A-11D-A34J-08		83601969	107552307	10	44063											
CDC5L	988	broad.mit.edu	37	chr6	44394423	44394423	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acattacctatctggaacatAatccttatgaaaagttctcc	14	13	4	10	0	2	1	0	1	2	0	4	2	3	2	3	1	2	1	3	1	7	5			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:44394423A>C	ENST00000371477.3	+	13	2154	c.1855A>C	c.(1855-1857)Aat>Cat	p.N619H		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	619	Interaction with DAPK3 (By similarity).				cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|cytoplasm|nuclear speck|nucleolus	DNA binding|RNA binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			TCTGGAACATAATCCTTATGA	0.363													C	44394423	A	C	44394423	3	2	463	1	0	0	0	0	1	0	0	0	3112	362	13	5	1905	5	CDC5L	6	44394423	Missense_Mutation	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08		44394423	126720644	11	44064											
SLC22A16	85413	broad.mit.edu	37	chr6	110778052	110778052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagacaacagggccccGgtgtcctccaaactccaatt	11	7	8	15	1	0	2	0	1	0	1	3	2	3	2	6	2	2	0	6	2	4	1			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:110778052G>A	ENST00000368919.3	-	2	288	c.222C>T	c.(220-222)acC>acT	p.T74T	SLC22A16_ENST00000439654.1_Silent_p.T74T|SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000456137.2_Silent_p.T74T|SLC22A16_ENST00000461487.1_5'UTR	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	74					acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)		ACAGGGCCCCGGTGTCCTCCA	0.507													A	110778052	G	A	110778052	2	1	463	1	0	0	0	0	0	0	0	1	14541	1103	39	1		1	SLC22A16	6	110778052	Silent	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08	66383629	110778052	60337015	12	44065											
LTV1	84946	broad.mit.edu	37	chr6	144184292	144184292	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccaaagaaaggactcacaGcaaagcaaactgaaagaata	22	4	7	8	0	1	3	1	1	0	2	1	4	1	4	1	1	4	2	1	1	8	2			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr6:144184292G>A	ENST00000367576.5	+	10	1320	c.1186G>A	c.(1186-1188)Gca>Aca	p.A396T		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	396										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		AGGACTCACAGCAAAGCAAAC	0.348													A	144184292	G	A	144184292	3	1	463	1	0	0	0	0	1	0	0	0	9151	971	34	2	1224	2	LTV1	6	144184292	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08	33406240	144184292	26930775	13	44066											
ABCA13	154664	broad.mit.edu	37	chr7	48319515	48319515	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaatcccactaacagatcaAaggtaattaaaaagctgaat	20	8	5	8	0	1	2	1	1	0	1	2	2	2	2	1	1	2	2	1	1	8	3			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:48319515A>G	ENST00000435803.1	+	18	8748	c.8724A>G	c.(8722-8724)caA>caG	p.Q2908Q		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2908					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TAACAGATCAAAGGTAATTAA	0.343													G	48319515	A	G	48319515	2	3	463	1	0	0	0	0	0	0	0	1	31	11	1	3		3	ABCA13	7	48319515	Silent	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08		48319515	110819148	14	44067											
DNAJC2	27000	broad.mit.edu	37	chr7	102957362	102957362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttttacttccatttcCacctccaccagttgatttct	8	17	2	14	0	1	1	0	1	1	0	4	1	4	1	6	0	1	1	6	0	2	7			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:102957362C>T	ENST00000379263.3	-	13	1592	c.1342G>A	c.(1342-1344)Gga>Aga	p.G448R	PMPCB_ENST00000420236.2_Intron|DNAJC2_ENST00000249270.7_Missense_Mutation_p.G395R	NM_014377.1	NP_055192.1	Q99543	DNJC2_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 2	448					'de novo' cotranslational protein folding|chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nuclear membrane	chromatin binding|DNA binding|histone binding|Hsp70 protein binding|ubiquitin binding			endometrium(1)|kidney(9)|large_intestine(6)|lung(4)|ovary(1)	21						CTTCCATTTCCACCTCCACCA	0.378													T	102957362	C	T	102957362	3	4	463	1	0	0	0	0	1	0	0	0	4678	603	21	2	543	2	DNAJC2	7	102957362	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	54637847	102957362	56181301	15	44068											
DLD	1738	broad.mit.edu	37	chr7	107559676	107559676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagagaagcaaatcttgctgCgtcatttggcaaatcaatca	14	11	8	8	1	4	1	3	0	1	1	4	2	4	1	0	1	3	3	0	1	5	3			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr7:107559676C>T	ENST00000205402.5	+	14	1783	c.1502C>T	c.(1501-1503)gCg>gTg	p.A501V	DLD_ENST00000440410.1_Missense_Mutation_p.A478V|DLD_ENST00000437604.2_Missense_Mutation_p.A453V|DLD_ENST00000537148.1_Missense_Mutation_p.A402V	NM_000108.3	NP_000099.2	P09622	DLDH_HUMAN	dihydrolipoamide dehydrogenase	501					branched chain family amino acid catabolic process|cell redox homeostasis|lysine catabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|tricarboxylic acid cycle	mitochondrial matrix	dihydrolipoyl dehydrogenase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(10)|prostate(1)	20					NADH(DB00157)	AATCTTGCTGCGTCATTTGGC	0.323													T	107559676	C	T	107559676	3	4	463	1	0	0	0	0	1	0	0	0	4590	768	27	1	1556	1	DLD	7	107559676	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	4602314	107559676	51578987	16	44069											
VPS13A	23230	broad.mit.edu	37	chr9	79986031	79986031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaactggaggcatcataGacatggctagcagtacattt	12	9	11	9	0	1	1	1	0	0	1	1	2	1	2	1	4	3	4	1	4	4	4			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr9:79986031G>T	ENST00000360280.3	+	67	9303	c.9043G>T	c.(9043-9045)Gac>Tac	p.D3015Y	VPS13A_ENST00000376634.4_Missense_Mutation_p.D3015Y|VPS13A_ENST00000357409.5_Missense_Mutation_p.D3015Y|VPS13A_ENST00000376636.3_Missense_Mutation_p.D2976Y	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	3015					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AGGCATCATAGACATGGCTAG	0.418													T	79986031	G	T	79986031	3	4	463	1	0	0	0	0	1	0	0	0	17291	942	33	4	9309	4	VPS13A	9	79986031	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		79986031	61227400	17	44070											
KIAA1462	57608	broad.mit.edu	37	chr10	30317528	30317528	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgccacacagcggtctcTctggttggggaggccactgt	5	10	13	13	1	2	0	0	0	2	0	3	1	2	1	3	5	2	1	3	5	0	2			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr10:30317528T>C	ENST00000375377.1	-	3	1650	c.1549A>G	c.(1549-1551)Aga>Gga	p.R517G		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	517										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						CAGCGGTCTCTCTGGTTGGGG	0.652													C	30317528	T	C	30317528	3	2	463	1	0	0	0	0	1	0	0	0	8292	1559	54	3	2538	3	KIAA1462	10	30317528	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08		30317528	105217219	18	44071											
ATM	472	broad.mit.edu	37	chr11	108119696	108119696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccagatccttggagatttctCaatcttacactactacacaa	13	12	4	12	0	2	2	1	0	2	2	4	3	3	2	2	1	3	0	2	1	5	5			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr11:108119696C>G	ENST00000278616.4	+	9	1487	c.1102C>G	c.(1102-1104)Caa>Gaa	p.Q368E	ATM_ENST00000452508.2_Missense_Mutation_p.Q368E	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	368					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		GGAGATTTCTCAATCTTACAC	0.328			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			G	108119696	C	G	108119696	3	3	463	1	0	0	0	0	1	0	0	0	1114	827	29	4	1132	4	ATM	11	108119696	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		108119696	26886820	19	44072											
MYO1A	4640	broad.mit.edu	37	chr12	57442017	57442017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatctccttgttttcatagcGaagctgaagattcttgagca	11	14	8	8	1	3	3	1	2	2	1	4	4	3	3	1	0	3	3	1	0	4	6			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:57442017G>A	ENST00000442789.2	-	3	378	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C	MYO1A_ENST00000300119.3_Missense_Mutation_p.R31C	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	31	Myosin head-like.				sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						TTTTCATAGCGAAGCTGAAGA	0.542													A	57442017	G	A	57442017	3	1	463	1	0	0	0	0	1	0	0	0	10144	1058	37	1	3148	1	MYO1A	12	57442017	Missense_Mutation	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		57442017	76409878	20	44073											
GPR133	283383	broad.mit.edu	37	chr12	131620642	131620642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacctcgtgggtctttggCgtgcttgctgtcaacggttg	3	14	15	9	3	2	0	1	0	1	0	3	0	2	0	1	4	4	4	1	4	2	4			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr12:131620642C>T	ENST00000261654.5	+	22	2887	c.2328C>T	c.(2326-2328)ggC>ggT	p.G776G	GPR133_ENST00000543617.1_Silent_p.G295G|GPR133_ENST00000540207.1_3'UTR|GPR133_ENST00000535015.1_Silent_p.G808G|GPR133_ENST00000376682.4_Silent_p.G462G	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	776					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GGGTCTTTGGCGTGCTTGCTG	0.617													T	131620642	C	T	131620642	2	4	463	1	0	0	0	0	0	0	0	1	6697	755	27	1		1	GPR133	12	131620642	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	74178625	131620642	2231253	21	44074											
UGGT2	55757	broad.mit.edu	37	chr13	96546858	96546858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacatcatatcgagatgcaCgcttaggcacagaggacata	14	8	10	9	2	1	3	1	1	0	2	2	5	1	4	0	2	1	3	0	2	3	3			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr13:96546858C>T	ENST00000376747.3	-	24	2883	c.2813G>A	c.(2812-2814)cGt>cAt	p.R938H		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	938					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TCGAGATGCACGCTTAGGCAC	0.358													T	96546858	C	T	96546858	3	4	463	1	0	0	0	0	1	0	0	0	17044	536	19	1	1801	1	UGGT2	13	96546858	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		96546858	18623020	22	44075											
TRIP11	9321	broad.mit.edu	37	chr14	92466345	92466345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagtattttccatttgtttTtgtttcagggccaacatgac	8	17	8	8	0	1	1	1	1	0	0	2	1	2	1	2	1	1	4	2	1	2	7			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:92466345T>C	ENST00000267622.4	-	12	5038	c.4665A>G	c.(4663-4665)caA>caG	p.Q1555Q		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	1555					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		CCATTTGTTTTTGTTTCAGGG	0.338			T	PDGFRB	AML								C	92466345	T	C	92466345	2	2	463	1	0	0	0	0	0	0	0	1	16656	1838	64	3		3	TRIP11	14	92466345	Silent	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08		92466345	14883195	23	44076											
SERPINA5	5104	broad.mit.edu	37	chr14	95053930	95053930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcatctccatgagcctggcCatgctctccctgggggctgg	5	9	13	14	0	2	1	0	1	2	0	4	1	2	1	4	4	3	3	4	4	0	0			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr14:95053930C>T	ENST00000329597.7	+	3	441	c.231C>T	c.(229-231)gcC>gcT	p.A77A	SERPINA5_ENST00000553780.1_Silent_p.A77A|SERPINA5_ENST00000554276.1_Silent_p.A77A|SERPINA5_ENST00000554866.1_Silent_p.A77A	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	77					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TGAGCCTGGCCATGCTCTCCC	0.597													T	95053930	C	T	95053930	2	4	463	1	0	0	0	0	0	0	0	1	14185	581	21	2		2	SERPINA5	14	95053930	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	2587585	95053930	12295610	24	44077											
HERC2	8924	broad.mit.edu	37	chr15	28413709	28413709	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggcgatcatggcggcCggcatcagggccccgacaac	8	3	15	15	5	2	0	2	0	0	0	2	2	2	0	4	6	1	1	4	6	1	0			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:28413709C>A	ENST00000261609.7	-	67	10365	c.10257G>T	c.(10255-10257)ccG>ccT	p.P3419P		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3419					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		TCATGGCGGCCGGCATCAGGG	0.632													A	28413709	C	A	28413709	2	1	463	1	0	0	0	0	0	0	0	1	7113	639	23	4		4	HERC2	15	28413709	Silent	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		28413709	74117683	25	44078											
TUBGCP4	27229	broad.mit.edu	37	chr15	43694049	43694052	+	Splice_Site	DEL	GTAA	GTAA	-																															cctttatcctattgaaacctGtaagtaaggctcattggttt																										TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:43694049_43694052delGTAA	ENST00000564079.1	+	15	1971		c.e15+1		TUBGCP4_ENST00000399460.3_Splice_Site|TUBGCP4_ENST00000260383.7_Splice_Site	NM_014444.2	NP_055259.2	Q9UGJ1	GCP4_HUMAN	tubulin, gamma complex associated protein 4						G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	structural constituent of cytoskeleton			breast(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(4)|prostate(2)|upper_aerodigestive_tract(2)	21		all_cancers(109;1.27e-10)|all_epithelial(112;4.82e-09)|Lung NSC(122;1.72e-06)|all_lung(180;1.59e-05)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;3.53e-07)		ATTGAAACCTGTAAGTAAGGCTCA	0.422													-	43694052	GTAA	-	43694049	8	5	463	1	0	1	0	1	0	0	1	0	16870	1391	48	0	1790	0	TUBGCP4	15	43694049	Splice_Site	DEL	GTAA	TCGA-E1-A7Z3-01A-11D-A34J-08	15280340	43694049	58837343	26	44079											
MYO1E	4643	broad.mit.edu	37	chr15	59453404	59453404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcactccaggggccccagtTttcctttttcaacttcagtt	6	15	7	13	0	2	0	2	0	0	0	4	0	4	0	4	2	2	3	4	2	1	6			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr15:59453404T>C	ENST00000288235.4	-	24	3052	c.2653A>G	c.(2653-2655)Aac>Gac	p.N885D		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	885					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		GGGCCCCAGTTTTCCTTTTTC	0.567											OREG0023156	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	59453404	T	C	59453404	3	2	463	1	0	0	0	0	1	0	0	0	10148	1841	64	3	693	3	MYO1E	15	59453404	Missense_Mutation	SNP	T	TCGA-E1-A7Z3-01A-11D-A34J-08	15759355	59453404	43077988	27	44080											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-																															ttccactcggataagatgctGaggaggggccagacctaaga																										TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr17:7578275_7578277delGAG	ENST00000420246.2	-	6	704_706	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000269305.4_In_Frame_Del_p.P191del|TP53_ENST00000455263.2_In_Frame_Del_p.P191del|TP53_ENST00000445888.2_In_Frame_Del_p.P191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCCAG	0.557		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)			-	7578277	GAG	-	7578275	7	5	463	1	0	1	0	1	0	0	0	0	16482	1299	45	0	720	0	TP53	17	7578275	In_Frame_Del	DEL	GAG	TCGA-E1-A7Z3-01A-11D-A34J-08		7578275	73616935	28	44081											
ETHE1	23474	broad.mit.edu	37	chr19	44030437	44030437	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggagatgacagactggcaGccagggaggagggaacggag	12	2	20	7	2	0	3	0	1	0	2	0	8	0	7	1	6	2	1	1	6	1	0			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:44030437G>A	ENST00000600651.1	-	3	314	c.291C>T	c.(289-291)ggC>ggT	p.G97G	ZNF575_ENST00000458714.2_Intron|ETHE1_ENST00000292147.2_Silent_p.G97G			O95571	ETHE1_HUMAN	ethylmalonic encephalopathy 1	97						mitochondrial matrix|nucleus	hydrolase activity|metal ion binding			central_nervous_system(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	5		Prostate(69;0.0153)				CAGACTGGCAGCCAGGGAGGA	0.622													A	44030437	G	A	44030437	2	1	463	1	0	0	0	0	0	0	0	1	5313	958	34	2		2	ETHE1	19	44030437	Silent	SNP	G	TCGA-E1-A7Z3-01A-11D-A34J-08		44030437	15098546	29	44082											
ZNF470	388566	broad.mit.edu	37	chr19	57088811	57088811	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggtccacactggagagaaAccctatgaatgtattgaatg	14	9	11	7	0	0	3	0	2	0	1	1	5	1	4	2	2	1	1	2	2	5	3			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr19:57088811A>C	ENST00000330619.8	+	6	1700	c.1014A>C	c.(1012-1014)aaA>aaC	p.K338N	ZNF470_ENST00000601902.1_Intron|ZNF470_ENST00000391709.3_Missense_Mutation_p.K338N	NM_001001668.3	NP_001001668.3	Q6ECI4	ZN470_HUMAN	zinc finger protein 470	338					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(7)|large_intestine(12)|lung(11)|ovary(1)|pancreas(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	41		Colorectal(82;5.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0294)		CTGGAGAGAAACCCTATGAAT	0.428													C	57088811	A	C	57088811	3	2	463	1	0	0	0	0	1	0	0	0	18030	40	2	5	1028	5	ZNF470	19	57088811	Missense_Mutation	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08	13058374	57088811	2040172	30	44083											
RRBP1	6238	broad.mit.edu	37	chr20	17639269	17639271	+	In_Frame_Del	DEL	CTT	CTT	-																															ccttttttctttgaaccagaCttcttcttggcaggagcctc																										TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr20:17639269_17639271delCTT	ENST00000377813.1	-	3	2185_2187	c.1882_1884delAAG	c.(1882-1884)aagdel	p.K628del	RRBP1_ENST00000246043.4_In_Frame_Del_p.K628del|RRBP1_ENST00000377807.2_In_Frame_Del_p.K198del|RRBP1_ENST00000360807.4_In_Frame_Del_p.K198del|RRBP1_ENST00000455029.2_Intron			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	628					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						TTGAACCAGACTTCTTCTTGGCA	0.453													-	17639271	CTT	-	17639269	7	5	463	1	0	1	0	1	0	0	0	0	13769	564	20	0	2431	0	RRBP1	20	17639269	In_Frame_Del	DEL	CTT	TCGA-E1-A7Z3-01A-11D-A34J-08		17639269	45386251	31	44084											
PI4KA	5297	broad.mit.edu	37	chr22	21062373	21062373	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatagtactggatcatgtCgtaggtccggctcctgaaag	9	11	12	9	2	1	2	1	2	0	0	4	3	3	3	2	3	1	3	2	3	4	3			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chr22:21062373C>T	ENST00000255882.6	-	55	6357	c.6271G>A	c.(6271-6273)Gac>Aac	p.D2091N	PI4KA_ENST00000414196.3_Missense_Mutation_p.D843N|PI4KA_ENST00000572273.1_Missense_Mutation_p.D2033N	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	2033					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			TGGATCATGTCGTAGGTCCGG	0.587													T	21062373	C	T	21062373	3	4	463	1	0	0	0	0	1	0	0	0	11950	884	31	1	41	1	PI4KA	22	21062373	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		21062373	30242193	32	44085											
ASB11	140456	broad.mit.edu	37	chrX	15306083	15306083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgccctgagcatttctaCgcttcaggttagctccatag	7	15	8	11	1	2	1	1	1	1	0	3	1	3	1	2	1	4	4	2	1	3	7			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:15306083C>T	ENST00000537676.1	-	6	776	c.704G>A	c.(703-705)cGt>cAt	p.R235H	ASB11_ENST00000480796.1_Missense_Mutation_p.R256H|ASB11_ENST00000344384.4_Missense_Mutation_p.R235H|ASB11_ENST00000380470.3_Missense_Mutation_p.R239H			Q8WXH4	ASB11_HUMAN	ankyrin repeat and SOCS box containing 11	256					intracellular signal transduction					breast(2)|central_nervous_system(4)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(1)	16	Hepatocellular(33;0.183)					AGCATTTCTACGCTTCAGGTT	0.572													T	15306083	C	T	15306083	3	4	463	1	0	0	0	0	1	0	0	0	1020	536	19	1	212	1	ASB11	23	15306083	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08		15306083	139964477	33	44086											
CXorf38	159013	broad.mit.edu	37	chrX	40506561	40506561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagccaggtgctcacctggCgggcgcgagggctgcaccgt	5	5	17	14	5	1	0	1	0	0	0	1	2	1	0	3	4	3	3	3	4	0	0			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:40506561C>T	ENST00000327877.5	-	1	238	c.212G>A	c.(211-213)cGc>cAc	p.R71H	CXorf38_ENST00000378421.1_5'UTR|CXorf38_ENST00000378426.1_5'UTR|CXorf38_ENST00000440784.2_Missense_Mutation_p.R71H|CXorf38_ENST00000378418.2_Missense_Mutation_p.R71H	NM_144970.2	NP_659407.1	Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	71										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						GCTCACCTGGCGGGCGCGAGG	0.751													T	40506561	C	T	40506561	3	4	463	1	0	0	0	0	1	0	0	0	4140	768	27	1	771	1	CXorf38	23	40506561	Missense_Mutation	SNP	C	TCGA-E1-A7Z3-01A-11D-A34J-08	25200478	40506561	114763999	34	44087											
ATRX	546	broad.mit.edu	37	chrX	76778764	76778767	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															catactcagcccaagctgctTttctttcttcttcagtcaac																										TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:76778764_76778767delTTTC	ENST00000373344.5	-	31	7026_7029	c.6812_6815delGAAA	c.(6811-6816)agaaaafs	p.RK2271fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.RK2233fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2271			R -> G (in MRXSHF1).		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			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)	CCAAGCTGCTTTTCTTTCTTCTTC	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76778767	TTTC	-	76778764	7	5	463	1	0	1	0	1	0	0	0	0	1213	1841	64	0	683	0	ATRX	23	76778764	Frame_Shift_Del	DEL	TTTC	TCGA-E1-A7Z3-01A-11D-A34J-08	36272203	76778764	78491796	35	44088											
COX7B	1349	broad.mit.edu	37	chrX	77155051	77155051	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctagcttcaccttcacgAtgtttcccttggtcaaaagc	8	14	7	12	1	4	0	3	0	1	0	5	1	5	0	2	1	2	3	2	1	3	6			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:77155051A>G	ENST00000481445.1	+	1	117	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443													G	77155051	A	G	77155051	1	3	463	1	0	0	0	0	0	0	0	0	3813	333	12	3		3	COX7B	23	77155051	Translation_Start_Site	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08	376287	77155051	78115509	36	44089											
SOX3	6658	broad.mit.edu	37	chrX	139586563	139586563	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgctgggcagggagtacttAtctttcttgagcagcgtctt	6	13	12	10	2	3	1	0	1	3	0	3	2	3	2	1	2	3	4	1	2	2	5			TCGA-E1-A7Z3-01A-11D-A34J-08	TCGA-E1-A7Z3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4c7e93c7-09b0-4f5e-8e50-5485a1572fc1	cecdfd71-e1b1-4c90-a72d-c6770c44f2b5	g.chrX:139586563A>G	ENST00000370536.2	-	1	662	c.663T>C	c.(661-663)gaT>gaC	p.D221D		NM_005634.2	NP_005625.2	P41225	SOX3_HUMAN	SRY (sex determining region Y)-box 3	221					face development|hypothalamus development|negative regulation of neuron differentiation|pituitary gland development|regulation of transcription, DNA-dependent|sensory organ development|sex determination|transcription, DNA-dependent	nucleus	DNA binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	10	Acute lymphoblastic leukemia(192;7.65e-05)					GGGAGTACTTATCTTTCTTGA	0.692													G	139586563	A	G	139586563	2	3	463	1	0	0	0	0	0	0	0	1	15045	446	16	3		3	SOX3	23	139586563	Silent	SNP	A	TCGA-E1-A7Z3-01A-11D-A34J-08	62431512	139586563	15683997	37	44090											
OR10J5	127385	broad.mit.edu	37	chr1	159504970	159504970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagggagtgatgatggtgtaCgtcactgagagaacaaggtc	13	8	15	5	1	1	4	1	3	0	1	2	6	1	5	0	3	2	1	0	3	4	1			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr1:159504970C>T	ENST00000334857.2	-	1	872	c.828G>A	c.(826-828)acG>acA	p.T276T		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					TGATGGTGTACGTCACTGAGA	0.458													T	159504970	C	T	159504970	2	4	464	1	0	0	0	0	0	0	0	1	10988	523	19	1		1	OR10J5	1	159504970	Silent	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		159504970	89745651	1	44091											
RANBP2	5903	broad.mit.edu	37	chr2	109357066	109357066	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcttttgaagatgggtCagcatagtagtaatgttcaa	11	14	10	6	0	3	2	2	1	1	1	3	2	3	2	0	1	2	5	0	1	5	6			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:109357066C>A	ENST00000283195.6	+	7	1030	c.904C>A	c.(904-906)Cag>Aag	p.Q302K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	302					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAAGATGGGTCAGCATAGTAG	0.413													A	109357066	C	A	109357066	3	1	464	1	0	0	0	0	1	0	0	0	13116	827	29	4	930	4	RANBP2	2	109357066	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		109357066	133842307	2	44092											
LRP1B	53353	broad.mit.edu	37	chr2	141083421	141083421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtcagcccaatatatgcGttcactaaaataatccacag	17	9	5	10	1	2	0	2	0	0	0	3	0	3	0	2	0	2	1	2	0	7	5			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:141083421G>A	ENST00000389484.3	-	80	13221	c.12250C>T	c.(12250-12252)Cgc>Tgc	p.R4084C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4084					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CAATATATGCGTTCACTAAAA	0.378										TSP Lung(27;0.18)			A	141083421	G	A	141083421	3	1	464	1	0	0	0	0	1	0	0	0	9025	1145	40	1	1597	1	LRP1B	2	141083421	Missense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08	31726355	141083421	102115952	3	44093											
TANK	10010	broad.mit.edu	37	chr2	162087928	162087928	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacttgtatcaggacaactCtggatagagctgcgtgtttg	10	12	11	8	1	2	1	1	0	1	1	2	3	2	3	0	2	3	3	0	2	3	4			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:162087928C>A	ENST00000392749.2	+	7	1206	c.967C>A	c.(967-969)Ctg>Atg	p.L323M	TANK_ENST00000402568.1_Intron|TANK_ENST00000406287.1_Intron|TANK_ENST00000259075.2_Missense_Mutation_p.L323M|AC009299.2_ENST00000445372.1_RNA|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.L323M	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	323						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						CAGGACAACTCTGGATAGAGC	0.428													A	162087928	C	A	162087928	3	1	464	1	0	0	0	0	1	0	0	0	15643	912	32	4	1022	4	TANK	2	162087928	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	21004507	162087928	81111445	4	44094											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	464	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	47025184	209113112	34086261	5	44095											
CHRND	1144	broad.mit.edu	37	chr2	233391274	233391274	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggaggagcggctgatcCggcacctgtttcaagagaag	11	6	15	9	3	1	2	1	1	0	1	2	6	2	4	2	4	1	3	2	4	2	1			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr2:233391274C>T	ENST00000258385.3	+	2	120	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	CHRND_ENST00000457943.2_5'UTR|CHRND_ENST00000536614.1_Missense_Mutation_p.R30W|CHRND_ENST00000543200.1_Missense_Mutation_p.R30W	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	30					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GCGGCTGATCCGGCACCTGTT	0.632													T	233391274	C	T	233391274	3	4	464	1	0	0	0	0	1	0	0	0	3424	643	23	1	94	1	CHRND	2	233391274	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	24278162	233391274	9808099	6	44096											
NIPAL4	348938	broad.mit.edu	37	chr5	156899689	156899689	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgttacctcgtccatcatCctcttcaaggagtggtacag	8	12	9	12	2	3	0	2	0	1	0	7	1	5	1	3	2	2	2	3	2	3	3			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899689C>A	ENST00000311946.7	+	6	1238	c.1122C>A	c.(1120-1122)atC>atA	p.I374I	NIPAL4_ENST00000435489.2_Silent_p.I355I|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	374						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CGTCCATCATCCTCTTCAAGG	0.512											OREG0016979	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	156899689	C	A	156899689	2	1	464	1	0	0	0	0	0	0	0	1	10503	845	30	4		4	NIPAL4	5	156899689	Silent	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		156899689	24015571	7	44097											
NIPAL4	348938	broad.mit.edu	37	chr5	156899850	156899850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaaacccacccccttctcCcgccccggaacccactgtta	10	6	4	21	2	1	0	0	0	1	0	2	1	1	1	7	1	2	1	7	1	4	2			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr5:156899850C>T	ENST00000311946.7	+	6	1399	c.1283C>T	c.(1282-1284)cCc>cTc	p.P428L	NIPAL4_ENST00000435489.2_Missense_Mutation_p.P409L|ADAM19_ENST00000430702.2_Intron	NM_001099287.1	NP_001092757.1	Q0D2K0	NIPA4_HUMAN	NIPA-like domain containing 4	428						integral to membrane	receptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|prostate(1)|skin(1)	22						CCCCCTTCTCCCGCCCCGGAA	0.517													T	156899850	C	T	156899850	3	4	464	1	0	0	0	0	1	0	0	0	10503	623	22	2	1305	2	NIPAL4	5	156899850	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	161	156899850	24015410	8	44098											
C6orf62	81688	broad.mit.edu	37	chr6	24718870	24718870	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtagtctgttcagagcttgTttcttccgggagtttgggtc	4	16	13	8	2	3	1	1	0	2	1	5	2	4	2	1	2	1	5	1	2	1	6			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr6:24718870T>C	ENST00000378119.4	-	1	2194	c.27A>G	c.(25-27)aaA>aaG	p.K9K	C6orf62_ENST00000378102.3_Intron|C6orf62_ENST00000540769.1_Intron	NM_030939.4	NP_112201.1	Q9GZU0	CF062_HUMAN	chromosome 6 open reading frame 62	9						intracellular				endometrium(2)|kidney(3)|large_intestine(2)|lung(3)	10						TCAGAGCTTGTTTCTTCCGGG	0.398													C	24718870	T	C	24718870	2	2	464	1	0	0	0	0	0	0	0	1	2391	1722	60	3		3	C6orf62	6	24718870	Silent	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		24718870	146396197	9	44099											
MICA	100507436	broad.mit.edu	37	chr6	31378928	31378928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcccagcatttctactaCgatggggagctcttcctctc	7	12	8	14	1	3	0	0	0	3	0	6	2	5	1	2	2	5	3	2	2	2	4	rs41553614	by1000genomes	TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr6:31378928C>T	ENST00000449934.2	+	3	459	c.405C>T	c.(403-405)taC>taT	p.Y135Y	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	135					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				ATTTCTACTACGATGGGGAGC	0.552													T	31378928	C	T	31378928	2	4	464	1	0	0	0	0	0	0	0	1	9643	547	19	1		1	MICA	6	31378928	Silent	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	6660058	31378928	139736139	10	44100											
CSMD1	64478	broad.mit.edu	37	chr8	2910030	2910030	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttactccacaacccatcttcTtgacacacggctgttgcttg	8	13	6	14	1	2	1	0	1	2	0	3	1	3	1	2	1	3	3	2	1	2	5			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr8:2910030T>C	ENST00000602557.1	-	51	8172	c.7617A>G	c.(7615-7617)caA>caG	p.Q2539Q	CSMD1_ENST00000602723.1_Silent_p.Q2539Q|CSMD1_ENST00000537824.1_Silent_p.Q2538Q|CSMD1_ENST00000542608.1_Silent_p.Q2538Q|CSMD1_ENST00000520002.1_Silent_p.Q2539Q|CSMD1_ENST00000400186.3_Silent_p.Q2539Q			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2539	Sushi 15.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACCCATCTTCTTGACACACGG	0.502													C	2910030	T	C	2910030	2	2	464	1	0	0	0	0	0	0	0	1	3977	1606	56	3		3	CSMD1	8	2910030	Silent	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		2910030	143453992	11	44101											
VPS13A	23230	broad.mit.edu	37	chr9	79820286	79820286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactcaacctgttgaagccgTattggaagaaatttatttac	13	14	7	7	1	1	2	1	1	0	1	1	3	1	3	2	1	4	2	2	1	8	8			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:79820286T>C	ENST00000360280.3	+	4	505	c.245T>C	c.(244-246)gTa>gCa	p.V82A	VPS13A_ENST00000376636.3_Missense_Mutation_p.V82A|VPS13A_ENST00000376634.4_Missense_Mutation_p.V82A|VPS13A_ENST00000357409.5_Missense_Mutation_p.V82A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	82					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						GTTGAAGCCGTATTGGAAGAA	0.229													C	79820286	T	C	79820286	3	2	464	1	0	0	0	0	1	0	0	0	17291	1638	57	3	259	3	VPS13A	9	79820286	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		79820286	61393145	12	44102											
KIF27	55582	broad.mit.edu	37	chr9	86518658	86518658	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggattctttgaaccgttCaccagtattccccgttttgg	8	15	8	10	2	2	1	1	1	1	0	3	2	3	2	4	2	1	3	4	2	3	7			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:86518658C>A	ENST00000297814.2	-	4	918	c.775G>T	c.(775-777)Gaa>Taa	p.E259*	KIF27_ENST00000413982.1_Nonsense_Mutation_p.E259*|KIF27_ENST00000334204.2_Nonsense_Mutation_p.E259*	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	259	Kinesin-motor.				cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						TTGAACCGTTCACCAGTATTC	0.438													A	86518658	C	A	86518658	4	1	464	1	0	0	0	0	0	1	0	0	8354	835	29	4	3490	4	KIF27	9	86518658	Nonsense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	6698372	86518658	54694773	13	44103											
TLR4	7099	broad.mit.edu	37	chr9	120475584	120475584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaaggttgctgttctcAaagtgattttgggacaacca	11	14	9	7	0	2	1	2	1	1	0	3	2	2	2	1	2	2	3	1	2	3	5			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr9:120475584A>G	ENST00000355622.6	+	3	1279	c.1178A>G	c.(1177-1179)cAa>cGa	p.Q393R	TLR4_ENST00000394487.4_Missense_Mutation_p.Q353R|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	393					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						TGCTGTTCTCAAAGTGATTTT	0.388													G	120475584	A	G	120475584	3	3	464	1	0	0	0	0	1	0	0	0	16053	130	5	3	1188	3	TLR4	9	120475584	Missense_Mutation	SNP	A	TCGA-E1-A7Z4-01A-11D-A34J-08	33956926	120475584	20737847	14	44104											
AHNAK	79026	broad.mit.edu	37	chr11	62290002	62290002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccttgggtcctgagaCgtcaaggtcagccttgggca	7	9	13	12	1	2	1	2	1	0	1	4	2	4	1	4	3	1	1	4	3	1	2			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr11:62290002C>T	ENST00000378024.4	-	5	12161	c.11887G>A	c.(11887-11889)Gtc>Atc	p.V3963I	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3963					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GGTCCTGAGACGTCAAGGTCA	0.483													T	62290002	C	T	62290002	3	4	464	1	0	0	0	0	1	0	0	0	414	536	19	1	5905	1	AHNAK	11	62290002	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		62290002	72716514	15	44105											
APOBEC1	339	broad.mit.edu	37	chr12	7805222	7805222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactccaggacaagaaccagGtgatggagcagctcatggat	13	6	13	9	0	1	2	1	1	0	1	2	6	2	5	2	4	3	2	2	4	2	0			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:7805222G>A	ENST00000229304.4	-	3	274	c.254C>T	c.(253-255)aCc>aTc	p.T85I		NM_001644.3	NP_001635.2	P41238	ABEC1_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide 1	85					cytidine to uridine editing|DNA demethylation|lipid metabolic process|mRNA modification|mRNA processing|negative regulation of methylation-dependent chromatin silencing	nucleoplasm	cytidine deaminase activity|RNA binding|zinc ion binding			kidney(2)|large_intestine(2)|lung(10)|prostate(1)|skin(1)|stomach(1)	17						CAAGAACCAGGTGATGGAGCA	0.473													A	7805222	G	A	7805222	3	1	464	1	0	0	0	0	1	0	0	0	790	1261	44	2	468	2	APOBEC1	12	7805222	Missense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08		7805222	126046673	16	44106											
LRP1	4035	broad.mit.edu	37	chr12	57605713	57605713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacctcttccctccagataTagcctccatcctaatccctc	8	11	2	20	0	1	1	0	0	1	1	7	1	6	1	8	0	1	0	8	0	3	4	rs140219533		TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:57605713T>C	ENST00000243077.3	+	87	13728	c.13262T>C	c.(13261-13263)aTa>aCa	p.I4421T		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4421					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCAGATATAGCCTCCATC	0.612													C	57605713	T	C	57605713	3	2	464	1	0	0	0	0	1	0	0	0	9021	1406	49	3	13608	3	LRP1	12	57605713	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08	49800491	57605713	76246182	17	44107											
GNPTAB	79158	broad.mit.edu	37	chr12	102158787	102158787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaattcagttttggtccctcCcttgtgtccacctccactgt	5	15	7	14	0	1	0	1	0	0	0	5	1	5	0	5	1	0	1	5	1	1	4			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr12:102158787C>T	ENST00000299314.7	-	13	2170	c.1908G>A	c.(1906-1908)agG>agA	p.R636R		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	636					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						TTGGTCCCTCCCTTGTGTCCA	0.403													T	102158787	C	T	102158787	2	4	464	1	0	0	0	0	0	0	0	1	6601	622	22	2		2	GNPTAB	12	102158787	Silent	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	44553074	102158787	31693108	18	44108											
SPG20	23111	broad.mit.edu	37	chr13	36909834	36909834	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcctattccttgcttatagTagttctttgcttcttccttc	4	21	5	11	0	2	0	0	0	2	0	6	0	5	0	3	0	2	4	3	0	4	11			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr13:36909834T>A	ENST00000451493.1	-	2	351	c.134A>T	c.(133-135)tAc>tTc	p.Y45F	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000355182.4_Missense_Mutation_p.Y45F|SPG20_ENST00000494062.2_Missense_Mutation_p.Y45F|SPG20_ENST00000438666.2_Missense_Mutation_p.Y45F	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	45	MIT.				cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCTTATAGTAGTTCTTTGC	0.398													A	36909834	T	A	36909834	3	1	464	1	0	0	0	0	1	0	0	0	15138	1638	57	5	1898	5	SPG20	13	36909834	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		36909834	78260044	19	44109											
CLMN	79789	broad.mit.edu	37	chr14	95677044	95677044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctggctccaggagcctggGgatgtgcagggcatcctgtg	5	10	16	10	0	1	0	0	0	1	0	3	2	3	2	3	5	2	3	3	5	0	1			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr14:95677044G>C	ENST00000298912.4	-	7	894	c.781C>G	c.(781-783)Ccc>Gcc	p.P261A		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	261	Actin-binding.|CH 2.					integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		AGGAGCCTGGGGATGTGCAGG	0.473													C	95677044	G	C	95677044	3	2	464	1	0	0	0	0	1	0	0	0	3573	1232	43	4	2255	4	CLMN	14	95677044	Missense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08		95677044	11672496	20	44110											
TP53	7157	broad.mit.edu	37	chr17	7578213	7578214	+	Frame_Shift_Del	DEL	AA	AA	-																															ggcaccaccacactatgtcgAaaagtgtttctgtcatccaa																										TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:7578213_7578214delAA	ENST00000420246.2	-	6	767_768	c.635_636delTT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.F212fs*3(12)|p.0?(8)|p.?(5)|p.R213fs*35(3)|p.F212S(2)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.F212Y(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)		CACTATGTCGAAAAGTGTTTCT	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)			-	7578214	AA	-	7578213	7	5	464	1	0	1	0	1	0	0	0	0	16482	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	AA	TCGA-E1-A7Z4-01A-11D-A34J-08		7578213	73616997	21	44111											
CD79B	974	broad.mit.edu	37	chr17	62007606	62007606	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttttccagcttcagctgctgGggattctcgtccatctcctg	4	15	9	13	1	3	0	1	0	2	0	7	1	5	1	3	2	3	3	3	2	0	4			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr17:62007606G>C	ENST00000006750.3	-	3	350	c.258C>G	c.(256-258)ccC>ccG	p.P86P	CD79B_ENST00000349817.2_Intron|CD79B_ENST00000392795.3_Silent_p.P87P	NM_000626.2|NM_021602.2	NP_000617.1|NP_067613.1	P40259	CD79B_HUMAN	CD79b molecule, immunoglobulin-associated beta	86	Ig-like V-type.				cell surface receptor linked signaling pathway|immune response	Golgi apparatus|integral to plasma membrane|nucleus	transmembrane receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	15						TCAGCTGCTGGGGATTCTCGT	0.562			"Mis, O"		DLBCL								C	62007606	G	C	62007606	2	2	464	1	0	0	0	0	0	0	0	1	3067	1219	43	4		4	CD79B	17	62007606	Silent	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08	54429393	62007606	19187604	22	44112											
ENOSF1	55556	broad.mit.edu	37	chr18	677371	677371	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaggcttgcagaaactgaTatgtagtcaaatataatcag	16	11	8	6	0	3	2	3	1	0	1	3	2	3	2	0	1	2	3	0	1	7	5			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr18:677371T>C	ENST00000319815.6	-	6	1696	c.432A>G	c.(430-432)atA>atG	p.I144M	ENOSF1_ENST00000340116.7_Missense_Mutation_p.I381M|ENOSF1_ENST00000251101.7_Missense_Mutation_p.I374M|ENOSF1_ENST00000580982.1_Missense_Mutation_p.I298M|ENOSF1_ENST00000383578.3_Missense_Mutation_p.I292M|ENOSF1_ENST00000583973.1_5'UTR			Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	374					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						CAGAAACTGATATGTAGTCAA	0.423													C	677371	T	C	677371	3	2	464	1	0	0	0	0	1	0	0	0	5166	1396	49	3	221	3	ENOSF1	18	677371	Missense_Mutation	SNP	T	TCGA-E1-A7Z4-01A-11D-A34J-08		677371	77399877	23	44113											
SSBP4	170463	broad.mit.edu	37	chr19	18541701	18541701	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagtatggccccaggtgaCacaatggccgcaggctccat	9	6	14	12	1	0	1	0	1	0	0	1	2	1	2	4	5	0	3	4	5	2	1			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:18541701C>A	ENST00000270061.7	+	5	624	c.330C>A	c.(328-330)gaC>gaA	p.D110E	SSBP4_ENST00000348495.6_Missense_Mutation_p.D110E|SSBP4_ENST00000598159.2_3'UTR	NM_032627.4	NP_116016.1	Q9BWG4	SSBP4_HUMAN	single stranded DNA binding protein 4							nucleus	single-stranded DNA binding			endometrium(2)|kidney(1)|skin(1)	4						CCCCAGGTGACACAATGGCCG	0.647													A	18541701	C	A	18541701	3	1	464	1	0	0	0	0	1	0	0	0	15278	477	17	4	348	4	SSBP4	19	18541701	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08		18541701	40587282	24	44114											
CCDC114	93233	broad.mit.edu	37	chr19	48806994	48806994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgtcctcgtagcaaagcaCcagcctctcctgggaggtct	7	8	12	14	2	2	0	0	0	2	0	5	1	3	1	4	3	3	3	4	3	2	1			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chr19:48806994C>T	ENST00000315396.7	-	8	1472	c.790G>A	c.(790-792)Gtg>Atg	p.V264M		NM_144577.3	NP_653178.3	Q96M63	CC114_HUMAN	coiled-coil domain containing 114	264										cervix(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)	24		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0228)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000162)|Epithelial(262;0.0134)|GBM - Glioblastoma multiforme(486;0.0143)		TAGCAAAGCACCAGCCTCTCC	0.622													T	48806994	C	T	48806994	3	4	464	1	0	0	0	0	1	0	0	0	2777	507	18	2	1250	2	CCDC114	19	48806994	Missense_Mutation	SNP	C	TCGA-E1-A7Z4-01A-11D-A34J-08	30265293	48806994	10321989	25	44115											
MBTPS2	51360	broad.mit.edu	37	chrX	21857869	21857871	+	In_Frame_Del	DEL	TGG	TGG	-																															cgccatgattccggtgtcgcTggtggtggtggtggtgggtg																										TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:21857869_21857871delTGG	ENST00000365779.2	+	1	98_100	c.17_19delTGG	c.(16-21)ctggtg>ctg	p.V11del	MBTPS2_ENST00000465888.1_3'UTR|MBTPS2_ENST00000379484.5_In_Frame_Del_p.V11del			O43462	MBTP2_HUMAN	membrane-bound transcription factor peptidase, site 2	11					cholesterol metabolic process|proteolysis	Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity			breast(2)|endometrium(3)|large_intestine(3)|lung(13)|ovary(1)|skin(2)	24						CCGGTGTCGCTGGTGGTGGTGGT	0.685													-	21857871	TGG	-	21857869	7	5	464	1	0	1	0	1	0	0	0	0	9437	1580	55	0	19	0	MBTPS2	23	21857869	In_Frame_Del	DEL	TGG	TCGA-E1-A7Z4-01A-11D-A34J-08		21857869	133412691	26	44116											
ATRX	546	broad.mit.edu	37	chrX	76938562	76938562	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagcatttcatcagaatctGaattttgatccacagtctct	11	15	5	10	0	4	3	2	2	2	1	6	3	5	3	1	0	1	1	1	0	3	4			TCGA-E1-A7Z4-01A-11D-A34J-08	TCGA-E1-A7Z4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	dae08874-26ee-4ced-ab72-c2e1272f0140	606721a2-1d09-4bc6-9ebd-26abaf0a327e	g.chrX:76938562G>C	ENST00000373344.5	-	9	2400	c.2186C>G	c.(2185-2187)tCa>tGa	p.S729*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S691*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	729					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)	ATCAGAATCTGAATTTTGATC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76938562	G	C	76938562	4	2	464	1	0	0	0	0	0	1	0	0	1213	1294	45	4	5400	4	ATRX	23	76938562	Nonsense_Mutation	SNP	G	TCGA-E1-A7Z4-01A-11D-A34J-08	55080693	76938562	78331998	27	44117											
UROD	7389	broad.mit.edu	37	chr1	45480412	45480412	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgcttttttctagatcaTctttgctaaggatgggcatt	8	18	8	7	0	4	1	1	0	3	1	4	2	4	2	0	2	2	3	0	2	2	7			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:45480412T>C	ENST00000246337.4	+	8	898	c.779T>C	c.(778-780)aTc>aCc	p.I260T	UROD_ENST00000494399.1_3'UTR	NM_000374.4	NP_000365.3	P06132	DCUP_HUMAN	uroporphyrinogen decarboxylase	260			I -> T (in FPCT; decrease of activity).			cytosol|microtubule cytoskeleton|nucleus	uroporphyrinogen decarboxylase activity			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TTCTAGATCATCTTTGCTAAG	0.522									Porphyria Cutanea Tarda, Type II		OREG0013449	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	45480412	T	C	45480412	3	2	465	1	0	0	0	0	1	0	0	0	17131	1435	50	3	809	3	UROD	1	45480412	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08		45480412	203770209	1	44118											
OR10J5	127385	broad.mit.edu	37	chr1	159505472	159505472	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagcaggaagcaattattaGtggccaagataacaaaaaag	20	7	9	5	0	0	1	0	0	0	1	0	2	0	2	1	2	3	2	1	2	10	4			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:159505472G>C	ENST00000334857.2	-	1	370	c.326C>G	c.(325-327)aCt>aGt	p.T109S		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	109					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GCAATTATTAGTGGCCAAGAT	0.458													C	159505472	G	C	159505472	3	2	465	1	0	0	0	0	1	0	0	0	10988	1029	36	4	605	4	OR10J5	1	159505472	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	114025060	159505472	89745149	2	44119											
CACYBP	27101	broad.mit.edu	37	chr1	174973950	174973950	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccattacaacgggctatacGgtgaaaatcagtaattatgg	14	10	9	8	2	1	1	1	1	0	0	1	1	1	1	1	3	3	2	1	3	8	5			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr1:174973950G>A	ENST00000406752.1	+	2	216	c.216G>A	c.(214-216)acG>acA	p.T72T	CACYBP_ENST00000367681.2_Silent_p.T29T|CACYBP_ENST00000405362.1_Silent_p.T29T|CACYBP_ENST00000367679.2_Silent_p.T72T			Q9HB71	CYBP_HUMAN	calcyclin binding protein	72	Interaction with SIAH1.					beta-catenin destruction complex	protein homodimerization activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	11						CGGGCTATACGGTGAAAATCA	0.413													A	174973950	G	A	174973950	5	1	465	1	0	0	0	0	0	0	1	0	2590	1103	39	1	222	1	CACYBP	1	174973950	Splice_Site	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	15468478	174973950	74276671	3	44120											
TPO	7173	broad.mit.edu	37	chr2	1437212	1437212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctttatgtgccatagaaAcctcaagaaaagaggaatcc	15	10	7	9	0	2	3	1	0	1	3	3	4	3	4	3	1	2	0	3	1	7	4			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:1437212A>G	ENST00000345913.4	+	4	273	c.182A>G	c.(181-183)aAc>aGc	p.N61S	TPO_ENST00000539820.1_Missense_Mutation_p.N61S|TPO_ENST00000382269.3_Missense_Mutation_p.N61S|TPO_ENST00000329066.4_Missense_Mutation_p.N61S|TPO_ENST00000382201.3_Missense_Mutation_p.N61S|TPO_ENST00000349624.3_Missense_Mutation_p.N61S|TPO_ENST00000346956.3_Missense_Mutation_p.N61S|TPO_ENST00000337415.3_Missense_Mutation_p.N61S|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.N61S	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	61					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TGCCATAGAAACCTCAAGAAA	0.363													G	1437212	A	G	1437212	3	3	465	1	0	0	0	0	1	0	0	0	16511	43	2	3	192	3	TPO	2	1437212	Missense_Mutation	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08		1437212	241762161	4	44121											
ANKRD36	375248	broad.mit.edu	37	chr2	97877449	97877449	+	Frame_Shift_Del	DEL	A	A	-																															tgttccgaatatggccacggAaaaaaaggatgaacaaatat																										TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:97877449delA	ENST00000420699.2	+	58	3684	c.3440delA	c.(3439-3441)gaafs	p.E1147fs	ANKRD36_ENST00000461153.2_Frame_Shift_Del_p.E1147fs	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1147										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						ATGGCCACGGAAAAAAAGGAT	0.333													-	97877449	A	-	97877449	7	5	465	1	0	1	0	1	0	0	0	0	665	246	9	0	3670	0	ANKRD36	2	97877449	Frame_Shift_Del	DEL	A	TCGA-E1-A7Z6-01A-11D-A34J-08	96440237	97877449	145321924	5	44122											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	465	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08	111235663	209113112	34086261	6	44123											
COL6A6	131873	broad.mit.edu	37	chr3	130285651	130285651	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacgttcctgtcagaggtggTagggatgttcaacattgctc	8	12	13	8	1	2	1	2	0	0	1	4	3	3	2	1	3	2	4	1	3	2	4			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr3:130285651T>C	ENST00000358511.6	+	4	1419	c.1388T>C	c.(1387-1389)gTa>gCa	p.V463A	COL6A6_ENST00000453409.2_Missense_Mutation_p.V463A	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	463	Nonhelical region.|VWFA 3.				axon guidance|cell adhesion	collagen				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						TCAGAGGTGGTAGGGATGTTC	0.498													C	130285651	T	C	130285651	3	2	465	1	0	0	0	0	1	0	0	0	3734	1638	57	3	1402	3	COL6A6	3	130285651	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08		130285651	67736779	7	44124											
ANK2	287	broad.mit.edu	37	chr4	114239726	114239726	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcgcctaagctggggCactgagaacttagacaacgt	11	10	10	10	2	1	2	0	1	1	2	2	3	1	2	1	2	3	2	1	2	5	3			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr4:114239726C>T	ENST00000357077.4	+	26	2903	c.2850C>T	c.(2848-2850)ggC>ggT	p.G950G	ANK2_ENST00000394537.3_Silent_p.G950G|ANK2_ENST00000506722.1_Silent_p.G929G|ANK2_ENST00000509550.1_Silent_p.G159G|ANK2_ENST00000264366.6_Silent_p.G950G	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	950					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TAAGCTGGGGCACTGAGAACT	0.403													T	114239726	C	T	114239726	2	4	465	1	0	0	0	0	0	0	0	1	621	697	25	2		2	ANK2	4	114239726	Silent	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		114239726	76914550	8	44125											
RPP40	10799	broad.mit.edu	37	chr6	5002336	5002336	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catttcaggtttttcttaccTttctttataaaggtactgat	9	20	5	7	0	3	1	1	1	2	0	3	1	3	1	1	2	2	2	1	2	5	9			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr6:5002336T>A	ENST00000380051.2	-	2	311	c.267A>T	c.(265-267)aaA>aaT	p.K89N	RPP40_ENST00000319533.5_Splice_Site_p.K89N|RPP40_ENST00000464646.1_Splice_Site_p.K29N	NM_006638.2	NP_006629.2	O75818	RPP40_HUMAN	ribonuclease P/MRP 40kDa subunit	89					tRNA processing	nucleolar ribonuclease P complex	protein binding|ribonuclease P activity			NS(1)|breast(1)|large_intestine(4)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	14	Ovarian(93;0.11)	all_hematologic(90;0.0895)				TTTTCTTACCTTTCTTTATAA	0.408													A	5002336	T	A	5002336	5	1	465	1	0	0	0	0	0	0	1	0	13705	1623	56	5	852	5	RPP40	6	5002336	Splice_Site	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08		5002336	166112731	9	44126											
SMARCD3	6604	broad.mit.edu	37	chr7	150945585	150945585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actcaccaccccatggaccaGaaactcaaaaagtttgcttt	14	9	5	13	0	2	1	2	0	0	1	2	2	2	2	4	1	2	2	4	1	3	2			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr7:150945585G>C	ENST00000262188.8	-	1	474	c.64C>G	c.(64-66)Ctg>Gtg	p.L22V	SMARCD3_ENST00000356800.2_Intron|SMARCD3_ENST00000392811.2_Intron|SMARCD3_ENST00000477169.1_Intron	NM_001003801.1	NP_001003801.1	Q6STE5	SMRD3_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3	22					cellular lipid metabolic process|chromatin modification|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	nuclear hormone receptor binding|protein binding|transcription coactivator activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(6)|ovary(2)	15			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCATGGACCAGAAACTCAAAA	0.647													C	150945585	G	C	150945585	3	2	465	1	0	0	0	0	1	0	0	0	14873	933	33	4	1439	4	SMARCD3	7	150945585	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		150945585	8193078	10	44127											
SGCZ	137868	broad.mit.edu	37	chr8	14181681	14181681	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataccttcaagtcggattccCttcttggtgactctcagatt	8	15	7	11	1	3	2	2	1	2	1	6	3	4	3	2	2	1	0	2	2	2	6			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr8:14181681C>T	ENST00000382080.1	-	3	982	c.267G>A	c.(265-267)aaG>aaA	p.K89K	SGCZ_ENST00000421524.2_Intron	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	76					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		GTCGGATTCCCTTCTTGGTGA	0.358													T	14181681	C	T	14181681	2	4	465	1	0	0	0	0	0	0	0	1	14297	680	24	2		2	SGCZ	8	14181681	Silent	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		14181681	132182341	11	44128											
PTPRD	5789	broad.mit.edu	37	chr9	8341765	8341765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttctgaatgtaggcataCaagtttctagctggcacttc	10	13	9	9	0	2	1	0	1	2	0	3	1	2	1	0	2	3	6	0	2	5	6			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:8341765C>T	ENST00000381196.4	-	37	5418	c.4875G>A	c.(4873-4875)ttG>ttA	p.L1625L	PTPRD_ENST00000356435.5_Silent_p.L1625L|PTPRD_ENST00000397617.3_Silent_p.L1218L|PTPRD_ENST00000397606.3_Silent_p.L1218L|PTPRD_ENST00000397611.3_Silent_p.L1215L|PTPRD_ENST00000537002.1_Silent_p.L1215L|PTPRD_ENST00000360074.4_Silent_p.L1612L|PTPRD_ENST00000358503.5_Silent_p.L1603L|PTPRD_ENST00000355233.5_Silent_p.L1219L|PTPRD_ENST00000486161.1_Silent_p.L1218L|PTPRD_ENST00000540109.1_Silent_p.L1625L	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1625					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TGTAGGCATACAAGTTTCTAG	0.403										TSP Lung(15;0.13)			T	8341765	C	T	8341765	2	4	465	1	0	0	0	0	0	0	0	1	12887	477	17	2		2	PTPRD	9	8341765	Silent	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		8341765	132871666	12	44129											
DOLK	22845	broad.mit.edu	37	chr9	131708674	131708674	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggtggccagcagagaccaAtaggctaggaggtagatgcg	13	5	16	7	1	0	2	0	0	0	2	0	4	0	3	2	5	2	3	2	5	5	3			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr9:131708674A>G	ENST00000372586.3	-	1	1224	c.909T>C	c.(907-909)taT>taC	p.Y303Y	RP11-101E3.5_ENST00000482796.1_Intron	NM_014908.3	NP_055723.1	Q9UPQ8	DOLK_HUMAN	dolichol kinase	303					dolichyl diphosphate biosynthetic process|dolichyl monophosphate biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to endoplasmic reticulum membrane|membrane fraction	dolichol kinase activity			breast(1)|large_intestine(5)|lung(3)|ovary(1)|urinary_tract(1)	11						GCAGAGACCAATAGGCTAGGA	0.602													G	131708674	A	G	131708674	2	3	465	1	0	0	0	0	0	0	0	1	4742	108	4	3		3	DOLK	9	131708674	Silent	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08	123366909	131708674	9504757	13	44130											
FAM181B	220382	broad.mit.edu	37	chr11	82444517	82444517	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccttccgcttcgacttGcccggcttgtccagcgccag	4	11	9	17	4	1	0	1	0	0	0	4	1	3	0	5	1	2	2	5	1	0	5			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:82444517G>C	ENST00000329203.3	-	1	389	c.255C>G	c.(253-255)ggC>ggG	p.G85G		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	85										large_intestine(1)|lung(2)|prostate(1)	4						GCTTCGACTTGCCCGGCTTGT	0.677													C	82444517	G	C	82444517	2	2	465	1	0	0	0	0	0	0	0	1	5555	1306	46	4		4	FAM181B	11	82444517	Silent	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		82444517	52561999	14	44131											
NPAT	4863	broad.mit.edu	37	chr11	108043104	108043104	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggatcagtcacacaggtAgctatcagaatgttatttga	12	13	10	6	0	3	2	3	1	0	1	3	3	3	3	0	2	1	4	0	2	4	5			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr11:108043104A>G	ENST00000278612.8	-	13	2712	c.2607T>C	c.(2605-2607)gcT>gcC	p.A869A	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	869					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TCACACAGGTAGCTATCAGAA	0.433													G	108043104	A	G	108043104	2	3	465	1	0	0	0	0	0	0	0	1	10642	407	15	3		3	NPAT	11	108043104	Silent	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08	25598587	108043104	26963412	15	44132											
NUP107	57122	broad.mit.edu	37	chr12	69085759	69085759	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttttaaggttactaatctGgatgacagtaactgggcagc	11	14	10	6	0	1	1	0	1	1	0	1	2	1	2	0	3	3	3	0	3	4	6			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr12:69085759G>C	ENST00000229179.4	+	5	647	c.315G>C	c.(313-315)ctG>ctC	p.L105L	NUP107_ENST00000378905.2_Intron|NUP107_ENST00000539906.1_Silent_p.L76L	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	105					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			TTACTAATCTGGATGACAGTA	0.368													C	69085759	G	C	69085759	2	2	465	1	0	0	0	0	0	0	0	1	10829	1335	47	4		4	NUP107	12	69085759	Silent	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		69085759	64766136	16	44133											
ACSM5	54988	broad.mit.edu	37	chr16	20422897	20422897	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaagccagcacctctacctGttcctcagaagatcgtggcc	9	8	10	14	1	2	2	1	0	1	2	4	3	3	3	5	2	3	2	5	2	3	2			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr16:20422897G>C	ENST00000331849.4	+	2	238	c.91G>C	c.(91-93)Gtt>Ctt	p.V31L	ACSM5_ENST00000575584.1_Missense_Mutation_p.V31L	NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	31					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACCTCTACCTGTTCCTCAGAA	0.577													C	20422897	G	C	20422897	3	2	465	1	0	0	0	0	1	0	0	0	187	1377	48	4	93	4	ACSM5	16	20422897	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		20422897	69931856	17	44134											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	465	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08		7577121	73618089	18	44135											
UTP6	55813	broad.mit.edu	37	chr17	30216366	30216366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgaagaaatagttgccttgCgctttctgaagacaatcgat	12	11	10	8	3	1	3	0	1	1	2	2	5	1	3	1	0	2	2	1	0	5	4			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:30216366C>T	ENST00000261708.4	-	7	618	c.481G>A	c.(481-483)Gca>Aca	p.A161T	UTP6_ENST00000490218.2_5'UTR	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	161					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				AGTTGCCTTGCGCTTTCTGAA	0.393													T	30216366	C	T	30216366	3	4	465	1	0	0	0	0	1	0	0	0	17204	768	27	1	1364	1	UTP6	17	30216366	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08	22639245	30216366	50978844	19	44136											
KRT33A	3883	broad.mit.edu	37	chr17	39502820	39502820	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtcactgcggatctccGccagctgggactccacgttg	6	8	12	15	3	2	0	1	0	1	0	4	2	3	2	4	3	2	2	4	3	0	1			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr17:39502820G>A	ENST00000007735.3	-	6	1021	c.977C>T	c.(976-978)gCg>gTg	p.A326V		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	326	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				GCGGATCTCCGCCAGCTGGGA	0.627													A	39502820	G	A	39502820	3	1	465	1	0	0	0	0	1	0	0	0	8527	1087	38	1	245	1	KRT33A	17	39502820	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	9286454	39502820	41692390	20	44137											
DSG2	1829	broad.mit.edu	37	chr18	29102206	29102206	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccagtgttaccttggaCagagaggtaagttaatatgt	14	11	10	6	0	0	1	0	0	0	1	0	3	0	2	2	2	2	3	2	2	5	5			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chr18:29102206C>A	ENST00000261590.8	+	6	893	c.684C>A	c.(682-684)gaC>gaA	p.D228E	DSG2_ENST00000585206.1_Missense_Mutation_p.D228E	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	228	Cadherin 2.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TTACCTTGGACAGAGAGGTAA	0.348													A	29102206	C	A	29102206	3	1	465	1	0	0	0	0	1	0	0	0	4816	477	17	4	706	4	DSG2	18	29102206	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		29102206	48975042	21	44138											
MTMR8	55613	broad.mit.edu	37	chrX	63563595	63563595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cattgttggagttttcaattCacaaactaaggtagaaaagg	15	12	9	5	0	2	1	2	0	0	1	2	2	2	2	0	3	1	3	0	3	6	7			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:63563595C>G	ENST00000374852.3	-	8	938	c.871G>C	c.(871-873)Gaa>Caa	p.E291Q	MTMR8_ENST00000478487.1_5'UTR|MTMR8_ENST00000453546.1_Missense_Mutation_p.E291Q	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	291	Myotubularin phosphatase.					nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTTCAATTCACAAACTAAG	0.383													G	63563595	C	G	63563595	3	3	465	1	0	0	0	0	1	0	0	0	10025	835	29	4	1271	4	MTMR8	23	63563595	Missense_Mutation	SNP	C	TCGA-E1-A7Z6-01A-11D-A34J-08		63563595	91706965	22	44139											
RGAG4	340526	broad.mit.edu	37	chrX	71350457	71350457	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggataggcttgggaacgcGcacttttctttctatctcca	7	13	10	11	3	3	0	0	0	3	0	4	2	3	2	1	3	1	2	1	3	3	6			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:71350457G>A	ENST00000545866.1	-	1	1301	c.934C>T	c.(934-936)Cgc>Tgc	p.R312C	RGAG4_ENST00000609883.1_Missense_Mutation_p.R312C|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	312										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TTGGGAACGCGCACTTTTCTT	0.483													A	71350457	G	A	71350457	3	1	465	1	0	0	0	0	1	0	0	0	13363	1087	38	1	779	1	RGAG4	23	71350457	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	7786862	71350457	83920103	23	44140											
ATRX	546	broad.mit.edu	37	chrX	76939469	76939470	+	Frame_Shift_Del	DEL	TC	TC	-																															tttatgctctttggtattttTctctttgtttacagcatcca																										TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:76939469_76939470delTC	ENST00000373344.5	-	9	1492_1493	c.1278_1279delGA	c.(1276-1281)gagaaafs	p.K427fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K389fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	427					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)	TTGGTATTTTTCTCTTTGTTTA	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939470	TC	-	76939469	7	5	465	1	0	1	0	1	0	0	0	0	1213	1792	62	0	6307	0	ATRX	23	76939469	Frame_Shift_Del	DEL	TC	TCGA-E1-A7Z6-01A-11D-A34J-08	5589012	76939469	78331091	24	44141											
MORC4	79710	broad.mit.edu	37	chrX	106229295	106229295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtctgtgatagaagtccAacagtgagagtacccccatt	12	10	10	9	0	1	3	0	2	1	2	2	4	2	3	3	1	2	1	3	1	5	4			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:106229295A>G	ENST00000355610.4	-	4	718	c.444T>C	c.(442-444)gtT>gtC	p.V148V	MORC4_ENST00000255495.7_Silent_p.V148V|MORC4_ENST00000535534.1_Intron	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	148							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						ATAGAAGTCCAACAGTGAGAG	0.473													G	106229295	A	G	106229295	2	3	465	1	0	0	0	0	0	0	0	1	9780	117	5	3		3	MORC4	23	106229295	Silent	SNP	A	TCGA-E1-A7Z6-01A-11D-A34J-08	29289826	106229295	49041265	25	44142											
COL4A5	1287	broad.mit.edu	37	chrX	107938635	107938635	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccaactcctacagctttTggctggcaactgtagatgtg	9	12	10	10	0	0	1	0	0	0	1	1	1	1	1	2	2	5	4	2	2	4	4			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:107938635T>C	ENST00000328300.6	+	52	5204	c.4960T>C	c.(4960-4962)Tgg>Cgg	p.W1654R	COL4A5_ENST00000361603.2_Missense_Mutation_p.W1648R	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1648	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTACAGCTTTTGGCTGGCAAC	0.473									Alport syndrome with Diffuse Leiomyomatosis				C	107938635	T	C	107938635	3	2	465	1	0	0	0	0	1	0	0	0	3725	1812	63	3	5151	3	COL4A5	23	107938635	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08	1709340	107938635	47331925	26	44143											
ZCCHC16	340595	broad.mit.edu	37	chrX	111698669	111698669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccattgttggcttcctTgatccaacaccaagccctct	7	12	6	16	0	1	1	0	1	1	0	4	1	4	1	5	1	2	3	5	1	2	4			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:111698669T>C	ENST00000340433.2	+	1	943	c.713T>C	c.(712-714)tTg>tCg	p.L238S		NM_001004308.2	NP_001004308.2	Q6ZR62	ZCH16_HUMAN	zinc finger, CCHC domain containing 16	238							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						TTGGCTTCCTTGATCCAACAC	0.542													C	111698669	T	C	111698669	3	2	465	1	0	0	0	0	1	0	0	0	17685	1821	63	3	715	3	ZCCHC16	23	111698669	Missense_Mutation	SNP	T	TCGA-E1-A7Z6-01A-11D-A34J-08	3760034	111698669	43571891	27	44144											
SLC25A5	292	broad.mit.edu	37	chrX	118603879	118603879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggcatcgggtggtgccGcaggggccacatccctgtgt	5	9	15	12	2	1	0	0	0	1	0	3	0	2	0	3	5	1	2	3	5	0	0			TCGA-E1-A7Z6-01A-11D-A34J-08	TCGA-E1-A7Z6-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97b400be-5f0e-4a7b-85d0-5eb0c777f114	8283b058-d6c7-4250-b9b5-bf996e71f287	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	123					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGGTGGTGCCGCAGGGGCCAC	0.527													A	118603879	G	A	118603879	3	1	465	1	0	0	0	0	1	0	0	0	14606	1087	38	1	373	1	SLC25A5	23	118603879	Missense_Mutation	SNP	G	TCGA-E1-A7Z6-01A-11D-A34J-08	6905210	118603879	36666681	28	44145											
YIPF1	54432	broad.mit.edu	37	chr1	54354658	54354658	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggaagaaaatttgcagggTtctaaaagaaaaaaataggt	20	8	11	2	0	1	2	0	0	1	2	1	4	1	3	0	3	1	2	0	3	9	4	rs2294508	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:54354658T>G	ENST00000539954.1	-	2	185	c.28A>C	c.(28-30)Acc>Ccc	p.T10P	YIPF1_ENST00000072644.1_5'UTR|YIPF1_ENST00000469457.1_5'UTR|YIPF1_ENST00000371399.1_Intron			Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	0						integral to membrane|transport vesicle				endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						ATTTGCAGGGTTCTAAAAGAA	0.398													G	54354658	T	G	54354658	5	3	466	1	0	0	0	0	0	0	1	0	17579	1739	60	5		5	YIPF1	1	54354658	Splice_Site	SNP	T	TCGA-EZ-7264-01A-11D-2024-08		54354658	194895963	1	44146											
FUBP1	8880	broad.mit.edu	37	chr1	78425869	78425869	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaataataagcatcttctacCtggatcaggaggagcctgct	13	10	9	9	0	3	0	1	0	2	0	3	3	3	3	2	3	4	2	2	3	4	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr1:78425869C>G	ENST00000370767.1	-	16	1663	c.1576G>C	c.(1576-1578)Gct>Cct	p.A526P	FUBP1_ENST00000370768.2_Splice_Site_p.A526P|FUBP1_ENST00000436586.2_Splice_Site_p.A547P			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	526	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCTTCTACCTGGATCAGGA	0.413			"F, N"		oligodendroglioma								G	78425869	C	G	78425869	5	3	466	1	0	0	0	0	0	0	1	0	6144	695	24	4	378	4	FUBP1	1	78425869	Splice_Site	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	24071211	78425869	170824752	2	44147											
APOB	338	broad.mit.edu	37	chr2	21234703	21234703	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgttaatttcatagatgcCccagagaggccaagctctgc	10	11	10	10	0	2	2	1	0	1	2	2	3	2	2	3	1	3	3	3	1	3	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:21234703C>T	ENST00000233242.1	-	26	5164	c.5037G>A	c.(5035-5037)ggG>ggA	p.G1679G		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1679					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGATGCCCCAGAGAGGC	0.493													T	21234703	C	T	21234703	2	4	466	1	0	0	0	0	0	0	0	1	788	610	22	2		2	APOB	2	21234703	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		21234703	221964670	3	44148											
OTOF	9381	broad.mit.edu	37	chr2	26696893	26696893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgagcacgggccggatgCccatgggcacgggcatgatg	7	6	17	11	3	0	2	0	2	0	0	0	3	0	3	2	4	3	4	2	4	0	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:26696893C>G	ENST00000272371.2	-	27	3500	c.3374G>C	c.(3373-3375)gGc>gCc	p.G1125A	OTOF_ENST00000339598.3_Missense_Mutation_p.G378A|OTOF_ENST00000338581.6_Missense_Mutation_p.G378A|OTOF_ENST00000403946.3_Missense_Mutation_p.G1125A|OTOF_ENST00000402415.3_Missense_Mutation_p.G435A	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1125					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGGCCGGATGCCCATGGGCAC	0.647													G	26696893	C	G	26696893	3	3	466	1	0	0	0	0	1	0	0	0	11379	739	26	4	2884	4	OTOF	2	26696893	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	5462190	26696893	216502480	4	44149											
ARHGEF4	50649	broad.mit.edu	37	chr2	131802995	131802995	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatgctgaatgccagcaagCagcaggtcacagggaagccc	12	4	12	13	0	1	1	1	1	0	0	1	2	1	2	3	2	6	4	3	2	3	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:131802995C>A	ENST00000392953.3	+	13	2416	c.1897C>A	c.(1897-1899)Cag>Aag	p.Q633K	ARHGEF4_ENST00000525839.1_Missense_Mutation_p.Q633K|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.Q573K|ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.Q562K|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.Q633K	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	633					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		TGCCAGCAAGCAGCAGGTCAC	0.617													A	131802995	C	A	131802995	3	1	466	1	0	0	0	0	1	0	0	0	911	711	25	4	1939	4	ARHGEF4	2	131802995	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	105106102	131802995	111396378	5	44150											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	466	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	77310117	209113112	34086261	6	44151											
CPS1	1373	broad.mit.edu	37	chr2	211471549	211471549	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgttgttcgccacttgggCattgtgggtgaatgcaacat	9	13	12	7	1	0	1	0	1	0	0	1	1	0	1	1	2	2	4	1	2	3	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:211471549C>T	ENST00000233072.5	+	18	2272	c.2076C>T	c.(2074-2076)ggC>ggT	p.G692G	CPS1_ENST00000430249.2_Silent_p.G698G|CPS1_ENST00000451903.2_Silent_p.G241G	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	692	ATP-grasp 1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCCACTTGGGCATTGTGGGTG	0.478													T	211471549	C	T	211471549	2	4	466	1	0	0	0	0	0	0	0	1	3854	697	25	2		2	CPS1	2	211471549	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	2358437	211471549	31727824	7	44152											
CCDC108	255101	broad.mit.edu	37	chr2	219900291	219900291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctcccagcctttccaatgCagctcctcagccacctcaat	9	9	5	18	0	2	0	2	0	0	0	5	0	5	0	6	0	5	3	6	0	2	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr2:219900291C>T	ENST00000341552.5	-	5	536	c.453G>A	c.(451-453)ctG>ctA	p.L151L	CCDC108_ENST00000324264.6_Silent_p.L86L|CCDC108_ENST00000295729.2_Silent_p.L86L|CCDC108_ENST00000410037.1_Silent_p.L86L|CCDC108_ENST00000453220.1_Silent_p.L151L|CCDC108_ENST00000441968.1_Silent_p.L151L|CCDC108_ENST00000409865.3_Silent_p.L140L	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	151						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTCCAATGCAGCTCCTCAG	0.502													T	219900291	C	T	219900291	2	4	466	1	0	0	0	0	0	0	0	1	2769	697	25	2		2	CCDC108	2	219900291	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	8428742	219900291	23299082	8	44153											
ADAMTS9	56999	broad.mit.edu	37	chr3	64607885	64607885	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagataccttggcagggtTtactgcatgcttgccatggc	8	11	12	10	0	0	1	0	0	0	1	0	1	0	1	2	3	6	5	2	3	2	5			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr3:64607885T>C	ENST00000498707.1	-	18	3017	c.2675A>G	c.(2674-2676)aAa>aGa	p.K892R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.K864R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	892	TSP type-1 2.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TTGGCAGGGTTTACTGCATGC	0.363													C	64607885	T	C	64607885	3	2	466	1	0	0	0	0	1	0	0	0	273	1841	64	3	3220	3	ADAMTS9	3	64607885	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08		64607885	133414545	9	44154											
HK3	3101	broad.mit.edu	37	chr5	176310845	176310845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccccaccgtgtcattgacaAtggcaaccacattcagctcc	10	9	6	16	1	2	1	2	1	0	0	4	1	4	1	5	1	2	2	5	1	2	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr5:176310845A>G	ENST00000292432.5	-	15	2070	c.1979T>C	c.(1978-1980)aTt>aCt	p.I660T		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	660	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTCATTGACAATGGCAACCAC	0.582													G	176310845	A	G	176310845	3	3	466	1	0	0	0	0	1	0	0	0	7247	101	4	3	812	3	HK3	5	176310845	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08		176310845	4604415	10	44155											
ATXN1	6310	broad.mit.edu	37	chr6	16327718	16327718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcgtgtgtgggatcatcGtctggtgggggtggaggtgg	4	11	22	4	2	2	1	1	1	1	0	3	3	2	3	0	7	1	0	0	7	0	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:16327718G>A	ENST00000244769.4	-	8	1760	c.824C>T	c.(823-825)aCg>aTg	p.T275M	ATXN1_ENST00000436367.1_Missense_Mutation_p.T275M	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	275					cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				TGGGATCATCGTCTGGTGGGG	0.652													A	16327718	G	A	16327718	3	1	466	1	0	0	0	0	1	0	0	0	1214	1145	40	1	1631	1	ATXN1	6	16327718	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		16327718	154787349	11	44156											
SLC35B2	347734	broad.mit.edu	37	chr6	44224548	44224548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgggtccatgactccggagGggcttcgggagtctccccac	5	8	14	14	2	1	1	0	1	1	0	5	3	3	3	4	5	0	1	4	5	0	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:44224548G>C	ENST00000393812.3	-	2	222	c.79C>G	c.(79-81)Cct>Gct	p.P27A	SLC35B2_ENST00000538577.1_5'UTR|SLC35B2_ENST00000537814.1_Intron|SLC35B2_ENST00000495706.1_Intron|SLC35B2_ENST00000393810.1_Missense_Mutation_p.P27A	NM_178148.2	NP_835361.1	Q8TB61	S35B2_HUMAN	solute carrier family 35 (adenosine 3'-phospho 5'-phosphosulfate transporter), member B2	27					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate transmembrane transporter activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	15	all_cancers(18;2e-05)|all_lung(25;0.00747)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			GACTCCGGAGGGGCTTCGGGA	0.582													C	44224548	G	C	44224548	3	2	466	1	0	0	0	0	1	0	0	0	14670	1232	43	4	1231	4	SLC35B2	6	44224548	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	27896830	44224548	126890519	12	44157											
THEMIS	387357	broad.mit.edu	37	chr6	128134187	128134187	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattgctcttcagtgatctcTtctaccagagtcctgactag	8	15	7	11	0	4	3	1	2	3	1	6	3	5	3	2	0	2	1	2	0	3	6			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr6:128134187T>C	ENST00000368250.1	-	5	1860	c.1362A>G	c.(1360-1362)gaA>gaG	p.E454E	THEMIS_ENST00000537166.1_Silent_p.E498E|THEMIS_ENST00000543064.1_Silent_p.E533E|THEMIS_ENST00000368248.2_Silent_p.E533E			Q8N1K5	THMS1_HUMAN	thymocyte selection associated	533	CABIT 2.				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CAGTGATCTCTTCTACCAGAG	0.468													C	128134187	T	C	128134187	2	2	466	1	0	0	0	0	0	0	0	1	15960	1606	56	3		3	THEMIS	6	128134187	Silent	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	83909639	128134187	42980880	13	44158											
EPPK1	83481	broad.mit.edu	37	chr8	144945118	144945118	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtgcgtgttggggtcGaagaagcccttggtgtcgtc	4	13	15	9	4	1	1	0	0	1	1	5	2	1	1	1	3	2	1	1	3	2	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr8:144945118G>T	ENST00000525985.1	-	2	2375	c.2304C>A	c.(2302-2304)ttC>ttA	p.F768L				P58107	EPIPL_HUMAN	epiplakin 1	768						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.F768F(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTTGGGGTCGAAGAAGCCCT	0.632													T	144945118	G	T	144945118	3	4	466	1	0	0	0	0	1	0	0	0	5231	1049	37	4	4962	4	EPPK1	8	144945118	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		144945118	1418904	14	44159											
ZNF883	169834	broad.mit.edu	37	chr9	115760587	115760587	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttattttttcatttttgtcGgtatgtaataggtgttggct	6	23	9	3	1	1	0	1	0	0	0	2	0	1	0	0	3	0	4	0	3	4	11	rs7036363	by1000genomes	TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:115760587G>A	ENST00000427548.1	-	0	1226							P0CG24	ZN883_HUMAN	zinc finger protein 883						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding										CATTTTTGTCGGTATGTAATA	0.289													A	115760587	G	A	115760587	1	1	466	0	1	0	0	0	0	0	0	0	18297	1131	39	1		1	ZNF883	9	115760587	RNA	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		115760587	25452844	15	44160											
STOM	2040	broad.mit.edu	37	chr9	124111437	124111437	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctctgtcagagaggatCtgagaaagattcttggtgcc	9	13	11	8	0	5	3	1	1	4	3	6	6	5	4	1	2	1	0	1	2	1	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr9:124111437C>A	ENST00000286713.2	-	5	503	c.486G>T	c.(484-486)caG>caT	p.Q162H	STOM_ENST00000347359.2_Intron|STOM_ENST00000538954.1_Missense_Mutation_p.Q111H	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	162					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		CAGAGAGGATCTGAGAAAGAT	0.478													A	124111437	C	A	124111437	3	1	466	1	0	0	0	0	1	0	0	0	15408	912	32	4	392	4	STOM	9	124111437	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	8350850	124111437	17101994	16	44161											
JMJD1C	221037	broad.mit.edu	37	chr10	64975203	64975203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggactatttgcttgggcacGtgtataatggctctaaaaat	11	13	11	6	1	1	0	0	0	1	0	1	1	1	1	0	3	1	4	0	3	6	6			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:64975203G>A	ENST00000399262.2	-	7	1053	c.835C>T	c.(835-837)Cgt>Tgt	p.R279C	JMJD1C_ENST00000399251.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000542921.1_Missense_Mutation_p.R97C|JMJD1C_ENST00000402544.1_Missense_Mutation_p.R60C|JMJD1C_ENST00000489372.2_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	279					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					GCTTGGGCACGTGTATAATGG	0.378													A	64975203	G	A	64975203	3	1	466	1	0	0	0	0	1	0	0	0	8008	1145	40	1	6867	1	JMJD1C	10	64975203	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		64975203	70559544	17	44162											
PDZD7	79955	broad.mit.edu	37	chr10	102789858	102789858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcttccttagcaggtatcgcGttgcggtggagcctgagtcg	5	11	15	10	4	0	1	0	1	0	0	3	2	1	2	2	3	3	4	2	3	2	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr10:102789858G>A	ENST00000370215.3	-	2	344	c.119C>T	c.(118-120)aCg>aTg	p.T40M	PDZD7_ENST00000470414.1_Missense_Mutation_p.T40M	NM_024895.4	NP_079171.1	Q9H5P4	PDZD7_HUMAN	PDZ domain containing 7	40						cilium|nucleus	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				Epithelial(162;6.98e-09)|all cancers(201;3.55e-07)		CAGGTATCGCGTTGCGGTGGA	0.657													A	102789858	G	A	102789858	3	1	466	1	0	0	0	0	1	0	0	0	11780	1145	40	1	1470	1	PDZD7	10	102789858	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	37814655	102789858	32744889	18	44163											
OR8K3	219473	broad.mit.edu	37	chr11	56086683	56086683	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagatgtaaaatatgccctaCgaaggacatggaataactta	18	9	8	6	1	0	1	0	0	0	1	0	4	0	3	1	2	3	1	1	2	9	5	rs141093095		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:56086683C>T	ENST00000312711.1	+	1	901	c.901C>T	c.(901-903)Cga>Tga	p.R301*		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	301					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R301*(1)		central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATATGCCCTACGAAGGACATG	0.323													T	56086683	C	T	56086683	4	4	466	1	0	0	0	0	0	1	0	0	11320	528	19	1	903	1	OR8K3	11	56086683	Nonsense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		56086683	78919833	19	44164											
PDZD3	79849	broad.mit.edu	37	chr11	119058335	119058335	+	Frame_Shift_Del	DEL	C	C	-																															cagctgagcgggcaggggtgCcccccggggcccggctgctg																										TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr11:119058335delC	ENST00000531114.1	+	4	1330	c.781delC	c.(781-783)cccfs	p.P262fs	PDZD3_ENST00000392817.2_Frame_Shift_Del_p.P262fs|PDZD3_ENST00000322712.4_Frame_Shift_Del_p.P196fs|PDZD3_ENST00000525131.1_Frame_Shift_Del_p.P183fs|PDZD3_ENST00000355547.5_Frame_Shift_Del_p.P196fs			Q86UT5	NHRF4_HUMAN	PDZ domain containing 3	262	PDZ 2.				cGMP-mediated signaling|ion transport|negative regulation of cGMP biosynthetic process|response to toxin|water transport	apical part of cell|brush border|cytosol|membrane fraction|subapical complex	guanylate cyclase inhibitor activity|ion channel inhibitor activity|protein C-terminus binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)	14	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;7.52e-05)		GGCAGGGGTGCCCCCCGGGGC	0.552													-	119058335	C	-	119058335	7	5	466	1	0	1	0	1	0	0	0	0	11778	739	26	0	605	0	PDZD3	11	119058335	Frame_Shift_Del	DEL	C	TCGA-EZ-7264-01A-11D-2024-08	62971652	119058335	15948181	20	44165											
DPY19L2	283417	broad.mit.edu	37	chr12	63994085	63994085	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttaactaaaaagtacttaCgtggtctgaaacgcctaaga	15	12	7	7	2	1	2	0	1	1	1	1	2	1	2	1	1	4	1	1	1	8	6			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr12:63994085C>T	ENST00000324472.4	-	13	1543		c.e13+1			NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)						multicellular organismal development|spermatid development	integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		AAAGTACTTACGTGGTCTGAA	0.308													T	63994085	C	T	63994085	5	4	466	1	0	0	0	0	0	0	1	0	4780	550	19	1	956	1	DPY19L2	12	63994085	Splice_Site	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		63994085	69857810	21	44166											
PRMT5	10419	broad.mit.edu	37	chr14	23390166	23390166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgaatagcagaacagaCtggtgctgtcacagcccact	12	9	10	10	0	1	3	1	1	0	2	1	3	1	3	1	1	4	3	1	1	4	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr14:23390166C>T	ENST00000324366.8	-	17	2084	c.1861G>A	c.(1861-1863)Gtc>Atc	p.V621I	PRMT5-AS1_ENST00000457443.2_RNA|PRMT5_ENST00000538452.1_Missense_Mutation_p.V515I|PRMT5-AS1_ENST00000609885.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000553897.1_Missense_Mutation_p.V577I|PRMT5-AS1_ENST00000424245.2_RNA|PRMT5_ENST00000397440.4_Missense_Mutation_p.V450I|PRMT5_ENST00000216350.8_Missense_Mutation_p.V560I|PRMT5_ENST00000397441.2_Missense_Mutation_p.V604I	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	621					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		GCAGAACAGACTGGTGCTGTC	0.542													T	23390166	C	T	23390166	3	4	466	1	0	0	0	0	1	0	0	0	12625	565	20	2	56	2	PRMT5	14	23390166	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		23390166	83959374	22	44167											
FUS	2521	broad.mit.edu	37	chr16	31200459	31200461	+	In_Frame_Del	DEL	ACA	ACA	-																															agcagaacaggataattcagAcaacaacaccatctttgtgc																										TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr16:31200459_31200461delACA	ENST00000254108.7	+	9	953_955	c.848_850delACA	c.(847-852)gacaac>gac	p.N285del	FUS_ENST00000380244.3_In_Frame_Del_p.N284del|FUS_ENST00000474990.1_3'UTR|FUS_ENST00000568685.1_In_Frame_Del_p.N286del	NM_001170634.1|NM_001170937.1|NM_004960.3	NP_001164105.1|NP_001164408.1|NP_004951.1	P35637	FUS_HUMAN	fused in sarcoma	285	RRM.				cell death|nuclear mRNA splicing, via spliceosome	nucleoplasm	DNA binding|nucleotide binding|protein binding|RNA binding|zinc ion binding		FUS/ERG(167)|FUS/DDIT3(631)|FUS/FEV(2)|FUS/ATF1(4)|FUS/CREB3L1(6)|FUS/CREB3L2(158)	breast(3)|endometrium(5)|kidney(3)|large_intestine(1)|lung(5)|prostate(3)|skin(1)|urinary_tract(1)	22		Renal(780;0.000219)|Breast(268;0.00957)|Hepatocellular(780;0.121)		GBM - Glioblastoma multiforme(240;2.31e-05)|Kidney(780;0.000209)		GATAATTCAGACAACAACACCAT	0.374			T	"DDIT3, ERG, FEV, ATF1, CREB3L2, CREB3L1"	"liposarcoma, AML, Ewing sarcoma, angiomatoid fibrous histiocytoma, fibromyxoid sarcoma"								-	31200461	ACA	-	31200459	7	5	466	1	0	1	0	1	0	0	0	0	6152	275	10	0	882	0	FUS	16	31200459	In_Frame_Del	DEL	ACA	TCGA-EZ-7264-01A-11D-2024-08		31200459	59154294	23	44168											
FAM64A	54478	broad.mit.edu	37	chr17	6348641	6348641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcagggccctcctggaaaCgcctggaaaccccagagcca	10	3	12	16	2	0	1	0	0	0	1	1	3	1	3	6	3	3	1	6	3	2	0	rs11538170		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:6348641C>T	ENST00000572447.1	+	2	320	c.211C>T	c.(211-213)Cgc>Tgc	p.R71C	FAM64A_ENST00000571373.1_Missense_Mutation_p.R71C|FAM64A_ENST00000572595.2_Missense_Mutation_p.R71C|FAM64A_ENST00000576056.1_Missense_Mutation_p.R71C|FAM64A_ENST00000570337.2_Missense_Mutation_p.R71C|FAM64A_ENST00000250056.8_Missense_Mutation_p.R71C	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	71						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CTCCTGGAAACGCCTGGAAAC	0.627													T	6348641	C	T	6348641	3	4	466	1	0	0	0	0	1	0	0	0	5648	536	19	1	213	1	FAM64A	17	6348641	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		6348641	74846569	24	44169											
MYO15A	51168	broad.mit.edu	37	chr17	18052562	18052562	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggactcggatgaggAcatgtccactagaccccagc	10	6	12	13	1	0	2	0	1	0	1	2	5	1	5	3	3	2	1	3	3	1	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:18052562A>G	ENST00000205890.5	+	34	7327	c.6989A>G	c.(6988-6990)gAc>gGc	p.D2330G		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2330	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TCGGATGAGGACATGTCCACT	0.527													G	18052562	A	G	18052562	3	3	466	1	0	0	0	0	1	0	0	0	10139	275	10	3	7115	3	MYO15A	17	18052562	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	11703921	18052562	63142648	25	44170											
SLFN12	55106	broad.mit.edu	37	chr17	33738552	33738552	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gattcagggtaaattacttgCgaccttaaatcatactggca	13	12	8	8	1	2	0	2	0	0	0	2	2	2	0	1	2	3	2	1	2	6	6	rs150878441		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:33738552C>T	ENST00000394562.1	-	6	2065	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S	SLFN12_ENST00000304905.5_Silent_p.S514S|SLFN12_ENST00000452764.3_Silent_p.S514S|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	514							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AAATTACTTGCGACCTTAAAT	0.393													T	33738552	C	T	33738552	2	4	466	1	0	0	0	0	0	0	0	1	14828	755	27	1		1	SLFN12	17	33738552	Silent	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	15685990	33738552	47456658	26	44171											
DNAH17	8632	broad.mit.edu	37	chr17	76456336	76456336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttttgcttctcagtgaCgttctggaaggaagatggac	8	12	13	8	1	2	2	1	1	2	1	3	5	2	5	1	4	1	2	1	4	2	4			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr17:76456336C>T	ENST00000389840.5	-	59	9425	c.9301G>A	c.(9301-9303)Gtc>Atc	p.V3101I	DNAH17_ENST00000586052.1_5'UTR|DNAH17_ENST00000585328.1_Missense_Mutation_p.V3110I					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			TTCTCAGTGACGTTCTGGAAG	0.562													T	76456336	C	T	76456336	3	4	466	1	0	0	0	0	1	0	0	0	4640	536	19	1	4137	1	DNAH17	17	76456336	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	42717784	76456336	4738874	27	44172											
LAMA1	284217	broad.mit.edu	37	chr18	6999522	6999522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaggcccccagcctgcaaaCgcactgcccagatgtgcggt	8	5	12	16	3	0	1	0	0	0	1	0	2	0	1	4	2	5	2	4	2	1	0	rs146559010		TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr18:6999522C>T	ENST00000389658.3	-	32	4678	c.4585G>A	c.(4585-4587)Gtt>Att	p.V1529I		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1529	Laminin EGF-like 17.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCTGCAAACGCACTGCCCA	0.557													T	6999522	C	T	6999522	3	4	466	1	0	0	0	0	1	0	0	0	8664	536	19	1	4770	1	LAMA1	18	6999522	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		6999522	71077726	28	44173											
QTRT1	81890	broad.mit.edu	37	chr19	10812925	10812925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccgtgcagatccagaatgCgctgggtgagaggaccctgg	9	7	15	10	2	0	3	0	1	0	3	2	5	2	4	3	3	2	2	3	3	1	0			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:10812925C>T	ENST00000250237.5	+	3	456	c.446C>T	c.(445-447)gCg>gTg	p.A149V	QTRT1_ENST00000585885.1_3'UTR	NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	149					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			ATCCAGAATGCGCTGGGTGAG	0.607													T	10812925	C	T	10812925	3	4	466	1	0	0	0	0	1	0	0	0	12973	768	27	1	456	1	QTRT1	19	10812925	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08		10812925	48316058	29	44174											
KLHL26	55295	broad.mit.edu	37	chr19	18779269	18779269	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtaggctgcagccacacGtgcgtggccgtgctggacaa	8	6	16	11	3	0	0	0	0	0	0	0	2	0	1	2	4	4	4	2	4	2	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:18779269G>A	ENST00000300976.4	+	3	1152	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	KLHL26_ENST00000599006.1_Intron	NM_018316.1	NP_060786.1	Q53HC5	KLH26_HUMAN	kelch-like family member 26	354										breast(1)|central_nervous_system(1)|kidney(1)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						GCAGCCACACGTGCGTGGCCG	0.677													A	18779269	G	A	18779269	2	1	466	1	0	0	0	0	0	0	0	1	8439	1132	40	1		1	KLHL26	19	18779269	Silent	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	7966344	18779269	40349714	30	44175											
ANKRD27	84079	broad.mit.edu	37	chr19	33096834	33096834	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcttattgggttttgcAttcgaatctaacagacactt	9	17	6	9	1	2	1	0	0	2	1	4	2	3	1	1	1	2	2	1	1	3	8			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:33096834A>G	ENST00000306065.4	-	24	2558	c.2400T>C	c.(2398-2400)aaT>aaC	p.N800N		NM_032139.2	NP_115515.2	Q96NW4	ANR27_HUMAN	ankyrin repeat domain 27 (VPS9 domain)	800					early endosome to late endosome transport	early endosome|lysosome	GTPase activator activity|guanyl-nucleotide exchange factor activity			breast(3)|endometrium(7)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	42	Esophageal squamous(110;0.137)					TGGGTTTTGCATTCGAATCTA	0.473													G	33096834	A	G	33096834	2	3	466	1	0	0	0	0	0	0	0	1	655	214	8	3		3	ANKRD27	19	33096834	Silent	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	14317565	33096834	26032149	31	44176											
CIC	23152	broad.mit.edu	37	chr19	42798878	42798878	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttcaggaccatggcttcTtcccgtcaggtgagcctgtc	5	13	10	13	1	4	1	2	1	2	0	6	2	5	2	3	3	1	1	3	3	0	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:42798878T>G	ENST00000572681.2	+	20	7236	c.7168T>G	c.(7168-7170)Ttc>Gtc	p.F2390V	CIC_ENST00000575354.2_Missense_Mutation_p.F1484V|CIC_ENST00000160740.3_Missense_Mutation_p.F1482V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1484					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCATGGCTTCTTCCCGTCAGG	0.597			"Mis, F, S"		oligodendroglioma								G	42798878	T	G	42798878	3	3	466	1	0	0	0	0	1	0	0	0	3454	1609	56	5	4524	5	CIC	19	42798878	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	9702044	42798878	16330105	32	44177											
ZNF347	84671	broad.mit.edu	37	chr19	53643617	53643617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactttagaactttccacaCgttacatttgtaaggtttcc	10	16	6	9	1	0	2	0	1	0	1	2	2	2	2	2	1	2	3	2	1	4	7			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr19:53643617C>T	ENST00000452676.2	-	5	2893	c.2467G>A	c.(2467-2469)Gtg>Atg	p.V823M	ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.V823M|ZNF347_ENST00000334197.7_Missense_Mutation_p.V822M	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	822					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		ACTTTCCACACGTTACATTTG	0.413													T	53643617	C	T	53643617	3	4	466	1	0	0	0	0	1	0	0	0	17962	536	19	1	59	1	ZNF347	19	53643617	Missense_Mutation	SNP	C	TCGA-EZ-7264-01A-11D-2024-08	10844739	53643617	5485366	33	44178											
PCSK2	5126	broad.mit.edu	37	chr20	17240949	17240949	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaaaggccaagagaagacGcagcctacaccacaagcagc	16	2	10	13	1	0	2	0	0	0	2	0	3	0	2	3	1	5	3	3	1	5	1			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr20:17240949G>A	ENST00000262545.2	+	2	557	c.242G>A	c.(241-243)cGc>cAc	p.R81H	PCSK2_ENST00000536609.1_Intron|PCSK2_ENST00000377899.1_Missense_Mutation_p.R62H	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	81					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AAGAGAAGACGCAGCCTACAC	0.532													A	17240949	G	A	17240949	3	1	466	1	0	0	0	0	1	0	0	0	11677	1087	38	1	248	1	PCSK2	20	17240949	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		17240949	45784571	34	44179											
BAGE2	85319	broad.mit.edu	37	chr21	11058309	11058309	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atagtggctccaaagtgcttAcaaaatgcacatcgctgaaa	15	9	8	9	1	0	1	0	1	0	0	2	1	1	1	1	1	3	4	1	1	6	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chr21:11058309A>G	ENST00000470054.1	-	0	338									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CAAAGTGCTTACAAAATGCAC	0.393													G	11058309	A	G	11058309	1	3	466	0	1	0	0	0	0	0	0	0	1297	391	14	3		3	BAGE2	21	11058309	RNA	SNP	A	TCGA-EZ-7264-01A-11D-2024-08		11058309	37071586	35	44180											
HUWE1	10075	broad.mit.edu	37	chrX	53618082	53618082	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgaagcccatgtccatgaGctacataaagaatgcaaggg	14	8	11	8	0	0	3	0	2	0	1	1	3	1	3	2	1	4	2	2	1	6	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:53618082G>C	ENST00000342160.3	-	33	4430	c.3973C>G	c.(3973-3975)Ctc>Gtc	p.L1325V	HUWE1_ENST00000218328.8_Splice_Site_p.L1325V|HUWE1_ENST00000262854.6_Splice_Site_p.L1325V			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1325	UBA.				base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						ATGTCCATGAGCTACATAAAG	0.433													C	53618082	G	C	53618082	5	2	466	1	0	0	0	0	0	0	1	0	7519	985	34	4	9355	4	HUWE1	23	53618082	Splice_Site	SNP	G	TCGA-EZ-7264-01A-11D-2024-08		53618082	101652478	36	44181											
ACRC	93953	broad.mit.edu	37	chrX	70824013	70824013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgatgattcggaagcttccGacgacagcagtgatgattcg	10	10	13	8	4	0	4	0	4	0	0	3	7	1	5	1	1	2	2	1	1	1	3			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:70824013G>A	ENST00000373695.1	+	7	1423	c.886G>A	c.(886-888)Gac>Aac	p.D296N	ACRC_ENST00000373696.3_Missense_Mutation_p.D296N			Q96QF7	ACRC_HUMAN	acidic repeat containing	296	Asp/Ser-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					GGAAGCTTCCGACGACAGCAG	0.527													A	70824013	G	A	70824013	3	1	466	1	0	0	0	0	1	0	0	0	171	1058	37	1	912	1	ACRC	23	70824013	Missense_Mutation	SNP	G	TCGA-EZ-7264-01A-11D-2024-08	17205931	70824013	84446547	37	44182											
UPRT	139596	broad.mit.edu	37	chrX	74519578	74519578	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttcttcaaggtgaggcaAtggaacaaggtttacgagac	12	11	11	7	1	3	2	1	1	2	1	3	4	3	3	0	4	2	2	0	4	5	5			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:74519578A>G	ENST00000373379.1	+	5	736	c.571A>G	c.(571-573)Atg>Gtg	p.M191V	UPRT_ENST00000530743.1_Missense_Mutation_p.M55V|UPRT_ENST00000373383.4_Missense_Mutation_p.M191V			Q96BW1	UPP_HUMAN	uracil phosphoribosyltransferase (FUR1) homolog (S. cerevisiae)	191					nucleoside metabolic process	cytoplasm|nucleus				breast(1)|endometrium(7)|kidney(2)|large_intestine(4)|lung(4)	18						AGGTGAGGCAATGGAACAAGG	0.383													G	74519578	A	G	74519578	3	3	466	1	0	0	0	0	1	0	0	0	17116	101	4	3	589	3	UPRT	23	74519578	Missense_Mutation	SNP	A	TCGA-EZ-7264-01A-11D-2024-08	3695565	74519578	80750982	38	44183											
AMOT	154796	broad.mit.edu	37	chrX	112058788	112058788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgctgctgtggctgcTgctgctgctgttgttggtgg	0	15	17	9	0	0	0	0	0	0	0	0	0	0	0	0	4	6	10	0	4	0	2			TCGA-EZ-7264-01A-11D-2024-08	TCGA-EZ-7264-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00493087-9d9d-40ca-86d5-936f1b951c93	d5dfac45-4aff-481d-9117-807ed47b7b10	g.chrX:112058788T>C	ENST00000371959.3	-	2	1189	c.1190A>G	c.(1189-1191)cAg>cGg	p.Q397R	AMOT_ENST00000524145.1_Missense_Mutation_p.Q397R|AMOT_ENST00000371958.1_Missense_Mutation_p.Q165R|AMOT_ENST00000371962.1_Missense_Mutation_p.Q165R|AMOT_ENST00000304758.1_5'UTR	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	397					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ctgtggctgctgctgctgctg	0.572													C	112058788	T	C	112058788	3	2	466	1	0	0	0	0	1	0	0	0	582	1580	55	3	2104	3	AMOT	23	112058788	Missense_Mutation	SNP	T	TCGA-EZ-7264-01A-11D-2024-08	37539210	112058788	43211772	39	44184											
SNX27	81609	broad.mit.edu	37	chr1	151641080	151641080	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaattctcttaaatgacaAtgaccttgctgttacctact	13	14	5	9	0	1	3	0	2	1	1	2	3	1	3	2	0	3	2	2	0	6	5	rs149636067		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:151641080A>G	ENST00000368843.3	+	7	1238	c.1118A>G	c.(1117-1119)aAt>aGt	p.N373S	SNX27_ENST00000368838.1_Missense_Mutation_p.N280S|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.N373S	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	373					cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding	p.N373S(1)		central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			TTAAATGACAATGACCTTGCT	0.363													G	151641080	A	G	151641080	3	3	467	1	0	0	0	0	1	0	0	0	14991	101	4	3	1144	3	SNX27	1	151641080	Missense_Mutation	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		151641080	97609541	1	44185											
FLG	2312	broad.mit.edu	37	chr1	152286320	152286320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggagctgtctgcagagtGcccatgactggctctgtctt	5	13	12	11	0	4	2	0	1	4	1	4	3	4	3	1	2	3	3	1	2	0	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:152286320G>A	ENST00000368799.1	-	3	1077	c.1042C>T	c.(1042-1044)Cac>Tac	p.H348Y	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	348	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCTGCAGAGTGCCCATGACTG	0.557									Ichthyosis				A	152286320	G	A	152286320	3	1	467	1	0	0	0	0	1	0	0	0	5971	1319	46	2	11147	2	FLG	1	152286320	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	645240	152286320	96964301	2	44186											
B4GALT3	8703	broad.mit.edu	37	chr1	161143660	161143660	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctctacctgtatccaaaCttgttcatagcaacggcaac	11	10	6	14	1	2	0	1	0	1	0	3	0	3	0	3	1	5	4	3	1	6	5			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr1:161143660C>T	ENST00000319769.5	-	5	891	c.669G>A	c.(667-669)aaG>aaA	p.K223K	B4GALT3_ENST00000367998.1_Silent_p.K223K|B4GALT3_ENST00000470882.1_5'UTR|PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_Intron|PPOX_ENST00000432542.2_Intron	NM_001199873.1|NM_003779.3	NP_001186802.1|NP_003770.1	O60512	B4GT3_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 3	223				K -> S (in Ref. 2; AAC39734).	post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|metal ion binding|N-acetyllactosamine synthase activity			cervix(1)|endometrium(5)|large_intestine(6)|lung(6)	18	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)		N-Acetyl-D-glucosamine(DB00141)	TGTATCCAAACTTGTTCATAG	0.537													T	161143660	C	T	161143660	2	4	467	1	0	0	0	0	0	0	0	1	1277	564	20	2		2	B4GALT3	1	161143660	Silent	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	8857340	161143660	88106961	3	44187											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	467	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		209113112	34086261	4	44188											
SLITRK3	22865	broad.mit.edu	37	chr3	164906505	164906505	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctcaaacagcctgtggCattgcatttggatgccagta	10	11	9	11	0	1	0	1	0	0	0	2	1	2	1	3	2	4	3	3	2	2	3			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr3:164906505C>T	ENST00000475390.1	-	2	2557	c.2114G>A	c.(2113-2115)tGc>tAc	p.C705Y	SLITRK3_ENST00000241274.3_Missense_Mutation_p.C705Y			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	705						integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						CAGCCTGTGGCATTGCATTTG	0.592										HNSCC(40;0.11)			T	164906505	C	T	164906505	3	4	467	1	0	0	0	0	1	0	0	0	14838	710	25	2	823	2	SLITRK3	3	164906505	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		164906505	33115925	5	44189											
FRG1	2483	broad.mit.edu	37	chr4	190864382	190864382	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaagagcaaagataagAaaagaaaaagagaagaagat	28	2	10	1	0	0	8	0	0	0	8	0	9	0	8	0	0	1	1	0	0	10	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr4:190864382A>T	ENST00000226798.4	+	2	310	c.88A>T	c.(88-90)Aaa>Taa	p.K30*	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	30	Lys-rich.				rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		caaagataagaaaagaaaaag	0.303													T	190864382	A	T	190864382	4	4	467	1	0	0	0	0	0	1	0	0	6098	247	9	5	94	5	FRG1	4	190864382	Nonsense_Mutation	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		190864382	289894	6	44190											
NIPBL	25836	broad.mit.edu	37	chr5	37046252	37046258	+	Frame_Shift_Del	DEL	TACAAAA	TACAAAA	-																															cttgaactattgatgtatttTacaaaacactcagatgaaga																								rs138404850		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:37046252_37046258delTACAAAA	ENST00000282516.8	+	38	7039_7045	c.6540_6546delTACAAAA	c.(6538-6546)tttacaaaafs	p.FTK2180fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.FTK2180fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2180					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGATGTATTTTACAAAACACTCAGATG	0.29													-	37046258	TACAAAA	-	37046252	7	5	467	1	0	1	0	1	0	0	0	0	10504	1751	61	0	6686	0	NIPBL	5	37046252	Frame_Shift_Del	DEL	TACAAAA	TCGA-F6-A8O3-01A-11D-A36O-08		37046252	143869008	7	44191											
DAB2	1601	broad.mit.edu	37	chr5	39394362	39394362	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccttctttgagggtgcttTtggtgcggcctgttggtcgg	1	17	15	8	2	1	1	0	1	1	0	3	1	2	1	2	5	2	2	2	5	0	6			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:39394362T>C	ENST00000545653.1	-	2	591	c.61A>G	c.(61-63)Aaa>Gaa	p.K21E	DAB2_ENST00000339788.6_Missense_Mutation_p.K21E|DAB2_ENST00000509337.1_Missense_Mutation_p.K21E|DAB2_ENST00000320816.6_Missense_Mutation_p.K21E	NM_001244871.1	NP_001231800.1	P98082	DAB2_HUMAN	Dab, mitogen-responsive phosphoprotein, homolog 2 (Drosophila)	21					cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of protein binding|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent|positive regulation of Wnt receptor signaling pathway, planar cell polarity pathway	clathrin coated vesicle membrane|coated pit	protein C-terminus binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(9)|lung(19)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	47	all_lung(31;0.000197)		Epithelial(62;0.137)			GAGGGTGCTTTTGGTGCGGCC	0.488													C	39394362	T	C	39394362	3	2	467	1	0	0	0	0	1	0	0	0	4252	1850	64	3	2303	3	DAB2	5	39394362	Missense_Mutation	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08	2348110	39394362	141520898	8	44192											
FOXI1	2299	broad.mit.edu	37	chr5	169533529	169533529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgccccgcgacgaggacGacccgggtaaggaggctttg	8	5	17	11	5	0	0	0	0	0	0	0	5	0	2	3	5	1	2	3	5	1	2			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr5:169533529G>A	ENST00000449804.2	+	1	613	c.568G>A	c.(568-570)Gac>Aac	p.D190N	FOXI1_ENST00000306268.6_Missense_Mutation_p.D190N	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	190					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGACGAGGACGACCCGGGTAA	0.582									Pendred syndrome				A	169533529	G	A	169533529	3	1	467	1	0	0	0	0	1	0	0	0	6060	1058	37	1	570	1	FOXI1	5	169533529	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	130139167	169533529	11381731	9	44193											
MOG	4340	broad.mit.edu	37	chr6	29638125	29638125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgccggttcttggaccCttggttgccttgatcatctg	4	16	11	10	1	3	1	1	1	2	0	3	2	3	2	3	3	2	2	3	3	0	6			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr6:29638125C>T	ENST00000376894.4	+	6	778	c.660C>T	c.(658-660)ccC>ccT	p.P220P	MOG_ENST00000376902.3_3'UTR|MOG_ENST00000494692.1_Intron|MOG_ENST00000490427.1_Intron|MOG_ENST00000416766.2_Silent_p.P182P|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_3'UTR|MOG_ENST00000376888.2_Silent_p.P104P|MOG_ENST00000376891.4_Intron|MOG_ENST00000396701.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000376917.3_Silent_p.P220P|MOG_ENST00000376898.3_Silent_p.P220P			Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein	220					cell adhesion|central nervous system development|positive regulation of MyD88-dependent toll-like receptor signaling pathway	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						TTCTTGGACCCTTGGTTGCCT	0.512													T	29638125	C	T	29638125	2	4	467	1	0	0	0	0	0	0	0	1	9769	668	24	2		2	MOG	6	29638125	Silent	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		29638125	141476942	10	44194											
POT1	25913	broad.mit.edu	37	chr7	124503468	124503468	+	Missense_Mutation	SNP	T	T	A																															gctgacaagtcaggtcaaaaTactgcattggctgaacatca																										TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503468T>A	ENST00000357628.3	-	8	1080	c.482A>T	c.(481-483)tAt>tTt	p.Y161F	POT1_ENST00000393329.1_Missense_Mutation_p.Y30F	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	161					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CAGGTCAAAATACTGCATTGG	0.403													A	124503468	T	A	124503468	3	1	467	1	0	0	0	0	1	0	0	0	12337	1406	49	5	1470	5	POT1	7	124503468	Missense_Mutation	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08		124503468	34635195	11	44195	146	2									
POT1	25913	broad.mit.edu	37	chr7	124503470	124503470	+	Missense_Mutation	SNP	C	C	A																															tgacaagtcaggtcaaaataCtgcattggctgaacatcaca																										TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr7:124503470C>A	ENST00000357628.3	-	8	1078	c.480G>T	c.(478-480)caG>caT	p.Q160H	POT1_ENST00000393329.1_Missense_Mutation_p.Q29H	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	160					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						GGTCAAAATACTGCATTGGCT	0.398													A	124503470	C	A	124503470	3	1	467	1	0	0	0	0	1	0	0	0	12337	564	20	4	1472	4	POT1	7	124503470	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	2	124503470	34635193	12	44196	146	2									
FGFR1	2260	broad.mit.edu	37	chr8	38274849	38274849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgcgtgcaggcccccagcagGttgatgatattcttatgctt	7	13	11	10	1	1	2	0	2	1	0	1	2	1	2	2	2	4	4	2	2	2	5			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr8:38274849G>T	ENST00000341462.5	-	12	2579	c.1638C>A	c.(1636-1638)aaC>aaA	p.N546K	FGFR1_ENST00000356207.5_Missense_Mutation_p.N457K|FGFR1_ENST00000335922.5_Missense_Mutation_p.N536K|FGFR1_ENST00000397113.2_Missense_Mutation_p.N544K|FGFR1_ENST00000447712.2_Missense_Mutation_p.N546K|FGFR1_ENST00000425967.3_Missense_Mutation_p.N577K|FGFR1_ENST00000397091.5_Missense_Mutation_p.N544K|FGFR1_ENST00000397103.1_Missense_Mutation_p.N457K|FGFR1_ENST00000532791.1_Missense_Mutation_p.N544K|FGFR1_ENST00000397108.4_Missense_Mutation_p.N544K|FGFR1_ENST00000326324.6_Missense_Mutation_p.N455K			P11362	FGFR1_HUMAN	fibroblast growth factor receptor 1	546	Protein kinase.				axon guidance|cell growth|insulin receptor signaling pathway|MAPKKK cascade|positive regulation of cell proliferation|skeletal system development	extracellular region|integral to plasma membrane|membrane fraction	ATP binding|fibroblast growth factor receptor activity|heparin binding|protein homodimerization activity	p.N546K(4)	FGFR1/ZNF703(2)	breast(2)|central_nervous_system(7)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|stomach(2)|urinary_tract(2)	50	all_cancers(2;9.05e-47)|all_epithelial(2;2.64e-50)|all_lung(3;1.71e-23)|Lung NSC(2;3.61e-23)|Colorectal(12;0.000442)	Breast(189;1.48e-05)|all_lung(54;0.00354)|Lung NSC(58;0.0138)|Hepatocellular(245;0.065)	Epithelial(3;3.96e-34)|all cancers(3;3.06e-30)|BRCA - Breast invasive adenocarcinoma(5;2.28e-21)|COAD - Colon adenocarcinoma(9;0.24)		Palifermin(DB00039)	CCCCCAGCAGGTTGATGATAT	0.542		1	T	"BCR, FOP, ZNF198, CEP1"	"MPD, NHL"		"Pfeiffer syndrome, Kallman syndrome"						T	38274849	G	T	38274849	3	4	467	1	0	0	0	0	1	0	0	0	5912	1252	44	4	858	4	FGFR1	8	38274849	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08		38274849	108089173	13	44197											
DOCK8	81704	broad.mit.edu	37	chr9	368051	368051	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctacccacagaggctgaaCtttgtaaacaaactagcatc	14	9	7	11	0	1	2	0	1	1	1	2	2	1	2	1	1	5	3	1	1	6	4			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:368051C>A	ENST00000432829.2	+	15	1825	c.1509C>A	c.(1507-1509)aaC>aaA	p.N503K	DOCK8_ENST00000382329.1_5'UTR|DOCK8_ENST00000382331.1_5'UTR|DOCK8_ENST00000469391.1_Missense_Mutation_p.N503K|DOCK8_ENST00000453981.1_Missense_Mutation_p.N571K	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	571	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		AGAGGCTGAACTTTGTAAACA	0.393													A	368051	C	A	368051	3	1	467	1	0	0	0	0	1	0	0	0	4732	564	20	4	1771	4	DOCK8	9	368051	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		368051	140845380	14	44198											
TMEM2	23670	broad.mit.edu	37	chr9	74332990	74332990	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtttgcatcctgatgaggtCgaaatctaggggttaaaaaa	13	11	12	5	1	1	2	0	2	1	0	3	3	2	2	1	4	1	3	1	4	5	3	rs140238648		TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr9:74332990C>T	ENST00000377044.4	-	13	2812	c.2273G>A	c.(2272-2274)cGa>cAa	p.R758Q	TMEM2_ENST00000377066.5_Missense_Mutation_p.R695Q	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	758						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTGATGAGGTCGAAATCTAGG	0.338													T	74332990	C	T	74332990	3	4	467	1	0	0	0	0	1	0	0	0	16221	884	31	1	1926	1	TMEM2	9	74332990	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	73964939	74332990	66880441	15	44199											
KIAA1217	56243	broad.mit.edu	37	chr10	24669989	24669989	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaccagacgaaagaaagAtctctgggtaagctttagaa	17	7	9	8	1	1	4	0	0	1	4	2	5	1	4	2	1	2	2	2	1	6	3			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:24669989A>G	ENST00000376454.3	+	3	576	c.546A>G	c.(544-546)agA>agG	p.R182R	KIAA1217_ENST00000458595.1_Silent_p.R182R|KIAA1217_ENST00000430453.2_Silent_p.R103R|KIAA1217_ENST00000376452.3_Silent_p.R182R|KIAA1217_ENST00000376462.1_Silent_p.R102R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	182					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CGAAAGAAAGATCTCTGGGTA	0.468													G	24669989	A	G	24669989	2	3	467	1	0	0	0	0	0	0	0	1	8274	330	12	3		3	KIAA1217	10	24669989	Silent	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		24669989	110864758	16	44200											
CYP2C18	1562	broad.mit.edu	37	chr10	96480296	96480296	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtacccagaggtcacaggTatgatgataccataggtgag	14	8	12	7	0	1	4	1	3	0	1	1	4	1	4	2	3	2	2	2	3	5	4			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr10:96480296T>C	ENST00000285979.6	+	6	1160		c.e6+2		CYP2C19_ENST00000464755.1_Splice_Site|CYP2C18_ENST00000339022.5_Splice_Site	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		AGGTCACAGGTATGATGATAC	0.448													C	96480296	T	C	96480296	5	2	467	1	0	0	0	0	0	0	1	0	4198	1652	57	3	985	3	CYP2C18	10	96480296	Splice_Site	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08	71810307	96480296	39054451	17	44201											
TSKU	25987	broad.mit.edu	37	chr11	76507258	76507258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaaccggctccatgccgtgCccaacctccgagacttgccc	7	6	10	18	3	0	1	0	0	0	1	2	3	2	2	7	2	5	1	7	2	2	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:76507258C>G	ENST00000527881.1	+	2	1624	c.598C>G	c.(598-600)Ccc>Gcc	p.P200A	TSKU_ENST00000333090.4_Missense_Mutation_p.P200A			Q8WUA8	TSK_HUMAN	tsukushi, small leucine rich proteoglycan	200						extracellular region				NS(1)|large_intestine(4)|lung(6)|urinary_tract(1)	12	Ovarian(111;0.112)					CCATGCCGTGCCCAACCTCCG	0.667													G	76507258	C	G	76507258	3	3	467	1	0	0	0	0	1	0	0	0	16728	739	26	4	600	4	TSKU	11	76507258	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		76507258	58499258	18	44202											
PDGFD	80310	broad.mit.edu	37	chr11	103866968	103866968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcttcaacttccacaaaaTcatacctagaatcaattgga	16	12	3	10	0	4	1	3	0	1	1	5	2	5	2	2	1	2	0	2	1	8	6			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:103866968T>C	ENST00000302251.5	-	3	768	c.317A>G	c.(316-318)gAt>gGt	p.D106G	PDGFD_ENST00000393158.2_Missense_Mutation_p.D112G	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	112	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		TTCCACAAAATCATACCTAGA	0.328													C	103866968	T	C	103866968	3	2	467	1	0	0	0	0	1	0	0	0	11736	1435	50	3	797	3	PDGFD	11	103866968	Missense_Mutation	SNP	T	TCGA-F6-A8O3-01A-11D-A36O-08	27359710	103866968	31139548	19	44203											
ATM	472	broad.mit.edu	37	chr11	108124759	108124759	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcttctgaataattactCatctgaggtgagatttttta	12	16	7	6	0	3	3	1	3	2	1	3	4	3	3	0	1	2	1	0	1	4	6			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr11:108124759C>A	ENST00000278616.4	+	13	2502	c.2117C>A	c.(2116-2118)tCa>tAa	p.S706*	ATM_ENST00000452508.2_Nonsense_Mutation_p.S706*	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	706			YSS -> FIP (in AT; might be associated with susceptibility to cancer).		cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AATAATTACTCATCTGAGGTG	0.393			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			A	108124759	C	A	108124759	4	1	467	1	0	0	0	0	0	1	0	0	1114	838	29	4	2163	4	ATM	11	108124759	Nonsense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	4257791	108124759	26881757	20	44204											
SLC2A14	144195	broad.mit.edu	37	chr12	7967043	7967043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctcaaaagtcctgccacGggtctcagggactttgaaga	11	9	10	11	1	2	2	2	1	1	1	5	3	4	3	3	2	1	0	3	2	3	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:7967043G>A	ENST00000543909.1	-	16	2191	c.1432C>T	c.(1432-1434)Cgt>Tgt	p.R478C	SLC2A14_ENST00000535295.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000340749.5_Missense_Mutation_p.R455C|SLC2A14_ENST00000539924.1_Missense_Mutation_p.R493C|SLC2A14_ENST00000542546.1_Missense_Mutation_p.R369C|SLC2A14_ENST00000431042.2_Missense_Mutation_p.R455C|SLC2A14_ENST00000396589.2_Missense_Mutation_p.R478C|SLC2A14_ENST00000542505.1_Missense_Mutation_p.R119C			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	478					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)		GTCCTGCCACGGGTCTCAGGG	0.498													A	7967043	G	A	7967043	3	1	467	1	0	0	0	0	1	0	0	0	14637	1116	39	1	134	1	SLC2A14	12	7967043	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08		7967043	125884852	21	44205											
SLC2A3	6515	broad.mit.edu	37	chr12	8074140	8074140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcctcaaaagtcctgccacGggtctcagggactttgaaga	11	9	10	11	1	2	2	2	1	1	1	5	3	4	3	3	2	1	0	3	2	3	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:8074140G>A	ENST00000075120.7	-	10	1600	c.1360C>T	c.(1360-1362)Cgt>Tgt	p.R454C		NM_006931.2	NP_008862.1	P11169	GTR3_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 3	454					carbohydrate metabolic process|water-soluble vitamin metabolic process	integral to membrane|plasma membrane	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(14)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				Kidney(36;0.0866)		GTCCTGCCACGGGTCTCAGGG	0.488													A	8074140	G	A	8074140	3	1	467	1	0	0	0	0	1	0	0	0	14639	1116	39	1	134	1	SLC2A3	12	8074140	Missense_Mutation	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	107097	8074140	125777755	22	44206											
KRT85	3891	broad.mit.edu	37	chr12	52760836	52760836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttctcctcctgcttcacGcactgtgcgttggggtcgat	3	14	10	14	3	2	0	1	0	1	0	6	1	4	0	3	2	2	3	3	2	0	3			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr12:52760836G>A	ENST00000257901.3	-	1	429	c.354C>T	c.(352-354)tgC>tgT	p.C118C		NM_002283.3	NP_002274.1	P78386	KRT85_HUMAN	keratin 85	118	Head.				epidermis development	keratin filament	protein binding|structural molecule activity			NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(7)|liver(1)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	36	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCTTCACGCACTGTGCGT	0.632													A	52760836	G	A	52760836	2	1	467	1	0	0	0	0	0	0	0	1	8557	1079	38	1		1	KRT85	12	52760836	Silent	SNP	G	TCGA-F6-A8O3-01A-11D-A36O-08	44686696	52760836	81091059	23	44207											
CPEB1	64506	broad.mit.edu	37	chr15	83218295	83218295	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggctgccagggcctcAgcatttagcattccatgcag	10	9	11	11	0	1	1	1	0	0	1	2	1	2	1	3	2	4	4	3	2	2	3			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr15:83218295A>G	ENST00000562833.1	-	5	517	c.518T>C	c.(517-519)cTg>cCg	p.L173P	RP11-379H8.1_ENST00000568285.1_Intron|CPEB1_ENST00000568757.1_Silent_p.A363A|CPEB1_ENST00000564522.1_Silent_p.A363A|CPEB1_ENST00000562019.1_Silent_p.A443A|CPEB1_ENST00000398591.2_Silent_p.A368A|CPEB1_ENST00000563800.1_Silent_p.A465A|CPEB1_ENST00000423133.2_Silent_p.A363A|CPEB1_ENST00000261723.6_Silent_p.A441A|CPEB1_ENST00000398592.2_Silent_p.A212A|CPEB1_ENST00000568128.1_Silent_p.A438A|CPEB1_ENST00000450751.2_Silent_p.A363A																							CCAGGGCCTCAGCATTTAGCA	0.527													G	83218295	A	G	83218295	3	3	467	1	0	0	0	0	1	0	0	0	3831	175	7	3	387	3	CPEB1	15	83218295	Missense_Mutation	SNP	A	TCGA-F6-A8O3-01A-11D-A36O-08		83218295	19313097	24	44208											
CNGB1	1258	broad.mit.edu	37	chr16	57998056	57998056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcatttcagaaatctcagCgccctgggcccggagggata	10	9	11	11	2	3	1	3	0	1	1	4	3	3	3	2	3	1	0	2	3	2	3			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr16:57998056C>T	ENST00000564448.1	-	4	328	c.268G>A	c.(268-270)Gct>Act	p.A90T	CNGB1_ENST00000311183.4_Missense_Mutation_p.A90T|CNGB1_ENST00000251102.8_Missense_Mutation_p.A90T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	90					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						GAAATCTCAGCGCCCTGGGCC	0.587													T	57998056	C	T	57998056	3	4	467	1	0	0	0	0	1	0	0	0	3631	768	27	1	3637	1	CNGB1	16	57998056	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		57998056	32356697	25	44209											
KRT33B	3884	broad.mit.edu	37	chr17	39521493	39521493	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctcagctcgatgatctcCgcctggtaggactgcagctg	6	10	12	13	3	2	1	1	1	2	0	5	3	2	2	2	2	3	4	2	2	1	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr17:39521493C>T	ENST00000251646.3	-	5	859	c.810G>A	c.(808-810)gcG>gcA	p.A270A		NM_002279.4	NP_002270.1	Q14525	KT33B_HUMAN	keratin 33B	270	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(6)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000496)				CGATGATCTCCGCCTGGTAGG	0.587													T	39521493	C	T	39521493	2	4	467	1	0	0	0	0	0	0	0	1	8528	639	23	1		1	KRT33B	17	39521493	Silent	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		39521493	41673717	26	44210											
HMHA1	23526	broad.mit.edu	37	chr19	1080421	1080421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcggacgctggctccctgCgacccaccctggcccttcac	4	6	12	19	3	1	0	1	0	0	0	2	2	2	1	4	4	1	2	4	4	0	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:1080421C>T	ENST00000536472.1	+	13	1629	c.1391C>T	c.(1390-1392)gCg>gTg	p.A464V	HMHA1_ENST00000586866.1_Intron|HMHA1_ENST00000590577.1_Intron|HMHA1_ENST00000539243.2_Intron|HMHA1_ENST00000543365.1_Intron|HMHA1_ENST00000313093.2_Intron|HMHA1_ENST00000590214.1_Intron			Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	609					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGGCTCCCTGCGACCCACCCT	0.677													T	1080421	C	T	1080421	3	4	467	1	0	0	0	0	1	0	0	0	7295	783	27	1		1	HMHA1	19	1080421	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		1080421	58048562	27	44211											
SMARCA4	6597	broad.mit.edu	37	chr19	11129635	11129635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttccttgttccatcagaaCgctgtccaactgggcgtacg	8	12	9	12	3	1	1	1	0	0	1	4	1	4	1	3	1	3	3	3	1	3	4			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:11129635C>A	ENST00000358026.2	+	17	2725	c.2441C>A	c.(2440-2442)aCg>aAg	p.T814K	SMARCA4_ENST00000413806.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T814K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T814K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T814K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T814K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T814K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	814	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)|p.T814K(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TCCATCAGAACGCTGTCCAAC	0.547			"F, N, Mis"		NSCLC								A	11129635	C	A	11129635	3	1	467	1	0	0	0	0	1	0	0	0	14864	536	19	4	2503	4	SMARCA4	19	11129635	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	10049214	11129635	47999348	28	44212											
CPAMD8	27151	broad.mit.edu	37	chr19	17085906	17085906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgagaccacctctccttaCggtgaaggcaaacccagagt	11	8	9	13	1	2	3	0	2	2	2	3	4	2	3	4	2	2	1	4	2	3	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr19:17085906C>T	ENST00000388925.4	-	13	1601	c.1429G>A	c.(1429-1431)Gta>Ata	p.V477I	CPAMD8_ENST00000443236.1_Splice_Site			Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	0						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCTCTCCTTACGGTGAAGGCA	0.547													T	17085906	C	T	17085906	3	4	467	1	0	0	0	0	1	0	0	0	3826	550	19	1	3690	1	CPAMD8	19	17085906	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08	5956271	17085906	42043077	29	44213											
RIPK4	54101	broad.mit.edu	37	chr21	43166847	43166847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaggtggctgcaggcgCgcggccgggctctgcacacg	5	6	17	13	5	2	0	1	0	1	0	2	0	2	0	1	5	2	5	1	5	1	1			TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr21:43166847C>T	ENST00000352483.2	-	5	822	c.758G>A	c.(757-759)cGc>cAc	p.R253H	RIPK4_ENST00000332512.3_Missense_Mutation_p.R253H|RIPK4_ENST00000542057.1_Missense_Mutation_p.R190H|RIPK4_ENST00000544709.1_Missense_Mutation_p.R190H			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	253						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GCTGCAGGCGCGCGGCCGGGC	0.667													T	43166847	C	T	43166847	3	4	467	1	0	0	0	0	1	0	0	0	13474	768	27	1	1612	1	RIPK4	21	43166847	Missense_Mutation	SNP	C	TCGA-F6-A8O3-01A-11D-A36O-08		43166847	4963048	30	44214											
DDX17	10521	broad.mit.edu	37	chr22	38901984	38901984	+	Frame_Shift_Del	DEL	C	C	-																															gtcacgatcccggtcccggtCcccaaagcctcctccgcgca																										TCGA-F6-A8O3-01A-11D-A36O-08	TCGA-F6-A8O3-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9127a4d-9030-4ff4-b605-9cb68fdcc1ea	e475d10e-c3d2-43dc-908b-d35a537c9f10	g.chr22:38901984delC	ENST00000396821.3	-	1	358	c.259delG	c.(259-261)gacfs	p.D87fs	DDX17_ENST00000381633.3_Frame_Shift_Del_p.D8fs|DDX17_ENST00000432525.1_Intron	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	8					RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					CGGTCCCGGTCCCCAAAGCCT	0.701													-	38901984	C	-	38901984	7	5	467	1	0	1	0	1	0	0	0	0	4378	855	30	0	1988	0	DDX17	22	38901984	Frame_Shift_Del	DEL	C	TCGA-F6-A8O3-01A-11D-A36O-08		38901984	12402582	31	44215											
PRAMEF11	440560	broad.mit.edu	37	chr1	12887677	12887677	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtaaatccagcacttgAagtttccatctcctgtggga	9	13	8	11	0	1	1	0	1	1	0	5	2	4	2	4	1	1	3	4	1	3	3			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:12887677A>G	ENST00000535591.1	-	3	375	c.180T>C	c.(178-180)ctT>ctC	p.L60L		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	60										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						CCAGCACTTGAAGTTTCCATC	0.463													G	12887677	A	G	12887677	2	3	468	1	0	0	0	0	0	0	0	1	12509	233	9	3		3	PRAMEF11	1	12887677	Silent	SNP	A	TCGA-F6-A8O4-01A-11D-A36O-08		12887677	236362944	1	44216											
DIRAS3	9077	broad.mit.edu	37	chr1	68512673	68512673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccgggctataacgtggCgctgcagagcgcggttgccg	5	6	17	13	6	0	1	0	0	0	1	0	1	0	1	3	4	4	4	3	4	2	3			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:68512673C>T	ENST00000370981.1	-	4	944	c.308G>A	c.(307-309)cGc>cAc	p.R103H	GNG12-AS1_ENST00000413628.1_RNA|DIRAS3_ENST00000395201.1_Missense_Mutation_p.R103H|GNG12-AS1_ENST00000420587.1_RNA			O95661	DIRA3_HUMAN	DIRAS family, GTP-binding RAS-like 3	103					regulation of cyclin-dependent protein kinase activity|regulation of gene expression by genetic imprinting|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity	p.R103L(2)		NS(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TATAACGTGGCGCTGCAGAGC	0.577													T	68512673	C	T	68512673	3	4	468	1	0	0	0	0	1	0	0	0	4571	768	27	1	385	1	DIRAS3	1	68512673	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	55624996	68512673	180737948	2	44217											
C1orf85	112770	broad.mit.edu	37	chr1	156262835	156262835	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccctccagagagcgggccTtaatttatggactggtactc	8	12	10	11	1	0	1	0	0	0	1	3	3	2	2	3	3	2	1	3	3	3	5			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:156262835T>C	ENST00000362007.1	-	6	1247	c.1221A>G	c.(1219-1221)taA>taG	p.*407*	C1orf85_ENST00000482579.1_5'UTR	NM_001256604.1|NM_001256609.1|NM_144580.2	NP_001243533.1|NP_001243538.1|NP_653181.1	Q8WWB7	NCUG1_HUMAN	chromosome 1 open reading frame 85	0					positive regulation of transcription from RNA polymerase II promoter	cytosol|integral to membrane|lysosomal membrane|nucleus	ligand-dependent nuclear receptor activity|protein binding transcription factor activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(2)|skin(3)	14	Hepatocellular(266;0.158)					AGAGCGGGCCTTAATTTATGG	0.582													C	156262835	T	C	156262835	2	2	468	1	0	0	0	0	0	0	0	1	2083	1616	56	3		3	C1orf85	1	156262835	Silent	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	87750162	156262835	92987786	3	44218											
DUSP27	92235	broad.mit.edu	37	chr1	167097663	167097663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatgaggtctgaagaagagGgagagaaagagaggacagaa	18	5	16	2	0	1	7	0	2	1	5	1	11	1	9	0	3	0	0	0	3	5	1			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:167097663G>A	ENST00000361200.2	+	6	3461	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Missense_Mutation_p.G1099R|DUSP27_ENST00000443333.1_Missense_Mutation_p.G1099R			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	1099					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	p.G1099*(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						TGAAGAAGAGGGAGAGAAAGA	0.498													A	167097663	G	A	167097663	3	1	468	1	0	0	0	0	1	0	0	0	4863	1233	43	2	3313	2	DUSP27	1	167097663	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	10834828	167097663	82152958	4	44219											
PRG4	10216	broad.mit.edu	37	chr1	186276099	186276099	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggagcctgcacccaccacCaccaaggagcctgcacccac	12	2	8	19	0	0	0	0	0	0	0	0	2	0	2	7	2	4	2	7	2	2	0			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:186276099C>T	ENST00000445192.2	+	7	1293	c.1248C>T	c.(1246-1248)acC>acT	p.T416T	PRG4_ENST00000367483.4_Silent_p.T375T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367486.3_Silent_p.T373T|PRG4_ENST00000367485.4_Silent_p.T323T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	416	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			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						CACCCACCACCACCAAGGAGC	0.657													T	186276099	C	T	186276099	2	4	468	1	0	0	0	0	0	0	0	1	12567	581	21	2		2	PRG4	1	186276099	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	19178436	186276099	62974522	5	44220											
OBSCN	84033	broad.mit.edu	37	chr1	228451927	228451927	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggcccagacagaggtgAcgtggtacaaggacgggaag	12	3	16	10	2	0	3	0	1	0	2	0	5	0	5	2	5	1	1	2	5	3	1			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:228451927A>C	ENST00000570156.2	+	18	5322	c.5248A>C	c.(5248-5250)Acg>Ccg	p.T1750P	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1566P|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.T1566P|OBSCN_ENST00000359599.6_Missense_Mutation_p.T222P	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	738	Fibronectin type-III 2.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GACAGAGGTGACGTGGTACAA	0.662													C	228451927	A	C	228451927	3	2	468	1	0	0	0	0	1	0	0	0	10888	275	10	5	4754	5	OBSCN	1	228451927	Missense_Mutation	SNP	A	TCGA-F6-A8O4-01A-11D-A36O-08	42175828	228451927	20798694	6	44221											
TRIM58	25893	broad.mit.edu	37	chr1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaatgcagaggcagcGcttcagattggagtttgaga	12	9	15	5	1	1	3	1	1	0	3	1	6	1	5	0	3	2	4	0	3	1	3	rs147592698	by1000genomes	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													A	248028032	G	A	248028032	3	1	468	1	0	0	0	0	1	0	0	0	16632	1087	38	1	552	1	TRIM58	1	248028032	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	19576105	248028032	1222589	7	44222											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	468	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		209113112	34086261	8	44223											
CXCR1	3577	broad.mit.edu	37	chr2	219028901	219028901	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcagaggttggaagagacaTtgacagacgaagaagtgtag	15	8	14	4	1	1	5	1	1	0	4	1	8	1	6	0	2	0	2	0	2	4	4			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr2:219028901T>C	ENST00000295683.2	-	2	1154	c.1034A>G	c.(1033-1035)aAt>aGt	p.N345S		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	345					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						GGAAGAGACATTGACAGACGA	0.478													C	219028901	T	C	219028901	3	2	468	1	0	0	0	0	1	0	0	0	4123	1493	52	3	22	3	CXCR1	2	219028901	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	9915789	219028901	24170472	9	44224											
CNTN4	152330	broad.mit.edu	37	chr3	2967440	2967440	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacacctggaagaaaggaagGgatatattaaaagaaaatga	21	7	10	3	0	0	3	0	1	0	2	0	6	0	6	1	3	1	0	1	3	10	4			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:2967440G>A	ENST00000397461.1	+	12	1719	c.1335G>A	c.(1333-1335)agG>agA	p.R445R	CNTN4_ENST00000475817.1_3'UTR|CNTN4_ENST00000397459.2_Silent_p.R117R|CNTN4_ENST00000427331.1_Silent_p.R445R|CNTN4_ENST00000358480.3_Silent_p.R226R|CNTN4_ENST00000448906.2_Silent_p.R117R|CNTN4_ENST00000418658.1_Silent_p.R445R	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	445	Ig-like C2-type 5.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		AGAAAGGAAGGGATATATTAA	0.343													A	2967440	G	A	2967440	2	1	468	1	0	0	0	0	0	0	0	1	3674	1223	43	2		2	CNTN4	3	2967440	Silent	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		2967440	195054990	10	44225											
SCN11A	11280	broad.mit.edu	37	chr3	38888474	38888474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tactatctaggccatcagagCcaccgagtaccctagcggtg	10	8	10	13	2	2	1	1	0	1	1	2	2	2	1	4	2	4	1	4	2	5	5			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:38888474C>T	ENST00000302328.3	-	26	5285	c.5087G>A	c.(5086-5088)gGc>gAc	p.G1696D	SCN11A_ENST00000456224.3_Missense_Mutation_p.G1658D|SCN11A_ENST00000450244.1_Missense_Mutation_p.G1696D	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1696					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GCCATCAGAGCCACCGAGTAC	0.448													T	38888474	C	T	38888474	3	4	468	1	0	0	0	0	1	0	0	0	14006	739	26	2	292	2	SCN11A	3	38888474	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	35921034	38888474	159133956	11	44226											
IQCG	84223	broad.mit.edu	37	chr3	197670672	197670672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagatgctctgtctcccttCgtactgaacgggcatgatgt	7	12	11	11	2	2	3	0	2	2	1	4	3	2	3	1	1	3	4	1	1	2	2			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr3:197670672C>T	ENST00000265239.6	-	4	683	c.259G>A	c.(259-261)Gaa>Aaa	p.E87K	IQCG_ENST00000480302.1_5'UTR|IQCG_ENST00000453254.1_Missense_Mutation_p.E87K|IQCG_ENST00000455191.1_Missense_Mutation_p.E87K	NM_032263.3	NP_115639.1	Q9H095	IQCG_HUMAN	IQ motif containing G	87										autonomic_ganglia(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;7.19e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.149)		TGTCTCCCTTCGTACTGAACG	0.453													T	197670672	C	T	197670672	3	4	468	1	0	0	0	0	1	0	0	0	7868	893	31	1	1108	1	IQCG	3	197670672	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	158782198	197670672	351758	12	44227											
SLC6A19	340024	broad.mit.edu	37	chr5	1221296	1221296	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacatcgagttcatgatcggCcacaagcccaacatcttctg	11	9	8	13	2	3	1	1	1	2	0	5	3	3	1	2	1	2	1	2	1	2	2			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:1221296C>A	ENST00000304460.10	+	11	1625	c.1569C>A	c.(1567-1569)ggC>ggA	p.G523G		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	523					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCATGATCGGCCACAAGCCCA	0.542													A	1221296	C	A	1221296	2	1	468	1	0	0	0	0	0	0	0	1	14776	726	26	4		4	SLC6A19	5	1221296	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		1221296	179693964	13	44228											
APC	324	broad.mit.edu	37	chr5	112176256	112176256	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaacttttccacagctacAtctctaagtgatctaacaat	15	13	3	10	0	2	1	0	1	2	0	4	1	3	1	1	0	4	1	1	0	6	6			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:112176256A>C	ENST00000457016.1	+	16	5345	c.4965A>C	c.(4963-4965)acA>acC	p.T1655T	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Silent_p.T1655T|APC_ENST00000508376.2_Silent_p.T1655T			P25054	APC_HUMAN	adenomatous polyposis coli	1655	Ser-rich.				canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	p.K1192fs*3(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		CCACAGCTACATCTCTAAGTG	0.448		12	"D, Mis, N, F, S"		"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"	"colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)			C	112176256	A	C	112176256	2	2	468	1	0	0	0	0	0	0	0	1	765	204	8	5		5	APC	5	112176256	Silent	SNP	A	TCGA-F6-A8O4-01A-11D-A36O-08	110954960	112176256	68739004	14	44229											
CNOT6	57472	broad.mit.edu	37	chr5	179998424	179998424	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttacacgaattacacatttGatttcaaggtgtgtcttgag	11	15	8	7	1	2	2	1	2	1	0	2	3	2	2	0	1	2	0	0	1	4	5			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr5:179998424G>A	ENST00000393356.1	+	13	1877	c.1453G>A	c.(1453-1455)Gat>Aat	p.D485N	CNOT6_ENST00000261951.4_Missense_Mutation_p.D485N			Q9ULM6	CNOT6_HUMAN	CCR4-NOT transcription complex, subunit 6	485					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	exonuclease activity|metal ion binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|skin(1)	23	all_cancers(89;3.3e-05)|all_epithelial(37;7.38e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00543)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	OV - Ovarian serous cystadenocarcinoma(192;0.023)		TTACACATTTGATTTCAAGGT	0.413													A	179998424	G	A	179998424	3	1	468	1	0	0	0	0	1	0	0	0	3653	1290	45	2	1491	2	CNOT6	5	179998424	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	67822168	179998424	916836	15	44230											
DEFB113	245927	broad.mit.edu	37	chr6	49936524	49936524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccggcttgcaagcaccacGaacaagctgacattctcttt	10	11	7	13	2	1	1	0	1	1	0	3	2	2	1	2	1	4	4	2	1	3	4			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr6:49936524G>A	ENST00000398718.1	-	2	114	c.115C>T	c.(115-117)Cgt>Tgt	p.R39C		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	39					defense response to bacterium	extracellular region		p.R39C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CAAGCACCACGAACAAGCTGA	0.403													A	49936524	G	A	49936524	3	1	468	1	0	0	0	0	1	0	0	0	4440	1058	37	1	129	1	DEFB113	6	49936524	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		49936524	121178543	16	44231											
ZNF107	51427	broad.mit.edu	37	chr7	64168484	64168484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattactaaccataagataaTttatactggagagaaacccc	17	10	5	9	0	0	2	0	0	0	2	0	4	0	3	3	1	4	0	3	1	7	7			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:64168484T>C	ENST00000395391.1	+	4	3177	c.1802T>C	c.(1801-1803)aTt>aCt	p.I601T	ZNF107_ENST00000344930.3_Missense_Mutation_p.I601T|ZNF107_ENST00000423627.1_Missense_Mutation_p.I601T			Q9UII5	ZN107_HUMAN	zinc finger protein 107	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(18)|ovary(1)|stomach(1)	37		Lung NSC(55;0.00948)|all_lung(88;0.0249)				CATAAGATAATTTATACTGGA	0.328													C	64168484	T	C	64168484	3	2	468	1	0	0	0	0	1	0	0	0	17816	1493	52	3	1808	3	ZNF107	7	64168484	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08		64168484	94970179	17	44232											
YWHAG	7532	broad.mit.edu	37	chr7	75959375	75959375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctccaactccttctctatcTtctcccggtacgcacggacc	6	11	5	19	3	3	0	0	0	3	0	7	1	5	1	5	2	2	2	5	2	3	4			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:75959375T>C	ENST00000307630.3	-	2	485	c.263A>G	c.(262-264)aAg>aGg	p.K88R		NM_012479.3	NP_036611.2	P61981	1433G_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, gamma polypeptide	88					G2/M transition of mitotic cell cycle|regulation of neuron differentiation|regulation of signal transduction|regulation of synaptic plasticity	cytosol	insulin-like growth factor receptor binding|protein kinase C binding|protein kinase C inhibitor activity			endometrium(2)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8						CTTCTCTATCTTCTCCCGGTA	0.532													C	75959375	T	C	75959375	3	2	468	1	0	0	0	0	1	0	0	0	17605	1609	56	3	484	3	YWHAG	7	75959375	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	11790891	75959375	83179288	18	44233											
STEAP2	261729	broad.mit.edu	37	chr7	89856666	89856666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaccaagtataggagatttCcaccttggttggaaacctgg	11	10	11	9	0	0	1	0	0	0	1	1	3	1	2	4	4	1	3	4	4	4	5			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr7:89856666C>G	ENST00000287908.3	+	3	1267	c.874C>G	c.(874-876)Cca>Gca	p.P292A	STEAP2_ENST00000394621.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394632.1_Missense_Mutation_p.P292A|STEAP2_ENST00000394629.2_Missense_Mutation_p.P292A|STEAP2_ENST00000402625.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394622.2_Missense_Mutation_p.P292A|STEAP2_ENST00000394626.1_Missense_Mutation_p.P292A	NM_001244944.1|NM_152999.3	NP_001231873.1|NP_694544.2	Q8NFT2	STEA2_HUMAN	STEAP family member 2, metalloreductase	292	Ferric oxidoreductase.				electron transport chain|endocytosis|Golgi to plasma membrane transport|ion transport|iron ion homeostasis|regulated secretory pathway|response to hormone stimulus	cytosol|early endosome|endosome membrane|integral to Golgi membrane|plasma membrane|trans-Golgi network transport vesicle|vesicular fraction	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)|skin(1)	15	all_hematologic(106;0.112)					TAGGAGATTTCCACCTTGGTT	0.438													G	89856666	C	G	89856666	3	3	468	1	0	0	0	0	1	0	0	0	15374	855	30	4	880	4	STEAP2	7	89856666	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	13897291	89856666	69281997	19	44234											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37729690	37729690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccgctggggaggctggcGcaccacacgtcgctggccca	6	5	15	15	4	0	0	0	0	0	0	2	2	1	1	3	5	0	4	3	5	0	0			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr8:37729690G>A	ENST00000330843.4	-	4	2642	c.2630C>T	c.(2629-2631)gCg>gTg	p.A877V	RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	877					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGAGGCTGGCGCACCACACGT	0.617													A	37729690	G	A	37729690	3	1	468	1	0	0	0	0	1	0	0	0	12981	1087	38	1	1233	1	RAB11FIP1	8	37729690	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		37729690	108634332	20	44235											
TLE4	7091	broad.mit.edu	37	chr9	82336786	82336786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggggcggcagctgcagcagCacgacttcacctcccaggta	9	5	13	14	2	1	0	1	0	0	0	2	1	2	0	2	4	4	6	2	4	1	2			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:82336786C>T	ENST00000376520.4	+	18	2893	c.2065C>T	c.(2065-2067)Cac>Tac	p.H689Y	TLE4_ENST00000376534.4_Missense_Mutation_p.H294Y|TLE4_ENST00000376552.2_Missense_Mutation_p.H657Y|TLE4_ENST00000376537.4_Missense_Mutation_p.H689Y|TLE4_ENST00000265284.6_Missense_Mutation_p.H632Y|TLE4_ENST00000376544.3_Missense_Mutation_p.H588Y	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GCTGCAGCAGCACGACTTCAC	0.557													T	82336786	C	T	82336786	3	4	468	1	0	0	0	0	1	0	0	0	16041	710	25	2	2035	2	TLE4	9	82336786	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		82336786	58876645	21	44236											
UBQLN1	29979	broad.mit.edu	37	chr9	86284200	86284200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtgggttttcagttattTgttgcaacaagctctgcatt	7	18	10	6	0	2	0	1	0	1	0	2	0	2	0	0	1	4	7	0	1	3	7			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr9:86284200T>C	ENST00000376395.4	-	7	1671	c.1148A>G	c.(1147-1149)cAa>cGa	p.Q383R	UBQLN1_ENST00000257468.7_Missense_Mutation_p.Q383R	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	383					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTCAGTTATTTGTTGCAACAA	0.378													C	86284200	T	C	86284200	3	2	468	1	0	0	0	0	1	0	0	0	16998	1812	63	3	641	3	UBQLN1	9	86284200	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	3947414	86284200	54929231	22	44237											
NLRP14	338323	broad.mit.edu	37	chr11	7067952	7067952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctgttctgtgcttcataCaaatgaacacttgagagaat	12	14	7	8	0	3	3	1	2	2	1	4	4	3	3	0	0	3	2	0	0	4	4			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:7067952C>A	ENST00000299481.4	+	5	2358	c.2012C>A	c.(2011-2013)aCa>aAa	p.T671K		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	671					cell differentiation|multicellular organismal development|spermatogenesis		ATP binding			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GTGCTTCATACAAATGAACAC	0.368													A	7067952	C	A	7067952	3	1	468	1	0	0	0	0	1	0	0	0	10552	478	17	4	2026	4	NLRP14	11	7067952	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		7067952	127938564	23	44238											
TPH1	7166	broad.mit.edu	37	chr11	18051095	18051095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaagtccgcaaaatactttCgacgtttacggtagacattg	12	11	8	10	4	0	1	0	0	0	1	2	2	1	1	2	1	2	3	2	1	6	6			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:18051095C>T	ENST00000250018.2	-	4	996	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	TPH1_ENST00000341556.2_Missense_Mutation_p.R145Q	NM_004179.2	NP_004170.1	P17752	TPH1_HUMAN	tryptophan hydroxylase 1	145					aromatic amino acid family metabolic process|hormone biosynthetic process|serotonin biosynthetic process	cytosol	amino acid binding|iron ion binding|tryptophan 5-monooxygenase activity			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(14)|prostate(1)|stomach(1)	25					L-Tryptophan(DB00150)|Tetrahydrobiopterin(DB00360)	AAAATACTTTCGACGTTTACG	0.264													T	18051095	C	T	18051095	3	4	468	1	0	0	0	0	1	0	0	0	16502	884	31	1	928	1	TPH1	11	18051095	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	10983143	18051095	116955421	24	44239											
PDE2A	5138	broad.mit.edu	37	chr11	72290400	72290400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtggccaagatgatgtcccGcatcagatccagcatgcgct	9	9	11	12	2	1	3	1	1	0	2	3	3	3	3	3	1	2	3	3	1	1	0			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:72290400G>A	ENST00000334456.5	-	27	2529	c.2284C>T	c.(2284-2286)Cgg>Tgg	p.R762W	PDE2A_ENST00000418754.2_Missense_Mutation_p.R647W|PDE2A_ENST00000376450.3_Missense_Mutation_p.R506W|PDE2A_ENST00000444035.2_Missense_Mutation_p.R753W|PDE2A_ENST00000540345.1_Missense_Mutation_p.R753W|PDE2A_ENST00000544570.1_Missense_Mutation_p.R755W	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	762	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	ATGATGTCCCGCATCAGATCC	0.607													A	72290400	G	A	72290400	3	1	468	1	0	0	0	0	1	0	0	0	11712	1086	38	1	561	1	PDE2A	11	72290400	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	54239305	72290400	62716116	25	44240											
MMP10	4319	broad.mit.edu	37	chr11	102647464	102647464	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgagtgaaagagccccagGgagtggccaagttcatgagc	11	6	15	9	0	1	4	1	3	0	1	1	5	1	5	3	2	2	2	3	2	2	1			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr11:102647464G>T	ENST00000279441.4	-	5	702	c.666C>A	c.(664-666)tcC>tcA	p.S222S		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	222					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		AGAGCCCCAGGGAGTGGCCAA	0.453													T	102647464	G	T	102647464	2	4	468	1	0	0	0	0	0	0	0	1	9724	1219	43	4		4	MMP10	11	102647464	Silent	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	30357064	102647464	32359052	26	44241											
GPC5	2262	broad.mit.edu	37	chr13	92560208	92560208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttatactcagcgtgtggTtggaaatggaatcaaagccc	12	11	11	7	1	2	0	2	0	0	0	2	2	2	2	1	3	3	2	1	3	6	4			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr13:92560208T>C	ENST00000377067.3	+	6	1670	c.1298T>C	c.(1297-1299)gTt>gCt	p.V433A		NM_004466.4	NP_004457.1	P78333	GPC5_HUMAN	glypican 5	433						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(4)|endometrium(6)|kidney(4)|large_intestine(7)|lung(34)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69	all_cancers(3;1.43e-07)|all_neural(89;0.0804)|Medulloblastoma(90;0.163)	Lung NSC(4;0.00454)				CAGCGTGTGGTTGGAAATGGA	0.383													C	92560208	T	C	92560208	3	2	468	1	0	0	0	0	1	0	0	0	6655	1725	60	3	1320	3	GPC5	13	92560208	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08		92560208	22609670	27	44242											
NOVA1	4857	broad.mit.edu	37	chr14	26917177	26917178	+	Frame_Shift_Ins	INS	-	-	G																															ggggcactcaacccactttcINStgaggattggcagcccgaac																										TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:26917177_26917178insG	ENST00000539517.2	-	5	1828_1829	c.1511_1512insC	c.(1510-1512)cagfs	p.Q504fs	NOVA1_ENST00000465357.2_Frame_Shift_Ins_p.Q480fs|NOVA1_ENST00000267422.7_Frame_Shift_Ins_p.Q382fs	NM_002515.2	NP_002506.2	P51513	NOVA1_HUMAN	neuro-oncological ventral antigen 1	507					locomotory behavior|RNA splicing|synaptic transmission	nucleus	RNA binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(265;0.0135)		AACCCACTTTCTGAGGATTGGC	0.431													G	26917178	-	G	26917177	7	5	468	1	0	1	1	0	0	0	0	0	10630	912	32	0	15	0	NOVA1	14	26917177	Frame_Shift_Ins	INS	-	TCGA-F6-A8O4-01A-11D-A36O-08		26917177	80432363	28	44243											
SPTLC2	9517	broad.mit.edu	37	chr14	77984443	77984443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggctctggactcaataaTtggggtggcaggaaatccaa	11	9	12	9	0	2	0	1	0	1	0	3	2	3	2	2	6	0	2	2	6	4	2			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr14:77984443T>C	ENST00000216484.2	-	11	1700	c.1507A>G	c.(1507-1509)Att>Gtt	p.I503V		NM_004863.3	NP_004854.1	O15270	SPTC2_HUMAN	serine palmitoyltransferase, long chain base subunit 2	503						integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(5)	19			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0346)	L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)	GACTCAATAATTGGGGTGGCA	0.463													C	77984443	T	C	77984443	3	2	468	1	0	0	0	0	1	0	0	0	15220	1493	52	3	189	3	SPTLC2	14	77984443	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	51067266	77984443	29365097	29	44244											
HERC1	8925	broad.mit.edu	37	chr15	63967167	63967167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcgtttggtgctctgtttgCccatgtcttcatgaacgcca	5	15	10	11	2	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	1	3			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr15:63967167C>T	ENST00000443617.2	-	38	7307	c.7220G>A	c.(7219-7221)gGc>gAc	p.G2407D		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2407					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCTCTGTTTGCCCATGTCTTC	0.502													T	63967167	C	T	63967167	3	4	468	1	0	0	0	0	1	0	0	0	7112	739	26	2	7529	2	HERC1	15	63967167	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		63967167	38564225	30	44245											
RAB40C	57799	broad.mit.edu	37	chr16	677517	677517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccctggccagcggggcCgggggcggcggcagcaaggg	5	3	20	13	4	0	0	0	0	0	0	1	0	1	0	3	8	3	2	3	8	2	1			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr16:677517C>T	ENST00000535977.1	+	7	963	c.741C>T	c.(739-741)gcC>gcT	p.A247A	RAB40C_ENST00000539661.1_Silent_p.A247A|RAB40C_ENST00000538492.1_Silent_p.A247A|RAB40C_ENST00000248139.3_Silent_p.A247A	NM_001172663.1	NP_001166134.1	Q96S21	RB40C_HUMAN	RAB40C, member RAS oncogene family	247					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			NS(1)|endometrium(2)|large_intestine(1)|lung(1)|prostate(1)	6		Hepatocellular(780;0.0218)				CCAGCGGGGCCGGGGGCGGCG	0.642													T	677517	C	T	677517	2	4	468	1	0	0	0	0	0	0	0	1	13030	639	23	1		1	RAB40C	16	677517	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		677517	89677236	31	44246											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	468	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		7578406	73616804	32	44247											
TP53	7157	broad.mit.edu	37	chr17	7578538	7578538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagttggcaaaacatcttgTtgagggcaggggagtactgt	10	10	14	7	0	1	1	0	1	1	0	1	2	1	2	1	4	2	5	1	4	3	4			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:7578538T>C	ENST00000420246.2	-	5	524	c.392A>G	c.(391-393)aAc>aGc	p.N131S	TP53_ENST00000455263.2_Missense_Mutation_p.N131S|TP53_ENST00000413465.2_Missense_Mutation_p.N131S|TP53_ENST00000269305.4_Missense_Mutation_p.N131S|TP53_ENST00000445888.2_Missense_Mutation_p.N131S|TP53_ENST00000359597.4_Missense_Mutation_p.N131S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	131	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in a sporadic cancer; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in a sporadic cancer; somatic mutation).|N -> Y (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.0?(8)|p.N131del(8)|p.N131I(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.N131S(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.A129_N131delALN(1)|p.L130fs*16(1)|p.N131T(1)|p.N38I(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)		AAACATCTTGTTGAGGGCAGG	0.557		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)			C	7578538	T	C	7578538	3	2	468	1	0	0	0	0	1	0	0	0	16482	1725	60	3	906	3	TP53	17	7578538	Missense_Mutation	SNP	T	TCGA-F6-A8O4-01A-11D-A36O-08	132	7578538	73616672	33	44248											
PTRF	284119	broad.mit.edu	37	chr17	40557199	40557199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgaagtcgtccacgcgccGcaggccgctgcgcttgatac	6	8	12	15	6	0	2	0	2	0	0	2	2	1	2	3	1	2	3	3	1	2	3	rs145869708		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr17:40557199G>A	ENST00000357037.5	-	2	1098	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W		NM_012232.5	NP_036364.2	Q6NZI2	PTRF_HUMAN	polymerase I and transcript release factor	227					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription initiation from RNA polymerase I promoter	caveola|cytosol|endoplasmic reticulum|microsome|mitochondrion|nucleoplasm	protein binding|rRNA primary transcript binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		all_cancers(22;0.00146)|Breast(137;0.00116)|all_epithelial(22;0.0134)		BRCA - Breast invasive adenocarcinoma(366;0.193)		TCCACGCGCCGCAGGCCGCTG	0.622													A	40557199	G	A	40557199	3	1	468	1	0	0	0	0	1	0	0	0	12903	1086	38	1	497	1	PTRF	17	40557199	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	32978661	40557199	40638011	34	44249											
ATP8B3	148229	broad.mit.edu	37	chr19	1788945	1788945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagacctgcaccatcatgCtggccatgctcttgtagaag	10	9	9	13	0	2	2	1	0	1	2	2	2	2	2	4	1	3	4	4	1	2	2			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:1788945C>T	ENST00000539485.1	-	24	3283	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	ATP8B3_ENST00000525591.1_Missense_Mutation_p.S970N|ATP8B3_ENST00000310127.6_Missense_Mutation_p.S1007N			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1007					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		CACCATCATGCTGGCCATGCT	0.632													T	1788945	C	T	1788945	3	4	468	1	0	0	0	0	1	0	0	0	1201	797	28	2	906	2	ATP8B3	19	1788945	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		1788945	57340038	35	44250											
MUC16	94025	broad.mit.edu	37	chr19	9015351	9015351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagccagagtacagaGggccaacactggtgttcttg	9	9	13	10	0	2	2	0	0	2	2	2	2	2	2	2	2	4	3	2	2	2	3	rs150789116	by1000genomes	TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:9015351G>A	ENST00000397910.4	-	30	38440	c.38237C>T	c.(38236-38238)cCt>cTt	p.P12746L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12748	SEA 5.			Missing (in Ref. 3; AAK74120).	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						AGAGTACAGAGGGCCAACACT	0.512													A	9015351	G	A	9015351	3	1	468	1	0	0	0	0	1	0	0	0	10049	1000	35	2	5506	2	MUC16	19	9015351	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08	7226406	9015351	50113632	36	44251											
NLRP2	55655	broad.mit.edu	37	chr19	55495054	55495054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaataaaggagaatctccCggagaatgtcactgcgtctg	12	9	12	8	2	3	2	1	0	2	2	4	4	3	2	1	3	1	1	1	3	5	2			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr19:55495054C>T	ENST00000543010.1	+	6	2131	c.1988C>T	c.(1987-1989)cCg>cTg	p.P663L	NLRP2_ENST00000538819.1_Missense_Mutation_p.P639L|NLRP2_ENST00000339757.7_Missense_Mutation_p.P641L|NLRP2_ENST00000537859.1_Missense_Mutation_p.P641L|NLRP2_ENST00000263437.6_Missense_Mutation_p.P660L|NLRP2_ENST00000427260.2_Missense_Mutation_p.P640L|NLRP2_ENST00000448584.2_Missense_Mutation_p.P663L|NLRP2_ENST00000391721.4_Missense_Mutation_p.P639L	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	663					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAATCTCCCGGAGAATGTC	0.493													T	55495054	C	T	55495054	3	4	468	1	0	0	0	0	1	0	0	0	10553	652	23	1	2006	1	NLRP2	19	55495054	Missense_Mutation	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08	46479703	55495054	3633929	37	44252											
PHF5A	84844	broad.mit.edu	37	chr22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacagatcacacagcGcccctggtaagatccatagt	11	8	7	15	1	1	2	1	0	0	2	4	2	4	2	5	1	1	1	5	1	2	2			TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507													A	41863526	G	A	41863526	3	1	468	1	0	0	0	0	1	0	0	0	11914	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-F6-A8O4-01A-11D-A36O-08		41863526	9441040	38	44253											
CSF2RA	1438	broad.mit.edu	37	chrX	1409341	1409341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaattactttctggttaaCggaaccagccgagaaattgg	12	10	10	9	3	1	1	0	0	1	1	1	3	1	2	2	3	4	2	2	3	5	4	rs140515543		TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:1409341C>T	ENST00000381524.3	+	7	771	c.585C>T	c.(583-585)aaC>aaT	p.N195N	CSF2RA_ENST00000381529.3_Silent_p.N195N|CSF2RA_ENST00000432318.2_Silent_p.N195N|CSF2RA_ENST00000355805.2_Silent_p.N195N|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381509.3_Silent_p.N195N|CSF2RA_ENST00000501036.2_Silent_p.N62N|CSF2RA_ENST00000355432.3_Silent_p.N195N|CSF2RA_ENST00000381500.1_Silent_p.N195N|CSF2RA_ENST00000417535.2_Silent_p.N195N|CSF2RA_ENST00000361536.3_Silent_p.N195N			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	195						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TTCTGGTTAACGGAACCAGCC	0.398													T	1409341	C	T	1409341	2	4	468	1	0	0	0	0	0	0	0	1	3967	535	19	1		1	CSF2RA	23	1409341	Silent	SNP	C	TCGA-F6-A8O4-01A-11D-A36O-08		1409341	153861219	39	44254											
ATRX	546	broad.mit.edu	37	chrX	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-																															agttcatgttggctgtggtcTcaatcagtttttttgccttc																										TCGA-F6-A8O4-01A-11D-A36O-08	TCGA-F6-A8O4-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b84738a-cf7a-4a77-ad75-1dfd122b8b53	9e076e01-70de-4838-93e2-3dd3b262ee64	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					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)	GGCTGTGGTCTCAATCAGTTTTTT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939669	TCAA	-	76939666	7	5	468	1	0	1	0	1	0	0	0	0	1213	1551	54	0	6504	0	ATRX	23	76939666	Frame_Shift_Del	DEL	TCAA	TCGA-F6-A8O4-01A-11D-A36O-08	75530325	76939666	78330894	40	44255											
ARID1A	8289	broad.mit.edu	37	chr1	27059237	27059237	+	Frame_Shift_Del	DEL	A	A	-																															gacctccagtaagggagggcAagaagatatgaacctgagcc																										TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:27059237delA	ENST00000324856.7	+	4	2245	c.1874delA	c.(1873-1875)caafs	p.Q625fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q625fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q242fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	625					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGGGAGGGCAAGAAGATATG	0.488			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27059237	A	-	27059237	7	5	469	1	0	1	0	1	0	0	0	0	916	130	5	0	1888	0	ARID1A	1	27059237	Frame_Shift_Del	DEL	A	TCGA-FG-5962-01B-11D-1893-08		27059237	222191384	1	44256											
HRNR	388697	broad.mit.edu	37	chr1	152193268	152193268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgaccatagctggaagaCgaacctgagctagatctgtg	11	9	12	9	1	1	4	0	2	1	2	1	6	1	5	2	1	4	3	2	1	4	2	rs150466362		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr1:152193268C>T	ENST00000368801.2	-	3	912	c.837G>A	c.(835-837)tcG>tcA	p.S279S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	279					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTGGAAGACGAACCTGAGC	0.577													T	152193268	C	T	152193268	2	4	469	1	0	0	0	0	0	0	0	1	7414	523	19	1		1	HRNR	1	152193268	Silent	SNP	C	TCGA-FG-5962-01B-11D-1893-08	125134031	152193268	97057353	2	44257											
CCDC88A	55704	broad.mit.edu	37	chr2	55544946	55544946	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattctggttcatgagtgagGtactttgggaattaagggtg	9	14	14	4	0	2	2	1	2	1	0	2	3	2	3	0	4	1	2	0	4	3	5			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:55544946G>T	ENST00000436346.1	-	20	4197	c.3356C>A	c.(3355-3357)aCc>aAc	p.T1119N	CCDC88A_ENST00000336838.6_Missense_Mutation_p.T1118N|AC012358.8_ENST00000594078.1_RNA|AC012358.8_ENST00000599475.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.T1119N|CCDC88A_ENST00000413716.2_Missense_Mutation_p.T1118N|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000608103.1_RNA|AC012358.8_ENST00000600219.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	1119					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						CATGAGTGAGGTACTTTGGGA	0.333													T	55544946	G	T	55544946	3	4	469	1	0	0	0	0	1	0	0	0	2891	1261	44	4	2311	4	CCDC88A	2	55544946	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		55544946	187654427	3	44258											
GPAT2	150763	broad.mit.edu	37	chr2	96691942	96691942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctccatacctgcagggaaaAgggctgagctaggtgcaccc	10	6	13	12	0	0	1	0	1	0	0	1	2	1	2	3	3	4	5	3	3	4	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:96691942A>G	ENST00000434632.1	-	12	1603	c.1144T>C	c.(1144-1146)Ttt>Ctt	p.F382L	GPAT2_ENST00000359548.4_Missense_Mutation_p.F382L|GPAT2_ENST00000453542.1_Missense_Mutation_p.F311L|GPAT2_ENST00000377137.3_Missense_Mutation_p.F382L			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	382					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						TGCAGGGAAAAGGGCTGAGCT	0.647													G	96691942	A	G	96691942	3	3	469	1	0	0	0	0	1	0	0	0	6643	72	3	3	1291	3	GPAT2	2	96691942	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	41146996	96691942	146507431	4	44259											
TFPI	7035	broad.mit.edu	37	chr2	188332562	188332562	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccactgtacttaaatgggcgGcatttcccaatgactgaatt	11	12	8	10	1	0	2	0	2	0	0	1	2	1	2	2	2	1	2	2	2	5	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:188332562G>A	ENST00000233156.3	-	7	1020	c.726C>T	c.(724-726)tgC>tgT	p.C242C	AC007319.1_ENST00000412276.1_RNA|TFPI_ENST00000392365.1_Silent_p.C242C|AC007319.1_ENST00000453517.1_RNA	NM_006287.4	NP_006278.1	P10646	TFPI1_HUMAN	tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)	242	BPTI/Kunitz inhibitor 3.				blood coagulation, extrinsic pathway	extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.0554)		Coagulation factor VIIa(DB00036)	TAAATGGGCGGCATTTCCCAA	0.418													A	188332562	G	A	188332562	2	1	469	1	0	0	0	0	0	0	0	1	15908	1195	42	2		2	TFPI	2	188332562	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08	91640620	188332562	54866811	5	44260											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	469	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	20780550	209113112	34086261	6	44261											
UGT1A6	54578	broad.mit.edu	37	chr2	234681041	234681041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctgcgccccgcagcccacGacctcacctggtaccagtac	8	5	8	20	3	1	0	1	0	0	0	1	1	1	0	7	1	4	3	7	1	2	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr2:234681041G>A	ENST00000305139.6	+	5	1574	c.1435G>A	c.(1435-1437)Gac>Aac	p.D479N	UGT1A1_ENST00000609637.1_Missense_Mutation_p.D477N|UGT1A1_ENST00000608381.1_Missense_Mutation_p.D481N|UGT1A7_ENST00000373426.3_Missense_Mutation_p.D477N|UGT1A8_ENST00000305208.5_Missense_Mutation_p.D480N|UGT1A1_ENST00000609767.1_Missense_Mutation_p.D481N|UGT1A10_ENST00000344644.5_Missense_Mutation_p.D477N|UGT1A6_ENST00000373424.1_Missense_Mutation_p.D212N|UGT1A1_ENST00000608383.1_Missense_Mutation_p.D480N|UGT1A5_ENST00000373414.3_Missense_Mutation_p.D481N|UGT1A4_ENST00000373409.3_Missense_Mutation_p.D481N|UGT1A1_ENST00000373450.4_Missense_Mutation_p.D477N|UGT1A9_ENST00000354728.4_Missense_Mutation_p.D477N|UGT1A3_ENST00000482026.1_Missense_Mutation_p.D481N	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		CGCAGCCCACGACCTCACCTG	0.597													A	234681041	G	A	234681041	3	1	469	1	0	0	0	0	1	0	0	0	17051	1058	37	1	1453	1	UGT1A6	2	234681041	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	25567929	234681041	8518332	7	44262											
KCNH8	131096	broad.mit.edu	37	chr3	19554646	19554646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgggcttaagcttaaagcAactggcctcgggaacggtgc	9	8	13	11	2	0	0	0	0	0	0	1	1	0	1	2	4	5	3	2	4	5	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:19554646A>C	ENST00000328405.2	+	13	2530	c.2264A>C	c.(2263-2265)cAa>cCa	p.Q755P		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	755						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						AGCTTAAAGCAACTGGCCTCG	0.517													C	19554646	A	C	19554646	3	2	469	1	0	0	0	0	1	0	0	0	8096	130	5	5	2314	5	KCNH8	3	19554646	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		19554646	178467784	8	44263											
C3orf30	152405	broad.mit.edu	37	chr3	118870125	118870125	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaccccctgaattttatgCtgtgccaggtatagaattgg	10	12	11	8	0	0	2	0	1	0	1	0	3	0	3	3	3	2	2	3	3	5	5			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:118870125C>T	ENST00000295622.1	+	3	1637	c.1597C>T	c.(1597-1599)Ctg>Ttg	p.L533L	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	533										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		GAATTTTATGCTGTGCCAGGT	0.363													T	118870125	C	T	118870125	2	4	469	1	0	0	0	0	0	0	0	1	2241	796	28	2		2	C3orf30	3	118870125	Silent	SNP	C	TCGA-FG-5962-01B-11D-1893-08	99315479	118870125	79152305	9	44264											
GTF2E1	2960	broad.mit.edu	37	chr3	120489647	120489647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcccaaaaaagatgcacGcacacttttggcaaggttta	15	9	8	9	1	0	1	0	0	0	1	0	1	0	1	1	2	2	4	1	2	6	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:120489647G>A	ENST00000283875.5	+	3	614	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_005513.2	NP_005504.2	P29083	T2EA_HUMAN	general transcription factor IIE, polypeptide 1, alpha 56kDa	174					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	nucleoplasm	protein binding|zinc ion binding			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)	22				GBM - Glioblastoma multiforme(114;0.159)		AAAGATGCACGCACACTTTTG	0.423													A	120489647	G	A	120489647	3	1	469	1	0	0	0	0	1	0	0	0	6911	1087	38	1	527	1	GTF2E1	3	120489647	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	1619522	120489647	77532783	10	44265											
GPR87	53836	broad.mit.edu	37	chr3	151012049	151012049	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctggttctgatatttgAttttttgaacagccttcttg	7	19	7	8	0	2	3	0	3	2	0	3	3	3	3	2	1	2	1	2	1	2	8			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:151012049A>T	ENST00000260843.4	-	3	1449	c.985T>A	c.(985-987)Tca>Aca	p.S329T	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_023915.3	NP_076404.3	Q9BY21	GPR87_HUMAN	G protein-coupled receptor 87	329						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(6)|large_intestine(6)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	19			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTGATATTTGATTTTTTGAAC	0.358													T	151012049	A	T	151012049	3	4	469	1	0	0	0	0	1	0	0	0	6770	333	12	5	95	5	GPR87	3	151012049	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	30522402	151012049	47010381	11	44266											
PIK3CA	5290	broad.mit.edu	37	chr3	178951958	178951958	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcataaatcttttctcaatgAtgcttggctctggaatgcca	10	15	7	9	0	4	1	2	1	3	0	5	2	4	2	1	2	2	2	1	2	4	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr3:178951958A>G	ENST00000263967.3	+	21	3170	c.3013A>G	c.(3013-3015)Atg>Gtg	p.M1005V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1005	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1005V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTCTCAATGATGCTTGGCTC	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178951958	A	G	178951958	3	3	469	1	0	0	0	0	1	0	0	0	11990	333	12	3	3091	3	PIK3CA	3	178951958	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	27939909	178951958	19070472	12	44267											
SCD5	79966	broad.mit.edu	37	chr4	83557863	83557863	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgttgagtgagatggtaTagcggagaatagaggccaag	13	9	16	3	1	0	5	0	3	0	3	0	7	0	5	1	3	1	2	1	3	5	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr4:83557863T>C	ENST00000319540.4	-	4	1002	c.683A>G	c.(682-684)tAt>tGt	p.Y228C		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	228					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TGAGATGGTATAGCGGAGAAT	0.562													C	83557863	T	C	83557863	3	2	469	1	0	0	0	0	1	0	0	0	13979	1406	49	3	317	3	SCD5	4	83557863	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		83557863	107596413	13	44268											
MOCS2	4338	broad.mit.edu	37	chr5	52402983	52402983	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggctgaagcacgaggAgctgatctccaagctcgaca	11	6	11	13	2	1	2	0	2	1	0	4	5	2	3	2	2	3	4	2	2	2	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:52402983A>G	ENST00000361377.4	-	3	250	c.209T>C	c.(208-210)cTc>cCc	p.L70P	MOCS2_ENST00000582677.1_Missense_Mutation_p.L70P|MOCS2_ENST00000527216.1_Missense_Mutation_p.L65P|MOCS2_ENST00000510818.2_Missense_Mutation_p.L70P|MOCS2_ENST00000450852.3_Missense_Mutation_p.L70P|MOCS2_ENST00000584946.1_Missense_Mutation_p.L70P|MOCS2_ENST00000396954.3_Missense_Mutation_p.S8P|MOCS2_ENST00000508922.1_Missense_Mutation_p.L70P			O96033	MOC2A_HUMAN	molybdenum cofactor synthesis 2	70					Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol|molybdopterin synthase complex	nucleotide binding			endometrium(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	5		Lung NSC(810;3.08e-05)|Breast(144;0.0848)				AAGCACGAGGAGCTGATCTCC	0.408													G	52402983	A	G	52402983	3	3	469	1	0	0	0	0	1	0	0	0	9767	304	11	3	564	3	MOCS2	5	52402983	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		52402983	128512277	14	44269											
PIK3R1	5295	broad.mit.edu	37	chr5	67589217	67589222	+	In_Frame_Del	DEL	TTGAAT	TTGAAT	-																															attaaccttcagttctgtggTtgaattaataaaccactacc																										TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:67589217_67589222delTTGAAT	ENST00000521381.1	+	10	1821_1826	c.1205_1210delTTGAAT	c.(1204-1212)gttgaatta>gta	p.EL403del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.EL103del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EL133del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EL40del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EL403del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EL403del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EL403del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	403	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGTTCTGTGGTTGAATTAATAAACCA	0.335			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589222	TTGAAT	-	67589217	7	5	469	1	0	1	0	1	0	0	0	0	11995	1725	60	0	1369	0	PIK3R1	5	67589217	In_Frame_Del	DEL	TTGAAT	TCGA-FG-5962-01B-11D-1893-08	15186234	67589217	113326043	15	44270											
RHOBTB3	22836	broad.mit.edu	37	chr5	95119548	95119548	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatctgtgccgagatgtacCaagtgtccagactgcagcac	10	9	11	11	1	1	3	0	1	1	2	2	4	2	3	3	0	4	3	3	0	2	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:95119548C>T	ENST00000379982.3	+	10	2012	c.1504C>T	c.(1504-1506)Caa>Taa	p.Q502*	RHOBTB3_ENST00000504179.1_Nonsense_Mutation_p.Q133*|GLRX_ENST00000507605.1_Intron|GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	502	Interaction with Rab9.				retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CGAGATGTACCAAGTGTCCAG	0.468													T	95119548	C	T	95119548	4	4	469	1	0	0	0	0	0	1	0	0	13424	595	21	2	1542	2	RHOBTB3	5	95119548	Nonsense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	27530331	95119548	85795712	16	44271											
TCOF1	6949	broad.mit.edu	37	chr5	149755650	149755650	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtgtcccctcaggcaaaAccagctctgaaaattcctca	11	10	7	13	0	3	1	2	1	1	0	5	1	5	1	4	2	2	2	4	2	4	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:149755650A>G	ENST00000451292.1	+	13	2007	c.1899A>G	c.(1897-1899)aaA>aaG	p.K633K	TCOF1_ENST00000504761.2_Silent_p.K633K|TCOF1_ENST00000377797.3_Silent_p.K633K|TCOF1_ENST00000439160.2_Silent_p.K633K|TCOF1_ENST00000394269.3_Silent_p.K633K|TCOF1_ENST00000445265.2_Silent_p.K556K|TCOF1_ENST00000513346.1_Silent_p.K633K|TCOF1_ENST00000323668.7_Silent_p.K556K			Q13428	TCOF_HUMAN	Treacher Collins-Franceschetti syndrome 1	633					skeletal system development	nucleolus	protein binding|transporter activity			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	35		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CTCAGGCAAAACCAGCTCTGA	0.572													G	149755650	A	G	149755650	2	3	469	1	0	0	0	0	0	0	0	1	15808	40	2	3		3	TCOF1	5	149755650	Silent	SNP	A	TCGA-FG-5962-01B-11D-1893-08	54636102	149755650	31159610	17	44272											
MED7	9443	broad.mit.edu	37	chr5	156566369	156566369	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctaagccttcttgaataTtttcatccgtatattccttg	9	17	6	9	1	2	1	1	1	1	0	4	2	4	1	3	0	2	2	3	0	5	10			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:156566369T>C	ENST00000286317.5	-	2	455	c.74A>G	c.(73-75)aAt>aGt	p.N25S	MED7_ENST00000420343.1_Missense_Mutation_p.N25S	NM_004270.4	NP_004261.1	O43513	MED7_HUMAN	mediator complex subunit 7	25					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex|transcription factor complex	protein binding|transcription coactivator activity			kidney(1)|large_intestine(1)|lung(3)|urinary_tract(2)	7	Renal(175;0.00212)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TTCTTGAATATTTTCATCCGT	0.438													C	156566369	T	C	156566369	3	2	469	1	0	0	0	0	1	0	0	0	9527	1493	52	3	631	3	MED7	5	156566369	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	6810719	156566369	24348891	18	44273											
BNIP1	662	broad.mit.edu	37	chr5	172578699	172578699	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacctgttaccttcagtgTgagtatttgtatgttctttt	7	20	7	7	0	2	1	1	1	1	0	2	1	2	1	2	0	2	4	2	0	4	9			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr5:172578699T>C	ENST00000231668.9	+	3	410		c.e3+2		BNIP1_ENST00000351486.5_Intron|BNIP1_ENST00000352523.6_Splice_Site|BNIP1_ENST00000393770.4_Intron	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1						anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTTCAGTGTGAGTATTTGT	0.368													C	172578699	T	C	172578699	5	2	469	1	0	0	0	0	0	0	1	0	1482	1710	59	3	318	3	BNIP1	5	172578699	Splice_Site	SNP	T	TCGA-FG-5962-01B-11D-1893-08	16012330	172578699	8336561	19	44274											
MDN1	23195	broad.mit.edu	37	chr6	90428622	90428622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctggcccgaccaggatgAccatccagctcatctgcaca	10	6	10	15	1	2	1	1	1	1	0	3	3	3	2	4	3	2	3	4	3	0	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr6:90428622A>G	ENST00000369393.3	-	42	6300	c.6185T>C	c.(6184-6186)gTc>gCc	p.V2062A	MDN1_ENST00000428876.1_Missense_Mutation_p.V2062A			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	2062					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GACCAGGATGACCATCCAGCT	0.562													G	90428622	A	G	90428622	3	3	469	1	0	0	0	0	1	0	0	0	9490	275	10	3	10849	3	MDN1	6	90428622	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		90428622	80686445	20	44275											
ANKRD46	157567	broad.mit.edu	37	chr8	101534835	101534835	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agggtagcaccccactcacaTaataagcaatgccaagagac	16	5	8	12	0	1	1	1	0	0	1	1	2	1	1	3	1	3	3	3	1	5	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:101534835T>A	ENST00000520311.1	-	5	1438	c.635A>T	c.(634-636)tAt>tTt	p.Y212F	ANKRD46_ENST00000519316.1_Missense_Mutation_p.Y159F|ANKRD46_ENST00000335659.3_Missense_Mutation_p.Y212F|ANKRD46_ENST00000519597.1_Missense_Mutation_p.Y212F|ANKRD46_ENST00000520552.1_Splice_Site_p.Y212F	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	212						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			CCCACTCACATAATAAGCAAT	0.488													A	101534835	T	A	101534835	3	1	469	1	0	0	0	0	1	0	0	0	674	1406	49	5	55	5	ANKRD46	8	101534835	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		101534835	44829187	21	44276											
RAD21	5885	broad.mit.edu	37	chr8	117869555	117869555	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattatcatccttatattgAtcttcatattctaaatggtt	13	19	3	6	0	4	1	2	1	2	0	5	1	5	1	1	1	0	1	1	1	7	9			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr8:117869555A>C	ENST00000297338.2	-	6	926	c.639T>G	c.(637-639)gaT>gaG	p.D213E	RAD21_ENST00000523547.1_5'UTR	NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	213					apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					CCTTATATTGATCTTCATATT	0.333													C	117869555	A	C	117869555	3	2	469	1	0	0	0	0	1	0	0	0	13069	330	12	5	1292	5	RAD21	8	117869555	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	16334720	117869555	28494467	22	44277											
ZNF618	114991	broad.mit.edu	37	chr9	116812025	116812025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggacccgcagcagaagctgCggcctgtgccaccctaccag	8	5	12	16	2	0	1	0	0	0	1	0	2	0	2	5	2	5	3	5	2	2	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:116812025C>T	ENST00000288466.7	+	14	2263	c.2164C>T	c.(2164-2166)Cgg>Tgg	p.R722W	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.R815W	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	815					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GCAGAAGCTGCGGCCTGTGCC	0.627													T	116812025	C	T	116812025	3	4	469	1	0	0	0	0	1	0	0	0	18143	759	27	1	2218	1	ZNF618	9	116812025	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		116812025	24401406	23	44278											
NOTCH1	4851	broad.mit.edu	37	chr9	139412675	139412675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccttgccattgacagggTtggtgtcgcagttggagccc	5	11	15	10	1	0	1	0	1	0	0	1	2	0	2	3	4	2	3	3	4	0	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr9:139412675T>C	ENST00000277541.6	-	7	1244	c.1169A>G	c.(1168-1170)aAc>aGc	p.N390S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	390	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N390S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATTGACAGGGTTGGTGTCGCA	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			C	139412675	T	C	139412675	3	2	469	1	0	0	0	0	1	0	0	0	10623	1725	60	3	6610	3	NOTCH1	9	139412675	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	22600650	139412675	1800756	24	44279											
MUC2	4583	broad.mit.edu	37	chr11	1075719	1075719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttccactacaagaccttcGacggggacgtcttccgcttc	8	10	8	15	4	1	1	0	0	1	1	5	3	3	2	3	2	1	1	3	2	2	5			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:1075719G>A	ENST00000441003.2	+	2	172	c.145G>A	c.(145-147)Gac>Aac	p.D49N	MUC2_ENST00000359061.5_Missense_Mutation_p.D49N	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	49	VWFD 1.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CAAGACCTTCGACGGGGACGT	0.622													A	1075719	G	A	1075719	3	1	469	1	0	0	0	0	1	0	0	0	10051	1058	37	1	151	1	MUC2	11	1075719	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		1075719	133930797	25	44280											
OR5AS1	219447	broad.mit.edu	37	chr11	55798086	55798086	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccatgtattattttcttagCaacttatctttcttagacat	10	19	3	9	0	3	1	0	0	3	1	3	1	3	1	1	0	2	2	1	0	6	8			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:55798086C>G	ENST00000313555.1	+	1	192	c.192C>G	c.(190-192)agC>agG	p.S64R		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					ATTTTCTTAGCAACTTATCTT	0.348													G	55798086	C	G	55798086	3	3	469	1	0	0	0	0	1	0	0	0	11222	709	25	4	194	4	OR5AS1	11	55798086	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	54722367	55798086	79208430	26	44281											
OR1S2	219958	broad.mit.edu	37	chr11	57970708	57970708	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatttttctattgatgagctTtctcagggcacctttcatat	9	18	6	8	0	3	2	2	2	2	0	4	2	3	2	1	1	1	2	1	1	3	7			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:57970708T>C	ENST00000302592.6	-	1	945	c.946A>G	c.(946-948)Aag>Gag	p.K316E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	316					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				TTGATGAGCTTTCTCAGGGCA	0.413													C	57970708	T	C	57970708	3	2	469	1	0	0	0	0	1	0	0	0	11049	1850	64	3	34	3	OR1S2	11	57970708	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	2172622	57970708	77035808	27	44282											
PDGFD	80310	broad.mit.edu	37	chr11	103870852	103870852	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtatccgtgtattctcctGagagtgaagccgccatgtca	8	12	10	11	2	2	2	1	2	1	1	4	3	3	2	4	0	1	2	4	0	3	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:103870852G>A	ENST00000302251.5	-	2	689	c.238C>T	c.(238-240)Cag>Tag	p.Q80*	PDGFD_ENST00000393158.2_Nonsense_Mutation_p.Q86*	NM_025208.4|NM_033135.3	NP_079484.1|NP_149126.1	Q9GZP0	PDGFD_HUMAN	platelet derived growth factor D	86	CUB.				positive regulation of cell division	endoplasmic reticulum lumen|extracellular region|Golgi membrane	growth factor activity			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|prostate(3)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Melanoma(852;0.0563)|all_neural(303;0.165)		BRCA - Breast invasive adenocarcinoma(274;0.00136)|Epithelial(105;0.111)		GTATTCTCCTGAGAGTGAAGC	0.458													A	103870852	G	A	103870852	4	1	469	1	0	0	0	0	0	1	0	0	11736	1299	45	2	880	2	PDGFD	11	103870852	Nonsense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	45900144	103870852	31135664	28	44283											
RDX	5962	broad.mit.edu	37	chr11	110134885	110134885	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgaattaattcctcagaAacatcttcaggaaagaattt	15	14	5	7	0	4	3	2	1	2	2	5	4	5	4	1	1	1	0	1	1	5	5			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:110134885A>C	ENST00000343115.4	-	5	586	c.267T>G	c.(265-267)gtT>gtG	p.V89V	RDX_ENST00000405097.1_Silent_p.V89V|RDX_ENST00000528900.1_Intron|RDX_ENST00000528498.1_Silent_p.V89V|RDX_ENST00000544551.1_Intron|RDX_ENST00000530301.1_Silent_p.V57V	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	89	FERM.				actin filament capping	cleavage furrow|cytoskeleton|extrinsic to membrane|Golgi apparatus|nucleolus|plasma membrane	actin binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		ATTCCTCAGAAACATCTTCAG	0.343													C	110134885	A	C	110134885	2	2	469	1	0	0	0	0	0	0	0	1	13286	1	1	5		5	RDX	11	110134885	Silent	SNP	A	TCGA-FG-5962-01B-11D-1893-08	6264033	110134885	24871631	29	44284											
SIK2	23235	broad.mit.edu	37	chr11	111487048	111487048	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagaagtacaaataatgaaaAtgttagaccaccctcacata	19	8	6	8	0	1	3	1	1	0	2	1	4	1	3	2	0	1	2	2	0	8	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr11:111487048A>C	ENST00000304987.3	+	2	390	c.217A>C	c.(217-219)Atg>Ctg	p.M73L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	73	Protein kinase.				intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						AATAATGAAAATGTTAGACCA	0.373													C	111487048	A	C	111487048	3	2	469	1	0	0	0	0	1	0	0	0	14412	101	4	5	223	5	SIK2	11	111487048	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08	1352163	111487048	23519468	30	44285											
CSRNP2	81566	broad.mit.edu	37	chr12	51470329	51470329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcctcttgagacccgagcCcgtgaatgcatccattggtt	7	12	9	13	2	1	2	0	2	1	1	3	4	3	2	4	1	2	2	4	1	1	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:51470329C>T	ENST00000228515.1	-	2	313	c.16G>A	c.(16-18)Ggc>Agc	p.G6S		NM_030809.2	NP_110436.1	Q9H175	CSRN2_HUMAN	cysteine-serine-rich nuclear protein 2	6					apoptosis|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	14						AGACCCGAGCCCGTGAATGCA	0.522													T	51470329	C	T	51470329	3	4	469	1	0	0	0	0	1	0	0	0	3997	623	22	2	1631	2	CSRNP2	12	51470329	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		51470329	82381566	31	44286											
TMEM120B	144404	broad.mit.edu	37	chr12	122190038	122190038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctgtcgtggcaggttcGcctacaaggacgaatatgag	9	10	14	8	3	1	1	0	1	1	0	3	3	1	2	1	3	1	2	1	3	4	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr12:122190038G>A	ENST00000449592.2	+	5	471	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	TMEM120B_ENST00000540377.1_5'UTR	NM_001080825.2	NP_001074294.2	A0PK00	T120B_HUMAN	transmembrane protein 120B	124						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(6)	11	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;5.75e-05)|Epithelial(86;0.000128)|BRCA - Breast invasive adenocarcinoma(302;0.238)		TGGCAGGTTCGCCTACAAGGA	0.567													A	122190038	G	A	122190038	3	1	469	1	0	0	0	0	1	0	0	0	16134	1087	38	1	388	1	TMEM120B	12	122190038	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	70719709	122190038	11661857	32	44287											
ZMYM2	7750	broad.mit.edu	37	chr13	20638648	20638648	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacctgtttttggcgaagAatatgaggaacagcccagac	13	8	10	10	1	0	3	0	1	0	2	0	5	0	4	3	2	2	1	3	2	4	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr13:20638648A>G	ENST00000382869.3	+	19	3346	c.3095A>G	c.(3094-3096)gAa>gGa	p.E1032G	ZMYM2_ENST00000382871.2_Missense_Mutation_p.E1032G|ZMYM2_ENST00000382874.2_Missense_Mutation_p.E1032G	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1032					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TTTGGCGAAGAATATGAGGAA	0.343													G	20638648	A	G	20638648	3	3	469	1	0	0	0	0	1	0	0	0	17801	246	9	3	3161	3	ZMYM2	13	20638648	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		20638648	94531230	33	44288											
HERC2	8924	broad.mit.edu	37	chr15	28389059	28389059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattttctccaagcagcctaTttatgttaattgactgccca	10	15	5	11	0	1	1	0	1	1	0	2	1	1	1	3	0	3	2	3	0	4	7			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28389059T>C	ENST00000261609.7	-	74	11486	c.11378A>G	c.(11377-11379)aAt>aGt	p.N3793S		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	3793					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		AAGCAGCCTATTTATGTTAAT	0.423													C	28389059	T	C	28389059	3	2	469	1	0	0	0	0	1	0	0	0	7113	1493	52	3	3206	3	HERC2	15	28389059	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08		28389059	74142333	34	44289											
HERC2	8924	broad.mit.edu	37	chr15	28460828	28460828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgaccttcatgagcagcGtgatccactgcggggagctg	8	7	13	13	3	1	2	1	2	0	0	2	4	2	3	3	2	4	2	3	2	0	1	rs140060040	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:28460828G>A	ENST00000261609.7	-	39	6257	c.6149C>T	c.(6148-6150)aCg>aTg	p.T2050M		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2050					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CATGAGCAGCGTGATCCACTG	0.632													A	28460828	G	A	28460828	3	1	469	1	0	0	0	0	1	0	0	0	7113	1145	40	1	8575	1	HERC2	15	28460828	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	71769	28460828	74070564	35	44290											
VPS13C	54832	broad.mit.edu	37	chr15	62201315	62201315	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtttacatccaccaagaTacccccattctattgtagaa	13	12	5	11	0	1	2	0	0	1	2	2	2	2	2	4	0	2	2	4	0	6	7			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:62201315T>C	ENST00000261517.5	-	65	8927	c.8854A>G	c.(8854-8856)Atc>Gtc	p.I2952V	VPS13C_ENST00000395898.3_Missense_Mutation_p.I2909V|VPS13C_ENST00000395896.4_Missense_Mutation_p.I2952V|VPS13C_ENST00000249837.3_Missense_Mutation_p.I2909V	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	2952					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						TCCACCAAGATACCCCCATTC	0.348													C	62201315	T	C	62201315	3	2	469	1	0	0	0	0	1	0	0	0	17293	1406	49	3	2519	3	VPS13C	15	62201315	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	33740487	62201315	40330077	36	44291											
HERC1	8925	broad.mit.edu	37	chr15	63901366	63901366	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagcggcagttgttgaTggcatagcgcaggcgctcgg	7	9	17	8	4	0	2	0	2	0	0	1	3	0	2	0	4	2	6	0	4	1	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr15:63901366T>C	ENST00000443617.2	-	78	14587	c.14500A>G	c.(14500-14502)Atc>Gtc	p.I4834V		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	4834	HECT.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CAGTTGTTGATGGCATAGCGC	0.602													C	63901366	T	C	63901366	3	2	469	1	0	0	0	0	1	0	0	0	7112	1464	51	3	89	3	HERC1	15	63901366	Missense_Mutation	SNP	T	TCGA-FG-5962-01B-11D-1893-08	1700051	63901366	38630026	37	44292											
ANKS4B	257629	broad.mit.edu	37	chr16	21261086	21261086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgacatctggggaaacActcctctacattttgcagcc	9	11	10	11	0	2	1	0	1	2	0	3	2	3	2	2	3	4	1	2	3	2	3			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:21261086A>G	ENST00000311620.5	+	2	272	c.199A>G	c.(199-201)Act>Gct	p.T67A		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	67										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CTGGGGAAACACTCCTCTACA	0.463													G	21261086	A	G	21261086	3	3	469	1	0	0	0	0	1	0	0	0	691	159	6	3	205	3	ANKS4B	16	21261086	Missense_Mutation	SNP	A	TCGA-FG-5962-01B-11D-1893-08		21261086	69093667	38	44293											
BCKDK	10295	broad.mit.edu	37	chr16	31121057	31121057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccgcatcaagggcttcCgctgccttcctttcatcatt	6	13	6	16	2	4	0	4	0	0	0	6	0	6	0	4	1	1	3	4	1	1	4			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr16:31121057C>T	ENST00000394951.1	+	5	951	c.328C>T	c.(328-330)Cgc>Tgc	p.R110C	BCKDK_ENST00000219794.6_Missense_Mutation_p.R110C|BCKDK_ENST00000394950.3_Missense_Mutation_p.R110C|BCKDK_ENST00000287507.3_Missense_Mutation_p.R110C			O14874	BCKD_HUMAN	branched chain ketoacid dehydrogenase kinase	110					branched chain family amino acid catabolic process|peptidyl-histidine phosphorylation	mitochondrial alpha-ketoglutarate dehydrogenase complex	[3-methyl-2-oxobutanoate dehydrogenase (acetyl-transferring)] kinase activity|ATP binding|protein binding|protein serine/threonine kinase activity|two-component sensor activity			breast(1)|stomach(1)	2						CAAGGGCTTCCGCTGCCTTCC	0.587													T	31121057	C	T	31121057	3	4	469	1	0	0	0	0	1	0	0	0	1366	652	23	1	338	1	BCKDK	16	31121057	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	9859971	31121057	59233696	39	44294											
COL1A1	1277	broad.mit.edu	37	chr17	48264128	48264128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgagggtggtgtccacctcGaggtcacggtcacgaaccac	8	8	13	12	3	2	1	2	1	0	0	4	3	3	1	3	4	1	0	3	4	1	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:48264128G>A	ENST00000225964.5	-	48	3805	c.3687C>T	c.(3685-3687)ctC>ctT	p.L1229L		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1229	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	TGTCCACCTCGAGGTCACGGT	0.627			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						A	48264128	G	A	48264128	2	1	469	1	0	0	0	0	0	0	0	1	3708	1045	37	1		1	COL1A1	17	48264128	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08		48264128	32931082	40	44295											
TMEM104	54868	broad.mit.edu	37	chr17	72832630	72832630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggggcctacgcgggcaccgGcatccagtacgtcatccccg	7	5	13	16	5	1	0	1	0	0	0	3	0	3	0	5	4	2	3	5	4	2	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr17:72832630G>A	ENST00000335464.5	+	10	1457	c.1295G>A	c.(1294-1296)gGc>gAc	p.G432D	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G432D|TMEM104_ENST00000417024.2_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	432						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GCGGGCACCGGCATCCAGTAC	0.652													A	72832630	G	A	72832630	3	1	469	1	0	0	0	0	1	0	0	0	16118	1203	42	2	1329	2	TMEM104	17	72832630	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	24568502	72832630	8362580	41	44296											
LAMA1	284217	broad.mit.edu	37	chr18	7036073	7036073	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtgtatttcaggaatccGccaaacgcagtcagctgaaa	13	8	9	11	3	2	1	2	1	0	0	3	2	3	2	3	1	2	3	3	1	4	2	rs138401018	byFrequency	TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr18:7036073G>A	ENST00000389658.3	-	13	1845	c.1752C>T	c.(1750-1752)ggC>ggT	p.G584G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	584	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGAATCCGCCAAACGCAG	0.453													A	7036073	G	A	7036073	2	1	469	1	0	0	0	0	0	0	0	1	8664	1074	38	1		1	LAMA1	18	7036073	Silent	SNP	G	TCGA-FG-5962-01B-11D-1893-08		7036073	71041175	42	44297											
FSD1	79187	broad.mit.edu	37	chr19	4311913	4311913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaccctggtgtggcgcatgCcggatgaggacagcaagatt	9	8	15	9	2	0	3	0	2	0	1	0	5	0	5	2	4	2	2	2	4	1	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:4311913C>T	ENST00000221856.6	+	7	712	c.565C>T	c.(565-567)Ccg>Tcg	p.P189S	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.P189S	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	189	Fibronectin type-III.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGCGCATGCCGGATGAGGA	0.632													T	4311913	C	T	4311913	3	4	469	1	0	0	0	0	1	0	0	0	6122	739	26	2	591	2	FSD1	19	4311913	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		4311913	54817070	43	44298											
CLEC4M	10332	broad.mit.edu	37	chr19	7833752	7833752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtactggaacagtggagaaCccaacaatagcgggaatgaa	16	5	13	7	1	0	2	0	1	0	1	0	5	0	4	1	4	5	1	1	4	8	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:7833752C>T	ENST00000327325.5	+	7	1196	c.1078C>T	c.(1078-1080)Ccc>Tcc	p.P360S	CLEC4M_ENST00000357361.2_Missense_Mutation_p.T322I|CLEC4M_ENST00000597522.1_Missense_Mutation_p.T230I|CLEC4M_ENST00000334806.5_Missense_Mutation_p.P309S|CLEC4M_ENST00000596363.1_Missense_Mutation_p.T294I|CLEC4M_ENST00000248228.4_Missense_Mutation_p.P338S|CLEC4M_ENST00000359059.5_Missense_Mutation_p.P293S|CLEC4M_ENST00000394122.2_Missense_Mutation_p.P348S|CLEC4M_ENST00000595496.1_Missense_Mutation_p.P224S|CLEC4M_ENST00000596707.1_Missense_Mutation_p.P293S	NM_001144909.1|NM_014257.4	NP_001138381.1|NP_055072.3	Q9H2X3	CLC4M_HUMAN	C-type lectin domain family 4, member M	360	C-type lectin.				cell-cell recognition|endocytosis|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to plasma membrane	ICAM-3 receptor activity|mannose binding|metal ion binding|peptide antigen binding|virion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|pancreas(1)|prostate(1)|skin(1)	26						CAGTGGAGAACCCAACAATAG	0.512													T	7833752	C	T	7833752	3	4	469	1	0	0	0	0	1	0	0	0	3549	507	18	2	1125	2	CLEC4M	19	7833752	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	3521839	7833752	51295231	44	44299											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000575354.2_Missense_Mutation_p.R1515C|CIC_ENST00000160740.3_Missense_Mutation_p.R1513C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								T	42799059	C	T	42799059	3	4	469	1	0	0	0	0	1	0	0	0	3454	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08	34965307	42799059	16329924	45	44300											
XRN2	22803	broad.mit.edu	37	chr20	21336757	21336757	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtgatgtcttatttgtggGgaaacatcacccactccatg	10	12	10	9	0	2	1	1	1	1	0	3	2	3	2	2	3	1	0	2	3	2	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr20:21336757G>A	ENST00000377191.3	+	22	2155	c.2060G>A	c.(2059-2061)gGg>gAg	p.G687E	XRN2_ENST00000539513.1_Missense_Mutation_p.G633E|XRN2_ENST00000430571.2_Missense_Mutation_p.G611E	NM_012255.3	NP_036387.2	Q9H0D6	XRN2_HUMAN	5'-3' exoribonuclease 2	687					cell growth|DNA catabolic process, exonucleolytic|mRNA processing|regulation of transcription, DNA-dependent|RNA catabolic process|spermatogenesis|transcription termination, DNA-dependent	nucleolus	5'-3' exoribonuclease activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(5)|kidney(6)|large_intestine(10)|lung(12)|ovary(1)|skin(5)	39						TTATTTGTGGGGAAACATCAC	0.383													A	21336757	G	A	21336757	3	1	469	1	0	0	0	0	1	0	0	0	17562	1232	43	2	2146	2	XRN2	20	21336757	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		21336757	41688763	46	44301											
GTSE1	51512	broad.mit.edu	37	chr22	46704680	46704680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggcccgcctcacccGggcgccggggcctccgcact	3	4	13	21	5	1	0	1	0	0	0	2	0	2	0	7	4	1	1	7	4	0	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chr22:46704680G>A	ENST00000454366.1	+	4	814	c.602G>A	c.(601-603)cGg>cAg	p.R201Q		NM_016426.6	NP_057510	Q9NYZ3	GTSE1_HUMAN	G-2 and S-phase expressed 1	182					DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G2 phase of mitotic cell cycle|microtubule-based process	cytoplasmic microtubule		p.R182H(1)		NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	27		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00462)		CGCCTCACCCGGGCGCCGGGG	0.687													A	46704680	G	A	46704680	3	1	469	1	0	0	0	0	1	0	0	0	6940	1116	39	1	612	1	GTSE1	22	46704680	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08		46704680	4599886	47	44302											
COL4A6	1288	broad.mit.edu	37	chrX	107402954	107402954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagggcatggtgctgaagCggggcagacaggagccagca	11	4	18	8	1	0	3	0	2	0	1	0	4	0	4	1	5	4	4	1	5	2	0			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:107402954C>T	ENST00000334504.7	-	44	4783	c.4550G>A	c.(4549-4551)cGc>cAc	p.R1517H	COL4A6_ENST00000372216.4_Missense_Mutation_p.R1518H|COL4A6_ENST00000545689.1_Missense_Mutation_p.R1493H|COL4A6_ENST00000538570.1_Missense_Mutation_p.R1460H|COL4A6_ENST00000418180.1_Missense_Mutation_p.R52H|COL4A6_ENST00000394872.2_Missense_Mutation_p.R1518H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1518	Collagen IV NC1.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						GGTGCTGAAGCGGGGCAGACA	0.562									Alport syndrome with Diffuse Leiomyomatosis				T	107402954	C	T	107402954	3	4	469	1	0	0	0	0	1	0	0	0	3726	768	27	1	530	1	COL4A6	23	107402954	Missense_Mutation	SNP	C	TCGA-FG-5962-01B-11D-1893-08		107402954	47867606	48	44303											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	10	9	12	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-FG-5962-01B-11D-1893-08	TCGA-FG-5962-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28e93aff-9ec4-4fcf-a469-74d8b6190991	57a1f9a5-e7cd-478d-b678-8e1992d9b223	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													A	117959418	G	A	117959418	3	1	469	1	0	0	0	0	1	0	0	0	17682	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-FG-5962-01B-11D-1893-08	10556464	117959418	37311142	49	44304											
WDR47	22911	broad.mit.edu	37	chr1	109544855	109544855	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaccaacctattaaggAactgttcagtaagattctgc	15	10	8	8	0	2	3	1	0	1	3	2	4	2	4	2	1	3	2	2	1	6	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:109544855A>G	ENST00000357672.3	-	6	1715	c.1340T>C	c.(1339-1341)tTc>tCc	p.F447S	WDR47_ENST00000369965.4_Missense_Mutation_p.F476S|WDR47_ENST00000400794.3_Missense_Mutation_p.F483S|WDR47_ENST00000361054.3_Missense_Mutation_p.F447S|WDR47_ENST00000369962.3_Missense_Mutation_p.F475S			O94967	WDR47_HUMAN	WD repeat domain 47	475	Gln-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	20		all_lung(203;0.00519)|all_epithelial(167;0.00611)|Lung NSC(277;0.00822)		Colorectal(144;0.0165)|Lung(183;0.0484)|COAD - Colon adenocarcinoma(174;0.128)|Epithelial(280;0.168)|all cancers(265;0.201)|LUSC - Lung squamous cell carcinoma(189;0.244)		CCTATTAAGGAACTGTTCAGT	0.383													G	109544855	A	G	109544855	3	3	470	1	0	0	0	0	1	0	0	0	17402	246	9	3	1371	3	WDR47	1	109544855	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		109544855	139705766	1	44305											
PM20D1	148811	broad.mit.edu	37	chr1	205814452	205814452	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agggaacattgcatctcagaCcatcacagagttcttgtcgt	11	11	9	10	1	3	2	2	0	2	2	5	3	3	3	1	1	2	2	1	1	1	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr1:205814452C>G	ENST00000367136.4	-	3	534		c.e3+1		PM20D1_ENST00000460624.1_Splice_Site	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1							extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GCATCTCAGACCATCACAGAG	0.547													G	205814452	C	G	205814452	5	3	470	1	0	0	0	0	0	0	1	0	12205	521	18	4	1062	4	PM20D1	1	205814452	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08	96269597	205814452	43436169	2	44306											
KIDINS220	57498	broad.mit.edu	37	chr2	8958894	8958894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttccagattgccttgttcGgcagctatcatcagtggagt	8	14	10	9	1	2	1	2	0	0	1	4	2	3	2	2	2	2	3	2	2	1	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:8958894G>A	ENST00000256707.3	-	3	319	c.138C>T	c.(136-138)gcC>gcT	p.A46A	KIDINS220_ENST00000319688.5_Silent_p.A46A|KIDINS220_ENST00000427284.1_Silent_p.A46A|KIDINS220_ENST00000473731.1_Silent_p.A46A|KIDINS220_ENST00000418530.1_Silent_p.A4A	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	46					activation of MAPKK activity|nerve growth factor receptor signaling pathway	cytosol|integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TGCCTTGTTCGGCAGCTATCA	0.328													A	8958894	G	A	8958894	2	1	470	1	0	0	0	0	0	0	0	1	8329	1103	39	1		1	KIDINS220	2	8958894	Silent	SNP	G	TCGA-FG-5963-01A-11D-1705-08		8958894	234240479	3	44307											
MAP4K4	9448	broad.mit.edu	37	chr2	102503626	102503626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaggttgaaagtgatctAtggatcctgtgctggattcc	9	12	12	8	0	1	3	0	2	1	1	3	5	3	5	3	3	1	2	3	3	2	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:102503626A>G	ENST00000413150.2	+	26	3063	c.3008A>G	c.(3007-3009)tAt>tGt	p.Y1003C	MAP4K4_ENST00000425019.1_Missense_Mutation_p.Y1121C|MAP4K4_ENST00000456652.1_Missense_Mutation_p.Y887C|MAP4K4_ENST00000350198.4_Missense_Mutation_p.Y1007C|MAP4K4_ENST00000324219.4_Missense_Mutation_p.Y1169C|MAP4K4_ENST00000347699.4_Missense_Mutation_p.Y1088C|MAP4K4_ENST00000350878.4_Missense_Mutation_p.Y1128C|MAP4K4_ENST00000302217.5_Missense_Mutation_p.Y891C	NM_001242560.1|NM_004834.4	NP_001229489.1|NP_004825.3	O95819	M4K4_HUMAN	mitogen-activated protein kinase kinase kinase kinase 4	1088	CNH.|Mediates interaction with RAP2A.				intracellular protein kinase cascade|regulation of JNK cascade|response to stress	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(15)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						AAAGTGATCTATGGATCCTGT	0.423													G	102503626	A	G	102503626	3	3	470	1	0	0	0	0	1	0	0	0	9337	449	16	3	3620	3	MAP4K4	2	102503626	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08	93544732	102503626	140695747	4	44308											
USP37	57695	broad.mit.edu	37	chr2	219418446	219418446	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catttttaatgttatgacttAgctaatcaagacaaaaggaa	17	13	6	5	0	1	2	1	1	0	1	1	3	1	3	0	1	1	2	0	1	8	6			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr2:219418446A>G	ENST00000258399.3	-	5	570	c.158T>C	c.(157-159)cTa>cCa	p.L53P	USP37_ENST00000418019.1_Splice_Site_p.L53P|USP37_ENST00000454775.1_Splice_Site_p.L53P|USP37_ENST00000415516.1_5'UTR|USP37_ENST00000338465.5_Splice_Site_p.L53P	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	53					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		GTTATGACTTAGCTAATCAAG	0.318													G	219418446	A	G	219418446	5	3	470	1	0	0	0	0	0	0	1	0	17170	434	15	3	2869	3	USP37	2	219418446	Splice_Site	SNP	A	TCGA-FG-5963-01A-11D-1705-08	116914820	219418446	23780927	5	44309											
CCDC66	285331	broad.mit.edu	37	chr3	56627603	56627603	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcagctgttctctcagtcaAcacacaaacaacctgagtac	13	9	5	14	0	4	1	3	1	1	0	5	1	4	1	1	0	5	3	1	0	4	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:56627603A>G	ENST00000394672.3	+	9	1223	c.1153A>G	c.(1153-1155)Aca>Gca	p.T385A	CCDC66_ENST00000436465.2_Missense_Mutation_p.T385A|CCDC66_ENST00000326595.7_Missense_Mutation_p.T351A	NM_001012506.4|NM_001141947.1	NP_001012524.4|NP_001135419.1	A2RUB6	CCD66_HUMAN	coiled-coil domain containing 66	385										breast(1)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(284;0.0478)|Kidney(284;0.0597)|OV - Ovarian serous cystadenocarcinoma(275;0.233)		CTCTCAGTCAACACACAAACA	0.453													G	56627603	A	G	56627603	3	3	470	1	0	0	0	0	1	0	0	0	2866	43	2	3	1187	3	CCDC66	3	56627603	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		56627603	141394827	6	44310											
MYLK	4638	broad.mit.edu	37	chr3	123444812	123444812	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcagcagccaagtgatccGgggcactggggtcccccgta	8	7	13	13	2	1	1	1	1	0	0	3	1	3	1	4	4	2	3	4	4	2	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:123444812G>A	ENST00000360772.3	-	13	2008	c.1630C>T	c.(1630-1632)Cgg>Tgg	p.R544W	MYLK_ENST00000475616.1_Missense_Mutation_p.R544W|MYLK_ENST00000359169.1_Missense_Mutation_p.R544W|MYLK_ENST00000360304.3_Missense_Mutation_p.R544W|MYLK_ENST00000346322.5_Missense_Mutation_p.R475W			Q15746	MYLK_HUMAN	myosin light chain kinase	544	Ig-like C2-type 4.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CAAGTGATCCGGGGCACTGGG	0.617													A	123444812	G	A	123444812	3	1	470	1	0	0	0	0	1	0	0	0	10132	1115	39	1	4206	1	MYLK	3	123444812	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	66817209	123444812	74577618	7	44311											
UMPS	7372	broad.mit.edu	37	chr3	124449455	124449455	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggggcatcgtgtctcGaccgcgtcttctgagtcagg	4	11	14	12	5	5	1	1	1	4	0	7	2	5	1	1	3	1	1	1	3	0	1			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr3:124449455G>T	ENST00000232607.2	+	1	243	c.137G>T	c.(136-138)cGa>cTa	p.R46L	UMPS_ENST00000413078.2_5'UTR|UMPS_ENST00000536109.1_5'UTR|UMPS_ENST00000538242.1_5'UTR	NM_000373.3	NP_000364.1	P11172	UMPS_HUMAN	uridine monophosphate synthetase	46	OPRTase.				'de novo' pyrimidine base biosynthetic process|'de novo' UMP biosynthetic process|pyrimidine nucleoside biosynthetic process	cytosol|nucleus	orotate phosphoribosyltransferase activity|orotidine-5'-phosphate decarboxylase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(114;0.146)		ATCGTGTCTCGACCGCGTCTT	0.587													T	124449455	G	T	124449455	3	4	470	1	0	0	0	0	1	0	0	0	17083	1058	37	4	139	4	UMPS	3	124449455	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	1004643	124449455	73572975	8	44312											
RAI14	26064	broad.mit.edu	37	chr5	34811934	34811934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtggaagccttaattaaaaAgggtgcagacctaaaccttg	14	10	10	7	0	0	1	0	0	0	1	0	2	0	2	3	2	3	1	3	2	7	4			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr5:34811934A>G	ENST00000265109.3	+	9	907	c.620A>G	c.(619-621)aAg>aGg	p.K207R	RAI14_ENST00000515799.1_Missense_Mutation_p.K210R|RAI14_ENST00000397449.1_Missense_Mutation_p.K200R|RAI14_ENST00000428746.2_Missense_Mutation_p.K207R|RAI14_ENST00000512629.1_Missense_Mutation_p.K207R|RAI14_ENST00000506376.1_Missense_Mutation_p.K199R|RAI14_ENST00000503673.1_Missense_Mutation_p.K207R	NM_001145522.1|NM_015577.2	NP_001138994.1|NP_056392.2	Q9P0K7	RAI14_HUMAN	retinoic acid induced 14	207						cell cortex|cytoskeleton	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(19)|lung(22)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(31;0.000191)					TTAATTAAAAAGGGTGCAGAC	0.383													G	34811934	A	G	34811934	3	3	470	1	0	0	0	0	1	0	0	0	13096	72	3	3	715	3	RAI14	5	34811934	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08		34811934	146103326	9	44313											
RELN	5649	broad.mit.edu	37	chr7	103290796	103290796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggtgttccgggttagtgCtgcgttaggaaggggaattg	6	12	17	6	2	0	0	0	0	0	0	1	2	1	2	2	5	2	4	2	5	4	4			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr7:103290796C>T	ENST00000424685.2	-	16	2086	c.1927G>A	c.(1927-1929)Gca>Aca	p.A643T	RELN_ENST00000428762.1_Missense_Mutation_p.A643T|RELN_ENST00000343529.5_Missense_Mutation_p.A643T			P78509	RELN_HUMAN	reelin	643					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGGGTTAGTGCTGCGTTAGGA	0.403													T	103290796	C	T	103290796	3	4	470	1	0	0	0	0	1	0	0	0	13308	797	28	2	8655	2	RELN	7	103290796	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		103290796	55847867	10	44314											
COL22A1	169044	broad.mit.edu	37	chr8	139636001	139636001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagggggacccggctttcCatctctgccctctttgcctt	3	13	9	16	1	2	0	0	0	2	0	5	1	4	1	5	3	2	1	5	3	0	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr8:139636001C>T	ENST00000303045.6	-	52	4191	c.3745G>A	c.(3745-3747)Gga>Aga	p.G1249R	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Missense_Mutation_p.G1229R	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1249	Collagen-like 12.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CCCGGCTTTCCATCTCTGCCC	0.448										HNSCC(7;0.00092)			T	139636001	C	T	139636001	3	4	470	1	0	0	0	0	1	0	0	0	3712	603	21	2	1191	2	COL22A1	8	139636001	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		139636001	6728021	11	44315											
CCDC88B	283234	broad.mit.edu	37	chr11	64120928	64120928	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agctcctggagcgcagcctgGagagtcgggaccacctgcac	8	5	14	14	2	0	1	0	0	0	1	2	4	1	3	4	3	4	3	4	3	0	0			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr11:64120928G>C	ENST00000356786.5	+	22	3837	c.3793G>C	c.(3793-3795)Gag>Cag	p.E1265Q	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_Missense_Mutation_p.E417Q|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1265					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GCGCAGCCTGGAGAGTCGGGA	0.677													C	64120928	G	C	64120928	3	2	470	1	0	0	0	0	1	0	0	0	2892	1175	41	4	3879	4	CCDC88B	11	64120928	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		64120928	70885588	12	44316											
GUCY2C	2984	broad.mit.edu	37	chr12	14794127	14794127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgagagatgttggcttggcGgaggtgctctggagctgtcc	5	11	17	8	1	1	2	0	1	1	1	2	5	2	4	1	5	2	4	1	5	0	2	rs148314105		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:14794127G>A	ENST00000261170.3	-	18	2093	c.1957C>T	c.(1957-1959)Cgc>Tgc	p.R653C		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	653	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TTGGCTTGGCGGAGGTGCTCT	0.498													A	14794127	G	A	14794127	3	1	470	1	0	0	0	0	1	0	0	0	6951	1116	39	1	1304	1	GUCY2C	12	14794127	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		14794127	119057768	13	44317											
TUBA1B	10376	broad.mit.edu	37	chr12	49523049	49523049	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgaattcggtccaacacAaggtcaatgatctccttgcc	10	11	8	12	2	2	1	1	1	1	0	5	2	3	1	3	2	3	0	3	2	4	3	rs1057072		TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr12:49523049A>G	ENST00000336023.5	-	3	445	c.351T>C	c.(349-351)ctT>ctC	p.L117L	RP11-386G11.10_ENST00000547387.1_RNA	NM_006082.2	NP_006073.2	P68363	TBA1B_HUMAN	tubulin, alpha 1b	117					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(4)	12						GGTCCAACACAAGGTCAATGA	0.488													G	49523049	A	G	49523049	2	3	470	1	0	0	0	0	0	0	0	1	16846	117	5	3		3	TUBA1B	12	49523049	Silent	SNP	A	TCGA-FG-5963-01A-11D-1705-08	34728922	49523049	84328846	14	44318											
TXNDC16	57544	broad.mit.edu	37	chr14	52922041	52922041	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttattataaaacatactcaCaaacatttccagtagtgcat	16	13	3	9	0	1	0	1	0	0	0	2	0	2	0	1	0	4	2	1	0	7	6			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr14:52922041C>T	ENST00000281741.4	-	18	2214		c.e18+1		TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16						cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					AACATACTCACAAACATTTCC	0.358													T	52922041	C	T	52922041	5	4	470	1	0	0	0	0	0	0	1	0	16897	492	17	2	650	2	TXNDC16	14	52922041	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08		52922041	54427499	15	44319											
CAPN3	825	broad.mit.edu	37	chr15	42676717	42676717	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatttatcattgatggaGccaacagaactgacatctgt	12	11	8	10	1	2	3	1	2	1	1	2	5	2	4	2	1	3	0	2	1	3	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:42676717G>T	ENST00000397163.3	+	2	565	c.346G>T	c.(346-348)Gcc>Tcc	p.A116S	CAPN3_ENST00000356316.3_Missense_Mutation_p.A29S|CAPN3_ENST00000357568.3_Missense_Mutation_p.A116S|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000349748.3_Missense_Mutation_p.A116S|CAPN3_ENST00000318023.7_Missense_Mutation_p.A116S	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)	116	Calpain catalytic.				muscle organ development|proteolysis	cytoplasm	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity|signal transducer activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		CATTGATGGAGCCAACAGAAC	0.433													T	42676717	G	T	42676717	3	4	470	1	0	0	0	0	1	0	0	0	2654	971	34	4	404	4	CAPN3	15	42676717	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		42676717	59854675	16	44320											
IGF1R	3480	broad.mit.edu	37	chr15	99434555	99434555	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcctctctctccacagtGtgcccaagcacgtgtgggaa	7	10	9	15	1	3	0	0	0	3	0	6	1	3	1	3	1	2	1	3	1	2	0			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr15:99434555G>A	ENST00000268035.6	+	3	1253	c.642G>A	c.(640-642)atG>atA	p.M214I	IGF1R_ENST00000558762.1_Splice_Site_p.M214I|RP11-654A16.1_ENST00000558736.1_RNA|IGF1R_ENST00000560432.1_3'UTR	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	214					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	TCTCCACAGTGTGCCCAAGCA	0.647													A	99434555	G	A	99434555	5	1	470	1	0	0	0	0	0	0	1	0	7629	1391	48	2	652	2	IGF1R	15	99434555	Splice_Site	SNP	G	TCGA-FG-5963-01A-11D-1705-08	56757838	99434555	3096837	17	44321											
TP53	7157	broad.mit.edu	37	chr17	7578458	7578458	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagatggccatggcgcGgacgcgggtgccgggcgggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:7578458G>C	ENST00000420246.2	-	5	604	c.472C>G	c.(472-474)Cgc>Ggc	p.R158G	TP53_ENST00000445888.2_Missense_Mutation_p.R158G|TP53_ENST00000359597.4_Missense_Mutation_p.R158G|TP53_ENST00000455263.2_Missense_Mutation_p.R158G|TP53_ENST00000413465.2_Missense_Mutation_p.R158G|TP53_ENST00000269305.4_Missense_Mutation_p.R158G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			C	7578458	G	C	7578458	3	2	470	1	0	0	0	0	1	0	0	0	16482	1116	39	4	826	4	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		7578458	73616752	18	44322											
MYH2	4620	broad.mit.edu	37	chr17	10442867	10442867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagactctggaggtaggccGccttgtcagcaactaaaaag	12	8	11	10	1	3	1	2	0	1	1	3	2	3	2	2	3	2	2	2	3	5	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:10442867G>A	ENST00000245503.5	-	13	1544	c.1160C>T	c.(1159-1161)gCg>gTg	p.A387V	MYH2_ENST00000397183.2_Missense_Mutation_p.A387V|MYH2_ENST00000532183.2_Missense_Mutation_p.A387V|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	387	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.A387V(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GAGGTAGGCCGCCTTGTCAGC	0.428													A	10442867	G	A	10442867	3	1	470	1	0	0	0	0	1	0	0	0	10111	1087	38	1	4777	1	MYH2	17	10442867	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	2864409	10442867	70752343	19	44323											
FAM83G	644815	broad.mit.edu	37	chr17	18874945	18874945	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagccatggctgggccagcGtttctggtagagctctggac	6	9	14	12	1	2	1	0	0	2	1	2	2	2	2	3	4	3	4	3	4	1	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:18874945G>A	ENST00000388995.6	-	6	2422	c.2199C>T	c.(2197-2199)aaC>aaT	p.N733N	SLC5A10_ENST00000395645.3_Intron|FAM83G_ENST00000345041.4_Silent_p.N733N|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|FAM83G_ENST00000585154.2_Silent_p.N733N|SLC5A10_ENST00000317977.6_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	733										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CTGGGCCAGCGTTTCTGGTAG	0.642													A	18874945	G	A	18874945	2	1	470	1	0	0	0	0	0	0	0	1	5689	1136	40	1		1	FAM83G	17	18874945	Silent	SNP	G	TCGA-FG-5963-01A-11D-1705-08	8432078	18874945	62320265	20	44324											
NF1	4763	broad.mit.edu	37	chr17	29677227	29677227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttacagtgtctgaagaagttCgaagtcgctgcagcctaaaa	13	10	10	8	2	1	2	0	1	1	1	3	3	1	2	1	0	3	3	1	0	6	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29677227C>T	ENST00000358273.4	+	50	7731	c.7348C>T	c.(7348-7350)Cga>Tga	p.R2450*	NF1_ENST00000356175.3_Nonsense_Mutation_p.R2429*|NF1_ENST00000417592.2_Nonsense_Mutation_p.R163*|NF1_ENST00000444181.2_Nonsense_Mutation_p.R243*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2450					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.R2450*(6)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGAAGAAGTTCGAAGTCGCTG	0.363			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29677227	C	T	29677227	4	4	470	1	0	0	0	0	0	1	0	0	10432	876	31	1	7607	1	NF1	17	29677227	Nonsense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	10802282	29677227	51517983	21	44325											
NF1	4763	broad.mit.edu	37	chr17	29683983	29683984	+	Frame_Shift_Ins	INS	-	-	A																															ctatcttgctgcagaaactcINSagaggatttcctcatcacaa																										TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:29683983_29683984insA	ENST00000358273.4	+	53	8127_8128	c.7744_7745insA	c.(7744-7746)cagfs	p.Q2582fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.Q2561fs|NF1_ENST00000417592.2_3'UTR|NF1_ENST00000444181.2_Frame_Shift_Ins_p.Q375fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2582					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGCAGAAACTCAGAGGATTTCC	0.371			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29683984	-	A	29683983	7	5	470	1	0	1	1	0	0	0	0	0	10432	827	29	0	8015	0	NF1	17	29683983	Frame_Shift_Ins	INS	-	TCGA-FG-5963-01A-11D-1705-08	6756	29683983	51511227	22	44326											
ACACA	31	broad.mit.edu	37	chr17	35580444	35580444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatacttacctccagagctgCcatcctcactacttggttgc	9	12	6	14	0	1	1	1	0	0	1	3	1	3	1	4	1	6	2	4	1	4	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:35580444C>T	ENST00000353139.5	-	28	4034	c.3553G>A	c.(3553-3555)Gca>Aca	p.A1185T	ACACA_ENST00000360679.3_Missense_Mutation_p.A1090T|ACACA_ENST00000394406.2_Missense_Mutation_p.A1148T|ACACA_ENST00000335166.5_Missense_Mutation_p.A1070T	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1148					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCAGAGCTGCCATCCTCACT	0.403													T	35580444	C	T	35580444	3	4	470	1	0	0	0	0	1	0	0	0	106	739	26	2	3714	2	ACACA	17	35580444	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	5896461	35580444	45614766	23	44327											
ITGA2B	3674	broad.mit.edu	37	chr17	42455842	42455842	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccatctgcagctccaggAcattatctgccccaactagg	9	9	8	15	1	2	0	0	0	2	0	4	1	4	1	4	2	4	2	4	2	3	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr17:42455842A>C	ENST00000262407.5	-	20	2013	c.1982T>G	c.(1981-1983)gTc>gGc	p.V661G	ITGA2B_ENST00000353281.4_Missense_Mutation_p.V661G	NM_000419.3	NP_000410.2	P08514	ITA2B_HUMAN	integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)	661					axon guidance|integrin-mediated signaling pathway|platelet activation|platelet degranulation	integrin complex|platelet alpha granule membrane	identical protein binding|receptor activity			biliary_tract(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(8)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.191)	Tirofiban(DB00775)	CAGCTCCAGGACATTATCTGC	0.657													C	42455842	A	C	42455842	3	2	470	1	0	0	0	0	1	0	0	0	7934	275	10	5	1181	5	ITGA2B	17	42455842	Missense_Mutation	SNP	A	TCGA-FG-5963-01A-11D-1705-08	6875398	42455842	38739368	24	44328											
MAPRE2	10982	broad.mit.edu	37	chr18	32677539	32677539	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagcatcatttaagcGaatgaacgttgataaggtag	14	11	10	6	2	2	2	1	2	1	0	2	3	2	2	0	1	4	4	0	1	6	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:32677539G>T	ENST00000436190.2	+	4	618	c.344G>T	c.(343-345)cGa>cTa	p.R115L	MAPRE2_ENST00000588910.1_Missense_Mutation_p.R127L|MAPRE2_ENST00000300249.5_Missense_Mutation_p.R127L|MAPRE2_ENST00000538170.2_Missense_Mutation_p.R74L|MAPRE2_ENST00000589699.1_Missense_Mutation_p.R84L|MAPRE2_ENST00000413393.1_Missense_Mutation_p.R84L	NM_001143827.2	NP_001137299.1	Q15555	MARE2_HUMAN	microtubule-associated protein, RP/EB family, member 2	127	CH.				cell division|cell proliferation|mitosis|signal transduction	cytoplasm|microtubule	microtubule binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	9						TCATTTAAGCGAATGAACGTT	0.343													T	32677539	G	T	32677539	3	4	470	1	0	0	0	0	1	0	0	0	9370	1058	37	4	484	4	MAPRE2	18	32677539	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		32677539	45399709	25	44329											
DYM	54808	broad.mit.edu	37	chr18	46812851	46812851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtctgtaggggtttggcGcatctgaggcatctgtcaga	6	13	14	8	1	4	2	1	1	3	1	4	2	4	2	0	4	0	4	0	4	1	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr18:46812851G>A	ENST00000269445.6	-	9	1356	c.899C>T	c.(898-900)gCg>gTg	p.A300V	DYM_ENST00000442713.2_Missense_Mutation_p.A110V	NM_017653.3	NP_060123.3	Q7RTS9	DYM_HUMAN	dymeclin	300						Golgi apparatus				NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	18						GGGGTTTGGCGCATCTGAGGC	0.488													A	46812851	G	A	46812851	3	1	470	1	0	0	0	0	1	0	0	0	4879	1087	38	1	1146	1	DYM	18	46812851	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	14135312	46812851	31264397	26	44330											
LILRA1	11024	broad.mit.edu	37	chr19	55107882	55107882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcccactcggggacctacaGgtgctacggctcactcagct	8	7	11	15	2	2	0	2	0	0	0	3	1	2	1	2	4	5	3	2	4	2	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:55107882G>A	ENST00000251372.3	+	7	1369	c.1187G>A	c.(1186-1188)aGg>aAg	p.R396K	LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000453777.1_Intron|LILRB1_ENST00000448689.1_Intron|LILRA1_ENST00000473156.1_3'UTR	NM_006863.2	NP_006854.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	396	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		GGGACCTACAGGTGCTACGGC	0.587													A	55107882	G	A	55107882	3	1	470	1	0	0	0	0	1	0	0	0	8844	1000	35	2	1209	2	LILRA1	19	55107882	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		55107882	4021101	27	44331											
ZNF17	7565	broad.mit.edu	37	chr19	57932287	57932287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttatgaatgcagtgaatgtgGcaaattctttgtggacagct	11	14	11	5	0	1	2	0	2	1	0	1	3	1	3	0	2	2	3	0	2	4	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr19:57932287G>A	ENST00000307658.7	+	4	1696	c.1433G>A	c.(1432-1434)gGc>gAc	p.G478D	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.G476D			P17021	ZNF17_HUMAN	zinc finger protein 17	476					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGTGAATGTGGCAAATTCTTT	0.413													A	57932287	G	A	57932287	3	1	470	1	0	0	0	0	1	0	0	0	17844	1203	42	2	1437	2	ZNF17	19	57932287	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08	2824405	57932287	1196696	28	44332											
CTCFL	140690	broad.mit.edu	37	chr20	56093824	56093824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggctttacctccacactgGcatacttgcacatggaacat	11	11	7	12	0	0	0	0	0	0	0	1	1	1	1	2	3	4	3	2	3	3	4			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:56093824G>A	ENST00000608263.1	-	4	1710	c.1049C>T	c.(1048-1050)gCc>gTc	p.A350V	CTCFL_ENST00000608903.1_Missense_Mutation_p.A88V|CTCFL_ENST00000609232.1_Missense_Mutation_p.A350V|CTCFL_ENST00000433949.3_Missense_Mutation_p.A145V|CTCFL_ENST00000502686.2_Missense_Mutation_p.A88V|CTCFL_ENST00000539382.1_Missense_Mutation_p.A145V|CTCFL_ENST00000481655.2_Missense_Mutation_p.A350V|CTCFL_ENST00000432255.2_Missense_Mutation_p.A350V|CTCFL_ENST00000371196.2_Missense_Mutation_p.A350V|CTCFL_ENST00000429804.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608440.1_Missense_Mutation_p.A350V|CTCFL_ENST00000422869.2_Missense_Mutation_p.A350V|CTCFL_ENST00000608158.1_Missense_Mutation_p.A350V|CTCFL_ENST00000243914.3_Missense_Mutation_p.A350V|CTCFL_ENST00000423479.3_Missense_Mutation_p.A350V|CTCFL_ENST00000608425.1_Missense_Mutation_p.A350V|CTCFL_ENST00000608858.1_5'UTR	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CTCCACACTGGCATACTTGCA	0.443													A	56093824	G	A	56093824	3	1	470	1	0	0	0	0	1	0	0	0	4034	1203	42	2	970	2	CTCFL	20	56093824	Missense_Mutation	SNP	G	TCGA-FG-5963-01A-11D-1705-08		56093824	6931696	29	44333											
RTEL1	51750	broad.mit.edu	37	chr20	62321451	62321451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accccccaggttcgcctttgCcgacgcaagagcccaactgc	8	6	9	18	3	0	1	0	0	0	1	1	2	0	1	6	1	4	2	6	1	2	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr20:62321451C>T	ENST00000318100.4	+	25	2980	c.2153C>T	c.(2152-2154)gCc>gTc	p.A718V	RTEL1_ENST00000370018.3_Missense_Mutation_p.A718V|RTEL1_ENST00000370003.1_5'UTR|RTEL1_ENST00000360203.5_Missense_Mutation_p.A718V|RTEL1_ENST00000508582.2_Missense_Mutation_p.A742V|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.A718V	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	718					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			TTCGCCTTTGCCGACGCAAGA	0.617													T	62321451	C	T	62321451	3	4	470	1	0	0	0	0	1	0	0	0	13811	739	26	2	2247	2	RTEL1	20	62321451	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08	6227627	62321451	704069	30	44334											
LMF2	91289	broad.mit.edu	37	chr22	50943889	50943889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggccaaagtagtgcaCagtgccataggccagaagcc	12	5	11	13	0	0	1	0	0	0	1	1	1	1	1	5	2	3	2	5	2	4	2			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chr22:50943889C>A	ENST00000216080.5	-	7	1087	c.919G>T	c.(919-921)Gtg>Ttg	p.V307L	LMF2_ENST00000474879.2_Missense_Mutation_p.V332L|LMF2_ENST00000380796.3_Missense_Mutation_p.V332L			Q9BU23	LMF2_HUMAN	lipase maturation factor 2	332						endoplasmic reticulum membrane|integral to membrane				breast(1)|cervix(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(38;1.31e-09)|all_epithelial(38;1.81e-08)|all_lung(38;0.000817)|Breast(42;0.00387)|Lung NSC(38;0.0124)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		AAGTAGTGCACAGTGCCATAG	0.662													A	50943889	C	A	50943889	3	1	470	1	0	0	0	0	1	0	0	0	8907	478	17	4	1161	4	LMF2	22	50943889	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		50943889	360677	31	44335											
ZNF630	57232	broad.mit.edu	37	chrX	47920207	47920207	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctgcccttacccacggagaCcaggtgattataggtctcca	9	10	9	13	1	2	2	0	1	2	1	3	3	2	2	4	3	2	0	4	3	3	3			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:47920207C>A	ENST00000442455.3	-	3	434	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F	ZNF630-AS1_ENST00000436124.1_RNA|ZNF630_ENST00000276054.4_5'UTR|ZNF630_ENST00000409324.3_Missense_Mutation_p.V45F	NM_001190255.1	NP_001177184.1	Q2M218	ZN630_HUMAN	zinc finger protein 630	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						CCCACGGAGACCAGGTGATTA	0.483													A	47920207	C	A	47920207	3	1	470	1	0	0	0	0	1	0	0	0	18155	507	18	4	1852	4	ZNF630	23	47920207	Missense_Mutation	SNP	C	TCGA-FG-5963-01A-11D-1705-08		47920207	107350353	32	44336											
GSPT2	23708	broad.mit.edu	37	chrX	51488255	51488255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattcatactttgtgaTcctagtaacctctgccattc	9	14	6	12	0	2	1	1	1	1	0	4	2	3	2	4	1	3	1	4	1	3	6			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:51488255T>A	ENST00000340438.4	+	1	1775	c.1533T>A	c.(1531-1533)gaT>gaA	p.D511E		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	511					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					TACTTTGTGATCCTAGTAACC	0.418													A	51488255	T	A	51488255	3	1	470	1	0	0	0	0	1	0	0	0	6882	1432	50	5	1535	5	GSPT2	23	51488255	Missense_Mutation	SNP	T	TCGA-FG-5963-01A-11D-1705-08	3568048	51488255	103782305	33	44337											
ATRX	546	broad.mit.edu	37	chrX	76813115	76813115	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaatcttatcttccatggttCcctttgtaaaaagaaggaag	14	13	7	7	0	2	1	0	0	2	1	4	2	4	2	2	2	0	2	2	2	7	5			TCGA-FG-5963-01A-11D-1705-08	TCGA-FG-5963-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22326318-2d69-4163-96f3-2729ac0ed905	8db33879-438e-4e72-a0f5-46f899011432	g.chrX:76813115C>T	ENST00000373344.5	-	30	6720	c.6506G>A	c.(6505-6507)gGa>gAa	p.G2169E	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2131E	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2169	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)	TTCCATGGTTCCCTTTGTAAA	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76813115	C	T	76813115	5	4	470	1	0	0	0	0	0	0	1	0	1213	869	30	2	996	2	ATRX	23	76813115	Splice_Site	SNP	C	TCGA-FG-5963-01A-11D-1705-08	25324860	76813115	78457445	34	44338											
UQCRH	7388	broad.mit.edu	37	chr1	46775912	46775912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctagagctctgtgatgagcGtgtatcctctcgatcacata	9	12	10	10	2	3	3	1	2	2	1	5	4	4	3	1	0	2	3	1	0	3	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:46775912G>A	ENST00000311672.5	+	3	303	c.167G>A	c.(166-168)cGt>cAt	p.R56H		NM_001089591.1|NM_006004.2	NP_001083060.1|NP_005995.2	P07919	QCR6_HUMAN	ubiquinol-cytochrome c reductase hinge protein	56					aerobic respiration|mitochondrial electron transport, ubiquinol to cytochrome c		ubiquinol-cytochrome-c reductase activity			large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	4	Acute lymphoblastic leukemia(166;0.155)					TGTGATGAGCGTGTATCCTCT	0.512													A	46775912	G	A	46775912	3	1	471	1	0	0	0	0	1	0	0	0	17124	1145	40	1	177	1	UQCRH	1	46775912	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		46775912	202474709	1	44339											
OBSCN	84033	broad.mit.edu	37	chr1	228529314	228529314	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtctggccctgcctgtgtgGcgtgagtgtccaccttcccg	2	11	13	15	3	1	1	0	1	1	0	3	1	3	1	5	2	1	0	5	2	0	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:228529314G>A	ENST00000570156.2	+	85	20978	c.20904G>A	c.(20902-20904)tgG>tgA	p.W6968*	OBSCN_ENST00000284548.11_Splice_Site_p.W6011*|OBSCN_ENST00000366707.4_Splice_Site_p.W3645*|OBSCN_ENST00000422127.1_Splice_Site_p.W6011*|OBSCN_ENST00000366709.4_Splice_Site_p.W3130*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6011					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCCTGTGTGGCGTGAGTGTC	0.672													A	228529314	G	A	228529314	5	1	471	1	0	0	0	0	0	0	1	0	10888	1217	42	2	18323	2	OBSCN	1	228529314	Splice_Site	SNP	G	TCGA-FG-5964-01A-11D-1705-08	181753402	228529314	20721307	2	44340											
SIPA1L2	57568	broad.mit.edu	37	chr1	232607260	232607260	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgatgtcatttcctatgtgCcttttcctcagtagctgtgg	6	16	9	10	1	2	0	2	0	0	0	4	1	4	0	3	1	2	2	3	1	2	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr1:232607260C>T	ENST00000366630.1	-	7	2458	c.2100G>A	c.(2098-2100)agG>agA	p.R700R	SIPA1L2_ENST00000262861.4_Silent_p.R700R			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	700	Rap-GAP.				regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				TTCCTATGTGCCTTTTCCTCA	0.383													T	232607260	C	T	232607260	2	4	471	1	0	0	0	0	0	0	0	1	14424	738	26	2		2	SIPA1L2	1	232607260	Silent	SNP	C	TCGA-FG-5964-01A-11D-1705-08	4077946	232607260	16643361	3	44341											
ALMS1	7840	broad.mit.edu	37	chr2	73836722	73836722	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatcaacttctggggagaAaagttccctgggactgacac	12	8	10	11	0	2	2	1	1	1	1	3	4	3	3	2	3	1	1	2	3	4	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:73836722A>G	ENST00000264448.6	+	23	12598	c.12487A>G	c.(12487-12489)Aaa>Gaa	p.K4163E	ALMS1_ENST00000409009.1_Missense_Mutation_p.K4121E	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	4163					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TCTGGGGAGAAAAGTTCCCTG	0.433													G	73836722	A	G	73836722	3	3	471	1	0	0	0	0	1	0	0	0	535	15	1	3	12577	3	ALMS1	2	73836722	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08		73836722	169362651	4	44342											
MARCO	8685	broad.mit.edu	37	chr2	119739756	119739756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggactgcagggtgttcCgggccctcctggtgcagtgg	4	9	16	12	1	0	0	0	0	0	0	2	1	2	1	4	5	2	3	4	5	0	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:119739756C>T	ENST00000541757.1	+	12	1072	c.692C>T	c.(691-693)cCg>cTg	p.P231L	MARCO_ENST00000327097.4_Missense_Mutation_p.P309L			Q9UEW3	MARCO_HUMAN	macrophage receptor with collagenous structure	309	Collagen-like.				cell surface receptor linked signaling pathway|innate immune response	collagen|integral to plasma membrane	pattern recognition receptor activity|scavenger receptor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(12)|lung(37)|ovary(4)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	70						CAGGGTGTTCCGGGCCCTCCT	0.642													T	119739756	C	T	119739756	3	4	471	1	0	0	0	0	1	0	0	0	9386	652	23	1	968	1	MARCO	2	119739756	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	45903034	119739756	123459617	5	44343											
WDR33	55339	broad.mit.edu	37	chr2	128463958	128463961	+	Frame_Shift_Del	DEL	CTCC	CTCC	-																															gcgggccagagttcatgttaCtccctctaccccagttactg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:128463958_128463961delCTCC	ENST00000322313.4	-	22	4105_4108	c.3947_3950delGGAG	c.(3946-3951)gggagtfs	p.GS1316fs		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	1316					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)		GTTCATGTTACTCCCTCTACCCCA	0.613													-	128463961	CTCC	-	128463958	7	5	471	1	0	1	0	1	0	0	0	0	17389	565	20	0	64	0	WDR33	2	128463958	Frame_Shift_Del	DEL	CTCC	TCGA-FG-5964-01A-11D-1705-08	8724202	128463958	114735415	6	44344											
CLK1	1195	broad.mit.edu	37	chr2	201726490	201726493	+	Frame_Shift_Del	DEL	CTTC	CTTC	-																															tgggcactgctatgtgatctCttccttcttttatgactgct																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:201726490_201726493delCTTC	ENST00000434813.2	-	2	553_556	c.219_222delGAAG	c.(217-222)aggaagfs	p.RK73fs	CLK1_ENST00000492793.1_Intron|CLK1_ENST00000321356.4_Frame_Shift_Del_p.RK31fs	NM_001162407.1	NP_001155879.1	P49759	CLK1_HUMAN	CDC-like kinase 1	31					cell proliferation	nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TATGTGATCTCTTCCTTCTTTTAT	0.397													-	201726493	CTTC	-	201726490	7	5	471	1	0	1	0	1	0	0	0	0	3567	912	32	0	1406	0	CLK1	2	201726490	Frame_Shift_Del	DEL	CTTC	TCGA-FG-5964-01A-11D-1705-08	73262532	201726490	41472883	7	44345											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	471	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	7386622	209113112	34086261	8	44346											
FANCD2	2177	broad.mit.edu	37	chr3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catttctgaagcaatgtatgCcgctcctagacttcagtttt	9	15	7	10	1	2	2	1	1	1	1	3	2	3	2	2	0	2	4	2	0	4	6			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	10136015	C	T	10136015	3	4	471	1	0	0	0	0	1	0	0	0	5714	739	26	2	4085	2	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		10136015	187886415	9	44347											
HCLS1	3059	broad.mit.edu	37	chr3	121351926	121351926	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcttacctccgggagagtCtgcctaatgggcagcaaggg	8	9	14	10	1	1	1	0	0	1	1	2	2	2	1	3	3	4	3	3	3	3	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr3:121351926C>A	ENST00000314583.3	-	11	1087	c.996G>T	c.(994-996)caG>caT	p.Q332H	HCLS1_ENST00000473883.1_5'UTR|HCLS1_ENST00000428394.2_Missense_Mutation_p.Q295H	NM_005335.4	NP_005326	P14317	HCLS1_HUMAN	hematopoietic cell-specific Lyn substrate 1	332					erythrocyte differentiation|intracellular signal transduction|positive regulation of cell proliferation|positive regulation of tyrosine phosphorylation of STAT protein|response to hormone stimulus	mitochondrion|nucleus|plasma membrane	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				GBM - Glioblastoma multiforme(114;0.0912)		CCGGGAGAGTCTGCCTAATGG	0.587													A	121351926	C	A	121351926	3	1	471	1	0	0	0	0	1	0	0	0	7050	912	32	4	480	4	HCLS1	3	121351926	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08	111215911	121351926	76670504	10	44348											
RBPJ	3516	broad.mit.edu	37	chr4	26426086	26426088	+	In_Frame_Del	DEL	TTT	TTT	-																															gttcacagcagtggggagccTtttttattcatctctgtgag																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:26426086_26426088delTTT	ENST00000342320.4	+	6	792_794	c.616_618delTTT	c.(616-618)tttdel	p.F207del	RBPJ_ENST00000507561.1_In_Frame_Del_p.F186del|RBPJ_ENST00000342295.1_In_Frame_Del_p.F221del|RBPJ_ENST00000504907.1_In_Frame_Del_p.F207del|RBPJ_ENST00000348160.4_In_Frame_Del_p.F208del|RBPJ_ENST00000355476.3_In_Frame_Del_p.F207del|RBPJ_ENST00000361572.6_In_Frame_Del_p.F221del|RBPJ_ENST00000345843.3_In_Frame_Del_p.F206del			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	221					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCATC	0.36													-	26426088	TTT	-	26426086	7	5	471	1	0	1	0	1	0	0	0	0	13249	1609	56	0	743	0	RBPJ	4	26426086	In_Frame_Del	DEL	TTT	TCGA-FG-5964-01A-11D-1705-08		26426086	164728190	11	44349											
BBS7	55212	broad.mit.edu	37	chr4	122782768	122782768	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aataaaaattttctcctgagGtgtgttgataacccctccca	12	13	6	10	0	1	2	0	2	1	0	3	2	2	2	4	1	1	1	4	1	5	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr4:122782768G>A	ENST00000264499.4	-	4	415	c.232C>T	c.(232-234)Cct>Tct	p.P78S	BBS7_ENST00000506636.1_Missense_Mutation_p.P78S	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	78					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCTCCTGAGGTGTGTTGATA	0.418									Bardet-Biedl syndrome				A	122782768	G	A	122782768	3	1	471	1	0	0	0	0	1	0	0	0	1346	1261	44	2	1984	2	BBS7	4	122782768	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	96356682	122782768	68371508	12	44350											
CAST	831	broad.mit.edu	37	chr5	96077000	96077000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagatgatgctatagacGccttgtcatctgacttcacc	9	11	9	12	1	3	4	2	2	1	2	3	4	3	4	3	1	1	1	3	1	2	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr5:96077000G>A	ENST00000395813.1	+	14	1135	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	CAST_ENST00000341926.3_Missense_Mutation_p.A234T|CAST_ENST00000511782.1_Missense_Mutation_p.A220T|CAST_ENST00000504465.1_Missense_Mutation_p.A162T|CAST_ENST00000508830.1_Missense_Mutation_p.A317T|CAST_ENST00000359176.4_Missense_Mutation_p.A298T|CAST_ENST00000509903.1_Missense_Mutation_p.A199T|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000338252.3_Missense_Mutation_p.A221T|CTC-506B8.1_ENST00000502568.1_RNA|CAST_ENST00000325674.7_Missense_Mutation_p.A282T|CAST_ENST00000508608.1_Missense_Mutation_p.A280T|CAST_ENST00000395812.2_Missense_Mutation_p.A276T|CAST_ENST00000511049.1_Missense_Mutation_p.A220T|CAST_ENST00000309190.5_Missense_Mutation_p.A212T|CAST_ENST00000510756.1_Missense_Mutation_p.A295T	NM_001284213.1	NP_001271142.1	P20810	ICAL_HUMAN	calpastatin	234							calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding			breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		TGCTATAGACGCCTTGTCATC	0.433													A	96077000	G	A	96077000	3	1	471	1	0	0	0	0	1	0	0	0	2710	1087	38	1	1003	1	CAST	5	96077000	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		96077000	84838260	13	44351											
PCDHGC4	56098	broad.mit.edu	37	chr5	140866540	140866540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctgtggacttggattcAggttacaatgcttgggtttc	7	15	12	7	0	1	0	1	0	0	0	2	2	1	2	0	4	3	4	0	4	2	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr5:140866540A>G	ENST00000306593.1	+	1	1800	c.1800A>G	c.(1798-1800)tcA>tcG	p.S600S	PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA12_ENST00000252085.3_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACTTGGATTCAGGTTACAATG	0.572													G	140866540	A	G	140866540	2	3	471	1	0	0	0	0	0	0	0	1	11646	175	7	3		3	PCDHGC4	5	140866540	Silent	SNP	A	TCGA-FG-5964-01A-11D-1705-08	44789540	140866540	40048720	14	44352											
HIST1H3C	8352	broad.mit.edu	37	chr6	26045799	26045799	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccttgcgcgaaatccgtcGctaccagaagtccaccgagc	9	6	11	15	5	0	1	0	0	0	1	3	3	2	1	5	1	3	1	5	1	3	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:26045799G>A	ENST00000540144.1	+	1	161	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_003531.2	NP_003522.1	P68431	H31_HUMAN	histone cluster 1, H3c	54					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|skin(1)	8						GAAATCCGTCGCTACCAGAAG	0.622													A	26045799	G	A	26045799	3	1	471	1	0	0	0	0	1	0	0	0	7212	1087	38	1	163	1	HIST1H3C	6	26045799	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		26045799	145069268	15	44353											
MRPS18B	28973	broad.mit.edu	37	chr6	30587286	30587287	+	Frame_Shift_Del	DEL	TT	TT	-																															gtaggttcccctccagactcTttgcaccaaagctccctctg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:30587286_30587287delTT	ENST00000259873.4	+	2	252_253	c.95_96delTT	c.(94-96)cttfs	p.L32fs	MRPS18B_ENST00000506373.2_Frame_Shift_Del_p.L32fs|MRPS18B_ENST00000472229.1_3'UTR	NM_014046.3	NP_054765.1	Q9Y676	RT18B_HUMAN	mitochondrial ribosomal protein S18B	32					translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|skin(2)	13						CTCCAGACTCTTTGCACCAAAG	0.401													-	30587287	TT	-	30587286	7	5	471	1	0	1	0	1	0	0	0	0	9905	1609	56	0	101	0	MRPS18B	6	30587286	Frame_Shift_Del	DEL	TT	TCGA-FG-5964-01A-11D-1705-08	4541487	30587286	140527781	16	44354											
RIPPLY2	134701	broad.mit.edu	37	chr6	84567021	84567021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaagcagaagctcttctGaaaaattttccaattcaagc	16	10	6	9	0	3	3	1	1	2	2	4	3	4	3	1	0	3	2	1	0	7	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:84567021G>A	ENST00000369689.1	+	4	451	c.300G>A	c.(298-300)ctG>ctA	p.L100L	RIPPLY2_ENST00000369687.1_Silent_p.L42L	NM_001009994.1	NP_001009994.1	Q5TAB7	RIPP2_HUMAN	ripply transcriptional repressor 2	100	Ripply homology domain.				somite rostral/caudal axis specification	nucleus				large_intestine(2)|lung(4)|urinary_tract(1)	7						AAGCTCTTCTGAAAAATTTTC	0.308													A	84567021	G	A	84567021	2	1	471	1	0	0	0	0	0	0	0	1	13476	1277	45	2		2	RIPPLY2	6	84567021	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08	53979735	84567021	86548046	17	44355											
FUCA2	2519	broad.mit.edu	37	chr6	143823182	143823182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcagtcgctcctcaaaaacTacagaaatggtgccatctag	13	9	7	12	1	3	1	2	0	1	1	5	1	4	1	2	1	3	1	2	1	5	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr6:143823182T>C	ENST00000438118.2	-	3	517	c.490A>G	c.(490-492)Agt>Ggt	p.S164G	RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000367585.1_5'UTR|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000002165.6_Silent_p.V347V|RP1-20N2.6_ENST00000610068.1_RNA			Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma	0					fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CCTCAAAAACTACAGAAATGG	0.408													C	143823182	T	C	143823182	3	2	471	1	0	0	0	0	1	0	0	0	6147	1509	53	3	374	3	FUCA2	6	143823182	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	59256161	143823182	27291885	18	44356											
ARL4A	10124	broad.mit.edu	37	chr7	12728267	12728268	+	Frame_Shift_Ins	INS	-	-	T																															aaatcagggagtccctgtacINSttatagttgctaacaaacaa																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:12728267_12728268insT	ENST00000396663.1	+	2	870_871	c.388_389insT	c.(388-390)cttfs	p.L130fs	ARL4A_ENST00000396664.2_Frame_Shift_Ins_p.L130fs|ARL4A_ENST00000404894.1_Frame_Shift_Ins_p.L130fs|ARL4A_ENST00000396662.1_Frame_Shift_Ins_p.L130fs|ARL4A_ENST00000356797.3_Frame_Shift_Ins_p.L130fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	130					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		AGTCCCTGTACTTATAGTTGCT	0.381													T	12728268	-	T	12728267	7	5	471	1	0	1	1	0	0	0	0	0	941	565	20	0	390	0	ARL4A	7	12728267	Frame_Shift_Ins	INS	-	TCGA-FG-5964-01A-11D-1705-08		12728267	146410396	19	44357											
EVX1	2128	broad.mit.edu	37	chr7	27282671	27282671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagagccgaaaggacatgGttgtgtttctggatgggggt	8	11	18	4	1	1	1	0	0	1	1	1	5	1	3	1	6	1	2	1	6	1	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:27282671G>C	ENST00000496902.4	+	1	508	c.22G>C	c.(22-24)Gtt>Ctt	p.V8L	EVX1-AS_ENST00000517726.1_RNA|EVX1-AS_ENST00000519218.1_RNA|EVX1_ENST00000222761.3_Missense_Mutation_p.V8L			P49640	EVX1_HUMAN	even-skipped homeobox 1	8						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|liver(1)|lung(10)|prostate(1)|skin(1)	14						AAAGGACATGGTTGTGTTTCT	0.642													C	27282671	G	C	27282671	3	2	471	1	0	0	0	0	1	0	0	0	5335	1261	44	4	24	4	EVX1	7	27282671	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	14554404	27282671	131855992	20	44358											
NRCAM	4897	broad.mit.edu	37	chr7	107808830	107808830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtaagattgctgatccTgggatttactgcttgaacta	11	13	10	7	0	0	3	0	2	0	1	1	4	1	4	1	1	5	4	1	1	4	6			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:107808830T>C	ENST00000379028.3	-	29	3675	c.3205A>G	c.(3205-3207)Agg>Ggg	p.R1069G	NRCAM_ENST00000379024.4_Intron|NRCAM_ENST00000379022.4_Missense_Mutation_p.R1069G|NRCAM_ENST00000351718.4_Intron|NRCAM_ENST00000413765.2_Intron|NRCAM_ENST00000425651.2_Missense_Mutation_p.R1069G			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	1069	Fibronectin type-III 5.				angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						TTGCTGATCCTGGGATTTACT	0.353													C	107808830	T	C	107808830	3	2	471	1	0	0	0	0	1	0	0	0	10720	1579	55	3	759	3	NRCAM	7	107808830	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	80526159	107808830	51329833	21	44359											
PODXL	5420	broad.mit.edu	37	chr7	131189169	131189171	+	In_Frame_Del	DEL	CTT	CTT	-																															tccccgttgaggctgaccacCttcttctcctgcatctcaga																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr7:131189169_131189171delCTT	ENST00000541194.1	-	9	1839_1841	c.1582_1584delAAG	c.(1582-1584)aagdel	p.K528del	PODXL_ENST00000378555.3_In_Frame_Del_p.K526del|PODXL_ENST00000537928.1_In_Frame_Del_p.K494del|PODXL_ENST00000322985.9_In_Frame_Del_p.K494del	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	526					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					GGCTGACCACCTTCTTCTCCTGC	0.557													-	131189171	CTT	-	131189169	7	5	471	1	0	1	0	1	0	0	0	0	12257	680	24	0	102	0	PODXL	7	131189169	In_Frame_Del	DEL	CTT	TCGA-FG-5964-01A-11D-1705-08	23380339	131189169	27949494	22	44360											
RAB2A	5862	broad.mit.edu	37	chr8	61484623	61484623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtgtagagttcggtgctcGaatgataactattgatggga	11	12	14	4	2	0	3	0	2	0	1	2	5	0	4	0	3	2	3	0	3	4	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:61484623G>A	ENST00000262646.7	+	3	488	c.137G>A	c.(136-138)cGa>cAa	p.R46Q	RAB2A_ENST00000529579.1_Missense_Mutation_p.R46Q|RAB2A_ENST00000531289.1_Missense_Mutation_p.R22Q	NM_002865.2	NP_002856.1	P61019	RAB2A_HUMAN	RAB2A, member RAS oncogene family	46					ER to Golgi vesicle-mediated transport|protein transport|small GTPase mediated signal transduction	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|melanosome	GDP binding|GTP binding|GTPase activity			endometrium(1)|large_intestine(1)|lung(4)	6			BRCA - Breast invasive adenocarcinoma(89;0.0805)			TTCGGTGCTCGAATGATAACT	0.323													A	61484623	G	A	61484623	3	1	471	1	0	0	0	0	1	0	0	0	13005	1058	37	1	147	1	RAB2A	8	61484623	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		61484623	84879399	23	44361											
ZFHX4	79776	broad.mit.edu	37	chr8	77776374	77776377	+	Frame_Shift_Del	DEL	CAAT	CAAT	-																															aagcttgcacaaagagaaaaCaatcaaacaagcaatgagaa																								rs76951673		TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:77776374_77776377delCAAT	ENST00000521891.2	+	11	10872_10875	c.10424_10427delCAAT	c.(10423-10428)acaatcfs	p.TI3475fs	ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.TI3426fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.TI3430fs|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.TI3449fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	3426	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AAAGAGAAAACAATCAAACAAGCA	0.456										HNSCC(33;0.089)			-	77776377	CAAT	-	77776374	7	5	471	1	0	1	0	1	0	0	0	0	17736	478	17	0	10462	0	ZFHX4	8	77776374	Frame_Shift_Del	DEL	CAAT	TCGA-FG-5964-01A-11D-1705-08	16291751	77776374	68587648	24	44362											
RBM12B	389677	broad.mit.edu	37	chr8	94745644	94745648	+	Frame_Shift_Del	DEL	TTAAC	TTAAC	-																															gctctctctctacagcaaagTtaacttaacttttcggggcc																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr8:94745644_94745648delTTAAC	ENST00000399300.2	-	3	3204_3208	c.2991_2995delGTTAA	c.(2989-2997)aagttaactfs	p.KLT997fs	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000517700.1_Frame_Shift_Del_p.KLT877fs|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	997	RRM 4.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TACAGCAAAGTTAACTTAACTTTTC	0.332													-	94745648	TTAAC	-	94745644	7	5	471	1	0	1	0	1	0	0	0	0	13202	1725	60	0	14	0	RBM12B	8	94745644	Frame_Shift_Del	DEL	TTAAC	TCGA-FG-5964-01A-11D-1705-08	16969270	94745644	51618378	25	44363											
MELK	9833	broad.mit.edu	37	chr9	36607659	36607661	+	In_Frame_Del	DEL	AAG	AAG	-																															ataatgtaatggctttatacAagaagattatggtgagtatt																								rs35142210	byFrequency	TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr9:36607659_36607661delAAG	ENST00000543751.1	+	7	704_706	c.559_561delAAG	c.(559-561)aagdel	p.K188del	MELK_ENST00000538311.1_In_Frame_Del_p.K26del|MELK_ENST00000536329.1_In_Frame_Del_p.K149del|MELK_ENST00000541717.1_In_Frame_Del_p.K220del|MELK_ENST00000536987.1_In_Frame_Del_p.K89del|MELK_ENST00000298048.2_In_Frame_Del_p.K220del|MELK_ENST00000487398.1_3'UTR|MELK_ENST00000536860.1_In_Frame_Del_p.K172del|MELK_ENST00000545008.1_In_Frame_Del_p.K149del	NM_001256689.1	NP_001243618.1	Q14680	MELK_HUMAN	maternal embryonic leucine zipper kinase	220	Protein kinase.					cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(6)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)	29		Acute lymphoblastic leukemia(2;1.09e-08)|all_hematologic(2;8.15e-06)	STAD - Stomach adenocarcinoma(86;0.228)			GGCTTTATACAAGAAGATTATGG	0.33													-	36607661	AAG	-	36607659	7	5	471	1	0	1	0	1	0	0	0	0	9545	131	5	0	681	0	MELK	9	36607659	In_Frame_Del	DEL	AAG	TCGA-FG-5964-01A-11D-1705-08		36607659	104605772	26	44364											
AKR1C3	8644	broad.mit.edu	37	chr10	5144389	5144389	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagtgctctgggatctcaaCgagacaaacgatggtaataa	15	9	10	7	2	2	1	1	0	2	1	3	4	2	2	0	2	3	2	0	2	5	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:5144389C>T	ENST00000380554.3	+	6	1319	c.667C>T	c.(667-669)Cga>Tga	p.R223*	AKR1C3_ENST00000439082.2_Nonsense_Mutation_p.R104*|AKR1C3_ENST00000605149.1_Nonsense_Mutation_p.R200*	NM_001253908.1|NM_003739.5	NP_001240837.1|NP_003730.4	P42330	AK1C3_HUMAN	aldo-keto reductase family 1, member C3	223					prostaglandin metabolic process	cytoplasm	aldo-keto reductase (NADP) activity|androsterone dehydrogenase (A-specific) activity|indanol dehydrogenase activity|prostaglandin-F synthase activity|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity|trans-1,2-dihydrobenzene-1,2-diol dehydrogenase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|skin(1)	14					Dimethyl sulfoxide(DB01093)|NADH(DB00157)	GGGATCTCAACGAGACAAACG	0.383													T	5144389	C	T	5144389	4	4	471	1	0	0	0	0	0	1	0	0	471	528	19	1	689	1	AKR1C3	10	5144389	Nonsense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		5144389	130390358	27	44365											
KIAA1217	56243	broad.mit.edu	37	chr10	24825812	24825812	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcgccacagtgccacccaAggagaagaaggtaacgtggc	12	3	15	11	2	0	2	0	0	0	2	0	3	0	2	3	4	2	1	3	4	4	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24825812A>T	ENST00000376451.2	+	12	2833	c.2573A>T	c.(2572-2574)aAg>aTg	p.K858M	KIAA1217_ENST00000307544.6_Missense_Mutation_p.K858M|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Missense_Mutation_p.K1175M|KIAA1217_ENST00000396445.1_Missense_Mutation_p.K858M|KIAA1217_ENST00000458595.1_Missense_Mutation_p.K1140M|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376452.3_Missense_Mutation_p.K1139M			Q5T5P2	SKT_HUMAN	KIAA1217	1175					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						GTGCCACCCAAGGAGAAGAAG	0.507													T	24825812	A	T	24825812	3	4	471	1	0	0	0	0	1	0	0	0	8274	72	3	5	3590	5	KIAA1217	10	24825812	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	19681423	24825812	110708935	28	44366											
KIAA1217	56243	broad.mit.edu	37	chr10	24833960	24833960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctgtccccatgagtgcCaagaacagacccggaaccct	11	6	9	15	1	0	3	0	1	0	2	1	4	1	4	6	1	4	0	6	1	3	0			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:24833960C>T	ENST00000376451.2	+	15	4571	c.4311C>T	c.(4309-4311)gcC>gcT	p.A1437A	KIAA1217_ENST00000307544.6_Silent_p.A904A|KIAA1217_ENST00000376462.1_Silent_p.A1075A|KIAA1217_ENST00000376454.3_Silent_p.A1754A|KIAA1217_ENST00000396445.1_Silent_p.A878A|KIAA1217_ENST00000458595.1_Silent_p.A1160A|KIAA1217_ENST00000396446.1_Silent_p.A838A|KIAA1217_ENST00000376452.3_Silent_p.A1185A			Q5T5P2	SKT_HUMAN	KIAA1217	1754					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCATGAGTGCCAAGAACAGAC	0.572													T	24833960	C	T	24833960	2	4	471	1	0	0	0	0	0	0	0	1	8274	581	21	2		2	KIAA1217	10	24833960	Silent	SNP	C	TCGA-FG-5964-01A-11D-1705-08	8148	24833960	110700787	29	44367											
CALHM2	51063	broad.mit.edu	37	chr10	105209092	105209092	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactaggccatccccggaccTctcaccagccaccactaggg	9	5	8	19	1	1	0	1	0	1	0	3	1	2	1	7	3	1	0	7	3	2	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr10:105209092T>C	ENST00000393235.1	-	3	1804	c.607A>G	c.(607-609)Agg>Ggg	p.R203G	CALHM2_ENST00000369788.3_Intron|CALHM2_ENST00000260743.5_Intron			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	0						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						TCCCCGGACCTCTCACCAGCC	0.592													C	105209092	T	C	105209092	3	2	471	1	0	0	0	0	1	0	0	0	2609	1566	54	3		3	CALHM2	10	105209092	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	80375132	105209092	30325655	30	44368											
RBM14	10432	broad.mit.edu	37	chr11	66392068	66392068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagctacctaccgggcccagCcgtccgtgtcactgggagct	6	7	12	16	3	1	0	1	0	0	0	2	1	2	1	5	2	5	2	5	2	2	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr11:66392068C>T	ENST00000310137.4	+	2	860	c.721C>T	c.(721-723)Ccg>Tcg	p.P241S	RBM14_ENST00000393979.3_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM14_ENST00000409738.4_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000511114.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron	NM_006328.3	NP_006319.1	Q96PK6	RBM14_HUMAN	RNA binding motif protein 14	241	Ala-rich.				DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|histone deacetylation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus	mediator complex|ribonucleoprotein complex|transcription factor complex	ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|protein binding, bridging|RNA binding|RNA polymerase II transcription cofactor activity		RBM14/PACS1(2)	breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17						CCGGGCCCAGCCGTCCGTGTC	0.652													T	66392068	C	T	66392068	3	4	471	1	0	0	0	0	1	0	0	0	13203	739	26	2	727	2	RBM14	11	66392068	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		66392068	68614448	31	44369											
TENC1	23371	broad.mit.edu	37	chr12	53457348	53457348	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttctccttctgcagaTggaccaacccagacgggacc	8	9	8	16	1	3	2	0	0	3	2	4	4	3	4	5	2	2	1	5	2	1	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:53457348T>C	ENST00000314250.6	+	28	4353	c.4063T>C	c.(4063-4065)Tgg>Cgg	p.W1355R	TENC1_ENST00000314276.3_Splice_Site_p.W1365R|TENC1_ENST00000379902.3_Splice_Site_p.W1231R|TENC1_ENST00000552570.1_Splice_Site_p.W1353R|TENC1_ENST00000546602.1_Splice_Site_p.W1258R|TENC1_ENST00000451358.1_Splice_Site_p.W1345R|TENC1_ENST00000549700.1_Splice_Site_p.W1290R	NM_170754.2	NP_736610.2	Q63HR2	TENC1_HUMAN	tensin like C1 domain containing phosphatase (tensin 2)	1355					intracellular signal transduction|negative regulation of cell proliferation	focal adhesion	metal ion binding|phosphoprotein phosphatase activity|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(19)|ovary(1)|pancreas(1)|stomach(3)	34						CTTCTGCAGATGGACCAACCC	0.642													C	53457348	T	C	53457348	5	2	471	1	0	0	0	0	0	0	1	0	15858	1478	51	3	4282	3	TENC1	12	53457348	Splice_Site	SNP	T	TCGA-FG-5964-01A-11D-1705-08		53457348	80394547	32	44370											
PAN2	9924	broad.mit.edu	37	chr12	56721813	56721813	+	Frame_Shift_Del	DEL	T	T	-																															ggccgcagaagaagaagcgaTttgtctgtctcatgatggtg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:56721813delT	ENST00000425394.2	-	5	993	c.617delA	c.(616-618)aatfs	p.N206fs	PAN2_ENST00000440411.3_Frame_Shift_Del_p.N206fs|PAN2_ENST00000548043.1_Frame_Shift_Del_p.N206fs|PAN2_ENST00000257931.5_Frame_Shift_Del_p.N206fs	NM_001127460.2	NP_001120932	Q504Q3	PAN2_HUMAN	PAN2 poly(A) specific ribonuclease subunit homolog (S. cerevisiae)	206					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|ubiquitin-dependent protein catabolic process	cytosol|nucleus	nucleic acid binding|poly(A)-specific ribonuclease activity|ubiquitin thiolesterase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	41						GAAGAAGCGATTTGTCTGTCT	0.512													-	56721813	T	-	56721813	7	5	471	1	0	1	0	1	0	0	0	0	11490	1493	52	0	3079	0	PAN2	12	56721813	Frame_Shift_Del	DEL	T	TCGA-FG-5964-01A-11D-1705-08	3264465	56721813	77130082	33	44371											
LRP1	4035	broad.mit.edu	37	chr12	57588464	57588464	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggatgactgtgaacatggcGaggacgagacccactgcagt	12	6	14	9	2	0	3	0	2	0	1	0	7	0	5	1	3	2	1	1	3	1	0			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:57588464G>A	ENST00000243077.3	+	50	8639	c.8173G>A	c.(8173-8175)Gag>Aag	p.E2725K		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2725	LDL-receptor class A 15.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAACATGGCGAGGACGAGAC	0.597													A	57588464	G	A	57588464	3	1	471	1	0	0	0	0	1	0	0	0	9021	1059	37	1	8371	1	LRP1	12	57588464	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08	866651	57588464	76263431	34	44372											
TMEM19	55266	broad.mit.edu	37	chr12	72094692	72094694	+	In_Frame_Del	DEL	AAC	AAC	-																															cagggaaacccattcttgatAacaacgcagtgaatctgttt																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:72094692_72094694delAAC	ENST00000266673.5	+	6	1522_1524	c.928_930delAAC	c.(928-930)aacdel	p.N311del		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	311						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		CATTCTTGATAACAACGCAGTGA	0.463													-	72094694	AAC	-	72094692	7	5	471	1	0	1	0	1	0	0	0	0	16213	362	13	0	950	0	TMEM19	12	72094692	In_Frame_Del	DEL	AAC	TCGA-FG-5964-01A-11D-1705-08	14506228	72094692	61757203	35	44373											
C12orf65	91574	broad.mit.edu	37	chr12	123738357	123738359	+	In_Frame_Del	DEL	AAG	AAG	-																															ctccggtccagatggcaggcAagaaggactaccctgcactg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr12:123738357_123738359delAAG	ENST00000253233.1	+	2	780_782	c.136_138delAAG	c.(136-138)aagdel	p.K47del	C12orf65_ENST00000429587.2_In_Frame_Del_p.K47del|RP11-282O18.3_ENST00000543217.2_RNA|RP11-282O18.3_ENST00000541002.3_RNA|C12orf65_ENST00000366329.2_In_Frame_Del_p.K47del	NM_152269.4	NP_689482.1	Q9H3J6	CL065_HUMAN	chromosome 12 open reading frame 65	47						mitochondrion	translation release factor activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000595)|Epithelial(86;0.00199)		GATGGCAGGCAAGAAGGACTACC	0.557													-	123738359	AAG	-	123738357	7	5	471	1	0	1	0	1	0	0	0	0	1721	131	5	0	138	0	C12orf65	12	123738357	In_Frame_Del	DEL	AAG	TCGA-FG-5964-01A-11D-1705-08	51643665	123738357	10113538	36	44374											
UBL3	5412	broad.mit.edu	37	chr13	30341404	30341406	+	In_Frame_Del	DEL	ACA	ACA	-																															gacagtgtttacaggattacAcaacaattactctctccagt																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr13:30341404_30341406delACA	ENST00000380680.4	-	5	1485_1487	c.340_342delTGT	c.(340-342)tgtdel	p.C114del		NM_007106.3	NP_009037.1	O95164	UBL3_HUMAN	ubiquitin-like 3	114						intracellular|plasma membrane				large_intestine(3)|lung(1)	4		Lung SC(185;0.0281)		all cancers(112;0.0598)|GBM - Glioblastoma multiforme(144;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.147)		ACAGGATTACACAACAATTACTC	0.433													-	30341406	ACA	-	30341404	7	5	471	1	0	1	0	1	0	0	0	0	16988	157	6	0	15	0	UBL3	13	30341404	In_Frame_Del	DEL	ACA	TCGA-FG-5964-01A-11D-1705-08		30341404	84828474	37	44375											
POTEG	404785	broad.mit.edu	37	chr14	19553812	19553812	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcgctttcatggagccgagGtaccacgtccgtcgagaaga	10	7	13	11	5	1	2	1	0	0	2	3	5	2	3	3	2	3	2	3	2	2	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:19553812G>A	ENST00000409832.3	+	1	448	c.396G>A	c.(394-396)agG>agA	p.R132R		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	132										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TGGAGCCGAGGTACCACGTCC	0.592													A	19553812	G	A	19553812	2	1	471	1	0	0	0	0	0	0	0	1	12343	1252	44	2		2	POTEG	14	19553812	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08		19553812	87795728	38	44376											
TINF2	26277	broad.mit.edu	37	chr14	24709491	24709493	+	In_Frame_Del	DEL	TAA	TAA	-																															ggcttcctggccctaggaggTaataatgatagtctcagggg																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:24709491_24709493delTAA	ENST00000267415.7	-	7	1446_1448	c.1105_1107delTTA	c.(1105-1107)ttadel	p.L369del	TINF2_ENST00000399423.4_3'UTR|TINF2_ENST00000540705.1_In_Frame_Del_p.L334del|TINF2_ENST00000558566.1_3'UTR|TINF2_ENST00000538777.1_3'UTR	NM_001099274.1	NP_001092744.1	Q9BSI4	TINF2_HUMAN	TERF1 (TRF1)-interacting nuclear factor 2	369					negative regulation of epithelial cell proliferation|negative regulation of protein ADP-ribosylation|negative regulation of telomere maintenance via telomerase|positive regulation of telomere maintenance|protein localization to chromosome, telomeric region|telomere assembly|telomere maintenance via telomere lengthening	nuclear telomere cap complex|nucleoplasm|perinucleolar chromocenter	protein binding|telomeric DNA binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|prostate(1)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(265;0.0185)		CCCTAGGAGGTAATAATGATAGT	0.498									Congenital Dyskeratosis;Ataxia Pancytopenia syndrome				-	24709493	TAA	-	24709491	7	5	471	1	0	1	0	1	0	0	0	0	16023	1635	57	0	260	0	TINF2	14	24709491	In_Frame_Del	DEL	TAA	TCGA-FG-5964-01A-11D-1705-08	5155679	24709491	82640049	39	44377											
KTN1	3895	broad.mit.edu	37	chr14	56079020	56079020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgtacctcgagactttaAattatcagatgctttggcag	11	13	10	7	1	1	2	1	0	0	2	2	4	1	2	1	1	2	3	1	1	4	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:56079020A>G	ENST00000416613.1	+	1	326	c.254A>G	c.(253-255)aAa>aGa	p.K85R	KTN1_ENST00000395309.3_Missense_Mutation_p.K85R|KTN1_ENST00000395314.3_Missense_Mutation_p.K85R|KTN1_ENST00000395311.1_Missense_Mutation_p.K85R|KTN1_ENST00000438792.2_Missense_Mutation_p.K85R|KTN1_ENST00000395308.1_Missense_Mutation_p.K85R|KTN1_ENST00000413890.2_Missense_Mutation_p.K85R			Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	85					microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						CGAGACTTTAAATTATCAGAT	0.358			T	RET	papillary thryoid								G	56079020	A	G	56079020	3	3	471	1	0	0	0	0	1	0	0	0	8644	14	1	3	256	3	KTN1	14	56079020	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	31369529	56079020	51270520	40	44378											
LTBP2	4053	broad.mit.edu	37	chr14	75017767	75017767	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagctgtgttctcacCtgtccgttcacagtgttcag	6	12	11	12	1	3	1	3	0	1	1	5	1	4	1	3	1	1	4	3	1	0	3			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:75017767C>A	ENST00000261978.4	-	7	2072	c.1686G>T	c.(1684-1686)caG>caT	p.Q562H	LTBP2_ENST00000556690.1_Splice_Site_p.Q562H|LTBP2_ENST00000557425.1_5'UTR	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	562	TB 1.				protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GTGTTCTCACCTGTCCGTTCA	0.612													A	75017767	C	A	75017767	5	1	471	1	0	0	0	0	0	0	1	0	9144	695	24	4	3899	4	LTBP2	14	75017767	Splice_Site	SNP	C	TCGA-FG-5964-01A-11D-1705-08	18938747	75017767	32331773	41	44379											
KLC1	3831	broad.mit.edu	37	chr14	104143843	104143843	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacgttagaagaagctgctAtgaggtctcgtaaacaggtt	14	10	11	6	2	1	3	0	1	1	2	2	3	1	3	0	2	4	5	0	2	7	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr14:104143843A>G	ENST00000389744.4	+	12	1740	c.1471A>G	c.(1471-1473)Atg>Gtg	p.M491V	KLC1_ENST00000348520.6_Missense_Mutation_p.M491V|KLC1_ENST00000246489.7_Missense_Mutation_p.M491V|KLC1_ENST00000380038.3_Missense_Mutation_p.M491V|KLC1_ENST00000553286.1_Missense_Mutation_p.M491V|KLC1_ENST00000557450.1_Missense_Mutation_p.M491V|KLC1_ENST00000334553.6_Missense_Mutation_p.M491V|RP11-73M18.2_ENST00000472726.2_Missense_Mutation_p.M663V|KLC1_ENST00000347839.6_Missense_Mutation_p.M491V|KLC1_ENST00000555836.1_Missense_Mutation_p.M491V|KLC1_ENST00000452929.2_Missense_Mutation_p.M491V|KLC1_ENST00000554280.1_Missense_Mutation_p.M491V|KLC1_ENST00000445352.4_Missense_Mutation_p.M489V|KLC1_ENST00000557575.1_Missense_Mutation_p.M491V			Q07866	KLC1_HUMAN	kinesin light chain 1	491					blood coagulation|microtubule-based movement|stress granule disassembly	cytosol|kinesin complex|microtubule	microtubule motor activity|protein binding		KLC1/ALK(2)	NS(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	12		Melanoma(154;0.155)|all_epithelial(191;0.19)				AGAAGCTGCTATGAGGTCTCG	0.398													G	104143843	A	G	104143843	3	3	471	1	0	0	0	0	1	0	0	0	8391	449	16	3	1513	3	KLC1	14	104143843	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08	29126076	104143843	3205697	42	44380											
MYO5A	4644	broad.mit.edu	37	chr15	52720613	52720613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacaatacgtataaataaGtttggaatcaataaagcgga	19	9	7	6	2	1	0	1	0	0	0	1	2	1	2	1	2	2	2	1	2	10	6			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr15:52720613G>C	ENST00000399231.3	-	3	535	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	MYO5A_ENST00000356338.6_Missense_Mutation_p.L98V|MYO5A_ENST00000553916.1_Missense_Mutation_p.L98V|MYO5A_ENST00000358212.6_Missense_Mutation_p.L98V|MYO5A_ENST00000399233.2_Missense_Mutation_p.L98V	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	98	Myosin head-like.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		GTATAAATAAGTTTGGAATCA	0.408													C	52720613	G	C	52720613	3	2	471	1	0	0	0	0	1	0	0	0	10154	1029	36	4	5431	4	MYO5A	15	52720613	Missense_Mutation	SNP	G	TCGA-FG-5964-01A-11D-1705-08		52720613	49810779	43	44381											
CLCN7	1186	broad.mit.edu	37	chr16	1510460	1510460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcccacgagcacgaaggCggcgttcagcgtggcccaca	10	3	14	14	5	1	1	1	0	0	1	1	3	1	1	2	3	3	2	2	3	1	1			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:1510460C>T	ENST00000382745.4	-	6	1158	c.553G>A	c.(553-555)Gcc>Acc	p.A185T	CLCN7_ENST00000448525.1_Missense_Mutation_p.A161T|CLCN7_ENST00000262318.8_Missense_Mutation_p.A161T	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	185						integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				AGCACGAAGGCGGCGTTCAGC	0.597													T	1510460	C	T	1510460	3	4	471	1	0	0	0	0	1	0	0	0	3499	768	27	1	1944	1	CLCN7	16	1510460	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		1510460	88844293	44	44382											
CDH15	1013	broad.mit.edu	37	chr16	89261356	89261356	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgacggctcggtggcGgggacgctgagctccatcct	5	7	18	11	4	0	2	0	2	0	0	3	4	2	3	2	6	1	3	2	6	0	0			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr16:89261356G>A	ENST00000289746.2	+	14	2303	c.2238G>A	c.(2236-2238)gcG>gcA	p.A746A		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	746					adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GCTCGGTGGCGGGGACGCTGA	0.632													A	89261356	G	A	89261356	2	1	471	1	0	0	0	0	0	0	0	1	3130	1103	39	1		1	CDH15	16	89261356	Silent	SNP	G	TCGA-FG-5964-01A-11D-1705-08	87750896	89261356	1093397	45	44383											
OR1A1	8383	broad.mit.edu	37	chr17	3119138	3119138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggttgacatcttcttctcatCggtaaccatccctaagatgc	9	13	7	12	1	3	2	1	1	3	1	6	2	4	2	2	2	2	2	2	2	2	5			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:3119138C>T	ENST00000304094.1	+	1	224	c.224C>T	c.(223-225)tCg>tTg	p.S75L		NM_014565.2	NP_055380.2	Q9P1Q5	OR1A1_HUMAN	olfactory receptor, family 1, subfamily A, member 1	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	23						TTCTTCTCATCGGTAACCATC	0.483													T	3119138	C	T	3119138	3	4	471	1	0	0	0	0	1	0	0	0	11025	893	31	1	226	1	OR1A1	17	3119138	Missense_Mutation	SNP	C	TCGA-FG-5964-01A-11D-1705-08		3119138	78076072	46	44384											
CCR10	2826	broad.mit.edu	37	chr17	40832563	40832563	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcctggacatcggcctTgtagcaaagctccggcagtg	9	7	14	11	2	0	0	0	0	0	0	2	2	1	1	3	4	2	4	3	4	3	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:40832563T>C	ENST00000332438.4	-	2	116	c.97A>G	c.(97-99)Aag>Gag	p.K33E	CCR10_ENST00000591765.1_5'UTR|CTD-3193K9.4_ENST00000593139.1_RNA	NM_016602.2	NP_057686.2	P46092	CCR10_HUMAN	chemokine (C-C motif) receptor 10	33						integral to plasma membrane				lung(1)|ovary(1)|skin(1)	3		Breast(137;0.000153)		BRCA - Breast invasive adenocarcinoma(366;0.14)		ACATCGGCCTTGTAGCAAAGC	0.637													C	40832563	T	C	40832563	3	2	471	1	0	0	0	0	1	0	0	0	2970	1821	63	3	995	3	CCR10	17	40832563	Missense_Mutation	SNP	T	TCGA-FG-5964-01A-11D-1705-08	37713425	40832563	40362647	47	44385											
BCAS3	54828	broad.mit.edu	37	chr17	58967054	58967054	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgccatttgaaatttttcAggctgctatccatgtccagg	9	14	9	9	0	1	1	1	1	0	0	3	1	3	1	3	2	2	2	3	2	2	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr17:58967054A>G	ENST00000589222.1	+	10	729		c.e10-1		BCAS3_ENST00000408905.3_Splice_Site|BCAS3_ENST00000407086.3_Splice_Site|BCAS3_ENST00000585744.1_Splice_Site|BCAS3_ENST00000588874.1_Splice_Site|BCAS3_ENST00000588462.1_Splice_Site|BCAS3_ENST00000390652.5_Splice_Site			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3							nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			GAAATTTTTCAGGCTGCTATC	0.398													G	58967054	A	G	58967054	5	3	471	1	0	0	0	0	0	0	1	0	1357	202	7	3	694	3	BCAS3	17	58967054	Splice_Site	SNP	A	TCGA-FG-5964-01A-11D-1705-08	18134491	58967054	22228156	48	44386											
PAF1	54623	broad.mit.edu	37	chr19	39879756	39879758	+	In_Frame_Del	DEL	TCT	TCT	-																															tttctgggcatcctcaaaagTcttctcaatggctgtgatct																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:39879756_39879758delTCT	ENST00000221265.3	-	7	872_874	c.542_544delAGA	c.(541-546)aagact>act	p.K181del	PAF1_ENST00000595564.1_In_Frame_Del_p.K171del|PAF1_ENST00000221266.7_In_Frame_Del_p.K171del	NM_019088.3	NP_061961.2	Q8N7H5	PAF1_HUMAN	Paf1, RNA polymerase II associated factor, homolog (S. cerevisiae)	181					histone H2B ubiquitination|histone monoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|urinary_tract(2)	17	all_cancers(60;9.14e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;1.88e-06)|Ovarian(47;0.0512)		Epithelial(26;9.6e-28)|all cancers(26;9.14e-25)|Lung(45;0.000168)|LUSC - Lung squamous cell carcinoma(53;0.000199)			TCCTCAAAAGTCTTCTCAATGGC	0.483													-	39879758	TCT	-	39879756	7	5	471	1	0	1	0	1	0	0	0	0	11459	1667	58	0	1083	0	PAF1	19	39879756	In_Frame_Del	DEL	TCT	TCGA-FG-5964-01A-11D-1705-08		39879756	19249227	49	44387											
CIC	23152	broad.mit.edu	37	chr19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-																															ctgaagaagacctttgactcTgtggacaagtgagcatgggc																										TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr19:42797980_42797981delTG	ENST00000572681.2	+	17	6821_6822	c.6753_6754delTG	c.(6751-6756)tctgtgfs	p.V2252fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V1343fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V1345fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTTTGACTCTGTGGACAAGTG	0.693			"Mis, F, S"		oligodendroglioma								-	42797981	TG	-	42797980	7	5	471	1	0	1	0	1	0	0	0	0	3454	1567	55	0	4094	0	CIC	19	42797980	Frame_Shift_Del	DEL	TG	TCGA-FG-5964-01A-11D-1705-08	2918224	42797980	16331003	50	44388											
NCAPH2	29781	broad.mit.edu	37	chr22	50956005	50956005	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggatgtgcttctctctcaGgcgggccaagcagctctctt	5	11	12	13	2	3	0	1	0	3	0	6	1	3	1	1	3	3	3	1	3	1	2			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chr22:50956005G>A	ENST00000395701.3	+	4	360		c.e4-1		NCAPH2_ENST00000299821.11_Splice_Site|NCAPH2_ENST00000420993.2_Splice_Site|NCAPH2_ENST00000395698.3_Splice_Site			Q6IBW4	CNDH2_HUMAN	non-SMC condensin II complex, subunit H2						chromosome condensation	chromosome|nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(3)|lung(10)|ovary(1)|prostate(2)|skin(3)|stomach(1)	24		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.212)		TTCTCTCTCAGGCGGGCCAAG	0.632													A	50956005	G	A	50956005	5	1	471	1	0	0	0	0	0	0	1	0	10286	1014	35	2	280	2	NCAPH2	22	50956005	Splice_Site	SNP	G	TCGA-FG-5964-01A-11D-1705-08		50956005	348561	51	44389											
SPANXD	64648	broad.mit.edu	37	chrX	140785767	140785767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgtagcgaaccactagtAtggtcgaggactcagatgtt	10	11	11	9	2	1	1	1	0	0	1	3	4	2	2	2	2	2	3	2	2	4	4			TCGA-FG-5964-01A-11D-1705-08	TCGA-FG-5964-10A-01D-1705-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6888be2-4517-41e4-a801-9c915f24e737	96d57c40-fcc5-4dc4-857c-b2d334627206	g.chrX:140785767A>G	ENST00000370515.3	-	2	482	c.149T>C	c.(148-150)aTa>aCa	p.I50T		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AACCACTAGTATGGTCGAGGA	0.498													G	140785767	A	G	140785767	3	3	471	1	0	0	0	0	1	0	0	0	15084	449	16	3	148	3	SPANXD	23	140785767	Missense_Mutation	SNP	A	TCGA-FG-5964-01A-11D-1705-08		140785767	14484793	52	44390											
CAMTA1	23261	broad.mit.edu	37	chr1	7723708	7723708	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccatcagcagcgggctcaaCagcgacccggacatggtgga	10	5	13	13	3	2	0	2	0	0	0	3	3	3	2	2	4	4	2	2	4	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:7723708C>G	ENST00000303635.7	+	9	1308	c.1101C>G	c.(1099-1101)aaC>aaG	p.N367K	CAMTA1_ENST00000439411.2_Missense_Mutation_p.N367K	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	367					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	calmodulin binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		GCGGGCTCAACAGCGACCCGG	0.647			T	WWTR1	epitheliod hemangioendothelioma								G	7723708	C	G	7723708	3	3	472	1	0	0	0	0	1	0	0	0	2639	477	17	4	1135	4	CAMTA1	1	7723708	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		7723708	241526913	1	44391											
EYA3	2140	broad.mit.edu	37	chr1	28339787	28339787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtactgattctgaccaagaaTagtataggtgggataatcct	13	12	10	6	0	1	3	0	2	1	1	2	4	2	4	2	2	1	2	2	2	7	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:28339787T>C	ENST00000373871.3	-	9	844	c.604A>G	c.(604-606)Att>Gtt	p.I202V	EYA3_ENST00000373864.1_Missense_Mutation_p.I46V|EYA3_ENST00000471498.1_5'UTR|EYA3_ENST00000373863.3_Missense_Mutation_p.I156V|EYA3_ENST00000545175.1_Missense_Mutation_p.I149V|EYA3_ENST00000540618.1_Missense_Mutation_p.I156V|EYA3_ENST00000436342.2_Missense_Mutation_p.I76V	NM_001282561.1|NM_001282562.1	NP_001269490.1|NP_001269491.1	Q99504	EYA3_HUMAN	eyes absent homolog 3 (Drosophila)	202					anatomical structure morphogenesis|double-strand break repair|histone dephosphorylation|multicellular organismal development|positive regulation of DNA repair|regulation of transcription, DNA-dependent|response to ionizing radiation|transcription, DNA-dependent|visual perception	cytoplasm	metal ion binding|protein binding|protein tyrosine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	15		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000432)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0484)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;2.8e-06)|STAD - Stomach adenocarcinoma(196;0.00364)|KIRC - Kidney renal clear cell carcinoma(1967;0.00378)|BRCA - Breast invasive adenocarcinoma(304;0.00718)|READ - Rectum adenocarcinoma(331;0.0642)		TGACCAAGAATAGTATAGGTG	0.453													C	28339787	T	C	28339787	3	2	472	1	0	0	0	0	1	0	0	0	5372	1406	49	3	1157	3	EYA3	1	28339787	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	20616079	28339787	220910834	2	44392											
SHC1	6464	broad.mit.edu	37	chr1	154942867	154942867	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccccaggcagaggaggcaGgatgggccccagggatgaag	10	3	18	10	0	0	2	0	1	0	1	1	5	1	5	4	6	0	2	4	6	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:154942867G>C	ENST00000448116.2	-	1	356	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	SHC1_ENST00000368453.4_Intron|SHC1_ENST00000368445.5_Missense_Mutation_p.L46V|SHC1_ENST00000368450.1_Intron|SHC1_ENST00000368449.4_Intron|SHC1_ENST00000606391.1_Intron	NM_001130040.1	NP_001123512.1	P29353	SHC1_HUMAN	SHC (Src homology 2 domain containing) transforming protein 1	46					activation of MAPK activity|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|positive regulation of DNA replication|Ras protein signal transduction|regulation of epidermal growth factor receptor activity|regulation of growth	cytosol|mitochondrial matrix|Shc-EGFR complex	epidermal growth factor receptor binding|insulin receptor binding|insulin-like growth factor receptor binding|phospholipid binding|protein binding|transmembrane receptor protein tyrosine kinase adaptor activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	20	all_epithelial(22;4.9e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			AGAGGAGGCAGGATGGGCCCC	0.662													C	154942867	G	C	154942867	3	2	472	1	0	0	0	0	1	0	0	0	14364	991	35	4	1666	4	SHC1	1	154942867	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	126603080	154942867	94307754	3	44393											
APCS	325	broad.mit.edu	37	chr1	159557756	159557756	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtcctcaccagcctcctGgaagcctttgctcacacagg	7	10	8	16	0	3	0	2	0	1	0	5	1	5	1	5	2	3	1	5	2	1	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:159557756G>A	ENST00000255040.2	+	1	142	c.45G>A	c.(43-45)ctG>ctA	p.L15L		NM_001639.3	NP_001630.1	P02743	SAMP_HUMAN	amyloid P component, serum	15					acute-phase response|chaperone-mediated protein complex assembly|protein folding	extracellular space	metal ion binding|sugar binding|unfolded protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_hematologic(112;0.0429)					CCAGCCTCCTGGAAGCCTTTG	0.473													A	159557756	G	A	159557756	2	1	472	1	0	0	0	0	0	0	0	1	769	1335	47	2		2	APCS	1	159557756	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	4614889	159557756	89692865	4	44394											
OBSCN	84033	broad.mit.edu	37	chr1	228504445	228504445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggagcctctgaaaaacGcggcggtccgggccggcgca	7	5	15	14	6	1	1	0	1	1	0	3	2	3	2	4	5	2	1	4	5	2	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr1:228504445G>A	ENST00000570156.2	+	62	16266	c.16192G>A	c.(16192-16194)Gcg>Acg	p.A5398T	OBSCN_ENST00000422127.1_Missense_Mutation_p.A4441T|OBSCN_ENST00000366707.4_Missense_Mutation_p.A2075T|OBSCN_ENST00000284548.11_Missense_Mutation_p.A4441T|OBSCN_ENST00000366709.4_Missense_Mutation_p.A1560T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	4441	Ig-like 51.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TCTGAAAAACGCGGCGGTCCG	0.672													A	228504445	G	A	228504445	3	1	472	1	0	0	0	0	1	0	0	0	10888	1087	38	1	13519	1	OBSCN	1	228504445	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	68946689	228504445	20746176	5	44395											
PDIA6	10130	broad.mit.edu	37	chr2	10928839	10928839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccccacattttcttttTgtatttgtctgccaacttca	7	19	3	12	0	3	0	1	0	2	0	3	0	3	0	3	0	3	1	3	0	3	8			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:10928839T>C	ENST00000404371.2	-	12	1475	c.1138A>G	c.(1138-1140)Aaa>Gaa	p.K380E	PDIA6_ENST00000272227.3_Missense_Mutation_p.K328E|PDIA6_ENST00000404824.2_Missense_Mutation_p.K376E|PDIA6_ENST00000381611.4_Missense_Mutation_p.K333E|PDIA6_ENST00000540494.1_Missense_Mutation_p.K325E	NM_001282704.1	NP_001269633.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	328					cell redox homeostasis|glycerol ether metabolic process|protein folding	endoplasmic reticulum lumen|ER-Golgi intermediate compartment|melanosome|plasma membrane	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		ATTTTCTTTTTGTATTTGTCT	0.383													C	10928839	T	C	10928839	3	2	472	1	0	0	0	0	1	0	0	0	11748	1821	63	3	356	3	PDIA6	2	10928839	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08		10928839	232270534	6	44396											
EPCAM	4072	broad.mit.edu	37	chr2	47613720	47613720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtttcagataaaggagAtgggtgagatgcatagggaa	13	10	14	4	0	1	3	1	1	0	3	2	6	2	4	1	3	1	2	1	3	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:47613720A>G	ENST00000263735.4	+	9	1271	c.913A>G	c.(913-915)Atg>Gtg	p.M305V	EPCAM_ENST00000405271.1_Missense_Mutation_p.M333V	NM_002354.2	NP_002345.2	P16422	EPCAM_HUMAN	epithelial cell adhesion molecule	305					positive regulation of cell proliferation	apical plasma membrane|basolateral plasma membrane|integral to membrane|lateral plasma membrane|tight junction	protein binding	p.0?(2)|p.?(1)		endometrium(3)|large_intestine(1)|liver(2)|lung(7)|skin(1)|stomach(1)	15						GATAAAGGAGATGGGTGAGAT	0.279													G	47613720	A	G	47613720	3	3	472	1	0	0	0	0	1	0	0	0	5203	333	12	3	947	3	EPCAM	2	47613720	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	36684881	47613720	195585653	7	44397											
THSD7B	80731	broad.mit.edu	37	chr2	138425373	138425373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaatttgggtttatggcGtttcaggtggcgcttttctc	7	17	11	6	2	2	0	1	0	1	0	3	0	2	0	0	4	0	3	0	4	4	7			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:138425373G>A	ENST00000409968.1	+	27	4859	c.4681G>A	c.(4681-4683)Gtt>Att	p.V1561I	THSD7B_ENST00000272643.3_Missense_Mutation_p.V1564I|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1533I					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTTTATGGCGTTTCAGGTGG	0.343													A	138425373	G	A	138425373	3	1	472	1	0	0	0	0	1	0	0	0	15980	1145	40	1	4695	1	THSD7B	2	138425373	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	90811653	138425373	104774000	8	44398											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	472	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	70687739	209113112	34086261	9	44399											
CPS1	1373	broad.mit.edu	37	chr2	211525381	211525381	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgactatgttgcaattaaggTaacattttcaaaaatttatt	15	17	5	4	0	1	1	1	1	0	0	1	1	1	1	0	1	2	3	0	1	7	9	rs113036168		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr2:211525381T>A	ENST00000233072.5	+	32	4123		c.e32+2		CPS1_ENST00000451903.2_Splice_Site|CPS1_ENST00000430249.2_Splice_Site	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial						carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		GCAATTAAGGTAACATTTTCA	0.318													A	211525381	T	A	211525381	5	1	472	1	0	0	0	0	0	0	1	0	3854	1652	57	5	4077	5	CPS1	2	211525381	Splice_Site	SNP	T	TCGA-FG-5965-01B-11D-1893-08	2412269	211525381	31673992	10	44400											
CACNA2D2	9254	broad.mit.edu	37	chr3	50417431	50417431	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccatgtctttgggtgaCgaggccccctggatatacct	8	11	11	11	1	1	2	0	2	1	0	1	4	1	3	4	3	1	0	4	3	2	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:50417431C>T	ENST00000435965.1	-	9	1034	c.861G>A	c.(859-861)tcG>tcA	p.S287S	CACNA2D2_ENST00000479441.1_Silent_p.S287S|CACNA2D2_ENST00000360963.3_Silent_p.S218S|CACNA2D2_ENST00000429770.1_Silent_p.S287S|CACNA2D2_ENST00000423994.2_Silent_p.S287S|CACNA2D2_ENST00000395083.1_Silent_p.S287S|CACNA2D2_ENST00000424201.2_Silent_p.S287S|CACNA2D2_ENST00000266039.3_Silent_p.S287S			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	287					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	CTTTGGGTGACGAGGCCCCCT	0.567													T	50417431	C	T	50417431	2	4	472	1	0	0	0	0	0	0	0	1	2575	523	19	1		1	CACNA2D2	3	50417431	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08		50417431	147604999	11	44401											
TRH	7200	broad.mit.edu	37	chr3	129695936	129695936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgtgggccccagggagcCtatggtcaagcgggccttct	5	8	14	14	1	2	0	1	0	1	0	2	1	2	1	5	4	2	0	5	4	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr3:129695936C>T	ENST00000302649.3	+	3	1133	c.606C>T	c.(604-606)gcC>gcT	p.A202A	TRH_ENST00000507066.1_Silent_p.A198A	NM_007117.3	NP_009048.1	P20396	TRH_HUMAN	thyrotropin-releasing hormone	202					cell-cell signaling|hormone-mediated signaling pathway	extracellular region|soluble fraction	neuropeptide hormone activity|thyrotropin-releasing hormone activity			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)	14						CCCAGGGAGCCTATGGTCAAG	0.652													T	129695936	C	T	129695936	2	4	472	1	0	0	0	0	0	0	0	1	16579	668	24	2		2	TRH	3	129695936	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08	79278505	129695936	68326494	12	44402											
PPP1R10	5514	broad.mit.edu	37	chr6	30576891	30576891	+	Frame_Shift_Del	DEL	T	T	-																															tgaacgggtctgcaggagaaTgttcaagtaagtgcatcgac																										TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:30576891delT	ENST00000376511.2	-	4	709	c.157delA	c.(157-159)attfs	p.I53fs		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	53	Interaction with TOX4 (By similarity).				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						TGCAGGAGAATGTTCAAGTAA	0.468													-	30576891	T	-	30576891	7	5	472	1	0	1	0	1	0	0	0	0	12434	1464	51	0	2733	0	PPP1R10	6	30576891	Frame_Shift_Del	DEL	T	TCGA-FG-5965-01B-11D-1893-08		30576891	140538176	13	44403											
MTO1	25821	broad.mit.edu	37	chr6	74183326	74183326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctaaacaagcatataccGgacaatccatccataccatt	16	10	3	12	1	1	0	0	0	1	0	3	1	3	1	4	1	4	1	4	1	7	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:74183326G>A	ENST00000498286.1	+	4	1051	c.774G>A	c.(772-774)ccG>ccA	p.P258P	MTO1_ENST00000370300.4_Silent_p.P258P|MTO1_ENST00000415954.2_Silent_p.P258P|MTO1_ENST00000370305.1_Silent_p.P184P			Q9Y2Z2	MTO1_HUMAN	mitochondrial tRNA translation optimization 1	258					tRNA processing	mitochondrion	flavin adenine dinucleotide binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)	27						AGCATATACCGGACAATCCAT	0.423													A	74183326	G	A	74183326	2	1	472	1	0	0	0	0	0	0	0	1	10029	1103	39	1		1	MTO1	6	74183326	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	43606435	74183326	96931741	14	44404											
MYO6	4646	broad.mit.edu	37	chr6	76602319	76602319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagttctggagcaggagCgcagggaccgggagctggcc	9	4	18	10	2	1	0	0	0	1	0	1	4	1	4	2	5	4	5	2	5	1	1	rs143152727		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:76602319C>T	ENST00000369981.3	+	28	3298	c.3019C>T	c.(3019-3021)Cgc>Tgc	p.R1007C	MYO6_ENST00000369977.3_Missense_Mutation_p.R1007C|MYO6_ENST00000369975.1_Missense_Mutation_p.R1007C|MYO6_ENST00000369985.4_Missense_Mutation_p.R1007C			Q9UM54	MYO6_HUMAN	myosin VI	1007	Glu-rich.				actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGAGCAGGAGCGCAGGGACCG	0.627													T	76602319	C	T	76602319	3	4	472	1	0	0	0	0	1	0	0	0	10157	768	27	1	3125	1	MYO6	6	76602319	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	2418993	76602319	94512748	15	44405											
BVES	11149	broad.mit.edu	37	chr6	105573323	105573323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggttttatcctctgcagcaTaagtttggccctttttcaag	8	16	8	9	0	2	0	1	0	1	0	3	0	3	0	2	2	2	4	2	2	3	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:105573323T>C	ENST00000314641.5	-	4	698	c.482A>G	c.(481-483)tAt>tGt	p.Y161C	BVES_ENST00000336775.5_Missense_Mutation_p.Y161C|BVES_ENST00000446408.2_Missense_Mutation_p.Y161C	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	161					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity			NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				CTCTGCAGCATAAGTTTGGCC	0.413													C	105573323	T	C	105573323	3	2	472	1	0	0	0	0	1	0	0	0	1585	1406	49	3	620	3	BVES	6	105573323	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	28971004	105573323	65541744	16	44406											
FUCA2	2519	broad.mit.edu	37	chr6	143823598	143823598	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcccatttatgtggcaaaAgatgtcctgggttataacga	11	14	9	7	1	0	1	0	0	0	1	2	2	2	1	2	2	1	2	2	2	5	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:143823598A>G	ENST00000002165.6	-	4	912	c.857T>C	c.(856-858)cTt>cCt	p.L286P	RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron|FUCA2_ENST00000438118.2_Intron	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		ATGTGGCAAAAGATGTCCTGG	0.458													G	143823598	A	G	143823598	3	3	472	1	0	0	0	0	1	0	0	0	6147	72	3	3	562	3	FUCA2	6	143823598	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	38250275	143823598	27291469	17	44407											
QKI	9444	broad.mit.edu	37	chr6	163984476	163984476	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgccttttctcttgcagCaacagcccaggctgctccaa	7	11	7	16	0	1	0	0	0	1	0	3	0	2	0	4	1	6	4	4	1	2	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr6:163984476C>G	ENST00000361752.3	+	6	1210	c.659C>G	c.(658-660)gCa>gGa	p.A220G	QKI_ENST00000453779.2_Missense_Mutation_p.A220G|QKI_ENST00000424802.3_Splice_Site_p.P212R|QKI_ENST00000275262.7_Missense_Mutation_p.A220G|QKI_ENST00000361195.2_Splice_Site_p.P212R|QKI_ENST00000392127.2_Missense_Mutation_p.A220G	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	220					mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding			central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		TCTCTTGCAGCAACAGCCCAG	0.507													G	163984476	C	G	163984476	3	3	472	1	0	0	0	0	1	0	0	0	12961	710	25	4	681	4	QKI	6	163984476	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	20160878	163984476	7130591	18	44408											
RP1L1	94137	broad.mit.edu	37	chr8	10465064	10465064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccccttctgcctctggggCctctacaccttctaactctg	4	13	6	18	0	5	0	0	0	5	0	6	0	6	0	5	2	3	0	5	2	2	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:10465064C>T	ENST00000382483.3	-	4	6767	c.6544G>A	c.(6544-6546)Gcc>Acc	p.A2182T		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2182					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCCTCTGGGGCCTCTACACCT	0.612													T	10465064	C	T	10465064	3	4	472	1	0	0	0	0	1	0	0	0	13624	739	26	2	662	2	RP1L1	8	10465064	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		10465064	135898958	19	44409											
LPL	4023	broad.mit.edu	37	chr8	19811731	19811731	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttacacacattcaccagAgggtcccctggtcgaagcat	10	9	9	13	1	2	1	1	0	1	1	4	2	3	1	3	2	2	1	3	2	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:19811731A>C	ENST00000311322.8	+	5	1112	c.642A>C	c.(640-642)agA>agC	p.R214S		NM_000237.2	NP_000228.1	P06858	LIPL_HUMAN	lipoprotein lipase	214					fatty acid biosynthetic process|lipoprotein metabolic process|phospholipid metabolic process|positive regulation of cholesterol storage|positive regulation of sequestering of triglyceride|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	anchored to membrane|chylomicron|plasma membrane|very-low-density lipoprotein particle	heparin binding|lipoprotein lipase activity|phospholipase activity|receptor binding|triglyceride lipase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	36				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	Clofibrate(DB00636)|Gemfibrozil(DB01241)|Orlistat(DB01083)	CATTCACCAGAGGGTCCCCTG	0.488													C	19811731	A	C	19811731	3	2	472	1	0	0	0	0	1	0	0	0	8991	301	11	5	660	5	LPL	8	19811731	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	9346667	19811731	126552291	20	44410											
VPS13B	157680	broad.mit.edu	37	chr8	100454689	100454689	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgccttccccaagtacaAttgtatctggtgacattcct	8	13	7	13	0	1	1	0	1	1	0	3	1	3	1	5	1	2	2	5	1	4	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr8:100454689A>G	ENST00000395996.1	+	23	3382	c.3271A>G	c.(3271-3273)Att>Gtt	p.I1091V	VPS13B_ENST00000357162.2_Missense_Mutation_p.I1091V|VPS13B_ENST00000358544.2_Missense_Mutation_p.I1091V			Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1091					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCAAGTACAATTGTATCTGG	0.388													G	100454689	A	G	100454689	3	3	472	1	0	0	0	0	1	0	0	0	17292	101	4	3	3480	3	VPS13B	8	100454689	Missense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	80642958	100454689	45909333	21	44411											
OSTF1	26578	broad.mit.edu	37	chr9	77752522	77752522	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatatcgtccagttgctTctggcaaaaggtaaagtttg	11	12	11	7	1	1	1	0	0	1	1	3	1	2	1	1	2	1	6	1	2	5	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:77752522T>G	ENST00000346234.6	+	8	627	c.477T>G	c.(475-477)ctT>ctG	p.L159L		NM_012383.4	NP_036515.4	Q92882	OSTF1_HUMAN	osteoclast stimulating factor 1	159			L -> F (in dbSNP:rs17850197).		ossification|signal transduction	cytoplasm	identical protein binding			endometrium(1)|skin(1)	2						TCCAGTTGCTTCTGGCAAAAG	0.388													G	77752522	T	G	77752522	2	3	472	1	0	0	0	0	0	0	0	1	11373	1770	62	5		5	OSTF1	9	77752522	Silent	SNP	T	TCGA-FG-5965-01B-11D-1893-08		77752522	63460909	22	44412											
ASTN2	23245	broad.mit.edu	37	chr9	119770407	119770407	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgctcacaggcatctgTcgtcctttgtccacagaggt	7	11	11	12	1	2	1	1	0	1	1	5	2	4	1	2	2	2	3	2	2	0	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr9:119770407T>C	ENST00000313400.4	-	7	1655	c.1555A>G	c.(1555-1557)Aca>Gca	p.T519A	ASTN2_ENST00000361477.3_5'UTR|ASTN2_ENST00000373996.3_Missense_Mutation_p.T519A|ASTN2_ENST00000361209.2_Missense_Mutation_p.T468A			O75129	ASTN2_HUMAN	astrotactin 2	519	EGF-like 1.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						CAGGCATCTGTCGTCCTTTGT	0.577													C	119770407	T	C	119770407	3	2	472	1	0	0	0	0	1	0	0	0	1070	1667	58	3	2764	3	ASTN2	9	119770407	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	42017885	119770407	21443024	23	44413											
ACBD5	91452	broad.mit.edu	37	chr10	27524038	27524038	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccatttatatcttccaatAggatcccaaaatccaggcct	13	12	4	12	0	1	0	0	0	1	0	4	1	4	1	5	2	1	0	5	2	7	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:27524038A>C	ENST00000396271.3	-	3	411	c.285T>G	c.(283-285)ccT>ccG	p.P95P	ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000375888.1_Silent_p.P93P|ACBD5_ENST00000375897.3_Intron|ACBD5_ENST00000375905.4_Silent_p.P60P|ACBD5_ENST00000476758.1_Intron	NM_001271512.1|NM_145698.3	NP_001258441.1|NP_663736.2	Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	93	ACB.				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATCTTCCAATAGGATCCCAAA	0.313													C	27524038	A	C	27524038	2	2	472	1	0	0	0	0	0	0	0	1	125	407	15	5		5	ACBD5	10	27524038	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08		27524038	108010709	24	44414											
WDR11	55717	broad.mit.edu	37	chr10	122664218	122664218	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataaccagcattattactgtGattcactgaaagcctgttta	13	14	6	8	0	1	2	1	2	0	0	1	2	1	2	2	0	4	2	2	0	5	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr10:122664218G>C	ENST00000263461.6	+	25	3334	c.3088G>C	c.(3088-3090)Gat>Cat	p.D1030H	WDR11_ENST00000604509.1_3'UTR	NM_018117.11	NP_060587.8	Q9BZH6	WDR11_HUMAN	WD repeat domain 11	1030						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(9)|prostate(2)|skin(2)|stomach(5)	38						TTATTACTGTGATTCACTGAA	0.418													C	122664218	G	C	122664218	3	2	472	1	0	0	0	0	1	0	0	0	17375	1290	45	4	3186	4	WDR11	10	122664218	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	95140180	122664218	12870529	25	44415											
OR51G1	79324	broad.mit.edu	37	chr11	4944710	4944710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgatggggttcataaggGgtggtaccagcagatacaca	13	8	14	6	0	1	3	1	1	0	2	1	3	1	3	1	5	3	3	1	5	3	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:4944710G>A	ENST00000321961.2	-	1	927	c.860C>T	c.(859-861)cCc>cTc	p.P287L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	287					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTTCATAAGGGGTGGTACCAG	0.453													A	4944710	G	A	4944710	3	1	472	1	0	0	0	0	1	0	0	0	11174	1232	43	2	107	2	OR51G1	11	4944710	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		4944710	130061806	26	44416											
P2RX3	5024	broad.mit.edu	37	chr11	57135524	57135524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaatggcagtgagtaccGcaccctcctgaaggcttttg	10	9	12	10	1	0	2	0	2	0	0	1	3	1	3	3	3	1	4	3	3	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:57135524G>A	ENST00000263314.2	+	9	918	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_002559.3	NP_002550.2	P56373	P2RX3_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 3	295					positive regulation of calcium ion transport into cytosol|positive regulation of calcium-mediated signaling	integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(15)|prostate(1)	26						AGTGAGTACCGCACCCTCCTG	0.577													A	57135524	G	A	57135524	3	1	472	1	0	0	0	0	1	0	0	0	11417	1087	38	1	918	1	P2RX3	11	57135524	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	52190814	57135524	77870992	27	44417											
MS4A1	931	broad.mit.edu	37	chr11	60230557	60230557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggatctatgcacccatctGtgtgactgtgtggtaccctc	7	12	11	11	0	2	1	0	1	2	0	3	2	2	2	2	2	2	2	2	2	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr11:60230557G>A	ENST00000534668.1	+	3	531	c.242G>A	c.(241-243)tGt>tAt	p.C81Y	MS4A1_ENST00000389939.2_Missense_Mutation_p.C81Y|MS4A1_ENST00000345732.4_Missense_Mutation_p.C81Y|MS4A1_ENST00000534503.1_3'UTR|MS4A1_ENST00000532073.1_Missense_Mutation_p.C81Y|MS4A1_ENST00000528313.1_Intron	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	81					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	GCACCCATCTGTGTGACTGTG	0.502													A	60230557	G	A	60230557	3	1	472	1	0	0	0	0	1	0	0	0	9930	1377	48	2	248	2	MS4A1	11	60230557	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	3095033	60230557	74775959	28	44418											
ANO2	57101	broad.mit.edu	37	chr12	5687543	5687543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcacgtaccgatatctttgGttcttacagcatccggccgt	7	12	10	12	4	2	0	0	0	2	0	3	1	3	0	3	3	3	4	3	3	3	5			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:5687543G>T	ENST00000356134.5	-	23	2449	c.2378C>A	c.(2377-2379)aCc>aAc	p.T793N	ANO2_ENST00000546188.1_Missense_Mutation_p.T793N|ANO2_ENST00000327087.8_Missense_Mutation_p.T792N	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	797						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						GATATCTTTGGTTCTTACAGC	0.552													T	5687543	G	T	5687543	3	4	472	1	0	0	0	0	1	0	0	0	697	1261	44	4	641	4	ANO2	12	5687543	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		5687543	128164352	29	44419											
LTBR	4055	broad.mit.edu	37	chr12	6494301	6494301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatctgccagctgtgccgcCcctgtgacccaggtgagtgg	5	8	13	15	1	1	2	0	2	1	0	1	2	1	2	6	2	3	1	6	2	0	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:6494301C>T	ENST00000228918.4	+	3	633	c.307C>T	c.(307-309)Ccc>Tcc	p.P103S	LTBR_ENST00000541102.1_5'UTR|LTBR_ENST00000546296.1_3'UTR|LTBR_ENST00000543190.1_5'UTR|LTBR_ENST00000539925.1_Missense_Mutation_p.P84S	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	103					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						GCTGTGCCGCCCCTGTGACCC	0.637													T	6494301	C	T	6494301	3	4	472	1	0	0	0	0	1	0	0	0	9147	623	22	2	317	2	LTBR	12	6494301	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	806758	6494301	127357594	30	44420											
FGD4	121512	broad.mit.edu	37	chr12	32791723	32791723	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctgtacatgtatggtgcCccccaggtatctaaaccaca	10	10	9	12	0	1	0	0	0	1	0	1	0	1	0	4	2	4	4	4	2	5	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:32791723C>G	ENST00000427716.2	+	16	2461	c.2037C>G	c.(2035-2037)gcC>gcG	p.A679A	FGD4_ENST00000525053.1_Silent_p.A791A|FGD4_ENST00000546442.1_Silent_p.A586A|FGD4_ENST00000534526.2_Silent_p.A816A|FGD4_ENST00000266482.3_Silent_p.A431A|FGD4_ENST00000531134.1_Silent_p.A764A	NM_139241.2	NP_640334.2	Q96M96	FGD4_HUMAN	FYVE, RhoGEF and PH domain containing 4	679	PH 2.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|filopodium|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	27	Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.204)					TGTATGGTGCCCCCCAGGTAT	0.502													G	32791723	C	G	32791723	2	3	472	1	0	0	0	0	0	0	0	1	5884	610	22	4		4	FGD4	12	32791723	Silent	SNP	C	TCGA-FG-5965-01B-11D-1893-08	26297422	32791723	101060172	31	44421											
SMARCC2	6601	broad.mit.edu	37	chr12	56565546	56565546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtgctcataacagggttgCccgactgactgaaggggatg	10	8	14	9	1	1	2	1	2	0	0	1	4	1	3	1	3	3	2	1	3	2	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr12:56565546C>T	ENST00000394023.3	-	21	2207	c.2102G>A	c.(2101-2103)gGc>gAc	p.G701D	SMARCC2_ENST00000347471.4_Missense_Mutation_p.G701D|SMARCC2_ENST00000267064.4_Missense_Mutation_p.G670D|SMARCC2_ENST00000550164.1_Missense_Mutation_p.G701D|RP11-977G19.5_ENST00000553176.1_RNA	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	670					chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			AACAGGGTTGCCCGACTGACT	0.587													T	56565546	C	T	56565546	3	4	472	1	0	0	0	0	1	0	0	0	14870	739	26	2	1671	2	SMARCC2	12	56565546	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	23773823	56565546	77286349	32	44422											
PIBF1	10464	broad.mit.edu	37	chr13	73505357	73505357	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaacaaaactcgctgattttAaaagatctggaacatcgaaa	19	9	6	7	2	1	2	0	1	1	1	3	4	1	3	0	1	3	1	0	1	7	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr13:73505357A>G	ENST00000326291.6	+	14	2123	c.1785A>G	c.(1783-1785)ttA>ttG	p.L595L		NM_006346.2	NP_006337.2	Q8WXW3	PIBF1_HUMAN	progesterone immunomodulatory binding factor 1	595						centrosome				breast(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Prostate(6;0.00191)|Breast(118;0.0736)|Acute lymphoblastic leukemia(28;0.0865)		GBM - Glioblastoma multiforme(99;0.000664)		CGCTGATTTTAAAAGATCTGG	0.318													G	73505357	A	G	73505357	2	3	472	1	0	0	0	0	0	0	0	1	11956	359	13	3		3	PIBF1	13	73505357	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08		73505357	41664521	33	44423											
OTX2	5015	broad.mit.edu	37	chr14	57270920	57270920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctacctgcaccctcgactCgggcaagttgattttcagtg	7	11	9	14	2	1	1	1	1	0	0	3	2	1	1	3	1	2	3	3	1	2	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:57270920C>T	ENST00000339475.5	-	4	535	c.259G>A	c.(259-261)Gag>Aag	p.E87K	OTX2_ENST00000408990.3_Missense_Mutation_p.E79K|OTX2_ENST00000554559.1_Intron|OTX2_ENST00000554788.1_Intron|OTX2_ENST00000555006.1_Missense_Mutation_p.E79K	NM_001270523.1|NM_001270524.1|NM_001270525.1|NM_021728.3	NP_001257452.1|NP_001257453.1|NP_001257454.1|NP_068374.1	P32243	OTX2_HUMAN	orthodenticle homeobox 2	79					axon guidance|forebrain development|midbrain development|positive regulation of embryonic development|positive regulation of gastrulation|primitive streak formation|protein complex assembly|regulation of fibroblast growth factor receptor signaling pathway|regulation of smoothened signaling pathway	growth cone|nucleus|protein complex	eukaryotic initiation factor 4E binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCCTCGACTCGGGCAAGTTG	0.572													T	57270920	C	T	57270920	3	4	472	1	0	0	0	0	1	0	0	0	11397	893	31	1	642	1	OTX2	14	57270920	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		57270920	50078620	34	44424											
ADAM20	8748	broad.mit.edu	37	chr14	70991445	70991445	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagcagaagagtgaccctGatgtgcaccaggggctcacc	11	5	13	12	0	1	4	1	2	0	2	1	4	1	4	3	2	3	4	3	2	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr14:70991445G>A	ENST00000256389.3	-	2	424	c.180C>T	c.(178-180)atC>atT	p.I60I	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	10					proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GAGTGACCCTGATGTGCACCA	0.522													A	70991445	G	A	70991445	2	1	472	1	0	0	0	0	0	0	0	1	242	1280	45	2		2	ADAM20	14	70991445	Silent	SNP	G	TCGA-FG-5965-01B-11D-1893-08	13720525	70991445	36358095	35	44425											
NEDD4	4734	broad.mit.edu	37	chr15	56134228	56134228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcctccataatccaatcccTtttcaccatcaaactcaatc	12	12	0	17	0	3	0	3	0	0	0	8	0	7	0	5	0	1	0	5	0	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr15:56134228T>C	ENST00000508342.1	-	15	3298	c.2999A>G	c.(2998-3000)aAg>aGg	p.K1000R	NEDD4_ENST00000435532.3_Missense_Mutation_p.K581R|NEDD4_ENST00000338963.2_Missense_Mutation_p.K928R|NEDD4_ENST00000506154.1_Missense_Mutation_p.K984R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1000	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATCCAATCCCTTTTCACCATC	0.433													C	56134228	T	C	56134228	3	2	472	1	0	0	0	0	1	0	0	0	10386	1609	56	3	1004	3	NEDD4	15	56134228	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08		56134228	46397164	36	44426											
HS3ST4	9951	broad.mit.edu	37	chr16	26147050	26147050	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggacatcaaactgatTgtggtggtgagaaaccccgt	12	8	12	9	1	1	2	1	2	0	1	1	4	1	3	3	3	2	0	3	3	3	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr16:26147050T>A	ENST00000331351.5	+	2	1244	c.852T>A	c.(850-852)atT>atA	p.I284I	HS3ST4_ENST00000475436.1_3'UTR	NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	284					heparan sulfate proteoglycan metabolic process	extracellular region|Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		TCAAACTGATTGTGGTGGTGA	0.502													A	26147050	T	A	26147050	2	1	472	1	0	0	0	0	0	0	0	1	7422	1800	63	5		5	HS3ST4	16	26147050	Silent	SNP	T	TCGA-FG-5965-01B-11D-1893-08		26147050	64207703	37	44427											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445912	4445912	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggccccaacactcaccGggtgccgggagaagaggctg	9	3	16	13	2	1	2	1	0	0	2	1	3	1	2	4	5	2	2	4	5	2	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:4445912G>A	ENST00000254718.4	-	21	3323	c.3017C>T	c.(3016-3018)cCg>cTg	p.P1006L	MYBBP1A_ENST00000381556.2_Splice_Site_p.P1006L			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1006					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						AACACTCACCGGGTGCCGGGA	0.637													A	4445912	G	A	4445912	5	1	472	1	0	0	0	0	0	0	1	0	10084	1130	39	1	1033	1	MYBBP1A	17	4445912	Splice_Site	SNP	G	TCGA-FG-5965-01B-11D-1893-08		4445912	76749298	38	44428											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	472	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	3131209	7577121	73618089	39	44429											
KANK2	25959	broad.mit.edu	37	chr19	11304446	11304446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagggtagaagccacggcCgcagtaggaataggctgagt	11	6	16	8	2	0	3	0	2	0	1	0	4	0	4	2	4	1	4	2	4	5	3	rs147297854		TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:11304446C>T	ENST00000432929.2	-	4	670	c.310G>A	c.(310-312)Ggc>Agc	p.G104S	KANK2_ENST00000355150.5_Missense_Mutation_p.G104S|KANK2_ENST00000586659.1_Missense_Mutation_p.G104S|KANK2_ENST00000589359.1_Missense_Mutation_p.G104S|KANK2_ENST00000589894.1_Missense_Mutation_p.G104S	NM_001136191.2	NP_001129663.1	Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	104										endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAGCCACGGCCGCAGTAGGAA	0.667													T	11304446	C	T	11304446	3	4	472	1	0	0	0	0	1	0	0	0	8035	652	23	1	2309	1	KANK2	19	11304446	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08		11304446	47824537	40	44430											
EMR3	84658	broad.mit.edu	37	chr19	14749062	14749062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcaggttccgtgcagTgaggaagaggtgcacaccct	9	8	13	11	1	1	2	1	1	0	1	2	3	2	3	2	3	2	3	2	3	1	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:14749062T>C	ENST00000253673.5	-	11	1439	c.1339A>G	c.(1339-1341)Act>Gct	p.T447A	EMR3_ENST00000443157.2_Missense_Mutation_p.T321A|EMR3_ENST00000344373.4_Missense_Mutation_p.T395A|EMR3_ENST00000599900.1_Missense_Mutation_p.T232A	NM_032571.3	NP_115960.2	Q9BY15	EMR3_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 3	447					neuropeptide signaling pathway	extracellular space|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(12)|lung(14)|ovary(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	50						TTCCGTGCAGTGAGGAAGAGG	0.572													C	14749062	T	C	14749062	3	2	472	1	0	0	0	0	1	0	0	0	5147	1696	59	3	643	3	EMR3	19	14749062	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	3444616	14749062	44379921	41	44431											
RYR1	6261	broad.mit.edu	37	chr19	38958451	38958451	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtcttcaatgggcaccGcgtgggtacctccctgggca	6	10	12	13	2	2	0	1	0	1	0	3	0	3	0	3	3	1	3	3	3	3	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:38958451G>A	ENST00000355481.4	+	25	3511	c.3380G>A	c.(3379-3381)cGc>cAc	p.R1127H	RYR1_ENST00000359596.3_Splice_Site_p.R1127H|RYR1_ENST00000360985.3_Splice_Site_p.R1127H	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1127	6 X approximate repeats.|B30.2/SPRY 2.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATGGGCACCGCGTGGGTACC	0.637													A	38958451	G	A	38958451	5	1	472	1	0	0	0	0	0	0	1	0	13859	1101	38	1	3478	1	RYR1	19	38958451	Splice_Site	SNP	G	TCGA-FG-5965-01B-11D-1893-08	24209389	38958451	20170532	42	44432											
CACNG7	59284	broad.mit.edu	37	chr19	54445512	54445512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accctcccgccatcaagtacCcggaccacctgcacatctcc	9	6	5	21	2	2	0	1	0	1	0	4	1	3	1	7	1	2	2	7	1	2	1			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr19:54445512C>T	ENST00000391767.1	+	6	1005	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	CACNG7_ENST00000222212.2_Missense_Mutation_p.P265S			P62955	CCG7_HUMAN	calcium channel, voltage-dependent, gamma subunit 7	265				GAGVMSVYLFTKRYAEEEMYRPHPAFYRPRLSDCSDYSGQF LQPEAWRRGRSPSDISSDVSIQMTQNYPPAIKYPDHLHIST SPC -> VTSVGPRL (in Ref. 1; AAK20030).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0711)		CATCAAGTACCCGGACCACCT	0.682													T	54445512	C	T	54445512	3	4	472	1	0	0	0	0	1	0	0	0	2588	623	22	2	811	2	CACNG7	19	54445512	Missense_Mutation	SNP	C	TCGA-FG-5965-01B-11D-1893-08	15487061	54445512	4683471	43	44433											
MED15	51586	broad.mit.edu	37	chr22	20939211	20939211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagccgctcctggatgccGtcctggccaacatccgctca	6	7	10	18	3	1	0	1	0	0	0	4	1	4	1	7	2	3	2	7	2	1	0			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chr22:20939211G>A	ENST00000263205.7	+	15	1942	c.1873G>A	c.(1873-1875)Gtc>Atc	p.V625I	MED15_ENST00000542773.1_3'UTR|MED15_ENST00000382974.2_Missense_Mutation_p.V514I|MED15_ENST00000406969.1_Missense_Mutation_p.V559I|MED15_ENST00000425759.2_Missense_Mutation_p.V474I|MED15_ENST00000292733.7_Missense_Mutation_p.V585I|MED15_ENST00000541476.1_Missense_Mutation_p.V559I	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	625					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CCTGGATGCCGTCCTGGCCAA	0.632													A	20939211	G	A	20939211	3	1	472	1	0	0	0	0	1	0	0	0	9508	1145	40	1	1931	1	MED15	22	20939211	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08		20939211	30365355	44	44434											
BEND2	139105	broad.mit.edu	37	chrX	18189326	18189326	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggtcttccaaaatagccTagaagcaaaaaagaaagatg	19	7	8	7	0	1	3	0	0	1	3	2	3	2	3	2	1	2	1	2	1	9	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:18189326T>A	ENST00000380033.4	-	13	2114		c.e13-2		BEND2_ENST00000380030.3_Splice_Site	NM_153346.4	NP_699177.2	Q8NDZ0	BEND2_HUMAN	BEN domain containing 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(11)|liver(1)|lung(21)|ovary(3)|prostate(1)	49						CAAAATAGCCTAGAAGCAAAA	0.358													A	18189326	T	A	18189326	5	1	472	1	0	0	0	0	0	0	1	0	1403	1536	53	5	453	5	BEND2	23	18189326	Splice_Site	SNP	T	TCGA-FG-5965-01B-11D-1893-08		18189326	137081234	45	44435											
HDAC6	10013	broad.mit.edu	37	chrX	48682404	48682404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgccccatacctgcagcaGgcctagacgtgacccaacct	10	7	8	16	1	0	2	0	1	0	1	0	2	0	2	6	1	5	2	6	1	4	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48682404G>T	ENST00000334136.5	+	27	3554	c.3376G>T	c.(3376-3378)Ggc>Tgc	p.G1126C	HDAC6_ENST00000444343.2_Missense_Mutation_p.G1140C|HDAC6_ENST00000376619.2_Missense_Mutation_p.G1126C			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	1126					aggresome assembly|cellular response to hydrogen peroxide|Hsp90 deacetylation|lysosome localization|macroautophagy|misfolded or incompletely synthesized protein catabolic process|negative regulation of proteolysis|negative regulation of transcription, DNA-dependent|peptidyl-lysine deacetylation|polyubiquitinated misfolded protein transport|positive regulation of apoptosis|positive regulation of cellular chaperone-mediated protein complex assembly|positive regulation of epithelial cell migration|positive regulation of receptor biosynthetic process|positive regulation of signal transduction|regulation of androgen receptor signaling pathway|regulation of receptor activity|response to growth factor stimulus|response to toxin|transcription, DNA-dependent|tubulin deacetylation	aggresome|caveola|cell leading edge|cytosol|histone deacetylase complex|microtubule associated complex|perinuclear region of cytoplasm	actin binding|alpha-tubulin binding|beta-catenin binding|dynein complex binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|Hsp90 protein binding|microtubule binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|polyubiquitin binding|tau protein binding|tubulin deacetylase activity|zinc ion binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	ACCTGCAGCAGGCCTAGACGT	0.542													T	48682404	G	T	48682404	3	4	472	1	0	0	0	0	1	0	0	0	7066	1000	35	4	3478	4	HDAC6	23	48682404	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	30493078	48682404	106588156	46	44436											
GPKOW	27238	broad.mit.edu	37	chrX	48972594	48972594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggtctggaaggtgtttccGcttcctctctgagttgtcct	3	15	11	12	2	2	1	0	1	2	0	6	2	5	2	4	3	0	3	4	3	1	3			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:48972594G>A	ENST00000156109.5	-	7	1075	c.997C>T	c.(997-999)Cgg>Tgg	p.R333W		NM_015698.4	NP_056513.2	Q92917	GPKOW_HUMAN	G patch domain and KOW motifs	333						nucleus	nucleic acid binding			breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|ovary(2)	21						AGGTGTTTCCGCTTCCTCTCT	0.572													A	48972594	G	A	48972594	3	1	472	1	0	0	0	0	1	0	0	0	6667	1086	38	1	453	1	GPKOW	23	48972594	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	290190	48972594	106297966	47	44437											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424364	69424364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatcggcccattaccactgTtggtgagctttcccttatct	7	14	7	13	1	1	1	0	1	1	0	3	1	2	1	3	2	2	2	3	2	3	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:69424364T>A	ENST00000333026.3	+	6	957	c.857T>A	c.(856-858)gTt>gAt	p.V286D		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	286					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						ATTACCACTGTTGGTGAGCTT	0.502													A	69424364	T	A	69424364	3	1	472	1	0	0	0	0	1	0	0	0	4498	1725	60	5	879	5	DGAT2L6	23	69424364	Missense_Mutation	SNP	T	TCGA-FG-5965-01B-11D-1893-08	20451770	69424364	85846196	48	44438											
ATRX	546	broad.mit.edu	37	chrX	76889172	76889172	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatccagtttgtcacacAaaagaactgtatgaagaaaa	19	9	7	6	0	1	4	1	2	0	2	2	4	2	4	1	0	1	2	1	0	8	2			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:76889172A>T	ENST00000373344.5	-	18	5052	c.4838T>A	c.(4837-4839)tTg>tAg	p.L1613*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.L1575*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1613	Helicase ATP-binding.				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)	TTTGTCACACAAAAGAACTGT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76889172	A	T	76889172	4	4	472	1	0	0	0	0	0	1	0	0	1213	131	5	5	2712	5	ATRX	23	76889172	Nonsense_Mutation	SNP	A	TCGA-FG-5965-01B-11D-1893-08	7464808	76889172	78381388	49	44439											
GPR174	84636	broad.mit.edu	37	chrX	78427488	78427488	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaccatacagcttccaccatGacacctgaattatgctaaaa	16	9	4	12	0	0	2	0	2	0	0	1	2	1	2	4	0	4	2	4	0	6	4			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:78427488G>C	ENST00000276077.1	+	1	1020	c.984G>C	c.(982-984)atG>atC	p.M328I		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	328						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CTTCCACCATGACACCTGAAT	0.413										HNSCC(63;0.18)			C	78427488	G	C	78427488	3	2	472	1	0	0	0	0	1	0	0	0	6726	1290	45	4	986	4	GPR174	23	78427488	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	1538316	78427488	76843072	50	44440											
RPS6KA6	27330	broad.mit.edu	37	chrX	83403057	83403057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctaattttctaccttttaaAgaggctttttttaacacctt	10	20	3	8	0	2	1	0	0	2	1	2	1	2	1	2	1	2	1	2	1	5	11			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:83403057A>G	ENST00000262752.2	-	4	340	c.333T>C	c.(331-333)tcT>tcC	p.S111S	RPS6KA6_ENST00000543399.1_Silent_p.S111S	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	111	Protein kinase 1.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						TACCTTTTAAAGAGGCTTTTT	0.303													G	83403057	A	G	83403057	2	3	472	1	0	0	0	0	0	0	0	1	13746	59	3	3		3	RPS6KA6	23	83403057	Silent	SNP	A	TCGA-FG-5965-01B-11D-1893-08	4975569	83403057	71867503	51	44441											
XIAP	331	broad.mit.edu	37	chrX	123020096	123020096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctactacacaggtattgGtgaccaagtgcagtgctttt	10	13	9	9	0	1	1	0	1	1	0	1	1	1	1	1	2	4	3	1	2	4	6			TCGA-FG-5965-01B-11D-1893-08	TCGA-FG-5965-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0730868d-1fe9-4964-a0cc-a12a74d161e6	6f6eeb7c-c029-419f-a597-d0f72fd8ae69	g.chrX:123020096G>C	ENST00000371199.3	+	2	883	c.584G>C	c.(583-585)gGt>gCt	p.G195A	XIAP_ENST00000355640.3_Missense_Mutation_p.G195A|XIAP_ENST00000468691.1_Intron|XIAP_ENST00000434753.3_Missense_Mutation_p.G195A	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	195					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ACAGGTATTGGTGACCAAGTG	0.458									X-linked Lymphoproliferative syndrome				C	123020096	G	C	123020096	3	2	472	1	0	0	0	0	1	0	0	0	17530	1261	44	4	586	4	XIAP	23	123020096	Missense_Mutation	SNP	G	TCGA-FG-5965-01B-11D-1893-08	39617039	123020096	32250464	52	44442											
TNFRSF9	3604	broad.mit.edu	37	chr1	7980912	7980914	+	In_Frame_Del	DEL	CTT	CTT	-																															atttcacagttcacatcctcCttcttcttcttctggaaatc																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:7980912_7980914delCTT	ENST00000377507.3	-	8	915_917	c.749_751delAAG	c.(748-753)gaagga>gga	p.E250del		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	250	Interaction with LRR-1.		E -> G (in a colorectal cancer sample; somatic mutation).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.E250G(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TCACATCCTCCTTCTTCTTCTTC	0.379													-	7980914	CTT	-	7980912	7	5	473	1	0	1	0	1	0	0	0	0	16400	690	24	0	20	0	TNFRSF9	1	7980912	In_Frame_Del	DEL	CTT	TCGA-FG-6688-01A-11D-1893-08		7980912	241269709	1	44443											
ZNF691	51058	broad.mit.edu	37	chr1	43317456	43317456	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccaccagaaaactcacttggGcgaacaggctgggaaagatt	14	6	11	10	1	1	2	1	0	0	2	1	4	1	3	2	3	2	1	2	3	4	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:43317456G>T	ENST00000372504.1	+	5	1243	c.893G>T	c.(892-894)gGc>gTc	p.G298V	ZNF691_ENST00000372506.1_Missense_Mutation_p.G276V|ZNF691_ENST00000372508.3_Missense_Mutation_p.G276V|ZNF691_ENST00000372502.1_Missense_Mutation_p.G298V|ZNF691_ENST00000372507.1_Missense_Mutation_p.G276V|ZNF691_ENST00000397044.3_Missense_Mutation_p.G307V			Q5VV52	ZN691_HUMAN	zinc finger protein 691	139						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				ACTCACTTGGGCGAACAGGCT	0.552													T	43317456	G	T	43317456	3	4	473	1	0	0	0	0	1	0	0	0	18197	1203	42	4	829	4	ZNF691	1	43317456	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	35336544	43317456	205933165	2	44444											
MYOC	4653	broad.mit.edu	37	chr1	171605340	171605340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttgtctcccaggtttgttCgagttccagattctctgggt	4	17	11	9	1	2	1	0	0	2	1	6	2	3	1	2	2	0	4	2	2	0	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:171605340C>T	ENST00000037502.6	-	3	1311	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.		E -> K.		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	p.E414K(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CAGGTTTGTTCGAGTTCCAGA	0.527													T	171605340	C	T	171605340	3	4	473	1	0	0	0	0	1	0	0	0	10162	893	31	1	278	1	MYOC	1	171605340	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	128287884	171605340	77645281	3	44445											
SNRPE	6635	broad.mit.edu	37	chr1	203832798	203832798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgattatttcagagatcgcGgattcaggtgtggctctatg	9	14	12	6	2	3	2	2	1	1	1	4	4	3	3	0	3	0	1	0	3	2	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr1:203832798G>A	ENST00000414487.2	+	3	134	c.89G>A	c.(88-90)cGg>cAg	p.R30Q	SNRPE_ENST00000483099.1_3'UTR|SNRPE_ENST00000367208.1_5'UTR	NM_003094.2	NP_003085.1	P62304	RUXE_HUMAN	small nuclear ribonucleoprotein polypeptide E	30					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			breast(1)|large_intestine(2)|lung(1)|skin(1)	5	all_cancers(21;0.103)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGAGATCGCGGATTCAGGTG	0.473													A	203832798	G	A	203832798	3	1	473	1	0	0	0	0	1	0	0	0	14961	1116	39	1	99	1	SNRPE	1	203832798	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	32227458	203832798	45417823	4	44446											
SRBD1	55133	broad.mit.edu	37	chr2	45616592	45616592	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgcttctgttacatttcGtatgggaatcagcccagatt	8	17	8	8	1	2	1	1	0	1	1	3	2	2	2	1	1	3	3	1	1	3	7			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:45616592G>A	ENST00000263736.4	-	21	2907	c.2845C>T	c.(2845-2847)Cga>Tga	p.R949*	SRBD1_ENST00000535761.1_Nonsense_Mutation_p.R468*|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	949	S1 motif.				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			GTTACATTTCGTATGGGAATC	0.433													A	45616592	G	A	45616592	4	1	473	1	0	0	0	0	0	1	0	0	15229	1153	40	1	146	1	SRBD1	2	45616592	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		45616592	197582781	5	44447											
PPP3R1	5534	broad.mit.edu	37	chr2	68413615	68413615	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacagcacagaattcttcAaaggatattcttccatctcc	12	13	4	12	0	4	1	1	0	3	1	6	2	5	2	2	1	2	1	2	1	4	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:68413615A>G	ENST00000234310.3	-	5	853	c.450T>C	c.(448-450)ttT>ttC	p.F150F	PPP3R1_ENST00000409377.1_Silent_p.F140F|PPP3R1_ENST00000409752.1_Silent_p.F169F|RP11-474G23.1_ENST00000406334.3_Silent_p.F140F	NM_000945.3	NP_000936.1	P63098	CANB1_HUMAN	protein phosphatase 3, regulatory subunit B, alpha	150	EF-hand 4.				activation of pro-apoptotic gene products|induction of apoptosis by intracellular signals	calcineurin complex|cytosol	calcium ion binding|calcium-dependent protein serine/threonine phosphatase activity|calmodulin binding			large_intestine(1)	1					Pimecrolimus(DB00337)	AGAATTCTTCAAAGGATATTC	0.333													G	68413615	A	G	68413615	2	3	473	1	0	0	0	0	0	0	0	1	12482	127	5	3		3	PPP3R1	2	68413615	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	22797023	68413615	174785758	6	44448											
CHST10	9486	broad.mit.edu	37	chr2	101009737	101009737	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaagtctggtttctggtaCccaaagagcttaaagtcccc	13	10	8	10	0	2	1	0	0	2	1	3	1	3	1	3	2	2	3	3	2	6	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:101009737C>A	ENST00000264249.3	-	7	1426	c.1041G>T	c.(1039-1041)ggG>ggT	p.G347G	CHST10_ENST00000409701.1_Silent_p.G347G|CHST10_ENST00000542617.1_Silent_p.G395G	NM_004854.4	NP_004845.1	O43529	CHSTA_HUMAN	carbohydrate sulfotransferase 10	347					carbohydrate biosynthetic process|cell adhesion	Golgi membrane|integral to membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)	16						GTTTCTGGTACCCAAAGAGCT	0.448													A	101009737	C	A	101009737	2	1	473	1	0	0	0	0	0	0	0	1	3428	494	18	4		4	CHST10	2	101009737	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	32596122	101009737	142189636	7	44449											
IL1RL1	9173	broad.mit.edu	37	chr2	102957203	102957203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgtgatgactgaggaCgcaggtgattacacctgtaa	13	10	12	6	1	0	4	0	4	0	0	0	6	0	5	1	2	1	2	1	2	3	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:102957203C>T	ENST00000311734.2	+	5	864	c.525C>T	c.(523-525)gaC>gaT	p.D175D	IL1RL1_ENST00000233954.1_Silent_p.D175D|IL1RL1_ENST00000404917.2_Silent_p.D58D|IL1RL1_ENST00000393393.3_Silent_p.D175D|IL1RL1_ENST00000409584.1_Silent_p.D175D	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	175	Ig-like C2-type 2.				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						TGACTGAGGACGCAGGTGATT	0.423													T	102957203	C	T	102957203	2	4	473	1	0	0	0	0	0	0	0	1	7721	535	19	1		1	IL1RL1	2	102957203	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	1947466	102957203	140242170	8	44450											
MYO7B	4648	broad.mit.edu	37	chr2	128341815	128341815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatctcctgggactatatcCactacaccgacaatcggccc	11	8	6	16	2	1	0	0	0	1	0	4	2	2	1	4	2	1	0	4	2	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:128341815C>T	ENST00000389524.4	+	13	1515	c.1462C>T	c.(1462-1464)Cac>Tac	p.H488Y	MYO7B_ENST00000428314.1_Missense_Mutation_p.H488Y|MYO7B_ENST00000409816.2_Missense_Mutation_p.H488Y			Q6PIF6	MYO7B_HUMAN	myosin VIIB	488	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		GGACTATATCCACTACACCGA	0.577													T	128341815	C	T	128341815	3	4	473	1	0	0	0	0	1	0	0	0	10159	594	21	2	1508	2	MYO7B	2	128341815	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	25384612	128341815	114857558	9	44451											
TTN	7273	broad.mit.edu	37	chr2	179396156	179396156	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttaaatgatgaaacagcAtacgcctctgttcttgtcag	11	14	7	9	1	4	2	1	2	3	0	4	2	4	2	1	0	3	2	1	0	4	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179396156A>G	ENST00000589042.1	-	358	105410	c.105186T>C	c.(105184-105186)taT>taC	p.Y35062Y	TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y26189Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.Y33421Y|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.Y26122Y|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Silent_p.Y25997Y|TTN_ENST00000342992.6_Silent_p.Y32494Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000431259.2_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33421							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGAAACAGCATACGCCTCTG	0.473													G	179396156	A	G	179396156	2	3	473	1	0	0	0	0	0	0	0	1	16837	224	8	3		3	TTN	2	179396156	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	51054341	179396156	63803217	10	44452											
TTN	7273	broad.mit.edu	37	chr2	179585342	179585342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attggagaatcacatcagaaCctttaagagctcctactgga	14	10	8	9	0	2	3	2	0	0	3	3	5	3	4	2	2	3	1	2	2	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:179585342C>A	ENST00000589042.1	-	80	23371	c.23147G>T	c.(23146-23148)gGt>gTt	p.G7716V	TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7399V|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6472V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7399	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATCAGAACCTTTAAGAGC	0.393													A	179585342	C	A	179585342	3	1	473	1	0	0	0	0	1	0	0	0	16837	507	18	4	81514	4	TTN	2	179585342	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	189186	179585342	63614031	11	44453											
PTH2R	5746	broad.mit.edu	37	chr2	209309554	209309554	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctgcataatctcatCtttgtggctttcttttcgga	6	18	6	11	1	4	0	1	0	4	0	6	1	4	1	1	2	2	2	1	2	2	6	rs143390240		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr2:209309554C>A	ENST00000272847.2	+	7	1008	c.795C>A	c.(793-795)atC>atA	p.I265I	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	265						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		ATAATCTCATCTTTGTGGCTT	0.413													A	209309554	C	A	209309554	2	1	473	1	0	0	0	0	0	0	0	1	12846	903	32	4		4	PTH2R	2	209309554	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	29724212	209309554	33889819	12	44454											
SCN10A	6336	broad.mit.edu	37	chr3	38755451	38755451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgagatcagacttacccGcatgccttcaaatcgagaaa	13	11	7	10	2	2	3	2	1	0	3	3	5	2	3	2	0	2	1	2	0	3	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:38755451G>A	ENST00000449082.2	-	21	3801	c.3802C>T	c.(3802-3804)Cgg>Tgg	p.R1268W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1268					sensory perception	voltage-gated sodium channel complex		p.R1268W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGACTTACCCGCATGCCTTCA	0.552													A	38755451	G	A	38755451	3	1	473	1	0	0	0	0	1	0	0	0	14005	1086	38	1	2096	1	SCN10A	3	38755451	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		38755451	159266979	13	44455											
SETD2	29072	broad.mit.edu	37	chr3	47098400	47098400	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgataatatatggttgcttGagactgtgcaggagagtact	11	14	12	4	0	0	3	0	2	0	2	0	5	0	3	0	2	3	4	0	2	4	7			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:47098400G>A	ENST00000409792.3	-	15	6916	c.6874C>T	c.(6874-6876)Caa>Taa	p.Q2292*		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2292	Gln-rich.|Low charge region.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		ATGGTTGCTTGAGACTGTGCA	0.463			"N, F, S, Mis"		clear cell renal carcinoma								A	47098400	G	A	47098400	4	1	473	1	0	0	0	0	0	1	0	0	14224	1299	45	2	848	2	SETD2	3	47098400	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	8342949	47098400	150924030	14	44456											
ERC2	26059	broad.mit.edu	37	chr3	56026258	56026258	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcagggttcatcctggaGtcatcttcaatattatgtgc	10	14	8	9	0	5	0	4	0	1	0	6	1	6	1	1	2	2	1	1	2	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:56026258G>A	ENST00000288221.6	-	11	2337	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D		NM_015576.1	NP_056391.1	O15083	ERC2_HUMAN	ELKS/RAB6-interacting/CAST family member 2	694						cell junction|cytoplasm|cytoskeleton|growth cone|presynaptic membrane|synaptosome	protein binding			breast(2)|endometrium(5)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|urinary_tract(1)	31				KIRC - Kidney renal clear cell carcinoma(284;0.0667)|Kidney(284;0.0873)|OV - Ovarian serous cystadenocarcinoma(275;0.219)		TCATCCTGGAGTCATCTTCAA	0.428													A	56026258	G	A	56026258	2	1	473	1	0	0	0	0	0	0	0	1	5252	1020	36	2		2	ERC2	3	56026258	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	8927858	56026258	141996172	15	44457											
MORC1	27136	broad.mit.edu	37	chr3	108773665	108773665	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacattgagaaattcctgttTattatgggatggttccatga	11	15	10	5	0	0	2	0	2	0	1	2	5	2	3	2	2	0	2	2	2	3	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr3:108773665T>A	ENST00000232603.5	-	14	1322	c.1240A>T	c.(1240-1242)Aaa>Taa	p.K414*	MORC1_ENST00000483760.1_Nonsense_Mutation_p.K414*	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	414					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AATTCCTGTTTATTATGGGAT	0.383													A	108773665	T	A	108773665	4	1	473	1	0	0	0	0	0	1	0	0	9777	1763	61	5	1774	5	MORC1	3	108773665	Nonsense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	52747407	108773665	89248765	16	44458											
TRIM60	166655	broad.mit.edu	37	chr4	165962269	165962269	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagagatttagttctggcCgacattactgggaagtagaa	12	11	11	7	1	2	2	1	0	1	2	2	5	2	3	1	2	1	2	1	2	5	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr4:165962269C>T	ENST00000512596.1	+	3	1261	c.1045C>T	c.(1045-1047)Cga>Tga	p.R349*	TRIM60_ENST00000341062.5_Nonsense_Mutation_p.R349*|TRIM60_ENST00000508504.1_Nonsense_Mutation_p.R349*	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	349	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TAGTTCTGGCCGACATTACTG	0.433													T	165962269	C	T	165962269	4	4	473	1	0	0	0	0	0	1	0	0	16636	644	23	1	1047	1	TRIM60	4	165962269	Nonsense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		165962269	25192007	17	44459											
PRLR	5618	broad.mit.edu	37	chr5	35065590	35065590	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggggcagcagccagggCgtatcctggtcagtctcaga	7	8	14	12	1	2	1	2	0	1	1	5	1	4	1	3	4	2	3	3	4	1	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:35065590C>T	ENST00000382002.5	-	10	1896	c.1470G>A	c.(1468-1470)acG>acA	p.T490T	PRLR_ENST00000397391.3_Intron|PRLR_ENST00000310101.5_Intron|PRLR_ENST00000511486.1_Silent_p.T389T|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000342362.5_Silent_p.T389T|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000542609.1_Intron	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	490					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity	p.T490T(1)		central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCAGGGCGTATCCTGGT	0.483													T	35065590	C	T	35065590	2	4	473	1	0	0	0	0	0	0	0	1	12617	755	27	1		1	PRLR	5	35065590	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08		35065590	145849670	18	44460											
PCDHA1	56147	broad.mit.edu	37	chr5	140166068	140166068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggtgcctcgcctgttcCgggtggcgtccaaaacacac	7	8	12	14	3	0	0	0	0	0	0	3	0	2	0	4	3	3	2	4	3	2	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140166068C>T	ENST00000504120.2	+	1	193	c.193C>T	c.(193-195)Cgg>Tgg	p.R65W	PCDHA1_ENST00000378133.3_Missense_Mutation_p.R65W|PCDHA1_ENST00000394633.3_Missense_Mutation_p.R65W	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCCTGTTCCGGGTGGCGTC	0.587													T	140166068	C	T	140166068	3	4	473	1	0	0	0	0	1	0	0	0	11595	643	23	1	195	1	PCDHA1	5	140166068	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	105100478	140166068	40749192	19	44461											
PCDHA2	56146	broad.mit.edu	37	chr5	140176926	140176926	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacagctctcagaatcagaaTacgtaggaaaggtgagtctt	15	9	10	7	1	3	3	2	1	2	2	4	4	3	4	0	2	3	2	0	2	6	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140176926T>C	ENST00000526136.1	+	1	2377	c.2377T>C	c.(2377-2379)Tac>Cac	p.Y793H	PCDHA2_ENST00000520672.2_Missense_Mutation_p.Y793H|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.Y793H|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAATCAGAATACGTAGGAAA	0.403													C	140176926	T	C	140176926	3	2	473	1	0	0	0	0	1	0	0	0	11600	1406	49	3	2379	3	PCDHA2	5	140176926	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	10858	140176926	40738334	20	44462											
PCDHA3	56145	broad.mit.edu	37	chr5	140182210	140182210	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggctgccacatcttcacGgtgtctgcgcgggacgcgga	5	7	15	14	6	3	0	1	0	2	0	3	2	3	2	2	4	2	1	2	4	0	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140182210G>T	ENST00000522353.2	+	1	1428	c.1428G>T	c.(1426-1428)acG>acT	p.T476T	PCDHA3_ENST00000532566.2_Silent_p.T476T|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATCTTCACGGTGTCTGCGC	0.667													T	140182210	G	T	140182210	2	4	473	1	0	0	0	0	0	0	0	1	11601	1103	39	4		4	PCDHA3	5	140182210	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	5284	140182210	40733050	21	44463											
PCDHGA4	56111	broad.mit.edu	37	chr5	140736510	140736510	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagctggcaccccgctcCgcagattccggctacctggt	5	8	13	15	3	0	1	0	0	0	1	2	2	2	2	5	4	2	5	5	4	1	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:140736510C>T	ENST00000571252.1	+	1	1743	c.1743C>T	c.(1741-1743)tcC>tcT	p.S581S	PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018917.2	NP_061740														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCCCGCTCCGCAGATTCCG	0.592													T	140736510	C	T	140736510	2	4	473	1	0	0	0	0	0	0	0	1	11632	639	23	1		1	PCDHGA4	5	140736510	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	554300	140736510	40178750	22	44464											
RARS	5917	broad.mit.edu	37	chr5	167921621	167921621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaccagtcttctagtgaatgGagttcaactacctgctctgg	9	12	10	10	0	4	1	1	1	3	0	4	3	4	2	2	2	3	2	2	2	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr5:167921621G>A	ENST00000231572.3	+	5	599	c.545G>A	c.(544-546)gGa>gAa	p.G182E	RARS_ENST00000538719.1_5'UTR	NM_002887.3	NP_002878.2	P54136	SYRC_HUMAN	arginyl-tRNA synthetase	182					arginyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|stomach(1)	22	Renal(175;0.000159)|Lung NSC(126;0.0875)|all_lung(126;0.166)	Medulloblastoma(196;0.0208)|all_neural(177;0.0227)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0693)|Epithelial(171;0.131)|OV - Ovarian serous cystadenocarcinoma(192;0.156)		CTAGTGAATGGAGTTCAACTA	0.343													A	167921621	G	A	167921621	3	1	473	1	0	0	0	0	1	0	0	0	13146	1174	41	2	563	2	RARS	5	167921621	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	27185111	167921621	12993639	23	44465											
FARS2	10667	broad.mit.edu	37	chr6	5431389	5431389	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgcggggtgatggaacaAcaactggtcaattcaggtaa	12	8	14	7	1	2	1	2	1	0	0	2	2	2	2	0	6	4	2	0	6	5	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:5431389A>G	ENST00000324331.6	+	4	1224	c.888A>G	c.(886-888)caA>caG	p.Q296Q	FARS2_ENST00000274680.4_Silent_p.Q296Q			O95363	SYFM_HUMAN	phenylalanyl-tRNA synthetase 2, mitochondrial	296					phenylalanyl-tRNA aminoacylation|tRNA processing	mitochondrial matrix|soluble fraction	ATP binding|magnesium ion binding|phenylalanine-tRNA ligase activity|tRNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)|stomach(2)	15	Ovarian(93;0.11)	all_hematologic(90;0.0104)			L-Phenylalanine(DB00120)	TGATGGAACAACAACTGGTCA	0.458													G	5431389	A	G	5431389	2	3	473	1	0	0	0	0	0	0	0	1	5727	40	2	3		3	FARS2	6	5431389	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08		5431389	165683678	24	44466											
C2	717	broad.mit.edu	37	chr6	31912793	31912793	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttttccttgagcggagatTcaggttttttcaggtgagaa	9	15	12	5	1	2	3	2	2	0	2	3	5	3	3	1	3	1	2	1	3	1	7			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:31912793T>A	ENST00000299367.5	+	17	2342	c.2066T>A	c.(2065-2067)tTc>tAc	p.F689Y	C2_ENST00000468407.1_3'UTR|C2_ENST00000452323.2_Missense_Mutation_p.F475Y|C2_ENST00000469372.1_Missense_Mutation_p.F443Y|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron|C2_ENST00000442278.2_Missense_Mutation_p.F557Y|CFB_ENST00000556679.1_Intron	NM_000063.4	NP_000054.2			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		GAGCGGAGATTCAGGTTTTTT	0.547													A	31912793	T	A	31912793	3	1	473	1	0	0	0	0	1	0	0	0	2095	1783	62	5	2209	5	C2	6	31912793	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	26481404	31912793	139202274	25	44467											
SPDEF	25803	broad.mit.edu	37	chr6	34508917	34508917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattggtgctctgtccacaGgagccacttctgcacattgc	7	12	10	12	0	2	0	0	0	2	0	3	1	3	1	2	2	4	3	2	2	1	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:34508917G>A	ENST00000374037.3	-	3	892	c.478C>T	c.(478-480)Ctg>Ttg	p.L160L	SPDEF_ENST00000544425.1_Silent_p.L160L	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	160	PNT.				negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						TCTGTCCACAGGAGCCACTTC	0.642													A	34508917	G	A	34508917	2	1	473	1	0	0	0	0	0	0	0	1	15122	991	35	2		2	SPDEF	6	34508917	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	2596124	34508917	136606150	26	44468											
TDRD6	221400	broad.mit.edu	37	chr6	46655895	46655895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcccggaatgccggcgccGggggcctcgctggccctgcg	3	4	17	17	7	0	0	0	0	0	0	1	1	0	1	5	5	2	1	5	5	1	0			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:46655895G>A	ENST00000544460.1	+	1	284	c.30G>A	c.(28-30)ccG>ccA	p.P10P	TDRD6_ENST00000316081.6_Silent_p.P10P|RP11-446F17.3_ENST00000434329.2_RNA	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	10					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TGCCGGCGCCGGGGGCCTCGC	0.721													A	46655895	G	A	46655895	2	1	473	1	0	0	0	0	0	0	0	1	15834	1103	39	1		1	TDRD6	6	46655895	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	12146978	46655895	124459172	27	44469											
DSE	29940	broad.mit.edu	37	chr6	116758080	116758080	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagggcaggcaaacgctatAaatttgtggatgctgtccct	11	10	12	8	1	0	0	0	0	0	0	1	2	1	1	1	3	2	4	1	3	5	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr6:116758080A>C	ENST00000331677.3	+	7	2893	c.2449A>C	c.(2449-2451)Aaa>Caa	p.K817Q	DSE_ENST00000452085.3_Missense_Mutation_p.K817Q|DSE_ENST00000537543.1_Missense_Mutation_p.K836Q|DSE_ENST00000359564.2_Missense_Mutation_p.K817Q			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	817					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CAAACGCTATAAATTTGTGGA	0.423													C	116758080	A	C	116758080	3	2	473	1	0	0	0	0	1	0	0	0	4813	363	13	5	2467	5	DSE	6	116758080	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	70102185	116758080	54356987	28	44470											
ABCA13	154664	broad.mit.edu	37	chr7	48320993	48320993	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagccctcagaagccaTggagatgctgcagaaagtga	13	7	13	8	0	1	5	1	2	0	3	1	6	1	5	2	1	4	2	2	1	3	0			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:48320993T>C	ENST00000435803.1	+	19	8804	c.8780T>C	c.(8779-8781)aTg>aCg	p.M2927T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2927					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCAGAAGCCATGGAGATGCTG	0.438													C	48320993	T	C	48320993	3	2	473	1	0	0	0	0	1	0	0	0	31	1464	51	3	8683	3	ABCA13	7	48320993	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08		48320993	110817670	29	44471											
COBL	23242	broad.mit.edu	37	chr7	51096966	51096966	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gataaggccacacggattccTtttccgacgtcatgggaagc	10	9	11	11	3	1	0	1	0	0	0	3	4	3	2	3	3	1	0	3	3	2	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:51096966T>C	ENST00000395542.2	-	12	2257	c.2073A>G	c.(2071-2073)aaA>aaG	p.K691K	COBL_ENST00000265136.7_Silent_p.K609K			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	609										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CACGGATTCCTTTTCCGACGT	0.537													C	51096966	T	C	51096966	2	2	473	1	0	0	0	0	0	0	0	1	3684	1606	56	3		3	COBL	7	51096966	Silent	SNP	T	TCGA-FG-6688-01A-11D-1893-08	2775973	51096966	108041697	30	44472											
MUC17	140453	broad.mit.edu	37	chr7	100679593	100679593	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctagtgaaggaagtcctctAttaacaagtatacctgtcag	13	11	8	9	0	2	1	1	1	1	0	3	2	3	2	3	1	2	1	3	1	8	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:100679593A>G	ENST00000306151.4	+	3	4960	c.4896A>G	c.(4894-4896)ctA>ctG	p.L1632L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1632	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)					GAAGTCCTCTATTAACAAGTA	0.493													G	100679593	A	G	100679593	2	3	473	1	0	0	0	0	0	0	0	1	10050	436	16	3		3	MUC17	7	100679593	Silent	SNP	A	TCGA-FG-6688-01A-11D-1893-08	49582627	100679593	58459070	31	44473											
FLNC	2318	broad.mit.edu	37	chr7	128489530	128489530	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggttgagaaccatgaCggtacctttgacatctacta	11	12	10	8	1	1	3	0	3	1	1	1	5	1	3	2	2	3	2	2	2	4	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128489530C>T	ENST00000325888.8	+	30	5358	c.5097C>T	c.(5095-5097)gaC>gaT	p.D1699D	FLNC_ENST00000346177.6_Silent_p.D1699D	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1699					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGAACCATGACGGTACCTTTG	0.612													T	128489530	C	T	128489530	2	4	473	1	0	0	0	0	0	0	0	1	5984	535	19	1		1	FLNC	7	128489530	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	27809937	128489530	30649133	32	44474											
TSPAN33	340348	broad.mit.edu	37	chr7	128802337	128802337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcattgggtccctccGcgagaacatctgcctcctgc	5	10	11	15	2	1	1	0	0	1	1	4	2	4	1	4	2	4	2	4	2	1	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr7:128802337G>A	ENST00000289407.4	+	3	372	c.263G>A	c.(262-264)cGc>cAc	p.R88H		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	88						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GGGTCCCTCCGCGAGAACATC	0.627													A	128802337	G	A	128802337	3	1	473	1	0	0	0	0	1	0	0	0	16749	1087	38	1	273	1	TSPAN33	7	128802337	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	312807	128802337	30336326	33	44475											
DENND3	22898	broad.mit.edu	37	chr8	142176321	142176321	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctaagtccaaggagacCgaccgttgagaaaagagcct	13	7	11	10	2	1	3	0	1	1	3	2	6	2	3	4	1	1	2	4	1	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr8:142176321C>G	ENST00000519811.1	+	12	1656	c.1586C>G	c.(1585-1587)cCg>cGg	p.P529R	DENND3_ENST00000262585.2_Missense_Mutation_p.P449R|DENND3_ENST00000424248.1_Missense_Mutation_p.P397R			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	449								p.P449L(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			CCAAGGAGACCGACCGTTGAG	0.483													G	142176321	C	G	142176321	3	3	473	1	0	0	0	0	1	0	0	0	4471	652	23	4	1388	4	DENND3	8	142176321	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		142176321	4187701	34	44476											
TLN1	7094	broad.mit.edu	37	chr9	35717307	35717307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctgctgctcctacccctCgcaacagttgcccatcctct	5	11	7	18	1	1	0	0	0	1	0	4	0	3	0	5	1	5	5	5	1	2	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:35717307C>T	ENST00000314888.9	-	19	2647	c.2294G>A	c.(2293-2295)cGa>cAa	p.R765Q	TLN1_ENST00000540444.1_Missense_Mutation_p.R765Q	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	765					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TCCTACCCCTCGCAACAGTTG	0.617													T	35717307	C	T	35717307	3	4	473	1	0	0	0	0	1	0	0	0	16047	884	31	1	5487	1	TLN1	9	35717307	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		35717307	105496124	35	44477											
ANXA1	301	broad.mit.edu	37	chr9	75783993	75783993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaggattatggtttccCgttctgaaattgacatgaat	11	15	9	6	1	2	4	1	4	1	0	3	5	3	5	1	2	0	2	1	2	3	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:75783993C>T	ENST00000376911.1	+	11	1789	c.907C>T	c.(907-909)Cgt>Tgt	p.R303C	ANXA1_ENST00000257497.6_Missense_Mutation_p.R303C|ANXA1_ENST00000491192.1_3'UTR			P04083	ANXA1_HUMAN	annexin A1	303					alpha-beta T cell differentiation|anti-apoptosis|cell surface receptor linked signaling pathway|cellular component movement|inflammatory response|keratinocyte differentiation|lipid metabolic process|peptide cross-linking|positive regulation of vesicle fusion	basolateral plasma membrane|cilium|cornified envelope|cytoplasm|extracellular region|nucleus	calcium ion binding|calcium-dependent phospholipid binding|phospholipase A2 inhibitor activity|protein binding, bridging|receptor binding|structural molecule activity	p.R303S(1)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(5)	8		all_epithelial(88;2.54e-11)		OV - Ovarian serous cystadenocarcinoma(323;2.82e-06)|GBM - Glioblastoma multiforme(74;0.0325)	Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Clobetasol(DB01013)|Clocortolone(DB00838)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Flumethasone Pivalate(DB00663)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mometasone(DB00764)|Prednicarbate(DB01130)|Prednisone(DB00635)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TATGGTTTCCCGTTCTGAAAT	0.388													T	75783993	C	T	75783993	3	4	473	1	0	0	0	0	1	0	0	0	714	652	23	1	949	1	ANXA1	9	75783993	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	40066686	75783993	65429438	36	44478											
NIPSNAP3A	25934	broad.mit.edu	37	chr9	107513272	107513272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctacgggacccagacaataCgatggaatattctatgaatt	14	10	9	8	2	1	2	0	1	1	1	1	5	1	4	1	2	2	1	1	2	7	6	rs146388542	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr9:107513272C>T	ENST00000374767.4	+	2	201	c.96C>T	c.(94-96)taC>taT	p.Y32Y		NM_015469.1	NP_056284.1			nipsnap homolog 3A (C. elegans)											autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	8						CCAGACAATACGATGGAATAT	0.363													T	107513272	C	T	107513272	2	4	473	1	0	0	0	0	0	0	0	1	10506	547	19	1		1	NIPSNAP3A	9	107513272	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	31729279	107513272	33700159	37	44479											
NRAP	4892	broad.mit.edu	37	chr10	115401191	115401191	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccataccaactccttcatagCggcctctcatgtggttctgg	7	12	8	14	1	3	0	2	0	2	0	5	0	4	0	4	3	3	1	4	3	3	4	rs138124439		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr10:115401191C>T	ENST00000369358.4	-	13	1500	c.1256G>A	c.(1255-1257)cGc>cAc	p.R419H	NRAP_ENST00000360478.3_Missense_Mutation_p.R384H|NRAP_ENST00000359988.3_Missense_Mutation_p.R419H|NRAP_ENST00000369360.3_Missense_Mutation_p.R384H			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	419						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		TCCTTCATAGCGGCCTCTCAT	0.438													T	115401191	C	T	115401191	3	4	473	1	0	0	0	0	1	0	0	0	10714	768	27	1	4056	1	NRAP	10	115401191	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		115401191	20133556	38	44480											
PHF21A	51317	broad.mit.edu	37	chr11	46098353	46098356	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															gcttggagttcatgaagctgTttctttaagtcagcattctg																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:46098353_46098356delTTTC	ENST00000257821.4	-	5	725_728	c.102_105delGAAA	c.(100-105)aagaaafs	p.KK34fs	PHF21A_ENST00000418153.2_Frame_Shift_Del_p.KK34fs|PHF21A_ENST00000323180.6_Frame_Shift_Del_p.KK34fs	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	34	Gln-rich.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						CATGAAGCTGTTTCTTTAAGTCAG	0.368													-	46098356	TTTC	-	46098353	7	5	473	1	0	1	0	1	0	0	0	0	11910	1722	60	0	2023	0	PHF21A	11	46098353	Frame_Shift_Del	DEL	TTTC	TCGA-FG-6688-01A-11D-1893-08		46098353	88908163	39	44481											
PRSS23	11098	broad.mit.edu	37	chr11	86519582	86519582	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttctgtgacgtcaaagaCgagacctatgacttgctcta	10	11	9	11	3	3	4	1	2	2	2	3	5	3	4	1	0	1	2	1	0	3	4	rs150416218		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:86519582C>A	ENST00000280258.5	+	2	1322	c.897C>A	c.(895-897)gaC>gaA	p.D299E	PRSS23_ENST00000441050.1_Missense_Mutation_p.D267E|PRSS23_ENST00000533902.2_Intron	NM_007173.4	NP_009104.1	O95084	PRS23_HUMAN	protease, serine, 23	299					proteolysis	extracellular region|nucleus	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	18		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				ACGTCAAAGACGAGACCTATG	0.557													A	86519582	C	A	86519582	3	1	473	1	0	0	0	0	1	0	0	0	12705	535	19	4	899	4	PRSS23	11	86519582	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	40421229	86519582	48486934	40	44482											
APOA4	337	broad.mit.edu	37	chr11	116691938	116691938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccctcggtgttgcccCtcaggttgccacgcacgtcc	4	8	11	18	3	1	0	1	0	0	0	3	0	2	0	6	2	3	4	6	2	0	2	rs1042372		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:116691938C>T	ENST00000357780.3	-	3	950	c.836G>A	c.(835-837)aGg>aAg	p.R279K		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGTGTTGCCCCTCAGGTTGCC	0.677													T	116691938	C	T	116691938	3	4	473	1	0	0	0	0	1	0	0	0	786	681	24	2	358	2	APOA4	11	116691938	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	30172356	116691938	18314578	41	44483											
TMEM225	338661	broad.mit.edu	37	chr11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcccaggttacgtgaCgtgtttggacttttttgttt	7	16	11	7	2	0	2	0	1	0	1	0	3	0	3	1	2	2	3	1	2	1	6	rs114749572	byFrequency	TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													T	123753867	C	T	123753867	3	4	473	1	0	0	0	0	1	0	0	0	16247	536	19	1	25	1	TMEM225	11	123753867	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	7061929	123753867	11252649	42	44484											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341228	130341228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacaagtgtggggtgtgtggGggagacaataagagctgcaa	12	7	18	4	0	0	2	0	0	0	2	0	4	0	2	0	4	2	2	0	4	4	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr11:130341228G>A	ENST00000299164.2	+	7	2028	c.2028G>A	c.(2026-2028)ggG>ggA	p.G676G		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	676	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GGGTGTGTGGGGGAGACAATA	0.572													A	130341228	G	A	130341228	2	1	473	1	0	0	0	0	0	0	0	1	260	1219	43	2		2	ADAMTS15	11	130341228	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	6587361	130341228	4665288	43	44485											
CHD4	1108	broad.mit.edu	37	chr12	6702730	6702730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaaactcccgctcccagTtgatgatggtagaaagaggg	11	10	11	9	1	1	4	1	2	0	2	3	4	3	4	2	2	1	3	2	2	3	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:6702730T>C	ENST00000309577.6	-	16	2529	c.2366A>G	c.(2365-2367)aAc>aGc	p.N789S	CHD4_ENST00000544484.1_Missense_Mutation_p.N786S|CHD4_ENST00000544040.1_Missense_Mutation_p.N782S|CHD4_ENST00000357008.2_Missense_Mutation_p.N789S			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	789	Helicase ATP-binding.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						CCGCTCCCAGTTGATGATGGT	0.532													C	6702730	T	C	6702730	3	2	473	1	0	0	0	0	1	0	0	0	3357	1725	60	3	3472	3	CHD4	12	6702730	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08		6702730	127149165	44	44486											
CLEC4C	170482	broad.mit.edu	37	chr12	7883393	7883393	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacctcattctatactcacGtgacattttcattgtatggt	9	18	5	9	1	4	1	3	1	1	0	4	1	4	1	1	1	2	1	1	1	4	8			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:7883393G>A	ENST00000542353.1	-	6	987	c.497C>T	c.(496-498)aCa>aTa	p.T166I	CLEC4C_ENST00000540085.1_Splice_Site_p.T135I|CLEC4C_ENST00000354629.5_Splice_Site_p.T135I|CLEC4C_ENST00000360345.3_Splice_Site_p.T166I	NM_130441.2	NP_569708.1	Q8WTT0	CLC4C_HUMAN	C-type lectin domain family 4, member C	166	C-type lectin.				innate immune response	integral to membrane	sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				Kidney(36;0.0915)		CTATACTCACGTGACATTTTC	0.433													A	7883393	G	A	7883393	5	1	473	1	0	0	0	0	0	0	1	0	3544	1159	40	1	152	1	CLEC4C	12	7883393	Splice_Site	SNP	G	TCGA-FG-6688-01A-11D-1893-08	1180663	7883393	125968502	45	44487											
PIP4K2C	79837	broad.mit.edu	37	chr12	57989740	57989740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcttccttatctcctacgatCggactctggtcatcaaagaa	10	12	7	12	2	4	1	2	0	2	1	7	3	5	2	2	2	1	1	2	2	4	3	rs144510690		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:57989740C>T	ENST00000354947.5	+	4	455	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	PIP4K2C_ENST00000540759.2_Missense_Mutation_p.R147W|PIP4K2C_ENST00000422156.3_Intron|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.R129W			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	147	PIPK.					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CTCCTACGATCGGACTCTGGT	0.522													T	57989740	C	T	57989740	3	4	473	1	0	0	0	0	1	0	0	0	12015	875	31	1	453	1	PIP4K2C	12	57989740	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	50106347	57989740	75862155	46	44488											
UTP20	27340	broad.mit.edu	37	chr12	101750464	101750464	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagttatggaagctaatCtgccaaggtatgttttttaa	14	14	9	4	0	1	1	0	0	1	1	1	2	1	2	1	2	2	4	1	2	8	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:101750464C>G	ENST00000261637.4	+	42	5701	c.5527C>G	c.(5527-5529)Ctg>Gtg	p.L1843V		NM_014503.2	NP_055318.2	O75691	UTP20_HUMAN	UTP20, small subunit (SSU) processome component, homolog (yeast)	1843					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|negative regulation of cell proliferation	90S preribosome|cytoplasm|nucleolus|nucleoplasm|preribosome, small subunit precursor|small-subunit processome	protein binding			NS(3)|biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(26)|lung(30)|ovary(2)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	88						GGAAGCTAATCTGCCAAGGTA	0.363													G	101750464	C	G	101750464	3	3	473	1	0	0	0	0	1	0	0	0	17201	912	32	4	5693	4	UTP20	12	101750464	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	43760724	101750464	32101431	47	44489											
ACACB	32	broad.mit.edu	37	chr12	109625810	109625810	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtccggactccagggttttAagccgagctccgggactgtc	6	10	13	12	3	0	0	0	0	0	0	4	3	3	2	4	3	2	2	4	3	1	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr12:109625810A>G	ENST00000338432.7	+	13	2106	c.1987A>G	c.(1987-1989)Aag>Gag	p.K663E	ACACB_ENST00000377854.5_Missense_Mutation_p.K663E|ACACB_ENST00000377848.3_Missense_Mutation_p.K663E			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	663	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAGGGTTTTAAGCCGAGCTC	0.498													G	109625810	A	G	109625810	3	3	473	1	0	0	0	0	1	0	0	0	107	363	13	3	2033	3	ACACB	12	109625810	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	7875346	109625810	24226085	48	44490											
CRYL1	51084	broad.mit.edu	37	chr13	21013857	21013859	+	In_Frame_Del	DEL	TCT	TCT	-																															ggaatctaactgagcaaaaaTcttcttcttcagttctagat																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:21013857_21013859delTCT	ENST00000382812.1	-	5	473_475	c.245_247delAGA	c.(244-249)aagatt>att	p.K82del	CRYL1_ENST00000480748.1_5'UTR|CRYL1_ENST00000298248.7_In_Frame_Del_p.K104del			Q9Y2S2	CRYL1_HUMAN	crystallin, lambda 1	104					fatty acid metabolic process	cytosol	3-hydroxyacyl-CoA dehydrogenase activity|L-gulonate 3-dehydrogenase activity|NAD+ binding|protein homodimerization activity			NS(1)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	14		all_cancers(29;2.27e-23)|all_epithelial(30;1.69e-19)|all_lung(29;8.29e-18)|Lung SC(185;0.0262)|Ovarian(182;0.0827)|Hepatocellular(188;0.244)		all cancers(112;6.6e-05)|Epithelial(112;0.00178)|OV - Ovarian serous cystadenocarcinoma(117;0.0169)|Lung(94;0.0215)|GBM - Glioblastoma multiforme(144;0.0402)|LUSC - Lung squamous cell carcinoma(192;0.061)		TGAGCAAAAATCTTCTTCTTCAG	0.419													-	21013859	TCT	-	21013857	7	5	473	1	0	1	0	1	0	0	0	0	3951	1435	50	0	666	0	CRYL1	13	21013857	In_Frame_Del	DEL	TCT	TCGA-FG-6688-01A-11D-1893-08		21013857	94156021	49	44491											
CENPJ	55835	broad.mit.edu	37	chr13	25479612	25479612	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taggaggacttctgctcctcCtggacttgctcaagtcttct	6	14	9	12	0	4	0	1	0	3	0	6	3	6	3	2	3	2	2	2	3	2	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:25479612C>G	ENST00000381884.4	-	7	2749	c.2564G>C	c.(2563-2565)aGg>aCg	p.R855T	CENPJ_ENST00000545981.1_Missense_Mutation_p.R855T	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	855					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TCTGCTCCTCCTGGACTTGCT	0.428													G	25479612	C	G	25479612	3	3	473	1	0	0	0	0	1	0	0	0	3264	681	24	4	1496	4	CENPJ	13	25479612	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	4465755	25479612	89690266	50	44492											
RB1	5925	broad.mit.edu	37	chr13	48955530	48955533	+	Frame_Shift_Del	DEL	ATTT	ATTT	-																															gacaagagaaatgataaaacAtttagaacgatgtgaacatc																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr13:48955530_48955533delATTT	ENST00000267163.4	+	17	1784_1787	c.1646_1649delATTT	c.(1645-1650)catttafs	p.HL549fs		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	549	Domain A.|Pocket; binds T and E1A.		H -> Y (in RB).		androgen receptor signaling pathway|cell cycle arrest|chromatin remodeling|G1 phase of mitotic cell cycle|interspecies interaction between organisms|maintenance of mitotic sister chromatid cohesion|mitotic cell cycle G1/S transition checkpoint|myoblast differentiation|negative regulation of cell growth|negative regulation of protein kinase activity|negative regulation of S phase of mitotic cell cycle|negative regulation of sequence-specific DNA binding transcription factor activity|positive regulation of mitotic metaphase/anaphase transition|protein localization to chromosome, centromeric region|Ras protein signal transduction|regulation of centromere complex assembly|regulation of cohesin localization to chromatin|regulation of lipid kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|sister chromatid biorientation	chromatin|PML body|Rb-E2F complex|SWI/SNF complex	androgen receptor binding|DNA binding|kinase binding|phosphoprotein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription factor binding|ubiquitin protein ligase binding	p.0?(15)|p.?(8)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	ATGATAAAACATTTAGAACGATGT	0.328		6	"D, Mis, N, F, S"		"retinoblastoma, sarcoma, breast, small cell lung"	"retinoblastoma, sarcoma, breast, small cell lung"			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)			-	48955533	ATTT	-	48955530	7	5	473	1	0	1	0	1	0	0	0	0	13186	217	8	0	1712	0	RB1	13	48955530	Frame_Shift_Del	DEL	ATTT	TCGA-FG-6688-01A-11D-1893-08	23475918	48955530	66214348	51	44493											
CLEC14A	161198	broad.mit.edu	37	chr14	38724284	38724284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgattggccatgttctctgcGgcacggggctggttgcagtg	4	12	16	9	2	1	1	0	1	1	0	2	1	1	1	1	5	2	5	1	5	0	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:38724284G>A	ENST00000342213.2	-	1	1290	c.944C>T	c.(943-945)cCg>cTg	p.P315L		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	315						integral to membrane	sugar binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		TGTTCTCTGCGGCACGGGGCT	0.617													A	38724284	G	A	38724284	3	1	473	1	0	0	0	0	1	0	0	0	3530	1116	39	1	532	1	CLEC14A	14	38724284	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		38724284	68625256	52	44494											
LRFN5	145581	broad.mit.edu	37	chr14	42355895	42355895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcagatctgtccaaagCgttgtgtctgtcagattttg	9	14	10	8	1	4	2	2	0	2	2	5	2	5	2	1	0	2	2	1	0	2	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:42355895C>T	ENST00000554171.1	+	5	2499	c.67C>T	c.(67-69)Cgt>Tgt	p.R23C	LRFN5_ENST00000554120.1_Missense_Mutation_p.R23C|LRFN5_ENST00000298119.4_Missense_Mutation_p.R23C			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	23	LRRNT.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTGTCCAAAGCGTTGTGTCTG	0.398										HNSCC(30;0.082)			T	42355895	C	T	42355895	3	4	473	1	0	0	0	0	1	0	0	0	9011	768	27	1	69	1	LRFN5	14	42355895	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	3631611	42355895	64993645	53	44495											
RTN1	6252	broad.mit.edu	37	chr14	60212786	60212786	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttattcttaaagtccaagtCtttatcttccagctcggggt	8	17	7	9	1	3	0	0	0	3	0	6	0	5	0	2	2	1	1	2	2	5	7			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr14:60212786C>T	ENST00000267484.5	-	2	990	c.655G>A	c.(655-657)Gac>Aac	p.D219N		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	219					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		AAGTCCAAGTCTTTATCTTCC	0.448													T	60212786	C	T	60212786	3	4	473	1	0	0	0	0	1	0	0	0	13816	913	32	2	1772	2	RTN1	14	60212786	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	17856891	60212786	47136754	54	44496											
ZNF770	54989	broad.mit.edu	37	chr15	35274299	35274299	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattaaagaattcctcacctGatgaaccacagattgacaag	16	10	6	9	0	1	5	1	3	0	2	2	5	2	5	3	0	1	0	3	0	6	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:35274299G>C	ENST00000356321.4	-	3	1681	c.1337C>G	c.(1336-1338)tCa>tGa	p.S446*		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	446					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTCCTCACCTGATGAACCACA	0.343													C	35274299	G	C	35274299	4	2	473	1	0	0	0	0	0	1	0	0	18243	1294	45	4	742	4	ZNF770	15	35274299	Nonsense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08		35274299	67257093	55	44497											
DUOX2	50506	broad.mit.edu	37	chr15	45389890	45389890	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcggaagtggtgggaggcGaagacatacatgatggccag	11	5	18	7	3	0	2	0	1	0	1	0	5	0	4	1	6	1	0	1	6	3	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:45389890G>A	ENST00000389039.6	-	28	4000	c.3615C>T	c.(3613-3615)ttC>ttT	p.F1205F	DUOX2_ENST00000603300.1_Silent_p.F1205F			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	1205	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		GGTGGGAGGCGAAGACATACA	0.617													A	45389890	G	A	45389890	2	1	473	1	0	0	0	0	0	0	0	1	4840	1049	37	1		1	DUOX2	15	45389890	Silent	SNP	G	TCGA-FG-6688-01A-11D-1893-08	10115591	45389890	57141502	56	44498											
SLC28A1	9154	broad.mit.edu	37	chr15	85467219	85467219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctttcctgtttgcagaccGaggctccattactgatccgg	7	13	9	12	2	1	2	0	1	1	1	4	3	4	2	4	2	2	3	4	2	1	3	rs150926643		TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:85467219G>A	ENST00000394573.1	+	12	1163	c.961G>A	c.(961-963)Gag>Aag	p.E321K	SLC28A1_ENST00000537624.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000286749.3_Missense_Mutation_p.E321K|SLC28A1_ENST00000537703.1_Missense_Mutation_p.E243K|SLC28A1_ENST00000538177.1_Missense_Mutation_p.E321K|SLC28A1_ENST00000537216.1_Missense_Mutation_p.E321K	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	321					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding	p.E321K(1)		breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTTGCAGACCGAGGCTCCATT	0.567													A	85467219	G	A	85467219	3	1	473	1	0	0	0	0	1	0	0	0	14625	1059	37	1	1070	1	SLC28A1	15	85467219	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	40077329	85467219	17064173	57	44499											
MCTP2	55784	broad.mit.edu	37	chr15	94943169	94943169	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaagcaagtattaggaCttttactccccgggaaaagc	13	9	11	8	1	0	1	0	1	0	0	1	3	1	3	2	3	3	2	2	3	7	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr15:94943169C>G	ENST00000357742.4	+	15	1910	c.1910C>G	c.(1909-1911)aCt>aGt	p.T637S	MCTP2_ENST00000557742.1_Missense_Mutation_p.T225S|MCTP2_ENST00000451018.3_Missense_Mutation_p.T637S|MCTP2_ENST00000331706.4_Missense_Mutation_p.T225S	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	637					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			AGTATTAGGACTTTTACTCCC	0.448													G	94943169	C	G	94943169	3	3	473	1	0	0	0	0	1	0	0	0	9476	565	20	4	1968	4	MCTP2	15	94943169	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	9475950	94943169	7588223	58	44500											
SNX29	92017	broad.mit.edu	37	chr16	12571690	12571690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagtgagggcctacaacttcCcacccaaaaaggccattgga	14	6	9	12	0	0	1	0	1	0	0	1	2	1	2	4	3	2	0	4	3	5	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:12571690C>G	ENST00000566228.1	+	19	2221	c.2152C>G	c.(2152-2154)Cca>Gca	p.P718A	SNX29_ENST00000323433.4_Missense_Mutation_p.P333A|SNX29_ENST00000306030.3_Missense_Mutation_p.P333A	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	333					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						CTACAACTTCCCACCCAAAAA	0.438													G	12571690	C	G	12571690	3	3	473	1	0	0	0	0	1	0	0	0	14992	623	22	4	1039	4	SNX29	16	12571690	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		12571690	77783063	59	44501											
ACSM2A	123876	broad.mit.edu	37	chr16	20477031	20477031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtggtggctggtgatcCtgggctgcattcgagcaggt	5	11	17	8	1	0	2	0	2	0	0	2	3	1	2	1	5	2	4	1	5	0	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:20477031C>T	ENST00000573854.1	+	3	484	c.370C>T	c.(370-372)Ctg>Ttg	p.L124L	ACSM2A_ENST00000396104.2_Silent_p.L124L|ACSM2A_ENST00000417235.2_Silent_p.L45L|ACSM2A_ENST00000536134.1_5'UTR|ACSM2A_ENST00000424070.1_Silent_p.L124L|ACSM2A_ENST00000219054.6_Silent_p.L124L|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000575690.1_Silent_p.L124L	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	124					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GCTGGTGATCCTGGGCTGCAT	0.582													T	20477031	C	T	20477031	2	4	473	1	0	0	0	0	0	0	0	1	183	680	24	2		2	ACSM2A	16	20477031	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	7905341	20477031	69877722	60	44502											
ADCY7	113	broad.mit.edu	37	chr16	50347883	50347883	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctcctactgaagccCaagttcagcggcgtggagaa	10	7	12	12	2	1	2	1	1	0	1	2	3	2	2	2	2	5	3	2	2	4	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:50347883C>G	ENST00000394697.2	+	23	3106	c.2766C>G	c.(2764-2766)ccC>ccG	p.P922P	ADCY7_ENST00000254235.3_Silent_p.P922P			P51828	ADCY7_HUMAN	adenylate cyclase 7	922	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TACTGAAGCCCAAGTTCAGCG	0.617													G	50347883	C	G	50347883	2	3	473	1	0	0	0	0	0	0	0	1	299	581	21	4		4	ADCY7	16	50347883	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	29870852	50347883	40006870	61	44503											
IRX6	79190	broad.mit.edu	37	chr16	55361633	55361633	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagaagatcatgctggcCatcatcaccaagatgaccct	12	8	10	11	0	3	4	3	2	0	3	3	5	3	4	3	2	1	1	3	2	2	0			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:55361633C>G	ENST00000290552.7	+	4	1881	c.549C>G	c.(547-549)gcC>gcG	p.A183A	IRX6_ENST00000558315.1_3'UTR|RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	183						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						TCATGCTGGCCATCATCACCA	0.572													G	55361633	C	G	55361633	2	3	473	1	0	0	0	0	0	0	0	1	7906	581	21	4		4	IRX6	16	55361633	Silent	SNP	C	TCGA-FG-6688-01A-11D-1893-08	5013750	55361633	34993120	62	44504											
HYDIN	54768	broad.mit.edu	37	chr16	70902514	70902514	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggcatgtttctgggtaCgtccacccacttgactgtgt	6	12	10	13	1	1	1	0	1	1	0	2	1	2	1	3	2	1	3	3	2	1	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:70902514C>T	ENST00000393567.2	-	66	11419	c.11269G>A	c.(11269-11271)Gta>Ata	p.V3757I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3757										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTTCTGGGTACGTCCACCCAC	0.527													T	70902514	C	T	70902514	3	4	473	1	0	0	0	0	1	0	0	0	7525	536	19	1	4180	1	HYDIN	16	70902514	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	15540881	70902514	19452239	63	44505											
ZNF276	92822	broad.mit.edu	37	chr16	89804475	89804475	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgagctggactttgccTgtgaccagtgtggccggcgg	6	9	16	10	2	0	3	0	2	0	1	0	4	0	4	3	4	2	1	3	4	0	1			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr16:89804475T>A	ENST00000289816.5	+	11	1753	c.1441T>A	c.(1441-1443)Tgt>Agt	p.C481S	ZNF276_ENST00000568064.1_3'UTR|ZNF276_ENST00000446326.2_Missense_Mutation_p.C342S|FANCA_ENST00000389301.3_3'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.C556S	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	556					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GGACTTTGCCTGTGACCAGTG	0.597													A	89804475	T	A	89804475	3	1	473	1	0	0	0	0	1	0	0	0	17912	1580	55	5	1708	5	ZNF276	16	89804475	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	18901961	89804475	550278	64	44506											
USP6	9098	broad.mit.edu	37	chr17	5072170	5072170	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagtgcttttttggtaccaCgagacccggccctctgccag	6	10	11	14	3	1	1	0	0	1	1	1	3	1	1	4	2	3	2	4	2	1	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:5072170C>T	ENST00000574788.1	+	35	5567	c.3337C>T	c.(3337-3339)Cga>Tga	p.R1113*	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000250066.6_Nonsense_Mutation_p.R1113*|USP6_ENST00000304328.5_Nonsense_Mutation_p.R796*			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	1113					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						TTTGGTACCACGAGACCCGGC	0.473			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5072170	C	T	5072170	4	4	473	1	0	0	0	0	0	1	0	0	17188	528	19	1	3439	1	USP6	17	5072170	Nonsense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		5072170	76123040	65	44507											
DLG4	1742	broad.mit.edu	37	chr17	7106755	7106755	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttactacctttaggcccctTgatgagcttgatctccatga	8	14	8	11	0	1	4	0	4	1	0	2	4	1	4	4	1	3	2	4	1	3	6			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7106755T>G	ENST00000399510.2	-	8	1474	c.622A>C	c.(622-624)Aag>Cag	p.K208Q	DLG4_ENST00000302955.6_Missense_Mutation_p.K162Q|DLG4_ENST00000399506.2_Missense_Mutation_p.K165Q|DLG4_ENST00000485100.1_Missense_Mutation_p.K162Q	NM_001365.3	NP_001356.1	P78352	DLG4_HUMAN	discs, large homolog 4 (Drosophila)	165	PDZ 2.				axon guidance|learning|protein complex assembly|protein localization to synapse|signal transduction|synaptic transmission	cell junction|cortical cytoskeleton|endocytic vesicle membrane|neuron spine|postsynaptic density|postsynaptic membrane|synaptosome	protein binding|protein C-terminus binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)	18						TTAGGCCCCTTGATGAGCTTG	0.607													G	7106755	T	G	7106755	3	3	473	1	0	0	0	0	1	0	0	0	4596	1821	63	5	1741	5	DLG4	17	7106755	Missense_Mutation	SNP	T	TCGA-FG-6688-01A-11D-1893-08	2034585	7106755	74088455	66	44508											
YBX2	51087	broad.mit.edu	37	chr17	7193769	7193769	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggaggccgggggatgaatCggcgggacttacgtcggttg	7	7	20	7	5	0	1	0	1	0	0	2	4	0	4	1	7	1	1	1	7	2	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:7193769C>T	ENST00000007699.5	-	5	608	c.545G>A	c.(544-546)cGa>cAa	p.R182Q	YBX2_ENST00000570627.1_5'UTR	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	182					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GGGGATGAATCGGCGGGACTT	0.642													T	7193769	C	T	7193769	3	4	473	1	0	0	0	0	1	0	0	0	17572	884	31	1	565	1	YBX2	17	7193769	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	87014	7193769	74001441	67	44509											
NF1	4763	broad.mit.edu	37	chr17	29553568	29553568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactgaagctgttctggttgCcatgtcctgtttccgccacc	5	13	9	14	1	1	1	0	1	1	0	3	1	3	1	5	1	2	4	5	1	1	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:29553568C>T	ENST00000358273.4	+	18	2500	c.2117C>T	c.(2116-2118)gCc>gTc	p.A706V	NF1_ENST00000356175.3_Missense_Mutation_p.A706V	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	706					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GTTCTGGTTGCCATGTCCTGT	0.527			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29553568	C	T	29553568	3	4	473	1	0	0	0	0	1	0	0	0	10432	739	26	2	2248	2	NF1	17	29553568	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	22359799	29553568	51641642	68	44510											
MYO1D	4642	broad.mit.edu	37	chr17	31107759	31107759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtaagggttcacagaaaCgacgacttctccaatgaacg	13	9	9	10	3	2	2	1	1	1	1	3	4	2	2	1	1	2	2	1	1	4	4			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:31107759C>T	ENST00000318217.5	-	2	443	c.139G>A	c.(139-141)Gtt>Att	p.V47I	MYO1D_ENST00000394649.4_5'UTR|MYO1D_ENST00000579584.1_Missense_Mutation_p.V47I|MYO1D_ENST00000583621.1_Missense_Mutation_p.V47I	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	47	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TTCACAGAAACGACGACTTCT	0.423													T	31107759	C	T	31107759	3	4	473	1	0	0	0	0	1	0	0	0	10147	536	19	1	2965	1	MYO1D	17	31107759	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	1554191	31107759	50087451	69	44511											
CUEDC1	404093	broad.mit.edu	37	chr17	55946527	55946527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctgaataaggcatcttcaGacacagcggggttggcgtcg	9	8	13	11	3	2	2	1	1	1	1	3	2	2	2	1	4	1	2	1	4	2	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr17:55946527G>A	ENST00000577830.1	-	7	1309	c.896C>T	c.(895-897)tCt>tTt	p.S299F	CUEDC1_ENST00000360238.2_Missense_Mutation_p.S299F|CUEDC1_ENST00000577840.1_Missense_Mutation_p.S162F|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000407144.2_Missense_Mutation_p.S299F	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	299										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						GGCATCTTCAGACACAGCGGG	0.617													A	55946527	G	A	55946527	3	1	473	1	0	0	0	0	1	0	0	0	4085	942	33	2	280	2	CUEDC1	17	55946527	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	24838768	55946527	25248683	70	44512											
CYP4F3	4051	broad.mit.edu	37	chr19	15763404	15763404	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgggaagaagttgtccgAtgaggacataagagcagaag	16	6	15	4	1	0	5	0	1	0	4	1	8	1	7	1	2	1	2	1	2	4	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr19:15763404A>T	ENST00000221307.8	+	8	991	c.944A>T	c.(943-945)gAt>gTt	p.D315V	CYP4F3_ENST00000586182.2_Missense_Mutation_p.D315V|CYP4F3_ENST00000585846.1_Missense_Mutation_p.D315V|CYP4F3_ENST00000591058.1_Missense_Mutation_p.D315V	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						AAGTTGTCCGATGAGGACATA	0.522													T	15763404	A	T	15763404	3	4	473	1	0	0	0	0	1	0	0	0	4223	333	12	5	970	5	CYP4F3	19	15763404	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08		15763404	43365579	71	44513											
TSHZ2	128553	broad.mit.edu	37	chr20	51872726	51872726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtaccagcttaggaaaaCgggcgggacaaaatttctga	15	7	11	8	2	1	1	0	1	1	0	1	3	1	3	1	3	3	2	1	3	7	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chr20:51872726C>T	ENST00000371497.5	+	2	3616	c.2729C>T	c.(2728-2730)aCg>aTg	p.T910M	TSHZ2_ENST00000603338.2_Missense_Mutation_p.T907M|RP4-678D15.1_ENST00000606932.1_RNA|TSHZ2_ENST00000329613.6_Missense_Mutation_p.T907M	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	910					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			CTTAGGAAAACGGGCGGGACA	0.488													T	51872726	C	T	51872726	3	4	473	1	0	0	0	0	1	0	0	0	16725	536	19	1	2735	1	TSHZ2	20	51872726	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08		51872726	11152794	72	44514											
GRPR	2925	broad.mit.edu	37	chrX	16168588	16168588	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggaaagcaccaaccagAccttcattagctgtgcccca	13	7	8	13	0	1	2	1	1	0	1	1	3	1	3	5	1	4	2	5	1	3	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:16168588A>G	ENST00000380289.2	+	2	972	c.574A>G	c.(574-576)Acc>Gcc	p.T192A		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	192					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CACCAACCAGACCTTCATTAG	0.502													G	16168588	A	G	16168588	3	3	473	1	0	0	0	0	1	0	0	0	6863	275	10	3	580	3	GRPR	23	16168588	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08		16168588	139101972	73	44515											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29972757	29972757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctacctgatatgcttgaaaaGcattatggatataagttgtt	13	15	8	5	0	0	2	0	2	0	0	0	3	0	3	1	1	3	4	1	1	7	8			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:29972757G>T	ENST00000378993.1	+	10	1993	c.1320G>T	c.(1318-1320)aaG>aaT	p.K440N	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K440N	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	440	TIR.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity	p.K440K(1)		biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TGCTTGAAAAGCATTATGGAT	0.373													T	29972757	G	T	29972757	3	4	473	1	0	0	0	0	1	0	0	0	7719	962	34	4	1354	4	IL1RAPL1	23	29972757	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	13804169	29972757	125297803	74	44516											
TMEM47	83604	broad.mit.edu	37	chrX	34648526	34648526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggccaggccataaccccaGttgaactcatggtaaatttt	12	10	8	11	0	1	1	1	1	0	0	1	1	1	1	4	3	2	2	4	3	4	5			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34648526G>T	ENST00000275954.3	-	3	708	c.450C>A	c.(448-450)aaC>aaA	p.N150K		NM_031442.3	NP_113630.1	Q9BQJ4	TMM47_HUMAN	transmembrane protein 47	150						integral to membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CATAACCCCAGTTGAACTCAT	0.428													T	34648526	G	T	34648526	3	4	473	1	0	0	0	0	1	0	0	0	16271	1020	36	4	99	4	TMEM47	23	34648526	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	4675769	34648526	120622034	75	44517											
FAM47B	170062	broad.mit.edu	37	chrX	34962764	34962764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggctacagaatgcctggcGtcattgaaaagctgtttgcc	10	10	12	9	1	1	2	1	1	0	1	1	2	1	2	2	2	4	3	2	2	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:34962764G>A	ENST00000329357.5	+	1	1852	c.1816G>A	c.(1816-1818)Gtc>Atc	p.V606I		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	606								p.V606I(1)		breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						AATGCCTGGCGTCATTGAAAA	0.438													A	34962764	G	A	34962764	3	1	473	1	0	0	0	0	1	0	0	0	5621	1145	40	1	1818	1	FAM47B	23	34962764	Missense_Mutation	SNP	G	TCGA-FG-6688-01A-11D-1893-08	314238	34962764	120307796	76	44518											
MAGEE2	139599	broad.mit.edu	37	chrX	75003755	75003755	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttgctggacaaggaggtAgatgtgctcactggtatcaa	10	11	14	6	0	2	1	2	0	0	1	2	3	2	3	0	5	2	5	0	5	4	3			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:75003755A>C	ENST00000373359.2	-	1	1324	c.1132T>G	c.(1132-1134)Tac>Gac	p.Y378D		NM_138703.4	NP_619648.1	Q8TD90	MAGE2_HUMAN	melanoma antigen family E, 2	378	MAGE 2.									autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ACAAGGAGGTAGATGTGCTCA	0.433													C	75003755	A	C	75003755	3	2	473	1	0	0	0	0	1	0	0	0	9261	420	15	5	443	5	MAGEE2	23	75003755	Missense_Mutation	SNP	A	TCGA-FG-6688-01A-11D-1893-08	40040991	75003755	80266805	77	44519											
PLXNA3	55558	broad.mit.edu	37	chrX	153698493	153698493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccgagatctacctgacaCggctgctggccaccaaggta	9	8	10	14	2	2	2	0	1	2	1	3	3	2	2	4	3	2	3	4	3	3	2			TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:153698493C>T	ENST00000369682.3	+	29	5144	c.4969C>T	c.(4969-4971)Cgg>Tgg	p.R1657W	PLXNA3_ENST00000493546.1_3'UTR	NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1657					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CTACCTGACACGGCTGCTGGC	0.617													T	153698493	C	T	153698493	3	4	473	1	0	0	0	0	1	0	0	0	12198	527	19	1	5079	1	PLXNA3	23	153698493	Missense_Mutation	SNP	C	TCGA-FG-6688-01A-11D-1893-08	78694738	153698493	1572067	78	44520											
F8	2157	broad.mit.edu	37	chrX	154159063	154159063	+	Frame_Shift_Del	DEL	G	G	-																															cattatctttagtcaacaaaGcaggtccatgagctcttttc																										TCGA-FG-6688-01A-11D-1893-08	TCGA-FG-6688-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2f93c396-7e42-4ae7-b954-028d5214671d	3a55f162-2e11-46f9-8c0a-4a1f473997ff	g.chrX:154159063delG	ENST00000360256.4	-	14	3202	c.3002delC	c.(3001-3003)gctfs	p.A1001fs		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1001	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	AGTCAACAAAGCAGGTCCATG	0.343													-	154159063	G	-	154159063	7	5	473	1	0	1	0	1	0	0	0	0	5392	971	34	0	4133	0	F8	23	154159063	Frame_Shift_Del	DEL	G	TCGA-FG-6688-01A-11D-1893-08	460570	154159063	1111497	79	44521											
ANTXR1	84168	broad.mit.edu	37	chr2	69329991	69329991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtcatttcaagttgtcGtgagaggaaacggcttccga	11	10	12	8	3	2	2	2	1	0	2	4	5	3	3	1	2	1	2	1	2	2	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:69329991G>A	ENST00000303714.4	+	10	1043	c.721G>A	c.(721-723)Gtg>Atg	p.V241M	ANTXR1_ENST00000409349.3_Missense_Mutation_p.V241M|ANTXR1_ENST00000409829.3_Missense_Mutation_p.V241M	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	241					actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TCAAGTTGTCGTGAGAGGAAA	0.473									Familial Infantile Hemangioma				A	69329991	G	A	69329991	3	1	474	1	0	0	0	0	1	0	0	0	711	1145	40	1	759	1	ANTXR1	2	69329991	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		69329991	173869382	1	44522											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	474	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	139783121	209113112	34086261	2	44523											
ZNF827	152485	broad.mit.edu	37	chr4	146813423	146813423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggatttgagattgtccttgCgagcacaccggaatggacag	10	9	14	8	2	0	1	0	1	0	1	1	6	1	4	2	3	2	1	2	3	1	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr4:146813423C>T	ENST00000508784.1	-	3	1465	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	ZNF827_ENST00000513320.1_Missense_Mutation_p.R63H|ZNF827_ENST00000379448.4_Missense_Mutation_p.R413H			Q17R98	ZN827_HUMAN	zinc finger protein 827	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48	all_hematologic(180;0.151)					ATTGTCCTTGCGAGCACACCG	0.512													T	146813423	C	T	146813423	3	4	474	1	0	0	0	0	1	0	0	0	18279	768	27	1	2039	1	ZNF827	4	146813423	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08		146813423	44340853	3	44524											
FYB	2533	broad.mit.edu	37	chr5	39126188	39126188	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttccctttaacatcttcaAaatcccccaggaccacgtat	11	13	3	14	1	2	0	1	0	1	0	4	1	4	1	4	1	1	1	4	1	4	6			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:39126188A>G	ENST00000505428.1	-	12	2114	c.1957T>C	c.(1957-1959)Ttg>Ctg	p.L653L	FYB_ENST00000512982.1_Silent_p.L653L|FYB_ENST00000515010.1_Intron|FYB_ENST00000540520.1_Silent_p.L663L|FYB_ENST00000351578.6_Intron	NM_001465.4	NP_001456.3	O15117	FYB_HUMAN	FYN binding protein	636					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			AACATCTTCAAAATCCCCCAG	0.408													G	39126188	A	G	39126188	2	3	474	1	0	0	0	0	0	0	0	1	6176	11	1	3		3	FYB	5	39126188	Silent	SNP	A	TCGA-FG-6689-01A-11D-1893-08		39126188	141789072	4	44525											
SMAD5	4090	broad.mit.edu	37	chr5	135510116	135510116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgcggaatgcctcagtgAcagcagcatatttgtacaga	12	10	11	8	1	1	2	1	1	0	1	1	3	1	3	1	1	5	4	1	1	4	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:135510116A>G	ENST00000545279.1	+	7	1409	c.1049A>G	c.(1048-1050)gAc>gGc	p.D350G	SMAD5_ENST00000514641.2_3'UTR|SMAD5_ENST00000545620.1_Missense_Mutation_p.D350G	NM_001001419.1|NM_005903.5	NP_001001419.1|NP_005894.3	Q99717	SMAD5_HUMAN	SMAD family member 5	350	MH2.				BMP signaling pathway|embryonic pattern specification|positive regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|ubiquitin protein ligase binding			central_nervous_system(1)|large_intestine(4)|lung(3)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCCTCAGTGACAGCAGCATA	0.418													G	135510116	A	G	135510116	3	3	474	1	0	0	0	0	1	0	0	0	14855	275	10	3	1067	3	SMAD5	5	135510116	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	96383928	135510116	45405144	5	44526											
TRIM7	81786	broad.mit.edu	37	chr5	180622600	180622600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaggtcctgggcccgctCgccgaggcgcacgcccttaa	5	5	15	16	5	0	0	0	0	0	0	2	1	1	0	4	4	0	3	4	4	1	1			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr5:180622600C>T	ENST00000393315.1	-	7	1175	c.478G>A	c.(478-480)Gag>Aag	p.E160K	TRIM7_ENST00000361809.3_Missense_Mutation_p.E160K|CTC-338M12.6_ENST00000512508.1_RNA|TRIM7_ENST00000504241.1_5'UTR|TRIM7_ENST00000274773.7_Missense_Mutation_p.E368K|TRIM7_ENST00000422067.2_Missense_Mutation_p.E160K|TRIM7_ENST00000393319.3_Missense_Mutation_p.E186K	NM_203296.1	NP_976041.1	Q9C029	TRIM7_HUMAN	tripartite motif containing 7	368						cytoplasm|nucleus	zinc ion binding			NS(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)|stomach(1)	17	all_cancers(89;6.03e-06)|all_epithelial(37;7.1e-07)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000172)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;2e-06)|Epithelial(171;1.35e-05)|OV - Ovarian serous cystadenocarcinoma(192;0.000128)|Kidney(146;0.0674)|GBM - Glioblastoma multiforme(465;0.0802)		TGGGCCCGCTCGCCGAGGCGC	0.667													T	180622600	C	T	180622600	3	4	474	1	0	0	0	0	1	0	0	0	16644	893	31	1	437	1	TRIM7	5	180622600	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	45112484	180622600	292660	6	44527											
OR2H2	7932	broad.mit.edu	37	chr6	29556539	29556539	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agagaggggcaagttctttgGtctcttctatgcagtgggca	8	12	14	7	0	3	1	0	0	3	1	4	2	3	1	0	4	1	4	0	4	2	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:29556539G>C	ENST00000383640.2	+	1	857	c.818G>C	c.(817-819)gGt>gCt	p.G273A	GABBR1_ENST00000355973.3_Intron	NM_007160.3	NP_009091.3	O95918	OR2H2_HUMAN	olfactory receptor, family 2, subfamily H, member 2	273					defense response|mating|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|urinary_tract(1)	14						AAGTTCTTTGGTCTCTTCTAT	0.512													C	29556539	G	C	29556539	3	2	474	1	0	0	0	0	1	0	0	0	11078	1261	44	4	820	4	OR2H2	6	29556539	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		29556539	141558528	7	44528											
MDC1	9656	broad.mit.edu	37	chr6	30679448	30679448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagaagtcctcaccttcCaggccctgattctccagaaa	12	8	6	15	0	2	3	1	1	1	2	5	3	4	3	5	1	0	0	5	1	2	2			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:30679448C>T	ENST00000376406.3	-	6	2771	c.2124G>A	c.(2122-2124)ctG>ctA	p.L708L	MDC1-AS1_ENST00000442150.1_RNA|MDC1_ENST00000376405.2_Silent_p.L708L|MDC1_ENST00000494654.1_5'UTR	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	708				Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CCTCACCTTCCAGGCCCTGAT	0.468								Other conserved DNA damage response genes					T	30679448	C	T	30679448	2	4	474	1	0	0	0	0	0	0	0	1	9478	581	21	2		2	MDC1	6	30679448	Silent	SNP	C	TCGA-FG-6689-01A-11D-1893-08	1122909	30679448	140435619	8	44529											
KATNA1	11104	broad.mit.edu	37	chr6	149959574	149959574	+	Frame_Shift_Del	DEL	T	T	-																															tgactgagtacagatacttgTtcatttggtcaagaactccc																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr6:149959574delT	ENST00000367411.2	-	2	368	c.110delA	c.(109-111)aacfs	p.N37fs	KATNA1_ENST00000335647.5_Frame_Shift_Del_p.N37fs|KATNA1_ENST00000335643.8_Frame_Shift_Del_p.N37fs	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	37	Interaction with microtubule.				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		CAGATACTTGTTCATTTGGTC	0.403													-	149959574	T	-	149959574	7	5	474	1	0	1	0	1	0	0	0	0	8042	1725	60	0	1405	0	KATNA1	6	149959574	Frame_Shift_Del	DEL	T	TCGA-FG-6689-01A-11D-1893-08	119280126	149959574	21155493	9	44530											
MET	4233	broad.mit.edu	37	chr7	116397529	116397529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccatgaataagcattTcaatatgtccataattattt	13	16	4	8	0	1	1	1	1	0	0	3	1	3	1	3	0	2	1	3	0	6	6			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr7:116397529T>C	ENST00000397752.3	+	7	2101	c.1901T>C	c.(1900-1902)tTc>tCc	p.F634S	MET_ENST00000318493.6_Missense_Mutation_p.F634S|MET_ENST00000436117.2_Missense_Mutation_p.F634S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	634	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AATAAGCATTTCAATATGTCC	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				C	116397529	T	C	116397529	3	2	474	1	0	0	0	0	1	0	0	0	9560	1783	62	3	1923	3	MET	7	116397529	Missense_Mutation	SNP	T	TCGA-FG-6689-01A-11D-1893-08		116397529	42741134	10	44531											
SULF1	23213	broad.mit.edu	37	chr8	70513977	70513977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttaccatattgggcagtttgGactggtcaaggggaaatcca	11	11	12	7	0	1	0	1	0	0	0	2	2	2	2	2	5	1	2	2	5	4	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:70513977G>C	ENST00000260128.4	+	10	1691	c.974G>C	c.(973-975)gGa>gCa	p.G325A	SULF1_ENST00000419716.3_Missense_Mutation_p.G325A|SULF1_ENST00000402687.4_Missense_Mutation_p.G325A|SULF1_ENST00000458141.2_Missense_Mutation_p.G325A|SULF1_ENST00000521946.1_3'UTR	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	325					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GGGCAGTTTGGACTGGTCAAG	0.448													C	70513977	G	C	70513977	3	2	474	1	0	0	0	0	1	0	0	0	15466	1174	41	4	996	4	SULF1	8	70513977	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		70513977	75850045	11	44532											
CA1	759	broad.mit.edu	37	chr8	86244738	86244738	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggttttaattgcttggAgggcatcaagtactttctgc	7	16	10	8	0	2	0	1	0	1	0	2	1	2	1	1	3	3	4	1	3	3	7			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr8:86244738A>G	ENST00000523953.1	-	7	1540	c.494T>C	c.(493-495)cTc>cCc	p.L165P	CA1_ENST00000431316.1_Missense_Mutation_p.L165P|CA1_ENST00000256119.5_Missense_Mutation_p.L165P|CA1_ENST00000523022.1_Missense_Mutation_p.L165P|CA1_ENST00000432364.2_Missense_Mutation_p.L165P|CA1_ENST00000542576.1_Missense_Mutation_p.L165P|CA1_ENST00000522389.1_Intron			P00915	CAH1_HUMAN	carbonic anhydrase I	165					one-carbon metabolic process	Golgi apparatus	carbonate dehydratase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	13		all_lung(136;4.89e-06)			Acetazolamide(DB00819)|Amlodipine(DB00381)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dichlorphenamide(DB01144)|Ethinamate(DB01031)|Ethoxzolamide(DB00311)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Levetiracetam(DB01202)|Methazolamide(DB00703)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)|Verapamil(DB00661)|Zonisamide(DB00909)	AATTGCTTGGAGGGCATCAAG	0.328													G	86244738	A	G	86244738	3	3	474	1	0	0	0	0	1	0	0	0	2536	304	11	3	303	3	CA1	8	86244738	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	15730761	86244738	60119284	12	44533											
ACP2	53	broad.mit.edu	37	chr11	47264838	47264838	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggaggtggtcgccattagGgtcaggttcttccttatctg	5	14	14	8	1	3	0	1	0	2	0	5	1	4	1	2	5	0	1	2	5	2	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:47264838G>A	ENST00000256997.3	-	8	923	c.807C>T	c.(805-807)acC>acT	p.T269T	ACP2_ENST00000527256.1_Silent_p.T237T|ACP2_ENST00000525230.1_5'UTR|ACP2_ENST00000529444.1_Silent_p.T206T|ACP2_ENST00000533929.1_Silent_p.T241T|ACP2_ENST00000537863.1_Silent_p.T82T	NM_001610.2	NP_001601.1	P11117	PPAL_HUMAN	acid phosphatase 2, lysosomal	269						integral to membrane|lysosomal lumen|lysosomal membrane	acid phosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10						TCGCCATTAGGGTCAGGTTCT	0.562													A	47264838	G	A	47264838	2	1	474	1	0	0	0	0	0	0	0	1	163	1219	43	2		2	ACP2	11	47264838	Silent	SNP	G	TCGA-FG-6689-01A-11D-1893-08		47264838	87741678	13	44534											
DIXDC1	85458	broad.mit.edu	37	chr11	111865764	111865764	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaccaactacaacagtcacAactctcaaagcaatggtttt	15	9	5	12	1	2	0	2	0	1	0	3	1	2	0	1	1	5	2	1	1	6	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr11:111865764A>T	ENST00000440460.2	+	16	1753	c.1456A>T	c.(1456-1458)Aac>Tac	p.N486Y	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000315253.5_Missense_Mutation_p.N275Y	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	487					multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		CAACAGTCACAACTCTCAAAG	0.438													T	111865764	A	T	111865764	3	4	474	1	0	0	0	0	1	0	0	0	4580	130	5	5	1543	5	DIXDC1	11	111865764	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	64600926	111865764	23140752	14	44535											
KIF23	9493	broad.mit.edu	37	chr15	69714351	69714351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctttttacatatggtGtgacgggaagtggaaaaact	11	14	11	5	1	2	1	0	1	2	0	2	3	2	3	0	3	2	0	0	3	5	5			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr15:69714351G>A	ENST00000260363.4	+	5	454	c.337G>A	c.(337-339)Gtg>Atg	p.V113M	KIF23_ENST00000352331.4_Missense_Mutation_p.V113M|KIF23_ENST00000395392.2_Missense_Mutation_p.V113M|KIF23_ENST00000559279.1_Missense_Mutation_p.V113M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	113	Kinesin-motor.				blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TACATATGGTGTGACGGGAAG	0.408													A	69714351	G	A	69714351	3	1	474	1	0	0	0	0	1	0	0	0	8349	1377	48	2	355	2	KIF23	15	69714351	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		69714351	32817041	15	44536											
CTRL	1506	broad.mit.edu	37	chr16	67963919	67963919	+	Frame_Shift_Del	DEL	T	T	-																															caggtgcgcgcacattgcagTttttggtgccccaggagaca																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr16:67963919delT	ENST00000574481.1	-	7	1274	c.713delA	c.(712-714)aacfs	p.N238fs		NM_001907.2	NP_001898.1	P40313	CTRL_HUMAN	chymotrypsin-like	238	Peptidase S1.				digestion|proteolysis	extracellular space	serine-type endopeptidase activity			kidney(1)|large_intestine(2)|urinary_tract(1)	4		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00412)|Epithelial(162;0.018)|all cancers(182;0.118)		CACATTGCAGTTTTTGGTGCC	0.552													-	67963919	T	-	67963919	7	5	474	1	0	1	0	1	0	0	0	0	4061	1725	60	0	85	0	CTRL	16	67963919	Frame_Shift_Del	DEL	T	TCGA-FG-6689-01A-11D-1893-08		67963919	22390834	16	44537											
TP53	7157	broad.mit.edu	37	chr17	7579346	7579348	+	In_Frame_Del	DEL	AAG	AAG	-																															acttggctgtcccagaatgcAagaagcccagacggaaaccg																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579346_7579348delAAG	ENST00000420246.2	-	4	471_473	c.339_341delCTT	c.(337-342)ttcttg>ttg	p.F113del	TP53_ENST00000269305.4_In_Frame_Del_p.F113del|TP53_ENST00000413465.2_In_Frame_Del_p.F113del|TP53_ENST00000455263.2_In_Frame_Del_p.F113del|TP53_ENST00000359597.4_In_Frame_Del_p.F113del|TP53_ENST00000445888.2_In_Frame_Del_p.F113del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	113	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (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.0?(8)|p.L114*(4)|p.F113L(3)|p.G59fs*23(3)|p.F113C(2)|p.F113del(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.L114fs*30(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)		CCCAGAATGCAAGAAGCCCAGAC	0.601		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)			-	7579348	AAG	-	7579346	7	5	474	1	0	1	0	1	0	0	0	0	16482	131	5	0	961	0	TP53	17	7579346	In_Frame_Del	DEL	AAG	TCGA-FG-6689-01A-11D-1893-08		7579346	73615864	17	44538											
TP53	7157	broad.mit.edu	37	chr17	7579589	7579590	+	Splice_Site	INS	-	-	A																															tgcttgggacggcaagggggINSactgtagatgggtgaaaaga																										TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:7579589_7579590insA	ENST00000420246.2	-	4	229_230	c.97_98insT	c.(97-99)tcc>tTcc	p.S33fs	TP53_ENST00000269305.4_Splice_Site_p.S33fs|TP53_ENST00000413465.2_Splice_Site_p.S33fs|TP53_ENST00000455263.2_Splice_Site_p.S33fs|TP53_ENST00000359597.4_Splice_Site_p.S33fs|TP53_ENST00000445888.2_Splice_Site_p.S33fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	33	Interaction with HRMT1L2.|Transcription activation (acidic).		S -> T (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.0?(8)|p.L35fs*10(3)|p.L35fs*9(2)|p.?(1)|p.S33fs*23(1)|p.S33fs*11(1)|p.S33fs*10(1)|p.S33T(1)|p.P13fs*18(1)|p.S33fs*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)		CGGCAAGGGGGACTGTAGATGG	0.594		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)			A	7579590	-	A	7579589	8	5	474	1	0	1	1	0	0	0	1	0	16482	1188	41	0	1204	0	TP53	17	7579589	Splice_Site	INS	-	TCGA-FG-6689-01A-11D-1893-08	243	7579589	73615621	18	44539											
SLC47A2	146802	broad.mit.edu	37	chr17	19606453	19606453	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttcaggatgcttatcAgggtgcccaggaccagggaa	10	10	13	8	0	2	0	2	0	0	0	2	4	2	3	2	4	2	1	2	4	2	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:19606453A>G	ENST00000350657.5	-	13	1262	c.1088T>C	c.(1087-1089)cTg>cCg	p.L363P	SLC47A2_ENST00000463318.1_Intron|SLC47A2_ENST00000325411.5_Missense_Mutation_p.L385P	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	385						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					GATGCTTATCAGGGTGCCCAG	0.483													G	19606453	A	G	19606453	3	3	474	1	0	0	0	0	1	0	0	0	14742	188	7	3	678	3	SLC47A2	17	19606453	Missense_Mutation	SNP	A	TCGA-FG-6689-01A-11D-1893-08	12026864	19606453	61588757	19	44540											
SGCA	6442	broad.mit.edu	37	chr17	48246530	48246530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccccgatagccacgcccGctgtgcccagggccagcctc	6	5	10	20	3	0	0	0	0	0	0	2	1	1	0	7	1	3	1	7	1	1	1	rs138254713	by1000genomes	TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr17:48246530G>A	ENST00000262018.3	+	6	698	c.662G>A	c.(661-663)cGc>cAc	p.R221H	SGCA_ENST00000543315.1_Intron|SGCA_ENST00000513942.1_Intron|SGCA_ENST00000344627.6_Intron|SGCA_ENST00000451235.2_Missense_Mutation_p.R119H	NM_000023.2	NP_000014.1	Q16586	SGCA_HUMAN	sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)	221					muscle contraction|muscle organ development	cytoplasm|cytoskeleton|integral to membrane|sarcoglycan complex|sarcolemma	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(2)|skin(1)	14						AGCCACGCCCGCTGTGCCCAG	0.577											OREG0024558	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48246530	G	A	48246530	3	1	474	1	0	0	0	0	1	0	0	0	14292	1087	38	1	684	1	SGCA	17	48246530	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08	28640077	48246530	32948680	20	44541											
ANKRD30B	374860	broad.mit.edu	37	chr18	14843023	14843023	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttccaaacccgtttagCctgccactgaaatgcaaaac	12	11	5	13	1	1	1	0	1	1	0	2	1	2	1	4	0	5	2	4	0	5	4			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:14843023C>G	ENST00000358984.4	+	33	2932	c.2752C>G	c.(2752-2754)Cct>Gct	p.P918A		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1003										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCGTTTAGCCTGCCACTGA	0.289													G	14843023	C	G	14843023	5	3	474	1	0	0	0	0	0	0	1	0	659	753	26	4	2882	4	ANKRD30B	18	14843023	Splice_Site	SNP	C	TCGA-FG-6689-01A-11D-1893-08		14843023	63234225	21	44542											
TSHZ1	10194	broad.mit.edu	37	chr18	72998072	72998072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagaacaacaagctctacgGctccgtcttcacgggcgcca	10	6	9	16	4	3	1	1	0	2	1	4	1	4	1	3	2	4	2	3	2	4	2			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr18:72998072G>A	ENST00000322038.5	+	2	1159	c.575G>A	c.(574-576)gGc>gAc	p.G192D	TSHZ1_ENST00000580243.1_Missense_Mutation_p.G237D	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	237	Ser-rich.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AAGCTCTACGGCTCCGTCTTC	0.617													A	72998072	G	A	72998072	3	1	474	1	0	0	0	0	1	0	0	0	16724	1203	42	2	577	2	TSHZ1	18	72998072	Missense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08	58155049	72998072	5079176	22	44543											
S1PR5	53637	broad.mit.edu	37	chr19	10624526	10624526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgataccagagtccgggCggctgtgggtgcaccggggc	5	8	17	11	3	1	2	0	1	1	1	2	2	2	2	3	5	2	2	3	5	1	2			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr19:10624526C>T	ENST00000439028.3	-	2	1287	c.1162G>A	c.(1162-1164)Gcc>Acc	p.A388T	S1PR5_ENST00000333430.4_Missense_Mutation_p.A388T	NM_001166215.1	NP_001159687.1	Q9H228	S1PR5_HUMAN	sphingosine-1-phosphate receptor 5	388						integral to membrane|plasma membrane	lysosphingolipid and lysophosphatidic acid receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	12						AGAGTCCGGGCGGCTGTGGGT	0.612													T	10624526	C	T	10624526	3	4	474	1	0	0	0	0	1	0	0	0	13888	768	27	1	38	1	S1PR5	19	10624526	Missense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08		10624526	48504457	23	44544											
PLCB1	23236	broad.mit.edu	37	chr20	8665706	8665706	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactatttcattaattcctcGcacaacacctacctcacagg	12	11	3	15	1	2	0	2	0	0	0	4	0	3	0	3	1	2	1	3	1	4	5			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:8665706G>A	ENST00000378641.3	+	10	1465	c.990G>A	c.(988-990)tcG>tcA	p.S330S	PLCB1_ENST00000338037.6_Silent_p.S330S|PLCB1_ENST00000378637.2_Silent_p.S330S	NM_182734.1	NP_877398.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	330	PI-PLC X-box.				activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						TTAATTCCTCGCACAACACCT	0.418													A	8665706	G	A	8665706	2	1	474	1	0	0	0	0	0	0	0	1	12104	1074	38	1		1	PLCB1	20	8665706	Silent	SNP	G	TCGA-FG-6689-01A-11D-1893-08		8665706	54359814	24	44545											
BPI	671	broad.mit.edu	37	chr20	36953197	36953197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccaaaggagtccaaatttCgactgacaaccaagttcttt	13	12	6	10	1	1	1	0	1	1	0	4	3	3	2	3	1	1	1	3	1	4	4	rs150749170		TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr20:36953197C>T	ENST00000262865.4	+	9	1056	c.967C>T	c.(967-969)Cga>Tga	p.R323*	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	323					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				GTCCAAATTTCGACTGACAAC	0.512													T	36953197	C	T	36953197	4	4	474	1	0	0	0	0	0	1	0	0	1499	876	31	1	1001	1	BPI	20	36953197	Nonsense_Mutation	SNP	C	TCGA-FG-6689-01A-11D-1893-08	28287491	36953197	26072323	25	44546											
BAGE2	85319	broad.mit.edu	37	chr21	11038917	11038917	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgttggggaggaagAcacatctgccttgcttatgt	10	11	14	6	0	1	2	0	0	1	2	1	4	1	4	1	4	2	2	1	4	3	3			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chr21:11038917A>G	ENST00000470054.1	-	0	1286									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGGGAGGAAGACACATCTGCC	0.428													G	11038917	A	G	11038917	1	3	474	0	1	0	0	0	0	0	0	0	1297	290	10	3		3	BAGE2	21	11038917	RNA	SNP	A	TCGA-FG-6689-01A-11D-1893-08		11038917	37090978	26	44547											
ATRX	546	broad.mit.edu	37	chrX	76912104	76912104	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taacttcttcactaactcctGattcctgaaaatcagaatct	13	14	3	11	0	4	3	2	2	2	1	6	3	6	3	2	0	2	0	2	0	5	5			TCGA-FG-6689-01A-11D-1893-08	TCGA-FG-6689-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	00580e36-eea0-455e-90e7-f5ee7bd1cd7b	622315d2-4383-4daa-bbe1-6c1441db2ff8	g.chrX:76912104G>C	ENST00000373344.5	-	13	4374	c.4160C>G	c.(4159-4161)tCa>tGa	p.S1387*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1349*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1387					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)	ACTAACTCCTGATTCCTGAAA	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76912104	G	C	76912104	4	2	474	1	0	0	0	0	0	1	0	0	1213	1294	45	4	3410	4	ATRX	23	76912104	Nonsense_Mutation	SNP	G	TCGA-FG-6689-01A-11D-1893-08		76912104	78358456	27	44548											
ATAD3B	83858	broad.mit.edu	37	chr1	1431191	1431191	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccccccagggcaccccctGttgtaggcactggctaggga	6	7	13	15	0	0	0	0	0	0	0	0	1	0	1	5	4	1	5	5	4	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:1431191G>T	ENST00000308647.7	+	16	2057	c.1941G>T	c.(1939-1941)ctG>ctT	p.L647L		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	647							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GGCACCCCCTGTTGTAGGCAC	0.657													T	1431191	G	T	1431191	2	4	475	1	0	0	0	0	0	0	0	1	1079	1364	48	4		4	ATAD3B	1	1431191	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		1431191	247819430	1	44549											
PANK4	55229	broad.mit.edu	37	chr1	2440330	2440330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgacgctgaagagccGgccgcccagccgctcggcca	9	3	14	15	5	0	4	0	2	0	2	1	5	0	4	5	2	2	2	5	2	2	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:2440330G>A	ENST00000378466.3	-	19	2290	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	PANK4_ENST00000435556.3_Missense_Mutation_p.R721W	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	760					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		CTGAAGAGCCGGCCGCCCAGC	0.622													A	2440330	G	A	2440330	3	1	475	1	0	0	0	0	1	0	0	0	11495	1115	39	1	47	1	PANK4	1	2440330	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	1009139	2440330	246810291	2	44550											
SPEN	23013	broad.mit.edu	37	chr1	16242638	16242638	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagaaacagaaagtgaaaAtgaatttcgccccttggatg	16	9	9	7	1	0	4	0	2	0	2	1	5	0	5	2	1	2	0	2	1	6	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:16242638A>G	ENST00000375759.3	+	6	1463	c.1259A>G	c.(1258-1260)aAt>aGt	p.N420S		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	420					interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GAAAGTGAAAATGAATTTCGC	0.348													G	16242638	A	G	16242638	3	3	475	1	0	0	0	0	1	0	0	0	15134	101	4	3	1281	3	SPEN	1	16242638	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	13802308	16242638	233007983	3	44551											
CSMD2	114784	broad.mit.edu	37	chr1	34238304	34238304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccgggagccttccctcCggccatatgcaggtatgcca	9	7	11	14	2	0	0	0	0	0	0	2	2	2	1	6	3	4	2	6	3	3	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:34238304C>T	ENST00000373381.4	-	13	1888	c.1712G>A	c.(1711-1713)cGg>cAg	p.R571Q	CSMD2_ENST00000338325.1_Missense_Mutation_p.R179Q	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	531	Sushi 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GCCTTCCCTCCGGCCATATGC	0.522													T	34238304	C	T	34238304	3	4	475	1	0	0	0	0	1	0	0	0	3978	652	23	1	9099	1	CSMD2	1	34238304	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	17995666	34238304	215012317	4	44552											
ZZZ3	26009	broad.mit.edu	37	chr1	78041829	78041829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatccatatacactggcGgttcatgtgaagtcatgaaa	12	12	8	9	1	3	2	3	2	0	0	4	2	4	2	1	2	1	1	1	2	4	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:78041829G>A	ENST00000370801.3	-	12	2730	c.2255C>T	c.(2254-2256)cCg>cTg	p.P752L	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Missense_Mutation_p.P258L	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	752					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						ATACACTGGCGGTTCATGTGA	0.378													A	78041829	G	A	78041829	3	1	475	1	0	0	0	0	1	0	0	0	18353	1116	39	1	472	1	ZZZ3	1	78041829	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	43803525	78041829	171208792	5	44553											
RBMXL1	494115	broad.mit.edu	37	chr1	89448635	89448635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgtaagtggagcactaCgtgagttaccataactctca	11	11	9	10	2	1	1	1	1	1	0	3	2	1	2	1	1	4	3	1	1	4	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:89448635C>T	ENST00000399794.2	-	3	1590	c.875G>A	c.(874-876)cGt>cAt	p.R292H	CCBL2_ENST00000370491.3_Intron|RBMXL1_ENST00000321792.5_Missense_Mutation_p.R292H|CCBL2_ENST00000446900.2_Intron|CCBL2_ENST00000260508.4_Intron|CCBL2_ENST00000370485.2_Intron	NM_001162536.2	NP_001156008.1	Q96E39	RBMXL_HUMAN	RNA binding motif protein, X-linked-like 1	292	Ser-rich.						nucleotide binding|RNA binding										TGGAGCACTACGTGAGTTACC	0.483													T	89448635	C	T	89448635	3	4	475	1	0	0	0	0	1	0	0	0	13241	536	19	1	301	1	RBMXL1	1	89448635	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	11406806	89448635	159801986	6	44554											
NOTCH2	4853	broad.mit.edu	37	chr1	120471782	120471782	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccatgcactgaccaccatTaaggcaatggggaccccggg	11	6	11	13	1	0	1	0	1	0	0	1	2	1	2	5	4	1	2	5	4	2	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr1:120471782T>C	ENST00000256646.2	-	23	3928	c.3709A>G	c.(3709-3711)Aat>Gat	p.N1237D		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1237	EGF-like 32; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGACCACCATTAAGGCAATGG	0.507			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				C	120471782	T	C	120471782	3	2	475	1	0	0	0	0	1	0	0	0	10624	1754	61	3	3754	3	NOTCH2	1	120471782	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	31023147	120471782	128778839	7	44555											
NIF3L1	60491	broad.mit.edu	37	chr2	201757035	201757035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagaacagagtcggtatCtactctcctcatacagccta	11	10	8	12	1	3	2	1	0	2	2	5	3	3	2	2	2	4	1	2	2	5	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr2:201757035C>G	ENST00000409020.1	+	2	663	c.369C>G	c.(367-369)atC>atG	p.I123M	NIF3L1_ENST00000359683.4_Missense_Mutation_p.I96M|NIF3L1_ENST00000409357.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000409588.1_Missense_Mutation_p.I123M|NIF3L1_ENST00000416651.1_Missense_Mutation_p.I123M			Q9GZT8	NIF3L_HUMAN	NIF3 NGG1 interacting factor 3-like 1 (S. cerevisiae)	123					positive regulation of transcription, DNA-dependent		transcription factor binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)|urinary_tract(2)	13						GAGTCGGTATCTACTCTCCTC	0.527													G	201757035	C	G	201757035	3	3	475	1	0	0	0	0	1	0	0	0	10492	903	32	4	371	4	NIF3L1	2	201757035	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		201757035	41442338	8	44556											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	475	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	7356077	209113112	34086261	9	44557											
GBA3	57733	broad.mit.edu	37	chr4	22749784	22749785	+	RNA	DEL	TA	TA	-																															gtgggcaagacaggcatatgTatatatatatatatatatat																								rs73803318		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:22749784_22749785delTA	ENST00000511446.2	+	0	1087				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000508166.1_RNA	NM_001277225.1	NP_001264154.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CAGGCatatgtatatatatata	0.342													-	22749785	TA	-	22749784	6	5	475	0	1	1	0	1	0	0	0	0	6322	1653	57	0		0	GBA3	4	22749784	RNA	DEL	TA	TCGA-FG-6690-01A-11D-1893-08		22749784	168404492	10	44558											
FRYL	285527	broad.mit.edu	37	chr4	48517115	48517115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctttcagagctaaggtaaCatcctcttcacagactgact	11	12	6	12	0	4	3	2	1	2	2	5	3	5	3	1	1	2	2	1	1	2	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr4:48517115C>T	ENST00000358350.4	-	56	8471	c.7867G>A	c.(7867-7869)Gtt>Att	p.V2623I	FRYL_ENST00000537810.1_Missense_Mutation_p.V2623I|FRYL_ENST00000507873.2_Missense_Mutation_p.V19I|FRYL_ENST00000503238.1_Missense_Mutation_p.V2623I|FRYL_ENST00000264319.7_Missense_Mutation_p.V19I	NM_015030.1	NP_055845.1	O94915	FRYL_HUMAN	FRY-like	2623					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						GCTAAGGTAACATCCTCTTCA	0.423													T	48517115	C	T	48517115	3	4	475	1	0	0	0	0	1	0	0	0	6116	478	17	2	1210	2	FRYL	4	48517115	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	25767331	48517115	142637161	11	44559											
MSX2	4488	broad.mit.edu	37	chr5	174156254	174156254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	catcccagctcctcgccctgGagcgcaagttccgtcagaaa	9	7	9	16	3	1	1	1	0	0	1	5	2	4	2	4	1	2	3	4	1	2	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr5:174156254G>A	ENST00000239243.6	+	2	599	c.472G>A	c.(472-474)Gag>Aag	p.E158K	MSX2_ENST00000507785.1_3'UTR	NM_002449.4	NP_002440.2	P35548	MSX2_HUMAN	msh homeobox 2	158					cranial suture morphogenesis|negative regulation of transcription, DNA-dependent|osteoblast differentiation	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10	Renal(175;0.000159)|Lung NSC(126;0.0196)|all_lung(126;0.0303)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCTCGCCCTGGAGCGCAAGTT	0.552													A	174156254	G	A	174156254	3	1	475	1	0	0	0	0	1	0	0	0	9972	1175	41	2	478	2	MSX2	5	174156254	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		174156254	6759006	12	44560											
MUC21	394263	broad.mit.edu	37	chr6	30954953	30954953	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccaccaactctgAgtccagcacgacctccagtg	11	5	8	17	1	1	1	0	1	1	0	3	2	3	1	5	0	4	2	5	0	1	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:30954953A>T	ENST00000376296.3	+	2	1242	c.1001A>T	c.(1000-1002)gAg>gTg	p.E334V	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622													T	30954953	A	T	30954953	3	4	475	1	0	0	0	0	1	0	0	0	10053	304	11	5	1007	5	MUC21	6	30954953	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		30954953	140160114	13	44561											
DNAH8	1769	broad.mit.edu	37	chr6	38976646	38976646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattaccaacattcaacccaAagagagtggaggtggtgtgg	14	8	12	7	0	1	1	1	0	0	1	1	3	1	2	2	4	3	0	2	4	5	2			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:38976646A>G	ENST00000359357.3	+	87	12874	c.12620A>G	c.(12619-12621)aAa>aGa	p.K4207R	DNAH8_ENST00000441566.1_Missense_Mutation_p.K4171R					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ATTCAACCCAAAGAGAGTGGA	0.423													G	38976646	A	G	38976646	3	3	475	1	0	0	0	0	1	0	0	0	4646	14	1	3	12958	3	DNAH8	6	38976646	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	8021693	38976646	132138421	14	44562											
PHF10	55274	broad.mit.edu	37	chr6	170112612	170112612	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggctgtgtttaatggcagaTaccgcagctcatctggtgag	8	11	14	8	1	2	2	1	1	1	1	2	2	2	2	1	3	2	5	1	3	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr6:170112612T>C	ENST00000339209.4	-	8	950	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	PHF10_ENST00000366780.4_Missense_Mutation_p.Y274C	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	276	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		TAATGGCAGATACCGCAGCTC	0.438													C	170112612	T	C	170112612	3	2	475	1	0	0	0	0	1	0	0	0	11898	1406	49	3	689	3	PHF10	6	170112612	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	131135966	170112612	1002455	15	44563											
TWISTNB	221830	broad.mit.edu	37	chr7	19738083	19738083	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactgccttggaaaacaggGtcctggtcctgaacttcctg	8	11	10	12	0	1	1	1	1	0	0	4	2	4	2	4	3	3	0	4	3	3	2			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr7:19738083G>A	ENST00000222567.5	-	4	943	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	291	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						GGAAAACAGGGTCCTGGTCCT	0.438													A	19738083	G	A	19738083	2	1	475	1	0	0	0	0	0	0	0	1	16886	1252	44	2		2	TWISTNB	7	19738083	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		19738083	139400580	16	44564											
ZNF658	26149	broad.mit.edu	37	chr9	40774421	40774421	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaactttattgtattcaAcagcggtggttttgtcacag	9	16	10	6	1	2	1	2	1	0	0	2	1	2	1	0	2	3	2	0	2	4	7			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:40774421A>G	ENST00000602553.1	-	5	1148	c.854T>C	c.(853-855)gTt>gCt	p.V285A	ZNF658_ENST00000377626.3_Missense_Mutation_p.V285A|ZNF658_ENST00000441795.1_Missense_Mutation_p.V283A			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	285					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTGTATTCAACAGCGGTGGT	0.388													G	40774421	A	G	40774421	3	3	475	1	0	0	0	0	1	0	0	0	18170	43	2	3	2329	3	ZNF658	9	40774421	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		40774421	100439010	17	44565											
TNFSF15	9966	broad.mit.edu	37	chr9	117552881	117552881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaccagttgctacctacttCgcatacagacttggtcccca	10	10	7	14	1	0	1	0	0	0	1	2	2	1	1	4	1	5	3	4	1	4	6	rs150498686		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:117552881C>T	ENST00000374045.4	-	4	720	c.607G>A	c.(607-609)Gaa>Aaa	p.E203K	TNFSF15_ENST00000374044.1_Missense_Mutation_p.E126K	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	203					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTACCTACTTCGCATACAGAC	0.527													T	117552881	C	T	117552881	3	4	475	1	0	0	0	0	1	0	0	0	16408	893	31	1	152	1	TNFSF15	9	117552881	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	76778460	117552881	23660550	18	44566											
WDR5	11091	broad.mit.edu	37	chr9	137005847	137005847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacacctgtgaagccaaactAtgctctaaagttcacccttg	12	11	6	12	0	2	1	1	1	1	0	2	1	2	1	3	0	4	2	3	0	6	5			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr9:137005847A>G	ENST00000358625.3	+	3	275	c.104A>G	c.(103-105)tAt>tGt	p.Y35C	WDR5_ENST00000425041.1_Missense_Mutation_p.Y35C	NM_017588.2	NP_060058.1	P61964	WDR5_HUMAN	WD repeat domain 5	35					histone H3 acetylation|histone H3-K4 methylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ada2/Gcn5/Ada3 transcription activator complex|MLL1 complex|Set1C/COMPASS complex	protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)	9		Myeloproliferative disorder(178;0.0255)|Medulloblastoma(224;0.123)		Epithelial(140;6.61e-13)|all cancers(34;5.66e-12)|OV - Ovarian serous cystadenocarcinoma(145;3.93e-08)|GBM - Glioblastoma multiforme(294;0.00326)|READ - Rectum adenocarcinoma(205;0.154)		AAGCCAAACTATGCTCTAAAG	0.507													G	137005847	A	G	137005847	3	3	475	1	0	0	0	0	1	0	0	0	17405	449	16	3	110	3	WDR5	9	137005847	Missense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08	19452966	137005847	4207584	19	44567											
ZNF33B	7582	broad.mit.edu	37	chr10	43089129	43089129	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagtgaggtcagatttctgGtaaaaagttttcccacatgc	11	14	9	7	0	2	2	1	1	1	1	3	2	3	2	1	2	1	2	1	2	4	5			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:43089129G>A	ENST00000359467.3	-	5	1383	c.1269C>T	c.(1267-1269)taC>taT	p.Y423Y	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	423						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						CAGATTTCTGGTAAAAAGTTT	0.418													A	43089129	G	A	43089129	2	1	475	1	0	0	0	0	0	0	0	1	17956	1256	44	2		2	ZNF33B	10	43089129	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		43089129	92445618	20	44568											
ATAD1	84896	broad.mit.edu	37	chr10	89536119	89536119	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatccatcccagagactcaTaaactgagctttcatcatgg	13	10	6	12	0	3	2	3	1	0	1	5	3	5	2	2	1	2	1	2	1	3	2			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr10:89536119T>G	ENST00000308448.7	-	6	1027	c.649A>C	c.(649-651)Atg>Ctg	p.M217L	ATAD1_ENST00000328142.3_Missense_Mutation_p.M217L|ATAD1_ENST00000541004.1_Missense_Mutation_p.M217L|ATAD1_ENST00000400215.3_Missense_Mutation_p.M159L	NM_032810.2	NP_116199.2	Q8NBU5	ATAD1_HUMAN	ATPase family, AAA domain containing 1	217						peroxisome	ATP binding|nucleoside-triphosphatase activity			kidney(1)|large_intestine(4)|lung(4)|ovary(1)	10		all_cancers(4;6.78e-12)|Prostate(4;3.56e-12)|all_epithelial(4;5.58e-09)|Melanoma(5;0.0273)|Breast(4;0.0424)|all_hematologic(4;0.0846)|Colorectal(252;0.207)|Glioma(4;0.217)|all_neural(4;0.224)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00131)|GBM - Glioblastoma multiforme(1;1.1e-32)|Lung(2;1.4e-05)|LUSC - Lung squamous cell carcinoma(2;2.69e-05)|Colorectal(12;7.09e-05)|COAD - Colon adenocarcinoma(12;0.000261)|STAD - Stomach adenocarcinoma(243;0.235)		CAGAGACTCATAAACTGAGCT	0.378													G	89536119	T	G	89536119	3	3	475	1	0	0	0	0	1	0	0	0	1075	1406	49	5	456	5	ATAD1	10	89536119	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	46446990	89536119	45998628	21	44569											
NPAT	4863	broad.mit.edu	37	chr11	108043929	108043929	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacaagaattatcttggcaAtttgatagctgtgacataac	15	12	8	6	0	1	4	0	2	1	2	1	4	1	4	0	1	2	2	0	1	6	5			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:108043929A>G	ENST00000278612.8	-	13	1887	c.1782T>C	c.(1780-1782)aaT>aaC	p.N594N	NPAT_ENST00000610253.1_5'UTR	NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	594					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		TATCTTGGCAATTTGATAGCT	0.313													G	108043929	A	G	108043929	2	3	475	1	0	0	0	0	0	0	0	1	10642	98	4	3		3	NPAT	11	108043929	Silent	SNP	A	TCGA-FG-6690-01A-11D-1893-08		108043929	26962587	22	44570											
NCAM1	4684	broad.mit.edu	37	chr11	113076288	113076288	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccaaccccacaggagttccgGgagggggaagatgccgtgat	10	5	15	11	2	0	2	0	1	0	1	1	5	1	5	5	4	2	1	5	4	2	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr11:113076288G>A	ENST00000316851.7	+	3	360	c.360G>A	c.(358-360)cgG>cgA	p.R120R	NCAM1_ENST00000533760.1_Silent_p.R12R|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Silent_p.R129R	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	130	Ig-like C2-type 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGAGTTCCGGGAGGGGGAAG	0.507													A	113076288	G	A	113076288	2	1	475	1	0	0	0	0	0	0	0	1	10278	1219	43	2		2	NCAM1	11	113076288	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	5032359	113076288	21930228	23	44571											
SCN8A	6334	broad.mit.edu	37	chr12	52200839	52200839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccttcaccaagcgggtcctgGgagatagcggggagttggac	8	7	16	10	2	1	1	1	0	0	1	2	4	2	3	3	5	2	1	3	5	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:52200839G>A	ENST00000354534.6	+	27	5747	c.5569G>A	c.(5569-5571)Gga>Aga	p.G1857R	SCN8A_ENST00000545061.1_Missense_Mutation_p.G1816R	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit						axon guidance|myelination|peripheral nervous system development	cytoplasmic membrane-bounded vesicle|node of Ranvier	ATP binding|voltage-gated sodium channel activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Lamotrigine(DB00555)	GCGGGTCCTGGGAGATAGCGG	0.547													A	52200839	G	A	52200839	3	1	475	1	0	0	0	0	1	0	0	0	14017	1233	43	2	5671	2	SCN8A	12	52200839	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		52200839	81651056	24	44572											
KRT76	51350	broad.mit.edu	37	chr12	53169301	53169301	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaaaacaaggctccaggCtgctgggccctgagcctgtg	9	8	12	12	0	1	1	1	1	0	0	2	1	2	1	3	3	3	3	3	3	3	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr12:53169301C>T	ENST00000332411.2	-	2	739	c.686G>A	c.(685-687)aGc>aAc	p.S229N		NM_015848.4	NP_056932.2	Q01546	K22O_HUMAN	keratin 76	229	Linker 1.|Rod.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AGGCTCCAGGCTGCTGGGCCC	0.557													T	53169301	C	T	53169301	3	4	475	1	0	0	0	0	1	0	0	0	8547	797	28	2	1262	2	KRT76	12	53169301	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	968462	53169301	80682594	25	44573											
CCNB1IP1	57820	broad.mit.edu	37	chr14	20779861	20779861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaaaatctccatctccatCgccccgatttcgaacaggtg	10	10	7	14	3	2	1	0	1	2	0	6	3	2	1	4	1	1	0	4	1	3	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:20779861C>T	ENST00000398169.3	-	7	1298	c.682G>A	c.(682-684)Gat>Aat	p.D228N	CCNB1IP1_ENST00000353689.4_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000437553.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398160.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000398163.2_Missense_Mutation_p.D228N|CCNB1IP1_ENST00000358932.4_Missense_Mutation_p.D228N			Q9NPC3	CIP1_HUMAN	cyclin B1 interacting protein 1, E3 ubiquitin protein ligase	228						chromosome|nucleus	ligase activity|metal ion binding|protein binding	p.D228N(1)	HMGA2/CCNB1IP1(2)	breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	9	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;8.86e-07)|all cancers(55;4.98e-06)	GBM - Glioblastoma multiforme(265;0.0164)		CCATCTCCATCGCCCCGATTT	0.398			T	HMGA2	leiomyoma								T	20779861	C	T	20779861	3	4	475	1	0	0	0	0	1	0	0	0	2942	884	31	1	155	1	CCNB1IP1	14	20779861	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		20779861	86569679	26	44574											
REM2	161253	broad.mit.edu	37	chr14	23354069	23354069	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggcctcatcctctggctCgtctgactccttgggctcag	4	12	10	15	1	5	1	3	1	2	0	8	1	7	1	3	3	0	2	3	3	0	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:23354069C>T	ENST00000267396.4	+	2	413	c.290C>T	c.(289-291)tCg>tTg	p.S97L	REM2_ENST00000536884.1_Missense_Mutation_p.S97L	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	97					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TCCTCTGGCTCGTCTGACTCC	0.612													T	23354069	C	T	23354069	3	4	475	1	0	0	0	0	1	0	0	0	13311	893	31	1	296	1	REM2	14	23354069	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	2574208	23354069	83995471	27	44575											
ARF6	382	broad.mit.edu	37	chr14	50360497	50360497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttcgggaacaaggaaatgCggatcctcatgttgggcctg	9	10	13	9	2	2	0	1	0	1	0	4	3	3	3	2	4	2	1	2	4	3	2	rs61754359		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:50360497C>T	ENST00000298316.5	+	2	590	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	15					cell adhesion|cellular component movement|cortical actin cytoskeleton organization|negative regulation of receptor-mediated endocytosis|positive regulation of actin filament polymerization|positive regulation of establishment of protein localization in plasma membrane|protein localization at cell surface|protein transport|regulation of dendritic spine development|regulation of filopodium assembly|regulation of Rac protein signal transduction|ruffle organization|small GTPase mediated signal transduction|vesicle-mediated transport	cell cortex|endosome membrane|filopodium membrane|Golgi apparatus|membrane fraction|ruffle	GTP binding|GTPase activity|thioesterase binding			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CAAGGAAATGCGGATCCTCAT	0.597													T	50360497	C	T	50360497	3	4	475	1	0	0	0	0	1	0	0	0	851	759	27	1	45	1	ARF6	14	50360497	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	27006428	50360497	56989043	28	44576											
NID2	22795	broad.mit.edu	37	chr14	52520997	52520997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaacggggaagtgctgccGatatggaaagcccacactcc	11	6	11	13	2	0	0	0	0	0	0	2	3	2	2	4	3	4	1	4	3	4	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:52520997G>A	ENST00000216286.5	-	4	809	c.810C>T	c.(808-810)atC>atT	p.I270I	NID2_ENST00000541773.1_Silent_p.I217I	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	270	NIDO.					basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					AAGTGCTGCCGATATGGAAAG	0.502													A	52520997	G	A	52520997	2	1	475	1	0	0	0	0	0	0	0	1	10491	1048	37	1		1	NID2	14	52520997	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	2160500	52520997	54828543	29	44577											
CDC42BPB	9578	broad.mit.edu	37	chr14	103430859	103430859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttccaaggtgaggttggcGtccttgaccttcctgagctc	5	13	11	12	1	0	3	0	3	0	0	4	3	3	3	4	3	1	2	4	3	1	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr14:103430859G>A	ENST00000361246.2	-	19	2994	c.2706C>T	c.(2704-2706)gaC>gaT	p.D902D		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	902					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TGAGGTTGGCGTCCTTGACCT	0.652													A	103430859	G	A	103430859	2	1	475	1	0	0	0	0	0	0	0	1	3103	1136	40	1		1	CDC42BPB	14	103430859	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08	50909862	103430859	3918681	30	44578											
NDN	4692	broad.mit.edu	37	chr15	23932264	23932264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctctgccagggtcgcggacGgaggaaccccctccgaaacc	8	4	13	16	4	1	0	0	0	1	0	3	4	2	3	5	4	3	1	5	4	2	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:23932264G>A	ENST00000331837.4	-	1	186	c.101C>T	c.(100-102)cCg>cTg	p.P34L		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	34					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GGTCGCGGACGGAGGAACCCC	0.692									Prader-Willi syndrome				A	23932264	G	A	23932264	3	1	475	1	0	0	0	0	1	0	0	0	10323	1116	39	1	868	1	NDN	15	23932264	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		23932264	78599128	31	44579											
FBN1	2200	broad.mit.edu	37	chr15	48773871	48773871	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtacagccagtttttccTtttttgccggagtagcccat	6	15	8	12	1	0	0	0	0	0	0	1	1	1	1	5	1	4	3	5	1	2	7			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:48773871T>C	ENST00000316623.5	-	32	4400	c.3945A>G	c.(3943-3945)aaA>aaG	p.K1315K		NM_000138.4	NP_000129	P35555	FBN1_HUMAN	fibrillin 1	1315	EGF-like 21; calcium-binding.				heart development|negative regulation of BMP signaling pathway by extracellular sequestering of BMP|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|skeletal system development	basement membrane|extracellular space|microfibril	calcium ion binding|extracellular matrix structural constituent|protein binding			NS(1)|breast(5)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|liver(1)|lung(49)|ovary(4)|pancreas(1)|prostate(9)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	139		all_lung(180;0.00279)		all cancers(107;4.24e-07)|GBM - Glioblastoma multiforme(94;1.41e-05)		CAGTTTTTCCTTTTTTGCCGG	0.363													C	48773871	T	C	48773871	2	2	475	1	0	0	0	0	0	0	0	1	5751	1606	56	3		3	FBN1	15	48773871	Silent	SNP	T	TCGA-FG-6690-01A-11D-1893-08	24841607	48773871	53757521	32	44580											
ITGA11	22801	broad.mit.edu	37	chr15	68643096	68643096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaagtttctggattgatccCcctgcggttgtagtagccca	9	12	10	10	1	1	1	0	1	1	0	2	2	2	2	3	2	2	4	3	2	4	5			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr15:68643096C>T	ENST00000423218.2	-	9	1014	c.919G>A	c.(919-921)Ggg>Agg	p.G307R	ITGA11_ENST00000315757.7_Missense_Mutation_p.G307R			Q9UKX5	ITA11_HUMAN	integrin, alpha 11	307	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development	integrin complex	collagen binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(6)|lung(22)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	52					Tirofiban(DB00775)	GGATTGATCCCCCTGCGGTTG	0.502													T	68643096	C	T	68643096	3	4	475	1	0	0	0	0	1	0	0	0	7932	623	22	2	2735	2	ITGA11	15	68643096	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08	19869225	68643096	33888296	33	44581											
ATXN2L	11273	broad.mit.edu	37	chr16	28846974	28846974	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctctctgccaccgggaccTtctgcccagtcccctcagag	5	8	8	20	1	3	1	1	0	2	1	5	2	4	2	7	1	2	0	7	1	0	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:28846974T>C	ENST00000336783.4	+	21	2957	c.2790T>C	c.(2788-2790)ccT>ccC	p.P930P	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000395547.2_Silent_p.P930P|ATXN2L_ENST00000564304.1_Silent_p.P936P|ATXN2L_ENST00000340394.8_Silent_p.P930P|ATXN2L_ENST00000325215.6_Silent_p.P930P|ATXN2L_ENST00000382686.4_Silent_p.P930P|ATXN2L_ENST00000570200.1_Silent_p.P930P	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	930						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						CACCGGGACCTTCTGCCCAGT	0.662													C	28846974	T	C	28846974	2	2	475	1	0	0	0	0	0	0	0	1	1217	1596	56	3		3	ATXN2L	16	28846974	Silent	SNP	T	TCGA-FG-6690-01A-11D-1893-08		28846974	61507779	34	44582											
ADCY7	113	broad.mit.edu	37	chr16	50339454	50339454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcggaggatgactcgtacGatgacgagatgctgtcagcc	9	8	15	9	4	1	3	1	2	0	1	3	7	1	5	1	3	3	2	1	3	1	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr16:50339454G>A	ENST00000394697.2	+	13	1976	c.1636G>A	c.(1636-1638)Gat>Aat	p.D546N	ADCY7_ENST00000566433.2_Missense_Mutation_p.D546N|ADCY7_ENST00000538642.1_Missense_Mutation_p.D546N|ADCY7_ENST00000254235.3_Missense_Mutation_p.D546N|ADCY7_ENST00000537579.1_Intron			P51828	ADCY7_HUMAN	adenylate cyclase 7	546					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	TGACTCGTACGATGACGAGAT	0.607													A	50339454	G	A	50339454	3	1	475	1	0	0	0	0	1	0	0	0	299	1058	37	1	1682	1	ADCY7	16	50339454	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	21492480	50339454	40015299	35	44583											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7577568C>T	ENST00000420246.2	-	7	845	c.713G>A	c.(712-714)tGt>tAt	p.C238Y	TP53_ENST00000269305.4_Missense_Mutation_p.C238Y|TP53_ENST00000359597.4_Missense_Mutation_p.C238Y|TP53_ENST00000445888.2_Missense_Mutation_p.C238Y|TP53_ENST00000455263.2_Missense_Mutation_p.C238Y|TP53_ENST00000413465.2_Missense_Mutation_p.C238Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572		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)			T	7577568	C	T	7577568	3	4	475	1	0	0	0	0	1	0	0	0	16482	478	17	2	577	2	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		7577568	73617642	36	44584											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	475	1	0	0	0	0	0	1	0	0	16482	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	695	7578263	73616947	37	44585											
MYH2	4620	broad.mit.edu	37	chr17	10451106	10451106	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtccctttgacaaaggattcTttgggctccgccacaaagac	10	10	9	12	1	1	2	0	1	1	1	3	3	3	3	3	2	0	1	3	2	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:10451106T>A	ENST00000245503.5	-	3	516	c.132A>T	c.(130-132)aaA>aaT	p.K44N	MYH2_ENST00000397183.2_Missense_Mutation_p.K44N|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Missense_Mutation_p.K44N	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	44	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAAAGGATTCTTTGGGCTCCG	0.537													A	10451106	T	A	10451106	3	1	475	1	0	0	0	0	1	0	0	0	10111	1606	56	5	5845	5	MYH2	17	10451106	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	2872843	10451106	70744104	38	44586											
BPTF	2186	broad.mit.edu	37	chr17	65899913	65899913	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaattcttaggttacaccGgatgacatcaattgaaagag	15	11	9	6	1	2	4	1	3	1	1	2	5	2	5	1	2	1	1	1	2	5	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr17:65899913G>A	ENST00000321892.4	+	10	2991	c.2930G>A	c.(2929-2931)cGg>cAg	p.R977Q	BPTF_ENST00000335221.5_Missense_Mutation_p.R977Q|BPTF_ENST00000424123.3_Missense_Mutation_p.R838Q|BPTF_ENST00000306378.6_Missense_Mutation_p.R851Q			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	977					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			AGGTTACACCGGATGACATCA	0.323													A	65899913	G	A	65899913	3	1	475	1	0	0	0	0	1	0	0	0	1504	1116	39	1	2968	1	BPTF	17	65899913	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	55448807	65899913	15295297	39	44587											
RIOK3	8780	broad.mit.edu	37	chr18	21057190	21057190	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaacctacccaccctcaCggcctggagttcttgttccg	7	10	9	15	2	2	1	1	0	1	1	3	2	3	2	5	2	2	3	5	2	3	5	rs56187215		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr18:21057190C>A	ENST00000339486.3	+	11	1919	c.1302C>A	c.(1300-1302)caC>caA	p.H434Q	RIOK3_ENST00000577501.1_Missense_Mutation_p.H434Q|RIOK3_ENST00000581585.1_Missense_Mutation_p.H418Q	NM_003831.3	NP_003822.2	O14730	RIOK3_HUMAN	RIO kinase 3	434	Protein kinase.				chromosome segregation		ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(3)|ovary(2)	10	all_cancers(21;0.000106)|all_epithelial(16;6.74e-07)|Lung NSC(20;0.00171)|all_lung(20;0.0055)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CCCACCCTCACGGCCTGGAGT	0.413													A	21057190	C	A	21057190	3	1	475	1	0	0	0	0	1	0	0	0	13470	535	19	4	1344	4	RIOK3	18	21057190	Missense_Mutation	SNP	C	TCGA-FG-6690-01A-11D-1893-08		21057190	57020058	40	44588											
C19orf26	255057	broad.mit.edu	37	chr19	1235018	1235018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggcgacccttgtcctgcGtcttgcggctctgctcaaac	5	10	10	16	4	3	0	1	0	2	0	4	1	4	0	3	2	4	2	3	2	1	2			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:1235018G>A	ENST00000590083.1	-	5	729	c.437C>T	c.(436-438)aCg>aTg	p.T146M	C19orf26_ENST00000382477.2_Missense_Mutation_p.T140M|C19orf26_ENST00000215376.6_Missense_Mutation_p.T140M			Q8N350	DOS_HUMAN	chromosome 19 open reading frame 26	140						integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	9		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		CTTGTCCTGCGTCTTGCGGCT	0.701										HNSCC(14;0.022)			A	1235018	G	A	1235018	3	1	475	1	0	0	0	0	1	0	0	0	1935	1145	40	1	944	1	C19orf26	19	1235018	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08		1235018	57893965	41	44589											
MUC16	94025	broad.mit.edu	37	chr19	9086351	9086351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcacctccattgatggagTtggagatggaagatccatag	11	11	12	7	0	1	3	1	1	0	2	3	6	3	5	3	3	0	1	3	3	2	3			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:9086351T>A	ENST00000397910.4	-	1	5667	c.5464A>T	c.(5464-5466)Act>Tct	p.T1822S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1822	Ser-rich.|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						ATTGATGGAGTTGGAGATGGA	0.483													A	9086351	T	A	9086351	3	1	475	1	0	0	0	0	1	0	0	0	10049	1725	60	5	38395	5	MUC16	19	9086351	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	7851333	9086351	50042632	42	44590											
SMARCA4	6597	broad.mit.edu	37	chr19	11098500	11098500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcagccggcccagcccGcgcccatggtgccactgcac	5	3	13	20	4	0	0	0	0	0	0	0	0	0	0	6	3	4	2	6	3	0	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:11098500G>A	ENST00000358026.2	+	6	1302	c.1018G>A	c.(1018-1020)Gcg>Acg	p.A340T	SMARCA4_ENST00000589677.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A340T|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A340T|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A340T|SMARCA4_ENST00000429416.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A340T|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A340T	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	340					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGCCCAGCCCGCGCCCATGGT	0.746			"F, N, Mis"		NSCLC								A	11098500	G	A	11098500	3	1	475	1	0	0	0	0	1	0	0	0	14864	1087	38	1	1036	1	SMARCA4	19	11098500	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	2012149	11098500	48030483	43	44591											
ATP4A	495	broad.mit.edu	37	chr19	36054521	36054521	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acccctgggccccactcacgGccttccccatggtgcccggt	4	7	10	20	2	1	0	1	0	0	0	2	0	2	0	8	4	1	0	8	4	0	1			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr19:36054521G>A	ENST00000262623.3	-	1	39	c.11C>T	c.(10-12)gCc>gTc	p.A4V		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	4					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CCCACTCACGGCCTTCCCCAT	0.652													A	36054521	G	A	36054521	5	1	475	1	0	0	0	0	0	0	1	0	1150	1217	42	2	3184	2	ATP4A	19	36054521	Splice_Site	SNP	G	TCGA-FG-6690-01A-11D-1893-08	24956021	36054521	23074462	44	44592											
CBLN4	140689	broad.mit.edu	37	chr20	54573805	54573805	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttttccatttaacatcaaGttaacctagaagaagaaaaa	18	11	6	6	0	1	3	1	0	0	3	2	3	2	3	2	1	2	2	2	1	8	6			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:54573805G>A	ENST00000064571.2	-	3	1714	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	138	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			TTAACATCAAGTTAACCTAGA	0.363													A	54573805	G	A	54573805	2	1	475	1	0	0	0	0	0	0	0	1	2733	1020	36	2		2	CBLN4	20	54573805	Silent	SNP	G	TCGA-FG-6690-01A-11D-1893-08		54573805	8451715	45	44593											
ZNF831	128611	broad.mit.edu	37	chr20	57769660	57769660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcagtgtccctctgcccGcggagcagaaggcaaaggcg	8	4	15	14	4	1	1	0	0	1	1	2	2	2	2	3	3	2	3	3	3	2	0			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chr20:57769660G>A	ENST00000371030.2	+	1	3586	c.3586G>A	c.(3586-3588)Gcg>Acg	p.A1196T		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1196						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CCCTCTGCCCGCGGAGCAGAA	0.637													A	57769660	G	A	57769660	3	1	475	1	0	0	0	0	1	0	0	0	18284	1087	38	1	3588	1	ZNF831	20	57769660	Missense_Mutation	SNP	G	TCGA-FG-6690-01A-11D-1893-08	3195855	57769660	5255860	46	44594											
ATRX	546	broad.mit.edu	37	chrX	76939522	76939522	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaatttaagtcttcttccAatgcaagatgagccttctta	11	14	7	9	1	3	2	0	1	3	1	4	3	4	3	2	1	2	1	2	1	5	6	rs122445109		TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:76939522A>T	ENST00000373344.5	-	9	1440	c.1226T>A	c.(1225-1227)tTg>tAg	p.L409*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.L371*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	409			L -> S (in MRXSHF1).		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)	GTCTTCTTCCAATGCAAGATG	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939522	A	T	76939522	4	4	475	1	0	0	0	0	0	1	0	0	1213	131	5	5	6360	5	ATRX	23	76939522	Nonsense_Mutation	SNP	A	TCGA-FG-6690-01A-11D-1893-08		76939522	78331038	47	44595											
TCEAL6	158931	broad.mit.edu	37	chrX	101395952	101395952	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttgggggaatcgtccgTccccctgtctgtttttcttt	2	17	10	12	2	2	0	0	0	2	0	6	1	5	1	4	2	0	1	4	2	1	4			TCGA-FG-6690-01A-11D-1893-08	TCGA-FG-6690-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68080470-9502-41cb-b0e1-786f2c3fe62a	b8e3eb49-7c11-4317-93ef-7dae88807e25	g.chrX:101395952T>C	ENST00000372774.3	-	3	601	c.352A>G	c.(352-354)Acg>Gcg	p.T118A	TCEAL6_ENST00000372773.1_Missense_Mutation_p.T118A	NM_001006938.2	NP_001006939.2	Q6IPX3	TCAL6_HUMAN	transcription elongation factor A (SII)-like 6	118					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	14						GAATCGTCCGTCCCCCTGTCT	0.577													C	101395952	T	C	101395952	3	2	475	1	0	0	0	0	1	0	0	0	15775	1667	58	3	203	3	TCEAL6	23	101395952	Missense_Mutation	SNP	T	TCGA-FG-6690-01A-11D-1893-08	24456430	101395952	53874608	48	44596											
DLGAP3	58512	broad.mit.edu	37	chr1	35334404	35334404	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggccccagggccgggggTgggggcgggggcagggccgg	2	1	26	12	4	0	0	0	0	0	0	0	0	0	0	5	10	0	1	5	10	0	0			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:35334404T>G	ENST00000373347.1	-	9	2555	c.2287A>C	c.(2287-2289)Acc>Ccc	p.T763P	DLGAP3_ENST00000235180.4_Missense_Mutation_p.T763P			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	763					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				gggccgggggtgggggcgggg	0.766													G	35334404	T	G	35334404	3	3	476	1	0	0	0	0	1	0	0	0	4600	1696	59	5	668	5	DLGAP3	1	35334404	Missense_Mutation	SNP	T	TCGA-FG-6691-01A-11D-1893-08		35334404	213916217	1	44597											
HIVEP3	59269	broad.mit.edu	37	chr1	42049093	42049093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtgctcgatcacctgcGtccggggtacagacaaaggc	9	8	13	11	3	1	2	1	1	0	1	3	3	2	2	2	3	3	2	2	3	2	1			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr1:42049093G>A	ENST00000372584.1	-	3	2390	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	HIVEP3_ENST00000372583.1_Missense_Mutation_p.T459M|HIVEP3_ENST00000247584.5_Missense_Mutation_p.T459M|HIVEP3_ENST00000429157.2_Missense_Mutation_p.T459M	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	459	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				GATCACCTGCGTCCGGGGTAC	0.637													A	42049093	G	A	42049093	3	1	476	1	0	0	0	0	1	0	0	0	7243	1145	40	1	5868	1	HIVEP3	1	42049093	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	6714689	42049093	207201528	2	44598											
VIT	5212	broad.mit.edu	37	chr2	37032683	37032683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtggatggctggcccaCggacaaagtggaggaggctt	9	7	18	7	1	0	0	0	0	0	0	0	5	0	4	1	8	0	2	1	8	1	1			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:37032683C>T	ENST00000379242.3	+	14	1567	c.1265C>T	c.(1264-1266)aCg>aTg	p.T422M	VIT_ENST00000401530.1_Missense_Mutation_p.T386M|VIT_ENST00000404084.1_Missense_Mutation_p.T359M|VIT_ENST00000497382.1_Missense_Mutation_p.T76M|VIT_ENST00000379241.3_Missense_Mutation_p.T385M|VIT_ENST00000389975.3_Missense_Mutation_p.T407M	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	407	VWFA 1.					proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				GGCTGGCCCACGGACAAAGTG	0.502													T	37032683	C	T	37032683	3	4	476	1	0	0	0	0	1	0	0	0	17273	536	19	1	1440	1	VIT	2	37032683	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08		37032683	206166690	3	44599											
DYNC2LI1	51626	broad.mit.edu	37	chr2	44021694	44021694	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaaaagccatgtagacaAagtgataatgaaactgggaa	20	6	9	6	0	0	3	0	2	0	1	0	4	0	4	1	1	2	1	1	1	7	2			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:44021694A>G	ENST00000260605.8	+	6	519	c.419A>G	c.(418-420)aAa>aGa	p.K140R	DYNC2LI1_ENST00000398823.2_3'UTR|DYNC2LI1_ENST00000605786.1_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000406852.3_Missense_Mutation_p.K140R|DYNC2LI1_ENST00000443170.3_Missense_Mutation_p.K14R|DYNC2LI1_ENST00000489222.2_3'UTR	NM_001193464.1|NM_016008.3	NP_001180393.1|NP_057092.2	Q8TCX1	DC2L1_HUMAN	dynein, cytoplasmic 2, light intermediate chain 1	140						apical part of cell|axonemal dynein complex|cilium axoneme|cytoplasm|microtubule|motile primary cilium	motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|skin(1)	26		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				CATGTAGACAAAGTGATAATG	0.408													G	44021694	A	G	44021694	3	3	476	1	0	0	0	0	1	0	0	0	4886	14	1	3	441	3	DYNC2LI1	2	44021694	Missense_Mutation	SNP	A	TCGA-FG-6691-01A-11D-1893-08	6989011	44021694	199177679	4	44600											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	476	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	165091419	209113113	34086260	5	44601											
MAP3K13	9175	broad.mit.edu	37	chr3	185161243	185161243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttggaaggggtgtttgtActcaggccccatgttattgt	6	16	12	7	0	2	0	1	0	1	0	2	1	2	1	2	4	1	3	2	4	3	6			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr3:185161243A>G	ENST00000265026.3	+	4	1004	c.670A>G	c.(670-672)Act>Gct	p.T224A	MAP3K13_ENST00000535426.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000443863.1_Missense_Mutation_p.T80A|MAP3K13_ENST00000446828.1_Missense_Mutation_p.T17A|MAP3K13_ENST00000424227.1_Missense_Mutation_p.T224A	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	224	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			GGGTGTTTGTACTCAGGCCCC	0.363													G	185161243	A	G	185161243	3	3	476	1	0	0	0	0	1	0	0	0	9322	391	14	3	680	3	MAP3K13	3	185161243	Missense_Mutation	SNP	A	TCGA-FG-6691-01A-11D-1893-08		185161243	12861187	6	44602											
MUC7	4589	broad.mit.edu	37	chr4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaaaataaaatttctcGatttcttttatatatgaaga	15	16	5	5	1	2	2	0	1	2	1	3	3	2	2	1	1	0	0	1	1	8	7	rs145866670		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr4:71347534G>A	ENST00000413702.1	+	4	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000304887.5_Missense_Mutation_p.R358Q|MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	358						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358													A	71347534	G	A	71347534	3	1	476	1	0	0	0	0	1	0	0	0	10057	1058	37	1	1079	1	MUC7	4	71347534	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08		71347534	119806742	7	44603											
WBSCR17	64409	broad.mit.edu	37	chr7	70853295	70853295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcgtgaacgaggccctgtCggtgatcctgcggtccgtgc	4	10	14	13	5	0	2	0	2	0	0	4	3	2	2	3	3	3	0	3	3	1	1			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr7:70853295C>T	ENST00000333538.5	+	3	1131	c.497C>T	c.(496-498)tCg>tTg	p.S166L	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	166	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				GAGGCCCTGTCGGTGATCCTG	0.542													T	70853295	C	T	70853295	3	4	476	1	0	0	0	0	1	0	0	0	17366	893	31	1	507	1	WBSCR17	7	70853295	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08		70853295	88285368	8	44604											
LONRF1	91694	broad.mit.edu	37	chr8	12595574	12595574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaaatcaaaaggtctgtttTtagtacatggtaatgaactc	15	13	8	5	0	2	1	1	1	1	0	3	2	2	1	0	2	2	3	0	2	8	5			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr8:12595574T>C	ENST00000398246.3	-	4	1112	c.1043A>G	c.(1042-1044)aAa>aGa	p.K348R	LONRF1_ENST00000533751.1_5'UTR|LONRF1_ENST00000530693.1_5'UTR	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	348					proteolysis		ATP-dependent peptidase activity|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		AGGTCTGTTTTTAGTACATGG	0.363													C	12595574	T	C	12595574	3	2	476	1	0	0	0	0	1	0	0	0	8964	1841	64	3	1314	3	LONRF1	8	12595574	Missense_Mutation	SNP	T	TCGA-FG-6691-01A-11D-1893-08		12595574	133768448	9	44605											
MMP16	4325	broad.mit.edu	37	chr8	89339322	89339322	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctccacattgaaatactgCtccgttccgcagactgtagc	10	10	7	14	2	0	2	0	1	0	1	3	2	3	2	4	0	3	4	4	0	3	4			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr8:89339322C>G	ENST00000286614.6	-	1	395	c.114G>C	c.(112-114)gaG>gaC	p.E38D	MMP16_ENST00000544227.1_5'UTR|RP11-586K2.1_ENST00000523254.1_RNA	NM_005941.4	NP_005932.2	P51512	MMP16_HUMAN	matrix metallopeptidase 16 (membrane-inserted)	38					collagen catabolic process|proteolysis	cell surface|integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(51)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	81						TGAAATACTGCTCCGTTCCGC	0.507													G	89339322	C	G	89339322	3	3	476	1	0	0	0	0	1	0	0	0	9730	796	28	4	1905	4	MMP16	8	89339322	Missense_Mutation	SNP	C	TCGA-FG-6691-01A-11D-1893-08	76743748	89339322	57024700	10	44606											
SEMA7A	8482	broad.mit.edu	37	chr15	74709961	74709961	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaccagggagttctcgtccGggctgaagggggcgtagcct	7	7	17	10	3	1	1	0	1	1	0	3	3	2	2	3	4	2	3	3	4	3	2	rs140327601		TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr15:74709961G>A	ENST00000261918.4	-	5	1069	c.521C>T	c.(520-522)cCg>cTg	p.P174L	SEMA7A_ENST00000543145.2_Missense_Mutation_p.P160L|SEMA7A_ENST00000542748.1_Missense_Mutation_p.P9L	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	174	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						GTTCTCGTCCGGGCTGAAGGG	0.612													A	74709961	G	A	74709961	3	1	476	1	0	0	0	0	1	0	0	0	14136	1116	39	1	1519	1	SEMA7A	15	74709961	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08		74709961	27821431	11	44607											
TP53	7157	broad.mit.edu	37	chr17	7578444	7578449	+	In_Frame_Del	DEL	GATGGC	GATGGC	-																															atgtgctgtgactgcttgtaGatggccatggcgcggacgcg																										TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr17:7578444_7578449delGATGGC	ENST00000420246.2	-	5	613_618	c.481_486delGCCATC	c.(481-486)gccatcdel	p.AI161del	TP53_ENST00000445888.2_In_Frame_Del_p.AI161del|TP53_ENST00000359597.4_In_Frame_Del_p.AI161del|TP53_ENST00000413465.2_In_Frame_Del_p.AI161del|TP53_ENST00000455263.2_In_Frame_Del_p.AI161del|TP53_ENST00000269305.4_In_Frame_Del_p.AI161del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (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.A161T(54)|p.A161D(11)|p.I162F(10)|p.A161V(8)|p.0?(8)|p.I162S(7)|p.I162N(6)|p.I162V(5)|p.A161A(5)|p.I162I(4)|p.I162_Y163>N(3)|p.I162M(3)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.I162fs*10(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.I162fs*19(2)|p.V157_C176del20(1)|p.A68D(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.A161S(1)|p.I30_Y31>N(1)|p.A161fs*19(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.I69_Y70>N(1)|p.A29D(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.I162_Y163delIY(1)|p.I69S(1)|p.A161fs*20(1)|p.I30fs*10(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.I69N(1)|p.A161G(1)|p.S149fs*72(1)|p.I162fs*8(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.I30N(1)|p.I69fs*10(1)|p.R156fs*20(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.R158fs*8(1)|p.I30S(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)		ACTGCTTGTAGATGGCCATGGCGCGG	0.631		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)			-	7578449	GATGGC	-	7578444	7	5	476	1	0	1	0	1	0	0	0	0	16482	932	33	0	812	0	TP53	17	7578444	In_Frame_Del	DEL	GATGGC	TCGA-FG-6691-01A-11D-1893-08		7578444	73616766	12	44608											
TSPAN16	26526	broad.mit.edu	37	chr19	11417342	11417342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccttcgaaatgacaacGggccacacctaccccaggag	11	7	8	15	2	1	1	0	1	1	0	3	3	2	2	5	2	2	0	5	2	3	3			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:11417342G>A	ENST00000316737.1	+	5	663	c.513G>A	c.(511-513)acG>acA	p.T171T	TSPAN16_ENST00000590327.1_Silent_p.T171T|TSPAN16_ENST00000592955.1_Silent_p.T146T|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16	171						integral to membrane				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						AAATGACAACGGGCCACACCT	0.488													A	11417342	G	A	11417342	2	1	476	1	0	0	0	0	0	0	0	1	16741	1103	39	1		1	TSPAN16	19	11417342	Silent	SNP	G	TCGA-FG-6691-01A-11D-1893-08		11417342	47711641	13	44609											
OR10H3	26532	broad.mit.edu	37	chr19	15852474	15852474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatctgctcttcacccatcGttccatcacctttgtggctt	5	16	6	14	1	4	1	2	1	2	0	6	1	5	1	3	1	1	3	3	1	0	4			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chr19:15852474G>A	ENST00000305892.1	+	1	272	c.272G>A	c.(271-273)cGt>cAt	p.R91H		NM_013938.1	NP_039226.1	O60404	O10H3_HUMAN	olfactory receptor, family 10, subfamily H, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(2)|endometrium(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17						TTCACCCATCGTTCCATCACC	0.498													A	15852474	G	A	15852474	3	1	476	1	0	0	0	0	1	0	0	0	10983	1145	40	1	274	1	OR10H3	19	15852474	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	4435132	15852474	43276509	14	44610											
ATRX	546	broad.mit.edu	37	chrX	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T																															ttggctgtggtctcaatcagINStttttttgccttcttaatca																										TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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)	GTCTCAATCAGTTTTTTTGCCT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939674	-	T	76939673	7	5	476	1	0	1	1	0	0	0	0	0	1213	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-FG-6691-01A-11D-1893-08		76939673	78330887	15	44611											
GPRASP1	9737	broad.mit.edu	37	chrX	101909851	101909851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggccaggcacagggccaagcGagaagcttgcattgatttca	11	7	13	10	1	1	2	1	1	0	1	1	3	1	2	2	3	3	3	2	3	2	3			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:101909851G>C	ENST00000537097.1	+	6	1823	c.1010G>C	c.(1009-1011)cGa>cCa	p.R337P	GPRASP1_ENST00000415986.1_Missense_Mutation_p.R337P|GPRASP1_ENST00000361600.5_Missense_Mutation_p.R337P|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.R337P	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	337						cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						AGGGCCAAGCGAGAAGCTTGC	0.478													C	101909851	G	C	101909851	3	2	476	1	0	0	0	0	1	0	0	0	6777	1058	37	4	1012	4	GPRASP1	23	101909851	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	24970178	101909851	53360709	16	44612											
GPRASP1	9737	broad.mit.edu	37	chrX	101910618	101910618	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ctgaaaaccagacctatatgGattgtagggctgaaactagc	14	9	10	8	0	0	3	0	2	0	1	0	4	0	4	2	2	3	2	2	2	7	5			TCGA-FG-6691-01A-11D-1893-08	TCGA-FG-6691-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d309c4d-9bb3-48ee-a662-c9aec672fcbd	4587f277-e82b-4c27-94ad-ae5de4bc706f	g.chrX:101910618G>C	ENST00000537097.1	+	6	2590	c.1777G>C	c.(1777-1779)Gat>Cat	p.D593H	GPRASP1_ENST00000415986.1_Missense_Mutation_p.D593H|GPRASP1_ENST00000361600.5_Missense_Mutation_p.D593H|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.D593H	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	593	Glu-rich.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GACCTATATGGATTGTAGGGC	0.507													C	101910618	G	C	101910618	3	2	476	1	0	0	0	0	1	0	0	0	6777	1174	41	4	1779	4	GPRASP1	23	101910618	Missense_Mutation	SNP	G	TCGA-FG-6691-01A-11D-1893-08	767	101910618	53359942	17	44613											
ELTD1	64123	broad.mit.edu	37	chr1	79392754	79392754	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaccaatactcttataataTacaaatgcaactgcaacatt	17	11	4	9	0	1	0	0	0	1	0	1	1	1	1	1	1	6	2	1	1	9	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:79392754T>A	ENST00000370742.3	-	8	963	c.900A>T	c.(898-900)gtA>gtT	p.V300V		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	300			V -> L (in dbSNP:rs12754818).		neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TCTTATAATATACAAATGCAA	0.274													A	79392754	T	A	79392754	2	1	477	1	0	0	0	0	0	0	0	1	5125	1393	49	5		5	ELTD1	1	79392754	Silent	SNP	T	TCGA-FG-6692-01A-11D-1893-08		79392754	169857867	1	44614											
ABCA4	24	broad.mit.edu	37	chr1	94486937	94486937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgagaaagctgaccaggGcatgccagcctttgttatta	11	11	10	9	0	0	2	0	2	0	1	0	3	0	2	3	1	3	3	3	1	3	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:94486937G>A	ENST00000370225.3	-	35	4963	c.4877C>T	c.(4876-4878)gCc>gTc	p.A1626V		NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1626					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GCTGACCAGGGCATGCCAGCC	0.517													A	94486937	G	A	94486937	3	1	477	1	0	0	0	0	1	0	0	0	34	1203	42	2	2008	2	ABCA4	1	94486937	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	15094183	94486937	154763684	2	44615											
VCAM1	7412	broad.mit.edu	37	chr1	101198155	101198155	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcaccttaatttctacAaaaatggaagattctggggt	13	13	7	8	0	3	1	1	0	3	1	4	2	3	2	1	3	1	0	1	3	5	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:101198155A>G	ENST00000294728.2	+	7	1808	c.1707A>G	c.(1705-1707)acA>acG	p.T569T	VCAM1_ENST00000370119.4_Silent_p.T507T|VCAM1_ENST00000370115.1_Silent_p.T370T|VCAM1_ENST00000347652.2_Silent_p.T477T	NM_001078.3	NP_001069.1	P19320	VCAM1_HUMAN	vascular cell adhesion molecule 1	569	Ig-like C2-type 6.				heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|leukocyte tethering or rolling|membrane to membrane docking|positive regulation of T cell proliferation|regulation of immune response	alpha9-beta1 integrin-vascular cell adhesion molecule-1 complex|apical part of cell|external side of plasma membrane|extracellular space|filopodium|integral to membrane|microvillus|podosome	cell adhesion molecule binding|integrin binding			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(27)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_epithelial(167;3.83e-06)|all_lung(203;0.000485)|Lung NSC(277;0.0011)		Epithelial(280;0.0227)|all cancers(265;0.0276)|COAD - Colon adenocarcinoma(174;0.149)|Colorectal(144;0.169)|Lung(183;0.196)	Carvedilol(DB01136)	TAATTTCTACAAAAATGGAAG	0.458													G	101198155	A	G	101198155	2	3	477	1	0	0	0	0	0	0	0	1	17239	117	5	3		3	VCAM1	1	101198155	Silent	SNP	A	TCGA-FG-6692-01A-11D-1893-08	6711218	101198155	148052466	3	44616											
FLG2	388698	broad.mit.edu	37	chr1	152328212	152328212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgacctgatctagactcatGttgtccaaaaccagaggatt	13	11	8	9	0	2	4	1	2	1	2	3	5	3	5	3	1	1	1	3	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:152328212G>A	ENST00000388718.5	-	3	2122	c.2050C>T	c.(2050-2052)Cat>Tat	p.H684Y	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	684	Ser-rich.						calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTAGACTCATGTTGTCCAAAA	0.473													A	152328212	G	A	152328212	3	1	477	1	0	0	0	0	1	0	0	0	5972	1377	48	2	5129	2	FLG2	1	152328212	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	51130057	152328212	96922409	4	44617											
RNASEL	6041	broad.mit.edu	37	chr1	182544690	182544690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgaaaatacagggaaGggtctccaatttttaatttc	12	15	7	7	0	3	1	0	1	3	0	5	2	3	2	1	2	1	0	1	2	6	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:182544690G>A	ENST00000367559.3	-	7	2316	c.2063C>T	c.(2062-2064)cCt>cTt	p.P688L	RNASEL_ENST00000444138.1_Missense_Mutation_p.P688L	NM_021133.3	NP_066956.1	Q05823	RN5A_HUMAN	ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)	688	KEN.				mRNA processing|response to virus|type I interferon-mediated signaling pathway	mitochondrion	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|metal ion binding|protein kinase activity|RNA binding			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(1)	27						ATACAGGGAAGGGTCTCCAAT	0.398													A	182544690	G	A	182544690	3	1	477	1	0	0	0	0	1	0	0	0	13507	1000	35	2	166	2	RNASEL	1	182544690	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	30216478	182544690	66705931	5	44618											
GREM2	64388	broad.mit.edu	37	chr1	240656344	240656344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttctggattttcttgagtcgGaagggtgggtccaggccggg	5	12	17	7	2	2	1	0	1	2	0	4	3	3	3	2	6	0	0	2	6	1	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr1:240656344G>A	ENST00000318160.4	-	2	698	c.432C>T	c.(430-432)ttC>ttT	p.F144F		NM_022469.3	NP_071914.3	Q9H772	GREM2_HUMAN	gremlin 2, DAN family BMP antagonist	144	CTCK.				BMP signaling pathway	extracellular space	cytokine activity			endometrium(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	10		all_cancers(173;0.0196)	OV - Ovarian serous cystadenocarcinoma(106;0.0123)			TCTTGAGTCGGAAGGGTGGGT	0.647													A	240656344	G	A	240656344	2	1	477	1	0	0	0	0	0	0	0	1	6817	1165	41	2		2	GREM2	1	240656344	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	58111654	240656344	8594277	6	44619											
SDC1	6382	broad.mit.edu	37	chr2	20403920	20403920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttgggcccctctccagccGgcagggtggaggtggaggca	5	6	17	13	1	1	0	0	0	1	0	2	2	1	2	5	7	1	2	5	7	0	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:20403920G>A	ENST00000381150.1	-	4	671	c.281C>T	c.(280-282)cCg>cTg	p.P94L	SDC1_ENST00000482879.1_5'UTR|SDC1_ENST00000403076.1_Missense_Mutation_p.P94L|SDC1_ENST00000254351.4_Missense_Mutation_p.P94L	NM_001006946.1	NP_001006947	P18827	SDC1_HUMAN	syndecan 1	94					lipid metabolic process|lipoprotein metabolic process|myoblast development|striated muscle cell development	cytoplasm|extracellular region|focal adhesion|integral to plasma membrane	cytoskeletal protein binding|protein C-terminus binding			NS(1)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|skin(2)	21	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)			OV - Ovarian serous cystadenocarcinoma(76;0.221)		CTCTCCAGCCGGCAGGGTGGA	0.687													A	20403920	G	A	20403920	3	1	477	1	0	0	0	0	1	0	0	0	14044	1116	39	1	663	1	SDC1	2	20403920	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		20403920	222795453	7	44620											
LRRTM4	80059	broad.mit.edu	37	chr2	77746149	77746149	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcttgttggaatccaaattCaatttttgtaaattggggag	12	15	10	4	0	1	0	1	0	0	0	2	2	2	2	1	3	1	3	1	3	5	7			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:77746149C>T	ENST00000409088.3	-	3	1260	c.846G>A	c.(844-846)ttG>ttA	p.L282L	LRRTM4_ENST00000409093.1_Silent_p.L282L|LRRTM4_ENST00000409282.1_Silent_p.L283L|LRRTM4_ENST00000409884.1_Silent_p.L282L|LRRTM4_ENST00000409911.1_Silent_p.L283L	NM_001282928.1|NM_024993.4	NP_001269857.1|NP_079269.4	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	282						integral to membrane		p.L282F(2)		autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		AATCCAAATTCAATTTTTGTA	0.398													T	77746149	C	T	77746149	2	4	477	1	0	0	0	0	0	0	0	1	9112	825	29	2		2	LRRTM4	2	77746149	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	57342229	77746149	165453224	8	44621											
SAP130	79595	broad.mit.edu	37	chr2	128747195	128747195	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cataggtgcaggctgaagccCttgtgtgttgattggggttg	6	13	16	6	0	0	2	0	2	0	0	0	2	0	2	1	4	2	4	1	4	2	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:128747195C>A	ENST00000357702.5	-	13	1932	c.1801G>T	c.(1801-1803)Ggg>Tgg	p.G601W	SAP130_ENST00000259235.3_Missense_Mutation_p.G601W|SAP130_ENST00000259234.6_Missense_Mutation_p.G575W	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	601					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		GGCTGAAGCCCTTGTGTGTTG	0.512													A	128747195	C	A	128747195	3	1	477	1	0	0	0	0	1	0	0	0	13922	681	24	4	1486	4	SAP130	2	128747195	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	51001046	128747195	114452178	9	44622											
LRP2	4036	broad.mit.edu	37	chr2	170034411	170034411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atccatcatatttgtttcccTtttccactgtccttgtattc	6	20	3	12	0	1	0	1	0	0	0	6	0	5	0	4	0	0	2	4	0	2	8			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:170034411T>C	ENST00000263816.3	-	53	10580	c.10295A>G	c.(10294-10296)aAg>aGg	p.K3432R	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3432					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTTGTTTCCCTTTTCCACTGT	0.433													C	170034411	T	C	170034411	3	2	477	1	0	0	0	0	1	0	0	0	9026	1609	56	3	3780	3	LRP2	2	170034411	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	41287216	170034411	73164962	10	44623											
TTN	7273	broad.mit.edu	37	chr2	179498031	179498031	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctactccgtacagaggCttttccacttttattagtcg	8	15	6	12	2	1	1	0	0	1	1	4	1	3	1	3	1	2	2	3	1	4	7			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:179498031C>T	ENST00000589042.1	-	233	43193	c.42969G>A	c.(42967-42969)aaG>aaA	p.K14323K	TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.K5383K|TTN_ENST00000342992.6_Silent_p.K11755K|TTN_ENST00000342175.6_Silent_p.K5450K|TTN_ENST00000460472.2_Silent_p.K5258K|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Silent_p.K12682K|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12682							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGTACAGAGGCTTTTCCACTT	0.403													T	179498031	C	T	179498031	2	4	477	1	0	0	0	0	0	0	0	1	16837	796	28	2		2	TTN	2	179498031	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	9463620	179498031	63701342	11	44624											
DNAH7	56171	broad.mit.edu	37	chr2	196720560	196720560	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaggtcagccttctttTgtttatttaattcaagtgtg	7	20	7	7	0	3	0	2	0	1	0	4	0	4	0	2	1	1	1	2	1	3	9			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:196720560T>A	ENST00000312428.6	-	45	8670	c.8570A>T	c.(8569-8571)cAa>cTa	p.Q2857L		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2857	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						AGCCTTCTTTTGTTTATTTAA	0.403													A	196720560	T	A	196720560	3	1	477	1	0	0	0	0	1	0	0	0	4645	1812	63	5	3588	5	DNAH7	2	196720560	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	17222529	196720560	46478813	12	44625											
CRYGB	1419	broad.mit.edu	37	chr2	209007511	209007511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagctgccctccagcaCattgagggagtgaatttcag	10	9	11	11	0	1	2	1	2	0	0	3	4	3	3	3	1	3	2	3	1	1	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:209007511C>T	ENST00000260988.4	-	3	426	c.379G>A	c.(379-381)Gtg>Atg	p.V127M		NM_005210.3	NP_005201.2	P07316	CRGB_HUMAN	crystallin, gamma B	127	Beta/gamma crystallin 'Greek key' 3.				visual perception		structural constituent of eye lens			cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)	14				Epithelial(149;0.0641)|LUSC - Lung squamous cell carcinoma(261;0.0703)|Lung(261;0.132)		CCCTCCAGCACATTGAGGGAG	0.542													T	209007511	C	T	209007511	3	4	477	1	0	0	0	0	1	0	0	0	3946	478	17	2	152	2	CRYGB	2	209007511	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	12286951	209007511	34191862	13	44626											
DGKD	8527	broad.mit.edu	37	chr2	234360660	234360660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggtggctcagtcatcagtCgcctgttaattaatgctgat	8	13	10	10	2	3	1	3	1	0	0	4	1	3	1	2	2	1	3	2	2	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:234360660C>T	ENST00000264057.2	+	18	2230	c.2218C>T	c.(2218-2220)Cgc>Tgc	p.R740C	DGKD_ENST00000409813.3_Missense_Mutation_p.R696C	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	740					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGTCATCAGTCGCCTGTTAAT	0.493													T	234360660	C	T	234360660	3	4	477	1	0	0	0	0	1	0	0	0	4506	884	31	1	2312	1	DGKD	2	234360660	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	25353149	234360660	8838713	14	44627											
COL6A3	1293	broad.mit.edu	37	chr2	238303658	238303658	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtttagtacgatacgtaTttaacaggaactcggtatgt	11	15	9	6	3	0	0	0	0	0	0	1	2	0	1	0	2	4	4	0	2	7	9			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr2:238303658T>C	ENST00000295550.4	-	3	733	c.281A>G	c.(280-282)aAt>aGt	p.N94S	COL6A3_ENST00000353578.4_Intron|COL6A3_ENST00000346358.4_Missense_Mutation_p.N94S|COL6A3_ENST00000347401.3_Missense_Mutation_p.N94S|COL6A3_ENST00000409809.1_Intron|COL6A3_ENST00000392004.3_Intron|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000392003.2_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	94	Nonhelical region.|VWFA 1.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		ACGATACGTATTTAACAGGAA	0.368													C	238303658	T	C	238303658	3	2	477	1	0	0	0	0	1	0	0	0	3732	1493	52	3	9467	3	COL6A3	2	238303658	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08	3942998	238303658	4895715	15	44628											
GPR27	2850	broad.mit.edu	37	chr3	71803791	71803791	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccgtggtggtgggcgccacGcacctcgtctacctccgcct	3	8	13	17	5	1	0	0	0	1	0	3	0	2	0	6	3	1	1	6	3	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:71803791G>T	ENST00000304411.2	+	1	591	c.591G>T	c.(589-591)acG>acT	p.T197T	EIF4E3_ENST00000421769.2_Intron	NM_018971.1	NP_061844.1	Q9NS67	GPR27_HUMAN	G protein-coupled receptor 27	197						integral to membrane|plasma membrane	G-protein coupled receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(1)	5		Prostate(10;0.00899)		BRCA - Breast invasive adenocarcinoma(55;1.78e-05)|Epithelial(33;5.75e-05)|Lung(16;0.0012)|LUSC - Lung squamous cell carcinoma(21;0.00156)		TGGGCGCCACGCACCTCGTCT	0.746													T	71803791	G	T	71803791	2	4	477	1	0	0	0	0	0	0	0	1	6739	1074	38	4		4	GPR27	3	71803791	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		71803791	126218639	16	44629											
VEPH1	79674	broad.mit.edu	37	chr3	156978935	156978935	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataaatccctacagatatgtGgttacttctctactttccct	10	16	4	11	0	1	1	0	0	1	1	4	1	3	1	2	1	3	1	2	1	6	7			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:156978935G>A	ENST00000362010.2	-	14	2797	c.2490C>T	c.(2488-2490)acC>acT	p.T830T	RP11-550I24.2_ENST00000487238.1_RNA|RP11-550I24.2_ENST00000488040.1_RNA|VEPH1_ENST00000392832.2_Silent_p.T830T|RP11-550I24.2_ENST00000475102.1_RNA|VEPH1_ENST00000392833.2_Silent_p.T785T|VEPH1_ENST00000543418.1_Silent_p.T785T	NM_001167912.1	NP_001161384.1	Q14D04	MELT_HUMAN	ventricular zone expressed PH domain-containing 1	830						plasma membrane				autonomic_ganglia(1)|breast(5)|cervix(1)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|pancreas(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			ACAGATATGTGGTTACTTCTC	0.408													A	156978935	G	A	156978935	2	1	477	1	0	0	0	0	0	0	0	1	17256	1335	47	2		2	VEPH1	3	156978935	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	85175144	156978935	41043495	17	44630											
MECOM	2122	broad.mit.edu	37	chr3	168838969	168838969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgagagcgaatgtgcCgctgaaggttgctagggtcc	8	9	15	9	2	0	2	0	2	0	1	1	4	1	2	2	2	4	4	2	2	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr3:168838969C>T	ENST00000464456.1	-	6	1643	c.443G>A	c.(442-444)cGg>cAg	p.R148Q	MECOM_ENST00000494292.1_Missense_Mutation_p.R336Q|MECOM_ENST00000392736.3_Missense_Mutation_p.R148Q|MECOM_ENST00000472280.1_Missense_Mutation_p.R149Q|MECOM_ENST00000460814.1_Missense_Mutation_p.R148Q|MECOM_ENST00000433243.2_Missense_Mutation_p.R149Q|MECOM_ENST00000264674.3_Missense_Mutation_p.R213Q|MECOM_ENST00000468789.1_Missense_Mutation_p.R148Q	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						GCGAATGTGCCGCTGAAGGTT	0.517													T	168838969	C	T	168838969	3	4	477	1	0	0	0	0	1	0	0	0	9497	652	23	1	2756	1	MECOM	3	168838969	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	11860034	168838969	29183461	18	44631											
LETM1	3954	broad.mit.edu	37	chr4	1824793	1824793	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctgcagcgtggcctcCagcttggccttgttgtccac	3	12	10	16	1	0	0	0	0	0	0	4	0	4	0	6	2	3	3	6	2	0	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:1824793C>T	ENST00000302787.2	-	9	1694	c.1398G>A	c.(1396-1398)ctG>ctA	p.L466L		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	466					cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			GCGTGGCCTCCAGCTTGGCCT	0.632													T	1824793	C	T	1824793	2	4	477	1	0	0	0	0	0	0	0	1	8793	581	21	2		2	LETM1	4	1824793	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		1824793	189329483	19	44632											
SMAD1	4086	broad.mit.edu	37	chr4	146435947	146435947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagctgcccagggcaacCgagtaactgtgtcaccattc	9	9	10	13	1	1	1	1	1	0	0	2	2	1	1	3	1	4	3	3	1	2	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr4:146435947C>T	ENST00000515385.1	+	2	724	c.182C>T	c.(181-183)cCg>cTg	p.P61L	SMAD1_ENST00000394092.2_Missense_Mutation_p.P61L|SMAD1_ENST00000302085.4_Missense_Mutation_p.P61L|RP11-301H24.4_ENST00000513542.1_RNA			Q15797	SMAD1_HUMAN	SMAD family member 1	61	MH1.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCAGGGCAACCGAGTAACTGT	0.532													T	146435947	C	T	146435947	3	4	477	1	0	0	0	0	1	0	0	0	14851	652	23	1	184	1	SMAD1	4	146435947	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	144611154	146435947	44718329	20	44633											
IRX1	79192	broad.mit.edu	37	chr5	3599597	3599597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggtctccacctggttcGccaacgcgcgccggcgcctc	4	6	12	19	7	1	0	0	0	1	0	4	0	1	0	5	3	1	2	5	3	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:3599597G>A	ENST00000302006.3	+	2	587	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	179						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CACCTGGTTCGCCAACGCGCG	0.622													A	3599597	G	A	3599597	3	1	477	1	0	0	0	0	1	0	0	0	7901	1087	38	1	541	1	IRX1	5	3599597	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		3599597	177315663	21	44634											
IL31RA	133396	broad.mit.edu	37	chr5	55178899	55178899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccacctaagattttccGtgtgaaaccagttttgggca	11	12	9	9	1	0	3	0	2	0	1	1	3	1	3	4	1	2	2	4	1	3	5	rs142659639		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:55178899G>A	ENST00000396834.1	+	7	921	c.425G>A	c.(424-426)cGt>cAt	p.R142H	IL31RA_ENST00000359040.5_Missense_Mutation_p.R161H|IL31RA_ENST00000354961.4_Missense_Mutation_p.R142H|IL31RA_ENST00000490985.1_Missense_Mutation_p.R19H|IL31RA_ENST00000447346.2_Missense_Mutation_p.R161H|IL31RA_ENST00000297015.3_Missense_Mutation_p.R19H|IL31RA_ENST00000396836.2_Missense_Mutation_p.R161H	NM_001242638.1	NP_001229567.1	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	129	Fibronectin type-III 2.				anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				AAGATTTTCCGTGTGAAACCA	0.353													A	55178899	G	A	55178899	3	1	477	1	0	0	0	0	1	0	0	0	7749	1145	40	1	500	1	IL31RA	5	55178899	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	51579302	55178899	125736361	22	44635											
RASGRF2	5924	broad.mit.edu	37	chr5	80382758	80382758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgctggacaccagccaaaCgttcatccgccaaggtaagt	11	8	9	13	2	1	0	1	0	0	0	2	1	2	1	4	2	3	3	4	2	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:80382758C>T	ENST00000265080.4	+	9	1443	c.1376C>T	c.(1375-1377)aCg>aTg	p.T459M	RASGRF2_ENST00000502677.1_3'UTR	NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	459					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ACCAGCCAAACGTTCATCCGC	0.532													T	80382758	C	T	80382758	3	4	477	1	0	0	0	0	1	0	0	0	13161	536	19	1	1410	1	RASGRF2	5	80382758	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	25203859	80382758	100532502	23	44636											
PCDHGA6	56109	broad.mit.edu	37	chr5	140755693	140755693	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcagcctcgagccctcCgccaaacccaacgattcgga	9	5	10	17	4	0	0	0	0	0	0	3	3	1	1	5	2	4	1	5	2	2	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr5:140755693C>T	ENST00000517434.1	+	1	2043	c.2043C>T	c.(2041-2043)tcC>tcT	p.S681S	PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGAGCCCTCCGCCAAACCCA	0.682													T	140755693	C	T	140755693	2	4	477	1	0	0	0	0	0	0	0	1	11634	639	23	1		1	PCDHGA6	5	140755693	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	60372935	140755693	40159567	24	44637											
GMDS	2762	broad.mit.edu	37	chr6	1961060	1961060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttctggggtatttcctgCactttcccataaagttcact	7	16	6	12	0	2	0	1	0	1	0	5	0	5	0	3	2	1	3	3	2	3	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:1961060C>T	ENST00000380815.4	-	5	755	c.486G>A	c.(484-486)gtG>gtA	p.V162V	GMDS_ENST00000530927.1_Silent_p.V132V	NM_001500.3	NP_001491.1	O60547	GMDS_HUMAN	GDP-mannose 4,6-dehydratase	162					'de novo' GDP-L-fucose biosynthetic process|GDP-mannose metabolic process|leukocyte cell-cell adhesion		coenzyme binding|GDP-mannose 4,6-dehydratase activity		GMDS/PDE8B(2)	breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|prostate(1)	21	Ovarian(93;0.0733)	all_cancers(2;7.64e-19)|all_epithelial(2;3.05e-16)|Colorectal(2;0.00414)|all_hematologic(90;0.00997)|all_lung(73;0.0141)|Lung NSC(90;0.0802)		Epithelial(2;7.61e-06)|all cancers(2;0.000111)|STAD - Stomach adenocarcinoma(2;0.000231)|Colorectal(2;0.00445)|COAD - Colon adenocarcinoma(2;0.0125)|OV - Ovarian serous cystadenocarcinoma(45;0.0563)		GTATTTCCTGCACTTTCCCAT	0.498													T	1961060	C	T	1961060	2	4	477	1	0	0	0	0	0	0	0	1	6542	697	25	2		2	GMDS	6	1961060	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		1961060	169154007	25	44638											
BTN2A1	11120	broad.mit.edu	37	chr6	26463544	26463544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccggctggagtgcatatctaGagggtggtacccaaagcccc	9	7	13	12	1	1	1	0	0	1	1	1	2	1	2	4	4	3	3	4	4	4	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:26463544G>A	ENST00000429381.1	+	4	715	c.503G>A	c.(502-504)aGa>aAa	p.R168K	BTN2A1_ENST00000469185.1_Missense_Mutation_p.R168K|BTN2A1_ENST00000312541.5_Missense_Mutation_p.R168K|BTN2A1_ENST00000541522.1_Missense_Mutation_p.R107K			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	168					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						TGCATATCTAGAGGGTGGTAC	0.587													A	26463544	G	A	26463544	3	1	477	1	0	0	0	0	1	0	0	0	1570	942	33	2	513	2	BTN2A1	6	26463544	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	24502484	26463544	144651523	26	44639											
NOTCH4	4855	broad.mit.edu	37	chr6	32188296	32188296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcctcacagcttgtgcCgccccagccactcacacaca	8	8	6	19	1	3	0	2	0	1	0	4	0	3	0	5	0	3	2	5	0	0	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:32188296C>T	ENST00000375023.3	-	6	1183	c.1045G>A	c.(1045-1047)Ggc>Agc	p.G349S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	349	EGF-like 8; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CAGCTTGTGCCGCCCCAGCCA	0.617													T	32188296	C	T	32188296	3	4	477	1	0	0	0	0	1	0	0	0	10627	652	23	1	5066	1	NOTCH4	6	32188296	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	5724752	32188296	138926771	27	44640											
UNC5CL	222643	broad.mit.edu	37	chr6	41002808	41002808	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggaatgaactctcctggggGcacattcgcctggttactca	8	11	11	11	1	2	1	1	1	1	0	4	2	2	2	2	4	2	2	2	4	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr6:41002808G>A	ENST00000244565.3	-	2	94	c.6C>T	c.(4-6)tgC>tgT	p.C2C	UNC5CL_ENST00000373164.1_Silent_p.C2C	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	2					signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCTCCTGGGGGCACATTCGCC	0.602													A	41002808	G	A	41002808	2	1	477	1	0	0	0	0	0	0	0	1	17096	1195	42	2		2	UNC5CL	6	41002808	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8814512	41002808	130112259	28	44641											
DPY19L1	23333	broad.mit.edu	37	chr7	34978935	34978935	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattcacaatgggccgaagTgcagagagcttaacacttgc	12	9	11	9	1	1	2	1	1	0	1	1	4	1	2	1	1	4	2	1	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:34978935T>A	ENST00000310974.4	-	20	1842	c.1698A>T	c.(1696-1698)gcA>gcT	p.A566A		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	566						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TGGGCCGAAGTGCAGAGAGCT	0.502													A	34978935	T	A	34978935	2	1	477	1	0	0	0	0	0	0	0	1	4779	1683	59	5		5	DPY19L1	7	34978935	Silent	SNP	T	TCGA-FG-6692-01A-11D-1893-08		34978935	124159728	29	44642											
BLVRA	644	broad.mit.edu	37	chr7	43827558	43827558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggccgagccggctccgtgcGgatgagggacttgcggaatc	6	7	17	11	5	0	1	0	1	0	0	2	5	1	4	3	5	3	1	3	5	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43827558G>A	ENST00000402924.1	+	4	231	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	BLVRA_ENST00000265523.4_Missense_Mutation_p.R23Q	NM_001253823.1	NP_001240752.1	P53004	BIEA_HUMAN	biliverdin reductase A	23					heme catabolic process	cytosol	biliverdin reductase activity|zinc ion binding			endometrium(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(2)	12					NADH(DB00157)	GGCTCCGTGCGGATGAGGGAC	0.547													A	43827558	G	A	43827558	3	1	477	1	0	0	0	0	1	0	0	0	1457	1116	39	1	74	1	BLVRA	7	43827558	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8848623	43827558	115311105	30	44643											
UBE2D4	51619	broad.mit.edu	37	chr7	43990260	43990260	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaccccctggtgccagagAtagcacacacctacaaggcc	12	5	9	15	0	0	2	0	1	0	1	0	3	0	2	5	2	3	1	5	2	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:43990260A>G	ENST00000222402.3	+	6	456	c.367A>G	c.(367-369)Ata>Gta	p.I123V	UBE2D4_ENST00000394798.4_Missense_Mutation_p.I85V|POLR2J4_ENST00000427076.1_RNA	NM_015983.3	NP_057067.1	Q9Y2X8	UB2D4_HUMAN	ubiquitin-conjugating enzyme E2D 4 (putative)						protein K11-linked ubiquitination|protein K27-linked ubiquitination|protein K29-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|protein K63-linked ubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			endometrium(1)|large_intestine(2)|lung(1)|pancreas(1)	5						GGTGCCAGAGATAGCACACAC	0.572													G	43990260	A	G	43990260	3	3	477	1	0	0	0	0	1	0	0	0	16953	333	12	3	389	3	UBE2D4	7	43990260	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	162702	43990260	115148403	31	44644											
DDX56	54606	broad.mit.edu	37	chr7	44608558	44608558	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttcaatcttgcctcccGaatggcctgcttagtcactg	6	13	7	15	1	3	0	2	0	1	0	5	1	5	0	4	1	2	1	4	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:44608558G>A	ENST00000258772.5	-	11	1433	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	DDX56_ENST00000431640.1_Missense_Mutation_p.R403W|DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56	443					rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding	p.R443R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTTGCCTCCCGAATGGCCTGC	0.537													A	44608558	G	A	44608558	3	1	477	1	0	0	0	0	1	0	0	0	4408	1057	37	1	332	1	DDX56	7	44608558	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	618298	44608558	114530105	32	44645											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000342916.3_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	477	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	10613264	55221822	103916841	33	44646											
EGFR	1956	broad.mit.edu	37	chr7	55225358	55225358	+	Frame_Shift_Del	DEL	T	T	-																															ctttcatctgccttacagggTttttgctgattcaggcttgg																										TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:55225358delT	ENST00000275493.2	+	11	1387	c.1210delT	c.(1210-1212)tttfs	p.F404fs	EGFR_ENST00000442591.1_Frame_Shift_Del_p.F404fs|EGFR_ENST00000342916.3_Frame_Shift_Del_p.F404fs|EGFR_ENST00000454757.2_Frame_Shift_Del_p.F351fs|EGFR_ENST00000344576.2_Frame_Shift_Del_p.F404fs|EGFR_ENST00000455089.1_Frame_Shift_Del_p.F359fs	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	404					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCTTACAGGGTTTTTGCTGAT	0.448		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			-	55225358	T	-	55225358	7	5	477	1	0	1	0	1	0	0	0	0	5006	1725	60	0	1263	0	EGFR	7	55225358	Frame_Shift_Del	DEL	T	TCGA-FG-6692-01A-11D-1893-08	3536	55225358	103913305	34	44647											
GRM3	2913	broad.mit.edu	37	chr7	86468867	86468867	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcaagaatggcgctcagagGccaaaattcatcagccccag	13	6	10	12	1	4	2	4	0	0	2	4	2	4	2	3	2	1	1	3	2	4	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:86468867G>A	ENST00000361669.2	+	4	3136	c.2037G>A	c.(2035-2037)agG>agA	p.R679R	GRM3_ENST00000439827.1_Intron|GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Silent_p.R551R|GRM3_ENST00000546348.1_Silent_p.R271R	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	679					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	GCGCTCAGAGGCCAAAATTCA	0.547													A	86468867	G	A	86468867	2	1	477	1	0	0	0	0	0	0	0	1	6853	1194	42	2		2	GRM3	7	86468867	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	31243509	86468867	72669796	35	44648											
DOCK4	9732	broad.mit.edu	37	chr7	111634282	111634282	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgggaataaccatttcaaAttgtctgtgaaattaaaaaa	18	12	7	4	0	2	1	1	1	1	0	2	2	2	2	1	1	1	0	1	1	7	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:111634282A>G	ENST00000428084.1	-	5	495	c.223T>C	c.(223-225)Ttt>Ctt	p.F75L	DOCK4_ENST00000437633.1_Missense_Mutation_p.F75L|DOCK4_ENST00000476846.1_5'UTR			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	75					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				ACCATTTCAAATTGTCTGTGA	0.308													G	111634282	A	G	111634282	3	3	477	1	0	0	0	0	1	0	0	0	4728	101	4	3	5869	3	DOCK4	7	111634282	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	25165415	111634282	47504381	36	44649											
KEL	3792	broad.mit.edu	37	chr7	142655048	142655048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccatttaccagagatgcGccagcctccaagctttaaag	12	9	8	12	1	0	1	0	0	0	1	2	2	2	1	5	0	4	1	5	0	4	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:142655048G>A	ENST00000355265.2	-	6	1012	c.538C>T	c.(538-540)Cgc>Tgc	p.R180C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	180			R -> P (in KEL24 antigen).		proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCAGAGATGCGCCAGCCTCCA	0.517													A	142655048	G	A	142655048	3	1	477	1	0	0	0	0	1	0	0	0	8200	1087	38	1	1716	1	KEL	7	142655048	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	31020766	142655048	16483615	37	44650											
GIMAP4	55303	broad.mit.edu	37	chr7	150269789	150269789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgctgggcctgatccagCgcgtggtgagggagaacaag	9	7	17	8	2	0	3	0	2	0	1	1	4	1	3	2	3	3	2	2	3	2	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr7:150269789C>T	ENST00000255945.2	+	3	806	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225C|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCTGATCCAGCGCGTGGTGAG	0.542													T	150269789	C	T	150269789	3	4	477	1	0	0	0	0	1	0	0	0	6437	768	27	1	637	1	GIMAP4	7	150269789	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	7614741	150269789	8868874	38	44651											
BLK	640	broad.mit.edu	37	chr8	11414294	11414294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcggctggtccgactctaCgcagtggtcaccaaggagcc	8	6	14	13	3	2	0	1	0	1	0	3	3	3	1	3	4	3	2	3	4	2	1	rs139994406	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:11414294C>T	ENST00000259089.4	+	9	1492	c.900C>T	c.(898-900)taC>taT	p.Y300Y	BLK_ENST00000529894.1_Silent_p.Y229Y|RP11-148O21.4_ENST00000528629.1_RNA	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	300	Protein kinase.				intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity	p.Y300Y(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		TCCGACTCTACGCAGTGGTCA	0.617													T	11414294	C	T	11414294	2	4	477	1	0	0	0	0	0	0	0	1	1450	547	19	1		1	BLK	8	11414294	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08		11414294	134949728	39	44652											
RP1	6101	broad.mit.edu	37	chr8	55538303	55538303	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttttcaagtaataactctGgaactgacaaaaatatttct	16	15	4	6	0	3	1	1	1	2	0	3	2	3	2	0	1	2	1	0	1	7	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:55538303G>A	ENST00000220676.1	+	4	2009	c.1861G>A	c.(1861-1863)Gga>Aga	p.G621R		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	621					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAATAACTCTGGAACTGACAA	0.373													A	55538303	G	A	55538303	3	1	477	1	0	0	0	0	1	0	0	0	13623	1349	47	2	1871	2	RP1	8	55538303	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	44124009	55538303	90825719	40	44653											
PSKH2	85481	broad.mit.edu	37	chr8	87081703	87081703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcgaacttggctcggaagCgagccacctgtatcctctgc	7	9	12	13	3	1	0	0	0	1	0	4	3	2	1	3	3	4	2	3	3	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:87081703C>T	ENST00000276616.2	-	1	223	c.149G>A	c.(148-150)cGc>cAc	p.R50H	PSKH2_ENST00000517981.1_Intron	NM_033126.1	NP_149117.1	Q96QS6	KPSH2_HUMAN	protein serine kinase H2	50							ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|kidney(11)|large_intestine(2)|lung(26)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(1)	47			STAD - Stomach adenocarcinoma(118;0.129)			GGCTCGGAAGCGAGCCACCTG	0.672													T	87081703	C	T	87081703	3	4	477	1	0	0	0	0	1	0	0	0	12750	768	27	1	1018	1	PSKH2	8	87081703	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	31543400	87081703	59282319	41	44654											
COL14A1	7373	broad.mit.edu	37	chr8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaaattgatgaggtgaCgacagacagttttagggtga	13	11	13	4	1	0	6	0	4	0	2	0	7	0	6	0	2	0	1	0	2	3	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483													T	121238908	C	T	121238908	3	4	477	1	0	0	0	0	1	0	0	0	3702	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	34157205	121238908	25125114	42	44655											
COL22A1	169044	broad.mit.edu	37	chr8	139895346	139895346	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccgctgagcctggcagcCgccgcccccactccacagca	6	4	10	21	3	0	1	0	1	0	0	1	1	1	1	7	1	4	3	7	1	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr8:139895346C>T	ENST00000303045.6	-	2	516	c.70G>A	c.(70-72)Ggc>Agc	p.G24S	COL22A1_ENST00000435777.1_Missense_Mutation_p.G24S	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	24					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GCCTGGCAGCCGCCGCCCCCA	0.672										HNSCC(7;0.00092)			T	139895346	C	T	139895346	3	4	477	1	0	0	0	0	1	0	0	0	3712	652	23	1	5066	1	COL22A1	8	139895346	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	18656438	139895346	6468676	43	44656											
SYK	6850	broad.mit.edu	37	chr9	93606246	93606246	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcggcaacatcacccgGgaggaggcagaagattacct	11	9	11	10	2	1	2	1	0	0	2	2	4	1	4	2	4	2	2	2	4	3	3	rs139401525	by1000genomes	TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr9:93606246G>A	ENST00000375754.4	+	2	214	c.66G>A	c.(64-66)cgG>cgA	p.R22R	SYK_ENST00000476708.1_3'UTR|SYK_ENST00000375747.1_Silent_p.R22R|SYK_ENST00000375746.1_Silent_p.R22R|SYK_ENST00000375751.4_Silent_p.R22R	NM_003177.5	NP_003168.2	P43405	KSYK_HUMAN	spleen tyrosine kinase	22	SH2 1.				cell proliferation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte cell-cell adhesion|neutrophil chemotaxis|organ morphogenesis|platelet activation|protein complex assembly	cytosol|T cell receptor complex	ATP binding|integrin binding|non-membrane spanning protein tyrosine kinase activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)|skin(2)|stomach(2)	26						ACATCACCCGGGAGGAGGCAG	0.632			T	"ETV6, ITK"	"MDS, peripheral T-cell lymphoma"								A	93606246	G	A	93606246	2	1	477	1	0	0	0	0	0	0	0	1	15535	1219	43	2		2	SYK	9	93606246	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		93606246	47607185	44	44657											
PTEN	5728	broad.mit.edu	37	chr10	89624305	89624305	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcgacttagacttgaccTgtatccatttctgcggctgc	7	14	9	11	2	1	2	0	1	1	1	3	4	2	2	2	1	2	2	2	1	2	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:89624305T>G	ENST00000371953.3	+	1	1436	c.79T>G	c.(79-81)Tat>Gat	p.Y27D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	27	Phosphatase tensin-type.		Y -> S (loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.Y27D(2)|p.Y27N(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGACTTGACCTGTATCCATTT	0.463		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624305	T	G	89624305	5	3	477	1	0	0	0	0	0	0	1	0	12823	1594	55	5	81	5	PTEN	10	89624305	Splice_Site	SNP	T	TCGA-FG-6692-01A-11D-1893-08		89624305	45910442	45	44658											
MYOF	26509	broad.mit.edu	37	chr10	95070355	95070355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttcccggctggcctctcgtCggcctccttctcgttgagga	2	12	11	16	4	2	1	0	1	2	0	7	2	4	2	4	4	0	2	4	4	0	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:95070355C>T	ENST00000371501.4	-	52	6057	c.5935G>A	c.(5935-5937)Gac>Aac	p.D1979N	MYOF_ENST00000371502.4_Missense_Mutation_p.D1969N|MYOF_ENST00000359263.4_Missense_Mutation_p.D1979N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1966N			Q9NZM1	MYOF_HUMAN	myoferlin	1979					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						GGCCTCTCGTCGGCCTCCTTC	0.493													T	95070355	C	T	95070355	3	4	477	1	0	0	0	0	1	0	0	0	10165	884	31	1	262	1	MYOF	10	95070355	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	5446050	95070355	40464392	46	44659											
DUSP5	1847	broad.mit.edu	37	chr10	112262482	112262482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tttgtttgtttttgtaggggGatatgagactttctactcgg	6	19	12	4	1	1	1	0	1	1	1	2	3	1	2	0	3	1	3	0	3	3	8			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr10:112262482G>A	ENST00000369583.3	+	2	667	c.383G>A	c.(382-384)gGa>gAa	p.G128E		NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	128	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		TTTGTAGGGGGATATGAGACT	0.408													A	112262482	G	A	112262482	3	1	477	1	0	0	0	0	1	0	0	0	4867	1174	41	2	389	2	DUSP5	10	112262482	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	17192127	112262482	23272265	47	44660											
DEAF1	10522	broad.mit.edu	37	chr11	686996	686996	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcaccgtccccggccGcctgcaaggaagggcagcag	8	5	14	14	3	0	1	0	1	0	0	1	2	1	2	5	3	3	4	5	3	2	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:686996G>A	ENST00000382409.3	-	5	1150	c.666C>T	c.(664-666)ggC>ggT	p.G222G	DEAF1_ENST00000338675.6_Intron	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	222	SAND.				embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GTCCCCGGCCGCCTGCAAGGA	0.607													A	686996	G	A	686996	5	1	477	1	0	0	0	0	0	0	1	0	4414	1101	38	1	1063	1	DEAF1	11	686996	Splice_Site	SNP	G	TCGA-FG-6692-01A-11D-1893-08		686996	134319520	48	44661											
USH1C	10083	broad.mit.edu	37	chr11	17531254	17531254	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggcagagggagtcttgggGggatagtagaacatgtccaa	13	7	16	5	0	1	2	0	0	1	2	2	4	2	4	1	5	1	2	1	5	5	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:17531254G>A	ENST00000005226.7	-	18	1661	c.1662C>T	c.(1660-1662)ccC>ccT	p.P554P	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron|USH1C_ENST00000318024.4_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGTCTTGGGGGGATAGTAGA	0.632													A	17531254	G	A	17531254	2	1	477	1	0	0	0	0	0	0	0	1	17136	1219	43	2		2	USH1C	11	17531254	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	16844258	17531254	117475262	49	44662											
KCNA4	3739	broad.mit.edu	37	chr11	30033223	30033223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccatgacgagatccctgtCgtccctaaactcaggcaagg	10	8	10	13	2	1	2	1	1	0	1	4	3	3	2	3	2	2	1	3	2	3	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:30033223C>T	ENST00000328224.6	-	2	2236	c.1003G>A	c.(1003-1005)Gac>Aac	p.D335N		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	335						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity	p.D335N(1)		central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						AGATCCCTGTCGTCCCTAAAC	0.517													T	30033223	C	T	30033223	3	4	477	1	0	0	0	0	1	0	0	0	8063	884	31	1	962	1	KCNA4	11	30033223	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	12501969	30033223	104973293	50	44663											
OR4X2	119764	broad.mit.edu	37	chr11	48266712	48266712	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggaggtgcagagggtttgCtttgtgatatttctgttctt	6	17	13	5	0	2	2	0	1	2	1	2	3	2	3	0	3	2	4	0	3	1	6			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48266712C>T	ENST00000302329.3	+	1	105	c.57C>T	c.(55-57)tgC>tgT	p.C19C		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGAGGGTTTGCTTTGTGATAT	0.448													T	48266712	C	T	48266712	2	4	477	1	0	0	0	0	0	0	0	1	11161	805	28	2		2	OR4X2	11	48266712	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	18233489	48266712	86739804	51	44664											
OR4X1	390113	broad.mit.edu	37	chr11	48286042	48286042	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctccgtagtcagtttcttCgtgctgatggcttcctacct	5	16	8	12	2	3	1	1	1	2	0	6	1	4	1	3	1	2	4	3	1	2	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:48286042C>T	ENST00000320048.1	+	1	630	c.630C>T	c.(628-630)ttC>ttT	p.F210F		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						TCAGTTTCTTCGTGCTGATGG	0.562													T	48286042	C	T	48286042	2	4	477	1	0	0	0	0	0	0	0	1	11160	883	31	1		1	OR4X1	11	48286042	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	19330	48286042	86720474	52	44665											
WNT11	7481	broad.mit.edu	37	chr11	75898143	75898143	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctccacggtacgctcaCacctgcggcaggtgacgtag	8	6	13	14	5	1	1	1	1	0	0	2	1	2	1	2	3	3	5	2	3	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr11:75898143C>A	ENST00000322563.3	-	5	1155	c.1031G>T	c.(1030-1032)tGt>tTt	p.C344F		NM_004626.2	NP_004617.2	O96014	WNT11_HUMAN	wingless-type MMTV integration site family, member 11	344					adrenal gland development|anterior/posterior pattern formation|artery morphogenesis|axis specification|bone mineralization|cellular response to retinoic acid|cloacal septation|embryonic skeletal system development|endoderm development|lung-associated mesenchyme development|mesonephric duct development|negative regulation of apoptosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cartilage development|negative regulation of cell growth|negative regulation of cell migration|negative regulation of transcription, DNA-dependent|neuroendocrine cell differentiation|neuron differentiation|osteoblast differentiation|outflow tract morphogenesis|palate development|positive regulation of cell migration|positive regulation of protein kinase C signaling cascade|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor-beta2 production|protein localization at cell surface|protein phosphorylation|tight junction assembly|ureteric bud morphogenesis|ventricular septum morphogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	G-protein-coupled receptor binding|protein kinase activator activity|Ras GTPase activator activity|transcription regulatory region DNA binding	p.C344Y(2)		breast(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						GGTACGCTCACACCTGCGGCA	0.642													A	75898143	C	A	75898143	3	1	477	1	0	0	0	0	1	0	0	0	17486	478	17	4	37	4	WNT11	11	75898143	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	27612101	75898143	59108373	53	44666											
A2M	2	broad.mit.edu	37	chr12	9246146	9246146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaacatgcaccaggcGtgcatggcctcttcccatta	8	11	7	15	1	3	0	1	0	2	0	4	0	4	0	3	2	3	2	3	2	2	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:9246146G>A	ENST00000318602.7	-	18	2462	c.2155C>T	c.(2155-2157)Cgc>Tgc	p.R719C		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	719	Bait region.|Inhibitory.				blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	TGCACCAGGCGTGCATGGCCT	0.443													A	9246146	G	A	9246146	3	1	477	1	0	0	0	0	1	0	0	0	4	1145	40	1	2345	1	A2M	12	9246146	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		9246146	124605749	54	44667											
EP400	57634	broad.mit.edu	37	chr12	132466657	132466657	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaggaatgccccccacgccGcaggccgcgcagctcgctgg	6	3	15	17	5	0	0	0	0	0	0	1	2	0	2	5	4	2	4	5	4	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr12:132466657G>T	ENST00000333577.4	+	6	1780	c.1671G>T	c.(1669-1671)ccG>ccT	p.P557P	EP400_ENST00000330386.6_Silent_p.P521P|EP400_ENST00000389562.2_Silent_p.P520P|EP400_ENST00000389561.2_Silent_p.P521P|EP400_ENST00000332482.4_Silent_p.P484P			Q96L91	EP400_HUMAN	E1A binding protein p400	557					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		CCCCCACGCCGCAGGCCGCGC	0.592													T	132466657	G	T	132466657	2	4	477	1	0	0	0	0	0	0	0	1	5190	1074	38	4		4	EP400	12	132466657	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	123220511	132466657	1385238	55	44668											
GJA3	2700	broad.mit.edu	37	chr13	20716908	20716908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggtagagcggcttcagctCgaagccgtacagaaagtact	11	7	13	10	4	1	2	1	0	0	2	2	3	1	2	1	2	5	5	1	2	5	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr13:20716908C>T	ENST00000241125.3	-	2	696	c.520G>A	c.(520-522)Gag>Aag	p.E174K		NM_021954.3	NP_068773.2	Q9Y6H8	CXA3_HUMAN	gap junction protein, alpha 3, 46kDa	174					cell-cell signaling|visual perception	connexon complex|integral to membrane				NS(1)|endometrium(1)|kidney(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7		all_cancers(29;1.4e-21)|all_epithelial(30;8.75e-19)|all_lung(29;1.28e-17)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000554)|Epithelial(112;0.000872)|OV - Ovarian serous cystadenocarcinoma(117;0.0105)|Lung(94;0.0251)|LUSC - Lung squamous cell carcinoma(192;0.0784)		GGCTTCAGCTCGAAGCCGTAC	0.597													T	20716908	C	T	20716908	3	4	477	1	0	0	0	0	1	0	0	0	6458	893	31	1	791	1	GJA3	13	20716908	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08		20716908	94452970	56	44669											
DHRS2	10202	broad.mit.edu	37	chr14	24109024	24109024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagcactgtgggggcGtcgacttcctggtgtgcagc	4	9	16	12	2	0	0	0	0	0	0	2	2	1	1	2	4	3	2	2	4	0	1	rs146408773		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:24109024G>A	ENST00000250383.6	+	4	816	c.340G>A	c.(340-342)Gtc>Atc	p.V114I	DHRS2_ENST00000344777.7_Missense_Mutation_p.V114I|DHRS2_ENST00000553896.1_3'UTR	NM_005794.3	NP_005785.1	Q13268	DHRS2_HUMAN	dehydrogenase/reductase (SDR family) member 2	92					C21-steroid hormone metabolic process|cellular response to oxidative stress|myeloid dendritic cell differentiation|negative regulation of apoptosis|negative regulation of cell proliferation|response to toxin	mitochondrion|nuclear envelope	binding|carbonyl reductase (NADPH) activity			endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00659)		CTGTGGGGGCGTCGACTTCCT	0.642													A	24109024	G	A	24109024	3	1	477	1	0	0	0	0	1	0	0	0	4529	1145	40	1	350	1	DHRS2	14	24109024	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		24109024	83240516	57	44670											
LRFN5	145581	broad.mit.edu	37	chr14	42356700	42356700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctcctctcattactcGtcatacacatgagatgagag	11	11	8	11	1	2	3	2	3	1	2	5	5	3	3	2	0	3	0	2	0	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:42356700G>A	ENST00000554171.1	+	5	3304	c.872G>A	c.(871-873)cGt>cAt	p.R291H	LRFN5_ENST00000554120.1_Missense_Mutation_p.R291H|LRFN5_ENST00000298119.4_Missense_Mutation_p.R291H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	291	Ig-like.					integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CTCATTACTCGTCATACACAT	0.488										HNSCC(30;0.082)			A	42356700	G	A	42356700	3	1	477	1	0	0	0	0	1	0	0	0	9011	1145	40	1	874	1	LRFN5	14	42356700	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	18247676	42356700	64992840	58	44671											
FSCB	84075	broad.mit.edu	37	chr14	44975176	44975176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctacagaaggagactcttCagctgatggaggctgaattt	11	11	11	8	0	3	4	1	2	2	2	3	6	3	5	0	3	2	2	0	3	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:44975176C>T	ENST00000340446.4	-	1	1306	c.1015G>A	c.(1015-1017)Gaa>Aaa	p.E339K		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	339	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GGAGACTCTTCAGCTGATGGA	0.517													T	44975176	C	T	44975176	3	4	477	1	0	0	0	0	1	0	0	0	6118	835	29	2	1466	2	FSCB	14	44975176	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	2618476	44975176	62374364	59	44672											
PRPF39	55015	broad.mit.edu	37	chr14	45583422	45583422	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatgaacatcaaacactcctGaaagaacaggattctttaaa	18	9	6	8	0	2	3	1	2	1	1	3	5	3	4	1	1	3	0	1	1	6	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:45583422G>A	ENST00000355765.6	+	12	1964	c.1794G>A	c.(1792-1794)ctG>ctA	p.L598L		NM_017922.3	NP_060392.3	Q86UA1	PRP39_HUMAN	pre-mRNA processing factor 39	598					mRNA processing|RNA splicing	nucleus	binding			breast(2)|endometrium(2)|kidney(4)|lung(3)|ovary(1)	12						AAACACTCCTGAAAGAACAGG	0.318													A	45583422	G	A	45583422	2	1	477	1	0	0	0	0	0	0	0	1	12655	1277	45	2		2	PRPF39	14	45583422	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	608246	45583422	61766118	60	44673											
LTBP2	4053	broad.mit.edu	37	chr14	74969480	74969480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagggacggtgtcctcGgggcccaggtagttgtagaa	7	8	17	9	2	1	1	1	0	0	1	3	2	2	2	2	6	0	4	2	6	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:74969480G>A	ENST00000261978.4	-	34	5432	c.5046C>T	c.(5044-5046)ccC>ccT	p.P1682P	LTBP2_ENST00000556690.1_Silent_p.P1638P	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	1682					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CGGTGTCCTCGGGGCCCAGGT	0.632													A	74969480	G	A	74969480	2	1	477	1	0	0	0	0	0	0	0	1	9144	1103	39	1		1	LTBP2	14	74969480	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	29386058	74969480	32380060	61	44674											
KCNK10	54207	broad.mit.edu	37	chr14	88652407	88652407	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcccgctgcagcttatcGtggatctccacgctgagcct	5	9	11	16	4	1	1	0	1	1	0	3	2	1	2	4	1	3	4	4	1	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:88652407G>A	ENST00000340700.5	-	7	1540	c.1089C>T	c.(1087-1089)caC>caT	p.H363H	KCNK10_ENST00000312350.5_Silent_p.H368H|KCNK10_ENST00000319231.5_Silent_p.H368H	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	363					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						GCAGCTTATCGTGGATCTCCA	0.662													A	88652407	G	A	88652407	2	1	477	1	0	0	0	0	0	0	0	1	8117	1136	40	1		1	KCNK10	14	88652407	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	13682927	88652407	18697133	62	44675											
VRK1	7443	broad.mit.edu	37	chr14	97326941	97326941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaattactagactacactGaaaaacctctttatgaaaat	18	12	4	7	0	1	4	0	3	1	1	1	4	1	4	1	0	3	0	1	0	9	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:97326941G>A	ENST00000216639.3	+	11	1086	c.937G>A	c.(937-939)Gaa>Aaa	p.E313K	VRK1_ENST00000555067.1_3'UTR	NM_003384.2	NP_003375.1	Q99986	VRK1_HUMAN	vaccinia related kinase 1	313	Protein kinase.					cytoplasm|nucleolus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|endometrium(1)|large_intestine(5)|lung(3)|skin(1)|stomach(1)	12		Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.234)		AGACTACACTGAAAAACCTCT	0.323													A	97326941	G	A	97326941	3	1	477	1	0	0	0	0	1	0	0	0	17321	1291	45	2	975	2	VRK1	14	97326941	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	8674534	97326941	10022599	63	44676											
SIVA1	10572	broad.mit.edu	37	chr14	105222095	105222095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggccccgagggctgcaCgtgggcagatgctgattgga	7	6	18	10	2	0	2	0	1	0	1	0	4	0	3	2	5	2	4	2	5	0	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr14:105222095C>T	ENST00000329967.6	+	2	349	c.247C>T	c.(247-249)Cgt>Tgt	p.R83C	SIVA1_ENST00000347067.5_Intron	NM_006427.3	NP_006418.2	O15304	SIVA_HUMAN	SIVA1, apoptosis-inducing factor	83					activation of caspase activity by cytochrome c|activation-induced cell death of T cells|apoptosis|induction of apoptosis|interspecies interaction between organisms|negative regulation of anti-apoptosis|negative regulation of NF-kappaB transcription factor activity	cytoplasm|mitochondrion|nucleoplasm|nucleus	caspase activator activity|CD27 receptor binding|metal ion binding|viral receptor activity|zinc ion binding			large_intestine(1)|lung(1)|prostate(1)	3		all_cancers(154;0.14)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.173)		GAGGGCTGCACGTGGGCAGAT	0.667													T	105222095	C	T	105222095	3	4	477	1	0	0	0	0	1	0	0	0	14439	536	19	1	253	1	SIVA1	14	105222095	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	7895154	105222095	2127445	64	44677											
NDN	4692	broad.mit.edu	37	chr15	23932258	23932258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggctctgccagggtcGcggacggaggaaccccctcc	5	6	14	16	4	2	0	0	0	2	0	4	3	3	3	4	5	3	1	4	5	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr15:23932258G>A	ENST00000331837.4	-	1	192	c.107C>T	c.(106-108)gCg>gTg	p.A36V		NM_002487.2	NP_002478.1	Q99608	NECD_HUMAN	necdin, melanoma antigen (MAGE) family member	36					negative regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|perikaryon	DNA binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(23)|ovary(1)|prostate(2)|skin(1)	39		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00179)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		TGCCAGGGTCGCGGACGGAGG	0.701									Prader-Willi syndrome				A	23932258	G	A	23932258	3	1	477	1	0	0	0	0	1	0	0	0	10323	1087	38	1	862	1	NDN	15	23932258	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		23932258	78599134	65	44678											
E4F1	1877	broad.mit.edu	37	chr16	2282496	2282496	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggtcactcacagcagcCgcaaggaccacgagtgcaag	13	4	11	13	2	2	0	2	0	0	0	2	2	2	1	2	2	3	3	2	2	2	0	rs144383218		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:2282496C>T	ENST00000301727.4	+	5	697	c.649C>T	c.(649-651)Cgc>Tgc	p.R217C	E4F1_ENST00000564139.1_Missense_Mutation_p.R217C|E4F1_ENST00000565090.1_Missense_Mutation_p.R217C	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	217	Mediates dimerization, DNA-binding, transcription repression of CCNA2 and interaction with HMGA2.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						TCACAGCAGCCGCAAGGACCA	0.697													T	2282496	C	T	2282496	3	4	477	1	0	0	0	0	1	0	0	0	4913	652	23	1	667	1	E4F1	16	2282496	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08		2282496	88072257	66	44679											
ITGAD	3681	broad.mit.edu	37	chr16	31405625	31405625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttccaggaggatgcaggcGgctttgggcagagcgtggtg	6	9	18	8	2	1	1	0	0	1	1	2	3	2	3	1	6	2	3	1	6	0	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:31405625G>A	ENST00000389202.2	+	2	149	c.100G>A	c.(100-102)Ggc>Agc	p.G34S		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	34					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	p.G34C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGATGCAGGCGGCTTTGGGCA	0.582													A	31405625	G	A	31405625	3	1	477	1	0	0	0	0	1	0	0	0	7942	1116	39	1	106	1	ITGAD	16	31405625	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	29123129	31405625	58949128	67	44680											
JPH3	57338	broad.mit.edu	37	chr16	87678021	87678021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacggcgctgcatcccgaCgcctctccggcggtggccgg	3	5	16	17	7	1	0	0	0	1	0	3	1	2	0	4	6	1	3	4	6	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr16:87678021C>T	ENST00000284262.2	+	2	782	c.540C>T	c.(538-540)gaC>gaT	p.D180D		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	180					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		TGCATCCCGACGCCTCTCCGG	0.697													T	87678021	C	T	87678021	2	4	477	1	0	0	0	0	0	0	0	1	8020	535	19	1		1	JPH3	16	87678021	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	56272396	87678021	2676732	68	44681											
FAM64A	54478	broad.mit.edu	37	chr17	6348675	6348675	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagccaggtcagcagggccTccaggctgcagctcgctcag	8	5	14	14	1	2	1	2	0	0	1	4	1	3	1	3	3	4	5	3	3	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:6348675T>C	ENST00000572447.1	+	2	354	c.245T>C	c.(244-246)cTc>cCc	p.L82P	FAM64A_ENST00000572595.2_Missense_Mutation_p.L82P|FAM64A_ENST00000576056.1_Missense_Mutation_p.L82P|FAM64A_ENST00000570337.2_Missense_Mutation_p.L82P|FAM64A_ENST00000250056.8_Missense_Mutation_p.L82P|FAM64A_ENST00000571373.1_Missense_Mutation_p.L82P	NM_019013.2	NP_061886.2	Q9BSJ6	FA64A_HUMAN	family with sequence similarity 64, member A	82						nucleolus	protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				COAD - Colon adenocarcinoma(228;0.141)		CAGCAGGGCCTCCAGGCTGCA	0.577													C	6348675	T	C	6348675	3	2	477	1	0	0	0	0	1	0	0	0	5648	1551	54	3	247	3	FAM64A	17	6348675	Missense_Mutation	SNP	T	TCGA-FG-6692-01A-11D-1893-08		6348675	74846535	69	44682											
MYH8	4626	broad.mit.edu	37	chr17	10297737	10297737	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccttgaggtcctcctggccCcggagagcatcatccaggtg	6	9	12	14	1	1	2	1	1	0	1	5	3	5	2	6	4	1	1	6	4	0	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:10297737C>T	ENST00000403437.2	-	35	5089	c.4995G>A	c.(4993-4995)cgG>cgA	p.R1665R	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1665					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTCCTGGCCCCGGAGAGCAT	0.532									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10297737	C	T	10297737	2	4	477	1	0	0	0	0	0	0	0	1	10117	610	22	2		2	MYH8	17	10297737	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	3949062	10297737	70897473	70	44683											
RNF112	7732	broad.mit.edu	37	chr17	19316707	19316707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagccaccccttcttgctgGggaaagaagggaagaaggtg	11	6	16	8	0	1	2	0	0	1	2	1	5	1	5	3	5	2	1	3	5	4	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:19316707G>A	ENST00000461366.1	+	5	918	c.703G>A	c.(703-705)Ggg>Agg	p.G235R	RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	235							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CTTCTTGCTGGGGAAAGAAGG	0.627													A	19316707	G	A	19316707	3	1	477	1	0	0	0	0	1	0	0	0	13517	1232	43	2	431	2	RNF112	17	19316707	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	9018970	19316707	61878503	71	44684											
NAGLU	4669	broad.mit.edu	37	chr17	40695945	40695945	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgatttctacgagcagAacagccgctaccagctgacc	11	6	10	14	3	1	2	0	1	1	1	1	4	1	2	4	1	6	3	4	1	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:40695945A>G	ENST00000225927.2	+	6	2022	c.1921A>G	c.(1921-1923)Aac>Gac	p.N641D	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	641						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CTACGAGCAGAACAGCCGCTA	0.627													G	40695945	A	G	40695945	3	3	477	1	0	0	0	0	1	0	0	0	10219	246	9	3	1943	3	NAGLU	17	40695945	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	21379238	40695945	40499265	72	44685											
MPO	4353	broad.mit.edu	37	chr17	56355470	56355470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggaagaacgggatgcagtCggcttggttcttgatgcggg	7	9	18	7	4	1	2	0	1	1	1	2	4	1	4	0	5	3	3	0	5	2	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56355470C>T	ENST00000340482.3	-	6	1194	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N	MPO_ENST00000578493.1_5'UTR|MPO_ENST00000225275.3_Missense_Mutation_p.D308N			P05164	PERM_HUMAN	myeloperoxidase	308					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGATGCAGTCGGCTTGGTTC	0.622													T	56355470	C	T	56355470	3	4	477	1	0	0	0	0	1	0	0	0	9808	884	31	1	1339	1	MPO	17	56355470	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	15659525	56355470	24839740	73	44686											
BZRAP1	9256	broad.mit.edu	37	chr17	56402928	56402928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagcctggcctgcagctcCctgcactcccgctgcaaggc	5	7	12	17	1	0	1	0	1	0	0	2	1	2	1	4	2	5	5	4	2	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:56402928C>T	ENST00000355701.3	-	4	1587	c.717G>A	c.(715-717)agG>agA	p.R239R	BZRAP1-AS1_ENST00000579527.1_RNA|BZRAP1_ENST00000343736.4_Silent_p.R239R|BZRAP1_ENST00000268893.6_Intron	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	239						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCTGCAGCTCCCTGCACTCCC	0.657													T	56402928	C	T	56402928	2	4	477	1	0	0	0	0	0	0	0	1	1587	622	22	2		2	BZRAP1	17	56402928	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	47458	56402928	24792282	74	44687											
KCNJ2	3759	broad.mit.edu	37	chr17	68171691	68171691	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaatcgtgggctgcatcAtcgatgctttcatcattggc	8	13	10	10	2	4	0	4	0	0	0	6	1	4	0	0	2	2	3	0	2	1	2	rs150326473		TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:68171691A>G	ENST00000243457.3	+	2	894	c.511A>G	c.(511-513)Atc>Gtc	p.I171V	KCNJ2_ENST00000535240.1_Missense_Mutation_p.I171V	NM_000891.2	NP_000882.1	P63252	IRK2_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 2	171					synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(13)|skin(1)|urinary_tract(1)	25	Breast(10;1.64e-08)					GGGCTGCATCATCGATGCTTT	0.483													G	68171691	A	G	68171691	3	3	477	1	0	0	0	0	1	0	0	0	8109	217	8	3	513	3	KCNJ2	17	68171691	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	11768763	68171691	13023519	75	44688											
CANT1	124583	broad.mit.edu	37	chr17	76991223	76991223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctcgttcaccacatcacCcgtagtggtcgtccactcct	6	12	7	16	3	3	0	2	0	1	0	7	0	5	0	4	1	0	3	4	1	1	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:76991223C>T	ENST00000302345.2	-	3	1206	c.712G>A	c.(712-714)Ggt>Agt	p.G238S	CANT1_ENST00000392446.5_Missense_Mutation_p.G238S|CANT1_ENST00000591773.1_Missense_Mutation_p.G238S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	238					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACCACATCACCCGTAGTGGTC	0.627			T	ETV4	prostate								T	76991223	C	T	76991223	3	4	477	1	0	0	0	0	1	0	0	0	2643	623	22	2	501	2	CANT1	17	76991223	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	8819532	76991223	4203987	76	44689											
RNF213	57674	broad.mit.edu	37	chr17	78354716	78354716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgtgaccgagggctgcccCcagtggtcttcctccttatc	5	11	10	15	1	1	1	0	1	1	0	4	2	3	1	5	2	1	1	5	2	1	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:78354716C>T	ENST00000582970.1	+	56	13869	c.13726C>T	c.(13726-13728)Cca>Tca	p.P4576S	RNF213_ENST00000336301.6_Missense_Mutation_p.P2649S|RNF213_ENST00000508628.2_Missense_Mutation_p.P4625S|CTD-2047H16.4_ENST00000572151.1_RNA|CTD-2047H16.4_ENST00000575034.1_RNA	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	ring finger protein 213	0										NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AGGGCTGCCCCCAGTGGTCTT	0.597													T	78354716	C	T	78354716	3	4	477	1	0	0	0	0	1	0	0	0	13568	623	22	2	14263	2	RNF213	17	78354716	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	1363493	78354716	2840494	77	44690											
NPLOC4	55666	broad.mit.edu	37	chr17	79526328	79526328	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcgcagtggcctgtgcctGgctggttcatgaacgtgcag	5	11	14	11	2	2	1	1	1	1	0	3	1	2	1	2	3	3	4	2	3	1	1			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr17:79526328G>A	ENST00000331134.6	-	17	1999	c.1784C>T	c.(1783-1785)cCa>cTa	p.P595L	NPLOC4_ENST00000572760.1_3'UTR|NPLOC4_ENST00000573876.1_3'UTR	NM_017921.2	NP_060391.2	Q8TAT6	NPL4_HUMAN	nuclear protein localization 4 homolog (S. cerevisiae)	595					cellular membrane fusion|ER-associated protein catabolic process|Golgi organization	cytosol|endoplasmic reticulum|nuclear outer membrane-endoplasmic reticulum membrane network|nucleus	zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	11	all_neural(118;0.0878)|Melanoma(429;0.242)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			GCCTGTGCCTGGCTGGTTCAT	0.672													A	79526328	G	A	79526328	3	1	477	1	0	0	0	0	1	0	0	0	10662	1348	47	2	46	2	NPLOC4	17	79526328	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	1171612	79526328	1668882	78	44691											
COLEC12	81035	broad.mit.edu	37	chr18	346546	346546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttagattgctggtcagcGtccgcaggtggtgggctgtg	5	12	16	8	2	1	1	1	0	0	1	2	1	2	1	1	4	2	3	1	4	1	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:346546G>A	ENST00000400256.3	-	5	1283	c.1076C>T	c.(1075-1077)aCg>aTg	p.T359M		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	359					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				GCTGGTCAGCGTCCGCAGGTG	0.473													A	346546	G	A	346546	3	1	477	1	0	0	0	0	1	0	0	0	3743	1145	40	1	1176	1	COLEC12	18	346546	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08		346546	77730702	79	44692											
WDR7	23335	broad.mit.edu	37	chr18	54424326	54424326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaccccactgcaccgtatcGtttggcctcttgtcaagagg	9	10	9	13	2	2	1	1	0	1	1	3	1	2	1	4	2	2	3	4	2	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:54424326G>A	ENST00000254442.3	+	15	2713	c.2502G>A	c.(2500-2502)tcG>tcA	p.S834S	WDR7_ENST00000357574.3_Silent_p.S834S|WDR7_ENST00000589935.1_Intron	NM_015285.2	NP_056100.2	Q9Y4E6	WDR7_HUMAN	WD repeat domain 7	834										NS(1)|breast(5)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(37)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	78				Lung(128;0.0238)|Colorectal(16;0.0296)		GCACCGTATCGTTTGGCCTCT	0.493													A	54424326	G	A	54424326	2	1	477	1	0	0	0	0	0	0	0	1	17422	1132	40	1		1	WDR7	18	54424326	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08	54077780	54424326	23652922	80	44693											
SERPINB7	8710	broad.mit.edu	37	chr18	61449685	61449685	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacaatcaaggaaatggaAatgtgttcttttcctctctg	12	14	8	7	0	3	1	1	1	2	0	5	3	4	3	1	2	0	1	1	2	4	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr18:61449685A>T	ENST00000398019.2	+	2	404	c.79A>T	c.(79-81)Aat>Tat	p.N27Y	SERPINB7_ENST00000546027.1_Missense_Mutation_p.N27Y|SERPINB7_ENST00000336429.2_Missense_Mutation_p.N27Y|SERPINB7_ENST00000540675.1_Missense_Mutation_p.N27Y	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	27					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				AGGAAATGGAAATGTGTTCTT	0.507													T	61449685	A	T	61449685	3	4	477	1	0	0	0	0	1	0	0	0	14199	14	1	5	81	5	SERPINB7	18	61449685	Missense_Mutation	SNP	A	TCGA-FG-6692-01A-11D-1893-08	7025359	61449685	16627563	81	44694											
ACER1	125981	broad.mit.edu	37	chr19	6312225	6312225	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgctatagccactgcccagGagccacaggatggcgatctc	10	7	11	13	1	1	0	0	0	1	0	2	3	1	2	3	3	4	1	3	3	2	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:6312225G>A	ENST00000301452.4	-	3	362	c.285C>T	c.(283-285)ctC>ctT	p.L95L		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	95						endoplasmic reticulum membrane|integral to membrane	ceramidase activity			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						CACTGCCCAGGAGCCACAGGA	0.627													A	6312225	G	A	6312225	2	1	477	1	0	0	0	0	0	0	0	1	138	1161	41	2		2	ACER1	19	6312225	Silent	SNP	G	TCGA-FG-6692-01A-11D-1893-08		6312225	52816758	82	44695											
OR1M1	125963	broad.mit.edu	37	chr19	9204448	9204448	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgaggtgcctcaCtacttctgcgacctcactcc	7	9	9	16	1	3	1	2	1	1	0	4	2	4	1	4	2	4	1	4	2	1	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:9204448C>T	ENST00000429566.3	+	1	594	c.528C>T	c.(526-528)caC>caT	p.H176H		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						AGGTGCCTCACTACTTCTGCG	0.572													T	9204448	C	T	9204448	2	4	477	1	0	0	0	0	0	0	0	1	11044	564	20	2		2	OR1M1	19	9204448	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	2892223	9204448	49924535	83	44696											
ZNF441	126068	broad.mit.edu	37	chr19	11890886	11890886	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagataatagtcaatgtggaGgaccctttacccagactcaa	15	9	8	9	0	2	2	2	0	0	2	2	4	2	4	2	2	1	0	2	2	6	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:11890886G>T	ENST00000357901.4	+	4	349	c.247G>T	c.(247-249)Gga>Tga	p.G83*	ZNF441_ENST00000454339.2_Nonsense_Mutation_p.G16*	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	83					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						TCAATGTGGAGGACCCTTTAC	0.383													T	11890886	G	T	11890886	4	4	477	1	0	0	0	0	0	1	0	0	18015	1001	35	4	261	4	ZNF441	19	11890886	Nonsense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	2686438	11890886	47238097	84	44697											
ZNF431	170959	broad.mit.edu	37	chr19	21366713	21366713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acataggaaaattcatactaGacagaaaccctacaactgtg	18	8	6	9	0	1	2	1	0	0	2	1	3	1	3	1	1	4	0	1	1	8	5			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:21366713G>C	ENST00000311048.7	+	5	1751	c.1607G>C	c.(1606-1608)aGa>aCa	p.R536T	ZNF431_ENST00000594425.1_Intron|ZNF431_ENST00000600692.1_3'UTR	NM_133473.2	NP_597730.2	Q8TF32	ZN431_HUMAN	zinc finger protein 431	536					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23						ATTCATACTAGACAGAAACCC	0.323													C	21366713	G	C	21366713	3	2	477	1	0	0	0	0	1	0	0	0	18006	942	33	4	1625	4	ZNF431	19	21366713	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	9475827	21366713	37762270	85	44698											
ZNF536	9745	broad.mit.edu	37	chr19	31040141	31040141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacagcagcagcgatggCggggacagcctgcagcccac	12	2	14	13	2	0	1	0	0	0	1	0	3	0	2	2	3	6	3	2	3	1	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:31040141C>T	ENST00000355537.3	+	4	3762	c.3615C>T	c.(3613-3615)ggC>ggT	p.G1205G		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1205					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCAGCGATGGCGGGGACAGCC	0.597													T	31040141	C	T	31040141	2	4	477	1	0	0	0	0	0	0	0	1	18075	755	27	1		1	ZNF536	19	31040141	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	9673428	31040141	28088842	86	44699											
LMTK3	114783	broad.mit.edu	37	chr19	49000820	49000820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgggggccacctccggcCtggctctcgggggcgctggc	1	6	17	17	4	1	0	0	0	1	0	4	0	2	0	5	7	0	2	5	7	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:49000820C>T	ENST00000600059.1	-	11	3733	c.3506G>A	c.(3505-3507)aGg>aAg	p.R1169K	LMTK3_ENST00000270238.3_Missense_Mutation_p.R1198K					lemur tyrosine kinase 3											breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(9)|prostate(1)	16		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000114)|all cancers(93;0.000141)|Epithelial(262;0.00854)|GBM - Glioblastoma multiforme(486;0.0231)		CACCTCCGGCCTGGCTCTCGG	0.761													T	49000820	C	T	49000820	3	4	477	1	0	0	0	0	1	0	0	0	8921	681	24	2	896	2	LMTK3	19	49000820	Missense_Mutation	SNP	C	TCGA-FG-6692-01A-11D-1893-08	17960679	49000820	10128163	87	44700											
IL4I1	259307	broad.mit.edu	37	chr19	50393077	50393077	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtcagatgcgtgcccCtcggggctggccgtgtccga	4	9	14	14	4	1	1	1	0	0	1	4	2	3	1	5	3	2	1	5	3	0	0			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:50393077C>T	ENST00000595948.1	-	10	2240	c.1620G>A	c.(1618-1620)gaG>gaA	p.E540E	IL4I1_ENST00000341114.3_Silent_p.E540E|IL4I1_ENST00000391826.2_Silent_p.E518E	NM_001258018.1	NP_001244947.1	Q96RQ9	OXLA_HUMAN	interleukin 4 induced 1	518						lysosome	L-amino-acid oxidase activity	p.E540E(1)		endometrium(3)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	16		all_lung(116;1.47e-05)|all_neural(266;0.0459)|Ovarian(192;0.0481)		GBM - Glioblastoma multiforme(134;0.00245)|OV - Ovarian serous cystadenocarcinoma(262;0.0169)		ATGCGTGCCCCTCGGGGCTGG	0.687													T	50393077	C	T	50393077	2	4	477	1	0	0	0	0	0	0	0	1	7755	680	24	2		2	IL4I1	19	50393077	Silent	SNP	C	TCGA-FG-6692-01A-11D-1893-08	1392257	50393077	8735906	88	44701											
SHANK1	50944	broad.mit.edu	37	chr19	51175329	51175329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggcaggaaagaaggacGctcgtaacttggctgggcac	11	6	16	8	2	0	1	0	0	0	1	1	4	0	4	0	6	1	5	0	6	3	2			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:51175329G>A	ENST00000293441.1	-	21	2638	c.2620C>T	c.(2620-2622)Cgt>Tgt	p.R874C	SHANK1_ENST00000391813.1_Missense_Mutation_p.R261C|SHANK1_ENST00000359082.3_Missense_Mutation_p.R865C|SHANK1_ENST00000391814.1_Missense_Mutation_p.R882C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	874					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	p.R874C(1)		breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AAAGAAGGACGCTCGTAACTT	0.577													A	51175329	G	A	51175329	3	1	477	1	0	0	0	0	1	0	0	0	14358	1087	38	1	3877	1	SHANK1	19	51175329	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	782252	51175329	7953654	89	44702											
ZNF331	55422	broad.mit.edu	37	chr19	54074900	54074900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagccatagacttttctcagGaggagtgggcctgtctgaac	9	11	12	9	0	2	2	1	1	2	1	3	4	2	4	2	3	2	0	2	3	3	4			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chr19:54074900G>A	ENST00000253144.9	+	6	1385	c.52G>A	c.(52-54)Gag>Aag	p.E18K	ZNF331_ENST00000449416.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511593.2_Missense_Mutation_p.E18K|ZNF331_ENST00000513999.1_Missense_Mutation_p.E18K|ZNF331_ENST00000511154.1_Missense_Mutation_p.E18K|ZNF331_ENST00000512387.1_Missense_Mutation_p.E18K|ZNF331_ENST00000513265.1_Missense_Mutation_p.E18K|ZNF331_ENST00000411977.2_Missense_Mutation_p.E18K	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		CTTTTCTCAGGAGGAGTGGGC	0.517			T	?	follicular thyroid adenoma								A	54074900	G	A	54074900	3	1	477	1	0	0	0	0	1	0	0	0	17950	1175	41	2	58	2	ZNF331	19	54074900	Missense_Mutation	SNP	G	TCGA-FG-6692-01A-11D-1893-08	2899571	54074900	5054083	90	44703											
CHRDL1	91851	broad.mit.edu	37	chrX	110002887	110002887	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaaagagacaaattgctttAcctgggcagcgagggcagca	14	6	13	8	1	0	2	0	0	0	2	0	4	0	2	1	2	4	4	1	2	3	3			TCGA-FG-6692-01A-11D-1893-08	TCGA-FG-6692-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a1f89c84-3301-45a0-b0ad-ab80779f23d4	7da7cbb5-e882-4c6b-9da5-326ba7e9ca69	g.chrX:110002887A>T	ENST00000218054.4	-	4	498		c.e4+1		CHRDL1_ENST00000434224.1_Splice_Site|CHRDL1_ENST00000444321.2_Splice_Site|CHRDL1_ENST00000372045.1_Splice_Site|CHRDL1_ENST00000482160.1_Splice_Site|CHRDL1_ENST00000372042.1_Splice_Site|CHRDL1_ENST00000394797.4_Splice_Site	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1						BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						AAATTGCTTTACCTGGGCAGC	0.473													T	110002887	A	T	110002887	5	4	477	1	0	0	0	0	0	0	1	0	3403	405	14	5	1109	5	CHRDL1	23	110002887	Splice_Site	SNP	A	TCGA-FG-6692-01A-11D-1893-08		110002887	45267673	91	44704											
OR10J5	127385	broad.mit.edu	37	chr1	159505463	159505463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccattgcagtaagcaggaagCaattattagtggccaagata	15	9	10	7	0	0	1	0	0	0	1	0	2	0	2	2	2	3	4	2	2	7	5			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr1:159505463C>T	ENST00000334857.2	-	1	379	c.335G>A	c.(334-336)tGc>tAc	p.C112Y		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					AAGCAGGAAGCAATTATTAGT	0.468													T	159505463	C	T	159505463	3	4	478	1	0	0	0	0	1	0	0	0	10988	710	25	2	596	2	OR10J5	1	159505463	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		159505463	89745158	1	44705											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	478	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		209113112	34086261	2	44706											
GLB1L	79411	broad.mit.edu	37	chr2	220103270	220103270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaatgaatgggcccacgggGgcaaagcaagtctaggaaag	14	5	15	7	1	1	2	0	2	1	0	1	3	1	3	1	4	1	2	1	4	6	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr2:220103270G>A	ENST00000295759.7	-	13	1487	c.1174C>T	c.(1174-1176)Ccc>Tcc	p.P392S	GLB1L_ENST00000356283.3_Missense_Mutation_p.P302S|GLB1L_ENST00000409640.1_Missense_Mutation_p.P302S|GLB1L_ENST00000392089.2_Missense_Mutation_p.P392S|GLB1L_ENST00000497855.1_5'UTR			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	392					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCCACGGGGGCAAAGCAAG	0.448													A	220103270	G	A	220103270	3	1	478	1	0	0	0	0	1	0	0	0	6484	1232	43	2	810	2	GLB1L	2	220103270	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	10990158	220103270	23096103	3	44707											
ZNF148	7707	broad.mit.edu	37	chr3	124952387	124952387	+	Frame_Shift_Del	DEL	T	T	-																															cagacttctcttactattaaTttttttgagaactaacttag																										TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:124952387delT	ENST00000360647.4	-	9	1668	c.1183delA	c.(1183-1185)attfs	p.I395fs	ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.I395fs|ZNF148_ENST00000484491.1_Frame_Shift_Del_p.I395fs|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	395					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TTACTATTAATTTTTTTGAGA	0.383													-	124952387	T	-	124952387	7	5	478	1	0	1	0	1	0	0	0	0	17835	1493	52	0	1205	0	ZNF148	3	124952387	Frame_Shift_Del	DEL	T	TCGA-FG-7634-01A-11D-2086-08		124952387	73070043	4	44708											
ACAD11	84129	broad.mit.edu	37	chr3	132277850	132277850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtcttttggcttggtcccGcagctccattgttgcgattg	4	15	11	11	2	1	0	0	0	1	0	3	1	3	0	2	2	2	4	2	2	0	6			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:132277850G>A	ENST00000264990.6	-	20	3279	c.2308C>T	c.(2308-2310)Cgg>Tgg	p.R770W	ACAD11_ENST00000545291.1_Missense_Mutation_p.R295W|ACAD11_ENST00000355458.3_Missense_Mutation_p.R666W	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCTTGGTCCCGCAGCTCCATT	0.463													A	132277850	G	A	132277850	3	1	478	1	0	0	0	0	1	0	0	0	109	1086	38	1	38	1	ACAD11	3	132277850	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	7325463	132277850	65744580	5	44709											
PIK3CA	5290	broad.mit.edu	37	chr3	178916645	178916645	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accatcatcaggtgaactgtGgggcatccacttgatgcccc	9	9	10	13	0	2	2	2	2	0	0	3	2	3	2	4	3	2	1	4	3	1	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr3:178916645G>C	ENST00000263967.3	+	2	189	c.32G>C	c.(31-33)tGg>tCg	p.W11S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	11					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.W11L(2)|p.L10_M16del(1)|p.E9_R19del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GGTGAACTGTGGGGCATCCAC	0.403		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178916645	G	C	178916645	3	2	478	1	0	0	0	0	1	0	0	0	11990	1357	47	4	34	4	PIK3CA	3	178916645	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	46638795	178916645	19105785	6	44710											
PCDH7	5099	broad.mit.edu	37	chr4	30725853	30725853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aatctaaaaagcctaaaaagGacaagaaaaacaaaaaatct	26	5	4	6	0	2	1	0	0	2	1	2	2	2	2	1	1	2	0	1	1	13	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:30725853G>C	ENST00000361762.2	+	1	3817	c.2809G>C	c.(2809-2811)Gac>Cac	p.D937H	PCDH7_ENST00000543491.1_Missense_Mutation_p.D937H	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	937					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GCCTAAAAAGGACAAGAAAAA	0.398													C	30725853	G	C	30725853	3	2	478	1	0	0	0	0	1	0	0	0	11592	1174	41	4	2811	4	PCDH7	4	30725853	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08		30725853	160428423	7	44711											
GABRA4	2557	broad.mit.edu	37	chr4	46967171	46967171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctatgaaccagtccatggcgGtagcataggacactttgggc	10	9	12	10	1	0	1	0	1	0	0	1	2	1	2	2	4	2	2	2	4	4	4			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr4:46967171G>A	ENST00000264318.3	-	8	1932	c.950C>T	c.(949-951)aCc>aTc	p.T317I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GTCCATGGCGGTAGCATAGGA	0.433													A	46967171	G	A	46967171	3	1	478	1	0	0	0	0	1	0	0	0	6215	1261	44	2	722	2	GABRA4	4	46967171	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	16241318	46967171	144187105	8	44712											
BEND3	57673	broad.mit.edu	37	chr6	107391126	107391126	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccagcttgcggtggtcGaagagctcggggaagagccg	8	6	16	11	4	1	2	1	0	0	2	3	4	1	3	2	4	4	2	2	4	2	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr6:107391126G>A	ENST00000429433.2	-	5	1918	c.1269C>T	c.(1267-1269)ttC>ttT	p.F423F	BEND3_ENST00000369042.1_Silent_p.F423F	NM_001080450.2	NP_001073919.1	Q5T5X7	BEND3_HUMAN	BEN domain containing 3	423	BEN 2.									central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(7)|lung(10)|ovary(4)|prostate(3)	30						TGCGGTGGTCGAAGAGCTCGG	0.622													A	107391126	G	A	107391126	2	1	478	1	0	0	0	0	0	0	0	1	1404	1049	37	1		1	BEND3	6	107391126	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		107391126	63723941	9	44713											
ABCB4	5244	broad.mit.edu	37	chr7	87074281	87074282	+	Frame_Shift_Ins	INS	-	-	A																															gaaagctccaattaggattgINSaaaaaaaaacctgagcaaaa																										TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr7:87074281_87074282insA	ENST00000265723.4	-	10	1126_1127	c.1015_1016insT	c.(1015-1017)tcafs	p.S339fs	ABCB4_ENST00000453593.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000358400.3_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000545634.1_Frame_Shift_Ins_p.S339fs|ABCB4_ENST00000359206.3_Frame_Shift_Ins_p.S339fs	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	339	ABC transmembrane type-1 1.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity	p.S339fs*3(1)		breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					AATTAGGATTGAAAAAAAAACC	0.347													A	87074282	-	A	87074281	7	5	478	1	0	1	1	0	0	0	0	0	43	1294	45	0	2920	0	ABCB4	7	87074281	Frame_Shift_Ins	INS	-	TCGA-FG-7634-01A-11D-2086-08		87074281	72064382	10	44714											
EPHX2	2053	broad.mit.edu	37	chr8	27401706	27401706	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggggtttcctttcagattCcccacctgaaaaggggacac	9	10	10	12	0	1	2	1	1	0	1	3	3	3	3	4	4	0	1	4	4	2	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr8:27401706C>A	ENST00000521400.1	+	18	1964	c.1534C>A	c.(1534-1536)Ccc>Acc	p.P512T	EPHX2_ENST00000521780.1_Missense_Mutation_p.P446T|EPHX2_ENST00000518379.1_Missense_Mutation_p.P480T|EPHX2_ENST00000517536.1_Missense_Mutation_p.P329T|EPHX2_ENST00000380476.3_Missense_Mutation_p.P459T	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	512	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity			cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	CTTTCAGATTCCCCACCTGAA	0.572													A	27401706	C	A	27401706	3	1	478	1	0	0	0	0	1	0	0	0	5221	855	30	4	1604	4	EPHX2	8	27401706	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		27401706	118962316	11	44715											
PLIN2	123	broad.mit.edu	37	chr9	19116570	19116570	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtacaccttggatgttGgacaggagggtgtggcacgt	7	11	17	6	1	0	0	0	0	0	0	0	3	0	3	1	6	1	3	1	6	1	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:19116570G>A	ENST00000276914.2	-	8	1169	c.990C>T	c.(988-990)tcC>tcT	p.S330S	PLIN2_ENST00000411567.1_Silent_p.S249S	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	330					cellular lipid metabolic process	endoplasmic reticulum|extracellular region|lipid particle				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						CTTGGATGTTGGACAGGAGGG	0.493													A	19116570	G	A	19116570	2	1	478	1	0	0	0	0	0	0	0	1	12167	1335	47	2		2	PLIN2	9	19116570	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		19116570	122096861	12	44716											
ABCA1	19	broad.mit.edu	37	chr9	107645364	107645364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaatgttctcagaactttgCgcatgtccttcatgctggtg	7	15	10	9	1	2	1	2	0	1	1	4	1	3	1	1	1	3	4	1	1	2	4	rs138438101		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr9:107645364C>T	ENST00000374736.3	-	5	771	c.377G>A	c.(376-378)cGc>cAc	p.R126H	ABCA1_ENST00000374733.1_Missense_Mutation_p.R66H|ABCA1_ENST00000423487.2_Missense_Mutation_p.R126H	NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	126					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding	p.R126H(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	CAGAACTTTGCGCATGTCCTT	0.453													T	107645364	C	T	107645364	3	4	478	1	0	0	0	0	1	0	0	0	28	768	27	1	6592	1	ABCA1	9	107645364	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08	88528794	107645364	33568067	13	44717											
PDE6C	5146	broad.mit.edu	37	chr10	95381756	95381756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgacagtttcacaaagCgctctacacggttagatcat	12	10	9	10	3	3	2	2	1	1	1	3	3	3	2	0	1	3	3	0	1	3	3	rs143673530	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr10:95381756C>T	ENST00000371447.3	+	4	929	c.791C>T	c.(790-792)gCg>gTg	p.A264V		NM_006204.3	NP_006195.3	P51160	PDE6C_HUMAN	phosphodiesterase 6C, cGMP-specific, cone, alpha prime	264	GAF 2.				visual perception	plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|metal ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	42		Colorectal(252;0.123)				TTTCACAAAGCGCTCTACACG	0.388													T	95381756	C	T	95381756	3	4	478	1	0	0	0	0	1	0	0	0	11723	768	27	1	805	1	PDE6C	10	95381756	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		95381756	40152991	14	44718											
F2	2147	broad.mit.edu	37	chr11	46742097	46742097	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctgggccaagtacacaGgtgagcaccgggaaggattt	10	9	14	8	1	1	1	0	1	1	0	1	3	1	3	2	4	2	3	2	4	3	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:46742097G>A	ENST00000311907.5	+	3	321	c.265G>A	c.(265-267)Gct>Act	p.A89T	F2_ENST00000530231.1_Splice_Site_p.A89T	NM_000506.3	NP_000497.1	P00734	THRB_HUMAN	coagulation factor II (thrombin)	89	Gla.				activation of caspase activity|acute-phase response|blood coagulation, intrinsic pathway|cell surface receptor linked signaling pathway|cytosolic calcium ion homeostasis|fibrinolysis|leukocyte migration|negative regulation of astrocyte differentiation|negative regulation of fibrinolysis|negative regulation of platelet activation|negative regulation of proteolysis|peptidyl-glutamic acid carboxylation|platelet activation|positive regulation of collagen biosynthetic process|positive regulation of protein phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of release of sequestered calcium ion into cytosol|post-translational protein modification|proteolysis|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	cytosol|endoplasmic reticulum lumen|extracellular space|Golgi lumen|plasma membrane|soluble fraction	calcium ion binding|growth factor activity|serine-type endopeptidase activity|thrombospondin receptor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	27		all_lung(304;0.000414)|Lung NSC(402;0.0011)		BRCA - Breast invasive adenocarcinoma(625;0.146)	Antihemophilic Factor(DB00025)|Argatroban(DB00278)|Bivalirudin(DB00006)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)|Enoxaparin(DB01225)|Heparin(DB01109)|Lepirudin(DB00001)|Menadione(DB00170)|Proflavine(DB01123)|Simvastatin(DB00641)|Suramin(DB04786)|Warfarin(DB00682)|Ximelagatran(DB04898)	CAAGTACACAGGTGAGCACCG	0.532													A	46742097	G	A	46742097	5	1	478	1	0	0	0	0	0	0	1	0	5384	1014	35	2	275	2	F2	11	46742097	Splice_Site	SNP	G	TCGA-FG-7634-01A-11D-2086-08		46742097	88264419	15	44719											
OR4A5	81318	broad.mit.edu	37	chr11	51411931	51411931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtacacaacaatttgaaaCgcagaatgtacaaaacctcc	17	8	5	11	1	0	2	0	1	0	1	1	2	1	2	2	0	5	3	2	0	8	3	rs140587389	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr11:51411931C>T	ENST00000319760.6	-	1	517	c.465G>A	c.(463-465)gcG>gcA	p.A155A		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	155					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A155A(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CAATTTGAAACGCAGAATGTA	0.453													T	51411931	C	T	51411931	2	4	478	1	0	0	0	0	0	0	0	1	11119	523	19	1		1	OR4A5	11	51411931	Silent	SNP	C	TCGA-FG-7634-01A-11D-2086-08	4669834	51411931	83594585	16	44720											
IQSEC3	440073	broad.mit.edu	37	chr12	280470	280470	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaatttcaagagatacaAttaaaagttactgctagcat	17	12	5	7	0	1	1	1	0	0	1	1	2	1	1	1	0	5	3	1	0	9	6			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:280470A>T	ENST00000382841.2	+	13	2675	c.2263A>T	c.(2263-2265)Att>Ttt	p.I755F	IQSEC3_ENST00000538872.1_Intron|IQSEC3_ENST00000326261.4_Intron|IQSEC3_ENST00000537151.1_Intron|RP11-598F7.6_ENST00000537295.1_lincRNA	NM_015232.1	NP_056047.1	Q9UPP2	IQEC3_HUMAN	IQ motif and Sec7 domain 3	0	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(10;0.016)|all_lung(10;0.0222)|all_epithelial(11;0.0262)|Lung NSC(10;0.031)		OV - Ovarian serous cystadenocarcinoma(31;0.00456)	LUAD - Lung adenocarcinoma(1;0.172)|Lung(1;0.179)		AAGAGATACAATTAAAAGTTA	0.493													T	280470	A	T	280470	3	4	478	1	0	0	0	0	1	0	0	0	7877	101	4	5	3226	5	IQSEC3	12	280470	Missense_Mutation	SNP	A	TCGA-FG-7634-01A-11D-2086-08		280470	133571425	17	44721											
DNAH10	196385	broad.mit.edu	37	chr12	124358200	124358200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcgaaccaaagatacttaCggcccacccatgggaaaacg	16	4	9	12	3	0	1	0	0	0	1	0	3	0	2	3	2	5	0	3	2	7	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr12:124358200C>T	ENST00000409039.3	+	45	7552	c.7527C>T	c.(7525-7527)taC>taT	p.Y2509Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2509	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		AAGATACTTACGGCCCACCCA	0.473													T	124358200	C	T	124358200	2	4	478	1	0	0	0	0	0	0	0	1	4637	547	19	1		1	DNAH10	12	124358200	Silent	SNP	C	TCGA-FG-7634-01A-11D-2086-08	124077730	124358200	9493695	18	44722											
PCDH9	5101	broad.mit.edu	37	chr13	67800158	67800158	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtcctcattttgatagggTtggctactatcccctatgtt	7	17	8	9	0	1	1	1	1	0	0	3	1	3	1	3	2	1	3	3	2	5	9			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr13:67800158T>C	ENST00000544246.1	-	2	3106	c.2415A>G	c.(2413-2415)caA>caG	p.Q805Q	PCDH9_ENST00000377861.3_Silent_p.Q805Q|PCDH9_ENST00000456367.1_Silent_p.Q805Q|PCDH9_ENST00000377865.2_Silent_p.Q805Q|PCDH9_ENST00000328454.5_Silent_p.Q805Q	NM_203487.2	NP_982354.1	Q9HC56	PCDH9_HUMAN	protocadherin 9	805					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		TTTGATAGGGTTGGCTACTAT	0.483													C	67800158	T	C	67800158	2	2	478	1	0	0	0	0	0	0	0	1	11594	1722	60	3		3	PCDH9	13	67800158	Silent	SNP	T	TCGA-FG-7634-01A-11D-2086-08		67800158	47369720	19	44723											
SFTA3	253970	broad.mit.edu	37	chr14	36946257	36946257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttcctggacttggcacGcaaacagcgacacaggtggg	10	7	13	11	2	0	0	0	0	0	0	1	2	1	1	1	4	2	3	1	4	1	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr14:36946257G>A	ENST00000518529.2	-	3	855	c.180C>T	c.(178-180)tgC>tgT	p.C60C	RP11-896J10.3_ENST00000521945.1_RNA|SFTA3_ENST00000518987.1_Intron	NM_001101341.1	NP_001094811.1	P0C7M3	SFTA3_HUMAN	surfactant associated 3	60								p.C60C(1)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7						GACTTGGCACGCAAACAGCGA	0.517													A	36946257	G	A	36946257	2	1	478	1	0	0	0	0	0	0	0	1	14281	1079	38	1		1	SFTA3	14	36946257	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08		36946257	70403283	20	44724											
SLFN11	91607	broad.mit.edu	37	chr17	33679774	33679774	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttccctgaacaccctgggaCcattcggcttcaggaaatac	10	9	9	13	1	1	1	1	1	0	0	3	3	2	3	3	3	2	2	3	3	3	4			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:33679774C>T	ENST00000394566.1	-	7	2579	c.2307G>A	c.(2305-2307)tgG>tgA	p.W769*	SLFN11_ENST00000308377.4_Nonsense_Mutation_p.W769*	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	769						nucleus	ATP binding			autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		CACCCTGGGACCATTCGGCTT	0.443													T	33679774	C	T	33679774	4	4	478	1	0	0	0	0	0	1	0	0	14827	508	18	2	402	2	SLFN11	17	33679774	Nonsense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		33679774	47515436	21	44725											
CDK12	51755	broad.mit.edu	37	chr17	37676268	37676268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacactagatcctagtaagcGgtgcacagctgaacagaccc	13	6	10	12	1	0	3	0	1	0	2	1	4	1	3	2	1	4	3	2	1	4	3			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:37676268G>A	ENST00000447079.4	+	11	3056	c.3023G>A	c.(3022-3024)cGg>cAg	p.R1008Q	CDK12_ENST00000430627.2_Missense_Mutation_p.R1008Q	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1008	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CCTAGTAAGCGGTGCACAGCT	0.473			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			A	37676268	G	A	37676268	3	1	478	1	0	0	0	0	1	0	0	0	3158	1116	39	1	3065	1	CDK12	17	37676268	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	3996494	37676268	43518942	22	44726											
ACE	1636	broad.mit.edu	37	chr17	61560474	61560474	+	Frame_Shift_Del	DEL	G	G	-																															cttggtggaccagtggcgctGgggggtctttagtgggcgta																										TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr17:61560474delG	ENST00000290866.4	+	9	1451	c.1427delG	c.(1426-1428)tggfs	p.W476fs	ACE_ENST00000584529.1_Intron|ACE_ENST00000428043.1_Frame_Shift_Del_p.W476fs|ACE_ENST00000538928.1_Intron	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	476	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CAGTGGCGCTGGGGGGTCTTT	0.532													-	61560474	G	-	61560474	7	5	478	1	0	1	0	1	0	0	0	0	136	1357	47	0	1461	0	ACE	17	61560474	Frame_Shift_Del	DEL	G	TCGA-FG-7634-01A-11D-2086-08	23884206	61560474	19634736	23	44727											
SEH1L	81929	broad.mit.edu	37	chr18	12955479	12955479	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacacatagtggatctgtAtggcgtgtgacatgggccca	10	9	13	9	1	1	2	0	1	1	1	1	3	1	3	1	3	0	1	1	3	2	2	rs140218685	byFrequency	TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr18:12955479A>G	ENST00000262124.11	+	3	307	c.180A>G	c.(178-180)gtA>gtG	p.V60V	SEH1L_ENST00000399892.2_Silent_p.V60V	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)	60					attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						GTGGATCTGTATGGCGTGTGA	0.398													G	12955479	A	G	12955479	2	3	478	1	0	0	0	0	0	0	0	1	14102	436	16	3		3	SEH1L	18	12955479	Silent	SNP	A	TCGA-FG-7634-01A-11D-2086-08		12955479	65121769	24	44728											
CLEC17A	388512	broad.mit.edu	37	chr19	14694175	14694176	+	In_Frame_Ins	INS	-	-	GGA																															tttcccctggaagggaccatINSggaggaggaggaggaggatg																								rs34295949		TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:14694175_14694176insGGA	ENST00000547437.1	+	2	127_128	c.50_51insGGA	c.(49-54)atggag>atGGAggag	p.22_23insE	CLEC17A_ENST00000417570.1_In_Frame_Ins_p.22_23insE|CLEC17A_ENST00000397439.2_In_Frame_Ins_p.22_23insE	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity										GAAGGGACCATGGAGGAGGAGG	0.579													GGA	14694176	-	GGA	14694175	7	5	478	1	0	1	1	0	0	0	0	0	3532	1464	51	0	56	0	CLEC17A	19	14694175	In_Frame_Ins	INS	-	TCGA-FG-7634-01A-11D-2086-08		14694175	44434808	25	44729											
CIC	23152	broad.mit.edu	37	chr19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccctggaccagcgccGggccctggtcatgcagctct	5	6	13	17	3	2	0	1	0	1	0	2	1	2	1	4	3	3	3	4	3	0	0			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:42798840G>A	ENST00000572681.2	+	20	7198	c.7130G>A	c.(7129-7131)cGg>cAg	p.R2377Q	CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q|CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								A	42798840	G	A	42798840	3	1	478	1	0	0	0	0	1	0	0	0	3454	1116	39	1	4486	1	CIC	19	42798840	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	28104665	42798840	16330143	26	44730											
ZNF347	84671	broad.mit.edu	37	chr19	53652555	53652555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtacaaagtcctctgagcGgggtccaggcatgtccactc	8	9	11	13	1	1	1	0	1	1	0	5	1	4	1	3	3	2	2	3	3	2	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:53652555G>A	ENST00000452676.2	-	3	507	c.81C>T	c.(79-81)ccC>ccT	p.P27P	ZNF347_ENST00000601469.2_Silent_p.P27P|ZNF347_ENST00000334197.7_Silent_p.P27P|ZNF347_ENST00000601804.1_Intron	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	27	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P27P(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TCCTCTGAGCGGGGTCCAGGC	0.502													A	53652555	G	A	53652555	2	1	478	1	0	0	0	0	0	0	0	1	17962	1103	39	1		1	ZNF347	19	53652555	Silent	SNP	G	TCGA-FG-7634-01A-11D-2086-08	10853715	53652555	5476428	27	44731											
LILRA2	11027	broad.mit.edu	37	chr19	55086389	55086389	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctgggccatcttctccGtgggccccgtgagcccgagt	3	9	14	15	3	2	1	0	1	2	0	4	2	3	1	6	3	1	0	6	3	0	1			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr19:55086389G>A	ENST00000251377.3	+	5	677	c.544G>A	c.(544-546)Gtg>Atg	p.V182M	LILRA2_ENST00000391738.3_Missense_Mutation_p.V182M|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000251376.3_Missense_Mutation_p.V182M|LILRB1_ENST00000448689.1_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.V170M|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.V182M(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		CATCTTCTCCGTGGGCCCCGT	0.562													A	55086389	G	A	55086389	3	1	478	1	0	0	0	0	1	0	0	0	8845	1145	40	1	558	1	LILRA2	19	55086389	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	1433834	55086389	4042594	28	44732											
GGA1	26088	broad.mit.edu	37	chr22	38014515	38014515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacgaagtgggcaagttcCgctttctcaacgagctcatc	10	9	10	12	4	2	0	2	0	1	0	5	3	3	0	1	1	2	4	1	1	3	2			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:38014515C>T	ENST00000406772.1	+	5	698	c.46C>T	c.(46-48)Cgc>Tgc	p.R16C	GGA1_ENST00000343632.4_Missense_Mutation_p.R89C|GGA1_ENST00000381756.5_Missense_Mutation_p.R106C|GGA1_ENST00000325180.8_Missense_Mutation_p.R89C|GGA1_ENST00000337437.4_Intron|GGA1_ENST00000405147.3_Missense_Mutation_p.R89C	NM_001172688.1	NP_001166159.1	Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	89					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GGGCAAGTTCCGCTTTCTCAA	0.617													T	38014515	C	T	38014515	3	4	478	1	0	0	0	0	1	0	0	0	6408	652	23	1	345	1	GGA1	22	38014515	Missense_Mutation	SNP	C	TCGA-FG-7634-01A-11D-2086-08		38014515	13290051	29	44733											
CELSR1	9620	broad.mit.edu	37	chr22	46790148	46790148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaccagcctctggggcacGgaaggtcgagtctgtgggga	7	6	16	12	2	2	0	0	0	2	0	3	3	2	2	3	6	1	1	3	6	1	0			TCGA-FG-7634-01A-11D-2086-08	TCGA-FG-7634-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc668076-5204-4c1b-8591-9ad354c15a6d	a5d74526-2420-4363-859f-becb06afe263	g.chr22:46790148G>A	ENST00000262738.3	-	14	5854	c.5855C>T	c.(5854-5856)cCg>cTg	p.P1952L		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1952	EGF-like 7; calcium-binding.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		TCTGGGGCACGGAAGGTCGAG	0.562													A	46790148	G	A	46790148	3	1	478	1	0	0	0	0	1	0	0	0	3251	1116	39	1	3277	1	CELSR1	22	46790148	Missense_Mutation	SNP	G	TCGA-FG-7634-01A-11D-2086-08	8775633	46790148	4514418	30	44734											
PLEKHN1	84069	broad.mit.edu	37	chr1	907741	907741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggctgctgtgccttcgCgctgtcacccacagggaggg	5	8	14	14	2	1	0	1	0	0	0	2	1	1	1	2	3	2	3	2	3	0	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:907741C>T	ENST00000379409.2	+	9	1125	c.1095C>T	c.(1093-1095)cgC>cgT	p.R365R	PLEKHN1_ENST00000379410.3_Silent_p.R313R|PLEKHN1_ENST00000379407.3_Silent_p.R325R			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	365	PH 2.									central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		TGTGCCTTCGCGCTGTCACCC	0.677													T	907741	C	T	907741	2	4	479	1	0	0	0	0	0	0	0	1	12160	755	27	1		1	PLEKHN1	1	907741	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08		907741	248342880	1	44735											
PKLR	5313	broad.mit.edu	37	chr1	155261708	155261708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcccgaggtcggtacCgagacagaagctgggctgag	8	6	16	11	3	0	3	0	1	0	2	1	5	0	3	2	3	4	4	2	3	2	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:155261708C>T	ENST00000392414.3	-	10	1477	c.1364G>A	c.(1363-1365)cGg>cAg	p.R455Q	PKLR_ENST00000342741.4_Missense_Mutation_p.R486Q	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	486					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	AGGTCGGTACCGAGACAGAAG	0.577													T	155261708	C	T	155261708	3	4	479	1	0	0	0	0	1	0	0	0	12053	652	23	1	275	1	PKLR	1	155261708	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	154353967	155261708	93988913	2	44736											
IGSF8	93185	broad.mit.edu	37	chr1	160064985	160064985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacagctgtgccagccacgCggtacaagggcccctcgggg	8	4	15	14	3	0	1	0	0	0	1	1	1	0	1	4	4	4	2	4	4	2	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:160064985C>T	ENST00000368086.1	-	2	332	c.116G>A	c.(115-117)cGc>cAc	p.R39H	IGSF8_ENST00000460351.1_5'UTR|IGSF8_ENST00000314485.7_Missense_Mutation_p.R39H			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	39	Ig-like C2-type 1.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding	p.R39L(2)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			GCCAGCCACGCGGTACAAGGG	0.617													T	160064985	C	T	160064985	3	4	479	1	0	0	0	0	1	0	0	0	7662	768	27	1	1745	1	IGSF8	1	160064985	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	4803277	160064985	89185636	3	44737											
ADCY10	55811	broad.mit.edu	37	chr1	167870982	167870982	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggctacatttaattacCactgtgataatgtttttcag	11	16	6	8	0	1	1	1	1	0	0	2	1	2	1	2	1	2	2	2	1	4	7			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:167870982C>T	ENST00000367848.1	-	5	575	c.78G>A	c.(76-78)gtG>gtA	p.V26V	ADCY10_ENST00000367851.4_Silent_p.V118V|ADCY10_ENST00000545172.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	118					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATTTAATTACCACTGTGATAA	0.498													T	167870982	C	T	167870982	2	4	479	1	0	0	0	0	0	0	0	1	293	581	21	2		2	ADCY10	1	167870982	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08	7805997	167870982	81379639	4	44738											
CACNA1S	779	broad.mit.edu	37	chr1	201046152	201046152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagctgcatgcccaggaGggcgaagatgacgatgaaga	15	4	15	7	2	0	5	0	2	0	3	0	8	0	6	1	2	3	2	1	2	3	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:201046152G>A	ENST00000362061.3	-	12	1949	c.1723C>T	c.(1723-1725)Ctc>Ttc	p.L575F	CACNA1S_ENST00000367338.3_Missense_Mutation_p.L575F	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	575					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	ATGCCCAGGAGGGCGAAGATG	0.567													A	201046152	G	A	201046152	3	1	479	1	0	0	0	0	1	0	0	0	2573	1000	35	2	4030	2	CACNA1S	1	201046152	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	33175170	201046152	48204469	5	44739											
CENPF	1063	broad.mit.edu	37	chr1	214803886	214803886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtttttcaggagctctccCgtcaacagcgttctttccaa	7	15	7	12	2	4	0	2	0	2	0	6	1	5	1	2	1	3	3	2	1	2	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:214803886C>T	ENST00000366955.3	+	9	1372	c.1204C>T	c.(1204-1206)Cgt>Tgt	p.R402C		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	402	Interaction with SNAP25 and required for localization to the cytoplasm (By similarity).				cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding	p.R402S(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		GGAGCTCTCCCGTCAACAGCG	0.537													T	214803886	C	T	214803886	3	4	479	1	0	0	0	0	1	0	0	0	3261	652	23	1	1234	1	CENPF	1	214803886	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	13757734	214803886	34446735	6	44740											
WDR26	80232	broad.mit.edu	37	chr1	224621758	224621760	+	In_Frame_Del	DEL	CCG	CCG	-																															cgccgccccctcctcctccaCcgccgccgccgccacctcct																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:224621758_224621760delCCG	ENST00000414423.2	-	1	241_243	c.48_50delCGG	c.(46-51)ggcggt>ggt	p.16_17GG>G	WDR26_ENST00000295024.6_5'UTR|WDR26_ENST00000366852.2_In_Frame_Del_p.16_17GG>G	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	16						cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		tcctcctccaccgccgccgccgc	0.729													-	224621760	CCG	-	224621758	7	5	479	1	0	1	0	1	0	0	0	0	17385	507	18	0	1991	0	WDR26	1	224621758	In_Frame_Del	DEL	CCG	TCGA-FG-7636-01A-11D-2086-08	9817872	224621758	24628863	7	44741											
OR2M3	127062	broad.mit.edu	37	chr1	248366731	248366731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggctgttatggcttatgAccgctacactgccatttgcc	6	15	9	11	1	0	1	0	1	0	0	0	1	0	1	3	2	3	4	3	2	3	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr1:248366731A>G	ENST00000456743.1	+	1	400	c.362A>G	c.(361-363)gAc>gGc	p.D121G		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	121					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATGGCTTATGACCGCTACACT	0.463													G	248366731	A	G	248366731	3	3	479	1	0	0	0	0	1	0	0	0	11087	275	10	3	364	3	OR2M3	1	248366731	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	23744973	248366731	883890	8	44742											
LRP1B	53353	broad.mit.edu	37	chr2	141739804	141739804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgctctgggaatgcaacGcccatttccgcaagaaaact	12	8	8	13	2	1	1	0	0	1	1	2	2	2	2	3	1	4	3	3	1	5	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:141739804G>A	ENST00000389484.3	-	18	3783	c.2812C>T	c.(2812-2814)Cgt>Tgt	p.R938C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	938	LDL-receptor class A 5.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GGAATGCAACGCCCATTTCCG	0.423										TSP Lung(27;0.18)			A	141739804	G	A	141739804	3	1	479	1	0	0	0	0	1	0	0	0	9025	1087	38	1	11283	1	LRP1B	2	141739804	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		141739804	101459569	9	44743											
ACVR2A	92	broad.mit.edu	37	chr2	148653873	148653873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttattatcttataggtgCtatacttggtagatcagaaa	12	18	7	4	0	2	2	1	0	1	2	2	2	2	2	0	2	2	2	0	2	8	10			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:148653873C>T	ENST00000241416.7	+	2	695	c.59C>T	c.(58-60)gCt>gTt	p.A20V	ACVR2A_ENST00000404590.1_Missense_Mutation_p.A20V|ACVR2A_ENST00000535787.1_Intron	NM_001278579.1|NM_001278580.1|NM_001616.3	NP_001265508.1|NP_001265509.1|NP_001607.1	P27037	AVR2A_HUMAN	activin A receptor, type IIA	20					activin receptor signaling pathway|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of erythrocyte differentiation|positive regulation of osteoblast differentiation|positive regulation of protein phosphorylation	cytoplasm|inhibin-betaglycan-ActRII complex|integral to plasma membrane	ATP binding|coreceptor activity|inhibin beta-A binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(5)|large_intestine(14)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(8)	45				BRCA - Breast invasive adenocarcinoma(221;0.0969)		CTTATAGGTGCTATACTTGGT	0.333													T	148653873	C	T	148653873	3	4	479	1	0	0	0	0	1	0	0	0	223	797	28	2	65	2	ACVR2A	2	148653873	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	6914069	148653873	94545500	10	44744											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	479	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	60459239	209113112	34086261	11	44745											
KLHL30	377007	broad.mit.edu	37	chr2	239050040	239050040	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcccgggccgcccacctGcccgagctgctcagcctagt	5	5	12	19	3	1	0	1	0	0	0	1	1	1	0	6	2	4	2	6	2	1	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr2:239050040G>A	ENST00000409223.1	+	2	752	c.645G>A	c.(643-645)ctG>ctA	p.L215L	KLHL30_ENST00000305959.4_Silent_p.L197L			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	215	BACK.									lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CCGCCCACCTGCCCGAGCTGC	0.706													A	239050040	G	A	239050040	2	1	479	1	0	0	0	0	0	0	0	1	8442	1306	46	2		2	KLHL30	2	239050040	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08	29936928	239050040	4149333	12	44746											
SMARCC1	6599	broad.mit.edu	37	chr3	47719787	47719787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgtgtcaatcataaaatttCgatatgccaagtatctaaaa	17	12	5	7	2	3	0	2	0	1	0	4	1	3	0	1	0	1	1	1	0	8	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:47719787C>T	ENST00000254480.5	-	16	1591	c.1472G>A	c.(1471-1473)cGa>cAa	p.R491Q	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	491	SWIRM.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CATAAAATTTCGATATGCCAA	0.388													T	47719787	C	T	47719787	3	4	479	1	0	0	0	0	1	0	0	0	14869	884	31	1	1897	1	SMARCC1	3	47719787	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		47719787	150302643	13	44747											
KNG1	3827	broad.mit.edu	37	chr3	186450325	186450325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccacctaccaagatttgCgtgggctgccccagagatat	11	8	9	13	1	0	2	0	0	0	2	0	3	0	2	5	1	4	1	5	1	4	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr3:186450325C>T	ENST00000265023.4	+	7	1004	c.792C>T	c.(790-792)tgC>tgT	p.C264C	KNG1_ENST00000447445.1_Silent_p.C228C|RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000287611.2_Silent_p.C264C	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	264	Cystatin 3.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	CCAAGATTTGCGTGGGCTGCC	0.488													T	186450325	C	T	186450325	2	4	479	1	0	0	0	0	0	0	0	1	8485	776	27	1		1	KNG1	3	186450325	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08	138730538	186450325	11572105	14	44748											
ZBTB49	166793	broad.mit.edu	37	chr4	4304568	4304568	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagatgatggtttgacaaaGaggttggaatctgctagtaa	13	12	12	4	0	2	4	1	2	1	2	2	5	2	5	0	3	1	4	0	3	4	4			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:4304568G>A	ENST00000337872.4	+	3	1126	c.1005G>A	c.(1003-1005)aaG>aaA	p.K335K	ZBTB49_ENST00000538529.1_5'UTR|ZBTB49_ENST00000355834.3_Silent_p.K335K	NM_145291.3	NP_660334.3	Q6ZSB9	ZBT49_HUMAN	zinc finger and BTB domain containing 49	335					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	28						GTTTGACAAAGAGGTTGGAAT	0.398													A	4304568	G	A	4304568	2	1	479	1	0	0	0	0	0	0	0	1	17651	933	33	2		2	ZBTB49	4	4304568	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08		4304568	186849708	15	44749											
GUF1	60558	broad.mit.edu	37	chr4	44693681	44693681	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttcttccttccctttttAggctcgaagagcagttcaga	8	16	7	10	1	2	2	1	0	1	2	5	3	4	2	2	1	1	3	2	1	2	8			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:44693681A>G	ENST00000281543.5	+	13	1673		c.e13-1		GUF1_ENST00000506793.1_Splice_Site	NM_021927.2	NP_068746.2	Q8N442	GUF1_HUMAN	GUF1 GTPase homolog (S. cerevisiae)						translation	mitochondrial inner membrane	GTP binding|GTPase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	19						TTCCCTTTTTAGGCTCGAAGA	0.299													G	44693681	A	G	44693681	5	3	479	1	0	0	0	0	0	0	1	0	6954	434	15	3	1528	3	GUF1	4	44693681	Splice_Site	SNP	A	TCGA-FG-7636-01A-11D-2086-08	40389113	44693681	146460595	16	44750											
AREG	374	broad.mit.edu	37	chr4	75312475	75312475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgaaccacaaatacctggcTatattgtcgatgattcagtc	13	11	7	10	2	1	1	1	1	0	0	3	3	1	1	2	1	2	1	2	1	5	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:75312475T>C	ENST00000395748.3	+	2	498	c.286T>C	c.(286-288)Tat>Cat	p.Y96H	AREG_ENST00000264487.2_Missense_Mutation_p.Y96H|AREG_ENST00000502307.1_Missense_Mutation_p.Y96H	NM_001657.2	NP_001648.1	P15514	AREG_HUMAN	amphiregulin	96					cell proliferation|cell-cell signaling|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|positive regulation of DNA replication	cell surface|extracellular space|integral to membrane	cytokine activity|growth factor activity			lung(4)	4			Lung(101;0.196)			AATACCTGGCTATATTGTCGA	0.443													C	75312475	T	C	75312475	3	2	479	1	0	0	0	0	1	0	0	0	846	1522	53	3	292	3	AREG	4	75312475	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	30618794	75312475	115841801	17	44751											
SLC10A6	345274	broad.mit.edu	37	chr4	87770048	87770048	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatgagcccaaactggCagagcagtcccacagcaatg	14	4	11	12	0	0	2	0	1	0	1	1	2	1	2	2	2	4	4	2	2	3	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:87770048C>T	ENST00000273905.6	-	1	368	c.221G>A	c.(220-222)tGc>tAc	p.C74Y	SLC10A6_ENST00000505535.1_5'UTR	NM_197965.2	NP_932069.1	Q3KNW5	SOAT_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 6	74						integral to membrane|plasma membrane	bile acid:sodium symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	9		Acute lymphoblastic leukemia(40;0.244)|all_hematologic(202;0.248)		OV - Ovarian serous cystadenocarcinoma(123;0.00099)		CCCAAACTGGCAGAGCAGTCC	0.542													T	87770048	C	T	87770048	3	4	479	1	0	0	0	0	1	0	0	0	14472	710	25	2	936	2	SLC10A6	4	87770048	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	12457573	87770048	103384228	18	44752											
FHDC1	85462	broad.mit.edu	37	chr4	153897446	153897446	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagcctgaggaaaataaGacctgccgcgcccactccga	13	4	10	14	3	0	3	0	1	0	2	1	5	1	4	5	1	2	0	5	1	4	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:153897446G>C	ENST00000511601.1	+	12	3191	c.3003G>C	c.(3001-3003)aaG>aaC	p.K1001N	FHDC1_ENST00000260008.3_Missense_Mutation_p.K1001N			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1001					actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					AGGAAAATAAGACCTGCCGCG	0.632													C	153897446	G	C	153897446	3	2	479	1	0	0	0	0	1	0	0	0	5925	933	33	4	3045	4	FHDC1	4	153897446	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	66127398	153897446	37256830	19	44753											
NPY1R	4886	broad.mit.edu	37	chr4	164246852	164246852	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttggtttcactggacctgTacttattgtctctcatcttg	5	20	7	9	0	4	0	2	0	2	0	5	1	4	1	1	2	1	2	1	2	2	7			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr4:164246852T>C	ENST00000296533.2	-	3	1289	c.758A>G	c.(757-759)tAc>tGc	p.Y253C	NPY1R_ENST00000509586.1_Missense_Mutation_p.Y10C	NM_000909.5	NP_000900.1	P25929	NPY1R_HUMAN	neuropeptide Y receptor Y1	253					inhibition of adenylate cyclase activity by G-protein signaling pathway|outflow tract morphogenesis	integral to plasma membrane	protein binding			breast(1)|cervix(1)|large_intestine(4)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)	30	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				ACTGGACCTGTACTTATTGTC	0.368													C	164246852	T	C	164246852	3	2	479	1	0	0	0	0	1	0	0	0	10684	1638	57	3	400	3	NPY1R	4	164246852	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	10349406	164246852	26907424	20	44754											
FAM169A	26049	broad.mit.edu	37	chr5	74130350	74130350	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatgggatctcatttcTctccatttcctgttttctat	7	18	6	10	0	3	0	1	0	3	0	7	2	5	2	2	2	0	1	2	2	2	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:74130350T>G	ENST00000389156.4	-	5	481	c.391A>C	c.(391-393)Aga>Cga	p.R131R	FAM169A_ENST00000510496.1_Silent_p.R131R|FAM169A_ENST00000380515.3_Intron	NM_015566.2	NP_056381.1	Q9Y6X4	F169A_HUMAN	family with sequence similarity 169, member A	131										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	27						ATCTCATTTCTCTCCATTTCC	0.418													G	74130350	T	G	74130350	2	3	479	1	0	0	0	0	0	0	0	1	5532	1559	54	5		5	FAM169A	5	74130350	Silent	SNP	T	TCGA-FG-7636-01A-11D-2086-08		74130350	106784910	21	44755											
PCDHA7	56141	broad.mit.edu	37	chr5	140214183	140214183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggtgtgcaaattccgtgGggatcttctggaggtaaatc	8	11	15	7	2	2	0	0	0	2	0	4	2	3	2	1	6	1	2	1	6	3	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr5:140214183G>A	ENST00000525929.1	+	1	215	c.215G>A	c.(214-216)gGg>gAg	p.G72E	PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.G72E|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATTCCGTGGGGATCTTCTG	0.617													A	140214183	G	A	140214183	3	1	479	1	0	0	0	0	1	0	0	0	11605	1232	43	2	217	2	PCDHA7	5	140214183	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	66083833	140214183	40701077	22	44756											
VARS	7407	broad.mit.edu	37	chr6	31747885	31747885	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcctcacagcctctgtcaGgcggctgcggatccagcggt	6	7	14	14	3	3	0	2	0	1	0	4	2	4	1	3	4	4	1	3	4	0	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:31747885G>A	ENST00000375663.3	-	26	3411	c.2971C>T	c.(2971-2973)Ctg>Ttg	p.L991L		NM_006295.2	NP_006286.1	P26640	SYVC_HUMAN	valyl-tRNA synthetase	991					translational elongation|valyl-tRNA aminoacylation	cytosol	ATP binding|protein binding|valine-tRNA ligase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(18)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	30					L-Valine(DB00161)	GCCTCTGTCAGGCGGCTGCGG	0.647													A	31747885	G	A	31747885	2	1	479	1	0	0	0	0	0	0	0	1	17225	991	35	2		2	VARS	6	31747885	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08		31747885	139367182	23	44757											
NOTCH4	4855	broad.mit.edu	37	chr6	32188018	32188018	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcattgggcatccccatgGcacggctggctcagacacat	8	8	11	14	1	1	1	1	0	0	1	2	1	2	1	2	4	1	5	2	4	0	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:32188018G>T	ENST00000375023.3	-	7	1341	c.1203C>A	c.(1201-1203)tgC>tgA	p.C401*		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	401	EGF-like 10.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATCCCCATGGCACGGCTGGC	0.622													T	32188018	G	T	32188018	4	4	479	1	0	0	0	0	0	1	0	0	10627	1195	42	4	4904	4	NOTCH4	6	32188018	Nonsense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	440133	32188018	138927049	24	44758											
PKHD1	5314	broad.mit.edu	37	chr6	51799071	51799071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagaaacaaggatggcGtgtgccctgagctcgatggg	10	7	14	10	2	1	2	1	1	0	1	2	4	1	3	2	3	3	1	2	3	2	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:51799071G>A	ENST00000371117.3	-	37	6233	c.5958C>T	c.(5956-5958)caC>caT	p.H1986H	PKHD1_ENST00000340994.4_Silent_p.H1986H	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1986	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CAAGGATGGCGTGTGCCCTGA	0.537											OREG0017491	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	51799071	G	A	51799071	2	1	479	1	0	0	0	0	0	0	0	1	12048	1136	40	1		1	PKHD1	6	51799071	Silent	SNP	G	TCGA-FG-7636-01A-11D-2086-08	19611053	51799071	119315996	25	44759											
NCOA7	135112	broad.mit.edu	37	chr6	126210341	126210341	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggactcctctagggagacaTcccatggttctcccacagtg	8	10	10	13	0	2	1	0	0	2	1	5	3	4	2	3	3	0	1	3	3	1	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:126210341T>C	ENST00000368357.3	+	10	1493	c.1141T>C	c.(1141-1143)Tcc>Ccc	p.S381P	NCOA7_ENST00000229634.9_Missense_Mutation_p.S266P|NCOA7_ENST00000392477.2_Missense_Mutation_p.S381P	NM_001199619.1|NM_001199620.1	NP_001186548.1|NP_001186549.1	Q8NI08	NCOA7_HUMAN	nuclear receptor coactivator 7	381					cell wall macromolecule catabolic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(1)|urinary_tract(2)	39				UCEC - Uterine corpus endometrioid carcinoma (4;0.0803)|GBM - Glioblastoma multiforme(226;0.0193)|all cancers(137;0.237)		TAGGGAGACATCCCATGGTTC	0.458													C	126210341	T	C	126210341	3	2	479	1	0	0	0	0	1	0	0	0	10310	1435	50	3	1171	3	NCOA7	6	126210341	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	74411270	126210341	44904726	26	44760											
TIAM2	26230	broad.mit.edu	37	chr6	155458449	155458449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtctcagagaagtgaaTccacacatgcgattggcagc	11	9	10	11	1	1	2	1	1	1	1	4	4	3	2	2	1	2	1	2	1	2	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr6:155458449T>C	ENST00000461783.3	+	7	2606	c.1333T>C	c.(1333-1335)Tcc>Ccc	p.S445P	TIAM2_ENST00000456144.1_Missense_Mutation_p.S445P|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000360366.4_Missense_Mutation_p.S445P|TIAM2_ENST00000318981.5_Missense_Mutation_p.S445P|TIAM2_ENST00000529824.2_Missense_Mutation_p.S445P			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	445					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GAGAAGTGAATCCACACATGC	0.498													C	155458449	T	C	155458449	3	2	479	1	0	0	0	0	1	0	0	0	15991	1435	50	3	1339	3	TIAM2	6	155458449	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	29248108	155458449	15656618	27	44761											
NRCAM	4897	broad.mit.edu	37	chr7	107823139	107823139	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taggaaatggcatcacttacGgtcttctccagaatgtccca	11	11	8	11	1	3	1	1	0	2	1	5	2	4	2	2	3	1	1	2	3	4	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:107823139G>A	ENST00000379028.3	-	23	3000	c.2530C>T	c.(2530-2532)Ctc>Ttc	p.L844F	NRCAM_ENST00000379024.4_Splice_Site_p.L825F|NRCAM_ENST00000351718.4_Splice_Site_p.L828F|NRCAM_ENST00000413765.2_Splice_Site_p.L825F|NRCAM_ENST00000379022.4_Splice_Site_p.L844F|NRCAM_ENST00000425651.2_Splice_Site_p.L844F			Q92823	NRCAM_HUMAN	neuronal cell adhesion molecule	844					angiogenesis|axon guidance|axonal fasciculation|cell-cell adhesion|central nervous system development|clustering of voltage-gated sodium channels|neuron migration|positive regulation of neuron differentiation|regulation of axon extension|synapse assembly	external side of plasma membrane|integral to plasma membrane	ankyrin binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(1)|lung(36)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	65						CATCACTTACGGTCTTCTCCA	0.522													A	107823139	G	A	107823139	5	1	479	1	0	0	0	0	0	0	1	0	10720	1130	39	1	1458	1	NRCAM	7	107823139	Splice_Site	SNP	G	TCGA-FG-7636-01A-11D-2086-08		107823139	51315524	28	44762											
CCDC136	64753	broad.mit.edu	37	chr7	128432468	128432468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctggaacgacgggggatGcaagctatggagggtgagtt	9	8	17	7	2	0	1	0	1	0	0	1	5	1	4	1	5	3	3	1	5	3	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr7:128432468G>A	ENST00000464832.1	+	2	197	c.153G>A	c.(151-153)atG>atA	p.M51I	CCDC136_ENST00000378685.4_Missense_Mutation_p.M51I|CCDC136_ENST00000297788.4_Start_Codon_SNP_p.M1I|CCDC136_ENST00000487361.1_Start_Codon_SNP_p.M1I			Q96JN2	CC136_HUMAN	coiled-coil domain containing 136	1	Glu-rich.					integral to membrane	protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)	24						GACGGGGGATGCAAGCTATGG	0.582													A	128432468	G	A	128432468	3	1	479	1	0	0	0	0	1	0	0	0	2796	1319	46	2	5	2	CCDC136	7	128432468	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	20609329	128432468	30706195	29	44763											
TET1	80312	broad.mit.edu	37	chr10	70451205	70451205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccatcgcacctgctcaCggctcggttttgattgagtg	5	12	13	11	3	1	2	1	2	0	0	3	2	1	2	2	3	1	4	2	3	0	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr10:70451205C>T	ENST00000373644.4	+	12	6254	c.6045C>T	c.(6043-6045)caC>caT	p.H2015H		NM_030625.2	NP_085128.2	Q8NFU7	TET1_HUMAN	tet methylcytosine dioxygenase 1	2015					DNA demethylation|inner cell mass cell differentiation|negative regulation of methylation-dependent chromatin silencing|stem cell maintenance		iron ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|structure-specific DNA binding|zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(2)|ovary(5)|prostate(1)|upper_aerodigestive_tract(2)	21						CACCTGCTCACGGCTCGGTTT	0.532													T	70451205	C	T	70451205	2	4	479	1	0	0	0	0	0	0	0	1	15869	535	19	1		1	TET1	10	70451205	Silent	SNP	C	TCGA-FG-7636-01A-11D-2086-08		70451205	65083542	30	44764											
MUC2	4583	broad.mit.edu	37	chr11	1086051	1086051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtggtggagtccagcaCgggcatcatcgtcatctggg	6	9	15	11	2	3	0	2	0	1	0	5	1	4	1	2	5	1	2	2	5	0	0	rs72655318		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:1086051C>T	ENST00000441003.2	+	22	2918	c.2891C>T	c.(2890-2892)aCg>aTg	p.T964M	MUC2_ENST00000359061.5_Missense_Mutation_p.T964M	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	964	VWFD 3.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GAGTCCAGCACGGGCATCATC	0.632													T	1086051	C	T	1086051	3	4	479	1	0	0	0	0	1	0	0	0	10051	536	19	1	2977	1	MUC2	11	1086051	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		1086051	133920465	31	44765											
ZNF143	7702	broad.mit.edu	37	chr11	9499964	9499964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagagtgcattacaggCggttcagctggaagatggta	11	9	14	7	1	1	3	1	1	0	2	1	4	1	4	1	4	3	4	1	4	3	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:9499964C>T	ENST00000396602.2	+	6	520	c.401C>T	c.(400-402)gCg>gTg	p.A134V	ZNF143_ENST00000396597.3_Missense_Mutation_p.A103V|ZNF143_ENST00000396604.1_Missense_Mutation_p.A133V|ZNF143_ENST00000530463.1_Missense_Mutation_p.A133V|ZNF143_ENST00000299606.2_Missense_Mutation_p.A106V	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	134					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GCATTACAGGCGGTTCAGCTG	0.433													T	9499964	C	T	9499964	3	4	479	1	0	0	0	0	1	0	0	0	17833	768	27	1	419	1	ZNF143	11	9499964	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	8413913	9499964	125506552	32	44766											
AGBL2	79841	broad.mit.edu	37	chr11	47726176	47726176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctcttggtagacaaaaTggaaaagagctcttggggtt	11	11	13	6	0	2	2	0	0	2	2	2	3	2	3	1	5	1	3	1	5	5	4			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:47726176T>C	ENST00000525123.1	-	7	790	c.505A>G	c.(505-507)Att>Gtt	p.I169V	AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000298861.4_Missense_Mutation_p.I169V|AGBL2_ENST00000528244.1_Missense_Mutation_p.I131V|AGBL2_ENST00000357610.3_Missense_Mutation_p.I169V	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	169					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						GTAGACAAAATGGAAAAGAGC	0.428													C	47726176	T	C	47726176	3	2	479	1	0	0	0	0	1	0	0	0	376	1464	51	3	2255	3	AGBL2	11	47726176	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	38226212	47726176	87280340	33	44767											
VPS37C	55048	broad.mit.edu	37	chr11	60899568	60899569	+	Frame_Shift_Del	DEL	CC	CC	-																															cccggccggggtggcatgctCctctgtggggaccaggagta																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:60899568_60899569delCC	ENST00000301765.5	-	5	1023_1024	c.791_792delGG	c.(790-792)aggfs	p.R264fs		NM_017966.4	NP_060436.4	A5D8V6	VP37C_HUMAN	vacuolar protein sorting 37 homolog C (S. cerevisiae)	264	Pro-rich.				cellular membrane organization|endosome transport|protein transport	late endosome membrane				breast(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7						GTGGCATGCTCCTCTGTGGGGA	0.693													-	60899569	CC	-	60899568	7	5	479	1	0	1	0	1	0	0	0	0	17309	854	30	0	279	0	VPS37C	11	60899568	Frame_Shift_Del	DEL	CC	TCGA-FG-7636-01A-11D-2086-08	13173392	60899568	74106948	34	44768											
RTN3	10313	broad.mit.edu	37	chr11	63487064	63487064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcatcacaaaaactacaGgacttgacatgagtgaatat	17	9	7	8	0	1	3	1	3	0	0	1	4	1	4	0	1	3	1	0	1	5	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:63487064G>A	ENST00000377819.5	+	3	1244	c.1090G>A	c.(1090-1092)Gga>Aga	p.G364R	RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000540798.1_Missense_Mutation_p.G252R|RTN3_ENST00000339997.4_Missense_Mutation_p.G345R	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	364					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						AAAAACTACAGGACTTGACAT	0.373													A	63487064	G	A	63487064	3	1	479	1	0	0	0	0	1	0	0	0	13818	1001	35	2	1100	2	RTN3	11	63487064	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	2587496	63487064	71519452	35	44769											
RNF121	55298	broad.mit.edu	37	chr11	71671806	71671806	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggctttcagggtcgagcacGcacgcatgcatgccaagcac	9	7	12	13	3	1	0	1	0	0	0	2	1	1	0	1	2	4	6	1	2	1	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:71671806G>A	ENST00000361756.3	+	3	473	c.112G>A	c.(112-114)Gca>Aca	p.A38T	RNF121_ENST00000533380.1_Missense_Mutation_p.A6T|RNF121_ENST00000545854.1_5'UTR|RNF121_ENST00000490867.1_3'UTR|RNF121_ENST00000393713.3_Missense_Mutation_p.A6T|RNF121_ENST00000530137.1_Missense_Mutation_p.A6T	NM_018320.4	NP_060790.2	Q9H920	RN121_HUMAN	ring finger protein 121	38						integral to membrane	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|urinary_tract(1)	13						GGTCGAGCACGCACGCATGCA	0.542													A	71671806	G	A	71671806	3	1	479	1	0	0	0	0	1	0	0	0	13522	1087	38	1	122	1	RNF121	11	71671806	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	8184742	71671806	63334710	36	44770											
BIRC2	329	broad.mit.edu	37	chr11	102221141	102221141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcaatgagtactgaagaaGccagatttcttacctaccat	14	11	7	9	0	1	4	0	2	1	2	1	4	1	4	3	0	5	2	3	0	6	4			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:102221141G>A	ENST00000227758.2	+	2	1955	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	BIRC2_ENST00000527910.1_3'UTR|BIRC2_ENST00000530675.1_Missense_Mutation_p.A137T|BIRC2_ENST00000532672.1_Missense_Mutation_p.A165T	NM_001166.4|NM_001256163.1	NP_001157.1|NP_001243092.1	Q13490	BIRC2_HUMAN	baculoviral IAP repeat containing 2	186					cell surface receptor linked signaling pathway|cellular component disassembly involved in apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	CD40 receptor complex|cytosol|internal side of plasma membrane	protein N-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|Epithelial(9;0.11)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0144)		TACTGAAGAAGCCAGATTTCT	0.413													A	102221141	G	A	102221141	3	1	479	1	0	0	0	0	1	0	0	0	1441	971	34	2	558	2	BIRC2	11	102221141	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	30549335	102221141	32785375	37	44771											
IL18	3606	broad.mit.edu	37	chr11	112025712	112025712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttacctataaagtaaagcGtattgtcaataaatttcatt	15	15	4	7	1	2	0	2	0	0	0	2	0	2	0	2	0	2	2	2	0	10	9	rs61734549	by1000genomes	TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr11:112025712G>A	ENST00000280357.7	-	2	284	c.65C>T	c.(64-66)aCg>aTg	p.T22M	IL18_ENST00000524595.1_Missense_Mutation_p.T22M|IL18_ENST00000533858.1_5'UTR|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.T22M	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	22					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		AAAGTAAAGCGTATTGTCAAT	0.343													A	112025712	G	A	112025712	3	1	479	1	0	0	0	0	1	0	0	0	7703	1145	40	1	536	1	IL18	11	112025712	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	9804571	112025712	22980804	38	44772											
CAPZA3	93661	broad.mit.edu	37	chr12	18891209	18891209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcaaccaaacatgacaCttagcgtgctgagcaggaag	13	8	11	9	1	0	2	0	2	0	0	0	3	0	3	1	1	6	4	1	1	4	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:18891209C>T	ENST00000317658.3	+	1	165	c.7C>T	c.(7-9)Ctt>Ttt	p.L3F		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	p.L3V(1)		breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				AAACATGACACTTAGCGTGCT	0.438													T	18891209	C	T	18891209	3	4	479	1	0	0	0	0	1	0	0	0	2668	565	20	2	9	2	CAPZA3	12	18891209	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		18891209	114960686	39	44773											
KIF21A	55605	broad.mit.edu	37	chr12	39763607	39763607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtgttttttttcttcaAtactcttaaaaaggtgttta	10	21	5	5	0	3	0	1	0	2	0	3	0	3	0	0	1	1	2	0	1	7	10			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763607A>G	ENST00000395670.3	-	3	793	c.374T>C	c.(373-375)aTt>aCt	p.I125T	KIF21A_ENST00000361961.3_Missense_Mutation_p.I125T|KIF21A_ENST00000544797.2_Missense_Mutation_p.I125T|KIF21A_ENST00000361418.5_Missense_Mutation_p.I125T|KIF21A_ENST00000541463.2_Missense_Mutation_p.I125T			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	125	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				TTTTTCTTCAATACTCTTAAA	0.338													G	39763607	A	G	39763607	3	3	479	1	0	0	0	0	1	0	0	0	8346	101	4	3	4794	3	KIF21A	12	39763607	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	20872398	39763607	94088288	40	44774			1	62		2	2	22	A		4.20578e-05
KIF21A	55605	broad.mit.edu	37	chr12	39763628	39763628	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactcttaaaaaggtgtttaAcagctcgagaaataataccc	16	11	6	8	1	1	1	0	0	1	1	2	2	1	1	1	1	4	2	1	1	8	6			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr12:39763628A>C	ENST00000395670.3	-	3	772	c.353T>G	c.(352-354)gTt>gGt	p.V118G	KIF21A_ENST00000361961.3_Missense_Mutation_p.V118G|KIF21A_ENST00000544797.2_Missense_Mutation_p.V118G|KIF21A_ENST00000361418.5_Missense_Mutation_p.V118G|KIF21A_ENST00000541463.2_Missense_Mutation_p.V118G			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	118	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AAGGTGTTTAACAGCTCGAGA	0.348													C	39763628	A	C	39763628	3	2	479	1	0	0	0	0	1	0	0	0	8346	43	2	5	4815	5	KIF21A	12	39763628	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	21	39763628	94088267	41	44775			1	62		2	2	22	A		4.20578e-05
DGKH	160851	broad.mit.edu	37	chr13	42783569	42783569	+	Frame_Shift_Del	DEL	A	A	-																															ggattatcaaaattgtgcacAaaaacagagcacaaatgcta																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:42783569delA	ENST00000261491.5	+	23	2839	c.2818delA	c.(2818-2820)aaafs	p.K940fs	DGKH_ENST00000337343.4_Frame_Shift_Del_p.K940fs|DGKH_ENST00000379274.2_Frame_Shift_Del_p.K804fs|DGKH_ENST00000540693.1_Frame_Shift_Del_p.K940fs|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000536612.1_Frame_Shift_Del_p.K804fs|DGKH_ENST00000538674.1_Frame_Shift_Del_p.K695fs	NM_152910.4	NP_690874.2	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation|protein oligomerization	endosome|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		AATTGTGCACAAAAACAGAGC	0.378													-	42783569	A	-	42783569	7	5	479	1	0	1	0	1	0	0	0	0	4509	131	5	0	2908	0	DGKH	13	42783569	Frame_Shift_Del	DEL	A	TCGA-FG-7636-01A-11D-2086-08		42783569	72386309	42	44776											
SLITRK5	26050	broad.mit.edu	37	chr13	88329160	88329160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacttttgacccggtcccaaAcctccagctgctattcttga	9	12	6	14	1	1	2	0	2	1	0	3	2	3	2	4	1	4	2	4	1	3	5			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:88329160A>G	ENST00000325089.6	+	2	1736	c.1517A>G	c.(1516-1518)aAc>aGc	p.N506S	SLITRK5_ENST00000400028.3_Missense_Mutation_p.N265S	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	506						integral to membrane		p.N506I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CCGGTCCCAAACCTCCAGCTG	0.532													G	88329160	A	G	88329160	3	3	479	1	0	0	0	0	1	0	0	0	14840	43	2	3	1519	3	SLITRK5	13	88329160	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	45545591	88329160	26840718	43	44777											
ZIC5	85416	broad.mit.edu	37	chr13	100623411	100623413	+	In_Frame_Del	DEL	AGG	AGG	-																															gtggtgtagcccgagagggcAggaggaggaggaggcggggg																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr13:100623411_100623413delAGG	ENST00000267294.4	-	1	750_752	c.517_519delCCT	c.(517-519)cctdel	p.P173del		NM_033132.3	NP_149123.2	Q96T25	ZIC5_HUMAN	Zic family member 5	173	Pro-rich.				cell differentiation	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(1)|lung(2)|prostate(1)|skin(2)	9	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCGAGAGGGCaggaggaggagga	0.744													-	100623413	AGG	-	100623411	7	5	479	1	0	1	0	1	0	0	0	0	17783	175	7	0	1480	0	ZIC5	13	100623411	In_Frame_Del	DEL	AGG	TCGA-FG-7636-01A-11D-2086-08	12294251	100623411	14546467	44	44778											
BMP4	652	broad.mit.edu	37	chr14	54416985	54416985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcagtagaaggcctggtagCctggtggggccacaatccag	9	6	16	10	0	0	1	0	0	0	1	1	1	1	1	4	6	1	3	4	6	4	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:54416985C>T	ENST00000245451.4	-	4	1385	c.992G>A	c.(991-993)gGc>gAc	p.G331D	BMP4_ENST00000558984.1_Missense_Mutation_p.G331D|BMP4_ENST00000559087.1_Missense_Mutation_p.G331D|BMP4_ENST00000417573.1_Missense_Mutation_p.G331D	NM_001202.3	NP_001193.2	P12644	BMP4_HUMAN	bone morphogenetic protein 4	331					activation of MAPKK activity|blood vessel endothelial cell proliferation involved in sprouting angiogenesis|BMP signaling pathway involved in heart induction|BMP signaling pathway involved in nephric duct formation|branching involved in ureteric bud morphogenesis|bronchus development|bud dilation involved in lung branching|cardiac septum development|cartilage development|endocardial cushion development|epithelial cell proliferation involved in lung morphogenesis|intermediate mesodermal cell differentiation|lung alveolus development|lymphoid progenitor cell differentiation|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesonephros development|negative regulation of branch elongation involved in ureteric bud branching by BMP signaling pathway|negative regulation of branching involved in ureteric bud morphogenesis|negative regulation of cell proliferation involved in heart morphogenesis|negative regulation of glomerular mesangial cell proliferation|negative regulation of glomerulus development|negative regulation of immature T cell proliferation in thymus|negative regulation of MAP kinase activity|negative regulation of metanephric comma-shaped body morphogenesis|negative regulation of metanephric S-shaped body morphogenesis|negative regulation of mitosis|negative regulation of myoblast differentiation|negative regulation of phosphorylation|negative regulation of striated muscle tissue development|negative regulation of thymocyte apoptosis|negative regulation of transcription from RNA polymerase II promoter|osteoblast differentiation|positive regulation of apoptosis|positive regulation of bone mineralization|positive regulation of cardiac muscle fiber development|positive regulation of cartilage development|positive regulation of collagen biosynthetic process|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of kidney development|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|protein localization to nucleus|pulmonary artery endothelial tube morphogenesis|secondary heart field specification|SMAD protein signal transduction|specification of ureteric bud anterior/posterior symmetry by BMP signaling pathway|steroid hormone mediated signaling pathway	extracellular space|proteinaceous extracellular matrix	BMP receptor binding|chemoattractant activity|cytokine activity|growth factor activity			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(3)|urinary_tract(1)	19						GGCCTGGTAGCCTGGTGGGGC	0.572													T	54416985	C	T	54416985	3	4	479	1	0	0	0	0	1	0	0	0	1468	739	26	2	238	2	BMP4	14	54416985	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		54416985	52932555	45	44779											
CPSF2	53981	broad.mit.edu	37	chr14	92601779	92601779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taggtggaacaatatggaaaAtagtcaaagatggagaagaa	20	7	12	2	0	1	3	1	0	0	3	1	6	1	5	0	4	1	0	0	4	10	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr14:92601779A>G	ENST00000298875.4	+	6	769	c.484A>G	c.(484-486)Ata>Gta	p.I162V		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	162					histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		AATATGGAAAATAGTCAAAGA	0.388													G	92601779	A	G	92601779	3	3	479	1	0	0	0	0	1	0	0	0	3856	101	4	3	498	3	CPSF2	14	92601779	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	38184794	92601779	14747761	46	44780											
CACNA1H	8912	broad.mit.edu	37	chr16	1251754	1251754	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagtcagctgatgcgggAgcagcgggcacgccacctgt	8	5	17	11	3	1	2	1	1	0	1	1	4	1	3	2	3	4	3	2	3	0	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:1251754A>G	ENST00000348261.5	+	9	1552	c.1304A>G	c.(1303-1305)gAg>gGg	p.E435G	CACNA1H_ENST00000565831.1_Missense_Mutation_p.E435G|CACNA1H_ENST00000358590.4_Missense_Mutation_p.E435G	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	435					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CTGATGCGGGAGCAGCGGGCA	0.612													G	1251754	A	G	1251754	3	3	479	1	0	0	0	0	1	0	0	0	2571	304	11	3	1334	3	CACNA1H	16	1251754	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08		1251754	89102999	47	44781											
HPR	3250	broad.mit.edu	37	chr16	72110614	72110614	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttacgtgtctggctggggAcaaagtgacaactttaaact	11	11	12	7	1	1	1	0	1	1	0	1	2	1	2	0	4	3	2	0	4	5	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72110614A>G	ENST00000540303.2	+	5	713	c.681A>G	c.(679-681)ggA>ggG	p.G227G	HPR_ENST00000356967.5_Silent_p.G227G|HPR_ENST00000228226.8_Silent_p.G264G|HPR_ENST00000561690.1_Intron	NM_020995.3	NP_066275.3	P00739	HPTR_HUMAN	haptoglobin-related protein	227	Peptidase S1.				proteolysis	spherical high-density lipoprotein particle	hemoglobin binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|stomach(1)|urinary_tract(2)	20		Ovarian(137;0.125)				CTGGCTGGGGACAAAGTGACA	0.463													G	72110614	A	G	72110614	2	3	479	1	0	0	0	0	0	0	0	1	7392	262	10	3		3	HPR	16	72110614	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08	70858860	72110614	18244139	48	44782											
ZFHX3	463	broad.mit.edu	37	chr16	72994030	72994031	+	Frame_Shift_Ins	INS	-	-	TCACAGCC																															tccccgagacgacgggcgagINStcacagccttccatggtaag																								rs12922701		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr16:72994030_72994031insTCACAGCC	ENST00000268489.5	-	2	686_687	c.14_15insGGCTGTGA	c.(13-15)gacfs	p.D5fs	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	5					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CGACGGGCGAGTCACAGCCTTC	0.609													TCACAGCC	72994031	-	TCACAGCC	72994030	7	5	479	1	0	1	1	0	0	0	0	0	17735	1020	36	0	11132	0	ZFHX3	16	72994030	Frame_Shift_Ins	INS	-	TCGA-FG-7636-01A-11D-2086-08	883416	72994030	17360723	49	44783											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	479	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		7577121	73618089	50	44784											
MUC16	94025	broad.mit.edu	37	chr19	9057582	9057582	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttttttgggtggtgatgGtcatttgtgttgattctgac	6	19	12	4	0	2	3	1	3	1	0	2	3	2	3	0	3	1	1	0	3	1	6			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9057582G>C	ENST00000397910.4	-	3	30067	c.29864C>G	c.(29863-29865)aCc>aGc	p.T9955S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9957	Ser-rich.|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						GGTGGTGATGGTCATTTGTGT	0.498													C	9057582	G	C	9057582	3	2	479	1	0	0	0	0	1	0	0	0	10049	1261	44	4	13987	4	MUC16	19	9057582	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08		9057582	50071401	51	44785											
MUC16	94025	broad.mit.edu	37	chr19	9068570	9068570	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaaggatgcattgtgtgTgtatctgtggtggcttctga	8	15	14	4	0	2	2	0	1	2	1	2	3	2	3	0	3	1	3	0	3	3	4			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:9068570T>A	ENST00000397910.4	-	3	19079	c.18876A>T	c.(18874-18876)acA>acT	p.T6292T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6294	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						GCATTGTGTGTGTATCTGTGG	0.453													A	9068570	T	A	9068570	2	1	479	1	0	0	0	0	0	0	0	1	10049	1683	59	5		5	MUC16	19	9068570	Silent	SNP	T	TCGA-FG-7636-01A-11D-2086-08	10988	9068570	50060413	52	44786											
ANO8	57719	broad.mit.edu	37	chr19	17438523	17438523	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggccgatgctttccacgCgctggccgaagggccgctgc	5	7	14	15	5	0	0	0	0	0	0	1	2	1	0	4	3	2	3	4	3	1	1			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:17438523C>T	ENST00000159087.4	-	14	2551	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	798						chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GCTTTCCACGCGCTGGCCGAA	0.682													T	17438523	C	T	17438523	3	4	479	1	0	0	0	0	1	0	0	0	703	768	27	1	1325	1	ANO8	19	17438523	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	8369953	17438523	41690460	53	44787											
FFAR1	2864	broad.mit.edu	37	chr19	35842815	35842815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagccttccggaggccgTgctattcctggggggtgtgc	5	9	15	12	2	0	0	0	0	0	0	2	1	2	1	5	5	3	1	5	5	2	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:35842815T>C	ENST00000246553.2	+	1	371	c.361T>C	c.(361-363)Tgc>Cgc	p.C121R		NM_005303.2	NP_005294.1	O14842	FFAR1_HUMAN	free fatty acid receptor 1	121					energy reserve metabolic process|regulation of insulin secretion	integral to plasma membrane	G-protein coupled receptor activity|guanyl-nucleotide exchange factor activity|lipid binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;4.58e-20)|OV - Ovarian serous cystadenocarcinoma(14;6.67e-19)|all cancers(14;2.01e-17)|LUSC - Lung squamous cell carcinoma(66;0.0417)		Icosapent(DB00159)	CCGGAGGCCGTGCTATTCCTG	0.677													C	35842815	T	C	35842815	3	2	479	1	0	0	0	0	1	0	0	0	5876	1696	59	3	363	3	FFAR1	19	35842815	Missense_Mutation	SNP	T	TCGA-FG-7636-01A-11D-2086-08	18404292	35842815	23286168	54	44788											
GRIN2D	2906	broad.mit.edu	37	chr19	48945567	48945567	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggtcttcgcctgggagcaCctggtgtactggcgcctgcg	3	10	15	13	3	1	0	0	0	1	0	2	1	1	1	3	4	3	2	3	4	1	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:48945567C>A	ENST00000263269.3	+	12	2689	c.2601C>A	c.(2599-2601)caC>caA	p.H867Q		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	867						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CCTGGGAGCACCTGGTGTACT	0.647													A	48945567	C	A	48945567	3	1	479	1	0	0	0	0	1	0	0	0	6837	506	18	4	2643	4	GRIN2D	19	48945567	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08	13102752	48945567	10183416	55	44789											
PTPRH	5794	broad.mit.edu	37	chr19	55693430	55693430	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctctcatcttccttacaAagctgaagggcccaaggaga	11	10	8	12	0	3	2	1	1	3	1	6	3	4	2	2	2	2	1	2	2	4	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:55693430A>T	ENST00000376350.3	-	19	3174	c.3152T>A	c.(3151-3153)tTt>tAt	p.F1051Y	PTPRH_ENST00000263434.5_Missense_Mutation_p.F873Y	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1051	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CTTCCTTACAAAGCTGAAGGG	0.622													T	55693430	A	T	55693430	3	4	479	1	0	0	0	0	1	0	0	0	12891	14	1	5	203	5	PTPRH	19	55693430	Missense_Mutation	SNP	A	TCGA-FG-7636-01A-11D-2086-08	6747863	55693430	3435553	56	44790											
NLRP9	338321	broad.mit.edu	37	chr19	56244181	56244181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtacagaccaaccagcacGtaaagggattatggcacaag	17	5	10	9	1	0	1	0	0	0	1	0	2	0	2	2	2	3	4	2	2	7	3			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr19:56244181G>A	ENST00000332836.2	-	2	1043	c.1016C>T	c.(1015-1017)aCg>aTg	p.T339M		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	339	NACHT.					cytoplasm	ATP binding	p.T339M(2)		NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		CAACCAGCACGTAAAGGGATT	0.413													A	56244181	G	A	56244181	3	1	479	1	0	0	0	0	1	0	0	0	10560	1145	40	1	1991	1	NLRP9	19	56244181	Missense_Mutation	SNP	G	TCGA-FG-7636-01A-11D-2086-08	550751	56244181	2884802	57	44791											
NKAIN4	128414	broad.mit.edu	37	chr20	61881306	61881306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgacatagcgcagcCggtactggatggtgccgaag	10	6	13	12	3	0	1	0	1	0	0	0	3	0	2	4	3	4	2	4	3	3	2			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:61881306C>A	ENST00000370316.3	-	2	262	c.173G>T	c.(172-174)cGg>cTg	p.R58L	NKAIN4_ENST00000370307.2_5'UTR|NKAIN4_ENST00000370313.1_5'UTR	NM_152864.3	NP_690603.3	Q8IVV8	NKAI4_HUMAN	Na+/K+ transporting ATPase interacting 4	58						integral to membrane|plasma membrane				endometrium(2)|lung(1)|ovary(1)	4	all_cancers(38;2.72e-09)					ATAGCGCAGCCGGTACTGGAT	0.607													A	61881306	C	A	61881306	3	1	479	1	0	0	0	0	1	0	0	0	10514	652	23	4	477	4	NKAIN4	20	61881306	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		61881306	1144214	58	44792											
SRMS	6725	broad.mit.edu	37	chr20	62178604	62178604	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgtccccgcggcggacActcagctccccgccacaccg	6	4	10	21	5	1	0	1	0	0	0	3	1	3	1	7	2	2	1	7	2	0	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr20:62178604A>G	ENST00000217188.1	-	1	253	c.213T>C	c.(211-213)agT>agC	p.S71S		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	71	SH3.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			CGCGGCGGACACTCAGCTCCC	0.697													G	62178604	A	G	62178604	2	3	479	1	0	0	0	0	0	0	0	1	15248	156	6	3		3	SRMS	20	62178604	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08	297298	62178604	846916	59	44793											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													G	50659212	A	G	50659212	2	3	479	1	0	0	0	0	0	0	0	1	16872	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-FG-7636-01A-11D-2086-08		50659212	645354	60	44794											
FAM47C	442444	broad.mit.edu	37	chrX	37028134	37028134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctcatctccgcccagagcctCctgagactggagtgtcccat	7	9	9	16	1	2	2	1	1	1	2	5	4	4	3	5	1	1	0	5	1	0	0			TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:37028134C>T	ENST00000358047.3	+	1	1703	c.1651C>T	c.(1651-1653)Cct>Tct	p.P551S		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	551										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CCCAGAGCCTCCTGAGACTGG	0.617													T	37028134	C	T	37028134	3	4	479	1	0	0	0	0	1	0	0	0	5622	855	30	2	1653	2	FAM47C	23	37028134	Missense_Mutation	SNP	C	TCGA-FG-7636-01A-11D-2086-08		37028134	118242426	61	44795											
ATRX	546	broad.mit.edu	37	chrX	76855040	76855046	+	Frame_Shift_Del	DEL	TTTCTTC	TTTCTTC	-																															tttttcccctttttccctttTttcttctttctaaaaacaaa																										TCGA-FG-7636-01A-11D-2086-08	TCGA-FG-7636-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	69986481-decd-42b7-9286-6850f1956764	667c8d9c-4ed8-4f36-99fb-84a6df7b0e5e	g.chrX:76855040_76855046delTTTCTTC	ENST00000373344.5	-	25	6004_6010	c.5790_5796delGAAGAAA	c.(5788-5796)aagaagaaafs	p.KKK1930fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KKK1892fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1930	Poly-Lys.				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)	TTTTCCCTTTTTTCTTCTTTCTaaaaa	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76855046	TTTCTTC	-	76855040	7	5	479	1	0	1	0	1	0	0	0	0	1213	1838	64	0	1726	0	ATRX	23	76855040	Frame_Shift_Del	DEL	TTTCTTC	TCGA-FG-7636-01A-11D-2086-08	39826906	76855040	78415520	62	44796											
ARID1A	8289	broad.mit.edu	37	chr1	27100381	27100381	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactacaatgtatcaacagCaacagcaggtgaggagggta	16	6	12	7	0	1	2	1	1	0	1	1	3	1	3	0	3	5	4	0	3	6	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27100381C>T	ENST00000324856.7	+	17	4464	c.4093C>T	c.(4093-4095)Caa>Taa	p.Q1365*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q1365*|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q982*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1365	Gln-rich.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTATCAACAGCAACAGCAGGT	0.498			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27100381	C	T	27100381	4	4	480	1	0	0	0	0	0	1	0	0	916	711	25	2	4159	2	ARID1A	1	27100381	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27100381	222150240	1	44797											
ARID1A	8289	broad.mit.edu	37	chr1	27106229	27106230	+	Frame_Shift_Del	DEL	AG	AG	-																															atttggcattagcccagcacAgagccaccggaacatcaaga																										TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:27106229_27106230delAG	ENST00000324856.7	+	20	6211_6212	c.5840_5841delAG	c.(5839-5841)cagfs	p.Q1947fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q1730fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q1564fs|ARID1A_ENST00000540690.1_Frame_Shift_Del_p.Q275fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1947					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.H1949fs*16(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGCCCAGCACAGAGCCACCGGA	0.53			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27106230	AG	-	27106229	7	5	480	1	0	1	0	1	0	0	0	0	916	188	7	0	5918	0	ARID1A	1	27106229	Frame_Shift_Del	DEL	AG	TCGA-FG-7637-01A-11D-2086-08	5848	27106229	222144392	2	44798											
SYT2	127833	broad.mit.edu	37	chr1	202568369	202568369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatctgctcgaaggggatctCaaagctgaaggactcgttga	12	9	12	8	2	2	2	1	2	2	0	5	5	2	4	0	3	2	3	0	3	4	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:202568369C>T	ENST00000367267.1	-	8	1222	c.1030G>A	c.(1030-1032)Gag>Aag	p.E344K	SYT2_ENST00000367268.4_Missense_Mutation_p.E344K	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	344	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity	p.E344Q(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	AAGGGGATCTCAAAGCTGAAG	0.522													T	202568369	C	T	202568369	3	4	480	1	0	0	0	0	1	0	0	0	15571	835	29	2	237	2	SYT2	1	202568369	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	175462140	202568369	46682252	3	44799											
HEATR1	55127	broad.mit.edu	37	chr1	236738051	236738051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ataaatatatctagactcttCggatcctcatttaaaaggga	15	13	6	7	1	3	1	1	0	2	1	5	3	4	3	1	2	0	0	1	2	7	7	rs142628625	byFrequency	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:236738051C>T	ENST00000366582.3	-	23	3351	c.3237G>A	c.(3235-3237)ccG>ccA	p.P1079P	HEATR1_ENST00000366581.2_Intron	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	1079					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTAGACTCTTCGGATCCTCAT	0.423													T	236738051	C	T	236738051	2	4	480	1	0	0	0	0	0	0	0	1	7082	871	31	1		1	HEATR1	1	236738051	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	34169682	236738051	12512570	4	44800											
KIF26B	55083	broad.mit.edu	37	chr1	245530297	245530297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgttggagcaggcagcCggcagtgagcactacgacgc	9	5	15	12	4	0	2	0	2	0	0	0	4	0	3	1	3	4	5	1	3	1	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:245530297C>T	ENST00000407071.2	+	3	1067	c.627C>T	c.(625-627)gcC>gcT	p.A209A	KIF26B_ENST00000479506.1_3'UTR	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	209					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			AGCAGGCAGCCGGCAGTGAGC	0.657													T	245530297	C	T	245530297	2	4	480	1	0	0	0	0	0	0	0	1	8353	639	23	1		1	KIF26B	1	245530297	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	8792246	245530297	3720324	5	44801											
OR2G6	391211	broad.mit.edu	37	chr1	248685220	248685220	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaataagaaagacaaaacCatgagctacggtggctgtgt	16	8	11	6	1	0	4	0	2	0	2	0	4	0	4	1	2	3	2	1	2	6	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr1:248685220C>T	ENST00000343414.4	+	1	305	c.273C>T	c.(271-273)acC>acT	p.T91T		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.T91T(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AAGACAAAACCATGAGCTACG	0.517													T	248685220	C	T	248685220	2	4	480	1	0	0	0	0	0	0	0	1	11076	581	21	2		2	OR2G6	1	248685220	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	3154923	248685220	565401	6	44802											
TMEM87B	84910	broad.mit.edu	37	chr2	112813196	112813196	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcctgccgctcggtagccGggctcctgccacgccgccgc	2	5	13	21	7	0	0	0	0	0	0	2	0	1	0	8	2	3	3	8	2	1	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:112813196G>T	ENST00000283206.4	+	1	397	c.28G>T	c.(28-30)Ggg>Tgg	p.G10W		NM_032824.2	NP_116213.1	Q96K49	TM87B_HUMAN	transmembrane protein 87B	10						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)	19						CTCGGTAGCCGGGCTCCTGCC	0.761													T	112813196	G	T	112813196	3	4	480	1	0	0	0	0	1	0	0	0	16311	1116	39	4	30	4	TMEM87B	2	112813196	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		112813196	130386177	7	44803											
ACVR1C	130399	broad.mit.edu	37	chr2	158401021	158401021	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaattgagagcgccagcttGatcattccagccacggtcac	10	8	10	13	2	2	2	2	2	0	1	3	3	3	2	3	1	3	2	3	1	1	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:158401021G>A	ENST00000243349.8	-	5	1239	c.879C>T	c.(877-879)atC>atT	p.I293I	ACVR1C_ENST00000335450.7_Silent_p.I213I|ACVR1C_ENST00000409680.3_Silent_p.I243I|ACVR1C_ENST00000348328.5_Silent_p.I136I	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2	Q8NER5	ACV1C_HUMAN	activin A receptor, type IC		Protein kinase.				apoptosis|cell differentiation|regulation of apoptosis	activin receptor complex	activin receptor activity, type I|ATP binding|transforming growth factor beta receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						GCGCCAGCTTGATCATTCCAG	0.398													A	158401021	G	A	158401021	2	1	480	1	0	0	0	0	0	0	0	1	222	1280	45	2		2	ACVR1C	2	158401021	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08	45587825	158401021	84798352	8	44804											
TTC30A	92104	broad.mit.edu	37	chr2	178482180	178482180	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatttctccatggtttcaTcatattcattcactgccttt	7	20	4	10	0	5	0	4	0	1	0	6	0	5	0	2	1	1	2	2	1	2	7			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr2:178482180T>C	ENST00000355689.5	-	1	1514	c.1250A>G	c.(1249-1251)gAt>gGt	p.D417G	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A						cell projection organization	cilium	binding			autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CATGGTTTCATCATATTCATT	0.423													C	178482180	T	C	178482180	3	2	480	1	0	0	0	0	1	0	0	0	16800	1435	50	3	751	3	TTC30A	2	178482180	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	20081159	178482180	64717193	9	44805											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	480	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	30630932	209113112	34086261	10	44806											
CCR9	10803	broad.mit.edu	37	chr3	45942529	45942529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagagtgaagaccatgacCgacatgttccttttgaattt	13	12	8	8	1	0	5	0	3	0	2	1	6	1	5	3	0	0	1	3	0	3	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:45942529C>T	ENST00000357632.2	+	3	429	c.249C>T	c.(247-249)acC>acT	p.T83T	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Silent_p.T71T|CCR9_ENST00000395963.2_Silent_p.T71T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	83					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		AGACCATGACCGACATGTTCC	0.507													T	45942529	C	T	45942529	2	4	480	1	0	0	0	0	0	0	0	1	2978	639	23	1		1	CCR9	3	45942529	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08		45942529	152079901	11	44807											
PTPN23	25930	broad.mit.edu	37	chr3	47447437	47447437	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtacccatttccagtgCgcagccggcgccttcgccta	5	10	9	17	4	0	0	0	0	0	0	3	0	2	0	6	1	3	2	6	1	2	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:47447437C>A	ENST00000265562.4	+	6	524	c.447C>A	c.(445-447)tgC>tgA	p.C149*	PTPN23_ENST00000431726.1_Nonsense_Mutation_p.C23*	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	149	BRO1.				cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATTTCCAGTGCGCAGCCGGCG	0.597													A	47447437	C	A	47447437	4	1	480	1	0	0	0	0	0	1	0	0	12876	776	27	4	469	4	PTPN23	3	47447437	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	1504908	47447437	150574993	12	44808											
PIGZ	80235	broad.mit.edu	37	chr3	196675277	196675277	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaccagggtgacgtaggaaCcagacagcagggccagggcg	12	2	17	10	2	0	3	0	1	0	2	0	4	0	4	3	4	2	2	3	4	2	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr3:196675277C>A	ENST00000412723.1	-	3	637	c.491G>T	c.(490-492)gGt>gTt	p.G164V	PIGZ_ENST00000443835.1_Intron	NM_025163.2	NP_079439.2	Q86VD9	PIGZ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Z	164					GPI anchor biosynthetic process	integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,2-mannosyltransferase activity			breast(1)|endometrium(1)|lung(7)|ovary(3)|prostate(1)|urinary_tract(1)	14	all_cancers(143;1.05e-08)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.29e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.03e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00603)		GACGTAGGAACCAGACAGCAG	0.617													A	196675277	C	A	196675277	3	1	480	1	0	0	0	0	1	0	0	0	11982	507	18	4	1252	4	PIGZ	3	196675277	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	149227840	196675277	1347153	13	44809											
FRAS1	80144	broad.mit.edu	37	chr4	79204003	79204003	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgggaagatggcccttgCaaggtgtgtgagtgccgagg	9	8	18	6	1	0	2	0	1	0	1	0	4	0	3	2	4	2	1	2	4	3	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:79204003C>A	ENST00000264895.6	+	12	1577	c.1137C>A	c.(1135-1137)tgC>tgA	p.C379*	FRAS1_ENST00000325942.6_Nonsense_Mutation_p.C379*|FRAS1_ENST00000264899.6_Nonsense_Mutation_p.C379*	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	379	VWFC 6.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCCCTTGCAAGGTGTGTG	0.532													A	79204003	C	A	79204003	4	1	480	1	0	0	0	0	0	1	0	0	6093	718	25	4	1183	4	FRAS1	4	79204003	Nonsense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		79204003	111950273	14	44810											
NPNT	255743	broad.mit.edu	37	chr4	106890076	106890076	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaaaggtgaaaaaaggCgtggtcacactggggagatt	13	9	13	6	1	3	2	2	1	1	1	3	3	3	2	0	5	0	0	0	5	4	2	rs139540458		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr4:106890076C>A	ENST00000379987.2	+	12	1843	c.1627C>A	c.(1627-1629)Cgt>Agt	p.R543S	NPNT_ENST00000427316.2_Missense_Mutation_p.R573S|NPNT_ENST00000506666.1_Missense_Mutation_p.R544S|NPNT_ENST00000514622.1_Missense_Mutation_p.R514S|NPNT_ENST00000453617.2_Missense_Mutation_p.R560S|NPNT_ENST00000305572.8_Intron	NM_001033047.2	NP_001028219.1	Q6UXI9	NPNT_HUMAN	nephronectin	543	MAM.				cell differentiation	membrane	calcium ion binding			kidney(5)|large_intestine(2)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	21		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;5.41e-07)		TGAAAAAAGGCGTGGTCACAC	0.448													A	106890076	C	A	106890076	3	1	480	1	0	0	0	0	1	0	0	0	10666	768	27	4	1822	4	NPNT	4	106890076	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	27686073	106890076	84264200	15	44811											
PPP2CA	5515	broad.mit.edu	37	chr5	133534841	133534841	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttaccacaacgataacaatAgtttggagcactgaaaatcg	16	9	8	8	2	0	1	0	1	0	0	1	3	0	2	1	1	4	3	1	1	7	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:133534841A>T	ENST00000481195.1	-	6	1073	c.793T>A	c.(793-795)Tat>Aat	p.Y265N	CTD-2410N18.5_ENST00000519718.1_Intron	NM_002715.2	NP_002706.1			protein phosphatase 2, catalytic subunit, alpha isozyme											endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CGATAACAATAGTTTGGAGCA	0.373													T	133534841	A	T	133534841	3	4	480	1	0	0	0	0	1	0	0	0	12462	420	15	5	144	5	PPP2CA	5	133534841	Missense_Mutation	SNP	A	TCGA-FG-7637-01A-11D-2086-08		133534841	47380419	16	44812											
KIF20A	10112	broad.mit.edu	37	chr5	137521298	137521298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgaattggccctacGgcggtcacaaaggttggcag	9	8	15	9	2	2	1	1	1	1	0	2	1	2	1	1	6	1	2	1	6	3	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr5:137521298G>A	ENST00000394894.3	+	16	2250	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	KIF20A_ENST00000508792.1_Missense_Mutation_p.R657Q	NM_005733.2	NP_005724.1	O95235	KI20A_HUMAN	kinesin family member 20A	675					cytokinesis|M phase of mitotic cell cycle|microtubule-based movement|protein transport|vesicle-mediated transport	Golgi apparatus|microtubule|nucleoplasm	ATP binding|microtubule motor activity|protein binding|transporter activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|liver(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(1)	27			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTGGCCCTACGGCGGTCACAA	0.507													A	137521298	G	A	137521298	3	1	480	1	0	0	0	0	1	0	0	0	8344	1116	39	1	2082	1	KIF20A	5	137521298	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	3986457	137521298	43393962	17	44813											
DST	667	broad.mit.edu	37	chr6	56483940	56483940	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttgtctgtttatgcaagTgttcatttgtgctgcgtagc	5	20	10	6	1	2	0	1	0	1	0	2	0	2	0	0	0	4	5	0	0	3	7			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:56483940T>G	ENST00000370765.6	-	23	4999	c.4892A>C	c.(4891-4893)cAc>cCc	p.H1631P	DST_ENST00000421834.2_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000370754.5_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	5303					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTTATGCAAGTGTTCATTTGT	0.348													G	56483940	T	G	56483940	3	3	480	1	0	0	0	0	1	0	0	0	4822	1696	59	5	15511	5	DST	6	56483940	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08		56483940	114631127	18	44814											
RFX6	222546	broad.mit.edu	37	chr6	117246787	117246787	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccctgctctgcaccagtTccctgctgggaacacagaca	9	7	10	15	0	1	1	0	0	1	1	2	2	2	2	3	2	4	4	3	2	1	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr6:117246787T>A	ENST00000332958.2	+	16	1866	c.1850T>A	c.(1849-1851)tTc>tAc	p.F617Y		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	617					glucose homeostasis|pancreatic A cell differentiation|pancreatic D cell differentiation|pancreatic E cell differentiation|positive regulation of transcription, DNA-dependent|regulation of insulin secretion|transcription, DNA-dependent|type B pancreatic cell differentiation	nucleus	protein binding|transcription regulatory region DNA binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						CTGCACCAGTTCCCTGCTGGG	0.532													A	117246787	T	A	117246787	3	1	480	1	0	0	0	0	1	0	0	0	13355	1783	62	5	1912	5	RFX6	6	117246787	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	60762847	117246787	53868280	19	44815											
NPC1L1	29881	broad.mit.edu	37	chr7	44579720	44579720	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgataccagctgcttggcGgagcagcaggcttgggtgtt	7	10	16	8	1	0	1	0	1	0	0	0	2	0	2	1	4	5	6	1	4	1	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:44579720G>A	ENST00000289547.4	-	2	331	c.276C>T	c.(274-276)tcC>tcT	p.S92S	NPC1L1_ENST00000546276.1_Silent_p.S92S|NPC1L1_ENST00000423141.1_Silent_p.S92S|NPC1L1_ENST00000381160.3_Silent_p.S92S	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	92					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding	p.S92S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	GCTGCTTGGCGGAGCAGCAGG	0.602													A	44579720	G	A	44579720	2	1	480	1	0	0	0	0	0	0	0	1	10647	1103	39	1		1	NPC1L1	7	44579720	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		44579720	114558943	20	44816											
PKD1L1	168507	broad.mit.edu	37	chr7	47882609	47882609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccagtgtcaatgacgaccGcatatagctgatggcccggc	10	7	12	12	3	1	2	1	2	0	0	1	3	1	2	3	2	2	2	3	2	3	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:47882609G>A	ENST00000289672.2	-	34	5446	c.5396C>T	c.(5395-5397)gCg>gTg	p.A1799V		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1799	PLAT.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						AATGACGACCGCATATAGCTG	0.483													A	47882609	G	A	47882609	3	1	480	1	0	0	0	0	1	0	0	0	12041	1087	38	1	3249	1	PKD1L1	7	47882609	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	3302889	47882609	111256054	21	44817											
SRPK2	6733	broad.mit.edu	37	chr7	104783594	104783594	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgtttttagtttcacctCtgggcagtattcgccatcct	5	18	8	10	1	2	0	1	0	1	0	4	0	3	0	3	1	0	5	3	1	2	7			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr7:104783594C>T	ENST00000357311.3	-	9	1135	c.964G>A	c.(964-966)Gag>Aag	p.E322K	SRPK2_ENST00000489828.1_Missense_Mutation_p.E322K|SRPK2_ENST00000393651.3_Missense_Mutation_p.E333K	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	322	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						AGTTTCACCTCTGGGCAGTAT	0.498													T	104783594	C	T	104783594	3	4	480	1	0	0	0	0	1	0	0	0	15256	922	32	2	1130	2	SRPK2	7	104783594	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	56900985	104783594	54355069	22	44818											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37730001	37730001	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatgctcccatgggaagaggGggcgccacttcttcagctgc	7	8	14	12	1	2	1	1	0	1	1	3	3	3	2	2	3	3	2	2	3	1	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr8:37730001G>A	ENST00000330843.4	-	4	2331	c.2319C>T	c.(2317-2319)ccC>ccT	p.P773P	RAB11FIP1_ENST00000524118.1_Intron|RAB11FIP1_ENST00000287263.4_Intron|RAB11FIP1_ENST00000523182.1_5'UTR|RAB11FIP1_ENST00000522727.1_Intron	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	773					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			TGGGAAGAGGGGGCGCCACTT	0.557													A	37730001	G	A	37730001	2	1	480	1	0	0	0	0	0	0	0	1	12981	1219	43	2		2	RAB11FIP1	8	37730001	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		37730001	108634021	23	44819											
TEK	7010	broad.mit.edu	37	chr9	27172734	27172734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgggtttatgggaaggaCgtgtgagaagggtaagtaaa	12	10	16	3	1	0	1	0	1	0	1	1	4	1	3	1	4	0	3	1	4	6	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr9:27172734C>T	ENST00000380036.4	+	5	1191	c.749C>T	c.(748-750)aCg>aTg	p.T250M	TEK_ENST00000519097.1_Missense_Mutation_p.T146M|TEK_ENST00000406359.4_Missense_Mutation_p.T250M	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	250	EGF-like 1.				angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATGGGAAGGACGTGTGAGAAG	0.433													T	27172734	C	T	27172734	3	4	480	1	0	0	0	0	1	0	0	0	15851	536	19	1	767	1	TEK	9	27172734	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27172734	114040697	24	44820											
ANKRD26	22852	broad.mit.edu	37	chr10	27381396	27381396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattaaaaattccaccatttGctgcttttttccacttactg	10	18	3	10	0	0	0	0	0	0	0	2	0	2	0	3	0	3	2	3	0	5	8			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:27381396G>C	ENST00000376087.4	-	4	742	c.577C>G	c.(577-579)Caa>Gaa	p.Q193E	ANKRD26_ENST00000436985.2_Missense_Mutation_p.Q193E	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	193						centrosome				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TCCACCATTTGCTGCTTTTTT	0.323													C	27381396	G	C	27381396	3	2	480	1	0	0	0	0	1	0	0	0	654	1328	46	4	4679	4	ANKRD26	10	27381396	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		27381396	108153351	25	44821											
TLL2	7093	broad.mit.edu	37	chr10	98144479	98144479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgccgtgcagcttggcgtCgggggacaggccgctgcgca	4	6	17	14	5	0	0	0	0	0	0	1	1	0	1	3	4	4	4	3	4	0	1	rs141438733		TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:98144479C>T	ENST00000357947.3	-	16	2284	c.2059G>A	c.(2059-2061)Gac>Aac	p.D687N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	687	CUB 3.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		AGCTTGGCGTCGGGGGACAGG	0.622													T	98144479	C	T	98144479	3	4	480	1	0	0	0	0	1	0	0	0	16046	884	31	1	1012	1	TLL2	10	98144479	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08	70763083	98144479	37390268	26	44822											
MGEA5	10724	broad.mit.edu	37	chr10	103577687	103577687	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggtgccggagctgccggCggctccagcgatgcccccgc	3	4	16	18	6	0	0	0	0	0	0	1	2	1	1	6	4	5	2	6	4	0	0			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:103577687C>A	ENST00000361464.3	-	1	488	c.93G>T	c.(91-93)ccG>ccT	p.P31P	MGEA5_ENST00000439817.1_Silent_p.P31P|MGEA5_ENST00000370094.3_Silent_p.P31P|MGEA5_ENST00000419011.2_Silent_p.P31P|MGEA5_ENST00000357797.5_Silent_p.P31P	NM_012215.3	NP_036347.1	O60502	NCOAT_HUMAN	meningioma expressed antigen 5 (hyaluronidase)	31					glycoprotein catabolic process	cytoplasm|nucleus	histone acetyltransferase activity|hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	23		Colorectal(252;0.207)		Epithelial(162;4.67e-09)|all cancers(201;2.54e-07)		GAGCTGCCGGCGGCTCCAGCG	0.726													A	103577687	C	A	103577687	2	1	480	1	0	0	0	0	0	0	0	1	9630	755	27	4		4	MGEA5	10	103577687	Silent	SNP	C	TCGA-FG-7637-01A-11D-2086-08	5433208	103577687	31957060	27	44823											
CUEDC2	79004	broad.mit.edu	37	chr10	104184887	104184887	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacctgaggtcggcctccGggaggtgtgtctggacaaag	7	9	15	10	2	2	1	0	1	2	0	4	3	3	3	3	5	1	0	3	5	2	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr10:104184887G>A	ENST00000369937.4	-	2	204	c.59C>T	c.(58-60)cCg>cTg	p.P20L		NM_024040.2	NP_076945.2	Q9H467	CUED2_HUMAN	CUE domain containing 2	20						cytoplasm|nucleus	protein binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.122)		Epithelial(162;9.17e-09)|all cancers(201;2.16e-07)|BRCA - Breast invasive adenocarcinoma(275;0.215)		GTCGGCCTCCGGGAGGTGTGT	0.602													A	104184887	G	A	104184887	3	1	480	1	0	0	0	0	1	0	0	0	4086	1116	39	1	836	1	CUEDC2	10	104184887	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	607200	104184887	31349860	28	44824											
MUC2	4583	broad.mit.edu	37	chr11	1087506	1087506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgctcctgtgacacgggtgGggactgtgagtgcttctgct	4	12	16	9	1	1	2	0	2	1	0	2	3	2	3	1	3	3	3	1	3	0	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:1087506G>A	ENST00000441003.2	+	24	3284	c.3257G>A	c.(3256-3258)gGg>gAg	p.G1086E	MUC2_ENST00000359061.5_Missense_Mutation_p.G1086E	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1086						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GACACGGGTGGGGACTGTGAG	0.652													A	1087506	G	A	1087506	3	1	480	1	0	0	0	0	1	0	0	0	10051	1232	43	2	3351	2	MUC2	11	1087506	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		1087506	133919010	29	44825											
OR5D18	219438	broad.mit.edu	37	chr11	55587473	55587473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgtgatggcctatgaccGcttcgtggccatttgcaacc	7	11	11	12	2	0	2	0	2	0	0	1	2	0	2	4	2	3	3	4	2	2	3			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:55587473G>A	ENST00000333976.4	+	1	388	c.368G>A	c.(367-369)cGc>cAc	p.R123H		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				GCCTATGACCGCTTCGTGGCC	0.458													A	55587473	G	A	55587473	3	1	480	1	0	0	0	0	1	0	0	0	11233	1087	38	1	370	1	OR5D18	11	55587473	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	54499967	55587473	79419043	30	44826											
INPPL1	3636	broad.mit.edu	37	chr11	71942617	71942617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagaaccgtatcagccatGtcagtacgtccagtgtgaag	12	8	11	10	3	2	2	2	1	0	1	3	3	3	2	3	0	3	2	3	0	4	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr11:71942617G>A	ENST00000298229.2	+	13	1777	c.1573G>A	c.(1573-1575)Gtc>Atc	p.V525I	INPPL1_ENST00000541756.1_Missense_Mutation_p.V283I|INPPL1_ENST00000538751.1_Missense_Mutation_p.V283I	NM_001567.3	NP_001558.3	O15357	SHIP2_HUMAN	inositol polyphosphate phosphatase-like 1	525					actin filament organization|cell adhesion|endocytosis	actin cortical patch|cytosol	actin binding|SH2 domain binding|SH3 domain binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATCAGCCATGTCAGTACGTC	0.562													A	71942617	G	A	71942617	3	1	480	1	0	0	0	0	1	0	0	0	7819	1377	48	2	1623	2	INPPL1	11	71942617	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	16355144	71942617	63063899	31	44827											
LIMA1	51474	broad.mit.edu	37	chr12	50598436	50598436	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggaagttccagatttcGtctactctcatttttctccg	6	16	8	11	3	3	1	1	0	3	1	7	2	4	2	2	1	1	1	2	1	2	5			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:50598436G>A	ENST00000341247.4	-	6	912	c.763C>T	c.(763-765)Cga>Tga	p.R255*	LIMA1_ENST00000552783.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000394943.3_Nonsense_Mutation_p.R255*|LIMA1_ENST00000552823.1_Nonsense_Mutation_p.R95*|LIMA1_ENST00000552008.1_5'UTR|LIMA1_ENST00000552909.1_Nonsense_Mutation_p.R95*	NM_001113546.1|NM_016357.4	NP_001107018.1|NP_057441.1	Q9UHB6	LIMA1_HUMAN	LIM domain and actin binding 1	255					actin filament bundle assembly|negative regulation of actin filament depolymerization|ruffle organization	cytoplasm|focal adhesion|stress fiber	actin filament binding|actin monomer binding|zinc ion binding			NS(1)|breast(4)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(2)	44						TCCAGATTTCGTCTACTCTCA	0.423													A	50598436	G	A	50598436	4	1	480	1	0	0	0	0	0	1	0	0	8856	1153	40	1	1543	1	LIMA1	12	50598436	Nonsense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08		50598436	83253459	32	44828											
C12orf50	160419	broad.mit.edu	37	chr12	88390403	88390403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcaatttcttcaggggtctTtgtccataaactagaagcat	11	15	7	8	0	4	1	2	0	2	1	5	1	5	1	1	2	2	1	1	2	5	6			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr12:88390403T>C	ENST00000298699.2	-	5	490	c.310A>G	c.(310-312)Aag>Gag	p.K104E	C12orf50_ENST00000550553.1_Missense_Mutation_p.K104E	NM_152589.1	NP_689802.1	Q8NA57	CL050_HUMAN	chromosome 12 open reading frame 50	104										NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|skin(3)|urinary_tract(2)	34						TCAGGGGTCTTTGTCCATAAA	0.289													C	88390403	T	C	88390403	3	2	480	1	0	0	0	0	1	0	0	0	1708	1850	64	3	970	3	C12orf50	12	88390403	Missense_Mutation	SNP	T	TCGA-FG-7637-01A-11D-2086-08	37791967	88390403	45461492	33	44829											
GPR180	160897	broad.mit.edu	37	chr13	95273351	95273351	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtttttgacatcgcttcccaAattcagatgttatacttact	10	17	5	9	1	1	2	1	1	0	1	3	2	2	2	1	0	2	3	1	0	4	7			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr13:95273351A>G	ENST00000376958.4	+	6	781	c.756A>G	c.(754-756)caA>caG	p.Q252Q		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	252						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCGCTTCCCAAATTCAGATGT	0.373													G	95273351	A	G	95273351	2	3	480	1	0	0	0	0	0	0	0	1	6730	11	1	3		3	GPR180	13	95273351	Silent	SNP	A	TCGA-FG-7637-01A-11D-2086-08		95273351	19896527	34	44830											
SEL1L	6400	broad.mit.edu	37	chr14	81946063	81946063	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagctgccatgtcataaaAacgtttcgcaaggtgaatat	13	12	8	8	2	2	1	2	1	0	0	3	1	2	1	1	1	3	3	1	1	6	4			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr14:81946063A>C	ENST00000336735.4	-	20	2184	c.2068T>G	c.(2068-2070)Ttt>Gtt	p.F690V		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	690	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		ATGTCATAAAAACGTTTCGCA	0.383													C	81946063	A	C	81946063	3	2	480	1	0	0	0	0	1	0	0	0	14103	14	1	5	324	5	SEL1L	14	81946063	Missense_Mutation	SNP	A	TCGA-FG-7637-01A-11D-2086-08		81946063	25403477	35	44831											
ABCA3	21	broad.mit.edu	37	chr16	2374516	2374516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtcctcaaagtccttctcGgagggaaagccgcgcactgc	9	8	11	13	3	2	0	1	0	1	0	5	2	4	2	3	2	2	1	3	2	3	2	rs138952710	by1000genomes	TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr16:2374516G>A	ENST00000301732.5	-	6	1036	c.336C>T	c.(334-336)tcC>tcT	p.S112S	ABCA3_ENST00000382381.3_Silent_p.S112S|ABCA3_ENST00000567910.1_Silent_p.S112S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	112					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGTCCTTCTCGGAGGGAAAGC	0.587													A	2374516	G	A	2374516	2	1	480	1	0	0	0	0	0	0	0	1	33	1103	39	1		1	ABCA3	16	2374516	Silent	SNP	G	TCGA-FG-7637-01A-11D-2086-08		2374516	87980237	36	44832											
RAB34	83871	broad.mit.edu	37	chr17	27042713	27042713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgaacctctcctgcccagCggtatcccaactggaaggaa	10	9	9	13	1	1	1	0	1	1	0	3	3	2	3	4	3	4	1	4	3	5	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:27042713C>T	ENST00000395245.3	-	5	951	c.325G>A	c.(325-327)Gct>Act	p.A109T	RAB34_ENST00000301043.6_Missense_Mutation_p.A109T|RAB34_ENST00000395243.3_Missense_Mutation_p.A109T|RAB34_ENST00000395242.2_Missense_Mutation_p.A110T|RAB34_ENST00000447716.1_Missense_Mutation_p.A166T|RAB34_ENST00000415040.2_Missense_Mutation_p.A87T|RAB34_ENST00000450529.1_Missense_Mutation_p.A109T|RAB34_ENST00000436730.3_Missense_Mutation_p.A109T|RAB34_ENST00000453384.3_Missense_Mutation_p.A167T	NM_001256281.1|NM_031934.5	NP_001243210.1|NP_114140.4	Q9BZG1	RAB34_HUMAN	RAB34, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	Golgi apparatus	GTP binding			endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|skin(2)	14	Lung NSC(42;0.00431)					TCCTGCCCAGCGGTATCCCAA	0.547													T	27042713	C	T	27042713	3	4	480	1	0	0	0	0	1	0	0	0	13012	768	27	1	542	1	RAB34	17	27042713	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		27042713	54152497	37	44833											
NLE1	54475	broad.mit.edu	37	chr17	33464163	33464163	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagttgtgtcccagatccGcacactgccatccttggagc	7	10	10	14	1	0	1	0	0	0	1	3	2	3	2	4	1	3	3	4	1	0	2			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr17:33464163G>A	ENST00000442241.4	-	7	724	c.685C>T	c.(685-687)Cgg>Tgg	p.R229W	NLE1_ENST00000360831.5_Missense_Mutation_p.R187W|NLE1_ENST00000586869.1_5'UTR|NLE1_ENST00000593176.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	229						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				TCCCAGATCCGCACACTGCCA	0.617													A	33464163	G	A	33464163	3	1	480	1	0	0	0	0	1	0	0	0	10536	1086	38	1	800	1	NLE1	17	33464163	Missense_Mutation	SNP	G	TCGA-FG-7637-01A-11D-2086-08	6421450	33464163	47731047	38	44834											
HDGFRP2	84717	broad.mit.edu	37	chr19	4493799	4493801	+	In_Frame_Del	DEL	TCC	TCC	-																															cggcgtcctcctcctcctctTcctcctcctcctccgactcc																										TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr19:4493799_4493801delTCC	ENST00000301284.4	+	7	842_844	c.778_780delTCC	c.(778-780)tccdel	p.S264del	HDGFRP2_ENST00000586684.1_In_Frame_Del_p.S264del	NM_001001520.1|NM_032631.2	NP_001001520|NP_116020.1	Q7Z4V5	HDGR2_HUMAN		264	Ser-rich.				transcription, DNA-dependent	nucleus	DNA binding|protein binding										ctcctcctcttcctcctcctcct	0.675													-	4493801	TCC	-	4493799	7	5	480	1	0	1	0	1	0	0	0	0	7075	1783	62	0	804	0	HDGFRP2	19	4493799	In_Frame_Del	DEL	TCC	TCGA-FG-7637-01A-11D-2086-08		4493799	54635184	39	44835											
FTCD	10841	broad.mit.edu	37	chr21	47574183	47574183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggttggtggaagggcctgCgtccacatccagcagcacgc	7	6	15	13	3	0	0	0	0	0	0	2	1	2	1	3	4	3	3	3	4	1	1			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr21:47574183C>T	ENST00000397748.1	-	2	161	c.118G>A	c.(118-120)Gca>Aca	p.A40T	FTCD_ENST00000359679.2_Missense_Mutation_p.A40T|FTCD_ENST00000355384.2_Missense_Mutation_p.A40T|FTCD_ENST00000397746.3_Missense_Mutation_p.A40T|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000291670.5_Missense_Mutation_p.A40T|FTCD_ENST00000397743.1_Missense_Mutation_p.A40T			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	40	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GAAGGGCCTGCGTCCACATCC	0.677													T	47574183	C	T	47574183	3	4	480	1	0	0	0	0	1	0	0	0	6133	768	27	1	1559	1	FTCD	21	47574183	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		47574183	555712	40	44836											
TOM1	10043	broad.mit.edu	37	chr22	35726358	35726358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctcaaccgcacgtgcCgagccatgcagcagcgggtc	9	4	14	14	4	1	0	1	0	0	0	2	2	1	1	3	2	7	4	3	2	1	0			TCGA-FG-7637-01A-11D-2086-08	TCGA-FG-7637-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aea26718-ba34-444f-9122-0faf73b62ea1	c2346512-f289-4ac1-a8c9-460c4f3f0126	g.chr22:35726358C>G	ENST00000382034.5	+	9	925	c.583C>G	c.(583-585)Cga>Gga	p.R195G	TOM1_ENST00000449058.2_Missense_Mutation_p.R262G|TOM1_ENST00000436462.2_Missense_Mutation_p.R224G|TOM1_ENST00000411850.1_Missense_Mutation_p.R262G|TOM1_ENST00000425375.1_Missense_Mutation_p.R217G|TOM1_ENST00000447733.1_Missense_Mutation_p.R229G			O60784	TOM1_HUMAN	target of myb1 (chicken)	262					endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding			NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						CCGCACGTGCCGAGCCATGCA	0.537													G	35726358	C	G	35726358	3	3	480	1	0	0	0	0	1	0	0	0	16451	644	23	4	814	4	TOM1	22	35726358	Missense_Mutation	SNP	C	TCGA-FG-7637-01A-11D-2086-08		35726358	15578208	41	44837											
LCE5A	254910	broad.mit.edu	37	chr1	152484246	152484246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggccccgccagtccctccGacgccgacctcagagttcca	7	5	9	20	4	1	1	1	0	0	1	4	3	4	1	8	1	0	1	8	1	0	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr1:152484246G>A	ENST00000334269.2	+	2	412	c.236G>A	c.(235-237)cGa>cAa	p.R79Q		NM_178438.4	NP_848525.1	Q5TCM9	LCE5A_HUMAN	late cornified envelope 5A	79	Cys-rich.				keratinization					lung(3)|ovary(1)|prostate(3)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGTCCCTCCGACGCCGACCT	0.682													A	152484246	G	A	152484246	3	1	481	1	0	0	0	0	1	0	0	0	8734	1058	37	1	238	1	LCE5A	1	152484246	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		152484246	96766375	1	44838											
ASXL2	55252	broad.mit.edu	37	chr2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-																															tcaccttggctttcacactcTtcttttctgcctggtgatga																										TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.KE444fs	ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473													-	25973094	TTCTT	-	25973090	7	5	481	1	0	1	0	1	0	0	0	0	1072	1606	56	0	2980	0	ASXL2	2	25973090	Frame_Shift_Del	DEL	TTCTT	TCGA-FG-7638-01B-11D-2086-08		25973090	217226283	2	44839											
GTF3C3	9330	broad.mit.edu	37	chr2	197657737	197657737	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaatacaaatacatcgccCgcagtgggttgctcaggtgt	10	10	10	11	2	1	0	1	0	0	0	3	0	2	0	2	2	3	3	2	2	4	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:197657737C>T	ENST00000263956.3	-	3	443	c.354G>A	c.(352-354)gcG>gcA	p.A118A	GTF3C3_ENST00000409364.3_Silent_p.A118A	NM_012086.4	NP_036218.1	Q9Y5Q9	TF3C3_HUMAN	general transcription factor IIIC, polypeptide 3, 102kDa	118						transcription factor TFIIIC complex	DNA binding|protein binding			breast(4)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						ATACATCGCCCGCAGTGGGTT	0.403													T	197657737	C	T	197657737	2	4	481	1	0	0	0	0	0	0	0	1	6929	639	23	1		1	GTF3C3	2	197657737	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	171684647	197657737	45541636	3	44840											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	481	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	11455375	209113112	34086261	4	44841											
ZPLD1	131368	broad.mit.edu	37	chr3	102181219	102181219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaagccactaatttggatgGcaggtaatttcaaactcttg	12	12	8	9	0	2	0	1	0	1	0	2	1	2	1	2	3	2	2	2	3	4	5	rs150699636		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr3:102181219G>A	ENST00000306176.1	+	6	825	c.725G>A	c.(724-726)gGc>gAc	p.G242D	ZPLD1_ENST00000491959.1_Missense_Mutation_p.G226D|ZPLD1_ENST00000466937.1_Missense_Mutation_p.G226D	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	226	ZP.			N -> S (in Ref. 3; AAH31261).		integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						AATTTGGATGGCAGGTAATTT	0.358													A	102181219	G	A	102181219	3	1	481	1	0	0	0	0	1	0	0	0	18320	1203	42	2	747	2	ZPLD1	3	102181219	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		102181219	95841211	5	44842											
GPRIN1	114787	broad.mit.edu	37	chr5	176026758	176026758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgtgggcagaagaaGgctgtgggtcggggtcctgg	6	8	18	9	1	0	2	0	0	0	2	3	2	2	2	3	6	0	2	3	6	2	0			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr5:176026758G>A	ENST00000303991.4	-	2	255	c.78C>T	c.(76-78)gcC>gcT	p.A26A		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	26						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGCAGAAGAAGGCTGTGGGTC	0.642													A	176026758	G	A	176026758	2	1	481	1	0	0	0	0	0	0	0	1	6784	987	35	2		2	GPRIN1	5	176026758	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		176026758	4888502	6	44843											
TRRAP	8295	broad.mit.edu	37	chr7	98576479	98576479	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctacctcgtcctggagtgCgcctggcgggtgtccaactg	4	9	13	15	3	0	0	0	0	0	0	3	1	2	1	5	3	3	0	5	3	2	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr7:98576479C>T	ENST00000359863.4	+	57	8774	c.8565C>T	c.(8563-8565)tgC>tgT	p.C2855C	TRRAP_ENST00000355540.3_Silent_p.C2837C|TRRAP_ENST00000446306.3_Silent_p.C2837C	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	2855	FAT.				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	p.C2837C(1)|p.C2855C(1)		NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TCCTGGAGTGCGCCTGGCGGG	0.617													T	98576479	C	T	98576479	2	4	481	1	0	0	0	0	0	0	0	1	16702	776	27	1		1	TRRAP	7	98576479	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08		98576479	60562184	7	44844											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													G	12957624	C	G	12957624	3	3	481	1	0	0	0	0	1	0	0	0	4589	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		12957624	133406398	8	44845											
NEFM	4741	broad.mit.edu	37	chr8	24772187	24772187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgaagagtggttcaaatGccgctacgccaagctcaccg	10	6	12	13	4	2	1	2	0	0	1	2	2	2	1	4	2	3	3	4	2	4	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr8:24772187G>C	ENST00000221166.5	+	1	1663	c.881G>C	c.(880-882)tGc>tCc	p.C294S	NEFM_ENST00000437366.2_Missense_Mutation_p.C294S|NEFM_ENST00000518131.1_Missense_Mutation_p.C294S|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	294	Coil 2B.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		TGGTTCAAATGCCGCTACGCC	0.602													C	24772187	G	C	24772187	3	2	481	1	0	0	0	0	1	0	0	0	10392	1319	46	4	883	4	NEFM	8	24772187	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	11814563	24772187	121591835	9	44846											
ZFAND5	7763	broad.mit.edu	37	chr9	74970965	74970965	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacggacagttgtgcttGtcagagtaacggtgaagtcc	10	11	12	8	2	2	2	2	1	0	1	3	3	3	3	1	2	3	3	1	2	3	4			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:74970965G>A	ENST00000237937.3	-	6	1103	c.546C>T	c.(544-546)gaC>gaT	p.D182D	ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376962.5_Silent_p.D182D|ZFAND5_ENST00000343431.2_Silent_p.D182D|ZFAND5_ENST00000376960.4_Silent_p.D182D	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	182							DNA binding|zinc ion binding			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						AGTTGTGCTTGTCAGAGTAAC	0.378													A	74970965	G	A	74970965	2	1	481	1	0	0	0	0	0	0	0	1	17731	1368	48	2		2	ZFAND5	9	74970965	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		74970965	66242466	10	44847											
ST6GALNAC4	27090	broad.mit.edu	37	chr9	130672316	130672316	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggtgaaccagccggtgctGaggaaggagcccgactgcct	9	6	15	11	2	0	2	0	2	0	0	0	5	0	4	4	4	5	1	4	4	2	0			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:130672316G>C	ENST00000335791.5	-	5	908	c.633C>G	c.(631-633)ctC>ctG	p.L211L	ST6GALNAC4_ENST00000343609.2_Silent_p.L127L|ST6GALNAC4_ENST00000495983.1_5'UTR	NM_175039.3	NP_778204.1	Q9H4F1	SIA7D_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 4	211					glycolipid metabolic process|protein glycosylation	integral to Golgi membrane|nucleus|soluble fraction	(alpha-N-acetylneuraminyl-2,3-beta-galactosyl-1,3)-N-acetyl-galactosaminide 6-alpha-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(2)	7						AGCCGGTGCTGAGGAAGGAGC	0.642													C	130672316	G	C	130672316	2	2	481	1	0	0	0	0	0	0	0	1	15322	1277	45	4		4	ST6GALNAC4	9	130672316	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	55701351	130672316	10541115	11	44848											
NOTCH1	4851	broad.mit.edu	37	chr9	139412302	139412302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttgacgtcgatctcgcatCgggggcccgtgtagccctgc	4	9	14	14	6	1	1	0	1	1	0	4	2	1	1	2	2	2	3	2	2	1	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr9:139412302C>A	ENST00000277541.6	-	8	1418	c.1343G>T	c.(1342-1344)cGa>cTa	p.R448L		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	448	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GATCTCGCATCGGGGGCCCGT	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139412302	C	A	139412302	3	1	481	1	0	0	0	0	1	0	0	0	10623	884	31	4	6432	4	NOTCH1	9	139412302	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	8739986	139412302	1801129	12	44849											
GDPD5	81544	broad.mit.edu	37	chr11	75148073	75148073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctcagggttgtagctcCgtatgccacccaggcgccac	6	9	11	15	2	2	0	1	0	1	0	3	0	3	0	4	2	3	5	4	2	2	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:75148073C>T	ENST00000526177.1	-	12	3041	c.1163G>A	c.(1162-1164)cGg>cAg	p.R388Q	GDPD5_ENST00000529721.1_Missense_Mutation_p.R526Q|GDPD5_ENST00000533805.1_Missense_Mutation_p.R281Q|GDPD5_ENST00000443276.2_3'UTR|GDPD5_ENST00000336898.3_Missense_Mutation_p.R526Q|GDPD5_ENST00000533784.1_Missense_Mutation_p.R407Q|GDPD5_ENST00000376282.3_Missense_Mutation_p.R407Q			Q8WTR4	GDPD5_HUMAN	glycerophosphodiester phosphodiesterase domain containing 5	526	GDPD.				glycerol metabolic process|lipid metabolic process|nervous system development	endomembrane system|growth cone|integral to membrane|perinuclear region of cytoplasm	glycerophosphodiester phosphodiesterase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|skin(2)	20						GTTGTAGCTCCGTATGCCACC	0.607													T	75148073	C	T	75148073	3	4	481	1	0	0	0	0	1	0	0	0	6383	652	23	1	248	1	GDPD5	11	75148073	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		75148073	59858443	13	44850											
OR10G4	390264	broad.mit.edu	37	chr11	123886809	123886809	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaccagatccagcactaCttctgtgacgcaccgcccat	10	7	6	18	2	1	2	0	1	1	1	2	2	2	2	5	0	3	2	5	0	2	2	rs3017763		TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr11:123886809C>T	ENST00000320891.4	+	1	528	c.528C>T	c.(526-528)taC>taT	p.Y176Y		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	176					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCAGCACTACTTCTGTGACG	0.557													T	123886809	C	T	123886809	2	4	481	1	0	0	0	0	0	0	0	1	10977	576	20	2		2	OR10G4	11	123886809	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	48738736	123886809	11119707	14	44851											
DPY19L2	283417	broad.mit.edu	37	chr12	64057543	64057543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaagaaacctaaccatttCagtgcgaaaagtcatctccc	16	8	6	11	1	3	2	2	0	1	2	4	3	3	2	3	0	3	0	3	0	6	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:64057543C>T	ENST00000324472.4	-	3	628	c.445G>A	c.(445-447)Gaa>Aaa	p.E149K	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	149					multicellular organismal development|spermatid development	integral to membrane		p.E149*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CTAACCATTTCAGTGCGAAAA	0.333													T	64057543	C	T	64057543	3	4	481	1	0	0	0	0	1	0	0	0	4780	835	29	2	1911	2	DPY19L2	12	64057543	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		64057543	69794352	15	44852											
TMEM19	55266	broad.mit.edu	37	chr12	72091160	72091160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccggggaaatcccagtCgatttttccaagcagtactc	9	9	10	13	2	0	0	0	0	0	0	4	2	2	1	4	3	2	2	4	3	3	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr12:72091160C>T	ENST00000266673.5	+	4	1077	c.483C>T	c.(481-483)gtC>gtT	p.V161V	TMEM19_ENST00000549735.1_Silent_p.V161V|RP11-293I14.2_ENST00000548802.1_3'UTR	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	161						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		AAATCCCAGTCGATTTTTCCA	0.532													T	72091160	C	T	72091160	2	4	481	1	0	0	0	0	0	0	0	1	16213	871	31	1		1	TMEM19	12	72091160	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	8033617	72091160	61760735	16	44853											
MYO5C	55930	broad.mit.edu	37	chr15	52537632	52537632	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcttggtcatgagaatgccGtagcgactgtagaactcgat	10	11	12	8	3	1	2	1	1	0	2	2	5	1	2	1	1	4	3	1	1	4	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr15:52537632G>A	ENST00000261839.7	-	18	2258	c.2097C>T	c.(2095-2097)taC>taT	p.Y699Y	MYO5C_ENST00000443683.2_3'UTR	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	699	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		TGAGAATGCCGTAGCGACTGT	0.507													A	52537632	G	A	52537632	2	1	481	1	0	0	0	0	0	0	0	1	10156	1140	40	1		1	MYO5C	15	52537632	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08		52537632	49993760	17	44854											
CNTNAP4	85445	broad.mit.edu	37	chr16	76482070	76482070	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatggagatcacatcacaCtgcaattaagaagagcaaga	19	6	8	8	0	2	4	2	0	0	4	2	5	2	4	0	1	2	2	0	1	5	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr16:76482070C>T	ENST00000307431.8	+	6	1082	c.697C>T	c.(697-699)Ctg>Ttg	p.L233L	CNTNAP4_ENST00000478060.1_Silent_p.L209L|CNTNAP4_ENST00000476707.1_Silent_p.L237L|CNTNAP4_ENST00000377504.4_Silent_p.L233L|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	234	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TCACATCACACTGCAATTAAG	0.368													T	76482070	C	T	76482070	2	4	481	1	0	0	0	0	0	0	0	1	3680	564	20	2		2	CNTNAP4	16	76482070	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08		76482070	13872683	18	44855											
ZZEF1	23140	broad.mit.edu	37	chr17	3924509	3924509	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccagggctgctgactggccGttccacctcttcctctcggt	3	11	11	16	2	2	1	0	1	2	0	5	1	4	1	5	3	1	3	5	3	0	2	rs146431554	byFrequency	TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:3924509G>A	ENST00000381638.2	-	45	7442	c.7318C>T	c.(7318-7320)Cgg>Tgg	p.R2440W		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2440							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGACTGGCCGTTCCACCTCT	0.557													A	3924509	G	A	3924509	3	1	481	1	0	0	0	0	1	0	0	0	18352	1144	40	1	1611	1	ZZEF1	17	3924509	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		3924509	77270701	19	44856											
DNAH9	1770	broad.mit.edu	37	chr17	11554444	11554444	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagatgaaacacatgcCtgagacagcagcagccatgt	15	5	11	10	0	0	4	0	2	0	3	0	6	0	4	2	0	5	2	2	0	1	0			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:11554444C>A	ENST00000262442.4	+	13	2224	c.2156C>A	c.(2155-2157)cCt>cAt	p.P719H	DNAH9_ENST00000454412.2_Missense_Mutation_p.P719H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AAACACATGCCTGAGACAGCA	0.433													A	11554444	C	A	11554444	3	1	481	1	0	0	0	0	1	0	0	0	4647	681	24	4	2206	4	DNAH9	17	11554444	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	7629935	11554444	69640766	20	44857											
UTS2R	2837	broad.mit.edu	37	chr17	80332481	80332481	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtctacgtggtcaacctggCgctggccgacctgctgtacc	5	9	12	15	4	2	0	1	0	1	0	2	1	2	0	4	3	4	3	4	3	3	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr17:80332481C>T	ENST00000313135.2	+	1	329	c.281C>T	c.(280-282)gCg>gTg	p.A94V		NM_018949.1	NP_061822.1	Q9UKP6	UR2R_HUMAN	urotensin 2 receptor	94						integral to membrane|plasma membrane				breast(1)|endometrium(4)|kidney(1)|lung(2)	8	Breast(20;0.00106)|all_neural(118;0.0804)		OV - Ovarian serous cystadenocarcinoma(97;0.00928)|BRCA - Breast invasive adenocarcinoma(99;0.0833)			GTCAACCTGGCGCTGGCCGAC	0.662													T	80332481	C	T	80332481	3	4	481	1	0	0	0	0	1	0	0	0	17208	768	27	1	283	1	UTS2R	17	80332481	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	68778037	80332481	862729	21	44858											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522													G	9090831	A	G	9090831	2	3	481	1	0	0	0	0	0	0	0	1	10049	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-FG-7638-01B-11D-2086-08		9090831	50038152	22	44859											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	481	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08	33700926	42791757	16337226	23	44860											
CIC	23152	broad.mit.edu	37	chr19	42793431	42793431	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggaggtgccttggcGgccactgggcggcccccgct	3	6	19	13	3	0	1	0	1	0	0	0	2	0	2	4	7	1	1	4	7	0	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:42793431G>A	ENST00000572681.2	+	9	4028	c.3960G>A	c.(3958-3960)gcG>gcA	p.A1320A	CIC_ENST00000160740.3_Silent_p.A411A|CIC_ENST00000575354.2_Silent_p.A411A			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	411					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTGCCTTGGCGGCCACTGGGC	0.637			"Mis, F, S"		oligodendroglioma								A	42793431	G	A	42793431	2	1	481	1	0	0	0	0	0	0	0	1	3454	1103	39	1		1	CIC	19	42793431	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	1674	42793431	16335552	24	44861											
KIR2DL1	3802	broad.mit.edu	37	chr19	55285075	55285075	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaccctctggacatcGtgatcataggtgagagtgtc	9	10	12	10	1	2	3	1	3	1	1	4	5	2	4	2	2	0	0	2	2	1	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr19:55285075G>A	ENST00000336077.6	+	3	401	c.361G>A	c.(361-363)Gtg>Atg	p.V121M	KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V121M	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	121					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		TCTGGACATCGTGATCATAGG	0.517													A	55285075	G	A	55285075	3	1	481	1	0	0	0	0	1	0	0	0	8374	1145	40	1	371	1	KIR2DL1	19	55285075	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	12491644	55285075	3843908	25	44862											
THOC5	8563	broad.mit.edu	37	chr22	29913039	29913039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtgcccctttcgatgagcgCcatgtagtagagattggtgt	7	13	13	8	2	0	2	0	1	0	1	1	4	0	2	3	1	2	2	3	1	2	4			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:29913039C>T	ENST00000490103.1	-	17	1782	c.1660G>A	c.(1660-1662)Gcg>Acg	p.A554T	THOC5_ENST00000397872.1_Missense_Mutation_p.A554T|THOC5_ENST00000397873.2_Missense_Mutation_p.A554T|CTA-256D12.11_ENST00000411969.1_RNA|THOC5_ENST00000397871.1_Missense_Mutation_p.A554T	NM_003678.4	NP_003669.4	Q13769	THOC5_HUMAN	THO complex 5	554					intronless viral mRNA export from host nucleus|monocyte differentiation|mRNA processing|primitive hemopoiesis|RNA splicing	cytoplasm|intermediate filament cytoskeleton|THO complex part of transcription export complex	protein binding|RNA binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCGATGAGCGCCATGTAGTAG	0.537													T	29913039	C	T	29913039	3	4	481	1	0	0	0	0	1	0	0	0	15968	739	26	2	407	2	THOC5	22	29913039	Missense_Mutation	SNP	C	TCGA-FG-7638-01B-11D-2086-08		29913039	21391527	26	44863											
DDX17	10521	broad.mit.edu	37	chr22	38890935	38890935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatctggggttcaaaccccaTatcaagcattctgtcagctt	10	12	8	11	0	5	0	3	0	2	0	5	1	5	0	2	2	3	3	2	2	3	4			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chr22:38890935T>C	ENST00000396821.3	-	7	1096	c.997A>G	c.(997-999)Atg>Gtg	p.M333V	DDX17_ENST00000432525.1_5'UTR|DDX17_ENST00000381633.3_Missense_Mutation_p.M254V	NM_001098504.1|NM_006386.4	NP_001091974|NP_006377.2	Q92841	DDX17_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 17	254	Helicase C-terminal.				RNA processing	nucleus	ATP binding|ATP-dependent helicase activity|RNA binding|RNA helicase activity|RNA-dependent ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	25	Melanoma(58;0.0286)					TCAAACCCCATATCAAGCATT	0.433													C	38890935	T	C	38890935	3	2	481	1	0	0	0	0	1	0	0	0	4378	1406	49	3	1226	3	DDX17	22	38890935	Missense_Mutation	SNP	T	TCGA-FG-7638-01B-11D-2086-08	8977896	38890935	12413631	27	44864											
KAL1	3730	broad.mit.edu	37	chrX	8503844	8503844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagctagcaccttagaaaGaacatgacctgcagcaatgc	14	8	8	11	0	0	3	0	1	0	2	0	3	0	3	2	0	6	4	2	0	6	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:8503844G>T	ENST00000262648.3	-	12	1779	c.1630C>A	c.(1630-1632)Ctt>Att	p.L544I	KAL1_ENST00000481896.1_5'UTR	NM_000216.2	NP_000207.2	P23352	KALM_HUMAN	Kallmann syndrome 1 sequence	544					axon guidance|cell adhesion|cellular component movement	extracellular space|plasma membrane|proteinaceous extracellular matrix	extracellular matrix structural constituent|heparin binding|serine-type endopeptidase inhibitor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(1)	32						ACCTTAGAAAGAACATGACCT	0.483													T	8503844	G	T	8503844	3	4	481	1	0	0	0	0	1	0	0	0	8032	942	33	4	424	4	KAL1	23	8503844	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08		8503844	146766716	28	44865											
USP11	8237	broad.mit.edu	37	chrX	47104794	47104794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgtgaagcatgactgcgtcgGgtacgtgatgaagaaggctc	10	8	15	8	4	0	5	0	4	0	1	2	5	0	5	0	2	3	3	0	2	4	1			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:47104794G>A	ENST00000377107.2	+	17	2537	c.2183G>A	c.(2182-2184)gGg>gAg	p.G728E	USP11_ENST00000218348.3_Missense_Mutation_p.G771E			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	771					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						GACTGCGTCGGGTACGTGATG	0.597													A	47104794	G	A	47104794	3	1	481	1	0	0	0	0	1	0	0	0	17144	1232	43	2	2378	2	USP11	23	47104794	Missense_Mutation	SNP	G	TCGA-FG-7638-01B-11D-2086-08	38600950	47104794	108165766	29	44866											
ATRX	546	broad.mit.edu	37	chrX	76937357	76937357	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttccctcaattctattcTtttcagtctcttatcagaag	8	19	3	11	0	7	1	3	0	4	1	9	1	8	1	1	0	0	0	1	0	4	7			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:76937357T>C	ENST00000373344.5	-	9	3605	c.3391A>G	c.(3391-3393)Aga>Gga	p.R1131G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.R1093G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1131					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)	AATTCTATTCTTTTCAGTCTC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76937357	T	C	76937357	3	2	481	1	0	0	0	0	1	0	0	0	1213	1617	56	3	4195	3	ATRX	23	76937357	Missense_Mutation	SNP	T	TCGA-FG-7638-01B-11D-2086-08	29832563	76937357	78333203	30	44867											
ARMCX2	9823	broad.mit.edu	37	chrX	100912542	100912542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctatcactatccccgcCgctacacagccagcatcccg	8	6	6	21	3	1	0	1	0	0	0	3	0	3	0	7	0	3	2	7	0	3	3			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:100912542C>T	ENST00000328766.5	-	5	486	c.33G>A	c.(31-33)gcG>gcA	p.A11A	ARMCX2_ENST00000356824.4_Silent_p.A11A|ARMCX2_ENST00000467416.1_5'UTR|ARMCX2_ENST00000330154.2_Silent_p.A11A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	11						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						CTATCCCCGCCGCTACACAGC	0.567													T	100912542	C	T	100912542	2	4	481	1	0	0	0	0	0	0	0	1	965	639	23	1		1	ARMCX2	23	100912542	Silent	SNP	C	TCGA-FG-7638-01B-11D-2086-08	23975185	100912542	54358018	31	44868											
FLNA	2316	broad.mit.edu	37	chrX	153593614	153593614	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtccttctgcttcacGcgctcctctccctctgccaa	4	11	6	20	2	4	0	1	0	3	0	7	0	6	0	5	1	2	2	5	1	1	2			TCGA-FG-7638-01B-11D-2086-08	TCGA-FG-7638-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	74d72784-51c3-4879-8e4d-62fabd342a30	e26e7062-cc3e-445b-8d2b-64726bfcc8ba	g.chrX:153593614G>A	ENST00000422373.1	-	11	1829	c.1581C>T	c.(1579-1581)cgC>cgT	p.R527R	FLNA_ENST00000369850.3_Silent_p.R527R|FLNA_ENST00000344736.4_Silent_p.R527R|FLNA_ENST00000360319.4_Silent_p.R527R	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	527					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTGCTTCACGCGCTCCTCTC	0.622													A	153593614	G	A	153593614	2	1	481	1	0	0	0	0	0	0	0	1	5982	1074	38	1		1	FLNA	23	153593614	Silent	SNP	G	TCGA-FG-7638-01B-11D-2086-08	52681072	153593614	1676946	32	44869											
SLC26A9	115019	broad.mit.edu	37	chr1	205887977	205887977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagaaccttaccccttggaaGttgtgtcctggggtcacgtc	8	11	11	11	1	1	1	1	0	0	1	3	2	2	2	4	3	2	1	4	3	4	3			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr1:205887977G>C	ENST00000367135.3	-	19	2360	c.2247C>G	c.(2245-2247)aaC>aaG	p.N749K	SLC26A9_ENST00000367134.2_Missense_Mutation_p.N749K|SLC26A9_ENST00000340781.4_Missense_Mutation_p.N749K	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	749						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CCCCTTGGAAGTTGTGTCCTG	0.502											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	205887977	G	C	205887977	3	2	482	1	0	0	0	0	1	0	0	0	14618	1020	36	4	436	4	SLC26A9	1	205887977	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		205887977	43362644	1	44870											
REV1	51455	broad.mit.edu	37	chr2	100079071	100079071	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatttctggaccttggcaGccatatacccaccctagaat	11	10	6	14	0	1	1	0	0	1	1	1	2	1	2	5	2	2	1	5	2	5	5			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:100079071G>A	ENST00000258428.3	-	3	296	c.68C>T	c.(67-69)gCt>gTt	p.A23V	REV1_ENST00000393445.3_Missense_Mutation_p.A23V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	23					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GACCTTGGCAGCCATATACCC	0.358								Direct reversal of damage					A	100079071	G	A	100079071	3	1	482	1	0	0	0	0	1	0	0	0	13327	971	34	2	3771	2	REV1	2	100079071	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		100079071	143120302	2	44871											
TNFAIP6	7130	broad.mit.edu	37	chr2	152226605	152226605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggcttcccaaatgagtacGaagataaccaaatctgctac	15	8	7	11	1	1	2	0	1	1	1	2	3	2	2	2	1	4	3	2	1	6	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:152226605G>A	ENST00000243347.3	+	4	541	c.466G>A	c.(466-468)Gaa>Aaa	p.E156K		NM_007115.3	NP_009046.2	P98066	TSG6_HUMAN	tumor necrosis factor, alpha-induced protein 6	156	CUB.				cell adhesion|cell-cell signaling|inflammatory response|signal transduction		hyaluronic acid binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.131)		AAATGAGTACGAAGATAACCA	0.388													A	152226605	G	A	152226605	3	1	482	1	0	0	0	0	1	0	0	0	16375	1059	37	1	480	1	TNFAIP6	2	152226605	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	52147534	152226605	90972768	3	44872											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	482	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	56886507	209113112	34086261	4	44873											
EPHA4	2043	broad.mit.edu	37	chr2	222321395	222321395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagctgctgtcctggctCgcacgtggaaaacataggaa	11	7	12	11	2	0	0	0	0	0	0	2	2	1	2	2	3	4	4	2	3	4	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr2:222321395C>T	ENST00000281821.2	-	7	1582	c.1541G>A	c.(1540-1542)cGa>cAa	p.R514Q	EPHA4_ENST00000409854.1_Missense_Mutation_p.R514Q|EPHA4_ENST00000392071.4_Missense_Mutation_p.R463Q|EPHA4_ENST00000409938.1_Missense_Mutation_p.R514Q	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	514	Fibronectin type-III 2.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		TGTCCTGGCTCGCACGTGGAA	0.512													T	222321395	C	T	222321395	3	4	482	1	0	0	0	0	1	0	0	0	5210	884	31	1	1463	1	EPHA4	2	222321395	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	13208283	222321395	20877978	5	44874											
HYAL3	8372	broad.mit.edu	37	chr3	50332974	50332974	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggacctgtggtaggggctgGccacaacccaggcacagggc	8	4	17	12	0	0	0	0	0	0	0	0	1	0	1	3	7	1	3	3	7	2	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:50332974G>A	ENST00000336307.1	-	2	332	c.60C>T	c.(58-60)ggC>ggT	p.G20G	HYAL3_ENST00000450982.1_Silent_p.G20G|HYAL3_ENST00000359051.3_Silent_p.G20G|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	20					carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTAGGGGCTGGCCACAACCCA	0.627													A	50332974	G	A	50332974	2	1	482	1	0	0	0	0	0	0	0	1	7523	1190	42	2		2	HYAL3	3	50332974	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08		50332974	147689456	6	44875											
ALDH1L1	10840	broad.mit.edu	37	chr3	125831636	125831636	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacttaccactctccgcaCgaactcatcatgaatggagt	12	9	8	12	2	3	1	2	1	1	0	4	4	3	3	2	2	2	1	2	2	3	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:125831636C>T	ENST00000393434.2	-	19	2519	c.2170G>A	c.(2170-2172)Gtg>Atg	p.V724M	ALDH1L1_ENST00000472186.1_Missense_Mutation_p.V724M|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.V623M|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.V734M	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	724	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACTCTCCGCACGAACTCATCA	0.577													T	125831636	C	T	125831636	3	4	482	1	0	0	0	0	1	0	0	0	494	536	19	1	558	1	ALDH1L1	3	125831636	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	75498662	125831636	72190794	7	44876											
SRPRB	58477	broad.mit.edu	37	chr3	133524790	133524790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaggagctgcagcagaCggacccaacgctgttgtcag	9	5	15	12	3	1	1	1	0	0	1	1	3	1	3	1	3	4	6	1	3	1	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr3:133524790C>T	ENST00000466490.2	+	2	383	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_021203.3	NP_067026.3	Q9Y5M8	SRPRB_HUMAN	signal recognition particle receptor, B subunit	33						endoplasmic reticulum membrane|integral to membrane	GTP binding|protein binding|receptor activity			breast(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(2)	12						CTGCAGCAGACGGACCCAACG	0.672													T	133524790	C	T	133524790	3	4	482	1	0	0	0	0	1	0	0	0	15259	536	19	1	100	1	SRPRB	3	133524790	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	7693154	133524790	64497640	8	44877											
HTRA3	94031	broad.mit.edu	37	chr4	8293208	8293208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacagtgacaacgggcatcGtcagcactgcccagcgggag	11	4	13	13	3	1	1	1	1	0	0	2	2	1	2	1	2	4	2	1	2	1	0			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:8293208G>A	ENST00000307358.2	+	4	1024	c.820G>A	c.(820-822)Gtc>Atc	p.V274I	HTRA3_ENST00000382512.3_Missense_Mutation_p.V274I	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	274	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						AACGGGCATCGTCAGCACTGC	0.632													A	8293208	G	A	8293208	3	1	482	1	0	0	0	0	1	0	0	0	7513	1145	40	1	834	1	HTRA3	4	8293208	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08		8293208	182861068	9	44878											
FRAS1	80144	broad.mit.edu	37	chr4	79421075	79421075	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcttgaagttcagtcccGgtaattgaatgccaacctca	11	11	9	10	1	3	2	2	2	1	0	4	3	4	2	3	1	2	2	3	1	4	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr4:79421075G>A	ENST00000264895.6	+	61	9756	c.9316G>A	c.(9316-9318)Ggt>Agt	p.G3106S		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3101	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						GTTCAGTCCCGGTAATTGAAT	0.443													A	79421075	G	A	79421075	5	1	482	1	0	0	0	0	0	0	1	0	6093	1130	39	1	9633	1	FRAS1	4	79421075	Splice_Site	SNP	G	TCGA-FG-7641-01B-11D-2253-08	71127867	79421075	111733201	10	44879											
DNAH5	1767	broad.mit.edu	37	chr5	13766101	13766101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacctgtaagttctgtaaaAagttccctgcagtcatcaat	13	12	6	10	0	3	0	2	0	1	0	4	0	4	0	2	0	2	5	2	0	6	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:13766101A>G	ENST00000265104.4	-	59	10189	c.10085T>C	c.(10084-10086)tTt>tCt	p.F3362S	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3362	Stalk (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GTTCTGTAAAAAGTTCCCTGC	0.413									Kartagener syndrome				G	13766101	A	G	13766101	3	3	482	1	0	0	0	0	1	0	0	0	4643	14	1	3	3873	3	DNAH5	5	13766101	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		13766101	167149159	11	44880											
VCAN	1462	broad.mit.edu	37	chr5	82849281	82849281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagctgaacgggaatgcCgtctgcagggtgcccatctc	8	8	13	12	2	2	1	0	1	2	0	3	2	2	2	2	2	6	3	2	2	2	0			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:82849281C>T	ENST00000265077.3	+	11	10157	c.9592C>T	c.(9592-9594)Cgt>Tgt	p.R3198C	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000502527.2_Missense_Mutation_p.R457C|VCAN_ENST00000512590.2_Missense_Mutation_p.R1396C|VCAN_ENST00000343200.5_Missense_Mutation_p.R2211C|VCAN_ENST00000342785.4_Missense_Mutation_p.R1444C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3198	C-type lectin.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding	p.R3198S(1)		NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		ACGGGAATGCCGTCTGCAGGG	0.473													T	82849281	C	T	82849281	3	4	482	1	0	0	0	0	1	0	0	0	17240	652	23	1	9630	1	VCAN	5	82849281	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	69083180	82849281	98065979	12	44881											
C5orf20	140947	broad.mit.edu	37	chr5	134782790	134782790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatgtgggttgctgctccGtaatgcatagttgggggacc	6	13	15	7	1	0	0	0	0	0	0	1	1	1	1	2	3	3	7	2	3	3	5	rs113239442		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:134782790G>A	ENST00000503143.2	-	1	248	c.9C>T	c.(7-9)taC>taT	p.Y3Y	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	3						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TTGCTGCTCCGTAATGCATAG	0.527													A	134782790	G	A	134782790	2	1	482	1	0	0	0	0	0	0	0	1	2306	1140	40	1		1	C5orf20	5	134782790	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08	51933509	134782790	46132470	13	44882											
PCDHB5	26167	broad.mit.edu	37	chr5	140516689	140516689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggacgccaacgacaactcgcCcttcgtgctgtatccgctgc	7	8	10	16	5	0	0	0	0	0	0	3	2	1	1	3	1	4	3	3	1	3	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr5:140516689C>T	ENST00000231134.5	+	1	1890	c.1673C>T	c.(1672-1674)cCc>cTc	p.P558L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		558	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GACAACTCGCCCTTCGTGCTG	0.716													T	140516689	C	T	140516689	3	4	482	1	0	0	0	0	1	0	0	0	11621	623	22	2	1675	2	PCDHB5	5	140516689	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	5733899	140516689	40398571	14	44883											
MAS1L	116511	broad.mit.edu	37	chr6	29454624	29454624	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggttgctccattgggtcGatgccagctgcctttttgtt	3	17	12	9	1	0	0	0	0	0	0	2	1	1	0	3	2	4	4	3	2	0	5	rs148359929	byFrequency	TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:29454624G>A	ENST00000377127.3	-	1	1114	c.1056C>T	c.(1054-1056)atC>atT	p.I352I		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 oncogene-like	352						cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						CCATTGGGTCGATGCCAGCTG	0.517													A	29454624	G	A	29454624	2	1	482	1	0	0	0	0	0	0	0	1	9396	1048	37	1		1	MAS1L	6	29454624	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08		29454624	141660443	15	44884											
RHAG	6005	broad.mit.edu	37	chr6	49583402	49583402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcccctttctcagtccaGatcgatacaagatgcctgct	9	11	7	14	1	1	2	1	0	1	2	4	3	2	2	4	0	4	1	4	0	2	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:49583402G>T	ENST00000371175.4	-	4	601	c.575C>A	c.(574-576)tCt>tAt	p.S192Y	RHAG_ENST00000229810.7_Missense_Mutation_p.S192Y	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	192					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					TCTCAGTCCAGATCGATACAA	0.453													T	49583402	G	T	49583402	3	4	482	1	0	0	0	0	1	0	0	0	13404	942	33	4	682	4	RHAG	6	49583402	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	20128778	49583402	121531665	16	44885											
GSTA3	2940	broad.mit.edu	37	chr6	52767170	52767170	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctcctttatgtctttcccGtagaggttgtatttgctggc	4	18	9	10	1	2	1	0	0	2	1	4	1	3	1	2	2	1	4	2	2	3	7	rs147033582		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:52767170G>A	ENST00000211122.3	-	4	311	c.246C>T	c.(244-246)taC>taT	p.Y82Y	GSTA3_ENST00000370968.1_Silent_p.Y32Y	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	82	GST N-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	TGTCTTTCCCGTAGAGGTTGT	0.448													A	52767170	G	A	52767170	2	1	482	1	0	0	0	0	0	0	0	1	6887	1140	40	1		1	GSTA3	6	52767170	Silent	SNP	G	TCGA-FG-7641-01B-11D-2253-08	3183768	52767170	118347897	17	44886											
TTK	7272	broad.mit.edu	37	chr6	80749925	80749925	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatagtgttgtttaaaaAgggacccaaaacagaggata	17	11	9	4	0	0	1	0	0	0	1	0	3	0	3	1	2	1	2	1	2	8	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:80749925A>G	ENST00000509894.1	+	20	3146	c.2317A>G	c.(2317-2319)Agg>Ggg	p.R773G	TTK_ENST00000230510.3_Missense_Mutation_p.R773G|TTK_ENST00000369798.2_Missense_Mutation_p.R774G			P33981	TTK_HUMAN	TTK protein kinase	774	Protein kinase.				mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		TTGTTTAAAAAGGGACCCAAA	0.284													G	80749925	A	G	80749925	3	3	482	1	0	0	0	0	1	0	0	0	16822	63	3	3	2394	3	TTK	6	80749925	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	27982755	80749925	90365142	18	44887											
IL20RA	53832	broad.mit.edu	37	chr6	137322781	137322781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcctggtggcctgtctggagCcggctcctcatagagtctag	5	11	13	12	1	3	1	1	0	2	1	5	2	5	2	4	4	1	1	4	4	2	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr6:137322781C>T	ENST00000367748.1	-	6	1829	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	IL20RA_ENST00000541547.1_Missense_Mutation_p.A477T|IL20RA_ENST00000316649.5_Missense_Mutation_p.A526T	NM_001278723.1	NP_001265652.1	Q9UHF4	I20RA_HUMAN	interleukin 20 receptor, alpha	526						integral to membrane	receptor activity			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000351)|OV - Ovarian serous cystadenocarcinoma(155;0.00459)		CTGTCTGGAGCCGGCTCCTCA	0.527													T	137322781	C	T	137322781	3	4	482	1	0	0	0	0	1	0	0	0	7726	739	26	2	89	2	IL20RA	6	137322781	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	56572856	137322781	33792286	19	44888											
PARP12	64761	broad.mit.edu	37	chr7	139734111	139734111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttttagttgtgccatagaCcaggtttttctgaacgaagg	9	15	10	7	1	1	2	0	1	1	1	1	3	1	2	2	2	2	2	2	2	4	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr7:139734111C>T	ENST00000263549.3	-	8	2218	c.1345G>A	c.(1345-1347)Gtc>Atc	p.V449I	PARP12_ENST00000470515.1_5'UTR	NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	449	WWE 2.			VQKNLVY -> MGGFGQH (in Ref. 4).		nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					GTGCCATAGACCAGGTTTTTC	0.418													T	139734111	C	T	139734111	3	4	482	1	0	0	0	0	1	0	0	0	11533	507	18	2	780	2	PARP12	7	139734111	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08		139734111	19404552	20	44889											
MCPH1	79648	broad.mit.edu	37	chr8	6479212	6479212	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgagaaatgggtcttaGgtaagaatccaggcacacag	13	9	12	7	0	2	2	0	1	2	2	3	3	3	2	1	3	0	2	1	3	4	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:6479212G>A	ENST00000344683.5	+	13	2528	c.2452G>A	c.(2452-2454)Gat>Aat	p.D818N	MCPH1_ENST00000521175.1_3'UTR|CTD-2541M15.1_ENST00000515608.1_RNA|CTD-2541M15.1_ENST00000522897.1_RNA	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	818	BRCT 3.					microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		ATGGGTCTTAGGTAAGAATCC	0.597													A	6479212	G	A	6479212	5	1	482	1	0	0	0	0	0	0	1	0	9473	1014	35	2	2510	2	MCPH1	8	6479212	Splice_Site	SNP	G	TCGA-FG-7641-01B-11D-2253-08		6479212	139884810	21	44890											
KCNB2	9312	broad.mit.edu	37	chr8	73480147	73480147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacaggctgcccaggacgCgcctggggaagcttcgagac	8	5	16	12	3	0	1	0	0	0	1	1	5	0	4	2	5	2	2	2	5	1	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr8:73480147C>T	ENST00000523207.1	+	2	766	c.178C>T	c.(178-180)Cgc>Tgc	p.R60C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	60					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GCCCAGGACGCGCCTGGGGAA	0.542													T	73480147	C	T	73480147	3	4	482	1	0	0	0	0	1	0	0	0	8071	768	27	1	180	1	KCNB2	8	73480147	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	67000935	73480147	72883875	22	44891											
PTER	9317	broad.mit.edu	37	chr10	16526578	16526578	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggattcagaaaaacgcctaTtcccataaagaaaaccttca	17	9	5	10	1	2	2	2	0	0	2	3	3	3	3	3	1	2	0	3	1	7	5			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr10:16526578T>C	ENST00000378000.1	+	3	441	c.195T>C	c.(193-195)taT>taC	p.Y65Y	PTER_ENST00000535784.2_Silent_p.Y65Y|PTER_ENST00000298942.3_Silent_p.Y65Y|PTER_ENST00000423462.2_Silent_p.Y65Y	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	65					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						AAAACGCCTATTCCCATAAAG	0.403													C	16526578	T	C	16526578	2	2	482	1	0	0	0	0	0	0	0	1	12824	1500	52	3		3	PTER	10	16526578	Silent	SNP	T	TCGA-FG-7641-01B-11D-2253-08		16526578	119008169	23	44892											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100502164	100502164	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagatatcaaagtctcacCctaatggacgctttattaca	14	11	5	11	1	2	1	2	0	1	1	3	2	2	2	1	1	1	1	1	1	5	5			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:100502164C>T	ENST00000279907.7	-	2	419	c.207G>A	c.(205-207)agG>agA	p.R69R	UHRF1BP1L_ENST00000356828.3_Splice_Site_p.R69R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	69										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						AAAGTCTCACCCTAATGGACG	0.338													T	100502164	C	T	100502164	5	4	482	1	0	0	0	0	0	0	1	0	17071	637	22	2	4291	2	UHRF1BP1L	12	100502164	Splice_Site	SNP	C	TCGA-FG-7641-01B-11D-2253-08		100502164	33349731	24	44893											
PTPN11	5781	broad.mit.edu	37	chr12	112888139	112888139	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaagaaatggagctgtcaCccacatcaagattcagaaca	17	7	8	9	0	3	4	3	0	0	4	3	5	3	5	1	1	2	1	1	1	5	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:112888139C>G	ENST00000351677.2	+	3	353	c.155C>G	c.(154-156)aCc>aGc	p.T52S	PTPN11_ENST00000392597.1_Missense_Mutation_p.T52S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	52	SH2 1.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.T52S(2)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGAGCTGTCACCCACATCAAG	0.433			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				G	112888139	C	G	112888139	3	3	482	1	0	0	0	0	1	0	0	0	12866	507	18	4	165	4	PTPN11	12	112888139	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	12385975	112888139	20963756	25	44894											
SCARB1	949	broad.mit.edu	37	chr12	125263027	125263028	+	Frame_Shift_Ins	INS	-	-	G																															gaggctcaggctgtggggctINSggggggctgtccgctgggag																										TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr12:125263027_125263028insG	ENST00000339570.5	-	12	1702_1703	c.1506_1507insC	c.(1504-1509)cccagcfs	p.S503fs	SCARB1_ENST00000376788.1_3'UTR|SCARB1_ENST00000261693.6_3'UTR|SCARB1_ENST00000415380.2_3'UTR	NM_001082959.1	NP_001076428.1	Q8WTV0	SCRB1_HUMAN	scavenger receptor class B, member 1	0					adhesion to symbiont|cell adhesion|cholesterol efflux|cholesterol homeostasis|cholesterol import|detection of lipopolysaccharide|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|lipopolysaccharide transport|lipoprotein metabolic process|positive regulation of cholesterol storage|positive regulation of endothelial cell migration|positive regulation of nitric-oxide synthase activity|recognition of apoptotic cell|reverse cholesterol transport|triglyceride homeostasis|wound healing	caveola	1-phosphatidylinositol binding|apolipoprotein A-I binding|high-density lipoprotein particle receptor activity|lipopolysaccharide receptor activity|low-density lipoprotein particle binding|phosphatidylserine binding|transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|prostate(1)	17	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000116)|Epithelial(86;0.000415)|all cancers(50;0.00395)	Phosphatidylserine(DB00144)	GCTGTGGGGCTGGGGGGCTGTC	0.683													G	125263028	-	G	125263027	7	5	482	1	0	1	1	0	0	0	0	0	13973	1580	55	0	17	0	SCARB1	12	125263027	Frame_Shift_Ins	INS	-	TCGA-FG-7641-01B-11D-2253-08	12374888	125263027	8588868	26	44895											
RBM26	64062	broad.mit.edu	37	chr13	79945160	79945160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctctctttactccaacttCgacttcgactcctgctataa	8	14	4	15	2	1	0	0	0	1	0	6	2	3	0	3	0	3	1	3	0	4	6			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr13:79945160C>T	ENST00000438737.2	-	5	994	c.554G>A	c.(553-555)cGa>cAa	p.R185Q	RBM26_ENST00000267229.7_Missense_Mutation_p.R185Q|RBM26_ENST00000438724.1_Missense_Mutation_p.R185Q			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	185	Arg-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		ACTCCAACTTCGACTTCGACT	0.453													T	79945160	C	T	79945160	3	4	482	1	0	0	0	0	1	0	0	0	13214	884	31	1	2456	1	RBM26	13	79945160	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08		79945160	35224718	27	44896											
FAM179B	23116	broad.mit.edu	37	chr14	45542633	45542633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaaatatacgaacagccAcagctaaattatcaaaagca	20	6	7	8	1	1	0	1	0	0	0	1	3	1	1	1	1	5	2	1	1	9	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr14:45542633A>G	ENST00000361462.2	+	20	5374	c.5191A>G	c.(5191-5193)Aca>Gca	p.T1731A	FAM179B_ENST00000361577.3_Missense_Mutation_p.T1678A|FAM179B_ENST00000382233.2_3'UTR			Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	1678							binding			endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						ACGAACAGCCACAGCTAAATT	0.418													G	45542633	A	G	45542633	3	3	482	1	0	0	0	0	1	0	0	0	5551	159	6	3	5106	3	FAM179B	14	45542633	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		45542633	61806907	28	44897											
C15orf52	388115	broad.mit.edu	37	chr15	40631782	40631782	+	Frame_Shift_Del	DEL	C	C	-																															gctggtgtggtcacagccatCcccccctgctctgcctgccg																										TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr15:40631782delC	ENST00000559313.1	-	3	309	c.294delG	c.(292-294)gggfs	p.G98fs		NM_207380.2	NP_997263.2	Q6ZUT6	CO052_HUMAN	chromosome 15 open reading frame 52	98								p.M99fs*3(1)		central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|urinary_tract(1)	19		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.06e-06)|Colorectal(105;0.0107)|BRCA - Breast invasive adenocarcinoma(123;0.0505)|READ - Rectum adenocarcinoma(2;0.0649)|Lung(196;0.0781)|LUAD - Lung adenocarcinoma(183;0.0841)		TCACAGCCATCCCCCCCTGCT	0.647													-	40631782	C	-	40631782	7	5	482	1	0	1	0	1	0	0	0	0	1813	842	30	0	1346	0	C15orf52	15	40631782	Frame_Shift_Del	DEL	C	TCGA-FG-7641-01B-11D-2253-08		40631782	61899610	29	44898											
GRIN2A	2903	broad.mit.edu	37	chr16	9934822	9934822	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattccattccacacattgtTaactttcttgccatgcttcc	8	16	3	14	0	1	0	0	0	1	0	4	0	4	0	4	0	3	2	4	0	1	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:9934822T>A	ENST00000396573.2	-	7	1777	c.1468A>T	c.(1468-1470)Aac>Tac	p.N490Y	GRIN2A_ENST00000330684.3_Missense_Mutation_p.N490Y|GRIN2A_ENST00000396575.2_Missense_Mutation_p.N490Y|GRIN2A_ENST00000562109.1_Missense_Mutation_p.N490Y|GRIN2A_ENST00000535259.1_Missense_Mutation_p.N333Y|GRIN2A_ENST00000404927.2_Missense_Mutation_p.N490Y	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	490					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CACACATTGTTAACTTTCTTG	0.443													A	9934822	T	A	9934822	3	1	482	1	0	0	0	0	1	0	0	0	6834	1754	61	5	2958	5	GRIN2A	16	9934822	Missense_Mutation	SNP	T	TCGA-FG-7641-01B-11D-2253-08		9934822	80419931	30	44899											
CCDC113	29070	broad.mit.edu	37	chr16	58296338	58296338	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttgattttcagcagttgaAgatagagaacgctcaatttc	12	14	9	6	1	2	4	2	2	0	2	3	5	2	4	0	0	2	4	0	0	4	6			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr16:58296338A>G	ENST00000219299.4	+	6	756	c.677A>G	c.(676-678)aAg>aGg	p.K226R	CCDC113_ENST00000443128.2_Missense_Mutation_p.K172R	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	226						protein complex				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						CAGCAGTTGAAGATAGAGAAC	0.428													G	58296338	A	G	58296338	3	3	482	1	0	0	0	0	1	0	0	0	2776	72	3	3	699	3	CCDC113	16	58296338	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	48361516	58296338	32058415	31	44900											
NUP88	4927	broad.mit.edu	37	chr17	5312118	5312118	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataagatgtacagtgggtaTgccactacttcatctttgcc	10	14	8	9	0	2	1	1	0	1	1	2	1	2	1	2	1	4	2	2	1	5	7			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:5312118T>A	ENST00000573584.1	-	5	1301	c.792A>T	c.(790-792)gcA>gcT	p.A264A		NM_002532.4	NP_002523.2	Q99567	NUP88_HUMAN	nucleoporin 88kDa	264					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	transporter activity			endometrium(4)|kidney(4)|large_intestine(4)|lung(3)	15						ACAGTGGGTATGCCACTACTT	0.448													A	5312118	T	A	5312118	2	1	482	1	0	0	0	0	0	0	0	1	10847	1451	51	5		5	NUP88	17	5312118	Silent	SNP	T	TCGA-FG-7641-01B-11D-2253-08		5312118	75883092	32	44901											
DNAH9	1770	broad.mit.edu	37	chr17	11671916	11671916	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccaagctcgtcccccagttCgaatttgaccccgagatgcc	8	9	8	16	3	0	2	0	1	0	1	4	4	2	2	6	0	2	2	6	0	2	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:11671916C>T	ENST00000262442.4	+	37	7385	c.7317C>T	c.(7315-7317)ttC>ttT	p.F2439F	DNAH9_ENST00000454412.2_Silent_p.F2439F	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TCCCCCAGTTCGAATTTGACC	0.542													T	11671916	C	T	11671916	2	4	482	1	0	0	0	0	0	0	0	1	4647	883	31	1		1	DNAH9	17	11671916	Silent	SNP	C	TCGA-FG-7641-01B-11D-2253-08	6359798	11671916	69523294	33	44902											
TEX14	56155	broad.mit.edu	37	chr17	56690826	56690826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgccgatagtgatgcgctCgtacacaaggcgggttttct	7	12	13	9	4	1	1	0	1	1	0	2	2	1	1	1	2	3	3	1	2	3	4			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:56690826C>T	ENST00000389934.3	-	9	1078	c.961G>A	c.(961-963)Gag>Aag	p.E321K	TEX14_ENST00000349033.5_Missense_Mutation_p.E321K|TEX14_ENST00000240361.8_Missense_Mutation_p.E327K	NM_001201457.1|NM_198393.3	NP_001188386.1|NP_938207.2	Q8IWB6	TEX14_HUMAN	testis expressed 14	327	Protein kinase.		K -> E (in a gastric adenocarcinoma sample; somatic mutation).			cytoplasm	ATP binding|protein kinase activity	p.E321K(1)		breast(6)|endometrium(5)|kidney(3)|large_intestine(22)|liver(1)|lung(24)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	81	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GTGATGCGCTCGTACACAAGG	0.502													T	56690826	C	T	56690826	3	4	482	1	0	0	0	0	1	0	0	0	15878	893	31	1	3614	1	TEX14	17	56690826	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	45018910	56690826	24504384	34	44903											
CACNG5	27091	broad.mit.edu	37	chr17	64880891	64880891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaccattttggaccccggAccacccactctacttccctt	9	10	4	18	1	1	0	0	0	1	0	2	2	2	2	6	2	2	0	6	2	2	5			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:64880891A>G	ENST00000169565.3	+	4	683	c.683A>G	c.(682-684)gAc>gGc	p.D228G	CACNG5_ENST00000307139.3_Intron|CACNG5_ENST00000533854.1_Intron			Q9UF02	CCG5_HUMAN	calcium channel, voltage-dependent, gamma subunit 5	0				SAGVMSVYLFMKRYTAEDMYRPHPGFYRPRLSNCSDYSGQF LHPDAWVRGRSPSDISSEASLQMNSNYPALLKCPDYDQMSS SPC -> VKPVTLSMDRLGLGTAPLSRGEWGWGRRDIPQPF WTPDHPLYFPSSSQNVSLSYLSGSPPARMSPGPCSCPHVHF PPHSSCVLCRPQPREMRQAPAASPSSAVFSL (in Ref. 1; AAF03089).	regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|postsynaptic density|postsynaptic membrane	voltage-gated calcium channel activity			NS(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	24			BRCA - Breast invasive adenocarcinoma(6;1.61e-08)			TGGACCCCGGACCACCCACTC	0.602													G	64880891	A	G	64880891	3	3	482	1	0	0	0	0	1	0	0	0	2586	275	10	3	697	3	CACNG5	17	64880891	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	8190065	64880891	16314319	35	44904											
TMC6	11322	broad.mit.edu	37	chr17	76109646	76109646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctgctcctctcctccctCtccttcctctcgtagatgga	4	13	5	19	1	3	1	0	0	3	1	9	2	6	2	6	1	1	2	6	1	1	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr17:76109646C>T	ENST00000590602.1	-	19	2496	c.2337G>A	c.(2335-2337)gaG>gaA	p.E779E	TMC6_ENST00000306591.7_Silent_p.E428E|TMC6_ENST00000322933.4_Silent_p.E358E|TMC6_ENST00000592076.1_5'UTR|TMC6_ENST00000322914.3_Silent_p.E779E|TMC6_ENST00000392467.3_Silent_p.E779E|TMC6_ENST00000591436.1_Silent_p.E358E			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	779						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			TCTCCTCCCTCTCCTTCCTCT	0.567													T	76109646	C	T	76109646	2	4	482	1	0	0	0	0	0	0	0	1	16089	912	32	2		2	TMC6	17	76109646	Silent	SNP	C	TCGA-FG-7641-01B-11D-2253-08	11228755	76109646	5085564	36	44905											
QTRT1	81890	broad.mit.edu	37	chr19	10823935	10823935	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctggcctctgtgggaatcAcactgggctgacctggcatt	6	11	12	12	0	3	1	1	1	2	0	3	2	3	2	2	4	0	2	2	4	1	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:10823935A>T	ENST00000250237.5	+	10	1211	c.1201A>T	c.(1201-1203)Aca>Tca	p.T401S		NM_031209.2	NP_112486.1	Q9BXR0	TGT_HUMAN	queuine tRNA-ribosyltransferase 1	401					queuosine biosynthetic process	mitochondrion|nucleus|ribosome	metal ion binding|queuine tRNA-ribosyltransferase activity			large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	12			Epithelial(33;1.55e-05)|all cancers(31;3.42e-05)			TGTGGGAATCACACTGGGCTG	0.577													T	10823935	A	T	10823935	3	4	482	1	0	0	0	0	1	0	0	0	12973	159	6	5	1239	5	QTRT1	19	10823935	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08		10823935	48305048	37	44906											
CIC	23152	broad.mit.edu	37	chr19	42791728	42791728	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacatccggcggcccatgaAtgccttcatgatcttcagca	9	9	8	15	2	3	2	2	2	1	0	4	2	4	2	4	2	2	1	4	2	1	2			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791728A>G	ENST00000572681.2	+	6	3409	c.3341A>G	c.(3340-3342)aAt>aGt	p.N1114S	CIC_ENST00000575354.2_Missense_Mutation_p.N205S|CIC_ENST00000160740.3_Missense_Mutation_p.N205S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	205	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGCCCATGAATGCCTTCATG	0.627			"Mis, F, S"		oligodendroglioma								G	42791728	A	G	42791728	3	3	482	1	0	0	0	0	1	0	0	0	3454	101	4	3	632	3	CIC	19	42791728	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	31967793	42791728	16337255	38	44907			1	63		3	3	7121	N	G_C_A	4.857727e-05
CIC	23152	broad.mit.edu	37	chr19	42791796	42791796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcccaaccaggacaacCggaccgtcagcaagatcctg	12	5	9	15	2	2	1	2	0	0	1	4	3	4	3	5	2	3	1	5	2	3	0			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42791796C>T	ENST00000572681.2	+	6	3477	c.3409C>T	c.(3409-3411)Cgg>Tgg	p.R1137W	CIC_ENST00000575354.2_Missense_Mutation_p.R228W|CIC_ENST00000160740.3_Missense_Mutation_p.R228W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	228	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGGACAACCGGACCGTCAG	0.622			"Mis, F, S"		oligodendroglioma								T	42791796	C	T	42791796	3	4	482	1	0	0	0	0	1	0	0	0	3454	643	23	1	700	1	CIC	19	42791796	Missense_Mutation	SNP	C	TCGA-FG-7641-01B-11D-2253-08	68	42791796	16337187	39	44908			1	63		3	3	7121	N	G_C_A	4.857727e-05
CIC	23152	broad.mit.edu	37	chr19	42798848	42798848	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaccagcgccgggccctgGtcatgcagctctttcaggac	6	8	13	14	2	3	0	2	0	1	0	3	2	3	2	3	4	3	2	3	4	0	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:42798848G>C	ENST00000572681.2	+	20	7206	c.7138G>C	c.(7138-7140)Gtc>Ctc	p.V2380L	CIC_ENST00000575354.2_Missense_Mutation_p.V1474L|CIC_ENST00000160740.3_Missense_Mutation_p.V1472L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1474					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1474F(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGGCCCTGGTCATGCAGCT	0.602			"Mis, F, S"		oligodendroglioma								C	42798848	G	C	42798848	3	2	482	1	0	0	0	0	1	0	0	0	3454	1261	44	4	4494	4	CIC	19	42798848	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	7052	42798848	16330135	40	44909			1	63		3	3	7121	N	G_C_A	4.857727e-05
PVR	5817	broad.mit.edu	37	chr19	45162043	45162043	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagcactcaggcatatcccGtaacgccatcatcttcctgg	9	10	8	14	2	3	1	2	1	1	0	5	1	5	1	3	2	2	3	3	2	2	3			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:45162043G>A	ENST00000425690.3	+	6	1324	c.1025G>A	c.(1024-1026)cGt>cAt	p.R342H	PVR_ENST00000344956.4_Intron|CTB-171A8.1_ENST00000590796.1_RNA|PVR_ENST00000406449.4_Missense_Mutation_p.R342H|PVR_ENST00000403059.4_Intron	NM_006505.3	NP_006496.3	P15151	PVR_HUMAN	poliovirus receptor	342					adherens junction organization|cell adhesion|cell junction assembly|interspecies interaction between organisms|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity	cell junction|cell surface|cytoplasm|extracellular space|integral to membrane|nucleus	cell adhesion molecule binding|receptor activity			large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	6	Lung NSC(12;0.00608)|all_lung(12;0.0148)	Medulloblastoma(540;0.0425)|Ovarian(192;0.0728)|Prostate(69;0.081)|all_neural(266;0.112)		Epithelial(262;0.000601)		GGCATATCCCGTAACGCCATC	0.468													A	45162043	G	A	45162043	3	1	482	1	0	0	0	0	1	0	0	0	12925	1145	40	1	1047	1	PVR	19	45162043	Missense_Mutation	SNP	G	TCGA-FG-7641-01B-11D-2253-08	2363195	45162043	13966940	41	44910											
ZBTB45	84878	broad.mit.edu	37	chr19	59028924	59028924	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgcagcgaagcttcacgAatgcgcacagtcacgtcaca	12	5	10	14	5	3	0	3	0	0	0	3	2	3	0	0	0	3	4	0	0	2	1			TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr19:59028924A>C	ENST00000594051.1	-	2	597	c.117T>G	c.(115-117)atT>atG	p.I39M	ZBTB45_ENST00000354590.3_Missense_Mutation_p.I39M|ZBTB45_ENST00000600990.1_Missense_Mutation_p.I39M			Q96K62	ZBT45_HUMAN	zinc finger and BTB domain containing 45	39	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|urinary_tract(1)	11		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0165)|Lung(386;0.18)		AAGCTTCACGAATGCGCACAG	0.602											OREG0025700	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	59028924	A	C	59028924	3	2	482	1	0	0	0	0	1	0	0	0	17647	242	9	5	1426	5	ZBTB45	19	59028924	Missense_Mutation	SNP	A	TCGA-FG-7641-01B-11D-2253-08	13866881	59028924	100059	42	44911											
CRYBB2	1415	broad.mit.edu	37	chr22	25625545	25625545	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcgggtgcagagtggcaCgtaagtgcgttgccagccct	6	9	16	10	3	0	1	0	0	0	1	0	1	0	1	2	2	5	4	2	2	1	2	rs4049504		TCGA-FG-7641-01B-11D-2253-08	TCGA-FG-7641-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	739e3612-208f-4004-a714-d0839f9b5e24	4e9b5d71-7edb-4c2f-b79f-eed7aff5a455	g.chr22:25625545C>T	ENST00000398215.2	+	5	620	c.449C>T	c.(448-450)aCg>aTg	p.T150M		NM_000496.2	NP_000487.1	P43320	CRBB2_HUMAN	crystallin, beta B2	150	Beta/gamma crystallin 'Greek key' 4.				response to stimulus|visual perception		structural constituent of eye lens			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)	10						CAGAGTGGCACGTAAGTGCGT	0.572													T	25625545	C	T	25625545	5	4	482	1	0	0	0	0	0	0	1	0	3942	550	19	1	463	1	CRYBB2	22	25625545	Splice_Site	SNP	C	TCGA-FG-7641-01B-11D-2253-08		25625545	25679021	43	44912											
ACTL8	81569	broad.mit.edu	37	chr1	18152414	18152414	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccagggccgccccttgccCgccagcggcaagacgctgga	7	3	13	18	4	0	1	0	0	0	1	0	2	0	2	6	3	2	2	6	3	1	1	rs114899155	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:18152414C>T	ENST00000375406.1	+	3	717	c.501C>T	c.(499-501)ccC>ccT	p.P167P		NM_030812.2	NP_110439.2	Q9H568	ACTL8_HUMAN	actin-like 8	167						cytoplasm|cytoskeleton				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	28		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00186)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;6.43e-06)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.00652)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)		GCCCCTTGCCCGCCAGCGGCA	0.607											OREG0013157	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	18152414	C	T	18152414	2	4	483	1	0	0	0	0	0	0	0	1	202	639	23	1		1	ACTL8	1	18152414	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		18152414	231098207	1	44913											
EIF4G3	8672	broad.mit.edu	37	chr1	21268144	21268144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggactctctggactgtgatGgcagcactcggagaactaac	11	8	12	10	1	1	2	0	1	1	1	3	5	1	4	0	4	3	2	0	4	2	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:21268144G>A	ENST00000602326.1	-	12	1936	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	EIF4G3_ENST00000400422.1_Silent_p.A445A|EIF4G3_ENST00000264211.8_Silent_p.A445A|EIF4G3_ENST00000356916.3_Silent_p.A456A|EIF4G3_ENST00000536266.1_Silent_p.A49A|EIF4G3_ENST00000374927.4_Silent_p.A445A|EIF4G3_ENST00000374935.3_Intron|EIF4G3_ENST00000374937.3_Silent_p.A451A	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	445					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		GGACTGTGATGGCAGCACTCG	0.488													A	21268144	G	A	21268144	2	1	483	1	0	0	0	0	0	0	0	1	5079	1335	47	2		2	EIF4G3	1	21268144	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3115730	21268144	227982477	2	44914											
CDC20	991	broad.mit.edu	37	chr1	43826262	43826262	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacagctatatcctgtcCaggtcagtggtttttgttgg	7	15	12	7	0	1	0	1	0	0	0	3	1	3	1	2	4	2	3	2	4	3	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:43826262C>A	ENST00000372462.1	+	6	1049	c.846C>A	c.(844-846)tcC>tcA	p.S282S	CDC20_ENST00000310955.6_Silent_p.S282S|CDC20_ENST00000478882.1_3'UTR			Q12834	CDC20_HUMAN	cell division cycle 20	282					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle	cytosol|nucleoplasm|spindle	enzyme binding|protein C-terminus binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	15	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				ATATCCTGTCCAGGTCAGTGG	0.512													A	43826262	C	A	43826262	2	1	483	1	0	0	0	0	0	0	0	1	3089	581	21	4		4	CDC20	1	43826262	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	22558118	43826262	205424359	3	44915											
PI4KB	5298	broad.mit.edu	37	chr1	151265427	151265428	+	Frame_Shift_Ins	INS	-	-	T																															gctccaccagcagctgcagcINStgctcctcagtcatgctcat																										TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:151265427_151265428insT	ENST00000368875.2	-	13	2967_2968	c.2387_2388insA	c.(2386-2388)cagfs	p.Q796fs	PI4KB_ENST00000271657.5_Frame_Shift_Ins_p.Q796fs|PI4KB_ENST00000368874.4_Frame_Shift_Ins_p.Q769fs|PI4KB_ENST00000529142.1_Frame_Shift_Ins_p.Q452fs|PI4KB_ENST00000368873.1_Frame_Shift_Ins_p.Q784fs|PI4KB_ENST00000368872.1_Frame_Shift_Ins_p.Q769fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	784				S -> G (in Ref. 4; BAG57793).	phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GCAGCTGCAGCTGCTCCTCAGT	0.55													T	151265428	-	T	151265427	7	5	483	1	0	1	1	0	0	0	0	0	11951	796	28	0	102	0	PI4KB	1	151265427	Frame_Shift_Ins	INS	-	TCGA-FG-7643-01A-11D-2086-08	107439165	151265427	97985194	4	44916											
CCDC19	25790	broad.mit.edu	37	chr1	159842876	159842876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgcgcacctggcgccGgagctcattggcatgctgta	5	10	13	13	4	2	0	1	0	1	0	3	1	2	1	2	3	2	6	2	3	1	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:159842876G>A	ENST00000426543.2	-	11	1635	c.1180C>T	c.(1180-1182)Cgg>Tgg	p.R394W	CCDC19_ENST00000368099.4_Missense_Mutation_p.R479W|CCDC19_ENST00000476696.1_5'UTR			Q9UL16	CCD19_HUMAN	coiled-coil domain containing 19	479						mitochondrion|soluble fraction				endometrium(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	26	all_hematologic(112;0.0597)		BRCA - Breast invasive adenocarcinoma(70;0.151)			ACCTGGCGCCGGAGCTCATTG	0.612													A	159842876	G	A	159842876	3	1	483	1	0	0	0	0	1	0	0	0	2822	1115	39	1	228	1	CCDC19	1	159842876	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	8577449	159842876	89407745	5	44917											
ATP1A2	477	broad.mit.edu	37	chr1	160098496	160098496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagaactgcctggtgaagAacctggaggcggtggagacg	11	5	18	7	2	0	4	0	1	0	3	0	7	0	6	2	6	3	0	2	6	4	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:160098496A>G	ENST00000361216.3	+	9	1161	c.1072A>G	c.(1072-1074)Aac>Gac	p.N358D	ATP1A2_ENST00000392233.3_Missense_Mutation_p.N358D	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	358					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CCTGGTGAAGAACCTGGAGGC	0.587													G	160098496	A	G	160098496	3	3	483	1	0	0	0	0	1	0	0	0	1134	246	9	3	1106	3	ATP1A2	1	160098496	Missense_Mutation	SNP	A	TCGA-FG-7643-01A-11D-2086-08	255620	160098496	89152125	6	44918											
HMCN1	83872	broad.mit.edu	37	chr1	185947027	185947027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaccaacaatcaaatggcGaagattagacaacatgccaa	20	5	7	9	1	1	3	1	0	0	3	1	4	1	3	2	1	4	0	2	1	8	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:185947027G>A	ENST00000271588.4	+	16	2709	c.2480G>A	c.(2479-2481)cGa>cAa	p.R827Q	HMCN1_ENST00000485744.1_3'UTR|HMCN1_ENST00000367492.2_Missense_Mutation_p.R827Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	827	Ig-like C2-type 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAATGGCGAAGATTAGAC	0.378													A	185947027	G	A	185947027	3	1	483	1	0	0	0	0	1	0	0	0	7275	1058	37	1	2542	1	HMCN1	1	185947027	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	25848531	185947027	63303594	7	44919											
CACNA1S	779	broad.mit.edu	37	chr1	201020210	201020210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcatagtccgactctgggtCacacagcttcccatagctgc	8	9	10	14	1	2	0	1	0	1	0	4	1	4	0	2	2	3	3	2	2	2	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:201020210C>T	ENST00000362061.3	-	33	4241	c.4015G>A	c.(4015-4017)Gac>Aac	p.D1339N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.D1320N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1339	Dihydropyridine binding (By similarity).				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACTCTGGGTCACACAGCTTC	0.547													T	201020210	C	T	201020210	3	4	483	1	0	0	0	0	1	0	0	0	2573	826	29	2	1654	2	CACNA1S	1	201020210	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	15073183	201020210	48230411	8	44920											
RYR2	6262	broad.mit.edu	37	chr1	237729947	237729947	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctatgcagtgaaggccGgacggtggtattttgaattt	10	12	13	6	2	0	3	0	2	0	1	0	4	0	4	2	4	1	2	2	4	4	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr1:237729947G>A	ENST00000366574.2	+	28	3612	c.3295G>A	c.(3295-3297)Gga>Aga	p.G1099R	RYR2_ENST00000542537.1_Missense_Mutation_p.G1083R|RYR2_ENST00000360064.6_Missense_Mutation_p.G1097R	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1099	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGTGAAGGCCGGACGGTGGTA	0.552													A	237729947	G	A	237729947	3	1	483	1	0	0	0	0	1	0	0	0	13860	1117	39	1	3405	1	RYR2	1	237729947	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	36709737	237729947	11520674	9	44921											
TTN	7273	broad.mit.edu	37	chr2	179414390	179414390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggaattggtattcattgcCgtttattagtttaatggcag	10	16	10	5	2	1	0	1	0	0	0	1	1	1	1	1	3	1	4	1	3	5	9			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:179414390C>T	ENST00000589042.1	-	338	92283	c.92059G>A	c.(92059-92061)Ggc>Agc	p.G30687S	RP11-65L3.2_ENST00000603415.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G29046S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G28119S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G21747S|TTN_ENST00000460472.2_Missense_Mutation_p.G21622S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G21814S|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29046	Ig-like 138.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TATTCATTGCCGTTTATTAGT	0.408													T	179414390	C	T	179414390	3	4	483	1	0	0	0	0	1	0	0	0	16837	652	23	1	16020	1	TTN	2	179414390	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		179414390	63784983	10	44922											
ZSWIM2	151112	broad.mit.edu	37	chr2	187698677	187698677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatggatactgtacctcaCgaaatgtaaacgtgtgggaa	15	9	11	6	2	1	1	1	0	0	1	1	4	1	3	1	2	3	2	1	2	7	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:187698677C>T	ENST00000295131.2	-	6	863	c.824G>A	c.(823-825)cGt>cAt	p.R275H		NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2	275					apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CTGTACCTCACGAAATGTAAA	0.363													T	187698677	C	T	187698677	3	4	483	1	0	0	0	0	1	0	0	0	18338	536	19	1	1093	1	ZSWIM2	2	187698677	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	8284287	187698677	55500696	11	44923											
CXCR1	3577	broad.mit.edu	37	chr2	219029298	219029298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgacaaacagcggcaCgatgaagccaaaggtgtgag	15	4	13	9	2	0	3	0	3	0	0	0	4	0	3	1	2	4	2	1	2	3	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr2:219029298C>T	ENST00000295683.2	-	2	757	c.637G>A	c.(637-639)Gtg>Atg	p.V213M		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	213					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity	p.V213M(1)		endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						AACAGCGGCACGATGAAGCCA	0.522													T	219029298	C	T	219029298	3	4	483	1	0	0	0	0	1	0	0	0	4123	536	19	1	419	1	CXCR1	2	219029298	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	31330621	219029298	24170075	12	44924											
PCBP4	57060	broad.mit.edu	37	chr3	51993277	51993277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtgtggcaaaggggaccGcatggcttgagagctgctgg	7	8	19	7	1	0	1	0	1	0	1	0	3	0	2	1	6	2	5	1	6	1	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:51993277G>A	ENST00000461554.1	-	11	999	c.668C>T	c.(667-669)gCg>gTg	p.A223V	PCBP4_ENST00000355852.2_Missense_Mutation_p.A223V|PCBP4_ENST00000471622.1_Missense_Mutation_p.A223V|PCBP4_ENST00000428823.2_Missense_Mutation_p.A180V|PCBP4_ENST00000395014.2_Missense_Mutation_p.A244V|PCBP4_ENST00000322099.7_Missense_Mutation_p.A223V|PCBP4_ENST00000484633.1_Missense_Mutation_p.A180V|PCBP4_ENST00000395013.3_Missense_Mutation_p.A63V	NM_001174100.1	NP_001167571.1	P57723	PCBP4_HUMAN	poly(rC) binding protein 4	223						cytoplasm|ribonucleoprotein complex	DNA binding|RNA binding			endometrium(2)|large_intestine(2)|lung(2)|prostate(1)|stomach(1)	8				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AAAGGGGACCGCATGGCTTGA	0.637													A	51993277	G	A	51993277	3	1	483	1	0	0	0	0	1	0	0	0	11579	1087	38	1	559	1	PCBP4	3	51993277	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		51993277	146029153	13	44925											
PDE12	201626	broad.mit.edu	37	chr3	57542756	57542757	+	Frame_Shift_Ins	INS	-	-	T																															ggtgtcccctcgtcattgtcINStccctcctcaccttcttctt																										TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:57542756_57542757insT	ENST00000311180.8	+	1	753_754	c.650_651insT	c.(649-654)tctcccfs	p.P218fs	PDE12_ENST00000487257.1_Frame_Shift_Ins_p.P218fs	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	218							hydrolase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TCGTCATTGTCTCCCTCCTCAC	0.594													T	57542757	-	T	57542756	7	5	483	1	0	1	1	0	0	0	0	0	11708	913	32	0	652	0	PDE12	3	57542756	Frame_Shift_Ins	INS	-	TCGA-FG-7643-01A-11D-2086-08	5549479	57542756	140479674	14	44926											
C3orf14	57415	broad.mit.edu	37	chr3	62317051	62317051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggattcacccacttccaCggcctgaggtggtttctctt	6	12	9	14	1	2	1	1	1	1	0	4	2	3	2	4	4	0	1	4	4	0	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:62317051C>T	ENST00000494481.1	+	5	543	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	C3orf14_ENST00000232519.5_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000495542.1_RNA|C3orf14_ENST00000462069.1_Missense_Mutation_p.R77W|C3orf14_ENST00000542214.1_Missense_Mutation_p.R77W|PTPRG-AS1_ENST00000490916.1_RNA			Q9HBI5	CC014_HUMAN	chromosome 3 open reading frame 14	77								p.R77W(1)		central_nervous_system(1)|large_intestine(1)|lung(1)	3				BRCA - Breast invasive adenocarcinoma(55;0.00023)|KIRC - Kidney renal clear cell carcinoma(15;0.00877)|Kidney(15;0.0101)		CCCACTTCCACGGCCTGAGGT	0.388													T	62317051	C	T	62317051	3	4	483	1	0	0	0	0	1	0	0	0	2229	527	19	1	239	1	C3orf14	3	62317051	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	4774295	62317051	135705379	15	44927											
EPHA6	285220	broad.mit.edu	37	chr3	97329663	97329663	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtaatgattgtggtggaaTatatggagaatggatcccta	13	12	12	4	0	0	2	0	1	0	1	1	5	1	4	1	4	0	1	1	4	6	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr3:97329663T>C	ENST00000389672.5	+	13	2577	c.2539T>C	c.(2539-2541)Tat>Cat	p.Y847H	EPHA6_ENST00000442602.2_Missense_Mutation_p.Y213H|EPHA6_ENST00000502694.1_Missense_Mutation_p.Y239H|EPHA6_ENST00000514100.1_Missense_Mutation_p.Y239H	NM_001080448.2	NP_001073917.2	Q9UF33	EPHA6_HUMAN	EPH receptor A6	752	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(2)|lung(60)|ovary(3)|skin(11)|stomach(5)|upper_aerodigestive_tract(2)	101						TGTGGTGGAATATATGGAGAA	0.373													C	97329663	T	C	97329663	3	2	483	1	0	0	0	0	1	0	0	0	5212	1406	49	3	2657	3	EPHA6	3	97329663	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08	35012612	97329663	100692767	16	44928											
WDR1	9948	broad.mit.edu	37	chr4	10077032	10077032	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgtccactccttgacagaGgcatcatgggaggtcgtgac	9	10	12	10	1	1	3	1	2	0	1	4	4	3	4	2	3	0	1	2	3	0	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:10077032G>A	ENST00000382452.2	-	15	2073	c.1791C>T	c.(1789-1791)gcC>gcT	p.A597A	WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000382451.2_Silent_p.A457A|WDR1_ENST00000502702.1_Silent_p.A457A|WDR1_ENST00000499869.2_Silent_p.A597A	NM_017491.3	NP_059830.1	O75083	WDR1_HUMAN	WD repeat domain 1	597					platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding			endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		CCTTGACAGAGGCATCATGGG	0.567													A	10077032	G	A	10077032	2	1	483	1	0	0	0	0	0	0	0	1	17374	987	35	2		2	WDR1	4	10077032	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		10077032	181077244	17	44929											
GABRG1	2565	broad.mit.edu	37	chr4	46060562	46060562	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaaatgcaaactgatataAtctccagtatttaggatcag	16	12	6	7	0	2	1	1	1	1	0	3	2	2	2	1	1	3	2	1	1	7	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:46060562A>G	ENST00000295452.4	-	6	870	c.703T>C	c.(703-705)Tta>Cta	p.L235L		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	235					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AACTGATATAATCTCCAGTAT	0.348													G	46060562	A	G	46060562	2	3	483	1	0	0	0	0	0	0	0	1	6223	98	4	3		3	GABRG1	4	46060562	Silent	SNP	A	TCGA-FG-7643-01A-11D-2086-08	35983530	46060562	145093714	18	44930											
POLR2B	5431	broad.mit.edu	37	chr4	57873149	57873149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaaaagaaagctcatcaagCcagagctggagtatctcagg	15	7	10	9	0	4	2	4	0	1	2	5	3	4	3	1	2	3	3	1	2	5	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:57873149C>T	ENST00000381227.1	+	11	1798	c.1385C>T	c.(1384-1386)gCc>gTc	p.A462V	POLR2B_ENST00000431623.2_Missense_Mutation_p.A387V|POLR2B_ENST00000441246.2_Missense_Mutation_p.A455V|POLR2B_ENST00000314595.5_Missense_Mutation_p.A462V			P30876	RPB2_HUMAN	polymerase (RNA) II (DNA directed) polypeptide B, 140kDa	462					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(10)|large_intestine(9)|lung(17)|ovary(2)|prostate(4)|skin(1)	52	Glioma(25;0.08)|all_neural(26;0.181)					GCTCATCAAGCCAGAGCTGGA	0.378													T	57873149	C	T	57873149	3	4	483	1	0	0	0	0	1	0	0	0	12292	739	26	2	1423	2	POLR2B	4	57873149	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	11812587	57873149	133281127	19	44931											
CCDC158	339965	broad.mit.edu	37	chr4	77255306	77255306	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatcttccttcagtgtgttAgcttttgtagagtgctgagt	6	17	12	6	0	2	2	1	1	1	1	3	3	3	3	1	1	2	4	1	1	2	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:77255306A>T	ENST00000388914.3	-	18	2831	c.2679T>A	c.(2677-2679)gcT>gcA	p.A893A		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	893										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TCAGTGTGTTAGCTTTTGTAG	0.393													T	77255306	A	T	77255306	2	4	483	1	0	0	0	0	0	0	0	1	2817	407	15	5		5	CCDC158	4	77255306	Silent	SNP	A	TCGA-FG-7643-01A-11D-2086-08	19382157	77255306	113898970	20	44932											
KLHL8	57563	broad.mit.edu	37	chr4	88091688	88091688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctatgtcatatctctccaCatcattgaagcaagtattgt	11	16	5	9	0	4	1	2	1	2	0	6	1	5	1	1	0	1	2	1	0	5	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:88091688C>T	ENST00000273963.5	-	7	1629	c.1288G>A	c.(1288-1290)Gtg>Atg	p.V430M	KLHL8_ENST00000498875.2_Missense_Mutation_p.V354M|KLHL8_ENST00000512111.1_Missense_Mutation_p.V430M|KLHL8_ENST00000545252.1_Missense_Mutation_p.V79M|KLHL8_ENST00000425278.2_Missense_Mutation_p.V247M	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	430										breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		TATCTCTCCACATCATTGAAG	0.428													T	88091688	C	T	88091688	3	4	483	1	0	0	0	0	1	0	0	0	8453	478	17	2	590	2	KLHL8	4	88091688	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	10836382	88091688	103062588	21	44933											
TRIM60	166655	broad.mit.edu	37	chr4	165962517	165962517	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatctttccttttataatatGaatgataggtctattctcta	11	19	5	6	0	3	2	0	2	3	0	5	3	4	2	1	1	0	0	1	1	7	9			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr4:165962517G>A	ENST00000512596.1	+	3	1509	c.1293G>A	c.(1291-1293)atG>atA	p.M431I	TRIM60_ENST00000508504.1_Missense_Mutation_p.M431I|TRIM60_ENST00000341062.5_Missense_Mutation_p.M431I	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	431	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		TTTATAATATGAATGATAGGT	0.373													A	165962517	G	A	165962517	3	1	483	1	0	0	0	0	1	0	0	0	16636	1290	45	2	1295	2	TRIM60	4	165962517	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	77870829	165962517	25191759	22	44934											
ADCY2	108	broad.mit.edu	37	chr5	7520913	7520913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttcaacatgcgagaCgccatcattgccagcgtcct	8	9	8	16	3	2	1	2	0	0	1	3	2	3	1	4	0	5	0	4	0	1	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547													T	7520913	C	T	7520913	2	4	483	1	0	0	0	0	0	0	0	1	294	535	19	1		1	ADCY2	5	7520913	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		7520913	173394347	23	44935											
C5orf42	65250	broad.mit.edu	37	chr5	37169185	37169185	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catattgatccaagttcacaTgattaggaatttctgtaatt	13	16	6	6	0	2	2	1	2	1	0	3	3	3	3	1	1	0	2	1	1	5	7			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:37169185T>C	ENST00000274258.7	-	34	7168	c.3581A>G	c.(3580-3582)cAt>cGt	p.H1194R	C5orf42_ENST00000425232.2_Missense_Mutation_p.H2314R|C5orf42_ENST00000508244.1_Missense_Mutation_p.H2314R			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2314										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CAAGTTCACATGATTAGGAAT	0.373													C	37169185	T	C	37169185	3	2	483	1	0	0	0	0	1	0	0	0	2323	1464	51	3	2728	3	C5orf42	5	37169185	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08	29648272	37169185	143746075	24	44936											
C7	730	broad.mit.edu	37	chr5	40934551	40934551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggagggatgtggagagcGtttcaggtgcttttcaggta	9	11	17	4	1	2	2	2	0	0	2	2	5	2	4	0	5	2	3	0	5	1	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:40934551G>A	ENST00000313164.9	+	4	622	c.263G>A	c.(262-264)cGt>cAt	p.R88H		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	88	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				TGTGGAGAGCGTTTCAGGTGC	0.423													A	40934551	G	A	40934551	3	1	483	1	0	0	0	0	1	0	0	0	2399	1145	40	1	277	1	C7	5	40934551	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3765366	40934551	139980709	25	44937											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81613927	81613927	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtccctgatcctgctgctGgtgttggcctatgccctgca	4	13	11	13	0	0	1	0	1	0	0	2	1	2	1	4	2	4	4	4	2	1	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:81613927G>A	ENST00000380167.4	+	10	1808	c.483G>A	c.(481-483)ctG>ctA	p.L161L	ATP6AP1L_ENST00000508366.1_Intron|ATP6AP1L_ENST00000439350.1_Silent_p.L161L			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	161					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						TCCTGCTGCTGGTGTTGGCCT	0.557													A	81613927	G	A	81613927	2	1	483	1	0	0	0	0	0	0	0	1	1171	1335	47	2		2	ATP6AP1L	5	81613927	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	40679376	81613927	99301333	26	44938											
GPR98	84059	broad.mit.edu	37	chr5	90106376	90106376	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttacttcagtagaaattaGgggattacaaaagtttgatg	14	13	9	5	0	1	2	1	1	0	1	1	3	1	3	1	2	2	2	1	2	7	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:90106376G>T	ENST00000405460.2	+	74	15395	c.15299G>T	c.(15298-15300)aGg>aTg	p.R5100M	GPR98_ENST00000425867.2_Missense_Mutation_p.R761M	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5100					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTAGAAATTAGGGGATTACAA	0.333													T	90106376	G	T	90106376	3	4	483	1	0	0	0	0	1	0	0	0	6776	1000	35	4	15593	4	GPR98	5	90106376	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	8492449	90106376	90808884	27	44939											
SLCO6A1	133482	broad.mit.edu	37	chr5	101709135	101709135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcagtgttctcatttagaCgacgtttgtatatgaaaaat	13	15	8	5	2	2	2	2	1	1	1	3	3	2	2	0	0	0	3	0	0	5	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:101709135C>T	ENST00000506729.1	-	13	2252	c.2081G>A	c.(2080-2082)cGt>cAt	p.R694H	SLCO6A1_ENST00000379810.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000379807.3_Missense_Mutation_p.R694H|SLCO6A1_ENST00000513675.1_Missense_Mutation_p.R441H|SLCO6A1_ENST00000389019.3_Missense_Mutation_p.R632H			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	694						integral to membrane|plasma membrane	transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		CTCATTTAGACGACGTTTGTA	0.323													T	101709135	C	T	101709135	3	4	483	1	0	0	0	0	1	0	0	0	14826	536	19	1	82	1	SLCO6A1	5	101709135	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	11602759	101709135	79206125	28	44940											
EGR1	1958	broad.mit.edu	37	chr5	137803725	137803725	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgcctccacagggctttcGgacatgacagcaaccttttc	9	9	9	14	2	0	1	0	1	0	0	3	2	1	2	3	2	3	2	3	2	1	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:137803725G>A	ENST00000239938.4	+	2	1859	c.1587G>A	c.(1585-1587)tcG>tcA	p.S529S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	529					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CAGGGCTTTCGGACATGACAG	0.512													A	137803725	G	A	137803725	2	1	483	1	0	0	0	0	0	0	0	1	5010	1103	39	1		1	EGR1	5	137803725	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	36094590	137803725	43111535	29	44941											
PCDHB8	56128	broad.mit.edu	37	chr5	140558380	140558380	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtgcagatctctgaggaCagtccaataagcttcctggt	10	10	12	9	0	1	2	0	1	1	1	4	3	3	3	2	3	2	2	2	3	2	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140558380C>G	ENST00000239444.2	+	1	1010	c.765C>G	c.(763-765)gaC>gaG	p.D255E		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		255	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCTCTGAGGACAGTCCAATAA	0.468													G	140558380	C	G	140558380	3	3	483	1	0	0	0	0	1	0	0	0	11624	477	17	4	767	4	PCDHB8	5	140558380	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	2754655	140558380	40356880	30	44942											
PCDHGC4	56098	broad.mit.edu	37	chr5	140865844	140865844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgcagaacctggcactgtGgtggcacttatcagtgtgca	9	10	13	9	0	1	1	1	0	0	1	1	1	1	1	1	3	3	4	1	3	2	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140865844G>A	ENST00000306593.1	+	1	1104	c.1104G>A	c.(1102-1104)gtG>gtA	p.V368V	PCDHGB4_ENST00000519479.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_018928.2|NM_032406.1	NP_061751.1|NP_115782.1														NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(13)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	42			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGCACTGTGGTGGCACTTA	0.547													A	140865844	G	A	140865844	2	1	483	1	0	0	0	0	0	0	0	1	11646	1335	47	2		2	PCDHGC4	5	140865844	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	307464	140865844	40049416	31	44943											
DIAPH1	1729	broad.mit.edu	37	chr5	140908744	140908744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggcctcactcaccaccaCgccaaactgctctgactcag	11	6	6	18	1	4	1	3	1	1	0	4	1	4	1	4	1	2	1	4	1	1	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:140908744C>T	ENST00000253811.6	-	21	2916	c.2776G>A	c.(2776-2778)Gtg>Atg	p.V926M	DIAPH1_ENST00000398566.3_Missense_Mutation_p.V917M|DIAPH1_ENST00000398562.2_Missense_Mutation_p.V901M|DIAPH1_ENST00000494967.1_5'UTR|DIAPH1_ENST00000389057.5_Missense_Mutation_p.V916M|DIAPH1_ENST00000398557.4_Missense_Mutation_p.V925M|DIAPH1_ENST00000389054.3_Missense_Mutation_p.V922M|DIAPH1_ENST00000520569.1_Missense_Mutation_p.V868M|DIAPH1_ENST00000518047.1_Missense_Mutation_p.V913M			O60610	DIAP1_HUMAN	diaphanous-related formin 1	925	FH2.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACCACCACGCCAAACTGC	0.512													T	140908744	C	T	140908744	3	4	483	1	0	0	0	0	1	0	0	0	4557	536	19	1	1077	1	DIAPH1	5	140908744	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	42900	140908744	40006516	32	44944											
SPINK5	11005	broad.mit.edu	37	chr5	147491350	147491350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagctgtgcagtgaatatcGtcattatgtgaggaatggac	11	11	14	5	1	1	2	1	2	0	0	2	5	1	5	0	3	2	2	0	3	4	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:147491350G>A	ENST00000359874.3	+	19	1785	c.1712G>A	c.(1711-1713)cGt>cAt	p.R571H	SPINK5_ENST00000256084.7_Missense_Mutation_p.R571H|SPINK5_ENST00000398454.1_Missense_Mutation_p.R571H	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	571	Kazal-like 9.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTGAATATCGTCATTATGTG	0.433													A	147491350	G	A	147491350	3	1	483	1	0	0	0	0	1	0	0	0	15158	1145	40	1	1786	1	SPINK5	5	147491350	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	6582606	147491350	33423910	33	44945											
FAM71B	153745	broad.mit.edu	37	chr5	156589802	156589802	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgcgagaggagccatgtcGcttgccccttacgttgctgt	5	12	12	12	3	0	1	0	0	0	1	1	3	0	2	3	1	5	3	3	1	1	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr5:156589802G>A	ENST00000302938.4	-	2	1569	c.1474C>T	c.(1474-1476)Cga>Tga	p.R492*		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	492						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCCATGTCGCTTGCCCCTT	0.512													A	156589802	G	A	156589802	4	1	483	1	0	0	0	0	0	1	0	0	5658	1095	38	1	347	1	FAM71B	5	156589802	Nonsense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	9098452	156589802	24325458	34	44946											
CDSN	1041	broad.mit.edu	37	chr6	31083952	31083952	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggcttggcaccagcGgagggatcaggatggggaga	10	4	18	9	1	1	1	1	0	0	1	1	5	1	4	2	7	1	2	2	7	0	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31083952G>A	ENST00000376288.2	-	2	1466	c.1440C>T	c.(1438-1440)tcC>tcT	p.S480S	PSORS1C1_ENST00000467107.1_3'UTR|PSORS1C1_ENST00000259881.9_Intron	NM_001264.4	NP_001255	Q15517	CDSN_HUMAN	corneodesmosin	480					cell-cell adhesion|keratinocyte differentiation|skin morphogenesis	cornified envelope|desmosome|extracellular region	protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)	10						TGGCACCAGCGGAGGGATCAG	0.622													A	31083952	G	A	31083952	2	1	483	1	0	0	0	0	0	0	0	1	3209	1103	39	1		1	CDSN	6	31083952	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		31083952	140031115	35	44947											
MICB	4277	broad.mit.edu	37	chr6	31473999	31473999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcccggcatttctactaCgatggggagctcttcctctc	5	12	10	14	2	3	0	0	0	3	0	6	2	5	1	2	4	3	3	2	4	2	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:31473999C>T	ENST00000252229.6	+	3	484	c.405C>T	c.(403-405)taC>taT	p.Y135Y	MICB_ENST00000538442.1_Silent_p.Y103Y|MICB_ENST00000399150.3_Intron	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	135					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						ATTTCTACTACGATGGGGAGC	0.552													T	31473999	C	T	31473999	2	4	483	1	0	0	0	0	0	0	0	1	9650	547	19	1		1	MICB	6	31473999	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	390047	31473999	139641068	36	44948											
ROS1	6098	broad.mit.edu	37	chr6	117686238	117686238	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtacctgtttcaggtgctcGaagtgacagagatgttttgg	8	14	13	6	1	1	2	1	1	0	1	2	4	1	2	1	2	2	4	1	2	2	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr6:117686238G>A	ENST00000368508.3	-	20	3301	c.3103C>T	c.(3103-3105)Cga>Tga	p.R1035*	ROS1_ENST00000368507.3_Nonsense_Mutation_p.R1030*|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1035	Fibronectin type-III 4.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.R1035*(2)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TCAGGTGCTCGAAGTGACAGA	0.378			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117686238	G	A	117686238	4	1	483	1	0	0	0	0	0	1	0	0	13622	1066	37	1	4036	1	ROS1	6	117686238	Nonsense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	86212239	117686238	53428829	37	44949											
GARS	2617	broad.mit.edu	37	chr7	30651808	30651808	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgctgctgcccagatTggaaattcttttagaaatga	10	15	8	8	0	1	3	0	1	1	2	1	4	1	4	2	1	3	2	2	1	3	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:30651808T>G	ENST00000389266.3	+	8	1219	c.978T>G	c.(976-978)atT>atG	p.I326M		NM_002047.2	NP_002038.2	P41250	SYG_HUMAN	glycyl-tRNA synthetase	326					cell death|diadenosine tetraphosphate biosynthetic process|glycyl-tRNA aminoacylation	cytosol|mitochondrial matrix|soluble fraction	ATP binding|glycine-tRNA ligase activity|protein dimerization activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(3)|urinary_tract(1)	24					Glycine(DB00145)	CTGCCCAGATTGGAAATTCTT	0.423													G	30651808	T	G	30651808	3	3	483	1	0	0	0	0	1	0	0	0	6296	1800	63	5	1008	5	GARS	7	30651808	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08		30651808	128486855	38	44950											
MAGI2	9863	broad.mit.edu	37	chr7	77885614	77885614	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagtgcagagaatgaggcgGccgatctgttatatctggaa	11	9	15	6	2	2	2	0	1	2	1	2	6	2	4	1	4	1	2	1	4	4	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:77885614G>T	ENST00000354212.4	-	10	1946	c.1693C>A	c.(1693-1695)Ccg>Acg	p.P565T	MAGI2_ENST00000419488.1_Missense_Mutation_p.P565T|MAGI2_ENST00000535697.1_Missense_Mutation_p.P402T|MAGI2_ENST00000522391.1_Missense_Mutation_p.P565T|MAGI2_ENST00000536571.1_Missense_Mutation_p.P397T	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	565						cell junction|synapse|synaptosome	phosphatase binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				GAATGAGGCGGCCGATCTGTT	0.507													T	77885614	G	T	77885614	3	4	483	1	0	0	0	0	1	0	0	0	9266	1203	42	4	2726	4	MAGI2	7	77885614	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	47233806	77885614	81253049	39	44951											
LAMB4	22798	broad.mit.edu	37	chr7	107732214	107732214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcacactgcccattcttggGtgagcacctgaggaaaaagc	11	9	10	11	0	2	2	1	2	1	0	2	3	2	3	2	2	3	1	2	2	2	3	rs143703672		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr7:107732214G>A	ENST00000388781.3	-	14	1641	c.1558C>T	c.(1558-1560)Ccc>Tcc	p.P520S	LAMB4_ENST00000414450.2_Missense_Mutation_p.P520S|LAMB4_ENST00000388780.3_Missense_Mutation_p.P520S|LAMB4_ENST00000418464.1_Missense_Mutation_p.P520S|LAMB4_ENST00000205386.4_Missense_Mutation_p.P520S	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	520	Laminin EGF-like 5; truncated.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CCATTCTTGGGTGAGCACCTG	0.493													A	107732214	G	A	107732214	3	1	483	1	0	0	0	0	1	0	0	0	8672	1261	44	2	3811	2	LAMB4	7	107732214	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	29846600	107732214	51406449	40	44952											
EPHX2	2053	broad.mit.edu	37	chr8	27382881	27382881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttatttctgtagggCggtggccagtttgaatactc	6	15	11	9	1	2	1	0	1	2	0	3	1	2	1	2	3	2	2	2	3	4	5	rs76549048		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:27382881C>T	ENST00000521400.1	+	12	1491	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	EPHX2_ENST00000521780.1_Missense_Mutation_p.A288V|EPHX2_ENST00000517536.1_Missense_Mutation_p.A171V|EPHX2_ENST00000518379.1_Missense_Mutation_p.A322V|EPHX2_ENST00000380476.3_Missense_Mutation_p.A301V	NM_001979.5	NP_001970.2	P34913	HYES_HUMAN	epoxide hydrolase 2, cytoplasmic	354	Epoxide hydrolase.				aromatic compound catabolic process|cellular calcium ion homeostasis|drug metabolic process|inflammatory response|positive regulation of vasodilation|reactive oxygen species metabolic process|regulation of blood pressure|response to toxin|xenobiotic metabolic process	cytosol|focal adhesion|Golgi apparatus|nucleolus|peroxisome|soluble fraction	epoxide hydrolase activity|metal ion binding|protein homodimerization activity	p.A354V(1)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	27		Ovarian(32;2.61e-05)|all_epithelial(46;0.207)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0226)|Epithelial(17;1.12e-09)|Colorectal(74;0.157)	Tamoxifen(DB00675)	TTCTGTAGGGCGGTGGCCAGT	0.463													T	27382881	C	T	27382881	3	4	483	1	0	0	0	0	1	0	0	0	5221	768	27	1	1107	1	EPHX2	8	27382881	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		27382881	118981141	41	44953											
KIF13B	23303	broad.mit.edu	37	chr8	28981588	28981588	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgatccaagtactcctgaCgttttgttaatgcatttagc	9	16	8	8	1	0	2	0	2	0	0	2	2	2	2	2	0	3	5	2	0	4	7			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:28981588C>T	ENST00000524189.1	-	27	3343	c.3305G>A	c.(3304-3306)cGt>cAt	p.R1102H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1102					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GTACTCCTGACGTTTTGTTAA	0.343													T	28981588	C	T	28981588	3	4	483	1	0	0	0	0	1	0	0	0	8333	536	19	1	2231	1	KIF13B	8	28981588	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	1598707	28981588	117382434	42	44954											
WRN	7486	broad.mit.edu	37	chr8	30938764	30938764	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaactccaaattttggaacaGcagtctcaggaagaatatct	15	10	8	8	0	2	1	1	0	2	1	4	4	3	3	1	2	3	1	1	2	6	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:30938764G>A	ENST00000298139.5	+	9	1470	c.1221G>A	c.(1219-1221)caG>caA	p.Q407Q		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	407					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		TTTTGGAACAGCAGTCTCAGG	0.338			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				A	30938764	G	A	30938764	2	1	483	1	0	0	0	0	0	0	0	1	17504	962	34	2		2	WRN	8	30938764	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	1957176	30938764	115425258	43	44955											
RP1	6101	broad.mit.edu	37	chr8	55533746	55533746	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggataacttgtccaggaagGtgcccctcccttttggagtg	7	12	12	10	0	0	0	0	0	0	0	2	3	2	3	4	4	2	0	4	4	2	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:55533746G>T	ENST00000220676.1	+	2	368	c.220G>T	c.(220-222)Gtg>Ttg	p.V74L		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	74	Doublecortin 1.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GTCCAGGAAGGTGCCCCTCCC	0.597													T	55533746	G	T	55533746	3	4	483	1	0	0	0	0	1	0	0	0	13623	1261	44	4	222	4	RP1	8	55533746	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	24594982	55533746	90830276	44	44956											
CYP7A1	1581	broad.mit.edu	37	chr8	59409693	59409693	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggttttgatgaaagtgtcGtttatgttttcagtggtatt	8	19	12	2	1	1	2	1	2	0	0	2	2	1	2	0	2	0	4	0	2	3	8			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr8:59409693G>A	ENST00000301645.3	-	3	515	c.378C>T	c.(376-378)aaC>aaT	p.N126N		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	126					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				TGAAAGTGTCGTTTATGTTTT	0.443									Neonatal Giant Cell Hepatitis				A	59409693	G	A	59409693	2	1	483	1	0	0	0	0	0	0	0	1	4229	1136	40	1		1	CYP7A1	8	59409693	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	3875947	59409693	86954329	45	44957											
MPDZ	8777	broad.mit.edu	37	chr9	13206053	13206053	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtatgtcgcaatacctCtactgcttgctgattagtaa	9	15	7	10	1	1	1	0	1	1	0	3	1	2	1	2	0	4	5	2	0	6	6			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr9:13206053C>A	ENST00000319217.7	-	11	1583	c.1336G>T	c.(1336-1338)Gag>Tag	p.E446*	MPDZ_ENST00000447879.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000546205.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381022.2_Nonsense_Mutation_p.E446*|MPDZ_ENST00000541718.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000536827.1_Nonsense_Mutation_p.E446*|MPDZ_ENST00000381015.4_Nonsense_Mutation_p.E446*	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	446	PDZ 3.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		CGCAATACCTCTACTGCTTGC	0.393													A	13206053	C	A	13206053	4	1	483	1	0	0	0	0	0	1	0	0	9798	922	32	4	4933	4	MPDZ	9	13206053	Nonsense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		13206053	128007378	46	44958											
RTKN2	219790	broad.mit.edu	37	chr10	63957831	63957831	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagttttcgaggagcagccaTtggtttctgtaagtgatgca	10	13	12	6	1	1	1	0	1	1	0	2	3	1	2	1	2	3	5	1	2	2	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:63957831T>C	ENST00000373789.3	-	12	1762	c.1666A>G	c.(1666-1668)Atg>Gtg	p.M556V	RTKN2_ENST00000315289.2_Intron|RTKN2_ENST00000395265.1_Intron	NM_145307.2	NP_660350.2	Q8IZC4	RTKN2_HUMAN	rhotekin 2	556					signal transduction	intracellular				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Prostate(12;0.0297)|all_hematologic(501;0.215)					GGAGCAGCCATTGGTTTCTGT	0.428													C	63957831	T	C	63957831	3	2	483	1	0	0	0	0	1	0	0	0	13814	1493	52	3	167	3	RTKN2	10	63957831	Missense_Mutation	SNP	T	TCGA-FG-7643-01A-11D-2086-08		63957831	71576916	47	44959											
PLEKHA1	59338	broad.mit.edu	37	chr10	124157455	124157455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctaccttctggatcatcaCgtgttggagccattaagctt	9	13	8	11	1	3	0	2	0	1	0	3	2	3	2	3	2	3	2	3	2	2	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:124157455C>T	ENST00000368988.1	+	3	286	c.163C>T	c.(163-165)Cgt>Tgt	p.R55C	PLEKHA1_ENST00000494222.1_3'UTR|PLEKHA1_ENST00000433307.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000538022.1_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368989.2_Missense_Mutation_p.R55C|PLEKHA1_ENST00000368990.3_Missense_Mutation_p.R55C			Q9HB21	PKHA1_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 1	55	PH 1.				B cell receptor signaling pathway|cellular response to hydrogen peroxide|establishment of protein localization|negative regulation of protein kinase B signaling cascade|phosphatidylinositol 3-kinase cascade|ruffle organization	cytoplasm|nucleus|ruffle membrane	PDZ domain binding|phosphatidylinositol-3,4-bisphosphate binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|urinary_tract(1)	13		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TGGATCATCACGTGTTGGAGC	0.299													T	124157455	C	T	124157455	3	4	483	1	0	0	0	0	1	0	0	0	12132	536	19	1	169	1	PLEKHA1	10	124157455	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	60199624	124157455	11377292	48	44960											
EBF3	253738	broad.mit.edu	37	chr10	131761728	131761728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcacgaagtggaagaaattgGatttccggaggttggaaggc	12	8	16	5	2	0	1	0	0	0	1	1	6	1	5	1	6	0	2	1	6	4	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr10:131761728G>T	ENST00000368648.3	-	2	266	c.194C>A	c.(193-195)tCc>tAc	p.S65Y	EBF3_ENST00000355311.5_Missense_Mutation_p.S65Y	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	65	Interaction with DNA (By similarity).				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		GAAGAAATTGGATTTCCGGAG	0.612													T	131761728	G	T	131761728	3	4	483	1	0	0	0	0	1	0	0	0	4921	1174	41	4	1521	4	EBF3	10	131761728	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	7604273	131761728	3773019	49	44961											
NLRP6	171389	broad.mit.edu	37	chr11	281299	281299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggggtgcccaggaccgCggctggcggcgttgggacac	4	4	20	13	6	0	0	0	0	0	0	0	2	0	2	2	8	1	2	2	8	0	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:281299C>T	ENST00000534750.1	+	4	1770	c.1565C>T	c.(1564-1566)gCg>gTg	p.A522V	NLRP6_ENST00000312165.5_Missense_Mutation_p.A522V	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	522						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CCCAGGACCGCGGCTGGCGGC	0.677													T	281299	C	T	281299	3	4	483	1	0	0	0	0	1	0	0	0	10557	768	27	1	1579	1	NLRP6	11	281299	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		281299	134725217	50	44962											
OR52M1	119772	broad.mit.edu	37	chr11	4567000	4567000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagttgccttgacatgtggcGacagcagggtcaataatgtc	10	11	12	8	1	1	1	1	1	0	0	2	2	1	1	1	2	2	2	1	2	3	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4567000G>A	ENST00000360213.1	+	1	580	c.580G>A	c.(580-582)Gac>Aac	p.D194N		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		GACATGTGGCGACAGCAGGGT	0.512													A	4567000	G	A	4567000	3	1	483	1	0	0	0	0	1	0	0	0	11202	1058	37	1	582	1	OR52M1	11	4567000	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	4285701	4567000	130439516	51	44963											
OR51E1	143503	broad.mit.edu	37	chr11	4674486	4674486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaggcatttggcacttgcGtctctcatgtgtgtgctgtg	5	14	12	10	1	2	0	1	0	1	0	3	0	2	0	1	2	2	3	1	2	1	2	rs148787592		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:4674486G>A	ENST00000396952.5	+	2	1380	c.730G>A	c.(730-732)Gtc>Atc	p.V244I	OR51E1_ENST00000530215.1_Intron	NM_152430.3	NP_689643.2	Q8TCB6	O51E1_HUMAN	olfactory receptor, family 51, subfamily E, member 1	243					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V243I(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|skin(1)|stomach(2)	30		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;7.37e-14)|GBM - Glioblastoma multiforme(2;2.85e-05)|BRCA - Breast invasive adenocarcinoma(625;0.00222)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGCACTTGCGTCTCTCATGT	0.498													A	4674486	G	A	4674486	3	1	483	1	0	0	0	0	1	0	0	0	11170	1145	40	1	732	1	OR51E1	11	4674486	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	107486	4674486	130332030	52	44964											
COMMD9	29099	broad.mit.edu	37	chr11	36296235	36296235	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatgcggcccaggccatctaAcatggtgtccagtgtttctt	7	12	11	11	1	2	0	0	0	2	0	3	1	3	0	3	3	2	1	3	3	1	3			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:36296235A>T	ENST00000263401.5	-	6	560	c.544T>A	c.(544-546)Tta>Ata	p.L182I	COMMD9_ENST00000452374.2_Missense_Mutation_p.L140I|COMMD9_ENST00000532705.1_Missense_Mutation_p.V170D	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	182	COMM.									kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				AGGCCATCTAACATGGTGTCC	0.562													T	36296235	A	T	36296235	3	4	483	1	0	0	0	0	1	0	0	0	3754	40	2	5	56	5	COMMD9	11	36296235	Missense_Mutation	SNP	A	TCGA-FG-7643-01A-11D-2086-08	31621749	36296235	98710281	53	44965											
OR5D18	219438	broad.mit.edu	37	chr11	55587486	55587486	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatgaccgcttcgtggccatTtgcaaccctctgctctacac	7	12	7	15	2	2	1	0	1	2	0	3	1	2	1	3	1	4	3	3	1	3	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:55587486T>A	ENST00000333976.4	+	1	401	c.381T>A	c.(379-381)atT>atA	p.I127I		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	127					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCGTGGCCATTTGCAACCCTC	0.463													A	55587486	T	A	55587486	2	1	483	1	0	0	0	0	0	0	0	1	11233	1829	64	5		5	OR5D18	11	55587486	Silent	SNP	T	TCGA-FG-7643-01A-11D-2086-08	19291251	55587486	79419030	54	44966											
ROM1	6094	broad.mit.edu	37	chr11	62381890	62381890	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccaaaacctctgggccCaagggtgccatgaggtgctg	10	6	12	13	0	1	1	0	1	1	0	1	1	1	1	5	3	4	1	5	3	4	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:62381890C>T	ENST00000278833.3	+	2	1292	c.751C>T	c.(751-753)Caa>Taa	p.Q251*	ROM1_ENST00000534093.1_Silent_p.P41P	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	251					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						CCTCTGGGCCCAAGGGTGCCA	0.602													T	62381890	C	T	62381890	4	4	483	1	0	0	0	0	0	1	0	0	13612	595	21	2	757	2	ROM1	11	62381890	Nonsense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	6794404	62381890	72624626	55	44967											
SLC22A12	116085	broad.mit.edu	37	chr11	64367294	64367294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagccacctgggccgccGccccacgctggccgcatccc	4	4	12	21	4	0	1	0	1	0	0	1	1	1	1	8	2	1	3	8	2	0	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:64367294G>A	ENST00000377574.1	+	7	1964	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H	SLC22A12_ENST00000377567.2_Missense_Mutation_p.R298H|SLC22A12_ENST00000336464.7_Missense_Mutation_p.R372H|SLC22A12_ENST00000377572.1_Missense_Mutation_p.R298H|SLC22A12_ENST00000473690.1_Missense_Mutation_p.R185H	NM_144585.2	NP_653186.2	Q96S37	S22AC_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 12	406					cellular homeostasis|response to drug|urate metabolic process	apical plasma membrane|brush border membrane|integral to membrane	PDZ domain binding|urate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27						CTGGGCCGCCGCCCCACGCTG	0.642													A	64367294	G	A	64367294	3	1	483	1	0	0	0	0	1	0	0	0	14537	1087	38	1	1243	1	SLC22A12	11	64367294	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	1985404	64367294	70639222	56	44968											
TMEM151A	256472	broad.mit.edu	37	chr11	66063102	66063102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cggagacagcggctgccaggGggatgggcagggtgctctct	6	6	19	10	2	1	1	0	0	1	1	2	3	1	2	1	6	3	3	1	6	0	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:66063102G>A	ENST00000327259.4	+	2	1529	c.1385G>A	c.(1384-1386)gGg>gAg	p.G462E		NM_153266.3	NP_694998.1	Q8N4L1	T151A_HUMAN	transmembrane protein 151A	462						integral to membrane				central_nervous_system(1)|kidney(4)|lung(6)	11						GGCTGCCAGGGGGATGGGCAG	0.657													A	66063102	G	A	66063102	3	1	483	1	0	0	0	0	1	0	0	0	16170	1232	43	2	1391	2	TMEM151A	11	66063102	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	1695808	66063102	68943414	57	44969											
FOLH1B	219595	broad.mit.edu	37	chr11	89407164	89407165	+	RNA	INS	-	-	T																															cttcccaaaccatcaatgacINSttttttttttttccccaatc																								rs72449667		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr11:89407164_89407165insT	ENST00000532352.1	+	0	1114							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						CCATCAATGACTTTTTTTTTTT	0.302													T	89407165	-	T	89407164	6	5	483	0	1	1	1	0	0	0	0	0	6029	580	20	0		0	FOLH1B	11	89407164	RNA	INS	-	TCGA-FG-7643-01A-11D-2086-08	23344062	89407164	45599352	58	44970											
SLC6A13	6540	broad.mit.edu	37	chr12	346452	346452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagagatcttcaagacccGccgcctggggagagaagggt	11	6	14	10	2	3	3	2	0	1	3	3	6	3	4	3	3	0	0	3	3	2	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:346452G>A	ENST00000343164.4	-	6	620	c.568C>T	c.(568-570)Cgg>Tgg	p.R190W	SLC6A13_ENST00000445055.2_Missense_Mutation_p.R98W	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	190					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TTCAAGACCCGCCGCCTGGGG	0.617													A	346452	G	A	346452	3	1	483	1	0	0	0	0	1	0	0	0	14770	1086	38	1	1280	1	SLC6A13	12	346452	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		346452	133505443	59	44971											
TAS2R8	50836	broad.mit.edu	37	chr12	10959421	10959421	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgatcaaacaaattctggcGataactaaattggtaaggat	16	11	8	6	1	2	1	1	1	1	0	2	3	2	2	0	3	2	1	0	3	6	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:10959421G>A	ENST00000240615.2	-	1	471	c.159C>T	c.(157-159)atC>atT	p.I53I		NM_023918.1	NP_076407.1	Q9NYW2	TA2R8_HUMAN	taste receptor, type 2, member 8	53					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						AAATTCTGGCGATAACTAAAT	0.328													A	10959421	G	A	10959421	2	1	483	1	0	0	0	0	0	0	0	1	15684	1048	37	1		1	TAS2R8	12	10959421	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	10612969	10959421	122892474	60	44972											
GRIN2B	2904	broad.mit.edu	37	chr12	13716623	13716623	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgccgtgtttgtcgccCgtcccgtgcttgatgtgaga	5	11	12	13	5	0	2	0	2	0	1	2	3	1	2	4	0	1	2	4	0	0	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13716623C>T	ENST00000609686.1	-	13	3758	c.3549G>A	c.(3547-3549)acG>acA	p.T1183T		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTTGTCGCCCGTCCCGTGCT	0.617													T	13716623	C	T	13716623	2	4	483	1	0	0	0	0	0	0	0	1	6835	639	23	1		1	GRIN2B	12	13716623	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	2757202	13716623	120135272	61	44973											
GRIN2B	2904	broad.mit.edu	37	chr12	13906702	13906702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctattctcaatggtgctgcGgatcttgtttacaaagtcct	8	15	9	9	1	2	0	1	0	2	0	4	1	3	1	1	2	3	3	1	2	4	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr12:13906702G>A	ENST00000609686.1	-	3	768	c.559C>T	c.(559-561)Cgc>Tgc	p.R187C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.R187C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	ATGGTGCTGCGGATCTTGTTT	0.473													A	13906702	G	A	13906702	3	1	483	1	0	0	0	0	1	0	0	0	6835	1116	39	1	3939	1	GRIN2B	12	13906702	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	190079	13906702	119945193	62	44974											
CLN5	1203	broad.mit.edu	37	chr13	77570092	77570092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaactggcaagaactacaCaatggaatggtatgaacttt	16	11	8	6	0	0	2	0	1	0	1	0	3	0	3	0	3	4	2	0	3	8	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr13:77570092C>T	ENST00000377453.3	+	3	1834	c.542C>T	c.(541-543)aCa>aTa	p.T181I	CLN5_ENST00000485938.1_3'UTR	NM_006493.2	NP_006484.1	O75503	CLN5_HUMAN	ceroid-lipofuscinosis, neuronal 5	132					brain development|cell death|lysosomal lumen acidification|neuron maturation|protein catabolic process	endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	16		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0503)		AAGAACTACACAATGGAATGG	0.423													T	77570092	C	T	77570092	3	4	483	1	0	0	0	0	1	0	0	0	3575	478	17	2	552	2	CLN5	13	77570092	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		77570092	37599786	63	44975											
LTBP2	4053	broad.mit.edu	37	chr14	75017918	75017918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctggcaggcagccagggcGggggtctggtctccacgctg	4	6	19	12	2	2	0	0	0	2	0	3	0	2	0	2	7	1	4	2	7	0	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr14:75017918G>A	ENST00000261978.4	-	7	1921	c.1535C>T	c.(1534-1536)cCg>cTg	p.P512L	LTBP2_ENST00000557425.1_5'UTR|LTBP2_ENST00000556690.1_Missense_Mutation_p.P512L	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	512					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		CAGCCAGGGCGGGGGTCTGGT	0.706													A	75017918	G	A	75017918	3	1	483	1	0	0	0	0	1	0	0	0	9144	1116	39	1	4050	1	LTBP2	14	75017918	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		75017918	32331622	64	44976											
C15orf54	400360	broad.mit.edu	37	chr15	39544388	39544388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtggcaggagaccccagaggGctgagccgcaaagaatttgc	11	5	15	10	1	0	4	0	1	0	3	0	5	0	4	3	3	2	3	3	3	2	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:39544388G>A	ENST00000318578.3	+	2	420	c.52G>A	c.(52-54)Gct>Act	p.A18T	RP11-624L4.1_ENST00000560484.1_RNA|RP11-624L4.1_ENST00000558209.1_RNA|RP11-624L4.1_ENST00000561058.1_RNA|C15orf54_ENST00000561223.1_Missense_Mutation_p.A18T	NM_207445.2	NP_997328.1	Q8N8G6	CO054_HUMAN	chromosome 15 open reading frame 54	18										NS(1)|haematopoietic_and_lymphoid_tissue(2)|lung(2)	5		all_cancers(109;5.39e-14)|all_epithelial(112;3.14e-12)|Lung NSC(122;9.74e-10)|all_lung(180;2.23e-08)|Melanoma(134;0.091)|Colorectal(260;0.198)		GBM - Glioblastoma multiforme(113;1.19e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0706)		ACCCCAGAGGGCTGAGCCGCA	0.468													A	39544388	G	A	39544388	3	1	483	1	0	0	0	0	1	0	0	0	1815	1203	42	2	54	2	C15orf54	15	39544388	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		39544388	62987004	65	44977											
TPM1	7168	broad.mit.edu	37	chr15	63362113	63362113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaaatcgccgcctcactaatGaactaaagctggccctgaat	14	8	7	12	2	1	2	1	2	0	0	2	2	1	2	3	1	2	1	3	1	7	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:63362113G>A	ENST00000334895.5	+	8	919	c.709G>A	c.(709-711)Gaa>Aaa	p.E237K	TPM1_ENST00000404484.4_Intron|TPM1_ENST00000267996.7_Intron|TPM1_ENST00000357980.4_Intron|TPM1_ENST00000559397.1_Intron|TPM1_ENST00000317516.7_Missense_Mutation_p.E237K|TPM1_ENST00000358278.3_Intron|TPM1_ENST00000559556.1_Intron	NM_001018008.1	NP_001018008.1	P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	273					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CCTCACTAATGAACTAAAGCT	0.458													A	63362113	G	A	63362113	3	1	483	1	0	0	0	0	1	0	0	0	16506	1291	45	2	1292	2	TPM1	15	63362113	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	23817725	63362113	39169279	66	44978											
IL16	3603	broad.mit.edu	37	chr15	81592440	81592440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgtctgagtcccctcccCcagggcggcagcccaatcag	6	7	12	16	1	2	1	1	1	1	0	4	1	4	1	5	2	1	1	5	2	1	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:81592440C>G	ENST00000394660.2	+	14	3133	c.2773C>G	c.(2773-2775)Cca>Gca	p.P925A	IL16_ENST00000302987.4_Missense_Mutation_p.P925A|IL16_ENST00000394652.2_Missense_Mutation_p.P224A	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	925					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GTCCCCTCCCCCAGGGCGGCA	0.642													G	81592440	C	G	81592440	3	3	483	1	0	0	0	0	1	0	0	0	7691	623	22	4	2823	4	IL16	15	81592440	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08	18230327	81592440	20938952	67	44979											
FAM169B	283777	broad.mit.edu	37	chr15	99023868	99023868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacccaacagccgctccacGtctccacaggattttagctt	11	9	6	15	2	1	0	0	0	1	0	3	1	2	1	4	1	4	2	4	1	3	3	rs141122936	by1000genomes	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr15:99023868G>A	ENST00000558256.1	-	4	394	c.145C>T	c.(145-147)Cgt>Tgt	p.R49C	FAM169B_ENST00000332908.4_Missense_Mutation_p.R49C	NM_182562.2	NP_872368.2	Q8N8A8	F169B_HUMAN	family with sequence similarity 169, member B	49										large_intestine(3)|lung(3)|urinary_tract(1)	7						GCCGCTCCACGTCTCCACAGG	0.473													A	99023868	G	A	99023868	3	1	483	1	0	0	0	0	1	0	0	0	5533	1145	40	1	449	1	FAM169B	15	99023868	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	17431428	99023868	3507524	68	44980											
PIGQ	9091	broad.mit.edu	37	chr16	633562	633562	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgctgacccccgtccccagCgggcccgggccctcactccc	3	5	10	23	4	1	1	1	1	0	0	4	1	3	1	7	2	1	1	7	2	0	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr16:633562C>T	ENST00000026218.5	+	10	2299	c.2211C>T	c.(2209-2211)agC>agT	p.S737S	PIGQ_ENST00000321878.5_3'UTR	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	737					C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				CCGTCCCCAGCGGGCCCGGGC	0.627													T	633562	C	T	633562	2	4	483	1	0	0	0	0	0	0	0	1	11973	767	27	1		1	PIGQ	16	633562	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08		633562	89721191	69	44981											
KRT27	342574	broad.mit.edu	37	chr17	38933849	38933849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaaggagctgctcatactCgagcttctggccctcggtct	6	11	11	13	2	4	0	2	0	2	0	6	2	4	1	1	3	4	3	1	3	2	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:38933849C>T	ENST00000301656.3	-	6	1148	c.1108G>A	c.(1108-1110)Gag>Aag	p.E370K	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	370	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TGCTCATACTCGAGCTTCTGG	0.547													T	38933849	C	T	38933849	3	4	483	1	0	0	0	0	1	0	0	0	8522	893	31	1	283	1	KRT27	17	38933849	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		38933849	42261361	70	44982											
MAP3K3	4215	broad.mit.edu	37	chr17	61765935	61765935	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccagagcttccctgaCaacagacaggaatactcagg	12	6	10	13	1	1	3	1	1	0	2	2	4	2	4	2	2	4	1	2	2	3	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:61765935C>T	ENST00000361357.3	+	10	1170	c.852C>T	c.(850-852)gaC>gaT	p.D284D	MAP3K3_ENST00000577784.1_3'UTR|MAP3K3_ENST00000361733.3_Silent_p.D253D|MAP3K3_ENST00000577395.1_Silent_p.D249D|MAP3K3_ENST00000579585.1_Silent_p.D284D|MAP3K3_ENST00000584573.1_Silent_p.D280D	NM_203351.1	NP_976226.1	Q99759	M3K3_HUMAN	mitogen-activated protein kinase kinase kinase 3	253					MAPKKK cascade|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autophosphorylation	cytosol	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	28						GCTTCCCTGACAACAGACAGG	0.537													T	61765935	C	T	61765935	2	4	483	1	0	0	0	0	0	0	0	1	9326	477	17	2		2	MAP3K3	17	61765935	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	22832086	61765935	19429275	71	44983											
CD300E	342510	broad.mit.edu	37	chr17	72613303	72613303	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgagggatcgcgtgaccaTgaatccaggacccacactgt	10	7	11	13	3	0	2	0	2	0	0	3	5	2	4	4	2	0	0	4	2	1	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr17:72613303T>C	ENST00000392619.1	-	2	458	c.423A>G	c.(421-423)tcA>tcG	p.S141S	CD300E_ENST00000328630.3_Silent_p.S114S|CD300E_ENST00000426295.2_Silent_p.S155S	NM_181449.2	NP_852114.2	Q496F6	CLM2_HUMAN	CD300e molecule	114						integral to membrane|plasma membrane	receptor activity			breast(1)|kidney(3)|large_intestine(4)|lung(4)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	19						CGCGTGACCATGAATCCAGGA	0.547													C	72613303	T	C	72613303	2	2	483	1	0	0	0	0	0	0	0	1	3028	1451	51	3		3	CD300E	17	72613303	Silent	SNP	T	TCGA-FG-7643-01A-11D-2086-08	10847368	72613303	8581907	72	44984											
NOTCH3	4854	broad.mit.edu	37	chr19	15271630	15271630	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagtggctgggctaggcGtggattcggaccagtctgag	6	9	18	8	2	1	1	0	1	1	0	2	3	1	3	1	6	0	3	1	6	1	2	rs148716935		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:15271630G>A	ENST00000263388.2	-	33	6884	c.6809C>T	c.(6808-6810)aCg>aTg	p.T2270M		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2270					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TGGGCTAGGCGTGGATTCGGA	0.667													A	15271630	G	A	15271630	3	1	483	1	0	0	0	0	1	0	0	0	10626	1145	40	1	160	1	NOTCH3	19	15271630	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08		15271630	43857353	73	44985											
ATP4A	495	broad.mit.edu	37	chr19	36045932	36045932	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctctgggatgttcttggtCaatgtgtaggcaatagactt	9	14	12	6	0	3	1	1	0	2	1	3	2	3	2	0	3	1	4	0	3	4	5			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:36045932C>T	ENST00000262623.3	-	16	2401	c.2373G>A	c.(2371-2373)ttG>ttA	p.L791L		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	791					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TGTTCTTGGTCAATGTGTAGG	0.572													T	36045932	C	T	36045932	2	4	483	1	0	0	0	0	0	0	0	1	1150	825	29	2		2	ATP4A	19	36045932	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	20774302	36045932	23083051	74	44986											
RYR1	6261	broad.mit.edu	37	chr19	38976395	38976395	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcacgccctggaggacgcGcacctgccaggcccactgcg	6	4	13	18	4	0	0	0	0	0	0	0	2	0	2	4	3	3	2	4	3	0	0			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr19:38976395G>T	ENST00000355481.4	+	34	5231	c.5100G>T	c.(5098-5100)gcG>gcT	p.A1700A	RYR1_ENST00000359596.3_Silent_p.A1700A|RYR1_ENST00000360985.3_Silent_p.A1700A	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1700	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TGGAGGACGCGCACCTGCCAG	0.652													T	38976395	G	T	38976395	2	4	483	1	0	0	0	0	0	0	0	1	13859	1074	38	4		4	RYR1	19	38976395	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	2930463	38976395	20152588	75	44987											
PTPN1	5770	broad.mit.edu	37	chr20	49195082	49195082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtcagggtcactcagcccGgagcacgggcccgttgtggt	6	7	16	12	3	3	0	3	0	0	0	3	2	3	1	2	4	2	2	2	4	0	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:49195082G>A	ENST00000371621.3	+	6	792	c.618G>A	c.(616-618)ccG>ccA	p.P206P	PTPN1_ENST00000541713.1_Silent_p.P133P	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	206	Tyrosine-protein phosphatase.				blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	CACTCAGCCCGGAGCACGGGC	0.557													A	49195082	G	A	49195082	2	1	483	1	0	0	0	0	0	0	0	1	12865	1103	39	1		1	PTPN1	20	49195082	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08		49195082	13830438	76	44988											
ZNF831	128611	broad.mit.edu	37	chr20	57766794	57766794	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggggatgcacgaaggCgcctcggagagacccctttc	8	6	14	13	3	0	1	0	0	0	1	2	5	0	3	4	4	2	1	4	4	1	1			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:57766794C>T	ENST00000371030.2	+	1	720	c.720C>T	c.(718-720)ggC>ggT	p.G240G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	240						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TGCACGAAGGCGCCTCGGAGA	0.687													T	57766794	C	T	57766794	2	4	483	1	0	0	0	0	0	0	0	1	18284	755	27	1		1	ZNF831	20	57766794	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	8571712	57766794	5258726	77	44989											
RTEL1	51750	broad.mit.edu	37	chr20	62324212	62324212	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcttcatggtggccGtgaagcaggagttgagccaa	10	8	13	10	1	2	2	1	2	1	0	2	3	2	3	3	3	3	3	3	3	3	2	rs143317975		TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr20:62324212G>A	ENST00000318100.4	+	29	3534	c.2707G>A	c.(2707-2709)Gtg>Atg	p.V903M	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.V903M|RTEL1_ENST00000370003.1_Missense_Mutation_p.V148M|RTEL1_ENST00000360203.5_Missense_Mutation_p.V903M|RTEL1_ENST00000508582.2_Missense_Mutation_p.V927M|RTEL1_ENST00000370018.3_Missense_Mutation_p.V903M	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	903					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CATGGTGGCCGTGAAGCAGGA	0.642													A	62324212	G	A	62324212	3	1	483	1	0	0	0	0	1	0	0	0	13811	1145	40	1	2817	1	RTEL1	20	62324212	Missense_Mutation	SNP	G	TCGA-FG-7643-01A-11D-2086-08	4557418	62324212	701308	78	44990											
CYYR1	116159	broad.mit.edu	37	chr21	27852702	27852702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaatcccagcaatgacccCcatgataaatactattccaa	15	8	5	13	0	0	2	0	2	0	0	2	2	2	2	4	1	2	2	4	1	7	4			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:27852702C>A	ENST00000299340.4	-	3	566	c.223G>T	c.(223-225)Ggg>Tgg	p.G75W	CYYR1_ENST00000400043.3_Missense_Mutation_p.G75W|CYYR1_ENST00000435845.2_3'UTR|AP001597.1_ENST00000414486.1_RNA|AP001597.1_ENST00000357401.3_RNA	NM_052954.2	NP_443186.1	Q96J86	CYYR1_HUMAN	cysteine/tyrosine-rich 1	75						integral to membrane				large_intestine(2)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	15						GCAATGACCCCCATGATAAAT	0.463													A	27852702	C	A	27852702	3	1	483	1	0	0	0	0	1	0	0	0	4244	623	22	4	249	4	CYYR1	21	27852702	Missense_Mutation	SNP	C	TCGA-FG-7643-01A-11D-2086-08		27852702	20277193	79	44991											
PRDM15	63977	broad.mit.edu	37	chr21	43259793	43259794	+	Frame_Shift_Del	DEL	TC	TC	-																															gctttggacactttgggtttTctcccccttcgaggcttttt																										TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chr21:43259793_43259794delTC	ENST00000422911.1	-	7	1021_1022	c.920_921delGA	c.(919-921)agafs	p.R307fs	PRDM15_ENST00000538201.1_Frame_Shift_Del_p.R270fs|PRDM15_ENST00000398548.1_Frame_Shift_Del_p.R307fs|PRDM15_ENST00000447207.2_Frame_Shift_Del_p.R270fs|PRDM15_ENST00000269844.3_Frame_Shift_Del_p.R636fs	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CTTTGGGTTTTCTCCCCCTTCG	0.599													-	43259794	TC	-	43259793	7	5	483	1	0	1	0	1	0	0	0	0	12542	1780	62	0	2687	0	PRDM15	21	43259793	Frame_Shift_Del	DEL	TC	TCGA-FG-7643-01A-11D-2086-08	15407091	43259793	4870102	80	44992											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	483	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-FG-7643-01A-11D-2086-08		37028425	118242135	81	44993											
ZXDA	7789	broad.mit.edu	37	chrX	57934557	57934557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaactgggtttctccctcCtgtccaaagaagtcagagtt	10	11	8	12	0	2	2	1	0	1	2	5	2	4	2	4	1	1	2	4	1	3	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:57934557C>T	ENST00000358697.4	-	1	2510	c.2298G>A	c.(2296-2298)caG>caA	p.Q766Q		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	766					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TTTCTCCCTCCTGTCCAAAGA	0.468													T	57934557	C	T	57934557	2	4	483	1	0	0	0	0	0	0	0	1	18347	680	24	2		2	ZXDA	23	57934557	Silent	SNP	C	TCGA-FG-7643-01A-11D-2086-08	20906132	57934557	97336003	82	44994											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	6	11	8	16	0	4	0	3	0	1	0	7	2	6	2	4	3	1	0	4	3	1	2			TCGA-FG-7643-01A-11D-2086-08	TCGA-FG-7643-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bf459ac-bd93-4bca-a642-fd64e9eb6783	d0e20b08-cf3b-41e9-a116-5f157de4a40b	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			A	140994960	G	A	140994960	2	1	483	1	0	0	0	0	0	0	0	1	9255	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-FG-7643-01A-11D-2086-08	83060403	140994960	14275600	83	44995											
FAM71B	153745	broad.mit.edu	37	chr5	156589827	156589827	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccttacgttgctgtacccTttttcttttttgtcatctct	3	21	4	13	1	3	0	1	0	2	0	4	0	3	0	3	0	3	3	3	0	2	8			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr5:156589827T>C	ENST00000302938.4	-	2	1544	c.1449A>G	c.(1447-1449)aaA>aaG	p.K483K		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	483						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCTGTACCCTTTTTCTTTTT	0.532													C	156589827	T	C	156589827	2	2	484	1	0	0	0	0	0	0	0	1	5658	1606	56	3		3	FAM71B	5	156589827	Silent	SNP	T	TCGA-FG-8181-01A-11D-2253-08		156589827	24325433	1	44996											
GIGYF1	64599	broad.mit.edu	37	chr7	100280978	100280980	+	In_Frame_Del	DEL	CTG	CTG	-																															tgccgccgcttctgctcctcCtgctgctgctggcggcgctt																										TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr7:100280978_100280980delCTG	ENST00000275732.5	-	18	3349_3351	c.2140_2142delCAG	c.(2140-2142)cagdel	p.Q714del		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	714										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TCTGCTCCTCCTGCTGCTGCTGG	0.65													-	100280980	CTG	-	100280978	7	5	484	1	0	1	0	1	0	0	0	0	6433	680	24	0	993	0	GIGYF1	7	100280978	In_Frame_Del	DEL	CTG	TCGA-FG-8181-01A-11D-2253-08		100280978	58857685	2	44997											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396278	118396279	+	RNA	INS	-	-	T																															gactaacagacaaattatggINSttttttttttccactagagt																								rs11197776	by1000genomes	TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr10:118396278_118396279insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000298771.7_RNA|PNLIPRP2_ENST00000433618.4_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426													T	118396279	-	T	118396278	6	5	484	0	1	1	1	0	0	0	0	0	12228	1276	44	0		0	PNLIPRP2	10	118396278	RNA	INS	-	TCGA-FG-8181-01A-11D-2253-08		118396278	17138469	3	44998											
FAT3	120114	broad.mit.edu	37	chr11	92570859	92570859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctctgcttgtccaggccGtagacagtggcattcctgca	7	11	10	13	1	1	1	0	0	1	1	4	1	3	1	3	2	2	4	3	2	1	3			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr11:92570859G>A	ENST00000298047.6	+	16	10272	c.10255G>A	c.(10255-10257)Gta>Ata	p.V3419I	FAT3_ENST00000409404.2_Missense_Mutation_p.V3419I|FAT3_ENST00000525166.1_Missense_Mutation_p.V3269I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3419	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TGTCCAGGCCGTAGACAGTGG	0.478										TCGA Ovarian(4;0.039)			A	92570859	G	A	92570859	3	1	484	1	0	0	0	0	1	0	0	0	5740	1145	40	1	10317	1	FAT3	11	92570859	Missense_Mutation	SNP	G	TCGA-FG-8181-01A-11D-2253-08		92570859	42435657	4	44999											
ZNF14	7561	broad.mit.edu	37	chr19	19822190	19822190	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctctcccatatgagtcctttCatgcagtcgaaagtgactgg	9	12	9	11	1	2	2	1	2	1	0	5	3	3	2	2	1	1	1	2	1	2	2			TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr19:19822190C>G	ENST00000344099.3	-	4	2038	c.1900G>C	c.(1900-1902)Gaa>Caa	p.E634Q		NM_021030.2	NP_066358.2	P17017	ZNF14_HUMAN	zinc finger protein 14	634					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32		Renal(1328;0.0474)				TGAGTCCTTTCATGCAGTCGA	0.403													G	19822190	C	G	19822190	3	3	484	1	0	0	0	0	1	0	0	0	17829	835	29	4	32	4	ZNF14	19	19822190	Missense_Mutation	SNP	C	TCGA-FG-8181-01A-11D-2253-08		19822190	39306793	5	45000											
RPN2	6185	broad.mit.edu	37	chr20	35812668	35812668	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacctcaccaagcatgaCgtggagagactaaaagcctc	14	6	8	13	1	1	2	1	1	0	1	2	4	1	3	3	1	3	1	3	1	4	2	rs62206558		TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chr20:35812668C>T	ENST00000237530.6	+	2	410	c.99C>T	c.(97-99)gaC>gaT	p.D33D	RPN2_ENST00000373622.5_Silent_p.D33D	NM_002951.3	NP_002942.2	P04844	RPN2_HUMAN	ribophorin II	33					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|nucleus|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding	p.D33D(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|skin(2)|stomach(1)	24		Myeloproliferative disorder(115;0.00878)				CCAAGCATGACGTGGAGAGAC	0.547													T	35812668	C	T	35812668	2	4	484	1	0	0	0	0	0	0	0	1	13699	535	19	1		1	RPN2	20	35812668	Silent	SNP	C	TCGA-FG-8181-01A-11D-2253-08		35812668	27212852	6	45001											
KLHL34	257240	broad.mit.edu	37	chrX	21674920	21674922	+	In_Frame_Del	DEL	CTC	CTC	-																															acgttctgggtgagctcccaCtcctcctcctcctcctcttc																										TCGA-FG-8181-01A-11D-2253-08	TCGA-FG-8181-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e783a0c-6e1a-42a7-9356-19a047593814	e2aa9ddd-903d-4888-95a7-63467ac504af	g.chrX:21674920_21674922delCTC	ENST00000379499.2	-	1	1526_1528	c.985_987delGAG	c.(985-987)gagdel	p.E329del		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	329	Glu-rich.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						TGAGCTCCCActcctcctcctcc	0.65													-	21674922	CTC	-	21674920	7	5	484	1	0	1	0	1	0	0	0	0	8445	564	20	0	951	0	KLHL34	23	21674920	In_Frame_Del	DEL	CTC	TCGA-FG-8181-01A-11D-2253-08		21674920	133595640	7	45002											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998823	7998823	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggtcctttgtccacctgCgctggagaaactatttggag	9	11	11	10	1	0	1	0	0	0	1	2	3	2	2	3	3	2	1	3	3	2	3	rs9657963	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:7998823C>T	ENST00000377507.3	-	3	332	c.166G>A	c.(166-168)Gca>Aca	p.A56T		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	56			A -> T (in dbSNP:rs9657963).		induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		TGTCCACCTGCGCTGGAGAAA	0.408													T	7998823	C	T	7998823	3	4	485	1	0	0	0	0	1	0	0	0	16400	768	27	1	625	1	TNFRSF9	1	7998823	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		7998823	241251798	1	45003											
PADI3	51702	broad.mit.edu	37	chr1	17586174	17586174	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccgggagcgtgcagacaCcaggcggtggcgctttgacg	6	5	19	11	5	0	2	0	1	0	1	0	3	0	3	2	5	2	2	2	5	0	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:17586174C>A	ENST00000375460.3	+	2	234	c.194C>A	c.(193-195)aCc>aAc	p.T65N		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	65					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	CGTGCAGACACCAGGCGGTGG	0.592													A	17586174	C	A	17586174	3	1	485	1	0	0	0	0	1	0	0	0	11455	507	18	4	200	4	PADI3	1	17586174	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	9587351	17586174	231664447	2	45004											
DNAJC6	9829	broad.mit.edu	37	chr1	65858364	65858364	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctctccgccagcggcTcctcccaccaattctgaact	7	10	6	18	2	2	1	0	1	2	0	6	1	5	1	5	1	3	2	5	1	2	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:65858364T>G	ENST00000395325.3	+	12	1705	c.1548T>G	c.(1546-1548)gcT>gcG	p.A516A	DNAJC6_ENST00000371069.4_Silent_p.A573A|DNAJC6_ENST00000263441.7_Silent_p.A503A	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	516	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						CGCCAGCGGCTCCTCCCACCA	0.582													G	65858364	T	G	65858364	2	3	485	1	0	0	0	0	0	0	0	1	4692	1538	54	5		5	DNAJC6	1	65858364	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	48272190	65858364	183392257	3	45005											
PRG4	10216	broad.mit.edu	37	chr1	186276306	186276306	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaagagcctgcacccacTgcccccaagaagcctgcccc	10	3	7	21	0	0	2	0	0	0	2	0	2	0	2	8	0	5	1	8	0	3	0	rs78867190	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr1:186276306T>C	ENST00000445192.2	+	7	1500	c.1455T>C	c.(1453-1455)acT>acC	p.T485T	PRG4_ENST00000367486.3_Silent_p.T442T|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Silent_p.T392T|PRG4_ENST00000367483.4_Silent_p.T444T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	485	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.T485T(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						CTGCACCCACTGCCCCCAAGA	0.652													C	186276306	T	C	186276306	2	2	485	1	0	0	0	0	0	0	0	1	12567	1567	55	3		3	PRG4	1	186276306	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	120417942	186276306	62974315	4	45006											
MYO3B	140469	broad.mit.edu	37	chr2	171509614	171509614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatcctcaaaaggagacTcttttgctcaacattaaatt	13	14	4	10	0	4	1	3	0	1	1	5	2	5	1	1	1	2	1	1	1	5	5			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:171509614T>C	ENST00000334231.6	+	35	4036	c.4036T>C	c.(4036-4038)Tct>Cct	p.S1346P	MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.S1310P|AC007277.3_ENST00000428156.1_RNA|MYO3B_ENST00000408978.4_Missense_Mutation_p.S1337P			Q8WXR4	MYO3B_HUMAN	myosin IIIB	1337					response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AAAAGGAGACTCTTTTGCTCA	0.418													C	171509614	T	C	171509614	3	2	485	1	0	0	0	0	1	0	0	0	10153	1551	54	3	4273	3	MYO3B	2	171509614	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		171509614	71689759	5	45007											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	485	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	37603498	209113112	34086261	6	45008											
RPL37A	6168	broad.mit.edu	37	chr2	217364056	217364056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctatggggcctccctcCggaaaatggtgaagaaaatt	11	8	11	11	2	0	2	0	1	0	1	2	3	2	3	4	4	0	1	4	4	6	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217364056C>T	ENST00000491306.1	+	2	753	c.67C>T	c.(67-69)Cgg>Tgg	p.R23W	RPL37A_ENST00000600880.1_Missense_Mutation_p.R23W|RPL37A_ENST00000456586.1_5'UTR|RPL37A_ENST00000598925.1_5'UTR|RPL37A_ENST00000446558.1_Missense_Mutation_p.R23W|RPL37A_ENST00000441179.2_5'UTR|RPL37A_ENST00000427280.2_5'UTR	NM_000998.4	NP_000989.1	P61513	RL37A_HUMAN	ribosomal protein L37a	23					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|ribosome	metal ion binding|protein binding|structural constituent of ribosome			NS(1)|ovary(1)	2		Renal(323;0.0458)		Epithelial(149;3.51e-06)|all cancers(144;0.000249)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGCCTCCCTCCGGAAAATGGT	0.502													T	217364056	C	T	217364056	3	4	485	1	0	0	0	0	1	0	0	0	13681	643	23	1	73	1	RPL37A	2	217364056	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	8250944	217364056	25835317	7	45009											
IGFBP2	3485	broad.mit.edu	37	chr2	217525369	217525369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggggaggcagtgctggcCggaagcccctcaagtcgggt	6	5	19	11	3	1	0	1	0	0	0	2	2	1	2	3	6	2	2	3	6	2	0			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:217525369C>T	ENST00000233809.4	+	2	661	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	IGFBP2_ENST00000456764.1_Missense_Mutation_p.R34W	NM_000597.2	NP_000588	P18065	IBP2_HUMAN	insulin-like growth factor binding protein 2, 36kDa	178					positive regulation of activated T cell proliferation|regulation of cell growth|regulation of insulin-like growth factor receptor signaling pathway	extracellular space	insulin-like growth factor I binding|insulin-like growth factor II binding			endometrium(2)|large_intestine(1)|lung(2)	5		Renal(323;0.0458)		Epithelial(149;2.9e-06)|all cancers(144;0.000223)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00968)		CAGTGCTGGCCGGAAGCCCCT	0.612													T	217525369	C	T	217525369	3	4	485	1	0	0	0	0	1	0	0	0	7637	643	23	1	538	1	IGFBP2	2	217525369	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	161313	217525369	25674004	8	45010											
COL6A3	1293	broad.mit.edu	37	chr2	238277572	238277572	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccagtgttcagtggggAcccccctctgagcctcaggc	5	9	12	15	0	3	1	2	1	1	0	3	2	3	2	5	3	2	1	5	3	0	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr2:238277572A>G	ENST00000295550.4	-	10	4986	c.4534T>C	c.(4534-4536)Tcc>Ccc	p.S1512P	COL6A3_ENST00000347401.3_Missense_Mutation_p.S1311P|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1306P|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1312P|COL6A3_ENST00000472056.1_Missense_Mutation_p.S905P|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1306P	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1512	Nonhelical region.|VWFA 8.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		TTCAGTGGGGACCCCCCTCTG	0.562													G	238277572	A	G	238277572	3	3	485	1	0	0	0	0	1	0	0	0	3732	275	10	3	5139	3	COL6A3	2	238277572	Missense_Mutation	SNP	A	TCGA-FG-8182-01A-11D-2253-08	20752203	238277572	4921801	9	45011											
ADAMTS9	56999	broad.mit.edu	37	chr3	64526873	64526873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcatcgcgccggctccCgttatagggacattctgttg	6	11	12	12	4	2	0	1	0	1	0	4	1	3	1	2	2	0	4	2	2	2	4			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr3:64526873C>T	ENST00000498707.1	-	36	5761	c.5419G>A	c.(5419-5421)Ggg>Agg	p.G1807R	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.G1779R	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1807	GON.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CGCCGGCTCCCGTTATAGGGA	0.473													T	64526873	C	T	64526873	3	4	485	1	0	0	0	0	1	0	0	0	273	652	23	1	404	1	ADAMTS9	3	64526873	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		64526873	133495557	10	45012											
KIAA1430	57587	broad.mit.edu	37	chr4	186085257	186085257	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgagatagcccatattgCgatgatagtccatcagttgt	11	13	10	7	1	1	2	1	2	0	1	2	4	2	2	2	0	2	2	2	0	3	6			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr4:186085257C>A	ENST00000458385.2	-	4	1516	c.1397G>T	c.(1396-1398)cGc>cTc	p.R466L		NM_020827.1	NP_065878.1	Q9P2B7	K1430_HUMAN	KIAA1430	466										endometrium(3)|kidney(2)|large_intestine(5)|upper_aerodigestive_tract(1)	11		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;9.44e-26)|Epithelial(43;2.64e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.66e-11)|Colorectal(24;6.03e-05)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000331)|COAD - Colon adenocarcinoma(29;0.000427)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00924)|READ - Rectum adenocarcinoma(43;0.165)		GCCCATATTGCGATGATAGTC	0.383													A	186085257	C	A	186085257	3	1	485	1	0	0	0	0	1	0	0	0	8290	768	27	4	209	4	KIAA1430	4	186085257	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		186085257	5069019	11	45013											
BRD8	10902	broad.mit.edu	37	chr5	137501597	137501597	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagacacagcaatatccaTcttctcagccagatctaatt	14	11	5	11	0	3	2	1	0	3	2	5	2	4	2	2	0	2	2	2	0	4	5			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr5:137501597T>C	ENST00000254900.5	-	11	1569	c.1198A>G	c.(1198-1200)Atg>Gtg	p.M400V	BRD8_ENST00000455658.2_Missense_Mutation_p.M359V|BRD8_ENST00000411594.2_Missense_Mutation_p.M403V|BRD8_ENST00000230901.5_Missense_Mutation_p.M473V|BRD8_ENST00000402931.1_Missense_Mutation_p.M400V	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	400					cell surface receptor linked signaling pathway|histone H2A acetylation|histone H4 acetylation|regulation of growth|regulation of transcription from RNA polymerase II promoter	mitochondrion|NuA4 histone acetyltransferase complex	sequence-specific DNA binding transcription factor activity|thyroid hormone receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCAATATCCATCTTCTCAGCC	0.458													C	137501597	T	C	137501597	3	2	485	1	0	0	0	0	1	0	0	0	1515	1435	50	3	2641	3	BRD8	5	137501597	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		137501597	43413663	12	45014											
CD109	135228	broad.mit.edu	37	chr6	74491008	74491008	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggactctgggtattgacagaTgcaaacctcacgaaggatta	13	9	11	8	1	2	2	1	1	1	1	2	5	2	4	1	3	2	2	1	3	4	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:74491008T>C	ENST00000437994.2	+	17	2360	c.1929T>C	c.(1927-1929)gaT>gaC	p.D643D	CD109_ENST00000422508.2_Silent_p.D566D|CD109_ENST00000287097.5_Silent_p.D643D	NM_001159587.1|NM_133493.3	NP_001153059.1|NP_598000.2	Q6YHK3	CD109_HUMAN	CD109 molecule	643	Bait region (approximate) (By similarity).					anchored to membrane|extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TATTGACAGATGCAAACCTCA	0.323													C	74491008	T	C	74491008	2	2	485	1	0	0	0	0	0	0	0	1	2993	1461	51	3		3	CD109	6	74491008	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08		74491008	96624059	13	45015											
MDN1	23195	broad.mit.edu	37	chr6	90397120	90397120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcaaatcaagatgtttcCgcaaagacaaagctcgactt	15	10	7	9	2	2	3	2	1	0	2	4	4	3	3	1	0	1	3	1	0	4	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:90397120C>T	ENST00000369393.3	-	68	11508	c.11393G>A	c.(11392-11394)cGg>cAg	p.R3798Q	MDN1_ENST00000428876.1_Missense_Mutation_p.R3798Q			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3798					protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		AAGATGTTTCCGCAAAGACAA	0.403													T	90397120	C	T	90397120	3	4	485	1	0	0	0	0	1	0	0	0	9490	652	23	1	5537	1	MDN1	6	90397120	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	15906112	90397120	80717947	14	45016											
HIVEP2	3097	broad.mit.edu	37	chr6	143095693	143095693	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagaaccaaacagttgTgctgatgctgtgtttccgat	9	13	9	10	1	0	2	0	1	0	1	2	3	2	2	3	0	4	4	3	0	2	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:143095693T>C	ENST00000367603.2	-	5	925	c.183A>G	c.(181-183)gcA>gcG	p.A61A	HIVEP2_ENST00000367604.1_Silent_p.A61A|HIVEP2_ENST00000012134.2_Silent_p.A61A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	61					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		CAAACAGTTGTGCTGATGCTG	0.498													C	143095693	T	C	143095693	2	2	485	1	0	0	0	0	0	0	0	1	7242	1683	59	3		3	HIVEP2	6	143095693	Silent	SNP	T	TCGA-FG-8182-01A-11D-2253-08	52698573	143095693	28019374	15	45017											
UNC93A	54346	broad.mit.edu	37	chr6	167728856	167728856	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgtatgggcttgtggagtgCgtggagtccaagaacccgat	8	9	16	8	3	0	1	0	0	0	1	1	4	1	3	2	3	2	2	2	3	3	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr6:167728856C>T	ENST00000230256.3	+	8	1465	c.1290C>T	c.(1288-1290)tgC>tgT	p.C430C	UNC93A_ENST00000366829.2_Silent_p.C388C	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	430						integral to membrane|plasma membrane				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		TTGTGGAGTGCGTGGAGTCCA	0.542													T	167728856	C	T	167728856	2	4	485	1	0	0	0	0	0	0	0	1	17098	776	27	1		1	UNC93A	6	167728856	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	24633163	167728856	3386211	16	45018											
FBXL18	80028	broad.mit.edu	37	chr7	5540405	5540405	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgggctcgttgcggggcaTggcggaggagaagttggacc	6	6	21	8	4	0	1	0	0	0	1	1	4	0	3	1	8	1	4	1	8	1	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:5540405T>C	ENST00000382368.3	-	3	1618	c.1495A>G	c.(1495-1497)Atg>Gtg	p.M499V	FBXL18_ENST00000453700.3_Missense_Mutation_p.M499V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	499									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		TTGCGGGGCATGGCGGAGGAG	0.672													C	5540405	T	C	5540405	3	2	485	1	0	0	0	0	1	0	0	0	5763	1464	51	3	673	3	FBXL18	7	5540405	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08		5540405	153598258	17	45019											
TRPV6	55503	broad.mit.edu	37	chr7	142575445	142575445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcaaagaccagctccGgggcagcctccatcagcacc	9	5	11	16	1	2	1	2	0	0	1	4	1	4	1	5	3	3	4	5	3	1	0			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr7:142575445G>A	ENST00000359396.3	-	3	553	c.308C>T	c.(307-309)cCg>cTg	p.P103L	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	103	Interaction with calmodulin (By similarity).				regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GACCAGCTCCGGGGCAGCCTC	0.577													A	142575445	G	A	142575445	3	1	485	1	0	0	0	0	1	0	0	0	16701	1116	39	1	1921	1	TRPV6	7	142575445	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08	137035040	142575445	16563218	18	45020											
CNTLN	54875	broad.mit.edu	37	chr9	17236520	17236520	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgacctgctaaatgacctGgagaaattgaggaagcagga	15	7	12	7	0	0	4	0	3	0	1	0	7	0	6	2	3	2	2	2	3	4	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:17236520G>A	ENST00000380647.3	+	5	867	c.783G>A	c.(781-783)ctG>ctA	p.L261L	CNTLN_ENST00000425824.1_Silent_p.L261L|CNTLN_ENST00000380641.4_Silent_p.L261L|CNTLN_ENST00000262360.5_Silent_p.L261L			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	261						centriole|membrane	two-component sensor activity			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		TAAATGACCTGGAGAAATTGA	0.368													A	17236520	G	A	17236520	2	1	485	1	0	0	0	0	0	0	0	1	3670	1335	47	2		2	CNTLN	9	17236520	Silent	SNP	G	TCGA-FG-8182-01A-11D-2253-08		17236520	123976911	19	45021											
TLR4	7099	broad.mit.edu	37	chr9	120475609	120475609	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattttgggacaaccagcctAaagtatttagatctgagctt	12	13	9	7	0	1	2	0	1	1	1	1	4	1	3	2	1	3	2	2	1	5	7			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr9:120475609A>G	ENST00000355622.6	+	3	1304	c.1203A>G	c.(1201-1203)ctA>ctG	p.L401L	TLR4_ENST00000472304.1_3'UTR|TLR4_ENST00000394487.4_Silent_p.L361L	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	401					activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CAACCAGCCTAAAGTATTTAG	0.388													G	120475609	A	G	120475609	2	3	485	1	0	0	0	0	0	0	0	1	16053	349	13	3		3	TLR4	9	120475609	Silent	SNP	A	TCGA-FG-8182-01A-11D-2253-08	103239089	120475609	20737822	20	45022											
PPRC1	23082	broad.mit.edu	37	chr10	103906760	103906760	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaacctgtcttgtccttGggcccagctgcccctccgcc	5	10	8	18	1	2	0	1	0	1	0	4	0	4	0	7	1	3	1	7	1	1	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr10:103906760G>C	ENST00000278070.2	+	9	4050	c.4011G>C	c.(4009-4011)ttG>ttC	p.L1337F	PPRC1_ENST00000489648.1_Intron|PPRC1_ENST00000370012.1_Missense_Mutation_p.L304F|PPRC1_ENST00000413464.2_Intron	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	1337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCTTGTCCTTGGGCCCAGCTG	0.607													C	103906760	G	C	103906760	3	2	485	1	0	0	0	0	1	0	0	0	12492	1339	47	4	4045	4	PPRC1	10	103906760	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08		103906760	31627987	21	45023											
FERMT3	83706	broad.mit.edu	37	chr11	63988497	63988497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcccgcagctcaccccaCggatcctggaagcccaccag	8	5	10	18	2	1	0	1	0	0	0	3	2	3	2	6	3	2	2	6	3	1	0			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:63988497C>T	ENST00000279227.5	+	13	1662	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W	FERMT3_ENST00000345728.5_Missense_Mutation_p.R519W	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	523	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GCTCACCCCACGGATCCTGGA	0.652													T	63988497	C	T	63988497	3	4	485	1	0	0	0	0	1	0	0	0	5868	527	19	1	1613	1	FERMT3	11	63988497	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		63988497	71018019	22	45024											
EXPH5	23086	broad.mit.edu	37	chr11	108381318	108381318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctcagggaacagtgggttgCactccactgtgccaagagat	10	8	13	10	0	1	1	1	0	0	1	2	3	2	2	2	2	3	3	2	2	2	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr11:108381318C>T	ENST00000265843.4	-	6	5026	c.4916G>A	c.(4915-4917)tGc>tAc	p.C1639Y	EXPH5_ENST00000428840.1_Missense_Mutation_p.C1563Y|EXPH5_ENST00000443411.1_Missense_Mutation_p.C1451Y|EXPH5_ENST00000525344.1_Missense_Mutation_p.C1632Y	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1639					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CAGTGGGTTGCACTCCACTGT	0.483													T	108381318	C	T	108381318	3	4	485	1	0	0	0	0	1	0	0	0	5364	710	25	2	1057	2	EXPH5	11	108381318	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	44392821	108381318	26625198	23	45025											
LRIG3	121227	broad.mit.edu	37	chr12	59276787	59276787	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccattttagctggcaatcGcacaaaaggcttgatgtatt	12	12	9	8	1	0	1	0	1	0	0	1	1	0	1	1	2	2	5	1	2	5	5			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:59276787G>A	ENST00000320743.3	-	12	1630	c.1344C>T	c.(1342-1344)tgC>tgT	p.C448C	LRIG3_ENST00000379141.4_Silent_p.C388C	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	448	LRRCT.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			GCTGGCAATCGCACAAAAGGC	0.403			T	ROS1	NSCLC								A	59276787	G	A	59276787	2	1	485	1	0	0	0	0	0	0	0	1	9016	1079	38	1		1	LRIG3	12	59276787	Silent	SNP	G	TCGA-FG-8182-01A-11D-2253-08		59276787	74575108	24	45026											
CUX2	23316	broad.mit.edu	37	chr12	111758235	111758237	+	In_Frame_Del	DEL	TCC	TCC	-																															cctccgtgtcgccctcgctgTcctcctcctcctcctctggc																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr12:111758235_111758237delTCC	ENST00000261726.6	+	17	2576_2578	c.2422_2424delTCC	c.(2422-2424)tccdel	p.S813del		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	813	Poly-Ser.					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						GCCCTCGCTGTCCTCCTCCTCCT	0.749													-	111758237	TCC	-	111758235	7	5	485	1	0	1	0	1	0	0	0	0	4098	1667	58	0	2488	0	CUX2	12	111758235	In_Frame_Del	DEL	TCC	TCGA-FG-8182-01A-11D-2253-08	52481448	111758235	22093660	25	45027											
FLRT2	23768	broad.mit.edu	37	chr14	86089274	86089274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcaggagcgcatagtcagCggtgagaagcaacacctgag	12	6	14	9	2	2	2	2	2	0	1	2	4	2	3	1	2	4	3	1	2	3	2	rs146568257	byFrequency	TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr14:86089274C>T	ENST00000330753.4	+	2	2183	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	FLRT2_ENST00000554746.1_Silent_p.S472S	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	472	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCATAGTCAGCGGTGAGAAGC	0.517													T	86089274	C	T	86089274	2	4	485	1	0	0	0	0	0	0	0	1	5988	767	27	1		1	FLRT2	14	86089274	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08		86089274	21260266	26	45028											
TCF12	6938	broad.mit.edu	37	chr15	57565437	57565438	+	Frame_Shift_Ins	INS	-	-	TTGAC																															caagccgtggcagtcatcctINStagtctagaacagcaagtca																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr15:57565437_57565438insTTGAC	ENST00000267811.5	+	18	2187_2188	c.1883_1884insTTGAC	c.(1882-1887)cttagtfs	p.S629fs	TCF12_ENST00000438423.2_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.S459fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.S483fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.S286fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.S263fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.S393fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.S649fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.S653fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.S629fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	629	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCAGTCATCCTTAGTCTAGAAC	0.441			T	TEC	extraskeletal myxoid chondrosarcoma								TTGAC	57565438	-	TTGAC	57565437	7	5	485	1	0	1	1	0	0	0	0	0	15787	1609	56	0	2098	0	TCF12	15	57565437	Frame_Shift_Ins	INS	-	TCGA-FG-8182-01A-11D-2253-08		57565437	44965955	27	45029											
TP53	7157	broad.mit.edu	37	chr17	7574012	7574012	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcagctctcggaacatctCgaagcgctcacgcccacgga	10	7	9	15	5	4	0	2	0	2	0	6	3	4	2	1	2	3	2	1	2	2	1	rs17882252		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7574012C>A	ENST00000269305.4	-	10	1204	c.1015G>T	c.(1015-1017)Gag>Tag	p.E339*	TP53_ENST00000445888.2_Nonsense_Mutation_p.E339*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000359597.4_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	339	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> K (in a sporadic cancer; somatic mutation; dbSNP:rs17882252).|E -> Q (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.E339*(14)|p.0?(8)|p.E339fs*8(2)|p.E339Q(1)|p.?(1)|p.F338fs*6(1)|p.F338_E339>L(1)|p.E339fs*13(1)|p.I332fs*5(1)|p.E339K(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)		CGGAACATCTCGAAGCGCTCA	0.537		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)			A	7574012	C	A	7574012	4	1	485	1	0	0	0	0	0	1	0	0	16482	893	31	4	174	4	TP53	17	7574012	Nonsense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		7574012	73621198	28	45030											
TP53	7157	broad.mit.edu	37	chr17	7579311	7579311	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccctcagggcaactgaCcgtgcaagtcacagacttgg	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs68140816		TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:7579311C>T	ENST00000420246.2	-	4	508		c.e4+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(26)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGGCAACTGACCGTGCAAGTC	0.532		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)			T	7579311	C	T	7579311	5	4	485	1	0	0	0	0	0	0	1	0	16482	521	18	2	926	2	TP53	17	7579311	Splice_Site	SNP	C	TCGA-FG-8182-01A-11D-2253-08	5299	7579311	73615899	29	45031											
CWC25	54883	broad.mit.edu	37	chr17	36958970	36958970	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactggatgaacttcccatcCcgggagtccagcttctctag	8	10	9	14	1	1	1	0	1	1	0	5	3	4	3	3	2	2	1	3	2	2	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr17:36958970C>T	ENST00000225428.5	-	9	1443	c.1146G>A	c.(1144-1146)cgG>cgA	p.R382R	CWC25_ENST00000536127.1_Silent_p.R319R	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)											central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						ACTTCCCATCCCGGGAGTCCA	0.547													T	36958970	C	T	36958970	2	4	485	1	0	0	0	0	0	0	0	1	4102	610	22	2		2	CWC25	17	36958970	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	29379659	36958970	44236240	30	45032											
MUC16	94025	broad.mit.edu	37	chr19	8987333	8987333	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcctcgctgaccaccccGgctagggcagggggaagaga	8	4	16	13	2	0	2	0	1	0	1	2	4	1	3	4	5	0	4	4	5	2	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:8987333G>A	ENST00000397910.4	-	68	41957	c.41754C>T	c.(41752-41754)acC>acT	p.T13918T	MUC16_ENST00000380951.5_Splice_Site_p.T559T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13921				Missing (in Ref. 3; AAK74120).	cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T13918T(1)		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						TGACCACCCCGGCTAGGGCAG	0.597													A	8987333	G	A	8987333	5	1	485	1	0	0	0	0	0	0	1	0	10049	1130	39	1	1837	1	MUC16	19	8987333	Splice_Site	SNP	G	TCGA-FG-8182-01A-11D-2253-08		8987333	50141650	31	45033											
SERTAD1	29950	broad.mit.edu	37	chr19	40929409	40929411	+	In_Frame_Del	DEL	CTC	CTC	-																															tcgactgccagaggttccttCtcctcctcctcctcccgttt																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:40929409_40929411delCTC	ENST00000357949.4	-	2	201_203	c.43_45delGAG	c.(43-45)gagdel	p.E15del		NM_013376.3	NP_037508.2	Q9UHV2	SRTD1_HUMAN	SERTA domain containing 1	15					positive regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent					endometrium(2)|lung(1)|prostate(1)|skin(1)	5			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			GAGGTTCCTTCTCCTCCTCCTCC	0.557													-	40929411	CTC	-	40929409	7	5	485	1	0	1	0	1	0	0	0	0	14213	912	32	0	669	0	SERTAD1	19	40929409	In_Frame_Del	DEL	CTC	TCGA-FG-8182-01A-11D-2253-08	31942076	40929409	18199574	32	45034											
PSG8	440533	broad.mit.edu	37	chr19	43262370	43262370	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatcacaggttaagctcaCagcctccatggcctccctgg	9	8	10	14	0	2	0	2	0	0	0	4	1	4	1	4	4	2	2	4	4	1	1			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:43262370C>A	ENST00000404209.4	-	3	589	c.493G>T	c.(493-495)Gtg>Ttg	p.V165L	PSG8_ENST00000401467.2_Intron|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.V43L|PSG8_ENST00000306511.4_Missense_Mutation_p.V165L	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	165	Ig-like C2-type 1.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTAAGCTCACAGCCTCCATG	0.537													A	43262370	C	A	43262370	3	1	485	1	0	0	0	0	1	0	0	0	12746	478	17	4	820	4	PSG8	19	43262370	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08	2332961	43262370	15866613	33	45035											
ERCC1	2067	broad.mit.edu	37	chr19	45916941	45916941	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagagctcttactttctgAgggcccaggcctgggcataa	8	9	11	13	0	2	2	0	1	2	1	2	2	2	2	3	3	2	2	3	3	2	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:45916941A>T	ENST00000300853.3	-	9	1428	c.837T>A	c.(835-837)ccT>ccA	p.P279P	ERCC1_ENST00000589165.1_Silent_p.P279P|ERCC1_ENST00000013807.5_Silent_p.P279P|ERCC1_ENST00000588738.1_5'UTR|ERCC1_ENST00000591636.1_Intron|ERCC1_ENST00000423698.2_Silent_p.P207P|ERCC1_ENST00000340192.7_Silent_p.P255P	NM_001983.3	NP_001974.1	P07992	ERCC1_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 1 (includes overlapping antisense sequence)	279					mitotic recombination|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|response to oxidative stress|transcription-coupled nucleotide-excision repair	cytoplasm|nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair complex	damaged DNA binding|endonuclease activity|protein C-terminus binding|protein domain specific binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(2)|ovary(2)|skin(1)	15		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0247)		TTACTTTCTGAGGGCCCAGGC	0.522								Nucleotide excision repair (NER)					T	45916941	A	T	45916941	2	4	485	1	0	0	0	0	0	0	0	1	5253	291	11	5		5	ERCC1	19	45916941	Silent	SNP	A	TCGA-FG-8182-01A-11D-2253-08	2654571	45916941	13212042	34	45036											
LILRA1	11024	broad.mit.edu	37	chr19	55112237	55112237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttggtcctggtggtcctCgggattctgctatttgaggc	3	14	15	9	1	1	1	0	1	1	0	4	2	3	2	2	6	1	2	2	6	1	4			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr19:55112237C>T	ENST00000453777.1	+	8	995	c.825C>T	c.(823-825)ctC>ctT	p.L275L	LILRA1_ENST00000473156.1_3'UTR|LILRB1_ENST00000418536.2_Intron|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000396321.2_Intron|LILRA1_ENST00000251372.3_Silent_p.L475L	NM_001278318.1	NP_001265247.1	O75019	LIRA1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 1	475	Ig-like C2-type 3.				cell surface receptor linked signaling pathway|defense response|regulation of immune response	integral to membrane|plasma membrane	antigen binding|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	47				GBM - Glioblastoma multiforme(193;0.0348)		TGGTGGTCCTCGGGATTCTGC	0.562													T	55112237	C	T	55112237	2	4	485	1	0	0	0	0	0	0	0	1	8844	871	31	1		1	LILRA1	19	55112237	Silent	SNP	C	TCGA-FG-8182-01A-11D-2253-08	9195296	55112237	4016746	35	45037											
C20orf26	26074	broad.mit.edu	37	chr20	20123549	20123549	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaaaaaatagtcgaggAgttgcaggaacctgtctctc	12	10	9	10	1	1	0	0	0	1	0	5	3	2	2	2	2	2	2	2	2	5	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:20123549A>T	ENST00000245957.5	+	9	984	c.908A>T	c.(907-909)gAg>gTg	p.E303V	C20orf26_ENST00000377306.1_Missense_Mutation_p.E303V|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.E303V	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	303										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		ATAGTCGAGGAGTTGCAGGAA	0.488													T	20123549	A	T	20123549	3	4	485	1	0	0	0	0	1	0	0	0	2127	304	11	5	938	5	C20orf26	20	20123549	Missense_Mutation	SNP	A	TCGA-FG-8182-01A-11D-2253-08		20123549	42901971	36	45038											
ZNF217	7764	broad.mit.edu	37	chr20	52192452	52192452	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcggtaacagtgatgtgaTgcctctgaccatatggtact	9	12	11	9	1	1	3	0	3	1	0	1	3	1	3	2	2	4	2	2	2	3	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr20:52192452T>C	ENST00000371471.2	-	4	3276	c.2851A>G	c.(2851-2853)Atc>Gtc	p.I951V	ZNF217_ENST00000302342.3_Missense_Mutation_p.I951V			O75362	ZN217_HUMAN	zinc finger protein 217	951					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AGTGATGTGATGCCTCTGACC	0.542													C	52192452	T	C	52192452	3	2	485	1	0	0	0	0	1	0	0	0	17873	1464	51	3	303	3	ZNF217	20	52192452	Missense_Mutation	SNP	T	TCGA-FG-8182-01A-11D-2253-08	32068903	52192452	10833068	37	45039											
ADSL	158	broad.mit.edu	37	chr22	40762494	40762494	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttaaaaccatatgaaagcGtgatgaaggtgaaagcagaa	18	8	11	4	1	0	5	0	4	0	1	0	5	0	5	1	1	3	2	1	1	7	2			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chr22:40762494G>A	ENST00000216194.7	+	13	1479	c.1423G>A	c.(1423-1425)Gtg>Atg	p.V475M	ADSL_ENST00000342312.6_Missense_Mutation_p.V416M|ADSL_ENST00000454266.2_Missense_Mutation_p.V489M	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	475					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						ATATGAAAGCGTGATGAAGGT	0.358													A	40762494	G	A	40762494	3	1	485	1	0	0	0	0	1	0	0	0	346	1145	40	1	1473	1	ADSL	22	40762494	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08		40762494	10542072	38	45040											
CCDC22	28952	broad.mit.edu	37	chrX	49105641	49105641	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgccagatcttgtctgataCgaaggagcttcagaaggaaa	13	9	11	8	1	3	3	1	1	2	2	3	6	3	5	1	2	3	1	1	2	4	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:49105641C>T	ENST00000376227.3	+	14	1723	c.1553C>T	c.(1552-1554)aCg>aTg	p.T518M		NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	518										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						TTGTCTGATACGAAGGAGCTT	0.577													T	49105641	C	T	49105641	3	4	485	1	0	0	0	0	1	0	0	0	2824	536	19	1	1607	1	CCDC22	23	49105641	Missense_Mutation	SNP	C	TCGA-FG-8182-01A-11D-2253-08		49105641	106164919	39	45041											
VSIG4	11326	broad.mit.edu	37	chrX	65253475	65253475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtggctcacatgcaggcGgccctggtactttgcctgct	4	12	12	13	1	1	0	1	0	0	0	1	0	1	0	2	4	4	4	2	4	1	3			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:65253475G>A	ENST00000455586.2	-	2	379	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C	VSIG4_ENST00000374737.4_Missense_Mutation_p.R85C|VSIG4_ENST00000412866.2_Missense_Mutation_p.R85C	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	85	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACATGCAGGCGGCCCTGGTAC	0.547													A	65253475	G	A	65253475	3	1	485	1	0	0	0	0	1	0	0	0	17327	1116	39	1	978	1	VSIG4	23	65253475	Missense_Mutation	SNP	G	TCGA-FG-8182-01A-11D-2253-08	16147834	65253475	90017085	40	45042											
ATRX	546	broad.mit.edu	37	chrX	76845302	76845302	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagaaatatttgtagctcAcctttataaataaggggttt	14	14	7	6	0	1	1	1	0	0	1	1	1	1	1	1	2	1	3	1	2	7	8			TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76845302A>G	ENST00000373344.5	-	27	6432		c.e27+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTTGTAGCTCACCTTTATAAA	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76845302	A	G	76845302	5	3	485	1	0	0	0	0	0	0	1	0	1213	173	6	3	1295	3	ATRX	23	76845302	Splice_Site	SNP	A	TCGA-FG-8182-01A-11D-2253-08	11591827	76845302	78425258	41	45043											
ATRX	546	broad.mit.edu	37	chrX	76890105	76890106	+	Translation_Start_Site	INS	-	-	CATA																															tgtaaagtcttaccaaggccINScatacagtgggcaagaatgc																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76890105_76890106insCATA	ENST00000480283.1	-	0	5125_5126				ATRX_ENST00000395603.3_Frame_Shift_Ins_p.MG1558fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.MG1596fs			P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTACCAAGGCCCATACAGTGGG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						CATA	76890106	-	CATA	76890105	6	5	485	1	0	1	1	0	0	0	0	0	1213	623	22	0		0	ATRX	23	76890105	Translation_Start_Site	INS	-	TCGA-FG-8182-01A-11D-2253-08	44803	76890105	78380455	42	45044											
ATRX	546	broad.mit.edu	37	chrX	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T																															cagaagaattacgcttatccINSttttttctcactggaactga																										TCGA-FG-8182-01A-11D-2253-08	TCGA-FG-8182-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aeaab9f-4459-4be8-91e7-e0746cbd671c	705290ff-c3b5-4e53-956d-05fc3825ccb7	g.chrX:76938654_76938655insT	ENST00000373344.5	-	9	2307_2308	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K660fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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)	TACGCTTATCCTTTTTTCTCAC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76938655	-	T	76938654	7	5	485	1	0	1	1	0	0	0	0	0	1213	680	24	0	5492	0	ATRX	23	76938654	Frame_Shift_Ins	INS	-	TCGA-FG-8182-01A-11D-2253-08	48549	76938654	78331906	43	45045											
SRRM1	10250	broad.mit.edu	37	chr1	24995840	24995840	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaagagacgttcaccttcaTtatcatccaagcataggaaa	15	9	6	11	1	3	1	3	0	0	1	4	3	4	2	3	1	1	2	3	1	5	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:24995840T>C	ENST00000323848.9	+	14	2281	c.1966T>C	c.(1966-1968)Tta>Cta	p.L656L	SRRM1_ENST00000479034.1_3'UTR|SRRM1_ENST00000374389.4_Silent_p.L665L|SRRM1_ENST00000447431.2_Silent_p.L668L	NM_005839.3	NP_005830.2	Q8IYB3	SRRM1_HUMAN	serine/arginine repetitive matrix 1	656	Arg-rich.|Necessary for speckles and matrix localization.|Pro-rich.|Ser-rich.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nuclear matrix|nuclear speck	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	36		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00125)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0422)|OV - Ovarian serous cystadenocarcinoma(117;1.01e-24)|Colorectal(126;5.95e-08)|COAD - Colon adenocarcinoma(152;3.24e-06)|GBM - Glioblastoma multiforme(114;0.000148)|BRCA - Breast invasive adenocarcinoma(304;0.00177)|KIRC - Kidney renal clear cell carcinoma(1967;0.00348)|STAD - Stomach adenocarcinoma(196;0.00483)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.138)		TTCACCTTCATTATCATCCAA	0.567													C	24995840	T	C	24995840	2	2	486	1	0	0	0	0	0	0	0	1	15264	1490	52	3		3	SRRM1	1	24995840	Silent	SNP	T	TCGA-FG-8185-01A-11D-2253-08		24995840	224254781	1	45046											
AMIGO1	57463	broad.mit.edu	37	chr1	110050585	110050585	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catccttagacacactcactGtgccattggtcacctcatct	9	12	5	15	0	4	1	3	0	1	1	5	1	5	1	3	1	1	0	3	1	1	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:110050585G>C	ENST00000369864.4	-	2	1299	c.950C>G	c.(949-951)aCa>aGa	p.T317R	AMIGO1_ENST00000369862.1_Missense_Mutation_p.T317R			Q86WK6	AMGO1_HUMAN	adhesion molecule with Ig-like domain 1	317	Ig-like C2-type.				axonal fasciculation|heterophilic cell-cell adhesion|homophilic cell adhesion|myelination|positive regulation of axonogenesis	axon|integral to membrane				autonomic_ganglia(1)|breast(2)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Colorectal(144;0.0129)|Lung(183;0.0182)|Epithelial(280;0.046)|all cancers(265;0.0492)|READ - Rectum adenocarcinoma(129;0.0689)|LUSC - Lung squamous cell carcinoma(189;0.227)		CACACTCACTGTGCCATTGGT	0.512													C	110050585	G	C	110050585	3	2	486	1	0	0	0	0	1	0	0	0	575	1377	48	4	535	4	AMIGO1	1	110050585	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	85054745	110050585	139200036	2	45047											
AMPD1	270	broad.mit.edu	37	chr1	115216305	115216305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactgttccttgccacttcGcacatatcacaggtgctcag	9	11	7	14	1	2	0	2	0	0	0	4	0	3	0	2	1	2	3	2	1	1	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:115216305G>A	ENST00000369538.3	-	14	2174	c.2127C>T	c.(2125-2127)tgC>tgT	p.C709C	AMPD1_ENST00000520113.2_Silent_p.C713C|AMPD1_ENST00000353928.6_Silent_p.C680C	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	680					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TTGCCACTTCGCACATATCAC	0.438													A	115216305	G	A	115216305	2	1	486	1	0	0	0	0	0	0	0	1	585	1079	38	1		1	AMPD1	1	115216305	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	5165720	115216305	134034316	3	45048											
BCL9	607	broad.mit.edu	37	chr1	147090673	147090673	+	Frame_Shift_Del	DEL	C	C	-																															cgaaacctctcccacaacagCccccagctccggccaaccag																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:147090673delC	ENST00000234739.3	+	8	1452	c.712delC	c.(712-714)cccfs	p.P239fs		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	239	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					CCCACAACAGCCCCCAGCTCC	0.517			T	"IGH@, IGL@"	B-ALL								-	147090673	C	-	147090673	7	5	486	1	0	1	0	1	0	0	0	0	1386	739	26	0	730	0	BCL9	1	147090673	Frame_Shift_Del	DEL	C	TCGA-FG-8185-01A-11D-2253-08	31874368	147090673	102159948	4	45049											
TCHH	7062	broad.mit.edu	37	chr1	152084077	152084077	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctctcctcctgctcgcgtCttagttgttgctcgctcctc	1	15	8	17	3	2	0	0	0	2	0	8	0	4	0	4	0	2	5	4	0	1	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:152084077C>G	ENST00000368804.1	-	2	1615	c.1616G>C	c.(1615-1617)aGa>aCa	p.R539T		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	539	9 X 28 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGCTCGCGTCTTAGTTGTTG	0.652													G	152084077	C	G	152084077	3	3	486	1	0	0	0	0	1	0	0	0	15800	913	32	4	4219	4	TCHH	1	152084077	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	4993404	152084077	97166544	5	45050											
LAMC1	3915	broad.mit.edu	37	chr1	183086809	183086809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtatctgtacccttgatcGctcagggcaattcctatcca	9	12	8	12	1	2	1	1	1	1	0	5	2	4	1	3	1	1	4	3	1	4	5			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:183086809G>A	ENST00000258341.4	+	10	2085	c.1828G>A	c.(1828-1830)Gct>Act	p.A610T		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	610	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent			NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACCCTTGATCGCTCAGGGCAA	0.483													A	183086809	G	A	183086809	3	1	486	1	0	0	0	0	1	0	0	0	8673	1087	38	1	1866	1	LAMC1	1	183086809	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	31002732	183086809	66163812	6	45051											
MIA3	375056	broad.mit.edu	37	chr1	222803484	222803484	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccctataatatggaaaaagtCctagataaggtcttccgtgc	13	11	8	9	1	1	1	0	0	1	1	3	2	3	2	3	2	1	0	3	2	7	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr1:222803484C>G	ENST00000344922.5	+	4	2947	c.2922C>G	c.(2920-2922)gtC>gtG	p.V974V	MIA3_ENST00000344441.6_Silent_p.V974V|MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	974					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		TGGAAAAAGTCCTAGATAAGG	0.428													G	222803484	C	G	222803484	2	3	486	1	0	0	0	0	0	0	0	1	9640	842	30	4		4	MIA3	1	222803484	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	39716675	222803484	26447137	7	45052											
APOB	338	broad.mit.edu	37	chr2	21228306	21228306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattcaggcacggttatctCaaaaaagggaatcaaggagt	16	8	11	6	1	3	1	3	0	1	1	4	3	3	3	0	4	0	2	0	4	6	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:21228306C>G	ENST00000233242.1	-	26	11561	c.11434G>C	c.(11434-11436)Gag>Cag	p.E3812Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3812					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ACGGTTATCTCAAAAAAGGGA	0.423													G	21228306	C	G	21228306	3	3	486	1	0	0	0	0	1	0	0	0	788	835	29	4	2273	4	APOB	2	21228306	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		21228306	221971067	8	45053											
VAX2	25806	broad.mit.edu	37	chr2	71148309	71148309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggacacgtacatccttcaCtgccgagcagctgtaccgcc	8	7	10	16	4	1	0	1	0	0	0	2	2	2	1	4	1	5	4	4	1	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:71148309C>T	ENST00000234392.2	+	2	361	c.329C>T	c.(328-330)aCt>aTt	p.T110I		NM_012476.2	NP_036608.1	Q9UIW0	VAX2_HUMAN	ventral anterior homeobox 2	110					ectoderm development|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	7						ACATCCTTCACTGCCGAGCAG	0.622													T	71148309	C	T	71148309	3	4	486	1	0	0	0	0	1	0	0	0	17237	565	20	2	335	2	VAX2	2	71148309	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	49920003	71148309	172051064	9	45054											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	486	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	137964804	209113113	34086260	10	45055											
VHL	7428	broad.mit.edu	37	chr3	10191622	10191622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcggctgacacaggagcgCattgcacatcaacggatggg	11	5	15	10	3	1	1	1	1	0	0	1	4	1	3	0	4	4	3	0	4	1	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:10191622C>T	ENST00000256474.2	+	3	1455	c.615C>T	c.(613-615)cgC>cgT	p.R205R	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Silent_p.R164R	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	205					anti-apoptosis|cell morphogenesis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cell differentiation|positive regulation of transcription, DNA-dependent|protein stabilization|protein ubiquitination|proteolysis	cytosol|endoplasmic reticulum|membrane|mitochondrion|nucleus	protein binding|transcription factor binding	p.I206fs*10(2)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CACAGGAGCGCATTGCACATC	0.468		1	"D, Mis, N, F, S"		"renal, hemangioma, pheochromocytoma"	"renal, hemangioma, pheochromocytoma"			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia				T	10191622	C	T	10191622	2	4	486	1	0	0	0	0	0	0	0	1	17264	697	25	2		2	VHL	3	10191622	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08		10191622	187830808	11	45056											
ZIC4	84107	broad.mit.edu	37	chr3	147108852	147108852	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagctgggcggcggcgaGcgcccgtgcaccttcatgtg	5	6	16	14	5	1	1	1	0	0	1	1	2	1	1	3	3	3	2	3	3	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:147108852G>C	ENST00000383075.3	-	4	1382	c.870C>G	c.(868-870)cgC>cgG	p.R290R	ZIC4_ENST00000472749.2_5'UTR|ZIC4_ENST00000484399.1_Silent_p.R290R|ZIC4_ENST00000473123.1_Silent_p.R290R|ZIC4_ENST00000525172.2_Silent_p.R340R|ZIC4_ENST00000425731.3_Silent_p.R328R|ZIC4_ENST00000491672.1_Silent_p.R84R	NM_032153.5	NP_115529.2	Q8N9L1	ZIC4_HUMAN	Zic family member 4	290						nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(34)|upper_aerodigestive_tract(4)	57						GCGGCGGCGAGCGCCCGTGCA	0.667													C	147108852	G	C	147108852	2	2	486	1	0	0	0	0	0	0	0	1	17782	958	34	4		4	ZIC4	3	147108852	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	136917230	147108852	50913578	12	45057											
YEATS2	55689	broad.mit.edu	37	chr3	183493803	183493805	+	In_Frame_Del	DEL	AGG	AGG	-																															agcggtggaggcggcagcacAggaggaggaggaggaacagc																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr3:183493803_183493805delAGG	ENST00000305135.5	+	18	2664_2666	c.2469_2471delAGG	c.(2467-2472)acagga>aca	p.G828del		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	828	Gly-rich.				histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			gcggcagcacaggaggaggagga	0.601													-	183493805	AGG	-	183493803	7	5	486	1	0	1	0	1	0	0	0	0	17574	175	7	0	2535	0	YEATS2	3	183493803	In_Frame_Del	DEL	AGG	TCGA-FG-8185-01A-11D-2253-08	36384951	183493803	14528627	13	45058											
UGT2B10	7365	broad.mit.edu	37	chr4	69696406	69696406	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcttctggattgaatttGtcatgcgccacaaaggagcc	10	11	10	10	1	3	1	1	1	2	0	3	3	3	3	2	2	2	0	2	2	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr4:69696406G>C	ENST00000265403.7	+	6	1423	c.1396G>C	c.(1396-1398)Gtc>Ctc	p.V466L	UGT2B10_ENST00000458688.2_Missense_Mutation_p.V382L	NM_001075.4	NP_001066.1	P36537	UDB10_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B10	466					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(3)|kidney(4)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	29						GATTGAATTTGTCATGCGCCA	0.438													C	69696406	G	C	69696406	3	2	486	1	0	0	0	0	1	0	0	0	17058	1377	48	4	1418	4	UGT2B10	4	69696406	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08		69696406	121457870	14	45059											
DIAPH1	1729	broad.mit.edu	37	chr5	140958726	140958726	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgttccacttcatccatctCagctctttctgtcattgcct	6	16	4	15	1	5	0	3	0	3	0	8	0	7	0	3	0	2	2	3	0	0	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:140958726C>G	ENST00000253811.6	-	9	1002	c.862G>C	c.(862-864)Gag>Cag	p.E288Q	DIAPH1_ENST00000520569.1_Missense_Mutation_p.E234Q|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E279Q|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E288Q|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E279Q|DIAPH1_ENST00000398557.4_Missense_Mutation_p.E288Q|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E279Q|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E279Q			O60610	DIAP1_HUMAN	diaphanous-related formin 1	288	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCATCCATCTCAGCTCTTTCT	0.473													G	140958726	C	G	140958726	3	3	486	1	0	0	0	0	1	0	0	0	4557	835	29	4	3036	4	DIAPH1	5	140958726	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		140958726	39956534	15	45060											
GABRG2	2566	broad.mit.edu	37	chr5	161569181	161569181	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgttccaggagattatgtgGtcatgtctgtctactttgat	7	17	10	7	0	3	2	1	1	2	1	4	3	4	2	1	2	1	1	1	2	2	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr5:161569181G>T	ENST00000356592.3	+	7	1241	c.781G>T	c.(781-783)Gtc>Ttc	p.V261F	GABRG2_ENST00000414552.2_Missense_Mutation_p.V301F|GABRG2_ENST00000361925.4_Missense_Mutation_p.V261F|GABRG2_ENST00000393933.4_Missense_Mutation_p.V166F	NM_000816.3|NM_198904.2	NP_000807.2|NP_944494.1	P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	261					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.V261F(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)		AGATTATGTGGTCATGTCTGT	0.403													T	161569181	G	T	161569181	3	4	486	1	0	0	0	0	1	0	0	0	6224	1261	44	4	931	4	GABRG2	5	161569181	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	20610455	161569181	19346079	16	45061											
MED23	9439	broad.mit.edu	37	chr6	131929091	131929091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttttctgggtatagcaagtCgaagagcttcatcacaggga	11	12	11	7	1	3	1	2	0	1	1	4	3	3	2	0	2	2	3	0	2	4	5			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr6:131929091C>T	ENST00000403834.3	-	12	1389	c.1216G>A	c.(1216-1218)Gac>Aac	p.D406N	MED23_ENST00000368068.3_Missense_Mutation_p.D400N|MED23_ENST00000368058.1_Missense_Mutation_p.D406N|MED23_ENST00000354577.4_Missense_Mutation_p.D406N|MED23_ENST00000545957.1_Intron|MED23_ENST00000368053.4_Missense_Mutation_p.D406N|MED23_ENST00000539158.1_Missense_Mutation_p.D400N|MED23_ENST00000368060.3_Missense_Mutation_p.D400N|MED23_ENST00000540546.1_Missense_Mutation_p.D406N			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	400					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TATAGCAAGTCGAAGAGCTTC	0.343													T	131929091	C	T	131929091	3	4	486	1	0	0	0	0	1	0	0	0	9516	884	31	1	2987	1	MED23	6	131929091	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		131929091	39185976	17	45062											
RBAK	57786	broad.mit.edu	37	chr7	5104674	5104674	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aattcagccttcgatgggcaCcagccacttccaaaagggga	12	7	10	12	1	1	0	1	0	0	0	3	2	2	1	4	3	2	1	4	3	3	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:5104674C>G	ENST00000396912.1	+	5	2106	c.1587C>G	c.(1585-1587)caC>caG	p.H529Q	RBAK_ENST00000353796.3_Missense_Mutation_p.H529Q|RBAK-RBAKDN_ENST00000407184.1_Intron|RBAK-RBAKDN_ENST00000396904.2_Intron	NM_021163.3	NP_066986.1	Q9NYW8	RBAK_HUMAN	RB-associated KRAB zinc finger	529	Interaction with AR.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(2)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)	10		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0916)|OV - Ovarian serous cystadenocarcinoma(56;2.44e-14)		TCGATGGGCACCAGCCACTTC	0.383													G	5104674	C	G	5104674	3	3	486	1	0	0	0	0	1	0	0	0	13188	506	18	4	1601	4	RBAK	7	5104674	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		5104674	154033989	18	45063											
HEPACAM2	253012	broad.mit.edu	37	chr7	92838050	92838050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atatatgtagtattgtcagtCctcctaatccaggagtaggt	11	14	9	7	0	1	0	1	0	0	0	4	1	4	1	3	2	0	3	3	2	6	7			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:92838050C>G	ENST00000394468.2	-	4	932	c.855G>C	c.(853-855)agG>agC	p.R285S	HEPACAM2_ENST00000440868.1_Missense_Mutation_p.R273S|HEPACAM2_ENST00000453812.2_Missense_Mutation_p.R308S|HEPACAM2_ENST00000341723.4_Missense_Mutation_p.R273S	NM_001039372.1	NP_001034461.1	A8MVW5	HECA2_HUMAN	HEPACAM family member 2	285	Ig-like C2-type 2.					integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(4)|skin(1)	28						TATTGTCAGTCCTCCTAATCC	0.443													G	92838050	C	G	92838050	3	3	486	1	0	0	0	0	1	0	0	0	7108	854	30	4	561	4	HEPACAM2	7	92838050	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	87733376	92838050	66300613	19	45064											
CPA2	1358	broad.mit.edu	37	chr7	129929564	129929564	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaaggcaatcatggagCatgtgcgagaccacccctat	11	8	11	11	1	1	2	1	1	0	1	1	4	1	3	3	2	2	3	3	2	3	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr7:129929564C>G	ENST00000222481.4	+	11	1292	c.1237C>G	c.(1237-1239)Cat>Gat	p.H413D		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	413					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					AATCATGGAGCATGTGCGAGA	0.512													G	129929564	C	G	129929564	3	3	486	1	0	0	0	0	1	0	0	0	3821	710	25	4	1279	4	CPA2	7	129929564	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	37091514	129929564	29209099	20	45065											
KIAA1429	25962	broad.mit.edu	37	chr8	95530133	95530133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccaaaataagtatgcatgCgtaattataagctactgact	16	11	6	8	1	0	1	0	1	0	0	0	1	0	1	1	0	4	4	1	0	8	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr8:95530133C>T	ENST00000297591.5	-	10	2626	c.2551G>A	c.(2551-2553)Gca>Aca	p.A851T	KIAA1429_ENST00000437199.1_Missense_Mutation_p.A851T|KIAA1429_ENST00000421249.2_Missense_Mutation_p.A851T	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	851					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			AGTATGCATGCGTAATTATAA	0.318													T	95530133	C	T	95530133	3	4	486	1	0	0	0	0	1	0	0	0	8289	768	27	1	3001	1	KIAA1429	8	95530133	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		95530133	50833889	21	45066											
SVEP1	79987	broad.mit.edu	37	chr9	113139603	113139603	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacaggaacaagcatttggGcgttggcagatgcccccatt	10	8	13	10	1	0	1	0	0	0	1	0	3	0	3	2	4	3	3	2	4	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:113139603G>C	ENST00000401783.2	-	45	10788	c.10452C>G	c.(10450-10452)cgC>cgG	p.R3484R	SVEP1_ENST00000374469.1_Silent_p.R3461R|SVEP1_ENST00000297826.5_Silent_p.R1410R	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3484					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						AAGCATTTGGGCGTTGGCAGA	0.502													C	113139603	G	C	113139603	2	2	486	1	0	0	0	0	0	0	0	1	15516	1190	42	4		4	SVEP1	9	113139603	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08		113139603	28073828	22	45067											
TNFSF15	9966	broad.mit.edu	37	chr9	117568099	117568099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacctggaactgcacacagGcctctccctgggcccggagc	7	7	11	16	1	1	0	0	0	1	0	2	2	1	2	4	4	4	1	4	4	2	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:117568099G>A	ENST00000374045.4	-	1	307	c.194C>T	c.(193-195)gCc>gTc	p.A65V		NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	65					activation of caspase activity|activation of NF-kappaB-inducing kinase activity|cytokine metabolic process|immune response	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						CTGCACACAGGCCTCTCCCTG	0.602													A	117568099	G	A	117568099	3	1	486	1	0	0	0	0	1	0	0	0	16408	1203	42	2	577	2	TNFSF15	9	117568099	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	4428496	117568099	23645332	23	45068											
CACNA1B	774	broad.mit.edu	37	chr9	140946550	140946550	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccttctagaggatcCaaagggaaagacatcaatac	14	9	7	11	0	3	2	1	0	2	2	5	4	4	4	2	2	1	0	2	2	5	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr9:140946550C>G	ENST00000277549.5	+	26	3874	c.1305C>G	c.(1303-1305)tcC>tcG	p.S435S	CACNA1B_ENST00000371372.1_Silent_p.S1239S|CACNA1B_ENST00000277551.2_Silent_p.S1239S|CACNA1B_ENST00000371363.1_Silent_p.S1239S|CACNA1B_ENST00000371355.4_Silent_p.S1240S|CACNA1B_ENST00000371357.1_Silent_p.S1240S			Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit	1239					membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	ATP binding|protein C-terminus binding|voltage-gated calcium channel activity			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)	CTAGAGGATCCAAAGGGAAAG	0.582													G	140946550	C	G	140946550	2	3	486	1	0	0	0	0	0	0	0	1	2565	581	21	4		4	CACNA1B	9	140946550	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	23378451	140946550	266881	24	45069											
ADARB2	105	broad.mit.edu	37	chr10	1779285	1779285	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctcctcctcttggacttGcatttgagttgactgctcag	5	15	8	13	0	2	2	1	2	1	0	5	3	5	3	3	1	2	3	3	1	0	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr10:1779285G>C	ENST00000381312.1	-	1	385	c.60C>G	c.(58-60)tgC>tgG	p.C20W		NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	20					mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		TCTTGGACTTGCATTTGAGTT	0.701													C	1779285	G	C	1779285	3	2	486	1	0	0	0	0	1	0	0	0	283	1311	46	4	2199	4	ADARB2	10	1779285	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08		1779285	133755462	25	45070											
SLC17A6	57084	broad.mit.edu	37	chr11	22360149	22360149	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattttgctggaaaatcaCtcggccagatctacaggtaa	14	10	9	8	1	2	2	1	0	1	2	3	3	2	3	1	3	2	2	1	3	5	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:22360149C>G	ENST00000263160.3	+	1	507	c.70C>G	c.(70-72)Ctc>Gtc	p.L24V		NM_020346.2	NP_065079.1	Q9P2U8	VGLU2_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 6	24					sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(3)	50						TGGAAAATCACTCGGCCAGAT	0.473													G	22360149	C	G	22360149	3	3	486	1	0	0	0	0	1	0	0	0	14515	565	20	4	72	4	SLC17A6	11	22360149	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		22360149	112646367	26	45071											
OR5D14	219436	broad.mit.edu	37	chr11	55563737	55563737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatccgttctgttagtgggCgccacaaagccttctccacc	9	10	8	14	2	2	0	0	0	2	0	4	0	3	0	5	1	1	2	5	1	3	3	rs145440752	byFrequency	TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:55563737C>T	ENST00000335605.1	+	1	706	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	236					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TGTTAGTGGGCGCCACAAAGC	0.463													T	55563737	C	T	55563737	3	4	486	1	0	0	0	0	1	0	0	0	11231	768	27	1	708	1	OR5D14	11	55563737	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	33203588	55563737	79442779	27	45072											
MMP20	9313	broad.mit.edu	37	chr11	102465488	102465488	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	acctgccgtctccagaaaatCctatgggacattccaaaaaa	15	8	6	12	1	1	1	0	0	1	1	4	2	3	2	5	1	1	0	5	1	6	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr11:102465488C>G	ENST00000260228.2	-	7	966	c.954G>C	c.(952-954)cgG>cgC	p.R318R	MMP20_ENST00000544938.1_5'UTR	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	matrix metallopeptidase 20	318	Hemopexin-like 1.				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)		TCCAGAAAATCCTATGGGACA	0.418													G	102465488	C	G	102465488	5	3	486	1	0	0	0	0	0	0	1	0	9734	869	30	4	513	4	MMP20	11	102465488	Splice_Site	SNP	C	TCGA-FG-8185-01A-11D-2253-08	46901751	102465488	32541028	28	45073											
MDM2	4193	broad.mit.edu	37	chr12	69230521	69230521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaagaagatcctgaaattTccttagctgtaagtatacat	14	14	7	6	0	0	4	0	2	0	2	2	4	2	4	2	0	2	3	2	0	7	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:69230521T>C	ENST00000462284.1	+	10	1212	c.910T>C	c.(910-912)Tcc>Ccc	p.S304P	MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000350057.5_Missense_Mutation_p.S273P|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Missense_Mutation_p.S128P|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Missense_Mutation_p.S103P|MDM2_ENST00000258149.5_Missense_Mutation_p.S243P|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Missense_Mutation_p.S103P|MDM2_ENST00000258148.7_Missense_Mutation_p.S249P|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000299252.4_Missense_Mutation_p.S128P|MDM2_ENST00000393413.3_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	298	ARF-binding.|Interaction with MTBP (By similarity).|Necessary for interaction with USP2.|Region II.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TCCTGAAATTTCCTTAGCTGT	0.308			A		"sarcoma, glioma, colorectal, other"								C	69230521	T	C	69230521	3	2	486	1	0	0	0	0	1	0	0	0	9488	1783	62	3	948	3	MDM2	12	69230521	Missense_Mutation	SNP	T	TCGA-FG-8185-01A-11D-2253-08		69230521	64621374	29	45074											
PTPRB	5787	broad.mit.edu	37	chr12	71002871	71002871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtttgcaagaccactgttctCtcttcatccagagaaataat	12	13	6	10	0	3	2	1	0	2	2	5	3	4	2	2	0	1	3	2	0	3	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr12:71002871C>T	ENST00000334414.6	-	4	1001	c.957G>A	c.(955-957)gaG>gaA	p.E319E	PTPRB_ENST00000451516.2_Silent_p.E101E|PTPRB_ENST00000261266.5_Silent_p.E101E|PTPRB_ENST00000550358.1_Silent_p.E319E|PTPRB_ENST00000551525.1_Silent_p.E318E|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000538708.1_Silent_p.E101E|PTPRB_ENST00000550857.1_Silent_p.E101E	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	101	Fibronectin type-III 4.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCACTGTTCTCTCTTCATCCA	0.463													T	71002871	C	T	71002871	2	4	486	1	0	0	0	0	0	0	0	1	12884	912	32	2		2	PTPRB	12	71002871	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	1772350	71002871	62849024	30	45075											
GALC	2581	broad.mit.edu	37	chr14	88454494	88454494	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaattctcctacctgttgTctgcccatcaccacctattt	8	14	3	16	0	3	0	1	0	2	0	4	0	3	0	6	0	2	1	6	0	3	5			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr14:88454494T>A	ENST00000261304.2	-	3	428	c.322A>T	c.(322-324)Aca>Tca	p.T108S	GALC_ENST00000393568.4_Missense_Mutation_p.T85S|GALC_ENST00000393569.2_Missense_Mutation_p.T82S|GALC_ENST00000544807.2_Missense_Mutation_p.T52S|GALC_ENST00000554916.1_5'UTR	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	108					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTACCTGTTGTCTGCCCATCA	0.358													A	88454494	T	A	88454494	3	1	486	1	0	0	0	0	1	0	0	0	6255	1667	58	5	1858	5	GALC	14	88454494	Missense_Mutation	SNP	T	TCGA-FG-8185-01A-11D-2253-08		88454494	18895046	31	45076											
LIPC	3990	broad.mit.edu	37	chr15	58855814	58855814	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaaacagtgcagtgtgggCcaatgtctgggacacggtcc	10	7	15	9	1	1	0	0	0	1	0	2	2	2	2	2	4	2	1	2	4	3	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr15:58855814C>T	ENST00000414170.3	+	9	1567	c.1280C>T	c.(1279-1281)gCc>gTc	p.A427V	LIPC_ENST00000433326.2_Missense_Mutation_p.A366V|LIPC_ENST00000299022.5_Missense_Mutation_p.A427V|LIPC_ENST00000356113.6_Missense_Mutation_p.A427V			P11150	LIPC_HUMAN	lipase, hepatic	427	PLAT.				cholesterol homeostasis|chylomicron remnant clearance|fatty acid biosynthetic process|high-density lipoprotein particle remodeling|intermediate-density lipoprotein particle remodeling|low-density lipoprotein particle remodeling|phosphatidylcholine catabolic process|triglyceride catabolic process|triglyceride homeostasis|very-low-density lipoprotein particle remodeling	high-density lipoprotein particle	apolipoprotein binding|heparin binding|low-density lipoprotein particle binding|phospholipase activity|triglyceride lipase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		Colorectal(260;0.215)		GBM - Glioblastoma multiforme(80;0.00213)|all cancers(107;0.00548)		GCAGTGTGGGCCAATGTCTGG	0.507													T	58855814	C	T	58855814	3	4	486	1	0	0	0	0	1	0	0	0	8881	739	26	2	1310	2	LIPC	15	58855814	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		58855814	43675578	32	45077											
SOCS1	8651	broad.mit.edu	37	chr16	11349039	11349039	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcgcgcaccaggaaggtGcccacgggctcggcgcgcag	6	4	16	15	6	0	0	0	0	0	0	2	1	0	1	2	4	1	3	2	4	1	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:11349039G>T	ENST00000332029.2	-	2	447	c.297C>A	c.(295-297)ggC>ggA	p.G99G	RMI2_ENST00000572173.1_Intron	NM_003745.1	NP_003736.1	O15524	SOCS1_HUMAN	suppressor of cytokine signaling 1	99	SH2.				interferon-gamma-mediated signaling pathway|JAK-STAT cascade|negative regulation of insulin receptor signaling pathway|negative regulation of tyrosine phosphorylation of Stat3 protein|regulation of growth|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol	insulin-like growth factor receptor binding|protein kinase binding|protein kinase inhibitor activity	p.Y64fs*1(1)|p.0?(1)|p.D63_Q108del(1)		breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(66)|lung(3)	71						CCAGGAAGGTGCCCACGGGCT	0.706			"F, O"		"Hodgkin Lymphoma, PMBL"								T	11349039	G	T	11349039	2	4	486	1	0	0	0	0	0	0	0	1	15007	1306	46	4		4	SOCS1	16	11349039	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08		11349039	79005714	33	45078											
FAM192A	80011	broad.mit.edu	37	chr16	57206707	57206707	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaatttgaactgttcctcGtactcctgctgcttcctgtc	5	16	7	13	1	0	2	0	2	0	0	5	2	3	2	3	0	4	4	3	0	3	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:57206707G>A	ENST00000566077.1	-	0	360				FAM192A_ENST00000309137.8_Silent_p.Y69Y|FAM192A_ENST00000567439.1_Silent_p.Y69Y|FAM192A_ENST00000389447.5_Silent_p.Y69Y|FAM192A_ENST00000569266.1_Silent_p.Y69Y|FAM192A_ENST00000564108.1_Silent_p.Y69Y			Q9GZU8	F192A_HUMAN	family with sequence similarity 192, member A							nucleus				endometrium(2)|large_intestine(3)|lung(4)|prostate(2)	11						ACTGTTCCTCGTACTCCTGCT	0.468													A	57206707	G	A	57206707	1	1	486	1	0	0	0	0	0	0	0	0	5570	1140	40	1		1	FAM192A	16	57206707	Translation_Start_Site	SNP	G	TCGA-FG-8185-01A-11D-2253-08	45857668	57206707	33148046	34	45079											
ANKRD11	29123	broad.mit.edu	37	chr16	89351668	89351668	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatatcgtatgtgccgagaGtctcagcttctctcctgtcc	7	13	8	13	2	2	1	1	0	2	1	7	2	4	1	3	0	2	2	3	0	3	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr16:89351668G>C	ENST00000301030.4	-	9	1742	c.1282C>G	c.(1282-1284)Ctc>Gtc	p.L428V	ANKRD11_ENST00000378330.2_Missense_Mutation_p.L428V	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	428						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TGTGCCGAGAGTCTCAGCTTC	0.488													C	89351668	G	C	89351668	3	2	486	1	0	0	0	0	1	0	0	0	639	1029	36	4	6729	4	ANKRD11	16	89351668	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	32144961	89351668	1003085	35	45080											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578203C>A	ENST00000420246.2	-	6	778	c.646G>T	c.(646-648)Gtg>Ttg	p.V216L	TP53_ENST00000413465.2_Missense_Mutation_p.V216L|TP53_ENST00000445888.2_Missense_Mutation_p.V216L|TP53_ENST00000269305.4_Missense_Mutation_p.V216L|TP53_ENST00000455263.2_Missense_Mutation_p.V216L|TP53_ENST00000359597.4_Missense_Mutation_p.V216L|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537		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)			A	7578203	C	A	7578203	3	1	486	1	0	0	0	0	1	0	0	0	16482	478	17	4	648	4	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08		7578203	73617007	36	45081											
TP53	7157	broad.mit.edu	37	chr17	7578265	7578265	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaatttccttccactcggAtaagatgctgaggaggggcc	10	9	12	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	2	3	4	2	3			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:7578265A>T	ENST00000420246.2	-	6	716	c.584T>A	c.(583-585)aTc>aAc	p.I195N	TP53_ENST00000413465.2_Missense_Mutation_p.I195N|TP53_ENST00000445888.2_Missense_Mutation_p.I195N|TP53_ENST00000269305.4_Missense_Mutation_p.I195N|TP53_ENST00000455263.2_Missense_Mutation_p.I195N|TP53_ENST00000359597.4_Missense_Mutation_p.I195N|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195T(69)|p.I195N(12)|p.I195S(10)|p.0?(8)|p.I195fs*14(5)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102S(2)|p.I102T(2)|p.I63T(2)|p.I63S(2)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.I102fs*14(1)|p.I195fs*12(1)|p.I195fs*50(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I63fs*14(1)|p.H193_I195>AP(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)		TTCCACTCGGATAAGATGCTG	0.552		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)			T	7578265	A	T	7578265	3	4	486	1	0	0	0	0	1	0	0	0	16482	333	12	5	710	5	TP53	17	7578265	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08	62	7578265	73616945	37	45082											
UBB	7314	broad.mit.edu	37	chr17	16285491	16285491	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgaccggcaagaccatcacCctggaagtggagcccagtga	11	5	12	13	1	1	3	1	2	0	1	1	5	1	5	4	3	1	1	4	3	2	0	rs16962973		TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:16285491C>T	ENST00000302182.3	+	2	662	c.270C>T	c.(268-270)acC>acT	p.T90T	UBB_ENST00000578649.1_Intron|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.T90T|RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000395839.1_Silent_p.T90T	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	90	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AGACCATCACCCTGGAAGTGG	0.552													T	16285491	C	T	16285491	2	4	486	1	0	0	0	0	0	0	0	1	16943	610	22	2		2	UBB	17	16285491	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	8707226	16285491	64909719	38	45083											
EFCAB5	374786	broad.mit.edu	37	chr17	28409944	28409944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttagcactgcctatcactaCgtccacagccgggagcacat	10	9	8	14	2	1	0	1	0	0	0	2	1	2	1	3	1	5	2	3	1	3	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:28409944C>T	ENST00000394835.3	+	18	3654	c.3462C>T	c.(3460-3462)taC>taT	p.Y1154Y	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.Y1030Y	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1154							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CCTATCACTACGTCCACAGCC	0.398													T	28409944	C	T	28409944	2	4	486	1	0	0	0	0	0	0	0	1	4977	547	19	1		1	EFCAB5	17	28409944	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	12124453	28409944	52785266	39	45084											
CCL11	6356	broad.mit.edu	37	chr17	32612839	32612839	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccaacatgaaggtctcCgcagcacttctgtggctgct	7	10	10	14	1	2	1	0	1	2	0	4	1	3	1	3	2	3	4	3	2	2	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:32612839C>T	ENST00000305869.3	+	1	153	c.12C>T	c.(10-12)tcC>tcT	p.S4S		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	4					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		TGAAGGTCTCCGCAGCACTTC	0.597													T	32612839	C	T	32612839	2	4	486	1	0	0	0	0	0	0	0	1	2911	639	23	1		1	CCL11	17	32612839	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	4202895	32612839	48582371	40	45085											
CASKIN2	57513	broad.mit.edu	37	chr17	73502705	73502705	+	Silent	SNP	G	G	T																															ttcttggcagccaagtgcagGggcgtggtgtagttggggtc																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502705G>T	ENST00000321617.3	-	7	1162	c.576C>A	c.(574-576)ccC>ccA	p.P192P	CASKIN2_ENST00000433559.2_Silent_p.P110P|CASKIN2_ENST00000581870.1_Silent_p.P192P	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CCAAGTGCAGGGGCGTGGTGT	0.622													T	73502705	G	T	73502705	2	4	486	1	0	0	0	0	0	0	0	1	2693	1219	43	4		4	CASKIN2	17	73502705	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	40889866	73502705	7692505	41	45086	147	2									
CASKIN2	57513	broad.mit.edu	37	chr17	73502707	73502707	+	Missense_Mutation	SNP	G	G	C																															cttggcagccaagtgcagggGcgtggtgtagttggggtcac																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr17:73502707G>C	ENST00000321617.3	-	7	1160	c.574C>G	c.(574-576)Ccc>Gcc	p.P192A	CASKIN2_ENST00000433559.2_Missense_Mutation_p.P110A|CASKIN2_ENST00000581870.1_Missense_Mutation_p.P192A	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	192						cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			AAGTGCAGGGGCGTGGTGTAG	0.622													C	73502707	G	C	73502707	3	2	486	1	0	0	0	0	1	0	0	0	2693	1203	42	4	3090	4	CASKIN2	17	73502707	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	2	73502707	7692503	42	45087	147	2									
LAMA1	284217	broad.mit.edu	37	chr18	7023260	7023260	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaggcacttcaggcactcCccggtgactgagtcacagtg	8	7	11	15	1	2	2	2	2	0	0	3	2	3	2	3	3	0	2	3	3	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:7023260C>A	ENST00000389658.3	-	19	2697	c.2604G>T	c.(2602-2604)ggG>ggT	p.G868G		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	868	Laminin EGF-like 8.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	p.G868G(1)		NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCAGGCACTCCCCGGTGACTG	0.602													A	7023260	C	A	7023260	2	1	486	1	0	0	0	0	0	0	0	1	8664	610	22	4		4	LAMA1	18	7023260	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08		7023260	71053988	43	45088											
TCEB3B	51224	broad.mit.edu	37	chr18	44561111	44561111	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggcatccggaggggagcTgtgcgcgttggagaggcccg	5	6	20	10	5	0	1	0	0	0	1	2	4	1	3	2	6	2	3	2	6	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:44561111T>G	ENST00000332567.4	-	1	877	c.525A>C	c.(523-525)acA>acC	p.T175T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	175					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						GGAGGGGAGCTGTGCGCGTTG	0.687													G	44561111	T	G	44561111	2	3	486	1	0	0	0	0	0	0	0	1	15782	1567	55	5		5	TCEB3B	18	44561111	Silent	SNP	T	TCGA-FG-8185-01A-11D-2253-08	37537851	44561111	33516137	44	45089											
STARD6	147323	broad.mit.edu	37	chr18	51858176	51858176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagtcgataaagtctcgaggGgaaatggagcccacggcaaa	15	5	13	8	3	1	0	0	0	1	0	3	4	1	2	1	4	1	1	1	4	5	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:51858176G>A	ENST00000580990.2	-	3	263	c.43C>T	c.(43-45)Ccc>Tcc	p.P15S	STARD6_ENST00000581310.1_Silent_p.S107S|STARD6_ENST00000307844.3_Silent_p.S107S			P59095	STAR6_HUMAN	StAR-related lipid transfer (START) domain containing 6	217	START.				lipid transport		lipid binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)	8				Colorectal(16;0.021)|READ - Rectum adenocarcinoma(59;0.188)		AGTCTCGAGGGGAAATGGAGC	0.368													A	51858176	G	A	51858176	3	1	486	1	0	0	0	0	1	0	0	0	15357	1219	43	2	352	2	STARD6	18	51858176	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	7297065	51858176	26219072	45	45090											
TSHZ1	10194	broad.mit.edu	37	chr18	72999933	72999933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgcccaagtcctccacGccctccacagtttcagagaa	10	7	7	17	2	1	2	1	1	0	1	4	3	4	2	5	0	0	1	5	0	2	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr18:72999933G>A	ENST00000322038.5	+	2	3020	c.2436G>A	c.(2434-2436)acG>acA	p.T812T	TSHZ1_ENST00000580243.1_Silent_p.T857T	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	857						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		AGTCCTCCACGCCCTCCACAG	0.602													A	72999933	G	A	72999933	2	1	486	1	0	0	0	0	0	0	0	1	16724	1074	38	1		1	TSHZ1	18	72999933	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	21141757	72999933	5077315	46	45091											
CSNK1G2	1455	broad.mit.edu	37	chr19	1979554	1979554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttcgagaagcccgactAtgactacctgcggaagctct	9	10	9	13	3	2	2	0	1	2	1	3	5	2	3	2	1	4	1	2	1	4	4			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:1979554A>G	ENST00000255641.8	+	9	1409	c.914A>G	c.(913-915)tAt>tGt	p.Y305C		NM_001319.6	NP_001310.3	P78368	KC1G2_HUMAN	casein kinase 1, gamma 2	305	Protein kinase.				sphingolipid metabolic process|Wnt receptor signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity			endometrium(1)|kidney(1)|lung(3)|prostate(1)|skin(1)|stomach(1)	8		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		AAGCCCGACTATGACTACCTG	0.652													G	1979554	A	G	1979554	3	3	486	1	0	0	0	0	1	0	0	0	3988	449	16	3	944	3	CSNK1G2	19	1979554	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08		1979554	57149429	47	45092											
ICAM1	3383	broad.mit.edu	37	chr19	10394873	10394873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacagtcacctatggcaacGactccttctcggccaaggcc	9	7	8	17	2	2	0	1	0	1	0	4	1	3	0	5	3	1	1	5	3	3	2			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:10394873G>A	ENST00000264832.3	+	4	1127	c.802G>A	c.(802-804)Gac>Aac	p.D268N	CTD-2369P2.5_ENST00000592893.1_RNA|ICAM1_ENST00000423829.2_Missense_Mutation_p.D46N	NM_000201.2	NP_000192.2	P05362	ICAM1_HUMAN	intercellular adhesion molecule 1	268	Ig-like C2-type 3.				adhesion to symbiont|heterophilic cell-cell adhesion|interferon-gamma-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking|positive regulation of cellular extravasation|regulation of immune response|regulation of leukocyte mediated cytotoxicity|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell|virion attachment, binding of host cell surface receptor	extracellular space|integral to plasma membrane	integrin binding|transmembrane receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(20;1.39e-09)|Epithelial(33;2.81e-06)|all cancers(31;6.56e-06)		Natalizumab(DB00108)|Simvastatin(DB00641)	CTATGGCAACGACTCCTTCTC	0.632													A	10394873	G	A	10394873	3	1	486	1	0	0	0	0	1	0	0	0	7537	1058	37	1	816	1	ICAM1	19	10394873	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	8415319	10394873	48734110	48	45093											
AKAP8	10270	broad.mit.edu	37	chr19	15472624	15472624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattttcttatttctgtttaCaatgtattcctaggtgggat	9	20	7	5	0	2	0	0	0	2	0	3	1	3	1	1	2	1	2	1	2	6	9			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:15472624C>G	ENST00000269701.2	-	11	1372	c.1312G>C	c.(1312-1314)Gta>Cta	p.V438L		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	438					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TTTCTGTTTACAATGTATTCC	0.458													G	15472624	C	G	15472624	3	3	486	1	0	0	0	0	1	0	0	0	457	478	17	4	782	4	AKAP8	19	15472624	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	5077751	15472624	43656359	49	45094											
ADCK4	79934	broad.mit.edu	37	chr19	41197999	41197999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgccggcagtggctgcgtCtggctggcgactggcccagt	3	8	17	13	3	1	0	0	0	1	0	1	1	1	0	2	5	2	4	2	5	0	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:41197999C>G	ENST00000324464.3	-	15	1877	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	ADCK4_ENST00000450541.1_Missense_Mutation_p.D485H|ADCK4_ENST00000243583.6_Missense_Mutation_p.D485H	NM_024876.3	NP_079152.3	Q96D53	ADCK4_HUMAN	aarF domain containing kinase 4	526						integral to membrane	protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(6)|stomach(2)|urinary_tract(1)	17			Lung(22;9.49e-05)|LUSC - Lung squamous cell carcinoma(20;0.000219)			GTGGCTGCGTCTGGCTGGCGA	0.672													G	41197999	C	G	41197999	3	3	486	1	0	0	0	0	1	0	0	0	290	913	32	4	62	4	ADCK4	19	41197999	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	25725375	41197999	17930984	50	45095											
TFPT	29844	broad.mit.edu	37	chr19	54611378	54611379	+	Frame_Shift_Ins	INS	-	-	CCATC																															gcgcatttcctgctcggcgtINSccatcccgtggcactcgccg																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:54611378_54611379insCCATC	ENST00000391759.1	-	5	1001_1002	c.596_597insGATGG	c.(595-597)ggafs	p.-199fs	TFPT_ENST00000391758.1_Frame_Shift_Ins_p.-190fs|TFPT_ENST00000391757.1_Frame_Shift_Ins_p.D187fs|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)						apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTGCTCGGCGTCCATCCCGTGG	0.713			T	TCF3	pre-B ALL								CCATC	54611379	-	CCATC	54611378	7	5	486	1	0	1	1	0	0	0	0	0	15910	1654	58	0	172	0	TFPT	19	54611378	Frame_Shift_Ins	INS	-	TCGA-FG-8185-01A-11D-2253-08	13413379	54611378	4517605	51	45096											
ZNF460	10794	broad.mit.edu	37	chr19	57802257	57802257	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggacagacccacagagtgaGaaactccatgggaaaatgag	16	4	13	8	0	0	4	0	2	0	3	1	7	1	6	2	2	1	0	2	2	3	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr19:57802257G>C	ENST00000360338.3	+	3	670	c.348G>C	c.(346-348)gaG>gaC	p.E116D	ZNF460_ENST00000537645.1_Missense_Mutation_p.E75D	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	116					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CACAGAGTGAGAAACTCCATG	0.473													C	57802257	G	C	57802257	3	2	486	1	0	0	0	0	1	0	0	0	18025	933	33	4	358	4	ZNF460	19	57802257	Missense_Mutation	SNP	G	TCGA-FG-8185-01A-11D-2253-08	3190879	57802257	1326726	52	45097											
GFRA4	64096	broad.mit.edu	37	chr20	3644008	3644010	+	In_Frame_Del	DEL	CAG	CAG	-																															gaggggcgctcacccagtaaCagcagcagcagcagcgcagg																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:3644008_3644010delCAG	ENST00000290417.2	-	1	36_38	c.37_39delCTG	c.(37-39)ctgdel	p.L15del	GFRA4_ENST00000319242.3_In_Frame_Del_p.L15del	NM_022139.3|NM_145762.2	NP_071422.1|NP_665705.1	Q9GZZ7	GFRA4_HUMAN	GDNF family receptor alpha 4	15						anchored to membrane|extracellular region|plasma membrane	receptor activity			large_intestine(1)|lung(2)	3						CACCCAGTAACAGCAGCAGCAGC	0.621													-	3644010	CAG	-	3644008	7	5	486	1	0	1	0	1	0	0	0	0	6406	465	17	0	880	0	GFRA4	20	3644008	In_Frame_Del	DEL	CAG	TCGA-FG-8185-01A-11D-2253-08		3644008	59381512	53	45098											
MYH7B	57644	broad.mit.edu	37	chr20	33567544	33567544	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggacatggccatgatgacGcacctgaacgaggcctctgt	10	7	13	11	2	1	3	0	3	1	0	1	6	1	4	3	3	1	1	3	3	1	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33567544G>A	ENST00000262873.7	+	5	497	c.405G>A	c.(403-405)acG>acA	p.T135T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	93	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CCATGATGACGCACCTGAACG	0.637													A	33567544	G	A	33567544	2	1	486	1	0	0	0	0	0	0	0	1	10116	1074	38	1		1	MYH7B	20	33567544	Silent	SNP	G	TCGA-FG-8185-01A-11D-2253-08	29923536	33567544	29457976	54	45099											
MMP24	10893	broad.mit.edu	37	chr20	33862232	33862232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcggctgccccaggacgaCgtggacatcatggtgaccat	8	6	14	13	4	1	1	1	1	0	0	1	4	1	3	3	5	1	1	3	5	0	0			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:33862232C>T	ENST00000246186.6	+	9	1843	c.1758C>T	c.(1756-1758)gaC>gaT	p.D586D	MMP24-AS1_ENST00000438751.1_RNA|EDEM2_ENST00000540582.1_Intron|MMP24-AS1_ENST00000455178.1_RNA|RP4-614O4.11_ENST00000444717.1_RNA|MMP24-AS1_ENST00000456350.1_RNA|MMP24-AS1_ENST00000433764.1_RNA|MMP24-AS1_ENST00000454184.1_RNA|MMP24-AS1_ENST00000566203.2_RNA	NM_006690.3	NP_006681.1	Q9Y5R2	MMP24_HUMAN	matrix metallopeptidase 24 (membrane-inserted)	586					proteolysis	integral to plasma membrane|proteinaceous extracellular matrix	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(3)|large_intestine(1)|lung(2)|prostate(2)|skin(5)	14			BRCA - Breast invasive adenocarcinoma(18;0.00252)			CCCAGGACGACGTGGACATCA	0.657													T	33862232	C	T	33862232	2	4	486	1	0	0	0	0	0	0	0	1	9737	535	19	1		1	MMP24	20	33862232	Silent	SNP	C	TCGA-FG-8185-01A-11D-2253-08	294688	33862232	29163288	55	45100											
KCNB1	3745	broad.mit.edu	37	chr20	48098819	48098819	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gcacacctcgagcagcgagtCgtgcgtgttgcagtcgcgga	7	7	15	12	6	0	0	0	0	0	0	3	3	0	1	1	1	4	4	1	1	0	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr20:48098819C>G	ENST00000371741.4	-	1	365	c.199G>C	c.(199-201)Gac>Cac	p.D67H		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	67					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGCAGCGAGTCGTGCGTGTTG	0.662													G	48098819	C	G	48098819	3	3	486	1	0	0	0	0	1	0	0	0	8070	884	31	4	2385	4	KCNB1	20	48098819	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	14236587	48098819	14926701	56	45101											
KRTAP10-2	386679	broad.mit.edu	37	chr21	45971107	45971107	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctagactgctggcagcAcgagggcgtgcaggagctgg	8	5	18	10	2	0	1	0	0	0	1	0	3	0	2	0	4	5	7	0	4	1	1			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chr21:45971107A>G	ENST00000391621.1	-	1	281	c.235T>C	c.(235-237)Tgc>Cgc	p.C79R	KRTAP10-2_ENST00000498210.1_Intron|TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198693.2	NP_941966.1	P60368	KR102_HUMAN	keratin associated protein 10-2	79	22 X 5 AA repeats of C-C-X(3).					keratin filament				large_intestine(1)|lung(4)|skin(1)	6						TGCTGGCAGCACGAGGGCGTG	0.692													G	45971107	A	G	45971107	3	3	486	1	0	0	0	0	1	0	0	0	8567	159	6	3	536	3	KRTAP10-2	21	45971107	Missense_Mutation	SNP	A	TCGA-FG-8185-01A-11D-2253-08		45971107	2158788	57	45102											
ATRX	546	broad.mit.edu	37	chrX	76939914	76939915	+	Frame_Shift_Del	DEL	AG	AG	-																															tcaaatacgctgttacatgcAgtgaccaagtccaacaaagg																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:76939914_76939915delAG	ENST00000373344.5	-	9	1047_1048	c.833_834delCT	c.(832-834)actfs	p.T278fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.T240fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	278	ADD.				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)	TGTTACATGCAGTGACCAAGTC	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939915	AG	-	76939914	7	5	486	1	0	1	0	1	0	0	0	0	1213	175	7	0	6752	0	ATRX	23	76939914	Frame_Shift_Del	DEL	AG	TCGA-FG-8185-01A-11D-2253-08		76939914	78330646	58	45103											
FRMD7	90167	broad.mit.edu	37	chrX	131214292	131214292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaagttgcctttgggttcgtCcactatcataaggaacaata	13	12	8	8	1	1	0	1	0	0	0	3	1	2	1	2	2	2	2	2	2	6	6			TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:131214292C>G	ENST00000298542.4	-	10	1083	c.908G>C	c.(907-909)gGa>gCa	p.G303A	FRMD7_ENST00000370879.1_Missense_Mutation_p.G183A|FRMD7_ENST00000464296.1_Missense_Mutation_p.G288A	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	303					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGGGTTCGTCCACTATCATA	0.373													G	131214292	C	G	131214292	3	3	486	1	0	0	0	0	1	0	0	0	6107	855	30	4	1248	4	FRMD7	23	131214292	Missense_Mutation	SNP	C	TCGA-FG-8185-01A-11D-2253-08	54274378	131214292	24056268	59	45104											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G																															ctgctgctcttccttgccgtINSggggggggccctgggcaaca																										TCGA-FG-8185-01A-11D-2253-08	TCGA-FG-8185-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae4ac656-6510-4297-9f72-ebccd48cf244	d9f613fd-47f3-4f89-a073-b75fad63df72	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													G	153688565	-	G	153688564	7	5	486	1	0	1	1	0	0	0	0	0	12198	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-FG-8185-01A-11D-2253-08	22474272	153688564	1581996	60	45105											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													T	153907309	C	T	153907309	2	4	487	1	0	0	0	0	0	0	0	1	4473	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-FG-8186-01A-11D-2253-08		153907309	95343312	1	45106											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	487	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		209113112	34086261	2	45107											
NGEF	25791	broad.mit.edu	37	chr2	233757683	233757683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacagagaagtggtcggccGcataacggtacacaatgtca	14	6	12	9	3	1	2	1	0	0	2	2	3	1	2	1	3	2	2	1	3	4	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr2:233757683G>A	ENST00000264051.3	-	7	1345	c.1067C>T	c.(1066-1068)gCg>gTg	p.A356V	NGEF_ENST00000539537.1_Missense_Mutation_p.A79V|NGEF_ENST00000373552.4_Missense_Mutation_p.A264V	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	356	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GTGGTCGGCCGCATAACGGTA	0.562													A	233757683	G	A	233757683	3	1	487	1	0	0	0	0	1	0	0	0	10470	1087	38	1	1101	1	NGEF	2	233757683	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	24644571	233757683	9441690	3	45108											
SETMAR	6419	broad.mit.edu	37	chr3	4358185	4358185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagttgctgaagaactcaAtgtcaaccattctacggtcg	13	10	9	9	2	3	3	2	1	1	2	4	3	3	3	1	1	4	2	1	1	6	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:4358185A>G	ENST00000358065.4	+	3	1377	c.1310A>G	c.(1309-1311)aAt>aGt	p.N437S	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Missense_Mutation_p.N298S	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	424	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		gaagaactcaatgtcaaccat	0.448								Chromatin Structure					G	4358185	A	G	4358185	3	3	487	1	0	0	0	0	1	0	0	0	14233	101	4	3	1320	3	SETMAR	3	4358185	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08		4358185	193664245	4	45109											
CLDN16	10686	broad.mit.edu	37	chr3	190120187	190120187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatgcttttgatgggattcGcacctgtgatgagtacgatt	10	14	11	6	2	0	3	0	3	0	0	1	5	0	4	1	1	2	3	1	1	2	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr3:190120187G>A	ENST00000264734.2	+	2	634	c.386G>A	c.(385-387)cGc>cAc	p.R129H	CLDN16_ENST00000468220.1_3'UTR|CLDN16_ENST00000456423.1_Intron	NM_006580.3	NP_006571.1	Q9Y5I7	CLD16_HUMAN	claudin 16	129					calcium-independent cell-cell adhesion|cellular metal ion homeostasis|excretion	integral to membrane|tight junction	identical protein binding|magnesium ion transmembrane transporter activity|structural molecule activity			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|skin(1)	19	all_cancers(143;3.61e-10)|Ovarian(172;0.0991)		Lung(62;2.23e-05)|LUSC - Lung squamous cell carcinoma(58;3.15e-05)	GBM - Glioblastoma multiforme(93;0.018)		GATGGGATTCGCACCTGTGAT	0.488													A	190120187	G	A	190120187	3	1	487	1	0	0	0	0	1	0	0	0	3508	1087	38	1	392	1	CLDN16	3	190120187	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	185762002	190120187	7902243	5	45110											
DKK2	27123	broad.mit.edu	37	chr4	107956552	107956552	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtttttgcccttcttaCtgccgccgaatgccagtcct	5	13	8	15	2	1	0	0	0	1	0	2	1	2	0	6	1	4	1	6	1	2	4			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:107956552C>G	ENST00000285311.3	-	1	902	c.197G>C	c.(196-198)aGt>aCt	p.S66T	DKK2_ENST00000513208.1_Intron|DKK2_ENST00000510463.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	66					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GCCCTTCTTACTGCCGCCGAA	0.577													G	107956552	C	G	107956552	3	3	487	1	0	0	0	0	1	0	0	0	4584	565	20	4	598	4	DKK2	4	107956552	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		107956552	83197724	6	45111											
GUCY1A3	2982	broad.mit.edu	37	chr4	156631972	156631972	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgattcttcccggcatcAtaaaggcagctgctcacgta	9	10	8	14	2	3	1	2	1	1	0	4	1	4	1	2	2	2	5	2	2	3	4			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr4:156631972A>G	ENST00000296518.7	+	6	864	c.655A>G	c.(655-657)Ata>Gta	p.I219V	GUCY1A3_ENST00000506455.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.I219V|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000511108.1_Missense_Mutation_p.I219V|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.I219V			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	219					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		TCCCGGCATCATAAAGGCAGC	0.458													G	156631972	A	G	156631972	3	3	487	1	0	0	0	0	1	0	0	0	6949	217	8	3	669	3	GUCY1A3	4	156631972	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	48675420	156631972	34522304	7	45112											
OR2Y1	134083	broad.mit.edu	37	chr5	180166657	180166657	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgggggtgcatgatGgccatgtagtggagtggacg	9	8	19	5	1	0	2	0	1	0	1	0	5	0	4	1	5	1	2	1	5	1	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180166657G>T	ENST00000307832.2	-	1	442	c.402C>A	c.(400-402)gcC>gcA	p.A134A		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTGCATGATGGCCATGTAGT	0.587													T	180166657	G	T	180166657	2	4	487	1	0	0	0	0	0	0	0	1	11111	1335	47	4		4	OR2Y1	5	180166657	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		180166657	748603	8	45113											
BTNL8	79908	broad.mit.edu	37	chr5	180338435	180338435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggttcccccggcccacagCgaagtggaaaggtccacaag	10	5	12	14	2	0	0	0	0	0	0	2	2	2	1	4	4	1	1	4	4	3	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr5:180338435C>T	ENST00000231229.4	+	3	728	c.494C>T	c.(493-495)gCg>gTg	p.A165V	BTNL8_ENST00000400707.3_Missense_Mutation_p.A40V|BTNL8_ENST00000505126.1_5'UTR|BTNL8_ENST00000340184.4_Missense_Mutation_p.A165V|BTNL8_ENST00000511704.1_Missense_Mutation_p.A49V|BTNL8_ENST00000508408.1_Missense_Mutation_p.A165V|BTNL8_ENST00000533815.2_5'UTR	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	165	Ig-like V-type 2.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGCCCACAGCGAAGTGGAAA	0.537													T	180338435	C	T	180338435	3	4	487	1	0	0	0	0	1	0	0	0	1577	768	27	1	530	1	BTNL8	5	180338435	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	171778	180338435	576825	9	45114											
PHF3	23469	broad.mit.edu	37	chr6	64394227	64394227	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaatagaaggtgcagcCgaaatagcggacaaattgaa	18	5	13	5	2	0	3	0	1	0	2	0	6	0	4	1	3	3	1	1	3	7	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr6:64394227C>T	ENST00000262043.3	+	4	944	c.604C>T	c.(604-606)Cga>Tga	p.R202*	PHF3_ENST00000393387.1_Nonsense_Mutation_p.R202*|PHF3_ENST00000509330.1_Nonsense_Mutation_p.R202*			Q92576	PHF3_HUMAN	PHD finger protein 3	202					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AAGGTGCAGCCGAAATAGCGG	0.403													T	64394227	C	T	64394227	4	4	487	1	0	0	0	0	0	1	0	0	11913	644	23	1	614	1	PHF3	6	64394227	Nonsense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		64394227	106720840	10	45115											
DPY19L1	23333	broad.mit.edu	37	chr7	34977700	34977700	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttcggctgctttccgacTatacattgagtatactattt	8	18	6	9	2	1	1	0	1	1	0	3	2	2	1	1	1	3	3	1	1	5	10			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:34977700T>A	ENST00000310974.4	-	21	1921	c.1777A>T	c.(1777-1779)Agt>Tgt	p.S593C		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	593						integral to membrane				endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						GCTTTCCGACTATACATTGAG	0.328													A	34977700	T	A	34977700	3	1	487	1	0	0	0	0	1	0	0	0	4779	1522	53	5	258	5	DPY19L1	7	34977700	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08		34977700	124160963	11	45116											
H2AFV	94239	broad.mit.edu	37	chr7	44875212	44875212	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgacgcggagtgatacGctttactttgagatccttag	10	12	11	8	3	0	3	0	3	0	1	1	5	1	4	1	1	2	1	1	1	4	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:44875212G>T	ENST00000222690.6	-	4	346	c.241C>A	c.(241-243)Cgt>Agt	p.R81S	H2AFV_ENST00000349299.3_Missense_Mutation_p.R43S|H2AFV_ENST00000446531.1_Missense_Mutation_p.R81S|H2AFV_ENST00000350771.3_Missense_Mutation_p.R55S|H2AFV_ENST00000381124.5_Intron|H2AFV_ENST00000521529.1_Intron|H2AFV_ENST00000308153.4_Missense_Mutation_p.R81S|H2AFV_ENST00000437072.1_Missense_Mutation_p.R43S	NM_138635.3	NP_619541.1	Q71UI9	H2AV_HUMAN	H2A histone family, member V	81					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	9						GGAGTGATACGCTTTACTTTG	0.448													T	44875212	G	T	44875212	3	4	487	1	0	0	0	0	1	0	0	0	6982	1087	38	4	177	4	H2AFV	7	44875212	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	9897512	44875212	114263451	12	45117											
FLNC	2318	broad.mit.edu	37	chr7	128480693	128480693	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcctgggaagtatgtggtGaccatcacgtggggcggcta	7	9	17	8	2	1	1	1	1	0	0	1	2	1	2	2	5	1	2	2	5	3	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128480693G>A	ENST00000325888.8	+	10	1902	c.1641G>A	c.(1639-1641)gtG>gtA	p.V547V	FLNC_ENST00000346177.6_Silent_p.V547V	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	547					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						AGTATGTGGTGACCATCACGT	0.637													A	128480693	G	A	128480693	2	1	487	1	0	0	0	0	0	0	0	1	5984	1277	45	2		2	FLNC	7	128480693	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	83605481	128480693	30657970	13	45118											
TSPAN33	340348	broad.mit.edu	37	chr7	128804343	128804343	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaagtgagtgagatcatcaAcaatgccattgtgcactacc	14	9	9	9	0	2	2	2	2	0	1	2	4	2	2	2	0	4	1	2	0	4	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:128804343A>G	ENST00000289407.4	+	5	501	c.392A>G	c.(391-393)aAc>aGc	p.N131S		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	131						integral to membrane				NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						GAGATCATCAACAATGCCATT	0.493											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	128804343	A	G	128804343	3	3	487	1	0	0	0	0	1	0	0	0	16749	43	2	3	410	3	TSPAN33	7	128804343	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	323650	128804343	30334320	14	45119											
TBXAS1	6916	broad.mit.edu	37	chr7	139529240	139529240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatggccccatggtgacGgtggccctgtcagtggctct	5	10	15	11	1	2	2	1	2	1	0	2	2	2	2	3	5	0	1	3	5	1	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139529240G>A	ENST00000263552.6	+	5	592	c.54G>A	c.(52-54)acG>acA	p.T18T	TBXAS1_ENST00000436047.2_Silent_p.T18T|TBXAS1_ENST00000414508.2_Silent_p.T18T|TBXAS1_ENST00000425687.1_Intron|TBXAS1_ENST00000458722.1_Silent_p.T17T|TBXAS1_ENST00000455353.1_Silent_p.T17T|TBXAS1_ENST00000539806.1_Silent_p.T18T|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Silent_p.T17T|TBXAS1_ENST00000411653.1_Silent_p.T17T|TBXAS1_ENST00000416849.2_Silent_p.T18T|TBXAS1_ENST00000336425.5_Silent_p.T17T	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	17					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CCATGGTGACGGTGGCCCTGT	0.572													A	139529240	G	A	139529240	2	1	487	1	0	0	0	0	0	0	0	1	15764	1103	39	1		1	TBXAS1	7	139529240	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	10724897	139529240	19609423	15	45120											
PARP12	64761	broad.mit.edu	37	chr7	139724493	139724493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaagatcacaaagatggagGggtcggacacactgttcacg	14	6	12	9	2	2	2	2	0	0	2	3	4	2	4	0	4	0	1	0	4	2	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr7:139724493G>A	ENST00000263549.3	-	12	2846	c.1973C>T	c.(1972-1974)cCc>cTc	p.P658L		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	658	PARP catalytic.					nucleus	NAD+ ADP-ribosyltransferase activity|nucleic acid binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					AAAGATGGAGGGGTCGGACAC	0.577													A	139724493	G	A	139724493	3	1	487	1	0	0	0	0	1	0	0	0	11533	1232	43	2	136	2	PARP12	7	139724493	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	195253	139724493	19414170	16	45121											
CCIN	881	broad.mit.edu	37	chr9	36170121	36170121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaattgggtgtacttcCggaaggaggatcgggagaag	11	9	15	6	2	2	1	2	0	0	1	4	5	3	4	1	5	1	1	1	5	4	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:36170121C>T	ENST00000335119.2	+	1	733	c.622C>T	c.(622-624)Cgg>Tgg	p.R208W		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	208	BACK.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			GGTGTACTTCCGGAAGGAGGA	0.488													T	36170121	C	T	36170121	3	4	487	1	0	0	0	0	1	0	0	0	2906	643	23	1	624	1	CCIN	9	36170121	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		36170121	105043310	17	45122											
ALDH1A1	216	broad.mit.edu	37	chr9	75520934	75520934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcactgggcacttaccacgCcatagcaattcaccctgaag	11	7	9	14	1	1	1	1	1	0	0	1	1	1	1	3	2	2	3	3	2	4	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:75520934C>T	ENST00000297785.3	-	12	1427	c.1373G>A	c.(1372-1374)gGc>gAc	p.G458D		NM_000689.4	NP_000680.2	P00352	AL1A1_HUMAN	aldehyde dehydrogenase 1 family, member A1	458					cellular aldehyde metabolic process|ethanol oxidation|xenobiotic metabolic process	cytosol	aldehyde dehydrogenase (NAD) activity|androgen binding|Ras GTPase activator activity|retinal dehydrogenase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)	17					NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	ACTTACCACGCCATAGCAATT	0.343													T	75520934	C	T	75520934	3	4	487	1	0	0	0	0	1	0	0	0	490	739	26	2	140	2	ALDH1A1	9	75520934	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	39350813	75520934	65692497	18	45123											
NOTCH1	4851	broad.mit.edu	37	chr9	139412245	139412245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccccaatctggtccaggCaggtggcgtcgttctggcac	6	9	12	14	2	2	0	0	0	2	0	5	0	4	0	3	5	0	3	3	5	1	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:139412245C>A	ENST00000277541.6	-	8	1475	c.1400G>T	c.(1399-1401)tGc>tTc	p.C467F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	467	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGGTCCAGGCAGGTGGCGTC	0.677			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139412245	C	A	139412245	3	1	487	1	0	0	0	0	1	0	0	0	10623	710	25	4	6375	4	NOTCH1	9	139412245	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	63891311	139412245	1801186	19	45124											
DPP7	29952	broad.mit.edu	37	chr9	140006206	140006206	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgctggcggctctgagaTctgcaaggggcagagaaagt	9	9	16	7	1	2	2	0	1	2	2	2	4	2	2	0	4	2	5	0	4	2	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr9:140006206T>C	ENST00000371579.2	-	11	1212	c.1208A>G	c.(1207-1209)gAt>gGt	p.D403G		NM_013379.2	NP_037511.2	Q9UHL4	DPP2_HUMAN	dipeptidyl-peptidase 7	403						cytoplasmic membrane-bounded vesicle|extracellular region|lysosome	aminopeptidase activity|protein binding|serine-type peptidase activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;4.25e-05)|Epithelial(140;0.000633)		GGCTCTGAGATCTGCAAGGGG	0.652													C	140006206	T	C	140006206	5	2	487	1	0	0	0	0	0	0	1	0	4770	1449	50	3	282	3	DPP7	9	140006206	Splice_Site	SNP	T	TCGA-FG-8186-01A-11D-2253-08	593961	140006206	1207225	20	45125											
LOXL4	84171	broad.mit.edu	37	chr10	100012144	100012144	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcctccagacagaagctGgccttgtgcccctcagccac	7	8	10	16	0	1	2	1	0	0	2	3	2	3	2	6	1	3	1	6	1	1	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr10:100012144G>A	ENST00000260702.3	-	12	2067	c.1917C>T	c.(1915-1917)gcC>gcT	p.A639A	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	639	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GACAGAAGCTGGCCTTGTGCC	0.532													A	100012144	G	A	100012144	2	1	487	1	0	0	0	0	0	0	0	1	8972	1335	47	2		2	LOXL4	10	100012144	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		100012144	35522603	21	45126											
ARNTL	406	broad.mit.edu	37	chr11	13402768	13402768	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaacatcacgagtacgccTccccctgatgcctcttctcc	7	11	6	17	2	3	2	1	2	2	0	5	3	4	2	5	0	3	1	5	0	2	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:13402768T>C	ENST00000401424.1	+	18	1981	c.1455T>C	c.(1453-1455)ccT>ccC	p.P485P	ARNTL_ENST00000389708.3_3'UTR|ARNTL_ENST00000389707.4_Silent_p.P527P|ARNTL_ENST00000403482.3_Silent_p.P526P|ARNTL_ENST00000361003.4_Silent_p.P410P|ARNTL_ENST00000403510.3_Silent_p.P484P|ARNTL_ENST00000396441.3_Silent_p.P527P|ARNTL_ENST00000403290.1_Silent_p.P528P	NM_001030273.1	NP_001025444.1	O00327	BMAL1_HUMAN	aryl hydrocarbon receptor nuclear translocator-like	528					circadian rhythm|positive regulation of transcription from RNA polymerase II promoter	transcription factor complex	aryl hydrocarbon receptor binding|DNA binding|Hsp90 protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(11)|lung(5)|upper_aerodigestive_tract(1)	20				Epithelial(150;0.0243)		CGAGTACGCCTCCCCCTGATG	0.488													C	13402768	T	C	13402768	2	2	487	1	0	0	0	0	0	0	0	1	972	1538	54	3		3	ARNTL	11	13402768	Silent	SNP	T	TCGA-FG-8186-01A-11D-2253-08		13402768	121603748	22	45127											
NR1H3	10062	broad.mit.edu	37	chr11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtccacaaaagcggaaaaAggggccagcccccaaaatgc	15	2	10	14	2	0	0	0	0	0	0	1	1	1	1	5	3	3	0	5	3	6	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000527949.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567													G	47281984	A	G	47281984	3	3	487	1	0	0	0	0	1	0	0	0	10694	72	3	3	267	3	NR1H3	11	47281984	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	33879216	47281984	87724532	23	45128											
FNBP4	23360	broad.mit.edu	37	chr11	47755624	47755624	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttggagatggattgtctatTaatgcctagaaactcgaatt	12	14	10	5	1	1	2	0	0	1	2	2	5	1	3	1	2	2	1	1	2	5	6			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:47755624T>C	ENST00000263773.5	-	10	1651	c.1639A>G	c.(1639-1641)Aat>Gat	p.N547D	FNBP4_ENST00000534003.1_5'UTR	NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	547										NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GATTGTCTATTAATGCCTAGA	0.328													C	47755624	T	C	47755624	3	2	487	1	0	0	0	0	1	0	0	0	6016	1754	61	3	1446	3	FNBP4	11	47755624	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08	473640	47755624	87250892	24	45129											
RBM4B	83759	broad.mit.edu	37	chr11	66436387	66436387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcaacagaagtagagttgAggtggctggtcacagttgtg	11	10	15	5	0	2	3	2	1	0	2	2	4	2	3	0	3	1	4	0	3	3	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:66436387A>G	ENST00000525754.1	-	2	1456	c.788T>C	c.(787-789)cTc>cCc	p.L263P	RBM4B_ENST00000531969.1_Intron|RBM4B_ENST00000310046.4_Missense_Mutation_p.L263P			Q9BQ04	RBM4B_HUMAN	RNA binding motif protein 4B	263	Interaction with TNPO3 (By similarity).				circadian regulation of gene expression|entrainment of circadian clock by photoperiod|mRNA processing|RNA splicing	nucleolus	nucleotide binding|RNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)|urinary_tract(2)	10						AGTAGAGTTGAGGTGGCTGGT	0.562													G	66436387	A	G	66436387	3	3	487	1	0	0	0	0	1	0	0	0	13230	304	11	3	295	3	RBM4B	11	66436387	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	18680763	66436387	68570129	25	45130											
PCF11	51585	broad.mit.edu	37	chr11	82877743	82877743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaagatggaaatctggttggGaagaaaataaaaggtatgat	19	9	12	1	0	1	3	0	1	1	2	1	5	1	5	0	4	0	2	0	4	8	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr11:82877743G>A	ENST00000298281.4	+	5	2256	c.1804G>A	c.(1804-1806)Gaa>Aaa	p.E602K		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	602					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						ATCTGGTTGGGAAGAAAATAA	0.318													A	82877743	G	A	82877743	3	1	487	1	0	0	0	0	1	0	0	0	11649	1175	41	2	1822	2	PCF11	11	82877743	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	16441356	82877743	52128773	26	45131											
DBX2	440097	broad.mit.edu	37	chr12	45410365	45410365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttctttggaattccGccatttcatcctcctgttct	4	20	4	13	1	3	0	1	0	2	0	7	1	7	1	5	1	0	1	5	1	1	7			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr12:45410365G>A	ENST00000332700.6	-	4	895	c.724C>T	c.(724-726)Cgg>Tgg	p.R242W		NM_001004329.2	NP_001004329.2	Q6ZNG2	DBX2_HUMAN	developing brain homeobox 2	242						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	22	Lung SC(27;0.192)	Lung NSC(34;0.142)		GBM - Glioblastoma multiforme(48;0.0515)		TTGGAATTCCGCCATTTCATC	0.403													A	45410365	G	A	45410365	3	1	487	1	0	0	0	0	1	0	0	0	4294	1086	38	1	299	1	DBX2	12	45410365	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08		45410365	88441530	27	45132											
RNF17	56163	broad.mit.edu	37	chr13	25428134	25428134	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgacataatcagtgaacaGaaagtgtctgaatttcagga	15	10	10	6	0	3	4	2	3	1	1	3	5	3	5	0	1	1	1	0	1	4	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:25428134G>A	ENST00000255324.5	+	25	3514	c.3462G>A	c.(3460-3462)caG>caA	p.Q1154Q	RNF17_ENST00000381921.1_Silent_p.Q1154Q|RNF17_ENST00000339524.3_Silent_p.Q206Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1154					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TCAGTGAACAGAAAGTGTCTG	0.403													A	25428134	G	A	25428134	2	1	487	1	0	0	0	0	0	0	0	1	13552	933	33	2		2	RNF17	13	25428134	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		25428134	89741744	28	45133											
CCDC70	83446	broad.mit.edu	37	chr13	52439604	52439604	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcttccggtccctggcGgcatcctctcccagtattcg	3	11	10	17	3	1	0	0	0	1	0	6	0	4	0	5	3	1	3	5	3	1	3	rs112168960		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr13:52439604G>A	ENST00000242819.4	+	2	386	c.90G>A	c.(88-90)gcG>gcA	p.A30A		NM_031290.2	NP_112580.2	Q6NSX1	CCD70_HUMAN	coiled-coil domain containing 70	30						extracellular region|plasma membrane		p.A30A(1)		breast(1)|large_intestine(4)|lung(7)|skin(2)|urinary_tract(1)	15		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.0107)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;2.4e-08)		GGTCCCTGGCGGCATCCTCTC	0.507													A	52439604	G	A	52439604	2	1	487	1	0	0	0	0	0	0	0	1	2871	1103	39	1		1	CCDC70	13	52439604	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08	27011470	52439604	62730274	29	45134											
CDKN3	1033	broad.mit.edu	37	chr14	54884631	54884631	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaagccatagacagcctgCgagacctaagaggatccggg	13	4	13	11	2	0	3	0	0	0	3	1	5	1	4	4	2	4	1	4	2	3	2			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:54884631C>T	ENST00000556102.2	+	7	580	c.514C>T	c.(514-516)Cga>Tga	p.R172*	CDKN3_ENST00000335183.6_Nonsense_Mutation_p.R172*|CDKN3_ENST00000458126.2_Nonsense_Mutation_p.R171*|CDKN3_ENST00000543789.2_3'UTR|CDKN3_ENST00000442975.2_Nonsense_Mutation_p.R132*|CDKN3_ENST00000556305.1_3'UTR|CDKN3_ENST00000395577.2_Nonsense_Mutation_p.R126*			Q16667	CDKN3_HUMAN	cyclin-dependent kinase inhibitor 3	172					cell cycle arrest|G1/S transition of mitotic cell cycle|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	perinuclear region of cytoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(2)|stomach(1)	3						AGACAGCCTGCGAGACCTAAG	0.458													T	54884631	C	T	54884631	4	4	487	1	0	0	0	0	0	1	0	0	3197	760	27	1	540	1	CDKN3	14	54884631	Nonsense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		54884631	52464909	30	45135											
CLMN	79789	broad.mit.edu	37	chr14	95670323	95670323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tccatcctgcctcaatgattCctttgccactcttgggctcc	5	14	6	16	0	2	1	1	1	1	0	6	1	6	1	6	1	2	1	6	1	1	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr14:95670323C>T	ENST00000298912.4	-	9	1476	c.1363G>A	c.(1363-1365)Gaa>Aaa	p.E455K		NM_024734.3	NP_079010.2	Q96JQ2	CLMN_HUMAN	calmin (calponin-like, transmembrane)	455						integral to membrane	actin binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(17)|prostate(3)|skin(3)	44				Epithelial(152;0.193)		CTCAATGATTCCTTTGCCACT	0.468													T	95670323	C	T	95670323	3	4	487	1	0	0	0	0	1	0	0	0	3573	864	30	2	1665	2	CLMN	14	95670323	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	40785692	95670323	11679217	31	45136											
HDC	3067	broad.mit.edu	37	chr15	50534698	50534698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgttgcaactgagggagCgcaccgtcttcttcttagtc	7	12	10	12	2	3	1	0	1	3	0	4	2	3	2	1	1	3	3	1	1	2	4			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr15:50534698C>T	ENST00000267845.3	-	12	2150	c.1748G>A	c.(1747-1749)cGc>cAc	p.R583H	HDC_ENST00000543581.1_Missense_Mutation_p.R550H	NM_002112.3	NP_002103.2	P19113	DCHS_HUMAN	histidine decarboxylase	583					catecholamine biosynthetic process|histidine metabolic process		histidine decarboxylase activity	p.R583L(1)		breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		all_lung(180;0.0138)		all cancers(107;1.12e-06)|GBM - Glioblastoma multiforme(94;9.95e-05)	L-Histidine(DB00117)|Pyridoxal Phosphate(DB00114)	ACTGAGGGAGCGCACCGTCTT	0.542													T	50534698	C	T	50534698	3	4	487	1	0	0	0	0	1	0	0	0	7070	768	27	1	244	1	HDC	15	50534698	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		50534698	51996694	32	45137											
GGT6	124975	broad.mit.edu	37	chr17	4463042	4463042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggttccgggcagccCgccagccttgttcctgcaga	5	7	13	16	2	0	1	0	0	0	1	2	1	2	1	6	3	3	4	6	3	0	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:4463042C>T	ENST00000301395.3	-	2	213	c.154G>A	c.(154-156)Ggg>Agg	p.G52R	GGT6_ENST00000574154.1_Missense_Mutation_p.G52R|GGT6_ENST00000381550.3_Missense_Mutation_p.G52R|GGT6_ENST00000573591.1_5'UTR	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	52					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity	p.G52W(1)		endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CCGGGCAGCCCGCCAGCCTTG	0.652													T	4463042	C	T	4463042	3	4	487	1	0	0	0	0	1	0	0	0	6419	652	23	1	1339	1	GGT6	17	4463042	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		4463042	76732168	33	45138											
DNAH2	146754	broad.mit.edu	37	chr17	7683487	7683487	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttccaggctatgctggccGcacagagcttcccgaaaatc	9	10	9	13	2	0	1	0	0	0	1	3	2	2	1	3	2	2	4	3	2	3	4	rs147216751		TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:7683487G>A	ENST00000572933.1	+	37	7195	c.5735G>A	c.(5734-5736)cGc>cAc	p.R1912H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R1912H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1912	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TATGCTGGCCGCACAGAGCTT	0.463													A	7683487	G	A	7683487	3	1	487	1	0	0	0	0	1	0	0	0	4641	1087	38	1	5877	1	DNAH2	17	7683487	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	3220445	7683487	73511723	34	45139											
KRT35	3886	broad.mit.edu	37	chr17	39635168	39635168	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcatctcctccagaactCggttcaggtcaacaggtggg	9	9	10	13	1	4	1	3	0	1	1	7	1	5	1	3	4	2	1	3	4	2	1			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:39635168C>T	ENST00000246639.2	-	4	833	c.701G>A	c.(700-702)cGa>cAa	p.R234Q	KRT35_ENST00000393989.1_Missense_Mutation_p.R264Q			Q92764	KRT35_HUMAN	keratin 35	264	Coil 1B.|Rod.				anatomical structure morphogenesis	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29		Breast(137;0.000286)				CTCCAGAACTCGGTTCAGGTC	0.552													T	39635168	C	T	39635168	3	4	487	1	0	0	0	0	1	0	0	0	8530	884	31	1	592	1	KRT35	17	39635168	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	31951681	39635168	41560042	35	45140											
STAT5B	6777	broad.mit.edu	37	chr17	40384082	40384082	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgggaaaatgctggccatAtaacgcttgcatctgatgaa	14	10	10	7	1	1	2	0	2	1	0	1	3	1	3	1	2	3	3	1	2	6	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:40384082A>T	ENST00000293328.3	-	2	232	c.64T>A	c.(64-66)Tat>Aat	p.Y22N		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	22					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TGCTGGCCATATAACGCTTGC	0.443													T	40384082	A	T	40384082	3	4	487	1	0	0	0	0	1	0	0	0	15365	449	16	5	2371	5	STAT5B	17	40384082	Missense_Mutation	SNP	A	TCGA-FG-8186-01A-11D-2253-08	748914	40384082	40811128	36	45141											
DDX5	1655	broad.mit.edu	37	chr17	62498337	62498337	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accatggatacccatggcagGccacctaagttaaaagacaa	16	6	8	11	0	0	1	0	0	0	1	0	2	0	2	4	3	1	2	4	3	5	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr17:62498337G>A	ENST00000225792.5	-	10	1500	c.1099C>T	c.(1099-1101)Cct>Tct	p.P367S	DDX5_ENST00000578804.1_Missense_Mutation_p.P367S|DDX5_ENST00000450599.2_Missense_Mutation_p.P288S	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	367	Helicase C-terminal.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			CCCATGGCAGGCCACCTAAGT	0.398			T	ETV4	prostate								A	62498337	G	A	62498337	3	1	487	1	0	0	0	0	1	0	0	0	4401	1203	42	2	761	2	DDX5	17	62498337	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	22114255	62498337	18696873	37	45142											
NOL4	8715	broad.mit.edu	37	chr18	31538334	31538334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctcagctcctcggtctaCactctcatttttgccagagt	6	14	7	14	1	3	1	2	0	2	1	7	1	5	1	3	1	3	1	3	1	1	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr18:31538334C>T	ENST00000261592.5	-	7	1402	c.1105G>A	c.(1105-1107)Gta>Ata	p.V369I	NOL4_ENST00000535475.1_Missense_Mutation_p.V214I|NOL4_ENST00000589544.1_Missense_Mutation_p.V369I|NOL4_ENST00000535384.1_Missense_Mutation_p.V84I|NOL4_ENST00000538587.1_Missense_Mutation_p.V295I|NOL4_ENST00000269185.4_Missense_Mutation_p.V255I	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	369						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CCTCGGTCTACACTCTCATTT	0.448													T	31538334	C	T	31538334	3	4	487	1	0	0	0	0	1	0	0	0	10600	478	17	2	831	2	NOL4	18	31538334	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08		31538334	46538914	38	45143											
PNMAL2	57469	broad.mit.edu	37	chr19	46998156	46998156	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcggcctcactcctcgcGggagcagacggccgtcctcc	4	7	11	19	5	1	1	1	0	0	1	7	2	5	2	6	3	1	1	6	3	0	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:46998156G>A	ENST00000599531.1	-	1	1599	c.567C>T	c.(565-567)ccC>ccT	p.P189P	PNMAL2_ENST00000377655.2_Silent_p.P189P|PNMAL2_ENST00000594749.1_Intron|AC011484.1_ENST00000377652.3_Silent_p.A89A	NM_020709.1	NP_065760.1	Q9ULN7	PNML2_HUMAN	paraneoplastic Ma antigen family-like 2	189										central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(4)	8		Ovarian(192;0.00965)|all_neural(266;0.0459)		OV - Ovarian serous cystadenocarcinoma(262;0.000322)|all cancers(93;0.00233)|GBM - Glioblastoma multiforme(486;0.0421)|Epithelial(262;0.0427)		CACTCCTCGCGGGAGCAGACG	0.647													A	46998156	G	A	46998156	2	1	487	1	0	0	0	0	0	0	0	1	12235	1103	39	1		1	PNMAL2	19	46998156	Silent	SNP	G	TCGA-FG-8186-01A-11D-2253-08		46998156	12130827	39	45144											
BIRC8	112401	broad.mit.edu	37	chr19	53793157	53793157	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcattttctgtagtgtctttCtgagcgctcactagatctgc	6	17	8	10	1	6	2	2	1	4	1	6	2	6	2	0	0	2	2	0	0	2	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chr19:53793157C>T	ENST00000426466.1	-	1	1718	c.471G>A	c.(469-471)caG>caA	p.Q157Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	157					apoptosis		zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		TAGTGTCTTTCTGAGCGCTCA	0.408													T	53793157	C	T	53793157	2	4	487	1	0	0	0	0	0	0	0	1	1446	912	32	2		2	BIRC8	19	53793157	Silent	SNP	C	TCGA-FG-8186-01A-11D-2253-08	6795001	53793157	5335826	40	45145											
CXorf22	170063	broad.mit.edu	37	chrX	35966455	35966455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttaaggcagaataccacgGccaattacccatcctcattt	13	11	5	12	1	1	1	1	0	0	1	2	1	2	1	4	2	2	1	4	2	5	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35966455G>A	ENST00000297866.5	+	4	608	c.542G>A	c.(541-543)gGc>gAc	p.G181D		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	181										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						GAATACCACGGCCAATTACCC	0.413													A	35966455	G	A	35966455	3	1	487	1	0	0	0	0	1	0	0	0	4135	1203	42	2	556	2	CXorf22	23	35966455	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08		35966455	119304105	41	45146											
CXorf22	170063	broad.mit.edu	37	chrX	35993797	35993797	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcattacaggtctttcaCctttacagtgaacaatgtac	11	13	7	10	0	2	1	1	1	1	0	2	1	2	1	1	1	5	3	1	1	5	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:35993797C>A	ENST00000297866.5	+	15	2546	c.2480C>A	c.(2479-2481)aCc>aAc	p.T827N		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	827								p.T827N(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						AGGTCTTTCACCTTTACAGTG	0.383													A	35993797	C	A	35993797	3	1	487	1	0	0	0	0	1	0	0	0	4135	507	18	4	2538	4	CXorf22	23	35993797	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	27342	35993797	119276763	42	45147											
FAM47C	442444	broad.mit.edu	37	chrX	37027156	37027156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgtcccatctccgcccaCagcctcccaagactcaggtg	8	7	9	17	1	2	1	1	0	1	1	5	2	4	1	5	1	1	0	5	1	1	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:37027156C>G	ENST00000358047.3	+	1	725	c.673C>G	c.(673-675)Cag>Gag	p.Q225E		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	225										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						TCTCCGCCCACAGCCTCCCAA	0.647													G	37027156	C	G	37027156	3	3	487	1	0	0	0	0	1	0	0	0	5622	479	17	4	675	4	FAM47C	23	37027156	Missense_Mutation	SNP	C	TCGA-FG-8186-01A-11D-2253-08	1033359	37027156	118243404	43	45148											
DDX3X	1654	broad.mit.edu	37	chrX	41202025	41202025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaacactgggattaattTtgagaaatacgatgacattc	15	11	9	6	1	0	2	0	2	0	1	1	5	0	3	0	2	2	1	0	2	4	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:41202025T>C	ENST00000399959.2	+	6	1334	c.479T>C	c.(478-480)tTt>tCt	p.F160S	DDX3X_ENST00000542215.1_Missense_Mutation_p.F204S|DDX3X_ENST00000457138.2_Missense_Mutation_p.F144S|DDX3X_ENST00000478993.1_3'UTR|DDX3X_ENST00000441189.2_Intron	NM_001193416.1|NM_001193417.1|NM_001356.3	NP_001180345.1|NP_001180346.1|NP_001347.3	O00571	DDX3X_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, X-linked	160					interspecies interaction between organisms	cytoplasm|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|DNA binding|protein binding|RNA binding			NS(3)|breast(8)|central_nervous_system(36)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84						GGGATTAATTTTGAGAAATAC	0.368										HNSCC(61;0.18)			C	41202025	T	C	41202025	3	2	487	1	0	0	0	0	1	0	0	0	4392	1841	64	3	501	3	DDX3X	23	41202025	Missense_Mutation	SNP	T	TCGA-FG-8186-01A-11D-2253-08	4174869	41202025	114068535	44	45149											
SSX5	6758	broad.mit.edu	37	chrX	48053622	48053622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctggaagtctgcgacccGtttattacgcatgaaaggtg	9	10	11	11	3	1	1	0	1	1	0	1	3	1	2	3	2	2	2	3	2	4	3			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:48053622G>A	ENST00000311798.1	-	5	398	c.346C>T	c.(346-348)Cgg>Tgg	p.R116W	SSX5_ENST00000347757.1_Missense_Mutation_p.R75W|SSX5_ENST00000376923.1_Missense_Mutation_p.R75W	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	75					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TCTGCGACCCGTTTATTACGC	0.488													A	48053622	G	A	48053622	3	1	487	1	0	0	0	0	1	0	0	0	15304	1144	40	1	359	1	SSX5	23	48053622	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	6851597	48053622	107216938	45	45150											
GRIA3	2892	broad.mit.edu	37	chrX	122598965	122598965	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaggctcagcattaaggTgggtggaataatataacaat	16	10	10	5	0	1	0	1	0	0	0	1	1	1	1	0	4	2	2	0	4	8	5			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:122598965T>A	ENST00000264357.5	+	13	2616		c.e13+2		GRIA3_ENST00000542149.1_Splice_Site|GRIA3_ENST00000371251.1_Splice_Site|AL356213.1_ENST00000577653.1_RNA|GRIA3_ENST00000371256.5_Splice_Site	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3						glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	AGCATTAAGGTGGGTGGAATA	0.393													A	122598965	T	A	122598965	5	1	487	1	0	0	0	0	0	0	1	0	6824	1710	59	5	2376	5	GRIA3	23	122598965	Splice_Site	SNP	T	TCGA-FG-8186-01A-11D-2253-08	74545343	122598965	32671595	46	45151											
ATP2B3	492	broad.mit.edu	37	chrX	152807342	152807342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagctcctccaggtccccGtggctgcgctggtggtgggg	2	8	18	13	2	0	0	0	0	0	0	3	0	3	0	4	7	2	4	4	7	0	0			TCGA-FG-8186-01A-11D-2253-08	TCGA-FG-8186-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	729f5374-cda6-4f84-8843-8d638ede22d1	033c9e3a-1498-4e9d-bbb1-2ab70851c8b8	g.chrX:152807342G>A	ENST00000370186.1	+	4	948	c.622G>A	c.(622-624)Gtg>Atg	p.V208M	ATP2B3_ENST00000393842.1_Missense_Mutation_p.V208M|ATP2B3_ENST00000370181.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000263519.4_Missense_Mutation_p.V208M|ATP2B3_ENST00000349466.2_Missense_Mutation_p.V208M|ATP2B3_ENST00000359149.3_Missense_Mutation_p.V208M			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	208					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGTCCCCGTGGCTGCGCT	0.622													A	152807342	G	A	152807342	3	1	487	1	0	0	0	0	1	0	0	0	1146	1145	40	1	632	1	ATP2B3	23	152807342	Missense_Mutation	SNP	G	TCGA-FG-8186-01A-11D-2253-08	30208377	152807342	2463218	47	45152											
KCNQ4	9132	broad.mit.edu	37	chr1	41283890	41283890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcgtccgggtctggtccGccggatgctgctgccgctac	4	9	13	15	5	1	0	0	0	1	0	4	1	3	1	4	3	4	3	4	3	1	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:41283890G>A	ENST00000347132.5	+	3	542	c.460G>A	c.(460-462)Gcc>Acc	p.A154T	KCNQ4_ENST00000509682.2_Missense_Mutation_p.A154T	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	154					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			GGTCTGGTCCGCCGGATGCTG	0.612													A	41283890	G	A	41283890	3	1	488	1	0	0	0	0	1	0	0	0	8143	1087	38	1	470	1	KCNQ4	1	41283890	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		41283890	207966731	1	45153											
DMBX1	127343	broad.mit.edu	37	chr1	46977833	46977833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaggagcaattccgccaGcacatggcggccaccaacaa	12	4	10	15	2	0	0	0	0	0	0	1	1	1	1	4	3	4	3	4	3	3	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:46977833G>A	ENST00000371956.4	+	4	831	c.816G>A	c.(814-816)caG>caA	p.Q272Q	DMBX1_ENST00000360032.3_Silent_p.Q267Q	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	272					brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					AATTCCGCCAGCACATGGCGG	0.672													A	46977833	G	A	46977833	2	1	488	1	0	0	0	0	0	0	0	1	4617	962	34	2		2	DMBX1	1	46977833	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	5693943	46977833	202272788	2	45154											
FAM89A	375061	broad.mit.edu	37	chr1	231155648	231155648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgctgctggagagggaGgagacaggcagtgacaagtc	11	5	17	8	1	0	3	0	1	0	2	2	6	0	4	0	4	1	3	0	4	1	0			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr1:231155648G>A	ENST00000366654.4	-	2	550	c.516C>T	c.(514-516)tcC>tcT	p.S172S	MIR1182_ENST00000408363.1_RNA|FAM89A_ENST00000494111.1_5'UTR	NM_198552.2	NP_940954.1	Q96GI7	FA89A_HUMAN	family with sequence similarity 89, member A	172										endometrium(1)|upper_aerodigestive_tract(1)	2	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)				TGGAGAGGGAGGAGACAGGCA	0.567													A	231155648	G	A	231155648	2	1	488	1	0	0	0	0	0	0	0	1	5696	987	35	2		2	FAM89A	1	231155648	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	184177815	231155648	18094973	3	45155											
HOXD3	3232	broad.mit.edu	37	chr2	177034190	177034190	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactcagagcagcagccAccacaaccccctcctccacc	11	4	5	21	0	1	2	1	1	0	1	3	2	3	2	7	0	5	2	7	0	2	0			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:177034190A>G	ENST00000468418.3	+	3	2438	c.348A>G	c.(346-348)ccA>ccG	p.P116P	HOXD3_ENST00000249440.3_Silent_p.P116P|HOXD3_ENST00000410016.1_Silent_p.P116P			P31249	HXD3_HUMAN	homeobox D3	116	Poly-Pro.				anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		AGCAGCAGccaccacaacccc	0.642													G	177034190	A	G	177034190	2	3	488	1	0	0	0	0	0	0	0	1	7378	146	6	3		3	HOXD3	2	177034190	Silent	SNP	A	TCGA-FG-8187-01A-11D-2253-08		177034190	66165183	4	45156											
ZDBF2	57683	broad.mit.edu	37	chr2	207175936	207175936	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcattagaaagtatatttcGaaatactctgtctttttacg	13	17	5	6	2	3	1	1	0	2	1	4	2	3	1	0	0	2	1	0	0	7	8			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:207175936G>A	ENST00000374423.3	+	5	7070	c.6684G>A	c.(6682-6684)tcG>tcA	p.S2228S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	2228							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						AGTATATTTCGAAATACTCTG	0.363													A	207175936	G	A	207175936	2	1	488	1	0	0	0	0	0	0	0	1	17700	1045	37	1		1	ZDBF2	2	207175936	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	30141746	207175936	36023437	5	45157											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	488	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08	1937176	209113112	34086261	6	45158											
ZBTB20	26137	broad.mit.edu	37	chr3	114058129	114058129	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggaggcgcatgtgcacgTtgagggagctcttctgggtg	5	10	19	7	2	2	1	0	1	2	0	2	3	2	3	0	5	2	4	0	5	0	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr3:114058129T>C	ENST00000462705.1	-	12	2551	c.1730A>G	c.(1729-1731)aAc>aGc	p.N577S	ZBTB20_ENST00000357258.3_Missense_Mutation_p.N577S|ZBTB20_ENST00000474710.1_Missense_Mutation_p.N650S|ZBTB20_ENST00000481632.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000471418.1_Missense_Mutation_p.N577S|ZBTB20_ENST00000393785.2_Missense_Mutation_p.N577S|ZBTB20_ENST00000464560.1_Missense_Mutation_p.N577S	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CATGTGCACGTTGAGGGAGCT	0.527													C	114058129	T	C	114058129	3	2	488	1	0	0	0	0	1	0	0	0	17630	1725	60	3	280	3	ZBTB20	3	114058129	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		114058129	83964301	7	45159											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	488	1	0	0	0	0	1	0	0	0	11990	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-FG-8187-01A-11D-2253-08	64893956	178952085	19070345	8	45160											
FAT1	2195	broad.mit.edu	37	chr4	187628151	187628151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttctaaccacatgatgacgGttccttctggaagatcctct	9	13	7	12	1	3	3	0	2	3	1	5	4	5	4	3	2	1	1	3	2	2	4			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr4:187628151G>A	ENST00000441802.2	-	2	3040	c.2831C>T	c.(2830-2832)aCc>aTc	p.T944I		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	944	Cadherin 8.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CATGATGACGGTTCCTTCTGG	0.453										HNSCC(5;0.00058)			A	187628151	G	A	187628151	3	1	488	1	0	0	0	0	1	0	0	0	5738	1261	44	2	11039	2	FAT1	4	187628151	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		187628151	3526125	9	45161											
ZNF165	7718	broad.mit.edu	37	chr6	28053480	28053480	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgcctccgggagctctgCtgtcagtggctgaagccaga	7	7	14	13	2	2	2	1	1	1	1	3	3	3	3	4	2	4	3	4	2	1	0	rs140146788		TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr6:28053480C>T	ENST00000377325.1	+	2	778	c.222C>T	c.(220-222)tgC>tgT	p.C74C		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	74	SCAN box.				viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						GGGAGCTCTGCTGTCAGTGGC	0.562													T	28053480	C	T	28053480	2	4	488	1	0	0	0	0	0	0	0	1	17841	805	28	2		2	ZNF165	6	28053480	Silent	SNP	C	TCGA-FG-8187-01A-11D-2253-08		28053480	143061587	10	45162											
PIK3CG	5294	broad.mit.edu	37	chr7	106520010	106520010	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagaaaaaaccactatggcTtgagtttaaatgtgccgatc	15	10	8	8	1	0	2	0	1	0	1	1	3	0	2	2	1	2	2	2	1	7	4			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr7:106520010T>C	ENST00000359195.3	+	6	2748	c.2438T>C	c.(2437-2439)cTt>cCt	p.L813P	PIK3CG_ENST00000440650.2_Missense_Mutation_p.L813P|PIK3CG_ENST00000496166.1_Missense_Mutation_p.L813P	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	813					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						CCACTATGGCTTGAGTTTAAA	0.368													C	106520010	T	C	106520010	3	2	488	1	0	0	0	0	1	0	0	0	11993	1609	56	3	2456	3	PIK3CG	7	106520010	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		106520010	52618653	11	45163											
XKR6	286046	broad.mit.edu	37	chr8	10755970	10755970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaacacagtgctggcaccGcataggagtcagtggtctcc	10	7	11	13	1	2	0	1	0	1	0	3	1	2	1	2	3	2	3	2	3	2	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr8:10755970G>A	ENST00000416569.2	-	3	1444	c.1418C>T	c.(1417-1419)gCg>gTg	p.A473V	XKR6_ENST00000304437.2_Missense_Mutation_p.A194V	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	473						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		TGCTGGCACCGCATAGGAGTC	0.473													A	10755970	G	A	10755970	3	1	488	1	0	0	0	0	1	0	0	0	17537	1087	38	1	511	1	XKR6	8	10755970	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		10755970	135608052	12	45164											
CERCAM	51148	broad.mit.edu	37	chr9	131186792	131186792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccttccttgcatccctgcGggctgaaggggcagaccagc	7	7	12	15	1	0	2	0	1	0	1	2	2	2	2	4	3	3	3	4	3	1	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr9:131186792G>A	ENST00000372842.1	+	6	3575	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	CERCAM_ENST00000372838.4_Missense_Mutation_p.R222Q			Q5T4B2	GT253_HUMAN	cerebral endothelial cell adhesion molecule	222					cellular component movement|leukocyte cell-cell adhesion|lipopolysaccharide biosynthetic process	endoplasmic reticulum lumen|plasma membrane		p.R144L(1)|p.R222L(1)		endometrium(2)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|pancreas(2)	20						GCATCCCTGCGGGCTGAAGGG	0.617													A	131186792	G	A	131186792	3	1	488	1	0	0	0	0	1	0	0	0	3296	1116	39	1	683	1	CERCAM	9	131186792	Missense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		131186792	10026639	13	45165											
LARP4B	23185	broad.mit.edu	37	chr10	866757	866757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgtaaacttctcctcccTtttcttccggtagccaaagg	8	13	6	14	1	2	0	0	0	2	0	5	0	4	0	4	2	2	2	4	2	4	6			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr10:866757T>C	ENST00000316157.3	-	13	1553	c.1513A>G	c.(1513-1515)Agg>Ggg	p.R505G		NM_015155.1	NP_055970.1	Q92615	LAR4B_HUMAN	La ribonucleoprotein domain family, member 4B	505							nucleotide binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	38						TTCTCCTCCCTTTTCTTCCGG	0.348													C	866757	T	C	866757	3	2	488	1	0	0	0	0	1	0	0	0	8690	1608	56	3	723	3	LARP4B	10	866757	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		866757	134667990	14	45166											
CUBN	8029	broad.mit.edu	37	chr10	16992025	16992025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcgcgtcttcgtggccGccatccaaaatttctacaaa	10	9	10	12	4	2	0	0	0	2	0	4	0	3	0	3	3	1	0	3	3	4	3			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr10:16992025G>A	ENST00000377833.4	-	34	5120	c.5055C>T	c.(5053-5055)ggC>ggT	p.G1685G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1685	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	p.G1685G(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	CTTCGTGGCCGCCATCCAAAA	0.448													A	16992025	G	A	16992025	2	1	488	1	0	0	0	0	0	0	0	1	4084	1074	38	1		1	CUBN	10	16992025	Silent	SNP	G	TCGA-FG-8187-01A-11D-2253-08	16125268	16992025	118542722	15	45167											
OR8K1	390157	broad.mit.edu	37	chr11	56114203	56114203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctacatgtttattctagtggCcattctcagaatgaactcaa	12	14	6	9	0	3	2	2	1	2	1	4	2	3	2	1	1	2	1	1	1	6	6			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr11:56114203C>T	ENST00000279783.2	+	1	783	c.689C>T	c.(688-690)gCc>gTc	p.A230V		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					ATTCTAGTGGCCATTCTCAGA	0.383										HNSCC(65;0.19)			T	56114203	C	T	56114203	3	4	488	1	0	0	0	0	1	0	0	0	11319	739	26	2	691	2	OR8K1	11	56114203	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		56114203	78892313	16	45168											
ABCG4	64137	broad.mit.edu	37	chr11	119025013	119025013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctggttaatggaaggccaCgggagctgaggaccttccgc	8	8	14	11	2	0	1	0	1	0	0	2	4	2	4	4	5	1	2	4	5	2	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr11:119025013C>T	ENST00000307417.3	+	4	764	c.400C>T	c.(400-402)Cgg>Tgg	p.R134W	ABCG4_ENST00000449422.2_Missense_Mutation_p.R134W|ABCG4_ENST00000531739.1_Missense_Mutation_p.R134W	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	134	ABC transporter.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TGGAAGGCCACGGGAGCTGAG	0.557													T	119025013	C	T	119025013	3	4	488	1	0	0	0	0	1	0	0	0	70	527	19	1	410	1	ABCG4	11	119025013	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08	62910810	119025013	15981503	17	45169											
GRIN2B	2904	broad.mit.edu	37	chr12	13906506	13906506	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacgatccacgtgtagccaTagccagtcagccctactgag	10	7	10	14	2	1	1	1	1	0	0	2	2	2	1	4	0	4	2	4	0	3	3			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr12:13906506T>C	ENST00000609686.1	-	3	964	c.755A>G	c.(754-756)tAt>tGt	p.Y252C		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTGTAGCCATAGCCAGTCAG	0.512													C	13906506	T	C	13906506	3	2	488	1	0	0	0	0	1	0	0	0	6835	1406	49	3	3743	3	GRIN2B	12	13906506	Missense_Mutation	SNP	T	TCGA-FG-8187-01A-11D-2253-08		13906506	119945389	18	45170											
TMTC4	84899	broad.mit.edu	37	chr13	101257337	101257339	+	In_Frame_Del	DEL	AGG	AGG	-																															tgccgtggggtcaagctgcaAggagatttcatagtgtttct																										TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr13:101257337_101257339delAGG	ENST00000342624.5	-	19	2450_2452	c.2192_2194delCCT	c.(2191-2196)tccttg>ttg	p.S731del	TMTC4_ENST00000376234.3_In_Frame_Del_p.S712del|TMTC4_ENST00000328767.5_In_Frame_Del_p.S601del	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	712						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TCAAGCTGCAAGGAGATTTCATA	0.438													-	101257339	AGG	-	101257337	7	5	488	1	0	1	0	1	0	0	0	0	16363	69	3	0	92	0	TMTC4	13	101257337	In_Frame_Del	DEL	AGG	TCGA-FG-8187-01A-11D-2253-08		101257337	13912541	19	45171											
TEKT1	83659	broad.mit.edu	37	chr17	6703471	6703471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ataaatggtgttctctttgaCctggatctcctcctgcaggg	7	14	10	10	0	2	1	0	1	2	0	5	2	3	2	3	3	1	2	3	3	2	3			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr17:6703471C>T	ENST00000338694.2	-	8	1261	c.1132G>A	c.(1132-1134)Gtc>Atc	p.V378I	TEKT1_ENST00000535086.1_Missense_Mutation_p.V232I	NM_053285.1	NP_444515.1	Q969V4	TEKT1_HUMAN	tektin 1	378					microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20		Myeloproliferative disorder(207;0.0255)				TTCTCTTTGACCTGGATCTCC	0.527													T	6703471	C	T	6703471	3	4	488	1	0	0	0	0	1	0	0	0	15852	507	18	2	128	2	TEKT1	17	6703471	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		6703471	74491739	20	45172											
PBX4	80714	broad.mit.edu	37	chr19	19672911	19672911	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggggggtggccccctGccagctaccctgggcctgaa	5	7	16	13	0	0	1	0	1	0	0	0	1	0	1	5	6	3	2	5	6	2	2			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr19:19672911G>A	ENST00000251203.9	-	8	1334	c.1048C>T	c.(1048-1050)Cag>Tag	p.Q350*		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTGGCCCCCTGCCAGCTACCC	0.597													A	19672911	G	A	19672911	4	1	488	1	0	0	0	0	0	1	0	0	11571	1328	46	2	80	2	PBX4	19	19672911	Nonsense_Mutation	SNP	G	TCGA-FG-8187-01A-11D-2253-08		19672911	39456072	21	45173											
RIPK4	54101	broad.mit.edu	37	chr21	43166845	43166845	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtatcaggtggctgcaggCgcgcggccgggctctgcaca	5	6	17	13	5	2	0	1	0	1	0	2	0	2	0	1	5	2	5	1	5	1	1			TCGA-FG-8187-01A-11D-2253-08	TCGA-FG-8187-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03ef1338-e963-4cc2-a596-27334a685da3	ae886eb1-4d03-4bb3-b9b4-ad379272ab7a	g.chr21:43166845C>T	ENST00000352483.2	-	5	824	c.760G>A	c.(760-762)Gcc>Acc	p.A254T	RIPK4_ENST00000544709.1_Missense_Mutation_p.A191T|RIPK4_ENST00000542057.1_Missense_Mutation_p.A191T|RIPK4_ENST00000332512.3_Missense_Mutation_p.A254T			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	254						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						TGGCTGCAGGCGCGCGGCCGG	0.672													T	43166845	C	T	43166845	3	4	488	1	0	0	0	0	1	0	0	0	13474	768	27	1	1610	1	RIPK4	21	43166845	Missense_Mutation	SNP	C	TCGA-FG-8187-01A-11D-2253-08		43166845	4963050	22	45174											
VPS13D	55187	broad.mit.edu	37	chr1	12461735	12461735	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaagctgctaagtttcttTggctacgatcaagcagaatc	11	12	8	10	1	3	1	2	0	1	1	4	2	3	1	0	1	4	5	0	1	5	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:12461735T>C	ENST00000358136.3	+	62	11989	c.11859T>C	c.(11857-11859)ttT>ttC	p.F3953F	VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000356315.4_Silent_p.F3928F	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3952					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TAAGTTTCTTTGGCTACGATC	0.373													C	12461735	T	C	12461735	2	2	489	1	0	0	0	0	0	0	0	1	17294	1809	63	3		3	VPS13D	1	12461735	Silent	SNP	T	TCGA-FG-8188-01A-11D-2253-08		12461735	236788886	1	45175											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17944985	17944987	+	In_Frame_Del	DEL	CCT	CCT	-																															ccacgccgtcatccgctgtcCctcctcctcctcctcctctg																										TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:17944985_17944987delCCT	ENST00000375408.3	+	1	175_177	c.137_139delCCT	c.(136-141)ccctcc>ccc	p.S52del	ARHGEF10L_ENST00000434513.1_Intron|ARHGEF10L_ENST00000375415.1_Intron|ARHGEF10L_ENST00000167825.4_In_Frame_Del_p.S52del|ARHGEF10L_ENST00000452522.1_Intron|ARHGEF10L_ENST00000375420.3_Intron|ARHGEF10L_ENST00000469726.1_Intron|ARHGEF10L_ENST00000361221.3_Intron			Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	0					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		ATCCGCTGTCcctcctcctcctc	0.68													-	17944987	CCT	-	17944985	7	5	489	1	0	1	0	1	0	0	0	0	898	638	22	0		0	ARHGEF10L	1	17944985	In_Frame_Del	DEL	CCT	TCGA-FG-8188-01A-11D-2253-08	5483250	17944985	231305636	2	45176											
SF3A3	10946	broad.mit.edu	37	chr1	38435137	38435137	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagccagtagggaataggCtaaaaaagaaaaaaacaaaa	24	4	8	5	0	0	1	0	0	0	1	0	2	0	2	1	2	3	2	1	2	12	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:38435137C>A	ENST00000373019.4	-	14	2126		c.e14-1		SF3A3_ENST00000448721.2_Splice_Site	NM_006802.2	NP_006793.1	Q12874	SF3A3_HUMAN	splicing factor 3a, subunit 3, 60kDa						nuclear mRNA 3'-splice site recognition	catalytic step 2 spliceosome|nuclear speck	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(3)|prostate(2)	12	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				AGGGAATAGGCTAAAAAAGAA	0.418													A	38435137	C	A	38435137	5	1	489	1	0	0	0	0	0	0	1	0	14241	811	28	4	351	4	SF3A3	1	38435137	Splice_Site	SNP	C	TCGA-FG-8188-01A-11D-2253-08	20490152	38435137	210815484	3	45177											
COL9A2	1298	broad.mit.edu	37	chr1	40782860	40782860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcggggggaggccgtagCggcggccatggctggcggcg	3	4	23	11	6	0	0	0	0	0	0	0	1	0	1	2	9	2	3	2	9	1	1			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr1:40782860C>T	ENST00000372748.3	-	1	106	c.10G>A	c.(10-12)Gct>Act	p.A4T		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	4					axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			GAGGCCGTAGCGGCGGCCATG	0.701													T	40782860	C	T	40782860	3	4	489	1	0	0	0	0	1	0	0	0	3739	768	27	1	2187	1	COL9A2	1	40782860	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	2347723	40782860	208467761	4	45178											
PCYOX1	51449	broad.mit.edu	37	chr2	70504434	70504434	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgccattgcagcccacaaCgctgcactccttgcctatca	9	9	7	16	1	1	0	1	0	0	0	2	0	2	0	4	0	6	3	4	0	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:70504434C>T	ENST00000433351.2	+	6	1456	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	PCYOX1_ENST00000545138.1_Silent_p.N398N|PCYOX1_ENST00000505044.2_Silent_p.N399N|PCYOX1_ENST00000264441.5_3'UTR	NM_016297.3	NP_057381.3	Q9UHG3	PCYOX_HUMAN	prenylcysteine oxidase 1	476					prenylated protein catabolic process	lysosome|very-low-density lipoprotein particle	prenylcysteine oxidase activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)	15						CAGCCCACAACGCTGCACTCC	0.468													T	70504434	C	T	70504434	2	4	489	1	0	0	0	0	0	0	0	1	11684	535	19	1		1	PCYOX1	2	70504434	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		70504434	172694939	5	45179											
SLC9A2	6549	broad.mit.edu	37	chr2	103324661	103324661	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcgcttcttgccagaaCagttctccaagaaatccccc	10	8	7	16	1	2	2	0	0	2	2	4	2	3	2	5	1	2	2	5	1	3	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:103324661C>G	ENST00000233969.2	+	12	2294	c.2152C>G	c.(2152-2154)Cag>Gag	p.Q718E		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	718						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTGCCAGAACAGTTCTCCAA	0.537													G	103324661	C	G	103324661	3	3	489	1	0	0	0	0	1	0	0	0	14806	479	17	4	2198	4	SLC9A2	2	103324661	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	32820227	103324661	139874712	6	45180											
TFCP2L1	29842	broad.mit.edu	37	chr2	121997207	121997207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttcacctggtaggccaCgtcgggccatggagagcact	7	8	14	12	2	1	1	1	0	0	1	2	2	1	1	3	4	1	4	3	4	1	2	rs141932688	byFrequency	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:121997207C>T	ENST00000263707.5	-	8	884	c.787G>A	c.(787-789)Gtg>Atg	p.V263M		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	263					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					TGGTAGGCCACGTCGGGCCAT	0.632													T	121997207	C	T	121997207	3	4	489	1	0	0	0	0	1	0	0	0	15896	536	19	1	684	1	TFCP2L1	2	121997207	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	18672546	121997207	121202166	7	45181											
TTN	7273	broad.mit.edu	37	chr2	179655479	179655479	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcttgttgtgtggtagtttCttcttgagctcccgggactg	4	17	12	8	1	3	1	0	1	3	0	4	2	4	2	1	2	1	4	1	2	1	6			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr2:179655479C>G	ENST00000589042.1	-	11	1980	c.1756G>C	c.(1756-1758)Gaa>Caa	p.E586Q	TTN_ENST00000342992.6_Missense_Mutation_p.E586Q|TTN_ENST00000591111.1_Missense_Mutation_p.E586Q|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.E586Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	586							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGGTAGTTTCTTCTTGAGCT	0.423													G	179655479	C	G	179655479	3	3	489	1	0	0	0	0	1	0	0	0	16837	922	32	4	109640	4	TTN	2	179655479	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	57658272	179655479	63543894	8	45182											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	489	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	29457633	209113112	34086261	9	45183											
GRM7	2917	broad.mit.edu	37	chr3	7620372	7620372	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactccccctgggctgtgatTcctgtcttcctggcaatgtt	4	14	9	14	0	1	1	0	1	1	0	4	1	4	1	4	2	0	3	4	2	1	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:7620372T>C	ENST00000486284.1	+	8	2053	c.1779T>C	c.(1777-1779)atT>atC	p.I593I	GRM7_ENST00000389336.4_Silent_p.I593I|GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000357716.4_Silent_p.I593I|GRM7_ENST00000403881.1_Silent_p.I593I|GRM7_ENST00000402647.2_Silent_p.I593I	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	593					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	GGGCTGTGATTCCTGTCTTCC	0.552													C	7620372	T	C	7620372	2	2	489	1	0	0	0	0	0	0	0	1	6857	1771	62	3		3	GRM7	3	7620372	Silent	SNP	T	TCGA-FG-8188-01A-11D-2253-08		7620372	190402058	10	45184											
UBXN7	26043	broad.mit.edu	37	chr3	196096372	196096372	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctgaccttcctcactgTcatgataaacctgttaaatc	11	14	4	12	0	3	2	2	2	1	0	6	2	4	2	3	0	1	1	3	0	4	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr3:196096372T>A	ENST00000296328.4	-	7	700	c.626A>T	c.(625-627)gAc>gTc	p.D209V	UBXN7_ENST00000428095.1_Missense_Mutation_p.D47V|UBXN7_ENST00000535858.1_Missense_Mutation_p.D61V	NM_015562.1	NP_056377.1	O94888	UBXN7_HUMAN	UBX domain protein 7	209							protein binding			NS(1)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	18						TTCCTCACTGTCATGATAAAC	0.363													A	196096372	T	A	196096372	3	1	489	1	0	0	0	0	1	0	0	0	17020	1667	58	5	863	5	UBXN7	3	196096372	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	188476000	196096372	1926058	11	45185											
FABP2	2169	broad.mit.edu	37	chr4	120243252	120243252	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttccaagtgctgtcaaaCgccatgatttcagttgagtc	10	12	8	11	1	2	2	2	2	0	0	4	2	3	2	3	0	2	2	3	0	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr4:120243252C>T	ENST00000274024.3	-	1	293	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_000134.3	NP_000125.2	P12104	FABPI_HUMAN	fatty acid binding protein 2, intestinal	2							fatty acid binding			breast(1)|large_intestine(4)|lung(1)|ovary(1)|pancreas(1)	8						TGCTGTCAAACGCCATGATTT	0.398													T	120243252	C	T	120243252	2	4	489	1	0	0	0	0	0	0	0	1	5402	523	19	1		1	FABP2	4	120243252	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		120243252	70911024	12	45186											
PIK3R1	5295	broad.mit.edu	37	chr5	67569270	67569270	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcctgacattgccccGcctcttcttatcaagctcgt	5	12	6	18	2	3	1	1	1	2	0	5	1	4	1	6	0	2	1	6	0	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67569270G>A	ENST00000521381.1	+	3	1003	c.387G>A	c.(385-387)ccG>ccA	p.P129P	PIK3R1_ENST00000274335.5_Silent_p.P129P|PIK3R1_ENST00000396611.1_Silent_p.P129P|PIK3R1_ENST00000521657.1_Silent_p.P129P	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	129	Rho-GAP.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.?(2)|p.0?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	ACATTGCCCCGCCTCTTCTTA	0.443			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67569270	G	A	67569270	2	1	489	1	0	0	0	0	0	0	0	1	11995	1074	38	1		1	PIK3R1	5	67569270	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		67569270	113345990	13	45187											
PIK3R1	5295	broad.mit.edu	37	chr5	67591086	67591086	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagtatcgagaaattgAcaaacgtatgaacagcatta	17	9	9	6	2	0	4	0	3	0	1	1	5	0	4	0	0	4	4	0	0	6	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:67591086A>G	ENST00000521381.1	+	13	2295	c.1679A>G	c.(1678-1680)gAc>gGc	p.D560G	PIK3R1_ENST00000336483.5_Missense_Mutation_p.D290G|PIK3R1_ENST00000523872.1_Missense_Mutation_p.D197G|PIK3R1_ENST00000274335.5_Missense_Mutation_p.D560G|PIK3R1_ENST00000396611.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000521657.1_Missense_Mutation_p.D560G|PIK3R1_ENST00000320694.8_Missense_Mutation_p.D260G	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	560					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D560_S565del(1)|p.R557_K561>Q(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CGAGAAATTGACAAACGTATG	0.358			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591086	A	G	67591086	3	3	489	1	0	0	0	0	1	0	0	0	11995	275	10	3	1855	3	PIK3R1	5	67591086	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	21816	67591086	113324174	14	45188											
CRHBP	1393	broad.mit.edu	37	chr5	76264637	76264637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgtgacttttgagtatcGtcagctggagccgtacgagc	7	12	13	9	4	1	2	1	2	0	0	3	4	1	3	1	1	4	3	1	1	2	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr5:76264637G>A	ENST00000274368.4	+	7	1318	c.896G>A	c.(895-897)cGt>cAt	p.R299H	CRHBP_ENST00000514258.1_Intron	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	299					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTTGAGTATCGTCAGCTGGAG	0.458													A	76264637	G	A	76264637	3	1	489	1	0	0	0	0	1	0	0	0	3901	1145	40	1	922	1	CRHBP	5	76264637	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	8673551	76264637	104650623	15	45189											
DEFB113	245927	broad.mit.edu	37	chr6	49936551	49936551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgacattctctttttctctCtgcaacttctcttgtttttt	4	23	3	11	0	4	1	0	1	4	0	7	1	4	1	0	0	2	2	0	0	1	8			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:49936551C>T	ENST00000398718.1	-	2	87	c.88G>A	c.(88-90)Gag>Aag	p.E30K		NM_001037729.1	NP_001032818.1	Q30KQ7	DB113_HUMAN	defensin, beta 113	30					defense response to bacterium	extracellular region				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Lung NSC(77;0.042)					CTTTTTCTCTCTGCAACTTCT	0.383													T	49936551	C	T	49936551	3	4	489	1	0	0	0	0	1	0	0	0	4440	922	32	2	156	2	DEFB113	6	49936551	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		49936551	121178516	16	45190											
DEFB112	245915	broad.mit.edu	37	chr6	50011409	50011409	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttgtaggtcttgcacagTatgaaatcctaaattcacta	13	13	8	7	0	2	1	1	1	1	0	3	2	3	1	1	1	1	4	1	1	6	7			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50011409T>C	ENST00000322246.4	-	2	220	c.221A>G	c.(220-222)tAc>tGc	p.Y74C		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	74					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					TCTTGCACAGTATGAAATCCT	0.433													C	50011409	T	C	50011409	3	2	489	1	0	0	0	0	1	0	0	0	4439	1638	57	3	123	3	DEFB112	6	50011409	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	74858	50011409	121103658	17	45191											
TFAP2D	83741	broad.mit.edu	37	chr6	50696680	50696680	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgctgaggtaaagaggcGcctctccccacctgagtgcc	8	8	11	14	1	1	3	0	2	1	1	2	3	1	3	5	2	2	2	5	2	2	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:50696680G>A	ENST00000008391.3	+	4	938	c.710G>A	c.(709-711)cGc>cAc	p.R237H	TFAP2D_ENST00000492804.1_3'UTR	NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	237							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GTAAAGAGGCGCCTCTCCCCA	0.473													A	50696680	G	A	50696680	3	1	489	1	0	0	0	0	1	0	0	0	15890	1087	38	1	724	1	TFAP2D	6	50696680	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	685271	50696680	120418387	18	45192											
DOPEY1	23033	broad.mit.edu	37	chr6	83855297	83855297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtggaattggttcgttcaAtcagtgtcatgagagcagaa	12	12	12	5	1	3	2	3	1	0	2	4	4	3	3	0	2	1	3	0	2	4	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:83855297A>G	ENST00000349129.2	+	25	5856	c.5596A>G	c.(5596-5598)Atc>Gtc	p.I1866V	DOPEY1_ENST00000369739.3_Missense_Mutation_p.I1857V|DOPEY1_ENST00000237163.5_Missense_Mutation_p.I1847V|DOPEY1_ENST00000484282.1_3'UTR	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	1866					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		GGTTCGTTCAATCAGTGTCAT	0.373													G	83855297	A	G	83855297	3	3	489	1	0	0	0	0	1	0	0	0	4746	101	4	3	5686	3	DOPEY1	6	83855297	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	33158617	83855297	87259770	19	45193											
RARS2	57038	broad.mit.edu	37	chr6	88239302	88239302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactctccagcaactttaagAcctcttgagatttttcacga	11	14	5	11	1	3	2	1	1	2	2	4	4	3	2	2	0	3	1	2	0	3	6			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:88239302A>C	ENST00000369536.5	-	10	881	c.836T>G	c.(835-837)gTc>gGc	p.V279G		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	279					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		CAACTTTAAGACCTCTTGAGA	0.308													C	88239302	A	C	88239302	3	2	489	1	0	0	0	0	1	0	0	0	13147	275	10	5	944	5	RARS2	6	88239302	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	4384005	88239302	82875765	20	45194											
BACH2	60468	broad.mit.edu	37	chr6	90661005	90661005	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggctcacttttaatctGccccctggcaagccccggct	5	9	11	16	2	2	0	1	0	1	0	2	0	2	0	4	4	2	3	4	4	2	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:90661005G>A	ENST00000257749.4	-	7	1527	c.820C>T	c.(820-822)Cag>Tag	p.Q274*	RP3-512E2.2_ENST00000445838.1_RNA|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_Nonsense_Mutation_p.Q274*|BACH2_ENST00000537989.1_Nonsense_Mutation_p.Q274*	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	274						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CTTTTAATCTGCCCCCTGGCA	0.532													A	90661005	G	A	90661005	4	1	489	1	0	0	0	0	0	1	0	0	1289	1328	46	2	1717	2	BACH2	6	90661005	Nonsense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	2421703	90661005	80454062	21	45195											
UST	10090	broad.mit.edu	37	chr6	149340328	149340328	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgctccaaccccaggttAttttacatcattccgtactt	9	14	6	12	1	1	0	1	0	0	0	3	1	3	0	4	1	4	3	4	1	4	6			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr6:149340328A>G	ENST00000367463.4	+	6	838	c.735A>G	c.(733-735)ttA>ttG	p.L245L		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	245					protein sulfation	Golgi membrane|integral to membrane	sulfotransferase activity			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ACCCCAGGTTATTTTACATCA	0.463													G	149340328	A	G	149340328	2	3	489	1	0	0	0	0	0	0	0	1	17195	446	16	3		3	UST	6	149340328	Silent	SNP	A	TCGA-FG-8188-01A-11D-2253-08	58679323	149340328	21774739	22	45196											
RAMP3	10268	broad.mit.edu	37	chr7	45222924	45222924	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccccagacgaggttctcatCccgctgatcgttatacccgt	7	10	8	16	4	1	2	1	1	1	1	4	3	2	2	4	1	1	3	4	1	2	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:45222924C>T	ENST00000242249.4	+	3	398	c.360C>T	c.(358-360)atC>atT	p.I120I	RAMP3_ENST00000496212.1_Silent_p.I120I|RAMP3_ENST00000481345.1_Silent_p.I120I	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	120					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	AGGTTCTCATCCCGCTGATCG	0.632													T	45222924	C	T	45222924	2	4	489	1	0	0	0	0	0	0	0	1	13111	845	30	2		2	RAMP3	7	45222924	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		45222924	113915739	23	45197											
MKRN1	23608	broad.mit.edu	37	chr7	140154921	140154922	+	Frame_Shift_Del	DEL	TC	TC	-																															tctgcttgatgttcccacttTctgtctctgtggctcctctc																								rs1062780		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr7:140154921_140154922delTC	ENST00000255977.2	-	7	1433_1434	c.1209_1210delGA	c.(1207-1212)cagaaafs	p.K404fs	MKRN1_ENST00000474576.1_Frame_Shift_Del_p.K340fs|MKRN1_ENST00000437223.2_Frame_Shift_Del_p.K138fs	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	404							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					GTTCCCACTTTCTGTCTCTGTG	0.485													-	140154922	TC	-	140154921	7	5	489	1	0	1	0	1	0	0	0	0	9681	1792	62	0	246	0	MKRN1	7	140154921	Frame_Shift_Del	DEL	TC	TCGA-FG-8188-01A-11D-2253-08	94931997	140154921	18983742	24	45198											
SLC7A2	6542	broad.mit.edu	37	chr8	17396342	17396342	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagcaactggaatgaagatAgaaacaagtggttataactc	17	9	9	6	0	0	3	0	1	0	2	1	4	0	4	0	2	4	2	0	2	9	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:17396342A>G	ENST00000470360.1	+	3	126	c.9A>G	c.(7-9)atA>atG	p.I3M	SLC7A2_ENST00000522656.1_Intron|SLC7A2_ENST00000398090.3_Missense_Mutation_p.I3M|SLC7A2_ENST00000494857.1_Intron|SLC7A2_ENST00000004531.10_Missense_Mutation_p.I3M			P52569	CTR2_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 2	0					cellular amino acid metabolic process|ion transport	cytoplasm|integral to plasma membrane|membrane fraction	basic amino acid transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	25				Colorectal(111;0.0577)|COAD - Colon adenocarcinoma(73;0.216)	L-Lysine(DB00123)|L-Ornithine(DB00129)	GAATGAAGATAGAAACAAGTG	0.388													G	17396342	A	G	17396342	3	3	489	1	0	0	0	0	1	0	0	0	14791	410	15	3	11	3	SLC7A2	8	17396342	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08		17396342	128967680	25	45199											
PRKDC	5591	broad.mit.edu	37	chr8	48706915	48706915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaggaatagctttcgctgcTtatgatgaagggataaacaa	15	10	11	5	1	0	2	0	2	0	0	1	5	0	4	0	2	3	3	0	2	8	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:48706915T>C	ENST00000314191.2	-	75	10659	c.10603A>G	c.(10603-10605)Agc>Ggc	p.S3535G	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.S3535G	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3536	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				CTTTCGCTGCTTATGATGAAG	0.423								Non-homologous end-joining					C	48706915	T	C	48706915	3	2	489	1	0	0	0	0	1	0	0	0	12607	1609	56	3	1832	3	PRKDC	8	48706915	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	31310573	48706915	97657107	26	45200											
RB1CC1	9821	broad.mit.edu	37	chr8	53570054	53570054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttaccacatacatttgtatCctgcattcgtctactgtcta	9	16	4	12	1	2	0	0	0	2	0	4	0	3	0	2	0	4	2	2	0	5	7			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr8:53570054C>T	ENST00000025008.5	-	15	2858	c.2335G>A	c.(2335-2337)Gat>Aat	p.D779N	RB1CC1_ENST00000539297.1_Missense_Mutation_p.D779N|RB1CC1_ENST00000435644.2_Missense_Mutation_p.D779N|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	779					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ACATTTGTATCCTGCATTCGT	0.403													T	53570054	C	T	53570054	3	4	489	1	0	0	0	0	1	0	0	0	13187	855	30	2	2489	2	RB1CC1	8	53570054	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	4863139	53570054	92793968	27	45201											
CDH23	64072	broad.mit.edu	37	chr10	73548698	73548698	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattctgccccttgcaggAttatgacttgcttctgatct	6	15	7	13	0	3	2	0	2	3	0	3	3	3	3	3	1	3	2	3	1	1	5			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr10:73548698A>G	ENST00000224721.6	+	44	5842	c.5837A>G	c.(5836-5838)gAt>gGt	p.D1946G		NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	1941	Cadherin 18.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCCTTGCAGGATTATGACTTG	0.547													G	73548698	A	G	73548698	5	3	489	1	0	0	0	0	0	0	1	0	3138	347	12	3	6341	3	CDH23	10	73548698	Splice_Site	SNP	A	TCGA-FG-8188-01A-11D-2253-08		73548698	61986049	28	45202											
KRTAP5-3	387266	broad.mit.edu	37	chr11	1629152	1629152	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacagcagctggactgggagCagctgggcttgcagcagctg	8	7	16	10	0	0	0	0	0	0	0	0	2	0	2	0	3	8	8	0	3	1	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:1629152C>G	ENST00000399685.1	-	1	541	c.464G>C	c.(463-465)tGc>tCc	p.C155S		NM_001012708.2	NP_001012726.1	Q6L8H2	KRA53_HUMAN	keratin associated protein 5-3	155	11 X 4 AA repeats of C-C-X-P.					keratin filament				endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	8		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;0.000618)|Lung(200;0.0684)|LUSC - Lung squamous cell carcinoma(625;0.0822)		GGACTGGGAGCAGCTGGGCTT	0.627													G	1629152	C	G	1629152	3	3	489	1	0	0	0	0	1	0	0	0	8621	710	25	4	256	4	KRTAP5-3	11	1629152	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		1629152	133377364	29	45203											
APLNR	187	broad.mit.edu	37	chr11	57003348	57003348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccagccctagtcaaccacAagggtctcctggctgtaggg	8	8	11	14	0	2	0	1	0	1	0	4	0	3	0	4	3	2	2	4	3	4	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:57003348A>G	ENST00000606794.1	-	1	1327	c.1131T>C	c.(1129-1131)ctT>ctC	p.L377L		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	377						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						AGTCAACCACAAGGGTCTCCT	0.612													G	57003348	A	G	57003348	2	3	489	1	0	0	0	0	0	0	0	1	780	117	5	3		3	APLNR	11	57003348	Silent	SNP	A	TCGA-FG-8188-01A-11D-2253-08	55374196	57003348	78003168	30	45204											
NADSYN1	55191	broad.mit.edu	37	chr11	71166162	71166162	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtacttacaggtattgAaattgccaaaaacagaggag	15	10	9	7	0	1	2	0	1	1	1	1	3	1	3	1	2	4	2	1	2	6	5			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr11:71166162A>G	ENST00000319023.2	+	2	280	c.92A>G	c.(91-93)gAa>gGa	p.E31G		NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	31	CN hydrolase.				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	ACAGGTATTGAAATTGCCAAA	0.438													G	71166162	A	G	71166162	3	3	489	1	0	0	0	0	1	0	0	0	10214	246	9	3	98	3	NADSYN1	11	71166162	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	14162814	71166162	63840354	31	45205											
KRT81	3887	broad.mit.edu	37	chr12	52680930	52680930	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctgtaggtggcgatctcGatgtccaggcccagcttgga	6	9	14	12	3	1	0	0	0	1	0	3	3	2	1	3	4	1	2	3	4	1	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr12:52680930G>A	ENST00000327741.5	-	7	1271	c.1203C>T	c.(1201-1203)atC>atT	p.I401I	KRT86_ENST00000423955.2_Intron|KRT86_ENST00000544024.1_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	401	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		TGGCGATCTCGATGTCCAGGC	0.647													A	52680930	G	A	52680930	2	1	489	1	0	0	0	0	0	0	0	1	8553	1048	37	1		1	KRT81	12	52680930	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		52680930	81170965	32	45206											
RYR3	6263	broad.mit.edu	37	chr15	33893721	33893721	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgccccggagaaacctactCctgcagacacgactgattaa	12	7	8	14	2	0	3	0	1	0	2	1	5	1	3	4	1	4	1	4	1	3	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr15:33893721C>G	ENST00000389232.4	+	17	1960	c.1890C>G	c.(1888-1890)ctC>ctG	p.L630L	RYR3_ENST00000415757.3_Silent_p.L630L	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	630	B30.2/SPRY 1.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAACCTACTCCTGCAGACAC	0.512													G	33893721	C	G	33893721	2	3	489	1	0	0	0	0	0	0	0	1	13861	842	30	4		4	RYR3	15	33893721	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		33893721	68637671	33	45207											
KIAA0556	23247	broad.mit.edu	37	chr16	27786309	27786309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaactccctggagggtgtGggcggggacgtccgcacccc	5	6	17	13	3	0	1	0	1	0	0	2	3	2	3	4	5	1	1	4	5	1	0			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr16:27786309G>A	ENST00000261588.4	+	24	4372	c.4353G>A	c.(4351-4353)gtG>gtA	p.V1451V		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	1451										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						TGGAGGGTGTGGGCGGGGACG	0.627													A	27786309	G	A	27786309	2	1	489	1	0	0	0	0	0	0	0	1	8241	1335	47	2		2	KIAA0556	16	27786309	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08		27786309	62568444	34	45208											
RAP1GAP2	23108	broad.mit.edu	37	chr17	2909299	2909299	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcaccaatgccgagaaCgcctgctgcaagtcggacaa	13	5	10	13	3	1	1	1	0	0	1	2	3	1	2	3	1	5	3	3	1	5	0			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:2909299C>T	ENST00000254695.8	+	16	1413	c.1323C>T	c.(1321-1323)aaC>aaT	p.N441N	RAP1GAP2_ENST00000366401.4_Silent_p.N426N|RAP1GAP2_ENST00000542807.1_Silent_p.N441N|RAP1GAP2_ENST00000540393.2_Silent_p.N422N	NM_015085.4	NP_055900.4	Q684P5	RPGP2_HUMAN	RAP1 GTPase activating protein 2	441	Rap-GAP.				regulation of small GTPase mediated signal transduction	centrosome|cytosol|perinuclear region of cytoplasm	GTPase activator activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	11						ATGCCGAGAACGCCTGCTGCA	0.572													T	2909299	C	T	2909299	2	4	489	1	0	0	0	0	0	0	0	1	13126	535	19	1		1	RAP1GAP2	17	2909299	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		2909299	78285911	35	45209											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	489	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	4667822	7577121	73618089	36	45210											
TP53	7157	broad.mit.edu	37	chr17	7578457	7578457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtagatggccatggcgCggacgcgggtgccgggcggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	6	1	2	2	6	1	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:7578457C>T	ENST00000420246.2	-	5	605	c.473G>A	c.(472-474)cGc>cAc	p.R158H	TP53_ENST00000413465.2_Missense_Mutation_p.R158H|TP53_ENST00000445888.2_Missense_Mutation_p.R158H|TP53_ENST00000269305.4_Missense_Mutation_p.R158H|TP53_ENST00000359597.4_Missense_Mutation_p.R158H|TP53_ENST00000455263.2_Missense_Mutation_p.R158H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GGCCATGGCGCGGACGCGGGT	0.627		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)			T	7578457	C	T	7578457	3	4	489	1	0	0	0	0	1	0	0	0	16482	768	27	1	825	1	TP53	17	7578457	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	1336	7578457	73616753	37	45211											
DNAH9	1770	broad.mit.edu	37	chr17	11795176	11795176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggtggccaacctaatagAcagcataaccttctctgtgt	10	10	10	11	1	1	1	0	0	1	1	2	1	1	1	3	2	3	1	3	2	4	4			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:11795176A>G	ENST00000262442.4	+	58	11263	c.11195A>G	c.(11194-11196)gAc>gGc	p.D3732G	DNAH9_ENST00000608377.1_Missense_Mutation_p.D44G|DNAH9_ENST00000396001.2_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.D3732G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AACCTAATAGACAGCATAACC	0.542													G	11795176	A	G	11795176	3	3	489	1	0	0	0	0	1	0	0	0	4647	275	10	3	11425	3	DNAH9	17	11795176	Missense_Mutation	SNP	A	TCGA-FG-8188-01A-11D-2253-08	4216719	11795176	69400034	38	45212											
ASPSCR1	79058	broad.mit.edu	37	chr17	79943447	79943447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctttctgttcaggccagaCcctctgggagcttctcagcc	5	12	9	15	0	5	1	2	0	4	1	6	2	5	2	3	2	2	2	3	2	0	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr17:79943447C>G	ENST00000306729.7	+	4	435	c.338C>G	c.(337-339)aCc>aGc	p.T113S	ASPSCR1_ENST00000580534.1_Missense_Mutation_p.T36S|ASPSCR1_ENST00000581647.1_Missense_Mutation_p.T113S|ASPSCR1_ENST00000306739.4_Missense_Mutation_p.T113S	NM_001251888.1	NP_001238817.1	Q9BZE9	ASPC1_HUMAN	alveolar soft part sarcoma chromosome region, candidate 1	113							protein binding		ASPSCR1/TFE3(167)	breast(2)|large_intestine(2)	4	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			TCAGGCCAGACCCTCTGGGAG	0.542			T	TFE3	alveolar soft part sarcoma								G	79943447	C	G	79943447	3	3	489	1	0	0	0	0	1	0	0	0	1064	507	18	4	352	4	ASPSCR1	17	79943447	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08	68148271	79943447	1251763	39	45213											
HMHA1	23526	broad.mit.edu	37	chr19	1085938	1085938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctgcaggccccactgccccCcatgaggctccgtggcgggc	4	5	14	18	2	0	1	0	1	0	0	1	1	1	1	6	4	2	3	6	4	0	0	rs146748497		TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:1085938C>T	ENST00000313093.2	+	23	3575	c.3344C>T	c.(3343-3345)cCc>cTc	p.P1115L	HMHA1_ENST00000586866.1_Missense_Mutation_p.P1119L|HMHA1_ENST00000543365.1_Missense_Mutation_p.P998L|HMHA1_ENST00000591169.1_3'UTR|HMHA1_ENST00000590214.1_Missense_Mutation_p.P1142L|HMHA1_ENST00000539243.2_Missense_Mutation_p.P1131L|HMHA1_ENST00000536472.1_Missense_Mutation_p.P983L|HMHA1_ENST00000590577.1_Missense_Mutation_p.P750L	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	1115					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCACTGCCCCCCATGAGGCTC	0.682													T	1085938	C	T	1085938	3	4	489	1	0	0	0	0	1	0	0	0	7295	623	22	2	3434	2	HMHA1	19	1085938	Missense_Mutation	SNP	C	TCGA-FG-8188-01A-11D-2253-08		1085938	58043045	40	45214											
SIGLEC11	114132	broad.mit.edu	37	chr19	50464040	50464040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgtctttgggctggtccGtcctttgaaccagtagccat	6	12	10	13	2	1	1	0	1	1	0	3	1	3	1	5	2	2	2	5	2	2	3	rs148651187	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:50464040G>A	ENST00000447370.2	-	2	319	c.229C>T	c.(229-231)Cgg>Tgg	p.R77W	SIGLEC11_ENST00000426971.2_Missense_Mutation_p.R77W	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	77	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		GGGCTGGTCCGTCCTTTGAAC	0.607													A	50464040	G	A	50464040	3	1	489	1	0	0	0	0	1	0	0	0	14401	1144	40	1	1907	1	SIGLEC11	19	50464040	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08	49378102	50464040	8664943	41	45215											
LILRA4	23547	broad.mit.edu	37	chr19	54850418	54850418	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgtggccacggtgcccGtagacacagacagacacatg	11	5	13	12	2	0	3	0	0	0	3	0	3	0	3	2	3	1	1	2	3	1	1	rs35407007	by1000genomes	TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr19:54850418G>A	ENST00000291759.4	-	0	3					NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4							integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CACGGTGCCCGTAGACACAGA	0.597													A	54850418	G	A	54850418	1	1	489	1	0	0	0	0	0	0	0	0	8847	1160	40	1		1	LILRA4	19	54850418	Translation_Start_Site	SNP	G	TCGA-FG-8188-01A-11D-2253-08	4386378	54850418	4278565	42	45216											
DBNDD2	55861	broad.mit.edu	37	chr20	44038638	44038640	+	In_Frame_Del	DEL	CCT	CCT	-																															agacaggaccacatctaggaCctcctcctcctcctcctccg																										TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr20:44038638_44038640delCCT	ENST00000372712.2	+	4	925_927	c.344_346delCCT	c.(343-348)acctcc>acc	p.S121del	DBNDD2_ENST00000360981.4_In_Frame_Del_p.S121del|DBNDD2_ENST00000372710.3_In_Frame_Del_p.S223del|DBNDD2_ENST00000372722.3_3'UTR|DBNDD2_ENST00000372720.3_In_Frame_Del_p.S219del|DBNDD2_ENST00000357275.2_In_Frame_Del_p.S121del|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000372723.3_In_Frame_Del_p.S121del|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372717.1_3'UTR			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	219					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				ACATCTAGGAcctcctcctcctc	0.567													-	44038640	CCT	-	44038638	7	5	489	1	0	1	0	1	0	0	0	0	4288	507	18	0	416	0	DBNDD2	20	44038638	In_Frame_Del	DEL	CCT	TCGA-FG-8188-01A-11D-2253-08		44038638	18986882	43	45217											
KRTAP10-12	386685	broad.mit.edu	37	chr21	46117134	46117134	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accatgtccgtctgctccagCgacctgagctatggcagccg	7	8	11	15	3	1	1	0	1	1	0	3	2	3	1	5	1	4	3	5	1	1	1			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chr21:46117134C>T	ENST00000400365.3	+	1	48	c.18C>T	c.(16-18)agC>agT	p.S6S	TSPEAR_ENST00000323084.4_Intron	NM_198699.1	NP_941972.1	P60413	KR10C_HUMAN	keratin associated protein 10-12	6						keratin filament				large_intestine(1)|lung(8)	9						TCTGCTCCAGCGACCTGAGCT	0.642													T	46117134	C	T	46117134	2	4	489	1	0	0	0	0	0	0	0	1	8566	767	27	1		1	KRTAP10-12	21	46117134	Silent	SNP	C	TCGA-FG-8188-01A-11D-2253-08		46117134	2012761	44	45218											
ACOT9	23597	broad.mit.edu	37	chrX	23748659	23748659	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacctcccaagctgtcaaGatcctcaagaatcctgccaa	13	8	6	14	0	2	2	2	0	0	2	5	2	5	2	5	0	3	2	5	0	6	1			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:23748659G>T	ENST00000379303.5	-	6	513	c.385C>A	c.(385-387)Ctt>Att	p.L129I	ACOT9_ENST00000492081.1_Missense_Mutation_p.L60I|ACOT9_ENST00000336430.7_Missense_Mutation_p.L120I|ACOT9_ENST00000379295.1_Missense_Mutation_p.L60I	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	120					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGCTGTCAAGATCCTCAAGA	0.343													T	23748659	G	T	23748659	3	4	489	1	0	0	0	0	1	0	0	0	157	942	33	4	1005	4	ACOT9	23	23748659	Missense_Mutation	SNP	G	TCGA-FG-8188-01A-11D-2253-08		23748659	131521901	45	45219											
ATRX	546	broad.mit.edu	37	chrX	76939473	76939474	+	Frame_Shift_Del	DEL	TT	TT	-																															tgctctttggtatttttctcTttgtttacagcatccatcgc																										TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:76939473_76939474delTT	ENST00000373344.5	-	9	1488_1489	c.1274_1275delAA	c.(1273-1275)aaafs	p.K425fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K387fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	425					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)	TATTTTTCTCTTTGTTTACAGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939474	TT	-	76939473	7	5	489	1	0	1	0	1	0	0	0	0	1213	1606	56	0	6311	0	ATRX	23	76939473	Frame_Shift_Del	DEL	TT	TCGA-FG-8188-01A-11D-2253-08	53190814	76939473	78331087	46	45220											
PCDH19	57526	broad.mit.edu	37	chrX	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-																															gcctgcgtccacagtatggcCagcagcagcagcaccggcag																										TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													-	99663562	CAG	-	99663560	7	5	489	1	0	1	0	1	0	0	0	0	11590	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-FG-8188-01A-11D-2253-08	22724087	99663560	55607000	47	45221											
GPC4	2239	broad.mit.edu	37	chrX	132458383	132458383	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cggaacatccgctccaggagGcgagcccagaagtcatttag	11	6	12	12	3	1	1	1	0	0	1	3	4	3	3	3	3	2	1	3	3	3	2			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:132458383G>A	ENST00000370828.3	-	3	1025	c.501C>T	c.(499-501)cgC>cgT	p.R167R	GPC4_ENST00000535467.1_Silent_p.R97R	NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	167					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					GCTCCAGGAGGCGAGCCCAGA	0.468													A	132458383	G	A	132458383	2	1	489	1	0	0	0	0	0	0	0	1	6654	1190	42	2		2	GPC4	23	132458383	Silent	SNP	G	TCGA-FG-8188-01A-11D-2253-08	32794823	132458383	22812177	48	45222											
FMR1	2332	broad.mit.edu	37	chrX	147010283	147010283	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccacaaaagatacttTccataagatcaagctggatg	15	9	7	10	0	1	2	1	0	0	2	2	3	2	3	3	1	3	1	3	1	5	3			TCGA-FG-8188-01A-11D-2253-08	TCGA-FG-8188-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fec960b-9288-453a-8c65-5b3e04b61550	c145c9e4-6e4d-4f21-a264-4bbb8a82930a	g.chrX:147010283T>C	ENST00000218200.8	+	5	606	c.377T>C	c.(376-378)tTc>tCc	p.F126S	FMR1_ENST00000370475.4_Missense_Mutation_p.F126S|FMR1_ENST00000370477.1_Missense_Mutation_p.F126S|FMR1_ENST00000370471.3_Missense_Mutation_p.F126S|FMR1_ENST00000439526.2_Missense_Mutation_p.F126S|FMR1_ENST00000334557.6_Missense_Mutation_p.F126S|FMR1_ENST00000370470.1_Missense_Mutation_p.F126S	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	126					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAAGATACTTTCCATAAGATC	0.368									Fragile X syndrome				C	147010283	T	C	147010283	3	2	489	1	0	0	0	0	1	0	0	0	6009	1783	62	3	395	3	FMR1	23	147010283	Missense_Mutation	SNP	T	TCGA-FG-8188-01A-11D-2253-08	14551900	147010283	8260277	49	45223											
FAM129A	116496	broad.mit.edu	37	chr1	184863335	184863335	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatagttccaggcgccaaTggtggcttaaagaagatgaa	16	8	11	6	1	0	3	0	1	0	2	1	3	1	3	2	3	0	2	2	3	8	3			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr1:184863335T>C	ENST00000367511.3	-	3	385	c.192A>G	c.(190-192)ccA>ccG	p.P64P		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	64					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CAGGCGCCAATGGTGGCTTAA	0.343													C	184863335	T	C	184863335	2	2	490	1	0	0	0	0	0	0	0	1	5481	1451	51	3		3	FAM129A	1	184863335	Silent	SNP	T	TCGA-FG-8189-01B-11D-A289-08		184863335	64387286	1	45224											
RYR2	6262	broad.mit.edu	37	chr1	237954771	237954771	+	Frame_Shift_Del	DEL	T	T	-																															acaacatgagaatgttagccTtatttgtcgcatttgctatc																										TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr1:237954771delT	ENST00000366574.2	+	93	13836	c.13519delT	c.(13519-13521)ttafs	p.L4507fs	RYR2_ENST00000360064.6_Frame_Shift_Del_p.L4513fs|RYR2_ENST00000542537.1_Frame_Shift_Del_p.L4491fs	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4507					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGTTAGCCTTATTTGTCGC	0.343													-	237954771	T	-	237954771	7	5	490	1	0	1	0	1	0	0	0	0	13860	1606	56	0	13889	0	RYR2	1	237954771	Frame_Shift_Del	DEL	T	TCGA-FG-8189-01B-11D-A289-08	53091436	237954771	11295850	2	45225											
NHEJ1	79840	broad.mit.edu	37	chr2	220012390	220012390	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcttacctcgaatcagcGtagccccactctcctggtag	7	11	7	16	2	3	0	1	0	2	0	6	1	4	0	5	1	3	2	5	1	4	3			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr2:220012390G>A	ENST00000356853.5	-	4	651	c.518C>T	c.(517-519)aCg>aTg	p.T173M	NHEJ1_ENST00000409720.1_Missense_Mutation_p.T173M	NM_024782.2	NP_079058.1	Q9H9Q4	NHEJ1_HUMAN	nonhomologous end-joining factor 1	173					B cell differentiation|central nervous system development|DNA recombination|double-strand break repair via nonhomologous end joining|positive regulation of ligase activity|response to ionizing radiation|T cell differentiation	nonhomologous end joining complex|nucleus	DNA binding|identical protein binding			kidney(1)|large_intestine(3)|lung(5)|prostate(1)|skin(2)	12		Renal(207;0.0915)		Epithelial(149;2.15e-06)|all cancers(144;0.000339)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0112)		TCGAATCAGCGTAGCCCCACT	0.478								Non-homologous end-joining					A	220012390	G	A	220012390	3	1	490	1	0	0	0	0	1	0	0	0	10478	1145	40	1	401	1	NHEJ1	2	220012390	Missense_Mutation	SNP	G	TCGA-FG-8189-01B-11D-A289-08		220012390	23186983	3	45226											
ITPR3	3710	broad.mit.edu	37	chr6	33632679	33632679	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggctgcggcacctctgcaCcaacacgtggattcagagca	9	6	11	15	3	2	1	1	0	1	1	2	2	2	2	3	3	4	4	3	3	1	1			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr6:33632679C>A	ENST00000374316.5	+	13	2241	c.1181C>A	c.(1180-1182)aCc>aAc	p.T394N	ITPR3_ENST00000605930.1_Missense_Mutation_p.T394N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	394	MIR 5.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding	p.T394N(4)		NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACCTCTGCACCAACACGTGG	0.662													A	33632679	C	A	33632679	3	1	490	1	0	0	0	0	1	0	0	0	7980	507	18	4	1227	4	ITPR3	6	33632679	Missense_Mutation	SNP	C	TCGA-FG-8189-01B-11D-A289-08		33632679	137482388	4	45227											
FREM1	158326	broad.mit.edu	37	chr9	14845980	14845980	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaaagtcagccatccatgCtgcaggccaccaacggtgac	11	7	9	14	1	1	1	1	1	0	0	2	1	2	1	4	2	4	2	4	2	3	1			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr9:14845980C>A	ENST00000380881.4	-	9	2189	c.1374G>T	c.(1372-1374)caG>caT	p.Q458H	FREM1_ENST00000422223.2_Missense_Mutation_p.Q457H|FREM1_ENST00000380880.3_Missense_Mutation_p.Q457H			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	457					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCCATCCATGCTGCAGGCCAC	0.443													A	14845980	C	A	14845980	3	1	490	1	0	0	0	0	1	0	0	0	6096	796	28	4	5338	4	FREM1	9	14845980	Missense_Mutation	SNP	C	TCGA-FG-8189-01B-11D-A289-08		14845980	126367451	5	45228											
LRRC4C	57689	broad.mit.edu	37	chr11	40137057	40137057	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgactgaaggttgtcaaaGgcattccgttcaatcacttg	11	12	10	8	1	3	2	3	2	0	0	4	2	4	2	1	2	0	3	1	2	3	4			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr11:40137057G>C	ENST00000278198.2	-	2	2749	c.786C>G	c.(784-786)gcC>gcG	p.A262A	LRRC4C_ENST00000530763.1_Silent_p.A262A|LRRC4C_ENST00000528697.1_Silent_p.A262A|LRRC4C_ENST00000527150.1_Silent_p.A262A			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	262					regulation of axonogenesis	integral to membrane	protein binding			NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				GGTTGTCAAAGGCATTCCGTT	0.453													C	40137057	G	C	40137057	2	2	490	1	0	0	0	0	0	0	0	1	9078	987	35	4		4	LRRC4C	11	40137057	Silent	SNP	G	TCGA-FG-8189-01B-11D-A289-08		40137057	94869459	6	45229											
FGF4	2249	broad.mit.edu	37	chr11	69588192	69588192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggggtacttgtaggactcgTaggcgttgtagttgttggga	6	13	17	5	3	0	0	0	0	0	0	1	2	0	2	0	5	1	7	0	5	4	8			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr11:69588192T>G	ENST00000168712.1	-	3	824	c.506A>C	c.(505-507)tAc>tCc	p.Y169S	FGF4_ENST00000538040.1_5'UTR	NM_002007.2	NP_001998.1	P08620	FGF4_HUMAN	fibroblast growth factor 4	169					cell-cell signaling|chondroblast differentiation|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|mesenchymal cell proliferation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade	extracellular region	growth factor activity|heparin binding			lung(3)	3	Melanoma(5;1.89e-05)		LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)		Pentosan Polysulfate(DB00686)	GTAGGACTCGTAGGCGTTGTA	0.567													G	69588192	T	G	69588192	3	3	490	1	0	0	0	0	1	0	0	0	5903	1638	57	5	118	5	FGF4	11	69588192	Missense_Mutation	SNP	T	TCGA-FG-8189-01B-11D-A289-08	29451135	69588192	65418324	7	45230											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	4	10	17	10	2	0	1	0	1	0	0	1	1	0	1	3	5	2	1	3	5	1	1			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chr15:90631839T>A	ENST00000330062.3	-	4	627	c.514A>T	c.(514-516)Agg>Tgg	p.R172W	IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000540499.2_Missense_Mutation_p.R120W|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								A	90631839	T	A	90631839	3	1	490	1	0	0	0	0	1	0	0	0	7553	1579	55	5	876	5	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-FG-8189-01B-11D-A289-08		90631839	11899553	8	45231											
PRPS1	5631	broad.mit.edu	37	chrX	106890921	106890921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatttctcgcatcaacaacGcatgctttgaggcagtagta	11	12	8	10	2	2	1	1	1	1	0	3	1	2	1	0	1	3	6	0	1	5	5			TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chrX:106890921G>A	ENST00000372435.4	+	6	912	c.790G>A	c.(790-792)Gca>Aca	p.A264T	PRPS1_ENST00000372428.4_Missense_Mutation_p.A197T|PRPS1_ENST00000372418.1_Missense_Mutation_p.A164T|PRPS1_ENST00000543248.1_Missense_Mutation_p.A264T	NM_002764.3	NP_002755.1	P60891	PRPS1_HUMAN	phosphoribosyl pyrophosphate synthetase 1	264					5-phosphoribose 1-diphosphate biosynthetic process|hypoxanthine biosynthetic process|nervous system development|nucleoside metabolic process|purine nucleotide biosynthetic process|pyrimidine nucleotide biosynthetic process|ribonucleoside monophosphate biosynthetic process|urate biosynthetic process	cytosol	ATP binding|kinase activity|magnesium ion binding|protein homodimerization activity|ribose phosphate diphosphokinase activity			breast(3)|endometrium(2)|kidney(3)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	23						CATCAACAACGCATGCTTTGA	0.453													A	106890921	G	A	106890921	3	1	490	1	0	0	0	0	1	0	0	0	12664	1087	38	1	812	1	PRPS1	23	106890921	Missense_Mutation	SNP	G	TCGA-FG-8189-01B-11D-A289-08		106890921	48379639	9	45232											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-																															tggttcctggcctattggttGtggtggtggtggtgtggtcc																										TCGA-FG-8189-01B-11D-A289-08	TCGA-FG-8189-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aec88520-3464-4c47-afcc-36130f51125e	13bc5e25-1a60-4107-b129-99b0995a6897	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000466436.1_Intron	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													-	149984526	GTG	-	149984524	7	5	490	1	0	1	0	1	0	0	0	0	3081	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-FG-8189-01B-11D-A289-08	43093603	149984524	5286036	10	45233											
ZMYM6	9204	broad.mit.edu	37	chr1	35476495	35476495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctggctgcagcagagccaCggatggagctgggggaaacg	9	4	19	9	2	0	1	0	0	0	1	0	4	0	4	1	6	5	5	1	6	1	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:35476495C>T	ENST00000357182.4	-	9	1432	c.1205G>A	c.(1204-1206)cGt>cAt	p.R402H	ZMYM6_ENST00000373340.2_Missense_Mutation_p.R402H|ZMYM6_ENST00000487874.1_Missense_Mutation_p.R402H|ZMYM6_ENST00000493328.1_5'UTR	NM_007167.3	NP_009098.3	O95789	ZMYM6_HUMAN	zinc finger, MYM-type 6	402					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(10)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	44		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.13)				AGCAGAGCCACGGATGGAGCT	0.547													T	35476495	C	T	35476495	3	4	491	1	0	0	0	0	1	0	0	0	17805	536	19	1	2804	1	ZMYM6	1	35476495	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		35476495	213774126	1	45234											
FAF1	11124	broad.mit.edu	37	chr1	50907162	50907162	+	Frame_Shift_Del	DEL	C	C	-																															ttgagggaacaactttacctCcaataatgatttatttgggt																										TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:50907162delC	ENST00000396153.2	-	19	2354	c.1903delG	c.(1903-1905)gagfs	p.E635fs	FAF1_ENST00000545823.1_Frame_Shift_Del_p.E393fs|FAF1_ENST00000371778.4_Frame_Shift_Del_p.E635fs	NM_007051.2	NP_008982.1	Q9UNN5	FAF1_HUMAN	Fas (TNFRSF6) associated factor 1	635	UBX.				apoptosis|cytoplasmic sequestering of NF-kappaB|positive regulation of apoptosis|positive regulation of protein complex assembly|proteasomal ubiquitin-dependent protein catabolic process|regulation of protein catabolic process	CD95 death-inducing signaling complex|cytosol|perinuclear region of cytoplasm	heat shock protein binding|NF-kappaB binding|protein kinase binding|protein kinase regulator activity			breast(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|pancreas(2)|upper_aerodigestive_tract(1)	24				GBM - Glioblastoma multiforme(3;3.18e-11)|all cancers(3;0.00526)		AACTTTACCTCCAATAATGAT	0.423													-	50907162	C	-	50907162	7	5	491	1	0	1	0	1	0	0	0	0	5414	864	30	0	53	0	FAF1	1	50907162	Frame_Shift_Del	DEL	C	TCGA-FG-8191-01A-11D-2253-08	15430667	50907162	198343459	2	45235											
SEC16B	89866	broad.mit.edu	37	chr1	177909803	177909803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggtccctgtctccactgCgtctttctaaaaccagagga	9	10	8	14	1	3	1	0	0	3	1	5	2	4	2	4	2	2	0	4	2	2	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:177909803C>T	ENST00000308284.6	-	17	2158	c.2069G>A	c.(2068-2070)cGc>cAc	p.R690H	RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	690					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GTCTCCACTGCGTCTTTCTAA	0.562													T	177909803	C	T	177909803	3	4	491	1	0	0	0	0	1	0	0	0	14080	768	27	1	1153	1	SEC16B	1	177909803	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	127002641	177909803	71340818	3	45236											
NID1	4811	broad.mit.edu	37	chr1	236144995	236144995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtgccgtccagcttcGccacttctattcgatccagg	5	11	10	15	4	1	0	0	0	1	0	5	1	3	0	4	1	3	2	4	1	1	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:236144995G>A	ENST00000264187.6	-	16	3225	c.3143C>T	c.(3142-3144)gCg>gTg	p.A1048V	NID1_ENST00000366595.3_Missense_Mutation_p.A915V	NM_002508.2	NP_002499.2	P14543	NID1_HUMAN	nidogen 1	1048					cell-matrix adhesion	basement membrane	calcium ion binding			breast(4)|endometrium(9)|kidney(1)|large_intestine(23)|lung(20)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(1)	66	Ovarian(103;0.0544)|Breast(184;0.23)	all_cancers(173;0.00491)|Prostate(94;0.184)|Acute lymphoblastic leukemia(190;0.229)	OV - Ovarian serous cystadenocarcinoma(106;0.00162)		Becaplermin(DB00102)|Urokinase(DB00013)	GTCCAGCTTCGCCACTTCTAT	0.498													A	236144995	G	A	236144995	3	1	491	1	0	0	0	0	1	0	0	0	10490	1087	38	1	620	1	NID1	1	236144995	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	58235192	236144995	13105626	4	45237											
RYR2	6262	broad.mit.edu	37	chr1	237754205	237754205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctagtgcccgatcGtgttgacaaagacaaagaag	13	8	11	9	2	1	3	0	1	1	2	2	4	1	3	2	1	1	1	2	1	4	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr1:237754205G>A	ENST00000366574.2	+	31	4390	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H	RYR2_ENST00000360064.6_Missense_Mutation_p.R1356H|RYR2_ENST00000542537.1_Missense_Mutation_p.R1342H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1358	4 X approximate repeats.|B30.2/SPRY 3.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GTGCCCGATCGTGTTGACAAA	0.428													A	237754205	G	A	237754205	3	1	491	1	0	0	0	0	1	0	0	0	13860	1145	40	1	4195	1	RYR2	1	237754205	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	1609210	237754205	11496416	5	45238											
LRP1B	53353	broad.mit.edu	37	chr2	141607789	141607789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagtctatcacagtaacGtcatcaatatcagggactgt	13	11	8	9	2	5	0	4	0	1	0	6	2	5	1	0	1	1	1	0	1	5	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:141607789G>A	ENST00000389484.3	-	29	5792	c.4821C>T	c.(4819-4821)gaC>gaT	p.D1607D		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1607					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	p.D1607D(1)		NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCACAGTAACGTCATCAATAT	0.368										TSP Lung(27;0.18)			A	141607789	G	A	141607789	2	1	491	1	0	0	0	0	0	0	0	1	9025	1136	40	1		1	LRP1B	2	141607789	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08		141607789	101591584	6	45239											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	491	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	67505323	209113112	34086261	7	45240											
OR5K4	403278	broad.mit.edu	37	chr3	98073379	98073379	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccttttgactgttttcaaaAtgaaatccaaggagggaaga	14	12	9	6	0	1	3	1	2	0	1	3	5	3	5	2	2	0	1	2	2	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr3:98073379A>T	ENST00000354924.2	+	1	682	c.682A>T	c.(682-684)Atg>Ttg	p.M228L	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005517.1	NP_001005517.1	A6NMS3	OR5K4_HUMAN	olfactory receptor, family 5, subfamily K, member 4	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	21						TGTTTTCAAAATGAAATCCAA	0.338													T	98073379	A	T	98073379	3	4	491	1	0	0	0	0	1	0	0	0	11245	101	4	5	684	5	OR5K4	3	98073379	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		98073379	99949051	8	45241											
SNX18	112574	broad.mit.edu	37	chr5	53815358	53815358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggacctattagcgctgtatCaggggcatctggctaacttc	8	12	11	10	1	2	0	1	0	1	0	3	1	2	1	1	4	2	4	1	4	4	5			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr5:53815358C>G	ENST00000343017.6	+	1	1770	c.1576C>G	c.(1576-1578)Cag>Gag	p.Q526E	SNX18_ENST00000326277.3_Missense_Mutation_p.Q526E|SNX18_ENST00000381410.4_Missense_Mutation_p.Q526E	NM_001145427.1	NP_001138899.1	Q96RF0	SNX18_HUMAN	sorting nexin 18	526	BAR.				cell communication|endocytosis|positive regulation of GTPase activity|protein transport	endomembrane system|endosome membrane|extrinsic to internal side of plasma membrane	phosphatidylinositol binding|protein binding			endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	18		Lung NSC(810;3.46e-05)|Breast(144;0.102)				AGCGCTGTATCAGGGGCATCT	0.557													G	53815358	C	G	53815358	3	3	491	1	0	0	0	0	1	0	0	0	14983	827	29	4	1578	4	SNX18	5	53815358	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		53815358	127099902	9	45242											
IBTK	25998	broad.mit.edu	37	chr6	82912294	82912294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctataaactgtaaacaagAcagtttcaactgttttgcac	14	13	5	9	0	1	1	1	0	0	1	2	1	2	1	1	0	4	4	1	0	7	6			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:82912294A>G	ENST00000306270.7	-	18	3229	c.2680T>C	c.(2680-2682)Tct>Cct	p.S894P	IBTK_ENST00000503631.1_Missense_Mutation_p.S693P|IBTK_ENST00000510291.1_Missense_Mutation_p.S894P	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	894					negative regulation of protein phosphorylation|release of sequestered calcium ion into cytosol	cytoplasm|membrane|nucleus	protein kinase binding|protein tyrosine kinase inhibitor activity			central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		TGTAAACAAGACAGTTTCAAC	0.343													G	82912294	A	G	82912294	3	3	491	1	0	0	0	0	1	0	0	0	7534	275	10	3	1429	3	IBTK	6	82912294	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		82912294	88202773	10	45243											
SLC35F1	222553	broad.mit.edu	37	chr6	118588282	118588282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaatgggctgcatggtggGagcagatgtgcttgtgggaa	8	9	20	4	0	0	1	0	0	0	1	0	4	0	4	0	5	3	4	0	5	2	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr6:118588282G>A	ENST00000360388.4	+	4	803	c.602G>A	c.(601-603)gGa>gAa	p.G201E		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	201					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TGCATGGTGGGAGCAGATGTG	0.537													A	118588282	G	A	118588282	3	1	491	1	0	0	0	0	1	0	0	0	14682	1174	41	2	616	2	SLC35F1	6	118588282	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	35675988	118588282	52526785	11	45244											
WNT2	7472	broad.mit.edu	37	chr7	116937826	116937826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttcctccagagataatcGcccgttttcctgaagtcggc	8	12	8	13	3	0	2	0	1	0	1	5	3	3	2	4	1	1	1	4	1	3	5			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:116937826G>A	ENST00000265441.3	-	4	992	c.693C>T	c.(691-693)ggC>ggT	p.G231G		NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	231					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		AGAGATAATCGCCCGTTTTCC	0.532													A	116937826	G	A	116937826	2	1	491	1	0	0	0	0	0	0	0	1	17488	1074	38	1		1	WNT2	7	116937826	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08		116937826	42200837	12	45245											
EPHB6	2051	broad.mit.edu	37	chr7	142562152	142562152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaactgaacgtcaaagaGcggagctttgggcctctcac	10	8	11	12	2	2	2	2	1	1	1	3	3	2	3	1	2	5	2	1	2	3	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr7:142562152G>A	ENST00000392957.2	+	7	1381	c.594G>A	c.(592-594)gaG>gaA	p.E198E	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.E198E	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	198						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					ACGTCAAAGAGCGGAGCTTTG	0.657													A	142562152	G	A	142562152	2	1	491	1	0	0	0	0	0	0	0	1	5219	962	34	2		2	EPHB6	7	142562152	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	25624326	142562152	16576511	13	45246											
NKX3-1	4824	broad.mit.edu	37	chr8	23539038	23539038	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccaactcgatcacctgaGtgtgggagaaggcagctcgg	9	8	13	11	2	2	2	1	1	1	1	5	4	2	2	2	3	2	2	2	3	2	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr8:23539038G>A	ENST00000380871.4	-	2	438	c.401C>T	c.(400-402)aCt>aTt	p.T134I	NKX3-1_ENST00000523261.1_Missense_Mutation_p.T59I	NM_006167.3	NP_006158.2	Q99801	NKX31_HUMAN	NK3 homeobox 1	134					negative regulation of estrogen receptor binding|negative regulation of transcription, DNA-dependent|positive regulation of cell division|positive regulation of mitotic cell cycle|positive regulation of transcription from RNA polymerase II promoter	nucleus	estrogen receptor activity|estrogen receptor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region sequence-specific DNA binding			large_intestine(3)|lung(4)|prostate(5)|skin(2)	14		Prostate(55;0.114)		Colorectal(74;0.0146)|COAD - Colon adenocarcinoma(73;0.061)|BRCA - Breast invasive adenocarcinoma(99;0.0708)		GATCACCTGAGTGTGGGAGAA	0.577													A	23539038	G	A	23539038	3	1	491	1	0	0	0	0	1	0	0	0	10531	1029	36	2	307	2	NKX3-1	8	23539038	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		23539038	122824984	14	45247											
FAM189A2	9413	broad.mit.edu	37	chr9	72000864	72000864	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccatccttctgaggagagagGtgatgtcattccccaagctc	9	10	10	12	0	2	3	1	2	1	1	5	5	4	4	4	2	1	1	4	2	1	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr9:72000864G>T	ENST00000257515.8	+	9	1276		c.e9+1		FAM189A2_ENST00000469179.1_Splice_Site|FAM189A2_ENST00000303068.7_Splice_Site|FAM189A2_ENST00000455972.1_Splice_Site	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						GAGGAGAGAGGTGATGTCATT	0.577													T	72000864	G	T	72000864	5	4	491	1	0	0	0	0	0	0	1	0	5563	1275	44	4	887	4	FAM189A2	9	72000864	Splice_Site	SNP	G	TCGA-FG-8191-01A-11D-2253-08		72000864	69212567	15	45248											
MYO3A	53904	broad.mit.edu	37	chr10	26432481	26432481	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaatgggtttactttccctActtgatgaagaaagtagatt	12	14	8	7	0	0	4	0	2	0	2	1	4	1	4	2	1	2	2	2	1	6	7			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:26432481A>G	ENST00000265944.5	+	21	2533	c.2367A>G	c.(2365-2367)ctA>ctG	p.L789L	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	789	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TACTTTCCCTACTTGATGAAG	0.403													G	26432481	A	G	26432481	2	3	491	1	0	0	0	0	0	0	0	1	10152	378	14	3		3	MYO3A	10	26432481	Silent	SNP	A	TCGA-FG-8191-01A-11D-2253-08		26432481	109102266	16	45249											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396278	118396279	+	RNA	INS	-	-	T																															gactaacagacaaattatggINSttttttttttccactagagt																								rs11197776	by1000genomes	TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr10:118396278_118396279insT	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		ACAAATTATGGTTTTTTTTTTC	0.426													T	118396279	-	T	118396278	6	5	491	0	1	1	1	0	0	0	0	0	12228	1276	44	0		0	PNLIPRP2	10	118396278	RNA	INS	-	TCGA-FG-8191-01A-11D-2253-08	91963797	118396278	17138469	17	45250											
SPDYC	387778	broad.mit.edu	37	chr11	64939962	64939962	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaatgtgagatttttccAtgggccctgggaaaagattg	11	11	11	8	0	0	2	0	1	0	2	1	4	1	3	3	2	0	0	3	2	3	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:64939962A>G	ENST00000377185.2	+	5	484	c.402A>G	c.(400-402)ccA>ccG	p.P134P		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	134	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						AGATTTTTCCATGGGCCCTGG	0.562													G	64939962	A	G	64939962	2	3	491	1	0	0	0	0	0	0	0	1	15124	204	8	3		3	SPDYC	11	64939962	Silent	SNP	A	TCGA-FG-8191-01A-11D-2253-08		64939962	70066554	18	45251											
MTNR1B	4544	broad.mit.edu	37	chr11	92714797	92714797	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatatcactgccatcgccatTaaccgctactgctacatctg	11	11	5	14	2	2	0	1	0	1	0	3	0	2	0	3	0	5	2	3	0	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr11:92714797T>C	ENST00000257068.2	+	2	414	c.408T>C	c.(406-408)atT>atC	p.I136I		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	136					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	CCATCGCCATTAACCGCTACT	0.607													C	92714797	T	C	92714797	2	2	491	1	0	0	0	0	0	0	0	1	10028	1742	61	3		3	MTNR1B	11	92714797	Silent	SNP	T	TCGA-FG-8191-01A-11D-2253-08	27774835	92714797	42291719	19	45252											
EML5	161436	broad.mit.edu	37	chr14	89093251	89093251	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctcagtagcccttttttGctaagaagagctcttcctgc	7	14	9	11	0	2	2	1	0	1	2	3	2	3	2	2	0	5	4	2	0	3	6			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr14:89093251G>C	ENST00000554922.1	-	35	4919	c.4671C>G	c.(4669-4671)agC>agG	p.S1557R	EML5_ENST00000553320.1_5'UTR|EML5_ENST00000380664.5_Missense_Mutation_p.S1549R|EML5_ENST00000352093.5_Missense_Mutation_p.S1511R	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	1549						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GCCCTTTTTTGCTAAGAAGAG	0.463													C	89093251	G	C	89093251	3	2	491	1	0	0	0	0	1	0	0	0	5141	1310	46	4	1302	4	EML5	14	89093251	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		89093251	18256289	20	45253											
ARHGAP11A	9824	broad.mit.edu	37	chr15	32917835	32917835	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaagacaaagtgtaggagGtaagtggcggtcccatttta	13	9	14	5	1	0	2	0	0	0	2	1	4	1	3	1	4	0	2	1	4	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr15:32917835G>C	ENST00000361627.3	+	6	1584		c.e6+1		ARHGAP11A_ENST00000563864.1_Splice_Site|ARHGAP11A_ENST00000567348.1_Splice_Site|ARHGAP11A_ENST00000543522.1_Splice_Site|ARHGAP11A_ENST00000565905.1_Splice_Site	NM_014783.3	NP_055598.1	Q6P4F7	RHGBA_HUMAN	Rho GTPase activating protein 11A						regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		all_lung(180;1.3e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)		AGTGTAGGAGGTAAGTGGCGG	0.408													C	32917835	G	C	32917835	5	2	491	1	0	0	0	0	0	0	1	0	866	1275	44	4	885	4	ARHGAP11A	15	32917835	Splice_Site	SNP	G	TCGA-FG-8191-01A-11D-2253-08		32917835	69613557	21	45254											
SF3B3	23450	broad.mit.edu	37	chr16	70594469	70594469	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtcctgtgaagctcttccGagtccgaatgcaaggccagg	8	8	12	13	3	1	1	0	1	1	0	4	3	4	1	5	2	2	2	5	2	3	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr16:70594469G>A	ENST00000302516.5	+	16	2319	c.2108G>A	c.(2107-2109)cGa>cAa	p.R703Q		NM_012426.4	NP_036558.3	Q15393	SF3B3_HUMAN	splicing factor 3b, subunit 3, 130kDa	703					protein complex assembly	catalytic step 2 spliceosome|nucleoplasm|small nuclear ribonucleoprotein complex|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(2)|endometrium(8)|kidney(2)|large_intestine(8)|liver(3)|lung(21)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	53		Ovarian(137;0.0694)				AAGCTCTTCCGAGTCCGAATG	0.522													A	70594469	G	A	70594469	3	1	491	1	0	0	0	0	1	0	0	0	14245	1058	37	1	2166	1	SF3B3	16	70594469	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		70594469	19760284	22	45255											
TP53	7157	broad.mit.edu	37	chr17	7579350	7579350	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgtcccagaatgcaagaAgcccagacggaaaccgtagc	13	4	12	12	2	0	3	0	0	0	3	1	4	1	4	3	2	4	3	3	2	5	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:7579350A>C	ENST00000420246.2	-	4	469	c.337T>G	c.(337-339)Ttc>Gtc	p.F113V	TP53_ENST00000413465.2_Missense_Mutation_p.F113V|TP53_ENST00000445888.2_Missense_Mutation_p.F113V|TP53_ENST00000455263.2_Missense_Mutation_p.F113V|TP53_ENST00000359597.4_Missense_Mutation_p.F113V|TP53_ENST00000269305.4_Missense_Mutation_p.F113V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	113	Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> C (in sporadic cancers; somatic mutation).|F -> G (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|F -> I (in a sporadic cancer; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (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.0?(8)|p.F113V(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.G112fs*9(1)|p.Y107fs*44(1)|p.G112_S116delGFLHS(1)|p.P13fs*18(1)|p.S33fs*23(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)		GAATGCAAGAAGCCCAGACGG	0.607		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)			C	7579350	A	C	7579350	3	2	491	1	0	0	0	0	1	0	0	0	16482	72	3	5	965	5	TP53	17	7579350	Missense_Mutation	SNP	A	TCGA-FG-8191-01A-11D-2253-08		7579350	73615860	23	45256											
MYH10	4628	broad.mit.edu	37	chr17	8397110	8397110	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctggcctcctcctcctcctCctgctgctcctgaagactgt	3	12	7	19	0	0	2	0	1	0	1	6	2	6	2	8	1	2	2	8	1	1	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:8397110C>G	ENST00000360416.3	-	32	4288	c.4150G>C	c.(4150-4152)Gag>Cag	p.E1384Q	MYH10_ENST00000379980.4_Missense_Mutation_p.E1369Q|MYH10_ENST00000396239.1_Missense_Mutation_p.E1374Q|MYH10_ENST00000269243.4_Missense_Mutation_p.E1353Q	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1353					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCCTCCTCCTCCTGCTGCTCC	0.587													G	8397110	C	G	8397110	3	3	491	1	0	0	0	0	1	0	0	0	10106	864	30	4	1921	4	MYH10	17	8397110	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	817760	8397110	72798100	24	45257											
MFAP4	4239	broad.mit.edu	37	chr17	19290401	19290401	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catagtgccctctgtggccaGgggcctctggagtgggctca	5	9	15	12	0	3	0	1	0	2	0	3	1	3	1	3	5	1	1	3	5	1	1			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:19290401G>A	ENST00000395592.2	-	1	102	c.31C>T	c.(31-33)Ctg>Ttg	p.L11L	MFAP4_ENST00000299610.4_Intron	NM_001198695.1	NP_001185624.1	P55083	MFAP4_HUMAN	microfibrillar-associated protein 4	0					cell adhesion|signal transduction	microfibril	receptor binding			large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	10	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					TCTGTGGCCAGGGGCCTCTGG	0.597													A	19290401	G	A	19290401	2	1	491	1	0	0	0	0	0	0	0	1	9592	1015	35	2		2	MFAP4	17	19290401	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	10893291	19290401	61904809	25	45258											
GPATCH8	23131	broad.mit.edu	37	chr17	42483311	42483311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcagcttgttttctttgctCtgccaactcatggagccgcc	5	15	8	13	1	4	0	2	0	2	0	4	1	4	1	3	1	5	3	3	1	1	5			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:42483311C>G	ENST00000434000.1	-	8	649	c.367G>C	c.(367-369)Gag>Cag	p.E123Q	GPATCH8_ENST00000591680.1_Missense_Mutation_p.E201Q			Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	201						intracellular	nucleic acid binding|zinc ion binding			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		TTTCTTTGCTCTGCCAACTCA	0.368													G	42483311	C	G	42483311	3	3	491	1	0	0	0	0	1	0	0	0	6648	922	32	4	3915	4	GPATCH8	17	42483311	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08	23192910	42483311	38711899	26	45259											
PRKCA	5578	broad.mit.edu	37	chr17	64738870	64738870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggactccagattatatcGccccagaggtaggaacccca	11	7	11	12	1	0	2	0	0	0	2	2	4	1	4	5	3	1	1	5	3	4	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:64738870G>A	ENST00000413366.3	+	13	1542	c.1516G>A	c.(1516-1518)Gcc>Acc	p.A506T		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	506	Protein kinase.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	AGATTATATCGCCCCAGAGGT	0.488													A	64738870	G	A	64738870	3	1	491	1	0	0	0	0	1	0	0	0	12593	1087	38	1	1566	1	PRKCA	17	64738870	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	22255559	64738870	16456340	27	45260											
EXOC7	23265	broad.mit.edu	37	chr17	74084888	74084888	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcaggcttggtctgcttGaggtgtcgcaggatggggaa	8	10	16	7	1	2	1	1	1	1	0	3	3	2	3	0	6	2	3	0	6	2	2			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr17:74084888G>T	ENST00000607838.1	-	10	1327	c.1233C>A	c.(1231-1233)ctC>ctA	p.L411L	EXOC7_ENST00000411744.2_Silent_p.L380L|EXOC7_ENST00000467929.2_Silent_p.L347L|EXOC7_ENST00000405575.4_Silent_p.L411L|EXOC7_ENST00000589210.1_Silent_p.L388L|EXOC7_ENST00000332065.5_Silent_p.L357L|EXOC7_ENST00000335146.7_Silent_p.L439L	NM_001145297.2|NM_001145298.2|NM_001145299.2	NP_001138769.1|NP_001138770.1|NP_001138771.1	Q9UPT5	EXOC7_HUMAN	exocyst complex component 7	439					exocytosis|protein transport	centriolar satellite|cytosol|exocyst|plasma membrane	protein binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	14			LUSC - Lung squamous cell carcinoma(166;0.187)			TGGTCTGCTTGAGGTGTCGCA	0.612													T	74084888	G	T	74084888	2	4	491	1	0	0	0	0	0	0	0	1	5351	1277	45	4		4	EXOC7	17	74084888	Silent	SNP	G	TCGA-FG-8191-01A-11D-2253-08	9346018	74084888	7110322	28	45261											
KLHL14	57565	broad.mit.edu	37	chr18	30322013	30322013	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcttgttagagcgaattCttcacccaaaacaaaagagg	14	12	7	8	1	3	2	1	0	2	2	3	3	3	2	1	1	2	1	1	1	6	6			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr18:30322013C>A	ENST00000359358.4	-	3	1386		c.e3-1		KLHL14_ENST00000358095.4_Splice_Site	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14							cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGAGCGAATTCTTCACCCAAA	0.433													A	30322013	C	A	30322013	5	1	491	1	0	0	0	0	0	0	1	0	8428	927	32	4	967	4	KLHL14	18	30322013	Splice_Site	SNP	C	TCGA-FG-8191-01A-11D-2253-08		30322013	47755235	29	45262											
PSG1	5669	broad.mit.edu	37	chr19	43382350	43382350	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagtagaagaacatcctTcccctcggaaactttggttg	12	10	9	10	1	0	2	0	0	0	2	3	4	2	3	3	2	2	2	3	2	5	4			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:43382350T>C	ENST00000244296.2	-	2	282	c.145A>G	c.(145-147)Aag>Gag	p.K49E	PSG1_ENST00000403380.3_Missense_Mutation_p.K49E|PSG1_ENST00000595124.1_Missense_Mutation_p.K49E|PSG1_ENST00000595356.1_Missense_Mutation_p.K49E|PSG1_ENST00000312439.6_Missense_Mutation_p.K49E|PSG1_ENST00000601073.1_5'UTR|PSG1_ENST00000436291.2_Missense_Mutation_p.K49E	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				AGAACATCCTTCCCCTCGGAA	0.473													C	43382350	T	C	43382350	3	2	491	1	0	0	0	0	1	0	0	0	12738	1792	62	3	1187	3	PSG1	19	43382350	Missense_Mutation	SNP	T	TCGA-FG-8191-01A-11D-2253-08		43382350	15746633	30	45263											
ZNF761	388561	broad.mit.edu	37	chr19	53958931	53958931	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatgagtgtggcaagacCtttagtcacaagtcatccct	11	12	9	9	0	2	2	2	1	0	1	3	2	3	2	2	1	0	2	2	1	4	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr19:53958931C>G	ENST00000454407.1	+	0	1623							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		GTGGCAAGACCTTTAGTCACA	0.408													G	53958931	C	G	53958931	1	3	491	0	1	0	0	0	0	0	0	0	18236	668	24	4		4	ZNF761	19	53958931	RNA	SNP	C	TCGA-FG-8191-01A-11D-2253-08	10576581	53958931	5170052	31	45264											
CHGB	1114	broad.mit.edu	37	chr20	5902992	5902992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattataggtagaaaagacGtcaaagacaaagagacaact	20	7	8	6	1	2	4	2	0	0	4	2	5	2	4	0	1	1	1	0	1	8	3			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chr20:5902992G>A	ENST00000378961.4	+	4	406	c.202G>A	c.(202-204)Gtc>Atc	p.V68I		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	68						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						TAGAAAAGACGTCAAAGACAA	0.408													A	5902992	G	A	5902992	3	1	491	1	0	0	0	0	1	0	0	0	3369	1145	40	1	216	1	CHGB	20	5902992	Missense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08		5902992	57122528	32	45265											
CDK16	5127	broad.mit.edu	37	chrX	47082981	47082981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggatgaagaagatcaaaCggcagctgtcaatgacactc	15	7	10	9	2	2	4	2	2	0	2	4	5	2	5	0	2	2	2	0	2	4	0			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:47082981C>T	ENST00000457458.2	+	2	463	c.43C>T	c.(43-45)Cgg>Tgg	p.R15W	CDK16_ENST00000276052.6_Missense_Mutation_p.R83W|CDK16_ENST00000518022.1_Missense_Mutation_p.R9W|CDK16_ENST00000357227.4_Missense_Mutation_p.R9W	NM_033018.3	NP_148978.2	Q00536	CDK16_HUMAN	cyclin-dependent kinase 16	9							ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(3)	11						GAAGATCAAACGGCAGCTGTC	0.532													T	47082981	C	T	47082981	3	4	491	1	0	0	0	0	1	0	0	0	3162	527	19	1	269	1	CDK16	23	47082981	Missense_Mutation	SNP	C	TCGA-FG-8191-01A-11D-2253-08		47082981	108187579	33	45266											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-FG-8191-01A-11D-2253-08	TCGA-FG-8191-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fcc461af-d70d-4fca-ae7f-3f09367b6d51	6a19fe53-192d-492a-98ba-54d24a6f3574	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909629	G	A	76909629	4	1	491	1	0	0	0	0	0	1	0	0	1213	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-FG-8191-01A-11D-2253-08	29826648	76909629	78360931	34	45267											
LDLRAP1	26119	broad.mit.edu	37	chr1	25881422	25881422	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggaattatcctgacagaCaacctcaccaaccagctcat	13	7	7	14	1	2	2	2	1	0	1	3	3	3	3	4	2	3	1	4	2	4	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:25881422C>A	ENST00000374338.4	+	3	422	c.303C>A	c.(301-303)gaC>gaA	p.D101E	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	101	PID.				amyloid precursor protein metabolic process|cholesterol homeostasis|cholesterol metabolic process|positive regulation of receptor-mediated endocytosis|receptor internalization|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport|regulation of establishment of protein localization in plasma membrane|regulation of protein binding	basal plasma membrane|cytosol|early endosome|internal side of plasma membrane|neurofilament|recycling endosome	beta-amyloid binding|clathrin binding|low-density lipoprotein particle receptor binding|phosphatidylinositol-4,5-bisphosphate binding|phosphotyrosine binding|protein binding, bridging|protein complex binding|receptor signaling complex scaffold activity|signaling adaptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TCCTGACAGACAACCTCACCA	0.557													A	25881422	C	A	25881422	3	1	492	1	0	0	0	0	1	0	0	0	8767	477	17	4	313	4	LDLRAP1	1	25881422	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		25881422	223369199	1	45268											
OR6F1	343169	broad.mit.edu	37	chr1	247875306	247875306	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactgtggacccatacCaaatgagcaccacggtgaga	15	5	11	10	1	0	2	0	2	0	1	0	5	0	4	3	3	3	1	3	3	4	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr1:247875306C>T	ENST00000302084.2	-	1	799	c.752G>A	c.(751-753)tGg>tAg	p.W251*	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005286.1	NP_001005286.1	Q8NGZ6	OR6F1_HUMAN	olfactory receptor, family 6, subfamily F, member 1	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(1)|large_intestine(5)|lung(34)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)	47	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.0168)			GGACCCATACCAAATGAGCAC	0.532													T	247875306	C	T	247875306	4	4	492	1	0	0	0	0	0	1	0	0	11277	595	21	2	178	2	OR6F1	1	247875306	Nonsense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08	221993884	247875306	1375315	2	45269											
TTN	7273	broad.mit.edu	37	chr2	179481731	179481731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaatgcacttaaatccattGttggttcaactacaaagaag	16	12	6	7	0	1	1	1	0	0	1	2	1	2	1	1	1	3	3	1	1	8	6			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:179481731G>A	ENST00000589042.1	-	256	48109	c.47885C>T	c.(47884-47886)aCa>aTa	p.T15962I	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T6897I|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T7022I|TTN_ENST00000342175.6_Missense_Mutation_p.T7089I|TTN_ENST00000591111.1_Missense_Mutation_p.T14321I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.4_ENST00000605334.1_lincRNA|TTN_ENST00000342992.6_Missense_Mutation_p.T13394I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	14321	Fibronectin type-III 16.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAATCCATTGTTGGTTCAAC	0.408													A	179481731	G	A	179481731	3	1	492	1	0	0	0	0	1	0	0	0	16837	1377	48	2	60236	2	TTN	2	179481731	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		179481731	63717642	3	45270											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	492	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08	29631381	209113112	34086261	4	45271											
PTPRN	5798	broad.mit.edu	37	chr2	220173962	220173963	+	Frame_Shift_Ins	INS	-	-	C																															gggcactaacggcgctgcagINSccccccgggcggctgctcag																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr2:220173962_220173963insC	ENST00000295718.2	-	1	332_333	c.92_93insG	c.(91-93)ggcfs	p.G31fs	PTPRN_ENST00000409251.3_Frame_Shift_Ins_p.G31fs	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	31					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		CGGCGCTGCAGCCCCCCGGGCG	0.738													C	220173963	-	C	220173962	7	5	492	1	0	1	1	0	0	0	0	0	12895	958	34	0	2938	0	PTPRN	2	220173962	Frame_Shift_Ins	INS	-	TCGA-FG-A4MT-01A-11D-A26M-08	11060850	220173962	23025411	5	45272											
MST1	4485	broad.mit.edu	37	chr3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A																															agggcgcctctgagccgtcgGggttccggcagaagttctcc																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667													A	49723596	G	A	49723596	3	1	492	1	0	0	0	0	1	0	0	0	9966	1232	43	2	1171	2	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		49723596	148298834	6	45273	148	2									
MST1	4485	broad.mit.edu	37	chr3	49723603	49723603	+	Missense_Mutation	SNP	G	G	A																															ctctgagccgtcggggttccGgcagaagttctcccgaaggt																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr3:49723603G>A	ENST00000449682.2	-	9	1400	c.1039C>T	c.(1039-1041)Cgg>Tgg	p.R347W	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	333	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.R333W(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCGGGGTTCCGGCAGAAGTTC	0.662													A	49723603	G	A	49723603	3	1	492	1	0	0	0	0	1	0	0	0	9966	1115	39	1	1178	1	MST1	3	49723603	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	7	49723603	148298827	7	45274	148	2									
INPP4B	8821	broad.mit.edu	37	chr4	143191848	143191848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacatctgtggtgatgtggtCggcttccccatcctcaatct	6	14	9	12	1	3	1	1	1	2	0	6	1	5	1	3	3	1	1	3	3	2	2			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr4:143191848C>T	ENST00000513000.1	-	11	1016	c.583G>A	c.(583-585)Gac>Aac	p.D195N	INPP4B_ENST00000262992.4_Missense_Mutation_p.D195N|INPP4B_ENST00000509777.1_Missense_Mutation_p.D195N|INPP4B_ENST00000508116.1_Missense_Mutation_p.D195N|INPP4B_ENST00000308502.4_Missense_Mutation_p.D195N	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	195					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					GTGATGTGGTCGGCTTCCCCA	0.443													T	143191848	C	T	143191848	3	4	492	1	0	0	0	0	1	0	0	0	7811	884	31	1	2259	1	INPP4B	4	143191848	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		143191848	47962428	8	45275											
DSP	1832	broad.mit.edu	37	chr6	7580531	7580531	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagtttgagaccgagAtcaacatcaccaagaccacc	17	6	6	12	1	3	3	3	1	0	3	3	5	3	3	4	0	1	1	4	0	4	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr6:7580531A>T	ENST00000379802.3	+	23	4449	c.4108A>T	c.(4108-4110)Atc>Ttc	p.I1370F	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1370	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGAGACCGAGATCAACATCAC	0.463													T	7580531	A	T	7580531	3	4	492	1	0	0	0	0	1	0	0	0	4820	333	12	5	4198	5	DSP	6	7580531	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08		7580531	163534536	9	45276											
UBD	10537	broad.mit.edu	37	chr6	29523936	29523936	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttcagggtaaggtggatGgtcttctctttgtcaatgcc	7	15	11	8	0	4	0	2	0	2	0	5	1	4	1	1	4	1	1	1	4	2	4			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr6:29523936G>T	ENST00000377050.4	-	2	442	c.219C>A	c.(217-219)acC>acA	p.T73T	GABBR1_ENST00000355973.3_3'UTR	NM_006398.3	NP_006389.2	O15205	UBD_HUMAN	ubiquitin D	73	Ubiquitin 1.				aggresome assembly|myeloid dendritic cell differentiation|negative regulation of mitotic prometaphase|positive regulation of apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	aggresome|cytoplasm|nucleus	proteasome binding			kidney(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						TAAGGTGGATGGTCTTCTCTT	0.522													T	29523936	G	T	29523936	2	4	492	1	0	0	0	0	0	0	0	1	16945	1335	47	4		4	UBD	6	29523936	Silent	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	21943405	29523936	141591131	10	45277											
TRRAP	8295	broad.mit.edu	37	chr7	98508848	98508848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaagaaatcttccaaactaCggtcccttatatggtggaga	14	10	8	9	1	1	2	0	0	1	2	3	3	3	2	2	3	2	0	2	3	6	4			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr7:98508848C>T	ENST00000359863.4	+	17	2170	c.1961C>T	c.(1960-1962)aCg>aTg	p.T654M	TRRAP_ENST00000446306.3_Missense_Mutation_p.T653M|TRRAP_ENST00000355540.3_Missense_Mutation_p.T654M	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	654					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TTCCAAACTACGGTCCCTTAT	0.368													T	98508848	C	T	98508848	3	4	492	1	0	0	0	0	1	0	0	0	16702	536	19	1	2023	1	TRRAP	7	98508848	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		98508848	60629815	11	45278											
ZNF503	84858	broad.mit.edu	37	chr10	77159074	77159074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggacttcagcgccgcagcCgcagcagccggatcatgtgc	7	5	13	16	5	2	0	2	0	0	0	2	2	2	2	4	2	5	3	4	2	0	1			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:77159074C>T	ENST00000372524.4	-	2	1860	c.1374G>A	c.(1372-1374)gcG>gcA	p.A458A	ZNF503_ENST00000535216.1_Silent_p.A458A|RP11-399K21.11_ENST00000418818.2_lincRNA	NM_032772.4	NP_116161.2	Q96F45	ZN503_HUMAN	zinc finger protein 503	458	Ala-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			lung(4)|ovary(1)|skin(1)	6	all_cancers(46;0.105)|all_epithelial(25;0.00449)|Prostate(51;0.0112)|Ovarian(15;0.088)					GCGCCGCAGCCGCAGCAGCCG	0.701													T	77159074	C	T	77159074	2	4	492	1	0	0	0	0	0	0	0	1	18052	639	23	1		1	ZNF503	10	77159074	Silent	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		77159074	58375673	12	45279											
PPRC1	23082	broad.mit.edu	37	chr10	103899573	103899573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagggaggtcgtggagccGgtggtgcccaaggagcctca	7	5	17	12	2	1	0	1	0	0	0	2	3	1	3	4	6	3	0	4	6	1	0			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:103899573G>A	ENST00000278070.2	+	5	1347	c.1308G>A	c.(1306-1308)ccG>ccA	p.P436P	PPRC1_ENST00000413464.2_Silent_p.P436P	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	436	Necessary for interaction with CREB1 and NRF1 and for transcriptional coactivation.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		TCGTGGAGCCGGTGGTGCCCA	0.577													A	103899573	G	A	103899573	2	1	492	1	0	0	0	0	0	0	0	1	12492	1103	39	1		1	PPRC1	10	103899573	Silent	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	26740499	103899573	31635174	13	45280											
DUSP5	1847	broad.mit.edu	37	chr10	112269864	112269864	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatctgcatggcttaccttAtgaagaccaagcagttccgc	10	10	8	13	1	1	2	0	1	1	1	2	2	2	2	4	1	3	4	4	1	4	3			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr10:112269864A>G	ENST00000369583.3	+	4	1119	c.835A>G	c.(835-837)Atg>Gtg	p.M279V	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	279	Tyrosine-protein phosphatase.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGCTTACCTTATGAAGACCAA	0.552													G	112269864	A	G	112269864	3	3	492	1	0	0	0	0	1	0	0	0	4867	449	16	3	849	3	DUSP5	10	112269864	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08	8370291	112269864	23264883	14	45281											
PACS1	55690	broad.mit.edu	37	chr11	65838059	65838061	+	In_Frame_Del	DEL	GCA	GCA	-																															tcccctcagcagccgccgccGcagcagcagcagcagcagcc																								rs75352646		TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr11:65838059_65838061delGCA	ENST00000320580.4	+	1	135_137	c.102_104delGCA	c.(100-105)ccgcag>ccg	p.Q40del		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	40	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						agccgccgccgcagcagcagcag	0.793													-	65838061	GCA	-	65838059	7	5	492	1	0	1	0	1	0	0	0	0	11448	1074	38	0	104	0	PACS1	11	65838059	In_Frame_Del	DEL	GCA	TCGA-FG-A4MT-01A-11D-A26M-08		65838059	69168457	15	45282											
ADRBK1	156	broad.mit.edu	37	chr11	67050273	67050273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaagcatgagatcgaccGcatgacgctgacgatggtgg	12	6	14	9	4	0	4	0	3	0	2	1	7	0	4	1	2	1	3	1	2	1	0			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr11:67050273G>A	ENST00000308595.5	+	14	1501	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ADRBK1_ENST00000526285.1_Intron|ADRBK1_ENST00000527176.1_3'UTR	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	404	Protein kinase.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GAGATCGACCGCATGACGCTG	0.602													A	67050273	G	A	67050273	3	1	492	1	0	0	0	0	1	0	0	0	343	1087	38	1	1265	1	ADRBK1	11	67050273	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	1212214	67050273	67956243	16	45283											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	A																															agcagcgctcatggtgggggCagcgcctcacaacctccgtc																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578403C>A	ENST00000420246.2	-	5	659	c.527G>T	c.(526-528)tGc>tTc	p.C176F	TP53_ENST00000413465.2_Missense_Mutation_p.C176F|TP53_ENST00000455263.2_Missense_Mutation_p.C176F|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176F|TP53_ENST00000359597.4_Missense_Mutation_p.C176F|TP53_ENST00000445888.2_Missense_Mutation_p.C176F	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	0.652		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)			A	7578403	C	A	7578403	3	1	492	1	0	0	0	0	1	0	0	0	16482	710	25	4	771	4	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FG-A4MT-01A-11D-A26M-08		7578403	73616807	17	45284	149	2									
TP53	7157	broad.mit.edu	37	chr17	7578412	7578412	+	Missense_Mutation	SNP	A	A	G																															catggtgggggcagcgcctcAcaacctccgtcatgtgctgt																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr17:7578412A>G	ENST00000420246.2	-	5	650	c.518T>C	c.(517-519)gTg>gCg	p.V173A	TP53_ENST00000413465.2_Missense_Mutation_p.V173A|TP53_ENST00000455263.2_Missense_Mutation_p.V173A|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.V173A|TP53_ENST00000359597.4_Missense_Mutation_p.V173A|TP53_ENST00000445888.2_Missense_Mutation_p.V173A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173A(12)|p.0?(8)|p.V173G(6)|p.V173fs*7(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V173E(1)|p.V41fs*7(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.V172_R174delVVR(1)|p.P151_V173del23(1)|p.V173fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V173W(1)|p.S149fs*72(1)|p.V80fs*7(1)|p.V172_E180delVVRRCPHHE(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)		GCAGCGCCTCACAACCTCCGT	0.662		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)			G	7578412	A	G	7578412	3	3	492	1	0	0	0	0	1	0	0	0	16482	159	6	3	780	3	TP53	17	7578412	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08	9	7578412	73616798	18	45285	149	2									
LAMA3	3909	broad.mit.edu	37	chr18	21426422	21426422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcccaacgtcatcgggcGgcagtgcacccgctgtgcaa	8	5	12	16	4	1	0	1	0	0	0	2	0	1	0	3	2	4	4	3	2	2	0			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr18:21426422G>A	ENST00000313654.9	+	31	4122	c.3881G>A	c.(3880-3882)cGg>cAg	p.R1294Q	LAMA3_ENST00000399516.3_Missense_Mutation_p.R1294Q	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1294	Domain III B.|Laminin EGF-like 9.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GTCATCGGGCGGCAGTGCACC	0.652													A	21426422	G	A	21426422	3	1	492	1	0	0	0	0	1	0	0	0	8666	1116	39	1	4003	1	LAMA3	18	21426422	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08		21426422	56650826	19	45286											
MUC16	94025	broad.mit.edu	37	chr19	9084692	9084692	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagaagctatggaggtgtTgatcagatcagaagaagaac	16	8	13	4	0	2	7	2	2	0	5	2	8	2	8	0	2	2	2	0	2	6	2			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr19:9084692T>C	ENST00000397910.4	-	1	7326	c.7123A>G	c.(7123-7125)Aac>Gac	p.N2375D		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2375	Ser-rich.|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						ATGGAGGTGTTGATCAGATCA	0.438													C	9084692	T	C	9084692	3	2	492	1	0	0	0	0	1	0	0	0	10049	1812	63	3	36736	3	MUC16	19	9084692	Missense_Mutation	SNP	T	TCGA-FG-A4MT-01A-11D-A26M-08		9084692	50044291	20	45287											
MPPED1	758	broad.mit.edu	37	chr22	43870673	43870673	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaccacgagctgacctttgAccaggagttcatggccgacc	10	7	10	14	2	1	2	1	2	0	0	1	5	1	3	5	2	2	2	5	2	1	2			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chr22:43870673A>G	ENST00000417669.2	+	4	908	c.464A>G	c.(463-465)gAc>gGc	p.D155G	MPPED1_ENST00000439548.1_5'UTR|MPPED1_ENST00000542779.1_Missense_Mutation_p.D155G|MPPED1_ENST00000443721.1_Missense_Mutation_p.D155G|MPPED1_ENST00000538182.1_Missense_Mutation_p.D188G|MPPED1_ENST00000414469.2_Missense_Mutation_p.D49G			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CTGACCTTTGACCAGGAGTTC	0.552													G	43870673	A	G	43870673	3	3	492	1	0	0	0	0	1	0	0	0	9817	275	10	3	474	3	MPPED1	22	43870673	Missense_Mutation	SNP	A	TCGA-FG-A4MT-01A-11D-A26M-08		43870673	7433893	21	45288											
ATRX	546	broad.mit.edu	37	chrX	76855014	76855017	+	Frame_Shift_Del	DEL	CTAT	CTAT	-																															tgccacttccacttgagctaCtatcttttttcccctttttc																										TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:76855014_76855017delCTAT	ENST00000373344.5	-	25	6033_6036	c.5819_5822delATAG	c.(5818-5823)gatagtfs	p.DS1940fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.DS1902fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1940					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.D1940fs*14(1)|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)	ACTTGAGCTACTATCTTTTTTCCC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76855017	CTAT	-	76855014	7	5	492	1	0	1	0	1	0	0	0	0	1213	565	20	0	1700	0	ATRX	23	76855014	Frame_Shift_Del	DEL	CTAT	TCGA-FG-A4MT-01A-11D-A26M-08		76855014	78415546	22	45289											
SPANXD	64648	broad.mit.edu	37	chrX	140785682	140785682	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctcctccatttggaggggGttgattctgttctttcgggc	3	16	12	10	1	2	1	0	1	2	0	6	2	5	2	3	4	0	2	3	4	0	5			TCGA-FG-A4MT-01A-11D-A26M-08	TCGA-FG-A4MT-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	651240cb-278a-4479-ac97-4de66ea9f10e	8c0d356e-7bf2-4c23-be12-acf5907f9be7	g.chrX:140785682G>T	ENST00000370515.3	-	2	567	c.234C>A	c.(232-234)aaC>aaA	p.N78K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					TTTGGAGGGGGTTGATTCTGT	0.448													T	140785682	G	T	140785682	3	4	492	1	0	0	0	0	1	0	0	0	15084	1252	44	4	63	4	SPANXD	23	140785682	Missense_Mutation	SNP	G	TCGA-FG-A4MT-01A-11D-A26M-08	63930668	140785682	14484878	23	45290											
SPAG17	200162	broad.mit.edu	37	chr1	118516183	118516183	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgggctcataagattctgcTtctgttagagagaaagctta	12	12	10	7	1	3	3	1	0	2	3	3	4	3	3	0	1	2	4	0	1	4	5			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:118516183T>C	ENST00000336338.5	-	44	6071	c.6006A>G	c.(6004-6006)gaA>gaG	p.E2002E	SPAG17_ENST00000492438.1_5'UTR	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	2002						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		AAGATTCTGCTTCTGTTAGAG	0.378													C	118516183	T	C	118516183	5	2	493	1	0	0	0	0	0	0	1	0	15075	1623	56	3	685	3	SPAG17	1	118516183	Splice_Site	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08		118516183	130734438	1	45291											
RUSC1	23623	broad.mit.edu	37	chr1	155296536	155296536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcccctgggcccacCtcaggcccctgcccctccag	4	5	8	24	0	1	0	1	0	0	0	2	0	2	0	11	2	2	0	11	2	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:155296536C>T	ENST00000368352.5	+	8	2178	c.2027C>T	c.(2026-2028)cCt>cTt	p.P676L	RUSC1_ENST00000292254.4_Missense_Mutation_p.P207L|RUSC1_ENST00000368354.3_Intron|RUSC1_ENST00000368349.4_Missense_Mutation_p.P207L|RUSC1_ENST00000462780.1_3'UTR|RUSC1_ENST00000368347.4_Missense_Mutation_p.P266L	NM_001105203.1	NP_001098673.1	Q9BVN2	RUSC1_HUMAN	RUN and SH3 domain containing 1	676						cytoplasm|nucleolus	SH3/SH2 adaptor activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(2)|skin(1)|urinary_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;1.55e-10)|all cancers(21;4.15e-10)|BRCA - Breast invasive adenocarcinoma(34;0.000549)|LUSC - Lung squamous cell carcinoma(543;0.127)			CTGGGCCCACCTCAGGCCCCT	0.657													T	155296536	C	T	155296536	3	4	493	1	0	0	0	0	1	0	0	0	13841	681	24	2	2184	2	RUSC1	1	155296536	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	36780353	155296536	93954085	2	45292											
PCNXL2	80003	broad.mit.edu	37	chr1	233150466	233150466	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccccagggtgcacaGggcgaaggacagagtcacca	10	5	12	14	1	2	1	1	0	1	1	4	3	3	2	4	3	1	1	4	3	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:233150466G>A	ENST00000258229.9	-	28	5131	c.4897C>T	c.(4897-4899)Ctg>Ttg	p.L1633L	PCNXL2_ENST00000344698.2_Silent_p.L285L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				AGGGTGCACAGGGCGAAGGAC	0.542													A	233150466	G	A	233150466	2	1	493	1	0	0	0	0	0	0	0	1	11668	991	35	2		2	PCNXL2	1	233150466	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	77853930	233150466	16100155	3	45293											
OR2T3	343173	broad.mit.edu	37	chr1	248637422	248637422	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatagtgctgctgctcttCggtgcttccttctacaccta	6	15	7	13	1	3	0	1	0	2	0	5	0	4	0	2	1	5	4	2	1	3	6			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248637422C>T	ENST00000359594.2	+	1	796	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGCTGCTCTTCGGTGCTTCCT	0.552													T	248637422	C	T	248637422	2	4	493	1	0	0	0	0	0	0	0	1	11099	883	31	1		1	OR2T3	1	248637422	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	15486956	248637422	613199	4	45294											
OR2T34	127068	broad.mit.edu	37	chr1	248737288	248737288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggtgtagaaggaagcaccGaagagcagcagcactatgat	15	6	13	7	1	0	3	0	1	0	2	0	5	0	4	1	2	4	5	1	2	6	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr1:248737288G>A	ENST00000328782.2	-	1	792	c.771C>T	c.(769-771)ttC>ttT	p.F257F		NM_001001821.1	NP_001001821.1	Q8NGX1	O2T34_HUMAN	olfactory receptor, family 2, subfamily T, member 34	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(6)|lung(28)|ovary(2)|skin(2)|stomach(3)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGAAGCACCGAAGAGCAGCA	0.557													A	248737288	G	A	248737288	2	1	493	1	0	0	0	0	0	0	0	1	11101	1049	37	1		1	OR2T34	1	248737288	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	99866	248737288	513333	5	45295											
VRK2	7444	broad.mit.edu	37	chr2	58358955	58358955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcctatagccttgtccagacGaagtgacgttgagatcctcg	9	11	10	11	3	0	3	0	2	0	2	4	5	3	3	4	0	1	1	4	0	3	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:58358955G>A	ENST00000435505.2	+	12	1434	c.689G>A	c.(688-690)cGa>cAa	p.R230Q	VRK2_ENST00000417641.2_Missense_Mutation_p.R230Q|VRK2_ENST00000340157.4_Missense_Mutation_p.R230Q|VRK2_ENST00000412104.2_Missense_Mutation_p.R230Q|VRK2_ENST00000440705.2_Missense_Mutation_p.R207Q			Q86Y07	VRK2_HUMAN	vaccinia related kinase 2	230	Protein kinase.					integral to membrane	ATP binding|protein binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)	24						TTGTCCAGACGAAGTGACGTT	0.478													A	58358955	G	A	58358955	3	1	493	1	0	0	0	0	1	0	0	0	17322	1058	37	1	719	1	VRK2	2	58358955	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		58358955	184840418	6	45296											
RANBP2	5903	broad.mit.edu	37	chr2	109400287	109400287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catggatactgtgaaaaagaTtgaatcatttggttctccca	13	13	8	7	0	2	3	1	2	1	1	3	4	2	4	1	2	1	1	1	2	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:109400287T>C	ENST00000283195.6	+	29	9731	c.9605T>C	c.(9604-9606)aTt>aCt	p.I3202T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	3202	PPIase cyclophilin-type.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GTGAAAAAGATTGAATCATTT	0.328													C	109400287	T	C	109400287	3	2	493	1	0	0	0	0	1	0	0	0	13116	1493	52	3	9719	3	RANBP2	2	109400287	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	51041332	109400287	133799086	7	45297											
DPP10	57628	broad.mit.edu	37	chr2	116525951	116525951	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaagggggacgtggagaaTttcaccacgtagctatgttc	11	9	13	8	2	1	1	1	0	0	1	2	3	1	2	1	3	2	4	1	3	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:116525951T>A	ENST00000410059.1	+	13	1672	c.1192T>A	c.(1192-1194)Ttt>Att	p.F398I	DPP10_ENST00000310323.8_Missense_Mutation_p.F391I|DPP10_ENST00000409163.1_Missense_Mutation_p.F348I|DPP10_ENST00000393147.2_Missense_Mutation_p.F402I	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	398					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						ACGTGGAGAATTTCACCACGT	0.463													A	116525951	T	A	116525951	3	1	493	1	0	0	0	0	1	0	0	0	4766	1493	52	5	1413	5	DPP10	2	116525951	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	7125664	116525951	126673422	8	45298											
CERKL	375298	broad.mit.edu	37	chr2	182468728	182468728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctgtttaacagaacaaCgccgtttcagtttcacagag	11	12	8	10	2	3	2	2	0	1	2	3	2	3	2	1	0	4	4	1	0	3	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:182468728C>T	ENST00000410087.3	-	2	417	c.317G>A	c.(316-318)cGt>cAt	p.R106H	CERKL_ENST00000479558.1_5'UTR|CERKL_ENST00000409440.3_Missense_Mutation_p.R106H|CERKL_ENST00000374969.2_Missense_Mutation_p.R106H|CERKL_ENST00000339098.5_Missense_Mutation_p.R106H|CERKL_ENST00000374970.2_Missense_Mutation_p.R106H	NM_001030311.2|NM_201548.4	NP_001025482.1|NP_963842.1	Q49MI3	CERKL_HUMAN	ceramide kinase-like	106			R -> S (in RP26).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis	endoplasmic reticulum|Golgi apparatus|nucleolus	diacylglycerol kinase activity	p.R106H(2)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			AACAGAACAACGCCGTTTCAG	0.313													T	182468728	C	T	182468728	3	4	493	1	0	0	0	0	1	0	0	0	3298	536	19	1	1411	1	CERKL	2	182468728	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	65942777	182468728	60730645	9	45299											
CCDC108	255101	broad.mit.edu	37	chr2	219893020	219893020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggtagagcgtcaggcccCgggccaggtgtgtgcggtac	5	6	20	10	3	1	1	1	0	0	1	1	1	1	1	3	6	3	2	3	6	2	2	rs147414922		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:219893020C>T	ENST00000341552.5	-	12	1837	c.1754G>A	c.(1753-1755)cGg>cAg	p.R585Q	CCDC108_ENST00000453220.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000410037.1_Missense_Mutation_p.R520Q|CCDC108_ENST00000441968.1_Missense_Mutation_p.R585Q|CCDC108_ENST00000409865.3_Missense_Mutation_p.R574Q	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	585						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CGTCAGGCCCCGGGCCAGGTG	0.617													T	219893020	C	T	219893020	3	4	493	1	0	0	0	0	1	0	0	0	2769	652	23	1	4119	1	CCDC108	2	219893020	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	37424292	219893020	23306353	10	45300											
SP100	6672	broad.mit.edu	37	chr2	231331885	231331885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtgaggaggaggcgcccGcagaagcctcgagcggggca	9	2	18	12	4	0	2	0	1	0	1	1	5	0	4	3	5	2	2	3	5	1	0	rs144727058		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:231331885G>A	ENST00000264052.5	+	13	1601	c.1246G>A	c.(1246-1248)Gca>Aca	p.A416T	SP100_ENST00000409824.1_Missense_Mutation_p.A391T|SP100_ENST00000427101.2_Missense_Mutation_p.A391T|SP100_ENST00000341950.4_Missense_Mutation_p.A416T|SP100_ENST00000409897.1_Missense_Mutation_p.A381T|SP100_ENST00000340126.4_Missense_Mutation_p.A416T|SP100_ENST00000409341.1_Missense_Mutation_p.A416T|SP100_ENST00000409112.1_Missense_Mutation_p.A416T	NM_003113.3	NP_003104.2	P23497	SP100_HUMAN	SP100 nuclear antigen	416					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|interspecies interaction between organisms|negative regulation of cellular component movement|negative regulation of DNA binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|negative regulation of viral transcription|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to cytokine stimulus|response to retinoic acid|response to type I interferon	cytoplasm|nuclear periphery|nucleolus|PML body	chromo shadow domain binding|DNA binding|identical protein binding|kinase binding|protein homodimerization activity|transcription coactivator activity|transcription corepressor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(4)|upper_aerodigestive_tract(1)	25		Renal(207;0.0112)|all_lung(227;0.0335)|all_hematologic(139;0.0749)|Lung NSC(271;0.142)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGAGGCGCCCGCAGAAGCCTC	0.527													A	231331885	G	A	231331885	3	1	493	1	0	0	0	0	1	0	0	0	15054	1087	38	1	1296	1	SP100	2	231331885	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	11438865	231331885	11867488	11	45301											
UGT1A7	54577	broad.mit.edu	37	chr2	234590757	234590757	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcatgaggtggtcgtagtCatgccagaggtgagttggca	8	9	18	6	1	1	3	1	2	0	1	2	3	1	3	1	5	1	4	1	5	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr2:234590757C>T	ENST00000373426.3	+	1	174	c.174C>T	c.(172-174)gtC>gtT	p.V58V	UGT1A1_ENST00000373450.4_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A10_ENST00000373445.1_Intron	NM_019077.2	NP_061950.2														NS(1)|endometrium(6)|kidney(5)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|prostate(1)|skin(1)	33		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;8.93e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000412)|Lung(119;0.00333)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TGGTCGTAGTCATGCCAGAGG	0.547													T	234590757	C	T	234590757	2	4	493	1	0	0	0	0	0	0	0	1	17052	813	29	2		2	UGT1A7	2	234590757	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	3258872	234590757	8608616	12	45302											
LRRIQ4	344657	broad.mit.edu	37	chr3	169540471	169540471	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatcccgaagagcttcgcCgagctcaggaagatgacgga	11	6	12	12	4	1	3	1	1	0	2	4	7	3	5	3	2	2	2	3	2	2	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:169540471C>T	ENST00000340806.6	+	1	762	c.762C>T	c.(760-762)gcC>gcT	p.A254A		NM_001080460.1	NP_001073929.1	A6NIV6	LRIQ4_HUMAN	leucine-rich repeats and IQ motif containing 4	254										breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30						AGAGCTTCGCCGAGCTCAGGA	0.602													T	169540471	C	T	169540471	2	4	493	1	0	0	0	0	0	0	0	1	9101	639	23	1		1	LRRIQ4	3	169540471	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		169540471	28481959	13	45303											
FAM43A	131583	broad.mit.edu	37	chr3	194408803	194408803	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccaggccgacggcgccagTgcagacgagccccactcggg	7	2	15	17	6	0	1	0	0	0	1	1	3	0	1	5	3	2	1	5	3	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr3:194408803T>C	ENST00000329759.4	+	1	2182	c.1248T>C	c.(1246-1248)agT>agC	p.S416S		NM_153690.4	NP_710157.2	Q8N2R8	FA43A_HUMAN	family with sequence similarity 43, member A	416										breast(2)|central_nervous_system(1)|lung(6)|skin(1)	10	all_cancers(143;2.04e-08)|Ovarian(172;0.0634)	Lung NSC(153;0.147)	OV - Ovarian serous cystadenocarcinoma(49;8.37e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;1.78e-05)		ACGGCGCCAGTGCAGACGAGC	0.751													C	194408803	T	C	194408803	2	2	493	1	0	0	0	0	0	0	0	1	5613	1693	59	3		3	FAM43A	3	194408803	Silent	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	24868332	194408803	3613627	14	45304											
ZNF732	654254	broad.mit.edu	37	chr4	265912	265912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttgtaagatttctctccaGtatgaactttatgtttagca	11	18	6	6	0	1	2	0	1	1	1	3	2	2	2	1	0	2	4	1	0	5	8			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr4:265912G>A	ENST00000419098.1	-	4	744	c.734C>T	c.(733-735)aCt>aTt	p.T245I		NM_001137608.1	NP_001131080.1	B4DXR9	ZN732_HUMAN	zinc finger protein 732	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(2)	3						TTTCTCTCCAGTATGAACTTT	0.368													A	265912	G	A	265912	3	1	493	1	0	0	0	0	1	0	0	0	18224	1029	36	2	1027	2	ZNF732	4	265912	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		265912	190888364	15	45305											
C9	735	broad.mit.edu	37	chr5	39364519	39364519	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactgtgctgtgaggatgctTatttctaaaatgcagattgc	10	15	10	6	0	1	2	0	1	1	1	1	3	1	3	0	1	5	3	0	1	4	5			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:39364519T>A	ENST00000263408.4	-	1	143	c.48A>T	c.(46-48)atA>atT	p.I16I	C9_ENST00000509186.1_Intron	NM_001737.3	NP_001728.1	P02748	CO9_HUMAN	complement component 9	16					complement activation, alternative pathway|complement activation, classical pathway|cytolysis|hemolysis by symbiont of host erythrocytes	extracellular region|membrane attack complex				central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	32	all_lung(31;0.000197)	all_neural(839;7.57e-10)|Lung NSC(810;2.62e-08)|Ovarian(839;0.00384)|Breast(839;0.0184)|Myeloproliferative disorder(839;0.0511)	Epithelial(62;0.158)			TGAGGATGCTTATTTCTAAAA	0.512													A	39364519	T	A	39364519	2	1	493	1	0	0	0	0	0	0	0	1	2469	1744	61	5		5	C9	5	39364519	Silent	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08		39364519	141550741	16	45306											
VCAN	1462	broad.mit.edu	37	chr5	82816827	82816827	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcaactttgagagattctaCaactgaagaaaaagttccac	16	10	7	8	0	2	4	1	2	1	2	3	5	3	4	1	0	3	1	1	0	6	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:82816827C>T	ENST00000265077.3	+	7	3267	c.2702C>T	c.(2701-2703)aCa>aTa	p.T901I	VCAN_ENST00000512590.2_Missense_Mutation_p.T853I|VCAN_ENST00000502527.2_Intron|VCAN_ENST00000342785.4_Missense_Mutation_p.T901I|VCAN_ENST00000343200.5_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	901	GAG-alpha (glucosaminoglycan attachment domain).				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		AGAGATTCTACAACTGAAGAA	0.408													T	82816827	C	T	82816827	3	4	493	1	0	0	0	0	1	0	0	0	17240	478	17	2	2724	2	VCAN	5	82816827	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	43452308	82816827	98098433	17	45307											
GPR98	84059	broad.mit.edu	37	chr5	89933730	89933730	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaggtgatgacataccGgaaatgaatgaaactgtaac	18	8	9	6	1	1	4	1	4	0	0	1	5	1	5	1	2	3	1	1	2	6	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:89933730G>A	ENST00000405460.2	+	11	2301	c.2205G>A	c.(2203-2205)ccG>ccA	p.P735P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	735	Calx-beta 5.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGACATACCGGAAATGAATG	0.353													A	89933730	G	A	89933730	2	1	493	1	0	0	0	0	0	0	0	1	6776	1103	39	1		1	GPR98	5	89933730	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	7116903	89933730	90981530	18	45308											
FBN2	2201	broad.mit.edu	37	chr5	127800539	127800539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacagcacagagtcttcGtgcagacaatgcctgtcagc	10	8	11	12	1	2	2	1	0	1	2	3	2	2	2	1	1	4	3	1	1	1	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr5:127800539G>A	ENST00000508053.1	-	12	1678	c.704C>T	c.(703-705)aCg>aTg	p.T235M	FBN2_ENST00000508989.1_Missense_Mutation_p.T202M|FBN2_ENST00000262464.4_Missense_Mutation_p.T235M			P35556	FBN2_HUMAN	fibrillin 2	235	TB 1.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		CAGAGTCTTCGTGCAGACAAT	0.577													A	127800539	G	A	127800539	3	1	493	1	0	0	0	0	1	0	0	0	5752	1145	40	1	8274	1	FBN2	5	127800539	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	37866809	127800539	53114721	19	45309											
GRM4	2914	broad.mit.edu	37	chr6	34004320	34004320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgctcacccggttggcaggGcaggctgcagatggagcggg	6	5	18	12	3	1	1	1	0	0	1	1	2	1	2	2	6	2	6	2	6	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:34004320G>A	ENST00000538487.2	-	9	2010	c.1567C>T	c.(1567-1569)Ccc>Tcc	p.P523S	GRM4_ENST00000535756.1_Missense_Mutation_p.P390S|GRM4_ENST00000609222.1_Missense_Mutation_p.P390S|GRM4_ENST00000374181.4_Missense_Mutation_p.P523S|GRM4_ENST00000544773.2_Missense_Mutation_p.P354S|GRM4_ENST00000455714.2_Missense_Mutation_p.P383S|GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.P407S	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGTTGGCAGGGCAGGCTGCAG	0.632													A	34004320	G	A	34004320	3	1	493	1	0	0	0	0	1	0	0	0	6854	1203	42	2	1183	2	GRM4	6	34004320	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		34004320	137110747	20	45310											
FGD2	221472	broad.mit.edu	37	chr6	36979617	36979617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcccagagctgcagcggCgcctggacgactggtgaggt	6	7	15	13	3	0	2	0	1	0	1	2	4	2	3	3	4	3	2	3	4	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:36979617C>T	ENST00000274963.8	+	4	685	c.514C>T	c.(514-516)Cgc>Tgc	p.R172C		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	172	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						GCTGCAGCGGCGCCTGGACGA	0.617													T	36979617	C	T	36979617	3	4	493	1	0	0	0	0	1	0	0	0	5882	768	27	1	528	1	FGD2	6	36979617	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2975297	36979617	134135450	21	45311											
COL9A1	1297	broad.mit.edu	37	chr6	70972973	70972973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttgagctccaacttctcCgagttctccctggtcacctt	5	14	6	16	1	3	1	1	1	2	0	7	2	5	1	5	1	2	2	5	1	1	4	rs148011193		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:70972973C>T	ENST00000357250.6	-	19	1527	c.1369G>A	c.(1369-1371)Gga>Aga	p.G457R	COL9A1_ENST00000489611.1_5'UTR|COL9A1_ENST00000370499.4_Missense_Mutation_p.G214R|COL9A1_ENST00000320755.7_Missense_Mutation_p.G214R	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	457	Triple-helical region (COL2).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CCAACTTCTCCGAGTTCTCCC	0.323													T	70972973	C	T	70972973	3	4	493	1	0	0	0	0	1	0	0	0	3738	661	23	1	1476	1	COL9A1	6	70972973	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	33993356	70972973	100142094	22	45312											
SMAP1	60682	broad.mit.edu	37	chr6	71501425	71501425	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgctcctcttcagcctttgGtatcctctccttctctgcaa	5	16	5	15	0	4	0	1	0	3	0	8	0	6	0	4	1	3	3	4	1	2	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:71501425G>T	ENST00000370455.3	+	5	696	c.448G>T	c.(448-450)Gta>Tta	p.V150L	SMAP1_ENST00000316999.5_Intron|SMAP1_ENST00000370452.3_Intron	NM_001044305.1|NM_001281440.1	NP_001037770.1|NP_001268369.1	Q8IYB5	SMAP1_HUMAN	small ArfGAP 1	150					regulation of ARF GTPase activity	plasma membrane	ARF GTPase activator activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(1)	15						TCAGCCTTTGGTATCCTCTCC	0.393													T	71501425	G	T	71501425	3	4	493	1	0	0	0	0	1	0	0	0	14860	1261	44	4	466	4	SMAP1	6	71501425	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	528452	71501425	99613642	23	45313											
KIAA1244	57221	broad.mit.edu	37	chr6	138575103	138575103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccatgcacctgcacaggcGcttcacggacctgatctggt	7	9	10	15	2	2	1	1	1	1	0	3	2	3	2	3	3	2	3	3	3	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr6:138575103G>A	ENST00000251691.4	+	9	918	c.752G>A	c.(751-753)cGc>cAc	p.R251H		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	251					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTGCACAGGCGCTTCACGGAC	0.612													A	138575103	G	A	138575103	3	1	493	1	0	0	0	0	1	0	0	0	8275	1087	38	1	786	1	KIAA1244	6	138575103	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	67073678	138575103	32539964	24	45314											
HOXA6	3203	broad.mit.edu	37	chr7	27187208	27187208	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgttggtagaaacaaggtGaggtgtacgtcttgtccggg	9	11	15	6	2	1	2	0	1	1	1	2	2	2	2	1	4	2	3	1	4	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:27187208G>T	ENST00000222728.3	-	1	185	c.161C>A	c.(160-162)tCa>tAa	p.S54*	HOXA-AS3_ENST00000518947.2_RNA|HOXA-AS3_ENST00000521231.1_RNA|RP1-170O19.23_ENST00000498652.1_RNA|RP1-170O19.22_ENST00000467897.2_RNA|HOXA-AS3_ENST00000521197.1_RNA|HOXA6_ENST00000521478.1_Intron|HOXA-AS3_ENST00000518848.1_RNA	NM_024014.3	NP_076919.1	P31267	HXA6_HUMAN	homeobox A6	54						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|lung(3)|ovary(1)	10						GAAACAAGGTGAGGTGTACGT	0.612													T	27187208	G	T	27187208	4	4	493	1	0	0	0	0	0	1	0	0	7351	1294	45	4	548	4	HOXA6	7	27187208	Nonsense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		27187208	131951455	25	45315											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	493	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	28045835	55233043	103905620	26	45316											
PCLO	27445	broad.mit.edu	37	chr7	82582077	82582077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctacctttggtactgtaCgcaaatcaattacatcacca	12	13	4	12	1	3	0	2	0	1	0	3	0	3	0	2	1	4	3	2	1	6	6			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:82582077C>T	ENST00000333891.9	-	5	8529	c.8192G>A	c.(8191-8193)cGt>cAt	p.R2731H	PCLO_ENST00000423517.2_Missense_Mutation_p.R2731H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGGTACTGTACGCAAATCAAT	0.353													T	82582077	C	T	82582077	3	4	493	1	0	0	0	0	1	0	0	0	11659	536	19	1	7337	1	PCLO	7	82582077	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	27349034	82582077	76556586	27	45317											
TECPR1	25851	broad.mit.edu	37	chr7	97874267	97874267	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	actcccactcccagtgcggcGagggcagtgccaccctgtcc	6	6	11	18	2	0	0	0	0	0	0	3	1	3	0	5	2	2	1	5	2	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:97874267G>C	ENST00000447648.2	-	4	637	c.338C>G	c.(337-339)tCg>tGg	p.S113W	TECPR1_ENST00000379795.3_Missense_Mutation_p.S113W|TECPR1_ENST00000542604.1_Missense_Mutation_p.S34W			Q7Z6L1	TCPR1_HUMAN	tectonin beta-propeller repeat containing 1	113						integral to membrane	protein binding			central_nervous_system(2)|endometrium(8)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CCAGTGCGGCGAGGGCAGTGC	0.617													C	97874267	G	C	97874267	3	2	493	1	0	0	0	0	1	0	0	0	15843	1059	37	4	3251	4	TECPR1	7	97874267	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	15292190	97874267	61264396	28	45318											
GAL3ST4	79690	broad.mit.edu	37	chr7	99758141	99758141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagagtccagccatgccaGaccccactggatgaaggatg	12	5	12	12	0	0	3	0	1	0	2	1	6	1	5	5	2	2	0	5	2	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:99758141G>T	ENST00000360039.4	-	4	1263	c.871C>A	c.(871-873)Ctg>Atg	p.L291M	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.L291M|GAL3ST4_ENST00000426974.2_Missense_Mutation_p.L229M|GAL3ST4_ENST00000411994.1_Silent_p.V189V|GAL3ST4_ENST00000423751.1_Silent_p.V189V	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	291					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCCATGCCAGACCCCACTGG	0.527													T	99758141	G	T	99758141	3	4	493	1	0	0	0	0	1	0	0	0	6254	933	33	4	593	4	GAL3ST4	7	99758141	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	1883874	99758141	59380522	29	45319											
RELN	5649	broad.mit.edu	37	chr7	103163890	103163890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcacatgtctatgcagcCatccccgatatagacattat	12	11	6	12	1	1	1	0	0	1	1	2	2	2	1	3	0	3	2	3	0	4	4	rs150236371	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr7:103163890C>T	ENST00000428762.1	-	47	7597	c.7438G>A	c.(7438-7440)Ggc>Agc	p.G2480S	RELN_ENST00000343529.5_Missense_Mutation_p.G2480S|RELN_ENST00000424685.2_Missense_Mutation_p.G2480S	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2480	EGF-like 6.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCTATGCAGCCATCCCCGATA	0.473													T	103163890	C	T	103163890	3	4	493	1	0	0	0	0	1	0	0	0	13308	594	21	2	3020	2	RELN	7	103163890	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	3405749	103163890	55974773	30	45320											
NUDT18	79873	broad.mit.edu	37	chr8	21965732	21965732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggctcacagtgcagcccCgcctcctccttcacctcccg	4	8	8	21	3	2	0	2	0	0	0	6	0	5	0	7	1	2	2	7	1	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:21965732C>T	ENST00000309188.6	-	4	406	c.288G>A	c.(286-288)gcG>gcA	p.A96A	NUDT18_ENST00000522405.1_Silent_p.A19A|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	96	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		AGTGCAGCCCCGCCTCCTCCT	0.697													T	21965732	C	T	21965732	2	4	493	1	0	0	0	0	0	0	0	1	10811	639	23	1		1	NUDT18	8	21965732	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		21965732	124398290	31	45321											
SOX17	64321	broad.mit.edu	37	chr8	55370802	55370802	+	Nonsense_Mutation	SNP	C	C	A																															cccctgcccctgggccgagtCgctgagccccatcggggaca																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370802C>A	ENST00000297316.4	+	1	308	c.104C>A	c.(103-105)tCg>tAg	p.S35*		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	35					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			TGGGCCGAGTCGCTGAGCCCC	0.741													A	55370802	C	A	55370802	4	1	493	1	0	0	0	0	0	1	0	0	15041	893	31	4	106	4	SOX17	8	55370802	Nonsense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	33405070	55370802	90993220	32	45322	150	2									
SOX17	64321	broad.mit.edu	37	chr8	55370804	55370804	+	Silent	SNP	C	C	T																															cctgcccctgggccgagtcgCtgagccccatcggggacatg																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55370804C>T	ENST00000297316.4	+	1	310	c.106C>T	c.(106-108)Ctg>Ttg	p.L36L		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	36					angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGCCGAGTCGCTGAGCCCCAT	0.746													T	55370804	C	T	55370804	2	4	493	1	0	0	0	0	0	0	0	1	15041	796	28	2		2	SOX17	8	55370804	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2	55370804	90993218	33	45323	150	2									
RP1	6101	broad.mit.edu	37	chr8	55538939	55538939	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagcaaaaacccaaagatTtttatgcaccgcaatctcaa	16	10	5	10	1	1	2	1	1	1	1	2	2	1	2	2	0	3	3	2	0	6	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:55538939T>A	ENST00000220676.1	+	4	2645	c.2497T>A	c.(2497-2499)Ttt>Att	p.F833I		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	833					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACCCAAAGATTTTTATGCACC	0.323													A	55538939	T	A	55538939	3	1	493	1	0	0	0	0	1	0	0	0	13623	1841	64	5	2507	5	RP1	8	55538939	Missense_Mutation	SNP	T	TCGA-FG-A4MU-01B-11D-A289-08	168135	55538939	90825083	34	45324											
GDF6	392255	broad.mit.edu	37	chr8	97156959	97156959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagcgtctggatgatggcGtggttggtgggctccaggtg	5	11	18	7	2	2	1	1	1	1	0	3	2	3	2	1	6	1	2	1	6	0	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:97156959G>A	ENST00000287020.5	-	2	1299	c.1200C>T	c.(1198-1200)caC>caT	p.H400H		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	400					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					GGATGATGGCGTGGTTGGTGG	0.617													A	97156959	G	A	97156959	2	1	493	1	0	0	0	0	0	0	0	1	6373	1136	40	1		1	GDF6	8	97156959	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	41618020	97156959	49207063	35	45325											
COL22A1	169044	broad.mit.edu	37	chr8	139890331	139890331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccccgtggtaggcgagaCgccgggcagccgccttgacc	5	5	15	16	5	0	2	0	1	0	1	0	3	0	2	6	3	2	2	6	3	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:139890331C>T	ENST00000303045.6	-	3	766	c.320G>A	c.(319-321)cGt>cAt	p.R107H	COL22A1_ENST00000435777.1_Missense_Mutation_p.R107H	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	107	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity	p.R107H(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GTAGGCGAGACGCCGGGCAGC	0.721										HNSCC(7;0.00092)			T	139890331	C	T	139890331	3	4	493	1	0	0	0	0	1	0	0	0	3712	536	19	1	4812	1	COL22A1	8	139890331	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	42733372	139890331	6473691	36	45326											
PLEC	5339	broad.mit.edu	37	chr8	144995970	144995970	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccgtggtgtggccctgCgccaaccgctgcagctcctc	4	8	11	18	3	0	0	0	0	0	0	3	0	2	0	6	2	4	3	6	2	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr8:144995970C>T	ENST00000322810.4	-	32	8599	c.8430G>A	c.(8428-8430)gcG>gcA	p.A2810A	PLEC_ENST00000354958.2_Silent_p.A2651A|PLEC_ENST00000527096.1_Silent_p.A2696A|PLEC_ENST00000436759.2_Silent_p.A2700A|PLEC_ENST00000354589.3_Silent_p.A2673A|PLEC_ENST00000356346.3_Silent_p.A2659A|PLEC_ENST00000398774.2_Silent_p.A2641A|PLEC_ENST00000345136.3_Silent_p.A2673A|PLEC_ENST00000357649.2_Silent_p.A2677A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2810	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TGTGGCCCTGCGCCAACCGCT	0.682													T	144995970	C	T	144995970	2	4	493	1	0	0	0	0	0	0	0	1	12129	755	27	1		1	PLEC	8	144995970	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	5105639	144995970	1368052	37	45327											
SUSD3	203328	broad.mit.edu	37	chr9	95838087	95838087	+	Frame_Shift_Del	DEL	T	T	-																															cacgtgcgctaagctgcggcTacccccgcaagcaaccttcc																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:95838087delT	ENST00000375472.3	+	2	146	c.110delT	c.(109-111)ctafs	p.L37fs	SUSD3_ENST00000375469.1_Frame_Shift_Del_p.L24fs	NM_145006.2	NP_659443.1	Q96L08	SUSD3_HUMAN	sushi domain containing 3	37	Sushi.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	13						AAGCTGCGGCTACCCCCGCAA	0.677													-	95838087	T	-	95838087	7	5	493	1	0	1	0	1	0	0	0	0	15505	1522	53	0	116	0	SUSD3	9	95838087	Frame_Shift_Del	DEL	T	TCGA-FG-A4MU-01B-11D-A289-08		95838087	45375344	38	45328											
COL5A1	1289	broad.mit.edu	37	chr9	137701113	137701113	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccagctggccctgtgggtCcccctggagaagacggagat	7	7	15	12	1	0	3	0	0	0	3	2	5	2	3	4	4	1	1	4	4	1	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr9:137701113C>A	ENST00000371817.3	+	43	3865	c.3451C>A	c.(3451-3453)Ccc>Acc	p.P1151T		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1151	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCCTGTGGGTCCCCCTGGAGA	0.632													A	137701113	C	A	137701113	3	1	493	1	0	0	0	0	1	0	0	0	3727	855	30	4	3621	4	COL5A1	9	137701113	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	41863026	137701113	3512318	39	45329											
MUC2	4583	broad.mit.edu	37	chr11	1102176	1102176	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcatcgcctgcacccaCgtgccctgcaacacctcctg	8	7	7	19	3	1	0	1	0	0	0	3	0	2	0	5	0	5	2	5	0	2	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1102176C>T	ENST00000441003.2	+	44	7839	c.7812C>T	c.(7810-7812)caC>caT	p.H2604H		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4966						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCTGCACCCACGTGCCCTGCA	0.617													T	1102176	C	T	1102176	2	4	493	1	0	0	0	0	0	0	0	1	10051	535	19	1		1	MUC2	11	1102176	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		1102176	133904340	40	45330											
TOLLIP	54472	broad.mit.edu	37	chr11	1298448	1298448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccgggggcagggccaCgggcaccatgccggggctac	5	2	20	14	4	0	0	0	0	0	0	0	0	0	0	4	8	2	3	4	8	1	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:1298448C>T	ENST00000527886.1	-	6	819	c.439G>A	c.(439-441)Gtg>Atg	p.V147M	TOLLIP_ENST00000263646.7_Missense_Mutation_p.V188M|TOLLIP_ENST00000317204.6_Missense_Mutation_p.V216M|TOLLIP_ENST00000525159.1_Missense_Mutation_p.V155M|TOLLIP_ENST00000542915.1_Missense_Mutation_p.V166M|TOLLIP_ENST00000527938.1_Silent_p.P73P			Q9H0E2	TOLIP_HUMAN	toll interacting protein	216					cell-cell signaling|inflammatory response|innate immune response|intracellular signal transduction|leukocyte activation|phosphorylation	cytosol|interleukin-1 receptor complex|interleukin-18 receptor complex	kinase binding|signal transducer activity|Toll-like receptor binding			large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	6		all_cancers(49;7.62e-05)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.00152)|Lung(200;0.09)|LUSC - Lung squamous cell carcinoma(625;0.107)		GGCAGGGCCACGGGCACCATG	0.607													T	1298448	C	T	1298448	3	4	493	1	0	0	0	0	1	0	0	0	16450	536	19	1	182	1	TOLLIP	11	1298448	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	196272	1298448	133708068	41	45331											
UBQLN3	50613	broad.mit.edu	37	chr11	5529965	5529965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcagtggcaaagggattgCcgccaaactgctcctggact	9	8	13	11	1	0	0	0	0	0	0	1	2	1	2	3	4	3	3	3	4	2	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:5529965C>T	ENST00000311659.4	-	2	971	c.824G>A	c.(823-825)gGc>gAc	p.G275D	HBG2_ENST00000380259.2_Intron	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	275										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AAAGGGATTGCCGCCAAACTG	0.512													T	5529965	C	T	5529965	3	4	493	1	0	0	0	0	1	0	0	0	17000	739	26	2	1147	2	UBQLN3	11	5529965	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	4231517	5529965	129476551	42	45332											
ZNF215	7762	broad.mit.edu	37	chr11	6953559	6953559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcgaaacctgtctctacGtgaacaaagagaggttctga	13	9	9	10	2	2	3	0	2	2	1	4	5	2	3	2	1	3	1	2	1	4	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:6953559G>A	ENST00000278319.5	+	3	644	c.56G>A	c.(55-57)cGt>cAt	p.R19H	ZNF215_ENST00000529903.1_Missense_Mutation_p.R19H|ZNF215_ENST00000414517.2_Missense_Mutation_p.R19H|ZNF215_ENST00000527171.1_3'UTR	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	19					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		CTGTCTCTACGTGAACAAAGA	0.473													A	6953559	G	A	6953559	3	1	493	1	0	0	0	0	1	0	0	0	17872	1145	40	1	58	1	ZNF215	11	6953559	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	1423594	6953559	128052957	43	45333											
MRGPRX2	117194	broad.mit.edu	37	chr11	19077575	19077575	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacggacaggcagcgctcGgtgctgacggtgctcagcat	8	6	16	11	4	1	1	1	1	0	0	2	3	1	3	0	5	4	5	0	5	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:19077575G>A	ENST00000329773.2	-	2	462	c.375C>T	c.(373-375)acC>acT	p.T125T		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	125					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						GGCAGCGCTCGGTGCTGACGG	0.602													A	19077575	G	A	19077575	2	1	493	1	0	0	0	0	0	0	0	1	9843	1103	39	1		1	MRGPRX2	11	19077575	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	12124016	19077575	115928941	44	45334											
AMBRA1	55626	broad.mit.edu	37	chr11	46419176	46419176	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttggctgggttggctcccGcccaggggtaccaggctggt	3	9	18	11	1	0	0	0	0	0	0	1	0	1	0	3	8	1	6	3	8	1	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:46419176G>A	ENST00000458649.2	-	18	4139	c.3721C>T	c.(3721-3723)Cgg>Tgg	p.R1241W	AMBRA1_ENST00000314845.3_Missense_Mutation_p.R1151W|AMBRA1_ENST00000533727.1_Missense_Mutation_p.R1122W|AMBRA1_ENST00000528950.1_Missense_Mutation_p.R1212W|AMBRA1_ENST00000298834.3_Missense_Mutation_p.R1181W|AMBRA1_ENST00000534300.1_Missense_Mutation_p.R1181W|AMBRA1_ENST00000426438.1_Missense_Mutation_p.R1212W			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1241					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		GTTGGCTCCCGCCCAGGGGTA	0.672													A	46419176	G	A	46419176	3	1	493	1	0	0	0	0	1	0	0	0	565	1086	38	1	179	1	AMBRA1	11	46419176	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	27341601	46419176	88587340	45	45335											
OR5R1	219479	broad.mit.edu	37	chr11	56185615	56185615	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgaccagatagataactaAaaacaccccaaagcacgggg	17	5	9	10	1	0	3	0	1	0	2	0	3	0	3	3	2	3	1	3	2	6	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:56185615A>G	ENST00000312253.1	-	1	93	c.94T>C	c.(94-96)Tta>Cta	p.L32L		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	32					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					TAGATAACTAAAAACACCCCA	0.418													G	56185615	A	G	56185615	2	3	493	1	0	0	0	0	0	0	0	1	11256	11	1	3		3	OR5R1	11	56185615	Silent	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08	9766439	56185615	78820901	46	45336											
AHNAK	79026	broad.mit.edu	37	chr11	62294254	62294254	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggccttcaatgtccacCttgggtcctgagatgtcaac	8	11	10	12	0	3	1	3	1	0	1	5	2	5	1	4	2	1	0	4	2	2	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:62294254C>T	ENST00000378024.4	-	5	7909	c.7635G>A	c.(7633-7635)aaG>aaA	p.K2545K	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2545					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CAATGTCCACCTTGGGTCCTG	0.483													T	62294254	C	T	62294254	2	4	493	1	0	0	0	0	0	0	0	1	414	680	24	2		2	AHNAK	11	62294254	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	6108639	62294254	72712262	47	45337											
HEPHL1	341208	broad.mit.edu	37	chr11	93796832	93796832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaccattcgcacatcgacGccccaaaggacatctgctct	10	9	7	15	3	2	0	0	0	2	0	4	2	2	1	3	1	2	3	3	1	2	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:93796832G>A	ENST00000315765.9	+	3	582	c.574G>A	c.(574-576)Gcc>Acc	p.A192T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	192	Plastocyanin-like 1.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GCACATCGACGCCCCAAAGGA	0.522													A	93796832	G	A	93796832	3	1	493	1	0	0	0	0	1	0	0	0	7110	1087	38	1	584	1	HEPHL1	11	93796832	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	31502578	93796832	41209684	48	45338											
ADAMTS15	170689	broad.mit.edu	37	chr11	130340895	130340895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccggctcactctcgccGtggcatgggtgcccaagtac	7	7	11	16	3	2	0	1	0	1	0	3	0	2	0	4	3	3	3	4	3	3	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr11:130340895G>A	ENST00000299164.2	+	6	1801	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	601	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CACTCTCGCCGTGGCATGGGT	0.597													A	130340895	G	A	130340895	3	1	493	1	0	0	0	0	1	0	0	0	260	1145	40	1	1823	1	ADAMTS15	11	130340895	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	36544063	130340895	4665621	49	45339											
CD163	9332	broad.mit.edu	37	chr12	7635288	7635288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagtcaagaagaataatgcGacgaaaatggccaacagaac	19	6	9	7	2	1	3	1	0	0	3	1	5	1	3	1	1	3	0	1	1	9	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:7635288G>A	ENST00000359156.4	-	14	3400	c.3198C>T	c.(3196-3198)gtC>gtT	p.V1066V	CD163_ENST00000396620.3_Silent_p.V1099V|CD163_ENST00000541972.1_Silent_p.V1054V|CD163_ENST00000432237.2_Silent_p.V1066V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1066					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						AGAATAATGCGACGAAAATGG	0.423													A	7635288	G	A	7635288	2	1	493	1	0	0	0	0	0	0	0	1	2997	1045	37	1		1	CD163	12	7635288	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		7635288	126216607	50	45340											
TRPV4	59341	broad.mit.edu	37	chr12	110234444	110234444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcccataggcccagtccttGaacttgcgggacaggtgccg	7	7	14	13	2	0	1	0	1	0	0	1	2	1	2	4	4	3	0	4	4	2	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr12:110234444G>A	ENST00000418703.2	-	6	1312	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	TRPV4_ENST00000346520.2_Intron|TRPV4_ENST00000544971.1_Intron|TRPV4_ENST00000537083.1_Intron|TRPV4_ENST00000536838.1_Silent_p.F372F|TRPV4_ENST00000541794.1_Silent_p.F359F|TRPV4_ENST00000392719.2_Silent_p.F359F|TRPV4_ENST00000261740.2_Silent_p.F406F	NM_001177431.1	NP_001170902.1	Q9HBA0	TRPV4_HUMAN	transient receptor potential cation channel, subfamily V, member 4	406					actin cytoskeleton reorganization|actin filament organization|calcium ion import|cell death|cell volume homeostasis|cell-cell junction assembly|cellular hypotonic response|cortical microtubule organization|elevation of cytosolic calcium ion concentration|microtubule polymerization|negative regulation of neuron projection development|osmosensory signaling pathway|positive regulation of microtubule depolymerization|response to mechanical stimulus	cortical actin cytoskeleton|filopodium|focal adhesion|growth cone|integral to membrane|lamellipodium|ruffle membrane	actin filament binding|alpha-tubulin binding|beta-tubulin binding|calcium channel activity|calmodulin binding|microtubule binding|protein binding|protein kinase C binding|SH2 domain binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(2)|skin(4)|stomach(1)	35						CCCAGTCCTTGAACTTGCGGG	0.607													A	110234444	G	A	110234444	2	1	493	1	0	0	0	0	0	0	0	1	16699	1281	45	2		2	TRPV4	12	110234444	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	102599156	110234444	23617451	51	45341											
HECTD1	25831	broad.mit.edu	37	chr14	31576337	31576337	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttggccaagaaaattccaagGaaatgaaacagtttcgtgat	16	10	9	6	1	0	3	0	2	0	1	2	4	1	4	2	2	1	1	2	2	6	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:31576337G>A	ENST00000399332.1	-	38	7229	c.6741C>T	c.(6739-6741)ttC>ttT	p.F2247F	HECTD1_ENST00000553700.1_Silent_p.F2247F	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	2247	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		AAATTCCAAGGAAATGAAACA	0.378													A	31576337	G	A	31576337	2	1	493	1	0	0	0	0	0	0	0	1	7094	1165	41	2		2	HECTD1	14	31576337	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		31576337	75773203	52	45342											
KLHDC1	122773	broad.mit.edu	37	chr14	50206884	50206885	+	Frame_Shift_Ins	INS	-	-	A																															ggtgggagcaaagatgacttINSacttgccttggatacagtaa																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50206884_50206885insA	ENST00000359332.2	+	11	1055_1056	c.965_966insA	c.(964-969)ttacttfs	p.L323fs	KLHDC1_ENST00000554512.1_3'UTR	NM_172193.2	NP_751943.1	Q8N7A1	KLDC1_HUMAN	kelch domain containing 1	323						cytoplasm				kidney(1)|large_intestine(1)|liver(2)|lung(5)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	12	all_epithelial(31;0.00244)|Breast(41;0.00964)					AAAGATGACTTACTTGCCTTGG	0.332													A	50206885	-	A	50206884	7	5	493	1	0	1	1	0	0	0	0	0	8412	1764	61	0	1007	0	KLHDC1	14	50206884	Frame_Shift_Ins	INS	-	TCGA-FG-A4MU-01B-11D-A289-08	18630547	50206884	57142656	53	45343											
L2HGDH	79944	broad.mit.edu	37	chr14	50735882	50735882	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagcatcattacctaccGgataaatatttccttttaca	14	13	5	9	1	1	0	1	0	0	0	2	2	2	2	3	2	4	1	3	2	7	7	rs118204020		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:50735882G>A	ENST00000267436.4	-	7	1302	c.905C>T	c.(904-906)cCg>cTg	p.P302L	L2HGDH_ENST00000261699.4_Splice_Site_p.P302L|L2HGDH_ENST00000421284.3_Splice_Site_p.P302L			Q9H9P8	L2HDH_HUMAN	L-2-hydroxyglutarate dehydrogenase	302			P -> L (in L2HGA).		2-oxoglutarate metabolic process|cellular protein metabolic process	integral to mitochondrial inner membrane	2-hydroxyglutarate dehydrogenase activity			kidney(1)|large_intestine(4)|lung(3)|ovary(2)	10	all_epithelial(31;0.000599)|Breast(41;0.0102)					ATTACCTACCGGATAAATATT	0.388													A	50735882	G	A	50735882	5	1	493	1	0	0	0	0	0	0	1	0	8649	1130	39	1	502	1	L2HGDH	14	50735882	Splice_Site	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	528998	50735882	56613658	54	45344											
CCDC88C	440193	broad.mit.edu	37	chr14	91770249	91770249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctccgtctccttggccGtgtggtggttctgcagcagc	2	13	13	13	3	3	0	0	0	3	0	5	0	3	0	3	3	3	4	3	3	0	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr14:91770249G>A	ENST00000389857.6	-	20	3517	c.3431C>T	c.(3430-3432)aCg>aTg	p.T1144M		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	1144					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CTCCTTGGCCGTGTGGTGGTT	0.657													A	91770249	G	A	91770249	3	1	493	1	0	0	0	0	1	0	0	0	2893	1145	40	1	2699	1	CCDC88C	14	91770249	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	41034367	91770249	15579291	55	45345											
IREB2	3658	broad.mit.edu	37	chr15	78730692	78730692	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccggcgatggacgccccaAaagcaggtcagtttcgggcc	8	6	13	14	4	1	0	1	0	0	0	3	2	2	1	4	4	1	2	4	4	2	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:78730692A>G	ENST00000258886.8	+	1	162	c.13A>G	c.(13-15)Aaa>Gaa	p.K5E	IREB2_ENST00000560440.1_Missense_Mutation_p.K5E	NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	5							4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		GGACGCCCCAAAAGCAGGTCA	0.662													G	78730692	A	G	78730692	3	3	493	1	0	0	0	0	1	0	0	0	7884	15	1	3	15	3	IREB2	15	78730692	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		78730692	23800700	56	45346											
AGBL1	123624	broad.mit.edu	37	chr15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttttctgcaggacatcGtccatatcaggtgatcactg	8	13	8	12	1	3	1	2	1	1	0	5	2	4	2	2	2	1	1	2	2	1	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													A	86940603	G	A	86940603	3	1	493	1	0	0	0	0	1	0	0	0	375	1145	40	1	2305	1	AGBL1	15	86940603	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	8209911	86940603	15590789	57	45347											
SRRM2	23524	broad.mit.edu	37	chr16	2820396	2820396	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagactccctcagggactctCggtccctcagctactcgcct	6	10	8	17	2	3	1	2	0	1	1	7	2	5	2	3	2	2	1	3	2	2	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:2820396C>A	ENST00000301740.8	+	13	8614	c.8065C>A	c.(8065-8067)Cgg>Agg	p.R2689R		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2689	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						CAGGGACTCTCGGTCCCTCAG	0.647													A	2820396	C	A	2820396	2	1	493	1	0	0	0	0	0	0	0	1	15265	875	31	4		4	SRRM2	16	2820396	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		2820396	87534357	58	45348											
C16orf45	89927	broad.mit.edu	37	chr16	15609218	15609218	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgccagaggagattgagCtggagatggcaaaaattcag	14	8	14	5	0	1	5	1	2	0	3	1	7	1	5	1	3	2	2	1	3	2	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr16:15609218C>A	ENST00000300006.4	+	2	522	c.163C>A	c.(163-165)Ctg>Atg	p.L55M	C16orf45_ENST00000566490.1_Missense_Mutation_p.L55M|C16orf45_ENST00000561692.1_Missense_Mutation_p.L7M|C16orf45_ENST00000452191.2_Missense_Mutation_p.L38M	NM_033201.2	NP_149978.1	Q96MC5	CP045_HUMAN	chromosome 16 open reading frame 45	55										endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)	11						GGAGATTGAGCTGGAGATGGC	0.532													A	15609218	C	A	15609218	3	1	493	1	0	0	0	0	1	0	0	0	1828	796	28	4	228	4	C16orf45	16	15609218	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	12788822	15609218	74745535	59	45349											
OR3A2	4995	broad.mit.edu	37	chr17	3181586	3181586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccaaaggtgtgcctgccAtgatgaaacccacagcaaag	15	5	10	11	0	0	2	0	2	0	0	0	3	0	2	4	1	5	1	4	1	4	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:3181586A>G	ENST00000408891.2	-	1	682	c.644T>C	c.(643-645)aTg>aCg	p.M215T		NM_002551.3	NP_002542.3	P47893	OR3A2_HUMAN	olfactory receptor, family 3, subfamily A, member 2	215					sensory perception of smell	integral to plasma membrane	olfactory receptor activity			ovary(1)	1						TGTGCCTGCCATGATGAAACC	0.547													G	3181586	A	G	3181586	3	3	493	1	0	0	0	0	1	0	0	0	11114	217	8	3	325	3	OR3A2	17	3181586	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		3181586	78013624	60	45350											
MYH13	8735	broad.mit.edu	37	chr17	10267760	10267760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcttggaatcgaatggacGattttgagcctcgattctct	8	16	9	8	3	2	1	0	1	2	0	5	6	2	3	1	2	1	0	1	2	2	5			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:10267760G>A	ENST00000418404.3	-	2	251	c.88C>T	c.(88-90)Cgt>Tgt	p.R30C	MYH13_ENST00000252172.4_Missense_Mutation_p.R30C			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	30	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TCGAATGGACGATTTTGAGCC	0.463													A	10267760	G	A	10267760	3	1	493	1	0	0	0	0	1	0	0	0	10108	1058	37	1	5884	1	MYH13	17	10267760	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	7086174	10267760	70927450	61	45351											
SDK2	54549	broad.mit.edu	37	chr17	71344740	71344741	+	Frame_Shift_Del	DEL	GA	GA	-																															tggccctcctgccctcacctGagagtcggagatttctgagg																										TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr17:71344740_71344741delGA	ENST00000392650.3	-	44	6162_6163	c.6162_6163delTC	c.(6160-6165)tctcagfs	p.Q2055fs	SDK2_ENST00000410094.1_5'UTR|SDK2_ENST00000388726.3_Frame_Shift_Del_p.Q2036fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	2055					cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GCCCTCACCTGAGAGTCGGAGA	0.594													-	71344741	GA	-	71344740	7	5	493	1	0	1	0	1	0	0	0	0	14062	1299	45	0	363	0	SDK2	17	71344740	Frame_Shift_Del	DEL	GA	TCGA-FG-A4MU-01B-11D-A289-08	61076980	71344740	9850470	62	45352											
FHOD3	80206	broad.mit.edu	37	chr18	34298551	34298551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaagttcggccttttgActggccatgtaaaaacaacc	13	10	9	9	1	0	2	0	2	0	0	1	3	0	2	3	2	2	2	3	2	6	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr18:34298551A>G	ENST00000257209.4	+	16	2887	c.2765A>G	c.(2764-2766)gAc>gGc	p.D922G	FHOD3_ENST00000445677.1_Missense_Mutation_p.D884G|FHOD3_ENST00000591635.1_Missense_Mutation_p.D118G|FHOD3_ENST00000359247.4_Missense_Mutation_p.D905G|FHOD3_ENST00000590592.1_Missense_Mutation_p.D1097G|FHOD3_ENST00000592128.1_5'UTR	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	905	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				CGGCCTTTTGACTGGCCATGT	0.502													G	34298551	A	G	34298551	3	3	493	1	0	0	0	0	1	0	0	0	5932	275	10	3	2827	3	FHOD3	18	34298551	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08		34298551	43778697	63	45353											
CD209	30835	broad.mit.edu	37	chr19	7812221	7812221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgtatcctcgagtctgtCggaatccaaggcctctcagc	7	12	9	13	2	3	0	1	0	3	0	8	2	5	1	3	2	1	1	3	2	3	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:7812221C>T	ENST00000315599.7	-	2	99	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	CD209_ENST00000394161.5_Missense_Mutation_p.R26Q|CD209_ENST00000315591.8_Missense_Mutation_p.R26Q|CD209_ENST00000354397.6_Missense_Mutation_p.R26Q|CD209_ENST00000593821.1_Intron|CD209_ENST00000601951.1_Missense_Mutation_p.R26Q|CD209_ENST00000204801.8_Intron|CD209_ENST00000601256.1_Missense_Mutation_p.R26Q|CD209_ENST00000394173.4_Missense_Mutation_p.R26Q|CD209_ENST00000301357.8_Intron|CD209_ENST00000593660.1_Missense_Mutation_p.R26Q|CD209_ENST00000602261.1_Missense_Mutation_p.R26Q	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	26					cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCGAGTCTGTCGGAATCCAAG	0.572													T	7812221	C	T	7812221	3	4	493	1	0	0	0	0	1	0	0	0	3014	884	31	1	1161	1	CD209	19	7812221	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		7812221	51316762	64	45354											
ZNF763	284390	broad.mit.edu	37	chr19	12089769	12089769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agaagccttatcaatgtaagGaatgtagaaaagcattcacg	17	9	9	6	1	2	2	2	0	0	2	2	3	2	3	1	1	2	3	1	1	8	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12089769G>A	ENST00000343949.5	+	4	1194	c.1039G>A	c.(1039-1041)Gaa>Aaa	p.E347K	ZNF763_ENST00000590798.1_Missense_Mutation_p.E364K|ZNF763_ENST00000358987.3_Missense_Mutation_p.E344K|ZNF763_ENST00000538752.1_Missense_Mutation_p.E364K|ZNF763_ENST00000545530.1_Missense_Mutation_p.E222K	NM_001012753.1	NP_001012771.1			zinc finger protein 763											central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)	15						TCAATGTAAGGAATGTAGAAA	0.413													A	12089769	G	A	12089769	3	1	493	1	0	0	0	0	1	0	0	0	18237	1175	41	2	1053	2	ZNF763	19	12089769	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	4277548	12089769	47039214	65	45355											
C19orf43	79002	broad.mit.edu	37	chr19	12841862	12841862	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtacttggcccacgcGtcacctttacttgttaatac	8	13	7	13	2	1	0	1	0	0	0	1	0	1	0	3	1	3	2	3	1	4	7	rs116718949	byFrequency	TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:12841862G>A	ENST00000242784.4	-	3	561	c.444C>T	c.(442-444)gaC>gaT	p.D148D	C19orf43_ENST00000588213.1_3'UTR|C19orf43_ENST00000592273.1_Silent_p.D122D	NM_024038.2	NP_076943.1	Q9BQ61	CS043_HUMAN	chromosome 19 open reading frame 43	148										endometrium(2)|large_intestine(2)	4						TGGCCCACGCGTCACCTTTAC	0.557													A	12841862	G	A	12841862	2	1	493	1	0	0	0	0	0	0	0	1	1945	1136	40	1		1	C19orf43	19	12841862	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	752093	12841862	46287121	66	45356											
SLC1A6	6511	broad.mit.edu	37	chr19	15063753	15063753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcacaggaaccagtccaCggcaatgatgagcgtgatgt	12	7	11	11	2	1	3	1	3	0	0	2	4	2	4	2	2	2	1	2	2	2	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:15063753C>T	ENST00000430939.2	-	8	1423	c.1294G>A	c.(1294-1296)Gtg>Atg	p.V432M	SLC1A6_ENST00000221742.3_Missense_Mutation_p.V496M|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V418M			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	496					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	AACCAGTCCACGGCAATGATG	0.582													T	15063753	C	T	15063753	3	4	493	1	0	0	0	0	1	0	0	0	14530	536	19	1	216	1	SLC1A6	19	15063753	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	2221891	15063753	44065230	67	45357											
RYR1	6261	broad.mit.edu	37	chr19	38942436	38942436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagggccacatggacgaCgcactgtcgctgacccgctg	8	5	14	14	4	0	1	0	1	0	0	1	4	0	3	2	3	0	3	2	3	0	0	rs144658230		TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:38942436C>T	ENST00000355481.4	+	12	1286	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	RYR1_ENST00000360985.3_Silent_p.D385D|RYR1_ENST00000359596.3_Silent_p.D385D	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	385	MIR 5.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	ACATGGACGACGCACTGTCGC	0.632													T	38942436	C	T	38942436	2	4	493	1	0	0	0	0	0	0	0	1	13859	535	19	1		1	RYR1	19	38942436	Silent	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	23878683	38942436	20186547	68	45358											
RSPH6A	81492	broad.mit.edu	37	chr19	46313896	46313896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgttcgccttcagtgcCgcctccactccgggtgaaca	5	10	9	17	3	1	1	1	1	0	0	5	1	4	1	6	1	2	1	6	1	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:46313896C>T	ENST00000221538.3	-	2	995	c.853G>A	c.(853-855)Ggc>Agc	p.G285S	RSPH6A_ENST00000597055.1_Missense_Mutation_p.G285S|RSPH6A_ENST00000600188.1_Missense_Mutation_p.G21S	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	285						intracellular				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						CCTTCAGTGCCGCCTCCACTC	0.627													T	46313896	C	T	46313896	3	4	493	1	0	0	0	0	1	0	0	0	13798	652	23	1	1320	1	RSPH6A	19	46313896	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	7371460	46313896	12815087	69	45359											
LILRA4	23547	broad.mit.edu	37	chr19	54849686	54849686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgtcaccaccagctccagGgggtcgctgggctctgacca	6	7	12	16	1	2	1	1	1	1	0	4	1	3	1	5	3	1	3	5	3	0	0			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr19:54849686G>A	ENST00000291759.4	-	3	392	c.336C>T	c.(334-336)ccC>ccT	p.P112P		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	112	Ig-like C2-type 1.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		CCAGCTCCAGGGGGTCGCTGG	0.617													A	54849686	G	A	54849686	2	1	493	1	0	0	0	0	0	0	0	1	8847	1219	43	2		2	LILRA4	19	54849686	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08	8535790	54849686	4279297	70	45360											
TMPRSS15	5651	broad.mit.edu	37	chr21	19716359	19716359	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctccctcctggtccagttGgggtagaaatgtaaaatcct	9	12	10	10	0	1	1	0	0	1	1	5	1	4	1	4	3	0	3	4	3	4	3			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr21:19716359G>T	ENST00000284885.3	-	11	1223	c.1190C>A	c.(1189-1191)cCa>cAa	p.P397Q		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	397	MAM.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TGGTCCAGTTGGGGTAGAAAT	0.398													T	19716359	G	T	19716359	3	4	493	1	0	0	0	0	1	0	0	0	16346	1348	47	4	1929	4	TMPRSS15	21	19716359	Missense_Mutation	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		19716359	28413536	71	45361											
CCT8	10694	broad.mit.edu	37	chr21	30440001	30440001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatatgagaagccattacaAtcatttttgcagcaggatgc	13	11	9	8	0	1	1	1	1	0	1	1	3	1	2	1	1	5	3	1	1	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr21:30440001A>G	ENST00000286788.4	-	4	463	c.257T>C	c.(256-258)aTt>aCt	p.I86T	CCT8_ENST00000540844.1_Missense_Mutation_p.I13T|CCT8_ENST00000542732.1_Missense_Mutation_p.I67T|CCT8_ENST00000470450.1_5'UTR	NM_006585.2	NP_006576.2	P50990	TCPQ_HUMAN	chaperonin containing TCP1, subunit 8 (theta)	86					'de novo' posttranslational protein folding	aggresome|cytosol|intermediate filament cytoskeleton|microtubule organizing center	ATP binding|ATPase activity, coupled|unfolded protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|liver(1)|lung(1)|prostate(3)	14						AGCCATTACAATCATTTTTGC	0.368													G	30440001	A	G	30440001	3	3	493	1	0	0	0	0	1	0	0	0	2990	101	4	3	1437	3	CCT8	21	30440001	Missense_Mutation	SNP	A	TCGA-FG-A4MU-01B-11D-A289-08	10723642	30440001	17689894	72	45362											
SLC5A4	6527	broad.mit.edu	37	chr22	32643471	32643471	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcgctccccaccaaacCgcttcttgagatattccggc	8	9	9	15	3	1	1	0	1	1	1	4	3	3	2	5	2	1	2	5	2	2	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:32643471C>T	ENST00000266086.4	-	5	415	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	RP1-90G24.10_ENST00000434942.1_RNA	NM_014227.2	NP_055042.1	Q9NY91	SC5A4_HUMAN	solute carrier family 5 (glucose activated ion channel), member 4	135					carbohydrate transport|sodium ion transport	integral to membrane	symporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|pancreas(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCCACCAAACCGCTTCTTGAG	0.488													T	32643471	C	T	32643471	3	4	493	1	0	0	0	0	1	0	0	0	14761	652	23	1	1619	1	SLC5A4	22	32643471	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08		32643471	18661095	73	45363											
MICALL1	85377	broad.mit.edu	37	chr22	38329071	38329071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcagcagaacctggagcagCgccaggctgatgtcgagtat	11	6	14	10	2	0	2	0	1	0	1	1	4	0	3	2	2	5	5	2	2	2	1			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chr22:38329071C>T	ENST00000215957.6	+	13	2386	c.2260C>T	c.(2260-2262)Cgc>Tgc	p.R754C	MICALL1_ENST00000402631.1_3'UTR	NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	754						cytoplasm|cytoskeleton	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					CCTGGAGCAGCGCCAGGCTGA	0.612													T	38329071	C	T	38329071	3	4	493	1	0	0	0	0	1	0	0	0	9648	768	27	1	2310	1	MICALL1	22	38329071	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	5685600	38329071	12975495	74	45364											
TEX13A	56157	broad.mit.edu	37	chrX	104464686	104464686	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acctccacgaggctggtctgGgccattcttagccgggaggc	6	8	14	13	2	2	0	0	0	2	0	3	2	3	1	4	5	1	1	4	5	1	2			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:104464686G>T	ENST00000372578.3	-	2	507	c.396C>A	c.(394-396)gcC>gcA	p.A132A	IL1RAPL2_ENST00000344799.4_Intron|TEX13A_ENST00000372575.1_Silent_p.A132A|TEX13A_ENST00000413579.1_Silent_p.A132A|IL1RAPL2_ENST00000372582.1_Intron	NM_031274.3	NP_112564.1	Q9BXU3	TX13A_HUMAN	testis expressed 13A	132						intracellular	zinc ion binding			large_intestine(5)|ovary(2)|upper_aerodigestive_tract(1)	8						GGCTGGTCTGGGCCATTCTTA	0.592													T	104464686	G	T	104464686	2	4	493	1	0	0	0	0	0	0	0	1	15876	1219	43	4		4	TEX13A	23	104464686	Silent	SNP	G	TCGA-FG-A4MU-01B-11D-A289-08		104464686	50805874	75	45365											
PLXNA3	55558	broad.mit.edu	37	chrX	153693430	153693430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcagcctcttaccttgCgggctaagaacctacctcag	9	10	8	14	1	3	1	2	0	1	1	3	1	3	1	4	1	6	2	4	1	4	4			TCGA-FG-A4MU-01B-11D-A289-08	TCGA-FG-A4MU-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17bade4e-8b65-42e3-932f-d50716d0d833	fa64db97-5a09-43a5-8ef3-4671ca970e4b	g.chrX:153693430C>T	ENST00000369682.3	+	11	2288	c.2113C>T	c.(2113-2115)Cgg>Tgg	p.R705W		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	705					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCTTACCTTGCGGGCTAAGAA	0.647													T	153693430	C	T	153693430	3	4	493	1	0	0	0	0	1	0	0	0	12198	759	27	1	2151	1	PLXNA3	23	153693430	Missense_Mutation	SNP	C	TCGA-FG-A4MU-01B-11D-A289-08	49228744	153693430	1577130	76	45366											
ZBTB40	9923	broad.mit.edu	37	chr1	22852748	22852748	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcaggtgatcactttggaGgagacccagcttgccgggtc	8	8	15	10	1	1	2	1	1	0	1	2	5	1	3	2	4	3	2	2	4	0	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:22852748G>A	ENST00000404138.1	+	19	4090	c.3579G>A	c.(3577-3579)gaG>gaA	p.E1193E	ZBTB40_ENST00000374651.4_Silent_p.E1081E|ZBTB40_ENST00000375647.4_Silent_p.E1193E	NM_001083621.1	NP_001077090.1	Q9NUA8	ZBT40_HUMAN	zinc finger and BTB domain containing 40	1193					bone mineralization|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(4)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;2.86e-26)|Colorectal(126;8.55e-08)|COAD - Colon adenocarcinoma(152;4.1e-06)|GBM - Glioblastoma multiforme(114;1.39e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000712)|KIRC - Kidney renal clear cell carcinoma(1967;0.00374)|STAD - Stomach adenocarcinoma(196;0.00645)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.216)		TCACTTTGGAGGAGACCCAGC	0.592													A	22852748	G	A	22852748	2	1	494	1	0	0	0	0	0	0	0	1	17643	991	35	2		2	ZBTB40	1	22852748	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		22852748	226397873	1	45367											
PTCH2	8643	broad.mit.edu	37	chr1	45294292	45294292	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtgcgctgcagacactcGcccatgcgctcctgccagga	6	6	11	18	4	0	1	0	0	0	1	2	2	1	2	4	1	4	3	4	1	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:45294292G>A	ENST00000447098.2	-	12	1487	c.1476C>T	c.(1474-1476)ggC>ggT	p.G492G	PTCH2_ENST00000372192.3_Silent_p.G492G	NM_001166292.1	NP_001159764.1	Q9Y6C5	PTC2_HUMAN	patched 2	492	SSD.				protein complex assembly|spermatogenesis	integral to plasma membrane	hedgehog receptor activity			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	50	Acute lymphoblastic leukemia(166;0.155)					GCAGACACTCGCCCATGCGCT	0.632									Basal Cell Nevus syndrome				A	45294292	G	A	45294292	2	1	494	1	0	0	0	0	0	0	0	1	12816	1074	38	1		1	PTCH2	1	45294292	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	22441544	45294292	203956329	2	45368											
PHGDH	26227	broad.mit.edu	37	chr1	120254648	120254648	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggccaactccagcaatGgcttttgcaaatctgcggaa	11	8	10	12	2	1	0	0	0	1	0	2	2	2	1	3	3	4	3	3	3	4	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:120254648G>A	ENST00000369409.4	+	1	139	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_006623.3	NP_006614.2	O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	1					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity	p.M1I(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	CTCCAGCAATGGCTTTTGCAA	0.557													A	120254648	G	A	120254648	1	1	494	1	0	0	0	0	0	0	0	0	11918	1348	47	2		2	PHGDH	1	120254648	Translation_Start_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	74960356	120254648	128995973	3	45369											
LCE2A	353139	broad.mit.edu	37	chr1	152671572	152671572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagctctgggggtggCggctgctgcctgagccacca	4	8	16	13	1	1	1	0	1	1	0	1	1	1	1	3	4	6	5	3	4	0	0	rs61812675		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:152671572C>T	ENST00000368779.1	+	2	246	c.195C>T	c.(193-195)ggC>ggT	p.G65G		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	65	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGGGGTGGCGGCTGCTGCC	0.687													T	152671572	C	T	152671572	2	4	494	1	0	0	0	0	0	0	0	1	8724	755	27	1		1	LCE2A	1	152671572	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	32416924	152671572	96579049	4	45370											
PEAR1	375033	broad.mit.edu	37	chr1	156884576	156884576	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccatcacctccacttcgaCgccaggaccgttgaggagcc	8	6	9	18	3	1	1	1	1	0	0	3	4	2	3	7	2	1	1	7	2	0	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:156884576C>T	ENST00000338302.3	+	24	3325	c.3100C>T	c.(3100-3102)Cgc>Tgc	p.R1034C	PEAR1_ENST00000292357.7_Missense_Mutation_p.R1034C			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	1034						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TCCACTTCGACGCCAGGACCG	0.612													T	156884576	C	T	156884576	3	4	494	1	0	0	0	0	1	0	0	0	11788	536	19	1	3186	1	PEAR1	1	156884576	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	4213004	156884576	92366045	5	45371											
ZC3H11A	9877	broad.mit.edu	37	chr1	203818970	203818971	+	Frame_Shift_Ins	INS	-	-	G																															cacctcttcggggagatgtaINSgcctcttgcaatacccaagt																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr1:203818970_203818971insG	ENST00000545588.1	+	14	5582_5583	c.1755_1756insG	c.(1756-1758)gccfs	p.A586fs	ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.A586fs|ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.A586fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	586							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GGGGAGATGTAGCCTCTTGCAA	0.5													G	203818971	-	G	203818970	7	5	494	1	0	1	1	0	0	0	0	0	17661	407	15	0	1805	0	ZC3H11A	1	203818970	Frame_Shift_Ins	INS	-	TCGA-FG-A4MW-01A-11D-A26M-08	46934394	203818970	45431651	6	45372											
COLEC11	78989	broad.mit.edu	37	chr2	3691388	3691388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagaagcgctacgcggacGcccagctgtcctgccagggc	8	4	15	14	4	0	1	0	0	0	1	1	3	1	2	3	3	4	2	3	3	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:3691388G>A	ENST00000403096.3	+	6	909	c.418G>A	c.(418-420)Gcc>Acc	p.A140T	COLEC11_ENST00000402794.1_Missense_Mutation_p.A116T|COLEC11_ENST00000236693.7_Missense_Mutation_p.A163T|COLEC11_ENST00000404205.1_Missense_Mutation_p.A92T|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Missense_Mutation_p.A180T|COLEC11_ENST00000382062.2_Missense_Mutation_p.A142T|COLEC11_ENST00000402922.1_Missense_Mutation_p.A116T|COLEC11_ENST00000349077.4_Missense_Mutation_p.A166T	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	166						collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		CTACGCGGACGCCCAGCTGTC	0.662													A	3691388	G	A	3691388	3	1	494	1	0	0	0	0	1	0	0	0	3742	1087	38	1	601	1	COLEC11	2	3691388	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		3691388	239507985	7	45373											
NLRC4	58484	broad.mit.edu	37	chr2	32461395	32461395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctcagtttgaccaaattGtgaagattctgagctgggga	11	12	12	6	0	2	4	1	3	1	1	2	5	2	5	1	2	2	3	1	2	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:32461395G>A	ENST00000404025.2	-	8	3023	c.2535C>T	c.(2533-2535)caC>caT	p.H845H	NLRC4_ENST00000342905.6_Silent_p.H180H|NLRC4_ENST00000360906.5_Silent_p.H845H|NLRC4_ENST00000402280.1_Silent_p.H845H			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	845					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TGACCAAATTGTGAAGATTCT	0.303													A	32461395	G	A	32461395	2	1	494	1	0	0	0	0	0	0	0	1	10545	1368	48	2		2	NLRC4	2	32461395	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	28770007	32461395	210737978	8	45374											
SAP130	79595	broad.mit.edu	37	chr2	128707774	128707776	+	In_Frame_Del	DEL	CAC	CAC	-																															gacttgcgcttctcagccttCaccagaagactcttggcagt																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:128707774_128707776delCAC	ENST00000357702.5	-	17	2838_2840	c.2707_2709delGTG	c.(2707-2709)gtgdel	p.V903del	SAP130_ENST00000259235.3_In_Frame_Del_p.V868del|SAP130_ENST00000259234.6_In_Frame_Del_p.V876del	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	868	Interactions with SIN3A and HDAC1.				histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		TCTCAGCCTTCACCAGAAGACTC	0.468													-	128707776	CAC	-	128707774	7	5	494	1	0	1	0	1	0	0	0	0	13922	813	29	0	562	0	SAP130	2	128707774	In_Frame_Del	DEL	CAC	TCGA-FG-A4MW-01A-11D-A26M-08	96246379	128707774	114491599	9	45375											
FSIP2	401024	broad.mit.edu	37	chr2	186670853	186670853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatcagattctgaaatagGctataaaaagaagattgaca	18	10	9	4	0	2	5	1	2	1	3	2	6	2	6	0	2	0	1	0	2	7	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr2:186670853G>A	ENST00000343098.5	+	17	17087	c.17087G>A	c.(17086-17088)gGc>gAc	p.G5696D	FSIP2_ENST00000424728.1_Missense_Mutation_p.G5607D	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TCTGAAATAGGCTATAAAAAG	0.328													A	186670853	G	A	186670853	3	1	494	1	0	0	0	0	1	0	0	0	6127	1203	42	2	17153	2	FSIP2	2	186670853	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	57963079	186670853	56528520	10	45376											
RBMS3	27303	broad.mit.edu	37	chr3	29977603	29977603	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgattacaccaaccatggaCcatcccatgtcaatgcagcc	12	8	7	14	0	1	1	1	1	0	0	2	2	2	2	5	1	4	1	5	1	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:29977603C>T	ENST00000434693.2	+	11	1663	c.963C>T	c.(961-963)gaC>gaT	p.D321D	RBMS3_ENST00000452462.1_Silent_p.D322D|RBMS3_ENST00000456853.1_Silent_p.D335D|RBMS3_ENST00000383766.2_Silent_p.D304D|RBMS3_ENST00000273139.9_Silent_p.D322D|RBMS3_ENST00000383767.2_Silent_p.D322D|RBMS3_ENST00000396583.3_Silent_p.D335D|RBMS3_ENST00000473799.1_3'UTR	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	322						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				CAACCATGGACCATCCCATGT	0.438													T	29977603	C	T	29977603	2	4	494	1	0	0	0	0	0	0	0	1	13238	506	18	2		2	RBMS3	3	29977603	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		29977603	168044827	11	45377											
FLNB	2317	broad.mit.edu	37	chr3	58080624	58080624	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcactgtggacaccatcagCgccgggcaaggagacgtgat	10	7	13	11	3	2	2	2	1	0	1	2	4	2	3	2	3	1	1	2	3	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:58080624C>T	ENST00000357272.4	+	5	1014	c.849C>T	c.(847-849)agC>agT	p.S283S	FLNB_ENST00000419752.2_Silent_p.S114S|FLNB_ENST00000358537.3_Silent_p.S283S|FLNB_ENST00000490882.1_Silent_p.S283S|FLNB_ENST00000348383.5_Silent_p.S283S|FLNB_ENST00000493452.1_Silent_p.S114S|FLNB_ENST00000429972.2_Silent_p.S283S|FLNB_ENST00000295956.4_Silent_p.S283S			O75369	FLNB_HUMAN	filamin B, beta	283					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		ACACCATCAGCGCCGGGCAAG	0.542													T	58080624	C	T	58080624	2	4	494	1	0	0	0	0	0	0	0	1	5983	767	27	1		1	FLNB	3	58080624	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	28103021	58080624	139941806	12	45378											
AADACL2	344752	broad.mit.edu	37	chr3	151475059	151475062	+	Frame_Shift_Del	DEL	TATG	TATG	-																															ctgagaagtatagaaaagacTatgtatatactgaaccaatt																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:151475059_151475062delTATG	ENST00000356517.3	+	5	992_995	c.883_886delTATG	c.(883-888)tatgtafs	p.YV295fs	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	295						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TAGAAAAGACTATGTATATACTGA	0.397													-	151475062	TATG	-	151475059	7	5	494	1	0	1	0	1	0	0	0	0	11	1522	53	0	901	0	AADACL2	3	151475059	Frame_Shift_Del	DEL	TATG	TCGA-FG-A4MW-01A-11D-A26M-08	93394435	151475059	46547371	13	45379											
SLITRK3	22865	broad.mit.edu	37	chr3	164907844	164907844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaggggtctcacaggtaaTgtctcccaccagggcagtat	11	8	12	10	0	2	0	1	0	2	0	4	1	2	0	2	4	0	3	2	4	3	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr3:164907844T>C	ENST00000475390.1	-	2	1218	c.775A>G	c.(775-777)Att>Gtt	p.I259V	SLITRK3_ENST00000241274.3_Missense_Mutation_p.I259V			O94933	SLIK3_HUMAN	SLIT and NTRK-like family, member 3	259	LRRCT 1.					integral to membrane				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(66)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(5)	119						TCACAGGTAATGTCTCCCACC	0.488										HNSCC(40;0.11)			C	164907844	T	C	164907844	3	2	494	1	0	0	0	0	1	0	0	0	14838	1464	51	3	2162	3	SLITRK3	3	164907844	Missense_Mutation	SNP	T	TCGA-FG-A4MW-01A-11D-A26M-08	13432785	164907844	33114586	14	45380											
WFS1	7466	broad.mit.edu	37	chr4	6304060	6304060	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcgagctcaaggccatcagCtgcctcaactgcatggccca	9	8	9	15	1	3	0	3	0	0	0	4	1	3	0	3	2	5	3	3	2	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:6304060C>T	ENST00000226760.1	+	8	2708	c.2538C>T	c.(2536-2538)agC>agT	p.S846S	WFS1_ENST00000503569.1_Silent_p.S846S	NM_001145853.1|NM_006005.3	NP_001139325.1|NP_005996.2	O76024	WFS1_HUMAN	Wolfram syndrome 1 (wolframin)	846					endoplasmic reticulum calcium ion homeostasis|endoplasmic reticulum unfolded protein response|ER overload response|ER-associated protein catabolic process|glucose homeostasis|kidney development|negative regulation of neuron apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|polyubiquitinated misfolded protein transport|positive regulation of calcium ion transport|positive regulation of growth|positive regulation of protein ubiquitination|positive regulation of proteolysis|protein stabilization|renal water homeostasis|sensory perception of sound|visual perception	dendrite|integral to endoplasmic reticulum membrane	activating transcription factor binding|ATPase binding|transporter activity|ubiquitin protein ligase binding			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	21				Colorectal(103;0.0512)		AGGCCATCAGCTGCCTCAACT	0.652													T	6304060	C	T	6304060	2	4	494	1	0	0	0	0	0	0	0	1	17462	796	28	2		2	WFS1	4	6304060	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		6304060	184850216	15	45381											
ENPEP	2028	broad.mit.edu	37	chr4	111398156	111398156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatggagttcgccggctggCtgaacggctccctcgtggga	5	8	15	13	4	0	1	0	1	0	0	3	3	1	3	3	5	1	4	3	5	1	1	rs112068198	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:111398156C>A	ENST00000265162.5	+	1	928	c.586C>A	c.(586-588)Ctg>Atg	p.L196M		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	196					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CGCCGGCTGGCTGAACGGCTC	0.502													A	111398156	C	A	111398156	3	1	494	1	0	0	0	0	1	0	0	0	5169	796	28	4	588	4	ENPEP	4	111398156	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	105094096	111398156	79756120	16	45382											
HHIP	64399	broad.mit.edu	37	chr4	145579961	145579961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtttccttcaaacaactgcGgatgagttttgcttttacta	9	16	8	8	1	1	1	1	1	0	0	2	2	2	2	1	2	5	3	1	2	4	7	rs146735069		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:145579961G>A	ENST00000296575.3	+	3	1147	c.492G>A	c.(490-492)gcG>gcA	p.A164A	HHIP_ENST00000511314.1_3'UTR|HHIP-AS1_ENST00000512359.1_RNA|HHIP_ENST00000434550.2_Silent_p.A164A	NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	164						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		AAACAACTGCGGATGAGTTTT	0.358													A	145579961	G	A	145579961	2	1	494	1	0	0	0	0	0	0	0	1	7147	1103	39	1		1	HHIP	4	145579961	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	34181805	145579961	45574315	17	45383											
ACSL1	2180	broad.mit.edu	37	chr4	185678385	185678385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagaaggccattgtcgataGaaaataattcagggtgcaat	15	10	10	6	1	2	2	2	0	0	2	3	3	2	2	1	2	1	1	1	2	6	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr4:185678385G>A	ENST00000515030.1	-	21	2316	c.1991C>T	c.(1990-1992)tCt>tTt	p.S664F	ACSL1_ENST00000507295.1_Missense_Mutation_p.S630F|ACSL1_ENST00000504342.1_Missense_Mutation_p.S664F|ACSL1_ENST00000513317.1_Missense_Mutation_p.S664F|ACSL1_ENST00000437665.3_Missense_Mutation_p.S493F|ACSL1_ENST00000281455.2_Missense_Mutation_p.S664F|ACSL1_ENST00000454703.2_Missense_Mutation_p.S493F			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	664					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	ATTGTCGATAGAAAATAATTC	0.453													A	185678385	G	A	185678385	3	1	494	1	0	0	0	0	1	0	0	0	177	942	33	2	109	2	ACSL1	4	185678385	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	40098424	185678385	5475891	18	45384											
C6	729	broad.mit.edu	37	chr5	41149449	41149449	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccattctaactggcggccGtcttggcaggaaccaatatg	9	9	10	13	2	2	0	0	0	2	0	2	1	2	1	4	4	2	1	4	4	4	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:41149449G>A	ENST00000263413.3	-	17	2781	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	C6_ENST00000337836.5_Silent_p.D839D	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	839	C5b-binding domain.|Complement control factor I module 1.|Kazal-like 1.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				ACTGGCGGCCGTCTTGGCAGG	0.418													A	41149449	G	A	41149449	2	1	494	1	0	0	0	0	0	0	0	1	2337	1136	40	1		1	C6	5	41149449	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		41149449	139765811	19	45385											
HAPLN1	1404	broad.mit.edu	37	chr5	82937339	82937339	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgtatgctctgaagcagtaGacaccatacagcttatgctt	11	13	8	9	0	1	2	0	1	1	1	1	2	1	2	1	0	5	6	1	0	5	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:82937339G>A	ENST00000274341.4	-	5	1891	c.1041C>T	c.(1039-1041)gtC>gtT	p.V347V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	347	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		TGAAGCAGTAGACACCATACA	0.453													A	82937339	G	A	82937339	2	1	494	1	0	0	0	0	0	0	0	1	7009	929	33	2		2	HAPLN1	5	82937339	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	41787890	82937339	97977921	20	45386											
GRIA1	2890	broad.mit.edu	37	chr5	153078545	153078545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacgtgggctactcctaccGtctggagattgtcagtgatg	7	11	13	10	2	2	2	1	1	1	1	3	3	3	2	2	2	2	2	2	2	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr5:153078545G>A	ENST00000285900.5	+	10	1707	c.1364G>A	c.(1363-1365)cGt>cAt	p.R455H	GRIA1_ENST00000521843.2_Missense_Mutation_p.R386H|GRIA1_ENST00000448073.4_Missense_Mutation_p.R465H|GRIA1_ENST00000340592.5_Missense_Mutation_p.R455H|GRIA1_ENST00000518142.1_Missense_Mutation_p.R375H|GRIA1_ENST00000518783.1_Missense_Mutation_p.R465H	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	455					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding	p.R455H(1)		NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TACTCCTACCGTCTGGAGATT	0.542													A	153078545	G	A	153078545	3	1	494	1	0	0	0	0	1	0	0	0	6822	1145	40	1	1402	1	GRIA1	5	153078545	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	70141206	153078545	27836715	21	45387											
HLA-DPB1	3115	broad.mit.edu	37	chr6	33052887	33052887	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcgtgtccaccaacctgatCcgtaatggagactggacctt	9	10	10	12	2	0	2	0	1	0	1	3	4	2	3	5	2	1	1	5	2	2	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:33052887C>A	ENST00000418931.2	+	3	641	c.525C>A	c.(523-525)atC>atA	p.I175I		NM_002121.5	NP_002112.3	P04440	DPB1_HUMAN	major histocompatibility complex, class II, DP beta 1	175	Beta-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to membrane|lysosomal membrane|MHC class II protein complex				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	11						CCAACCTGATCCGTAATGGAG	0.552													A	33052887	C	A	33052887	2	1	494	1	0	0	0	0	0	0	0	1	7258	845	30	4		4	HLA-DPB1	6	33052887	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		33052887	138062180	22	45388											
TIAM2	26230	broad.mit.edu	37	chr6	155450785	155450785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctcaactgctacgggaGgaatgagagcattgcctcca	10	9	10	12	1	1	1	1	1	1	1	3	4	2	3	3	2	5	2	3	2	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr6:155450785G>A	ENST00000461783.3	+	6	1701	c.428G>A	c.(427-429)aGg>aAg	p.R143K	TIAM2_ENST00000318981.5_Missense_Mutation_p.R143K|TIAM2_ENST00000529824.2_Missense_Mutation_p.R143K|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R143K|TIAM2_ENST00000360366.4_Missense_Mutation_p.R143K			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	143					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TGCTACGGGAGGAATGAGAGC	0.567													A	155450785	G	A	155450785	3	1	494	1	0	0	0	0	1	0	0	0	15991	1000	35	2	430	2	TIAM2	6	155450785	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	122397898	155450785	15664282	23	45389											
CARD11	84433	broad.mit.edu	37	chr7	2983911	2983911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcactgagctgtgcgtagcGcatggctaagttgtagttgt	7	13	13	8	2	1	1	1	1	0	0	1	1	1	1	0	1	3	7	0	1	3	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:2983911G>A	ENST00000396946.4	-	5	1022	c.619C>T	c.(619-621)Cgc>Tgc	p.R207C	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	207					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TGTGCGTAGCGCATGGCTAAG	0.567			Mis		DLBCL								A	2983911	G	A	2983911	3	1	494	1	0	0	0	0	1	0	0	0	2671	1087	38	1	2929	1	CARD11	7	2983911	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		2983911	156154752	24	45390											
EGFR	1956	broad.mit.edu	37	chr7	55223567	55223567	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtgcgtccgagcctgtGgggccgacagctatgagatg	6	8	16	11	4	0	1	0	1	0	1	2	4	1	1	3	2	3	2	3	2	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:55223567G>T	ENST00000275493.2	+	8	1111	c.934G>T	c.(934-936)Ggg>Tgg	p.G312W	EGFR_ENST00000342916.3_Missense_Mutation_p.G312W|EGFR_ENST00000442591.1_Missense_Mutation_p.G312W|EGFR_ENST00000454757.2_Missense_Mutation_p.G259W|EGFR_ENST00000455089.1_Missense_Mutation_p.G267W|EGFR_ENST00000344576.2_Missense_Mutation_p.G312W|EGFR_ENST00000420316.2_Missense_Mutation_p.G312W	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	312					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CCGAGCCTGTGGGGCCGACAG	0.607		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223567	G	T	55223567	3	4	494	1	0	0	0	0	1	0	0	0	5006	1348	47	4	964	4	EGFR	7	55223567	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	52239656	55223567	103915096	25	45391											
CDK14	5218	broad.mit.edu	37	chr7	90377064	90377064	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactaggggaaggatcttaTgctacagtatacaaagggaa	17	8	11	5	0	1	0	0	0	1	0	1	3	1	3	0	4	4	2	0	4	9	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:90377064T>C	ENST00000406263.1	+	3	742	c.300T>C	c.(298-300)taT>taC	p.Y100Y	CDK14_ENST00000265741.3_Silent_p.Y128Y|CDK14_ENST00000436577.2_Intron|CDK14_ENST00000380050.3_Silent_p.Y146Y			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	146					cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGATCTTATGCTACAGTAT	0.338													C	90377064	T	C	90377064	2	2	494	1	0	0	0	0	0	0	0	1	3160	1471	51	3		3	CDK14	7	90377064	Silent	SNP	T	TCGA-FG-A4MW-01A-11D-A26M-08	35153497	90377064	68761599	26	45392											
PTCD1	26024	broad.mit.edu	37	chr7	99027240	99027240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcgaggcacatcctaaggtCtgcgcacttggcagccatct	9	9	10	13	2	2	0	0	0	2	0	4	1	3	0	2	3	2	3	2	3	1	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:99027240C>T	ENST00000292478.4	-	4	1034	c.784G>A	c.(784-786)Gac>Aac	p.D262N	ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.D311N|PTCD1_ENST00000555673.1_Missense_Mutation_p.D311N|PTCD1_ENST00000485746.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			ATCCTAAGGTCTGCGCACTTG	0.607													T	99027240	C	T	99027240	3	4	494	1	0	0	0	0	1	0	0	0	12812	913	32	2	1338	2	PTCD1	7	99027240	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	8650176	99027240	60111423	27	45393											
CTTNBP2	83992	broad.mit.edu	37	chr7	117424371	117424371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcacaggagtaattaatgtCcagtccttcttcattaagca	12	14	6	9	0	3	0	2	0	1	0	5	1	5	1	2	1	1	2	2	1	3	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:117424371C>T	ENST00000160373.3	-	5	2297	c.2206G>A	c.(2206-2208)Gac>Aac	p.D736N		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	736										breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		TAATTAATGTCCAGTCCTTCT	0.478													T	117424371	C	T	117424371	3	4	494	1	0	0	0	0	1	0	0	0	4078	855	30	2	2861	2	CTTNBP2	7	117424371	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	18397131	117424371	41714292	28	45394											
TRPV5	56302	broad.mit.edu	37	chr7	142627452	142627452	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagatcccacctctttgtCgaacgtcacaggtgcagtcc	8	10	8	15	2	2	1	1	0	1	1	6	2	5	1	4	1	2	1	4	1	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr7:142627452C>T	ENST00000265310.1	-	2	566	c.218G>A	c.(217-219)cGa>cAa	p.R73Q	TRPV5_ENST00000442623.1_Missense_Mutation_p.R73Q	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	73					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					ACCTCTTTGTCGAACGTCACA	0.512													T	142627452	C	T	142627452	3	4	494	1	0	0	0	0	1	0	0	0	16700	884	31	1	2027	1	TRPV5	7	142627452	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	25203081	142627452	16511211	29	45395											
ADAM28	10863	broad.mit.edu	37	chr8	24207446	24207446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggttgctatggtaatccGgcaccagagctccagagaaa	11	8	13	9	1	0	2	0	0	0	2	2	3	2	2	3	4	2	5	3	4	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:24207446G>A	ENST00000265769.4	+	19	2170	c.2060G>A	c.(2059-2061)cGg>cAg	p.R687Q	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000397649.3_Silent_p.P435P	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	687					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		ATGGTAATCCGGCACCAGAGC	0.478													A	24207446	G	A	24207446	3	1	494	1	0	0	0	0	1	0	0	0	246	1116	39	1	2190	1	ADAM28	8	24207446	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		24207446	122156576	30	45396											
MAK16	84549	broad.mit.edu	37	chr8	33356082	33356082	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaccactgcagagaaaaCgagcctatgtggaaatagaa	17	5	12	7	1	0	2	0	0	0	2	0	7	0	4	2	2	3	1	2	2	6	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr8:33356082C>A	ENST00000360128.6	+	10	1295	c.838C>A	c.(838-840)Cga>Aga	p.R280R	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	280						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						GCAGAGAAAACGAGCCTATGT	0.483													A	33356082	C	A	33356082	2	1	494	1	0	0	0	0	0	0	0	1	9273	528	19	4		4	MAK16	8	33356082	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	9148636	33356082	113007940	31	45397											
VLDLR	7436	broad.mit.edu	37	chr9	2648302	2648302	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcgtaggatagtactaaaGtctctggagttcctagctca	11	12	10	8	1	2	0	1	0	1	0	5	3	3	2	1	2	2	4	1	2	6	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:2648302G>A	ENST00000382100.3	+	13	2273	c.1917G>A	c.(1915-1917)aaG>aaA	p.K639K	VLDLR_ENST00000382099.2_Silent_p.K639K	NM_003383.3	NP_003374.3	P98155	VLDLR_HUMAN	very low density lipoprotein receptor						cholesterol metabolic process|endocytosis|lipid transport|memory|very-low-density lipoprotein particle clearance	coated pit|integral to membrane|membrane fraction|plasma membrane|very-low-density lipoprotein particle	apolipoprotein binding|calcium ion binding|low-density lipoprotein receptor activity|very-low-density lipoprotein particle receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(50;0.0668)|Lung(218;0.123)		TAGTACTAAAGTCTCTGGAGT	0.408													A	2648302	G	A	2648302	2	1	494	1	0	0	0	0	0	0	0	1	17276	1020	36	2		2	VLDLR	9	2648302	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		2648302	138565129	32	45398											
PRUNE2	158471	broad.mit.edu	37	chr9	79318755	79318758	+	Frame_Shift_Del	DEL	CTAA	CTAA	-																															acatgtgtctgggaagcttgCtaactgagttccctgcagcc																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:79318755_79318758delCTAA	ENST00000428286.1	-	9	7894_7897	c.6694_6697delTTAG	c.(6694-6699)ttagcafs	p.LA2232fs	PRUNE2_ENST00000376718.3_Frame_Shift_Del_p.LA2591fs			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2591					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GGGAAGCTTGCTAACTGAGTTCCC	0.417													-	79318758	CTAA	-	79318755	7	5	494	1	0	1	0	1	0	0	0	0	12726	797	28	0	1536	0	PRUNE2	9	79318755	Frame_Shift_Del	DEL	CTAA	TCGA-FG-A4MW-01A-11D-A26M-08	76670453	79318755	61894676	33	45399											
ASPN	54829	broad.mit.edu	37	chr9	95228797	95228797	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccttcgcaacttctttgtGgttagaaaggcttttgggtg	7	15	12	7	1	1	1	0	0	1	1	2	1	1	1	1	3	2	3	1	3	3	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:95228797G>A	ENST00000375544.3	-	4	687	c.444C>T	c.(442-444)acC>acT	p.T148T	ASPN_ENST00000395538.3_Silent_p.T148T|CENPP_ENST00000375587.3_Intron|ASPN_ENST00000375543.1_Silent_p.T148T	NM_017680.4	NP_060150	Q9BXN1	ASPN_HUMAN	asporin	148					bone mineralization|negative regulation of tooth mineralization|negative regulation of transforming growth factor beta receptor signaling pathway	proteinaceous extracellular matrix	calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|skin(1)	9						ACTTCTTTGTGGTTAGAAAGG	0.373													A	95228797	G	A	95228797	2	1	494	1	0	0	0	0	0	0	0	1	1062	1335	47	2		2	ASPN	9	95228797	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	15910042	95228797	45984634	34	45400											
ENG	2022	broad.mit.edu	37	chr9	130587089	130587089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgctcaccgcagctggaGgcatgaagtgagacaatgct	10	7	15	9	1	1	2	1	2	0	1	1	4	1	3	1	3	3	5	1	3	2	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr9:130587089G>A	ENST00000344849.3	-	7	1261	c.981C>T	c.(979-981)gcC>gcT	p.A327A	ENG_ENST00000373203.4_Silent_p.A327A|ENG_ENST00000480266.1_5'UTR			P17813	EGLN_HUMAN	endoglin	327					artery morphogenesis|BMP signaling pathway|cell adhesion|cell chemotaxis|central nervous system vasculogenesis|chronological cell aging|detection of hypoxia|extracellular matrix disassembly|heart looping|negative regulation of endothelial cell proliferation|negative regulation of nitric-oxide synthase activity|negative regulation of pathway-restricted SMAD protein phosphorylation|negative regulation of protein autophosphorylation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|patterning of blood vessels|positive regulation of BMP signaling pathway|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of systemic arterial blood pressure|positive regulation of transcription from RNA polymerase II promoter|regulation of cell adhesion|regulation of cell proliferation|regulation of transcription, DNA-dependent|regulation of transforming growth factor beta receptor signaling pathway|smooth muscle tissue development|transforming growth factor beta receptor signaling pathway|venous blood vessel morphogenesis|wound healing	cell surface|external side of plasma membrane|extracellular space|membrane fraction	activin binding|galactose binding|glycosaminoglycan binding|protein homodimerization activity|transforming growth factor beta binding|transforming growth factor beta receptor activity|transforming growth factor beta receptor, cytoplasmic mediator activity|transmembrane receptor activity|type I transforming growth factor beta receptor binding|type II transforming growth factor beta receptor binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	17						CGCAGCTGGAGGCATGAAGTG	0.617									Juvenile Polyposis;Hereditary Hemorrhagic Telangiectasia				A	130587089	G	A	130587089	2	1	494	1	0	0	0	0	0	0	0	1	5158	987	35	2		2	ENG	9	130587089	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	35358292	130587089	10626342	35	45401											
OPN4	94233	broad.mit.edu	37	chr10	88418318	88418318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacggccatcgccctggacCgctacctggtaatcacacgc	8	7	10	16	4	1	1	1	1	0	0	2	2	1	2	4	3	1	2	4	3	2	2	rs143641898	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:88418318C>T	ENST00000372071.2	+	5	762	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	OPN4_ENST00000241891.5_Missense_Mutation_p.R168C	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	168					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						CGCCCTGGACCGCTACCTGGT	0.617													T	88418318	C	T	88418318	3	4	494	1	0	0	0	0	1	0	0	0	10958	652	23	1	553	1	OPN4	10	88418318	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		88418318	47116429	36	45402											
PTEN	5728	broad.mit.edu	37	chr10	89624256	89624256	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatcaaagagatcgttagCagaaacaaaaggagatatca	20	7	8	6	1	3	3	3	0	0	3	4	5	3	3	0	1	2	2	0	1	6	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr10:89624256C>G	ENST00000371953.3	+	1	1387	c.30C>G	c.(28-30)agC>agG	p.S10R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	10			S -> N (retains phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.I8_R14>LRLICIF(1)|p.A3fs*14(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AGATCGTTAGCAGAAACAAAA	0.478		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89624256	C	G	89624256	3	3	494	1	0	0	0	0	1	0	0	0	12823	709	25	4	32	4	PTEN	10	89624256	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	1205938	89624256	45910491	37	45403											
SYT9	143425	broad.mit.edu	37	chr11	7324401	7324401	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctgccctctggtagcaaaGacaacaaccaggagcccctt	11	6	9	15	0	1	1	0	0	1	1	1	2	1	2	5	2	5	2	5	2	4	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:7324401G>C	ENST00000318881.6	+	2	514	c.277G>C	c.(277-279)Gac>Cac	p.D93H	SYT9_ENST00000396716.2_Missense_Mutation_p.D61H	NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	93						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		TGGTAGCAAAGACAACAACCA	0.562													C	7324401	G	C	7324401	3	2	494	1	0	0	0	0	1	0	0	0	15578	942	33	4	283	4	SYT9	11	7324401	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		7324401	127682115	38	45404											
OR4A16	81327	broad.mit.edu	37	chr11	55110940	55110940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttactctgtgataaaatCgctatttccttgtcagcttg	9	16	7	9	1	2	1	1	1	1	0	4	2	3	1	1	0	2	2	1	0	4	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:55110940C>T	ENST00000314721.2	+	1	314	c.264C>T	c.(262-264)atC>atT	p.I88I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	88					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGATAAAATCGCTATTTCCT	0.438													T	55110940	C	T	55110940	2	4	494	1	0	0	0	0	0	0	0	1	11117	874	31	1		1	OR4A16	11	55110940	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	47786539	55110940	79895576	39	45405											
SLC22A25	387601	broad.mit.edu	37	chr11	62997040	62997040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgatggtatactatgaCgttgaacattataaggaaaa	16	13	9	3	1	0	3	0	3	0	0	0	4	0	4	0	2	2	3	0	2	8	7			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:62997040C>T	ENST00000306494.6	-	1	84	c.85G>A	c.(85-87)Gtc>Atc	p.V29I	SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000535888.1_Intron	NM_199352.3	NP_955384.3	Q6T423	S22AP_HUMAN	solute carrier family 22, member 25	29					transmembrane transport	integral to membrane				NS(2)|breast(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(7)|ovary(3)|skin(7)	34						TATACTATGACGTTGAACATT	0.458													T	62997040	C	T	62997040	3	4	494	1	0	0	0	0	1	0	0	0	14548	536	19	1	1594	1	SLC22A25	11	62997040	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	7886100	62997040	72009476	40	45406											
CCDC87	55231	broad.mit.edu	37	chr11	66358631	66358633	+	In_Frame_Del	DEL	TCT	TCT	-																															ccacaatctccacaggaaccTcttcttcatgcatttgaaag																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:66358631_66358633delTCT	ENST00000333861.3	-	1	1921_1923	c.1854_1856delAGA	c.(1852-1857)gaagag>gag	p.618_619EE>E		NM_018219.2	NP_060689.2	Q9NVE4	CCD87_HUMAN	coiled-coil domain containing 87	618										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CACAGGAACCTCTTCTTCATGCA	0.473													-	66358633	TCT	-	66358631	7	5	494	1	0	1	0	1	0	0	0	0	2890	1551	54	0	697	0	CCDC87	11	66358631	In_Frame_Del	DEL	TCT	TCGA-FG-A4MW-01A-11D-A26M-08	3361591	66358631	68647885	41	45407											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343421	130343421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgggggccgtgctccgCgagctgcggcagtggcctgc	3	6	18	14	4	0	0	0	0	0	0	1	1	1	0	3	4	5	4	3	4	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr11:130343421C>T	ENST00000299164.2	+	8	2558	c.2558C>T	c.(2557-2559)gCg>gTg	p.A853V		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	853	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CCGTGCTCCGCGAGCTGCGGC	0.726													T	130343421	C	T	130343421	3	4	494	1	0	0	0	0	1	0	0	0	260	768	27	1	2588	1	ADAMTS15	11	130343421	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	63984790	130343421	4663095	42	45408											
NFKBIA	4792	broad.mit.edu	37	chr14	35872895	35872895	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgggccaggcaagcggcgcaCctgctgcaggttgttctgga	6	7	16	12	3	1	0	0	0	1	0	1	1	1	1	2	5	3	6	2	5	1	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:35872895C>T	ENST00000216797.5	-	2	438		c.e2+1		NFKBIA_ENST00000557389.1_Splice_Site|NFKBIA_ENST00000557140.1_Splice_Site|NFKBIA_ENST00000557100.1_Splice_Site	NM_020529.2	NP_065390.1	P25963	IKBA_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, alpha						anti-apoptosis|apoptosis|cellular response to cold|cytoplasmic sequestering of NF-kappaB|innate immune response|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of DNA binding|negative regulation of lipid storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|T cell receptor signaling pathway|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|I-kappaB/NF-kappaB complex|nucleus|plasma membrane	identical protein binding|NF-kappaB binding|nuclear localization sequence binding|ubiquitin protein ligase binding			breast(3)|endometrium(1)|large_intestine(2)|liver(1)	7	Breast(36;0.0484)|Hepatocellular(127;0.158)		Lung(238;9.25e-06)|LUAD - Lung adenocarcinoma(48;1.53e-05)|Epithelial(34;0.00314)|all cancers(34;0.00891)	GBM - Glioblastoma multiforme(112;0.0222)		AAGCGGCGCACCTGCTGCAGG	0.567													T	35872895	C	T	35872895	5	4	494	1	0	0	0	0	0	0	1	0	10453	521	18	2	636	2	NFKBIA	14	35872895	Splice_Site	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		35872895	71476645	43	45409											
SLC8A3	6547	broad.mit.edu	37	chr14	70515655	70515655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtactctgtggggggcaCacaggcaaacagcaccttcc	10	6	12	13	0	1	0	0	0	1	0	2	0	2	0	2	4	3	5	2	4	2	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:70515655C>T	ENST00000381269.2	-	7	2989	c.2236G>A	c.(2236-2238)Gtg>Atg	p.V746M	SLC8A3_ENST00000394330.2_Missense_Mutation_p.V103M|SLC8A3_ENST00000356921.2_Missense_Mutation_p.V740M|SLC8A3_ENST00000357887.3_Missense_Mutation_p.V744M|SLC8A3_ENST00000528359.1_Missense_Mutation_p.V744M|SLC8A3_ENST00000533541.1_Missense_Mutation_p.V103M|SLC8A3_ENST00000534137.1_Missense_Mutation_p.V743M|SLC8A3_ENST00000216568.7_Missense_Mutation_p.V117M	NM_058240.2|NM_183002.1	NP_489479.1|NP_892114.1	P57103	NAC3_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 3	746					cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(18)|ovary(2)|pancreas(2)|prostate(3)|skin(6)	54				BRCA - Breast invasive adenocarcinoma(234;0.0079)|all cancers(60;0.0102)|OV - Ovarian serous cystadenocarcinoma(108;0.0555)		GTGGGGGGCACACAGGCAAAC	0.592													T	70515655	C	T	70515655	3	4	494	1	0	0	0	0	1	0	0	0	14802	478	17	2	555	2	SLC8A3	14	70515655	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	34642760	70515655	36833885	44	45410											
GOLGA5	9950	broad.mit.edu	37	chr14	93276685	93276685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatgaagcggatgccaCtctgaagagagagcaggaga	14	5	14	8	1	1	5	0	2	1	3	1	8	1	6	1	2	4	2	1	2	2	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:93276685C>T	ENST00000163416.2	+	5	1335	c.1079C>T	c.(1078-1080)aCt>aTt	p.T360I	GOLGA5_ENST00000355976.2_Missense_Mutation_p.T360I	NM_005113.2	NP_005104	Q8TBA6	GOGA5_HUMAN	golgin A5	360					Golgi organization	cis-Golgi network|integral to membrane	ATP binding|protein homodimerization activity|protein tyrosine kinase activity|Rab GTPase binding			large_intestine(6)|lung(1)|ovary(2)	9		all_cancers(154;0.0934)		COAD - Colon adenocarcinoma(157;0.222)		GCGGATGCCACTCTGAAGAGA	0.433			T	RET	papillary thyroid								T	93276685	C	T	93276685	3	4	494	1	0	0	0	0	1	0	0	0	6612	565	20	2	1093	2	GOLGA5	14	93276685	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	22761030	93276685	14072855	45	45411											
SERPINA3	12	broad.mit.edu	37	chr14	95090030	95090030	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaaatcaccctcctttCtgcattagtggagacaagga	13	10	8	10	0	3	1	2	0	1	1	4	3	4	2	2	2	1	1	2	2	4	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr14:95090030C>T	ENST00000467132.1	+	5	2299	c.1151C>T	c.(1150-1152)tCt>tTt	p.S384F	RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000482740.1_Missense_Mutation_p.S166F|SERPINA3_ENST00000393078.3_Missense_Mutation_p.S384F|SERPINA3_ENST00000393080.4_Missense_Mutation_p.S384F			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	384	RCL.	Reactive bond.			acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACCCTCCTTTCTGCATTAGTG	0.498													T	95090030	C	T	95090030	3	4	494	1	0	0	0	0	1	0	0	0	14183	913	32	2	1165	2	SERPINA3	14	95090030	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	1813345	95090030	12259510	46	45412											
MYO5C	55930	broad.mit.edu	37	chr15	52534268	52534268	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgatacctcctccttgccaGgaatcctcggctgtaggcct	6	11	9	15	2	0	0	0	0	0	0	5	2	3	1	6	3	2	2	6	3	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:52534268G>A	ENST00000261839.7	-	20	2694	c.2533C>T	c.(2533-2535)Ctg>Ttg	p.L845L	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	845	IQ 4.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		CTCCTTGCCAGGAATCCTCGG	0.537													A	52534268	G	A	52534268	2	1	494	1	0	0	0	0	0	0	0	1	10156	991	35	2		2	MYO5C	15	52534268	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		52534268	49997124	47	45413											
TLN2	83660	broad.mit.edu	37	chr15	63032969	63032969	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctggctgcagctgcaagGtaggagtgggacacaatgtg	9	8	15	9	0	0	0	0	0	0	0	1	2	1	2	1	4	3	5	1	4	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:63032969G>A	ENST00000561311.1	+	31	4255		c.e31+1		TLN2_ENST00000306829.6_Splice_Site			Q9Y4G6	TLN2_HUMAN	talin 2						cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAGCTGCAAGGTAGGAGTGGG	0.493													A	63032969	G	A	63032969	5	1	494	1	0	0	0	0	0	0	1	0	16048	1275	44	2	4140	2	TLN2	15	63032969	Splice_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	10498701	63032969	39498423	48	45414											
STOML1	9399	broad.mit.edu	37	chr15	74281475	74281475	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagggacgttgaaggctcGtgtcctcagatccaccctct	7	9	13	12	2	2	2	1	1	1	1	5	4	4	4	3	3	0	2	3	3	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr15:74281475G>A	ENST00000316900.5	-	3	488	c.364C>T	c.(364-366)Cga>Tga	p.R122*	STOML1_ENST00000561656.1_Nonsense_Mutation_p.R35*|STOML1_ENST00000359750.4_Nonsense_Mutation_p.R122*|STOML1_ENST00000316911.6_Intron|STOML1_ENST00000564777.1_Intron|STOML1_ENST00000541638.1_Nonsense_Mutation_p.R80*	NM_001256672.1|NM_001256675.1|NM_001256677.1|NM_004809.4	NP_001243601.1|NP_001243604.1|NP_001243606.1|NP_004800.2	Q9UBI4	STML1_HUMAN	stomatin (EPB72)-like 1	122						integral to membrane	sterol binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|skin(1)	8						TTGAAGGCTCGTGTCCTCAGA	0.602													A	74281475	G	A	74281475	4	1	494	1	0	0	0	0	0	1	0	0	15409	1153	40	1	852	1	STOML1	15	74281475	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	11248506	74281475	28249917	49	45415											
NTN3	4917	broad.mit.edu	37	chr16	2522817	2522817	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcacaacaccgccggccgCcactgccactactgccggga	8	3	11	19	5	0	0	0	0	0	0	0	1	0	1	6	3	4	1	6	3	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:2522817C>T	ENST00000293973.1	+	2	1247	c.1044C>T	c.(1042-1044)cgC>cgT	p.R348R		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	348	Laminin EGF-like 2.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CCGCCGGCCGCCACTGCCACT	0.701													T	2522817	C	T	2522817	2	4	494	1	0	0	0	0	0	0	0	1	10777	726	26	2		2	NTN3	16	2522817	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		2522817	87831936	50	45416											
ATF7IP2	80063	broad.mit.edu	37	chr16	10574741	10574741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttgtgttgttcacagaaagtCcagtatcccccctggagtca	9	12	9	11	0	2	1	2	0	0	1	4	2	4	2	4	1	0	3	4	1	2	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:10574741C>T	ENST00000396560.2	+	11	1782	c.1555C>T	c.(1555-1557)Cca>Tca	p.P519S	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.P519S|ATF7IP2_ENST00000543967.1_Missense_Mutation_p.P63S|ATF7IP2_ENST00000396559.1_Silent_p.V496V|ATF7IP2_ENST00000324570.5_Silent_p.V496V	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	519					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						CACAGAAAGTCCAGTATCCCC	0.388													T	10574741	C	T	10574741	3	4	494	1	0	0	0	0	1	0	0	0	1093	855	30	2	1589	2	ATF7IP2	16	10574741	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	8051924	10574741	79780012	51	45417											
CDH8	1006	broad.mit.edu	37	chr16	62055202	62055202	+	Nonsense_Mutation	SNP	G	G	A																															ggatccactcattaaaacttGagactgattcatcggagcca																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055202G>A	ENST00000577390.1	-	2	1060	c.106C>T	c.(106-108)Caa>Taa	p.Q36*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q36*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q36*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q36*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	36					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ATTAAAACTTGAGACTGATTC	0.428													A	62055202	G	A	62055202	4	1	494	1	0	0	0	0	0	1	0	0	3146	1299	45	2	2337	2	CDH8	16	62055202	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	51480461	62055202	28299551	52	45418	151	2									
CDH8	1006	broad.mit.edu	37	chr16	62055208	62055208	+	Nonsense_Mutation	SNP	G	G	A																															actcattaaaacttgagactGattcatcggagccatgtaaa																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:62055208G>A	ENST00000577390.1	-	2	1054	c.100C>T	c.(100-102)Cag>Tag	p.Q34*	CDH8_ENST00000584337.1_Nonsense_Mutation_p.Q34*|CDH8_ENST00000299345.6_Nonsense_Mutation_p.Q34*|CDH8_ENST00000577730.1_Nonsense_Mutation_p.Q34*	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	34					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		ACTTGAGACTGATTCATCGGA	0.443													A	62055208	G	A	62055208	4	1	494	1	0	0	0	0	0	1	0	0	3146	1299	45	2	2343	2	CDH8	16	62055208	Nonsense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	6	62055208	28299545	53	45419	151	2									
PMFBP1	83449	broad.mit.edu	37	chr16	72166638	72166638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggtgggacagcacctgcagGggcctcaccagccagcctct	7	6	13	15	0	2	0	1	0	1	0	2	1	2	1	5	4	4	2	5	4	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:72166638G>A	ENST00000537465.1	-	10	1614	c.1456C>T	c.(1456-1458)Cct>Tct	p.P486S	PMFBP1_ENST00000237353.10_Intron|PMFBP1_ENST00000355636.6_Intron			Q8TBY8	PMFBP_HUMAN	polyamine modulated factor 1 binding protein 1	486										NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	45		Ovarian(137;0.179)				GCACCTGCAGGGGCCTCACCA	0.632													A	72166638	G	A	72166638	3	1	494	1	0	0	0	0	1	0	0	0	12211	1247	43	2		2	PMFBP1	16	72166638	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	10111430	72166638	18188115	54	45420											
PLCG2	5336	broad.mit.edu	37	chr16	81925184	81925184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattactggatctcctcGtcacataacacgtgagtttc	9	14	6	12	2	3	1	2	1	2	0	7	2	3	2	1	1	2	1	1	1	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81925184G>A	ENST00000359376.3	+	11	1189	c.975G>A	c.(973-975)tcG>tcA	p.S325S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	325	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						GGATCTCCTCGTCACATAACA	0.552													A	81925184	G	A	81925184	2	1	494	1	0	0	0	0	0	0	0	1	12113	1132	40	1		1	PLCG2	16	81925184	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	9758546	81925184	8429569	55	45421											
PLCG2	5336	broad.mit.edu	37	chr16	81953229	81953229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgaaagatgagactgcGctaccccgtgacccccgagc	10	5	10	16	4	0	3	0	2	0	2	0	6	0	3	5	0	4	1	5	0	3	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:81953229G>A	ENST00000359376.3	+	20	2409	c.2195G>A	c.(2194-2196)cGc>cAc	p.R732H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	732	SH2 2.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ATGAGACTGCGCTACCCCGTG	0.537													A	81953229	G	A	81953229	3	1	494	1	0	0	0	0	1	0	0	0	12113	1087	38	1	2269	1	PLCG2	16	81953229	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	28045	81953229	8401524	56	45422											
HSD17B2	3294	broad.mit.edu	37	chr16	82104638	82104638	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacaaacaatgcatggcCgtgaacttctttggaactgt	12	11	9	9	1	1	1	0	1	1	0	1	3	1	2	1	2	5	1	1	2	5	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr16:82104638C>T	ENST00000199936.4	+	3	763	c.570C>T	c.(568-570)gcC>gcT	p.A190A	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	190					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	AATGCATGGCCGTGAACTTCT	0.488													T	82104638	C	T	82104638	2	4	494	1	0	0	0	0	0	0	0	1	7439	639	23	1		1	HSD17B2	16	82104638	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	151409	82104638	8250115	57	45423											
MYH2	4620	broad.mit.edu	37	chr17	10430103	10430103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagggcatgcgccagggCgttcttggcctatggaggca	6	8	16	11	2	1	0	0	0	1	0	1	1	1	1	2	5	2	4	2	5	1	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:10430103C>T	ENST00000245503.5	-	30	4384	c.4000G>A	c.(4000-4002)Gcc>Acc	p.A1334T	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.A1334T|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1334					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCGCCAGGGCGTTCTTGGCC	0.493													T	10430103	C	T	10430103	3	4	494	1	0	0	0	0	1	0	0	0	10111	768	27	1	1869	1	MYH2	17	10430103	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		10430103	70765107	58	45424											
FOXN1	8456	broad.mit.edu	37	chr17	26864332	26864332	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtggctccggggcactgGgtgacctgcacctcaccacc	5	7	14	15	1	1	1	1	1	0	0	2	1	2	1	5	5	1	3	5	5	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:26864332G>C	ENST00000226247.2	+	8	1854	c.1825G>C	c.(1825-1827)Ggt>Cgt	p.G609R	FOXN1_ENST00000579795.1_Missense_Mutation_p.G609R	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	609					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CGGGGCACTGGGTGACCTGCA	0.687													C	26864332	G	C	26864332	3	2	494	1	0	0	0	0	1	0	0	0	6070	1232	43	4	1855	4	FOXN1	17	26864332	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	16434229	26864332	54330878	59	45425											
EFCAB3	146779	broad.mit.edu	37	chr17	60483969	60483969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaagcatggctgcctttgCtaatgctgcccggattgcaa	8	11	10	12	1	1	0	1	0	0	0	1	1	1	1	2	2	6	5	2	2	3	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:60483969C>T	ENST00000450662.2	+	9	844	c.773C>T	c.(772-774)gCt>gTt	p.A258V	EFCAB3_ENST00000305286.3_Missense_Mutation_p.A206V	NM_001144933.1	NP_001138405.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	206							calcium ion binding			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			GCTGCCTTTGCTAATGCTGCC	0.428													T	60483969	C	T	60483969	3	4	494	1	0	0	0	0	1	0	0	0	4974	797	28	2	807	2	EFCAB3	17	60483969	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	33619637	60483969	20711241	60	45426											
DDX42	11325	broad.mit.edu	37	chr17	61864442	61864442	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtggtcctggcactaaGcgaggatttggctttggagg	9	10	16	6	1	0	0	0	0	0	0	1	3	1	2	1	7	1	2	1	7	2	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:61864442G>A	ENST00000578681.1	+	3	634	c.33G>A	c.(31-33)aaG>aaA	p.K11K	DDX42_ENST00000359353.5_Intron|DDX42_ENST00000457800.2_Silent_p.K11K|DDX42_ENST00000389924.2_Silent_p.K11K|DDX42_ENST00000583590.1_Silent_p.K11K	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	11					protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CTGGCACTAAGCGAGGATTTG	0.448													A	61864442	G	A	61864442	2	1	494	1	0	0	0	0	0	0	0	1	4396	962	34	2		2	DDX42	17	61864442	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	1380473	61864442	19330768	61	45427											
ARSG	22901	broad.mit.edu	37	chr17	66391215	66391215	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcttgttatttccgcagcGtgctggacatttttccaact	7	16	8	10	2	1	0	0	0	1	0	3	1	3	1	2	1	3	3	2	1	2	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:66391215G>A	ENST00000448504.2	+	10	1889	c.1093G>A	c.(1093-1095)Gtg>Atg	p.V365M	ARSG_ENST00000582154.1_3'UTR|ARSG_ENST00000452479.2_Splice_Site_p.V201M	NM_014960.4	NP_055775.2	Q96EG1	ARSG_HUMAN	arylsulfatase G	365					sulfur compound metabolic process	endoplasmic reticulum|extracellular space|lysosome	arylsulfatase activity|metal ion binding			NS(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	26			BRCA - Breast invasive adenocarcinoma(8;5.34e-07)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTTCCGCAGCGTGCTGGACAT	0.597													A	66391215	G	A	66391215	5	1	494	1	0	0	0	0	0	0	1	0	997	1159	40	1	1127	1	ARSG	17	66391215	Splice_Site	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	4526773	66391215	14803995	62	45428											
TIMP2	7077	broad.mit.edu	37	chr17	76851869	76851869	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctggtgcccgttgatgttCttctctgtgacccagtccat	4	14	10	13	1	2	2	0	2	2	0	4	2	3	2	4	1	1	2	4	1	0	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr17:76851869C>T	ENST00000262768.7	-	5	841	c.543G>A	c.(541-543)aaG>aaA	p.K181K	TIMP2_ENST00000586057.1_Silent_p.K104K|RP11-323N12.5_ENST00000587434.1_RNA|TIMP2_ENST00000585421.1_Silent_p.K104K|TIMP2_ENST00000536189.2_Silent_p.K104K	NM_003255.4	NP_003246.1	P16035	TIMP2_HUMAN	TIMP metallopeptidase inhibitor 2	181							metal ion binding|metalloendopeptidase inhibitor activity			central_nervous_system(2)	2			BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.194)			CGTTGATGTTCTTCTCTGTGA	0.642													T	76851869	C	T	76851869	2	4	494	1	0	0	0	0	0	0	0	1	16018	912	32	2		2	TIMP2	17	76851869	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	10460654	76851869	4343341	63	45429											
AQP4	361	broad.mit.edu	37	chr18	24445621	24445621	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaaggcaaagaaggacttaCccccaccgccttgctgtggg	10	8	11	12	1	0	1	0	0	0	1	0	2	0	2	4	3	2	2	4	3	4	3			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:24445621C>A	ENST00000383168.4	-	1	161		c.e1+1		AQP4-AS1_ENST00000582605.1_RNA|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4						cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GAAGGACTTACCCCCACCGCC	0.517													A	24445621	C	A	24445621	5	1	494	1	0	0	0	0	0	0	1	0	831	521	18	4	958	4	AQP4	18	24445621	Splice_Site	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		24445621	53631627	64	45430											
FHOD3	80206	broad.mit.edu	37	chr18	34156464	34156464	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgaatggagtaataaacCgcaatgaaaccattcagtgg	17	8	10	6	1	1	2	1	2	0	0	1	4	1	3	2	2	2	2	2	2	7	3	rs143579901	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:34156464C>T	ENST00000257209.4	+	6	684	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	FHOD3_ENST00000590592.1_Missense_Mutation_p.R188C|FHOD3_ENST00000359247.4_Missense_Mutation_p.R188C|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000445677.1_Missense_Mutation_p.R188C	NM_025135.2	NP_079411.2	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	188	GBD/FH3.				actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				AGTAATAAACCGCAATGAAAC	0.373													T	34156464	C	T	34156464	3	4	494	1	0	0	0	0	1	0	0	0	5932	652	23	1	584	1	FHOD3	18	34156464	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	9710843	34156464	43920784	65	45431											
SEC11C	90701	broad.mit.edu	37	chr18	56816768	56816768	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattaccaggttttaaacttCgccatgatcgtgtcttctgc	8	16	7	10	2	2	1	0	1	2	0	4	1	2	1	2	1	3	1	2	1	4	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:56816768C>T	ENST00000587834.1	+	2	583	c.111C>T	c.(109-111)ttC>ttT	p.F37F	SEC11C_ENST00000588875.1_Silent_p.F37F	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	37					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				TTTTAAACTTCGCCATGATCG	0.493													T	56816768	C	T	56816768	2	4	494	1	0	0	0	0	0	0	0	1	14072	883	31	1		1	SEC11C	18	56816768	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	22660304	56816768	21260480	66	45432											
SERPINB7	8710	broad.mit.edu	37	chr18	61449715	61449715	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcctctctgagcctcttcGctgccctggccctggtccgc	1	13	9	18	2	2	1	0	1	2	0	6	1	4	1	5	2	2	1	5	2	0	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:61449715G>A	ENST00000398019.2	+	2	434	c.109G>A	c.(109-111)Gct>Act	p.A37T	SERPINB7_ENST00000540675.1_Missense_Mutation_p.A37T|SERPINB7_ENST00000336429.2_Missense_Mutation_p.A37T|SERPINB7_ENST00000546027.1_Missense_Mutation_p.A37T	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	37					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GAGCCTCTTCGCTGCCCTGGC	0.483													A	61449715	G	A	61449715	3	1	494	1	0	0	0	0	1	0	0	0	14199	1087	38	1	111	1	SERPINB7	18	61449715	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	4632947	61449715	16627533	67	45433											
ZNF236	7776	broad.mit.edu	37	chr18	74667996	74667996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagccagagaaggagggccGggcgcaccagtgcctggagt	9	3	17	12	2	0	1	0	0	0	1	0	4	0	3	5	4	2	1	5	4	1	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr18:74667996G>A	ENST00000253159.8	+	28	5162	c.4964G>A	c.(4963-4965)cGg>cAg	p.R1655Q	ZNF236_ENST00000320610.9_Missense_Mutation_p.R1657Q	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	1655					cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		AAGGAGGGCCGGGCGCACCAG	0.637													A	74667996	G	A	74667996	3	1	494	1	0	0	0	0	1	0	0	0	17890	1116	39	1	5074	1	ZNF236	18	74667996	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	13218281	74667996	3409252	68	45434											
ABCA7	10347	broad.mit.edu	37	chr19	1053821	1053821	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggaggagtgtgctgcggAcacagatatggagggtgcgg	8	7	21	5	2	0	1	0	0	0	1	0	5	0	5	0	7	3	1	0	7	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1053821A>C	ENST00000263094.6	+	25	3689	c.3458A>C	c.(3457-3459)gAc>gCc	p.D1153A	ABCA7_ENST00000433129.1_Missense_Mutation_p.D1153A|ABCA7_ENST00000435683.2_Missense_Mutation_p.D1015A	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1153					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		TGTGCTGCGGACACAGATATG	0.637													C	1053821	A	C	1053821	3	2	494	1	0	0	0	0	1	0	0	0	37	275	10	5	3552	5	ABCA7	19	1053821	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		1053821	58075162	69	45435											
ATP8B3	148229	broad.mit.edu	37	chr19	1785489	1785489	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccatggtgatggacagcagGcaagacagggccaccacgac	12	4	13	12	1	0	2	0	1	0	1	1	4	1	3	3	4	1	2	3	4	1	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:1785489G>A	ENST00000539485.1	-	26	3635	c.3402C>T	c.(3400-3402)tgC>tgT	p.C1134C	ATP8B3_ENST00000310127.6_Silent_p.C1124C|ATP8B3_ENST00000525591.1_Silent_p.C1087C			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1124					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		TGGACAGCAGGCAAGACAGGG	0.647													A	1785489	G	A	1785489	2	1	494	1	0	0	0	0	0	0	0	1	1201	1195	42	2		2	ATP8B3	19	1785489	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	731668	1785489	57343494	70	45436											
KANK3	256949	broad.mit.edu	37	chr19	8389602	8389602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcactggcacacatcagcGctgtggccccatccgcatcc	8	7	8	18	2	2	0	2	0	0	0	4	0	4	0	4	2	1	3	4	2	0	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:8389602G>A	ENST00000330915.3	-	9	2260	c.2195C>T	c.(2194-2196)gCg>gTg	p.A732V	KANK3_ENST00000593649.1_Missense_Mutation_p.A732V	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	732										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						ACACATCAGCGCTGTGGCCCC	0.637													A	8389602	G	A	8389602	3	1	494	1	0	0	0	0	1	0	0	0	8036	1087	38	1	282	1	KANK3	19	8389602	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	6604113	8389602	50739381	71	45437											
OR7C2	26658	broad.mit.edu	37	chr19	15052351	15052351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactttctcctcctgggattCgcagaggactctgacatgca	9	11	9	12	1	2	2	0	1	2	1	5	4	3	4	2	2	2	2	2	2	1	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:15052351C>T	ENST00000248072.3	+	1	51	c.51C>T	c.(49-51)ttC>ttT	p.F17F		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	17					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					TCCTGGGATTCGCAGAGGACT	0.498													T	15052351	C	T	15052351	2	4	494	1	0	0	0	0	0	0	0	1	11294	883	31	1		1	OR7C2	19	15052351	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6662749	15052351	44076632	72	45438											
ZNF492	57615	broad.mit.edu	37	chr19	22847685	22847685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcaaagcttttaacctatCgtcacaacttactacacata	14	12	4	11	1	1	0	1	0	0	0	2	0	1	0	1	1	5	2	1	1	7	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:22847685C>T	ENST00000456783.2	+	4	1458	c.1214C>T	c.(1213-1215)tCg>tTg	p.S405L		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TTTAACCTATCGTCACAACTT	0.383													T	22847685	C	T	22847685	3	4	494	1	0	0	0	0	1	0	0	0	18044	893	31	1	1224	1	ZNF492	19	22847685	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	7795334	22847685	36281298	73	45439											
ATP4A	495	broad.mit.edu	37	chr19	36046393	36046393	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctgggggctggtgcgCgcaaacaccatctcggggtg	5	9	16	11	3	2	0	0	0	2	0	3	0	2	0	1	5	3	3	1	5	1	1	rs143513836	byFrequency	TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:36046393C>T	ENST00000262623.3	-	14	2134	c.2106G>A	c.(2104-2106)gcG>gcA	p.A702A		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	702					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	GGCTGGTGCGCGCAAACACCA	0.667													T	36046393	C	T	36046393	2	4	494	1	0	0	0	0	0	0	0	1	1150	755	27	1		1	ATP4A	19	36046393	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	13198708	36046393	23082590	74	45440											
ZNF540	163255	broad.mit.edu	37	chr19	38103617	38103617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggaagacctttcgagttcGttctcaaattagtctacata	11	14	8	8	2	2	1	1	0	2	1	5	3	2	2	1	1	1	2	1	1	5	6			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:38103617G>A	ENST00000592533.1	+	5	1768	c.1436G>A	c.(1435-1437)cGt>cAt	p.R479H	ZNF540_ENST00000589117.1_Missense_Mutation_p.R447H|ZNF540_ENST00000343599.5_Missense_Mutation_p.R479H|ZNF540_ENST00000316433.4_Missense_Mutation_p.R479H	NM_152606.4	NP_689819.1			zinc finger protein 540											breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCGAGTTCGTTCTCAAATT	0.398													A	38103617	G	A	38103617	3	1	494	1	0	0	0	0	1	0	0	0	18076	1145	40	1	1450	1	ZNF540	19	38103617	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	2057224	38103617	21025366	75	45441											
PRX	57716	broad.mit.edu	37	chr19	40900042	40900043	+	Frame_Shift_Del	DEL	TT	TT	-																															ggaagcggaacttgggtgacTtctctctgacgggggacttg																										TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:40900042_40900043delTT	ENST00000324001.7	-	7	4486_4487	c.4216_4217delAA	c.(4216-4218)aagfs	p.K1406fs	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1406					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTTGGGTGACTTCTCTCTGACG	0.688													-	40900043	TT	-	40900042	7	5	494	1	0	1	0	1	0	0	0	0	12727	1609	56	0	172	0	PRX	19	40900042	Frame_Shift_Del	DEL	TT	TCGA-FG-A4MW-01A-11D-A26M-08	2796425	40900042	18228941	76	45442											
SNRPA	6626	broad.mit.edu	37	chr19	41268829	41268829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgccgatgactcaggcGccccgcattatgcaccacat	9	7	9	16	4	1	1	1	1	0	0	1	2	1	1	5	1	2	2	5	1	1	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:41268829G>A	ENST00000243563.3	+	4	1000	c.450G>A	c.(448-450)gcG>gcA	p.A150A		NM_004596.4	NP_004587.1	P09012	SNRPA_HUMAN	small nuclear ribonucleoprotein polypeptide A	150	Pro-rich.					nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			TGACTCAGGCGCCCCGCATTA	0.657													A	41268829	G	A	41268829	2	1	494	1	0	0	0	0	0	0	0	1	14953	1074	38	1		1	SNRPA	19	41268829	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	368787	41268829	17860154	77	45443											
ZNF226	7769	broad.mit.edu	37	chr19	44681060	44681060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagttcgtatcttcaaatcCatcagaaggcccacagtata	15	10	6	10	1	3	1	2	0	1	1	5	1	4	1	2	1	0	3	2	1	6	5			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr19:44681060C>T	ENST00000590089.1	+	7	2012	c.1645C>T	c.(1645-1647)Cat>Tat	p.H549Y	ZNF226_ENST00000454662.2_Missense_Mutation_p.H549Y|ZNF226_ENST00000337433.5_Missense_Mutation_p.H549Y|ZNF226_ENST00000588883.1_3'UTR			Q9NYT6	ZN226_HUMAN	zinc finger protein 226	549					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						Prostate(69;0.0352)|all_neural(266;0.202)				TCTTCAAATCCATCAGAAGGC	0.443													T	44681060	C	T	44681060	3	4	494	1	0	0	0	0	1	0	0	0	17881	594	21	2	1713	2	ZNF226	19	44681060	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	3412231	44681060	14447923	78	45444											
ISM1	140862	broad.mit.edu	37	chr20	13280078	13280078	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcggacgaggactacatcaAgcagttccaagaggccaggg	12	5	13	11	2	1	1	1	0	0	1	3	4	2	3	2	4	2	2	2	4	3	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:13280078A>G	ENST00000262487.4	+	6	1373	c.1367A>G	c.(1366-1368)aAg>aGg	p.K456R	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GACTACATCAAGCAGTTCCAA	0.567													G	13280078	A	G	13280078	3	3	494	1	0	0	0	0	1	0	0	0	7918	72	3	3	1389	3	ISM1	20	13280078	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		13280078	49745442	79	45445											
RIN2	54453	broad.mit.edu	37	chr20	19945627	19945627	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggctcaggaatcagtttCgcagatttattccggctcat	10	12	10	9	2	3	1	3	0	0	1	5	3	4	2	1	3	0	4	1	3	3	4			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr20:19945627C>T	ENST00000255006.6	+	6	791	c.642C>T	c.(640-642)ttC>ttT	p.F214F	RIN2_ENST00000484638.1_Intron|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	165					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						GAATCAGTTTCGCAGATTTAT	0.478													T	19945627	C	T	19945627	2	4	494	1	0	0	0	0	0	0	0	1	13463	883	31	1		1	RIN2	20	19945627	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	6665549	19945627	43079893	80	45446											
CABIN1	23523	broad.mit.edu	37	chr22	24451502	24451502	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagttaacgtgatccagccaAgcactgtcagcaccaaccca	13	6	7	15	1	1	1	1	1	0	0	2	1	2	1	4	0	5	3	4	0	3	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:24451502A>G	ENST00000398319.2	+	9	1358	c.973A>G	c.(973-975)Agc>Ggc	p.S325G	CABIN1_ENST00000405822.2_Missense_Mutation_p.S275G|CABIN1_ENST00000263119.5_Missense_Mutation_p.S325G	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	325					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GATCCAGCCAAGCACTGTCAG	0.577													G	24451502	A	G	24451502	3	3	494	1	0	0	0	0	1	0	0	0	2554	72	3	3	1003	3	CABIN1	22	24451502	Missense_Mutation	SNP	A	TCGA-FG-A4MW-01A-11D-A26M-08		24451502	26853064	81	45447											
MYO18B	84700	broad.mit.edu	37	chr22	26164406	26164406	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagactcatccccatgacGcccccccttgcaagacctct	10	7	6	18	1	2	4	1	1	1	3	3	4	3	4	6	0	1	1	6	0	2	1			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chr22:26164406G>A	ENST00000335473.7	+	4	773	c.523G>A	c.(523-525)Gcc>Acc	p.A175T	MYO18B_ENST00000536101.1_Missense_Mutation_p.A175T|MYO18B_ENST00000407587.2_Missense_Mutation_p.A175T	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	175						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						TCCCCATGACGCCCCCCCTTG	0.597													A	26164406	G	A	26164406	3	1	494	1	0	0	0	0	1	0	0	0	10142	1087	38	1	533	1	MYO18B	22	26164406	Missense_Mutation	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08	1712904	26164406	25140160	82	45448											
KIAA1210	57481	broad.mit.edu	37	chrX	118284501	118284501	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccaggaaggagagaagcGtgaaaggcagagaagcctcg	14	2	17	8	3	0	3	0	1	0	2	1	7	0	5	2	4	2	1	2	4	4	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:118284501G>A	ENST00000402510.2	-	1	41	c.42C>T	c.(40-42)caC>caT	p.H14H		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	14										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GGAGAGAAGCGTGAAAGGCAG	0.642													A	118284501	G	A	118284501	2	1	494	1	0	0	0	0	0	0	0	1	8272	1136	40	1		1	KIAA1210	23	118284501	Silent	SNP	G	TCGA-FG-A4MW-01A-11D-A26M-08		118284501	36986059	83	45449											
CUL4B	8450	broad.mit.edu	37	chrX	119678463	119678465	+	In_Frame_Del	DEL	ATA	ATA	-																															tctgcactttctgatcacttAtaatatgagccctaaataac																								rs144312827		TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:119678463_119678465delATA	ENST00000371322.5	-	6	1015_1017	c.954_956delTAT	c.(952-957)attata>ata	p.318_319II>I	CUL4B_ENST00000336592.6_In_Frame_Del_p.323_324II>I|CUL4B_ENST00000404115.3_In_Frame_Del_p.336_337II>I	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	336					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTGATCACTTATAATATGAGCCC	0.35													-	119678465	ATA	-	119678463	7	5	494	1	0	1	0	1	0	0	0	0	4091	449	16	0	1791	0	CUL4B	23	119678463	In_Frame_Del	DEL	ATA	TCGA-FG-A4MW-01A-11D-A26M-08	1393962	119678463	35592097	84	45450											
MAGEA11	4110	broad.mit.edu	37	chrX	148798319	148798319	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggggtccaagggcccaCgctgagaccagcaagatgaa	11	5	14	11	1	0	3	0	2	0	2	1	4	1	3	3	3	1	2	3	3	3	0			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrX:148798319C>T	ENST00000355220.5	+	5	1275	c.1173C>T	c.(1171-1173)caC>caT	p.H391H	MAGEA11_ENST00000333104.4_Silent_p.H362H	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	391	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAAGGGCCCACGCTGAGACCA	0.527													T	148798319	C	T	148798319	2	4	494	1	0	0	0	0	0	0	0	1	9236	535	19	1		1	MAGEA11	23	148798319	Silent	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08	29119856	148798319	6472241	85	45451											
TBL1Y	90665	broad.mit.edu	37	chrY	6911098	6911098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaatgggacactagtgccaCcgtctgccctcatctccatt	8	11	7	15	1	4	0	2	0	2	0	5	1	4	1	4	1	2	0	4	1	2	2			TCGA-FG-A4MW-01A-11D-A26M-08	TCGA-FG-A4MW-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	599c96ab-fdfb-4322-aea4-4915a5d98975	bf3e7591-0488-4648-b6ce-4630ce883551	g.chrY:6911098C>T	ENST00000383032.1	+	7	783	c.136C>T	c.(136-138)Ccg>Tcg	p.P46S	TBL1Y_ENST00000346432.3_Missense_Mutation_p.P46S|TBL1Y_ENST00000355162.2_Missense_Mutation_p.P46S	NM_033284.1	NP_150600.1	Q9BQ87	TBL1Y_HUMAN	transducin (beta)-like 1, Y-linked	46	F-box-like.				transcription, DNA-dependent					kidney(1)|large_intestine(4)|lung(2)|skin(1)	8						ACTAGTGCCACCGTCTGCCCT	0.532													T	6911098	C	T	6911098	3	4	494	1	0	0	0	0	1	0	0	0	15741	507	18	2	142	2	TBL1Y	24	6911098	Missense_Mutation	SNP	C	TCGA-FG-A4MW-01A-11D-A26M-08		6911098	52462468	86	45452											
RAD51AP2	729475	broad.mit.edu	37	chr2	17699300	17699300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagaccttcctgaagccCtcaaatcagaatcaggactt	12	9	6	14	0	4	3	4	1	0	2	5	4	5	4	4	1	1	0	4	1	3	2			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:17699300C>A	ENST00000399080.2	-	1	406	c.383G>T	c.(382-384)aGg>aTg	p.R128M		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	128										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAGCCCTCAAATCAGA	0.488													A	17699300	C	A	17699300	3	1	495	1	0	0	0	0	1	0	0	0	13075	681	24	4	3108	4	RAD51AP2	2	17699300	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17699300	225500073	1	45453											
FAM179A	165186	broad.mit.edu	37	chr2	29222093	29222093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgaacaacgaggaaccGtcacagctcctgcgtggact	10	7	11	13	3	1	1	1	1	0	0	2	4	2	3	2	2	6	2	2	2	3	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr2:29222093G>A	ENST00000379558.4	+	4	537	c.186G>A	c.(184-186)ccG>ccA	p.P62P	FAM179A_ENST00000403861.2_Silent_p.P62P	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	62							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACGAGGAACCGTCACAGCTCC	0.627													A	29222093	G	A	29222093	2	1	495	1	0	0	0	0	0	0	0	1	5550	1132	40	1		1	FAM179A	2	29222093	Silent	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	11522793	29222093	213977280	2	45454											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	495	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08	179891019	209113112	34086261	3	45455											
SLC6A20	54716	broad.mit.edu	37	chr3	45811778	45811778	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgcttgggtaggcagatgCgaggtagcccttcacctgct	6	12	13	10	1	1	1	1	0	0	1	1	2	1	1	2	3	4	5	2	3	2	5			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr3:45811778C>T	ENST00000358525.4	-	7	1136	c.1021G>A	c.(1021-1023)Gca>Aca	p.A341T	SLC6A20_ENST00000456124.2_Missense_Mutation_p.A341T|SLC6A20_ENST00000353278.4_Missense_Mutation_p.A304T	NM_020208.3	NP_064593.1	Q9NP91	S6A20_HUMAN	solute carrier family 6 (proline IMINO transporter), member 20	341					cellular nitrogen compound metabolic process|glycine transport|proline transport	apical plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|large_intestine(6)|ovary(2)|skin(2)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.01)|KIRC - Kidney renal clear cell carcinoma(197;0.0225)|Kidney(197;0.0267)		TAGGCAGATGCGAGGTAGCCC	0.522													T	45811778	C	T	45811778	3	4	495	1	0	0	0	0	1	0	0	0	14778	768	27	1	777	1	SLC6A20	3	45811778	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		45811778	152210652	4	45456											
REV3L	5980	broad.mit.edu	37	chr6	111694047	111694050	+	Frame_Shift_Del	DEL	TAAA	TAAA	-																															tttcttgaaacatacagttcTaaatcttcacaggccacgtc																										TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr6:111694047_111694050delTAAA	ENST00000435970.1	-	15	6090_6093	c.5274_5277delTTTA	c.(5272-5277)gatttafs	p.DL1758fs	REV3L_ENST00000368805.1_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000368802.3_Frame_Shift_Del_p.DL1836fs|REV3L_ENST00000358835.3_Frame_Shift_Del_p.DL1836fs			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1836					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CATACAGTTCTAAATCTTCACAGG	0.417								DNA polymerases (catalytic subunits)					-	111694050	TAAA	-	111694047	7	5	495	1	0	1	0	1	0	0	0	0	13328	1519	53	0	3961	0	REV3L	6	111694047	Frame_Shift_Del	DEL	TAAA	TCGA-FG-A4MX-01A-11D-A26M-08		111694047	59421020	5	45457											
CFTR	1080	broad.mit.edu	37	chr7	117232112	117232112	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatttttatgggacatttTcagaactccaaaatctacag	13	14	6	8	0	2	1	1	0	1	1	3	2	3	2	1	1	2	1	1	1	6	7	rs121908777		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:117232112T>C	ENST00000003084.6	+	14	2023	c.1891T>C	c.(1891-1893)Tca>Cca	p.S631P	CFTR_ENST00000454343.1_Missense_Mutation_p.S570P	NM_000492.3	NP_000483.3	P13569	CFTR_HUMAN	cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)	631	ABC transporter 1.				respiratory gaseous exchange	apical plasma membrane|basolateral plasma membrane|chloride channel complex|early endosome membrane	ATP binding|ATP-binding and phosphorylation-dependent chloride channel activity|channel-conductance-controlling ATPase activity|chloride channel regulator activity|enzyme binding|PDZ domain binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(15)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(9)	69	Lung NSC(10;0.00148)|all_lung(10;0.00171)		STAD - Stomach adenocarcinoma(10;0.000534)		Bumetanide(DB00887)|Glibenclamide(DB01016)	TGGGACATTTTCAGAACTCCA	0.338									Cystic Fibrosis				C	117232112	T	C	117232112	3	2	495	1	0	0	0	0	1	0	0	0	3324	1783	62	3	1945	3	CFTR	7	117232112	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		117232112	41906551	6	45458											
FSCN3	29999	broad.mit.edu	37	chr7	127240376	127240376	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactggcccccaatggcttcTacatgcgagccgaccaaagt	10	8	9	14	2	1	0	0	0	1	0	1	2	1	0	4	2	4	1	4	2	4	3			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr7:127240376T>C	ENST00000265825.5	+	6	1639	c.1420T>C	c.(1420-1422)Tac>Cac	p.Y474H	FSCN3_ENST00000420086.2_Missense_Mutation_p.L338P	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	474						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						CAATGGCTTCTACATGCGAGC	0.517													C	127240376	T	C	127240376	3	2	495	1	0	0	0	0	1	0	0	0	6121	1522	53	3	1442	3	FSCN3	7	127240376	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	10008264	127240376	31898287	7	45459											
EXT1	2131	broad.mit.edu	37	chr8	118842536	118842536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaagaattgtgtctgcTgtctaagtgctaggatttta	10	14	9	8	0	2	1	0	0	2	1	2	2	2	2	1	1	2	2	1	1	5	5			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr8:118842536T>C	ENST00000378204.2	-	4	2023	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_000127.2	NP_000118.2	Q16394	EXT1_HUMAN	exostosin glycosyltransferase 1	406					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction|skeletal system development	Golgi membrane|integral to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|endometrium(7)|kidney(1)|large_intestine(12)|lung(10)|ovary(3)|prostate(1)|stomach(1)|urinary_tract(2)	38	all_cancers(13;2.36e-26)|Lung NSC(37;5.02e-07)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.012)			TTGTGTCTGCTGTCTAAGTGC	0.378			"Mis, N, F, S"			"exostoses, osteosarcoma"			Langer-Giedion syndrome;Hereditary Multiple Exostoses				C	118842536	T	C	118842536	3	2	495	1	0	0	0	0	1	0	0	0	5365	1580	55	3	1055	3	EXT1	8	118842536	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08		118842536	27521486	8	45460											
FREM1	158326	broad.mit.edu	37	chr9	14805068	14805068	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgacgtacaccgtgaactgGtcggcagttggttctatcct	7	12	12	10	3	1	2	0	2	1	0	3	2	2	2	2	3	2	4	2	3	3	4			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr9:14805068G>T	ENST00000380881.4	-	20	4175	c.3360C>A	c.(3358-3360)gaC>gaA	p.D1120E	FREM1_ENST00000422223.2_Missense_Mutation_p.D1119E|FREM1_ENST00000380880.3_Missense_Mutation_p.D1119E			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	1119					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		CCGTGAACTGGTCGGCAGTTG	0.438													T	14805068	G	T	14805068	3	4	495	1	0	0	0	0	1	0	0	0	6096	1252	44	4	3308	4	FREM1	9	14805068	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		14805068	126408363	9	45461											
LGI1	9211	broad.mit.edu	37	chr10	95557288	95557288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctcctcgttccaggatAttcagaggatgccatcgcga	9	9	12	11	3	1	1	1	0	0	1	5	5	3	3	3	3	1	2	3	3	1	3			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:95557288A>G	ENST00000371418.4	+	8	1662	c.1402A>G	c.(1402-1404)Att>Gtt	p.I468V	LGI1_ENST00000542308.1_Missense_Mutation_p.I420V|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	468					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTTCCAGGATATTCAGAGGAT	0.428													G	95557288	A	G	95557288	3	3	495	1	0	0	0	0	1	0	0	0	8811	449	16	3	1432	3	LGI1	10	95557288	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08		95557288	39977459	10	45462											
PDCD11	22984	broad.mit.edu	37	chr10	105185105	105185105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggtcacagggactgTcaagtccattaagcctaccc	11	8	10	12	0	2	0	2	0	0	0	3	2	3	2	3	3	2	0	3	3	3	2			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr10:105185105T>C	ENST00000369797.3	+	20	3222	c.3128T>C	c.(3127-3129)gTc>gCc	p.V1043A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1043	S1 motif 9.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACAGGGACTGTCAAGTCCATT	0.502													C	105185105	T	C	105185105	3	2	495	1	0	0	0	0	1	0	0	0	11693	1667	58	3	3202	3	PDCD11	10	105185105	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	9627817	105185105	30349642	11	45463											
ZMYM2	7750	broad.mit.edu	37	chr13	20656935	20656935	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttaagggtcaatattctctCgagttgaagaagactatctc	12	14	8	7	1	3	3	1	1	2	2	6	4	3	3	0	1	0	1	0	1	6	6			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr13:20656935C>T	ENST00000382869.3	+	23	3834	c.3583C>T	c.(3583-3585)Cga>Tga	p.R1195*	ZMYM2_ENST00000382871.2_Nonsense_Mutation_p.R1195*|ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382874.2_Nonsense_Mutation_p.R1195*	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		AATATTCTCTCGAGTTGAAGA	0.313													T	20656935	C	T	20656935	4	4	495	1	0	0	0	0	0	1	0	0	17801	876	31	1	3665	1	ZMYM2	13	20656935	Nonsense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		20656935	94512943	12	45464											
CCNB2	9133	broad.mit.edu	37	chr15	59409442	59409442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttaggttgatgttgaacagCacactttagccaagtatttg	11	14	9	7	0	0	2	0	2	0	0	0	2	0	2	1	1	3	4	1	1	5	7			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:59409442C>T	ENST00000288207.2	+	7	1041	c.850C>T	c.(850-852)Cac>Tac	p.H284Y	CCNB2_ENST00000559622.1_Intron	NM_004701.3	NP_004692.1	O95067	CCNB2_HUMAN	cyclin B2	284					cell cycle checkpoint|cell division|G2/M transition of mitotic cell cycle|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	centrosome|cytosol|nucleus	protein kinase binding			kidney(4)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	9						TGTTGAACAGCACACTTTAGC	0.423													T	59409442	C	T	59409442	3	4	495	1	0	0	0	0	1	0	0	0	2943	710	25	2	876	2	CCNB2	15	59409442	Missense_Mutation	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		59409442	43121950	13	45465											
BBS4	585	broad.mit.edu	37	chr15	73028230	73028230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagggcgagaagaagaacGccctggcccaatatcaggag	14	3	13	11	2	1	3	1	0	0	3	1	5	1	4	3	3	1	0	3	3	5	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr15:73028230G>A	ENST00000268057.4	+	14	1212	c.1171G>A	c.(1171-1173)Gcc>Acc	p.A391T	BBS4_ENST00000542334.1_Missense_Mutation_p.A219T|BBS4_ENST00000395205.2_Missense_Mutation_p.A399T|BBS4_ENST00000539603.1_Missense_Mutation_p.A379T	NM_033028.4	NP_149017.2	Q96RK4	BBS4_HUMAN	Bardet-Biedl syndrome 4	391	Required for localization to centrosomes.				adult behavior|brain morphogenesis|cell cycle cytokinesis|centrosome organization|cerebral cortex development|convergent extension involved in gastrulation|dendrite development|fat cell differentiation|heart looping|hippocampus development|intracellular transport|maintenance of protein location in nucleus|melanosome transport|microtubule anchoring at centrosome|neural tube closure|nonmotile primary cilium assembly|photoreceptor cell maintenance|pigment granule aggregation in cell center|positive regulation of flagellum assembly|regulation of cilium beat frequency involved in ciliary motility|regulation of cytokinesis|regulation of lipid metabolic process|retina homeostasis|retinal rod cell development|sensory perception of smell|sensory processing|spermatid development|striatum development	BBSome|centriolar satellite|centriole|cilium membrane|microtubule basal body|motile cilium|nonmotile primary cilium|nucleus|pericentriolar material	alpha-tubulin binding|beta-tubulin binding|dynactin binding|microtubule motor activity			autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|prostate(2)|urinary_tract(1)	19						GAAGAAGAACGCCCTGGCCCA	0.483									Bardet-Biedl syndrome				A	73028230	G	A	73028230	3	1	495	1	0	0	0	0	1	0	0	0	1344	1087	38	1	1225	1	BBS4	15	73028230	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	13618788	73028230	29503162	14	45466											
TP53	7157	broad.mit.edu	37	chr17	7578466	7578466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggccatggcgcggacgcggGtgccgggcgggggtgtggaa	4	5	23	9	6	0	0	0	0	0	0	0	2	0	2	2	8	1	0	2	8	1	0			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr17:7578466G>T	ENST00000420246.2	-	5	596	c.464C>A	c.(463-465)aCc>aAc	p.T155N	TP53_ENST00000455263.2_Missense_Mutation_p.T155N|TP53_ENST00000445888.2_Missense_Mutation_p.T155N|TP53_ENST00000359597.4_Missense_Mutation_p.T155N|TP53_ENST00000413465.2_Missense_Mutation_p.T155N|TP53_ENST00000269305.4_Missense_Mutation_p.T155N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	155	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> M (in a sporadic cancer; somatic mutation).|T -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.T155N(22)|p.T155I(14)|p.0?(8)|p.?(5)|p.P152fs*14(4)|p.G154fs*14(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.P151_V173del23(1)|p.G154_R156delGTR(1)|p.T155fs*25(1)|p.R156_A161del(1)|p.D148_T155delDSTPPPGT(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T23N(1)|p.T62N(1)|p.T62I(1)|p.T23I(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.T155_R156delTR(1)|p.T155S(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)		GCGGACGCGGGTGCCGGGCGG	0.612		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)			T	7578466	G	T	7578466	3	4	495	1	0	0	0	0	1	0	0	0	16482	1261	44	4	834	4	TP53	17	7578466	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08		7578466	73616744	15	45467											
MAP1S	55201	broad.mit.edu	37	chr19	17845207	17845207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgtccatgcaggatgaCgccttcccggcctgcaaggt	7	9	13	12	2	0	1	0	1	0	0	2	2	2	2	4	4	2	2	4	4	1	1			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:17845207C>T	ENST00000324096.4	+	7	3301	c.3150C>T	c.(3148-3150)gaC>gaT	p.D1050D	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000544059.2_Silent_p.D1024D	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1050	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						TGCAGGATGACGCCTTCCCGG	0.632													T	17845207	C	T	17845207	2	4	495	1	0	0	0	0	0	0	0	1	9309	535	19	1		1	MAP1S	19	17845207	Silent	SNP	C	TCGA-FG-A4MX-01A-11D-A26M-08		17845207	41283776	16	45468											
MEIS3	56917	broad.mit.edu	37	chr19	47910360	47910360	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggttggattgatcgatcaTaggttgcacgatgcgtctcc	7	12	13	9	4	2	1	1	1	1	0	4	4	2	2	1	3	2	3	1	3	1	4			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr19:47910360T>C	ENST00000331559.5	-	10	1498	c.1057A>G	c.(1057-1059)Atg>Gtg	p.M353V	MEIS3_ENST00000559524.1_Missense_Mutation_p.M370V|MEIS3_ENST00000558555.1_Missense_Mutation_p.M324V|MEIS3_ENST00000441740.2_Missense_Mutation_p.M307V|MEIS3_ENST00000560253.1_5'UTR|MEIS3_ENST00000561293.1_Missense_Mutation_p.M370V|MEIS3_ENST00000561096.1_Missense_Mutation_p.M412V	NM_020160.2	NP_064545.1	Q99687	MEIS3_HUMAN	Meis homeobox 3	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(5)|lung(11)|prostate(1)|skin(2)	20		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000198)|OV - Ovarian serous cystadenocarcinoma(262;0.000439)|Epithelial(262;0.0113)|GBM - Glioblastoma multiforme(486;0.0223)		TGATCGATCATAGGTTGCACG	0.607													C	47910360	T	C	47910360	3	2	495	1	0	0	0	0	1	0	0	0	9544	1406	49	3	169	3	MEIS3	19	47910360	Missense_Mutation	SNP	T	TCGA-FG-A4MX-01A-11D-A26M-08	30065153	47910360	11218623	17	45469											
MN1	4330	broad.mit.edu	37	chr22	28194934	28194936	+	In_Frame_Del	DEL	TGC	TGC	-																															gctgctgctgctgctgctgtTgctgctgctgctgctgctgc																								rs45480998		TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:28194934_28194936delTGC	ENST00000302326.4	-	1	2550_2552	c.1596_1598delGCA	c.(1594-1599)cagcaa>caa	p.532_533QQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	532	Poly-Gln.						binding	p.Q532Q(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgttgctgctgctgct	0.65			T	ETV6	"AML, meningioma"								-	28194936	TGC	-	28194934	7	5	495	1	0	1	0	1	0	0	0	0	9749	1812	63	0	2372	0	MN1	22	28194934	In_Frame_Del	DEL	TGC	TCGA-FG-A4MX-01A-11D-A26M-08		28194934	23109632	18	45470											
EIF3L	51386	broad.mit.edu	37	chr22	38258980	38258980	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttgttttctttacagggggGaccttccttggagcagaggt	6	14	13	8	0	1	1	0	0	1	1	2	3	2	3	2	5	2	2	2	5	1	7			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chr22:38258980G>A	ENST00000412331.2	+	6	1022	c.440G>A	c.(439-441)gGa>gAa	p.G147E	EIF3L_ENST00000406934.1_Missense_Mutation_p.G49E|EIF3L_ENST00000476955.1_Intron|EIF3L_ENST00000381683.6_Intron	NM_016091.3	NP_057175.1	Q9Y262	EIF3L_HUMAN	eukaryotic translation initiation factor 3, subunit L	147						eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity			kidney(2)|large_intestine(3)|lung(4)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						TTACAGGGGGGACCTTCCTTG	0.388													A	38258980	G	A	38258980	3	1	495	1	0	0	0	0	1	0	0	0	5063	1174	41	2	462	2	EIF3L	22	38258980	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	10064046	38258980	13045586	19	45471											
ATRX	546	broad.mit.edu	37	chrX	76855965	76855965	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagtccatattctacttaAcatctgaaaatcttggaaaa	16	13	5	7	0	3	2	0	2	3	0	4	3	4	3	1	1	2	0	1	1	7	5			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:76855965A>C	ENST00000373344.5	-	23	5849	c.5635T>G	c.(5635-5637)Tta>Gta	p.L1879V	ATRX_ENST00000395603.3_Missense_Mutation_p.L1841V|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1879					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)	ATTCTACTTAACATCTGAAAA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76855965	A	C	76855965	3	2	495	1	0	0	0	0	1	0	0	0	1213	40	2	5	1895	5	ATRX	23	76855965	Missense_Mutation	SNP	A	TCGA-FG-A4MX-01A-11D-A26M-08		76855965	78414595	20	45472											
PCDH19	57526	broad.mit.edu	37	chrX	99551565	99551565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagccattgcctgcctcccGgataacgctgttgaccttgg	7	10	10	14	2	0	1	0	1	0	0	1	2	1	2	5	2	4	2	5	2	1	4			TCGA-FG-A4MX-01A-11D-A26M-08	TCGA-FG-A4MX-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e4f2ebb-fe7f-4c5d-8cf2-64d21c54b45e	e34ba5e5-ed6c-4d3c-b63d-1a74fe43f8f4	g.chrX:99551565G>A	ENST00000373034.4	-	6	4832	c.3157C>T	c.(3157-3159)Cgg>Tgg	p.R1053W	PCDH19_ENST00000255531.7_Missense_Mutation_p.R1006W|PCDH19_ENST00000420881.2_Missense_Mutation_p.R1005W	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	1053					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CCTGCCTCCCGGATAACGCTG	0.592													A	99551565	G	A	99551565	3	1	495	1	0	0	0	0	1	0	0	0	11590	1115	39	1	293	1	PCDH19	23	99551565	Missense_Mutation	SNP	G	TCGA-FG-A4MX-01A-11D-A26M-08	22695600	99551565	55718995	21	45473											
PDE4DIP	9659	broad.mit.edu	37	chr1	144856852	144856852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggccagggaagctgcaCgctgatctcacaagagacac	13	5	11	12	1	2	2	2	1	1	1	3	4	2	3	1	2	2	3	1	2	3	0	rs150847495	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr1:144856852C>T	ENST00000369359.4	-	43	7079	c.7041G>A	c.(7039-7041)gcG>gcA	p.A2347A	PDE4DIP_ENST00000524974.1_5'UTR|PDE4DIP_ENST00000313382.9_Silent_p.A2105A|PDE4DIP_ENST00000369356.4_Silent_p.A2211A|PDE4DIP_ENST00000530740.1_Silent_p.A2296A|PDE4DIP_ENST00000369354.3_Silent_p.A2211A			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	2211					cellular protein complex assembly	centrosome|Golgi apparatus|myofibril|nucleus	enzyme binding	p.A2211A(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		GGAAGCTGCACGCTGATCTCA	0.502			T	PDGFRB	MPD								T	144856852	C	T	144856852	2	4	496	1	0	0	0	0	0	0	0	1	11719	523	19	1		1	PDE4DIP	1	144856852	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		144856852	104393769	1	45474											
MSH2	4436	broad.mit.edu	37	chr2	47705575	47705575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaacttactgccttggccaAtcagataccaactgttaata	13	12	6	10	0	1	2	1	1	0	1	1	2	1	2	3	1	5	1	3	1	7	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:47705575A>G	ENST00000406134.1	+	14	2437	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	MSH2_ENST00000543555.1_Missense_Mutation_p.N726S|MSH2_ENST00000233146.2_Missense_Mutation_p.N792S			P43246	MSH2_HUMAN	mutS homolog 2	792					B cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|double-strand break repair|intra-S DNA damage checkpoint|isotype switching|maintenance of DNA repeat elements|male gonad development|meiotic gene conversion|meiotic mismatch repair|negative regulation of neuron apoptosis|negative regulation of reciprocal meiotic recombination|positive regulation of helicase activity|postreplication repair|response to UV-B|response to X-ray|somatic hypermutation of immunoglobulin genes	MutSalpha complex|MutSbeta complex|nuclear chromosome	ATP binding|DNA-dependent ATPase activity|double-strand/single-strand DNA junction binding|guanine/thymine mispair binding|loop DNA binding|protein C-terminus binding|protein homodimerization activity|protein kinase binding|Y-form DNA binding	p.0?(2)|p.?(2)		NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(5)|large_intestine(50)|lung(18)|ovary(5)|prostate(2)|skin(3)|small_intestine(1)|stomach(2)|urinary_tract(1)	112		all_hematologic(82;0.0359)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GCCTTGGCCAATCAGATACCA	0.393			"D, Mis, N, F, S"		"colorectal, endometrial, ovarian"	"colorectal, endometrial, ovarian"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G	47705575	A	G	47705575	3	3	496	1	0	0	0	0	1	0	0	0	9946	101	4	3	2429	3	MSH2	2	47705575	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		47705575	195493798	2	45475											
TTN	7273	broad.mit.edu	37	chr2	179592490	179592490	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acatcatccttaaaccatttTattttaaatggtggtgttcc	11	17	5	8	0	1	0	1	0	0	0	3	0	3	0	3	2	1	1	3	2	5	6			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:179592490T>C	ENST00000589042.1	-	68	20039	c.19815A>G	c.(19813-19815)atA>atG	p.I6605M	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.I5361M|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.I6288M	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6288	Ig-like 47.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAAACCATTTTATTTTAAATG	0.413													C	179592490	T	C	179592490	3	2	496	1	0	0	0	0	1	0	0	0	16837	1744	61	3	84894	3	TTN	2	179592490	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	131886915	179592490	63606883	3	45476											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	496	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	29520622	209113112	34086261	4	45477											
ALPP	250	broad.mit.edu	37	chr2	233243710	233243710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacccggacttctggaacCgcgaggcagccgaggccctg	9	4	14	14	4	1	1	0	0	1	1	1	5	1	3	4	4	3	1	4	4	2	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr2:233243710C>T	ENST00000392027.2	+	2	375	c.106C>T	c.(106-108)Cgc>Tgc	p.R36C		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	36						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		CTTCTGGAACCGCGAGGCAGC	0.632													T	233243710	C	T	233243710	3	4	496	1	0	0	0	0	1	0	0	0	548	652	23	1	112	1	ALPP	2	233243710	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	24130598	233243710	9955663	5	45478											
FANCD2	2177	broad.mit.edu	37	chr3	10083383	10083383	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctccgacttgacccaaacTtcctattgaaggtagaaaag	13	9	8	11	1	0	3	0	2	0	1	2	4	2	3	4	1	1	1	4	1	6	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:10083383T>G	ENST00000287647.3	+	10	865	c.772T>G	c.(772-774)Ttc>Gtc	p.F258V	FANCD2_ENST00000419585.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383806.1_Missense_Mutation_p.F258V|FANCD2_ENST00000383807.1_Missense_Mutation_p.F258V	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	258	Interaction with BRCA2.|Interaction with FANCE.				DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGACCCAAACTTCCTATTGAA	0.438			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	10083383	T	G	10083383	3	3	496	1	0	0	0	0	1	0	0	0	5714	1609	56	5	806	5	FANCD2	3	10083383	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		10083383	187939047	6	45479											
SEMA3B	7869	broad.mit.edu	37	chr3	50313252	50313252	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggagtggactttccagcgcGcaggggtgacagcccacacc	8	6	14	13	2	0	1	0	1	0	0	1	3	1	3	3	4	2	1	3	4	0	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:50313252G>T	ENST00000418948.1	+	0	2056							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		TTTCCAGCGCGCAGGGGTGAC	0.692													T	50313252	G	T	50313252	1	4	496	0	1	0	0	0	0	0	0	0	14118	1087	38	4		4	SEMA3B	3	50313252	RNA	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	40229869	50313252	147709178	7	45480											
EIF4G1	1981	broad.mit.edu	37	chr3	184042736	184042736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcccggcggcgctctttagGgaatatcaagtttattggag	9	11	13	8	3	2	0	1	0	1	0	2	2	2	2	1	4	1	2	1	4	5	6			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr3:184042736G>A	ENST00000342981.4	+	17	3107	c.2693G>A	c.(2692-2694)gGg>gAg	p.G898E	EIF4G1_ENST00000346169.2_Missense_Mutation_p.G897E|EIF4G1_ENST00000414031.1_Missense_Mutation_p.G857E|EIF4G1_ENST00000434061.2_Missense_Mutation_p.G702E|EIF4G1_ENST00000424196.1_Missense_Mutation_p.G904E|EIF4G1_ENST00000352767.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000319274.6_Missense_Mutation_p.G897E|EIF4G1_ENST00000382330.3_Missense_Mutation_p.G904E|EIF4G1_ENST00000427845.1_Missense_Mutation_p.G811E|EIF4G1_ENST00000441154.1_Missense_Mutation_p.G734E|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000350481.5_Missense_Mutation_p.G733E|EIF4G1_ENST00000392537.2_Missense_Mutation_p.G810E|EIF4G1_ENST00000435046.2_Missense_Mutation_p.G701E|EIF4G1_ENST00000411531.1_Missense_Mutation_p.G858E	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	897	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CGCTCTTTAGGGAATATCAAG	0.483													A	184042736	G	A	184042736	3	1	496	1	0	0	0	0	1	0	0	0	5077	1232	43	2	2752	2	EIF4G1	3	184042736	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	133729484	184042736	13979694	8	45481											
LETM1	3954	broad.mit.edu	37	chr4	1836604	1836604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagagaagtctttggtggCgctgcccttggctgccttgt	5	12	13	11	1	1	1	0	0	1	1	1	2	1	1	2	3	2	2	2	3	1	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:1836604C>T	ENST00000302787.2	-	5	1140	c.844G>A	c.(844-846)Gcc>Acc	p.A282T		NM_012318.2	NP_036450.1	O95202	LETM1_HUMAN	leucine zipper-EF-hand containing transmembrane protein 1	282	LETM1.				cristae formation	integral to membrane|mitochondrial inner membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(2)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	13			all cancers(2;0.00756)|OV - Ovarian serous cystadenocarcinoma(23;0.00989)|Epithelial(3;0.0141)			TCTTTGGTGGCGCTGCCCTTG	0.547													T	1836604	C	T	1836604	3	4	496	1	0	0	0	0	1	0	0	0	8793	768	27	1	1415	1	LETM1	4	1836604	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		1836604	189317672	9	45482											
ANKRD50	57182	broad.mit.edu	37	chr4	125590681	125590681	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgactccactcaaattcacTacttggtgaattatgactct	11	15	5	10	0	3	3	2	3	1	0	4	3	4	3	1	1	1	0	1	1	4	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr4:125590681T>C	ENST00000504087.1	-	4	4788	c.3751A>G	c.(3751-3753)Agt>Ggt	p.S1251G	ANKRD50_ENST00000515641.1_Missense_Mutation_p.S1072G	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1251	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TCAAATTCACTACTTGGTGAA	0.433													C	125590681	T	C	125590681	3	2	496	1	0	0	0	0	1	0	0	0	677	1522	53	3	542	3	ANKRD50	4	125590681	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	123754077	125590681	65563595	10	45483											
FAF2	23197	broad.mit.edu	37	chr5	175913383	175913384	+	Frame_Shift_Ins	INS	-	-	A																															acaggacagattgaatgagcINSaagagggcgtacctagtgtt																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr5:175913383_175913384insA	ENST00000261942.6	+	3	213_214	c.160_161insA	c.(160-162)caafs	p.Q54fs	FAF2_ENST00000510446.1_3'UTR	NM_014613.2	NP_055428.1	Q96CS3	FAF2_HUMAN	Fas associated factor family member 2	54					response to unfolded protein	endoplasmic reticulum|lipid particle	protein binding			breast(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	10						ATTGAATGAGCAAGAGGGCGTA	0.485													A	175913384	-	A	175913383	7	5	496	1	0	1	1	0	0	0	0	0	5415	711	25	0	170	0	FAF2	5	175913383	Frame_Shift_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08		175913383	5001877	11	45484											
AARS2	57505	broad.mit.edu	37	chr6	44269151	44269151	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagagactgtgtccacaatCagaggccccttcgagtgccg	9	7	12	13	2	1	2	1	0	0	2	3	4	2	2	4	1	1	1	4	1	1	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:44269151C>G	ENST00000244571.4	-	20	2651	c.2649G>C	c.(2647-2649)ctG>ctC	p.L883L	TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron|AARS2_ENST00000491573.1_5'UTR	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	883					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	TGTCCACAATCAGAGGCCCCT	0.602													G	44269151	C	G	44269151	2	3	496	1	0	0	0	0	0	0	0	1	20	813	29	4		4	AARS2	6	44269151	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		44269151	126845916	12	45485											
COL21A1	81578	broad.mit.edu	37	chr6	55990366	55990366	+	Splice_Site	DEL	T	T	-																															ttgtgtgatctatacttcccTttttgccataaaatccaggt																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:55990366delT	ENST00000244728.5	-	14	2046	c.1649delA	c.(1648-1650)aag>ag	p.K550fs	COL21A1_ENST00000535941.1_Splice_Site_p.K550fs|COL21A1_ENST00000370819.1_Splice_Site_p.K547fs	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	550	Collagen-like 2.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			TATACTTCCCTTTTTGCCATA	0.308													-	55990366	T	-	55990366	8	5	496	1	0	1	0	1	0	0	1	0	3711	1623	56	0	1292	0	COL21A1	6	55990366	Splice_Site	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	11721215	55990366	115124701	13	45486											
RWDD2A	112611	broad.mit.edu	37	chr6	83904244	83904244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgttttctatgtttcctaAccaaggagaagtaaaacttg	12	14	8	7	0	1	1	0	0	1	1	2	2	2	1	2	1	2	4	2	1	6	7			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:83904244A>G	ENST00000369724.4	+	2	279	c.74A>G	c.(73-75)aAc>aGc	p.N25S	RWDD2A_ENST00000539997.1_Intron	NM_033411.3	NP_219479.2	Q9UIY3	RWD2A_HUMAN	RWD domain containing 2A	25	RWD.									cervix(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	5		all_cancers(76;2.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00217)		BRCA - Breast invasive adenocarcinoma(397;0.045)		ATGTTTCCTAACCAAGGAGAA	0.443													G	83904244	A	G	83904244	3	3	496	1	0	0	0	0	1	0	0	0	13846	43	2	3	76	3	RWDD2A	6	83904244	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	27913878	83904244	87210823	14	45487											
POU3F2	5454	broad.mit.edu	37	chr6	99282949	99282951	+	In_Frame_Del	DEL	ACG	ACG	-																															gtggatcaccgcgctgtcccAcggcggcggcggcgggggcg																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:99282949_99282951delACG	ENST00000328345.5	+	1	370_372	c.200_202delACG	c.(199-204)cacggc>cgc	p.67_68HG>R		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	67					positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		GCGCTGTCCCAcggcggcggcgg	0.793													-	99282951	ACG	-	99282949	7	5	496	1	0	1	0	1	0	0	0	0	12352	159	6	0	202	0	POU3F2	6	99282949	In_Frame_Del	DEL	ACG	TCGA-FG-A4MY-01A-11D-A26M-08	15378705	99282949	71832118	15	45488											
PLEKHG1	57480	broad.mit.edu	37	chr6	151055100	151055100	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcagtggagagtggacTcaaacggggcacccaagacg	12	3	16	10	3	1	2	1	0	0	2	1	5	1	3	1	4	2	2	1	4	2	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr6:151055100T>C	ENST00000367328.1	+	3	595	c.283T>C	c.(283-285)Tca>Cca	p.S95P	PLEKHG1_ENST00000358517.2_Missense_Mutation_p.S95P	NM_001029884.1	NP_001025055.1	Q9ULL1	PKHG1_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 1	95					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(19)|ovary(5)|prostate(4)|stomach(1)|urinary_tract(3)	53			BRCA - Breast invasive adenocarcinoma(37;0.0923)	OV - Ovarian serous cystadenocarcinoma(155;6.69e-13)		GAGAGTGGACTCAAACGGGGC	0.587													C	151055100	T	C	151055100	3	2	496	1	0	0	0	0	1	0	0	0	12145	1551	54	3	285	3	PLEKHG1	6	151055100	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	51772151	151055100	20059967	16	45489											
PMS2	5395	broad.mit.edu	37	chr7	6017340	6017340	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggggtccgaaggtccagTttttactagttggcaaggaa	9	11	13	8	1	0	0	0	0	0	0	2	2	2	1	3	5	1	3	3	5	5	5	rs146118239	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:6017340T>C	ENST00000265849.7	-	14	2429	c.2324A>G	c.(2323-2325)aAc>aGc	p.N775S	PMS2_ENST00000406569.3_Missense_Mutation_p.T562A|PMS2_ENST00000441476.2_Missense_Mutation_p.N669S|PMS2_ENST00000382321.4_Missense_Mutation_p.N374S	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	775			N -> S (in dbSNP:rs17420802).		mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		GAAGGTCCAGTTTTTACTAGT	0.478			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	6017340	T	C	6017340	3	2	496	1	0	0	0	0	1	0	0	0	12220	1725	60	3	272	3	PMS2	7	6017340	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		6017340	153121323	17	45490											
ABCA13	154664	broad.mit.edu	37	chr7	48312200	48312200	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgaattattgaatattcaGagtagaggctcttcgttgac	12	15	9	5	1	2	5	1	3	1	2	3	5	2	5	0	1	0	3	0	1	6	8			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr7:48312200G>C	ENST00000435803.1	+	17	2961	c.2937G>C	c.(2935-2937)caG>caC	p.Q979H		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	979					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGAATATTCAGAGTAGAGGCT	0.308													C	48312200	G	C	48312200	3	2	496	1	0	0	0	0	1	0	0	0	31	933	33	4	2832	4	ABCA13	7	48312200	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	42294860	48312200	110826463	18	45491											
PAPPA	5069	broad.mit.edu	37	chr9	119144692	119144692	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcccttcatgggagacaatTattgtgatgccatcaacaac	13	10	8	10	0	2	2	2	1	0	1	2	3	2	2	2	1	4	0	2	1	4	3			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:119144692T>A	ENST00000328252.3	+	21	5065	c.4696T>A	c.(4696-4698)Tat>Aat	p.Y1566N	PAPPA_ENST00000483254.1_3'UTR|PAPPA_ENST00000534838.1_Missense_Mutation_p.Y604N	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1566					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						GGGAGACAATTATTGTGATGC	0.527													A	119144692	T	A	119144692	3	1	496	1	0	0	0	0	1	0	0	0	11508	1754	61	5	4778	5	PAPPA	9	119144692	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08		119144692	22068739	19	45492											
VAV2	7410	broad.mit.edu	37	chr9	136641200	136641200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcggccggctgatgggCggctggtggcagagcacaag	7	5	20	9	3	0	2	0	1	0	1	0	3	0	2	1	7	1	4	1	7	1	0	rs150295787		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr9:136641200C>T	ENST00000371851.1	-	22	2263	c.1938G>A	c.(1936-1938)ccG>ccA	p.P646P	VAV2_ENST00000371850.3_Silent_p.P656P|VAV2_ENST00000406606.3_Silent_p.P646P			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	656	SH3 1.				angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		GGCTGATGGGCGGCTGGTGGC	0.617													T	136641200	C	T	136641200	2	4	496	1	0	0	0	0	0	0	0	1	17234	755	27	1		1	VAV2	9	136641200	Silent	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	17496508	136641200	4572231	20	45493											
BMI1	648	broad.mit.edu	37	chr10	22618234	22618234	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggactgacaaatgctggagaActggaaagtgactctgggag	13	7	15	6	0	1	3	0	2	1	1	1	7	1	6	0	4	2	1	0	4	3	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr10:22618234A>G	ENST00000376663.3	+	10	1249	c.744A>G	c.(742-744)gaA>gaG	p.E248E	COMMD3-BMI1_ENST00000602390.1_Silent_p.E391E	NM_005180.8	NP_005171.4			BMI1 polycomb ring finger oncogene											breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)|skin(2)|urinary_tract(1)	12						ATGCTGGAGAACTGGAAAGTG	0.483													G	22618234	A	G	22618234	2	3	496	1	0	0	0	0	0	0	0	1	1461	40	2	3		3	BMI1	10	22618234	Silent	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		22618234	112916513	21	45494											
PTPRJ	5795	broad.mit.edu	37	chr11	48152190	48152190	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtggcttgttccctggaAccaagtattgctttgaaata	9	15	10	7	0	0	1	0	1	0	0	1	2	1	2	2	3	2	4	2	3	5	7			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr11:48152190A>G	ENST00000418331.2	+	8	1889	c.1537A>G	c.(1537-1539)Acc>Gcc	p.T513A	PTPRJ_ENST00000440289.2_Missense_Mutation_p.T513A	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	513	Fibronectin type-III 5.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GTTCCCTGGAACCAAGTATTG	0.428													G	48152190	A	G	48152190	3	3	496	1	0	0	0	0	1	0	0	0	12892	43	2	3	1567	3	PTPRJ	11	48152190	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		48152190	86854326	22	45495											
A2M	2	broad.mit.edu	37	chr12	9232315	9232315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagataatccagtacatagAtgttaggagcaaagaggacc	16	9	10	6	0	0	3	0	0	0	3	1	5	1	5	2	2	2	3	2	2	6	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:9232315A>C	ENST00000318602.7	-	24	3258	c.2951T>G	c.(2950-2952)aTc>aGc	p.I984S	A2M_ENST00000542567.1_5'UTR	NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	984					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	CAGTACATAGATGTTAGGAGC	0.433													C	9232315	A	C	9232315	3	2	496	1	0	0	0	0	1	0	0	0	4	333	12	5	1525	5	A2M	12	9232315	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08		9232315	124619580	23	45496											
GPR133	283383	broad.mit.edu	37	chr12	131466566	131466566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgtggagctgtatacgCgggacaattccatgacatgg	9	10	13	9	2	1	1	0	1	1	0	2	3	2	3	1	3	2	3	1	3	3	3	rs144030317		TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr12:131466566C>T	ENST00000261654.5	+	5	1007	c.448C>T	c.(448-450)Cgg>Tgg	p.R150W	GPR133_ENST00000535015.1_Missense_Mutation_p.R182W	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	150					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.R150W(1)		NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		GCTGTATACGCGGGACAATTC	0.587													T	131466566	C	T	131466566	3	4	496	1	0	0	0	0	1	0	0	0	6697	759	27	1	466	1	GPR133	12	131466566	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	122234251	131466566	2385329	24	45497											
UBFD1	56061	broad.mit.edu	37	chr16	23568991	23568991	+	Frame_Shift_Del	DEL	G	G	-																															gagagattaggggctgctgcGggggccaatctcagccagct																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr16:23568991delG	ENST00000219638.4	+	1	600	c.600delG	c.(598-600)gcgfs	p.A200fs	EARS2_ENST00000564501.1_5'UTR|UBFD1_ENST00000395878.3_5'UTR			O14562	UBFD1_HUMAN	ubiquitin family domain containing 1	0										endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7				GBM - Glioblastoma multiforme(48;0.0331)		GGGCTGCTGCGGGGGCCAATC	0.677													-	23568991	G	-	23568991	7	5	496	1	0	1	0	1	0	0	0	0	16986	1131	39	0		0	UBFD1	16	23568991	Frame_Shift_Del	DEL	G	TCGA-FG-A4MY-01A-11D-A26M-08		23568991	66785762	25	45498											
EIF4A1	1973	broad.mit.edu	37	chr17	7481686	7481686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaggtggacggtttggccGtaaaggtgtggctattaaca	9	11	15	6	3	0	0	0	0	0	0	1	2	0	1	1	6	1	3	1	6	4	4			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7481686G>A	ENST00000293831.8	+	11	1119	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	EIF4A1_ENST00000577269.1_Silent_p.P347P|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000582746.1_Silent_p.P341P	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	368	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						CGGTTTGGCCGTAAAGGTGTG	0.507													A	7481686	G	A	7481686	3	1	496	1	0	0	0	0	1	0	0	0	5065	1145	40	1	1145	1	EIF4A1	17	7481686	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		7481686	73713524	26	45499											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:7578403C>T	ENST00000420246.2	-	5	659	c.527G>A	c.(526-528)tGc>tAc	p.C176Y	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Missense_Mutation_p.C176Y|TP53_ENST00000455263.2_Missense_Mutation_p.C176Y|TP53_ENST00000413465.2_Missense_Mutation_p.C176Y|TP53_ENST00000445888.2_Missense_Mutation_p.C176Y|TP53_ENST00000359597.4_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	0.652		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)			T	7578403	C	T	7578403	3	4	496	1	0	0	0	0	1	0	0	0	16482	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	96717	7578403	73616807	27	45500											
KIF2B	84643	broad.mit.edu	37	chr17	51901156	51901156	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtccaagcaaaaggtggaCctcactcgctacctgcagaa	13	6	10	12	1	1	1	1	0	0	1	3	3	2	2	3	2	3	3	3	2	5	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:51901156C>A	ENST00000268919.4	+	1	918	c.762C>A	c.(760-762)gaC>gaA	p.D254E		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	254	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAAAGGTGGACCTCACTCGCT	0.547													A	51901156	C	A	51901156	3	1	496	1	0	0	0	0	1	0	0	0	8356	506	18	4	764	4	KIF2B	17	51901156	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	44322753	51901156	29294054	28	45501											
TMEM104	54868	broad.mit.edu	37	chr17	72791232	72791232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgctgctgccgtgcccttctCcctcatgcaggtgacctggt	3	12	11	15	1	2	1	1	1	1	0	3	1	2	1	4	2	5	3	4	2	0	1			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr17:72791232C>G	ENST00000335464.5	+	7	671	c.509C>G	c.(508-510)tCc>tGc	p.S170C	TMEM104_ENST00000582773.1_Missense_Mutation_p.S170C|TMEM104_ENST00000417024.2_Missense_Mutation_p.S183C|TMEM104_ENST00000582330.1_Missense_Mutation_p.S170C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	170						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTGCCCTTCTCCCTCATGCAG	0.567													G	72791232	C	G	72791232	3	3	496	1	0	0	0	0	1	0	0	0	16118	855	30	4	531	4	TMEM104	17	72791232	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	20890076	72791232	8403978	29	45502											
PHLPP1	23239	broad.mit.edu	37	chr18	60646563	60646565	+	In_Frame_Del	DEL	CAG	CAG	-																															tgaagcatcaccaggagcaaCagcagcagcagcagccgcca																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr18:60646563_60646565delCAG	ENST00000400316.4	+	17	5298_5300	c.3517_3519delCAG	c.(3517-3519)cagdel	p.Q1177del	PHLPP1_ENST00000262719.5_In_Frame_Del_p.Q1689del	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1689	PP2C-like.				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						ccaggagcaacagcagcagcagc	0.586													-	60646565	CAG	-	60646563	7	5	496	1	0	1	0	1	0	0	0	0	11931	479	17	0	5119	0	PHLPP1	18	60646563	In_Frame_Del	DEL	CAG	TCGA-FG-A4MY-01A-11D-A26M-08		60646563	17430685	30	45503											
BAGE2	85319	broad.mit.edu	37	chr21	11098910	11098910	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggaacagagcagctcagcGggagataccagagaccctaa	14	3	13	11	2	1	3	1	0	0	3	1	6	1	4	2	2	5	2	2	2	3	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr21:11098910G>A	ENST00000470054.1	-	0	15									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gcagctcagcgggagatacca	0.587													A	11098910	G	A	11098910	1	1	496	0	1	0	0	0	0	0	0	0	1297	1131	39	1		1	BAGE2	21	11098910	RNA	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		11098910	37030985	31	45504											
TRIOBP	11078	broad.mit.edu	37	chr22	38120527	38120527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaacatcctgtgcccgacGggacgatcccagagcctcct	9	6	10	16	3	0	2	0	0	0	2	3	5	3	3	5	1	3	0	5	1	1	0	rs148083430	by1000genomes	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chr22:38120527G>A	ENST00000406386.3	+	7	2219	c.1964G>A	c.(1963-1965)cGg>cAg	p.R655Q		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	655					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					TGTGCCCGACGGGACGATCCC	0.587													A	38120527	G	A	38120527	3	1	496	1	0	0	0	0	1	0	0	0	16654	1116	39	1	1982	1	TRIOBP	22	38120527	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08		38120527	13184039	32	45505											
DMD	1756	broad.mit.edu	37	chrX	32456488	32456488	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgggttatcctctgaatgtCgcatcaaattttcaagtgac	10	15	8	8	1	3	2	2	2	1	0	5	2	4	2	1	1	0	2	1	1	4	4			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:32456488C>T	ENST00000357033.4	-	29	4147	c.3941G>A	c.(3940-3942)cGa>cAa	p.R1314Q	DMD_ENST00000378677.2_Missense_Mutation_p.R1310Q	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1314					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTCTGAATGTCGCATCAAATT	0.363													T	32456488	C	T	32456488	3	4	496	1	0	0	0	0	1	0	0	0	4619	884	31	1	7563	1	DMD	23	32456488	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08		32456488	122814072	33	45506											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													TAT	49208296	-	TAT	49208295	7	5	496	1	0	1	1	0	0	0	0	0	6246	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-FG-A4MY-01A-11D-A26M-08	16751807	49208295	106062265	34	45507											
MED12	9968	broad.mit.edu	37	chrX	70341257	70341257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccctggagaggatgaattGcttaaactgctgctgcctct	8	11	11	11	1	1	2	0	1	1	1	1	4	1	3	2	2	5	3	2	2	3	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:70341257G>T	ENST00000333646.6	+	6	1015	c.816G>T	c.(814-816)ttG>ttT	p.L272F	MED12_ENST00000374080.3_Missense_Mutation_p.L272F|MED12_ENST00000374102.1_Missense_Mutation_p.L272F	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	272					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					AGGATGAATTGCTTAAACTGC	0.498			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						T	70341257	G	T	70341257	3	4	496	1	0	0	0	0	1	0	0	0	9503	1310	46	4	838	4	MED12	23	70341257	Missense_Mutation	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	21132962	70341257	84929303	35	45508											
ATRX	546	broad.mit.edu	37	chrX	76874425	76874425	+	Frame_Shift_Del	DEL	T	T	-																															tggatccaagtaaattttccTtgataaaattaaccatacaa																										TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:76874425delT	ENST00000373344.5	-	21	5511	c.5297delA	c.(5296-5298)aagfs	p.K1766fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1728fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1766	Helicase ATP-binding.				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)	TAAATTTTCCTTGATAAAATT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76874425	T	-	76874425	7	5	496	1	0	1	0	1	0	0	0	0	1213	1609	56	0	2241	0	ATRX	23	76874425	Frame_Shift_Del	DEL	T	TCGA-FG-A4MY-01A-11D-A26M-08	6533168	76874425	78396135	36	45509											
SYTL4	94121	broad.mit.edu	37	chrX	99931059	99931059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgcttggccattgaggaaCggagctgcagagtcccttct	7	11	12	11	1	2	2	0	1	2	1	3	4	3	4	2	3	4	3	2	3	1	3	rs139707843	byFrequency	TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:99931059C>T	ENST00000455616.1	-	18	2328	c.1982G>A	c.(1981-1983)cGt>cAt	p.R661H	SYTL4_ENST00000263033.5_Missense_Mutation_p.R661H|SYTL4_ENST00000491602.1_5'UTR|SYTL4_ENST00000276141.6_Missense_Mutation_p.R661H|SYTL4_ENST00000372989.1_Missense_Mutation_p.R661H|SYTL4_ENST00000454200.2_Missense_Mutation_p.R663H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	661					exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CATTGAGGAACGGAGCTGCAG	0.567													T	99931059	C	T	99931059	3	4	496	1	0	0	0	0	1	0	0	0	15582	536	19	1	37	1	SYTL4	23	99931059	Missense_Mutation	SNP	C	TCGA-FG-A4MY-01A-11D-A26M-08	23056634	99931059	55339501	37	45510											
PAK3	5063	broad.mit.edu	37	chrX	110385328	110385328	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacattttgcctttagccaaTaagaagaaggagaaagagcg	17	8	10	6	1	0	4	0	0	0	4	0	5	0	4	2	1	4	0	2	1	7	5			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:110385328T>C	ENST00000372007.5	+	6	571	c.180T>C	c.(178-180)aaT>aaC	p.N60N	PAK3_ENST00000360648.4_Silent_p.N60N|PAK3_ENST00000372010.1_Silent_p.N60N|PAK3_ENST00000446737.1_Silent_p.N60N|PAK3_ENST00000518291.1_Silent_p.N60N|PAK3_ENST00000417227.1_Silent_p.N60N|PAK3_ENST00000262836.4_Silent_p.N60N|PAK3_ENST00000425146.1_Silent_p.N60N|PAK3_ENST00000519681.1_Silent_p.N60N	NM_002578.3	NP_002569.1	O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3						multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						CTTTAGCCAATAAGAAGAAGG	0.388										TSP Lung(19;0.15)			C	110385328	T	C	110385328	2	2	496	1	0	0	0	0	0	0	0	1	11478	1403	49	3		3	PAK3	23	110385328	Silent	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	10454269	110385328	44885232	38	45511											
MBNL3	55796	broad.mit.edu	37	chrX	131520820	131520820	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctctttggtatcagttgcAgtgtaccaggctgcagggcc	7	12	12	10	0	2	0	1	0	1	0	3	0	2	0	2	3	3	6	2	3	2	4			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:131520820A>G	ENST00000538204.1	-	5	706	c.641T>C	c.(640-642)cTg>cCg	p.L214P	RAP2C-AS1_ENST00000421483.2_RNA|MBNL3_ENST00000370844.1_Missense_Mutation_p.L168P|MBNL3_ENST00000370849.3_Missense_Mutation_p.L214P|MBNL3_ENST00000370857.3_Missense_Mutation_p.L264P|MBNL3_ENST00000370839.3_Intron|MBNL3_ENST00000394311.2_Missense_Mutation_p.L168P|MBNL3_ENST00000370853.3_Missense_Mutation_p.L264P|RAP2C-AS1_ENST00000441399.2_RNA	NM_001170702.1	NP_001164173.1	Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	264					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					TATCAGTTGCAGTGTACCAGG	0.488													G	131520820	A	G	131520820	3	3	496	1	0	0	0	0	1	0	0	0	9430	188	7	3	350	3	MBNL3	23	131520820	Missense_Mutation	SNP	A	TCGA-FG-A4MY-01A-11D-A26M-08	21135492	131520820	23749740	39	45512											
MAGEC2	51438	broad.mit.edu	37	chrX	141291734	141291734	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgaggtcggggagtcgtTgtcaacgttgcggaatggaa	10	9	16	6	4	1	1	1	1	0	0	3	4	1	4	0	5	3	2	0	5	4	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:141291734T>C	ENST00000247452.3	-	3	387	c.40A>G	c.(40-42)Aac>Gac	p.N14D		NM_016249.3	NP_057333.1	Q9UBF1	MAGC2_HUMAN	melanoma antigen family C, 2	14						cytoplasm|nucleus				NS(2)|breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)	47	Acute lymphoblastic leukemia(192;6.56e-05)					GGGGAGTCGTTGTCAACGTTG	0.522										HNSCC(46;0.14)			C	141291734	T	C	141291734	3	2	496	1	0	0	0	0	1	0	0	0	9256	1812	63	3	1085	3	MAGEC2	23	141291734	Missense_Mutation	SNP	T	TCGA-FG-A4MY-01A-11D-A26M-08	9770914	141291734	13978826	40	45513											
TMEM187	8269	broad.mit.edu	37	chrX	153247936	153247936	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcggctggcggccctggctGttcctctctcttgagtgcgt	1	12	14	14	4	2	1	0	1	2	0	4	1	3	1	2	4	1	3	2	4	0	2			TCGA-FG-A4MY-01A-11D-A26M-08	TCGA-FG-A4MY-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f6e09da5-6fae-4bec-a234-735728c4b4ad	494f3477-0516-47ea-beaf-572109ff74f8	g.chrX:153247936G>C	ENST00000369982.4	+	2	1170	c.423G>C	c.(421-423)ctG>ctC	p.L141L		NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	141						integral to membrane|transport vesicle				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCCTGGCTGTTCCTCTCTC	0.677													C	153247936	G	C	153247936	2	2	496	1	0	0	0	0	0	0	0	1	16209	1364	48	4		4	TMEM187	23	153247936	Silent	SNP	G	TCGA-FG-A4MY-01A-11D-A26M-08	11956202	153247936	2022624	41	45514											
SH2D1B	117157	broad.mit.edu	37	chr1	162381781	162381781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtcttgcttggtcagaCgtccatggtagtaaggcaga	10	10	12	9	1	2	2	1	0	1	2	3	2	3	2	1	3	1	4	1	3	2	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:162381781C>T	ENST00000367929.2	-	1	135	c.26G>A	c.(25-27)cGt>cAt	p.R9H	SH2D1B_ENST00000359567.3_Missense_Mutation_p.R9H|SH2D1B_ENST00000493550.1_5'UTR	NM_053282.4	NP_444512.2	O14796	SH21B_HUMAN	SH2 domain containing 1B	9	SH2.									kidney(1)|large_intestine(1)|lung(4)|pancreas(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			CTTGGTCAGACGTCCATGGTA	0.532													T	162381781	C	T	162381781	3	4	497	1	0	0	0	0	1	0	0	0	14324	536	19	1	388	1	SH2D1B	1	162381781	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		162381781	86868840	1	45515											
OR2M3	127062	broad.mit.edu	37	chr1	248366698	248366698	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatacatcactgcttggctCtgagtgctttcttttggctg	5	17	9	10	0	3	1	1	1	2	0	3	1	3	1	0	2	3	4	0	2	2	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr1:248366698C>G	ENST00000456743.1	+	1	367	c.329C>G	c.(328-330)tCt>tGt	p.S110C		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CTGCTTGGCTCTGAGTGCTTT	0.458													G	248366698	C	G	248366698	3	3	497	1	0	0	0	0	1	0	0	0	11087	913	32	4	331	4	OR2M3	1	248366698	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	85984917	248366698	883923	2	45516											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	497	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		209113112	34086261	3	45517											
SEC61A1	29927	broad.mit.edu	37	chr3	127786281	127786281	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggacacgtcttctgggggCccagcacgtgcttatccagt	7	9	12	13	2	2	0	0	0	2	0	3	1	3	1	2	3	2	2	2	3	1	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:127786281C>T	ENST00000243253.3	+	10	1177	c.993C>T	c.(991-993)ggC>ggT	p.G331G	SEC61A1_ENST00000424880.2_Silent_p.G211G|SEC61A1_ENST00000483956.1_3'UTR|SEC61A1_ENST00000464451.1_Silent_p.G337G|RUVBL1_ENST00000464873.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	331					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						CTTCTGGGGGCCCAGCACGTG	0.483													T	127786281	C	T	127786281	2	4	497	1	0	0	0	0	0	0	0	1	14093	726	26	2		2	SEC61A1	3	127786281	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		127786281	70236149	4	45518											
PIK3R4	30849	broad.mit.edu	37	chr3	130463923	130463923	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcacaacgaccaggcctTctcggtgcttggctcgagca	7	9	10	15	3	2	0	1	0	1	0	4	2	2	0	3	3	3	3	3	3	1	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr3:130463923T>C	ENST00000356763.3	-	2	697	c.140A>G	c.(139-141)gAa>gGa	p.E47G		NM_014602.2	NP_055417.1	Q99570	PI3R4_HUMAN	phosphoinositide-3-kinase, regulatory subunit 4	47	Protein kinase.				fibroblast growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway	cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(6)|large_intestine(16)|lung(28)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	77						GACCAGGCCTTCTCGGTGCTT	0.408													C	130463923	T	C	130463923	3	2	497	1	0	0	0	0	1	0	0	0	11998	1783	62	3	4012	3	PIK3R4	3	130463923	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2677642	130463923	67558507	5	45519											
CPZ	8532	broad.mit.edu	37	chr4	8603122	8603122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgggaggtctgccagcccGccttcgacgccattgacatg	6	8	13	14	4	1	1	0	1	1	0	2	3	1	2	4	2	3	0	4	2	0	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:8603122G>A	ENST00000360986.4	+	3	568	c.394G>A	c.(394-396)Gcc>Acc	p.A132T	CPZ_ENST00000315782.6_Missense_Mutation_p.A121T|CPZ_ENST00000382480.2_5'UTR|CPZ_ENST00000506287.1_3'UTR	NM_001014447.2	NP_001014447	Q66K79	CBPZ_HUMAN	carboxypeptidase Z	132	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTGCCAGCCCGCCTTCGACGC	0.677													A	8603122	G	A	8603122	3	1	497	1	0	0	0	0	1	0	0	0	3870	1087	38	1	404	1	CPZ	4	8603122	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		8603122	182551154	6	45520											
TMEM155	132332	broad.mit.edu	37	chr4	122681459	122681459	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacatttctcagacaatcTtgcagatagcagtagccaat	14	11	6	10	0	2	2	1	0	2	2	3	2	2	2	1	0	4	3	1	0	5	5			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr4:122681459T>A	ENST00000337677.5	-	6	941	c.383A>T	c.(382-384)aAg>aTg	p.K128M	TMEM155_ENST00000394396.1_Missense_Mutation_p.K128M|TMEM155_ENST00000394394.1_Missense_Mutation_p.K128M	NM_152399.2	NP_689612.2	Q4W5P6	TM155_HUMAN	transmembrane protein 155	128						extracellular region				breast(1)|lung(5)	6						tcagacaatcttgcagatagc	0.403													A	122681459	T	A	122681459	3	1	497	1	0	0	0	0	1	0	0	0	16172	1609	56	5	13	5	TMEM155	4	122681459	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	114078337	122681459	68472817	7	45521											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	497	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08		31939829	139175238	8	45522											
HOXA7	3204	broad.mit.edu	37	chr7	27196035	27196035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgaggcgaaggcgccggCgcccgccccgtagccgcttc	4	4	16	17	8	0	0	0	0	0	0	2	2	0	0	5	4	1	2	5	4	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr7:27196035C>T	ENST00000242159.3	-	1	263	c.130G>A	c.(130-132)Gcc>Acc	p.A44T		NM_006896.3	NP_008827.2	P31268	HXA7_HUMAN	homeobox A7	44					angiogenesis|negative regulation of cell-matrix adhesion|negative regulation of keratinocyte differentiation|negative regulation of leukocyte migration|negative regulation of monocyte differentiation|negative regulation of transcription from RNA polymerase II promoter		sequence-specific DNA binding|transcription factor binding			endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|urinary_tract(1)	16						AAGGCGCCGGCGCCCGCCCCG	0.607													T	27196035	C	T	27196035	3	4	497	1	0	0	0	0	1	0	0	0	7352	768	27	1	570	1	HOXA7	7	27196035	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		27196035	131942628	9	45523											
LETM2	137994	broad.mit.edu	37	chr8	38262000	38262000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagatgtgaagcccaagccGattgagataccactcagtgg	13	8	11	9	1	1	3	1	2	0	2	1	5	1	3	3	1	3	0	3	1	4	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:38262000G>A	ENST00000379957.4	+	8	1321	c.1194G>A	c.(1192-1194)ccG>ccA	p.P398P	LETM2_ENST00000297720.5_Silent_p.P303P|LETM2_ENST00000528827.1_3'UTR|LETM2_ENST00000523983.2_Silent_p.P351P|LETM2_ENST00000527710.1_Silent_p.P184P|LETM2_ENST00000524874.1_Silent_p.P350P	NM_001199659.1	NP_001186588.1	Q2VYF4	LETM2_HUMAN	leucine zipper-EF-hand containing transmembrane protein 2	398						integral to membrane|mitochondrial inner membrane				NS(1)|large_intestine(1)|lung(3)|prostate(2)	7	all_cancers(2;6.77e-47)|all_epithelial(2;1.01e-50)|all_lung(3;1.25e-23)|Lung NSC(2;2.76e-23)|Colorectal(12;0.000442)|Esophageal squamous(3;0.00202)	all_lung(54;0.0657)|Hepatocellular(245;0.152)|Lung NSC(58;0.175)	Epithelial(3;1.17e-42)|all cancers(3;5.44e-38)|BRCA - Breast invasive adenocarcinoma(5;5.44e-27)|LUSC - Lung squamous cell carcinoma(2;7.12e-25)|Lung(2;4.49e-22)|COAD - Colon adenocarcinoma(9;0.114)			AGCCCAAGCCGATTGAGATAC	0.557													A	38262000	G	A	38262000	2	1	497	1	0	0	0	0	0	0	0	1	8794	1045	37	1		1	LETM2	8	38262000	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		38262000	108102022	10	45524											
XKR4	114786	broad.mit.edu	37	chr8	56436610	56436610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccacggattgaagaaTcagtcattaaaattgacttg	14	10	8	9	1	2	3	2	2	0	1	2	4	2	4	2	1	0	0	2	1	4	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr8:56436610T>C	ENST00000327381.6	+	3	1877	c.1777T>C	c.(1777-1779)Tca>Cca	p.S593P		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			GATTGAAGAATCAGTCATTAA	0.488													C	56436610	T	C	56436610	3	2	497	1	0	0	0	0	1	0	0	0	17535	1435	50	3	1787	3	XKR4	8	56436610	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	18174610	56436610	89927412	11	45525											
FAM154A	158297	broad.mit.edu	37	chr9	18928550	18928550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttagggcatgtgtaatgggCctgcactgttgtcagaagat	9	12	13	7	0	1	2	1	0	0	2	1	2	1	2	1	2	1	4	1	2	3	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr9:18928550C>T	ENST00000380534.4	-	4	1204	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	FAM154A_ENST00000542071.1_Missense_Mutation_p.A117T|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	309										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		GTGTAATGGGCCTGCACTGTT	0.547													T	18928550	C	T	18928550	3	4	497	1	0	0	0	0	1	0	0	0	5508	739	26	2	503	2	FAM154A	9	18928550	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		18928550	122284881	12	45526											
TLL2	7093	broad.mit.edu	37	chr10	98129891	98129891	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtaggcttccatgtagtcGtagccgcagtcggcctcctc	5	11	11	14	4	0	0	0	0	0	0	6	0	2	0	4	2	1	5	4	2	3	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr10:98129891G>A	ENST00000357947.3	-	20	3069	c.2844C>T	c.(2842-2844)taC>taT	p.Y948Y		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	948	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		CCATGTAGTCGTAGCCGCAGT	0.667													A	98129891	G	A	98129891	2	1	497	1	0	0	0	0	0	0	0	1	16046	1140	40	1		1	TLL2	10	98129891	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		98129891	37404856	13	45527											
OR5I1	10798	broad.mit.edu	37	chr11	55703053	55703053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgtagaacactgagataAttttatcagtgtttggagaa	13	14	11	3	0	1	3	1	1	0	3	1	5	1	3	0	2	1	2	0	2	5	5			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:55703053A>G	ENST00000301532.3	-	1	823	c.824T>C	c.(823-825)aTt>aCt	p.I275T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	275					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						CACTGAGATAATTTTATCAGT	0.408													G	55703053	A	G	55703053	3	3	497	1	0	0	0	0	1	0	0	0	11240	101	4	3	123	3	OR5I1	11	55703053	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08		55703053	79303463	14	45528											
LRRC55	219527	broad.mit.edu	37	chr11	56949447	56949447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagactctcgattccatggAcacagtcctcatgggctccc	9	9	8	15	1	2	1	1	0	1	1	6	3	5	2	3	2	0	1	3	2	0	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:56949447A>G	ENST00000497933.1	+	1	227	c.80A>G	c.(79-81)gAc>gGc	p.D27G		NM_001005210.2	NP_001005210.1	Q6ZSA7	LRC55_HUMAN	leucine rich repeat containing 55	0						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(2)|skin(2)	25						GATTCCATGGACACAGTCCTC	0.607													G	56949447	A	G	56949447	3	3	497	1	0	0	0	0	1	0	0	0	9081	275	10	3	82	3	LRRC55	11	56949447	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	1246394	56949447	78057069	15	45529											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000334888.5_Splice_Site_p.G46G|TMEM216_ENST00000398979.3_5'UTR			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													G	61161357	T	G	61161357	5	3	497	1	0	0	0	0	0	0	1	0	16239	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	4211910	61161357	73845159	16	45530											
CASP1	834	broad.mit.edu	37	chr11	104897057	104897057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcatctgcgctctaccAtctggctgctcaaatgaaaa	10	10	10	11	1	4	1	1	1	3	0	4	1	4	1	1	2	3	4	1	2	4	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr11:104897057A>C	ENST00000533400.1	-	9	1178	c.1143T>G	c.(1141-1143)gaT>gaG	p.D381E	CASP1_ENST00000527979.1_Missense_Mutation_p.D344E|CASP1_ENST00000526568.1_Missense_Mutation_p.D288E|CASP1_ENST00000525825.1_Missense_Mutation_p.D360E|CASP1_ENST00000598974.1_Missense_Mutation_p.D381E|CASP1_ENST00000446369.1_Missense_Mutation_p.D240E|CASP1_ENST00000353247.5_Missense_Mutation_p.D65E|CASP1_ENST00000393136.4_Missense_Mutation_p.D360E|CASP1_ENST00000593315.1_Missense_Mutation_p.D360E|CASP1_ENST00000436863.3_Missense_Mutation_p.D381E|CASP1_ENST00000415981.2_Missense_Mutation_p.D65E|CASP1_ENST00000531166.1_Missense_Mutation_p.D65E|CASP1_ENST00000534497.1_Missense_Mutation_p.D240E|CASP1_ENST00000594519.1_Missense_Mutation_p.D240E	NM_001257118.1	NP_001244047.1	P29466	CASP1_HUMAN	caspase 1, apoptosis-related cysteine peptidase	381					cellular response to mechanical stimulus|cellular response to organic substance|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis|signal transduction	cytosol	caspase activator activity|cysteine-type endopeptidase activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000525)|Epithelial(105;0.0128)|all cancers(92;0.0482)	Minocycline(DB01017)|Penicillamine(DB00859)	GCGCTCTACCATCTGGCTGCT	0.393													C	104897057	A	C	104897057	3	2	497	1	0	0	0	0	1	0	0	0	2694	214	8	5	75	5	CASP1	11	104897057	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	43735700	104897057	30109459	17	45531											
CLEC12A	160364	broad.mit.edu	37	chr12	10131591	10131591	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctccctctcatgtatggCgtccagcagccttgtttctg	5	13	9	14	1	2	0	1	0	2	0	5	0	4	0	3	1	3	4	3	1	1	3	rs141455664	byFrequency	TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:10131591C>T	ENST00000304361.4	+	2	300	c.118C>T	c.(118-120)Cgt>Tgt	p.R40C	CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40C|CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50C|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						TCATGTATGGCGTCCAGCAGC	0.433													T	10131591	C	T	10131591	3	4	497	1	0	0	0	0	1	0	0	0	3528	768	27	1	124	1	CLEC12A	12	10131591	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		10131591	123720304	18	45532											
ASCL1	429	broad.mit.edu	37	chr12	103352171	103352172	+	In_Frame_Ins	INS	-	-	GCA																															gcagcggcagcgcagagcgcINSgcagcagcagcagcagcagc																								rs71438488		TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:103352171_103352172insGCA	ENST00000266744.3	+	1	708_709	c.149_150insGCA	c.(148-153)gcgcag>gcGCAgcag	p.62_63insQ		NM_004316.3	NP_004307.2	P50553	ASCL1_HUMAN	achaete-scute family bHLH transcription factor 1	62	Poly-Gln.			Q -> QQQ (in Ref. 1).	cerebral cortex GABAergic interneuron differentiation|negative regulation of apoptosis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|noradrenergic neuron fate commitment|Notch signaling pathway|positive regulation of neuron differentiation|positive regulation of transcription from RNA polymerase II promoter|response to retinoic acid|sympathetic nervous system development	nucleus	bHLH transcription factor binding|E-box binding|sequence-specific DNA binding transcription factor activity|transcription factor binding transcription factor activity			NS(3)|large_intestine(1)|lung(1)	5						gcgcagagcgcgcagcagcagc	0.757													GCA	103352172	-	GCA	103352171	7	5	497	1	0	1	1	0	0	0	0	0	1039	768	27	0	151	0	ASCL1	12	103352171	In_Frame_Ins	INS	-	TCGA-FG-A60J-01A-11D-A289-08	93220580	103352171	30499724	19	45533											
SRRM4	84530	broad.mit.edu	37	chr12	119592158	119592158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcgccggagagactcccCgagccacctggaggcccgga	10	2	14	15	4	0	1	0	0	0	1	1	6	1	4	6	4	2	0	6	4	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr12:119592158C>T	ENST00000267260.4	+	12	1890	c.1502C>T	c.(1501-1503)cCg>cTg	p.P501L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	501	Arg-rich.|Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						AGAGACTCCCCGAGCCACCTG	0.632													T	119592158	C	T	119592158	3	4	497	1	0	0	0	0	1	0	0	0	15267	652	23	1	1548	1	SRRM4	12	119592158	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	16239987	119592158	14259737	20	45534											
LATS2	26524	broad.mit.edu	37	chr13	21562142	21562142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgagtagctcttgatgcGtgactctctcttctcttcgt	4	16	10	11	3	4	2	0	2	4	0	7	3	4	2	0	1	2	2	0	1	1	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr13:21562142G>A	ENST00000382592.4	-	4	2182	c.1777C>T	c.(1777-1779)Cgc>Tgc	p.R593C	LATS2_ENST00000542899.1_Missense_Mutation_p.R593C	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	593					cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CTCTTGATGCGTGACTCTCTC	0.512													A	21562142	G	A	21562142	3	1	497	1	0	0	0	0	1	0	0	0	8706	1145	40	1	1509	1	LATS2	13	21562142	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		21562142	93607736	21	45535											
SYNE2	23224	broad.mit.edu	37	chr14	64683079	64683079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacctgttccccctgcgTccagcaccccttataaacca	8	10	4	19	1	0	0	0	0	0	0	3	0	3	0	8	0	3	2	8	0	3	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr14:64683079T>C	ENST00000357395.3	+	108	19746	c.8602T>C	c.(8602-8604)Tcc>Ccc	p.S2868P	SYNE2_ENST00000458046.2_Missense_Mutation_p.S140P|SYNE2_ENST00000555002.1_Missense_Mutation_p.S3140P|SYNE2_ENST00000441438.2_Missense_Mutation_p.S14P|SYNE2_ENST00000358025.3_Missense_Mutation_p.S6506P|SYNE2_ENST00000555022.1_Missense_Mutation_p.S361P|SYNE2_ENST00000554805.1_Missense_Mutation_p.S266P|SYNE2_ENST00000344113.4_Missense_Mutation_p.S6483P|SYNE2_ENST00000394768.2_Missense_Mutation_p.S2868P|SYNE2_ENST00000554584.1_Missense_Mutation_p.S6425P|ESR2_ENST00000542956.1_Intron			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6483					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		TCCCCCTGCGTCCAGCACCCC	0.498													C	64683079	T	C	64683079	3	2	497	1	0	0	0	0	1	0	0	0	15543	1667	58	3	19942	3	SYNE2	14	64683079	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		64683079	42666461	22	45536											
CHRNA5	1138	broad.mit.edu	37	chr15	78882881	78882881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagaggaaactgagagtgGtagtggaccaaaatcttcta	16	8	12	5	0	2	2	0	1	2	2	2	6	2	4	1	3	1	1	1	3	6	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr15:78882881G>A	ENST00000299565.5	+	5	1348	c.1148G>A	c.(1147-1149)gGt>gAt	p.G383D	CHRNA5_ENST00000559554.1_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	383					behavioral response to nicotine	cell junction|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15						ACTGAGAGTGGTAGTGGACCA	0.438													A	78882881	G	A	78882881	3	1	497	1	0	0	0	0	1	0	0	0	3416	1261	44	2	1166	2	CHRNA5	15	78882881	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		78882881	23648511	23	45537											
ABR	29	broad.mit.edu	37	chr17	915191	915191	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctcctccacacactGccggacgatgtagggcacct	8	7	8	18	2	0	0	0	0	0	0	3	2	3	1	6	2	1	2	6	2	1	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:915191G>A	ENST00000544583.2	-	19	2457	c.1858C>T	c.(1858-1860)Cag>Tag	p.Q620*	ABR_ENST00000302538.5_Nonsense_Mutation_p.Q666*|ABR_ENST00000543210.2_Nonsense_Mutation_p.Q117*|ABR_ENST00000291107.2_Nonsense_Mutation_p.Q629*|ABR_ENST00000536794.2_Nonsense_Mutation_p.Q448*|ABR_ENST00000572441.1_Nonsense_Mutation_p.Q117*|ABR_ENST00000574437.1_Nonsense_Mutation_p.Q620*	NM_001159746.2	NP_001153218.1	Q12979	ABR_HUMAN	active BCR-related	666					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding|Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39				UCEC - Uterine corpus endometrioid carcinoma (25;0.0228)		TCCACACACTGCCGGACGATG	0.652													A	915191	G	A	915191	4	1	497	1	0	0	0	0	0	1	0	0	99	1328	46	2	603	2	ABR	17	915191	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08		915191	80280019	24	45538											
ZZEF1	23140	broad.mit.edu	37	chr17	4046085	4046085	+	Frame_Shift_Del	DEL	G	G	-																															ggagccgcgacgcccgggccGggggtcgtgcccgagaccgc																										TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4046085delG	ENST00000381638.2	-	1	229	c.105delC	c.(103-105)cccfs	p.P35fs	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	35							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CGCCCGGGCCGGGGGTCGTGC	0.751													-	4046085	G	-	4046085	7	5	497	1	0	1	0	1	0	0	0	0	18352	1103	39	0	9000	0	ZZEF1	17	4046085	Frame_Shift_Del	DEL	G	TCGA-FG-A60J-01A-11D-A289-08	3130894	4046085	77149125	25	45539											
ARRB2	409	broad.mit.edu	37	chr17	4619834	4619834	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccggtgcccaacccaccccgGccccccacccgcctgcagga	6	2	9	24	3	0	0	0	0	0	0	0	1	0	1	10	3	3	1	10	3	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:4619834G>C	ENST00000269260.2	+	5	521	c.288G>C	c.(286-288)cgG>cgC	p.R96R	ARRB2_ENST00000571206.1_5'UTR|ARRB2_ENST00000575877.1_Silent_p.R96R|ARRB2_ENST00000572457.1_5'UTR|ARRB2_ENST00000570718.1_3'UTR|ARRB2_ENST00000412477.3_Silent_p.R96R|ARRB2_ENST00000574954.1_5'UTR|ARRB2_ENST00000346341.2_Silent_p.R81R|ARRB2_ENST00000381488.6_Silent_p.R81R	NM_001257328.1|NM_001257330.1|NM_004313.3	NP_001244257.1|NP_001244259.1|NP_004304.1	P32121	ARRB2_HUMAN	arrestin, beta 2	96					cell chemotaxis|desensitization of G-protein coupled receptor protein signaling pathway by arrestin|G-protein coupled receptor internalization|negative regulation of natural killer cell mediated cytotoxicity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|platelet activation|positive regulation of ERK1 and ERK2 cascade|proteasomal ubiquitin-dependent protein catabolic process|protein transport|protein ubiquitination|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway	coated pit|cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	angiotensin receptor binding|ubiquitin protein ligase binding			large_intestine(1)|liver(2)|lung(3)|prostate(1)	7						ACCCACCCCGGCCCCCCACCC	0.672													C	4619834	G	C	4619834	2	2	497	1	0	0	0	0	0	0	0	1	986	1190	42	4		4	ARRB2	17	4619834	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	573749	4619834	76575376	26	45540											
TP53	7157	broad.mit.edu	37	chr17	7577157	7577157	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccgtcccagtagattaccacTactcaggataggaaaagaga	15	7	9	10	1	1	2	1	0	0	2	2	5	2	4	3	2	2	1	3	2	6	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577157T>G	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATA	0.512		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)			G	7577157	T	G	7577157	5	3	497	1	0	0	0	0	0	0	1	0	16482	1536	53	5	505	5	TP53	17	7577157	Splice_Site	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	2957323	7577157	73618053	27	45541											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	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 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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			C	7577574	T	C	7577574	3	2	497	1	0	0	0	0	1	0	0	0	16482	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	417	7577574	73617636	28	45542											
HS3ST3A1	9955	broad.mit.edu	37	chr17	13400056	13400056	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatggccgagatgcgcgCgggggcctcccgcgtgacga	6	4	18	13	7	0	2	0	1	0	1	1	5	1	3	3	4	1	0	3	4	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:13400056C>T	ENST00000284110.1	-	2	1476	c.679G>A	c.(679-681)Gcg>Acg	p.A227T	HS3ST3A1_ENST00000578576.1_Missense_Mutation_p.A25T	NM_006042.1	NP_006033.1	Q9Y663	HS3SA_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 3A1	227						Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 3 activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_lung(20;0.114)		UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GAGATGCGCGCGGGGGCCTCC	0.627													T	13400056	C	T	13400056	3	4	497	1	0	0	0	0	1	0	0	0	7420	768	27	1	545	1	HS3ST3A1	17	13400056	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	5822482	13400056	67795154	29	45543											
TRIM16	10626	broad.mit.edu	37	chr17	15532459	15532459	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccttgcggttctcctcctGcagccggagatacttgtgtg	5	12	12	12	2	1	1	0	0	1	1	3	3	2	1	4	2	4	2	4	2	1	4			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr17:15532459G>A	ENST00000455584.2	-	6	1208	c.1165C>T	c.(1165-1167)Cag>Tag	p.Q389*	TRIM16_ENST00000416464.2_Nonsense_Mutation_p.Q259*|TRIM16_ENST00000579219.1_Silent_p.C85C|TRIM16_ENST00000577886.1_Nonsense_Mutation_p.Q173*|TRIM16_ENST00000336708.7_Nonsense_Mutation_p.Q389*|TRIM16_ENST00000578237.1_Nonsense_Mutation_p.Q389*																							TTCTCCTCCTGCAGCCGGAGA	0.602													A	15532459	G	A	15532459	4	1	497	1	0	0	0	0	0	1	0	0	16592	1328	46	2	533	2	TRIM16	17	15532459	Nonsense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	2132403	15532459	65662751	30	45544											
SSTR3	6753	broad.mit.edu	37	chr22	37603530	37603530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagggccagtaggacagggCgttctgggcggccaggaagg	9	4	20	8	2	1	0	0	0	1	0	1	3	1	2	2	7	0	2	2	7	3	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:37603530C>T	ENST00000328544.3	-	2	846	c.313G>A	c.(313-315)Gcc>Acc	p.A105T	SSTR3_ENST00000402501.1_Missense_Mutation_p.A105T	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	105					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						TAGGACAGGGCGTTCTGGGCG	0.622													T	37603530	C	T	37603530	3	4	497	1	0	0	0	0	1	0	0	0	15295	768	27	1	947	1	SSTR3	22	37603530	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08		37603530	13701036	31	45545											
MPPED1	758	broad.mit.edu	37	chr22	43898541	43898541	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcttcctggactgggtcCccaagaagatgcagcgggtg	8	7	15	11	1	0	2	0	0	0	2	2	3	2	3	3	4	2	2	3	4	2	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chr22:43898541C>A	ENST00000417669.2	+	6	1210	c.766C>A	c.(766-768)Ccc>Acc	p.P256T	MPPED1_ENST00000538182.1_Missense_Mutation_p.P289T|MPPED1_ENST00000439548.1_Missense_Mutation_p.P98T|MPPED1_ENST00000414469.2_Missense_Mutation_p.P150T|MPPED1_ENST00000443721.1_Missense_Mutation_p.P256T|MPPED1_ENST00000542779.1_Missense_Mutation_p.P256T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				GGACTGGGTCCCCAAGAAGAT	0.632													A	43898541	C	A	43898541	3	1	497	1	0	0	0	0	1	0	0	0	9817	623	22	4	664	4	MPPED1	22	43898541	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	6295011	43898541	7406025	32	45546											
ZNF81	347344	broad.mit.edu	37	chrX	47774744	47774744	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttacccagaactcttcttaTagtcaccacgaaaatacaca	15	11	3	12	1	3	1	1	0	2	1	3	2	3	1	2	0	3	0	2	0	7	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:47774744T>C	ENST00000376954.1	+	6	1067	c.699T>C	c.(697-699)taT>taC	p.Y233Y	ZNF81_ENST00000338637.7_Silent_p.Y233Y			P51508	ZNF81_HUMAN	zinc finger protein 81	233						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|large_intestine(1)|lung(1)|skin(1)	4		all_lung(315;0.0973)				ACTCTTCTTATAGTCACCACG	0.363													C	47774744	T	C	47774744	2	2	497	1	0	0	0	0	0	0	0	1	18273	1413	49	3		3	ZNF81	23	47774744	Silent	SNP	T	TCGA-FG-A60J-01A-11D-A289-08		47774744	107495816	33	45547											
GRIPAP1	56850	broad.mit.edu	37	chrX	48831681	48831681	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctctcaggacgctgccCagcccgctgcggtctgtgtg	4	9	14	14	3	3	0	1	0	2	0	4	1	3	1	2	3	3	2	2	3	0	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:48831681C>G	ENST00000376441.1	-	25	2353	c.2319G>C	c.(2317-2319)ctG>ctC	p.L773L	GRIPAP1_ENST00000376444.3_Silent_p.L728L|GRIPAP1_ENST00000376425.3_Silent_p.L742L	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	773						early endosome				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GGACGCTGCCCAGCCCGCTGC	0.607													G	48831681	C	G	48831681	2	3	497	1	0	0	0	0	0	0	0	1	6844	581	21	4		4	GRIPAP1	23	48831681	Silent	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	1056937	48831681	106438879	34	45548											
AR	367	broad.mit.edu	37	chrX	66863188	66863188	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtggagatgaagcttctggGtgtcactatggagctctcac	8	12	13	8	0	3	2	2	1	2	1	4	4	3	3	0	3	2	2	0	3	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:66863188G>C	ENST00000374690.3	+	2	2231	c.1707G>C	c.(1705-1707)ggG>ggC	p.G569G	AR_ENST00000513847.1_3'UTR|AR_ENST00000396044.3_Silent_p.G569G|AR_ENST00000504326.1_Silent_p.G569G|AR_ENST00000396043.2_Silent_p.G37G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	568					cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	AAGCTTCTGGGTGTCACTATG	0.493									Androgen Insensitivity Syndrome				C	66863188	G	C	66863188	2	2	497	1	0	0	0	0	0	0	0	1	839	1248	44	4		4	AR	23	66863188	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	18031507	66863188	88407372	35	45549											
OGT	8473	broad.mit.edu	37	chrX	70776956	70776956	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctggcttccattcataagGtactactgtttattataata	12	17	5	7	0	2	0	1	0	1	0	3	0	3	0	1	2	2	3	1	2	7	10			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:70776956G>T	ENST00000373719.3	+	10	1537		c.e10+1		OGT_ENST00000373701.3_Splice_Site	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase						cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CATTCATAAGGTACTACTGTT	0.368													T	70776956	G	T	70776956	5	4	497	1	0	0	0	0	0	0	1	0	10923	1275	44	4	1359	4	OGT	23	70776956	Splice_Site	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	3913768	70776956	84493604	36	45550											
RGAG4	340526	broad.mit.edu	37	chrX	71350423	71350423	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaagggaagatgatatttCgaactccagggagcgggata	15	7	13	6	2	0	2	0	1	0	1	2	6	1	5	1	3	2	0	1	3	6	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:71350423C>T	ENST00000545866.1	-	1	1335	c.968G>A	c.(967-969)cGa>cAa	p.R323Q	RGAG4_ENST00000609883.1_Missense_Mutation_p.R323Q|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	323										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					GATGATATTTCGAACTCCAGG	0.493													T	71350423	C	T	71350423	3	4	497	1	0	0	0	0	1	0	0	0	13363	884	31	1	745	1	RGAG4	23	71350423	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	573467	71350423	83920137	37	45551											
CSTF2	1478	broad.mit.edu	37	chrX	100077401	100077401	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgaaaagaacaaagaagAgctgaagagtgagtacaaat	21	5	11	4	0	0	7	0	3	0	4	0	7	0	7	0	0	3	2	0	0	8	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100077401A>T	ENST00000415585.2	+	3	321	c.299A>T	c.(298-300)gAg>gTg	p.E100V	CSTF2_ENST00000372972.2_Missense_Mutation_p.E100V			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	100					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AACAAAGAAGAGCTGAAGAGT	0.418													T	100077401	A	T	100077401	3	4	497	1	0	0	0	0	1	0	0	0	4017	304	11	5	309	5	CSTF2	23	100077401	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	28726978	100077401	55193159	38	45552											
DRP2	1821	broad.mit.edu	37	chrX	100490939	100490939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaacgggtctgttggtGcctctggacccctggaacca	6	11	13	11	1	2	1	0	1	2	0	2	3	2	3	4	4	3	2	4	4	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:100490939G>A	ENST00000395209.3	+	4	735	c.208G>A	c.(208-210)Gcc>Acc	p.A70T	DRP2_ENST00000541709.1_5'UTR|DRP2_ENST00000538510.1_Missense_Mutation_p.A70T|DRP2_ENST00000402866.1_Missense_Mutation_p.A70T	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	70					central nervous system development	cytoplasm|cytoskeleton	zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						GTCTGTTGGTGCCTCTGGACC	0.517													A	100490939	G	A	100490939	3	1	497	1	0	0	0	0	1	0	0	0	4803	1319	46	2	214	2	DRP2	23	100490939	Missense_Mutation	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	413538	100490939	54779621	39	45553											
SERPINA7	6906	broad.mit.edu	37	chrX	105280487	105280487	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggcttgaggtcttgaattAgacccacaactttccctttg	8	15	8	10	0	1	3	0	2	1	1	2	3	2	3	2	2	1	1	2	2	3	6			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:105280487A>C	ENST00000327674.4	-	1	898	c.563T>G	c.(562-564)cTa>cGa	p.L188R	SERPINA7_ENST00000372563.1_Missense_Mutation_p.L188R			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	188					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GTCTTGAATTAGACCCACAAC	0.413													C	105280487	A	C	105280487	3	2	497	1	0	0	0	0	1	0	0	0	14187	420	15	5	700	5	SERPINA7	23	105280487	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	4789548	105280487	49990073	40	45554											
DOCK11	139818	broad.mit.edu	37	chrX	117773444	117773444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcggaatagaccgaaaaTcgcaaaccatgcctgctctt	13	9	7	12	3	1	1	0	0	1	1	3	3	1	2	3	1	3	2	3	1	5	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:117773444T>A	ENST00000276204.6	+	38	4122	c.4048T>A	c.(4048-4050)Tcg>Acg	p.S1350T	DOCK11_ENST00000276202.7_Missense_Mutation_p.S1350T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1350					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGACCGAAAATCGCAAACCAT	0.413													A	117773444	T	A	117773444	3	1	497	1	0	0	0	0	1	0	0	0	4725	1435	50	5	4198	5	DOCK11	23	117773444	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	12492957	117773444	37497116	41	45555											
ARHGAP36	158763	broad.mit.edu	37	chrX	130217833	130217833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggtcaggctgcgggcCgtcgtcggggaaacgtggtg	5	6	18	12	6	1	0	1	0	0	0	3	1	1	1	3	6	2	1	3	6	1	0			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:130217833C>T	ENST00000276211.5	+	4	790	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R137C|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R13C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	149	Arg-rich.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGCTGCGGGCCGTCGTCGGGG	0.622													T	130217833	C	T	130217833	3	4	497	1	0	0	0	0	1	0	0	0	886	652	23	1	455	1	ARHGAP36	23	130217833	Missense_Mutation	SNP	C	TCGA-FG-A60J-01A-11D-A289-08	12444389	130217833	25052727	42	45556											
GPR112	139378	broad.mit.edu	37	chrX	135428469	135428469	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctccattttcaacaatgctGgaagtgacagacgaatcagc	13	10	8	10	1	3	2	2	1	1	1	4	4	3	3	1	1	3	1	1	1	4	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:135428469G>C	ENST00000394143.1	+	6	2895	c.2604G>C	c.(2602-2604)ctG>ctC	p.L868L	GPR112_ENST00000394141.1_Silent_p.L663L|GPR112_ENST00000287534.4_Silent_p.L805L|GPR112_ENST00000412101.1_Silent_p.L663L|GPR112_ENST00000370652.1_Silent_p.L868L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	868					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					CAACAATGCTGGAAGTGACAG	0.398													C	135428469	G	C	135428469	2	2	497	1	0	0	0	0	0	0	0	1	6683	1335	47	4		4	GPR112	23	135428469	Silent	SNP	G	TCGA-FG-A60J-01A-11D-A289-08	5210636	135428469	19842091	43	45557											
GABRA3	2556	broad.mit.edu	37	chrX	151336930	151336930	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgggagcagcgcccttggAgatggtggaaaattcagtgt	10	9	15	7	1	1	1	1	0	0	1	1	4	1	3	1	4	2	1	1	4	2	2			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:151336930A>T	ENST00000370314.4	-	10	1487	c.1249T>A	c.(1249-1251)Tcc>Acc	p.S417T	GABRA3_ENST00000535043.1_Missense_Mutation_p.S417T|RP11-329E24.6_ENST00000453915.1_RNA	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	417					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCGCCCTTGGAGATGGTGGAA	0.552													T	151336930	A	T	151336930	3	4	497	1	0	0	0	0	1	0	0	0	6214	304	11	5	233	5	GABRA3	23	151336930	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	15908461	151336930	3933630	44	45558											
NAA10	8260	broad.mit.edu	37	chrX	153195616	153195616	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttgctctccaccttgtTctcgatggcacccagcacca	6	11	7	17	1	2	0	0	0	2	0	4	1	2	0	5	1	2	4	5	1	0	3			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153195616T>C	ENST00000464845.1	-	8	850	c.532A>G	c.(532-534)Aac>Gac	p.N178D	NAA10_ENST00000370009.1_Missense_Mutation_p.N163D|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370015.4_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	178					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						TCCACCTTGTTCTCGATGGCA	0.627													C	153195616	T	C	153195616	3	2	497	1	0	0	0	0	1	0	0	0	10192	1783	62	3	179	3	NAA10	23	153195616	Missense_Mutation	SNP	T	TCGA-FG-A60J-01A-11D-A289-08	1858686	153195616	2074944	45	45559											
TAZ	6901	broad.mit.edu	37	chrX	153640435	153640435	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgccagagtacatgaaccAcctgaccgtgcacaacaggg	12	4	10	15	2	0	3	0	2	0	1	0	3	0	3	5	1	4	2	5	1	3	1			TCGA-FG-A60J-01A-11D-A289-08	TCGA-FG-A60J-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8317d01c-1f0a-4aac-9dfe-4f873da39278	d5887198-a47e-478b-8d13-db072d97b967	g.chrX:153640435A>T	ENST00000299328.5	+	2	411	c.122A>T	c.(121-123)cAc>cTc	p.H41L	TAZ_ENST00000369790.4_Missense_Mutation_p.H41L|TAZ_ENST00000350743.4_Missense_Mutation_p.H41L|TAZ_ENST00000351413.4_Missense_Mutation_p.H41L|TAZ_ENST00000475699.1_Missense_Mutation_p.H41L|TAZ_ENST00000369776.4_Intron	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin	41					cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACATGAACCACCTGACCGTG	0.677											OREG0003602	type=REGULATORY REGION|Gene=DNASE1L1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	153640435	A	T	153640435	3	4	497	1	0	0	0	0	1	0	0	0	15693	159	6	5	128	5	TAZ	23	153640435	Missense_Mutation	SNP	A	TCGA-FG-A60J-01A-11D-A289-08	444819	153640435	1630125	46	45560											
PPOX	5498	broad.mit.edu	37	chr1	161139471	161139471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatctctaagggacagcagtCtggaggctgaccacgttatt	10	11	11	9	1	2	1	0	1	2	0	3	3	2	3	1	3	1	3	1	3	3	4			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:161139471C>G	ENST00000367999.4	+	8	1095	c.829C>G	c.(829-831)Ctg>Gtg	p.L277V	PPOX_ENST00000535223.1_Intron|PPOX_ENST00000495483.1_3'UTR|PPOX_ENST00000544598.1_Intron|PPOX_ENST00000432542.2_Intron|PPOX_ENST00000352210.5_Missense_Mutation_p.L277V	NM_001122764.1	NP_001116236.1	P50336	PPOX_HUMAN	protoporphyrinogen oxidase	277					heme biosynthetic process	intrinsic to mitochondrial inner membrane|mitochondrial intermembrane space	flavin adenine dinucleotide binding|oxygen-dependent protoporphyrinogen oxidase activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(3)	15	all_cancers(52;3.73e-19)|Breast(13;0.000577)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00275)			GGACAGCAGTCTGGAGGCTGA	0.473													G	161139471	C	G	161139471	3	3	498	1	0	0	0	0	1	0	0	0	12430	912	32	4	855	4	PPOX	1	161139471	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		161139471	88111150	1	45561											
RC3H1	149041	broad.mit.edu	37	chr1	173930321	173930321	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttcctttcgtcggcgaTgtagttcatctagactagga	8	16	9	8	3	2	1	1	0	1	1	5	3	3	2	1	2	0	2	1	2	4	7			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr1:173930321T>A	ENST00000367696.2	-	13	2615	c.2264A>T	c.(2263-2265)cAt>cTt	p.H755L	RC3H1_ENST00000367694.2_Missense_Mutation_p.H755L|RC3H1_ENST00000258349.4_Missense_Mutation_p.H755L			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	755	Pro-rich.				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						TCGTCGGCGATGTAGTTCATC	0.448													A	173930321	T	A	173930321	3	1	498	1	0	0	0	0	1	0	0	0	13254	1464	51	5	1169	5	RC3H1	1	173930321	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	12790850	173930321	75320300	2	45562											
PLB1	151056	broad.mit.edu	37	chr2	28772947	28772947	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagaaaccccaagacaagcTtgaggtaaggaaaggttttc	15	7	11	8	0	0	3	0	1	0	2	1	4	0	4	2	3	2	4	2	3	5	4			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:28772947T>C	ENST00000422425.2	+	16	1156	c.1112T>C	c.(1111-1113)cTt>cCt	p.L371P	PLB1_ENST00000327757.5_Missense_Mutation_p.L360P|PLB1_ENST00000329020.6_Missense_Mutation_p.L48P	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	360	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CAAGACAAGCTTGAGGTAAGG	0.453													C	28772947	T	C	28772947	3	2	498	1	0	0	0	0	1	0	0	0	12101	1609	56	3	1174	3	PLB1	2	28772947	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		28772947	214426426	3	45563											
GALM	130589	broad.mit.edu	37	chr2	38903112	38903112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagggtggccaaccgaatCgccaaaggaaccttcaaggt	12	5	14	10	2	1	0	1	0	0	0	2	3	1	2	4	5	2	0	4	5	5	1	rs36038004		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:38903112C>T	ENST00000272252.5	+	2	501	c.249C>T	c.(247-249)atC>atT	p.I83I	GALM_ENST00000410063.1_Intron	NM_138801.2	NP_620156.1	Q96C23	GALM_HUMAN	galactose mutarotase (aldose 1-epimerase)	83					hexose metabolic process	cytoplasm	aldose 1-epimerase activity|carbohydrate binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	14		all_hematologic(82;0.248)				CCAACCGAATCGCCAAAGGAA	0.473													T	38903112	C	T	38903112	2	4	498	1	0	0	0	0	0	0	0	1	6259	874	31	1		1	GALM	2	38903112	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	10130165	38903112	204296261	4	45564											
R3HDM1	23518	broad.mit.edu	37	chr2	136467732	136467732	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgcagtggaaacaaaaCaaatattactgtgatcacca	16	7	6	12	1	1	1	1	1	0	0	1	2	1	2	3	1	3	1	3	1	6	2			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr2:136467732C>G	ENST00000264160.4	+	22	2932	c.2562C>G	c.(2560-2562)aaC>aaG	p.N854K	R3HDM1_ENST00000410054.1_Missense_Mutation_p.N799K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.N725K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.N726K|R3HDM1_ENST00000409606.1_Missense_Mutation_p.N855K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	854							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		GGAAACAAAACAAATATTACT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	136467732	C	G	136467732	3	3	498	1	0	0	0	0	1	0	0	0	12975	477	17	4	2640	4	R3HDM1	2	136467732	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	97564620	136467732	106731641	5	45565											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	498	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	72645380	209113112	34086261	6	45566											
ZBTB20	26137	broad.mit.edu	37	chr3	114070289	114070289	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgactcgggagtgccccgCggcgtgtcctggcccgagtc	3	7	15	16	5	0	1	0	1	0	0	3	3	1	2	5	3	1	0	5	3	0	0	rs143932166	by1000genomes	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr3:114070289C>T	ENST00000462705.1	-	11	1238	c.417G>A	c.(415-417)ccG>ccA	p.P139P	ZBTB20_ENST00000471418.1_Silent_p.P139P|ZBTB20_ENST00000357258.3_Silent_p.P139P|ZBTB20_ENST00000464560.1_Silent_p.P139P|ZBTB20_ENST00000393785.2_Silent_p.P139P|ZBTB20_ENST00000474710.1_Silent_p.P212P|ZBTB20_ENST00000481632.1_Silent_p.P139P	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	212	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GAGTGCCCCGCGGCGTGTCCT	0.642													T	114070289	C	T	114070289	2	4	498	1	0	0	0	0	0	0	0	1	17630	755	27	1		1	ZBTB20	3	114070289	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		114070289	83952141	7	45567											
PCDH7	5099	broad.mit.edu	37	chr4	31144302	31144302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgccatcatgggtgaccGcaacagaaacctcctgaaca	12	5	10	14	2	1	3	1	2	0	1	2	3	2	3	5	2	3	1	5	2	3	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr4:31144302G>A	ENST00000543491.1	+	3	3599	c.3599G>A	c.(3598-3600)cGc>cAc	p.R1200H				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						ATGGGTGACCGCAACAGAAAC	0.502													A	31144302	G	A	31144302	3	1	498	1	0	0	0	0	1	0	0	0	11592	1087	38	1	3694	1	PCDH7	4	31144302	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		31144302	160009974	8	45568											
SOX4	6659	broad.mit.edu	37	chr6	21595267	21595269	+	In_Frame_Del	DEL	GGC	GGC	-																															gtggcgggggcggccatgggGgcggcggcggcggcgggagc																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:21595267_21595269delGGC	ENST00000244745.1	+	1	1296_1298	c.502_504delGGC	c.(502-504)ggcdel	p.G173del	SOX4_ENST00000543472.1_In_Frame_Del_p.G173del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	173					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			cggccatgggggcggcggcggcg	0.739													-	21595269	GGC	-	21595267	7	5	498	1	0	1	0	1	0	0	0	0	15047	1232	43	0	504	0	SOX4	6	21595267	In_Frame_Del	DEL	GGC	TCGA-FG-A60K-01A-11D-A29Q-08		21595267	149519800	9	45569											
GTF2H4	2968	broad.mit.edu	37	chr6	30879464	30879464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacctctgttcctcaggatTactctgtggaaggtatgagt	10	13	10	8	0	3	1	1	1	2	0	4	3	4	3	2	3	2	2	2	3	4	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:30879464T>C	ENST00000259895.4	+	9	968	c.745T>C	c.(745-747)Tac>Cac	p.Y249H	GTF2H4_ENST00000539324.1_Missense_Mutation_p.Y193H|GTF2H4_ENST00000376316.2_Missense_Mutation_p.Y249H	NM_001517.4	NP_001508.1	Q92759	TF2H4_HUMAN	general transcription factor IIH, polypeptide 4, 52kDa	249					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	holo TFIIH complex	protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(3)|lung(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11						TCCTCAGGATTACTCTGTGGA	0.478								Nucleotide excision repair (NER)					C	30879464	T	C	30879464	3	2	498	1	0	0	0	0	1	0	0	0	6920	1754	61	3	775	3	GTF2H4	6	30879464	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	9284197	30879464	140235603	10	45570											
TNF	7124	broad.mit.edu	37	chr6	31545282	31545282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctcgactttgccgagtctGggcaggtctactttgggatc	6	13	12	10	2	3	0	0	0	3	0	5	3	3	1	1	3	2	1	1	3	1	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:31545282G>A	ENST00000449264.2	+	4	845	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_000594.3	NP_000585.2	P01375	TNFA_HUMAN	tumor necrosis factor	224					activation of caspase activity|activation of MAPK activity|activation of MAPKKK activity|anti-apoptosis|cellular response to nicotine|chronic inflammatory response to antigenic stimulus|embryonic digestive tract development|induction of apoptosis via death domain receptors|induction of necroptosis by extracellular signals|leukocyte tethering or rolling|necrotic cell death|negative regulation of branching involved in lung morphogenesis|negative regulation of cytokine secretion involved in immune response|negative regulation of fat cell differentiation|negative regulation of interleukin-6 production|negative regulation of lipid catabolic process|negative regulation of lipid storage|negative regulation of viral genome replication|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of chemokine biosynthetic process|positive regulation of chemokine production|positive regulation of cytokine secretion|positive regulation of ERK1 and ERK2 cascade|positive regulation of fever generation|positive regulation of heterotypic cell-cell adhesion|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of membrane protein ectodomain proteolysis|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of NFAT protein import into nucleus|positive regulation of nitric oxide biosynthetic process|positive regulation of osteoclast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of podosome assembly|positive regulation of protein complex disassembly|positive regulation of smooth muscle cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D biosynthetic process|protein import into nucleus, translocation|receptor biosynthetic process|regulation of insulin secretion|response to glucocorticoid stimulus|response to salt stress|response to virus|sequestering of triglyceride|transformed cell apoptosis|tumor necrosis factor-mediated signaling pathway	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane raft|phagocytic cup|recycling endosome	cytokine activity|identical protein binding|protease binding|transcription regulatory region DNA binding|tumor necrosis factor receptor binding			large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|skin(3)	8		Ovarian(999;0.00556)			Adalimumab(DB00051)|Adenosine(DB00640)|Amrinone(DB01427)|Atorvastatin(DB01076)|Chloroquine(DB00608)|Clenbuterol(DB01407)|Etanercept(DB00005)|Glucosamine(DB01296)|Infliximab(DB00065)|Naltrexone(DB00704)|Pranlukast(DB01411)|Procaterol(DB01366)|Saquinavir(DB01232)|Simvastatin(DB00641)|Thalidomide(DB01041)	TGCCGAGTCTGGGCAGGTCTA	0.567									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				A	31545282	G	A	31545282	3	1	498	1	0	0	0	0	1	0	0	0	16371	1348	47	2	684	2	TNF	6	31545282	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	665818	31545282	139569785	11	45571											
RPS6KA2	6196	broad.mit.edu	37	chr6	167040506	167040506	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttcatgctcaggtccAtcgccccgcgcccagcccgg	5	8	9	19	4	3	0	2	0	1	0	5	0	4	0	5	2	2	1	5	2	0	2			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:167040506A>T	ENST00000265678.4	-	1	225	c.2T>A	c.(1-3)aTg>aAg	p.M1K	RPS6KA2_ENST00000510118.1_Intron|RPS6KA2_ENST00000503859.1_Intron|RPS6KA2_ENST00000366863.2_5'UTR	NM_021135.4	NP_066958.2	Q15349	KS6A2_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 2	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)		GCTCAGGTCCATCGCCCCGCG	0.716													T	167040506	A	T	167040506	1	4	498	1	0	0	0	0	0	0	0	0	13742	217	8	5		5	RPS6KA2	6	167040506	Translation_Start_Site	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08	135495224	167040506	4074561	12	45572											
KIF25	3834	broad.mit.edu	37	chr6	168430294	168430294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcaggtcagcttcagcGtgagaagcaggccaggcctg	9	6	14	12	1	3	1	3	1	0	1	3	3	3	1	3	3	3	2	3	3	1	1	rs150821798	byFrequency	TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr6:168430294G>A	ENST00000443060.2	+	3	420	c.29G>A	c.(28-30)cGt>cAt	p.R10H	KIF25_ENST00000351261.3_Missense_Mutation_p.R10H|KIF25_ENST00000354419.2_Missense_Mutation_p.R10H			Q9UIL4	KIF25_HUMAN	kinesin family member 25	10	Kinesin-motor.				microtubule-based movement|mitotic sister chromatid segregation	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CAGCTTCAGCGTGAGAAGCAG	0.632													A	168430294	G	A	168430294	3	1	498	1	0	0	0	0	1	0	0	0	8351	1145	40	1	31	1	KIF25	6	168430294	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08	1389788	168430294	2684773	13	45573											
SCARA5	286133	broad.mit.edu	37	chr8	27779274	27779274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgcaggtcctgcagccGcgtgcggtggagggccacgt	5	5	16	15	5	0	0	0	0	0	0	1	1	1	1	4	4	3	2	4	4	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr8:27779274G>A	ENST00000354914.3	-	4	1215	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	SCARA5_ENST00000524352.1_Missense_Mutation_p.R244W|SCARA5_ENST00000518030.1_Missense_Mutation_p.R201W|SCARA5_ENST00000380385.2_Intron|SCARA5_ENST00000301906.4_Missense_Mutation_p.R201W	NM_173833.5	NP_776194.2	Q6ZMJ2	SCAR5_HUMAN	scavenger receptor class A, member 5 (putative)	244					cellular iron ion homeostasis|endocytosis|iron ion transmembrane transport|protein homotrimerization	integral to plasma membrane	ferritin receptor activity|scavenger receptor activity			central_nervous_system(1)|large_intestine(6)|lung(5)|prostate(3)|skin(3)	18		Ovarian(32;0.0218)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)|Colorectal(74;0.228)		TCCTGCAGCCGCGTGCGGTGG	0.721													A	27779274	G	A	27779274	3	1	498	1	0	0	0	0	1	0	0	0	13972	1086	38	1	781	1	SCARA5	8	27779274	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		27779274	118584748	14	45574											
CNTNAP3	79937	broad.mit.edu	37	chr9	39086827	39086827	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgatgtctatctagcttGtacctaatctgcaaacttcc	9	17	5	10	0	3	1	0	1	3	0	4	1	4	1	2	0	4	3	2	0	5	8			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr9:39086827G>C	ENST00000297668.6	-	20	3313	c.3240C>G	c.(3238-3240)taC>taG	p.Y1080*	CNTNAP3_ENST00000377656.2_Nonsense_Mutation_p.Y999*|CNTNAP3_ENST00000358144.2_Nonsense_Mutation_p.Y992*	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	1080	Laminin G-like 4.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TATCTAGCTTGTACCTAATCT	0.313													C	39086827	G	C	39086827	4	2	498	1	0	0	0	0	0	1	0	0	3679	1372	48	4	646	4	CNTNAP3	9	39086827	Nonsense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		39086827	102126604	15	45575											
OR2D2	120776	broad.mit.edu	37	chr11	6912815	6912815	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttccaagccttcatgggaaaTtccttgtggctactttcctc	7	15	7	12	0	1	0	1	0	0	0	5	1	4	1	4	2	2	1	4	2	3	6			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr11:6912815T>C	ENST00000299459.2	-	1	1015	c.917A>G	c.(916-918)aAt>aGt	p.N306S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TCATGGGAAATTCCTTGTGGC	0.458													C	6912815	T	C	6912815	3	2	498	1	0	0	0	0	1	0	0	0	11070	1493	52	3	12	3	OR2D2	11	6912815	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08		6912815	128093701	16	45576											
PLEKHG6	55200	broad.mit.edu	37	chr12	6424735	6424735	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggagatgagccaggagCtctgccaccaacaggaggcc	11	3	13	14	0	1	2	0	1	1	1	1	5	1	4	5	4	4	1	5	4	1	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:6424735C>T	ENST00000449001.2	+	4	873	c.379C>T	c.(379-381)Ctc>Ttc	p.L127F	PLEKHG6_ENST00000011684.7_Missense_Mutation_p.L159F|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.L159F|PLEKHG6_ENST00000396988.3_Missense_Mutation_p.L159F	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	159					regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						GAGCCAGGAGCTCTGCCACCA	0.557													T	6424735	C	T	6424735	3	4	498	1	0	0	0	0	1	0	0	0	12151	797	28	2	535	2	PLEKHG6	12	6424735	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		6424735	127427160	17	45577											
CLEC4D	338339	broad.mit.edu	37	chr12	8673735	8673735	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagattctggcataagaaTgaacccgacaactctcaggg	13	9	9	10	1	3	3	2	1	2	2	4	4	3	3	1	2	2	1	1	2	4	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:8673735T>G	ENST00000299665.2	+	6	709	c.516T>G	c.(514-516)aaT>aaG	p.N172K		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	172	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GGCATAAGAATGAACCCGACA	0.333													G	8673735	T	G	8673735	3	3	498	1	0	0	0	0	1	0	0	0	3545	1461	51	5	538	5	CLEC4D	12	8673735	Missense_Mutation	SNP	T	TCGA-FG-A60K-01A-11D-A29Q-08	2249000	8673735	125178160	18	45578											
ACACB	32	broad.mit.edu	37	chr12	109605743	109605743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccgccgtgaagtgcatgCgctccatccgcaggtgggcc	5	8	14	14	4	0	1	0	1	0	0	2	1	2	1	5	2	3	3	5	2	1	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr12:109605743C>T	ENST00000338432.7	+	4	948	c.829C>T	c.(829-831)Cgc>Tgc	p.R277C	ACACB_ENST00000377854.5_Missense_Mutation_p.R277C|ACACB_ENST00000377848.3_Missense_Mutation_p.R277C			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	277	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GAAGTGCATGCGCTCCATCCG	0.592													T	109605743	C	T	109605743	3	4	498	1	0	0	0	0	1	0	0	0	107	768	27	1	839	1	ACACB	12	109605743	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	100932008	109605743	24246152	19	45579											
CCNA1	8900	broad.mit.edu	37	chr13	37012005	37012006	+	Frame_Shift_Ins	INS	-	-	A																															tgcacttcctgctggatttcINSaacacaggtaactgacttgc																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr13:37012005_37012006insA	ENST00000418263.1	+	3	884_885	c.534_535insA	c.(535-537)aacfs	p.N179fs	CCNA1_ENST00000440264.1_Frame_Shift_Ins_p.N136fs|CCNA1_ENST00000255465.4_Frame_Shift_Ins_p.N180fs|CCNA1_ENST00000449823.1_Frame_Shift_Ins_p.N136fs	NM_001111045.1|NM_003914.3	NP_001104515.1|NP_003905.1	P78396	CCNA1_HUMAN	cyclin A1	180					cell division|G2/M transition of mitotic cell cycle|male meiosis I|mitosis|regulation of cyclin-dependent protein kinase activity|regulation of transcription involved in G1/S phase of mitotic cell cycle|spermatogenesis	cytosol|microtubule cytoskeleton|nucleoplasm	protein kinase binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(2)|urinary_tract(1)	35		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.91e-07)|Epithelial(112;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0119)|GBM - Glioblastoma multiforme(144;0.0242)		TGCTGGATTTCAACACAGGTAA	0.47													A	37012006	-	A	37012005	7	5	498	1	0	1	1	0	0	0	0	0	2939	825	29	0	547	0	CCNA1	13	37012005	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08		37012005	78157873	20	45580											
REC8	9985	broad.mit.edu	37	chr14	24648076	24648076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagctgcctgaggaggcagCcgctgaggaggaaaggagaa	13	3	18	7	1	0	4	0	2	0	2	0	8	0	7	2	5	3	3	2	5	2	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr14:24648076C>T	ENST00000311457.3	+	15	1753	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V	REC8_ENST00000559919.1_Missense_Mutation_p.A385V			O95072	REC8_HUMAN	REC8 meiotic recombination protein	386	Glu-rich.				mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		GAGGAGGCAGCCGCTGAGGAG	0.587													T	24648076	C	T	24648076	3	4	498	1	0	0	0	0	1	0	0	0	13287	739	26	2	1208	2	REC8	14	24648076	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		24648076	82701464	21	45581											
TTBK2	146057	broad.mit.edu	37	chr15	43102841	43102841	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggttttgtaaaataatccaAagaagagatatggtctagaa	17	12	9	3	0	1	3	0	0	1	3	2	4	2	3	1	2	0	2	1	2	8	6			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr15:43102841A>C	ENST00000267890.6	-	9	901	c.793T>G	c.(793-795)Ttg>Gtg	p.L265V	TTBK2_ENST00000567274.1_Missense_Mutation_p.L230V|TTBK2_ENST00000567840.1_Missense_Mutation_p.L265V	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	265	Protein kinase.				cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		AAATAATCCAAAGAAGAGATA	0.398													C	43102841	A	C	43102841	3	2	498	1	0	0	0	0	1	0	0	0	16779	11	1	5	2969	5	TTBK2	15	43102841	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		43102841	59428551	22	45582											
GLIS2	84662	broad.mit.edu	37	chr16	4385109	4385109	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	acctggtggaccatgtcaacGattaccatgtcaagcccgag	11	8	10	12	2	2	0	2	0	0	0	2	3	2	1	4	2	3	0	4	2	3	1			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr16:4385109G>C	ENST00000262366.3	+	6	1392	c.571G>C	c.(571-573)Gat>Cat	p.D191H	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Missense_Mutation_p.D191H			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	191					cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCATGTCAACGATTACCATGT	0.617													C	4385109	G	C	4385109	3	2	498	1	0	0	0	0	1	0	0	0	6502	1058	37	4	585	4	GLIS2	16	4385109	Missense_Mutation	SNP	G	TCGA-FG-A60K-01A-11D-A29Q-08		4385109	85969644	23	45583											
AATK	9625	broad.mit.edu	37	chr17	79094374	79094374	+	Frame_Shift_Del	DEL	G	G	-																															ccggccctgacaacagtcctGggggcccctggaactcagag																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr17:79094374delG	ENST00000326724.4	-	11	3386	c.3362delC	c.(3361-3363)ccafs	p.P1121fs	AATK_ENST00000417379.1_Frame_Shift_Del_p.P1018fs	NM_001080395.2	NP_001073864.2	Q6ZMQ8	LMTK1_HUMAN	apoptosis-associated tyrosine kinase	1121	Pro-rich.					integral to membrane|mitochondrion|perinuclear region of cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(2)|lung(8)|ovary(3)|prostate(1)|stomach(4)|upper_aerodigestive_tract(1)	21	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CAACAGTCCTGGGGGCCCCTG	0.692													-	79094374	G	-	79094374	7	5	498	1	0	1	0	1	0	0	0	0	26	1348	47	0	778	0	AATK	17	79094374	Frame_Shift_Del	DEL	G	TCGA-FG-A60K-01A-11D-A29Q-08		79094374	2100836	24	45584											
DOCK6	57572	broad.mit.edu	37	chr19	11348871	11348871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acagccactgaccggcagagCctggctggggtcctcgcctg	6	6	14	15	2	0	2	0	1	0	1	2	2	1	2	5	4	2	2	5	4	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:11348871C>T	ENST00000294618.7	-	15	1764	c.1753G>A	c.(1753-1755)Gct>Act	p.A585T	C19orf80_ENST00000591200.1_Intron	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	585	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						ACCGGCAGAGCCTGGCTGGGG	0.637													T	11348871	C	T	11348871	3	4	498	1	0	0	0	0	1	0	0	0	4730	739	26	2	4526	2	DOCK6	19	11348871	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		11348871	47780112	25	45585											
CIC	23152	broad.mit.edu	37	chr19	42798816	42798817	+	Frame_Shift_Ins	INS	-	-	GCGG																															aaggtgccatactcctccctINSgcggcgcaccctggaccagc																										TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr19:42798816_42798817insGCGG	ENST00000572681.2	+	20	7174_7175	c.7106_7107insGCGG	c.(7105-7110)ctgcggfs	p.-2370fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.-1462fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.-1464fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACTCCTCCCTGCGGCGCACCC	0.629			"Mis, F, S"		oligodendroglioma								GCGG	42798817	-	GCGG	42798816	7	5	498	1	0	1	1	0	0	0	0	0	3454	1580	55	0	4462	0	CIC	19	42798816	Frame_Shift_Ins	INS	-	TCGA-FG-A60K-01A-11D-A29Q-08	31449945	42798816	16330167	26	45586											
FAM65C	140876	broad.mit.edu	37	chr20	49224997	49224997	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accacgatgacctgcggccgCgtcgtgaagaagtcggcgat	9	6	14	12	7	0	3	0	2	0	1	2	5	0	3	3	2	1	0	3	2	2	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr20:49224997C>T	ENST00000327979.2	-	11	1284	c.873G>A	c.(871-873)acG>acA	p.T291T	FAM65C_ENST00000045083.2_Silent_p.T291T|FAM65C_ENST00000535356.1_Silent_p.T295T			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	291										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCTGCGGCCGCGTCGTGAAGA	0.662													T	49224997	C	T	49224997	2	4	498	1	0	0	0	0	0	0	0	1	5651	755	27	1		1	FAM65C	20	49224997	Silent	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		49224997	13800523	27	45587											
CRYAA	1409	broad.mit.edu	37	chr21	44592355	44592355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagccatccccgtgtcgCgggaggagaagcccacctcg	8	4	14	15	5	0	1	0	0	0	1	3	4	1	2	5	2	3	0	5	2	1	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr21:44592355C>T	ENST00000291554.2	+	3	579	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CRYAA_ENST00000398132.1_Missense_Mutation_p.R126W|CRYAA_ENST00000482775.1_3'UTR|CRYAA_ENST00000398133.1_Missense_Mutation_p.R143W	NM_000394.2	NP_000385.1	P02489	CRYAA_HUMAN	crystallin, alpha A	163					anti-apoptosis|negative regulation of intracellular transport|protein homooligomerization|response to heat|visual perception	cytoplasm|nucleus	structural constituent of eye lens|unfolded protein binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	11						CCCCGTGTCGCGGGAGGAGAA	0.677													T	44592355	C	T	44592355	3	4	498	1	0	0	0	0	1	0	0	0	3936	759	27	1	497	1	CRYAA	21	44592355	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		44592355	3537540	28	45588											
SLC35E4	339665	broad.mit.edu	37	chr22	31032741	31032741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accggggggcacggcgccccAtgccaggcggcactcgctgc	5	3	16	17	5	0	0	0	0	0	0	1	0	0	0	4	6	2	3	4	6	0	0			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chr22:31032741A>G	ENST00000343605.4	+	1	1103	c.304A>G	c.(304-306)Atg>Gtg	p.M102V	SLC35E4_ENST00000300385.8_Missense_Mutation_p.M102V|SLC35E4_ENST00000406566.1_Missense_Mutation_p.M102V	NM_001001479.2	NP_001001479.1	Q6ICL7	S35E4_HUMAN	solute carrier family 35, member E4	102						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACGGCGCCCCATGCCAGGCGG	0.687													G	31032741	A	G	31032741	3	3	498	1	0	0	0	0	1	0	0	0	14681	217	8	3	306	3	SLC35E4	22	31032741	Missense_Mutation	SNP	A	TCGA-FG-A60K-01A-11D-A29Q-08		31032741	20271825	29	45589											
MED12	9968	broad.mit.edu	37	chrX	70346299	70346299	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgacctcatggaatattcaCtcagcatcagtggcctcatc	10	11	7	13	1	5	0	5	0	0	0	7	2	5	1	2	2	1	1	2	2	2	2			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70346299C>G	ENST00000333646.6	+	19	2849	c.2650C>G	c.(2650-2652)Ctc>Gtc	p.L884V	MED12_ENST00000462984.1_3'UTR|MED12_ENST00000374080.3_Missense_Mutation_p.L884V|MED12_ENST00000374102.1_Missense_Mutation_p.L884V	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	884					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GGAATATTCACTCAGCATCAG	0.532			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						G	70346299	C	G	70346299	3	3	498	1	0	0	0	0	1	0	0	0	9503	565	20	4	2724	4	MED12	23	70346299	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08		70346299	84924261	30	45590											
ZMYM3	9203	broad.mit.edu	37	chrX	70463798	70463798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagcagctgagcaggCgagaatatcctctttgatac	11	9	11	10	1	2	3	1	2	1	1	3	5	3	3	1	1	5	4	1	1	3	3			TCGA-FG-A60K-01A-11D-A29Q-08	TCGA-FG-A60K-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb946068-0a96-4764-a502-6a91cffa9990	d1f8c42a-8fdb-4ccf-a5c4-34abbfc28991	g.chrX:70463798C>T	ENST00000373998.1	-	21	3974	c.3277G>A	c.(3277-3279)Gcc>Acc	p.A1093T	ZMYM3_ENST00000373988.1_Missense_Mutation_p.A1107T|ZMYM3_ENST00000373984.3_Missense_Mutation_p.A1100T|ZMYM3_ENST00000353904.2_Missense_Mutation_p.A1105T|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000314425.5_Missense_Mutation_p.A1105T	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1105					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTGAGCAGGCGAGAATATCC	0.458													T	70463798	C	T	70463798	3	4	498	1	0	0	0	0	1	0	0	0	17802	768	27	1	819	1	ZMYM3	23	70463798	Missense_Mutation	SNP	C	TCGA-FG-A60K-01A-11D-A29Q-08	117499	70463798	84806762	31	45591											
ARID1A	8289	broad.mit.edu	37	chr1	27059244	27059245	+	Frame_Shift_Ins	INS	-	-	ATGA																															gtaagggagggcaagaagatINSatgaacctgagccttcagtc																										TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:27059244_27059245insATGA	ENST00000324856.7	+	4	2252_2253	c.1881_1882insATGA	c.(1882-1884)atgfs	p.-629fs	ARID1A_ENST00000457599.2_Frame_Shift_Ins_p.-629fs|ARID1A_ENST00000374152.2_Frame_Shift_Ins_p.-246fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)						androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.D627fs*2(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCAAGAAGATATGAACCTGAG	0.475			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								ATGA	27059245	-	ATGA	27059244	7	5	499	1	0	1	1	0	0	0	0	0	916	1403	49	0	1895	0	ARID1A	1	27059244	Frame_Shift_Ins	INS	-	TCGA-FG-A60L-01A-12D-A31L-08		27059244	222191377	1	45592											
ECM1	1893	broad.mit.edu	37	chr1	150482462	150482462	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctgctacctgcccaactCcctgctgaaaaggaaggtga	12	7	10	12	0	0	2	0	2	0	0	1	3	1	3	3	2	6	3	3	2	6	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr1:150482462C>A	ENST00000369047.4	+	4	413	c.288C>A	c.(286-288)ctC>ctA	p.L96L	ECM1_ENST00000346569.6_Silent_p.L96L|ECM1_ENST00000369049.4_Silent_p.L123L|ECM1_ENST00000470432.1_3'UTR	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	96					angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			CTGCCCAACTCCCTGCTGAAA	0.592													A	150482462	C	A	150482462	2	1	499	1	0	0	0	0	0	0	0	1	4936	842	30	4		4	ECM1	1	150482462	Silent	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	123423218	150482462	98768159	2	45593											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	499	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		209113112	34086261	3	45594											
FGD5	152273	broad.mit.edu	37	chr3	14965518	14965518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttctttcagttacagagcGgcctgtgagcatgagcttcc	7	12	11	11	1	2	3	1	2	1	1	3	3	3	3	2	1	4	4	2	1	1	4			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr3:14965518G>A	ENST00000285046.5	+	17	4051	c.3941G>A	c.(3940-3942)cGg>cAg	p.R1314Q	FGD5_ENST00000476851.1_3'UTR|FGD5_ENST00000543601.1_Missense_Mutation_p.R1073Q|FGD5-AS1_ENST00000430166.1_RNA	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1314					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						GTTACAGAGCGGCCTGTGAGC	0.537													A	14965518	G	A	14965518	3	1	499	1	0	0	0	0	1	0	0	0	5885	1116	39	1	4007	1	FGD5	3	14965518	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		14965518	183056912	4	45595											
FGFBP1	9982	broad.mit.edu	37	chr4	15938242	15938242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagagcagggtgaggCtacagatcttcatggctgca	11	7	16	7	0	2	3	1	1	1	2	2	5	2	4	0	5	3	4	0	5	2	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:15938242C>T	ENST00000382333.1	-	3	308	c.14G>A	c.(13-15)aGc>aAc	p.S5N	FGFBP1_ENST00000259988.2_Missense_Mutation_p.S5N	NM_005130.4	NP_005121.1	Q14512	FGFP1_HUMAN	fibroblast growth factor binding protein 1	5					cell-cell signaling|negative regulation of cell proliferation|signal transduction	extracellular space|plasma membrane	heparin binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(2)|prostate(2)|skin(1)	10						CAGGGTGAGGCTACAGATCTT	0.537													T	15938242	C	T	15938242	3	4	499	1	0	0	0	0	1	0	0	0	5909	797	28	2	694	2	FGFBP1	4	15938242	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		15938242	175216034	5	45596											
HERC5	51191	broad.mit.edu	37	chr4	89407330	89407330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgaactcttgcaccgtcTcaatttttttgtagaagtat	11	15	7	8	2	2	2	1	0	2	2	3	3	2	2	1	0	2	3	1	0	5	6			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr4:89407330T>C	ENST00000264350.3	+	14	1955	c.1802T>C	c.(1801-1803)cTc>cCc	p.L601P	HERC5_ENST00000508159.1_Missense_Mutation_p.L239P	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	601					innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		TTGCACCGTCTCAATTTTTTT	0.333													C	89407330	T	C	89407330	3	2	499	1	0	0	0	0	1	0	0	0	7116	1551	54	3	1856	3	HERC5	4	89407330	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08	73469088	89407330	101746946	6	45597											
PCDHB15	56121	broad.mit.edu	37	chr5	140626622	140626622	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacctactcgctgctgccGccccgggacccgcacctgcc	4	6	10	21	4	1	0	1	0	0	0	2	1	1	1	7	1	4	3	7	1	1	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140626622G>A	ENST00000231173.3	+	1	1476	c.1476G>A	c.(1474-1476)ccG>ccA	p.P492P		NM_018935.2	NP_061758.1	Q9Y5E8	PCDBF_HUMAN		492	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(8)|kidney(3)|large_intestine(14)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	61			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGCTGCTGCCGCCCCGGGACC	0.667													A	140626622	G	A	140626622	2	1	499	1	0	0	0	0	0	0	0	1	11616	1074	38	1		1	PCDHB15	5	140626622	Silent	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		140626622	40288638	7	45598											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725644	140725644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcagcctcgagccctccGccaaacccaacgattcggac	9	5	10	17	4	0	0	0	0	0	0	3	3	1	1	5	2	4	1	5	2	2	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:140725644G>A	ENST00000253812.6	+	1	2044	c.2044G>A	c.(2044-2046)Gcc>Acc	p.A682T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGAGCCCTCCGCCAAACCCAA	0.687													A	140725644	G	A	140725644	3	1	499	1	0	0	0	0	1	0	0	0	11631	1087	38	1	2046	1	PCDHGA3	5	140725644	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	99022	140725644	40189616	8	45599											
FABP6	2172	broad.mit.edu	37	chr5	159656578	159656578	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcagcatggctttcaccgGcaagttcgagatggagagtg	10	8	14	9	2	1	2	1	0	0	2	2	4	1	2	1	3	2	5	1	3	1	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr5:159656578G>A	ENST00000393980.4	+	4	307	c.161G>A	c.(160-162)gGc>gAc	p.G54D	FABP6_ENST00000393982.1_Missense_Mutation_p.G54D|FABP6_ENST00000402432.3_Missense_Mutation_p.G5D	NM_001130958.1	NP_001124430.1	P51161	FABP6_HUMAN	fatty acid binding protein 6, ileal	5					bile acid and bile salt transport|bile acid metabolic process|negative regulation of cell proliferation	cytosol	transporter activity	p.G54D(1)|p.G5D(1)		breast(1)|kidney(1)|large_intestine(1)|lung(2)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCTTTCACCGGCAAGTTCGAG	0.537													A	159656578	G	A	159656578	3	1	499	1	0	0	0	0	1	0	0	0	5406	1203	42	2	171	2	FABP6	5	159656578	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	18930934	159656578	21258682	9	45600											
ABCC10	89845	broad.mit.edu	37	chr6	43403589	43403589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaaagtgtccttggaccGgatccagcttttcctcgacc	7	10	10	14	2	0	0	0	0	0	0	4	3	3	2	6	3	1	1	6	3	1	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:43403589G>A	ENST00000244533.3	+	3	1939	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q	ABCC10_ENST00000372530.4_Missense_Mutation_p.R570Q	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	570	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R527Q(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TCCTTGGACCGGATCCAGCTT	0.567													A	43403589	G	A	43403589	3	1	499	1	0	0	0	0	1	0	0	0	50	1116	39	1	1590	1	ABCC10	6	43403589	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		43403589	127711478	10	45601											
THBS2	7058	broad.mit.edu	37	chr6	169648831	169648831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagccaacagcgtgcccCtggacttgccgtcctgcttg	6	8	11	16	2	0	1	0	0	0	1	1	2	1	2	6	1	6	1	6	1	1	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr6:169648831C>T	ENST00000366787.3	-	4	539	c.290G>A	c.(289-291)aGg>aAg	p.R97K		NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	97	Heparin-binding (Potential).|TSP N-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CAGCGTGCCCCTGGACTTGCC	0.622													T	169648831	C	T	169648831	3	4	499	1	0	0	0	0	1	0	0	0	15954	681	24	2	3308	2	THBS2	6	169648831	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	126245242	169648831	1466236	11	45602											
SHB	6461	broad.mit.edu	37	chr9	38016073	38016073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccccctttcctgctttgCtcttgagatcattcttggca	4	17	6	14	0	4	1	1	1	3	1	6	2	5	1	3	1	2	3	3	1	0	5			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr9:38016073C>G	ENST00000377707.3	-	2	1338	c.773G>C	c.(772-774)aGc>aCc	p.S258T	SHB_ENST00000377700.4_Missense_Mutation_p.S258T|RP11-613M10.9_ENST00000540557.1_Missense_Mutation_p.S258T	NM_003028.2	NP_003019.2	Q15464	SHB_HUMAN	Src homology 2 domain containing adaptor protein B	258	Mediates interaction with LAT, FAK1, JAK1 and JAK3.				angiogenesis|apoptosis|cell differentiation|signal transduction	cytoplasm|plasma membrane	SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(4)|lung(1)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)	11		all_epithelial(88;0.122)		GBM - Glioblastoma multiforme(29;3.27e-05)|Lung(182;0.0658)		TCCTGCTTTGCTCTTGAGATC	0.537													G	38016073	C	G	38016073	3	3	499	1	0	0	0	0	1	0	0	0	14362	797	28	4	776	4	SHB	9	38016073	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		38016073	103197358	12	45603											
AP3M1	26985	broad.mit.edu	37	chr10	75893895	75893895	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttggacagctgcccggtgGggagtgtgtccccaacatta	7	10	14	10	1	0	0	0	0	0	0	1	2	1	2	3	4	3	2	3	4	2	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr10:75893895G>A	ENST00000355264.4	-	4	784	c.473C>T	c.(472-474)cCc>cTc	p.P158L	AP3M1_ENST00000372745.1_Missense_Mutation_p.P158L	NM_012095.4	NP_036227.1	Q9Y2T2	AP3M1_HUMAN	adaptor-related protein complex 3, mu 1 subunit	158					protein targeting to lysosome|vesicle-mediated transport	clathrin adaptor complex|Golgi apparatus|lysosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	13	Prostate(51;0.0112)					CTGCCCGGTGGGGAGTGTGTC	0.408													A	75893895	G	A	75893895	3	1	499	1	0	0	0	0	1	0	0	0	749	1232	43	2	807	2	AP3M1	10	75893895	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		75893895	59640852	13	45604											
AMIGO2	347902	broad.mit.edu	37	chr12	47472572	47472572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataactcaggtccagtcTcttaatcagtctgaaaaggt	12	13	8	8	0	4	1	2	1	2	0	6	1	5	1	1	2	1	1	1	2	5	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:47472572T>C	ENST00000266581.4	-	2	680	c.214A>G	c.(214-216)Aga>Gga	p.R72G	AMIGO2_ENST00000429635.1_Missense_Mutation_p.R72G|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R72G|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R72G	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	72					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AGGTCCAGTCTCTTAATCAGT	0.478													C	47472572	T	C	47472572	3	2	499	1	0	0	0	0	1	0	0	0	576	1559	54	3	1358	3	AMIGO2	12	47472572	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08		47472572	86379323	14	45605											
KRT71	112802	broad.mit.edu	37	chr12	52940220	52940220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctccagctcgtccagcttgGcccgggcatccttcagggcg	4	8	12	17	3	1	0	1	0	0	0	5	0	4	0	5	3	2	3	5	3	0	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr12:52940220G>A	ENST00000267119.5	-	7	1244	c.1175C>T	c.(1174-1176)gCc>gTc	p.A392V		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	392	Coil 2.|Rod.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		GTCCAGCTTGGCCCGGGCATC	0.622													A	52940220	G	A	52940220	3	1	499	1	0	0	0	0	1	0	0	0	8542	1203	42	2	408	2	KRT71	12	52940220	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	5467648	52940220	80911675	15	45606											
SERPINA6	866	broad.mit.edu	37	chr14	94780585	94780585	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaactccaggctgccaTcaagaaacaaggcattgccc	13	5	8	15	0	1	1	1	0	0	1	2	1	2	1	4	2	5	3	4	2	4	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94780585T>C	ENST00000341584.3	-	2	547	c.401A>G	c.(400-402)gAt>gGt	p.D134G		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	134					regulation of proteolysis|transport	extracellular space	serine-type endopeptidase inhibitor activity|steroid binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	CAGGCTGCCATCAAGAAACAA	0.502													C	94780585	T	C	94780585	3	2	499	1	0	0	0	0	1	0	0	0	14186	1435	50	3	832	3	SERPINA6	14	94780585	Missense_Mutation	SNP	T	TCGA-FG-A60L-01A-12D-A31L-08		94780585	12568955	16	45607											
SERPINA11	256394	broad.mit.edu	37	chr14	94914772	94914772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggaagccctggtggatgtCggcttcaggggtttctgtga	5	11	16	9	2	2	1	1	1	1	0	3	3	2	3	2	6	1	2	2	6	1	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr14:94914772C>T	ENST00000334708.3	-	2	404	c.340G>A	c.(340-342)Gac>Aac	p.D114N	RP11-349I1.2_ENST00000536735.1_RNA	NM_001080451.1	NP_001073920.1	Q86U17	SPA11_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 11	114					regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(14)|skin(1)|upper_aerodigestive_tract(1)	24				COAD - Colon adenocarcinoma(157;0.211)		TGGTGGATGTCGGCTTCAGGG	0.592													T	94914772	C	T	94914772	3	4	499	1	0	0	0	0	1	0	0	0	14181	884	31	1	944	1	SERPINA11	14	94914772	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	134187	94914772	12434768	17	45608											
KLHL25	64410	broad.mit.edu	37	chr15	86312002	86312002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccgttctcggagcccctgCcccccgtcacatagaccttg	5	8	8	20	3	2	1	1	0	1	1	3	2	2	2	8	1	2	1	8	1	1	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr15:86312002C>T	ENST00000337975.5	-	2	1314	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	KLHL25_ENST00000536947.1_Missense_Mutation_p.G347D|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	347						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						GGAGCCCCTGCCCCCCGTCAC	0.637													T	86312002	C	T	86312002	3	4	499	1	0	0	0	0	1	0	0	0	8438	739	26	2	733	2	KLHL25	15	86312002	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		86312002	16219390	18	45609											
MYH11	4629	broad.mit.edu	37	chr16	15813153	15813153	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtttgcgagccctctcagCggcggcgaggtcctaggtgg	4	10	16	11	4	1	0	1	0	1	0	3	2	2	0	2	5	3	1	2	5	1	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:15813153C>T	ENST00000452625.2	-	37	5203	c.5116G>A	c.(5116-5118)Gct>Act	p.A1706T	NDE1_ENST00000342673.5_Intron|NDE1_ENST00000396355.1_Intron|MYH11_ENST00000576790.2_Missense_Mutation_p.A1699T|MYH11_ENST00000300036.5_Missense_Mutation_p.A1699T|NDE1_ENST00000396354.1_Intron|MYH11_ENST00000396324.3_Missense_Mutation_p.A1706T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1699					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						GCCCTCTCAGCGGCGGCGAGG	0.602			T	CBFB	AML								T	15813153	C	T	15813153	3	4	499	1	0	0	0	0	1	0	0	0	10107	768	27	1	882	1	MYH11	16	15813153	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		15813153	74541600	19	45610											
ZNF689	115509	broad.mit.edu	37	chr16	30616551	30616551	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagcggcgcccacagtctggGcaagggtaaggcttttttag	9	9	14	9	2	1	0	0	0	1	0	1	0	1	0	1	4	1	3	1	4	4	4			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr16:30616551G>C	ENST00000287461.3	-	3	874	c.537C>G	c.(535-537)tgC>tgG	p.C179W	ZNF689_ENST00000566673.1_5'UTR|RP11-146F11.5_ENST00000563540.1_RNA	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	179					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			CACAGTCTGGGCAAGGGTAAG	0.612													C	30616551	G	C	30616551	3	2	499	1	0	0	0	0	1	0	0	0	18195	1195	42	4	969	4	ZNF689	16	30616551	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	14803398	30616551	59738202	20	45611											
ATP2A3	489	broad.mit.edu	37	chr17	3844416	3844416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcggcccgtgtaggccttgCccgccacgtcttccgtgtcc	2	9	12	18	6	1	0	0	0	1	0	3	0	3	0	6	2	1	1	6	2	1	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:3844416C>T	ENST00000309890.7	-	14	2099	c.1949G>A	c.(1948-1950)gGc>gAc	p.G650D	ATP2A3_ENST00000397043.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397041.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000359983.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397035.3_Missense_Mutation_p.G650D|ATP2A3_ENST00000397039.1_5'UTR|ATP2A3_ENST00000352011.3_Missense_Mutation_p.G650D	NM_174953.2|NM_174954.2|NM_174955.2|NM_174956.2	NP_777613.1|NP_777614.1|NP_777615.1|NP_777616.1	Q93084	AT2A3_HUMAN	ATPase, Ca++ transporting, ubiquitous	650					ATP biosynthetic process|platelet activation	integral to membrane|nuclear membrane|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	ATP binding|calcium-transporting ATPase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	36				LUAD - Lung adenocarcinoma(1115;0.000692)|Lung(3;0.0766)		GTAGGCCTTGCCCGCCACGTC	0.687													T	3844416	C	T	3844416	3	4	499	1	0	0	0	0	1	0	0	0	1143	739	26	2	1293	2	ATP2A3	17	3844416	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		3844416	77350794	21	45612											
TP53	7157	broad.mit.edu	37	chr17	7576926	7576937	+	Splice_Site	DEL	GCTAGGAAAGAG	GCTAGGAAAGAG	-																															agctggtgttgttgggcagtGctaggaaagaggcaaggaaa																								rs34361146	byFrequency	TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:7576926_7576937delGCTAGGAAAGAG	ENST00000420246.2	-	9	1052	c.920delCTCTTTCCTAGC	c.(919-921)gct>gt	p.A307del	TP53_ENST00000269305.4_Splice_Site_p.A307del|TP53_ENST00000359597.4_Splice_Site_p.A307del|TP53_ENST00000445888.2_Splice_Site_p.A307del|TP53_ENST00000455263.2_Splice_Site_p.A307del|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	307	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		A -> P (in a sporadic cancer; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> 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.?(47)|p.0?(8)|p.A307fs*34(1)|p.L308fs*31(1)|p.A307V(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)		GTTGGGCAGTGCTAGGAAAGAGGCAAGGAAAG	0.5		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)			-	7576937	GCTAGGAAAGAG	-	7576926	8	5	499	1	0	1	0	1	0	0	1	0	16482	1333	46	0	362	0	TP53	17	7576926	Splice_Site	DEL	GCTAGGAAAGAG	TCGA-FG-A60L-01A-12D-A31L-08	3732510	7576926	73618284	22	45613											
MYH2	4620	broad.mit.edu	37	chr17	10428846	10428846	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcattctttatcttgaacaGctcagtgccaagggaacggg	10	10	12	9	1	3	1	1	1	2	0	3	2	3	2	1	3	4	2	1	3	4	4			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr17:10428846G>C	ENST00000245503.5	-	32	4843	c.4459C>G	c.(4459-4461)Ctg>Gtg	p.L1487V	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.L1487V|CTC-297N7.11_ENST00000587182.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1487					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						ATCTTGAACAGCTCAGTGCCA	0.458													C	10428846	G	C	10428846	3	2	499	1	0	0	0	0	1	0	0	0	10111	962	34	4	1402	4	MYH2	17	10428846	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	2851920	10428846	70766364	23	45614											
DLGAP1	9229	broad.mit.edu	37	chr18	3499331	3499331	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctccagcgagcgctccCggatcagcggcgcggggccc	5	4	15	17	6	2	0	1	0	1	0	4	2	3	1	3	4	4	2	3	4	0	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:3499331C>T	ENST00000315677.3	-	13	3381	c.2786G>A	c.(2785-2787)cGg>cAg	p.R929Q	DLGAP1_ENST00000400149.3_Missense_Mutation_p.R619Q|DLGAP1_ENST00000534970.1_Missense_Mutation_p.R613Q|DLGAP1_ENST00000400150.3_Missense_Mutation_p.R645Q|DLGAP1_ENST00000400147.2_Missense_Mutation_p.R627Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R929Q|DLGAP1_ENST00000400155.1_Missense_Mutation_p.R635Q|DLGAP1_ENST00000539435.1_Missense_Mutation_p.R637Q|DLGAP1_ENST00000581699.1_Missense_Mutation_p.R635Q	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	929					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CGAGCGCTCCCGGATCAGCGG	0.677													T	3499331	C	T	3499331	3	4	499	1	0	0	0	0	1	0	0	0	4598	652	23	1	151	1	DLGAP1	18	3499331	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		3499331	74577917	24	45615											
PTPRM	5797	broad.mit.edu	37	chr18	8379324	8379324	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagcagcaactacatcaatGctgccctcatggacgtgagt	12	8	10	11	1	2	2	2	1	0	1	2	3	2	3	1	1	6	3	1	1	3	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:8379324G>A	ENST00000332175.8	+	26	4770	c.3733G>A	c.(3733-3735)Gct>Act	p.A1245T	PTPRM_ENST00000400053.4_Missense_Mutation_p.A1183T|PTPRM_ENST00000444013.1_Missense_Mutation_p.A1032T|PTPRM_ENST00000400060.4_Missense_Mutation_p.A1259T|PTPRM_ENST00000580170.1_Missense_Mutation_p.A1258T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1245	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				CTACATCAATGCTGCCCTCAT	0.607													A	8379324	G	A	8379324	3	1	499	1	0	0	0	0	1	0	0	0	12894	1319	46	2	3882	2	PTPRM	18	8379324	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	4879993	8379324	69697924	25	45616											
LIPG	9388	broad.mit.edu	37	chr18	47095873	47095873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcggagcgcacgtggccGggtatgcaggcaacttcgtg	6	7	16	12	5	0	0	0	0	0	0	2	1	0	1	2	4	3	4	2	4	2	2			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr18:47095873G>A	ENST00000261292.4	+	4	804	c.526G>A	c.(526-528)Ggg>Agg	p.G176R	LIPG_ENST00000577628.1_Missense_Mutation_p.G212R|LIPG_ENST00000580036.1_Missense_Mutation_p.G176R|LIPG_ENST00000427224.2_Missense_Mutation_p.G176R	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	176					cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCACGTGGCCGGGTATGCAGG	0.542													A	47095873	G	A	47095873	3	1	499	1	0	0	0	0	1	0	0	0	8884	1116	39	1	540	1	LIPG	18	47095873	Missense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	38716549	47095873	30981375	26	45617											
CENPB	1059	broad.mit.edu	37	chr20	3766523	3766524	+	Frame_Shift_Ins	INS	-	-	T																															cgcggcctggtcgggcaggaINSagtcgtaccatagactggtc																										TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:3766523_3766524insT	ENST00000379751.4	-	1	813_814	c.607_608insA	c.(607-609)ttcfs	p.F203fs		NM_001810.5	NP_001801.1	P07199	CENPB_HUMAN	centromere protein B, 80kDa	203					regulation of transcription, DNA-dependent	chromosome, centromeric region|nucleus	chromatin binding|satellite DNA binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)	8						GTCGGGCAGGAAGTCGTACCAT	0.708													T	3766524	-	T	3766523	7	5	499	1	0	1	1	0	0	0	0	0	3257	246	9	0	1195	0	CENPB	20	3766523	Frame_Shift_Ins	INS	-	TCGA-FG-A60L-01A-12D-A31L-08		3766523	59258997	27	45618											
KIF16B	55614	broad.mit.edu	37	chr20	16359697	16359697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctttttcctcactttttCctcctgacgtgcaatgttgg	4	19	6	12	1	1	1	1	1	0	0	5	1	5	1	4	1	1	2	4	1	1	6			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:16359697C>A	ENST00000354981.2	-	19	3107	c.2950G>T	c.(2950-2952)Gaa>Taa	p.E984*	KIF16B_ENST00000378003.2_Nonsense_Mutation_p.E210*|KIF16B_ENST00000355755.3_Nonsense_Mutation_p.E984*|KIF16B_ENST00000408042.1_Nonsense_Mutation_p.E984*	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	984	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity	p.E984K(2)|p.E984*(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTCACTTTTTCCTCCTGACGT	0.512													A	16359697	C	A	16359697	4	1	499	1	0	0	0	0	0	1	0	0	8336	864	30	4	1035	4	KIF16B	20	16359697	Nonsense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	12593174	16359697	46665823	28	45619											
CDH22	64405	broad.mit.edu	37	chr20	44803600	44803600	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgtaggcttcggtgtcctGctcgccgccgccttcgtcgt	1	12	13	15	7	0	0	0	0	0	0	6	0	1	0	4	2	1	3	4	2	1	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:44803600G>A	ENST00000372262.3	-	11	2432	c.2032C>T	c.(2032-2034)Cag>Tag	p.Q678*	CDH22_ENST00000537909.1_Nonsense_Mutation_p.Q678*	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	678					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGGTGTCCTGCTCGCCGCCG	0.677													A	44803600	G	A	44803600	4	1	499	1	0	0	0	0	0	1	0	0	3137	1328	46	2	458	2	CDH22	20	44803600	Nonsense_Mutation	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08	28443903	44803600	18221920	29	45620											
ATP9A	10079	broad.mit.edu	37	chr20	50346470	50346470	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccccagccagacagtgCggggcctggcctcccctcca	5	5	13	18	1	0	1	0	0	0	1	2	1	2	1	8	4	3	0	8	4	0	0			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr20:50346470C>T	ENST00000338821.5	-	2	380	c.116G>A	c.(115-117)cGc>cAc	p.R39H	ATP9A_ENST00000477492.1_5'UTR|ATP9A_ENST00000311637.5_Missense_Mutation_p.R24H|ATP9A_ENST00000402822.1_Missense_Mutation_p.R39H	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	39					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						CCAGACAGTGCGGGGCCTGGC	0.587													T	50346470	C	T	50346470	3	4	499	1	0	0	0	0	1	0	0	0	1203	768	27	1	3135	1	ATP9A	20	50346470	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08	5542870	50346470	12679050	30	45621											
PRDM15	63977	broad.mit.edu	37	chr21	43274913	43274913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagcacacggggtgcccGtccttctggaacacctgaag	9	7	12	13	3	1	1	0	1	1	0	3	3	2	2	3	3	3	1	3	3	3	1			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr21:43274913G>A	ENST00000422911.1	-	5	512	c.411C>T	c.(409-411)gaC>gaT	p.D137D	PRDM15_ENST00000538201.1_Silent_p.D100D|PRDM15_ENST00000398548.1_Silent_p.D137D|PRDM15_ENST00000447207.2_Silent_p.D100D|PRDM15_ENST00000269844.3_Silent_p.D466D	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	466					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CGGGGTGCCCGTCCTTCTGGA	0.622													A	43274913	G	A	43274913	2	1	499	1	0	0	0	0	0	0	0	1	12542	1136	40	1		1	PRDM15	21	43274913	Silent	SNP	G	TCGA-FG-A60L-01A-12D-A31L-08		43274913	4854982	31	45622											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51041583	51041583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgctccccgatttcccttctCctagcacctgggcccctggg	3	11	9	18	1	1	0	0	0	1	0	4	1	3	0	7	2	2	2	7	2	1	3			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chr22:51041583C>T	ENST00000008876.5	+	1	22	c.22C>T	c.(22-24)Cct>Tct	p.P8S	MAPK8IP2_ENST00000399908.2_5'UTR|MAPK8IP2_ENST00000329492.3_Intron|MAPK8IP2_ENST00000442429.2_Intron|MAPK8IP2_ENST00000399912.1_Intron|MAPK8IP2_ENST00000341339.4_Intron			Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	422					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TTTCCCTTCTCCTAGCACCTG	0.617													T	51041583	C	T	51041583	3	4	499	1	0	0	0	0	1	0	0	0	9360	855	30	2	203	2	MAPK8IP2	22	51041583	Missense_Mutation	SNP	C	TCGA-FG-A60L-01A-12D-A31L-08		51041583	262983	32	45623											
DKC1	1736	broad.mit.edu	37	chrX	153994501	153994501	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattccaggacaggtttcAttaatcttgacaagccctct	10	13	6	12	0	3	1	1	1	2	0	5	2	5	2	3	2	1	1	3	2	2	4			TCGA-FG-A60L-01A-12D-A31L-08	TCGA-FG-A60L-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b315c7cc-b490-4aa8-93fa-d1e4c22ee6d6	ef593f3e-ebd2-4723-83fa-f98618aa0194	g.chrX:153994501A>C	ENST00000369550.5	+	5	484	c.274A>C	c.(274-276)Att>Ctt	p.I92L		NM_001142463.1|NM_001363.3	NP_001135935.1|NP_001354.1	O60832	DKC1_HUMAN	dyskeratosis congenita 1, dyskerin	92					cell proliferation|pseudouridine synthesis|rRNA processing|telomere maintenance via telomerase	Cajal body|nucleolus|telomerase holoenzyme complex	protein binding|pseudouridine synthase activity|RNA binding|telomerase activity			breast(2)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)	15	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACAGGTTTCATTAATCTTGA	0.413									Congenital Dyskeratosis				C	153994501	A	C	153994501	3	2	499	1	0	0	0	0	1	0	0	0	4581	217	8	5	292	5	DKC1	23	153994501	Missense_Mutation	SNP	A	TCGA-FG-A60L-01A-12D-A31L-08		153994501	1276059	33	45624											
AADACL3	126767	broad.mit.edu	37	chr1	12785441	12785441	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggatttacaaaccccttcGtttcaacagaggaaaaacat	15	10	6	10	1	1	1	1	0	0	1	2	3	1	3	2	2	4	1	2	2	5	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:12785441G>A	ENST00000332530.3	+	3	547	c.321G>A	c.(319-321)tcG>tcA	p.S107S	AADACL3_ENST00000359318.5_Silent_p.S177S	NM_001103169.1	NP_001096639.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	177							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		AAACCCCTTCGTTTCAACAGA	0.488													A	12785441	G	A	12785441	2	1	500	1	0	0	0	0	0	0	0	1	12	1132	40	1		1	AADACL3	1	12785441	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		12785441	236465180	1	45625											
ST3GAL3	6487	broad.mit.edu	37	chr1	44364853	44364853	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcctccgctgccgcCgctgcatcatcgtgggcaat	5	8	10	18	4	2	0	2	0	0	0	4	0	3	0	5	1	3	4	5	1	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:44364853C>T	ENST00000262915.3	+	9	859	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R197C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R159C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R228C|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R143C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R128C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R128C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R143C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R143C|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R197C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R213C|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R159C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R158C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R174C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R159C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	159					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CCGCTGCCGCCGCTGCATCAT	0.597													T	44364853	C	T	44364853	3	4	500	1	0	0	0	0	1	0	0	0	15312	652	23	1	712	1	ST3GAL3	1	44364853	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	31579412	44364853	204885768	2	45626											
PAPPA2	60676	broad.mit.edu	37	chr1	176525560	176525560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacacgcaagaaatccttGgttgagagggaacacctgaa	14	7	12	8	1	0	3	0	2	0	2	1	6	1	5	2	3	1	2	2	3	4	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr1:176525560G>A	ENST00000367662.3	+	2	1266	c.102G>A	c.(100-102)ttG>ttA	p.L34L	PAPPA2_ENST00000367661.3_Silent_p.L34L	NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	34					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						AGAAATCCTTGGTTGAGAGGG	0.527													A	176525560	G	A	176525560	2	1	500	1	0	0	0	0	0	0	0	1	11509	1339	47	2		2	PAPPA2	1	176525560	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	132160707	176525560	72725061	3	45627											
HADHA	3030	broad.mit.edu	37	chr2	26435460	26435460	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagattcacagagataaccGgcatcactcccttgctcaat	12	10	7	12	1	3	2	3	1	0	2	4	4	4	2	2	1	2	2	2	1	2	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:26435460G>A	ENST00000380649.3	-	10	1083	c.954C>T	c.(952-954)gcC>gcT	p.A318A	HADHA_ENST00000457468.2_Silent_p.A231A	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	318					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	AGAGATAACCGGCATCACTCC	0.358													A	26435460	G	A	26435460	2	1	500	1	0	0	0	0	0	0	0	1	6998	1103	39	1		1	HADHA	2	26435460	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		26435460	216763913	4	45628											
XDH	7498	broad.mit.edu	37	chr2	31571808	31571808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agcttattccaaacttggtgGgaattatgcacaatcctctc	11	13	7	10	0	1	0	0	0	1	0	4	1	3	1	2	2	3	2	2	2	5	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:31571808G>A	ENST00000379416.3	-	27	3056	c.3008C>T	c.(3007-3009)cCc>cTc	p.P1003L		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	1003					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	AAACTTGGTGGGAATTATGCA	0.383													A	31571808	G	A	31571808	3	1	500	1	0	0	0	0	1	0	0	0	17528	1232	43	2	1033	2	XDH	2	31571808	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	5136348	31571808	211627565	5	45629											
AFTPH	54812	broad.mit.edu	37	chr2	64796313	64796313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcggctcccatagcaacaaGaagcttttgtcctccttggg	8	10	11	12	1	0	1	0	0	0	1	3	1	3	1	3	3	3	3	3	3	4	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:64796313G>A	ENST00000422803.1	+	4	2489	c.2175G>A	c.(2173-2175)aaG>aaA	p.K725K	AFTPH_ENST00000238855.7_Silent_p.K725K|AFTPH_ENST00000409183.1_Silent_p.K356K|AFTPH_ENST00000409933.1_Silent_p.K725K|AFTPH_ENST00000238856.4_Silent_p.K725K|AFTPH_ENST00000487769.1_Intron			Q6ULP2	AFTIN_HUMAN	aftiphilin	725					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						ATAGCAACAAGAAGCTTTTGT	0.433													A	64796313	G	A	64796313	2	1	500	1	0	0	0	0	0	0	0	1	364	933	33	2		2	AFTPH	2	64796313	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	33224505	64796313	178403060	6	45630											
EGR4	1961	broad.mit.edu	37	chr2	73519641	73519641	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggacccggcagcaaggcAtcggaccccgcaggaaaagg	11	1	16	13	4	0	0	0	0	0	0	1	3	0	3	3	7	1	4	3	7	3	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:73519641A>G	ENST00000436467.2	-	2	792	c.405T>C	c.(403-405)gaT>gaC	p.D135D	EGR4_ENST00000545030.1_Silent_p.D238D			B7ZKU3	B7ZKU3_HUMAN	early growth response 4	134						intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						GCAGCAAGGCATCGGACCCCG	0.682													G	73519641	A	G	73519641	2	3	500	1	0	0	0	0	0	0	0	1	5013	214	8	3		3	EGR4	2	73519641	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	8723328	73519641	169679732	7	45631											
R3HDM1	23518	broad.mit.edu	37	chr2	136467655	136467655	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caccaccgccacctggtgggGggatggtgatgatgcagctc	7	7	15	12	1	0	2	0	2	0	0	1	3	0	3	4	5	2	2	4	5	0	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:136467655G>A	ENST00000264160.4	+	22	2855	c.2485G>A	c.(2485-2487)Ggg>Agg	p.G829R	R3HDM1_ENST00000329971.3_Missense_Mutation_p.G700R|R3HDM1_ENST00000409606.1_Missense_Mutation_p.G830R|R3HDM1_ENST00000410054.1_Missense_Mutation_p.G774R|R3HDM1_ENST00000409478.1_Missense_Mutation_p.G701R	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	829							nucleic acid binding	p.G829R(1)		breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		ACCTGGTGGGGGGATGGTGAT	0.453											OREG0014997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	136467655	G	A	136467655	3	1	500	1	0	0	0	0	1	0	0	0	12975	1232	43	2	2563	2	R3HDM1	2	136467655	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	62948014	136467655	106731718	8	45632											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	500	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	72645457	209113112	34086261	9	45633											
IRS1	3667	broad.mit.edu	37	chr2	227663384	227663384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagaagcgtttgtgcatgCtcttgggtttgcgcaggtag	7	12	15	7	3	1	1	0	0	1	1	1	2	1	1	0	2	4	6	0	2	3	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:227663384C>T	ENST00000305123.5	-	1	1091	c.71G>A	c.(70-72)aGc>aAc	p.S24N		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Mediates interaction with PHIP (By similarity).|PH.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TTTGTGCATGCTCTTGGGTTT	0.657													T	227663384	C	T	227663384	3	4	500	1	0	0	0	0	1	0	0	0	7898	797	28	2	3661	2	IRS1	2	227663384	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	18550272	227663384	15535989	10	45634											
COL6A3	1293	broad.mit.edu	37	chr2	238287314	238287314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttcctccacacctccaCtaacatatgtggttaggggc	9	11	8	13	0	0	0	0	0	0	0	3	0	3	0	4	3	2	2	4	3	4	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr2:238287314C>T	ENST00000295550.4	-	6	2914	c.2462G>A	c.(2461-2463)aGt>aAt	p.S821N	COL6A3_ENST00000392003.2_Missense_Mutation_p.S414N|COL6A3_ENST00000392004.3_Missense_Mutation_p.S615N|COL6A3_ENST00000353578.4_Missense_Mutation_p.S615N|COL6A3_ENST00000472056.1_Intron|COL6A3_ENST00000347401.3_Missense_Mutation_p.S620N|COL6A3_ENST00000409809.1_Missense_Mutation_p.S615N|COL6A3_ENST00000346358.4_Intron	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	821	Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CACACCTCCACTAACATATGT	0.537													T	238287314	C	T	238287314	3	4	500	1	0	0	0	0	1	0	0	0	3732	565	20	2	7274	2	COL6A3	2	238287314	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	10623930	238287314	4912059	11	45635											
CNTN6	27255	broad.mit.edu	37	chr3	1427358	1427358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattagagtcagtggaaatGtcacaaccaaaaacatcacg	19	7	7	8	1	3	1	3	0	0	1	3	2	3	2	1	1	2	0	1	1	6	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:1427358G>A	ENST00000446702.2	+	20	3208	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	CNTN6_ENST00000539053.1_Missense_Mutation_p.V789I|CNTN6_ENST00000350110.2_Missense_Mutation_p.V861I			Q9UQ52	CNTN6_HUMAN	contactin 6	861	Fibronectin type-III 3.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		CAGTGGAAATGTCACAACCAA	0.418													A	1427358	G	A	1427358	3	1	500	1	0	0	0	0	1	0	0	0	3676	1377	48	2	2655	2	CNTN6	3	1427358	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		1427358	196595072	12	45636											
TRIM71	131405	broad.mit.edu	37	chr3	32932723	32932723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgacaaggacaatcatcGcatccagatcttcacgttcg	11	9	9	12	3	3	2	2	1	1	1	6	3	4	3	1	2	0	3	1	2	2	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:32932723G>A	ENST00000383763.5	+	4	2090	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H		NM_001039111.1	NP_001034200.1	Q2Q1W2	LIN41_HUMAN	tripartite motif containing 71, E3 ubiquitin protein ligase						multicellular organismal development	cytoplasm	zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GACAATCATCGCATCCAGATC	0.592													A	32932723	G	A	32932723	3	1	500	1	0	0	0	0	1	0	0	0	16645	1087	38	1	2041	1	TRIM71	3	32932723	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	31505365	32932723	165089707	13	45637											
ARHGEF3	50650	broad.mit.edu	37	chr3	56771305	56771305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcttccaagtaaagaaGccgctctttataatagcggc	11	11	8	11	2	2	1	0	0	2	1	3	1	3	1	3	1	2	2	3	1	7	7			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:56771305G>A	ENST00000413728.2	-	8	1510	c.967C>T	c.(967-969)Ctt>Ttt	p.L323F	ARHGEF3_ENST00000296315.3_Missense_Mutation_p.L317F|ARHGEF3_ENST00000497267.1_Missense_Mutation_p.L288F|ARHGEF3_ENST00000496106.1_Missense_Mutation_p.L323F|ARHGEF3_ENST00000495373.1_Missense_Mutation_p.L317F|ARHGEF3_ENST00000338458.4_Missense_Mutation_p.L349F	NM_001128616.1	NP_001122088.1	Q9NR81	ARHG3_HUMAN	Rho guanine nucleotide exchange factor (GEF) 3	317	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|Rho protein signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	25				KIRC - Kidney renal clear cell carcinoma(284;0.0161)|Kidney(284;0.019)|OV - Ovarian serous cystadenocarcinoma(275;0.193)		AAGTAAAGAAGCCGCTCTTTA	0.428													A	56771305	G	A	56771305	3	1	500	1	0	0	0	0	1	0	0	0	907	971	34	2	643	2	ARHGEF3	3	56771305	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	23838582	56771305	141251125	14	45638											
CNTN3	5067	broad.mit.edu	37	chr3	74347288	74347288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtaaccccaagagggcGgaaagcaacaacatacccaa	16	3	11	11	1	0	1	0	0	0	1	0	2	0	2	3	4	5	2	3	4	7	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:74347288G>A	ENST00000263665.6	-	17	2248	c.2221C>T	c.(2221-2223)Cgc>Tgc	p.R741C		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	741	Fibronectin type-III 2.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		CCAAGAGGGCGGAAAGCAACA	0.463													A	74347288	G	A	74347288	3	1	500	1	0	0	0	0	1	0	0	0	3673	1116	39	1	889	1	CNTN3	3	74347288	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	17575983	74347288	123675142	15	45639											
PLCXD2	257068	broad.mit.edu	37	chr3	111427010	111427010	+	Frame_Shift_Del	DEL	T	T	-																															gatctacttcatccatgggcTttttggcatcaaggtctggg																										TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:111427010delT	ENST00000393934.3	+	2	971	c.401delT	c.(400-402)cttfs	p.L134fs	PLCXD2_ENST00000477665.1_Frame_Shift_Del_p.L134fs	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	134	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						ATCCATGGGCTTTTTGGCATC	0.502													-	111427010	T	-	111427010	7	5	500	1	0	1	0	1	0	0	0	0	12119	1609	56	0	407	0	PLCXD2	3	111427010	Frame_Shift_Del	DEL	T	TCGA-FG-A6IZ-01A-11D-A31L-08	37079722	111427010	86595420	16	45640											
PRR23A	729627	broad.mit.edu	37	chr3	138724681	138724681	+	Frame_Shift_Del	DEL	C	C	-																															ggcgatctctgggacagatgCgcagaagacttcctgctcaa																										TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:138724681delC	ENST00000383163.2	-	1	429	c.430delG	c.(430-432)gcafs	p.A144fs	MRPS22_ENST00000495075.1_5'UTR	NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	144										endometrium(3)|kidney(1)|lung(7)	11						GGGACAGATGCGCAGAAGACT	0.652													-	138724681	C	-	138724681	7	5	500	1	0	1	0	1	0	0	0	0	12680	768	27	0	374	0	PRR23A	3	138724681	Frame_Shift_Del	DEL	C	TCGA-FG-A6IZ-01A-11D-A31L-08	27297671	138724681	59297749	17	45641											
AADACL2	344752	broad.mit.edu	37	chr3	151475327	151475327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcaccattttatttacGtctaggtcttaggataagag	11	15	8	7	1	3	1	1	0	2	1	3	3	3	2	1	2	1	0	1	2	5	8			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:151475327G>A	ENST00000356517.3	+	5	1260	c.1151G>A	c.(1150-1152)cGt>cAt	p.R384H	RP11-454C18.2_ENST00000475855.1_RNA|RP11-454C18.2_ENST00000483843.2_RNA	NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	384						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTTTATTTACGTCTAGGTCTT	0.333													A	151475327	G	A	151475327	3	1	500	1	0	0	0	0	1	0	0	0	11	1145	40	1	1169	1	AADACL2	3	151475327	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	12750646	151475327	46547103	18	45642											
GPR149	344758	broad.mit.edu	37	chr3	154056037	154056037	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaatgcacacaagggAatggcaagggcataaccgga	14	4	13	10	1	0	0	0	0	0	0	0	3	0	3	2	5	2	3	2	5	5	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:154056037A>G	ENST00000389740.2	-	4	1746	c.1647T>C	c.(1645-1647)atT>atC	p.I549I		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	549						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CACACAAGGGAATGGCAAGGG	0.428													G	154056037	A	G	154056037	2	3	500	1	0	0	0	0	0	0	0	1	6708	242	9	3		3	GPR149	3	154056037	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2580710	154056037	43966393	19	45643											
YEATS2	55689	broad.mit.edu	37	chr3	183495362	183495362	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttggccagccatcaccccaGacttctggaaaacaactcac	12	7	7	15	0	3	1	2	0	1	1	3	2	3	2	4	2	3	1	4	2	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr3:183495362G>A	ENST00000305135.5	+	19	2805	c.2610G>A	c.(2608-2610)caG>caA	p.Q870Q		NM_018023.4	NP_060493.3	Q9ULM3	YETS2_HUMAN	YEATS domain containing 2	870					histone H3 acetylation|negative regulation of transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex	TBP-class protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(24)|ovary(3)|prostate(2)|skin(3)	49	all_cancers(143;6.55e-10)|Ovarian(172;0.0303)		all cancers(12;2.38e-42)|Epithelial(37;1.9e-36)|OV - Ovarian serous cystadenocarcinoma(80;6.48e-22)			CATCACCCCAGACTTCTGGAA	0.433													A	183495362	G	A	183495362	2	1	500	1	0	0	0	0	0	0	0	1	17574	933	33	2		2	YEATS2	3	183495362	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	29439325	183495362	14527068	20	45644											
TECRL	253017	broad.mit.edu	37	chr4	65274899	65274899	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcaatctcaaagtgagtCgtttttgaatgtttgactgc	10	17	8	6	1	2	3	2	3	1	0	4	3	2	3	0	0	1	2	0	0	3	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr4:65274899C>T	ENST00000381210.3	-	1	281	c.171G>A	c.(169-171)acG>acA	p.T57T	TECRL_ENST00000507440.1_Silent_p.T57T	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	57					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CAAAGTGAGTCGTTTTTGAAT	0.328													T	65274899	C	T	65274899	2	4	500	1	0	0	0	0	0	0	0	1	15846	871	31	1		1	TECRL	4	65274899	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		65274899	125879377	21	45645											
POU4F3	5459	broad.mit.edu	37	chr5	145719841	145719841	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcacgtccatcgcggcgcCggagaagcgttcactcgagg	8	5	14	14	8	1	1	1	0	0	1	4	3	2	1	2	3	1	2	2	3	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr5:145719841C>T	ENST00000230732.4	+	2	940	c.851C>T	c.(850-852)cCg>cTg	p.P284L	CTC-359M8.1_ENST00000515598.1_RNA	NM_002700.2	NP_002691.1	Q15319	PO4F3_HUMAN	POU class 4 homeobox 3	284					sensory perception of sound|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATCGCGGCGCCGGAGAAGCGT	0.582													T	145719841	C	T	145719841	3	4	500	1	0	0	0	0	1	0	0	0	12357	652	23	1	857	1	POU4F3	5	145719841	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		145719841	35195419	22	45646											
SOX4	6659	broad.mit.edu	37	chr6	21594934	21594934	+	Frame_Shift_Del	DEL	G	G	-																															gctggtgcaagaccccgagtGggcacatcaagcgacccatg																										TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21594934delG	ENST00000244745.1	+	1	963	c.169delG	c.(169-171)gggfs	p.G57fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.G57fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	57					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GACCCCGAGTGGGCACATCAA	0.677													-	21594934	G	-	21594934	7	5	500	1	0	1	0	1	0	0	0	0	15047	1348	47	0	171	0	SOX4	6	21594934	Frame_Shift_Del	DEL	G	TCGA-FG-A6IZ-01A-11D-A31L-08		21594934	149520133	23	45647											
SOX4	6659	broad.mit.edu	37	chr6	21595117	21595117	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcggagcggctgcgcctcAagcacatggctgactacccc	8	5	13	15	3	1	1	1	1	0	0	1	2	1	2	3	4	4	3	3	4	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:21595117A>G	ENST00000244745.1	+	1	1146	c.352A>G	c.(352-354)Aag>Gag	p.K118E	SOX4_ENST00000543472.1_Missense_Mutation_p.K118E	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	118					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			GCTGCGCCTCAAGCACATGGC	0.622													G	21595117	A	G	21595117	3	3	500	1	0	0	0	0	1	0	0	0	15047	131	5	3	354	3	SOX4	6	21595117	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	183	21595117	149519950	24	45648											
CDKN1A	1026	broad.mit.edu	37	chr6	36653546	36653546	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttctaccactccaaacGccggctgatcttctccaaga	11	10	6	14	2	3	3	0	1	3	2	5	3	4	3	4	1	2	1	4	1	3	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:36653546G>A	ENST00000405375.1	+	3	699	c.464G>A	c.(463-465)cGc>cAc	p.R155H	CDKN1A_ENST00000244741.5_Missense_Mutation_p.R155H|CDKN1A_ENST00000373711.2_Missense_Mutation_p.R155H|CDKN1A_ENST00000448526.2_Missense_Mutation_p.R189H	NM_001220778.1	NP_001207707.1	P38936	CDN1A_HUMAN	cyclin-dependent kinase inhibitor 1A (p21, Cip1)	155					cell cycle arrest|cellular response to extracellular stimulus|cellular response to ionizing radiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|induction of apoptosis by intracellular signals|negative regulation of cell growth|negative regulation of cell proliferation|positive regulation of fibroblast proliferation|positive regulation of reactive oxygen species metabolic process|Ras protein signal transduction|S phase of mitotic cell cycle|stress-induced premature senescence	cyclin-dependent protein kinase holoenzyme complex|cytosol|nucleoplasm|PCNA-p21 complex	cyclin-dependent protein kinase activating kinase activity|cyclin-dependent protein kinase inhibitor activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|urinary_tract(5)	15						CACTCCAAACGCCGGCTGATC	0.597													A	36653546	G	A	36653546	3	1	500	1	0	0	0	0	1	0	0	0	3188	1087	38	1	470	1	CDKN1A	6	36653546	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	15058429	36653546	134461521	25	45649											
DNAH8	1769	broad.mit.edu	37	chr6	38773314	38773314	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagggtgaaaacaatgactAtgaagctaatattgtgaatg	17	10	11	3	0	0	5	0	4	0	1	0	5	0	5	0	1	2	1	0	1	8	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:38773314A>G	ENST00000359357.3	+	21	2695	c.2441A>G	c.(2440-2442)tAt>tGt	p.Y814C	DNAH8_ENST00000449981.2_Missense_Mutation_p.Y1031C|DNAH8_ENST00000441566.1_Missense_Mutation_p.Y814C					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AACAATGACTATGAAGCTAAT	0.303													G	38773314	A	G	38773314	3	3	500	1	0	0	0	0	1	0	0	0	4646	449	16	3	2515	3	DNAH8	6	38773314	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2119768	38773314	132341753	26	45650											
COL9A1	1297	broad.mit.edu	37	chr6	70993483	70993483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaagtttctctcctgggcCgcagggggtcacaatggatc	7	9	14	11	1	2	0	1	0	1	0	5	1	3	1	2	5	0	3	2	5	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:70993483C>T	ENST00000357250.6	-	6	895	c.737G>A	c.(736-738)cGg>cAg	p.R246Q	COL9A1_ENST00000370496.3_Missense_Mutation_p.R246Q	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	246	Nonhelical region (NC4).				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding	p.R246Q(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						TCTCCTGGGCCGCAGGGGGTC	0.517													T	70993483	C	T	70993483	3	4	500	1	0	0	0	0	1	0	0	0	3738	652	23	1	2236	1	COL9A1	6	70993483	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	32220169	70993483	100121584	27	45651											
COL12A1	1303	broad.mit.edu	37	chr6	75893744	75893744	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctgtcggcttcctgcagTcattggtgtgaggatgactt	5	14	14	8	1	1	2	1	2	0	0	3	3	2	3	1	3	2	3	1	3	0	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:75893744T>C	ENST00000322507.8	-	9	1423	c.1114A>G	c.(1114-1116)Act>Gct	p.T372A	COL12A1_ENST00000483888.2_Missense_Mutation_p.T372A|COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_Missense_Mutation_p.T372A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	372	Fibronectin type-III 2.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						CTTCCTGCAGTCATTGGTGTG	0.478													C	75893744	T	C	75893744	3	2	500	1	0	0	0	0	1	0	0	0	3700	1667	58	3	8309	3	COL12A1	6	75893744	Missense_Mutation	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	4900261	75893744	95221323	28	45652											
TAGAP	117289	broad.mit.edu	37	chr6	159456923	159456923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccggctggctacatcgtCgcacgagacagtcccgctta	9	7	11	14	5	0	2	0	0	0	2	3	3	1	2	2	2	1	4	2	2	2	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr6:159456923C>T	ENST00000367066.3	-	10	2463	c.2132G>A	c.(2131-2133)cGa>cAa	p.R711Q	RP1-111C20.4_ENST00000606470.1_RNA|RP1-111C20.4_ENST00000607391.1_RNA|RP1-111C20.4_ENST00000606466.1_RNA|TAGAP_ENST00000326965.6_Missense_Mutation_p.R533Q|RP1-111C20.4_ENST00000607796.1_RNA	NM_001278733.1|NM_054114.3	NP_001265662.1|NP_473455.2	Q8N103	TAGAP_HUMAN	T-cell activation RhoGTPase activating protein	711					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|guanyl-nucleotide exchange factor activity			NS(1)|autonomic_ganglia(1)|endometrium(3)|large_intestine(8)|lung(7)|ovary(2)|skin(1)	23		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-16)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		GCTACATCGTCGCACGAGACA	0.567													T	159456923	C	T	159456923	3	4	500	1	0	0	0	0	1	0	0	0	15634	884	31	1	67	1	TAGAP	6	159456923	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	83563179	159456923	11658144	29	45653											
POU6F2	11281	broad.mit.edu	37	chr7	39125630	39125630	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacactcccagcaagctcttCggtaagtctgtctaggtatt	9	12	9	11	1	3	0	0	0	3	0	5	1	4	0	1	2	2	4	1	2	4	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:39125630C>T	ENST00000518318.2	+	2	231	c.189C>T	c.(187-189)ttC>ttT	p.F63F	POU6F2_ENST00000559001.1_Splice_Site_p.F55F|POU6F2_ENST00000517348.1_3'UTR|POU6F2_ENST00000464276.2_Splice_Site_p.F55F|POU6F2_ENST00000403058.1_Splice_Site_p.F63F			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	63					central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.F63F(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						GCAAGCTCTTCGGTAAGTCTG	0.507													T	39125630	C	T	39125630	5	4	500	1	0	0	0	0	0	0	1	0	12362	898	31	1	195	1	POU6F2	7	39125630	Splice_Site	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		39125630	120013033	30	45654											
KCTD7	154881	broad.mit.edu	37	chr7	66104145	66104145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggaccaccagtgcatcgggGtgtgtgacaagcacctcgtg	8	8	14	11	2	0	1	0	1	0	0	2	2	0	2	3	3	2	2	3	3	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:66104145G>A	ENST00000275532.3	+	4	980	c.796G>A	c.(796-798)Gtg>Atg	p.V266M	KCTD7_ENST00000443322.1_Missense_Mutation_p.V266M	NM_001167961.2|NM_153033.4	NP_001161433.1|NP_694578.1	Q96MP8	KCTD7_HUMAN	potassium channel tetramerization domain containing 7	266						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|urinary_tract(1)	16						GTGCATCGGGGTGTGTGACAA	0.597													A	66104145	G	A	66104145	3	1	500	1	0	0	0	0	1	0	0	0	8172	1261	44	2	810	2	KCTD7	7	66104145	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	26978515	66104145	93034518	31	45655											
GNAT3	346562	broad.mit.edu	37	chr7	80108203	80108203	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagatgccctttcaaagcAggcctgaattcctggatctc	9	12	8	12	0	3	2	2	1	1	1	5	3	4	3	3	2	2	1	3	2	2	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:80108203A>G	ENST00000398291.3	-	4	508	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	139					detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CTTTCAAAGCAGGCCTGAATT	0.413													G	80108203	A	G	80108203	3	3	500	1	0	0	0	0	1	0	0	0	6569	188	7	3	667	3	GNAT3	7	80108203	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	14004058	80108203	79030460	32	45656											
UBE3C	9690	broad.mit.edu	37	chr7	157000121	157000121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accgttgcttcaggtgatatCcaggggttctcctatgtctt	6	15	10	10	1	3	1	1	1	2	0	5	1	4	1	3	3	1	3	3	3	2	6			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr7:157000121C>T	ENST00000348165.5	+	12	1808	c.1448C>T	c.(1447-1449)tCc>tTc	p.S483F		NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	483					protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CAGGTGATATCCAGGGGTTCT	0.338													T	157000121	C	T	157000121	3	4	500	1	0	0	0	0	1	0	0	0	16983	855	30	2	1494	2	UBE3C	7	157000121	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	76891918	157000121	2138542	33	45657											
IKBKB	3551	broad.mit.edu	37	chr8	42147675	42147675	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttttcctcctcctaggCtgacccaccccaatgtggtg	5	12	9	15	1	0	1	0	1	0	0	4	1	3	1	6	3	0	2	6	3	2	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:42147675C>T	ENST00000520810.1	+	4	388	c.202C>T	c.(202-204)Ctg>Ttg	p.L68L	IKBKB_ENST00000379708.3_Intron|IKBKB_ENST00000519735.1_Splice_Site_p.L68L|IKBKB_ENST00000522147.1_Intron|IKBKB_ENST00000520835.1_Splice_Site_p.L66L|IKBKB_ENST00000416505.2_Splice_Site_p.L9L	NM_001556.2	NP_001547.1	O14920	IKKB_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase beta	68	Protein kinase.				anti-apoptosis|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|T cell receptor signaling pathway|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	CD40 receptor complex|cytosol|internal side of plasma membrane|membrane raft	ATP binding|identical protein binding|IkappaB kinase activity			breast(4)|lung(1)|ovary(2)|skin(1)	8	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;6.21e-12)|Lung NSC(13;1.04e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.0468)|Lung SC(25;0.211)	all_lung(54;0.000434)|Lung NSC(58;0.00161)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.0954)	BRCA - Breast invasive adenocarcinoma(8;1.37e-10)|Colorectal(10;0.00102)|OV - Ovarian serous cystadenocarcinoma(14;0.00168)|Lung(22;0.00467)|LUSC - Lung squamous cell carcinoma(45;0.024)|COAD - Colon adenocarcinoma(11;0.0264)		Arsenic trioxide(DB01169)|Auranofin(DB00995)	TCCTCCTAGGCTGACCCACCC	0.627													T	42147675	C	T	42147675	5	4	500	1	0	0	0	0	0	0	1	0	7669	811	28	2	212	2	IKBKB	8	42147675	Splice_Site	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		42147675	104216347	34	45658											
PLEC	5339	broad.mit.edu	37	chr8	144991031	144991031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctggggtcgatgatgcCcccggtgcaggcctgcgcct	3	8	17	13	3	0	1	0	1	0	0	1	2	0	1	4	5	4	2	4	5	0	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr8:144991031C>T	ENST00000322810.4	-	32	13538	c.13369G>A	c.(13369-13371)Ggc>Agc	p.G4457S	PLEC_ENST00000354589.3_Missense_Mutation_p.G4320S|PLEC_ENST00000398774.2_Missense_Mutation_p.G4288S|PLEC_ENST00000436759.2_Missense_Mutation_p.G4347S|PLEC_ENST00000527096.1_Missense_Mutation_p.G4343S|PLEC_ENST00000345136.3_Missense_Mutation_p.G4320S|PLEC_ENST00000357649.2_Missense_Mutation_p.G4324S|PLEC_ENST00000354958.2_Missense_Mutation_p.G4298S|PLEC_ENST00000356346.3_Missense_Mutation_p.G4306S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4457	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCGATGATGCCCCCGGTGCAG	0.652													T	144991031	C	T	144991031	3	4	500	1	0	0	0	0	1	0	0	0	12129	623	22	2	689	2	PLEC	8	144991031	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	102843356	144991031	1372991	35	45659											
FREM1	158326	broad.mit.edu	37	chr9	14842610	14842610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcatcatgatgatagcgaAcaactccagcctggaggtca	12	9	10	10	1	3	2	3	2	0	0	4	4	4	3	2	2	4	0	2	2	3	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:14842610A>G	ENST00000380881.4	-	10	2260	c.1445T>C	c.(1444-1446)gTt>gCt	p.V482A	FREM1_ENST00000380880.3_Missense_Mutation_p.V481A|FREM1_ENST00000422223.2_Missense_Mutation_p.V481A			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	481					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		ATGATAGCGAACAACTCCAGC	0.532													G	14842610	A	G	14842610	3	3	500	1	0	0	0	0	1	0	0	0	6096	43	2	3	5263	3	FREM1	9	14842610	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08		14842610	126370821	36	45660											
AQP3	360	broad.mit.edu	37	chr9	33442900	33442900	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtccagaggggtaggtagCaaagatgccggctgtgccat	9	8	16	8	1	0	2	0	0	0	2	1	2	1	2	3	4	3	4	3	4	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:33442900C>T	ENST00000297991.4	-	4	522	c.442G>A	c.(442-444)Gct>Act	p.A148T	AQP3_ENST00000493581.1_5'UTR	NM_004925.4	NP_004916.1	Q92482	AQP3_HUMAN	aquaporin 3 (Gill blood group)	148					excretion|odontogenesis|positive regulation of immune system process|regulation of keratinocyte differentiation|response to calcium ion|response to retinoic acid|response to vitamin D	basolateral plasma membrane|cell-cell junction|cytoplasm	glycerol channel activity|water channel activity			endometrium(2)|large_intestine(3)|lung(2)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.0899)		GGGTAGGTAGCAAAGATGCCG	0.562													T	33442900	C	T	33442900	3	4	500	1	0	0	0	0	1	0	0	0	830	710	25	2	448	2	AQP3	9	33442900	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	18600290	33442900	107770531	37	45661											
ADAMTS13	11093	broad.mit.edu	37	chr9	136320669	136320669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggcctgctcttctcccCggctccccagcctcggcggc	1	7	12	21	4	2	0	0	0	2	0	5	0	3	0	7	5	2	2	7	5	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:136320669C>T	ENST00000371929.3	+	25	3956	c.3512C>T	c.(3511-3513)cCg>cTg	p.P1171L	ADAMTS13_ENST00000485925.1_Intron|ADAMTS13_ENST00000356589.2_Intron|ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Intron	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	1171					cell-matrix adhesion|glycoprotein metabolic process|integrin-mediated signaling pathway|peptide catabolic process|platelet activation|protein processing|proteolysis	cell surface|proteinaceous extracellular matrix	calcium ion binding|integrin binding|metalloendopeptidase activity|zinc ion binding			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		CTCTTCTCCCCGGCTCCCCAG	0.687													T	136320669	C	T	136320669	3	4	500	1	0	0	0	0	1	0	0	0	258	652	23	1	3610	1	ADAMTS13	9	136320669	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	102877769	136320669	4892762	38	45662											
MAN1B1	11253	broad.mit.edu	37	chr9	140003035	140003035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accctctgcctatctggaccCctgcctagggtggatggctg	5	10	12	14	0	2	0	0	0	2	0	2	2	2	2	5	4	2	1	5	4	2	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr9:140003035C>T	ENST00000371589.4	+	13	2165	c.2092C>T	c.(2092-2094)Cct>Tct	p.P698S	MAN1B1_ENST00000474902.1_Missense_Mutation_p.P401S|MAN1B1_ENST00000540391.1_3'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	698					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TATCTGGACCCCTGCCTAGGG	0.597													T	140003035	C	T	140003035	3	4	500	1	0	0	0	0	1	0	0	0	9287	623	22	2	2142	2	MAN1B1	9	140003035	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	3682366	140003035	1210396	39	45663											
ITGA8	8516	broad.mit.edu	37	chr10	15561315	15561315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagctaaggttaaaatggCgagaaccaacaatccaagaa	20	6	8	7	1	0	2	0	0	0	2	1	3	1	2	2	2	3	2	2	2	10	3	rs150922478		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:15561315C>T	ENST00000378076.3	-	29	3432	c.3079G>A	c.(3079-3081)Gcc>Acc	p.A1027T		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	1027					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						GTTAAAATGGCGAGAACCAAC	0.373													T	15561315	C	T	15561315	3	4	500	1	0	0	0	0	1	0	0	0	7940	768	27	1	120	1	ITGA8	10	15561315	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		15561315	119973432	40	45664											
TYSND1	219743	broad.mit.edu	37	chr10	71899723	71899723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccaggggccgctgcaacCgccacaccaccctgactggc	7	4	11	19	2	0	1	0	1	0	0	0	1	0	1	6	3	3	2	6	3	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:71899723C>T	ENST00000287078.6	-	4	1657	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	TYSND1_ENST00000494143.1_5'UTR|TYSND1_ENST00000335494.5_3'UTR	NM_173555.2	NP_775826.2	Q2T9J0	TYSD1_HUMAN	trypsin domain containing 1	553					proteolysis	peroxisome	serine-type endopeptidase activity			endometrium(2)|large_intestine(2)|liver(1)|lung(3)|prostate(1)	9						CCGCTGCAACCGCCACACCAC	0.627													T	71899723	C	T	71899723	3	4	500	1	0	0	0	0	1	0	0	0	16919	652	23	1	46	1	TYSND1	10	71899723	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	56338408	71899723	63635024	41	45665											
GBF1	8729	broad.mit.edu	37	chr10	104122359	104122361	+	In_Frame_Del	DEL	AGA	AGA	-																															caacagcctcacccagcaagAgaagaaggagacagccagac																										TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr10:104122359_104122361delAGA	ENST00000369983.3	+	15	2071_2073	c.1811_1813delAGA	c.(1810-1815)gagaag>gag	p.K606del		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	606					COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		ACCCAGCAAGAGAAGAAGGAGAC	0.483													-	104122361	AGA	-	104122359	7	5	500	1	0	1	0	1	0	0	0	0	6325	304	11	0	1865	0	GBF1	10	104122359	In_Frame_Del	DEL	AGA	TCGA-FG-A6IZ-01A-11D-A31L-08	32222636	104122359	31412388	42	45666											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1643289	1643289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agccacagcccccacagccgGagccacagcctccagagcag	11	1	10	19	1	0	1	0	0	0	1	1	2	1	2	7	1	6	1	7	1	0	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:1643289G>A	ENST00000399682.1	-	1	79	c.35C>T	c.(34-36)tCc>tTc	p.S12F		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	12						keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		cccacagccggagccacagcc	0.682													A	1643289	G	A	1643289	3	1	500	1	0	0	0	0	1	0	0	0	8622	1174	41	2	655	2	KRTAP5-4	11	1643289	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		1643289	133363227	43	45667											
OR52K1	390036	broad.mit.edu	37	chr11	4510367	4510367	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggttctttcttctacaacGctgcccaaaatgcttgccat	8	15	6	12	1	3	0	0	0	3	0	3	0	3	0	2	1	5	3	2	1	4	6			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:4510367G>A	ENST00000307632.3	+	1	259	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_001005171.2	NP_001005171.2	Q8NGK4	O52K1_HUMAN	olfactory receptor, family 52, subfamily K, member 1	79					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(18)|skin(2)|stomach(1)	32		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;1.76e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0836)|LUSC - Lung squamous cell carcinoma(625;0.192)		CTTCTACAACGCTGCCCAAAA	0.483													A	4510367	G	A	4510367	2	1	500	1	0	0	0	0	0	0	0	1	11199	1074	38	1		1	OR52K1	11	4510367	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	2867078	4510367	130496149	44	45668											
ZNF215	7762	broad.mit.edu	37	chr11	6977625	6977625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtggaaaatccttcaacCggagctcctctcttattcga	10	12	7	12	2	2	0	1	0	1	0	6	3	4	2	3	2	2	1	3	2	4	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:6977625C>T	ENST00000278319.5	+	7	2005	c.1417C>T	c.(1417-1419)Cgg>Tgg	p.R473W	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.R473W	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	473					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ATCCTTCAACCGGAGCTCCTC	0.388													T	6977625	C	T	6977625	3	4	500	1	0	0	0	0	1	0	0	0	17872	643	23	1	1435	1	ZNF215	11	6977625	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	2467258	6977625	128028891	45	45669											
SPTY2D1	144108	broad.mit.edu	37	chr11	18636782	18636782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcctggaatggctaggatGggacagagattttttggctt	9	12	15	5	0	0	1	0	0	0	1	0	5	0	4	1	6	0	2	1	6	2	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:18636782G>A	ENST00000336349.5	-	3	1274	c.1039C>T	c.(1039-1041)Cat>Tat	p.H347Y		NM_194285.2	NP_919261.2	Q68D10	SPT2_HUMAN	SPT2, Suppressor of Ty, domain containing 1 (S. cerevisiae)	347	Ser-rich.									breast(4)|cervix(3)|endometrium(2)|kidney(3)|large_intestine(7)|lung(9)|skin(1)|stomach(1)	30						TGGCTAGGATGGGACAGAGAT	0.542													A	18636782	G	A	18636782	3	1	500	1	0	0	0	0	1	0	0	0	15222	1348	47	2	1034	2	SPTY2D1	11	18636782	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	11659157	18636782	116369734	46	45670											
OR6Q1	219952	broad.mit.edu	37	chr11	57798864	57798864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggggcacctgcatccGtctggcagctgcctgttggc	3	10	14	14	1	1	0	0	0	1	0	3	0	3	0	4	4	3	5	4	4	0	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:57798864G>A	ENST00000302622.3	+	1	463	c.440G>A	c.(439-441)cGt>cAt	p.R147H	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	147					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				ACCTGCATCCGTCTGGCAGCT	0.507													A	57798864	G	A	57798864	3	1	500	1	0	0	0	0	1	0	0	0	11284	1145	40	1	442	1	OR6Q1	11	57798864	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	39162082	57798864	77207652	47	45671											
ARAP1	116985	broad.mit.edu	37	chr11	72398486	72398486	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acactctgcacctggtacctGcacaaacagaaaggtagcga	14	6	9	12	1	1	1	0	0	1	1	1	2	1	1	2	2	5	4	2	2	4	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:72398486G>A	ENST00000359373.5	-	32	5001	c.4150C>T	c.(4150-4152)Cag>Tag	p.Q1384*	ARAP1_ENST00000393605.3_Nonsense_Mutation_p.Q1155*|ARAP1_ENST00000429686.1_Nonsense_Mutation_p.Q1078*|ARAP1_ENST00000495878.1_5'UTR|ARAP1-AS1_ENST00000542022.1_RNA|ARAP1_ENST00000393609.3_Nonsense_Mutation_p.Q1395*|ARAP1_ENST00000455638.2_Nonsense_Mutation_p.Q1384*|ARAP1_ENST00000334211.8_Nonsense_Mutation_p.Q1150*|ARAP1_ENST00000426523.1_Nonsense_Mutation_p.Q1139*			Q96P48	ARAP1_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 1	1395	PH 4.				actin filament reorganization involved in cell cycle|negative regulation of stress fiber assembly|positive regulation of Cdc42 GTPase activity|positive regulation of filopodium assembly|regulation of ARF GTPase activity|regulation of cell shape|regulation of cellular component movement|small GTPase mediated signal transduction	cytosol|Golgi cisterna membrane|plasma membrane	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|Rho GTPase activator activity|zinc ion binding			cervix(2)|endometrium(2)|large_intestine(10)|lung(8)|ovary(1)|skin(3)|urinary_tract(1)	27						CCTGGTACCTGCACAAACAGA	0.577													A	72398486	G	A	72398486	4	1	500	1	0	0	0	0	0	1	0	0	841	1328	46	2	181	2	ARAP1	11	72398486	Nonsense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	14599622	72398486	62608030	48	45672											
CUL5	8065	broad.mit.edu	37	chr11	107948957	107948957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaacttgaattacctttgAagcagaaggggtaagttttt	13	15	9	4	0	0	3	0	2	0	1	0	3	0	3	1	2	3	3	1	2	7	7			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:107948957A>G	ENST00000393094.2	+	11	1784	c.1168A>G	c.(1168-1170)Aag>Gag	p.K390E		NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	390					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTACCTTTGAAGCAGAAGGG	0.264													G	107948957	A	G	107948957	3	3	500	1	0	0	0	0	1	0	0	0	4092	247	9	3	1210	3	CUL5	11	107948957	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	35550471	107948957	27057559	49	45673											
CBL	867	broad.mit.edu	37	chr11	119103190	119103190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagaacccaaagctggcGctaaagaatagcccacctta	14	7	8	12	1	1	2	1	0	0	2	1	2	1	2	3	1	3	2	3	1	7	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr11:119103190G>A	ENST00000264033.4	+	2	604	c.228G>A	c.(226-228)gcG>gcA	p.A76A		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	76	4H.|Cbl-PTB.				epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CAAAGCTGGCGCTAAAGAATA	0.433			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				A	119103190	G	A	119103190	2	1	500	1	0	0	0	0	0	0	0	1	2726	1074	38	1		1	CBL	11	119103190	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	11154233	119103190	15903326	50	45674											
GRIN2B	2904	broad.mit.edu	37	chr12	13717461	13717461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttagccatgttcttggccGtgcgcagcaggcgcaggatg	6	9	16	10	3	1	0	0	0	1	0	1	1	1	1	2	4	3	5	2	4	1	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:13717461G>A	ENST00000609686.1	-	13	2920	c.2711C>T	c.(2710-2712)aCg>aTg	p.T904M		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTTCTTGGCCGTGCGCAGCAG	0.582													A	13717461	G	A	13717461	3	1	500	1	0	0	0	0	1	0	0	0	6835	1145	40	1	1747	1	GRIN2B	12	13717461	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		13717461	120134434	51	45675											
DNM1L	10059	broad.mit.edu	37	chr12	32861134	32861135	+	Frame_Shift_Del	DEL	AG	AG	-																															caagaaattgaaaatgaaacAgaaagaatttcaggaaataa																										TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:32861134_32861135delAG	ENST00000452533.2	+	4	509_510	c.345_346delAG	c.(343-348)acagaafs	p.E116fs	DNM1L_ENST00000358214.5_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000266481.6_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000381000.4_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000414834.2_Intron|DNM1L_ENST00000548671.1_3'UTR|DNM1L_ENST00000547312.1_Frame_Shift_Del_p.E116fs|DNM1L_ENST00000553257.1_Frame_Shift_Del_p.E129fs|DNM1L_ENST00000549701.1_Frame_Shift_Del_p.E116fs	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	116	GTPase domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					AAAATGAAACAGAAAGAATTTC	0.262													-	32861135	AG	-	32861134	7	5	500	1	0	1	0	1	0	0	0	0	4710	175	7	0	359	0	DNM1L	12	32861134	Frame_Shift_Del	DEL	AG	TCGA-FG-A6IZ-01A-11D-A31L-08	19143673	32861134	100990761	52	45676											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944870	43944870	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgtagccggcggccagaaAggatgcatcggcggtcaggt	8	6	18	9	4	1	1	1	0	0	1	2	2	1	2	2	7	2	2	2	7	2	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:43944870A>G	ENST00000389420.3	-	2	294	c.295T>C	c.(295-297)Ttt>Ctt	p.F99L	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.F99L	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	99						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GCGGCCAGAAAGGATGCATCG	0.672													G	43944870	A	G	43944870	3	3	500	1	0	0	0	0	1	0	0	0	266	72	3	3	5588	3	ADAMTS20	12	43944870	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	11083736	43944870	89907025	53	45677											
ARID2	196528	broad.mit.edu	37	chr12	46285864	46285864	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggacaagcaggaagtcAgaagtcttctaccaagtaag	16	6	10	9	0	3	1	1	0	2	1	3	3	3	3	2	2	2	2	2	2	6	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:46285864A>T	ENST00000334344.6	+	18	5304	c.5132A>T	c.(5131-5133)cAg>cTg	p.Q1711L	ARID2_ENST00000457135.1_Missense_Mutation_p.Q319L|ARID2_ENST00000422737.1_Missense_Mutation_p.Q1562L|ARID2_ENST00000444670.1_Missense_Mutation_p.Q1321L|ARID2_ENST00000479608.1_3'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1711					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		GCAGGAAGTCAGAAGTCTTCT	0.383			"N, S, F"		hepatocellular carcinoma								T	46285864	A	T	46285864	3	4	500	1	0	0	0	0	1	0	0	0	918	188	7	5	5202	5	ARID2	12	46285864	Missense_Mutation	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	2340994	46285864	87566031	54	45678											
C12orf74	338809	broad.mit.edu	37	chr12	93100524	93100524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtctcctccagtttgaccgGcaagccccaggccgcatctc	7	8	9	17	2	2	1	0	1	2	0	5	1	3	1	6	2	1	3	6	2	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr12:93100524G>A	ENST00000544406.2	+	2	383	c.117G>A	c.(115-117)cgG>cgA	p.R39R	C12orf74_ENST00000397833.3_Silent_p.R39R			Q32Q52	CL074_HUMAN	chromosome 12 open reading frame 74	39										kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(2)	10						AGTTTGACCGGCAAGCCCCAG	0.627													A	93100524	G	A	93100524	2	1	500	1	0	0	0	0	0	0	0	1	1727	1190	42	2		2	C12orf74	12	93100524	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	46814660	93100524	40751371	55	45679											
SPATA13	221178	broad.mit.edu	37	chr13	24823639	24823639	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgatggcccctggaggCgaagctcatcacaggatgag	9	7	13	12	1	2	2	2	2	0	0	3	5	3	4	3	4	1	1	3	4	1	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:24823639C>T	ENST00000424834.2	+	5	2151	c.1678C>T	c.(1678-1680)Cga>Tga	p.R560*	SPATA13_ENST00000382095.4_5'UTR|SPATA13_ENST00000474317.1_3'UTR|RP11-307N16.6_ENST00000382141.4_Intron|SPATA13_ENST00000382108.3_Nonsense_Mutation_p.R560*			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	218	PH.				cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CCCCTGGAGGCGAAGCTCATC	0.537													T	24823639	C	T	24823639	4	4	500	1	0	0	0	0	0	1	0	0	15096	760	27	1	1684	1	SPATA13	13	24823639	Nonsense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		24823639	90346239	56	45680											
SPG20	23111	broad.mit.edu	37	chr13	36888512	36888512	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctggattgccttaccAgtaatctcagcacctttgac	8	14	6	13	0	2	1	1	1	2	0	3	2	2	2	4	1	3	2	4	1	2	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:36888512A>G	ENST00000451493.1	-	6	1552	c.1335T>C	c.(1333-1335)acT>acC	p.T445T	SPG20_ENST00000355182.4_Silent_p.T445T|SPG20_ENST00000494062.2_Silent_p.T445T|SPG20_ENST00000438666.2_Silent_p.T445T	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	445					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		TTGCCTTACCAGTAATCTCAG	0.408													G	36888512	A	G	36888512	2	3	500	1	0	0	0	0	0	0	0	1	15138	175	7	3		3	SPG20	13	36888512	Silent	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08	12064873	36888512	78281366	57	45681											
TPP2	7174	broad.mit.edu	37	chr13	103282539	103282539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atatacttggtcttctagagGacctaggtaggtgcaggtag	10	12	13	6	0	2	1	0	0	2	1	2	2	2	2	1	5	2	3	1	5	6	8			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr13:103282539G>A	ENST00000376052.3	+	10	1254	c.1238G>A	c.(1237-1239)gGa>gAa	p.G413E	TPP2_ENST00000376065.4_Missense_Mutation_p.G413E			P29144	TPP2_HUMAN	tripeptidyl peptidase II	413					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCTTCTAGAGGACCTAGGTAG	0.408													A	103282539	G	A	103282539	3	1	500	1	0	0	0	0	1	0	0	0	16513	1174	41	2	1276	2	TPP2	13	103282539	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	66394027	103282539	11887339	58	45682											
TDP1	55775	broad.mit.edu	37	chr14	90509460	90509460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgtcaaagcaccggatacGcatgggaacatgtgggtgcc	11	8	13	9	2	1	0	1	0	0	0	1	2	1	2	2	3	4	2	2	3	4	2	rs75808917	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:90509460G>A	ENST00000555880.1	+	14	1701	c.1691G>A	c.(1690-1692)cGc>cAc	p.R564H	TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000335725.4_Silent_p.T600T|TDP1_ENST00000393454.2_Silent_p.T600T|TDP1_ENST00000357382.3_Silent_p.T361T			Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	0					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		CACCGGATACGCATGGGAACA	0.418								Repair of DNA-protein crosslinks					A	90509460	G	A	90509460	3	1	500	1	0	0	0	0	1	0	0	0	15828	1074	38	1	1858	1	TDP1	14	90509460	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		90509460	16840080	59	45683											
CATSPERB	79820	broad.mit.edu	37	chr14	92083964	92083964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtaaaactttgctagctgCagaaattgttattacataac	15	14	6	6	0	0	1	0	0	0	1	0	1	0	1	0	0	6	5	0	0	7	7			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr14:92083964C>T	ENST00000256343.3	-	20	2533	c.2377G>A	c.(2377-2379)Gca>Aca	p.A793T		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	793					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTGCTAGCTGCAGAAATTGTT	0.299													T	92083964	C	T	92083964	3	4	500	1	0	0	0	0	1	0	0	0	2717	710	25	2	1005	2	CATSPERB	14	92083964	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	1574504	92083964	15265576	60	45684											
SLC12A6	9990	broad.mit.edu	37	chr15	34528987	34528987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccatcatcaaagtgcgctcGtaagtatatgctgatatatc	12	13	7	9	2	2	1	2	1	0	0	5	1	3	1	1	0	2	4	1	0	6	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:34528987G>A	ENST00000354181.3	-	23	3456	c.2964C>T	c.(2962-2964)taC>taT	p.Y988Y	SLC12A6_ENST00000397707.2_Silent_p.Y973Y|SLC12A6_ENST00000558667.1_Silent_p.Y988Y|SLC12A6_ENST00000290209.5_Silent_p.Y937Y|SLC12A6_ENST00000458406.2_Silent_p.Y929Y|SLC12A6_ENST00000558589.1_Silent_p.Y979Y|SLC12A6_ENST00000560611.1_Silent_p.Y988Y|SLC12A6_ENST00000397702.2_Silent_p.Y929Y|SLC12A6_ENST00000451844.2_Silent_p.Y800Y|SLC12A6_ENST00000560164.1_Silent_p.Y800Y			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	988					angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity			central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	AAGTGCGCTCGTAAGTATATG	0.433													A	34528987	G	A	34528987	2	1	500	1	0	0	0	0	0	0	0	1	14481	1140	40	1		1	SLC12A6	15	34528987	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		34528987	68002405	61	45685											
PAK6	56924	broad.mit.edu	37	chr15	40564820	40564820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagattggcgagggctccacCggcatcgtctgcttggcccg	6	8	14	13	4	1	1	0	0	1	1	3	2	2	1	3	4	1	3	3	4	1	2	rs149826022	byFrequency	TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr15:40564820C>T	ENST00000455577.2	+	6	2166	c.1254C>T	c.(1252-1254)acC>acT	p.T418T	PAK6_ENST00000260404.4_Silent_p.T418T|PAK6_ENST00000542403.2_Silent_p.T418T|PAK6_ENST00000560346.1_Silent_p.T418T|PAK6_ENST00000441369.1_Silent_p.T418T|PAK6_ENST00000453867.1_Silent_p.T418T|RP11-133K1.2_ENST00000558658.1_3'UTR	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	418	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		AGGGCTCCACCGGCATCGTCT	0.637													T	40564820	C	T	40564820	2	4	500	1	0	0	0	0	0	0	0	1	11480	639	23	1		1	PAK6	15	40564820	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	6035833	40564820	61966572	62	45686											
E4F1	1877	broad.mit.edu	37	chr16	2278405	2278405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacagatgcggccgctgcCaggcagagttcaccgccttg	7	7	13	14	3	1	2	1	0	0	2	1	2	1	2	4	2	3	4	4	2	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:2278405C>G	ENST00000301727.4	+	2	238	c.190C>G	c.(190-192)Cag>Gag	p.Q64E	E4F1_ENST00000564139.1_Missense_Mutation_p.Q64E|E4F1_ENST00000565090.1_Missense_Mutation_p.Q64E	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	64	Required for ubiquitin ligase activity.				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			ovary(1)	1						CGGCCGCTGCCAGGCAGAGTT	0.662													G	2278405	C	G	2278405	3	3	500	1	0	0	0	0	1	0	0	0	4913	595	21	4	196	4	E4F1	16	2278405	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		2278405	88076348	63	45687											
MYH11	4629	broad.mit.edu	37	chr16	15876277	15876277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgttcttcactgttttggCgttgccgaaagcctccagaa	7	13	10	11	3	2	1	1	0	1	1	4	2	3	1	3	1	2	3	3	1	2	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:15876277C>T	ENST00000452625.2	-	7	799	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	MYH11_ENST00000576790.2_Missense_Mutation_p.A231T|MYH11_ENST00000300036.5_Missense_Mutation_p.A231T|MYH11_ENST00000396324.3_Missense_Mutation_p.A238T	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	231	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						ACTGTTTTGGCGTTGCCGAAA	0.468			T	CBFB	AML								T	15876277	C	T	15876277	3	4	500	1	0	0	0	0	1	0	0	0	10107	768	27	1	5406	1	MYH11	16	15876277	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	13597872	15876277	74478476	64	45688											
IGSF6	10261	broad.mit.edu	37	chr16	21655635	21655635	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaggagtatgaaggccacGcacacaccggtcacatagac	14	4	12	11	2	1	3	1	1	0	2	1	5	1	4	2	3	0	2	2	3	3	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:21655635G>A	ENST00000268389.4	-	3	571	c.510C>T	c.(508-510)tgC>tgT	p.C170C	METTL9_ENST00000396014.4_Intron|METTL9_ENST00000358154.3_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	170					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		TGAAGGCCACGCACACACCGG	0.413													A	21655635	G	A	21655635	2	1	500	1	0	0	0	0	0	0	0	1	7661	1079	38	1		1	IGSF6	16	21655635	Silent	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	5779358	21655635	68699118	65	45689											
SLC5A11	115584	broad.mit.edu	37	chr16	24883542	24883542	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctacattgctggtcaggTgagtcgggggacattgggat	8	11	15	7	1	2	1	1	1	1	0	3	3	2	3	0	5	2	1	0	5	1	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:24883542T>G	ENST00000347898.3	+	5	994		c.e5+2		SLC5A11_ENST00000569071.1_Splice_Site|SLC5A11_ENST00000545376.1_Splice_Site|SLC5A11_ENST00000539472.1_Splice_Site|SLC5A11_ENST00000565769.1_Splice_Site|SLC5A11_ENST00000568579.1_Splice_Site|SLC5A11_ENST00000424767.2_Splice_Site|SLC5A11_ENST00000449109.2_Splice_Site|SLC5A11_ENST00000567758.1_Splice_Site	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11						apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		GCTGGTCAGGTGAGTCGGGGG	0.552													G	24883542	T	G	24883542	5	3	500	1	0	0	0	0	0	0	1	0	14757	1710	59	5	388	5	SLC5A11	16	24883542	Splice_Site	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	3227907	24883542	65471211	66	45690											
YPEL3	83719	broad.mit.edu	37	chr16	30106634	30106634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgggcacagctatacctcCggtgacaatcatccaagtag	12	8	10	11	1	1	1	1	1	0	0	3	1	3	1	3	2	2	3	3	2	5	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr16:30106634C>T	ENST00000562641.1	-	1	699	c.170G>A	c.(169-171)cGg>cAg	p.R57Q	YPEL3_ENST00000566595.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000398841.1_Missense_Mutation_p.R57Q|YPEL3_ENST00000398838.4_Missense_Mutation_p.R19Q|YPEL3_ENST00000563788.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000566134.1_Missense_Mutation_p.R19Q|YPEL3_ENST00000565479.1_5'UTR			P61236	YPEL3_HUMAN	yippee-like 3 (Drosophila)	19						nucleolus				endometrium(1)|lung(2)	3						GCTATACCTCCGGTGACAATC	0.642													T	30106634	C	T	30106634	3	4	500	1	0	0	0	0	1	0	0	0	17593	652	23	1	319	1	YPEL3	16	30106634	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	5223092	30106634	60248119	67	45691											
SREBF1	6720	broad.mit.edu	37	chr17	17723758	17723758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcagggtctgtgccccCtgccccactcccagcatagg	5	7	12	17	0	1	0	0	0	1	0	2	0	2	0	5	3	3	3	5	3	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:17723758C>T	ENST00000355815.4	-	3	428	c.259G>A	c.(259-261)Ggg>Agg	p.G87R	SREBF1_ENST00000338854.5_Missense_Mutation_p.G57R|SREBF1_ENST00000435530.2_Missense_Mutation_p.G57R|SREBF1_ENST00000261646.5_Missense_Mutation_p.G57R|SREBF1_ENST00000583732.1_5'UTR	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	57	Pro/Ser-rich.				cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TCTGTGCCCCCTGCCCCACTC	0.587													T	17723758	C	T	17723758	3	4	500	1	0	0	0	0	1	0	0	0	15237	681	24	2	3346	2	SREBF1	17	17723758	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		17723758	63471452	68	45692											
RNF112	7732	broad.mit.edu	37	chr17	19316068	19316068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagaagatgaagctcctgcCgcagcggccgctgccccctg	7	5	13	16	4	0	3	0	1	0	2	1	4	1	3	5	1	4	3	5	1	2	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:19316068C>T	ENST00000461366.1	+	3	568	c.353C>T	c.(352-354)cCg>cTg	p.P118L	RNF112_ENST00000580109.1_3'UTR|CTB-187M2.2_ENST00000579897.1_RNA	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	118							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAGCTCCTGCCGCAGCGGCCG	0.642													T	19316068	C	T	19316068	3	4	500	1	0	0	0	0	1	0	0	0	13517	652	23	1		1	RNF112	17	19316068	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	1592310	19316068	61879142	69	45693											
SLFN12	55106	broad.mit.edu	37	chr17	33738466	33738466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaactggtctctcagaGacttgagtctctttaaggct	11	12	10	8	0	3	2	1	1	2	1	5	4	3	3	0	3	1	1	0	3	3	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:33738466G>T	ENST00000394562.1	-	6	2151	c.1628C>A	c.(1627-1629)tCt>tAt	p.S543Y	SLFN12_ENST00000460530.1_5'UTR|SLFN12_ENST00000304905.5_Missense_Mutation_p.S543Y|SLFN12_ENST00000452764.3_Missense_Mutation_p.S543Y			Q8IYM2	SLN12_HUMAN	schlafen family member 12	543							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTCTCTCAGAGACTTGAGTCT	0.343													T	33738466	G	T	33738466	3	4	500	1	0	0	0	0	1	0	0	0	14828	942	33	4	112	4	SLFN12	17	33738466	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	14422398	33738466	47456744	70	45694											
CALCOCO2	10241	broad.mit.edu	37	chr17	46925765	46925765	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccggggagcaagtattcCtttccaattccgtccagaaa	10	10	10	11	2	0	1	0	0	0	1	5	2	5	2	5	3	1	2	5	3	4	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:46925765C>G	ENST00000258947.3	+	4	466	c.365C>G	c.(364-366)cCt>cGt	p.P122R	CALCOCO2_ENST00000509507.1_Missense_Mutation_p.P143R|CALCOCO2_ENST00000416445.2_Missense_Mutation_p.P122R|CALCOCO2_ENST00000448105.2_Missense_Mutation_p.P146R|CALCOCO2_ENST00000508679.1_Missense_Mutation_p.P50R	NM_001261390.1|NM_001261391.1|NM_001261393.1|NM_001261395.1|NM_005831.4	NP_001248319.1|NP_001248320.1|NP_001248322.1|NP_001248324.1|NP_005822.1	Q13137	CACO2_HUMAN	calcium binding and coiled-coil domain 2	122					response to interferon-gamma|viral reproduction	cytoskeleton|Golgi apparatus|nucleus|perinuclear region of cytoplasm|soluble fraction	protein homodimerization activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	15						GCAAGTATTCCTTTCCAATTC	0.448													G	46925765	C	G	46925765	3	3	500	1	0	0	0	0	1	0	0	0	2604	681	24	4	375	4	CALCOCO2	17	46925765	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	13187299	46925765	34269445	71	45695											
SLC16A6	9120	broad.mit.edu	37	chr17	66267106	66267106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaatgtgagtccctcctaTtgttccaaccataaacccaa	12	11	6	12	0	0	1	0	1	0	0	3	2	3	2	5	1	2	1	5	1	6	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr17:66267106T>C	ENST00000327268.4	-	6	1359	c.1195A>G	c.(1195-1197)Ata>Gta	p.I399V	ARSG_ENST00000448504.2_Intron|SLC16A6_ENST00000580666.1_Missense_Mutation_p.I399V	NM_001174166.1	NP_001167637.1	O15403	MOT7_HUMAN	solute carrier family 16, member 6	399						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			large_intestine(3)|lung(8)|prostate(1)|skin(1)|urinary_tract(2)	15	all_cancers(12;1.24e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)		Pyruvic acid(DB00119)	GTCCCTCCTATTGTTCCAACC	0.443													C	66267106	T	C	66267106	3	2	500	1	0	0	0	0	1	0	0	0	14506	1493	52	3	384	3	SLC16A6	17	66267106	Missense_Mutation	SNP	T	TCGA-FG-A6IZ-01A-11D-A31L-08	19341341	66267106	14928104	72	45696											
ZNRF4	148066	broad.mit.edu	37	chr19	5456174	5456174	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctcgcaggacctgcgggtCatcctgggctgcaacaagtc	7	7	13	14	2	1	0	1	0	0	0	4	1	2	1	3	3	3	3	3	3	2	0			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:5456174C>T	ENST00000222033.4	+	1	749	c.672C>T	c.(670-672)gtC>gtT	p.V224V		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	224	PA.					integral to membrane	zinc ion binding			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACCTGCGGGTCATCCTGGGCT	0.677													T	5456174	C	T	5456174	2	4	500	1	0	0	0	0	0	0	0	1	18313	813	29	2		2	ZNRF4	19	5456174	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		5456174	53672809	73	45697											
EMR1	2015	broad.mit.edu	37	chr19	6924761	6924761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcctcgtcttggccatcGccacctttctgctgtgtcgc	2	14	10	15	3	2	0	0	0	2	0	5	0	2	0	4	1	2	1	4	1	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:6924761G>A	ENST00000312053.4	+	15	1901	c.1864G>A	c.(1864-1866)Gcc>Acc	p.A622T	EMR1_ENST00000450315.3_Missense_Mutation_p.A445T|EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Missense_Mutation_p.A481T|EMR1_ENST00000381404.4_Missense_Mutation_p.A570T	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	622					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CTTGGCCATCGCCACCTTTCT	0.527													A	6924761	G	A	6924761	3	1	500	1	0	0	0	0	1	0	0	0	5145	1087	38	1	1922	1	EMR1	19	6924761	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	1468587	6924761	52204222	74	45698											
MAST3	23031	broad.mit.edu	37	chr19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttagcttcgatgagcCgcaggaggaggccactgggc	8	6	18	9	2	0	1	0	1	0	0	1	5	0	4	2	6	2	3	2	6	1	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667													T	18260436	C	T	18260436	3	4	500	1	0	0	0	0	1	0	0	0	9401	652	23	1	3936	1	MAST3	19	18260436	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	11335675	18260436	40868547	75	45699											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:42799051G>T	ENST00000572681.2	+	21	7321	c.7253G>T	c.(7252-7254)cGt>cTt	p.R2418L	CIC_ENST00000575354.2_Missense_Mutation_p.R1512L|CIC_ENST00000160740.3_Missense_Mutation_p.R1510L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								T	42799051	G	T	42799051	3	4	500	1	0	0	0	0	1	0	0	0	3454	1145	40	4	4613	4	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	24538615	42799051	16329932	76	45700											
VN1R2	317701	broad.mit.edu	37	chr19	53762633	53762633	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctttccttcatcacctaCgtttatttagctctcttcga	6	17	4	14	2	3	0	2	0	1	0	6	1	4	0	3	0	2	2	3	0	3	8			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr19:53762633C>T	ENST00000341702.3	+	1	1089	c.1005C>T	c.(1003-1005)taC>taT	p.Y335Y	VN1R2_ENST00000598458.1_Intron	NM_173856.2	NP_776255.2	Q8NFZ6	VN1R2_HUMAN	vomeronasal 1 receptor 2	335					response to pheromone	integral to membrane|plasma membrane	pheromone receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(134;0.00301)		TCATCACCTACGTTTATTTAG	0.443													T	53762633	C	T	53762633	2	4	500	1	0	0	0	0	0	0	0	1	17281	547	19	1		1	VN1R2	19	53762633	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	10963582	53762633	5366350	77	45701											
SIRPA	140885	broad.mit.edu	37	chr20	1905410	1905410	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattccatgtggtccctagAgaacactggatctaatgaac	12	11	8	10	0	1	2	0	1	1	1	3	4	3	3	2	2	2	0	2	2	5	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:1905410A>G	ENST00000358771.4	+	5	1240	c.1088A>G	c.(1087-1089)gAg>gGg	p.E363G	SIRPA_ENST00000400068.3_Splice_Site_p.E363G|SIRPA_ENST00000356025.3_Splice_Site_p.E363G	NM_001040023.1	NP_001035112.1	P78324	SHPS1_HUMAN	signal-regulatory protein alpha	363					blood coagulation|cell adhesion|cell junction assembly|leukocyte migration	integral to membrane|plasma membrane	SH3 domain binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	21				Colorectal(46;0.018)|READ - Rectum adenocarcinoma(1;0.0556)		TGGTCCCTAGAGAACACTGGA	0.488													G	1905410	A	G	1905410	5	3	500	1	0	0	0	0	0	0	1	0	14426	318	11	3	1106	3	SIRPA	20	1905410	Splice_Site	SNP	A	TCGA-FG-A6IZ-01A-11D-A31L-08		1905410	61120110	78	45702											
TMC2	117532	broad.mit.edu	37	chr20	2591146	2591146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggagaattaccacccaCgcactggactgaagtggcag	11	6	11	13	1	0	2	0	1	0	1	0	4	0	3	3	3	1	2	3	3	3	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:2591146C>T	ENST00000358864.1	+	12	1510	c.1495C>T	c.(1495-1497)Cgc>Tgc	p.R499C	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	499						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						TTACCACCCACGCACTGGACT	0.532													T	2591146	C	T	2591146	3	4	500	1	0	0	0	0	1	0	0	0	16085	536	19	1	1541	1	TMC2	20	2591146	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	685736	2591146	60434374	79	45703											
JAG1	182	broad.mit.edu	37	chr20	10620233	10620233	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccagtttgggtgttttgtCggcgtgccgttggggggctt	1	15	18	7	3	0	0	0	0	0	0	2	0	1	0	2	5	1	4	2	5	0	5			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:10620233C>T	ENST00000254958.5	-	26	4085	c.3570G>A	c.(3568-3570)ccG>ccA	p.P1190P	JAG1_ENST00000423891.2_Silent_p.P1031P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	1190					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGTGTTTTGTCGGCGTGCCGT	0.542									Alagille Syndrome				T	10620233	C	T	10620233	2	4	500	1	0	0	0	0	0	0	0	1	7992	871	31	1		1	JAG1	20	10620233	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	8029087	10620233	52405287	80	45704											
NCOA6	23054	broad.mit.edu	37	chr20	33345723	33345723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgttgctgttgttgCtgctgctgctgctgctgctg	0	17	14	10	0	0	0	0	0	0	0	0	0	0	0	0	0	10	13	0	0	0	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr20:33345723C>T	ENST00000374796.2	-	8	3398	c.828G>A	c.(826-828)caG>caA	p.Q276Q	NCOA6_ENST00000359003.2_Silent_p.Q276Q			Q14686	NCOA6_HUMAN	nuclear receptor coactivator 6	276	CREBBP-binding region.|Gln-rich.|NCOA1-binding region.|TBP/GTF2A-binding region.				brain development|cellular lipid metabolic process|DNA recombination|DNA repair|DNA replication|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|heart development|myeloid cell differentiation|positive regulation of transcription from RNA polymerase II promoter|response to hormone stimulus|transcription initiation from RNA polymerase II promoter	transcription factor complex	chromatin binding|enzyme binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|retinoid X receptor binding|thyroid hormone receptor binding			NS(2)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(8)|large_intestine(16)|lung(37)|ovary(4)|prostate(5)|skin(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	107						gctgttgttgctgctgctgct	0.537													T	33345723	C	T	33345723	2	4	500	1	0	0	0	0	0	0	0	1	10309	796	28	2		2	NCOA6	20	33345723	Silent	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	22725490	33345723	29679797	81	45705											
LRRC3	81543	broad.mit.edu	37	chr21	45876948	45876948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaaactcagcgccaagataCgcctgtcccacaaccccctg	11	5	7	18	2	1	1	1	0	0	1	2	1	2	1	5	0	4	1	5	0	4	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:45876948C>T	ENST00000291592.4	+	2	738	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	141						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		CGCCAAGATACGCCTGTCCCA	0.672													T	45876948	C	T	45876948	3	4	500	1	0	0	0	0	1	0	0	0	9054	536	19	1	423	1	LRRC3	21	45876948	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08		45876948	2252947	82	45706											
COL18A1	80781	broad.mit.edu	37	chr21	46925298	46925306	+	In_Frame_Del	DEL	CCCCCTGGG	CCCCCTGGG	-																															gcgttcccggccctccgggcCcccctgggccccctgggccc																										TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chr21:46925298_46925306delCCCCCTGGG	ENST00000359759.4	+	35	4306_4314	c.4285_4293delCCCCCTGGG	c.(4285-4293)ccccctgggdel	p.PPG1435del	COL18A1_ENST00000355480.5_In_Frame_Del_p.PPG1200del|SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_In_Frame_Del_p.PPG1020del			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1435	Triple-helical region 10 (COL10).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		CCCTCCGGGCccccctgggccccctgggc	0.713													-	46925306	CCCCCTGGG	-	46925298	7	5	500	1	0	1	0	1	0	0	0	0	3706	623	22	0	4532	0	COL18A1	21	46925298	In_Frame_Del	DEL	CCCCCTGGG	TCGA-FG-A6IZ-01A-11D-A31L-08	1048350	46925298	1204597	83	45707											
PLCXD1	55344	broad.mit.edu	37	chrX	205505	205505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgccctgcatcacgcGccctgtcgtgctgaaatggt	5	10	12	14	3	1	1	1	1	0	0	2	1	1	1	3	2	3	2	3	2	1	1			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:205505G>A	ENST00000381657.2	+	3	747	c.233G>A	c.(232-234)cGc>cAc	p.R78H	PLCXD1_ENST00000484611.2_3'UTR|PLCXD1_ENST00000399012.1_Missense_Mutation_p.R78H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.R78H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	78	PI-PLC X-box.				intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				TGCATCACGCGCCCTGTCGTG	0.637													A	205505	G	A	205505	3	1	500	1	0	0	0	0	1	0	0	0	12118	1087	38	1	239	1	PLCXD1	23	205505	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08		205505	155065055	84	45708											
CCDC22	28952	broad.mit.edu	37	chrX	49093692	49093692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcttgccatgtctgccCggttccgcctggccatgagc	3	11	11	16	2	2	1	0	1	2	0	3	1	3	1	6	2	4	1	6	2	0	2			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:49093692C>T	ENST00000376227.3	+	2	360	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	CCDC22_ENST00000496651.1_3'UTR	NM_014008.3	NP_054727.1	O60826	CCD22_HUMAN	coiled-coil domain containing 22	64										NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(2)|skin(1)	18						CATGTCTGCCCGGTTCCGCCT	0.592													T	49093692	C	T	49093692	3	4	500	1	0	0	0	0	1	0	0	0	2824	643	23	1	196	1	CCDC22	23	49093692	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	48888187	49093692	106176868	85	45709											
PHF8	23133	broad.mit.edu	37	chrX	53966856	53966856	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtgggggctggtactgtcaGactgagattggagtcttgag	8	11	17	5	0	2	3	1	2	1	2	2	5	2	4	0	4	1	2	0	4	1	3			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:53966856G>C	ENST00000338154.6	-	21	3247	c.2743C>G	c.(2743-2745)Ctg>Gtg	p.L915V	PHF8_ENST00000357988.5_Missense_Mutation_p.L951V|PHF8_ENST00000338946.6_Missense_Mutation_p.L814V	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	951					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						GGTACTGTCAGACTGAGATTG	0.532													C	53966856	G	C	53966856	3	2	500	1	0	0	0	0	1	0	0	0	11917	933	33	4	422	4	PHF8	23	53966856	Missense_Mutation	SNP	G	TCGA-FG-A6IZ-01A-11D-A31L-08	4873164	53966856	101303704	86	45710											
LHFPL1	340596	broad.mit.edu	37	chrX	111914413	111914413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcattgaagctggcatagCgcccacattcttccaccatg	9	10	9	13	1	1	1	0	1	1	0	2	1	2	1	3	2	2	3	3	2	2	4			TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:111914413C>T	ENST00000371968.3	-	2	445	c.206G>A	c.(205-207)cGc>cAc	p.R69H	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69H	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane		p.R69H(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						GCTGGCATAGCGCCCACATTC	0.592													T	111914413	C	T	111914413	3	4	500	1	0	0	0	0	1	0	0	0	8824	768	27	1	468	1	LHFPL1	23	111914413	Missense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	57947557	111914413	43356147	87	45711											
F9	2158	broad.mit.edu	37	chrX	138643994	138643994	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaccgagccacatgtcttCgatctacaaagttcaccatc	11	11	6	13	2	3	1	1	1	2	0	5	3	3	1	3	0	2	1	3	0	2	4	rs137852261		TCGA-FG-A6IZ-01A-11D-A31L-08	TCGA-FG-A6IZ-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	310777ef-0dea-4092-90a9-bc8610020383	a0d9c0c2-add8-47bf-8f42-9919f18f64c2	g.chrX:138643994C>T	ENST00000218099.2	+	8	1157	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	F9_ENST00000394090.2_Nonsense_Mutation_p.R346*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	384	Peptidase S1.		R -> L (in THR-FIX; factor IX Padua; higher specific activity than wild-type).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity	p.R384*(3)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	CACATGTCTTCGATCTACAAA	0.463													T	138643994	C	T	138643994	4	4	500	1	0	0	0	0	0	1	0	0	5396	876	31	1	1180	1	F9	23	138643994	Nonsense_Mutation	SNP	C	TCGA-FG-A6IZ-01A-11D-A31L-08	26729581	138643994	16626566	88	45712											
KIF1B	23095	broad.mit.edu	37	chr1	10386358	10386358	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggaggagggatcagatctCttcagtgacgggcatgaccc	10	7	14	10	2	3	3	2	2	1	1	4	6	3	6	1	4	0	1	1	4	0	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:10386358C>G	ENST00000377086.1	+	27	3067	c.2865C>G	c.(2863-2865)ctC>ctG	p.L955L	KIF1B_ENST00000263934.6_Silent_p.L909L|KIF1B_ENST00000377081.1_Silent_p.L955L			O60333	KIF1B_HUMAN	kinesin family member 1B	955					anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GATCAGATCTCTTCAGTGACG	0.532													G	10386358	C	G	10386358	2	3	501	1	0	0	0	0	0	0	0	1	8342	900	32	4		4	KIF1B	1	10386358	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		10386358	238864263	1	45713											
DCST1	149095	broad.mit.edu	37	chr1	155014235	155014235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccgtcgttggtttgaccGcaagcatgaacagtgcatga	9	10	12	10	3	0	3	0	3	0	0	1	3	0	3	2	1	4	5	2	1	2	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:155014235G>A	ENST00000295542.1	+	8	890	c.794G>A	c.(793-795)cGc>cAc	p.R265H	DCST1_ENST00000423025.2_Missense_Mutation_p.R240H|DCST1_ENST00000392480.1_Missense_Mutation_p.R265H|DCST1_ENST00000368419.2_Missense_Mutation_p.R265H	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	265						integral to membrane	zinc ion binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			TGGTTTGACCGCAAGCATGAA	0.537													A	155014235	G	A	155014235	3	1	501	1	0	0	0	0	1	0	0	0	4336	1087	38	1	820	1	DCST1	1	155014235	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	144627877	155014235	94236386	2	45714											
MYOC	4653	broad.mit.edu	37	chr1	171605167	171605167	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatcatgctgctgtacttAtagcggttcttgaatgggat	9	15	10	7	1	3	1	2	1	1	0	3	2	3	2	0	2	4	4	0	2	5	5			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:171605167A>T	ENST00000037502.6	-	3	1484	c.1413T>A	c.(1411-1413)taT>taA	p.Y471*		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response		Olfactomedin-like.		Y -> C (in GLC1A; uncertain pathogenicity).		anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TGCTGTACTTATAGCGGTTCT	0.488													T	171605167	A	T	171605167	4	4	501	1	0	0	0	0	0	1	0	0	10162	456	16	5	105	5	MYOC	1	171605167	Nonsense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	16590932	171605167	77645454	3	45715											
OBSCN	84033	broad.mit.edu	37	chr1	228557667	228557667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcatccccatttgcCggcgagagtgaccgtgccac	7	8	10	16	3	1	2	1	1	0	1	2	3	2	2	6	1	3	1	6	1	0	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:228557667C>T	ENST00000570156.2	+	102	22937	c.22863C>T	c.(22861-22863)gcC>gcT	p.A7621A	OBSCN_ENST00000366707.4_Silent_p.A4298A|OBSCN_ENST00000422127.1_Silent_p.A6664A	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	6664	Fibronectin type-III 4.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CCCCATTTGCCGGCGAGAGTG	0.627													T	228557667	C	T	228557667	2	4	501	1	0	0	0	0	0	0	0	1	10888	639	23	1		1	OBSCN	1	228557667	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	56952500	228557667	20692954	4	45716											
RYR2	6262	broad.mit.edu	37	chr1	237863644	237863644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcaagcagggccagttcactCacacccgaaaccagcccaaa	14	4	7	16	1	3	0	3	0	0	0	3	1	3	0	4	1	3	2	4	1	3	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr1:237863644C>T	ENST00000366574.2	+	65	9561	c.9244C>T	c.(9244-9246)Cac>Tac	p.H3082Y	RYR2_ENST00000542537.1_Missense_Mutation_p.H3066Y|RYR2_ENST00000360064.6_Missense_Mutation_p.H3080Y|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3082					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.H3080N(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CCAGTTCACTCACACCCGAAA	0.493													T	237863644	C	T	237863644	3	4	501	1	0	0	0	0	1	0	0	0	13860	826	29	2	9502	2	RYR2	1	237863644	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	9305977	237863644	11386977	5	45717											
NBEAL1	65065	broad.mit.edu	37	chr2	204001498	204001498	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagatgaaataaaactaacGtaagcatttagttagtgatt	17	13	7	4	1	1	3	1	2	0	1	1	3	1	3	0	0	3	3	0	0	7	7			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr2:204001498G>A	ENST00000449802.1	+	28	4811		c.e28+1			NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1								binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TAAAACTAACGTAAGCATTTA	0.348													A	204001498	G	A	204001498	5	1	501	1	0	0	0	0	0	0	1	0	10264	1159	40	1	4585	1	NBEAL1	2	204001498	Splice_Site	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		204001498	39197875	6	45718											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	501	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	5111614	209113112	34086261	7	45719											
ZNF662	389114	broad.mit.edu	37	chr3	42956752	42956752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtaatgactgtgggaaggCcttcagtcagaattctgtct	10	13	11	7	0	4	2	2	1	2	1	4	3	4	3	1	2	0	1	1	2	3	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:42956752C>T	ENST00000541208.1	+	5	1556	c.1187C>T	c.(1186-1188)gCc>gTc	p.A396V	KRBOX1_ENST00000426937.1_Intron|ZNF662_ENST00000422021.1_Intron|ZNF662_ENST00000328199.6_Missense_Mutation_p.A422V|ZNF662_ENST00000440367.2_Missense_Mutation_p.A396V			Q6ZS27	ZN662_HUMAN	zinc finger protein 662	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(6)|lung(5)|upper_aerodigestive_tract(1)	15				KIRC - Kidney renal clear cell carcinoma(284;0.217)		TGTGGGAAGGCCTTCAGTCAG	0.428													T	42956752	C	T	42956752	3	4	501	1	0	0	0	0	1	0	0	0	18172	739	26	2	1388	2	ZNF662	3	42956752	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		42956752	155065678	8	45720											
CBLB	868	broad.mit.edu	37	chr3	105452941	105452941	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgcacaaatcttacagAgctgaaaagtggagcccatt	13	10	8	10	0	2	2	0	1	2	1	3	3	2	3	1	1	4	2	1	1	4	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:105452941A>G	ENST00000264122.4	-	9	1436	c.1115T>C	c.(1114-1116)cTc>cCc	p.L372P	CBLB_ENST00000405772.1_Missense_Mutation_p.L372P|CBLB_ENST00000545639.1_3'UTR|CBLB_ENST00000403724.1_Missense_Mutation_p.L372P|CBLB_ENST00000394027.3_Missense_Mutation_p.L394P	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	372	Linker.				cell surface receptor linked signaling pathway|NLS-bearing substrate import into nucleus	cytoplasm|nucleus	calcium ion binding|ligase activity|signal transducer activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						AATCTTACAGAGCTGAAAAGT	0.398			Mis S		AML								G	105452941	A	G	105452941	3	3	501	1	0	0	0	0	1	0	0	0	2727	304	11	3	1877	3	CBLB	3	105452941	Missense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	62496189	105452941	92569489	9	45721											
ZBTB20	26137	broad.mit.edu	37	chr3	114069124	114069124	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggggtgacactcacctgTgtgtacgaacatgtgcttga	8	11	14	8	1	1	2	1	2	0	0	1	3	1	2	1	3	3	2	1	3	2	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:114069124T>C	ENST00000462705.1	-	11	2403	c.1582A>G	c.(1582-1584)Aca>Gca	p.T528A	ZBTB20_ENST00000474710.1_Missense_Mutation_p.T601A|ZBTB20_ENST00000357258.3_Missense_Mutation_p.T528A|ZBTB20_ENST00000471418.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000481632.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000464560.1_Missense_Mutation_p.T528A|ZBTB20_ENST00000393785.2_Missense_Mutation_p.T528A	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	601					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		CACTCACCTGTGTGTACGAAC	0.547													C	114069124	T	C	114069124	3	2	501	1	0	0	0	0	1	0	0	0	17630	1696	59	3	432	3	ZBTB20	3	114069124	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	8616183	114069124	83953306	10	45722											
OTOL1	131149	broad.mit.edu	37	chr3	161221128	161221128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggaatggaaggcaaaagcGgccgtaatggtctgcctggg	10	7	17	7	2	1	0	0	0	1	0	1	2	1	2	2	6	2	2	2	6	5	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr3:161221128G>A	ENST00000327928.4	+	4	832	c.832G>A	c.(832-834)Ggc>Agc	p.G278S		NM_001080440.1	NP_001073909.1	A6NHN0	OTOL1_HUMAN	otolin 1	278	Collagen-like 3.					collagen				central_nervous_system(2)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)	27						AGGCAAAAGCGGCCGTAATGG	0.542													A	161221128	G	A	161221128	3	1	501	1	0	0	0	0	1	0	0	0	11380	1116	39	1	846	1	OTOL1	3	161221128	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	47152004	161221128	36801302	11	45723											
PDGFRA	5156	broad.mit.edu	37	chr4	55141093	55141093	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtggacccgatgcagcTgccttatgactcaagatggg	9	11	12	9	1	1	2	1	1	0	1	1	4	1	3	2	2	3	2	2	2	3	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr4:55141093T>C	ENST00000257290.5	+	12	2070	c.1739T>C	c.(1738-1740)cTg>cCg	p.L580P	FIP1L1_ENST00000507166.1_Splice_Site_p.L340P	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	580					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CCGATGCAGCTGCCTTATGAC	0.458			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55141093	T	C	55141093	3	2	501	1	0	0	0	0	1	0	0	0	11737	1580	55	3	1781	3	PDGFRA	4	55141093	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		55141093	136013183	12	45724											
DFNA5	1687	broad.mit.edu	37	chr7	24747789	24747789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatcatcaaataggaccGcctggaagatgtcactcaaa	14	9	8	10	1	5	1	5	0	0	1	5	3	5	3	2	2	0	1	2	2	4	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:24747789G>A	ENST00000545231.1	-	9	1605	c.455C>T	c.(454-456)gCg>gTg	p.A152V	DFNA5_ENST00000409970.1_Missense_Mutation_p.A152V|DFNA5_ENST00000342947.3_Missense_Mutation_p.A316V|DFNA5_ENST00000409775.3_Missense_Mutation_p.A316V|DFNA5_ENST00000419307.1_Missense_Mutation_p.A152V			O60443	DFNA5_HUMAN	deafness, autosomal dominant 5	316					sensory perception of sound					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)|stomach(1)	19						AAATAGGACCGCCTGGAAGAT	0.512													A	24747789	G	A	24747789	3	1	501	1	0	0	0	0	1	0	0	0	4493	1087	38	1	559	1	DFNA5	7	24747789	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		24747789	134390874	13	45725											
PURB	5814	broad.mit.edu	37	chr7	44924342	44924342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcgccgcctcccgggccGcctgccagctcgtcgtcctc	1	6	12	22	7	0	0	0	0	0	0	5	0	2	0	8	2	2	1	8	2	0	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:44924342G>A	ENST00000395699.2	-	1	618	c.606C>T	c.(604-606)ggC>ggT	p.G202G		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	202	Gly-rich.				regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding	p.G202G(1)		large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						ctcccgggccgccTGCCAGCT	0.701													A	44924342	G	A	44924342	2	1	501	1	0	0	0	0	0	0	0	1	12916	1074	38	1		1	PURB	7	44924342	Silent	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	20176553	44924342	114214321	14	45726											
UPK3B	80761	broad.mit.edu	37	chr7	76141108	76141108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgaccccatggcgggcagcGgaggcgcccccgtgctgcgg	4	3	18	16	6	0	0	0	0	0	0	0	2	0	1	4	5	3	2	4	5	0	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:76141108G>A	ENST00000419923.2	+	2	760	c.535G>A	c.(535-537)Gga>Aga	p.G179R	UPK3B_ENST00000448265.3_Missense_Mutation_p.G179R|UPK3B_ENST00000443097.2_Missense_Mutation_p.G124R|UPK3B_ENST00000334348.3_Missense_Mutation_p.G124R|UPK3B_ENST00000257632.5_Missense_Mutation_p.G179R|UPK3B_ENST00000394849.1_Missense_Mutation_p.G124R			Q9BT76	UPK3B_HUMAN	uroplakin 3B	179					negative regulation of gene expression	integral to membrane|plasma membrane				breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(1)|lung(1)|skin(2)	8		Myeloproliferative disorder(862;0.204)				GGCGGGCAGCGGAGGCGCCCC	0.706													A	76141108	G	A	76141108	3	1	501	1	0	0	0	0	1	0	0	0	17113	1117	39	1	541	1	UPK3B	7	76141108	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	31216766	76141108	82997555	15	45727											
TRRAP	8295	broad.mit.edu	37	chr7	98547852	98547852	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcgctttgtagacttcaaCgaccccaacttcggagatga	10	12	8	11	3	1	3	1	1	0	2	3	5	1	3	2	1	2	2	2	1	3	5	rs113411331		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:98547852C>T	ENST00000359863.4	+	37	5489	c.5280C>T	c.(5278-5280)aaC>aaT	p.N1760N	TRRAP_ENST00000446306.3_Silent_p.N1741N|TRRAP_ENST00000355540.3_Silent_p.N1742N	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	1760					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			TAGACTTCAACGACCCCAACT	0.428													T	98547852	C	T	98547852	2	4	501	1	0	0	0	0	0	0	0	1	16702	535	19	1		1	TRRAP	7	98547852	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	22406744	98547852	60590811	16	45728											
NUP205	23165	broad.mit.edu	37	chr7	135272653	135272653	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctggagcttgctctagaAtattggtgtcccacagagcc	9	11	10	11	0	2	2	0	0	2	2	3	3	3	3	2	2	3	2	2	2	3	4			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr7:135272653A>G	ENST00000285968.6	+	10	1412	c.1386A>G	c.(1384-1386)gaA>gaG	p.E462E	NUP205_ENST00000440390.2_Intron	NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	462					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TTGCTCTAGAATATTGGTGTC	0.468													G	135272653	A	G	135272653	2	3	501	1	0	0	0	0	0	0	0	1	10835	98	4	3		3	NUP205	7	135272653	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	36724801	135272653	23866010	17	45729											
ASH2L	9070	broad.mit.edu	37	chr8	37976813	37976813	+	Frame_Shift_Del	DEL	A	A	-																															attgcagcaggaagcagcggAaaaggacgaggagccaagcg																										TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr8:37976813delA	ENST00000343823.6	+	9	1188	c.879delA	c.(877-879)ggafs	p.G293fs	ASH2L_ENST00000250635.7_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000545394.1_Frame_Shift_Del_p.G154fs|ASH2L_ENST00000521652.1_Frame_Shift_Del_p.G199fs|ASH2L_ENST00000428278.2_Frame_Shift_Del_p.G199fs	NM_004674.4	NP_004665.2	Q9UBL3	ASH2L_HUMAN	ash2 (absent, small, or homeotic)-like (Drosophila)	293					hemopoiesis|histone H3-K4 methylation|positive regulation of cell proliferation|regulation of transcription, DNA-dependent|response to estrogen stimulus|transcription from RNA polymerase II promoter	Set1C/COMPASS complex	metal ion binding|protein binding|transcription regulatory region DNA binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|stomach(1)	19	Colorectal(12;0.000501)	Lung NSC(58;0.0295)|all_lung(54;0.0413)				GAAGCAGCGGAAAAGGACGAG	0.567													-	37976813	A	-	37976813	7	5	501	1	0	1	0	1	0	0	0	0	1047	233	9	0	913	0	ASH2L	8	37976813	Frame_Shift_Del	DEL	A	TCGA-FG-A6J1-01A-11D-A31L-08		37976813	108387209	18	45730											
EBF3	253738	broad.mit.edu	37	chr10	131639180	131639180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccctagactggccatggCgccacttccatatccattca	9	9	7	16	1	1	1	1	0	0	1	3	2	3	1	6	2	0	0	6	2	2	4	rs138447716		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr10:131639180C>T	ENST00000368648.3	-	14	1534	c.1462G>A	c.(1462-1464)Gcc>Acc	p.A488T	EBF3_ENST00000355311.5_Missense_Mutation_p.A497T	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	497	Pro/Ser/Thr-rich.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		CTGGCCATGGCGCCACTTCCA	0.547													T	131639180	C	T	131639180	3	4	501	1	0	0	0	0	1	0	0	0	4921	768	27	1	205	1	EBF3	10	131639180	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		131639180	3895567	19	45731											
OR4A16	81327	broad.mit.edu	37	chr11	55111417	55111417	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatcattgtggttgccctCgtttttgttccctgtatttt	4	20	7	10	1	1	0	1	0	0	0	3	0	2	0	2	1	1	4	2	1	1	8			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr11:55111417C>T	ENST00000314721.2	+	1	791	c.741C>T	c.(739-741)ctC>ctT	p.L247L		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTTGCCCTCGTTTTTGTTC	0.398													T	55111417	C	T	55111417	2	4	501	1	0	0	0	0	0	0	0	1	11117	871	31	1		1	OR4A16	11	55111417	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		55111417	79895099	20	45732											
CLIP1	6249	broad.mit.edu	37	chr12	122845629	122845629	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcactcgcctcactgcGttggccttggctttggctgg	3	12	12	14	2	2	0	2	0	0	0	3	0	2	0	3	4	1	3	3	4	0	3	rs111985493		TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr12:122845629G>A	ENST00000545889.1	-	0	134				CLIP1_ENST00000537178.1_Silent_p.N294N|CLIP1_ENST00000361654.4_Silent_p.N294N|CLIP1_ENST00000540338.1_Silent_p.N294N|CLIP1_ENST00000302528.7_Silent_p.N294N|CLIP1_ENST00000358808.2_Silent_p.N294N			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GCCTCACTGCGTTGGCCTTGG	0.562													A	122845629	G	A	122845629	1	1	501	1	0	0	0	0	0	0	0	0	3563	1136	40	1		1	CLIP1	12	122845629	Translation_Start_Site	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		122845629	11006266	21	45733											
TBC1D4	9882	broad.mit.edu	37	chr13	75887015	75887015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcaggtagatgaggtccTttttctcccttctccatcac	6	14	8	13	0	3	2	1	1	2	1	6	2	4	2	3	2	1	3	3	2	1	4			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr13:75887015T>C	ENST00000377636.3	-	13	2588	c.2242A>G	c.(2242-2244)Agg>Ggg	p.R748G	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R685G|TBC1D4_ENST00000425511.1_5'UTR|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R740G	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	748	Ser-rich.					cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GATGAGGTCCTTTTTCTCCCT	0.502													C	75887015	T	C	75887015	3	2	501	1	0	0	0	0	1	0	0	0	15722	1608	56	3	1690	3	TBC1D4	13	75887015	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		75887015	39282863	22	45734											
OR11H4	390442	broad.mit.edu	37	chr14	20711005	20711005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtcagcaacacacatcGtgacagagtttattctcctg	12	10	8	11	1	2	2	1	1	1	1	4	2	2	2	1	1	2	2	1	1	2	3	rs142720326	byFrequency	TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:20711005G>A	ENST00000315409.2	+	1	108	c.55G>A	c.(55-57)Gtg>Atg	p.V19M		NM_001004479.1	NP_001004479.1	Q8NGC9	O11H4_HUMAN	olfactory receptor, family 11, subfamily H, member 4	19					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(3)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)	29	all_cancers(95;0.000888)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0146)		AACACACATCGTGACAGAGTT	0.418													A	20711005	G	A	20711005	3	1	501	1	0	0	0	0	1	0	0	0	11004	1145	40	1	57	1	OR11H4	14	20711005	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		20711005	86638535	23	45735											
FUT8	2530	broad.mit.edu	37	chr14	66083061	66083061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccaaagacatgcagatgAatttcttttggatttaggac	13	13	8	7	0	1	3	0	1	1	2	2	5	2	5	1	2	1	1	1	2	3	5			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr14:66083061A>G	ENST00000360689.5	+	5	2179	c.452A>G	c.(451-453)gAa>gGa	p.E151G	FUT8_ENST00000358307.2_5'UTR|FUT8_ENST00000394586.2_Missense_Mutation_p.E151G|FUT8_ENST00000394585.1_Missense_Mutation_p.E151G|FUT8_ENST00000557164.1_5'UTR	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	151					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		CATGCAGATGAATTTCTTTTG	0.323													G	66083061	A	G	66083061	3	3	501	1	0	0	0	0	1	0	0	0	6162	246	9	3	462	3	FUT8	14	66083061	Missense_Mutation	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	45372056	66083061	41266479	24	45736											
DUOX1	53905	broad.mit.edu	37	chr15	45442843	45442843	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcaggggtggaggtgccTgaagtcatcaaggacctctg	8	10	15	8	0	3	1	2	1	1	0	3	3	3	3	2	5	2	1	2	5	2	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr15:45442843T>C	ENST00000321429.4	+	23	3239	c.2832T>C	c.(2830-2832)ccT>ccC	p.P944P	DUOX1_ENST00000389037.3_Silent_p.P944P|DUOX1_ENST00000561166.1_Silent_p.P590P	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	944					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGGAGGTGCCTGAAGTCATCA	0.602													C	45442843	T	C	45442843	2	2	501	1	0	0	0	0	0	0	0	1	4839	1567	55	3		3	DUOX1	15	45442843	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		45442843	57088549	25	45737											
ITGAD	3681	broad.mit.edu	37	chr16	31422117	31422117	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtcctgggggccccccGctaccagcataccgggaagg	6	5	14	16	2	0	0	0	0	0	0	1	1	1	1	7	5	3	2	7	5	3	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:31422117G>A	ENST00000389202.2	+	12	1323	c.1274G>A	c.(1273-1275)cGc>cAc	p.R425H		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	425					cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GGGGCCCCCCGCTACCAGCAT	0.642													A	31422117	G	A	31422117	3	1	501	1	0	0	0	0	1	0	0	0	7942	1087	38	1	1320	1	ITGAD	16	31422117	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		31422117	58932636	26	45738											
HSF4	3299	broad.mit.edu	37	chr16	67203680	67203680	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccggaagccagtcccTccccctaagaccccgcgcct	6	5	10	20	3	0	1	0	0	0	1	2	2	2	2	8	2	1	0	8	2	2	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr16:67203680T>C	ENST00000264009.8	+	15	2436	c.1471T>C	c.(1471-1473)Tcc>Ccc	p.S491P	HSF4_ENST00000421453.1_Missense_Mutation_p.S461P|HSF4_ENST00000521374.1_Missense_Mutation_p.S491P|HSF4_ENST00000584272.1_Missense_Mutation_p.S461P	NM_001040667.2	NP_001035757.1	Q9ULV5	HSF4_HUMAN	heat shock transcription factor 4	491					response to stress	nucleus	sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		AGCCAGTCCCTCCCCCTAAGA	0.662											OREG0023873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	67203680	T	C	67203680	3	2	501	1	0	0	0	0	1	0	0	0	7453	1551	54	3	1535	3	HSF4	16	67203680	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	35781563	67203680	23151073	27	45739											
ACACA	31	broad.mit.edu	37	chr17	35549066	35549066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaatgcctgatgattgcacGaacaaagaacctgtagtctg	14	9	10	8	1	1	4	0	2	1	2	1	5	1	4	2	0	4	2	2	0	5	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:35549066G>A	ENST00000353139.5	-	37	4862	c.4381C>T	c.(4381-4383)Cgt>Tgt	p.R1461C	ACACA_ENST00000360679.3_Missense_Mutation_p.R1366C|ACACA_ENST00000394406.2_Missense_Mutation_p.R1424C|ACACA_ENST00000335166.5_Missense_Mutation_p.R1346C	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1424					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.R1461C(1)|p.R1366C(1)		NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGATTGCACGAACAAAGAAC	0.478													A	35549066	G	A	35549066	3	1	501	1	0	0	0	0	1	0	0	0	106	1058	37	1	2850	1	ACACA	17	35549066	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08		35549066	45646144	28	45740											
THRA	7067	broad.mit.edu	37	chr17	38240101	38240101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accccagggcttctttcgccGcacaatccagaagaacctcc	10	7	7	17	2	1	2	0	0	1	2	4	2	3	2	6	1	1	2	6	1	3	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38240101G>A	ENST00000450525.2	+	5	727	c.236G>A	c.(235-237)cGc>cAc	p.R79H	THRA_ENST00000264637.4_Missense_Mutation_p.R79H|THRA_ENST00000546243.1_Missense_Mutation_p.R79H|THRA_ENST00000394121.4_Missense_Mutation_p.R79H|THRA_ENST00000584985.1_Missense_Mutation_p.R79H	NM_199334.3	NP_955366.1	P10827	THA_HUMAN	thyroid hormone receptor, alpha	79					negative regulation of RNA polymerase II transcriptional preinitiation complex assembly|negative regulation of transcription initiation, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter	cytosol|nucleoplasm	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|TBP-class protein binding|thyroid hormone binding|thyroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R79H(2)		endometrium(1)|kidney(3)|large_intestine(2)|lung(4)|prostate(1)	11	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Levothyroxine(DB00451)|Liothyronine(DB00279)	TTCTTTCGCCGCACAATCCAG	0.547													A	38240101	G	A	38240101	3	1	501	1	0	0	0	0	1	0	0	0	15973	1087	38	1	250	1	THRA	17	38240101	Missense_Mutation	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	2691035	38240101	42955109	29	45741											
KRT25	147183	broad.mit.edu	37	chr17	38906790	38906790	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatctgagcctggatctgCgccagctgcgcacagtagtt	7	9	12	13	3	2	1	0	1	2	0	2	3	2	2	3	1	4	4	3	1	1	2			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:38906790C>T	ENST00000312150.4	-	6	1077	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339A(2)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CCTGGATCTGCGCCAGCTGCG	0.562													T	38906790	C	T	38906790	2	4	501	1	0	0	0	0	0	0	0	1	8520	755	27	1		1	KRT25	17	38906790	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	666689	38906790	42288420	30	45742											
NBR1	4077	broad.mit.edu	37	chr17	41352482	41352482	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggttgaggctgggcaggaAccagctgaggctggggaaag	9	5	21	6	0	0	2	0	2	0	0	0	4	0	4	1	8	2	5	1	8	2	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr17:41352482A>G	ENST00000422280.1	+	17	2784	c.2325A>G	c.(2323-2325)gaA>gaG	p.E775E	NBR1_ENST00000341165.6_Silent_p.E775E|NBR1_ENST00000389312.4_Silent_p.E775E|NBR1_ENST00000590996.1_Silent_p.E775E|NBR1_ENST00000589872.1_Silent_p.E775E|NBR1_ENST00000542611.1_Silent_p.E754E	NM_031858.2	NP_114064.1	Q14596	NBR1_HUMAN	neighbor of BRCA1 gene 1	775					macroautophagy|protein oligomerization	autophagic vacuole|cytoplasmic vesicle|cytosol|late endosome|lysosome|sarcomere	ubiquitin binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	24		Breast(137;0.00086)		BRCA - Breast invasive adenocarcinoma(366;0.0934)		CTGGGCAGGAACCAGCTGAGG	0.617													G	41352482	A	G	41352482	2	3	501	1	0	0	0	0	0	0	0	1	10276	40	2	3		3	NBR1	17	41352482	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	2445692	41352482	39842728	31	45743											
FBXO15	201456	broad.mit.edu	37	chr18	71740936	71740936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggtttcccatgttcatcCaaaagagttacgtccatcat	12	12	7	10	1	2	1	2	0	0	1	5	1	5	1	3	1	1	3	3	1	4	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr18:71740936C>T	ENST00000269500.5	-	10	1400	c.1065G>A	c.(1063-1065)ttG>ttA	p.L355L	FBXO15_ENST00000580806.1_5'UTR|FBXO15_ENST00000419743.2_Silent_p.L431L	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	355										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CATGTTCATCCAAAAGAGTTA	0.453													T	71740936	C	T	71740936	2	4	501	1	0	0	0	0	0	0	0	1	5777	593	21	2		2	FBXO15	18	71740936	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		71740936	6336312	32	45744											
SH2D3A	10045	broad.mit.edu	37	chr19	6755032	6755032	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatctattctcttcctccTcatcctcctcggcctcccac	6	13	2	20	1	3	0	1	0	2	0	10	0	8	0	6	1	1	0	6	1	2	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:6755032T>C	ENST00000245908.6	-	5	1060	c.791A>G	c.(790-792)gAg>gGg	p.E264G	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Missense_Mutation_p.E142G	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	264	Poly-Glu.				JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						CTCTTCCTCCTCATCCTCCTC	0.622													C	6755032	T	C	6755032	3	2	501	1	0	0	0	0	1	0	0	0	14326	1551	54	3	963	3	SH2D3A	19	6755032	Missense_Mutation	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08		6755032	52373951	33	45745											
ELAVL1	1994	broad.mit.edu	37	chr19	8038658	8038658	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgatccgcccaaaccgAgagaacatgtcttctacgtc	11	10	8	12	3	2	3	0	2	2	1	4	5	3	3	3	0	3	0	3	0	3	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:8038658A>G	ENST00000407627.2	-	4	510	c.381T>C	c.(379-381)tcT>tcC	p.S127S	ELAVL1_ENST00000351593.5_Silent_p.S154S|ELAVL1_ENST00000593807.1_Silent_p.S127S|ELAVL1_ENST00000596459.1_Silent_p.S127S	NM_001419.2	NP_001410.2	Q15717	ELAV1_HUMAN	ELAV like RNA binding protein 1	127	RRM 2.				3'-UTR-mediated mRNA stabilization|multicellular organismal development	cytoplasm|nucleoplasm	identical protein binding|mRNA binding|nucleotide binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						GCCCAAACCGAGAGAACATGT	0.602													G	8038658	A	G	8038658	2	3	501	1	0	0	0	0	0	0	0	1	5090	291	11	3		3	ELAVL1	19	8038658	Silent	SNP	A	TCGA-FG-A6J1-01A-11D-A31L-08	1283626	8038658	51090325	34	45746											
MEF2B	100271849	broad.mit.edu	37	chr19	19260143	19260143	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactggaagaggcggttggcGctgttgaagatgatgagggc	9	9	18	5	2	0	5	0	3	0	2	0	6	0	6	0	5	1	3	0	5	3	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr19:19260143G>A	ENST00000602424.2	-	5	876	c.150C>T	c.(148-150)agC>agT	p.S50S	MEF2B_ENST00000410050.1_Silent_p.S50S|MEF2B_ENST00000409224.1_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000514819.3_Silent_p.S67S|MEF2B_ENST00000424583.2_Silent_p.S50S|MEF2BNB-MEF2B_ENST00000602276.1_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_Silent_p.S50S|MEF2B_ENST00000409447.2_Silent_p.S50S|MEF2B_ENST00000162023.5_Silent_p.S50S	NM_005919.3	NP_005910.1			myocyte enhancer factor 2B											breast(1)|haematopoietic_and_lymphoid_tissue(21)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(5;0.00011)|Epithelial(12;0.00412)			GGCGGTTGGCGCTGTTGAAGA	0.567													A	19260143	G	A	19260143	2	1	501	1	0	0	0	0	0	0	0	1	9531	1078	38	1		1	MEF2B	19	19260143	Silent	SNP	G	TCGA-FG-A6J1-01A-11D-A31L-08	11221485	19260143	39868840	35	45747											
RTEL1	51750	broad.mit.edu	37	chr20	62324513	62324513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcttctaccagtttgtgCggccccaccataagcagcag	9	8	10	14	1	1	0	0	0	1	0	1	0	1	0	4	2	4	4	4	2	2	4			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr20:62324513C>T	ENST00000318100.4	+	30	3696	c.2869C>T	c.(2869-2871)Cgg>Tgg	p.R957W	RTEL1_ENST00000508582.2_Missense_Mutation_p.R981W|RTEL1_ENST00000370018.3_Missense_Mutation_p.R957W|RTEL1_ENST00000360203.5_Missense_Mutation_p.R957W|RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.R957W|RTEL1_ENST00000370003.1_Missense_Mutation_p.R202W	NM_001283009.1	NP_001269938.1	Q9NZ71	RTEL1_HUMAN	regulator of telomere elongation helicase 1	957					DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			CCAGTTTGTGCGGCCCCACCA	0.597													T	62324513	C	T	62324513	3	4	501	1	0	0	0	0	1	0	0	0	13811	759	27	1	2983	1	RTEL1	20	62324513	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		62324513	701007	36	45748											
MYO18B	84700	broad.mit.edu	37	chr22	26423239	26423239	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaactcccaagcctcgactaCgaacgcaagaccaaagtgga	16	4	8	13	3	0	1	0	0	0	1	2	4	1	2	3	1	4	1	3	1	6	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:26423239C>T	ENST00000335473.7	+	43	7549	c.7299C>T	c.(7297-7299)taC>taT	p.Y2433Y	MYO18B_ENST00000536101.1_Silent_p.Y2433Y|MYO18B_ENST00000407587.2_Silent_p.Y2434Y	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	2433						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GCCTCGACTACGAACGCAAGA	0.562													T	26423239	C	T	26423239	2	4	501	1	0	0	0	0	0	0	0	1	10142	547	19	1		1	MYO18B	22	26423239	Silent	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		26423239	24881327	37	45749											
MORC2	22880	broad.mit.edu	37	chr22	31328609	31328609	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggctcaatgcggaggcaTtcggaagtggagggctctgc	8	8	16	9	2	3	0	2	0	1	0	4	3	3	3	0	6	2	3	0	6	2	1			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chr22:31328609T>C	ENST00000397641.3	-	23	3078	c.2670A>G	c.(2668-2670)gaA>gaG	p.E890E	MORC2_ENST00000215862.4_Silent_p.E828E			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						TGCGGAGGCATTCGGAAGTGG	0.597													C	31328609	T	C	31328609	2	2	501	1	0	0	0	0	0	0	0	1	9778	1490	52	3		3	MORC2	22	31328609	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	4905370	31328609	19975957	38	45750											
USP11	8237	broad.mit.edu	37	chrX	47107222	47107222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatgtcctcttctaccaaCgccaggacgtggcgcgacgc	7	8	10	16	5	2	0	0	0	2	0	3	2	3	1	4	2	2	0	4	2	3	3			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:47107222C>T	ENST00000377107.2	+	21	3010	c.2656C>T	c.(2656-2658)Cgc>Tgc	p.R886C	USP11_ENST00000218348.3_Missense_Mutation_p.R929C			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	929					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						CTTCTACCAACGCCAGGACGT	0.637													T	47107222	C	T	47107222	3	4	501	1	0	0	0	0	1	0	0	0	17144	536	19	1	2867	1	USP11	23	47107222	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08		47107222	108163338	39	45751											
FGD1	2245	broad.mit.edu	37	chrX	54497147	54497147	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggggatgggctccagTggggggggcatccggggcat	5	5	24	7	1	0	0	0	0	0	0	2	2	2	2	2	11	0	3	2	11	0	0			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:54497147T>G	ENST00000375135.3	-	3	1261	c.528A>C	c.(526-528)ccA>ccC	p.P176P		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	176	Pro-rich.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						TGGGCTCCAGTGGGGGGGGCA	0.662													G	54497147	T	G	54497147	2	3	501	1	0	0	0	0	0	0	0	1	5881	1683	59	5		5	FGD1	23	54497147	Silent	SNP	T	TCGA-FG-A6J1-01A-11D-A31L-08	7389925	54497147	100773413	40	45752											
POF1B	79983	broad.mit.edu	37	chrX	84614572	84614572	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgttcaggattttgtaCtacatatttcctaatagtgg	10	17	7	7	0	1	0	1	0	0	0	2	1	2	1	2	2	3	2	2	2	6	10			TCGA-FG-A6J1-01A-11D-A31L-08	TCGA-FG-A6J1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	81c3188d-0dd0-4959-b16e-ff7a3f07e4a9	e6228344-5da9-4635-a757-db83c5c7939c	g.chrX:84614572C>A	ENST00000262753.4	-	4	566	c.421G>T	c.(421-423)Gta>Tta	p.V141L	POF1B_ENST00000373145.3_Missense_Mutation_p.V141L	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	141							actin binding			central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						GGATTTTGTACTACATATTTC	0.328													A	84614572	C	A	84614572	3	1	501	1	0	0	0	0	1	0	0	0	12259	565	20	4	1404	4	POF1B	23	84614572	Missense_Mutation	SNP	C	TCGA-FG-A6J1-01A-11D-A31L-08	30117425	84614572	70655988	41	45753											
MMEL1	79258	broad.mit.edu	37	chr1	2527503	2527503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcccagctcgtccagcGtctccacaaacactgtccgc	8	7	7	19	3	1	0	0	0	1	0	6	0	4	0	5	0	4	1	5	0	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:2527503G>A	ENST00000288709.6	-	15	1658	c.1418C>T	c.(1417-1419)aCg>aTg	p.T473M	MMEL1_ENST00000378412.3_Missense_Mutation_p.T482M|MMEL1_ENST00000502556.1_Missense_Mutation_p.T325M	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	482					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CTCGTCCAGCGTCTCCACAAA	0.607													A	2527503	G	A	2527503	3	1	502	1	0	0	0	0	1	0	0	0	9721	1145	40	1	934	1	MMEL1	1	2527503	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		2527503	246723118	1	45754											
PRAMEF12	390999	broad.mit.edu	37	chr1	12837337	12837337	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggagcaagctgaggccacCctgcagaccctggacttaga	10	6	12	13	0	0	3	0	1	0	2	0	5	0	5	3	3	3	3	3	3	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:12837337C>A	ENST00000357726.4	+	3	1074	c.1047C>A	c.(1045-1047)acC>acA	p.T349T		NM_001080830.1	NP_001074299.1	O95522	PRA12_HUMAN	PRAME family member 12	349										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(9)|ovary(3)|skin(1)|urinary_tract(1)	23	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00818)|Colorectal(212;5.04e-06)|Kidney(185;4.99e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000198)|COAD - Colon adenocarcinoma(227;0.000245)|BRCA - Breast invasive adenocarcinoma(304;0.000295)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		CTGAGGCCACCCTGCAGACCC	0.597													A	12837337	C	A	12837337	2	1	502	1	0	0	0	0	0	0	0	1	12510	610	22	4		4	PRAMEF12	1	12837337	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	10309834	12837337	236413284	2	45755											
PLEKHM2	23207	broad.mit.edu	37	chr1	16060354	16060354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagaaattcgaggatgccttGagcctcatccacagcgcctg	11	8	10	12	2	1	2	1	1	0	1	3	4	2	3	4	1	3	0	4	1	2	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:16060354G>A	ENST00000375799.3	+	20	3212	c.2985G>A	c.(2983-2985)ttG>ttA	p.L995L	PLEKHM2_ENST00000375793.2_Silent_p.L975L|PLEKHM2_ENST00000477849.1_3'UTR|RP11-288I21.1_ENST00000453804.1_RNA	NM_015164.2	NP_055979.2	Q8IWE5	PKHM2_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 2	995					Golgi organization	cytoplasm	kinesin binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000259)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00057)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		AGGATGCCTTGAGCCTCATCC	0.642													A	16060354	G	A	16060354	2	1	502	1	0	0	0	0	0	0	0	1	12158	1281	45	2		2	PLEKHM2	1	16060354	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	3223017	16060354	233190267	3	45756											
FUCA1	2517	broad.mit.edu	37	chr1	24175224	24175224	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgatgctcagccatttccCaacagcaagaagcctttctt	11	12	6	12	0	2	2	1	1	1	1	3	2	3	2	3	0	5	2	3	0	3	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:24175224C>A	ENST00000374479.3	-	6	1082	c.1075G>T	c.(1075-1077)Ggg>Tgg	p.G359W		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	359					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCCATTTCCCAACAGCAAGA	0.463													A	24175224	C	A	24175224	3	1	502	1	0	0	0	0	1	0	0	0	6146	594	21	4	337	4	FUCA1	1	24175224	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	8114870	24175224	225075397	4	45757											
INADL	10207	broad.mit.edu	37	chr1	62329953	62329953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagaagaacttgtggatgAaccatttctagatctgggaa	15	11	10	5	0	2	4	0	1	2	3	2	6	2	6	1	2	2	0	1	2	7	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:62329953A>G	ENST00000371158.2	+	20	2597	c.2483A>G	c.(2482-2484)gAa>gGa	p.E828G	INADL_ENST00000316485.6_Missense_Mutation_p.E828G	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	828					intracellular signal transduction|tight junction assembly	apical plasma membrane|perinuclear region of cytoplasm|tight junction	protein binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTTGTGGATGAACCATTTCTA	0.383													G	62329953	A	G	62329953	3	3	502	1	0	0	0	0	1	0	0	0	7789	246	9	3	2557	3	INADL	1	62329953	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	38154729	62329953	186920668	5	45758											
USP33	23032	broad.mit.edu	37	chr1	78163125	78163125	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaatagactgcagaaaattCcatgtttcttcagaaatctg	15	13	6	7	0	3	3	1	0	2	3	4	3	4	3	1	0	1	2	1	0	6	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:78163125C>A	ENST00000370793.1	-	25	3052	c.2706G>T	c.(2704-2706)tgG>tgT	p.W902C	USP33_ENST00000357428.1_Missense_Mutation_p.W902C|USP33_ENST00000370794.3_Missense_Mutation_p.W871C	NM_015017.4	NP_055832.3	Q8TEY7	UBP33_HUMAN	ubiquitin specific peptidase 33	902	DUSP 2.				axon guidance|cell migration|endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm|VCB complex	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	44						GCAGAAAATTCCATGTTTCTT	0.363													A	78163125	C	A	78163125	3	1	502	1	0	0	0	0	1	0	0	0	17166	856	30	4	126	4	USP33	1	78163125	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	15833172	78163125	171087496	6	45759											
FCRL5	83416	broad.mit.edu	37	chr1	157516958	157516958	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactgtggtccatggaggctGgaggaaaataatgggcctgg	10	8	17	6	0	0	0	0	0	0	0	1	4	1	3	2	7	0	1	2	7	3	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:157516958G>A	ENST00000361835.3	-	3	239	c.82C>T	c.(82-84)Cag>Tag	p.Q28*	FCRL5_ENST00000356953.4_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368190.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368189.3_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368188.2_Nonsense_Mutation_p.Q28*|FCRL5_ENST00000368191.3_Intron	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	28	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CATGGAGGCTGGAGGAAAATA	0.537													A	157516958	G	A	157516958	4	1	502	1	0	0	0	0	0	1	0	0	5847	1357	47	2	2911	2	FCRL5	1	157516958	Nonsense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	79353833	157516958	91733663	7	45760											
LAMC2	3918	broad.mit.edu	37	chr1	183192355	183192355	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggcagacacccatcTgcccatgatgtgattctgga	11	8	12	10	0	2	4	0	2	2	2	2	6	2	6	2	3	1	1	2	3	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:183192355T>A	ENST00000264144.4	+	7	914	c.849T>A	c.(847-849)tcT>tcA	p.S283S	LAMC2_ENST00000493293.1_Silent_p.S283S	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	283	Laminin IV type A.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						GACACCCATCTGCCCATGATG	0.507													A	183192355	T	A	183192355	2	1	502	1	0	0	0	0	0	0	0	1	8674	1567	55	5		5	LAMC2	1	183192355	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	25675397	183192355	66058266	8	45761											
F13B	2165	broad.mit.edu	37	chr1	197029657	197029657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cattttcaattaatcttaaaGaagagcactttaattctgca	15	15	4	7	0	3	2	1	0	2	2	3	2	3	2	0	0	2	2	0	0	6	7			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:197029657G>A	ENST00000367412.1	-	5	687	c.644C>T	c.(643-645)tCt>tTt	p.S215F		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	215	Sushi 4.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TAATCTTAAAGAAGAGCACTT	0.264													A	197029657	G	A	197029657	3	1	502	1	0	0	0	0	1	0	0	0	5383	942	33	2	1373	2	F13B	1	197029657	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	13837302	197029657	52220964	9	45762											
GPR37L1	9283	broad.mit.edu	37	chr1	202097469	202097469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttcttcaagggcgccAtcaccccagtgctgctcctt	6	10	7	18	1	3	0	2	0	1	0	4	0	4	0	6	1	2	2	6	1	1	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr1:202097469A>G	ENST00000367282.5	+	2	1337	c.1231A>G	c.(1231-1233)Atc>Gtc	p.I411V		NM_004767.3	NP_004758.3	O60883	ETBR2_HUMAN	G protein-coupled receptor 37 like 1							integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)	18						CAAGGGCGCCATCACCCCAGT	0.647													G	202097469	A	G	202097469	3	3	502	1	0	0	0	0	1	0	0	0	6746	217	8	3	1237	3	GPR37L1	1	202097469	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	5067812	202097469	47153152	10	45763											
C2orf70	339778	broad.mit.edu	37	chr2	26798818	26798818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcctttggcgctccctaCggcaccaccaccctcaagta	7	10	6	18	2	2	0	1	0	1	0	4	0	3	0	5	2	1	3	5	2	3	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:26798818C>T	ENST00000409392.1	+	3	187	c.85C>T	c.(85-87)Cgg>Tgg	p.R29W	C2orf70_ENST00000329615.3_Silent_p.Y41Y			A6NJV1	CB070_HUMAN	chromosome 2 open reading frame 70	147										breast(3)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	13						GCGCTCCCTACGGCACCACCA	0.627													T	26798818	C	T	26798818	3	4	502	1	0	0	0	0	1	0	0	0	2211	547	19	1	129	1	C2orf70	2	26798818	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		26798818	216400555	11	45764											
ANAPC1	64682	broad.mit.edu	37	chr2	112536312	112536312	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgggtaacacattcataGagtactgaagaaaagagatc	16	9	9	7	0	1	4	1	1	0	3	3	5	2	4	1	1	2	2	1	1	6	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:112536312G>C	ENST00000341068.3	-	45	6097	c.5325C>G	c.(5323-5325)ctC>ctG	p.L1775L		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	1775					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						CACATTCATAGAGTACTGAAG	0.373													C	112536312	G	C	112536312	2	2	502	1	0	0	0	0	0	0	0	1	598	929	33	4		4	ANAPC1	2	112536312	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	85737494	112536312	130663061	12	45765											
LRP2	4036	broad.mit.edu	37	chr2	170068686	170068686	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctgacaggcattcatgttGttgctacagccatttgagga	9	13	11	8	0	1	2	1	2	0	0	1	3	1	3	1	2	4	5	1	2	1	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:170068686G>T	ENST00000263816.3	-	37	6357	c.6072C>A	c.(6070-6072)aaC>aaA	p.N2024K		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2024	EGF-like 8.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CATTCATGTTGTTGCTACAGC	0.443													T	170068686	G	T	170068686	3	4	502	1	0	0	0	0	1	0	0	0	9026	1368	48	4	8067	4	LRP2	2	170068686	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	57532374	170068686	73130687	13	45766											
TTN	7273	broad.mit.edu	37	chr2	179639178	179639178	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acttctatgtcctgaagttcTttcacaaactcaacaactgc	12	13	4	12	0	4	1	2	1	2	0	5	1	5	1	1	0	4	1	1	0	5	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:179639178T>A	ENST00000589042.1	-	30	7037	c.6813A>T	c.(6811-6813)aaA>aaT	p.K2271N	TTN_ENST00000360870.5_Missense_Mutation_p.K2271N|TTN-AS1_ENST00000584485.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K2225N|TTN_ENST00000342992.6_Missense_Mutation_p.K2271N|TTN_ENST00000591111.1_Missense_Mutation_p.K2271N|TTN_ENST00000460472.2_Missense_Mutation_p.K2225N|TTN_ENST00000359218.5_Missense_Mutation_p.K2225N	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1995	Ig-like 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAGTTCTTTCACAAACT	0.353													A	179639178	T	A	179639178	3	1	502	1	0	0	0	0	1	0	0	0	16837	1606	56	5	104507	5	TTN	2	179639178	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	9570492	179639178	63560195	14	45767											
NBEAL1	65065	broad.mit.edu	37	chr2	204013825	204013825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactcttagacgctggaaaGcaatacagctctatcttaca	13	10	6	12	1	3	1	0	0	3	1	3	2	3	2	1	1	4	3	1	1	6	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:204013825G>C	ENST00000449802.1	+	33	5662	c.5329G>C	c.(5329-5331)Gca>Cca	p.A1777P		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	1777							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACGCTGGAAAGCAATACAGCT	0.388													C	204013825	G	C	204013825	3	2	502	1	0	0	0	0	1	0	0	0	10264	971	34	4	5455	4	NBEAL1	2	204013825	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	24374647	204013825	39185548	15	45768											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	502	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	5099287	209113112	34086261	16	45769											
FN1	2335	broad.mit.edu	37	chr2	216292953	216292953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcacacttccactctcctCggccgttgcctgtgcagatg	5	12	8	16	2	2	1	1	0	2	1	6	1	3	1	4	1	2	2	4	1	0	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr2:216292953C>T	ENST00000354785.4	-	6	1163	c.794G>A	c.(793-795)cGa>cAa	p.R265Q	FN1_ENST00000446046.1_Missense_Mutation_p.R265Q|FN1_ENST00000443816.1_Missense_Mutation_p.R265Q|FN1_ENST00000356005.4_Missense_Mutation_p.R265Q|FN1_ENST00000336916.4_Missense_Mutation_p.R265Q|FN1_ENST00000323926.6_Missense_Mutation_p.R265Q|FN1_ENST00000432072.2_Missense_Mutation_p.R265Q|FN1_ENST00000359671.1_Missense_Mutation_p.R265Q|FN1_ENST00000345488.5_Missense_Mutation_p.R265Q|FN1_ENST00000346544.3_Missense_Mutation_p.R265Q|FN1_ENST00000426059.1_Missense_Mutation_p.R265Q|FN1_ENST00000357009.2_Missense_Mutation_p.R265Q|FN1_ENST00000421182.1_Missense_Mutation_p.R265Q|FN1_ENST00000357867.4_Missense_Mutation_p.R265Q			P02751	FINC_HUMAN	fibronectin 1	265	Fibrin- and heparin-binding 1.|Fibronectin type-I 5.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCACTCTCCTCGGCCGTTGCC	0.552													T	216292953	C	T	216292953	3	4	502	1	0	0	0	0	1	0	0	0	6011	884	31	1	6836	1	FN1	2	216292953	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	7179841	216292953	26906420	17	45770											
TMEM43	79188	broad.mit.edu	37	chr3	14177320	14177320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaccaggtcactgtgattgCccggcagcggggtgaccagc	7	7	15	12	2	1	3	1	3	0	0	1	3	1	3	3	4	3	1	3	4	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:14177320C>T	ENST00000306077.4	+	10	1048	c.794C>T	c.(793-795)gCc>gTc	p.A265V	RP11-434D12.1_ENST00000608606.1_Silent_p.C10C	NM_024334.2	NP_077310.1	Q9BTV4	TMM43_HUMAN	transmembrane protein 43	265						endoplasmic reticulum|Golgi apparatus|integral to membrane|nuclear inner membrane				breast(1)|cervix(3)|endometrium(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(2)	19						ACTGTGATTGCCCGGCAGCGG	0.632													T	14177320	C	T	14177320	3	4	502	1	0	0	0	0	1	0	0	0	16267	739	26	2	832	2	TMEM43	3	14177320	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		14177320	183845110	18	45771											
SETD2	29072	broad.mit.edu	37	chr3	47143009	47143009	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaggaaccagtttggtggTaaaaaacccaaccctcagtt	14	9	9	9	0	1	1	1	1	0	0	1	2	1	2	3	3	3	3	3	3	6	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:47143009T>G	ENST00000409792.3	-	8	4996	c.4954A>C	c.(4954-4956)Acc>Ccc	p.T1652P		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1652	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		AGTTTGGTGGTAAAAAACCCA	0.398			"N, F, S, Mis"		clear cell renal carcinoma								G	47143009	T	G	47143009	3	3	502	1	0	0	0	0	1	0	0	0	14224	1638	57	5	2796	5	SETD2	3	47143009	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	32965689	47143009	150879421	19	45772											
CEP70	80321	broad.mit.edu	37	chr3	138290122	138290122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattacctttgagatctgttCttttgactagagacaaaggt	12	15	8	6	0	2	3	0	2	2	2	2	5	2	3	1	1	1	1	1	1	4	6			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr3:138290122C>T	ENST00000264982.3	-	4	412	c.146G>A	c.(145-147)aGa>aAa	p.R49K	CEP70_ENST00000481834.1_Missense_Mutation_p.R49K|CEP70_ENST00000464035.1_Missense_Mutation_p.R49K|CEP70_ENST00000542237.1_Missense_Mutation_p.R29K|CEP70_ENST00000489254.1_Intron|CEP70_ENST00000478673.1_5'UTR|CEP70_ENST00000484888.1_Missense_Mutation_p.R49K	NM_024491.2	NP_077817.2	Q8NHQ1	CEP70_HUMAN	centrosomal protein 70kDa	49					G2/M transition of mitotic cell cycle	centrosome|cytosol	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	24						GAGATCTGTTCTTTTGACTAG	0.303													T	138290122	C	T	138290122	3	4	502	1	0	0	0	0	1	0	0	0	3289	913	32	2	1707	2	CEP70	3	138290122	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	91147113	138290122	59732308	20	45773											
SYNPO2	171024	broad.mit.edu	37	chr4	119948345	119948345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgagagtgatccaggaaaGtgaagcaggagatgcgggac	13	6	17	5	1	0	4	0	3	0	2	1	8	1	6	1	3	2	2	1	3	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:119948345G>T	ENST00000307142.4	+	3	1017	c.821G>T	c.(820-822)aGt>aTt	p.S274I	SYNPO2_ENST00000429713.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000434046.2_Missense_Mutation_p.S274I|SYNPO2_ENST00000448416.2_Intron	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	274						nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						ATCCAGGAAAGTGAAGCAGGA	0.522													T	119948345	G	T	119948345	3	4	502	1	0	0	0	0	1	0	0	0	15554	1029	36	4	831	4	SYNPO2	4	119948345	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		119948345	71205931	21	45774											
TMEM144	55314	broad.mit.edu	37	chr4	159138562	159138562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttaatgccttaactggctggGcaagctcaaggtaattcaag	12	11	10	8	0	2	0	2	0	0	0	2	0	2	0	1	3	3	4	1	3	6	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr4:159138562G>A	ENST00000514558.1	+	4	2118	c.322G>A	c.(322-324)Gca>Aca	p.A108T	TMEM144_ENST00000296529.6_Missense_Mutation_p.A108T			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	108						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		AACTGGCTGGGCAAGCTCAAG	0.383													A	159138562	G	A	159138562	3	1	502	1	0	0	0	0	1	0	0	0	16158	1203	42	2	332	2	TMEM144	4	159138562	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	39190217	159138562	32015714	22	45775											
IL7R	3575	broad.mit.edu	37	chr5	35871310	35871310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaaggatgaaaacaaaTggacggtatgtagttcaact	18	8	11	4	1	1	1	1	1	0	0	1	4	1	4	0	4	2	3	0	4	8	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:35871310T>C	ENST00000303115.3	+	4	661	c.532T>C	c.(532-534)Tgg>Cgg	p.W178R	IL7R_ENST00000506850.1_Missense_Mutation_p.W178R|IL7R_ENST00000343305.4_Missense_Mutation_p.W178R	NM_002185.3	NP_002176.2	P16871	IL7RA_HUMAN	interleukin 7 receptor	178	Fibronectin type-III.				immune response|regulation of DNA recombination	extracellular region|integral to membrane	antigen binding|interleukin-7 receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(78)|kidney(2)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|skin(5)|stomach(3)	126	all_lung(31;0.00015)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.187)|Colorectal(62;0.202)			TGAAAACAAATGGACGGTATG	0.358			"Mis, O"		"ALL, ETP ALL"		Severe combined immune deficiency						C	35871310	T	C	35871310	3	2	502	1	0	0	0	0	1	0	0	0	7763	1464	51	3	546	3	IL7R	5	35871310	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		35871310	145043950	23	45776											
MCC	4163	broad.mit.edu	37	chr5	112406798	112406798	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgtgtgcctacctgtactGcaaggccagcctcagcgctg	7	9	12	13	1	1	0	1	0	0	0	1	0	1	0	4	1	6	3	4	1	3	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112406798G>C	ENST00000302475.4	-	10	1911	c.1348C>G	c.(1348-1350)Cag>Gag	p.Q450E	MCC_ENST00000408903.3_Missense_Mutation_p.Q640E|MCC_ENST00000515367.2_Missense_Mutation_p.Q387E|MCC_ENST00000514701.3_5'UTR	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	450					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		TACCTGTACTGCAAGGCCAGC	0.478													C	112406798	G	C	112406798	3	2	502	1	0	0	0	0	1	0	0	0	9448	1328	46	4	1173	4	MCC	5	112406798	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	76535488	112406798	68508462	24	45777											
YTHDC2	64848	broad.mit.edu	37	chr5	112868625	112868625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaaatggtatcccctgccGtatattttgtactcaaccaa	13	13	5	10	1	1	0	1	0	0	0	2	0	2	0	4	1	3	3	4	1	9	7			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:112868625G>A	ENST00000161863.4	+	5	938	c.725G>A	c.(724-726)cGt>cAt	p.R242H	YTHDC2_ENST00000515883.1_Missense_Mutation_p.R242H	NM_022828.3	NP_073739.3	Q9H6S0	YTDC2_HUMAN	YTH domain containing 2	242	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			NS(2)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(13)|lung(10)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43		all_cancers(142;7.69e-05)|all_epithelial(76;6.42e-07)|Colorectal(10;0.00278)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Lung NSC(810;0.143)|all_lung(232;0.163)|Breast(839;0.244)		OV - Ovarian serous cystadenocarcinoma(64;7.2e-08)|Epithelial(69;8.83e-08)|all cancers(49;6.9e-06)|COAD - Colon adenocarcinoma(37;0.0458)|Colorectal(14;0.0594)		ATCCCCTGCCGTATATTTTGT	0.388													A	112868625	G	A	112868625	3	1	502	1	0	0	0	0	1	0	0	0	17599	1145	40	1	743	1	YTHDC2	5	112868625	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	461827	112868625	68046635	25	45778											
SLC36A2	153201	broad.mit.edu	37	chr5	150714964	150714964	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatggagaagatggtcaAgatcctgaggttccggatga	12	8	14	7	1	1	5	1	2	0	3	3	7	3	6	2	4	1	2	2	4	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:150714964A>G	ENST00000335244.4	-	6	799	c.670T>C	c.(670-672)Ttg>Ctg	p.L224L	SLC36A2_ENST00000521967.1_Silent_p.L224L	NM_181776.2	NP_861441.2	Q495M3	S36A2_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 2	224					cellular nitrogen compound metabolic process	cytoplasm|integral to membrane|plasma membrane	glycine transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(14)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAGATGGTCAAGATCCTGAGG	0.552													G	150714964	A	G	150714964	2	3	502	1	0	0	0	0	0	0	0	1	14688	69	3	3		3	SLC36A2	5	150714964	Silent	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	37846339	150714964	30200296	26	45779											
DDX41	51428	broad.mit.edu	37	chr5	176938907	176938907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgatgacccaggcccccgCagaaggcacagccgcgctct	8	4	11	18	4	1	2	0	1	1	1	2	3	2	2	5	2	1	3	5	2	1	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr5:176938907C>T	ENST00000507955.1	-	17	2277	c.1754G>A	c.(1753-1755)tGc>tAc	p.C585Y		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	585					apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			CAGGCCCCCGCAGAAGGCACA	0.642													T	176938907	C	T	176938907	3	4	502	1	0	0	0	0	1	0	0	0	4395	710	25	2	118	2	DDX41	5	176938907	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	26223943	176938907	3976353	27	45780											
HLA-DRA	3122	broad.mit.edu	37	chr6	32410365	32410365	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcttgaagaatttggaCgatttgccagctttgaggct	8	12	14	7	2	0	3	0	2	0	1	0	5	0	4	1	4	2	3	1	4	2	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:32410365C>T	ENST00000395388.2	+	2	332	c.223C>T	c.(223-225)Cga>Tga	p.R75*	HLA-DRA_ENST00000374982.5_Nonsense_Mutation_p.R75*	NM_019111.4	NP_061984.2	P01903	DRA_HUMAN	major histocompatibility complex, class II, DR alpha	75	Alpha-1.			R -> P (in Ref. 12; AA sequence).	antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|Golgi apparatus|integral to plasma membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19						AGAATTTGGACGATTTGCCAG	0.468									T-cell Lymphoma, (Cutaneous) , Familial Clustering of;Kaposi Sarcoma, Familial Clustering of				T	32410365	C	T	32410365	4	4	502	1	0	0	0	0	0	1	0	0	7262	528	19	1	229	1	HLA-DRA	6	32410365	Nonsense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		32410365	138704702	28	45781											
ITPR3	3710	broad.mit.edu	37	chr6	33625772	33625772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggtgcatggggatgtcGtgaagtatggcagtgtgatc	10	10	17	4	1	0	3	0	2	0	1	2	4	0	4	0	4	1	3	0	4	3	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:33625772G>A	ENST00000374316.5	+	5	1406	c.346G>A	c.(346-348)Gtg>Atg	p.V116M	ITPR3_ENST00000605930.1_Missense_Mutation_p.V116M			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	116	MIR 1.				activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGGGGATGTCGTGAAGTATGG	0.607													A	33625772	G	A	33625772	3	1	502	1	0	0	0	0	1	0	0	0	7980	1145	40	1	360	1	ITPR3	6	33625772	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	1215407	33625772	137489295	29	45782											
TINAG	27283	broad.mit.edu	37	chr6	54191661	54191661	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagaagatggttttaaatttCgccttggcactttgccacct	9	15	8	9	1	0	2	0	0	0	2	1	2	0	2	3	2	1	2	3	2	4	6	rs115438249	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:54191661C>T	ENST00000259782.4	+	4	667	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	TINAG_ENST00000370864.3_Missense_Mutation_p.R173C|TINAG_ENST00000370869.3_Missense_Mutation_p.R187C	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191C(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTTAAATTTCGCCTTGGCAC	0.373													T	54191661	C	T	54191661	3	4	502	1	0	0	0	0	1	0	0	0	16021	884	31	1	585	1	TINAG	6	54191661	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	20565889	54191661	116923406	30	45783											
COL21A1	81578	broad.mit.edu	37	chr6	56006596	56006596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttaccttgtcaccatctCgccctggttctcctttgtaa	5	17	6	13	1	3	0	1	0	2	0	5	0	3	0	4	1	1	3	4	1	2	6			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:56006596C>T	ENST00000244728.5	-	12	1926	c.1529G>A	c.(1528-1530)cGa>cAa	p.R510Q	COL21A1_ENST00000535941.1_Missense_Mutation_p.R510Q|COL21A1_ENST00000370819.1_Missense_Mutation_p.R507Q	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	510					cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCACCATCTCGCCCTGGTTC	0.368													T	56006596	C	T	56006596	3	4	502	1	0	0	0	0	1	0	0	0	3711	884	31	1	1420	1	COL21A1	6	56006596	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1814935	56006596	115108471	31	45784											
ZBTB24	9841	broad.mit.edu	37	chr6	109787072	109787072	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagctctgctcctggccAagtggcgttggctggggcac	4	9	16	12	1	2	0	1	0	1	0	3	0	3	0	2	6	2	5	2	6	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr6:109787072A>T	ENST00000230122.3	-	7	2243	c.2076T>A	c.(2074-2076)ctT>ctA	p.L692L	MICAL1_ENST00000368952.4_5'UTR	NM_001164313.1|NM_014797.2	NP_001157785.1|NP_055612.2	O43167	ZBT24_HUMAN	zinc finger and BTB domain containing 24	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0154)|all cancers(137;0.0216)|OV - Ovarian serous cystadenocarcinoma(136;0.0242)|BRCA - Breast invasive adenocarcinoma(108;0.059)		GCTCCTGGCCAAGTGGCGTTG	0.537													T	109787072	A	T	109787072	2	4	502	1	0	0	0	0	0	0	0	1	17632	117	5	5		5	ZBTB24	6	109787072	Silent	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	53780476	109787072	61327995	32	45785											
STAG3L2	442582	broad.mit.edu	37	chr7	74306348	74306349	+	RNA	INS	-	-	GCC																															ggcacccgggccagcacccgINSgccgccgcgcgtgcgcagtg																										TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr7:74306348_74306349insGCC	ENST00000423186.1	-	0	296							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						GCCAGCACCCGGCCGCCGCGCG	0.752													GCC	74306349	-	GCC	74306348	6	5	502	0	1	1	1	0	0	0	0	0	15341	1131	39	0		0	STAG3L2	7	74306348	RNA	INS	-	TCGA-FG-A6J3-01A-11D-A31L-08		74306348	84832315	33	45786											
ADAM9	8754	broad.mit.edu	37	chr8	38934858	38934858	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccaaatgttggggtgtGgatttccagctaggatcaga	10	10	14	7	0	1	1	1	0	0	1	2	3	2	3	2	5	1	3	2	5	2	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:38934858G>A	ENST00000487273.2	+	16	1887	c.1809G>A	c.(1807-1809)gtG>gtA	p.V603V	ADAM9_ENST00000484143.1_3'UTR	NM_003816.2	NP_003807.1	Q13443	ADAM9_HUMAN	ADAM metallopeptidase domain 9	603	Cys-rich.				activation of MAPKK activity|cell-cell adhesion mediated by integrin|cell-matrix adhesion|keratinocyte differentiation|monocyte activation|PMA-inducible membrane protein ectodomain proteolysis|positive regulation of cell adhesion mediated by integrin|positive regulation of keratinocyte migration|positive regulation of macrophage fusion|positive regulation of membrane protein ectodomain proteolysis|positive regulation of protein secretion|response to calcium ion|response to glucocorticoid stimulus|response to hydrogen peroxide|response to manganese ion|response to tumor necrosis factor|transforming growth factor beta receptor signaling pathway	extracellular space|integral to membrane|intrinsic to external side of plasma membrane	collagen binding|integrin binding|laminin binding|metalloendopeptidase activity|protein kinase C binding|SH3 domain binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.0153)	LUSC - Lung squamous cell carcinoma(45;2.74e-07)			GTTGGGGTGTGGATTTCCAGC	0.413													A	38934858	G	A	38934858	2	1	502	1	0	0	0	0	0	0	0	1	253	1335	47	2		2	ADAM9	8	38934858	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		38934858	107429164	34	45787											
PKHD1L1	93035	broad.mit.edu	37	chr8	110418625	110418625	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccttgaatgacctctggtcTataaaaccggacacagttca	12	10	8	11	1	3	2	1	2	2	0	3	3	3	3	3	2	1	1	3	2	4	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110418625T>A	ENST00000378402.5	+	17	1835	c.1731T>A	c.(1729-1731)tcT>tcA	p.S577S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	577					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACCTCTGGTCTATAAAACCGG	0.363										HNSCC(38;0.096)			A	110418625	T	A	110418625	2	1	502	1	0	0	0	0	0	0	0	1	12049	1509	53	5		5	PKHD1L1	8	110418625	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	71483767	110418625	35945397	35	45788											
PKHD1L1	93035	broad.mit.edu	37	chr8	110498956	110498956	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atactgagtaggaacatcaaAatagttggtgaagattaccc	16	10	9	6	0	1	3	1	2	0	1	1	4	1	4	1	2	3	2	1	2	8	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:110498956A>T	ENST00000378402.5	+	59	9890	c.9786A>T	c.(9784-9786)aaA>aaT	p.K3262N		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3262					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GGAACATCAAAATAGTTGGTG	0.448										HNSCC(38;0.096)			T	110498956	A	T	110498956	3	4	502	1	0	0	0	0	1	0	0	0	12049	11	1	5	10020	5	PKHD1L1	8	110498956	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	80331	110498956	35865066	36	45789											
KCNQ3	3786	broad.mit.edu	37	chr8	133198389	133198389	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatactccttgaatgtggtCaggacagccagaatcaagca	13	9	9	10	0	3	2	3	1	0	1	4	3	4	3	2	2	3	1	2	2	4	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr8:133198389C>A	ENST00000388996.4	-	2	846	c.426G>T	c.(424-426)ctG>ctT	p.L142L	KCNQ3_ENST00000519445.1_Silent_p.L142L|KCNQ3_ENST00000521134.1_Silent_p.L22L	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	142					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGAATGTGGTCAGGACAGCCA	0.483													A	133198389	C	A	133198389	2	1	502	1	0	0	0	0	0	0	0	1	8142	813	29	4		4	KCNQ3	8	133198389	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	22699433	133198389	13165633	37	45790											
PTPDC1	138639	broad.mit.edu	37	chr9	96859752	96859752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtttctaactcctctcCgcaatatattctcttgctgt	7	17	4	13	1	4	0	1	0	3	0	7	0	5	0	2	0	2	3	2	0	4	6			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:96859752C>T	ENST00000375360.3	+	7	1082	c.742C>T	c.(742-744)Cgc>Tgc	p.R248C	PTPDC1_ENST00000288976.3_Missense_Mutation_p.R300C	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	248							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						AACTCCTCTCCGCAATATATT	0.453													T	96859752	C	T	96859752	3	4	502	1	0	0	0	0	1	0	0	0	12859	652	23	1	1006	1	PTPDC1	9	96859752	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		96859752	44353679	38	45791											
CAMSAP1	157922	broad.mit.edu	37	chr9	138710933	138710933	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctcctcggccttgcgctgCtgcttcaggaggaaggccgc	4	8	14	15	3	1	0	1	0	0	0	3	2	2	2	4	4	3	3	4	4	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr9:138710933C>G	ENST00000389532.4	-	12	3946	c.3882G>C	c.(3880-3882)caG>caC	p.Q1294H	CAMSAP1_ENST00000409386.3_Missense_Mutation_p.Q1305H|CAMSAP1_ENST00000312405.6_Missense_Mutation_p.Q1016H|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1294						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCTTGCGCTGCTGCTTCAGGA	0.647													G	138710933	C	G	138710933	3	3	502	1	0	0	0	0	1	0	0	0	2637	796	28	4	950	4	CAMSAP1	9	138710933	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	41851181	138710933	2502498	39	45792											
KIAA1217	56243	broad.mit.edu	37	chr10	24508622	24508622	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccgcagaaccaaggaacgCctttctaatggaaacagtcg	13	7	10	11	3	1	1	0	0	1	1	2	3	1	3	3	2	4	1	3	2	5	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:24508622C>T	ENST00000376454.3	+	2	168	c.138C>T	c.(136-138)cgC>cgT	p.R46R	KIAA1217_ENST00000376462.1_5'UTR|KIAA1217_ENST00000458595.1_Silent_p.R46R|KIAA1217_ENST00000376452.3_Silent_p.R46R	NM_019590.3	NP_062536.2	Q5T5P2	SKT_HUMAN	KIAA1217	46					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CCAAGGAACGCCTTTCTAATG	0.463													T	24508622	C	T	24508622	2	4	502	1	0	0	0	0	0	0	0	1	8274	726	26	2		2	KIAA1217	10	24508622	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		24508622	111026125	40	45793											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508105	37508105	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctaaaactgaaagaggaAtcattaactaaaagggcatc	19	7	7	8	0	1	2	1	1	0	1	2	3	1	3	1	2	2	1	1	2	7	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508105A>T	ENST00000374660.1	+	40	3753	c.3654A>T	c.(3652-3654)gaA>gaT	p.E1218D	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E1099D|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E1099D			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1170						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TGAAAGAGGAATCATTAACTA	0.338													T	37508105	A	T	37508105	3	4	502	1	0	0	0	0	1	0	0	0	658	98	4	5	3431	5	ANKRD30A	10	37508105	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	12999483	37508105	98026642	41	45794											
ANKRD30A	91074	broad.mit.edu	37	chr10	37508389	37508389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataacaatgaggtgctccAtcaaccactttctgaagctc	13	11	6	11	0	2	2	1	2	1	0	4	2	3	2	2	1	4	2	2	1	5	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:37508389A>G	ENST00000374660.1	+	40	4037	c.3938A>G	c.(3937-3939)cAt>cGt	p.H1313R	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.H1194R|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.H1194R			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1250						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGGTGCTCCATCAACCACTT	0.358													G	37508389	A	G	37508389	3	3	502	1	0	0	0	0	1	0	0	0	658	217	8	3	3715	3	ANKRD30A	10	37508389	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	284	37508389	98026358	42	45795											
OGDHL	55753	broad.mit.edu	37	chr10	50950920	50950920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctgagccgcacgtggaTgccttccttcagcagggagc	6	7	13	15	3	1	1	1	1	0	0	2	3	2	3	4	2	4	3	4	2	0	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:50950920T>C	ENST00000374103.4	-	15	2051	c.1966A>G	c.(1966-1968)Atc>Gtc	p.I656V	OGDHL_ENST00000432695.1_Missense_Mutation_p.I447V|OGDHL_ENST00000419399.1_Missense_Mutation_p.I599V	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	656					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						CGCACGTGGATGCCTTCCTTC	0.642													C	50950920	T	C	50950920	3	2	502	1	0	0	0	0	1	0	0	0	10916	1464	51	3	1102	3	OGDHL	10	50950920	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	13442531	50950920	84583827	43	45796											
PLCE1	51196	broad.mit.edu	37	chr10	96018841	96018841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcaaccgatctggctccGagtcagccccactctacacc	8	7	7	19	2	3	0	1	0	2	0	4	2	4	0	6	1	4	2	6	1	2	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:96018841G>A	ENST00000371380.3	+	12	3983	c.3748G>A	c.(3748-3750)Gag>Aag	p.E1250K	PLCE1_ENST00000371375.1_Missense_Mutation_p.E942K|PLCE1_ENST00000371385.3_Missense_Mutation_p.E942K|PLCE1_ENST00000260766.3_Missense_Mutation_p.E1250K			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1						activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity	p.E942*(1)|p.E1250*(1)		liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				ATCTGGCTCCGAGTCAGCCCC	0.483													A	96018841	G	A	96018841	3	1	502	1	0	0	0	0	1	0	0	0	12111	1059	37	1	4080	1	PLCE1	10	96018841	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	45067921	96018841	39515906	44	45797											
TACC2	10579	broad.mit.edu	37	chr10	123848117	123848117	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagaaaggtcagcgaaaGatattggtctttggaaggcc	14	8	13	6	1	2	2	1	0	1	2	2	5	2	3	1	4	2	0	1	4	5	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:123848117G>T	ENST00000515273.1	+	5	5912	c.5584G>T	c.(5584-5586)Gat>Tat	p.D1862Y	TACC2_ENST00000334433.3_Intron|TACC2_ENST00000515603.1_Intron|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000369005.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.D1862Y			O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1859						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				GTCAGCGAAAGATATTGGTCT	0.443													T	123848117	G	T	123848117	3	4	502	1	0	0	0	0	1	0	0	0	15599	957	33	4		4	TACC2	10	123848117	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	27829276	123848117	11686630	45	45798											
C10orf137	26098	broad.mit.edu	37	chr10	127434378	127434378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaattgaggatgccaccaAtgccgcccttttattatgta	11	13	7	10	1	1	1	1	1	0	0	1	2	1	2	4	1	2	1	4	1	5	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr10:127434378A>G	ENST00000337623.3	+	18	2696	c.2591A>G	c.(2590-2592)aAt>aGt	p.N864S	RP11-383C5.7_ENST00000594025.1_RNA|C10orf137_ENST00000356792.4_Missense_Mutation_p.N898S|RP11-383C5.7_ENST00000593871.1_RNA|RP11-383C5.7_ENST00000600784.1_RNA|RP11-383C5.7_ENST00000449436.1_RNA|RP11-383C5.7_ENST00000602030.1_RNA	NM_015608.2	NP_056423.2	Q3B7T1	EDRF1_HUMAN	chromosome 10 open reading frame 137	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(12)|lung(20)|ovary(8)|pancreas(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	61		all_lung(145;0.0096)|Lung NSC(174;0.0145)|Colorectal(57;0.0846)|all_neural(114;0.0936)				GATGCCACCAATGCCGCCCTT	0.453													G	127434378	A	G	127434378	3	3	502	1	0	0	0	0	1	0	0	0	1605	101	4	3	2661	3	C10orf137	10	127434378	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	3586261	127434378	8100369	46	45799											
MUC2	4583	broad.mit.edu	37	chr11	1081657	1081657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggcccctcaggcctctgcGggaacttcaacggcctggaa	7	7	12	15	2	3	0	2	0	1	0	3	2	3	2	4	5	3	0	4	5	3	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:1081657G>A	ENST00000441003.2	+	13	1612	c.1585G>A	c.(1585-1587)Ggg>Agg	p.G529R	MUC2_ENST00000359061.5_Missense_Mutation_p.G529R	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	529	VWFD 2.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCCTCTGCGGGAACTTCAA	0.667													A	1081657	G	A	1081657	3	1	502	1	0	0	0	0	1	0	0	0	10051	1116	39	1	1635	1	MUC2	11	1081657	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		1081657	133924859	47	45800											
OR51B5	282763	broad.mit.edu	37	chr11	5364717	5364717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaagcctggaaaaccaGtcaataggaagggatgggag	14	5	13	9	0	1	0	1	0	0	0	2	4	2	4	4	4	2	0	4	4	6	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:5364717G>A	ENST00000300773.2	-	1	92	c.38C>T	c.(37-39)aCt>aTt	p.T13I	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGAAAACCAGTCAATAGGAA	0.443													A	5364717	G	A	5364717	3	1	502	1	0	0	0	0	1	0	0	0	11167	1029	36	2	904	2	OR51B5	11	5364717	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	4283060	5364717	129641799	48	45801											
RBMXL2	27288	broad.mit.edu	37	chr11	7111318	7111318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatgcctacagcggcggcCgcgacagttacagcagcagt	9	5	13	14	5	0	0	0	0	0	0	0	2	0	0	3	2	6	3	3	2	2	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:7111318C>T	ENST00000306904.5	+	1	1154	c.967C>T	c.(967-969)Cgc>Tgc	p.R323C		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	323	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CAGCGGCGGCCGCGACAGTTA	0.682													T	7111318	C	T	7111318	3	4	502	1	0	0	0	0	1	0	0	0	13242	652	23	1	969	1	RBMXL2	11	7111318	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1746601	7111318	127895198	49	45802											
OR4A5	81318	broad.mit.edu	37	chr11	51412112	51412112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctataaatagctggcccatgCaaccttggaaggaaatagtc	14	9	9	9	0	0	0	0	0	0	0	1	2	0	2	2	3	3	2	2	3	8	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:51412112C>A	ENST00000319760.6	-	1	336	c.284G>T	c.(283-285)tGc>tTc	p.C95F		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	95					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.C95S(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				CTGGCCCATGCAACCTTGGAA	0.453													A	51412112	C	A	51412112	3	1	502	1	0	0	0	0	1	0	0	0	11119	710	25	4	667	4	OR4A5	11	51412112	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	44300794	51412112	83594404	50	45803											
CTNND1	1500	broad.mit.edu	37	chr11	57563185	57563185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagatgatgggaccactcGgcgcacagagaccacggtaa	12	5	12	12	3	1	3	1	1	0	2	2	5	1	4	2	3	0	2	2	3	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:57563185G>A	ENST00000524630.1	+	5	917	c.404G>A	c.(403-405)cGg>cAg	p.R135Q	CTNND1_ENST00000532787.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000358694.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000528621.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000399039.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000530094.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000532245.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000532844.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000528232.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000399050.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000532463.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000361796.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000428599.2_Missense_Mutation_p.R135Q|CTNND1_ENST00000529526.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000526938.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000529873.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000361332.4_Missense_Mutation_p.R135Q|CTNND1_ENST00000529986.1_Missense_Mutation_p.R34Q|CTNND1_ENST00000530748.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000527467.1_Intron|CTNND1_ENST00000529919.1_Missense_Mutation_p.R135Q|CTNND1_ENST00000532649.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000526357.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000361391.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000415361.2_Missense_Mutation_p.R34Q|CTNND1_ENST00000360682.6_Missense_Mutation_p.R135Q|CTNND1_ENST00000534579.1_Missense_Mutation_p.R81Q|CTNND1_ENST00000426142.2_Missense_Mutation_p.R34Q			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	135					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				GGGACCACTCGGCGCACAGAG	0.507													A	57563185	G	A	57563185	3	1	502	1	0	0	0	0	1	0	0	0	4052	1116	39	1	414	1	CTNND1	11	57563185	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	6151073	57563185	77443331	51	45804											
RTN3	10313	broad.mit.edu	37	chr11	63487398	63487398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagtggttttacctgatgAccacctgaaagatgaaatgg	14	10	11	6	0	0	5	0	4	0	1	0	6	0	5	3	2	1	1	3	2	4	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr11:63487398A>G	ENST00000377819.5	+	3	1578	c.1424A>G	c.(1423-1425)gAc>gGc	p.D475G	RTN3_ENST00000540798.1_Missense_Mutation_p.D363G|RTN3_ENST00000537981.1_Intron|RTN3_ENST00000354497.4_Intron|RTN3_ENST00000339997.4_Missense_Mutation_p.D456G|RTN3_ENST00000341307.2_Intron|RTN3_ENST00000356000.3_Intron	NM_001265589.1	NP_001252518.1	O95197	RTN3_HUMAN	reticulon 3	475					apoptosis|endoplasmic reticulum tubular network organization|interspecies interaction between organisms|response to stress|vesicle-mediated transport	endoplasmic reticulum membrane|extracellular space|Golgi membrane|integral to membrane				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	20						TTACCTGATGACCACCTGAAA	0.458													G	63487398	A	G	63487398	3	3	502	1	0	0	0	0	1	0	0	0	13818	275	10	3	1434	3	RTN3	11	63487398	Missense_Mutation	SNP	A	TCGA-FG-A6J3-01A-11D-A31L-08	5924213	63487398	71519118	52	45805											
FGF6	2251	broad.mit.edu	37	chr12	4543495	4543495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccttggtacaagtctgactcGtaggcattgtaattgttggg	8	14	12	7	1	1	1	0	1	1	0	2	1	1	1	1	3	1	5	1	3	4	7			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:4543495G>A	ENST00000228837.2	-	3	556	c.513C>T	c.(511-513)taC>taT	p.Y171Y		NM_020996.1	NP_066276.2	P10767	FGF6_HUMAN	fibroblast growth factor 6	171					angiogenesis|cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	growth factor activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20			Colorectal(7;0.00165)|COAD - Colon adenocarcinoma(12;0.0229)			AGTCTGACTCGTAGGCATTGT	0.517													A	4543495	G	A	4543495	2	1	502	1	0	0	0	0	0	0	0	1	5905	1140	40	1		1	FGF6	12	4543495	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		4543495	129308400	53	45806											
CD163L1	283316	broad.mit.edu	37	chr12	7521536	7521536	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagaagactatacctgaggaGgcattcagtgatttcagcga	13	9	11	8	1	2	4	2	2	0	2	2	6	2	5	1	2	2	1	1	2	3	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:7521536G>T	ENST00000313599.3	-	16	4122	c.4065C>A	c.(4063-4065)gcC>gcA	p.A1355A	CD163L1_ENST00000416109.2_Silent_p.A1365A|CD163L1_ENST00000396630.1_Silent_p.A1355A			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1355						extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TACCTGAGGAGGCATTCAGTG	0.443													T	7521536	G	T	7521536	2	4	502	1	0	0	0	0	0	0	0	1	2998	987	35	4		4	CD163L1	12	7521536	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2978041	7521536	126330359	54	45807											
A2M	2	broad.mit.edu	37	chr12	9243855	9243855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtgtgaaggcctctccaCgaatcacagagtaaggcatt	12	9	11	9	1	2	3	1	2	1	1	3	4	2	3	2	2	0	2	2	2	3	2	rs117138141	by1000genomes	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr12:9243855C>G	ENST00000318602.7	-	19	2718	c.2411G>C	c.(2410-2412)cGt>cCt	p.R804P		NM_000014.4	NP_000005	P01023	A2MG_HUMAN	alpha-2-macroglobulin	804					blood coagulation, intrinsic pathway|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|extracellular space|platelet alpha granule lumen	enzyme binding|GTPase activator activity|interleukin-1 binding|interleukin-8 binding|serine-type endopeptidase inhibitor activity|tumor necrosis factor binding			breast(1)|central_nervous_system(6)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(17)|lung(30)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	77					Bacitracin(DB00626)|Becaplermin(DB00102)	GGCCTCTCCACGAATCACAGA	0.493													G	9243855	C	G	9243855	3	3	502	1	0	0	0	0	1	0	0	0	4	536	19	4	2085	4	A2M	12	9243855	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1722319	9243855	124608040	55	45808											
TBC1D4	9882	broad.mit.edu	37	chr13	75884224	75884224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagacaggaatacaaccagcGgttcctcctccatggttgga	11	8	10	12	1	0	1	0	0	0	1	3	3	3	3	4	4	3	2	4	4	3	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr13:75884224G>A	ENST00000377636.3	-	14	2793	c.2447C>T	c.(2446-2448)cCg>cTg	p.P816L	TBC1D4_ENST00000431480.2_Missense_Mutation_p.P808L|TBC1D4_ENST00000377625.2_Missense_Mutation_p.P753L|TBC1D4_ENST00000425511.1_Missense_Mutation_p.P33L	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	816						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TACAACCAGCGGTTCCTCCTC	0.488													A	75884224	G	A	75884224	3	1	502	1	0	0	0	0	1	0	0	0	15722	1116	39	1	1481	1	TBC1D4	13	75884224	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		75884224	39285654	56	45809											
RYR3	6263	broad.mit.edu	37	chr15	33955020	33955020	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcatagtgcggggacagaGgagggagcagaaaaggagga	15	2	20	4	1	0	2	0	0	0	2	0	8	0	7	0	6	3	2	0	6	3	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:33955020G>A	ENST00000389232.4	+	35	5359	c.5289G>A	c.(5287-5289)gaG>gaA	p.E1763E	RYR3_ENST00000415757.3_Silent_p.E1763E	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1763	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		CGGGGACAGAGGAGGGAGCAG	0.572													A	33955020	G	A	33955020	2	1	502	1	0	0	0	0	0	0	0	1	13861	991	35	2		2	RYR3	15	33955020	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		33955020	68576372	57	45810											
LRRK1	79705	broad.mit.edu	37	chr15	101528904	101528904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgccagcgagggcacctgGgggttgtgaagctcctggtc	5	9	16	11	1	0	1	0	1	0	0	2	2	1	1	3	4	3	3	3	4	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr15:101528904G>A	ENST00000284395.5	+	6	890	c.490G>A	c.(490-492)Ggg>Agg	p.G164R	LRRK1_ENST00000388948.3_Missense_Mutation_p.G167R|LRRK1_ENST00000532029.2_Missense_Mutation_p.G167R			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	167					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AGGGCACCTGGGGGTTGTGAA	0.622													A	101528904	G	A	101528904	3	1	502	1	0	0	0	0	1	0	0	0	9102	1232	43	2	513	2	LRRK1	15	101528904	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	67573884	101528904	1002488	58	45811											
ZSCAN10	84891	broad.mit.edu	37	chr16	3139706	3139706	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactgcggacaggcgtaggGcttctcgcccgtgtgcaccc	5	7	14	15	4	1	0	0	0	1	0	2	1	1	1	2	3	2	4	2	3	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139706G>C	ENST00000252463.2	-	5	1651	c.1564C>G	c.(1564-1566)Ccc>Gcc	p.P522A	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.P183A|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.P440A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	522					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CAGGCGTAGGGCTTCTCGCCC	0.716													C	3139706	G	C	3139706	3	2	502	1	0	0	0	0	1	0	0	0	18326	1203	42	4	617	4	ZSCAN10	16	3139706	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		3139706	87215047	59	45812			1	64		2	2	26	G		7.590954e-05
ZSCAN10	84891	broad.mit.edu	37	chr16	3139731	3139731	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcgcccgtgtgcacccgttgGtggctgaccagctgcgagct	4	9	14	14	4	0	1	0	1	0	0	1	2	0	1	3	2	4	5	3	2	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:3139731G>C	ENST00000252463.2	-	5	1626	c.1539C>G	c.(1537-1539)caC>caG	p.H513Q	ZSCAN10_ENST00000575108.1_Missense_Mutation_p.H174Q|ZSCAN10_ENST00000538082.2_Missense_Mutation_p.H431Q	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	513					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						GCACCCGTTGGTGGCTGACCA	0.711													C	3139731	G	C	3139731	3	2	502	1	0	0	0	0	1	0	0	0	18326	1252	44	4	642	4	ZSCAN10	16	3139731	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	25	3139731	87215022	60	45813			1	64		2	2	26	G		7.590954e-05
ZP2	7783	broad.mit.edu	37	chr16	21218255	21218255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgatacatgacagctccGtgtcttaaggcagcactgtt	11	11	9	10	1	1	2	0	2	1	0	2	2	2	2	1	1	4	4	1	1	3	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:21218255G>A	ENST00000574002.1	-	6	869	c.387C>T	c.(385-387)caC>caT	p.H129H	ZP2_ENST00000219593.4_Silent_p.H129H|ZP2_ENST00000574091.1_Silent_p.H129H			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	129					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGACAGCTCCGTGTCTTAAGG	0.478													A	21218255	G	A	21218255	2	1	502	1	0	0	0	0	0	0	0	1	18315	1136	40	1		1	ZP2	16	21218255	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	18078524	21218255	69136498	61	45814											
CHP2	63928	broad.mit.edu	37	chr16	23768869	23768869	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccttagagaagatggacGttgagcaaaaaatgagcatc	16	8	11	6	1	0	4	0	2	0	2	2	6	1	5	1	1	2	3	1	1	5	2	rs149498782	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:23768869G>T	ENST00000300113.2	+	7	979	c.556G>T	c.(556-558)Gtt>Ttt	p.V186F		NM_022097.2	NP_071380.1	O43745	CHP2_HUMAN	calcineurin-like EF-hand protein 2	186	EF-hand 4.						calcium ion binding			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|stomach(1)	9				GBM - Glioblastoma multiforme(48;0.0144)		GAAGATGGACGTTGAGCAAAA	0.522													T	23768869	G	T	23768869	3	4	502	1	0	0	0	0	1	0	0	0	3397	1145	40	4	582	4	CHP2	16	23768869	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2550614	23768869	66585884	62	45815											
DNAJA2	10294	broad.mit.edu	37	chr16	47001550	47001550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttggacagctccagactttCcgccttggctaaagcaagca	10	10	9	12	1	0	1	0	0	0	1	2	2	2	2	3	2	3	4	3	2	3	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:47001550C>T	ENST00000317089.5	-	5	667	c.452G>A	c.(451-453)gGa>gAa	p.G151E		NM_005880.3	NP_005871.1	O60884	DNJA2_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 2	151					positive regulation of cell proliferation|protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(2)|upper_aerodigestive_tract(1)	14		all_cancers(37;0.00125)|all_lung(18;0.00338)|all_epithelial(9;0.00358)|Lung NSC(13;0.0309)|Breast(268;0.116)				TCCAGACTTTCCGCCTTGGCT	0.463													T	47001550	C	T	47001550	3	4	502	1	0	0	0	0	1	0	0	0	4651	855	30	2	806	2	DNAJA2	16	47001550	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	23232681	47001550	43353203	63	45816											
KCNG4	93107	broad.mit.edu	37	chr16	84270341	84270341	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagaggccgctcacctggtCctcctctgccctgaggtcgg	4	9	12	16	2	3	2	2	1	1	1	6	2	5	2	5	4	1	1	5	4	0	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr16:84270341C>T	ENST00000568181.1	-	2	871	c.751G>A	c.(751-753)Gac>Aac	p.D251N	KCNG4_ENST00000308251.4_Missense_Mutation_p.D251N			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	251						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						CTCACCTGGTCCTCCTCTGCC	0.607													T	84270341	C	T	84270341	3	4	502	1	0	0	0	0	1	0	0	0	8088	855	30	2	814	2	KCNG4	16	84270341	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	37268791	84270341	6084412	64	45817											
FAM57A	79850	broad.mit.edu	37	chr17	641276	641276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcattctctttgtccttgtgCcagtcgcacaggtatggcct	5	15	9	12	1	2	0	1	0	1	0	5	0	3	0	3	2	1	2	3	2	1	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:641276C>T	ENST00000308278.8	+	3	633	c.397C>T	c.(397-399)Cca>Tca	p.P133S	FAM57A_ENST00000301324.8_Missense_Mutation_p.P133S|FAM57A_ENST00000572018.1_Intron	NM_024792.1	NP_079068.1	Q8TBR7	FA57A_HUMAN	family with sequence similarity 57, member A	133	TLC.					integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)|urinary_tract(2)	10				UCEC - Uterine corpus endometrioid carcinoma (25;0.0217)		TGTCCTTGTGCCAGTCGCACA	0.517													T	641276	C	T	641276	3	4	502	1	0	0	0	0	1	0	0	0	5638	739	26	2	407	2	FAM57A	17	641276	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		641276	80553934	65	45818											
SMYD4	114826	broad.mit.edu	37	chr17	1715303	1715303	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agctcctgtgtaatctttctCctgaaattttttgtttcctt	6	21	5	9	0	2	1	0	1	2	0	5	1	4	1	3	0	1	3	3	0	2	7			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:1715303C>A	ENST00000305513.7	-	3	408	c.241G>T	c.(241-243)Gag>Tag	p.E81*		NM_052928.2	NP_443160.2	Q8IYR2	SMYD4_HUMAN	SET and MYND domain containing 4	81							zinc ion binding			breast(4)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(5)|stomach(1)	21						TAATCTTTCTCCTGAAATTTT	0.393													A	1715303	C	A	1715303	4	1	502	1	0	0	0	0	0	1	0	0	14918	864	30	4	2209	4	SMYD4	17	1715303	Nonsense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	1074027	1715303	79479907	66	45819											
TP53	7157	broad.mit.edu	37	chr17	7577558	7577566	+	In_Frame_Del	DEL	GGAACTGTT	GGAACTGTT	-																															cggttcatgccgcccatgcaGgaactgttacacatgtagtt																								rs28934573		TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:7577558_7577566delGGAACTGTT	ENST00000420246.2	-	7	847_855	c.715_723delAACAGTTCC	c.(715-723)aacagttccdel	p.NSS239del	TP53_ENST00000455263.2_In_Frame_Del_p.NSS239del|TP53_ENST00000413465.2_In_Frame_Del_p.NSS239del|TP53_ENST00000269305.4_In_Frame_Del_p.NSS239del|TP53_ENST00000445888.2_In_Frame_Del_p.NSS239del|TP53_ENST00000359597.4_In_Frame_Del_p.NSS239del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	239	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		N -> D (in sporadic cancers; somatic mutation).|N -> H (in a sporadic cancer; somatic mutation).|N -> I (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.S241F(85)|p.N239D(33)|p.N239S(28)|p.S241C(26)|p.C242fs*5(15)|p.N239fs*25(14)|p.S240G(14)|p.S241fs*6(9)|p.S241A(8)|p.S240R(8)|p.0?(8)|p.S241T(8)|p.S241Y(8)|p.N239K(7)|p.N239Y(6)|p.S240I(6)|p.N239fs*1(5)|p.S241del(5)|p.?(5)|p.S148F(4)|p.N239T(4)|p.M237_N239delMCN(4)|p.N146S(3)|p.N239_C242delNSSC(3)|p.S240C(3)|p.S241S(3)|p.S241P(3)|p.N239_S240insX(2)|p.N239fs*8(2)|p.S240S(2)|p.S240T(2)|p.S240fs*7(2)|p.N239_S240delNS(2)|p.S241fs*22(2)|p.S148T(1)|p.C242fs*20(1)|p.C242fs*23(1)|p.N146D(1)|p.N239fs*26(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.N239fs*6(1)|p.S148C(1)|p.N239fs*4(1)|p.S240>CSC(1)|p.C238_M246delCNSSCMGGM(1)|p.S240P(1)|p.S241_C242insX(1)|p.S240fs*23(1)|p.M144_N146delMCN(1)|p.C238fs*21(1)|p.N239I(1)|p.N239N(1)|p.H233fs*6(1)|p.S241fs*7(1)|p.N239fs*>48(1)|p.S240fs*26(1)|p.N239*(1)|p.H233_C242del10(1)|p.N239_C242>S(1)|p.S241fs*23(1)|p.N146fs*>10(1)|p.S241_G245delSCMGG(1)|p.N239_S240insN(1)|p.N146fs*1(1)|p.C238_N239insX(1)|p.N239_C242del(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)		CGCCCATGCAGGAACTGTTACACATGTAG	0.574		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)			-	7577566	GGAACTGTT	-	7577558	7	5	502	1	0	1	0	1	0	0	0	0	16482	987	35	0	567	0	TP53	17	7577558	In_Frame_Del	DEL	GGAACTGTT	TCGA-FG-A6J3-01A-11D-A31L-08	5862255	7577558	73617652	67	45820											
MYH8	4626	broad.mit.edu	37	chr17	10295902	10295902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcgctcatgtttccgtaaaCctttaacagcctctgcatta	9	14	6	12	2	2	0	1	0	1	0	4	0	3	0	3	0	4	4	3	0	4	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:10295902C>T	ENST00000403437.2	-	38	5619	c.5525G>A	c.(5524-5526)gGt>gAt	p.G1842D	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1842					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TTTCCGTAAACCTTTAACAGC	0.443									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10295902	C	T	10295902	3	4	502	1	0	0	0	0	1	0	0	0	10117	507	18	2	300	2	MYH8	17	10295902	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	2718344	10295902	70899308	68	45821											
ACACA	31	broad.mit.edu	37	chr17	35454875	35454875	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcccgctccttcaactTgttctccaactccttccgct	4	15	3	19	2	2	0	1	0	1	0	8	0	7	0	6	0	2	3	6	0	2	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:35454875T>A	ENST00000353139.5	-	53	7091	c.6610A>T	c.(6610-6612)Aag>Tag	p.K2204*	ACACA_ENST00000335166.5_Nonsense_Mutation_p.K2089*|ACACA_ENST00000394406.2_Nonsense_Mutation_p.K2167*|ACACA_ENST00000361253.5_Nonsense_Mutation_p.K293*|ACACA_ENST00000360679.3_Nonsense_Mutation_p.K2109*	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	2167					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	TCCTTCAACTTGTTCTCCAAC	0.522													A	35454875	T	A	35454875	4	1	502	1	0	0	0	0	0	1	0	0	106	1821	63	5	557	5	ACACA	17	35454875	Nonsense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	25158973	35454875	45740335	69	45822											
KRT36	8689	broad.mit.edu	37	chr17	39643881	39643881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttattctccaccagggcctCgtactggcatctcatatcct	7	13	7	14	1	2	0	1	0	2	0	6	0	3	0	4	2	1	3	4	2	3	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39643881C>T	ENST00000393986.2	-	5	870	c.658G>A	c.(658-660)Gag>Aag	p.E220K	KRT36_ENST00000328119.6_Missense_Mutation_p.E270K			O76013	KRT36_HUMAN	keratin 36	270	Coil 1B.|Rod.					intermediate filament	protein binding|structural constituent of epidermis			breast(2)|cervix(1)|kidney(2)|large_intestine(3)|lung(8)|skin(1)	17		Breast(137;0.000286)				ACCAGGGCCTCGTACTGGCAT	0.602													T	39643881	C	T	39643881	3	4	502	1	0	0	0	0	1	0	0	0	8531	893	31	1	611	1	KRT36	17	39643881	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	4189006	39643881	41551329	70	45823											
KRT19	3880	broad.mit.edu	37	chr17	39684190	39684190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctctagctcgccgttggCcgcctccagggcgcgcacct	4	7	11	19	5	1	0	0	0	1	0	3	0	2	0	6	2	1	3	6	2	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:39684190C>T	ENST00000361566.3	-	1	370	c.310G>A	c.(310-312)Gcc>Acc	p.A104T		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				TCGCCGTTGGCCGCCTCCAGG	0.657													T	39684190	C	T	39684190	3	4	502	1	0	0	0	0	1	0	0	0	8514	739	26	2	916	2	KRT19	17	39684190	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	40309	39684190	41511020	71	45824											
STAT5B	6777	broad.mit.edu	37	chr17	40369407	40369407	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcaccatattcctgaaGtgggcactaagggtgcctgt	9	10	10	12	0	1	1	1	1	0	0	2	1	2	1	4	2	1	1	4	2	3	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr17:40369407G>A	ENST00000293328.3	-	10	1413	c.1245C>T	c.(1243-1245)caC>caT	p.H415H		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	415					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	TATTCCTGAAGTGGGCACTAA	0.458													A	40369407	G	A	40369407	2	1	502	1	0	0	0	0	0	0	0	1	15365	1020	36	2		2	STAT5B	17	40369407	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	685217	40369407	40825803	72	45825											
DSG3	1830	broad.mit.edu	37	chr18	29054364	29054364	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctggactcctacttttcTcaggtaatttggtgaaaaac	10	16	7	8	0	2	1	1	1	2	0	4	2	3	2	1	3	2	1	1	3	4	6			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:29054364T>C	ENST00000257189.4	+	15	2465	c.2382T>C	c.(2380-2382)tcT>tcC	p.S794S		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	794					cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding	p.S794S(1)		breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CCTACTTTTCTCAGGTAATTT	0.368													C	29054364	T	C	29054364	2	2	502	1	0	0	0	0	0	0	0	1	4817	1538	54	3		3	DSG3	18	29054364	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		29054364	49022884	73	45826											
SERPINB4	6318	broad.mit.edu	37	chr18	61309104	61309104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttttgaaactggtgatgaaCatttcctgacctatcaacct	11	14	6	10	0	1	4	1	4	0	0	2	4	2	4	3	1	3	0	3	1	4	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61309104C>T	ENST00000341074.5	-	4	356	c.241G>A	c.(241-243)Gtt>Att	p.V81I	SERPINB4_ENST00000356424.6_Missense_Mutation_p.V81I	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						TGGTGATGAACATTTCCTGAC	0.388													T	61309104	C	T	61309104	3	4	502	1	0	0	0	0	1	0	0	0	14196	478	17	2	951	2	SERPINB4	18	61309104	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	32254740	61309104	16768144	74	45827											
SERPINB8	5271	broad.mit.edu	37	chr18	61654342	61654342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgcccacaagtgcttcGtggaggtcaatgaggaaggc	10	8	15	8	1	1	1	1	1	0	0	2	3	1	3	1	5	2	2	1	5	3	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr18:61654342G>A	ENST00000397985.2	+	7	1211	c.955G>A	c.(955-957)Gtg>Atg	p.V319M	SERPINB8_ENST00000353706.2_Missense_Mutation_p.V319M|SERPINB8_ENST00000493661.1_Intron|SERPINB8_ENST00000542677.1_Missense_Mutation_p.V137M	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	319					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				CAAGTGCTTCGTGGAGGTCAA	0.527													A	61654342	G	A	61654342	3	1	502	1	0	0	0	0	1	0	0	0	14200	1145	40	1	990	1	SERPINB8	18	61654342	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	345238	61654342	16422906	75	45828											
ANKRD24	170961	broad.mit.edu	37	chr19	4199916	4199916	+	Frame_Shift_Del	DEL	G	G	-																															gagaggctgctacaagccgtGgaaaacaacgatgcacctcg																										TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:4199916delG	ENST00000600132.1	+	4	444	c.168delG	c.(166-168)gtgfs	p.V56fs	ANKRD24_ENST00000318934.4_Frame_Shift_Del_p.V56fs|ANKRD24_ENST00000262970.5_Frame_Shift_Del_p.V146fs	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	56										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)		TACAAGCCGTGGAAAACAACG	0.662													-	4199916	G	-	4199916	7	5	502	1	0	1	0	1	0	0	0	0	653	1335	47	0	178	0	ANKRD24	19	4199916	Frame_Shift_Del	DEL	G	TCGA-FG-A6J3-01A-11D-A31L-08		4199916	54929067	76	45829											
CALR3	125972	broad.mit.edu	37	chr19	16594777	16594777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagtctgttcccaatccttCgattctgccggggacgtttc	5	15	9	12	3	2	0	0	0	2	0	6	2	4	1	3	2	1	2	3	2	2	5			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:16594777C>T	ENST00000269881.3	-	5	704	c.642G>A	c.(640-642)tcG>tcA	p.S214S	CTD-3222D19.2_ENST00000409035.1_Intron|CALR3_ENST00000602234.1_5'UTR	NM_145046.4	NP_659483.2	Q96L12	CALR3_HUMAN	calreticulin 3	214	4 X approximate repeats.|P-domain.				protein folding	endoplasmic reticulum lumen	calcium ion binding|sugar binding|unfolded protein binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|prostate(1)|skin(1)	15						CCCAATCCTTCGATTCTGCCG	0.423													T	16594777	C	T	16594777	2	4	502	1	0	0	0	0	0	0	0	1	2619	871	31	1		1	CALR3	19	16594777	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	12394861	16594777	42534206	77	45830											
UPF1	5976	broad.mit.edu	37	chr19	18963850	18963850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttaacaagaagagaatcGcctacttcactttgcccaag	13	9	7	12	1	1	2	1	0	0	2	2	3	1	2	3	0	3	0	3	0	6	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:18963850G>A	ENST00000262803.5	+	7	1299	c.1027G>A	c.(1027-1029)Gcc>Acc	p.A343T	UPF1_ENST00000599848.1_Missense_Mutation_p.A343T	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	343	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						GAAGAGAATCGCCTACTTCAC	0.423													A	18963850	G	A	18963850	3	1	502	1	0	0	0	0	1	0	0	0	17105	1087	38	1	1053	1	UPF1	19	18963850	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	2369073	18963850	40165133	78	45831											
ZNF254	9534	broad.mit.edu	37	chr19	24270074	24270074	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggcccagcctctgtggcGctgttaccagcaggtattgg	7	9	14	11	1	1	1	0	0	1	1	1	1	1	1	3	4	3	4	3	4	2	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:24270074G>A	ENST00000357002.4	+	0	80				ZNF254_ENST00000342944.6_Intron|ZNF254_ENST00000339642.6_De_novo_Start_OutOfFrame	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254						negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				CCTCTGTGGCGCTGTTACCAG	0.592													A	24270074	G	A	24270074	1	1	502	1	0	0	0	0	0	0	0	0	17899	1102	38	1		1	ZNF254	19	24270074	Translation_Start_Site	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	5306224	24270074	34858909	79	45832											
C19orf55	148137	broad.mit.edu	37	chr19	36259310	36259310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggcctttctccagggaaGcggatgcccgattatcgttc	6	10	11	14	4	1	0	0	0	1	0	4	3	1	2	4	3	2	1	4	3	2	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:36259310G>T	ENST00000396908.4	+	12	1376	c.1303G>T	c.(1303-1305)Gcg>Tcg	p.A435S	C19orf55_ENST00000544099.1_3'UTR	NM_001039887.2	NP_001034976.2	Q2NL68	CS055_HUMAN	chromosome 19 open reading frame 55	436										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCCAGGGAAGCGGATGCCCG	0.627													T	36259310	G	T	36259310	3	4	502	1	0	0	0	0	1	0	0	0	1956	986	34	4		4	C19orf55	19	36259310	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	11989236	36259310	22869673	80	45833											
SULT2B1	6820	broad.mit.edu	37	chr19	49102472	49102472	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctaccgcaagcagatgcggGggatgccgaccttcccctgg	7	6	13	15	3	0	1	0	0	0	1	1	3	1	2	6	3	4	2	6	3	2	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:49102472G>T	ENST00000323090.4	+	6	1237	c.862G>T	c.(862-864)Ggg>Tgg	p.G288W	SULT2B1_ENST00000594274.1_3'UTR|SULT2B1_ENST00000201586.2_Missense_Mutation_p.G303W	NM_004605.2	NP_004596.2	O00204	ST2B1_HUMAN	sulfotransferase family, cytosolic, 2B, member 1	303					3'-phosphoadenosine 5'-phosphosulfate metabolic process|steroid metabolic process|xenobiotic metabolic process	cytosol	alcohol sulfotransferase activity|protein binding|steroid sulfotransferase activity			central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|skin(2)|urinary_tract(1)	11		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000115)|all cancers(93;0.000147)|GBM - Glioblastoma multiforme(486;0.00707)|Epithelial(262;0.0178)		GCAGATGCGGGGGATGCCGAC	0.657													T	49102472	G	T	49102472	3	4	502	1	0	0	0	0	1	0	0	0	15478	1232	43	4	959	4	SULT2B1	19	49102472	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	12843162	49102472	10026511	81	45834											
PTPRH	5794	broad.mit.edu	37	chr19	55699488	55699488	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgctgtccctctcattCttcctgacgtggtcagcgaa	6	13	9	13	2	3	1	2	1	2	0	6	2	5	1	2	1	2	2	2	1	1	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr19:55699488C>A	ENST00000376350.3	-	13	2455	c.2433G>T	c.(2431-2433)aaG>aaT	p.K811N	PTPRH_ENST00000263434.5_Missense_Mutation_p.K633N	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	811					apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCTCATTCTTCCTGACGT	0.572													A	55699488	C	A	55699488	3	1	502	1	0	0	0	0	1	0	0	0	12891	912	32	4	946	4	PTPRH	19	55699488	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	6597016	55699488	3429495	82	45835											
SS18L1	26039	broad.mit.edu	37	chr20	60736516	60736516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacgcagaacatgaacctgGgccctggagccctgactcag	10	5	11	15	1	1	3	1	2	0	1	1	4	1	4	4	2	3	1	4	2	2	0			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr20:60736516G>A	ENST00000331758.3	+	4	282	c.256G>A	c.(256-258)Ggc>Agc	p.G86S	SS18L1_ENST00000421564.1_Missense_Mutation_p.G86S|SS18L1_ENST00000370848.4_Missense_Mutation_p.G89S	NM_198935.1	NP_945173.1	O75177	CREST_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 1	86	N-terminal auto-inhibitory domain; necessary for interaction with SMARCA4/BRG1 (By similarity).				chromatin modification|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed chromosome kinetochore			SS18L1/SSX1(2)	ovary(2)|skin(1)	3	Breast(26;3.97e-09)		BRCA - Breast invasive adenocarcinoma(19;1.92e-08)			CATGAACCTGGGCCCTGGAGC	0.627			T	SSX1	synovial sarcoma								A	60736516	G	A	60736516	3	1	502	1	0	0	0	0	1	0	0	0	15272	1232	43	2	270	2	SS18L1	20	60736516	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08		60736516	2289004	83	45836											
DDTL	100037417	broad.mit.edu	37	chr22	24313560	24313560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagaaggtaagaagtcatgtTtgaatgaggaagctctcttc	13	12	11	5	0	2	4	1	2	1	2	4	5	2	5	0	2	1	3	0	2	6	4			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:24313560T>C	ENST00000215770.5	+	3	384	c.370T>C	c.(370-372)Ttg>Ctg	p.L124L	DDT_ENST00000398344.4_3'UTR|DDT_ENST00000350608.3_3'UTR	NM_001084393.1	NP_001077862.1	A6NHG4	DDTL_HUMAN	D-dopachrome tautomerase-like	124						cytoplasm	lyase activity			kidney(1)|urinary_tract(1)	2						GAAGTCATGTTTGAATGAGGA	0.468													C	24313560	T	C	24313560	2	2	502	1	0	0	0	0	0	0	0	1	4374	1838	64	3		3	DDTL	22	24313560	Silent	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08		24313560	26991006	84	45837											
MYH9	4627	broad.mit.edu	37	chr22	36681964	36681964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctcatcccgctcctgctgGgcctggcgcttggcacgctc	3	9	12	17	3	1	0	1	0	0	0	4	0	3	0	3	3	2	6	3	3	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:36681964G>A	ENST00000216181.5	-	36	5327	c.5097C>T	c.(5095-5097)gcC>gcT	p.A1699A	MYH9_ENST00000475726.1_5'UTR	NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	1699					actin cytoskeleton reorganization|actin filament-based movement|angiogenesis|axon guidance|blood vessel endothelial cell migration|cytokinesis|integrin-mediated signaling pathway|leukocyte migration|membrane protein ectodomain proteolysis|monocyte differentiation|platelet formation|protein transport|regulation of cell shape	actomyosin contractile ring|cleavage furrow|cytosol|myosin complex|nucleus|ruffle|stress fiber|uropod	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity|protein anchor|protein homodimerization activity			NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						GCTCCTGCTGGGCCTGGCGCT	0.652			T	ALK	ALCL		"Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"		Hereditary Macrothrombocytopenia, MYH9-associated				A	36681964	G	A	36681964	2	1	502	1	0	0	0	0	0	0	0	1	10118	1219	43	2		2	MYH9	22	36681964	Silent	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	12368404	36681964	14622602	85	45838											
TCF20	6942	broad.mit.edu	37	chr22	42608734	42608734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgatcttctttcagagaGggaacccccaggctcatgtg	9	10	10	12	0	4	2	2	1	2	1	4	4	4	3	2	2	1	1	2	2	1	2			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:42608734G>A	ENST00000359486.3	-	1	2714	c.2578C>T	c.(2578-2580)Ctc>Ttc	p.L860F	TCF20_ENST00000335626.4_Missense_Mutation_p.L860F	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	860					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTTTCAGAGAGGGAACCCCCA	0.478													A	42608734	G	A	42608734	3	1	502	1	0	0	0	0	1	0	0	0	15790	1000	35	2	3342	2	TCF20	22	42608734	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	5926770	42608734	8695832	86	45839											
BRD1	23774	broad.mit.edu	37	chr22	50217457	50217457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcgcccttgcgcttctcaTtgacgatctccagccaggca	7	10	9	15	3	2	1	1	1	2	0	5	2	2	1	3	1	2	2	3	1	0	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chr22:50217457T>C	ENST00000216267.8	-	1	995	c.509A>G	c.(508-510)aAt>aGt	p.N170S	BRD1_ENST00000404760.1_Missense_Mutation_p.N170S|BRD1_ENST00000457780.2_Missense_Mutation_p.N170S|BRD1_ENST00000404034.1_Missense_Mutation_p.N170S	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	170					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGCTTCTCATTGACGATCTC	0.567													C	50217457	T	C	50217457	3	2	502	1	0	0	0	0	1	0	0	0	1510	1493	52	3	2715	3	BRD1	22	50217457	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	7608723	50217457	1087109	87	45840											
NHS	4810	broad.mit.edu	37	chrX	17739569	17739569	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgtttgcagtcccatccCccagaggatgaagatacaga	11	10	9	11	0	0	4	0	1	0	3	2	5	2	5	3	1	2	2	3	1	2	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:17739569C>A	ENST00000380060.3	+	4	1199	c.861C>A	c.(859-861)ccC>ccA	p.P287P	NHS_ENST00000485305.1_3'UTR|NHS_ENST00000398097.3_Silent_p.P131P	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	287						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					AGTCCCATCCCCCAGAGGATG	0.423													A	17739569	C	A	17739569	2	1	502	1	0	0	0	0	0	0	0	1	10487	610	22	4		4	NHS	23	17739569	Silent	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08		17739569	137530991	88	45841											
MTMR8	55613	broad.mit.edu	37	chrX	63444340	63444340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctgtgatagaagtgaccGtggagtggctacagcaagaa	13	7	14	7	1	0	4	0	2	0	2	0	6	0	5	2	2	2	2	2	2	5	2	rs148589525	byFrequency	TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:63444340G>A	ENST00000453546.1	-	11	2046	c.1957C>T	c.(1957-1959)Cgg>Tgg	p.R653W	ASB12_ENST00000396130.2_Missense_Mutation_p.R269W|ASB12_ENST00000362002.2_Missense_Mutation_p.R278W			Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	0						nuclear envelope	protein tyrosine phosphatase activity	p.0?(2)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						AGAAGTGACCGTGGAGTGGCT	0.522													A	63444340	G	A	63444340	3	1	502	1	0	0	0	0	1	0	0	0	10025	1144	40	1		1	MTMR8	23	63444340	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	45704771	63444340	91826220	89	45842											
OPHN1	4983	broad.mit.edu	37	chrX	67273590	67273590	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggatctgggggcctcactgGggggcggatgatggttggct	5	9	20	7	1	2	1	1	1	1	0	2	3	2	3	1	9	0	2	1	9	0	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:67273590G>T	ENST00000355520.5	-	22	2862	c.2221C>A	c.(2221-2223)Cca>Aca	p.P741T	OPHN1_ENST00000540071.1_Missense_Mutation_p.P633T	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	741	Pro-rich.				axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						GGCCTCACTGGGGGGCGGATG	0.552													T	67273590	G	T	67273590	3	4	502	1	0	0	0	0	1	0	0	0	10951	1232	43	4	199	4	OPHN1	23	67273590	Missense_Mutation	SNP	G	TCGA-FG-A6J3-01A-11D-A31L-08	3829250	67273590	87996970	90	45843											
CDX4	1046	broad.mit.edu	37	chrX	72667535	72667535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccgccaaggccagttcccCcagcaggagccgccacagcc	8	2	11	20	3	0	0	0	0	0	0	1	1	1	1	8	2	3	2	8	2	1	1			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:72667535C>A	ENST00000373514.2	+	1	446	c.446C>A	c.(445-447)cCc>cAc	p.P149H		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	149						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCCAGTTCCCCCAGCAGGAGC	0.647													A	72667535	C	A	72667535	3	1	502	1	0	0	0	0	1	0	0	0	3214	623	22	4	448	4	CDX4	23	72667535	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	5393945	72667535	82603025	91	45844											
DIAPH2	1730	broad.mit.edu	37	chrX	96173534	96173534	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaacttttaggggctataaCaacagcagcagaaagaaata	19	8	8	6	0	0	2	0	0	0	2	0	2	0	2	0	2	5	3	0	2	9	6			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:96173534C>A	ENST00000324765.8	+	9	1243	c.896C>A	c.(895-897)aCa>aAa	p.T299K	DIAPH2_ENST00000373049.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373061.3_Missense_Mutation_p.T299K|DIAPH2_ENST00000355827.4_Missense_Mutation_p.T299K|DIAPH2_ENST00000373054.4_Missense_Mutation_p.T295K			O60879	DIAP2_HUMAN	diaphanous-related formin 2	299	GBD/FH3.				cell differentiation|cytokinesis|multicellular organismal development|oogenesis	cytosol|early endosome|Golgi apparatus|mitochondrion|nucleolus	receptor binding|Rho GTPase binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GGGGCTATAACAACAGCAGCA	0.368													A	96173534	C	A	96173534	3	1	502	1	0	0	0	0	1	0	0	0	4558	478	17	4	930	4	DIAPH2	23	96173534	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	23505999	96173534	59097026	92	45845											
AIFM1	9131	broad.mit.edu	37	chrX	129274525	129274525	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctgttgcaatcaagcacTtttcataggttatttgagag	11	14	8	8	0	2	1	2	1	0	1	2	2	2	1	1	1	2	4	1	1	4	6			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:129274525T>A	ENST00000287295.3	-	7	994	c.764A>T	c.(763-765)aAg>aTg	p.K255M	AIFM1_ENST00000346424.2_Intron|AIFM1_ENST00000535724.1_Missense_Mutation_p.K168M|AIFM1_ENST00000319908.3_Missense_Mutation_p.K251M	NM_001130847.3|NM_004208.3	NP_001124319.1|NP_004199.1	O95831	AIFM1_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 1	255	FAD-dependent oxidoreductase (By similarity).				activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|liver(2)|lung(8)|ovary(4)|prostate(2)|urinary_tract(1)	30						AATCAAGCACTTTTCATAGGT	0.423													A	129274525	T	A	129274525	3	1	502	1	0	0	0	0	1	0	0	0	426	1609	56	5	1129	5	AIFM1	23	129274525	Missense_Mutation	SNP	T	TCGA-FG-A6J3-01A-11D-A31L-08	33100991	129274525	25996035	93	45846											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220045	130220045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccgtgccatgattgataaCtgggatgtcctcttccaggt	7	13	11	10	1	1	2	0	2	1	0	4	3	4	3	4	2	2	0	4	2	1	3			TCGA-FG-A6J3-01A-11D-A31L-08	TCGA-FG-A6J3-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cb8ecf49-b071-4586-b806-e0c17d9a8a83	b3a66b29-a9a3-4bb1-9bd1-45f139832eae	g.chrX:130220045C>A	ENST00000276211.5	+	9	1608	c.1263C>A	c.(1261-1263)aaC>aaA	p.N421K	ARHGAP36_ENST00000370922.1_Missense_Mutation_p.N409K|ARHGAP36_ENST00000370921.1_Missense_Mutation_p.N285K	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	421	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						TGATTGATAACTGGGATGTCC	0.448													A	130220045	C	A	130220045	3	1	502	1	0	0	0	0	1	0	0	0	886	564	20	4	1293	4	ARHGAP36	23	130220045	Missense_Mutation	SNP	C	TCGA-FG-A6J3-01A-11D-A31L-08	945520	130220045	25050515	94	45847											
NT5C1A	84618	broad.mit.edu	37	chr1	40137623	40137623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcgtagaaaatcttggCttcctcccagaccggggccg	7	10	12	12	3	1	2	0	0	1	2	4	2	3	2	4	3	0	3	4	3	3	4			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:40137623C>T	ENST00000235628.1	-	1	87	c.88G>A	c.(88-90)Gcc>Acc	p.A30T		NM_032526.1	NP_115915.1	Q9BXI3	5NT1A_HUMAN	5'-nucleotidase, cytosolic IA	30					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	cytosol	5'-nucleotidase activity|magnesium ion binding|nucleotide binding			breast(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)	15	Lung NSC(20;3.81e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;1.87e-18)|Epithelial(16;4.3e-17)|all cancers(16;8.48e-16)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			AAAATCTTGGCTTCCTCCCAG	0.662													T	40137623	C	T	40137623	3	4	503	1	0	0	0	0	1	0	0	0	10761	797	28	2	1042	2	NT5C1A	1	40137623	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		40137623	209112998	1	45848											
TM2D1	83941	broad.mit.edu	37	chr1	62189460	62189461	+	Splice_Site	INS	-	-	A																															ggatctttacaaatatatgtINSaaaaaaaaaagttaaggaaa																								rs147863719		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:62189460_62189461insA	ENST00000371177.2	-	2	177		c.e2-2		TM2D1_ENST00000294613.5_Intron|TM2D1_ENST00000606498.1_Splice_Site|TM2D1_ENST00000371180.2_Splice_Site			Q9BX74	TM2D1_HUMAN	TM2 domain containing 1						apoptosis					large_intestine(2)|lung(3)|ovary(1)	6						CAAATATATGTAAAAAAAAAAG	0.302													A	62189461	-	A	62189460	8	5	503	1	0	1	1	0	0	0	1	0	16063	1653	57	0		0	TM2D1	1	62189460	Splice_Site	INS	-	TCGA-FG-A70Y-01A-12D-A34J-08	22051837	62189460	187061161	2	45849											
CDC7	8317	broad.mit.edu	37	chr1	91978676	91978676	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacgaaaatagagcttcttAaatttgtccagtctgaagct	14	13	7	7	1	2	2	0	1	2	1	3	3	3	2	1	0	3	2	1	0	7	5			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:91978676A>C	ENST00000428239.1	+	7	893	c.634A>C	c.(634-636)Aaa>Caa	p.K212Q	CDC7_ENST00000430031.2_Missense_Mutation_p.K184Q|CDC7_ENST00000234626.6_Missense_Mutation_p.K212Q	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	212	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		AGAGCTTCTTAAATTTGTCCA	0.408													C	91978676	A	C	91978676	3	2	503	1	0	0	0	0	1	0	0	0	3114	363	13	5	656	5	CDC7	1	91978676	Missense_Mutation	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	29789216	91978676	157271945	3	45850											
OR10K1	391109	broad.mit.edu	37	chr1	158436010	158436010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcctagtctcctacatccGcatcatctctgccattctaa	9	14	3	15	1	4	0	1	0	3	0	8	0	6	0	4	0	2	1	4	0	4	5			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr1:158436010G>A	ENST00000289451.2	+	1	739	c.659G>A	c.(658-660)cGc>cAc	p.R220H		NM_001004473.1	NP_001004473.1	Q8NGX5	O10K1_HUMAN	olfactory receptor, family 10, subfamily K, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R220H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	27	all_hematologic(112;0.0378)					TCCTACATCCGCATCATCTCT	0.478													A	158436010	G	A	158436010	3	1	503	1	0	0	0	0	1	0	0	0	10989	1087	38	1	661	1	OR10K1	1	158436010	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	66457334	158436010	90814611	4	45851											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	503	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		209113112	34086261	5	45852											
SCN11A	11280	broad.mit.edu	37	chr3	38892224	38892224	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtgactatgtcgaacaCgagaccttgacatttgttct	9	14	9	9	2	1	3	0	2	1	1	2	5	1	3	1	0	1	2	1	0	2	5			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:38892224C>T	ENST00000450244.1	-	25	4273	c.4075G>A	c.(4075-4077)Gtg>Atg	p.V1359M	SCN11A_ENST00000444237.2_Missense_Mutation_p.V1359M|SCN11A_ENST00000302328.3_Missense_Mutation_p.V1359M|SCN11A_ENST00000456224.3_Missense_Mutation_p.V1321M			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1359					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	ATGTCGAACACGAGACCTTGA	0.308													T	38892224	C	T	38892224	3	4	503	1	0	0	0	0	1	0	0	0	14006	536	19	1	1308	1	SCN11A	3	38892224	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		38892224	159130206	6	45853											
MYLK	4638	broad.mit.edu	37	chr3	123375992	123375992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcaggtttctctcctacCgttgtgagttcagactcctg	5	15	8	13	1	3	2	2	1	1	1	6	2	5	2	4	1	1	3	4	1	1	5			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr3:123375992C>T	ENST00000360772.3	-	25	4647	c.4269G>A	c.(4267-4269)acG>acA	p.T1423T	MYLK_ENST00000359169.1_Silent_p.T1423T|MYLK_ENST00000354792.5_Silent_p.T223T|MYLK_ENST00000360304.3_Silent_p.T1423T|MYLK_ENST00000346322.5_Silent_p.T1354T|MYLK_ENST00000475616.1_Silent_p.T1423T			Q15746	MYLK_HUMAN	myosin light chain kinase	1423	Actin-binding (calcium/calmodulin- insensitive) (By similarity).				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		TCTCTCCTACCGTTGTGAGTT	0.493													T	123375992	C	T	123375992	2	4	503	1	0	0	0	0	0	0	0	1	10132	639	23	1		1	MYLK	3	123375992	Silent	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08	84483768	123375992	74646438	7	45854											
SLC2A9	56606	broad.mit.edu	37	chr4	10027566	10027566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactttcttcatcttctcCtcggtcctttttactgagct	5	19	4	13	1	5	1	2	1	3	0	8	1	6	1	2	1	2	1	2	1	1	6			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:10027566C>T	ENST00000506583.1	-	3	242	c.25G>A	c.(25-27)Gga>Aga	p.G9R	SLC2A9_ENST00000309065.3_Missense_Mutation_p.G9R			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	0					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						TCATCTTCTCCTCGGTCCTTT	0.388													T	10027566	C	T	10027566	3	4	503	1	0	0	0	0	1	0	0	0	14646	690	24	2	1712	2	SLC2A9	4	10027566	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		10027566	181126710	8	45855											
TAPT1	202018	broad.mit.edu	37	chr4	16215462	16215462	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgtatacttggcctcatTatgttcaaggaagtaccctc	9	15	7	10	0	3	0	2	0	1	0	4	1	3	1	2	2	2	3	2	2	6	7			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr4:16215462T>G	ENST00000405303.2	-	2	342	c.259A>C	c.(259-261)Aat>Cat	p.N87H	TAPT1_ENST00000508888.1_5'UTR|TAPT1_ENST00000399920.3_Intron	NM_153365.2	NP_699196.2	Q6NXT6	TAPT1_HUMAN	transmembrane anterior posterior transformation 1	87						integral to membrane	growth hormone-releasing hormone receptor activity			NS(1)|breast(2)|cervix(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)	10						TTGGCCTCATTATGTTCAAGG	0.353													G	16215462	T	G	16215462	3	3	503	1	0	0	0	0	1	0	0	0	15651	1754	61	5	1496	5	TAPT1	4	16215462	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08	6187896	16215462	174938814	9	45856											
CARD6	84674	broad.mit.edu	37	chr5	40852495	40852495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaggttctggatgaagataGcaaggaggatttgctggctg	11	10	15	5	0	1	2	0	1	1	1	1	5	1	5	0	5	2	4	0	5	4	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:40852495G>A	ENST00000254691.5	+	3	1260	c.1061G>A	c.(1060-1062)aGc>aAc	p.S354N	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	354					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GATGAAGATAGCAAGGAGGAT	0.463													A	40852495	G	A	40852495	3	1	503	1	0	0	0	0	1	0	0	0	2676	971	34	2	1071	2	CARD6	5	40852495	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		40852495	140062765	10	45857											
TTC1	7265	broad.mit.edu	37	chr5	159437647	159437647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctccagttcctgatcccaaaAatcagcattcccagagtaag	13	9	6	13	0	1	2	1	1	0	1	5	2	5	2	4	0	1	3	4	0	3	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr5:159437647A>G	ENST00000231238.5	+	2	222	c.112A>G	c.(112-114)Aat>Gat	p.N38D	TTC1_ENST00000522793.1_Missense_Mutation_p.N38D	NM_001282500.1|NM_003314.1	NP_001269429.1|NP_003305.1	Q99614	TTC1_HUMAN	tetratricopeptide repeat domain 1	38					protein folding		unfolded protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|prostate(1)|skin(1)	12	Renal(175;0.00196)	all_hematologic(541;0.00014)|Breast(839;0.0101)|all_neural(177;0.0281)|Medulloblastoma(196;0.0425)|Lung NSC(249;0.119)|all_lung(500;0.163)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	Epithelial(171;8.37e-05)|all cancers(165;0.000694)|OV - Ovarian serous cystadenocarcinoma(192;0.0402)		TGATCCCAAAAATCAGCATTC	0.507													G	159437647	A	G	159437647	3	3	503	1	0	0	0	0	1	0	0	0	16780	14	1	3	114	3	TTC1	5	159437647	Missense_Mutation	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	118585152	159437647	21477613	11	45858											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													A	45390463	G	A	45390463	2	1	503	1	0	0	0	0	0	0	0	1	13839	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		45390463	125724604	12	45859											
KIAA1244	57221	broad.mit.edu	37	chr6	138618038	138618038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgtgcggagcaaagcacgGcccctgctccacgtgatgcg	8	7	13	13	4	0	1	0	1	0	0	1	2	1	2	3	2	5	3	3	2	1	1			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr6:138618038G>A	ENST00000251691.4	+	21	3760	c.3594G>A	c.(3592-3594)cgG>cgA	p.R1198R		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	1198					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GCAAAGCACGGCCCCTGCTCC	0.587													A	138618038	G	A	138618038	2	1	503	1	0	0	0	0	0	0	0	1	8275	1190	42	2		2	KIAA1244	6	138618038	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	93227575	138618038	32497029	13	45860											
GNAI1	2770	broad.mit.edu	37	chr7	79846748	79846748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactaagaatgtgcagtttgTttttgatgctgtaacagatg	11	16	10	4	0	0	3	0	1	0	2	0	3	0	3	0	0	4	5	0	0	4	6			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:79846748T>C	ENST00000351004.3	+	8	1377	c.1004T>C	c.(1003-1005)gTt>gCt	p.V335A	GNAI1_ENST00000457358.2_Missense_Mutation_p.V283A	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	335					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTGCAGTTTGTTTTTGATGCT	0.318													C	79846748	T	C	79846748	3	2	503	1	0	0	0	0	1	0	0	0	6560	1725	60	3	1034	3	GNAI1	7	79846748	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08		79846748	79291915	14	45861											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518984	113518984	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagcttctgctttctcagtAatgccatgatcagctagaga	10	12	8	11	0	3	2	2	1	2	1	4	3	3	2	2	0	4	4	2	0	2	4			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr7:113518984A>G	ENST00000284601.3	-	4	2231	c.2163T>C	c.(2161-2163)atT>atC	p.I721I		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	721					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CTTTCTCAGTAATGCCATGAT	0.388													G	113518984	A	G	113518984	2	3	503	1	0	0	0	0	0	0	0	1	12453	358	13	3		3	PPP1R3A	7	113518984	Silent	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	33672236	113518984	45619679	15	45862											
SH3PXD2A	9644	broad.mit.edu	37	chr10	105362427	105362427	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggaccttctggtaggCgctgcatgtcatgtacgagg	6	11	14	10	2	2	0	1	0	1	0	3	2	3	1	2	4	2	4	2	4	2	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr10:105362427C>T	ENST00000369774.4	-	15	2824	c.2548G>A	c.(2548-2550)Gcc>Acc	p.A850T	SH3PXD2A_ENST00000427662.2_Intron|SH3PXD2A_ENST00000540321.1_Missense_Mutation_p.A717T|SH3PXD2A_ENST00000355946.2_Missense_Mutation_p.A822T|SH3PXD2A_ENST00000315994.6_5'UTR|SH3PXD2A_ENST00000538130.1_Missense_Mutation_p.A685T			Q5TCZ1	SPD2A_HUMAN	SH3 and PX domains 2A	850	SH3 4.				cell communication|superoxide metabolic process	cell junction|cell projection|cytoplasm|podosome	phosphatidylinositol binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(1)|urinary_tract(1)	38		Colorectal(252;0.0815)|Breast(234;0.131)		Epithelial(162;4.09e-10)|all cancers(201;2.73e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0119)		TTCTGGTAGGCGCTGCATGTC	0.617													T	105362427	C	T	105362427	3	4	503	1	0	0	0	0	1	0	0	0	14350	768	27	1	857	1	SH3PXD2A	10	105362427	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		105362427	30172320	16	45863											
SIGIRR	59307	broad.mit.edu	37	chr11	408721	408721	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tactcgtggaggctgtagtgGcccccaattcccaatggaag	9	9	12	11	1	0	0	0	0	0	0	2	2	1	2	3	4	1	2	3	4	5	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr11:408721G>A	ENST00000431843.2	-	3	486	c.180C>T	c.(178-180)ggC>ggT	p.G60G	SIGIRR_ENST00000332725.3_Silent_p.G60G|SIGIRR_ENST00000397632.3_Silent_p.G60G|SIGIRR_ENST00000531205.1_Silent_p.G60G|SIGIRR_ENST00000529486.1_Intron|SIGIRR_ENST00000382520.2_Silent_p.G60G	NM_001135054.1	NP_001128526.1	Q6IA17	SIGIR_HUMAN	single immunoglobulin and toll-interleukin 1 receptor (TIR) domain	60	Ig-like C2-type.				acute-phase response|innate immune response|negative regulation of chemokine biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of lipopolysaccharide-mediated signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity	integral to membrane	protein binding|transmembrane receptor activity			cervix(2)|endometrium(1)|liver(1)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	13		all_cancers(49;1.59e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGCTGTAGTGGCCCCCAATTC	0.597													A	408721	G	A	408721	2	1	503	1	0	0	0	0	0	0	0	1	14398	1190	42	2		2	SIGIRR	11	408721	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		408721	134597795	17	45864											
MFSD5	84975	broad.mit.edu	37	chr12	53647929	53647929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggcatgatgctgagctgcGggtaccttcacctactgagg	9	9	13	10	1	1	3	1	3	0	0	1	3	1	3	2	3	5	4	2	3	3	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr12:53647929G>A	ENST00000534842.1	+	2	1778	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	MFSD5_ENST00000329548.4_Missense_Mutation_p.R437Q	NM_001170790.1	NP_001164261.1	Q6N075	MFSD5_HUMAN	major facilitator superfamily domain containing 5	437					transport	integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(3)|urinary_tract(1)	16						GCTGAGCTGCGGGTACCTTCA	0.547													A	53647929	G	A	53647929	3	1	503	1	0	0	0	0	1	0	0	0	9609	1116	39	1	1637	1	MFSD5	12	53647929	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		53647929	80203966	18	45865											
POTEG	404785	broad.mit.edu	37	chr14	19553674	19553674	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggcacttctggagaccaCgacgactctgctatgaagac	10	8	12	11	2	2	3	0	1	2	2	2	6	2	3	1	2	1	2	1	2	2	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:19553674C>T	ENST00000409832.3	+	1	310	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	86										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						CTGGAGACCACGACGACTCTG	0.602													T	19553674	C	T	19553674	2	4	503	1	0	0	0	0	0	0	0	1	12343	535	19	1		1	POTEG	14	19553674	Silent	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08		19553674	87795866	19	45866											
POTEM	641455	broad.mit.edu	37	chr14	20019963	20019963	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcatagcagagtcgtcGtggtctccagaagtgcccac	8	10	11	12	2	3	2	1	0	2	2	6	2	3	2	2	1	2	1	2	1	2	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr14:20019963G>A	ENST00000551509.1	-	1	309	c.258C>T	c.(256-258)caC>caT	p.H86H		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	86										endometrium(4)|kidney(1)|lung(4)	9						CAGAGTCGTCGTGGTCTCCAG	0.612													A	20019963	G	A	20019963	2	1	503	1	0	0	0	0	0	0	0	1	12345	1136	40	1		1	POTEM	14	20019963	Silent	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	466289	20019963	87329577	20	45867											
MYO5C	55930	broad.mit.edu	37	chr15	52521388	52521388	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccatcagaagtgacgtgcTccccctccaccaggtgttgg	8	8	11	14	1	1	2	1	1	0	1	3	2	3	2	5	2	2	2	5	2	1	1			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr15:52521388T>C	ENST00000261839.7	-	25	3310	c.3149A>G	c.(3148-3150)gAg>gGg	p.E1050G		NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	1050						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		AGTGACGTGCTCCCCCTCCAC	0.522													C	52521388	T	C	52521388	3	2	503	1	0	0	0	0	1	0	0	0	10156	1551	54	3	2147	3	MYO5C	15	52521388	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08		52521388	50010004	21	45868											
TP53	7157	broad.mit.edu	37	chr17	7577127	7577132	+	In_Frame_Del	DEL	CAAAGC	CAAAGC	-																															acaggcacaaacacgcacctCaaagctgttccgtcccagta																								rs67389650		TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:7577127_7577132delCAAAGC	ENST00000420246.2	-	8	938_943	c.806_811delGCTTTG	c.(805-813)agctttgag>aag	p.269_271SFE>K	TP53_ENST00000445888.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000269305.4_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000455263.2_In_Frame_Del_p.269_271SFE>K|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_In_Frame_Del_p.269_271SFE>K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	269	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		S -> C (in sporadic cancers; somatic mutation).|S -> G (in sporadic cancers; somatic mutation).|S -> I (in a sporadic cancer; somatic mutation).|S -> N (in sporadic cancers; somatic mutation).|S -> R (in sporadic cancers; somatic mutation).|S -> T (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.E271K(28)|p.F270L(24)|p.E271*(18)|p.F270C(15)|p.F270S(8)|p.0?(8)|p.F270V(7)|p.F270Y(5)|p.F270I(5)|p.E271Q(5)|p.S269N(4)|p.S269S(3)|p.G262_F270delGNLLGRNSF(2)|p.?(2)|p.G262_S269delGNLLGRNS(2)|p.S269_F270>I(2)|p.S269T(2)|p.G266_E271delGRNSFE(2)|p.S269fs*75(1)|p.S269fs*76(1)|p.E258fs*71(1)|p.S269>XXXXX(1)|p.G262fs*2(1)|p.S269R(1)|p.E271_R273delEVR(1)|p.F270fs*72(1)|p.S269_F270insX(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.F270_D281del12(1)|p.S269fs*3(1)|p.E271P(1)|p.E271del(1)|p.S269fs*34(1)|p.E271fs*34(1)|p.E271fs*35(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)		ACACGCACCTCAAAGCTGTTCCGTCC	0.539		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)			-	7577132	CAAAGC	-	7577127	7	5	503	1	0	1	0	1	0	0	0	0	16482	835	29	0	475	0	TP53	17	7577127	In_Frame_Del	DEL	CAAAGC	TCGA-FG-A70Y-01A-12D-A34J-08		7577127	73618083	22	45869											
KIF2B	84643	broad.mit.edu	37	chr17	51900741	51900741	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcgtaccgccacgaaatgggTtgcgatgatcccccagaaaa	12	6	11	12	4	0	2	0	1	0	1	1	4	1	2	4	1	2	2	4	1	4	2			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr17:51900741T>G	ENST00000268919.4	+	1	503	c.347T>G	c.(346-348)gTt>gGt	p.V116G		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	116					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						ACGAAATGGGTTGCGATGATC	0.602													G	51900741	T	G	51900741	3	3	503	1	0	0	0	0	1	0	0	0	8356	1725	60	5	349	5	KIF2B	17	51900741	Missense_Mutation	SNP	T	TCGA-FG-A70Y-01A-12D-A34J-08	44323614	51900741	29294469	23	45870											
RUVBL2	10856	broad.mit.edu	37	chr19	49513785	49513785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatggggagctccagaaacGcaaggaggtggtgcacaccg	12	4	16	9	2	0	2	0	0	0	2	1	4	1	4	2	5	3	3	2	5	2	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:49513785G>A	ENST00000413176.2	+	9	1717	c.569G>A	c.(568-570)cGc>cAc	p.R190H	RUVBL2_ENST00000595090.1_Missense_Mutation_p.R235H|RUVBL2_ENST00000601968.1_Missense_Mutation_p.R190H			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	235					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CTCCAGAAACGCAAGGAGGTG	0.647													A	49513785	G	A	49513785	3	1	503	1	0	0	0	0	1	0	0	0	13844	1087	38	1	738	1	RUVBL2	19	49513785	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		49513785	9615198	24	45871											
POLD1	5424	broad.mit.edu	37	chr19	50918151	50918151	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcccgacgcccacgaccGcatggactgcaagggcctgg	7	3	14	17	5	0	0	0	0	0	0	0	3	0	1	5	4	1	2	5	4	1	0			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chr19:50918151G>A	ENST00000440232.2	+	20	2521	c.2468G>A	c.(2467-2469)cGc>cAc	p.R823H	POLD1_ENST00000595904.1_Missense_Mutation_p.R849H|POLD1_ENST00000599857.1_Missense_Mutation_p.R823H	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	823					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCCCACGACCGCATGGACTGC	0.662								DNA polymerases (catalytic subunits)			OREG0025635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	50918151	G	A	50918151	3	1	503	1	0	0	0	0	1	0	0	0	12267	1087	38	1	2542	1	POLD1	19	50918151	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	1404366	50918151	8210832	25	45872											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909629	G	A	76909629	4	1	503	1	0	0	0	0	0	1	0	0	1213	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08		76909629	78360931	26	45873											
RGAG1	57529	broad.mit.edu	37	chrX	109696777	109696777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctggagagatgtctatgCcgctaatggaaaccatggcc	10	10	11	10	1	2	1	0	0	2	1	2	4	2	3	3	3	2	1	3	3	3	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:109696777C>T	ENST00000465301.2	+	3	3178	c.2932C>T	c.(2932-2934)Ccg>Tcg	p.P978S	RGAG1_ENST00000540313.1_Missense_Mutation_p.P978S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	978										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGTCTATGCCGCTAATGGA	0.502													T	109696777	C	T	109696777	3	4	503	1	0	0	0	0	1	0	0	0	13362	739	26	2	2934	2	RGAG1	23	109696777	Missense_Mutation	SNP	C	TCGA-FG-A70Y-01A-12D-A34J-08	32787148	109696777	45573783	27	45874											
AGTR2	186	broad.mit.edu	37	chrX	115304314	115304314	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctgaagatggcagctgctGttgttctggccttcatcatt	6	15	10	10	0	3	2	2	1	1	1	4	2	4	2	2	2	2	5	2	2	1	4			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:115304314G>C	ENST00000371906.4	+	3	971	c.781G>C	c.(781-783)Gtt>Ctt	p.V261L		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	261					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						GGCAGCTGCTGTTGTTCTGGC	0.463													C	115304314	G	C	115304314	3	2	503	1	0	0	0	0	1	0	0	0	402	1377	48	4	783	4	AGTR2	23	115304314	Missense_Mutation	SNP	G	TCGA-FG-A70Y-01A-12D-A34J-08	5607537	115304314	39966246	28	45875											
MAP7D3	79649	broad.mit.edu	37	chrX	135313000	135313000	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcgaataagctgcttacttAgtgctgatgggagacggcag	10	10	14	7	2	0	2	0	1	0	1	0	4	0	2	0	2	5	4	0	2	4	3			TCGA-FG-A70Y-01A-12D-A34J-08	TCGA-FG-A70Y-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	700928a2-4795-4590-9bab-63c38f8503f0	d647c017-124c-4573-872b-dab5575f2346	g.chrX:135313000A>G	ENST00000316077.9	-	9	1759	c.1539T>C	c.(1537-1539)acT>acC	p.T513T	MAP7D3_ENST00000370661.1_Silent_p.T478T|MAP7D3_ENST00000370663.5_Silent_p.T495T	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	513						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					CTGCTTACTTAGTGCTGATGG	0.393													G	135313000	A	G	135313000	2	3	503	1	0	0	0	0	0	0	0	1	9344	407	15	3		3	MAP7D3	23	135313000	Silent	SNP	A	TCGA-FG-A70Y-01A-12D-A34J-08	20008686	135313000	19957560	29	45876											
OR4F5	79501	broad.mit.edu	37	chr1	69557	69557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgagccagttggcgtttgCcgtgcacttactcttctgtg	4	14	13	10	2	2	1	0	1	2	0	2	1	2	1	2	2	4	3	2	2	1	4			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:69557C>T	ENST00000335137.3	+	1	467	c.467C>T	c.(466-468)gCc>gTc	p.A156V		NM_001005484.1	NP_001005484.1	Q8NH21	OR4F5_HUMAN	olfactory receptor, family 4, subfamily F, member 5	156					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			lung(1)|ovary(1)	2	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;3.48e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.21e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000469)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		TTGGCGTTTGCCGTGCACTTA	0.468													T	69557	C	T	69557	3	4	504	1	0	0	0	0	1	0	0	0	11141	739	26	2	469	2	OR4F5	1	69557	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		69557	249181064	1	45877											
GRHL3	57822	broad.mit.edu	37	chr1	24663605	24663605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcctgaaaacctccccggAacccccatgtccagaggact	11	7	7	16	1	0	2	0	1	0	1	3	4	3	4	7	2	2	0	7	2	4	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:24663605A>G	ENST00000361548.4	+	5	880	c.650A>G	c.(649-651)gAa>gGa	p.E217G	GRHL3_ENST00000342072.4_Missense_Mutation_p.E124G|GRHL3_ENST00000236255.4_Missense_Mutation_p.E222G|GRHL3_ENST00000350501.5_Missense_Mutation_p.E217G|GRHL3_ENST00000356046.2_Missense_Mutation_p.E171G	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	217					regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACCTCCCCGGAACCCCCATGT	0.567													G	24663605	A	G	24663605	3	3	504	1	0	0	0	0	1	0	0	0	6820	246	9	3	704	3	GRHL3	1	24663605	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	24594048	24663605	224587016	2	45878											
SYTL1	84958	broad.mit.edu	37	chr1	27675627	27675627	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagatcctgaggaggcGtcccaggcccaggaaggtga	9	6	15	11	1	1	3	1	2	0	1	3	5	3	5	3	5	0	1	3	5	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:27675627G>A	ENST00000543823.1	+	5	978	c.516G>A	c.(514-516)gcG>gcA	p.A172A	SYTL1_ENST00000490170.1_3'UTR|SYTL1_ENST00000318074.5_Silent_p.A160A			Q8IYJ3	SYTL1_HUMAN	synaptotagmin-like 1	172					exocytosis|intracellular protein transport	extrinsic to plasma membrane|melanosome|soluble fraction	neurexin binding|Rab GTPase binding			NS(1)|large_intestine(4)|lung(5)|ovary(1)|urinary_tract(1)	12		Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.0115)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0908)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.5e-28)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.0013)|KIRC - Kidney renal clear cell carcinoma(1967;0.00158)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		CTGAGGAGGCGTCCCAGGCCC	0.612													A	27675627	G	A	27675627	2	1	504	1	0	0	0	0	0	0	0	1	15579	1132	40	1		1	SYTL1	1	27675627	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3012022	27675627	221574994	3	45879											
HORMAD1	84072	broad.mit.edu	37	chr1	150676784	150676784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgcagggtttttttcCtgttcttccattttagtttc	6	20	8	7	0	1	1	0	0	1	1	4	2	3	1	2	1	1	4	2	1	2	8			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:150676784C>T	ENST00000368993.2	-	11	945	c.840G>A	c.(838-840)caG>caA	p.Q280Q	HORMAD1_ENST00000368995.4_Silent_p.Q200Q|HORMAD1_ENST00000361824.2_Silent_p.Q280Q|HORMAD1_ENST00000322343.7_Silent_p.Q273Q			Q86X24	HORM1_HUMAN	HORMA domain containing 1	280					blastocyst development|cell differentiation|meiotic DNA double-strand break formation|meiotic recombination checkpoint|meiotic sister chromatid cohesion|mitosis|oogenesis|regulation of homologous chromosome segregation|spermatogenesis|synaptonemal complex assembly	chromosome|nucleus				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(3)	16	all_cancers(9;3.23e-52)|all_epithelial(9;4.68e-43)|all_lung(15;5.74e-35)|Lung NSC(24;2.09e-31)|Breast(34;0.0009)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;2.32e-23)|all cancers(9;5.21e-23)|OV - Ovarian serous cystadenocarcinoma(6;6.72e-15)|BRCA - Breast invasive adenocarcinoma(12;0.000479)|LUSC - Lung squamous cell carcinoma(543;0.171)			GGTTTTTTTCCTGTTCTTCCA	0.308													T	150676784	C	T	150676784	2	4	504	1	0	0	0	0	0	0	0	1	7341	680	24	2		2	HORMAD1	1	150676784	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	123001157	150676784	98573837	4	45880											
SEC16B	89866	broad.mit.edu	37	chr1	177930832	177930832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgagaccagactcaCgctgctggagaaggttggac	10	7	15	9	1	1	3	1	1	0	3	1	7	1	5	1	4	2	4	1	4	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:177930832C>T	ENST00000308284.6	-	6	769	c.680G>A	c.(679-681)cGt>cAt	p.R227H	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.R227H	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	227					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane		p.R227H(1)		central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						ACCAGACTCACGCTGCTGGAG	0.512													T	177930832	C	T	177930832	3	4	504	1	0	0	0	0	1	0	0	0	14080	536	19	1	2586	1	SEC16B	1	177930832	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	27254048	177930832	71319789	5	45881											
HMCN1	83872	broad.mit.edu	37	chr1	186114580	186114580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctggggaacatgcagccGgacgtgtaacggagggcaga	10	5	18	8	3	0	1	0	0	0	1	0	4	0	4	1	6	4	4	1	6	2	1	rs141397809		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186114580G>A	ENST00000271588.4	+	92	14541	c.14312G>A	c.(14311-14313)cGg>cAg	p.R4771Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4771Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4771	TSP type-1 5.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ACATGCAGCCGGACGTGTAAC	0.552													A	186114580	G	A	186114580	3	1	504	1	0	0	0	0	1	0	0	0	7275	1116	39	1	14678	1	HMCN1	1	186114580	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	8183748	186114580	63136041	6	45882											
PRG4	10216	broad.mit.edu	37	chr1	186280588	186280588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggattctcagtactggcGttttaccaatgatataaaag	13	13	8	7	1	2	1	2	1	1	0	3	2	2	2	1	2	2	2	1	2	6	6			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:186280588G>A	ENST00000445192.2	+	10	3698	c.3653G>A	c.(3652-3654)cGt>cAt	p.R1218H	PRG4_ENST00000367483.4_Missense_Mutation_p.R1177H|PRG4_ENST00000367484.3_Missense_Mutation_p.R747H|PRG4_ENST00000367485.4_Missense_Mutation_p.R1125H|PRG4_ENST00000367486.3_Missense_Mutation_p.R1175H	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1218	Hemopexin-like 2.				cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			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						CAGTACTGGCGTTTTACCAAT	0.353													A	186280588	G	A	186280588	3	1	504	1	0	0	0	0	1	0	0	0	12567	1145	40	1	3687	1	PRG4	1	186280588	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	166008	186280588	62970033	7	45883											
SLC35F3	148641	broad.mit.edu	37	chr1	234367197	234367197	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggactccccgggcccggcGgaggcccaggcaccggccgg	4	1	18	18	6	0	0	0	0	0	0	1	2	1	2	6	8	0	1	6	8	0	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:234367197G>A	ENST00000366618.3	+	3	463	c.318G>A	c.(316-318)gcG>gcA	p.A106A	SLC35F3_ENST00000366617.3_Silent_p.A37A	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	37					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGGGCCCGGCGGAGGCCCAGG	0.736													A	234367197	G	A	234367197	2	1	504	1	0	0	0	0	0	0	0	1	14684	1103	39	1		1	SLC35F3	1	234367197	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	48086609	234367197	14883424	8	45884											
ZP4	57829	broad.mit.edu	37	chr1	238053178	238053178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttacctagaagatccAtaggacacttgagcagcttc	12	10	8	11	0	0	3	0	1	0	2	2	4	1	4	3	1	4	2	3	1	4	6			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:238053178A>G	ENST00000366570.4	-	3	547	c.389T>C	c.(388-390)aTg>aCg	p.M130T	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	130					acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			TAGAAGATCCATAGGACACTT	0.552													G	238053178	A	G	238053178	3	3	504	1	0	0	0	0	1	0	0	0	18317	217	8	3	1273	3	ZP4	1	238053178	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	3685981	238053178	11197443	9	45885											
OR14I1	401994	broad.mit.edu	37	chr1	248845349	248845349	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gataagagatggagcttctgCgagtcagggagttacggatg	11	9	16	5	2	2	1	1	0	1	1	2	7	2	4	0	3	3	2	0	3	2	3	rs139712934		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr1:248845349C>T	ENST00000342623.3	-	1	280	c.257G>A	c.(256-258)cGc>cAc	p.R86H		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	86					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						GGAGCTTCTGCGAGTCAGGGA	0.473													T	248845349	C	T	248845349	3	4	504	1	0	0	0	0	1	0	0	0	11023	768	27	1	682	1	OR14I1	1	248845349	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	10792171	248845349	405272	10	45886											
NCKAP5	344148	broad.mit.edu	37	chr2	133541329	133541329	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggggcatgagcagggcatcGggtttgaatgactgcttctg	7	10	17	7	1	1	3	0	3	1	0	2	3	1	3	0	4	2	5	0	4	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:133541329G>A	ENST00000409261.1	-	14	3428	c.3055C>T	c.(3055-3057)Cga>Tga	p.R1019*	NCKAP5_ENST00000317721.6_Nonsense_Mutation_p.R1019*|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000409213.1_Intron	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	1019							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						GCAGGGCATCGGGTTTGAATG	0.567													A	133541329	G	A	133541329	4	1	504	1	0	0	0	0	0	1	0	0	10299	1124	39	1	2702	1	NCKAP5	2	133541329	Nonsense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		133541329	109658044	11	45887											
SCN2A	6326	broad.mit.edu	37	chr2	166246283	166246283	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaaaaatttgaaaaagaCaaatcagaaaaggaagacaa	27	4	7	3	0	1	5	1	1	0	4	1	6	1	6	0	1	0	0	0	1	10	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:166246283C>T	ENST00000357398.3	+	27	6257	c.5967C>T	c.(5965-5967)gaC>gaT	p.D1989D	SCN2A_ENST00000375427.2_Silent_p.D1989D|SCN2A_ENST00000283256.6_Silent_p.D1989D|SCN2A_ENST00000375437.2_Silent_p.D1989D			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1989					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TTGAAAAAGACAAATCAGAAA	0.373													T	166246283	C	T	166246283	2	4	504	1	0	0	0	0	0	0	0	1	14009	477	17	2		2	SCN2A	2	166246283	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	32704954	166246283	76953090	12	45888											
TTN	7273	broad.mit.edu	37	chr2	179423251	179423251	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttttctagtgcttcaaCgacatagtgtacaattctgc	9	16	6	10	1	3	0	1	0	2	0	4	1	4	0	1	0	4	2	1	0	5	7			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179423251C>T	ENST00000589042.1	-	327	87159	c.86935G>A	c.(86935-86937)Gtt>Att	p.V28979I	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V20106I|TTN_ENST00000342992.6_Missense_Mutation_p.V26411I|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V27338I|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V20039I|TTN_ENST00000460472.2_Missense_Mutation_p.V19914I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27338	Fibronectin type-III 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGTGCTTCAACGACATAGTGT	0.428													T	179423251	C	T	179423251	3	4	504	1	0	0	0	0	1	0	0	0	16837	536	19	1	21188	1	TTN	2	179423251	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	13176968	179423251	63776122	13	45889											
TTN	7273	broad.mit.edu	37	chr2	179650418	179650418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggctagctgtgcgggggcGtttatccacatggactaatc	8	10	14	9	2	0	0	0	0	0	0	2	1	1	1	1	4	2	3	1	4	3	4	rs149155733		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr2:179650418G>A	ENST00000589042.1	-	15	2646	c.2422C>T	c.(2422-2424)Cgc>Tgc	p.R808C	TTN_ENST00000342175.6_Missense_Mutation_p.R762C|TTN_ENST00000342992.6_Missense_Mutation_p.R808C|TTN_ENST00000591111.1_Missense_Mutation_p.R808C|TTN_ENST00000359218.5_Missense_Mutation_p.R762C|TTN_ENST00000460472.2_Missense_Mutation_p.R762C|TTN_ENST00000360870.5_Missense_Mutation_p.R808C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	808							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTGCGGGGGCGTTTATCCACA	0.398													A	179650418	G	A	179650418	3	1	504	1	0	0	0	0	1	0	0	0	16837	1145	40	1	108958	1	TTN	2	179650418	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	227167	179650418	63548955	14	45890											
FGD5	152273	broad.mit.edu	37	chr3	14861995	14861995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagggtggcctggttcccGcggacaggaagaacaccagc	10	4	15	12	2	0	2	0	0	0	2	1	4	1	4	3	5	2	1	3	5	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr3:14861995G>A	ENST00000285046.5	+	1	1527	c.1417G>A	c.(1417-1419)Gcg>Acg	p.A473T	FGD5_ENST00000543601.1_Missense_Mutation_p.A232T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	473					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTGGTTCCCGCGGACAGGAA	0.642													A	14861995	G	A	14861995	3	1	504	1	0	0	0	0	1	0	0	0	5885	1087	38	1	1419	1	FGD5	3	14861995	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		14861995	183160435	15	45891											
MUC7	4589	broad.mit.edu	37	chr4	71347070	71347070	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactacacaagctccaccAtcttcctcagctccaccaga	12	7	4	18	0	2	1	1	0	1	1	5	1	5	1	5	0	4	3	5	0	3	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:71347070A>G	ENST00000413702.1	+	4	897	c.609A>G	c.(607-609)ccA>ccG	p.P203P	MUC7_ENST00000304887.5_Silent_p.P203P|MUC7_ENST00000456088.1_Silent_p.P203P	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	203	Thr-rich.					extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAGCTCCACCATCTTCCTCAG	0.587													G	71347070	A	G	71347070	2	3	504	1	0	0	0	0	0	0	0	1	10057	204	8	3		3	MUC7	4	71347070	Silent	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		71347070	119807206	16	45892											
HSD17B11	51170	broad.mit.edu	37	chr4	88312103	88312103	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcccagctcctgtaatCagcacgatttcgccggtgac	8	9	9	15	3	1	1	1	1	0	0	3	2	2	1	4	1	3	3	4	1	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:88312103C>A	ENST00000358290.4	-	1	435	c.120G>T	c.(118-120)ctG>ctT	p.L40L	HSD17B11_ENST00000507286.1_Silent_p.L40L	NM_016245.3	NP_057329.2	Q8NBQ5	DHB11_HUMAN	hydroxysteroid (17-beta) dehydrogenase 11	40					androgen catabolic process|steroid biosynthetic process	cytoplasm|extracellular region	binding|estradiol 17-beta-dehydrogenase activity			cervix(1)|endometrium(4)|kidney(2)|lung(2)|ovary(2)	11		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000339)		CTCCTGTAATCAGCACGATTT	0.453													A	88312103	C	A	88312103	2	1	504	1	0	0	0	0	0	0	0	1	7435	813	29	4		4	HSD17B11	4	88312103	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	16965033	88312103	102842173	17	45893											
ENPEP	2028	broad.mit.edu	37	chr4	111427803	111427803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtttaatagcttacaatttAtgtccagccagagcaaaagc	14	12	7	8	0	0	1	0	0	0	1	1	1	1	1	2	0	5	3	2	0	7	6			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr4:111427803A>G	ENST00000265162.5	+	4	1271	c.929A>G	c.(928-930)tAt>tGt	p.Y310C		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	310					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	CTTACAATTTATGTCCAGCCA	0.294													G	111427803	A	G	111427803	3	3	504	1	0	0	0	0	1	0	0	0	5169	449	16	3	943	3	ENPEP	4	111427803	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	23115700	111427803	79726473	18	45894											
RANBP3L	202151	broad.mit.edu	37	chr5	36301465	36301465	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagcttcagtttacaGgtgtgcaaactgccaggcag	9	10	11	11	0	1	0	1	0	0	0	2	0	2	0	2	2	6	5	2	2	2	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:36301465G>T	ENST00000296604.3	-	1	539	c.54C>A	c.(52-54)acC>acA	p.T18T	RANBP3L_ENST00000502994.1_Silent_p.T18T|RANBP3L_ENST00000515759.1_Silent_p.T18T	NM_145000.3	NP_659437.3	Q86VV4	RNB3L_HUMAN	RAN binding protein 3-like	18					intracellular transport					endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	16	all_lung(31;4.52e-05)		Epithelial(62;0.0543)|Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.149)|Colorectal(62;0.202)			TCAGTTTACAGGTGTGCAAAC	0.527													T	36301465	G	T	36301465	2	4	504	1	0	0	0	0	0	0	0	1	13118	987	35	4		4	RANBP3L	5	36301465	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		36301465	144613795	19	45895											
PLCXD3	345557	broad.mit.edu	37	chr5	41382519	41382519	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgagtggctaaccatttcCgcatgagctttttggccaca	8	13	9	11	1	1	2	0	2	1	0	2	2	2	2	3	2	2	3	3	2	1	4			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:41382519C>T	ENST00000377801.3	-	2	295	c.221G>A	c.(220-222)cGg>cAg	p.R74Q	PLCXD3_ENST00000328457.3_Missense_Mutation_p.R74Q			Q63HM9	PLCX3_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 3	74	PI-PLC X-box.				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						TAACCATTTCCGCATGAGCTT	0.468													T	41382519	C	T	41382519	3	4	504	1	0	0	0	0	1	0	0	0	12120	652	23	1	752	1	PLCXD3	5	41382519	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	5081054	41382519	139532741	20	45896											
GPBP1	65056	broad.mit.edu	37	chr5	56542308	56542308	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacctgctgctccacctacAaaagtaagttctaaattacc	15	10	4	12	0	1	0	0	0	1	0	2	0	2	0	4	0	5	4	4	0	8	5			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:56542308A>G	ENST00000424459.3	+	8	1994	c.720A>G	c.(718-720)acA>acG	p.T240T	GPBP1_ENST00000514387.2_Silent_p.T49T|GPBP1_ENST00000538707.1_Silent_p.T227T|GPBP1_ENST00000511209.1_Silent_p.T227T|GPBP1_ENST00000264779.6_Silent_p.T227T|GPBP1_ENST00000454432.2_Silent_p.T240T|GPBP1_ENST00000506184.2_Silent_p.T220T	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	220					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		CTCCACCTACAAAAGTAAGTT	0.373													G	56542308	A	G	56542308	2	3	504	1	0	0	0	0	0	0	0	1	6649	117	5	3		3	GPBP1	5	56542308	Silent	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	15159789	56542308	124372952	21	45897											
PCDHGC3	5098	broad.mit.edu	37	chr5	140857255	140857255	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atagtgtcatccttagtgccCctagactatgaggatcggcg	9	11	11	10	2	1	2	1	1	0	1	3	3	2	3	3	2	1	0	3	2	4	4			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:140857255C>T	ENST00000308177.3	+	1	1676	c.1572C>T	c.(1570-1572)ccC>ccT	p.P524P	PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron	NM_002588.2|NM_032402.1	NP_002579.2|NP_115778.1														breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(2)|urinary_tract(1)	29			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTTAGTGCCCCTAGACTATG	0.488													T	140857255	C	T	140857255	2	4	504	1	0	0	0	0	0	0	0	1	11645	610	22	2		2	PCDHGC3	5	140857255	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	84314947	140857255	40058005	22	45898											
KIF4B	285643	broad.mit.edu	37	chr5	154397004	154397004	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccttttgacctcccagagtcGaaacatggagcaacagaata	14	8	8	11	1	0	3	0	1	0	2	2	5	1	4	3	1	3	1	3	1	4	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:154397004G>A	ENST00000435029.4	+	1	3745	c.3585G>A	c.(3583-3585)tcG>tcA	p.S1195S		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	1195	Globular (By similarity).|Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TCCCAGAGTCGAAACATGGAG	0.507													A	154397004	G	A	154397004	2	1	504	1	0	0	0	0	0	0	0	1	8362	1045	37	1		1	KIF4B	5	154397004	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	13539749	154397004	26518256	23	45899											
ATP10B	23120	broad.mit.edu	37	chr5	160042950	160042950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggaaactggcccatctccGgaagtcctcttcgcttacaa	9	9	8	15	3	2	0	0	0	2	0	5	2	3	2	4	3	2	1	4	3	4	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr5:160042950G>A	ENST00000327245.5	-	17	3394	c.2548C>T	c.(2548-2550)Cgg>Tgg	p.R850W	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	850					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GCCCATCTCCGGAAGTCCTCT	0.517													A	160042950	G	A	160042950	3	1	504	1	0	0	0	0	1	0	0	0	1122	1115	39	1	1877	1	ATP10B	5	160042950	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	5645946	160042950	20872310	24	45900											
MUC21	394263	broad.mit.edu	37	chr6	30954953	30954953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcacagccaccaactctgAgtccagcacgacctccagtg	11	5	8	17	1	1	1	0	1	1	0	3	2	3	1	5	0	4	2	5	0	1	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:30954953A>G	ENST00000376296.3	+	2	1242	c.1001A>G	c.(1000-1002)gAg>gGg	p.E334G	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	334	28 X 15 AA approximate tandem repeats.|Ser-rich.					integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ACCAACTCTGAGTCCAGCACG	0.622													G	30954953	A	G	30954953	3	3	504	1	0	0	0	0	1	0	0	0	10053	304	11	3	1007	3	MUC21	6	30954953	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		30954953	140160114	25	45901											
GRM4	2914	broad.mit.edu	37	chr6	34029770	34029770	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctgccttgggctcccGtggtatcttcaccgactggg	3	11	12	15	3	2	0	1	0	1	0	4	1	3	0	4	3	1	2	4	3	1	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr6:34029770G>A	ENST00000538487.2	-	4	1215	c.772C>T	c.(772-774)Cgg>Tgg	p.R258W	GRM4_ENST00000545715.1_5'UTR|GRM4_ENST00000374177.3_Missense_Mutation_p.R189W|GRM4_ENST00000455714.2_Missense_Mutation_p.R118W|GRM4_ENST00000609222.1_Missense_Mutation_p.R125W|GRM4_ENST00000535756.1_Missense_Mutation_p.R125W|GRM4_ENST00000544773.2_Missense_Mutation_p.R89W|GRM4_ENST00000374181.4_Missense_Mutation_p.R258W	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	TTGGGCTCCCGTGGTATCTTC	0.617													A	34029770	G	A	34029770	3	1	504	1	0	0	0	0	1	0	0	0	6854	1144	40	1	1998	1	GRM4	6	34029770	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3074817	34029770	137085297	26	45902											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	504	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		55221822	103916841	27	45903											
EGFR	1956	broad.mit.edu	37	chr7	55273104	55273104	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagtatctcaacactgtcCagcccacctgtgtcaacagc	10	8	7	16	1	2	0	2	0	1	0	4	1	3	0	4	0	4	1	4	0	3	1	rs145189325		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55273104C>T	ENST00000275493.2	+	28	3604	c.3427C>T	c.(3427-3429)Cag>Tag	p.Q1143*	EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.Q1090*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1143					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACACTGTCCAGCCCACCTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55273104	C	T	55273104	4	4	504	1	0	0	0	0	0	1	0	0	5006	595	21	2	3801	2	EGFR	7	55273104	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	51282	55273104	103865559	28	45904											
SEPT14	346288	broad.mit.edu	37	chr7	55902220	55902220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattatcttattcttaaaCgtctgtaaatcatttttaga	12	19	3	7	1	5	1	2	0	3	1	5	1	5	1	0	0	1	1	0	0	7	8			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:55902220C>T	ENST00000388975.3	-	6	734	c.618G>A	c.(616-618)acG>acA	p.T206T		NM_207366.2	NP_997249.2	Q6ZU15	SEP14_HUMAN	septin 14	206					cell cycle|cell division	septin complex	GTP binding|protein binding	p.T206T(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(15)|skin(2)	23	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TATTCTTAAACGTCTGTAAAT	0.348													T	55902220	C	T	55902220	2	4	504	1	0	0	0	0	0	0	0	1	14156	523	19	1		1	SEPT14	7	55902220	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	629116	55902220	103236443	29	45905											
STAG3L4	64940	broad.mit.edu	37	chr7	66785180	66785180	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagcaaaaaaacaatacaGctatccaaggagcaagtgct	20	5	8	8	0	0	1	0	0	0	1	1	2	1	2	1	1	6	4	1	1	9	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr7:66785180G>A	ENST00000416602.2	+	0	810					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				AAACAATACAGCTATCCAAGG	0.368													A	66785180	G	A	66785180	1	1	504	0	1	0	0	0	0	0	0	0	15343	986	34	2		2	STAG3L4	7	66785180	RNA	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	10882960	66785180	92353483	30	45906											
GPR20	2843	broad.mit.edu	37	chr8	142367776	142367776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgagggtgtcttggccCgggtgcggcagcagaagacg	7	7	18	9	3	1	4	0	2	1	2	1	4	1	4	1	4	2	2	1	4	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr8:142367776C>T	ENST00000377741.3	-	2	338	c.248G>A	c.(247-249)cGg>cAg	p.R83Q		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	83						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			TGTCTTGGCCCGGGTGCGGCA	0.652													T	142367776	C	T	142367776	3	4	504	1	0	0	0	0	1	0	0	0	6734	652	23	1	832	1	GPR20	8	142367776	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		142367776	3996246	31	45907											
SLC28A3	64078	broad.mit.edu	37	chr9	86903095	86903095	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagtgggaggatggaaccTgcaatttcagaagaaagaag	17	6	13	5	0	1	3	1	0	0	3	1	6	1	6	1	3	2	1	1	3	6	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:86903095T>A	ENST00000376238.4	-	12	1199		c.e12-2		SLC28A3_ENST00000537648.1_Splice_Site|RP11-380F14.2_ENST00000419815.1_RNA	NM_001199633.1|NM_022127.2	NP_001186562.1|NP_071410.1	Q9HAS3	S28A3_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 3						nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|plasma membrane	nucleoside binding			endometrium(2)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GGATGGAACCTGCAATTTCAG	0.468													A	86903095	T	A	86903095	5	1	504	1	0	0	0	0	0	0	1	0	14627	1594	55	5	955	5	SLC28A3	9	86903095	Splice_Site	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08		86903095	54310336	32	45908											
COL15A1	1306	broad.mit.edu	37	chr9	101748113	101748113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtcatctacctgggcctgCggctctcaggtgtggaggac	6	9	15	11	1	3	0	2	0	2	0	4	2	3	2	2	6	2	1	2	6	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:101748113C>T	ENST00000375001.3	+	3	790	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	123	TSP N-terminal.				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				CCTGGGCCTGCGGCTCTCAGG	0.632													T	101748113	C	T	101748113	3	4	504	1	0	0	0	0	1	0	0	0	3703	759	27	1	377	1	COL15A1	9	101748113	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	14845018	101748113	39465318	33	45909											
RXRA	6256	broad.mit.edu	37	chr9	137309089	137309089	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccaacgaggacatgccggtGgagaggatcctggaggctga	10	5	17	9	2	0	2	0	1	0	1	1	7	1	5	3	6	2	1	3	6	1	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:137309089G>A	ENST00000540193.1	+	4	1328	c.405G>A	c.(403-405)gtG>gtA	p.V135V	RXRA_ENST00000356384.4_3'UTR|RXRA_ENST00000481739.1_Silent_p.V232V			P19793	RXRA_HUMAN	retinoid X receptor, alpha	232					cellular lipid metabolic process|cholesterol metabolic process|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to retinoic acid|vitamin metabolic process	nuclear chromatin|nucleoplasm	enzyme binding|ligand-regulated transcription factor activity|protein heterodimerization activity|retinoic acid-responsive element binding|retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|transcription coactivator activity|vitamin D receptor binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19				OV - Ovarian serous cystadenocarcinoma(145;4.66e-08)|Epithelial(140;6.72e-08)|all cancers(34;2.22e-07)	Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)	ACATGCCGGTGGAGAGGATCC	0.647													A	137309089	G	A	137309089	2	1	504	1	0	0	0	0	0	0	0	1	13854	1335	47	2		2	RXRA	9	137309089	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	35560976	137309089	3904342	34	45910											
QSOX2	169714	broad.mit.edu	37	chr9	139108552	139108552	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagcttcttgactggcGgccgtccagggaacagctgc	8	7	12	14	2	1	1	0	1	1	0	2	2	2	2	3	3	5	2	3	3	2	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr9:139108552G>A	ENST00000358701.5	-	9	1140	c.1103C>T	c.(1102-1104)cCg>cTg	p.P368L		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	368					cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity	p.P368L(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CTTGACTGGCGGCCGTCCAGG	0.642													A	139108552	G	A	139108552	3	1	504	1	0	0	0	0	1	0	0	0	12972	1116	39	1	1009	1	QSOX2	9	139108552	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	1799463	139108552	2104879	35	45911											
HECTD2	143279	broad.mit.edu	37	chr10	93185044	93185044	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttctgttttcagggtttgGacagaggagccaaaggccaa	10	12	12	7	0	2	1	1	0	1	1	2	3	2	3	2	4	1	2	2	4	2	5			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:93185044G>C	ENST00000446394.1	+	2	245	c.145G>C	c.(145-147)Gac>Cac	p.D49H	HECTD2_ENST00000371681.4_Missense_Mutation_p.D49H|HECTD2_ENST00000298068.5_Missense_Mutation_p.D49H	NM_001284274.1	NP_001271203.1	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	49					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						TCAGGGTTTGGACAGAGGAGC	0.348													C	93185044	G	C	93185044	3	2	504	1	0	0	0	0	1	0	0	0	7095	1174	41	4	151	4	HECTD2	10	93185044	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		93185044	42349703	36	45912											
SORCS1	114815	broad.mit.edu	37	chr10	108357142	108357142	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatggacaaggactcGgactcctggcttcagctcga	10	7	12	12	2	1	0	1	0	0	0	4	4	2	3	1	4	3	4	1	4	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr10:108357142G>A	ENST00000263054.6	-	24	3239	c.3232C>T	c.(3232-3234)Cga>Tga	p.R1078*	SORCS1_ENST00000344440.6_Nonsense_Mutation_p.R1078*|SORCS1_ENST00000369698.1_Nonsense_Mutation_p.R613*	NM_001206570.1|NM_052918.4	NP_001193499.1|NP_443150.3	Q8WY21	SORC1_HUMAN	sortilin-related VPS10 domain containing receptor 1	1078						integral to membrane	neuropeptide receptor activity|protein binding	p.R1078*(3)		breast(5)|central_nervous_system(1)|cervix(2)|endometrium(9)|kidney(2)|large_intestine(24)|lung(69)|ovary(1)|prostate(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	127		Breast(234;0.0256)|Colorectal(252;0.09)|Lung NSC(174;0.168)		Epithelial(162;1.66e-05)|all cancers(201;0.000689)		ACAAGGACTCGGACTCCTGGC	0.507													A	108357142	G	A	108357142	4	1	504	1	0	0	0	0	0	1	0	0	15024	1124	39	1	520	1	SORCS1	10	108357142	Nonsense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	15172098	108357142	27177605	37	45913											
MUC5B	727897	broad.mit.edu	37	chr11	1267410	1267410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccacccctcctccactccGgagaccacccacacctccac	9	5	3	24	1	0	1	0	0	0	1	5	2	5	1	10	1	0	0	10	1	0	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:1267410G>A	ENST00000447027.1	+	31	9367	c.9309G>A	c.(9307-9309)ccG>ccA	p.P3103P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3100P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3100	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCTCCACTCCGGAGACCACCC	0.647													A	1267410	G	A	1267410	2	1	504	1	0	0	0	0	0	0	0	1	10055	1103	39	1		1	MUC5B	11	1267410	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		1267410	133739106	38	45914											
ALX4	60529	broad.mit.edu	37	chr11	44286677	44286677	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgggtcgcaggggaccacGcaggctggcactggtgaggc	7	4	18	12	3	0	1	0	1	0	0	1	2	0	2	2	7	0	4	2	7	0	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:44286677G>A	ENST00000329255.3	-	4	1066	c.963C>T	c.(961-963)tgC>tgT	p.C321C		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	321					hair follicle development					central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						AGGGGACCACGCAGGCTGGCA	0.677													A	44286677	G	A	44286677	2	1	504	1	0	0	0	0	0	0	0	1	558	1079	38	1		1	ALX4	11	44286677	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	43019267	44286677	90719839	39	45915											
RAPSN	5913	broad.mit.edu	37	chr11	47469404	47469404	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccaggctgcagcacacgCggcactcgagcatggcgtca	8	5	13	15	4	1	0	1	0	0	0	2	1	1	0	1	3	4	5	1	3	0	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:47469404C>T	ENST00000298854.2	-	2	704	c.491G>A	c.(490-492)cGc>cAc	p.R164H	RAPSN_ENST00000524487.1_Missense_Mutation_p.R164H|RAPSN_ENST00000529341.1_Missense_Mutation_p.R164H|RAPSN_ENST00000352508.3_Missense_Mutation_p.R164H	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	164			R -> C (in CMS-ACHRD; reduced coclustering with acetylcholine receptor).		synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						GCAGCACACGCGGCACTCGAG	0.632													T	47469404	C	T	47469404	3	4	504	1	0	0	0	0	1	0	0	0	13139	768	27	1	775	1	RAPSN	11	47469404	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	3182727	47469404	87537112	40	45916											
RPS6KB2	6199	broad.mit.edu	37	chr11	67201678	67201678	+	Frame_Shift_Del	DEL	T	T	-																															tctacctacagagacatcccTttttccggcacatgaattgg																										TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:67201678delT	ENST00000312629.5	+	12	1024	c.979delT	c.(979-981)tttfs	p.F328fs	AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2	328	Protein kinase.				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of translational initiation|translation	nucleoplasm	ATP binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			GAGACATCCCTTTTTCCGGCA	0.632													-	67201678	T	-	67201678	7	5	504	1	0	1	0	1	0	0	0	0	13748	1609	56	0	1025	0	RPS6KB2	11	67201678	Frame_Shift_Del	DEL	T	TCGA-FG-A70Z-01A-12D-A33T-08	19732274	67201678	67804838	41	45917											
RPS3	6188	broad.mit.edu	37	chr11	75113439	75113439	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagaggtctgtgtgccattgCccaggcagagtctctgcgtt	6	12	13	10	1	2	2	0	0	2	2	3	2	2	2	2	2	3	2	2	2	1	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:75113439C>G	ENST00000531188.1	+	4	361	c.299C>G	c.(298-300)gCc>gGc	p.A100G	RPS3_ENST00000527446.1_Missense_Mutation_p.A100G|RPS3_ENST00000526608.1_Missense_Mutation_p.A88G|RPS3_ENST00000278572.6_Missense_Mutation_p.A116G|RPS3_ENST00000529285.1_3'UTR|RPS3_ENST00000524851.1_Missense_Mutation_p.A100G|RPS3_ENST00000530164.1_Missense_Mutation_p.A100G|RPS3_ENST00000534440.1_Intron	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	100					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						TGTGCCATTGCCCAGGCAGAG	0.458													G	75113439	C	G	75113439	3	3	504	1	0	0	0	0	1	0	0	0	13734	739	26	4	313	4	RPS3	11	75113439	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	7911761	75113439	59893077	42	45918											
APOA4	337	broad.mit.edu	37	chr11	116691769	116691769	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcaagtggccttccacGtcccccgcatgggggcccag	7	6	12	16	2	1	0	1	0	0	0	3	0	3	0	5	3	1	2	5	3	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:116691769G>A	ENST00000357780.3	-	3	1119	c.1005C>T	c.(1003-1005)gaC>gaT	p.D335D		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GGCCTTCCACGTCCCCCGCAT	0.577													A	116691769	G	A	116691769	2	1	504	1	0	0	0	0	0	0	0	1	786	1136	40	1		1	APOA4	11	116691769	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	41578330	116691769	18314747	43	45919											
OR8G1	26494	broad.mit.edu	37	chr11	124120628	124120628	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcagcagtctgtccttcaTtgacttctgccattccactg	6	14	6	15	0	4	1	2	1	2	0	6	1	6	1	4	0	2	1	4	0	0	4			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr11:124120628T>G	ENST00000341493.2	+	0	206				OR8G1_ENST00000534473.2_RNA	NM_001002905.1	NP_001002905.1	Q15617	OR8G1_HUMAN	olfactory receptor, family 8, subfamily G, member 1						sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity						Breast(109;0.0157)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0569)|Lung(307;0.174)		CTGTCCTTCATTGACTTCTGC	0.493													G	124120628	T	G	124120628	1	3	504	0	1	0	0	0	0	0	0	0	11310	1493	52	5		5	OR8G1	11	124120628	RNA	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08	7428859	124120628	10885888	44	45920											
TMTC1	83857	broad.mit.edu	37	chr12	29904597	29904597	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accaagaaacccagcccagtAcctcatcatggaccacacag	15	4	6	16	0	2	1	2	0	0	1	2	2	2	2	5	1	3	1	5	1	3	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:29904597A>C	ENST00000256062.5	-	5	1088		c.e5+1		TMTC1_ENST00000551659.1_Splice_Site|TMTC1_ENST00000552618.1_Splice_Site|TMTC1_ENST00000539277.1_Splice_Site|TMTC1_ENST00000381224.2_Splice_Site	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					ccagcccagtacctcatcatg	0.567													C	29904597	A	C	29904597	5	2	504	1	0	0	0	0	0	0	1	0	16360	405	14	5	1764	5	TMTC1	12	29904597	Splice_Site	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		29904597	103947298	45	45921											
ADAMTS20	80070	broad.mit.edu	37	chr12	43884232	43884232	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttagatgaacaaatGtcttcccttaaaataaaaga	16	14	4	7	0	2	3	0	1	2	2	4	3	3	3	1	0	1	0	1	0	7	6			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:43884232G>A	ENST00000389420.3	-	7	1082	c.1083C>T	c.(1081-1083)gaC>gaT	p.D361D	ADAMTS20_ENST00000553158.1_Silent_p.D361D	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	361	Peptidase M12B.					proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		ATGAACAAATGTCTTCCCTTA	0.229													A	43884232	G	A	43884232	2	1	504	1	0	0	0	0	0	0	0	1	266	1368	48	2		2	ADAMTS20	12	43884232	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	13979635	43884232	89967663	46	45922											
BIN2	51411	broad.mit.edu	37	chr12	51717863	51717863	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcgaagaggccggccgcGccgcctgccttgccctctgc	3	7	14	17	5	1	1	0	0	1	1	1	2	1	1	6	3	3	0	6	3	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:51717863G>A	ENST00000267012.4	-	1	85	c.24C>T	c.(22-24)ggC>ggT	p.G8G	BIN2_ENST00000603260.1_5'UTR|BIN2_ENST00000604560.1_Silent_p.G8G|BIN2_ENST00000544402.1_Intron|BIN2_ENST00000452142.2_Silent_p.G8G	NM_016293.2	NP_057377.2	Q9UBW5	BIN2_HUMAN	bridging integrator 2	8						cytoplasm	protein binding			NS(2)|breast(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(3)	31						GGCCGGCCGCGCCGCCTGCCT	0.706													A	51717863	G	A	51717863	2	1	504	1	0	0	0	0	0	0	0	1	1439	1074	38	1		1	BIN2	12	51717863	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	7833631	51717863	82134032	47	45923											
MARS	4141	broad.mit.edu	37	chr12	57894183	57894183	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagcaactgcgatgtgagCactgtgctcgcttcctggct	6	11	13	11	2	0	1	0	1	0	0	2	3	1	2	1	2	5	5	1	2	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:57894183C>T	ENST00000262027.5	+	10	1305	c.1171C>T	c.(1171-1173)Cac>Tac	p.H391Y	MARS_ENST00000447721.2_3'UTR|MARS_ENST00000315473.5_Missense_Mutation_p.H157Y	NM_004990.3	NP_004981.2	P56192	SYMC_HUMAN	methionyl-tRNA synthetase	391					methionyl-tRNA aminoacylation	cytosol	ATP binding|methionine-tRNA ligase activity|protein binding|tRNA binding			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	33			GBM - Glioblastoma multiforme(3;4.27e-41)		L-Methionine(DB00134)	GCGATGTGAGCACTGTGCTCG	0.567													T	57894183	C	T	57894183	3	4	504	1	0	0	0	0	1	0	0	0	9391	710	25	2	1209	2	MARS	12	57894183	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	6176320	57894183	75957712	48	45924											
USP15	9958	broad.mit.edu	37	chr12	62777762	62777762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatacaattaaaagatgcaGatggaaggccagataaggta	19	8	10	4	0	0	3	0	0	0	3	0	4	0	4	1	3	2	2	1	3	8	5			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62777762G>A	ENST00000280377.5	+	10	1289	c.1231G>A	c.(1231-1233)Gat>Aat	p.D411N	USP15_ENST00000353364.3_Missense_Mutation_p.D382N|USP15_ENST00000393654.3_Missense_Mutation_p.D386N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	411					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AAAAGATGCAGATGGAAGGCC	0.333													A	62777762	G	A	62777762	3	1	504	1	0	0	0	0	1	0	0	0	17148	942	33	2	1178	2	USP15	12	62777762	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	4883579	62777762	71074133	49	45925											
USP15	9958	broad.mit.edu	37	chr12	62778055	62778055	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttggaagtttacttagttaGaatggatccacttaccaaac	13	13	7	8	0	0	1	0	0	0	1	1	3	1	3	2	2	3	2	2	2	7	6			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:62778055G>C	ENST00000280377.5	+	11	1503	c.1445G>C	c.(1444-1446)aGa>aCa	p.R482T	USP15_ENST00000353364.3_Missense_Mutation_p.R453T|USP15_ENST00000393654.3_Missense_Mutation_p.R457T	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	482					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		TACTTAGTTAGAATGGATCCA	0.313													C	62778055	G	C	62778055	3	2	504	1	0	0	0	0	1	0	0	0	17148	942	33	4	1396	4	USP15	12	62778055	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	293	62778055	71073840	50	45926											
KCNC2	3747	broad.mit.edu	37	chr12	75601452	75601452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagacgcccgggtgccggtcGaagaagaactcgcggccgcc	9	3	15	14	7	0	3	0	0	0	3	2	4	0	3	4	3	2	0	4	3	4	0			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr12:75601452G>A	ENST00000549446.1	-	2	992	c.312C>T	c.(310-312)ttC>ttT	p.F104F	KCNC2_ENST00000540018.1_Silent_p.F104F|KCNC2_ENST00000341669.3_Silent_p.F104F|KCNC2_ENST00000393288.2_Silent_p.F104F|KCNC2_ENST00000550433.1_Silent_p.F104F|KCNC2_ENST00000548513.1_Silent_p.F104F|KCNC2_ENST00000298972.1_Silent_p.F104F|KCNC2_ENST00000350228.2_Silent_p.F104F	NM_001260497.1|NM_139137.3	NP_001247426.1|NP_631875.1	Q96PR1	KCNC2_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 2	104					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(28)|ovary(1)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	54						GGTGCCGGTCGAAGAAGAACT	0.716													A	75601452	G	A	75601452	2	1	504	1	0	0	0	0	0	0	0	1	8073	1049	37	1		1	KCNC2	12	75601452	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	12823397	75601452	58250443	51	45927											
WDHD1	11169	broad.mit.edu	37	chr14	55429521	55429521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcctcagcatcttcttcaActtgatttctgaaccttggt	7	17	6	11	0	5	2	2	2	3	0	6	2	6	2	2	1	3	1	2	1	2	5			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:55429521A>G	ENST00000360586.3	-	20	2647	c.2582T>C	c.(2581-2583)gTt>gCt	p.V861A	WDHD1_ENST00000420358.2_Missense_Mutation_p.V738A|WDHD1_ENST00000359167.4_Missense_Mutation_p.V379A|WDHD1_ENST00000421192.1_Missense_Mutation_p.V738A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	861						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ATCTTCTTCAACTTGATTTCT	0.368													G	55429521	A	G	55429521	3	3	504	1	0	0	0	0	1	0	0	0	17373	43	2	3	835	3	WDHD1	14	55429521	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08		55429521	51920019	52	45928											
AHNAK2	113146	broad.mit.edu	37	chr14	105413442	105413442	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctctcggggcctggacGtccacctccatgctggacag	5	10	12	14	2	1	0	0	0	1	0	4	2	3	2	4	4	2	2	4	4	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr14:105413442G>A	ENST00000333244.5	-	7	8465	c.8346C>T	c.(8344-8346)gaC>gaT	p.D2782D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2782						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCCTGGACGTCCACCTCCA	0.602													A	105413442	G	A	105413442	2	1	504	1	0	0	0	0	0	0	0	1	415	1136	40	1		1	AHNAK2	14	105413442	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	49983921	105413442	1936098	53	45929											
TJP1	7082	broad.mit.edu	37	chr15	30053922	30053922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgcctttagacctttctatCaatgtctttgcatctgtcaa	8	18	5	10	0	5	1	2	0	3	1	5	1	5	1	2	0	2	1	2	0	4	6			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr15:30053922C>G	ENST00000346128.6	-	7	1218	c.744G>C	c.(742-744)ttG>ttC	p.L248F	TJP1_ENST00000356107.6_Missense_Mutation_p.L248F|TJP1_ENST00000400011.2_Missense_Mutation_p.L252F|TJP1_ENST00000495972.2_Missense_Mutation_p.L248F|TJP1_ENST00000545208.2_Missense_Mutation_p.L248F	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	248	PDZ 2.				cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		ACCTTTCTATCAATGTCTTTG	0.338													G	30053922	C	G	30053922	3	3	504	1	0	0	0	0	1	0	0	0	16029	825	29	4	4590	4	TJP1	15	30053922	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		30053922	72477470	54	45930											
SLC7A5	8140	broad.mit.edu	37	chr16	87871512	87871512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggatcatggagaggatggagGgcaggtggccttcccgggac	8	6	19	8	1	1	1	1	0	0	1	2	6	2	5	2	8	0	1	2	8	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr16:87871512G>A	ENST00000261622.4	-	7	1144	c.1079C>T	c.(1078-1080)cCc>cTc	p.P360L	SLC7A5_ENST00000565644.1_Missense_Mutation_p.P94L	NM_003486.5	NP_003477.4	Q01650	LAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, L system), member 5	360					blood coagulation|cell differentiation|cellular amino acid metabolic process|ion transport|leukocyte migration|nervous system development	apical plasma membrane|cytosol|integral to membrane	neutral amino acid transmembrane transporter activity|peptide antigen binding			endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(80;0.049)		GAGGATGGAGGGCAGGTGGCC	0.647													A	87871512	G	A	87871512	3	1	504	1	0	0	0	0	1	0	0	0	14794	1232	43	2	460	2	SLC7A5	16	87871512	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		87871512	2483241	55	45931											
RNF112	7732	broad.mit.edu	37	chr17	19318138	19318138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgcaagggaagcgagcccGttgctgcctcttgcctgccc	5	8	13	15	2	1	0	0	0	1	0	1	2	1	1	4	1	7	4	4	1	2	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:19318138G>A	ENST00000461366.1	+	10	1279	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H		NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	355							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						AAGCGAGCCCGTTGCTGCCTC	0.617													A	19318138	G	A	19318138	3	1	504	1	0	0	0	0	1	0	0	0	13517	1145	40	1	812	1	RNF112	17	19318138	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		19318138	61877072	56	45932											
GGNBP2	79893	broad.mit.edu	37	chr17	34941754	34941754	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttcatagaaaatagcAgctgcaaagcctgtggcagc	14	7	10	10	0	1	2	1	0	0	2	1	2	1	2	1	1	5	4	1	1	5	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:34941754A>T	ENST00000304718.4	+	10	1556	c.1240A>T	c.(1240-1242)Agc>Tgc	p.S414C		NM_024835.3	NP_079111.1	Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	414					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		AGAAAATAGCAGCTGCAAAGC	0.378													T	34941754	A	T	34941754	3	4	504	1	0	0	0	0	1	0	0	0	6415	188	7	5	1274	5	GGNBP2	17	34941754	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	15623616	34941754	46253456	57	45933											
KRT25	147183	broad.mit.edu	37	chr17	38906791	38906791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgagcctggatctgcGccagctgcgcacagtagttg	7	9	13	12	3	2	1	0	1	2	0	2	3	2	2	2	1	4	4	2	1	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr17:38906791G>A	ENST00000312150.4	-	6	1076	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	339	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity	p.A339V(1)		endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CTGGATCTGCGCCAGCTGCGC	0.562													A	38906791	G	A	38906791	3	1	504	1	0	0	0	0	1	0	0	0	8520	1087	38	1	348	1	KRT25	17	38906791	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	3965037	38906791	42288419	58	45934											
SLC6A16	28968	broad.mit.edu	37	chr19	49793874	49793874	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctcacggtgcttgagtcCcaggacatgtaggtgatcgg	8	9	15	9	2	1	2	1	2	0	0	3	3	2	3	1	5	1	3	1	5	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr19:49793874C>T	ENST00000454748.3	-	11	2130	c.1929G>A	c.(1927-1929)tgG>tgA	p.W643*	SLC6A16_ENST00000335875.4_Nonsense_Mutation_p.W643*			Q9GZN6	S6A16_HUMAN	solute carrier family 6, member 16	643						integral to membrane|intracellular	neurotransmitter:sodium symporter activity			NS(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00099)|GBM - Glioblastoma multiforme(486;0.0336)		TGCTTGAGTCCCAGGACATGT	0.522													T	49793874	C	T	49793874	4	4	504	1	0	0	0	0	0	1	0	0	14773	624	22	2	289	2	SLC6A16	19	49793874	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		49793874	9335109	59	45935											
LAMA5	3911	broad.mit.edu	37	chr20	60909090	60909090	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggttcagcctggccacgatCctgggctgggtgggcatgga	6	8	17	10	1	1	0	1	0	0	0	2	2	2	1	3	6	1	3	3	6	0	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr20:60909090C>A	ENST00000252999.3	-	23	2811	c.2745G>T	c.(2743-2745)agG>agT	p.R915S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	915	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGGCCACGATCCTGGGCTGGG	0.672													A	60909090	C	A	60909090	3	1	504	1	0	0	0	0	1	0	0	0	8668	854	30	4	8574	4	LAMA5	20	60909090	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		60909090	2116430	60	45936											
RIPK4	54101	broad.mit.edu	37	chr21	43161696	43161696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgcagcaggatgcgcaCgatattctcctgcccgtgct	6	9	12	14	5	1	0	0	0	1	0	3	2	1	1	2	2	4	4	2	2	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:43161696C>T	ENST00000352483.2	-	9	1865	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	RIPK4_ENST00000544709.1_Missense_Mutation_p.V490M|RIPK4_ENST00000542057.1_Missense_Mutation_p.V490M|RIPK4_ENST00000332512.3_Missense_Mutation_p.V553M			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	553						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGGATGCGCACGATATTCTCC	0.662													T	43161696	C	T	43161696	3	4	504	1	0	0	0	0	1	0	0	0	13474	536	19	1	701	1	RIPK4	21	43161696	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		43161696	4968199	61	45937											
TRPM2	7226	broad.mit.edu	37	chr21	45861583	45861583	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcttccagaacctgcaCgcctgcgactcgggggcctc	5	10	11	15	3	1	1	0	0	1	1	4	2	2	1	4	2	3	2	4	2	1	3			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr21:45861583C>T	ENST00000397928.1	+	32	4840	c.4395C>T	c.(4393-4395)caC>caT	p.H1465H	TRPM2_ENST00000397932.2_Silent_p.H1515H|TRPM2_ENST00000300482.5_Silent_p.H1465H|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Silent_p.H1411H	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						AGAACCTGCACGCCTGCGACT	0.662													T	45861583	C	T	45861583	2	4	504	1	0	0	0	0	0	0	0	1	16687	535	19	1		1	TRPM2	21	45861583	Silent	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	2699887	45861583	2268312	62	45938											
ADRBK2	157	broad.mit.edu	37	chr22	26057597	26057597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctttgcagaagtcgaCaaatttatgatgcctacatc	12	11	7	11	2	0	2	0	1	0	1	2	3	0	2	3	0	3	1	3	0	4	4			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chr22:26057597C>T	ENST00000324198.6	+	4	511	c.319C>T	c.(319-321)Caa>Taa	p.Q107*		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		N-terminal.|RGS.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CAGAAGTCGACAAATTTATGA	0.343													T	26057597	C	T	26057597	4	4	504	1	0	0	0	0	0	1	0	0	344	479	17	2	333	2	ADRBK2	22	26057597	Nonsense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08		26057597	25246969	63	45939											
ZNF41	7592	broad.mit.edu	37	chrX	47308233	47308233	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttggatgtacatcaacctgGggtttctgggggaagacttt	8	13	13	7	0	2	1	1	0	1	1	2	3	2	3	1	5	2	2	1	5	3	4			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:47308233G>T	ENST00000377065.4	-	5	1575	c.936C>A	c.(934-936)ccC>ccA	p.P312P	ZNF41_ENST00000397050.2_Silent_p.P322P|ZNF41_ENST00000313116.7_Silent_p.P312P	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	354						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				CATCAACCTGGGGTTTCTGGG	0.423													T	47308233	G	T	47308233	2	4	504	1	0	0	0	0	0	0	0	1	17990	1219	43	4		4	ZNF41	23	47308233	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08		47308233	107962327	64	45940											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	11	14	8	8	0	3	2	1	1	2	1	3	2	3	2	1	1	4	1	1	1	4	3	rs61754468	by1000genomes	TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													C	73811938	G	C	73811938	2	2	504	1	0	0	0	0	0	0	0	1	13481	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	26503705	73811938	81458622	65	45941											
COL4A5	1287	broad.mit.edu	37	chrX	107683420	107683420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctgagtctttgggggcAgcctgcagaggctgcggtaa	6	8	17	10	1	1	2	0	1	1	1	1	2	1	2	2	5	3	4	2	5	1	2			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:107683420A>T	ENST00000328300.6	+	1	309	c.65A>T	c.(64-66)cAg>cTg	p.Q22L	COL4A5_ENST00000361603.2_Missense_Mutation_p.Q22L|COL4A5_ENST00000477429.1_3'UTR	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	22					axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						CTTTGGGGGCAGCCTGCAGAG	0.602									Alport syndrome with Diffuse Leiomyomatosis				T	107683420	A	T	107683420	3	4	504	1	0	0	0	0	1	0	0	0	3725	188	7	5	67	5	COL4A5	23	107683420	Missense_Mutation	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	33871482	107683420	47587140	66	45942											
MBNL3	55796	broad.mit.edu	37	chrX	131573638	131573638	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaacattgacagccgtcAtattgaaagcaaaattaaaa	18	8	8	7	1	1	2	1	2	0	0	1	2	1	2	1	1	3	2	1	1	7	4			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:131573638A>T	ENST00000370857.3	-	1	67	c.2T>A	c.(1-3)aTg>aAg	p.M1K	MBNL3_ENST00000370839.3_Start_Codon_SNP_p.M1K|MBNL3_ENST00000370844.1_Intron|MBNL3_ENST00000370853.3_Start_Codon_SNP_p.M1K			Q9NUK0	MBNL3_HUMAN	muscleblind-like splicing regulator 3	1					mRNA processing|multicellular organismal development|regulation of RNA splicing|RNA splicing	Golgi apparatus|nucleus	nucleic acid binding|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|prostate(2)	16	Acute lymphoblastic leukemia(192;0.000127)					GACAGCCGTCATATTGAAAGC	0.378													T	131573638	A	T	131573638	1	4	504	1	0	0	0	0	0	0	0	0	9430	217	8	5		5	MBNL3	23	131573638	Translation_Start_Site	SNP	A	TCGA-FG-A70Z-01A-12D-A33T-08	23890218	131573638	23696922	67	45943											
SLC6A8	6535	broad.mit.edu	37	chrX	152960346	152960346	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagggcaccatggctgaggTaaggctcccgcccggcccgc	7	4	14	16	3	0	1	0	1	0	0	1	1	1	1	4	5	0	4	4	5	2	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:152960346T>A	ENST00000253122.5	+	12	2243		c.e12+2		SLC6A8_ENST00000430077.2_Splice_Site|SLC6A8_ENST00000485324.1_Splice_Site	NM_001142805.1|NM_005629.3	NP_001136277.1|NP_005620.1	P48029	SC6A8_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 8						creatine metabolic process|muscle contraction	integral to plasma membrane	creatine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	13	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Creatine(DB00148)	ATGGCTGAGGTAAGGCTCCCG	0.692													A	152960346	T	A	152960346	5	1	504	1	0	0	0	0	0	0	1	0	14784	1652	57	5	1815	5	SLC6A8	23	152960346	Splice_Site	SNP	T	TCGA-FG-A70Z-01A-12D-A33T-08	21386708	152960346	2310214	68	45944											
FLNA	2316	broad.mit.edu	37	chrX	153599591	153599591	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgctgcgctctggcccGcccgagagtgggagctactc	4	7	14	16	4	1	1	0	0	1	1	2	3	1	2	3	2	4	3	3	2	1	1			TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:153599591G>A	ENST00000422373.1	-	2	271	c.23C>T	c.(22-24)gCg>gTg	p.A8V	FLNA_ENST00000344736.4_Missense_Mutation_p.A8V|FLNA_ENST00000369850.3_Missense_Mutation_p.A8V|FLNA_ENST00000360319.4_Missense_Mutation_p.A8V	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	8	Actin-binding.				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GCTCTGGCCCGCCCGAGAGTG	0.721													A	153599591	G	A	153599591	3	1	504	1	0	0	0	0	1	0	0	0	5982	1087	38	1	8108	1	FLNA	23	153599591	Missense_Mutation	SNP	G	TCGA-FG-A70Z-01A-12D-A33T-08	639245	153599591	1670969	69	45945											
F8	2157	broad.mit.edu	37	chrX	154157638	154157638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccccagggagccaacctctCtttgatcaccagtcatctcc	8	10	6	17	0	4	1	2	1	2	0	7	2	5	2	6	1	2	0	6	1	1	1	rs142955808		TCGA-FG-A70Z-01A-12D-A33T-08	TCGA-FG-A70Z-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	035c8e60-9e26-4ec3-a634-7ec95258faf5	67a7635e-6337-4ac9-967a-5b08e4d76db1	g.chrX:154157638C>T	ENST00000360256.4	-	14	4627	c.4427G>A	c.(4426-4428)aGa>aAa	p.R1476K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1476	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	GCCAACCTCTCTTTGATCACC	0.438													T	154157638	C	T	154157638	3	4	504	1	0	0	0	0	1	0	0	0	5392	913	32	2	2708	2	F8	23	154157638	Missense_Mutation	SNP	C	TCGA-FG-A70Z-01A-12D-A33T-08	558047	154157638	1112922	70	45946											
ARID1A	8289	broad.mit.edu	37	chr1	27058039	27058040	+	Frame_Shift_Del	DEL	CA	CA	-																															aggctgcgtatcctcagcccCagtctcagcagtcccagcaa																										TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:27058039_27058040delCA	ENST00000324856.7	+	3	2118_2119	c.1747_1748delCA	c.(1747-1749)cagfs	p.Q583fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Q583fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Q200fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	583					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCCTCAGCCCCAGTCTCAGCAG	0.609			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27058040	CA	-	27058039	7	5	505	1	0	1	0	1	0	0	0	0	916	595	21	0	1757	0	ARID1A	1	27058039	Frame_Shift_Del	DEL	CA	TCGA-FG-A710-01A-12D-A33T-08		27058039	222192582	1	45947											
PODN	127435	broad.mit.edu	37	chr1	53535555	53535557	+	In_Frame_Del	DEL	CTG	CTG	-																															agagccgggtgctgctgctcCtgctgctgctgccgccacag																										TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:53535555_53535557delCTG	ENST00000371500.3	+	4	456_458	c.115_117delCTG	c.(115-117)ctgdel	p.L42del	PODN_ENST00000312553.5_In_Frame_Del_p.L61del|PODN_ENST00000395871.2_In_Frame_Del_p.L61del	NM_001199080.1	NP_001186009.1	Q7Z5L7	PODN_HUMAN	podocan	13					negative regulation of cell migration|negative regulation of cell proliferation	cytoplasm|extracellular space|proteinaceous extracellular matrix	collagen binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						gctgctgctcctgctgctgctgc	0.685													-	53535557	CTG	-	53535555	7	5	505	1	0	1	0	1	0	0	0	0	12255	680	24	0	178	0	PODN	1	53535555	In_Frame_Del	DEL	CTG	TCGA-FG-A710-01A-12D-A33T-08	26477516	53535555	195715066	2	45948											
FUBP1	8880	broad.mit.edu	37	chr1	78429830	78429830	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatttgtgctatcctttCgggtgttgtcccatcatctt	4	20	8	9	1	2	0	1	0	1	0	5	0	4	0	2	1	1	3	2	1	2	6			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:78429830C>A	ENST00000370767.1	-	12	1045	c.958G>T	c.(958-960)Gaa>Taa	p.E320*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E320*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E341*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	320	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTATCCTTTCGGGTGTTGTC	0.348			"F, N"		oligodendroglioma								A	78429830	C	A	78429830	4	1	505	1	0	0	0	0	0	1	0	0	6144	893	31	4	1012	4	FUBP1	1	78429830	Nonsense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	24894275	78429830	170820791	3	45949											
AQP10	89872	broad.mit.edu	37	chr1	154294528	154294528	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatctacgtgggtggtaaCgtctcaggtgaggagggtgg	7	9	18	7	2	2	1	1	1	2	0	3	2	2	2	1	6	2	1	1	6	2	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:154294528C>T	ENST00000484864.1	+	2	261	c.225C>T	c.(223-225)aaC>aaT	p.N75N	AQP10_ENST00000355197.4_Intron|AQP10_ENST00000324978.3_Silent_p.N75N			Q96PS8	AQP10_HUMAN	aquaporin 10	75					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TGGGTGGTAACGTCTCAGGTG	0.547													T	154294528	C	T	154294528	2	4	505	1	0	0	0	0	0	0	0	1	825	535	19	1		1	AQP10	1	154294528	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	75864698	154294528	94956093	4	45950											
SOAT1	6646	broad.mit.edu	37	chr1	179314136	179314136	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgaaaggctttgtgcccccTtgtttcggaatatcaaacag	10	13	9	9	1	1	1	1	1	0	0	2	2	1	2	2	2	2	2	2	2	4	5			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr1:179314136T>C	ENST00000367619.3	+	11	1185	c.1042T>C	c.(1042-1044)Ttg>Ctg	p.L348L	SOAT1_ENST00000539888.1_Silent_p.L283L|SOAT1_ENST00000540564.1_Silent_p.L290L|SOAT1_ENST00000535686.1_Silent_p.L84L	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	348					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTGTGCCCCCTTGTTTCGGAA	0.408													C	179314136	T	C	179314136	2	2	505	1	0	0	0	0	0	0	0	1	15004	1606	56	3		3	SOAT1	1	179314136	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	25019608	179314136	69936485	5	45951											
DNMT3A	1788	broad.mit.edu	37	chr2	25463299	25463299	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggaggcggtagaactcaaAgaagagccggccagtgccct	12	4	14	11	2	1	3	1	0	0	3	1	4	1	4	3	4	3	1	3	4	4	1	rs149043640		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:25463299A>G	ENST00000264709.3	-	19	2531	c.2194T>C	c.(2194-2196)Ttt>Ctt	p.F732L	DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Missense_Mutation_p.F543L|DNMT3A_ENST00000402667.1_Missense_Mutation_p.F509L|DNMT3A_ENST00000321117.5_Missense_Mutation_p.F732L	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	732					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAACTCAAAGAAGAGCCGG	0.607			"Mis, F, N, S"		AML								G	25463299	A	G	25463299	3	3	505	1	0	0	0	0	1	0	0	0	4715	72	3	3	564	3	DNMT3A	2	25463299	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08		25463299	217736074	6	45952											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135922204	135922204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcctgaagtgttagtcAccggtgcaggaagaggacat	12	7	14	8	1	1	2	1	1	0	1	1	4	1	4	2	3	3	3	2	3	3	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:135922204A>G	ENST00000264158.8	+	23	2690	c.2647A>G	c.(2647-2649)Acc>Gcc	p.T883A	ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.T839A|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.T883A	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	883						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AGTGTTAGTCACCGGTGCAGG	0.512													G	135922204	A	G	135922204	3	3	505	1	0	0	0	0	1	0	0	0	13023	159	6	3	2737	3	RAB3GAP1	2	135922204	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	110458905	135922204	107277169	7	45953											
CIR1	9541	broad.mit.edu	37	chr2	175243709	175243709	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaaagaccaaacaaaggacaTtctcgatctgtgttgacatg	15	9	9	8	1	2	2	0	1	2	1	3	5	2	3	1	1	1	1	1	1	3	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:175243709T>C	ENST00000342016.3	-	7	518	c.426A>G	c.(424-426)gaA>gaG	p.E142E	CIR1_ENST00000362053.5_Silent_p.E142E	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	142					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						ACAAAGGACATTCTCGATCTG	0.403													C	175243709	T	C	175243709	2	2	505	1	0	0	0	0	0	0	0	1	3462	1490	52	3		3	CIR1	2	175243709	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	39321505	175243709	67955664	8	45954											
PLEKHM3	389072	broad.mit.edu	37	chr2	208725913	208725913	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccttctggctacaaagaCtgcagctgtacacgtgtgag	10	9	10	12	1	1	2	0	1	1	1	1	2	1	2	2	1	4	4	2	1	3	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:208725913C>T	ENST00000427836.2	-	7	2513	c.2024G>A	c.(2023-2025)aGt>aAt	p.S675N	PLEKHM3_ENST00000389247.4_Missense_Mutation_p.S675N	NM_001080475.2	NP_001073944.1	Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	675					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTACAAAGACTGCAGCTGTA	0.438													T	208725913	C	T	208725913	3	4	505	1	0	0	0	0	1	0	0	0	12159	565	20	2	269	2	PLEKHM3	2	208725913	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	33482204	208725913	34473460	9	45955											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	505	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	387199	209113112	34086261	10	45956											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69097010	69097010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccattgcatgctggcCtgccatggccatgccccctc	4	11	8	18	0	0	0	0	0	0	0	2	0	1	0	7	2	4	2	7	2	0	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr4:69097010C>T	ENST00000332644.5	-	7	758	c.597G>A	c.(595-597)caG>caA	p.Q199Q		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	199	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						GCATGCTGGCCTGCCATGGCC	0.493													T	69097010	C	T	69097010	2	4	505	1	0	0	0	0	0	0	0	1	16340	680	24	2		2	TMPRSS11B	4	69097010	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		69097010	122057266	11	45957											
PJA2	9867	broad.mit.edu	37	chr5	108714431	108714431	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agacctctgaatttcctggcTattctgatggacaaactcag	11	12	8	10	0	3	3	1	2	2	1	4	4	4	4	2	2	1	1	2	2	3	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:108714431T>C	ENST00000361189.2	-	4	996	c.757A>G	c.(757-759)Agc>Ggc	p.S253G	PJA2_ENST00000361557.3_Missense_Mutation_p.S253G	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	253					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ATTTCCTGGCTATTCTGATGG	0.383													C	108714431	T	C	108714431	3	2	505	1	0	0	0	0	1	0	0	0	12039	1522	53	3	1397	3	PJA2	5	108714431	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		108714431	72200829	12	45958											
PCDHA3	56145	broad.mit.edu	37	chr5	140182636	140182636	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgggaccggcggtgcGcgcatcccgtttcgcgtggg	3	7	17	14	7	0	0	0	0	0	0	2	1	1	1	3	4	2	2	3	4	0	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr5:140182636G>A	ENST00000522353.2	+	1	1854	c.1854G>A	c.(1852-1854)gcG>gcA	p.A618A	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Silent_p.A618A|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGCGGTGCGCGCATCCCGT	0.672													A	140182636	G	A	140182636	2	1	505	1	0	0	0	0	0	0	0	1	11601	1074	38	1		1	PCDHA3	5	140182636	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	31468205	140182636	40732624	13	45959											
HIST1H2AM	8336	broad.mit.edu	37	chr6	27860923	27860923	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccctgcttgccacgtccaGacatggtaaaacgacctgtg	9	8	10	14	3	0	1	0	0	0	1	1	2	1	1	4	1	3	2	4	1	2	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:27860923G>C	ENST00000359611.2	-	1	40	c.5C>G	c.(4-6)tCt>tGt	p.S2C		NM_003514.2	NP_003505.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2am	2					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(2)	14						GCCACGTCCAGACATGGTAAA	0.572													C	27860923	G	C	27860923	3	2	505	1	0	0	0	0	1	0	0	0	7194	942	33	4	391	4	HIST1H2AM	6	27860923	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		27860923	143254144	14	45960											
ZBTB9	221504	broad.mit.edu	37	chr6	33423477	33423477	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctgtgggaggggagggAagtgaactgggagaagtgct	10	6	20	5	0	0	2	0	1	0	1	0	6	0	5	1	5	3	1	1	5	3	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr6:33423477A>C	ENST00000395064.2	+	2	868	c.600A>C	c.(598-600)ggA>ggC	p.G200G		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	200					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						GAGGGGAGGGAAGTGAACTGG	0.552													C	33423477	A	C	33423477	2	2	505	1	0	0	0	0	0	0	0	1	17659	233	9	5		5	ZBTB9	6	33423477	Silent	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	5562554	33423477	137691590	15	45961											
SLC7A13	157724	broad.mit.edu	37	chr8	87241960	87241960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcctttttccctcttaTcaggaacactactccagtta	9	16	3	13	0	3	0	1	0	2	0	6	1	5	1	3	1	2	1	3	1	4	6			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:87241960T>C	ENST00000297524.3	-	1	650	c.547A>G	c.(547-549)Ata>Gta	p.I183V	SLC7A13_ENST00000520624.1_Intron|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I183V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	183						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						TTCCCTCTTATCAGGAACACT	0.408													C	87241960	T	C	87241960	3	2	505	1	0	0	0	0	1	0	0	0	14789	1435	50	3	881	3	SLC7A13	8	87241960	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		87241960	59122062	16	45962											
KCNQ3	3786	broad.mit.edu	37	chr8	133141584	133141584	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgacagaggcatggagccGctgggcgtgaaggggtccgt	8	5	19	9	4	0	2	0	1	0	1	1	5	1	3	2	5	1	2	2	5	1	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:133141584G>A	ENST00000388996.4	-	15	2964	c.2544C>T	c.(2542-2544)agC>agT	p.S848S	KCNQ3_ENST00000519445.1_Silent_p.S836S|KCNQ3_ENST00000521134.1_Silent_p.S728S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	848					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GCATGGAGCCGCTGGGCGTGA	0.582													A	133141584	G	A	133141584	2	1	505	1	0	0	0	0	0	0	0	1	8142	1078	38	1		1	KCNQ3	8	133141584	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	45899624	133141584	13222438	17	45963											
RECQL4	9401	broad.mit.edu	37	chr8	145738653	145738653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccgtcacgcccggccCggcccacggcctgcacgtag	4	4	13	20	6	1	0	1	0	0	0	1	0	1	0	5	3	2	3	5	3	1	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr8:145738653C>T	ENST00000428558.2	-	15	2452	c.2411G>A	c.(2410-2412)cGg>cAg	p.R804Q	CTD-2517M22.17_ENST00000580385.1_RNA|RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	804	Helicase C-terminal.				DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			ACGCCCGGCCCGGCCCACGGC	0.716			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				T	145738653	C	T	145738653	3	4	505	1	0	0	0	0	1	0	0	0	13290	639	23	1	1247	1	RECQL4	8	145738653	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	12597069	145738653	625369	18	45964											
VPS13A	23230	broad.mit.edu	37	chr9	79853107	79853107	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaaatcatatatgatgcAgtaagcatttttttaaatta	16	17	5	3	0	1	2	1	1	0	1	1	2	1	2	0	0	2	3	0	0	8	9			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:79853107A>C	ENST00000360280.3	+	18	2045	c.1785A>C	c.(1783-1785)gcA>gcC	p.A595A	VPS13A_ENST00000376636.3_Splice_Site_p.A595A|VPS13A_ENST00000376634.4_Splice_Site_p.A595A|VPS13A_ENST00000357409.5_Splice_Site_p.A595A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	595					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATATGATGCAGTAAGCATTT	0.274													C	79853107	A	C	79853107	5	2	505	1	0	0	0	0	0	0	1	0	17291	202	7	5	1855	5	VPS13A	9	79853107	Splice_Site	SNP	A	TCGA-FG-A710-01A-12D-A33T-08		79853107	61360324	19	45965											
NOTCH1	4851	broad.mit.edu	37	chr9	139399934	139399934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaccgccgtcccagccgcAcgcgtggttgttgcactgca	5	8	12	16	5	1	0	1	0	0	0	2	0	2	0	4	1	3	5	4	1	0	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr9:139399934A>G	ENST00000277541.6	-	25	4489	c.4414T>C	c.(4414-4416)Tgc>Cgc	p.C1472R		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1472					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCCCAGCCGCACGCGTGGTTG	0.642			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G	139399934	A	G	139399934	3	3	505	1	0	0	0	0	1	0	0	0	10623	159	6	3	3293	3	NOTCH1	9	139399934	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	59546827	139399934	1813497	20	45966											
HPS1	3257	broad.mit.edu	37	chr10	100185417	100185417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cccttccttcagcttcttctCcagcatggagaagccatcca	8	11	6	16	0	3	1	1	0	2	1	6	2	5	1	5	1	3	2	5	1	1	4			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:100185417C>T	ENST00000325103.6	-	13	1449	c.1216G>A	c.(1216-1218)Gag>Aag	p.E406K	HPS1_ENST00000361490.4_Missense_Mutation_p.E406K|HPS1_ENST00000467246.1_5'UTR	NM_000195.3	NP_000186.2	Q92902	HPS1_HUMAN	Hermansky-Pudlak syndrome 1	406					lysosome organization|response to stimulus|visual perception	cytoplasmic membrane-bounded vesicle|integral to plasma membrane|lysosome|membrane fraction|soluble fraction	protein dimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23		Colorectal(252;0.234)		Epithelial(162;3.87e-12)|all cancers(201;5.63e-10)		AGCTTCTTCTCCAGCATGGAG	0.667									Hermansky-Pudlak syndrome		OREG0020430	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	100185417	C	T	100185417	3	4	505	1	0	0	0	0	1	0	0	0	7394	864	30	2	918	2	HPS1	10	100185417	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		100185417	35349330	21	45967											
PAX2	5076	broad.mit.edu	37	chr10	102509607	102509607	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggcccaccagggtgtgCggccctgtgacatctcccgg	5	7	14	15	2	1	1	0	1	1	0	2	1	1	1	4	4	2	1	4	4	0	0	rs76675173		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr10:102509607C>T	ENST00000370296.2	+	2	698	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	PAX2_ENST00000361791.3_Missense_Mutation_p.R50W|PAX2_ENST00000355243.3_Missense_Mutation_p.R50W|PAX2_ENST00000556085.1_Missense_Mutation_p.R49W|PAX2_ENST00000553492.1_Intron|PAX2_ENST00000428433.1_Missense_Mutation_p.R50W			Q02962	PAX2_HUMAN	paired box 2	50	Paired.				anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		CCAGGGTGTGCGGCCCTGTGA	0.687													T	102509607	C	T	102509607	3	4	505	1	0	0	0	0	1	0	0	0	11555	759	27	1	154	1	PAX2	10	102509607	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	2324190	102509607	33025140	22	45968											
MUC5B	727897	broad.mit.edu	37	chr11	1269135	1269135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccactgccccagcaccccGgccaccagctctacggccac	7	3	9	22	2	1	0	0	0	1	0	1	0	1	0	8	3	4	2	8	3	1	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:1269135G>A	ENST00000447027.1	+	31	11092	c.11034G>A	c.(11032-11034)ccG>ccA	p.P3678P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.P3675P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3675	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGCACCCCGGCCACCAGCT	0.587													A	1269135	G	A	1269135	2	1	505	1	0	0	0	0	0	0	0	1	10055	1103	39	1		1	MUC5B	11	1269135	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		1269135	133737381	23	45969											
OR1S1	219959	broad.mit.edu	37	chr11	57982721	57982721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcctcagtaatattattGctctgacacacacccttctg	9	14	6	12	0	3	1	1	1	2	0	4	1	4	1	2	1	1	3	2	1	3	6			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr11:57982721G>A	ENST00000309433.6	+	1	505	c.505G>A	c.(505-507)Gct>Act	p.A169T		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				TAATATTATTGCTCTGACACA	0.478													A	57982721	G	A	57982721	3	1	505	1	0	0	0	0	1	0	0	0	11048	1319	46	2	507	2	OR1S1	11	57982721	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	56713586	57982721	77023795	24	45970											
DDX47	51202	broad.mit.edu	37	chr12	12982412	12982414	+	In_Frame_Del	DEL	ATG	ATG	-																															gcgagaggatgctggagataAtgatgacacagagggtgcta																										TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:12982412_12982414delATG	ENST00000358007.3	+	12	1314_1316	c.1292_1294delATG	c.(1291-1296)aatgat>aat	p.D433del	DDX47_ENST00000352940.4_In_Frame_Del_p.D384del	NM_016355.3	NP_057439.2	Q9H0S4	DDX47_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 47	433						nucleolus	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		Prostate(47;0.0526)		BRCA - Breast invasive adenocarcinoma(232;0.0354)		GCTGGAGATAATGATGACACAGA	0.453													-	12982414	ATG	-	12982412	7	5	505	1	0	1	0	1	0	0	0	0	4399	101	4	0	1338	0	DDX47	12	12982412	In_Frame_Del	DEL	ATG	TCGA-FG-A710-01A-12D-A33T-08		12982412	120869483	25	45971											
SYT10	341359	broad.mit.edu	37	chr12	33560040	33560040	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagcagggagatctaaagctTtgataattttaacaactaga	16	12	8	5	0	1	3	0	1	1	2	1	4	1	3	0	1	4	2	0	1	7	7			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:33560040T>C	ENST00000228567.3	-	3	1057	c.761A>G	c.(760-762)aAa>aGa	p.K254R	SYT10_ENST00000535526.1_Missense_Mutation_p.K73R	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	254	C2 1.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					ATCTAAAGCTTTGATAATTTT	0.378													C	33560040	T	C	33560040	3	2	505	1	0	0	0	0	1	0	0	0	15563	1841	64	3	830	3	SYT10	12	33560040	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	20577628	33560040	100291855	26	45972											
OR10A7	121364	broad.mit.edu	37	chr12	55615263	55615263	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cataggctcttggatgtccgGtgttcctgtgtctatgctac	5	15	11	10	1	2	0	0	0	2	0	4	1	4	1	2	3	2	3	2	3	3	5			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:55615263G>C	ENST00000326258.1	+	1	455	c.455G>C	c.(454-456)gGt>gCt	p.G152A		NM_001005280.1	NP_001005280.1	Q8NGE5	O10A7_HUMAN	olfactory receptor, family 10, subfamily A, member 7	152					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|lung(11)|ovary(4)|prostate(2)|skin(3)	24						TGGATGTCCGGTGTTCCTGTG	0.493													C	55615263	G	C	55615263	3	2	505	1	0	0	0	0	1	0	0	0	10971	1261	44	4	457	4	OR10A7	12	55615263	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	22055223	55615263	78236632	27	45973											
OSBPL8	114882	broad.mit.edu	37	chr12	76881291	76881291	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatatatgaactactcaccGaagttcgatcaggttctcca	12	12	6	11	2	4	1	3	1	1	0	6	3	4	1	2	1	2	2	2	1	5	5	rs142756436		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:76881291G>T	ENST00000261183.3	-	2	520	c.41C>A	c.(40-42)tCg>tAg	p.S14*	OSBPL8_ENST00000393249.2_5'UTR|OSBPL8_ENST00000393250.4_5'UTR	NM_020841.4	NP_065892.1	Q9BZF1	OSBL8_HUMAN	oxysterol binding protein-like 8	14					lipid transport		lipid binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(2)	28						ACTACTCACCGAAGTTCGATC	0.353													T	76881291	G	T	76881291	5	4	505	1	0	0	0	0	0	0	1	0	11359	1072	37	4	2720	4	OSBPL8	12	76881291	Splice_Site	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	21266028	76881291	56970604	28	45974											
ZNF268	10795	broad.mit.edu	37	chr12	133779622	133779622	+	Frame_Shift_Del	DEL	A	A	-																															tatgtttgtagtgattgtggAaaagcctttacattcaagtc																								rs141481798	by1000genomes	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr12:133779622delA	ENST00000536435.2	+	6	1680	c.1350delA	c.(1348-1350)ggafs	p.G450fs	ZNF268_ENST00000541009.2_3'UTR|ZNF268_ENST00000537565.1_Frame_Shift_Del_p.G289fs|ZNF268_ENST00000542986.2_3'UTR|ZNF268_ENST00000536899.2_3'UTR|ZNF268_ENST00000228289.5_Frame_Shift_Del_p.G450fs	NM_001165885.1|NM_003415.2	NP_001159357.1|NP_003406.1	Q14587	ZN268_HUMAN	zinc finger protein 268	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(3)|endometrium(4)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(1)	24	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_cancers(7;0.000215)|all_epithelial(31;0.096)		OV - Ovarian serous cystadenocarcinoma(86;3.58e-08)|Epithelial(86;6.6e-07)|all cancers(50;2.28e-05)		GTGATTGTGGAAAAGCCTTTA	0.398													-	133779622	A	-	133779622	7	5	505	1	0	1	0	1	0	0	0	0	17908	233	9	0		0	ZNF268	12	133779622	Frame_Shift_Del	DEL	A	TCGA-FG-A710-01A-12D-A33T-08	56898331	133779622	72273	29	45975											
SLC25A15	10166	broad.mit.edu	37	chr13	41379349	41379349	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgccggctgcagaccaTgtatgagatggagacatcag	12	7	14	8	1	1	3	1	1	0	3	1	6	1	3	2	2	2	3	2	2	2	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:41379349T>C	ENST00000338625.4	+	4	646	c.410T>C	c.(409-411)aTg>aCg	p.M137T	SLC25A15_ENST00000478827.1_3'UTR	NM_014252.3	NP_055067.1	Q9Y619	ORNT1_HUMAN	solute carrier family 25 (mitochondrial carrier; ornithine transporter) member 15	137					cellular amino acid metabolic process|mitochondrial ornithine transport|urea cycle	integral to membrane|mitochondrial inner membrane	L-ornithine transmembrane transporter activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|stomach(1)|urinary_tract(1)	14		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.48e-08)|Epithelial(112;7.51e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000191)|GBM - Glioblastoma multiforme(144;0.00231)|BRCA - Breast invasive adenocarcinoma(63;0.0704)	L-Ornithine(DB00129)	CTGCAGACCATGTATGAGATG	0.542													C	41379349	T	C	41379349	3	2	505	1	0	0	0	0	1	0	0	0	14571	1464	51	3	420	3	SLC25A15	13	41379349	Missense_Mutation	SNP	T	TCGA-FG-A710-01A-12D-A33T-08		41379349	73790529	30	45976											
TDRD3	81550	broad.mit.edu	37	chr13	61083925	61083925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaagctctgaagcacataaCggaaatgggcttcagtaagg	15	7	12	7	1	2	1	1	1	1	0	2	3	2	2	0	3	3	4	0	3	5	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr13:61083925C>T	ENST00000196169.3	+	9	1396	c.608C>T	c.(607-609)aCg>aTg	p.T203M	TDRD3_ENST00000377894.2_Missense_Mutation_p.T203M|TDRD3_ENST00000535286.1_Missense_Mutation_p.T296M|TDRD3_ENST00000377881.2_Missense_Mutation_p.T203M	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	203	UBA.				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	p.T203fs*21(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		AAGCACATAACGGAAATGGGC	0.418													T	61083925	C	T	61083925	3	4	505	1	0	0	0	0	1	0	0	0	15832	536	19	1	921	1	TDRD3	13	61083925	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	19704576	61083925	54085953	31	45977											
ABCC11	85320	broad.mit.edu	37	chr16	48204026	48204026	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctcaccttggagttgCgaagcacagccctggcaatg	8	8	13	12	1	1	0	1	0	0	0	1	2	1	1	3	3	3	3	3	3	2	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:48204026C>T	ENST00000394747.1	-	27	4230	c.3881G>A	c.(3880-3882)cGc>cAc	p.R1294H	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000353782.5_Intron|ABCC11_ENST00000394748.1_Missense_Mutation_p.R1294H|ABCC11_ENST00000356608.2_Missense_Mutation_p.R1294H	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1294	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	p.R1294H(1)		breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				CTTGGAGTTGCGAAGCACAGC	0.577													T	48204026	C	T	48204026	3	4	505	1	0	0	0	0	1	0	0	0	51	768	27	1	279	1	ABCC11	16	48204026	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		48204026	42150727	32	45978											
WDR59	79726	broad.mit.edu	37	chr16	74943721	74943721	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcatgcttcccaccAcaaaggactcaaggcaggag	13	7	9	12	0	2	0	2	0	0	0	3	2	3	2	2	3	1	3	2	3	2	2	rs5023505		TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr16:74943721A>G	ENST00000262144.6	-	15	1614	c.1484T>C	c.(1483-1485)gTg>gCg	p.V495A		NM_030581.3	NP_085058.3	Q6PJI9	WDR59_HUMAN	WD repeat domain 59	495										breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(1)	27						GCTTCCCACCACAAAGGACTC	0.498													G	74943721	A	G	74943721	5	3	505	1	0	0	0	0	0	0	1	0	17410	173	6	3	1488	3	WDR59	16	74943721	Splice_Site	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	26739695	74943721	15411032	33	45979											
MYH1	4619	broad.mit.edu	37	chr17	10401968	10401968	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctctgtgcGctggatggcatctgtctcat	4	13	9	15	1	3	0	1	0	3	0	7	1	6	1	3	2	2	3	3	2	0	0	rs142884848	byFrequency	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:10401968G>A	ENST00000226207.5	-	30	4250	c.4156C>T	c.(4156-4158)Cgc>Tgc	p.R1386C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1386						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCCTCTGTGCGCTGGATGGCA	0.483													A	10401968	G	A	10401968	3	1	505	1	0	0	0	0	1	0	0	0	10105	1087	38	1	1707	1	MYH1	17	10401968	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		10401968	70793242	34	45980											
ELAC2	60528	broad.mit.edu	37	chr17	12908353	12908353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgaatgaagctttcatcTggacattctaccaccacaaa	13	11	7	10	0	3	2	1	2	2	0	3	3	3	3	2	2	2	2	2	2	4	4			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:12908353T>C	ENST00000338034.4	-	11	1175	c.936A>G	c.(934-936)ccA>ccG	p.P312P	ELAC2_ENST00000609345.1_5'UTR|ELAC2_ENST00000426905.3_Silent_p.P272P|ELAC2_ENST00000395962.2_Silent_p.P293P	NM_018127.6|NM_173717.1	NP_060597.4|NP_776065.1	Q9BQ52	RNZ2_HUMAN	elaC ribonuclease Z 2	312					tRNA processing	nucleus	endonuclease activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|skin(1)	23						AGCTTTCATCTGGACATTCTA	0.512													C	12908353	T	C	12908353	2	2	505	1	0	0	0	0	0	0	0	1	5088	1567	55	3		3	ELAC2	17	12908353	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	2506385	12908353	68286857	35	45981											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274491	39274491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcacagcagctggggCggcagcaggtctcctggcag	6	7	16	12	1	2	0	1	0	2	0	4	0	2	0	1	6	3	5	1	6	0	0	rs113376601	by1000genomes	TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39274491C>T	ENST00000391413.2	-	1	115	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	26	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGGCAGCAGGT	0.627													T	39274491	C	T	39274491	3	4	505	1	0	0	0	0	1	0	0	0	8608	768	27	1	514	1	KRTAP4-11	17	39274491	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	26366138	39274491	41920719	36	45982											
HAP1	9001	broad.mit.edu	37	chr17	39884518	39884518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgacctcctgctgctgccGttcatagttttccagcctga	6	12	9	14	2	1	1	1	1	0	0	3	2	3	1	5	0	5	4	5	0	1	4			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:39884518G>A	ENST00000393939.2	-	7	1144	c.1135C>T	c.(1135-1137)Cgg>Tgg	p.R379W	HAP1_ENST00000310778.5_Missense_Mutation_p.R379W|HAP1_ENST00000341193.5_Missense_Mutation_p.R387W|JUP_ENST00000540235.1_Intron|HAP1_ENST00000347901.4_Missense_Mutation_p.R379W			P54257	HAP1_HUMAN	huntingtin-associated protein 1	379	Glu-rich.|HAP1 N-terminal.				brain development|protein localization|synaptic transmission	actin cytoskeleton	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(4)|skin(1)	21		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TGCTGCTGCCGTTCATAGTTT	0.652													A	39884518	G	A	39884518	3	1	505	1	0	0	0	0	1	0	0	0	7008	1144	40	1	744	1	HAP1	17	39884518	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	610027	39884518	41310692	37	45983											
COL1A1	1277	broad.mit.edu	37	chr17	48265901	48265901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacttacagtctcaccaCgatcaccactcttgccagca	11	9	5	16	1	3	0	2	0	2	0	4	1	3	0	3	0	5	2	3	0	2	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:48265901C>T	ENST00000225964.5	-	43	3315	c.3197G>A	c.(3196-3198)cGt>cAt	p.R1066H		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1066	Triple-helical region.		R -> C (in a patient with overlapping features of osteogenesis imperfecta and Ehlers-Danlos syndrome; pathogenic mutation; affects dimer formation, helix stability and organization of collagen fibrils).		axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	AGTCTCACCACGATCACCACT	0.652			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						T	48265901	C	T	48265901	3	4	505	1	0	0	0	0	1	0	0	0	3708	536	19	1	1233	1	COL1A1	17	48265901	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	8381383	48265901	32929309	38	45984											
LRRC45	201255	broad.mit.edu	37	chr17	79988540	79988540	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggagagcgagaacgcgtcTctccgggagaagctgcggct	9	5	17	10	5	1	3	0	0	1	3	3	6	2	3	1	3	4	2	1	3	2	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr17:79988540T>C	ENST00000306688.3	+	17	2214	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S		NM_144999.2	NP_659436.1	Q96CN5	LRC45_HUMAN	leucine rich repeat containing 45	624						centrosome				lung(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	5	all_neural(118;0.0878)|Ovarian(332;0.12)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0191)			AGAACGCGTCTCTCCGGGAGA	0.701													C	79988540	T	C	79988540	2	2	505	1	0	0	0	0	0	0	0	1	9072	1538	54	3		3	LRRC45	17	79988540	Silent	SNP	T	TCGA-FG-A710-01A-12D-A33T-08	31722639	79988540	1206670	39	45985											
ANKRD29	147463	broad.mit.edu	37	chr18	21226219	21226219	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacagtctatgtggccagcGtaggcagcaaccatcaggag	12	6	12	11	1	2	0	1	0	1	0	2	1	2	1	2	3	3	3	2	3	3	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr18:21226219G>A	ENST00000592179.1	-	3	319	c.165C>T	c.(163-165)taC>taT	p.Y55Y	ANKRD29_ENST00000322980.9_Silent_p.Y55Y|ANKRD29_ENST00000284207.7_Silent_p.Y55Y	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29	55										breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					TGTGGCCAGCGTAGGCAGCAA	0.512													A	21226219	G	A	21226219	2	1	505	1	0	0	0	0	0	0	0	1	657	1140	40	1		1	ANKRD29	18	21226219	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		21226219	56851029	40	45986											
SEMA6B	10501	broad.mit.edu	37	chr19	4550875	4550875	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggggacttctgctctcGgaagcggccttcaaacacag	8	8	12	13	3	3	0	1	0	2	0	5	2	3	2	1	4	3	1	1	4	2	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:4550875G>A	ENST00000586582.1	-	11	1367	c.1057C>T	c.(1057-1059)Cga>Tga	p.R353*	SEMA6B_ENST00000586965.1_Nonsense_Mutation_p.R353*|SEMA6B_ENST00000301293.3_Nonsense_Mutation_p.R353*	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	353	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TTCTGCTCTCGGAAGCGGCCT	0.627													A	4550875	G	A	4550875	4	1	505	1	0	0	0	0	0	1	0	0	14133	1124	39	1	1637	1	SEMA6B	19	4550875	Nonsense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		4550875	54578108	41	45987											
CHST8	64377	broad.mit.edu	37	chr19	34180275	34180275	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcctgcaggaccctacggaGctcgccccccagcaggtgcc	7	4	12	18	2	0	0	0	0	0	0	1	2	0	2	6	3	6	3	6	3	1	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:34180275G>T	ENST00000262622.4	+	2	866	c.108G>T	c.(106-108)gaG>gaT	p.E36D	CHST8_ENST00000434302.1_Missense_Mutation_p.E36D|CHST8_ENST00000604556.1_3'UTR|CHST8_ENST00000438847.3_Missense_Mutation_p.E36D	NM_022467.3	NP_071912.2	Q9H2A9	CHST8_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8						carbohydrate biosynthetic process|central nervous system development|hormone biosynthetic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi membrane|integral to membrane	N-acetylgalactosamine 4-O-sulfotransferase activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(5)	27	Esophageal squamous(110;0.162)					ACCCTACGGAGCTCGCCCCCC	0.637													T	34180275	G	T	34180275	3	4	505	1	0	0	0	0	1	0	0	0	3440	962	34	4	110	4	CHST8	19	34180275	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	29629400	34180275	24948708	42	45988											
CIC	23152	broad.mit.edu	37	chr19	42791799	42791799	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccaaccaggacaaccggAccgtcagcaagatcctgggc	12	4	10	15	2	1	1	1	0	0	1	3	3	3	3	5	3	3	1	5	3	3	0			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:42791799A>C	ENST00000572681.2	+	6	3480	c.3412A>C	c.(3412-3414)Acc>Ccc	p.T1138P	CIC_ENST00000160740.3_Missense_Mutation_p.T229P|CIC_ENST00000575354.2_Missense_Mutation_p.T229P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	229	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACAACCGGACCGTCAGCAA	0.617			"Mis, F, S"		oligodendroglioma								C	42791799	A	C	42791799	3	2	505	1	0	0	0	0	1	0	0	0	3454	275	10	5	703	5	CIC	19	42791799	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	8611524	42791799	16337184	43	45989											
XRCC1	7515	broad.mit.edu	37	chr19	44079106	44079106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctgccttggctgcccGccattttcggtaagtgtctg	3	13	11	14	3	1	0	0	0	1	0	3	0	1	0	4	2	2	2	4	2	1	4			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr19:44079106G>A	ENST00000262887.5	-	2	647	c.100C>T	c.(100-102)Cgg>Tgg	p.R34W	XRCC1_ENST00000543982.1_Intron|L34079.4_ENST00000600242.1_RNA|L34079.2_ENST00000594374.1_Intron			P18887	XRCC1_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 1	34					base-excision repair|single strand break repair	nucleoplasm	damaged DNA binding|protein binding			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Prostate(69;0.0153)				TTGGCTGCCCGCCATTTTCGG	0.552								Other BER factors					A	44079106	G	A	44079106	3	1	505	1	0	0	0	0	1	0	0	0	17554	1086	38	1	1865	1	XRCC1	19	44079106	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	1287307	44079106	15049877	44	45990											
ADNP	23394	broad.mit.edu	37	chr20	49509063	49509063	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actatcatcatctaactttcGttttttcagtaagggaaatt	12	17	5	7	1	4	0	3	0	1	0	5	1	4	1	0	1	1	2	0	1	4	8			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr20:49509063G>A	ENST00000396029.3	-	5	2755	c.2188C>T	c.(2188-2190)Cga>Tga	p.R730*	ADNP_ENST00000371602.4_Nonsense_Mutation_p.R730*|ADNP_ENST00000396032.3_Nonsense_Mutation_p.R730*|ADNP_ENST00000349014.3_Nonsense_Mutation_p.R730*	NM_001282531.1|NM_015339.2	NP_001269460.1|NP_056154.1	Q9H2P0	ADNP_HUMAN	activity-dependent neuroprotector homeobox	730						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(7)|kidney(1)|large_intestine(13)|lung(7)|ovary(2)|prostate(2)|skin(2)	39						TCTAACTTTCGTTTTTTCAGT	0.443													A	49509063	G	A	49509063	4	1	505	1	0	0	0	0	0	1	0	0	323	1153	40	1	1124	1	ADNP	20	49509063	Nonsense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		49509063	13516457	45	45991											
KRTAP19-8	728299	broad.mit.edu	37	chr21	32410673	32410673	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcccaacctgcggaagctGccatagccgcagccatagcc	10	5	10	16	2	0	0	0	0	0	0	0	1	0	1	6	1	8	2	6	1	5	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:32410673G>A	ENST00000382822.2	-	1	122	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_001099219.1	NP_001092689.1	Q3LI54	KR198_HUMAN	keratin associated protein 19-8	30						intermediate filament				endometrium(2)|upper_aerodigestive_tract(1)	3						TGCGGAAGCTGCCATAGCCGC	0.537													A	32410673	G	A	32410673	2	1	505	1	0	0	0	0	0	0	0	1	8593	1306	46	2		2	KRTAP19-8	21	32410673	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		32410673	15719222	46	45992											
BRWD1	54014	broad.mit.edu	37	chr21	40570895	40570895	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgagtcactcagaatcttgGtttttttaaagaaactcgca	12	14	7	8	1	3	3	2	1	1	2	4	3	3	3	0	1	1	2	0	1	4	5			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:40570895G>T	ENST00000342449.3	-	40	5525	c.5447C>A	c.(5446-5448)aCc>aAc	p.T1816N	BRWD1_ENST00000380800.3_Missense_Mutation_p.T1816N|BRWD1_ENST00000333229.2_Missense_Mutation_p.T1816N	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1816					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		p.T1816N(2)		cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				CAGAATCTTGGTTTTTTTAAA	0.388													T	40570895	G	T	40570895	3	4	505	1	0	0	0	0	1	0	0	0	1534	1261	44	4	1766	4	BRWD1	21	40570895	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	8160222	40570895	7559000	47	45993											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46020910	46020910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaagcctgtgtactGtgtgcctgtctgcagtgggg	4	12	15	10	0	1	0	0	0	1	0	1	0	1	0	2	2	6	4	2	2	2	1			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr21:46020910G>C	ENST00000380102.2	+	1	414	c.389G>C	c.(388-390)tGt>tCt	p.C130S	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	130	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CCTGTGTACTGTGTGCCTGTC	0.632													C	46020910	G	C	46020910	3	2	505	1	0	0	0	0	1	0	0	0	8572	1377	48	4	380	4	KRTAP10-7	21	46020910	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	5450015	46020910	2108985	48	45994											
EFCAB6	64800	broad.mit.edu	37	chr22	44079702	44079702	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaataactttgtgatgatGttttccttgtgagattcatt	10	19	7	5	0	1	3	1	3	0	1	2	4	2	3	1	0	1	1	1	0	3	8			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chr22:44079702G>A	ENST00000262726.7	-	12	1429	c.1176C>T	c.(1174-1176)aaC>aaT	p.N392N	EFCAB6_ENST00000396231.2_Silent_p.N240N|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TTGTGATGATGTTTTCCTTGT	0.348													A	44079702	G	A	44079702	2	1	505	1	0	0	0	0	0	0	0	1	4978	1368	48	2		2	EFCAB6	22	44079702	Silent	SNP	G	TCGA-FG-A710-01A-12D-A33T-08		44079702	7224864	49	45995											
SH3KBP1	30011	broad.mit.edu	37	chrX	19713790	19713790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccgactcccctgacagctCcttgatgaagttggaaggaa	11	9	10	11	1	0	3	0	3	0	0	3	6	3	5	4	2	1	2	4	2	3	2			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:19713790C>T	ENST00000397821.3	-	5	750	c.460G>A	c.(460-462)Gag>Aag	p.E154K	SH3KBP1_ENST00000379698.4_Missense_Mutation_p.E117K|SH3KBP1_ENST00000379697.3_Missense_Mutation_p.E154K	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	154	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCTGACAGCTCCTTGATGAAG	0.512													T	19713790	C	T	19713790	3	4	505	1	0	0	0	0	1	0	0	0	14349	864	30	2	1609	2	SH3KBP1	23	19713790	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08		19713790	135556770	50	45996											
WNK3	65267	broad.mit.edu	37	chrX	54259292	54259292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaggactgggggcggcttCgaagtttgcttttgaaagat	9	12	14	6	2	1	2	1	1	0	1	2	4	1	3	0	4	1	3	0	4	3	4			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:54259292C>T	ENST00000354646.2	-	21	5228	c.4790G>A	c.(4789-4791)cGa>cAa	p.R1597Q	WNK3_ENST00000375169.3_Missense_Mutation_p.R1550Q|WNK3_ENST00000375159.2_Missense_Mutation_p.R1597Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1550					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						GGGGCGGCTTCGAAGTTTGCT	0.418													T	54259292	C	T	54259292	3	4	505	1	0	0	0	0	1	0	0	0	17481	884	31	1	628	1	WNK3	23	54259292	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	34545502	54259292	101011268	51	45997											
NAP1L2	4674	broad.mit.edu	37	chrX	72433964	72433964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttggattctaaattggccGctctagtttgaagcttttta	9	18	8	6	1	2	1	0	1	2	0	2	2	2	2	1	2	1	3	1	2	5	9			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:72433964G>A	ENST00000373517.3	-	1	720	c.365C>T	c.(364-366)gCg>gTg	p.A122V	NAP1L2_ENST00000536638.1_5'UTR	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	122					nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					TAAATTGGCCGCTCTAGTTTG	0.373													A	72433964	G	A	72433964	3	1	505	1	0	0	0	0	1	0	0	0	10233	1087	38	1	1021	1	NAP1L2	23	72433964	Missense_Mutation	SNP	G	TCGA-FG-A710-01A-12D-A33T-08	18174672	72433964	82836596	52	45998											
ABCB7	22	broad.mit.edu	37	chrX	74290346	74290346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccattactagatctccaaCagtaagggtaccttaaaagg	15	9	7	10	0	1	1	0	0	1	1	2	1	1	1	3	2	3	2	3	2	7	5			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:74290346C>A	ENST00000253577.3	-	10	1246	c.1222G>T	c.(1222-1224)Gtt>Ttt	p.V408F	ABCB7_ENST00000339447.4_Missense_Mutation_p.V367F|ABCB7_ENST00000373394.3_Missense_Mutation_p.V407F|ABCB7_ENST00000534570.1_5'UTR	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	407	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						AGATCTCCAACAGTAAGGGTA	0.358													A	74290346	C	A	74290346	3	1	505	1	0	0	0	0	1	0	0	0	46	478	17	4	1067	4	ABCB7	23	74290346	Missense_Mutation	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	1856382	74290346	80980214	53	45999											
SAGE1	55511	broad.mit.edu	37	chrX	134988634	134988634	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccaaccagcacctgataaCgtgttgttgactcttcgacc	9	11	8	13	2	1	2	0	2	1	0	3	3	2	2	4	0	3	3	4	0	2	4			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:134988634C>T	ENST00000535938.1	+	7	827	c.660C>T	c.(658-660)aaC>aaT	p.N220N	SAGE1_ENST00000370709.3_Silent_p.N220N|SAGE1_ENST00000324447.3_Silent_p.N220N|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	220										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CACCTGATAACGTGTTGTTGA	0.423													T	134988634	C	T	134988634	2	4	505	1	0	0	0	0	0	0	0	1	13900	535	19	1		1	SAGE1	23	134988634	Silent	SNP	C	TCGA-FG-A710-01A-12D-A33T-08	60698288	134988634	20281926	54	46000											
MTMR1	8776	broad.mit.edu	37	chrX	149924318	149924318	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattattatgtacgatggaAtccacggatgagacctcagg	14	10	10	7	2	1	1	1	1	0	1	2	5	2	3	2	3	1	1	2	3	5	3			TCGA-FG-A710-01A-12D-A33T-08	TCGA-FG-A710-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36b2ecb8-3547-46b2-a4d0-a1cf130f0d37	a20f4f56-79d0-4def-a3da-6fac1bd9a844	g.chrX:149924318A>G	ENST00000445323.2	+	15	1959	c.1838A>G	c.(1837-1839)aAt>aGt	p.N613S	MTMR1_ENST00000544228.1_Missense_Mutation_p.N605S|MTMR1_ENST00000370390.3_Missense_Mutation_p.N605S|MTMR1_ENST00000541925.1_Missense_Mutation_p.N511S|MTMR1_ENST00000538506.1_3'UTR			Q13613	MTMR1_HUMAN	myotubularin related protein 1	605						plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GTACGATGGAATCCACGGATG	0.343													G	149924318	A	G	149924318	3	3	505	1	0	0	0	0	1	0	0	0	10014	101	4	3	1868	3	MTMR1	23	149924318	Missense_Mutation	SNP	A	TCGA-FG-A710-01A-12D-A33T-08	14935684	149924318	5346242	55	46001											
CLCNKB	1188	broad.mit.edu	37	chr1	16375046	16375046	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcagcggcggcagtgggCgtggccacagtctttgcagc	5	7	18	11	3	1	0	0	0	1	0	1	0	1	0	1	5	3	3	1	5	0	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:16375046C>T	ENST00000375679.4	+	7	735	c.624C>T	c.(622-624)ggC>ggT	p.G208G		NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		CGGCAGTGGGCGTGGCCACAG	0.657													T	16375046	C	T	16375046	2	4	506	1	0	0	0	0	0	0	0	1	3501	755	27	1		1	CLCNKB	1	16375046	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		16375046	232875575	1	46002											
AMPD1	270	broad.mit.edu	37	chr1	115231189	115231189	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacaccacttacctcctggCttctgtggaggtggacagag	8	11	11	11	0	1	1	0	0	1	1	2	3	2	3	3	4	2	1	3	4	2	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:115231189C>A	ENST00000369538.3	-	2	342	c.295G>T	c.(295-297)Gcc>Tcc	p.A99S	AMPD1_ENST00000520113.2_Missense_Mutation_p.A103S|AMPD1_ENST00000353928.6_Missense_Mutation_p.A70S	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	70					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	TACCTCCTGGCTTCTGTGGAG	0.468													A	115231189	C	A	115231189	3	1	506	1	0	0	0	0	1	0	0	0	585	797	28	4	2091	4	AMPD1	1	115231189	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	98856143	115231189	134019432	2	46003											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													T	153907309	C	T	153907309	2	4	506	1	0	0	0	0	0	0	0	1	4473	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	38676120	153907309	95343312	3	46004											
OR2T5	401993	broad.mit.edu	37	chr1	248651994	248651994	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctacttagtgtggtcatCtttgtggttttcctgaaggc	5	17	11	8	0	3	1	1	1	2	0	4	1	4	1	1	3	1	2	1	3	3	5			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr1:248651994C>A	ENST00000366473.2	+	1	110	c.105C>A	c.(103-105)atC>atA	p.I35I		NM_001004697.1	NP_001004697.1	Q6IEZ7	OR2T5_HUMAN	olfactory receptor, family 2, subfamily T, member 5	35					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|ovary(2)|pancreas(1)|skin(2)	9	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GTGTGGTCATCTTTGTGGTTT	0.488													A	248651994	C	A	248651994	2	1	506	1	0	0	0	0	0	0	0	1	11104	903	32	4		4	OR2T5	1	248651994	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	94744685	248651994	598627	4	46005											
ODC1	4953	broad.mit.edu	37	chr2	10582221	10582221	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatgcaacatagtatCtgccgggctcagctatgatt	11	11	10	9	1	2	2	1	2	1	0	2	2	2	2	1	1	5	5	1	1	5	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:10582221C>A	ENST00000234111.4	-	9	1340	c.830G>T	c.(829-831)aGa>aTa	p.R277I	ODC1_ENST00000405333.1_Missense_Mutation_p.R277I	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	277					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	AACATAGTATCTGCCGGGCTC	0.433													A	10582221	C	A	10582221	3	1	506	1	0	0	0	0	1	0	0	0	10901	913	32	4	571	4	ODC1	2	10582221	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		10582221	232617152	5	46006											
GALNT14	79623	broad.mit.edu	37	chr2	31167747	31167747	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgggctccgtggggtccagGcgccgagccttctgctctgg	3	9	16	13	3	2	0	0	0	2	0	4	1	4	0	4	5	2	2	4	5	0	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:31167747G>A	ENST00000349752.5	-	8	1443	c.804C>T	c.(802-804)cgC>cgT	p.R268R	GALNT14_ENST00000486564.1_5'UTR|GALNT14_ENST00000324589.5_Silent_p.R273R|GALNT14_ENST00000420311.2_Silent_p.R233R|GALNT14_ENST00000406653.1_Silent_p.R248R|GALNT14_ENST00000356174.3_Silent_p.R235R	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	268						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					TGGGGTCCAGGCGCCGAGCCT	0.587													A	31167747	G	A	31167747	2	1	506	1	0	0	0	0	0	0	0	1	6266	1190	42	2		2	GALNT14	2	31167747	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	20585526	31167747	212031626	6	46007											
SLC9A4	389015	broad.mit.edu	37	chr2	103120021	103120021	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtggggcttggaggggtaTtgtttggcatcgtttttgga	4	17	17	3	1	0	0	0	0	0	0	1	2	0	2	0	7	0	5	0	7	1	7			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:103120021T>C	ENST00000295269.4	+	3	1292	c.835T>C	c.(835-837)Ttg>Ctg	p.L279L		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	279					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						TGGAGGGGTATTGTTTGGCAT	0.398													C	103120021	T	C	103120021	2	2	506	1	0	0	0	0	0	0	0	1	14810	1490	52	3		3	SLC9A4	2	103120021	Silent	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	71952274	103120021	140079352	7	46008											
DYNC1I2	1781	broad.mit.edu	37	chr2	172585349	172585349	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggttctgtgtacacagcatgCcgccatggcaggtaaaccta	10	9	11	11	1	1	0	0	0	1	0	1	0	1	0	3	3	4	5	3	3	4	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:172585349C>T	ENST00000534253.2	+	14	1548	c.1380C>T	c.(1378-1380)tgC>tgT	p.C460C	DYNC1I2_ENST00000409773.1_Silent_p.C460C|DYNC1I2_ENST00000397119.3_Silent_p.C460C|DYNC1I2_ENST00000508530.1_Silent_p.C434C|DYNC1I2_ENST00000409197.1_Silent_p.C434C|DYNC1I2_ENST00000410079.3_Silent_p.C452C|DYNC1I2_ENST00000409453.1_Silent_p.C460C|DYNC1I2_ENST00000358002.6_Silent_p.C452C|DYNC1I2_ENST00000340296.4_Silent_p.C434C|DYNC1I2_ENST00000263811.4_Silent_p.C454C|DYNC1I2_ENST00000409317.1_Silent_p.C454C			Q13409	DC1I2_HUMAN	dynein, cytoplasmic 1, intermediate chain 2	460					G2/M transition of mitotic cell cycle|interspecies interaction between organisms|microtubule-based movement|transport	centrosome|cytosol|dynein complex|microtubule|vesicle	microtubule motor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|ovary(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.198)			ACACAGCATGCCGCCATGGCA	0.388													T	172585349	C	T	172585349	2	4	506	1	0	0	0	0	0	0	0	1	4882	747	26	2		2	DYNC1I2	2	172585349	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	69465328	172585349	70614024	8	46009											
SGOL2	151246	broad.mit.edu	37	chr2	201438253	201438253	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcccttttgtggaagaaAtaaaagaaggagagtgtcag	15	10	11	5	0	2	3	1	0	1	3	3	5	2	4	1	2	0	0	1	2	5	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:201438253A>G	ENST00000357799.4	+	7	3282	c.3184A>G	c.(3184-3186)Ata>Gta	p.I1062V		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	1062					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TGTGGAAGAAATAAAAGAAGG	0.378													G	201438253	A	G	201438253	3	3	506	1	0	0	0	0	1	0	0	0	14310	101	4	3	3206	3	SGOL2	2	201438253	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	28852904	201438253	41761120	9	46010											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	506	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	7674859	209113112	34086261	10	46011											
ATG4B	23192	broad.mit.edu	37	chr2	242594686	242594686	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgtatctgttccctgcagCgcaaatgggagttggcgaag	8	11	14	8	2	1	0	0	0	1	0	2	2	2	1	1	2	2	5	1	2	3	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr2:242594686C>A	ENST00000405546.3	+	6	888	c.386C>A	c.(385-387)gCg>gAg	p.A129E	ATG4B_ENST00000402096.1_Splice_Site_p.A55E|ATG4B_ENST00000404914.3_Splice_Site_p.A129E|ATG4B_ENST00000396411.3_Splice_Site_p.A55E|ATG4B_ENST00000474739.2_Splice_Site_p.A115E			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	129					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TTCCCTGCAGCGCAAATGGGA	0.597													A	242594686	C	A	242594686	5	1	506	1	0	0	0	0	0	0	1	0	1102	782	27	4	408	4	ATG4B	2	242594686	Splice_Site	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	33481574	242594686	604687	11	46012											
CDCP1	64866	broad.mit.edu	37	chr3	45134906	45134906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tagagcctcccgggcagaagGagccgaagtacaggtcctgg	10	5	15	11	2	0	2	0	0	0	2	2	4	2	3	4	4	3	2	4	4	4	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:45134906G>A	ENST00000296129.1	-	6	1624	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	497	CUB.					extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CGGGCAGAAGGAGCCGAAGTA	0.597													A	45134906	G	A	45134906	3	1	506	1	0	0	0	0	1	0	0	0	3123	1174	41	2	1036	2	CDCP1	3	45134906	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		45134906	152887524	12	46013											
KALRN	8997	broad.mit.edu	37	chr3	123987699	123987699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagtggatcgaactgcGgctctccctggaggagttct	7	10	15	9	2	2	1	0	1	2	0	4	6	2	5	1	5	2	2	1	5	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:123987699G>A	ENST00000360013.3	+	5	687	c.560G>A	c.(559-561)cGg>cAg	p.R187Q	KALRN_ENST00000460856.1_Missense_Mutation_p.R187Q|KALRN_ENST00000240874.3_Missense_Mutation_p.R187Q	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	187					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						ATCGAACTGCGGCTCTCCCTG	0.602													A	123987699	G	A	123987699	3	1	506	1	0	0	0	0	1	0	0	0	8033	1116	39	1	578	1	KALRN	3	123987699	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	78852793	123987699	74034731	13	46014											
MUC4	4585	broad.mit.edu	37	chr3	195507717	195507717	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaggggtggtgtcacctgtGgatactgaggaaaggctggt	9	9	18	5	0	1	2	1	1	0	1	1	4	1	4	1	7	1	1	1	7	2	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr3:195507717G>T	ENST00000463781.3	-	2	11193	c.10734C>A	c.(10732-10734)tcC>tcA	p.S3578S	MUC4_ENST00000475231.1_Silent_p.S3578S|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	376					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.S3578S(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		TGTCACCTGTGGATACTGAGG	0.587													T	195507717	G	T	195507717	2	4	506	1	0	0	0	0	0	0	0	1	10054	1335	47	4		4	MUC4	3	195507717	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	71520018	195507717	2514713	14	46015											
PGM2	55276	broad.mit.edu	37	chr4	37857282	37857282	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcacctttgctaatggAggcgtggccaccatgcgcac	8	9	10	14	2	1	0	1	0	0	0	1	1	1	1	4	3	2	2	4	3	1	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:37857282A>G	ENST00000381967.4	+	13	1756	c.1656A>G	c.(1654-1656)ggA>ggG	p.G552G	PGM2_ENST00000537241.1_Silent_p.G392G	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	552					glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						TTGCTAATGGAGGCGTGGCCA	0.468													G	37857282	A	G	37857282	2	3	506	1	0	0	0	0	0	0	0	1	11875	291	11	3		3	PGM2	4	37857282	Silent	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		37857282	153296994	15	46016											
MTTP	4547	broad.mit.edu	37	chr4	100540154	100540154	+	Frame_Shift_Del	DEL	A	A	-																															cttcagttacaatctggactAaaagccaatatagaggtcca																										TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:100540154delA	ENST00000457717.1	+	17	2497	c.2241delA	c.(2239-2241)ctafs	p.L747fs	MTTP_ENST00000265517.5_Frame_Shift_Del_p.L747fs|MTTP_ENST00000511045.1_Frame_Shift_Del_p.L774fs|RP11-766F14.1_ENST00000508578.1_RNA	NM_000253.2	NP_000244.2	P55157	MTP_HUMAN	microsomal triglyceride transfer protein	747					lipid metabolic process|lipoprotein metabolic process	endoplasmic reticulum lumen	lipid binding|lipid transporter activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(14)|lung(19)|ovary(4)|prostate(5)|skin(1)|urinary_tract(1)	57				OV - Ovarian serous cystadenocarcinoma(123;6.04e-09)	Hesperetin(DB01094)	AATCTGGACTAAAAGCCAATA	0.348													-	100540154	A	-	100540154	7	5	506	1	0	1	0	1	0	0	0	0	10040	349	13	0	2303	0	MTTP	4	100540154	Frame_Shift_Del	DEL	A	TCGA-FG-A711-01A-21D-A33T-08	62682872	100540154	90614122	16	46017											
TACR3	6870	broad.mit.edu	37	chr4	104640397	104640397	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccactcgctatgaagcgCgtagatgaaattgaccaacg	13	8	10	10	4	0	4	0	3	0	1	1	4	0	4	2	0	3	3	2	0	6	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr4:104640397C>G	ENST00000304883.2	-	1	576	c.436G>C	c.(436-438)Gcg>Ccg	p.A146P		NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	146						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		CTATGAAGCGCGTAGATGAAA	0.532													G	104640397	C	G	104640397	3	3	506	1	0	0	0	0	1	0	0	0	15604	768	27	4	981	4	TACR3	4	104640397	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	4100243	104640397	86513879	17	46018											
PTCD2	79810	broad.mit.edu	37	chr5	71638862	71638862	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagcctgcattaatttaaAtgtaagtgatttctttatgg	12	17	7	5	0	1	1	0	1	1	0	1	1	1	1	1	1	2	2	1	1	6	8			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:71638862A>G	ENST00000380639.5	+	8	843	c.827A>G	c.(826-828)aAt>aGt	p.N276S	PTCD2_ENST00000460837.2_3'UTR|PTCD2_ENST00000503868.1_Splice_Site_p.N167S|PTCD2_ENST00000536805.1_Splice_Site_p.N104S|PTCD2_ENST00000543322.1_3'UTR	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	276										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		ATTAATTTAAATGTAAGTGAT	0.269													G	71638862	A	G	71638862	5	3	506	1	0	0	0	0	0	0	1	0	12813	115	4	3	857	3	PTCD2	5	71638862	Splice_Site	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		71638862	109276398	18	46019											
ZFYVE16	9765	broad.mit.edu	37	chr5	79734068	79734068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actttaatattgatgaaggcGcaaaaagtggcccactaatt	15	11	8	7	1	0	2	0	2	0	0	0	2	0	2	1	2	0	1	1	2	6	6			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:79734068G>A	ENST00000338008.5	+	3	1744	c.1564G>A	c.(1564-1566)Gca>Aca	p.A522T	ZFYVE16_ENST00000505560.1_Missense_Mutation_p.A522T|ZFYVE16_ENST00000510158.1_Missense_Mutation_p.A522T	NM_001284236.1|NM_014733.3	NP_001271165.1|NP_055548	Q7Z3T8	ZFY16_HUMAN	zinc finger, FYVE domain containing 16	522					BMP signaling pathway|endosome transport|protein targeting to lysosome|regulation of endocytosis|vesicle organization	early endosome membrane	1-phosphatidylinositol binding|metal ion binding|phosphatidylinositol-3,4,5-trisphosphate binding|protein binding|protein transporter activity	p.A522T(1)		breast(4)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(14)|liver(1)|lung(6)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Lung NSC(167;0.00428)|all_lung(232;0.00455)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;1.6e-46)|Epithelial(54;2.02e-41)|all cancers(79;5.05e-36)		TGATGAAGGCGCAAAAAGTGG	0.353													A	79734068	G	A	79734068	3	1	506	1	0	0	0	0	1	0	0	0	17765	1087	38	1	1570	1	ZFYVE16	5	79734068	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	8095206	79734068	101181192	19	46020											
CHD1	1105	broad.mit.edu	37	chr5	98232063	98232063	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtccatataattgatgtTcatgaaacaaataattcaga	18	12	6	5	0	2	3	2	2	0	1	3	3	3	3	1	1	1	1	1	1	6	6			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:98232063T>A	ENST00000284049.3	-	11	1726	c.1577A>T	c.(1576-1578)gAa>gTa	p.E526V		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	526	Helicase ATP-binding.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|methylated histone residue binding			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TAATTGATGTTCATGAAACAA	0.368													A	98232063	T	A	98232063	3	1	506	1	0	0	0	0	1	0	0	0	3353	1783	62	5	3655	5	CHD1	5	98232063	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	18497995	98232063	82683197	20	46021											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725473	140725473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggtgggtctgcacacgggcGaggtgcgcacggcgcgagcc	5	4	19	13	7	1	0	0	0	1	0	1	2	1	0	1	5	3	2	1	5	0	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr5:140725473G>A	ENST00000253812.6	+	1	1873	c.1873G>A	c.(1873-1875)Gag>Aag	p.E625K	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACACGGGCGAGGTGCGCAC	0.701													A	140725473	G	A	140725473	3	1	506	1	0	0	0	0	1	0	0	0	11631	1059	37	1	1875	1	PCDHGA3	5	140725473	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	42493410	140725473	40189787	21	46022											
KIAA0319	9856	broad.mit.edu	37	chr6	24582557	24582557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggcttattaaattccattCatagttgtaggttgtttctg	8	19	9	5	0	2	0	1	0	1	0	3	0	3	0	1	2	0	5	1	2	5	9			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:24582557C>T	ENST00000535378.1	-	7	1726	c.1084G>A	c.(1084-1086)Gaa>Aaa	p.E362K	KIAA0319_ENST00000378214.3_Missense_Mutation_p.E371K|KIAA0319_ENST00000430948.2_Missense_Mutation_p.E326K|KIAA0319_ENST00000537886.1_Missense_Mutation_p.E371K|KIAA0319_ENST00000543707.1_Missense_Mutation_p.E371K	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	371	PKD 1.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AAATTCCATTCATAGTTGTAG	0.388													T	24582557	C	T	24582557	3	4	506	1	0	0	0	0	1	0	0	0	8226	835	29	2	2171	2	KIAA0319	6	24582557	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		24582557	146532510	22	46023											
GSTA2	2939	broad.mit.edu	37	chr6	52616504	52616504	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgtccgtggctctttaaGacctggagaatgggaggaat	9	12	13	7	1	2	2	0	0	2	2	3	5	3	4	2	4	0	1	2	4	3	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:52616504G>T	ENST00000493422.1	-	6	572	c.417C>A	c.(415-417)gtC>gtA	p.V139V		NM_000846.4	NP_000837.3	P09210	GSTA2_HUMAN	glutathione S-transferase alpha 2	139	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(77;0.118)				Aminophenazone(DB01424)|Amsacrine(DB00276)|Busulfan(DB01008)|Chlorambucil(DB00291)|Chloroquine(DB00608)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Ethacrynic acid(DB00903)|Glutathione(DB00143)|Mechlorethamine(DB00888)|Praziquantel(DB01058)|Vitamin E(DB00163)	GGCTCTTTAAGACCTGGAGAA	0.542													T	52616504	G	T	52616504	2	4	506	1	0	0	0	0	0	0	0	1	6886	929	33	4		4	GSTA2	6	52616504	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	28033947	52616504	118498563	23	46024											
NT5DC1	221294	broad.mit.edu	37	chr6	116544280	116544280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttaccaagtcagagacCtttccggacactcggtaagt	11	9	8	13	2	1	1	1	0	0	1	3	3	2	2	4	2	1	1	4	2	3	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:116544280C>T	ENST00000319550.4	+	8	870	c.788C>T	c.(787-789)cCt>cTt	p.P263L		NM_152729.2	NP_689942.2	Q5TFE4	NT5D1_HUMAN	5'-nucleotidase domain containing 1	263							hydrolase activity|metal ion binding			large_intestine(2)|lung(2)|prostate(2)|skin(1)|stomach(1)	8		all_cancers(87;0.00367)|all_epithelial(87;0.00449)|Colorectal(196;0.0469)		all cancers(137;0.0327)|OV - Ovarian serous cystadenocarcinoma(136;0.0445)|GBM - Glioblastoma multiforme(226;0.0719)|Epithelial(106;0.112)		AGTCAGAGACCTTTCCGGACA	0.398													T	116544280	C	T	116544280	3	4	506	1	0	0	0	0	1	0	0	0	10766	681	24	2	818	2	NT5DC1	6	116544280	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	63927776	116544280	54570787	24	46025											
CCR6	1235	broad.mit.edu	37	chr6	167550306	167550306	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacacccaaggcagcgatgtCtgtgaacccaagtaccagac	14	5	9	13	1	1	2	0	1	1	1	1	3	1	2	3	1	4	2	3	1	5	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr6:167550306C>T	ENST00000341935.5	+	3	1140	c.588C>T	c.(586-588)gtC>gtT	p.V196V	CCR6_ENST00000349984.4_Silent_p.V196V|RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Silent_p.V196V	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	196					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		GCAGCGATGTCTGTGAACCCA	0.483													T	167550306	C	T	167550306	2	4	506	1	0	0	0	0	0	0	0	1	2975	900	32	2		2	CCR6	6	167550306	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	51006026	167550306	3564761	25	46026											
SLC18A1	6570	broad.mit.edu	37	chr8	20038418	20038418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaccagcaccagctgccGggacgctctcccctccttca	7	6	7	21	2	2	0	1	0	1	0	4	1	3	1	7	1	3	3	7	1	0	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20038418G>A	ENST00000440926.1	-	3	528	c.58C>T	c.(58-60)Cgg>Tgg	p.R20W	SLC18A1_ENST00000437980.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000265808.7_Missense_Mutation_p.R20W|SLC18A1_ENST00000276373.5_Missense_Mutation_p.R20W|SLC18A1_ENST00000519026.1_Missense_Mutation_p.R20W|SLC18A1_ENST00000381608.4_Missense_Mutation_p.R20W	NM_001135691.2	NP_001129163.1	P54219	VMAT1_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 1	20					neurotransmitter transport	clathrin sculpted monoamine transport vesicle membrane|integral to membrane|membrane fraction	drug transmembrane transporter activity|monoamine transmembrane transporter activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29				Colorectal(74;0.0747)		ACCAGCTGCCGGGACGCTCTC	0.587													A	20038418	G	A	20038418	3	1	506	1	0	0	0	0	1	0	0	0	14519	1115	39	1	1579	1	SLC18A1	8	20038418	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		20038418	126325604	26	46027											
LZTS1	11178	broad.mit.edu	37	chr8	20112535	20112535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccattttggagctggacttgCcgtgaccggagtcctgggag	6	10	15	10	2	0	1	0	1	0	0	1	5	1	5	4	4	2	1	4	4	0	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:20112535C>T	ENST00000381569.1	-	2	515	c.158G>A	c.(157-159)gGc>gAc	p.G53D	LZTS1_ENST00000265801.6_Missense_Mutation_p.G53D|LZTS1_ENST00000522290.1_Missense_Mutation_p.G53D			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	53					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		GCTGGACTTGCCGTGACCGGA	0.577													T	20112535	C	T	20112535	3	4	506	1	0	0	0	0	1	0	0	0	9209	739	26	2	1644	2	LZTS1	8	20112535	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	74117	20112535	126251487	27	46028											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37732635	37732635	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggggatggggaggaggaCgggctgctatccttgatctc	6	10	18	7	1	1	1	0	1	1	0	3	5	2	5	1	7	1	2	1	7	1	3	rs142192886	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:37732635C>T	ENST00000330843.4	-	3	1032	c.1020G>A	c.(1018-1020)ccG>ccA	p.P340P	RAB11FIP1_ENST00000524118.1_Silent_p.P192P|RAB11FIP1_ENST00000522727.1_Silent_p.P192P|RAB11FIP1_ENST00000287263.4_Silent_p.P340P	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	340					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GGGAGGAGGACGGGCTGCTAT	0.532													T	37732635	C	T	37732635	2	4	506	1	0	0	0	0	0	0	0	1	12981	523	19	1		1	RAB11FIP1	8	37732635	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	17620100	37732635	108631387	28	46029											
RP1	6101	broad.mit.edu	37	chr8	55537675	55537675	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaggagataaacattcaAatgacagatcaagtggctga	17	7	11	6	0	2	5	2	2	0	3	2	6	2	5	0	2	1	2	0	2	4	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:55537675A>G	ENST00000220676.1	+	4	1381	c.1233A>G	c.(1231-1233)caA>caG	p.Q411Q		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	411					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TAAACATTCAAATGACAGATC	0.453													G	55537675	A	G	55537675	2	3	506	1	0	0	0	0	0	0	0	1	13623	11	1	3		3	RP1	8	55537675	Silent	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	17805040	55537675	90826347	29	46030											
COL14A1	7373	broad.mit.edu	37	chr8	121354641	121354641	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgcagtctcaagccaTggtgagatcagtggcgcgtc	8	9	13	11	2	2	2	2	2	1	1	4	3	2	2	2	2	2	1	2	2	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr8:121354641T>A	ENST00000297848.3	+	44	5114	c.4844T>A	c.(4843-4845)aTg>aAg	p.M1615K	COL14A1_ENST00000309791.4_Missense_Mutation_p.M1615K|COL14A1_ENST00000247781.3_Missense_Mutation_p.M1520K	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	1615					cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			TCTCAAGCCATGGTGAGATCA	0.488													A	121354641	T	A	121354641	3	1	506	1	0	0	0	0	1	0	0	0	3702	1464	51	5	5014	5	COL14A1	8	121354641	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	65816966	121354641	25009381	30	46031											
INSL4	3641	broad.mit.edu	37	chr9	5231539	5231539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatggccagcctgttcCggtcctatctgccagcaatc	7	9	10	15	1	1	0	0	0	1	0	4	1	3	1	6	3	3	2	6	3	2	2	rs142741438	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:5231539C>T	ENST00000239316.4	+	1	121	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W		NM_002195.1	NP_002186.1	Q14641	INSL4_HUMAN	insulin-like 4 (placenta)	6					cell proliferation|cell-cell signaling|female pregnancy|multicellular organismal development|signal transduction	extracellular space|soluble fraction	hormone activity|insulin-like growth factor receptor binding			endometrium(2)|lung(2)|skin(1)|urinary_tract(1)	6	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.14)		CAGCCTGTTCCGGTCCTATCT	0.542													T	5231539	C	T	5231539	3	4	506	1	0	0	0	0	1	0	0	0	7826	643	23	1	18	1	INSL4	9	5231539	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		5231539	135981892	31	46032											
C9orf47	286223	broad.mit.edu	37	chr9	91606803	91606803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaggaggccttttccaccGcacccggagcgtttacaacg	8	7	13	13	4	0	0	0	0	0	0	1	3	1	3	4	4	3	2	4	4	2	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:91606803G>A	ENST00000375851.2	+	3	585	c.452G>A	c.(451-453)cGc>cAc	p.R151H	C9orf47_ENST00000334490.5_Missense_Mutation_p.R170H|S1PR3_ENST00000358157.2_Intron|C9orf47_ENST00000375850.3_Missense_Mutation_p.R203H	NM_001001938.3|NM_001142413.1	NP_001001938.1|NP_001135885.1	Q6ZRZ4	CI047_HUMAN	chromosome 9 open reading frame 47	170						extracellular region				endometrium(1)|large_intestine(1)|liver(1)|lung(1)	4						CTTTTCCACCGCACCCGGAGC	0.617													A	91606803	G	A	91606803	3	1	506	1	0	0	0	0	1	0	0	0	2511	1087	38	1	519	1	C9orf47	9	91606803	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	86375264	91606803	49606628	32	46033											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854001	129854001	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgaactgcttgccgttgtgCcatgtaaaggagtcacccgc	8	10	12	11	2	1	1	1	1	0	0	1	2	1	2	3	1	4	3	3	1	3	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:129854001C>T	ENST00000373425.3	-	4	1847	c.1230G>A	c.(1228-1230)tgG>tgA	p.W410*	RALGPS1_ENST00000424082.2_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000373436.1_Intron|ANGPTL2_ENST00000373417.1_Nonsense_Mutation_p.W108*|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	410	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						TGCCGTTGTGCCATGTAAAGG	0.532													T	129854001	C	T	129854001	4	4	506	1	0	0	0	0	0	1	0	0	614	740	26	2	259	2	ANGPTL2	9	129854001	Nonsense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	38247198	129854001	11359430	33	46034											
FAM129B	64855	broad.mit.edu	37	chr9	130270452	130270452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggaagaacctcttccGcacagagctgctgtcgtagt	8	9	10	14	3	1	2	0	0	1	2	4	3	3	3	3	1	3	4	3	1	3	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr9:130270452G>A	ENST00000373312.3	-	12	1675	c.1462C>T	c.(1462-1464)Cgg>Tgg	p.R488W	FAM129B_ENST00000468379.1_Intron|FAM129B_ENST00000373314.3_Missense_Mutation_p.R475W	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	488							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AACCTCTTCCGCACAGAGCTG	0.627													A	130270452	G	A	130270452	3	1	506	1	0	0	0	0	1	0	0	0	5482	1086	38	1	790	1	FAM129B	9	130270452	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	416451	130270452	10942979	34	46035											
ITIH2	3698	broad.mit.edu	37	chr10	7774441	7774441	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaccaactgctagctgaacgGtaagaagagaagagtaccca	17	5	10	9	1	0	4	0	1	0	3	0	5	0	4	2	1	6	4	2	1	8	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:7774441G>A	ENST00000358415.4	+	14	1953		c.e14+1		ITIH2_ENST00000379587.4_Splice_Site	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2						hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TAGCTGAACGGTAAGAAGAGA	0.433													A	7774441	G	A	7774441	5	1	506	1	0	0	0	0	0	0	1	0	7962	1275	44	2	1842	2	ITIH2	10	7774441	Splice_Site	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		7774441	127760306	35	46036											
MTPAP	55149	broad.mit.edu	37	chr10	30653878	30653878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccccacccccacagaggtGctgcaatgccccatcttcat	9	7	6	19	0	2	1	1	0	1	1	2	1	2	1	6	1	3	2	6	1	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:30653878G>A	ENST00000358107.4	-	2	303	c.304C>T	c.(304-306)Cac>Tac	p.H102Y	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						ccacAGAGGTGCTGCAATGCC	0.652													A	30653878	G	A	30653878	3	1	506	1	0	0	0	0	1	0	0	0	10032	1334	46	2		2	MTPAP	10	30653878	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	22879437	30653878	104880869	36	46037											
GRID1	2894	broad.mit.edu	37	chr10	87898634	87898634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatggcgcggcgaagcGtgtcccggtagcgattcagc	7	6	17	11	6	1	0	1	0	0	0	2	3	2	1	1	4	3	2	1	4	2	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr10:87898634G>A	ENST00000327946.7	-	4	753	c.668C>T	c.(667-669)aCg>aTg	p.T223M		NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	223						cell junction|integral to membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106					L-Glutamic Acid(DB00142)	GCGGCGAAGCGTGTCCCGGTA	0.587										Multiple Myeloma(13;0.14)			A	87898634	G	A	87898634	3	1	506	1	0	0	0	0	1	0	0	0	6826	1145	40	1	2413	1	GRID1	10	87898634	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	57244756	87898634	47636113	37	46038											
ANO3	63982	broad.mit.edu	37	chr11	26463524	26463524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttaaaaccgtctcggagaTccctgccttgcctcgcccag	7	9	9	16	4	1	1	0	0	1	1	4	2	2	1	5	1	3	1	5	1	2	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:26463524T>C	ENST00000256737.3	+	2	958	c.106T>C	c.(106-108)Tcc>Ccc	p.S36P	ANO3_ENST00000531646.1_Missense_Mutation_p.S36P|ANO3_ENST00000537978.1_Missense_Mutation_p.S20P|ANO3_ENST00000525139.1_Missense_Mutation_p.S20P	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	36						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						GTCTCGGAGATCCCTGCCTTG	0.438													C	26463524	T	C	26463524	3	2	506	1	0	0	0	0	1	0	0	0	698	1435	50	3	112	3	ANO3	11	26463524	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		26463524	108542992	38	46039											
OR5B12	390191	broad.mit.edu	37	chr11	58207289	58207289	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcataggccattgatgccagGaggaaactttctgcagtgat	11	11	11	8	0	2	2	1	2	1	0	2	4	2	4	2	3	3	1	2	3	2	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:58207289G>C	ENST00000302572.2	-	1	357	c.336C>G	c.(334-336)ctC>ctG	p.L112L		NM_001004733.2	NP_001004733.1	Q96R08	OR5BC_HUMAN	olfactory receptor, family 5, subfamily B, member 12	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(6)|liver(1)|lung(28)|ovary(1)|prostate(3)|skin(1)	40	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				TTGATGCCAGGAGGAAACTTT	0.443													C	58207289	G	C	58207289	2	2	506	1	0	0	0	0	0	0	0	1	11224	1161	41	4		4	OR5B12	11	58207289	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	31743765	58207289	76799227	39	46040											
AHNAK	79026	broad.mit.edu	37	chr11	62289340	62289340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcatttttaagtgccaGtctgggccttgaacgtccac	7	13	11	10	1	1	1	0	1	1	0	2	1	2	1	3	2	2	1	3	2	2	5			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:62289340G>A	ENST00000378024.4	-	5	12823	c.12549C>T	c.(12547-12549)gaC>gaT	p.D4183D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4183					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTAAGTGCCAGTCTGGGCCTT	0.542													A	62289340	G	A	62289340	2	1	506	1	0	0	0	0	0	0	0	1	414	1020	36	2		2	AHNAK	11	62289340	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	4082051	62289340	72717176	40	46041											
NUMA1	4926	broad.mit.edu	37	chr11	71724905	71724905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagcctcttgccggcccCgggccacctgggccttccac	3	8	10	20	2	2	0	1	0	2	0	4	0	3	0	8	3	2	0	8	3	0	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:71724905C>T	ENST00000393695.3	-	15	3975	c.3644G>A	c.(3643-3645)cGg>cAg	p.R1215Q	NUMA1_ENST00000358965.6_Missense_Mutation_p.R1215Q|NUMA1_ENST00000351960.6_Intron	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	1215					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TTGCCGGCCCCGGGCCACCTG	0.612			T	RARA	APL								T	71724905	C	T	71724905	3	4	506	1	0	0	0	0	1	0	0	0	10826	652	23	1	2755	1	NUMA1	11	71724905	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	9435565	71724905	63281611	41	46042											
MAP6	4135	broad.mit.edu	37	chr11	75298555	75298555	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttacaggctcagagaccAtggaaccttgattctttatg	10	14	8	9	0	3	2	1	1	2	1	3	4	3	3	2	2	2	1	2	2	3	6			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:75298555A>G	ENST00000304771.3	-	4	2741	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	CTD-2530H12.4_ENST00000527803.1_RNA|MAP6_ENST00000526740.1_Missense_Mutation_p.M335T	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	664	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					CTCAGAGACCATGGAACCTTG	0.488													G	75298555	A	G	75298555	3	3	506	1	0	0	0	0	1	0	0	0	9339	217	8	3	454	3	MAP6	11	75298555	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	3573650	75298555	59707961	42	46043											
FOLH1B	219595	broad.mit.edu	37	chr11	89395322	89395322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttttttttttcagaataCgcttataggcatggaattgc	11	18	7	5	1	1	1	1	0	0	1	1	2	1	2	0	2	2	2	0	2	6	9			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343													T	89395322	C	T	89395322	1	4	506	0	1	0	0	0	0	0	0	0	6029	551	19	1		1	FOLH1B	11	89395322	RNA	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	14096767	89395322	45611194	43	46044											
CAPRIN2	65981	broad.mit.edu	37	chr12	30906347	30906347	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcaatataggtctcataCgcttgggaaggagatgcagc	11	12	11	7	1	2	1	2	0	1	1	3	3	2	2	0	3	3	2	0	3	5	6	rs151080170	byFrequency	TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr12:30906347C>T	ENST00000251071.5	-	1	1101	c.351G>A	c.(349-351)gcG>gcA	p.A117A	CAPRIN2_ENST00000417045.1_Silent_p.A117A|CAPRIN2_ENST00000395805.2_Silent_p.A117A|CAPRIN2_ENST00000298892.5_Silent_p.A117A|CAPRIN2_ENST00000308433.5_5'UTR	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	117					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGGTCTCATACGCTTGGGAAG	0.468											OREG0021723	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30906347	C	T	30906347	2	4	506	1	0	0	0	0	0	0	0	1	2662	523	19	1		1	CAPRIN2	12	30906347	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		30906347	102945548	44	46045											
SOHLH2	54937	broad.mit.edu	37	chr13	36743177	36743177	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacatgtgcttttaataCgcccaaaactgttgctgcaa	13	12	6	10	1	1	0	1	0	0	0	1	0	1	0	1	0	6	4	1	0	6	4	rs148509448		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:36743177C>T	ENST00000379881.3	-	11	1360	c.1272G>A	c.(1270-1272)gcG>gcA	p.A424A	CCDC169-SOHLH2_ENST00000511166.1_Silent_p.A501A|SOHLH2_ENST00000554962.1_Silent_p.A501A	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GCTTTTAATACGCCCAAAACT	0.383													T	36743177	C	T	36743177	2	4	506	1	0	0	0	0	0	0	0	1	15018	523	19	1		1	SOHLH2	13	36743177	Silent	SNP	C	TCGA-FG-A711-01A-21D-A33T-08		36743177	78426701	45	46046											
TBC1D4	9882	broad.mit.edu	37	chr13	75861079	75861079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttcttgttccagggtcCggattaaagacttcattttg	7	19	8	7	1	2	1	1	0	1	1	4	2	4	2	2	2	0	1	2	2	2	9			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr13:75861079C>T	ENST00000377636.3	-	21	4092	c.3746G>A	c.(3745-3747)cGg>cAg	p.R1249Q	TBC1D4_ENST00000377625.2_Missense_Mutation_p.R1186Q|TBC1D4_ENST00000431480.2_Missense_Mutation_p.R1241Q|TBC1D4_ENST00000425511.1_Missense_Mutation_p.R413Q	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1249						cytoplasm	Rab GTPase activator activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		TTCCAGGGTCCGGATTAAAGA	0.458													T	75861079	C	T	75861079	3	4	506	1	0	0	0	0	1	0	0	0	15722	652	23	1	154	1	TBC1D4	13	75861079	Missense_Mutation	SNP	C	TCGA-FG-A711-01A-21D-A33T-08	39117902	75861079	39308799	46	46047											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-																															agggtttggattttgaggccAaaaaccagcacaccctgtac																										TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													-	68718504	A	-	68718504	7	5	506	1	0	1	0	1	0	0	0	0	3141	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-FG-A711-01A-21D-A33T-08		68718504	21636249	47	46048											
CYBA	1535	broad.mit.edu	37	chr16	88712527	88712527	+	Frame_Shift_Del	DEL	T	T	-																															cagagggcgccactcaccagTaggtagatgccgctcgcaat																										TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr16:88712527delT	ENST00000569359.1	-	5	382	c.366delA	c.(364-366)ctafs	p.L123fs	CYBA_ENST00000261623.3_Frame_Shift_Del_p.L123fs|CYBA_ENST00000567174.1_Frame_Shift_Del_p.L123fs			P13498	CY24A_HUMAN	cytochrome b-245, alpha polypeptide	123					cytochrome complex assembly|electron transport chain|hydrogen peroxide biosynthetic process|inflammatory response|innate immune response|respiratory burst|smooth muscle hypertrophy|superoxide anion generation|transport	NADPH oxidase complex|stored secretory granule	electron carrier activity|heme binding|protein heterodimerization activity|SH3 domain binding			endometrium(1)|liver(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0478)		CACTCACCAGTAGGTAGATGC	0.701													-	88712527	T	-	88712527	7	5	506	1	0	1	0	1	0	0	0	0	4164	1625	57	0	229	0	CYBA	16	88712527	Frame_Shift_Del	DEL	T	TCGA-FG-A711-01A-21D-A33T-08	19994023	88712527	1642226	48	46049											
TRPV1	7442	broad.mit.edu	37	chr17	3470222	3470222	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgagcagactgcctatctcGagcacttgcctctcttaaaa	10	11	7	13	1	2	2	0	1	2	1	4	3	2	2	2	0	4	2	2	0	3	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:3470222G>A	ENST00000174621.6	-	15	2690	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	TRPV1_ENST00000571088.1_Nonsense_Mutation_p.R803*|SHPK_ENST00000572705.1_Nonsense_Mutation_p.R803*|TRPV1_ENST00000576351.1_Nonsense_Mutation_p.R793*|TRPV1_ENST00000399759.3_Nonsense_Mutation_p.R803*|TRPV1_ENST00000399756.4_Nonsense_Mutation_p.R803*|TRPV1_ENST00000310522.5_Nonsense_Mutation_p.R743*|TRPV1_ENST00000425167.2_Nonsense_Mutation_p.R814*			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	803	Interaction with calmodulin (By similarity).				cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	TGCCTATCTCGAGCACTTGCC	0.507													A	3470222	G	A	3470222	4	1	506	1	0	0	0	0	0	1	0	0	16696	1066	37	1	116	1	TRPV1	17	3470222	Nonsense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		3470222	77724988	49	46050											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	506	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	4106899	7577121	73618089	50	46051											
DNAH2	146754	broad.mit.edu	37	chr17	7663221	7663221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgacattctcaccaagcGcaagttacatcgtgaaccca	12	8	6	15	2	1	2	1	2	1	0	3	2	1	2	3	0	3	2	3	0	4	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:7663221G>A	ENST00000572933.1	+	17	4210	c.2750G>A	c.(2749-2751)cGc>cAc	p.R917H	DNAH2_ENST00000389173.2_Missense_Mutation_p.R917H			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	917	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CTCACCAAGCGCAAGTTACAT	0.562													A	7663221	G	A	7663221	3	1	506	1	0	0	0	0	1	0	0	0	4641	1087	38	1	2812	1	DNAH2	17	7663221	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	86100	7663221	73531989	51	46052											
FAM134C	162427	broad.mit.edu	37	chr17	40761319	40761319	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagccgggcctggggtcgtGggaaccccttcggcctcagc	5	6	16	14	3	1	0	1	0	0	0	3	2	1	1	5	5	3	0	5	5	2	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr17:40761319G>A	ENST00000309428.5	-	1	83	c.24C>T	c.(22-24)ccC>ccT	p.P8P	FAM134C_ENST00000585894.1_Intron|FAM134C_ENST00000543197.1_5'UTR	NM_178126.3	NP_835227.1	Q86VR2	F134C_HUMAN	family with sequence similarity 134, member C	8						integral to membrane				endometrium(1)|large_intestine(3)|liver(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	11		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.134)		CTGGGGTCGTGGGAACCCCTT	0.687													A	40761319	G	A	40761319	2	1	506	1	0	0	0	0	0	0	0	1	5492	1335	47	2		2	FAM134C	17	40761319	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	33098098	40761319	40433891	52	46053											
SERPINB5	5268	broad.mit.edu	37	chr18	61160386	61160386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatagatgtgaaaaatgatAgggacagagtggggcataaa	17	9	13	2	0	0	4	0	2	0	2	0	5	0	5	0	3	0	1	0	3	7	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr18:61160386A>G	ENST00000489441.1	+	5	720	c.625A>G	c.(625-627)Agg>Ggg	p.R209G	SERPINB5_ENST00000464346.1_Intron|SERPINB5_ENST00000382771.4_Intron			P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	0					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						GAAAAATGATAGGGACAGAGT	0.453													G	61160386	A	G	61160386	3	3	506	1	0	0	0	0	1	0	0	0	14197	435	15	3		3	SERPINB5	18	61160386	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		61160386	16916862	53	46054											
BCAM	4059	broad.mit.edu	37	chr19	45322335	45322335	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccagagctaaagacagcGgaaatagagcccaaggcaga	16	3	12	10	2	0	4	0	0	0	4	1	5	0	5	2	2	3	2	2	2	5	2	rs79447398		TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:45322335G>A	ENST00000589651.1	+	11	1413	c.1359G>A	c.(1357-1359)gcG>gcA	p.A453A	BCAM_ENST00000270233.6_Silent_p.A453A			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 3.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.A453A(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TAAAGACAGCGGAAATAGAGC	0.582													A	45322335	G	A	45322335	2	1	506	1	0	0	0	0	0	0	0	1	1349	1103	39	1		1	BCAM	19	45322335	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		45322335	13806648	54	46055											
A1BG	1	broad.mit.edu	37	chr19	58864428	58864428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtgagtcaaggtgcacaGgctcctgggccaccccattc	8	7	12	14	0	1	1	1	1	0	0	3	1	2	1	4	4	1	2	4	4	1	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr19:58864428G>A	ENST00000263100.3	-	3	267	c.206C>T	c.(205-207)cCt>cTt	p.P69L	A1BG-AS1_ENST00000594950.1_RNA|A1BG-AS1_ENST00000600379.1_RNA|A1BG-AS1_ENST00000600686.1_RNA|A1BG-AS1_ENST00000599728.1_RNA|A1BG-AS1_ENST00000593374.1_RNA|A1BG-AS1_ENST00000593960.1_RNA|A1BG-AS1_ENST00000595302.1_RNA|CTD-2619J13.8_ENST00000599109.1_RNA	NM_130786.3	NP_570602.2	P04217	A1BG_HUMAN	alpha-1-B glycoprotein	69	Ig-like V-type 1.					extracellular region				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(7)|prostate(2)	15		all_cancers(17;3.04e-16)|all_epithelial(17;7.77e-12)|Lung NSC(17;3.25e-05)|Colorectal(82;5.46e-05)|all_lung(17;0.000129)|all_neural(62;0.0182)|Ovarian(87;0.0443)|Breast(46;0.0889)|Renal(17;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0269)		AAGGTGCACAGGCTCCTGGGC	0.617													A	58864428	G	A	58864428	3	1	506	1	0	0	0	0	1	0	0	0	1	1000	35	2	1305	2	A1BG	19	58864428	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	13542093	58864428	264555	55	46056											
PCSK2	5126	broad.mit.edu	37	chr20	17437095	17437095	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactggctctggaggctaagTatgttcatagctctgggtcc	7	12	12	10	0	3	0	1	0	2	0	4	1	4	1	1	4	1	5	1	4	3	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:17437095T>A	ENST00000262545.2	+	10	1517		c.e10+2		PCSK2_ENST00000536609.1_Splice_Site|PCSK2_ENST00000377899.1_Splice_Site	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2						enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GGAGGCTAAGTATGTTCATAG	0.557													A	17437095	T	A	17437095	5	1	506	1	0	0	0	0	0	0	1	0	11677	1652	57	5	1242	5	PCSK2	20	17437095	Splice_Site	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		17437095	45588425	56	46057											
CEP250	11190	broad.mit.edu	37	chr20	34084410	34084410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctctctttttagcctgActctgtcactgatggaaaag	9	13	7	12	0	3	2	1	2	2	0	4	3	3	3	3	1	1	0	3	1	3	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:34084410A>G	ENST00000397527.1	+	25	3892	c.3172A>G	c.(3172-3174)Act>Gct	p.T1058A	CEP250_ENST00000342580.4_Missense_Mutation_p.T1002A	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	1058	Gln/Glu-rich.				centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			TTTTAGCCTGACTCTGTCACT	0.433													G	34084410	A	G	34084410	3	3	506	1	0	0	0	0	1	0	0	0	3282	275	10	3	3258	3	CEP250	20	34084410	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	16647315	34084410	28941110	57	46058											
CASS4	57091	broad.mit.edu	37	chr20	55027795	55027795	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattcgggaccagatgcaGaccatctccaactcctaccg	12	7	8	14	2	1	3	0	0	1	3	4	4	2	4	5	1	3	1	5	1	3	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr20:55027795G>T	ENST00000371336.3	+	5	1764	c.1563G>T	c.(1561-1563)caG>caT	p.Q521H	CASS4_ENST00000360314.3_Missense_Mutation_p.Q521H|CASS4_ENST00000434344.1_Intron	NM_001164114.1|NM_020356.3	NP_001157586.1|NP_065089.2	Q9NQ75	CASS4_HUMAN	Cas scaffolding protein family member 4	521					cell adhesion	cytoplasm|cytoskeleton|focal adhesion	two-component sensor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(4)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	54						ACCAGATGCAGACCATCTCCA	0.473													T	55027795	G	T	55027795	3	4	506	1	0	0	0	0	1	0	0	0	2709	933	33	4	1581	4	CASS4	20	55027795	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	20943385	55027795	7997725	58	46059											
KRTAP21-2	337978	broad.mit.edu	37	chr21	32119422	32119422	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatatctacagccagagccGtatccacagccatagccaca	13	6	6	16	1	1	1	0	0	1	1	2	1	2	1	6	0	5	1	6	0	4	4			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr21:32119422G>A	ENST00000333892.2	-	1	129	c.99C>T	c.(97-99)taC>taT	p.Y33Y		NM_181617.1	NP_853648.1	Q3LI59	KR212_HUMAN	keratin associated protein 21-2	33						intermediate filament				lung(4)|skin(2)|upper_aerodigestive_tract(1)	7						agccagagccgtatccacagc	0.537													A	32119422	G	A	32119422	2	1	506	1	0	0	0	0	0	0	0	1	8597	1140	40	1		1	KRTAP21-2	21	32119422	Silent	SNP	G	TCGA-FG-A711-01A-21D-A33T-08		32119422	16010473	59	46060											
ZC3H7B	23264	broad.mit.edu	37	chr22	41723244	41723244	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcgctggaggacagcgagaAggcgctgggcctggacagtg	8	4	20	9	3	0	1	0	0	0	1	0	5	0	4	1	6	1	2	1	6	1	0			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chr22:41723244A>T	ENST00000352645.4	+	5	577	c.320A>T	c.(319-321)aAg>aTg	p.K107M	ZC3H7B_ENST00000351589.4_Missense_Mutation_p.K107M	NM_017590.4	NP_060060.3	Q9UGR2	Z3H7B_HUMAN	zinc finger CCCH-type containing 7B	107					interspecies interaction between organisms	nucleus	nucleic acid binding|protein binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						GACAGCGAGAAGGCGCTGGGC	0.632													T	41723244	A	T	41723244	3	4	506	1	0	0	0	0	1	0	0	0	17674	72	3	5	334	5	ZC3H7B	22	41723244	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08		41723244	9581322	60	46061											
ARSE	415	broad.mit.edu	37	chrX	2854890	2854890	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcaagggcagaaggtctTggccgtcaatcactctgcag	10	7	14	10	1	4	1	2	0	2	1	4	2	4	2	1	4	2	3	1	4	3	1			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:2854890T>C	ENST00000545496.1	-	11	1670	c.1379A>G	c.(1378-1380)cAa>cGa	p.Q460R	ARSE_ENST00000540563.1_Missense_Mutation_p.Q390R|ARSE_ENST00000381134.3_Missense_Mutation_p.Q435R	NM_001282628.1	NP_001269557.1	P51690	ARSE_HUMAN	arylsulfatase E (chondrodysplasia punctata 1)	435					skeletal system development	Golgi stack	arylsulfatase activity|metal ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGAAGGTCTTGGCCGTCAAT	0.567													C	2854890	T	C	2854890	3	2	506	1	0	0	0	0	1	0	0	0	995	1812	63	3	473	3	ARSE	23	2854890	Missense_Mutation	SNP	T	TCGA-FG-A711-01A-21D-A33T-08		2854890	152415670	61	46062											
RRAGB	10325	broad.mit.edu	37	chrX	55782315	55782315	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagagcagcgtgatgcccaTagatttgagaaaataagcaa	18	7	10	6	1	0	4	0	2	0	3	0	5	0	4	1	0	4	2	1	0	6	3			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:55782315T>C	ENST00000374941.4	+	8	1366	c.777T>C	c.(775-777)caT>caC	p.H259H	RRAGB_ENST00000262850.7_Silent_p.H287H	NM_006064.4	NP_006055.3	Q5VZM2	RRAGB_HUMAN	Ras-related GTP binding B	287					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade|signal transduction	Golgi apparatus|lysosome|nucleus	GTP binding|protein binding			breast(1)|endometrium(3)|large_intestine(5)|lung(3)|pancreas(1)|prostate(1)	14						GTGATGCCCATAGATTTGAGA	0.343													C	55782315	T	C	55782315	2	2	506	1	0	0	0	0	0	0	0	1	13764	1403	49	3		3	RRAGB	23	55782315	Silent	SNP	T	TCGA-FG-A711-01A-21D-A33T-08	52927425	55782315	99488245	62	46063											
ATRX	546	broad.mit.edu	37	chrX	76937737	76937740	+	Frame_Shift_Del	DEL	TTAA	TTAA	-																															attcatactgttgttccattTtaattacttttttcttaaag																										TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:76937737_76937740delTTAA	ENST00000373344.5	-	9	3222_3225	c.3008_3011delTTAA	c.(3007-3012)attaaafs	p.IK1003fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IK965fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1003					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)	TTGTTCCATTTTAATTACTTTTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937740	TTAA	-	76937737	7	5	506	1	0	1	0	1	0	0	0	0	1213	1841	64	0	4575	0	ATRX	23	76937737	Frame_Shift_Del	DEL	TTAA	TCGA-FG-A711-01A-21D-A33T-08	21155422	76937737	78332823	63	46064											
SLC25A5	292	broad.mit.edu	37	chrX	118602491	118602491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaacatgacagatgccGctgtgtccttcgccaaggac	9	10	9	13	2	1	2	1	1	0	1	3	3	2	3	3	1	2	1	3	1	2	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118602491G>A	ENST00000317881.8	+	1	129	c.13G>A	c.(13-15)Gct>Act	p.A5T		NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	5					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GACAGATGCCGCTGTGTCCTT	0.647													A	118602491	G	A	118602491	3	1	506	1	0	0	0	0	1	0	0	0	14606	1087	38	1	15	1	SLC25A5	23	118602491	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	41664754	118602491	36668069	64	46065											
NKRF	55922	broad.mit.edu	37	chrX	118725078	118725078	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatcttgtatactgaaagAgtcttgagtataatcttggt	11	15	8	7	0	3	3	0	2	3	1	3	3	3	3	1	1	1	2	1	1	5	7			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:118725078A>T	ENST00000371527.1	-	2	962	c.310T>A	c.(310-312)Tct>Act	p.S104T	NKRF_ENST00000487600.1_5'UTR|NKRF_ENST00000304449.5_Missense_Mutation_p.S104T|NKRF_ENST00000542113.1_Missense_Mutation_p.S119T	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	104	Active repression domain.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						ATACTGAAAGAGTCTTGAGTA	0.393													T	118725078	A	T	118725078	3	4	506	1	0	0	0	0	1	0	0	0	10523	304	11	5	1766	5	NKRF	23	118725078	Missense_Mutation	SNP	A	TCGA-FG-A711-01A-21D-A33T-08	122587	118725078	36545482	65	46066											
SPANXN2	494119	broad.mit.edu	37	chrX	142803692	142803692	+	Frame_Shift_Del	DEL	T	T	-																															ctaacaatcttacctcatcaTtttttttgttattggattca																										TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:142803692delT	ENST00000370498.1	-	1	824	c.71delA	c.(70-72)aatfs	p.N24fs		NM_001009615.1	NP_001009615.1	Q5MJ10	SPXN2_HUMAN	SPANX family, member N2	24										NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27	Acute lymphoblastic leukemia(192;6.56e-05)					TACCTCATCATTTTTTTTGTT	0.443													-	142803692	T	-	142803692	7	5	506	1	0	1	0	1	0	0	0	0	15087	1493	52	0	479	0	SPANXN2	23	142803692	Frame_Shift_Del	DEL	T	TCGA-FG-A711-01A-21D-A33T-08	24078614	142803692	12466868	66	46067											
L1CAM	3897	broad.mit.edu	37	chrX	153128221	153128221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactgtactggccaatgaacGaaccatcctcgttgaactga	12	9	8	12	2	0	3	0	3	0	0	2	4	1	3	3	1	4	2	3	1	5	2			TCGA-FG-A711-01A-21D-A33T-08	TCGA-FG-A711-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68a96a9b-dc21-4670-9138-97406a67574a	1d9303e4-6cac-40b9-a4e0-6aaf1eb9217c	g.chrX:153128221G>A	ENST00000370060.1	-	29	3860	c.3671C>T	c.(3670-3672)tCg>tTg	p.S1224L	L1CAM_ENST00000370055.1_Missense_Mutation_p.S1215L|L1CAM_ENST00000370057.3_Missense_Mutation_p.S1224L|L1CAM_ENST00000361699.4_Missense_Mutation_p.S1220L|L1CAM_ENST00000538883.1_Missense_Mutation_p.S1222L|L1CAM_ENST00000361981.3_Missense_Mutation_p.S1215L|L1CAM_ENST00000543994.1_Missense_Mutation_p.S1226L	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	1224			S -> L (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCAATGAACGAACCATCCTC	0.607													A	153128221	G	A	153128221	3	1	506	1	0	0	0	0	1	0	0	0	8647	1059	37	1	106	1	L1CAM	23	153128221	Missense_Mutation	SNP	G	TCGA-FG-A711-01A-21D-A33T-08	10324529	153128221	2142339	67	46068											
TAS1R1	80835	broad.mit.edu	37	chr1	6639509	6639509	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaacatgatggctgggctGagcagcctgagcagcggctt	8	7	15	11	1	0	3	0	3	0	0	0	3	0	3	2	3	5	5	2	3	1	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:6639509G>T	ENST00000333172.6	+	6	2584	c.2391G>T	c.(2389-2391)ctG>ctT	p.L797L	TAS1R1_ENST00000328191.4_3'UTR|TAS1R1_ENST00000351136.3_Silent_p.L543L	NM_138697.3	NP_619642.2	Q7RTX1	TS1R1_HUMAN	taste receptor, type 1, member 1	797					sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(13)|ovary(1)|skin(1)|urinary_tract(2)	29	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;8.73e-34)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.29e-07)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000896)|BRCA - Breast invasive adenocarcinoma(365;0.00108)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0642)		TGGCTGGGCTGAGCAGCCTGA	0.597													T	6639509	G	T	6639509	2	4	507	1	0	0	0	0	0	0	0	1	15659	1277	45	4		4	TAS1R1	1	6639509	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		6639509	242611112	1	46069											
TNFRSF9	3604	broad.mit.edu	37	chr1	7998781	7998781	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatctttgaactcatacCtttacactgcctgcatatgt	12	15	4	10	0	2	1	1	1	1	0	2	1	2	1	2	0	5	1	2	0	6	6			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:7998781C>A	ENST00000377507.3	-	3	374	c.208G>T	c.(208-210)Ggt>Tgt	p.G70C		NM_001561.5	NP_001552.2	Q07011	TNR9_HUMAN	tumor necrosis factor receptor superfamily, member 9	70					induction of apoptosis|negative regulation of cell proliferation	integral to plasma membrane	binding|receptor activity	p.G70C(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	Ovarian(185;0.0634)|all_lung(157;0.151)	all_epithelial(116;9.63e-21)|all_lung(118;1.29e-06)|Lung NSC(185;7.5e-06)|Renal(390;0.000147)|Breast(348;0.000625)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;2.93e-71)|GBM - Glioblastoma multiforme(8;3.72e-37)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;7.71e-06)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000419)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00103)|READ - Rectum adenocarcinoma(331;0.0649)		GAACTCATACCTTTACACTGC	0.398													A	7998781	C	A	7998781	5	1	507	1	0	0	0	0	0	0	1	0	16400	695	24	4	583	4	TNFRSF9	1	7998781	Splice_Site	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	1359272	7998781	241251840	2	46070											
PRAMEF4	400735	broad.mit.edu	37	chr1	12943140	12943140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcctccagggtggacatggCcaaagcttggtcccttagca	8	9	11	13	0	0	0	0	0	0	0	3	1	3	1	4	4	2	2	4	4	2	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr1:12943140C>G	ENST00000235349.5	-	2	146	c.76G>C	c.(76-78)Gcc>Ccc	p.A26P		NM_001009611.2	NP_001009611.1	O60810	PRAM4_HUMAN	PRAME family member 4	26										breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(3)|skin(1)	24	Ovarian(185;0.249)	Lung NSC(185;3.67e-05)|all_lung(284;4.03e-05)|Renal(390;0.000147)|Breast(348;0.000278)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTGGACATGGCCAAAGCTTGG	0.577													G	12943140	C	G	12943140	3	3	507	1	0	0	0	0	1	0	0	0	12522	739	26	4	1372	4	PRAMEF4	1	12943140	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	4944359	12943140	236307481	3	46071											
ALMS1	7840	broad.mit.edu	37	chr2	73650092	73650092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaaagtgaactaagttttGcacctctgaggtaggatgat	13	12	10	6	0	2	3	1	3	1	0	2	4	2	4	1	2	2	3	1	2	4	4			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:73650092G>A	ENST00000264448.6	+	4	865	c.754G>A	c.(754-756)Gca>Aca	p.A252T	ALMS1_ENST00000377715.1_Missense_Mutation_p.A252T|ALMS1_ENST00000409009.1_Missense_Mutation_p.A210T	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	252					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						ACTAAGTTTTGCACCTCTGAG	0.378													A	73650092	G	A	73650092	3	1	507	1	0	0	0	0	1	0	0	0	535	1319	46	2	768	2	ALMS1	2	73650092	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		73650092	169549281	4	46072											
NMS	129521	broad.mit.edu	37	chr2	101097609	101097609	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacactgcgacctggggaCgaccctttttccttttcagg	7	12	9	13	2	2	0	2	0	0	0	3	3	3	1	3	3	1	0	3	3	0	4	rs142655356		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:101097609C>T	ENST00000376865.1	+	8	401	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	132					neuropeptide signaling pathway|regulation of smooth muscle contraction	extracellular region				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GACCTGGGGACGACCCTTTTT	0.423													T	101097609	C	T	101097609	4	4	507	1	0	0	0	0	0	1	0	0	10578	528	19	1	424	1	NMS	2	101097609	Nonsense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	27447517	101097609	142101764	5	46073											
EPC2	26122	broad.mit.edu	37	chr2	149447887	149447887	+	Frame_Shift_Del	DEL	C	C	-																															gagagcaacgtcaactattaCaatcgcttgtacaaaggaga																										TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr2:149447887delC	ENST00000258484.6	+	2	292	c.258delC	c.(256-258)tacfs	p.Y86fs	EPC2_ENST00000409654.1_Frame_Shift_Del_p.Y86fs	NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	86					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		TCAACTATTACAATCGCTTGT	0.348													-	149447887	C	-	149447887	7	5	507	1	0	1	0	1	0	0	0	0	5202	489	17	0	264	0	EPC2	2	149447887	Frame_Shift_Del	DEL	C	TCGA-FG-A713-01A-11D-A32B-08	48350278	149447887	93751486	6	46074											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	507	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	59665225	209113112	34086261	7	46075											
FANCD2	2177	broad.mit.edu	37	chr3	10128939	10128939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcttctgctcagaacaaaGaaaaaattggtgatgggcct	14	9	10	8	0	2	3	1	1	1	2	2	3	2	3	1	2	3	2	1	2	5	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:10128939G>A	ENST00000287647.3	+	34	3550	c.3457G>A	c.(3457-3459)Gaa>Aaa	p.E1153K	FANCD2_ENST00000383806.1_Missense_Mutation_p.E1153K|FANCD2_ENST00000419585.1_Missense_Mutation_p.E1153K|FANCD2OS_ENST00000524279.1_Intron|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.E1153K	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1153					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TCAGAACAAAGAAAAAATTGG	0.348			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10128939	G	A	10128939	3	1	507	1	0	0	0	0	1	0	0	0	5714	943	33	2	3587	2	FANCD2	3	10128939	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		10128939	187893491	8	46076											
GPR128	84873	broad.mit.edu	37	chr3	100378648	100378648	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgttatgtttattacaatctCgatcaaagtgctgtggaaga	12	15	9	5	1	2	1	1	0	1	1	3	3	2	2	0	1	2	3	0	1	6	4	rs144717099		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:100378648C>G	ENST00000273352.3	+	14	2208	c.1940C>G	c.(1939-1941)tCg>tGg	p.S647W	GPR128_ENST00000475887.1_Missense_Mutation_p.S352W|GPR128_ENST00000481506.1_3'UTR	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	647					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						ATTACAATCTCGATCAAAGTG	0.438													G	100378648	C	G	100378648	3	3	507	1	0	0	0	0	1	0	0	0	6695	893	31	4	1994	4	GPR128	3	100378648	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	90249709	100378648	97643782	9	46077											
PLXND1	23129	broad.mit.edu	37	chr3	129305068	129305068	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccgccgcacccacgcagtcCccacaggtggagtgcacgtt	7	6	11	17	4	0	0	0	0	0	0	2	1	2	1	5	2	1	4	5	2	0	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr3:129305068C>G	ENST00000393239.1	-	4	1846	c.1668G>C	c.(1666-1668)ggG>ggC	p.G556G	PLXND1_ENST00000324093.4_Silent_p.G556G			Q9Y4D7	PLXD1_HUMAN	plexin D1	556					axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						CCACGCAGTCCCCACAGGTGG	0.692													G	129305068	C	G	129305068	2	3	507	1	0	0	0	0	0	0	0	1	12204	610	22	4		4	PLXND1	3	129305068	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	28926420	129305068	68717362	10	46078											
PCDH7	5099	broad.mit.edu	37	chr4	30724278	30724278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagacgagaacgacaacGtgccgtccattgaaatccgc	14	6	9	12	5	1	3	1	1	0	2	3	5	3	3	3	0	3	0	3	0	4	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:30724278G>A	ENST00000361762.2	+	1	2242	c.1234G>A	c.(1234-1236)Gtg>Atg	p.V412M	PCDH7_ENST00000543491.1_Missense_Mutation_p.V412M	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	412	Cadherin 3.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAACGACAACGTGCCGTCCAT	0.632													A	30724278	G	A	30724278	3	1	507	1	0	0	0	0	1	0	0	0	11592	1145	40	1	1236	1	PCDH7	4	30724278	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		30724278	160429998	11	46079											
FRAS1	80144	broad.mit.edu	37	chr4	79207664	79207664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtgcctacctgtggggacgGcttctaccaagatcgccatt	7	11	11	12	2	1	1	0	0	1	1	2	2	1	2	4	3	3	1	4	3	3	4			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr4:79207664G>A	ENST00000264895.6	+	14	1945	c.1505G>A	c.(1504-1506)gGc>gAc	p.G502D	FRAS1_ENST00000325942.6_Missense_Mutation_p.G502D|FRAS1_ENST00000264899.6_Missense_Mutation_p.G502D	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	502					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGGGGACGGCTTCTACCAA	0.622													A	79207664	G	A	79207664	3	1	507	1	0	0	0	0	1	0	0	0	6093	1203	42	2	1559	2	FRAS1	4	79207664	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	48483386	79207664	111946612	12	46080											
GALNT10	55568	broad.mit.edu	37	chr5	153755873	153755873	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgaagactacatggcccTtttccccagtgtgaggattc	8	13	9	11	0	1	3	0	2	1	1	3	4	2	4	3	2	1	0	3	2	2	5			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr5:153755873T>C	ENST00000297107.6	+	5	742	c.605T>C	c.(604-606)cTt>cCt	p.L202P	GALNT10_ENST00000377661.2_Intron|GALNT10_ENST00000425427.2_Missense_Mutation_p.L202P|SAP30L-AS1_ENST00000519727.1_RNA	NM_198321.3	NP_938080.1	Q86SR1	GLT10_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 10 (GalNAc-T10)	202	Catalytic subdomain A.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	32	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)|all_hematologic(541;0.21)	Kidney(363;8.21e-05)|KIRC - Kidney renal clear cell carcinoma(527;0.000577)			TACATGGCCCTTTTCCCCAGT	0.502													C	153755873	T	C	153755873	3	2	507	1	0	0	0	0	1	0	0	0	6262	1609	56	3	623	3	GALNT10	5	153755873	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08		153755873	27159387	13	46081											
RADIL	55698	broad.mit.edu	37	chr7	4917591	4917591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accttcaggacaccaggggcCgacagctgggtggagagctc	9	5	15	12	1	1	1	1	0	0	1	2	4	1	2	3	5	2	2	3	5	0	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:4917591C>T	ENST00000399583.3	-	2	367	c.180G>A	c.(178-180)tcG>tcA	p.S60S	RADIL_ENST00000536091.1_Silent_p.S60S	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	60					cell adhesion|multicellular organismal development|signal transduction		protein binding	p.S60S(1)		NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		CACCAGGGGCCGACAGCTGGG	0.657													T	4917591	C	T	4917591	2	4	507	1	0	0	0	0	0	0	0	1	13085	639	23	1		1	RADIL	7	4917591	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		4917591	154221072	14	46082											
CNOT4	4850	broad.mit.edu	37	chr7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaggtactattgagagaaTtggcatttgtagctgcagca	14	11	11	5	0	0	2	0	1	0	1	0	3	0	2	0	2	4	6	0	2	6	6			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr7:135078909T>C	ENST00000428680.2	-	10	1658	c.1379A>G	c.(1378-1380)aAt>aGt	p.N460S	CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502													C	135078909	T	C	135078909	3	2	507	1	0	0	0	0	1	0	0	0	3652	1493	52	3	653	3	CNOT4	7	135078909	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	130161318	135078909	24059754	15	46083											
PRSS55	203074	broad.mit.edu	37	chr8	10387145	10387145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgaacctttctgtggcGgctccatcctcaacaagtgg	9	10	11	11	1	2	1	1	1	1	0	4	2	4	1	3	3	2	1	3	3	4	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:10387145G>A	ENST00000328655.3	+	2	323	c.283G>A	c.(283-285)Ggc>Agc	p.G95S	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.G95S	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	95	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TTTCTGTGGCGGCTCCATCCT	0.547													A	10387145	G	A	10387145	3	1	507	1	0	0	0	0	1	0	0	0	12719	1116	39	1	289	1	PRSS55	8	10387145	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		10387145	135976877	16	46084											
ANK1	286	broad.mit.edu	37	chr8	41521247	41521247	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcccctggaatattcTgaaactcattcccctggaat	9	12	6	14	0	2	1	1	1	1	0	4	3	4	3	5	2	2	1	5	2	4	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr8:41521247T>C	ENST00000396942.1	-	40	5491	c.5408A>G	c.(5407-5409)cAg>cGg	p.Q1803R	ANK1_ENST00000265709.8_Missense_Mutation_p.Q1844R|ANK1_ENST00000522231.1_Missense_Mutation_p.Q78R|ANK1_ENST00000347528.4_Missense_Mutation_p.Q1803R|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000352337.4_Missense_Mutation_p.Q1803R|ANK1_ENST00000289734.7_Missense_Mutation_p.Q1803R|ANK1_ENST00000314214.8_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000379758.2_Missense_Mutation_p.Q1803R|ANK1_ENST00000522543.1_Missense_Mutation_p.Q78R|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000457297.1_Missense_Mutation_p.Q78R			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1803	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TGGAATATTCTGAAACTCATT	0.512													C	41521247	T	C	41521247	3	2	507	1	0	0	0	0	1	0	0	0	620	1580	55	3	352	3	ANK1	8	41521247	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	31134102	41521247	104842775	17	46085											
LTBP3	4054	broad.mit.edu	37	chr11	65320906	65320906	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcactcacactgcagctgGggacacttgtggcacttgct	9	9	11	12	0	1	0	1	0	0	0	1	1	1	1	0	3	4	5	0	3	1	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:65320906G>A	ENST00000301873.5	-	4	1228	c.960C>T	c.(958-960)ccC>ccT	p.P320P	LTBP3_ENST00000322147.4_Silent_p.P320P|LTBP3_ENST00000536982.1_Intron	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	320	TB 1.					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						ACTGCAGCTGGGGACACTTGT	0.667													A	65320906	G	A	65320906	2	1	507	1	0	0	0	0	0	0	0	1	9145	1219	43	2		2	LTBP3	11	65320906	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		65320906	69685610	18	46086											
RBM7	10179	broad.mit.edu	37	chr11	114278301	114278301	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagctcccagtggcgccaAggtacaccatcatcacagcg	11	6	9	15	2	3	0	3	0	0	0	4	0	4	0	3	2	3	2	3	2	3	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:114278301A>C	ENST00000540163.1	+	5	1215	c.573A>C	c.(571-573)caA>caC	p.Q191H	RBM7_ENST00000544582.1_Intron|RP11-212D19.4_ENST00000544347.1_Intron|RBM7_ENST00000541475.1_3'UTR|RBM7_ENST00000375490.5_Missense_Mutation_p.Q192H|RBM7_ENST00000545678.1_Missense_Mutation_p.Q71H			Q9Y580	RBM7_HUMAN	RNA binding motif protein 7	191					meiosis		nucleotide binding|protein binding|RNA binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	17		all_cancers(61;5.06e-12)|all_epithelial(67;5.3e-06)|all_hematologic(158;7.68e-05)|Acute lymphoblastic leukemia(157;0.000966)|Melanoma(852;0.00153)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Breast(348;0.0818)|Prostate(24;0.104)		BRCA - Breast invasive adenocarcinoma(274;2.56e-06)|Epithelial(105;4.17e-05)|all cancers(92;0.000348)		AGTGGCGCCAAGGTACACCAT	0.438													C	114278301	A	C	114278301	3	2	507	1	0	0	0	0	1	0	0	0	13233	69	3	5	591	5	RBM7	11	114278301	Missense_Mutation	SNP	A	TCGA-FG-A713-01A-11D-A32B-08	48957395	114278301	20728215	19	46087											
FEZ1	9638	broad.mit.edu	37	chr11	125359621	125359621	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctccgggtcctccgagcagGagggtcgaaggtcctcaaac	8	6	13	14	3	1	0	1	0	0	0	6	3	5	1	5	4	2	1	5	4	2	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr11:125359621G>C	ENST00000278919.3	-	2	287	c.53C>G	c.(52-54)tCc>tGc	p.S18C	FEZ1_ENST00000524435.1_Missense_Mutation_p.S18C|FEZ1_ENST00000366139.3_Missense_Mutation_p.S18C	NM_005103.4	NP_005094.1	Q99689	FEZ1_HUMAN	fasciculation and elongation protein zeta 1 (zygin I)	18					axon guidance|cell adhesion|transport	microtubule|plasma membrane				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	24	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0934)		CTCCGAGCAGGAGGGTCGAAG	0.537													C	125359621	G	C	125359621	3	2	507	1	0	0	0	0	1	0	0	0	5872	1174	41	4	1165	4	FEZ1	11	125359621	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	11081320	125359621	9646895	20	46088											
SLC6A12	6539	broad.mit.edu	37	chr12	307979	307979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacctgagggtccttgaggCggaacaaatctggcttcaag	11	9	12	9	1	2	2	1	2	1	0	3	3	3	3	2	4	2	1	2	4	4	3			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:307979C>T	ENST00000428720.1	-	8	1573	c.830G>A	c.(829-831)cGc>cAc	p.R277H	SLC6A12_ENST00000536824.1_Missense_Mutation_p.R277H|SLC6A12_ENST00000359674.4_Missense_Mutation_p.R277H|SLC6A12_ENST00000424061.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000397296.2_Missense_Mutation_p.R277H|SLC6A12_ENST00000538272.1_5'UTR	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	277					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			GTCCTTGAGGCGGAACAAATC	0.517													T	307979	C	T	307979	3	4	507	1	0	0	0	0	1	0	0	0	14769	768	27	1	1050	1	SLC6A12	12	307979	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		307979	133543916	21	46089											
CCNT1	904	broad.mit.edu	37	chr12	49087746	49087746	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctgggcagcatatgcataTtgtgacttcacattggcttc	8	15	9	9	0	2	1	1	1	1	0	3	1	2	1	0	2	2	4	0	2	2	7			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49087746T>C	ENST00000261900.3	-	9	1473	c.1251A>G	c.(1249-1251)caA>caG	p.Q417Q		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	417					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						CATATGCATATTGTGACTTCA	0.468													C	49087746	T	C	49087746	2	2	507	1	0	0	0	0	0	0	0	1	2964	1490	52	3		3	CCNT1	12	49087746	Silent	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	48779767	49087746	84764149	22	46090											
TUBA1A	7846	broad.mit.edu	37	chr12	49580473	49580476	+	Frame_Shift_Del	DEL	GAAG	GAAG	-																															gtctcactgaagaaggtgttGaaggaatcatctcctccccc																										TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:49580473_49580476delGAAG	ENST00000301071.7	-	2	488_491	c.144_147delCTTC	c.(142-147)tccttcfs	p.SF48fs	TUBA1A_ENST00000295766.5_Frame_Shift_Del_p.SF48fs|TUBA1A_ENST00000550767.1_Frame_Shift_Del_p.SF13fs|TUBA1A_ENST00000546918.1_Frame_Shift_Del_p.SF48fs	NM_001270400.1|NM_006009.3	NP_001257329.1|NP_006000.2	Q71U36	TBA1A_HUMAN	tubulin, alpha 1a	48					'de novo' posttranslational protein folding|G2/M transition of mitotic cell cycle|microtubule-based movement|protein polymerization	cytosol|microtubule	GTP binding|GTPase activity|structural molecule activity			stomach(1)|upper_aerodigestive_tract(1)	2						AGAAGGTGTTGAAGGAATCATCTC	0.559													-	49580476	GAAG	-	49580473	7	5	507	1	0	1	0	1	0	0	0	0	16845	1281	45	0	1220	0	TUBA1A	12	49580473	Frame_Shift_Del	DEL	GAAG	TCGA-FG-A713-01A-11D-A32B-08	492727	49580473	84271422	23	46091											
TAC3	6866	broad.mit.edu	37	chr12	57409569	57409569	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggatggctgtgaatagcaGcatgatcctcatggtgcctg	9	10	13	9	0	1	2	1	2	0	0	2	3	2	3	2	3	3	3	2	3	2	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:57409569G>A	ENST00000458521.2	-	2	172	c.13C>T	c.(13-15)Ctg>Ttg	p.L5L	TAC3_ENST00000415231.1_Silent_p.L5L|TAC3_ENST00000441881.1_Silent_p.L5L	NM_013251.3	NP_037383.1	Q9UHF0	TKNK_HUMAN	tachykinin 3	5					female pregnancy|neuropeptide signaling pathway|tachykinin receptor signaling pathway	extracellular space|soluble fraction	receptor binding			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7						GTGAATAGCAGCATGATCCTC	0.547													A	57409569	G	A	57409569	2	1	507	1	0	0	0	0	0	0	0	1	15596	962	34	2		2	TAC3	12	57409569	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	7829096	57409569	76442326	24	46092											
LRRIQ1	84125	broad.mit.edu	37	chr12	85459188	85459188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaacttaagtacattgatgCacaggtatgctctctgccct	12	12	7	10	0	1	1	0	1	1	0	2	1	1	1	1	1	5	4	1	1	5	4			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:85459188C>T	ENST00000393217.2	+	9	2601	c.2540C>T	c.(2539-2541)gCa>gTa	p.A847V		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	847										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		TACATTGATGCACAGGTATGC	0.333													T	85459188	C	T	85459188	3	4	507	1	0	0	0	0	1	0	0	0	9099	710	25	2	2570	2	LRRIQ1	12	85459188	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	28049619	85459188	48392707	25	46093											
ACACB	32	broad.mit.edu	37	chr12	109703224	109703224	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacaacaaccaggtggttGtgcagtggctggaacagcac	11	6	15	9	0	0	0	0	0	0	0	0	2	0	2	1	5	5	4	1	5	3	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:109703224G>T	ENST00000338432.7	+	52	7263	c.7144G>T	c.(7144-7146)Gtg>Ttg	p.V2382L	ACACB_ENST00000377854.5_Missense_Mutation_p.V2312L|ACACB_ENST00000377848.3_Missense_Mutation_p.V2382L|ACACB_ENST00000543201.1_3'UTR			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	2382					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCAGGTGGTTGTGCAGTGGCT	0.627													T	109703224	G	T	109703224	3	4	507	1	0	0	0	0	1	0	0	0	107	1377	48	4	7346	4	ACACB	12	109703224	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	24244036	109703224	24148671	26	46094											
DTX1	1840	broad.mit.edu	37	chr12	113533219	113533219	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaacgagaaaggccggaaGgtgggtgcccagccgtgagg	12	3	17	9	3	0	2	0	1	0	1	0	4	0	3	3	5	4	0	3	5	4	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:113533219G>T	ENST00000257600.3	+	8	2141	c.1638G>T	c.(1636-1638)aaG>aaT	p.K546N	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	546					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AAGGCCGGAAGGTGGGTGCCC	0.632													T	113533219	G	T	113533219	5	4	507	1	0	0	0	0	0	0	1	0	4832	1014	35	4	1668	4	DTX1	12	113533219	Splice_Site	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	3829995	113533219	20318676	27	46095											
EIF2B1	1967	broad.mit.edu	37	chr12	124111476	124111476	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtacaatgaaaggcagTgctgactgctggcaagctgg	13	7	14	7	0	0	2	0	2	0	0	0	2	0	2	0	4	4	6	0	4	5	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr12:124111476T>C	ENST00000537073.1	-	5	805	c.597A>G	c.(595-597)gcA>gcG	p.A199A	EIF2B1_ENST00000539951.1_Intron|EIF2B1_ENST00000424014.2_Intron			Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	0					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGAAAGGCAGTGCTGACTGCT	0.453													C	124111476	T	C	124111476	2	2	507	1	0	0	0	0	0	0	0	1	5039	1711	59	3		3	EIF2B1	12	124111476	Silent	SNP	T	TCGA-FG-A713-01A-11D-A32B-08	10578257	124111476	9740419	28	46096											
LECT1	11061	broad.mit.edu	37	chr13	53298165	53298165	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctctgtttggtcacggcGcccacctcaggaatacgagc	8	9	11	13	3	3	0	2	0	1	0	3	2	3	1	2	3	3	2	2	3	2	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr13:53298165G>A	ENST00000448904.2	-	4	545	c.435C>T	c.(433-435)ggC>ggT	p.G145G	LECT1_ENST00000377962.3_Silent_p.G145G	NM_001011705.1|NM_007015.2	NP_001011705.1|NP_008946.1	O75829	LECT1_HUMAN	leukocyte cell derived chemotaxin 1	145	BRICHOS.				cartilage development|proteoglycan metabolic process	endomembrane system|extracellular region|integral to membrane				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|urinary_tract(1)	15		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.38e-08)		TGGTCACGGCGCCCACCTCAG	0.483													A	53298165	G	A	53298165	2	1	507	1	0	0	0	0	0	0	0	1	8771	1074	38	1		1	LECT1	13	53298165	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		53298165	61871713	29	46097											
HECTD1	25831	broad.mit.edu	37	chr14	31618142	31618142	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgaatgtttggttcctcTattagattcaaatacaaaac	16	14	5	6	0	2	2	1	1	1	1	3	2	3	2	1	1	2	2	1	1	8	6			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:31618142T>C	ENST00000399332.1	-	14	2868	c.2380A>G	c.(2380-2382)Aga>Gga	p.R794G	HECTD1_ENST00000553700.1_Missense_Mutation_p.R794G	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	794					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		TTGGTTCCTCTATTAGATTCA	0.308													C	31618142	T	C	31618142	3	2	507	1	0	0	0	0	1	0	0	0	7094	1530	53	3	5572	3	HECTD1	14	31618142	Missense_Mutation	SNP	T	TCGA-FG-A713-01A-11D-A32B-08		31618142	75731398	30	46098											
DAAM1	23002	broad.mit.edu	37	chr14	59797962	59797962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaatcccaggtggaccctcGcctggagcaccaggagggcc	8	5	13	15	1	1	0	1	0	0	0	3	3	2	3	5	5	1	1	5	5	1	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr14:59797962G>A	ENST00000395125.1	+	13	1619	c.1596G>A	c.(1594-1596)tcG>tcA	p.S532S	DAAM1_ENST00000351081.1_Silent_p.S532S|DAAM1_ENST00000360909.3_Silent_p.S532S	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	532	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		GTGGACCCTCGCCTGGAGCAC	0.517													A	59797962	G	A	59797962	2	1	507	1	0	0	0	0	0	0	0	1	4249	1074	38	1		1	DAAM1	14	59797962	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	28179820	59797962	47551578	31	46099											
GREM1	26585	broad.mit.edu	37	chr15	33023158	33023158	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgacggagcgcaaatacctGaagcgagactggtgcaaaac	14	5	13	9	3	0	3	0	2	0	1	0	5	0	4	1	2	5	2	1	2	5	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr15:33023158G>A	ENST00000300177.4	+	2	456	c.267G>A	c.(265-267)ctG>ctA	p.L89L	GREM1_ENST00000560830.1_Silent_p.L48L|GREM1_ENST00000322805.4_Silent_p.L48L|GREM1_ENST00000560677.1_3'UTR	NM_001191322.1|NM_001191323.1|NM_013372.6	NP_001178251.1|NP_001178252.1|NP_037504.1	O60565	GREM1_HUMAN	gremlin 1, DAN family BMP antagonist	89					negative regulation of BMP signaling pathway|nervous system development|regulation of epithelial to mesenchymal transition	extracellular space	cytokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(6)|prostate(1)	10		all_lung(180;1.49e-09)		all cancers(64;2.97e-18)|Epithelial(43;3.15e-12)|GBM - Glioblastoma multiforme(186;2.32e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0107)		GCAAATACCTGAAGCGAGACT	0.632													A	33023158	G	A	33023158	2	1	507	1	0	0	0	0	0	0	0	1	6816	1277	45	2		2	GREM1	15	33023158	Silent	SNP	G	TCGA-FG-A713-01A-11D-A32B-08		33023158	69508234	32	46100											
SEC14L5	9717	broad.mit.edu	37	chr16	5053535	5053535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctgggtcggctgctcatCgtgcgagccccccgagtctt	4	9	12	16	4	2	0	1	0	1	0	4	2	2	0	4	2	3	2	4	2	0	1			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr16:5053535C>T	ENST00000251170.7	+	11	1443	c.1263C>T	c.(1261-1263)atC>atT	p.I421I		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	421	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GGCTGCTCATCGTGCGAGCCC	0.657													T	5053535	C	T	5053535	2	4	507	1	0	0	0	0	0	0	0	1	14078	874	31	1		1	SEC14L5	16	5053535	Silent	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		5053535	85301218	33	46101											
SDK2	54549	broad.mit.edu	37	chr17	71382018	71382018	+	Frame_Shift_Del	DEL	G	G	-																															tagcacggaggtggtggtgtGgggcgtcacggagaggatgg																										TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr17:71382018delG	ENST00000392650.3	-	32	4537	c.4537delC	c.(4537-4539)cacfs	p.H1513fs	SDK2_ENST00000388726.3_Frame_Shift_Del_p.H1513fs	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	1513	Fibronectin type-III 10.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTGGTGGTGTGGGGCGTCACG	0.632													-	71382018	G	-	71382018	7	5	507	1	0	1	0	1	0	0	0	0	14062	1348	47	0	2037	0	SDK2	17	71382018	Frame_Shift_Del	DEL	G	TCGA-FG-A713-01A-11D-A32B-08		71382018	9813192	34	46102											
CEP192	55125	broad.mit.edu	37	chr18	13100327	13100327	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgaaagttcaaattcgAgaagatttaactcaagtgga	16	12	9	4	1	2	3	2	1	0	2	3	5	2	4	0	1	1	1	0	1	5	5			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr18:13100327A>G	ENST00000506447.1	+	38	6767	c.6687A>G	c.(6685-6687)cgA>cgG	p.R2229R	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Silent_p.R1754R|CEP192_ENST00000325971.8_Silent_p.R1633R	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1824										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCAAATTCGAGAAGATTTAA	0.343													G	13100327	A	G	13100327	2	3	507	1	0	0	0	0	0	0	0	1	3281	291	11	3		3	CEP192	18	13100327	Silent	SNP	A	TCGA-FG-A713-01A-11D-A32B-08		13100327	64976921	35	46103											
MED16	10025	broad.mit.edu	37	chr19	885978	885978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgtggccaccacgatgttgCcgccgccggtgaaggcgatg	6	6	15	14	6	0	1	0	1	0	0	0	3	0	1	6	3	1	1	6	3	1	1	rs137978287		TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:885978C>G	ENST00000312090.6	-	5	821	c.671G>C	c.(670-672)gGc>gCc	p.G224A	MED16_ENST00000606828.1_Intron|MED16_ENST00000589119.1_Missense_Mutation_p.G224A|MED16_ENST00000395808.3_Missense_Mutation_p.G224A|MED16_ENST00000269814.4_Missense_Mutation_p.G224A|MED16_ENST00000325464.1_Missense_Mutation_p.G224A			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	224					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CACGATGTTGCCGCCGCCGGT	0.701													G	885978	C	G	885978	3	3	507	1	0	0	0	0	1	0	0	0	9509	739	26	4	2010	4	MED16	19	885978	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		885978	58243005	36	46104											
CIC	23152	broad.mit.edu	37	chr19	42791744	42791744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgccttcatgatcttCagcaagcggcaccgggccct	9	9	10	13	2	3	2	2	2	1	0	3	2	3	2	3	2	3	2	3	2	2	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chr19:42791744C>A	ENST00000572681.2	+	6	3425	c.3357C>A	c.(3355-3357)ttC>ttA	p.F1119L	CIC_ENST00000575354.2_Missense_Mutation_p.F210L|CIC_ENST00000160740.3_Missense_Mutation_p.F210L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	210	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCATGATCTTCAGCAAGCGGC	0.622			"Mis, F, S"		oligodendroglioma								A	42791744	C	A	42791744	3	1	507	1	0	0	0	0	1	0	0	0	3454	825	29	4	648	4	CIC	19	42791744	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	41905766	42791744	16337239	37	46105											
ATRX	546	broad.mit.edu	37	chrX	76944310	76944310	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatcaacagatcattacataCcttacaaataagaacttgca	18	11	3	9	0	2	2	2	0	0	2	2	2	2	2	1	0	6	1	1	0	8	6			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:76944310C>T	ENST00000373344.5	-	7	809		c.e7+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TCATTACATACCTTACAAATA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76944310	C	T	76944310	5	4	507	1	0	0	0	0	0	0	1	0	1213	521	18	2	6999	2	ATRX	23	76944310	Splice_Site	SNP	C	TCGA-FG-A713-01A-11D-A32B-08		76944310	78326250	38	46106											
SLC25A5	292	broad.mit.edu	37	chrX	118603879	118603879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctggcatcgggtggtgccGcaggggccacatccctgtgt	5	9	15	12	2	1	0	0	0	1	0	3	0	2	0	3	5	1	2	3	5	0	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:118603879G>A	ENST00000317881.8	+	2	483	c.367G>A	c.(367-369)Gca>Aca	p.A123T	SLC25A5_ENST00000460013.1_3'UTR	NM_001152.4	NP_001143.2	P05141	ADT2_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5	123					chromosome segregation|energy reserve metabolic process|interspecies interaction between organisms|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane|mitochondrial nucleoid|MMXD complex	adenine transmembrane transporter activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|stomach(2)	12					Clodronate(DB00720)	GGGTGGTGCCGCAGGGGCCAC	0.527													A	118603879	G	A	118603879	3	1	507	1	0	0	0	0	1	0	0	0	14606	1087	38	1	373	1	SLC25A5	23	118603879	Missense_Mutation	SNP	G	TCGA-FG-A713-01A-11D-A32B-08	41659569	118603879	36666681	39	46107											
CT47B1	643311	broad.mit.edu	37	chrX	120008870	120008870	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatctgcggcctcctccgCgggctccctggccatctcgg	2	9	11	19	4	3	0	1	0	2	0	7	0	6	0	5	4	1	1	5	4	0	0			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:120008870C>T	ENST00000371311.3	-	1	909	c.655G>A	c.(655-657)Gcg>Acg	p.A219T		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	219										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						GCCTCCTCCGCGGGCTCCCTG	0.692													T	120008870	C	T	120008870	3	4	507	1	0	0	0	0	1	0	0	0	4022	768	27	1	252	1	CT47B1	23	120008870	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	1404991	120008870	35261690	40	46108											
FLNA	2316	broad.mit.edu	37	chrX	153583249	153583249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaagcgcacacagatgaCgtatttgcccggctgggggg	10	6	14	11	3	0	2	0	1	0	1	0	2	0	2	2	4	2	3	2	4	2	2			TCGA-FG-A713-01A-11D-A32B-08	TCGA-FG-A713-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ed89386f-0b6c-4b6b-bbac-c869aa72a025	bc2fa6a0-87a9-4052-a9ee-9a1d54413f32	g.chrX:153583249C>T	ENST00000422373.1	-	30	5385	c.5137G>A	c.(5137-5139)Gtc>Atc	p.V1713I	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000360319.4_Missense_Mutation_p.V1713I|FLNA_ENST00000344736.4_Missense_Mutation_p.V1713I|FLNA_ENST00000369850.3_Missense_Mutation_p.V1721I	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1721					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACACAGATGACGTATTTGCCC	0.622													T	153583249	C	T	153583249	3	4	507	1	0	0	0	0	1	0	0	0	5982	536	19	1	2854	1	FLNA	23	153583249	Missense_Mutation	SNP	C	TCGA-FG-A713-01A-11D-A32B-08	33574379	153583249	1687311	41	46109											
CDK11B	984	broad.mit.edu	37	chr1	1573136	1573136	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgctcactctaacggtgacGatgttgggatgctgggcctt	7	12	13	9	2	2	1	1	1	1	0	2	3	2	2	1	3	3	3	1	3	1	3	rs17434073		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:1573136G>A	ENST00000407249.3	-	14	1460	c.1461C>T	c.(1459-1461)atC>atT	p.I487I	CDK11B_ENST00000317673.7_Silent_p.I485I|CDK11B_ENST00000341832.6_Silent_p.I440I|CDK11B_ENST00000340677.5_Silent_p.I474I			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	497	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						TAACGGTGACGATGTTGGGAT	0.617													A	1573136	G	A	1573136	2	1	508	1	0	0	0	0	0	0	0	1	3157	1048	37	1		1	CDK11B	1	1573136	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		1573136	247677485	1	46110											
UBR4	23352	broad.mit.edu	37	chr1	19439194	19439194	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttctgtgacagccgaggcGcagccatagcacttggtgga	8	9	14	10	2	1	1	0	1	1	0	1	3	1	2	2	3	3	3	2	3	1	3	rs148095267	byFrequency	TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:19439194G>A	ENST00000375267.2	-	78	11628	c.11625C>T	c.(11623-11625)tgC>tgT	p.C3875C	UBR4_ENST00000375217.2_Silent_p.C3868C|UBR4_ENST00000375226.2_Silent_p.C3851C|UBR4_ENST00000375254.3_Silent_p.C3875C|UBR4_ENST00000375218.3_3'UTR			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	3875					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		CAGCCGAGGCGCAGCCATAGC	0.612													A	19439194	G	A	19439194	2	1	508	1	0	0	0	0	0	0	0	1	17006	1079	38	1		1	UBR4	1	19439194	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	17866058	19439194	229811427	2	46111											
PDZK1	5174	broad.mit.edu	37	chr1	145761247	145761247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctctgtcaaggaggctccaGctcctactcccacttctctg	6	11	8	16	0	3	0	1	0	2	0	7	1	6	1	3	2	2	3	3	2	2	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:145761247G>A	ENST00000344770.2	+	7	1133	c.1060G>A	c.(1060-1062)Gct>Act	p.A354T	PDZK1_ENST00000451928.2_Missense_Mutation_p.A243T|PDZK1_ENST00000417171.1_Missense_Mutation_p.A354T	NM_002614.4	NP_002605.2	Q5T2W1	NHRF3_HUMAN	PDZ domain containing 1	354					carnitine transport|cell proliferation|drug transport|positive regulation of ion transmembrane transport	brush border membrane|cytoplasm	PDZ domain binding|transporter activity	p.A354T(1)		NS(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	7	all_hematologic(18;0.00473)|Acute lymphoblastic leukemia(18;0.0786)		KIRC - Kidney renal clear cell carcinoma(6;0.0764)|Kidney(552;0.118)|Colorectal(543;0.229)			GGAGGCTCCAGCTCCTACTCC	0.428													A	145761247	G	A	145761247	3	1	508	1	0	0	0	0	1	0	0	0	11783	971	34	2	1082	2	PDZK1	1	145761247	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	126322053	145761247	103489374	3	46112											
CENPF	1063	broad.mit.edu	37	chr1	214818125	214818125	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgagcctccaggggaagatAaaacccagggctcttcagaa	14	6	11	10	0	2	3	1	1	1	2	3	4	3	4	3	3	2	1	3	3	4	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:214818125A>T	ENST00000366955.3	+	13	5380	c.5212A>T	c.(5212-5214)Aaa>Taa	p.K1738*		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	1834					cell differentiation|cell division|cell proliferation|DNA replication|G2 phase of mitotic cell cycle|kinetochore assembly|metaphase plate congression|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|muscle organ development|negative regulation of transcription, DNA-dependent|protein transport|regulation of G2/M transition of mitotic cell cycle|regulation of striated muscle tissue development|response to drug	condensed chromosome outer kinetochore|cytosol|midbody|nuclear envelope|nuclear matrix|perinuclear region of cytoplasm|spindle pole	chromatin binding|dynein binding|protein C-terminus binding|protein homodimerization activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		AGGGGAAGATAAAACCCAGGG	0.448													T	214818125	A	T	214818125	4	4	508	1	0	0	0	0	0	1	0	0	3261	363	13	5	5258	5	CENPF	1	214818125	Nonsense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	69056878	214818125	34432496	4	46113											
DISP1	84976	broad.mit.edu	37	chr1	223179138	223179138	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaagtcctatttaatcatTtaatgggggaggctggttgt	11	14	11	5	0	1	0	1	0	0	0	2	1	2	1	1	4	0	2	1	4	5	6			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr1:223179138T>G	ENST00000284476.6	+	8	4563	c.4399T>G	c.(4399-4401)Tta>Gta	p.L1467V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1467					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ATTTAATCATTTAATGGGGGA	0.433													G	223179138	T	G	223179138	3	3	508	1	0	0	0	0	1	0	0	0	4578	1838	64	5	4425	5	DISP1	1	223179138	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	8361013	223179138	26071483	5	46114											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	508	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		209113112	34086261	6	46115											
CTBP1	1487	broad.mit.edu	37	chr4	1232006	1232008	+	In_Frame_Del	DEL	AGA	AGA	-																															ctgcgtggactgcgcgtcgcAgaaggccacagtggccacgt																										TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:1232006_1232008delAGA	ENST00000510568.1	-	2	716_718	c.125_127delTCT	c.(124-129)ttctgc>tgc	p.F42del	CTBP1_ENST00000290921.6_In_Frame_Del_p.F53del|CTBP1_ENST00000382952.3_In_Frame_Del_p.F42del|CTBP1_ENST00000515690.1_5'UTR			Q13363	CTBP1_HUMAN	C-terminal binding protein 1	53	Interaction with GLIS2 1 (By similarity).				interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		TGCGCGTCGCAGAAGGCCACAGT	0.665													-	1232008	AGA	-	1232006	7	5	508	1	0	1	0	1	0	0	0	0	4030	188	7	0	1194	0	CTBP1	4	1232006	In_Frame_Del	DEL	AGA	TCGA-FG-A87N-01A-11D-A36O-08		1232006	189922270	7	46116											
ADAMTS3	9508	broad.mit.edu	37	chr4	73280660	73280660	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggttcaatgaaatacTcttcattatcactttttatc	12	16	4	9	0	4	1	3	1	1	0	5	1	4	1	1	1	1	1	1	1	6	7			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:73280660T>A	ENST00000286657.4	-	4	569	c.533A>T	c.(532-534)gAg>gTg	p.E178V		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	178					collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AATGAAATACTCTTCATTATC	0.353													A	73280660	T	A	73280660	3	1	508	1	0	0	0	0	1	0	0	0	267	1551	54	5	3160	5	ADAMTS3	4	73280660	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	72048654	73280660	117873616	8	46117											
KLHL8	57563	broad.mit.edu	37	chr4	88106791	88106791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaagtgagccgtgaagaaTagacaaactttaccaagtct	16	9	8	8	1	2	4	1	2	1	2	2	4	2	4	2	0	3	0	2	0	7	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:88106791T>C	ENST00000273963.5	-	3	718	c.377A>G	c.(376-378)tAt>tGt	p.Y126C	KLHL8_ENST00000512111.1_Missense_Mutation_p.Y126C|KLHL8_ENST00000545252.1_Intron|KLHL8_ENST00000425278.2_Intron|KLHL8_ENST00000498875.2_Intron	NM_020803.3	NP_065854.3	Q9P2G9	KLHL8_HUMAN	kelch-like family member 8	126	BTB.									breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	17		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.000603)		CCGTGAAGAATAGACAAACTT	0.423													C	88106791	T	C	88106791	3	2	508	1	0	0	0	0	1	0	0	0	8453	1406	49	3	1517	3	KLHL8	4	88106791	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	14826131	88106791	103047485	9	46118											
TBC1D9	23158	broad.mit.edu	37	chr4	141677078	141677080	+	In_Frame_Del	DEL	CCG	CCG	-																															cacggtccttacccgccagtCcgccgccgccgcctccatcg																										TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr4:141677078_141677080delCCG	ENST00000442267.2	-	1	194_196	c.120_122delCGG	c.(118-123)ggcgga>gga	p.40_41GG>G		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	40						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				ACCCGCCAGTCCGCCGCCGCCGC	0.739													-	141677080	CCG	-	141677078	7	5	508	1	0	1	0	1	0	0	0	0	15727	855	30	0	3762	0	TBC1D9	4	141677078	In_Frame_Del	DEL	CCG	TCGA-FG-A87N-01A-11D-A36O-08	53570287	141677078	49477198	10	46119											
ZNF292	23036	broad.mit.edu	37	chr6	87865403	87865404	+	Frame_Shift_Ins	INS	-	-	T																															gggcgagcggctccaggagcINStggagctacagctgcgggag																										TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr6:87865403_87865404insT	ENST00000369577.3	+	1	137_138	c.94_95insT	c.(94-96)ctgfs	p.L32fs	ZNF292_ENST00000392985.3_Frame_Shift_Ins_p.L32fs|ZNF292_ENST00000369578.2_3'UTR|ZNF292_ENST00000339907.4_Frame_Shift_Ins_p.L32fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	32					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GCTCCAGGAGCTGGAGCTACAG	0.703													T	87865404	-	T	87865403	7	5	508	1	0	1	1	0	0	0	0	0	17927	796	28	0	96	0	ZNF292	6	87865403	Frame_Shift_Ins	INS	-	TCGA-FG-A87N-01A-11D-A36O-08		87865403	83249664	11	46120											
PMPCB	9512	broad.mit.edu	37	chr7	102952301	102952301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtaggcaaatgttatgctaTaatagaaggattcccatccc	13	11	9	8	0	0	1	0	0	0	1	2	2	2	2	2	3	1	4	2	3	7	6			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr7:102952301T>C	ENST00000249269.4	+	11	1325	c.1287T>C	c.(1285-1287)taT>taC	p.Y429Y	PMPCB_ENST00000428154.1_Silent_p.Y429Y|PMPCB_ENST00000420236.2_Silent_p.Y324Y	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	429					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TGTTATGCTATAATAGAAGGA	0.343													C	102952301	T	C	102952301	2	2	508	1	0	0	0	0	0	0	0	1	12218	1413	49	3		3	PMPCB	7	102952301	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08		102952301	56186362	12	46121											
UTP23	84294	broad.mit.edu	37	chr8	117778967	117778967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaggcggcgctgcggggccGcatccagctgcgggagcagc	5	4	18	14	5	1	0	1	0	0	0	2	1	2	1	2	5	5	4	2	5	0	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:117778967G>A	ENST00000309822.2	+	1	226	c.125G>A	c.(124-126)cGc>cAc	p.R42H	UTP23_ENST00000357148.3_Missense_Mutation_p.R42H|UTP23_ENST00000517820.1_Missense_Mutation_p.R42H	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	42					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CTGCGGGGCCGCATCCAGCTG	0.677											OREG0018934	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	117778967	G	A	117778967	3	1	508	1	0	0	0	0	1	0	0	0	17202	1087	38	1	127	1	UTP23	8	117778967	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		117778967	28585055	13	46122											
CPSF1	29894	broad.mit.edu	37	chr8	145626338	145626338	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcacccacgagcccctcGtgctcctcagccaggctctc	5	7	7	22	2	3	0	2	0	1	0	6	1	4	0	6	1	3	2	6	1	0	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr8:145626338G>A	ENST00000349769.3	-	6	613	c.519C>T	c.(517-519)caC>caT	p.H173H		NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	173					mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	mRNA 3'-UTR binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			CGAGCCCCTCGTGCTCCTCAG	0.721													A	145626338	G	A	145626338	2	1	508	1	0	0	0	0	0	0	0	1	3855	1136	40	1		1	CPSF1	8	145626338	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	27847371	145626338	737684	14	46123											
VAV2	7410	broad.mit.edu	37	chr9	136648690	136648691	+	Frame_Shift_Ins	INS	-	-	TG																															gacgccacacttggtacacaINStgtatccctggtagaaggtg																										TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr9:136648690_136648691insTG	ENST00000371851.1	-	17	1952_1953	c.1627_1628insCA	c.(1627-1629)atgfs	p.M543fs	VAV2_ENST00000406606.3_Frame_Shift_Ins_p.M543fs|VAV2_ENST00000371850.3_Frame_Shift_Ins_p.M553fs			P52735	VAV2_HUMAN	vav 2 guanine nucleotide exchange factor	553					angiogenesis|apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	metal ion binding|Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(3)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(1)	35				OV - Ovarian serous cystadenocarcinoma(145;3.9e-07)|Epithelial(140;2.07e-06)|all cancers(34;9.39e-06)		CTTGGTACACATGTATCCCTGG	0.629													TG	136648691	-	TG	136648690	7	5	508	1	0	1	1	0	0	0	0	0	17234	217	8	0	1026	0	VAV2	9	136648690	Frame_Shift_Ins	INS	-	TCGA-FG-A87N-01A-11D-A36O-08		136648690	4564741	15	46124											
BEND7	222389	broad.mit.edu	37	chr10	13534788	13534788	+	Frame_Shift_Del	DEL	T	T	-																															tccacagtctttgggggcacTtttttctttttatttctctt																										TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:13534788delT	ENST00000341083.3	-	5	800	c.504delA	c.(502-504)aaafs	p.K168fs	BEND7_ENST00000396898.2_Frame_Shift_Del_p.K233fs|BEND7_ENST00000396900.2_Frame_Shift_Del_p.K220fs|BEND7_ENST00000378605.3_Frame_Shift_Del_p.K181fs	NM_152751.2	NP_689964.2	Q8N7W2	BEND7_HUMAN	BEN domain containing 7	220							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TTGGGGGCACTTTTTTCTTTT	0.458													-	13534788	T	-	13534788	7	5	508	1	0	1	0	1	0	0	0	0	1408	1606	56	0	934	0	BEND7	10	13534788	Frame_Shift_Del	DEL	T	TCGA-FG-A87N-01A-11D-A36O-08		13534788	121999959	16	46125											
NEBL	10529	broad.mit.edu	37	chr10	21098829	21098829	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcgccaaactttgaggtcTtttgccaaaaggaagaaatc	13	10	10	8	1	1	2	0	1	1	1	2	3	1	3	2	2	3	0	2	2	5	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:21098829T>C	ENST00000377122.4	-	25	2915		c.e25-2		NEBL_ENST00000377159.4_Intron|NEBL_ENST00000417816.2_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette						regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTTTGAGGTCTTTTGCCAAAA	0.393													C	21098829	T	C	21098829	5	2	508	1	0	0	0	0	0	0	1	0	10379	1623	56	3	543	3	NEBL	10	21098829	Splice_Site	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	7564041	21098829	114435918	17	46126											
ZNF485	220992	broad.mit.edu	37	chr10	44112341	44112341	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagctttcagggataattcaActgtgttggaacatcagaaa	14	11	10	6	0	3	1	3	0	0	1	3	4	3	3	0	2	3	2	0	2	4	4			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:44112341A>G	ENST00000361807.3	+	5	1044	c.850A>G	c.(850-852)Act>Gct	p.T284A	ZNF485_ENST00000374435.3_Missense_Mutation_p.T284A|ZNF485_ENST00000374437.2_Missense_Mutation_p.T193A	NM_145312.3	NP_660355.2	Q8NCK3	ZN485_HUMAN	zinc finger protein 485	284					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						GGATAATTCAACTGTGTTGGA	0.403													G	44112341	A	G	44112341	3	3	508	1	0	0	0	0	1	0	0	0	18039	43	2	3	864	3	ZNF485	10	44112341	Missense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	23013512	44112341	91422406	18	46127											
TDRD1	56165	broad.mit.edu	37	chr10	115964540	115964540	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaattggagcagtgattgTatcaaagctactaaaccact	14	10	10	7	0	1	1	1	1	0	0	1	3	1	3	1	2	4	3	1	2	6	5			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr10:115964540T>C	ENST00000251864.2	+	10	1338	c.1185T>C	c.(1183-1185)tgT>tgC	p.C395C	TDRD1_ENST00000369280.1_Silent_p.C395C|TDRD1_ENST00000369282.1_Silent_p.C395C|TDRD1_ENST00000369281.2_Silent_p.C395C|TDRD1_ENST00000422662.1_Silent_p.C56C	NM_198795.1	NP_942090.1	Q9BXT4	TDRD1_HUMAN	tudor domain containing 1	395					DNA methylation involved in gamete generation|gene silencing by RNA|germ cell development|meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	nucleic acid binding|protein binding|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(5)	48		Colorectal(252;0.172)|Breast(234;0.188)		Epithelial(162;0.0343)|all cancers(201;0.0754)		GCAGTGATTGTATCAAAGCTA	0.398													C	115964540	T	C	115964540	2	2	508	1	0	0	0	0	0	0	0	1	15830	1644	57	3		3	TDRD1	10	115964540	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	71852199	115964540	19570207	19	46128											
FAM160A2	84067	broad.mit.edu	37	chr11	6233023	6233023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggctgaaggaccaattgtgCcgcctgccgggccctggttg	6	8	15	12	2	0	1	0	1	0	0	0	2	0	2	5	4	2	2	5	4	2	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr11:6233023C>T	ENST00000265978.4	-	12	3032	c.2674G>A	c.(2674-2676)Gca>Aca	p.A892T	FAM160A2_ENST00000529360.1_5'UTR|FAM160A2_ENST00000449352.2_Missense_Mutation_p.A878T	NM_001098794.1|NM_032127.3	NP_001092264.1|NP_115503.2	Q8N612	F16A2_HUMAN	family with sequence similarity 160, member A2	878					early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|protein transport	FHF complex	protein binding	p.A892T(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(7)|liver(1)|lung(14)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ACCAATTGTGCCGCCTGCCGG	0.627													T	6233023	C	T	6233023	3	4	508	1	0	0	0	0	1	0	0	0	5514	739	26	2	290	2	FAM160A2	11	6233023	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		6233023	128773493	20	46129											
FKBP4	2288	broad.mit.edu	37	chr12	2909744	2909744	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccattgaaagctgtaacaagGtgaggccccctcagaggtca	12	7	11	11	0	2	3	2	2	0	1	2	3	2	3	3	3	2	2	3	3	3	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:2909744G>A	ENST00000001008.4	+	8	1219		c.e8+1		RP4-816N1.6_ENST00000547834.1_RNA|RP4-816N1.7_ENST00000547042.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa						negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTGTAACAAGGTGAGGCCCCC	0.547													A	2909744	G	A	2909744	5	1	508	1	0	0	0	0	0	0	1	0	5959	1275	44	2	1063	2	FKBP4	12	2909744	Splice_Site	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		2909744	130942151	21	46130											
HELB	92797	broad.mit.edu	37	chr12	66703572	66703572	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctccagctgatgacTgatttggagaagaatgcatt	10	14	9	8	0	2	5	0	3	2	2	4	6	2	5	1	1	2	2	1	1	2	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr12:66703572T>A	ENST00000247815.4	+	4	923	c.864T>A	c.(862-864)acT>acA	p.T288T		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	288					DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		AGCTGATGACTGATTTGGAGA	0.383													A	66703572	T	A	66703572	2	1	508	1	0	0	0	0	0	0	0	1	7100	1567	55	5		5	HELB	12	66703572	Silent	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08	63793828	66703572	67148323	22	46131											
LRCH1	23143	broad.mit.edu	37	chr13	47266679	47266679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatctttttagccttctgaCgaagacactgttagcctcaa	10	14	7	10	1	3	2	1	1	2	1	3	3	3	2	2	0	2	2	2	0	5	6			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr13:47266679C>T	ENST00000311191.6	+	8	1252	c.1023C>T	c.(1021-1023)gaC>gaT	p.D341D	LRCH1_ENST00000389798.3_Silent_p.D341D|LRCH1_ENST00000389797.3_Silent_p.D341D	NM_001164213.1	NP_001157685	Q9Y2L9	LRCH1_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 1	341										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(13;5.61e-07)|Lung NSC(96;0.000117)|Breast(56;0.000141)|Prostate(109;0.0029)|Lung SC(185;0.0367)|Myeloproliferative disorder(33;0.0505)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000123)		AGCCTTCTGACGAAGACACTG	0.413													T	47266679	C	T	47266679	2	4	508	1	0	0	0	0	0	0	0	1	9002	535	19	1		1	LRCH1	13	47266679	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		47266679	67903199	23	46132											
SCFD1	23256	broad.mit.edu	37	chr14	31091567	31091569	+	In_Frame_Del	DEL	CAG	CAG	-																															ggcggcggcggcggcagcgaCagcagcagcagcagccagta																										TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:31091567_31091569delCAG	ENST00000458591.2	+	1	250_252	c.23_25delCAG	c.(22-27)acagca>aca	p.A13del	SCFD1_ENST00000541123.1_5'UTR|SCFD1_ENST00000544052.2_5'UTR|SCFD1_ENST00000396629.2_5'UTR|SCFD1_ENST00000421551.3_5'UTR	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	13	Poly-Ala.				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		gcggcagcgacagcagcagcagc	0.645													-	31091569	CAG	-	31091567	7	5	508	1	0	1	0	1	0	0	0	0	13981	478	17	0	25	0	SCFD1	14	31091567	In_Frame_Del	DEL	CAG	TCGA-FG-A87N-01A-11D-A36O-08		31091567	76257973	24	46133											
FRMD6	122786	broad.mit.edu	37	chr14	52188776	52188776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaggacatgctcatgtcGcggaagctgaatggacactc	12	7	12	10	2	1	2	1	1	0	1	3	5	1	5	0	3	2	2	0	3	2	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:52188776G>A	ENST00000395718.2	+	12	1731	c.1446G>A	c.(1444-1446)tcG>tcA	p.S482S	FRMD6_ENST00000344768.5_Silent_p.S490S|FRMD6_ENST00000554167.1_Silent_p.S413S|FRMD6_ENST00000553556.1_Silent_p.S132S|FRMD6_ENST00000356218.4_Silent_p.S482S	NM_001267046.1|NM_152330.3	NP_001253975.1|NP_689543.1	Q96NE9	FRMD6_HUMAN	FERM domain containing 6	490						cytoskeleton|mitochondrion|plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(7)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_epithelial(31;0.0163)|Breast(41;0.089)					TGCTCATGTCGCGGAAGCTGA	0.483													A	52188776	G	A	52188776	2	1	508	1	0	0	0	0	0	0	0	1	6106	1074	38	1		1	FRMD6	14	52188776	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	21097209	52188776	55160764	25	46134											
TTLL5	23093	broad.mit.edu	37	chr14	76259309	76259309	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaatagccaaaacacaaaaaGagggagaagatgcttcttta	19	7	9	6	0	1	3	0	0	1	3	1	5	1	3	1	1	3	1	1	1	8	4			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr14:76259309G>A	ENST00000298832.9	+	27	3242	c.3037G>A	c.(3037-3039)Gag>Aag	p.E1013K	TTLL5_ENST00000557636.1_Missense_Mutation_p.E1028K|TTLL5_ENST00000556893.1_Missense_Mutation_p.E564K|TTLL5_ENST00000554510.1_Missense_Mutation_p.E522K	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	1013					protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		AACACAAAAAGAGGGAGAAGA	0.413													A	76259309	G	A	76259309	3	1	508	1	0	0	0	0	1	0	0	0	16832	943	33	2	3139	2	TTLL5	14	76259309	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	24070533	76259309	31090231	26	46135											
AAGAB	79719	broad.mit.edu	37	chr15	67529108	67529108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagggataaaatctcaCagcatcattggaagtcactt	13	10	9	9	0	3	0	3	0	1	0	5	2	4	2	1	3	1	1	1	3	3	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr15:67529108C>T	ENST00000261880.5	-	2	228	c.124G>A	c.(124-126)Gtg>Atg	p.V42M	AAGAB_ENST00000542650.1_De_novo_Start_InFrame|AAGAB_ENST00000561452.1_De_novo_Start_InFrame	NM_001271885.1|NM_001271886.1|NM_024666.3	NP_001258814.1|NP_001258815.1|NP_078942.3	Q6PD74	AAGAB_HUMAN	alpha- and gamma-adaptin binding protein	42					protein transport	cytoplasm				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	9						TAAAATCTCACAGCATCATTG	0.343													T	67529108	C	T	67529108	3	4	508	1	0	0	0	0	1	0	0	0	15	478	17	2	859	2	AAGAB	15	67529108	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		67529108	35002284	27	46136											
CDR2	1039	broad.mit.edu	37	chr16	22361098	22361098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagttcccttgctgtgaCgtctaattgttcataaacct	8	16	6	11	1	2	1	1	1	1	0	4	1	4	1	3	0	2	3	3	0	3	7			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:22361098C>T	ENST00000268383.2	-	3	572	c.265G>A	c.(265-267)Gtc>Atc	p.V89I		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	89						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		CTTGCTGTGACGTCTAATTGT	0.423													T	22361098	C	T	22361098	3	4	508	1	0	0	0	0	1	0	0	0	3202	536	19	1	1111	1	CDR2	16	22361098	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		22361098	67993655	28	46137											
MT4	84560	broad.mit.edu	37	chr16	56602775	56602775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtccctgctgccccccGggctgtgccaaatgtgcccg	3	9	12	17	2	0	0	0	0	0	0	1	0	1	0	6	1	5	3	6	1	1	0			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:56602775G>A	ENST00000219162.3	+	3	200	c.120G>A	c.(118-120)ccG>ccA	p.P40P		NM_032935.2	NP_116324	P47944	MT4_HUMAN	metallothionein 4	40						cytoplasm	copper ion binding|zinc ion binding			ovary(1)|upper_aerodigestive_tract(1)	2						GCTGCCCCCCGGGCTGTGCCA	0.607													A	56602775	G	A	56602775	2	1	508	1	0	0	0	0	0	0	0	1	9983	1103	39	1		1	MT4	16	56602775	Silent	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	34241677	56602775	33751978	29	46138											
KIFC3	3801	broad.mit.edu	37	chr16	57798074	57798074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctccatcgtgtacgtcttgCcggcgcccgtctggccgtac	3	10	11	17	6	2	0	0	0	2	0	4	0	3	0	5	2	3	2	5	2	2	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr16:57798074C>T	ENST00000379655.4	-	12	1855	c.1598G>A	c.(1597-1599)gGc>gAc	p.G533D	KIFC3_ENST00000540079.2_Missense_Mutation_p.G431D|KIFC3_ENST00000445690.2_Missense_Mutation_p.G533D|KIFC3_ENST00000541240.1_Missense_Mutation_p.G555D|KIFC3_ENST00000543930.1_Missense_Mutation_p.G391D|KIFC3_ENST00000465878.2_Missense_Mutation_p.G394D|KIFC3_ENST00000421376.2_Missense_Mutation_p.G394D|KIFC3_ENST00000562903.1_Missense_Mutation_p.G394D|KIFC3_ENST00000539578.1_Missense_Mutation_p.G475D	NM_005550.3	NP_005541.3	Q9BVG8	KIFC3_HUMAN	kinesin family member C3	533	Kinesin-motor.				epithelial cell-cell adhesion|microtubule-based movement|visual perception|zonula adherens maintenance	centrosome|cytoplasmic vesicle membrane|kinesin complex|microtubule|zonula adherens	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(3)|endometrium(4)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23		all_neural(199;0.224)				GTACGTCTTGCCGGCGCCCGT	0.597													T	57798074	C	T	57798074	3	4	508	1	0	0	0	0	1	0	0	0	8372	739	26	2	944	2	KIFC3	16	57798074	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	1195299	57798074	32556679	30	46139											
PRPF8	10594	broad.mit.edu	37	chr17	1582120	1582120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaccaccagcttagtcaaaCgcagaacttcccgacacagg	13	5	7	16	2	1	1	1	0	0	1	2	2	2	1	4	1	3	2	4	1	3	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:1582120C>T	ENST00000572621.1	-	11	1920	c.1655G>A	c.(1654-1656)cGt>cAt	p.R552H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R552H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	552						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CTTAGTCAAACGCAGAACTTC	0.493													T	1582120	C	T	1582120	3	4	508	1	0	0	0	0	1	0	0	0	12661	536	19	1	5480	1	PRPF8	17	1582120	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		1582120	79613090	31	46140											
NCOR1	9611	broad.mit.edu	37	chr17	15971338	15971338	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggctcacgacagggtccacCccaggcactggagacttcgc	8	6	12	15	2	1	1	1	0	0	1	3	3	2	1	3	4	0	2	3	4	0	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:15971338C>T	ENST00000268712.3	-	32	4868	c.4611G>A	c.(4609-4611)ggG>ggA	p.G1537G	NCOR1_ENST00000395857.3_Silent_p.G121G|NCOR1_ENST00000395851.1_Silent_p.G1553G	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1537	Interaction with C1D (By similarity).|Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		CAGGGTCCACCCCAGGCACTG	0.542													T	15971338	C	T	15971338	2	4	508	1	0	0	0	0	0	0	0	1	10311	610	22	2		2	NCOR1	17	15971338	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	14389218	15971338	65223872	32	46141											
NF1	4763	broad.mit.edu	37	chr17	29654516	29654516	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccgtcaccaccactttccaGgttggttctactgctgtcca	6	12	7	16	1	2	0	1	0	1	0	4	0	4	0	5	2	2	3	5	2	1	4			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:29654516G>C	ENST00000358273.4	+	38	5651		c.e38-1		NF1_ENST00000356175.3_Splice_Site|NF1_ENST00000581113.2_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CCACTTTCCAGGTTGGTTCTA	0.398			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29654516	G	C	29654516	5	2	508	1	0	0	0	0	0	0	1	0	10432	1014	35	4	5479	4	NF1	17	29654516	Splice_Site	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08	13683178	29654516	51540694	33	46142											
SAP30BP	29115	broad.mit.edu	37	chr17	73695883	73695883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccttttctgaaagagttCggaacatgtcgcctgatgaa	10	12	9	10	2	1	4	0	3	1	1	4	5	2	5	3	1	1	1	3	1	3	3			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr17:73695883C>T	ENST00000584667.1	+	5	585	c.328C>T	c.(328-330)Cgg>Tgg	p.R110W	SAP30BP_ENST00000355423.3_Missense_Mutation_p.R94W|SAP30BP_ENST00000579864.1_3'UTR	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	110					apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			TGAAAGAGTTCGGAACATGTC	0.453													T	73695883	C	T	73695883	3	4	508	1	0	0	0	0	1	0	0	0	13926	875	31	1	346	1	SAP30BP	17	73695883	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	44041367	73695883	7499327	34	46143											
SYT4	6860	broad.mit.edu	37	chr18	40850545	40850545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcattgggggtgcattTcttcacatgagtcttcttct	6	16	9	10	0	5	1	1	1	4	0	5	1	5	1	0	2	2	2	0	2	0	5			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr18:40850545T>C	ENST00000255224.3	-	4	1407	c.1039A>G	c.(1039-1041)Aaa>Gaa	p.K347E	SYT4_ENST00000586678.1_Intron|SYT4_ENST00000590752.1_Missense_Mutation_p.K329E	NM_020783.3	NP_065834.1	Q9H2B2	SYT4_HUMAN	synaptotagmin IV	347	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44						GGGGTGCATTTCTTCACATGA	0.408													C	40850545	T	C	40850545	3	2	508	1	0	0	0	0	1	0	0	0	15573	1792	62	3	242	3	SYT4	18	40850545	Missense_Mutation	SNP	T	TCGA-FG-A87N-01A-11D-A36O-08		40850545	37226703	35	46144											
ZNF560	147741	broad.mit.edu	37	chr19	9578508	9578508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacatttataaggttttatcCcaatgtgggtttgcatgtga	10	17	9	5	0	0	1	0	1	0	0	1	1	1	1	1	2	2	3	1	2	5	7			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:9578508C>T	ENST00000301480.4	-	10	1328	c.1115G>A	c.(1114-1116)gGg>gAg	p.G372E		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						AGGTTTTATCCCAATGTGGGT	0.403													T	9578508	C	T	9578508	3	4	508	1	0	0	0	0	1	0	0	0	18092	623	22	2	1261	2	ZNF560	19	9578508	Missense_Mutation	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08		9578508	49550475	36	46145											
BLVRB	645	broad.mit.edu	37	chr19	40953796	40953796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccagatggggacagagtgCtactggtactggtgggaggg	8	8	18	7	0	0	2	0	0	0	2	1	4	1	4	1	6	3	2	1	6	2	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:40953796C>T	ENST00000263368.4	-	5	772	c.621G>A	c.(619-621)taG>taA	p.*207*	BLVRB_ENST00000595483.1_Silent_p.*164*	NM_000713.2	NP_000704.1	P30043	BLVRB_HUMAN	biliverdin reductase B (flavin reductase (NADPH))	0					heme catabolic process	cytosol	biliverdin reductase activity|binding|flavin reductase activity			large_intestine(3)|lung(3)	6			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)		NADH(DB00157)|Riboflavin(DB00140)	GGACAGAGTGCTACTGGTACT	0.537													T	40953796	C	T	40953796	2	4	508	1	0	0	0	0	0	0	0	1	1458	808	28	2		2	BLVRB	19	40953796	Silent	SNP	C	TCGA-FG-A87N-01A-11D-A36O-08	31375288	40953796	18175187	37	46146											
ZNF446	55663	broad.mit.edu	37	chr19	58991096	58991096	+	Splice_Site	DEL	T	T	-																															ggcacagtggtctccctgggTgaggaccagccagccccacc																										TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr19:58991096delT	ENST00000596341.1	+	5	2932		c.e5+2		ZNF446_ENST00000335841.4_Intron|ZNF446_ENST00000594369.1_Splice_Site			Q9NWS9	ZN446_HUMAN	zinc finger protein 446						viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TCTCCCTGGGTGAGGACCAGC	0.677													-	58991096	T	-	58991096	8	5	508	1	0	1	0	1	0	0	1	0	18020	1710	59	0	728	0	ZNF446	19	58991096	Splice_Site	DEL	T	TCGA-FG-A87N-01A-11D-A36O-08	18037300	58991096	137887	38	46147											
OSBPL2	9885	broad.mit.edu	37	chr20	60854344	60854344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccaagctcaagttctgggGcaaaagcgtggaggcggagc	10	5	15	11	2	2	0	1	0	1	0	2	2	2	2	2	5	3	3	2	5	4	1			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chr20:60854344G>A	ENST00000313733.3	+	7	825	c.623G>A	c.(622-624)gGc>gAc	p.G208D	OSBPL2_ENST00000439951.2_Missense_Mutation_p.G116D|OSBPL2_ENST00000358053.2_Missense_Mutation_p.G196D	NM_144498.1	NP_653081.1	Q9H1P3	OSBL2_HUMAN	oxysterol binding protein-like 2	208					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;1.33e-06)			AAGTTCTGGGGCAAAAGCGTG	0.587													A	60854344	G	A	60854344	3	1	508	1	0	0	0	0	1	0	0	0	11354	1203	42	2	645	2	OSBPL2	20	60854344	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		60854344	2171176	39	46148											
ACSL4	2182	broad.mit.edu	37	chrX	108902736	108902736	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactgatcacataggactGatcactaaaaaaacagaaaa	23	6	5	7	0	2	3	2	2	0	1	2	4	2	4	0	1	2	0	0	1	9	2			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:108902736G>T	ENST00000340800.2	-	16	2329	c.1825C>A	c.(1825-1827)Cag>Aag	p.Q609K	ACSL4_ENST00000348502.6_Missense_Mutation_p.Q568K|ACSL4_ENST00000469796.2_Missense_Mutation_p.Q609K	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	609					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	ACATAGGACTGATCACTAAAA	0.323													T	108902736	G	T	108902736	3	4	508	1	0	0	0	0	1	0	0	0	179	1299	45	4	318	4	ACSL4	23	108902736	Missense_Mutation	SNP	G	TCGA-FG-A87N-01A-11D-A36O-08		108902736	46367824	40	46149											
CUL4B	8450	broad.mit.edu	37	chrX	119673128	119673128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtaaatacttaccatagAtaaatctaaatatgatcata	19	14	3	5	0	2	2	1	1	1	1	2	2	2	2	1	0	2	1	1	0	12	9			TCGA-FG-A87N-01A-11D-A36O-08	TCGA-FG-A87N-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	031a2d19-942c-4c6d-afbe-b6135c7ea704	d87821a1-0286-4e2e-ab6a-5b94ddecf27e	g.chrX:119673128A>G	ENST00000371322.5	-	12	1797	c.1736T>C	c.(1735-1737)aTc>aCc	p.I579T	CUL4B_ENST00000404115.3_Missense_Mutation_p.I597T|CUL4B_ENST00000336592.6_Missense_Mutation_p.I584T	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	597					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTACCATAGATAAATCTAAA	0.289													G	119673128	A	G	119673128	3	3	508	1	0	0	0	0	1	0	0	0	4091	333	12	3	987	3	CUL4B	23	119673128	Missense_Mutation	SNP	A	TCGA-FG-A87N-01A-11D-A36O-08	10770392	119673128	35597432	41	46150											
SLC2A1	6513	broad.mit.edu	37	chr1	43395570	43395570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcccggttctcctcgttgCggttgatgagcaggaagcgg	5	10	16	10	4	1	2	0	2	1	0	3	3	1	3	2	5	3	4	2	5	1	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43395570C>T	ENST00000426263.3	-	5	831	c.653G>A	c.(652-654)cGc>cAc	p.R218H	SLC2A1_ENST00000415851.2_Intron|SLC2A1_ENST00000475162.1_Intron	NM_006516.2	NP_006507.2	P11166	GTR1_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 1	218					carbohydrate metabolic process|energy reserve metabolic process|regulation of insulin secretion|water-soluble vitamin metabolic process	integral to membrane|melanosome|membrane fraction|midbody	D-glucose transmembrane transporter activity|dehydroascorbic acid transporter activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|pancreas(2)	13	Ovarian(52;0.00579)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0122)			Etomidate(DB00292)	CTCCTCGTTGCGGTTGATGAG	0.652													T	43395570	C	T	43395570	3	4	509	1	0	0	0	0	1	0	0	0	14632	768	27	1	849	1	SLC2A1	1	43395570	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		43395570	205855051	1	46151											
TIE1	7075	broad.mit.edu	37	chr1	43778122	43778122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggacacgggggcaggagCggcgggagaacgtctcatcc	9	3	18	11	5	1	1	1	0	1	1	3	4	2	3	1	6	2	1	1	6	1	0	rs144699870		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:43778122C>T	ENST00000372476.3	+	12	1856	c.1777C>T	c.(1777-1779)Cgg>Tgg	p.R593W	TIE1_ENST00000433781.2_Missense_Mutation_p.R238W	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	593	Fibronectin type-III 2.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGGCAGGAGCGGCGGGAGAA	0.692													T	43778122	C	T	43778122	3	4	509	1	0	0	0	0	1	0	0	0	15993	759	27	1	1823	1	TIE1	1	43778122	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	382552	43778122	205472499	2	46152											
L1TD1	54596	broad.mit.edu	37	chr1	62676044	62676044	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtggtgcacaaaacccAggaggaagaggaaacagctg	15	3	14	9	0	0	1	0	0	0	1	0	4	0	4	2	5	4	2	2	5	4	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:62676044A>T	ENST00000498273.1	+	4	1893	c.1598A>T	c.(1597-1599)cAg>cTg	p.Q533L		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	533										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						CACAAAACCCAGGAGGAAGAG	0.463													T	62676044	A	T	62676044	3	4	509	1	0	0	0	0	1	0	0	0	8648	188	7	5	1604	5	L1TD1	1	62676044	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	18897922	62676044	186574577	3	46153											
PTGFR	5737	broad.mit.edu	37	chr1	78958825	78958825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagtgtgatggccattgagCggtgtattggagtcacaaaa	11	10	14	6	1	1	2	1	2	0	0	1	3	1	3	1	3	1	2	1	3	3	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:78958825C>T	ENST00000370756.3	+	2	634	c.397C>T	c.(397-399)Cgg>Tgg	p.R133W	PTGFR_ENST00000370758.1_Missense_Mutation_p.R133W|PTGFR_ENST00000370757.3_Missense_Mutation_p.R133W	NM_001039585.1	NP_001034674.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	133					parturition	extracellular region|integral to plasma membrane	prostaglandin F receptor activity			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Latanoprost(DB00654)|Travoprost(DB00287)	GGCCATTGAGCGGTGTATTGG	0.403													T	78958825	C	T	78958825	3	4	509	1	0	0	0	0	1	0	0	0	12835	759	27	1	399	1	PTGFR	1	78958825	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	16282781	78958825	170291796	4	46154											
KCNA10	3744	broad.mit.edu	37	chr1	111060770	111060770	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacggccacagcacgggcagCgctggaactttcagggtact	9	6	13	13	3	1	0	1	0	0	0	1	1	1	1	1	4	4	4	1	4	2	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:111060770C>T	ENST00000369771.2	-	1	1027	c.640G>A	c.(640-642)Gct>Act	p.A214T		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	214						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		GCACGGGCAGCGCTGGAACTT	0.557													T	111060770	C	T	111060770	3	4	509	1	0	0	0	0	1	0	0	0	8060	768	27	1	899	1	KCNA10	1	111060770	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	32101945	111060770	138189851	5	46155											
FMO5	2330	broad.mit.edu	37	chr1	146649676	146649676	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgacccttccggctgccccCaccccacctcgccgccatgt	4	6	8	23	4	0	0	0	0	0	0	2	1	1	0	9	1	1	1	9	1	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:146649676C>G	ENST00000607149.1	+	0	350				RP11-337C18.8_ENST00000606757.1_RNA|RP11-337C18.10_ENST00000606856.1_RNA																							CGGCTGCCCCCACCCCACCTC	0.677													G	146649676	C	G	146649676	1	3	509	0	1	0	0	0	0	0	0	0	6007	609	21	4		4	FMO5	1	146649676	RNA	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	35588906	146649676	102600945	6	46156											
POGZ	23126	broad.mit.edu	37	chr1	151377720	151377720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcttttgatgcatacatctAatggctgaattttggagcta	10	17	8	6	0	2	2	0	2	2	0	2	3	2	3	0	2	3	3	0	2	4	8			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:151377720A>G	ENST00000271715.2	-	19	4105	c.3791T>C	c.(3790-3792)tTa>tCa	p.L1264S	POGZ_ENST00000361398.3_Missense_Mutation_p.L1211S|POGZ_ENST00000409503.1_Missense_Mutation_p.L1255S|POGZ_ENST00000540984.1_Missense_Mutation_p.L626S|POGZ_ENST00000491586.1_Missense_Mutation_p.L1220S|POGZ_ENST00000531094.1_Missense_Mutation_p.L1202S|POGZ_ENST00000392723.1_Missense_Mutation_p.L1211S|POGZ_ENST00000368863.2_Missense_Mutation_p.L1169S	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	1264	DDE.				cell division|kinetochore assembly|mitotic sister chromatid cohesion|regulation of transcription, DNA-dependent	cytoplasm|nuclear chromatin	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|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)			GCATACATCTAATGGCTGAAT	0.468													G	151377720	A	G	151377720	3	3	509	1	0	0	0	0	1	0	0	0	12263	372	13	3	445	3	POGZ	1	151377720	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	4728044	151377720	97872901	7	46157											
KCNT2	343450	broad.mit.edu	37	chr1	196250026	196250026	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctgagactcagtcctgtaGattccaatgggaacatctcc	10	12	8	11	0	3	2	1	1	2	2	6	4	5	3	3	1	1	1	3	1	3	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr1:196250026G>C	ENST00000367433.5	-	24	2903	c.2802C>G	c.(2800-2802)atC>atG	p.I934M	KCNT2_ENST00000367431.4_Missense_Mutation_p.I884M|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000609185.1_Missense_Mutation_p.I884M|KCNT2_ENST00000294725.9_Missense_Mutation_p.I958M	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	958						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						CAGTCCTGTAGATTCCAATGG	0.353													C	196250026	G	C	196250026	3	2	509	1	0	0	0	0	1	0	0	0	8150	932	33	4	549	4	KCNT2	1	196250026	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	44872306	196250026	53000595	8	46158											
MRPL35	51318	broad.mit.edu	37	chr2	86434352	86434352	+	Frame_Shift_Del	DEL	C	C	-																															tgaagctgccagtcagatctCtaacatacttcagtgcaaga																										TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:86434352delC	ENST00000337109.4	+	3	314	c.280delC	c.(280-282)ctafs	p.L94fs	MRPL35_ENST00000254644.8_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000409180.1_Frame_Shift_Del_p.L94fs|MRPL35_ENST00000605125.1_Intron	NM_016622.3	NP_057706.2	Q9NZE8	RM35_HUMAN	mitochondrial ribosomal protein L35	94					translation	mitochondrial ribosome	structural constituent of ribosome			cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|skin(1)|stomach(1)|urinary_tract(2)	14						AGTCAGATCTCTAACATACTT	0.403													-	86434352	C	-	86434352	7	5	509	1	0	1	0	1	0	0	0	0	9874	912	32	0	290	0	MRPL35	2	86434352	Frame_Shift_Del	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08		86434352	156765021	9	46159											
ARHGEF4	50649	broad.mit.edu	37	chr2	131704164	131704164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actctcccagagtgctccaaCgggactgaaccacatgggct	10	7	10	14	1	1	2	0	1	1	1	3	3	2	3	3	2	3	2	3	2	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:131704164C>T	ENST00000409359.1	+	4	4149	c.2951C>T	c.(2950-2952)aCg>aTg	p.T984M	ARHGEF4_ENST00000392953.3_Missense_Mutation_p.T128M|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.T128M|ARHGEF4_ENST00000428230.2_Missense_Mutation_p.T128M|ARHGEF4_ENST00000409303.1_Missense_Mutation_p.T128M|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.T128M			Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	128					apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		AGTGCTCCAACGGGACTGAAC	0.527													T	131704164	C	T	131704164	3	4	509	1	0	0	0	0	1	0	0	0	911	536	19	1	389	1	ARHGEF4	2	131704164	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45269812	131704164	111495209	10	46160											
CCDC148	130940	broad.mit.edu	37	chr2	159196883	159196883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttttaagatatgtgcaCtgttgttctgatagctcttg	9	18	8	6	0	2	2	0	1	2	1	2	2	2	2	0	0	2	4	0	0	3	8			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:159196883C>G	ENST00000283233.5	-	5	670	c.357G>C	c.(355-357)caG>caC	p.Q119H	CCDC148_ENST00000409889.1_Missense_Mutation_p.Q119H|CCDC148_ENST00000409187.1_Missense_Mutation_p.Q128H|CCDC148_ENST00000536771.1_Missense_Mutation_p.Q33H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	119										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						GATATGTGCACTGTTGTTCTG	0.343													G	159196883	C	G	159196883	3	3	509	1	0	0	0	0	1	0	0	0	2808	564	20	4	1510	4	CCDC148	2	159196883	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	27492719	159196883	84002490	11	46161											
TTN	7273	broad.mit.edu	37	chr2	179431823	179431823	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagagtttggtaactttcaGagaattggtcacaacttctg	12	14	9	6	0	3	2	2	0	1	2	3	3	3	2	0	2	2	2	0	2	4	6			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:179431823G>T	ENST00000589042.1	-	326	79260	c.79036C>A	c.(79036-79038)Ctg>Atg	p.L26346M	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L17406M|TTN_ENST00000591111.1_Missense_Mutation_p.L24705M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L17473M|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.L17281M|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.L23778M|TTN-AS1_ENST00000592600.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24705	Ig-like 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAACTTTCAGAGAATTGGTC	0.413													T	179431823	G	T	179431823	3	4	509	1	0	0	0	0	1	0	0	0	16837	933	33	4	29091	4	TTN	2	179431823	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20234940	179431823	63767550	12	46162											
ANKAR	150709	broad.mit.edu	37	chr2	190541620	190541620	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagttcttcttgtcaattacCtccagcttattatgatacca	10	16	5	10	0	3	1	1	1	2	0	4	2	4	1	3	0	3	2	3	0	5	7			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr2:190541620C>G	ENST00000520309.1	+	2	492	c.404C>G	c.(403-405)cCt>cGt	p.P135R	ANKAR_ENST00000281412.6_5'UTR|ANKAR_ENST00000438402.2_Missense_Mutation_p.P135R|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000313581.4_Missense_Mutation_p.P135R|ANKAR_ENST00000431575.2_Missense_Mutation_p.P64R	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	135						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TGTCAATTACCTCCAGCTTAT	0.348													G	190541620	C	G	190541620	3	3	509	1	0	0	0	0	1	0	0	0	623	681	24	4	406	4	ANKAR	2	190541620	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	11109797	190541620	52657753	13	46163											
COL7A1	1294	broad.mit.edu	37	chr3	48629445	48629445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggtctgctcaacagaagCgtctgcccagggcacatggg	9	6	14	12	1	3	1	1	0	2	1	3	1	3	1	1	3	4	2	1	3	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:48629445C>T	ENST00000328333.8	-	10	1350	c.1243G>A	c.(1243-1245)Gct>Act	p.A415T	COL7A1_ENST00000454817.1_Missense_Mutation_p.A415T	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	415	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TCAACAGAAGCGTCTGCCCAG	0.647													T	48629445	C	T	48629445	3	4	509	1	0	0	0	0	1	0	0	0	3735	768	27	1	8027	1	COL7A1	3	48629445	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		48629445	149392985	14	46164											
GABRR3	200959	broad.mit.edu	37	chr3	97727875	97727875	+	RNA	DEL	C	C	-																															cataaagcacatggccgaaaCcgttatcctataaaaagaat																								rs78317321		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:97727875delC	ENST00000472788.1	-	0	539					NM_001105580.2	NP_001099050.1	A8MPY1	GBRR3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, rho 3						gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			large_intestine(2)|lung(1)	3						ATGGCCGAAACCGTTATCCTA	0.403													-	97727875	C	-	97727875	6	5	509	0	1	1	0	1	0	0	0	0	6230	507	18	0		0	GABRR3	3	97727875	RNA	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08	49098430	97727875	100294555	15	46165											
PRR23B	389151	broad.mit.edu	37	chr3	138738846	138738846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggacaggctccagaaggcGgaattccaggtcaaagatgg	12	5	16	8	1	1	2	1	0	0	2	3	4	3	4	2	7	0	1	2	7	3	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:138738846G>A	ENST00000329447.5	-	1	922	c.658C>T	c.(658-660)Cgc>Tgc	p.R220C	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	220	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TCCAGAAGGCGGAATTCCAGG	0.662													A	138738846	G	A	138738846	3	1	509	1	0	0	0	0	1	0	0	0	12681	1116	39	1	143	1	PRR23B	3	138738846	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	41010971	138738846	59283584	16	46166											
MECOM	2122	broad.mit.edu	37	chr3	168806963	168806963	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacttttatattcttccTctttatacctaaaatgaacc	11	17	2	11	0	2	1	0	1	2	0	4	1	4	1	4	0	2	0	4	0	7	9			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:168806963T>C	ENST00000464456.1	-	14	4019	c.2819A>G	c.(2818-2820)gAg>gGg	p.E940G	MECOM_ENST00000264674.3_Missense_Mutation_p.E1014G|MECOM_ENST00000468789.1_Missense_Mutation_p.E949G|MECOM_ENST00000472280.1_Missense_Mutation_p.E950G|MECOM_ENST00000460814.1_Missense_Mutation_p.E940G|MECOM_ENST00000392736.3_Missense_Mutation_p.E949G|MECOM_ENST00000494292.1_Missense_Mutation_p.E1128G|MECOM_ENST00000433243.2_Missense_Mutation_p.E950G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						ATATTCTTCCTCTTTATACCT	0.303													C	168806963	T	C	168806963	3	2	509	1	0	0	0	0	1	0	0	0	9497	1551	54	3	317	3	MECOM	3	168806963	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	30068117	168806963	29215467	17	46167											
ECE2	9718	broad.mit.edu	37	chr3	184003274	184003274	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctggttgtcagcatcctgaAcaattacctgatctggaacc	10	12	8	11	0	3	2	1	2	2	0	4	3	4	3	3	2	4	2	3	2	4	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr3:184003274A>G	ENST00000402825.3	+	10	1511	c.1511A>G	c.(1510-1512)aAc>aGc	p.N504S	ECE2_ENST00000359140.4_Missense_Mutation_p.N357S|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.N386S|ECE2_ENST00000357474.5_Missense_Mutation_p.N432S	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	504	Endothelin-converting enzyme 2 region.				brain development|cardioblast differentiation|cell-cell signaling|peptide hormone processing	cytoplasmic vesicle membrane|Golgi membrane|integral to membrane	metal ion binding|metalloendopeptidase activity|methyltransferase activity			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCATCCTGAACAATTACCTG	0.522											OREG0015945	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	184003274	A	G	184003274	3	3	509	1	0	0	0	0	1	0	0	0	4929	43	2	3	2113	3	ECE2	3	184003274	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	15196311	184003274	14019156	18	46168											
CDH9	1007	broad.mit.edu	37	chr5	26885932	26885932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtaggtgctcattttgttgCgactgtagccatctttccga	7	15	10	9	2	2	0	1	0	1	0	3	2	3	0	2	1	3	4	2	1	2	6			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:26885932C>T	ENST00000231021.4	-	11	1845	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	558	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CATTTTGTTGCGACTGTAGCC	0.383													T	26885932	C	T	26885932	3	4	509	1	0	0	0	0	1	0	0	0	3147	768	27	1	704	1	CDH9	5	26885932	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		26885932	154029328	19	46169											
GPR98	84059	broad.mit.edu	37	chr5	89949239	89949239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttggtgatgtacaacTgggctgggaaatactgtcca	9	13	13	6	0	0	1	0	1	0	0	1	2	1	2	1	3	3	3	1	3	4	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:89949239T>C	ENST00000405460.2	+	20	3944	c.3848T>C	c.(3847-3849)cTg>cCg	p.L1283P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1283					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GATGTACAACTGGGCTGGGAA	0.448													C	89949239	T	C	89949239	3	2	509	1	0	0	0	0	1	0	0	0	6776	1580	55	3	3926	3	GPR98	5	89949239	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	63063307	89949239	90966021	20	46170											
TRPC7	57113	broad.mit.edu	37	chr5	135693011	135693011	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccccggatggcctggcgaCggcccttctccctcagcgtt	4	8	12	17	4	2	0	1	0	1	0	3	3	2	1	5	4	1	1	5	4	0	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:135693011C>T	ENST00000513104.1	-	2	347	c.65G>A	c.(64-66)cGt>cAt	p.R22H	TRPC7_ENST00000426057.2_Missense_Mutation_p.R22H|TRPC7_ENST00000355180.3_Missense_Mutation_p.R22H	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	22					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGCCTGGCGACGGCCCTTCTC	0.597													T	135693011	C	T	135693011	3	4	509	1	0	0	0	0	1	0	0	0	16685	536	19	1	2567	1	TRPC7	5	135693011	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45743772	135693011	45222249	21	46171											
GABRP	2568	broad.mit.edu	37	chr5	170235639	170235639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtcttacagtttgagcttCggaggaatgttctgtatttc	7	17	11	6	1	2	1	0	1	2	0	4	3	2	3	0	3	2	4	0	3	3	6			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:170235639C>T	ENST00000518525.1	+	9	1179	c.715C>T	c.(715-717)Cgg>Tgg	p.R239W	GABRP_ENST00000265294.4_Missense_Mutation_p.R239W|GABRP_ENST00000519385.1_Missense_Mutation_p.R239W|GABRP_ENST00000519598.1_Missense_Mutation_p.R239W			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	239						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	p.R239W(1)		NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTTTGAGCTTCGGAGGAATGT	0.423													T	170235639	C	T	170235639	3	4	509	1	0	0	0	0	1	0	0	0	6226	875	31	1	741	1	GABRP	5	170235639	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	34542628	170235639	10679621	22	46172											
GNB2L1	10399	broad.mit.edu	37	chr5	180669308	180669308	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggaattccatagttggtCtcatccctggtcagtttcca	7	15	9	10	0	2	0	2	0	1	0	6	1	5	1	3	3	0	2	3	3	2	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr5:180669308C>G	ENST00000512805.1	-	2	555	c.147G>C	c.(145-147)gaG>gaC	p.E49D	GNB2L1_ENST00000504726.1_Intron|GNB2L1_ENST00000376817.4_Intron|GNB2L1_ENST00000511566.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000511900.1_Missense_Mutation_p.E49D|GNB2L1_ENST00000456394.2_Missense_Mutation_p.E49D|GNB2L1_ENST00000505461.1_5'UTR	NM_006098.4	NP_006089.1	P63244	GBLP_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2-like 1	49					apoptosis|cell cycle|gastrulation|interspecies interaction between organisms|negative regulation of cell growth|negative regulation of phagocytosis|negative regulation of translation|negative regulation of Wnt receptor signaling pathway|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of gastrulation|positive regulation of GTPase activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein homooligomerization|positive regulation of protein phosphorylation|regulation of cell cycle|regulation of cell division|regulation of establishment of cell polarity|regulation of protein localization|rhythmic process	cytoskeleton|dendrite|midbody|nucleus|perikaryon|perinuclear region of cytoplasm|phagocytic cup|small ribosomal subunit	ion channel inhibitor activity|protein kinase C binding|protein phosphatase binding|protein tyrosine kinase inhibitor activity|receptor tyrosine kinase binding|SH2 domain binding			lung(3)|skin(2)	5	all_cancers(89;8.79e-06)|all_epithelial(37;1.13e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0654)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.101)|all cancers(165;0.11)		CATAGTTGGTCTCATCCCTGG	0.488													G	180669308	C	G	180669308	3	3	509	1	0	0	0	0	1	0	0	0	6574	912	32	4	834	4	GNB2L1	5	180669308	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	10433669	180669308	245952	23	46173											
PHF1	5252	broad.mit.edu	37	chr6	33382304	33382304	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccaggctcctctctgctctTaacagccacaaggaccggtg	8	9	9	15	1	2	0	0	0	2	0	5	1	4	1	4	3	3	2	4	3	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:33382304T>G	ENST00000374516.3	+	10	1198	c.927T>G	c.(925-927)ctT>ctG	p.L309L	PHF1_ENST00000374512.3_Silent_p.L309L	NM_024165.2	NP_077084.1	O43189	PHF1_HUMAN	PHD finger protein 1	309					chromatin modification	nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19		Ovarian(999;0.0443)				TCTCTGCTCTTAACAGCCACA	0.547											OREG0017346	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33382304	T	G	33382304	2	3	509	1	0	0	0	0	0	0	0	1	11897	1741	61	5		5	PHF1	6	33382304	Silent	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08		33382304	137732763	24	46174											
ABCC10	89845	broad.mit.edu	37	chr6	43415637	43415637	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcgagtgctgctggaCggcgtggacaccagccagct	7	6	16	12	3	1	0	1	0	0	0	1	3	1	2	2	4	4	3	2	4	0	0	rs144509707		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:43415637C>T	ENST00000244533.3	+	16	4196	c.3837C>T	c.(3835-3837)gaC>gaT	p.D1279D	ABCC10_ENST00000372530.4_Silent_p.D1307D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1307	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGCTGCTGGACGGCGTGGACA	0.632													T	43415637	C	T	43415637	2	4	509	1	0	0	0	0	0	0	0	1	50	535	19	1		1	ABCC10	6	43415637	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	10033333	43415637	127699430	25	46175											
ENPP5	59084	broad.mit.edu	37	chr6	46135348	46135348	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcagcatttgtatgaGatatcctaacttcttgtcaa	10	18	5	8	0	3	1	2	1	1	1	4	2	4	1	1	0	2	2	1	0	4	8			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:46135348G>T	ENST00000371383.2	-	3	912	c.652C>A	c.(652-654)Ctc>Atc	p.L218I	ENPP5_ENST00000230565.3_Missense_Mutation_p.L218I			Q9UJA9	ENPP5_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 5 (putative)	218						extracellular region|integral to membrane	hydrolase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	12						ATTTGTATGAGATATCCTAAC	0.443													T	46135348	G	T	46135348	3	4	509	1	0	0	0	0	1	0	0	0	5174	942	33	4	793	4	ENPP5	6	46135348	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	2719711	46135348	124979719	26	46176											
ECHDC1	55862	broad.mit.edu	37	chr6	127652088	127652088	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcctcataaaatccatggGatgtactataaagtgacaat	15	12	6	8	0	1	1	1	1	0	0	3	2	3	2	2	1	1	1	2	1	7	5			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr6:127652088G>T	ENST00000531967.1	-	2	607	c.104C>A	c.(103-105)tCc>tAc	p.S35Y	ECHDC1_ENST00000474289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000528402.1_Intron|ECHDC1_ENST00000368289.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000454591.2_Intron|ECHDC1_ENST00000430841.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000368291.2_Missense_Mutation_p.S29Y|ECHDC1_ENST00000309620.9_Missense_Mutation_p.S29Y|ECHDC1_ENST00000454859.3_Missense_Mutation_p.S29Y	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	35							catalytic activity			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		AAATCCATGGGATGTACTATA	0.398													T	127652088	G	T	127652088	3	4	509	1	0	0	0	0	1	0	0	0	4932	1174	41	4	839	4	ECHDC1	6	127652088	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	81516740	127652088	43462979	27	46177											
EGFR	1956	broad.mit.edu	37	chr7	55221744	55221744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgaagccacgtgcaaggacaCctgccccccactcatgctct	9	6	8	18	2	2	0	1	0	1	0	2	2	2	1	5	1	4	2	5	1	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55221744C>T	ENST00000275493.2	+	7	965	c.788C>T	c.(787-789)aCc>aTc	p.T263I	EGFR_ENST00000344576.2_Missense_Mutation_p.T263I|EGFR_ENST00000342916.3_Missense_Mutation_p.T263I|EGFR_ENST00000420316.2_Missense_Mutation_p.T263I|EGFR_ENST00000455089.1_Missense_Mutation_p.T218I|EGFR_ENST00000442591.1_Missense_Mutation_p.T263I|EGFR_ENST00000454757.2_Missense_Mutation_p.T210I	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCAAGGACACCTGCCCCCCA	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221744	C	T	55221744	3	4	509	1	0	0	0	0	1	0	0	0	5006	507	18	2	814	2	EGFR	7	55221744	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		55221744	103916919	28	46178											
EGFR	1956	broad.mit.edu	37	chr7	55249022	55249022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgtggacaacccccacGtgtgccgcctgctgggcatc	6	6	12	17	3	0	0	0	0	0	0	1	1	0	1	5	2	4	2	5	2	1	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:55249022G>A	ENST00000275493.2	+	20	2497	c.2320G>A	c.(2320-2322)Gtg>Atg	p.V774M	EGFR-AS1_ENST00000442411.1_RNA|EGFR_ENST00000455089.1_Missense_Mutation_p.V729M|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.V721M	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	774	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.H773_V774insNPH(6)|p.V774M(4)|p.H773_V774insH(2)|p.H773_V774insPH(1)|p.H773_V774insGNPH(1)|p.H773_V774insQ(1)|p.V774L(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAACCCCCACGTGTGCCGCCT	0.632		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55249022	G	A	55249022	3	1	509	1	0	0	0	0	1	0	0	0	5006	1145	40	1	2662	1	EGFR	7	55249022	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	27278	55249022	103889641	29	46179											
RHBDD2	57414	broad.mit.edu	37	chr7	75511478	75511478	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcagtcctggttccgtggctCctgctgggtgcctcgtggct	1	13	14	13	2	1	0	1	0	0	0	5	0	4	0	4	4	2	4	4	4	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:75511478C>T	ENST00000318622.4	+	3	716	c.87C>T	c.(85-87)ctC>ctT	p.L29L	RHBDD2_ENST00000428119.1_Silent_p.L29L|RHBDD2_ENST00000006777.6_Silent_p.L170L|RHBDD2_ENST00000468304.1_Intron	NM_001040457.1	NP_001035547.1	Q6NTF9	RHBD2_HUMAN	rhomboid domain containing 2	170						integral to membrane	serine-type endopeptidase activity			kidney(1)|lung(4)|prostate(1)	6						TTCCGTGGCTCCTGCTGGGTG	0.607													T	75511478	C	T	75511478	2	4	509	1	0	0	0	0	0	0	0	1	13406	842	30	2		2	RHBDD2	7	75511478	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	20262456	75511478	83627185	30	46180											
HGF	3082	broad.mit.edu	37	chr7	81381472	81381472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgtcacagacttcgtagcGtacctctggattgcttgtga	9	13	10	9	2	2	2	1	1	1	1	3	3	2	3	1	1	3	3	1	1	3	5			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81381472G>A	ENST00000222390.5	-	5	815	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	HGF_ENST00000453411.1_Missense_Mutation_p.R192C|HGF_ENST00000444829.2_Missense_Mutation_p.R197C|HGF_ENST00000457544.2_Missense_Mutation_p.R192C|HGF_ENST00000423064.2_Missense_Mutation_p.R197C	NM_000601.4	NP_000592.3	P14210	HGF_HUMAN	hepatocyte growth factor (hepapoietin A; scatter factor)	197	Kringle 1.				epithelial to mesenchymal transition|mitosis|platelet activation|platelet degranulation|proteolysis|regulation of branching involved in salivary gland morphogenesis by mesenchymal-epithelial signaling	platelet alpha granule lumen	growth factor activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(41)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	75						ACTTCGTAGCGTACCTCTGGA	0.483													A	81381472	G	A	81381472	3	1	509	1	0	0	0	0	1	0	0	0	7140	1145	40	1	1673	1	HGF	7	81381472	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	5869994	81381472	77757191	31	46181											
CACNA2D1	781	broad.mit.edu	37	chr7	81600001	81600001	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaacttactctttgggatAaactctggtaatcccaccat	11	14	6	10	0	2	1	0	1	2	0	3	2	3	2	2	2	3	1	2	2	5	5			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:81600001A>G	ENST00000356860.3	-	27	2532	c.2194T>C	c.(2194-2196)Tat>Cat	p.Y732H	CACNA2D1_ENST00000535308.1_Silent_p.F7F|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y744H	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	744						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCTTTGGGATAAACTCTGGTA	0.363													G	81600001	A	G	81600001	3	3	509	1	0	0	0	0	1	0	0	0	2574	362	13	3	1133	3	CACNA2D1	7	81600001	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	218529	81600001	77538662	32	46182											
NPTX2	4885	broad.mit.edu	37	chr7	98254436	98254436	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaacgagatcgtgctgatCgagtggggcaacaaccccat	11	6	12	12	3	0	2	0	1	0	1	2	4	0	2	3	2	4	2	3	2	3	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:98254436C>T	ENST00000265634.3	+	3	1011	c.846C>T	c.(844-846)atC>atT	p.I282I		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	282	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			TCGTGCTGATCGAGTGGGGCA	0.642													T	98254436	C	T	98254436	2	4	509	1	0	0	0	0	0	0	0	1	10679	874	31	1		1	NPTX2	7	98254436	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	16654435	98254436	60884227	33	46183											
TBXAS1	6916	broad.mit.edu	37	chr7	139661796	139661796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgcaagactttgacatcGtcagagacgttttctcctct	8	13	9	11	3	3	3	1	1	2	2	5	4	3	3	1	0	1	2	1	0	1	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:139661796G>A	ENST00000263552.6	+	13	1439	c.901G>A	c.(901-903)Gtc>Atc	p.V301I	TBXAS1_ENST00000425687.1_Missense_Mutation_p.V233I|TBXAS1_ENST00000411653.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000462275.1_3'UTR|TBXAS1_ENST00000448866.1_Missense_Mutation_p.V300I|TBXAS1_ENST00000336425.5_Missense_Mutation_p.V300I|TBXAS1_ENST00000436047.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000414508.2_Missense_Mutation_p.V301I|TBXAS1_ENST00000458722.1_Missense_Mutation_p.V346I|TBXAS1_ENST00000416849.2_Missense_Mutation_p.V347I	NM_001130966.2	NP_001124438	P24557	THAS_HUMAN	thromboxane A synthase 1 (platelet)	300					hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|thromboxane-A synthase activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	28	Melanoma(164;0.0142)					CTTTGACATCGTCAGAGACGT	0.542													A	139661796	G	A	139661796	3	1	509	1	0	0	0	0	1	0	0	0	15764	1145	40	1	1077	1	TBXAS1	7	139661796	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	41407360	139661796	19476867	34	46184											
KEL	3792	broad.mit.edu	37	chr7	142651436	142651436	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aaggttcccagctgattcagGtaagtcaggtattcccgaaa	12	10	10	9	1	2	1	2	1	0	0	4	2	4	1	2	3	1	4	2	3	4	5			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr7:142651436G>T	ENST00000355265.2	-	8	1233	c.759C>A	c.(757-759)taC>taA	p.Y253*	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	253					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCTGATTCAGGTAAGTCAGGT	0.527													T	142651436	G	T	142651436	4	4	509	1	0	0	0	0	0	1	0	0	8200	1256	44	4	1487	4	KEL	7	142651436	Nonsense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	2989640	142651436	16487227	35	46185											
CSMD1	64478	broad.mit.edu	37	chr8	2886955	2886955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcaatacttgagcacCgtactcattcaaggatcctg	11	10	8	12	1	3	1	3	1	0	0	4	2	4	2	2	1	4	4	2	1	4	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:2886955C>T	ENST00000602557.1	-	52	8299	c.7744G>A	c.(7744-7746)Ggt>Agt	p.G2582S	CSMD1_ENST00000537824.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000602723.1_Missense_Mutation_p.G2582S|CSMD1_ENST00000542608.1_Missense_Mutation_p.G2581S|CSMD1_ENST00000400186.3_Missense_Mutation_p.G2582S|CSMD1_ENST00000520002.1_Missense_Mutation_p.G2582S			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2582	Sushi 16.					integral to membrane				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTGAGCACCGTACTCATTC	0.537													T	2886955	C	T	2886955	3	4	509	1	0	0	0	0	1	0	0	0	3977	652	23	1	3033	1	CSMD1	8	2886955	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2886955	143477067	36	46186											
ADAM7	8756	broad.mit.edu	37	chr8	24304756	24304756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taaatagaaaaaccttagtcCttcatcttctaagatccagg	15	12	5	9	0	3	2	1	0	2	2	5	2	5	2	3	1	1	0	3	1	7	6			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:24304756C>T	ENST00000175238.6	+	3	297	c.214C>T	c.(214-216)Ctt>Ttt	p.L72F	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.L72F|ADAM7_ENST00000441335.2_Missense_Mutation_p.L72F	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	72					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		AACCTTAGTCCTTCATCTTCT	0.328													T	24304756	C	T	24304756	3	4	509	1	0	0	0	0	1	0	0	0	251	681	24	2	224	2	ADAM7	8	24304756	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	21417801	24304756	122059266	37	46187											
EBF2	64641	broad.mit.edu	37	chr8	25747368	25747368	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtgtccatccacattcacCgttgttgacaacacaacctg	11	10	6	14	2	1	1	1	1	0	0	3	1	3	1	4	0	2	2	4	0	2	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:25747368C>T	ENST00000520164.1	-	8	1188	c.651G>A	c.(649-651)acG>acA	p.T217T	EBF2_ENST00000408929.3_Silent_p.T69T	NM_022659.3	NP_073150.2	Q9HAK2	COE2_HUMAN	early B-cell factor 2	217					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding			endometrium(3)|kidney(2)|large_intestine(3)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(63;0.0989)|Ovarian(32;2.74e-05)|all_epithelial(46;0.0608)|Prostate(55;0.0845)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0277)|Epithelial(17;3.29e-10)|Colorectal(74;0.00383)|COAD - Colon adenocarcinoma(73;0.00738)		CCACATTCACCGTTGTTGACA	0.428													T	25747368	C	T	25747368	2	4	509	1	0	0	0	0	0	0	0	1	4920	639	23	1		1	EBF2	8	25747368	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	1442612	25747368	120616654	38	46188											
ADAM2	2515	broad.mit.edu	37	chr8	39624684	39624684	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcttactagacagttttcGcagcatggtccttcagcaca	9	12	8	12	1	2	1	1	0	1	1	4	1	3	1	1	1	3	5	1	1	2	5	rs150053966	by1000genomes	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:39624684G>A	ENST00000265708.4	-	13	1402	c.1299C>T	c.(1297-1299)tgC>tgT	p.C433C	ADAM2_ENST00000521880.1_Silent_p.C433C|ADAM2_ENST00000347580.4_Silent_p.C414C|ADAM2_ENST00000379853.2_Silent_p.C307C	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	433	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACAGTTTTCGCAGCATGGTC	0.348													A	39624684	G	A	39624684	2	1	509	1	0	0	0	0	0	0	0	1	241	1079	38	1		1	ADAM2	8	39624684	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	13877316	39624684	106739338	39	46189											
C8orf34	116328	broad.mit.edu	37	chr8	69552632	69552632	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttaatgatttaagaaTggagggagtaacaaccctgg	14	10	12	5	0	1	2	0	1	1	1	1	5	1	5	1	4	2	1	1	4	5	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:69552632T>G	ENST00000337103.4	+	7	2386	c.794T>G	c.(793-795)aTg>aGg	p.M265R	C8orf34_ENST00000539993.1_Missense_Mutation_p.M290R|C8orf34_ENST00000518698.1_Missense_Mutation_p.M376R|C8orf34_ENST00000325233.3_Missense_Mutation_p.M34R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	290					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			GATTTAAGAATGGAGGGAGTA	0.398													G	69552632	T	G	69552632	3	3	509	1	0	0	0	0	1	0	0	0	2447	1464	51	5	820	5	C8orf34	8	69552632	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	29927948	69552632	76811390	40	46190											
RIMS2	9699	broad.mit.edu	37	chr8	105001535	105001535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagatcttgttgttttagtcGgaatgtggaacaggggcttc	8	15	13	5	1	1	1	0	0	1	1	3	3	1	3	0	4	1	3	0	4	4	6			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:105001535G>A	ENST00000507740.1	+	14	2542	c.2306G>A	c.(2305-2307)cGg>cAg	p.R769Q	RIMS2_ENST00000262231.10_Missense_Mutation_p.R816Q|RIMS2_ENST00000406091.3_Missense_Mutation_p.R977Q|RIMS2_ENST00000436393.2_Missense_Mutation_p.R755Q	NM_014677.4	NP_055492.3	Q9UQ26	RIMS2_HUMAN	regulating synaptic membrane exocytosis 2	1039					intracellular protein transport	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(4)|central_nervous_system(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(22)|liver(1)|lung(68)|ovary(6)|pancreas(2)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(10)|urinary_tract(1)	144			OV - Ovarian serous cystadenocarcinoma(57;7.7e-07)|STAD - Stomach adenocarcinoma(118;0.229)			TGTTTTAGTCGGAATGTGGAA	0.383										HNSCC(12;0.0054)			A	105001535	G	A	105001535	3	1	509	1	0	0	0	0	1	0	0	0	13459	1116	39	1	3122	1	RIMS2	8	105001535	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	35448903	105001535	41362487	41	46191											
SCRIB	23513	broad.mit.edu	37	chr8	144893419	144893419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggacgctgagtgccaCacagcccccgatctcgggcg	8	4	15	14	4	1	2	0	1	1	1	2	5	1	3	3	3	2	1	3	3	0	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr8:144893419C>T	ENST00000356994.2	-	10	1009	c.1003G>A	c.(1003-1005)Gtg>Atg	p.V335M	SCRIB_ENST00000377533.3_Missense_Mutation_p.V254M|SCRIB_ENST00000320476.3_Missense_Mutation_p.V335M	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	335	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CTGAGTGCCACACAGCCCCCG	0.677													T	144893419	C	T	144893419	3	4	509	1	0	0	0	0	1	0	0	0	14030	478	17	2	4076	2	SCRIB	8	144893419	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	39891884	144893419	1470603	42	46192											
TMEM215	401498	broad.mit.edu	37	chr9	32784298	32784298	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaggggagactttgggaaaCatccccctcctggccatcgg	10	7	12	12	1	0	1	0	0	0	1	3	3	2	2	4	5	1	0	4	5	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:32784298C>T	ENST00000342743.5	+	2	482	c.117C>T	c.(115-117)aaC>aaT	p.N39N		NM_212558.2	NP_997723.2	Q68D42	TM215_HUMAN	transmembrane protein 215	39						integral to membrane				endometrium(4)|kidney(1)|large_intestine(3)|lung(2)|prostate(2)	12						CTTTGGGAAACATCCCCCTCC	0.592													T	32784298	C	T	32784298	2	4	509	1	0	0	0	0	0	0	0	1	16238	477	17	2		2	TMEM215	9	32784298	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		32784298	108429133	43	46193											
BAAT	570	broad.mit.edu	37	chr9	104133578	104133578	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	catgtctccgttttcatcttCcagtgatgcctgaaaactca	9	14	6	12	1	4	2	2	2	2	0	6	2	5	2	3	0	2	1	3	0	2	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:104133578C>G	ENST00000259407.2	-	2	217	c.109G>C	c.(109-111)Gaa>Caa	p.E37Q	BAAT_ENST00000395051.3_Missense_Mutation_p.E37Q	NM_001127610.1|NM_001701.3	NP_001121082.1|NP_001692.1	Q14032	BAAT_HUMAN	bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase)	37					acyl-CoA metabolic process|bile acid and bile salt transport|bile acid biosynthetic process|digestion|fatty acid metabolic process|glycine metabolic process	cytosol|peroxisomal matrix	carboxylesterase activity|glycine N-choloyltransferase activity|N-acyltransferase activity|palmitoyl-CoA hydrolase activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		Acute lymphoblastic leukemia(62;0.0559)			Glycine(DB00145)	TTTTCATCTTCCAGTGATGCC	0.478													G	104133578	C	G	104133578	3	3	509	1	0	0	0	0	1	0	0	0	1285	864	30	4	1159	4	BAAT	9	104133578	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	71349280	104133578	37079853	44	46194											
LRRC8A	56262	broad.mit.edu	37	chr9	131670897	131670897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagcggccaagattgaagCgcccgcgctggccttcctgc	7	6	12	16	4	0	2	0	1	0	1	1	2	1	2	4	2	3	1	4	2	2	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr9:131670897C>T	ENST00000259324.5	+	3	1977	c.1454C>T	c.(1453-1455)gCg>gTg	p.A485V	LRRC8A_ENST00000372599.3_Missense_Mutation_p.A485V|LRRC8A_ENST00000372600.4_Missense_Mutation_p.A485V	NM_001127244.1	NP_001120716.1	Q8IWT6	LRC8A_HUMAN	leucine rich repeat containing 8 family, member A	485					pre-B cell differentiation	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(3)	28						AAGATTGAAGCGCCCGCGCTG	0.612													T	131670897	C	T	131670897	3	4	509	1	0	0	0	0	1	0	0	0	9091	768	27	1	1456	1	LRRC8A	9	131670897	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	27537319	131670897	9542534	45	46195											
TSSC4	10078	broad.mit.edu	37	chr11	2424084	2424084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccgtcaggcctcctccCagccacggtgcagccattcc	6	6	8	21	2	1	0	1	0	0	0	4	0	4	0	8	2	3	1	8	2	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2424084C>T	ENST00000333256.6	+	3	664	c.221C>T	c.(220-222)cCa>cTa	p.P74L	TSSC4_ENST00000380992.1_Missense_Mutation_p.P10L|TSSC4_ENST00000380996.5_Missense_Mutation_p.P10L|TSSC4_ENST00000451491.2_Missense_Mutation_p.P74L			Q9Y5U2	TSSC4_HUMAN	tumor suppressing subtransferable candidate 4	74										endometrium(3)|large_intestine(1)|lung(4)	8		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.00145)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGCCTCCTCCCAGCCACGGTG	0.662													T	2424084	C	T	2424084	3	4	509	1	0	0	0	0	1	0	0	0	16768	594	21	2	223	2	TSSC4	11	2424084	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2424084	132582432	46	46196											
TRPM5	29850	broad.mit.edu	37	chr11	2444189	2444189	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccctccaaagttgacctcGcccctgtgcaagcccagctc	8	7	8	18	1	0	1	0	1	0	0	3	2	1	1	6	0	3	3	6	0	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:2444189G>A	ENST00000452833.1	-	1	86	c.78C>T	c.(76-78)ggC>ggT	p.G26G	TRPM5_ENST00000155858.6_Silent_p.G26G|TRPM5_ENST00000533060.1_Silent_p.G26G|TRPM5_ENST00000528453.1_Silent_p.G26G			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	26						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		AGTTGACCTCGCCCCTGTGCA	0.657													A	2444189	G	A	2444189	2	1	509	1	0	0	0	0	0	0	0	1	16690	1074	38	1		1	TRPM5	11	2444189	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20105	2444189	132562327	47	46197											
MICAL2	9645	broad.mit.edu	37	chr11	12281413	12281413	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagttcttgcgcagtggcCgccattggcaccctggaagg	8	8	14	11	2	1	0	0	0	1	0	1	2	1	1	3	4	1	3	3	4	2	3	rs144667365		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:12281413C>T	ENST00000256194.4	+	26	3591	c.3303C>T	c.(3301-3303)gcC>gcT	p.A1101A	MICAL2_ENST00000379612.3_Silent_p.A875A|MICAL2_ENST00000342902.5_Silent_p.A1080A|MICAL2_ENST00000537344.1_Silent_p.A911A|MICAL2_ENST00000527546.1_Silent_p.A911A	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	1101						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		GCGCAGTGGCCGCCATTGGCA	0.592													T	12281413	C	T	12281413	2	4	509	1	0	0	0	0	0	0	0	1	9645	639	23	1		1	MICAL2	11	12281413	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	9837224	12281413	122725103	48	46198											
OR5D18	219438	broad.mit.edu	37	chr11	55587765	55587765	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgttctcacatcttatgcGttcattgttgtaaccatcct	8	17	5	11	2	3	0	2	0	2	0	6	0	4	0	2	0	2	4	2	0	2	6			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:55587765G>A	ENST00000333976.4	+	1	680	c.660G>A	c.(658-660)gcG>gcA	p.A220A		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A220A(1)		NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				CATCTTATGCGTTCATTGTTG	0.483													A	55587765	G	A	55587765	2	1	509	1	0	0	0	0	0	0	0	1	11233	1132	40	1		1	OR5D18	11	55587765	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	43306352	55587765	79418751	49	46199											
MS4A4A	51338	broad.mit.edu	37	chr11	60064762	60064762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggaagtaaccctatttcCgtgtatatcgggtacacaat	12	13	8	8	2	0	0	0	0	0	0	2	1	1	1	2	2	2	3	2	2	8	7			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:60064762C>T	ENST00000355131.3	+	4	460	c.237C>T	c.(235-237)tcC>tcT	p.S79S	MS4A4A_ENST00000337908.4_Silent_p.S98S|MS4A4A_ENST00000532114.1_Silent_p.S98S|MS4A4A_ENST00000395016.3_Silent_p.S79S	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	98						integral to membrane	receptor activity	p.S79S(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						ACCCTATTTCCGTGTATATCG	0.378													T	60064762	C	T	60064762	2	4	509	1	0	0	0	0	0	0	0	1	9938	639	23	1		1	MS4A4A	11	60064762	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	4476997	60064762	74941754	50	46200											
NUMA1	4926	broad.mit.edu	37	chr11	71729545	71729545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaatgcgctgctgcatcaTggctatctgtgcatctgccc	6	12	10	13	1	4	0	2	0	2	0	4	0	4	0	1	1	5	5	1	1	2	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr11:71729545T>C	ENST00000393695.3	-	11	1088	c.757A>G	c.(757-759)Atg>Gtg	p.M253V	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Missense_Mutation_p.M253V|NUMA1_ENST00000358965.6_Missense_Mutation_p.M253V	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	253					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TGCTGCATCATGGCTATCTGT	0.562			T	RARA	APL								C	71729545	T	C	71729545	3	2	509	1	0	0	0	0	1	0	0	0	10826	1464	51	3	5658	3	NUMA1	11	71729545	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	11664783	71729545	63276971	51	46201											
OR6C74	254783	broad.mit.edu	37	chr12	55641906	55641907	+	Frame_Shift_Ins	INS	-	-	T																															agctctgctcagcacttctgINSttgcccccatgttgaatccc																										TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:55641906_55641907insT	ENST00000343870.4	+	1	925_926	c.835_836insT	c.(835-837)gttfs	p.V279fs		NM_001005490.1	NP_001005490.1	A6NCV1	O6C74_HUMAN	olfactory receptor, family 6, subfamily C, member 74	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(3)|lung(7)|prostate(1)	12						CAGCACTTCTGTTGCCCCCATG	0.371													T	55641907	-	T	55641906	7	5	509	1	0	1	1	0	0	0	0	0	11274	1377	48	0	837	0	OR6C74	12	55641906	Frame_Shift_Ins	INS	-	TCGA-FG-A87Q-01A-11D-A36O-08		55641906	78209989	52	46202											
ACACB	32	broad.mit.edu	37	chr12	109604740	109604740	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggacctgcacagagactttaCcgtggcttctcccgctgagt	7	10	11	13	2	1	2	0	1	1	1	2	4	1	3	3	2	2	3	3	2	1	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr12:109604740C>A	ENST00000338432.7	+	3	847	c.728C>A	c.(727-729)aCc>aAc	p.T243N	ACACB_ENST00000377854.5_Missense_Mutation_p.T243N|ACACB_ENST00000377848.3_Missense_Mutation_p.T243N			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	243					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	AGAGACTTTACCGTGGCTTCT	0.587													A	109604740	C	A	109604740	3	1	509	1	0	0	0	0	1	0	0	0	107	507	18	4	734	4	ACACB	12	109604740	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	53962834	109604740	24247155	53	46203											
OR4Q3	441669	broad.mit.edu	37	chr14	20216301	20216301	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccagaacaaggtcttcTctacctgtgcttctcacctg	8	11	9	13	0	3	1	1	0	3	1	5	1	3	1	3	2	3	1	3	2	3	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:20216301T>C	ENST00000331723.1	+	1	715	c.715T>C	c.(715-717)Tct>Cct	p.S239P		NM_172194.1	NP_751944.1	Q8NH05	OR4Q3_HUMAN	olfactory receptor, family 4, subfamily Q, member 3	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(4)|endometrium(3)|kidney(2)|large_intestine(1)|lung(28)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	47	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CAAGGTCTTCTCTACCTGTGC	0.468													C	20216301	T	C	20216301	3	2	509	1	0	0	0	0	1	0	0	0	11157	1551	54	3	717	3	OR4Q3	14	20216301	Missense_Mutation	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08		20216301	87133239	54	46204											
RTN1	6252	broad.mit.edu	37	chr14	60194231	60194231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggggatggttggcggtcCggacctggccttgacctcgg	3	9	18	11	3	0	1	0	1	0	0	2	3	1	3	4	8	0	2	4	8	0	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:60194231C>T	ENST00000267484.5	-	3	1506	c.1171G>A	c.(1171-1173)Gga>Aga	p.G391R		NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	391					neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity			central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		GTTGGCGGTCCGGACCTGGCC	0.672													T	60194231	C	T	60194231	3	4	509	1	0	0	0	0	1	0	0	0	13816	661	23	1	1252	1	RTN1	14	60194231	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	39977930	60194231	47155309	55	46205											
AHNAK2	113146	broad.mit.edu	37	chr14	105419205	105419205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcacgtcggcctccaccttCggcgcagacacatccaccga	8	6	8	19	5	1	1	1	0	0	1	5	2	3	1	5	2	0	1	5	2	0	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr14:105419205C>T	ENST00000333244.5	-	7	2702	c.2583G>A	c.(2581-2583)ccG>ccA	p.P861P	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	861						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTCCACCTTCGGCGCAGACA	0.607													T	105419205	C	T	105419205	2	4	509	1	0	0	0	0	0	0	0	1	415	871	31	1		1	AHNAK2	14	105419205	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	45224974	105419205	1930335	56	46206											
CASC4	113201	broad.mit.edu	37	chr15	44705563	44705563	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aacgagagcttcaaatggatCctgcagactatggaaagcaa	16	7	10	8	1	1	2	1	0	0	2	2	5	2	4	1	2	4	3	1	2	5	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:44705563C>G	ENST00000299957.6	+	10	1569	c.1270C>G	c.(1270-1272)Cct>Gct	p.P424A	CASC4_ENST00000345795.2_Missense_Mutation_p.P368A|RP11-516C1.1_ENST00000558047.1_RNA|CASC4_ENST00000360824.3_3'UTR	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	199						integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		TCAAATGGATCCTGCAGACTA	0.318													G	44705563	C	G	44705563	3	3	509	1	0	0	0	0	1	0	0	0	2688	855	30	4	1308	4	CASC4	15	44705563	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		44705563	57825829	57	46207											
ZNF609	23060	broad.mit.edu	37	chr15	64970400	64970400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagcggtggaaggaggagcGggaccgcaaattgaaggagg	12	4	20	5	3	0	2	0	2	0	0	0	7	0	7	1	7	2	1	1	7	3	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:64970400G>A	ENST00000326648.3	+	5	3616	c.3488G>A	c.(3487-3489)cGg>cAg	p.R1163Q		NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	1163						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGGAGGAGCGGGACCGCAAA	0.527													A	64970400	G	A	64970400	3	1	509	1	0	0	0	0	1	0	0	0	18136	1116	39	1	3506	1	ZNF609	15	64970400	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	20264837	64970400	37560992	58	46208											
ZSCAN2	54993	broad.mit.edu	37	chr15	85164512	85164512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacactggagaaaagccctaCgaatgtaaagaatgcggcga	16	5	11	9	3	0	2	0	0	0	2	0	5	0	2	1	2	3	1	1	2	7	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr15:85164512C>T	ENST00000448803.2	+	3	1378	c.1086C>T	c.(1084-1086)taC>taT	p.Y362Y	ZSCAN2_ENST00000546148.1_Silent_p.Y362Y|ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Silent_p.Y361Y|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000358472.3_Silent_p.Y212Y|ZSCAN2_ENST00000538076.1_Intron	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	362					cell differentiation|multicellular organismal development|spermatogenesis|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		AAAAGCCCTACGAATGTAAAG	0.493													T	85164512	C	T	85164512	2	4	509	1	0	0	0	0	0	0	0	1	18329	547	19	1		1	ZSCAN2	15	85164512	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	20194112	85164512	17366880	59	46209											
ABCA3	21	broad.mit.edu	37	chr16	2376171	2376171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccgggtagatggtggcGttgggcacattttccgactg	5	11	16	9	3	0	1	0	0	0	1	1	2	1	1	2	5	0	3	2	5	1	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:2376171G>A	ENST00000301732.5	-	5	859	c.159C>T	c.(157-159)aaC>aaT	p.N53N	ABCA3_ENST00000567910.1_Silent_p.N53N|ABCA3_ENST00000382381.3_Silent_p.N53N	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	53					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGATGGTGGCGTTGGGCACAT	0.572													A	2376171	G	A	2376171	2	1	509	1	0	0	0	0	0	0	0	1	33	1136	40	1		1	ABCA3	16	2376171	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08		2376171	87978582	60	46210											
CD19	930	broad.mit.edu	37	chr16	28944769	28944769	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagctcaagacgctggaaaGtattattgtcaccgtggcaa	13	9	10	9	2	2	1	2	0	0	1	2	2	2	2	1	2	1	4	1	2	5	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:28944769G>A	ENST00000538922.1	+	4	836	c.774G>A	c.(772-774)aaG>aaA	p.K258K	CD19_ENST00000324662.3_Silent_p.K258K|CD19_ENST00000567541.1_Silent_p.K258K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	258	Ig-like C2-type 2.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						ACGCTGGAAAGTATTATTGTC	0.562													A	28944769	G	A	28944769	2	1	509	1	0	0	0	0	0	0	0	1	3003	1020	36	2		2	CD19	16	28944769	Silent	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	26568598	28944769	61409984	61	46211											
ZNF764	92595	broad.mit.edu	37	chr16	30567015	30567015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcgaagtcagcgccgagcGctgcgtgaaggcccggccac	7	4	16	14	6	1	1	1	1	0	0	1	3	1	1	3	2	4	1	3	2	2	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr16:30567015G>A	ENST00000395091.2	-	3	1039	c.724C>T	c.(724-726)Cgc>Tgc	p.R242C	AC002310.13_ENST00000568114.1_Intron|ZNF764_ENST00000252797.2_Missense_Mutation_p.R243C			Q96H86	ZN764_HUMAN	zinc finger protein 764	243					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						AGCGCCGAGCGCTGCGTGAAG	0.687													A	30567015	G	A	30567015	3	1	509	1	0	0	0	0	1	0	0	0	18238	1087	38	1	503	1	ZNF764	16	30567015	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	1622246	30567015	59787738	62	46212											
BAHCC1	57597	broad.mit.edu	37	chr17	79409603	79409603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaagggccgccccttccagGccgccgaggcctgtgccgtg	5	5	14	17	4	0	0	0	0	0	0	1	1	1	0	8	3	1	0	8	3	1	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr17:79409603G>A	ENST00000307745.7	+	9	1228	c.1228G>A	c.(1228-1230)Gcc>Acc	p.A410T																								CCCCTTCCAGGCCGCCGAGGC	0.701													A	79409603	G	A	79409603	3	1	509	1	0	0	0	0	1	0	0	0	1301	1203	42	2	1077	2	BAHCC1	17	79409603	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08		79409603	1785607	63	46213											
DSC2	1824	broad.mit.edu	37	chr18	28662324	28662324	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagcagtattcactaagtcCttatcctcaacagtaactcg	12	13	5	11	1	2	0	2	0	0	0	5	0	4	0	2	0	3	3	2	0	6	6			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:28662324C>T	ENST00000280904.6	-	9	1586	c.1143G>A	c.(1141-1143)aaG>aaA	p.K381K	DSC2_ENST00000251081.6_Silent_p.K381K	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	381	Cadherin 3.				homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			TCACTAAGTCCTTATCCTCAA	0.318													T	28662324	C	T	28662324	2	4	509	1	0	0	0	0	0	0	0	1	4805	680	24	2		2	DSC2	18	28662324	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		28662324	49414924	64	46214											
ME2	4200	broad.mit.edu	37	chr18	48439304	48439304	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcccagtatggacacAtctttagaagacctaagtaa	13	10	7	11	0	1	2	0	0	1	2	2	3	2	3	3	1	1	3	3	1	5	5			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr18:48439304A>C	ENST00000321341.5	+	4	648	c.376A>C	c.(376-378)Atc>Ctc	p.I126L	ME2_ENST00000382927.3_Missense_Mutation_p.I126L	NM_002396.4	NP_002387.1	P23368	MAOM_HUMAN	malic enzyme 2, NAD(+)-dependent, mitochondrial	126					malate metabolic process	mitochondrial matrix	electron carrier activity|malate dehydrogenase (decarboxylating) activity|malate dehydrogenase (oxaloacetate-decarboxylating) activity|metal ion binding|NAD binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(3)	23		Colorectal(6;0.0273)|all_epithelial(6;0.118)		Colorectal(21;0.0313)|READ - Rectum adenocarcinoma(32;0.105)|STAD - Stomach adenocarcinoma(97;0.184)	NADH(DB00157)	GTATGGACACATCTTTAGAAG	0.328													C	48439304	A	C	48439304	3	2	509	1	0	0	0	0	1	0	0	0	9493	217	8	5	386	5	ME2	18	48439304	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	19776980	48439304	29637944	65	46215											
THOP1	7064	broad.mit.edu	37	chr19	2799775	2799775	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgaccttcctgcccttcaCgctccaggagctaggtaggg	7	8	11	15	2	1	0	1	0	0	0	3	2	3	1	4	3	2	3	4	3	2	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:2799775C>T	ENST00000307741.6	+	5	778	c.575C>T	c.(574-576)aCg>aTg	p.T192M	THOP1_ENST00000586677.1_Missense_Mutation_p.T71M	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	192					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CTGCCCTTCACGCTCCAGGAG	0.612													T	2799775	C	T	2799775	3	4	509	1	0	0	0	0	1	0	0	0	15971	536	19	1	593	1	THOP1	19	2799775	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		2799775	56329208	66	46216											
ZNF560	147741	broad.mit.edu	37	chr19	9577519	9577519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggtgagagtttttaagcGatcatgaaagcacatggaat	13	13	11	4	1	1	2	1	2	0	1	1	5	1	3	0	2	2	2	0	2	3	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:9577519G>A	ENST00000301480.4	-	10	2317	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	702					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						GTTTTTAAGCGATCATGAAAG	0.378													A	9577519	G	A	9577519	3	1	509	1	0	0	0	0	1	0	0	0	18092	1058	37	1	272	1	ZNF560	19	9577519	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	6777744	9577519	49551464	67	46217											
CD22	933	broad.mit.edu	37	chr19	35837090	35837090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgcagagacctcccccGgactgcgatgacacggtcac	10	5	12	14	3	1	3	1	1	0	2	2	7	2	4	3	2	2	1	3	2	0	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:35837090G>A	ENST00000544992.2	+	12	2286	c.2245G>A	c.(2245-2247)Gga>Aga	p.G749R	CD22_ENST00000419549.2_Silent_p.P616P|CD22_ENST00000594250.1_Silent_p.P611P|CD22_ENST00000341773.6_Silent_p.P611P|CD22_ENST00000536635.2_Silent_p.P700P|CD22_ENST00000085219.5_Silent_p.P788P|CD22_ENST00000270311.6_Silent_p.P603P			P20273	CD22_HUMAN	CD22 molecule	0					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GACCTCCCCCGGACTGCGATG	0.587													A	35837090	G	A	35837090	3	1	509	1	0	0	0	0	1	0	0	0	3015	1117	39	1	2410	1	CD22	19	35837090	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	26259571	35837090	23291893	68	46218											
ZNF880	400713	broad.mit.edu	37	chr19	52877716	52877717	+	Frame_Shift_Ins	INS	-	-	T																															ccagagtggaggccccataaINSttttttttttttttaaacag																								rs77187934		TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:52877716_52877717insT	ENST00000597976.1	+	3	324_325	c.304_305insT	c.(304-306)attfs	p.I102fs	ZNF880_ENST00000424032.2_Intron|ZNF880_ENST00000600321.1_Intron|ZNF880_ENST00000344085.5_Intron|ZNF880_ENST00000422689.2_Intron			Q6PDB4	ZN880_HUMAN	zinc finger protein 880	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	10						AGGCCCCATAAttttttttttt	0.475													T	52877717	-	T	52877716	7	5	509	1	0	1	1	0	0	0	0	0	18296	116	4	0		0	ZNF880	19	52877716	Frame_Shift_Ins	INS	-	TCGA-FG-A87Q-01A-11D-A36O-08	17040626	52877716	6251267	69	46219											
ZNF83	55769	broad.mit.edu	37	chr19	53122295	53122295	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaattctatggccacAtccctgaatgtcaatagacc	13	10	8	10	0	2	4	1	2	1	2	3	5	3	4	3	1	0	0	3	1	5	3	rs11669959	by1000genomes	TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr19:53122295A>G	ENST00000594682.2	-	5	363	c.36T>C	c.(34-36)gaT>gaC	p.D12D	ZNF83_ENST00000598536.1_Intron|ZNF83_ENST00000597161.1_Silent_p.D12D|ZNF83_ENST00000600714.1_Silent_p.D12D|ZNF83_ENST00000301096.3_Intron|ZNF83_ENST00000596930.1_Silent_p.D12D|ZNF83_ENST00000601257.1_Silent_p.D12D|ZNF83_ENST00000545872.1_Intron|ZNF83_ENST00000597597.1_Intron|ZNF83_ENST00000544146.1_5'UTR|ZNF83_ENST00000536937.1_5'UTR	NM_001105552.1|NM_001277945.1|NM_001277946.1|NM_001277948.1	NP_001099022.1|NP_001264874.1|NP_001264875.1|NP_001264877.1	P51522	ZNF83_HUMAN	zinc finger protein 83							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	18				OV - Ovarian serous cystadenocarcinoma(262;0.00841)|GBM - Glioblastoma multiforme(134;0.0244)		CTATGGCCACATCCCTGAATG	0.433													G	53122295	A	G	53122295	2	3	509	1	0	0	0	0	0	0	0	1	18282	232	8	3		3	ZNF83	19	53122295	Silent	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	244579	53122295	6006688	70	46220											
CST4	1472	broad.mit.edu	37	chr20	23669406	23669406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggctcgcagcacctgcagCgggcgtctgtagtactcatc	6	9	12	14	3	2	0	1	0	1	0	4	0	2	0	1	2	4	6	1	2	2	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:23669406C>T	ENST00000217423.3	-	1	271	c.201G>A	c.(199-201)ccG>ccA	p.P67P		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	67						extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					GCACCTGCAGCGGGCGTCTGT	0.597													T	23669406	C	T	23669406	2	4	509	1	0	0	0	0	0	0	0	1	4007	755	27	1		1	CST4	20	23669406	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		23669406	39356114	71	46221											
CABLES2	81928	broad.mit.edu	37	chr20	60966137	60966137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaccctatcaggtcgcGcctgttgaatcgaaaccttt	10	11	7	13	3	2	1	2	1	0	0	4	2	2	1	3	1	2	1	3	1	4	3			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr20:60966137G>A	ENST00000279101.5	-	10	1335	c.1327C>T	c.(1327-1329)Cgc>Tgc	p.R443C		NM_031215.2	NP_112492.2	Q9BTV7	CABL2_HUMAN	Cdk5 and Abl enzyme substrate 2	443					cell cycle|cell division|regulation of cell cycle|regulation of cell division		cyclin-dependent protein kinase regulator activity			endometrium(2)|kidney(1)|lung(6)|pancreas(1)|skin(1)	11	Breast(26;2.05e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ATCAGGTCGCGCCTGTTGAAT	0.557													A	60966137	G	A	60966137	3	1	509	1	0	0	0	0	1	0	0	0	2556	1087	38	1	113	1	CABLES2	20	60966137	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	37296731	60966137	2059383	72	46222											
NOL12	79159	broad.mit.edu	37	chr22	38082445	38082445	+	Frame_Shift_Del	DEL	C	C	-																															gagatggtgacgaccggcggCcgaggctcgttcttagcttc																										TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:38082445delC	ENST00000359114.4	+	1	116	c.46delC	c.(46-48)ccgfs	p.P16fs	NOL12_ENST00000493862.1_Intron	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	16						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CGACCGGCGGCCGAGGCTCGT	0.627													-	38082445	C	-	38082445	7	5	509	1	0	1	0	1	0	0	0	0	10598	739	26	0	48	0	NOL12	22	38082445	Frame_Shift_Del	DEL	C	TCGA-FG-A87Q-01A-11D-A36O-08		38082445	13222121	73	46223											
CELSR1	9620	broad.mit.edu	37	chr22	46859990	46859990	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgcggacgccgccaggcAgcagcgccgagaaggtcacg	8	1	17	15	7	1	1	1	0	0	1	1	3	1	2	4	4	2	2	4	4	1	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chr22:46859990A>G	ENST00000262738.3	-	2	3796	c.3797T>C	c.(3796-3798)cTg>cCg	p.L1266P	CELSR1_ENST00000395964.1_Missense_Mutation_p.L1266P	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1266					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GCCGCCAGGCAGCAGCGCCGA	0.632													G	46859990	A	G	46859990	3	3	509	1	0	0	0	0	1	0	0	0	3251	188	7	3	5383	3	CELSR1	22	46859990	Missense_Mutation	SNP	A	TCGA-FG-A87Q-01A-11D-A36O-08	8777545	46859990	4444576	74	46224											
ASB9	140462	broad.mit.edu	37	chrX	15287957	15287957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagtcccttggccccgCgggcttgctcccatccatgc	6	8	11	16	2	0	0	0	0	0	0	3	1	3	1	5	3	2	2	5	3	1	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:15287957C>T	ENST00000546332.1	-	2	523	c.40G>A	c.(40-42)Gcg>Acg	p.A14T	ASB9_ENST00000380483.3_Missense_Mutation_p.A14T|ASB9_ENST00000380485.3_Missense_Mutation_p.A14T|ASB9_ENST00000380488.4_Missense_Mutation_p.A14T|ASB9_ENST00000473862.1_5'UTR	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	14					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					CTTGGCCCCGCGGGCTTGCTC	0.562													T	15287957	C	T	15287957	3	4	509	1	0	0	0	0	1	0	0	0	1035	768	27	1	901	1	ASB9	23	15287957	Missense_Mutation	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08		15287957	139982603	75	46225											
RPS6KA3	6197	broad.mit.edu	37	chrX	20227405	20227405	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcacacactcatgacttaCctttccaaatgatccctgcc	12	10	4	15	0	1	2	1	2	0	0	3	2	3	2	4	0	3	1	4	0	3	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:20227405C>A	ENST00000379565.3	-	3	451		c.e3+1		RPS6KA3_ENST00000544447.1_Splice_Site|RPS6KA3_ENST00000379548.4_Splice_Site|RPS6KA3_ENST00000540702.1_Splice_Site	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3						axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|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|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						TCATGACTTACCTTTCCAAAT	0.338													A	20227405	C	A	20227405	5	1	509	1	0	0	0	0	0	0	1	0	13743	521	18	4	2058	4	RPS6KA3	23	20227405	Splice_Site	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	4939448	20227405	135043155	76	46226											
PTCHD1	139411	broad.mit.edu	37	chrX	23397847	23397847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagctaaagaatgctcGggccaccaatcggaccaatt	14	6	11	10	2	0	2	0	0	0	2	2	4	0	4	3	3	2	2	3	3	6	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:23397847G>A	ENST00000379361.4	+	2	1351	c.491G>A	c.(490-492)cGg>cAg	p.R164Q		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	164					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						AAGAATGCTCGGGCCACCAAT	0.473													A	23397847	G	A	23397847	3	1	509	1	0	0	0	0	1	0	0	0	12817	1116	39	1	497	1	PTCHD1	23	23397847	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	3170442	23397847	131872713	77	46227											
CCNB3	85417	broad.mit.edu	37	chrX	50054451	50054451	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagtgcatgtgaatctgcTtctgataaacctgtctcacc	9	13	7	12	0	3	2	1	2	3	0	5	2	4	2	3	0	3	2	3	0	3	2			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:50054451T>A	ENST00000376042.1	+	6	3580	c.3282T>A	c.(3280-3282)gcT>gcA	p.A1094A	CCNB3_ENST00000376038.1_Intron|CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Silent_p.A1094A			Q8WWL7	CCNB3_HUMAN	cyclin B3	1094					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGAATCTGCTTCTGATAAAC	0.478													A	50054451	T	A	50054451	2	1	509	1	0	0	0	0	0	0	0	1	2944	1596	56	5		5	CCNB3	23	50054451	Silent	SNP	T	TCGA-FG-A87Q-01A-11D-A36O-08	26656604	50054451	105216109	78	46228											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913359	77913359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctccagaggctcctggggagGtggaagctcaaggaactcta	10	7	14	10	0	2	1	1	0	1	1	4	4	4	4	2	6	2	2	2	6	4	1			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:77913359G>A	ENST00000321110.1	-	2	854	c.559C>T	c.(559-561)Cct>Tct	p.P187S		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	187	Pro-rich.						nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TCCTGGGGAGGTGGAAGCTCA	0.537													A	77913359	G	A	77913359	3	1	509	1	0	0	0	0	1	0	0	0	17692	1261	44	2	872	2	ZCCHC5	23	77913359	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	27858908	77913359	77357201	79	46229											
CHM	1121	broad.mit.edu	37	chrX	85119689	85119689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctttccttgaaagtctcCgagttagcctctggtatggc	6	14	11	10	1	2	1	0	1	2	0	4	2	3	1	3	2	2	3	3	2	3	4			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:85119689C>T	ENST00000357749.2	-	15	1937	c.1908G>A	c.(1906-1908)tcG>tcA	p.S636S	CHM_ENST00000537751.1_Silent_p.S488S|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	636					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				TGAAAGTCTCCGAGTTAGCCT	0.453													T	85119689	C	T	85119689	2	4	509	1	0	0	0	0	0	0	0	1	3380	639	23	1		1	CHM	23	85119689	Silent	SNP	C	TCGA-FG-A87Q-01A-11D-A36O-08	7206330	85119689	70150871	80	46230											
HTR2C	3358	broad.mit.edu	37	chrX	114082601	114082601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctagatatttgtgccccGtctggatttctttagatgtt	7	18	8	8	1	2	2	0	0	2	2	2	3	2	3	3	1	2	1	3	1	4	8			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:114082601G>A	ENST00000276198.1	+	5	1113	c.385G>A	c.(385-387)Gtc>Atc	p.V129I	HTR2C_ENST00000371950.3_Missense_Mutation_p.V129I|HTR2C_ENST00000371951.1_Missense_Mutation_p.V129I	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	129					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	TTTGTGCCCCGTCTGGATTTC	0.408													A	114082601	G	A	114082601	3	1	509	1	0	0	0	0	1	0	0	0	7501	1145	40	1	395	1	HTR2C	23	114082601	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	28962912	114082601	41187959	81	46231											
ATP1B4	23439	broad.mit.edu	37	chrX	119500506	119500506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggaggagaaagaagaggagGaagaggaggaaaaggaggag	20	0	21	0	0	0	4	0	0	0	4	0	12	0	11	0	8	0	0	0	8	5	0			TCGA-FG-A87Q-01A-11D-A36O-08	TCGA-FG-A87Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	11406104-af9c-45bc-9324-b6f689a82f93	db14fd71-55eb-42c0-8b37-55a27f68f7c6	g.chrX:119500506G>A	ENST00000218008.3	+	2	247	c.190G>A	c.(190-192)Gaa>Aaa	p.E64K	ATP1B4_ENST00000539306.1_Missense_Mutation_p.E64K|ATP1B4_ENST00000361319.3_Missense_Mutation_p.E64K	NM_001142447.2	NP_001135919.1	Q9UN42	AT1B4_HUMAN	ATPase, Na+/K+ transporting, beta 4 polypeptide	64	Glu-rich.				ATP biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to plasma membrane|nuclear inner membrane	sodium:potassium-exchanging ATPase activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	33						agaagaggaggaagaggagga	0.527													A	119500506	G	A	119500506	3	1	509	1	0	0	0	0	1	0	0	0	1140	1175	41	2	196	2	ATP1B4	23	119500506	Missense_Mutation	SNP	G	TCGA-FG-A87Q-01A-11D-A36O-08	5417905	119500506	35770054	82	46232											
CD46	4179	broad.mit.edu	37	chr1	207930382	207930382	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgtgaggagccaccaacaTttgaagctatggagctcatt	11	10	10	10	0	1	2	1	2	0	0	1	4	1	4	3	2	4	2	3	2	3	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr1:207930382T>C	ENST00000358170.2	+	2	277	c.121T>C	c.(121-123)Ttt>Ctt	p.F41L	CD46_ENST00000322918.5_Missense_Mutation_p.F41L|CD46_ENST00000367047.1_Intron|CD46_ENST00000361067.1_Missense_Mutation_p.F41L|CD46_ENST00000367042.1_Missense_Mutation_p.F41L|CD46_ENST00000441839.2_Missense_Mutation_p.F41L|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000322875.4_Missense_Mutation_p.F41L|CD46_ENST00000480003.1_Missense_Mutation_p.F41L|CD46_ENST00000354848.1_Missense_Mutation_p.F41L|CD46_ENST00000357714.1_Missense_Mutation_p.F41L|CD46_ENST00000367041.1_Missense_Mutation_p.F41L|CD46_ENST00000360212.2_Missense_Mutation_p.F41L	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	41	Sushi 1.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						GCCACCAACATTTGAAGCTAT	0.413													C	207930382	T	C	207930382	3	2	510	1	0	0	0	0	1	0	0	0	3048	1493	52	3	127	3	CD46	1	207930382	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		207930382	41320239	1	46233											
COL5A2	1290	broad.mit.edu	37	chr2	189927953	189927953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggctgccctctgattcctAtggagcctggaggacctgga	6	9	14	12	1	1	1	0	1	1	0	2	5	2	5	4	5	2	1	4	5	1	2			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:189927953A>G	ENST00000374866.3	-	27	2088	c.1814T>C	c.(1813-1815)aTa>aCa	p.I605T		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	605					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			TCTGATTCCTATGGAGCCTGG	0.512													G	189927953	A	G	189927953	3	3	510	1	0	0	0	0	1	0	0	0	3728	449	16	3	2797	3	COL5A2	2	189927953	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08		189927953	53271420	2	46234											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	510	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	19185159	209113112	34086261	3	46235											
IRS1	3667	broad.mit.edu	37	chr2	227662186	227662186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatccgaggagatgaaaccGccatcgctgggggaaccaga	12	5	13	11	3	1	3	1	1	0	2	3	6	2	4	4	3	2	1	4	3	2	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr2:227662186G>A	ENST00000305123.5	-	1	2289	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		AGATGAAACCGCCATCGCTGG	0.607											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	227662186	G	A	227662186	2	1	510	1	0	0	0	0	0	0	0	1	7898	1074	38	1		1	IRS1	2	227662186	Silent	SNP	G	TCGA-FN-7833-01A-11D-2086-08	18549074	227662186	15537187	4	46236											
RAD54L2	23132	broad.mit.edu	37	chr3	51624506	51624508	+	In_Frame_Del	DEL	GAG	GAG	-																															tggagctggaggatgcggaaGaggaggaggaggaggaggag																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr3:51624506_51624508delGAG	ENST00000409535.2	+	2	195_197	c.70_72delGAG	c.(70-72)gagdel	p.E30del		NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)							nucleus	ATP binding|DNA binding|helicase activity			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ggatgcggaagaggaggaggagg	0.586													-	51624508	GAG	-	51624506	7	5	510	1	0	1	0	1	0	0	0	0	13082	943	33	0	72	0	RAD54L2	3	51624506	In_Frame_Del	DEL	GAG	TCGA-FN-7833-01A-11D-2086-08		51624506	146397924	5	46237											
NIPBL	25836	broad.mit.edu	37	chr5	37044565	37044565	+	Frame_Shift_Del	DEL	G	G	-																															attgaggaagatctaatgaaGctcatcatcaaatatggcat																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr5:37044565delG	ENST00000282516.8	+	35	6724	c.6225delG	c.(6223-6225)aagfs	p.K2075fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2075fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2075					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ATCTAATGAAGCTCATCATCA	0.328													-	37044565	G	-	37044565	7	5	510	1	0	1	0	1	0	0	0	0	10504	962	34	0	6359	0	NIPBL	5	37044565	Frame_Shift_Del	DEL	G	TCGA-FN-7833-01A-11D-2086-08		37044565	143870695	6	46238											
BTN2A1	11120	broad.mit.edu	37	chr6	26458908	26458908	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcccggccagcctcccTcctcctcctcctcctcagcc	2	10	4	25	1	2	0	1	0	1	0	9	0	8	0	10	1	2	0	10	1	0	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:26458908T>C	ENST00000429381.1	+	2	256	c.44T>C	c.(43-45)cTc>cCc	p.L15P	BTN2A1_ENST00000312541.5_Missense_Mutation_p.L15P|BTN2A1_ENST00000541522.1_Intron|BTN2A1_ENST00000469185.1_Missense_Mutation_p.L15P			Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	15					lipid metabolic process	integral to plasma membrane				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CCAGCCTCCCTCCTCCTCCTC	0.582													C	26458908	T	C	26458908	3	2	510	1	0	0	0	0	1	0	0	0	1570	1551	54	3	46	3	BTN2A1	6	26458908	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		26458908	144656159	7	46239											
PRDM1	639	broad.mit.edu	37	chr6	106553131	106553131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggtgtcccctgtgggccccGgctctcaagagcaccgggac	5	6	14	16	3	1	1	1	0	1	1	3	2	2	2	5	4	1	2	5	4	1	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:106553131G>T	ENST00000369096.4	+	5	1330	c.1096G>T	c.(1096-1098)Ggc>Tgc	p.G366C	PRDM1_ENST00000369089.3_Missense_Mutation_p.G232C|PRDM1_ENST00000369091.2_Missense_Mutation_p.G330C	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	366					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		TGTGGGCCCCGGCTCTCAAGA	0.647			"D, N, Mis, F, S"		DLBCL								T	106553131	G	T	106553131	3	4	510	1	0	0	0	0	1	0	0	0	12536	1116	39	4	1127	4	PRDM1	6	106553131	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	80094223	106553131	64561936	8	46240											
KPNA5	3841	broad.mit.edu	37	chr6	117019898	117019898	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaatagatcaagttatacaGaaaccaggagttgtacagag	17	8	9	7	0	1	3	1	0	0	3	1	4	1	4	2	1	3	3	2	1	7	5			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr6:117019898G>C	ENST00000368564.1	+	5	520	c.372G>C	c.(370-372)caG>caC	p.Q124H	KPNA5_ENST00000356348.1_Missense_Mutation_p.Q124H			O15131	IMA5_HUMAN	karyopherin alpha 5 (importin alpha 6)	121					NLS-bearing substrate import into nucleus	cytoplasm|nuclear pore	protein binding|protein transporter activity			breast(6)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0298)|all cancers(137;0.0461)|OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.212)		AAGTTATACAGAAACCAGGAG	0.299													C	117019898	G	C	117019898	3	2	510	1	0	0	0	0	1	0	0	0	8491	933	33	4	390	4	KPNA5	6	117019898	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	10466767	117019898	54095169	9	46241											
ABCA13	154664	broad.mit.edu	37	chr7	48390284	48390284	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accatgcaggcgctggacgcTtccgtttcttgggcagcatc	6	10	12	13	3	1	0	0	0	1	0	3	1	2	1	2	3	2	6	2	3	0	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:48390284T>C	ENST00000435803.1	+	30	10273	c.10249T>C	c.(10249-10251)Ttc>Ctc	p.F3417L		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3417					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CGCTGGACGCTTCCGTTTCTT	0.522													C	48390284	T	C	48390284	3	2	510	1	0	0	0	0	1	0	0	0	31	1609	56	3	10196	3	ABCA13	7	48390284	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		48390284	110748379	10	46242											
TRPV5	56302	broad.mit.edu	37	chr7	142630466	142630466	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcttgtccaggtgctGgtcccagtcttgttctctga	6	14	11	10	0	2	2	0	2	2	0	5	2	4	2	2	2	2	3	2	2	1	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr7:142630466G>T	ENST00000265310.1	-	1	439	c.91C>A	c.(91-93)Cag>Aag	p.Q31K	TRPV5_ENST00000442623.1_Missense_Mutation_p.Q31K	NM_019841.4	NP_062815.2	Q9NQA5	TRPV5_HUMAN	transient receptor potential cation channel, subfamily V, member 5	31					protein tetramerization	apical plasma membrane|integral to plasma membrane	calcium channel activity	p.Q31K(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(14)|lung(32)|ovary(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	67	Melanoma(164;0.059)					TCCAGGTGCTGGTCCCAGTCT	0.567													T	142630466	G	T	142630466	3	4	510	1	0	0	0	0	1	0	0	0	16700	1357	47	4	2158	4	TRPV5	7	142630466	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	94240182	142630466	16508197	11	46243											
ZC3H3	23144	broad.mit.edu	37	chr8	144620440	144620440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaccctggcttggaggacGtggctggcttcctgggcttg	4	10	16	11	1	0	1	0	0	0	1	1	3	1	3	2	6	0	4	2	6	0	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr8:144620440G>A	ENST00000262577.5	-	2	1128	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	366					mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			CTTGGAGGACGTGGCTGGCTT	0.627													A	144620440	G	A	144620440	3	1	510	1	0	0	0	0	1	0	0	0	17670	1145	40	1	1793	1	ZC3H3	8	144620440	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		144620440	1743582	12	46244											
DOCK8	81704	broad.mit.edu	37	chr9	371468	371468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtgaaaattaagctccccGctaagctcacagtaaatcac	16	8	6	11	1	2	1	2	1	0	0	3	1	3	1	2	0	2	4	2	0	7	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr9:371468G>A	ENST00000432829.2	+	17	2021	c.1705G>A	c.(1705-1707)Gct>Act	p.A569T	DOCK8_ENST00000382331.1_Intron|DOCK8_ENST00000453981.1_Missense_Mutation_p.A637T|DOCK8_ENST00000469391.1_Missense_Mutation_p.A569T|DOCK8_ENST00000382329.1_Missense_Mutation_p.A104T	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	637	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TAAGCTCCCCGCTAAGCTCAC	0.418													A	371468	G	A	371468	3	1	510	1	0	0	0	0	1	0	0	0	4732	1087	38	1	1975	1	DOCK8	9	371468	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08		371468	140841963	13	46245											
MBL2	4153	broad.mit.edu	37	chr10	54527961	54527961	+	Frame_Shift_Del	DEL	T	T	-																															ggacgtcattccactggccaTttttcagtagcaatacacaa																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr10:54527961delT	ENST00000373968.3	-	4	747	c.683delA	c.(682-684)aatfs	p.N228fs		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	228	C-type lectin.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						CCACTGGCCATTTTTCAGTAG	0.483													-	54527961	T	-	54527961	7	5	510	1	0	1	0	1	0	0	0	0	9425	1493	52	0	67	0	MBL2	10	54527961	Frame_Shift_Del	DEL	T	TCGA-FN-7833-01A-11D-2086-08		54527961	81006786	14	46246											
OR51F2	119694	broad.mit.edu	37	chr11	4842846	4842846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcctatgtactatttcctCtctatgctttcagccacaga	10	14	5	12	0	2	1	1	0	1	1	4	1	3	1	3	0	4	2	3	0	5	6			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:4842846C>T	ENST00000322110.5	+	1	296	c.231C>T	c.(229-231)ctC>ctT	p.L77L	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		ACTATTTCCTCTCTATGCTTT	0.458													T	4842846	C	T	4842846	2	4	510	1	0	0	0	0	0	0	0	1	11173	900	32	2		2	OR51F2	11	4842846	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		4842846	130163670	15	46247											
EXPH5	23086	broad.mit.edu	37	chr11	108383673	108383673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtgcattttgagtatcaGtcagtgcagagctccagtgg	9	13	12	7	0	2	2	2	1	0	1	3	2	3	2	1	1	3	4	1	1	1	4			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr11:108383673G>A	ENST00000265843.4	-	6	2671	c.2561C>T	c.(2560-2562)aCt>aTt	p.T854I	EXPH5_ENST00000525344.1_Missense_Mutation_p.T847I|EXPH5_ENST00000443411.1_Missense_Mutation_p.T666I|EXPH5_ENST00000428840.1_Missense_Mutation_p.T778I	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	854					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TTGAGTATCAGTCAGTGCAGA	0.403													A	108383673	G	A	108383673	3	1	510	1	0	0	0	0	1	0	0	0	5364	1029	36	2	3412	2	EXPH5	11	108383673	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	103540827	108383673	26622843	16	46248											
CCDC60	160777	broad.mit.edu	37	chr12	119909950	119909950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagatctcagaaatccacTatggggacaccttattgagg	15	9	9	8	0	1	3	1	1	1	2	3	4	2	4	2	3	0	0	2	3	5	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr12:119909950T>C	ENST00000327554.2	+	3	787	c.322T>C	c.(322-324)Tat>Cat	p.Y108H	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	108										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		AGAAATCCACTATGGGGACAC	0.448													C	119909950	T	C	119909950	3	2	510	1	0	0	0	0	1	0	0	0	2859	1522	53	3	332	3	CCDC60	12	119909950	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08		119909950	13941945	17	46249											
TPSAB1	7177	broad.mit.edu	37	chr16	1291161	1291161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcacctgccccagccccaggCcaggccctgcagcgagtggg	6	3	14	18	1	0	0	0	0	0	0	0	1	0	0	7	3	4	2	7	3	0	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1291161C>T	ENST00000461509.2	+	2	284	c.90C>T	c.(88-90)ggC>ggT	p.G30G	TPSAB1_ENST00000338844.3_Silent_p.G23G			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	23					proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				CAGCCCCAGGCCAGGCCCTGC	0.716													T	1291161	C	T	1291161	2	4	510	1	0	0	0	0	0	0	0	1	16524	726	26	2		2	TPSAB1	16	1291161	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1291161	89063592	18	46250											
IFT140	9742	broad.mit.edu	37	chr16	1634358	1634358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtgtgacgacatggcccGctcgctgaggatggccacgg	8	6	16	11	4	0	2	0	2	0	0	1	5	0	3	2	4	0	2	2	4	1	0			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1634358G>A	ENST00000426508.2	-	11	1582	c.1219C>T	c.(1219-1221)Cgg>Tgg	p.R407W	LA16c-395F10.2_ENST00000563162.1_RNA|IFT140_ENST00000439987.2_5'UTR	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	407										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GACATGGCCCGCTCGCTGAGG	0.587													A	1634358	G	A	1634358	3	1	510	1	0	0	0	0	1	0	0	0	7614	1086	38	1	3253	1	IFT140	16	1634358	Missense_Mutation	SNP	G	TCGA-FN-7833-01A-11D-2086-08	343197	1634358	88720395	19	46251											
FAHD1	81889	broad.mit.edu	37	chr16	1877307	1877307	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcgtctgcgtggggaggaActacgcggaccacgtcaggg	8	6	16	11	5	2	0	1	0	1	0	3	3	2	3	1	5	3	0	1	5	2	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr16:1877307A>T	ENST00000382666.4	+	1	340	c.77A>T	c.(76-78)aAc>aTc	p.N26I	FAHD1_ENST00000427358.2_Missense_Mutation_p.N26I|FAHD1_ENST00000382668.4_Missense_Mutation_p.N26I	NM_001018104.2	NP_001018114.1	Q6P587	FAHD1_HUMAN	fumarylacetoacetate hydrolase domain containing 1	26						mitochondrion	hydrolase activity|metal ion binding|protein binding			NS(1)|large_intestine(1)|liver(1)|ovary(2)|urinary_tract(1)	6						GTGGGGAGGAACTACGCGGAC	0.642													T	1877307	A	T	1877307	3	4	510	1	0	0	0	0	1	0	0	0	5417	43	2	5	79	5	FAHD1	16	1877307	Missense_Mutation	SNP	A	TCGA-FN-7833-01A-11D-2086-08	242949	1877307	88477446	20	46252											
PRPF8	10594	broad.mit.edu	37	chr17	1557307	1557307	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtgtcagtgatgccacgttCacactgtggggatggtgtgg	6	12	16	7	1	2	1	2	1	0	0	2	2	2	2	1	4	1	1	1	4	0	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:1557307C>T	ENST00000572621.1	-	37	6256	c.5991G>A	c.(5989-5991)gtG>gtA	p.V1997V	PRPF8_ENST00000304992.6_Silent_p.V1997V			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	1997	Involved in interaction with pre-mRNA 5' splice site.					catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		ATGCCACGTTCACACTGTGGG	0.517													T	1557307	C	T	1557307	2	4	510	1	0	0	0	0	0	0	0	1	12661	813	29	2		2	PRPF8	17	1557307	Silent	SNP	C	TCGA-FN-7833-01A-11D-2086-08		1557307	79637903	21	46253											
TP53	7157	broad.mit.edu	37	chr17	7577099	7577099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctctgtgcgccggtctCtcccaggacaggcacaaaca	8	8	9	16	2	2	0	0	0	2	0	5	1	4	1	3	3	2	1	3	3	1	1	rs121912660		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7577099C>T	ENST00000420246.2	-	8	971	c.839G>A	c.(838-840)aGa>aAa	p.R280K	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R280K|TP53_ENST00000455263.2_Missense_Mutation_p.R280K|TP53_ENST00000445888.2_Missense_Mutation_p.R280K|TP53_ENST00000359597.4_Missense_Mutation_p.R280K	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	280	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in sporadic cancers; somatic mutation).|R -> K (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> 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.R280T(65)|p.R280K(49)|p.R280I(16)|p.0?(8)|p.?(2)|p.R280_D281delRD(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.D281fs*24(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCGCCGGTCTCTCCCAGGACA	0.542		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)			T	7577099	C	T	7577099	3	4	510	1	0	0	0	0	1	0	0	0	16482	913	32	2	447	2	TP53	17	7577099	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	6019792	7577099	73618111	22	46254											
TP53	7157	broad.mit.edu	37	chr17	7578474	7578475	+	Frame_Shift_Ins	INS	-	-	GG																															cgcggacgcgggtgccgggcINSgggggtgtggaatcaaccca																								rs137852790		TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:7578474_7578475insGG	ENST00000420246.2	-	5	587_588	c.455_456insCC	c.(454-456)ccgfs	p.P152fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.P152fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.P152fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.P152fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P152L(66)|p.P153fs*28(9)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.P152P(5)|p.?(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.G154fs*16(1)|p.P152fs*27(1)|p.P20R(1)|p.P59R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.P153fs*20(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.G154fs*27(1)|p.P152_P153insXXX(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGGTGCCGGGCGGGGGTGTGGA	0.614		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)			GG	7578475	-	GG	7578474	7	5	510	1	0	1	1	0	0	0	0	0	16482	755	27	0	842	0	TP53	17	7578474	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08	1375	7578474	73616736	23	46255											
MYO15A	51168	broad.mit.edu	37	chr17	18024582	18024582	+	Frame_Shift_Del	DEL	C	C	-																															gccccgctcgctgcaggagtCcccagccccacgccgagccg																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:18024582delC	ENST00000205890.5	+	2	2806	c.2468delC	c.(2467-2469)tccfs	p.S823fs		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	823	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CTGCAGGAGTCCCCAGCCCCA	0.801													-	18024582	C	-	18024582	7	5	510	1	0	1	0	1	0	0	0	0	10139	855	30	0	2470	0	MYO15A	17	18024582	Frame_Shift_Del	DEL	C	TCGA-FN-7833-01A-11D-2086-08	10446108	18024582	63170628	24	46256											
SPOP	8405	broad.mit.edu	37	chr17	47688737	47688737	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacagtcctcctaactcaTctgccagccggcactcagga	9	7	7	18	1	3	0	2	0	1	0	5	1	5	1	5	2	3	1	5	2	1	1			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr17:47688737T>G	ENST00000393331.3	-	8	1033	c.563A>C	c.(562-564)gAt>gCt	p.D188A	SPOP_ENST00000503676.1_Missense_Mutation_p.D188A|SPOP_ENST00000393328.2_Missense_Mutation_p.D188A|SPOP_ENST00000347630.2_Missense_Mutation_p.D188A|SPOP_ENST00000504102.1_Missense_Mutation_p.D188A	NM_001007226.1|NM_001007227.1	NP_001007227.1|NP_001007228.1	O43791	SPOP_HUMAN	speckle-type POZ protein	188	BTB.|Required for nuclear localization.				mRNA processing	nucleus	protein binding			endometrium(18)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(3)|prostate(33)	63						TCCTAACTCATCTGCCAGCCG	0.502										Prostate(2;0.17)			G	47688737	T	G	47688737	3	3	510	1	0	0	0	0	1	0	0	0	15180	1435	50	5	581	5	SPOP	17	47688737	Missense_Mutation	SNP	T	TCGA-FN-7833-01A-11D-2086-08	29664155	47688737	33506473	25	46257											
CABLES1	91768	broad.mit.edu	37	chr18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-																															agggcggcgcggccaagccgGgcgccggcggcgcctgcggc																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_ENST00000400473.2_Intron	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7 (By similarity).				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785													-	20716023	GGCGCCGGC	-	20716015	7	5	510	1	0	1	0	1	0	0	0	0	2555	1232	43	0	291	0	CABLES1	18	20716015	In_Frame_Del	DEL	GGCGCCGGC	TCGA-FN-7833-01A-11D-2086-08		20716015	57361233	26	46258											
OR1M1	125963	broad.mit.edu	37	chr19	9204306	9204306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgtggccatctgccaccCattgcactacgccaagatca	9	9	8	15	2	2	1	1	0	1	1	3	1	2	1	4	1	3	2	4	1	2	3			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chr19:9204306C>T	ENST00000429566.3	+	1	452	c.386C>T	c.(385-387)cCa>cTa	p.P129L		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						ATCTGCCACCCATTGCACTAC	0.552													T	9204306	C	T	9204306	3	4	510	1	0	0	0	0	1	0	0	0	11044	594	21	2	388	2	OR1M1	19	9204306	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08		9204306	49924677	27	46259											
ATRX	546	broad.mit.edu	37	chrX	76855018	76855019	+	Frame_Shift_Ins	INS	-	-	T																															cttccacttgagctactatcINSttttttcccctttttccctt																										TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:76855018_76855019insT	ENST00000373344.5	-	25	6031_6032	c.5817_5818insA	c.(5815-5820)aaagatfs	p.D1940fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D1902fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1940					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)	GAGCTACTATCTTTTTTCCCCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76855019	-	T	76855018	7	5	510	1	0	1	1	0	0	0	0	0	1213	913	32	0	1704	0	ATRX	23	76855018	Frame_Shift_Ins	INS	-	TCGA-FN-7833-01A-11D-2086-08		76855018	78415542	28	46260											
COL4A5	1287	broad.mit.edu	37	chrX	107821211	107821211	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccaccaggacttccaggAcctaaggtaattttcttttt	9	14	8	10	0	1	0	0	0	1	0	3	2	3	2	4	4	0	1	4	4	2	7			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:107821211A>T	ENST00000328300.6	+	11	883	c.639A>T	c.(637-639)ggA>ggT	p.G213G	COL4A5_ENST00000361603.2_Silent_p.G213G	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	213	Triple-helical region.				axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						GACTTCCAGGACCTAAGGTAA	0.328									Alport syndrome with Diffuse Leiomyomatosis				T	107821211	A	T	107821211	2	4	510	1	0	0	0	0	0	0	0	1	3725	262	10	5		5	COL4A5	23	107821211	Silent	SNP	A	TCGA-FN-7833-01A-11D-2086-08	30966193	107821211	47449349	29	46261											
THOC2	57187	broad.mit.edu	37	chrX	122758005	122758005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatcaaatccagttgccCgtaatatggtaaggaatcct	13	10	7	11	1	1	0	1	0	0	0	3	1	3	1	4	2	1	3	4	2	5	4			TCGA-FN-7833-01A-11D-2086-08	TCGA-FN-7833-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b92a3aa1-9c8f-428d-bee4-7e91682da52a	39f82bc3-4c0e-4247-a89e-a5eea762150a	g.chrX:122758005C>T	ENST00000245838.8	-	27	3255	c.3224G>A	c.(3223-3225)cGg>cAg	p.R1075Q	THOC2_ENST00000491737.1_Missense_Mutation_p.R960Q|THOC2_ENST00000355725.4_Missense_Mutation_p.R1075Q	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1075					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						TCCAGTTGCCCGTAATATGGT	0.328													T	122758005	C	T	122758005	3	4	510	1	0	0	0	0	1	0	0	0	15965	652	23	1	1605	1	THOC2	23	122758005	Missense_Mutation	SNP	C	TCGA-FN-7833-01A-11D-2086-08	14936794	122758005	32512555	30	46262											
PADI2	11240	broad.mit.edu	37	chr1	17413096	17413096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaaacagaggccttccaCgaagaacagcagctccgcgg	12	3	14	12	3	0	2	0	0	0	2	2	4	2	3	3	4	4	2	3	4	3	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:17413096C>T	ENST00000375486.4	-	7	817	c.754G>A	c.(754-756)Gtg>Atg	p.V252M	PADI2_ENST00000444885.2_Silent_p.S170S|PADI2_ENST00000375481.1_Missense_Mutation_p.V252M	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	252					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	AGGCCTTCCACGAAGAACAGC	0.617													T	17413096	C	T	17413096	3	4	511	1	0	0	0	0	1	0	0	0	11454	536	19	1	1283	1	PADI2	1	17413096	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17413096	231837525	1	46263											
DMBX1	127343	broad.mit.edu	37	chr1	46976279	46976279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actacccagatgtggtgatgCgtgagaggctggccatgtgc	8	9	15	9	1	0	3	0	2	0	2	0	4	0	3	2	3	3	1	2	3	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:46976279C>T	ENST00000371956.4	+	2	316	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	DMBX1_ENST00000360032.3_Missense_Mutation_p.R96C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	101	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					TGTGGTGATGCGTGAGAGGCT	0.602													T	46976279	C	T	46976279	3	4	511	1	0	0	0	0	1	0	0	0	4617	768	27	1	307	1	DMBX1	1	46976279	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	29563183	46976279	202274342	2	46264											
FUBP1	8880	broad.mit.edu	37	chr1	78435640	78435640	+	Nonsense_Mutation	SNP	A	A	C																															aaaggtcttttttgtcccccAtaaccatagtcatttgaatt																										TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435640A>C	ENST00000370767.1	-	2	267	c.180T>G	c.(178-180)taT>taG	p.Y60*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Y60*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Y60*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	60					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTTGTCCCCCATAACCATAGT	0.303			"F, N"		oligodendroglioma								C	78435640	A	C	78435640	4	2	511	1	0	0	0	0	0	1	0	0	6144	224	8	5	1830	5	FUBP1	1	78435640	Nonsense_Mutation	SNP	A	TCGA-HT-7467-01A-11D-2024-08	31459361	78435640	170814981	3	46265	152	2									
FUBP1	8880	broad.mit.edu	37	chr1	78435643	78435643	+	Silent	SNP	A	A	C																															ggtcttttttgtcccccataAccatagtcatttgaattcag																										TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:78435643A>C	ENST00000370767.1	-	2	264	c.177T>G	c.(175-177)ggT>ggG	p.G59G	FUBP1_ENST00000436586.2_Silent_p.G59G|FUBP1_ENST00000370768.2_Silent_p.G59G			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	59					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCCCCATAACCATAGTCAT	0.308			"F, N"		oligodendroglioma								C	78435643	A	C	78435643	2	2	511	1	0	0	0	0	0	0	0	1	6144	30	2	5		5	FUBP1	1	78435643	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08	3	78435643	170814978	4	46266	152	2									
EDEM3	80267	broad.mit.edu	37	chr1	184723669	184723669	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggctcggcccccgccgTccacacggaggtggccgaca	6	4	14	17	5	0	0	0	0	0	0	2	2	1	1	5	5	0	1	5	5	0	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:184723669T>C	ENST00000318130.8	-	1	378	c.112A>G	c.(112-114)Acg>Gcg	p.T38A	EDEM3_ENST00000367512.3_5'UTR	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	38					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCCCCCGCCGTCCACACGGAG	0.692													C	184723669	T	C	184723669	3	2	511	1	0	0	0	0	1	0	0	0	4952	1667	58	3	2766	3	EDEM3	1	184723669	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	106288026	184723669	64526952	5	46267											
PLA2G4A	5321	broad.mit.edu	37	chr1	186863284	186863284	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaactctagggacagcaacaTttactgtatcttctatgaag	14	12	7	8	0	3	1	0	1	3	0	3	2	3	2	0	1	4	2	0	1	7	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:186863284T>G	ENST00000367466.3	+	5	471	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	PLA2G4A_ENST00000466600.1_3'UTR|PLA2G4A_ENST00000442353.2_Missense_Mutation_p.F107V	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	107	Phospholipid binding (Probable).				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	GACAGCAACATTTACTGTATC	0.333													G	186863284	T	G	186863284	3	3	511	1	0	0	0	0	1	0	0	0	12078	1493	52	5	333	5	PLA2G4A	1	186863284	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2139615	186863284	62387337	6	46268											
EPHX1	2052	broad.mit.edu	37	chr1	226032903	226032903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttgagctattgcacaCgcctgaaaagtgggtgaggt	9	11	12	9	1	0	3	0	3	0	0	0	3	0	3	2	2	2	2	2	2	3	4	rs45495897	byFrequency	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:226032903C>T	ENST00000366837.4	+	9	1419	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	EPHX1_ENST00000272167.5_Missense_Mutation_p.T408M|RP11-285F7.2_ENST00000424332.1_RNA	NM_000120.3	NP_000111.1	P07099	HYEP_HUMAN	epoxide hydrolase 1, microsomal (xenobiotic)	408			T -> M (in dbSNP:rs45495897).		aromatic compound catabolic process|response to toxin	endoplasmic reticulum membrane|integral to membrane|microsome	cis-stilbene-oxide hydrolase activity|epoxide hydrolase activity	p.T408K(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(7)|ovary(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.197)					CTATTGCACACGCCTGAAAAG	0.567													T	226032903	C	T	226032903	3	4	511	1	0	0	0	0	1	0	0	0	5220	536	19	1	1253	1	EPHX1	1	226032903	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	39169619	226032903	23217718	7	46269											
TRIM58	25893	broad.mit.edu	37	chr1	248028032	248028032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtggaaatgcagaggcagcGcttcagattggagtttgaga	12	9	15	5	1	1	3	1	1	0	3	1	6	1	5	0	3	2	4	0	3	1	3	rs147592698	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr1:248028032G>A	ENST00000366481.3	+	3	590	c.542G>A	c.(541-543)cGc>cAc	p.R181H		NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	181						intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CAGAGGCAGCGCTTCAGATTG	0.592													A	248028032	G	A	248028032	3	1	511	1	0	0	0	0	1	0	0	0	16632	1087	38	1	552	1	TRIM58	1	248028032	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	21995129	248028032	1222589	8	46270											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	511	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		209113112	34086261	9	46271											
SPEG	10290	broad.mit.edu	37	chr2	220349218	220349219	+	Frame_Shift_Del	DEL	CT	CT	-																															agcgcagccgcgagtcgcccCtgtcgctggggctgcggctg																										TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr2:220349218_220349219delCT	ENST00000312358.7	+	30	7165_7166	c.7033_7034delCT	c.(7033-7035)ctgfs	p.L2345fs	SPEG_ENST00000485813.1_3'UTR|AC053503.11_ENST00000429882.1_RNA	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	2345	Arg-rich.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CGAGTCGCCCCTGTCGCTGGGG	0.698													-	220349219	CT	-	220349218	7	5	511	1	0	1	0	1	0	0	0	0	15132	680	24	0	7163	0	SPEG	2	220349218	Frame_Shift_Del	DEL	CT	TCGA-HT-7467-01A-11D-2024-08	11236106	220349218	22850155	10	46272											
CCDC158	339965	broad.mit.edu	37	chr4	77317545	77317545	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagttccacttcatatttAgggaaaaaaggaacctgtgt	14	12	8	7	0	2	0	2	0	0	0	3	2	3	2	2	2	1	1	2	2	7	5			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:77317545A>G	ENST00000388914.3	-	3	317	c.165T>C	c.(163-165)ccT>ccC	p.P55P	CCDC158_ENST00000434846.2_Silent_p.P55P|CCDC158_ENST00000504868.1_5'UTR	NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	55										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						CTTCATATTTAGGGAAAAAAG	0.358													G	77317545	A	G	77317545	2	3	511	1	0	0	0	0	0	0	0	1	2817	407	15	3		3	CCDC158	4	77317545	Silent	SNP	A	TCGA-HT-7467-01A-11D-2024-08		77317545	113836731	11	46273											
RAPGEF2	9693	broad.mit.edu	37	chr4	160251116	160251116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttatggtgaaagaacaccGagaacttgatcgaactggaa	15	9	11	6	2	0	4	0	2	0	2	1	7	0	5	1	2	3	1	1	2	6	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr4:160251116G>A	ENST00000264431.4	+	6	1192	c.773G>A	c.(772-774)cGa>cAa	p.R258Q		NM_014247.2	NP_055062.1	Q9Y4G8	RPGF2_HUMAN	Rap guanine nucleotide exchange factor (GEF) 2	258					cAMP-mediated signaling|MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|Rap GTPase activator activity|Rap guanyl-nucleotide exchange factor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	70	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.0817)		AAAGAACACCGAGAACTTGAT	0.413													A	160251116	G	A	160251116	3	1	511	1	0	0	0	0	1	0	0	0	13132	1058	37	1	795	1	RAPGEF2	4	160251116	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	82933571	160251116	30903160	12	46274											
SLCO4C1	353189	broad.mit.edu	37	chr5	101592891	101592891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acataaatacaaaactcagcGtaagtgcaactccagatgtg	17	8	7	9	1	1	1	1	0	0	1	2	1	2	1	1	0	5	2	1	0	7	3	rs145600550		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr5:101592891G>A	ENST00000310954.6	-	8	1683	c.1397C>T	c.(1396-1398)aCg>aTg	p.T466M		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	466					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		AAAACTCAGCGTAAGTGCAAC	0.353													A	101592891	G	A	101592891	3	1	511	1	0	0	0	0	1	0	0	0	14824	1145	40	1	801	1	SLCO4C1	5	101592891	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		101592891	79322369	13	46275											
GPR110	266977	broad.mit.edu	37	chr6	46977421	46977421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataggtgatccattttacaaCggggaagattgtagagggga	13	10	14	4	1	0	3	0	1	0	2	1	5	1	5	1	5	2	1	1	5	5	5			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr6:46977421C>T	ENST00000371253.2	-	11	1965	c.1750G>A	c.(1750-1752)Gtt>Att	p.V584I	GPR110_ENST00000449332.2_5'UTR|GPR110_ENST00000283297.5_Missense_Mutation_p.V387I	NM_153840.2	NP_722582.2	Q5T601	GP110_HUMAN	G protein-coupled receptor 110	584					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(2)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	29						CATTTTACAACGGGGAAGATT	0.428													T	46977421	C	T	46977421	3	4	511	1	0	0	0	0	1	0	0	0	6681	536	19	1	1002	1	GPR110	6	46977421	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		46977421	124137646	14	46276											
DOCK5	80005	broad.mit.edu	37	chr8	25181376	25181376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttcagccagagataaatCggagcgagcatttggggtgg	10	10	14	7	2	1	1	1	0	0	1	2	4	1	2	1	4	3	1	1	4	2	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:25181376C>T	ENST00000276440.7	+	17	1672	c.1628C>T	c.(1627-1629)tCg>tTg	p.S543L		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	543	DHR-1.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		AGAGATAAATCGGAGCGAGCA	0.532													T	25181376	C	T	25181376	3	4	511	1	0	0	0	0	1	0	0	0	4729	893	31	1	1694	1	DOCK5	8	25181376	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		25181376	121182646	15	46277											
UBXN8	7993	broad.mit.edu	37	chr8	30601805	30601805	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggatataggtaagtgtgaCtttttcccttcgacagtcac	9	13	9	10	2	1	1	1	1	0	0	3	3	2	2	2	2	0	1	2	2	3	6	rs2278092	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:30601805C>T	ENST00000519246.1	+	0	115							O00124	UBXN8_HUMAN	UBX domain protein 8						single fertilization					central_nervous_system(1)|lung(2)	3						GTAAGTGTGACTTTTTCCCTT	0.532													T	30601805	C	T	30601805	1	4	511	0	1	0	0	0	0	0	0	0	17021	580	20	2		2	UBXN8	8	30601805	RNA	SNP	C	TCGA-HT-7467-01A-11D-2024-08	5420429	30601805	115762217	16	46278											
UBR5	51366	broad.mit.edu	37	chr8	103297901	103297901	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgcagatgttaggtaactgCtggcgttgctagcttccaaa	9	13	11	8	1	0	1	0	0	0	1	1	1	1	1	1	2	5	7	1	2	4	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:103297901C>T	ENST00000520539.1	-	39	5930	c.5324G>A	c.(5323-5325)aGc>aAc	p.S1775N	UBR5_ENST00000521922.1_Missense_Mutation_p.S1769N|UBR5_ENST00000220959.4_Missense_Mutation_p.S1775N	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	1775					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)			TAGGTAACTGCTGGCGTTGCT	0.463													T	103297901	C	T	103297901	3	4	511	1	0	0	0	0	1	0	0	0	17007	797	28	2	3159	2	UBR5	8	103297901	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	72696096	103297901	43066121	17	46279											
SLC30A8	169026	broad.mit.edu	37	chr8	118170064	118170064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgatcatcgtttccagctgcGcagtggcggccaacattgtg	7	11	12	11	3	1	1	1	1	0	0	3	1	2	1	2	2	3	3	2	2	1	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:118170064G>A	ENST00000427715.2	+	7	840	c.406G>A	c.(406-408)Gca>Aca	p.A136T	SLC30A8_ENST00000519688.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000521243.1_Missense_Mutation_p.A136T|SLC30A8_ENST00000456015.2_Missense_Mutation_p.A185T	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	185					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			TTCCAGCTGCGCAGTGGCGGC	0.527													A	118170064	G	A	118170064	3	1	511	1	0	0	0	0	1	0	0	0	14655	1087	38	1	567	1	SLC30A8	8	118170064	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	14872163	118170064	28193958	18	46280											
ENPP2	5168	broad.mit.edu	37	chr8	120628508	120628508	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaatgcaaaacttaccggTtgacctccccaccatctatg	13	10	5	13	1	1	1	0	1	1	0	2	1	2	1	5	1	3	2	5	1	6	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr8:120628508T>A	ENST00000427067.2	-	8	942	c.762A>T	c.(760-762)caA>caT	p.Q254H	ENPP2_ENST00000259486.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000075322.6_Missense_Mutation_p.Q258H|ENPP2_ENST00000522826.1_Missense_Mutation_p.Q258H			Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	258	Substrate binding (By similarity).				cellular component movement|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|phosphate metabolic process|phosphatidylcholine catabolic process|regulation of cell migration	extracellular space|integral to plasma membrane	alkylglycerophosphoethanolamine phosphodiesterase activity|calcium ion binding|lysophospholipase activity|nucleic acid binding|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity|transcription factor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AACTTACCGGTTGACCTCCCC	0.378													A	120628508	T	A	120628508	3	1	511	1	0	0	0	0	1	0	0	0	5171	1722	60	5	2128	5	ENPP2	8	120628508	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08	2458444	120628508	25735514	19	46281											
FAM154A	158297	broad.mit.edu	37	chr9	18928829	18928829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacaaagcgcttctccaCggggtgggccacatagctca	10	7	11	13	2	2	0	1	0	1	0	3	0	2	0	2	3	3	3	2	3	2	2	rs117915008	by1000genomes	TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr9:18928829C>T	ENST00000380534.4	-	4	925	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	FAM154A_ENST00000542071.1_Missense_Mutation_p.V24M|FAM154A_ENST00000380530.1_3'UTR	NM_153707.2	NP_714918.2	Q8IYX7	F154A_HUMAN	family with sequence similarity 154, member A	216										breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(1)|skin(1)	26				GBM - Glioblastoma multiforme(50;6.53e-16)		CGCTTCTCCACGGGGTGGGCC	0.507													T	18928829	C	T	18928829	3	4	511	1	0	0	0	0	1	0	0	0	5508	536	19	1	782	1	FAM154A	9	18928829	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		18928829	122284602	20	46282											
ARMC3	219681	broad.mit.edu	37	chr10	23248333	23248333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttttgatacacagaagaaGtagttatccatgagtttgct	13	15	8	5	0	0	4	0	2	0	2	1	4	1	4	1	0	2	4	1	0	5	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:23248333G>C	ENST00000298032.5	+	6	451	c.367G>C	c.(367-369)Gta>Cta	p.V123L	ARMC3_ENST00000409983.3_Missense_Mutation_p.V123L|ARMC3_ENST00000464017.1_3'UTR|ARMC3_ENST00000376528.4_Intron|ARMC3_ENST00000409049.3_Missense_Mutation_p.V123L	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	123							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CACAGAAGAAGTAGTTATCCA	0.363													C	23248333	G	C	23248333	3	2	511	1	0	0	0	0	1	0	0	0	957	1029	36	4	385	4	ARMC3	10	23248333	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23248333	112286414	21	46283											
ANKRD30A	91074	broad.mit.edu	37	chr10	37442521	37442521	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgtgagactgtttcaCagaaggatgtgtgtttaccc	8	14	11	8	0	2	2	1	1	1	2	3	4	2	3	1	1	1	2	1	1	2	3			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr10:37442521C>A	ENST00000374660.1	+	13	1660	c.1561C>A	c.(1561-1563)Cag>Aag	p.Q521K	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.Q521K|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.Q521K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	577						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGTTTCACAGAAGGATGT	0.274													A	37442521	C	A	37442521	3	1	511	1	0	0	0	0	1	0	0	0	658	479	17	4	1611	4	ANKRD30A	10	37442521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	14194188	37442521	98092226	22	46284											
OR5A1	219982	broad.mit.edu	37	chr11	59211138	59211138	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctgatccaggccagctccaTatttaggcttcacttttgcg	7	13	8	13	1	1	1	1	1	0	0	3	1	3	1	4	2	2	2	4	2	2	6			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:59211138T>C	ENST00000302030.2	+	1	522	c.497T>C	c.(496-498)aTa>aCa	p.I166T		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						GCCAGCTCCATATTTAGGCTT	0.542													C	59211138	T	C	59211138	3	2	511	1	0	0	0	0	1	0	0	0	11215	1406	49	3	499	3	OR5A1	11	59211138	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		59211138	75795378	23	46285											
CHRM1	1128	broad.mit.edu	37	chr11	62677198	62677198	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaggggactatcagcattGgcgggagggagtgcggtgca	9	6	20	6	2	1	1	1	0	0	1	1	5	1	4	0	6	3	2	0	6	1	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr11:62677198G>A	ENST00000306960.3	-	2	1916	c.1375C>T	c.(1375-1377)Caa>Taa	p.Q459*	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	459					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	TATCAGCATTGGCGGGAGGGA	0.682													A	62677198	G	A	62677198	4	1	511	1	0	0	0	0	0	1	0	0	3406	1357	47	2	11	2	CHRM1	11	62677198	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	3466060	62677198	72329318	24	46286											
AKAP3	10566	broad.mit.edu	37	chr12	4737521	4737521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcctggaacatgcagagaCggtctcattcacaagctctg	11	10	9	11	1	3	1	2	0	2	1	5	3	4	2	1	2	3	2	1	2	2	2	rs140759485		TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:4737521C>T	ENST00000545990.2	-	5	1071	c.547G>A	c.(547-549)Gtc>Atc	p.V183I	AKAP3_ENST00000228850.1_Missense_Mutation_p.V183I|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	183					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						CATGCAGAGACGGTCTCATTC	0.478													T	4737521	C	T	4737521	3	4	511	1	0	0	0	0	1	0	0	0	452	536	19	1	2022	1	AKAP3	12	4737521	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		4737521	129114374	25	46287											
ANAPC5	51433	broad.mit.edu	37	chr12	121769171	121769171	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagtgctggagacacacGtgatcgttggactcctgggc	10	8	13	10	2	0	2	0	1	0	1	2	4	1	3	1	3	2	2	1	3	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr12:121769171G>A	ENST00000535482.1	-	0	23				ANAPC5_ENST00000261819.3_Silent_p.H337H|ANAPC5_ENST00000344395.4_Silent_p.H238H|ANAPC5_ENST00000541887.1_Silent_p.H337H|ANAPC5_ENST00000441917.2_Silent_p.H238H|ANAPC5_ENST00000544314.1_Intron|ANAPC5_ENST00000536366.1_Intron			Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GGAGACACACGTGATCGTTGG	0.488													A	121769171	G	A	121769171	1	1	511	1	0	0	0	0	0	0	0	0	605	1136	40	1		1	ANAPC5	12	121769171	Translation_Start_Site	SNP	G	TCGA-HT-7467-01A-11D-2024-08	117031650	121769171	12082724	26	46288											
COL4A1	1282	broad.mit.edu	37	chr13	110813712	110813712	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggcagctgccggcCgtgcctagacaaggaagaag	10	5	15	11	3	0	2	0	0	0	2	0	3	0	3	3	3	4	3	3	3	4	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr13:110813712C>T	ENST00000375820.4	-	49	4588	c.4467G>A	c.(4465-4467)acG>acA	p.T1489T	COL4A1_ENST00000467182.1_5'UTR	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	1489	Collagen IV NC1.				angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			AGCTGCCGGCCGTGCCTAGAC	0.438													T	110813712	C	T	110813712	2	4	511	1	0	0	0	0	0	0	0	1	3720	639	23	1		1	COL4A1	13	110813712	Silent	SNP	C	TCGA-HT-7467-01A-11D-2024-08		110813712	4356166	27	46289											
REM2	161253	broad.mit.edu	37	chr14	23354154	23354154	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctagtgggggagagcggcgtGggcaagagcaccctagcagg	9	4	19	9	2	0	2	0	0	0	2	0	3	0	2	1	5	3	3	1	5	3	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:23354154G>A	ENST00000267396.4	+	2	498	c.375G>A	c.(373-375)gtG>gtA	p.V125V	REM2_ENST00000536884.1_Silent_p.V125V	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	125					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		AGAGCGGCGTGGGCAAGAGCA	0.607													A	23354154	G	A	23354154	2	1	511	1	0	0	0	0	0	0	0	1	13311	1335	47	2		2	REM2	14	23354154	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		23354154	83995386	28	46290											
AP1G2	8906	broad.mit.edu	37	chr14	24035874	24035874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgaatctggaggaggCgatcagtttcaggcactcca	9	10	13	9	1	4	1	2	1	2	0	5	4	5	3	1	4	0	2	1	4	1	1			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr14:24035874C>T	ENST00000308724.5	-	2	981	c.226G>A	c.(226-228)Gcc>Acc	p.A76T	AP1G2_ENST00000556277.1_5'UTR|RP11-66N24.3_ENST00000555968.1_RNA|AP1G2_ENST00000397120.3_Missense_Mutation_p.A76T	NM_003917.2	NP_003908.1	O75843	AP1G2_HUMAN	adaptor-related protein complex 1, gamma 2 subunit	76					interspecies interaction between organisms|intracellular protein transport|vesicle-mediated transport	AP-1 adaptor complex|endosome membrane	protein binding|protein transporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	28	all_cancers(95;0.000251)			GBM - Glioblastoma multiforme(265;0.00672)		CTGGAGGAGGCGATCAGTTTC	0.527													T	24035874	C	T	24035874	3	4	511	1	0	0	0	0	1	0	0	0	735	768	27	1	2211	1	AP1G2	14	24035874	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08	681720	24035874	83313666	29	46291											
SLC43A2	124935	broad.mit.edu	37	chr17	1516558	1516558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcgatgaagatgagcacGgagagagctgcagggacatg	13	4	18	6	2	0	4	0	2	0	2	0	8	0	6	0	3	3	3	0	3	1	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr17:1516558G>A	ENST00000301335.5	-	5	520	c.432C>T	c.(430-432)tcC>tcT	p.S144S	SLC43A2_ENST00000571650.1_Silent_p.S144S|SLC43A2_ENST00000382147.4_Silent_p.S144S	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2						cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		AGATGAGCACGGAGAGAGCTG	0.552													A	1516558	G	A	1516558	2	1	511	1	0	0	0	0	0	0	0	1	14727	1103	39	1		1	SLC43A2	17	1516558	Silent	SNP	G	TCGA-HT-7467-01A-11D-2024-08		1516558	79678652	30	46292											
LAMA3	3909	broad.mit.edu	37	chr18	21364088	21364088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctcgatgtgatacctgcCgctctggtttctactcattc	5	14	8	14	2	3	1	1	1	2	0	5	2	3	1	3	1	3	2	3	1	2	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr18:21364088C>T	ENST00000313654.9	+	12	1811	c.1570C>T	c.(1570-1572)Cgc>Tgc	p.R524C	LAMA3_ENST00000399516.3_Missense_Mutation_p.R524C	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	524	Domain V.|Laminin EGF-like 4.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TGATACCTGCCGCTCTGGTTT	0.498													T	21364088	C	T	21364088	3	4	511	1	0	0	0	0	1	0	0	0	8666	652	23	1	1616	1	LAMA3	18	21364088	Missense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		21364088	56713160	31	46293											
OR2Z1	284383	broad.mit.edu	37	chr19	8841797	8841797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagtatcctgtacttaTgagacgccaggtatgtctgc	8	12	10	11	1	1	1	0	1	1	1	2	2	2	1	3	1	3	4	3	1	4	4			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:8841797T>C	ENST00000324060.2	+	1	482	c.407T>C	c.(406-408)aTg>aCg	p.M136T		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	136					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CCTGTACTTATGAGACGCCAG	0.547													C	8841797	T	C	8841797	3	2	511	1	0	0	0	0	1	0	0	0	11112	1464	51	3	409	3	OR2Z1	19	8841797	Missense_Mutation	SNP	T	TCGA-HT-7467-01A-11D-2024-08		8841797	50287186	32	46294											
RYR1	6261	broad.mit.edu	37	chr19	39055678	39055678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagatggagctcttcgtgaGtttctgcgaggacaccatct	9	11	12	9	2	3	2	0	1	3	1	4	6	3	4	1	2	2	2	1	2	1	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:39055678G>A	ENST00000355481.4	+	90	12820	c.12689G>A	c.(12688-12690)aGt>aAt	p.S4230N	RYR1_ENST00000360985.3_Missense_Mutation_p.S4230N|RYR1_ENST00000359596.3_Missense_Mutation_p.S4235N	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4235					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	CTCTTCGTGAGTTTCTGCGAG	0.657													A	39055678	G	A	39055678	3	1	511	1	0	0	0	0	1	0	0	0	13859	1029	36	2	13066	2	RYR1	19	39055678	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	30213881	39055678	20073305	33	46295											
PTPRH	5794	broad.mit.edu	37	chr19	55693461	55693461	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaaggagaccctcggactGcagctgccggagcaggacgt	9	4	14	14	3	0	1	0	0	0	1	1	5	0	4	3	4	4	3	3	4	1	0			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr19:55693461G>A	ENST00000376350.3	-	19	3143	c.3121C>T	c.(3121-3123)Cag>Tag	p.Q1041*	PTPRH_ENST00000263434.5_Nonsense_Mutation_p.Q863*	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	1041	Tyrosine-protein phosphatase.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.Q1041E(1)		breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		CCCTCGGACTGCAGCTGCCGG	0.607													A	55693461	G	A	55693461	4	1	511	1	0	0	0	0	0	1	0	0	12891	1328	46	2	234	2	PTPRH	19	55693461	Nonsense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	16637783	55693461	3435522	34	46296											
PCSK2	5126	broad.mit.edu	37	chr20	17339014	17339014	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggatttgaccgaaaaaagCgaggttacagagacatcaat	18	7	10	6	2	1	2	1	1	0	1	1	6	1	3	1	2	2	1	1	2	6	2			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:17339014C>T	ENST00000262545.2	+	3	640	c.325C>T	c.(325-327)Cga>Tga	p.R109*	PCSK2_ENST00000536609.1_Nonsense_Mutation_p.R74*|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.R90*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	109					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGAAAAAAGCGAGGTTACAG	0.398													T	17339014	C	T	17339014	4	4	511	1	0	0	0	0	0	1	0	0	11677	760	27	1	335	1	PCSK2	20	17339014	Nonsense_Mutation	SNP	C	TCGA-HT-7467-01A-11D-2024-08		17339014	45686506	35	46297											
TMEM189	387521	broad.mit.edu	37	chr20	48700714	48700714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaatttttgttacaaaTcttacaaaggggggtgcttc	12	16	8	5	0	1	0	0	0	1	0	2	0	1	0	0	3	3	2	0	3	6	7			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:48700714T>C	ENST00000557021.1	-	7	1078	c.918A>G	c.(916-918)agA>agG	p.R306R	UBE2V1_ENST00000340309.3_Silent_p.R106R|UBE2V1_ENST00000415862.2_Silent_p.R39R|UBE2V1_ENST00000371674.3_Silent_p.R83R|UBE2V1_ENST00000371657.5_Intron|UBE2V1_ENST00000420027.2_Silent_p.R39R|TMEM189-UBE2V1_ENST00000341698.2_Silent_p.R306R|UBE2V1_ENST00000371677.3_Silent_p.R106R|UBE2V1_ENST00000396059.3_5'UTR	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			TTGTTACAAATCTTACAAAGG	0.358													C	48700714	T	C	48700714	2	2	511	1	0	0	0	0	0	0	0	1	16211	1432	50	3		3	TMEM189	20	48700714	Silent	SNP	T	TCGA-HT-7467-01A-11D-2024-08	31361700	48700714	14324806	36	46298											
CTSZ	1522	broad.mit.edu	37	chr20	57576621	57576621	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccccttcacaggagccaGcgttaccgcagtcgatgacg	9	7	10	15	4	1	1	1	1	0	0	2	3	1	2	4	1	4	2	4	1	2	3			TCGA-HT-7467-01A-11D-2024-08	TCGA-HT-7467-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	38f4e4b7-a4cc-4d87-bfd0-c4356d92086e	144f3ce7-40ba-4773-a950-e8d7ac5a0e49	g.chr20:57576621G>A	ENST00000217131.5	-	3	504	c.386C>T	c.(385-387)gCt>gTt	p.A129V		NM_001336.3	NP_001327.2	Q9UBR2	CATZ_HUMAN	cathepsin Z	129			A -> R (requires 2 nucleotide substitutions).		proteolysis	endoplasmic reticulum|extracellular space|lysosome	cysteine-type endopeptidase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)	10	all_lung(29;0.00711)		Colorectal(105;0.109)			ACAGGAGCCAGCGTTACCGCA	0.602													A	57576621	G	A	57576621	3	1	511	1	0	0	0	0	1	0	0	0	4076	971	34	2	541	2	CTSZ	20	57576621	Missense_Mutation	SNP	G	TCGA-HT-7467-01A-11D-2024-08	8875907	57576621	5448899	37	46299											
ARID1A	8289	broad.mit.edu	37	chr1	27105550	27105550	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccttgtagaatatttcCgacgatgcctgattgagatc	10	13	9	9	2	0	3	0	2	0	2	3	6	2	3	3	0	2	2	3	0	3	5			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:27105550C>T	ENST00000324856.7	+	20	5532	c.5161C>T	c.(5161-5163)Cga>Tga	p.R1721*	ARID1A_ENST00000374152.2_Nonsense_Mutation_p.R1338*|ARID1A_ENST00000540690.1_Nonsense_Mutation_p.R49*|ARID1A_ENST00000457599.2_Nonsense_Mutation_p.R1504*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1721					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.R1721*(3)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AGAATATTTCCGACGATGCCT	0.443			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27105550	C	T	27105550	4	4	512	1	0	0	0	0	0	1	0	0	916	644	23	1	5239	1	ARID1A	1	27105550	Nonsense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		27105550	222145071	1	46300											
LPHN2	23266	broad.mit.edu	37	chr1	82408735	82408735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaaggcgggtgcttggtgCaaggaccctcttcaggctgc	8	8	14	11	1	2	0	1	0	1	0	2	1	2	1	1	5	3	3	1	5	3	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr1:82408735C>G	ENST00000370728.1	+	8	1125	c.480C>G	c.(478-480)tgC>tgG	p.C160W	LPHN2_ENST00000370713.1_Missense_Mutation_p.C160W|LPHN2_ENST00000271029.4_Missense_Mutation_p.C160W|LPHN2_ENST00000370727.1_Missense_Mutation_p.C160W|LPHN2_ENST00000394879.1_Missense_Mutation_p.C160W|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000335786.5_Missense_Mutation_p.C160W|LPHN2_ENST00000370721.1_Missense_Mutation_p.C164W|LPHN2_ENST00000359929.3_Missense_Mutation_p.C160W|LPHN2_ENST00000370730.1_Missense_Mutation_p.C160W|LPHN2_ENST00000319517.6_Missense_Mutation_p.C160W|LPHN2_ENST00000370717.2_Missense_Mutation_p.C160W|LPHN2_ENST00000370725.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370715.1_Missense_Mutation_p.C160W|LPHN2_ENST00000370723.1_Missense_Mutation_p.C160W			O95490	LPHN2_HUMAN	latrophilin 2	160	Olfactomedin-like.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		GTGCTTGGTGCAAGGACCCTC	0.408													G	82408735	C	G	82408735	3	3	512	1	0	0	0	0	1	0	0	0	8986	718	25	4	494	4	LPHN2	1	82408735	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	55303185	82408735	166841886	2	46301											
GALNT5	11227	broad.mit.edu	37	chr2	158152216	158152216	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attctcatgtggaatgtaacGttggttggttggaacctctt	8	16	11	6	1	2	0	1	0	2	0	3	2	2	2	1	4	2	4	1	4	3	6	rs138347479		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:158152216G>A	ENST00000259056.4	+	4	2268	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	595	Catalytic subdomain A.				glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGAATGTAACGTTGGTTGGTT	0.358													A	158152216	G	A	158152216	3	1	512	1	0	0	0	0	1	0	0	0	6270	1145	40	1	1797	1	GALNT5	2	158152216	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		158152216	85047157	3	46302											
TTN	7273	broad.mit.edu	37	chr2	179434377	179434377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actataataggtccagggacGtcagcatgttctccaactcc	11	10	8	12	1	2	0	1	0	1	0	5	1	4	1	3	2	2	2	3	2	4	4			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr2:179434377G>A	ENST00000589042.1	-	326	76706	c.76482C>T	c.(76480-76482)gaC>gaT	p.D25494D	TTN_ENST00000342175.6_Silent_p.D16621D|TTN_ENST00000591111.1_Silent_p.D23853D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.D22926D|TTN_ENST00000359218.5_Silent_p.D16554D|TTN_ENST00000460472.2_Silent_p.D16429D|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	23853	Fibronectin type-III 85.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCAGGGACGTCAGCATGTT	0.373													A	179434377	G	A	179434377	2	1	512	1	0	0	0	0	0	0	0	1	16837	1136	40	1		1	TTN	2	179434377	Silent	SNP	G	TCGA-HT-7468-01A-11D-2024-08	21282161	179434377	63764996	4	46303											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	512	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	29678735	209113112	34086261	5	46304											
SCN11A	11280	broad.mit.edu	37	chr3	38936278	38936278	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttgctgtggtaagttttGcttcctgcaccacttgtgac	5	18	9	9	0	0	1	0	1	0	0	1	1	1	1	2	1	3	5	2	1	1	7			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:38936278G>T	ENST00000450244.1	-	15	2779	c.2581C>A	c.(2581-2583)Caa>Aaa	p.Q861K	SCN11A_ENST00000456224.3_Missense_Mutation_p.Q861K|SCN11A_ENST00000444237.2_Missense_Mutation_p.Q861K|SCN11A_ENST00000302328.3_Missense_Mutation_p.Q861K			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	861					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GGTAAGTTTTGCTTCCTGCAC	0.488													T	38936278	G	T	38936278	3	4	512	1	0	0	0	0	1	0	0	0	14006	1328	46	4	2842	4	SCN11A	3	38936278	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		38936278	159086152	6	46305											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952072	A	G	178952072	3	3	512	1	0	0	0	0	1	0	0	0	11990	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08	140015794	178952072	19070358	7	46306											
CRIPAK	285464	broad.mit.edu	37	chr4	1388948	1388948	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcacacgtgcccatgtggAgtgttcgcctgctcacacgt	6	10	11	14	3	2	0	2	0	0	0	3	1	2	1	2	1	2	3	2	1	0	1	rs71299249	byFrequency	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr4:1388948A>C	ENST00000324803.4	+	1	3609	c.649A>C	c.(649-651)Agt>Cgt	p.S217R		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	217					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCCATGTGGAGTGTTCGCCT	0.662													C	1388948	A	C	1388948	3	2	512	1	0	0	0	0	1	0	0	0	3908	304	11	5	651	5	CRIPAK	4	1388948	Missense_Mutation	SNP	A	TCGA-HT-7468-01A-11D-2024-08		1388948	189765328	8	46307											
NIPBL	25836	broad.mit.edu	37	chr5	37048690	37048693	+	Frame_Shift_Del	DEL	TCAG	TCAG	-																															ttttatctgataagaactccTcagtcaatttaaaaatacaa																										TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr5:37048690_37048693delTCAG	ENST00000282516.8	+	39	7175_7178	c.6676_6679delTCAG	c.(6676-6681)tcagtcfs	p.SV2226fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.SV2226fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2226					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TAAGAACTCCTCAGTCAATTTAAA	0.353													-	37048693	TCAG	-	37048690	7	5	512	1	0	1	0	1	0	0	0	0	10504	1551	54	0	6826	0	NIPBL	5	37048690	Frame_Shift_Del	DEL	TCAG	TCGA-HT-7468-01A-11D-2024-08		37048690	143866570	9	46308											
TNXB	7148	broad.mit.edu	37	chr6	32053695	32053695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccctcgggcacccgcatgcGcagttggaagtaggcaaagg	9	5	14	13	3	0	0	0	0	0	0	1	1	0	1	3	4	1	6	3	4	3	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:32053695G>A	ENST00000375244.3	-	7	3181	c.2980C>T	c.(2980-2982)Cgc>Tgc	p.R994C	TNXB_ENST00000375247.2_Missense_Mutation_p.R994C			P22105	TENX_HUMAN	tenascin XB	1081	Fibronectin type-III 2.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						ACCCGCATGCGCAGTTGGAAG	0.672													A	32053695	G	A	32053695	3	1	512	1	0	0	0	0	1	0	0	0	16446	1087	38	1	11885	1	TNXB	6	32053695	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		32053695	139061372	10	46309											
TDRD6	221400	broad.mit.edu	37	chr6	46660414	46660415	+	Frame_Shift_Ins	INS	-	-	A																															tcttaactggtataatccagINSaaaaaaaaatgataagagct																								rs145334816		TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr6:46660414_46660415insA	ENST00000544460.1	+	1	4803_4804	c.4549_4550insA	c.(4549-4551)gaafs	p.E1517fs	TDRD6_ENST00000316081.6_Frame_Shift_Ins_p.E1517fs	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1517					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			GTATAATCCAGAAAAAAAAATG	0.351													A	46660415	-	A	46660414	7	5	512	1	0	1	1	0	0	0	0	0	15834	943	33	0	4551	0	TDRD6	6	46660414	Frame_Shift_Ins	INS	-	TCGA-HT-7468-01A-11D-2024-08	14606719	46660414	124454653	11	46310											
C7orf63	79846	broad.mit.edu	37	chr7	89929253	89929253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgataatcccaaaactgcaGctcatgtcaatgcttggcaa	13	10	8	10	0	2	1	2	1	0	0	3	1	3	1	1	1	4	4	1	1	5	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:89929253G>A	ENST00000389297.4	+	17	2181	c.1930G>A	c.(1930-1932)Gct>Act	p.A644T	C7orf63_ENST00000316089.8_Missense_Mutation_p.A644T|C7orf63_ENST00000497910.1_Missense_Mutation_p.A626T	NM_001039706.2|NM_001160138.1	NP_001034795.2|NP_001153610.1	A5D8W1	CG063_HUMAN	chromosome 7 open reading frame 63	644							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|prostate(3)	37						CAAAACTGCAGCTCATGTCAA	0.348													A	89929253	G	A	89929253	3	1	512	1	0	0	0	0	1	0	0	0	2433	971	34	2	1996	2	C7orf63	7	89929253	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		89929253	69209410	12	46311											
SLC13A1	6561	broad.mit.edu	37	chr7	122768985	122768985	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ataatgaagaggaccaaggtCacaatttcttgatacctgtg	14	11	9	7	0	2	3	1	2	1	1	2	4	2	4	2	2	1	0	2	2	5	4			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr7:122768985C>T	ENST00000194130.2	-	10	1086	c.1047G>A	c.(1045-1047)gtG>gtA	p.V349V	SLC13A1_ENST00000539873.1_3'UTR	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1	349						integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GGACCAAGGTCACAATTTCTT	0.418													T	122768985	C	T	122768985	2	4	512	1	0	0	0	0	0	0	0	1	14485	813	29	2		2	SLC13A1	7	122768985	Silent	SNP	C	TCGA-HT-7468-01A-11D-2024-08	32839732	122768985	36369678	13	46312											
BRSK2	9024	broad.mit.edu	37	chr11	1477639	1477639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggccgagtacaaggccaCgggggggccagccgtgttcc	6	4	17	14	4	0	0	0	0	0	0	1	1	1	0	6	5	2	2	6	5	2	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr11:1477639C>T	ENST00000308219.9	+	17	2116	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	BRSK2_ENST00000308230.5_Missense_Mutation_p.T599M|BRSK2_ENST00000544817.1_Missense_Mutation_p.T272M|BRSK2_ENST00000526678.1_Missense_Mutation_p.T599M|BRSK2_ENST00000382179.1_Missense_Mutation_p.T623M|BRSK2_ENST00000531197.1_Missense_Mutation_p.T577M|BRSK2_ENST00000528841.1_Missense_Mutation_p.T577M|BRSK2_ENST00000528710.1_Missense_Mutation_p.T517M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	577					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		TACAAGGCCACGGGGGGGCCA	0.622													T	1477639	C	T	1477639	3	4	512	1	0	0	0	0	1	0	0	0	1533	536	19	1	1796	1	BRSK2	11	1477639	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		1477639	133528877	14	46313											
RPGRIP1	57096	broad.mit.edu	37	chr14	21792899	21792899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcagggtgagaatctttttGaactgcacatccaccaggcc	11	10	9	11	0	2	2	1	2	1	1	3	3	3	2	3	2	2	1	3	2	2	2			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr14:21792899G>A	ENST00000206660.6	+	14	1885	c.1885G>A	c.(1885-1887)Gaa>Aaa	p.E629K	RPGRIP1_ENST00000553500.1_Intron|RPGRIP1_ENST00000556336.1_Intron|RPGRIP1_ENST00000400017.2_Missense_Mutation_p.E629K|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.E591K|RPGRIP1_ENST00000307974.4_Intron|RPGRIP1_ENST00000382933.4_Intron			Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	629					response to stimulus|visual perception	cilium				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		GAATCTTTTTGAACTGCACAT	0.498													A	21792899	G	A	21792899	3	1	512	1	0	0	0	0	1	0	0	0	13640	1291	45	2	1939	2	RPGRIP1	14	21792899	Missense_Mutation	SNP	G	TCGA-HT-7468-01A-11D-2024-08		21792899	85556641	15	46314											
C17orf53	78995	broad.mit.edu	37	chr17	42225428	42225428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctccctgcctccagcaCgcccagtgctgacagccgtc	5	7	9	20	2	0	1	0	1	0	0	3	1	2	1	6	0	5	2	6	0	0	0			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr17:42225428C>T	ENST00000319977.4	+	3	494	c.257C>T	c.(256-258)aCg>aTg	p.T86M	C17orf53_ENST00000245382.6_Missense_Mutation_p.T86M|C17orf53_ENST00000585683.1_Missense_Mutation_p.T86M	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	86										NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		GCCTCCAGCACGCCCAGTGCT	0.602													T	42225428	C	T	42225428	3	4	512	1	0	0	0	0	1	0	0	0	1878	536	19	1	267	1	C17orf53	17	42225428	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		42225428	38969782	16	46315											
JAK3	3718	broad.mit.edu	37	chr19	17945744	17945744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgaagccccacttgtcagCttccaagctaagtgtctgcg	8	9	10	14	2	2	0	1	0	1	0	3	1	3	0	4	0	4	2	4	0	3	3			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:17945744C>A	ENST00000458235.1	-	16	2215	c.2116G>T	c.(2116-2118)Gct>Tct	p.A706S	JAK3_ENST00000527670.1_Missense_Mutation_p.A706S|JAK3_ENST00000534444.1_Missense_Mutation_p.A706S	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	706	Protein kinase 1.				B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CACTTGTCAGCTTCCAAGCTA	0.617		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								A	17945744	C	A	17945744	3	1	512	1	0	0	0	0	1	0	0	0	7997	797	28	4	1294	4	JAK3	19	17945744	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08		17945744	41183239	17	46316											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	512	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7468-01A-11D-2024-08	24846013	42791757	16337226	18	46317											
BAGE2	85319	broad.mit.edu	37	chr21	11039406	11039406	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actatcagcctcattagaaaTctgtttttccaattcggtat	11	16	5	9	1	3	1	2	0	1	1	5	1	4	1	2	1	1	2	2	1	5	6	rs8134740	by1000genomes	TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr21:11039406T>C	ENST00000470054.1	-	0	797									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTAGAAATCTGTTTTTCC	0.299													C	11039406	T	C	11039406	1	2	512	0	1	0	0	0	0	0	0	0	1297	1450	50	3		3	BAGE2	21	11039406	RNA	SNP	T	TCGA-HT-7468-01A-11D-2024-08		11039406	37090489	19	46318											
CECR2	27443	broad.mit.edu	37	chr22	18028150	18028150	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctatccgagaacggagtcaTtggggaagcatctccttgtg	9	11	12	9	2	3	1	1	0	2	1	5	4	4	3	2	3	2	1	2	3	3	3			TCGA-HT-7468-01A-11D-2024-08	TCGA-HT-7468-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	053517e5-fb21-4127-b893-bdda23e4de42	219554d7-3116-498e-8f48-05286e616cc7	g.chr22:18028150T>C	ENST00000400573.5	+	17	3114	c.3107T>C	c.(3106-3108)aTt>aCt	p.I1036T	CECR2_ENST00000262608.8_Missense_Mutation_p.I1037T|CECR2_ENST00000400585.2_Missense_Mutation_p.I894T			Q9BXF3	CECR2_HUMAN	cat eye syndrome chromosome region, candidate 2						chromatin modification|cytokinesis|cytoskeleton organization|DNA fragmentation involved in apoptotic nuclear change|vesicle-mediated transport		protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	59		all_epithelial(15;0.139)		Lung(27;0.146)		AACGGAGTCATTGGGGAAGCA	0.622													C	18028150	T	C	18028150	3	2	512	1	0	0	0	0	1	0	0	0	3236	1493	52	3	3171	3	CECR2	22	18028150	Missense_Mutation	SNP	T	TCGA-HT-7468-01A-11D-2024-08		18028150	33276416	20	46319											
CCDC30	728621	broad.mit.edu	37	chr1	43032078	43032078	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcagctgaaaatgagcttCgatatgaacgagggcagaac	15	7	11	8	2	1	4	1	3	0	1	2	6	1	4	0	1	4	3	0	1	5	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:43032078C>T	ENST00000428554.2	+	13	1930	c.787C>T	c.(787-789)Cga>Tga	p.R263*	CCDC30_ENST00000390640.4_Nonsense_Mutation_p.R52*|CCDC30_ENST00000342022.4_Nonsense_Mutation_p.R263*|CCDC30_ENST00000507855.1_Nonsense_Mutation_p.R52*|CCDC30_ENST00000340612.4_Nonsense_Mutation_p.R263*			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	263								p.R263*(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						AAATGAGCTTCGATATGAACG	0.408													T	43032078	C	T	43032078	4	4	513	1	0	0	0	0	0	1	0	0	2832	876	31	1	805	1	CCDC30	1	43032078	Nonsense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		43032078	206218543	1	46320											
SYCP1	6847	broad.mit.edu	37	chr1	115401230	115401230	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctgaaaagataaaaaaAtggaaagtaagtacagaagc	22	5	11	3	0	0	3	0	1	0	2	0	5	0	4	0	2	2	3	0	2	10	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:115401230A>G	ENST00000369522.3	+	6	594	c.354A>G	c.(352-354)aaA>aaG	p.K118K	SYCP1_ENST00000369518.1_Silent_p.K118K	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	118					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGATAAAAAAATGGAAAGTAA	0.328													G	115401230	A	G	115401230	2	3	513	1	0	0	0	0	0	0	0	1	15528	98	4	3		3	SYCP1	1	115401230	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	72369152	115401230	133849391	2	46321											
MEX3A	92312	broad.mit.edu	37	chr1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-																															cagcgcgggccttggcggaaGaggaggaggaggaggaggca																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744													-	156046689	GAG	-	156046687	7	5	513	1	0	1	0	1	0	0	0	0	9584	942	33	0	325	0	MEX3A	1	156046687	In_Frame_Del	DEL	GAG	TCGA-HT-7469-01A-11D-2253-08	40645457	156046687	93203934	3	46322											
H3F3A	3020	broad.mit.edu	37	chr1	226252155	226252155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagtgcgccctctactggaGgggtgaagaaacctcatcgt	10	8	13	10	2	2	3	1	1	1	2	3	4	2	4	2	3	3	0	2	3	3	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr1:226252155G>A	ENST00000366814.3	+	2	224	c.103G>A	c.(103-105)Ggg>Agg	p.G35R	H3F3A_ENST00000366815.3_Missense_Mutation_p.G35R|H3F3A_ENST00000366816.1_Missense_Mutation_p.G35R|H3F3A_ENST00000366813.1_Missense_Mutation_p.G35R					H3 histone, family 3A									p.G35R(11)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		CTCTACTGGAGGGGTGAAGAA	0.458			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	226252155	G	A	226252155	3	1	513	1	0	0	0	0	1	0	0	0	6988	1000	35	2	105	2	H3F3A	1	226252155	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	70205468	226252155	22998466	4	46323											
UCN	7349	broad.mit.edu	37	chr2	27530455	27530455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgctggctctgcgtccgCgccagctccagcagggtccg	3	7	13	18	5	1	0	0	0	1	0	5	0	5	0	5	2	3	4	5	2	0	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:27530455C>T	ENST00000296099.2	-	2	607	c.309G>A	c.(307-309)gcG>gcA	p.A103A		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	103						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCTGCGTCCGCGCCAGCTCCA	0.662													T	27530455	C	T	27530455	2	4	513	1	0	0	0	0	0	0	0	1	17029	755	27	1		1	UCN	2	27530455	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		27530455	215668918	5	46324											
IL1RL2	8808	broad.mit.edu	37	chr2	102818122	102818122	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacgcgtgtcaagccatacTgacacactcagggaagcagt	12	7	10	12	2	2	1	2	1	0	0	2	2	2	2	1	1	4	1	1	1	4	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:102818122T>G	ENST00000264257.2	+	5	722	c.596T>G	c.(595-597)cTg>cGg	p.L199R	IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000539491.1_Missense_Mutation_p.L199R|IL1RL2_ENST00000441515.2_Missense_Mutation_p.L82R	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	199	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CAAGCCATACTGACACACTCA	0.478													G	102818122	T	G	102818122	3	3	513	1	0	0	0	0	1	0	0	0	7722	1580	55	5	610	5	IL1RL2	2	102818122	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	75287667	102818122	140381251	6	46325											
EDAR	10913	broad.mit.edu	37	chr2	109547447	109547447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggggagccagggcgtctgCgtgcagtcccccacatgggc	6	5	16	14	3	1	0	0	0	1	0	2	1	2	1	3	4	3	1	3	4	0	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:109547447C>T	ENST00000409271.1	-	3	467	c.24G>A	c.(22-24)acG>acA	p.T8T	EDAR_ENST00000376651.1_Silent_p.T8T|EDAR_ENST00000258443.2_Silent_p.T8T			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	8					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						AGGGCGTCTGCGTGCAGTCCC	0.627													T	109547447	C	T	109547447	2	4	513	1	0	0	0	0	0	0	0	1	4944	755	27	1		1	EDAR	2	109547447	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	6729325	109547447	133651926	7	46326											
TMEFF2	23671	broad.mit.edu	37	chr2	192922465	192922465	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaatatcacaggtggatGtctccttttgactagtttct	9	15	9	8	0	3	1	1	1	2	0	4	2	3	2	1	3	0	2	1	3	3	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr2:192922465G>T	ENST00000392314.1	-	5	867	c.476C>A	c.(475-477)aCa>aAa	p.T159K	TMEFF2_ENST00000272771.5_Missense_Mutation_p.T159K			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	159						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			ACAGGTGGATGTCTCCTTTTG	0.388													T	192922465	G	T	192922465	3	4	513	1	0	0	0	0	1	0	0	0	16114	1377	48	4	672	4	TMEFF2	2	192922465	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	83375018	192922465	50276908	8	46327											
HYAL1	3373	broad.mit.edu	37	chr3	50337931	50337931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caatcaccacatgctcttccGctcacaccacggtgcctgcc	8	8	6	19	2	3	0	2	0	1	0	4	0	4	0	5	1	3	2	5	1	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:50337931G>A	ENST00000266031.4	-	3	1906	c.1291C>T	c.(1291-1293)Cgg>Tgg	p.R431W	HYAL1_ENST00000395144.2_Missense_Mutation_p.R431W|HYAL1_ENST00000457214.2_Missense_Mutation_p.R249W|HYAL1_ENST00000447605.2_Missense_Mutation_p.R172W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R431W|HYAL1_ENST00000395143.2_Missense_Mutation_p.R401W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	431						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	ATGCTCTTCCGCTCACACCAC	0.552													A	50337931	G	A	50337931	3	1	513	1	0	0	0	0	1	0	0	0	7521	1086	38	1	20	1	HYAL1	3	50337931	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		50337931	147684499	9	46328											
OR5H15	403274	broad.mit.edu	37	chr3	97887873	97887873	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcaattggcgtaaccacAgaatgttttctcttggcaac	11	13	8	9	1	1	1	0	0	1	1	2	1	1	1	1	2	3	4	1	2	4	6			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:97887873A>T	ENST00000356526.2	+	1	330	c.330A>T	c.(328-330)acA>acT	p.T110T		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	110					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						GCGTAACCACAGAATGTTTTC	0.398													T	97887873	A	T	97887873	2	4	513	1	0	0	0	0	0	0	0	1	11237	175	7	5		5	OR5H15	3	97887873	Silent	SNP	A	TCGA-HT-7469-01A-11D-2253-08	47549942	97887873	100134557	10	46329											
P2RY12	64805	broad.mit.edu	37	chr3	151055882	151055882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaattcgggcaaaatggaaaGgaacaaaacaaataaagaat	23	5	9	4	1	0	1	0	0	0	1	1	4	0	3	0	3	2	1	0	3	11	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr3:151055882G>A	ENST00000302632.3	-	3	1051	c.752C>T	c.(751-753)cCt>cTt	p.P251L	MED12L_ENST00000491549.1_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000273432.4_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	251					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	AAAATGGAAAGGAACAAAACA	0.428													A	151055882	G	A	151055882	3	1	513	1	0	0	0	0	1	0	0	0	11425	1000	35	2	280	2	P2RY12	3	151055882	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	53168009	151055882	46966548	11	46330											
TLR1	7096	broad.mit.edu	37	chr4	38799739	38799739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggatttgtttgaagtttCgccagaatacttaggaagta	11	16	10	4	1	0	2	0	1	0	1	1	4	0	4	1	2	1	3	1	2	6	7	rs146940675		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:38799739C>T	ENST00000308979.2	-	4	987	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000502213.2_Silent_p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343													T	38799739	C	T	38799739	2	4	513	1	0	0	0	0	0	0	0	1	16049	871	31	1		1	TLR1	4	38799739	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		38799739	152354537	12	46331											
SHISA3	152573	broad.mit.edu	37	chr4	42403175	42403178	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															gcttctcactccgcagctatCagacagagaccctgcccatg																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:42403175_42403178delCAGA	ENST00000319234.4	+	2	642_645	c.424_427delCAGA	c.(424-429)cagacafs	p.QT142fs		NM_001080505.1	NP_001073974.1	A0PJX4	SHSA3_HUMAN	shisa family member 3	142					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	12						CCGCAGCTATCAGACAGAGACCCT	0.608													-	42403178	CAGA	-	42403175	7	5	513	1	0	1	0	1	0	0	0	0	14375	827	29	0	430	0	SHISA3	4	42403175	Frame_Shift_Del	DEL	CAGA	TCGA-HT-7469-01A-11D-2253-08	3603436	42403175	148751101	13	46332											
PDGFRA	5156	broad.mit.edu	37	chr4	55131206	55131206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccttcaatggacttaccCtggagaagtggtaggtaccc	10	10	11	10	0	1	2	1	1	0	1	1	4	1	3	3	4	2	2	3	4	5	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55131206C>T	ENST00000257290.5	+	5	1080	c.749C>T	c.(748-750)cCt>cTt	p.P250L	PDGFRA_ENST00000508170.1_3'UTR|FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	250	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGGACTTACCCTGGAGAAGTG	0.488			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55131206	C	T	55131206	3	4	513	1	0	0	0	0	1	0	0	0	11737	681	24	2	763	2	PDGFRA	4	55131206	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	12728031	55131206	136023070	14	46333											
PDGFRA	5156	broad.mit.edu	37	chr4	55133717	55133720	+	Splice_Site	DEL	AGAG	AGAG	-																															atggaaactcttccctgtacAgagaaaggtttcattgaaat																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:55133717_55133720delAGAG	ENST00000257290.5	+	7	1262_1264	c.931_933delAGAG	c.(931-933)agadel	p.R311fs	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	311					cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TTCCCTGTACAGAGAAAGGTTTCA	0.441			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			-	55133720	AGAG	-	55133717	8	5	513	1	0	1	0	1	0	0	1	0	11737	202	7	0	952	0	PDGFRA	4	55133717	Splice_Site	DEL	AGAG	TCGA-HT-7469-01A-11D-2253-08	2511	55133717	136020559	15	46334											
FSTL5	56884	broad.mit.edu	37	chr4	162697149	162697149	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attaggattttcattttcttGcataatatatttttgatttt	10	24	4	3	0	2	1	1	1	1	0	2	2	2	2	0	1	1	1	0	1	4	13			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr4:162697149G>A	ENST00000306100.5	-	5	923	c.487C>T	c.(487-489)Caa>Taa	p.Q163*	FSTL5_ENST00000536695.1_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000427802.2_Nonsense_Mutation_p.Q162*|FSTL5_ENST00000379164.4_Nonsense_Mutation_p.Q162*	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	163						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCATTTTCTTGCATAATATAT	0.308													A	162697149	G	A	162697149	4	1	513	1	0	0	0	0	0	1	0	0	6132	1328	46	2	2104	2	FSTL5	4	162697149	Nonsense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	107563432	162697149	28457127	16	46335											
MCTP1	79772	broad.mit.edu	37	chr5	94248540	94248540	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacttctgatgcccaagccGgaacttcacgtagggatcgc	9	9	11	12	3	2	1	1	1	1	0	3	3	2	3	2	2	4	2	2	2	4	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr5:94248540G>T	ENST00000515393.1	-	9	1491	c.1492C>A	c.(1492-1494)Cgg>Agg	p.R498R	MCTP1_ENST00000505078.1_Silent_p.R14R|MCTP1_ENST00000429576.2_Silent_p.R231R|MCTP1_ENST00000312216.8_Silent_p.R277R|MCTP1_ENST00000505208.1_Silent_p.R277R	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	498	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TGCCCAAGCCGGAACTTCACG	0.473													T	94248540	G	T	94248540	2	4	513	1	0	0	0	0	0	0	0	1	9475	1115	39	4		4	MCTP1	5	94248540	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		94248540	86666720	17	46336											
T	6862	broad.mit.edu	37	chr6	166579237	166579237	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctatgaactgggtctcaGggaagcagtggctggtgatc	8	9	15	9	1	1	2	1	2	1	0	3	3	1	3	1	4	2	3	1	4	3	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr6:166579237G>A	ENST00000296946.2	-	4	1031	c.563C>T	c.(562-564)cCt>cTt	p.P188L	T_ENST00000366871.3_Missense_Mutation_p.P188L	NM_003181.3	NP_003172.1	O15178	BRAC_HUMAN	T, brachyury homolog (mouse)	188					anterior/posterior axis specification, embryo|mesoderm development|primitive streak formation	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Prostate(117;4.48e-07)|Ovarian(120;1.78e-06)|Breast(66;2.54e-06)|Lung SC(201;0.0225)|Esophageal squamous(34;0.0559)		OV - Ovarian serous cystadenocarcinoma(33;1.09e-113)|GBM - Glioblastoma multiforme(31;1.51e-108)|BRCA - Breast invasive adenocarcinoma(81;8.45e-09)|LUAD - Lung adenocarcinoma(999;0.0407)		CTGGGTCTCAGGGAAGCAGTG	0.557									Chordoma, Familial Clustering of				A	166579237	G	A	166579237	3	1	513	1	0	0	0	0	1	0	0	0	15585	1000	35	2	768	2	T	6	166579237	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		166579237	4535830	18	46337											
POR	5447	broad.mit.edu	37	chr7	75601767	75601767	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagagcagctttgtggaaaaGatgaagaaaacggtgagttt	15	9	14	3	1	0	5	0	2	0	3	0	7	0	6	0	2	3	3	0	2	5	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:75601767G>A	ENST00000419840.1	+	0	307				POR_ENST00000461988.1_Silent_p.K75K|POR_ENST00000475509.1_3'UTR|POR_ENST00000394893.1_Silent_p.K75K			P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						cellular organofluorine metabolic process|positive regulation of monooxygenase activity	endoplasmic reticulum membrane	iron ion binding|NADPH-hemoprotein reductase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Lipoic Acid(DB00166)|Menadione(DB00170)|Methoxyflurane(DB01028)|Mitomycin(DB00305)|Nilutamide(DB00665)	TTGTGGAAAAGATGAAGAAAA	0.537											OREG0018131	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	75601767	G	A	75601767	1	1	513	1	0	0	0	0	0	0	0	0	12334	933	33	2		2	POR	7	75601767	Translation_Start_Site	SNP	G	TCGA-HT-7469-01A-11D-2253-08		75601767	83536896	19	46338											
SLC26A4	5172	broad.mit.edu	37	chr7	107312689	107312692	+	Splice_Site	DEL	AGTT	AGTT	-																															ggaacatcaagacatatctcAgttggtaattataagtatat																								rs111033199		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr7:107312689_107312692delAGTT	ENST00000265715.3	+	4	635_638	c.411_414delAGTT	c.(409-414)tcagtt>tc	p.SV137fs		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	137			S -> P (in PDS).		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						GACATATCTCAGTTGGTAATTATA	0.338									Pendred syndrome				-	107312692	AGTT	-	107312689	8	5	513	1	0	1	0	1	0	0	1	0	14613	175	7	0	421	0	SLC26A4	7	107312689	Splice_Site	DEL	AGTT	TCGA-HT-7469-01A-11D-2253-08	31710922	107312689	51825974	20	46339											
HR	55806	broad.mit.edu	37	chr8	21982885	21982885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcaggcggcacagtcggtcCcccaaaccactgagcaggtg	10	4	13	14	2	0	1	0	1	0	0	2	1	1	1	3	4	3	3	3	4	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:21982885C>T	ENST00000381418.4	-	5	3169	c.1689G>A	c.(1687-1689)ggG>ggA	p.G563G	HR_ENST00000312841.8_Silent_p.G563G	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	563							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		ACAGTCGGTCCCCCAAACCAC	0.677													T	21982885	C	T	21982885	2	4	513	1	0	0	0	0	0	0	0	1	7402	610	22	2		2	HR	8	21982885	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		21982885	124381137	21	46340											
SLC20A2	6575	broad.mit.edu	37	chr8	42287600	42287600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggacggcgtgatgggaGtgaggtccttccccatggtc	6	9	15	11	2	0	2	0	2	0	0	3	4	2	4	4	5	0	0	4	5	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:42287600G>A	ENST00000342228.3	-	9	2060	c.1691C>T	c.(1690-1692)aCt>aTt	p.T564I	SLC20A2_ENST00000520179.1_Missense_Mutation_p.T564I|SLC20A2_ENST00000520262.1_Missense_Mutation_p.T564I	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	564					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CGTGATGGGAGTGAGGTCCTT	0.612													A	42287600	G	A	42287600	3	1	513	1	0	0	0	0	1	0	0	0	14533	1029	36	2	279	2	SLC20A2	8	42287600	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	20304715	42287600	104076422	22	46341											
PPP1R16A	84988	broad.mit.edu	37	chr8	145727173	145727174	+	Frame_Shift_Ins	INS	-	-	C																															cctgcctggtgacacggtgaINSccccccagcctgactgtggc																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr8:145727173_145727174insC	ENST00000292539.4	+	11	2391_2392	c.1474_1475insC	c.(1474-1476)accfs	p.T492fs	PPP1R16A_ENST00000435887.1_Frame_Shift_Ins_p.T492fs			Q96I34	PP16A_HUMAN	protein phosphatase 1, regulatory subunit 16A	492						plasma membrane	protein binding			NS(1)|endometrium(1)|kidney(2)|lung(3)|prostate(1)	8	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGACACGGTGACCCCCCAGCCT	0.713													C	145727174	-	C	145727173	7	5	513	1	0	1	1	0	0	0	0	0	12447	275	10	0	1512	0	PPP1R16A	8	145727173	Frame_Shift_Ins	INS	-	TCGA-HT-7469-01A-11D-2253-08	103439573	145727173	636849	23	46342											
RLN1	6013	broad.mit.edu	37	chr9	5339680	5339680	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccttccatttggccgcgaCtgctctggaaaattggttca	7	13	10	11	2	2	0	1	0	1	0	4	2	4	1	3	3	1	2	3	3	2	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:5339680C>G	ENST00000223858.4	-	1	193	c.67G>C	c.(67-69)Gtc>Ctc	p.V23L	RLN1_ENST00000223862.1_Missense_Mutation_p.V23L			P04808	REL1_HUMAN	relaxin 1	23					female pregnancy|signal transduction	extracellular region	hormone activity			large_intestine(1)|lung(4)	5	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.02)|Lung(218;0.0984)		TTGGCCGCGACTGCTCTGGAA	0.517													G	5339680	C	G	5339680	3	3	513	1	0	0	0	0	1	0	0	0	13482	565	20	4	498	4	RLN1	9	5339680	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		5339680	135873751	24	46343											
UNC13B	10497	broad.mit.edu	37	chr9	35381621	35381621	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgaagctcgaggagaCgatgcctggaaggtgtactt	10	9	13	9	2	0	2	0	1	0	1	2	6	1	3	2	3	3	2	2	3	3	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr9:35381621C>T	ENST00000378495.3	+	19	2535	c.2313C>T	c.(2311-2313)gaC>gaT	p.D771D	UNC13B_ENST00000378496.4_Silent_p.D771D|UNC13B_ENST00000396787.1_Silent_p.D783D	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	771					excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CTCGAGGAGACGATGCCTGGA	0.498													T	35381621	C	T	35381621	2	4	513	1	0	0	0	0	0	0	0	1	17087	535	19	1		1	UNC13B	9	35381621	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	30041941	35381621	105831810	25	46344											
PRKCQ	5588	broad.mit.edu	37	chr10	6527130	6527130	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacctctttttcccggtgtCggtaaacatggcggccttgc	5	13	10	13	3	1	0	0	0	1	0	3	0	2	0	3	4	3	1	3	4	3	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:6527130C>T	ENST00000263125.5	-	10	1101	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	PRKCQ_ENST00000397176.2_Silent_p.P334P|PRKCQ_ENST00000539722.1_Silent_p.P209P	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	334					axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TTCCCGGTGTCGGTAAACATG	0.443													T	6527130	C	T	6527130	2	4	513	1	0	0	0	0	0	0	0	1	12601	871	31	1		1	PRKCQ	10	6527130	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		6527130	129007617	26	46345											
FRMD4A	55691	broad.mit.edu	37	chr10	13825006	13825006	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaatgctttctatatagaaCctgaaagagaaaaatggtgc	17	10	9	5	0	1	3	0	1	1	2	1	5	1	3	1	1	3	1	1	1	8	4			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:13825006C>T	ENST00000357447.2	-	6	668	c.300G>A	c.(298-300)agG>agA	p.R100R	FRMD4A_ENST00000358621.4_Splice_Site_p.R85R|FRMD4A_ENST00000378503.1_Splice_Site_p.R100R|FRMD4A_ENST00000342409.2_Splice_Site_p.R116R	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	100	FERM.					cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CTATATAGAACCTGAAAGAGA	0.428													T	13825006	C	T	13825006	5	4	513	1	0	0	0	0	0	0	1	0	6103	521	18	2	2895	2	FRMD4A	10	13825006	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7297876	13825006	121709741	27	46346											
AFAP1L2	84632	broad.mit.edu	37	chr10	116060060	116060060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagattctctgctgttccGtctggattttgacggtggtg	5	15	14	7	2	2	2	0	1	2	1	4	4	3	3	1	4	1	2	1	4	0	4	rs144011687	byFrequency	TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr10:116060060G>A	ENST00000369271.3	-	15	2150	c.1850C>T	c.(1849-1851)aCg>aTg	p.T617M	AFAP1L2_ENST00000304129.4_Missense_Mutation_p.T617M|AFAP1L2_ENST00000491814.1_5'UTR|AFAP1L2_ENST00000545353.1_Missense_Mutation_p.T670M	NM_001001936.1|NM_032550.2	NP_001001936.1|NP_115939.1	Q8N4X5	AF1L2_HUMAN	actin filament associated protein 1-like 2	617					inflammatory response|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of transcription, DNA-dependent|regulation of interleukin-6 production|regulation of mitotic cell cycle	cytoplasm	protein tyrosine kinase activator activity|SH2 domain binding|SH3 domain binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|prostate(2)	21		Colorectal(252;0.175)|Breast(234;0.231)		Epithelial(162;0.0219)|all cancers(201;0.0561)		CTGCTGTTCCGTCTGGATTTT	0.607													A	116060060	G	A	116060060	3	1	513	1	0	0	0	0	1	0	0	0	355	1145	40	1	626	1	AFAP1L2	10	116060060	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	102235054	116060060	19474687	28	46347											
OR8B4	283162	broad.mit.edu	37	chr11	124294595	124294595	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaagaggaaaaagtacatgGgggtgtgaaggctaggattt	14	9	16	2	0	0	3	0	2	0	1	0	5	0	5	0	5	1	2	0	5	6	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr11:124294595G>A	ENST00000356130.3	-	1	194	c.173C>T	c.(172-174)cCc>cTc	p.P58L		NM_001005196.1	NP_001005196.1	Q96RC9	OR8B4_HUMAN	olfactory receptor, family 8, subfamily B, member 4	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(1)|urinary_tract(1)	32		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AAAGTACATGGGGGTGTGAAG	0.413													A	124294595	G	A	124294595	3	1	513	1	0	0	0	0	1	0	0	0	11305	1232	43	2	758	2	OR8B4	11	124294595	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		124294595	10711921	29	46348											
MYF5	4617	broad.mit.edu	37	chr12	81110845	81110845	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcctctcagcaggatGgacgtgatggatggctgcca	7	8	14	12	2	1	1	1	1	1	0	2	4	1	4	3	4	3	2	3	4	0	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:81110845G>A	ENST00000228644.3	+	1	155	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	1					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						TCAGCAGGATGGACGTGATGG	0.642													A	81110845	G	A	81110845	1	1	513	1	0	0	0	0	0	0	0	0	10103	1348	47	2		2	MYF5	12	81110845	Translation_Start_Site	SNP	G	TCGA-HT-7469-01A-11D-2253-08		81110845	52741050	30	46349											
MYL2	4633	broad.mit.edu	37	chr12	111348957	111348957	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagtcacgtcaggggggAaggcggcgaacatctggtca	9	6	16	10	3	4	0	3	0	1	0	4	2	4	1	1	6	2	0	1	6	2	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr12:111348957A>G	ENST00000228841.8	-	7	472	c.425T>C	c.(424-426)tTc>tCc	p.F142S	MYL2_ENST00000548438.1_Missense_Mutation_p.F128S	NM_000432.3	NP_000423.2	P10916	MLRV_HUMAN	myosin, light chain 2, regulatory, cardiac, slow	142	EF-hand 3.				cardiac myofibril assembly|heart contraction|muscle filament sliding|negative regulation of cell growth|regulation of striated muscle contraction|ventricular cardiac muscle tissue morphogenesis	cytosol|myosin complex|sarcomere	actin monomer binding|calcium ion binding|myosin heavy chain binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)	12						GTCAGGGGGGAAGGCGGCGAA	0.632													G	111348957	A	G	111348957	3	3	513	1	0	0	0	0	1	0	0	0	10123	246	9	3	79	3	MYL2	12	111348957	Missense_Mutation	SNP	A	TCGA-HT-7469-01A-11D-2253-08	30238112	111348957	22502938	31	46350											
PCDH20	64881	broad.mit.edu	37	chr13	61986933	61986933	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaccacaccatctatctcGtttgctatgtaacgagggac	12	11	7	11	2	2	0	0	0	2	0	3	2	2	1	2	1	3	3	2	1	5	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr13:61986933G>A	ENST00000409186.1	-	5	3404	c.1299C>T	c.(1297-1299)aaC>aaT	p.N433N	PCDH20_ENST00000409204.4_Silent_p.N433N			Q8N6Y1	PCD20_HUMAN	protocadherin 20	406	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		CATCTATCTCGTTTGCTATGT	0.418													A	61986933	G	A	61986933	2	1	513	1	0	0	0	0	0	0	0	1	11591	1136	40	1		1	PCDH20	13	61986933	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		61986933	53182945	32	46351											
MYH6	4624	broad.mit.edu	37	chr14	23862627	23862627	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcaacctgaaggtcaTccagggcctgctgatgggcc	7	9	11	14	0	2	2	2	2	0	0	4	2	4	2	5	3	2	1	5	3	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:23862627T>C	ENST00000405093.3	-	23	3099	c.3029A>G	c.(3028-3030)gAt>gGt	p.D1010G	MYH6_ENST00000356287.3_Missense_Mutation_p.D1010G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1010					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CTGAAGGTCATCCAGGGCCTG	0.512													C	23862627	T	C	23862627	3	2	513	1	0	0	0	0	1	0	0	0	10114	1435	50	3	2858	3	MYH6	14	23862627	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08		23862627	83486913	33	46352											
MGAT2	4247	broad.mit.edu	37	chr14	50089217	50089220	+	Frame_Shift_Del	DEL	CTAA	CTAA	-																															aatacatgtttccagaaactCtaactatcagtgaaaagttt																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:50089217_50089220delCTAA	ENST00000305386.2	+	1	1729_1732	c.1231_1234delCTAA	c.(1231-1236)ctaactfs	p.LT411fs	RP11-649E7.5_ENST00000555043.1_RNA	NM_002408.3	NP_002399.1	Q10469	MGAT2_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	411					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|Golgi stack|integral to membrane|membrane fraction	alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)	11	all_epithelial(31;0.0021)|Breast(41;0.0124)					TCCAGAAACTCTAACTATCAGTGA	0.392													-	50089220	CTAA	-	50089217	7	5	513	1	0	1	0	1	0	0	0	0	9618	912	32	0	1233	0	MGAT2	14	50089217	Frame_Shift_Del	DEL	CTAA	TCGA-HT-7469-01A-11D-2253-08	26226590	50089217	57260323	34	46353											
AHNAK2	113146	broad.mit.edu	37	chr14	105421333	105421333	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgtgctgggcatcgctGgaagcccactcttcatcctg	5	9	13	14	2	2	0	1	0	1	0	4	1	3	1	3	3	2	3	3	3	1	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr14:105421333G>A	ENST00000333244.5	-	6	731	c.612C>T	c.(610-612)tcC>tcT	p.S204S		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	204						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGCATCGCTGGAAGCCCACT	0.582													A	105421333	G	A	105421333	2	1	513	1	0	0	0	0	0	0	0	1	415	1335	47	2		2	AHNAK2	14	105421333	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	55332116	105421333	1928207	35	46354											
LRRC49	54839	broad.mit.edu	37	chr15	71300791	71300791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cataccttgttgaagtggacGgggatacactttccctatat	10	13	9	9	1	0	1	0	1	0	0	1	3	1	3	2	3	2	1	2	3	5	7			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr15:71300791G>A	ENST00000260382.5	+	12	1503	c.1243G>A	c.(1243-1245)Ggg>Agg	p.G415R	LRRC49_ENST00000436542.2_3'UTR|LRRC49_ENST00000544974.2_Missense_Mutation_p.G405R|LRRC49_ENST00000560158.2_Missense_Mutation_p.G103R|LRRC49_ENST00000560691.1_Missense_Mutation_p.G121R|LRRC49_ENST00000560369.1_Missense_Mutation_p.G420R|LRRC49_ENST00000443425.2_Missense_Mutation_p.G371R	NM_001199017.1|NM_017691.3	NP_001185946.1|NP_060161.2	Q8IUZ0	LRC49_HUMAN	leucine rich repeat containing 49	415						cytoplasm|microtubule				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(3)|skin(3)	34						TGAAGTGGACGGGGATACACT	0.418													A	71300791	G	A	71300791	3	1	513	1	0	0	0	0	1	0	0	0	9076	1116	39	1	1289	1	LRRC49	15	71300791	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		71300791	31230601	36	46355											
TXNDC11	51061	broad.mit.edu	37	chr16	11785796	11785796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagggggacgctgtgatcGttggcgggtctggcagctgt	5	9	19	8	3	1	1	0	1	1	0	2	2	1	2	0	5	2	5	0	5	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr16:11785796G>A	ENST00000356957.3	-	9	1438	c.1331C>T	c.(1330-1332)aCg>aTg	p.T444M	TXNDC11_ENST00000283033.5_Missense_Mutation_p.T417M			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	444					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						CGCTGTGATCGTTGGCGGGTC	0.642													A	11785796	G	A	11785796	3	1	513	1	0	0	0	0	1	0	0	0	16894	1145	40	1	1646	1	TXNDC11	16	11785796	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		11785796	78568957	37	46356											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	513	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08		7577539	73617671	38	46357											
TP53	7157	broad.mit.edu	37	chr17	7579314	7579314	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctcagggcaactgaccgTgcaagtcacagacttggctg	9	7	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	2	3	3	2	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr17:7579314T>G	ENST00000420246.2	-	4	505	c.373A>C	c.(373-375)Acg>Ccg	p.T125P	TP53_ENST00000359597.4_Missense_Mutation_p.T125P|TP53_ENST00000413465.2_Missense_Mutation_p.T125P|TP53_ENST00000445888.2_Missense_Mutation_p.T125P|TP53_ENST00000269305.4_Missense_Mutation_p.T125P|TP53_ENST00000455263.2_Missense_Mutation_p.T125P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.0?(8)|p.T125P(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.G105_T125del21(1)|p.T125fs*45(1)|p.Y126fs*11(1)|p.Y107fs*44(1)|p.T125fs*24(1)|p.T125A(1)|p.P13fs*18(1)|p.S33fs*23(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)		CAACTGACCGTGCAAGTCACA	0.547		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)			G	7579314	T	G	7579314	3	3	513	1	0	0	0	0	1	0	0	0	16482	1696	59	5	929	5	TP53	17	7579314	Missense_Mutation	SNP	T	TCGA-HT-7469-01A-11D-2253-08	1775	7579314	73615896	39	46358											
MKNK2	2872	broad.mit.edu	37	chr19	2039675	2039675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggccctttgccgccgctgCgccagcttggactgggaggg	3	8	16	14	3	0	0	0	0	0	0	0	2	0	2	4	4	3	2	4	4	0	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:2039675C>T	ENST00000250896.3	-	14	1579	c.1335G>A	c.(1333-1335)gcG>gcA	p.A445A	MKNK2_ENST00000591142.1_Intron|MKNK2_ENST00000309340.7_Intron|MKNK2_ENST00000541165.1_Silent_p.A314A|MKNK2_ENST00000591601.1_Silent_p.A445A	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	445					cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		GCCGCCGCTGCGCCAGCTTGG	0.692													T	2039675	C	T	2039675	2	4	513	1	0	0	0	0	0	0	0	1	9680	755	27	1		1	MKNK2	19	2039675	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		2039675	57089308	40	46359											
SEMA6B	10501	broad.mit.edu	37	chr19	4550923	4550923	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcaggtcaaaggcgcAgacagccgagccagggatgc	10	5	15	11	2	2	1	2	0	0	1	2	3	2	2	2	3	3	1	2	3	1	0			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:4550923A>G	ENST00000586582.1	-	11	1319	c.1009T>C	c.(1009-1011)Tgc>Cgc	p.C337R	SEMA6B_ENST00000586965.1_Missense_Mutation_p.C337R|SEMA6B_ENST00000301293.3_Missense_Mutation_p.C337R	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	337	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity	p.C337S(1)		breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAAAGGCGCAGACAGCCGAG	0.627													G	4550923	A	G	4550923	3	3	513	1	0	0	0	0	1	0	0	0	14133	188	7	3	1685	3	SEMA6B	19	4550923	Missense_Mutation	SNP	A	TCGA-HT-7469-01A-11D-2253-08	2511248	4550923	54578060	41	46360											
DNMT1	1786	broad.mit.edu	37	chr19	10250948	10250948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagccggggttgttcagccGgaacgcctgggccgcagggt	5	6	19	11	4	1	0	1	0	0	0	1	2	1	2	4	6	3	3	4	6	1	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:10250948G>A	ENST00000340748.4	-	32	3767	c.3532C>T	c.(3532-3534)Cgg>Tgg	p.R1178W	DNMT1_ENST00000540357.1_Missense_Mutation_p.R1178W|DNMT1_ENST00000359526.4_Missense_Mutation_p.R1194W|DNMT1_ENST00000589538.1_Intron			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1178	Catalytic.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				chromatin modification|maintenance of DNA methylation|negative regulation of histone H3-K9 methylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of gene expression|positive regulation of histone H3-K4 methylation|transcription, DNA-dependent	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|transcription factor binding			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Ifosfamide(DB01181)|Procainamide(DB01035)	TTGTTCAGCCGGAACGCCTGG	0.612													A	10250948	G	A	10250948	3	1	513	1	0	0	0	0	1	0	0	0	4714	1115	39	1	1354	1	DNMT1	19	10250948	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	5700025	10250948	48878035	42	46361											
UNC13A	23025	broad.mit.edu	37	chr19	17743590	17743590	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggggcaggggacttaCgcagggtactcaggcacgcg	7	5	18	11	3	1	0	1	0	0	0	1	1	1	1	1	7	2	4	1	7	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:17743590C>T	ENST00000428389.2	-	29	3692		c.e29+1		UNC13A_ENST00000551649.1_Splice_Site|UNC13A_ENST00000519716.2_Splice_Site|UNC13A_ENST00000252773.7_Splice_Site|UNC13A_ENST00000552293.1_Splice_Site|UNC13A_ENST00000550896.1_Splice_Site			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)						exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGGGGACTTACGCAGGGTACT	0.552													T	17743590	C	T	17743590	5	4	513	1	0	0	0	0	0	0	1	0	17086	550	19	1	1746	1	UNC13A	19	17743590	Splice_Site	SNP	C	TCGA-HT-7469-01A-11D-2253-08	7492642	17743590	41385393	43	46362											
RYR1	6261	broad.mit.edu	37	chr19	39039015	39039015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgaagccttccaggactaCgtaacggatccccgtggcct	8	9	10	14	3	1	1	0	1	1	0	3	3	3	3	5	3	3	1	5	3	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr19:39039015C>T	ENST00000355481.4	+	88	12353	c.12222C>T	c.(12220-12222)taC>taT	p.Y4074Y	RYR1_ENST00000359596.3_Silent_p.Y4079Y|RYR1_ENST00000360985.3_Silent_p.Y4074Y	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	4079					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	TCCAGGACTACGTAACGGATC	0.552													T	39039015	C	T	39039015	2	4	513	1	0	0	0	0	0	0	0	1	13859	547	19	1		1	RYR1	19	39039015	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	21295425	39039015	20089968	44	46363											
NSFL1C	55968	broad.mit.edu	37	chr20	1445045	1445045	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgtcttcatcccctccGtcctcataaaagctcgctag	10	11	5	15	2	3	0	2	0	1	0	7	0	6	0	4	0	1	2	4	0	4	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:1445045G>A	ENST00000216879.4	-	2	999	c.132C>T	c.(130-132)gaC>gaT	p.D44D	NSFL1C_ENST00000353088.2_Silent_p.D44D|NSFL1C_ENST00000350991.4_Silent_p.D44D|NSFL1C_ENST00000381658.4_Intron|NSFL1C_ENST00000476071.1_Silent_p.D44D	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	44						chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						CATCCCCTCCGTCCTCATAAA	0.522													A	1445045	G	A	1445045	2	1	513	1	0	0	0	0	0	0	0	1	10748	1136	40	1		1	NSFL1C	20	1445045	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08		1445045	61580475	45	46364											
CHGB	1114	broad.mit.edu	37	chr20	5905694	5905694	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaattcagccaaaggggctGactgtcattggagcggtggg	10	8	16	7	1	2	1	2	1	0	0	2	3	2	2	1	5	2	1	1	5	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:5905694G>A	ENST00000378961.4	+	5	2237	c.2033G>A	c.(2032-2034)tGa>tAa	p.*678*		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	0						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						CAAAGGGGCTGACTGTCATTG	0.438													A	5905694	G	A	5905694	2	1	513	1	0	0	0	0	0	0	0	1	3369	1285	45	2		2	CHGB	20	5905694	Silent	SNP	G	TCGA-HT-7469-01A-11D-2253-08	4460649	5905694	57119826	46	46365											
BPI	671	broad.mit.edu	37	chr20	36952337	36952337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccagtgatggagtttccCgctgcccatgaccgcatggt	7	9	11	14	2	0	2	0	2	0	0	1	3	1	3	5	2	1	3	5	2	0	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:36952337C>T	ENST00000262865.4	+	8	923	c.834C>T	c.(832-834)ccC>ccT	p.P278P	CTD-2308N23.2_ENST00000437016.1_RNA|BPI_ENST00000489102.1_3'UTR	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	278					defense response to bacterium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of macrophage activation|negative regulation of tumor necrosis factor production	extracellular region|integral to plasma membrane	lipid binding|lipopolysaccharide binding			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				TGGAGTTTCCCGCTGCCCATG	0.537													T	36952337	C	T	36952337	2	4	513	1	0	0	0	0	0	0	0	1	1499	639	23	1		1	BPI	20	36952337	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08	31046643	36952337	26073183	47	46366											
ZNF217	7764	broad.mit.edu	37	chr20	52198916	52198916	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtaagtgaaagaatctttGtgtgttctcatgtggatctc	9	15	10	7	1	3	2	1	1	3	1	5	3	3	3	1	1	0	2	1	1	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr20:52198916G>C	ENST00000371471.2	-	2	875	c.450C>G	c.(448-450)caC>caG	p.H150Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.H150Q			O75362	ZN217_HUMAN	zinc finger protein 217	150					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			AAGAATCTTTGTGTGTTCTCA	0.423													C	52198916	G	C	52198916	3	2	513	1	0	0	0	0	1	0	0	0	17873	1368	48	4	2712	4	ZNF217	20	52198916	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	15246579	52198916	10826604	48	46367											
MX2	4600	broad.mit.edu	37	chr21	42774042	42774042	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagcccgcccttagcatgctCcagaaagccatgggtgagga	10	6	13	12	1	0	2	0	1	0	1	1	4	1	3	4	2	4	2	4	2	2	1			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:42774042C>T	ENST00000330714.3	+	11	1744	c.1560C>T	c.(1558-1560)ctC>ctT	p.L520L	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	520					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				TTAGCATGCTCCAGAAAGCCA	0.517													T	42774042	C	T	42774042	2	4	513	1	0	0	0	0	0	0	0	1	10074	842	30	2		2	MX2	21	42774042	Silent	SNP	C	TCGA-HT-7469-01A-11D-2253-08		42774042	5355853	49	46368											
ADARB1	104	broad.mit.edu	37	chr21	46624592	46624592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggccatgtaccagcGgatctccaacatagaggacc	11	7	10	13	1	1	1	0	0	1	1	3	3	2	3	5	3	3	1	5	3	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr21:46624592G>A	ENST00000539173.1	+	10	2243	c.1808G>A	c.(1807-1809)cGg>cAg	p.R603Q	ADARB1_ENST00000360697.3_Missense_Mutation_p.R603Q|ADARB1_ENST00000389863.4_Missense_Mutation_p.R603Q|ADARB1_ENST00000348831.4_Missense_Mutation_p.R563Q|ADARB1_ENST00000437626.1_3'UTR	NM_015833.3	NP_056648.1	P78563	RED1_HUMAN	adenosine deaminase, RNA-specific, B1	603	A to I editase.				adenosine to inosine editing|mRNA modification|mRNA processing|RNA processing	nucleoplasm|nucleus	double-stranded RNA adenosine deaminase activity|double-stranded RNA binding|metal ion binding|mRNA binding|RNA binding			endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(1)	17				Colorectal(79;0.115)		ATGTACCAGCGGATCTCCAAC	0.522													A	46624592	G	A	46624592	3	1	513	1	0	0	0	0	1	0	0	0	282	1116	39	1	1838	1	ADARB1	21	46624592	Missense_Mutation	SNP	G	TCGA-HT-7469-01A-11D-2253-08	3850550	46624592	1505303	50	46369											
SEC14L4	284904	broad.mit.edu	37	chr22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccggctgtaggtgttgtCgaagcgcaggacatctgcag	8	9	14	10	3	1	0	0	0	1	0	3	2	2	1	1	3	2	5	1	3	2	2			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:30886219C>T	ENST00000540456.1	-	13	1244	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	RP4-539M6.14_ENST00000610156.1_RNA|SEC14L4_ENST00000392772.2_Silent_p.S326S|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													T	30886219	C	T	30886219	3	4	513	1	0	0	0	0	1	0	0	0	14077	884	31	1	134	1	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08		30886219	20418347	51	46370											
DMC1	11144	broad.mit.edu	37	chr22	38935415	38935415	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccctaaggcgatctggaCggctggagtatgccaagatt	9	10	13	9	2	1	1	0	0	1	1	2	4	2	3	2	4	1	2	2	4	3	3			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chr22:38935415C>T	ENST00000216024.2	-	9	773	c.497G>A	c.(496-498)cGt>cAt	p.R166H	DMC1_ENST00000428462.2_Intron	NM_007068.2	NP_008999.2	Q14565	DMC1_HUMAN	DNA meiotic recombinase 1	166					reciprocal meiotic recombination	condensed nuclear chromosome	ATP binding|DNA binding|DNA-dependent ATPase activity|protein binding			large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11	Melanoma(58;0.0286)					GCGATCTGGACGGCTGGAGTA	0.403								Homologous recombination					T	38935415	C	T	38935415	3	4	513	1	0	0	0	0	1	0	0	0	4618	536	19	1	549	1	DMC1	22	38935415	Missense_Mutation	SNP	C	TCGA-HT-7469-01A-11D-2253-08	8049196	38935415	12369151	52	46371											
ATRX	546	broad.mit.edu	37	chrX	76939510	76939511	+	Frame_Shift_Del	DEL	AA	AA	-																															tcgctcgaaactcggaatttAagtcttcttccaatgcaaga																										TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:76939510_76939511delAA	ENST00000373344.5	-	9	1451_1452	c.1237_1238delTT	c.(1237-1239)ttafs	p.L413fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.L375fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	413					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)	CTCGGAATTTAAGTCTTCTTCC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939511	AA	-	76939510	7	5	513	1	0	1	0	1	0	0	0	0	1213	372	13	0	6348	0	ATRX	23	76939510	Frame_Shift_Del	DEL	AA	TCGA-HT-7469-01A-11D-2253-08		76939510	78331050	53	46372											
RBMX	27316	broad.mit.edu	37	chrX	135956319	135956319	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctagtatctgcttctgccTccccctctatcagatcggct	5	15	6	15	1	5	1	1	0	4	1	7	1	6	1	3	1	2	3	3	1	3	5			TCGA-HT-7469-01A-11D-2253-08	TCGA-HT-7469-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5180e0db-a8cc-475e-b250-87f067cca7c4	4092f0cb-b02b-4506-9b7f-610b1df3c8c8	g.chrX:135956319T>C	ENST00000320676.7	-	9	1312	c.1158A>G	c.(1156-1158)ggA>ggG	p.G386G	RBMX_ENST00000565438.1_Silent_p.G258G|RBMX_ENST00000570135.1_Silent_p.G251G|RBMX_ENST00000562646.1_3'UTR|RBMX_ENST00000431446.3_Intron	NM_002139.3	NP_002130.2	P38159	HNRPG_HUMAN	RNA binding motif protein, X-linked	386						catalytic step 2 spliceosome|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|urinary_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGCTTCTGCCTCCCCCTCTAT	0.483													C	135956319	T	C	135956319	2	2	513	1	0	0	0	0	0	0	0	1	13239	1538	54	3		3	RBMX	23	135956319	Silent	SNP	T	TCGA-HT-7469-01A-11D-2253-08	59016809	135956319	19314241	54	46373											
AGL	178	broad.mit.edu	37	chr1	100346642	100346642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcttctagcatagatcagCgtatgatgctcttccaagta	10	14	8	9	1	4	2	1	1	3	1	5	2	5	2	1	0	3	4	1	0	5	6			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:100346642C>T	ENST00000294724.4	+	15	2388	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V	AGL_ENST00000361915.3_Missense_Mutation_p.A637V|AGL_ENST00000361302.3_Missense_Mutation_p.A621V|AGL_ENST00000361522.4_Missense_Mutation_p.A620V|AGL_ENST00000370163.3_Missense_Mutation_p.A637V|AGL_ENST00000370161.2_Missense_Mutation_p.A621V|AGL_ENST00000370165.3_Missense_Mutation_p.A637V	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	637					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATAGATCAGCGTATGATGCT	0.353													T	100346642	C	T	100346642	3	4	514	1	0	0	0	0	1	0	0	0	384	768	27	1	2033	1	AGL	1	100346642	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		100346642	148903979	1	46374											
CEPT1	10390	broad.mit.edu	37	chr1	111726868	111726868	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgtttgcaatcagattgCgtctcacctgcacatacatg	10	12	8	11	1	2	1	2	0	1	1	3	1	2	1	1	0	4	3	1	0	2	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:111726868C>T	ENST00000545121.1	+	9	1395	c.1187C>T	c.(1186-1188)gCg>gTg	p.A396V	CEPT1_ENST00000357172.4_Missense_Mutation_p.A396V|CEPT1_ENST00000467362.1_3'UTR	NM_001007794.1	NP_001007795.1	Q9Y6K0	CEPT1_HUMAN	choline/ethanolamine phosphotransferase 1	396						endoplasmic reticulum membrane|integral to membrane|nuclear membrane	diacylglycerol cholinephosphotransferase activity|ethanolaminephosphotransferase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)	8		all_cancers(81;2.27e-05)|all_epithelial(167;7.36e-06)|all_lung(203;0.00018)|Lung NSC(277;0.000359)		Lung(183;0.0173)|Colorectal(144;0.0375)|all cancers(265;0.0701)|LUSC - Lung squamous cell carcinoma(189;0.0888)|Epithelial(280;0.103)|COAD - Colon adenocarcinoma(174;0.141)	Choline(DB00122)	AATCAGATTGCGTCTCACCTG	0.398													T	111726868	C	T	111726868	3	4	514	1	0	0	0	0	1	0	0	0	3294	768	27	1	1217	1	CEPT1	1	111726868	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	11380226	111726868	137523753	2	46375											
TCHH	7062	broad.mit.edu	37	chr1	152080904	152080904	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctgttcgtcctccatgaAttttctctcttgttcctggc	3	18	7	13	1	2	1	0	1	2	0	7	1	5	1	3	1	1	3	3	1	1	5	rs71585886		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:152080904A>T	ENST00000368804.1	-	2	4788	c.4789T>A	c.(4789-4791)Ttc>Atc	p.F1597I		NM_007113.2	NP_009044.2	Q07283	TRHY_HUMAN	trichohyalin	1597	23 X 26 AA approximate tandem repeats.				keratinization	cytoskeleton	calcium ion binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(20)|kidney(9)|large_intestine(16)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(4)	105	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCTCCATGAATTTTCTCTCT	0.582													T	152080904	A	T	152080904	3	4	514	1	0	0	0	0	1	0	0	0	15800	101	4	5	1046	5	TCHH	1	152080904	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	40354036	152080904	97169717	3	46376											
CFH	3075	broad.mit.edu	37	chr1	196642210	196642210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatctataaatgccgccCtggatatagatctcttggaa	11	12	9	9	1	2	1	0	0	2	1	3	3	2	3	2	3	1	1	2	3	7	6			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:196642210C>A	ENST00000367429.4	+	2	401	c.161C>A	c.(160-162)cCt>cAt	p.P54H	CFH_ENST00000359637.2_Missense_Mutation_p.P54H|CFH_ENST00000439155.2_Missense_Mutation_p.P54H|CFH_ENST00000496761.1_3'UTR	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	54	Sushi 1.			RP -> IL (in Ref. 5; CAB41739).	complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AAATGCCGCCCTGGATATAGA	0.403													A	196642210	C	A	196642210	3	1	514	1	0	0	0	0	1	0	0	0	3313	681	24	4	167	4	CFH	1	196642210	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	44561306	196642210	52608411	4	46377											
C1orf131	128061	broad.mit.edu	37	chr1	231364922	231364922	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taggttaaattcttgtgtatCcacatctctctccaaaacac	12	14	4	11	0	3	0	0	0	3	0	6	0	4	0	2	1	1	2	2	1	6	5			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:231364922C>T	ENST00000318906.2	-	3	512	c.484G>A	c.(484-486)Gat>Aat	p.D162N	C1orf131_ENST00000366651.3_Missense_Mutation_p.D161N|C1orf131_ENST00000366649.2_Missense_Mutation_p.D162N			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	162										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TCTTGTGTATCCACATCTCTC	0.264													T	231364922	C	T	231364922	3	4	514	1	0	0	0	0	1	0	0	0	2018	855	30	2	417	2	C1orf131	1	231364922	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	34722712	231364922	17885699	5	46378											
RYR2	6262	broad.mit.edu	37	chr1	237872820	237872820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaacccagaagcagaggagCtcttccgcatggtggctgaa	11	7	12	11	1	1	3	0	1	1	2	2	4	2	4	2	3	3	4	2	3	3	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr1:237872820C>T	ENST00000366574.2	+	70	10500	c.10183C>T	c.(10183-10185)Ctc>Ttc	p.L3395F	RYR2_ENST00000360064.6_Missense_Mutation_p.L3393F|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.L3379F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3395					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGGAGCTCTTCCGCAT	0.418													T	237872820	C	T	237872820	3	4	514	1	0	0	0	0	1	0	0	0	13860	797	28	2	10461	2	RYR2	1	237872820	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	6507898	237872820	11377801	6	46379											
ZNF638	27332	broad.mit.edu	37	chr2	71590305	71590305	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgattggaatcctgagAtcctcccatcgagaaggtaa	12	10	9	10	1	0	3	0	2	0	2	5	6	4	4	4	2	0	1	4	2	3	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:71590305A>C	ENST00000409544.1	+	4	2032	c.1402A>C	c.(1402-1404)Atc>Ctc	p.I468L	ZNF638_ENST00000377802.2_Missense_Mutation_p.I468L|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.I468L|ZNF638_ENST00000355812.3_Missense_Mutation_p.I468L	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	468					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						GAATCCTGAGATCCTCCCATC	0.264													C	71590305	A	C	71590305	3	2	514	1	0	0	0	0	1	0	0	0	18156	333	12	5	1412	5	ZNF638	2	71590305	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		71590305	171609068	7	46380											
LRRTM4	80059	broad.mit.edu	37	chr2	76975874	76975874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgccgacctggcgatggTggcgatgaagctgtggtctc	5	10	16	10	3	1	1	0	1	1	0	2	4	1	1	2	4	3	2	2	4	1	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:76975874T>C	ENST00000409911.1	-	3	1946	c.1723A>G	c.(1723-1725)Acc>Gcc	p.T575A	LRRTM4_ENST00000409093.1_Missense_Mutation_p.T574A|LRRTM4_ENST00000409884.1_Missense_Mutation_p.T574A	NM_001134745.1|NM_001282924.1	NP_001128217.1|NP_001269853.1	Q86VH4	LRRT4_HUMAN	leucine rich repeat transmembrane neuronal 4	574						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(6)|lung(49)|ovary(2)|pancreas(3)|prostate(1)|upper_aerodigestive_tract(1)	64				Colorectal(11;0.059)		CTGGCGATGGTGGCGATGAAG	0.617													C	76975874	T	C	76975874	3	2	514	1	0	0	0	0	1	0	0	0	9112	1696	59	3	56	3	LRRTM4	2	76975874	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	5385569	76975874	166223499	8	46381											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000446179.1_Missense_Mutation_p.R132S|IDH1_ENST00000345146.2_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	514	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	132137239	209113113	34086260	9	46382											
AAMP	14	broad.mit.edu	37	chr2	219134766	219134766	+	Frame_Shift_Del	DEL	G	G	-																															ggaagcttagggtctccagtGggggggtgtcagcagcagcc																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:219134766delG	ENST00000248450.4	-	1	214	c.44delC	c.(43-45)ccafs	p.P15fs	AAMP_ENST00000444053.1_Frame_Shift_Del_p.P15fs			Q13685	AAMP_HUMAN	angio-associated, migratory cell protein	15					angiogenesis|cell differentiation|positive regulation of endothelial cell migration|smooth muscle cell migration	cell surface|cytoplasm|plasma membrane	heparin binding	p.L16fs*9(1)		haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(4)|ovary(2)|skin(1)	11		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGTCTCCAGTGGGGGGGTGTC	0.617													-	219134766	G	-	219134766	7	5	514	1	0	1	0	1	0	0	0	0	17	1348	47	0	1304	0	AAMP	2	219134766	Frame_Shift_Del	DEL	G	TCGA-HT-7470-01A-12D-2086-08	10021653	219134766	24064607	10	46383											
SPHKAP	80309	broad.mit.edu	37	chr2	228846502	228846502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctcctcatgcattttgcaGtactggacaactgcatggaa	10	12	9	10	0	1	0	1	0	0	0	2	2	2	2	1	2	6	5	1	2	3	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:228846502G>A	ENST00000392056.3	-	12	5080	c.5034C>T	c.(5032-5034)taC>taT	p.Y1678Y	SPHKAP_ENST00000344657.5_Silent_p.Y1649Y	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1678						cytoplasm	protein binding			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		GCATTTTGCAGTACTGGACAA	0.463													A	228846502	G	A	228846502	2	1	514	1	0	0	0	0	0	0	0	1	15144	1024	36	2		2	SPHKAP	2	228846502	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9711736	228846502	14352871	11	46384											
TRPM8	79054	broad.mit.edu	37	chr2	234905020	234905020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaggtctggaagttccAgaggtacttcctggtgcagg	8	10	14	9	0	1	2	0	1	1	1	3	3	3	3	3	5	2	3	3	5	2	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr2:234905020A>G	ENST00000324695.4	+	22	3030	c.2990A>G	c.(2989-2991)cAg>cGg	p.Q997R	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q575R	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	997						integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TGGAAGTTCCAGAGGTACTTC	0.537													G	234905020	A	G	234905020	3	3	514	1	0	0	0	0	1	0	0	0	16693	188	7	3	3072	3	TRPM8	2	234905020	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	6058518	234905020	8294353	12	46385											
KCNH8	131096	broad.mit.edu	37	chr3	19575424	19575424	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcccaagcagatcagaggagGgcagcttcagtcagggaact	12	6	13	10	0	3	2	3	0	0	2	4	4	4	4	1	3	3	3	1	3	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:19575424G>T	ENST00000328405.2	+	16	3423	c.3157G>T	c.(3157-3159)Ggc>Tgc	p.G1053C		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	1053	Ser-rich.					integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						ATCAGAGGAGGGCAGCTTCAG	0.488													T	19575424	G	T	19575424	3	4	514	1	0	0	0	0	1	0	0	0	8096	1232	43	4	3219	4	KCNH8	3	19575424	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		19575424	178447006	13	46386											
MYRIP	25924	broad.mit.edu	37	chr3	40286033	40286033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggcactgatgagaccCatctggcggatctggaggac	10	7	14	10	1	2	2	0	2	2	1	2	6	2	5	1	5	0	1	1	5	0	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:40286033C>A	ENST00000302541.6	+	13	2539	c.2197C>A	c.(2197-2199)Cat>Aat	p.H733N	MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Missense_Mutation_p.H668N|MYRIP_ENST00000444716.1_Missense_Mutation_p.H733N|MYRIP_ENST00000539167.1_Missense_Mutation_p.H546N|MYRIP_ENST00000396217.3_Missense_Mutation_p.H644N	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	733	Actin-binding.				intracellular protein transport		actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		TGATGAGACCCATCTGGCGGA	0.602													A	40286033	C	A	40286033	3	1	514	1	0	0	0	0	1	0	0	0	10176	594	21	4	2243	4	MYRIP	3	40286033	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	20710609	40286033	157736397	14	46387											
ABI3BP	25890	broad.mit.edu	37	chr3	100489774	100489774	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagggactgttgtcaggcttTtggatgtatcgcacatgagg	8	12	14	7	1	1	1	1	1	0	0	2	3	1	3	0	4	0	4	0	4	1	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:100489774T>C	ENST00000471714.1	-	61	4636	c.4527A>G	c.(4525-4527)caA>caG	p.Q1509Q	ABI3BP_ENST00000284322.5_Silent_p.Q807Q|ABI3BP_ENST00000383691.4_Silent_p.Q761Q			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	807						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						TGTCAGGCTTTTGGATGTATC	0.468													C	100489774	T	C	100489774	2	2	514	1	0	0	0	0	0	0	0	1	91	1838	64	3		3	ABI3BP	3	100489774	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	60203741	100489774	97532656	15	46388											
GPR149	344758	broad.mit.edu	37	chr3	154146852	154146852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacgtaggagctggagcagtCcaccaggcagccccagggcg	9	4	15	13	2	0	0	0	0	0	0	1	2	1	2	4	4	4	4	4	4	2	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr3:154146852C>T	ENST00000389740.2	-	1	652	c.553G>A	c.(553-555)Gac>Aac	p.D185N		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	185						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			CTGGAGCAGTCCACCAGGCAG	0.657													T	154146852	C	T	154146852	3	4	514	1	0	0	0	0	1	0	0	0	6708	855	30	2	1658	2	GPR149	3	154146852	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	53657078	154146852	43875578	16	46389											
STATH	6779	broad.mit.edu	37	chr4	70866654	70866654	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaaccacaataccaacaAtataccttttaatatcatca	18	11	0	12	0	2	0	2	0	0	0	2	0	2	0	4	0	5	0	4	0	10	7			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:70866654A>G	ENST00000246895.4	+	5	288	c.177A>G	c.(175-177)caA>caG	p.Q59Q	STATH_ENST00000381060.2_Silent_p.Q49Q	NM_003154.2	NP_003145.1	P02808	STAT_HUMAN	statherin	59	Hydrophobic; inhibits precipitation of calcium phosphate salts.				biomineral tissue development|negative regulation of bone mineralization|ossification|saliva secretion	extracellular region	extracellular matrix constituent, lubricant activity|hydroxyapatite binding|protein binding|structural constituent of tooth enamel			lung(2)|skin(1)	3						AATACCAACAATATACCTTTT	0.373													G	70866654	A	G	70866654	2	3	514	1	0	0	0	0	0	0	0	1	15367	98	4	3		3	STATH	4	70866654	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70866654	120287622	17	46390											
OTUD4	54726	broad.mit.edu	37	chr4	146077123	146077125	+	In_Frame_Del	DEL	CAG	CAG	-																															aggtttaaatccattcacatCagcagcagcagcagcagtct																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr4:146077123_146077125delCAG	ENST00000454497.2	-	8	595_597	c.458_460delCTG	c.(457-462)gctgat>gat	p.A153del	OTUD4_ENST00000455611.2_5'UTR|OTUD4_ENST00000447906.2_In_Frame_Del_p.A218del	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	218	OTU.						protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CCATTCACATCAGCAGCAGCAGC	0.34													-	146077125	CAG	-	146077123	7	5	514	1	0	1	0	1	0	0	0	0	11390	826	29	0	2745	0	OTUD4	4	146077123	In_Frame_Del	DEL	CAG	TCGA-HT-7470-01A-12D-2086-08	75210469	146077123	45077153	18	46391											
CAPSL	133690	broad.mit.edu	37	chr5	35910530	35910530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccatctttatcaaacctccGgaaaagttcttccacctctt	10	14	3	14	1	4	0	1	0	3	0	7	1	7	1	5	1	1	1	5	1	4	5			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:35910530G>A	ENST00000397367.2	-	3	379	c.253C>T	c.(253-255)Cgg>Tgg	p.R85W	CAPSL_ENST00000397366.1_Missense_Mutation_p.R85W|CAPSL_ENST00000514524.1_Missense_Mutation_p.R85W	NM_144647.3	NP_653248.3	Q8WWF8	CAPSL_HUMAN	calcyphosine-like	85	EF-hand 2.		R -> Q (in dbSNP:rs1445898).			cytoplasm	calcium ion binding	p.R85R(2)		central_nervous_system(1)|kidney(1)|large_intestine(5)|lung(10)|skin(1)|urinary_tract(1)	19	all_lung(31;0.000268)		Lung(74;0.111)|COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.167)|Colorectal(62;0.202)			TCAAACCTCCGGAAAAGTTCT	0.358													A	35910530	G	A	35910530	3	1	514	1	0	0	0	0	1	0	0	0	2665	1115	39	1	385	1	CAPSL	5	35910530	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		35910530	145004730	19	46392											
RNF145	153830	broad.mit.edu	37	chr5	158621725	158621725	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggggtcatattcttaccTggaaatttgatgtccagcat	11	14	9	7	0	2	1	1	1	1	0	3	2	3	2	2	3	2	1	2	3	4	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:158621725T>C	ENST00000424310.2	-	3	651	c.292A>G	c.(292-294)Agg>Ggg	p.R98G	RNF145_ENST00000274542.2_Splice_Site_p.R126G|RNF145_ENST00000520638.1_Splice_Site_p.R112G|RNF145_ENST00000521606.2_Splice_Site_p.R115G|RNF145_ENST00000518802.1_Splice_Site_p.R128G|RNF145_ENST00000519865.1_Splice_Site_p.R98G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	98						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TATTCTTACCTGGAAATTTGA	0.363													C	158621725	T	C	158621725	5	2	514	1	0	0	0	0	0	0	1	0	13538	1594	55	3	1735	3	RNF145	5	158621725	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	122711195	158621725	22293535	20	46393											
FAM153B	202134	broad.mit.edu	37	chr5	175533580	175533580	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgcaggtggacccagcCacgccggcaaagagtacgta	12	5	13	11	3	0	2	0	0	0	2	0	3	0	3	3	3	3	4	3	3	4	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr5:175533580C>A	ENST00000253490.4	+	16	906	c.849C>A	c.(847-849)gcC>gcA	p.A283A	FAM153B_ENST00000510151.1_Silent_p.A206A|FAM153B_ENST00000512862.1_Silent_p.A74A|FAM153B_ENST00000515817.1_Silent_p.A206A			P0C7A2	F153B_HUMAN	family with sequence similarity 153, member B	283										endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	16	all_cancers(89;0.00406)|Renal(175;0.000269)|Lung NSC(126;0.0103)|all_lung(126;0.0164)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)	Kidney(146;0.0965)		TGGACCCAGCCACGCCGGCAA	0.473													A	175533580	C	A	175533580	2	1	514	1	0	0	0	0	0	0	0	1	5506	581	21	4		4	FAM153B	5	175533580	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	16911855	175533580	5381680	21	46394											
COL19A1	1310	broad.mit.edu	37	chr6	70877920	70877920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcacctctttcctaagggtAttccatttaatgaacgaaac	12	13	5	11	1	2	1	1	1	1	0	4	2	4	1	3	1	2	1	3	1	5	6			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:70877920A>G	ENST00000322773.4	+	38	2551	c.2449A>G	c.(2449-2451)Att>Gtt	p.I817V	COL19A1_ENST00000393344.1_Missense_Mutation_p.I439V	NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	817	Triple-helical region 4 (COL4).			GIPFNERN -> VSCSRLKI (in Ref. 6; AAA36358).	cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCCTAAGGGTATTCCATTTAA	0.279													G	70877920	A	G	70877920	3	3	514	1	0	0	0	0	1	0	0	0	3707	449	16	3	2595	3	COL19A1	6	70877920	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		70877920	100237147	22	46395											
DOPEY1	23033	broad.mit.edu	37	chr6	83839856	83839856	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcagactgtgagcatgtgCagcctccacagtggctccag	8	10	11	12	0	1	2	1	1	0	1	3	2	3	2	3	1	3	3	3	1	0	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:83839856C>T	ENST00000349129.2	+	17	2616	c.2356C>T	c.(2356-2358)Cag>Tag	p.Q786*	DOPEY1_ENST00000369739.3_Nonsense_Mutation_p.Q777*|DOPEY1_ENST00000237163.5_Nonsense_Mutation_p.Q767*	NM_015018.3	NP_055833.2	Q5JWR5	DOP1_HUMAN	dopey family member 1	786					protein transport					breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(16)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	67		all_cancers(76;2.29e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.00203)		BRCA - Breast invasive adenocarcinoma(397;0.053)		TGAGCATGTGCAGCCTCCACA	0.418													T	83839856	C	T	83839856	4	4	514	1	0	0	0	0	0	1	0	0	4746	711	25	2	2414	2	DOPEY1	6	83839856	Nonsense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12961936	83839856	87275211	23	46396											
PRDM1	639	broad.mit.edu	37	chr6	106555167	106555167	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaaggaaattctggccGtggtcagaaaagagaaagaa	17	6	14	4	1	2	4	1	0	1	4	2	7	2	5	1	4	0	0	1	4	6	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:106555167G>A	ENST00000369096.4	+	7	2518	c.2284G>A	c.(2284-2286)Gtg>Atg	p.V762M	PRDM1_ENST00000369091.2_Missense_Mutation_p.V726M|PRDM1_ENST00000369089.3_Missense_Mutation_p.V628M	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	762					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		AATTCTGGCCGTGGTCAGAAA	0.478			"D, N, Mis, F, S"		DLBCL								A	106555167	G	A	106555167	3	1	514	1	0	0	0	0	1	0	0	0	12536	1145	40	1	2323	1	PRDM1	6	106555167	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	22715311	106555167	64559900	24	46397											
MICAL1	64780	broad.mit.edu	37	chr6	109770958	109770958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcatgttttctggggatgTctgtgacagaagctggtaca	9	13	13	6	0	2	2	0	1	2	1	2	3	2	3	0	3	3	4	0	3	2	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:109770958T>C	ENST00000368952.4	-	10	1683	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	MICAL1_ENST00000358807.3_Missense_Mutation_p.T446A|MICAL1_ENST00000358577.3_Missense_Mutation_p.T360A			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	446					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCTGGGGATGTCTGTGACAGA	0.607													C	109770958	T	C	109770958	3	2	514	1	0	0	0	0	1	0	0	0	9644	1667	58	3	1931	3	MICAL1	6	109770958	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	3215791	109770958	61344109	25	46398											
TRDN	10345	broad.mit.edu	37	chr6	123786032	123786033	+	Frame_Shift_Ins	INS	-	-	A																															ctacaatagagatctttaagINSaaaaaaaaaagtacttgcct																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:123786032_123786033insA	ENST00000546248.1	-	9	1022_1023	c.889_890insT	c.(889-891)tctfs	p.S297fs	RP11-532N4.2_ENST00000418467.2_RNA|RP11-532N4.2_ENST00000427828.1_RNA|TRDN_ENST00000398178.3_Intron|RP11-532N4.2_ENST00000589182.1_RNA|TRDN_ENST00000334268.4_Intron|RP11-532N4.2_ENST00000587106.2_RNA|RP11-532N4.2_ENST00000434768.1_RNA	NM_001256020.1	NP_001242949.1	Q13061	TRDN_HUMAN	triadin	0					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGATCTTTAAGAAAAAAAAAAG	0.386													A	123786033	-	A	123786032	7	5	514	1	0	1	1	0	0	0	0	0	16569	957	33	0		0	TRDN	6	123786032	Frame_Shift_Ins	INS	-	TCGA-HT-7470-01A-12D-2086-08	14015074	123786032	47329035	26	46399											
TULP4	56995	broad.mit.edu	37	chr6	158850782	158850782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtgagtgatttcacGtggagccatgatggaactca	11	9	12	9	1	2	3	2	3	0	0	2	5	2	5	2	3	2	0	2	3	2	1	rs142500811		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr6:158850782G>A	ENST00000367097.3	+	3	1753	c.396G>A	c.(394-396)acG>acA	p.T132T	TULP4_ENST00000367094.2_Silent_p.T132T	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	132					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GTGATTTCACGTGGAGCCATG	0.408													A	158850782	G	A	158850782	2	1	514	1	0	0	0	0	0	0	0	1	16878	1132	40	1		1	TULP4	6	158850782	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	35064750	158850782	12264285	27	46400											
SRPK2	6733	broad.mit.edu	37	chr7	104782648	104782648	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaattttatgtcgtccattTggcaattcaccattgaattg	10	16	8	7	1	1	1	1	1	0	0	3	2	2	2	2	2	0	1	2	2	4	6	rs56003957	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr7:104782648T>C	ENST00000357311.3	-	10	1488	c.1317A>G	c.(1315-1317)ccA>ccG	p.P439P	SRPK2_ENST00000489828.1_Silent_p.P439P|SRPK2_ENST00000393651.3_Silent_p.P450P	NM_001278273.1|NM_182691.1	NP_001265202.1|NP_872633.1	P78362	SRPK2_HUMAN	SRSF protein kinase 2	439	Protein kinase.				angiogenesis|cell differentiation|intracellular protein kinase cascade|negative regulation of viral genome replication|nuclear speck organization|positive regulation of cell cycle|positive regulation of cell proliferation|positive regulation of gene expression|positive regulation of neuron apoptosis|positive regulation of viral genome replication|spliceosome assembly	cytoplasm|nucleolus	14-3-3 protein binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(11)|large_intestine(6)|lung(4)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	35						GTCGTCCATTTGGCAATTCAC	0.443													C	104782648	T	C	104782648	2	2	514	1	0	0	0	0	0	0	0	1	15256	1799	63	3		3	SRPK2	7	104782648	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		104782648	54356015	28	46401											
FOXB2	442425	broad.mit.edu	37	chr9	79635448	79635448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggagggctgcccttggcgtCcgtcatgcaccacctgggct	4	9	14	14	2	1	0	1	0	0	0	2	1	2	1	4	4	2	3	4	4	0	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:79635448C>T	ENST00000376708.1	+	1	878	c.878C>T	c.(877-879)tCc>tTc	p.S293F		NM_001013735.1	NP_001013757.1	Q5VYV0	FOXB2_HUMAN	forkhead box B2	293					brain development|embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|lung(8)|ovary(1)	10						CCCTTGGCGTCCGTCATGCAC	0.662													T	79635448	C	T	79635448	3	4	514	1	0	0	0	0	1	0	0	0	6042	855	30	2	880	2	FOXB2	9	79635448	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		79635448	61577983	29	46402											
NOTCH1	4851	broad.mit.edu	37	chr9	139411837	139411837	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagtgcacaccctcgtagCctgtggggtggggcaacagt	7	7	15	12	2	0	0	0	0	0	0	1	0	0	0	2	4	3	4	2	4	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr9:139411837C>A	ENST00000277541.6	-	9	1517	c.1442G>T	c.(1441-1443)gGc>gTc	p.G481V		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	481	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCTCGTAGCCTGTGGGGTG	0.647			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139411837	C	A	139411837	5	1	514	1	0	0	0	0	0	0	1	0	10623	753	26	4	6329	4	NOTCH1	9	139411837	Splice_Site	SNP	C	TCGA-HT-7470-01A-12D-2086-08	59776389	139411837	1801594	30	46403											
CUBN	8029	broad.mit.edu	37	chr10	16990512	16990512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaccgtggtgtggaaacccCcagcactgatgctagaatca	11	8	11	11	1	1	3	1	2	0	1	1	4	1	4	3	2	3	2	3	2	3	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr10:16990512C>G	ENST00000377833.4	-	35	5239	c.5174G>C	c.(5173-5175)gGg>gCg	p.G1725A		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1725	CUB 11.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GTGGAAACCCCCAGCACTGAT	0.512													G	16990512	C	G	16990512	3	3	514	1	0	0	0	0	1	0	0	0	4084	623	22	4	5829	4	CUBN	10	16990512	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		16990512	118544235	31	46404											
ANO9	338440	broad.mit.edu	37	chr11	429780	429780	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagagagccatgaagatggcGaacaccaccgtgccatcatt	13	6	10	12	2	1	3	1	1	0	2	1	5	1	3	4	1	3	0	4	1	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:429780G>A	ENST00000332826.6	-	10	894	c.810C>T	c.(808-810)ttC>ttT	p.F270F		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	270						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						TGAAGATGGCGAACACCACCG	0.662													A	429780	G	A	429780	2	1	514	1	0	0	0	0	0	0	0	1	704	1049	37	1		1	ANO9	11	429780	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		429780	134576736	32	46405											
OR52E8	390079	broad.mit.edu	37	chr11	5878264	5878264	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatacaggatcctgacAtaggagagaataataaggat	18	7	10	6	0	0	2	0	1	0	1	1	6	1	5	1	3	2	1	1	3	5	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:5878264A>C	ENST00000537935.1	-	1	700	c.669T>G	c.(667-669)taT>taG	p.Y223*	TRIM5_ENST00000380027.1_Intron	NM_001005168.1	NP_001005168.1	Q6IFG1	O52E8_HUMAN	olfactory receptor, family 52, subfamily E, member 8	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.114)		Epithelial(150;2.37e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGATCCTGACATAGGAGAGAA	0.463													C	5878264	A	C	5878264	4	2	514	1	0	0	0	0	0	1	0	0	11194	224	8	5	286	5	OR52E8	11	5878264	Nonsense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08	5448484	5878264	129128252	33	46406											
LRP4	4038	broad.mit.edu	37	chr11	46893136	46893136	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctgccgcagtttcccattGaggtcagcactctcgatccg	7	10	9	15	3	2	1	1	1	1	0	5	2	4	1	4	1	2	3	4	1	0	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:46893136G>A	ENST00000378623.1	-	31	4874	c.4632C>T	c.(4630-4632)ctC>ctT	p.L1544L	LRP4-AS1_ENST00000531719.1_RNA|LRP4-AS1_ENST00000502049.2_RNA	NM_002334.3	NP_002325.2	O75096	LRP4_HUMAN	low density lipoprotein receptor-related protein 4	1544					endocytosis|negative regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to membrane	calcium ion binding|receptor activity			breast(7)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(24)|ovary(3)|pancreas(2)|prostate(5)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	70				Lung(87;0.159)		GTTTCCCATTGAGGTCAGCAC	0.557													A	46893136	G	A	46893136	2	1	514	1	0	0	0	0	0	0	0	1	9029	1277	45	2		2	LRP4	11	46893136	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	41014872	46893136	88113380	34	46407											
OR4X2	119764	broad.mit.edu	37	chr11	48266883	48266883	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccccaaactcatctcagaTctgctggctgaaaggaaagt	12	8	9	12	0	3	2	2	1	2	1	4	3	3	3	2	2	2	2	2	2	3	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:48266883T>C	ENST00000302329.3	+	1	276	c.228T>C	c.(226-228)gaT>gaC	p.D76D		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	76					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						TCATCTCAGATCTGCTGGCTG	0.512													C	48266883	T	C	48266883	2	2	514	1	0	0	0	0	0	0	0	1	11161	1432	50	3		3	OR4X2	11	48266883	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08	1373747	48266883	86739633	35	46408											
ZW10	9183	broad.mit.edu	37	chr11	113614641	113614641	+	Frame_Shift_Del	DEL	T	T	-																															aggaatgttggtccaatgtaTtttcaggctctaaattcatc																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113614641delT	ENST00000200135.3	-	10	1538	c.1394delA	c.(1393-1395)aatfs	p.N465fs		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	465					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		GTCCAATGTATTTTCAGGCTC	0.418													-	113614641	T	-	113614641	7	5	514	1	0	1	0	1	0	0	0	0	18344	1493	52	0	973	0	ZW10	11	113614641	Frame_Shift_Del	DEL	T	TCGA-HT-7470-01A-12D-2086-08	65347758	113614641	21391875	36	46409											
HTR3B	9177	broad.mit.edu	37	chr11	113803068	113803068	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgaactcatctgggacCattgagaactataagcccat	13	11	8	9	0	2	2	1	2	1	1	2	4	2	3	2	1	3	0	2	1	5	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:113803068C>A	ENST00000260191.2	+	5	683	c.426C>A	c.(424-426)acC>acA	p.T142T	HTR3B_ENST00000537778.1_Silent_p.T131T	NM_006028.4	NP_006019.1	O95264	5HT3B_HUMAN	5-hydroxytryptamine (serotonin) receptor 3B, ionotropic	142					synaptic transmission	integral to plasma membrane|postsynaptic membrane	serotonin receptor activity|serotonin-activated cation-selective channel activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(11)	20		all_cancers(61;6.81e-18)|all_epithelial(67;6.67e-11)|all_hematologic(158;4.67e-05)|Melanoma(852;0.000316)|Acute lymphoblastic leukemia(157;0.000976)|Breast(348;0.0101)|Prostate(24;0.0154)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.04e-06)|Epithelial(105;1.98e-05)|all cancers(92;0.000201)|OV - Ovarian serous cystadenocarcinoma(223;0.151)		CATCTGGGACCATTGAGAACT	0.433													A	113803068	C	A	113803068	2	1	514	1	0	0	0	0	0	0	0	1	7503	581	21	4		4	HTR3B	11	113803068	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08	188427	113803068	21203448	37	46410											
TECTA	7007	broad.mit.edu	37	chr11	121000839	121000839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcaatgagtcagagctcTgtgactctgtggcccggtat	7	10	15	9	1	3	3	1	2	2	1	3	3	3	3	1	4	1	3	1	4	2	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:121000839T>C	ENST00000392793.1	+	10	3131	c.2860T>C	c.(2860-2862)Tgt>Cgt	p.C954R	TECTA_ENST00000264037.2_Missense_Mutation_p.C954R			O75443	TECTA_HUMAN	tectorin alpha	954					cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GTCAGAGCTCTGTGACTCTGT	0.602													C	121000839	T	C	121000839	3	2	514	1	0	0	0	0	1	0	0	0	15847	1580	55	3	2894	3	TECTA	11	121000839	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	7197771	121000839	14005677	38	46411											
SNX19	399979	broad.mit.edu	37	chr11	130750571	130750571	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctcagcagccagtttctGctcttgggtccttacgggcc	4	14	10	13	1	3	0	1	0	3	0	5	0	4	0	3	2	4	3	3	2	1	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr11:130750571G>A	ENST00000265909.4	-	9	3273	c.2704C>T	c.(2704-2706)Cag>Tag	p.Q902*	SNX19_ENST00000530356.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000528555.1_Nonsense_Mutation_p.Q282*|SNX19_ENST00000534726.1_Nonsense_Mutation_p.Q142*|SNX19_ENST00000539184.1_Nonsense_Mutation_p.Q345*|SNX19_ENST00000533318.1_5'UTR|SNX19_ENST00000426933.2_Nonsense_Mutation_p.Q70*|SNX19_ENST00000545537.1_Nonsense_Mutation_p.Q142*	NM_014758.2	NP_055573	Q92543	SNX19_HUMAN	sorting nexin 19	902					cell communication|protein transport	cytoplasmic vesicle membrane	phosphatidylinositol binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(8)|ovary(3)|prostate(1)|skin(6)|urinary_tract(1)	35	all_hematologic(175;0.0597)	Lung NSC(97;0.000272)|all_lung(97;0.000608)|Breast(109;0.000962)|all_neural(223;0.0298)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;0.0195)|Lung(977;0.233)		GCCAGTTTCTGCTCTTGGGTC	0.517													A	130750571	G	A	130750571	4	1	514	1	0	0	0	0	0	1	0	0	14984	1328	46	2	286	2	SNX19	11	130750571	Nonsense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9749732	130750571	4255945	39	46412											
HMGA2	8091	broad.mit.edu	37	chr12	66221789	66221789	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacaattaggaaccaacCggtgagccctctcctaagag	12	7	8	14	1	2	2	1	1	1	1	3	3	2	3	5	2	3	0	5	2	5	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:66221789C>T	ENST00000541363.1	+	2	493	c.120C>T	c.(118-120)acC>acT	p.T40T	HMGA2_ENST00000403681.2_Silent_p.T40T|HMGA2_ENST00000393578.3_Silent_p.T40T|HMGA2_ENST00000354636.3_Silent_p.T40T|HMGA2_ENST00000425208.2_Silent_p.T40T|HMGA2_ENST00000536545.1_Silent_p.T40T|HMGA2_ENST00000393577.3_Silent_p.T40T			P52926	HMGA2_HUMAN	high mobility group AT-hook 2	40					cell division|chromatin organization|mitosis|multicellular organismal development|regulation of growth|transcription, DNA-dependent	chromatin	AT DNA binding		HMGA2/RAD51B(11)|HMGA2/CCNB1IP1(2)|HMGA2/WIF1_ENST00000286574(14)|HMGA2/ALDH2_ENST00000261733(2)|HMGA2/EBF1(2)|HMGA2/LHFP(2)|HMGA2/NFIB_ENST00000397581(8)|HMGA2/LPP(161)|HMGA2/FHIT_ENST00000476844(4)|HMGA2/COX6C(2)	lung(2)	2	all_cancers(1;5.78e-46)		GBM - Glioblastoma multiforme(1;0.00179)|LUSC - Lung squamous cell carcinoma(43;0.156)	GBM - Glioblastoma multiforme(28;0.0386)		AGGAACCAACCGGTGAGCCCT	0.448			T	" LHFP, RAD51L1, LPP, COX6C, CMKOR1, NFIB, ALDH2, CCNB1IP1, EBF1, WIF1, FHIT"	"lipoma, leiomyoma, pleiomorphic salivary gland adenoma"								T	66221789	C	T	66221789	2	4	514	1	0	0	0	0	0	0	0	1	7279	639	23	1		1	HMGA2	12	66221789	Silent	SNP	C	TCGA-HT-7470-01A-12D-2086-08		66221789	67630106	40	46413											
PTPRB	5787	broad.mit.edu	37	chr12	70954486	70954486	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgactttattgctgagaTctccactgtgagttaccacc	8	14	8	11	0	1	3	0	3	1	1	2	4	1	3	3	0	2	2	3	0	2	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr12:70954486T>C	ENST00000334414.6	-	17	4441	c.4397A>G	c.(4396-4398)gAt>gGt	p.D1466G	PTPRB_ENST00000551525.1_Missense_Mutation_p.D1465G|PTPRB_ENST00000451516.2_Missense_Mutation_p.D1158G|PTPRB_ENST00000550358.1_Missense_Mutation_p.D1378G|PTPRB_ENST00000261266.5_Missense_Mutation_p.D1248G|PTPRB_ENST00000538708.1_Missense_Mutation_p.D1158G|PTPRB_ENST00000550857.1_Missense_Mutation_p.D1158G	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1248	Fibronectin type-III 17.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			ATTGCTGAGATCTCCACTGTG	0.512													C	70954486	T	C	70954486	3	2	514	1	0	0	0	0	1	0	0	0	12884	1435	50	3	2322	3	PTPRB	12	70954486	Missense_Mutation	SNP	T	TCGA-HT-7470-01A-12D-2086-08	4732697	70954486	62897409	41	46414											
SHF	90525	broad.mit.edu	37	chr15	45470424	45470424	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttcagggaccttctcTggggctcctgaagctcctgc	5	13	10	13	0	3	1	2	1	1	0	6	2	5	2	3	3	2	2	3	3	1	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:45470424T>C	ENST00000290894.8	-	3	878	c.384A>G	c.(382-384)ccA>ccG	p.P128P	SHF_ENST00000318390.6_Silent_p.P185P|RP11-519G16.2_ENST00000560034.1_RNA|SHF_ENST00000561091.1_5'UTR|SHF_ENST00000458022.2_5'UTR|SHF_ENST00000560734.1_Silent_p.P193P|SHF_ENST00000560471.1_Silent_p.P193P|SHF_ENST00000560540.1_Silent_p.P193P	NM_138356.2	NP_612365	B3KTY1	B3KTY1_HUMAN	Src homology 2 domain containing F	128										endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(2)	12		all_cancers(109;8.13e-11)|all_epithelial(112;6.29e-09)|Lung NSC(122;3.57e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.1e-16)|GBM - Glioblastoma multiforme(94;5.98e-06)		GGACCTTCTCTGGGGCTCCTG	0.567													C	45470424	T	C	45470424	2	2	514	1	0	0	0	0	0	0	0	1	14371	1567	55	3		3	SHF	15	45470424	Silent	SNP	T	TCGA-HT-7470-01A-12D-2086-08		45470424	57060968	42	46415											
TMC3	342125	broad.mit.edu	37	chr15	81625071	81625071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaggtgaccctcaaaatcttCattccacgacttgtagtgca	12	11	7	11	1	3	1	2	1	1	0	4	2	4	1	2	1	1	2	2	1	4	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr15:81625071C>T	ENST00000558726.1	-	22	3130	c.2995G>A	c.(2995-2997)Gaa>Aaa	p.E999K	RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.E998K|RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560973.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	998						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TCAAAATCTTCATTCCACGAC	0.562													T	81625071	C	T	81625071	3	4	514	1	0	0	0	0	1	0	0	0	16086	835	29	2	314	2	TMC3	15	81625071	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	36154647	81625071	20906321	43	46416											
RHBDF1	64285	broad.mit.edu	37	chr16	111434	111434	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacgtacttgacgttctcGtagaccccgcggttccgcag	6	10	11	14	6	1	2	0	1	1	1	3	2	2	2	3	1	2	6	3	1	2	5			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:111434G>A	ENST00000262316.6	-	10	1486	c.1344C>T	c.(1342-1344)taC>taT	p.Y448Y	RHBDF1_ENST00000454039.2_Silent_p.Y448Y	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	448					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGACGTTCTCGTAGACCCCGC	0.716													A	111434	G	A	111434	2	1	514	1	0	0	0	0	0	0	0	1	13408	1140	40	1		1	RHBDF1	16	111434	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08		111434	90243319	44	46417											
PRSS22	64063	broad.mit.edu	37	chr16	2906139	2906139	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgagcagagaacctgcGcagtggtgggtcccattctt	7	10	14	10	1	1	2	0	1	1	1	2	3	2	2	2	3	3	2	2	3	1	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:2906139G>A	ENST00000161006.3	-	3	290	c.225C>T	c.(223-225)tgC>tgT	p.C75C	PRSS22_ENST00000571228.1_Silent_p.C75C|PRSS22_ENST00000574768.1_5'UTR	NM_022119.3	NP_071402.1	Q9GZN4	BSSP4_HUMAN	protease, serine, 22	75	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(2)|skin(2)	10						GAGAACCTGCGCAGTGGTGGG	0.617													A	2906139	G	A	2906139	2	1	514	1	0	0	0	0	0	0	0	1	12704	1079	38	1		1	PRSS22	16	2906139	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	2794705	2906139	87448614	45	46418											
ERCC4	2072	broad.mit.edu	37	chr16	14031642	14031642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtttactttcttatatacGgaggttcaactgaggaacaa	12	13	10	6	1	2	1	1	1	1	0	2	3	2	3	0	4	4	2	0	4	7	7			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:14031642G>A	ENST00000311895.7	+	9	1840	c.1831G>A	c.(1831-1833)Gga>Aga	p.G611R		NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 4	611			Missing (in XP-F).		double-strand break repair via homologous recombination|meiotic mismatch repair|negative regulation of telomere maintenance|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision, 3'-to lesion|nucleotide-excision repair, DNA incision, 5'-to lesion|resolution of meiotic recombination intermediates|telomere maintenance via telomere shortening|transcription-coupled nucleotide-excision repair	nuclear chromosome, telomeric region|nucleoplasm|nucleotide-excision repair factor 1 complex	damaged DNA binding|protein C-terminus binding|protein N-terminus binding|single-stranded DNA binding|single-stranded DNA specific endodeoxyribonuclease activity			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TCTTATATACGGAGGTTCAAC	0.363			"Mis, N, F"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	14031642	G	A	14031642	3	1	514	1	0	0	0	0	1	0	0	0	5256	1117	39	1	1865	1	ERCC4	16	14031642	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	11125503	14031642	76323111	46	46419											
ANKRD11	29123	broad.mit.edu	37	chr16	89348104	89348104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccttgagcttggggtctcCggaccggtgcctcagcttct	3	12	12	14	2	3	1	1	1	2	0	5	2	4	2	4	4	3	2	4	4	0	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr16:89348104C>T	ENST00000301030.4	-	9	5306	c.4846G>A	c.(4846-4848)Gga>Aga	p.G1616R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.G1616R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1616	Lys-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TTGGGGTCTCCGGACCGGTGC	0.607													T	89348104	C	T	89348104	3	4	514	1	0	0	0	0	1	0	0	0	639	661	23	1	3165	1	ANKRD11	16	89348104	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	75316462	89348104	1006649	47	46420											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	514	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		7577121	73618089	48	46421											
MYO19	80179	broad.mit.edu	37	chr17	34866651	34866651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcgggcgcagggcttcCggaacacctgctgctgtctg	4	8	15	14	4	1	0	0	0	1	0	3	1	2	1	2	4	3	5	2	4	1	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr17:34866651C>T	ENST00000431794.3	-	13	1613	c.1091G>A	c.(1090-1092)cGg>cAg	p.R364Q	MYO19_ENST00000268852.9_Missense_Mutation_p.R364Q	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	364	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCAGGGCTTCCGGAACACCTG	0.627													T	34866651	C	T	34866651	3	4	514	1	0	0	0	0	1	0	0	0	10143	652	23	1	1877	1	MYO19	17	34866651	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	27289530	34866651	46328559	49	46422											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													A	12575498	G	A	12575498	3	1	514	1	0	0	0	0	1	0	0	0	18214	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		12575498	46553485	50	46423											
GCDH	2639	broad.mit.edu	37	chr19	13006897	13006897	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagcccactacaactcAtccaacaagagctacaccct	15	5	4	17	0	1	2	1	0	0	2	2	2	2	2	4	0	6	1	4	0	5	2			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:13006897A>G	ENST00000222214.5	+	7	808	c.597A>G	c.(595-597)tcA>tcG	p.S199S	GCDH_ENST00000422947.2_Silent_p.S155S|GCDH_ENST00000457854.1_Silent_p.S199S|GCDH_ENST00000591470.1_Silent_p.S199S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	199					lysine catabolic process	mitochondrial matrix	flavin adenine dinucleotide binding|glutaryl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19						ACTACAACTCATCCAACAAGA	0.612													G	13006897	A	G	13006897	2	3	514	1	0	0	0	0	0	0	0	1	6341	204	8	3		3	GCDH	19	13006897	Silent	SNP	A	TCGA-HT-7470-01A-12D-2086-08	431399	13006897	46122086	51	46424											
ZNF99	7652	broad.mit.edu	37	chr19	22939400	22939400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgtgaggattgcttaaaaGctttgccacattcttcacat	10	14	9	8	0	2	1	1	1	1	0	2	2	2	2	1	2	3	2	1	2	2	5			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:22939400G>C	ENST00000397104.3	-	7	2770	c.2771C>G	c.(2770-2772)gCt>gGt	p.A924G						zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TTGCTTAAAAGCTTTGCCACA	0.368													C	22939400	G	C	22939400	3	2	514	1	0	0	0	0	1	0	0	0	18303	971	34	4	345	4	ZNF99	19	22939400	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08	9932503	22939400	36189583	52	46425											
FCGBP	8857	broad.mit.edu	37	chr19	40357728	40357728	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaacaggaacagcgctcGctgcagtctgaggtcagcag	11	5	15	10	2	2	1	1	1	1	0	3	4	2	3	0	3	5	4	0	3	2	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:40357728G>A	ENST00000221347.6	-	34	15592	c.15585C>T	c.(15583-15585)agC>agT	p.S5195S		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5195	Cys-rich.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			AACAGCGCTCGCTGCAGTCTG	0.587													A	40357728	G	A	40357728	2	1	514	1	0	0	0	0	0	0	0	1	5827	1078	38	1		1	FCGBP	19	40357728	Silent	SNP	G	TCGA-HT-7470-01A-12D-2086-08	17418328	40357728	18771255	53	46426											
PAFAH1B3	5050	broad.mit.edu	37	chr19	42804340	42804340	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccttgggccggatgtgttCcagctccccattctccagcc	5	10	9	17	1	1	0	0	0	1	0	4	1	3	1	7	2	2	2	7	2	0	3			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:42804340C>G	ENST00000538771.1	-	4	624	c.268G>C	c.(268-270)Gaa>Caa	p.E90Q	PAFAH1B3_ENST00000262890.3_Missense_Mutation_p.E90Q	NM_001145939.1|NM_001145940.1	NP_001139411.1|NP_001139412.1	Q15102	PA1B3_HUMAN	platelet-activating factor acetylhydrolase 1b, catalytic subunit 3 (29kDa)	90					lipid catabolic process|nervous system development	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|protein binding			breast(1)|large_intestine(2)|ovary(1)	4		Prostate(69;0.0704)				CGGATGTGTTCCAGCTCCCCA	0.562													G	42804340	C	G	42804340	3	3	514	1	0	0	0	0	1	0	0	0	11462	864	30	4	439	4	PAFAH1B3	19	42804340	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	2446612	42804340	16324643	54	46427											
PPP1R12C	54776	broad.mit.edu	37	chr19	55605714	55605714	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accccagcccaccccacaccTgtgtggacctccgagactgg	8	5	9	19	1	0	1	0	0	0	1	1	3	1	2	8	2	1	0	8	2	0	0			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr19:55605714T>G	ENST00000263433.3	-	13	1697	c.1682A>C	c.(1681-1683)cAg>cCg	p.Q561P	PPP1R12C_ENST00000376393.2_Splice_Site_p.Q561P|PPP1R12C_ENST00000435544.2_Splice_Site_p.Q487P	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1	Q9BZL4	PP12C_HUMAN	protein phosphatase 1, regulatory subunit 12C	561						cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		ACCCCACACCTGTGTGGACCT	0.657													G	55605714	T	G	55605714	5	3	514	1	0	0	0	0	0	0	1	0	12438	1594	55	5	706	5	PPP1R12C	19	55605714	Splice_Site	SNP	T	TCGA-HT-7470-01A-12D-2086-08	12801374	55605714	3523269	55	46428											
TMC2	117532	broad.mit.edu	37	chr20	2592978	2592978	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgctgggagacagctGtgggcattgtgagtagttac	7	13	15	6	0	1	2	0	1	1	1	1	3	1	2	0	2	3	6	0	2	2	5	rs138720906		TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:2592978G>C	ENST00000358864.1	+	13	1750	c.1735G>C	c.(1735-1737)Gtg>Ctg	p.V579L	TMC2_ENST00000496948.1_3'UTR	NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	579						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGAGACAGCTGTGGGCATTGT	0.488													C	2592978	G	C	2592978	3	2	514	1	0	0	0	0	1	0	0	0	16085	1377	48	4	1785	4	TMC2	20	2592978	Missense_Mutation	SNP	G	TCGA-HT-7470-01A-12D-2086-08		2592978	60432542	56	46429											
LAMA5	3911	broad.mit.edu	37	chr20	60886842	60886843	+	Splice_Site	INS	-	-	G																															tcgacatacagccagactctINSggggggcgggaggccggagg																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr20:60886842_60886843insG	ENST00000252999.3	-	71	9702		c.e71-2			NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5						angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGCCAGACTCTGGGGGGCGGGA	0.698													G	60886843	-	G	60886842	8	5	514	1	0	1	1	0	0	0	1	0	8668	1594	55	0	1493	0	LAMA5	20	60886842	Splice_Site	INS	-	TCGA-HT-7470-01A-12D-2086-08	58293864	60886842	2138678	57	46430											
PARVB	29780	broad.mit.edu	37	chr22	44532367	44532367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctgctgcattccagcCacatctcggaggagctgacc	9	7	11	14	1	1	1	0	1	1	0	3	3	2	3	4	3	4	3	4	3	1	1			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chr22:44532367C>G	ENST00000338758.7	+	7	724	c.661C>G	c.(661-663)Cac>Gac	p.H221D	PARVB_ENST00000404989.1_Missense_Mutation_p.H184D|PARVB_ENST00000406477.3_Missense_Mutation_p.H254D	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GCATTCCAGCCACATCTCGGA	0.557													G	44532367	C	G	44532367	3	3	514	1	0	0	0	0	1	0	0	0	11545	594	21	4	906	4	PARVB	22	44532367	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08		44532367	6772199	58	46431											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	514	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7470-01A-12D-2086-08		37028425	118242135	59	46432											
AKAP4	8852	broad.mit.edu	37	chrX	49958837	49958837	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgctgtcatttctagaCgtaggttttgaggtctgttc	6	17	11	7	1	3	2	1	1	2	1	4	2	3	2	0	2	2	5	0	2	3	7			TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:49958837C>T	ENST00000376056.2	-	5	650	c.500G>A	c.(499-501)cGt>cAt	p.R167H	AKAP4_ENST00000376064.3_Missense_Mutation_p.R167H|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.R167H|AKAP4_ENST00000358526.2_Missense_Mutation_p.R176H			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	176					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CATTTCTAGACGTAGGTTTTG	0.443													T	49958837	C	T	49958837	3	4	514	1	0	0	0	0	1	0	0	0	453	536	19	1	2045	1	AKAP4	23	49958837	Missense_Mutation	SNP	C	TCGA-HT-7470-01A-12D-2086-08	12930412	49958837	105311723	60	46433											
ATRX	546	broad.mit.edu	37	chrX	76874329	76874330	+	Frame_Shift_Ins	INS	-	-	T																															agcacgttttttcatcactcINStgacatctaccatggtagaa																										TCGA-HT-7470-01A-12D-2086-08	TCGA-HT-7470-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	96f42efa-3605-4aef-8b3a-425bdfe1b51a	0d30db78-7ca2-423e-b60a-099aa73b2411	g.chrX:76874329_76874330insT	ENST00000373344.5	-	21	5606_5607	c.5392_5393insA	c.(5392-5394)agafs	p.R1798fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1760fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1798					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)	TTTCATCACTCTGACATCTACC	0.322			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76874330	-	T	76874329	7	5	514	1	0	1	1	0	0	0	0	0	1213	913	32	0	2145	0	ATRX	23	76874329	Frame_Shift_Ins	INS	-	TCGA-HT-7470-01A-12D-2086-08	26915492	76874329	78396231	61	46434											
FUBP1	8880	broad.mit.edu	37	chr1	78430773	78430773	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgtttaatagtttCtcccccttttccaatgacta	9	16	5	11	0	1	2	0	2	1	0	3	2	2	2	3	0	1	3	3	0	5	7			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:78430773C>A	ENST00000370767.1	-	8	703	c.616G>T	c.(616-618)Gaa>Taa	p.E206*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E206*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E227*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	206	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTAATAGTTTCTCCCCCTTTT	0.393			"F, N"		oligodendroglioma								A	78430773	C	A	78430773	4	1	515	1	0	0	0	0	0	1	0	0	6144	922	32	4	1370	4	FUBP1	1	78430773	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78430773	170819848	1	46435											
KIAA1324	57535	broad.mit.edu	37	chr1	109707134	109707134	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttccagccttctcctgcaaCgccggggagtttctggatat	6	13	10	12	2	2	0	0	0	2	0	4	2	3	2	4	3	3	2	4	3	2	4	rs144842352		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:109707134C>T	ENST00000369939.3	+	3	471	c.288C>T	c.(286-288)aaC>aaT	p.N96N	KIAA1324_ENST00000529753.1_Silent_p.N96N	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	96					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		TCTCCTGCAACGCCGGGGAGT	0.592													T	109707134	C	T	109707134	2	4	515	1	0	0	0	0	0	0	0	1	8281	535	19	1		1	KIAA1324	1	109707134	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	31276361	109707134	139543487	2	46436											
ADCY10	55811	broad.mit.edu	37	chr1	167870912	167870912	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcttacctatcttgactcGgatgtctaggccttcttccc	6	15	7	13	1	3	1	0	1	3	0	5	2	4	2	3	2	2	1	3	2	3	6			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:167870912G>A	ENST00000367848.1	-	5	645	c.148C>T	c.(148-150)Cga>Tga	p.R50*	ADCY10_ENST00000367851.4_Nonsense_Mutation_p.R142*|ADCY10_ENST00000545172.1_Intron			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	142	Guanylate cyclase 1.				intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						ATCTTGACTCGGATGTCTAGG	0.463													A	167870912	G	A	167870912	4	1	515	1	0	0	0	0	0	1	0	0	293	1124	39	1	4524	1	ADCY10	1	167870912	Nonsense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	58163778	167870912	81379709	3	46437											
CACNA1E	777	broad.mit.edu	37	chr1	181765891	181765891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctctcctgatgtctcccGctgcaattcagaagagcgag	8	11	9	13	2	4	3	1	1	3	2	7	4	4	3	2	0	2	2	2	0	2	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:181765891G>A	ENST00000526775.1	+	45	6275	c.6110G>A	c.(6109-6111)cGc>cAc	p.R2037H	CACNA1E_ENST00000357570.5_Missense_Mutation_p.R2050H|CACNA1E_ENST00000367573.2_Missense_Mutation_p.R2099H|CACNA1E_ENST00000358338.5_Missense_Mutation_p.R1988H|CACNA1E_ENST00000367567.4_Missense_Mutation_p.R1663H|CACNA1E_ENST00000367570.1_Missense_Mutation_p.R2056H|CACNA1E_ENST00000360108.3_Missense_Mutation_p.R2080H	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2099					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						GATGTCTCCCGCTGCAATTCA	0.602													A	181765891	G	A	181765891	3	1	515	1	0	0	0	0	1	0	0	0	2568	1087	38	1	6349	1	CACNA1E	1	181765891	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	13894979	181765891	67484730	4	46438											
FMN2	56776	broad.mit.edu	37	chr1	240371421	240371421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctccgccccctctaccCggagtgggcatacctcctcc	4	7	7	23	2	1	0	0	0	1	0	4	1	4	1	9	2	2	1	9	2	2	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr1:240371421C>T	ENST00000319653.9	+	5	3539	c.3309C>T	c.(3307-3309)ccC>ccT	p.P1103P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1103	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding	p.P1246P(2)		NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CCCCTCTACCCGGAGTGGGCA	0.736													T	240371421	C	T	240371421	2	4	515	1	0	0	0	0	0	0	0	1	5999	639	23	1		1	FMN2	1	240371421	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	58605530	240371421	8879200	5	46439											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	515	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		209113112	34086261	6	46440											
STAB1	23166	broad.mit.edu	37	chr3	52552602	52552602	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccatcttcgtgccgcaCgcagatctaatgagcaacct	10	10	7	14	3	3	2	1	1	2	1	4	2	3	2	3	0	3	3	3	0	2	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr3:52552602C>T	ENST00000321725.6	+	47	4936	c.4860C>T	c.(4858-4860)caC>caT	p.H1620H		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	1620	FAS1 5.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TCGTGCCGCACGCAGATCTAA	0.627													T	52552602	C	T	52552602	2	4	515	1	0	0	0	0	0	0	0	1	15333	535	19	1		1	STAB1	3	52552602	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		52552602	145469828	7	46441											
SLC6A3	6531	broad.mit.edu	37	chr5	1409836	1409836	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccggcgatggtacgtacGttggtgacgcagaacaggga	11	6	16	8	5	0	2	0	1	0	1	0	4	0	3	1	4	4	4	1	4	4	3	rs2270912	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr5:1409836G>A	ENST00000270349.9	-	10	1525	c.1398C>T	c.(1396-1398)aaC>aaT	p.N466N	SLC6A3_ENST00000453492.2_Splice_Site_p.N466N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	466					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGTACGTACGTTGGTGACGC	0.617													A	1409836	G	A	1409836	5	1	515	1	0	0	0	0	0	0	1	0	14779	1159	40	1	488	1	SLC6A3	5	1409836	Splice_Site	SNP	G	TCGA-HT-7471-01A-11D-2253-08		1409836	179505424	8	46442											
GCM1	8521	broad.mit.edu	37	chr6	52993190	52993190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtatgcaggagactggacGtagctgttaaaatccacatg	12	10	12	7	1	0	1	0	0	0	1	1	3	1	2	1	3	2	5	1	3	4	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr6:52993190G>A	ENST00000259803.7	-	6	1336	c.1125C>T	c.(1123-1125)taC>taT	p.Y375Y		NM_003643.3	NP_003634.2	Q9NP62	GCM1_HUMAN	glial cells missing homolog 1 (Drosophila)	375						transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|skin(1)	24	Lung NSC(77;0.0755)					GAGACTGGACGTAGCTGTTAA	0.483													A	52993190	G	A	52993190	2	1	515	1	0	0	0	0	0	0	0	1	6351	1140	40	1		1	GCM1	6	52993190	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08		52993190	118121877	9	46443											
TTYH3	80727	broad.mit.edu	37	chr7	2698612	2698612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagaacccccgctgtgagaAcaccccactcattgggcgcg	9	5	10	17	3	1	2	1	1	0	2	1	3	1	2	5	1	2	1	5	1	2	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:2698612A>G	ENST00000258796.7	+	13	1668	c.1463A>G	c.(1462-1464)aAc>aGc	p.N488S	TTYH3_ENST00000403167.1_Missense_Mutation_p.N317S|TTYH3_ENST00000407643.1_Missense_Mutation_p.N456S	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	488						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGCTGTGAGAACACCCCACTC	0.642													G	2698612	A	G	2698612	3	3	515	1	0	0	0	0	1	0	0	0	16843	43	2	3	1513	3	TTYH3	7	2698612	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		2698612	156440051	10	46444											
MET	4233	broad.mit.edu	37	chr7	116436092	116436092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgaacgtaaaatgtgtcGctccgtatccttctctgttg	8	15	9	9	3	1	1	0	1	1	0	5	1	3	1	2	0	1	4	2	0	4	4	rs45578433	by1000genomes	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr7:116436092G>A	ENST00000397752.3	+	21	4287	c.4087G>A	c.(4087-4089)Gct>Act	p.A1363T	MET_ENST00000539704.1_Missense_Mutation_p.A233T|MET_ENST00000318493.6_Missense_Mutation_p.A1381T	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1363	Interaction with RANBP9.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			AAAATGTGTCGCTCCGTATCC	0.463			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116436092	G	A	116436092	3	1	515	1	0	0	0	0	1	0	0	0	9560	1087	38	1	4219	1	MET	7	116436092	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	113737480	116436092	42702571	11	46445											
MYO3A	53904	broad.mit.edu	37	chr10	26500833	26500833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccagcagccaacccctacGacttcaggaggctcctgcgc	9	5	10	17	2	1	0	1	0	0	0	2	2	2	1	5	2	6	2	5	2	2	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:26500833G>A	ENST00000265944.5	+	35	4958	c.4792G>A	c.(4792-4794)Gac>Aac	p.D1598N	MYO3A_ENST00000543632.1_Missense_Mutation_p.R613Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1598					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAACCCCTACGACTTCAGGAG	0.652													A	26500833	G	A	26500833	3	1	515	1	0	0	0	0	1	0	0	0	10152	1058	37	1	4922	1	MYO3A	10	26500833	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08		26500833	109033914	12	46446											
BMPR1A	657	broad.mit.edu	37	chr10	88681327	88681327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccagggtgggcaccaaacGctacatggctcccgaagtgc	10	6	12	13	2	0	0	0	0	0	0	1	1	1	0	3	3	4	3	3	3	4	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:88681327G>A	ENST00000372037.3	+	11	1754	c.1217G>A	c.(1216-1218)cGc>cAc	p.R406H		NM_004329.2	NP_004320.2	P36894	BMR1A_HUMAN	bone morphogenetic protein receptor, type IA		Protein kinase.				BMP signaling pathway|immune response|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|transforming growth factor beta receptor signaling pathway	integral to membrane|plasma membrane	ATP binding|metal ion binding|protein homodimerization activity|SMAD binding|transforming growth factor beta receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|skin(1)|stomach(1)	24						GGCACCAAACGCTACATGGCT	0.473			"Mis, N, F"			gastrointestinal polyps			Juvenile Polyposis;Hereditary Mixed Polyposis syndrome type 2				A	88681327	G	A	88681327	3	1	515	1	0	0	0	0	1	0	0	0	1475	1087	38	1	1251	1	BMPR1A	10	88681327	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	62180494	88681327	46853420	13	46447											
CHST15	51363	broad.mit.edu	37	chr10	125780796	125780796	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggcgttgttgagggtgttGttgtagacgcaggcgcgcag	6	11	18	6	4	0	2	0	1	0	1	0	2	0	2	0	3	0	7	0	3	1	5			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr10:125780796G>C	ENST00000346248.5	-	6	1965	c.1323C>G	c.(1321-1323)aaC>aaG	p.N441K	CHST15_ENST00000435907.1_Missense_Mutation_p.N441K|CHST15_ENST00000421115.1_Missense_Mutation_p.N441K	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	441					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TGAGGGTGTTGTTGTAGACGC	0.542													C	125780796	G	C	125780796	3	2	515	1	0	0	0	0	1	0	0	0	3433	1368	48	4	374	4	CHST15	10	125780796	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	37099469	125780796	9753951	14	46448											
RBM4	5936	broad.mit.edu	37	chr11	66411034	66411035	+	Frame_Shift_Ins	INS	-	-	CGATAGAT																															gcactggtccaaagagtgtcINScgatagatcgttcaggccgc																										TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:66411034_66411035insCGATAGAT	ENST00000409406.1	+	2	1303_1304	c.526_527insCGATAGAT	c.(526-528)ccgfs	p.-178fs	RBM4_ENST00000503028.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000506523.2_Intron|RBM14-RBM4_ENST00000412278.2_Frame_Shift_Ins_p.-153fs|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000530235.1_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Frame_Shift_Ins_p.-153fs|RBM4_ENST00000408993.2_Frame_Shift_Ins_p.-178fs|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Frame_Shift_Ins_p.-178fs					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		CAAAGAGTGTCCGATAGATCGT	0.579													CGATAGAT	66411035	-	CGATAGAT	66411034	7	5	515	1	0	1	1	0	0	0	0	0	13222	855	30	0	532	0	RBM4	11	66411034	Frame_Shift_Ins	INS	-	TCGA-HT-7471-01A-11D-2253-08		66411034	68595482	15	46449											
ETS1	2113	broad.mit.edu	37	chr11	128426243	128426243	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgccatctcatcccaaaAggggtagcaaggtctttgct	10	11	10	10	0	2	0	1	0	2	0	4	0	3	0	2	3	3	4	2	3	4	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr11:128426243A>G	ENST00000392668.4	-	3	241	c.157T>C	c.(157-159)Ttt>Ctt	p.F53L	ETS1_ENST00000525404.1_5'UTR	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1		PNT.				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		TCATCCCAAAAGGGGTAGCAA	0.448													G	128426243	A	G	128426243	3	3	515	1	0	0	0	0	1	0	0	0	5316	72	3	3	1418	3	ETS1	11	128426243	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	62015209	128426243	6580273	16	46450											
PZP	5858	broad.mit.edu	37	chr12	9309931	9309931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgactccaggcagaacagGgcattgcgaacaatagggtt	12	7	13	9	1	0	2	0	1	0	1	1	3	1	2	1	3	3	4	1	3	4	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:9309931G>A	ENST00000261336.2	-	28	3418	c.3390C>T	c.(3388-3390)gcC>gcT	p.A1130A	PZP_ENST00000381997.2_Silent_p.A916A	NM_002864.2	NP_002855.2			pregnancy-zone protein											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(21)|lung(46)|ovary(3)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)	102						GGCAGAACAGGGCATTGCGAA	0.507													A	9309931	G	A	9309931	2	1	515	1	0	0	0	0	0	0	0	1	12957	1219	43	2		2	PZP	12	9309931	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08		9309931	124541964	17	46451											
CCNT1	904	broad.mit.edu	37	chr12	49087565	49087565	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcgcatttttatctcctCtggttttgaagacgcagctt	7	17	8	9	2	2	2	0	1	2	1	3	2	2	2	1	1	2	4	1	1	3	7			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr12:49087565C>A	ENST00000261900.3	-	9	1654	c.1432G>T	c.(1432-1434)Gag>Tag	p.E478*		NM_001240.3	NP_001231.2	O60563	CCNT1_HUMAN	cyclin T1	478					cell cycle|cell division|interspecies interaction between organisms|positive regulation of viral transcription|protein phosphorylation|regulation of cyclin-dependent protein kinase activity|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	DNA binding|protein kinase binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|skin(2)	27						TTTATCTCCTCTGGTTTTGAA	0.453													A	49087565	C	A	49087565	4	1	515	1	0	0	0	0	0	1	0	0	2964	922	32	4	752	4	CCNT1	12	49087565	Nonsense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08	39777634	49087565	84764330	18	46452											
CHRNA3	1136	broad.mit.edu	37	chr15	78894483	78894483	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacagttttggtaatcaaaCgggaagtaggtcacgtcgat	12	11	12	6	3	2	0	2	0	0	0	3	2	2	1	0	3	2	4	0	3	5	5			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr15:78894483C>T	ENST00000326828.5	-	5	885	c.501G>A	c.(499-501)ccG>ccA	p.P167P	CHRNA3_ENST00000348639.3_Silent_p.P167P	NM_000743.4	NP_000734.2	P32297	ACHA3_HUMAN	cholinergic receptor, nicotinic, alpha 3 (neuronal)	167					activation of transmembrane receptor protein tyrosine kinase activity|behavioral response to nicotine|locomotory behavior|regulation of acetylcholine secretion|regulation of dendrite morphogenesis|regulation of excitatory postsynaptic membrane potential|regulation of smooth muscle contraction|synaptic transmission involved in micturition|synaptic transmission, cholinergic	cell junction|dendrite|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic density|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GGTAATCAAACGGGAAGTAGG	0.483													T	78894483	C	T	78894483	2	4	515	1	0	0	0	0	0	0	0	1	3414	523	19	1		1	CHRNA3	15	78894483	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08		78894483	23636909	19	46453											
MYH4	4622	broad.mit.edu	37	chr17	10355562	10355562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgatctcctccagctccCgggagaggtcagagcgctgc	7	7	12	15	2	2	3	1	1	1	2	5	4	4	3	3	2	3	2	3	2	0	0			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:10355562C>T	ENST00000255381.2	-	27	3544	c.3434G>A	c.(3433-3435)cGg>cAg	p.R1145Q	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1145					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1145L(1)		NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CTCCAGCTCCCGGGAGAGGTC	0.592													T	10355562	C	T	10355562	3	4	515	1	0	0	0	0	1	0	0	0	10113	652	23	1	2441	1	MYH4	17	10355562	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		10355562	70839648	20	46454											
TMC8	147138	broad.mit.edu	37	chr17	76130033	76130033	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggacttctgcatccgggtGcaggaagcagccaccatcaa	10	7	12	12	1	2	0	1	0	1	0	3	2	3	2	3	3	4	3	3	3	2	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr17:76130033G>A	ENST00000318430.5	+	7	1142	c.768G>A	c.(766-768)gtG>gtA	p.V256V	TMC8_ENST00000589691.1_Silent_p.V33V	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	256						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			GCATCCGGGTGCAGGAAGCAG	0.577													A	76130033	G	A	76130033	2	1	515	1	0	0	0	0	0	0	0	1	16091	1306	46	2		2	TMC8	17	76130033	Silent	SNP	G	TCGA-HT-7471-01A-11D-2253-08	65774471	76130033	5065177	21	46455											
GATA6	2627	broad.mit.edu	37	chr18	19751533	19751533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccttcgcacccgagcAgccggaggagatgtaccaga	10	4	13	14	3	0	2	0	0	0	2	1	6	0	3	5	2	4	3	5	2	1	2			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr18:19751533A>G	ENST00000269216.3	+	2	705	c.428A>G	c.(427-429)cAg>cGg	p.Q143R	GATA6_ENST00000581694.1_Missense_Mutation_p.Q143R	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	143					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			GCACCCGAGCAGCCGGAGGAG	0.716													G	19751533	A	G	19751533	3	3	515	1	0	0	0	0	1	0	0	0	6312	188	7	3	430	3	GATA6	18	19751533	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		19751533	58325715	22	46456											
MUC16	94025	broad.mit.edu	37	chr19	9090831	9090831	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttagtgtcatggaaaaAgggatagctgagttgggcat	11	12	14	4	0	1	1	1	1	0	0	1	3	1	3	0	3	2	4	0	3	4	4			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	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						TCATGGAAAAAGGGATAGCTG	0.522													G	9090831	A	G	9090831	2	3	515	1	0	0	0	0	0	0	0	1	10049	59	3	3		3	MUC16	19	9090831	Silent	SNP	A	TCGA-HT-7471-01A-11D-2253-08		9090831	50038152	23	46457											
ATP13A1	57130	broad.mit.edu	37	chr19	19758334	19758334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgcagcacctggctcaggcGgtcctgcagggtagacagca	8	6	14	13	2	1	1	1	0	0	1	3	1	2	1	2	4	3	6	2	4	1	1			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:19758334G>A	ENST00000357324.6	-	21	2823	c.2797C>T	c.(2797-2799)Cgc>Tgc	p.R933C	ATP13A1_ENST00000291503.5_Missense_Mutation_p.R815C	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	933					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						TGGCTCAGGCGGTCCTGCAGG	0.637													A	19758334	G	A	19758334	3	1	515	1	0	0	0	0	1	0	0	0	1128	1116	39	1	841	1	ATP13A1	19	19758334	Missense_Mutation	SNP	G	TCGA-HT-7471-01A-11D-2253-08	10667503	19758334	39370649	24	46458											
CIC	23152	broad.mit.edu	37	chr19	42794411	42794411	+	Frame_Shift_Del	DEL	T	T	-																															ggtcggaaggtgttttcaccTgtgatccgttcctcctttac																										TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:42794411delT	ENST00000572681.2	+	11	4286	c.4218delT	c.(4216-4218)cctfs	p.P1406fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.P497fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.P497fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	497					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGTTTTCACCTGTGATCCGTT	0.617			"Mis, F, S"		oligodendroglioma								-	42794411	T	-	42794411	7	5	515	1	0	1	0	1	0	0	0	0	3454	1567	55	0	1529	0	CIC	19	42794411	Frame_Shift_Del	DEL	T	TCGA-HT-7471-01A-11D-2253-08	23036077	42794411	16334572	25	46459											
ZNF761	388561	broad.mit.edu	37	chr19	53959188	53959188	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgtgacaaagctttccGtttcaaatcaaaccttgaaa	16	11	6	8	1	2	3	2	2	0	1	3	3	3	3	2	0	2	2	2	0	5	3	rs144532705		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr19:53959188G>A	ENST00000454407.1	+	0	1880							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		AAAGCTTTCCGTTTCAAATCA	0.423													A	53959188	G	A	53959188	1	1	515	0	1	0	0	0	0	0	0	0	18236	1145	40	1		1	ZNF761	19	53959188	RNA	SNP	G	TCGA-HT-7471-01A-11D-2253-08	11164777	53959188	5169795	26	46460											
ZNF512B	57473	broad.mit.edu	37	chr20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcggcttttggccgccccTttttcttcccttctgtcttg	0	19	7	15	2	4	0	0	0	4	0	6	0	5	0	4	2	0	1	4	2	0	7			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632													C	62598777	T	C	62598777	3	2	515	1	0	0	0	0	1	0	0	0	18058	1609	56	3	2517	3	ZNF512B	20	62598777	Missense_Mutation	SNP	T	TCGA-HT-7471-01A-11D-2253-08		62598777	426743	27	46461											
SON	6651	broad.mit.edu	37	chr21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgttagcaactagctcaAtggattcccagatgttagca	13	11	9	8	0	1	2	1	0	0	2	2	3	2	3	1	1	4	5	1	1	5	4	rs142324795		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000381679.4_Missense_Mutation_p.M861V|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													G	34924118	A	G	34924118	3	3	515	1	0	0	0	0	1	0	0	0	15020	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08		34924118	13205777	28	46462											
LRRC3	81543	broad.mit.edu	37	chr21	45876870	45876870	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcgggcctggccgggggcCtgcggctgctggacctgtct	1	8	18	14	4	1	0	0	0	1	0	2	1	1	1	4	6	2	2	4	6	0	0	rs138458454		TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chr21:45876870C>T	ENST00000291592.4	+	2	660	c.343C>T	c.(343-345)Ctg>Ttg	p.L115L		NM_030891.3	NP_112153.1	Q9BY71	LRRC3_HUMAN	leucine rich repeat containing 3	115						integral to membrane	protein binding			endometrium(2)|kidney(1)|lung(1)|urinary_tract(1)	5		Breast(209;0.00908)		COAD - Colon adenocarcinoma(84;0.148)|Lung(125;0.195)		GGCCGGGGGCCTGCGGCTGCT	0.672													T	45876870	C	T	45876870	2	4	515	1	0	0	0	0	0	0	0	1	9054	680	24	2		2	LRRC3	21	45876870	Silent	SNP	C	TCGA-HT-7471-01A-11D-2253-08	10952752	45876870	2253025	29	46463											
MXRA5	25878	broad.mit.edu	37	chrX	3238337	3238337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	taagttagttgagggtgatcCcgtggtctgcggagtgtgca	7	12	16	6	2	1	2	0	2	1	0	2	3	2	3	1	3	2	3	1	3	2	3			TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:3238337C>T	ENST00000217939.6	-	5	5543	c.5389G>A	c.(5389-5391)Gga>Aga	p.G1797R		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1797						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GAGGGTGATCCCGTGGTCTGC	0.493													T	3238337	C	T	3238337	3	4	515	1	0	0	0	0	1	0	0	0	10079	632	22	2	3109	2	MXRA5	23	3238337	Missense_Mutation	SNP	C	TCGA-HT-7471-01A-11D-2253-08		3238337	152032223	30	46464											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	515	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7471-01A-11D-2253-08	33790088	37028425	118242135	31	46465											
CD99L2	83692	broad.mit.edu	37	chrX	149984524	149984526	+	In_Frame_Del	DEL	GTG	GTG	-																															tggttcctggcctattggttGtggtggtggtggtgtggtcc																										TCGA-HT-7471-01A-11D-2253-08	TCGA-HT-7471-10B-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06425414-a57c-40df-905e-290fa2086153	d0b349eb-d50b-43ec-903d-e8494d8705ca	g.chrX:149984524_149984526delGTG	ENST00000370377.3	-	3	273_275	c.156_158delCAC	c.(154-159)accaca>aca	p.52_53TT>T	CD99L2_ENST00000437787.2_In_Frame_Del_p.52_53TT>T|CD99L2_ENST00000466436.1_Intron|CD99L2_ENST00000355149.3_Intron|CD99L2_ENST00000346693.4_5'UTR	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	52	Poly-Thr.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CCTATTGGTTGTGGTGGTGGTGG	0.552													-	149984526	GTG	-	149984524	7	5	515	1	0	1	0	1	0	0	0	0	3081	1377	48	0	666	0	CD99L2	23	149984524	In_Frame_Del	DEL	GTG	TCGA-HT-7471-01A-11D-2253-08	112956099	149984524	5286036	32	46466											
ADAMTSL4	54507	broad.mit.edu	37	chr1	150531779	150531779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctagtgctcctccgaatgtgGctctggcacacagcgtagag	8	9	12	12	2	1	1	0	0	1	1	3	2	3	1	2	2	2	4	2	2	3	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:150531779G>A	ENST00000271643.4	+	17	3016	c.2780G>A	c.(2779-2781)gGc>gAc	p.G927D	ADAMTSL4_ENST00000369039.5_Missense_Mutation_p.G950D|ADAMTSL4_ENST00000369038.2_Missense_Mutation_p.G927D	NM_019032.4	NP_061905.2	Q6UY14	ATL4_HUMAN	ADAMTS-like 4	927	TSP type-1 5.				apoptosis|positive regulation of apoptosis		metalloendopeptidase activity|protease binding			breast(1)|cervix(1)|endometrium(6)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(3)	32	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0241)|Epithelial(6;3.18e-23)|all cancers(9;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(6;1.13e-14)|BRCA - Breast invasive adenocarcinoma(12;0.000503)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			TCCGAATGTGGCTCTGGCACA	0.592											OREG0013787	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	150531779	G	A	150531779	3	1	516	1	0	0	0	0	1	0	0	0	277	1203	42	2	2913	2	ADAMTSL4	1	150531779	Missense_Mutation	SNP	G	TCGA-HT-7472-01A-11D-2024-08		150531779	98718842	1	46467											
RPTN	126638	broad.mit.edu	37	chr1	152128277	152128280	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															catagtgggaactctggcctTgtctgtctgtctgaccgtag																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:152128277_152128280delTGTC	ENST00000316073.3	-	3	1359_1362	c.1295_1298delGACA	c.(1294-1299)agacaafs	p.RQ432fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	432	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding	p.R432K(1)		breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						ACTCTGGCCTTGTCTGTCTGTCTG	0.525													-	152128280	TGTC	-	152128277	7	5	516	1	0	1	0	1	0	0	0	0	13755	1812	63	0	1060	0	RPTN	1	152128277	Frame_Shift_Del	DEL	TGTC	TCGA-HT-7472-01A-11D-2024-08	1596498	152128277	97122344	2	46468											
RPS6KC1	26750	broad.mit.edu	37	chr1	213414640	213414640	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggatagacagtaaggaTagcgcaagtgaactcctggg	13	9	13	6	1	0	2	0	1	0	1	1	4	1	4	1	3	2	2	1	3	6	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr1:213414640T>C	ENST00000366960.3	+	11	1971	c.1821T>C	c.(1819-1821)gaT>gaC	p.D607D	RPS6KC1_ENST00000543470.1_Silent_p.D395D|RPS6KC1_ENST00000366959.3_Silent_p.D595D|RPS6KC1_ENST00000543354.1_Silent_p.D310D|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	607					cell communication|signal transduction	early endosome|membrane	ATP binding|phosphatidylinositol binding|protein binding|protein serine/threonine kinase activity			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		ACAGTAAGGATAGCGCAAGTG	0.408													C	213414640	T	C	213414640	2	2	516	1	0	0	0	0	0	0	0	1	13749	1403	49	3		3	RPS6KC1	1	213414640	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08	61286363	213414640	35835981	3	46469											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	516	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		209113112	34086261	4	46470											
WNT7A	7476	broad.mit.edu	37	chr3	13860812	13860812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtacttgtccttgagcaCgtagcccagctcccgaaact	8	11	9	13	2	0	1	0	1	0	0	2	2	2	1	3	0	5	5	3	0	3	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:13860812C>T	ENST00000285018.4	-	4	983	c.679G>A	c.(679-681)Gtg>Atg	p.V227M		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	227					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TCCTTGAGCACGTAGCCCAGC	0.587													T	13860812	C	T	13860812	3	4	516	1	0	0	0	0	1	0	0	0	17496	536	19	1	374	1	WNT7A	3	13860812	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		13860812	184161618	5	46471											
OSBPL10	114884	broad.mit.edu	37	chr3	31725264	31725264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgatgggacacttgctcagCcacaaaccttagtttgtagc	10	11	10	10	0	1	1	1	1	0	0	1	2	1	2	2	1	4	3	2	1	3	4			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:31725264C>T	ENST00000396556.2	-	8	1710	c.1588G>A	c.(1588-1590)Gct>Act	p.A530T	OSBPL10_ENST00000438237.2_Missense_Mutation_p.A466T	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	530					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		ACTTGCTCAGCCACAAACCTT	0.527													T	31725264	C	T	31725264	3	4	516	1	0	0	0	0	1	0	0	0	11351	739	26	2	726	2	OSBPL10	3	31725264	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	17864452	31725264	166297166	6	46472											
MYH15	22989	broad.mit.edu	37	chr3	108216948	108216948	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatggtggcaaaatactggAtaatatgtttgctgttcaca	12	14	9	6	0	1	0	1	0	0	0	1	1	1	1	0	3	2	4	0	3	6	6			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr3:108216948A>G	ENST00000273353.3	-	7	685	c.629T>C	c.(628-630)aTc>aCc	p.I210T		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	210	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						AAAATACTGGATAATATGTTT	0.403													G	108216948	A	G	108216948	3	3	516	1	0	0	0	0	1	0	0	0	10110	333	12	3	5355	3	MYH15	3	108216948	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08	76491684	108216948	89805482	7	46473											
MED28	80306	broad.mit.edu	37	chr4	17616285	17616285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccattccaaacatggcggCtccactagggggtatgtttt	8	11	11	11	2	0	0	0	0	0	0	2	0	2	0	3	4	1	3	3	4	3	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr4:17616285C>T	ENST00000237380.7	+	1	32	c.8C>T	c.(7-9)gCt>gTt	p.A3V		NM_025205.3	NP_079481.2	Q9H204	MED28_HUMAN	mediator complex subunit 28						regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|membrane|nucleus	actin binding			lung(6)|skin(2)	8						AACATGGCGGCTCCACTAGGG	0.652													T	17616285	C	T	17616285	3	4	516	1	0	0	0	0	1	0	0	0	9521	797	28	2	10	2	MED28	4	17616285	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		17616285	173537991	8	46474											
F13A1	2162	broad.mit.edu	37	chr6	6145947	6145947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatcagcttccgatgccCagagacccagggccggcaca	9	5	12	15	2	1	1	1	0	0	1	2	3	2	1	4	3	2	3	4	3	1	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr6:6145947C>T	ENST00000264870.3	-	15	2369	c.2104G>A	c.(2104-2106)Ggg>Agg	p.G702R		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	702					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TTCCGATGCCCAGAGACCCAG	0.547													T	6145947	C	T	6145947	3	4	516	1	0	0	0	0	1	0	0	0	5382	594	21	2	98	2	F13A1	6	6145947	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		6145947	164969120	9	46475											
MKLN1	4289	broad.mit.edu	37	chr7	131113796	131113799	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															tttctgattttcatagagacTgtttatttgtttggtggctg																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr7:131113796_131113799delTGTT	ENST00000352689.6	+	9	892_895	c.852_855delTGTT	c.(850-855)actgttfs	p.TV284fs	MKLN1_ENST00000421797.2_Frame_Shift_Del_p.TV192fs	NM_013255.4	NP_037387.2	Q9UL63	MKLN1_HUMAN	muskelin 1, intracellular mediator containing kelch motifs	284					signal transduction	cytoplasm	protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	28	Melanoma(18;0.162)					TCATAGAGACTGTTTATTTGTTTG	0.402													-	131113799	TGTT	-	131113796	7	5	516	1	0	1	0	1	0	0	0	0	9678	1567	55	0	919	0	MKLN1	7	131113796	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7472-01A-11D-2024-08		131113796	28024867	10	46476											
PCM1	5108	broad.mit.edu	37	chr8	17867095	17867096	+	Frame_Shift_Del	DEL	TG	TG	-																															ctggcagaaaactgaaagacTgtggagaagatcttcttgta																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:17867095_17867096delTG	ENST00000325083.8	+	31	5441_5442	c.5002_5003delTG	c.(5002-5004)tgtfs	p.C1668fs	PCM1_ENST00000327578.8_Frame_Shift_Del_p.C367fs|PCM1_ENST00000519253.1_Frame_Shift_Del_p.C1660fs|PCM1_ENST00000524226.1_Frame_Shift_Del_p.C1614fs	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1668	Interaction with HAP1.				centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		ACTGAAAGACTGTGGAGAAGAT	0.287			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								-	17867096	TG	-	17867095	7	5	516	1	0	1	0	1	0	0	0	0	11660	1580	55	0	5116	0	PCM1	8	17867095	Frame_Shift_Del	DEL	TG	TCGA-HT-7472-01A-11D-2024-08		17867095	128496927	11	46477											
VDAC3	7419	broad.mit.edu	37	chr8	42257212	42257212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgataccatatttgtacCgaacacagggtaattattca	13	14	6	8	1	2	1	1	1	1	0	2	2	2	1	2	1	3	2	2	1	6	8			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:42257212C>T	ENST00000392935.3	+	6	460	c.317C>T	c.(316-318)cCg>cTg	p.P106L	VDAC3_ENST00000022615.4_Missense_Mutation_p.P105L|VDAC3_ENST00000521158.1_Missense_Mutation_p.P106L|VDAC3_ENST00000522572.1_Missense_Mutation_p.P106L	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	105					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	ATATTTGTACCGAACACAGGG	0.338													T	42257212	C	T	42257212	3	4	516	1	0	0	0	0	1	0	0	0	17250	652	23	1	331	1	VDAC3	8	42257212	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	24390117	42257212	104106810	12	46478											
CTHRC1	115908	broad.mit.edu	37	chr8	104384811	104384811	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtaggagcatcacagtcaAgctacgggagaaaacagttt	15	7	12	7	1	2	1	2	0	0	1	2	3	2	2	0	3	4	4	0	3	5	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr8:104384811A>G	ENST00000520337.1	+	1	151	c.32A>G	c.(31-33)aAg>aGg	p.K11R	CTHRC1_ENST00000415886.2_Intron|CTHRC1_ENST00000330295.5_Intron	NM_001256099.1	NP_001243028.1	Q96CG8	CTHR1_HUMAN	collagen triple helix repeat containing 1	0						collagen				endometrium(1)|large_intestine(5)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)			ATCACAGTCAAGCTACGGGAG	0.488													G	104384811	A	G	104384811	3	3	516	1	0	0	0	0	1	0	0	0	4043	87	3	3		3	CTHRC1	8	104384811	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08	62127599	104384811	41979211	13	46479											
GAPVD1	26130	broad.mit.edu	37	chr9	128124938	128124938	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatatcagtagcttttatgcTagctgtctgtctggagagga	9	15	11	6	0	3	1	1	0	2	1	3	3	3	2	0	2	3	4	0	2	5	6			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:128124938T>C	ENST00000470056.1	+	25	4375	c.4215T>C	c.(4213-4215)gcT>gcC	p.A1405A	GAPVD1_ENST00000297933.6_Silent_p.A1432A|GAPVD1_ENST00000394104.2_Silent_p.A1450A|GAPVD1_ENST00000495955.1_Silent_p.A1450A|GAPVD1_ENST00000312123.9_Silent_p.A1411A|GAPVD1_ENST00000394105.2_Silent_p.A1459A|GAPVD1_ENST00000394083.2_Silent_p.A1384A|GAPVD1_ENST00000265956.4_Silent_p.A1424A			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1450	VPS9.				endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						GCTTTTATGCTAGCTGTCTGT	0.418													C	128124938	T	C	128124938	2	2	516	1	0	0	0	0	0	0	0	1	6293	1509	53	3		3	GAPVD1	9	128124938	Silent	SNP	T	TCGA-HT-7472-01A-11D-2024-08		128124938	13088493	14	46480											
ANGPTL2	23452	broad.mit.edu	37	chr9	129854133	129854133	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccagtcctccatggtcacCaggagtttgtagttgccttg	7	12	11	11	0	1	0	1	0	0	0	3	2	3	1	5	2	1	3	5	2	1	4			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr9:129854133C>G	ENST00000373425.3	-	4	1715	c.1098G>C	c.(1096-1098)ctG>ctC	p.L366L	RALGPS1_ENST00000424082.2_Intron|ANGPTL2_ENST00000373417.1_Silent_p.L64L|RALGPS1_ENST00000373436.1_Intron|RALGPS1_ENST00000373434.1_Intron|RALGPS1_ENST00000394022.3_Intron|RALGPS1_ENST00000259351.5_Intron	NM_012098.2	NP_036230.1	Q9UKU9	ANGL2_HUMAN	angiopoietin-like 2	366	Fibrinogen C-terminal.				multicellular organismal development|signal transduction	extracellular space	receptor binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|urinary_tract(1)	18						CCATGGTCACCAGGAGTTTGT	0.552													G	129854133	C	G	129854133	2	3	516	1	0	0	0	0	0	0	0	1	614	581	21	4		4	ANGPTL2	9	129854133	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	1729195	129854133	11359298	15	46481											
OR52B6	340980	broad.mit.edu	37	chr11	5602531	5602531	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccatggcctttgaccgctAtgtggccatctgctcccccc	4	10	10	17	1	1	1	0	1	1	0	2	1	2	1	7	3	1	2	7	3	1	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:5602531A>G	ENST00000345043.2	+	1	425	c.425A>G	c.(424-426)tAt>tGt	p.Y142C	AC015691.13_ENST00000394793.2_RNA|HBG2_ENST00000380259.2_Intron	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	142					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTGACCGCTATGTGGCCATC	0.512													G	5602531	A	G	5602531	3	3	516	1	0	0	0	0	1	0	0	0	11189	449	16	3	427	3	OR52B6	11	5602531	Missense_Mutation	SNP	A	TCGA-HT-7472-01A-11D-2024-08		5602531	129403985	16	46482											
OR8I2	120586	broad.mit.edu	37	chr11	55861581	55861581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacctgataacacatcatcGctgacccaggcgcaggtggc	11	6	10	14	2	1	2	1	2	0	0	2	2	1	2	2	3	2	2	2	3	2	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr11:55861581G>A	ENST00000302124.2	+	1	829	c.798G>A	c.(796-798)tcG>tcA	p.S266S		NM_001003750.1	NP_001003750.1	Q8N0Y5	OR8I2_HUMAN	olfactory receptor, family 8, subfamily I, member 2	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(24)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	53	Esophageal squamous(21;0.00693)					ACACATCATCGCTGACCCAGG	0.468													A	55861581	G	A	55861581	2	1	516	1	0	0	0	0	0	0	0	1	11316	1074	38	1		1	OR8I2	11	55861581	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08	50259050	55861581	79144935	17	46483											
MYLK3	91807	broad.mit.edu	37	chr16	46766546	46766546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcatcagcatctcccCaggagtatccatctcttgta	8	12	7	14	0	4	0	2	0	2	0	7	1	5	1	4	1	1	3	4	1	2	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:46766546C>T	ENST00000394809.4	-	4	1151	c.1036G>A	c.(1036-1038)Ggg>Agg	p.G346R	MYLK3_ENST00000536476.1_Missense_Mutation_p.G5R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	346					cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				AGCATCTCCCCAGGAGTATCC	0.607													T	46766546	C	T	46766546	3	4	516	1	0	0	0	0	1	0	0	0	10134	594	21	2	1463	2	MYLK3	16	46766546	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46766546	43588207	18	46484											
PLCG2	5336	broad.mit.edu	37	chr16	81927341	81927341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggtgaccagctgcggagCgagtcgtccccagaagctta	10	6	13	12	3	0	2	0	1	0	1	2	4	1	3	3	2	4	2	3	2	2	1			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr16:81927341C>T	ENST00000359376.3	+	12	1228	c.1014C>T	c.(1012-1014)agC>agT	p.S338S		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	338	PI-PLC X-box.				intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						AGCTGCGGAGCGAGTCGTCCC	0.617													T	81927341	C	T	81927341	2	4	516	1	0	0	0	0	0	0	0	1	12113	767	27	1		1	PLCG2	16	81927341	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08	35160795	81927341	8427412	19	46485											
TP53	7157	broad.mit.edu	37	chr17	7577142	7577142	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacctcaaagctgttccgtcCcagtagattaccactactca	11	10	5	15	1	2	1	2	0	0	1	4	1	4	1	4	0	3	3	4	0	4	4			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:7577142C>T	ENST00000420246.2	-	8	928	c.796G>A	c.(796-798)Gga>Aga	p.G266R	TP53_ENST00000455263.2_Missense_Mutation_p.G266R|TP53_ENST00000269305.4_Missense_Mutation_p.G266R|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.G266R|TP53_ENST00000445888.2_Missense_Mutation_p.G266R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	266	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> A (in sporadic cancers; somatic mutation).|G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (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.G266R(46)|p.G266*(14)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*79(2)|p.N263fs*5(1)|p.G266T(1)|p.L265_K305del41(1)|p.G266_E271delGRNSFE(1)|p.E258fs*71(1)|p.G266fs*9(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		CTGTTCCGTCCCAGTAGATTA	0.517		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)			T	7577142	C	T	7577142	3	4	516	1	0	0	0	0	1	0	0	0	16482	632	22	2	490	2	TP53	17	7577142	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		7577142	73618068	20	46486											
EIF4A3	9775	broad.mit.edu	37	chr17	78117984	78117984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacttactgtgcgatgacatCtctccctttgatgatctgct	8	15	7	11	1	2	3	0	3	2	0	4	4	3	3	1	0	4	1	1	0	2	2			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr17:78117984C>G	ENST00000269349.3	-	2	450	c.229G>C	c.(229-231)Gat>Cat	p.D77H		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	77	Helicase ATP-binding.				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			GCGATGACATCTCTCCCTTTG	0.473													G	78117984	C	G	78117984	3	3	516	1	0	0	0	0	1	0	0	0	5067	913	32	4	1050	4	EIF4A3	17	78117984	Missense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08	70540842	78117984	3077226	21	46487											
NUMBL	9253	broad.mit.edu	37	chr19	41173875	41173877	+	In_Frame_Del	DEL	TGC	TGC	-																															ctgaggctgcttgctgctgtTgctgctgctgctgctgctgc																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr19:41173875_41173877delTGC	ENST00000252891.4	-	10	1493_1495	c.1326_1328delGCA	c.(1324-1329)cagcaa>caa	p.442_443QQ>Q	NUMBL_ENST00000540131.1_In_Frame_Del_p.401_402QQ>Q|NUMBL_ENST00000598779.1_In_Frame_Del_p.401_402QQ>Q	NM_004756.3	NP_004747.1	Q9Y6R0	NUMBL_HUMAN	numb homolog (Drosophila)-like	442	Poly-Gln.				cytokine-mediated signaling pathway|lateral ventricle development|neuroblast division in subventricular zone|protein metabolic process	cytoplasm	protein binding			NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)	16			Lung(22;0.000393)|LUSC - Lung squamous cell carcinoma(20;0.00105)			ttgctgctgttgctgctgctgct	0.66													-	41173877	TGC	-	41173875	7	5	516	1	0	1	0	1	0	0	0	0	10828	1812	63	0	505	0	NUMBL	19	41173875	In_Frame_Del	DEL	TGC	TCGA-HT-7472-01A-11D-2024-08		41173875	17955108	22	46488											
NCOA3	8202	broad.mit.edu	37	chr20	46267764	46267764	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaacaggtttgaaaagttCacagtctgtgcagtctattc	11	14	8	8	0	4	1	2	1	2	0	5	1	4	1	0	1	2	3	0	1	4	5			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr20:46267764C>G	ENST00000372004.3	+	14	2741	c.2525C>G	c.(2524-2526)tCa>tGa	p.S842*	NCOA3_ENST00000341724.6_Intron|NCOA3_ENST00000371998.3_Nonsense_Mutation_p.S842*|NCOA3_ENST00000371997.3_Nonsense_Mutation_p.S852*	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	842					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						TTGAAAAGTTCACAGTCTGTG	0.388													G	46267764	C	G	46267764	4	3	516	1	0	0	0	0	0	1	0	0	10306	838	29	4	2601	4	NCOA3	20	46267764	Nonsense_Mutation	SNP	C	TCGA-HT-7472-01A-11D-2024-08		46267764	16757756	23	46489											
POLR3H	171568	broad.mit.edu	37	chr22	41936719	41936719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctttggtgtgtgatgcGccatccccagggaatacata	9	10	10	12	1	0	1	0	1	0	0	1	2	1	2	5	2	2	0	5	2	3	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chr22:41936719G>A	ENST00000355209.4	-	2	535	c.192C>T	c.(190-192)ggC>ggT	p.G64G	POLR3H_ENST00000396504.2_Silent_p.G64G|POLR3H_ENST00000337566.5_Silent_p.G64G|POLR3H_ENST00000420561.1_Intron|POLR3H_ENST00000407461.1_Silent_p.G64G	NM_001018050.2	NP_001018060.1	Q9Y535	RPC8_HUMAN	polymerase (RNA) III (DNA directed) polypeptide H (22.9kD)	64					innate immune response|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity	p.G64G(2)		breast(1)|lung(5)|skin(1)|urinary_tract(1)	8						TGTGTGATGCGCCATCCCCAG	0.502													A	41936719	G	A	41936719	2	1	516	1	0	0	0	0	0	0	0	1	12313	1074	38	1		1	POLR3H	22	41936719	Silent	SNP	G	TCGA-HT-7472-01A-11D-2024-08		41936719	9367847	24	46490											
BCOR	54880	broad.mit.edu	37	chrX	39934221	39934221	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tccactgtctcgggtgtattCggtttgaactgcatctctgg	5	15	11	10	2	2	1	0	1	2	0	6	1	3	1	1	3	2	3	1	3	2	3			TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:39934221C>G	ENST00000342274.4	-	4	740	c.378G>C	c.(376-378)ccG>ccC	p.P126P	BCOR_ENST00000378444.4_Silent_p.P126P|BCOR_ENST00000397354.3_Silent_p.P126P|BCOR_ENST00000378455.4_Silent_p.P126P	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	126					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CGGGTGTATTCGGTTTGAACT	0.507			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						G	39934221	C	G	39934221	2	3	516	1	0	0	0	0	0	0	0	1	1391	871	31	4		4	BCOR	23	39934221	Silent	SNP	C	TCGA-HT-7472-01A-11D-2024-08		39934221	115336339	25	46491											
ATRX	546	broad.mit.edu	37	chrX	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aagcaacttgcaccttttctTctctctaccatatgctccat																										TCGA-HT-7472-01A-11D-2024-08	TCGA-HT-7472-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	829d4bf0-c9c6-4cec-a549-6c8731d3e5c0	e9d41667-1202-4755-a988-b26f4a334717	g.chrX:76937477_76937480delTCTC	ENST00000373344.5	-	9	3482_3485	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.EK1090fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1090					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)	CACCTTTTCTTCTCTCTACCATAT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937480	TCTC	-	76937477	7	5	516	1	0	1	0	1	0	0	0	0	1213	1792	62	0	4315	0	ATRX	23	76937477	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7472-01A-11D-2024-08	37003256	76937477	78333083	26	46492											
RYR2	6262	broad.mit.edu	37	chr1	237753198	237753198	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catctgtggcttacaagaggGctatgaaccatttgccgtta	10	12	10	9	1	1	2	0	1	1	1	1	2	1	2	2	2	3	3	2	2	5	4			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr1:237753198G>T	ENST00000366574.2	+	30	4021	c.3704G>T	c.(3703-3705)gGc>gTc	p.G1235V	RYR2_ENST00000542537.1_Missense_Mutation_p.G1219V|RYR2_ENST00000360064.6_Missense_Mutation_p.G1233V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1235	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTACAAGAGGGCTATGAACCA	0.433													T	237753198	G	T	237753198	3	4	517	1	0	0	0	0	1	0	0	0	13860	1203	42	4	3822	4	RYR2	1	237753198	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		237753198	11497423	1	46493											
SLC38A11	151258	broad.mit.edu	37	chr2	165755112	165755112	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgaatccaaaaaccatCaccacagcaccaatgggaag	18	4	7	12	1	1	1	1	1	0	0	2	3	2	2	4	1	2	1	4	1	5	0			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:165755112C>A	ENST00000303735.4	-	10	1320	c.990G>T	c.(988-990)gtG>gtT	p.V330V	SLC38A11_ENST00000409058.1_Silent_p.V383V|SLC38A11_ENST00000409662.1_Silent_p.V352V|SLC38A11_ENST00000409149.3_Silent_p.V352V	NM_173512.2	NP_775783.1	Q08AI6	S38AB_HUMAN	solute carrier family 38, member 11	352					amino acid transport|sodium ion transport	integral to membrane				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)	15						CAAAAACCATCACCACAGCAC	0.418													A	165755112	C	A	165755112	2	1	517	1	0	0	0	0	0	0	0	1	14697	813	29	4		4	SLC38A11	2	165755112	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		165755112	77444261	2	46494											
SSB	6741	broad.mit.edu	37	chr2	170665016	170665016	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattactttgccaaaaaaaaTgaagaaagaaaacaaaataa	25	7	5	4	0	0	3	0	1	0	2	0	4	0	3	1	0	3	0	1	0	12	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:170665016T>A	ENST00000409333.1	+	7	826	c.579T>A	c.(577-579)aaT>aaA	p.N193K	SSB_ENST00000260956.4_Missense_Mutation_p.N193K			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	193					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						CCAAAAAAAATGAAGAAAGAA	0.318													A	170665016	T	A	170665016	3	1	517	1	0	0	0	0	1	0	0	0	15274	1461	51	5	601	5	SSB	2	170665016	Missense_Mutation	SNP	T	TCGA-HT-7473-01A-11D-2024-08	4909904	170665016	72534357	3	46495											
INO80D	54891	broad.mit.edu	37	chr2	206921218	206921218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactgaaccctgcggtggcGctggaggttttaaagaagta	11	9	14	7	2	0	3	0	1	0	2	0	4	0	4	1	4	2	3	1	4	5	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:206921218G>A	ENST00000403263.1	-	4	1072	c.668C>T	c.(667-669)gCg>gTg	p.A223V		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	223					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CTGCGGTGGCGCTGGAGGTTT	0.562													A	206921218	G	A	206921218	3	1	517	1	0	0	0	0	1	0	0	0	7807	1087	38	1	2447	1	INO80D	2	206921218	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	36256202	206921218	36278155	4	46496											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	517	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	2191894	209113112	34086261	5	46497											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241241	60241241	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtgggcagcgattgcgtgGtcagtgattgcgaggtcagt	6	10	18	7	4	2	1	2	1	0	0	2	3	2	1	0	3	3	1	0	3	0	2	rs77149936	by1000genomes	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr5:60241241G>C	ENST00000511107.1	+	1	208	c.159G>C	c.(157-159)tgG>tgC	p.W53C	NDUFAF2_ENST00000296597.5_Intron			Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2	0						membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				CGATTGCGTGGTCAGTGATTG	0.547													C	60241241	G	C	60241241	3	2	517	1	0	0	0	0	1	0	0	0	10351	1276	44	4		4	NDUFAF2	5	60241241	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		60241241	120674019	6	46498											
TBX18	9096	broad.mit.edu	37	chr6	85448225	85448225	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagttaccttgcttgggAattccagggatatcttcaaa	10	14	10	7	0	2	1	1	1	1	0	3	3	3	3	2	2	2	2	2	2	4	6			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr6:85448225A>T	ENST00000369663.5	-	7	1426	c.1089T>A	c.(1087-1089)atT>atA	p.I363I	TBX18_ENST00000606784.1_Silent_p.I205I	NM_001080508.1	NP_001073977.1	O95935	TBX18_HUMAN	T-box 18	363					multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|liver(1)|lung(31)|ovary(2)|pancreas(3)|prostate(6)|skin(3)	61		all_cancers(76;0.000283)|Acute lymphoblastic leukemia(125;3.66e-08)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0858)		BRCA - Breast invasive adenocarcinoma(108;0.0267)		CTTGCTTGGGAATTCCAGGGA	0.438													T	85448225	A	T	85448225	2	4	517	1	0	0	0	0	0	0	0	1	15753	242	9	5		5	TBX18	6	85448225	Silent	SNP	A	TCGA-HT-7473-01A-11D-2024-08		85448225	85666842	7	46499											
TTYH3	80727	broad.mit.edu	37	chr7	2696109	2696109	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggccctcttctccttcgtCacagccctcatgttcagctc	4	13	6	18	1	5	0	3	0	2	0	8	0	5	0	3	1	2	2	3	1	0	3			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:2696109C>G	ENST00000258796.7	+	11	1396	c.1191C>G	c.(1189-1191)gtC>gtG	p.V397V	TTYH3_ENST00000407643.1_Silent_p.V365V|TTYH3_ENST00000403167.1_Silent_p.V226V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	397						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		TCTCCTTCGTCACAGCCCTCA	0.642													G	2696109	C	G	2696109	2	3	517	1	0	0	0	0	0	0	0	1	16843	813	29	4		4	TTYH3	7	2696109	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		2696109	156442554	8	46500											
CALCR	799	broad.mit.edu	37	chr7	93072938	93072938	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcccaagagataataccaCcgcaagcgttgcttctcagt	12	8	8	13	2	1	1	1	0	1	1	2	2	1	1	3	0	4	3	3	0	4	4	rs149950588		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:93072938C>G	ENST00000359558.2	-	11	1181	c.882G>C	c.(880-882)cgG>cgC	p.R294R	CALCR_ENST00000421592.1_Silent_p.R276R|CALCR_ENST00000394441.1_Silent_p.R260R|CALCR_ENST00000426151.1_Silent_p.R260R|CALCR_ENST00000360249.4_Silent_p.R276R	NM_001164737.1	NP_001158209.1	P30988	CALCR_HUMAN	calcitonin receptor	276					activation of adenylate cyclase activity by G-protein signaling pathway|elevation of cytosolic calcium ion concentration|positive regulation of adenylate cyclase activity|response to glucocorticoid stimulus	integral to plasma membrane	calcitonin binding|calcitonin receptor activity|protein binding	p.R260R(1)|p.R294R(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Salmon Calcitonin(DB00017)	GATAATACCACCGCAAGCGTT	0.443													G	93072938	C	G	93072938	2	3	517	1	0	0	0	0	0	0	0	1	2605	494	18	4		4	CALCR	7	93072938	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08	90376829	93072938	66065725	9	46501											
AGFG2	3268	broad.mit.edu	37	chr7	100137017	100137018	+	Frame_Shift_Ins	INS	-	-	G																															gcccgggcggcggggtcagcINSgggggcaaggcggaggcgga																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr7:100137017_100137018insG	ENST00000300176.4	+	1	170_171	c.48_49insG	c.(49-51)gggfs	p.G17fs	AGFG2_ENST00000262935.4_Frame_Shift_Ins_p.G17fs	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	17					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						gcggggtcagcgggggcaaggc	0.733													G	100137018	-	G	100137017	7	5	517	1	0	1	1	0	0	0	0	0	381	767	27	0	50	0	AGFG2	7	100137017	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08	7064079	100137017	59001646	10	46502											
DMBT1	1755	broad.mit.edu	37	chr10	124390734	124390734	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccactctctggcagtgcCggaaccgaggctggttctcc	7	9	11	14	2	2	0	0	0	2	0	5	2	3	1	4	4	2	3	4	4	2	1			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr10:124390734C>T	ENST00000338354.3	+	46	6002	c.5896C>T	c.(5896-5898)Cgg>Tgg	p.R1966W	DMBT1_ENST00000368956.2_Missense_Mutation_p.R1338W|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1338W|DMBT1_ENST00000368909.3_Missense_Mutation_p.R1966W|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1956W|DMBT1_ENST00000359586.6_Missense_Mutation_p.R686W|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1956W			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1966	SRCR 14.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				CTGGCAGTGCCGGAACCGAGG	0.542													T	124390734	C	T	124390734	3	4	517	1	0	0	0	0	1	0	0	0	4616	643	23	1	6078	1	DMBT1	10	124390734	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		124390734	11144013	11	46503											
NLRP6	171389	broad.mit.edu	37	chr11	281637	281637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggaggacgcgtttgtgCgccaagccctgtgccggttc	5	8	15	13	5	0	0	0	0	0	0	1	2	0	2	3	3	3	3	3	3	1	2			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:281637C>T	ENST00000534750.1	+	4	2108	c.1903C>T	c.(1903-1905)Cgc>Tgc	p.R635C	NLRP6_ENST00000312165.5_Missense_Mutation_p.R635C	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	635						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		CGCGTTTGTGCGCCAAGCCCT	0.647													T	281637	C	T	281637	3	4	517	1	0	0	0	0	1	0	0	0	10557	768	27	1	1917	1	NLRP6	11	281637	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		281637	134724879	12	46504											
EXPH5	23086	broad.mit.edu	37	chr11	108381471	108381471	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgtttaactgaagatCtattttccccctttactagg	9	17	6	9	0	2	2	0	1	2	1	3	2	3	2	2	1	2	1	2	1	5	8			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr11:108381471C>A	ENST00000265843.4	-	6	4873	c.4763G>T	c.(4762-4764)aGa>aTa	p.R1588I	EXPH5_ENST00000525344.1_Missense_Mutation_p.R1581I|EXPH5_ENST00000443411.1_Missense_Mutation_p.R1400I|EXPH5_ENST00000428840.1_Missense_Mutation_p.R1512I	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1588					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACTGAAGATCTATTTTCCCC	0.423													A	108381471	C	A	108381471	3	1	517	1	0	0	0	0	1	0	0	0	5364	913	32	4	1210	4	EXPH5	11	108381471	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	108099834	108381471	26625045	13	46505											
CRADD	8738	broad.mit.edu	37	chr12	94243956	94243956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcatccgttggcggcagcGcttcgggaagcaggccacct	6	8	13	14	4	1	0	1	0	0	0	3	1	2	1	3	4	2	4	3	4	1	3	rs141179774	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:94243956G>A	ENST00000542893.2	+	3	827	c.509G>A	c.(508-510)cGc>cAc	p.R170H	CRADD_ENST00000332896.3_Missense_Mutation_p.R170H|CRADD_ENST00000548330.1_3'UTR|CRADD_ENST00000541813.1_Intron|CRADD_ENST00000548483.1_Intron			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	170	Death.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						TGGCGGCAGCGCTTCGGGAAG	0.637													A	94243956	G	A	94243956	3	1	517	1	0	0	0	0	1	0	0	0	3876	1087	38	1	515	1	CRADD	12	94243956	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		94243956	39607939	14	46506											
LRRC43	254050	broad.mit.edu	37	chr12	122685392	122685392	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcctggtgatcctggagCccctgctcgccggggagccc	3	6	17	15	2	0	1	0	1	0	0	2	3	1	3	6	6	3	1	6	6	0	0			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr12:122685392C>A	ENST00000339777.4	+	10	1748	c.1720C>A	c.(1720-1722)Ccc>Acc	p.P574T	LRRC43_ENST00000425921.1_Missense_Mutation_p.P389T|LRRC43_ENST00000537733.1_3'UTR	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	574										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		GATCCTGGAGCCCCTGCTCGC	0.667													A	122685392	C	A	122685392	3	1	517	1	0	0	0	0	1	0	0	0	9071	739	26	4	1758	4	LRRC43	12	122685392	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	28441436	122685392	11166503	15	46507											
VPS18	57617	broad.mit.edu	37	chr15	41192203	41192203	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtgcaacgggaggcccGagatgtctggcgcacctatc	8	6	13	14	4	1	1	0	0	1	1	2	3	1	2	3	3	2	2	3	3	2	1			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr15:41192203G>T	ENST00000220509.5	+	4	1526	c.1187G>T	c.(1186-1188)cGa>cTa	p.R396L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	396					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CGGGAGGCCCGAGATGTCTGG	0.627													T	41192203	G	T	41192203	3	4	517	1	0	0	0	0	1	0	0	0	17296	1058	37	4	1201	4	VPS18	15	41192203	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		41192203	61339189	16	46508											
ZZEF1	23140	broad.mit.edu	37	chr17	3999148	3999148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttttacaaattgcctgagCtcctgaagcttccatttgtc	8	16	6	11	0	0	2	0	2	0	0	3	2	2	2	3	0	4	2	3	0	3	6			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:3999148C>A	ENST00000381638.2	-	11	2014	c.1890G>T	c.(1888-1890)gaG>gaT	p.E630D	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	630							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATTGCCTGAGCTCCTGAAGCT	0.333													A	3999148	C	A	3999148	3	1	517	1	0	0	0	0	1	0	0	0	18352	796	28	4	7175	4	ZZEF1	17	3999148	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08		3999148	77196062	17	46509											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	517	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08	3577973	7577121	73618089	18	46510											
KLHL14	57565	broad.mit.edu	37	chr18	30349853	30349853	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctggaagagcgccagctcCgactccacggggggcggcag	8	4	16	13	4	1	1	0	0	1	1	3	3	3	2	3	5	2	2	3	5	1	0			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr18:30349853C>T	ENST00000359358.4	-	2	1140	c.702G>A	c.(700-702)tcG>tcA	p.S234S	KLHL14_ENST00000358095.4_Silent_p.S234S|AC012123.1_ENST00000426194.1_Silent_p.S27S	NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	234	BACK.					cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						GCGCCAGCTCCGACTCCACGG	0.652													T	30349853	C	T	30349853	2	4	517	1	0	0	0	0	0	0	0	1	8428	639	23	1		1	KLHL14	18	30349853	Silent	SNP	C	TCGA-HT-7473-01A-11D-2024-08		30349853	47727395	19	46511											
C19orf53	28974	broad.mit.edu	37	chr19	13888924	13888924	+	Missense_Mutation	SNP	G	G	A																															cgtggtgatgaaagccagcaGcagcctgcccaagaagctgg																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888924G>A	ENST00000588234.1	+	3	522	c.212G>A	c.(211-213)aGc>aAc	p.S71N	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28N	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAAGCCAGCAGCAGCCTGCCC	0.597													A	13888924	G	A	13888924	3	1	517	1	0	0	0	0	1	0	0	0	1954	971	34	2	222	2	C19orf53	19	13888924	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		13888924	45240059	20	46512	153	2									
C19orf53	28974	broad.mit.edu	37	chr19	13888925	13888925	+	Missense_Mutation	SNP	C	C	A																															gtggtgatgaaagccagcagCagcctgcccaagaagctggc																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:13888925C>A	ENST00000588234.1	+	3	523	c.213C>A	c.(211-213)agC>agA	p.S71R	C19orf53_ENST00000593274.1_Missense_Mutation_p.S28R	NM_014047.2	NP_054766.1	Q9UNZ5	L10K_HUMAN	chromosome 19 open reading frame 53	71										breast(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	6			OV - Ovarian serous cystadenocarcinoma(19;7.7e-24)|Epithelial(5;2.53e-19)			AAGCCAGCAGCAGCCTGCCCA	0.602													A	13888925	C	A	13888925	3	1	517	1	0	0	0	0	1	0	0	0	1954	709	25	4	223	4	C19orf53	19	13888925	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1	13888925	45240058	21	46513	153	2									
CYP4F3	4051	broad.mit.edu	37	chr19	15752394	15752394	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcccgcaacccccgaaaCggaattggttcttgggtcac	8	10	10	13	3	2	0	1	0	1	0	3	2	3	1	3	3	2	3	3	3	3	4	rs138587161		TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr19:15752394C>T	ENST00000221307.8	+	2	216	c.169C>T	c.(169-171)Cgg>Tgg	p.R57W	CYP4F3_ENST00000591058.1_Missense_Mutation_p.R57W|CYP4F3_ENST00000586182.2_Missense_Mutation_p.R57W|CYP4F3_ENST00000585846.1_Missense_Mutation_p.R57W	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						ACCCCCGAAACGGAATTGGTT	0.622													T	15752394	C	T	15752394	3	4	517	1	0	0	0	0	1	0	0	0	4223	527	19	1	171	1	CYP4F3	19	15752394	Missense_Mutation	SNP	C	TCGA-HT-7473-01A-11D-2024-08	1863469	15752394	43376589	22	46514											
PMEPA1	56937	broad.mit.edu	37	chr20	56284580	56284580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagttgcacgtgcaggagAcattgggctgcccggcggcg	6	7	17	11	4	0	1	0	0	0	1	0	2	0	1	1	4	4	5	1	4	0	2			TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr20:56284580A>G	ENST00000341744.3	-	1	378	c.59T>C	c.(58-60)gTc>gCc	p.V20A	PMEPA1_ENST00000347215.4_Intron|PMEPA1_ENST00000395816.3_Intron|PMEPA1_ENST00000472841.1_Intron|PMEPA1_ENST00000265626.4_Intron	NM_020182.4	NP_064567.2	Q969W9	PMEPA_HUMAN	prostate transmembrane protein, androgen induced 1	20					androgen receptor signaling pathway	integral to membrane|plasma membrane	WW domain binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)	16						CGTGCAGGAGACATTGGGCTg	0.721													G	56284580	A	G	56284580	3	3	517	1	0	0	0	0	1	0	0	0	12209	275	10	3	820	3	PMEPA1	20	56284580	Missense_Mutation	SNP	A	TCGA-HT-7473-01A-11D-2024-08		56284580	6740940	23	46515											
DGCR14	8220	broad.mit.edu	37	chr22	19130247	19130247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcctcatacagggtggcGggggctcccgggacatcttg	5	8	17	11	2	2	0	1	0	1	0	4	1	4	1	2	6	1	1	2	6	1	2	rs111488352	byFrequency	TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chr22:19130247G>A	ENST00000252137.6	-	2	339	c.296C>T	c.(295-297)cCg>cTg	p.P99L		NM_022719.2	NP_073210.1	Q96DF8	DGC14_HUMAN	DiGeorge syndrome critical region gene 14	99					nervous system development	catalytic step 2 spliceosome				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	16	Colorectal(54;0.0993)					ACAGGGTGGCGGGGGCTCCCG	0.582													A	19130247	G	A	19130247	3	1	517	1	0	0	0	0	1	0	0	0	4499	1116	39	1	1170	1	DGCR14	22	19130247	Missense_Mutation	SNP	G	TCGA-HT-7473-01A-11D-2024-08		19130247	32174319	24	46516											
ATRX	546	broad.mit.edu	37	chrX	76938452	76938453	+	Frame_Shift_Ins	INS	-	-	T																															cccgcctgagtctttaaatcINSatacaaagtcttatggtttg																										TCGA-HT-7473-01A-11D-2024-08	TCGA-HT-7473-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1b6fde57-4d81-469c-a142-234ce43eee12	bdddf6da-3421-4597-9dec-c5e1ec3994e8	g.chrX:76938452_76938453insT	ENST00000373344.5	-	9	2509_2510	c.2295_2296insA	c.(2293-2298)tatgatfs	p.D766fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.D728fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	766					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)	GTCTTTAAATCATACAAAGTCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76938453	-	T	76938452	7	5	517	1	0	1	1	0	0	0	0	0	1213	826	29	0	5290	0	ATRX	23	76938452	Frame_Shift_Ins	INS	-	TCGA-HT-7473-01A-11D-2024-08		76938452	78332108	25	46517											
DOCK7	85440	broad.mit.edu	37	chr1	62959981	62959981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccacaggaagatatttccGgtcctccagcatgctcaaat	11	10	7	13	1	1	1	1	0	0	1	5	2	5	2	4	2	2	2	4	2	3	2	rs76581585		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:62959981G>A	ENST00000251157.5	-	40	5188	c.5155C>T	c.(5155-5157)Cgg>Tgg	p.R1719W	DOCK7_ENST00000340370.5_Missense_Mutation_p.R1697W	NM_001271999.1	NP_001258928.1	Q96N67	DOCK7_HUMAN	dedicator of cytokinesis 7	1728	DHR-2.				activation of Rac GTPase activity|axonogenesis|establishment of neuroblast polarity|microtubule cytoskeleton organization|positive regulation of peptidyl-serine phosphorylation	axon|basal part of cell|growth cone	GTP binding|guanyl-nucleotide exchange factor activity|Rac GTPase binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(19)|lung(42)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	92						AGATATTTCCGGTCCTCCAGC	0.428													A	62959981	G	A	62959981	3	1	518	1	0	0	0	0	1	0	0	0	4731	1115	39	1	1284	1	DOCK7	1	62959981	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		62959981	186290640	1	46518											
TNN	63923	broad.mit.edu	37	chr1	175048764	175048764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgagaagcgctgtcccggCgactgcagcggccacggctt	7	5	15	14	6	0	1	0	0	0	1	1	3	1	1	2	3	4	3	2	3	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr1:175048764C>T	ENST00000239462.4	+	3	818	c.705C>T	c.(703-705)ggC>ggT	p.G235G		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	235	EGF-like 3.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GCTGTCCCGGCGACTGCAGCG	0.667													T	175048764	C	T	175048764	2	4	518	1	0	0	0	0	0	0	0	1	16423	755	27	1		1	TNN	1	175048764	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	112088783	175048764	74201857	2	46519											
AFF3	3899	broad.mit.edu	37	chr2	100218011	100218013	+	In_Frame_Del	DEL	GCT	GCT	-																															ctggaggagctgctgctgccGctgctgctgctgctgctgct																										TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:100218011_100218013delGCT	ENST00000409236.2	-	12	1367_1369	c.1255_1257delAGC	c.(1255-1257)agcdel	p.S419del	AFF3_ENST00000356421.2_In_Frame_Del_p.S444del|AFF3_ENST00000317233.4_In_Frame_Del_p.S419del|AFF3_ENST00000409579.1_In_Frame_Del_p.S444del			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3		Poly-Ser.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						tgctgctgccgctgctgctgctg	0.685													-	100218013	GCT	-	100218011	7	5	518	1	0	1	0	1	0	0	0	0	358	1078	38	0	2471	0	AFF3	2	100218011	In_Frame_Del	DEL	GCT	TCGA-HT-7474-01A-11D-2024-08		100218011	142981362	3	46520											
SSB	6741	broad.mit.edu	37	chr2	170667377	170667377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctctggtataggggataattCtatttaaagaaaaagccaag	16	11	9	5	0	2	1	0	0	2	1	2	2	2	2	1	3	1	1	1	3	9	7			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:170667377C>T	ENST00000409333.1	+	10	1067	c.820C>T	c.(820-822)Cta>Tta	p.L274L	SSB_ENST00000260956.4_Silent_p.L274L|METTL5_ENST00000409837.1_Intron			P05455	LA_HUMAN	Sjogren syndrome antigen B (autoantigen La)	274					histone mRNA metabolic process|tRNA modification	nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding|tRNA binding			endometrium(3)|large_intestine(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GGGGATAATTCTATTTAAAGA	0.353													T	170667377	C	T	170667377	2	4	518	1	0	0	0	0	0	0	0	1	15274	912	32	2		2	SSB	2	170667377	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	70449366	170667377	72531996	4	46521											
TTN	7273	broad.mit.edu	37	chr2	179569078	179569078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaattggcatgtcatggTgcaagtctggccttctttca	10	13	10	8	0	4	1	2	0	2	1	4	1	4	1	1	3	1	2	1	3	3	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179569078T>C	ENST00000589042.1	-	106	30243	c.30019A>G	c.(30019-30021)Acc>Gcc	p.T10007A	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T8763A|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.T9690A|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9690	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATGTCATGGTGCAAGTCTGG	0.423													C	179569078	T	C	179569078	3	2	518	1	0	0	0	0	1	0	0	0	16837	1696	59	3	74538	3	TTN	2	179569078	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	8901701	179569078	63630295	5	46522											
TTN	7273	broad.mit.edu	37	chr2	179641669	179641669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatttactttgcatcttGtagtgtctctgccagcttta	8	17	6	10	0	2	0	0	0	2	0	3	0	2	0	1	0	5	3	1	0	4	7			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:179641669G>T	ENST00000589042.1	-	28	5146	c.4922C>A	c.(4921-4923)aCa>aAa	p.T1641K	TTN_ENST00000359218.5_Missense_Mutation_p.T1595K|TTN_ENST00000460472.2_Missense_Mutation_p.T1595K|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T1641K|TTN_ENST00000360870.5_Missense_Mutation_p.T1641K|TTN_ENST00000342175.6_Missense_Mutation_p.T1595K|TTN_ENST00000591111.1_Missense_Mutation_p.T1641K	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1375	Ig-like 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGCATCTTGTAGTGTCTCT	0.463													T	179641669	G	T	179641669	3	4	518	1	0	0	0	0	1	0	0	0	16837	1377	48	4	106406	4	TTN	2	179641669	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	72591	179641669	63557704	6	46523											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	518	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	29471443	209113112	34086261	7	46524											
MTERFD2	130916	broad.mit.edu	37	chr2	242039161	242039161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagttattggatctaacaCaagataactcctcaatgacc	15	11	5	10	0	2	2	1	1	1	1	3	3	3	3	2	1	2	1	2	1	6	5			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr2:242039161C>T	ENST00000391980.2	-	2	228	c.170G>A	c.(169-171)tGt>tAt	p.C57Y	MTERFD2_ENST00000407095.3_Missense_Mutation_p.C57Y|MTERFD2_ENST00000464344.2_Intron|MTERFD2_ENST00000495694.1_Missense_Mutation_p.C57Y|MTERFD2_ENST00000406593.1_Intron	NM_182501.3	NP_872307.2	Q7Z6M4	MTER2_HUMAN	MTERF domain containing 2	57										endometrium(3)|large_intestine(6)|lung(5)|ovary(1)|skin(2)|urinary_tract(3)	20		all_cancers(19;4.67e-31)|all_epithelial(40;8.67e-13)|Breast(86;0.000141)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;2.47e-32)|all cancers(36;1.79e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.59e-14)|Kidney(56;3.21e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;2.81e-06)|Lung(119;0.000509)|LUSC - Lung squamous cell carcinoma(224;0.00442)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0886)		GGATCTAACACAAGATAACTC	0.498													T	242039161	C	T	242039161	3	4	518	1	0	0	0	0	1	0	0	0	9996	478	17	2	987	2	MTERFD2	2	242039161	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	32926049	242039161	1160212	8	46525											
GABRB1	2560	broad.mit.edu	37	chr4	47427857	47427857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccgcgaggcctacgggcGcgccctggaccggcacgggg	5	2	18	16	7	0	0	0	0	0	0	0	2	0	1	4	6	2	1	4	6	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:47427857G>A	ENST00000295454.3	+	9	1539	c.1247G>A	c.(1246-1248)cGc>cAc	p.R416H	GABRB1_ENST00000538619.1_Missense_Mutation_p.R346H	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	416					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	GCCTACGGGCGCGCCCTGGAC	0.642													A	47427857	G	A	47427857	3	1	518	1	0	0	0	0	1	0	0	0	6218	1087	38	1	1281	1	GABRB1	4	47427857	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		47427857	143726419	9	46526											
GK2	2712	broad.mit.edu	37	chr4	80327819	80327819	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagactgactggtaacccaAcccattgacttcattacggc	11	9	9	12	1	1	3	1	2	0	1	1	4	1	3	2	3	3	1	2	3	3	4			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr4:80327819A>G	ENST00000358842.3	-	1	1553	c.1536T>C	c.(1534-1536)ggT>ggC	p.G512G		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	512					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						TGGTAACCCAACCCATTGACT	0.438													G	80327819	A	G	80327819	2	3	518	1	0	0	0	0	0	0	0	1	6477	30	2	3		3	GK2	4	80327819	Silent	SNP	A	TCGA-HT-7474-01A-11D-2024-08	32899962	80327819	110826457	10	46527											
ACSL6	23305	broad.mit.edu	37	chr5	131329917	131329917	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggatctcctgtgtctgcAtcttctccagaagtgagagg	8	12	11	10	0	5	2	1	1	4	2	7	4	5	3	2	2	1	1	2	2	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr5:131329917A>G	ENST00000379264.2	-	2	185	c.77T>C	c.(76-78)aTg>aCg	p.M26T	ACSL6_ENST00000543479.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379272.2_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379249.3_Start_Codon_SNP_p.M1T|ACSL6_ENST00000296869.4_Missense_Mutation_p.M26T|ACSL6_ENST00000544770.1_5'UTR|ACSL6_ENST00000379244.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379240.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000477640.1_5'UTR|ACSL6_ENST00000431707.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379255.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000357096.1_Start_Codon_SNP_p.M1T|ACSL6_ENST00000379246.1_Missense_Mutation_p.M12T	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	1					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTGTGTCTGCATCTTCTCCAG	0.547													G	131329917	A	G	131329917	3	3	518	1	0	0	0	0	1	0	0	0	181	217	8	3	2253	3	ACSL6	5	131329917	Missense_Mutation	SNP	A	TCGA-HT-7474-01A-11D-2024-08		131329917	49585343	11	46528											
OR2J3	442186	broad.mit.edu	37	chr6	29080500	29080500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatcaaggcaagttcattgCcctcttttatactgttgtca	10	15	7	9	0	4	1	3	0	1	1	4	1	4	1	1	1	2	3	1	1	4	6			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:29080500C>T	ENST00000377169.1	+	1	833	c.833C>T	c.(832-834)gCc>gTc	p.A278V		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						AAGTTCATTGCCCTCTTTTAT	0.448													T	29080500	C	T	29080500	3	4	518	1	0	0	0	0	1	0	0	0	11080	739	26	2	835	2	OR2J3	6	29080500	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		29080500	142034567	12	46529											
NOTCH4	4855	broad.mit.edu	37	chr6	32188188	32188188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacccccatacctgtgcGtccaggtgggcagaggcagg	7	7	13	14	1	1	1	0	0	1	1	2	1	2	1	4	4	3	2	4	4	2	2			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr6:32188188G>A	ENST00000375023.3	-	6	1291	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	385	EGF-like 9; calcium-binding (Potential).				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						ATACCTGTGCGTCCAGGTGGG	0.592													A	32188188	G	A	32188188	3	1	518	1	0	0	0	0	1	0	0	0	10627	1145	40	1	4958	1	NOTCH4	6	32188188	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	3107688	32188188	138926879	13	46530											
ZPBP	11055	broad.mit.edu	37	chr7	49977166	49977166	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaccaggctgctattgcaTtgaaggcaatgaattccatc	12	11	8	10	0	0	2	0	2	0	0	2	2	1	2	2	2	3	4	2	2	5	5	rs138428432		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:49977166T>C	ENST00000046087.2	-	8	1083	c.1014A>G	c.(1012-1014)caA>caG	p.Q338Q	ZPBP_ENST00000419417.1_Silent_p.Q337Q|ZPBP_ENST00000491129.1_Intron	NM_001159878.1|NM_007009.2	NP_001153350.1|NP_008940.2	Q9BS86	ZPBP1_HUMAN	zona pellucida binding protein	338					binding of sperm to zona pellucida	extracellular region				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(3)	29	Glioma(55;0.08)|all_neural(89;0.245)					TGCTATTGCATTGAAGGCAAT	0.343													C	49977166	T	C	49977166	2	2	518	1	0	0	0	0	0	0	0	1	18318	1490	52	3		3	ZPBP	7	49977166	Silent	SNP	T	TCGA-HT-7474-01A-11D-2024-08		49977166	109161497	14	46531											
TAS2R16	50833	broad.mit.edu	37	chr7	122635637	122635637	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcacaataattgtcaaggActcaagcacatagatgatca	16	9	7	9	0	3	2	3	1	0	1	3	3	3	3	0	1	2	2	0	1	5	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr7:122635637A>G	ENST00000249284.2	-	1	117	c.52T>C	c.(52-54)Tcc>Ccc	p.S18P		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	18					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						ATTGTCAAGGACTCAAGCACA	0.453													G	122635637	A	G	122635637	3	3	518	1	0	0	0	0	1	0	0	0	15666	275	10	3	827	3	TAS2R16	7	122635637	Missense_Mutation	SNP	A	TCGA-HT-7474-01A-11D-2024-08	72658471	122635637	36503026	15	46532											
PAPPA	5069	broad.mit.edu	37	chr9	119139910	119139910	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctgctctgattcactGtgtcaaaggctgtgaggtga	8	12	11	10	0	4	3	3	3	1	0	4	3	4	3	1	2	1	2	1	2	1	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:119139910G>C	ENST00000328252.3	+	20	5030	c.4661G>C	c.(4660-4662)tGt>tCt	p.C1554S	PAPPA_ENST00000534838.1_Missense_Mutation_p.C592S|PAPPA_ENST00000483254.1_3'UTR	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1554	Sushi 5.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CTGATTCACTGTGTCAAAGGC	0.473													C	119139910	G	C	119139910	3	2	518	1	0	0	0	0	1	0	0	0	11508	1377	48	4	4739	4	PAPPA	9	119139910	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		119139910	22073521	16	46533											
SOHLH1	402381	broad.mit.edu	37	chr9	138588581	138588581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcaaggatgtgcggcaCgggctctgggctggccgacg	6	5	19	11	5	1	0	0	0	1	0	1	3	1	2	1	6	1	4	1	6	1	0	rs138843804		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr9:138588581C>T	ENST00000298466.5	-	5	598	c.538G>A	c.(538-540)Gtg>Atg	p.V180M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.V180M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	180					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		ATGTGCGGCACGGGCTCTGGG	0.632													T	138588581	C	T	138588581	3	4	518	1	0	0	0	0	1	0	0	0	15017	536	19	1	682	1	SOHLH1	9	138588581	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	19448671	138588581	2624850	17	46534											
INPP5A	3632	broad.mit.edu	37	chr10	134521843	134521843	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtcaagaaaaggcttcatCcggacgaggtggtgcattgc	10	9	14	8	2	2	1	2	0	0	1	3	3	3	2	1	5	2	2	1	5	3	2			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr10:134521843C>A	ENST00000368594.3	+	7	778	c.501C>A	c.(499-501)atC>atA	p.I167I	INPP5A_ENST00000368593.3_Silent_p.I167I|INPP5A_ENST00000487614.1_3'UTR	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	167				PQDYFPECKWSRKGFIRTRWC -> RRLLPRVQMVKKRLHP DEVV (in Ref. 5; CAA83500).	cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AAGGCTTCATCCGGACGAGGT	0.463													A	134521843	C	A	134521843	2	1	518	1	0	0	0	0	0	0	0	1	7812	845	30	4		4	INPP5A	10	134521843	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		134521843	1012904	18	46535											
SIK3	23387	broad.mit.edu	37	chr11	116719848	116719848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacatacataagcatcgtcGctgttctggatcgtgtggtg	9	12	11	9	3	1	0	0	0	1	0	4	1	1	1	0	2	3	3	0	2	3	3			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr11:116719848G>A	ENST00000375300.1	-	21	3668	c.3663C>T	c.(3661-3663)agC>agT	p.S1221S	SIK3_ENST00000434315.2_Silent_p.S1002S|SIK3_ENST00000292055.4_Silent_p.S1163S|AP006216.12_ENST00000444200.1_RNA|SIK3_ENST00000375288.1_Silent_p.S498S|SIK3_ENST00000488337.1_5'UTR|SIK3_ENST00000542607.1_Silent_p.S1103S|SIK3_ENST00000446921.2_Silent_p.S1161S			Q9Y2K2	SIK3_HUMAN	SIK family kinase 3	1163						cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	57						AAGCATCGTCGCTGTTCTGGA	0.597													A	116719848	G	A	116719848	2	1	518	1	0	0	0	0	0	0	0	1	14413	1078	38	1		1	SIK3	11	116719848	Silent	SNP	G	TCGA-HT-7474-01A-11D-2024-08		116719848	18286668	19	46536											
FSIP1	161835	broad.mit.edu	37	chr15	39910298	39910305	+	Frame_Shift_Del	DEL	CTGGAAAG	CTGGAAAG	-																															gcaatttagagatgatggacCtggaaagctgggggaacaca																								rs34939408		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr15:39910298_39910305delCTGGAAAG	ENST00000350221.3	-	11	1539_1546	c.1330_1337delCTTTCCAG	c.(1330-1338)ctttccaggfs	p.LSR444fs		NM_152597.4	NP_689810.3	Q8NA03	FSIP1_HUMAN	fibrous sheath interacting protein 1	444										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	23		all_cancers(109;2.66e-19)|all_epithelial(112;2.66e-16)|Lung NSC(122;1.5e-11)|all_lung(180;4.03e-10)|Melanoma(134;0.0575)|Ovarian(310;0.0827)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;8.22e-06)|BRCA - Breast invasive adenocarcinoma(123;0.142)		GATGATGGACCTGGAAAGCTGGGGGAAC	0.38													-	39910305	CTGGAAAG	-	39910298	7	5	518	1	0	1	0	1	0	0	0	0	6126	681	24	0	416	0	FSIP1	15	39910298	Frame_Shift_Del	DEL	CTGGAAAG	TCGA-HT-7474-01A-11D-2024-08		39910298	62621094	20	46537											
RPUSD1	113000	broad.mit.edu	37	chr16	837118	837118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgtgggcccggccctccGtgctgttcctgccaatggca	3	10	14	14	2	0	0	0	0	0	0	2	0	2	0	5	4	2	3	5	4	1	1	rs138346352		TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:837118G>A	ENST00000561734.1	-	3	611	c.368C>T	c.(367-369)aCg>aTg	p.T123M	RPUSD1_ENST00000565809.1_Intron|RPUSD1_ENST00000007264.2_Missense_Mutation_p.T123M|RPUSD1_ENST00000567114.1_De_novo_Start_InFrame			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	123					pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				CCGGCCCTCCGTGCTGTTCCT	0.692													A	837118	G	A	837118	3	1	518	1	0	0	0	0	1	0	0	0	13757	1145	40	1	582	1	RPUSD1	16	837118	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08		837118	89517635	21	46538											
SMPD3	55512	broad.mit.edu	37	chr16	68398674	68398674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaggagcagttatcaaagTtgaaatctccacagacgacg	15	7	10	9	2	2	3	1	1	1	2	3	5	2	4	1	1	1	3	1	1	3	2			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr16:68398674T>C	ENST00000219334.5	-	5	2138	c.1535A>G	c.(1534-1536)aAc>aGc	p.N512S	SMPD3_ENST00000563226.1_Missense_Mutation_p.N512S|SMPD3_ENST00000566009.1_5'UTR|SMPD3_ENST00000568373.1_Missense_Mutation_p.N512S	NM_018667.3	NP_061137.1	Q9NY59	NSMA2_HUMAN	sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II)	512		Important for substrate recognition (By similarity).			cell cycle|multicellular organismal development|sphingomyelin catabolic process	Golgi membrane|integral to membrane|plasma membrane	metal ion binding|sphingomyelin phosphodiesterase activity			breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0184)|Epithelial(162;0.0785)	Phosphatidylserine(DB00144)	GTTATCAAAGTTGAAATCTCC	0.572													C	68398674	T	C	68398674	3	2	518	1	0	0	0	0	1	0	0	0	14900	1725	60	3	452	3	SMPD3	16	68398674	Missense_Mutation	SNP	T	TCGA-HT-7474-01A-11D-2024-08	67561556	68398674	21956079	22	46539											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	2	4	4	0	4	4			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:7577138C>G	ENST00000420246.2	-	8	932	c.800G>C	c.(799-801)cGg>cCg	p.R267P	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267P|TP53_ENST00000359597.4_Missense_Mutation_p.R267P|TP53_ENST00000269305.4_Missense_Mutation_p.R267P|TP53_ENST00000455263.2_Missense_Mutation_p.R267P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			G	7577138	C	G	7577138	3	3	518	1	0	0	0	0	1	0	0	0	16482	652	23	4	486	4	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08		7577138	73618072	23	46540											
SMCR8	140775	broad.mit.edu	37	chr17	18220403	18220403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcaagatggagcaggaactgGgagatgaggagtacaaggaa	16	5	16	4	0	1	3	1	1	0	2	1	8	1	7	0	5	3	2	0	5	5	1			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr17:18220403G>A	ENST00000406438.3	+	1	1780	c.1300G>A	c.(1300-1302)Gga>Aga	p.G434R		NM_144775.2	NP_658988.2	Q8TEV9	SMCR8_HUMAN	Smith-Magenis syndrome chromosome region, candidate 8	434										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21						GCAGGAACTGGGAGATGAGGA	0.448													A	18220403	G	A	18220403	3	1	518	1	0	0	0	0	1	0	0	0	14886	1233	43	2	1302	2	SMCR8	17	18220403	Missense_Mutation	SNP	G	TCGA-HT-7474-01A-11D-2024-08	10643265	18220403	62974807	24	46541											
NINL	22981	broad.mit.edu	37	chr20	25436318	25436318	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatcactcacctgctccttCagcttatccactttctcttg	6	15	3	17	0	4	0	3	0	1	0	7	0	6	0	4	0	2	2	4	0	1	4			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436318C>T	ENST00000278886.6	-	23	4021	c.3948G>A	c.(3946-3948)ctG>ctA	p.L1316L	NINL_ENST00000422516.1_Silent_p.L967L|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1316					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CCTGCTCCTTCAGCTTATCCA	0.488													T	25436318	C	T	25436318	2	4	518	1	0	0	0	0	0	0	0	1	10496	813	29	2		2	NINL	20	25436318	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08		25436318	37589202	25	46542			1	65		2	2	85	C		7.868731e-05
NINL	22981	broad.mit.edu	37	chr20	25436402	25436402	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acccgctcttctgtggctttCagctgtttctcatgttcttc	3	18	7	13	1	5	0	2	0	4	0	7	0	5	0	1	1	1	5	1	1	0	5			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chr20:25436402C>T	ENST00000278886.6	-	23	3937	c.3864G>A	c.(3862-3864)ctG>ctA	p.L1288L	NINL_ENST00000422516.1_Silent_p.L939L|NINL_ENST00000464285.1_5'UTR	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	1288					G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						CTGTGGCTTTCAGCTGTTTCT	0.537													T	25436402	C	T	25436402	2	4	518	1	0	0	0	0	0	0	0	1	10496	813	29	2		2	NINL	20	25436402	Silent	SNP	C	TCGA-HT-7474-01A-11D-2024-08	84	25436402	37589118	26	46543			1	65		2	2	85	C		7.868731e-05
TLR7	51284	broad.mit.edu	37	chrX	12906637	12906645	+	In_Frame_Del	DEL	CGGAAAAGG	CGGAAAAGG	-																															agtccaagttcctccagctcCggaaaaggctctgtgggagt																										TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:12906637_12906645delCGGAAAAGG	ENST00000380659.3	+	3	3149_3157	c.3010_3018delCGGAAAAGG	c.(3010-3018)cggaaaaggdel	p.RKR1004del		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	1004	TIR.				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	CCTCCAGCTCCGGAAAAGGCTCTGTGGGA	0.474													-	12906645	CGGAAAAGG	-	12906637	7	5	518	1	0	1	0	1	0	0	0	0	16056	643	23	0	3016	0	TLR7	23	12906637	In_Frame_Del	DEL	CGGAAAAGG	TCGA-HT-7474-01A-11D-2024-08		12906637	142363923	27	46544											
ATRX	546	broad.mit.edu	37	chrX	76855981	76855982	+	Frame_Shift_Ins	INS	-	-	A																															ttaacatctgaaaatcttggINSaaaagctttgcacctgcctt																										TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:76855981_76855982insA	ENST00000373344.5	-	23	5832_5833	c.5618_5619insT	c.(5617-5619)ttcfs	p.F1873fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F1835fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1873					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)	GAAAATCTTGGAAAAGCTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76855982	-	A	76855981	7	5	518	1	0	1	1	0	0	0	0	0	1213	1165	41	0	1911	0	ATRX	23	76855981	Frame_Shift_Ins	INS	-	TCGA-HT-7474-01A-11D-2024-08	63949344	76855981	78414579	28	46545											
GLRA4	441509	broad.mit.edu	37	chrX	102962436	102962436	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgactttcttggatgatatCttcctcctggaattacaagg	10	14	8	9	1	2	1	0	1	2	0	4	4	4	3	2	3	1	0	2	3	4	5			TCGA-HT-7474-01A-11D-2024-08	TCGA-HT-7474-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c068572-2fc4-4547-8f85-697edb9db0d0	e28a47e8-8e77-4f3f-802c-3f7709ad5da6	g.chrX:102962436C>A	ENST00000372617.4	-	9	1510	c.1090G>T	c.(1090-1092)Gat>Tat	p.D364Y		NM_001024452.2	NP_001019623.2	Q5JXX5	GLRA4_HUMAN	glycine receptor, alpha 4	364						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						TGGATGATATCTTCCTCCTGG	0.463													A	102962436	C	A	102962436	3	1	518	1	0	0	0	0	1	0	0	0	6513	913	32	4	166	4	GLRA4	23	102962436	Missense_Mutation	SNP	C	TCGA-HT-7474-01A-11D-2024-08	26106455	102962436	52308124	29	46546											
ATAD3B	83858	broad.mit.edu	37	chr1	1421533	1421533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacatcgccatagcaaccaGgaacaccaagaagaaccggg	16	2	10	13	3	0	2	0	0	0	2	1	4	0	3	4	2	4	1	4	2	6	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:1421533G>A	ENST00000308647.7	+	10	1123	c.1007G>A	c.(1006-1008)aGg>aAg	p.R336K		NM_031921.4	NP_114127.3	Q5T9A4	ATD3B_HUMAN	ATPase family, AAA domain containing 3B	336							ATP binding|nucleoside-triphosphatase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)|urinary_tract(1)	10	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		ATAGCAACCAGGAACACCAAG	0.642													A	1421533	G	A	1421533	3	1	519	1	0	0	0	0	1	0	0	0	1079	1000	35	2	1045	2	ATAD3B	1	1421533	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		1421533	247829088	1	46547											
CD1B	910	broad.mit.edu	37	chr1	158298711	158298711	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaccacccacaactcacCggcgcctcatataccataat	14	6	3	18	2	2	0	2	0	0	0	2	0	2	0	5	1	3	0	5	1	5	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:158298711C>T	ENST00000368168.3	-	5	1087	c.980G>A	c.(979-981)cGg>cAg	p.R327Q		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	327					antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					CACAACTCACCGGCGCCTCAT	0.388													T	158298711	C	T	158298711	5	4	519	1	0	0	0	0	0	0	1	0	3005	666	23	1	29	1	CD1B	1	158298711	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	156877178	158298711	90951910	2	46548											
UAP1	6675	broad.mit.edu	37	chr1	162557442	162557442	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atttcttcactgtaccatttCtgagagatgttgtcaagtat	10	17	7	7	0	4	2	2	1	2	1	4	3	4	2	1	0	1	3	1	0	3	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr1:162557442C>T	ENST00000271469.3	+	6	1314	c.1012C>T	c.(1012-1014)Ctg>Ttg	p.L338L	UAP1_ENST00000367926.4_Silent_p.L338L|UAP1_ENST00000367925.1_Silent_p.L338L|UAP1_ENST00000367924.1_Silent_p.L338L			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	338					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			TGTACCATTTCTGAGAGATGT	0.433													T	162557442	C	T	162557442	2	4	519	1	0	0	0	0	0	0	0	1	16927	912	32	2		2	UAP1	1	162557442	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08	4258731	162557442	86693179	3	46549											
IL1RL1	9173	broad.mit.edu	37	chr2	102956649	102956649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attatttgatgtattcaacaGtatctggatcagaaaaaaat	17	14	6	4	0	3	2	2	1	1	1	3	3	3	3	0	1	1	2	0	1	7	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:102956649G>A	ENST00000311734.2	+	4	703	c.364G>A	c.(364-366)Gta>Ata	p.V122I	IL1RL1_ENST00000473175.1_3'UTR|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000393393.3_Missense_Mutation_p.V122I|IL1RL1_ENST00000409584.1_Missense_Mutation_p.V122I|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V5I	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	122	Ig-like C2-type 2.				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						GTATTCAACAGTATCTGGATC	0.343													A	102956649	G	A	102956649	3	1	519	1	0	0	0	0	1	0	0	0	7721	1029	36	2	374	2	IL1RL1	2	102956649	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		102956649	140242724	4	46550											
SULT1C2	6819	broad.mit.edu	37	chr2	108921152	108921152	+	Frame_Shift_Del	DEL	A	A	-																															tttgaaaccttcatcaatggAaaaggtacgggaacatcctt																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:108921152delA	ENST00000326853.5	+	6	984	c.531delA	c.(529-531)ggafs	p.G177fs	SULT1C2_ENST00000437390.2_Frame_Shift_Del_p.G180fs|SULT1C2_ENST00000251481.6_Frame_Shift_Del_p.G166fs|SULT1C2_ENST00000409880.1_Frame_Shift_Del_p.G129fs	NM_176825.2	NP_789795.1	O00338	ST1C2_HUMAN	sulfotransferase family, cytosolic, 1C, member 2	166					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine metabolic process|sulfation|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	sulfotransferase activity			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						TCATCAATGGAAAAGGTACGG	0.473													-	108921152	A	-	108921152	7	5	519	1	0	1	0	1	0	0	0	0	15473	233	9	0	611	0	SULT1C2	2	108921152	Frame_Shift_Del	DEL	A	TCGA-HT-7475-01A-11D-2024-08	5964503	108921152	134278221	5	46551											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	519	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	100191960	209113112	34086261	6	46552											
PTH2R	5746	broad.mit.edu	37	chr2	209308141	209308141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcatgctgagagctacaaGcatctttgtcaaagacagag	13	11	9	8	0	3	3	2	1	1	3	3	4	3	3	0	0	4	3	0	0	3	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr2:209308141G>A	ENST00000272847.2	+	6	791	c.578G>A	c.(577-579)aGc>aAc	p.S193N	PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor	193						integral to plasma membrane	parathyroid hormone receptor activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		AGAGCTACAAGCATCTTTGTC	0.403													A	209308141	G	A	209308141	3	1	519	1	0	0	0	0	1	0	0	0	12846	971	34	2	600	2	PTH2R	2	209308141	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	195029	209308141	33891232	7	46553											
ART3	419	broad.mit.edu	37	chr4	77018801	77018801	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatctttgtgtttcaggactAaaaaccgaaaactgtattga	14	14	7	6	1	2	1	1	1	1	0	2	3	2	2	1	1	2	2	1	1	7	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:77018801A>G	ENST00000355810.4	+	4	905	c.786A>G	c.(784-786)ctA>ctG	p.L262L	ART3_ENST00000341029.5_Silent_p.L262L|ART3_ENST00000349321.3_Silent_p.L262L|ART3_ENST00000513494.1_3'UTR	NM_001130016.2	NP_001123488.1	Q13508	NAR3_HUMAN	ADP-ribosyltransferase 3	262					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|stomach(1)	16			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			TTTCAGGACTAAAAACCGAAA	0.323													G	77018801	A	G	77018801	2	3	519	1	0	0	0	0	0	0	0	1	1003	349	13	3		3	ART3	4	77018801	Silent	SNP	A	TCGA-HT-7475-01A-11D-2024-08		77018801	114135475	8	46554											
BMP2K	55589	broad.mit.edu	37	chr4	79793907	79793907	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctacacttcatcacttcCagctcaggttggaaccataa	11	12	5	13	0	3	0	3	0	0	0	5	1	5	1	3	2	3	2	3	2	3	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:79793907C>T	ENST00000335016.5	+	13	1914	c.1748C>T	c.(1747-1749)cCa>cTa	p.P583L	BMP2K_ENST00000502871.1_Missense_Mutation_p.P583L	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	583						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						TCATCACTTCCAGCTCAGGTT	0.448													T	79793907	C	T	79793907	3	4	519	1	0	0	0	0	1	0	0	0	1466	594	21	2	1798	2	BMP2K	4	79793907	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	2775106	79793907	111360369	9	46555											
KLKB1	3818	broad.mit.edu	37	chr4	187178500	187178500	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgtgctggctataaagaagGgggaaaagatgcttgtaagg	13	9	15	4	0	0	2	0	0	0	2	0	3	0	3	0	4	2	4	0	4	7	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr4:187178500G>A	ENST00000264690.6	+	14	1893	c.1706G>A	c.(1705-1707)gGg>gAg	p.G569E	KLKB1_ENST00000513864.1_Intron	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	569	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.G569E(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TATAAAGAAGGGGGAAAAGAT	0.323													A	187178500	G	A	187178500	3	1	519	1	0	0	0	0	1	0	0	0	8470	1232	43	2	1756	2	KLKB1	4	187178500	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	107384593	187178500	3975776	10	46556											
SRP19	6728	broad.mit.edu	37	chr5	112203073	112203073	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgtcttatttctcagattaTacactaagcctaacttctgg	11	16	5	9	0	3	1	1	0	3	1	4	1	3	1	1	1	3	0	1	1	5	7			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:112203073T>C	ENST00000282999.3	+	5	378	c.306T>C	c.(304-306)taT>taC	p.Y102Y	SRP19_ENST00000505459.1_Intron|SRP19_ENST00000515463.1_Intron|CTC-554D6.1_ENST00000520401.1_Intron|CTC-487M23.8_ENST00000512790.1_Intron|CTC-487M23.8_ENST00000506997.1_Intron			P09132	SRP19_HUMAN	signal recognition particle 19kDa	102					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|mitochondrion|nucleolus|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding			breast(1)|cervix(1)|large_intestine(1)	3		all_cancers(142;0.00328)|all_epithelial(76;6.39e-05)|Prostate(80;0.00174)|Colorectal(10;0.00372)|Ovarian(225;0.156)		Epithelial(69;1.7e-09)|OV - Ovarian serous cystadenocarcinoma(64;1.17e-08)|all cancers(49;3.96e-07)|Colorectal(14;0.0056)|COAD - Colon adenocarcinoma(37;0.0104)		TCTCAGATTATACACTAAGCC	0.308													C	112203073	T	C	112203073	2	2	519	1	0	0	0	0	0	0	0	1	15250	1421	49	3		3	SRP19	5	112203073	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08		112203073	68712187	11	46557											
EBF1	1879	broad.mit.edu	37	chr5	158140057	158140057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacgcccatcatccctgcGtggaccgaggtgttagcaag	8	9	11	13	3	2	0	2	0	0	0	3	2	3	1	3	2	2	2	3	2	2	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:158140057G>A	ENST00000313708.6	-	13	1572	c.1290C>T	c.(1288-1290)caC>caT	p.H430H	EBF1_ENST00000380654.4_Silent_p.H399H|EBF1_ENST00000517373.1_Silent_p.H422H|EBF1_ENST00000518836.1_5'UTR	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	430					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCATCCCTGCGTGGACCGAGG	0.557			T	HMGA2	lipoma								A	158140057	G	A	158140057	2	1	519	1	0	0	0	0	0	0	0	1	4919	1136	40	1		1	EBF1	5	158140057	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	45936984	158140057	22775203	12	46558											
ZNF454	285676	broad.mit.edu	37	chr5	178392212	178392221	+	Frame_Shift_Del	DEL	GAAGCCTTTT	GAAGCCTTTT	-																															cagaaaattcatactggagaGaagccttttgaatgcaactt																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr5:178392212_178392221delGAAGCCTTTT	ENST00000320129.3	+	5	1110_1119	c.807_816delGAAGCCTTTT	c.(805-816)gagaagccttttfs	p.EKPF269fs	ZNF454_ENST00000519564.1_Frame_Shift_Del_p.EKPF269fs	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	269					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		ATACTGGAGAGAAGCCTTTTGAATGCAACT	0.395													-	178392221	GAAGCCTTTT	-	178392212	7	5	519	1	0	1	0	1	0	0	0	0	18024	933	33	0	821	0	ZNF454	5	178392212	Frame_Shift_Del	DEL	GAAGCCTTTT	TCGA-HT-7475-01A-11D-2024-08	20252155	178392212	2523048	13	46559											
C2	717	broad.mit.edu	37	chr6	31902169	31902169	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcagaaccccactcacagcCcacctcctccaagaagtctt	11	7	4	19	0	3	2	2	0	1	2	5	2	5	2	6	0	2	0	6	0	3	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:31902169C>A	ENST00000418949.2	+	6	992	c.942C>A	c.(940-942)gcC>gcA	p.A314A	CFB_ENST00000556679.1_Intron|C2_ENST00000299367.5_Intron|C2_ENST00000452323.2_Intron|C2_ENST00000442278.2_Intron|C2_ENST00000469372.1_Intron|CFB_ENST00000456570.1_Intron|CFB_ENST00000477310.1_Intron	NM_001282459.1	NP_001269388.1			complement component 2											haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)|skin(2)|urinary_tract(2)	27		Ovarian(999;0.00965)		LUAD - Lung adenocarcinoma(999;0.247)		CACTCACAGCCCACCTCCTCC	0.473													A	31902169	C	A	31902169	2	1	519	1	0	0	0	0	0	0	0	1	2095	638	22	4		4	C2	6	31902169	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		31902169	139212898	14	46560											
CFB	629	broad.mit.edu	37	chr6	31911098	31911098	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggcatgtcactattaaggTaccaggaaggaggggcaggg	11	7	16	7	0	1	0	1	0	0	0	1	2	1	2	1	7	1	3	1	7	4	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:31911098T>C	ENST00000556679.1	+	8	1051		c.e8+2		C2_ENST00000299367.5_Splice_Site|C2_ENST00000452323.2_Splice_Site|C2_ENST00000442278.2_Splice_Site|C2_ENST00000469372.1_Splice_Site|CFB_ENST00000456570.1_Splice_Site|CFB_ENST00000477310.1_Splice_Site			P00751	CFAB_HUMAN	complement factor B						complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						ACTATTAAGGTACCAGGAAGG	0.552													C	31911098	T	C	31911098	5	2	519	1	0	0	0	0	0	0	1	0	3308	1652	57	3		3	CFB	6	31911098	Splice_Site	SNP	T	TCGA-HT-7475-01A-11D-2024-08	8929	31911098	139203969	15	46561											
FANCE	2178	broad.mit.edu	37	chr6	35423550	35423550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgttgctgcgattgccccGgatatgccagaggaacctga	9	9	12	11	2	0	2	0	1	0	1	0	5	0	4	4	2	5	2	4	2	2	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr6:35423550G>A	ENST00000229769.2	+	2	460	c.275G>A	c.(274-276)cGg>cAg	p.R92Q		NM_021922.2	NP_068741.1	Q9HB96	FANCE_HUMAN	Fanconi anemia, complementation group E	92					DNA repair	nucleoplasm	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)|skin(2)	13						CGATTGCCCCGGATATGCCAG	0.592			"N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	35423550	G	A	35423550	3	1	519	1	0	0	0	0	1	0	0	0	5715	1116	39	1	281	1	FANCE	6	35423550	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	3512452	35423550	135691517	16	46562											
AKAP9	10142	broad.mit.edu	37	chr7	91736724	91736724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatattaggtcccctttacCatttcagaataggtaagaat	13	14	6	8	0	1	2	1	0	0	2	2	2	2	2	3	2	1	1	3	2	8	8			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:91736724C>T	ENST00000359028.2	+	48	11771	c.11546C>T	c.(11545-11547)cCa>cTa	p.P3849L	AKAP9_ENST00000358100.2_Missense_Mutation_p.P3795L|AKAP9_ENST00000356239.3_Missense_Mutation_p.P3845L			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3849					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TCCCCTTTACCATTTCAGAAT	0.353			T	BRAF	papillary thyroid								T	91736724	C	T	91736724	3	4	519	1	0	0	0	0	1	0	0	0	459	594	21	2	11724	2	AKAP9	7	91736724	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		91736724	67401939	17	46563											
PIK3CG	5294	broad.mit.edu	37	chr7	106508596	106508596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcgaccccaagctctacgCcatgcacccgtgggtgacgt	7	6	11	17	5	1	1	0	1	1	0	1	2	1	1	5	1	3	2	5	1	2	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106508596C>T	ENST00000359195.3	+	2	900	c.590C>T	c.(589-591)gCc>gTc	p.A197V	PIK3CG_ENST00000440650.2_Missense_Mutation_p.A197V|PIK3CG_ENST00000496166.1_Missense_Mutation_p.A197V	NM_001282427.1|NM_002649.2	NP_001269356.1|NP_002640.2	P48736	PK3CG_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma	197					G-protein coupled receptor protein signaling pathway|phosphatidylinositol-mediated signaling|platelet activation	phosphatidylinositol 3-kinase complex	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			breast(7)|central_nervous_system(9)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(16)|liver(4)|lung(59)|ovary(4)|pancreas(4)|prostate(3)|skin(6)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	132						AAGCTCTACGCCATGCACCCG	0.632													T	106508596	C	T	106508596	3	4	519	1	0	0	0	0	1	0	0	0	11993	739	26	2	592	2	PIK3CG	7	106508596	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	14771872	106508596	52630067	18	46564											
COG5	10466	broad.mit.edu	37	chr7	106938740	106938740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccataagtcattataaagaCgtaataatttagggtattct	15	15	6	5	1	2	1	1	0	1	1	3	1	3	1	1	1	0	2	1	1	8	9	rs35258567	byFrequency	TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr7:106938740C>T	ENST00000393603.2	-	12	1524	c.1253G>A	c.(1252-1254)cGt>cAt	p.R418H	COG5_ENST00000297135.3_Missense_Mutation_p.R418H|COG5_ENST00000347053.3_Missense_Mutation_p.R418H	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5	418					intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						ATTATAAAGACGTAATAATTT	0.343													T	106938740	C	T	106938740	3	4	519	1	0	0	0	0	1	0	0	0	3692	536	19	1	1377	1	COG5	7	106938740	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	430144	106938740	52199923	19	46565											
FGF20	26281	broad.mit.edu	37	chr8	16850596	16850596	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacttcaagtgtacatcagTaggtccttgtacaattctgg	10	13	9	9	0	3	0	2	0	1	0	4	0	4	0	1	2	2	4	1	2	5	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:16850596T>C	ENST00000180166.5	-	3	769	c.621A>G	c.(619-621)ctA>ctG	p.L207L		NM_019851.2	NP_062825.1	Q9NP95	FGF20_HUMAN	fibroblast growth factor 20	207					cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway	extracellular region|soluble fraction	growth factor activity			haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)	11				Colorectal(111;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		TGTACATCAGTAGGTCCTTGT	0.423													C	16850596	T	C	16850596	2	2	519	1	0	0	0	0	0	0	0	1	5898	1625	57	3		3	FGF20	8	16850596	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08		16850596	129513426	20	46566											
TMEM66	51669	broad.mit.edu	37	chr8	29923548	29923548	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgagtttgaacataccgaaTagctgcccgagcctccatga	11	9	9	12	2	0	3	0	3	0	0	1	5	1	3	4	0	5	2	4	0	4	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:29923548T>C	ENST00000256255.6	-	5	1207	c.950A>G	c.(949-951)tAt>tGt	p.Y317C	TMEM66_ENST00000545648.1_Missense_Mutation_p.Y145C|TMEM66_ENST00000536273.1_Missense_Mutation_p.Y145C	NM_016127.4	NP_057211.4	Q96BY9	TMM66_HUMAN	transmembrane protein 66	317						integral to membrane				endometrium(2)|large_intestine(1)|lung(11)	14				KIRC - Kidney renal clear cell carcinoma(542;0.0993)|Kidney(114;0.119)		ACATACCGAATAGCTGCCCGA	0.473													C	29923548	T	C	29923548	3	2	519	1	0	0	0	0	1	0	0	0	16295	1406	49	3	77	3	TMEM66	8	29923548	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	13072952	29923548	116440474	21	46567											
ZMAT4	79698	broad.mit.edu	37	chr8	40532420	40532420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccggagcagtgtccatcCgtgggggcttaagtgggctc	6	8	15	12	2	0	0	0	0	0	0	3	1	2	1	4	4	1	3	4	4	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:40532420C>T	ENST00000297737.6	-	5	526	c.380G>A	c.(379-381)cGg>cAg	p.R127Q	ZMAT4_ENST00000315769.7_Intron	NM_024645.2	NP_078921.1	Q9H898	ZMAT4_HUMAN	zinc finger, matrin-type 4	127						nucleus	DNA binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18	Ovarian(28;0.00724)|Colorectal(14;0.0468)	all_cancers(7;0.00936)|all_epithelial(6;3.53e-06)|all_lung(54;0.0318)|Lung NSC(58;0.0919)|Esophageal squamous(32;0.15)|Hepatocellular(245;0.152)	LUSC - Lung squamous cell carcinoma(45;0.00722)			AGTGTCCATCCGTGGGGGCTT	0.527													T	40532420	C	T	40532420	3	4	519	1	0	0	0	0	1	0	0	0	17795	652	23	1	321	1	ZMAT4	8	40532420	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	10608872	40532420	105831602	22	46568											
PKHD1L1	93035	broad.mit.edu	37	chr8	110493686	110493686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtagattaatcggtggctggGaagataacccttttaaagga	13	11	12	5	1	0	2	0	0	0	2	1	4	0	4	1	4	1	2	1	4	6	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:110493686G>A	ENST00000378402.5	+	56	9456	c.9352G>A	c.(9352-9354)Gaa>Aaa	p.E3118K		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3118	G8 2.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			CGGTGGCTGGGAAGATAACCC	0.378										HNSCC(38;0.096)			A	110493686	G	A	110493686	3	1	519	1	0	0	0	0	1	0	0	0	12049	1175	41	2	9574	2	PKHD1L1	8	110493686	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	69961266	110493686	35870336	23	46569											
COL22A1	169044	broad.mit.edu	37	chr8	139791795	139791795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gccccggctctcccagctctCctggctccccctgaacaaac	6	7	7	21	1	2	1	0	1	2	0	5	1	3	1	6	2	3	3	6	2	2	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr8:139791795C>T	ENST00000303045.6	-	14	2107	c.1661G>A	c.(1660-1662)gGa>gAa	p.G554E	COL22A1_ENST00000435777.1_Missense_Mutation_p.G554E	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	554	Collagen-like 2.|Gly-rich.|Pro-rich.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCCAGCTCTCCTGGCTCCCC	0.622										HNSCC(7;0.00092)			T	139791795	C	T	139791795	3	4	519	1	0	0	0	0	1	0	0	0	3712	855	30	2	3427	2	COL22A1	8	139791795	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	29298109	139791795	6572227	24	46570											
DUPD1	338599	broad.mit.edu	37	chr10	76803657	76803657	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccacgccgtggtactGgatgtccatgtcgcggtagt	5	10	14	12	4	0	0	0	0	0	0	3	1	2	1	4	4	1	2	4	4	2	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:76803657G>A	ENST00000338487.5	-	2	318	c.319C>T	c.(319-321)Cag>Tag	p.Q107*		NM_001003892.1	NP_001003892.1	Q68J44	DUPD1_HUMAN	dual specificity phosphatase and pro isomerase domain containing 1	107	Tyrosine-protein phosphatase.					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(2)|lung(5)|ovary(2)|urinary_tract(1)	11	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCGTGGTACTGGATGTCCATG	0.642													A	76803657	G	A	76803657	4	1	519	1	0	0	0	0	0	1	0	0	4843	1357	47	2	351	2	DUPD1	10	76803657	Nonsense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		76803657	58731090	25	46571											
HPS6	79803	broad.mit.edu	37	chr10	103826085	103826085	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcctgctgttgcttgactTcgggggcactgtgagcctat	4	12	15	10	1	0	2	0	2	0	0	1	2	0	2	2	3	3	4	2	3	1	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr10:103826085T>G	ENST00000299238.5	+	1	939	c.854T>G	c.(853-855)tTc>tGc	p.F285C		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	285						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		TTGCTTGACTTCGGGGGCACT	0.682									Hermansky-Pudlak syndrome				G	103826085	T	G	103826085	3	3	519	1	0	0	0	0	1	0	0	0	7398	1783	62	5	856	5	HPS6	10	103826085	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	27022428	103826085	31708662	26	46572											
PHF21A	51317	broad.mit.edu	37	chr11	45959824	45959824	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacatcagtaactggccacTttttctgcaaacgctgcaaa	12	10	7	12	1	2	0	1	0	1	0	2	0	2	0	1	1	4	5	1	1	3	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:45959824T>C	ENST00000257821.4	-	15	2115	c.1492A>G	c.(1492-1494)Agt>Ggt	p.S498G	PHF21A_ENST00000418153.2_Missense_Mutation_p.S497G|PHF21A_ENST00000323180.6_Missense_Mutation_p.S451G|PHF21A_ENST00000527753.1_5'UTR	NM_001101802.1	NP_001095272.1	Q96BD5	PF21A_HUMAN	PHD finger protein 21A	497	Required for transcriptional repression.				blood coagulation|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(10)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	29						AACTGGCCACTTTTTCTGCAA	0.403													C	45959824	T	C	45959824	3	2	519	1	0	0	0	0	1	0	0	0	11910	1609	56	3	569	3	PHF21A	11	45959824	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08		45959824	89046692	27	46573											
OR5M3	219482	broad.mit.edu	37	chr11	56237959	56237959	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaatgaactctgtcacatcGgtgaaattgagcattttctg	12	13	9	7	1	3	4	1	3	2	1	4	4	3	4	0	1	2	1	0	1	3	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:56237959G>A	ENST00000312240.2	-	1	55	c.15C>T	c.(13-15)acC>acT	p.T5T		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					CTGTCACATCGGTGAAATTGA	0.328													A	56237959	G	A	56237959	2	1	519	1	0	0	0	0	0	0	0	1	11251	1103	39	1		1	OR5M3	11	56237959	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	10278135	56237959	78768557	28	46574											
OR4D6	219983	broad.mit.edu	37	chr11	59224535	59224535	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtggtcttctttgctgtGtatgtagcaacagtcctggg	5	17	12	7	0	2	0	0	0	2	0	3	0	3	0	1	2	3	4	1	2	3	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:59224535G>T	ENST00000300127.2	+	1	125	c.102G>T	c.(100-102)gtG>gtT	p.V34V		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	34					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TCTTTGCTGTGTATGTAGCAA	0.458													T	59224535	G	T	59224535	2	4	519	1	0	0	0	0	0	0	0	1	11134	1364	48	4		4	OR4D6	11	59224535	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	2986576	59224535	75781981	29	46575											
USP35	57558	broad.mit.edu	37	chr11	77916930	77916930	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accgcatcaagcagctgctgGggcaggatgcctggacttcg	8	7	14	12	2	1	0	1	0	0	0	2	2	1	2	2	4	4	5	2	4	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr11:77916930G>A	ENST00000529308.1	+	7	1501	c.1240G>A	c.(1240-1242)Ggg>Agg	p.G414R	USP35_ENST00000530267.1_5'UTR|USP35_ENST00000530535.1_Intron|USP35_ENST00000526425.1_Missense_Mutation_p.G145R|USP35_ENST00000441408.2_5'UTR	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	414					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			GCAGCTGCTGGGGCAGGATGC	0.587													A	77916930	G	A	77916930	3	1	519	1	0	0	0	0	1	0	0	0	17168	1232	43	2	1262	2	USP35	11	77916930	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	18692395	77916930	57089586	30	46576											
TNFRSF1A	7132	broad.mit.edu	37	chr12	6438610	6438610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcgtggcctcgcgccgCggcgtgcgccgcctccaggt	2	6	15	18	8	0	0	0	0	0	0	3	0	2	0	6	3	2	0	6	3	0	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:6438610C>T	ENST00000162749.2	-	10	1535	c.1236G>A	c.(1234-1236)ccG>ccA	p.P412P	TNFRSF1A_ENST00000540022.1_Silent_p.P369P	NM_001065.3	NP_001056.1	P19438	TNR1A_HUMAN	tumor necrosis factor receptor superfamily, member 1A	412	Death.			Missing (in Ref. 5; AAA36756).	apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|inflammatory response|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of inflammatory response|positive regulation of transcription from RNA polymerase II promoter|prostaglandin metabolic process	extracellular region|integral to plasma membrane|membrane raft	tumor necrosis factor receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	19						CCTCGCGCCGCGGCGTGCGCC	0.721													T	6438610	C	T	6438610	2	4	519	1	0	0	0	0	0	0	0	1	16393	755	27	1		1	TNFRSF1A	12	6438610	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		6438610	127413285	31	46577											
LRP1	4035	broad.mit.edu	37	chr12	57547993	57547993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcattcgtactctccagacGtggaacagatggccatcgac	10	10	9	12	3	2	2	1	0	1	2	5	4	2	3	2	2	2	1	2	2	2	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr12:57547993G>A	ENST00000243077.3	+	7	1310	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	LRP1_ENST00000554174.1_Missense_Mutation_p.V282M	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	282					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTCTCCAGACGTGGAACAGAT	0.527													A	57547993	G	A	57547993	3	1	519	1	0	0	0	0	1	0	0	0	9021	1145	40	1	870	1	LRP1	12	57547993	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08	51109383	57547993	76303902	32	46578											
SMOC1	64093	broad.mit.edu	37	chr14	70442501	70442502	+	Frame_Shift_Del	DEL	TC	TC	-																															ggaagcccatcagtggctctTctgtgcagaataaaactcct																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:70442501_70442502delTC	ENST00000381280.4	+	4	701_702	c.448_449delTC	c.(448-450)tctfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		CAGTGGCTCTTCTGTGCAGAAT	0.525													-	70442502	TC	-	70442501	7	5	519	1	0	1	0	1	0	0	0	0	14895	1783	62	0	462	0	SMOC1	14	70442501	Frame_Shift_Del	DEL	TC	TCGA-HT-7475-01A-11D-2024-08		70442501	36907039	33	46579											
AHNAK2	113146	broad.mit.edu	37	chr14	105409595	105409595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tatctgggggcccttgaggtCcactttgggcatcttgaaac	7	12	12	10	0	2	2	0	2	2	0	3	2	3	2	2	4	1	1	2	4	2	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr14:105409595C>T	ENST00000333244.5	-	7	12312	c.12193G>A	c.(12193-12195)Gac>Aac	p.D4065N	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	4065						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTTGAGGTCCACTTTGGGC	0.602													T	105409595	C	T	105409595	3	4	519	1	0	0	0	0	1	0	0	0	415	855	30	2	5198	2	AHNAK2	14	105409595	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	34967094	105409595	1939945	34	46580											
SCNN1B	6338	broad.mit.edu	37	chr16	23382718	23382718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcacgagcagaggtcatacCccttcatcagagatgagggc	11	8	11	11	1	4	3	4	1	0	2	4	5	4	3	2	2	2	1	2	2	1	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr16:23382718C>T	ENST00000343070.2	+	6	1155	c.979C>T	c.(979-981)Ccc>Tcc	p.P327S	SCNN1B_ENST00000568085.1_Missense_Mutation_p.P327S|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P300S|SCNN1B_ENST00000307331.5_Missense_Mutation_p.P372S	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	327					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GAGGTCATACCCCTTCATCAG	0.602													T	23382718	C	T	23382718	3	4	519	1	0	0	0	0	1	0	0	0	14021	623	22	2	997	2	SCNN1B	16	23382718	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08		23382718	66972035	35	46581											
EIF4A1	1973	broad.mit.edu	37	chr17	7477923	7477923	+	Frame_Shift_Del	DEL	C	C	-																															aacctctcggagtcccttctCcgtggcatctacgcgtatgg																										TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7477923delC	ENST00000293831.8	+	3	148	c.132delC	c.(130-132)ctcfs	p.L44fs	EIF4A1_ENST00000582746.1_Frame_Shift_Del_p.L44fs|EIF4A1_ENST00000577269.1_Frame_Shift_Del_p.L44fs|SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000380512.5_Frame_Shift_Del_p.L28fs	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	44					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						AGTCCCTTCTCCGTGGCATCT	0.478													-	7477923	C	-	7477923	7	5	519	1	0	1	0	1	0	0	0	0	5065	842	30	0	142	0	EIF4A1	17	7477923	Frame_Shift_Del	DEL	C	TCGA-HT-7475-01A-11D-2024-08		7477923	73717287	36	46582											
TP53	7157	broad.mit.edu	37	chr17	7578226	7578226	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcgaaaagtgtttctgTcatccaaatactccacacgc	12	12	6	11	2	2	0	1	0	1	0	5	1	4	0	2	0	1	1	2	0	5	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7578226T>C	ENST00000420246.2	-	6	755	c.623A>G	c.(622-624)gAc>gGc	p.D208G	TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D208G|TP53_ENST00000413465.2_Missense_Mutation_p.D208G|TP53_ENST00000455263.2_Missense_Mutation_p.D208G|TP53_ENST00000445888.2_Missense_Mutation_p.D208G|TP53_ENST00000269305.4_Missense_Mutation_p.D208G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	208	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		D -> E (in sporadic cancers; somatic mutation).|D -> G (in sporadic cancers; somatic mutation).|D -> H (in a sporadic cancer; somatic mutation).|D -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> N (in sporadic cancers; somatic mutation).|D -> V (in sporadic cancers; somatic mutation).|D -> Y (in a sporadic cancer; somatic mutation).|DD -> EY (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.D208V(14)|p.0?(8)|p.?(5)|p.D208G(3)|p.D207fs*6(2)|p.D208fs*1(1)|p.D207_R213delDDRNTFR(1)|p.D208fs*39(1)|p.D208fs*38(1)|p.D207_V216del10(1)|p.D208I(1)|p.E204_N210delEYLDDRN(1)|p.D208_V216delDRNTFRHSV(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)		AGTGTTTCTGTCATCCAAATA	0.532		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)			C	7578226	T	C	7578226	3	2	519	1	0	0	0	0	1	0	0	0	16482	1667	58	3	671	3	TP53	17	7578226	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	100303	7578226	73616984	37	46583											
TP53	7157	broad.mit.edu	37	chr17	7579358	7579358	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatgcaagaagcccagaCggaaaccgtagctgccctgg	13	4	12	12	2	0	3	0	0	0	3	0	4	0	4	3	2	5	3	3	2	5	1	rs11540654		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:7579358C>G	ENST00000420246.2	-	4	461	c.329G>C	c.(328-330)cGt>cCt	p.R110P	TP53_ENST00000359597.4_Missense_Mutation_p.R110P|TP53_ENST00000413465.2_Missense_Mutation_p.R110P|TP53_ENST00000455263.2_Missense_Mutation_p.R110P|TP53_ENST00000445888.2_Missense_Mutation_p.R110P|TP53_ENST00000269305.4_Missense_Mutation_p.R110P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	110	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in a sporadic cancer; somatic mutation).|R -> H (in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation; dbSNP:rs11540654).|R -> S (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.R110L(36)|p.R110P(9)|p.0?(8)|p.G59fs*23(3)|p.R110fs*13(2)|p.F109_R110delFR(2)|p.R110H(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.R110fs*39(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GAAGCCCAGACGGAAACCGTA	0.612		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)			G	7579358	C	G	7579358	3	3	519	1	0	0	0	0	1	0	0	0	16482	536	19	4	973	4	TP53	17	7579358	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	1132	7579358	73615852	38	46584											
EZH1	2145	broad.mit.edu	37	chr17	40869993	40869993	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaacagcttaagaacataCcagcaaaaggaagcagtctg	18	5	9	9	0	1	2	0	0	1	2	1	3	1	3	1	1	6	3	1	1	7	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:40869993C>A	ENST00000428826.2	-	10	1145		c.e10+1		EZH1_ENST00000585893.1_Splice_Site|EZH1_ENST00000415827.2_Splice_Site|EZH1_ENST00000435174.1_Splice_Site|EZH1_ENST00000590078.1_Splice_Site|EZH1_ENST00000592743.1_Splice_Site			Q92800	EZH1_HUMAN	enhancer of zeste homolog 1 (Drosophila)						anatomical structure morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex	chromatin binding|DNA binding			breast(1)|endometrium(4)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	27		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0784)		TAAGAACATACCAGCAAAAGG	0.413													A	40869993	C	A	40869993	5	1	519	1	0	0	0	0	0	0	1	0	5375	521	18	4	1267	4	EZH1	17	40869993	Splice_Site	SNP	C	TCGA-HT-7475-01A-11D-2024-08	33290635	40869993	40325217	39	46585											
MPO	4353	broad.mit.edu	37	chr17	56357985	56357985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggagcagcaccttcagaGggctggggcgtggccagaat	8	6	16	11	1	1	2	1	0	0	2	1	3	1	3	3	5	2	3	3	5	1	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:56357985G>A	ENST00000340482.3	-	1	311	c.135C>T	c.(133-135)ccC>ccT	p.P45P	MPO_ENST00000225275.3_Silent_p.P45P			P05164	PERM_HUMAN	myeloperoxidase	45					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	CACCTTCAGAGGGCTGGGGCG	0.597													A	56357985	G	A	56357985	2	1	519	1	0	0	0	0	0	0	0	1	9808	987	35	2		2	MPO	17	56357985	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08	15487992	56357985	24837225	40	46586											
CD300LB	124599	broad.mit.edu	37	chr17	72518906	72518906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catgtctttagtcagaggttCggagaagttcatgtagatag	11	13	12	5	1	3	3	2	0	1	3	4	4	3	3	0	2	0	3	0	2	4	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr17:72518906C>T	ENST00000392621.1	-	4	692	c.688G>A	c.(688-690)Gaa>Aaa	p.E230K		NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	193						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						GTCAGAGGTTCGGAGAAGTTC	0.547													T	72518906	C	T	72518906	3	4	519	1	0	0	0	0	1	0	0	0	3029	893	31	1	32	1	CD300LB	17	72518906	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	16160921	72518906	8676304	41	46587											
PTPRM	5797	broad.mit.edu	37	chr18	7949178	7949178	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccccaccccacttgatacaGggcattgatgtgcgagatgc	9	9	10	13	1	0	3	0	2	0	1	1	4	1	3	4	1	3	1	4	1	1	3			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:7949178G>A	ENST00000332175.8	+	6	1700		c.e6-1		PTPRM_ENST00000400053.4_Splice_Site|PTPRM_ENST00000444013.1_Splice_Site|PTPRM_ENST00000400060.4_Splice_Site|PTPRM_ENST00000580170.1_Splice_Site	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M						homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				ACTTGATACAGGGCATTGATG	0.448													A	7949178	G	A	7949178	5	1	519	1	0	0	0	0	0	0	1	0	12894	1014	35	2	685	2	PTPRM	18	7949178	Splice_Site	SNP	G	TCGA-HT-7475-01A-11D-2024-08		7949178	70128070	42	46588											
DSG1	1828	broad.mit.edu	37	chr18	28911710	28911710	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgacgcagatgaaccgaaCaatttgaactcaaaaatagc	18	7	7	9	2	1	4	1	3	0	1	1	5	1	4	1	0	4	1	1	0	7	2			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:28911710C>A	ENST00000257192.4	+	6	776	c.564C>A	c.(562-564)aaC>aaA	p.N188K		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	188	Cadherin 2.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			ATGAACCGAACAATTTGAACT	0.333													A	28911710	C	A	28911710	3	1	519	1	0	0	0	0	1	0	0	0	4815	477	17	4	586	4	DSG1	18	28911710	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	20962532	28911710	49165538	43	46589											
NOL4	8715	broad.mit.edu	37	chr18	31709958	31709958	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagctacccgtcgtaaagaTagcttctcatctacccctac	11	10	5	15	2	2	1	1	0	2	1	4	1	2	1	3	0	5	3	3	0	6	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr18:31709958T>C	ENST00000261592.5	-	2	588	c.291A>G	c.(289-291)ctA>ctG	p.L97L	NOL4_ENST00000538587.1_Silent_p.L23L|NOL4_ENST00000535475.1_5'UTR|NOL4_ENST00000269185.4_5'UTR|NOL4_ENST00000589544.1_Silent_p.L97L	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	97						nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GTCGTAAAGATAGCTTCTCAT	0.373													C	31709958	T	C	31709958	2	2	519	1	0	0	0	0	0	0	0	1	10600	1393	49	3		3	NOL4	18	31709958	Silent	SNP	T	TCGA-HT-7475-01A-11D-2024-08	2798248	31709958	46367290	44	46590											
PIK3R2	5296	broad.mit.edu	37	chr19	18272833	18272833	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaagctgcttcaggaacaCttggaagagcaggaggttgc	12	7	15	7	0	1	2	1	0	0	2	1	6	1	5	0	4	5	4	0	4	3	3	rs68016487		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:18272833C>T	ENST00000593731.1	+	7	1433	c.873C>T	c.(871-873)caC>caT	p.H291H	PIK3R2_ENST00000222254.8_Silent_p.H291H			O00459	P85B_HUMAN	phosphoinositide-3-kinase, regulatory subunit 2 (beta)	291	Rho-GAP.				fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|negative regulation of anti-apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|T cell costimulation|T cell receptor signaling pathway	phosphatidylinositol 3-kinase complex	GTPase activator activity|phosphatidylinositol 3-kinase regulator activity|protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(3)|pancreas(1)|stomach(1)	24						TTCAGGAACACTTGGAAGAGC	0.612													T	18272833	C	T	18272833	2	4	519	1	0	0	0	0	0	0	0	1	11996	564	20	2		2	PIK3R2	19	18272833	Silent	SNP	C	TCGA-HT-7475-01A-11D-2024-08		18272833	40856150	45	46591											
ZNF506	440515	broad.mit.edu	37	chr19	19905656	19905656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtaccaggtaaaggttttgCcacattcgtcacatttgtag	11	13	9	8	1	1	0	1	0	0	0	2	0	1	0	2	2	2	4	2	2	4	7			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:19905656C>T	ENST00000443905.2	-	4	1187	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	CTC-559E9.4_ENST00000590274.1_lincRNA|ZNF506_ENST00000450683.2_Missense_Mutation_p.G315D|ZNF506_ENST00000587461.1_Intron|ZNF506_ENST00000540806.2_Missense_Mutation_p.G347D|CTC-559E9.6_ENST00000591884.1_RNA|CTC-559E9.6_ENST00000589657.1_RNA			Q5JVG8	ZN506_HUMAN	zinc finger protein 506	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(7)|lung(3)|skin(1)|stomach(1)	14						AAAGGTTTTGCCACATTCGTC	0.408													T	19905656	C	T	19905656	3	4	519	1	0	0	0	0	1	0	0	0	18053	739	26	2	298	2	ZNF506	19	19905656	Missense_Mutation	SNP	C	TCGA-HT-7475-01A-11D-2024-08	1632823	19905656	39223327	46	46592											
ZNF567	163081	broad.mit.edu	37	chr19	37203719	37203719	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgatgtgatcctcaagtTggaacgaggagaagagccat	13	8	12	8	1	1	4	1	2	0	2	2	7	2	5	3	2	2	1	3	2	3	1			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:37203719T>G	ENST00000585696.1	+	2	1310	c.80T>G	c.(79-81)tTg>tGg	p.L27W	ZNF567_ENST00000588311.1_Missense_Mutation_p.L27W|ZNF567_ENST00000536254.2_Missense_Mutation_p.L58W|ZNF567_ENST00000392163.2_Missense_Mutation_p.L27W|ZNF567_ENST00000360729.4_Missense_Mutation_p.L27W			Q8N184	ZN567_HUMAN	zinc finger protein 567	58	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	Esophageal squamous(110;0.198)		COAD - Colon adenocarcinoma(19;0.0454)|Colorectal(19;0.065)			ATCCTCAAGTTGGAACGAGGA	0.423													G	37203719	T	G	37203719	3	3	519	1	0	0	0	0	1	0	0	0	18099	1821	63	5	86	5	ZNF567	19	37203719	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	17298063	37203719	21925264	47	46593											
ZNF600	162966	broad.mit.edu	37	chr19	53269430	53269430	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgcactcattacactTgtaaggtttctcaccactat	9	15	5	12	0	2	0	2	0	1	0	3	0	2	0	1	1	3	4	1	1	3	6			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr19:53269430T>C	ENST00000338230.3	-	3	1846	c.1579A>G	c.(1579-1581)Aag>Gag	p.K527E		NM_198457.2	NP_940859	Q6ZNG1	ZN600_HUMAN	zinc finger protein 600	527					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(4)|large_intestine(9)|liver(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(262;0.0241)|GBM - Glioblastoma multiforme(134;0.0404)		TCATTACACTTGTAAGGTTTC	0.453													C	53269430	T	C	53269430	3	2	519	1	0	0	0	0	1	0	0	0	18131	1821	63	3	593	3	ZNF600	19	53269430	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	16065711	53269430	5859553	48	46594											
MACROD2	140733	broad.mit.edu	37	chr20	15843442	15843442	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttgacttcaaaatctacaAaaagaaaatgaatgagtttt	19	12	6	4	0	2	4	1	3	1	1	2	4	2	4	0	0	1	2	0	0	8	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr20:15843442A>T	ENST00000217246.4	+	9	1093	c.698A>T	c.(697-699)aAa>aTa	p.K233I	MACROD2_ENST00000402914.1_5'UTR|MACROD2_ENST00000310348.4_Missense_Mutation_p.K233I	NM_080676.5	NP_542407.2	A1Z1Q3	MACD2_HUMAN	MACRO domain containing 2	233	Macro.									breast(2)|kidney(4)|large_intestine(5)|lung(8)|skin(1)	20		all_neural(2;0.0381)|Acute lymphoblastic leukemia(2;0.175)				AAAATCTACAAAAAGAAAATG	0.348													T	15843442	A	T	15843442	3	4	519	1	0	0	0	0	1	0	0	0	9217	14	1	5	732	5	MACROD2	20	15843442	Missense_Mutation	SNP	A	TCGA-HT-7475-01A-11D-2024-08		15843442	47182078	49	46595											
TPTE	7179	broad.mit.edu	37	chr21	10970032	10970032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcgcaggtgcctcctcGgttgctcctttaaattcact	5	16	7	13	2	2	0	1	0	1	0	6	0	4	0	3	2	2	3	3	2	2	5	rs147186596		TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr21:10970032G>A	ENST00000298232.7	-	6	463	c.96C>T	c.(94-96)acC>acT	p.T32T	TPTE_ENST00000361285.4_Silent_p.T32T|TPTE_ENST00000342420.5_Silent_p.T32T|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	32					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.T32T(2)|p.E33fs*10(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGCCTCCTCGGTTGCTCCTT	0.398													A	10970032	G	A	10970032	2	1	519	1	0	0	0	0	0	0	0	1	16531	1103	39	1		1	TPTE	21	10970032	Silent	SNP	G	TCGA-HT-7475-01A-11D-2024-08		10970032	37159863	50	46596											
CECR1	51816	broad.mit.edu	37	chr22	17684592	17684592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagatggtttcaaatttcGaccagacaacattttggttt	13	14	8	6	1	1	3	1	0	0	3	2	4	1	3	1	2	1	2	1	2	3	5			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chr22:17684592G>A	ENST00000399839.1	-	4	884	c.614C>T	c.(613-615)tCg>tTg	p.S205L	CECR1_ENST00000449907.2_Missense_Mutation_p.S163L|CECR1_ENST00000399837.2_Missense_Mutation_p.S205L|CECR1_ENST00000262607.3_Missense_Mutation_p.S205L	NM_001282227.1|NM_001282228.1	NP_001269156.1|NP_001269157.1	Q9NZK5	CECR1_HUMAN	cat eye syndrome chromosome region, candidate 1	205	Substrate binding.				adenosine catabolic process|hypoxanthine salvage|inosine biosynthetic process|multicellular organismal development|purine ribonucleoside monophosphate biosynthetic process	extracellular space|Golgi apparatus	adenosine deaminase activity|adenosine receptor binding|growth factor activity|heparin binding|protein homodimerization activity|proteoglycan binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|liver(1)|lung(10)|ovary(2)|prostate(2)|stomach(1)	25		all_epithelial(15;0.0152)|Lung NSC(13;0.0875)|all_lung(157;0.106)				TTCAAATTTCGACCAGACAAC	0.493													A	17684592	G	A	17684592	3	1	519	1	0	0	0	0	1	0	0	0	3235	1059	37	1	983	1	CECR1	22	17684592	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		17684592	33619974	51	46597											
USP11	8237	broad.mit.edu	37	chrX	47092455	47092455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacggcgatggcgacggtcGcagcaaatccagctgctgct	8	6	15	12	5	0	0	0	0	0	0	2	3	1	1	1	4	4	5	1	4	1	0			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:47092455G>A	ENST00000377107.2	+	1	367	c.13G>A	c.(13-15)Gca>Aca	p.A5T	USP11_ENST00000218348.3_Missense_Mutation_p.A48T			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	48					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						ggcgacggtcgcagcaaatcc	0.642													A	47092455	G	A	47092455	3	1	519	1	0	0	0	0	1	0	0	0	17144	1087	38	1	144	1	USP11	23	47092455	Missense_Mutation	SNP	G	TCGA-HT-7475-01A-11D-2024-08		47092455	108178105	52	46598											
ATRX	546	broad.mit.edu	37	chrX	76813076	76813076	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcgaaaagacagtgactgcTtagttacttgccgatcataa	13	11	8	9	2	1	2	1	1	0	1	2	4	1	2	1	0	3	2	1	0	5	4			TCGA-HT-7475-01A-11D-2024-08	TCGA-HT-7475-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bec9fcfd-d067-4fd3-9527-131617b1b06b	fa4ffd6d-1941-46d3-afdd-cfbc91191dd1	g.chrX:76813076T>C	ENST00000373344.5	-	30	6759	c.6545A>G	c.(6544-6546)aAg>aGg	p.K2182R	ATRX_ENST00000395603.3_Missense_Mutation_p.K2144R|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2182	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)	CAGTGACTGCTTAGTTACTTG	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76813076	T	C	76813076	3	2	519	1	0	0	0	0	1	0	0	0	1213	1609	56	3	957	3	ATRX	23	76813076	Missense_Mutation	SNP	T	TCGA-HT-7475-01A-11D-2024-08	29720621	76813076	78457484	53	46599											
ITIH4	3700	broad.mit.edu	37	chr3	52848085	52848085	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcacctcctggtaaaactGgcctgagatacaaagggtgg	12	7	13	9	0	0	1	0	1	0	1	1	3	1	1	3	4	3	2	3	4	4	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr3:52848085G>A	ENST00000266041.4	-	23	2725	c.2629C>T	c.(2629-2631)Cag>Tag	p.Q877*	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000346281.5_Nonsense_Mutation_p.Q861*|ITIH4_ENST00000406595.1_Nonsense_Mutation_p.Q847*|ITIH4_ENST00000485816.1_Nonsense_Mutation_p.Q882*	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	877					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		TGGTAAAACTGGCCTGAGATA	0.592													A	52848085	G	A	52848085	4	1	520	1	0	0	0	0	0	1	0	0	7964	1357	47	2	171	2	ITIH4	3	52848085	Nonsense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		52848085	145174345	1	46600											
KIAA1211	57482	broad.mit.edu	37	chr4	57193877	57193877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaagaggttttccaccccGgatgctgcccccgtgtcaac	8	8	9	16	2	1	1	1	0	0	1	2	2	2	2	6	2	3	2	6	2	2	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:57193877G>A	ENST00000504228.1	+	9	3714	c.3609G>A	c.(3607-3609)ccG>ccA	p.P1203P	KIAA1211_ENST00000541073.1_Silent_p.P1196P|KIAA1211_ENST00000264229.6_Silent_p.P1203P			Q6ZU35	K1211_HUMAN	KIAA1211	1203										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					TTTCCACCCCGGATGCTGCCC	0.507													A	57193877	G	A	57193877	2	1	520	1	0	0	0	0	0	0	0	1	8273	1103	39	1		1	KIAA1211	4	57193877	Silent	SNP	G	TCGA-HT-7476-01A-11D-2024-08		57193877	133960399	2	46601											
TRPC3	7222	broad.mit.edu	37	chr4	122853715	122853715	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgatgggggtgatgTccggcgagaagcgcgtgccg	7	6	19	9	5	0	3	0	2	0	1	1	5	1	4	3	4	2	0	3	4	1	0			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:122853715T>A	ENST00000264811.5	-	1	897	c.479A>T	c.(478-480)gAc>gTc	p.D160V	TRPC3_ENST00000513531.1_Missense_Mutation_p.D160V|TRPC3_ENST00000379645.3_Missense_Mutation_p.D233V	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	148					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						GGGGGTGATGTCCGGCGAGAA	0.617													A	122853715	T	A	122853715	3	1	520	1	0	0	0	0	1	0	0	0	16680	1667	58	5	2111	5	TRPC3	4	122853715	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	65659838	122853715	68300561	3	46602											
FAT4	79633	broad.mit.edu	37	chr4	126239920	126239920	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaaccatcactgtattggAcactcaagacaacccacctg	14	8	6	13	0	2	1	2	0	0	1	2	2	2	2	3	1	2	2	3	1	4	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr4:126239920A>G	ENST00000394329.3	+	1	2367	c.2354A>G	c.(2353-2355)gAc>gGc	p.D785G		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	785	Cadherin 7.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						ACTGTATTGGACACTCAAGAC	0.448													G	126239920	A	G	126239920	3	3	520	1	0	0	0	0	1	0	0	0	5741	275	10	3	2356	3	FAT4	4	126239920	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	3386205	126239920	64914356	4	46603											
AP3B1	8546	broad.mit.edu	37	chr5	77473214	77473214	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagaaattatgccagcttcaGattttggtgatatgtgccaa	12	14	9	6	0	1	3	1	1	0	2	1	3	1	3	2	1	3	1	2	1	5	6			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr5:77473214G>C	ENST00000255194.6	-	9	1164	c.989C>G	c.(988-990)tCt>tGt	p.S330C	AP3B1_ENST00000519295.1_Missense_Mutation_p.S281C	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	330					endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GCCAGCTTCAGATTTTGGTGA	0.338									Hermansky-Pudlak syndrome				C	77473214	G	C	77473214	3	2	520	1	0	0	0	0	1	0	0	0	746	942	33	4	2371	4	AP3B1	5	77473214	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		77473214	103442046	5	46604											
CDC40	51362	broad.mit.edu	37	chr6	110533393	110533393	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcacatacctcaggatgttgGtgttaatctacggtcaacta	11	13	8	9	1	4	0	3	0	1	0	4	1	4	1	1	3	3	2	1	3	5	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr6:110533393G>T	ENST00000368932.1	+	8	886	c.785G>T	c.(784-786)gGt>gTt	p.G262V	CDC40_ENST00000368930.1_Missense_Mutation_p.G262V|CDC40_ENST00000307731.1_Missense_Mutation_p.G262V			O60508	PRP17_HUMAN	cell division cycle 40	262					mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		CAGGATGTTGGTGTTAATCTA	0.378													T	110533393	G	T	110533393	3	4	520	1	0	0	0	0	1	0	0	0	3100	1261	44	4	811	4	CDC40	6	110533393	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		110533393	60581674	6	46605											
DYNC1I1	1780	broad.mit.edu	37	chr7	95657551	95657551	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggttggtgggacttactCgggccagattgtcctctggg	4	12	17	8	1	1	1	0	0	1	1	3	2	2	2	2	6	1	1	2	6	1	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:95657551C>T	ENST00000324972.6	+	11	1278	c.1085C>T	c.(1084-1086)tCg>tTg	p.S362L	DYNC1I1_ENST00000447467.2_Missense_Mutation_p.S345L|DYNC1I1_ENST00000457059.1_Missense_Mutation_p.S345L|DYNC1I1_ENST00000537881.1_Missense_Mutation_p.S325L|DYNC1I1_ENST00000359388.4_Missense_Mutation_p.S325L|DYNC1I1_ENST00000437599.1_Missense_Mutation_p.S342L	NM_004411.4	NP_004402.1	O14576	DC1I1_HUMAN	dynein, cytoplasmic 1, intermediate chain 1	362					vesicle transport along microtubule	condensed chromosome kinetochore|cytoplasmic dynein complex|microtubule|perinuclear region of cytoplasm|spindle pole|vesicle	microtubule binding|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(27)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	54	all_cancers(62;9.39e-10)|all_epithelial(64;2.28e-09)|Lung NSC(181;0.165)|all_lung(186;0.191)		STAD - Stomach adenocarcinoma(171;0.0957)			GGGACTTACTCGGGCCAGATT	0.532													T	95657551	C	T	95657551	3	4	520	1	0	0	0	0	1	0	0	0	4881	893	31	1	1123	1	DYNC1I1	7	95657551	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		95657551	63481112	7	46606											
SPAM1	6677	broad.mit.edu	37	chr7	123594310	123594310	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggattgttacaaccatcactAtaagaaacccggttacaatg	15	10	7	9	1	1	1	1	0	0	1	1	2	1	2	2	2	4	2	2	2	7	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr7:123594310A>T	ENST00000340011.5	+	3	1043	c.686A>T	c.(685-687)tAt>tTt	p.Y229F	SPAM1_ENST00000439500.1_Missense_Mutation_p.Y229F|SPAM1_ENST00000402183.2_Missense_Mutation_p.Y229F|SPAM1_ENST00000223028.7_Missense_Mutation_p.Y229F|SPAM1_ENST00000460182.1_Missense_Mutation_p.Y229F	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	229					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity	p.Y229C(2)		breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	AACCATCACTATAAGAAACCC	0.388													T	123594310	A	T	123594310	3	4	520	1	0	0	0	0	1	0	0	0	15082	449	16	5	688	5	SPAM1	7	123594310	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	27936759	123594310	35544353	8	46607											
GDAP1	54332	broad.mit.edu	37	chr8	75274211	75274211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcaaaacagaaacgacttAaagtaagccaatcagctgtc	17	8	7	9	1	1	1	1	0	0	1	2	2	1	1	1	0	5	3	1	0	7	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr8:75274211A>G	ENST00000220822.7	+	4	657	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	GDAP1_ENST00000434412.2_Missense_Mutation_p.K125E|GDAP1_ENST00000521096.1_3'UTR	NM_001040875.2|NM_018972.2	NP_001035808.1|NP_061845.2	Q8TB36	GDAP1_HUMAN	ganglioside induced differentiation associated protein 1	193	GST C-terminal.					cytoplasm				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Breast(64;0.00769)	Myeloproliferative disorder(644;0.0122)	BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.104)|all cancers(69;0.234)			GAAACGACTTAAAGTAAGCCA	0.358													G	75274211	A	G	75274211	3	3	520	1	0	0	0	0	1	0	0	0	6362	363	13	3	591	3	GDAP1	8	75274211	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		75274211	71089811	9	46608											
MUSK	4593	broad.mit.edu	37	chr9	113457754	113457754	+	Frame_Shift_Del	DEL	A	A	-																															aagcagtcctaccatgtactAcaatgggtaatcccaaacca																										TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113457754delA	ENST00000416899.2	+	4	556	c.430delA	c.(430-432)acafs	p.T144fs	MUSK_ENST00000374448.4_Frame_Shift_Del_p.T144fs|MUSK_ENST00000189978.5_Frame_Shift_Del_p.T144fs|MUSK_ENST00000374439.1_Frame_Shift_Del_p.T26fs|MUSK_ENST00000374440.3_Frame_Shift_Del_p.T26fs			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	144	Ig-like 2.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						ACCATGTACTACAATGGGTAA	0.328													-	113457754	A	-	113457754	7	5	520	1	0	1	0	1	0	0	0	0	10065	391	14	0	444	0	MUSK	9	113457754	Frame_Shift_Del	DEL	A	TCGA-HT-7476-01A-11D-2024-08		113457754	27755677	10	46609											
MUSK	4593	broad.mit.edu	37	chr9	113547910	113547910	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgctccttctgaaccccAaattgctcagcctggagtat	8	11	8	14	1	2	1	1	1	1	0	3	2	3	2	5	1	4	3	5	1	3	3			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr9:113547910A>G	ENST00000416899.2	+	11	1792	c.1666A>G	c.(1666-1668)Aaa>Gaa	p.K556E	MUSK_ENST00000189978.5_Missense_Mutation_p.K564E|MUSK_ENST00000374438.1_Missense_Mutation_p.K80E|MUSK_ENST00000374448.4_Missense_Mutation_p.K564E			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	564					transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	p.K564*(1)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TCTGAACCCCAAATTGCTCAG	0.483													G	113547910	A	G	113547910	3	3	520	1	0	0	0	0	1	0	0	0	10065	131	5	3	1772	3	MUSK	9	113547910	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08	90156	113547910	27665521	11	46610											
KIAA1377	57562	broad.mit.edu	37	chr11	101857730	101857730	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcagctgaagaacagAagatcctagagtcccttaat	14	9	8	10	0	1	5	1	1	0	4	3	5	3	5	2	0	2	1	2	0	5	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr11:101857730A>G	ENST00000263468.8	+	9	3472	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	KIAA1377_ENST00000537689.1_Missense_Mutation_p.K869E	NM_020802.2	NP_065853.2	Q9P2H0	K1377_HUMAN	KIAA1377	1068							protein binding			breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(18)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	53	all_epithelial(12;0.0104)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00931)		BRCA - Breast invasive adenocarcinoma(274;0.038)		TGAAGAACAGAAGATCCTAGA	0.328													G	101857730	A	G	101857730	3	3	520	1	0	0	0	0	1	0	0	0	8285	247	9	3	3236	3	KIAA1377	11	101857730	Missense_Mutation	SNP	A	TCGA-HT-7476-01A-11D-2024-08		101857730	33148786	12	46611											
LRFN5	145581	broad.mit.edu	37	chr14	42356999	42356999	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaaccatatccatgagcctGatcctggttcttcagatatc	11	12	6	12	0	2	3	1	2	1	1	5	3	4	3	4	1	2	1	4	1	3	4			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr14:42356999G>C	ENST00000554171.1	+	5	3603	c.1171G>C	c.(1171-1173)Gat>Cat	p.D391H	LRFN5_ENST00000298119.4_Missense_Mutation_p.D391H|LRFN5_ENST00000554120.1_Missense_Mutation_p.D391H			Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	391						integral to membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		CCATGAGCCTGATCCTGGTTC	0.388										HNSCC(30;0.082)			C	42356999	G	C	42356999	3	2	520	1	0	0	0	0	1	0	0	0	9011	1290	45	4	1173	4	LRFN5	14	42356999	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		42356999	64992541	13	46612											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	520	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		90631838	11899554	14	46613											
UNC45A	55898	broad.mit.edu	37	chr15	91491977	91491977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agcccgaccccaagatggtgGagctggccaagtatgccaag	11	5	13	12	1	0	1	0	0	0	1	0	3	0	2	5	3	3	2	5	3	4	1			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr15:91491977G>C	ENST00000394275.2	+	16	2621	c.1786G>C	c.(1786-1788)Gag>Cag	p.E596Q	UNC45A_ENST00000418476.2_Missense_Mutation_p.E611Q	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	611					cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			CAAGATGGTGGAGCTGGCCAA	0.627													C	91491977	G	C	91491977	3	2	520	1	0	0	0	0	1	0	0	0	17090	1175	41	4	1881	4	UNC45A	15	91491977	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08	860139	91491977	11039415	15	46614											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	520	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7476-01A-11D-2024-08		7577121	73618089	16	46615											
MYH2	4620	broad.mit.edu	37	chr17	10440777	10440777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacttgcccaggtgctggTcatacagcttgttcttgaag	8	12	11	10	0	2	2	1	1	1	1	2	2	2	2	1	2	4	3	1	2	2	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr17:10440777T>C	ENST00000245503.5	-	16	2054	c.1670A>G	c.(1669-1671)gAc>gGc	p.D557G	MYH2_ENST00000532183.2_Missense_Mutation_p.D557G|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.D557G	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	557	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CAGGTGCTGGTCATACAGCTT	0.527													C	10440777	T	C	10440777	3	2	520	1	0	0	0	0	1	0	0	0	10111	1667	58	3	4255	3	MYH2	17	10440777	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	2863656	10440777	70754433	17	46616											
ELP2	55250	broad.mit.edu	37	chr18	33739707	33739707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcaaactaggagatatagCttctcagccttctgatgaag	12	12	8	9	0	3	3	2	2	2	1	4	4	3	3	1	1	3	1	1	1	5	6			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr18:33739707C>T	ENST00000358232.6	+	15	1607	c.1544C>T	c.(1543-1545)gCt>gTt	p.A515V	ELP2_ENST00000423854.2_Missense_Mutation_p.A445V|ELP2_ENST00000542824.1_Missense_Mutation_p.A445V|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000351393.6_Missense_Mutation_p.A489V|ELP2_ENST00000442325.2_Missense_Mutation_p.A580V|ELP2_ENST00000350494.6_Missense_Mutation_p.A510V	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	515					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						GGAGATATAGCTTCTCAGCCT	0.398													T	33739707	C	T	33739707	3	4	520	1	0	0	0	0	1	0	0	0	5121	797	28	2	1602	2	ELP2	18	33739707	Missense_Mutation	SNP	C	TCGA-HT-7476-01A-11D-2024-08		33739707	44337541	18	46617											
FLRT3	23767	broad.mit.edu	37	chr20	14307457	14307457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtcagggaattccgcacCagggacagctctgtcaaatt	11	8	11	11	1	3	0	2	0	1	0	4	2	4	2	2	2	1	3	2	2	2	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr20:14307457C>T	ENST00000378053.3	-	2	952	c.696G>A	c.(694-696)ctG>ctA	p.L232L	FLRT3_ENST00000341420.4_Silent_p.L232L|MACROD2_ENST00000310348.4_Intron|MACROD2_ENST00000217246.4_Intron	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	232					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		AATTCCGCACCAGGGACAGCT	0.453													T	14307457	C	T	14307457	2	4	520	1	0	0	0	0	0	0	0	1	5989	581	21	2		2	FLRT3	20	14307457	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		14307457	48718063	19	46618											
TPTE	7179	broad.mit.edu	37	chr21	10973723	10973723	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacgtacgcataactcacCtttcattcatacgtgcctct	10	12	4	15	3	4	0	3	0	1	0	4	0	4	0	2	0	4	2	2	0	3	5			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chr21:10973723C>G	ENST00000298232.7	-	4	378	c.11G>C	c.(10-12)aGt>aCt	p.S4T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Splice_Site_p.S4T|TPTE_ENST00000361285.4_Splice_Site_p.S4T	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	4					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATAACTCACCTTTCATTCAT	0.383													G	10973723	C	G	10973723	5	3	520	1	0	0	0	0	0	0	1	0	16531	695	24	4	1728	4	TPTE	21	10973723	Splice_Site	SNP	C	TCGA-HT-7476-01A-11D-2024-08		10973723	37156172	20	46619											
SSX1	6756	broad.mit.edu	37	chrX	48125816	48125816	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgaccctgaggaagatgaCgagtaactccgtaagtgaac	14	7	12	8	2	0	5	0	4	0	1	1	7	1	6	2	1	2	2	2	1	4	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:48125816C>T	ENST00000376919.3	+	7	697	c.561C>T	c.(559-561)gaC>gaT	p.D187D		NM_001278691.1|NM_005635.2	NP_001265620.1|NP_005626.1	Q16384	SSX1_HUMAN	synovial sarcoma, X breakpoint 1	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|transcription corepressor activity		SS18/SSX1(1169)|SS18L1/SSX1(2)	endometrium(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9						AGGAAGATGACGAGTAACTCC	0.488			T	SS18	synovial sarcoma								T	48125816	C	T	48125816	2	4	520	1	0	0	0	0	0	0	0	1	15299	535	19	1		1	SSX1	23	48125816	Silent	SNP	C	TCGA-HT-7476-01A-11D-2024-08		48125816	107144744	21	46620											
ATRX	546	broad.mit.edu	37	chrX	76939347	76939348	+	Frame_Shift_Del	DEL	TT	TT	-																															atgtgctcactatctacctgTtttcttgaaagtttagcttc																										TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:76939347_76939348delTT	ENST00000373344.5	-	9	1614_1615	c.1400_1401delAA	c.(1399-1401)aaafs	p.K467fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K429fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	467					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)	TATCTACCTGTTTTCTTGAAAG	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939348	TT	-	76939347	7	5	520	1	0	1	0	1	0	0	0	0	1213	1722	60	0	6185	0	ATRX	23	76939347	Frame_Shift_Del	DEL	TT	TCGA-HT-7476-01A-11D-2024-08	28813531	76939347	78331213	22	46621											
COX7B	1349	broad.mit.edu	37	chrX	77155051	77155051	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctagcttcaccttcacgAtgtttcccttggtcaaaagc	8	14	7	12	1	4	0	3	0	1	0	5	1	5	0	2	1	2	3	2	1	3	6			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:77155051A>T	ENST00000481445.1	+	1	117	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	COX7B_ENST00000475465.1_3'UTR	NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	1					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CACCTTCACGATGTTTCCCTT	0.443													T	77155051	A	T	77155051	1	4	520	1	0	0	0	0	0	0	0	0	3813	333	12	5		5	COX7B	23	77155051	Translation_Start_Site	SNP	A	TCGA-HT-7476-01A-11D-2024-08	215704	77155051	78115509	23	46622											
PCDH19	57526	broad.mit.edu	37	chrX	99662028	99662028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaacgccttggtctgctcgTggttaaaggatcgcagcgcg	7	9	14	11	6	1	0	0	0	1	0	3	2	1	1	1	3	3	3	1	3	3	2			TCGA-HT-7476-01A-11D-2024-08	TCGA-HT-7476-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c9627781-e55f-45ac-9c49-bdd3b0bcdc86	6dff219a-04da-4385-bcdb-17871c41e822	g.chrX:99662028T>C	ENST00000373034.4	-	1	3243	c.1568A>G	c.(1567-1569)cAc>cGc	p.H523R	PCDH19_ENST00000420881.2_Missense_Mutation_p.H523R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H523R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	523	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GGTCTGCTCGTGGTTAAAGGA	0.582													C	99662028	T	C	99662028	3	2	520	1	0	0	0	0	1	0	0	0	11590	1696	59	3	1902	3	PCDH19	23	99662028	Missense_Mutation	SNP	T	TCGA-HT-7476-01A-11D-2024-08	22506977	99662028	55608532	24	46623											
CROCC	9696	broad.mit.edu	37	chr1	17264170	17264170	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcctggcagtgaagcgtcttGagaagcagaatctggagaag	12	7	15	7	1	2	4	0	2	2	3	2	6	2	4	1	2	2	2	1	2	4	1	rs141704732		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:17264170G>C	ENST00000375541.5	+	10	1297	c.1228G>C	c.(1228-1230)Gag>Cag	p.E410Q	CROCC_ENST00000467938.1_3'UTR	NM_014675.3	NP_055490.3	Q5TZA2	CROCC_HUMAN	ciliary rootlet coiled-coil, rootletin	410					cell cycle|cell projection organization|centrosome organization|protein localization	actin cytoskeleton|centriole|ciliary rootlet|plasma membrane	kinesin binding|structural molecule activity			breast(3)|central_nervous_system(2)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(1)|lung(20)|ovary(3)|prostate(9)|skin(3)|urinary_tract(1)	62		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000174)|all_lung(284;0.000234)|Renal(390;0.000518)|Ovarian(437;0.00669)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.63e-06)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(64;0.000163)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.181)		GAAGCGTCTTGAGAAGCAGAA	0.572													C	17264170	G	C	17264170	3	2	521	1	0	0	0	0	1	0	0	0	3924	1291	45	4	1266	4	CROCC	1	17264170	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		17264170	231986451	1	46624											
FCRL5	83416	broad.mit.edu	37	chr1	157514077	157514077	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acctgtatccaggatctcggGctgtcagatatgacgctgta	9	11	11	10	2	2	2	1	1	1	1	4	3	3	3	2	2	0	4	2	2	3	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:157514077G>T	ENST00000361835.3	-	5	976	c.819C>A	c.(817-819)agC>agA	p.S273R	FCRL5_ENST00000368189.3_Missense_Mutation_p.S273R|FCRL5_ENST00000368191.3_Missense_Mutation_p.S188R|FCRL5_ENST00000356953.4_Missense_Mutation_p.S273R|FCRL5_ENST00000368190.3_Missense_Mutation_p.S273R	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	273						integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				AGGATCTCGGGCTGTCAGATA	0.512													T	157514077	G	T	157514077	3	4	521	1	0	0	0	0	1	0	0	0	5847	1194	42	4	2166	4	FCRL5	1	157514077	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	140249907	157514077	91736544	2	46625											
PTGS2	5743	broad.mit.edu	37	chr1	186643728	186643728	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaggcaggagaacatatAacattacccataagtccttt	15	10	7	9	0	0	1	0	0	0	1	1	2	1	1	2	2	3	2	2	2	6	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:186643728A>G	ENST00000367468.5	-	10	1708	c.1572T>C	c.(1570-1572)gtT>gtC	p.V524V	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	524					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	GAGAACATATAACATTACCCA	0.458													G	186643728	A	G	186643728	2	3	521	1	0	0	0	0	0	0	0	1	12842	349	13	3		3	PTGS2	1	186643728	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	29129651	186643728	62606893	3	46626											
LAD1	3898	broad.mit.edu	37	chr1	201352455	201352455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacccacccgtatggccGtgtggtatctctccagcttc	5	10	8	18	2	1	0	0	0	1	0	4	0	2	0	6	2	1	3	6	2	2	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:201352455G>A	ENST00000391967.2	-	6	1539	c.1238C>T	c.(1237-1239)aCg>aTg	p.T413M	LAD1_ENST00000367313.3_Missense_Mutation_p.T427M|LAD1_ENST00000488842.1_5'UTR	NM_005558.3	NP_005549.2	O00515	LAD1_HUMAN	ladinin 1	413						basement membrane	structural molecule activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|prostate(2)|skin(2)	19						CCGTATGGCCGTGTGGTATCT	0.597													A	201352455	G	A	201352455	3	1	521	1	0	0	0	0	1	0	0	0	8658	1145	40	1	335	1	LAD1	1	201352455	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	14708727	201352455	47898166	4	46627											
RYR2	6262	broad.mit.edu	37	chr1	237804274	237804274	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattcagctttgattgaccTcttgggacgctgtgctcctg	5	15	10	11	1	2	2	1	2	1	0	3	3	3	3	2	1	2	3	2	1	1	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr1:237804274T>C	ENST00000366574.2	+	47	7510	c.7193T>C	c.(7192-7194)cTc>cCc	p.L2398P	RYR2_ENST00000360064.6_Missense_Mutation_p.L2396P|RYR2_ENST00000542537.1_Missense_Mutation_p.L2382P	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2398	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGATTGACCTCTTGGGACGC	0.453													C	237804274	T	C	237804274	3	2	521	1	0	0	0	0	1	0	0	0	13860	1551	54	3	7379	3	RYR2	1	237804274	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	36451819	237804274	11446347	5	46628											
C2orf68	388969	broad.mit.edu	37	chr2	85839085	85839085	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgcagcagtgccccggcCggggatgcggccccgcctcc	3	5	15	18	4	0	0	0	0	0	0	1	1	1	1	7	4	4	3	7	4	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:85839085C>G	ENST00000306336.5	-	1	67	c.23G>C	c.(22-24)cGg>cCg	p.R8P	USP39_ENST00000459775.1_Intron|C2orf68_ENST00000409734.3_Missense_Mutation_p.R8P	NM_001013649.3	NP_001013671.2	Q2NKX9	CB068_HUMAN	chromosome 2 open reading frame 68	8										breast(1)|central_nervous_system(1)|endometrium(1)	3						GTGCCCCGGCCGGGGATGCGG	0.731													G	85839085	C	G	85839085	3	3	521	1	0	0	0	0	1	0	0	0	2208	652	23	4	493	4	C2orf68	2	85839085	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		85839085	157360288	6	46629											
GPR45	11250	broad.mit.edu	37	chr2	105858985	105858985	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcctcaacacggtccgcAagaacgccgtgcgcgtgcac	9	5	11	16	6	1	1	1	0	0	1	3	1	3	1	3	1	4	3	3	1	3	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:105858985A>G	ENST00000258456.1	+	1	786	c.670A>G	c.(670-672)Aag>Gag	p.K224E		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	224						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						CACGGTCCGCAAGAACGCCGT	0.672													G	105858985	A	G	105858985	3	3	521	1	0	0	0	0	1	0	0	0	6750	131	5	3	672	3	GPR45	2	105858985	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	20019900	105858985	137340388	7	46630											
POTEE	445582	broad.mit.edu	37	chr2	131981311	131981311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtagccaactatatcagcatGaggtgggtttgatttcaata	12	13	10	6	0	2	2	2	2	0	0	2	2	2	2	1	2	3	3	1	2	6	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:131981311G>A	ENST00000358087.5	+	2	716	c.664G>A	c.(664-666)Gag>Aag	p.E222K	POTEE_ENST00000356920.5_Intron|PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron			Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	212							ATP binding										ATATCAGCATGAGGTGGGTTT	0.358													A	131981311	G	A	131981311	3	1	521	1	0	0	0	0	1	0	0	0	12341	1305	45	2		2	POTEE	2	131981311	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	26122326	131981311	111218062	8	46631											
TTN	7273	broad.mit.edu	37	chr2	179588855	179588855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcagtcttcgtgtgaaagagGgaggaactgctcggtctgtg	8	11	15	7	2	3	2	1	1	2	1	5	4	3	4	0	3	2	1	0	3	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:179588855G>A	ENST00000589042.1	-	73	21355	c.21131C>T	c.(21130-21132)cCc>cTc	p.P7044L	TTN-AS1_ENST00000585451.1_RNA|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P6727L|TTN_ENST00000342992.6_Missense_Mutation_p.P5800L|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6727	Ig-like 52.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGTGAAAGAGGGAGGAACTGC	0.423													A	179588855	G	A	179588855	3	1	521	1	0	0	0	0	1	0	0	0	16837	1232	43	2	83558	2	TTN	2	179588855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	47607544	179588855	63610518	9	46632											
DNAH7	56171	broad.mit.edu	37	chr2	196749379	196749379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagttagtgcctttgaggatGtttgctcagtaccactctgt	7	15	10	9	0	2	1	1	1	1	0	2	2	2	2	2	1	3	4	2	1	2	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:196749379G>A	ENST00000312428.6	-	35	5793	c.5693C>T	c.(5692-5694)aCa>aTa	p.T1898I		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	1898					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						CTTTGAGGATGTTTGCTCAGT	0.358													A	196749379	G	A	196749379	3	1	521	1	0	0	0	0	1	0	0	0	4645	1377	48	2	6505	2	DNAH7	2	196749379	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	17160524	196749379	46449994	10	46633											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	521	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	12363733	209113112	34086261	11	46634											
ANKMY1	51281	broad.mit.edu	37	chr2	241468460	241468460	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagactagtcacctgaacTtgtaagtttgcttctggatt	10	14	9	8	0	2	2	1	1	1	1	2	3	2	3	1	1	3	4	1	1	3	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr2:241468460T>G	ENST00000391987.1	-	5	1046	c.680A>C	c.(679-681)aAg>aCg	p.K227T	ANKMY1_ENST00000401804.1_Missense_Mutation_p.K316T|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000272972.3_Missense_Mutation_p.K227T|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000406958.1_Intron|ANKMY1_ENST00000405002.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	227							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		TCACCTGAACTTGTAAGTTTG	0.522													G	241468460	T	G	241468460	3	3	521	1	0	0	0	0	1	0	0	0	634	1609	56	5	2201	5	ANKMY1	2	241468460	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	32355348	241468460	1730913	12	46635											
NBEAL2	23218	broad.mit.edu	37	chr3	47038035	47038035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgggggctgtggccatctTtcacgaagccctgcaggcga	6	8	15	12	2	2	0	1	0	1	0	2	2	2	0	2	4	2	3	2	4	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:47038035T>C	ENST00000450053.3	+	16	2605	c.2426T>C	c.(2425-2427)tTt>tCt	p.F809S	NBEAL2_ENST00000292309.5_Missense_Mutation_p.F809S|NBEAL2_ENST00000383740.2_5'UTR	NM_015175.2	NP_055990.1	Q6ZNJ1	NBEL2_HUMAN	neurobeachin-like 2	809							binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(9)|lung(9)|ovary(4)|pancreas(1)|prostate(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	51		Acute lymphoblastic leukemia(5;0.0534)		BRCA - Breast invasive adenocarcinoma(193;0.0012)|KIRC - Kidney renal clear cell carcinoma(197;0.00575)|Kidney(197;0.00656)		GTGGCCATCTTTCACGAAGCC	0.657													C	47038035	T	C	47038035	3	2	521	1	0	0	0	0	1	0	0	0	10265	1841	64	3	2488	3	NBEAL2	3	47038035	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		47038035	150984395	13	46636											
SEMA3B	7869	broad.mit.edu	37	chr3	50311108	50311108	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgggtatggggttggggAggggggcagcggcgcagact	6	6	24	5	2	0	1	0	0	0	1	0	3	0	2	0	9	1	4	0	9	1	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	50311108	A	G	50311108	1	3	521	0	1	0	0	0	0	0	0	0	14118	319	11	3		3	SEMA3B	3	50311108	RNA	SNP	A	TCGA-HT-7477-01B-11D-A289-08	3273073	50311108	147711322	14	46637											
P2RY12	64805	broad.mit.edu	37	chr3	151056104	151056104	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgaactctgatttaaggAaagagcatttcttcacattc	13	12	7	9	1	3	2	1	1	2	1	4	5	3	3	1	1	2	1	1	1	3	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr3:151056104A>T	ENST00000302632.3	-	3	829	c.530T>A	c.(529-531)tTc>tAc	p.F177Y	MED12L_ENST00000273432.4_Intron|MED12L_ENST00000474524.1_Intron|MED12L_ENST00000491549.1_Intron	NM_022788.4|NM_176876.2	NP_073625.1|NP_795345.1	Q9H244	P2Y12_HUMAN	purinergic receptor P2Y, G-protein coupled, 12	177					platelet activation	integral to membrane|plasma membrane	guanyl-nucleotide exchange factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)|skin(1)	17			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		Clopidogrel(DB00758)|Epoprostenol(DB01240)|Ticlopidine(DB00208)|Treprostinil(DB00374)	TGATTTAAGGAAAGAGCATTT	0.368													T	151056104	A	T	151056104	3	4	521	1	0	0	0	0	1	0	0	0	11425	246	9	5	502	5	P2RY12	3	151056104	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	100744996	151056104	46966326	15	46638											
RGS12	6002	broad.mit.edu	37	chr4	3318009	3318009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctacggattcacgctttcgGgacaggcaccctgtgtgctc	6	10	12	13	3	1	0	1	0	0	0	3	2	1	2	1	3	2	4	1	3	1	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:3318009G>A	ENST00000336727.3	+	2	1016	c.112G>A	c.(112-114)Gga>Aga	p.G38R	RGS12_ENST00000543385.1_Missense_Mutation_p.G38R|RGS12_ENST00000344733.5_Missense_Mutation_p.G38R|RGS12_ENST00000382788.3_Missense_Mutation_p.G38R	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	38	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACGCTTTCGGGACAGGCACC	0.637													A	3318009	G	A	3318009	3	1	521	1	0	0	0	0	1	0	0	0	13384	1233	43	2	114	2	RGS12	4	3318009	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		3318009	187836267	16	46639											
FRYL	285527	broad.mit.edu	37	chr4	48536663	48536663	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagactataaataatctgtaGtaatgattgctgcatactgg	14	14	8	5	0	1	2	0	1	1	1	1	2	1	2	0	1	3	4	0	1	8	8			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:48536663G>A	ENST00000537810.1	-	49	7208	c.6604C>T	c.(6604-6606)Cta>Tta	p.L2202L	FRYL_ENST00000507873.2_5'UTR|FRYL_ENST00000264319.7_5'UTR|FRYL_ENST00000358350.4_Silent_p.L2202L|FRYL_ENST00000503238.1_Silent_p.L2202L			O94915	FRYL_HUMAN	FRY-like	2202					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(21)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	91						ATAATCTGTAGTAATGATTGC	0.313													A	48536663	G	A	48536663	2	1	521	1	0	0	0	0	0	0	0	1	6116	1020	36	2		2	FRYL	4	48536663	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	45218654	48536663	142617613	17	46640											
SRP72	6731	broad.mit.edu	37	chr4	57340270	57340270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttagcagtgtatagagatctCgtccgaaactcccaagatga	13	10	9	9	2	1	3	0	1	1	2	4	5	3	3	2	0	2	2	2	0	5	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:57340270C>T	ENST00000342756.5	+	4	1126	c.405C>T	c.(403-405)ctC>ctT	p.L135L	SRP72_ENST00000510663.1_Silent_p.L135L|SRP72_ENST00000504757.1_Silent_p.L135L	NM_006947.3	NP_008878.3	O76094	SRP72_HUMAN	signal recognition particle 72kDa	135					response to drug|SRP-dependent cotranslational protein targeting to membrane	cytosol|nucleolus|plasma membrane|signal recognition particle, endoplasmic reticulum targeting	7S RNA binding|signal recognition particle binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(4)|liver(2)|lung(7)|ovary(2)	22	Glioma(25;0.08)|all_neural(26;0.101)					ATAGAGATCTCGTCCGAAACT	0.378													T	57340270	C	T	57340270	2	4	521	1	0	0	0	0	0	0	0	1	15253	871	31	1		1	SRP72	4	57340270	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	8803607	57340270	133814006	18	46641											
C4orf21	55345	broad.mit.edu	37	chr4	113475127	113475127	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcactttcattttctgagCcagcatgcaagctaaagaat	12	13	7	9	0	3	2	2	1	1	1	3	2	3	2	1	0	4	4	1	0	4	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:113475127C>A	ENST00000505019.1	-	22	5335	c.5210G>T	c.(5209-5211)gGc>gTc	p.G1737V		NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTTTCTGAGCCAGCATGCAA	0.313													A	113475127	C	A	113475127	3	1	521	1	0	0	0	0	1	0	0	0	2276	739	26	4	1132	4	C4orf21	4	113475127	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	56134857	113475127	77679149	19	46642											
BBS12	166379	broad.mit.edu	37	chr4	123664898	123664898	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaatttgaagccagcacAtacattcaacatcatctgca	15	10	5	11	0	4	2	3	1	1	1	4	2	4	2	1	0	5	2	1	0	4	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:123664898A>G	ENST00000542236.1	+	3	2232	c.1851A>G	c.(1849-1851)acA>acG	p.T617T	BBS12_ENST00000314218.3_Silent_p.T617T	NM_001178007.1	NP_001171478.1	Q6ZW61	BBS12_HUMAN	Bardet-Biedl syndrome 12	617					cellular protein metabolic process	cilium	ATP binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|prostate(4)	21						AAGCCAGCACATACATTCAAC	0.363									Bardet-Biedl syndrome				G	123664898	A	G	123664898	2	3	521	1	0	0	0	0	0	0	0	1	1342	204	8	3		3	BBS12	4	123664898	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08	10189771	123664898	67489378	20	46643											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000511528.1_Silent_p.P701P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000344721.4_Silent_p.P697P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													G	149075976	T	G	149075976	2	3	521	1	0	0	0	0	0	0	0	1	10707	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08	25411078	149075976	42078300	21	46644											
TRIML2	205860	broad.mit.edu	37	chr4	189018488	189018488	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactcacctttctaaagAgtattttgcattctaaggga	14	13	7	7	0	3	1	1	0	2	1	3	3	3	2	1	1	2	2	1	1	6	7			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr4:189018488A>G	ENST00000512729.1	-	5	858	c.484T>C	c.(484-486)Tct>Cct	p.S162P	TRIML2_ENST00000326754.3_Missense_Mutation_p.S187P	NM_173553.1	NP_775824.1	Q8N7C3	TRIMM_HUMAN	tripartite motif family-like 2	162							ligase activity			central_nervous_system(2)|kidney(1)|large_intestine(7)|lung(25)|prostate(3)|urinary_tract(1)	39		all_cancers(14;3.11e-44)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|all_hematologic(60;0.0202)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)		OV - Ovarian serous cystadenocarcinoma(60;1.79e-11)|BRCA - Breast invasive adenocarcinoma(30;4.52e-06)|GBM - Glioblastoma multiforme(59;1.62e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.0091)|READ - Rectum adenocarcinoma(43;0.163)		CTTTCTAAAGAGTATTTTGCA	0.383													G	189018488	A	G	189018488	3	3	521	1	0	0	0	0	1	0	0	0	16652	304	11	3	691	3	TRIML2	4	189018488	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	39942512	189018488	2135788	22	46645											
CDH9	1007	broad.mit.edu	37	chr5	26881636	26881636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccccgccgccttcatcgTtgtaggtcacaatgttgtcc	5	13	8	15	3	2	0	2	0	0	0	5	0	4	0	5	1	0	3	5	1	2	5			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:26881636T>C	ENST00000231021.4	-	12	2151	c.1979A>G	c.(1978-1980)aAc>aGc	p.N660S		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	660					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						GCCTTCATCGTTGTAGGTCAC	0.428													C	26881636	T	C	26881636	3	2	521	1	0	0	0	0	1	0	0	0	3147	1725	60	3	394	3	CDH9	5	26881636	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		26881636	154033624	23	46646											
EGFLAM	133584	broad.mit.edu	37	chr5	38338820	38338820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttttactctgaggttggCgcagataaatccctgcagga	9	12	11	9	1	2	2	0	1	2	1	3	3	3	3	1	3	2	3	1	3	3	4	rs142461042		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:38338820C>T	ENST00000322350.5	+	3	574	c.228C>T	c.(226-228)ggC>ggT	p.G76G	EGFLAM_ENST00000354891.3_Silent_p.G76G	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	76	Fibronectin type-III 1.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					CTGAGGTTGGCGCAGATAAAT	0.532													T	38338820	C	T	38338820	2	4	521	1	0	0	0	0	0	0	0	1	5005	755	27	1		1	EGFLAM	5	38338820	Silent	SNP	C	TCGA-HT-7477-01B-11D-A289-08	11457184	38338820	142576440	24	46647											
CDKL3	51265	broad.mit.edu	37	chr5	133695594	133695594	+	Frame_Shift_Del	DEL	A	A	-																															tctgaagcacttacattattActgtgaagatagtcaattgc																										TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:133695594delA	ENST00000521118.1	-	3	468	c.354delT	c.(352-354)agtfs	p.S118fs	CDKL3_ENST00000609383.1_Intron|CTD-2410N18.4_ENST00000518409.1_RNA|CDKL3_ENST00000536186.1_Intron|CDKL3_ENST00000435240.2_Intron|CDKL3_ENST00000522501.1_Intron|CDKL3_ENST00000435211.1_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000523054.1_5'UTR|CDKL3_ENST00000265334.4_Frame_Shift_Del_p.S118fs|CDKL3_ENST00000609654.1_Intron|CDKL3_ENST00000521755.1_Intron|CDKL3_ENST00000523832.1_Frame_Shift_Del_p.S118fs			Q8IVW4	CDKL3_HUMAN	cyclin-dependent kinase-like 3	118	Protein kinase.					cytoplasm	ATP binding|cyclin-dependent protein kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(3)	11			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTACATTATTACTGTGAAGAT	0.338													-	133695594	A	-	133695594	7	5	521	1	0	1	0	1	0	0	0	0	3185	388	14	0	1472	0	CDKL3	5	133695594	Frame_Shift_Del	DEL	A	TCGA-HT-7477-01B-11D-A289-08	95356774	133695594	47219666	25	46648											
SLC26A2	1836	broad.mit.edu	37	chr5	149357883	149357883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctatgcaattatggttggcaGcactgtaacctttatagctg	10	14	9	8	0	0	0	0	0	0	0	0	0	0	0	1	2	4	6	1	2	6	7			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr5:149357883G>A	ENST00000286298.4	+	2	936	c.668G>A	c.(667-669)aGc>aAc	p.S223N		NM_000112.3	NP_000103.2	P50443	S26A2_HUMAN	solute carrier family 26 (anion exchanger), member 2	223						integral to plasma membrane|membrane fraction	secondary active sulfate transmembrane transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(1)|prostate(2)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATGGTTGGCAGCACTGTAACC	0.353													A	149357883	G	A	149357883	3	1	521	1	0	0	0	0	1	0	0	0	14611	971	34	2	670	2	SLC26A2	5	149357883	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	15662289	149357883	31557377	26	46649											
PGK2	5232	broad.mit.edu	37	chr6	49754106	49754106	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggccatgatatctttaacGatcttggctccctcttcatc	7	16	6	12	1	4	1	1	1	3	0	6	2	5	1	2	2	1	1	2	2	2	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:49754106G>A	ENST00000304801.3	-	1	947	c.795C>T	c.(793-795)atC>atT	p.I265I		NM_138733.4	NP_620061.2	P07205	PGK2_HUMAN	phosphoglycerate kinase 2	265					glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			autonomic_ganglia(1)|endometrium(3)|large_intestine(12)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	47	Lung NSC(77;0.0402)					TATCTTTAACGATCTTGGCTC	0.418													A	49754106	G	A	49754106	2	1	521	1	0	0	0	0	0	0	0	1	11868	1048	37	1		1	PGK2	6	49754106	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		49754106	121360961	27	46650											
RIMS1	22999	broad.mit.edu	37	chr6	72967911	72967911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaactcatcaccgctcaCgttcagtatctcctcatcgc	10	10	5	16	3	6	0	5	0	1	0	8	1	6	0	2	0	2	3	2	0	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:72967911C>T	ENST00000264839.7	+	17	2854	c.2854C>T	c.(2854-2856)Cgt>Tgt	p.R952C	RIMS1_ENST00000517960.1_Missense_Mutation_p.R951C|RIMS1_ENST00000518273.1_Missense_Mutation_p.R952C|RIMS1_ENST00000348717.5_Missense_Mutation_p.R951C|RIMS1_ENST00000517827.1_Missense_Mutation_p.R411C|RIMS1_ENST00000401910.3_Missense_Mutation_p.R425C|RIMS1_ENST00000522291.1_Missense_Mutation_p.R951C|RIMS1_ENST00000521978.1_Missense_Mutation_p.R952C|RIMS1_ENST00000523963.1_Missense_Mutation_p.R426C|RIMS1_ENST00000425662.2_Missense_Mutation_p.R345C|RIMS1_ENST00000520567.1_Missense_Mutation_p.R951C|RIMS1_ENST00000491071.2_Missense_Mutation_p.R952C|RIMS1_ENST00000538414.1_5'UTR			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	952					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				TCACCGCTCACGTTCAGTATC	0.463													T	72967911	C	T	72967911	3	4	521	1	0	0	0	0	1	0	0	0	13458	536	19	1	3083	1	RIMS1	6	72967911	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	23213805	72967911	98147156	28	46651											
TTK	7272	broad.mit.edu	37	chr6	80720598	80720598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagcagtaccactagaaatGctggaaattgccctgcggaa	13	7	12	9	1	0	1	0	0	0	1	0	4	0	4	2	3	5	3	2	3	5	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:80720598G>A	ENST00000509894.1	+	5	1366	c.537G>A	c.(535-537)atG>atA	p.M179I	TTK_ENST00000369798.2_Missense_Mutation_p.M179I|TTK_ENST00000230510.3_Missense_Mutation_p.M179I			P33981	TTK_HUMAN	TTK protein kinase	179					mitotic cell cycle spindle assembly checkpoint|mitotic spindle organization|positive regulation of cell proliferation|positive regulation of pathway-restricted SMAD protein phosphorylation	spindle	ATP binding|identical protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|kidney(2)|large_intestine(12)|lung(22)|ovary(7)|pancreas(1)|prostate(1)|stomach(3)|urinary_tract(1)	53		all_cancers(76;0.00177)|Acute lymphoblastic leukemia(125;1.24e-05)|all_hematologic(105;0.00223)|all_epithelial(107;0.2)		BRCA - Breast invasive adenocarcinoma(397;0.0321)		CACTAGAAATGCTGGAAATTG	0.348													A	80720598	G	A	80720598	3	1	521	1	0	0	0	0	1	0	0	0	16822	1319	46	2	551	2	TTK	6	80720598	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	7752687	80720598	90394469	29	46652											
TULP4	56995	broad.mit.edu	37	chr6	158923248	158923248	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcagcacccccGccccctctgccgcccccaca	7	2	5	27	2	1	0	0	0	1	0	1	0	1	0	9	0	3	2	9	0	0	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657													C	158923248	G	C	158923248	2	2	521	1	0	0	0	0	0	0	0	1	16878	1074	38	4		4	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	78202650	158923248	12191819	30	46653											
CARD11	84433	broad.mit.edu	37	chr7	2963945	2963945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccctcggattggtgggagGaggaggaggagtggatggag	8	6	23	4	1	0	0	0	0	0	0	1	8	0	8	1	10	0	0	1	10	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:2963945G>A	ENST00000396946.4	-	15	2265	c.1862C>T	c.(1861-1863)tCc>tTc	p.S621F		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	621					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TTGGTGGGAGGAGGAGGAGGA	0.607			Mis		DLBCL								A	2963945	G	A	2963945	3	1	521	1	0	0	0	0	1	0	0	0	2671	1174	41	2	1646	2	CARD11	7	2963945	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		2963945	156174718	31	46654											
DBNL	28988	broad.mit.edu	37	chr7	44097451	44097451	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaagacagcttctgggccaAagcagaggtgagtgctgccc	11	7	13	10	0	1	3	0	1	1	2	1	3	1	3	2	2	4	3	2	2	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:44097451A>G	ENST00000494774.1	+	6	566	c.545A>G	c.(544-546)aAa>aGa	p.K182R	DBNL_ENST00000440166.1_Missense_Mutation_p.K79R|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_Missense_Mutation_p.K87R|DBNL_ENST00000452943.1_Missense_Mutation_p.K157R|DBNL_ENST00000448521.1_Missense_Mutation_p.K182R|DBNL_ENST00000456905.1_Missense_Mutation_p.K133R|DBNL_ENST00000468694.1_Missense_Mutation_p.K182R	NM_014063.6	NP_054782.2	Q9UJU6	DBNL_HUMAN	drebrin-like	182					activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						TTCTGGGCCAAAGCAGAGGTG	0.547													G	44097451	A	G	44097451	3	3	521	1	0	0	0	0	1	0	0	0	4289	14	1	3	567	3	DBNL	7	44097451	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	41133506	44097451	115041212	32	46655											
TRIP6	7205	broad.mit.edu	37	chr7	100465834	100465834	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggggtcggggtcatgcGtcacggcgaccagaccgaca	9	5	16	11	5	2	1	2	0	0	1	3	3	2	1	2	5	1	0	2	5	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:100465834G>A	ENST00000200457.4	+	3	702	c.342G>A	c.(340-342)gcG>gcA	p.A114A		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	114					focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					GGGGTCATGCGTCACGGCGAC	0.662													A	100465834	G	A	100465834	2	1	521	1	0	0	0	0	0	0	0	1	16660	1132	40	1		1	TRIP6	7	100465834	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	56368383	100465834	58672829	33	46656											
LRRC4	64101	broad.mit.edu	37	chr7	127668930	127668930	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccctcacctgatacaccGgacggagctgctgttgctgc	6	8	11	16	2	1	1	1	1	0	0	1	3	1	3	4	2	5	4	4	2	1	2	rs139849197		TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr7:127668930G>C	ENST00000249363.3	-	2	2021	c.1764C>G	c.(1762-1764)tcC>tcG	p.S588S	SND1_ENST00000354725.3_Intron	NM_022143.4	NP_071426.1	Q9HBW1	LRRC4_HUMAN	leucine rich repeat containing 4	588						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(6)|lung(4)|pancreas(1)|skin(2)	26				Lung(243;0.124)		CTGATACACCGGACGGAgctg	0.547													C	127668930	G	C	127668930	2	2	521	1	0	0	0	0	0	0	0	1	9067	1103	39	4		4	LRRC4	7	127668930	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	27203096	127668930	31469733	34	46657											
PSD3	23362	broad.mit.edu	37	chr8	18729531	18729531	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcgatcacatcccccTgggtgctctctcccaagagc	6	10	8	17	1	2	1	1	0	1	1	6	2	4	1	3	1	3	2	3	1	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:18729531T>A	ENST00000440756.2	-	3	945	c.843A>T	c.(841-843)ccA>ccT	p.P281P	PSD3_ENST00000327040.8_Silent_p.P281P|PSD3_ENST00000523619.1_Silent_p.P216P			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	281					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		CACATCCCCCTGGGTGCTCTC	0.567													A	18729531	T	A	18729531	2	1	521	1	0	0	0	0	0	0	0	1	12733	1567	55	5		5	PSD3	8	18729531	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08		18729531	127634491	35	46658											
FUT10	84750	broad.mit.edu	37	chr8	33246920	33246920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggcatccatagaggctggaTttttcagctgctgagggagg	8	10	15	8	1	1	2	1	1	0	1	2	4	2	4	1	5	2	4	1	5	1	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:33246920T>C	ENST00000327671.5	-	4	1404	c.773A>G	c.(772-774)aAt>aGt	p.N258S	FUT10_ENST00000335589.3_Missense_Mutation_p.N196S|FUT10_ENST00000518672.1_Missense_Mutation_p.N230S|FUT10_ENST00000518076.1_5'UTR|FUT10_ENST00000524021.1_Missense_Mutation_p.N230S	NM_032664.3	NP_116053.3	Q6P4F1	FUT10_HUMAN	fucosyltransferase 10 (alpha (1,3) fucosyltransferase)	258					embryo development|fertilization|hemopoiesis|L-fucose catabolic process|nervous system development|protein folding|protein glycosylation|protein targeting|wound healing	Golgi cisterna membrane|integral to membrane	alpha(1,3)-fucosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(7)|liver(1)|lung(9)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|upper_aerodigestive_tract(2)	29				KIRC - Kidney renal clear cell carcinoma(67;0.129)|Kidney(114;0.154)		AGAGGCTGGATTTTTCAGCTG	0.438													C	33246920	T	C	33246920	3	2	521	1	0	0	0	0	1	0	0	0	6154	1493	52	3	674	3	FUT10	8	33246920	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	14517389	33246920	113117102	36	46659											
ADAM2	2515	broad.mit.edu	37	chr8	39624672	39624672	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttttcaaaaagctcttacTagacagttttcgcagcatgg	12	14	7	8	1	2	1	1	0	1	1	3	1	2	1	0	1	3	4	0	1	4	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:39624672T>C	ENST00000265708.4	-	13	1414	c.1311A>G	c.(1309-1311)ctA>ctG	p.L437L	ADAM2_ENST00000379853.2_Splice_Site_p.L311L|ADAM2_ENST00000347580.4_Splice_Site_p.L418L|ADAM2_ENST00000521880.1_Splice_Site_p.L437L	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	437	Disintegrin.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		AAGCTCTTACTAGACAGTTTT	0.343													C	39624672	T	C	39624672	5	2	521	1	0	0	0	0	0	0	1	0	241	1536	53	3	928	3	ADAM2	8	39624672	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08	6377752	39624672	106739350	37	46660											
DPYS	1807	broad.mit.edu	37	chr8	105459580	105459580	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtctccattttccgcaTggacctgggcaattgctcca	8	13	8	12	1	1	0	0	0	1	0	4	1	3	1	4	2	1	3	4	2	2	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:105459580T>A	ENST00000351513.2	-	3	707	c.575A>T	c.(574-576)cAt>cTt	p.H192L		NM_001385.2	NP_001376.1	Q14117	DPYS_HUMAN	dihydropyrimidinase	192					protein homotetramerization|pyrimidine nucleoside catabolic process|thymine catabolic process|uracil catabolic process	cytosol	dihydropyrimidinase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(57;1.61e-06)|STAD - Stomach adenocarcinoma(118;0.229)			ATTTTCCGCATGGACCTGGGC	0.453													A	105459580	T	A	105459580	3	1	521	1	0	0	0	0	1	0	0	0	4785	1464	51	5	1012	5	DPYS	8	105459580	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08	65834908	105459580	40904442	38	46661											
CSMD3	114788	broad.mit.edu	37	chr8	113347659	113347659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgattccaaagcggtattgCcactgaactgaccgatctga	11	10	9	11	2	1	4	0	4	1	0	2	5	2	4	3	1	3	1	3	1	3	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr8:113347659C>T	ENST00000297405.5	-	45	7308	c.7064G>A	c.(7063-7065)gGc>gAc	p.G2355D	CSMD3_ENST00000352409.3_Missense_Mutation_p.G2285D|CSMD3_ENST00000455883.2_Missense_Mutation_p.G2251D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2315D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2355	CUB 13.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AGCGGTATTGCCACTGAACTG	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113347659	C	T	113347659	3	4	521	1	0	0	0	0	1	0	0	0	3979	739	26	2	4167	2	CSMD3	8	113347659	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	7888079	113347659	33016363	39	46662											
CDC14B	8555	broad.mit.edu	37	chr9	99296298	99296298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtaggggtgctgccatccGcaaagaaaagatcatggtga	13	7	13	8	1	1	3	1	1	0	2	2	3	2	3	2	3	2	3	2	3	4	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:99296298G>A	ENST00000375241.1	-	9	1308	c.857C>T	c.(856-858)gCg>gTg	p.A286V	CDC14B_ENST00000375236.1_Missense_Mutation_p.A286V|CDC14B_ENST00000265659.2_Missense_Mutation_p.A286V|CDC14B_ENST00000375242.3_Missense_Mutation_p.A249V|CDC14B_ENST00000463569.1_Missense_Mutation_p.A286V|CDC14B_ENST00000375240.3_Missense_Mutation_p.A286V	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	286	B.				activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				GCTGCCATCCGCAAAGAAAAG	0.413													A	99296298	G	A	99296298	3	1	521	1	0	0	0	0	1	0	0	0	3087	1087	38	1	663	1	CDC14B	9	99296298	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		99296298	41917133	40	46663											
FPGS	2356	broad.mit.edu	37	chr9	130569293	130569293	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgggagcggatccgcatcaAtgggcagcccatcagtcctg	8	7	13	13	3	2	0	2	0	0	0	5	2	4	2	3	3	2	2	3	3	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:130569293A>G	ENST00000373245.1	+	5	478	c.428A>G	c.(427-429)aAt>aGt	p.N143S	FPGS_ENST00000373225.3_Missense_Mutation_p.N93S|FPGS_ENST00000393706.2_Missense_Mutation_p.N143S|FPGS_ENST00000373247.2_Missense_Mutation_p.N143S|FPGS_ENST00000460181.1_3'UTR			Q05932	FOLC_HUMAN	folylpolyglutamate synthase	143					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	ATCCGCATCAATGGGCAGCCC	0.657													G	130569293	A	G	130569293	3	3	521	1	0	0	0	0	1	0	0	0	6087	101	4	3	446	3	FPGS	9	130569293	Missense_Mutation	SNP	A	TCGA-HT-7477-01B-11D-A289-08	31272995	130569293	10644138	41	46664											
ZER1	10444	broad.mit.edu	37	chr9	131503855	131503855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgccgttgaaattgaGgaacatctcgcagttgtcag	10	12	10	9	2	3	2	2	2	1	0	4	3	3	3	1	1	2	3	1	1	2	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr9:131503855G>A	ENST00000291900.2	-	11	2102	c.1696C>T	c.(1696-1698)Ctc>Ttc	p.L566F		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	566					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						TTGAAATTGAGGAACATCTCG	0.567													A	131503855	G	A	131503855	3	1	521	1	0	0	0	0	1	0	0	0	17726	1000	35	2	628	2	ZER1	9	131503855	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	934562	131503855	9709576	42	46665											
PLAC9	219348	broad.mit.edu	37	chr10	81901857	81901857	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgaacccttcagcccTccgcgaggagactcagctca	8	6	10	17	3	3	1	3	0	0	1	4	4	4	1	4	1	4	2	4	1	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr10:81901857T>A	ENST00000372263.3	+	2	126	c.84T>A	c.(82-84)ccT>ccA	p.P28P	PLAC9_ENST00000372270.2_5'UTR|PLAC9_ENST00000372267.2_Silent_p.P28P	NM_001012973.1	NP_001012991.1	Q5JTB6	PLAC9_HUMAN	placenta-specific 9	28						extracellular region				kidney(1)|ovary(1)	2	Prostate(51;0.0095)|all_epithelial(25;0.175)		Colorectal(32;0.109)			CCTTCAGCCCTCCGCGAGGAG	0.532													A	81901857	T	A	81901857	2	1	521	1	0	0	0	0	0	0	0	1	12094	1538	54	5		5	PLAC9	10	81901857	Silent	SNP	T	TCGA-HT-7477-01B-11D-A289-08		81901857	53632890	43	46666											
OR51D1	390038	broad.mit.edu	37	chr11	4661741	4661741	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgtgggctgttttggagCtgtcctctcggagggcagca	4	12	15	10	1	1	0	0	0	1	0	4	2	3	2	2	4	2	5	2	4	0	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:4661741C>A	ENST00000357605.2	+	1	797	c.721C>A	c.(721-723)Ctg>Atg	p.L241M		NM_001004751.2	NP_001004751.1	Q8NGF3	O51D1_HUMAN	olfactory receptor, family 51, subfamily D, member 1	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|liver(2)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	27		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;2.74e-13)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|GBM - Glioblastoma multiforme(2;0.0841)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGTTTTGGAGCTGTCCTCTCG	0.512													A	4661741	C	A	4661741	3	1	521	1	0	0	0	0	1	0	0	0	11169	796	28	4	723	4	OR51D1	11	4661741	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		4661741	130344775	44	46667											
OR4S2	219431	broad.mit.edu	37	chr11	55419308	55419308	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttttcttggaggctaaagGgaaatagttggacttaataa	13	14	11	3	0	1	0	0	0	1	0	1	3	1	3	0	4	0	3	0	4	6	8			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:55419308G>T	ENST00000312422.2	+	1	929	c.929G>T	c.(928-930)gGg>gTg	p.G310V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				GAGGCTAAAGGGAAATAGTTG	0.363													T	55419308	G	T	55419308	3	4	521	1	0	0	0	0	1	0	0	0	11159	1232	43	4	931	4	OR4S2	11	55419308	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50757567	55419308	79587208	45	46668											
FAT3	120114	broad.mit.edu	37	chr11	92624025	92624025	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccaacgaaacggatttgGtgggcccgcctgccagctgt	7	8	12	14	3	0	0	0	0	0	0	1	2	1	1	5	3	4	1	5	3	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr11:92624025G>T	ENST00000298047.6	+	27	13533	c.13516G>T	c.(13516-13518)Gtg>Ttg	p.V4506L	FAT3_ENST00000489716.1_3'UTR|FAT3_ENST00000409404.2_Missense_Mutation_p.V4474L|FAT3_ENST00000533797.1_Missense_Mutation_p.V809L|FAT3_ENST00000525166.1_Missense_Mutation_p.V4356L			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4506	Pro-rich.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AACGGATTTGGTGGGCCCGCC	0.582										TCGA Ovarian(4;0.039)			T	92624025	G	T	92624025	3	4	521	1	0	0	0	0	1	0	0	0	5740	1261	44	4	13518	4	FAT3	11	92624025	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	37204717	92624025	42382491	46	46669											
PRMT8	56341	broad.mit.edu	37	chr12	3649787	3649787	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtgaacagcccccccTcccagcccccccagcccgtc	6	4	7	24	1	1	1	1	1	0	0	3	1	2	1	8	1	4	0	8	1	1	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr12:3649787T>C	ENST00000382622.3	+	2	481	c.91T>C	c.(91-93)Tcc>Ccc	p.S31P	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.S22P	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	31					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CAGCCCCCCCTCCCAGCCCCC	0.652													C	3649787	T	C	3649787	3	2	521	1	0	0	0	0	1	0	0	0	12628	1551	54	3	97	3	PRMT8	12	3649787	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		3649787	130202108	47	46670											
TUBGCP3	10426	broad.mit.edu	37	chr13	113181323	113181323	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgggagtctgatcatgacaAacttggtgcaagaaatttat	13	12	11	5	0	2	3	1	2	1	1	2	4	2	4	0	2	2	1	0	2	4	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr13:113181323A>C	ENST00000261965.3	-	13	1674	c.1488T>G	c.(1486-1488)gtT>gtG	p.V496V	TUBGCP3_ENST00000375669.3_Silent_p.V496V|TUBGCP3_ENST00000462580.1_5'UTR	NM_006322.4	NP_006313.1	Q96CW5	GCP3_HUMAN	tubulin, gamma complex associated protein 3	496					G2/M transition of mitotic cell cycle|microtubule nucleation|single fertilization	centriole|cytosol|polar microtubule	gamma-tubulin binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(9)|prostate(3)|urinary_tract(1)	25	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)					GATCATGACAAACTTGGTGCA	0.398													C	113181323	A	C	113181323	2	2	521	1	0	0	0	0	0	0	0	1	16869	1	1	5		5	TUBGCP3	13	113181323	Silent	SNP	A	TCGA-HT-7477-01B-11D-A289-08		113181323	1988555	48	46671											
DLGAP5	9787	broad.mit.edu	37	chr14	55643912	55643912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaaatccttaggtgcaaagGaattcttcccttttattttt	11	18	5	7	0	1	0	0	0	1	0	3	1	3	1	2	2	1	1	2	2	6	8			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr14:55643912G>A	ENST00000247191.2	-	8	1133	c.917C>T	c.(916-918)tCc>tTc	p.S306F	DLGAP5_ENST00000395425.2_Missense_Mutation_p.S306F	NM_014750.4	NP_055565.3	Q15398	DLGP5_HUMAN	discs, large (Drosophila) homolog-associated protein 5	306					cell proliferation|cell-cell signaling|mitotic chromosome movement towards spindle pole|positive regulation of mitotic metaphase/anaphase transition	nucleus|spindle pole centrosome	phosphoprotein phosphatase activity|protein binding			biliary_tract(1)|breast(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	44						AGGTGCAAAGGAATTCTTCCC	0.383													A	55643912	G	A	55643912	3	1	521	1	0	0	0	0	1	0	0	0	4602	1174	41	2	1766	2	DLGAP5	14	55643912	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		55643912	51705628	49	46672											
RYR3	6263	broad.mit.edu	37	chr15	34040420	34040420	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaagctttggttcaacagCgggaaaatgagaagcttcga	14	8	13	6	2	1	2	1	1	0	2	2	6	1	3	0	2	4	3	0	2	5	3			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:34040420C>T	ENST00000389232.4	+	54	8165	c.8095C>T	c.(8095-8097)Cgg>Tgg	p.R2699W	RYR3_ENST00000415757.3_Missense_Mutation_p.R2699W	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2699	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGTTCAACAGCGGGAAAATGA	0.567													T	34040420	C	T	34040420	3	4	521	1	0	0	0	0	1	0	0	0	13861	759	27	1	8309	1	RYR3	15	34040420	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08		34040420	68490972	50	46673											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	8	7	13	13	1	2	0	1	0	1	0	3	1	3	1	3	3	3	4	3	3	3	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													A	90775542	C	A	90775542	3	1	521	1	0	0	0	0	1	0	0	0	3450	478	17	4	491	4	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	56735122	90775542	11755850	51	46674											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	521	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7477-01B-11D-A289-08		7578394	73616816	52	46675											
MYO15A	51168	broad.mit.edu	37	chr17	18022907	18022907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaccctacctggcgggcctcGgcccctacagcccggcctgg	5	5	12	19	3	0	0	0	0	0	0	1	0	0	0	7	5	4	0	7	5	3	2			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:18022907G>A	ENST00000205890.5	+	2	1131	c.793G>A	c.(793-795)Ggc>Agc	p.G265S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	265	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GGCGGGCCTCGGCCCCTACAG	0.652													A	18022907	G	A	18022907	3	1	521	1	0	0	0	0	1	0	0	0	10139	1116	39	1	795	1	MYO15A	17	18022907	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	10444513	18022907	63172303	53	46676											
VEZF1	7716	broad.mit.edu	37	chr17	56060673	56060673	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaagcaatggtttctgatCagggggctccacggcagagc	9	8	15	9	1	2	2	1	1	1	1	3	3	3	3	1	5	2	4	1	5	2	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:56060673C>G	ENST00000584396.1	-	2	176	c.88G>C	c.(88-90)Gat>Cat	p.D30H	VEZF1_ENST00000581208.1_Missense_Mutation_p.D39H			Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	39					cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						GGTTTCTGATCAGGGGGCTCC	0.473													G	56060673	C	G	56060673	3	3	521	1	0	0	0	0	1	0	0	0	17257	826	29	4	1470	4	VEZF1	17	56060673	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	38037766	56060673	25134537	54	46677											
DNAI2	64446	broad.mit.edu	37	chr17	72301394	72301394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggaccgagcagggcatcGtcatctcctgcaaccgcaag	9	6	13	13	3	2	0	1	0	1	0	4	2	2	1	3	3	3	4	3	3	2	0			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr17:72301394G>A	ENST00000579490.1	+	8	1330	c.1195G>A	c.(1195-1197)Gtc>Atc	p.V399I	DNAI2_ENST00000307504.5_Missense_Mutation_p.V199I|DNAI2_ENST00000582036.1_Missense_Mutation_p.V342I|DNAI2_ENST00000311014.6_Missense_Mutation_p.V342I|DNAI2_ENST00000446837.2_Missense_Mutation_p.V342I			Q9GZS0	DNAI2_HUMAN	dynein, axonemal, intermediate chain 2	342					cilium assembly	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(2)|lung(19)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCAGGGCATCGTCATCTCCTG	0.577									Kartagener syndrome				A	72301394	G	A	72301394	3	1	521	1	0	0	0	0	1	0	0	0	4649	1145	40	1	1054	1	DNAI2	17	72301394	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08	16240721	72301394	8893816	55	46678											
CD97	976	broad.mit.edu	37	chr19	14517251	14517251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctactttcttgtggtgcgcGtgttccaaggccagggcctg	4	13	13	11	2	2	0	0	0	2	0	3	0	3	0	3	3	2	1	3	3	2	4			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:14517251G>A	ENST00000242786.5	+	15	2010	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	CD97_ENST00000358600.3_Missense_Mutation_p.V551M|CD97_ENST00000357355.3_Missense_Mutation_p.V595M|CTC-548K16.5_ENST00000590626.1_RNA	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	644					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						TGTGGTGCGCGTGTTCCAAGG	0.652											OREG0025312	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14517251	G	A	14517251	3	1	521	1	0	0	0	0	1	0	0	0	3079	1145	40	1	1988	1	CD97	19	14517251	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		14517251	44611732	56	46679											
NUDT19	390916	broad.mit.edu	37	chr19	33183087	33183087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcggccgaccgctcggCggactggctgggcctcttcg	3	7	17	14	6	1	0	0	0	1	0	3	3	1	2	3	6	1	2	3	6	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:33183087C>T	ENST00000397061.3	+	1	221	c.221C>T	c.(220-222)gCg>gTg	p.A74V		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	74	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GACCGCTCGGCGGACTGGCTG	0.751													T	33183087	C	T	33183087	3	4	521	1	0	0	0	0	1	0	0	0	10812	768	27	1	223	1	NUDT19	19	33183087	Missense_Mutation	SNP	C	TCGA-HT-7477-01B-11D-A289-08	18665836	33183087	25945896	57	46680											
LILRB1	10859	broad.mit.edu	37	chr19	55143156	55143157	+	Frame_Shift_Del	DEL	TG	TG	-																															ccatccatcacctgggaacaTgcagggcggtatcgctgtta																								rs12462774	by1000genomes	TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr19:55143156_55143157delTG	ENST00000396331.1	+	5	633_634	c.276_277delTG	c.(274-279)catgcafs	p.A93fs	LILRB1_ENST00000396321.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396315.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396332.4_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000434867.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396327.3_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000448689.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000396317.1_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000418536.2_Frame_Shift_Del_p.A93fs|LILRB1_ENST00000427581.2_Frame_Shift_Del_p.A129fs|LILRB1_ENST00000324602.7_Frame_Shift_Del_p.A93fs	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	93	Ig-like C2-type 1.		A -> T (in dbSNP:rs12460501).		regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CCTGGGAACATGCAGGGCGGTA	0.554										HNSCC(37;0.09)			-	55143157	TG	-	55143156	7	5	521	1	0	1	0	1	0	0	0	0	8850	1461	51	0	286	0	LILRB1	19	55143156	Frame_Shift_Del	DEL	TG	TCGA-HT-7477-01B-11D-A289-08	21960069	55143156	3985827	58	46681											
SPATA2	9825	broad.mit.edu	37	chr20	48523042	48523042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttctggagtgccactcgtGacatggaggccgtcaggtgc	7	9	14	11	2	2	1	1	1	1	0	3	3	2	3	2	4	2	0	2	4	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr20:48523042G>A	ENST00000422556.1	-	3	1026	c.677C>T	c.(676-678)tCa>tTa	p.S226L	SPATA2_ENST00000289431.5_Missense_Mutation_p.S226L|SPATA2_ENST00000543716.1_Missense_Mutation_p.S89L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	226					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			TGCCACTCGTGACATGGAGGC	0.672													A	48523042	G	A	48523042	3	1	521	1	0	0	0	0	1	0	0	0	15101	1294	45	2	889	2	SPATA2	20	48523042	Missense_Mutation	SNP	G	TCGA-HT-7477-01B-11D-A289-08		48523042	14502478	59	46682											
SCUBE1	80274	broad.mit.edu	37	chr22	43606074	43606074	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctcatgaccagaacatcGccgcactcatcctcgatggg	9	9	8	15	3	2	2	2	1	0	1	6	3	4	2	4	1	1	1	4	1	1	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chr22:43606074G>A	ENST00000360835.4	-	19	2682	c.2556C>T	c.(2554-2556)ggC>ggT	p.G852G		NM_173050.3	NP_766638.2	Q8IWY4	SCUB1_HUMAN	signal peptide, CUB domain, EGF-like 1		CUB.				adult heart development|blood coagulation|endothelial cell differentiation|inflammatory response|post-embryonic development|protein homooligomerization	external side of plasma membrane|extracellular space|extrinsic to plasma membrane	calcium ion binding|identical protein binding|protein heterodimerization activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(4)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31		all_neural(38;0.0414)|Ovarian(80;0.07)				CCAGAACATCGCCGCACTCAT	0.632													A	43606074	G	A	43606074	2	1	521	1	0	0	0	0	0	0	0	1	14037	1074	38	1		1	SCUBE1	22	43606074	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08		43606074	7698492	60	46683											
ATRX	546	broad.mit.edu	37	chrX	76940500	76940500	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtaatacttaaagcaattcTattaaaagaaaagaggaagg	20	10	8	3	0	1	2	0	0	1	2	1	3	1	3	0	2	2	2	0	2	11	6			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:76940500T>G	ENST00000373344.5	-	8	809		c.e8-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AAAGCAATTCTATTAAAAGAA	0.294			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76940500	T	G	76940500	5	3	521	1	0	0	0	0	0	0	1	0	1213	1536	53	5	6997	5	ATRX	23	76940500	Splice_Site	SNP	T	TCGA-HT-7477-01B-11D-A289-08		76940500	78330060	61	46684											
ACTRT1	139741	broad.mit.edu	37	chrX	127185376	127185376	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttgagagtcctgggctgtgGatgcccagctggtcaggtgc	5	11	16	9	0	1	1	1	1	0	1	2	3	2	2	2	4	3	2	2	4	0	1			TCGA-HT-7477-01B-11D-A289-08	TCGA-HT-7477-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c150f7-c19e-4f15-b67f-67af9eb7f46c	60866491-f68b-4adc-9d4e-3d5241788660	g.chrX:127185376G>T	ENST00000371124.3	-	1	1006	c.810C>A	c.(808-810)atC>atA	p.I270I		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	270						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						CTGGGCTGTGGATGCCCAGCT	0.512													T	127185376	G	T	127185376	2	4	521	1	0	0	0	0	0	0	0	1	218	1164	41	4		4	ACTRT1	23	127185376	Silent	SNP	G	TCGA-HT-7477-01B-11D-A289-08	50244876	127185376	28085184	62	46685											
TNFRSF14	8764	broad.mit.edu	37	chr1	2492072	2492072	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttctcaggcaccgagaGtcaggacaccctgtgtcaga	9	9	10	13	1	4	2	3	0	2	2	6	4	4	3	2	2	0	1	2	2	0	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:2492072G>T	ENST00000355716.4	+	5	769	c.470G>T	c.(469-471)aGt>aTt	p.S157I	TNFRSF14_ENST00000409119.1_Missense_Mutation_p.S157I	NM_003820.2	NP_003811.2	Q92956	TNR14_HUMAN	tumor necrosis factor receptor superfamily, member 14	157					immune response|interspecies interaction between organisms|T cell costimulation		tumor necrosis factor receptor activity			kidney(1)	1	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;1.11e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.000326)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.199)		GGCACCGAGAGTCAGGACACC	0.632			"Mis, N, F"		follicular lymphoma								T	2492072	G	T	2492072	3	4	522	1	0	0	0	0	1	0	0	0	16389	1029	36	4	488	4	TNFRSF14	1	2492072	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		2492072	246758549	1	46686											
MTOR	2475	broad.mit.edu	37	chr1	11184641	11184641	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcacacgctcatcctggcgCagatcttcatggccttttag	8	12	8	13	2	4	1	3	0	1	1	5	1	5	1	2	2	0	2	2	2	1	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:11184641C>T	ENST00000361445.4	-	47	6652	c.6576G>A	c.(6574-6576)ctG>ctA	p.L2192L	MTOR_ENST00000376838.1_Silent_p.L397L	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2192	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						CATCCTGGCGCAGATCTTCAT	0.507													T	11184641	C	T	11184641	2	4	522	1	0	0	0	0	0	0	0	1	10030	697	25	2		2	MTOR	1	11184641	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08	8692569	11184641	238065980	2	46687											
SPATA6	54558	broad.mit.edu	37	chr1	48771507	48771507	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctctacataaaagacttCttttcagttccagttcatca	12	15	4	10	0	5	1	3	0	2	1	7	1	6	1	1	0	1	2	1	0	3	7			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:48771507C>G	ENST00000371847.3	-	12	1402	c.1238G>C	c.(1237-1239)aGa>aCa	p.R413T	SPATA6_ENST00000371843.3_Missense_Mutation_p.R397T|SPATA6_ENST00000396199.3_Missense_Mutation_p.R341T	NM_019073.2	NP_061946.1	Q9NWH7	SPAT6_HUMAN	spermatogenesis associated 6	413					cell differentiation|multicellular organismal development|spermatogenesis	extracellular region				breast(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	21						TAAAAGACTTCTTTTCAGTTC	0.353													G	48771507	C	G	48771507	3	3	522	1	0	0	0	0	1	0	0	0	15109	913	32	4	236	4	SPATA6	1	48771507	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	37586866	48771507	200479114	3	46688											
PLA2G4A	5321	broad.mit.edu	37	chr1	186946833	186946833	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggagtgctatgtctttaaaCccaagaatcctgatatggag	13	11	10	7	0	1	2	0	1	1	1	2	4	2	4	2	2	2	1	2	2	6	4			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr1:186946833C>G	ENST00000367466.3	+	16	2025	c.1873C>G	c.(1873-1875)Ccc>Gcc	p.P625A	PLA2G4A_ENST00000442353.2_Missense_Mutation_p.P565A	NM_024420.2	NP_077734	P47712	PA24A_HUMAN	phospholipase A2, group IVA (cytosolic, calcium-dependent)	625	PLA2c.				phospholipid catabolic process|platelet activating factor biosynthetic process|platelet activation	cytosol|endoplasmic reticulum membrane	calcium ion binding|calcium-dependent phospholipid binding|lysophospholipase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(22)|ovary(1)|prostate(3)|skin(4)|stomach(1)	53					Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Medrysone(DB00253)|Quinacrine(DB01103)	TGTCTTTAAACCCAAGAATCC	0.443													G	186946833	C	G	186946833	3	3	522	1	0	0	0	0	1	0	0	0	12078	507	18	4	1931	4	PLA2G4A	1	186946833	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	138175326	186946833	62303788	4	46689											
GREB1	9687	broad.mit.edu	37	chr2	11728938	11728938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagccccctcttgtacaCgtgctaccagaattcccagt	8	10	8	15	1	2	1	1	0	1	1	3	1	3	1	4	1	4	2	4	1	3	4	rs151098036	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:11728938C>T	ENST00000381486.2	+	10	1526	c.1226C>T	c.(1225-1227)aCg>aTg	p.T409M	GREB1_ENST00000234142.5_Missense_Mutation_p.T409M|GREB1_ENST00000381483.2_Missense_Mutation_p.T409M	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	409						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CTCTTGTACACGTGCTACCAG	0.592													T	11728938	C	T	11728938	3	4	522	1	0	0	0	0	1	0	0	0	6815	536	19	1	1335	1	GREB1	2	11728938	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		11728938	231470435	5	46690											
FSHR	2492	broad.mit.edu	37	chr2	49190307	49190307	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccgcactgtgaggtagatGtggatatagcagccacagat	11	10	12	8	1	0	3	0	1	0	2	1	4	1	4	2	2	2	3	2	2	3	4			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:49190307G>T	ENST00000406846.2	-	10	1772	c.1653C>A	c.(1651-1653)caC>caA	p.H551Q	FSHR_ENST00000541117.1_Missense_Mutation_p.H287Q|FSHR_ENST00000304421.4_Missense_Mutation_p.H525Q|FSHR_ENST00000346173.3_Missense_Mutation_p.H489Q	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	551					female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)	TGAGGTAGATGTGGATATAGC	0.527									Gonadal Dysgenesis, 46 XX				T	49190307	G	T	49190307	3	4	522	1	0	0	0	0	1	0	0	0	6125	1368	48	4	438	4	FSHR	2	49190307	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	37461369	49190307	194009066	6	46691											
BAZ2B	29994	broad.mit.edu	37	chr2	160295595	160295595	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttcttcaatactttgatcTtcttcttcttcatcttcttc	5	23	1	12	0	9	1	2	1	7	0	10	1	9	1	0	0	1	0	0	0	2	10			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:160295595T>A	ENST00000392783.2	-	7	1320	c.825A>T	c.(823-825)gaA>gaT	p.E275D	BAZ2B_ENST00000355831.2_Missense_Mutation_p.E275D|BAZ2B_ENST00000343439.5_Missense_Mutation_p.E273D|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E273D	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	275	Poly-Glu.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TACTTTGAtcttcttcttctt	0.363													A	160295595	T	A	160295595	3	1	522	1	0	0	0	0	1	0	0	0	1337	1606	56	5	5805	5	BAZ2B	2	160295595	Missense_Mutation	SNP	T	TCGA-HT-7478-01A-11D-2024-08	111105288	160295595	82903778	7	46692											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	522	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	48817517	209113112	34086261	8	46693											
CXCR2	3579	broad.mit.edu	37	chr2	219000407	219000407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgcaatcacatcgaccggGctctggatgccaccgagatt	9	7	11	14	4	2	1	1	0	1	1	3	4	2	2	4	2	1	2	4	2	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:219000407G>C	ENST00000318507.2	+	3	1310	c.883G>C	c.(883-885)Gct>Cct	p.A295P		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	295					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						CATCGACCGGGCTCTGGATGC	0.592													C	219000407	G	C	219000407	3	2	522	1	0	0	0	0	1	0	0	0	4124	1203	42	4	885	4	CXCR2	2	219000407	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	9887295	219000407	24198966	9	46694											
UGT1A6	54578	broad.mit.edu	37	chr2	234602275	234602275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgactttttcccaacgaGtggccaacttccttgttaat	10	14	6	11	1	0	1	0	1	0	0	2	2	2	1	3	1	2	1	3	1	3	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr2:234602275G>C	ENST00000305139.6	+	1	764	c.625G>C	c.(625-627)Gtg>Ctg	p.V209L	UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000480628.1_Intron|AC114812.8_ENST00000439336.1_RNA|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Intron	NM_001072.3	NP_001063.2														central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(86;0.000765)|all_lung(227;0.00267)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0457)|Lung SC(224;0.128)		Epithelial(121;5.86e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000384)|Lung(119;0.00306)|LUSC - Lung squamous cell carcinoma(224;0.00702)		TTCCCAACGAGTGGCCAACTT	0.448													C	234602275	G	C	234602275	3	2	522	1	0	0	0	0	1	0	0	0	17051	1029	36	4	627	4	UGT1A6	2	234602275	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08	15601868	234602275	8597098	10	46695											
CEP97	79598	broad.mit.edu	37	chr3	101447686	101447686	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ttttcttgtgataggccatgGaacagatcaatagctgcaca	12	12	9	8	0	2	2	1	1	1	1	2	3	2	3	1	2	3	2	1	2	4	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:101447686G>C	ENST00000341893.3	+	4	1104	c.352G>C	c.(352-354)Gaa>Caa	p.E118Q	CEP97_ENST00000494050.1_Missense_Mutation_p.E118Q|CEP97_ENST00000327230.4_Missense_Mutation_p.E118Q			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	118						centrosome|nucleus	protein binding	p.E118K(1)		cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						ATAGGCCATGGAACAGATCAA	0.353													C	101447686	G	C	101447686	3	2	522	1	0	0	0	0	1	0	0	0	3293	1175	41	4	366	4	CEP97	3	101447686	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		101447686	96574744	11	46696											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178952085	A	T	178952085	3	4	522	1	0	0	0	0	1	0	0	0	11990	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	77504399	178952085	19070345	12	46697											
PDGFRA	5156	broad.mit.edu	37	chr4	55152105	55152105	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagagacatcatgcatgAttcgaactatgtgtcgaaag	13	9	11	8	2	1	2	1	1	0	1	3	5	1	2	1	1	2	1	1	1	3	2	rs121913268		TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr4:55152105A>G	ENST00000257290.5	+	18	2868	c.2537A>G	c.(2536-2538)gAt>gGt	p.D846G	FIP1L1_ENST00000507166.1_Missense_Mutation_p.D606G	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	846	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.I843_D846del(11)|p.I843_S847>T(3)|p.M844_S847del(2)|p.D842_D846>E(2)|p.D842_D846>S(1)|p.D842_S847>EA(1)|p.D842_D846>G(1)|p.H845_N848>P(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	ATCATGCATGATTCGAACTAT	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G	55152105	A	G	55152105	3	3	522	1	0	0	0	0	1	0	0	0	11737	333	12	3	2603	3	PDGFRA	4	55152105	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		55152105	136002171	13	46698											
STC2	8614	broad.mit.edu	37	chr5	172750382	172750382	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatgcagccgaacctgtGccgcagagcgtgggccttac	7	8	13	13	3	0	1	0	0	0	1	0	2	0	1	4	1	6	3	4	1	3	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr5:172750382G>T	ENST00000265087.4	-	3	1655	c.346C>A	c.(346-348)Cac>Aac	p.H116N	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	116					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CCGAACCTGTGCCGCAGAGCG	0.592													T	172750382	G	T	172750382	3	4	522	1	0	0	0	0	1	0	0	0	15372	1319	46	4	570	4	STC2	5	172750382	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		172750382	8164878	14	46699											
PRDM13	59336	broad.mit.edu	37	chr6	100062262	100062262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtggcaagctgtactcgcGcaagtatgggctcaagatcc	9	9	12	11	2	1	1	1	0	0	1	3	1	2	1	1	2	2	6	1	2	5	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr6:100062262G>A	ENST00000369215.4	+	4	2056	c.1751G>A	c.(1750-1752)cGc>cAc	p.R584H		NM_021620.3	NP_067633.2	Q9H4Q3	PRD13_HUMAN	PR domain containing 13	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(1)	17		all_cancers(76;1.64e-05)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0128)|Colorectal(196;0.069)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0598)		CTGTACTCGCGCAAGTATGGG	0.662													A	100062262	G	A	100062262	3	1	522	1	0	0	0	0	1	0	0	0	12540	1087	38	1	1765	1	PRDM13	6	100062262	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		100062262	71052805	15	46700											
TRIM35	23087	broad.mit.edu	37	chr8	27145295	27145295	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatggccaggaccaggggCgacgtggctgggtccgaggt	6	5	21	9	3	0	0	0	0	0	0	1	4	1	2	3	8	0	1	3	8	0	0			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr8:27145295C>T	ENST00000305364.4	-	6	1337	c.1254G>A	c.(1252-1254)tcG>tcA	p.S418S	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	418	B30.2/SPRY.				apoptosis|induction of apoptosis|negative regulation of mitotic cell cycle	cytoplasm|nucleus	zinc ion binding			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		GGACCAGGGGCGACGTGGCTG	0.667													T	27145295	C	T	27145295	2	4	522	1	0	0	0	0	0	0	0	1	16610	755	27	1		1	TRIM35	8	27145295	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		27145295	119218727	16	46701											
MYO3A	53904	broad.mit.edu	37	chr10	26241102	26241102	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgatccttctgatacatgGgaaatcactgagacaattgg	12	11	9	9	0	2	3	1	3	1	1	3	5	3	4	2	2	1	0	2	2	3	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr10:26241102G>C	ENST00000265944.5	+	3	229	c.63G>C	c.(61-63)tgG>tgC	p.W21C	MYO3A_ENST00000376302.1_Missense_Mutation_p.W21C|MYO3A_ENST00000543632.1_Missense_Mutation_p.W21C|MYO3A_ENST00000376301.1_Missense_Mutation_p.W21C	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	21	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CTGATACATGGGAAATCACTG	0.328													C	26241102	G	C	26241102	3	2	522	1	0	0	0	0	1	0	0	0	10152	1241	43	4	65	4	MYO3A	10	26241102	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		26241102	109293645	17	46702											
OR5T3	390154	broad.mit.edu	37	chr11	56020656	56020656	+	Frame_Shift_Del	DEL	A	A	-																															agtttgaggaacaaagaagtAaaaaaggcagtgaagaaaat																										TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:56020656delA	ENST00000303059.3	+	1	981	c.981delA	c.(979-981)gtafs	p.V327fs		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	327					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					ACAAAGAAGTAAAAAAGGCAG	0.323													-	56020656	A	-	56020656	7	5	522	1	0	1	0	1	0	0	0	0	11259	349	13	0	983	0	OR5T3	11	56020656	Frame_Shift_Del	DEL	A	TCGA-HT-7478-01A-11D-2024-08		56020656	78985860	18	46703											
TYR	7299	broad.mit.edu	37	chr11	88911234	88911234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaatgctgtccacCgtggagcggggacaggagtc	10	5	18	8	2	0	1	0	0	0	1	2	6	1	5	2	6	2	1	2	6	2	0			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr11:88911234C>T	ENST00000263321.5	+	1	615	c.113C>T	c.(112-114)cCg>cTg	p.P38L	TYR_ENST00000526139.1_3'UTR	NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	38					eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	TGCTGTCCACCGTGGAGCGGG	0.547													T	88911234	C	T	88911234	3	4	522	1	0	0	0	0	1	0	0	0	16915	652	23	1	115	1	TYR	11	88911234	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	32890578	88911234	46095282	19	46704											
TEAD4	7004	broad.mit.edu	37	chr12	3129912	3129912	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atgttggagttctctgccttCctggagcagcagcaggaccc	7	10	12	12	0	1	0	0	0	1	0	3	3	2	3	3	3	4	5	3	3	0	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr12:3129912C>T	ENST00000359864.2	+	9	886	c.696C>T	c.(694-696)ttC>ttT	p.F232F	TEAD4_ENST00000397122.2_Silent_p.F103F|TEAD4_ENST00000358409.2_Silent_p.F189F	NM_003213.3	NP_003204	Q15561	TEAD4_HUMAN	TEA domain family member 4	232					hippo signaling cascade|muscle organ development|skeletal system development		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(4)|upper_aerodigestive_tract(1)	10	Ovarian(42;0.211)		OV - Ovarian serous cystadenocarcinoma(31;0.000563)|COAD - Colon adenocarcinoma(12;0.0831)			TCTCTGCCTTCCTGGAGCAGC	0.682													T	3129912	C	T	3129912	2	4	522	1	0	0	0	0	0	0	0	1	15841	854	30	2		2	TEAD4	12	3129912	Silent	SNP	C	TCGA-HT-7478-01A-11D-2024-08		3129912	130721983	20	46705											
RAB15	376267	broad.mit.edu	37	chr14	65417123	65417123	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggatcttctggacgccttCtggtgcgtactagggacaaa	10	10	12	9	2	3	0	0	0	3	0	3	3	3	3	1	4	2	1	1	4	4	4			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr14:65417123C>G	ENST00000533601.2	-	5	671	c.334G>C	c.(334-336)Gaa>Caa	p.E112Q	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|RAB15_ENST00000426039.3_Missense_Mutation_p.E66Q|RAB15_ENST00000267512.5_Missense_Mutation_p.Q155H|RAB15_ENST00000436278.2_3'UTR|CHURC1-FNTB_ENST00000549987.1_Intron			P59190	RAB15_HUMAN	RAB15, member RAS oncogene family	112					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	8				all cancers(60;0.00136)|OV - Ovarian serous cystadenocarcinoma(108;0.00593)|BRCA - Breast invasive adenocarcinoma(234;0.0102)		TGGACGCCTTCTGGTGCGTAC	0.567													G	65417123	C	G	65417123	3	3	522	1	0	0	0	0	1	0	0	0	12989	912	32	4	173	4	RAB15	14	65417123	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		65417123	41932417	21	46706											
UNC13C	440279	broad.mit.edu	37	chr15	54306802	54306802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagaagatttttcagaaaatCagtttttcactagaactaat	16	14	5	6	0	3	4	3	0	0	4	3	4	3	4	0	0	1	1	0	0	6	6			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr15:54306802C>T	ENST00000545554.1	+	1	1702	c.1702C>T	c.(1702-1704)Cag>Tag	p.Q568*	UNC13C_ENST00000537900.1_Nonsense_Mutation_p.Q568*|UNC13C_ENST00000260323.11_Nonsense_Mutation_p.Q568*			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	568					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		TTCAGAAAATCAGTTTTTCAC	0.428													T	54306802	C	T	54306802	4	4	522	1	0	0	0	0	0	1	0	0	17088	827	29	2	1704	2	UNC13C	15	54306802	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		54306802	48224590	22	46707											
GNAO1	2775	broad.mit.edu	37	chr16	56388962	56388962	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctccggggctgcggcttgtaCtgacctcttgtcctgtatag	4	13	12	12	2	1	1	0	1	1	0	3	1	3	1	3	3	2	4	3	3	3	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr16:56388962C>G	ENST00000262493.6	+	8	1908	c.1062C>G	c.(1060-1062)taC>taG	p.Y354*		NM_020988.2	NP_066268.1	P09471	GNAO_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide O	354					dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|muscle contraction	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)	17		all_neural(199;0.159)				GCGGCTTGTACTGACCTCTTG	0.527													G	56388962	C	G	56388962	4	3	522	1	0	0	0	0	0	1	0	0	6564	576	20	4	1442	4	GNAO1	16	56388962	Nonsense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		56388962	33965791	23	46708											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	522	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08		7577120	73618090	24	46709											
GFAP	2670	broad.mit.edu	37	chr17	42987529	42987529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcgagccggcggcgttccaTttacaatctggtgagcctgt	6	10	13	12	5	1	1	0	1	1	0	2	2	2	1	3	3	3	1	3	3	2	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr17:42987529T>C	ENST00000435360.2	-	8	1278	c.1271A>G	c.(1270-1272)aAt>aGt	p.N424S	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000253408.5_Intron	NM_001131019.2|NM_001242376.1	NP_001124491.1|NP_001229305.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	0	Tail.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				CGGCGTTCCATTTACAATCTG	0.547													C	42987529	T	C	42987529	3	2	522	1	0	0	0	0	1	0	0	0	6393	1493	52	3	164	3	GFAP	17	42987529	Missense_Mutation	SNP	T	TCGA-HT-7478-01A-11D-2024-08	35410409	42987529	38207681	25	46710											
MEP1B	4225	broad.mit.edu	37	chr18	29787227	29787227	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttaggcagagagcacaAttttaacacctatagtgacg	13	11	8	9	1	0	2	0	1	0	1	1	3	1	2	2	1	2	2	2	1	5	6			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr18:29787227A>G	ENST00000269202.6	+	8	607	c.560A>G	c.(559-561)aAt>aGt	p.N187S	MEP1B_ENST00000581447.1_Missense_Mutation_p.N187S	NM_005925.2	NP_005916.2	Q16820	MEP1B_HUMAN	meprin A, beta	187	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane	metalloendopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						AGAGAGCACAATTTTAACACC	0.333													G	29787227	A	G	29787227	3	3	522	1	0	0	0	0	1	0	0	0	9551	101	4	3	590	3	MEP1B	18	29787227	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08		29787227	48290021	26	46711											
FSD1	79187	broad.mit.edu	37	chr19	4318904	4318904	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaggatgccctcaggtcGtgggggacgggaccgcttca	8	6	16	11	3	2	1	2	0	0	1	3	4	2	4	2	5	1	1	2	5	1	1			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:4318904G>A	ENST00000221856.6	+	10	1142	c.995G>A	c.(994-996)cGt>cAt	p.R332H	FSD1_ENST00000598010.1_3'UTR|FSD1_ENST00000597590.1_Missense_Mutation_p.R332H	NM_024333.2	NP_077309.1	Q9BTV5	FSD1_HUMAN	fibronectin type III and SPRY domain containing 1	332	B30.2/SPRY.				cell division|mitosis	cleavage furrow|microtubule|microtubule organizing center|nucleus				breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.034)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCTCAGGTCGTGGGGGACGG	0.597													A	4318904	G	A	4318904	3	1	522	1	0	0	0	0	1	0	0	0	6122	1145	40	1	1033	1	FSD1	19	4318904	Missense_Mutation	SNP	G	TCGA-HT-7478-01A-11D-2024-08		4318904	54810079	27	46712											
C19orf66	55337	broad.mit.edu	37	chr19	10202008	10202008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggctgagttccactgccCgaagtgtcggcacaacttcc	7	9	10	15	2	0	1	0	1	0	0	3	2	2	1	4	2	2	3	4	2	2	2			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:10202008C>T	ENST00000397881.3	+	6	791	c.314C>T	c.(313-315)cCg>cTg	p.P105L	C19orf66_ENST00000591813.1_Missense_Mutation_p.P156L|C19orf66_ENST00000253110.11_Missense_Mutation_p.P156L			Q9NUL5	CS066_HUMAN	chromosome 19 open reading frame 66	156										large_intestine(3)|skin(1)	4						TTCCACTGCCCGAAGTGTCGG	0.692													T	10202008	C	T	10202008	3	4	522	1	0	0	0	0	1	0	0	0	1965	652	23	1	489	1	C19orf66	19	10202008	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	5883104	10202008	48926975	28	46713											
NLRP11	204801	broad.mit.edu	37	chr19	56321528	56321528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctctctctcccatcaggaAcacattgagattgtttgctg	8	14	8	11	0	3	1	1	1	2	1	5	3	3	2	1	1	3	3	1	1	1	3			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56321528A>G	ENST00000443188.1	-	5	1158	c.448T>C	c.(448-450)Ttc>Ctc	p.F150L	NLRP11_ENST00000360133.3_Missense_Mutation_p.F150L|NLRP11_ENST00000592953.1_Missense_Mutation_p.F51L|NLRP11_ENST00000589824.2_Missense_Mutation_p.F150L|NLRP11_ENST00000589093.1_Missense_Mutation_p.F150L	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	150	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCCATCAGGAACACATTGAGA	0.388													G	56321528	A	G	56321528	3	3	522	1	0	0	0	0	1	0	0	0	10549	43	2	3	2685	3	NLRP11	19	56321528	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	46119520	56321528	2807455	29	46714											
ZSCAN5A	79149	broad.mit.edu	37	chr19	56736304	56736304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaaatctcagggtccaCgtcgtgatttccaagttgag	10	11	12	8	2	1	3	1	3	1	1	5	4	3	3	2	1	0	1	2	1	2	2	rs145104621	byFrequency	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chr19:56736304C>T	ENST00000587340.1	-	4	807	c.112G>A	c.(112-114)Gtg>Atg	p.V38M	ZSCAN5A_ENST00000254165.3_Intron|ZSCAN5A_ENST00000587492.1_Intron|ZSCAN5A_ENST00000391713.1_Missense_Mutation_p.V38M|ZSCAN5A_ENST00000592355.1_Missense_Mutation_p.V38M			Q9BUG6	ZSA5A_HUMAN	zinc finger and SCAN domain containing 5A	38					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(1)|lung(12)|ovary(1)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TCAGGGTCCACGTCGTGATTT	0.532													T	56736304	C	T	56736304	3	4	522	1	0	0	0	0	1	0	0	0	18335	536	19	1	1394	1	ZSCAN5A	19	56736304	Missense_Mutation	SNP	C	TCGA-HT-7478-01A-11D-2024-08	414776	56736304	2392679	30	46715											
RLIM	51132	broad.mit.edu	37	chrX	73811938	73811938	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcattatctgccttaacatGgtctgaattgcaacagatgt	11	14	8	8	0	3	2	1	1	2	1	3	2	3	2	1	1	4	1	1	1	4	3	rs61754468	by1000genomes	TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:73811938G>C	ENST00000332687.6	-	4	1430	c.1212C>G	c.(1210-1212)acC>acG	p.T404T	RLIM_ENST00000349225.2_Silent_p.T404T	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	404					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding	p.T404T(6)		breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCTTAACATGGTCTGAATTG	0.413													C	73811938	G	C	73811938	2	2	522	1	0	0	0	0	0	0	0	1	13481	1335	47	4		4	RLIM	23	73811938	Silent	SNP	G	TCGA-HT-7478-01A-11D-2024-08		73811938	81458622	31	46716											
ATRX	546	broad.mit.edu	37	chrX	76813082	76813082	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagacagtgactgcttagttActtgccgatcataaatctta	13	13	7	8	1	2	2	1	1	1	1	2	3	2	2	1	0	3	2	1	0	6	5			TCGA-HT-7478-01A-11D-2024-08	TCGA-HT-7478-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ded8014c-bb43-4e2b-af8e-0975936031c3	ceb62f6b-8044-4a7b-97f9-da9ad10c8021	g.chrX:76813082A>G	ENST00000373344.5	-	30	6753	c.6539T>C	c.(6538-6540)gTa>gCa	p.V2180A	ATRX_ENST00000395603.3_Missense_Mutation_p.V2142A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2180	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)	CTGCTTAGTTACTTGCCGATC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76813082	A	G	76813082	3	3	522	1	0	0	0	0	1	0	0	0	1213	391	14	3	963	3	ATRX	23	76813082	Missense_Mutation	SNP	A	TCGA-HT-7478-01A-11D-2024-08	3001144	76813082	78457478	32	46717											
PLCH2	9651	broad.mit.edu	37	chr1	2415924	2415924	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaccaagggacgctgggttTtgaagagttctgtgccttct	7	12	12	10	1	2	2	0	1	2	1	2	3	2	3	3	2	1	3	3	2	2	4			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:2415924T>G	ENST00000449969.1	+	5	763	c.602T>G	c.(601-603)tTt>tGt	p.F201C	PLCH2_ENST00000378488.3_Missense_Mutation_p.F228C|PLCH2_ENST00000378486.3_Missense_Mutation_p.F228C|PLCH2_ENST00000419816.2_Missense_Mutation_p.F228C|PLCH2_ENST00000288766.5_Intron			O75038	PLCH2_HUMAN	phospholipase C, eta 2	228	EF-hand 1.				intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		ACGCTGGGTTTTGAAGAGTTC	0.602													G	2415924	T	G	2415924	3	3	523	1	0	0	0	0	1	0	0	0	12115	1841	64	5	701	5	PLCH2	1	2415924	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08		2415924	246834697	1	46718											
OR6K2	81448	broad.mit.edu	37	chr1	158670418	158670418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagataaactcctgaaTggtggttcgattggggctct	10	11	14	6	1	1	3	0	1	1	2	3	5	2	3	1	5	1	2	1	5	4	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr1:158670418T>C	ENST00000359610.2	-	1	68	c.25A>G	c.(25-27)Att>Gtt	p.I9V		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	9					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AACTCCTGAATGGTGGTTCGA	0.433													C	158670418	T	C	158670418	3	2	523	1	0	0	0	0	1	0	0	0	11278	1464	51	3	953	3	OR6K2	1	158670418	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	156254494	158670418	90580203	2	46719											
MYT1L	23040	broad.mit.edu	37	chr2	1906994	1906994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttggccaggttggaacgCggcgtagttgtggggacatt	6	11	16	8	3	0	0	0	0	0	0	1	2	1	2	2	6	1	3	2	6	2	5			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:1906994C>T	ENST00000399161.2	-	14	2637	c.1890G>A	c.(1888-1890)ccG>ccA	p.P630P	MYT1L_ENST00000428368.2_Silent_p.P628P	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	630					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GGTTGGAACGCGGCGTAGTTG	0.468													T	1906994	C	T	1906994	2	4	523	1	0	0	0	0	0	0	0	1	10183	755	27	1		1	MYT1L	2	1906994	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08		1906994	241292379	3	46720											
ZNF638	27332	broad.mit.edu	37	chr2	71576853	71576853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgttcccaatccaaatGtgatatgtaattctatgttt	11	17	5	8	0	2	1	0	1	2	0	4	1	4	1	2	0	0	3	2	0	5	6			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:71576853G>A	ENST00000409544.1	+	2	1399	c.769G>A	c.(769-771)Gtg>Atg	p.V257M	ZNF638_ENST00000377802.2_Missense_Mutation_p.V257M|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.V257M|ZNF638_ENST00000355812.3_Missense_Mutation_p.V257M	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	257					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAATCCAAATGTGATATGTAA	0.408													A	71576853	G	A	71576853	3	1	523	1	0	0	0	0	1	0	0	0	18156	1377	48	2	771	2	ZNF638	2	71576853	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	69669859	71576853	171622520	4	46721											
MOGS	7841	broad.mit.edu	37	chr2	74688527	74688527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtagcctggtactggcGccatacattgcctaccacgt	7	10	10	14	2	0	0	0	0	0	0	0	0	0	0	5	2	5	2	5	2	4	5			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:74688527G>A	ENST00000233616.4	-	4	2551	c.2389C>T	c.(2389-2391)Cgc>Tgc	p.R797C	MOGS_ENST00000452063.2_Missense_Mutation_p.R691C|MOGS_ENST00000409065.1_3'UTR	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	797					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						TGGTACTGGCGCCATACATTG	0.622													A	74688527	G	A	74688527	3	1	523	1	0	0	0	0	1	0	0	0	9773	1087	38	1	128	1	MOGS	2	74688527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	3111674	74688527	168510846	5	46722											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	523	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08	134424586	209113113	34086260	6	46723											
CASR	846	broad.mit.edu	37	chr3	122003874	122003874	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggggaaacggacttagatCtgaccgtccaggaaacaggt	12	6	14	9	3	1	2	0	1	1	1	2	5	2	5	2	5	2	0	2	5	3	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr3:122003874C>A	ENST00000498619.1	+	7	3541	c.3103C>A	c.(3103-3105)Ctg>Atg	p.L1035M	CASR_ENST00000490131.1_Missense_Mutation_p.L1025M|CASR_ENST00000296154.5_Missense_Mutation_p.L1025M	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	1025					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	GGACTTAGATCTGACCGTCCA	0.592													A	122003874	C	A	122003874	3	1	523	1	0	0	0	0	1	0	0	0	2708	912	32	4	3125	4	CASR	3	122003874	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		122003874	76018556	7	46724											
PDGFRA	5156	broad.mit.edu	37	chr4	55152040	55152040	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatctggctgctcgcaacgtCctcctggcacaaggaaaaat	11	8	10	12	2	1	0	0	0	1	0	4	2	3	1	2	3	2	4	2	3	4	0	rs2228230	byFrequency	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:55152040C>T	ENST00000257290.5	+	18	2803	c.2472C>T	c.(2470-2472)gtC>gtT	p.V824V	FIP1L1_ENST00000507166.1_Silent_p.V584V	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	824	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.V824V(15)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	CTCGCAACGTCCTCCTGGCAC	0.498			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55152040	C	T	55152040	2	4	523	1	0	0	0	0	0	0	0	1	11737	842	30	2		2	PDGFRA	4	55152040	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08		55152040	136002236	8	46725											
FRAS1	80144	broad.mit.edu	37	chr4	79428637	79428637	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaccgggaatggcatgaaTctttctcactagtccttggc	10	11	10	10	1	2	2	1	1	2	1	4	3	3	3	2	3	0	1	2	3	4	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr4:79428637T>C	ENST00000264895.6	+	62	9819	c.9379T>C	c.(9379-9381)Tct>Cct	p.S3127P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3122	Calx-beta 5.				cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCATGAATCTTTCTCACT	0.488													C	79428637	T	C	79428637	3	2	523	1	0	0	0	0	1	0	0	0	6093	1435	50	3	9700	3	FRAS1	4	79428637	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	24276597	79428637	111725639	9	46726											
PCDHGB3	56102	broad.mit.edu	37	chr5	140750527	140750527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaggagaacctggatggcaGtaggtacccagagctagtac	13	6	14	8	0	0	2	0	0	0	2	0	5	0	3	2	4	4	5	2	4	6	4			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:140750527G>T	ENST00000576222.1	+	1	697	c.566G>T	c.(565-567)aGt>aTt	p.S189I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018924.2|NM_032097.1	NP_061747.1|NP_115268.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGATGGCAGTAGGTACCCA	0.557													T	140750527	G	T	140750527	3	4	523	1	0	0	0	0	1	0	0	0	11640	1029	36	4	568	4	PCDHGB3	5	140750527	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		140750527	40164733	10	46727											
ZNF300	91975	broad.mit.edu	37	chr5	150275093	150275093	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtctttccccagtatgaaTcctctgatgtaaaacaaggt	11	12	9	9	0	2	2	0	2	2	0	4	2	4	2	3	2	1	2	3	2	5	3			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr5:150275093T>A	ENST00000446148.2	-	7	2183	c.1756A>T	c.(1756-1758)Att>Ttt	p.I586F	ZNF300_ENST00000418587.2_Missense_Mutation_p.I534F|ZNF300_ENST00000274599.5_Missense_Mutation_p.I570F|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Missense_Mutation_p.I570F	NM_001172831.1	NP_001166302.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	570					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCAGTATGAATCCTCTGATGT	0.438													A	150275093	T	A	150275093	3	1	523	1	0	0	0	0	1	0	0	0	17932	1435	50	5	110	5	ZNF300	5	150275093	Missense_Mutation	SNP	T	TCGA-HT-7479-01A-11D-2024-08	9524566	150275093	30640167	11	46728											
RREB1	6239	broad.mit.edu	37	chr6	7229937	7229937	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacgcccagcaggcttccccGggctgtatcagccccagcct	7	6	10	18	2	1	0	1	0	0	0	2	0	2	0	6	2	4	4	6	2	2	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr6:7229937G>T	ENST00000379938.2	+	10	2142	c.1605G>T	c.(1603-1605)ccG>ccT	p.P535P	RREB1_ENST00000349384.6_Silent_p.P535P|RREB1_ENST00000334984.6_Silent_p.P535P|RREB1_ENST00000379933.3_Silent_p.P535P	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	535	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGCTTCCCCGGGCTGTATCA	0.682													T	7229937	G	T	7229937	2	4	523	1	0	0	0	0	0	0	0	1	13770	1103	39	4		4	RREB1	6	7229937	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08		7229937	163885130	12	46729											
TIGD5	84948	broad.mit.edu	37	chr8	144681130	144681130	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagctgcctgcagcagaagGccgtgctgctggtggcccac	7	6	15	13	1	0	1	0	0	0	1	0	2	0	1	3	3	6	5	3	3	2	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr8:144681130G>T	ENST00000504548.2	+	1	1057	c.1057G>T	c.(1057-1059)Gcc>Tcc	p.A353S	TIGD5_ENST00000321385.3_Missense_Mutation_p.A304S	NM_032862.4	NP_116251.4	E7EWS2	E7EWS2_HUMAN	tigger transposable element derived 5	353					regulation of transcription, DNA-dependent	chromosome, centromeric region	DNA binding			NS(1)|lung(3)|ovary(1)|soft_tissue(1)|urinary_tract(1)	7	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			GCAGCAGAAGGCCGTGCTGCT	0.701													T	144681130	G	T	144681130	3	4	523	1	0	0	0	0	1	0	0	0	15999	1203	42	4	1059	4	TIGD5	8	144681130	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		144681130	1682892	13	46730											
TUBB8	347688	broad.mit.edu	37	chr10	93136	93136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatccatgccctcgcccGtgtaccagtggaggaaggcc	7	8	11	15	2	1	0	1	0	1	0	4	2	2	2	5	3	2	1	5	3	2	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr10:93136G>A	ENST00000447903.2	-	4	1295	c.980C>T	c.(979-981)aCg>aTg	p.T327M	TUBB8_ENST00000309812.4_Missense_Mutation_p.T399M			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	399					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		GCCCTCGCCCGTGTACCAGTG	0.532													A	93136	G	A	93136	3	1	523	1	0	0	0	0	1	0	0	0	16863	1145	40	1	142	1	TUBB8	10	93136	Missense_Mutation	SNP	G	TCGA-HT-7479-01A-11D-2024-08		93136	135441611	14	46731											
OCA2	4948	broad.mit.edu	37	chr15	28171297	28171297	+	Frame_Shift_Del	DEL	A	A	-																															atcagaacaaagagcgctgcAaaaaacagaagggttgccca																										TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr15:28171297delA	ENST00000354638.3	-	19	2210	c.2055delT	c.(2053-2055)tttfs	p.F685fs	OCA2_ENST00000353809.5_Frame_Shift_Del_p.F661fs	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	685					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		AGAGCGCTGCAAAAAACAGAA	0.363									Oculocutaneous Albinism				-	28171297	A	-	28171297	7	5	523	1	0	1	0	1	0	0	0	0	10891	127	5	0	485	0	OCA2	15	28171297	Frame_Shift_Del	DEL	A	TCGA-HT-7479-01A-11D-2024-08		28171297	74360095	15	46732											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			T	7578413	C	T	7578413	3	4	523	1	0	0	0	0	1	0	0	0	16482	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		7578413	73616797	16	46733											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274491	39274491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctcacagcagctggggCggcagcaggtctcctggcag	6	7	16	12	1	2	0	1	0	2	0	4	0	2	0	1	6	3	5	1	6	0	0	rs113376601	by1000genomes	TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39274491C>T	ENST00000391413.2	-	1	115	c.77G>A	c.(76-78)cGc>cAc	p.R26H		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	26	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GCAGCTGGGGCGGCAGCAGGT	0.627													T	39274491	C	T	39274491	3	4	523	1	0	0	0	0	1	0	0	0	8608	768	27	1	514	1	KRTAP4-11	17	39274491	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	31696078	39274491	41920719	17	46734											
KRT38	8687	broad.mit.edu	37	chr17	39596991	39596991	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaggctggggcggcccagGggagtggaccccacacggac	8	2	18	13	2	0	1	0	0	0	1	0	4	0	4	3	8	0	1	3	8	0	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:39596991G>A	ENST00000246646.3	-	1	182	c.183C>T	c.(181-183)ccC>ccT	p.P61P		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	61	Head.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				GGCGGCCCAGGGGAGTGGACC	0.637													A	39596991	G	A	39596991	2	1	523	1	0	0	0	0	0	0	0	1	8533	1219	43	2		2	KRT38	17	39596991	Silent	SNP	G	TCGA-HT-7479-01A-11D-2024-08	322500	39596991	41598219	18	46735											
TTYH2	94015	broad.mit.edu	37	chr17	72233513	72233513	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatctttgctgcccggggCgattacctgcagaccctgaa	8	9	12	12	2	1	3	0	1	1	2	1	5	1	3	3	2	4	2	3	2	2	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72233513C>T	ENST00000269346.4	+	4	569	c.495C>T	c.(493-495)ggC>ggT	p.G165G	TTYH2_ENST00000529107.1_Silent_p.G144G	NM_032646.5	NP_116035.5	Q9BSA4	TTYH2_HUMAN	tweety family member 2	165						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						CTGCCCGGGGCGATTACCTGC	0.597													T	72233513	C	T	72233513	2	4	523	1	0	0	0	0	0	0	0	1	16842	755	27	1		1	TTYH2	17	72233513	Silent	SNP	C	TCGA-HT-7479-01A-11D-2024-08	32636522	72233513	8961697	19	46736											
OTOP2	92736	broad.mit.edu	37	chr17	72923807	72923807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacctggccatctggatggCggccgtggtggatgaatctg	7	9	15	10	2	2	1	0	1	2	0	2	3	2	3	3	6	1	0	3	6	2	0			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr17:72923807C>A	ENST00000331427.4	+	5	649	c.557C>A	c.(556-558)gCg>gAg	p.A186E	OTOP2_ENST00000580223.1_Missense_Mutation_p.A186E	NM_178160.2	NP_835454.1	Q7RTS6	OTOP2_HUMAN	otopetrin 2	186						integral to membrane		p.A186V(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|prostate(4)|skin(1)|urinary_tract(2)	39	all_lung(278;0.172)|Lung NSC(278;0.207)					ATCTGGATGGCGGCCGTGGTG	0.577													A	72923807	C	A	72923807	3	1	523	1	0	0	0	0	1	0	0	0	11382	768	27	4	571	4	OTOP2	17	72923807	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08	690294	72923807	8271403	20	46737											
PLVAP	83483	broad.mit.edu	37	chr19	17487967	17487967	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccatagaccatgaagagcAcgagccccaggatgatgagg	13	5	13	10	1	0	5	0	3	0	2	0	7	0	6	4	2	3	1	4	2	2	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:17487967A>G	ENST00000252590.4	-	1	192	c.131T>C	c.(130-132)gTg>gCg	p.V44A		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	44						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CATGAAGAGCACGAGCCCCAG	0.612													G	17487967	A	G	17487967	3	3	523	1	0	0	0	0	1	0	0	0	12193	159	6	3	1221	3	PLVAP	19	17487967	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		17487967	41641016	21	46738											
ZNF320	162967	broad.mit.edu	37	chr19	53384195	53384195	+	Frame_Shift_Del	DEL	C	C	-																															atgcgaggtacgcttttgtaCtaaaaaccttgccacattca																										TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr19:53384195delC	ENST00000595635.1	-	8	1685	c.1184delG	c.(1183-1185)agtfs	p.S395fs	ZNF320_ENST00000597909.1_Intron|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000391781.2_Frame_Shift_Del_p.S395fs	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		CGCTTTTGTACTAAAAACCTT	0.403													-	53384195	C	-	53384195	7	5	523	1	0	1	0	1	0	0	0	0	17940	565	20	0	349	0	ZNF320	19	53384195	Frame_Shift_Del	DEL	C	TCGA-HT-7479-01A-11D-2024-08	35896228	53384195	5744788	22	46739											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032549	46032549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaagcccatctgctgtgtgCctgtctgctctggggcttcc	3	12	12	14	0	3	0	0	0	3	0	4	0	4	0	3	2	4	4	3	2	1	1			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr21:46032549C>T	ENST00000334662.2	+	1	554	c.532C>T	c.(532-534)Cct>Tct	p.P178S	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	178	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CTGCTGTGTGCCTGTCTGCTC	0.622													T	46032549	C	T	46032549	3	4	523	1	0	0	0	0	1	0	0	0	8573	739	26	2	534	2	KRTAP10-8	21	46032549	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		46032549	2097346	23	46740											
ASPHD2	57168	broad.mit.edu	37	chr22	26829961	26829961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcctcaaccagaagctgtAccacaacctgcaggagtacg	12	5	11	13	1	1	1	1	0	0	1	1	2	1	2	4	2	6	4	4	2	5	2			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chr22:26829961A>G	ENST00000215906.5	+	2	818	c.380A>G	c.(379-381)tAc>tGc	p.Y127C		NM_020437.4	NP_065170.2	Q6ICH7	ASPH2_HUMAN	aspartate beta-hydroxylase domain containing 2	127					peptidyl-amino acid modification	integral to endoplasmic reticulum membrane	oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(4)|urinary_tract(1)	16						CAGAAGCTGTACCACAACCTG	0.652													G	26829961	A	G	26829961	3	3	523	1	0	0	0	0	1	0	0	0	1060	391	14	3	382	3	ASPHD2	22	26829961	Missense_Mutation	SNP	A	TCGA-HT-7479-01A-11D-2024-08		26829961	24474605	24	46741											
FAM47A	158724	broad.mit.edu	37	chrX	34149060	34149060	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agttttcttcacccgggcctCacaacgatcccatacgtcct	8	11	6	16	3	3	0	2	0	1	0	5	1	5	0	4	1	2	1	4	1	2	4			TCGA-HT-7479-01A-11D-2024-08	TCGA-HT-7479-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d45da2a7-4b4f-4194-80c1-2b26ceb2f769	bc1d4a60-ad52-4534-9e2f-b5a5208c66a1	g.chrX:34149060C>G	ENST00000346193.3	-	1	1387	c.1336G>C	c.(1336-1338)Gag>Cag	p.E446Q		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	446										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						ACCCGGGCCTCACAACGATCC	0.557													G	34149060	C	G	34149060	3	3	523	1	0	0	0	0	1	0	0	0	5620	835	29	4	1043	4	FAM47A	23	34149060	Missense_Mutation	SNP	C	TCGA-HT-7479-01A-11D-2024-08		34149060	121121500	25	46742											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907458	12907458	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtctcatctttcttcaTggagctactgctctgctcct	6	16	7	12	0	5	1	2	1	4	0	7	2	6	2	1	1	4	3	1	1	1	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:12907458T>C	ENST00000317869.6	-	2	910	c.685A>G	c.(685-687)Atg>Gtg	p.M229V		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TCTTTCTTCATGGAGCTACTG	0.458													C	12907458	T	C	12907458	3	2	524	1	0	0	0	0	1	0	0	0	7318	1464	51	3	198	3	HNRNPCL1	1	12907458	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		12907458	236343163	1	46743											
PEF1	553115	broad.mit.edu	37	chr1	32101082	32101082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccagggtagtagctaccCggaggggctcctggtgcttg	5	9	17	10	1	0	0	0	0	0	0	2	1	2	1	3	6	3	5	3	6	3	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:32101082C>T	ENST00000373703.4	-	2	88	c.66G>A	c.(64-66)ccG>ccA	p.P22P	PEF1_ENST00000440872.2_Silent_p.P22P|PEF1_ENST00000492061.1_5'UTR	NM_012392.3	NP_036524.1	Q9UBV8	PEF1_HUMAN	penta-EF-hand domain containing 1	22	9 X 9 AA approximate tandem repeat of [AP]-P-G-G-P-Y-G-G-P-P.				response to calcium ion	cytoplasm|membrane	calcium ion binding|protein heterodimerization activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(2)|upper_aerodigestive_tract(1)	7		Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)|all_neural(195;0.186)		STAD - Stomach adenocarcinoma(196;0.0546)		AGTAGCTACCCGGAGGGGCTC	0.597													T	32101082	C	T	32101082	2	4	524	1	0	0	0	0	0	0	0	1	11794	639	23	1		1	PEF1	1	32101082	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	19193624	32101082	217149539	2	46744											
NPR1	4881	broad.mit.edu	37	chr1	153655965	153655965	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatgtggctttgacaaCgaagacccagcatgcaacca	14	6	8	13	1	0	2	0	1	0	1	0	3	0	2	3	1	4	3	3	1	4	1	rs142090901	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:153655965C>T	ENST00000368680.3	+	6	1849	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	459					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity	p.N459N(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCTTTGACAACGAAGACCCAG	0.587													T	153655965	C	T	153655965	2	4	524	1	0	0	0	0	0	0	0	1	10670	535	19	1		1	NPR1	1	153655965	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08	121554883	153655965	95594656	3	46745											
CD244	51744	broad.mit.edu	37	chr1	160811091	160811091	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtatatgtgtgagtGccattaatgtcaacctcctc	9	14	9	9	0	1	1	1	1	0	0	3	1	2	1	3	1	3	2	3	1	4	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:160811091G>A	ENST00000368034.4	-	3	741	c.564C>T	c.(562-564)ggC>ggT	p.G188G	CD244_ENST00000368032.2_Silent_p.G188G|CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Silent_p.G193G	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	193	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			ATGTGTGAGTGCCATTAATGT	0.517													A	160811091	G	A	160811091	2	1	524	1	0	0	0	0	0	0	0	1	3017	1306	46	2		2	CD244	1	160811091	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	7155126	160811091	88439530	4	46746											
SLC26A9	115019	broad.mit.edu	37	chr1	205897099	205897099	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagccaggttgatgacgtaGctcacgatggctagggagaa	12	8	14	7	2	1	3	1	2	0	1	1	5	1	3	1	3	2	4	1	3	4	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr1:205897099G>A	ENST00000367135.3	-	9	1145	c.1032C>T	c.(1030-1032)agC>agT	p.S344S	SLC26A9_ENST00000367134.2_Silent_p.S344S|SLC26A9_ENST00000340781.4_Silent_p.S344S	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	344						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			TGATGACGTAGCTCACGATGG	0.632													A	205897099	G	A	205897099	2	1	524	1	0	0	0	0	0	0	0	1	14618	962	34	2		2	SLC26A9	1	205897099	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	45086008	205897099	43353522	5	46747											
TMEM17	200728	broad.mit.edu	37	chr2	62733243	62733243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtttcccagccgctggcGcaccggatccggcagctcca	7	6	12	16	4	0	0	0	0	0	0	3	2	3	1	5	3	2	5	5	3	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:62733243G>A	ENST00000335390.5	-	1	233	c.22C>T	c.(22-24)Cgc>Tgc	p.R8C		NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17	8						integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			AGCCGCTGGCGCACCGGATCC	0.672													A	62733243	G	A	62733243	3	1	524	1	0	0	0	0	1	0	0	0	16185	1087	38	1	590	1	TMEM17	2	62733243	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		62733243	180466130	6	46748											
AFTPH	54812	broad.mit.edu	37	chr2	64779134	64779134	+	Frame_Shift_Del	DEL	C	C	-																															agagctgcaatggtgaaaagCctccttgtctggagattcta																										TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:64779134delC	ENST00000422803.1	+	2	840	c.526delC	c.(526-528)cctfs	p.P177fs	AFTPH_ENST00000409933.1_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238856.4_Frame_Shift_Del_p.P177fs|AFTPH_ENST00000238855.7_Frame_Shift_Del_p.P177fs			Q6ULP2	AFTIN_HUMAN	aftiphilin	177					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGTGAAAAGCCTCCTTGTCT	0.403													-	64779134	C	-	64779134	7	5	524	1	0	1	0	1	0	0	0	0	364	739	26	0	528	0	AFTPH	2	64779134	Frame_Shift_Del	DEL	C	TCGA-HT-7480-01A-11D-2086-08	2045891	64779134	178420239	7	46749											
MCM6	4175	broad.mit.edu	37	chr2	136626216	136626216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaatcttgatttatttgtatCcagtaagaatctcctcctgt	11	17	5	8	0	2	2	0	1	2	1	5	2	4	2	3	0	0	2	3	0	5	6			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr2:136626216C>A	ENST00000264156.2	-	4	640	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_005915.5	NP_005906.2	Q14566	MCM6_HUMAN	minichromosome maintenance complex component 6	194					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	MCM complex	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(15)|prostate(2)|skin(1)	29				BRCA - Breast invasive adenocarcinoma(221;0.166)	Atorvastatin(DB01076)	TTATTTGTATCCAGTAAGAAT	0.373													A	136626216	C	A	136626216	3	1	524	1	0	0	0	0	1	0	0	0	9466	855	30	4	1941	4	MCM6	2	136626216	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	71847082	136626216	106573157	8	46750											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	524	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	72486896	209113112	34086261	9	46751											
TLR9	54106	broad.mit.edu	37	chr3	52255381	52255381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggcggcagaggcgctggCgcagccgcacgtagcgggag	6	4	19	12	6	1	1	0	0	1	1	1	2	1	2	1	5	2	5	1	5	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr3:52255381C>A	ENST00000597542.1	-	9	3980	c.3023G>T	c.(3022-3024)cGc>cTc	p.R1008L	TLR9_ENST00000494383.1_Silent_p.A1137A|TLR9_ENST00000360658.2_Missense_Mutation_p.R984L			Q9NR96	TLR9_HUMAN	toll-like receptor 9	984	TIR.				defense response to bacterium|fibroblast growth factor receptor signaling pathway|I-kappaB phosphorylation|inflammatory response|innate immune response|insulin receptor signaling pathway|maintenance of gastrointestinal epithelium|negative regulation of interleukin-6 production|negative regulation of interleukin-8 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of toll-like receptor signaling pathway|positive regulation of chemokine production|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-18 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|response to molecule of bacterial origin	apical plasma membrane|basolateral plasma membrane|early phagosome|endoplasmic reticulum membrane|endosome membrane|extracellular region|integral to membrane|lysosome	interleukin-1 receptor binding|siRNA binding|transmembrane receptor activity			endometrium(4)|large_intestine(11)|lung(9)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;2.41e-05)|Kidney(197;0.000537)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Chloroquine(DB00608)	GAGGCGCTGGCGCAGCCGCAC	0.706													A	52255381	C	A	52255381	3	1	524	1	0	0	0	0	1	0	0	0	16058	768	27	4	151	4	TLR9	3	52255381	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		52255381	145767049	10	46752											
DKK2	27123	broad.mit.edu	37	chr4	107956682	107956682	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgatctgtgagctctccaCcatcagcaccgcggccagta	8	7	10	16	3	3	1	1	1	2	0	4	2	3	1	5	1	2	3	5	1	1	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr4:107956682C>G	ENST00000285311.3	-	1	772	c.67G>C	c.(67-69)Gtg>Ctg	p.V23L	DKK2_ENST00000510463.1_Intron|DKK2_ENST00000513208.1_Intron	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	23					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		GAGCTCTCCACCATCAGCACC	0.647													G	107956682	C	G	107956682	3	3	524	1	0	0	0	0	1	0	0	0	4584	507	18	4	728	4	DKK2	4	107956682	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		107956682	83197594	11	46753											
ENPP3	5169	broad.mit.edu	37	chr6	132059230	132059230	+	Frame_Shift_Del	DEL	G	G	-																															atgccacagaaagaaatggaGtaaatgtggttagtggacca																										TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr6:132059230delG	ENST00000414305.1	+	24	2555	c.2227delG	c.(2227-2229)gtafs	p.V743fs	ENPP3_ENST00000357639.3_Frame_Shift_Del_p.V743fs|ENPP3_ENST00000358229.5_3'UTR			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	743	Nuclease.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		AAGAAATGGAGTAAATGTGGT	0.313													-	132059230	G	-	132059230	7	5	524	1	0	1	0	1	0	0	0	0	5172	1029	36	0	2317	0	ENPP3	6	132059230	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		132059230	39055837	12	46754											
PDGFA	5154	broad.mit.edu	37	chr7	540795	540795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggattcaggcttgtggtcgCgcaggcgcactccaaatgct	7	9	13	12	4	1	0	1	0	0	0	3	1	2	1	1	4	1	4	1	4	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:540795C>T	ENST00000402802.3	-	5	945	c.538G>A	c.(538-540)Gcg>Acg	p.A180T	PDGFA_ENST00000354513.5_Missense_Mutation_p.A180T	NM_033023.4	NP_148983.1	P04085	PDGFA_HUMAN	platelet-derived growth factor alpha polypeptide	180					actin cytoskeleton organization|angiogenesis|cell projection assembly|embryo development|hair follicle development|lung alveolus development|negative chemotaxis|negative regulation of phosphatidylinositol biosynthetic process|negative regulation of platelet activation|organ morphogenesis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of DNA replication|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of MAP kinase activity|positive regulation of mesenchymal cell proliferation|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein autophosphorylation|positive regulation of protein kinase B signaling cascade|regulation of actin cytoskeleton organization|regulation of branching involved in salivary gland morphogenesis by epithelial-mesenchymal signaling|regulation of peptidyl-tyrosine phosphorylation|regulation of smooth muscle cell migration|skin development	cell surface|endoplasmic reticulum lumen|extracellular space|Golgi membrane|microvillus|platelet alpha granule lumen	collagen binding|eukaryotic cell surface binding|growth factor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|Epithelial(4;1.1e-17)|OV - Ovarian serous cystadenocarcinoma(56;1.7e-17)|all cancers(6;4.89e-15)		CTTGTGGTCGCGCAGGCGCAC	0.542													T	540795	C	T	540795	3	4	524	1	0	0	0	0	1	0	0	0	11733	768	27	1	120	1	PDGFA	7	540795	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		540795	158597868	13	46755											
DNAH11	8701	broad.mit.edu	37	chr7	21789848	21789848	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttggggcaggagaaatcCcagatctgttcagcgatgaa	11	10	12	8	1	3	3	1	1	2	2	4	5	4	3	1	3	1	2	1	3	2	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr7:21789848C>G	ENST00000328843.6	+	55	8858	c.8827C>G	c.(8827-8829)Cca>Gca	p.P2943A	DNAH11_ENST00000409508.3_Missense_Mutation_p.P2936A			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2943	AAA 4 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AGGAGAAATCCCAGATCTGTT	0.348									Kartagener syndrome				G	21789848	C	G	21789848	3	3	524	1	0	0	0	0	1	0	0	0	4638	623	22	4	9042	4	DNAH11	7	21789848	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	21249053	21789848	137348815	14	46756											
ADAM32	203102	broad.mit.edu	37	chr8	39114706	39114706	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttgtatttctgtttttagGttcaatcatggaaagagcat	10	19	8	4	0	3	1	2	0	1	1	3	2	3	2	0	2	1	4	0	2	4	8			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:39114706G>T	ENST00000379907.4	+	19	2133	c.2006G>T	c.(2005-2007)gGt>gTt	p.G669V	ADAM32_ENST00000437682.2_Splice_Site_p.G570V|ADAM32_ENST00000519315.1_Splice_Site_p.G563V	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	669					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			CTGTTTTTAGGTTCAATCATG	0.308													T	39114706	G	T	39114706	5	4	524	1	0	0	0	0	0	0	1	0	249	1275	44	4	2080	4	ADAM32	8	39114706	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08		39114706	107249316	15	46757											
HRSP12	10247	broad.mit.edu	37	chr8	99129320	99129320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacccttctgatcaaggacGacatggctaagccttccctc	9	10	7	15	1	3	1	2	1	1	0	5	3	4	2	3	2	1	1	3	2	2	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr8:99129320G>A	ENST00000254878.3	-	1	149	c.5C>T	c.(4-6)tCg>tTg	p.S2L	HRSP12_ENST00000519155.1_5'UTR	NM_005836.2	NP_005827.1	P52758	UK114_HUMAN	heat-responsive protein 12	2					regulation of translational termination	nucleus	endonuclease activity			large_intestine(3)|lung(1)|ovary(1)|urinary_tract(1)	6	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GATCAAGGACGACATGGCTAA	0.612													A	99129320	G	A	99129320	3	1	524	1	0	0	0	0	1	0	0	0	7415	1059	37	1	432	1	HRSP12	8	99129320	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	60014614	99129320	47234702	16	46758											
FOXD4	2298	broad.mit.edu	37	chr9	117891	117891	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaactctgaggggtcgcTcgggccgccgccgccctcga	5	5	14	17	6	1	1	0	1	1	0	4	2	1	1	5	3	1	1	5	3	1	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:117891T>G	ENST00000382500.2	-	1	526	c.229A>C	c.(229-231)Agc>Cgc	p.S77R		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	77					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GAGGGGTCGCTCGGGCCGCCG	0.706													G	117891	T	G	117891	3	3	524	1	0	0	0	0	1	0	0	0	6048	1551	54	5	1094	5	FOXD4	9	117891	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08		117891	141095540	17	46759											
PIGO	84720	broad.mit.edu	37	chr9	35093984	35093984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacagtggtccacacccagGaagtgagcaatcagcacgtc	12	5	10	14	1	1	1	1	1	0	0	3	2	2	2	3	2	2	2	3	2	2	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr9:35093984G>A	ENST00000378617.3	-	4	1087	c.693C>T	c.(691-693)ttC>ttT	p.F231F	PIGO_ENST00000298004.5_Silent_p.F231F|PIGO_ENST00000341666.3_Silent_p.F231F|PIGO_ENST00000361778.2_Silent_p.F231F	NM_032634.3	NP_116023.2	Q8TEQ8	PIGO_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class O	231				DVLIAHF -> EVSNQHV (in Ref. 7; AAH01030).	C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	transferase activity			endometrium(3)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)	38			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			CCACACCCAGGAAGTGAGCAA	0.557													A	35093984	G	A	35093984	2	1	524	1	0	0	0	0	0	0	0	1	11971	1165	41	2		2	PIGO	9	35093984	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	34976093	35093984	106119447	18	46760											
FBXO18	84893	broad.mit.edu	37	chr10	5948527	5948527	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgtgtttgccttcctcccgGtggaagacctctattggaac	7	12	10	12	2	1	1	0	0	1	1	3	3	3	3	4	3	2	1	4	3	3	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr10:5948527G>T	ENST00000379999.5	+	4	942	c.838G>T	c.(838-840)Gtg>Ttg	p.V280L	FBXO18_ENST00000470089.1_3'UTR|FBXO18_ENST00000362091.4_Missense_Mutation_p.V229L|FBXO18_ENST00000397269.3_5'UTR	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	229					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						CTTCCTCCCGGTGGAAGACCT	0.567													T	5948527	G	T	5948527	3	4	524	1	0	0	0	0	1	0	0	0	5780	1261	44	4	857	4	FBXO18	10	5948527	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		5948527	129586220	19	46761											
MUC5B	727897	broad.mit.edu	37	chr11	1269703	1269703	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagctcacactaccaaaGtgccgactaccacaaccacg	15	4	6	16	2	1	0	1	0	0	0	1	2	1	0	4	0	6	1	4	0	5	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:1269703G>A	ENST00000447027.1	+	31	11660	c.11602G>A	c.(11602-11604)Gtg>Atg	p.V3868M	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.V3865M			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3865	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CACTACCAAAGTGCCGACTAC	0.642													A	1269703	G	A	1269703	3	1	524	1	0	0	0	0	1	0	0	0	10055	1029	36	2	11724	2	MUC5B	11	1269703	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		1269703	133736813	20	46762											
DCHS1	8642	broad.mit.edu	37	chr11	6653011	6653011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagctgctctgctgctcacGgtccagggtttggagtgtgg	5	12	15	9	1	2	0	1	0	1	0	3	1	3	1	1	4	4	5	1	4	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr11:6653011G>A	ENST00000299441.3	-	7	3922	c.3511C>T	c.(3511-3513)Cgt>Tgt	p.R1171C	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1171	Cadherin 11.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCTGCTCACGGTCCAGGGTT	0.577													A	6653011	G	A	6653011	3	1	524	1	0	0	0	0	1	0	0	0	4321	1116	39	1	6445	1	DCHS1	11	6653011	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	5383308	6653011	128353505	21	46763											
CD163L1	283316	broad.mit.edu	37	chr12	7586119	7586119	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcacggcttgtccaaaaCgaaacatggcgaaagaaaat	17	7	9	8	3	1	1	1	0	0	1	2	3	2	1	1	2	2	1	1	2	7	2	rs146684411	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:7586119C>A	ENST00000313599.3	-	3	353	c.296G>T	c.(295-297)cGt>cTt	p.R99L	CD163L1_ENST00000416109.2_Missense_Mutation_p.R99L|CD163L1_ENST00000396630.1_Missense_Mutation_p.R99L			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	99	SRCR 1.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity	p.R99H(1)		breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TTGTCCAAAACGAAACATGGC	0.478													A	7586119	C	A	7586119	3	1	524	1	0	0	0	0	1	0	0	0	2998	536	19	4	4133	4	CD163L1	12	7586119	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		7586119	126265776	22	46764											
LRRK2	120892	broad.mit.edu	37	chr12	40704242	40704242	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccctccaggctcgcgctTcttcttcccctgtgattctc	2	16	6	17	2	3	1	0	1	3	0	8	1	6	1	4	1	0	2	4	1	0	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr12:40704242T>A	ENST00000298910.7	+	31	4385	c.4327T>A	c.(4327-4329)Tct>Act	p.S1443T		NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1443	Roc.				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GGCTCGCGCTTCTTCTTCCCC	0.458													A	40704242	T	A	40704242	3	1	524	1	0	0	0	0	1	0	0	0	9103	1783	62	5	4449	5	LRRK2	12	40704242	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	33118123	40704242	93147653	23	46765											
LATS2	26524	broad.mit.edu	37	chr13	21549240	21549240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctaccttcgctggcatcGttccaagggctttcttcatc	5	14	9	13	2	2	0	1	0	1	0	6	0	3	0	2	2	2	5	2	2	2	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr13:21549240G>A	ENST00000382592.4	-	8	3441	c.3036C>T	c.(3034-3036)aaC>aaT	p.N1012N	LATS2_ENST00000542899.1_Silent_p.N1012N	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	1012	AGC-kinase C-terminal.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		CGCTGGCATCGTTCCAAGGGC	0.557													A	21549240	G	A	21549240	2	1	524	1	0	0	0	0	0	0	0	1	8706	1136	40	1		1	LATS2	13	21549240	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08		21549240	93620638	24	46766											
OR4K2	390431	broad.mit.edu	37	chr14	20345254	20345254	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctgtctgtgttttatacCatctttactcccactctgaa	8	18	4	11	0	4	1	0	1	4	0	5	1	5	1	2	0	2	1	2	0	4	6			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:20345254C>A	ENST00000298642.2	+	1	864	c.828C>A	c.(826-828)acC>acA	p.T276T		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TGTTTTATACCATCTTTACTC	0.358													A	20345254	C	A	20345254	2	1	524	1	0	0	0	0	0	0	0	1	11148	581	21	4		4	OR4K2	14	20345254	Silent	SNP	C	TCGA-HT-7480-01A-11D-2086-08		20345254	87004286	25	46767											
MAX	4149	broad.mit.edu	37	chr14	65544633	65544633	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagctcgggtgctcacctTgctgctccagaagagcattc	8	9	11	13	2	1	2	1	0	0	2	4	3	2	2	2	1	5	5	2	1	1	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr14:65544633T>G	ENST00000284165.6	-	4	441	c.293A>C	c.(292-294)cAa>cCa	p.Q98P	MAX_ENST00000557277.1_Missense_Mutation_p.K7Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000557746.1_Missense_Mutation_p.Q89P|MAX_ENST00000555667.1_Missense_Mutation_p.Q89P|MAX_ENST00000555932.1_Intron|MAX_ENST00000556979.1_Missense_Mutation_p.Q98P|MAX_ENST00000556443.1_Missense_Mutation_p.Q89P|MAX_ENST00000555419.1_Missense_Mutation_p.Q62P|MAX_ENST00000358402.4_Missense_Mutation_p.Q89P|MAX_ENST00000358664.4_Missense_Mutation_p.Q98P	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	98	Leucine-zipper.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GTGCTCACCTTGCTGCTCCAG	0.557													G	65544633	T	G	65544633	3	3	524	1	0	0	0	0	1	0	0	0	9414	1812	63	5	413	5	MAX	14	65544633	Missense_Mutation	SNP	T	TCGA-HT-7480-01A-11D-2086-08	45199379	65544633	41804907	26	46768											
GINS2	51659	broad.mit.edu	37	chr16	85722433	85722433	+	Frame_Shift_Del	DEL	G	G	-																															accccgatgaggtagatcttGtccagactgaagttggggat																										TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr16:85722433delG	ENST00000253462.3	-	1	172	c.72delC	c.(70-72)gacfs	p.D24fs		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	24					DNA strand elongation involved in DNA replication|S phase of mitotic cell cycle	nucleoplasm	protein binding			endometrium(2)|large_intestine(2)|lung(2)	6						GGTAGATCTTGTCCAGACTGA	0.692													-	85722433	G	-	85722433	7	5	524	1	0	1	0	1	0	0	0	0	6444	1368	48	0	505	0	GINS2	16	85722433	Frame_Shift_Del	DEL	G	TCGA-HT-7480-01A-11D-2086-08		85722433	4632320	27	46769											
MYH8	4626	broad.mit.edu	37	chr17	10300214	10300214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaacttcattctggagcCgctgcttcgtcttctcaagg	6	14	8	13	2	5	0	3	0	3	0	7	1	5	1	1	2	3	2	1	2	2	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:10300214C>T	ENST00000403437.2	-	31	4362	c.4268G>A	c.(4267-4269)cGg>cAg	p.R1423Q	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1423					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						ATTCTGGAGCCGCTGCTTCGT	0.488									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10300214	C	T	10300214	3	4	524	1	0	0	0	0	1	0	0	0	10117	652	23	1	1585	1	MYH8	17	10300214	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08		10300214	70894996	28	46770											
SUPT6H	6830	broad.mit.edu	37	chr17	27018008	27018008	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgagagctatgaccaggCgatccgcaatgatgagacag	12	6	15	8	2	0	4	0	4	0	2	1	7	1	4	2	2	1	2	2	2	2	1			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:27018008C>T	ENST00000314616.6	+	27	3843	c.3560C>T	c.(3559-3561)gCg>gTg	p.A1187V	SUPT6H_ENST00000347486.4_Missense_Mutation_p.A1187V	NM_003170.3	NP_003161.2	Q7KZ85	SPT6H_HUMAN	suppressor of Ty 6 homolog (S. cerevisiae)	1187					chromatin remodeling|regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter	nucleus	hydrolase activity, acting on ester bonds|RNA binding|sequence-specific DNA binding transcription factor activity			NS(4)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(15)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	Lung NSC(42;0.00431)					TATGACCAGGCGATCCGCAAT	0.552													T	27018008	C	T	27018008	3	4	524	1	0	0	0	0	1	0	0	0	15496	768	27	1	3662	1	SUPT6H	17	27018008	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	16717794	27018008	54177202	29	46771											
KRT37	8688	broad.mit.edu	37	chr17	39580429	39580429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaccttctccaggtagttgGccaggcggtcattcaggaac	8	9	12	12	1	3	0	2	0	1	0	4	1	3	1	3	5	1	3	3	5	2	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:39580429G>A	ENST00000225550.3	-	1	346	c.347C>T	c.(346-348)gCc>gTc	p.A116V	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	116	Coil 1A.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				CAGGTAGTTGGCCAGGCGGTC	0.582													A	39580429	G	A	39580429	3	1	524	1	0	0	0	0	1	0	0	0	8532	1203	42	2	1030	2	KRT37	17	39580429	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	12562421	39580429	41614781	30	46772											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74625638	74625638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctttcctctgtctccggtgGtgtgggccttgggctgggtt	0	15	15	11	1	2	0	0	0	2	0	4	0	3	0	4	5	0	2	4	5	0	3			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr17:74625638G>A	ENST00000156626.7	-	2	486	c.287C>T	c.(286-288)aCc>aTc	p.T96I	ST6GALNAC1_ENST00000590878.1_5'UTR	NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	96					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						GTCTCCGGTGGTGTGGGCCTT	0.597													A	74625638	G	A	74625638	3	1	524	1	0	0	0	0	1	0	0	0	15319	1261	44	2	1547	2	ST6GALNAC1	17	74625638	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08	35045209	74625638	6569572	31	46773											
USP14	9097	broad.mit.edu	37	chr18	202880	202880	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgttatgttctttcttagCgacttcaggaagaaatcacc	10	15	7	9	1	5	1	2	0	3	1	5	3	5	2	1	1	1	2	1	1	4	5			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr18:202880C>T	ENST00000261601.7	+	11	968	c.877C>T	c.(877-879)Cga>Tga	p.R293*	USP14_ENST00000400266.3_Splice_Site_p.R282*|USP14_ENST00000582707.1_Splice_Site_p.R258*|USP14_ENST00000383589.2_Splice_Site_p.R247*	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TCTTTCTTAGCGACTTCAGGA	0.353													T	202880	C	T	202880	5	4	524	1	0	0	0	0	0	0	1	0	17147	782	27	1	919	1	USP14	18	202880	Splice_Site	SNP	C	TCGA-HT-7480-01A-11D-2086-08		202880	77874368	32	46774											
ZNF98	148198	broad.mit.edu	37	chr19	22574657	22574657	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttcacatttgtagggTttctctccagtatgaattat	9	18	6	8	0	3	1	1	1	2	0	5	1	4	1	1	1	0	3	1	1	4	7			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:22574657T>C	ENST00000357774.5	-	4	1501	c.1380A>G	c.(1378-1380)aaA>aaG	p.K460K		NM_001098626.1	NP_001092096.1	A6NK75	ZNF98_HUMAN	zinc finger protein 98	460					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)				ATTTGTAGGGTTTCTCTCCAG	0.373													C	22574657	T	C	22574657	2	2	524	1	0	0	0	0	0	0	0	1	18302	1722	60	3		3	ZNF98	19	22574657	Silent	SNP	T	TCGA-HT-7480-01A-11D-2086-08		22574657	36554326	33	46775											
ZNF91	7644	broad.mit.edu	37	chr19	23542477	23542477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtagggtttctctcCggtgtgcaacctcttatgtc	6	16	9	10	1	2	0	0	0	2	0	5	0	3	0	2	2	2	3	2	2	3	4			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:23542477C>T	ENST00000300619.7	-	4	3509	c.3304G>A	c.(3304-3306)Gga>Aga	p.G1102R	ZNF91_ENST00000599743.1_Intron|ZNF91_ENST00000397082.2_Missense_Mutation_p.G1070R	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	1102						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				GGTTTCTCTCCGGTGTGCAAC	0.398													T	23542477	C	T	23542477	3	4	524	1	0	0	0	0	1	0	0	0	18299	661	23	1	275	1	ZNF91	19	23542477	Missense_Mutation	SNP	C	TCGA-HT-7480-01A-11D-2086-08	967820	23542477	35586506	34	46776											
CIC	23152	broad.mit.edu	37	chr19	42796451	42796451	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatttcctctcctgcggcaGaatcacctatgtgcagtcag	8	11	8	14	1	3	1	2	0	1	1	5	1	4	1	4	1	2	2	4	1	2	2			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr19:42796451G>T	ENST00000572681.2	+	14	5803		c.e14-1		CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCCTGCGGCAGAATCACCTAT	0.662			"Mis, F, S"		oligodendroglioma								T	42796451	G	T	42796451	5	4	524	1	0	0	0	0	0	0	1	0	3454	956	33	4	3058	4	CIC	19	42796451	Splice_Site	SNP	G	TCGA-HT-7480-01A-11D-2086-08	19253974	42796451	16332532	35	46777											
CHGB	1114	broad.mit.edu	37	chr20	5905619	5905619	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttttctgtattttccagaAaaaagaactcgaaaacttgg	15	13	6	7	1	1	2	0	0	1	2	3	3	2	2	1	1	2	1	1	1	7	6			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:5905619A>G	ENST00000378961.4	+	5	2162	c.1958A>G	c.(1957-1959)aAa>aGa	p.K653R		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	653						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						ATTTTCCAGAAAAAAGAACTC	0.443													G	5905619	A	G	5905619	5	3	524	1	0	0	0	0	0	0	1	0	3369	28	1	3	1976	3	CHGB	20	5905619	Splice_Site	SNP	A	TCGA-HT-7480-01A-11D-2086-08		5905619	57119901	36	46778											
KCNG1	3755	broad.mit.edu	37	chr20	49626813	49626813	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggccgggtggaaggaggcGtccgaggtgcagctcagcgc	8	4	19	10	4	1	0	1	0	0	0	2	3	2	2	2	6	3	2	2	6	2	0			TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr20:49626813G>A	ENST00000371571.4	-	2	348	c.63C>T	c.(61-63)gaC>gaT	p.D21D	KCNG1_ENST00000396017.3_Silent_p.D21D	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	21						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.D21D(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGAAGGAGGCGTCCGAGGTGC	0.672													A	49626813	G	A	49626813	2	1	524	1	0	0	0	0	0	0	0	1	8085	1136	40	1		1	KCNG1	20	49626813	Silent	SNP	G	TCGA-HT-7480-01A-11D-2086-08	43721194	49626813	13398707	37	46779											
TRPM2	7226	broad.mit.edu	37	chr21	45838405	45838405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagttccagcaaaagcagcGgcccgagcagaagatcgagg	14	3	13	11	3	0	2	0	0	0	2	2	4	1	2	2	2	4	4	2	2	3	1	rs151101670	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chr21:45838405G>A	ENST00000397928.1	+	22	3873	c.3428G>A	c.(3427-3429)cGg>cAg	p.R1143Q	TRPM2_ENST00000300481.9_Missense_Mutation_p.R1123Q|TRPM2_ENST00000397932.2_Missense_Mutation_p.R1143Q|TRPM2_ENST00000300482.5_Missense_Mutation_p.R1143Q|AP001065.2_ENST00000423310.1_RNA|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1143						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CAAAAGCAGCGGCCCGAGCAG	0.607													A	45838405	G	A	45838405	3	1	524	1	0	0	0	0	1	0	0	0	16687	1116	39	1	3514	1	TRPM2	21	45838405	Missense_Mutation	SNP	G	TCGA-HT-7480-01A-11D-2086-08		45838405	2291490	38	46780											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HT-7480-01A-11D-2086-08	TCGA-HT-7480-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b0a47b5-0913-43b0-8508-71641e8d0521	c8ab24ab-a8ec-454b-9f9b-056ec420144b	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	524	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7480-01A-11D-2086-08		37028425	118242135	39	46781											
FUBP1	8880	broad.mit.edu	37	chr1	78420962	78420962	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attttcttgtagtactcttcCcaagccttggtataatcaac	10	16	5	10	0	3	0	1	0	2	0	4	0	4	0	2	1	3	3	2	1	6	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:78420962C>T	ENST00000370767.1	-	18	1845	c.1758G>A	c.(1756-1758)tgG>tgA	p.W586*	FUBP1_ENST00000370768.2_Nonsense_Mutation_p.W586*|FUBP1_ENST00000436586.2_Nonsense_Mutation_p.W607*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	586					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTACTCTTCCCAAGCCTTGG	0.318			"F, N"		oligodendroglioma								T	78420962	C	T	78420962	4	4	525	1	0	0	0	0	0	1	0	0	6144	624	22	2	188	2	FUBP1	1	78420962	Nonsense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		78420962	170829659	1	46782											
HRNR	388697	broad.mit.edu	37	chr1	152191242	152191242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtgttgttcgtagctggAggagtgacctgagccagatc	7	10	15	9	2	0	3	0	2	0	1	2	5	0	5	3	2	2	4	3	2	1	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:152191242A>G	ENST00000368801.2	-	3	2938	c.2863T>C	c.(2863-2865)Tcc>Ccc	p.S955P	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	955					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCGTAGCTGGAGGAGTGACCT	0.542													G	152191242	A	G	152191242	3	3	525	1	0	0	0	0	1	0	0	0	7414	304	11	3	5693	3	HRNR	1	152191242	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	73770280	152191242	97059379	2	46783											
SLC39A1	27173	broad.mit.edu	37	chr1	153932932	153932932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcacagctccatggccCgagcccggtctcgctgcagc	6	5	12	18	3	1	0	0	0	1	0	3	1	2	0	4	3	4	4	4	3	0	0	rs146586677	byFrequency	TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:153932932C>T	ENST00000368623.3	-	3	1376	c.617G>A	c.(616-618)cGg>cAg	p.R206Q	SLC39A1_ENST00000537590.1_Missense_Mutation_p.R104Q|SLC39A1_ENST00000368621.1_Missense_Mutation_p.R206Q|SLC39A1_ENST00000310483.6_Missense_Mutation_p.R206Q|SLC39A1_ENST00000356205.4_Missense_Mutation_p.R206Q			Q9NY26	S39A1_HUMAN	solute carrier family 39 (zinc transporter), member 1	206						endoplasmic reticulum membrane|integral to membrane|membrane fraction|plasma membrane	zinc ion transmembrane transporter activity			kidney(2)|large_intestine(2)|lung(7)|urinary_tract(1)	12	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)	Colorectal(1306;0.019)		CTCCATGGCCCGAGCCCGGTC	0.662													T	153932932	C	T	153932932	3	4	525	1	0	0	0	0	1	0	0	0	14706	652	23	1	361	1	SLC39A1	1	153932932	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	1741690	153932932	95317689	3	46784											
TP53BP2	7159	broad.mit.edu	37	chr1	223990463	223990465	+	In_Frame_Del	DEL	CTT	CTT	-																															tctttttgctgtagagctgcCttcttcttccacagccggtc																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr1:223990463_223990465delCTT	ENST00000391878.2	-	9	1345_1347	c.577_579delAAG	c.(577-579)aagdel	p.K193del	TP53BP2_ENST00000343537.7_In_Frame_Del_p.K322del	NM_005426.2	NP_005417.1	Q13625	ASPP2_HUMAN	tumor protein p53 binding protein, 2	316					apoptosis|cell cycle|induction of apoptosis|negative regulation of cell cycle|signal transduction	nucleus|perinuclear region of cytoplasm	NF-kappaB binding|protein binding|SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(2)	29				GBM - Glioblastoma multiforme(131;0.0958)		GTAGAGCTGCCTTCTTCTTCCAC	0.463													-	223990465	CTT	-	223990463	7	5	525	1	0	1	0	1	0	0	0	0	16485	680	24	0	2482	0	TP53BP2	1	223990463	In_Frame_Del	DEL	CTT	TCGA-HT-7481-01A-11D-2024-08	70057531	223990463	25260158	4	46785											
DNMT3A	1788	broad.mit.edu	37	chr2	25470985	25470985	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgggctcaggcgtggtaGccacagtgggggatgcgggg	6	5	20	10	3	1	0	1	0	0	0	1	1	1	1	2	7	2	2	2	7	1	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr2:25470985G>C	ENST00000264709.3	-	7	1113	c.776C>G	c.(775-777)gCt>gGt	p.A259G	DNMT3A_ENST00000402667.1_Missense_Mutation_p.A36G|DNMT3A_ENST00000380746.4_Missense_Mutation_p.A70G|DNMT3A_ENST00000321117.5_Missense_Mutation_p.A259G	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	259	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGGCGTGGTAGCCACAGTGGG	0.647			"Mis, F, N, S"		AML								C	25470985	G	C	25470985	3	2	525	1	0	0	0	0	1	0	0	0	4715	971	34	4	2030	4	DNMT3A	2	25470985	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		25470985	217728388	5	46786											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	525	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	183642127	209113112	34086261	6	46787											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	5	1	525	1	0	0	0	0	0	0	1	0	11990	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-HT-7481-01A-11D-2024-08		178917478	19104952	7	46788											
PIK3CA	5290	broad.mit.edu	37	chr3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-																															tggccagtacctcatggattAgaagatttgctgaaccctat																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178928080	AGA	-	178928078	7	5	525	1	0	1	0	1	0	0	0	0	11990	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	10600	178928078	19094352	8	46789											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952072	A	G	178952072	3	3	525	1	0	0	0	0	1	0	0	0	11990	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08	23994	178952072	19070358	9	46790											
LMLN	89782	broad.mit.edu	37	chr3	197751579	197751579	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggacctcattccgtttgtCtaattcagaaatcagcattc	11	14	6	10	1	4	1	3	0	1	1	6	2	5	2	2	1	1	2	2	1	2	5			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr3:197751579C>G	ENST00000330198.4	+	14	1598	c.1576C>G	c.(1576-1578)Cta>Gta	p.L526V	LMLN_ENST00000420910.2_Missense_Mutation_p.L563V|LMLN_ENST00000482695.1_Missense_Mutation_p.L511V|LMLN_ENST00000332636.5_Missense_Mutation_p.L474V	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	526					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTCCGTTTGTCTAATTCAGAA	0.393													G	197751579	C	G	197751579	3	3	525	1	0	0	0	0	1	0	0	0	8908	912	32	4	1745	4	LMLN	3	197751579	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	18799507	197751579	270851	10	46791											
CPEB2	132864	broad.mit.edu	37	chr4	15060817	15060817	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattttcttcataggttcaaAtacgtccttggaatttaagt	12	17	6	6	1	3	0	2	0	1	0	4	1	4	1	1	2	1	1	1	2	6	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:15060817A>T	ENST00000538197.1	+	10	2587	c.2587A>T	c.(2587-2589)Ata>Tta	p.I863L	CPEB2_ENST00000507071.1_Missense_Mutation_p.I418L|CPEB2_ENST00000382395.3_Missense_Mutation_p.I396L|CPEB2_ENST00000382401.3_Missense_Mutation_p.I391L|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000345451.3_Missense_Mutation_p.I388L|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000442003.2_Missense_Mutation_p.I836L|CPEB2_ENST00000541112.1_Missense_Mutation_p.I855L|CPEB2_ENST00000259997.5_Missense_Mutation_p.I426L	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	418					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						ATAGGTTCAAATACGTCCTTG	0.348													T	15060817	A	T	15060817	3	4	525	1	0	0	0	0	1	0	0	0	3832	101	4	5	2634	5	CPEB2	4	15060817	Missense_Mutation	SNP	A	TCGA-HT-7481-01A-11D-2024-08		15060817	176093459	11	46792											
UGT2B28	54490	broad.mit.edu	37	chr4	70155435	70155435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccttaggtctcaatactcGgctgtataagtggatacccc	9	12	9	11	1	1	0	1	0	1	0	3	1	1	1	3	3	3	2	3	3	6	5			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:70155435G>A	ENST00000335568.5	+	4	1057	c.1055G>A	c.(1054-1056)cGg>cAg	p.R352Q	UGT2B28_ENST00000511240.1_Intron	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	352					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CTCAATACTCGGCTGTATAAG	0.363													A	70155435	G	A	70155435	3	1	525	1	0	0	0	0	1	0	0	0	17062	1116	39	1	1069	1	UGT2B28	4	70155435	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	55094618	70155435	120998841	12	46793											
GK2	2712	broad.mit.edu	37	chr4	80328636	80328636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagttttaattaggccaTagatctcagaagaactgaag	14	11	8	8	0	1	4	1	1	1	3	3	4	2	4	2	1	1	1	2	1	6	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr4:80328636T>C	ENST00000358842.3	-	1	736	c.719A>G	c.(718-720)tAt>tGt	p.Y240C		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	240					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						AATTAGGCCATAGATCTCAGA	0.423													C	80328636	T	C	80328636	3	2	525	1	0	0	0	0	1	0	0	0	6477	1406	49	3	946	3	GK2	4	80328636	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	10173201	80328636	110825640	13	46794											
NUP155	9631	broad.mit.edu	37	chr5	37309323	37309323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttaacattctttcttttTcagtcttattttgaacttgt	7	22	3	9	0	4	1	1	1	3	0	4	1	4	1	1	0	2	0	1	0	3	9			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:37309323T>C	ENST00000231498.3	-	24	2878	c.2675A>G	c.(2674-2676)gAa>gGa	p.E892G	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000513532.1_Missense_Mutation_p.E828G|NUP155_ENST00000381843.2_Missense_Mutation_p.E833G	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	892					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TCTTTCTTTTTCAGTCTTATT	0.343													C	37309323	T	C	37309323	3	2	525	1	0	0	0	0	1	0	0	0	10832	1783	62	3	1548	3	NUP155	5	37309323	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		37309323	143605937	14	46795											
PIK3R1	5295	broad.mit.edu	37	chr5	67589147	67589149	+	In_Frame_Del	DEL	AAA	AAA	-																															acaggaaagggggaaataacAaattaatcaaaatatttcat																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr5:67589147_67589149delAAA	ENST00000521381.1	+	10	1751_1753	c.1135_1137delAAA	c.(1135-1137)aaadel	p.K379del	PIK3R1_ENST00000521657.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K379del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K79del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K109del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.K379del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K16del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	379	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	GGGAAATAACAAATTAATCAAAA	0.31			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589149	AAA	-	67589147	7	5	525	1	0	1	0	1	0	0	0	0	11995	131	5	0	1299	0	PIK3R1	5	67589147	In_Frame_Del	DEL	AAA	TCGA-HT-7481-01A-11D-2024-08	30279824	67589147	113326113	15	46796											
RREB1	6239	broad.mit.edu	37	chr6	7231010	7231010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcccgccagtagctttgCggtggacttcaatgagcccc	7	8	13	13	2	1	1	1	1	0	0	1	3	1	3	4	3	4	2	4	3	2	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:7231010C>T	ENST00000379938.2	+	10	3215	c.2678C>T	c.(2677-2679)gCg>gTg	p.A893V	RREB1_ENST00000349384.6_Missense_Mutation_p.A893V|RREB1_ENST00000334984.6_Missense_Mutation_p.A893V|RREB1_ENST00000379933.3_Missense_Mutation_p.A893V	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	893					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding	p.A893V(1)		breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGTAGCTTTGCGGTGGACTTC	0.592													T	7231010	C	T	7231010	3	4	525	1	0	0	0	0	1	0	0	0	13770	768	27	1	2704	1	RREB1	6	7231010	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08		7231010	163884057	16	46797											
HIST1H2BF	8343	broad.mit.edu	37	chr6	26199854	26199856	+	In_Frame_Del	DEL	AGA	AGA	-																															aaaggcggtgaccaaggcgcAgaagaaggatggtaagaagc																								rs150784470		TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:26199854_26199856delAGA	ENST00000359985.1	+	1	107_109	c.68_70delAGA	c.(67-72)cagaag>cag	p.K25del		NM_003522.3	NP_003513.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bf	25					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(7)|upper_aerodigestive_tract(3)	17		all_hematologic(11;0.196)				ACCAAGGCGCAGAAGAAGGATGG	0.522													-	26199856	AGA	-	26199854	7	5	525	1	0	1	0	1	0	0	0	0	7200	188	7	0	70	0	HIST1H2BF	6	26199854	In_Frame_Del	DEL	AGA	TCGA-HT-7481-01A-11D-2024-08	18968844	26199854	144915213	17	46798											
KIF6	221458	broad.mit.edu	37	chr6	39513390	39513390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaaacagtgatgaactttaCgcatatccgcgccaacctct	13	9	7	12	3	1	2	0	2	1	0	2	3	2	2	3	0	4	1	3	0	6	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:39513390C>T	ENST00000287152.7	-	11	1350	c.1256G>A	c.(1255-1257)cGt>cAt	p.R419H	KIF6_ENST00000373215.3_Missense_Mutation_p.R419H|KIF6_ENST00000373216.3_Missense_Mutation_p.R419H|KIF6_ENST00000373213.4_Missense_Mutation_p.R258H|KIF6_ENST00000538893.1_Missense_Mutation_p.R419H	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	419					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATGAACTTTACGCATATCCGC	0.358													T	39513390	C	T	39513390	3	4	525	1	0	0	0	0	1	0	0	0	8366	536	19	1	1240	1	KIF6	6	39513390	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	13313536	39513390	131601677	18	46799											
DLK2	65989	broad.mit.edu	37	chr6	43418774	43418774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccctctctggcatgggcGgctggcacagtcatccaggt	5	8	14	14	1	2	0	1	0	1	0	4	0	3	0	3	6	0	3	3	6	0	0			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:43418774G>A	ENST00000357338.3	-	6	1355	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	DLK2_ENST00000372488.3_Missense_Mutation_p.R219C|DLK2_ENST00000414245.1_Missense_Mutation_p.R213C|DLK2_ENST00000372485.1_Missense_Mutation_p.R213C	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	219	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGCATGGGCGGCTGGCACAG	0.622													A	43418774	G	A	43418774	3	1	525	1	0	0	0	0	1	0	0	0	4604	1116	39	1	500	1	DLK2	6	43418774	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	3905384	43418774	127696293	19	46800											
BACH2	60468	broad.mit.edu	37	chr6	90660233	90660235	+	In_Frame_Del	DEL	TCC	TCC	-																															agggtgagcccccgctcccgTcctccgcgtaggaataggaa																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:90660233_90660235delTCC	ENST00000257749.4	-	7	2297_2299	c.1590_1592delGGA	c.(1588-1593)gaggac>gac	p.E530del	BACH2_ENST00000537989.1_In_Frame_Del_p.E530del|RP3-512E2.2_ENST00000413986.1_RNA|BACH2_ENST00000343122.3_In_Frame_Del_p.E530del|RP3-512E2.2_ENST00000445838.1_RNA	NM_021813.2	NP_068585.1	Q9BYV9	BACH2_HUMAN	BTB and CNC homology 1, basic leucine zipper transcription factor 2	530						nucleus	protein dimerization activity|sequence-specific DNA binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	45		all_cancers(76;7.37e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.0063)		BRCA - Breast invasive adenocarcinoma(108;0.0799)		CCCGCTCCCGTCCTCCGCGTAGG	0.616													-	90660235	TCC	-	90660233	7	5	525	1	0	1	0	1	0	0	0	0	1289	1667	58	0	945	0	BACH2	6	90660233	In_Frame_Del	DEL	TCC	TCGA-HT-7481-01A-11D-2024-08	47241459	90660233	80454834	20	46801											
FRK	2444	broad.mit.edu	37	chr6	116265543	116265543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagaggcaacctgtgccGccatgtctacctgttgagtc	7	11	10	13	1	1	2	0	1	1	1	3	2	2	2	5	1	3	2	5	1	2	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:116265543G>A	ENST00000606080.1	-	6	1450	c.1004C>T	c.(1003-1005)gCg>gTg	p.A335V	FRK_ENST00000538210.1_Missense_Mutation_p.A193V	NM_002031.2	NP_002022.1	P42685	FRK_HUMAN	fyn-related kinase	335	Protein kinase.				negative regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|skin(1)|urinary_tract(1)	27		all_cancers(87;0.00559)|all_epithelial(87;0.00738)|Colorectal(196;0.0465)		all cancers(137;0.0128)|OV - Ovarian serous cystadenocarcinoma(136;0.0209)|GBM - Glioblastoma multiforme(226;0.0459)|Epithelial(106;0.0625)		AACCTGTGCCGCCATGTCTAC	0.418													A	116265543	G	A	116265543	3	1	525	1	0	0	0	0	1	0	0	0	6100	1087	38	1	525	1	FRK	6	116265543	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	25605310	116265543	54849524	21	46802											
MAP3K4	4216	broad.mit.edu	37	chr6	161470895	161470895	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctatttatagaccatttgtaGacaaagcactgaagcagatg	15	11	8	7	0	0	4	0	1	0	3	0	4	0	4	1	0	2	3	1	0	6	6			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr6:161470895G>C	ENST00000392142.4	+	3	1739	c.1591G>C	c.(1591-1593)Gac>Cac	p.D531H	MAP3K4_ENST00000366919.2_Missense_Mutation_p.D531H|MAP3K4_ENST00000348824.7_Missense_Mutation_p.D531H|MAP3K4_ENST00000366920.2_Missense_Mutation_p.D531H	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	531					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		ACCATTTGTAGACAAAGCACT	0.423													C	161470895	G	C	161470895	3	2	525	1	0	0	0	0	1	0	0	0	9327	942	33	4	1601	4	MAP3K4	6	161470895	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08	45205352	161470895	9644172	22	46803											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734856	37734856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcgaccgaaggtgtcgtGctagggatgatggcggaggc	7	8	18	8	4	0	1	0	1	0	0	2	5	0	3	1	5	1	1	1	5	2	1			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr8:37734856G>A	ENST00000330843.4	-	2	597	c.585C>T	c.(583-585)agC>agT	p.S195S	RAB11FIP1_ENST00000522727.1_Silent_p.S47S|RAB11FIP1_ENST00000524118.1_Silent_p.S47S|RAB11FIP1_ENST00000287263.4_Silent_p.S195S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	195					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			AAGGTGTCGTGCTAGGGATGA	0.448													A	37734856	G	A	37734856	2	1	525	1	0	0	0	0	0	0	0	1	12981	1310	46	2		2	RAB11FIP1	8	37734856	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		37734856	108629166	23	46804											
NOTCH1	4851	broad.mit.edu	37	chr9	139413067	139413069	+	In_Frame_Del	DEL	AGT	AGT	-																															gcggccatggggacactcgcAgtagaaggaggccacacggt																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr9:139413067_139413069delAGT	ENST00000277541.6	-	6	1148_1150	c.1073_1075delACT	c.(1072-1077)tactgc>tgc	p.Y358del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	358	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGACACTCGCAGTAGAAGGAGGC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413069	AGT	-	139413067	7	5	525	1	0	1	0	1	0	0	0	0	10623	188	7	0	6708	0	NOTCH1	9	139413067	In_Frame_Del	DEL	AGT	TCGA-HT-7481-01A-11D-2024-08		139413067	1800364	24	46805											
CD163	9332	broad.mit.edu	37	chr12	7635248	7635248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctcaaacctgcaagccGctgtctctgtcttcgctttt	5	15	8	13	2	3	0	1	0	2	0	5	0	3	0	2	1	3	4	2	1	2	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:7635248G>A	ENST00000359156.4	-	14	3440	c.3238C>T	c.(3238-3240)Cgg>Tgg	p.R1080W	CD163_ENST00000396620.3_Missense_Mutation_p.R1113W|CD163_ENST00000541972.1_Missense_Mutation_p.R1068W|CD163_ENST00000432237.2_Missense_Mutation_p.R1080W	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1080					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						CCTGCAAGCCGCTGTCTCTGT	0.428													A	7635248	G	A	7635248	3	1	525	1	0	0	0	0	1	0	0	0	2997	1086	38	1	244	1	CD163	12	7635248	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		7635248	126216647	25	46806											
KERA	11081	broad.mit.edu	37	chr12	91449544	91449544	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatttgttgttctgtaggTcaagaagggtcaggttctcc	8	15	11	7	0	4	1	2	0	2	1	5	1	4	1	1	3	0	4	1	3	4	6			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr12:91449544T>C	ENST00000266719.3	-	2	762	c.515A>G	c.(514-516)gAc>gGc	p.D172G		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	172					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTTCTGTAGGTCAAGAAGGGT	0.413													C	91449544	T	C	91449544	3	2	525	1	0	0	0	0	1	0	0	0	8201	1667	58	3	551	3	KERA	12	91449544	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	83814296	91449544	42402351	26	46807											
FSCB	84075	broad.mit.edu	37	chr14	44975038	44975038	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgtgctgagggagaccGaatttcaccaagaagctcta	11	11	10	9	1	2	3	1	1	1	2	2	5	2	3	2	1	2	2	2	1	4	4			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr14:44975038G>T	ENST00000340446.4	-	1	1444	c.1153C>A	c.(1153-1155)Cgg>Agg	p.R385R		NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	385	Pro-rich.					cilium				breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		GAGGGAGACCGAATTTCACCA	0.532													T	44975038	G	T	44975038	2	4	525	1	0	0	0	0	0	0	0	1	6118	1057	37	4		4	FSCB	14	44975038	Silent	SNP	G	TCGA-HT-7481-01A-11D-2024-08		44975038	62374502	27	46808											
NETO1	81832	broad.mit.edu	37	chr18	70417415	70417415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgtgtttcatgacaaggaTatttcttctgttcatgggtg	7	17	11	6	0	4	1	2	1	2	0	4	2	4	2	0	2	0	3	0	2	2	5			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr18:70417415T>C	ENST00000327305.6	-	9	2080	c.1423A>G	c.(1423-1425)Atc>Gtc	p.I475V	NETO1_ENST00000299430.2_Missense_Mutation_p.I474V|NETO1_ENST00000583169.1_Missense_Mutation_p.I475V	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	475					memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity			NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		ATGACAAGGATATTTCTTCTG	0.507													C	70417415	T	C	70417415	3	2	525	1	0	0	0	0	1	0	0	0	10415	1406	49	3	186	3	NETO1	18	70417415	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		70417415	7659833	28	46809											
NLRP2	55655	broad.mit.edu	37	chr19	55494669	55494669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacctgggacattggggacGtacagaagctgctttccgga	10	8	13	10	2	0	1	0	0	0	1	1	4	1	4	2	4	3	3	2	4	2	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr19:55494669G>A	ENST00000543010.1	+	6	1746	c.1603G>A	c.(1603-1605)Gta>Ata	p.V535I	NLRP2_ENST00000427260.2_Missense_Mutation_p.V512I|NLRP2_ENST00000538819.1_Missense_Mutation_p.V511I|NLRP2_ENST00000448584.2_Missense_Mutation_p.V535I|NLRP2_ENST00000537859.1_Missense_Mutation_p.V513I|NLRP2_ENST00000391721.4_Missense_Mutation_p.V511I|NLRP2_ENST00000339757.7_Missense_Mutation_p.V513I|NLRP2_ENST00000263437.6_Missense_Mutation_p.V532I	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	535					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding	p.V535I(1)		large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		CATTGGGGACGTACAGAAGCT	0.557													A	55494669	G	A	55494669	3	1	525	1	0	0	0	0	1	0	0	0	10553	1145	40	1	1621	1	NLRP2	19	55494669	Missense_Mutation	SNP	G	TCGA-HT-7481-01A-11D-2024-08		55494669	3634314	29	46810											
FLRT3	23767	broad.mit.edu	37	chr20	14306271	14306271	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggttactactgctttcacTgtgattgtttttgtacagat	7	19	8	7	1	1	2	1	1	0	1	2	2	1	2	0	1	4	4	0	1	3	7			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:14306271T>C	ENST00000378053.3	-	2	2138	c.1882A>G	c.(1882-1884)Agt>Ggt	p.S628G	MACROD2_ENST00000217246.4_Intron|MACROD2_ENST00000310348.4_Intron|FLRT3_ENST00000341420.4_Missense_Mutation_p.S628G	NM_013281.3	NP_037413.1	Q9NZU0	FLRT3_HUMAN	fibronectin leucine rich transmembrane protein 3	628					cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Colorectal(1;0.0464)	COAD - Colon adenocarcinoma(2;0.129)	Colorectal(1;0.0393)		CTGCTTTCACTGTGATTGTTT	0.413													C	14306271	T	C	14306271	3	2	525	1	0	0	0	0	1	0	0	0	5989	1580	55	3	71	3	FLRT3	20	14306271	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08		14306271	48719249	30	46811											
WISP2	8839	broad.mit.edu	37	chr20	43348625	43348625	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccctggtgctggatggcTgtggctgctgccgggtatgt	3	12	16	10	1	0	0	0	0	0	0	0	1	0	1	3	5	4	5	3	5	2	2			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:43348625T>G	ENST00000372868.2	+	3	491	c.148T>G	c.(148-150)Tgt>Ggt	p.C50G	WISP2_ENST00000372865.4_Missense_Mutation_p.C50G|WISP2_ENST00000190983.4_Missense_Mutation_p.C50G|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	50	IGFBP N-terminal.				cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GCTGGATGGCTGTGGCTGCTG	0.697													G	43348625	T	G	43348625	3	3	525	1	0	0	0	0	1	0	0	0	17475	1580	55	5	154	5	WISP2	20	43348625	Missense_Mutation	SNP	T	TCGA-HT-7481-01A-11D-2024-08	29042354	43348625	19676895	31	46812											
TSHZ2	128553	broad.mit.edu	37	chr20	51873020	51873020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatttgtgagcaaacatgCggtaaaactccacctaagca	15	8	8	10	1	0	1	0	1	0	0	1	2	1	1	2	1	5	3	2	1	4	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chr20:51873020C>T	ENST00000371497.5	+	2	3910	c.3023C>T	c.(3022-3024)gCg>gTg	p.A1008V	TSHZ2_ENST00000329613.6_Missense_Mutation_p.A1005V|TSHZ2_ENST00000603338.2_Missense_Mutation_p.A1005V|RP4-678D15.1_ENST00000606932.1_RNA	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	1008					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AGCAAACATGCGGTAAAACTC	0.468													T	51873020	C	T	51873020	3	4	525	1	0	0	0	0	1	0	0	0	16725	768	27	1	3029	1	TSHZ2	20	51873020	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	8524395	51873020	11152500	32	46813											
GAGE2D	729408	broad.mit.edu	37	chrX	49208295	49208296	+	In_Frame_Ins	INS	-	-	TAT																															gttggcgaggaagatcgaccINStatcggcctagaccaagacg																										TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:49208295_49208296insTAT	ENST00000404720.2	+	2	96_97	c.24_25insTAT	c.(25-27)tat>TATtat	p.9_9Y>YY		NM_001098407.1|NM_012196.1	NP_001091877.1|NP_036328.1			G antigen 2D																		GAAGATCGACCTATCGGCCTAG	0.465													TAT	49208296	-	TAT	49208295	7	5	525	1	0	1	1	0	0	0	0	0	6246	668	24	0	366	0	GAGE2D	23	49208295	In_Frame_Ins	INS	-	TCGA-HT-7481-01A-11D-2024-08		49208295	106062265	33	46814											
KIAA1210	57481	broad.mit.edu	37	chrX	118222475	118222475	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catctggaaggcagctgctgCataaaatcattctgctcttc	10	12	8	11	0	4	0	1	0	3	0	5	1	4	1	0	2	4	5	0	2	3	3			TCGA-HT-7481-01A-11D-2024-08	TCGA-HT-7481-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	932ab1b0-9a7d-4906-8474-21a1809dc45c	42f07474-90cb-4b0a-aed3-08e7ff9f7b49	g.chrX:118222475C>A	ENST00000402510.2	-	11	2717	c.2718G>T	c.(2716-2718)atG>atT	p.M906I		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	906										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCAGCTGCTGCATAAAATCAT	0.483													A	118222475	C	A	118222475	3	1	525	1	0	0	0	0	1	0	0	0	8272	710	25	4	2427	4	KIAA1210	23	118222475	Missense_Mutation	SNP	C	TCGA-HT-7481-01A-11D-2024-08	69014180	118222475	37048085	34	46815											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908011	12908011	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttatgaacagagcagccCgcaattttgccatacttgga	11	10	8	12	1	0	2	0	1	0	1	0	3	0	3	3	1	5	2	3	1	4	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr1:12908011C>T	ENST00000317869.6	-	2	357	c.132G>A	c.(130-132)gcG>gcA	p.A44A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A44A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						CAGAGCAGCCCGCAATTTTGC	0.478													T	12908011	C	T	12908011	2	4	526	1	0	0	0	0	0	0	0	1	7318	639	23	1		1	HNRNPCL1	1	12908011	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		12908011	236342610	1	46816											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	526	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		209113113	34086260	2	46817											
DPPA4	55211	broad.mit.edu	37	chr3	109049418	109049418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctggtgtcctcgccctgGctgaaattctcgcccaggag	5	10	11	15	2	2	1	0	1	2	0	5	2	3	2	4	3	0	1	4	3	1	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:109049418G>C	ENST00000335658.6	-	5	686	c.632C>G	c.(631-633)gCc>gGc	p.A211G	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	211						nucleus	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						CCTCGCCCTGGCTGAAATTCT	0.522													C	109049418	G	C	109049418	3	2	526	1	0	0	0	0	1	0	0	0	4775	1203	42	4	294	4	DPPA4	3	109049418	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		109049418	88973012	3	46818											
PLXNA1	5361	broad.mit.edu	37	chr3	126732904	126732904	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcagcgacctgccagtgaaCctgtcagtcgtgtggaacgg	8	8	14	11	3	2	1	2	1	0	0	3	3	2	2	3	2	4	0	3	2	2	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr3:126732904C>G	ENST00000393409.2	+	10	2355	c.2355C>G	c.(2353-2355)aaC>aaG	p.N785K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.N762K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	785					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TGCCAGTGAACCTGTCAGTCG	0.632													G	126732904	C	G	126732904	3	3	526	1	0	0	0	0	1	0	0	0	12196	506	18	4	2393	4	PLXNA1	3	126732904	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	17683486	126732904	71289526	4	46819											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611243	62611243	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttaagtaagataattcacGtagttgttcctgacgaattt	13	16	7	5	2	1	2	1	1	0	1	2	3	2	2	1	0	0	4	1	0	5	9			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:62611243G>A	ENST00000281156.4	-	5	795	c.517C>T	c.(517-519)Cgt>Tgt	p.R173C		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		GATAATTCACGTAGTTGTTCC	0.418													A	62611243	G	A	62611243	3	1	526	1	0	0	0	0	1	0	0	0	8205	1145	40	1	552	1	KHDRBS2	6	62611243	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		62611243	108503824	5	46820											
SLC2A12	154091	broad.mit.edu	37	chr6	134350799	134350799	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agatgatcccaagttcataaCccaccaggaggccactgaca	14	6	8	13	0	1	3	1	2	0	1	2	4	2	4	4	2	1	1	4	2	2	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr6:134350799C>G	ENST00000275230.5	-	2	319	c.164G>C	c.(163-165)gGt>gCt	p.G55A		NM_145176.2	NP_660159.1	Q8TD20	GTR12_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 12	55						endomembrane system|integral to membrane|perinuclear region of cytoplasm|plasma membrane	D-glucose transmembrane transporter activity			NS(1)|breast(1)|large_intestine(6)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	17	Breast(56;0.214)|Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0101)|GBM - Glioblastoma multiforme(68;0.0123)		AAGTTCATAACCCACCAGGAG	0.517													G	134350799	C	G	134350799	3	3	526	1	0	0	0	0	1	0	0	0	14635	507	18	4	1705	4	SLC2A12	6	134350799	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	71739556	134350799	36764268	6	46821											
INTS1	26173	broad.mit.edu	37	chr7	1538970	1538970	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtctggctgtcctcctcctCcgtgagggaggggtgtgggc	2	10	17	12	2	1	1	0	1	1	0	5	2	5	2	4	5	0	1	4	5	0	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:1538970C>A	ENST00000389470.4	-	8	1254	c.1255G>T	c.(1255-1257)Gag>Tag	p.E419*	INTS1_ENST00000404767.3_Nonsense_Mutation_p.E291*			Q8N201	INT1_HUMAN	integrator complex subunit 1	291					snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		TCCTCCTCCTCCGTGAGGGAG	0.697													A	1538970	C	A	1538970	4	1	526	1	0	0	0	0	0	1	0	0	7833	864	30	4	5869	4	INTS1	7	1538970	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		1538970	157599693	7	46822											
VPS41	27072	broad.mit.edu	37	chr7	38796519	38796519	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggatcaactgaaaaacGtctttatgtcttaatgttaa	13	16	7	5	1	3	1	1	1	2	0	3	2	3	2	0	1	2	1	0	1	6	5	rs146405914		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:38796519G>A	ENST00000310301.4	-	19	1668	c.1614C>T	c.(1612-1614)gaC>gaT	p.D538D	VPS41_ENST00000395969.2_Silent_p.D513D	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	538					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						ACTGAAAAACGTCTTTATGTC	0.284													A	38796519	G	A	38796519	2	1	526	1	0	0	0	0	0	0	0	1	17312	1136	40	1		1	VPS41	7	38796519	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08	37257549	38796519	120342144	8	46823											
MET	4233	broad.mit.edu	37	chr7	116381017	116381017	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgccacgacaaatgtgtgCgatcggaggaatgcctgagc	10	7	15	9	3	0	1	0	1	0	0	1	5	0	3	2	3	4	0	2	3	2	0			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:116381017C>T	ENST00000397752.3	+	5	1839	c.1639C>T	c.(1639-1641)Cga>Tga	p.R547*	MET_ENST00000436117.2_Nonsense_Mutation_p.R547*|MET_ENST00000318493.6_Nonsense_Mutation_p.R547*|MET_ENST00000495962.1_3'UTR	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	547					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CAAATGTGTGCGATCGGAGGA	0.512			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				T	116381017	C	T	116381017	4	4	526	1	0	0	0	0	0	1	0	0	9560	760	27	1	1653	1	MET	7	116381017	Nonsense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	77584498	116381017	42757646	9	46824											
AKR1B15	441282	broad.mit.edu	37	chr7	134256364	134256364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatttacagactggggaTgactttttccccaaagatga	11	13	9	8	0	0	4	0	2	0	2	1	5	1	5	2	2	1	1	2	2	3	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr7:134256364T>A	ENST00000457545.2	+	6	704	c.444T>A	c.(442-444)gaT>gaA	p.D148E	AKR1B15_ENST00000423958.1_Missense_Mutation_p.D120E	NM_001080538.2	NP_001074007.2	C9JRZ8	AK1BF_HUMAN	aldo-keto reductase family 1, member B15	148							oxidoreductase activity			endometrium(1)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|urinary_tract(1)	18						AGACTGGGGATGACTTTTTCC	0.423													A	134256364	T	A	134256364	3	1	526	1	0	0	0	0	1	0	0	0	468	1461	51	5	458	5	AKR1B15	7	134256364	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08	17875347	134256364	24882299	10	46825											
PRDM14	63978	broad.mit.edu	37	chr8	70981760	70981760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgctgctcaggaagggCggcacttccctggggacgtg	5	8	17	11	2	1	0	1	0	0	0	2	2	2	2	1	6	2	4	1	6	1	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr8:70981760C>T	ENST00000276594.2	-	2	537	c.336G>A	c.(334-336)ccG>ccA	p.P112P		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	112					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			TCAGGAAGGGCGGCACTTCCC	0.632													T	70981760	C	T	70981760	2	4	526	1	0	0	0	0	0	0	0	1	12541	755	27	1		1	PRDM14	8	70981760	Silent	SNP	C	TCGA-HT-7482-01A-11D-2024-08		70981760	75382262	11	46826											
KIAA1462	57608	broad.mit.edu	37	chr10	30316584	30316584	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaactttctaactgactgatCaaatcccagggacgacggct	13	9	8	11	2	2	2	1	2	1	0	3	4	3	3	1	2	2	1	1	2	3	2			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr10:30316584C>G	ENST00000375377.1	-	3	2594	c.2493G>C	c.(2491-2493)ttG>ttC	p.L831F		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	831										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTGACTGATCAAATCCCAGG	0.557													G	30316584	C	G	30316584	3	3	526	1	0	0	0	0	1	0	0	0	8292	825	29	4	1594	4	KIAA1462	10	30316584	Missense_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08		30316584	105218163	12	46827											
BRSK2	9024	broad.mit.edu	37	chr11	1477653	1477653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccacgggggggccagccGtgttccagaagccggtcaag	8	4	17	12	3	1	1	1	0	0	1	2	1	2	1	5	5	2	1	5	5	2	1			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr11:1477653G>A	ENST00000308219.9	+	17	2130	c.1744G>A	c.(1744-1746)Gtg>Atg	p.V582M	BRSK2_ENST00000528710.1_Missense_Mutation_p.V522M|BRSK2_ENST00000308230.5_Missense_Mutation_p.V604M|BRSK2_ENST00000526678.1_Missense_Mutation_p.V604M|BRSK2_ENST00000528841.1_Missense_Mutation_p.V582M|BRSK2_ENST00000382179.1_Missense_Mutation_p.V628M|BRSK2_ENST00000531197.1_Missense_Mutation_p.V582M|BRSK2_ENST00000544817.1_Missense_Mutation_p.V277M	NM_001256627.1|NM_003957.3	NP_001243556.1|NP_003948.2	Q8IWQ3	BRSK2_HUMAN	BR serine/threonine kinase 2	582					establishment of cell polarity|neuron differentiation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(4)|large_intestine(1)|lung(5)	10		all_epithelial(84;4.17e-05)|Breast(177;0.000307)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00144)|Lung(200;0.0713)|LUSC - Lung squamous cell carcinoma(625;0.0842)		GGGGCCAGCCGTGTTCCAGAA	0.612													A	1477653	G	A	1477653	3	1	526	1	0	0	0	0	1	0	0	0	1533	1145	40	1	1810	1	BRSK2	11	1477653	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		1477653	133528863	13	46828											
SLC6A15	55117	broad.mit.edu	37	chr12	85255483	85255483	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccataccgtccattgggAgcagtatccagagttgggga	10	10	12	9	1	0	1	0	0	0	1	3	3	3	3	4	3	2	3	4	3	2	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr12:85255483A>G	ENST00000266682.5	-	12	2662	c.2121T>C	c.(2119-2121)gcT>gcC	p.A707A	SLC6A15_ENST00000552192.1_Silent_p.A600A|SLC6A15_ENST00000309283.7_3'UTR	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	707					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GTCCATTGGGAGCAGTATCCA	0.423													G	85255483	A	G	85255483	2	3	526	1	0	0	0	0	0	0	0	1	14772	291	11	3		3	SLC6A15	12	85255483	Silent	SNP	A	TCGA-HT-7482-01A-11D-2024-08		85255483	48596412	14	46829											
SRL	6345	broad.mit.edu	37	chr16	4242361	4242361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaaatgggattgatgccGaagaagtccttataggcctc	11	10	12	8	1	0	2	0	1	0	1	2	5	1	4	3	3	1	0	3	3	5	3			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr16:4242361G>A	ENST00000399609.3	-	6	1227	c.1215C>T	c.(1213-1215)ttC>ttT	p.F405F	SRL_ENST00000537996.1_Silent_p.F363F	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	864	Acidic domain, probably binds calcium (By similarity).					sarcoplasmic reticulum lumen	GTP binding|GTPase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						GATTGATGCCGAAGAAGTCCT	0.493													A	4242361	G	A	4242361	2	1	526	1	0	0	0	0	0	0	0	1	15246	1049	37	1		1	SRL	16	4242361	Silent	SNP	G	TCGA-HT-7482-01A-11D-2024-08		4242361	86112392	15	46830											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	526	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		7577121	73618089	16	46831											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	6	4	19	12	6	1	0	1	0	0	0	1	2	1	2	2	6	2	0	2	6	2	0	rs137852790		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr17:7578475G>A	ENST00000420246.2	-	5	587	c.455C>T	c.(454-456)cCg>cTg	p.P152L	TP53_ENST00000445888.2_Missense_Mutation_p.P152L|TP53_ENST00000269305.4_Missense_Mutation_p.P152L|TP53_ENST00000359597.4_Missense_Mutation_p.P152L|TP53_ENST00000413465.2_Missense_Mutation_p.P152L|TP53_ENST00000455263.2_Missense_Mutation_p.P152L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)			A	7578475	G	A	7578475	3	1	526	1	0	0	0	0	1	0	0	0	16482	1116	39	1	843	1	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08	1354	7578475	73616735	17	46832											
CSNK2A1	1457	broad.mit.edu	37	chr20	464702	464702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggtccaaggggtgaagggGttggcactgaagaaatccct	11	7	16	7	0	0	3	0	2	0	1	2	4	2	3	2	6	0	2	2	6	4	1	rs61747403		TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chr20:464702G>A	ENST00000217244.3	-	14	1454	c.1079C>T	c.(1078-1080)aCc>aTc	p.T360I	CSNK2A1_ENST00000400217.2_Missense_Mutation_p.T224I|CSNK2A1_ENST00000400227.3_Intron|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.T360I	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	360					axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			GGGTGAAGGGGTTGGCACTGA	0.547													A	464702	G	A	464702	3	1	526	1	0	0	0	0	1	0	0	0	3990	1261	44	2	100	2	CSNK2A1	20	464702	Missense_Mutation	SNP	G	TCGA-HT-7482-01A-11D-2024-08		464702	62560818	18	46833											
ATRX	546	broad.mit.edu	37	chrX	76849221	76849221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagaagtaccatttTcccagaatgctctaaaacct	15	11	5	10	0	2	2	1	0	1	2	3	3	3	2	3	0	3	2	3	0	6	5			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:76849221T>C	ENST00000373344.5	-	26	6269	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2019					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)	AGTACCATTTTCCCAGAATGC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76849221	T	C	76849221	3	2	526	1	0	0	0	0	1	0	0	0	1213	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7482-01A-11D-2024-08		76849221	78421339	19	46834											
RBM41	55285	broad.mit.edu	37	chrX	106310757	106310757	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccacaatttatatatattCtagctaccactaatttctgt	13	16	2	10	0	2	0	0	0	2	0	2	0	2	0	2	0	2	1	2	0	8	10			TCGA-HT-7482-01A-11D-2024-08	TCGA-HT-7482-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	020cf1f1-cb63-4fe4-ac2f-ed85153dba6b	a9c741fd-ede2-4d99-8145-f2e1020b12d9	g.chrX:106310757C>A	ENST00000372479.3	-	7	1272	c.1242G>T	c.(1240-1242)taG>taT	p.*414Y	RBM41_ENST00000372487.1_Intron	NM_018301.3	NP_060771.3	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	0							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TATATATATTCTAGCTACCAC	0.378													A	106310757	C	A	106310757	4	1	526	1	0	0	0	0	0	0	0	0	13223	924	32	4	12	4	RBM41	23	106310757	Nonstop_Mutation	SNP	C	TCGA-HT-7482-01A-11D-2024-08	29461536	106310757	48959803	20	46835											
HIVEP3	59269	broad.mit.edu	37	chr1	42049199	42049199	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggtccgctgtcctattcGcccacacttgccaaagatga	8	9	10	14	3	0	2	0	1	0	1	3	2	2	2	4	2	1	1	4	2	2	3			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:42049199G>A	ENST00000372584.1	-	3	2284	c.1270C>T	c.(1270-1272)Cga>Tga	p.R424*	HIVEP3_ENST00000247584.5_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000429157.2_Nonsense_Mutation_p.R424*|HIVEP3_ENST00000372583.1_Nonsense_Mutation_p.R424*	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	424	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	p.R424*(1)		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)				TGTCCTATTCGCCCACACTTG	0.607													A	42049199	G	A	42049199	4	1	527	1	0	0	0	0	0	1	0	0	7243	1095	38	1	5974	1	HIVEP3	1	42049199	Nonsense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		42049199	207201422	1	46836											
FLAD1	80308	broad.mit.edu	37	chr1	154965246	154965246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agctgtttgtcccatactgtAtcctgtatgaccgagggtaa	9	13	10	9	1	0	1	0	1	0	0	2	2	2	1	3	1	2	5	3	1	4	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr1:154965246A>G	ENST00000292180.3	+	6	1934	c.1612A>G	c.(1612-1614)Atc>Gtc	p.I538V	FLAD1_ENST00000405236.2_Intron|FLAD1_ENST00000368428.1_Missense_Mutation_p.I79V|FLAD1_ENST00000368432.1_Missense_Mutation_p.I441V|FLAD1_ENST00000315144.10_Missense_Mutation_p.I441V|FLAD1_ENST00000295530.2_Intron	NM_025207.4	NP_079483.3	Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	538	FAD synthase.				FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCCATACTGTATCCTGTATGA	0.502													G	154965246	A	G	154965246	3	3	527	1	0	0	0	0	1	0	0	0	5969	449	16	3	1774	3	FLAD1	1	154965246	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08	112916047	154965246	94285375	2	46837											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	527	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		209113113	34086260	3	46838											
KCNH8	131096	broad.mit.edu	37	chr3	19389439	19389439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgtcagtgacattgcagtgGagattctttttattataggt	9	16	10	6	1	2	2	1	1	1	1	2	3	2	2	1	2	1	1	1	2	3	7			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:19389439G>A	ENST00000328405.2	+	5	1059	c.793G>A	c.(793-795)Gag>Aag	p.E265K	KCNH8_ENST00000475063.1_3'UTR	NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	265						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CATTGCAGTGGAGATTCTTTT	0.393													A	19389439	G	A	19389439	3	1	527	1	0	0	0	0	1	0	0	0	8096	1175	41	2	811	2	KCNH8	3	19389439	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		19389439	178632991	4	46839											
CASR	846	broad.mit.edu	37	chr3	122002611	122002611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcattgccaaggagatcGagtttctgtcgtggacggag	8	10	14	9	3	1	1	0	0	1	1	3	5	1	3	2	3	2	2	2	3	1	2	rs104893712		TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr3:122002611G>A	ENST00000498619.1	+	7	2278	c.1840G>A	c.(1840-1842)Gag>Aag	p.E614K	CASR_ENST00000490131.1_Missense_Mutation_p.E604K|CASR_ENST00000296154.5_Missense_Mutation_p.E604K	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	604					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CAAGGAGATCGAGTTTCTGTC	0.517													A	122002611	G	A	122002611	3	1	527	1	0	0	0	0	1	0	0	0	2708	1059	37	1	1862	1	CASR	3	122002611	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	102613172	122002611	76019819	5	46840											
TLR3	7098	broad.mit.edu	37	chr4	187004365	187004365	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagcctcttcgtaacttgAccattctggatctaagcaac	10	12	6	13	1	3	1	0	1	3	0	5	2	4	2	3	1	4	2	3	1	3	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr4:187004365A>G	ENST00000296795.3	+	4	1629	c.1525A>G	c.(1525-1527)Acc>Gcc	p.T509A	TLR3_ENST00000504367.1_Missense_Mutation_p.T232A	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3						activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TCGTAACTTGACCATTCTGGA	0.443													G	187004365	A	G	187004365	3	3	527	1	0	0	0	0	1	0	0	0	16052	275	10	3	1535	3	TLR3	4	187004365	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		187004365	4149911	6	46841											
SCD	6319	broad.mit.edu	37	chr10	102120548	102120548	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgactactctgccagtgagtAccgctggcacatcaacttca	10	10	8	13	1	3	2	2	2	1	0	3	2	3	2	2	1	4	3	2	1	3	3			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr10:102120548A>C	ENST00000370355.2	+	6	1319	c.938A>C	c.(937-939)tAc>tCc	p.Y313S		NM_005063.4	NP_005054.3	O00767	ACOD_HUMAN	stearoyl-CoA desaturase (delta-9-desaturase)	313					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|large_intestine(3)|lung(5)	9		Colorectal(252;0.0323)		Epithelial(162;1.97e-10)|all cancers(201;1.73e-08)		GCCAGTGAGTACCGCTGGCAC	0.532													C	102120548	A	C	102120548	3	2	527	1	0	0	0	0	1	0	0	0	13978	391	14	5	960	5	SCD	10	102120548	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		102120548	33414199	7	46842											
PACS1	55690	broad.mit.edu	37	chr11	65988687	65988687	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattggcagcctcaacagcaAaggcagcctcggaaaagaca	15	4	11	11	1	1	1	1	0	0	1	2	3	1	2	2	3	4	3	2	3	4	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:65988687A>G	ENST00000320580.4	+	10	1295	c.1262A>G	c.(1261-1263)aAa>aGa	p.K421R		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	421					interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						CTCAACAGCAAAGGCAGCCTC	0.642													G	65988687	A	G	65988687	3	3	527	1	0	0	0	0	1	0	0	0	11448	14	1	3	1300	3	PACS1	11	65988687	Missense_Mutation	SNP	A	TCGA-HT-7483-01A-11D-2024-08		65988687	69017829	8	46843											
DHCR7	1717	broad.mit.edu	37	chr11	71152414	71152414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccaggacaggagatgaGcgtttgcaaaccagagcagg	15	4	14	8	1	0	4	0	1	0	3	0	6	0	5	2	3	5	3	2	3	2	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr11:71152414G>A	ENST00000355527.3	-	6	761	c.485C>T	c.(484-486)gCt>gTt	p.A162V	DHCR7_ENST00000407721.2_Missense_Mutation_p.A162V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	162					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	CAGGAGATGAGCGTTTGCAAA	0.547									Smith-Lemli-Opitz syndrome				A	71152414	G	A	71152414	3	1	527	1	0	0	0	0	1	0	0	0	4516	971	34	2	958	2	DHCR7	11	71152414	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	5163727	71152414	63854102	9	46844											
FGD6	55785	broad.mit.edu	37	chr12	95604907	95604907	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttggttttggggctatTgctggtttcattttctttgt	3	23	10	5	0	2	0	1	0	1	0	2	0	2	0	0	4	1	4	0	4	1	10			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr12:95604907T>G	ENST00000343958.4	-	2	376	c.153A>C	c.(151-153)gcA>gcC	p.A51A	FGD6_ENST00000546711.1_Silent_p.A51A|FGD6_ENST00000549499.1_Silent_p.A51A	NM_018351.3	NP_060821.3	Q6ZV73	FGD6_HUMAN	FYVE, RhoGEF and PH domain containing 6	51					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(14)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						TTGGGGCTATTGCTGGTTTCA	0.458													G	95604907	T	G	95604907	2	3	527	1	0	0	0	0	0	0	0	1	5886	1799	63	5		5	FGD6	12	95604907	Silent	SNP	T	TCGA-HT-7483-01A-11D-2024-08		95604907	38246988	10	46845											
CDR2	1039	broad.mit.edu	37	chr16	22359074	22359074	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcaagtgctcattttcctCttcatcagggcttggctgac	6	16	8	11	0	5	1	4	1	1	0	6	1	6	1	1	2	1	3	1	2	1	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr16:22359074C>G	ENST00000268383.2	-	5	884	c.577G>C	c.(577-579)Gag>Cag	p.E193Q		NM_001802.1	NP_001793.1	Q01850	CDR2_HUMAN	cerebellar degeneration-related protein 2, 62kDa	193						nucleus	protein binding			endometrium(3)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(48;0.0188)		TCATTTTCCTCTTCATCAGGG	0.458													G	22359074	C	G	22359074	3	3	527	1	0	0	0	0	1	0	0	0	3202	922	32	4	791	4	CDR2	16	22359074	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		22359074	67995679	11	46846											
TP53	7157	broad.mit.edu	37	chr17	7577551	7577551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctccggttcatgccgcCcatgcaggaactgttacaca	8	8	11	14	2	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	2	2			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:7577551C>G	ENST00000420246.2	-	7	862	c.730G>C	c.(730-732)Ggc>Cgc	p.G244R	TP53_ENST00000455263.2_Missense_Mutation_p.G244R|TP53_ENST00000269305.4_Missense_Mutation_p.G244R|TP53_ENST00000413465.2_Missense_Mutation_p.G244R|TP53_ENST00000359597.4_Missense_Mutation_p.G244R|TP53_ENST00000445888.2_Missense_Mutation_p.G244R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	244	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934572).|G -> E (in a sporadic cancer; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in sporadic cancers; somatic mutation).|G -> V (in LFS; germline mutation and in sporadic cancers; somatic mutation).|MG -> IC (in a sporadic cancer; somatic mutation).|MG -> IS (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.G244C(45)|p.G244S(38)|p.0?(8)|p.G244R(6)|p.?(5)|p.G244fs*3(4)|p.G151C(4)|p.G244fs*4(3)|p.M243_G244>IC(1)|p.G244fs*19(1)|p.G244fs*17(1)|p.M243fs*18(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.C242_M246>L(1)|p.G244del(1)|p.G151S(1)|p.G151fs*4(1)|p.C238_M246delCNSSCMGGM(1)|p.G151R(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)		TTCATGCCGCCCATGCAGGAA	0.582		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)			G	7577551	C	G	7577551	3	3	527	1	0	0	0	0	1	0	0	0	16482	623	22	4	560	4	TP53	17	7577551	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08		7577551	73617659	12	46847											
C17orf47	284083	broad.mit.edu	37	chr17	56620284	56620284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatgaggagtcaggtcCgtacctaggtaaggaccgag	11	6	13	11	2	1	1	1	1	0	0	2	4	2	3	5	4	1	2	5	4	3	3			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr17:56620284C>T	ENST00000321691.3	-	1	1445	c.1264G>A	c.(1264-1266)Gga>Aga	p.G422R	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	422										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					GAGTCAGGTCCGTACCTAGGT	0.547													T	56620284	C	T	56620284	3	4	527	1	0	0	0	0	1	0	0	0	1874	661	23	1	456	1	C17orf47	17	56620284	Missense_Mutation	SNP	C	TCGA-HT-7483-01A-11D-2024-08	49042733	56620284	24574926	13	46848											
PAPL	390928	broad.mit.edu	37	chr19	39591277	39591277	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggggataatgagggcctgtgGtacaggtaatgtgggggtgc	8	9	20	4	0	0	1	0	1	0	0	0	2	0	2	1	7	2	2	1	7	3	3	rs149656463	byFrequency	TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr19:39591277G>C	ENST00000331256.5	+	6	961	c.687G>C	c.(685-687)tgG>tgC	p.W229C	PAPL_ENST00000594229.1_Missense_Mutation_p.G188A	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		229						extracellular region	acid phosphatase activity|metal ion binding										AGGGCCTGTGGTACAGGTAAT	0.572													C	39591277	G	C	39591277	3	2	527	1	0	0	0	0	1	0	0	0	11503	1270	44	4	705	4	PAPL	19	39591277	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08		39591277	19537706	14	46849											
ADRA1D	146	broad.mit.edu	37	chr20	4202427	4202427	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcgctgggtggctttcGacggctggcgaccggagcct	5	7	18	11	5	0	0	0	0	0	0	1	4	0	1	2	6	1	3	2	6	1	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:4202427G>T	ENST00000379453.4	-	2	1578	c.1462C>A	c.(1462-1464)Cga>Aga	p.R488R		NM_000678.3	NP_000669.1	P25100	ADA1D_HUMAN	adrenoceptor alpha 1D	488					cell proliferation|cell-cell signaling|DNA metabolic process|G-protein signaling, coupled to cAMP nucleotide second messenger|multicellular organismal development|positive regulation of cell proliferation	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	14					Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Methotrimeprazine(DB01403)|Norepinephrine(DB00368)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)	GGTGGCTTTCGACGGCTGGCG	0.736													T	4202427	G	T	4202427	2	4	527	1	0	0	0	0	0	0	0	1	336	1066	37	4		4	ADRA1D	20	4202427	Silent	SNP	G	TCGA-HT-7483-01A-11D-2024-08		4202427	58823093	15	46850											
CDH4	1002	broad.mit.edu	37	chr20	60419758	60419758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaatgacatccccatccGgtacagcatcacgggagtgg	12	6	11	12	2	1	2	1	1	0	1	3	3	3	3	3	3	2	2	3	3	2	1			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chr20:60419758G>A	ENST00000360469.5	+	5	699	c.611G>A	c.(610-612)cGg>cAg	p.R204Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R130Q	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	204	Cadherin 1.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCCCCATCCGGTACAGCATC	0.607													A	60419758	G	A	60419758	3	1	527	1	0	0	0	0	1	0	0	0	3142	1116	39	1	629	1	CDH4	20	60419758	Missense_Mutation	SNP	G	TCGA-HT-7483-01A-11D-2024-08	56217331	60419758	2605762	16	46851											
ATRX	546	broad.mit.edu	37	chrX	76814319	76814319	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgataaataatcgtcctcTgaaaatgaaaatatagaata	21	11	5	4	1	1	4	0	3	1	1	3	4	2	4	1	0	0	0	1	0	12	5			TCGA-HT-7483-01A-11D-2024-08	TCGA-HT-7483-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd066a89-fa93-434b-b631-9859aa8e4184	a9641072-aa3c-485d-9c1f-0fd571795e54	g.chrX:76814319T>C	ENST00000373344.5	-	29	6541		c.e29-2		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AATCGTCCTCTGAAAATGAAA	0.274			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76814319	T	C	76814319	5	2	527	1	0	0	0	0	0	0	1	0	1213	1594	55	3	1181	3	ATRX	23	76814319	Splice_Site	SNP	T	TCGA-HT-7483-01A-11D-2024-08		76814319	78456241	17	46852											
LRP2	4036	broad.mit.edu	37	chr2	170093662	170093662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggatttgttaggtttttacTaatcagcacagtcctgtggc	8	16	10	7	0	1	0	1	0	0	0	2	1	2	1	1	3	2	3	1	3	3	6	rs140722973	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr2:170093662T>C	ENST00000263816.3	-	28	4927	c.4642A>G	c.(4642-4644)Agt>Ggt	p.S1548G		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1548					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGGTTTTTACTAATCAGCACA	0.383													C	170093662	T	C	170093662	3	2	528	1	0	0	0	0	1	0	0	0	9026	1522	53	3	9533	3	LRP2	2	170093662	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		170093662	73105711	1	46853											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	528	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	39019450	209113112	34086261	2	46854											
WDFY3	23001	broad.mit.edu	37	chr4	85612906	85612906	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgcaagaatacctttatctgTacatacgatttgtcctacag	12	13	6	10	2	1	1	0	0	1	1	2	2	2	1	2	0	4	2	2	0	7	7			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr4:85612906T>C	ENST00000322366.6	-	59	9438	c.9031A>G	c.(9031-9033)Aca>Gca	p.T3011A	WDFY3_ENST00000295888.4_Missense_Mutation_p.T3028A			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	3028						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCTTTATCTGTACATACGATT	0.388													C	85612906	T	C	85612906	3	2	528	1	0	0	0	0	1	0	0	0	17372	1638	57	3	1534	3	WDFY3	4	85612906	Missense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		85612906	105541370	3	46855											
ABCC10	89845	broad.mit.edu	37	chr6	43403556	43403556	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacttcccttgggtgatcaAtggtctcctggaggccaaag	9	10	11	11	0	2	1	1	1	1	0	4	2	3	2	3	4	1	0	3	4	3	2	rs114002465	by1000genomes	TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:43403556A>G	ENST00000244533.3	+	3	1906	c.1547A>G	c.(1546-1548)aAt>aGt	p.N516S	ABCC10_ENST00000372530.4_Missense_Mutation_p.N559S	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	559	ABC transmembrane type-1 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			TGGGTGATCAATGGTCTCCTG	0.572													G	43403556	A	G	43403556	3	3	528	1	0	0	0	0	1	0	0	0	50	101	4	3	1557	3	ABCC10	6	43403556	Missense_Mutation	SNP	A	TCGA-HT-7485-01A-11D-2024-08		43403556	127711511	4	46856											
LGSN	51557	broad.mit.edu	37	chr6	63990506	63990506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcgacatcccagagaCtatgagacaaaatccctgaa	15	8	6	12	1	0	3	0	2	0	2	4	6	3	3	3	0	0	0	3	0	5	2			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr6:63990506C>T	ENST00000370657.4	-	4	983	c.950G>A	c.(949-951)aGt>aAt	p.S317N	LGSN_ENST00000370658.5_Splice_Site			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	317					glutamine biosynthetic process		glutamate-ammonia ligase activity			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34					L-Glutamic Acid(DB00142)	ATCCCAGAGACTATGAGACAA	0.433													T	63990506	C	T	63990506	3	4	528	1	0	0	0	0	1	0	0	0	8819	579	20	2	583	2	LGSN	6	63990506	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	20586950	63990506	107124561	5	46857											
TRIP6	7205	broad.mit.edu	37	chr7	100469261	100469261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctggctgcttcacctgcGtggtgtgtcaccgcggcctc	3	10	12	16	3	2	0	2	0	0	0	3	0	2	0	4	3	2	2	4	3	0	1			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr7:100469261G>A	ENST00000200457.4	+	7	1456	c.1096G>A	c.(1096-1098)Gtg>Atg	p.V366M		NM_003302.2	NP_003293.2	Q15654	TRIP6_HUMAN	thyroid hormone receptor interactor 6	366	LIM zinc-binding 2.				focal adhesion assembly|positive regulation of cell migration|regulation of transcription, DNA-dependent|release of cytoplasmic sequestered NF-kappaB|transcription, DNA-dependent	cytoplasm|cytoskeleton|focal adhesion|nucleus	identical protein binding|interleukin-1 receptor binding|kinase binding|thyroid hormone receptor binding|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|liver(1)|lung(5)	14	Lung NSC(181;0.041)|all_lung(186;0.0581)					CTTCACCTGCGTGGTGTGTCA	0.632													A	100469261	G	A	100469261	3	1	528	1	0	0	0	0	1	0	0	0	16660	1145	40	1	1122	1	TRIP6	7	100469261	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		100469261	58669402	6	46858											
VWF	7450	broad.mit.edu	37	chr12	6155976	6155976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagtgcatgaagccatcctCacagtagctgcagagaagaa	15	6	10	10	0	1	3	1	1	0	2	2	4	2	3	2	0	4	4	2	0	4	1			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:6155976C>T	ENST00000261405.5	-	17	2448	c.2194G>A	c.(2194-2196)Gag>Aag	p.E732K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	732					blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	AAGCCATCCTCACAGTAGCTG	0.557													T	6155976	C	T	6155976	3	4	528	1	0	0	0	0	1	0	0	0	17348	835	29	2	6391	2	VWF	12	6155976	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		6155976	127695919	7	46859											
EMG1	10436	broad.mit.edu	37	chr12	7080212	7080213	+	Splice_Site	INS	-	-	C																															acaagatcggaggccgtagtINSttattgtggtgctggaaggg																								rs36063533		TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr12:7080212_7080213insC	ENST00000261406.6	+	2	267_268	c.124_125insC	c.(124-126)ttt>tCtt	p.F42fs	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										GAGGCCGTAGTTTATTGTGGTG	0.569													C	7080213	-	C	7080212	8	5	528	1	0	1	1	0	0	0	1	0	5131	1722	60	0	128	0	EMG1	12	7080212	Splice_Site	INS	-	TCGA-HT-7485-01A-11D-2024-08	924236	7080212	126771683	8	46860											
MCTP2	55784	broad.mit.edu	37	chr15	94901781	94901781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacttctctgacaggatggGcattttggacattgaagtgt	9	14	11	7	0	1	2	0	2	1	0	2	4	1	4	0	3	1	1	0	3	2	5			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr15:94901781G>A	ENST00000357742.4	+	9	1241	c.1241G>A	c.(1240-1242)gGc>gAc	p.G414D	MCTP2_ENST00000331706.4_Missense_Mutation_p.G2D|MCTP2_ENST00000451018.3_Missense_Mutation_p.G414D|MCTP2_ENST00000543482.1_Silent_p.G392G|MCTP2_ENST00000557742.1_Missense_Mutation_p.G2D	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	414	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			GACAGGATGGGCATTTTGGAC	0.453													A	94901781	G	A	94901781	3	1	528	1	0	0	0	0	1	0	0	0	9476	1203	42	2	1275	2	MCTP2	15	94901781	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08		94901781	7629611	9	46861											
ACAP1	9744	broad.mit.edu	37	chr17	7250531	7250531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcatcaaccttggtgtcaCcctctgcattcagtgttccg	7	12	8	14	1	4	0	3	0	1	0	5	0	5	0	3	1	3	3	3	1	1	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7250531C>T	ENST00000158762.3	+	14	1519	c.1313C>T	c.(1312-1314)aCc>aTc	p.T438I		NM_014716.3	NP_055531.1	Q15027	ACAP1_HUMAN	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1	438	Arf-GAP.|Required for interaction with GULP1.				intracellular signal transduction|lipid metabolic process|protein transport|regulation of ARF GTPase activity		ARF GTPase activator activity|phospholipase C activity|protein binding|zinc ion binding			NS(1)|breast(5)|cervix(3)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(3)|skin(1)|urinary_tract(1)	33						CTTGGTGTCACCCTCTGCATT	0.642													T	7250531	C	T	7250531	3	4	528	1	0	0	0	0	1	0	0	0	118	507	18	2	1367	2	ACAP1	17	7250531	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		7250531	73944679	10	46862											
TP53	7157	broad.mit.edu	37	chr17	7578203	7578203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcatagggcaccaccaCactatgtcgaaaagtgtttc	11	9	9	12	2	1	0	1	0	0	0	3	1	1	0	2	2	0	3	2	2	4	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:7578203C>T	ENST00000420246.2	-	6	778	c.646G>A	c.(646-648)Gtg>Atg	p.V216M	TP53_ENST00000455263.2_Missense_Mutation_p.V216M|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.V216M|TP53_ENST00000445888.2_Missense_Mutation_p.V216M|TP53_ENST00000269305.4_Missense_Mutation_p.V216M|TP53_ENST00000359597.4_Missense_Mutation_p.V216M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	216	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V216M(61)|p.V216del(8)|p.0?(8)|p.V216L(7)|p.?(5)|p.V84M(3)|p.V123M(3)|p.V216fs*6(2)|p.H214fs*5(2)|p.V216fs*32(1)|p.V216fs*33(1)|p.S215fs*27(1)|p.S215fs*29(1)|p.V216fs*5(1)|p.V216_Y220delVVVPY(1)|p.D208_V216delDRNTFRHSV(1)|p.D208fs*1(1)|p.S215fs*31(1)|p.S215_V216insX(1)|p.T211fs*28(1)|p.D207_V216del10(1)|p.S215_V218>R(1)|p.S215_V218>M(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)		GGCACCACCACACTATGTCGA	0.537		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)			T	7578203	C	T	7578203	3	4	528	1	0	0	0	0	1	0	0	0	16482	478	17	2	648	2	TP53	17	7578203	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08	327672	7578203	73617007	11	46863											
MYH10	4628	broad.mit.edu	37	chr17	8424575	8424575	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgtctcagtcataccagtGacttgatccagacccacgat	10	10	8	13	1	2	3	2	2	1	1	4	4	3	3	3	0	1	1	3	0	1	2			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr17:8424575G>A	ENST00000360416.3	-	18	2124	c.1986C>T	c.(1984-1986)gtC>gtT	p.V662V	MYH10_ENST00000396239.1_Silent_p.V652V|MYH10_ENST00000269243.4_Silent_p.V631V|MYH10_ENST00000379980.4_Silent_p.V647V	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	631	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TCATACCAGTGACTTGATCCA	0.463													A	8424575	G	A	8424575	2	1	528	1	0	0	0	0	0	0	0	1	10106	1277	45	2		2	MYH10	17	8424575	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08	846372	8424575	72770635	12	46864											
DSC1	1823	broad.mit.edu	37	chr18	28725703	28725703	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatggagagtgtcaggttcGtcaaggtctgtggcggtcac	7	11	16	7	2	4	1	3	0	1	1	5	2	4	1	0	5	0	2	0	5	2	2			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr18:28725703G>A	ENST00000257197.3	-	7	1071	c.810C>T	c.(808-810)gaC>gaT	p.D270D	DSC1_ENST00000257198.5_Silent_p.D270D|RP11-408H20.2_ENST00000581836.1_RNA	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	270	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TGTCAGGTTCGTCAAGGTCTG	0.368													A	28725703	G	A	28725703	2	1	528	1	0	0	0	0	0	0	0	1	4804	1136	40	1		1	DSC1	18	28725703	Silent	SNP	G	TCGA-HT-7485-01A-11D-2024-08		28725703	49351545	13	46865											
SEMA6B	10501	broad.mit.edu	37	chr19	4556083	4556083	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgaaggagcagcacctttaCgaagtttcgacactcgccct	10	8	9	14	4	0	0	0	0	0	0	2	4	0	1	3	1	3	3	3	1	3	3			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chr19:4556083C>T	ENST00000586582.1	-	6	698	c.388G>A	c.(388-390)Gta>Ata	p.V130I	SEMA6B_ENST00000586965.1_Missense_Mutation_p.V130I|SEMA6B_ENST00000301293.3_Missense_Mutation_p.V130I	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	130	Sema.				cell differentiation|nervous system development	integral to membrane	receptor activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		AGCACCTTTACGAAGTTTCGA	0.607													T	4556083	C	T	4556083	3	4	528	1	0	0	0	0	1	0	0	0	14133	536	19	1	2326	1	SEMA6B	19	4556083	Missense_Mutation	SNP	C	TCGA-HT-7485-01A-11D-2024-08		4556083	54572900	14	46866											
ATRX	546	broad.mit.edu	37	chrX	76940489	76940489	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcatcactcatgtaatactTaaagcaattctattaaaaga	18	13	3	7	0	4	1	3	0	1	1	4	1	4	1	0	0	2	2	0	0	8	6			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:76940489T>A	ENST00000373344.5	-	8	818	c.604A>T	c.(604-606)Aag>Tag	p.K202*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.K164*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	202	ADD.				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)	ATGTAATACTTAAAGCAATTC	0.284			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76940489	T	A	76940489	4	1	528	1	0	0	0	0	0	1	0	0	1213	1763	61	5	6986	5	ATRX	23	76940489	Nonsense_Mutation	SNP	T	TCGA-HT-7485-01A-11D-2024-08		76940489	78330071	15	46867											
GPR112	139378	broad.mit.edu	37	chrX	135432487	135432487	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatccttttacagcaactGtgtcttcaccaatatcgtcc	10	14	4	13	1	2	0	1	0	1	0	5	0	4	0	3	0	3	1	3	0	5	5			TCGA-HT-7485-01A-11D-2024-08	TCGA-HT-7485-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28d430d8-4932-45cf-b3c8-68c71b66f791	316fe91a-955f-4b60-ad58-0aa32781a502	g.chrX:135432487G>C	ENST00000394143.1	+	6	6913	c.6622G>C	c.(6622-6624)Gtg>Ctg	p.V2208L	GPR112_ENST00000370652.1_Missense_Mutation_p.V2208L|GPR112_ENST00000394141.1_Missense_Mutation_p.V2003L|GPR112_ENST00000287534.4_Missense_Mutation_p.V2145L|GPR112_ENST00000412101.1_Missense_Mutation_p.V2003L	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	2208					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TACAGCAACTGTGTCTTCACC	0.453													C	135432487	G	C	135432487	3	2	528	1	0	0	0	0	1	0	0	0	6683	1377	48	4	6632	4	GPR112	23	135432487	Missense_Mutation	SNP	G	TCGA-HT-7485-01A-11D-2024-08	58491998	135432487	19838073	16	46868											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	529	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		209113112	34086261	1	46869											
PLD1	5337	broad.mit.edu	37	chr3	171427368	171427368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatttagctaaagcattcTcttggatagcagcatatgac	13	12	7	9	0	1	1	0	1	1	0	2	2	1	2	1	1	4	4	1	1	5	7			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr3:171427368T>C	ENST00000356327.5	-	10	1113	c.1043A>G	c.(1042-1044)gAg>gGg	p.E348G	PLD1_ENST00000340989.4_Missense_Mutation_p.E348G|PLD1_ENST00000342215.6_Missense_Mutation_p.E348G|PLD1_ENST00000351298.4_Missense_Mutation_p.E348G	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	348					cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	TAAAGCATTCTCTTGGATAGC	0.413													C	171427368	T	C	171427368	3	2	529	1	0	0	0	0	1	0	0	0	12122	1551	54	3	2253	3	PLD1	3	171427368	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08		171427368	26595062	2	46870											
APBB2	323	broad.mit.edu	37	chr4	41015610	41015610	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggtacctgtttcatcCggggagctgggtgaggcact	6	9	16	10	1	1	1	1	1	0	0	2	2	2	2	3	6	2	4	3	6	1	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr4:41015610C>T	ENST00000295974.8	-	6	1454	c.825G>A	c.(823-825)ccG>ccA	p.P275P	APBB2_ENST00000513140.1_Silent_p.P275P|APBB2_ENST00000506352.1_Silent_p.P275P|APBB2_ENST00000508593.1_Silent_p.P275P	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	275					cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						CTGTTTCATCCGGGGAGCTGG	0.512													T	41015610	C	T	41015610	2	4	529	1	0	0	0	0	0	0	0	1	763	639	23	1		1	APBB2	4	41015610	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		41015610	150138666	3	46871											
GABRA1	2554	broad.mit.edu	37	chr5	161324271	161324271	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggtcaagcccgaaacaaAaccaccagaacccaagaaaa	21	1	7	12	1	1	3	1	0	0	3	1	4	1	3	4	1	4	0	4	1	8	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr5:161324271A>T	ENST00000428797.2	+	11	1569	c.1214A>T	c.(1213-1215)aAa>aTa	p.K405I	GABRA1_ENST00000420560.1_Missense_Mutation_p.K405I|GABRA1_ENST00000023897.6_Missense_Mutation_p.K405I|GABRA1_ENST00000393943.4_Missense_Mutation_p.K405I|GABRA1_ENST00000444819.1_Missense_Mutation_p.K405I|GABRA1_ENST00000437025.2_Missense_Mutation_p.K405I	NM_001127643.1	NP_001121115.1	P14867	GBRA1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 1	405					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|endometrium(2)|kidney(3)|large_intestine(4)|liver(1)|lung(22)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(1)	42	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.228)	Alprazolam(DB00404)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ethanol(DB00898)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Halazepam(DB00801)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Metharbital(DB00463)|Methohexital(DB00474)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Picrotoxin(DB00466)|Prazepam(DB01588)|Primidone(DB00794)|Progabide(DB00837)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Thiamylal(DB01154)|Thiopental(DB00599)|Topiramate(DB00273)|Zaleplon(DB00962)|Zolpidem(DB00425)	CCCGAAACAAAACCACCAGAA	0.473													T	161324271	A	T	161324271	3	4	529	1	0	0	0	0	1	0	0	0	6212	14	1	5	1248	5	GABRA1	5	161324271	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		161324271	19590989	4	46872											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34803152	34803152	+	Frame_Shift_Del	DEL	A	A	-																															tgctgactgactcacagctcAaggctatgatgaagtatgca																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:34803152delA	ENST00000192788.5	+	7	922	c.751delA	c.(751-753)aagfs	p.K251fs	UHRF1BP1_ENST00000452449.2_Frame_Shift_Del_p.K251fs	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	251										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTCACAGCTCAAGGCTATGAT	0.493													-	34803152	A	-	34803152	7	5	529	1	0	1	0	1	0	0	0	0	17070	131	5	0	777	0	UHRF1BP1	6	34803152	Frame_Shift_Del	DEL	A	TCGA-HT-7601-01A-11D-2086-08		34803152	136311915	5	46873											
TCP10L2	401285	broad.mit.edu	37	chr6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatcttcccgaagtcTgcaaaactccggtggcagaa	11	8	9	13	2	2	1	0	0	2	1	5	2	5	1	3	2	2	3	3	2	4	1	rs2989545	by1000genomes	TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602													C	167592524	T	C	167592524	3	2	529	1	0	0	0	0	1	0	0	0	15812	1580	55	3	701	3	TCP10L2	6	167592524	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	132789372	167592524	3522543	6	46874											
AOAH	313	broad.mit.edu	37	chr7	36570027	36570027	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacaaagctacttactttCatggaaggcaaaatccatgt	16	10	6	9	0	1	0	1	0	0	0	2	1	2	1	1	2	4	2	1	2	7	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:36570027C>A	ENST00000431169.1	-	19	1819	c.1519G>T	c.(1519-1521)Gaa>Taa	p.E507*	AOAH_ENST00000538464.1_Nonsense_Mutation_p.E229*|AOAH_ENST00000258749.5_Nonsense_Mutation_p.E507*|AOAH_ENST00000535891.1_Nonsense_Mutation_p.E475*	NM_001177506.1	NP_001170977.1	P28039	AOAH_HUMAN	acyloxyacyl hydrolase (neutrophil)	507					inflammatory response|lipid metabolic process	extracellular region	acyloxyacyl hydrolase activity|lipoprotein lipase activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(3)|lung(21)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	41						TACTTACTTTCATGGAAGGCA	0.408													A	36570027	C	A	36570027	4	1	529	1	0	0	0	0	0	1	0	0	728	835	29	4	561	4	AOAH	7	36570027	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		36570027	122568636	7	46875											
NOM1	64434	broad.mit.edu	37	chr7	156742958	156742958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcccggaaacgggcgctttTagcggcgaacgaggaggagg	9	5	18	9	6	0	0	0	0	0	0	0	5	0	3	1	6	4	1	1	6	3	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr7:156742958T>C	ENST00000275820.3	+	1	542	c.527T>C	c.(526-528)tTa>tCa	p.L176S		NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	176	Necessary for nucleolar localization and for targeting PPP1CA to the nucleolus.				RNA metabolic process	nucleolus	protein binding			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		CGGGCGCTTTTAGCGGCGAAC	0.672													C	156742958	T	C	156742958	3	2	529	1	0	0	0	0	1	0	0	0	10606	1764	61	3	529	3	NOM1	7	156742958	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	120172931	156742958	2395705	8	46876											
KCNB2	9312	broad.mit.edu	37	chr8	73849082	73849082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtggaagtgggccaggaagGctctgtcggaaacaagctcc	10	6	16	9	1	1	0	0	0	1	0	3	3	2	3	2	6	2	2	2	6	4	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:73849082G>C	ENST00000523207.1	+	3	2080	c.1492G>C	c.(1492-1494)Gct>Cct	p.A498P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	498					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGCCAGGAAGGCTCTGTCGGA	0.542													C	73849082	G	C	73849082	3	2	529	1	0	0	0	0	1	0	0	0	8071	1203	42	4	1498	4	KCNB2	8	73849082	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		73849082	72514940	9	46877											
TCEB1	6921	broad.mit.edu	37	chr8	74858991	74858991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaaatacatgcatactttCgatagcacatgtgaaggtat	15	12	8	6	1	0	1	0	1	0	0	1	2	0	1	0	1	4	4	0	1	7	6			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:74858991C>T	ENST00000518127.1	-	4	305	c.213G>A	c.(211-213)tcG>tcA	p.S71S	TCEB1_ENST00000284811.8_Silent_p.S71S|TCEB1_ENST00000523815.1_Silent_p.S71S|TCEB1_ENST00000519487.1_Silent_p.S71S|TCEB1_ENST00000602840.1_Intron|TCEB1_ENST00000522337.1_Silent_p.S71S|TCEB1_ENST00000520210.1_Silent_p.S55S|TCEB1_ENST00000520242.1_Silent_p.S71S	NM_001204857.1|NM_001204858.1|NM_001204859.1|NM_001204860.1|NM_001204862.1	NP_001191786.1|NP_001191787.1|NP_001191788.1|NP_001191789.1|NP_001191791.1	Q15369	ELOC_HUMAN	transcription elongation factor B (SIII), polypeptide 1 (15kDa, elongin C)	71					interspecies interaction between organisms|positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|ubiquitin-dependent protein catabolic process|viral reproduction	cytosol|nucleoplasm	protein binding			endometrium(2)|kidney(3)|lung(1)|prostate(1)	7	Breast(64;0.0311)		Epithelial(68;0.0136)|all cancers(69;0.0431)|BRCA - Breast invasive adenocarcinoma(89;0.0499)			TGCATACTTTCGATAGCACAT	0.398													T	74858991	C	T	74858991	2	4	529	1	0	0	0	0	0	0	0	1	15779	871	31	1		1	TCEB1	8	74858991	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	1009909	74858991	71505031	10	46878											
COL14A1	7373	broad.mit.edu	37	chr8	121238908	121238908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttagaaattgatgaggtgaCgacagacagttttagggtga	13	11	13	4	1	0	6	0	4	0	2	0	7	0	6	0	2	0	1	0	2	3	4			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:121238908C>T	ENST00000297848.3	+	16	2177	c.1907C>T	c.(1906-1908)aCg>aTg	p.T636M	COL14A1_ENST00000309791.4_Missense_Mutation_p.T636M|COL14A1_ENST00000432943.2_3'UTR|COL14A1_ENST00000537875.1_3'UTR|COL14A1_ENST00000247781.3_Missense_Mutation_p.T541M	NM_021110.1	NP_066933.1	Q05707	COEA1_HUMAN	collagen, type XIV, alpha 1	636	Fibronectin type-III 5.		T -> A (in dbSNP:rs56815167).		cell-cell adhesion|collagen fibril organization	collagen type XIV|extracellular space	collagen binding|extracellular matrix structural constituent|protein binding, bridging			NS(1)|autonomic_ganglia(1)|breast(11)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(9)|large_intestine(31)|lung(42)|ovary(5)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	119	Lung NSC(37;6.52e-07)|Ovarian(258;0.00769)|Hepatocellular(40;0.161)		OV - Ovarian serous cystadenocarcinoma(1;6.47e-38)|STAD - Stomach adenocarcinoma(47;0.00503)			GATGAGGTGACGACAGACAGT	0.483													T	121238908	C	T	121238908	3	4	529	1	0	0	0	0	1	0	0	0	3702	536	19	1	1965	1	COL14A1	8	121238908	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	46379917	121238908	25125114	11	46879											
KIAA0196	9897	broad.mit.edu	37	chr8	126075804	126075804	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggtttcactcctgaaaaGacatcagcaagctcagtcat	13	9	9	10	0	4	2	4	1	0	1	5	2	5	2	1	2	2	3	1	2	3	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr8:126075804G>C	ENST00000318410.7	-	11	1717	c.1368C>G	c.(1366-1368)gtC>gtG	p.V456V	KIAA0196_ENST00000517845.1_Silent_p.V308V	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	456					cell death	WASH complex				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			CTCCTGAAAAGACATCAGCAA	0.423													C	126075804	G	C	126075804	2	2	529	1	0	0	0	0	0	0	0	1	8219	929	33	4		4	KIAA0196	8	126075804	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4836896	126075804	20288218	12	46880											
IFNA21	3452	broad.mit.edu	37	chr9	21166611	21166611	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagaaaaggacagggccaTtgggatgttgccaatattgc	14	9	12	6	0	0	1	0	0	0	1	0	3	0	3	2	3	2	1	2	3	6	5			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr9:21166611T>C	ENST00000380225.1	-	1	48	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	1					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		GACAGGGCCATTGGGATGTTG	0.488													C	21166611	T	C	21166611	1	2	529	1	0	0	0	0	0	0	0	0	7596	1493	52	3		3	IFNA21	9	21166611	Translation_Start_Site	SNP	T	TCGA-HT-7601-01A-11D-2086-08		21166611	120046820	13	46881											
ABTB2	25841	broad.mit.edu	37	chr11	34182569	34182569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgcaccaccgagtaccGcgactgcgagaacgaggtcc	9	5	12	15	5	1	1	0	0	1	1	2	5	2	1	4	1	4	3	4	1	2	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:34182569G>A	ENST00000435224.2	-	11	2702	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	ABTB2_ENST00000298992.2_Missense_Mutation_p.R574W	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	574							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				ACCGAGTACCGCGACTGCGAG	0.617													A	34182569	G	A	34182569	3	1	529	1	0	0	0	0	1	0	0	0	103	1086	38	1	827	1	ABTB2	11	34182569	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		34182569	100823947	14	46882											
CPSF7	79869	broad.mit.edu	37	chr11	61183777	61183777	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggataccaggaggaggaggAgggaccccaaagcttgagga	13	4	17	7	0	0	1	0	1	0	0	0	8	0	8	3	7	2	1	3	7	2	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:61183777A>G	ENST00000340437.4	-	6	974	c.894T>C	c.(892-894)ccT>ccC	p.P298P	CPSF7_ENST00000394888.4_Silent_p.P255P|CPSF7_ENST00000439958.3_Silent_p.P246P|CPSF7_ENST00000448745.1_Silent_p.P246P	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	255	Pro-rich.				mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						GAGGAGGAGGAGGGACCCCAA	0.617													G	61183777	A	G	61183777	2	3	529	1	0	0	0	0	0	0	0	1	3861	291	11	3		3	CPSF7	11	61183777	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27001208	61183777	73822739	15	46883											
PITPNM1	9600	broad.mit.edu	37	chr11	67269773	67269773	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcctcacccaggatgcgCtgtctcctctcggccccgct	4	8	10	19	3	3	0	1	0	2	0	5	1	3	1	5	3	1	2	5	3	0	0			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:67269773C>T	ENST00000356404.3	-	4	630	c.405G>A	c.(403-405)caG>caA	p.Q135Q	PITPNM1_ENST00000534749.1_Silent_p.Q135Q|PITPNM1_ENST00000436757.2_Silent_p.Q135Q	NM_001130848.1|NM_004910.2	NP_001124320.1|NP_004901.2	O00562	PITM1_HUMAN	phosphatidylinositol transfer protein, membrane-associated 1	135					brain development|lipid metabolic process|phototransduction|protein transport	cleavage furrow|endoplasmic reticulum membrane|Golgi cisterna membrane|lipid particle|membrane fraction|midbody	metal ion binding|phosphatidylinositol transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(3)	18						CCAGGATGCGCTGTCTCCTCT	0.612													T	67269773	C	T	67269773	2	4	529	1	0	0	0	0	0	0	0	1	12027	796	28	2		2	PITPNM1	11	67269773	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08	6085996	67269773	67736743	16	46884											
HEPHL1	341208	broad.mit.edu	37	chr11	93822035	93822035	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagcagcggtacgggatgaTaagaactttttacatcgccg	11	10	12	8	4	0	3	0	2	0	1	1	4	0	4	1	2	5	2	1	2	4	5			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr11:93822035T>C	ENST00000315765.9	+	12	2203	c.2195T>C	c.(2194-2196)aTa>aCa	p.I732T		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	732	Plastocyanin-like 5.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TACGGGATGATAAGAACTTTT	0.517													C	93822035	T	C	93822035	3	2	529	1	0	0	0	0	1	0	0	0	7110	1406	49	3	2241	3	HEPHL1	11	93822035	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	26552262	93822035	41184481	17	46885											
ACVRL1	94	broad.mit.edu	37	chr12	52309001	52309008	+	Splice_Site	DEL	GCACACAG	GCACACAG	-																															ctgagtcacccaacctttctGcacacaggcttcatcgcctc																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr12:52309001_52309008delGCACACAG	ENST00000550683.1	+	6	915		c.e6-1		ACVRL1_ENST00000388922.4_Splice_Site|ACVRL1_ENST00000419526.2_Splice_Site	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1						blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CAACCTTTCTGCACACAGGCTTCATCGC	0.615													-	52309008	GCACACAG	-	52309001	8	5	529	1	0	1	0	1	0	0	1	0	225	1334	46	0		0	ACVRL1	12	52309001	Splice_Site	DEL	GCACACAG	TCGA-HT-7601-01A-11D-2086-08		52309001	81542894	18	46886											
GJB2	2706	broad.mit.edu	37	chr13	20763148	20763148	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actgcaatcatgaacactgtGaagacagtcttctccgtggg	11	10	10	10	1	3	3	1	2	2	1	4	3	3	3	1	1	2	1	1	1	3	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763148G>A	ENST00000382844.1	-	1	771	c.573C>T	c.(571-573)ttC>ttT	p.F191F	GJB2_ENST00000382848.4_Silent_p.F191F			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	191			F -> L.		cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TGAACACTGTGAAGACAGTCT	0.488									Keratitis, Ichthyosis and Deafness syndrome				A	20763148	G	A	20763148	2	1	529	1	0	0	0	0	0	0	0	1	6464	1281	45	2		2	GJB2	13	20763148	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08		20763148	94406730	19	46887											
GJB2	2706	broad.mit.edu	37	chr13	20763400	20763400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcactctttatctcccccttGatgaacttcctcttcttctc	5	18	2	16	0	6	2	1	2	5	0	9	2	7	2	3	0	1	0	3	0	2	6	rs111033253		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:20763400G>C	ENST00000382844.1	-	1	519	c.321C>G	c.(319-321)atC>atG	p.I107M	GJB2_ENST00000382848.4_Missense_Mutation_p.I107M			P29033	CXB2_HUMAN	gap junction protein, beta 2, 26kDa	107					cell-cell signaling|cellular membrane organization|gap junction assembly|sensory perception of sound|transport	connexon complex|ER-Golgi intermediate compartment|integral to membrane				breast(1)|endometrium(2)|large_intestine(1)|lung(2)|skin(1)	7		all_cancers(29;3.95e-22)|all_epithelial(30;2.36e-19)|all_lung(29;2.27e-18)|Lung SC(185;0.0257)|Ovarian(182;0.0822)		all cancers(112;0.000435)|Epithelial(112;0.000722)|OV - Ovarian serous cystadenocarcinoma(117;0.0096)|Lung(94;0.0236)|LUSC - Lung squamous cell carcinoma(192;0.0738)		TCTCCCCCTTGATGAACTTCC	0.547									Keratitis, Ichthyosis and Deafness syndrome		OREG0022282	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	20763400	G	C	20763400	3	2	529	1	0	0	0	0	1	0	0	0	6464	1280	45	4	363	4	GJB2	13	20763400	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	252	20763400	94406478	20	46888											
IPO5	3843	broad.mit.edu	37	chr13	98658457	98658457	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagttgccgatactgcagAagaaaaatttgtcccctact	13	11	7	10	1	1	2	1	0	0	2	2	3	2	2	3	0	4	2	3	0	5	4			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr13:98658457A>G	ENST00000261574.5	+	17	1805	c.1625A>G	c.(1624-1626)gAa>gGa	p.E542G	IPO5_ENST00000493492.2_3'UTR|IPO5_ENST00000490680.1_Missense_Mutation_p.E524G|IPO5_ENST00000539640.1_Missense_Mutation_p.E399G	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	524					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GATACTGCAGAAGAAAAATTT	0.388													G	98658457	A	G	98658457	3	3	529	1	0	0	0	0	1	0	0	0	7854	246	9	3	1683	3	IPO5	13	98658457	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	77895057	98658457	16511421	21	46889											
TCF12	6938	broad.mit.edu	37	chr15	57555366	57555369	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															cagaaatcaagactgaaaacAaagaaaaggatgaaaacctt																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:57555366_57555369delAAAG	ENST00000267811.5	+	17	1871_1874	c.1567_1570delAAAG	c.(1567-1572)aaagaafs	p.KE523fs	TCF12_ENST00000438423.2_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.KE523fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.KE287fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.KE543fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.KE377fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.KE547fs|TCF12_ENST00000559710.1_Frame_Shift_Del_p.KE157fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.KE353fs|TCF12_ENST00000559703.1_Frame_Shift_Del_p.KE181fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	523				K -> E (in Ref. 3; CAD89914).	immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GACTGAAAACAAAGAAAAGGATGA	0.382			T	TEC	extraskeletal myxoid chondrosarcoma								-	57555369	AAAG	-	57555366	7	5	529	1	0	1	0	1	0	0	0	0	15787	131	5	0	1778	0	TCF12	15	57555366	Frame_Shift_Del	DEL	AAAG	TCGA-HT-7601-01A-11D-2086-08		57555366	44976026	22	46890											
MCTP2	55784	broad.mit.edu	37	chr15	94841633	94841633	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcatcacttggaccgcCgtctcagcctctctgtgcct	6	10	9	16	2	3	0	2	0	2	0	5	1	3	1	4	2	2	1	4	2	1	1			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr15:94841633C>T	ENST00000357742.4	+	1	139	c.139C>T	c.(139-141)Cgt>Tgt	p.R47C	MCTP2_ENST00000331706.4_5'UTR|MCTP2_ENST00000451018.3_Missense_Mutation_p.R47C|MCTP2_ENST00000543482.1_Missense_Mutation_p.R47C	NM_018349.3	NP_060819.3	Q6DN12	MCTP2_HUMAN	multiple C2 domains, transmembrane 2	47					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|liver(1)|lung(12)|ovary(1)|pancreas(1)|skin(9)|stomach(2)	49	Lung NSC(78;0.0821)|all_lung(78;0.148)		BRCA - Breast invasive adenocarcinoma(143;0.0323)|OV - Ovarian serous cystadenocarcinoma(32;0.0593)			CTTGGACCGCCGTCTCAGCCT	0.592													T	94841633	C	T	94841633	3	4	529	1	0	0	0	0	1	0	0	0	9476	652	23	1	141	1	MCTP2	15	94841633	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	37286267	94841633	7689759	23	46891											
CPNE2	221184	broad.mit.edu	37	chr16	57147304	57147304	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaagctcaagttcgcgctCtttgaccaggacaagtccag	11	8	10	12	2	2	2	1	1	1	1	4	3	3	3	2	1	1	3	2	1	3	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr16:57147304C>G	ENST00000535318.2	+	4	646	c.285C>G	c.(283-285)ctC>ctG	p.L95L	CPNE2_ENST00000565874.1_Silent_p.L95L|CPNE2_ENST00000290776.8_Silent_p.L95L|CPNE2_ENST00000537605.1_5'UTR			Q96FN4	CPNE2_HUMAN	copine II	95	C2 1.									central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)|skin(5)	21		all_neural(199;0.224)				AGTTCGCGCTCTTTGACCAGG	0.582													G	57147304	C	G	57147304	2	3	529	1	0	0	0	0	0	0	0	1	3843	900	32	4		4	CPNE2	16	57147304	Silent	SNP	C	TCGA-HT-7601-01A-11D-2086-08		57147304	33207449	24	46892											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	529	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		7577121	73618089	25	46893											
SLC6A4	6532	broad.mit.edu	37	chr17	28545875	28545875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatttcggtggtactgtcCcagtgcgagctccatgtaaa	8	12	10	11	2	0	0	0	0	0	0	4	1	3	0	3	2	3	3	3	2	3	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:28545875C>T	ENST00000401766.2	-	3	930	c.418G>A	c.(418-420)Gga>Aga	p.G140R	SLC6A4_ENST00000261707.3_Missense_Mutation_p.G140R			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	140					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	TGGTACTGTCCCAGTGCGAGC	0.507													T	28545875	C	T	28545875	3	4	529	1	0	0	0	0	1	0	0	0	14780	632	22	2	1522	2	SLC6A4	17	28545875	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	20968754	28545875	52649335	26	46894											
SMARCE1	6605	broad.mit.edu	37	chr17	38792704	38792704	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcttcatcagtgagatctcgCcacatgccaccaataatctt	11	12	5	13	1	5	1	2	1	3	1	6	2	5	1	3	0	1	0	3	0	2	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:38792704C>T	ENST00000348513.6	-	6	1092	c.312G>A	c.(310-312)tgG>tgA	p.W104*	SMARCE1_ENST00000578044.1_Nonsense_Mutation_p.W34*|SMARCE1_ENST00000431889.2_Nonsense_Mutation_p.W86*|SMARCE1_ENST00000400122.3_Nonsense_Mutation_p.W34*|KRT222_ENST00000476049.1_3'UTR|SMARCE1_ENST00000377808.4_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000580419.1_Nonsense_Mutation_p.W69*|SMARCE1_ENST00000544009.1_Nonsense_Mutation_p.W34*	NM_003079.4	NP_003070.3	Q969G3	SMCE1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1	104					chromatin modification|negative regulation of transcription, DNA-dependent|nervous system development|nucleosome disassembly|regulation of transcription from RNA polymerase II promoter	nBAF complex|npBAF complex|nuclear chromosome|SWI/SNF complex|transcriptional repressor complex	chromatin binding|DNA binding|N-acetyltransferase activity|protein binding|protein N-terminus binding|transcription coactivator activity			large_intestine(1)	1		Breast(137;0.000812)				TGAGATCTCGCCACATGCCAC	0.408													T	38792704	C	T	38792704	4	4	529	1	0	0	0	0	0	1	0	0	14874	740	26	2	947	2	SMARCE1	17	38792704	Nonsense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08	10246829	38792704	42402506	27	46895											
PRKAR1A	5573	broad.mit.edu	37	chr17	66525030	66525030	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtctctggacaagtgggaAcgtcttacggtagctgatgc	9	10	14	8	2	2	1	0	1	2	0	3	4	2	3	0	3	4	2	0	3	4	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:66525030A>T	ENST00000589228.1	+	9	917	c.789A>T	c.(787-789)gaA>gaT	p.E263D	PRKAR1A_ENST00000588188.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000392711.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000586397.1_Missense_Mutation_p.E263D|PRKAR1A_ENST00000358598.2_Missense_Mutation_p.E263D|PRKAR1A_ENST00000536854.2_Missense_Mutation_p.E263D	NM_001276289.1|NM_001278433.1	NP_001263218.1|NP_001265362.1	P10644	KAP0_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, alpha	263					activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|intracellular signal transduction|nerve growth factor receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter|transmembrane transport|water transport	cAMP-dependent protein kinase complex|cytosol	cAMP binding|cAMP-dependent protein kinase regulator activity|protein binding			adrenal_gland(4)|breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(8)|soft_tissue(2)|stomach(2)|testis(1)|thyroid(2)|upper_aerodigestive_tract(1)	31	Breast(10;1.64e-13)					ACAAGTGGGAACGTCTTACGG	0.398			"T, Mis, N, F, S"	RET	papillary thyroid	"myxoma, endocrine, papillary thyroid"			Primary Pigmented Nodular Adrenocortical Disease, Familial;Carney Complex;Cardiac Myxomas, Familial Clustering of				T	66525030	A	T	66525030	3	4	529	1	0	0	0	0	1	0	0	0	12589	40	2	5	819	5	PRKAR1A	17	66525030	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08	27732326	66525030	14670180	28	46896											
SDK2	54549	broad.mit.edu	37	chr17	71418471	71418471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttccccacgtcgttgacgGcacaaagacggaactggtag	10	8	11	12	4	0	2	0	1	0	1	2	3	1	3	2	3	1	3	2	3	3	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:71418471G>A	ENST00000392650.3	-	15	2000	c.2000C>T	c.(1999-2001)gCc>gTc	p.A667V	SDK2_ENST00000388726.3_Missense_Mutation_p.A667V	NM_001144952.1	NP_001138424.1	Q58EX2	SDK2_HUMAN	sidekick cell adhesion molecule 2	667	Fibronectin type-III 1.				cell adhesion	integral to membrane				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(15)|lung(31)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	86						GTCGTTGACGGCACAAAGACG	0.617													A	71418471	G	A	71418471	3	1	529	1	0	0	0	0	1	0	0	0	14062	1203	42	2	4642	2	SDK2	17	71418471	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08	4893441	71418471	9776739	29	46897											
LLGL2	3993	broad.mit.edu	37	chr17	73567818	73567818	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgccttctccctgcgtgtGcctcccgccgagcggagaat	5	10	11	15	4	1	1	0	0	1	1	3	3	2	1	5	1	4	0	5	1	2	2			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr17:73567818G>A	ENST00000392550.3	+	18	2364	c.2247G>A	c.(2245-2247)gtG>gtA	p.V749V	LLGL2_ENST00000577200.1_Silent_p.V749V|LLGL2_ENST00000167462.5_Silent_p.V749V	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	749					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			CCCTGCGTGTGCCTCCCGCCG	0.672													A	73567818	G	A	73567818	2	1	529	1	0	0	0	0	0	0	0	1	8895	1306	46	2		2	LLGL2	17	73567818	Silent	SNP	G	TCGA-HT-7601-01A-11D-2086-08	2149347	73567818	7627392	30	46898											
LAMA1	284217	broad.mit.edu	37	chr18	6986294	6986294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttcaatacctccaattcttCcagcggcttctggtaatttt	8	17	5	11	1	3	0	1	0	2	0	5	0	5	0	3	2	2	2	3	2	4	8			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr18:6986294C>T	ENST00000389658.3	-	37	5314	c.5221G>A	c.(5221-5223)Gaa>Aaa	p.E1741K		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1741	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TCCAATTCTTCCAGCGGCTTC	0.428													T	6986294	C	T	6986294	3	4	529	1	0	0	0	0	1	0	0	0	8664	864	30	2	4114	2	LAMA1	18	6986294	Missense_Mutation	SNP	C	TCGA-HT-7601-01A-11D-2086-08		6986294	71090954	31	46899											
LIPE	3991	broad.mit.edu	37	chr19	42930578	42930578	+	Missense_Mutation	SNP	A	A	T																															ggctggagaatctgtgtctgAagatgatcccacatctgatt																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930578A>T	ENST00000244289.4	-	1	1000	c.724T>A	c.(724-726)Tca>Aca	p.S242T	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	242					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TCTGTGTCTGAAGATGATCCC	0.473													T	42930578	A	T	42930578	3	4	529	1	0	0	0	0	1	0	0	0	8882	246	9	5	2546	5	LIPE	19	42930578	Missense_Mutation	SNP	A	TCGA-HT-7601-01A-11D-2086-08		42930578	16198405	32	46900	154	2									
LIPE	3991	broad.mit.edu	37	chr19	42930579	42930579	+	Silent	SNP	A	A	T																															gctggagaatctgtgtctgaAgatgatcccacatctgattc																										TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chr19:42930579A>T	ENST00000244289.4	-	1	999	c.723T>A	c.(721-723)tcT>tcA	p.S241S	LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	241					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				CTGTGTCTGAAGATGATCCCA	0.473													T	42930579	A	T	42930579	2	4	529	1	0	0	0	0	0	0	0	1	8882	59	3	5		5	LIPE	19	42930579	Silent	SNP	A	TCGA-HT-7601-01A-11D-2086-08	1	42930579	16198404	33	46901	154	2									
AKAP4	8852	broad.mit.edu	37	chrX	49957504	49957504	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatatccattttctgggaGtccaggtgttggttctcctt	6	16	10	9	0	2	0	0	0	2	0	5	2	4	1	3	3	0	2	3	3	1	6			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:49957504G>C	ENST00000376056.2	-	5	1983	c.1833C>G	c.(1831-1833)gaC>gaG	p.D611E	AKAP4_ENST00000376064.3_Missense_Mutation_p.D611E|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.D237E|AKAP4_ENST00000358526.2_Missense_Mutation_p.D620E			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	620					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					TTTTCTGGGAGTCCAGGTGTT	0.463													C	49957504	G	C	49957504	3	2	529	1	0	0	0	0	1	0	0	0	453	1020	36	4	712	4	AKAP4	23	49957504	Missense_Mutation	SNP	G	TCGA-HT-7601-01A-11D-2086-08		49957504	105313056	34	46902											
KLHL13	90293	broad.mit.edu	37	chrX	117032912	117032912	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctagaaggtgatggtgTggtttcttctggtggaaaaa	9	14	13	5	0	3	2	0	1	3	1	4	3	3	3	0	5	0	1	0	5	4	3			TCGA-HT-7601-01A-11D-2086-08	TCGA-HT-7601-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61c1c39b-845d-4939-8f36-e74df0b879f4	1f027233-400d-4586-91d7-02f137b0a7d9	g.chrX:117032912T>G	ENST00000371876.1	-	6	4195	c.1774A>C	c.(1774-1776)Aca>Cca	p.T592P	KLHL13_ENST00000540167.1_Missense_Mutation_p.T627P|KLHL13_ENST00000469946.1_Missense_Mutation_p.T592P|KLHL13_ENST00000539496.1_Missense_Mutation_p.T646P|KLHL13_ENST00000541812.1_Missense_Mutation_p.T627P|KLHL13_ENST00000262820.3_Missense_Mutation_p.T643P|KLHL13_ENST00000371878.1_Missense_Mutation_p.T592P|KLHL13_ENST00000371882.1_Missense_Mutation_p.T592P|KLHL13_ENST00000545703.1_Missense_Mutation_p.T601P			Q9P2N7	KLH13_HUMAN	kelch-like family member 13	643					cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						GGTGATGGTGTGGTTTCTTCT	0.418													G	117032912	T	G	117032912	3	3	529	1	0	0	0	0	1	0	0	0	8427	1696	59	5	44	5	KLHL13	23	117032912	Missense_Mutation	SNP	T	TCGA-HT-7601-01A-11D-2086-08	67075408	117032912	38237648	35	46903											
PTPRF	5792	broad.mit.edu	37	chr1	44069662	44069662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggcggagaggaacgggCgcatcatcagctacaccgtg	9	6	15	11	4	2	1	2	0	0	1	2	3	2	2	1	4	4	3	1	4	2	1			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:44069662C>T	ENST00000359947.4	+	16	3179	c.2839C>T	c.(2839-2841)Cgc>Tgc	p.R947C	PTPRF_ENST00000496447.1_3'UTR|PTPRF_ENST00000372414.3_Missense_Mutation_p.R947C|PTPRF_ENST00000438120.1_Missense_Mutation_p.R938C|PTPRF_ENST00000422171.2_Missense_Mutation_p.R295C|PTPRF_ENST00000372413.3_Missense_Mutation_p.R938C	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	947	Fibronectin type-III 7.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GAGGAACGGGCGCATCATCAG	0.602													T	44069662	C	T	44069662	3	4	530	1	0	0	0	0	1	0	0	0	12889	768	27	1	2893	1	PTPRF	1	44069662	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		44069662	205180959	1	46904											
ZBTB7B	51043	broad.mit.edu	37	chr1	154988753	154988753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagagcgcccctactcatgCccgcactgcccagcccgctt	6	6	10	19	3	1	1	1	0	0	1	1	2	1	1	5	1	5	2	5	1	1	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:154988753C>T	ENST00000368426.3	+	4	1349	c.1212C>T	c.(1210-1212)tgC>tgT	p.C404C	ZBTB7B_ENST00000417934.2_Silent_p.C438C|ZBTB7B_ENST00000535420.1_Silent_p.C404C|ZBTB7B_ENST00000292176.2_Silent_p.C404C	NM_001256455.1	NP_001243384.1	O15156	ZBT7B_HUMAN	zinc finger and BTB domain containing 7B	404					cell differentiation|ectoderm development|multicellular organismal development|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)	29	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			CCTACTCATGCCCGCACTGCC	0.632													T	154988753	C	T	154988753	2	4	530	1	0	0	0	0	0	0	0	1	17655	747	26	2		2	ZBTB7B	1	154988753	Silent	SNP	C	TCGA-HT-7602-01A-21D-2086-08	110919091	154988753	94261868	2	46905											
CEP350	9857	broad.mit.edu	37	chr1	179991958	179991959	+	Frame_Shift_Ins	INS	-	-	A																															agggactgggacttcgacagINSaaaaaaaatcaactcttgaa																										TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr1:179991958_179991959insA	ENST00000367607.3	+	13	3779_3780	c.3361_3362insA	c.(3361-3363)gaafs	p.E1121fs		NM_014810.4	NP_055625.4	Q5VT06	CE350_HUMAN	centrosomal protein 350kDa	1121	Ser-rich.					centrosome|nucleus|spindle				central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	66						GACTTCGACAGAAAAAAAATCA	0.391													A	179991959	-	A	179991958	7	5	530	1	0	1	1	0	0	0	0	0	3284	943	33	0	3407	0	CEP350	1	179991958	Frame_Shift_Ins	INS	-	TCGA-HT-7602-01A-21D-2086-08	25003205	179991958	69258663	3	46906											
FAM179A	165186	broad.mit.edu	37	chr2	29240088	29240088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatgaaggagatggagctGcttcggaggctggaggagcc	10	6	18	7	1	0	3	0	1	0	2	1	8	0	7	1	6	3	3	1	6	1	1			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr2:29240088G>A	ENST00000379558.4	+	9	1464	c.1113G>A	c.(1111-1113)ctG>ctA	p.L371L	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Silent_p.L371L	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	371							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						AGATGGAGCTGCTTCGGAGGC	0.572													A	29240088	G	A	29240088	2	1	530	1	0	0	0	0	0	0	0	1	5550	1306	46	2		2	FAM179A	2	29240088	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		29240088	213959285	4	46907											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	530	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08	179873024	209113112	34086261	5	46908											
ZDHHC19	131540	broad.mit.edu	37	chr3	195925263	195925263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattggagggtgcagattcGgcatggatgtccagtcaggc	9	9	15	8	1	1	1	1	0	0	1	3	3	2	3	1	5	1	2	1	5	0	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr3:195925263G>A	ENST00000296326.3	-	7	912	c.833C>T	c.(832-834)cCg>cTg	p.P278L		NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	278						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		GTGCAGATTCGGCATGGATGT	0.657													A	195925263	G	A	195925263	3	1	530	1	0	0	0	0	1	0	0	0	17710	1116	39	1	100	1	ZDHHC19	3	195925263	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		195925263	2097167	6	46909											
SH3RF1	57630	broad.mit.edu	37	chr4	170042112	170042112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctagttcatcctctttccGaggagtgtatggatatatag	9	15	9	8	1	3	0	1	0	2	0	5	3	5	2	2	2	0	2	2	2	5	7			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr4:170042112G>A	ENST00000284637.9	-	8	1716	c.1375C>T	c.(1375-1377)Cgg>Tgg	p.R459W	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	459	Interaction with AKT2 (By similarity).|SH3 3.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCTCTTTCCGAGGAGTGTAT	0.403													A	170042112	G	A	170042112	3	1	530	1	0	0	0	0	1	0	0	0	14352	1057	37	1	1311	1	SH3RF1	4	170042112	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		170042112	21112164	7	46910											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576465	33576465	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtagtgggcctttggctGgggagcagtccttccattac	7	11	14	9	0	0	0	0	0	0	0	2	2	2	1	3	4	2	3	3	4	3	4			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr5:33576465G>A	ENST00000504830.1	-	19	4001	c.3666C>T	c.(3664-3666)ccC>ccT	p.P1222P	ADAMTS12_ENST00000352040.3_Silent_p.P1137P	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1222	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GCCTTTGGCTGGGGAGCAGTC	0.557										HNSCC(64;0.19)			A	33576465	G	A	33576465	2	1	530	1	0	0	0	0	0	0	0	1	257	1335	47	2		2	ADAMTS12	5	33576465	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		33576465	147338795	8	46911											
NAT2	10	broad.mit.edu	37	chr8	18257912	18257912	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcctcccagatgtggcaGcctctagaattaatttctgg	9	12	9	11	0	2	2	0	0	2	2	4	2	4	2	3	2	2	2	3	2	3	3			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr8:18257912G>C	ENST00000286479.3	+	2	506	c.399G>C	c.(397-399)caG>caC	p.Q133H	NAT2_ENST00000520116.1_Missense_Mutation_p.Q3H	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	133					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		AGATGTGGCAGCCTCTAGAAT	0.502									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				C	18257912	G	C	18257912	3	2	530	1	0	0	0	0	1	0	0	0	10253	962	34	4	401	4	NAT2	8	18257912	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		18257912	128106110	9	46912											
PCSK5	5125	broad.mit.edu	37	chr9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatggaatggaatggaaTgaaatggaatggaatgaaat	19	8	13	1	0	0	3	0	2	0	1	0	8	0	8	0	5	0	0	0	5	8	0	rs62556589		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423													C	78790136	T	C	78790136	3	2	530	1	0	0	0	0	1	0	0	0	11679	1479	51	3		3	PCSK5	9	78790136	Missense_Mutation	SNP	T	TCGA-HT-7602-01A-21D-2086-08		78790136	62423295	10	46913											
TSPAN14	81619	broad.mit.edu	37	chr10	82264513	82264513	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttgtcttccttggagtcggGctgtgggcatggagcgaaaa	7	11	16	7	2	1	0	0	0	1	0	3	3	2	2	1	4	1	3	1	4	2	3			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr10:82264513G>A	ENST00000429989.3	+	3	334	c.111G>A	c.(109-111)ggG>ggA	p.G37G	TSPAN14_ENST00000372156.1_Silent_p.G37G|TSPAN14_ENST00000481124.1_Intron|TSPAN14_ENST00000341863.6_Silent_p.G37G|TSPAN14_ENST00000372164.3_Intron|TSPAN14_ENST00000372158.1_Silent_p.G37G	NM_030927.2	NP_112189.2	Q8NG11	TSN14_HUMAN	tetraspanin 14							integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	7			Colorectal(32;0.229)			TTGGAGTCGGGCTGTGGGCAT	0.517													A	82264513	G	A	82264513	2	1	530	1	0	0	0	0	0	0	0	1	16739	1190	42	2		2	TSPAN14	10	82264513	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		82264513	53270234	11	46914											
MPEG1	219972	broad.mit.edu	37	chr11	58978417	58978417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccccatggatgacattcatgGccctccgcagctctatcggt	7	10	9	15	2	2	1	1	1	1	0	4	2	3	2	4	3	1	2	4	3	1	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr11:58978417G>A	ENST00000361050.3	-	1	2007	c.1922C>T	c.(1921-1923)gCc>gTc	p.A641V		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	641						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GACATTCATGGCCCTCCGCAG	0.547													A	58978417	G	A	58978417	3	1	530	1	0	0	0	0	1	0	0	0	9799	1203	42	2	232	2	MPEG1	11	58978417	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		58978417	76028099	12	46915											
NCKAP1L	3071	broad.mit.edu	37	chr12	54911640	54911640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggattaggtctctggtccGaagacacatcaaagtgatac	12	9	12	8	1	2	2	1	1	1	1	4	4	3	3	1	4	1	0	1	4	4	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:54911640G>A	ENST00000293373.6	+	13	1335	c.1256G>A	c.(1255-1257)cGa>cAa	p.R419Q	NCKAP1L_ENST00000545638.2_Missense_Mutation_p.R369Q	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	419					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						TCTCTGGTCCGAAGACACATC	0.388													A	54911640	G	A	54911640	3	1	530	1	0	0	0	0	1	0	0	0	10298	1058	37	1	1306	1	NCKAP1L	12	54911640	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08		54911640	78940255	13	46916											
ACACB	32	broad.mit.edu	37	chr12	109654442	109654442	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gataccgcagcgggatccgcGgctatatgaaaacagtggtg	11	7	14	9	4	0	1	0	1	0	0	1	3	1	2	2	3	3	2	2	3	5	3			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr12:109654442G>A	ENST00000338432.7	+	23	3489	c.3370G>A	c.(3370-3372)Ggc>Agc	p.G1124S	ACACB_ENST00000377854.5_Intron|ACACB_ENST00000377848.3_Missense_Mutation_p.G1124S			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1124					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding	p.G1124S(1)		NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CGGGATCCGCGGCTATATGAA	0.458													A	109654442	G	A	109654442	3	1	530	1	0	0	0	0	1	0	0	0	107	1116	39	1	3456	1	ACACB	12	109654442	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	54742802	109654442	24197453	14	46917											
ZIC2	7546	broad.mit.edu	37	chr13	100637726	100637726	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggcggcagcggcggcggcGgctgcggcggcggcggccgc	1	1	24	15	11	0	0	0	0	0	0	0	0	0	0	1	10	2	2	1	10	0	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr13:100637726G>T	ENST00000376335.3	+	3	1682	c.1389G>T	c.(1387-1389)gcG>gcT	p.A463A	ZIC2_ENST00000477213.1_3'UTR	NM_007129.3	NP_009060.2	O95409	ZIC2_HUMAN	Zic family member 2	463	Poly-Ala.				brain development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|visual perception	cytoplasm|nucleus	chromatin DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			large_intestine(2)|liver(2)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					cggcggcggcggctgcggcgg	0.816													T	100637726	G	T	100637726	2	4	530	1	0	0	0	0	0	0	0	1	17780	1103	39	4		4	ZIC2	13	100637726	Silent	SNP	G	TCGA-HT-7602-01A-21D-2086-08		100637726	14532152	15	46918											
MNT	4335	broad.mit.edu	37	chr17	2298167	2298168	+	Splice_Site	INS	-	-	C																															accccgccacaccccactcaINSccccccgggcctcttcttct																										TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:2298167_2298168insC	ENST00000174618.4	-	2	1059		c.e2+1		MNT_ENST00000575394.1_Intron	NM_020310.2	NP_064706.1	Q99583	MNT_HUMAN	MAX network transcriptional repressor						multicellular organismal development|negative regulation of cell proliferation|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			endometrium(4)|large_intestine(5)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	12				Colorectal(2;1.37e-05)|READ - Rectum adenocarcinoma(2;8.68e-05)		CACCCCACTCACCCCCCGGGCC	0.663													C	2298168	-	C	2298167	8	5	530	1	0	1	1	0	0	0	1	0	9754	173	6	0	1113	0	MNT	17	2298167	Splice_Site	INS	-	TCGA-HT-7602-01A-21D-2086-08		2298167	78897043	16	46919											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000269305.4_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	530	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	5278927	7577094	73618116	17	46920			1	66		3	3	1399	N	G_C	4.49083e-07
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			A	7578212	G	A	7578212	4	1	530	1	0	0	0	0	0	1	0	0	16482	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-7602-01A-21D-2086-08	1118	7578212	73616998	18	46921			1	66		3	3	1399	N	G_C	4.49083e-07
TP53	7157	broad.mit.edu	37	chr17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgggggtgtggaatcaacCcacagctgcacagggcaggt	9	5	17	10	1	1	0	1	0	0	0	1	1	1	1	1	6	3	3	1	6	2	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr17:7578492C>T	ENST00000420246.2	-	5	570	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)		TGGAATCAACCCACAGCTGCA	0.602		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)			T	7578492	C	T	7578492	4	4	530	1	0	0	0	0	0	1	0	0	16482	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08	280	7578492	73616718	19	46922			1	66		3	3	1399	N	G_C	4.49083e-07
CIC	23152	broad.mit.edu	37	chr19	42793100	42793100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagacaccaaggctcCggggagcagctcctgtgggg	8	5	16	12	1	1	1	1	0	0	1	3	3	3	2	3	5	3	4	3	5	1	0			TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr19:42793100C>T	ENST00000572681.2	+	8	3787	c.3719C>T	c.(3718-3720)cCg>cTg	p.P1240L	CIC_ENST00000575354.2_Missense_Mutation_p.P331L|CIC_ENST00000160740.3_Missense_Mutation_p.P331L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	331	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCAAGGCTCCGGGGAGCAGC	0.617			"Mis, F, S"		oligodendroglioma								T	42793100	C	T	42793100	3	4	530	1	0	0	0	0	1	0	0	0	3454	652	23	1	1018	1	CIC	19	42793100	Missense_Mutation	SNP	C	TCGA-HT-7602-01A-21D-2086-08		42793100	16335883	20	46923											
PLA2G3	50487	broad.mit.edu	37	chr22	31533838	31533838	+	Frame_Shift_Del	DEL	A	A	-																															tgatgtggtggccccttccgAaggtgctgcttctgtcgagg																										TCGA-HT-7602-01A-21D-2086-08	TCGA-HT-7602-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	88395c0e-4afe-434d-8b20-5a3eef8b7f00	5844876a-d390-4c02-acb9-f32647ca7375	g.chr22:31533838delA	ENST00000215885.3	-	4	1176	c.924delT	c.(922-924)cttfs	p.L308fs		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	308					cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						GCCCCTTCCGAAGGTGCTGCT	0.647													-	31533838	A	-	31533838	7	5	530	1	0	1	0	1	0	0	0	0	12077	233	9	0	621	0	PLA2G3	22	31533838	Frame_Shift_Del	DEL	A	TCGA-HT-7602-01A-21D-2086-08		31533838	19770728	21	46924											
ESPN	83715	broad.mit.edu	37	chr1	6488429	6488429	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctatccactacgctgcCgccaaaggagacttcccctc	8	8	7	18	2	0	1	0	0	0	1	3	2	2	1	6	1	3	1	6	1	3	3	rs142425048	by1000genomes	TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:6488429C>T	ENST00000377828.1	+	2	606	c.438C>T	c.(436-438)gcC>gcT	p.A146A		NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	146					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		ACTACGCTGCCGCCAAAGGAG	0.647													T	6488429	C	T	6488429	2	4	531	1	0	0	0	0	0	0	0	1	5295	639	23	1		1	ESPN	1	6488429	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08		6488429	242762192	1	46925											
TMEM79	84283	broad.mit.edu	37	chr1	156255699	156255699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccgtttgatgtcccaCggctgcccaccatgagttcc	5	11	9	16	2	0	2	0	2	0	0	3	2	3	2	6	1	2	3	6	1	0	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr1:156255699C>T	ENST00000405535.2	+	2	853	c.682C>T	c.(682-684)Cgg>Tgg	p.R228W	TMEM79_ENST00000495881.1_3'UTR|TMEM79_ENST00000295694.5_Missense_Mutation_p.R228W|TMEM79_ENST00000357501.2_Intron	NM_032323.2	NP_115699.1	Q9BSE2	TMM79_HUMAN	transmembrane protein 79	228						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|urinary_tract(1)	21	Hepatocellular(266;0.158)					TGATGTCCCACGGCTGCCCAC	0.607													T	156255699	C	T	156255699	3	4	531	1	0	0	0	0	1	0	0	0	16303	527	19	1	684	1	TMEM79	1	156255699	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	149767270	156255699	92994922	2	46926											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	531	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		209113112	34086261	3	46927											
ZNF860	344787	broad.mit.edu	37	chr3	32031226	32031226	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcatcattactcacaCtaaaacaggaagtacacata	17	10	3	11	0	3	0	3	0	0	0	4	1	4	1	1	1	3	1	1	1	6	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:32031226C>G	ENST00000360311.4	+	2	1204	c.655C>G	c.(655-657)Cta>Gta	p.L219V		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						ATTACTCACACTAAAACAGGA	0.333													G	32031226	C	G	32031226	3	3	531	1	0	0	0	0	1	0	0	0	18293	564	20	4	657	4	ZNF860	3	32031226	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		32031226	165991204	4	46928											
CDV3	55573	broad.mit.edu	37	chr3	133292940	133292942	+	In_Frame_Del	DEL	AAG	AAG	-																															acttctttgccaagagggacAagaagaagaagaaggagcgg																										TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr3:133292940_133292942delAAG	ENST00000264993.3	+	1	367_369	c.52_54delAAG	c.(52-54)aagdel	p.K22del	CDV3_ENST00000431519.2_In_Frame_Del_p.K22del	NM_001134422.1|NM_001282763.1|NM_017548.4	NP_001127894.1|NP_001269692.1|NP_060018.1	Q9UKY7	CDV3_HUMAN	CDV3 homolog (mouse)	22	Poly-Lys.				cell proliferation	cytoplasm				kidney(3)|lung(1)|prostate(1)	5						CAAGAGGGACAAGAAGAAGAAGA	0.744													-	133292942	AAG	-	133292940	7	5	531	1	0	1	0	1	0	0	0	0	3211	131	5	0	54	0	CDV3	3	133292940	In_Frame_Del	DEL	AAG	TCGA-HT-7603-01A-21D-2086-08	101261714	133292940	64729490	5	46929											
CHRNA6	8973	broad.mit.edu	37	chr8	42620342	42620342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagttgcacagcccaCacagcctgtgaggccaaaca	11	6	8	16	0	1	1	1	1	0	0	2	1	2	1	4	1	4	2	4	1	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:42620342C>T	ENST00000276410.2	-	2	440	c.85G>A	c.(85-87)Gtg>Atg	p.V29M	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.V29M	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	29						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GCACAGCCCACACAGCCTGTG	0.562													T	42620342	C	T	42620342	3	4	531	1	0	0	0	0	1	0	0	0	3417	478	17	2	1419	2	CHRNA6	8	42620342	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		42620342	103743680	6	46930											
EEF1D	1936	broad.mit.edu	37	chr8	144668979	144668979	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcatatttgaacttgtcgaAccagatcttctcatgtgcta	10	15	7	9	1	3	2	2	1	2	1	5	3	3	2	1	0	3	1	1	0	4	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr8:144668979A>C	ENST00000532741.1	-	2	1513	c.1285T>G	c.(1285-1287)Ttc>Gtc	p.F429V	EEF1D_ENST00000419152.2_Missense_Mutation_p.F13V|EEF1D_ENST00000532400.1_Missense_Mutation_p.F13V|EEF1D_ENST00000423316.2_Missense_Mutation_p.F379V|EEF1D_ENST00000317198.6_Missense_Mutation_p.F13V|EEF1D_ENST00000395119.3_Missense_Mutation_p.F13V|EEF1D_ENST00000442189.2_Missense_Mutation_p.F379V|EEF1D_ENST00000531621.1_Missense_Mutation_p.F13V|EEF1D_ENST00000524624.1_Missense_Mutation_p.F13V|EEF1D_ENST00000528610.1_Missense_Mutation_p.F13V|EEF1D_ENST00000529272.1_Missense_Mutation_p.F13V|EEF1D_ENST00000526838.1_Missense_Mutation_p.F13V			P29692	EF1D_HUMAN	eukaryotic translation elongation factor 1 delta (guanine nucleotide exchange protein)	13					positive regulation of I-kappaB kinase/NF-kappaB cascade	cytosol|eukaryotic translation elongation factor 1 complex	protein binding|signal transducer activity|translation elongation factor activity			breast(2)|cervix(1)|endometrium(1)|kidney(4)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)			AACTTGTCGAACCAGATCTTC	0.552													C	144668979	A	C	144668979	3	2	531	1	0	0	0	0	1	0	0	0	4965	43	2	5	836	5	EEF1D	8	144668979	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08	102048637	144668979	1695043	7	46931											
FNBP1	23048	broad.mit.edu	37	chr9	132757223	132757223	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgtgtgtttttctaaGttgtcaaactgatcctgttg	7	18	9	7	0	2	1	1	1	1	0	3	1	3	1	1	0	1	3	1	0	2	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr9:132757223G>C	ENST00000420781.1	-	2	257	c.39C>G	c.(37-39)aaC>aaG	p.N13K	FNBP1_ENST00000355681.3_Missense_Mutation_p.N13K|FNBP1_ENST00000446176.2_Missense_Mutation_p.N13K			Q96RU3	FNBP1_HUMAN	formin binding protein 1	13	FCH.|Interaction with microtubules (By similarity).|Required for self-association and induction of membrane tubulation.|Self-association, lipid-binding and induction of membrane tubulation.				endocytosis	cell cortex|cytoplasmic membrane-bounded vesicle|cytoskeleton|lysosome|plasma membrane	identical protein binding|lipid binding						Ovarian(14;0.000536)		GBM - Glioblastoma multiforme(294;0.0378)		GTTTTTCTAAGTTGTCAAACT	0.333			T	MLL	AML								C	132757223	G	C	132757223	3	2	531	1	0	0	0	0	1	0	0	0	6014	1020	36	4	1878	4	FNBP1	9	132757223	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		132757223	8456208	8	46932											
RBP3	5949	broad.mit.edu	37	chr10	48390723	48390723	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcttgatggcctgctggAtggcttcctgcatgcccagc	4	11	13	13	0	1	1	0	1	1	0	2	2	2	2	3	4	4	4	3	4	0	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:48390723A>G	ENST00000224600.4	-	1	268	c.155T>C	c.(154-156)aTc>aCc	p.I52T		NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	52	4 X approximate tandem repeats.				lipid metabolic process|proteolysis|transport|visual perception	interphotoreceptor matrix	retinal binding|serine-type peptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	GGCCTGCTGGATGGCTTCCTG	0.597													G	48390723	A	G	48390723	3	3	531	1	0	0	0	0	1	0	0	0	13245	333	12	3	3604	3	RBP3	10	48390723	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		48390723	87144024	9	46933											
SLC29A3	55315	broad.mit.edu	37	chr10	73122070	73122070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagggcccaatagcaaggCgctcccagggttcgtgctcc	7	6	13	15	2	0	0	0	0	0	0	3	0	2	0	4	3	2	4	4	3	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:73122070C>T	ENST00000373189.5	+	6	1185	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	SLC29A3_ENST00000469204.1_3'UTR	NM_001174098.1|NM_018344.5	NP_001167569.1|NP_060814.4	Q9BZD2	S29A3_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 3	378					nucleobase, nucleoside and nucleotide metabolic process	integral to membrane|late endosome membrane|lysosomal membrane	nucleoside transmembrane transporter activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	15						AATAGCAAGGCGCTCCCAGGG	0.602													T	73122070	C	T	73122070	3	4	531	1	0	0	0	0	1	0	0	0	14630	768	27	1	1159	1	SLC29A3	10	73122070	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24731347	73122070	62412677	10	46934											
SFTPD	6441	broad.mit.edu	37	chr10	81706233	81706233	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacctgggtcccccttctcGccccgagggccctctctccc	2	9	8	22	2	2	0	0	0	2	0	6	1	4	0	7	2	1	0	7	2	1	2	rs148973610		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr10:81706233G>A	ENST00000372292.3	-	2	223	c.183C>T	c.(181-183)ggC>ggT	p.G61G		NM_003019.4	NP_003010.4	P35247	SFTPD_HUMAN	surfactant protein D	61	Collagen-like.				cell junction assembly|innate immune response|lung alveolus development|macrophage chemotaxis|negative regulation of interleukin-2 biosynthetic process|negative regulation of T cell proliferation|positive regulation of phagocytosis|reactive oxygen species metabolic process|receptor-mediated endocytosis|respiratory gaseous exchange|surfactant homeostasis	collagen|endocytic vesicle|extracellular space|lysosome	bacterial cell surface binding|protein binding|sugar binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(3)|skin(4)|urinary_tract(1)	17	Breast(12;0.000615)|Prostate(51;0.0095)|all_epithelial(25;0.027)		Epithelial(14;0.0244)|all cancers(16;0.0558)|Colorectal(32;0.109)			CCCCCTTCTCGCCCCGAGGGC	0.602													A	81706233	G	A	81706233	2	1	531	1	0	0	0	0	0	0	0	1	14286	1074	38	1		1	SFTPD	10	81706233	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	8584163	81706233	53828514	11	46935											
OR5P3	120066	broad.mit.edu	37	chr11	7847281	7847281	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggaagctcatgagcatgAcaggtgtgactgatgaggag	12	9	15	5	0	1	5	1	5	0	0	1	7	1	7	0	3	2	2	0	3	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847281A>G	ENST00000328375.1	-	1	238	c.239T>C	c.(238-240)gTc>gCc	p.V80A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CATGAGCATGACAGGTGTGAC	0.478													G	7847281	A	G	7847281	3	3	531	1	0	0	0	0	1	0	0	0	11255	275	10	3	699	3	OR5P3	11	7847281	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7847281	127159235	12	46936			1	67		2	2	25	N	C_A	2.6359e-05
OR5P3	120066	broad.mit.edu	37	chr11	7847305	7847305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtgactgatgaggagtacCcaatgtctacaaaggccaaa	14	8	11	8	0	1	3	0	3	1	0	1	4	1	4	2	2	2	1	2	2	5	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:7847305C>G	ENST00000328375.1	-	1	214	c.215G>C	c.(214-216)gGg>gCg	p.G72A	RP11-35J10.5_ENST00000527565.1_lincRNA	NM_153445.1	NP_703146.1	Q8WZ94	OR5P3_HUMAN	olfactory receptor, family 5, subfamily P, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	15				Epithelial(150;8.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TGAGGAGTACCCAATGTCTAC	0.438													G	7847305	C	G	7847305	3	3	531	1	0	0	0	0	1	0	0	0	11255	623	22	4	723	4	OR5P3	11	7847305	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	24	7847305	127159211	13	46937			1	67		2	2	25	N	C_A	2.6359e-05
DAGLA	747	broad.mit.edu	37	chr11	61504739	61504739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcctctccttccttctgcGcccacagtatccgaccctca	6	11	4	20	2	3	0	1	0	2	0	7	1	6	0	6	0	1	1	6	0	1	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:61504739G>A	ENST00000257215.5	+	14	1573	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	486					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R486H(1)		breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		TTCCTTCTGCGCCCACAGTAT	0.647													A	61504739	G	A	61504739	3	1	531	1	0	0	0	0	1	0	0	0	4260	1087	38	1	1507	1	DAGLA	11	61504739	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	53657434	61504739	73501777	14	46938											
C11orf82	220042	broad.mit.edu	37	chr11	82644345	82644345	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaagaaatgccttggggAcatatcaataacaacgtaac	17	9	8	7	1	1	2	1	1	0	1	1	3	1	3	1	2	4	1	1	2	7	5			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr11:82644345A>G	ENST00000533655.1	+	6	2177	c.1965A>G	c.(1963-1965)ggA>ggG	p.G655G	C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000329143.3_Silent_p.G354G|C11orf82_ENST00000528759.1_3'UTR|C11orf82_ENST00000430323.2_Silent_p.G655G	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	655					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						TGCCTTGGGGACATATCAATA	0.343													G	82644345	A	G	82644345	2	3	531	1	0	0	0	0	0	0	0	1	1677	262	10	3		3	C11orf82	11	82644345	Silent	SNP	A	TCGA-HT-7603-01A-21D-2086-08	21139606	82644345	52362171	15	46939											
CLSTN3	9746	broad.mit.edu	37	chr12	7302188	7302188	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaatttctctggtgggggAtgacctggatcccgagcggg	7	10	16	8	2	1	2	0	2	1	0	3	5	2	4	2	5	1	0	2	5	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:7302188A>G	ENST00000537408.1	+	13	2718	c.2180A>G	c.(2179-2181)gAt>gGt	p.D727G	CLSTN3_ENST00000266546.6_Missense_Mutation_p.D715G			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	715					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.D715V(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CTGGTGGGGGATGACCTGGAT	0.567													G	7302188	A	G	7302188	3	3	531	1	0	0	0	0	1	0	0	0	3594	333	12	3	2198	3	CLSTN3	12	7302188	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		7302188	126549707	16	46940											
TAOK3	51347	broad.mit.edu	37	chr12	118693346	118693346	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaatagatcggcaatctcTgggtccttcagcaccccttt	9	12	8	12	1	2	2	1	0	1	2	5	2	3	2	3	2	1	2	3	2	4	4			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:118693346T>C	ENST00000392533.3	-	3	517	c.27A>G	c.(25-27)ccA>ccG	p.P9P	TAOK3_ENST00000419821.2_Silent_p.P9P	NM_016281.3	NP_057365.3	Q9H2K8	TAOK3_HUMAN	TAO kinase 3	9					MAPKKK cascade|negative regulation of JNK cascade|positive regulation of JNK cascade|protein autophosphorylation	mitochondrion|plasma membrane	ATP binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)|skin(1)	7	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CGGCAATCTCTGGGTCCTTCA	0.398													C	118693346	T	C	118693346	2	2	531	1	0	0	0	0	0	0	0	1	15646	1567	55	3		3	TAOK3	12	118693346	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08	111391158	118693346	15158549	17	46941											
RIMBP2	23504	broad.mit.edu	37	chr12	130898840	130898840	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggagaaaggcggtctcGcccgtaatcgtctgcgagca	8	8	14	11	5	3	1	0	0	3	1	5	3	3	1	1	3	2	2	1	3	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr12:130898840G>A	ENST00000261655.4	-	14	2645	c.2482C>T	c.(2482-2484)Cga>Tga	p.R828*		NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	828						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		AGGCGGTCTCGCCCGTAATCG	0.567													A	130898840	G	A	130898840	4	1	531	1	0	0	0	0	0	1	0	0	13452	1095	38	1	700	1	RIMBP2	12	130898840	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08	12205494	130898840	2953055	18	46942											
RCBTB2	1102	broad.mit.edu	37	chr13	49070412	49070412	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatagtttgttggcagagcTttttcaaacgattttctcta	9	18	8	6	1	2	2	1	1	1	1	3	3	2	2	0	1	2	4	0	1	3	8			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:49070412T>C	ENST00000344532.3	-	14	1853	c.1430A>G	c.(1429-1431)aAg>aGg	p.K477R	RCBTB2_ENST00000430805.2_Missense_Mutation_p.K482R|RCBTB2_ENST00000544492.1_Missense_Mutation_p.K203R	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	477							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		TTGGCAGAGCTTTTTCAAACG	0.463													C	49070412	T	C	49070412	3	2	531	1	0	0	0	0	1	0	0	0	13260	1609	56	3	233	3	RCBTB2	13	49070412	Missense_Mutation	SNP	T	TCGA-HT-7603-01A-21D-2086-08		49070412	66099466	19	46943											
FAM124A	220108	broad.mit.edu	37	chr13	51825995	51825995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgctttgggccatccggccCgtgcactacggcaaggaaat	8	7	12	14	4	0	0	0	0	0	0	1	1	1	1	4	4	2	3	4	4	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr13:51825995C>T	ENST00000322475.8	+	3	627	c.492C>T	c.(490-492)ccC>ccT	p.P164P	FAM124A_ENST00000280057.6_Silent_p.P200P	NM_001242312.1	NP_001229241.1	Q86V42	F124A_HUMAN	family with sequence similarity 124A	164										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|skin(1)	26		Acute lymphoblastic leukemia(7;0.000334)|Breast(56;0.00156)|Prostate(109;0.00538)|Lung NSC(96;0.0216)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;4.25e-07)		CCATCCGGCCCGTGCACTACG	0.632													T	51825995	C	T	51825995	2	4	531	1	0	0	0	0	0	0	0	1	5470	639	23	1		1	FAM124A	13	51825995	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	2755583	51825995	63343883	20	46944											
TNRC6A	27327	broad.mit.edu	37	chr16	24788378	24788378	+	Missense_Mutation	SNP	G	G	T																															gccaacaatcagcagccacaGcagcagcagcaacagcagca																										TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788378G>T	ENST00000395799.3	+	5	417	c.288G>T	c.(286-288)caG>caT	p.Q96H	TNRC6A_ENST00000315183.7_Missense_Mutation_p.Q96H	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	96	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		agcagccacagcagcagcagc	0.597													T	24788378	G	T	24788378	3	4	531	1	0	0	0	0	1	0	0	0	16440	962	34	4	306	4	TNRC6A	16	24788378	Missense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		24788378	65566375	21	46945	155	2									
TNRC6A	27327	broad.mit.edu	37	chr16	24788379	24788379	+	Nonsense_Mutation	SNP	C	C	T																															ccaacaatcagcagccacagCagcagcagcaacagcagcag																										TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:24788379C>T	ENST00000395799.3	+	5	418	c.289C>T	c.(289-291)Cag>Tag	p.Q97*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.Q97*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	97	Gln-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		gcagccacagcagcagcagca	0.602													T	24788379	C	T	24788379	4	4	531	1	0	0	0	0	0	1	0	0	16440	711	25	2	307	2	TNRC6A	16	24788379	Nonsense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1	24788379	65566374	22	46946	155	2									
SALL1	6299	broad.mit.edu	37	chr16	51171049	51171049	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgacgatctccttgctgtCctccacgaagcgggtgaagc	7	9	12	13	4	1	2	0	2	1	0	4	4	3	2	3	1	3	1	3	1	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:51171049C>A	ENST00000440970.1	-	3	4089	c.3658G>T	c.(3658-3660)Gac>Tac	p.D1220Y	SALL1_ENST00000566102.1_3'UTR|SALL1_ENST00000541611.1_Missense_Mutation_p.D140Y|SALL1_ENST00000251020.4_Missense_Mutation_p.D1317Y	NM_001127892.1	NP_001121364.1	Q9NSC2	SALL1_HUMAN	spalt-like transcription factor 1	1317					adrenal gland development|branching involved in ureteric bud morphogenesis|embryonic digestive tract development|embryonic digit morphogenesis|gonad development|histone deacetylation|inductive cell-cell signaling|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of transcription from RNA polymerase II promoter|olfactory bulb interneuron differentiation|olfactory bulb mitral cell layer development|olfactory nerve development|outer ear morphogenesis|pituitary gland development|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|ureteric bud invasion|ventricular septum development	chromocenter|cytoplasm|heterochromatin|nucleus	beta-catenin binding|DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(25)|lung(61)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	126		all_cancers(37;0.0322)	COAD - Colon adenocarcinoma(2;0.24)			TCCTTGCTGTCCTCCACGAAG	0.567													A	51171049	C	A	51171049	3	1	531	1	0	0	0	0	1	0	0	0	13901	855	30	4	29	4	SALL1	16	51171049	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	26382670	51171049	39183704	23	46947											
ACD	65057	broad.mit.edu	37	chr16	67694142	67694142	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccccacggctacacccagCggatgcaacgggcccgggtt	8	5	12	16	4	0	0	0	0	0	0	1	1	1	1	4	4	4	3	4	4	2	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:67694142C>T	ENST00000219251.8	-	1	571	c.240G>A	c.(238-240)ccG>ccA	p.P80P	ACD_ENST00000393919.4_Silent_p.P80P	NM_001082486.1|NM_001082487.1|NM_022914.2	NP_001075955.1|NP_001075956.1|NP_075065.2	Q96AP0	ACD_HUMAN	adrenocortical dysplasia homolog (mouse)	80					intracellular protein transport|negative regulation of telomere maintenance via telomerase|positive regulation of single-stranded telomeric DNA binding|positive regulation of telomerase activity|protection from non-homologous end joining at telomere|protein localization to chromosome, telomeric region|telomere assembly	nuclear telomere cap complex|nucleoplasm	DNA binding|DNA polymerase binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.047)|all cancers(182;0.228)		CTACACCCAGCGGATGCAACG	0.706													T	67694142	C	T	67694142	2	4	531	1	0	0	0	0	0	0	0	1	135	755	27	1		1	ACD	16	67694142	Silent	SNP	C	TCGA-HT-7603-01A-21D-2086-08	16523093	67694142	22660611	24	46948											
CIRH1A	84916	broad.mit.edu	37	chr16	69199373	69199373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcagttttcatcccaagagaCcgatgcacatccttctccat	10	12	5	14	1	3	1	2	0	1	1	6	3	5	1	4	0	1	2	4	0	1	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr16:69199373C>G	ENST00000563094.1	+	15	1811	c.1777C>G	c.(1777-1779)Ccg>Gcg	p.P593A	CIRH1A_ENST00000314423.7_Missense_Mutation_p.P593A|CIRH1A_ENST00000352319.4_Missense_Mutation_p.P478A			Q969X6	CIR1A_HUMAN	cirrhosis, autosomal recessive 1A (cirhin)	593						nucleolus	protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	16				OV - Ovarian serous cystadenocarcinoma(108;0.125)		TCCCAAGAGACCGATGCACAT	0.463													G	69199373	C	G	69199373	3	3	531	1	0	0	0	0	1	0	0	0	3464	507	18	4	1831	4	CIRH1A	16	69199373	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1505231	69199373	21155380	25	46949											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	531	1	0	0	0	0	1	0	0	0	16482	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		7577548	73617662	26	46950											
DSG2	1829	broad.mit.edu	37	chr18	29126613	29126613	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctctgccagatttTggtttagaggaatctggtca	7	13	11	10	0	3	2	1	0	2	2	3	3	3	3	3	4	1	1	3	4	2	4			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr18:29126613T>C	ENST00000261590.8	+	15	3473	c.3264T>C	c.(3262-3264)ttT>ttC	p.F1088F	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	1088					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			TGCCAGATTTTGGTTTAGAGG	0.473													C	29126613	T	C	29126613	2	2	531	1	0	0	0	0	0	0	0	1	4816	1809	63	3		3	DSG2	18	29126613	Silent	SNP	T	TCGA-HT-7603-01A-21D-2086-08		29126613	48950635	27	46951											
GADD45GIP1	90480	broad.mit.edu	37	chr19	13065170	13065170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggagcagctcctggaagCgggcactccttgggtccacc	6	7	13	15	1	0	0	0	0	0	0	3	2	3	2	5	4	3	3	5	4	1	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:13065170C>T	ENST00000316939.1	-	2	544	c.521G>A	c.(520-522)cGc>cAc	p.R174H		NM_052850.3	NP_443082.2	Q8TAE8	G45IP_HUMAN	growth arrest and DNA-damage-inducible, gamma interacting protein 1	174					cell cycle|interspecies interaction between organisms	nucleus	protein binding			ovary(2)|prostate(1)|skin(1)	4						CTCCTGGAAGCGGGCACTCCT	0.622													T	13065170	C	T	13065170	3	4	531	1	0	0	0	0	1	0	0	0	6236	768	27	1	151	1	GADD45GIP1	19	13065170	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		13065170	46063813	28	46952											
EMR2	30817	broad.mit.edu	37	chr19	14876167	14876167	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccaagcctggcttgtagtCtctgcccaggtcctggactt	5	11	12	13	0	1	0	0	0	1	0	3	1	2	1	4	4	2	2	4	4	2	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:14876167C>G	ENST00000315576.3	-	10	1322	c.871G>C	c.(871-873)Gac>Cac	p.D291H	EMR2_ENST00000392964.3_Missense_Mutation_p.D30H|EMR2_ENST00000353876.1_Missense_Mutation_p.D198H|EMR2_ENST00000353005.1_Missense_Mutation_p.D149H|EMR2_ENST00000595839.1_Missense_Mutation_p.D149H|EMR2_ENST00000346057.1_Missense_Mutation_p.D242H|EMR2_ENST00000594076.1_Missense_Mutation_p.D198H|EMR2_ENST00000392967.2_Missense_Mutation_p.D291H|EMR2_ENST00000596991.2_Missense_Mutation_p.D291H|EMR2_ENST00000601345.1_Missense_Mutation_p.D291H|EMR2_ENST00000594294.1_Missense_Mutation_p.D242H|EMR2_ENST00000392965.3_Missense_Mutation_p.D291H	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	291					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GGCTTGTAGTCTCTGCCCAGG	0.602													G	14876167	C	G	14876167	3	3	531	1	0	0	0	0	1	0	0	0	5146	913	32	4	1648	4	EMR2	19	14876167	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	1810997	14876167	44252816	29	46953											
UBA2	10054	broad.mit.edu	37	chr19	34929585	34929585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgagtgtcatcctaagccGacccagagaacctttcctgg	10	10	9	12	1	1	2	1	1	0	1	3	4	3	2	5	1	2	0	5	1	3	3			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr19:34929585G>A	ENST00000439527.2	+	6	705	c.207G>A	c.(205-207)ccG>ccA	p.P69P	UBA2_ENST00000246548.4_Silent_p.P165P			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	165					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			ATCCTAAGCCGACCCAGAGAA	0.403													A	34929585	G	A	34929585	2	1	531	1	0	0	0	0	0	0	0	1	16930	1045	37	1		1	UBA2	19	34929585	Silent	SNP	G	TCGA-HT-7603-01A-21D-2086-08	20053418	34929585	24199398	30	46954											
KIF3B	9371	broad.mit.edu	37	chr20	30897692	30897692	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtggatgtggatgttaagCtggggcaggtgtctgtgaag	7	12	19	3	0	1	1	0	1	1	0	1	3	1	3	0	6	1	3	0	6	2	1			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr20:30897692C>A	ENST00000375712.3	+	2	279	c.112C>A	c.(112-114)Ctg>Atg	p.L38M		NM_004798.3	NP_004789.1	O15066	KIF3B_HUMAN	kinesin family member 3B	38	Kinesin-motor.				anterograde axon cargo transport|blood coagulation|determination of left/right symmetry|mitotic centrosome separation|plus-end-directed vesicle transport along microtubule|spindle assembly involved in mitosis	centrosome|cytosol|kinesin II complex|plus-end kinesin complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|Rho GTPase binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GGATGTTAAGCTGGGGCAGGT	0.522													A	30897692	C	A	30897692	3	1	531	1	0	0	0	0	1	0	0	0	8359	796	28	4	114	4	KIF3B	20	30897692	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08		30897692	32127828	31	46955											
BAGE2	85319	broad.mit.edu	37	chr21	11085940	11085942	+	RNA	DEL	CAC	CAC	-																															accaccaccaccaccaccatCaccaccaccaccaccatcaa																										TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chr21:11085940_11085942delCAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccaccaccatcaccaccaccacc	0.532													-	11085942	CAC	-	11085940	6	5	531	0	1	1	0	1	0	0	0	0	1297	841	29	0		0	BAGE2	21	11085940	RNA	DEL	CAC	TCGA-HT-7603-01A-21D-2086-08		11085940	37043955	32	46956											
ATRX	546	broad.mit.edu	37	chrX	76909629	76909629	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgaaccttaatacgtcGccttttctttttctgtttat	6	22	4	9	2	3	1	0	1	3	0	4	1	3	1	2	0	2	1	2	0	4	10			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:76909629G>A	ENST00000373344.5	-	14	4490	c.4276C>T	c.(4276-4278)Cga>Tga	p.R1426*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1388*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1426					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.R1426*(1)|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)	TTAATACGTCGCCTTTTCTTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909629	G	A	76909629	4	1	531	1	0	0	0	0	0	1	0	0	1213	1095	38	1	3290	1	ATRX	23	76909629	Nonsense_Mutation	SNP	G	TCGA-HT-7603-01A-21D-2086-08		76909629	78360931	33	46957											
RAP2C	57826	broad.mit.edu	37	chrX	131351245	131351245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaaactgcacagtaagggCagatttgccaacccctccac	13	6	8	14	0	0	1	0	0	0	1	1	2	1	1	4	1	4	3	4	1	3	2			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrX:131351245C>T	ENST00000342983.2	-	2	798	c.52G>A	c.(52-54)Gcc>Acc	p.A18T	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000460462.1_Intron|RAP2C_ENST00000370874.1_Missense_Mutation_p.A18T	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	18					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					ACAGTAAGGGCAGATTTGCCA	0.507													T	131351245	C	T	131351245	3	4	531	1	0	0	0	0	1	0	0	0	13130	710	25	2	507	2	RAP2C	23	131351245	Missense_Mutation	SNP	C	TCGA-HT-7603-01A-21D-2086-08	54441616	131351245	23919315	34	46958											
UTY	7404	broad.mit.edu	37	chrY	15410959	15410959	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataaatctatacacagggAcatttgcttcataaagatct	16	12	6	7	0	3	1	1	0	2	1	3	3	3	2	0	1	2	1	0	1	7	6			TCGA-HT-7603-01A-21D-2086-08	TCGA-HT-7603-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	75dc5918-1fa5-4dba-bb41-e8057e228931	09b29d7c-9b2a-4808-9b8d-1fd650cc4fad	g.chrY:15410959A>G	ENST00000331397.4	-	24	4462	c.3455T>C	c.(3454-3456)gTc>gCc	p.V1152A	UTY_ENST00000362096.4_Missense_Mutation_p.V1152A|UTY_ENST00000537580.1_Missense_Mutation_p.V1073A|UTY_ENST00000382896.4_Missense_Mutation_p.V1197A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	1152	JmjC.				chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						ATACACAGGGACATTTGCTTC	0.383													G	15410959	A	G	15410959	3	3	531	1	0	0	0	0	1	0	0	0	17209	275	10	3	612	3	UTY	24	15410959	Missense_Mutation	SNP	A	TCGA-HT-7603-01A-21D-2086-08		15410959	43962607	35	46959											
VPS13D	55187	broad.mit.edu	37	chr1	12439544	12439544	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtattccgttttccagatAcgagccactgatgctgagaa	10	12	10	9	2	0	3	0	2	0	2	2	5	2	3	3	0	3	3	3	0	3	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:12439544A>G	ENST00000358136.3	+	57	11214	c.11084A>G	c.(11083-11085)tAc>tGc	p.Y3695C	VPS13D_ENST00000356315.4_Missense_Mutation_p.Y3670C|VPS13D_ENST00000496628.1_3'UTR	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	3694					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		TTTTCCAGATACGAGCCACTG	0.498													G	12439544	A	G	12439544	3	3	532	1	0	0	0	0	1	0	0	0	17294	391	14	3	11306	3	VPS13D	1	12439544	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		12439544	236811077	1	46960											
ADAR	103	broad.mit.edu	37	chr1	154574313	154574313	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggtctgagtttggggAtccttggctatgactgtctg	5	14	14	8	0	2	2	0	2	2	0	3	3	3	3	2	4	0	2	2	4	1	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:154574313A>C	ENST00000368474.4	-	2	1004	c.805T>G	c.(805-807)Tcc>Gcc	p.S269A	ADAR_ENST00000292205.5_Missense_Mutation_p.S312A|ADAR_ENST00000368471.3_5'UTR	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	269					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GAGTTTGGGGATCCTTGGCTA	0.488													C	154574313	A	C	154574313	3	2	532	1	0	0	0	0	1	0	0	0	281	333	12	5	2931	5	ADAR	1	154574313	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	142134769	154574313	94676308	2	46961											
FASLG	356	broad.mit.edu	37	chr1	172634805	172634805	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggaatgggaagacacCtatggaattgtcctgctttc	9	12	10	10	0	1	1	0	0	1	1	3	4	2	4	3	3	1	1	3	3	4	3	rs80358236		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr1:172634805C>A	ENST00000367721.2	+	4	679	c.495C>A	c.(493-495)acC>acA	p.T165T	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	165					activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GGGAAGACACCTATGGAATTG	0.428													A	172634805	C	A	172634805	2	1	532	1	0	0	0	0	0	0	0	1	5731	668	24	4		4	FASLG	1	172634805	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	18060492	172634805	76615816	3	46962											
APOB	338	broad.mit.edu	37	chr2	21230555	21230555	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatcttccctgttaaccttAatggaaaacgaactttcaaa	14	13	4	10	1	2	0	1	0	1	0	3	2	3	1	2	1	3	1	2	1	7	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:21230555A>C	ENST00000233242.1	-	26	9312	c.9185T>G	c.(9184-9186)tTa>tGa	p.L3062*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3062					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGTTAACCTTAATGGAAAACG	0.408													C	21230555	A	C	21230555	4	2	532	1	0	0	0	0	0	1	0	0	788	372	13	5	4522	5	APOB	2	21230555	Nonsense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08		21230555	221968818	4	46963											
TEKT4	150483	broad.mit.edu	37	chr2	95542422	95542422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggagaaggacattgccGccatgaccaacagtctcttc	10	8	10	13	1	1	2	0	1	1	1	3	4	1	3	4	2	2	0	4	2	2	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:95542422G>A	ENST00000295201.4	+	6	1353	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	AC097374.2_ENST00000568768.1_RNA	NM_144705.2	NP_653306.1	Q8WW24	TEKT4_HUMAN	tektin 4	406					cell projection organization|microtubule cytoskeleton organization	cilium axoneme|flagellar axoneme|microtubule		p.A406P(1)		NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	28						GGACATTGCCGCCATGACCAA	0.592													A	95542422	G	A	95542422	3	1	532	1	0	0	0	0	1	0	0	0	15855	1087	38	1	1238	1	TEKT4	2	95542422	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	74311867	95542422	147656951	5	46964											
ZEB2	9839	broad.mit.edu	37	chr2	145147369	145147369	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcggtgggttccaagtgcccTttctcgcgcgcctcgcgctc	2	11	12	16	6	1	0	0	0	1	0	6	0	2	0	3	2	1	2	3	2	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:145147369T>C	ENST00000558170.2	-	10	4478	c.3294A>G	c.(3292-3294)aaA>aaG	p.K1098K	ZEB2_ENST00000303660.4_Silent_p.K1098K|ZEB2_ENST00000539609.3_Silent_p.K1074K|ZEB2_ENST00000409487.3_Silent_p.K1098K	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	1098	Glu-rich (acidic).					cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		CCAAGTGCCCTTTCTCGCGCG	0.617													C	145147369	T	C	145147369	2	2	532	1	0	0	0	0	0	0	0	1	17725	1606	56	3		3	ZEB2	2	145147369	Silent	SNP	T	TCGA-HT-7604-01A-11D-2086-08	49604947	145147369	98052004	6	46965											
LRP2	4036	broad.mit.edu	37	chr2	170030513	170030513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcgggatgcagcggccatTagcacaccgaaactggcccg	9	5	13	14	4	0	0	0	0	0	0	0	2	0	1	3	3	5	2	3	3	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170030513T>C	ENST00000263816.3	-	56	11215	c.10930A>G	c.(10930-10932)Aat>Gat	p.N3644D		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3644	LDL-receptor class A 29.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CAGCGGCCATTAGCACACCGA	0.542													C	170030513	T	C	170030513	3	2	532	1	0	0	0	0	1	0	0	0	9026	1754	61	3	3133	3	LRP2	2	170030513	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24883144	170030513	73168860	7	46966											
PPIG	9360	broad.mit.edu	37	chr2	170488410	170488410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaagctgatgagaaggaaaGgaaaaacagagagagagaaa	23	3	13	2	0	0	5	0	2	0	4	0	10	0	7	0	2	2	1	0	2	7	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:170488410G>A	ENST00000260970.3	+	11	1116	c.896G>A	c.(895-897)aGg>aAg	p.R299K	PPIG_ENST00000409714.3_Missense_Mutation_p.R284K|PPIG_ENST00000482772.1_3'UTR|PPIG_ENST00000448752.2_Missense_Mutation_p.R299K|PPIG_ENST00000462903.1_Missense_Mutation_p.R299K	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	299					protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	gagaaggaaaggaaaaacaga	0.373													A	170488410	G	A	170488410	3	1	532	1	0	0	0	0	1	0	0	0	12406	1000	35	2	930	2	PPIG	2	170488410	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	457897	170488410	72710963	8	46967											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	532	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	38624703	209113113	34086260	9	46968											
ZFAND2B	130617	broad.mit.edu	37	chr2	220072487	220072487	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtcgctctgatccagcaCagcaaaaacgtaaggtaaac	15	7	8	11	2	1	1	0	1	1	0	3	1	2	1	1	1	4	5	1	1	5	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr2:220072487C>G	ENST00000409594.1	+	3	463	c.268C>G	c.(268-270)Cag>Gag	p.Q90E	ZFAND2B_ENST00000409336.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409412.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000444522.2_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409217.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000468301.1_3'UTR|ZFAND2B_ENST00000409319.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409206.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000409097.1_Missense_Mutation_p.Q90E|ZFAND2B_ENST00000289528.5_Missense_Mutation_p.Q90E			Q8WV99	ZFN2B_HUMAN	zinc finger, AN1-type domain 2B	90						endoplasmic reticulum	protein binding|zinc ion binding			endometrium(2)|kidney(4)|lung(4)|upper_aerodigestive_tract(1)	11		Renal(207;0.0915)		Epithelial(149;1.16e-06)|all cancers(144;0.000191)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCCAGCACAGCAAAAACG	0.557													G	220072487	C	G	220072487	3	3	532	1	0	0	0	0	1	0	0	0	17729	479	17	4	278	4	ZFAND2B	2	220072487	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	10959374	220072487	23126886	10	46969											
OR5H1	26341	broad.mit.edu	37	chr3	97852349	97852349	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catctccgcaagcagatgatCaagatatggtggagcctcta	12	9	10	10	1	3	3	1	1	2	2	4	4	3	4	2	2	2	2	2	2	4	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:97852349C>G	ENST00000354565.2	+	1	808	c.808C>G	c.(808-810)Caa>Gaa	p.Q270E	RP11-343D2.11_ENST00000508964.1_RNA	NM_001005338.1	NP_001005338.1	A6NKK0	OR5H1_HUMAN	olfactory receptor, family 5, subfamily H, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|kidney(8)|large_intestine(3)|lung(13)|ovary(1)|skin(1)	34						AGCAGATGATCAAGATATGGT	0.428													G	97852349	C	G	97852349	3	3	532	1	0	0	0	0	1	0	0	0	11235	827	29	4	810	4	OR5H1	3	97852349	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		97852349	100170081	11	46970											
ACAD9	28976	broad.mit.edu	37	chr3	128628194	128628194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcttggttaataggacagtgCcaacaagtttgaggagaaca	14	10	11	6	0	1	2	0	1	1	1	1	4	1	3	1	3	3	2	1	3	5	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:128628194C>G	ENST00000308982.7	+	15	1574	c.1493C>G	c.(1492-1494)gCc>gGc	p.A498G	ACAD9_ENST00000511526.1_3'UTR	NM_014049.4	NP_054768.2	Q9H845	ACAD9_HUMAN	acyl-CoA dehydrogenase family, member 9	498						mitochondrion	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(12)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	30						TAGGACAGTGCCAACAAGTTT	0.587													G	128628194	C	G	128628194	3	3	532	1	0	0	0	0	1	0	0	0	111	739	26	4	1551	4	ACAD9	3	128628194	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30775845	128628194	69394236	12	46971											
AADACL2	344752	broad.mit.edu	37	chr3	151461908	151461908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcttttgacttcctgaataGatggacggcaaacacgcttg	10	11	11	9	2	0	3	0	2	0	1	1	4	1	4	1	3	1	3	1	3	3	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr3:151461908G>C	ENST00000356517.3	+	3	498	c.389G>C	c.(388-390)aGa>aCa	p.R130T		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	130						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			TTCCTGAATAGATGGACGGCA	0.358													C	151461908	G	C	151461908	3	2	532	1	0	0	0	0	1	0	0	0	11	942	33	4	399	4	AADACL2	3	151461908	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	22833714	151461908	46560522	13	46972											
GPBP1	65056	broad.mit.edu	37	chr5	56546841	56546841	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagaaagggatataaacCgaaacttcgatgaaaatgaa	21	6	8	6	2	0	3	0	2	0	1	1	6	0	4	2	1	2	0	2	1	9	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:56546841C>T	ENST00000424459.3	+	11	2367	c.1093C>T	c.(1093-1095)Cga>Tga	p.R365*	GPBP1_ENST00000511209.1_Nonsense_Mutation_p.R337*|GPBP1_ENST00000454432.2_Nonsense_Mutation_p.R365*|GPBP1_ENST00000506184.2_Nonsense_Mutation_p.R345*|GPBP1_ENST00000514387.2_Nonsense_Mutation_p.R174*|GPBP1_ENST00000264779.6_Nonsense_Mutation_p.R352*|GPBP1_ENST00000538707.1_Nonsense_Mutation_p.R352*	NM_022913.3	NP_075064.1	Q86WP2	GPBP1_HUMAN	GC-rich promoter binding protein 1	345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	19		Lung NSC(810;0.000861)|Prostate(74;0.0305)|Breast(144;0.222)		OV - Ovarian serous cystadenocarcinoma(10;7.64e-39)		GGATATAAACCGAAACTTCGA	0.353													T	56546841	C	T	56546841	4	4	532	1	0	0	0	0	0	1	0	0	6649	644	23	1	1088	1	GPBP1	5	56546841	Nonsense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		56546841	124368419	14	46973											
PCDHGA12	26025	broad.mit.edu	37	chr5	140812212	140812212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgggcgaggtgcgcacggCgcgagccctgctggacagag	7	3	18	13	6	0	1	0	0	0	1	0	4	0	2	1	4	3	2	1	4	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr5:140812212C>T	ENST00000252085.3	+	1	2028	c.1886C>T	c.(1885-1887)gCg>gTg	p.A629V	PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCGCACGGCGCGAGCCCTG	0.687													T	140812212	C	T	140812212	3	4	532	1	0	0	0	0	1	0	0	0	11629	768	27	1	1888	1	PCDHGA12	5	140812212	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	84265371	140812212	40103048	15	46974											
SLC44A4	80736	broad.mit.edu	37	chr6	31832672	31832674	+	In_Frame_Del	DEL	AAG	AAG	-																															ggatgcgaccggagaaaaaaAagaaggacaggacccctgtg																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:31832672_31832674delAAG	ENST00000544672.1	-	19	1913_1915	c.1617_1619delCTT	c.(1615-1620)ttcttt>ttt	p.539_540FF>F	SLC44A4_ENST00000229729.6_In_Frame_Del_p.615_616FF>F|SLC44A4_ENST00000375562.4_In_Frame_Del_p.573_574FF>F	NM_001178045.1	NP_001171516.1	Q53GD3	CTL4_HUMAN	solute carrier family 44, member 4	615						integral to membrane|plasma membrane	choline transmembrane transporter activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(1)|urinary_tract(2)	35					Choline(DB00122)	GGAGAAAAAAAAGAAGGACAGGA	0.567													-	31832674	AAG	-	31832672	7	5	532	1	0	1	0	1	0	0	0	0	14732	14	1	0	297	0	SLC44A4	6	31832672	In_Frame_Del	DEL	AAG	TCGA-HT-7604-01A-11D-2086-08		31832672	139282395	16	46975											
PBX2	5089	broad.mit.edu	37	chr6	32157564	32157564	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttccctcggcctcccgggacCcccccgctacccccaccggg	3	5	9	24	4	0	0	0	0	0	0	3	1	2	1	9	3	1	1	9	3	1	2	rs151067717		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:32157564C>A	ENST00000375050.4	-	1	399	c.129G>T	c.(127-129)ggG>ggT	p.G43G		NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	43							transcription factor binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						CTCCCGGGACCCCCCCGCTAC	0.711													A	32157564	C	A	32157564	2	1	532	1	0	0	0	0	0	0	0	1	11569	610	22	4		4	PBX2	6	32157564	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	324892	32157564	138957503	17	46976											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34827130	34827130	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagcccccagctggcagggaGactgctgtgaatggacaggg	10	5	16	10	0	0	2	0	1	0	1	0	4	0	3	2	4	3	3	2	4	2	0	rs73419681	by1000genomes	TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:34827130G>A	ENST00000192788.5	+	14	3168	c.2997G>A	c.(2995-2997)gaG>gaA	p.E999E	UHRF1BP1_ENST00000452449.2_Silent_p.E999E	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	999										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						CTGGCAGGGAGACTGCTGTGA	0.552													A	34827130	G	A	34827130	2	1	532	1	0	0	0	0	0	0	0	1	17070	933	33	2		2	UHRF1BP1	6	34827130	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2669566	34827130	136287937	18	46977											
KIF6	221458	broad.mit.edu	37	chr6	39513460	39513460	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaaggatgttattagtttttCcagcctaaaaatacataatg	16	14	6	5	0	0	0	0	0	0	0	1	1	1	1	2	1	2	2	2	1	8	7			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:39513460C>G	ENST00000287152.7	-	11	1280	c.1186G>C	c.(1186-1188)Gaa>Caa	p.E396Q	KIF6_ENST00000373215.3_Missense_Mutation_p.E396Q|KIF6_ENST00000373213.4_Missense_Mutation_p.E235Q|KIF6_ENST00000538893.1_Missense_Mutation_p.E396Q|KIF6_ENST00000373216.3_Missense_Mutation_p.E396Q	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	396					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ATTAGTTTTTCCAGCCTAAAA	0.338													G	39513460	C	G	39513460	3	3	532	1	0	0	0	0	1	0	0	0	8366	864	30	4	1310	4	KIF6	6	39513460	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	4686330	39513460	131601607	19	46978											
CASP8AP2	9994	broad.mit.edu	37	chr6	90565237	90565237	+	RNA	DEL	A	A	-																															tacaaatgaaagagctgatgAaaaaatttaaagaaatacag																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:90565237delA	ENST00000551025.1	+	0	1711							Q9UKL3	C8AP2_HUMAN	caspase 8 associated protein 2						cell cycle|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	cytoplasm|nucleus	caspase activator activity|death receptor binding|transcription corepressor activity			NS(1)|endometrium(7)|kidney(6)|large_intestine(12)|lung(21)|ovary(2)|urinary_tract(2)	51		all_cancers(76;3.64e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.45e-10)|all_hematologic(105;7.74e-07)|all_epithelial(107;4.69e-05)|Lung NSC(302;0.238)		BRCA - Breast invasive adenocarcinoma(108;0.0953)		AGAGCTGATGAAAAAATTTAA	0.279													-	90565237	A	-	90565237	6	5	532	0	1	1	0	1	0	0	0	0	2704	247	9	0		0	CASP8AP2	6	90565237	RNA	DEL	A	TCGA-HT-7604-01A-11D-2086-08	51051777	90565237	80549830	20	46979											
C6orf118	168090	broad.mit.edu	37	chr6	165715396	165715396	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcctctgaagtgtgggAaagagaggcctgggggttca	9	9	15	8	0	2	2	1	1	1	1	4	4	4	3	3	4	0	1	3	4	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr6:165715396A>G	ENST00000543069.1	-	2	684	c.103T>C	c.(103-105)Tcc>Ccc	p.S35P	C6orf118_ENST00000230301.8_Missense_Mutation_p.S139P			Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	139										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		GAAGTGTGGGAAAGAGAGGCC	0.627													G	165715396	A	G	165715396	3	3	532	1	0	0	0	0	1	0	0	0	2345	246	9	3	1026	3	C6orf118	6	165715396	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	75150159	165715396	5399671	21	46980											
SDK1	221935	broad.mit.edu	37	chr7	4185446	4185446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaggcagttcacagccaccGacctggccccggagtccgca	8	5	12	16	3	1	1	1	1	0	0	2	3	2	2	6	3	1	3	6	3	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:4185446G>A	ENST00000404826.2	+	29	4460	c.4321G>A	c.(4321-4323)Gac>Aac	p.D1441N	SDK1_ENST00000389531.3_Missense_Mutation_p.D1441N	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	1441	Fibronectin type-III 8.				cell adhesion	integral to membrane				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CACAGCCACCGACCTGGCCCC	0.667													A	4185446	G	A	4185446	3	1	532	1	0	0	0	0	1	0	0	0	14061	1058	37	1	4435	1	SDK1	7	4185446	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		4185446	154953217	22	46981											
PKD1L1	168507	broad.mit.edu	37	chr7	47897211	47897211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcagcttgtacctgcccagGagcttggctccctggatatg	6	11	12	12	0	1	0	1	0	0	0	2	2	2	2	3	3	4	4	3	3	2	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:47897211G>A	ENST00000289672.2	-	28	4632	c.4582C>T	c.(4582-4584)Cct>Tct	p.P1528S		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1528	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACCTGCCCAGGAGCTTGGCTC	0.493													A	47897211	G	A	47897211	3	1	532	1	0	0	0	0	1	0	0	0	12041	1174	41	2	4087	2	PKD1L1	7	47897211	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	43711765	47897211	111241452	23	46982											
PCLO	27445	broad.mit.edu	37	chr7	82580131	82580131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatagactgcagctccTccaactttttctgaaccatg	9	13	6	13	0	2	2	1	1	1	1	4	2	4	2	3	0	4	3	3	0	3	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:82580131T>C	ENST00000333891.9	-	6	10110	c.9773A>G	c.(9772-9774)gAg>gGg	p.E3258G	PCLO_ENST00000423517.2_Missense_Mutation_p.E3258G	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGCAGCTCCTCCAACTTTTT	0.453													C	82580131	T	C	82580131	3	2	532	1	0	0	0	0	1	0	0	0	11659	1551	54	3	5752	3	PCLO	7	82580131	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	34682920	82580131	76558532	24	46983											
ABCB1	5243	broad.mit.edu	37	chr7	87214993	87214993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaagccaatttgaatagcGaaactaaaaagagagaaaaa	22	6	8	5	1	1	3	1	1	0	2	1	5	1	3	1	0	3	0	1	0	10	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:87214993G>A	ENST00000265724.3	-	5	538	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	ABCB1_ENST00000543898.1_Missense_Mutation_p.R41C	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	41					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)	TTTGAATAGCGAAACTAAAAA	0.378													A	87214993	G	A	87214993	3	1	532	1	0	0	0	0	1	0	0	0	40	1058	37	1	3821	1	ABCB1	7	87214993	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4634862	87214993	71923670	25	46984											
DOCK4	9732	broad.mit.edu	37	chr7	111617325	111617325	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggggtgtctttcttccgaTgtcgatgttccatctgaatg	5	15	11	10	3	3	1	0	1	3	0	6	3	5	1	3	2	0	1	3	2	1	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:111617325T>A	ENST00000428084.1	-	8	835	c.563A>T	c.(562-564)cAt>cTt	p.H188L	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.H188L			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	188					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				TTTCTTCCGATGTCGATGTTC	0.502													A	111617325	T	A	111617325	3	1	532	1	0	0	0	0	1	0	0	0	4728	1464	51	5	5517	5	DOCK4	7	111617325	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	24402332	111617325	47521338	26	46985											
FOXP2	93986	broad.mit.edu	37	chr7	114270016	114270018	+	In_Frame_Del	DEL	CAG	CAG	-																															aacagcagcagcagcagcaaCagcagcagcagcagcaacag																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr7:114270016_114270018delCAG	ENST00000393500.3	+	11	1148_1150	c.328_330delCAG	c.(328-330)cagdel	p.Q116del	FOXP2_ENST00000350908.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000408937.3_In_Frame_Del_p.Q216del|FOXP2_ENST00000403559.4_In_Frame_Del_p.Q208del|FOXP2_ENST00000393494.2_In_Frame_Del_p.Q191del|FOXP2_ENST00000393498.2_In_Frame_Del_p.Q171del|FOXP2_ENST00000393491.3_In_Frame_Del_p.Q99del|FOXP2_ENST00000390668.3_In_Frame_Del_p.Q215del|FOXP2_ENST00000378237.3_In_Frame_Del_p.Q191del|FOXP2_ENST00000360232.4_In_Frame_Del_p.Q191del|FOXP2_ENST00000393489.3_In_Frame_Del_p.Q99del			O15409	FOXP2_HUMAN	forkhead box P2	191	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q210Q(2)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						gcagcagcaacagcagcagcagc	0.507													-	114270018	CAG	-	114270016	7	5	532	1	0	1	0	1	0	0	0	0	6078	479	17	0	701	0	FOXP2	7	114270016	In_Frame_Del	DEL	CAG	TCGA-HT-7604-01A-11D-2086-08	2652691	114270016	44868647	27	46986											
SLC20A2	6575	broad.mit.edu	37	chr8	42297083	42297083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagccttggcacctggtagCtctttaaatactggggactc	8	13	10	10	0	1	0	0	0	1	0	2	1	1	1	2	4	3	3	2	4	5	6			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr8:42297083C>T	ENST00000342228.3	-	7	1188	c.819G>A	c.(817-819)gaG>gaA	p.E273E	SLC20A2_ENST00000520179.1_Silent_p.E273E|SLC20A2_ENST00000520262.1_Silent_p.E273E	NM_006749.4	NP_006740.1	Q08357	S20A2_HUMAN	solute carrier family 20 (phosphate transporter), member 2	273					interspecies interaction between organisms	integral to plasma membrane|membrane fraction	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			breast(1)|endometrium(6)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|stomach(1)	26	all_lung(13;8.33e-12)|Lung NSC(13;1.41e-10)|Ovarian(28;0.00579)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;5.73e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00419)|Lung(22;0.0302)|LUSC - Lung squamous cell carcinoma(45;0.0869)			CACCTGGTAGCTCTTTAAATA	0.517													T	42297083	C	T	42297083	2	4	532	1	0	0	0	0	0	0	0	1	14533	796	28	2		2	SLC20A2	8	42297083	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		42297083	104066939	28	46987											
GATA3	2625	broad.mit.edu	37	chr10	8100386	8100386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccccttctccaagacGtccatccaccacggctcccc	7	7	5	22	2	2	1	1	0	1	1	6	1	5	1	8	1	1	1	8	1	1	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:8100386G>A	ENST00000379328.3	+	3	928	c.360G>A	c.(358-360)acG>acA	p.T120T	GATA3_ENST00000346208.3_Silent_p.T120T|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	120					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.T120T(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						TCTCCAAGACGTCCATCCACC	0.697			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						A	8100386	G	A	8100386	2	1	532	1	0	0	0	0	0	0	0	1	6309	1132	40	1		1	GATA3	10	8100386	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		8100386	127434361	29	46988											
FRMD4A	55691	broad.mit.edu	37	chr10	13698931	13698931	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcgccctcgtcgccgccGccgccgcgccagctctcctt	1	8	11	21	8	1	0	0	0	1	0	5	0	1	0	7	0	1	1	7	0	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr10:13698931G>A	ENST00000357447.2	-	22	3026	c.2658C>T	c.(2656-2658)ggC>ggT	p.G886G	FRMD4A_ENST00000358621.4_Silent_p.G871G|FRMD4A_ENST00000378503.1_Silent_p.G886G	NM_018027.3	NP_060497.3	Q9P2Q2	FRM4A_HUMAN	FERM domain containing 4A	886						cytoplasm|cytoskeleton	binding			breast(4)|endometrium(9)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	41						CGTCGCCGCCGCCGCCGCGCC	0.716													A	13698931	G	A	13698931	2	1	532	1	0	0	0	0	0	0	0	1	6103	1074	38	1		1	FRMD4A	10	13698931	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5598545	13698931	121835816	30	46989											
OR4X2	119764	broad.mit.edu	37	chr11	48267032	48267032	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcccctcagctacaccaCcatcatgaactggcaggtgt	11	7	8	15	0	2	1	2	1	0	0	2	1	2	1	4	2	4	2	4	2	3	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:48267032C>G	ENST00000302329.3	+	1	425	c.377C>G	c.(376-378)aCc>aGc	p.T126S		NM_001004727.1	NP_001004727.1	Q8NGF9	OR4X2_HUMAN	olfactory receptor, family 4, subfamily X, member 2	126					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(4)|lung(12)|pancreas(1)|stomach(1)|upper_aerodigestive_tract(1)	20						AGCTACACCACCATCATGAAC	0.498													G	48267032	C	G	48267032	3	3	532	1	0	0	0	0	1	0	0	0	11161	507	18	4	379	4	OR4X2	11	48267032	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		48267032	86739484	31	46990											
CPSF7	79869	broad.mit.edu	37	chr11	61178544	61178544	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgctctcccgggaccgGctaggtgacctttcccggga	4	9	13	15	3	1	1	0	1	1	0	3	3	2	3	4	4	2	3	4	4	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:61178544G>A	ENST00000340437.4	-	9	1496	c.1416C>T	c.(1414-1416)agC>agT	p.S472S	CPSF7_ENST00000448745.1_Silent_p.S420S|CPSF7_ENST00000394888.4_Silent_p.S429S|CPSF7_ENST00000439958.3_Silent_p.S420S	NM_024811.3	NP_079087.3	Q8N684	CPSF7_HUMAN	cleavage and polyadenylation specific factor 7, 59kDa	429					mRNA 3'-end processing|nuclear mRNA splicing, via spliceosome|protein tetramerization|termination of RNA polymerase II transcription	mRNA cleavage factor complex	nucleotide binding|protein binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	22						CCCGGGACCGGCTAGGTGACC	0.502													A	61178544	G	A	61178544	2	1	532	1	0	0	0	0	0	0	0	1	3861	1194	42	2		2	CPSF7	11	61178544	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	12911512	61178544	73827972	32	46991											
FGF3	2248	broad.mit.edu	37	chr11	69631175	69631175	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgcccacctccactgcCgttatctccaaaatacctag	12	9	4	16	1	1	0	0	0	1	0	3	0	2	0	6	0	3	1	6	0	6	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:69631175C>T	ENST00000334134.2	-	2	327	c.237G>A	c.(235-237)acG>acA	p.T79T		NM_005247.2	NP_005238.1	P11487	FGF3_HUMAN	fibroblast growth factor 3	79					fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of cardiac muscle tissue development|positive regulation of cell division|positive regulation of cell proliferation	extracellular region	growth factor activity	p.T79T(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	13			LUSC - Lung squamous cell carcinoma(11;5.05e-15)|STAD - Stomach adenocarcinoma(18;0.0278)			CCTCCACTGCCGTTATCTCCA	0.622													T	69631175	C	T	69631175	2	4	532	1	0	0	0	0	0	0	0	1	5902	639	23	1		1	FGF3	11	69631175	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	8452631	69631175	65375341	33	46992											
TYR	7299	broad.mit.edu	37	chr11	88961080	88961080	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgaatggaacaatgtccCaggtacagggatctgccaac	14	8	10	9	0	1	1	0	1	1	0	2	3	2	3	2	3	4	1	2	3	6	2	rs61754389		TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:88961080C>G	ENST00000263321.5	+	3	1628	c.1126C>G	c.(1126-1128)Cag>Gag	p.Q376E		NM_000372.4	NP_000363.1	P14679	TYRO_HUMAN	tyrosinase	376				TMSQVQ -> HVPGT (in Ref. 2; AAA61241).	eye pigment biosynthetic process|melanin biosynthetic process from tyrosine|visual perception	Golgi-associated vesicle|integral to membrane|lysosome|melanosome membrane|perinuclear region of cytoplasm	copper ion binding|monophenol monooxygenase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48		Acute lymphoblastic leukemia(157;2.33e-05)|all_hematologic(158;0.0033)			Azelaic Acid(DB00548)|Mimosine(DB01055)|NADH(DB00157)	AACAATGTCCCAGGTACAGGG	0.413													G	88961080	C	G	88961080	3	3	532	1	0	0	0	0	1	0	0	0	16915	595	21	4	1136	4	TYR	11	88961080	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	19329905	88961080	46045436	34	46993											
C11orf65	160140	broad.mit.edu	37	chr11	108256655	108256655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaatcacctacctttgaagTtagccgaagagttgcttgta	13	12	8	8	1	1	2	1	1	0	1	1	3	1	2	3	0	3	4	3	0	7	6			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:108256655T>C	ENST00000525729.1	-	6	701	c.632A>G	c.(631-633)aAc>aGc	p.N211S	C11orf65_ENST00000393084.1_Missense_Mutation_p.N260S|C11orf65_ENST00000529391.1_Missense_Mutation_p.N260S|C11orf65_ENST00000526725.1_Intron			Q8NCR3	CK065_HUMAN	chromosome 11 open reading frame 65	260										endometrium(1)|large_intestine(3)|lung(4)|ovary(2)	10		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;8.21e-06)|BRCA - Breast invasive adenocarcinoma(274;1.01e-05)|all cancers(92;0.000189)|Colorectal(284;0.114)|OV - Ovarian serous cystadenocarcinoma(223;0.144)		ACCTTTGAAGTTAGCCGAAGA	0.333													C	108256655	T	C	108256655	3	2	532	1	0	0	0	0	1	0	0	0	1667	1725	60	3	170	3	C11orf65	11	108256655	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	19295575	108256655	26749861	35	46994											
NNMT	4837	broad.mit.edu	37	chr11	114182852	114182852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgactcagagccagccactgGgggccgtccccttacccccg	6	6	11	18	2	1	2	1	1	0	1	2	2	2	2	7	2	3	0	7	2	1	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:114182852G>A	ENST00000535401.1	+	5	712	c.448G>A	c.(448-450)Ggg>Agg	p.G150R	NNMT_ENST00000541754.1_5'UTR|RP11-64D24.2_ENST00000544925.1_RNA|NNMT_ENST00000542647.1_5'UTR|NNMT_ENST00000545255.1_5'UTR|NNMT_ENST00000299964.3_Missense_Mutation_p.G150R			P40261	NNMT_HUMAN	nicotinamide N-methyltransferase	150					xenobiotic metabolic process	cytosol	nicotinamide N-methyltransferase activity|pyridine N-methyltransferase activity			kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(61;4.83e-16)|all_epithelial(67;7.28e-09)|all_hematologic(158;0.000135)|Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.0906)		BRCA - Breast invasive adenocarcinoma(274;2.79e-06)|Epithelial(105;1.32e-05)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.128)	Niacin(DB00627)	CCAGCCACTGGGGGCCGTCCC	0.602													A	114182852	G	A	114182852	3	1	532	1	0	0	0	0	1	0	0	0	10585	1232	43	2	458	2	NNMT	11	114182852	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	5926197	114182852	20823664	36	46995											
H2AFX	3014	broad.mit.edu	37	chr11	118965808	118965809	+	Frame_Shift_Ins	INS	-	-	C																															cctgggcgatcgtcacgccgINScccagcagcttgttgagctc																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr11:118965808_118965809insC	ENST00000530167.1	-	1	368_369	c.296_297insG	c.(295-297)ggcfs	p.G99fs		NM_002105.2	NP_002096.1	P16104	H2AX_HUMAN	H2A histone family, member X	99					DNA damage checkpoint|double-strand break repair via homologous recombination|meiosis|nucleosome assembly|positive regulation of DNA repair|response to ionizing radiation	nucleoplasm|nucleosome	DNA binding|enzyme binding|histone binding			lung(3)	3	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.47e-05)		TCGTCACGCCGCCCAGCAGCTT	0.693								Chromatin Structure			OREG0021395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	118965809	-	C	118965808	7	5	532	1	0	1	1	0	0	0	0	0	6983	1074	38	0	138	0	H2AFX	11	118965808	Frame_Shift_Ins	INS	-	TCGA-HT-7604-01A-11D-2086-08	4782956	118965808	16040708	37	46996											
ITPR2	3709	broad.mit.edu	37	chr12	26985668	26985668	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccgagccctccgcgtacaggGacacgatgtcccctatgtag	8	7	11	15	4	0	0	0	0	0	0	2	3	2	1	5	1	2	2	5	1	3	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr12:26985668G>A	ENST00000381340.3	-	1	463	c.47C>T	c.(46-48)tCc>tTc	p.S16F	ITPR2_ENST00000242737.5_Missense_Mutation_p.S16F	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	16					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					CGCGTACAGGGACACGATGTC	0.622													A	26985668	G	A	26985668	3	1	532	1	0	0	0	0	1	0	0	0	7979	1174	41	2	8286	2	ITPR2	12	26985668	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08		26985668	106866227	38	46997											
IGDCC4	57722	broad.mit.edu	37	chr15	65684524	65684524	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgagccggacaggcccCacatcccaagcctggtctcc	7	8	9	17	1	2	1	0	1	2	0	4	2	3	2	6	3	2	0	6	3	1	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr15:65684524C>T	ENST00000352385.2	-	11	2279	c.2070G>A	c.(2068-2070)gtG>gtA	p.V690V		NM_020962.1	NP_066013.1	Q8TDY8	IGDC4_HUMAN	immunoglobulin superfamily, DCC subclass, member 4	690	Fibronectin type-III 3.					integral to membrane|plasma membrane				NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	44						GGACAGGCCCCACATCCCAAG	0.622													T	65684524	C	T	65684524	2	4	532	1	0	0	0	0	0	0	0	1	7627	581	21	2		2	IGDCC4	15	65684524	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		65684524	36846868	39	46998											
MGRN1	23295	broad.mit.edu	37	chr16	4732911	4732911	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccctcccccactgggtggCgcagagctggccctgcggga	4	5	15	17	2	0	1	0	0	0	1	1	2	1	2	5	4	2	2	5	4	0	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:4732911C>T	ENST00000399577.5	+	14	1539	c.1446C>T	c.(1444-1446)ggC>ggT	p.G482G	MGRN1_ENST00000262370.7_Silent_p.G482G|MGRN1_ENST00000586183.1_Silent_p.G460G|MGRN1_ENST00000415496.1_Silent_p.G461G|MGRN1_ENST00000588994.1_Silent_p.G460G	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase	482					endosome to lysosome transport|negative regulation of cAMP-mediated signaling|negative regulation of G-protein coupled receptor protein signaling pathway|protein monoubiquitination	cytosol|early endosome|nucleus|plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CACTGGGTGGCGCAGAGCTGG	0.701													T	4732911	C	T	4732911	2	4	532	1	0	0	0	0	0	0	0	1	9634	755	27	1		1	MGRN1	16	4732911	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08		4732911	85621842	40	46999											
IRF8	3394	broad.mit.edu	37	chr16	85952180	85952180	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagctggtgcgcttcccGccggccgacgccatccccag	4	6	13	18	5	0	0	0	0	0	0	2	2	2	1	6	3	2	2	6	3	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr16:85952180G>A	ENST00000268638.5	+	7	1181	c.759G>A	c.(757-759)ccG>ccA	p.P253P	IRF8_ENST00000562492.1_Silent_p.P49P	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	253					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TGCGCTTCCCGCCGGCCGACG	0.741													A	85952180	G	A	85952180	2	1	532	1	0	0	0	0	0	0	0	1	7894	1074	38	1		1	IRF8	16	85952180	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	81219269	85952180	4402573	41	47000											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567		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)			T	7577570	C	T	7577570	3	4	532	1	0	0	0	0	1	0	0	0	16482	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08		7577570	73617640	42	47001											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	532	1	0	0	0	0	0	1	0	0	16482	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	693	7578263	73616947	43	47002											
CLUL1	27098	broad.mit.edu	37	chr18	618009	618009	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagcgggaacatgaagccGccactcttggtgtttattgt	10	11	11	9	2	1	1	0	1	1	0	1	2	1	2	2	2	4	1	2	2	4	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:618009G>A	ENST00000581619.1	+	2	931	c.84G>A	c.(82-84)ccG>ccA	p.P28P	CLUL1_ENST00000540035.1_Silent_p.P55P|CLUL1_ENST00000338387.7_Silent_p.P3P|CLUL1_ENST00000580436.1_3'UTR|CLUL1_ENST00000400606.2_Silent_p.P3P|CLUL1_ENST00000579494.1_Silent_p.P3P			Q15846	CLUL1_HUMAN	clusterin-like 1 (retinal)	3					cell death	extracellular region				NS(1)|breast(1)|endometrium(5)|large_intestine(5)|liver(2)|lung(7)|ovary(2)|skin(1)	24						ACATGAAGCCGCCACTCTTGG	0.448													A	618009	G	A	618009	2	1	532	1	0	0	0	0	0	0	0	1	3601	1074	38	1		1	CLUL1	18	618009	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08		618009	77459239	44	47003											
LIPG	9388	broad.mit.edu	37	chr18	47107968	47107968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctacaatgccaagaaaaTgaggaacaagaggaacagca	19	4	11	7	0	0	3	0	1	0	2	0	5	0	5	1	3	5	2	1	3	8	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:47107968T>C	ENST00000261292.4	+	6	1255	c.977T>C	c.(976-978)aTg>aCg	p.M326T	LIPG_ENST00000577628.1_Missense_Mutation_p.M362T|LIPG_ENST00000580036.1_Missense_Mutation_p.M326T|LIPG_ENST00000427224.2_Missense_Mutation_p.M252T	NM_006033.2	NP_006024.1	Q9Y5X9	LIPE_HUMAN	lipase, endothelial	326	Heparin-binding (By similarity).				cholesterol homeostasis|high-density lipoprotein particle remodeling|phospholipid catabolic process|phospholipid homeostasis|positive regulation of cholesterol transport|positive regulation of high-density lipoprotein particle clearance|reverse cholesterol transport	extracellular space	heparin binding|lipoprotein lipase activity|phospholipase A1 activity|protein binding|triglyceride lipase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(2)|skin(2)	18						GCCAAGAAAATGAGGAACAAG	0.493													C	47107968	T	C	47107968	3	2	532	1	0	0	0	0	1	0	0	0	8884	1464	51	3	999	3	LIPG	18	47107968	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08	46489959	47107968	30969280	45	47004											
NFATC1	4772	broad.mit.edu	37	chr18	77227575	77227575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgtttcacctaccttccCgccaacggtaacgccatctt	8	10	6	17	4	2	0	1	0	1	0	3	0	3	0	5	1	4	2	5	1	3	5			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr18:77227575C>T	ENST00000253506.5	+	8	2454	c.2085C>T	c.(2083-2085)ccC>ccT	p.P695P	NFATC1_ENST00000542384.1_Silent_p.P695P|NFATC1_ENST00000591814.1_Silent_p.P695P|NFATC1_ENST00000329101.4_Silent_p.P682P|NFATC1_ENST00000427363.2_Silent_p.P695P|NFATC1_ENST00000545796.1_Silent_p.P223P|NFATC1_ENST00000586434.1_Silent_p.P682P|NFATC1_ENST00000592223.1_Silent_p.P682P|NFATC1_ENST00000397790.2_Silent_p.P223P|NFATC1_ENST00000587635.1_3'UTR|NFATC1_ENST00000318065.5_Silent_p.P682P	NM_006162.3	NP_006153.2	O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	695					intracellular signal transduction|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleus	FK506 binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)		CCTACCTTCCCGCCAACGGTA	0.532													T	77227575	C	T	77227575	2	4	532	1	0	0	0	0	0	0	0	1	10437	639	23	1		1	NFATC1	18	77227575	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	30119607	77227575	849673	46	47005											
MUC16	94025	broad.mit.edu	37	chr19	9062722	9062722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgctcacaagagtggTcatctctgagtgtgaaaatc	10	12	10	9	0	4	3	2	2	2	1	6	3	4	3	0	1	1	2	0	1	3	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:9062722T>C	ENST00000397910.4	-	3	24927	c.24724A>G	c.(24724-24726)Acc>Gcc	p.T8242A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8244	Ser-rich.|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						ACAAGAGTGGTCATCTCTGAG	0.498													C	9062722	T	C	9062722	3	2	532	1	0	0	0	0	1	0	0	0	10049	1667	58	3	19127	3	MUC16	19	9062722	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		9062722	50066261	47	47006											
HKR1	284459	broad.mit.edu	37	chr19	37838730	37838730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagctggagcgaggggaagCgccctggagagaggagagaa	12	3	19	7	2	1	2	1	0	0	2	1	9	1	6	1	5	3	1	1	5	2	0			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:37838730C>T	ENST00000324411.4	+	5	538	c.269C>T	c.(268-270)gCg>gTg	p.A90V	HKR1_ENST00000541583.2_Missense_Mutation_p.A29V|HKR1_ENST00000544914.1_5'UTR|HKR1_ENST00000392153.3_Missense_Mutation_p.A71V|HKR1_ENST00000591259.1_Missense_Mutation_p.A71V|HKR1_ENST00000586897.1_Missense_Mutation_p.A29V|HKR1_ENST00000591417.1_Missense_Mutation_p.A29V|HKR1_ENST00000591134.1_Missense_Mutation_p.A29V|HKR1_ENST00000589392.1_Missense_Mutation_p.A71V|HKR1_ENST00000592168.1_Missense_Mutation_p.A29V|HKR1_ENST00000591471.1_5'UTR	NM_181786.2	NP_861451.1	P10072	HKR1_HUMAN	HKR1, GLI-Kruppel zinc finger family member	90	KRAB.				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			CGAGGGGAAGCGCCCTGGAGA	0.493													T	37838730	C	T	37838730	3	4	532	1	0	0	0	0	1	0	0	0	7249	768	27	1	279	1	HKR1	19	37838730	Missense_Mutation	SNP	C	TCGA-HT-7604-01A-11D-2086-08	28776008	37838730	21290253	48	47007											
RYR1	6261	broad.mit.edu	37	chr19	38995497	38995497	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctcatctaaggcagagaaaaAggccacagtggatgctgaag	15	6	12	8	0	2	2	1	1	1	1	2	4	2	3	1	3	1	2	1	3	4	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:38995497A>G	ENST00000355481.4	+	51	8308	c.8177A>G	c.(8176-8178)aAg>aGg	p.K2726R	RYR1_ENST00000359596.3_Missense_Mutation_p.K2726R|RYR1_ENST00000360985.3_Missense_Mutation_p.K2726R	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2726	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GCAGAGAAAAAGGCCACAGTG	0.597													G	38995497	A	G	38995497	3	3	532	1	0	0	0	0	1	0	0	0	13859	72	3	3	8379	3	RYR1	19	38995497	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	1156767	38995497	20133486	49	47008											
MYPOP	339344	broad.mit.edu	37	chr19	46394511	46394511	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtgggcagcccccttcCtggggagtgcaggagggccg	4	5	19	13	2	0	0	0	0	0	0	1	2	1	2	5	6	2	2	5	6	0	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:46394511C>T	ENST00000322217.5	-	3	656	c.570G>A	c.(568-570)caG>caA	p.Q190Q		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	190	Pro-rich.					nucleus	DNA binding			large_intestine(2)|lung(1)|skin(1)	4						AGCCCCCTTCCTGGGGAGTGC	0.677													T	46394511	C	T	46394511	2	4	532	1	0	0	0	0	0	0	0	1	10175	680	24	2		2	MYPOP	19	46394511	Silent	SNP	C	TCGA-HT-7604-01A-11D-2086-08	7399014	46394511	12734472	50	47009											
ZC3H4	23211	broad.mit.edu	37	chr19	47593321	47593321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgtcctcctcctcgtcGccctcatattccccatactg	5	12	4	20	2	1	0	1	0	0	0	7	0	5	0	7	0	1	0	7	0	2	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:47593321G>A	ENST00000253048.5	-	5	655	c.618C>T	c.(616-618)ggC>ggT	p.G206G	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	206							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		CCTCCTCGTCGCCCTCATATT	0.577													A	47593321	G	A	47593321	2	1	532	1	0	0	0	0	0	0	0	1	17671	1074	38	1		1	ZC3H4	19	47593321	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	1198810	47593321	11535662	51	47010											
CCDC155	147872	broad.mit.edu	37	chr19	49898432	49898432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagggcccccaggatgcacGcctccaaacattggccaaca	11	4	9	17	1	0	0	0	0	0	0	1	1	1	1	6	3	3	1	6	3	2	1			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr19:49898432G>A	ENST00000447857.3	+	4	423	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	73						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						CAGGATGCACGCCTCCAAACA	0.622													A	49898432	G	A	49898432	3	1	532	1	0	0	0	0	1	0	0	0	2815	1087	38	1	228	1	CCDC155	19	49898432	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	2305111	49898432	9230551	52	47011											
C20orf194	25943	broad.mit.edu	37	chr20	3356865	3356865	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcagatttctccaaTgtgccacataaggtaagaga	15	9	10	7	0	1	2	0	0	1	2	2	4	1	3	2	2	2	2	2	2	4	3			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:3356865T>C	ENST00000252032.9	-	4	435	c.368A>G	c.(367-369)cAt>cGt	p.H123R		NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	123										NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						ATTTCTCCAATGTGCCACATA	0.368													C	3356865	T	C	3356865	3	2	532	1	0	0	0	0	1	0	0	0	2120	1464	51	3	3301	3	C20orf194	20	3356865	Missense_Mutation	SNP	T	TCGA-HT-7604-01A-11D-2086-08		3356865	59668655	53	47012											
PCK1	5105	broad.mit.edu	37	chr20	56139236	56139236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actctccaggtcatttaaggGccatcaacccagaaaatggc	13	8	8	12	0	3	1	2	0	1	1	4	1	3	1	3	3	1	0	3	3	4	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:56139236G>A	ENST00000319441.4	+	7	1137	c.973G>A	c.(973-975)Gcc>Acc	p.A325T	PCK1_ENST00000543666.1_Missense_Mutation_p.A8T|PCK1_ENST00000535860.1_Missense_Mutation_p.A193T	NM_002591.3	NP_002582.3	P35558	PCKGC_HUMAN	phosphoenolpyruvate carboxykinase 1 (soluble)	325					gluconeogenesis|glucose homeostasis|glycerol biosynthetic process from pyruvate|response to insulin stimulus	cytosol|nucleus	carboxylic acid binding|GTP binding|magnesium ion binding|manganese ion binding|phosphoenolpyruvate carboxykinase (GTP) activity	p.A325T(1)		endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(19)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	34	Lung NSC(12;0.000764)|all_lung(29;0.00264)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;9.88e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.13e-07)			TCATTTAAGGGCCATCAACCC	0.448													A	56139236	G	A	56139236	3	1	532	1	0	0	0	0	1	0	0	0	11657	1203	42	2	995	2	PCK1	20	56139236	Missense_Mutation	SNP	G	TCGA-HT-7604-01A-11D-2086-08	52782371	56139236	6886284	54	47013											
CDH4	1002	broad.mit.edu	37	chr20	60498709	60498709	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgtgccccccggcaccgtGctgaccacgttttcagctgt	4	9	12	16	4	1	1	1	1	0	0	1	1	1	1	5	2	3	4	5	2	0	2			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chr20:60498709G>T	ENST00000360469.5	+	10	1663	c.1575G>T	c.(1573-1575)gtG>gtT	p.V525V	CDH4_ENST00000543233.1_Silent_p.V451V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	525	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CCGGCACCGTGCTGACCACGT	0.622													T	60498709	G	T	60498709	2	4	532	1	0	0	0	0	0	0	0	1	3142	1306	46	4		4	CDH4	20	60498709	Silent	SNP	G	TCGA-HT-7604-01A-11D-2086-08	4359473	60498709	2526811	55	47014											
ATRX	546	broad.mit.edu	37	chrX	76937745	76937745	+	Frame_Shift_Del	DEL	T	T	-																															tgttgttccattttaattacTtttttcttaaagtctgaagg																										TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:76937745delT	ENST00000373344.5	-	9	3217	c.3003delA	c.(3001-3003)aaafs	p.K1001fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K963fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1001					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)	TTTTAATTACTTTTTTCTTAA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937745	T	-	76937745	7	5	532	1	0	1	0	1	0	0	0	0	1213	1606	56	0	4583	0	ATRX	23	76937745	Frame_Shift_Del	DEL	T	TCGA-HT-7604-01A-11D-2086-08		76937745	78332815	56	47015											
XIAP	331	broad.mit.edu	37	chrX	123034427	123034427	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaagaaaataatggaggAaaaaattcagatatctggga	20	9	9	3	0	2	2	1	0	1	2	2	5	2	5	0	3	0	0	0	3	8	4			TCGA-HT-7604-01A-11D-2086-08	TCGA-HT-7604-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5211e243-bc17-4e8b-923c-8ca6cec24a7e	2d99f565-7fa6-435a-aa7a-f10f78fe5b90	g.chrX:123034427A>G	ENST00000371199.3	+	6	1483	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	XIAP_ENST00000355640.3_Missense_Mutation_p.E395G|XIAP_ENST00000468691.1_3'UTR|XIAP_ENST00000434753.3_Missense_Mutation_p.E395G	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	395					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						ATAATGGAGGAAAAAATTCAG	0.368									X-linked Lymphoproliferative syndrome				G	123034427	A	G	123034427	3	3	532	1	0	0	0	0	1	0	0	0	17530	246	9	3	1202	3	XIAP	23	123034427	Missense_Mutation	SNP	A	TCGA-HT-7604-01A-11D-2086-08	46096682	123034427	32236133	57	47016											
CLIC4	25932	broad.mit.edu	37	chr1	25140630	25140630	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcccgggacccacccaccAtttataactttcaacagtga	11	9	6	15	1	1	1	1	1	0	0	2	2	2	2	4	1	2	1	4	1	3	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:25140630A>G	ENST00000374379.4	+	3	425	c.228A>G	c.(226-228)ccA>ccG	p.P76P	CLIC4_ENST00000497755.1_3'UTR	NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	76	Required for insertion into the membrane (Probable).				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		CCCACCCACCATTTATAACTT	0.398													G	25140630	A	G	25140630	2	3	533	1	0	0	0	0	0	0	0	1	3559	204	8	3		3	CLIC4	1	25140630	Silent	SNP	A	TCGA-HT-7605-01A-11D-2086-08		25140630	224109991	1	47017											
PTPRU	10076	broad.mit.edu	37	chr1	29585123	29585123	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtgtgcagttcagctaCttcctgtacagccgggacgg	7	10	12	12	2	1	0	1	0	0	0	2	1	2	1	2	2	5	4	2	2	2	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:29585123C>A	ENST00000356870.3	+	3	422	c.312C>A	c.(310-312)taC>taA	p.Y104*	PTPRU_ENST00000345512.3_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000428026.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000323874.8_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000460170.2_Nonsense_Mutation_p.Y104*|PTPRU_ENST00000373779.3_Nonsense_Mutation_p.Y104*	NM_133177.3	NP_573438.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	104	MAM.				canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		AGTTCAGCTACTTCCTGTACA	0.602													A	29585123	C	A	29585123	4	1	533	1	0	0	0	0	0	1	0	0	12901	576	20	4	322	4	PTPRU	1	29585123	Nonsense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	4444493	29585123	219665498	2	47018											
SH3BP5L	80851	broad.mit.edu	37	chr1	249107313	249107313	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggcacagccgagtcactcGctggtgctcccgctcacctc	5	9	10	17	3	2	0	2	0	0	0	5	1	3	0	3	2	2	4	3	2	0	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr1:249107313G>A	ENST00000366472.5	-	6	1815	c.586C>T	c.(586-588)Cga>Tga	p.R196*	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Nonsense_Mutation_p.R164*	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	196										endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			CGAGTCACTCGCTGGTGCTCC	0.632													A	249107313	G	A	249107313	4	1	533	1	0	0	0	0	0	1	0	0	14341	1095	38	1	603	1	SH3BP5L	1	249107313	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	219522190	249107313	143308	3	47019											
GEMIN6	79833	broad.mit.edu	37	chr2	39008705	39008705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggcagcatgtctgtgaccGgaattatgggacatgctgtg	9	11	14	7	1	1	1	0	1	1	0	1	3	1	3	1	3	2	3	1	3	2	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:39008705G>A	ENST00000281950.3	+	3	291	c.175G>A	c.(175-177)Gga>Aga	p.G59R	GEMIN6_ENST00000409011.1_3'UTR|GEMIN6_ENST00000409566.1_3'UTR	NM_024775.9	NP_079051.9	Q8WXD5	GEMI6_HUMAN	gem (nuclear organelle) associated protein 6						ncRNA metabolic process|spliceosomal snRNP assembly|spliceosome assembly	Cajal body|cytosol|spliceosomal complex	protein binding			kidney(1)|large_intestine(3)|pancreas(1)	5		all_hematologic(82;0.21)				GTCTGTGACCGGAATTATGGG	0.443													A	39008705	G	A	39008705	3	1	533	1	0	0	0	0	1	0	0	0	6388	1117	39	1	181	1	GEMIN6	2	39008705	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39008705	204190668	4	47020											
ACTG2	72	broad.mit.edu	37	chr2	74146597	74146597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggaagtactcagtctggatCgggggctctatcctggcctc	6	10	13	12	2	3	0	1	0	2	0	6	2	4	2	2	5	1	2	2	5	3	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:74146597C>T	ENST00000409624.1	+	10	1669	c.1026C>T	c.(1024-1026)atC>atT	p.I342I	ACTG2_ENST00000409731.3_Silent_p.I299I|ACTG2_ENST00000345517.3_Silent_p.I342I			P63267	ACTH_HUMAN	actin, gamma 2, smooth muscle, enteric	342					muscle contraction	cytoskeleton|cytosol	ATP binding			large_intestine(3)|lung(14)|skin(1)	18						CAGTCTGGATCGGGGGCTCTA	0.527													T	74146597	C	T	74146597	2	4	533	1	0	0	0	0	0	0	0	1	197	874	31	1		1	ACTG2	2	74146597	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08	35137892	74146597	169052776	5	47021											
KDM3A	55818	broad.mit.edu	37	chr2	86697513	86697513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactcacctgtgttttgccGcttctttcacttcaggaggt	5	15	10	11	1	4	0	3	0	1	0	4	2	4	2	2	3	1	2	2	3	0	5			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:86697513G>A	ENST00000409556.1	+	12	2071	c.1706G>A	c.(1705-1707)cGc>cAc	p.R569H	KDM3A_ENST00000542128.1_Missense_Mutation_p.R517H|KDM3A_ENST00000312912.5_Missense_Mutation_p.R569H|KDM3A_ENST00000409064.1_Missense_Mutation_p.R569H|KDM3A_ENST00000485171.1_3'UTR			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	569					androgen receptor signaling pathway|cell differentiation|formaldehyde biosynthetic process|histone H3-K9 demethylation|hormone-mediated signaling pathway|positive regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	androgen receptor binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						GTGTTTTGCCGCTTCTTTCAC	0.453													A	86697513	G	A	86697513	3	1	533	1	0	0	0	0	1	0	0	0	8184	1087	38	1	1744	1	KDM3A	2	86697513	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	12550916	86697513	156501860	6	47022											
UXS1	80146	broad.mit.edu	37	chr2	106746145	106746145	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccaacatgtttaatgTcccaatcgtattggtcttta	10	16	5	10	1	1	0	0	0	1	0	3	0	2	0	2	1	2	2	2	1	6	7			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:106746145T>C	ENST00000283148.7	-	7	659	c.562A>G	c.(562-564)Aca>Gca	p.T188A	UXS1_ENST00000540130.1_Missense_Mutation_p.T126A|UXS1_ENST00000409032.1_Missense_Mutation_p.T15A|UXS1_ENST00000428048.2_Intron|UXS1_ENST00000409501.3_Missense_Mutation_p.T183A	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	183					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						ATGTTTAATGTCCCAATCGTA	0.378													C	106746145	T	C	106746145	3	2	533	1	0	0	0	0	1	0	0	0	17211	1667	58	3	751	3	UXS1	2	106746145	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	20048632	106746145	136453228	7	47023											
NCKAP5	344148	broad.mit.edu	37	chr2	133721292	133721292	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaaaattgcttcatttcttaCctctagagctttcaatctct	11	17	3	10	0	5	1	2	0	3	1	6	1	5	1	1	0	3	2	1	0	5	6			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:133721292C>T	ENST00000409261.1	-	8	953		c.e8+1		NCKAP5_ENST00000405974.3_Splice_Site|NCKAP5_ENST00000409213.1_Splice_Site|NCKAP5_ENST00000317721.6_Splice_Site	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5								protein binding	p.?(2)		NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						TCATTTCTTACCTCTAGAGCT	0.368													T	133721292	C	T	133721292	5	4	533	1	0	0	0	0	0	0	1	0	10299	521	18	2	5201	2	NCKAP5	2	133721292	Splice_Site	SNP	C	TCGA-HT-7605-01A-11D-2086-08	26975147	133721292	109478081	8	47024											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	533	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	75391820	209113112	34086261	9	47025											
MARCH4	57574	broad.mit.edu	37	chr2	217234779	217234779	+	Frame_Shift_Del	DEL	G	G	-																															ggccgccaaaccggggggctGggggtcgccgtgcatgggca																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr2:217234779delG	ENST00000273067.4	-	1	1971	c.205delC	c.(205-207)cagfs	p.Q69fs		NM_020814.2	NP_065865.1	Q9P2E8	MARH4_HUMAN	membrane-associated ring finger (C3HC4) 4, E3 ubiquitin protein ligase	69	Pro-rich.					Golgi membrane|Golgi stack|integral to membrane|trans-Golgi network	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(1)	20		Renal(323;0.0854)		Epithelial(149;2.19e-05)|all cancers(144;0.00121)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(261;0.0125)		CCGGGGGGCTGGGGGTCGCCG	0.701													-	217234779	G	-	217234779	7	5	533	1	0	1	0	1	0	0	0	0	9378	1357	47	0	1043	0	MARCH4	2	217234779	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08	8121667	217234779	25964594	10	47026											
PBRM1	55193	broad.mit.edu	37	chr3	52598217	52598217	+	Frame_Shift_Del	DEL	G	G	-																															ttcagttggcctgcaggagaGgaagtccttgaatgacaaca																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:52598217delG	ENST00000356770.4	-	22	3630	c.3628delC	c.(3628-3630)ctcfs	p.L1210fs	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.L1217fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.L1257fs|PBRM1_ENST00000296302.7_Frame_Shift_Del_p.L1242fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.L1257fs			Q86U86	PB1_HUMAN	polybromo 1	1242	BAH 2.		Missing (found in a case of clear cell renal carcinoma; somatic mutation).		chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CTGCAGGAGAGGAAGTCCTTG	0.383			"Mis, N, F, S, D, O"		"clear cell renal carcinoma, breast"								-	52598217	G	-	52598217	7	5	533	1	0	1	0	1	0	0	0	0	11567	1000	35	0	1208	0	PBRM1	3	52598217	Frame_Shift_Del	DEL	G	TCGA-HT-7605-01A-11D-2086-08		52598217	145424213	11	47027											
ZBTB20	26137	broad.mit.edu	37	chr3	114069165	114069166	+	Frame_Shift_Del	DEL	AA	AA	-																															cgtagttctgtttggcggtgAaagtcttgttgcagagagtg																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:114069165_114069166delAA	ENST00000462705.1	-	11	2361_2362	c.1540_1541delTT	c.(1540-1542)ttcfs	p.F514fs	ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.F587fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.F514fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.F514fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	587					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TTTGGCGGTGAAAGTCTTGTTG	0.599													-	114069166	AA	-	114069165	7	5	533	1	0	1	0	1	0	0	0	0	17630	246	9	0	473	0	ZBTB20	3	114069165	Frame_Shift_Del	DEL	AA	TCGA-HT-7605-01A-11D-2086-08	61470948	114069165	83953265	12	47028											
FBXO40	51725	broad.mit.edu	37	chr3	121340407	121340407	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccacctgctctgtggtgCcaccttccacatgtgcaaag	7	10	9	15	0	1	0	0	0	1	0	2	0	2	0	5	1	4	2	5	1	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:121340407C>G	ENST00000338040.4	+	3	545	c.131C>G	c.(130-132)gCc>gGc	p.A44G		NM_016298.3	NP_057382.2	Q9UH90	FBX40_HUMAN	F-box protein 40	44					muscle cell differentiation	centrosome|nucleus	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(11)|lung(19)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	46				GBM - Glioblastoma multiforme(114;0.189)		CTCTGTGGTGCCACCTTCCAC	0.572													G	121340407	C	G	121340407	3	3	533	1	0	0	0	0	1	0	0	0	5798	739	26	4	137	4	FBXO40	3	121340407	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	7271242	121340407	76682023	13	47029											
PIK3CA	5290	broad.mit.edu	37	chr3	178936092	178936092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctctctgaaatcactgAgcaggagaaagattttctat	12	13	7	9	0	4	4	1	2	3	2	6	5	5	4	1	1	1	1	1	1	3	3	rs121913274		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:178936092A>G	ENST00000263967.3	+	10	1791	c.1634A>G	c.(1633-1635)gAg>gGg	p.E545G		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	545	PI3K helical.		E -> A (in cancer).|E -> G (in KERSEB).|E -> K (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N-terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E545A(96)|p.E545G(78)|p.E545V(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAATCACTGAGCAGGAGAAA	0.353	E545A(AGS_STOMACH)|E545G(KCL22_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178936092	A	G	178936092	3	3	533	1	0	0	0	0	1	0	0	0	11990	304	11	3	1668	3	PIK3CA	3	178936092	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	57595685	178936092	19086338	14	47030											
KIAA0226	9711	broad.mit.edu	37	chr3	197408183	197408183	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgggcattctcgtggcaGcactggcagaagtacttgcc	8	10	12	11	1	2	1	0	0	2	1	3	1	2	1	1	3	3	5	1	3	2	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr3:197408183G>A	ENST00000273582.5	-	17	2657	c.2112C>T	c.(2110-2112)tgC>tgT	p.C704C	KIAA0226_ENST00000296343.5_Silent_p.C749C|KIAA0226_ENST00000389665.5_Silent_p.C774C	NM_001145642.2	NP_001139114.1	Q92622	RUBIC_HUMAN	KIAA0226	749					autophagy|endocytosis|negative regulation of autophagy|negative regulation of endocytosis	early endosome|late endosome|lysosome	protein binding			NS(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(143;8.26e-10)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;2.19e-23)|all cancers(36;1.39e-21)|OV - Ovarian serous cystadenocarcinoma(49;1.21e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(93;0.0446)		TCTCGTGGCAGCACTGGCAGA	0.527													A	197408183	G	A	197408183	2	1	533	1	0	0	0	0	0	0	0	1	8220	963	34	2		2	KIAA0226	3	197408183	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	18472091	197408183	614247	15	47031											
FIP1L1	81608	broad.mit.edu	37	chr4	54324903	54324904	+	Frame_Shift_Del	DEL	AT	AT	-																															tcgagaaaaagaagaacgacAtagagaaagacgacacaggg																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:54324903_54324904delAT	ENST00000337488.6	+	17	1777_1778	c.1583_1584delAT	c.(1582-1584)catfs	p.H528fs	FIP1L1_ENST00000306932.6_Frame_Shift_Del_p.H454fs|FIP1L1_ENST00000358575.5_Frame_Shift_Del_p.H522fs|FIP1L1_ENST00000507166.1_Intron	NM_030917.3	NP_112179.2	Q6UN15	FIP1_HUMAN	factor interacting with PAPOLA and CPSF1	528	Arg-rich.|Glu-rich.|Sufficient for interaction with CPSF1 and CSTF3.				mRNA processing	nucleus	RNA binding			large_intestine(3)|liver(1)|ovary(1)|skin(1)	6			GBM - Glioblastoma multiforme(3;3.31e-36)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAAGAACGACATAGAGAAAGAC	0.381			T	PDGFRA	idiopathic hypereosinophilic syndrome								-	54324904	AT	-	54324903	7	5	533	1	0	1	0	1	0	0	0	0	5945	217	8	0	1680	0	FIP1L1	4	54324903	Frame_Shift_Del	DEL	AT	TCGA-HT-7605-01A-11D-2086-08		54324903	136829373	16	47032											
AGPAT9	84803	broad.mit.edu	37	chr4	84509367	84509367	+	Frame_Shift_Del	DEL	A	A	-																															tttctatttccttcagcctcAaaaactggctgagtgaactg																								rs140308062	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:84509367delA	ENST00000395226.2	+	6	777	c.559delA	c.(559-561)aaafs	p.K187fs	AGPAT9_ENST00000264409.4_Frame_Shift_Del_p.K187fs	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	187					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CTTCAGCCTCAAAAACTGGCT	0.413													-	84509367	A	-	84509367	7	5	533	1	0	1	0	1	0	0	0	0	392	131	5	0	577	0	AGPAT9	4	84509367	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08	30184464	84509367	106644909	17	47033											
KIAA0922	23240	broad.mit.edu	37	chr4	154542876	154542876	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagcttgtgtgcagtgactTtgagaggtctgagctgagca	10	11	14	6	0	1	4	0	4	1	1	1	5	1	4	0	1	4	4	0	1	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:154542876T>A	ENST00000409959.3	+	28	3783	c.3734T>A	c.(3733-3735)tTt>tAt	p.F1245Y	KIAA0922_ENST00000440693.1_Missense_Mutation_p.F1161Y|KIAA0922_ENST00000409663.3_Missense_Mutation_p.F1244Y	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	1244						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				TGCAGTGACTTTGAGAGGTCT	0.433													A	154542876	T	A	154542876	3	1	533	1	0	0	0	0	1	0	0	0	8259	1841	64	5	3844	5	KIAA0922	4	154542876	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	70033509	154542876	36611400	18	47034											
DCHS2	54798	broad.mit.edu	37	chr4	155163900	155163900	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagaaagcctgggcatcccTttatctgtggcttggacaat	9	13	10	9	0	1	1	0	0	1	1	2	2	2	2	2	3	1	2	2	3	4	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr4:155163900T>C	ENST00000357232.4	-	22	5600	c.5601A>G	c.(5599-5601)aaA>aaG	p.K1867K		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGGCATCCCTTTATCTGTGG	0.378													C	155163900	T	C	155163900	2	2	533	1	0	0	0	0	0	0	0	1	4322	1606	56	3		3	DCHS2	4	155163900	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	621024	155163900	35990376	19	47035											
C6orf165	154313	broad.mit.edu	37	chr6	88144700	88144700	+	Frame_Shift_Del	DEL	A	A	-																															acatagttagagaaaaggccAaaaaaaatacagagttaatt																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr6:88144700delA	ENST00000507897.1	+	11	1506	c.1423delA	c.(1423-1425)aaafs	p.K476fs	C6ORF165_ENST00000369562.4_Frame_Shift_Del_p.K476fs			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	476										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		AGAAAAGGCCAAAAAAAATAC	0.269													-	88144700	A	-	88144700	7	5	533	1	0	1	0	1	0	0	0	0	2363	131	5	0	1461	0	C6orf165	6	88144700	Frame_Shift_Del	DEL	A	TCGA-HT-7605-01A-11D-2086-08		88144700	82970367	20	47036											
RALA	5898	broad.mit.edu	37	chr7	39726381	39726381	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacagttcatgtacgatgagGtaagtgctaattttataatg	13	15	9	4	1	1	1	1	1	0	0	1	2	1	1	0	1	3	4	0	1	6	8			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:39726381G>T	ENST00000005257.2	+	2	494		c.e2+1		RALA_ENST00000468201.1_Intron	NM_005402.3	NP_005393.2	P11233	RALA_HUMAN	v-ral simian leukemia viral oncogene homolog A (ras related)						actin cytoskeleton reorganization|cell cycle|chemotaxis|cytokinesis|exocytosis|interspecies interaction between organisms|membrane raft localization|nerve growth factor receptor signaling pathway|positive regulation of filopodium assembly|Ras protein signal transduction|regulation of exocytosis	cell surface|cleavage furrow|cytosol|midbody|plasma membrane	Edg-2 lysophosphatidic acid receptor binding|GTP binding|GTPase activity			NS(1)|central_nervous_system(1)|large_intestine(2)|lung(9)|skin(3)	16						GTACGATGAGGTAAGTGCTAA	0.418													T	39726381	G	T	39726381	5	4	533	1	0	0	0	0	0	0	1	0	13098	1275	44	4	117	4	RALA	7	39726381	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08		39726381	119412282	21	47037											
MUC17	140453	broad.mit.edu	37	chr7	100685718	100685718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacttctacccaagtcagttCatctcctgtgactcctgaag	9	12	6	14	0	4	2	2	2	2	0	6	2	5	2	3	0	1	1	3	0	3	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:100685718C>T	ENST00000306151.4	+	3	11085	c.11021C>T	c.(11020-11022)tCa>tTa	p.S3674L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3674	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)					CAAGTCAGTTCATCTCCTGTG	0.522													T	100685718	C	T	100685718	3	4	533	1	0	0	0	0	1	0	0	0	10050	838	29	2	11031	2	MUC17	7	100685718	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	60959337	100685718	58452945	22	47038											
GIMAP5	55340	broad.mit.edu	37	chr7	150439641	150439641	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggtgaaagaggtcttTgggacaggggccatgagaca	13	6	17	5	0	1	3	0	2	1	2	1	6	1	5	1	6	0	0	1	6	2	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr7:150439641T>C	ENST00000358647.3	+	3	781	c.414T>C	c.(412-414)ttT>ttC	p.F138F	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2			GTPase, IMAP family member 5											central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AAGAGGTCTTTGGGACAGGGG	0.582													C	150439641	T	C	150439641	2	2	533	1	0	0	0	0	0	0	0	1	6438	1809	63	3		3	GIMAP5	7	150439641	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	49753923	150439641	8699022	23	47039											
PIWIL2	55124	broad.mit.edu	37	chr8	22146091	22146091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaaaggaaaacagacagtGctgaaatcagcattaagatt	18	8	9	6	0	2	3	2	1	0	2	2	4	2	4	0	1	3	2	0	1	5	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:22146091G>A	ENST00000356766.6	+	8	1046	c.898G>A	c.(898-900)Gct>Act	p.A300T	PIWIL2_ENST00000521356.1_Missense_Mutation_p.A300T|PIWIL2_ENST00000454009.2_Missense_Mutation_p.A300T	NM_018068.3	NP_060538.2	Q8TC59	PIWL2_HUMAN	piwi-like RNA-mediated gene silencing 2	300					DNA methylation involved in gamete generation|gene silencing by RNA|germ-line stem cell maintenance|multicellular organismal development|oogenesis|piRNA metabolic process|positive regulation of translation|RNA 5'-end processing|spermatogenesis	chromatoid body|pi-body	piRNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(14)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	46				Colorectal(74;0.018)|COAD - Colon adenocarcinoma(73;0.0707)		AACAGACAGTGCTGAAATCAG	0.383													A	22146091	G	A	22146091	3	1	533	1	0	0	0	0	1	0	0	0	12035	1319	46	2	924	2	PIWIL2	8	22146091	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		22146091	124217931	24	47040											
KCNU1	157855	broad.mit.edu	37	chr8	36642081	36642081	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggctgatctggagatcTgttaaaaaatggcaaatcat	14	12	9	6	0	4	2	2	1	2	1	4	3	4	2	0	3	0	3	0	3	4	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:36642081T>C	ENST00000399881.3	+	1	190	c.153T>C	c.(151-153)tcT>tcC	p.S51S		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	51						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		TCTGGAGATCTGTTAAAAAAT	0.438													C	36642081	T	C	36642081	2	2	533	1	0	0	0	0	0	0	0	1	8151	1567	55	3		3	KCNU1	8	36642081	Silent	SNP	T	TCGA-HT-7605-01A-11D-2086-08	14495990	36642081	109721941	25	47041											
PXDNL	137902	broad.mit.edu	37	chr8	52321594	52321594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacacgcggggctggagcGcgcgaagagcatgcagggcg	8	2	20	11	6	0	1	0	0	0	1	0	3	0	2	0	5	3	4	0	5	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:52321594G>A	ENST00000356297.4	-	17	2690	c.2590C>T	c.(2590-2592)Cgc>Tgc	p.R864C	PXDNL_ENST00000543296.1_Missense_Mutation_p.R864C	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	864					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity	p.R864C(1)|p.R63C(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				GGGCTGGAGCGCGCGAAGAGC	0.662													A	52321594	G	A	52321594	3	1	533	1	0	0	0	0	1	0	0	0	12936	1087	38	1	1829	1	PXDNL	8	52321594	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	15679513	52321594	94042428	26	47042											
CHD7	55636	broad.mit.edu	37	chr8	61735226	61735226	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgaacctggacagagtTgaacgtggttgtgtatcatg	10	12	12	7	2	1	2	1	1	0	1	2	4	2	3	2	2	2	3	2	2	3	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:61735226T>G	ENST00000423902.2	+	12	3601	c.3122T>G	c.(3121-3123)tTg>tGg	p.L1041W	CHD7_ENST00000525508.1_Missense_Mutation_p.L1041W|CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1041	Helicase ATP-binding.				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			TGGACAGAGTTGAACGTGGTT	0.433													G	61735226	T	G	61735226	3	3	533	1	0	0	0	0	1	0	0	0	3360	1821	63	5	3164	5	CHD7	8	61735226	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	9413632	61735226	84628796	27	47043											
ASAP1	50807	broad.mit.edu	37	chr8	131370312	131370312	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgtgcagccgcgtggtgAagctggacgtggtgggcgag	6	8	20	7	4	0	1	0	1	0	0	0	3	0	2	1	4	3	3	1	4	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr8:131370312A>C	ENST00000357668.1	-	2	164	c.137T>G	c.(136-138)tTc>tGc	p.F46C	ASAP1_ENST00000518721.1_Missense_Mutation_p.F46C			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	46					cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						CCGCGTGGTGAAGCTGGACGT	0.677													C	131370312	A	C	131370312	3	2	533	1	0	0	0	0	1	0	0	0	1015	246	9	5	3364	5	ASAP1	8	131370312	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	69635086	131370312	14993710	28	47044											
NOL6	65083	broad.mit.edu	37	chr9	33467861	33467861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggcgactcagtggaCggagactggaggggtacaaa	11	5	16	9	2	1	1	1	0	0	1	1	5	1	3	1	6	2	2	1	6	2	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:33467861C>T	ENST00000379471.2	-	12	1517	c.1430G>A	c.(1429-1431)cGt>cAt	p.R477H	NOL6_ENST00000455041.2_Missense_Mutation_p.R425H|NOL6_ENST00000464829.1_Intron			Q9H6R4	NOL6_HUMAN	nucleolar protein 6 (RNA-associated)	477					rRNA processing	condensed nuclear chromosome|nucleolus	RNA binding			endometrium(4)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|skin(2)	27			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.152)		ACTCAGTGGACGGAGACTGGA	0.602													T	33467861	C	T	33467861	3	4	533	1	0	0	0	0	1	0	0	0	10601	536	19	1	2070	1	NOL6	9	33467861	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		33467861	107745570	29	47045											
CORO2A	7464	broad.mit.edu	37	chr9	100897226	100897226	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagctgcttggggatgctCcagatcttaatctggcaggg	8	10	14	9	0	2	1	0	0	2	1	3	2	3	2	1	4	4	5	1	4	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:100897226C>A	ENST00000343933.5	-	4	587	c.330G>T	c.(328-330)tgG>tgT	p.W110C	CORO2A_ENST00000375077.4_Missense_Mutation_p.W110C	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	110					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				TGGGGATGCTCCAGATCTTAA	0.632													A	100897226	C	A	100897226	3	1	533	1	0	0	0	0	1	0	0	0	3787	856	30	4	1283	4	CORO2A	9	100897226	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	67429365	100897226	40316205	30	47046											
LAMC3	10319	broad.mit.edu	37	chr9	133917071	133917071	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggacacctgtgacccccGcagtgggcgctgcccctgca	5	6	12	18	2	0	1	0	1	0	0	0	2	0	2	6	2	2	3	6	2	0	0	rs143849259		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr9:133917071G>T	ENST00000361069.4	+	7	1464	c.1331G>T	c.(1330-1332)cGc>cTc	p.R444L	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	444	Laminin EGF-like 4.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		TGTGACCCCCGCAGTGGGCGC	0.547													T	133917071	G	T	133917071	3	4	533	1	0	0	0	0	1	0	0	0	8675	1087	38	4	1357	4	LAMC3	9	133917071	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	33019845	133917071	7296360	31	47047											
POLL	27343	broad.mit.edu	37	chr10	103343337	103343337	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagagctccaagacaggcacGctctcactgatatggtccag	12	7	10	12	1	1	3	1	1	1	2	4	3	3	3	2	2	1	3	2	2	3	1	rs148400497	byFrequency	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr10:103343337G>A	ENST00000370162.3	-	6	1487	c.993C>T	c.(991-993)agC>agT	p.S331S	POLL_ENST00000370158.3_Silent_p.S56S|POLL_ENST00000436284.2_3'UTR|DPCD_ENST00000416979.2_Intron|POLL_ENST00000370172.1_Silent_p.S243S|POLL_ENST00000339310.3_Silent_p.S54S|POLL_ENST00000299206.4_Silent_p.S331S|DPCD_ENST00000470165.1_Intron|POLL_ENST00000456836.2_Silent_p.S68S|POLL_ENST00000370169.1_Silent_p.S331S	NM_001174084.1|NM_001174085.1|NM_013274.3	NP_001167555.1|NP_001167556.1|NP_037406.1	Q9UGP5	DPOLL_HUMAN	polymerase (DNA directed), lambda	331					DNA replication|nucleotide-excision repair|somatic hypermutation of immunoglobulin genes	nucleus	DNA binding|DNA-directed DNA polymerase activity|lyase activity|metal ion binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.234)		Epithelial(162;1.55e-08)|all cancers(201;6.64e-07)		AGACAGGCACGCTCTCACTGA	0.562								DNA polymerases (catalytic subunits)					A	103343337	G	A	103343337	2	1	533	1	0	0	0	0	0	0	0	1	12282	1078	38	1		1	POLL	10	103343337	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08		103343337	32191410	32	47048											
RIC3	79608	broad.mit.edu	37	chr11	8148216	8148216	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtttaccttcccagtcCtccatgtaaggggcctcctc	6	12	7	16	0	0	0	0	0	0	0	5	0	4	0	6	2	1	2	6	2	2	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:8148216C>A	ENST00000396677.2	-	2	173	c.174G>T	c.(172-174)gaG>gaT	p.E58D	RIC3_ENST00000309737.6_Missense_Mutation_p.E220D|RIC3_ENST00000335425.7_Intron|RIC3_ENST00000425599.2_Intron|RIC3_ENST00000343202.4_Missense_Mutation_p.E219D|RIC3_ENST00000530060.1_5'UTR|RIC3_ENST00000539720.1_Missense_Mutation_p.E171D			Q7Z5B4	RIC3_HUMAN	RIC3 acetylcholine receptor chaperone	220						endoplasmic reticulum membrane|Golgi membrane|integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)	17				Epithelial(150;2.89e-07)|BRCA - Breast invasive adenocarcinoma(625;0.204)		CTTCCCAGTCCTCCATGTAAG	0.403													A	8148216	C	A	8148216	3	1	533	1	0	0	0	0	1	0	0	0	13443	680	24	4	457	4	RIC3	11	8148216	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8148216	126858300	33	47049											
FAT3	120114	broad.mit.edu	37	chr11	92523169	92523169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattctctcagccgaattacGatgtgacaatttccgaggat	12	12	8	9	3	2	1	1	1	1	0	4	5	3	2	2	1	2	0	2	1	4	3	rs141835444	by1000genomes	TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:92523169G>A	ENST00000298047.6	+	7	4413	c.4396G>A	c.(4396-4398)Gat>Aat	p.D1466N	FAT3_ENST00000409404.2_Missense_Mutation_p.D1466N|FAT3_ENST00000525166.1_Missense_Mutation_p.D1316N			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1466	Cadherin 14.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCCGAATTACGATGTGACAAT	0.408										TCGA Ovarian(4;0.039)			A	92523169	G	A	92523169	3	1	533	1	0	0	0	0	1	0	0	0	5740	1058	37	1	4422	1	FAT3	11	92523169	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	84374953	92523169	42483347	34	47050											
VWA5A	4013	broad.mit.edu	37	chr11	123989697	123989697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggtttccctggctgctGgacacaagtttgatcgggac	7	11	12	11	1	1	1	1	1	0	0	3	3	2	3	1	4	1	4	1	4	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr11:123989697G>A	ENST00000456829.2	+	7	912	c.661G>A	c.(661-663)Gga>Aga	p.G221R	VWA5A_ENST00000392744.4_Missense_Mutation_p.G237R|VWA5A_ENST00000392748.1_Missense_Mutation_p.G221R|VWA5A_ENST00000361352.5_Missense_Mutation_p.G221R|VWA5A_ENST00000360334.4_Missense_Mutation_p.G221R|VWA5A_ENST00000449321.1_Missense_Mutation_p.G221R	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	221										autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						CCTGGCTGCTGGACACAAGTT	0.522													A	123989697	G	A	123989697	3	1	533	1	0	0	0	0	1	0	0	0	17344	1349	47	2	679	2	VWA5A	11	123989697	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	31466528	123989697	11016819	35	47051											
GPR162	27239	broad.mit.edu	37	chr12	6933475	6933475	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaggcactgcatgcCgtcatgggcatctggatggt	10	8	14	9	1	2	1	1	0	1	1	2	2	2	2	1	4	3	4	1	4	2	0	rs146153056		TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:6933475C>T	ENST00000311268.3	+	2	1198	c.411C>T	c.(409-411)gcC>gcT	p.A137A	GPR162_ENST00000428545.2_Intron|GPR162_ENST00000541431.1_3'UTR|GPR162_ENST00000382315.3_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	137						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						CACTGCATGCCGTCATGGGCA	0.617													T	6933475	C	T	6933475	2	4	533	1	0	0	0	0	0	0	0	1	6720	639	23	1		1	GPR162	12	6933475	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		6933475	126918420	36	47052											
ATN1	1822	broad.mit.edu	37	chr12	7048208	7048208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcagctgagaggcagcacGcagaaagggtggcggccctg	9	4	18	10	2	0	2	0	1	0	2	0	3	0	2	1	5	2	5	1	5	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr12:7048208G>A	ENST00000356654.4	+	7	3319	c.3082G>A	c.(3082-3084)Gca>Aca	p.A1028T	ATN1_ENST00000396684.2_Missense_Mutation_p.A1028T	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1028					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	p.A1028S(1)		breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GAGGCAGCACGCAGAAAGGGT	0.662													A	7048208	G	A	7048208	3	1	533	1	0	0	0	0	1	0	0	0	1116	1087	38	1	3104	1	ATN1	12	7048208	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	114733	7048208	126803687	37	47053											
FREM2	341640	broad.mit.edu	37	chr13	39265629	39265629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaacttaattcagtatgTccatttggggcaagagggca	13	10	11	7	0	1	2	1	0	0	2	2	2	2	2	1	3	1	3	1	3	4	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:39265629T>C	ENST00000280481.7	+	1	4364	c.4148T>C	c.(4147-4149)gTc>gCc	p.V1383A		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	1383					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		ATTCAGTATGTCCATTTGGGG	0.413													C	39265629	T	C	39265629	3	2	533	1	0	0	0	0	1	0	0	0	6097	1667	58	3	4150	3	FREM2	13	39265629	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08		39265629	75904249	38	47054											
TBC1D4	9882	broad.mit.edu	37	chr13	75861015	75861015	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattgactagagcatccgcGggcagcagcttccggagttg	9	8	13	11	3	0	2	0	1	0	1	2	3	2	3	2	2	3	5	2	2	2	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr13:75861015G>A	ENST00000377636.3	-	21	4156	c.3810C>T	c.(3808-3810)ccC>ccT	p.P1270P	TBC1D4_ENST00000431480.2_Silent_p.P1262P|TBC1D4_ENST00000425511.1_Silent_p.P434P|TBC1D4_ENST00000377625.2_Silent_p.P1207P	NM_014832.2	NP_055647.2	O60343	TBCD4_HUMAN	TBC1 domain family, member 4	1270						cytoplasm	Rab GTPase activator activity	p.P1270P(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(12)|lung(18)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Prostate(6;0.014)|Breast(118;0.0982)		GBM - Glioblastoma multiforme(99;0.0116)		GAGCATCCGCGGGCAGCAGCT	0.453													A	75861015	G	A	75861015	2	1	533	1	0	0	0	0	0	0	0	1	15722	1103	39	1		1	TBC1D4	13	75861015	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	36595386	75861015	39308863	39	47055											
RFX7	64864	broad.mit.edu	37	chr15	56387426	56387426	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtatctggctatgtagctGctggctatatgtgtcctgtg	5	16	12	8	0	1	0	0	0	1	0	2	0	2	0	1	2	2	6	1	2	5	5			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:56387426G>A	ENST00000423270.1	-	9	2499	c.2500C>T	c.(2500-2502)Cag>Tag	p.Q834*	RFX7_ENST00000317318.6_Nonsense_Mutation_p.Q834*|RFX7_ENST00000559447.2_Nonsense_Mutation_p.Q737*|RFX7_ENST00000422057.1_Nonsense_Mutation_p.Q737*	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	737					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTATGTAGCTGCTGGCTATAT	0.393													A	56387426	G	A	56387426	4	1	533	1	0	0	0	0	0	1	0	0	13356	1328	46	2	1886	2	RFX7	15	56387426	Nonsense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		56387426	46143966	40	47056											
EFTUD1	79631	broad.mit.edu	37	chr15	82554109	82554109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatcatcttatccaaactgTtgagcaccatgattacttat	13	14	5	9	0	2	2	1	2	1	0	3	3	3	2	2	0	3	2	2	0	5	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr15:82554109T>C	ENST00000268206.7	-	2	179	c.11A>G	c.(10-12)aAc>aGc	p.N4S	EFTUD1_ENST00000359445.3_Missense_Mutation_p.N4S	NM_024580.5	NP_078856.4	Q7Z2Z2	ETUD1_HUMAN	elongation factor Tu GTP binding domain containing 1	4					mature ribosome assembly		GTP binding|GTPase activity|ribosome binding|translation elongation factor activity			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAAACTGTTGAGCACCAT	0.333													C	82554109	T	C	82554109	3	2	533	1	0	0	0	0	1	0	0	0	4999	1725	60	3	3427	3	EFTUD1	15	82554109	Missense_Mutation	SNP	T	TCGA-HT-7605-01A-11D-2086-08	26166683	82554109	19977283	41	47057											
ACSM2A	123876	broad.mit.edu	37	chr16	20471589	20471589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactttgctagtgatgtgttGgatcactgggctgacatgga	9	13	13	6	0	1	2	1	2	0	0	1	4	1	4	0	3	2	3	0	3	2	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:20471589G>T	ENST00000573854.1	+	2	267	c.153G>T	c.(151-153)ttG>ttT	p.L51F	ACSM2A_ENST00000424070.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000219054.6_Missense_Mutation_p.L51F|ACSM2A_ENST00000575690.1_Missense_Mutation_p.L51F|ACSM2A_ENST00000396104.2_Missense_Mutation_p.L51F|ACSM2A_ENST00000417235.2_Intron|ACSM2A_ENST00000575558.1_Intron|ACSM2A_ENST00000536134.1_5'UTR	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	51					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						GTGATGTGTTGGATCACTGGG	0.453													T	20471589	G	T	20471589	3	4	533	1	0	0	0	0	1	0	0	0	183	1339	47	4	155	4	ACSM2A	16	20471589	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		20471589	69883164	42	47058											
ZNF764	92595	broad.mit.edu	37	chr16	30566916	30566916	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtgcacgcgccggtgctGgtagagggcagagctctggc	5	7	18	11	3	1	2	0	0	1	2	1	2	1	2	1	4	3	6	1	4	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr16:30566916G>T	ENST00000395091.2	-	3	1138	c.823C>A	c.(823-825)Cag>Aag	p.Q275K	ZNF764_ENST00000252797.2_Missense_Mutation_p.Q276K|AC002310.13_ENST00000568114.1_Intron			Q96H86	ZN764_HUMAN	zinc finger protein 764	276					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7						CGCCGGTGCTGGTAGAGGGCA	0.726													T	30566916	G	T	30566916	3	4	533	1	0	0	0	0	1	0	0	0	18238	1357	47	4	404	4	ZNF764	16	30566916	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08	10095327	30566916	59787837	43	47059											
CLDN7	1366	broad.mit.edu	37	chr17	7163696	7163696	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaaggagatcccaggtcaCacatactccttggaagagtt	12	8	11	10	0	1	2	1	0	0	2	3	4	3	3	2	4	1	2	2	4	3	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7163696C>T	ENST00000360325.7	-	4	1067	c.633G>A	c.(631-633)gtG>gtA	p.V211V	RP1-4G17.5_ENST00000577138.1_Intron|CLDN7_ENST00000397317.4_Silent_p.V211V|CLDN7_ENST00000538261.3_3'UTR	NM_001307.5	NP_001298.3	O95471	CLD7_HUMAN	claudin 7	211	Interactions with TJP1, TJP2 and TJP3 (By similarity).				calcium-independent cell-cell adhesion	integral to membrane|lateral plasma membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	6						TCCCAGGTCACACATACTCCT	0.597													T	7163696	C	T	7163696	2	4	533	1	0	0	0	0	0	0	0	1	3521	465	17	2		2	CLDN7	17	7163696	Silent	SNP	C	TCGA-HT-7605-01A-11D-2086-08		7163696	74031514	44	47060											
DNAH2	146754	broad.mit.edu	37	chr17	7708392	7708392	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gccctggaagaggccatgcgGgtaccaggggcgggtgcaag	8	4	19	10	2	0	1	0	0	0	1	0	2	0	2	3	6	3	2	3	6	3	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7708392G>A	ENST00000572933.1	+	60	10760	c.9300G>A	c.(9298-9300)cgG>cgA	p.R3100R	DNAH2_ENST00000389173.2_Splice_Site_p.R3100R			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3100	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				AGGCCATGCGGGTACCAGGGG	0.582													A	7708392	G	A	7708392	5	1	533	1	0	0	0	0	0	0	1	0	4641	1246	43	2	9534	2	DNAH2	17	7708392	Splice_Site	SNP	G	TCGA-HT-7605-01A-11D-2086-08	544696	7708392	73486818	45	47061											
KDM6B	23135	broad.mit.edu	37	chr17	7752905	7752905	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcacttagtgaggggccccCcaaggagctgaagatccggc	9	6	13	13	1	1	3	1	2	0	1	2	4	2	4	4	4	1	1	4	4	3	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:7752905C>A	ENST00000254846.5	+	11	3688	c.3299C>A	c.(3298-3300)cCc>cAc	p.P1100H	KDM6B_ENST00000448097.2_Missense_Mutation_p.P1100H	NM_001080424.1	NP_001073893.1	O15054	KDM6B_HUMAN	lysine (K)-specific demethylase 6B	1100					inflammatory response	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|skin(5)	37						GAGGGGCCCCCCAAGGAGCTG	0.632													A	7752905	C	A	7752905	3	1	533	1	0	0	0	0	1	0	0	0	8196	623	22	4	3329	4	KDM6B	17	7752905	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	44513	7752905	73442305	46	47062											
MYH8	4626	broad.mit.edu	37	chr17	10303716	10303716	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtattgggtaccttggctttGgaaatggcctctgcgttact	6	15	12	8	1	1	0	0	0	1	0	1	1	1	1	2	4	3	4	2	4	4	6			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:10303716G>A	ENST00000403437.2	-	27	3820	c.3726C>T	c.(3724-3726)tcC>tcT	p.S1242S	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1242					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCTTGGCTTTGGAAATGGCCT	0.438									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10303716	G	A	10303716	2	1	533	1	0	0	0	0	0	0	0	1	10117	1335	47	2		2	MYH8	17	10303716	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	2550811	10303716	70891494	47	47063											
TBC1D28	254272	broad.mit.edu	37	chr17	18539791	18539791	+	Frame_Shift_Del	DEL	C	C	-																															attttcaagaagttgcaacaCccccgagagacacccatgcc																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:18539791delC	ENST00000345096.4	-	9	1316	c.617delG	c.(616-618)ggtfs	p.G206fs	TBC1D28_ENST00000405044.1_Frame_Shift_Del_p.G206fs			Q2M2D7	TBC28_HUMAN	TBC1 domain family, member 28	206	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			breast(1)|large_intestine(5)|lung(2)|ovary(1)	9						AGTTGCAACACCCCCGAGAGA	0.532													-	18539791	C	-	18539791	7	5	533	1	0	1	0	1	0	0	0	0	15714	507	18	0	19	0	TBC1D28	17	18539791	Frame_Shift_Del	DEL	C	TCGA-HT-7605-01A-11D-2086-08	8236075	18539791	62655419	48	47064											
SLC25A39	51629	broad.mit.edu	37	chr17	42399117	42399117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgccctcgtgcctcaCgatcttcacgaaggcatcct	6	10	9	16	3	3	0	2	0	1	0	5	2	4	0	4	2	2	1	4	2	1	1			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:42399117C>T	ENST00000225308.8	-	6	493	c.319G>A	c.(319-321)Gtg>Atg	p.V107M	SLC25A39_ENST00000586016.1_De_novo_Start_InFrame|SLC25A39_ENST00000537904.2_Missense_Mutation_p.V92M|SLC25A39_ENST00000377095.5_Missense_Mutation_p.V115M|SLC25A39_ENST00000590194.1_Missense_Mutation_p.V107M	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	115					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TCGTGCCTCACGATCTTCACG	0.637													T	42399117	C	T	42399117	3	4	533	1	0	0	0	0	1	0	0	0	14597	536	19	1	764	1	SLC25A39	17	42399117	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	23859326	42399117	38796093	49	47065											
CACNA1G	8913	broad.mit.edu	37	chr17	48652951	48652951	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcctggtggtgattgccacGcagttctcagagaccaagca	9	9	12	11	1	1	2	1	1	1	1	2	3	1	2	3	2	3	3	3	2	1	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr17:48652951G>A	ENST00000352832.5	+	8	1560	c.1188G>A	c.(1186-1188)acG>acA	p.T396T	CACNA1G_ENST00000513964.1_Silent_p.T396T|CACNA1G_ENST00000510115.1_Silent_p.T396T|CACNA1G_ENST00000505165.1_Silent_p.T396T|CACNA1G_ENST00000358244.5_Silent_p.T396T|CACNA1G_ENST00000429973.2_Silent_p.T396T|CACNA1G_ENST00000514717.1_Silent_p.T396T|CACNA1G_ENST00000502264.1_Silent_p.T396T|CACNA1G_ENST00000512389.1_Silent_p.T396T|CACNA1G_ENST00000515765.1_Silent_p.T396T|CACNA1G_ENST00000360761.4_Silent_p.T396T|CACNA1G_ENST00000503485.1_Silent_p.T396T|CACNA1G_ENST00000507510.2_Silent_p.T396T|CACNA1G_ENST00000515165.1_Silent_p.T396T|CACNA1G_ENST00000507896.1_Silent_p.T396T|CACNA1G_ENST00000416767.4_Silent_p.T396T|CACNA1G_ENST00000514181.1_Silent_p.T396T|CACNA1G_ENST00000359106.5_Silent_p.T396T|CACNA1G_ENST00000514079.1_Silent_p.T396T|CACNA1G_ENST00000510366.1_Silent_p.T396T|CACNA1G_ENST00000507609.1_Silent_p.T396T|CACNA1G_ENST00000354983.4_Silent_p.T396T|CACNA1G_ENST00000513689.2_Silent_p.T396T|CACNA1G_ENST00000507336.1_Silent_p.T396T|CACNA1G_ENST00000515411.1_Silent_p.T396T|CACNA1G_ENST00000442258.2_Silent_p.T396T	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	396					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGATTGCCACGCAGTTCTCAG	0.572													A	48652951	G	A	48652951	2	1	533	1	0	0	0	0	0	0	0	1	2570	1074	38	1		1	CACNA1G	17	48652951	Silent	SNP	G	TCGA-HT-7605-01A-11D-2086-08	6253834	48652951	32542259	50	47066											
KANK3	256949	broad.mit.edu	37	chr19	8398111	8398111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgggccacgaggcgcactgCgccctgcaagggacaggggc	7	3	17	14	3	0	0	0	0	0	0	0	2	0	1	2	5	2	2	2	5	1	0			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:8398111C>T	ENST00000330915.3	-	7	1788	c.1723G>A	c.(1723-1725)Gca>Aca	p.A575T	KANK3_ENST00000593649.1_Missense_Mutation_p.A575T	NM_198471.2	NP_940873.2	Q6NY19	KANK3_HUMAN	KN motif and ankyrin repeat domains 3	575										breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)|urinary_tract(1)	9						AGGCGCACTGCGCCCTGCAAG	0.697													T	8398111	C	T	8398111	3	4	533	1	0	0	0	0	1	0	0	0	8036	768	27	1	762	1	KANK3	19	8398111	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08		8398111	50730872	51	47067											
NFIX	4784	broad.mit.edu	37	chr19	13192587	13192589	+	In_Frame_Del	DEL	ACC	ACC	-																															cacgcacccgaccatccgctAccaccaccaccacgggcagg																										TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:13192587_13192589delACC	ENST00000358552.3	+	6	1046_1048	c.1046_1048delACC	c.(1045-1050)taccac>tac	p.H353del	NFIX_ENST00000397661.2_In_Frame_Del_p.H395del|NFIX_ENST00000592199.1_In_Frame_Del_p.H395del|NFIX_ENST00000360105.4_In_Frame_Del_p.H357del|NFIX_ENST00000585575.1_In_Frame_Del_p.H387del|NFIX_ENST00000588228.1_In_Frame_Del_p.H348del|NFIX_ENST00000587760.1_In_Frame_Del_p.H387del|NFIX_ENST00000587260.1_In_Frame_Del_p.H394del			Q14938	NFIX_HUMAN	nuclear factor I/X (CCAAT-binding transcription factor)	395					DNA replication|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|skin(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(19;8.2e-22)			ACCATCCGCTACCACCACCACCA	0.645											OREG0025286	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	13192589	ACC	-	13192587	7	5	533	1	0	1	0	1	0	0	0	0	10450	391	14	0	1202	0	NFIX	19	13192587	In_Frame_Del	DEL	ACC	TCGA-HT-7605-01A-11D-2086-08	4794476	13192587	45936396	52	47068											
HAS1	3036	broad.mit.edu	37	chr19	52220383	52220383	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcccctacccgggggtcctCgtccagtacccgcacgagct	6	6	11	18	4	0	0	0	0	0	0	3	1	2	0	6	2	4	3	6	2	2	2			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chr19:52220383C>T	ENST00000540069.2	-	3	823	c.763G>A	c.(763-765)Gag>Aag	p.E255K	HAS1_ENST00000601714.1_Missense_Mutation_p.E263K|HAS1_ENST00000594621.1_Missense_Mutation_p.E110K|HAS1_ENST00000222115.1_Missense_Mutation_p.E256K			Q92839	HAS1_HUMAN	hyaluronan synthase 1	256					cell adhesion	integral to plasma membrane	hyaluronan synthase activity|protein binding			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	40		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00102)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		CGGGGGTCCTCGTCCAGTACC	0.622													T	52220383	C	T	52220383	3	4	533	1	0	0	0	0	1	0	0	0	7016	893	31	1	982	1	HAS1	19	52220383	Missense_Mutation	SNP	C	TCGA-HT-7605-01A-11D-2086-08	39027796	52220383	6908600	53	47069											
TAF1	6872	broad.mit.edu	37	chrX	70626502	70626502	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttagtgcggatgaggttcGcagaaaatctctggttctca	9	14	11	7	2	2	2	1	1	2	1	5	3	2	3	0	3	1	3	0	3	3	4			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:70626502G>T	ENST00000449580.1	+	26	4061	c.4010G>T	c.(4009-4011)cGc>cTc	p.R1337L	TAF1_ENST00000423759.1_Missense_Mutation_p.R1358L|TAF1_ENST00000276072.3_Missense_Mutation_p.R1358L|TAF1_ENST00000373790.4_Missense_Mutation_p.R1337L			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1337					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGAGGTTCGCAGAAAATCT	0.398													T	70626502	G	T	70626502	3	4	533	1	0	0	0	0	1	0	0	0	15610	1087	38	4	4175	4	TAF1	23	70626502	Missense_Mutation	SNP	G	TCGA-HT-7605-01A-11D-2086-08		70626502	84644058	54	47070											
FMR1NB	158521	broad.mit.edu	37	chrX	147106438	147106438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagagttgtaacgggtttgaAgaaacaaagaaggaagcgaa	18	6	13	4	2	0	4	0	1	0	3	0	6	0	5	0	2	3	3	0	2	7	3			TCGA-HT-7605-01A-11D-2086-08	TCGA-HT-7605-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	19d69d6e-e741-4df9-ba72-c14e5111f81f	b42925b4-0c56-428a-aca8-cbefe4d9dcaf	g.chrX:147106438A>G	ENST00000370467.3	+	5	760	c.686A>G	c.(685-687)aAg>aGg	p.K229R		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	229						integral to membrane				breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ACGGGTTTGAAGAAACAAAGA	0.413													G	147106438	A	G	147106438	3	3	533	1	0	0	0	0	1	0	0	0	6010	72	3	3	704	3	FMR1NB	23	147106438	Missense_Mutation	SNP	A	TCGA-HT-7605-01A-11D-2086-08	76479936	147106438	8164122	55	47071											
FGR	2268	broad.mit.edu	37	chr1	27943402	27943402	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accagctcctgcaccgagttGaactgaacccgtgtggtgat	9	9	11	12	2	0	3	0	3	0	0	1	4	1	3	4	1	4	3	4	1	2	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:27943402G>A	ENST00000374005.3	-	7	936	c.648C>T	c.(646-648)ttC>ttT	p.F216F	FGR_ENST00000545953.1_Silent_p.F150F|FGR_ENST00000399173.1_Silent_p.F216F|FGR_ENST00000374004.1_Silent_p.F216F	NM_005248.2	NP_005239.1	P09769	FGR_HUMAN	feline Gardner-Rasheed sarcoma viral oncogene homolog	216	SH2.				platelet activation|response to virus	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(4)	16		all_lung(284;2.05e-05)|Colorectal(325;3.46e-05)|Lung NSC(340;3.67e-05)|Renal(390;0.00121)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.25e-24)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00244)|KIRC - Kidney renal clear cell carcinoma(1967;0.0027)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCACCGAGTTGAACTGAACCC	0.562													A	27943402	G	A	27943402	2	1	534	1	0	0	0	0	0	0	0	1	5923	1281	45	2		2	FGR	1	27943402	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		27943402	221307219	1	47072											
ZSCAN20	7579	broad.mit.edu	37	chr1	33960425	33960425	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccagtgtagtgagccTgggggaaactttgcccaaag	10	8	13	10	0	0	2	0	2	0	0	0	3	0	3	4	2	3	1	4	2	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:33960425T>G	ENST00000361328.3	+	8	2634	c.2481T>G	c.(2479-2481)ccT>ccG	p.P827P		NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	827					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GTAGTGAGCCTGGGGGAAACT	0.448													G	33960425	T	G	33960425	2	3	534	1	0	0	0	0	0	0	0	1	18330	1567	55	5		5	ZSCAN20	1	33960425	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08	6017023	33960425	215290196	2	47073											
LRRC8D	55144	broad.mit.edu	37	chr1	90400076	90400076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgctgtcgggggtgccCgatgctgtctttgacctcac	4	13	12	12	2	3	1	2	1	1	0	4	2	3	1	2	2	3	2	2	2	0	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:90400076C>T	ENST00000337338.5	+	3	1856	c.1449C>T	c.(1447-1449)ccC>ccT	p.P483P	LRRC8D_ENST00000394593.3_Silent_p.P483P	NM_001134479.1	NP_001127951.1	Q7L1W4	LRC8D_HUMAN	leucine rich repeat containing 8 family, member D	483						integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(2)|skin(1)	29		all_lung(203;0.0894)|Lung NSC(277;0.227)		all cancers(265;0.0109)|Epithelial(280;0.0427)		CGGGGGTGCCCGATGCTGTCT	0.468													T	90400076	C	T	90400076	2	4	534	1	0	0	0	0	0	0	0	1	9094	639	23	1		1	LRRC8D	1	90400076	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	56439651	90400076	158850545	3	47074											
CFHR5	81494	broad.mit.edu	37	chr1	196953247	196953247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacggggctggtccactcCtcccatatgcagcttcacta	9	9	9	14	1	1	1	1	0	0	1	4	1	4	1	3	3	3	3	3	3	3	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:196953247C>T	ENST00000367414.5	+	3	538	c.482C>T	c.(481-483)cCt>cTt	p.P161L	CFHR5_ENST00000256785.4_Missense_Mutation_p.P137L	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	137	Sushi 3.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						TGGTCCACTCCTCCCATATGC	0.348													T	196953247	C	T	196953247	3	4	534	1	0	0	0	0	1	0	0	0	3318	681	24	2	420	2	CFHR5	1	196953247	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	106553171	196953247	52297374	4	47075											
ASPM	259266	broad.mit.edu	37	chr1	197091601	197091601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataccactgaaccagtttgcGtacattccacagtttgagta	12	12	7	10	1	0	2	0	2	0	0	1	2	1	2	3	0	4	4	3	0	4	6			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr1:197091601G>A	ENST00000367409.4	-	14	3771	c.3515C>T	c.(3514-3516)aCg>aTg	p.T1172M	ASPM_ENST00000294732.7_Missense_Mutation_p.T1172M|ASPM_ENST00000367408.1_Missense_Mutation_p.T422M	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1172	CH 2.				mitosis	cytoplasm|nucleus	calmodulin binding	p.T1172M(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ACCAGTTTGCGTACATTCCAC	0.413													A	197091601	G	A	197091601	3	1	534	1	0	0	0	0	1	0	0	0	1061	1145	40	1	6978	1	ASPM	1	197091601	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	138354	197091601	52159020	5	47076											
C2orf16	84226	broad.mit.edu	37	chr2	27804533	27804533	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagacatcgcagtccctcTcagaggagccatcgtggtcc	10	7	11	13	2	1	3	1	0	1	3	6	4	3	4	3	2	1	1	3	2	1	0	rs112180798		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:27804533T>C	ENST00000408964.2	+	1	5145	c.5094T>C	c.(5092-5094)tcT>tcC	p.S1698S		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1698	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GCAGTCCCTCTCAGAGGAGCC	0.587													C	27804533	T	C	27804533	2	2	534	1	0	0	0	0	0	0	0	1	2178	1538	54	3		3	C2orf16	2	27804533	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		27804533	215394840	6	47077											
CCDC150	284992	broad.mit.edu	37	chr2	197585312	197585312	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttttagggatctcaatcaaCagagggtgcagaagctggaa	13	10	12	6	0	2	2	2	0	1	2	3	4	2	4	0	3	3	2	0	3	5	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:197585312C>A	ENST00000389175.4	+	20	2314	c.2179C>A	c.(2179-2181)Cag>Aag	p.Q727K	CCDC150_ENST00000487663.1_3'UTR|CCDC150_ENST00000272831.7_Missense_Mutation_p.Q374K|CCDC150_ENST00000409270.1_Missense_Mutation_p.Q214K	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	727										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TCTCAATCAACAGAGGGTGCA	0.448													A	197585312	C	A	197585312	3	1	534	1	0	0	0	0	1	0	0	0	2811	479	17	4	2257	4	CCDC150	2	197585312	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	169780779	197585312	45614061	7	47078											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	534	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	11527800	209113112	34086261	8	47079											
VIL1	7429	broad.mit.edu	37	chr2	219295519	219295519	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgatggggctgagtcggcCgtctttcagcagctcttcca	7	11	12	11	2	3	2	1	2	2	0	5	2	4	2	2	3	2	3	2	3	1	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr2:219295519C>T	ENST00000248444.5	+	10	1108	c.1020C>T	c.(1018-1020)gcC>gcT	p.A340A	VIL1_ENST00000392114.2_Silent_p.A29A|VIL1_ENST00000440053.1_Silent_p.A340A	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	340	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTGAGTCGGCCGTCTTTCAGC	0.597													T	219295519	C	T	219295519	2	4	534	1	0	0	0	0	0	0	0	1	17266	639	23	1		1	VIL1	2	219295519	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	10182407	219295519	23903854	9	47080											
PCDH18	54510	broad.mit.edu	37	chr4	138452008	138452008	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagattaaataattgtttTcatatgtcttctgaagttta	13	20	5	3	0	3	2	1	1	2	1	3	2	3	2	0	0	0	2	0	0	7	10			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr4:138452008T>C	ENST00000344876.4	-	1	1621	c.1235A>G	c.(1234-1236)gAa>gGa	p.E412G	PCDH18_ENST00000412923.2_Missense_Mutation_p.E412G|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron|PCDH18_ENST00000507846.1_Missense_Mutation_p.E192G	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	412	Cadherin 4.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					ATAATTGTTTTCATATGTCTT	0.403													C	138452008	T	C	138452008	3	2	534	1	0	0	0	0	1	0	0	0	11589	1783	62	3	2188	3	PCDH18	4	138452008	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		138452008	52702268	10	47081											
PCDHA11	56138	broad.mit.edu	37	chr5	140249016	140249016	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccacctggaggtgatcGtggacaggccgctgcaggtt	7	8	15	11	2	0	1	0	1	0	0	2	3	1	3	3	5	1	4	3	5	0	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr5:140249016G>A	ENST00000398640.2	+	1	328	c.328G>A	c.(328-330)Gtg>Atg	p.V110M	PCDHA5_ENST00000529859.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAGGTGATCGTGGACAGGCC	0.552													A	140249016	G	A	140249016	3	1	534	1	0	0	0	0	1	0	0	0	11597	1145	40	1	330	1	PCDHA11	5	140249016	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		140249016	40666244	11	47082											
DUSP22	56940	broad.mit.edu	37	chr6	348774	348774	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccatcctctccagtatcgGcagtggctgaaggaagaata	11	10	10	10	1	1	2	0	1	1	1	5	3	3	3	3	3	0	3	3	3	5	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr6:348774G>T	ENST00000604971.1	+	4	1245	c.132G>T	c.(130-132)cgG>cgT	p.R44R	DUSP22_ENST00000419235.2_Silent_p.R147R|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000344450.5_Silent_p.R147R|DUSP22_ENST00000605315.1_Silent_p.R44R|DUSP22_ENST00000603453.1_Silent_p.R44R			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	147					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TCCAGTATCGGCAGTGGCTGA	0.522													T	348774	G	T	348774	2	4	534	1	0	0	0	0	0	0	0	1	4860	1190	42	4		4	DUSP22	6	348774	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		348774	170766293	12	47083											
FIGNL1	63979	broad.mit.edu	37	chr7	50513534	50513534	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttgcaacagcaaacaaTgcacggaccattttctcccc	12	8	5	16	1	1	0	0	0	1	0	2	1	1	1	4	1	5	3	4	1	3	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:50513534T>C	ENST00000419119.1	-	2	3005	c.1452A>G	c.(1450-1452)gcA>gcG	p.A484A	FIGNL1_ENST00000433017.1_Silent_p.A484A|FIGNL1_ENST00000395556.2_Silent_p.A484A|FIGNL1_ENST00000356889.4_Silent_p.A484A			Q6PIW4	FIGL1_HUMAN	fidgetin-like 1	484					ATP metabolic process|negative regulation of apoptosis|osteoblast differentiation|osteoblast proliferation|regulation of cell cycle	cytoplasm|nucleus	ATP binding|magnesium ion binding|nucleoside-triphosphatase activity			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	29	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;3.73e-08)|all_hematologic(4;7.51e-06)				CAGCAAACAATGCACGGACCA	0.443													C	50513534	T	C	50513534	2	2	534	1	0	0	0	0	0	0	0	1	5941	1451	51	3		3	FIGNL1	7	50513534	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		50513534	108625129	13	47084											
ZNF138	7697	broad.mit.edu	37	chr7	64292367	64292367	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataattcgtactggagaaaaAccctataaatgtgcacactg	16	10	7	8	1	0	1	0	0	0	1	1	2	0	1	1	1	3	2	1	1	7	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:64292367A>C	ENST00000359735.3	+	4	923	c.576A>C	c.(574-576)aaA>aaC	p.K192N	ZNF138_ENST00000397136.2_Missense_Mutation_p.K192N|ZNF138_ENST00000440598.1_3'UTR|ZNF138_ENST00000437743.1_Missense_Mutation_p.K217N|ZNF138_ENST00000440155.2_Missense_Mutation_p.K223N|ZNF138_ENST00000430838.2_3'UTR|ZNF138_ENST00000307355.7_Missense_Mutation_p.K249N	NM_001271637.1|NM_001271639.1	NP_001258566.1|NP_001258568.1	B4DP87	B4DP87_HUMAN	zinc finger protein 138	223					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.K192K(1)		kidney(1)|large_intestine(3)|lung(2)|stomach(1)	7		Lung NSC(55;0.0795)|all_lung(88;0.18)				CTGGAGAAAAACCCTATAAAT	0.368													C	64292367	A	C	64292367	3	2	534	1	0	0	0	0	1	0	0	0	17828	40	2	5	902	5	ZNF138	7	64292367	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	13778833	64292367	94846296	14	47085											
SEMA3C	10512	broad.mit.edu	37	chr7	80374454	80374454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatggggaccatttgtccGtcacaacagccaccatttct	9	11	7	14	1	2	0	1	0	1	0	4	1	4	1	5	2	2	0	5	2	1	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr7:80374454G>A	ENST00000265361.3	-	18	2573	c.2012C>T	c.(2011-2013)aCg>aTg	p.T671M	SEMA3C_ENST00000419255.2_Missense_Mutation_p.T671M|SEMA3C_ENST00000544525.1_Missense_Mutation_p.T689M	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	671					immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						CCATTTGTCCGTCACAACAGC	0.478													A	80374454	G	A	80374454	3	1	534	1	0	0	0	0	1	0	0	0	14119	1145	40	1	247	1	SEMA3C	7	80374454	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	16082087	80374454	78764209	15	47086											
JPH1	56704	broad.mit.edu	37	chr8	75171665	75171665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccctggccacagctctcgCgatgtcgcactcctggcgag	5	8	11	17	4	1	0	0	0	1	0	5	2	3	0	3	2	1	2	3	2	0	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:75171665C>T	ENST00000342232.4	-	3	1253	c.1213G>A	c.(1213-1215)Gcg>Acg	p.A405T		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	405	Ala-rich.				calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			ACAGCTCTCGCGATGTCGCAC	0.607													T	75171665	C	T	75171665	3	4	534	1	0	0	0	0	1	0	0	0	8018	768	27	1	784	1	JPH1	8	75171665	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		75171665	71192357	16	47087											
NUDCD1	84955	broad.mit.edu	37	chr8	110287672	110287672	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccttgtttatctccaattActagctctggccaggtcagt	7	14	7	13	0	3	0	1	0	2	0	4	0	3	0	4	2	2	2	4	2	4	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:110287672A>C	ENST00000239690.4	-	7	1456	c.1082T>G	c.(1081-1083)gTa>gGa	p.V361G	NUDCD1_ENST00000427660.2_Missense_Mutation_p.V332G	NM_032869.3	NP_116258.2	Q96RS6	NUDC1_HUMAN	NudC domain containing 1	361	CS.									breast(1)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(2)|skin(1)	25	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;1.56e-12)			ATCTCCAATTACTAGCTCTGG	0.383													C	110287672	A	C	110287672	3	2	534	1	0	0	0	0	1	0	0	0	10798	391	14	5	685	5	NUDCD1	8	110287672	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08	35116007	110287672	36076350	17	47088											
EPPK1	83481	broad.mit.edu	37	chr8	144940576	144940576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccacggcctcctccacCgacagcctcaggttgcgcac	6	5	11	19	4	1	0	1	0	0	0	3	1	3	0	6	3	2	2	6	3	0	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr8:144940576C>T	ENST00000525985.1	-	2	6917	c.6846G>A	c.(6844-6846)tcG>tcA	p.S2282S				P58107	EPIPL_HUMAN	epiplakin 1	2282						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCTCCACCGACAGCCTCA	0.736													T	144940576	C	T	144940576	2	4	534	1	0	0	0	0	0	0	0	1	5231	639	23	1		1	EPPK1	8	144940576	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	34652904	144940576	1423446	18	47089											
ZFP37	7539	broad.mit.edu	37	chr9	115811700	115811700	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggacaaccttgactgggTcttttccccttccccaacca	7	12	6	16	0	1	1	0	1	1	0	3	2	3	2	6	2	2	0	6	2	2	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:115811700T>C	ENST00000374227.3	-	3	318	c.291A>G	c.(289-291)agA>agG	p.R97R	ZFP37_ENST00000555206.1_Silent_p.R98R|ZFP37_ENST00000553380.1_Silent_p.R112R	NM_001282515.1|NM_001282518.1	NP_001269444.1|NP_001269447.1	Q9Y6Q3	ZFP37_HUMAN	ZFP37 zinc finger protein	97	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	38						CTTGACTGGGTCTTTTCCCCT	0.403													C	115811700	T	C	115811700	2	2	534	1	0	0	0	0	0	0	0	1	17749	1664	58	3		3	ZFP37	9	115811700	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		115811700	25401731	19	47090											
DDX31	64794	broad.mit.edu	37	chr9	135522404	135522404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccaggacagaaatacTgactggatcatgcaaactga	14	9	9	9	0	1	3	1	2	0	1	2	5	2	5	1	2	3	1	1	2	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr9:135522404T>C	ENST00000372159.3	-	12	1475	c.1324A>G	c.(1324-1326)Agt>Ggt	p.S442G	DDX31_ENST00000310532.2_Missense_Mutation_p.S442G|DDX31_ENST00000372153.1_Missense_Mutation_p.S442G|DDX31_ENST00000438527.3_Missense_Mutation_p.S313G	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	442	Helicase ATP-binding.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		ACAGAAATACTGACTGGATCA	0.493													C	135522404	T	C	135522404	3	2	534	1	0	0	0	0	1	0	0	0	4390	1580	55	3	1274	3	DDX31	9	135522404	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	19710704	135522404	5691027	20	47091											
ANK3	288	broad.mit.edu	37	chr10	61958113	61958113	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catacctttgttgttatagaTaaagacgctccatgatccaa	13	13	6	9	1	0	3	0	1	0	2	2	3	2	3	3	0	1	3	3	0	6	6			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr10:61958113T>C	ENST00000280772.2	-	14	1865	c.1674A>G	c.(1672-1674)ttA>ttG	p.L558L	ANK3_ENST00000373827.2_Silent_p.L552L|ANK3_ENST00000503366.1_Silent_p.L541L	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGTTATAGATAAAGACGCTC	0.498													C	61958113	T	C	61958113	2	2	534	1	0	0	0	0	0	0	0	1	622	1403	49	3		3	ANK3	10	61958113	Silent	SNP	T	TCGA-HT-7606-01A-11D-2086-08		61958113	73576634	21	47092											
OR2AG2	338755	broad.mit.edu	37	chr11	6789589	6789589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagtcacacctgtcacGtatattataagctcatacct	14	11	6	10	1	3	0	3	0	0	0	3	1	3	1	2	1	2	2	2	1	6	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493													A	6789589	G	A	6789589	2	1	534	1	0	0	0	0	0	0	0	1	11061	1140	40	1		1	OR2AG2	11	6789589	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08		6789589	128216927	22	47093											
SIPA1	6494	broad.mit.edu	37	chr11	65408733	65408733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccaccagtgcttgagcctcGatggtttgcccactatgacg	7	10	10	14	2	0	2	0	2	0	0	1	3	0	2	4	1	3	2	4	1	1	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr11:65408733G>A	ENST00000394224.3	+	2	637	c.341G>A	c.(340-342)cGa>cAa	p.R114Q	SIPA1_ENST00000534313.1_Missense_Mutation_p.R114Q|SIPA1_ENST00000527525.1_Missense_Mutation_p.R114Q|SIPA1_ENST00000394227.3_Missense_Mutation_p.R114Q	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	114					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTTGAGCCTCGATGGTTTGCC	0.632													A	65408733	G	A	65408733	3	1	534	1	0	0	0	0	1	0	0	0	14422	1058	37	1	343	1	SIPA1	11	65408733	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	58619144	65408733	69597783	23	47094											
PLEKHA5	54477	broad.mit.edu	37	chr12	19489486	19489486	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagaatatgataagttagAatacgatgtaactgttacca	17	11	9	4	1	0	3	0	1	0	2	0	6	0	3	1	0	3	3	1	0	8	6			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:19489486A>C	ENST00000538714.1	+	18	2355	c.2351A>C	c.(2350-2352)gAa>gCa	p.E784A	PLEKHA5_ENST00000299275.6_Missense_Mutation_p.E726A|PLEKHA5_ENST00000317589.4_Missense_Mutation_p.E726A|PLEKHA5_ENST00000539256.1_Missense_Mutation_p.E484A|PLEKHA5_ENST00000355397.3_Missense_Mutation_p.E784A|PLEKHA5_ENST00000543806.1_Missense_Mutation_p.E645A|PLEKHA5_ENST00000359180.3_Missense_Mutation_p.E726A|PLEKHA5_ENST00000429027.2_Missense_Mutation_p.E829A|PLEKHA5_ENST00000424268.1_Missense_Mutation_p.E657A	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	726							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					GATAAGTTAGAATACGATGTA	0.348													C	19489486	A	C	19489486	3	2	534	1	0	0	0	0	1	0	0	0	12136	246	9	5	2364	5	PLEKHA5	12	19489486	Missense_Mutation	SNP	A	TCGA-HT-7606-01A-11D-2086-08		19489486	114362409	24	47095											
KCNJ8	3764	broad.mit.edu	37	chr12	21926252	21926252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatgtaagcatagatgTccccatgggcaaaggccacc	11	8	9	13	0	1	1	0	0	1	1	3	1	2	1	5	2	1	3	5	2	3	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:21926252T>C	ENST00000240662.2	-	2	644	c.299A>G	c.(298-300)gAc>gGc	p.D100G		NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	100						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	AGCATAGATGTCCCCATGGGC	0.507											OREG0021704	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	21926252	T	C	21926252	3	2	534	1	0	0	0	0	1	0	0	0	8114	1667	58	3	983	3	KCNJ8	12	21926252	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08	2436766	21926252	111925643	25	47096											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	6	10	18	7	0	0	1	0	0	0	1	1	4	1	4	2	6	2	4	2	6	1	4	rs2926746		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000393891.4_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL								A	57111705	G	A	57111705	2	1	534	1	0	0	0	0	0	0	0	1	10209	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-HT-7606-01A-11D-2086-08	35185453	57111705	76740190	26	47097											
LRRK1	79705	broad.mit.edu	37	chr15	101588788	101588788	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagaaatcgctgtagcacAttcagagtgaaaagaaatca	18	7	9	7	1	2	4	2	1	0	3	3	5	2	4	0	0	1	3	0	0	5	2			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr15:101588788A>G	ENST00000284395.5	+	23	3616	c.3216A>G	c.(3214-3216)acA>acG	p.T1072T	LRRK1_ENST00000388948.3_Silent_p.T1075T|RP11-505E24.3_ENST00000558979.1_RNA			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1075					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCTGTAGCACATTCAGAGTGA	0.448													G	101588788	A	G	101588788	2	3	534	1	0	0	0	0	0	0	0	1	9102	204	8	3		3	LRRK1	15	101588788	Silent	SNP	A	TCGA-HT-7606-01A-11D-2086-08		101588788	942604	27	47098											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	534	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08		7577121	73618089	28	47099											
GAS2L2	246176	broad.mit.edu	37	chr17	34079638	34079638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgcctcagccaggaaggCcagggcagcgtcagtgacaa	11	4	15	11	1	2	1	2	1	0	0	2	2	2	2	3	4	3	1	3	4	2	0			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:34079638C>T	ENST00000254466.6	-	1	259	c.232G>A	c.(232-234)Gcc>Acc	p.A78T	GAS2L2_ENST00000587565.1_Missense_Mutation_p.A78T	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	78	CH.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GCCAGGAAGGCCAGGGCAGCG	0.652													T	34079638	C	T	34079638	3	4	534	1	0	0	0	0	1	0	0	0	6301	739	26	2	2434	2	GAS2L2	17	34079638	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	26502517	34079638	47115572	29	47100											
HELZ	9931	broad.mit.edu	37	chr17	65174991	65174991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcttagaggaagaatcccaaCgtttagctgtggttactagc	11	12	10	8	1	1	2	0	0	1	2	2	3	2	3	1	2	4	3	1	2	7	5			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr17:65174991C>T	ENST00000358691.5	-	13	1380	c.1214G>A	c.(1213-1215)cGt>cAt	p.R405H	HELZ_ENST00000580168.1_Missense_Mutation_p.R405H	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					AGAATCCCAACGTTTAGCTGT	0.348													T	65174991	C	T	65174991	3	4	534	1	0	0	0	0	1	0	0	0	7104	536	19	1	4698	1	HELZ	17	65174991	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08	31095353	65174991	16020219	30	47101											
SMARCA4	6597	broad.mit.edu	37	chr19	11132434	11132434	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgattgtggacgaaggtCaccgcatgaagaaccaccac	14	6	10	11	2	1	3	1	2	0	1	1	5	1	4	3	2	1	1	3	2	3	1			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:11132434C>A	ENST00000358026.2	+	19	2934	c.2650C>A	c.(2650-2652)Cac>Aac	p.H884N	SMARCA4_ENST00000589677.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000590574.1_Missense_Mutation_p.H884N|SMARCA4_ENST00000429416.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000450717.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000444061.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000413806.3_Missense_Mutation_p.H884N|SMARCA4_ENST00000541122.2_Missense_Mutation_p.H884N|SMARCA4_ENST00000344626.4_Missense_Mutation_p.H884N	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	884	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GGACGAAGGTCACCGCATGAA	0.622			"F, N, Mis"		NSCLC								A	11132434	C	A	11132434	3	1	534	1	0	0	0	0	1	0	0	0	14864	826	29	4	2720	4	SMARCA4	19	11132434	Missense_Mutation	SNP	C	TCGA-HT-7606-01A-11D-2086-08		11132434	47996549	31	47102											
EPS15L1	58513	broad.mit.edu	37	chr19	16487940	16487940	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcttactgaccgctgggCggtttaggccgtggaggagc	8	8	16	9	3	0	1	0	1	0	0	0	3	0	3	2	5	3	3	2	5	3	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr19:16487940C>T	ENST00000455140.2	-	22	2439	c.2373G>A	c.(2371-2373)ccG>ccA	p.P791P	EPS15L1_ENST00000248070.6_Silent_p.P791P|EPS15L1_ENST00000535753.2_Intron|EPS15L1_ENST00000594975.1_Intron	NM_001258374.1	NP_001245303.1	Q9UBC2	EP15R_HUMAN	epidermal growth factor receptor pathway substrate 15-like 1	791	15 X 3 AA repeats of D-P-F.|Pro-rich.				endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	coated pit|nucleus|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(12)|ovary(4)|skin(2)	30						GACCGCTGGGCGGTTTAGGCC	0.612											OREG0025332	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	16487940	C	T	16487940	2	4	534	1	0	0	0	0	0	0	0	1	5234	755	27	1		1	EPS15L1	19	16487940	Silent	SNP	C	TCGA-HT-7606-01A-11D-2086-08	5355506	16487940	42641043	32	47103											
SLC25A1	6576	broad.mit.edu	37	chr22	19164192	19164192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagagggttcatgggctTgttggggttgtcccctggat	5	13	16	7	0	2	1	2	0	0	1	3	3	3	2	2	5	0	4	2	5	0	4			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chr22:19164192T>G	ENST00000215882.5	-	7	802	c.646A>C	c.(646-648)Aag>Cag	p.K216Q	SLC25A1_ENST00000461267.1_5'UTR|SLC25A1_ENST00000451283.1_Missense_Mutation_p.K113Q	NM_005984.3	NP_005975.1	P53007	TXTP_HUMAN	solute carrier family 25 (mitochondrial carrier; citrate transporter), member 1	216					gluconeogenesis|long-chain fatty-acyl-CoA biosynthetic process|mitochondrial citrate transport|triglyceride biosynthetic process	integral to membrane|mitochondrial inner membrane	citrate transmembrane transporter activity|protein binding			cervix(1)|lung(1)	2	Colorectal(54;0.0993)	all_lung(157;9.94e-09)		Lung(27;0.124)		TTCATGGGCTTGTTGGGGTTG	0.592													G	19164192	T	G	19164192	3	3	534	1	0	0	0	0	1	0	0	0	14565	1821	63	5	301	5	SLC25A1	22	19164192	Missense_Mutation	SNP	T	TCGA-HT-7606-01A-11D-2086-08		19164192	32140374	33	47104											
SHROOM4	57477	broad.mit.edu	37	chrX	50350672	50350674	+	In_Frame_Del	DEL	TCT	TCT	-																															aatactggggtggcagctccTcttcctcctcctctgcctcc																								rs3747282	byFrequency	TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:50350672_50350674delTCT	ENST00000376020.2	-	6	3493_3495	c.3468_3470delAGA	c.(3466-3471)gaagag>gag	p.1156_1157EE>E	SHROOM4_ENST00000460112.3_In_Frame_Del_p.1040_1041EE>E|SHROOM4_ENST00000289292.7_In_Frame_Del_p.1156_1157EE>E	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	1156	Glu-rich.				actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding	p.E1156E(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TGGCAGctcctcttcctcctcct	0.557													-	50350674	TCT	-	50350672	7	5	534	1	0	1	0	1	0	0	0	0	14390	1551	54	0	1027	0	SHROOM4	23	50350672	In_Frame_Del	DEL	TCT	TCGA-HT-7606-01A-11D-2086-08		50350672	104919888	34	47105											
GSPT2	23708	broad.mit.edu	37	chrX	51488448	51488448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaagacacgaccccgcttcGtgaaacaagatcaagtatgc	14	7	9	11	3	1	3	1	1	0	2	2	4	1	3	2	0	2	3	2	0	5	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:51488448G>A	ENST00000340438.4	+	1	1968	c.1726G>A	c.(1726-1728)Gtg>Atg	p.V576M		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	576					cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|translational termination	cytoplasm	GTP binding|GTPase activity|protein binding			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					ACCCCGCTTCGTGAAACAAGA	0.418													A	51488448	G	A	51488448	3	1	534	1	0	0	0	0	1	0	0	0	6882	1145	40	1	1728	1	GSPT2	23	51488448	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	1137776	51488448	103782112	35	47106											
ZCCHC5	203430	broad.mit.edu	37	chrX	77912924	77912924	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaccctccccttggcagaGttgatggatgcactggttgg	7	11	13	10	0	0	3	0	2	0	1	1	4	1	4	3	4	1	4	3	4	0	3			TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:77912924G>T	ENST00000321110.1	-	2	1289	c.994C>A	c.(994-996)Ctc>Atc	p.L332I		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	332							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						CCTTGGCAGAGTTGATGGATG	0.463													T	77912924	G	T	77912924	3	4	534	1	0	0	0	0	1	0	0	0	17692	1029	36	4	437	4	ZCCHC5	23	77912924	Missense_Mutation	SNP	G	TCGA-HT-7606-01A-11D-2086-08	26424476	77912924	77357636	36	47107											
RBM41	55285	broad.mit.edu	37	chrX	106331986	106331986	+	Frame_Shift_Del	DEL	C	C	-																															tctcataagttgaaactcttCaagacgttttttcattatca																										TCGA-HT-7606-01A-11D-2086-08	TCGA-HT-7606-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9734311d-3183-459b-8200-7104fba3bf64	7c7214f7-036a-4ac9-9883-1a93d9eb6f10	g.chrX:106331986delC	ENST00000372487.1	-	5	633	c.607delG	c.(607-609)gaafs	p.E204fs	RBM41_ENST00000372479.3_Frame_Shift_Del_p.E204fs|RBM41_ENST00000203616.8_Frame_Shift_Del_p.E228fs	NM_001171080.1	NP_001164551.1	Q96IZ5	RBM41_HUMAN	RNA binding motif protein 41	204							nucleotide binding|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	13						TGAAACTCTTCAAGACGTTTT	0.428													-	106331986	C	-	106331986	7	5	534	1	0	1	0	1	0	0	0	0	13223	835	29	0	655	0	RBM41	23	106331986	Frame_Shift_Del	DEL	C	TCGA-HT-7606-01A-11D-2086-08	28419062	106331986	48938574	37	47108											
PHF13	148479	broad.mit.edu	37	chr1	6681634	6681634	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaaagtgccgggactcCaagtttgacatccgccgttc	9	9	10	13	3	0	1	0	1	0	0	3	2	2	2	5	1	2	2	5	1	3	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:6681634C>G	ENST00000377648.4	+	4	1222	c.840C>G	c.(838-840)tcC>tcG	p.S280S	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	280					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		GCCGGGACTCCAAGTTTGACA	0.577													G	6681634	C	G	6681634	2	3	535	1	0	0	0	0	0	0	0	1	11901	581	21	4		4	PHF13	1	6681634	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		6681634	242568987	1	47109											
CLDN19	149461	broad.mit.edu	37	chr1	43204166	43204166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgctgtctcccacccgcGtacacttcatgccaactacg	7	10	8	16	3	2	0	1	0	1	0	3	0	2	0	3	1	5	3	3	1	3	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:43204166G>A	ENST00000539749.1	-	2	504	c.314C>T	c.(313-315)aCg>aTg	p.T105M	CLDN19_ENST00000296387.1_Missense_Mutation_p.T105M|CLDN19_ENST00000372539.3_Missense_Mutation_p.T105M	NM_001185117.1	NP_001172046.1	Q8N6F1	CLD19_HUMAN	claudin 19	105					calcium-independent cell-cell adhesion|response to stimulus|visual perception	basolateral plasma membrane|integral to membrane|tight junction	identical protein binding			breast(2)|large_intestine(1)|lung(2)|skin(1)	6	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TCCCACCCGCGTACACTTCAT	0.637													A	43204166	G	A	43204166	3	1	535	1	0	0	0	0	1	0	0	0	3511	1145	40	1	492	1	CLDN19	1	43204166	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	36522532	43204166	206046455	2	47110											
C1orf106	55765	broad.mit.edu	37	chr1	200880683	200880683	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccagattcctgctttccCgcgaccaagcccccgctgcc	5	8	9	19	3	0	1	0	0	0	1	2	2	2	1	7	0	4	2	7	0	1	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr1:200880683C>T	ENST00000367342.4	+	9	1517	c.1317C>T	c.(1315-1317)ccC>ccT	p.P439P	C1orf106_ENST00000413687.2_Silent_p.P354P	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	439										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCTGCTTTCCCGCGACCAAGC	0.682													T	200880683	C	T	200880683	2	4	535	1	0	0	0	0	0	0	0	1	2000	639	23	1		1	C1orf106	1	200880683	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	157676517	200880683	48369938	3	47111											
UGGT1	56886	broad.mit.edu	37	chr2	128917277	128917277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgcaggagctgacattGcggagttctctgttggggta	6	12	16	7	1	1	1	0	1	1	0	2	3	1	3	0	5	3	6	0	5	1	4	rs141470228	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:128917277G>A	ENST00000375990.3	+	23	2876	c.2473G>A	c.(2473-2475)Gcg>Acg	p.A825T	UGGT1_ENST00000259253.6_Missense_Mutation_p.A849T			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	849					'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						AGCTGACATTGCGGAGTTCTC	0.567													A	128917277	G	A	128917277	3	1	535	1	0	0	0	0	1	0	0	0	17043	1319	46	2	2635	2	UGGT1	2	128917277	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		128917277	114282096	4	47112											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	535	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	80195835	209113112	34086261	5	47113											
VIL1	7429	broad.mit.edu	37	chr2	219296838	219296838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggccacttctatgggggcGactgctacctgctgctctac	6	11	11	13	1	2	0	0	0	2	0	2	1	2	0	2	3	5	3	2	3	4	5			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr2:219296838G>A	ENST00000248444.5	+	12	1361	c.1273G>A	c.(1273-1275)Gac>Aac	p.D425N	VIL1_ENST00000392114.2_Missense_Mutation_p.D114N	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	425	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.D425Y(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTATGGGGGCGACTGCTACCT	0.592													A	219296838	G	A	219296838	3	1	535	1	0	0	0	0	1	0	0	0	17266	1058	37	1	1315	1	VIL1	2	219296838	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	10183726	219296838	23902535	6	47114											
SIAH2	6478	broad.mit.edu	37	chr3	150480449	150480451	+	In_Frame_Del	DEL	CCG	CCG	-																															gcggggacaccgggccggccCcgccgccgccgccggggccc																										TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:150480449_150480451delCCG	ENST00000312960.3	-	1	713_715	c.186_188delCGG	c.(184-189)ggcggg>ggg	p.62_63GG>G	SIAH2_ENST00000472885.1_Intron	NM_005067.5	NP_005058.3	O43255	SIAH2_HUMAN	siah E3 ubiquitin protein ligase 2	62					apoptosis|axon guidance|cell cycle|negative regulation of canonical Wnt receptor signaling pathway|small GTPase mediated signal transduction|ubiquitin-dependent protein catabolic process	cytosol|nucleus	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)	16			LUSC - Lung squamous cell carcinoma(72;0.0538)|Lung(72;0.066)			cgggccggccccgccgccgccgc	0.764													-	150480451	CCG	-	150480449	7	5	535	1	0	1	0	1	0	0	0	0	14394	623	22	0	794	0	SIAH2	3	150480449	In_Frame_Del	DEL	CCG	TCGA-HT-7607-01A-11D-2086-08		150480449	47541981	7	47115											
PIK3CA	5290	broad.mit.edu	37	chr3	178928079	178928079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggccagtacctcatggattaGaagatttgctgaaccctatt	11	12	9	9	0	1	3	1	1	0	2	1	4	1	4	3	2	3	2	3	2	5	5			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr3:178928079G>A	ENST00000263967.3	+	8	1514	c.1357G>A	c.(1357-1359)Gaa>Aaa	p.E453K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.G451_L456>V(1)|p.P449_L455del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TCATGGATTAGAAGATTTGCT	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178928079	G	A	178928079	3	1	535	1	0	0	0	0	1	0	0	0	11990	943	33	2	1383	2	PIK3CA	3	178928079	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	28447630	178928079	19094351	8	47116											
AHRR	57491	broad.mit.edu	37	chr5	413500	413500	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtgagtgcagaagggacGatattttatgcatcagcaac	12	10	12	7	2	1	2	1	1	0	1	2	4	1	3	0	1	4	3	0	1	4	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:413500G>A	ENST00000316418.5	+	5	449	c.405G>A	c.(403-405)acG>acA	p.T135T	AHRR_ENST00000512529.1_5'UTR|AHRR_ENST00000505113.1_Silent_p.T135T	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	135	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			CAGAAGGGACGATATTTTATG	0.403													A	413500	G	A	413500	2	1	535	1	0	0	0	0	0	0	0	1	417	1045	37	1		1	AHRR	5	413500	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08		413500	180501760	9	47117											
KIAA1191	57179	broad.mit.edu	37	chr5	175779732	175779732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcaggggagggtagaCtggcctctccttcctccacc	6	9	12	14	0	2	1	1	0	1	1	5	2	4	2	5	5	0	2	5	5	1	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr5:175779732C>T	ENST00000298569.4	-	5	760	c.227G>A	c.(226-228)aGt>aAt	p.S76N	KIAA1191_ENST00000393728.2_Intron|KIAA1191_ENST00000510164.1_Missense_Mutation_p.S76N|KIAA1191_ENST00000533553.1_Intron|KIAA1191_ENST00000393725.2_Missense_Mutation_p.S57N|RP11-843P14.2_ENST00000508187.1_RNA	NM_020444.3	NP_065177.2	Q96A73	K1191_HUMAN	KIAA1191	76							protein binding			endometrium(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6	all_cancers(89;0.00575)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|all_hematologic(541;0.214)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.101)		GGAGGGTAGACTGGCCTCTCC	0.527													T	175779732	C	T	175779732	3	4	535	1	0	0	0	0	1	0	0	0	8270	565	20	2	710	2	KIAA1191	5	175779732	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	175366232	175779732	5135528	10	47118											
GMPR	2766	broad.mit.edu	37	chr6	16295259	16295259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctctgagggtaagactgtgGaagttccttacaaaggagat	12	10	12	7	0	1	3	0	1	1	2	2	5	2	4	2	3	1	2	2	3	4	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:16295259G>A	ENST00000259727.4	+	9	994	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	294					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				TAAGACTGTGGAAGTTCCTTA	0.498													A	16295259	G	A	16295259	3	1	535	1	0	0	0	0	1	0	0	0	6552	1175	41	2	914	2	GMPR	6	16295259	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		16295259	154819808	11	47119											
ZNF292	23036	broad.mit.edu	37	chr6	87965029	87965030	+	Frame_Shift_Del	DEL	AG	AG	-																															cagaatagtacgacatgctcAgaaacattacaaagatggaa																										TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:87965029_87965030delAG	ENST00000369577.3	+	8	1725_1726	c.1682_1683delAG	c.(1681-1683)cagfs	p.Q561fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.Q556fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	561					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CGACATGCTCAGAAACATTACA	0.371													-	87965030	AG	-	87965029	7	5	535	1	0	1	0	1	0	0	0	0	17927	188	7	0	1712	0	ZNF292	6	87965029	Frame_Shift_Del	DEL	AG	TCGA-HT-7607-01A-11D-2086-08	71669770	87965029	83150038	12	47120											
WDR27	253769	broad.mit.edu	37	chr6	170052047	170052047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtggtgctgacgcataaccaGatgacctaactttactatgg	11	11	10	9	1	0	3	0	2	0	1	0	3	0	3	2	2	4	2	2	2	4	5			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr6:170052047G>A	ENST00000333572.6	-	14	1979	c.1460C>T	c.(1459-1461)tCt>tTt	p.S487F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Missense_Mutation_p.S487F|WDR27_ENST00000423258.1_Missense_Mutation_p.S360F			A2RRH5	WDR27_HUMAN	WD repeat domain 27	457										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CGCATAACCAGATGACCTAAC	0.428													A	170052047	G	A	170052047	3	1	535	1	0	0	0	0	1	0	0	0	17386	942	33	2	1161	2	WDR27	6	170052047	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	82087018	170052047	1063020	13	47121											
TRRAP	8295	broad.mit.edu	37	chr7	98508712	98508712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtattaggtccagatagcaGgaaatggacagacatacatc	15	9	10	7	0	0	2	0	0	0	2	2	4	1	4	1	3	2	2	1	3	5	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:98508712G>A	ENST00000359863.4	+	17	2034	c.1825G>A	c.(1825-1827)Gga>Aga	p.G609R	TRRAP_ENST00000355540.3_Missense_Mutation_p.G609R|TRRAP_ENST00000446306.3_Missense_Mutation_p.G608R	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	609					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CCAGATAGCAGGAAATGGACA	0.453													A	98508712	G	A	98508712	3	1	535	1	0	0	0	0	1	0	0	0	16702	1001	35	2	1887	2	TRRAP	7	98508712	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		98508712	60629951	14	47122											
POT1	25913	broad.mit.edu	37	chr7	124499166	124499166	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtcctggtgccatcccataCctgccataagagagtagagt	10	10	10	11	0	0	2	0	0	0	2	2	3	2	2	5	1	3	1	5	1	3	3			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr7:124499166C>A	ENST00000357628.3	-	9	1145	c.547G>T	c.(547-549)Gta>Tta	p.V183L	POT1_ENST00000393329.1_Splice_Site_p.V52L	NM_015450.2	NP_056265.2	Q9NUX5	POTE1_HUMAN	protection of telomeres 1	183					DNA duplex unwinding|negative regulation of telomere maintenance via telomerase|positive regulation of DNA strand elongation|positive regulation of helicase activity|positive regulation of telomerase activity|positive regulation of telomere maintenance via telomerase|telomere capping|telomere formation via telomerase|telomere maintenance via telomerase	nuclear telomere cap complex|nucleoplasm	DEAD/H-box RNA helicase binding|single-stranded telomeric DNA binding|telomerase inhibitor activity	p.V183L(2)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	47						CCATCCCATACCTGCCATAAG	0.353													A	124499166	C	A	124499166	5	1	535	1	0	0	0	0	0	0	1	0	12337	521	18	4	1401	4	POT1	7	124499166	Splice_Site	SNP	C	TCGA-HT-7607-01A-11D-2086-08	25990454	124499166	34639497	15	47123											
COL27A1	85301	broad.mit.edu	37	chr9	117050747	117050747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtccacagggggagcagggcGaggacggcaaggctgagggg	9	2	22	8	2	0	1	0	1	0	0	1	4	1	3	1	8	1	3	1	8	1	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr9:117050747G>A	ENST00000356083.3	+	42	4391	c.4000G>A	c.(4000-4002)Gag>Aag	p.E1334K		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	1334	Collagen-like 12.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						GGAGCAGGGCGAGGACGGCAA	0.637													A	117050747	G	A	117050747	3	1	535	1	0	0	0	0	1	0	0	0	3716	1059	37	1	4166	1	COL27A1	9	117050747	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		117050747	24162684	16	47124											
PDCD4	27250	broad.mit.edu	37	chr10	112641024	112641024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagtgactctctcttttccgGtgatgaagaaaatgctggga	11	12	11	7	1	2	4	0	3	2	1	4	5	3	5	1	2	1	1	1	2	4	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:112641024G>A	ENST00000393104.2	+	4	404	c.44G>A	c.(43-45)gGt>gAt	p.G15D	PDCD4_ENST00000280154.7_Missense_Mutation_p.G26D	NM_145341.3	NP_663314.1	Q53EL6	PDCD4_HUMAN	programmed cell death 4 (neoplastic transformation inhibitor)	26					apoptosis|cell aging|negative regulation of cell cycle|negative regulation of JUN kinase activity|negative regulation of transcription, DNA-dependent	cytosol|nucleus	protein binding|RNA binding			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	13		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.000526)|all cancers(201;0.00794)|BRCA - Breast invasive adenocarcinoma(275;0.125)		CTCTTTTCCGGTGATGAAGAA	0.318													A	112641024	G	A	112641024	3	1	535	1	0	0	0	0	1	0	0	0	11697	1261	44	2	97	2	PDCD4	10	112641024	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		112641024	22893723	17	47125											
BAG3	9531	broad.mit.edu	37	chr10	121432114	121432114	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccagccaggagcagcacGccactccactccccctcgcc	8	4	7	22	2	1	0	1	0	0	0	4	1	3	1	7	1	3	2	7	1	0	0	rs147259596	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr10:121432114G>A	ENST00000369085.3	+	3	1161	c.855G>A	c.(853-855)acG>acA	p.T285T		NM_004281.3	NP_004272.2	O95817	BAG3_HUMAN	BCL2-associated athanogene 3	285					anti-apoptosis|apoptosis|protein folding	cytosol				endometrium(3)|kidney(1)|large_intestine(3)|liver(2)|lung(5)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	20		Lung NSC(174;0.109)|all_lung(145;0.142)		all cancers(201;0.00187)|BRCA - Breast invasive adenocarcinoma(275;0.148)		GGAGCAGCACGCCACTCCACT	0.657													A	121432114	G	A	121432114	2	1	535	1	0	0	0	0	0	0	0	1	1293	1074	38	1		1	BAG3	10	121432114	Silent	SNP	G	TCGA-HT-7607-01A-11D-2086-08	8791090	121432114	14102633	18	47126											
RAD51AP1	10635	broad.mit.edu	37	chr12	4668029	4668029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgtttcctttcagcggcatCtggaggtagcagaagtagca	10	11	12	8	1	2	1	1	0	1	1	3	2	3	2	1	3	3	6	1	3	3	4	rs140432356	byFrequency	TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:4668029C>T	ENST00000228843.9	+	10	979	c.929C>T	c.(928-930)tCt>tTt	p.S310F	RAD51AP1_ENST00000544927.1_Silent_p.L224L|RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S260F|RAD51AP1_ENST00000544931.1_3'UTR|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S293F|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S191F	NM_001130862.1	NP_001124334.1	Q96B01	R51A1_HUMAN	RAD51 associated protein 1	310					double-strand break repair via homologous recombination		double-stranded DNA binding|protein binding|RNA binding|single-stranded DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			TCAGCGGCATCTGGAGGTAGC	0.418													T	4668029	C	T	4668029	3	4	535	1	0	0	0	0	1	0	0	0	13074	913	32	2	967	2	RAD51AP1	12	4668029	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		4668029	129183866	19	47127											
PA2G4	5036	broad.mit.edu	37	chr12	56504773	56504773	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagatgagaagaaggctCggatgggtgtggtggagtgc	10	9	19	3	1	0	4	0	2	0	3	1	7	0	6	0	5	1	1	0	5	3	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr12:56504773C>T	ENST00000303305.6	+	10	1287	c.868C>T	c.(868-870)Cgg>Tgg	p.R290W	PA2G4_ENST00000552766.1_Intron|RP11-603J24.17_ENST00000548595.1_RNA	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	290					cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			GAAGAAGGCTCGGATGGGTGT	0.418													T	56504773	C	T	56504773	3	4	535	1	0	0	0	0	1	0	0	0	11437	875	31	1	906	1	PA2G4	12	56504773	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	51836744	56504773	77347122	20	47128											
ING1	3621	broad.mit.edu	37	chr13	111372025	111372025	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctccaaggccaaggcggagCgagaggcgtcccctgccgac	8	3	15	15	4	0	1	0	0	0	1	2	4	2	2	5	4	2	1	5	4	2	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr13:111372025C>T	ENST00000375774.3	+	2	1477	c.1015C>T	c.(1015-1017)Cga>Tga	p.R339*	ING1_ENST00000338450.7_Nonsense_Mutation_p.R152*|ING1_ENST00000375775.3_Nonsense_Mutation_p.R127*|ING1_ENST00000333219.7_Nonsense_Mutation_p.R196*	NM_005537.4	NP_005528.3	Q9UK53	ING1_HUMAN	inhibitor of growth family, member 1	339					cell cycle|negative regulation of cell growth|negative regulation of cell proliferation	nucleus	zinc ion binding	p.R196*(3)|p.R339*(1)|p.R152*(1)		endometrium(4)|large_intestine(6)|lung(1)|ovary(1)	12	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.188)			CAAGGCGGAGCGAGAGGCGTC	0.627													T	111372025	C	T	111372025	4	4	535	1	0	0	0	0	0	1	0	0	7793	760	27	1	1169	1	ING1	13	111372025	Nonsense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		111372025	3797853	21	47129											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	6	13	14	8	1	1	0	0	0	1	0	1	2	1	2	2	4	1	1	2	4	3	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													T	65544747	C	T	65544747	3	4	535	1	0	0	0	0	1	0	0	0	9414	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		65544747	41804793	22	47130											
HCN4	10021	broad.mit.edu	37	chr15	73616140	73616140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgggcgtgggggttggggtgGcagaggcagcagcctggacg	5	5	23	8	3	0	1	0	0	0	1	0	2	0	2	1	8	2	4	1	8	0	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:73616140G>A	ENST00000261917.3	-	8	3287	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	765					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GGTTGGGGTGGCAGAGGCAGC	0.647													A	73616140	G	A	73616140	3	1	535	1	0	0	0	0	1	0	0	0	7054	1203	42	2	1321	2	HCN4	15	73616140	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		73616140	28915252	23	47131											
ACAN	176	broad.mit.edu	37	chr15	89400165	89400165	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagtagaggagatcagcgGgcttccttctggagaagttc	9	10	15	7	1	2	3	1	0	1	3	4	6	3	4	1	4	1	3	1	4	2	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr15:89400165G>T	ENST00000439576.2	+	12	4723	c.4349G>T	c.(4348-4350)gGg>gTg	p.G1450V	ACAN_ENST00000561243.1_Missense_Mutation_p.G1450V|ACAN_ENST00000352105.7_Missense_Mutation_p.G1450V|ACAN_ENST00000559004.1_Missense_Mutation_p.G1450V	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1450					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			GAGATCAGCGGGCTTCCTTCT	0.512													T	89400165	G	T	89400165	3	4	535	1	0	0	0	0	1	0	0	0	117	1232	43	4	4391	4	ACAN	15	89400165	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	15784025	89400165	13131227	24	47132											
ZP2	7783	broad.mit.edu	37	chr16	21214448	21214448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaataaaaggtctttacctAtagaaacgggtgactcacag	15	11	8	7	1	2	2	1	1	1	1	2	2	2	2	1	2	2	0	1	2	7	6	rs142277591		TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr16:21214448A>G	ENST00000574002.1	-	11	1579	c.1097T>C	c.(1096-1098)aTa>aCa	p.I366T	AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.I366T|ZP2_ENST00000574091.1_Missense_Mutation_p.I366T			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	366					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		GTCTTTACCTATAGAAACGGG	0.418													G	21214448	A	G	21214448	3	3	535	1	0	0	0	0	1	0	0	0	18315	449	16	3	1180	3	ZP2	16	21214448	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08		21214448	69140305	25	47133											
PLEKHM1	9842	broad.mit.edu	37	chr17	43545910	43545910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtttcttggctcagtcCgttggttggcacagagttta	5	16	11	9	1	3	1	1	0	2	1	4	1	4	1	1	3	0	6	1	3	1	6			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr17:43545910C>T	ENST00000430334.3	-	5	1106	c.973G>A	c.(973-975)Gga>Aga	p.G325R	PLEKHM1_ENST00000421073.2_Missense_Mutation_p.G236R	NM_014798.2	NP_055613.1	Q9Y4G2	PKHM1_HUMAN	pleckstrin homology domain containing, family M (with RUN domain) member 1	325					intracellular signal transduction	cytoplasm	metal ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26	Renal(3;0.0405)					TGGCTCAGTCCGTTGGTTGGC	0.517													T	43545910	C	T	43545910	3	4	535	1	0	0	0	0	1	0	0	0	12157	661	23	1	2229	1	PLEKHM1	17	43545910	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08		43545910	37649300	26	47134											
MPPED1	758	broad.mit.edu	37	chr22	43821094	43821094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagtcccacgtgatggccGctcggcggcaccagcacagc	7	4	12	18	4	0	1	0	1	0	0	2	1	1	1	4	3	2	3	4	3	0	0			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chr22:43821094G>A	ENST00000417669.2	+	2	547	c.103G>A	c.(103-105)Gct>Act	p.A35T	MPPED1_ENST00000439548.1_Intron|MPPED1_ENST00000542779.1_Missense_Mutation_p.A35T|MPPED1_ENST00000443721.1_Missense_Mutation_p.A35T|MPPED1_ENST00000414469.2_Intron|MPPED1_ENST00000538182.1_Missense_Mutation_p.A68T			O15442	MPPD1_HUMAN	metallophosphoesterase domain containing 1								hydrolase activity			endometrium(3)|large_intestine(3)|lung(4)|prostate(2)|skin(1)	13		all_neural(38;0.0244)|Ovarian(80;0.0694)				CGTGATGGCCGCTCGGCGGCA	0.662													A	43821094	G	A	43821094	3	1	535	1	0	0	0	0	1	0	0	0	9817	1087	38	1	105	1	MPPED1	22	43821094	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08		43821094	7483472	27	47135											
NLGN4X	57502	broad.mit.edu	37	chrX	5811260	5811260	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttgaggaagaggagcgaCgccccgacggcaatggtgac	11	5	16	9	4	0	3	0	2	0	1	0	7	0	5	2	4	1	2	2	4	2	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:5811260C>T	ENST00000381095.3	-	6	2676	c.2049G>A	c.(2047-2049)gcG>gcA	p.A683A	NLGN4X_ENST00000381092.1_Silent_p.A683A|NLGN4X_ENST00000275857.6_Silent_p.A683A|NLGN4X_ENST00000538097.1_Silent_p.A683A|NLGN4X_ENST00000381093.2_Silent_p.A703A	NM_001282145.1|NM_001282146.1|NM_181332.1	NP_001269074.1|NP_001269075.1|NP_851849.1	Q8N0W4	NLGNX_HUMAN	neuroligin 4, X-linked	683					brainstem development|cell adhesion|cell-cell junction organization|cerebellum development|male courtship behavior|positive regulation of organ growth|regulation of excitatory postsynaptic membrane potential|social behavior|synapse assembly|territorial aggressive behavior|vocalization behavior	cell surface|dendrite|integral to plasma membrane|synapse	chloride ion binding|neurexin binding|protein homodimerization activity|receptor activity			breast(1)|cervix(2)|endometrium(4)|large_intestine(21)|lung(39)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	81						AGAGGAGCGACGCCCCGACGG	0.522													T	5811260	C	T	5811260	2	4	535	1	0	0	0	0	0	0	0	1	10540	523	19	1		1	NLGN4X	23	5811260	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08		5811260	149459300	28	47136											
FRMPD4	9758	broad.mit.edu	37	chrX	12720061	12720061	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatagccctgcggctggcCgcattacaaatgtacattgc	10	9	10	12	2	0	0	0	0	0	0	0	1	0	0	2	2	5	3	2	2	4	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:12720061C>T	ENST00000380682.1	+	10	1508	c.1002C>T	c.(1000-1002)gcC>gcT	p.A334A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	334	FERM.				positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TGCGGCTGGCCGCATTACAAA	0.507											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	12720061	C	T	12720061	2	4	535	1	0	0	0	0	0	0	0	1	6111	639	23	1		1	FRMPD4	23	12720061	Silent	SNP	C	TCGA-HT-7607-01A-11D-2086-08	6908801	12720061	142550499	29	47137											
OFD1	8481	broad.mit.edu	37	chrX	13786333	13786333	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggagcaagaccaggagtCggcagataaggtgccagtgc	12	4	16	9	1	0	2	0	0	0	2	1	4	0	4	2	4	3	3	2	4	2	1			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:13786333C>T	ENST00000380567.1	+	22	3370	c.2498C>T	c.(2497-2499)tCg>tTg	p.S833L	OFD1_ENST00000380550.3_Missense_Mutation_p.S933L|OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000340096.6_Missense_Mutation_p.S973L			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	973	Mediates the interaction with SDCCAG8.				cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GACCAGGAGTCGGCAGATAAG	0.478													T	13786333	C	T	13786333	3	4	535	1	0	0	0	0	1	0	0	0	10914	893	31	1	3000	1	OFD1	23	13786333	Missense_Mutation	SNP	C	TCGA-HT-7607-01A-11D-2086-08	1066272	13786333	141484227	30	47138											
PHF6	84295	broad.mit.edu	37	chrX	133527974	133527974	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acacaagaaaactgcacataActccgaaggtacatcattta	18	8	5	10	1	1	1	1	0	0	1	2	2	2	1	1	1	4	2	1	1	7	4			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:133527974A>G	ENST00000332070.3	+	5	612	c.410A>G	c.(409-411)aAc>aGc	p.N137S	PHF6_ENST00000416404.2_Missense_Mutation_p.N103S|PHF6_ENST00000370803.3_Missense_Mutation_p.N137S|PHF6_ENST00000394292.1_Missense_Mutation_p.N137S|PHF6_ENST00000370800.4_Missense_Mutation_p.N137S|PHF6_ENST00000370799.1_Missense_Mutation_p.N137S	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					ACTGCACATAACTCCGAAGGT	0.294			"F, N, Splice, Mis"		ETP ALL								G	133527974	A	G	133527974	3	3	535	1	0	0	0	0	1	0	0	0	11915	43	2	3	424	3	PHF6	23	133527974	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	119741641	133527974	21742586	31	47139											
GABRA3	2556	broad.mit.edu	37	chrX	151532994	151532994	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagaatattaatcaggaaaaGaatcccaaggctggtcatgt	16	9	10	6	0	2	2	2	0	0	2	3	4	3	3	1	3	0	1	1	3	7	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:151532994G>C	ENST00000370314.4	-	2	287	c.49C>G	c.(49-51)Ctt>Gtt	p.L17V	GABRA3_ENST00000535043.1_Missense_Mutation_p.L17V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	17					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	p.L17I(1)		breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	ATCAGGAAAAGAATCCCAAGG	0.453													C	151532994	G	C	151532994	3	2	535	1	0	0	0	0	1	0	0	0	6214	942	33	4	1465	4	GABRA3	23	151532994	Missense_Mutation	SNP	G	TCGA-HT-7607-01A-11D-2086-08	18005020	151532994	3737566	32	47140											
HCFC1	3054	broad.mit.edu	37	chrX	153228837	153228837	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatgtcccaggctaccActccagagcctggccgtaat	9	8	11	13	1	0	1	0	0	0	1	2	2	2	2	5	3	2	2	5	3	3	2			TCGA-HT-7607-01A-11D-2086-08	TCGA-HT-7607-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b3ce734-c2b6-4dc3-9c1c-6dfd5d3aa6b3	fc524be3-8c05-4dda-ab66-c466d0c2d64f	g.chrX:153228837A>C	ENST00000310441.7	-	4	1517	c.551T>G	c.(550-552)gTg>gGg	p.V184G	HCFC1_ENST00000369984.4_Missense_Mutation_p.V184G|HCFC1_ENST00000354233.3_Missense_Mutation_p.V184G	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	184					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGGCTACCACTCCAGAGCC	0.522													C	153228837	A	C	153228837	3	2	535	1	0	0	0	0	1	0	0	0	7046	159	6	5	5648	5	HCFC1	23	153228837	Missense_Mutation	SNP	A	TCGA-HT-7607-01A-11D-2086-08	1695843	153228837	2041723	33	47141											
FUBP1	8880	broad.mit.edu	37	chr1	78422268	78422269	+	Frame_Shift_Ins	INS	-	-	T																															gtagttaccttgtccattagINStttgagttgtagttggtgca																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:78422268_78422269insT	ENST00000370767.1	-	17	1780_1781	c.1693_1694insA	c.(1693-1695)actfs	p.T565fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.T565fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.T586fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	565					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTA	0.406			"F, N"		oligodendroglioma								T	78422269	-	T	78422268	7	5	536	1	0	1	1	0	0	0	0	0	6144	1029	36	0	256	0	FUBP1	1	78422268	Frame_Shift_Ins	INS	-	TCGA-HT-7608-01A-11D-2086-08		78422268	170828353	1	47142											
LMNA	4000	broad.mit.edu	37	chr1	156104684	156104684	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgagagccggctggcggAtgcgctgcaggaactgcggg	6	7	19	9	4	0	1	0	1	0	1	0	4	0	3	1	5	5	4	1	5	1	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:156104684A>G	ENST00000368300.4	+	4	940	c.728A>G	c.(727-729)gAt>gGt	p.D243G	LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000473598.2_Missense_Mutation_p.D144G|LMNA_ENST00000368299.3_Missense_Mutation_p.D243G|LMNA_ENST00000347559.2_Missense_Mutation_p.D243G|LMNA_ENST00000448611.2_Missense_Mutation_p.D131G|LMNA_ENST00000392353.3_Missense_Mutation_p.D162G|LMNA_ENST00000368297.1_Missense_Mutation_p.D162G|LMNA_ENST00000368301.2_Missense_Mutation_p.D243G|LMNA_ENST00000361308.4_Missense_Mutation_p.D243G	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	243	Coil 2.|Rod.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					CGGCTGGCGGATGCGCTGCAG	0.582									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				G	156104684	A	G	156104684	3	3	536	1	0	0	0	0	1	0	0	0	8909	333	12	3	742	3	LMNA	1	156104684	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	77682416	156104684	93145937	2	47143											
C1orf65	164127	broad.mit.edu	37	chr1	223567391	223567391	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcctcagttccctcggagCggtcttctgtgccctcgcaa	4	12	9	16	3	3	0	1	0	2	0	7	1	5	1	3	2	2	2	3	2	1	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr1:223567391C>T	ENST00000366875.3	+	1	677	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	192										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCCTCGGAGCGGTCTTCTGT	0.597													T	223567391	C	T	223567391	3	4	536	1	0	0	0	0	1	0	0	0	2076	759	27	1	576	1	C1orf65	1	223567391	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	67462707	223567391	25683230	3	47144											
BIRC6	57448	broad.mit.edu	37	chr2	32706407	32706407	+	Frame_Shift_Del	DEL	T	T	-																															ggtgcacctcctctgtcctcTttggaaaaagataaagaaat																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr2:32706407delT	ENST00000421745.2	+	38	7562	c.7428delT	c.(7426-7428)tctfs	p.S2476fs		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	2476					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					CTCTGTCCTCTTTGGAAAAAG	0.333													-	32706407	T	-	32706407	7	5	536	1	0	1	0	1	0	0	0	0	1444	1596	56	0	7578	0	BIRC6	2	32706407	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08		32706407	210492966	4	47145											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	536	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	176406705	209113112	34086261	5	47146											
TIGIT	201633	broad.mit.edu	37	chr3	114026861	114026861	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtccaggcagaagctgcAcctgctgggctctgtggaga	7	9	15	10	0	1	2	0	0	1	2	2	3	2	2	2	3	3	5	2	3	1	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114026861A>G	ENST00000481065.1	+	5	3434	c.819A>G	c.(817-819)gcA>gcG	p.A273A	TIGIT_ENST00000383671.3_Silent_p.A206A|TIGIT_ENST00000496848.1_3'UTR|TIGIT_ENST00000486257.1_Silent_p.A206A			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	206					negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						CAGAAGCTGCACCTGCTGGGC	0.572													G	114026861	A	G	114026861	2	3	536	1	0	0	0	0	0	0	0	1	16002	146	6	3		3	TIGIT	3	114026861	Silent	SNP	A	TCGA-HT-7608-01A-11D-2086-08		114026861	83995569	6	47147											
ZBTB20	26137	broad.mit.edu	37	chr3	114058211	114058211	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgtgtcaccatgtgctTgataaggtaatcctttaagg	9	15	11	6	0	1	1	1	1	0	0	2	1	2	1	2	2	1	2	2	2	3	5			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:114058211T>G	ENST00000462705.1	-	12	2469	c.1648A>C	c.(1648-1650)Aag>Cag	p.K550Q	ZBTB20_ENST00000481632.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000474710.1_Missense_Mutation_p.K623Q|ZBTB20_ENST00000464560.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000357258.3_Missense_Mutation_p.K550Q|ZBTB20_ENST00000471418.1_Missense_Mutation_p.K550Q|ZBTB20_ENST00000393785.2_Missense_Mutation_p.K550Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACCATGTGCTTGATAAGGTAA	0.527													G	114058211	T	G	114058211	3	3	536	1	0	0	0	0	1	0	0	0	17630	1821	63	5	362	5	ZBTB20	3	114058211	Missense_Mutation	SNP	T	TCGA-HT-7608-01A-11D-2086-08	31350	114058211	83964219	7	47148											
MUC13	56667	broad.mit.edu	37	chr3	124632003	124632003	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggtagccgggcacgcacGcacactcaggggccccacca	8	3	12	18	3	1	0	1	0	0	0	1	0	1	0	5	4	1	4	5	4	1	1	rs148368651		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr3:124632003G>A	ENST00000311075.3	-	8	1204	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V		NM_033049.3	NP_149038	Q9H3R2	MUC13_HUMAN	mucin 13, cell surface associated	389	EGF-like 3.					extracellular region|integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(6)|lung(5)|prostate(1)|skin(1)|stomach(1)	18						GGGCACGCACGCACACTCAGG	0.478													A	124632003	G	A	124632003	3	1	536	1	0	0	0	0	1	0	0	0	10047	1087	38	1	385	1	MUC13	3	124632003	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	10573792	124632003	73390427	8	47149											
OTOP1	133060	broad.mit.edu	37	chr4	4199681	4199681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggctgtcaactttgcGcccgatgttcttccacagga	7	12	10	12	2	2	1	1	1	1	0	3	3	3	2	2	2	2	2	2	2	1	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:4199681G>A	ENST00000296358.4	-	5	904	c.880C>T	c.(880-882)Cgc>Tgc	p.R294C		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development	extracellular space|integral to membrane		p.R294C(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		TCAACTTTGCGCCCGATGTTC	0.567													A	4199681	G	A	4199681	3	1	536	1	0	0	0	0	1	0	0	0	11381	1087	38	1	966	1	OTOP1	4	4199681	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		4199681	186954595	9	47150											
SLC34A2	10568	broad.mit.edu	37	chr4	25677957	25677957	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctctcgctggccggctggcgGgtgctggttggtgtcggggt	0	11	20	10	4	1	0	0	0	1	0	3	0	1	0	1	8	1	4	1	8	0	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:25677957G>A	ENST00000382051.3	+	13	1709	c.1659G>A	c.(1657-1659)cgG>cgA	p.R553R	SLC34A2_ENST00000504570.1_Silent_p.R552R|SLC34A2_ENST00000503434.1_Silent_p.R552R	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				CCGGCTGGCGGGTGCTGGTTG	0.597			T	ROS1	NSCLC								A	25677957	G	A	25677957	2	1	536	1	0	0	0	0	0	0	0	1	14662	1219	43	2		2	SLC34A2	4	25677957	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	21478276	25677957	165476319	10	47151											
UGT2B28	54490	broad.mit.edu	37	chr4	70146857	70146857	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcatggagagggtaaaaaaCatgatctatgtgctttattt	13	15	9	4	0	2	2	1	1	1	1	2	3	2	2	0	2	2	2	0	2	5	6			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr4:70146857C>T	ENST00000335568.5	+	1	641	c.639C>T	c.(637-639)aaC>aaT	p.N213N	UGT2B28_ENST00000511240.1_Silent_p.N213N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	213					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	GGGTAAAAAACATGATCTATG	0.348													T	70146857	C	T	70146857	2	4	536	1	0	0	0	0	0	0	0	1	17062	477	17	2		2	UGT2B28	4	70146857	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08	44468900	70146857	121007419	11	47152											
IL17F	112744	broad.mit.edu	37	chr6	52103580	52103580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgttacgtgacatggaaaCgcgctggttttcattgatga	10	13	12	6	3	1	3	1	3	0	0	1	5	1	4	0	2	2	3	0	2	2	4			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:52103580C>T	ENST00000336123.4	-	2	309	c.202G>A	c.(202-204)Gtt>Att	p.V68I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	68					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					GACATGGAAACGCGCTGGTTT	0.448													T	52103580	C	T	52103580	3	4	536	1	0	0	0	0	1	0	0	0	7696	536	19	1	297	1	IL17F	6	52103580	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		52103580	119011487	12	47153											
PTPRK	5796	broad.mit.edu	37	chr6	128297888	128297888	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttccacttggatggggccatAtcgtagcatcccttcctctg	6	13	9	13	1	1	0	0	0	1	0	5	1	4	1	4	3	1	2	4	3	2	5			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr6:128297888A>G	ENST00000368227.3	-	28	4300	c.3934T>C	c.(3934-3936)Tat>Cat	p.Y1312H	PTPRK_ENST00000368210.3_Missense_Mutation_p.Y1313H|PTPRK_ENST00000368207.3_Missense_Mutation_p.Y1327H|PTPRK_ENST00000368215.3_Missense_Mutation_p.Y1294H|PTPRK_ENST00000368213.5_Missense_Mutation_p.Y1301H|PTPRK_ENST00000532331.1_Missense_Mutation_p.Y1317H|PTPRK_ENST00000368226.4_Missense_Mutation_p.Y1295H			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1294	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATGGGGCCATATCGTAGCATC	0.398													G	128297888	A	G	128297888	3	3	536	1	0	0	0	0	1	0	0	0	12893	449	16	3	455	3	PTPRK	6	128297888	Missense_Mutation	SNP	A	TCGA-HT-7608-01A-11D-2086-08	76194308	128297888	42817179	13	47154											
AP1S1	1174	broad.mit.edu	37	chr7	100799992	100799992	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agctcatgcaggttgtcctgGctcgaaagcccaagatgtgc	9	9	12	11	1	1	1	1	0	0	1	3	2	2	1	2	2	4	4	2	2	2	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr7:100799992G>C	ENST00000337619.5	+	2	239	c.121G>C	c.(121-123)Gct>Cct	p.A41P		NM_001283.3	NP_001274.1	P61966	AP1S1_HUMAN	adaptor-related protein complex 1, sigma 1 subunit	41					intracellular protein transport|post-Golgi vesicle-mediated transport|receptor-mediated endocytosis|regulation of defense response to virus by virus|response to virus|viral reproduction	AP-1 adaptor complex|coated pit|cytosol|lysosomal membrane	protein binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)	8	Lung NSC(181;0.168)|all_lung(186;0.215)					GGTTGTCCTGGCTCGAAAGCC	0.537													C	100799992	G	C	100799992	3	2	536	1	0	0	0	0	1	0	0	0	738	1203	42	4	127	4	AP1S1	7	100799992	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		100799992	58338671	14	47155											
KCNK18	338567	broad.mit.edu	37	chr10	118957048	118957048	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatgctgcccagaggccCtgggaaagctcttccctggc	7	7	14	13	0	1	2	0	0	1	2	2	4	2	3	3	4	3	2	3	4	1	1			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr10:118957048C>T	ENST00000334549.1	+	1	49	c.49C>T	c.(49-51)Ctg>Ttg	p.L17L		NM_181840.1	NP_862823.1	Q7Z418	KCNKI_HUMAN	potassium channel, subfamily K, member 18	17						integral to membrane|plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(24)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	41		Colorectal(252;0.19)		all cancers(201;0.0211)		CCCAGAGGCCCTGGGAAAGCT	0.632													T	118957048	C	T	118957048	2	4	536	1	0	0	0	0	0	0	0	1	8123	680	24	2		2	KCNK18	10	118957048	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		118957048	16577699	15	47156											
PRPF40B	25766	broad.mit.edu	37	chr12	50036431	50036431	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcggagcggatccggctCttccgggagttcctacaggt	6	9	15	11	4	1	0	0	0	1	0	5	4	4	3	3	5	2	2	3	5	1	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:50036431C>G	ENST00000261897.1	+	20	2537	c.1986C>G	c.(1984-1986)ctC>ctG	p.L662L	PRPF40B_ENST00000380281.1_Silent_p.L675L|PRPF40B_ENST00000548825.2_Silent_p.L697L|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	675					mRNA processing|RNA splicing	nuclear speck				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						GGATCCGGCTCTTCCGGGAGT	0.557													G	50036431	C	G	50036431	2	3	536	1	0	0	0	0	0	0	0	1	12658	900	32	4		4	PRPF40B	12	50036431	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08		50036431	83815464	16	47157											
PRIM1	5557	broad.mit.edu	37	chr12	57136804	57136804	+	Frame_Shift_Del	DEL	T	T	-																															ggctaaaatcttatcccagcTttctttattttcgagaatat																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:57136804delT	ENST00000338193.6	-	7	751	c.715delA	c.(715-717)agcfs	p.S239fs		NM_000946.2	NP_000937.1	P49642	PRI1_HUMAN	primase, DNA, polypeptide 1 (49kDa)	239					DNA replication, synthesis of RNA primer|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	alpha DNA polymerase:primase complex|nucleoplasm	DNA primase activity|metal ion binding			kidney(1)|lung(6)|prostate(1)	8						TTATCCCAGCTTTCTTTATTT	0.299													-	57136804	T	-	57136804	7	5	536	1	0	1	0	1	0	0	0	0	12576	1609	56	0	575	0	PRIM1	12	57136804	Frame_Shift_Del	DEL	T	TCGA-HT-7608-01A-11D-2086-08	7100373	57136804	76715091	17	47158											
EIF2B1	1967	broad.mit.edu	37	chr12	124111689	124111689	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaccactctggagtaggcGtgagtcaatattgtctgtgg	9	11	14	7	1	3	1	1	1	2	0	3	3	3	3	1	4	0	1	1	4	3	3	rs146748240	byFrequency	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr12:124111689G>A	ENST00000424014.2	-	5	592	c.384C>T	c.(382-384)caC>caT	p.H128H	EIF2B1_ENST00000539951.1_Silent_p.H115H|EIF2B1_ENST00000537073.1_Silent_p.H128H	NM_001414.3	NP_001405.1	Q14232	EI2BA_HUMAN	eukaryotic translation initiation factor 2B, subunit 1 alpha, 26kDa	128					cellular response to stimulus|oligodendrocyte development|regulation of translational initiation|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex|membrane fraction|plasma membrane	protein binding|translation initiation factor activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.67e-05)|Epithelial(86;0.000353)|all cancers(50;0.00489)		TGGAGTAGGCGTGAGTCAATA	0.562													A	124111689	G	A	124111689	2	1	536	1	0	0	0	0	0	0	0	1	5039	1136	40	1		1	EIF2B1	12	124111689	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	66974885	124111689	9740206	18	47159											
TSHR	7253	broad.mit.edu	37	chr14	81609744	81609744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagccactacaaactgaacGtcccccgctttctcatgtgc	9	9	6	17	2	1	1	1	1	1	0	3	1	2	1	4	0	5	1	4	0	3	2	rs146403935	by1000genomes	TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr14:81609744G>A	ENST00000541158.2	+	11	1664	c.1342G>A	c.(1342-1344)Gtc>Atc	p.V448I	RP11-114N19.3_ENST00000557775.1_RNA|TSHR_ENST00000298171.2_Missense_Mutation_p.V448I			P16473	TSHR_HUMAN	thyroid stimulating hormone receptor	448					cell-cell signaling|positive regulation of cell proliferation	integral to plasma membrane	protein binding|thyroid-stimulating hormone receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(2)|stomach(1)|thyroid(291)|upper_aerodigestive_tract(1)	337				BRCA - Breast invasive adenocarcinoma(234;0.0402)	Thyrotropin Alfa(DB00024)	CAAACTGAACGTCCCCCGCTT	0.517			Mis		toxic thyroid adenoma	thyroid  adenoma	Hereditary nonautoimmune hyperthyroidism; subclinical hypothyroidism						A	81609744	G	A	81609744	3	1	536	1	0	0	0	0	1	0	0	0	16723	1145	40	1	1517	1	TSHR	14	81609744	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		81609744	25739796	19	47160											
BTBD1	53339	broad.mit.edu	37	chr15	83687454	83687457	+	Splice_Site	DEL	CTTA	CTTA	-																															ctggaacatagtgcatgactCttactttgagtgttgcacat																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:83687454_83687457delCTTA	ENST00000261721.4	-	7	1493		c.e7+1		BTBD1_ENST00000379403.2_Splice_Site|RP11-382A20.5_ENST00000566841.1_RNA|RP11-382A20.7_ENST00000570202.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1							cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTGCATGACTCTTACTTTGAGTGT	0.441													-	83687457	CTTA	-	83687454	8	5	536	1	0	1	0	1	0	0	1	0	1546	928	32	0		0	BTBD1	15	83687454	Splice_Site	DEL	CTTA	TCGA-HT-7608-01A-11D-2086-08		83687454	18843938	20	47161											
KLHL25	64410	broad.mit.edu	37	chr15	86312652	86312652	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcatcccgcacatcGtggaactgcagcatgtcgcc	8	6	12	15	4	0	0	0	0	0	0	3	1	1	1	2	2	4	5	2	2	1	0			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr15:86312652G>A	ENST00000337975.5	-	2	664	c.390C>T	c.(388-390)caC>caT	p.H130H	KLHL25_ENST00000536947.1_Silent_p.H130H|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	130						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CCCGCACATCGTGGAACTGCA	0.622													A	86312652	G	A	86312652	2	1	536	1	0	0	0	0	0	0	0	1	8438	1136	40	1		1	KLHL25	15	86312652	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08	2625198	86312652	16218740	21	47162											
MYH10	4628	broad.mit.edu	37	chr17	8449945	8449945	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgagtaaactccatcaCattcatcccaagaagatggc	13	7	8	13	1	2	2	2	0	0	2	4	3	4	2	3	2	1	1	3	2	4	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:8449945C>A	ENST00000360416.3	-	12	1333	c.1195G>T	c.(1195-1197)Gtg>Ttg	p.V399L	MYH10_ENST00000269243.4_Missense_Mutation_p.V389L|MYH10_ENST00000379980.4_Missense_Mutation_p.V405L|MYH10_ENST00000396239.1_Missense_Mutation_p.V389L	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	389	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						AACTCCATCACATTCATCCCA	0.433													A	8449945	C	A	8449945	3	1	536	1	0	0	0	0	1	0	0	0	10106	478	17	4	4889	4	MYH10	17	8449945	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		8449945	72745265	22	47163											
MYH8	4626	broad.mit.edu	37	chr17	10299697	10299697	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatttctcttgttctacttGcttctttattttctccaatt	6	23	2	10	0	4	0	0	0	4	0	6	0	4	0	1	0	2	2	1	0	3	11			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:10299697G>A	ENST00000403437.2	-	33	4697	c.4603C>T	c.(4603-4605)Caa>Taa	p.Q1535*	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1535					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGTTCTACTTGCTTCTTTATT	0.383									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10299697	G	A	10299697	4	1	536	1	0	0	0	0	0	1	0	0	10117	1328	46	2	1242	2	MYH8	17	10299697	Nonsense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	1849752	10299697	70895513	23	47164											
NF1	4763	broad.mit.edu	37	chr17	29562639	29562639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttctcaggatgaactagCtcgagttctggttactctgt	7	16	10	8	1	3	1	1	1	3	0	5	3	3	2	0	2	3	4	0	2	3	5			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:29562639C>G	ENST00000358273.4	+	28	4102	c.3719C>G	c.(3718-3720)gCt>gGt	p.A1240G	NF1_ENST00000356175.3_Missense_Mutation_p.A1240G	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1240	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGAACTAGCTCGAGTTCTG	0.383			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29562639	C	G	29562639	3	3	536	1	0	0	0	0	1	0	0	0	10432	797	28	4	3890	4	NF1	17	29562639	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	19262942	29562639	51632571	24	47165											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													T	39673185	C	T	39673185	3	4	536	1	0	0	0	0	1	0	0	0	8510	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08	10110546	39673185	41522025	25	47166											
POTEC	388468	broad.mit.edu	37	chr18	14543092	14543092	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatcttgctcctgagatcGaatggcttcttcacagcaga	9	11	8	13	1	3	2	1	1	2	2	5	4	4	2	2	1	2	3	2	1	1	3	rs45502401		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr18:14543092G>A	ENST00000358970.5	-	1	53	c.54C>T	c.(52-54)ttC>ttT	p.F18F	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	18										NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						TCCTGAGATCGAATGGCTTCT	0.572													A	14543092	G	A	14543092	2	1	536	1	0	0	0	0	0	0	0	1	12339	1049	37	1		1	POTEC	18	14543092	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08		14543092	63534156	26	47167											
DNM2	1785	broad.mit.edu	37	chr19	10908139	10908139	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagagccgagtttgaagtGtgttgatctcgtggtctcag	9	12	13	7	2	2	3	1	2	2	1	4	4	2	3	1	1	1	2	1	1	2	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:10908139G>T	ENST00000314646.5	+	10	1444	c.1280G>T	c.(1279-1281)tGt>tTt	p.C427F	DNM2_ENST00000355667.6_Intron|DNM2_ENST00000408974.4_Missense_Mutation_p.C427F|DNM2_ENST00000585892.1_Intron|DNM2_ENST00000389253.4_Missense_Mutation_p.C427F|DNM2_ENST00000359692.6_Intron			P50570	DYN2_HUMAN	dynamin 2	427					G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			AGTTTGAAGTGTGTTGATCTC	0.517			"F, N, Splice, Mis, O"		ETP ALL								T	10908139	G	T	10908139	3	4	536	1	0	0	0	0	1	0	0	0	4711	1377	48	4	1461	4	DNM2	19	10908139	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08		10908139	48220844	27	47168											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													A	12575498	G	A	12575498	3	1	536	1	0	0	0	0	1	0	0	0	18214	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	1667359	12575498	46553485	28	47169											
AXL	558	broad.mit.edu	37	chr19	41763470	41763470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgggcgtggagaacagcGagatttatgactatctgcgc	10	9	13	9	4	1	3	0	1	1	2	2	5	2	3	1	2	3	0	1	2	3	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:41763470G>A	ENST00000301178.4	+	19	2459	c.2269G>A	c.(2269-2271)Gag>Aag	p.E757K	AXL_ENST00000359092.3_Missense_Mutation_p.E748K|AXL_ENST00000593513.1_Missense_Mutation_p.E489K	NM_001278599.1|NM_021913.3	NP_001265528.1|NP_068713	P30530	UFO_HUMAN	AXL receptor tyrosine kinase	757	Protein kinase.					integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	48						GGAGAACAGCGAGATTTATGA	0.557													A	41763470	G	A	41763470	3	1	536	1	0	0	0	0	1	0	0	0	1243	1059	37	1	2343	1	AXL	19	41763470	Missense_Mutation	SNP	G	TCGA-HT-7608-01A-11D-2086-08	29187972	41763470	17365513	29	47170											
CIC	23152	broad.mit.edu	37	chr19	42792020	42792021	+	Frame_Shift_Del	DEL	AG	AG	-																															gtggtgcaacaaggaccgaaAgaagtccagctcagaggcca																										TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr19:42792020_42792021delAG	ENST00000572681.2	+	7	3619_3620	c.3551_3552delAG	c.(3550-3552)aagfs	p.K1185fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.K276fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K276fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	276	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGGACCGAAAGAAGTCCAGCT	0.649			"Mis, F, S"		oligodendroglioma								-	42792021	AG	-	42792020	7	5	536	1	0	1	0	1	0	0	0	0	3454	72	3	0	846	0	CIC	19	42792020	Frame_Shift_Del	DEL	AG	TCGA-HT-7608-01A-11D-2086-08	1028550	42792020	16336963	30	47171											
RIPK4	54101	broad.mit.edu	37	chr21	43161859	43161859	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactggtcctcatccttggcGttgacactgatcttccgcgc	5	12	9	15	3	2	2	1	2	1	0	5	2	5	2	3	2	0	1	3	2	0	3			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr21:43161859G>A	ENST00000352483.2	-	9	1702	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N	RIPK4_ENST00000542057.1_Silent_p.N435N|RIPK4_ENST00000544709.1_Silent_p.N435N|RIPK4_ENST00000332512.3_Silent_p.N498N			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	498						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CATCCTTGGCGTTGACACTGA	0.632													A	43161859	G	A	43161859	2	1	536	1	0	0	0	0	0	0	0	1	13474	1136	40	1		1	RIPK4	21	43161859	Silent	SNP	G	TCGA-HT-7608-01A-11D-2086-08		43161859	4968036	31	47172											
TOP3B	8940	broad.mit.edu	37	chr22	22322990	22322990	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaatagagaaaggcaaggaaCcttggcctgcagcacccagt	14	5	12	10	0	0	1	0	0	0	1	0	4	0	2	3	3	3	3	3	3	5	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:22322990C>A	ENST00000398793.2	-	7	1173		c.e7+1		TOP3B_ENST00000413067.2_Splice_Site|TOP3B_ENST00000357179.5_Splice_Site	NM_003935.3	NP_003926.1	O95985	TOP3B_HUMAN	topoisomerase (DNA) III beta						DNA topological change	nucleus	ATP binding|DNA topoisomerase type I activity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(4)|lung(9)|ovary(1)	26	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.145)		AGGCAAGGAACCTTGGCCTGC	0.552													A	22322990	C	A	22322990	5	1	536	1	0	0	0	0	0	0	1	0	16469	521	18	4	1897	4	TOP3B	22	22322990	Splice_Site	SNP	C	TCGA-HT-7608-01A-11D-2086-08		22322990	28981576	32	47173											
RASD2	23551	broad.mit.edu	37	chr22	35947956	35947956	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcgtcaaggagatggaCgcctatggcatggtctcgcc	7	7	14	13	5	2	1	1	0	1	1	3	3	2	2	3	4	0	1	3	4	2	1	rs144245051		TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chr22:35947956C>T	ENST00000216127.4	+	3	1320	c.678C>T	c.(676-678)gaC>gaT	p.D226D		NM_014310.3	NP_055125.2	Q96D21	RHES_HUMAN	RASD family, member 2	226	Interaction with GNB1, GNB2 and GNB3.				locomotory behavior|positive regulation of protein kinase B signaling cascade|positive regulation of protein sumoylation|regulation of cAMP-mediated signaling	intracellular|plasma membrane	G-protein beta-subunit binding|GTP binding|GTPase activity	p.D226D(1)		endometrium(2)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	13						AGGAGATGGACGCCTATGGCA	0.642													T	35947956	C	T	35947956	2	4	536	1	0	0	0	0	0	0	0	1	13155	535	19	1		1	RASD2	22	35947956	Silent	SNP	C	TCGA-HT-7608-01A-11D-2086-08	13624966	35947956	15356610	33	47174											
CACNA1F	778	broad.mit.edu	37	chrX	49063294	49063294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagcacgggggagtccctgCctgctcatctaggtaggaaa	9	8	14	10	1	2	1	1	1	1	0	3	3	3	3	2	4	3	3	2	4	3	2			TCGA-HT-7608-01A-11D-2086-08	TCGA-HT-7608-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89a5c656-38cc-4852-ac49-3a7ca6d164a0	1284b1b6-b9f7-4ee6-9ae2-f7da19f9deb6	g.chrX:49063294C>T	ENST00000376265.2	-	45	5348	c.5287G>A	c.(5287-5289)Gca>Aca	p.A1763T	CACNA1F_ENST00000323022.5_Missense_Mutation_p.A1752T|CACNA1F_ENST00000376251.1_Missense_Mutation_p.A1698T	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1763					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GGAGTCCCTGCCTGCTCATCT	0.637													T	49063294	C	T	49063294	3	4	536	1	0	0	0	0	1	0	0	0	2569	739	26	2	662	2	CACNA1F	23	49063294	Missense_Mutation	SNP	C	TCGA-HT-7608-01A-11D-2086-08		49063294	106207266	34	47175											
NPR1	4881	broad.mit.edu	37	chr1	153654206	153654206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accatcccagcatccttccaCgacgggctcctgctctatat	8	10	6	17	2	1	0	0	0	1	0	5	1	5	0	5	1	2	3	5	1	2	3	rs148390726		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:153654206C>T	ENST00000368680.3	+	4	1534	c.1062C>T	c.(1060-1062)caC>caT	p.H354H	NPR1_ENST00000413826.1_3'UTR	NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor A/guanylate cyclase A (atrionatriuretic peptide receptor A)	354					body fluid secretion|intracellular signal transduction|negative regulation of angiogenesis|negative regulation of cell growth|positive regulation of renal sodium excretion|positive regulation of urine volume|receptor guanylyl cyclase signaling pathway|regulation of blood pressure|regulation of blood vessel size|regulation of vascular permeability|regulation of vasodilation		ATP binding|GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|peptide receptor activity, G-protein coupled|protein kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Nesiritide(DB04899)|Nitric Oxide(DB00435)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	CATCCTTCCACGACGGGCTCC	0.582													T	153654206	C	T	153654206	2	4	537	1	0	0	0	0	0	0	0	1	10670	535	19	1		1	NPR1	1	153654206	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08		153654206	95596415	1	47176											
TNNI1	7135	broad.mit.edu	37	chr1	201382170	201382170	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagactcacctccctggtgTtgtggaggcatttggcctca	6	13	11	11	0	2	1	2	0	0	1	3	2	3	2	3	4	0	2	3	4	1	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr1:201382170T>C	ENST00000361379.4	-	6	361	c.269A>G	c.(268-270)aAc>aGc	p.N90S	TNNI1_ENST00000555948.1_Intron|TNNI1_ENST00000336092.4_Missense_Mutation_p.N90S|TNNI1_ENST00000367312.1_Missense_Mutation_p.N90S	NM_003281.3	NP_003272.3	P19237	TNNI1_HUMAN	troponin I type 1 (skeletal, slow)	90					muscle filament sliding|regulation of striated muscle contraction	cytosol|troponin complex	actin binding|tropomyosin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|skin(1)	8						CTCCCTGGTGTTGTGGAGGCA	0.622													C	201382170	T	C	201382170	3	2	537	1	0	0	0	0	1	0	0	0	16426	1725	60	3	306	3	TNNI1	1	201382170	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	47727964	201382170	47868451	2	47177											
TFCP2L1	29842	broad.mit.edu	37	chr2	121991692	121991692	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttgctgtctccactgccGtcccgcttctgctgcagggg	3	11	13	14	2	2	0	0	0	2	0	4	0	3	0	3	3	4	5	3	3	0	2	rs140466557	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:121991692G>A	ENST00000263707.5	-	12	1270	c.1173C>T	c.(1171-1173)gaC>gaT	p.D391D		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	391					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					CTCCACTGCCGTCCCGCTTCT	0.572													A	121991692	G	A	121991692	2	1	537	1	0	0	0	0	0	0	0	1	15896	1136	40	1		1	TFCP2L1	2	121991692	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		121991692	121207681	3	47178											
FKBP7	51661	broad.mit.edu	37	chr2	179341854	179341854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcgcttttctccagggcacAtatctgtcatagcaatgtct	8	15	7	11	1	4	0	1	0	3	0	6	0	4	0	1	1	1	3	1	1	3	5	rs144779588		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:179341854A>G	ENST00000424785.2	-	2	366	c.308T>C	c.(307-309)aTg>aCg	p.M103T	FKBP7_ENST00000464248.1_5'UTR|FKBP7_ENST00000434643.2_Missense_Mutation_p.M103T	NM_001135212.1|NM_181342.2	NP_001128684.1|NP_851939.1	Q9Y680	FKBP7_HUMAN	FK506 binding protein 7	103	PPIase FKBP-type.				protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			TCCAGGGCACATATCTGTCAT	0.393													G	179341854	A	G	179341854	3	3	537	1	0	0	0	0	1	0	0	0	5962	217	8	3	372	3	FKBP7	2	179341854	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	57350162	179341854	63857519	4	47179											
NCKAP1	10787	broad.mit.edu	37	chr2	183829476	183829476	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatgcaattgagtatctTgattgagagggtaactccaa	14	11	11	5	0	1	3	0	3	1	1	2	5	2	4	1	2	2	3	1	2	5	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:183829476T>C	ENST00000361354.4	-	17	2061	c.1689A>G	c.(1687-1689)tcA>tcG	p.S563S	NCKAP1_ENST00000360982.2_Silent_p.S569S	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TTGAGTATCTTGATTGAGAGG	0.323													C	183829476	T	C	183829476	2	2	537	1	0	0	0	0	0	0	0	1	10297	1799	63	3		3	NCKAP1	2	183829476	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08	4487622	183829476	59369897	5	47180											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	537	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	25283636	209113112	34086261	6	47181											
KLHL30	377007	broad.mit.edu	37	chr2	239059501	239059501	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcgcgctggtgccacTgggtgatgcgctgtacgtga	6	9	17	9	4	0	2	0	2	0	0	0	3	0	2	1	3	3	3	1	3	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr2:239059501T>C	ENST00000409223.1	+	8	1639	c.1532T>C	c.(1531-1533)cTg>cCg	p.L511P	KLHL30_ENST00000305959.4_Missense_Mutation_p.L493P			Q0D2K2	KLH30_HUMAN	kelch-like family member 30	511										lung(4)	4		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		CTGGTGCCACTGGGTGATGCG	0.662													C	239059501	T	C	239059501	3	2	537	1	0	0	0	0	1	0	0	0	8442	1580	55	3	1558	3	KLHL30	2	239059501	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	29946389	239059501	4139872	7	47182											
SLC34A2	10568	broad.mit.edu	37	chr4	25677849	25677849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccatccgcatggccaagggGctgggcaacatctctgccaa	9	6	11	15	1	1	0	0	0	1	0	3	0	2	0	4	4	2	3	4	4	3	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr4:25677849G>A	ENST00000382051.3	+	13	1601	c.1551G>A	c.(1549-1551)ggG>ggA	p.G517G	SLC34A2_ENST00000504570.1_Silent_p.G516G|SLC34A2_ENST00000503434.1_Silent_p.G516G	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	517					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				TGGCCAAGGGGCTGGGCAACA	0.577			T	ROS1	NSCLC								A	25677849	G	A	25677849	2	1	537	1	0	0	0	0	0	0	0	1	14662	1190	42	2		2	SLC34A2	4	25677849	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		25677849	165476427	8	47183											
MCCC2	64087	broad.mit.edu	37	chr5	70944989	70944989	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtgccaagatggtggccGctgtggcctgtgcccaagtg	6	9	16	10	1	0	1	0	0	0	1	0	1	0	1	4	4	2	1	4	4	2	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:70944989G>A	ENST00000340941.6	+	14	1411	c.1282G>A	c.(1282-1284)Gct>Act	p.A428T	MCCC2_ENST00000323375.8_Missense_Mutation_p.A390T	NM_022132.4	NP_071415.1	Q9HCC0	MCCB_HUMAN	methylcrotonoyl-CoA carboxylase 2 (beta)	428	Carboxyltransferase.				leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|methylcrotonoyl-CoA carboxylase activity			endometrium(2)|kidney(15)|large_intestine(2)|lung(9)|ovary(1)|urinary_tract(1)	30		Lung NSC(167;0.000697)|Prostate(74;0.0107)|Ovarian(174;0.0175)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;2.04e-54)	Biotin(DB00121)	GATGGTGGCCGCTGTGGCCTG	0.512													A	70944989	G	A	70944989	3	1	537	1	0	0	0	0	1	0	0	0	9450	1087	38	1	1336	1	MCCC2	5	70944989	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		70944989	109970271	9	47184											
SSBP2	23635	broad.mit.edu	37	chr5	80785076	80785076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acataaatcttacctgattaGgtatcctcaatgggggcctt	11	13	8	9	0	2	1	1	1	1	0	3	1	3	1	3	3	1	1	3	3	6	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:80785076G>T	ENST00000320672.4	-	6	635	c.425C>A	c.(424-426)cCt>cAt	p.P142H	SSBP2_ENST00000509053.1_Missense_Mutation_p.P112H|SSBP2_ENST00000515395.1_Missense_Mutation_p.P112H|SSBP2_ENST00000505980.1_Intron|SSBP2_ENST00000514493.1_Missense_Mutation_p.P112H	NM_001256732.1|NM_001256733.1|NM_012446.3	NP_001243661.1|NP_001243662.1|NP_036578.2	P81877	SSBP2_HUMAN	single-stranded DNA binding protein 2	142	Pro-rich.				regulation of transcription, DNA-dependent	cytoplasm|nucleus	single-stranded DNA binding		SSBP2/JAK2(4)	central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10		Lung NSC(167;0.00154)|all_lung(232;0.00179)|Ovarian(174;0.0338)		OV - Ovarian serous cystadenocarcinoma(54;1.07e-41)|Epithelial(54;2.79e-35)|all cancers(79;1.18e-29)		TACCTGATTAGGTATCCTCAA	0.328													T	80785076	G	T	80785076	3	4	537	1	0	0	0	0	1	0	0	0	15276	1000	35	4	708	4	SSBP2	5	80785076	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	9840087	80785076	100130184	10	47185											
PJA2	9867	broad.mit.edu	37	chr5	108717302	108717302	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctggtcatacatggtttaAaactgacataagcatgtctt	12	14	8	7	0	3	1	1	1	2	0	3	1	3	1	0	2	3	2	0	2	4	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:108717302A>C	ENST00000361189.2	-	3	373	c.134T>G	c.(133-135)tTt>tGt	p.F45C	PJA2_ENST00000511624.1_5'UTR|PJA2_ENST00000361557.3_Missense_Mutation_p.F45C	NM_014819.4	NP_055634.3	O43164	PJA2_HUMAN	praja ring finger 2, E3 ubiquitin protein ligase	45					long-term memory|regulation of protein kinase A signaling cascade	cell junction|endoplasmic reticulum membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	ligase activity|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(142;4.4e-06)|all_epithelial(76;8.17e-08)|Prostate(80;0.00676)|Lung NSC(167;0.0436)|Ovarian(225;0.0443)|all_lung(232;0.053)|Colorectal(57;0.0946)|Breast(839;0.151)		OV - Ovarian serous cystadenocarcinoma(64;3.46e-10)|Epithelial(69;6.02e-09)|COAD - Colon adenocarcinoma(37;0.224)		ACATGGTTTAAAACTGACATA	0.443													C	108717302	A	C	108717302	3	2	537	1	0	0	0	0	1	0	0	0	12039	14	1	5	2024	5	PJA2	5	108717302	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	27932226	108717302	72197958	11	47186											
FTMT	94033	broad.mit.edu	37	chr5	121188111	121188111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaagaagccggaacaggaCgactgggaaagcgggctgca	14	3	15	9	3	1	1	1	0	0	1	1	5	1	4	1	4	4	2	1	4	4	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:121188111C>T	ENST00000321339.1	+	1	462	c.453C>T	c.(451-453)gaC>gaT	p.D151D		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	151	Ferritin-like diiron.				cellular iron ion homeostasis|iron ion transport|positive regulation of cell proliferation|positive regulation of lyase activity|positive regulation of oxidoreductase activity|positive regulation of transferase activity	mitochondrion	ferric iron binding|ferroxidase activity	p.D151D(1)		NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CGGAACAGGACGACTGGGAAA	0.582													T	121188111	C	T	121188111	2	4	537	1	0	0	0	0	0	0	0	1	6137	535	19	1		1	FTMT	5	121188111	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08	12470809	121188111	59727149	12	47187											
PCDHB3	56132	broad.mit.edu	37	chr5	140482147	140482147	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgcgacgcggccaagcaCaggctggtggtgctggtcaa	8	5	17	11	4	1	0	1	0	0	0	1	2	1	0	1	5	3	3	1	5	2	0	rs144773246	byFrequency	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:140482147C>G	ENST00000231130.2	+	1	1914	c.1914C>G	c.(1912-1914)caC>caG	p.H638Q		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		638	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.H638Q(1)		NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CGGCCAAGCACAGGCTGGTGG	0.697													G	140482147	C	G	140482147	3	3	537	1	0	0	0	0	1	0	0	0	11619	477	17	4	1916	4	PCDHB3	5	140482147	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	19294036	140482147	40433113	13	47188											
CCDC69	26112	broad.mit.edu	37	chr5	150565607	150565607	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatatgtttcttatagtttcGgctcagaatggactcctcca	9	15	8	9	1	2	1	1	0	1	1	5	3	4	2	2	2	0	3	2	2	4	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr5:150565607G>A	ENST00000355417.2	-	6	646	c.472C>T	c.(472-474)Cga>Tga	p.R158*	CCDC69_ENST00000521308.1_5'UTR	NM_015621.2	NP_056436.2	A6NI79	CCD69_HUMAN	coiled-coil domain containing 69	158										haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|stomach(1)	9		Medulloblastoma(196;0.091)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TTATAGTTTCGGCTCAGAATG	0.557													A	150565607	G	A	150565607	4	1	537	1	0	0	0	0	0	1	0	0	2869	1124	39	1	434	1	CCDC69	5	150565607	Nonsense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	10083460	150565607	30349653	14	47189											
GRIK2	2898	broad.mit.edu	37	chr6	102372528	102372528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcaaccctgactcagacGtggtggaaaacaattttacc	12	10	8	11	1	1	2	1	1	0	1	1	3	1	3	2	2	4	1	2	2	5	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:102372528G>A	ENST00000369138.1	+	12	2291	c.1801G>A	c.(1801-1803)Gtg>Atg	p.V601M	GRIK2_ENST00000421544.1_Missense_Mutation_p.V601M|GRIK2_ENST00000318991.6_Missense_Mutation_p.V601M|GRIK2_ENST00000413795.1_Missense_Mutation_p.V601M|GRIK2_ENST00000369134.4_Missense_Mutation_p.V552M|GRIK2_ENST00000369137.3_Intron	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	601					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	TGACTCAGACGTGGTGGAAAA	0.418													A	102372528	G	A	102372528	3	1	537	1	0	0	0	0	1	0	0	0	6829	1145	40	1	1847	1	GRIK2	6	102372528	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		102372528	68742539	15	47190											
HECA	51696	broad.mit.edu	37	chr6	139487914	139487914	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcccaggagaaggcagtGggtgccgcagcctacggtgc	9	5	15	12	2	0	1	0	0	0	1	1	2	1	1	3	4	5	2	3	4	3	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr6:139487914G>T	ENST00000367658.2	+	2	1050	c.765G>T	c.(763-765)gtG>gtT	p.V255V	RP1-225E12.2_ENST00000588638.1_RNA|RP1-225E12.2_ENST00000415194.2_RNA|RP1-225E12.2_ENST00000590679.1_RNA|RP1-225E12.2_ENST00000586229.1_RNA|RP1-225E12.2_ENST00000589192.1_RNA|RP1-225E12.2_ENST00000587577.1_RNA|RP1-225E12.2_ENST00000588529.1_RNA|RP1-225E12.3_ENST00000585874.1_RNA|RP1-225E12.2_ENST00000586266.1_RNA	NM_016217.2	NP_057301.1	Q9UBI9	HDC_HUMAN	headcase homolog (Drosophila)	255					respiratory tube development					endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(68;0.000252)|OV - Ovarian serous cystadenocarcinoma(155;0.000387)		AGAAGGCAGTGGGTGCCGCAG	0.677													T	139487914	G	T	139487914	2	4	537	1	0	0	0	0	0	0	0	1	7093	1335	47	4		4	HECA	6	139487914	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	37115386	139487914	31627153	16	47191											
DOCK4	9732	broad.mit.edu	37	chr7	111624387	111624387	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagagctcagtaatgctgaTgtcttccggatccaccattg	9	12	10	10	1	2	2	1	1	1	1	4	3	4	3	3	1	2	4	3	1	2	4			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr7:111624387T>C	ENST00000428084.1	-	7	795	c.523A>G	c.(523-525)Atc>Gtc	p.I175V	DOCK4_ENST00000476846.1_5'UTR|DOCK4_ENST00000437633.1_Missense_Mutation_p.I175V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	175					cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GTAATGCTGATGTCTTCCGGA	0.463													C	111624387	T	C	111624387	3	2	537	1	0	0	0	0	1	0	0	0	4728	1464	51	3	5561	3	DOCK4	7	111624387	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		111624387	47514276	17	47192											
DLGAP2	9228	broad.mit.edu	37	chr8	1626416	1626416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctaacagcgtcacggcCgccgtccaagctgacctgga	8	7	11	15	5	2	1	1	1	1	0	3	2	3	2	4	2	3	2	4	2	2	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:1626416C>T	ENST00000421627.2	+	9	2219	c.2085C>T	c.(2083-2085)gcC>gcT	p.A695A		NM_004745.3	NP_004736.2	Q9P1A6	DLGP2_HUMAN	discs, large (Drosophila) homolog-associated protein 2	774					neuron-neuron synaptic transmission	cell junction|neurofilament|postsynaptic density|postsynaptic membrane	protein binding			breast(1)|endometrium(6)|lung(31)|prostate(3)	41		Ovarian(12;0.0271)|Hepatocellular(245;0.0838)|Colorectal(14;0.0846)		BRCA - Breast invasive adenocarcinoma(11;0.000169)|READ - Rectum adenocarcinoma(644;0.171)		GCGTCACGGCCGCCGTCCAAG	0.572													T	1626416	C	T	1626416	2	4	537	1	0	0	0	0	0	0	0	1	4599	639	23	1		1	DLGAP2	8	1626416	Silent	SNP	C	TCGA-HT-7609-01A-11D-2086-08		1626416	144737606	18	47193											
CSMD3	114788	broad.mit.edu	37	chr8	113504737	113504737	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgacaacttggcaaggcTctattccatccaggtcttcc	9	11	7	14	0	2	1	0	1	2	0	5	1	5	1	4	3	1	2	4	3	3	4			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:113504737T>C	ENST00000297405.5	-	31	5503	c.5259A>G	c.(5257-5259)agA>agG	p.R1753R	CSMD3_ENST00000455883.2_Silent_p.R1649R|CSMD3_ENST00000352409.3_Silent_p.R1753R|CSMD3_ENST00000343508.3_Silent_p.R1713R	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1753	Sushi 9.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGCAAGGCTCTATTCCATC	0.363										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113504737	T	C	113504737	2	2	537	1	0	0	0	0	0	0	0	1	3979	1548	54	3		3	CSMD3	8	113504737	Silent	SNP	T	TCGA-HT-7609-01A-11D-2086-08	111878321	113504737	32859285	19	47194											
GRINA	2907	broad.mit.edu	37	chr8	145066754	145066754	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagatcgtgtacgcctcacTgggcgctctgctcttcacct	5	11	11	14	3	4	1	2	0	2	1	5	2	4	1	2	2	2	3	2	2	1	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr8:145066754T>A	ENST00000313269.5	+	6	1222	c.944T>A	c.(943-945)cTg>cAg	p.L315Q	GRINA_ENST00000395068.4_Missense_Mutation_p.L315Q	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	315						integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TACGCCTCACTGGGCGCTCTG	0.617													A	145066754	T	A	145066754	3	1	537	1	0	0	0	0	1	0	0	0	6840	1580	55	5	962	5	GRINA	8	145066754	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08	31562017	145066754	1297268	20	47195											
TLN1	7094	broad.mit.edu	37	chr9	35715132	35715132	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgcgcagcccctcagctGcctcccgcagccgctgctgc	4	6	10	21	3	1	0	1	0	0	0	2	0	2	0	6	0	7	5	6	0	0	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr9:35715132G>T	ENST00000314888.9	-	21	3031	c.2678C>A	c.(2677-2679)gCa>gAa	p.A893E	TLN1_ENST00000540444.1_Missense_Mutation_p.A893E	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	893					axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCCCTCAGCTGCCTCCCGCAG	0.622													T	35715132	G	T	35715132	3	4	537	1	0	0	0	0	1	0	0	0	16047	1319	46	4	5095	4	TLN1	9	35715132	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		35715132	105498299	21	47196											
WEE1	7465	broad.mit.edu	37	chr11	9595595	9595597	+	In_Frame_Del	DEL	GAG	GAG	-																															actgtgaggaggaggaagaaGaggaggaggaggagggcagc																										TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr11:9595595_9595597delGAG	ENST00000450114.2	+	1	368_370	c.115_117delGAG	c.(115-117)gagdel	p.E43del		NM_003390.3	NP_003381.1	P30291	WEE1_HUMAN	WEE1 G2 checkpoint kinase	43	Poly-Glu.				blood coagulation|cell cycle checkpoint|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitosis|S phase of mitotic cell cycle	nucleoplasm	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|protein serine/threonine kinase activity	p.E39delE(1)		breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	23				all cancers(16;4.59e-09)|Epithelial(150;3.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0484)		ggaggaagaagaggaggaggagg	0.739													-	9595597	GAG	-	9595595	7	5	537	1	0	1	0	1	0	0	0	0	17446	943	33	0	117	0	WEE1	11	9595595	In_Frame_Del	DEL	GAG	TCGA-HT-7609-01A-11D-2086-08		9595595	125410921	22	47197											
PCBP2	5094	broad.mit.edu	37	chr12	53865444	53865444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggctgcataatcgggcGtcaaggcgccaaaatcaatg	12	8	12	9	3	2	0	2	0	0	0	3	1	2	0	1	3	1	2	1	3	5	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:53865444G>A	ENST00000603815.1	+	14	1264	c.914G>A	c.(913-915)cGt>cAt	p.R305H	PCBP2_ENST00000548933.1_Missense_Mutation_p.R275H|PCBP2_ENST00000455667.3_Missense_Mutation_p.R258H|PCBP2_ENST00000447282.1_Missense_Mutation_p.R275H|PCBP2_ENST00000359462.5_Missense_Mutation_p.R306H|PCBP2_ENST00000552819.1_Missense_Mutation_p.R262H|PCBP2_ENST00000437231.1_Missense_Mutation_p.R258H|PCBP2_ENST00000439930.3_Missense_Mutation_p.R305H|PCBP2_ENST00000359282.5_Missense_Mutation_p.R271H|PCBP2_ENST00000549863.1_Missense_Mutation_p.R261H|PCBP2_ENST00000546463.1_Missense_Mutation_p.R302H|PCBP2_ENST00000552296.2_Missense_Mutation_p.R301H	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	305	KH 3.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding	p.R306H(1)		central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						ATAATCGGGCGTCAAGGCGCC	0.498													A	53865444	G	A	53865444	3	1	537	1	0	0	0	0	1	0	0	0	11577	1145	40	1	967	1	PCBP2	12	53865444	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		53865444	79986451	23	47198											
LRP1	4035	broad.mit.edu	37	chr12	57601869	57601869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgccatcgactgggtggccGgaaacgtgtactggaccgac	8	7	14	12	5	0	0	0	0	0	0	2	4	0	2	3	4	2	1	3	4	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr12:57601869G>A	ENST00000243077.3	+	77	12374	c.11908G>A	c.(11908-11910)Gga>Aga	p.G3970R		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	3970					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CTGGGTGGCCGGAAACGTGTA	0.577													A	57601869	G	A	57601869	3	1	537	1	0	0	0	0	1	0	0	0	9021	1117	39	1	12214	1	LRP1	12	57601869	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	3736425	57601869	76250026	24	47199											
ATP12A	479	broad.mit.edu	37	chr13	25275010	25275010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcaatgatcgatccccctCggtccaccgtgccagatgca	8	9	9	15	3	1	2	1	1	0	1	5	3	3	2	5	1	2	1	5	1	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr13:25275010C>T	ENST00000218548.6	+	13	2182	c.1849C>T	c.(1849-1851)Cgg>Tgg	p.R617W	ATP12A_ENST00000381946.3_Missense_Mutation_p.R611W	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	611					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CGATCCCCCTCGGTCCACCGT	0.483													T	25275010	C	T	25275010	3	4	537	1	0	0	0	0	1	0	0	0	1127	875	31	1	1899	1	ATP12A	13	25275010	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		25275010	89894868	25	47200											
ATG2B	55102	broad.mit.edu	37	chr14	96798962	96798962	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagactatgagacatgtccAtatcagccatggagaagaat	16	8	10	7	0	1	4	1	1	0	4	2	7	2	4	2	1	1	0	2	1	4	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr14:96798962A>G	ENST00000359933.4	-	9	2131	c.1238T>C	c.(1237-1239)aTg>aCg	p.M413T		NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B	413										breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		AGACATGTCCATATCAGCCAT	0.378													G	96798962	A	G	96798962	3	3	537	1	0	0	0	0	1	0	0	0	1099	217	8	3	5134	3	ATG2B	14	96798962	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08		96798962	10550578	26	47201											
TTC23	64927	broad.mit.edu	37	chr15	99678265	99678265	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccccagcagggtgtcctgagGgatgctggtgcagaaggcca	8	6	16	11	0	0	2	0	1	0	1	1	3	1	3	4	4	3	3	4	4	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr15:99678265G>A	ENST00000394132.2	-	14	2111	c.1294C>T	c.(1294-1296)Cct>Tct	p.P432S	TTC23_ENST00000262074.4_Missense_Mutation_p.P432S|TTC23_ENST00000394135.3_Missense_Mutation_p.P432S|TTC23_ENST00000558613.1_Missense_Mutation_p.P432S|TTC23_ENST00000394136.1_Missense_Mutation_p.P432S|TTC23_ENST00000558663.1_Missense_Mutation_p.P432S			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	432							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			GTGTCCTGAGGGATGCTGGTG	0.607													A	99678265	G	A	99678265	3	1	537	1	0	0	0	0	1	0	0	0	16792	1232	43	2	53	2	TTC23	15	99678265	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		99678265	2853127	27	47202											
AMFR	267	broad.mit.edu	37	chr16	56423219	56423219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctgacacgattattgtcgGcaatattaagagacattctg	12	12	8	9	2	1	2	0	1	1	1	2	4	1	2	1	1	0	1	1	1	4	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr16:56423219G>A	ENST00000290649.5	-	9	1364	c.1154C>T	c.(1153-1155)gCc>gTc	p.A385V		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	385					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						ATTATTGTCGGCAATATTAAG	0.463													A	56423219	G	A	56423219	3	1	537	1	0	0	0	0	1	0	0	0	571	1203	42	2	801	2	AMFR	16	56423219	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08		56423219	33931534	28	47203											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	537	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08		7577120	73618090	29	47204											
TP53	7157	broad.mit.edu	37	chr17	7578176	7578176	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccccagttgcaaaccagaCctcaggcggctcatagggca	11	5	11	14	1	2	1	2	0	0	1	2	2	2	1	4	3	2	4	4	3	2	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:7578176C>T	ENST00000420246.2	-	6	805		c.e6+1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		GCAAACCAGACCTCAGGCGGC	0.527		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)			T	7578176	C	T	7578176	5	4	537	1	0	0	0	0	0	0	1	0	16482	521	18	2	621	2	TP53	17	7578176	Splice_Site	SNP	C	TCGA-HT-7609-01A-11D-2086-08	1056	7578176	73617034	30	47205											
WDR16	146845	broad.mit.edu	37	chr17	9546433	9546433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaacatcacacgcatccGcataagtccaggaaatcaat	15	7	7	12	2	2	0	2	0	0	0	4	1	4	1	2	2	1	3	2	2	4	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:9546433G>A	ENST00000352665.5	+	14	1850	c.1781G>A	c.(1780-1782)cGc>cAc	p.R594H	RP11-55L4.2_ENST00000584676.1_RNA|WDR16_ENST00000299764.5_Missense_Mutation_p.R604H|WDR16_ENST00000396219.3_Missense_Mutation_p.R526H	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	594						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACACGCATCCGCATAAGTCCA	0.453													A	9546433	G	A	9546433	3	1	537	1	0	0	0	0	1	0	0	0	17378	1087	38	1	1835	1	WDR16	17	9546433	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	1968257	9546433	71648777	31	47206											
KRT26	353288	broad.mit.edu	37	chr17	38926339	38926339	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcattcatctccacgttcacGttccccccagctgtatattg	7	13	6	15	2	3	0	2	0	1	0	5	0	4	0	4	0	1	5	4	0	2	6			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr17:38926339G>A	ENST00000335552.4	-	4	765	c.717C>T	c.(715-717)aaC>aaT	p.N239N		NM_181539.4	NP_853517.2	Q7Z3Y9	K1C26_HUMAN	keratin 26	239	Linker 12.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(5)	16		Breast(137;0.00526)				CCACGTTCACGTTCCCCCCAG	0.488													A	38926339	G	A	38926339	2	1	537	1	0	0	0	0	0	0	0	1	8521	1136	40	1		1	KRT26	17	38926339	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	29379906	38926339	42268871	32	47207											
POU2F2	5452	broad.mit.edu	37	chr19	42600387	42600387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggtcgggcagcgtagggcgGgtcacggcctggtggggtgg	3	6	24	8	4	1	0	1	0	0	0	2	0	1	0	1	9	1	2	1	9	1	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:42600387G>A	ENST00000342301.4	-	8	576	c.510C>T	c.(508-510)acC>acT	p.T170T	POU2F2_ENST00000389341.5_Intron|POU2F2_ENST00000560398.1_Intron|POU2F2_ENST00000560558.1_Intron|POU2F2_ENST00000529952.1_Silent_p.T170T|POU2F2_ENST00000533720.1_Intron|POU2F2_ENST00000526816.2_Silent_p.T170T|POU2F2_ENST00000529067.1_Intron			P09086	PO2F2_HUMAN	POU class 2 homeobox 2	170					humoral immune response|transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(5)|lung(4)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(69;0.059)				GCGTAGGGCGGGTCACGGCCT	0.711													A	42600387	G	A	42600387	2	1	537	1	0	0	0	0	0	0	0	1	12349	1247	43	2		2	POU2F2	19	42600387	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08		42600387	16528596	33	47208											
MYH14	79784	broad.mit.edu	37	chr19	50720927	50720927	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacaagcagcttcccatctAcacagaagccattgtggaga	13	8	9	11	0	1	2	0	0	1	2	2	3	2	2	2	1	5	3	2	1	4	4			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:50720927A>G	ENST00000440075.2	+	3	508	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	MYH14_ENST00000425460.1_Missense_Mutation_p.Y154C|MYH14_ENST00000596571.1_Missense_Mutation_p.Y154C|MYH14_ENST00000598205.1_Missense_Mutation_p.Y154C|MYH14_ENST00000601313.1_Missense_Mutation_p.Y154C|MYH14_ENST00000262269.8_Missense_Mutation_p.Y154C|MYH14_ENST00000376970.2_Missense_Mutation_p.Y154C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	154	Myosin head-like.				axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		CTTCCCATCTACACAGAAGCC	0.607													G	50720927	A	G	50720927	3	3	537	1	0	0	0	0	1	0	0	0	10109	391	14	3	467	3	MYH14	19	50720927	Missense_Mutation	SNP	A	TCGA-HT-7609-01A-11D-2086-08	8120540	50720927	8408056	34	47209											
LILRB2	10288	broad.mit.edu	37	chr19	54782405	54782405	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgagatgaagggtgtgcCacggatctgtcctggagaga	10	8	15	8	1	1	3	0	2	1	2	2	7	2	5	2	3	1	0	2	3	1	0			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr19:54782405C>A	ENST00000391748.1	-	7	1094	c.967G>T	c.(967-969)Ggc>Tgc	p.G323C	LILRB2_ENST00000434421.1_Missense_Mutation_p.G207C|LILRB2_ENST00000391746.1_Missense_Mutation_p.G323C|LILRB2_ENST00000314446.5_Missense_Mutation_p.G323C|LILRB2_ENST00000391749.4_Missense_Mutation_p.G323C	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	323					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		AAGGGTGTGCCACGGATCTGT	0.597													A	54782405	C	A	54782405	3	1	537	1	0	0	0	0	1	0	0	0	8851	594	21	4	861	4	LILRB2	19	54782405	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	4061478	54782405	4346578	35	47210											
SH3BP1	23616	broad.mit.edu	37	chr22	38039752	38039754	+	In_Frame_Del	DEL	AGG	AGG	-																															caacaaggtggagacgctgaAggaggaggaggaggagctga																										TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chr22:38039752_38039754delAGG	ENST00000599616.1	+	5	383_385	c.383_385delAGG	c.(382-387)aaggag>aag	p.E133del	SH3BP1_ENST00000336738.5_In_Frame_Del_p.E197del|Z83844.1_ENST00000456099.1_RNA|SH3BP1_ENST00000357436.4_In_Frame_Del_p.E197del|SH3BP1_ENST00000442465.2_In_Frame_Del_p.E197del|SH3BP1_ENST00000495174.1_3'UTR			Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	197	BAR.				signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					GAGACGCTGAAGGAGGAGGAGGA	0.606											OREG0026546	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	38039754	AGG	-	38039752	7	5	537	1	0	1	0	1	0	0	0	0	14337	72	3	0	601	0	SH3BP1	22	38039752	In_Frame_Del	DEL	AGG	TCGA-HT-7609-01A-11D-2086-08		38039752	13264814	36	47211											
EIF1AX	1964	broad.mit.edu	37	chrX	20156729	20156729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttacccctgcgtctgttttTacctcctttacctgatggtt	4	18	6	13	1	1	1	0	1	1	0	2	1	2	1	5	1	4	2	5	1	3	7			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:20156729T>C	ENST00000379607.5	-	2	231	c.28A>G	c.(28-30)Aaa>Gaa	p.K10E	EIF1AX_ENST00000379593.1_Intron	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	10						cytosol	translation initiation factor activity			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						CGTCTGTTTTTACCTCCTTTA	0.308													C	20156729	T	C	20156729	3	2	537	1	0	0	0	0	1	0	0	0	5031	1763	61	3	430	3	EIF1AX	23	20156729	Missense_Mutation	SNP	T	TCGA-HT-7609-01A-11D-2086-08		20156729	135113831	37	47212											
ITGB1BP2	26548	broad.mit.edu	37	chrX	70524875	70524875	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctcgggttgaaatctccctgGtcaaggctgacccaggatcc	8	9	11	13	1	2	2	1	2	1	0	5	3	3	3	3	4	0	2	3	4	2	1			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:70524875G>A	ENST00000538820.1	+	10	1163	c.823G>A	c.(823-825)Gtc>Atc	p.V275I	ITGB1BP2_ENST00000373829.3_Missense_Mutation_p.V293I			Q9UKP3	ITBP2_HUMAN	integrin beta 1 binding protein (melusin) 2	293	CS.				muscle organ development|signal transduction		SH3 domain binding			breast(1)|endometrium(5)|large_intestine(2)|lung(5)|ovary(1)	14	Renal(35;0.156)					AATCTCCCTGGTCAAGGCTGA	0.517													A	70524875	G	A	70524875	3	1	537	1	0	0	0	0	1	0	0	0	7950	1261	44	2	919	2	ITGB1BP2	23	70524875	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	50368146	70524875	84745685	38	47213											
PCDH19	57526	broad.mit.edu	37	chrX	99661766	99661766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcaaagaagccgcggtcGccctcggtcatgtcgtaggt	8	10	12	11	5	2	1	2	0	0	1	5	1	2	1	2	3	1	1	2	3	3	2			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:99661766G>A	ENST00000373034.4	-	1	3505	c.1830C>T	c.(1828-1830)ggC>ggT	p.G610G	PCDH19_ENST00000255531.7_Silent_p.G610G|PCDH19_ENST00000420881.2_Silent_p.G610G	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	610	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						AGCCGCGGTCGCCCTCGGTCA	0.562													A	99661766	G	A	99661766	2	1	537	1	0	0	0	0	0	0	0	1	11590	1074	38	1		1	PCDH19	23	99661766	Silent	SNP	G	TCGA-HT-7609-01A-11D-2086-08	29136891	99661766	55608794	39	47214											
OCRL	4952	broad.mit.edu	37	chrX	128710473	128710473	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggcacatccttagaggctCtgtgccgtatgaaaagacca	11	10	10	10	1	1	3	0	1	1	2	2	3	2	3	3	2	1	3	3	2	4	3			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:128710473C>G	ENST00000371113.4	+	18	2224	c.2059C>G	c.(2059-2061)Ctg>Gtg	p.L687V	OCRL_ENST00000357121.5_Missense_Mutation_p.L687V	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	687					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CTTAGAGGCTCTGTGCCGTAT	0.403													G	128710473	C	G	128710473	3	3	537	1	0	0	0	0	1	0	0	0	10899	912	32	4	2129	4	OCRL	23	128710473	Missense_Mutation	SNP	C	TCGA-HT-7609-01A-11D-2086-08	29048707	128710473	26560087	40	47215											
GPC3	2719	broad.mit.edu	37	chrX	133119384	133119386	+	In_Frame_Del	DEL	CGG	CGG	-																															acttggtgacaggtggcgtcCggcggcggcggcgggggctg																										TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:133119384_133119386delCGG	ENST00000370818.3	-	1	536_538	c.91_93delCCG	c.(91-93)ccgdel	p.P31del	GPC3_ENST00000543339.1_In_Frame_Del_p.P31del|GPC3_ENST00000394299.2_In_Frame_Del_p.P31del	NM_001164618.1|NM_004484.3	NP_001158090.1|NP_004475.1	P51654	GPC3_HUMAN	glypican 3	31						extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding|peptidyl-dipeptidase inhibitor activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|prostate(1)|skin(2)	36	Acute lymphoblastic leukemia(192;0.000127)					AGGTGGCGTCCGGCGGCGGCGGC	0.69			"T, D, Mis, N, F, S"			Wilms tumour			Simpson-Golabi-Behmel syndrome				-	133119386	CGG	-	133119384	7	5	537	1	0	1	0	1	0	0	0	0	6653	639	23	0	1754	0	GPC3	23	133119384	In_Frame_Del	DEL	CGG	TCGA-HT-7609-01A-11D-2086-08	4408911	133119384	22151176	41	47216											
SAGE1	55511	broad.mit.edu	37	chrX	134988660	134988660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgactcttcgaccacggcGtattaatatgacagacactg	11	11	9	10	3	1	3	0	2	1	1	2	4	1	3	1	1	0	2	1	1	3	5			TCGA-HT-7609-01A-11D-2086-08	TCGA-HT-7609-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d5f5c7e-e359-4788-8718-f7fc5164a30d	8f0035fe-017d-4cf6-81b8-79b90a6214c5	g.chrX:134988660G>A	ENST00000535938.1	+	7	853	c.686G>A	c.(685-687)cGt>cAt	p.R229H	SAGE1_ENST00000324447.3_Missense_Mutation_p.R229H|SAGE1_ENST00000370709.3_Missense_Mutation_p.R229H|SAGE1_ENST00000537770.1_Intron	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	229										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					CGACCACGGCGTATTAATATG	0.423													A	134988660	G	A	134988660	3	1	537	1	0	0	0	0	1	0	0	0	13900	1145	40	1	708	1	SAGE1	23	134988660	Missense_Mutation	SNP	G	TCGA-HT-7609-01A-11D-2086-08	1869276	134988660	20281900	42	47217											
F5	2153	broad.mit.edu	37	chr1	169519050	169519050	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaatacctgtattccttGcctgtccagggatctgctct	9	13	7	12	0	2	0	0	0	2	0	4	1	4	1	4	1	3	2	4	1	4	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:169519050G>A	ENST00000367796.3	-	10	1801	c.1600C>T	c.(1600-1602)Caa>Taa	p.Q534*	F5_ENST00000367797.3_Nonsense_Mutation_p.Q534*|F5_ENST00000546081.1_3'UTR			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	534	F5/8 type A 2.	Cleavage; by activated protein C.	R -> Q (in Leiden; associated with THR- APCR; associated with susceptibility to Budd-Chiari syndrome; associated with susceptibility to ischemic stroke; dbSNP:rs6025).		cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TGTATTCCTTGCCTGTCCAGG	0.428													A	169519050	G	A	169519050	4	1	538	1	0	0	0	0	0	1	0	0	5390	1328	46	2	5138	2	F5	1	169519050	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08		169519050	79731571	1	47218											
LAMC1	3915	broad.mit.edu	37	chr1	183087214	183087214	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaggcctgctcttaccccTtttgaatttcagaagctcct	7	14	8	12	0	2	2	1	1	1	1	3	3	3	3	4	2	3	2	4	2	3	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr1:183087214T>C	ENST00000258341.4	+	11	2180	c.1923T>C	c.(1921-1923)ccT>ccC	p.P641P		NM_002293.3	NP_002284.3	P11047	LAMC1_HUMAN	laminin, gamma 1 (formerly LAMB2)	641	Laminin IV type A.				axon guidance|cell migration|endoderm development|extracellular matrix disassembly|hemidesmosome assembly|positive regulation of epithelial cell proliferation|protein complex assembly|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	extracellular matrix structural constituent	p.P641P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(27)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	76					Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CTCTTACCCCTTTTGAATTTC	0.418													C	183087214	T	C	183087214	2	2	538	1	0	0	0	0	0	0	0	1	8673	1596	56	3		3	LAMC1	1	183087214	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08	13568164	183087214	66163407	2	47219											
ABCG5	64240	broad.mit.edu	37	chr2	44047075	44047075	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggaatccagatccaacaAgcacccccgcaatggacagc	14	4	9	14	1	0	2	0	1	0	1	2	4	2	4	4	2	3	2	4	2	4	0			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:44047075A>G	ENST00000543989.1	-	7	2148	c.443T>C	c.(442-444)cTt>cCt	p.L148P	ABCG5_ENST00000405322.1_Missense_Mutation_p.L372P|ABCG5_ENST00000260645.1_Missense_Mutation_p.L543P			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	543	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				AGATCCAACAAGCACCCCCGC	0.368													G	44047075	A	G	44047075	3	3	538	1	0	0	0	0	1	0	0	0	71	72	3	3	339	3	ABCG5	2	44047075	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		44047075	199152298	3	47220											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	538	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08	165066037	209113112	34086261	4	47221											
CPS1	1373	broad.mit.edu	37	chr2	211454894	211454894	+	Frame_Shift_Del	DEL	T	T	-																															caagatggagtatgatgggaTtttgatcgcgggaggaccgg																										TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:211454894delT	ENST00000233072.5	+	8	972	c.776delT	c.(775-777)attfs	p.I259fs	CPS1_ENST00000430249.2_Frame_Shift_Del_p.I265fs	NM_001875.4	NP_001866.2	P31327	CPSM_HUMAN	carbamoyl-phosphate synthase 1, mitochondrial	259	Glutamine amidotransferase type-1.				carbamoyl phosphate biosynthetic process|citrulline biosynthetic process|glutamine metabolic process|glycogen catabolic process|nitric oxide metabolic process|positive regulation of vasodilation|response to lipopolysaccharide|triglyceride catabolic process|urea cycle	mitochondrial nucleoid	ATP binding|carbamoyl-phosphate synthase (ammonia) activity			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(85)|ovary(8)|pancreas(1)|prostate(6)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	142				Epithelial(149;0.00697)|Lung(261;0.0521)|LUSC - Lung squamous cell carcinoma(261;0.0544)|all cancers(144;0.0843)		TATGATGGGATTTTGATCGCG	0.448													-	211454894	T	-	211454894	7	5	538	1	0	1	0	1	0	0	0	0	3854	1493	52	0	828	0	CPS1	2	211454894	Frame_Shift_Del	DEL	T	TCGA-HT-7610-01A-21D-2086-08	2341782	211454894	31744479	5	47222											
TRIP12	9320	broad.mit.edu	37	chr2	230668911	230668911	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctttcataagctgtgctcGagcatcatccttctttgact	7	16	6	12	1	4	1	2	1	2	0	6	2	5	1	1	0	3	3	1	0	1	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr2:230668911G>A	ENST00000283943.5	-	18	2636	c.2458C>T	c.(2458-2460)Cga>Tga	p.R820*	TRIP12_ENST00000389044.4_Nonsense_Mutation_p.R868*|TRIP12_ENST00000389045.3_Nonsense_Mutation_p.R550*|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	820	WWE.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		AGCTGTGCTCGAGCATCATCC	0.363													A	230668911	G	A	230668911	4	1	538	1	0	0	0	0	0	1	0	0	16657	1066	37	1	3616	1	TRIP12	2	230668911	Nonsense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	19214017	230668911	12530462	6	47223											
ASTE1	28990	broad.mit.edu	37	chr3	130732931	130732931	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggcctcactatgttcCtctaagttttcaaccattaa	10	15	6	10	0	3	0	2	0	1	0	4	1	4	1	3	2	1	2	3	2	4	7			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr3:130732931C>T	ENST00000264992.3	-	6	2451	c.2010G>A	c.(2008-2010)gaG>gaA	p.E670E	ASTE1_ENST00000514044.1_Silent_p.E695E|ATP2C1_ENST00000328560.8_Intron|ATP2C1_ENST00000507488.2_Intron|ATP2C1_ENST00000422190.2_Intron|ATP2C1_ENST00000513801.1_Intron|ATP2C1_ENST00000393221.4_Intron|ATP2C1_ENST00000533801.2_Intron|ATP2C1_ENST00000504381.1_Intron|ATP2C1_ENST00000359644.3_Intron	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	670					DNA repair		nuclease activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						CACTATGTTCCTCTAAGTTTT	0.393													T	130732931	C	T	130732931	2	4	538	1	0	0	0	0	0	0	0	1	1067	680	24	2		2	ASTE1	3	130732931	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08		130732931	67289499	7	47224											
LPHN3	23284	broad.mit.edu	37	chr4	62813869	62813869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattttggagctactccaagCgtacaatgacaggttattgg	11	12	10	8	1	0	1	0	1	0	0	1	2	1	2	1	3	4	3	1	3	5	6			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr4:62813869C>T	ENST00000512091.2	+	16	3223	c.2476C>T	c.(2476-2478)Cgt>Tgt	p.R826C	LPHN3_ENST00000507625.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506746.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506700.1_Missense_Mutation_p.R826C|LPHN3_ENST00000509896.1_Missense_Mutation_p.R894C|LPHN3_ENST00000545650.1_Missense_Mutation_p.R826C|LPHN3_ENST00000511324.1_Missense_Mutation_p.R894C|LPHN3_ENST00000507164.1_Missense_Mutation_p.R894C|LPHN3_ENST00000514157.1_Missense_Mutation_p.R826C|LPHN3_ENST00000508693.1_Missense_Mutation_p.R894C|LPHN3_ENST00000506720.1_Missense_Mutation_p.R894C|LPHN3_ENST00000508946.1_Missense_Mutation_p.R826C|LPHN3_ENST00000504896.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514591.1_Missense_Mutation_p.R826C|LPHN3_ENST00000514996.1_Missense_Mutation_p.R826C			Q9HAR2	LPHN3_HUMAN	latrophilin 3		GPS.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(21)|lung(73)|ovary(1)|pancreas(1)|prostate(6)|upper_aerodigestive_tract(1)	125						CTACTCCAAGCGTACAATGAC	0.388													T	62813869	C	T	62813869	3	4	538	1	0	0	0	0	1	0	0	0	8987	768	27	1	2530	1	LPHN3	4	62813869	Missense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		62813869	128340407	8	47225											
KCNU1	157855	broad.mit.edu	37	chr8	36721928	36721928	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcctattgcagtgccatCggtaaagagaatgaaaaaat	16	10	8	7	1	0	2	0	1	0	1	2	3	1	2	2	1	2	2	2	1	8	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:36721928C>A	ENST00000399881.3	+	19	1935	c.1898C>A	c.(1897-1899)tCg>tAg	p.S633*		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	633						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		GCAGTGCCATCGGTAAAGAGA	0.448													A	36721928	C	A	36721928	4	1	538	1	0	0	0	0	0	1	0	0	8151	893	31	4	1972	4	KCNU1	8	36721928	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		36721928	109642094	9	47226											
GPR124	25960	broad.mit.edu	37	chr8	37698691	37698691	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctggatctatttcctgtgCgccgggctacgcttacgggg	5	11	13	12	4	1	0	0	0	1	0	2	1	2	1	3	4	3	2	3	4	3	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr8:37698691C>T	ENST00000315215.7	+	16	2547	c.2184C>T	c.(2182-2184)tgC>tgT	p.C728C	GPR124_ENST00000412232.2_Silent_p.C945C			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	945	GPS.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ATTTCCTGTGCGCCGGGCTAC	0.627													T	37698691	C	T	37698691	2	4	538	1	0	0	0	0	0	0	0	1	6692	776	27	1		1	GPR124	8	37698691	Silent	SNP	C	TCGA-HT-7610-01A-21D-2086-08	976763	37698691	108665331	10	47227											
PAPOLA	10914	broad.mit.edu	37	chr14	97031339	97031339	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgctctccctgcaaaTcctattcctgttatcaagaa	10	13	4	14	0	2	1	1	0	1	1	6	1	5	1	4	0	2	3	4	0	5	3			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr14:97031339T>G	ENST00000216277.8	+	22	2410	c.2190T>G	c.(2188-2190)aaT>aaG	p.N730K	PAPOLA_ENST00000392990.2_Missense_Mutation_p.N709K	NM_032632.4	NP_116021.2	P51003	PAPOA_HUMAN	poly(A) polymerase alpha	730	Required for interaction with NUDT21.				mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cytoplasm|nucleoplasm	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|RNA binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(1)	21		all_cancers(154;0.0555)|all_epithelial(191;0.149)|Melanoma(154;0.155)		COAD - Colon adenocarcinoma(157;0.213)		TCCCTGCAAATCCTATTCCTG	0.373													G	97031339	T	G	97031339	3	3	538	1	0	0	0	0	1	0	0	0	11505	1432	50	5	2276	5	PAPOLA	14	97031339	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08		97031339	10318201	11	47228											
SLC12A1	6557	broad.mit.edu	37	chr15	48580649	48580649	+	Frame_Shift_Del	DEL	A	A	-																															taactctcagaaaaaaatggAaagactgtaaattaagaatc																										TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr15:48580649delA	ENST00000396577.3	+	23	3024	c.2809delA	c.(2809-2811)aaafs	p.K937fs	SLC12A1_ENST00000558405.1_Frame_Shift_Del_p.K937fs|SLC12A1_ENST00000380993.3_Frame_Shift_Del_p.K937fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	937					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	AAAAAAATGGAAAGACTGTAA	0.328													-	48580649	A	-	48580649	7	5	538	1	0	1	0	1	0	0	0	0	14476	247	9	0	2995	0	SLC12A1	15	48580649	Frame_Shift_Del	DEL	A	TCGA-HT-7610-01A-21D-2086-08		48580649	53950743	12	47229											
HBZ	3050	broad.mit.edu	37	chr16	202926	202926	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtctctgaccaagacTgagaggaccatcattgtgtc	10	10	10	11	0	2	3	1	2	1	2	4	5	2	4	3	1	0	0	3	1	1	1			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr16:202926T>C	ENST00000252951.2	+	1	241	c.18T>C	c.(16-18)acT>acC	p.T6T		NM_005332.2	NP_005323.1	P02008	HBAZ_HUMAN	hemoglobin, zeta	6						hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity						all_cancers(16;4.28e-07)|all_epithelial(16;2.09e-06)|Hepatocellular(16;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TGACCAAGACTGAGAGGACCA	0.612											OREG0003684	type=REGULATORY REGION|Gene=HBZ|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	C	202926	T	C	202926	2	2	538	1	0	0	0	0	0	0	0	1	7044	1567	55	3		3	HBZ	16	202926	Silent	SNP	T	TCGA-HT-7610-01A-21D-2086-08		202926	90151827	13	47230											
SENP3	26168	broad.mit.edu	37	chr17	7474041	7474041	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcggtaaagaaagacCgactggatttccaccagggc	13	5	13	10	2	0	3	0	0	0	3	1	5	1	4	3	4	0	1	3	4	3	2			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7474041C>T	ENST00000321337.7	+	10	1839	c.1519C>T	c.(1519-1521)Cga>Tga	p.R507*	SENP3_ENST00000429205.2_Nonsense_Mutation_p.R508*|SENP3_ENST00000578868.1_3'UTR|SENP3-EIF4A1_ENST00000579777.1_RNA	NM_015670.5	NP_056485.2	Q9H4L4	SENP3_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 3	508	Protease.				proteolysis	MLL1 complex|nucleolus	cysteine-type peptidase activity			central_nervous_system(1)|ovary(1)	2		Prostate(122;0.157)				AAAGAAAGACCGACTGGATTT	0.473													T	7474041	C	T	7474041	4	4	538	1	0	0	0	0	0	1	0	0	14141	644	23	1	1553	1	SENP3	17	7474041	Nonsense_Mutation	SNP	C	TCGA-HT-7610-01A-21D-2086-08		7474041	73721169	14	47231											
TP53	7157	broad.mit.edu	37	chr17	7577593	7577593	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagttgtagtggatggtggTacagtcagagccaacctagg	10	10	15	6	0	1	1	1	0	0	1	1	2	1	2	2	4	3	4	2	4	5	5			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7577593T>G	ENST00000420246.2	-	7	820	c.688A>C	c.(688-690)Acc>Ccc	p.T230P	TP53_ENST00000455263.2_Missense_Mutation_p.T230P|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.T230P|TP53_ENST00000269305.4_Missense_Mutation_p.T230P|TP53_ENST00000413465.2_Missense_Mutation_p.T230P|TP53_ENST00000359597.4_Missense_Mutation_p.T230P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	230	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in sporadic cancers; somatic mutation).|T -> I (in sporadic cancers; somatic mutation).|T -> N (in sporadic cancers; somatic mutation).|T -> P (in sporadic cancers; somatic mutation).|T -> S (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.0?(8)|p.?(5)|p.T230P(2)|p.T230fs*6(2)|p.T230S(2)|p.C229_H233delCTTIH(2)|p.T230fs*17(2)|p.T230fs*9(1)|p.T230_Y234delTTIHY(1)|p.C229_T230insX(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.C229_I232del(1)|p.S227_I232delSDCTTI(1)|p.T230A(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)		TGGATGGTGGTACAGTCAGAG	0.532		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)			G	7577593	T	G	7577593	3	3	538	1	0	0	0	0	1	0	0	0	16482	1638	57	5	602	5	TP53	17	7577593	Missense_Mutation	SNP	T	TCGA-HT-7610-01A-21D-2086-08	103552	7577593	73617617	15	47232											
TP53	7157	broad.mit.edu	37	chr17	7578507	7578507	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaacccacagctgcacaggGcaggtcttggccagttggca	9	7	12	13	0	2	0	1	0	1	0	2	0	2	0	2	4	3	5	2	4	1	2			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:7578507G>C	ENST00000420246.2	-	5	555	c.423C>G	c.(421-423)tgC>tgG	p.C141W	TP53_ENST00000455263.2_Missense_Mutation_p.C141W|TP53_ENST00000445888.2_Missense_Mutation_p.C141W|TP53_ENST00000269305.4_Missense_Mutation_p.C141W|TP53_ENST00000413465.2_Missense_Mutation_p.C141W|TP53_ENST00000359597.4_Missense_Mutation_p.C141W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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 LFS; 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.C141W(13)|p.C141*(11)|p.0?(8)|p.A138_P142delAKTCP(4)|p.C141C(4)|p.N131fs*27(2)|p.P142fs*7(1)|p.L137_W146del10(1)|p.C141A(1)|p.C9W(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.C48W(1)|p.C141_P142insXX(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)		GCTGCACAGGGCAGGTCTTGG	0.577		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)			C	7578507	G	C	7578507	3	2	538	1	0	0	0	0	1	0	0	0	16482	1195	42	4	875	4	TP53	17	7578507	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	914	7578507	73616703	16	47233											
KRT27	342574	broad.mit.edu	37	chr17	38936093	38936093	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcacgttgcctccagccgcGcactgaagagctttcatttc	7	12	8	14	3	2	2	2	1	0	1	4	2	3	2	3	0	3	3	3	0	1	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chr17:38936093G>A	ENST00000301656.3	-	4	745	c.705C>T	c.(703-705)tgC>tgT	p.C235C		NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	235	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				CTCCAGCCGCGCACTGAAGAG	0.483													A	38936093	G	A	38936093	2	1	538	1	0	0	0	0	0	0	0	1	8522	1079	38	1		1	KRT27	17	38936093	Silent	SNP	G	TCGA-HT-7610-01A-21D-2086-08	31357586	38936093	42259117	17	47234											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	538	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-HT-7610-01A-21D-2086-08		37028425	118242135	18	47235											
BCOR	54880	broad.mit.edu	37	chrX	39931690	39931690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcggtcacccacgtaacccGctgagttggcgattctcttt	7	12	9	13	4	2	1	1	1	1	0	4	2	2	1	2	2	1	3	2	2	1	4			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:39931690G>A	ENST00000342274.4	-	4	3271	c.2909C>T	c.(2908-2910)gCg>gTg	p.A970V	BCOR_ENST00000397354.3_Missense_Mutation_p.A970V|BCOR_ENST00000378444.4_Missense_Mutation_p.A970V|BCOR_ENST00000378455.4_Missense_Mutation_p.A970V	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	970					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CACGTAACCCGCTGAGTTGGC	0.527			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39931690	G	A	39931690	3	1	538	1	0	0	0	0	1	0	0	0	1391	1087	38	1	2406	1	BCOR	23	39931690	Missense_Mutation	SNP	G	TCGA-HT-7610-01A-21D-2086-08	2903265	39931690	115338870	19	47236											
ATRX	546	broad.mit.edu	37	chrX	76890083	76890083	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcatattcttcagctcttAcctgtaaagtcttaccaagg	10	15	5	11	0	5	0	2	0	3	0	5	0	5	0	2	1	3	2	2	1	6	7			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:76890083A>C	ENST00000373344.5	-	17	5024		c.e17+1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTCAGCTCTTACCTGTAAAGT	0.398			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76890083	A	C	76890083	5	2	538	1	0	0	0	0	0	0	1	0	1213	405	14	5	2743	5	ATRX	23	76890083	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	36958393	76890083	78380477	20	47237											
STAG2	10735	broad.mit.edu	37	chrX	123196967	123196967	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatctttatatttcacagtActctgtagatgcagaaaagg	13	14	8	6	0	3	3	1	1	2	2	3	3	3	3	0	1	2	3	0	1	6	6			TCGA-HT-7610-01A-21D-2086-08	TCGA-HT-7610-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a5d3919-f656-43ca-ab7a-e7df56b6cdbe	49080164-b5e3-47b2-a79a-784695523809	g.chrX:123196967A>T	ENST00000371160.1	+	19	2023	c.1733A>T	c.(1732-1734)tAc>tTc	p.Y578F	STAG2_ENST00000218089.9_Splice_Site_p.Y578F|STAG2_ENST00000371157.3_Splice_Site_p.Y578F|STAG2_ENST00000371144.3_Splice_Site_p.Y578F|STAG2_ENST00000371145.3_Splice_Site_p.Y578F|STAG2_ENST00000354548.5_Splice_Site_p.Y509F|STAG2_ENST00000469481.1_Intron	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	578					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						ATTTCACAGTACTCTGTAGAT	0.313													T	123196967	A	T	123196967	5	4	538	1	0	0	0	0	0	0	1	0	15339	405	14	5	1799	5	STAG2	23	123196967	Splice_Site	SNP	A	TCGA-HT-7610-01A-21D-2086-08	46306884	123196967	32073593	21	47238											
ATAD3C	219293	broad.mit.edu	37	chr1	1396282	1396282	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagtatgttcttaagccggCcacagaaggaaagcggtaag	13	7	13	8	3	1	1	0	0	1	1	1	3	1	2	2	3	2	3	2	3	5	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:1396282C>A	ENST00000378785.2	+	10	1960	c.965C>A	c.(964-966)gCc>gAc	p.A322D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	322							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		CTTAAGCCGGCCACAGAAGGA	0.627													A	1396282	C	A	1396282	3	1	539	1	0	0	0	0	1	0	0	0	1080	739	26	4	1003	4	ATAD3C	1	1396282	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		1396282	247854339	1	47239											
ARID1A	8289	broad.mit.edu	37	chr1	27056286	27056286	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacgggtcccagaccccgCagcggtacccgatgaccatg	9	5	11	16	4	0	2	0	1	0	1	1	3	1	2	5	2	3	2	5	2	2	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:27056286C>T	ENST00000324856.7	+	2	1653	c.1282C>T	c.(1282-1284)Cag>Tag	p.Q428*	ARID1A_ENST00000457599.2_Nonsense_Mutation_p.Q428*|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q45*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	428					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCAGACCCCGCAGCGGTACCC	0.607			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27056286	C	T	27056286	4	4	539	1	0	0	0	0	0	1	0	0	916	711	25	2	1288	2	ARID1A	1	27056286	Nonsense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	25660004	27056286	222194335	2	47240											
RNF19B	127544	broad.mit.edu	37	chr1	33402666	33402666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaggtttgctggccaggCagtctttctgttcacagctt	6	13	10	12	0	3	0	1	0	2	0	3	0	3	0	2	3	2	5	2	3	1	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:33402666C>T	ENST00000373456.7	-	9	1939	c.1940G>A	c.(1939-1941)tGc>tAc	p.C647Y	RNF19B_ENST00000235150.4_Missense_Mutation_p.C646Y|RNF19B_ENST00000356990.5_3'UTR	NM_153341.2	NP_699172.2	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	647						integral to membrane	ligase activity|protein binding|zinc ion binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				GCTGGCCAGGCAGTCTTTCTG	0.547													T	33402666	C	T	33402666	3	4	539	1	0	0	0	0	1	0	0	0	13562	710	25	2	262	2	RNF19B	1	33402666	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	6346380	33402666	215847955	3	47241											
LCE3C	353144	broad.mit.edu	37	chr1	152573380	152573380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgcctgagccaccacaGgcacttcaggtcccatcaat	9	8	8	16	0	2	1	2	1	0	0	3	1	3	1	4	2	3	2	4	2	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:152573380G>A	ENST00000333881.3	+	1	243	c.173G>A	c.(172-174)aGg>aAg	p.R58K		NM_178434.2	NP_848521.1	Q5T5A8	LCE3C_HUMAN	late cornified envelope 3C	58					keratinization					lung(1)	1	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0313)|Kidney(5;0.0367)		AGCCACCACAGGCACTTCAGG	0.642													A	152573380	G	A	152573380	3	1	539	1	0	0	0	0	1	0	0	0	8730	1000	35	2	175	2	LCE3C	1	152573380	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	119170714	152573380	96677241	4	47242											
SNAPIN	23557	broad.mit.edu	37	chr1	153633756	153633756	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctggattcgggaatttacccCcctggctccccaggcaaata	9	9	9	14	1	0	0	0	0	0	0	2	2	1	2	5	4	1	2	5	4	4	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr1:153633756C>T	ENST00000368685.5	+	4	480	c.390C>T	c.(388-390)ccC>ccT	p.P130P	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	130					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GAATTTACCCCCCTGGCTCCC	0.507													T	153633756	C	T	153633756	2	4	539	1	0	0	0	0	0	0	0	1	14933	610	22	2		2	SNAPIN	1	153633756	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08	1060376	153633756	95616865	5	47243											
SPTBN1	6711	broad.mit.edu	37	chr2	54853094	54853094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttgggtttgaccttcctgCagttgaggccgccacaaaaa	9	11	10	11	1	0	2	0	2	0	0	1	2	1	2	4	2	1	3	4	2	2	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:54853094C>T	ENST00000333896.5	+	11	1713	c.1328C>T	c.(1327-1329)gCa>gTa	p.A443V	SPTBN1_ENST00000356805.4_Missense_Mutation_p.A456V	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	456					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GACCTTCCTGCAGTTGAGGCC	0.522													T	54853094	C	T	54853094	3	4	539	1	0	0	0	0	1	0	0	0	15215	710	25	2	1522	2	SPTBN1	2	54853094	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		54853094	188346279	6	47244											
TTN	7273	broad.mit.edu	37	chr2	179417788	179417788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagcaaagtgactgtgcctcGagaaacatgtttaacctgta	13	10	10	8	1	0	2	0	1	0	1	1	4	0	2	2	0	4	3	2	0	4	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:179417788G>A	ENST00000589042.1	-	335	90063	c.89839C>T	c.(89839-89841)Cga>Tga	p.R29947*	TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.R21007*|TTN_ENST00000460472.2_Nonsense_Mutation_p.R20882*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.R21074*|TTN_ENST00000591111.1_Nonsense_Mutation_p.R28306*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.R27379*|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	28306	Fibronectin type-III 118.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTGCCTCGAGAAACATGT	0.423													A	179417788	G	A	179417788	4	1	539	1	0	0	0	0	0	1	0	0	16837	1066	37	1	18252	1	TTN	2	179417788	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	124564694	179417788	63781585	7	47245											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	539	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	29695325	209113113	34086260	8	47246											
AGAP1	116987	broad.mit.edu	37	chr2	236626276	236626276	+	Nonsense_Mutation	SNP	G	G	T																															cgggcacatatgtccaggagGagtctccggaaggtatgctg																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626276G>T	ENST00000304032.8	+	3	878	c.298G>T	c.(298-300)Gag>Tag	p.E100*	AGAP1_ENST00000409538.1_Nonsense_Mutation_p.E365*|AGAP1_ENST00000336665.5_Nonsense_Mutation_p.E100*|AGAP1_ENST00000409457.1_Nonsense_Mutation_p.E100*	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TGTCCAGGAGGAGTCTCCGGA	0.448													T	236626276	G	T	236626276	4	4	539	1	0	0	0	0	0	1	0	0	366	1175	41	4	308	4	AGAP1	2	236626276	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	27513163	236626276	6573097	9	47247	156	2									
AGAP1	116987	broad.mit.edu	37	chr2	236626277	236626277	+	Missense_Mutation	SNP	A	A	C																															gggcacatatgtccaggaggAgtctccggaaggtatgctgt																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr2:236626277A>C	ENST00000304032.8	+	3	879	c.299A>C	c.(298-300)gAg>gCg	p.E100A	AGAP1_ENST00000409538.1_Missense_Mutation_p.E365A|AGAP1_ENST00000336665.5_Missense_Mutation_p.E100A|AGAP1_ENST00000409457.1_Missense_Mutation_p.E100A	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						GTCCAGGAGGAGTCTCCGGAA	0.448													C	236626277	A	C	236626277	3	2	539	1	0	0	0	0	1	0	0	0	366	304	11	5	309	5	AGAP1	2	236626277	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08	1	236626277	6573096	10	47248	156	2									
PLEKHG4B	153478	broad.mit.edu	37	chr5	161918	161918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatcctgccagaaaggactAcagctggcgaaggagaaccc	14	4	11	12	1	0	2	0	0	0	2	1	5	1	3	3	3	4	1	3	3	5	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:161918A>G	ENST00000283426.6	+	10	1490	c.1440A>G	c.(1438-1440)ctA>ctG	p.L480L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	480					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		AGAAAGGACTACAGCTGGCGA	0.582													G	161918	A	G	161918	2	3	539	1	0	0	0	0	0	0	0	1	12149	378	14	3		3	PLEKHG4B	5	161918	Silent	SNP	A	TCGA-HT-7611-01A-11D-2395-08		161918	180753342	11	47249											
HAPLN1	1404	broad.mit.edu	37	chr5	82937364	82937364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catacagcttatgctttttaTctgggaaacccacgaagcgc	11	11	8	11	2	1	0	0	0	1	0	1	2	1	1	1	1	5	2	1	1	5	5			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr5:82937364T>A	ENST00000274341.4	-	5	1866	c.1016A>T	c.(1015-1017)gAt>gTt	p.D339V		NM_001884.3	NP_001875.1	P10915	HPLN1_HUMAN	hyaluronan and proteoglycan link protein 1	339	Link 2.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(12)|liver(1)|lung(15)|ovary(1)|prostate(1)|skin(1)	34		Lung NSC(167;0.0484)|all_lung(232;0.0522)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;7.82e-42)|Epithelial(54;5.88e-35)|all cancers(79;1.14e-29)		ATGCTTTTTATCTGGGAAACC	0.517													A	82937364	T	A	82937364	3	1	539	1	0	0	0	0	1	0	0	0	7009	1435	50	5	52	5	HAPLN1	5	82937364	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	82775446	82937364	97977896	12	47250											
KIAA0319	9856	broad.mit.edu	37	chr6	24566850	24566850	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggactctggccatccCggatccacagataggacaca	10	7	10	14	1	1	1	0	0	1	1	3	4	3	4	3	4	1	1	3	4	1	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:24566850C>A	ENST00000535378.1	-	15	2882	c.2240G>T	c.(2239-2241)cGg>cTg	p.R747L	KIAA0319_ENST00000430948.2_Missense_Mutation_p.R711L|KIAA0319_ENST00000543707.1_Missense_Mutation_p.R756L|KIAA0319_ENST00000378214.3_Missense_Mutation_p.R756L|KIAA0319_ENST00000537886.1_Missense_Mutation_p.R756L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	756	PKD 5.				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding			breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						CTGGCCATCCCGGATCCACAG	0.463													A	24566850	C	A	24566850	3	1	539	1	0	0	0	0	1	0	0	0	8226	652	23	4	983	4	KIAA0319	6	24566850	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		24566850	146548217	13	47251											
HIST1H4C	8364	broad.mit.edu	37	chr6	26104327	26104327	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgcatttccggtcttaTctatgaggagactcgaggtg	9	11	12	9	3	2	2	0	1	2	1	4	4	3	2	1	3	1	1	1	3	3	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr6:26104327T>C	ENST00000377803.2	+	1	224	c.152T>C	c.(151-153)aTc>aCc	p.I51T		NM_003542.3	NP_003533.1	P62805	H4_HUMAN	histone cluster 1, H4c	51					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|skin(1)	7						TCCGGTCTTATCTATGAGGAG	0.542													C	26104327	T	C	26104327	3	2	539	1	0	0	0	0	1	0	0	0	7222	1435	50	3	154	3	HIST1H4C	6	26104327	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1537477	26104327	145010740	14	47252											
EPHB6	2051	broad.mit.edu	37	chr7	142568143	142568143	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagataccctgcaggctggCggggacccaggggaaaggtc	9	4	16	12	1	0	1	0	0	0	1	1	3	0	3	3	7	2	2	3	7	2	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr7:142568143C>T	ENST00000392957.2	+	18	3571	c.2784C>T	c.(2782-2784)ggC>ggT	p.G928G	EPHB6_ENST00000442129.1_Silent_p.G928G|EPHB6_ENST00000476059.1_3'UTR|EPHB6_ENST00000411471.2_Silent_p.G651G	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	928						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TGCAGGCTGGCGGGGACCCAG	0.582													T	142568143	C	T	142568143	2	4	539	1	0	0	0	0	0	0	0	1	5219	755	27	1		1	EPHB6	7	142568143	Silent	SNP	C	TCGA-HT-7611-01A-11D-2395-08		142568143	16570520	15	47253											
TRPM6	140803	broad.mit.edu	37	chr9	77377091	77377091	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcttgttgagttatcagatAgggagctgtcctgggcctgc	7	13	13	8	0	2	2	1	1	1	1	3	3	3	3	2	2	2	3	2	2	2	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:77377091A>G	ENST00000451710.3	-	26	4733	c.4496T>C	c.(4495-4497)cTa>cCa	p.L1499P	TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Missense_Mutation_p.L1499P|TRPM6_ENST00000360774.1_Missense_Mutation_p.L1499P|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.L1494P|TRPM6_ENST00000449912.2_Missense_Mutation_p.L1494P			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1499					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						GTTATCAGATAGGGAGCTGTC	0.507													G	77377091	A	G	77377091	3	3	539	1	0	0	0	0	1	0	0	0	16691	420	15	3	1628	3	TRPM6	9	77377091	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		77377091	63836340	16	47254											
OR1Q1	158131	broad.mit.edu	37	chr9	125377695	125377695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcatcctggtggtcctcCggatcccctcagccaagggc	6	8	11	16	1	2	0	2	0	0	0	6	1	6	1	6	4	1	1	6	4	1	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:125377695C>T	ENST00000297913.2	+	1	748	c.679C>T	c.(679-681)Cgg>Tgg	p.R227W	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	227					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GGTGGTCCTCCGGATCCCCTC	0.537													T	125377695	C	T	125377695	3	4	539	1	0	0	0	0	1	0	0	0	11047	643	23	1	681	1	OR1Q1	9	125377695	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	48000604	125377695	15835736	17	47255											
ABO	28	broad.mit.edu	37	chr9	136131727	136131727	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgtctccaggaacagctTcaggaaagccacgtatctgc	10	7	10	14	3	3	0	1	0	2	0	4	2	3	2	3	2	4	2	3	2	3	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr9:136131727T>C	ENST00000453660.2	-	0	401							P16442	BGAT_HUMAN	ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)						protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	fucosylgalactoside 3-alpha-galactosyltransferase activity|glycoprotein-fucosylgalactoside alpha-N-acetylgalactosaminyltransferase activity|metal ion binding			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|prostate(1)|stomach(2)	11				OV - Ovarian serous cystadenocarcinoma(145;5.82e-06)|Epithelial(140;3.45e-05)		AGGAACAGCTTCAGGAAAGCC	0.701													C	136131727	T	C	136131727	1	2	539	0	1	0	0	0	0	0	0	0	97	1792	62	3		3	ABO	9	136131727	RNA	SNP	T	TCGA-HT-7611-01A-11D-2395-08	10754032	136131727	5081704	18	47256											
CDC42BPG	55561	broad.mit.edu	37	chr11	64603009	64603009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagctgctctcgcagggCggccacctccttcctcagtt	4	10	9	18	2	2	0	1	0	1	0	6	0	5	0	5	2	2	4	5	2	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr11:64603009C>T	ENST00000342711.5	-	15	1842	c.1843G>A	c.(1843-1845)Gcc>Acc	p.A615T		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	615					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						TCTCGCAGGGCGGCCACCTCC	0.692													T	64603009	C	T	64603009	3	4	539	1	0	0	0	0	1	0	0	0	3104	768	27	1	2904	1	CDC42BPG	11	64603009	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08		64603009	70403507	19	47257											
FOXM1	2305	broad.mit.edu	37	chr12	2983282	2983283	+	Frame_Shift_Del	DEL	GA	GA	-																															ctggtttgggtttgaggccgGagtcctggaggctgagttgg																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr12:2983282_2983283delGA	ENST00000342628.2	-	2	475_476	c.362_363delTC	c.(361-363)ctcfs	p.L121fs	FOXM1_ENST00000537018.1_5'UTR|FOXM1_ENST00000361953.3_Frame_Shift_Del_p.L121fs|FOXM1_ENST00000359843.3_Frame_Shift_Del_p.L121fs	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	121					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TTTGAGGCCGGAGTCCTGGAGG	0.54													-	2983283	GA	-	2983282	7	5	539	1	0	1	0	1	0	0	0	0	6069	1161	41	0	2078	0	FOXM1	12	2983282	Frame_Shift_Del	DEL	GA	TCGA-HT-7611-01A-11D-2395-08		2983282	130868613	20	47258											
STOML3	161003	broad.mit.edu	37	chr13	39564828	39564828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgaaattctctttatcttGcttctcaggtgaagacaccc	10	13	6	12	1	3	2	1	1	3	1	5	3	3	2	1	1	1	1	1	1	3	5	rs147878470		TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr13:39564828G>A	ENST00000379631.4	-	1	375	c.31C>T	c.(31-33)Caa>Taa	p.Q11*	STOML3_ENST00000423210.1_5'UTR	NM_145286.2	NP_660329.1	Q8TAV4	STML3_HUMAN	stomatin (EPB72)-like 3	11						integral to membrane|plasma membrane				breast(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	11		Lung NSC(96;1.42e-05)|Prostate(109;0.00851)|Breast(139;0.0199)|Lung SC(185;0.0743)		all cancers(112;2.93e-08)|Epithelial(112;3.64e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00107)|BRCA - Breast invasive adenocarcinoma(63;0.00349)|GBM - Glioblastoma multiforme(144;0.0137)		TCTTTATCTTGCTTCTCAGGT	0.388													A	39564828	G	A	39564828	4	1	539	1	0	0	0	0	0	1	0	0	15411	1328	46	2	901	2	STOML3	13	39564828	Nonsense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39564828	75605050	21	47259											
DLK1	8788	broad.mit.edu	37	chr14	101200659	101200659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacattgggggcgacttccGctgccggtgcccagccggct	4	8	15	14	4	0	1	0	1	0	0	1	2	1	1	4	4	3	2	4	4	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr14:101200659G>A	ENST00000341267.4	+	5	820	c.578G>A	c.(577-579)cGc>cAc	p.R193H	DLK1_ENST00000331224.6_Missense_Mutation_p.R193H	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	193	EGF-like 5.				multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				GGCGACTTCCGCTGCCGGTGC	0.662													A	101200659	G	A	101200659	3	1	539	1	0	0	0	0	1	0	0	0	4603	1087	38	1	596	1	DLK1	14	101200659	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08		101200659	6148881	22	47260											
CHRM5	1133	broad.mit.edu	37	chr15	34356257	34356257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccagacactgagtgccAttctcctggccttcatcatc	8	10	7	16	0	3	2	2	1	1	1	5	2	3	2	4	1	2	0	4	1	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:34356257A>G	ENST00000383263.5	+	3	2009	c.1339A>G	c.(1339-1341)Att>Gtt	p.I447V	CHRM5_ENST00000557872.1_Missense_Mutation_p.I447V	NM_012125.3	NP_036257.1	P08912	ACM5_HUMAN	cholinergic receptor, muscarinic 5	447					cell proliferation|inhibition of adenylate cyclase activity by muscarinic acetylcholine receptor signaling pathway	cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	20		all_lung(180;1.76e-08)		all cancers(64;4.82e-17)|GBM - Glioblastoma multiforme(113;2.58e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0262)	Atropine(DB00572)|Benzquinamide(DB00767)|Cryptenamine(DB00785)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Thiethylperazine(DB00372)	ACTGAGTGCCATTCTCCTGGC	0.512													G	34356257	A	G	34356257	3	3	539	1	0	0	0	0	1	0	0	0	3410	217	8	3	1341	3	CHRM5	15	34356257	Missense_Mutation	SNP	A	TCGA-HT-7611-01A-11D-2395-08		34356257	68175135	23	47261											
CASC5	57082	broad.mit.edu	37	chr15	40915064	40915064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctattgtattttcagaagacGataagaatgatatggatatc	15	14	8	4	1	1	4	1	1	0	3	2	6	1	5	0	1	0	1	0	1	7	8			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr15:40915064G>A	ENST00000346991.5	+	11	3070	c.2680G>A	c.(2680-2682)Gat>Aat	p.D894N	CASC5_ENST00000527044.1_3'UTR|CASC5_ENST00000399668.2_Missense_Mutation_p.D868N			Q8NG31	CASC5_HUMAN	cancer susceptibility candidate 5	894	2 X 104 AA approximate repeats.				acrosome assembly|attachment of spindle microtubules to kinetochore|cell division|CenH3-containing nucleosome assembly at centromere|mitotic prometaphase|spindle assembly checkpoint	acrosomal vesicle|condensed chromosome kinetochore|cytosol|nucleoplasm	protein binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(13)|lung(16)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_cancers(109;2.03e-18)|all_epithelial(112;4.26e-15)|Lung NSC(122;1.12e-10)|all_lung(180;2.59e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;4.99e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0861)|COAD - Colon adenocarcinoma(120;0.211)		TTCAGAAGACGATAAGAATGA	0.333													A	40915064	G	A	40915064	3	1	539	1	0	0	0	0	1	0	0	0	2689	1058	37	1	2718	1	CASC5	15	40915064	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	6558807	40915064	61616328	24	47262											
GPRC5B	51704	broad.mit.edu	37	chr16	19883181	19883181	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggccttgttctccatataGgcccgcggcagctgcacgtc	7	9	11	14	3	1	0	0	0	1	0	3	0	1	0	3	3	2	4	3	3	3	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883181G>C	ENST00000300571.2	-	2	1178	c.987C>G	c.(985-987)gcC>gcG	p.A329A	GPRC5B_ENST00000535671.1_Silent_p.A329A|GPRC5B_ENST00000537135.1_Silent_p.A355A|GPRC5B_ENST00000569479.1_Silent_p.A329A|GPRC5B_ENST00000569847.1_Silent_p.A329A	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	329										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						TCTCCATATAGGCCCGCGGCA	0.597													C	19883181	G	C	19883181	2	2	539	1	0	0	0	0	0	0	0	1	6780	987	35	4		4	GPRC5B	16	19883181	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		19883181	70471572	25	47263											
GPRC5B	51704	broad.mit.edu	37	chr16	19883826	19883826	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctcgtcctcctggatGatgaaggcaaacgtcagccc	9	9	11	12	2	2	2	1	2	1	0	5	3	4	3	3	3	2	1	3	3	2	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:19883826G>T	ENST00000300571.2	-	2	533	c.342C>A	c.(340-342)atC>atA	p.I114I	GPRC5B_ENST00000535671.1_Silent_p.I114I|GPRC5B_ENST00000537135.1_Silent_p.I140I|GPRC5B_ENST00000569479.1_Silent_p.I114I|GPRC5B_ENST00000569847.1_Silent_p.I114I	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, family C, group 5, member B	114										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CCTCCTGGATGATGAAGGCAA	0.612													T	19883826	G	T	19883826	2	4	539	1	0	0	0	0	0	0	0	1	6780	1280	45	4		4	GPRC5B	16	19883826	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08	645	19883826	70470927	26	47264											
CHD9	80205	broad.mit.edu	37	chr16	53348818	53348818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacctcaaggaattcctgaTacagaaagtccagttccagt	14	9	7	11	0	1	2	1	1	0	1	4	3	4	3	4	1	2	1	4	1	5	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr16:53348818T>A	ENST00000566029.1	+	36	7607	c.7398T>A	c.(7396-7398)gaT>gaA	p.D2466E	CHD9_ENST00000447540.1_Missense_Mutation_p.D2467E|CHD9_ENST00000564845.1_Missense_Mutation_p.D2466E|CHD9_ENST00000398510.3_Missense_Mutation_p.D2482E			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	2482	Binds A/T-rich DNA.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GAATTCCTGATACAGAAAGTC	0.398													A	53348818	T	A	53348818	3	1	539	1	0	0	0	0	1	0	0	0	3362	1403	49	5	7536	5	CHD9	16	53348818	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	33464992	53348818	37005935	27	47265											
TP53	7157	broad.mit.edu	37	chr17	7577081	7577081	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcttgcggagattctctTcctctgtgcgccggtctctc	2	16	9	14	3	4	1	0	0	4	1	8	2	5	1	2	2	2	0	2	2	0	4			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7577081T>C	ENST00000420246.2	-	8	989	c.857A>G	c.(856-858)gAa>gGa	p.E286G	TP53_ENST00000269305.4_Missense_Mutation_p.E286G|TP53_ENST00000359597.4_Missense_Mutation_p.E286G|TP53_ENST00000455263.2_Missense_Mutation_p.E286G|TP53_ENST00000445888.2_Missense_Mutation_p.E286G|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	286	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		E -> A (in LFS; germline mutation and in sporadic cancers; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (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.E286G(18)|p.E286V(9)|p.0?(8)|p.?(2)|p.E286fs*17(2)|p.R283fs*16(2)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.T284fs*57(1)|p.T284_G293del10(1)|p.E285_L289delEEENL(1)|p.E286A(1)|p.R283fs*56(1)|p.E285fs*13(1)|p.V272_K292del21(1)|p.E285_N288delEEEN(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)		GAGATTCTCTTCCTCTGTGCG	0.562		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)			C	7577081	T	C	7577081	3	2	539	1	0	0	0	0	1	0	0	0	16482	1783	62	3	429	3	TP53	17	7577081	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08		7577081	73618129	28	47266											
TP53	7157	broad.mit.edu	37	chr17	7578266	7578266	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaatttccttccactcggaTaagatgctgaggaggggcca	11	9	11	10	1	0	2	0	1	0	1	3	4	2	4	3	4	1	1	3	4	2	3			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:7578266T>A	ENST00000420246.2	-	6	715	c.583A>T	c.(583-585)Atc>Ttc	p.I195F	TP53_ENST00000269305.4_Missense_Mutation_p.I195F|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.I195F|TP53_ENST00000455263.2_Missense_Mutation_p.I195F|TP53_ENST00000445888.2_Missense_Mutation_p.I195F|TP53_ENST00000413465.2_Missense_Mutation_p.I195F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	195	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in a sporadic cancer; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (in a sporadic cancer; somatic mutation).|I -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.I195F(20)|p.0?(8)|p.?(6)|p.I195fs*14(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.I102F(1)|p.I195fs*52(1)|p.L194fs*52(1)|p.I63fs*14(1)|p.I195fs*50(1)|p.I102fs*14(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.I195L(1)|p.P98_E105>Q(1)|p.I63F(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.H193_I195>AP(1)|p.I195fs*12(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)		TCCACTCGGATAAGATGCTGA	0.557		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)			A	7578266	T	A	7578266	3	1	539	1	0	0	0	0	1	0	0	0	16482	1406	49	5	711	5	TP53	17	7578266	Missense_Mutation	SNP	T	TCGA-HT-7611-01A-11D-2395-08	1185	7578266	73616944	29	47267											
IFI35	3430	broad.mit.edu	37	chr17	41166236	41166236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttccagaagcccacccgcGggggcggggaggtagaggcc	8	3	17	13	3	0	2	0	0	0	2	1	3	1	3	4	6	1	1	4	6	2	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr17:41166236G>A	ENST00000415816.2	+	7	1004	c.781G>A	c.(781-783)Ggg>Agg	p.G261R	IFI35_ENST00000438323.2_Missense_Mutation_p.G263R	NM_005533.4	NP_005524.2	P80217	IN35_HUMAN	interferon-induced protein 35	261					response to virus|type I interferon-mediated signaling pathway	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	8		Breast(137;0.00499)		BRCA - Breast invasive adenocarcinoma(366;0.157)		GCCCACCCGCGGGGGCGGGGA	0.622													A	41166236	G	A	41166236	3	1	539	1	0	0	0	0	1	0	0	0	7574	1116	39	1	813	1	IFI35	17	41166236	Missense_Mutation	SNP	G	TCGA-HT-7611-01A-11D-2395-08	33587970	41166236	40028974	30	47268											
CYP4F8	11283	broad.mit.edu	37	chr19	15734031	15734031	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcactccctgtggacggcGcttccacagggcctgcagac	6	7	11	17	2	1	1	1	0	0	1	3	2	3	2	4	3	1	2	4	3	0	1			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:15734031G>A	ENST00000441682.2	+	0	825							P98187	CP4F8_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 8						prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|skin(1)	26						TGTGGACGGCGCTTCCACAGG	0.562													A	15734031	G	A	15734031	1	1	539	0	1	0	0	0	0	0	0	0	4224	1087	38	1		1	CYP4F8	19	15734031	RNA	SNP	G	TCGA-HT-7611-01A-11D-2395-08		15734031	43394952	31	47269											
FCGBP	8857	broad.mit.edu	37	chr19	40366226	40366226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtcggtggcggagatcaCgccgcaggcgtccgggccgc	4	4	18	15	8	1	1	1	0	0	1	3	2	2	1	4	5	0	1	4	5	0	0			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chr19:40366226C>T	ENST00000221347.6	-	30	14015	c.14008G>A	c.(14008-14010)Gtg>Atg	p.V4670M		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4670	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GCGGAGATCACGCCGCAGGCG	0.726													T	40366226	C	T	40366226	3	4	539	1	0	0	0	0	1	0	0	0	5827	536	19	1	2237	1	FCGBP	19	40366226	Missense_Mutation	SNP	C	TCGA-HT-7611-01A-11D-2395-08	24632195	40366226	18762757	32	47270											
BCOR	54880	broad.mit.edu	37	chrX	39932880	39932880	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatctgcattggcattgggGgcgggtgatgcggaggctgg	5	9	19	8	2	1	1	0	1	1	0	1	2	1	2	1	7	2	3	1	7	0	2			TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:39932880G>T	ENST00000342274.4	-	4	2081	c.1719C>A	c.(1717-1719)gcC>gcA	p.A573A	BCOR_ENST00000378444.4_Silent_p.A573A|BCOR_ENST00000397354.3_Silent_p.A573A|BCOR_ENST00000378455.4_Silent_p.A573A	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	573					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGGCATTGGGGGCGGGTGATG	0.617			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39932880	G	T	39932880	2	4	539	1	0	0	0	0	0	0	0	1	1391	1219	43	4		4	BCOR	23	39932880	Silent	SNP	G	TCGA-HT-7611-01A-11D-2395-08		39932880	115337680	33	47271											
ATRX	546	broad.mit.edu	37	chrX	76938601	76938605	+	Frame_Shift_Del	DEL	AATTT	AATTT	-																															ctgattgcttagattttggcAatttattaggcttaggatta																										TCGA-HT-7611-01A-11D-2395-08	TCGA-HT-7611-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b60b581b-2e7d-4c89-af6f-2de8cf79bcd7	cbdff4de-7729-4d99-b9be-f4807a99630f	g.chrX:76938601_76938605delAATTT	ENST00000373344.5	-	9	2357_2361	c.2143_2147delAAATT	c.(2143-2148)aaattgfs	p.KL715fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KL677fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	715					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)	AGATTTTGGCAATTTATTAGGCTTA	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938605	AATTT	-	76938601	7	5	539	1	0	1	0	1	0	0	0	0	1213	131	5	0	5439	0	ATRX	23	76938601	Frame_Shift_Del	DEL	AATTT	TCGA-HT-7611-01A-11D-2395-08	37005721	76938601	78331959	34	47272											
PAFAH2	5051	broad.mit.edu	37	chr1	26311003	26311003	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggccagctccatgcagaAggctgaatacaaagtcctgg	12	7	12	10	0	0	3	0	2	0	1	2	3	2	3	3	3	3	3	3	3	4	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:26311003A>G	ENST00000374282.3	-	5	537	c.358T>C	c.(358-360)Ttc>Ctc	p.F120L	PAFAH2_ENST00000374284.1_Missense_Mutation_p.F120L|PAFAH2_ENST00000493892.1_5'UTR	NM_000437.3	NP_000428.2	Q99487	PAFA2_HUMAN	platelet-activating factor acetylhydrolase 2, 40kDa	120					lipid catabolic process	cytoplasm	1-alkyl-2-acetylglycerophosphocholine esterase activity|phospholipid binding			NS(1)|kidney(2)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	9		Colorectal(325;3.47e-05)|Lung NSC(340;6.23e-05)|all_lung(284;9.48e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-25)|Colorectal(126;3.57e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00717)|READ - Rectum adenocarcinoma(331;0.0649)		TCCATGCAGAAGGCTGAATAC	0.522													G	26311003	A	G	26311003	3	3	540	1	0	0	0	0	1	0	0	0	11463	72	3	3	848	3	PAFAH2	1	26311003	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		26311003	222939618	1	47273											
CACHD1	57685	broad.mit.edu	37	chr1	65141193	65141193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacgaaacctgcgactctcTtgccttctgtgcctgcagca	8	10	8	15	2	2	0	0	0	2	0	3	2	2	0	3	0	7	2	3	0	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:65141193T>C	ENST00000371073.2	+	20	2837	c.2837T>C	c.(2836-2838)cTt>cCt	p.L946P	CACHD1_ENST00000290039.5_Missense_Mutation_p.L895P|CACHD1_ENST00000495994.1_3'UTR			Q5VU97	CAHD1_HUMAN	cache domain containing 1	946	Cys-rich.				calcium ion transport	integral to membrane				breast(4)|endometrium(3)|kidney(3)|large_intestine(20)|lung(14)|ovary(2)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						TGCGACTCTCTTGCCTTCTGT	0.478											OREG0013544	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	65141193	T	C	65141193	3	2	540	1	0	0	0	0	1	0	0	0	2563	1609	56	3	2762	3	CACHD1	1	65141193	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	38830190	65141193	184109428	2	47274											
FUBP1	8880	broad.mit.edu	37	chr1	78432569	78432570	+	Splice_Site	INS	-	-	G																															atgagaatgtaacattaccaINSggagctatctgtattttgca																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:78432569_78432570insG	ENST00000370767.1	-	6	500_501	c.413_414insC	c.(412-414)cct>ccCt	p.P138fs	FUBP1_ENST00000436586.2_Splice_Site_p.P159fs|FUBP1_ENST00000370768.2_Splice_Site_p.P138fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	138	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TAACATTACCAGGAGCTATCTG	0.312			"F, N"		oligodendroglioma								G	78432570	-	G	78432569	8	5	540	1	0	1	1	0	0	0	1	0	6144	202	7	0	1580	0	FUBP1	1	78432569	Splice_Site	INS	-	TCGA-HT-7616-01A-11D-2253-08	13291376	78432569	170818052	3	47275											
ELTD1	64123	broad.mit.edu	37	chr1	79470843	79470843	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttcacattttgcatttggGagacaaggtgtcttggtgca	9	15	11	6	0	2	1	1	0	1	1	2	2	2	1	0	3	2	2	0	3	1	5			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:79470843G>C	ENST00000370742.3	-	2	147	c.84C>G	c.(82-84)ctC>ctG	p.L28L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	28	EGF-like 1.				neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TTGCATTTGGGAGACAAGGTG	0.343													C	79470843	G	C	79470843	2	2	540	1	0	0	0	0	0	0	0	1	5125	1161	41	4		4	ELTD1	1	79470843	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1038274	79470843	169779778	4	47276											
SLC44A3	126969	broad.mit.edu	37	chr1	95307657	95307657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagtgcgtgctggggtttGctatcgtatccacaggcatc	7	12	13	9	2	0	1	0	1	0	0	3	1	1	1	1	3	3	5	1	3	3	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:95307657G>A	ENST00000271227.6	+	8	964	c.862G>A	c.(862-864)Gct>Act	p.A288T	SLC44A3_ENST00000527077.1_Missense_Mutation_p.A220T|SLC44A3_ENST00000530397.1_3'UTR|SLC44A3_ENST00000467909.1_Missense_Mutation_p.A240T|SLC44A3_ENST00000446120.2_Missense_Mutation_p.A252T|SLC44A3_ENST00000529450.1_Missense_Mutation_p.A256T|SLC44A3_ENST00000532427.1_Missense_Mutation_p.A208T|RP11-465K1.2_ENST00000422162.1_RNA	NM_001114106.2|NM_001258340.1|NM_001258341.1	NP_001107578.1|NP_001245269.1|NP_001245270.1	Q8N4M1	CTL3_HUMAN	solute carrier family 44, member 3	288						integral to membrane|plasma membrane	choline transmembrane transporter activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|prostate(2)|stomach(1)|urinary_tract(1)	23		all_lung(203;0.000712)|Lung NSC(277;0.00316)		all cancers(265;0.039)|Epithelial(280;0.124)	Choline(DB00122)	GCTGGGGTTTGCTATCGTATC	0.448													A	95307657	G	A	95307657	3	1	540	1	0	0	0	0	1	0	0	0	14731	1319	46	2	892	2	SLC44A3	1	95307657	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	15836814	95307657	153942964	5	47277											
NTRK1	4914	broad.mit.edu	37	chr1	156845863	156845863	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctaccgtctgaccctgcaagCcccctcaggtgttcaccaca	8	8	7	18	1	3	1	2	1	1	0	3	1	3	1	5	1	3	2	5	1	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:156845863C>T	ENST00000358660.3	+	12	1525	c.1484C>T	c.(1483-1485)tCc>tTc	p.S495F	NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000524377.1_Intron|NTRK1_ENST00000392302.2_Intron			P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	501					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	ACCCTGCAAGCCCCCTCAGGT	0.637			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			T	156845863	C	T	156845863	5	4	540	1	0	0	0	0	0	0	1	0	10782	754	26	2		2	NTRK1	1	156845863	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08	61538206	156845863	92404758	6	47278											
FCRL5	83416	broad.mit.edu	37	chr1	157516858	157516858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttagtatttctttcccaaggTaccgatggtaccattttgtt	8	18	7	8	1	1	0	0	0	1	0	2	1	2	0	3	2	2	4	3	2	5	9			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:157516858T>C	ENST00000361835.3	-	3	339	c.182A>G	c.(181-183)tAc>tGc	p.Y61C	FCRL5_ENST00000368191.3_Intron|FCRL5_ENST00000368188.2_Missense_Mutation_p.Y61C|FCRL5_ENST00000368190.3_Missense_Mutation_p.Y61C|FCRL5_ENST00000356953.4_Missense_Mutation_p.Y61C|FCRL5_ENST00000368189.3_Missense_Mutation_p.Y61C	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	61	Ig-like C2-type 1.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				TTTCCCAAGGTACCGATGGTA	0.502													C	157516858	T	C	157516858	3	2	540	1	0	0	0	0	1	0	0	0	5847	1638	57	3	2811	3	FCRL5	1	157516858	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	670995	157516858	91733763	7	47279											
SOAT1	6646	broad.mit.edu	37	chr1	179316745	179316745	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatttttaggtgtgctgatTctcttccttactttttttgc	4	24	6	7	0	1	1	0	1	1	0	3	1	2	1	1	1	3	1	1	1	3	10			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:179316745T>G	ENST00000367619.3	+	12	1271	c.1128T>G	c.(1126-1128)atT>atG	p.I376M	SOAT1_ENST00000535686.1_Missense_Mutation_p.I112M|SOAT1_ENST00000540564.1_Missense_Mutation_p.I318M|SOAT1_ENST00000539888.1_Missense_Mutation_p.I311M	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	376					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GTGTGCTGATTCTCTTCCTTA	0.348													G	179316745	T	G	179316745	3	3	540	1	0	0	0	0	1	0	0	0	15004	1771	62	5	1170	5	SOAT1	1	179316745	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	21799887	179316745	69933876	8	47280											
RYR2	6262	broad.mit.edu	37	chr1	237666709	237666709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtggaacacagccgagaGtacaagcaagaaagaactta	20	4	10	7	1	0	3	0	0	0	3	0	5	0	4	1	1	5	2	1	1	8	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr1:237666709G>T	ENST00000366574.2	+	22	2834	c.2517G>T	c.(2515-2517)gaG>gaT	p.E839D	RYR2_ENST00000542537.1_Missense_Mutation_p.E823D|RYR2_ENST00000360064.6_Missense_Mutation_p.E837D	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	839					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAGCCGAGAGTACAAGCAAG	0.507													T	237666709	G	T	237666709	3	4	540	1	0	0	0	0	1	0	0	0	13860	1020	36	4	2603	4	RYR2	1	237666709	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	58349964	237666709	11583912	9	47281											
TRIM54	57159	broad.mit.edu	37	chr2	27505759	27505759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcaaatgtgccaacgacGtcttccaggtgggtgccagg	8	7	14	12	3	1	0	0	0	1	0	2	1	2	0	4	3	3	1	4	3	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:27505759G>A	ENST00000296098.4	+	1	430	c.160G>A	c.(160-162)Gtc>Atc	p.V54I	TRIM54_ENST00000380075.2_Missense_Mutation_p.V54I	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	54					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCCAACGACGTCTTCCAGGT	0.592													A	27505759	G	A	27505759	3	1	540	1	0	0	0	0	1	0	0	0	16629	1145	40	1	162	1	TRIM54	2	27505759	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		27505759	215693614	10	47282											
DCAF17	80067	broad.mit.edu	37	chr2	172337525	172337525	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttgacagagacttggtgctAcacatagagcagaaacccaa	15	8	9	9	0	0	4	0	1	0	3	0	5	0	4	1	1	4	2	1	1	4	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:172337525A>C	ENST00000375255.3	+	14	1791	c.1464A>C	c.(1462-1464)ctA>ctC	p.L488L	DCAF17_ENST00000539783.1_Silent_p.L421L|DCAF17_ENST00000468592.1_3'UTR	NM_025000.3	NP_079276.2	Q5H9S7	DCA17_HUMAN	DDB1 and CUL4 associated factor 17	488						CUL4 RING ubiquitin ligase complex|integral to membrane|nucleolus				endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|prostate(1)	17						ACTTGGTGCTACACATAGAGC	0.398													C	172337525	A	C	172337525	2	2	540	1	0	0	0	0	0	0	0	1	4303	378	14	5		5	DCAF17	2	172337525	Silent	SNP	A	TCGA-HT-7616-01A-11D-2253-08	144831766	172337525	70861848	11	47283											
TTN	7273	broad.mit.edu	37	chr2	179455636	179455636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtttaccaggaggagaCggaggactaaatttatgctt	12	11	12	6	1	0	1	0	0	0	1	0	5	0	4	1	5	2	2	1	5	4	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179455636C>T	ENST00000589042.1	-	304	61040	c.60816G>A	c.(60814-60816)ccG>ccA	p.P20272P	TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Silent_p.P11332P|TTN_ENST00000460472.2_Silent_p.P11207P|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.P17704P|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.P11399P|TTN_ENST00000591111.1_Silent_p.P18631P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18631	Ig-like 111.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGGAGGAGACGGAGGACTAA	0.458													T	179455636	C	T	179455636	2	4	540	1	0	0	0	0	0	0	0	1	16837	523	19	1		1	TTN	2	179455636	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	7118111	179455636	63743737	12	47284											
TTN	7273	broad.mit.edu	37	chr2	179591914	179591914	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcagtactgagattgttcatCtgtatgacggccactgagtc	9	13	10	9	1	3	3	2	3	1	1	4	4	3	3	1	1	1	3	1	1	2	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:179591914C>G	ENST00000589042.1	-	69	20402	c.20178G>C	c.(20176-20178)caG>caC	p.Q6726H	TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.Q5482H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.Q6409H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6409							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GATTGTTCATCTGTATGACGG	0.448													G	179591914	C	G	179591914	3	3	540	1	0	0	0	0	1	0	0	0	16837	912	32	4	84527	4	TTN	2	179591914	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	136278	179591914	63607459	13	47285											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	540	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	29521198	209113112	34086261	14	47286											
UCN2	90226	broad.mit.edu	37	chr3	48600467	48600467	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagaattctgagggcGgagctggaaggttgggatag	9	8	20	4	1	1	2	0	1	1	1	1	6	1	5	0	7	1	2	0	7	3	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:48600467G>A	ENST00000273610.3	-	2	173	c.91C>T	c.(91-93)Cgc>Tgc	p.R31C		NM_033199.3	NP_149976.1	Q96RP3	UCN2_HUMAN	urocortin 2	31					cAMP biosynthetic process|digestion|response to stress		hormone activity|hormone binding								BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		TTCTGAGGGCGGAGCTGGAAG	0.632													A	48600467	G	A	48600467	3	1	540	1	0	0	0	0	1	0	0	0	17030	1116	39	1	251	1	UCN2	3	48600467	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		48600467	149421963	15	47287											
NT5DC2	64943	broad.mit.edu	37	chr3	52561696	52561696	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccacatcgaagagctggCgccaatcgggacccaccatg	11	5	11	14	3	0	2	0	1	0	1	2	4	0	3	4	2	1	1	4	2	2	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:52561696C>A	ENST00000307076.4	-	9	1263	c.863G>T	c.(862-864)cGc>cTc	p.R288L	NT5DC2_ENST00000422318.2_Missense_Mutation_p.R325L|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R229L|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R300L	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	288							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		GAAGAGCTGGCGCCAATCGGG	0.627													A	52561696	C	A	52561696	3	1	540	1	0	0	0	0	1	0	0	0	10767	768	27	4	723	4	NT5DC2	3	52561696	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3961229	52561696	145460734	16	47288											
CEP97	79598	broad.mit.edu	37	chr3	101446274	101446274	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggatgatgggtgtggccaaGctgacgttgcttcgtgtatt	6	13	15	7	3	0	2	0	2	0	0	1	3	0	3	1	3	2	4	1	3	2	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr3:101446274G>A	ENST00000341893.3	+	3	986	c.234G>A	c.(232-234)aaG>aaA	p.K78K	CEP97_ENST00000327230.4_Silent_p.K78K|CEP97_ENST00000494050.1_Silent_p.K78K			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	78						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGTGGCCAAGCTGACGTTGC	0.373													A	101446274	G	A	101446274	2	1	540	1	0	0	0	0	0	0	0	1	3293	962	34	2		2	CEP97	3	101446274	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	48884578	101446274	96576156	17	47289											
CMYA5	202333	broad.mit.edu	37	chr5	79026993	79026993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagttgatctccaaatatgCagccccactcaatgcaacac	15	8	5	13	0	2	1	1	1	1	0	3	1	2	1	3	0	4	3	3	0	5	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:79026993C>T	ENST00000446378.2	+	2	2436	c.2405C>T	c.(2404-2406)gCa>gTa	p.A802V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	802						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		TCCAAATATGCAGCCCCACTC	0.443													T	79026993	C	T	79026993	3	4	540	1	0	0	0	0	1	0	0	0	3621	710	25	2	2411	2	CMYA5	5	79026993	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		79026993	101888267	18	47290											
PCDHGA2	56113	broad.mit.edu	37	chr5	140718979	140718979	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcagtgaaaccactacGccaggattccggattcctct	13	9	7	12	2	2	1	1	1	1	0	4	3	4	3	4	2	2	0	4	2	4	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr5:140718979G>T	ENST00000394576.2	+	1	441	c.441G>T	c.(439-441)acG>acT	p.T147T	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACCACTACGCCAGGATTCC	0.458													T	140718979	G	T	140718979	2	4	540	1	0	0	0	0	0	0	0	1	11630	1074	38	4		4	PCDHGA2	5	140718979	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	61691986	140718979	40196281	19	47291											
F13A1	2162	broad.mit.edu	37	chr6	6266847	6266847	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctgggtttcgactggttCgaagtacgccatagggagtc	7	13	13	8	3	1	0	0	0	1	0	4	3	1	1	1	3	1	3	1	3	3	5			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:6266847C>T	ENST00000264870.3	-	4	780	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	172					peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.R172Q(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TCGACTGGTTCGAAGTACGCC	0.458													T	6266847	C	T	6266847	3	4	540	1	0	0	0	0	1	0	0	0	5382	884	31	1	1731	1	F13A1	6	6266847	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		6266847	164848220	20	47292											
STX11	8676	broad.mit.edu	37	chr6	144507945	144507945	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaccagctgctggtggccGacgtgaagcggctgggaaag	11	5	16	9	3	0	1	0	1	0	0	0	3	0	2	2	4	4	3	2	4	4	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:144507945G>A	ENST00000367568.4	+	2	364	c.181G>A	c.(181-183)Gac>Aac	p.D61N		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	61				D -> N (in Ref. 1; AAD02107).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCTGGTGGCCGACGTGAAGCG	0.612									Familial Hemophagocytic Lymphohistiocytosis				A	144507945	G	A	144507945	3	1	540	1	0	0	0	0	1	0	0	0	15433	1058	37	1	183	1	STX11	6	144507945	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	138241098	144507945	26607122	21	47293											
SHPRH	257218	broad.mit.edu	37	chr6	146271526	146271526	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggatggactgcgtttcttGctgatgtgtttgtttcacaa	6	18	11	6	1	2	1	1	1	1	0	2	3	2	3	0	2	2	4	0	2	1	5			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:146271526G>A	ENST00000367503.3	-	4	1254	c.856C>T	c.(856-858)Caa>Taa	p.Q286*	SHPRH_ENST00000367505.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000438092.2_Nonsense_Mutation_p.Q286*|SHPRH_ENST00000275233.7_Nonsense_Mutation_p.Q286*	NM_001042683.2	NP_001036148.2	Q149N8	SHPRH_HUMAN	SNF2 histone linker PHD RING helicase, E3 ubiquitin protein ligase	286					DNA repair|nucleosome assembly	nucleosome|nucleus	ATP binding|DNA binding|helicase activity|ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(33)|ovary(3)|pancreas(2)|prostate(7)|skin(1)|urinary_tract(1)	79		Ovarian(120;0.0365)		OV - Ovarian serous cystadenocarcinoma(155;1.47e-07)|GBM - Glioblastoma multiforme(68;0.0124)		TGCGTTTCTTGCTGATGTGTT	0.468													A	146271526	G	A	146271526	4	1	540	1	0	0	0	0	0	1	0	0	14385	1328	46	2	4347	2	SHPRH	6	146271526	Nonsense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	1763581	146271526	24843541	22	47294											
TULP4	56995	broad.mit.edu	37	chr6	158902198	158902198	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggacgacccggaggtgggcGgcccgtgctacacgctctac	7	5	15	14	5	1	0	0	0	1	0	1	3	1	2	2	5	3	2	2	5	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:158902198G>A	ENST00000367097.3	+	8	2720	c.1363G>A	c.(1363-1365)Ggc>Agc	p.G455S	TULP4_ENST00000367094.2_Missense_Mutation_p.G455S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	455					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		GGAGGTGGGCGGCCCGTGCTA	0.617													A	158902198	G	A	158902198	3	1	540	1	0	0	0	0	1	0	0	0	16878	1116	39	1	1393	1	TULP4	6	158902198	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12630672	158902198	12212869	23	47295											
FNDC1	84624	broad.mit.edu	37	chr6	159618496	159618496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccaaggcatgtgaaacTgctgtccactaaaatgggcc	13	7	11	10	0	0	1	0	1	0	0	1	2	1	1	3	2	3	2	3	2	5	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr6:159618496T>C	ENST00000297267.9	+	2	343	c.143T>C	c.(142-144)cTg>cCg	p.L48P	FNDC1_ENST00000340366.6_Missense_Mutation_p.L48P	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	48	Fibronectin type-III 1.					extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		CATGTGAAACTGCTGTCCACT	0.453													C	159618496	T	C	159618496	3	2	540	1	0	0	0	0	1	0	0	0	6017	1580	55	3	149	3	FNDC1	6	159618496	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08	716298	159618496	11496571	24	47296											
ABCA13	154664	broad.mit.edu	37	chr7	48556330	48556330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttttcagatatgcaacTcttccatggatgtacctgat	10	16	6	9	0	2	2	1	1	1	1	3	3	3	3	2	1	4	2	2	1	4	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:48556330T>C	ENST00000435803.1	+	52	13674	c.13650T>C	c.(13648-13650)acT>acC	p.T4550T	ABCA13_ENST00000544596.1_Silent_p.T280T	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4550					transport	integral to membrane	ATP binding|ATPase activity	p.T4495T(1)|p.T4550T(1)		breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GATATGCAACTCTTCCATGGA	0.378													C	48556330	T	C	48556330	2	2	540	1	0	0	0	0	0	0	0	1	31	1538	54	3		3	ABCA13	7	48556330	Silent	SNP	T	TCGA-HT-7616-01A-11D-2253-08		48556330	110582333	25	47297											
SLC26A5	375611	broad.mit.edu	37	chr7	103018895	103018895	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaaaagaccactcactgCtttgacaacagttgcgttgg	13	10	9	9	1	1	3	1	2	0	1	1	3	1	3	1	1	3	3	1	1	4	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018895C>G	ENST00000306312.3	-	17	2044	c.1783G>C	c.(1783-1785)Gca>Cca	p.A595P	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.A563P|SLC26A5_ENST00000339444.6_Missense_Mutation_p.A595P|SLC26A5_ENST00000393727.1_Missense_Mutation_p.A595P|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.A28P|SLC26A5_ENST00000393723.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393730.1_Missense_Mutation_p.A563P|SLC26A5_ENST00000393729.1_Missense_Mutation_p.A558P	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	595	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CCACTCACTGCTTTGACAACA	0.448													G	103018895	C	G	103018895	3	3	540	1	0	0	0	0	1	0	0	0	14614	797	28	4	508	4	SLC26A5	7	103018895	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	54462565	103018895	56119768	26	47298			1	68		2	2	17	N	G_C	3.04937e-05
SLC26A5	375611	broad.mit.edu	37	chr7	103018911	103018911	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgctttgacaacagttgcGttggccatatttgcatttcc	8	15	8	10	1	0	1	0	1	0	0	1	1	1	1	2	1	4	4	2	1	2	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:103018911G>T	ENST00000306312.3	-	17	2028	c.1767C>A	c.(1765-1767)aaC>aaA	p.N589K	SLC26A5_ENST00000393735.2_Intron|SLC26A5_ENST00000432958.2_Missense_Mutation_p.N557K|SLC26A5_ENST00000339444.6_Missense_Mutation_p.N589K|SLC26A5_ENST00000393727.1_Missense_Mutation_p.N589K|SLC26A5_ENST00000356767.4_Intron|SLC26A5_ENST00000354356.4_Missense_Mutation_p.N22K|SLC26A5_ENST00000393723.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393730.1_Missense_Mutation_p.N557K|SLC26A5_ENST00000393729.1_Missense_Mutation_p.N552K	NM_198999.2	NP_945350.1	P58743	S26A5_HUMAN	solute carrier family 26 (anion exchanger), member 5	589	STAS.				regulation of cell shape|sensory perception of sound	integral to membrane	secondary active sulfate transmembrane transporter activity			endometrium(5)|kidney(2)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)	43						CAACAGTTGCGTTGGCCATAT	0.448													T	103018911	G	T	103018911	3	4	540	1	0	0	0	0	1	0	0	0	14614	1136	40	4	524	4	SLC26A5	7	103018911	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	16	103018911	56119752	27	47299			1	68		2	2	17	N	G_C	3.04937e-05
COG5	10466	broad.mit.edu	37	chr7	106851543	106851543	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggcttgactttatttattaCctggaaaggagatttcagtt	10	17	9	5	0	1	2	1	1	0	1	1	4	1	3	1	3	1	2	1	3	4	8			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:106851543C>T	ENST00000393603.2	-	20	2660		c.e20+1		COG5_ENST00000347053.3_Splice_Site|COG5_ENST00000297135.3_Splice_Site	NM_001161520.1	NP_001154992.1	Q9UP83	COG5_HUMAN	component of oligomeric golgi complex 5						intra-Golgi vesicle-mediated transport|protein transport	cytosol|Golgi membrane|Golgi transport complex|nucleus	protein binding			breast(3)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|skin(4)|stomach(1)	40						TTATTTATTACCTGGAAAGGA	0.468													T	106851543	C	T	106851543	5	4	540	1	0	0	0	0	0	0	1	0	3692	521	18	2	209	2	COG5	7	106851543	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3832632	106851543	52287120	28	47300											
GPR85	54329	broad.mit.edu	37	chr7	112723879	112723879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ataacaggccaccaggtaggGgccccacaaggttagaaaca	15	4	11	11	0	0	1	0	0	0	1	0	1	0	1	4	5	2	2	4	5	5	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:112723879G>C	ENST00000297146.3	-	3	1501	c.898C>G	c.(898-900)Ccc>Gcc	p.P300A	GPR85_ENST00000501255.2_Missense_Mutation_p.P300A|GPR85_ENST00000449591.1_Missense_Mutation_p.P300A|GPR85_ENST00000424100.1_Missense_Mutation_p.P300A	NM_001146266.1	NP_001139738.1	P60893	GPR85_HUMAN	G protein-coupled receptor 85							integral to membrane|plasma membrane	G-protein coupled receptor activity	p.P300T(1)		central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	17						ACCAGGTAGGGGCCCCACAAG	0.458													C	112723879	G	C	112723879	3	2	540	1	0	0	0	0	1	0	0	0	6769	1232	43	4	218	4	GPR85	7	112723879	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5872336	112723879	46414784	29	47301											
KCND2	3751	broad.mit.edu	37	chr7	119914854	119914854	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgcttccagacgtggcaGgacaccctggaacgttaccc	9	6	10	16	3	0	1	0	0	0	1	1	3	1	3	4	3	2	3	4	3	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr7:119914854G>A	ENST00000331113.4	+	1	1133	c.168G>A	c.(166-168)caG>caA	p.Q56Q		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	56					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					AGACGTGGCAGGACACCCTGG	0.567													A	119914854	G	A	119914854	2	1	540	1	0	0	0	0	0	0	0	1	8077	991	35	2		2	KCND2	7	119914854	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	7190975	119914854	39223809	30	47302											
LOXL2	4017	broad.mit.edu	37	chr8	23167365	23167365	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcatgaacatgggccGgtcctccaggtaggtggtct	7	9	14	11	1	1	1	0	1	1	0	3	1	3	1	3	5	3	3	3	5	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:23167365G>A	ENST00000389131.3	-	10	2065	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W		NM_002318.2	NP_002309.1	Q9Y4K0	LOXL2_HUMAN	lysyl oxidase-like 2	566	Lysyl-oxidase like.				aging|cell adhesion|protein modification process	extracellular space|membrane	copper ion binding|electron carrier activity|oxidoreductase activity, acting on the CH-NH2 group of donors, oxygen as acceptor|scavenger receptor activity			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(5)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(55;0.0453)|Breast(100;0.143)		Colorectal(74;0.0288)|COAD - Colon adenocarcinoma(73;0.096)		AACATGGGCCGGTCCTCCAGG	0.657													A	23167365	G	A	23167365	3	1	540	1	0	0	0	0	1	0	0	0	8970	1115	39	1	648	1	LOXL2	8	23167365	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		23167365	123196657	31	47303											
RB1CC1	9821	broad.mit.edu	37	chr8	53569559	53569559	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttctttaatttcacaattttGagagtgcattatattttcca	11	20	4	6	0	2	1	1	1	1	1	3	2	3	1	1	0	1	1	1	0	4	10			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr8:53569559G>C	ENST00000025008.5	-	15	3353	c.2830C>G	c.(2830-2832)Caa>Gaa	p.Q944E	RB1CC1_ENST00000539297.1_Missense_Mutation_p.Q944E|RB1CC1_ENST00000435644.2_Missense_Mutation_p.Q944E|RB1CC1_ENST00000521611.1_Intron	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	944					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				TCACAATTTTGAGAGTGCATT	0.323													C	53569559	G	C	53569559	3	2	540	1	0	0	0	0	1	0	0	0	13187	1299	45	4	1994	4	RB1CC1	8	53569559	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	30402194	53569559	92794463	32	47304											
DMRT3	58524	broad.mit.edu	37	chr9	977181	977181	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctgcgagaagtgcatcctCatcatcgagcggcagcgggt	9	7	13	12	4	2	1	2	0	0	1	4	3	3	1	2	2	4	2	2	2	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:977181C>G	ENST00000190165.2	+	1	218	c.180C>G	c.(178-180)ctC>ctG	p.L60L		NM_021240.2	NP_067063.1	Q9NQL9	DMRT3_HUMAN	doublesex and mab-3 related transcription factor 3	60					cell differentiation|multicellular organismal development|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	26		all_lung(10;1.39e-08)|Lung NSC(10;1.42e-08)		Lung(218;0.0196)		AGTGCATCCTCATCATCGAGC	0.667													G	977181	C	G	977181	2	3	540	1	0	0	0	0	0	0	0	1	4626	813	29	4		4	DMRT3	9	977181	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08		977181	140236250	33	47305											
ASB6	140459	broad.mit.edu	37	chr9	132401579	132401580	+	Frame_Shift_Del	DEL	CT	CT	-																															tggccaggtccaaggggctaCtctcgtggatctgagccaag																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr9:132401579_132401580delCT	ENST00000277458.4	-	4	577_578	c.412_413delAG	c.(412-414)agtfs	p.S139fs	ASB6_ENST00000277459.4_Intron|ASB6_ENST00000450050.2_Frame_Shift_Del_p.S60fs	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	139					intracellular signal transduction	cytoplasm				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				CAAGGGGCTACTCTCGTGGATC	0.624													-	132401580	CT	-	132401579	7	5	540	1	0	1	0	1	0	0	0	0	1032	565	20	0	864	0	ASB6	9	132401579	Frame_Shift_Del	DEL	CT	TCGA-HT-7616-01A-11D-2253-08	131424398	132401579	8811852	34	47306											
RET	5979	broad.mit.edu	37	chr10	43622043	43622043	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactacttggaccttgcggcGtccactccatctgactccct	6	11	8	16	2	1	1	0	1	1	0	4	3	4	2	4	2	2	0	4	2	1	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr10:43622043G>A	ENST00000355710.3	+	19	3292	c.3060G>A	c.(3058-3060)gcG>gcA	p.A1020A	RET_ENST00000340058.5_Silent_p.A1020A	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1020					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	ACCTTGCGGCGTCCACTCCAT	0.552		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				A	43622043	G	A	43622043	2	1	540	1	0	0	0	0	0	0	0	1	13323	1132	40	1		1	RET	10	43622043	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08		43622043	91912704	35	47307											
OR4A47	403253	broad.mit.edu	37	chr11	48511063	48511063	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agccctctcaacctgcagttCccacatgactgtggttgtct	7	12	8	14	0	2	1	1	1	2	0	4	1	3	1	3	1	3	3	3	1	1	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr11:48511063C>A	ENST00000446524.1	+	1	795	c.719C>A	c.(718-720)tCc>tAc	p.S240Y		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	240					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACCTGCAGTTCCCACATGACT	0.413													A	48511063	C	A	48511063	3	1	540	1	0	0	0	0	1	0	0	0	11118	855	30	4	721	4	OR4A47	11	48511063	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		48511063	86495453	36	47308											
NELL2	4753	broad.mit.edu	37	chr12	45000951	45000951	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagatgaaatgatattcttaCccgtttcacagctgggtcca	12	12	8	9	1	2	3	1	2	1	1	3	3	3	3	2	1	2	2	2	1	4	4			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:45000951C>T	ENST00000429094.2	-	15	2168		c.e15+1		NELL2_ENST00000551601.1_Splice_Site|NELL2_ENST00000452445.2_Splice_Site|NELL2_ENST00000437801.2_Splice_Site|NELL2_ENST00000333837.4_Splice_Site|NELL2_ENST00000549027.1_Splice_Site|NELL2_ENST00000395487.2_Splice_Site	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)						cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		GATATTCTTACCCGTTTCACA	0.408													T	45000951	C	T	45000951	5	4	540	1	0	0	0	0	0	0	1	0	10410	521	18	2	810	2	NELL2	12	45000951	Splice_Site	SNP	C	TCGA-HT-7616-01A-11D-2253-08		45000951	88850944	37	47309											
NAB2	4665	broad.mit.edu	37	chr12	57487218	57487218	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgtccaaggctgacgccGccccctgctgacctgcctct	5	9	9	18	2	2	2	1	2	1	0	3	2	3	2	6	1	2	2	6	1	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:57487218G>A	ENST00000300131.3	+	6	1683	c.1305G>A	c.(1303-1305)ccG>ccA	p.P435P	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	435					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						GGCTGACGCCGCCCCCTGCTG	0.657													A	57487218	G	A	57487218	2	1	540	1	0	0	0	0	0	0	0	1	10208	1074	38	1		1	NAB2	12	57487218	Silent	SNP	G	TCGA-HT-7616-01A-11D-2253-08	12486267	57487218	76364677	38	47310											
TMBIM4	51643	broad.mit.edu	37	chr12	66531809	66531809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatgatatccaagtagagGctgatggcagctaatacgta	13	11	11	6	1	0	4	0	3	0	1	1	4	1	4	1	2	2	5	1	2	6	6			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:66531809G>T	ENST00000358230.3	-	7	768	c.648C>A	c.(646-648)agC>agA	p.S216R	TMBIM4_ENST00000542724.1_Missense_Mutation_p.S185R|TMBIM4_ENST00000539652.1_3'UTR|TMBIM4_ENST00000556010.1_3'UTR|TMBIM4_ENST00000544599.1_Missense_Mutation_p.S39R|TMBIM4_ENST00000286424.7_Missense_Mutation_p.S263R|TMBIM4_ENST00000398033.4_3'UTR	NM_016056.2	NP_057140.2	Q9HC24	TMBI4_HUMAN	transmembrane BAX inhibitor motif containing 4	216						integral to membrane	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		CCAAGTAGAGGCTGATGGCAG	0.413													T	66531809	G	T	66531809	3	4	540	1	0	0	0	0	1	0	0	0	16082	1194	42	4	72	4	TMBIM4	12	66531809	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	9044591	66531809	67320086	39	47311											
TMEM19	55266	broad.mit.edu	37	chr12	72094645	72094645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggcatggtggtcaacaGcccaacaaataaggcaaggc	14	5	11	11	0	1	0	1	0	0	0	1	0	1	0	1	5	3	2	1	5	5	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:72094645G>A	ENST00000266673.5	+	6	1475	c.881G>A	c.(880-882)aGc>aAc	p.S294N		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	294						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		GTGGTCAACAGCCCAACAAAT	0.413													A	72094645	G	A	72094645	3	1	540	1	0	0	0	0	1	0	0	0	16213	971	34	2	903	2	TMEM19	12	72094645	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	5562836	72094645	61757250	40	47312											
SLC5A8	160728	broad.mit.edu	37	chr12	101573832	101573832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagctcccataagtgacGccagcgcagccattccaata	14	6	7	14	2	0	1	0	1	0	0	2	1	2	1	4	0	3	2	4	0	4	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:101573832G>A	ENST00000536262.2	-	10	1766	c.1208C>T	c.(1207-1209)gCg>gTg	p.A403V		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	403					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CATAAGTGACGCCAGCGCAGC	0.443													A	101573832	G	A	101573832	3	1	540	1	0	0	0	0	1	0	0	0	14765	1087	38	1	648	1	SLC5A8	12	101573832	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	29479187	101573832	32278063	41	47313											
SRRM4	84530	broad.mit.edu	37	chr12	119583235	119583235	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttaccaaaacagccagccCgctcaccacctcgcgaggac	11	5	7	18	3	1	0	1	0	0	0	2	2	1	1	5	1	4	1	5	1	3	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr12:119583235C>T	ENST00000267260.4	+	9	1209	c.821C>T	c.(820-822)cCg>cTg	p.P274L		NM_194286.3	NP_919262.2	A7MD48	SRRM4_HUMAN	serine/arginine repetitive matrix 4	274	Ser-rich.				cell differentiation|mRNA processing|nervous system development|regulation of RNA splicing|RNA splicing	nucleus	mRNA binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	24						ACAGCCAGCCCGCTCACCACC	0.612													T	119583235	C	T	119583235	3	4	540	1	0	0	0	0	1	0	0	0	15267	652	23	1	855	1	SRRM4	12	119583235	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	18009403	119583235	14268660	42	47314											
NPAS3	64067	broad.mit.edu	37	chr14	34269615	34269615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcagggcggcggcggtggggGtggcggtggcggggggctgc	1	4	28	8	5	0	0	0	0	0	0	0	0	0	0	0	12	1	2	0	12	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:34269615G>A	ENST00000346562.2	+	11	2080	c.2006G>A	c.(2005-2007)gGt>gAt	p.G669D	NPAS3_ENST00000548645.1_Missense_Mutation_p.G671D|NPAS3_ENST00000357798.5_Missense_Mutation_p.G688D|NPAS3_ENST00000356141.4_Missense_Mutation_p.G701D|NPAS3_ENST00000551492.1_Missense_Mutation_p.G706D	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	701					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		GGCGGTGGGGGTGGCGGTGGC	0.746													A	34269615	G	A	34269615	3	1	540	1	0	0	0	0	1	0	0	0	10640	1261	44	2	2203	2	NPAS3	14	34269615	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08		34269615	73079925	43	47315											
ZC3H14	79882	broad.mit.edu	37	chr14	89044394	89044394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaagaagaattgctagcaGaagtggtccagggacaaagt	15	7	12	7	0	1	3	1	0	0	3	2	4	2	4	1	2	2	2	1	2	6	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:89044394G>A	ENST00000251038.5	+	9	1414	c.1189G>A	c.(1189-1191)Gaa>Aaa	p.E397K	ZC3H14_ENST00000555755.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000557607.1_Missense_Mutation_p.E242K|ZC3H14_ENST00000557605.1_3'UTR|ZC3H14_ENST00000336693.4_Missense_Mutation_p.E363K|ZC3H14_ENST00000393514.5_Missense_Mutation_p.E397K|ZC3H14_ENST00000556945.1_Missense_Mutation_p.E397K|ZC3H14_ENST00000302216.8_Missense_Mutation_p.E397K|ZC3H14_ENST00000359301.3_Missense_Mutation_p.E363K	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	397						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						ATTGCTAGCAGAAGTGGTCCA	0.388													A	89044394	G	A	89044394	3	1	540	1	0	0	0	0	1	0	0	0	17667	943	33	2	1223	2	ZC3H14	14	89044394	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	54774779	89044394	18305146	44	47316											
AHNAK2	113146	broad.mit.edu	37	chr14	105409805	105409805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggcctccacctttggcgCggtcacatccactgatgcct	5	10	10	16	3	1	1	1	1	0	0	4	1	3	1	5	3	1	0	5	3	0	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr14:105409805C>T	ENST00000333244.5	-	7	12102	c.11983G>A	c.(11983-11985)Gcg>Acg	p.A3995T	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3995						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			ACCTTTGGCGCGGTCACATCC	0.612													T	105409805	C	T	105409805	3	4	540	1	0	0	0	0	1	0	0	0	415	768	27	1	5408	1	AHNAK2	14	105409805	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	16365411	105409805	1939735	45	47317											
SLCO3A1	28232	broad.mit.edu	37	chr15	92663795	92663796	+	Frame_Shift_Ins	INS	-	-	T																															tggtggctggcttcgctgccINStttttggggaagtacctgga																								rs34062402		TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr15:92663795_92663796insT	ENST00000318445.6	+	5	1324_1325	c.1110_1111insT	c.(1111-1113)tttfs	p.F371fs	SLCO3A1_ENST00000424469.2_Frame_Shift_Ins_p.F371fs|SLCO3A1_ENST00000555549.1_3'UTR	NM_013272.3	NP_037404.2	Q9UIG8	SO3A1_HUMAN	solute carrier organic anion transporter family, member 3A1	371					sodium-independent organic anion transport	integral to membrane|plasma membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)|skin(2)	25	Lung NSC(78;0.0158)|all_lung(78;0.0255)		BRCA - Breast invasive adenocarcinoma(143;0.0841)			GCTTCGCTGCCTTTTTGGGGAA	0.584													T	92663796	-	T	92663795	7	5	540	1	0	1	1	0	0	0	0	0	14822	668	24	0	1128	0	SLCO3A1	15	92663795	Frame_Shift_Ins	INS	-	TCGA-HT-7616-01A-11D-2253-08		92663795	9867597	46	47318											
CCDC135	84229	broad.mit.edu	37	chr16	57732824	57732824	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcctacaaaaccaacacacCcaaggaggaacacctgctgc	15	5	6	15	0	0	0	0	0	0	0	1	2	1	2	4	2	6	1	4	2	6	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr16:57732824C>G	ENST00000360716.3	+	4	487	c.266C>G	c.(265-267)cCc>cGc	p.P89R	CCDC135_ENST00000336825.8_Missense_Mutation_p.P89R|RP11-405F3.4_ENST00000563062.1_RNA|CCDC135_ENST00000394337.4_Missense_Mutation_p.P89R			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	89						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						ACCAACACACCCAAGGAGGAA	0.577													G	57732824	C	G	57732824	3	3	540	1	0	0	0	0	1	0	0	0	2795	623	22	4	272	4	CCDC135	16	57732824	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		57732824	32621929	47	47319											
APPBP2	10513	broad.mit.edu	37	chr17	58571849	58571849	+	Frame_Shift_Del	DEL	G	G	-																															aaaacaaagccaacctgaatGgctttttcctttactgcagc																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr17:58571849delG	ENST00000083182.3	-	3	644	c.357delC	c.(355-357)gccfs	p.A119fs		NM_001282476.1|NM_006380.2	NP_001269405.1|NP_006371.2	Q92624	APBP2_HUMAN	amyloid beta precursor protein (cytoplasmic tail) binding protein 2	119					intracellular protein transport	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|nucleus	microtubule motor activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(17)|pancreas(1)|urinary_tract(1)	25	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.67e-13)|all cancers(12;1.44e-11)|Colorectal(3;0.01)			CAACCTGAATGGCTTTTTCCT	0.403													-	58571849	G	-	58571849	7	5	540	1	0	1	0	1	0	0	0	0	819	1335	47	0	1444	0	APPBP2	17	58571849	Frame_Shift_Del	DEL	G	TCGA-HT-7616-01A-11D-2253-08		58571849	22623361	48	47320											
SLC7A9	11136	broad.mit.edu	37	chr19	33334813	33334813	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcctgacgctgatgtaagaaAgcactttgagcatgtgaccc	11	9	11	10	1	0	5	0	4	0	1	0	5	0	5	2	0	2	4	2	0	2	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:33334813A>T	ENST00000023064.4	-	10	1213	c.1022T>A	c.(1021-1023)cTt>cAt	p.L341H	SLC7A9_ENST00000587772.1_Missense_Mutation_p.L341H|SLC7A9_ENST00000590341.1_Missense_Mutation_p.L341H	NM_001126335.1|NM_001243036.1|NM_014270.4	NP_001119807.1|NP_001229965.1|NP_055085.1	P82251	BAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, bo,+ system), member 9	341					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	integral to plasma membrane	L-cystine transmembrane transporter activity|neutral amino acid transmembrane transporter activity|peptide antigen binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32	Esophageal squamous(110;0.137)				L-Cystine(DB00138)	GATGTAAGAAAGCACTTTGAG	0.562													T	33334813	A	T	33334813	3	4	540	1	0	0	0	0	1	0	0	0	14799	72	3	5	457	5	SLC7A9	19	33334813	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		33334813	25794170	49	47321											
CAPNS1	826	broad.mit.edu	37	chr19	36631958	36631958	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagggcggcggcggcggcggCgggggaggcgggggcctggg	3	1	28	9	7	0	0	0	0	0	0	0	1	0	1	1	12	0	0	1	12	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:36631958C>G	ENST00000246533.3	+	2	643	c.45C>G	c.(43-45)ggC>ggG	p.G15G	CAPNS1_ENST00000588815.1_Silent_p.G15G|CAPNS1_ENST00000589146.1_Silent_p.G15G|CAPNS1_ENST00000590874.1_Silent_p.G15G|CAPNS1_ENST00000588780.1_Silent_p.G15G|CAPNS1_ENST00000587718.1_Silent_p.G15G	NM_001003962.1|NM_001749.2	NP_001003962.1|NP_001740.1	P04632	CPNS1_HUMAN	calpain, small subunit 1	15	Gly-rich (hydrophobic).|Poly-Gly.				positive regulation of cell proliferation	cytoplasm|plasma membrane	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			cervix(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			gcggcggcggcgggggaggcg	0.736													G	36631958	C	G	36631958	2	3	540	1	0	0	0	0	0	0	0	1	2659	755	27	4		4	CAPNS1	19	36631958	Silent	SNP	C	TCGA-HT-7616-01A-11D-2253-08	3297145	36631958	22497025	50	47322											
CIC	23152	broad.mit.edu	37	chr19	42795390	42795390	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggctgggggaatcaccCaggtacagtacatcctgccc	10	6	12	13	0	1	0	1	0	0	0	2	1	2	1	3	4	3	4	3	4	4	2			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:42795390C>T	ENST00000572681.2	+	11	5265	c.5197C>T	c.(5197-5199)Cag>Tag	p.Q1733*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q824*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q824*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	824					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGGAATCACCCAGGTACAGTA	0.692			"Mis, F, S"		oligodendroglioma								T	42795390	C	T	42795390	4	4	540	1	0	0	0	0	0	1	0	0	3454	595	21	2	2508	2	CIC	19	42795390	Nonsense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	6163432	42795390	16333593	51	47323											
PPFIA3	8541	broad.mit.edu	37	chr19	49651494	49651494	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctccggggccaactcaAgatggtggacagctttcaca	10	7	13	11	1	2	1	2	0	0	1	3	3	3	3	2	5	3	2	2	5	2	1			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr19:49651494A>G	ENST00000334186.4	+	24	3339	c.2990A>G	c.(2989-2991)aAg>aGg	p.K997R	PPFIA3_ENST00000602351.1_Missense_Mutation_p.K988R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	997	SAM 2.					cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		GGCCAACTCAAGATGGTGGAC	0.582													G	49651494	A	G	49651494	3	3	540	1	0	0	0	0	1	0	0	0	12388	72	3	3	3080	3	PPFIA3	19	49651494	Missense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08	6856104	49651494	9477489	52	47324											
RSPO4	343637	broad.mit.edu	37	chr20	944643	944643	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctggcaggtggctgccTcctcatgcccagcccggcca	5	6	12	18	1	1	0	1	0	0	0	2	0	2	0	6	4	3	3	6	4	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:944643T>C	ENST00000217260.4	-	4	626	c.530A>G	c.(529-531)gAg>gGg	p.E177G	RSPO4_ENST00000400634.2_Intron	NM_001029871.3	NP_001025042.2	Q2I0M5	RSPO4_HUMAN	R-spondin 4	177	TSP type-1.				Wnt receptor signaling pathway	extracellular region	heparin binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGTGGCTGCCTCCTCATGCCC	0.672													C	944643	T	C	944643	3	2	540	1	0	0	0	0	1	0	0	0	13803	1551	54	3	182	3	RSPO4	20	944643	Missense_Mutation	SNP	T	TCGA-HT-7616-01A-11D-2253-08		944643	62080877	53	47325											
STMN3	50861	broad.mit.edu	37	chr20	62273610	62273610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcacctcgcgctcgtgctCgcgccgctccgccagctgct	3	7	11	20	7	0	0	0	0	0	0	4	0	1	0	4	0	4	6	4	0	0	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr20:62273610C>T	ENST00000370053.1	-	4	415	c.334G>A	c.(334-336)Gag>Aag	p.E112K	STMN3_ENST00000540534.1_Missense_Mutation_p.E101K	NM_001276310.1|NM_015894.2	NP_001263239.1|NP_056978.2	Q9NZ72	STMN3_HUMAN	stathmin-like 3	112					cytoplasmic microtubule organization|intracellular signal transduction|negative regulation of Rac protein signal transduction|neuron projection development|regulation of cytoskeleton organization|regulation of Rac GTPase activity	cytoplasm	protein domain specific binding			kidney(1)|large_intestine(1)|lung(5)|prostate(1)	8	all_cancers(38;2.31e-11)|all_epithelial(29;7.76e-13)		Epithelial(9;1.9e-09)|all cancers(9;1.22e-08)|BRCA - Breast invasive adenocarcinoma(10;8.86e-06)|OV - Ovarian serous cystadenocarcinoma(5;0.00559)			CGCTCGTGCTCGCGCCGCTCC	0.692													T	62273610	C	T	62273610	3	4	540	1	0	0	0	0	1	0	0	0	15406	893	31	1	216	1	STMN3	20	62273610	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	61328967	62273610	751910	54	47326											
MX2	4600	broad.mit.edu	37	chr21	42749752	42749752	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacagccagtacgagcagAaggtgcgcccctgcattgac	10	7	12	12	2	0	2	0	1	0	1	0	3	0	2	3	1	6	4	3	1	3	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:42749752A>T	ENST00000330714.3	+	3	470	c.286A>T	c.(286-288)Aag>Tag	p.K96*	MX2_ENST00000543692.1_Nonsense_Mutation_p.K96*	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	96					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				GTACGAGCAGAAGGTGCGCCC	0.627													T	42749752	A	T	42749752	4	4	540	1	0	0	0	0	0	1	0	0	10074	247	9	5	292	5	MX2	21	42749752	Nonsense_Mutation	SNP	A	TCGA-HT-7616-01A-11D-2253-08		42749752	5380143	55	47327											
COL18A1	80781	broad.mit.edu	37	chr21	46924342	46924342	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccacagggggagaagggaGaccgaggtgatgcaggacag	12	3	19	7	1	0	3	0	1	0	2	1	7	1	4	2	5	1	1	2	5	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr21:46924342G>T	ENST00000359759.4	+	33	4006	c.3985G>T	c.(3985-3987)Gac>Tac	p.D1329Y	SLC19A1_ENST00000567670.1_Intron|COL18A1_ENST00000400337.2_Missense_Mutation_p.D914Y|COL18A1_ENST00000355480.5_Missense_Mutation_p.D1094Y			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1329	Triple-helical region 8 (COL8).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GGAGAAGGGAGACCGAGGTGA	0.706													T	46924342	G	T	46924342	3	4	540	1	0	0	0	0	1	0	0	0	3706	942	33	4	4229	4	COL18A1	21	46924342	Missense_Mutation	SNP	G	TCGA-HT-7616-01A-11D-2253-08	4174590	46924342	1205553	56	47328											
IGLL1	3543	broad.mit.edu	37	chr22	23922291	23922293	+	In_Frame_Del	DEL	CAG	CAG	-																															tgggttaccacggccagaccCagcagcagcaggggccagcg																										TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chr22:23922291_23922293delCAG	ENST00000330377.2	-	1	202_204	c.85_87delCTG	c.(85-87)ctgdel	p.L29del	IGLL1_ENST00000249053.3_In_Frame_Del_p.L29del	NM_020070.3	NP_064455.1	P15814	IGLL1_HUMAN	immunoglobulin lambda-like polypeptide 1	29					immune response	extracellular region|membrane				kidney(1)|large_intestine(1)|lung(5)|skin(4)|stomach(1)	12						CGGCCAGACCCAGCAGCAGCAGG	0.719													-	23922293	CAG	-	23922291	7	5	540	1	0	1	0	1	0	0	0	0	7651	581	21	0	566	0	IGLL1	22	23922291	In_Frame_Del	DEL	CAG	TCGA-HT-7616-01A-11D-2253-08		23922291	27382275	57	47329											
MXRA5	25878	broad.mit.edu	37	chrX	3241681	3241681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagagcctttgcacctgggCgtctgcctcttttggatggc	6	12	12	11	1	2	1	0	0	2	1	2	2	2	2	3	3	3	1	3	3	1	3			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:3241681C>T	ENST00000217939.6	-	5	2199	c.2045G>A	c.(2044-2046)cGc>cAc	p.R682H		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	682						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TGCACCTGGGCGTCTGCCTCT	0.532													T	3241681	C	T	3241681	3	4	540	1	0	0	0	0	1	0	0	0	10079	768	27	1	6453	1	MXRA5	23	3241681	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08		3241681	152028879	58	47330											
RS1	6247	broad.mit.edu	37	chrX	18665417	18665417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtccggtgtgacctcccCtgactcgaaacccagaggct	7	8	11	15	2	0	3	0	2	0	1	3	4	2	3	5	3	1	1	5	3	1	0			TCGA-HT-7616-01A-11D-2253-08	TCGA-HT-7616-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ddcc007a-1ffc-4fe3-9946-413845db180a	8cc3a7af-61c7-4608-9d1c-80de9345f44c	g.chrX:18665417C>G	ENST00000379984.3	-	4	260	c.220G>C	c.(220-222)Ggg>Cgg	p.G74R	CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR|CDKL5_ENST00000379989.3_Intron	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	74	F5/8 type C.		G -> V (in XLRS1).		cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					GTGACCTCCCCTGACTCGAAA	0.507													G	18665417	C	G	18665417	3	3	540	1	0	0	0	0	1	0	0	0	13784	681	24	4	466	4	RS1	23	18665417	Missense_Mutation	SNP	C	TCGA-HT-7616-01A-11D-2253-08	15423736	18665417	136605143	59	47331											
FUBP1	8880	broad.mit.edu	37	chr1	78429792	78429792	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatttctgcagcatgttgAcatcggtctggaggtcctgt	8	14	11	8	1	2	1	0	1	2	0	4	2	3	2	1	3	2	3	1	3	1	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:78429792A>T	ENST00000370767.1	-	12	1083	c.996T>A	c.(994-996)tgT>tgA	p.C332*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.C353*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.C332*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	332	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CAGCATGTTGACATCGGTCTG	0.328			"F, N"		oligodendroglioma								T	78429792	A	T	78429792	4	4	541	1	0	0	0	0	0	1	0	0	6144	273	10	5	974	5	FUBP1	1	78429792	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		78429792	170820829	1	47332											
CFH	3075	broad.mit.edu	37	chr1	196648911	196648911	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctggatggcgtccgttgCcttcatgtgaaggtaatgtt	8	14	12	7	2	2	1	1	1	1	0	3	2	3	2	2	3	1	3	2	3	3	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:196648911C>T	ENST00000367429.4	+	6	1018	c.778C>T	c.(778-780)Cct>Tct	p.P260S	CFH_ENST00000359637.2_Missense_Mutation_p.P196S|CFH_ENST00000439155.2_Missense_Mutation_p.P260S	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	260	Sushi 4.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						GCGTCCGTTGCCTTCATGTGA	0.294													T	196648911	C	T	196648911	3	4	541	1	0	0	0	0	1	0	0	0	3313	739	26	2	800	2	CFH	1	196648911	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	118219119	196648911	52601710	2	47333											
CNST	163882	broad.mit.edu	37	chr1	246810446	246810446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcttcatctttagagagtAaaacttgtctcggcacagag	11	14	8	8	1	4	2	1	0	3	2	5	3	4	2	0	1	1	2	0	1	3	6			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr1:246810446A>G	ENST00000366513.4	+	9	1212	c.943A>G	c.(943-945)Aaa>Gaa	p.K315E	CNST_ENST00000483271.1_3'UTR|CNST_ENST00000366512.3_Missense_Mutation_p.K315E	NM_152609.2	NP_689822.2	Q6PJW8	CNST_HUMAN	consortin, connexin sorting protein	315					positive regulation of Golgi to plasma membrane protein transport	integral to membrane|plasma membrane|protein complex|trans-Golgi network|transport vesicle	connexin binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|urinary_tract(2)	28						TTTAGAGAGTAAAACTTGTCT	0.388											OREG0014367	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	246810446	A	G	246810446	3	3	541	1	0	0	0	0	1	0	0	0	3665	363	13	3	973	3	CNST	1	246810446	Missense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08	50161535	246810446	2440175	3	47334											
CCT7	10574	broad.mit.edu	37	chr2	73478419	73478419	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtacctgcgggattaCtcaaggactattccaggaaa	13	9	9	10	1	1	0	1	0	0	0	3	3	3	3	3	3	3	1	3	3	6	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:73478419C>G	ENST00000539919.1	+	12	1508	c.1137C>G	c.(1135-1137)taC>taG	p.Y379*	CCT7_ENST00000398422.2_Nonsense_Mutation_p.Y219*|CCT7_ENST00000540468.1_Nonsense_Mutation_p.Y336*|CCT7_ENST00000538797.1_Nonsense_Mutation_p.Y295*|CCT7_ENST00000537131.1_Nonsense_Mutation_p.Y323*|CCT7_ENST00000258091.5_Nonsense_Mutation_p.Y423*	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	423					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						TGCGGGATTACTCAAGGACTA	0.517													G	73478419	C	G	73478419	4	3	541	1	0	0	0	0	0	1	0	0	2989	576	20	4	1311	4	CCT7	2	73478419	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		73478419	169720954	4	47335											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	541	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	135634693	209113112	34086261	5	47336											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916940	GAA	-	178916938	7	5	541	1	0	1	0	1	0	0	0	0	11990	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HT-7620-01A-11D-2253-08		178916938	19105492	6	47337											
KLHL5	51088	broad.mit.edu	37	chr4	39088270	39088270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcacttcttacttgggtcCgtcatgatttggaacagaga	10	13	10	8	1	2	2	1	1	1	1	3	4	3	3	1	2	3	1	1	2	2	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:39088270C>T	ENST00000261425.3	+	6	1188	c.1036C>T	c.(1036-1038)Cgt>Tgt	p.R346C	KLHL5_ENST00000381930.3_Missense_Mutation_p.R392C|KLHL5_ENST00000504108.1_Missense_Mutation_p.R392C|KLHL5_ENST00000261426.5_Missense_Mutation_p.R331C|KLHL5_ENST00000508137.2_Missense_Mutation_p.R205C|KLHL5_ENST00000359687.2_Missense_Mutation_p.R392C	NM_001007075.2	NP_001007076.1	Q96PQ7	KLHL5_HUMAN	kelch-like family member 5	392						cytoplasm|cytoskeleton	actin binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	29						TACTTGGGTCCGTCATGATTT	0.388													T	39088270	C	T	39088270	3	4	541	1	0	0	0	0	1	0	0	0	8450	652	23	1	1192	1	KLHL5	4	39088270	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		39088270	152066006	7	47338											
CAMK2D	817	broad.mit.edu	37	chr4	114436309	114436309	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attttattgatgaggtctttGgcttcaggagtcaccgtgtc	7	16	11	7	1	3	2	2	2	1	0	4	3	3	3	1	3	0	1	1	3	1	5			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr4:114436309G>A	ENST00000454265.2	-	10	1593	c.735C>T	c.(733-735)gcC>gcT	p.A245A	CAMK2D_ENST00000342666.5_Silent_p.A245A|CAMK2D_ENST00000511664.1_Silent_p.A245A|CAMK2D_ENST00000394526.2_Silent_p.A245A|CAMK2D_ENST00000379773.2_Silent_p.A245A|CAMK2D_ENST00000394524.3_Silent_p.A245A|CAMK2D_ENST00000508738.1_Silent_p.A245A|CAMK2D_ENST00000394522.3_Silent_p.A245A|CAMK2D_ENST00000429180.1_Silent_p.A245A|CAMK2D_ENST00000514328.1_Silent_p.A245A|CAMK2D_ENST00000515496.1_Silent_p.A245A|CAMK2D_ENST00000418639.2_Silent_p.A245A|CAMK2D_ENST00000296402.5_Silent_p.A245A|CAMK2D_ENST00000505990.1_Silent_p.A245A			Q13557	KCC2D_HUMAN	calcium/calmodulin-dependent protein kinase II delta	245	Protein kinase.				interferon-gamma-mediated signaling pathway|regulation of cell growth|synaptic transmission	calcium- and calmodulin-dependent protein kinase complex|cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	13		Ovarian(17;0.00369)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000271)		TGAGGTCTTTGGCTTCAGGAG	0.398													A	114436309	G	A	114436309	2	1	541	1	0	0	0	0	0	0	0	1	2627	1335	47	2		2	CAMK2D	4	114436309	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08	75348039	114436309	76717967	8	47339											
SRD5A1	6715	broad.mit.edu	37	chr5	6663021	6663021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggtctgtccaaggcGcggcttttgctttcttcacg	4	13	11	13	3	3	0	1	0	2	0	4	0	4	0	2	3	2	3	2	3	1	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:6663021G>A	ENST00000274192.5	+	4	889	c.655G>A	c.(655-657)Gcg>Acg	p.A219T	SRD5A1_ENST00000537411.1_3'UTR|SRD5A1_ENST00000538824.1_Missense_Mutation_p.A172T	NM_001047.2	NP_001038.1	P18405	S5A1_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)	219					androgen biosynthetic process|cell differentiation|sex determination|sex differentiation	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|electron carrier activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19					Dutasteride(DB01126)|Finasteride(DB01216)	TGTCCAAGGCGCGGCTTTTGC	0.408													A	6663021	G	A	6663021	3	1	541	1	0	0	0	0	1	0	0	0	15234	1087	38	1	669	1	SRD5A1	5	6663021	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		6663021	174252239	9	47340											
GRIA1	2890	broad.mit.edu	37	chr5	153175109	153175109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgaaaagcaaatggtggTacgataaaggggaatgtgga	16	7	15	3	1	0	1	0	1	0	0	0	4	0	3	0	5	3	3	0	5	7	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:153175109T>C	ENST00000340592.5	+	14	2417	c.2344T>C	c.(2344-2346)Tac>Cac	p.Y782H	GRIA1_ENST00000521843.2_Intron|GRIA1_ENST00000448073.4_Missense_Mutation_p.Y792H|GRIA1_ENST00000518783.1_Intron|GRIA1_ENST00000285900.5_Intron|GRIA1_ENST00000518142.1_Intron	NM_001114183.1|NM_001258020.1	NP_001107655.1|NP_001244949.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	782					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	CAAATGGTGGTACGATAAAGG	0.473													C	153175109	T	C	153175109	3	2	541	1	0	0	0	0	1	0	0	0	6822	1638	57	3	2517	3	GRIA1	5	153175109	Missense_Mutation	SNP	T	TCGA-HT-7620-01A-11D-2253-08	146512088	153175109	27740151	10	47341											
SLC34A1	6569	broad.mit.edu	37	chr5	176825109	176825109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatgggacttcctgcctcGctggatgcactccctgaagc	7	9	11	14	1	0	1	0	1	0	0	3	4	2	3	3	2	3	2	3	2	1	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr5:176825109G>A	ENST00000324417.5	+	13	1833	c.1742G>A	c.(1741-1743)cGc>cAc	p.R581H	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	581					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TTCCTGCCTCGCTGGATGCAC	0.667													A	176825109	G	A	176825109	3	1	541	1	0	0	0	0	1	0	0	0	14661	1087	38	1	1879	1	SLC34A1	5	176825109	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	23650000	176825109	4090151	11	47342											
SCAND3	114821	broad.mit.edu	37	chr6	28540669	28540669	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactttctcgatgaatgaaGcaatgtgttgttttacattc	11	16	8	6	1	1	3	0	2	1	1	3	4	1	3	0	0	2	3	0	0	4	5			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:28540669G>A	ENST00000452236.2	-	4	3614	c.2997C>T	c.(2995-2997)tgC>tgT	p.C999C		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	999					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						gatgaatgaagcaatgtgttg	0.328													A	28540669	G	A	28540669	2	1	541	1	0	0	0	0	0	0	0	1	13968	963	34	2		2	SCAND3	6	28540669	Silent	SNP	G	TCGA-HT-7620-01A-11D-2253-08		28540669	142574398	12	47343											
TFAP2B	7021	broad.mit.edu	37	chr6	50807962	50807962	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatttgaaccggcagcacaCagacccgagtgacctgcact	11	7	10	13	2	0	3	0	2	0	1	0	4	0	3	3	1	3	4	3	1	2	2			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:50807962C>A	ENST00000263046.4	+	7	1227	c.1061C>A	c.(1060-1062)aCa>aAa	p.T354K	TFAP2B_ENST00000393655.3_Missense_Mutation_p.T345K			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	345					nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					CGGCAGCACACAGACCCGAGT	0.517													A	50807962	C	A	50807962	3	1	541	1	0	0	0	0	1	0	0	0	15888	478	17	4	1056	4	TFAP2B	6	50807962	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	22267293	50807962	120307105	13	47344											
LAMA2	3908	broad.mit.edu	37	chr6	129823889	129823889	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacagtcacattgcaattgCatttgatgacaccaaagtta	16	11	6	8	0	1	2	1	2	0	0	1	2	1	2	1	0	3	3	1	0	4	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr6:129823889C>T	ENST00000421865.2	+	59	8379	c.8330C>T	c.(8329-8331)gCa>gTa	p.A2777V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2777	Laminin G-like 4.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		ATTGCAATTGCATTTGATGAC	0.408													T	129823889	C	T	129823889	3	4	541	1	0	0	0	0	1	0	0	0	8665	710	25	2	8564	2	LAMA2	6	129823889	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	79015927	129823889	41291178	14	47345											
ANKRD30A	91074	broad.mit.edu	37	chr10	37419199	37419199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtgccgatataaatctcGtagatgtgtatggcaacacg	11	11	11	8	3	1	1	0	0	1	1	2	2	1	1	1	2	2	3	1	2	6	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr10:37419199G>A	ENST00000374660.1	+	3	334	c.235G>A	c.(235-237)Gta>Ata	p.V79I	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V79I|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.V79I			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	135						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.V79I(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						TATAAATCTCGTAGATGTGTA	0.423													A	37419199	G	A	37419199	3	1	541	1	0	0	0	0	1	0	0	0	658	1145	40	1	245	1	ANKRD30A	10	37419199	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		37419199	98115548	15	47346											
FOXM1	2305	broad.mit.edu	37	chr12	2968215	2968215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctactttggctgggggCgtgagcctccaggattcagg	5	9	14	13	1	1	1	1	1	0	0	2	2	2	2	4	5	2	1	4	5	1	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:2968215C>T	ENST00000342628.2	-	10	2108	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	ITFG2_ENST00000545509.1_Intron|FOXM1_ENST00000359843.3_Silent_p.T627T|FOXM1_ENST00000361953.3_Silent_p.T612T	NM_202002.2	NP_973731.1	Q08050	FOXM1_HUMAN	forkhead box M1	627					cell cycle|embryo development|liver development|negative regulation of cell aging|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|pattern specification process|positive regulation of cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of cell cycle arrest|regulation of cell growth|regulation of cell proliferation|regulation of oxygen and reactive oxygen species metabolic process|regulation of Ras protein signal transduction|regulation of reactive oxygen species metabolic process|regulation of sequence-specific DNA binding transcription factor activity|tissue development|transcription from RNA polymerase II promoter|vasculogenesis	cytoplasm|transcription factor complex	DNA bending activity|DNA binding|double-stranded DNA binding|promoter binding|protein binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|transcription factor binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(3)	24			OV - Ovarian serous cystadenocarcinoma(31;0.000622)			TGGCTGGGGGCGTGAGCCTCC	0.592													T	2968215	C	T	2968215	2	4	541	1	0	0	0	0	0	0	0	1	6069	755	27	1		1	FOXM1	12	2968215	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		2968215	130883680	16	47347											
USP30	84749	broad.mit.edu	37	chr12	109519737	109519737	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcttctcatgctgtaGggtcacccattgaccctgga	6	15	8	12	0	4	1	2	1	3	0	5	2	4	2	2	2	1	2	2	2	1	5			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr12:109519737G>A	ENST00000257548.5	+	9	873		c.e9-1		USP30_ENST00000392784.2_Splice_Site	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30						ubiquitin-dependent protein catabolic process	integral to membrane|mitochondrial outer membrane	cysteine-type peptidase activity|ubiquitin thiolesterase activity			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TCATGCTGTAGGGTCACCCAT	0.428													A	109519737	G	A	109519737	5	1	541	1	0	0	0	0	0	0	1	0	17163	1014	35	2	814	2	USP30	12	109519737	Splice_Site	SNP	G	TCGA-HT-7620-01A-11D-2253-08	106551522	109519737	24332158	17	47348											
CYP1A2	1544	broad.mit.edu	37	chr15	75042314	75042314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggggacgtcctgcagatcCgcattggctccacgcccgtg	6	7	13	15	5	0	1	0	0	0	1	3	2	3	2	4	3	1	3	4	3	0	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr15:75042314C>T	ENST00000343932.4	+	2	298	c.235C>T	c.(235-237)Cgc>Tgc	p.R79C		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	79				R -> S (in Ref. 2; AAA35738).	alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CCTGCAGATCCGCATTGGCTC	0.672													T	75042314	C	T	75042314	3	4	541	1	0	0	0	0	1	0	0	0	4183	652	23	1	237	1	CYP1A2	15	75042314	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		75042314	27489078	18	47349											
USP31	57478	broad.mit.edu	37	chr16	23080559	23080559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacactggagttcaatctgCgggtgtccgattcgtctttg	6	13	12	10	4	3	0	1	0	2	0	5	3	4	1	1	2	1	1	1	2	1	3			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:23080559C>T	ENST00000219689.7	-	16	2866	c.2867G>A	c.(2866-2868)cGc>cAc	p.R956H	USP31_ENST00000567975.1_Missense_Mutation_p.R249H	NM_020718.3	NP_065769.3	Q70CQ4	UBP31_HUMAN	ubiquitin specific peptidase 31	956	Ser-rich.				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	57				GBM - Glioblastoma multiforme(48;0.0187)		GTTCAATCTGCGGGTGTCCGA	0.552													T	23080559	C	T	23080559	3	4	541	1	0	0	0	0	1	0	0	0	17164	768	27	1	1195	1	USP31	16	23080559	Missense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08		23080559	67274194	19	47350											
PRSS54	221191	broad.mit.edu	37	chr16	58324928	58324928	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggatgcagccgaaagccagGtgtgtgtactgggagtcctg	9	8	16	8	1	0	0	0	0	0	0	1	3	1	2	3	3	4	2	3	3	2	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr16:58324928G>T	ENST00000219301.4	-	4	592	c.198C>A	c.(196-198)caC>caA	p.H66Q	PRSS54_ENST00000543437.1_Intron|PRSS54_ENST00000567164.1_Missense_Mutation_p.H66Q	NM_001080492.1	NP_001073961.1	Q6PEW0	PRS54_HUMAN	protease, serine, 54	66	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CGAAAGCCAGGTGTGTGTACT	0.607													T	58324928	G	T	58324928	3	4	541	1	0	0	0	0	1	0	0	0	12718	1252	44	4	1005	4	PRSS54	16	58324928	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08	35244369	58324928	32029825	20	47351											
YBX2	51087	broad.mit.edu	37	chr17	7197580	7197581	+	Frame_Shift_Ins	INS	-	-	G																															tgtccgcctgactccgggccINSgggggggcgggggttcccga																										TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr17:7197580_7197581insG	ENST00000007699.5	-	1	302_303	c.239_240insC	c.(238-240)ccgfs	p.P80fs	YBX2_ENST00000570627.1_Intron	NM_015982.3	NP_057066.2	Q9Y2T7	YBOX2_HUMAN	Y box binding protein 2	80					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter|translational attenuation	cytoplasm|nucleus	DNA binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|skin(3)	12						GACTCCGGGCCGGGGGGGCGGG	0.802													G	7197581	-	G	7197580	7	5	541	1	0	1	1	0	0	0	0	0	17572	639	23	0	886	0	YBX2	17	7197580	Frame_Shift_Ins	INS	-	TCGA-HT-7620-01A-11D-2253-08		7197580	73997630	21	47352											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	CTD-3105H18.18_ENST00000598753.1_Intron|ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													A	12575498	G	A	12575498	3	1	541	1	0	0	0	0	1	0	0	0	18214	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-HT-7620-01A-11D-2253-08		12575498	46553485	22	47353											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704396	56704396	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggtcctccctgacccCatgagagtgtccaatttgca	8	10	10	13	0	0	2	0	2	0	1	3	3	3	2	5	1	2	2	5	1	1	1			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr19:56704396C>T	ENST00000586855.2	-	2	339	c.26G>A	c.(25-27)tGg>tAg	p.W9*	ZSCAN5B_ENST00000358992.3_Nonsense_Mutation_p.W9*			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	9					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						TCCCTGACCCCATGAGAGTGT	0.502													T	56704396	C	T	56704396	4	4	541	1	0	0	0	0	0	1	0	0	18336	595	21	2	1477	2	ZSCAN5B	19	56704396	Nonsense_Mutation	SNP	C	TCGA-HT-7620-01A-11D-2253-08	44128898	56704396	2424587	23	47354											
DHX35	60625	broad.mit.edu	37	chr20	37634881	37634881	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtgaaactccgagcctaCaatcccaggacagctattga	12	10	8	11	1	0	2	0	2	0	0	2	4	2	3	3	1	4	1	3	1	4	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chr20:37634881C>T	ENST00000252011.3	+	12	1137	c.1104C>T	c.(1102-1104)taC>taT	p.Y368Y	DHX35_ENST00000373323.4_Silent_p.Y337Y|DHX35_ENST00000373325.2_Silent_p.Y368Y	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	368	Helicase C-terminal.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				TCCGAGCCTACAATCCCAGGA	0.522													T	37634881	C	T	37634881	2	4	541	1	0	0	0	0	0	0	0	1	4547	489	17	2		2	DHX35	20	37634881	Silent	SNP	C	TCGA-HT-7620-01A-11D-2253-08		37634881	25390639	24	47355											
CLIC2	1193	broad.mit.edu	37	chrX	154508571	154508571	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catccagaagtggggtgtttAagtagtcatccagacgcttg	10	11	12	8	1	1	2	1	0	0	2	3	2	3	2	2	2	0	3	2	2	3	4			TCGA-HT-7620-01A-11D-2253-08	TCGA-HT-7620-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3e2dba25-2fc2-4f3b-90f0-663e1576a6bf	1f1dbf44-a66f-478b-9efa-9e76ca91f4bc	g.chrX:154508571A>C	ENST00000369449.2	-	5	667	c.449T>G	c.(448-450)tTa>tGa	p.L150*	CLIC2_ENST00000465553.1_5'UTR	NM_001289.4	NP_001280.3	O15247	CLIC2_HUMAN	chloride intracellular channel 2	150	C-terminal.|GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	voltage-gated chloride channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	18	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					TGGGGTGTTTAAGTAGTCATC	0.408													C	154508571	A	C	154508571	4	2	541	1	0	0	0	0	0	1	0	0	3557	372	13	5	302	5	CLIC2	23	154508571	Nonsense_Mutation	SNP	A	TCGA-HT-7620-01A-11D-2253-08		154508571	761989	25	47356											
PAPPA2	60676	broad.mit.edu	37	chr1	176734861	176734861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcattgctgcttgatcatgCtgatgtggtgaactgtacct	7	15	11	8	0	2	3	2	3	0	0	2	3	2	3	1	1	5	4	1	1	2	3			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr1:176734861C>T	ENST00000367662.3	+	15	5375	c.4211C>T	c.(4210-4212)gCt>gTt	p.A1404V		NM_020318.2	NP_064714.2	Q9BXP8	PAPP2_HUMAN	pappalysin 2	1404	Sushi 1.				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						CTTGATCATGCTGATGTGGTG	0.507													T	176734861	C	T	176734861	3	4	542	1	0	0	0	0	1	0	0	0	11509	797	28	2	4318	2	PAPPA2	1	176734861	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		176734861	72515760	1	47357											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	542	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		209113112	34086261	2	47358											
C3orf30	152405	broad.mit.edu	37	chr3	118870094	118870094	+	Frame_Shift_Del	DEL	T	T	-																															attactgaaaacttagtctaTgaaaagccagaggaccccct																										TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:118870094delT	ENST00000295622.1	+	3	1606	c.1566delT	c.(1564-1566)tatfs	p.Y522fs	RP11-484M3.5_ENST00000490594.1_Intron	NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	522										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		ACTTAGTCTATGAAAAGCCAG	0.358													-	118870094	T	-	118870094	7	5	542	1	0	1	0	1	0	0	0	0	2241	1471	51	0	1576	0	C3orf30	3	118870094	Frame_Shift_Del	DEL	T	TCGA-HT-7676-01A-11D-2395-08		118870094	79152336	3	47359											
ETV5	2119	broad.mit.edu	37	chr3	185769871	185769871	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagcggctcagcttgTcatagttcatggctggccgg	7	9	16	9	2	3	1	3	0	0	1	3	3	3	2	1	5	2	4	1	5	1	3			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr3:185769871T>C	ENST00000306376.5	-	12	1505	c.1259A>G	c.(1258-1260)gAc>gGc	p.D420G	ETV5_ENST00000434744.1_Missense_Mutation_p.D420G|ETV5_ENST00000537818.1_Missense_Mutation_p.D462G|ETV5_ENST00000480706.1_5'UTR	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	420					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			GCTCAGCTTGTCATAGTTCAT	0.522			T	"TMPRSS2, SCL45A3"	Prostate								C	185769871	T	C	185769871	3	2	542	1	0	0	0	0	1	0	0	0	5323	1667	58	3	281	3	ETV5	3	185769871	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08	66899777	185769871	12252559	4	47360											
AHRR	57491	broad.mit.edu	37	chr5	423984	423984	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctatcctggggaggctgctCagggcccaggagtggggcac	6	6	18	11	0	1	0	1	0	0	0	2	2	2	2	2	7	1	4	2	7	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr5:423984C>G	ENST00000316418.5	+	7	656	c.612C>G	c.(610-612)ctC>ctG	p.L204L	AHRR_ENST00000512529.1_Silent_p.L50L|AHRR_ENST00000505113.1_Silent_p.L204L|AHRR_ENST00000506456.1_Silent_p.L60L	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	204					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GGAGGCTGCTCAGGGCCCAGG	0.652													G	423984	C	G	423984	2	3	542	1	0	0	0	0	0	0	0	1	417	813	29	4		4	AHRR	5	423984	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		423984	180491276	5	47361											
KIAA1009	22832	broad.mit.edu	37	chr6	84896080	84896080	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcatcctgagataatgaTgaagaattaacagttatttt	14	16	7	4	0	1	4	1	3	0	2	2	5	2	4	1	0	1	1	1	0	5	6			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:84896080T>C	ENST00000403245.3	-	12	1485	c.1371A>G	c.(1369-1371)tcA>tcG	p.S457S	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Silent_p.S381S	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	457					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		GAGATAATGATGAAGAATTAA	0.279													C	84896080	T	C	84896080	2	2	542	1	0	0	0	0	0	0	0	1	8261	1451	51	3		3	KIAA1009	6	84896080	Silent	SNP	T	TCGA-HT-7676-01A-11D-2395-08		84896080	86218987	6	47362											
ZDHHC14	79683	broad.mit.edu	37	chr6	158014166	158014166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cctcccattgcagcctttgtGataactgcgtaggtgagtag	8	12	11	10	1	0	2	0	2	0	0	1	2	1	2	3	1	4	3	3	1	3	5			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr6:158014166G>C	ENST00000359775.5	+	3	1442	c.553G>C	c.(553-555)Gat>Cat	p.D185H	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Missense_Mutation_p.D185H			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	185						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CAGCCTTTGTGATAACTGCGT	0.582													C	158014166	G	C	158014166	3	2	542	1	0	0	0	0	1	0	0	0	17705	1290	45	4	563	4	ZDHHC14	6	158014166	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	73118086	158014166	13100901	7	47363											
ZNF704	619279	broad.mit.edu	37	chr8	81577128	81577128	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtcatcaacttagtctcCgttttggcacaaggagtttc	8	13	10	10	2	3	0	2	0	1	0	5	1	3	1	1	3	1	3	1	3	3	4			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:81577128C>T	ENST00000327835.3	-	6	1080	c.849G>A	c.(847-849)acG>acA	p.T283T		NM_001033723.2	NP_001028895.1	Q6ZNC4	ZN704_HUMAN	zinc finger protein 704	283						intracellular	zinc ion binding	p.T283T(1)		lung(9)|skin(1)|upper_aerodigestive_tract(1)	11	all_cancers(3;8.53e-08)|all_epithelial(4;4.59e-10)|Breast(3;2.56e-06)|Lung NSC(7;2.58e-06)|all_lung(9;9.4e-06)		BRCA - Breast invasive adenocarcinoma(6;0.00401)|Epithelial(68;0.00448)|all cancers(69;0.0277)			ACTTAGTCTCCGTTTTGGCAC	0.577													T	81577128	C	T	81577128	2	4	542	1	0	0	0	0	0	0	0	1	18208	639	23	1		1	ZNF704	8	81577128	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		81577128	64786894	8	47364											
FER1L6	654463	broad.mit.edu	37	chr8	125113341	125113341	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgaatctatttttaggtgGttaaagggcttggaggatga	10	16	13	2	0	1	2	0	2	1	0	1	4	1	4	0	5	0	2	0	5	5	7			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr8:125113341G>T	ENST00000522917.1	+	38	5093	c.4887G>T	c.(4885-4887)tgG>tgT	p.W1629C	FER1L6_ENST00000399018.1_Missense_Mutation_p.W1629C|FER1L6-AS2_ENST00000520031.1_RNA	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1629	C2 6.					integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			TTTTTAGGTGGTTAAAGGGCT	0.408													T	125113341	G	T	125113341	3	4	542	1	0	0	0	0	1	0	0	0	5864	1270	44	4	5033	4	FER1L6	8	125113341	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	43536213	125113341	21250681	9	47365											
OR13A1	79290	broad.mit.edu	37	chr10	45799361	45799361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatggccgtgttgacggcGcagagcagccacacggctgt	7	7	16	11	4	0	2	0	1	0	1	0	3	0	3	2	4	2	4	2	4	0	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr10:45799361G>A	ENST00000553795.1	-	4	818	c.510C>T	c.(508-510)tgC>tgT	p.C170C	OR13A1_ENST00000374401.2_Silent_p.C170C|OR13A1_ENST00000536058.1_Silent_p.C170C	NM_001004297.2	NP_001004297.2	Q8NGR1	O13A1_HUMAN	olfactory receptor, family 13, subfamily A, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|skin(2)|urinary_tract(1)	19						TGTTGACGGCGCAGAGCAGCC	0.607													A	45799361	G	A	45799361	2	1	542	1	0	0	0	0	0	0	0	1	11009	1079	38	1		1	OR13A1	10	45799361	Silent	SNP	G	TCGA-HT-7676-01A-11D-2395-08		45799361	89735386	10	47366											
FOXR1	283150	broad.mit.edu	37	chr11	118851213	118851213	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatagaaagcacttccccTttttccggacggccccggaa	9	9	8	15	3	0	1	0	0	0	1	3	3	3	3	6	3	1	1	6	3	3	4			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:118851213T>C	ENST00000317011.3	+	5	850	c.625T>C	c.(625-627)Ttt>Ctt	p.F209L		NM_181721.2	NP_859072.1	Q6PIV2	FOXR1_HUMAN	forkhead box R1	209					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.103)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.62e-05)		GCACTTCCCCTTTTTCCGGAC	0.562													C	118851213	T	C	118851213	3	2	542	1	0	0	0	0	1	0	0	0	6082	1609	56	3	643	3	FOXR1	11	118851213	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08		118851213	16155303	11	47367											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G																															cccccacagggagtggcggtINSggccttggggggtgatggca																								rs140619532	by1000genomes	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													G	124745491	-	G	124745490	7	5	542	1	0	1	1	0	0	0	0	0	13606	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-HT-7676-01A-11D-2395-08	5894277	124745490	10261026	12	47368											
DDX51	317781	broad.mit.edu	37	chr12	132624720	132624720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcacgtcgatgcctcgCgcggtggcgtccgtgctgat	3	9	14	15	7	0	1	0	1	0	0	3	2	1	1	3	2	3	2	3	2	0	0			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:132624720C>T	ENST00000397333.3	-	12	1736	c.1698G>A	c.(1696-1698)gcG>gcA	p.A566A		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	566	Helicase C-terminal.				rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CGATGCCTCGCGCGGTGGCGT	0.711													T	132624720	C	T	132624720	2	4	542	1	0	0	0	0	0	0	0	1	4403	755	27	1		1	DDX51	12	132624720	Silent	SNP	C	TCGA-HT-7676-01A-11D-2395-08		132624720	1227175	13	47369											
GOLGA3	2802	broad.mit.edu	37	chr12	133353247	133353247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgctgtagcccttccagTtccttcctgccctgctgctc	3	13	8	17	0	0	0	0	0	0	0	4	0	3	0	5	0	6	6	5	0	1	4			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr12:133353247T>C	ENST00000204726.3	-	21	4509	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567													C	133353247	T	C	133353247	2	2	542	1	0	0	0	0	0	0	0	1	6610	1722	60	3		3	GOLGA3	12	133353247	Silent	SNP	T	TCGA-HT-7676-01A-11D-2395-08	728527	133353247	498648	14	47370											
TPP2	7174	broad.mit.edu	37	chr13	103328687	103328687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgcattagtaaataaaatGtatgggagaggccttaaatt	16	12	9	4	0	0	1	0	0	0	1	0	2	0	1	1	2	1	3	1	2	8	6			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr13:103328687G>A	ENST00000376052.3	+	29	3637	c.3621G>A	c.(3619-3621)atG>atA	p.M1207I	TPP2_ENST00000376065.4_Missense_Mutation_p.M1194I|TPP2_ENST00000466153.1_3'UTR			P29144	TPP2_HUMAN	tripeptidyl peptidase II	1194					proteolysis	cytoplasm|nucleus	aminopeptidase activity|serine-type endopeptidase activity|tripeptidyl-peptidase activity			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TAAATAAAATGTATGGGAGAG	0.264													A	103328687	G	A	103328687	3	1	542	1	0	0	0	0	1	0	0	0	16513	1377	48	2	3692	2	TPP2	13	103328687	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		103328687	11841191	15	47371											
PLCB2	5330	broad.mit.edu	37	chr15	40587142	40587142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaatgccctcacccatcGtctggaagttgagggcaacc	9	8	12	12	1	2	1	1	1	1	0	3	3	2	3	3	3	2	2	3	3	3	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:40587142G>A	ENST00000260402.3	-	18	2150	c.1901C>T	c.(1900-1902)aCg>aTg	p.T634M	PLCB2_ENST00000456256.2_Missense_Mutation_p.T634M|PLCB2_ENST00000557821.1_Missense_Mutation_p.T630M	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	634	PI-PLC Y-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CTCACCCATCGTCTGGAAGTT	0.582													A	40587142	G	A	40587142	3	1	542	1	0	0	0	0	1	0	0	0	12105	1145	40	1	1716	1	PLCB2	15	40587142	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08		40587142	61944250	16	47372											
SNX33	257364	broad.mit.edu	37	chr15	75942786	75942786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatttctcacacgggccGtacctatgaagccatcgggg	8	9	11	13	3	1	1	1	1	1	0	3	1	1	1	4	3	3	1	4	3	3	3	rs139396216	byFrequency	TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:75942786G>A	ENST00000308527.5	+	1	2540	c.1343G>A	c.(1342-1344)cGt>cAt	p.R448H		NM_153271.1	NP_695003.1	Q8WV41	SNX33_HUMAN	sorting nexin 33	448	BAR.				cell communication		phosphatidylinositol binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|prostate(1)|soft_tissue(1)|urinary_tract(2)	19						CACACGGGCCGTACCTATGAA	0.567													A	75942786	G	A	75942786	3	1	542	1	0	0	0	0	1	0	0	0	14997	1145	40	1	1345	1	SNX33	15	75942786	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	35355644	75942786	26588606	17	47373											
SEMA4B	10509	broad.mit.edu	37	chr15	90768923	90768923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcggcctcacactcgggcGtagtccaggtgcccatggcc	6	7	13	15	3	1	0	1	0	0	0	3	0	2	0	4	4	2	1	4	4	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr15:90768923G>A	ENST00000411539.2	+	12	1812	c.1552G>A	c.(1552-1554)Gta>Ata	p.V518I	SEMA4B_ENST00000332496.6_Missense_Mutation_p.V518I|SEMA4B_ENST00000379122.3_Missense_Mutation_p.V513I	NM_198925.2	NP_945119.1			sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4B											NS(1)|breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)	12	Melanoma(11;0.00551)|Lung NSC(78;0.0125)|all_lung(78;0.0272)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			ACACTCGGGCGTAGTCCAGGT	0.672													A	90768923	G	A	90768923	3	1	542	1	0	0	0	0	1	0	0	0	14125	1145	40	1	1598	1	SEMA4B	15	90768923	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	14826137	90768923	11762469	18	47374											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	542	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7676-01A-11D-2395-08		7578394	73616816	19	47375											
KRT20	54474	broad.mit.edu	37	chr17	39041356	39041356	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggtgtcgtcccgaggcGctgcatgcccactgtactga	5	9	14	13	3	0	1	0	1	0	0	2	2	1	1	2	2	3	4	2	2	1	1			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr17:39041356G>A	ENST00000167588.3	-	1	123	c.82C>T	c.(82-84)Cgc>Tgc	p.R28C		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	28	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				GTCCCGAGGCGCTGCATGCCC	0.597													A	39041356	G	A	39041356	3	1	542	1	0	0	0	0	1	0	0	0	8516	1087	38	1	1224	1	KRT20	17	39041356	Missense_Mutation	SNP	G	TCGA-HT-7676-01A-11D-2395-08	31462962	39041356	42153854	20	47376											
ZADH2	284273	broad.mit.edu	37	chr18	72913406	72913406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacagagtgaggtaattcaaCtacaatttttccagtgtttt	12	15	8	6	0	1	2	1	1	0	1	2	3	2	2	1	1	2	2	1	1	4	7			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr18:72913406C>T	ENST00000322342.3	-	2	1388	c.1099G>A	c.(1099-1101)Gtt>Att	p.V367I	ZADH2_ENST00000537114.2_Missense_Mutation_p.V244I	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	367						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GGTAATTCAACTACAATTTTT	0.398													T	72913406	C	T	72913406	3	4	542	1	0	0	0	0	1	0	0	0	17613	565	20	2	38	2	ZADH2	18	72913406	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		72913406	5163842	21	47377											
KCNB1	3745	broad.mit.edu	37	chr20	48098921	48098921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccccccgacgttgaggcggaCccgccgagagcacgccttgc	6	4	13	18	6	0	2	0	1	0	1	0	5	0	3	6	2	2	2	6	2	0	2			TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chr20:48098921C>T	ENST00000371741.4	-	1	263	c.97G>A	c.(97-99)Gtc>Atc	p.V33I		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	33					energy reserve metabolic process|regulation of insulin secretion	voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			TTGAGGCGGACCCGCCGAGAG	0.716													T	48098921	C	T	48098921	3	4	542	1	0	0	0	0	1	0	0	0	8070	507	18	2	2487	2	KCNB1	20	48098921	Missense_Mutation	SNP	C	TCGA-HT-7676-01A-11D-2395-08		48098921	14926599	22	47378											
ATRX	546	broad.mit.edu	37	chrX	76855230	76855230	+	Frame_Shift_Del	DEL	G	G	-																															tcatcggagcttaaactcatGgaggtttcatcagaatctga																										TCGA-HT-7676-01A-11D-2395-08	TCGA-HT-7676-10B-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f7e2e119-549c-4b01-9587-b0227f5b0d55	f0d2df47-aeac-49c2-a537-641c574a3d9e	g.chrX:76855230delG	ENST00000373344.5	-	24	5971	c.5757delC	c.(5755-5757)tccfs	p.S1919fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1881fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1919					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)	TTAAACTCATGGAGGTTTCAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76855230	G	-	76855230	7	5	542	1	0	1	0	1	0	0	0	0	1213	1335	47	0	1769	0	ATRX	23	76855230	Frame_Shift_Del	DEL	G	TCGA-HT-7676-01A-11D-2395-08		76855230	78415330	23	47379											
FUBP1	8880	broad.mit.edu	37	chr1	78430643	78430643	+	Frame_Shift_Del	DEL	C	C	-																															gaatcataaccattttaactCcagcccgttcctgttacaat																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:78430643delC	ENST00000370767.1	-	9	734	c.647delG	c.(646-648)ggafs	p.G216fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.G216fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.G237fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	216	KH 2.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATTTTAACTCCAGCCCGTTC	0.363			"F, N"		oligodendroglioma								-	78430643	C	-	78430643	7	5	543	1	0	1	0	1	0	0	0	0	6144	855	30	0	1335	0	FUBP1	1	78430643	Frame_Shift_Del	DEL	C	TCGA-HT-7677-01A-11D-2253-08		78430643	170819978	1	47380											
F5	2153	broad.mit.edu	37	chr1	169524423	169524423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccccaacaactcacttgTccatattcgctggtattaca	12	11	5	13	1	1	0	1	0	0	0	3	1	2	0	3	1	4	2	3	1	6	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:169524423T>C	ENST00000367796.3	-	7	1316	c.1115A>G	c.(1114-1116)gAc>gGc	p.D372G	F5_ENST00000367797.3_Missense_Mutation_p.D372G|F5_ENST00000546081.1_Missense_Mutation_p.D235G			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	372	F5/8 type A 2.|Plastocyanin-like 3.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	AACTCACTTGTCCATATTCGC	0.468													C	169524423	T	C	169524423	3	2	543	1	0	0	0	0	1	0	0	0	5390	1667	58	3	5635	3	F5	1	169524423	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	91093780	169524423	79726198	2	47381											
CFHR3	10878	broad.mit.edu	37	chr1	196749062	196749062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagaccacagttacatgtaCggagaaaggctggtctccta	12	8	11	10	1	1	2	0	0	1	2	2	3	1	2	2	3	2	4	2	3	4	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr1:196749062C>T	ENST00000471440.2	+	3	463	c.389C>T	c.(388-390)aCg>aTg	p.T130M	CFHR3_ENST00000391985.3_Missense_Mutation_p.T130M|CFHR3_ENST00000367425.4_Missense_Mutation_p.T130M					complement factor H-related 3									p.T130M(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GTTACATGTACGGAGAAAGGC	0.473													T	196749062	C	T	196749062	3	4	543	1	0	0	0	0	1	0	0	0	3316	536	19	1	399	1	CFHR3	1	196749062	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	27224639	196749062	52501559	3	47382											
PPM1B	5495	broad.mit.edu	37	chr2	44457550	44457550	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggtcttgaatcttaaaaaaAggcctccgatgaagcagagg	14	8	12	7	1	2	3	0	2	2	1	3	4	3	3	2	3	1	1	2	3	6	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:44457550A>G	ENST00000282412.4	+	6	1546		c.e6-1		PPM1B_ENST00000345249.4_Splice_Site|PPM1B_ENST00000378551.2_Intron|PPM1B_ENST00000409432.3_3'UTR|PPM1B_ENST00000378540.4_Intron	NM_002706.4	NP_002697.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B						protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTTAAAAAAAGGCCTCCGAT	0.393													G	44457550	A	G	44457550	5	3	543	1	0	0	0	0	0	0	1	0	12418	86	3	3	1184	3	PPM1B	2	44457550	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08		44457550	198741823	4	47383											
SPTBN1	6711	broad.mit.edu	37	chr2	54859857	54859857	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctggtgagcgatgggaAcatcaactcagatcgcatcc	11	7	13	10	2	2	2	2	1	0	1	4	5	3	3	1	3	3	2	1	3	2	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:54859857A>G	ENST00000333896.5	+	16	4065	c.3680A>G	c.(3679-3681)aAc>aGc	p.N1227S	SPTBN1_ENST00000356805.4_Missense_Mutation_p.N1240S	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1240					actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			AGCGATGGGAACATCAACTCA	0.507													G	54859857	A	G	54859857	3	3	543	1	0	0	0	0	1	0	0	0	15215	43	2	3	3894	3	SPTBN1	2	54859857	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	10402307	54859857	188339516	5	47384											
SCN3A	6328	broad.mit.edu	37	chr2	165948831	165948831	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atagtgaagtagtagtgtctGagggagacgagcttcagcac	12	9	14	6	1	2	3	1	2	1	1	2	5	2	3	0	1	2	4	0	1	4	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:165948831G>C	ENST00000360093.3	-	27	5231	c.4740C>G	c.(4738-4740)ctC>ctG	p.L1580L	SCN3A_ENST00000283254.7_Silent_p.L1580L|SCN3A_ENST00000465043.1_5'UTR|SCN3A_ENST00000409101.3_Silent_p.L1531L|SCN3A_ENST00000540861.1_Silent_p.L63L	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1580						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	AGTAGTGTCTGAGGGAGACGA	0.438													C	165948831	G	C	165948831	2	2	543	1	0	0	0	0	0	0	0	1	14011	1277	45	4		4	SCN3A	2	165948831	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	111088974	165948831	77250542	6	47385											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	543	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	43164281	209113112	34086261	7	47386											
ATG9A	79065	broad.mit.edu	37	chr2	220088460	220088460	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaggggtgtgacaatgggGctcagcaactcttccaaaat	12	9	12	8	0	2	2	1	2	1	0	3	2	3	2	1	4	2	2	1	4	4	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:220088460G>A	ENST00000409618.1	-	10	1885	c.1446C>T	c.(1444-1446)agC>agT	p.S482S	ATG9A_ENST00000361242.4_Silent_p.S482S|ATG9A_ENST00000409422.1_Silent_p.S421S|ATG9A_ENST00000396761.2_Silent_p.S482S			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	482					autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGACAATGGGGCTCAGCAACT	0.577													A	220088460	G	A	220088460	2	1	543	1	0	0	0	0	0	0	0	1	1107	1194	42	2		2	ATG9A	2	220088460	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	10975348	220088460	23110913	8	47387											
TRIP12	9320	broad.mit.edu	37	chr2	230638967	230638968	+	Frame_Shift_Del	DEL	CT	CT	-																															tttctaatgcatactgtagaCtctctttggtctaaaaaaca																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr2:230638967_230638968delCT	ENST00000283943.5	-	37	5492_5493	c.5314_5315delAG	c.(5314-5316)agtfs	p.S1772fs	TRIP12_ENST00000389045.3_Frame_Shift_Del_p.S1502fs|TRIP12_ENST00000389044.4_Frame_Shift_Del_p.S1820fs	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1772					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		ATACTGTAGACTCTCTTTGGTC	0.361													-	230638968	CT	-	230638967	7	5	543	1	0	1	0	1	0	0	0	0	16657	565	20	0	683	0	TRIP12	2	230638967	Frame_Shift_Del	DEL	CT	TCGA-HT-7677-01A-11D-2253-08	10550507	230638967	12560406	9	47388											
FGD5	152273	broad.mit.edu	37	chr3	14862573	14862573	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgacgtttaagaagaagacGgagaacaaattgcatgtgga	16	8	12	5	2	0	5	0	1	0	4	0	7	0	6	0	2	2	2	0	2	5	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:14862573G>A	ENST00000285046.5	+	1	2105	c.1995G>A	c.(1993-1995)acG>acA	p.T665T	FGD5_ENST00000543601.1_Silent_p.T424T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	665					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						AGAAGAAGACGGAGAACAAAT	0.512													A	14862573	G	A	14862573	2	1	543	1	0	0	0	0	0	0	0	1	5885	1103	39	1		1	FGD5	3	14862573	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		14862573	183159857	10	47389											
XIRP1	165904	broad.mit.edu	37	chr3	39227360	39227360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcccccaggctcctcccGccctggcccagtactctgac	5	6	9	21	1	1	1	0	1	1	0	3	1	3	1	6	2	2	3	6	2	1	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr3:39227360G>A	ENST00000340369.3	-	2	3805	c.3577C>T	c.(3577-3579)Cgg>Tgg	p.R1193W	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1193							actin binding	p.R1193W(1)		breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCTCCTCCCGCCCTGGCCCA	0.677													A	39227360	G	A	39227360	3	1	543	1	0	0	0	0	1	0	0	0	17531	1086	38	1	1958	1	XIRP1	3	39227360	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24364787	39227360	158795070	11	47390											
TRIML1	339976	broad.mit.edu	37	chr4	189061052	189061052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgagcagggtggaagcGccttcgtagcccagagccat	10	6	14	11	3	0	2	0	1	0	1	1	4	0	3	3	2	4	2	3	2	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr4:189061052G>A	ENST00000332517.3	+	1	480	c.340G>A	c.(340-342)Gcc>Acc	p.A114T		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	114					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		GGGTGGAAGCGCCTTCGTAGC	0.622													A	189061052	G	A	189061052	3	1	543	1	0	0	0	0	1	0	0	0	16651	1087	38	1	342	1	TRIML1	4	189061052	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		189061052	2093224	12	47391											
RARS2	57038	broad.mit.edu	37	chr6	88229954	88229954	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaatacttgctgaaaatgCtttttttgtcctttatctgt	8	20	7	6	0	1	1	0	1	1	0	2	2	2	2	1	1	3	2	1	1	5	7			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:88229954C>A	ENST00000369536.5	-	13	1101	c.1056G>T	c.(1054-1056)aaG>aaT	p.K352N		NM_020320.3	NP_064716.2	Q5T160	SYRM_HUMAN	arginyl-tRNA synthetase 2, mitochondrial	352					arginyl-tRNA aminoacylation	mitochondrial matrix	arginine-tRNA ligase activity|ATP binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	22		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0456)		GCTGAAAATGCTTTTTTTGTC	0.328													A	88229954	C	A	88229954	3	1	543	1	0	0	0	0	1	0	0	0	13147	796	28	4	712	4	RARS2	6	88229954	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		88229954	82885113	13	47392											
FHL5	9457	broad.mit.edu	37	chr6	97053913	97053913	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgtgccatgttttgagaAggagtttgctcactactgca	8	15	11	7	0	1	1	1	1	0	1	1	3	1	2	1	1	4	4	1	1	2	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:97053913A>G	ENST00000326771.2	+	5	850	c.470A>G	c.(469-471)aAg>aGg	p.K157R	FHL5_ENST00000541107.1_Missense_Mutation_p.K157R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	157	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGTTTTGAGAAGGAGTTTGCT	0.383													G	97053913	A	G	97053913	3	3	543	1	0	0	0	0	1	0	0	0	5930	72	3	3	480	3	FHL5	6	97053913	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	8823959	97053913	74061154	14	47393											
EYA4	2070	broad.mit.edu	37	chr6	133783471	133783471	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgctatttttctgatatttAggccctatccacacattctt	9	18	4	10	0	2	1	0	1	2	0	3	1	3	1	2	1	1	1	2	1	4	9			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:133783471A>T	ENST00000367895.5	+	8	901		c.e8-1		EYA4_ENST00000531901.1_Splice_Site|EYA4_ENST00000430974.2_Splice_Site|EYA4_ENST00000452339.2_Splice_Site|EYA4_ENST00000355167.3_Splice_Site|EYA4_ENST00000355286.6_Splice_Site|EYA4_ENST00000525849.1_Splice_Site|EYA4_ENST00000431403.2_Splice_Site	NM_004100.4	NP_004091.3	O95677	EYA4_HUMAN	eyes absent homolog 4 (Drosophila)						anatomical structure morphogenesis|chromatin modification|DNA repair|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|skin(1)	48	Colorectal(23;0.221)			GBM - Glioblastoma multiforme(68;0.00457)|OV - Ovarian serous cystadenocarcinoma(155;0.0152)		TCTGATATTTAGGCCCTATCC	0.438													T	133783471	A	T	133783471	5	4	543	1	0	0	0	0	0	0	1	0	5373	434	15	5	462	5	EYA4	6	133783471	Splice_Site	SNP	A	TCGA-HT-7677-01A-11D-2253-08	36729558	133783471	37331596	15	47394											
ARID1B	57492	broad.mit.edu	37	chr6	157469999	157469999	+	Frame_Shift_Del	DEL	G	G	-																															cagcagggagggccaggaatGgggccgccaatgccaactgt																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr6:157469999delG	ENST00000346085.5	+	9	2794	c.2793delG	c.(2791-2793)atgfs	p.M931fs	ARID1B_ENST00000350026.5_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000275248.4_Frame_Shift_Del_p.M860fs|ARID1B_ENST00000367148.1_Frame_Shift_Del_p.M918fs|ARID1B_ENST00000478761.2_3'UTR	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	918					chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		GGCCAGGAATGGGGCCGCCAA	0.587													-	157469999	G	-	157469999	7	5	543	1	0	1	0	1	0	0	0	0	917	1348	47	0	2827	0	ARID1B	6	157469999	Frame_Shift_Del	DEL	G	TCGA-HT-7677-01A-11D-2253-08	23686528	157469999	13645068	16	47395											
NPSR1	387129	broad.mit.edu	37	chr7	34724169	34724169	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctctgtttcttgcagactgaGcaattgataactctgtgggt	8	15	10	8	0	3	3	0	2	3	1	3	3	3	3	0	1	3	3	0	1	2	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:34724169G>A	ENST00000360581.1	+	2	281	c.153G>A	c.(151-153)gaG>gaA	p.E51E	NPSR1_ENST00000359791.1_Silent_p.E51E|NPSR1_ENST00000381539.3_Silent_p.E51E|NPSR1-AS1_ENST00000419766.1_RNA|NPSR1_ENST00000381542.1_Silent_p.E51E|NPSR1_ENST00000465305.1_Silent_p.E51E|NPSR1_ENST00000531252.1_Silent_p.E51E|NPSR1_ENST00000381553.3_Silent_p.E51E	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	51						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	TGCAGACTGAGCAATTGATAA	0.433													A	34724169	G	A	34724169	2	1	543	1	0	0	0	0	0	0	0	1	10676	962	34	2		2	NPSR1	7	34724169	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08		34724169	124414494	17	47396											
GRB10	2887	broad.mit.edu	37	chr7	50686874	50686874	+	Frame_Shift_Del	DEL	T	T	-																															aggtaagactcaccatgggaTttttaaagaactcgtatttt																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:50686874delT	ENST00000403097.1	-	8	1532	c.752delA	c.(751-753)aatfs	p.N251fs	GRB10_ENST00000402497.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000357271.5_Frame_Shift_Del_p.N257fs|GRB10_ENST00000398812.2_Frame_Shift_Del_p.N257fs|GRB10_ENST00000335866.3_Frame_Shift_Del_p.N199fs|GRB10_ENST00000402578.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000439599.1_Frame_Shift_Del_p.N251fs|GRB10_ENST00000401949.1_Frame_Shift_Del_p.N257fs|GRB10_ENST00000407526.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000406641.1_Frame_Shift_Del_p.N199fs|GRB10_ENST00000398810.2_Frame_Shift_Del_p.N199fs			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	257					insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CACCATGGGATTTTTAAAGAA	0.408									Russell-Silver syndrome				-	50686874	T	-	50686874	7	5	543	1	0	1	0	1	0	0	0	0	6811	1493	52	0	1058	0	GRB10	7	50686874	Frame_Shift_Del	DEL	T	TCGA-HT-7677-01A-11D-2253-08	15962705	50686874	108451789	18	47397											
GAL3ST4	79690	broad.mit.edu	37	chr7	99764196	99764196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcctccaccctgtgggcGgtagccttttaccctagagg	5	10	13	13	1	0	1	0	0	0	1	1	1	1	1	5	4	3	1	5	4	3	4	rs116867043	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:99764196G>A	ENST00000360039.4	-	3	750	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GAL3ST4_ENST00000413800.1_Missense_Mutation_p.R120C|GAL3ST4_ENST00000411994.1_Intron|GAL3ST4_ENST00000423751.1_Intron|GAL3ST4_ENST00000482469.1_5'UTR|GAL3ST4_ENST00000426974.2_Intron	NM_024637.4	NP_078913.3	Q96RP7	G3ST4_HUMAN	galactose-3-O-sulfotransferase 4	120					cell-cell signaling|oligosaccharide metabolic process|proteoglycan biosynthetic process|sulfur compound metabolic process	Golgi cisterna membrane|integral to membrane|membrane fraction	3'-phosphoadenosine 5'-phosphosulfate binding|galactosylceramide sulfotransferase activity|proteoglycan sulfotransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(5)|prostate(1)|upper_aerodigestive_tract(1)	26	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CCCTGTGGGCGGTAGCCTTTT	0.612													A	99764196	G	A	99764196	3	1	543	1	0	0	0	0	1	0	0	0	6254	1116	39	1	1110	1	GAL3ST4	7	99764196	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	49077322	99764196	59374467	19	47398											
FLNC	2318	broad.mit.edu	37	chr7	128492959	128492959	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcaagcatgtcaccaacagcCccttcaagatcctggtgggg	10	7	11	13	0	2	1	2	0	0	1	3	1	3	1	4	3	3	2	4	3	3	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr7:128492959C>T	ENST00000325888.8	+	37	6343	c.6082C>T	c.(6082-6084)Ccc>Tcc	p.P2028S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P1995S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2028					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACCAACAGCCCCTTCAAGAT	0.617													T	128492959	C	T	128492959	3	4	543	1	0	0	0	0	1	0	0	0	5984	623	22	2	6228	2	FLNC	7	128492959	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	28728763	128492959	30645704	20	47399											
PSD3	23362	broad.mit.edu	37	chr8	18393449	18393449	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttccttgagaatgctgacaTacatttcatagcgggttttc	9	15	8	9	1	1	2	1	2	0	1	3	3	2	2	1	1	3	2	1	1	3	7			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:18393449T>C	ENST00000440756.2	-	16	3056	c.2954A>G	c.(2953-2955)tAt>tGt	p.Y985C	PSD3_ENST00000523619.1_Missense_Mutation_p.Y918C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y312C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y449C|PSD3_ENST00000327040.8_Missense_Mutation_p.Y983C			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	984					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		AATGCTGACATACATTTCATA	0.488													C	18393449	T	C	18393449	3	2	543	1	0	0	0	0	1	0	0	0	12733	1406	49	3	199	3	PSD3	8	18393449	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		18393449	127970573	21	47400											
PRKDC	5591	broad.mit.edu	37	chr8	48792204	48792204	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggtgaagaatggaagaaGagtgacagcttggccctgtg	11	8	16	6	0	0	5	0	2	0	3	0	6	0	6	1	3	1	2	1	3	4	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:48792204G>C	ENST00000314191.2	-	40	5136	c.5080C>G	c.(5080-5082)Ctt>Gtt	p.L1694V	PRKDC_ENST00000338368.3_Missense_Mutation_p.L1694V|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1695					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				AATGGAAGAAGAGTGACAGCT	0.463								Non-homologous end-joining					C	48792204	G	C	48792204	3	2	543	1	0	0	0	0	1	0	0	0	12607	942	33	4	7495	4	PRKDC	8	48792204	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	30398755	48792204	97571818	22	47401											
SOX17	64321	broad.mit.edu	37	chr8	55372386	55372386	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctcctcggggaggtggAccgcacggaatttgaacagt	9	7	15	10	4	0	1	0	1	0	0	2	5	1	4	2	5	2	2	2	5	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr8:55372386A>G	ENST00000297316.4	+	2	1280	c.1076A>G	c.(1075-1077)gAc>gGc	p.D359G		NM_022454.3	NP_071899.1	Q9H6I2	SOX17_HUMAN	SRY (sex determining region Y)-box 17	359	Sox C-terminal.				angiogenesis|cardiac cell fate determination|endocardial cell differentiation|endocardium formation|endoderm formation|heart formation|heart looping|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|outflow tract morphogenesis|positive regulation of transcription, DNA-dependent|protein destabilization|protein stabilization|regulation of embryonic development|renal system development|vasculogenesis|Wnt receptor signaling pathway	transcription factor complex	beta-catenin binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)	18		Lung NSC(129;0.109)|all_epithelial(80;0.176)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;1.9e-07)|Epithelial(17;1.7e-05)|all cancers(17;0.000159)			GGGGAGGTGGACCGCACGGAA	0.692													G	55372386	A	G	55372386	3	3	543	1	0	0	0	0	1	0	0	0	15041	275	10	3	1082	3	SOX17	8	55372386	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08	6580182	55372386	90991636	23	47402											
DMRTA1	63951	broad.mit.edu	37	chr9	22451627	22451627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taataaatcagctttctctcCtcttcaaactacttctgctt	10	17	2	12	0	5	0	2	0	3	0	7	0	6	0	1	0	4	2	1	0	5	7			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr9:22451627C>T	ENST00000325870.2	+	2	1457	c.1232C>T	c.(1231-1233)cCt>cTt	p.P411L		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1						cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		GCTTTCTCTCCTCTTCAAACT	0.408													T	22451627	C	T	22451627	3	4	543	1	0	0	0	0	1	0	0	0	4627	681	24	2	1238	2	DMRTA1	9	22451627	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		22451627	118761804	24	47403											
CYP2C19	1557	broad.mit.edu	37	chr10	96602618	96602618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggaagagattgaacGtgtcgttggcagaaaccgga	13	7	14	7	3	0	3	0	1	0	2	2	6	1	5	2	3	2	2	2	3	3	2	rs138142612		TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:96602618G>A	ENST00000371321.3	+	7	1068	c.986G>A	c.(985-987)cGt>cAt	p.R329H	CYP2C19_ENST00000464755.1_3'UTR	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19	329			R -> H (in allele CYP2C19*18).		exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	GAGATTGAACGTGTCGTTGGC	0.498													A	96602618	G	A	96602618	3	1	543	1	0	0	0	0	1	0	0	0	4199	1145	40	1	1012	1	CYP2C19	10	96602618	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		96602618	38932129	25	47404											
DOCK1	1793	broad.mit.edu	37	chr10	128850979	128850979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaagaactacgtggacGgtgctgagaagccgggagta	11	8	16	6	3	0	3	0	2	0	2	0	6	0	5	1	3	4	3	1	3	5	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr10:128850979G>A	ENST00000280333.6	+	22	2282	c.2173G>A	c.(2173-2175)Ggt>Agt	p.G725S		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	725					apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	p.G725C(1)		NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		CTACGTGGACGGTGCTGAGAA	0.433													A	128850979	G	A	128850979	3	1	543	1	0	0	0	0	1	0	0	0	4723	1116	39	1	2259	1	DOCK1	10	128850979	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	32248361	128850979	6683768	26	47405											
OR52B6	340980	broad.mit.edu	37	chr11	5603034	5603034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcctatgctcaatcccGttatttatggagtgaggact	8	15	8	10	1	1	1	1	1	0	0	4	3	4	3	3	2	1	2	3	2	4	5			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr11:5603034G>A	ENST00000345043.2	+	1	928	c.928G>A	c.(928-930)Gtt>Att	p.V310I	HBG2_ENST00000380259.2_Intron|AC015691.13_ENST00000394793.2_RNA	NM_001005162.2	NP_001005162.2	Q8NGF0	O52B6_HUMAN	olfactory receptor, family 52, subfamily B, member 6	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;3.56e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCTCAATCCCGTTATTTATGG	0.443													A	5603034	G	A	5603034	3	1	543	1	0	0	0	0	1	0	0	0	11189	1145	40	1	930	1	OR52B6	11	5603034	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		5603034	129403482	27	47406											
LTBR	4055	broad.mit.edu	37	chr12	6499942	6499942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagacctcccagctacccccGaacctccataccccattccc	9	6	4	22	1	0	1	0	0	0	1	3	3	3	1	9	0	4	1	9	0	3	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:6499942G>A	ENST00000228918.4	+	10	1473	c.1147G>A	c.(1147-1149)Gaa>Aaa	p.E383K	LTBR_ENST00000541102.1_Missense_Mutation_p.E240K|LTBR_ENST00000539925.1_Missense_Mutation_p.E364K	NM_002342.2	NP_002333.1	P36941	TNR3_HUMAN	lymphotoxin beta receptor (TNFR superfamily, member 3)	383					apoptosis|cellular response to mechanical stimulus|interspecies interaction between organisms|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	protein binding|receptor activity			breast(1)|cervix(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	15						AGCTACCCCCGAACCTCCATA	0.612													A	6499942	G	A	6499942	3	1	543	1	0	0	0	0	1	0	0	0	9147	1059	37	1	1185	1	LTBR	12	6499942	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		6499942	127351953	28	47407											
EMG1	10436	broad.mit.edu	37	chr12	7083747	7083747	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggatagtcccctgaacCgagctggcttgctacaggtt	8	11	12	10	1	0	2	0	2	0	0	1	4	1	3	3	3	4	4	3	3	3	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:7083747C>T	ENST00000261406.6	+	4	444	c.301C>T	c.(301-303)Cga>Tga	p.R101*	EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										TCCCCTGAACCGAGCTGGCTT	0.493													T	7083747	C	T	7083747	4	4	543	1	0	0	0	0	0	1	0	0	5131	644	23	1	313	1	EMG1	12	7083747	Nonsense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	583805	7083747	126768148	29	47408											
STRAP	11171	broad.mit.edu	37	chr12	16036493	16036493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggtaaacctatgctacGccagggagatacaggagact	14	7	12	8	1	0	3	0	0	0	3	0	5	0	3	2	3	4	2	2	3	5	4			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:16036493G>A	ENST00000419869.2	+	2	444	c.131G>A	c.(130-132)cGc>cAc	p.R44H	STRAP_ENST00000025399.6_Missense_Mutation_p.R57H|STRAP_ENST00000538352.1_Intron	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	44					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				CCTATGCTACGCCAGGGAGAT	0.358													A	16036493	G	A	16036493	3	1	543	1	0	0	0	0	1	0	0	0	15422	1087	38	1	137	1	STRAP	12	16036493	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	8952746	16036493	117815402	30	47409											
KRT75	9119	broad.mit.edu	37	chr12	52822506	52822506	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcatccccatgtctgcctgCggtgacctgcagctcctcgt	4	11	10	16	2	2	1	1	1	1	0	5	1	4	1	5	1	4	2	5	1	0	0	rs140579691	byFrequency	TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:52822506C>T	ENST00000252245.5	-	6	1277	c.1057G>A	c.(1057-1059)Gca>Aca	p.A353T		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	353	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TGTCTGCCTGCGGTGACCTGC	0.547													T	52822506	C	T	52822506	3	4	543	1	0	0	0	0	1	0	0	0	8546	768	27	1	614	1	KRT75	12	52822506	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08	36786013	52822506	81029389	31	47410											
HVCN1	84329	broad.mit.edu	37	chr12	111099098	111099098	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcgcctgagactggtgtGggtggtggctgctcctcctc	2	12	14	13	1	0	1	0	1	0	1	5	2	3	1	4	4	1	2	4	4	0	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:111099098G>C	ENST00000356742.5	-	3	930	c.177C>G	c.(175-177)ccC>ccG	p.P59P	HVCN1_ENST00000242607.8_Silent_p.P59P|HVCN1_ENST00000439744.2_Silent_p.P39P|HVCN1_ENST00000548312.1_Silent_p.P59P			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	59					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGACTGGTGTGGGTGGTGGCT	0.622													C	111099098	G	C	111099098	2	2	543	1	0	0	0	0	0	0	0	1	7520	1335	47	4		4	HVCN1	12	111099098	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	58276592	111099098	22752797	32	47411											
UBC	7316	broad.mit.edu	37	chr12	125397147	125397147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacctcgagagtgatggtctTaccagtcagggtcttcacga	9	10	11	11	2	4	2	2	1	2	1	5	4	4	2	2	2	1	0	2	2	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr12:125397147T>C	ENST00000536769.1	-	1	2747	c.1171A>G	c.(1171-1173)Aag>Gag	p.K391E	UBC_ENST00000339647.5_Missense_Mutation_p.K391E|UBC_ENST00000546120.1_Missense_Mutation_p.K315E|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	391	Ubiquitin-like 6.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTGATGGTCTTACCAGTCAGG	0.527													C	125397147	T	C	125397147	3	2	543	1	0	0	0	0	1	0	0	0	16944	1763	61	3	890	3	UBC	12	125397147	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08	14298049	125397147	8454748	33	47412											
OXGR1	27199	broad.mit.edu	37	chr13	97639669	97639669	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatgctgctatacaggttGaaatggaagctgaagcggat	13	9	14	5	1	0	2	0	2	0	0	0	5	0	5	0	4	5	4	0	4	5	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr13:97639669G>T	ENST00000298440.1	-	4	588	c.345C>A	c.(343-345)ttC>ttA	p.F115L	OXGR1_ENST00000543457.1_Missense_Mutation_p.F115L	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	115						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TATACAGGTTGAAATGGAAGC	0.453													T	97639669	G	T	97639669	3	4	543	1	0	0	0	0	1	0	0	0	11408	1281	45	4	672	4	OXGR1	13	97639669	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		97639669	17530209	34	47413											
PTPN9	5780	broad.mit.edu	37	chr15	75761319	75761319	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagatgtccagtgagcagaAggtacctgaagaaggaagga	15	5	15	6	0	0	5	0	2	0	3	1	7	1	7	2	3	2	3	2	3	5	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr15:75761319A>C	ENST00000306726.2	-	13	2085	c.1573T>G	c.(1573-1575)Ttc>Gtc	p.F525V		NM_002833.2	NP_002824.1	P43378	PTN9_HUMAN	protein tyrosine phosphatase, non-receptor type 9	525	Tyrosine-protein phosphatase.					cytoplasmic part	non-membrane spanning protein tyrosine phosphatase activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGTGAGCAGAAGGTACCTGAA	0.512													C	75761319	A	C	75761319	3	2	543	1	0	0	0	0	1	0	0	0	12882	72	3	5	212	5	PTPN9	15	75761319	Missense_Mutation	SNP	A	TCGA-HT-7677-01A-11D-2253-08		75761319	26770073	35	47414											
TRAF7	84231	broad.mit.edu	37	chr16	2223509	2223509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaaaaccagagcaagcTcagcgaggacctcatggagt	14	4	13	10	2	2	1	2	0	0	1	2	6	2	4	2	3	4	2	2	3	3	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:2223509T>C	ENST00000326181.6	+	11	1172	c.1040T>C	c.(1039-1041)cTc>cCc	p.L347P		NM_032271.2	NP_115647.2	Q6Q0C0	TRAF7_HUMAN	TNF receptor-associated factor 7, E3 ubiquitin protein ligase	347					activation of MAPKKK activity|apoptosis|regulation of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic membrane-bounded vesicle|ubiquitin ligase complex	identical protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	23						CAGAGCAAGCTCAGCGAGGAC	0.682													C	2223509	T	C	2223509	3	2	543	1	0	0	0	0	1	0	0	0	16547	1551	54	3	1078	3	TRAF7	16	2223509	Missense_Mutation	SNP	T	TCGA-HT-7677-01A-11D-2253-08		2223509	88131244	36	47415											
SIAH1	6477	broad.mit.edu	37	chr16	48396223	48396224	+	Frame_Shift_Del	DEL	AA	AA	-																															tcaaagcagactggacactcAaaaagactcgccaagtcatt																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:48396223_48396224delAA	ENST00000380006.2	-	1	1569_1570	c.116_117delTT	c.(115-117)tttfs	p.F39fs	SIAH1_ENST00000394725.2_Frame_Shift_Del_p.F39fs|SIAH1_ENST00000356721.3_Frame_Shift_Del_p.F70fs			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	39					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTGGACACTCAAAAAGACTCGC	0.51													-	48396224	AA	-	48396223	7	5	543	1	0	1	0	1	0	0	0	0	14393	127	5	0	735	0	SIAH1	16	48396223	Frame_Shift_Del	DEL	AA	TCGA-HT-7677-01A-11D-2253-08	46172714	48396223	41958530	37	47416											
DHODH	1723	broad.mit.edu	37	chr16	72057134	72057134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctccagggtgccctgcGctctgaaacaggagggctga	7	6	16	12	1	1	2	0	2	1	0	2	3	2	3	3	4	3	2	3	4	1	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:72057134G>A	ENST00000572887.1	+	7	1067	c.890G>A	c.(889-891)cGc>cAc	p.R297H	DHODH_ENST00000219240.4_Missense_Mutation_p.R297H|DHODH_ENST00000573922.1_3'UTR			Q02127	PYRD_HUMAN	dihydroorotate dehydrogenase (quinone)	297					'de novo' pyrimidine base biosynthetic process|pyrimidine nucleoside biosynthetic process|UMP biosynthetic process	integral to membrane|mitochondrial inner membrane	dihydroorotate oxidase activity			breast(1)|endometrium(2)|large_intestine(4)|ovary(1)|skin(1)|stomach(1)	10		Ovarian(137;0.125)			Atovaquone(DB01117)|Leflunomide(DB01097)	GGTGCCCTGCGCTCTGAAACA	0.562													A	72057134	G	A	72057134	3	1	543	1	0	0	0	0	1	0	0	0	4523	1087	38	1	916	1	DHODH	16	72057134	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	23660911	72057134	18297619	38	47417											
IL17C	27189	broad.mit.edu	37	chr16	88705399	88705399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtttcaccagctcctccccgGcctcctgtttctgacctggc	3	12	8	18	1	2	1	1	1	1	0	5	1	5	1	7	2	1	3	7	2	0	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr16:88705399G>A	ENST00000244241.4	+	2	66	c.17G>A	c.(16-18)gGc>gAc	p.G6D		NM_013278.3	NP_037410.1	Q9P0M4	IL17C_HUMAN	interleukin 17C	6					cell surface receptor linked signaling pathway|cell-cell signaling|inflammatory response	extracellular space|soluble fraction	cytokine activity			large_intestine(1)|lung(1)	2				BRCA - Breast invasive adenocarcinoma(80;0.0477)		CTCCTCCCCGGCCTCCTGTTT	0.642													A	88705399	G	A	88705399	3	1	543	1	0	0	0	0	1	0	0	0	7694	1203	42	2	23	2	IL17C	16	88705399	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	16648265	88705399	1649354	39	47418											
TBX2	6909	broad.mit.edu	37	chr17	59482747	59482748	+	Frame_Shift_Ins	INS	-	-	G																															aggagccggccgagagcggcINSggggacggcccgttcggcct																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr17:59482747_59482748insG	ENST00000240328.3	+	6	1517_1518	c.1236_1237insG	c.(1237-1239)gggfs	p.G413fs	RP11-332H18.4_ENST00000592009.1_RNA	NM_005994.3	NP_005985.3	Q13207	TBX2_HUMAN	T-box 2	413					cell aging|positive regulation of cell proliferation		sequence-specific DNA binding			endometrium(1)|lung(7)|ovary(1)	9						CCGAGAGCGGCGGGGACGGCCC	0.748													G	59482748	-	G	59482747	7	5	543	1	0	1	1	0	0	0	0	0	15755	755	27	0	1258	0	TBX2	17	59482747	Frame_Shift_Ins	INS	-	TCGA-HT-7677-01A-11D-2253-08		59482747	21712463	40	47419											
DSC2	1824	broad.mit.edu	37	chr18	28650804	28650804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaagccccacagaccagcGtaaacaggatgcctggagga	14	3	12	12	1	0	2	0	0	0	2	0	5	0	5	4	3	4	1	4	3	3	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr18:28650804G>A	ENST00000280904.6	-	14	2581	c.2138C>T	c.(2137-2139)aCg>aTg	p.T713M	DSC2_ENST00000251081.6_Missense_Mutation_p.T713M	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	713					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			ACAGACCAGCGTAAACAGGAT	0.363													A	28650804	G	A	28650804	3	1	543	1	0	0	0	0	1	0	0	0	4805	1145	40	1	619	1	DSC2	18	28650804	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08		28650804	49426444	41	47420											
MIDN	90007	broad.mit.edu	37	chr19	1255053	1255053	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggggtcttctcagggacCttctctggtaggtgtcacag	5	11	14	11	1	4	0	2	0	3	0	6	1	4	1	2	5	0	1	2	5	1	3			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:1255053C>T	ENST00000300952.2	+	6	1364	c.849C>T	c.(847-849)acC>acT	p.T283T	MIDN_ENST00000591446.2_Silent_p.T283T	NM_177401.4	NP_796375.3	Q504T8	MIDN_HUMAN	midnolin	283						nucleolus				NS(1)|endometrium(3)|kidney(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		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)		TCTCAGGGACCTTCTCTGGTA	0.617													T	1255053	C	T	1255053	2	4	543	1	0	0	0	0	0	0	0	1	9654	668	24	2		2	MIDN	19	1255053	Silent	SNP	C	TCGA-HT-7677-01A-11D-2253-08		1255053	57873930	42	47421											
ZSWIM4	65249	broad.mit.edu	37	chr19	13939496	13939496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacgtaatgacctggcggcGgagggagatggtgcgctggc	8	6	19	8	4	0	2	0	1	0	1	0	5	0	3	1	6	2	2	1	6	2	1			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:13939496G>A	ENST00000254323.2	+	12	2255	c.2066G>A	c.(2065-2067)cGg>cAg	p.R689Q	ZSWIM4_ENST00000440752.2_Missense_Mutation_p.R523Q	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	689							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			ACCTGGCGGCGGAGGGAGATG	0.622													A	13939496	G	A	13939496	3	1	543	1	0	0	0	0	1	0	0	0	18340	1116	39	1	2112	1	ZSWIM4	19	13939496	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	12684443	13939496	45189487	43	47422											
OR7A17	26333	broad.mit.edu	37	chr19	14991283	14991284	+	Frame_Shift_Del	DEL	TT	TT	-																															ttcagagccctctttatgtcTttattcctcagactgtagat																										TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:14991283_14991284delTT	ENST00000327462.2	-	1	980_981	c.884_885delAA	c.(883-885)aaafs	p.K295fs		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	295					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					TCTTTATGTCTTTATTCCTCAG	0.436													-	14991284	TT	-	14991283	7	5	543	1	0	1	0	1	0	0	0	0	11291	1606	56	0	46	0	OR7A17	19	14991283	Frame_Shift_Del	DEL	TT	TCGA-HT-7677-01A-11D-2253-08	1051787	14991283	44137700	44	47423											
FCHO1	23149	broad.mit.edu	37	chr19	17886277	17886277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcccctagacatgtccagagGtggatgaagaaggtttcact	11	10	11	9	0	1	4	1	1	0	3	3	5	3	5	3	3	0	1	3	3	3	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:17886277G>A	ENST00000594202.1	+	15	1237	c.958G>A	c.(958-960)Gtg>Atg	p.V320M	FCHO1_ENST00000252771.7_Missense_Mutation_p.V320M|FCHO1_ENST00000539407.1_Missense_Mutation_p.V320M|FCHO1_ENST00000389133.4_Missense_Mutation_p.V320M|FCHO1_ENST00000596536.1_Missense_Mutation_p.V320M|FCHO1_ENST00000600676.1_Missense_Mutation_p.V320M|FCHO1_ENST00000595033.1_Missense_Mutation_p.V270M|FCHO1_ENST00000597512.1_Missense_Mutation_p.V327M|FCHO1_ENST00000596951.1_Missense_Mutation_p.V320M	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	320										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						ATGTCCAGAGGTGGATGAAGA	0.597											OREG0025349	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	17886277	G	A	17886277	3	1	543	1	0	0	0	0	1	0	0	0	5836	1261	44	2	1004	2	FCHO1	19	17886277	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	2894994	17886277	41242706	45	47424											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:42799051G>T	ENST00000572681.2	+	21	7321	c.7253G>T	c.(7252-7254)cGt>cTt	p.R2418L	CIC_ENST00000160740.3_Missense_Mutation_p.R1510L|CIC_ENST00000575354.2_Missense_Mutation_p.R1512L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								T	42799051	G	T	42799051	3	4	543	1	0	0	0	0	1	0	0	0	3454	1145	40	4	4613	4	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	24912774	42799051	16329932	46	47425											
CA11	770	broad.mit.edu	37	chr19	49143394	49143394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgatgttccgagccGgctccgtcgcgagctccaaa	7	10	11	13	5	1	2	0	2	1	0	5	4	4	2	4	1	2	3	4	1	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr19:49143394G>A	ENST00000084798.4	-	4	1108	c.429C>T	c.(427-429)gcC>gcT	p.A143A	SEC1P_ENST00000430145.2_RNA	NM_001217.3	NP_001208.2	O75493	CAH11_HUMAN	carbonic anhydrase XI	143						extracellular region				breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	14		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000103)|all cancers(93;0.000119)|GBM - Glioblastoma multiforme(486;0.00634)|Epithelial(262;0.016)		GTTCCGAGCCGGCTCCGTCGC	0.607													A	49143394	G	A	49143394	2	1	543	1	0	0	0	0	0	0	0	1	2538	1103	39	1		1	CA11	19	49143394	Silent	SNP	G	TCGA-HT-7677-01A-11D-2253-08	6344343	49143394	9985589	47	47426											
ADAMTS5	11096	broad.mit.edu	37	chr21	28302301	28302301	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagctttgagccaatgatgCcgtcacagccagttctcaca	10	9	9	13	1	2	2	2	2	1	0	3	2	2	2	3	0	4	3	3	0	1	2			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:28302301C>G	ENST00000284987.5	-	7	2250	c.2129G>C	c.(2128-2130)gGc>gCc	p.G710A	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	710	Cys-rich.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						GCCAATGATGCCGTCACAGCC	0.473													G	28302301	C	G	28302301	3	3	543	1	0	0	0	0	1	0	0	0	269	739	26	4	671	4	ADAMTS5	21	28302301	Missense_Mutation	SNP	C	TCGA-HT-7677-01A-11D-2253-08		28302301	19827594	48	47427											
MRAP	56246	broad.mit.edu	37	chr21	33684248	33684248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaatgggggtcccctcGtcaggagcaagcccagcgag	8	5	13	15	2	2	0	2	0	0	0	4	2	3	1	4	3	3	1	4	3	2	0			TCGA-HT-7677-01A-11D-2253-08	TCGA-HT-7677-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7a4bfd9a-4a16-41c9-91cb-97351c76ab0e	d27dc741-a306-47c4-a333-155ac43c9484	g.chr21:33684248G>A	ENST00000399784.2	+	5	647	c.460G>A	c.(460-462)Gtc>Atc	p.V154I	URB1_ENST00000382751.3_3'UTR|MRAP_ENST00000339944.4_Intron|MRAP_ENST00000497833.1_3'UTR|MRAP_ENST00000303645.5_Missense_Mutation_p.V154I|MRAP_ENST00000399786.3_Intron	NM_178817.3	NP_848932.1	Q8TCY5	MRAP_HUMAN	melanocortin 2 receptor accessory protein	154					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|integral to membrane|perinuclear region of cytoplasm|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			endometrium(1)|large_intestine(2)|lung(3)	6						GGGTCCCCTCGTCAGGAGCAA	0.602													A	33684248	G	A	33684248	3	1	543	1	0	0	0	0	1	0	0	0	9829	1145	40	1	470	1	MRAP	21	33684248	Missense_Mutation	SNP	G	TCGA-HT-7677-01A-11D-2253-08	5381947	33684248	14445647	49	47428											
INSRR	3645	broad.mit.edu	37	chr1	156823629	156823629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctcaccagcagcaccCagcacaccagggcacacgtc	11	2	10	18	1	1	0	1	0	0	0	2	0	1	0	3	2	3	5	3	2	0	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:156823629C>T	ENST00000368195.3	-	2	948	c.552G>A	c.(550-552)ctG>ctA	p.L184L	NTRK1_ENST00000392302.2_Intron	NM_014215.2	NP_055030.1	P14616	INSRR_HUMAN	insulin receptor-related receptor	184					protein autophosphorylation|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|insulin receptor substrate binding|metal ion binding|phosphatidylinositol 3-kinase binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(7)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	42	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CAGCAGCACCCAGCACACCAG	0.637													T	156823629	C	T	156823629	2	4	544	1	0	0	0	0	0	0	0	1	7832	581	21	2		2	INSRR	1	156823629	Silent	SNP	C	TCGA-HT-7680-01A-11D-2253-08		156823629	92426992	1	47429											
CD244	51744	broad.mit.edu	37	chr1	160811160	160811160	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggatcagcttgctccctctGtaccaagcataggacacatt	10	11	8	12	0	2	0	1	0	1	0	3	2	3	2	2	2	4	4	2	2	3	4			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr1:160811160G>A	ENST00000368034.4	-	3	672	c.495C>T	c.(493-495)taC>taT	p.Y165Y	CD244_ENST00000322302.7_Intron|CD244_ENST00000368033.3_Silent_p.Y170Y|CD244_ENST00000368032.2_Silent_p.Y165Y	NM_001166663.1|NM_001166664.1|NM_016382.3	NP_001160135.1|NP_001160136.1|NP_057466.1	Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	170	Ig-like 2.				blood coagulation|leukocyte migration	integral to membrane|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			TGCTCCCTCTGTACCAAGCAT	0.547													A	160811160	G	A	160811160	2	1	544	1	0	0	0	0	0	0	0	1	3017	1372	48	2		2	CD244	1	160811160	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08	3987531	160811160	88439461	2	47430											
TBCCD1	55171	broad.mit.edu	37	chr3	186268998	186268998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggctgtccagctgttggcGatgtcctgtattaatcaacc	9	12	10	10	1	1	0	1	0	0	0	3	1	3	0	3	2	2	4	3	2	4	3			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr3:186268998G>A	ENST00000424280.1	-	7	2094	c.1615C>T	c.(1615-1617)Cgc>Tgc	p.R539C	TBCCD1_ENST00000338733.5_Missense_Mutation_p.R539C|TBCCD1_ENST00000446782.1_Missense_Mutation_p.R443C	NM_001134415.1	NP_001127887.1	Q9NVR7	TBCC1_HUMAN	TBCC domain containing 1	539					cell morphogenesis|maintenance of centrosome location|maintenance of Golgi location|regulation of cell migration|regulation of cell shape	spindle pole centrosome	binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|skin(1)	17	all_cancers(143;3.75e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.3e-21)	GBM - Glioblastoma multiforme(93;0.0474)		AGCTGTTGGCGATGTCCTGTA	0.428													A	186268998	G	A	186268998	3	1	544	1	0	0	0	0	1	0	0	0	15732	1058	37	1	62	1	TBCCD1	3	186268998	Missense_Mutation	SNP	G	TCGA-HT-7680-01A-11D-2253-08		186268998	11753432	3	47431											
PLRG1	5356	broad.mit.edu	37	chr4	155459182	155459182	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaataatagcattatgaccGgaaagattttgaatgaaact	17	13	7	4	1	0	4	0	3	0	1	0	5	0	5	1	1	2	1	1	1	7	6	rs146078897		TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr4:155459182G>A	ENST00000499023.2	-	13	1356	c.1230C>T	c.(1228-1230)tcC>tcT	p.S410S	PLRG1_ENST00000302078.5_Silent_p.S401S|PLRG1_ENST00000393905.2_Silent_p.S410S	NM_001201564.1|NM_002669.3	NP_001188493.1|NP_002660.1	O43660	PLRG1_HUMAN	pleiotropic regulator 1	410						catalytic step 2 spliceosome|nuclear speck	protein binding|signal transducer activity|transcription corepressor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|skin(1)|urinary_tract(1)	22	all_hematologic(180;0.215)	Renal(120;0.0854)				CATTATGACCGGAAAGATTTT	0.303													A	155459182	G	A	155459182	2	1	544	1	0	0	0	0	0	0	0	1	12183	1103	39	1		1	PLRG1	4	155459182	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		155459182	35695094	4	47432											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	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.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597													A	132547141	G	A	132547141	2	1	544	1	0	0	0	0	0	0	0	1	5190	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7680-01A-11D-2253-08		132547141	1304754	5	47433											
LRRK1	79705	broad.mit.edu	37	chr15	101514014	101514014	+	Frame_Shift_Del	DEL	G	G	-																															cttcctcccgcgcaggtgccGgggacacgggcggcaagccg																										TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr15:101514014delG	ENST00000284395.5	+	3	422	c.22delG	c.(22-24)gggfs	p.G8fs	LRRK1_ENST00000388948.3_Frame_Shift_Del_p.G35fs|LRRK1_ENST00000532029.2_Frame_Shift_Del_p.G35fs			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	35					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CGCAGGTGCCGGGGACACGGG	0.741													-	101514014	G	-	101514014	7	5	544	1	0	1	0	1	0	0	0	0	9102	1116	39	0	109	0	LRRK1	15	101514014	Frame_Shift_Del	DEL	G	TCGA-HT-7680-01A-11D-2253-08		101514014	1017378	6	47434											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572367	38572368	+	In_Frame_Ins	INS	-	-	GCCACC																															agcctcttggcgagagcccgINSgccaccgccaccgccaccgc																										TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:38572367_38572368insGCCACC	ENST00000222345.6	+	3	671_672	c.162_163insGCCACC	c.(163-165)gcc>GCCACCgcc	p.55_55A>ATA		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	55					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			GCGAGAGCCCGgccaccgccac	0.718													GCCACC	38572368	-	GCCACC	38572367	7	5	544	1	0	1	1	0	0	0	0	0	14425	1103	39	0	164	0	SIPA1L3	19	38572367	In_Frame_Ins	INS	-	TCGA-HT-7680-01A-11D-2253-08		38572367	20556616	7	47435											
PRR12	57479	broad.mit.edu	37	chr19	50105084	50105084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcagtgtgtggggagaCggacgaggaggccggcgaga	8	3	23	7	5	0	2	0	0	0	2	0	7	0	4	1	8	0	1	1	8	0	0			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chr19:50105084C>T	ENST00000418929.2	+	6	4694	c.4682C>T	c.(4681-4683)aCg>aTg	p.T1561M		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	740							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TGTGGGGAGACGGACGAGGAG	0.682													T	50105084	C	T	50105084	3	4	544	1	0	0	0	0	1	0	0	0	12670	536	19	1	4704	1	PRR12	19	50105084	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08	11532717	50105084	9023899	8	47436											
SEPT6	23157	broad.mit.edu	37	chrX	118771068	118771068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgatacagctcatagtgcCgggtgtgggtctgctcccgc	5	9	15	12	3	2	0	1	0	1	0	3	1	3	0	2	3	4	2	2	3	2	2			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chrX:118771068C>T	ENST00000394610.1	-	7	1142	c.878G>A	c.(877-879)cGg>cAg	p.R293Q	SEPT6_ENST00000360156.7_Missense_Mutation_p.R293Q|SEPT6_ENST00000394616.4_Missense_Mutation_p.R235Q|SEPT6_ENST00000354228.4_Missense_Mutation_p.R293Q|SEPT6_ENST00000394617.2_Missense_Mutation_p.R323Q|SEPT6_ENST00000489216.1_Missense_Mutation_p.R293Q|SEPT6_ENST00000343984.5_Missense_Mutation_p.R293Q|SEPT6_ENST00000354416.3_Missense_Mutation_p.R293Q	NM_145799.3	NP_665798.1	Q14141	SEPT6_HUMAN	septin 6	293					cell cycle|cytokinesis|interspecies interaction between organisms	cleavage furrow|condensed chromosome kinetochore|midbody|septin complex|spindle	GTP binding|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(3)	17						CTCATAGTGCCGGGTGTGGGT	0.587			T	MLL	AML								T	118771068	C	T	118771068	3	4	544	1	0	0	0	0	1	0	0	0	14161	652	23	1	464	1	SEPT6	23	118771068	Missense_Mutation	SNP	C	TCGA-HT-7680-01A-11D-2253-08		118771068	36499492	9	47437											
MAMLD1	10046	broad.mit.edu	37	chrX	149639635	149639635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgccaccttgcagctgcAgcagcagcagcagcaacagc	11	4	10	16	0	0	0	0	0	0	0	0	0	0	0	2	0	11	8	2	0	1	1			TCGA-HT-7680-01A-11D-2253-08	TCGA-HT-7680-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ad1dd18-303c-4f67-ac35-4ab89739f2bd	58445e52-52f3-46b7-ad9e-545dc18f369f	g.chrX:149639635A>T	ENST00000370401.2	+	4	2100	c.1790A>T	c.(1789-1791)cAg>cTg	p.Q597L	MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q597L|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q572L|MAMLD1_ENST00000455522.2_Missense_Mutation_p.Q78L			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	597	Poly-Gln.				male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					TTgcagctgcagcagcagcag	0.607													T	149639635	A	T	149639635	3	4	544	1	0	0	0	0	1	0	0	0	9283	188	7	5	1800	5	MAMLD1	23	149639635	Missense_Mutation	SNP	A	TCGA-HT-7680-01A-11D-2253-08	30868567	149639635	5630925	10	47438											
ZNF687	57592	broad.mit.edu	37	chr1	151258917	151258917	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaccaggtgtaggaagtgaAtctgaagacacagcagcagc	15	5	13	8	0	1	3	0	2	1	1	1	5	1	4	1	2	4	3	1	2	5	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:151258917A>G	ENST00000368879.2	+	2	248	c.150A>G	c.(148-150)gaA>gaG	p.E50E		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	50					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			TAGGAAGTGAATCTGAAGACA	0.572													G	151258917	A	G	151258917	2	3	545	1	0	0	0	0	0	0	0	1	18193	98	4	3		3	ZNF687	1	151258917	Silent	SNP	A	TCGA-HT-7681-01A-11D-2395-08		151258917	97991704	1	47439											
BCAN	63827	broad.mit.edu	37	chr1	156628820	156628820	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtgtgtgtcttccccaggCccgagctctgcacccagagg	6	8	13	14	1	2	1	0	0	2	1	3	3	3	1	4	2	2	2	4	2	0	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:156628820C>A	ENST00000329117.5	+	14	2966	c.2630C>A	c.(2629-2631)gCc>gAc	p.A877D	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican						cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CTTCCCCAGGCCCGAGCTCTG	0.627													A	156628820	C	A	156628820	5	1	545	1	0	0	0	0	0	0	1	0	1350	753	26	4	2754	4	BCAN	1	156628820	Splice_Site	SNP	C	TCGA-HT-7681-01A-11D-2395-08	5369903	156628820	92621801	2	47440											
RNPEP	6051	broad.mit.edu	37	chr1	201966606	201966606	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgggaacctggtcaccaaCgccaactggggtgaattctg	9	10	12	10	1	2	1	1	1	1	0	2	2	2	2	3	4	3	0	3	4	4	2			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr1:201966606C>T	ENST00000295640.4	+	5	1057	c.1014C>T	c.(1012-1014)aaC>aaT	p.N338N	RNPEP_ENST00000471105.1_3'UTR|RNPEP_ENST00000367286.3_Silent_p.N299N	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	338					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TGGTCACCAACGCCAACTGGG	0.547													T	201966606	C	T	201966606	2	4	545	1	0	0	0	0	0	0	0	1	13600	535	19	1		1	RNPEP	1	201966606	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08	45337786	201966606	47284015	3	47441											
OXER1	165140	broad.mit.edu	37	chr2	42990225	42990225	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggcccagcaaggcccggctCtggtggaggaagttggggct	7	6	18	10	1	1	0	0	0	1	0	1	2	1	2	2	8	1	4	2	8	2	1	rs143944527	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr2:42990225C>G	ENST00000378661.2	-	1	1176	c.1095G>C	c.(1093-1095)caG>caC	p.Q365H		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	365					regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						AGGCCCGGCTCTGGTGGAGGA	0.652													G	42990225	C	G	42990225	3	3	545	1	0	0	0	0	1	0	0	0	11407	912	32	4	180	4	OXER1	2	42990225	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42990225	200209148	4	47442											
BRCA2	675	broad.mit.edu	37	chr13	32911765	32911765	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catataacccctcagatgttAttttccaagcaggattttaa	13	14	5	9	0	1	1	1	0	0	1	2	2	2	2	3	1	2	2	3	1	5	7	rs80359382		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr13:32911765A>C	ENST00000544455.1	+	11	3500	c.3273A>C	c.(3271-3273)ttA>ttC	p.L1091F	BRCA2_ENST00000380152.3_Missense_Mutation_p.L1091F	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1091					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTCAGATGTTATTTTCCAAGC	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C	32911765	A	C	32911765	3	2	545	1	0	0	0	0	1	0	0	0	1508	446	16	5	3311	5	BRCA2	13	32911765	Missense_Mutation	SNP	A	TCGA-HT-7681-01A-11D-2395-08		32911765	82258113	5	47443											
OR11H6	122748	broad.mit.edu	37	chr14	20692083	20692083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgaaattggacaggcGgctccacacacccatgtaca	12	7	10	12	1	0	1	0	1	0	0	1	2	1	2	2	3	2	3	2	3	2	2			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:20692083G>A	ENST00000315519.2	+	1	293	c.215G>A	c.(214-216)cGg>cAg	p.R72Q		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		TTGGACAGGCGGCTCCACACA	0.478													A	20692083	G	A	20692083	3	1	545	1	0	0	0	0	1	0	0	0	11005	1116	39	1	217	1	OR11H6	14	20692083	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		20692083	86657457	6	47444											
SAMD4A	23034	broad.mit.edu	37	chr14	55236839	55236840	+	Frame_Shift_Ins	INS	-	-	A																															aggcatttacagagacacagINSaaaaaaagattgttgtcatg																										TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:55236839_55236840insA	ENST00000251091.5	+	7	1655_1656	c.1350_1351insA	c.(1351-1353)aaafs	p.K451fs	SAMD4A_ENST00000555192.1_Frame_Shift_Ins_p.K130fs|SAMD4A_ENST00000392067.3_Frame_Shift_Ins_p.K539fs|SAMD4A_ENST00000554335.1_Frame_Shift_Ins_p.K539fs|SAMD4A_ENST00000357634.3_Frame_Shift_Ins_p.K538fs	NM_001161576.2	NP_001155048.2	Q9UPU9	SMAG1_HUMAN	sterile alpha motif domain containing 4A	539					positive regulation of translation	cell junction|cytoplasm|dendrite|synapse|synaptosome	translation repressor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(1)|skin(1)	29						CAGAGACACAGAAAAAAAGATT	0.416													A	55236840	-	A	55236839	7	5	545	1	0	1	1	0	0	0	0	0	13912	933	33	0	1641	0	SAMD4A	14	55236839	Frame_Shift_Ins	INS	-	TCGA-HT-7681-01A-11D-2395-08	34544756	55236839	52112701	7	47445											
INF2	64423	broad.mit.edu	37	chr14	105174321	105174321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agctgaactggcagaagctgCcatccaacgtggcacgtggt	10	7	13	11	2	0	2	0	1	0	1	1	2	1	2	2	3	5	4	2	3	3	0			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr14:105174321C>T	ENST00000392634.4	+	8	1829	c.1717C>T	c.(1717-1719)Cca>Tca	p.P573S	INF2_ENST00000330634.7_Missense_Mutation_p.P573S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	573	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		GCAGAAGCTGCCATCCAACGT	0.657													T	105174321	C	T	105174321	3	4	545	1	0	0	0	0	1	0	0	0	7792	739	26	2	1747	2	INF2	14	105174321	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08	49937482	105174321	2175219	8	47446											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	545	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		90631838	11899554	9	47447											
FBXL19	54620	broad.mit.edu	37	chr16	30939204	30939204	+	Frame_Shift_Del	DEL	C	C	-																															agggccccctgcctgccgggCcccccccggaggacgtgcct																										TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr16:30939204delC	ENST00000338343.4	+	5	934	c.547delC	c.(547-549)cccfs	p.P185fs	FBXL19_ENST00000565690.1_Intron|FBXL19_ENST00000471231.2_5'UTR|FBXL19_ENST00000562319.1_Frame_Shift_Del_p.P185fs|FBXL19_ENST00000380310.2_Frame_Shift_Del_p.P205fs			Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19	205							DNA binding|zinc ion binding			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						GCCTGCCGGGCCCCCCCCGGA	0.711													-	30939204	C	-	30939204	7	5	545	1	0	1	0	1	0	0	0	0	5764	739	26	0	625	0	FBXL19	16	30939204	Frame_Shift_Del	DEL	C	TCGA-HT-7681-01A-11D-2395-08		30939204	59415549	10	47448											
ABCA8	10351	broad.mit.edu	37	chr17	66914237	66914237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtactgaagaggatcacGcggtctgttttgcgttcttt	6	15	13	7	3	3	2	1	1	2	1	3	3	3	3	0	3	2	3	0	3	2	5			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:66914237G>A	ENST00000269080.2	-	14	2015	c.1878C>T	c.(1876-1878)cgC>cgT	p.R626R	ABCA8_ENST00000586539.1_Silent_p.R666R|ABCA8_ENST00000430352.2_Silent_p.R666R	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	626	ABC transporter 1.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					AGAGGATCACGCGGTCTGTTT	0.453													A	66914237	G	A	66914237	2	1	545	1	0	0	0	0	0	0	0	1	38	1074	38	1		1	ABCA8	17	66914237	Silent	SNP	G	TCGA-HT-7681-01A-11D-2395-08		66914237	14280973	11	47449											
CD300A	11314	broad.mit.edu	37	chr17	72469878	72469878	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtccatcagggacagtcctGcaaacctcagcttcacagtg	10	9	9	13	0	3	0	3	0	0	0	5	1	5	1	3	1	3	2	3	1	1	1	rs148191018	byFrequency	TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr17:72469878G>A	ENST00000360141.3	+	2	532	c.244G>A	c.(244-246)Gca>Aca	p.A82T	CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Intron|CD300A_ENST00000577511.1_5'UTR|CD300A_ENST00000392625.3_Intron	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	82	Ig-like V-type.				cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GGACAGTCCTGCAAACCTCAG	0.532													A	72469878	G	A	72469878	3	1	545	1	0	0	0	0	1	0	0	0	3026	1319	46	2	250	2	CD300A	17	72469878	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08	5555641	72469878	8725332	12	47450											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	545	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HT-7681-01A-11D-2395-08		42791757	16337226	13	47451											
PCSK2	5126	broad.mit.edu	37	chr20	17462592	17462592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggcactcagagtgccccGtacatcgaccaggtggtgcg	8	7	13	13	3	1	1	1	0	0	1	2	2	1	1	3	3	3	2	3	3	1	1			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr20:17462592G>A	ENST00000262545.2	+	12	2109	c.1794G>A	c.(1792-1794)ccG>ccA	p.P598P	PCSK2_ENST00000377899.1_Silent_p.P579P|PCSK2_ENST00000536609.1_Silent_p.P563P|PCSK2_ENST00000459871.1_3'UTR	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	598					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	AGAGTGCCCCGTACATCGACC	0.612													A	17462592	G	A	17462592	2	1	545	1	0	0	0	0	0	0	0	1	11677	1132	40	1		1	PCSK2	20	17462592	Silent	SNP	G	TCGA-HT-7681-01A-11D-2395-08		17462592	45562928	14	47452											
IL2RB	3560	broad.mit.edu	37	chr22	37524372	37524372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggactcctggggtgggagGccccaggggctgggggtccc	3	6	21	11	0	0	0	0	0	0	0	2	2	2	2	4	9	0	1	4	9	0	0			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chr22:37524372G>A	ENST00000216223.5	-	10	1618	c.1420C>T	c.(1420-1422)Cct>Tct	p.P474S		NM_000878.3	NP_000869.1	P14784	IL2RB_HUMAN	interleukin 2 receptor, beta	474					interspecies interaction between organisms|positive regulation of survival gene product expression|protein complex assembly	external side of plasma membrane|integral to plasma membrane	interleukin-2 receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(5)	23					Aldesleukin(DB00041)|Basiliximab(DB00074)|Daclizumab(DB00111)|Denileukin diftitox(DB00004)	GGGGTGGGAGGCCCCAGGGGC	0.677													A	37524372	G	A	37524372	3	1	545	1	0	0	0	0	1	0	0	0	7745	1203	42	2	239	2	IL2RB	22	37524372	Missense_Mutation	SNP	G	TCGA-HT-7681-01A-11D-2395-08		37524372	13780194	15	47453											
SYAP1	94056	broad.mit.edu	37	chrX	16774794	16774794	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacttcttagaggcagtaCggcccaaaacgccacccgtt	10	8	8	15	3	2	1	1	0	1	1	2	1	2	1	3	2	2	3	3	2	4	4			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:16774794C>A	ENST00000380155.3	+	7	826	c.733C>A	c.(733-735)Cgg>Agg	p.R245R		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	245										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					AGAGGCAGTACGGCCCAAAAC	0.343													A	16774794	C	A	16774794	2	1	545	1	0	0	0	0	0	0	0	1	15522	527	19	4		4	SYAP1	23	16774794	Silent	SNP	C	TCGA-HT-7681-01A-11D-2395-08		16774794	138495766	16	47454											
MORF4L2	9643	broad.mit.edu	37	chrX	102931856	102931856	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctgaggaggcccctctcaTtttacttctctgcatgttgc	5	15	8	13	0	2	1	1	1	2	0	5	2	3	2	3	2	3	2	3	2	1	4			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:102931856T>C	ENST00000423833.2	-	3	1325	c.100A>G	c.(100-102)Atg>Gtg	p.M34V	MORF4L2_ENST00000441076.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000360458.1_Missense_Mutation_p.M34V|MORF4L2_ENST00000492116.1_5'UTR|MORF4L2_ENST00000451301.1_Missense_Mutation_p.M34V|MORF4L2_ENST00000433176.2_Missense_Mutation_p.M34V|MORF4L2_ENST00000422154.2_Missense_Mutation_p.M34V			Q15014	MO4L2_HUMAN	mortality factor 4 like 2	34					chromatin modification|DNA repair|regulation of cell growth|transcription, DNA-dependent	nucleolus	protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)	13						GCCCCTCTCATTTTACTTCTC	0.488													C	102931856	T	C	102931856	3	2	545	1	0	0	0	0	1	0	0	0	9783	1493	52	3	770	3	MORF4L2	23	102931856	Missense_Mutation	SNP	T	TCGA-HT-7681-01A-11D-2395-08	86157062	102931856	52338704	17	47455											
AFF2	2334	broad.mit.edu	37	chrX	148049222	148049222	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagcacaaagctgatgcactGgtaagtttcctttttctcat	11	14	7	9	0	1	1	1	1	1	0	3	1	2	1	1	1	3	5	1	1	3	4			TCGA-HT-7681-01A-11D-2395-08	TCGA-HT-7681-10C-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	378982db-a5b2-405d-be34-30b870c8d215	16689ce9-1a6c-4702-91eb-68955024ac3e	g.chrX:148049222G>T	ENST00000370460.2	+	15	3746	c.3267G>T	c.(3265-3267)ctG>ctT	p.L1089L	AFF2_ENST00000370457.5_Splice_Site_p.L1054L|AFF2_ENST00000342251.3_Splice_Site_p.L1056L|AFF2_ENST00000286437.5_Splice_Site_p.L730L	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1089					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CTGATGCACTGGTAAGTTTCC	0.348													T	148049222	G	T	148049222	5	4	545	1	0	0	0	0	0	0	1	0	357	1362	47	4	3380	4	AFF2	23	148049222	Splice_Site	SNP	G	TCGA-HT-7681-01A-11D-2395-08	45117366	148049222	7221338	18	47456											
ALG6	29929	broad.mit.edu	37	chr1	63876858	63876858	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgctttgtggggtgttcTtggaatatcttgtgactgcg	4	18	13	6	1	2	1	0	1	2	0	2	2	2	2	0	3	2	2	0	3	2	6			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr1:63876858T>C	ENST00000371108.4	+	8	841	c.536T>C	c.(535-537)cTt>cCt	p.L179P	ALG6_ENST00000263440.4_Missense_Mutation_p.L181P	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	179					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-glucose-glycolipid alpha-glucosyltransferase activity			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TGGGGTGTTCTTGGAATATCT	0.363													C	63876858	T	C	63876858	3	2	546	1	0	0	0	0	1	0	0	0	522	1609	56	3	562	3	ALG6	1	63876858	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		63876858	185373763	1	47457											
C2orf16	84226	broad.mit.edu	37	chr2	27799838	27799838	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagtttgcaaaatatgcAgagatgatcccacagccaaa	16	8	7	10	0	1	2	1	1	0	1	2	3	2	2	2	0	3	3	2	0	4	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:27799838A>T	ENST00000408964.2	+	1	450	c.399A>T	c.(397-399)gcA>gcT	p.A133A		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	133										breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					CAAAATATGCAGAGATGATCC	0.383													T	27799838	A	T	27799838	2	4	546	1	0	0	0	0	0	0	0	1	2178	175	7	5		5	C2orf16	2	27799838	Silent	SNP	A	TCGA-HT-7684-01A-11D-2253-08		27799838	215399535	2	47458											
LRP2	4036	broad.mit.edu	37	chr2	170038748	170038748	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgttggcatccacacagtgCtgggccagcatgcggcggtg	6	9	15	11	2	0	0	0	0	0	0	1	0	1	0	2	4	3	4	2	4	0	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:170038748C>T	ENST00000263816.3	-	51	10212	c.9927G>A	c.(9925-9927)caG>caA	p.Q3309Q	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3309					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCACACAGTGCTGGGCCAGCA	0.532													T	170038748	C	T	170038748	2	4	546	1	0	0	0	0	0	0	0	1	9026	796	28	2		2	LRP2	2	170038748	Silent	SNP	C	TCGA-HT-7684-01A-11D-2253-08	142238910	170038748	73160625	3	47459											
ANKAR	150709	broad.mit.edu	37	chr2	190585366	190585366	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggaatcccaagcctgataAatctattgaacttaaacata	17	11	5	8	0	1	2	0	2	1	0	2	3	2	3	2	1	3	0	2	1	9	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr2:190585366A>C	ENST00000520309.1	+	12	2576	c.2488A>C	c.(2488-2490)Aat>Cat	p.N830H	ANKAR_ENST00000438402.2_Missense_Mutation_p.N830H|ANKAR_ENST00000281412.6_Missense_Mutation_p.N594H|ANKAR_ENST00000431575.2_Missense_Mutation_p.N759H|ANKAR_ENST00000313581.4_Missense_Mutation_p.N830H	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	830						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			AAGCCTGATAAATCTATTGAA	0.284													C	190585366	A	C	190585366	3	2	546	1	0	0	0	0	1	0	0	0	623	14	1	5	2530	5	ANKAR	2	190585366	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	20546618	190585366	52614007	4	47460											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	546	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	18527746	209113112	34086261	5	47461											
SETD2	29072	broad.mit.edu	37	chr3	47103767	47103767	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctgggtctctctctcttGacctattaggagtcttcggg	4	16	11	10	1	5	1	0	1	5	0	8	2	5	2	1	3	0	0	1	3	2	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:47103767G>C	ENST00000409792.3	-	14	6221	c.6179C>G	c.(6178-6180)tCa>tGa	p.S2060*	SETD2_ENST00000492397.1_5'UTR	NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	2060					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TCTCTCTCTTGACCTATTAGG	0.463			"N, F, S, Mis"		clear cell renal carcinoma								C	47103767	G	C	47103767	4	2	546	1	0	0	0	0	0	1	0	0	14224	1294	45	4	1547	4	SETD2	3	47103767	Nonsense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		47103767	150918663	6	47462											
CCDC54	84692	broad.mit.edu	37	chr3	107097101	107097101	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaaaactctgaagaaaCgtaaccatcaaaatgcatca	21	7	5	8	1	3	3	2	2	1	1	3	3	3	3	1	0	4	2	1	0	8	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr3:107097101C>T	ENST00000261058.1	+	1	914	c.667C>T	c.(667-669)Cgt>Tgt	p.R223C		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	223										NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						TCTGAAGAAACGTAACCATCA	0.378													T	107097101	C	T	107097101	3	4	546	1	0	0	0	0	1	0	0	0	2852	536	19	1	669	1	CCDC54	3	107097101	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	59993334	107097101	90925329	7	47463											
TRPC7	57113	broad.mit.edu	37	chr5	135561020	135561020	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagattttcagaattcctcAtgccagcctggtagcgagtc	9	12	9	11	1	3	2	3	0	0	2	5	3	4	2	3	1	3	1	3	1	2	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr5:135561020A>G	ENST00000513104.1	-	10	2567	c.2285T>C	c.(2284-2286)aTg>aCg	p.M762T	TRPC7_ENST00000426057.2_Missense_Mutation_p.M646T|TRPC7_ENST00000355180.3_Missense_Mutation_p.M701T	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	762					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AGAATTCCTCATGCCAGCCTG	0.453													G	135561020	A	G	135561020	3	3	546	1	0	0	0	0	1	0	0	0	16685	217	8	3	315	3	TRPC7	5	135561020	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08		135561020	45354240	8	47464											
LY6G6D	58530	broad.mit.edu	37	chr6	31685399	31685399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatccagcctgcgtcgcaGcccatcattgcaatcaagtg	11	8	8	14	2	2	0	2	0	0	0	4	0	3	0	3	0	5	2	3	0	3	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:31685399G>A	ENST00000503322.1	+	6	970	c.967G>A	c.(967-969)Gcc>Acc	p.A323T	LY6G6D_ENST00000375825.3_Missense_Mutation_p.A74T|LY6G6F_ENST00000556581.1_Missense_Mutation_p.A323T																							CTGCGTCGCAGCCCATCATTG	0.577													A	31685399	G	A	31685399	3	1	546	1	0	0	0	0	1	0	0	0	9166	971	34	2	230	2	LY6G6D	6	31685399	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		31685399	139429668	9	47465											
DST	667	broad.mit.edu	37	chr6	56483529	56483529	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgaaatatcattttcaGtgatgactttggactccatt	10	16	7	8	0	2	3	2	3	0	0	3	4	3	4	2	1	1	0	2	1	2	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:56483529G>A	ENST00000370765.6	-	23	5410	c.5303C>T	c.(5302-5304)aCt>aTt	p.T1768I	DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000370788.2_Intron|DST_ENST00000312431.6_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	1162					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			ATCATTTTCAGTGATGACTTT	0.358													A	56483529	G	A	56483529	3	1	546	1	0	0	0	0	1	0	0	0	4822	1029	36	2	15100	2	DST	6	56483529	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	24798130	56483529	114631538	10	47466											
EEF1A1	1915	broad.mit.edu	37	chr6	74229668	74229668	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccaccgcatttatagaTcagatggccagtagtggtgg	10	10	13	8	1	1	2	1	0	0	2	1	3	1	2	3	3	1	2	3	3	3	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr6:74229668T>C	ENST00000316292.9	-	1	1073	c.82A>G	c.(82-84)Atc>Gtc	p.I28V	EEF1A1_ENST00000309268.6_Missense_Mutation_p.I28V|EEF1A1_ENST00000331523.2_Missense_Mutation_p.I28V	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	28						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						CATTTATAGATCAGATGGCCA	0.413													C	74229668	T	C	74229668	3	2	546	1	0	0	0	0	1	0	0	0	4962	1435	50	3	1334	3	EEF1A1	6	74229668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	17746139	74229668	96885399	11	47467											
CD36	948	broad.mit.edu	37	chr7	80286000	80286000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acattcaagttaagcaaagaGgtccttatacgtacaggtga	15	10	9	7	1	1	2	1	1	0	1	2	2	2	2	1	2	3	3	1	2	6	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:80286000G>A	ENST00000435819.1	+	7	949	c.265G>A	c.(265-267)Ggt>Agt	p.G89S	CD36_ENST00000544133.1_Missense_Mutation_p.G89S|CD36_ENST00000534394.1_Missense_Mutation_p.G13S|CD36_ENST00000447544.2_Missense_Mutation_p.G89S|CD36_ENST00000309881.7_Missense_Mutation_p.G89S|CD36_ENST00000433696.2_Missense_Mutation_p.G89S|CD36_ENST00000432207.1_Missense_Mutation_p.G89S|CD36_ENST00000394788.3_Missense_Mutation_p.G89S|CD36_ENST00000538969.1_Missense_Mutation_p.G89S			P16671	CD36_HUMAN	CD36 molecule (thrombospondin receptor)	89					cell adhesion|cGMP-mediated signaling|cholesterol transport|lipid metabolic process|lipid storage|lipoprotein transport|low-density lipoprotein particle clearance|nitric oxide mediated signal transduction|plasma membrane long-chain fatty acid transport|platelet activation|platelet degranulation|positive regulation of cell-matrix adhesion|positive regulation of macrophage derived foam cell differentiation	integral to plasma membrane|membrane fraction|platelet alpha granule membrane	lipid binding|low-density lipoprotein receptor activity|thrombospondin receptor activity|transforming growth factor beta binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|large_intestine(1)|lung(6)|ovary(1)	21						TAAGCAAAGAGGTCCTTATAC	0.398													A	80286000	G	A	80286000	3	1	546	1	0	0	0	0	1	0	0	0	3037	1000	35	2	271	2	CD36	7	80286000	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		80286000	78852663	12	47468											
SSPO	23145	broad.mit.edu	37	chr7	149482723	149482723	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcgagaggccagtggcCtattcacagtctctgcccag	7	9	13	12	1	2	1	1	0	1	1	3	2	2	1	3	3	2	0	3	3	1	2			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr7:149482723C>G	ENST00000378016.2	+	0	3139							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCCAGTGGCCTATTCACAGT	0.627													G	149482723	C	G	149482723	1	3	546	0	1	0	0	0	0	0	0	0	15285	680	24	4		4	SSPO	7	149482723	RNA	SNP	C	TCGA-HT-7684-01A-11D-2253-08	69196723	149482723	9655940	13	47469											
KIF13B	23303	broad.mit.edu	37	chr8	29039519	29039519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgactttcaacgtctgacGgcttctgttcatgaaaaaca	11	13	7	10	2	5	3	2	3	3	0	5	3	5	3	0	1	2	2	0	1	3	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr8:29039519G>A	ENST00000524189.1	-	7	540	c.502C>T	c.(502-504)Cgt>Tgt	p.R168C	KIF13B_ENST00000521515.1_Missense_Mutation_p.R168C	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	168	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		AACGTCTGACGGCTTCTGTTC	0.373													A	29039519	G	A	29039519	3	1	546	1	0	0	0	0	1	0	0	0	8333	1116	39	1	5114	1	KIF13B	8	29039519	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29039519	117324503	14	47470											
PCSK5	5125	broad.mit.edu	37	chr9	78790136	78790136	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatggaatggaatggaaTgaaatggaatggaatgaaat	19	8	13	1	0	0	3	0	2	0	1	0	8	0	8	0	5	0	0	0	5	8	0	rs62556589		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:78790136T>C	ENST00000376767.3	+	14	2503	c.1991T>C	c.(1990-1992)aTg>aCg	p.M664T	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						tggaatggaatgaaatggaat	0.423													C	78790136	T	C	78790136	3	2	546	1	0	0	0	0	1	0	0	0	11679	1479	51	3		3	PCSK5	9	78790136	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		78790136	62423295	15	47471											
NOL8	55035	broad.mit.edu	37	chr9	95077012	95077012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccattcgccttctttgcaTgttggcatggagtcacttca	6	14	10	11	1	3	0	2	0	1	0	4	1	3	1	2	3	1	3	2	3	0	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:95077012T>C	ENST00000545558.1	-	7	2387	c.1895A>G	c.(1894-1896)cAt>cGt	p.H632R	NOL8_ENST00000358855.4_Missense_Mutation_p.H564R|NOL8_ENST00000442668.2_Missense_Mutation_p.H632R|NOL8_ENST00000535387.1_Missense_Mutation_p.H632R|NOL8_ENST00000542053.1_Missense_Mutation_p.H564R			Q76FK4	NOL8_HUMAN	nucleolar protein 8	632					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTCTTTGCATGTTGGCATGG	0.453													C	95077012	T	C	95077012	3	2	546	1	0	0	0	0	1	0	0	0	10603	1464	51	3	1652	3	NOL8	9	95077012	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	16286876	95077012	46136419	16	47472											
TBC1D2	55357	broad.mit.edu	37	chr9	100991314	100991314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgggcagttcggttccGtgtgattccttcagaaaaga	8	12	11	10	2	1	3	1	1	0	2	5	3	4	3	3	2	0	3	3	2	2	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:100991314G>A	ENST00000375066.5	-	5	989	c.898C>T	c.(898-900)Cgg>Tgg	p.R300W	TBC1D2_ENST00000493589.2_5'UTR|TBC1D2_ENST00000375064.1_Missense_Mutation_p.R300W|TBC1D2_ENST00000342112.5_Missense_Mutation_p.R82W	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	300	Interaction with RAC1.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		GTTCGGTTCCGTGTGATTCCT	0.522													A	100991314	G	A	100991314	3	1	546	1	0	0	0	0	1	0	0	0	15705	1144	40	1	1891	1	TBC1D2	9	100991314	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	5914302	100991314	40222117	17	47473											
OR13D1	286365	broad.mit.edu	37	chr9	107456818	107456818	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catggagacaagaaattactCtgccatgactgaattctttc	13	12	7	9	0	2	4	0	2	2	2	3	5	2	4	1	1	2	0	1	1	4	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:107456818C>G	ENST00000318763.5	+	1	159	c.116C>G	c.(115-117)tCt>tGt	p.S39C		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						AGAAATTACTCTGCCATGACT	0.423													G	107456818	C	G	107456818	3	3	546	1	0	0	0	0	1	0	0	0	11016	913	32	4	118	4	OR13D1	9	107456818	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	6465504	107456818	33756613	18	47474											
MUSK	4593	broad.mit.edu	37	chr9	113562782	113562782	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctttgcattgccaggcaGgtggcagctggcatggctta	7	10	14	10	0	0	0	0	0	0	0	0	0	0	0	1	5	4	7	1	5	1	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:113562782G>C	ENST00000416899.2	+	13	2226	c.2100G>C	c.(2098-2100)caG>caC	p.Q700H	MUSK_ENST00000374448.4_Missense_Mutation_p.Q708H|MUSK_ENST00000189978.5_Missense_Mutation_p.Q708H			O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	708	Protein kinase.				transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						TTGCCAGGCAGGTGGCAGCTG	0.567													C	113562782	G	C	113562782	3	2	546	1	0	0	0	0	1	0	0	0	10065	991	35	4	2214	4	MUSK	9	113562782	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	6105964	113562782	27650649	19	47475											
PTGS1	5742	broad.mit.edu	37	chr9	125154668	125154668	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtactggaagccgagcacaTttggcggcgaggtgggcttt	8	9	16	8	3	0	0	0	0	0	0	0	3	0	1	1	5	3	3	1	5	2	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr9:125154668T>G	ENST00000362012.2	+	11	1650	c.1645T>G	c.(1645-1647)Ttt>Gtt	p.F549V	PTGS1_ENST00000223423.4_Missense_Mutation_p.F512V|PTGS1_ENST00000373698.5_Missense_Mutation_p.F440V|PTGS1_ENST00000540753.1_Missense_Mutation_p.F487V	NM_000962.3|NM_001271164.1|NM_001271367.1|NM_080591.2	NP_000953.2|NP_001258093.1|NP_001258296.1|NP_542158.1	P23219	PGH1_HUMAN	prostaglandin-endoperoxide synthase 1 (prostaglandin G/H synthase and cyclooxygenase)	549					cyclooxygenase pathway|hormone biosynthetic process|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum membrane|Golgi apparatus|microsome|plasma membrane	heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			large_intestine(3)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	8					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Dipyrone(DB04817)|Etodolac(DB00749)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Mesalazine(DB00244)|Minoxidil(DB00350)|Nabumetone(DB00461)|Naproxen(DB00788)|Phenacetin(DB03783)|Piroxicam(DB00554)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Tolmetin(DB00500)	GCCGAGCACATTTGGCGGCGA	0.537													G	125154668	T	G	125154668	3	3	546	1	0	0	0	0	1	0	0	0	12841	1493	52	5	1687	5	PTGS1	9	125154668	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	11591886	125154668	16058763	20	47476											
SERPING1	710	broad.mit.edu	37	chr11	57367766	57367766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctgaagctctaccacGccttctcagcaatgaagaag	11	9	7	14	1	3	3	1	2	3	1	5	3	3	3	3	0	3	2	3	0	5	2	rs139035354	by1000genomes	TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:57367766G>A	ENST00000403558.1	+	2	934	c.568G>A	c.(568-570)Gcc>Acc	p.A190T	SERPING1_ENST00000378323.4_Missense_Mutation_p.A161T|SERPING1_ENST00000378324.2_Missense_Mutation_p.A104T|SERPING1_ENST00000278407.4_Missense_Mutation_p.A156T|SERPING1_ENST00000340687.6_Missense_Mutation_p.A156T	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	156					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity	p.A156T(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTCTACCACGCCTTCTCAGC	0.542													A	57367766	G	A	57367766	3	1	546	1	0	0	0	0	1	0	0	0	14209	1087	38	1	472	1	SERPING1	11	57367766	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		57367766	77638750	21	47477											
MS4A14	84689	broad.mit.edu	37	chr11	60183353	60183353	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgtcactccaagttttTccatcccattctgcactaaa	9	13	5	14	1	2	0	1	0	1	0	5	0	5	0	3	0	2	3	3	0	3	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:60183353T>C	ENST00000300187.6	+	5	1189	c.912T>C	c.(910-912)ttT>ttC	p.F304F	MS4A14_ENST00000395005.2_Silent_p.F287F|MS4A14_ENST00000395001.1_3'UTR|MS4A14_ENST00000531783.1_Silent_p.F337F|MS4A14_ENST00000531787.1_Silent_p.F192F	NM_032597.4	NP_115986.3	Q96JA4	M4A14_HUMAN	membrane-spanning 4-domains, subfamily A, member 14	304						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						TCCAAGTTTTTCCATCCCATT	0.423													C	60183353	T	C	60183353	2	2	546	1	0	0	0	0	0	0	0	1	9934	1780	62	3		3	MS4A14	11	60183353	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	2815587	60183353	74823163	22	47478											
CHORDC1	26973	broad.mit.edu	37	chr11	89947220	89947220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttctactggcttaggggCttgaatgatgtgttcctgaa	7	15	12	7	0	1	3	0	3	1	0	2	3	2	3	1	3	2	4	1	3	4	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr11:89947220C>T	ENST00000320585.6	-	4	704	c.295G>A	c.(295-297)Gcc>Acc	p.A99T	CHORDC1_ENST00000457199.2_Missense_Mutation_p.A80T|CHORDC1_ENST00000530765.1_Missense_Mutation_p.A99T	NM_012124.2	NP_036256.2	Q9UHD1	CHRD1_HUMAN	cysteine and histidine-rich domain (CHORD) containing 1	99	Interaction with HSP90AA1 and HSP90AB1 (By similarity).				chaperone-mediated protein folding|regulation of response to stress|response to stress		Hsp90 protein binding|identical protein binding			endometrium(2)|large_intestine(2)|liver(1)|lung(6)	11		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.00915)				GGCTTAGGGGCTTGAATGATG	0.393													T	89947220	C	T	89947220	3	4	546	1	0	0	0	0	1	0	0	0	3395	797	28	2	735	2	CHORDC1	11	89947220	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	29763867	89947220	45059296	23	47479											
TMTC1	83857	broad.mit.edu	37	chr12	29659825	29659825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtaatcgtttttctaggCgatccaatttggcaagattt	9	17	8	7	2	1	1	0	0	1	1	3	2	2	1	1	2	0	3	1	2	4	7	rs35279918		TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:29659825C>T	ENST00000256062.5	-	18	2752	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000552618.1_Missense_Mutation_p.R892H|TMTC1_ENST00000551659.1_Missense_Mutation_p.R930H|TMTC1_ENST00000539277.1_Missense_Mutation_p.R868H	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	868						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					TTTTTCTAGGCGATCCAATTT	0.453													T	29659825	C	T	29659825	3	4	546	1	0	0	0	0	1	0	0	0	16360	768	27	1	49	1	TMTC1	12	29659825	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		29659825	104192070	24	47480											
EP400	57634	broad.mit.edu	37	chr12	132547141	132547141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcagcagcagcaacagacgac	16	0	11	14	1	0	1	0	0	0	1	0	2	0	1	0	0	11	9	0	0	2	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr12:132547141G>A	ENST00000333577.4	+	48	8446	c.8337G>A	c.(8335-8337)caG>caA	p.Q2779Q	EP400_ENST00000332482.4_Silent_p.Q2706Q|EP400_ENST00000389561.2_Silent_p.Q2743Q|EP400_ENST00000330386.6_Silent_p.Q2662Q|EP400_ENST00000389562.2_Silent_p.Q2742Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2779	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.Q2742Q(2)		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)		agcagcaacagcagcagcagc	0.597													A	132547141	G	A	132547141	2	1	546	1	0	0	0	0	0	0	0	1	5190	962	34	2		2	EP400	12	132547141	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	102887316	132547141	1304754	25	47481											
DCLK1	9201	broad.mit.edu	37	chr13	36686247	36686247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtgaagacactgccCgagaagccgaggtggtcttg	9	7	15	10	2	1	3	0	1	1	2	1	5	1	3	3	3	2	0	3	3	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:36686247C>T	ENST00000255448.4	-	3	693	c.482G>A	c.(481-483)cGg>cAg	p.R161Q	DCLK1_ENST00000379892.4_Missense_Mutation_p.R161Q|DCLK1_ENST00000360631.3_Missense_Mutation_p.R161Q	NM_004734.4	NP_004725.1	O15075	DCLK1_HUMAN	doublecortin-like kinase 1	161					cell differentiation|central nervous system development|endosome transport|intracellular signal transduction|response to virus	integral to plasma membrane	ATP binding|protein serine/threonine kinase activity|receptor signaling protein activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		AGACACTGCCCGAGAAGCCGA	0.522													T	36686247	C	T	36686247	3	4	546	1	0	0	0	0	1	0	0	0	4325	652	23	1	1771	1	DCLK1	13	36686247	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		36686247	78483631	26	47482											
DIS3	22894	broad.mit.edu	37	chr13	73346337	73346337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctcgacaatgtagagcaTcgtctatatcagtacatcct	11	13	7	10	2	3	1	1	0	2	1	6	2	4	1	1	0	2	4	1	0	5	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:73346337T>C	ENST00000377767.4	-	10	1563	c.1463A>G	c.(1462-1464)gAt>gGt	p.D488G	DIS3_ENST00000545453.1_Missense_Mutation_p.D326G|DIS3_ENST00000377780.4_Missense_Mutation_p.D458G	NM_014953.3	NP_055768.3	Q9Y2L1	RRP44_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)	488					CUT catabolic process|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|rRNA catabolic process|rRNA processing	cytosol|exosome (RNase complex)|nucleolus|nucleoplasm	3'-5'-exoribonuclease activity|endonuclease activity|guanyl-nucleotide exchange factor activity|protein binding|RNA binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(7)|kidney(5)|large_intestine(10)|lung(6)|prostate(2)|skin(1)	35		Breast(118;0.0074)|Acute lymphoblastic leukemia(28;0.0195)		GBM - Glioblastoma multiforme(99;0.000181)		ATGTAGAGCATCGTCTATATC	0.363										Multiple Myeloma(4;0.011)			C	73346337	T	C	73346337	3	2	546	1	0	0	0	0	1	0	0	0	4574	1435	50	3	1461	3	DIS3	13	73346337	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08	36660090	73346337	41823541	27	47483											
MYCBP2	23077	broad.mit.edu	37	chr13	77807397	77807397	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggaccagcaaatacaaggggGcctgaggagaaacattttgt	14	7	13	7	0	0	2	0	1	0	1	0	4	0	3	2	4	3	1	2	4	4	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr13:77807397G>C	ENST00000407578.2	-	18	2897	c.2631C>G	c.(2629-2631)ggC>ggG	p.G877G	MYCBP2_ENST00000357337.6_Splice_Site_p.G839G|MYCBP2_ENST00000544440.2_Splice_Site_p.G839G|MYCBP2_ENST00000360084.5_5'UTR	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	839					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		ATACAAGGGGGCCTGAGGAGA	0.363													C	77807397	G	C	77807397	5	2	546	1	0	0	0	0	0	0	1	0	10094	1217	42	4	11669	4	MYCBP2	13	77807397	Splice_Site	SNP	G	TCGA-HT-7684-01A-11D-2253-08	4461060	77807397	37362481	28	47484											
FOXG1	2290	broad.mit.edu	37	chr14	29237034	29237034	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaagtacgagaagccgccGttcagctacaacgcgctcat	11	6	11	13	5	2	1	2	0	0	1	2	2	2	1	2	1	5	5	2	1	5	3			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:29237034G>A	ENST00000382535.3	+	2	918	c.549G>A	c.(547-549)ccG>ccA	p.P183P	FOXG1_ENST00000313071.4_Silent_p.P183P			P55316	FOXG1_HUMAN	forkhead box G1	183				P -> PP (in Ref. 1; CAA52241).	axon midline choice point recognition|central nervous system neuron development|dorsal/ventral pattern formation|embryo development ending in birth or egg hatching|hindbrain development|inner ear morphogenesis|negative regulation of neuron differentiation|negative regulation of transcription, DNA-dependent|nonmotile primary cilium assembly|nose development|positive regulation of cell cycle|positive regulation of neuroblast proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of mitotic cell cycle|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(23)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(2)	43			LUAD - Lung adenocarcinoma(48;0.011)|Lung(238;0.0575)	GBM - Glioblastoma multiforme(265;0.00413)		AGAAGCCGCCGTTCAGCTACA	0.637													A	29237034	G	A	29237034	2	1	546	1	0	0	0	0	0	0	0	1	6058	1132	40	1		1	FOXG1	14	29237034	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		29237034	78112506	29	47485											
KLHL28	54813	broad.mit.edu	37	chr14	45415078	45415078	+	Frame_Shift_Del	DEL	A	A	-																															aagccctgcagaagttgttcAgaatgcaagtgggttaagtt																										TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:45415078delA	ENST00000396128.4	-	2	173	c.54delT	c.(52-54)tctfs	p.S18fs	KLHL28_ENST00000355081.2_Frame_Shift_Del_p.S32fs	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	18										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						GAAGTTGTTCAGAATGCAAGT	0.403													-	45415078	A	-	45415078	7	5	546	1	0	1	0	1	0	0	0	0	8440	175	7	0	1677	0	KLHL28	14	45415078	Frame_Shift_Del	DEL	A	TCGA-HT-7684-01A-11D-2253-08	16178044	45415078	61934462	30	47486											
SYNE2	23224	broad.mit.edu	37	chr14	64676802	64676802	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcaaccagcgctgggacaAccttcagaggcgggtcacag	10	4	15	12	2	2	1	2	0	0	1	2	2	2	2	2	4	3	2	2	4	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:64676802A>G	ENST00000357395.3	+	104	18982	c.7838A>G	c.(7837-7839)aAc>aGc	p.N2613S	SYNE2_ENST00000344113.4_Missense_Mutation_p.N6228S|SYNE2_ENST00000555022.1_Missense_Mutation_p.N106S|ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000554805.1_Missense_Mutation_p.N11S|SYNE2_ENST00000555002.1_Missense_Mutation_p.N2862S|SYNE2_ENST00000358025.3_Missense_Mutation_p.N6228S|SYNE2_ENST00000394768.2_Missense_Mutation_p.N2613S|SYNE2_ENST00000554584.1_Missense_Mutation_p.N6187S			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	6228					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		CGCTGGGACAACCTTCAGAGG	0.622													G	64676802	A	G	64676802	3	3	546	1	0	0	0	0	1	0	0	0	15543	43	2	3	19089	3	SYNE2	14	64676802	Missense_Mutation	SNP	A	TCGA-HT-7684-01A-11D-2253-08	19261724	64676802	42672738	31	47487											
ISM2	145501	broad.mit.edu	37	chr14	77942239	77942239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaacgcaggcagaagcgcGccgtgggctggtagatgtcc	8	6	17	10	4	0	2	0	0	0	2	1	3	1	3	2	4	2	4	2	4	3	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr14:77942239G>A	ENST00000393684.3	-	8	1542	c.1151C>T	c.(1150-1152)gCg>gTg	p.A384V	ISM2_ENST00000342219.4_Missense_Mutation_p.A472V|ISM2_ENST00000429906.1_Missense_Mutation_p.A391V|ISM2_ENST00000493585.1_3'UTR|ISM2_ENST00000412904.1_Missense_Mutation_p.A391V			Q6H9L7	ISM2_HUMAN	isthmin 2	472						extracellular region				endometrium(3)|large_intestine(4)|lung(11)|prostate(1)|skin(1)|urinary_tract(1)	21						GCAGAAGCGCGCCGTGGGCTG	0.677													A	77942239	G	A	77942239	3	1	546	1	0	0	0	0	1	0	0	0	7919	1087	38	1	304	1	ISM2	14	77942239	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13265437	77942239	29407301	32	47488											
AKAP13	11214	broad.mit.edu	37	chr15	86287025	86287025	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaaagaaggagaaaaaaaaGaagaacaaaaccagccgctc	24	1	9	7	1	0	4	0	0	0	4	1	6	0	4	2	1	3	1	2	1	11	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:86287025G>A	ENST00000394518.2	+	36	8456	c.8361G>A	c.(8359-8361)aaG>aaA	p.K2787K	AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000394510.2_Silent_p.K1032K|AKAP13_ENST00000361243.2_Silent_p.K2791K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2787	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						AGAAAAAAAAGAAGAACAAAA	0.532													A	86287025	G	A	86287025	2	1	546	1	0	0	0	0	0	0	0	1	449	933	33	2		2	AKAP13	15	86287025	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08		86287025	16244367	33	47489											
IQGAP1	8826	broad.mit.edu	37	chr15	91034589	91034589	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaacatcagagagccatgCagagacgtgctatccgtgat	13	7	11	10	2	1	4	1	1	0	3	2	6	2	4	2	0	4	2	2	0	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr15:91034589C>T	ENST00000268182.5	+	34	4397	c.4273C>T	c.(4273-4275)Cag>Tag	p.Q1425*	IQGAP1_ENST00000560738.1_Nonsense_Mutation_p.Q853*	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1425	C2.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GAGAGCCATGCAGAGACGTGC	0.398													T	91034589	C	T	91034589	4	4	546	1	0	0	0	0	0	1	0	0	7872	711	25	2	4407	2	IQGAP1	15	91034589	Nonsense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	4747564	91034589	11496803	34	47490											
EFTUD2	9343	broad.mit.edu	37	chr17	42931994	42931994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccaaaagcccagatggaaCgggcagccagcagatcccaa	14	2	12	13	1	0	2	0	0	0	2	1	3	1	3	4	3	4	2	4	3	4	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:42931994C>T	ENST00000426333.2	-	22	2486	c.2189G>A	c.(2188-2190)cGt>cAt	p.R730H	EFTUD2_ENST00000592576.1_Missense_Mutation_p.R720H|EFTUD2_ENST00000591382.1_Missense_Mutation_p.R730H|EFTUD2_ENST00000402521.3_Missense_Mutation_p.R695H	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	730						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				CCAGATGGAACGGGCAGCCAG	0.567													T	42931994	C	T	42931994	3	4	546	1	0	0	0	0	1	0	0	0	5000	536	19	1	757	1	EFTUD2	17	42931994	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08		42931994	38263216	35	47491											
USP32	84669	broad.mit.edu	37	chr17	58378974	58378975	+	Frame_Shift_Del	DEL	TC	TC	-																															acttacattttgctttctctTcatctttgcctcttgtaagg																										TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:58378974_58378975delTC	ENST00000300896.4	-	3	471_472	c.277_278delGA	c.(277-279)gaafs	p.E94fs	USP32_ENST00000586881.1_5'UTR|USP32_ENST00000393003.3_Frame_Shift_Del_p.E94fs	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	94	EF-hand 1.				protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TGCTTTCTCTTCATCTTTGCCT	0.332													-	58378975	TC	-	58378974	7	5	546	1	0	1	0	1	0	0	0	0	17165	1783	62	0	4664	0	USP32	17	58378974	Frame_Shift_Del	DEL	TC	TCGA-HT-7684-01A-11D-2253-08	15446980	58378974	22816236	36	47492											
TTYH2	94015	broad.mit.edu	37	chr17	72249349	72249349	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagtggcctgggaagtcaGaccagcctgcagcccccggc	8	4	14	15	1	1	1	1	0	0	1	1	2	1	2	5	3	4	2	5	3	1	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:72249349G>A	ENST00000441391.2	+	6	1638	c.426G>A	c.(424-426)caG>caA	p.Q142Q	TTYH2_ENST00000269346.4_Silent_p.Q463Q|TTYH2_ENST00000529107.1_Silent_p.Q442Q	NM_052869.1	NP_443101.1	Q9BSA4	TTYH2_HUMAN	tweety family member 2	463						chloride channel complex|plasma membrane	chloride channel activity|protein binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(14)|ovary(3)|pancreas(1)|stomach(3)|upper_aerodigestive_tract(1)	36						TGGGAAGTCAGACCAGCCTGC	0.647													A	72249349	G	A	72249349	2	1	546	1	0	0	0	0	0	0	0	1	16842	933	33	2		2	TTYH2	17	72249349	Silent	SNP	G	TCGA-HT-7684-01A-11D-2253-08	13870375	72249349	8945861	37	47493											
EVPL	2125	broad.mit.edu	37	chr17	74003681	74003681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggctgagcaggtccaCgatgccccctgtggccgcct	5	7	12	17	3	1	1	1	1	0	0	2	2	2	1	5	3	2	2	5	3	0	0			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr17:74003681C>T	ENST00000301607.3	-	22	5858	c.5605G>A	c.(5605-5607)Gtg>Atg	p.V1869M	EVPL_ENST00000586740.1_Missense_Mutation_p.V1891M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1869	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						AGCAGGTCCACGATGCCCCCT	0.617													T	74003681	C	T	74003681	3	4	546	1	0	0	0	0	1	0	0	0	5333	536	19	1	500	1	EVPL	17	74003681	Missense_Mutation	SNP	C	TCGA-HT-7684-01A-11D-2253-08	1754332	74003681	7191529	38	47494											
C3	718	broad.mit.edu	37	chr19	6712560	6712560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgaagtacttgggtgTcttggtgaagtggatctggt	6	16	16	3	0	2	2	0	2	2	0	2	3	2	3	0	5	1	2	0	5	3	4			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:6712560T>C	ENST00000245907.6	-	10	1170	c.1078A>G	c.(1078-1080)Aca>Gca	p.T360A		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	360					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TACTTGGGTGTCTTGGTGAAG	0.622													C	6712560	T	C	6712560	3	2	546	1	0	0	0	0	1	0	0	0	2225	1667	58	3	4041	3	C3	19	6712560	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		6712560	52416423	39	47495											
LYPD4	147719	broad.mit.edu	37	chr19	42341280	42341280	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggatcttgcctggaggaTgctgcaccaacaatctgaga	11	8	12	10	0	2	1	0	1	2	1	2	5	2	4	2	3	4	3	2	3	2	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr19:42341280T>G	ENST00000330743.3	-	5	1889	c.678A>C	c.(676-678)gcA>gcC	p.A226A	LYPD4_ENST00000601246.1_Silent_p.A191A|LYPD4_ENST00000343055.4_Silent_p.A191A	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	226						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						GCCTGGAGGATGCTGCACCAA	0.493													G	42341280	T	G	42341280	2	3	546	1	0	0	0	0	0	0	0	1	9183	1451	51	5		5	LYPD4	19	42341280	Silent	SNP	T	TCGA-HT-7684-01A-11D-2253-08	35628720	42341280	16787703	40	47496											
DLGAP4	22839	broad.mit.edu	37	chr20	35060961	35060961	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccacctgccccagccttGgggtgggcactgacaccaac	8	5	11	17	0	0	1	0	1	0	0	0	1	0	1	6	3	4	1	6	3	1	1			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chr20:35060961G>T	ENST00000373913.3	+	3	1321	c.841G>T	c.(841-843)Ggg>Tgg	p.G281W	DLGAP4_ENST00000373907.2_Missense_Mutation_p.G281W|DLGAP4_ENST00000339266.5_Missense_Mutation_p.G281W|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G281W			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	281					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CCCCAGCCTTGGGGTGGGCAC	0.632													T	35060961	G	T	35060961	3	4	546	1	0	0	0	0	1	0	0	0	4601	1348	47	4	843	4	DLGAP4	20	35060961	Missense_Mutation	SNP	G	TCGA-HT-7684-01A-11D-2253-08		35060961	27964559	41	47497											
HCCS	3052	broad.mit.edu	37	chrX	11135492	11135492	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagagaaaaagtgggttTacccttctgagcagatgttc	12	12	10	7	0	2	3	1	1	1	2	3	4	2	3	1	1	2	3	1	1	3	5			TCGA-HT-7684-01A-11D-2253-08	TCGA-HT-7684-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2a568f27-c888-41cc-8196-03e138badd58	e5c70770-2bcf-4654-8ed2-c33cd1e09326	g.chrX:11135492T>C	ENST00000321143.4	+	4	560	c.358T>C	c.(358-360)Tac>Cac	p.Y120H	HCCS_ENST00000380763.3_Missense_Mutation_p.Y120H|HCCS_ENST00000380762.4_Missense_Mutation_p.Y120H	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	120					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						AAAGTGGGTTTACCCTTCTGA	0.383													C	11135492	T	C	11135492	3	2	546	1	0	0	0	0	1	0	0	0	7045	1754	61	3	368	3	HCCS	23	11135492	Missense_Mutation	SNP	T	TCGA-HT-7684-01A-11D-2253-08		11135492	144135068	42	47498											
PRDM16	63976	broad.mit.edu	37	chr1	3342279	3342279	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaccaacctggaccGgcacctcaagaagcacgagc	13	2	11	15	2	1	2	1	0	0	2	1	4	1	3	4	2	4	4	4	2	3	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr1:3342279G>A	ENST00000378398.3	+	14	3156	c.3074G>A	c.(3073-3075)cGg>cAg	p.R1025Q	PRDM16_ENST00000442529.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000511072.1_Missense_Mutation_p.R1026Q|PRDM16_ENST00000514189.1_Missense_Mutation_p.R1025Q|PRDM16_ENST00000441472.2_Missense_Mutation_p.R1024Q|PRDM16_ENST00000270722.5_Missense_Mutation_p.R1025Q|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000378391.2_Missense_Mutation_p.R1025Q			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	1025	Interaction with CTBP1 and CTBP2 (By similarity).|Mediates interaction with SKI and regulation of TGF-beta signaling.				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		AACCTGGACCGGCACCTCAAG	0.662			T	EVI1	"MDS, AML"								A	3342279	G	A	3342279	3	1	547	1	0	0	0	0	1	0	0	0	12543	1116	39	1	3124	1	PRDM16	1	3342279	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		3342279	245908342	1	47499											
TUBA3D	113457	broad.mit.edu	37	chr2	132238149	132238149	+	Frame_Shift_Del	DEL	T	T	-																															tggccgagatcaccaatgccTgcttcgagccagccaatcaa																										TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:132238149delT	ENST00000321253.6	+	4	990	c.883delT	c.(883-885)tgcfs	p.C295fs		NM_080386.3	NP_525125.2	Q13748	TBA3C_HUMAN	tubulin, alpha 3d	295					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	32				BRCA - Breast invasive adenocarcinoma(221;0.13)		CACCAATGCCTGCTTCGAGCC	0.597													-	132238149	T	-	132238149	7	5	547	1	0	1	0	1	0	0	0	0	16849	1580	55	0	897	0	TUBA3D	2	132238149	Frame_Shift_Del	DEL	T	TCGA-HT-7686-01A-11D-2253-08		132238149	110961224	2	47500											
COBLL1	22837	broad.mit.edu	37	chr2	165550871	165550871	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctggaggttggaccaatgCactggcactaggtgactcgg	8	8	16	9	1	0	1	0	1	0	0	1	3	0	3	1	7	1	4	1	7	2	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr2:165550871C>A	ENST00000375458.2	-	11	3252	c.3031G>T	c.(3031-3033)Gca>Tca	p.A1011S	COBLL1_ENST00000392717.2_Missense_Mutation_p.A1087S|COBLL1_ENST00000342193.4_Missense_Mutation_p.A1049S|COBLL1_ENST00000194871.6_Missense_Mutation_p.A1116S|COBLL1_ENST00000409184.3_Missense_Mutation_p.A1049S	NM_001278460.1|NM_001278461.1	NP_001265389.1|NP_001265390.1	Q53SF7	COBL1_HUMAN	cordon-bleu WH2 repeat protein-like 1	1087										central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	47						TGGACCAATGCACTGGCACTA	0.473													A	165550871	C	A	165550871	3	1	547	1	0	0	0	0	1	0	0	0	3685	710	25	4	367	4	COBLL1	2	165550871	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	33312722	165550871	77648502	3	47501											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	547	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	43562241	209113112	34086261	4	47502											
PLCH1	23007	broad.mit.edu	37	chr3	155200712	155200712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgggcagtagatacaaTggtgtccccttggctggtat	8	12	13	8	0	0	1	0	0	0	1	1	1	1	1	2	4	1	4	2	4	4	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr3:155200712T>C	ENST00000460012.1	-	23	3370	c.3013A>G	c.(3013-3015)Att>Gtt	p.I1005V	PLCH1_ENST00000414191.1_Missense_Mutation_p.I1005V|PLCH1_ENST00000334686.6_Missense_Mutation_p.I1005V|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Missense_Mutation_p.I1043V|PLCH1_ENST00000447496.2_3'UTR			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1043					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)			GTAGATACAATGGTGTCCCCT	0.458													C	155200712	T	C	155200712	3	2	547	1	0	0	0	0	1	0	0	0	12114	1464	51	3	1958	3	PLCH1	3	155200712	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		155200712	42821718	5	47503											
ANXA10	11199	broad.mit.edu	37	chr4	169105805	169105805	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgatacaaagagcgataTggaaaatccctatttcatga	18	9	7	7	2	1	2	1	1	0	1	2	5	2	3	1	1	3	0	1	1	7	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr4:169105805T>C	ENST00000359299.3	+	11	1065	c.879T>C	c.(877-879)taT>taC	p.Y293Y		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	293							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		AAGAGCGATATGGAAAATCCC	0.353													C	169105805	T	C	169105805	2	2	547	1	0	0	0	0	0	0	0	1	715	1471	51	3		3	ANXA10	4	169105805	Silent	SNP	T	TCGA-HT-7686-01A-11D-2253-08		169105805	22048471	6	47504											
PRDM9	56979	broad.mit.edu	37	chr5	23526872	23526872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtctgcagggagtgtgggCggggctttagctggaagtca	7	9	18	7	2	2	0	1	0	1	0	2	2	2	2	0	5	2	3	0	5	2	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:23526872C>T	ENST00000296682.3	+	11	1857	c.1675C>T	c.(1675-1677)Cgg>Tgg	p.R559W		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	559					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding	p.R559R(1)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGAGTGTGGGCGGGGCTTTAG	0.527										HNSCC(3;0.000094)			T	23526872	C	T	23526872	3	4	547	1	0	0	0	0	1	0	0	0	12549	759	27	1	1713	1	PRDM9	5	23526872	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08		23526872	157388388	7	47505											
HCN1	348980	broad.mit.edu	37	chr5	45262356	45262356	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagagtggcctgacttcccgGgtcaggttggtgttgtgaag	6	11	17	7	1	1	3	1	2	0	1	2	4	2	3	2	4	0	2	2	4	1	3			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:45262356G>T	ENST00000303230.4	-	8	2397	c.2340C>A	c.(2338-2340)acC>acA	p.T780T		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	780						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TGACTTCCCGGGTCAGGTTGG	0.632													T	45262356	G	T	45262356	2	4	547	1	0	0	0	0	0	0	0	1	7051	1219	43	4		4	HCN1	5	45262356	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	21735484	45262356	135652904	8	47506											
DHX29	54505	broad.mit.edu	37	chr5	54577281	54577281	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaacccctgttgtacaataGagtaacctggtagattcaca	15	10	7	9	0	1	2	1	0	0	2	1	2	1	2	3	1	3	4	3	1	7	6			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr5:54577281G>C	ENST00000251636.5	-	12	2176	c.2028C>G	c.(2026-2028)ctC>ctG	p.L676L	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	676	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TTGTACAATAGAGTAACCTGG	0.393													C	54577281	G	C	54577281	2	2	547	1	0	0	0	0	0	0	0	1	4542	929	33	4		4	DHX29	5	54577281	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	9314925	54577281	126337979	9	47507											
UNC5CL	222643	broad.mit.edu	37	chr6	40996311	40996311	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actccaggatggccgctgcgGggctgcgctggcaggacagg	6	5	18	12	3	0	0	0	0	0	0	1	2	1	2	2	7	2	4	2	7	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:40996311G>T	ENST00000244565.3	-	9	1446	c.1358C>A	c.(1357-1359)cCc>cAc	p.P453H	UNC5CL_ENST00000470102.1_5'UTR|UNC5CL_ENST00000373164.1_Missense_Mutation_p.P453H	NM_173561.2	NP_775832.2	Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	453	Death.				signal transduction	cytoplasm|integral to membrane				endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GGCCGCTGCGGGGCTGCGCTG	0.672													T	40996311	G	T	40996311	3	4	547	1	0	0	0	0	1	0	0	0	17096	1232	43	4	202	4	UNC5CL	6	40996311	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		40996311	130118756	10	47508											
LAMA2	3908	broad.mit.edu	37	chr6	129468139	129468139	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggatatttcagttggaggGatgtgcatctgctatggtca	10	13	13	5	0	3	0	2	0	1	0	3	3	3	3	0	4	2	3	0	4	3	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr6:129468139G>T	ENST00000421865.2	+	6	904	c.855G>T	c.(853-855)ggG>ggT	p.G285G		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	285	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	p.G285G(1)		NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CAGTTGGAGGGATGTGCATCT	0.433													T	129468139	G	T	129468139	2	4	547	1	0	0	0	0	0	0	0	1	8665	1161	41	4		4	LAMA2	6	129468139	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	88471828	129468139	41646928	11	47509											
ADAM28	10863	broad.mit.edu	37	chr8	24201057	24201057	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcaatgtgaggaaggAtggatccctcccgactgcga	10	8	13	10	2	1	1	1	1	0	0	3	6	3	4	2	3	1	0	2	3	2	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:24201057A>G	ENST00000265769.4	+	18	2060	c.1950A>G	c.(1948-1950)ggA>ggG	p.G650G	RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.G397G|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	650	EGF-like.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GTGAGGAAGGATGGATCCCTC	0.498													G	24201057	A	G	24201057	2	3	547	1	0	0	0	0	0	0	0	1	246	320	12	3		3	ADAM28	8	24201057	Silent	SNP	A	TCGA-HT-7686-01A-11D-2253-08		24201057	122162965	12	47510											
PKHD1L1	93035	broad.mit.edu	37	chr8	110408325	110408325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgacaataagtgggcgttTctttgatcagacagatttcc	10	13	10	8	1	2	4	1	2	1	2	3	4	3	4	1	1	0	2	1	1	2	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:110408325T>C	ENST00000378402.5	+	11	985	c.881T>C	c.(880-882)tTc>tCc	p.F294S		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	294	IPT/TIG 3.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTGGGCGTTTCTTTGATCAG	0.403										HNSCC(38;0.096)			C	110408325	T	C	110408325	3	2	547	1	0	0	0	0	1	0	0	0	12049	1783	62	3	923	3	PKHD1L1	8	110408325	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08	86207268	110408325	35955697	13	47511											
EPPK1	83481	broad.mit.edu	37	chr8	144941387	144941387	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtcgatgacaccccccgtgGccacctgcacctccagcagc	7	5	10	19	2	0	1	0	1	0	0	2	2	1	1	7	2	3	2	7	2	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr8:144941387G>T	ENST00000525985.1	-	2	6106	c.6035C>A	c.(6034-6036)gCc>gAc	p.A2012D				P58107	EPIPL_HUMAN	epiplakin 1	2012						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			ACCCCCCGTGGCCACCTGCAC	0.627													T	144941387	G	T	144941387	3	4	547	1	0	0	0	0	1	0	0	0	5231	1203	42	4	1231	4	EPPK1	8	144941387	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	34533062	144941387	1422635	14	47512											
UBAP1	51271	broad.mit.edu	37	chr9	34250662	34250662	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttcttttcttagattctcGactatctctttgcacatgga	7	19	6	9	1	4	1	0	0	4	1	6	3	4	2	0	1	1	2	0	1	2	7			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr9:34250662G>T	ENST00000536252.1	+	7	1671	c.1273G>T	c.(1273-1275)Gac>Tac	p.D425Y	UBAP1_ENST00000379186.4_Missense_Mutation_p.D364Y|UBAP1_ENST00000297661.4_Missense_Mutation_p.D425Y|UBAP1_ENST00000359544.2_Missense_Mutation_p.D425Y|UBAP1_ENST00000545103.1_Missense_Mutation_p.D489Y|UBAP1_ENST00000543944.1_Missense_Mutation_p.D461Y|UBAP1_ENST00000540348.1_Missense_Mutation_p.D425Y	NM_001171203.2	NP_001164674.1	Q9NZ09	UBAP1_HUMAN	ubiquitin associated protein 1	425	UBA 1.					cytoplasm				endometrium(4)|kidney(2)|lung(6)|upper_aerodigestive_tract(1)	13			LUSC - Lung squamous cell carcinoma(29;0.00272)			TTAGATTCTCGACTATCTCTT	0.468													T	34250662	G	T	34250662	3	4	547	1	0	0	0	0	1	0	0	0	16938	1058	37	4	1528	4	UBAP1	9	34250662	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08		34250662	106962769	15	47513											
NR1H3	10062	broad.mit.edu	37	chr11	47281984	47281984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgtccacaaaagcggaaaaAggggccagcccccaaaatgc	15	2	10	14	2	0	0	0	0	0	0	1	1	1	1	5	3	3	0	5	3	6	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:47281984A>G	ENST00000467728.1	+	3	1495	c.257A>G	c.(256-258)aAg>aGg	p.K86R	NR1H3_ENST00000405576.1_Missense_Mutation_p.K41R|NR1H3_ENST00000441012.2_Missense_Mutation_p.K86R|NR1H3_ENST00000395397.3_Missense_Mutation_p.K41R|NR1H3_ENST00000405853.3_Missense_Mutation_p.K86R|NR1H3_ENST00000481889.2_Missense_Mutation_p.K41R|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000407404.1_Missense_Mutation_p.K86R|NR1H3_ENST00000527949.1_5'UTR			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	86					apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						AAGCGGAAAAAGGGGCCAGCC	0.567													G	47281984	A	G	47281984	3	3	547	1	0	0	0	0	1	0	0	0	10694	72	3	3	267	3	NR1H3	11	47281984	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		47281984	87724532	16	47514											
ARHGAP32	9743	broad.mit.edu	37	chr11	128839036	128839036	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactgctctggcgcttgccGtgtggttggtactggtacag	5	12	14	10	2	1	0	0	0	1	0	1	0	1	0	1	4	4	5	1	4	2	4			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr11:128839036G>A	ENST00000310343.9	-	22	6029	c.6030C>T	c.(6028-6030)caC>caT	p.H2010H	ARHGAP32_ENST00000527272.1_Silent_p.H1661H|ARHGAP32_ENST00000392657.3_Silent_p.H1661H|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	2010	Interaction with FYN.				cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						GGCGCTTGCCGTGTGGTTGGT	0.567													A	128839036	G	A	128839036	2	1	547	1	0	0	0	0	0	0	0	1	884	1136	40	1		1	ARHGAP32	11	128839036	Silent	SNP	G	TCGA-HT-7686-01A-11D-2253-08	81557052	128839036	6167480	17	47515											
TAS2R42	353164	broad.mit.edu	37	chr12	11339191	11339191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccacctcagccagaggaaaAgggagtgggggaagtgggct	11	5	17	8	0	1	1	1	0	0	1	2	4	2	4	3	5	1	1	3	5	3	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr12:11339191A>G	ENST00000334266.1	-	1	352	c.353T>C	c.(352-354)cTt>cCt	p.L118P		NM_181429.1	NP_852094.1	Q7RTR8	T2R42_HUMAN	taste receptor, type 2, member 42	118					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(2)|lung(4)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11			OV - Ovarian serous cystadenocarcinoma(49;0.0455)			CCAGAGGAAAAGGGAGTGGGG	0.398													G	11339191	A	G	11339191	3	3	547	1	0	0	0	0	1	0	0	0	15677	72	3	3	595	3	TAS2R42	12	11339191	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		11339191	122512704	18	47516											
AK7	122481	broad.mit.edu	37	chr14	96944967	96944967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagactgtcttcaactattTtgatgaacttgaaattcacc	12	15	6	8	0	3	4	2	4	1	1	3	5	3	4	1	0	2	0	1	0	4	6			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr14:96944967T>C	ENST00000267584.4	+	15	1765	c.1721T>C	c.(1720-1722)tTt>tCt	p.F574S		NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	574					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		TTCAACTATTTTGATGAACTT	0.478													C	96944967	T	C	96944967	3	2	547	1	0	0	0	0	1	0	0	0	444	1841	64	3	1779	3	AK7	14	96944967	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		96944967	10404573	19	47517											
ZNF592	9640	broad.mit.edu	37	chr15	85327543	85327543	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggtccaccaggtgaaaaAggctgccccactgattgtag	10	8	11	12	0	0	2	0	2	0	0	1	2	1	2	5	3	1	2	5	3	3	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:85327543A>G	ENST00000299927.3	+	1	1659	c.1637A>G	c.(1636-1638)aAg>aGg	p.K546R	ZNF592_ENST00000560079.2_Missense_Mutation_p.K546R			Q92610	ZN592_HUMAN	zinc finger protein 592	546					cell death|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CAGGTGAAAAAGGCTGCCCCA	0.572													G	85327543	A	G	85327543	3	3	547	1	0	0	0	0	1	0	0	0	18123	72	3	3	1639	3	ZNF592	15	85327543	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		85327543	17203849	20	47518											
ANPEP	290	broad.mit.edu	37	chr15	90342683	90342683	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctgcagctgagtctGaatcttcctccagttctctt	5	16	7	13	0	5	2	0	2	5	0	9	2	7	2	2	0	2	3	2	0	1	3			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr15:90342683G>T	ENST00000300060.6	-	13	2240	c.1927C>A	c.(1927-1929)Cag>Aag	p.Q643K	ANPEP_ENST00000558177.1_5'UTR	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	643	Metalloprotease.				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)	AGCTGAGTCTGAATCTTCCTC	0.592													T	90342683	G	T	90342683	3	4	547	1	0	0	0	0	1	0	0	0	710	1299	45	4	1012	4	ANPEP	15	90342683	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	5015140	90342683	12188709	21	47519											
ZZEF1	23140	broad.mit.edu	37	chr17	3970464	3970464	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaaaatcttaccatccatAttcgaatcccatctgccaag	15	10	4	12	1	2	1	0	0	2	1	5	2	4	1	4	0	2	0	4	0	7	3			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:3970464A>G	ENST00000381638.2	-	27	4272	c.4148T>C	c.(4147-4149)aTa>aCa	p.I1383T		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1383							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TACCATCCATATTCGAATCCC	0.393													G	3970464	A	G	3970464	3	3	547	1	0	0	0	0	1	0	0	0	18352	449	16	3	4853	3	ZZEF1	17	3970464	Missense_Mutation	SNP	A	TCGA-HT-7686-01A-11D-2253-08		3970464	77224746	22	47520											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	547	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	3606656	7577120	73618090	23	47521											
MYH2	4620	broad.mit.edu	37	chr17	10429940	10429940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctctgtgCgctggatggcgtccgtctcg	2	11	11	17	4	2	0	0	0	2	0	7	1	6	1	5	2	2	2	5	2	0	0			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:10429940C>T	ENST00000245503.5	-	30	4547	c.4163G>A	c.(4162-4164)cGc>cAc	p.R1388H	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1388H|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1388					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	p.R1388H(2)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						CTCCTCTGTGCGCTGGATGGC	0.512													T	10429940	C	T	10429940	3	4	547	1	0	0	0	0	1	0	0	0	10111	768	27	1	1706	1	MYH2	17	10429940	Missense_Mutation	SNP	C	TCGA-HT-7686-01A-11D-2253-08	2852820	10429940	70765270	24	47522											
TUBG1	7283	broad.mit.edu	37	chr17	40767042	40767042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggccagactacatctcctggGgcacccaggagcagtgagtc	9	6	13	13	0	1	2	0	1	1	1	3	3	1	3	3	4	2	2	3	4	1	1			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chr17:40767042G>A	ENST00000251413.3	+	11	1401	c.1339G>A	c.(1339-1341)Ggc>Agc	p.G447S		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	447					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		CATCTCCTGGGGCACCCAGGA	0.582													A	40767042	G	A	40767042	3	1	547	1	0	0	0	0	1	0	0	0	16866	1232	43	2	1381	2	TUBG1	17	40767042	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	30337102	40767042	40428168	25	47523											
CCNB3	85417	broad.mit.edu	37	chrX	50055581	50055581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggacagcagtgatccaagTttcaacccaatgtatgccaa	14	8	9	10	0	1	1	1	1	0	0	2	3	2	2	3	1	3	3	3	1	5	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:50055581T>A	ENST00000376042.1	+	7	3670	c.3372T>A	c.(3370-3372)agT>agA	p.S1124R	CCNB3_ENST00000348603.2_Intron|CCNB3_ENST00000276014.7_Missense_Mutation_p.S1124R|CCNB3_ENST00000376038.1_Intron			Q8WWL7	CCNB3_HUMAN	cyclin B3	1124					cell division|meiosis|regulation of cyclin-dependent protein kinase activity|regulation of G2/M transition of mitotic cell cycle	nucleus	protein kinase binding			breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					GTGATCCAAGTTTCAACCCAA	0.383													A	50055581	T	A	50055581	3	1	547	1	0	0	0	0	1	0	0	0	2944	1722	60	5	3390	5	CCNB3	23	50055581	Missense_Mutation	SNP	T	TCGA-HT-7686-01A-11D-2253-08		50055581	105214979	26	47524											
ATRX	546	broad.mit.edu	37	chrX	76920224	76920224	+	Frame_Shift_Del	DEL	A	A	-																															agatccatcctcatcagaggAaagattggctttaatttctt																										TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:76920224delA	ENST00000373344.5	-	11	4067	c.3853delT	c.(3853-3855)tccfs	p.S1286fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S1248fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1286				S -> P (in Ref. 4; BAD92165).	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)	TCATCAGAGGAAAGATTGGCT	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76920224	A	-	76920224	7	5	547	1	0	1	0	1	0	0	0	0	1213	246	9	0	3725	0	ATRX	23	76920224	Frame_Shift_Del	DEL	A	TCGA-HT-7686-01A-11D-2253-08	26864643	76920224	78350336	27	47525											
ATP2B3	492	broad.mit.edu	37	chrX	152826160	152826160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttcgacatcgacagcGggaggaatgcgcccctgcac	8	8	11	14	4	2	0	0	0	2	0	4	4	2	2	2	2	3	1	2	2	1	2			TCGA-HT-7686-01A-11D-2253-08	TCGA-HT-7686-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	22530a76-c1dd-4ff9-8503-ffcce2eeda5a	5cd72590-fbad-4fde-a315-5b5862bdddbf	g.chrX:152826160G>A	ENST00000370186.1	+	17	3150	c.2824G>A	c.(2824-2826)Ggg>Agg	p.G942R	ATP2B3_ENST00000393842.1_Missense_Mutation_p.G942R|ATP2B3_ENST00000349466.2_Missense_Mutation_p.G956R|ATP2B3_ENST00000359149.3_Missense_Mutation_p.G956R|ATP2B3_ENST00000263519.4_Missense_Mutation_p.G956R|ATP2B3_ENST00000460549.1_3'UTR|ATP2B3_ENST00000370181.2_Missense_Mutation_p.G942R			Q16720	AT2B3_HUMAN	ATPase, Ca++ transporting, plasma membrane 3	956					ATP biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding			NS(2)|breast(5)|endometrium(7)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(3)	50	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CATCGACAGCGGGAGGAATGC	0.552													A	152826160	G	A	152826160	3	1	547	1	0	0	0	0	1	0	0	0	1146	1116	39	1	2932	1	ATP2B3	23	152826160	Missense_Mutation	SNP	G	TCGA-HT-7686-01A-11D-2253-08	75905936	152826160	2444400	28	47526											
HIVEP3	59269	broad.mit.edu	37	chr1	42050151	42050151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgctcaggtttgccaggCgacatgaatgctggtgtcag	9	10	14	8	1	2	2	2	1	0	1	2	3	2	2	1	3	3	3	1	3	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:42050151C>T	ENST00000372584.1	-	3	1332	c.318G>A	c.(316-318)tcG>tcA	p.S106S	HIVEP3_ENST00000429157.2_Silent_p.S106S|HIVEP3_ENST00000247584.5_Silent_p.S106S|HIVEP3_ENST00000372583.1_Silent_p.S106S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	106					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)				GTTTGCCAGGCGACATGAATG	0.617													T	42050151	C	T	42050151	2	4	548	1	0	0	0	0	0	0	0	1	7243	755	27	1		1	HIVEP3	1	42050151	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		42050151	207200470	1	47527											
TNN	63923	broad.mit.edu	37	chr1	175116175	175116175	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgggcagaaagaagCggacgctgagaggaaggctg	11	5	17	8	2	0	3	0	1	0	3	1	6	1	5	1	4	1	3	1	4	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:175116175C>T	ENST00000239462.4	+	19	3981	c.3868C>T	c.(3868-3870)Cgg>Tgg	p.R1290W		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1290					cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAGAAAGAAGCGGACGCTGAG	0.592											OREG0013992	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	175116175	C	T	175116175	3	4	548	1	0	0	0	0	1	0	0	0	16423	759	27	1	3938	1	TNN	1	175116175	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	133066024	175116175	74134446	2	47528											
CACNA1S	779	broad.mit.edu	37	chr1	201042735	201042735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctccagcttcttggccatcGttgacttctcctcttctgac	4	15	7	15	1	4	2	0	2	4	0	7	2	5	2	3	1	1	3	3	1	0	5	rs147112322		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:201042735G>A	ENST00000362061.3	-	15	2325	c.2099C>T	c.(2098-2100)aCg>aTg	p.T700M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.T700M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	700					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTTGGCCATCGTTGACTTCTC	0.542													A	201042735	G	A	201042735	3	1	548	1	0	0	0	0	1	0	0	0	2573	1145	40	1	3642	1	CACNA1S	1	201042735	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25926560	201042735	48207886	3	47529											
LEFTY2	7044	broad.mit.edu	37	chr1	226125277	226125277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgacgatcatgggcagcgagGcagtctccgaggcgatacac	10	6	14	11	4	2	1	1	1	1	0	3	5	2	1	1	3	2	2	1	3	1	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:226125277G>T	ENST00000366820.5	-	4	1313	c.965C>A	c.(964-966)gCc>gAc	p.A322D	LEFTY2_ENST00000420304.2_Missense_Mutation_p.A288D	NM_003240.3	NP_003231.2	O00292	LFTY2_HUMAN	left-right determination factor 2	322					cell growth|multicellular organismal development|platelet activation|platelet degranulation|transforming growth factor beta receptor signaling pathway	extracellular space|platelet alpha granule lumen	cytokine activity|growth factor activity|transforming growth factor beta receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	16	Breast(184;0.197)					GGGCAGCGAGGCAGTCTCCGA	0.647													T	226125277	G	T	226125277	3	4	548	1	0	0	0	0	1	0	0	0	8775	1203	42	4	139	4	LEFTY2	1	226125277	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	25082542	226125277	23125344	4	47530											
OBSCN	84033	broad.mit.edu	37	chr1	228432192	228432192	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacggaggctggtgctgcCacaggcgggcaaagcagatg	10	4	16	11	2	0	1	0	0	0	1	0	2	0	2	1	5	3	4	1	5	1	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr1:228432192C>A	ENST00000570156.2	+	12	3751	c.3677C>A	c.(3676-3678)cCa>cAa	p.P1226Q	OBSCN_ENST00000422127.1_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Missense_Mutation_p.P1134Q|OBSCN_ENST00000366707.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	172	Ig-like 12.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGTGCTGCCACAGGCGGGC	0.587													A	228432192	C	A	228432192	3	1	548	1	0	0	0	0	1	0	0	0	10888	594	21	4	3439	4	OBSCN	1	228432192	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	2306915	228432192	20818429	5	47531											
MYT1L	23040	broad.mit.edu	37	chr2	1926215	1926215	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcctttgctctttcCgtttccaaagcgatggcttt	5	16	8	12	2	2	0	1	0	1	0	4	1	4	0	3	2	2	3	3	2	1	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:1926215C>T	ENST00000399161.2	-	10	2073	c.1326G>A	c.(1324-1326)acG>acA	p.T442T	MYT1L_ENST00000428368.2_Silent_p.T442T	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	442					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		TTGCTCTTTCCGTTTCCAAAG	0.547													T	1926215	C	T	1926215	2	4	548	1	0	0	0	0	0	0	0	1	10183	639	23	1		1	MYT1L	2	1926215	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08		1926215	241273158	6	47532											
C2orf43	60526	broad.mit.edu	37	chr2	21001131	21001131	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgatcatgaaagaggtctgtCcagggcccacattttagaac	12	10	10	9	0	2	4	1	2	1	2	3	4	3	4	2	2	1	0	2	2	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:21001131C>G	ENST00000237822.3	-	2	172	c.93G>C	c.(91-93)tgG>tgC	p.W31C	C2orf43_ENST00000419825.2_Missense_Mutation_p.W31C|C2orf43_ENST00000435420.2_Missense_Mutation_p.W31C|C2orf43_ENST00000541941.1_Intron|C2orf43_ENST00000440866.2_Missense_Mutation_p.W31C|C2orf43_ENST00000403006.2_Intron|C2orf43_ENST00000381090.3_Missense_Mutation_p.W31C	NM_001282721.1|NM_021925.2	NP_001269650.1|NP_068744.1	Q9H6V9	CB043_HUMAN	chromosome 2 open reading frame 43	31										endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|stomach(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGGTCTGTCCAGGGCCCAC	0.423													G	21001131	C	G	21001131	3	3	548	1	0	0	0	0	1	0	0	0	2188	856	30	4	908	4	C2orf43	2	21001131	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	19074916	21001131	222198242	7	47533											
RANBP2	5903	broad.mit.edu	37	chr2	109382889	109382889	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttcagtttggcaaaaaagAccccaatttcaagggatttt	14	13	7	7	0	2	1	2	0	0	1	2	2	2	2	2	2	0	2	2	2	5	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:109382889A>G	ENST00000283195.6	+	20	6020	c.5894A>G	c.(5893-5895)gAc>gGc	p.D1965G		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1965					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GGCAAAAAAGACCCCAATTTC	0.388													G	109382889	A	G	109382889	3	3	548	1	0	0	0	0	1	0	0	0	13116	275	10	3	5972	3	RANBP2	2	109382889	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	88381758	109382889	133816484	8	47534											
BUB1	699	broad.mit.edu	37	chr2	111398886	111398886	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaagcataacacttgcccGtttccaagtatgaaattgtc	14	12	6	9	1	0	1	0	1	0	0	2	1	1	1	2	0	3	3	2	0	6	6			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr2:111398886G>A	ENST00000535254.1	-	21	2788	c.2721C>T	c.(2719-2721)aaC>aaT	p.N907N	BUB1_ENST00000409311.1_Intron|BUB1_ENST00000302759.6_Silent_p.N927N	NM_001278616.1	NP_001265545.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	927	Protein kinase.				apoptosis|cell division|chromosome segregation|interspecies interaction between organisms|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|regulation of sister chromatid cohesion	condensed chromosome kinetochore|cytosol	ATP binding|protein binding|protein serine/threonine kinase activity			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		ACACTTGCCCGTTTCCAAGTA	0.383													A	111398886	G	A	111398886	2	1	548	1	0	0	0	0	0	0	0	1	1580	1136	40	1		1	BUB1	2	111398886	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	2015997	111398886	131800487	9	47535											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	548	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	97714226	209113112	34086261	10	47536											
CNTN3	5067	broad.mit.edu	37	chr3	74383984	74383984	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtctaacagcgggtcatgttGtacctggcagggcaatatga	10	10	13	8	1	2	1	1	1	1	0	2	1	2	1	1	3	3	4	1	3	4	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:74383984G>T	ENST00000263665.6	-	12	1597	c.1570C>A	c.(1570-1572)Caa>Aaa	p.Q524K		NM_020872.1	NP_065923.1	Q9P232	CNTN3_HUMAN	contactin 3 (plasmacytoma associated)	524	Ig-like C2-type 6.				cell adhesion	anchored to membrane|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(39)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	83		Lung NSC(201;0.138)|Lung SC(41;0.21)		Epithelial(33;0.00212)|BRCA - Breast invasive adenocarcinoma(55;0.00258)|LUSC - Lung squamous cell carcinoma(21;0.00461)|Lung(16;0.01)		GGGTCATGTTGTACCTGGCAG	0.418													T	74383984	G	T	74383984	3	4	548	1	0	0	0	0	1	0	0	0	3673	1386	48	4	1560	4	CNTN3	3	74383984	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		74383984	123638446	11	47537											
OR5K3	403277	broad.mit.edu	37	chr3	98109669	98109669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgatttatatagagcaaCgtcttcacacaccaatgtac	14	12	5	10	1	2	2	1	1	1	1	2	2	2	2	1	0	3	2	1	0	6	7	rs150899692		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:98109669C>T	ENST00000383695.1	+	1	160	c.160C>T	c.(160-162)Cgt>Tgt	p.R54C	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005516.1	NP_001005516.1	A6NET4	OR5K3_HUMAN	olfactory receptor, family 5, subfamily K, member 3	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|prostate(1)|skin(1)|urinary_tract(1)	27						TATAGAGCAACGTCTTCACAC	0.413													T	98109669	C	T	98109669	3	4	548	1	0	0	0	0	1	0	0	0	11244	536	19	1	162	1	OR5K3	3	98109669	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	23725685	98109669	99912761	12	47538											
DPPA2	151871	broad.mit.edu	37	chr3	109028103	109028103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgggaggcaaaatggtcgGcaagggaagggctggtattt	12	8	17	4	1	0	0	0	0	0	0	1	2	0	2	0	7	0	4	0	7	6	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:109028103G>A	ENST00000478945.1	-	4	502	c.256C>T	c.(256-258)Ccg>Tcg	p.P86S		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	86						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AAAATGGTCGGCAAGGGAAGG	0.443													A	109028103	G	A	109028103	3	1	548	1	0	0	0	0	1	0	0	0	4773	1203	42	2	660	2	DPPA2	3	109028103	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	10918434	109028103	88994327	13	47539											
PHC3	80012	broad.mit.edu	37	chr3	169835095	169835095	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttaacaatagcctgtggAggtttgttctctatactggg	8	15	12	6	0	1	0	0	0	1	0	2	1	1	1	1	4	3	3	1	4	5	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:169835095A>G	ENST00000495893.2	-	10	2143	c.2112T>C	c.(2110-2112)ccT>ccC	p.P704P	PHC3_ENST00000467570.1_Silent_p.P651P|PHC3_ENST00000494943.1_Silent_p.P692P	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)						multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			TAGCCTGTGGAGGTTTGTTCT	0.433													G	169835095	A	G	169835095	2	3	548	1	0	0	0	0	0	0	0	1	11895	291	11	3		3	PHC3	3	169835095	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	60806992	169835095	28187335	14	47540											
OPA1	4976	broad.mit.edu	37	chr3	193360822	193360822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaaaatgtgaaagaaggctGtaccgttagccctgaggtaa	15	8	12	6	1	0	3	0	2	0	1	0	4	0	3	2	2	2	4	2	2	7	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:193360822G>A	ENST00000361510.2	+	13	1523	c.1289G>A	c.(1288-1290)tGt>tAt	p.C430Y	OPA1_ENST00000361828.2_Missense_Mutation_p.C393Y|OPA1_ENST00000392438.3_Missense_Mutation_p.C375Y|OPA1_ENST00000361715.2_Missense_Mutation_p.C394Y|OPA1_ENST00000361150.2_Missense_Mutation_p.C376Y|OPA1_ENST00000361908.3_Missense_Mutation_p.C412Y	NM_130837.2	NP_570850.2	O60313	OPA1_HUMAN	optic atrophy 1 (autosomal dominant)	375			Missing (in OPA1).|N -> D (in OPA1).		apoptosis|axon transport of mitochondrion|inner mitochondrial membrane organization|mitochondrial fission|mitochondrial fusion|positive regulation of anti-apoptosis|response to stimulus|visual perception	dendrite|integral to membrane|mitochondrial crista|mitochondrial intermembrane space|mitochondrial outer membrane	GTP binding|GTPase activity|magnesium ion binding|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(4)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(2)	31	all_cancers(143;9.56e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;9.19e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000162)		AAAGAAGGCTGTACCGTTAGC	0.323													A	193360822	G	A	193360822	3	1	548	1	0	0	0	0	1	0	0	0	10947	1377	48	2	1339	2	OPA1	3	193360822	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	23525727	193360822	4661608	15	47541											
LMLN	89782	broad.mit.edu	37	chr3	197707307	197707307	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgttggtgctctggccacCgagagatgcagccatgaaaa	11	8	12	10	2	1	2	0	1	1	1	1	4	1	2	3	2	4	3	3	2	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr3:197707307C>T	ENST00000330198.4	+	6	682	c.660C>T	c.(658-660)acC>acT	p.T220T	LMLN_ENST00000482695.1_Silent_p.T168T|LMLN_ENST00000332636.5_Silent_p.T168T|LMLN_ENST00000420910.2_Silent_p.T220T	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	220					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding	p.T220T(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		CTCTGGCCACCGAGAGATGCA	0.502													T	197707307	C	T	197707307	2	4	548	1	0	0	0	0	0	0	0	1	8908	639	23	1		1	LMLN	3	197707307	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	4346485	197707307	315123	16	47542											
HTT	3064	broad.mit.edu	37	chr4	3225848	3225848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtcccttctctgtctccGgctactacaggtacctgagg	5	12	9	15	1	2	1	0	1	2	0	5	1	3	1	4	3	3	2	4	3	3	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:3225848G>A	ENST00000355072.5	+	56	7900	c.7755G>A	c.(7753-7755)ccG>ccA	p.P2585P		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2585					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CTCTGTCTCCGGCTACTACAG	0.512													A	3225848	G	A	3225848	2	1	548	1	0	0	0	0	0	0	0	1	7515	1103	39	1		1	HTT	4	3225848	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3225848	187928428	17	47543											
ANKRD17	26057	broad.mit.edu	37	chr4	73942823	73942823	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acacagaaaaaggcatacccTtaaaaaaggaaaacacacac	23	3	5	10	0	0	1	0	0	0	1	0	2	0	2	1	2	2	1	1	2	8	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr4:73942823T>C	ENST00000358602.4	-	33	7704		c.e33-2		ANKRD17_ENST00000330838.6_Splice_Site|ANKRD17_ENST00000509867.2_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AGGCATACCCTTAAAAAAGGA	0.388													C	73942823	T	C	73942823	5	2	548	1	0	0	0	0	0	0	1	0	646	1623	56	3	233	3	ANKRD17	4	73942823	Splice_Site	SNP	T	TCGA-HT-7687-01A-11D-2253-08	70716975	73942823	117211453	18	47544											
TRIO	7204	broad.mit.edu	37	chr5	14498282	14498282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtcgagtctgtggccGccccaaagcctcaattacct	9	10	9	13	2	2	1	1	0	1	1	3	2	2	1	5	1	2	0	5	1	4	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:14498282G>A	ENST00000344204.4	+	52	8156	c.8132G>A	c.(8131-8133)cGc>cAc	p.R2711H	TRIO_ENST00000537187.1_Missense_Mutation_p.R2535H|TRIO_ENST00000344135.5_Missense_Mutation_p.R210H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2711	Ig-like C2-type.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GTCTGTGGCCGCCCCAAAGCC	0.542													A	14498282	G	A	14498282	3	1	548	1	0	0	0	0	1	0	0	0	16653	1087	38	1	8338	1	TRIO	5	14498282	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		14498282	166416978	19	47545											
FCHSD1	89848	broad.mit.edu	37	chr5	141023973	141023973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcctctgcactctgtcCggtgtagctgtacagggcct	5	11	11	14	1	2	0	0	0	2	0	4	0	4	0	3	2	4	5	3	2	2	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:141023973C>T	ENST00000435817.2	-	17	1725	c.1675G>A	c.(1675-1677)Gga>Aga	p.G559R	FCHSD1_ENST00000523856.1_5'UTR|FCHSD1_ENST00000522783.1_Missense_Mutation_p.G485R|FCHSD1_ENST00000522126.1_3'UTR	NM_033449.2	NP_258260.1	Q86WN1	FCSD1_HUMAN	FCH and double SH3 domains 1	559	SH3 2.								FCHSD1/BRAF(2)	central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCACTCTGTCCGGTGTAGCTG	0.622													T	141023973	C	T	141023973	3	4	548	1	0	0	0	0	1	0	0	0	5838	661	23	1	413	1	FCHSD1	5	141023973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	126525691	141023973	39891287	20	47546											
SLC36A3	285641	broad.mit.edu	37	chr5	150663635	150663635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcaagttgagggtgatgctgGcctgggtgtctgacccaaac	8	9	15	9	0	1	3	0	3	1	0	1	3	1	3	2	3	2	3	2	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr5:150663635G>A	ENST00000335230.3	-	8	1355	c.944C>T	c.(943-945)gCc>gTc	p.A315V	SLC36A3_ENST00000377713.3_Missense_Mutation_p.A356V	NM_181774.3	NP_861439.3	Q495N2	S36A3_HUMAN	solute carrier family 36, member 3	315						integral to membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)|skin(1)|stomach(2)|urinary_tract(2)	21		Medulloblastoma(196;0.109)|all_hematologic(541;0.243)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGTGATGCTGGCCTGGGTGTC	0.498													A	150663635	G	A	150663635	3	1	548	1	0	0	0	0	1	0	0	0	14689	1203	42	2	480	2	SLC36A3	5	150663635	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	9639662	150663635	30251625	21	47547											
RREB1	6239	broad.mit.edu	37	chr6	7211105	7211105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccatctcctctgaaacGtaggcgattgtcctccaaga	9	10	7	15	2	2	2	0	1	2	1	6	3	5	2	5	1	1	1	5	1	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:7211105G>A	ENST00000379938.2	+	7	1031	c.494G>A	c.(493-495)cGt>cAt	p.R165H	RREB1_ENST00000334984.6_Missense_Mutation_p.R165H|RREB1_ENST00000349384.6_Missense_Mutation_p.R165H|RREB1_ENST00000379933.3_Missense_Mutation_p.R165H	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	165					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCTCTGAAACGTAGGCGATTG	0.502													A	7211105	G	A	7211105	3	1	548	1	0	0	0	0	1	0	0	0	13770	1145	40	1	508	1	RREB1	6	7211105	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		7211105	163903962	22	47548											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975227	32975227	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatagaagctggtctgggcCactccctcagtgacagtttg	9	10	12	10	0	2	2	1	1	1	1	3	3	3	2	2	2	1	2	2	2	3	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:32975227C>T	ENST00000229829.5	-	3	549	c.474G>A	c.(472-474)gtG>gtA	p.V158V	HLA-DOA_ENST00000450833.2_Silent_p.V128V|HLA-DOA_ENST00000495532.1_5'UTR	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	158	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						TGGTCTGGGCCACTCCCTCAG	0.577													T	32975227	C	T	32975227	2	4	548	1	0	0	0	0	0	0	0	1	7255	581	21	2		2	HLA-DOA	6	32975227	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	25764122	32975227	138139840	23	47549											
OPN5	221391	broad.mit.edu	37	chr6	47775993	47775993	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactccattcccatacagcTctctgtggtgccaaccctac	9	10	6	16	0	1	1	0	0	1	1	4	1	3	1	4	1	5	1	4	1	3	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:47775993T>A	ENST00000489301.2	+	5	945	c.860T>A	c.(859-861)cTc>cAc	p.L287H	OPN5_ENST00000393699.2_Missense_Mutation_p.L287H|OPN5_ENST00000244799.4_3'UTR|OPN5_ENST00000371211.2_Missense_Mutation_p.L287H			Q6U736	OPN5_HUMAN	opsin 5	287					phototransduction|protein-chromophore linkage|visual perception	integral to membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|large_intestine(3)|lung(14)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	29						CCCATACAGCTCTCTGTGGTG	0.463													A	47775993	T	A	47775993	3	1	548	1	0	0	0	0	1	0	0	0	10959	1551	54	5	878	5	OPN5	6	47775993	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	14800766	47775993	123339074	24	47550											
ZNF292	23036	broad.mit.edu	37	chr6	87968456	87968457	+	Frame_Shift_Del	DEL	AG	AG	-																															ttatttatgactgatgtaaaAgagaatttcaaaaccagtct																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:87968456_87968457delAG	ENST00000369577.3	+	8	5152_5153	c.5109_5110delAG	c.(5107-5112)aaagagfs	p.E1704fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.E1699fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1704					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		CTGATGTAAAAGAGAATTTCAA	0.327													-	87968457	AG	-	87968456	7	5	548	1	0	1	0	1	0	0	0	0	17927	69	3	0	5139	0	ZNF292	6	87968456	Frame_Shift_Del	DEL	AG	TCGA-HT-7687-01A-11D-2253-08	40192463	87968456	83146611	25	47551											
C6orf58	352999	broad.mit.edu	37	chr6	127911321	127911321	+	Frame_Shift_Del	DEL	C	C	-																															tgcagtcctctttcctacaaCcttgattagatcatataagt																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:127911321delC	ENST00000329722.7	+	5	776	c.764delC	c.(763-765)accfs	p.T255fs		NM_001010905.1	NP_001010905.1	Q6P5S2	CF058_HUMAN	chromosome 6 open reading frame 58	255						extracellular region				kidney(3)|large_intestine(3)|liver(1)|lung(7)|pancreas(1)	15				GBM - Glioblastoma multiforme(226;0.0405)|all cancers(137;0.156)		TTTCCTACAACCTTGATTAGA	0.388													-	127911321	C	-	127911321	7	5	548	1	0	1	0	1	0	0	0	0	2390	507	18	0	782	0	C6orf58	6	127911321	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	39942865	127911321	43203746	26	47552											
AHI1	54806	broad.mit.edu	37	chr6	135787392	135787392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttcagttgctaactgtgtGttcctcaatttgtttttagt	6	22	7	6	0	2	0	2	0	0	0	3	0	3	0	1	0	2	4	1	0	3	9			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr6:135787392G>A	ENST00000367800.4	-	5	525	c.309C>T	c.(307-309)aaC>aaT	p.N103N	AHI1_ENST00000457866.2_Silent_p.N103N|AHI1_ENST00000327035.6_Silent_p.N103N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	103						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		CTAACTGTGTGTTCCTCAATT	0.393													A	135787392	G	A	135787392	2	1	548	1	0	0	0	0	0	0	0	1	413	1368	48	2		2	AHI1	6	135787392	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	7876071	135787392	35327675	27	47553											
PKD1L1	168507	broad.mit.edu	37	chr7	47933628	47933628	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggcccacacagtagttgCtgtacaccacactgccttca	10	8	7	16	0	1	0	1	0	0	0	1	0	1	0	4	1	3	4	4	1	2	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:47933628C>G	ENST00000289672.2	-	15	2350	c.2300G>C	c.(2299-2301)aGc>aCc	p.S767T		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	767	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						ACAGTAGTTGCTGTACACCAC	0.572													G	47933628	C	G	47933628	3	3	548	1	0	0	0	0	1	0	0	0	12041	797	28	4	6421	4	PKD1L1	7	47933628	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		47933628	111205035	28	47554											
ABCA13	154664	broad.mit.edu	37	chr7	48411941	48411941	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttggattttgggatgtcAgtcgtcatgctgagctacct	6	15	11	9	1	3	1	2	1	1	0	4	3	3	3	1	2	3	2	1	2	1	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:48411941A>T	ENST00000435803.1	+	33	11004	c.10980A>T	c.(10978-10980)tcA>tcT	p.S3660S		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3660					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTGGGATGTCAGTCGTCATGC	0.458													T	48411941	A	T	48411941	2	4	548	1	0	0	0	0	0	0	0	1	31	175	7	5		5	ABCA13	7	48411941	Silent	SNP	A	TCGA-HT-7687-01A-11D-2253-08	478313	48411941	110726722	29	47555											
WBSCR22	114049	broad.mit.edu	37	chr7	73098232	73098232	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaaggccgtagaatttggggGtgcgggaagggaaggacccg	11	5	19	6	3	0	1	0	0	0	1	0	4	0	4	2	6	1	1	2	6	5	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:73098232G>A	ENST00000423166.2	+	2	202		c.e2+1		WBSCR22_ENST00000423497.1_Intron|WBSCR22_ENST00000265758.2_Intron|WBSCR22_ENST00000464615.1_Intron			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22							nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				GAATTTGGGGGTGCGGGAAGG	0.612													A	73098232	G	A	73098232	5	1	548	1	0	0	0	0	0	0	1	0	17367	1276	44	2		2	WBSCR22	7	73098232	Splice_Site	SNP	G	TCGA-HT-7687-01A-11D-2253-08	24686291	73098232	86040431	30	47556											
GTF2IRD2	84163	broad.mit.edu	37	chr7	74212378	74212378	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagatacttcctgagcccTtttttcagctcgtgaagctt	9	14	8	10	1	1	3	1	2	0	1	3	4	2	3	2	0	4	2	2	0	3	6			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:74212378T>C	ENST00000405086.2	-	16	1662	c.1473A>G	c.(1471-1473)aaA>aaG	p.K491K	GTF2IRD2_ENST00000451013.2_Silent_p.K38K	NM_173537.2	NP_775808	Q86UP8	GTD2A_HUMAN	GTF2I repeat domain containing 2	491					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	11						tcctgagcccttttttcagct	0.468													C	74212378	T	C	74212378	2	2	548	1	0	0	0	0	0	0	0	1	6924	1606	56	3		3	GTF2IRD2	7	74212378	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08	1114146	74212378	84926285	31	47557											
CROT	54677	broad.mit.edu	37	chr7	86990776	86990776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaattgaatgtcaactttgCgggtcctgcagctcattttg	9	14	9	9	1	2	1	2	1	0	0	3	1	3	1	1	1	4	2	1	1	3	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:86990776C>T	ENST00000331536.3	+	5	496	c.311C>T	c.(310-312)gCg>gTg	p.A104V	CROT_ENST00000442291.1_Missense_Mutation_p.A104V|CROT_ENST00000419147.2_Missense_Mutation_p.A132V	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	104					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	GTCAACTTTGCGGGTCCTGCA	0.423													T	86990776	C	T	86990776	3	4	548	1	0	0	0	0	1	0	0	0	3925	768	27	1	409	1	CROT	7	86990776	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	12778398	86990776	72147887	32	47558											
MUC17	140453	broad.mit.edu	37	chr7	100679973	100679973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacctgtcagcaccaCgccggtactcagttctgagg	10	9	10	12	2	3	1	2	1	1	0	3	1	3	1	3	2	3	4	3	2	4	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:100679973C>T	ENST00000306151.4	+	3	5340	c.5276C>T	c.(5275-5277)aCg>aTg	p.T1759M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1759	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)					GTCAGCACCACGCCGGTACTC	0.502													T	100679973	C	T	100679973	3	4	548	1	0	0	0	0	1	0	0	0	10050	536	19	1	5286	1	MUC17	7	100679973	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	13689197	100679973	58458690	33	47559											
NUP205	23165	broad.mit.edu	37	chr7	135298930	135298930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atatatcagttatgtgcatgCtctgatacatctggtcctac	10	15	7	9	0	3	1	1	1	2	0	4	1	4	1	1	1	4	3	1	1	5	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:135298930C>T	ENST00000285968.6	+	23	3245	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1073					carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						TATGTGCATGCTCTGATACAT	0.358													T	135298930	C	T	135298930	2	4	548	1	0	0	0	0	0	0	0	1	10835	805	28	2		2	NUP205	7	135298930	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	34618957	135298930	23839733	34	47560											
OR2A14	135941	broad.mit.edu	37	chr7	143826799	143826799	+	Frame_Shift_Del	DEL	C	C	-																															tggctcaaccaggtggtcatCtttgcagcctgcgtgttcat																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:143826799delC	ENST00000408899.2	+	1	649	c.594delC	c.(592-594)atcfs	p.I198fs		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	198					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					AGGTGGTCATCTTTGCAGCCT	0.577													-	143826799	C	-	143826799	7	5	548	1	0	1	0	1	0	0	0	0	11052	903	32	0	596	0	OR2A14	7	143826799	Frame_Shift_Del	DEL	C	TCGA-HT-7687-01A-11D-2253-08	8527869	143826799	15311864	35	47561											
SSPO	23145	broad.mit.edu	37	chr7	149493511	149493511	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgtatggactttcggccGcatggtgcaggcgaggtttg	5	11	16	9	4	0	0	0	0	0	0	1	2	0	1	2	5	2	4	2	5	1	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr7:149493511G>A	ENST00000378016.2	+	0	6587							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			ACTTTCGGCCGCATGGTGCAG	0.607													A	149493511	G	A	149493511	1	1	548	0	1	0	0	0	0	0	0	0	15285	1087	38	1		1	SSPO	7	149493511	RNA	SNP	G	TCGA-HT-7687-01A-11D-2253-08	5666712	149493511	9645152	36	47562											
TSTA3	7264	broad.mit.edu	37	chr8	144696860	144696860	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgttgtggggaggcccaTtgtggatctgcgggcgtggg	3	11	20	7	2	1	0	0	0	1	0	1	2	1	2	1	6	2	2	1	6	0	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr8:144696860T>C	ENST00000425753.2	-	5	501	c.398A>G	c.(397-399)aAt>aGt	p.N133S	TSTA3_ENST00000529064.1_Missense_Mutation_p.N133S	NM_003313.3	NP_003304.1	Q13630	FCL_HUMAN	tissue specific transplantation antigen P35B	133					'de novo' GDP-L-fucose biosynthetic process|leukocyte cell-cell adhesion		coenzyme binding|electron carrier activity|GDP-4-dehydro-D-rhamnose reductase activity|GDP-L-fucose synthase activity|isomerase activity			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.17e-38)|Epithelial(56;7.17e-37)|all cancers(56;2.46e-32)|Colorectal(110;0.134)|BRCA - Breast invasive adenocarcinoma(115;0.239)		NADH(DB00157)	GGGAGGCCCATTGTGGATCTG	0.662													C	144696860	T	C	144696860	3	2	548	1	0	0	0	0	1	0	0	0	16775	1493	52	3	595	3	TSTA3	8	144696860	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		144696860	1667162	37	47563											
SH3GL2	6456	broad.mit.edu	37	chr9	17795580	17795580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgccgagctctgtacGactttgaacctgaaaatgaa	11	10	9	11	2	1	3	0	3	1	0	1	5	1	3	3	0	5	3	3	0	5	2	rs139383722		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:17795580G>A	ENST00000380607.4	+	9	1018	c.898G>A	c.(898-900)Gac>Aac	p.D300N	SH3GL2_ENST00000537391.1_Missense_Mutation_p.D253N	NM_003026.2	NP_003017.1	Q99962	SH3G2_HUMAN	SH3-domain GRB2-like 2	300	SH3.				axon guidance|central nervous system development|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|post-Golgi vesicle-mediated transport	cytosol|Golgi membrane|plasma membrane	identical protein binding|lipid binding	p.D300N(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(50;2.71e-10)|Lung(42;0.203)		AGCTCTGTACGACTTTGAACC	0.463													A	17795580	G	A	17795580	3	1	548	1	0	0	0	0	1	0	0	0	14345	1058	37	1	932	1	SH3GL2	9	17795580	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		17795580	123417851	38	47564											
ROR2	4920	broad.mit.edu	37	chr9	94499693	94499693	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgattcggttttcaatcTccccctgcatctgaagcgag	7	13	9	12	2	3	2	1	2	2	0	5	3	3	2	2	1	2	2	2	1	2	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:94499693T>C	ENST00000375708.3	-	5	800	c.602A>G	c.(601-603)gAg>gGg	p.E201G	ROR2_ENST00000375715.1_Missense_Mutation_p.E61G|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	201	FZ.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GTTTTCAATCTCCCCCTGCAT	0.537													C	94499693	T	C	94499693	3	2	548	1	0	0	0	0	1	0	0	0	13618	1551	54	3	2249	3	ROR2	9	94499693	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	76704113	94499693	46713738	39	47565											
ECM2	1842	broad.mit.edu	37	chr9	95277148	95277148	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctcctcctcctcatcCtcctcctcctcccttccttg	2	14	1	24	0	2	0	2	0	0	0	11	0	11	0	10	0	0	0	10	0	0	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:95277148C>A	ENST00000344604.5	-	4	968	c.819G>T	c.(817-819)gaG>gaT	p.E273D	ECM2_ENST00000444490.2_Missense_Mutation_p.E251D|CENPP_ENST00000375587.3_Intron	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	273	Poly-Glu.				cell-matrix adhesion		integrin binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						cctcctcatcctcctcctcct	0.607													A	95277148	C	A	95277148	3	1	548	1	0	0	0	0	1	0	0	0	4937	680	24	4	1308	4	ECM2	9	95277148	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	777455	95277148	45936283	40	47566											
PAPPA	5069	broad.mit.edu	37	chr9	118949845	118949845	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgacatggaaacccatggCgcccacactgctctacctca	10	8	7	16	1	3	1	1	1	2	0	3	2	3	2	3	2	3	1	3	2	2	1	rs115729347	byFrequency	TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:118949845C>T	ENST00000328252.3	+	2	1197	c.828C>T	c.(826-828)ggC>ggT	p.G276G		NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	276	Metalloprotease.				cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						AAACCCATGGCGCCCACACTG	0.572													T	118949845	C	T	118949845	2	4	548	1	0	0	0	0	0	0	0	1	11508	755	27	1		1	PAPPA	9	118949845	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	23672697	118949845	22263586	41	47567											
RALGDS	5900	broad.mit.edu	37	chr9	135979652	135979652	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgggcactctcaccgTctccttcggccgtttctggg	2	12	12	15	3	3	0	1	0	3	0	6	0	3	0	4	4	0	2	4	4	0	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr9:135979652T>C	ENST00000393160.3	-	10	1857	c.1504A>G	c.(1504-1506)Acg>Gcg	p.T502A	RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.T556A|RALGDS_ENST00000542690.1_Missense_Mutation_p.T628A|RALGDS_ENST00000372050.3_Missense_Mutation_p.T557A|RALGDS_ENST00000372062.3_Missense_Mutation_p.T528A|RALGDS_ENST00000372047.3_Missense_Mutation_p.T545A	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	557	Ras-GEF.				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		ACTCTCACCGTCTCCTTCGGC	0.657			T	CIITA	"PMBL, Hodgkin Lymphona, "								C	135979652	T	C	135979652	3	2	548	1	0	0	0	0	1	0	0	0	13104	1667	58	3	1111	3	RALGDS	9	135979652	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	17029807	135979652	5233779	42	47568											
ANKRD30A	91074	broad.mit.edu	37	chr10	37430688	37430688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggctgcacccttggCggaaagaacacctgacacag	12	6	12	11	1	0	4	0	3	0	1	0	5	0	5	2	3	2	2	2	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:37430688C>T	ENST00000374660.1	+	7	794	c.695C>T	c.(694-696)gCg>gTg	p.A232V	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A232V|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A232V			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	288						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.A232V(1)		NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GCACCCTTGGCGGAAAGAACA	0.483													T	37430688	C	T	37430688	3	4	548	1	0	0	0	0	1	0	0	0	658	768	27	1	721	1	ANKRD30A	10	37430688	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		37430688	98104059	43	47569											
GDF10	2662	broad.mit.edu	37	chr10	48426631	48426631	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttcagaaccacattccgaTtctcatccaggaagaggacc	12	8	7	14	1	2	2	2	0	1	2	5	5	4	4	5	2	1	0	5	2	2	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:48426631T>C	ENST00000224605.2	-	3	1641	c.1376A>G	c.(1375-1377)aAt>aGt	p.N459S		NM_004962.3	NP_004953.1	P55107	BMP3B_HUMAN	growth differentiation factor 10	459					growth|skeletal system development|transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|growth factor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(20)|skin(1)	31						CACATTCCGATTCTCATCCAG	0.582											OREG0020165	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	48426631	T	C	48426631	3	2	548	1	0	0	0	0	1	0	0	0	6367	1493	52	3	64	3	GDF10	10	48426631	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	10995943	48426631	87108116	44	47570											
ERCC6	2074	broad.mit.edu	37	chr10	50667030	50667030	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccatcagtgtgggccTggaaagcgatgaagtttctc	8	10	13	10	1	2	1	1	1	1	0	3	3	2	2	3	3	1	1	3	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:50667030T>C	ENST00000355832.5	-	21	4391	c.4313A>G	c.(4312-4314)cAg>cGg	p.Q1438R	ERCC6_ENST00000542458.1_Missense_Mutation_p.Q808R|RP11-123B3.2_ENST00000423283.1_RNA	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 6	1438					base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						AGTGTGGGCCTGGAAAGCGAT	0.517								Direct reversal of damage;Nucleotide excision repair (NER)					C	50667030	T	C	50667030	3	2	548	1	0	0	0	0	1	0	0	0	5258	1580	55	3	172	3	ERCC6	10	50667030	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	2240399	50667030	84867717	45	47571											
VAX1	11023	broad.mit.edu	37	chr10	118896039	118896039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctctcgcggcccaccaCgtactggcagcgctggaact	6	7	12	16	4	1	0	0	0	1	0	3	1	2	1	3	4	3	3	3	4	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr10:118896039C>T	ENST00000277905.2	-	2	617	c.373G>A	c.(373-375)Gtg>Atg	p.V125M	VAX1_ENST00000369206.5_Missense_Mutation_p.V125M	NM_199131.2	NP_954582.1	Q5SQQ9	VAX1_HUMAN	ventral anterior homeobox 1	125						nucleus	sequence-specific DNA binding			endometrium(1)|large_intestine(1)|lung(8)|ovary(2)	12				all cancers(201;0.0108)		CGGCCCACCACGTACTGGCAG	0.667													T	118896039	C	T	118896039	3	4	548	1	0	0	0	0	1	0	0	0	17236	536	19	1	779	1	VAX1	10	118896039	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	68229009	118896039	16638708	46	47572											
C11orf42	160298	broad.mit.edu	37	chr11	6231500	6231500	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatctatgtcatctaccagGtcttctcttgttcctggctg	5	16	8	12	0	5	0	1	0	4	0	7	0	6	0	2	2	1	3	2	2	2	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:6231500G>C	ENST00000316375.2	+	2	543	c.493G>C	c.(493-495)Gtc>Ctc	p.V165L		NM_173525.2	NP_775796.2	Q8N5U0	CK042_HUMAN	chromosome 11 open reading frame 42	165										endometrium(3)|kidney(3)|large_intestine(1)|lung(4)|ovary(2)|skin(1)|soft_tissue(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.95e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATCTACCAGGTCTTCTCTTG	0.587													C	6231500	G	C	6231500	3	2	548	1	0	0	0	0	1	0	0	0	1653	1261	44	4	499	4	C11orf42	11	6231500	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6231500	128775016	47	47573											
UEVLD	55293	broad.mit.edu	37	chr11	18568522	18568522	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacattgctctgtaccacaTcaaggtacgactgagaacta	13	9	7	12	1	2	1	1	1	1	1	2	3	2	1	2	1	4	3	2	1	5	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:18568522T>A	ENST00000396197.3	-	8	819	c.791A>T	c.(790-792)gAt>gTt	p.D264V	UEVLD_ENST00000540666.1_5'UTR|UEVLD_ENST00000541984.1_Intron|UEVLD_ENST00000320750.6_Missense_Mutation_p.D242V|UEVLD_ENST00000379387.4_Missense_Mutation_p.D242V|UEVLD_ENST00000535484.1_Missense_Mutation_p.D226V|UEVLD_ENST00000543987.1_Missense_Mutation_p.D264V	NM_001040697.2|NM_001261384.1	NP_001035787.1|NP_001248313.1	Q8IX04	UEVLD_HUMAN	UEV and lactate/malate dehyrogenase domains	264					cellular carbohydrate metabolic process|protein modification process|protein transport		binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						CTGTACCACATCAAGGTACGA	0.458													A	18568522	T	A	18568522	3	1	548	1	0	0	0	0	1	0	0	0	17035	1435	50	5	644	5	UEVLD	11	18568522	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	12337022	18568522	116437994	48	47574											
OR4A16	81327	broad.mit.edu	37	chr11	55111416	55111416	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcattgtggttgcccTcgtttttgttccctgtattt	4	19	7	11	1	1	0	1	0	0	0	3	0	2	0	3	1	1	4	3	1	1	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:55111416T>C	ENST00000314721.2	+	1	790	c.740T>C	c.(739-741)cTc>cCc	p.L247P		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTGGTTGCCCTCGTTTTTGTT	0.398													C	55111416	T	C	55111416	3	2	548	1	0	0	0	0	1	0	0	0	11117	1551	54	3	742	3	OR4A16	11	55111416	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08	36542894	55111416	79895100	49	47575											
SLC22A10	387775	broad.mit.edu	37	chr11	63064875	63064875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctgtttactgtgtactaCgcttcttggcaggtttttct	4	19	8	10	1	2	0	0	0	2	0	3	0	3	0	1	2	3	5	1	2	3	8			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr11:63064875C>T	ENST00000544661.1	+	4	570	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	SLC22A10_ENST00000525620.1_3'UTR|SLC22A10_ENST00000535888.1_5'UTR|SLC22A10_ENST00000332793.6_Missense_Mutation_p.R203C|SLC22A10_ENST00000526800.1_Intron			Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	203						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CTGTGTACTACGCTTCTTGGC	0.408													T	63064875	C	T	63064875	3	4	548	1	0	0	0	0	1	0	0	0	14535	536	19	1	617	1	SLC22A10	11	63064875	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08	7953459	63064875	71941641	50	47576											
DCN	1634	broad.mit.edu	37	chr12	91546948	91546948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccatcaagatgtaattccGtaagggaaggaggaagacct	14	8	12	7	1	1	2	1	0	0	2	2	5	2	5	3	3	1	2	3	3	5	3	rs144174426		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:91546948G>A	ENST00000052754.5	-	6	1172	c.671C>T	c.(670-672)aCg>aTg	p.T224M	DCN_ENST00000303320.3_Intron|DCN_ENST00000552962.1_Missense_Mutation_p.T224M|DCN_ENST00000425043.1_Missense_Mutation_p.T77M|DCN_ENST00000228329.5_Missense_Mutation_p.T115M|DCN_ENST00000393155.1_Missense_Mutation_p.T224M|DCN_ENST00000441303.2_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.T115M|DCN_ENST00000547568.2_Missense_Mutation_p.T77M|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	224					organ morphogenesis	extracellular space		p.T224M(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						ATGTAATTCCGTAAGGGAAGG	0.348													A	91546948	G	A	91546948	3	1	548	1	0	0	0	0	1	0	0	0	4331	1145	40	1	420	1	DCN	12	91546948	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		91546948	42304947	51	47577											
MYO1H	283446	broad.mit.edu	37	chr12	109835562	109835562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatgccagaacgctccGgaatgacaactccagcagat	14	6	10	11	2	0	3	0	1	0	2	2	5	2	5	3	2	4	2	3	2	4	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:109835562G>A	ENST00000310903.5	+	5	573	c.467G>A	c.(466-468)cGg>cAg	p.R156Q	MYO1H_ENST00000431443.2_Missense_Mutation_p.R156Q			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						AGAACGCTCCGGAATGACAAC	0.408													A	109835562	G	A	109835562	3	1	548	1	0	0	0	0	1	0	0	0	10151	1116	39	1	481	1	MYO1H	12	109835562	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	18288614	109835562	24016333	52	47578											
CUX2	23316	broad.mit.edu	37	chr12	111729277	111729277	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgacagactgcagcccccCagctttgaccccagtgggca	9	5	11	16	1	0	2	0	1	0	1	0	4	0	2	5	1	3	3	5	1	0	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr12:111729277C>T	ENST00000261726.6	+	5	511	c.357C>T	c.(355-357)ccC>ccT	p.P119P		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	119						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						TGCAGCCCCCCAGCTTTGACC	0.617													T	111729277	C	T	111729277	2	4	548	1	0	0	0	0	0	0	0	1	4098	581	21	2		2	CUX2	12	111729277	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	1893715	111729277	22122618	53	47579											
PRKD1	5587	broad.mit.edu	37	chr14	30105555	30105555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttgcatctcgccactgtcGttctggcactctgccattgc	4	14	8	15	2	4	0	0	0	4	0	6	0	4	0	2	1	3	3	2	1	0	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:30105555G>A	ENST00000331968.5	-	7	1360	c.1131C>T	c.(1129-1131)aaC>aaT	p.N377N	PRKD1_ENST00000415220.2_Silent_p.N385N	NM_002742.2	NP_002733.2	Q15139	KPCD1_HUMAN	protein kinase D1	377					cell proliferation|intracellular signal transduction|sphingolipid metabolic process	cytosol|integral to plasma membrane	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|lung(32)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	78	Hepatocellular(127;0.0604)		LUAD - Lung adenocarcinoma(48;0.00527)|Lung(238;0.0252)	GBM - Glioblastoma multiforme(265;0.00888)		CGCCACTGTCGTTCTGGCACT	0.542													A	30105555	G	A	30105555	2	1	548	1	0	0	0	0	0	0	0	1	12604	1136	40	1		1	PRKD1	14	30105555	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		30105555	77243985	54	47580											
CLEC14A	161198	broad.mit.edu	37	chr14	38724727	38724727	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtacttgcacaggtagccGttggcgcgcaggtggcatcg	6	9	16	10	4	0	0	0	0	0	0	1	0	0	0	1	5	3	6	1	5	2	4			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr14:38724727G>A	ENST00000342213.2	-	1	847	c.501C>T	c.(499-501)aaC>aaT	p.N167N		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	167	C-type lectin.					integral to membrane	sugar binding	p.N167N(1)		breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		ACAGGTAGCCGTTGGCGCGCA	0.682													A	38724727	G	A	38724727	2	1	548	1	0	0	0	0	0	0	0	1	3530	1136	40	1		1	CLEC14A	14	38724727	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	8619172	38724727	68624813	55	47581											
NEO1	4756	broad.mit.edu	37	chr15	73541990	73541990	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatacagagtatagtttcCgagtggtggcctacaataaa	15	11	9	6	1	0	1	0	0	0	1	1	2	1	1	2	2	2	2	2	2	9	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr15:73541990C>T	ENST00000339362.5	+	12	2269	c.1822C>T	c.(1822-1824)Cga>Tga	p.R608*	NEO1_ENST00000558964.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000560262.1_Nonsense_Mutation_p.R608*|NEO1_ENST00000261908.6_Nonsense_Mutation_p.R608*			Q92859	NEO1_HUMAN	neogenin 1	608	Fibronectin type-III 2.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						GTATAGTTTCCGAGTGGTGGC	0.378													T	73541990	C	T	73541990	4	4	548	1	0	0	0	0	0	1	0	0	10412	644	23	1	1864	1	NEO1	15	73541990	Nonsense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		73541990	28989402	56	47582											
NAGPA	51172	broad.mit.edu	37	chr16	5081777	5081777	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctcgtcacactctgtggcTtggctctcgttgatgtagat	5	15	11	10	2	4	2	1	1	3	1	6	2	4	2	0	2	0	4	0	2	1	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:5081777T>C	ENST00000312251.3	-	3	670	c.651A>G	c.(649-651)caA>caG	p.Q217Q	NAGPA_ENST00000381955.3_Silent_p.Q217Q|RP11-165E7.1_ENST00000588778.1_RNA	NM_016256.3	NP_057340.2	Q9UK23	NAGPA_HUMAN	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase	217					carbohydrate metabolic process|lysosome organization|protein modification process|protein targeting to lysosome	Golgi cisterna membrane|integral to membrane	N-acetylglucosamine-1-phosphodiester alpha-N-acetylglucosaminidase activity			endometrium(4)|large_intestine(4)|lung(3)|urinary_tract(1)	12					N-Acetyl-D-glucosamine(DB00141)	ACTCTGTGGCTTGGCTCTCGT	0.572													C	5081777	T	C	5081777	2	2	548	1	0	0	0	0	0	0	0	1	10220	1606	56	3		3	NAGPA	16	5081777	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		5081777	85272976	57	47583											
PDP2	57546	broad.mit.edu	37	chr16	66919576	66919576	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaggaaagccagcgggctCcacgaggctgaccaaaatgc	13	3	13	12	2	0	2	0	1	0	1	1	4	1	3	3	3	3	2	3	3	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:66919576C>T	ENST00000311765.2	+	2	1723	c.1389C>T	c.(1387-1389)ctC>ctT	p.L463L	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	463					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		CCAGCGGGCTCCACGAGGCTG	0.617													T	66919576	C	T	66919576	2	4	548	1	0	0	0	0	0	0	0	1	11762	842	30	2		2	PDP2	16	66919576	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	61837799	66919576	23435177	58	47584											
PKD1L2	114780	broad.mit.edu	37	chr16	81161555	81161555	+	RNA	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atccagggaatatggtgcacGgcatccgttgagatatgcct	10	10	12	9	2	0	1	0	1	0	1	2	3	2	2	3	3	2	3	3	3	3	3			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr16:81161555G>T	ENST00000533478.1	-	0	4215				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TATGGTGCACGGCATCCGTTG	0.567													T	81161555	G	T	81161555	1	4	548	0	1	0	0	0	0	0	0	0	12042	1116	39	4		4	PKD1L2	16	81161555	RNA	SNP	G	TCGA-HT-7687-01A-11D-2253-08	14241979	81161555	9193198	59	47585											
MINK1	50488	broad.mit.edu	37	chr17	4797498	4797498	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagcggaacctgctgcaTgctgacagcaatgggtacac	11	6	14	10	1	0	1	0	1	0	0	0	4	0	3	1	3	7	5	1	3	3	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:4797498T>C	ENST00000355280.6	+	23	2896	c.2700T>C	c.(2698-2700)caT>caC	p.H900H	MINK1_ENST00000347992.7_Silent_p.H871H|MINK1_ENST00000453408.3_Silent_p.H880H	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	900	Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						ACCTGCTGCATGCTGACAGCA	0.622													C	4797498	T	C	4797498	2	2	548	1	0	0	0	0	0	0	0	1	9662	1461	51	3		3	MINK1	17	4797498	Silent	SNP	T	TCGA-HT-7687-01A-11D-2253-08		4797498	76397712	60	47586											
DDX5	1655	broad.mit.edu	37	chr17	62500099	62500102	+	Splice_Site	DEL	ACAG	ACAG	-																															tcaagagttctcccaaacttAcagacaatgttttcccagat																										TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr17:62500099_62500102delACAG	ENST00000225792.5	-	4	841_843	c.440_442delCTGT	c.(439-444)tctgta>tta	p.SV147fs	DDX5_ENST00000450599.2_Intron|DDX5_ENST00000578804.1_Splice_Site_p.SV147fs	NM_004396.3	NP_004387.1	P17844	DDX5_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 5	147	Helicase ATP-binding.				cell growth|regulation of alternative nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA helicase activity|transcription cofactor activity			breast(3)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	19	Breast(5;2.15e-14)		BRCA - Breast invasive adenocarcinoma(8;8.6e-12)			TCCCAAACTTACAGACAATGTTTT	0.397			T	ETV4	prostate								-	62500102	ACAG	-	62500099	8	5	548	1	0	1	0	1	0	0	1	0	4401	405	14	0	1441	0	DDX5	17	62500099	Splice_Site	DEL	ACAG	TCGA-HT-7687-01A-11D-2253-08	57702601	62500099	18695111	61	47587											
MYOM1	8736	broad.mit.edu	37	chr18	3135615	3135615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcctgcagaattagaacaGcggacacggaaacagtagga	16	5	11	9	2	0	2	0	0	0	2	1	5	1	5	1	3	4	2	1	3	5	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:3135615G>A	ENST00000400569.3	-	15	2472	c.2139C>T	c.(2137-2139)cgC>cgT	p.R713R	MYOM1_ENST00000356443.4_Silent_p.R713R|MYOM1_ENST00000261606.7_Silent_p.R713R			P52179	MYOM1_HUMAN	myomesin 1	713	Fibronectin type-III 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AATTAGAACAGCGGACACGGA	0.512													A	3135615	G	A	3135615	2	1	548	1	0	0	0	0	0	0	0	1	10167	958	34	2		2	MYOM1	18	3135615	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08		3135615	74941633	62	47588											
AQP4	361	broad.mit.edu	37	chr18	24442317	24442317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagggttgatgtggccaccGctgatatggccaaagcactg	9	8	14	10	1	0	2	0	2	0	0	0	2	0	2	3	3	1	4	3	3	2	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr18:24442317G>A	ENST00000383168.4	-	2	404	c.276C>T	c.(274-276)agC>agT	p.S92S	AQP4_ENST00000440832.3_Silent_p.S70S|AQP4-AS1_ENST00000582605.1_RNA|AQP4_ENST00000581374.1_Silent_p.S70S|AQP4-AS1_ENST00000579964.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	92					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					TGTGGCCACCGCTGATATGGC	0.557													A	24442317	G	A	24442317	2	1	548	1	0	0	0	0	0	0	0	1	831	1078	38	1		1	AQP4	18	24442317	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	21306702	24442317	53634931	63	47589											
TNFSF14	8740	broad.mit.edu	37	chr19	6670062	6670062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccacaaacactgagggccGtacgacactctcctccatgc	11	6	7	17	2	1	1	0	1	1	0	3	2	2	1	4	1	3	1	4	1	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:6670062G>A	ENST00000326176.9	-	2	400	c.19C>T	c.(19-21)Cgg>Tgg	p.R7W	TNFSF14_ENST00000599359.1_Missense_Mutation_p.R7W|TNFSF14_ENST00000245912.3_Missense_Mutation_p.R7W	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	7					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						ACTGAGGGCCGTACGACACTC	0.602													A	6670062	G	A	6670062	3	1	548	1	0	0	0	0	1	0	0	0	16407	1144	40	1	719	1	TNFSF14	19	6670062	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08		6670062	52458921	64	47590											
LPHN1	22859	broad.mit.edu	37	chr19	14271032	14271032	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcacagaggaggagacGtcccccgcgtagatggagcc	10	5	14	12	3	1	3	1	0	0	3	2	6	2	5	3	3	2	2	3	3	1	2	rs150872915		TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:14271032G>A	ENST00000340736.6	-	9	2004	c.1707C>T	c.(1705-1707)gaC>gaT	p.D569D	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.D564D|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	569					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						AGGAGGAGACGTCCCCCGCGT	0.662													A	14271032	G	A	14271032	2	1	548	1	0	0	0	0	0	0	0	1	8985	1136	40	1		1	LPHN1	19	14271032	Silent	SNP	G	TCGA-HT-7687-01A-11D-2253-08	7600970	14271032	44857951	65	47591											
LRRC4B	94030	broad.mit.edu	37	chr19	51022537	51022537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggcaccgtggtcagccGgttgtcaaaaagctccagcg	8	7	14	12	4	2	0	2	0	0	0	3	0	3	0	3	3	3	3	3	3	2	1			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr19:51022537G>A	ENST00000599957.1	-	3	630	c.433C>T	c.(433-435)Cgg>Tgg	p.R145W	LRRC4B_ENST00000389201.3_Missense_Mutation_p.R145W			Q9NT99	LRC4B_HUMAN	leucine rich repeat containing 4B	145						cell junction|integral to membrane|presynaptic membrane				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|liver(1)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	30		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00284)|GBM - Glioblastoma multiforme(134;0.0188)		GTGGTCAGCCGGTTGTCAAAA	0.622													A	51022537	G	A	51022537	3	1	548	1	0	0	0	0	1	0	0	0	9077	1115	39	1	1712	1	LRRC4B	19	51022537	Missense_Mutation	SNP	G	TCGA-HT-7687-01A-11D-2253-08	36751505	51022537	8106446	66	47592											
DEFB119	245932	broad.mit.edu	37	chr20	29976970	29976970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accgtttacgatttcggcagCgtatgatgctgtcttcacca	8	13	9	11	4	2	1	1	1	1	0	3	2	2	1	2	1	3	4	2	1	2	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:29976970C>T	ENST00000376315.2	-	2	124	c.125G>A	c.(124-126)cGc>cAc	p.R42H	DEFB119_ENST00000492344.1_Intron|DEFB119_ENST00000376321.3_Intron|DEFB119_ENST00000339144.3_Intron	NM_001271209.1|NM_153323.4	NP_001258138.1|NP_697018.1	Q8N690	DB119_HUMAN	defensin, beta 119	48					defense response to bacterium	extracellular region				large_intestine(2)|lung(1)|prostate(1)	4	all_hematologic(12;0.158)		Colorectal(19;0.00254)|COAD - Colon adenocarcinoma(19;0.0347)			ATTTCGGCAGCGTATGATGCT	0.453													T	29976970	C	T	29976970	3	4	548	1	0	0	0	0	1	0	0	0	4445	768	27	1	387	1	DEFB119	20	29976970	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		29976970	33048550	67	47593											
FAM83D	81610	broad.mit.edu	37	chr20	37580213	37580213	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatggcaaattaaacagcAgtaacttggtaattctgtct	13	12	9	7	1	2	0	0	0	2	0	2	1	2	1	0	3	3	4	0	3	5	5			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:37580213A>C	ENST00000217429.4	+	4	939	c.898A>C	c.(898-900)Agt>Cgt	p.S300R		NM_030919.2	NP_112181.2	Q9H4H8	FA83D_HUMAN	family with sequence similarity 83, member D	270					cell division|mitosis	cytoplasm|spindle pole				endometrium(2)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)|stomach(1)	28		Myeloproliferative disorder(115;0.00878)				ATTAAACAGCAGTAACTTGGT	0.428													C	37580213	A	C	37580213	3	2	548	1	0	0	0	0	1	0	0	0	5686	188	7	5	912	5	FAM83D	20	37580213	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	7603243	37580213	25445307	68	47594											
CSTF1	1477	broad.mit.edu	37	chr20	54974333	54974333	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattttttccaaaaattctaAatacattctctcaagtggaa	15	15	3	8	0	3	0	1	0	2	0	5	1	4	1	1	1	1	0	1	1	7	7			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr20:54974333A>G	ENST00000217109.4	+	5	1308	c.956A>G	c.(955-957)aAa>aGa	p.K319R	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	319					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			AAAAATTCTAAATACATTCTC	0.388													G	54974333	A	G	54974333	3	3	548	1	0	0	0	0	1	0	0	0	4016	14	1	3	970	3	CSTF1	20	54974333	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	17394120	54974333	8051187	69	47595											
TIAM1	7074	broad.mit.edu	37	chr21	32589897	32589897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttggccgtccctgcttcTttttggaggtagtatccaga	5	15	11	10	1	1	1	0	0	1	1	3	2	3	2	3	3	2	4	3	3	2	6			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:32589897T>C	ENST00000286827.3	-	10	2585	c.2114A>G	c.(2113-2115)aAg>aGg	p.K705R	TIAM1_ENST00000541036.1_Missense_Mutation_p.K705R|TIAM1_ENST00000469412.1_5'UTR	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	705					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						TCCCTGCTTCTTTTTGGAGGT	0.522													C	32589897	T	C	32589897	3	2	548	1	0	0	0	0	1	0	0	0	15990	1609	56	3	2741	3	TIAM1	21	32589897	Missense_Mutation	SNP	T	TCGA-HT-7687-01A-11D-2253-08		32589897	15539998	70	47596											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032410	46032410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaactgctgcaagccCgtgtgctgcgtgtccatctg	7	10	11	13	2	1	0	0	0	1	0	3	0	3	0	3	0	6	3	3	0	3	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chr21:46032410C>T	ENST00000334662.2	+	1	415	c.393C>T	c.(391-393)ccC>ccT	p.P131P	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	131	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						GCTGCAAGCCCGTGTGCTGCG	0.632													T	46032410	C	T	46032410	2	4	548	1	0	0	0	0	0	0	0	1	8573	639	23	1		1	KRTAP10-8	21	46032410	Silent	SNP	C	TCGA-HT-7687-01A-11D-2253-08	13442513	46032410	2097485	71	47597											
CDKL5	6792	broad.mit.edu	37	chrX	18646678	18646678	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catccggcaggaacccgcacCgaagggcaggccagccctcc	9	2	12	18	3	0	0	0	0	0	0	2	2	2	1	6	4	2	3	6	4	2	0			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:18646678C>A	ENST00000379989.3	+	19	2969	c.2684C>A	c.(2683-2685)cCg>cAg	p.P895Q	CDKL5_ENST00000379996.3_Missense_Mutation_p.P895Q	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	895					neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					GAACCCGCACCGAAGGGCAGG	0.577													A	18646678	C	A	18646678	3	1	548	1	0	0	0	0	1	0	0	0	3187	652	23	4	2750	4	CDKL5	23	18646678	Missense_Mutation	SNP	C	TCGA-HT-7687-01A-11D-2253-08		18646678	136623882	72	47598											
IL13RA1	3597	broad.mit.edu	37	chrX	117900529	117900529	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaatccagaatttgagAgaaatgtggaggtcagtaaa	16	9	13	3	0	1	4	1	2	0	3	2	7	2	5	1	2	0	1	1	2	5	2			TCGA-HT-7687-01A-11D-2253-08	TCGA-HT-7687-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e34b8386-87a8-421b-a6bd-508c451d5300	4172944b-df65-47bc-8567-9748e088836a	g.chrX:117900529A>G	ENST00000371666.3	+	7	932	c.865A>G	c.(865-867)Aga>Gga	p.R289G	IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	289						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGAATTTGAGAGAAATGTGGA	0.338													G	117900529	A	G	117900529	3	3	548	1	0	0	0	0	1	0	0	0	7687	296	11	3	891	3	IL13RA1	23	117900529	Missense_Mutation	SNP	A	TCGA-HT-7687-01A-11D-2253-08	99253851	117900529	37370031	73	47599											
PRAMEF11	440560	broad.mit.edu	37	chr1	12885051	12885051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcagcaggttctccagggTggccatgcagatgggatttc	7	10	14	10	0	2	1	1	0	1	1	4	2	2	2	2	4	2	4	2	4	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:12885051T>C	ENST00000535591.1	-	4	1255	c.1060A>G	c.(1060-1062)Acc>Gcc	p.T354A		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	354										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						TTCTCCAGGGTGGCCATGCAG	0.532													C	12885051	T	C	12885051	3	2	549	1	0	0	0	0	1	0	0	0	12509	1696	59	3	254	3	PRAMEF11	1	12885051	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		12885051	236365570	1	47600											
TAS1R2	80834	broad.mit.edu	37	chr1	19181078	19181078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaggcgatccacacggCgccagtgaagttctggcgca	8	6	14	13	5	1	1	0	1	1	0	3	3	2	2	2	4	0	2	2	4	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:19181078C>T	ENST00000375371.3	-	3	907	c.886G>A	c.(886-888)Gcc>Acc	p.A296T	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	296					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	ATCCACACGGCGCCAGTGAAG	0.637													T	19181078	C	T	19181078	3	4	549	1	0	0	0	0	1	0	0	0	15660	768	27	1	1649	1	TAS1R2	1	19181078	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	6296027	19181078	230069543	2	47601											
ARID1A	8289	broad.mit.edu	37	chr1	27100176	27100176	+	Frame_Shift_Del	DEL	C	C	-																															atgtattctcctagccgctaCcccccgcagcagcagcagca																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:27100176delC	ENST00000324856.7	+	16	4343	c.3972delC	c.(3970-3972)tacfs	p.Y1324fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y1324fs|ARID1A_ENST00000540690.1_5'UTR|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y941fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1324					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	p.Y1324*(1)	ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CTAGCCGCTACCCCCCgcagc	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27100176	C	-	27100176	7	5	549	1	0	1	0	1	0	0	0	0	916	518	18	0	4034	0	ARID1A	1	27100176	Frame_Shift_Del	DEL	C	TCGA-HT-7688-01A-11D-2253-08	7919098	27100176	222150445	3	47602											
SNRNP40	9410	broad.mit.edu	37	chr1	31744294	31744294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactcaggccagtcactgaaTctgcatggcctctcatggtg	9	10	10	12	0	4	1	3	1	2	0	5	1	4	1	2	3	2	1	2	3	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:31744294T>C	ENST00000263694.4	-	6	725	c.707A>G	c.(706-708)gAt>gGt	p.D236G	SNRNP40_ENST00000489853.1_5'UTR|SNRNP40_ENST00000446633.2_Missense_Mutation_p.D236G	NM_004814.2	NP_004805.2	Q96DI7	SNR40_HUMAN	small nuclear ribonucleoprotein 40kDa (U5)	236						catalytic step 2 spliceosome|cytoplasm|nucleoplasm|small nucleolar ribonucleoprotein complex|U5 snRNP	protein binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)	7						AGTCACTGAATCTGCATGGCC	0.448													C	31744294	T	C	31744294	3	2	549	1	0	0	0	0	1	0	0	0	14950	1435	50	3	386	3	SNRNP40	1	31744294	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4644118	31744294	217506327	4	47603											
RLF	6018	broad.mit.edu	37	chr1	40702367	40702367	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaattagaagattgccacCtgcaagacagagatttgtat	15	10	9	7	0	0	4	0	0	0	4	0	5	0	4	2	0	2	3	2	0	5	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:40702367C>G	ENST00000372771.4	+	8	2020	c.1993C>G	c.(1993-1995)Ctg>Gtg	p.L665V		NM_012421.3	NP_036553.2	Q13129	RLF_HUMAN	rearranged L-myc fusion	665					chromosome organization|DNA integration|DNA mediated transformation|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		DNA binding|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(18)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(4)|urinary_tract(2)	68	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;5.87e-19)|Epithelial(16;7.02e-16)|all cancers(16;1.69e-14)|Lung(16;0.0427)|LUSC - Lung squamous cell carcinoma(16;0.0461)			AGATTGCCACCTGCAAGACAG	0.418													G	40702367	C	G	40702367	3	3	549	1	0	0	0	0	1	0	0	0	13480	680	24	4	2023	4	RLF	1	40702367	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	8958073	40702367	208548254	5	47604											
CYP4Z1	199974	broad.mit.edu	37	chr1	47533183	47533183	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagccctcctggcttcaGgaactcatggctcacccctt	7	10	9	15	0	3	0	3	0	0	0	4	2	4	2	4	4	2	2	4	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:47533183G>C	ENST00000334194.3	+	1	24	c.21G>C	c.(19-21)caG>caC	p.Q7H		NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	7						endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						CCTGGCTTCAGGAACTCATGG	0.522													C	47533183	G	C	47533183	3	2	549	1	0	0	0	0	1	0	0	0	4227	991	35	4	23	4	CYP4Z1	1	47533183	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6830816	47533183	201717438	6	47605											
PTGER3	5733	broad.mit.edu	37	chr1	71418728	71418728	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctgtatctgagagttctgCaaactgcagattaactaacc	12	12	7	10	0	3	2	0	1	3	2	3	3	3	2	1	0	5	4	1	0	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:71418728C>A	ENST00000356595.4	-	4	1329	c.1119G>T	c.(1117-1119)ttG>ttT	p.L373F	PTGER3_ENST00000351052.5_Intron|PTGER3_ENST00000370932.2_Intron|PTGER3_ENST00000354608.5_Intron|PTGER3_ENST00000460330.1_Intron|PTGER3_ENST00000414819.1_3'UTR|PTGER3_ENST00000370931.3_Intron	NM_198718.1	NP_942011.1	P43115	PE2R3_HUMAN	prostaglandin E receptor 3 (subtype EP3)	0					cell death|positive regulation of fever generation|transcription, DNA-dependent	integral to plasma membrane|nuclear envelope	ligand-dependent nuclear receptor activity|prostaglandin E receptor activity			endometrium(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	25					Bimatoprost(DB00905)	gagagttctgcaaactgcaga	0.338													A	71418728	C	A	71418728	3	1	549	1	0	0	0	0	1	0	0	0	12830	709	25	4	166	4	PTGER3	1	71418728	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	23885545	71418728	177831893	7	47606											
AGL	178	broad.mit.edu	37	chr1	100353559	100353559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctccagattaactttggctGagctaaatcagatcctttac	11	13	6	11	0	1	3	1	1	0	2	3	3	3	3	3	1	3	2	3	1	4	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:100353559G>A	ENST00000294724.4	+	21	3185	c.2707G>A	c.(2707-2709)Gag>Aag	p.E903K	AGL_ENST00000361915.3_Missense_Mutation_p.E903K|AGL_ENST00000361522.4_Missense_Mutation_p.E886K|AGL_ENST00000370163.3_Missense_Mutation_p.E903K|AGL_ENST00000370165.3_Missense_Mutation_p.E903K|AGL_ENST00000370161.2_Missense_Mutation_p.E887K|AGL_ENST00000361302.3_Missense_Mutation_p.E887K	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	903					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		AACTTTGGCTGAGCTAAATCA	0.373													A	100353559	G	A	100353559	3	1	549	1	0	0	0	0	1	0	0	0	384	1291	45	2	2854	2	AGL	1	100353559	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	28934831	100353559	148897062	8	47607											
SYCP1	6847	broad.mit.edu	37	chr1	115487052	115487052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaattgaggacaaaaagatAtcagaagaaaatcttttgga	20	9	9	3	0	2	4	1	1	1	3	2	7	2	6	0	2	0	0	0	2	7	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:115487052A>G	ENST00000369522.3	+	24	2259	c.2019A>G	c.(2017-2019)atA>atG	p.I673M	SYCP1_ENST00000369518.1_Missense_Mutation_p.I673M	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	673					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAAAAAGATATCAGAAGAAA	0.279													G	115487052	A	G	115487052	3	3	549	1	0	0	0	0	1	0	0	0	15528	439	16	3	2109	3	SYCP1	1	115487052	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15133493	115487052	133763569	9	47608											
HIST2H2AB	317772	broad.mit.edu	37	chr1	149859423	149859423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgcgggacgagcgcgacttgGccttagcgcgggccttgcct	4	7	16	14	7	0	0	0	0	0	0	0	3	0	1	3	3	3	0	3	3	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:149859423G>C	ENST00000331128.3	-	1	43	c.44C>G	c.(43-45)gCc>gGc	p.A15G		NM_175065.2	NP_778235.1	Q8IUE6	H2A2B_HUMAN	histone cluster 2, H2ab	15					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	15	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			GCGCGACTTGGCCTTAGCGCG	0.602													C	149859423	G	C	149859423	3	2	549	1	0	0	0	0	1	0	0	0	7232	1203	42	4	352	4	HIST2H2AB	1	149859423	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	34372371	149859423	99391198	10	47609											
FLG2	388698	broad.mit.edu	37	chr1	152323513	152323513	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactgtggccagatccccttCttccagttgtcctggaccct	5	12	8	16	0	1	1	0	0	1	1	4	2	4	2	6	2	0	1	6	2	0	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:152323513C>G	ENST00000388718.5	-	3	6821	c.6749G>C	c.(6748-6750)aGa>aCa	p.R2250T	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2250							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGATCCCCTTCTTCCAGTTGT	0.522													G	152323513	C	G	152323513	3	3	549	1	0	0	0	0	1	0	0	0	5972	913	32	4	430	4	FLG2	1	152323513	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2464090	152323513	96927108	11	47610											
SPRR2F	6705	broad.mit.edu	37	chr1	153085129	153085129	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggcacttcgggggtggAcatggctctgggcactttgg	5	10	17	9	1	2	0	1	0	1	0	3	1	2	1	0	7	0	3	0	7	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:153085129A>G	ENST00000468739.1	-	2	141	c.81T>C	c.(79-81)tgT>tgC	p.C27C	SPRR2B_ENST00000368752.4_Intron	NM_001014450.1	NP_001014450.1	Q96RM1	SPR2F_HUMAN	small proline-rich protein 2F	27	3 X 9 AA tandem repeats of [PS]-K-C-P- [EQ]-[PS]-C-P-P.				keratinization	cornified envelope|cytoplasm				large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	4	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			TCGGGGGTGGACATGGCTCTG	0.607													G	153085129	A	G	153085129	2	3	549	1	0	0	0	0	0	0	0	1	15197	273	10	3		3	SPRR2F	1	153085129	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	761616	153085129	96165492	12	47611											
CD1B	910	broad.mit.edu	37	chr1	158299224	158299224	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgacaggacaggccagcCgcctccccatctgccacatc	9	4	8	20	2	1	0	0	0	1	0	3	2	2	1	7	2	2	0	7	2	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158299224C>T	ENST00000368168.3	-	4	929	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_001764.2	NP_001755.1	P29016	CD1B_HUMAN	CD1b molecule	274	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to membrane|lysosomal membrane|plasma membrane	protein binding			breast(2)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	30	all_hematologic(112;0.0378)					ACAGGCCAGCCGCCTCCCCAT	0.582													T	158299224	C	T	158299224	2	4	549	1	0	0	0	0	0	0	0	1	3005	639	23	1		1	CD1B	1	158299224	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5214095	158299224	90951397	13	47612											
CD1E	913	broad.mit.edu	37	chr1	158325321	158325321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccctcgatttctagcggGgctcatggaagcaggggagt	7	9	15	10	2	2	0	1	0	1	0	3	3	2	2	1	5	3	2	1	5	2	2	rs142840776		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:158325321G>A	ENST00000444681.2	+	2	583	c.290G>A	c.(289-291)gGg>gAg	p.G97E	CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368161.3_Missense_Mutation_p.G196E|CD1E_ENST00000368160.3_Missense_Mutation_p.G196E|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000368167.3_Missense_Mutation_p.G196E|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368163.3_Missense_Mutation_p.G196E|CD1E_ENST00000434258.1_Missense_Mutation_p.G194E|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368156.1_Intron	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	196					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen		p.G196E(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TTTCTAGCGGGGCTCATGGAA	0.473													A	158325321	G	A	158325321	3	1	549	1	0	0	0	0	1	0	0	0	3008	1232	43	2	597	2	CD1E	1	158325321	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26097	158325321	90925300	14	47613											
SCYL3	57147	broad.mit.edu	37	chr1	169823532	169823532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaagcagcagaaggcttaAtttctgggatcatatcagca	15	9	10	7	0	3	1	2	0	1	1	3	3	3	2	0	2	3	4	0	2	5	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:169823532A>G	ENST00000367771.6	-	12	2100	c.1886T>C	c.(1885-1887)aTt>aCt	p.I629T	SCYL3_ENST00000367772.4_Missense_Mutation_p.I683T|SCYL3_ENST00000367770.1_Missense_Mutation_p.I683T	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Interaction with EZR.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					AGAAGGCTTAATTTCTGGGAT	0.393													G	169823532	A	G	169823532	3	3	549	1	0	0	0	0	1	0	0	0	14042	101	4	3	188	3	SCYL3	1	169823532	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11498211	169823532	79427089	15	47614											
OBSCN	84033	broad.mit.edu	37	chr1	228492063	228492063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggccagagaaggggccacgGccacactgcactgtgaactg	11	4	14	12	1	0	2	0	1	0	1	0	3	0	2	3	4	2	1	3	4	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:228492063G>A	ENST00000570156.2	+	53	14136	c.14062G>A	c.(14062-14064)Gcc>Acc	p.A4688T	OBSCN_ENST00000284548.11_Intron|OBSCN_ENST00000422127.1_Intron|OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000366707.4_Missense_Mutation_p.A1378T	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3731	Ig-like 47.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGGGCCACGGCCACACTGCA	0.582													A	228492063	G	A	228492063	3	1	549	1	0	0	0	0	1	0	0	0	10888	1218	42	2		2	OBSCN	1	228492063	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	58668531	228492063	20758558	16	47615											
OR2M7	391196	broad.mit.edu	37	chr1	248486965	248486965	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctttcctaagattttCattaatgctctggtcacttc	7	18	5	11	0	3	1	2	0	1	1	5	1	4	1	2	1	2	1	2	1	2	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr1:248486965C>A	ENST00000317965.2	-	1	934	c.906G>T	c.(904-906)atG>atT	p.M302I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.M302I(1)		breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CTAAGATTTTCATTAATGCTC	0.403													A	248486965	C	A	248486965	3	1	549	1	0	0	0	0	1	0	0	0	11090	826	29	4	35	4	OR2M7	1	248486965	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	19994902	248486965	763656	17	47616											
CAD	790	broad.mit.edu	37	chr2	27462334	27462334	+	Frame_Shift_Del	DEL	G	G	-																															gggaggttgcctatatcgatGggcaggtacgcaagtagccc																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:27462334delG	ENST00000264705.4	+	33	5551	c.5389delG	c.(5389-5391)gggfs	p.G1797fs	CAD_ENST00000403525.1_Frame_Shift_Del_p.G1734fs	NM_004341.3	NP_004332.2	P27708	PYR1_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	1797	Linker.				'de novo' pyrimidine base biosynthetic process|drug metabolic process|glutamine metabolic process|peptidyl-threonine phosphorylation|protein autophosphorylation|pyrimidine nucleoside biosynthetic process|pyrimidine nucleotide biosynthetic process	cytosol|neuronal cell body|nuclear matrix|terminal button	aspartate binding|aspartate carbamoyltransferase activity|ATP binding|carbamoyl-phosphate synthase (glutamine-hydrolyzing) activity|dihydroorotase activity|enzyme binding|identical protein binding|metal ion binding|protein kinase activity			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				L-Aspartic Acid(DB00128)|L-Glutamine(DB00130)	CTATATCGATGGGCAGGTACG	0.567													-	27462334	G	-	27462334	7	5	549	1	0	1	0	1	0	0	0	0	2591	1348	47	0	5519	0	CAD	2	27462334	Frame_Shift_Del	DEL	G	TCGA-HT-7688-01A-11D-2253-08		27462334	215737039	18	47617											
ANTXR1	84168	broad.mit.edu	37	chr2	69297779	69297779	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgtctttggatttcagAgaacaaatccgtcaaggcct	12	11	10	8	1	3	2	2	0	1	2	4	4	4	3	2	2	1	0	2	2	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:69297779A>G	ENST00000303714.4	+	4	619	c.297A>G	c.(295-297)agA>agG	p.R99R	ANTXR1_ENST00000409349.3_Splice_Site_p.R99R|ANTXR1_ENST00000409829.3_Splice_Site_p.R99R	NM_032208.2	NP_115584.1	Q9H6X2	ANTR1_HUMAN	anthrax toxin receptor 1	99	VWFA.				actin cytoskeleton reorganization|substrate adhesion-dependent cell spreading	filopodium membrane|integral to membrane|lamellipodium membrane	actin filament binding|collagen binding|metal ion binding|protein binding|transmembrane receptor activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						TGGATTTCAGAGAACAAATCC	0.378									Familial Infantile Hemangioma				G	69297779	A	G	69297779	5	3	549	1	0	0	0	0	0	0	1	0	711	318	11	3	311	3	ANTXR1	2	69297779	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	41835445	69297779	173901594	19	47618											
MXD1	4084	broad.mit.edu	37	chr2	70164431	70164431	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcagcgagagcagcgacAcctgaagaggcagctggaga	12	4	15	10	2	1	4	1	1	0	3	1	7	1	4	1	2	4	4	1	2	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:70164431A>T	ENST00000264444.2	+	5	643	c.383A>T	c.(382-384)cAc>cTc	p.H128L	MXD1_ENST00000540449.1_Missense_Mutation_p.H118L	NM_001202513.1|NM_001202514.1|NM_002357.3	NP_001189442.1|NP_001189443.1|NP_002348.1	Q05195	MAD1_HUMAN	MAX dimerization protein 1	128					cell proliferation|multicellular organismal development	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|upper_aerodigestive_tract(1)	7						GAGCAGCGACACCTGAAGAGG	0.577													T	70164431	A	T	70164431	3	4	549	1	0	0	0	0	1	0	0	0	10075	159	6	5	401	5	MXD1	2	70164431	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	866652	70164431	173034942	20	47619											
EIF2AK3	9451	broad.mit.edu	37	chr2	88913303	88913303	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacatccaaatcccactgcTttttaccatgattttcagga	11	13	4	13	0	1	1	1	1	0	0	3	2	3	2	4	1	2	1	4	1	2	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:88913303T>C	ENST00000303236.3	-	2	678	c.377A>G	c.(376-378)aAg>aGg	p.K126R	EIF2AK3_ENST00000419748.1_5'UTR	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	126					activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						ATCCCACTGCTTTTTACCATG	0.353													C	88913303	T	C	88913303	3	2	549	1	0	0	0	0	1	0	0	0	5037	1609	56	3	3037	3	EIF2AK3	2	88913303	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	18748872	88913303	154286070	21	47620											
PTPN4	5775	broad.mit.edu	37	chr2	120709680	120709680	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgagagacattctggggaActcatgcttctagttcgacc	9	12	11	9	1	3	2	1	1	2	1	4	5	3	3	1	2	2	2	1	2	2	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:120709680A>G	ENST00000263708.2	+	19	2559	c.1788A>G	c.(1786-1788)gaA>gaG	p.E596E	PTPN4_ENST00000544261.1_Silent_p.E229E	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	596						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	ATTCTGGGGAACTCATGCTTC	0.403													G	120709680	A	G	120709680	2	3	549	1	0	0	0	0	0	0	0	1	12878	40	2	3		3	PTPN4	2	120709680	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	31796377	120709680	122489693	22	47621											
TTN	7273	broad.mit.edu	37	chr2	179431332	179431332	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgccatcatagatgggtttAccccaggcaagtgtgattga	10	10	11	10	1	1	3	1	2	0	1	1	3	1	3	4	2	1	2	4	2	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179431332A>G	ENST00000589042.1	-	326	79751	c.79527T>C	c.(79525-79527)ggT>ggC	p.G26509G	TTN_ENST00000342175.6_Silent_p.G17636G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Silent_p.G24868G|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G17569G|TTN_ENST00000460472.2_Silent_p.G17444G|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G23941G|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24868							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGATGGGTTTACCCCAGGCAA	0.433													G	179431332	A	G	179431332	2	3	549	1	0	0	0	0	0	0	0	1	16837	378	14	3		3	TTN	2	179431332	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	58721652	179431332	63768041	23	47622											
TTN	7273	broad.mit.edu	37	chr2	179463964	179463964	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attcggaatacatattcatgGccttctagcaatttgggaat	12	14	8	7	1	2	0	1	0	1	0	3	2	2	2	1	3	2	1	1	3	6	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:179463964G>A	ENST00000589042.1	-	290	56780	c.56556C>T	c.(56554-56556)ggC>ggT	p.G18852G	TTN_ENST00000342175.6_Silent_p.G9979G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Silent_p.G17211G|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.G9912G|TTN_ENST00000460472.2_Silent_p.G9787G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.G16284G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17211	Ig-like 107.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CATATTCATGGCCTTCTAGCA	0.428													A	179463964	G	A	179463964	2	1	549	1	0	0	0	0	0	0	0	1	16837	1190	42	2		2	TTN	2	179463964	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32632	179463964	63735409	24	47623											
TMEFF2	23671	broad.mit.edu	37	chr2	192818453	192818453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tgacagcaatctgaattgttCcaatcacagctgcgattaag	13	11	8	9	1	2	2	1	2	1	0	3	3	3	2	1	0	3	3	1	0	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:192818453C>G	ENST00000392314.1	-	9	1371	c.980G>C	c.(979-981)gGa>gCa	p.G327A	AC098617.1_ENST00000428980.2_RNA|AC098617.1_ENST00000424116.2_RNA|TMEFF2_ENST00000272771.5_Missense_Mutation_p.G327A			Q9UIK5	TEFF2_HUMAN	transmembrane protein with EGF-like and two follistatin-like domains 2	327						extracellular region|integral to membrane				breast(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(12)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27			OV - Ovarian serous cystadenocarcinoma(117;0.0835)			CTGAATTGTTCCAATCACAGC	0.428													G	192818453	C	G	192818453	3	3	549	1	0	0	0	0	1	0	0	0	16114	855	30	4	152	4	TMEFF2	2	192818453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13354489	192818453	50380920	25	47624											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	549	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16294659	209113112	34086261	26	47625											
BTD	686	broad.mit.edu	37	chr3	15686764	15686764	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtgtgggggtcttggCttcgacacctgtggacagga	6	10	17	8	1	2	0	1	0	1	0	3	3	2	2	1	6	0	1	1	6	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:15686764C>A	ENST00000383778.4	+	4	1699	c.1341C>A	c.(1339-1341)ggC>ggA	p.G447G	BTD_ENST00000449107.1_Silent_p.G469G|BTD_ENST00000437172.1_Silent_p.G469G|BTD_ENST00000303498.5_Silent_p.G467G	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	467					central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						GGGGTCTTGGCTTCGACACCT	0.507													A	15686764	C	A	15686764	2	1	549	1	0	0	0	0	0	0	0	1	1560	784	28	4		4	BTD	3	15686764	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08		15686764	182335666	27	47626											
NEK4	6787	broad.mit.edu	37	chr3	52802575	52802575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctgttcagcagctcgccGctctcggctagaggcatttc	5	12	10	14	3	2	1	1	0	1	1	6	1	3	1	2	2	2	6	2	2	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:52802575G>A	ENST00000233027.5	-	2	341	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	NEK4_ENST00000383721.4_Missense_Mutation_p.R47W|NEK4_ENST00000535191.1_Intron	NM_001193533.1|NM_003157.4	NP_001180462.1|NP_003148.2	P51957	NEK4_HUMAN	NIMA-related kinase 4	47	Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(10)	26				BRCA - Breast invasive adenocarcinoma(193;7.44e-05)|Kidney(197;0.000711)|KIRC - Kidney renal clear cell carcinoma(197;0.00086)|OV - Ovarian serous cystadenocarcinoma(275;0.0513)		GCAGCTCGCCGCTCTCGGCTA	0.453													A	52802575	G	A	52802575	3	1	549	1	0	0	0	0	1	0	0	0	10402	1086	38	1	2446	1	NEK4	3	52802575	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	37115811	52802575	145219855	28	47627											
PLXNA1	5361	broad.mit.edu	37	chr3	126748802	126748802	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacctggagagcggcaccaaGctgtggcacctggtgaagaa	11	5	15	10	1	0	3	0	1	0	2	0	5	0	3	3	4	2	3	3	4	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:126748802G>C	ENST00000251772.4	+	27	4956	c.4887G>C	c.(4885-4887)aaG>aaC	p.K1629N	PLXNA1_ENST00000393409.2_Missense_Mutation_p.K1652N			Q9UIW2	PLXA1_HUMAN	plexin A1	1652					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		GCGGCACCAAGCTGTGGCACC	0.657													C	126748802	G	C	126748802	3	2	549	1	0	0	0	0	1	0	0	0	12196	962	34	4	5062	4	PLXNA1	3	126748802	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	73946227	126748802	71273628	29	47628											
TMCC1	23023	broad.mit.edu	37	chr3	129547187	129547187	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgcctccaggatcagggTcctcaaataactgttcactg	10	12	8	11	0	3	0	3	0	0	0	5	1	5	1	3	2	2	1	3	2	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:129547187T>G	ENST00000393238.3	-	3	375	c.35A>C	c.(34-36)gAc>gCc	p.D12A	TMCC1_ENST00000426664.2_Intron	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	12						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						AGGATCAGGGTCCTCAAATAA	0.393													G	129547187	T	G	129547187	3	3	549	1	0	0	0	0	1	0	0	0	16092	1667	58	5	1942	5	TMCC1	3	129547187	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2798385	129547187	68475243	30	47629											
PHC3	80012	broad.mit.edu	37	chr3	169815126	169815126	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagcaagagaagggcctgTccatcaatctcctgtgctct	9	11	9	12	0	4	1	2	0	2	1	6	2	5	1	3	1	2	2	3	1	3	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr3:169815126T>C	ENST00000495893.2	-	15	2911	c.2880A>G	c.(2878-2880)ggA>ggG	p.G960G	PHC3_ENST00000494943.1_Silent_p.G948G	NM_024947.3	NP_079223.3	Q8NDX5	PHC3_HUMAN	polyhomeotic homolog 3 (Drosophila)		SAM.				multicellular organismal development	PcG protein complex	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|upper_aerodigestive_tract(2)	26	all_cancers(22;2.67e-22)|all_epithelial(15;4.73e-27)|all_lung(20;6.31e-17)|Lung NSC(18;2.61e-16)|Ovarian(172;0.000337)|Breast(254;0.169)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.0655)			GAAGGGCCTGTCCATCAATCT	0.448													C	169815126	T	C	169815126	2	2	549	1	0	0	0	0	0	0	0	1	11895	1654	58	3		3	PHC3	3	169815126	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	40267939	169815126	28207304	31	47630											
TMEM175	84286	broad.mit.edu	37	chr4	944293	944293	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcatcgtgacagtggcctggGcagcacacacaaggtggggg	9	6	16	10	1	1	1	1	1	0	0	2	1	1	1	1	5	1	2	1	5	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:944293G>C	ENST00000264771.4	+	4	462	c.277G>C	c.(277-279)Gca>Cca	p.A93P	TMEM175_ENST00000508204.1_Missense_Mutation_p.A11P|TMEM175_ENST00000504180.1_3'UTR|TMEM175_ENST00000515740.1_5'UTR	NM_032326.2	NP_115702.1	Q9BSA9	TM175_HUMAN	transmembrane protein 175	93						integral to membrane				NS(1)|endometrium(1)|large_intestine(2)|lung(6)|pancreas(1)|upper_aerodigestive_tract(3)	14			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			AGTGGCCTGGGCAGCACACAC	0.597													C	944293	G	C	944293	3	2	549	1	0	0	0	0	1	0	0	0	16191	1203	42	4	287	4	TMEM175	4	944293	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		944293	190209983	32	47631											
GBA3	57733	broad.mit.edu	37	chr4	22729254	22729254	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caacaagcaaaaaaggagtcTttggacagtggtgagttatc	15	9	11	6	0	1	1	0	1	1	0	2	3	1	3	0	3	2	2	0	3	6	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:22729254T>C	ENST00000508166.1	+	0	160				GBA3_ENST00000503442.1_RNA|GBA3_ENST00000511446.2_RNA	NM_020973.4	NP_066024.1	Q9H227	GBA3_HUMAN	glucosidase, beta, acid 3 (gene/pseudogene)						glycoside catabolic process|glycosylceramide catabolic process	cytosol	beta-galactosidase activity|beta-glucosidase activity|cation binding|glycosylceramidase activity			breast(1)|kidney(2)|large_intestine(4)|lung(20)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						AAAAGGAGTCTTTGGACAGTG	0.413													C	22729254	T	C	22729254	1	2	549	0	1	0	0	0	0	0	0	0	6322	1624	56	3		3	GBA3	4	22729254	RNA	SNP	T	TCGA-HT-7688-01A-11D-2253-08	21784961	22729254	168425022	33	47632											
CWH43	80157	broad.mit.edu	37	chr4	49000535	49000535	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttccatcttgtttgtggtttCgtggtactggtttgatctgg	3	20	12	6	1	2	1	0	1	2	0	4	1	3	1	1	4	1	4	1	4	1	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:49000535C>G	ENST00000226432.4	+	6	955	c.772C>G	c.(772-774)Cgt>Ggt	p.R258G	CWH43_ENST00000513409.1_Missense_Mutation_p.R231G	NM_025087.2	NP_079363.2	Q9H720	PG2IP_HUMAN	cell wall biogenesis 43 C-terminal homolog (S. cerevisiae)	258					GPI anchor biosynthetic process	integral to membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(26)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43						TTTGTGGTTTCGTGGTACTGG	0.443													G	49000535	C	G	49000535	3	3	549	1	0	0	0	0	1	0	0	0	4106	884	31	4	794	4	CWH43	4	49000535	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	26271281	49000535	142153741	34	47633											
KDR	3791	broad.mit.edu	37	chr4	55981079	55981079	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acataatagactggtaacttTcatcattaatttttgcttca	13	17	4	7	0	3	1	3	0	0	1	3	1	3	1	0	1	2	2	0	1	4	8			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:55981079T>C	ENST00000263923.4	-	5	915	c.620A>G	c.(619-621)gAa>gGa	p.E207G		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	207	Ig-like C2-type 2.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CTGGTAACTTTCATCATTAAT	0.373			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			C	55981079	T	C	55981079	3	2	549	1	0	0	0	0	1	0	0	0	8197	1783	62	3	3554	3	KDR	4	55981079	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	6980544	55981079	135173197	35	47634											
OTUD4	54726	broad.mit.edu	37	chr4	146058891	146058891	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctttgcactctgctatcAacagagttggccccagggct	7	11	11	12	0	3	1	1	0	2	1	3	1	3	1	2	3	3	4	2	3	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr4:146058891A>C	ENST00000454497.2	-	21	2978	c.2841T>G	c.(2839-2841)gtT>gtG	p.V947V	OTUD4_ENST00000455611.2_Intron|OTUD4_ENST00000447906.2_Silent_p.V1012V	NM_001102653.1	NP_001096123.1	Q01804	OTUD4_HUMAN	OTU domain containing 4	1011							protein binding			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33	all_hematologic(180;0.151)					CTCTGCTATCAACAGAGTTGG	0.388													C	146058891	A	C	146058891	2	2	549	1	0	0	0	0	0	0	0	1	11390	117	5	5		5	OTUD4	4	146058891	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	90077812	146058891	45095385	36	47635											
DNAH5	1767	broad.mit.edu	37	chr5	13792273	13792273	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttgtcacagaatctcTcacttcttctgagaaacccc	11	13	4	13	0	5	2	2	1	3	2	6	3	5	2	2	0	1	0	2	0	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:13792273T>C	ENST00000265104.4	-	50	8382	c.8278A>G	c.(8278-8280)Aga>Gga	p.R2760G		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	2760	AAA 3 (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					ACAGAATCTCTCACTTCTTCT	0.423									Kartagener syndrome				C	13792273	T	C	13792273	3	2	549	1	0	0	0	0	1	0	0	0	4643	1559	54	3	5716	3	DNAH5	5	13792273	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		13792273	167122987	37	47636											
PDZD2	23037	broad.mit.edu	37	chr5	32090257	32090257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttctcaagccattttggaCgggagggtcaccccccacac	9	8	10	14	1	2	0	2	0	1	0	3	2	2	2	4	3	1	1	4	3	1	3	rs147353592		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:32090257C>T	ENST00000438447.1	+	20	7091	c.6703C>T	c.(6703-6705)Cgg>Tgg	p.R2235W	PDZD2_ENST00000282493.3_Missense_Mutation_p.R2235W			O15018	PDZD2_HUMAN	PDZ domain containing 2	2235					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		p.R2235W(1)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						CCATTTTGGACGGGAGGGTCA	0.632													T	32090257	C	T	32090257	3	4	549	1	0	0	0	0	1	0	0	0	11777	527	19	1	6777	1	PDZD2	5	32090257	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	18297984	32090257	148825003	38	47637											
BDP1	55814	broad.mit.edu	37	chr5	70806830	70806830	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatctgtgttactgaggaaaAggtggcagaattgaaacaaa	16	9	12	4	0	1	3	0	2	1	1	1	5	1	4	0	3	2	2	0	3	6	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:70806830A>G	ENST00000358731.4	+	17	4174	c.3911A>G	c.(3910-3912)aAg>aGg	p.K1304R	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1304	9 X 55 AA repeats of G-R-R-X-I-S-P-X-E-N- G-X-E-E-V-K-P-X-X-E-M-E-T-D-L-K-X-T-G-R- E-X-X-X-R-E-K-T-X-E-X-X-D-A-X-E-E-I-D-X- D-L-E-E-T.				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		ACTGAGGAAAAGGTGGCAGAA	0.393													G	70806830	A	G	70806830	3	3	549	1	0	0	0	0	1	0	0	0	1400	72	3	3	3977	3	BDP1	5	70806830	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	38716573	70806830	110108430	39	47638											
MAP1B	4131	broad.mit.edu	37	chr5	71493611	71493611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactttggccaagaaaagAaaactgatgatgttgaagcc	17	8	10	6	0	0	6	0	3	0	3	0	6	0	6	2	1	2	1	2	1	7	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:71493611A>G	ENST00000296755.7	+	5	4727	c.4429A>G	c.(4429-4431)Aaa>Gaa	p.K1477E		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1477						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		CCAAGAAAAGAAAACTGATGA	0.403													G	71493611	A	G	71493611	3	3	549	1	0	0	0	0	1	0	0	0	9303	247	9	3	4447	3	MAP1B	5	71493611	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	686781	71493611	109421649	40	47639											
FBN2	2201	broad.mit.edu	37	chr5	127782200	127782203	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															atttctgagtagtttcactcTgtttgtgaccagcagggcat																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:127782200_127782203delTGTT	ENST00000508053.1	-	13	1897_1900	c.923_926delAACA	c.(922-927)aaacagfs	p.KQ308fs	FBN2_ENST00000508989.1_Frame_Shift_Del_p.KQ275fs|FBN2_ENST00000262464.4_Frame_Shift_Del_p.KQ308fs			P35556	FBN2_HUMAN	fibrillin 2	308	EGF-like 4; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AGTTTCACTCTGTTTGTGACCAGC	0.426													-	127782203	TGTT	-	127782200	7	5	549	1	0	1	0	1	0	0	0	0	5752	1580	55	0	8048	0	FBN2	5	127782200	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7688-01A-11D-2253-08	56288589	127782200	53133060	41	47640											
CLK4	57396	broad.mit.edu	37	chr5	178045583	178045583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgatgacttgaacagtGtctattgcgcttccttttag	8	16	9	8	1	1	4	0	4	1	0	2	4	2	4	1	0	2	1	1	0	3	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr5:178045583G>C	ENST00000316308.4	-	3	526	c.358C>G	c.(358-360)Cac>Gac	p.H120D	CLK4_ENST00000522749.1_5'UTR	NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	120						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		CTTGAACAGTGTCTATTGCGC	0.403													C	178045583	G	C	178045583	3	2	549	1	0	0	0	0	1	0	0	0	3570	1377	48	4	1131	4	CLK4	5	178045583	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	50263383	178045583	2869677	42	47641											
FOXQ1	94234	broad.mit.edu	37	chr6	1313391	1313391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatcaacgagtacctcatggGcaagttcccctttttccgcg	8	11	9	13	3	2	0	2	0	0	0	4	2	4	0	4	1	2	3	4	1	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:1313391G>A	ENST00000296839.2	+	1	717	c.452G>A	c.(451-453)gGc>gAc	p.G151D		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	151					DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TACCTCATGGGCAAGTTCCCC	0.652													A	1313391	G	A	1313391	3	1	549	1	0	0	0	0	1	0	0	0	6081	1203	42	2	454	2	FOXQ1	6	1313391	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		1313391	169801676	43	47642											
CAP2	10486	broad.mit.edu	37	chr6	17421817	17421817	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagggactggtggaaagaCtggaacgagctgtcagccgc	10	6	16	9	2	1	1	1	0	0	1	1	5	1	4	1	4	4	2	1	4	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:17421817C>G	ENST00000229922.2	+	2	563	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	CAP2_ENST00000489374.1_Missense_Mutation_p.L11V|CAP2_ENST00000465994.1_Missense_Mutation_p.L11V|CAP2_ENST00000378990.2_Missense_Mutation_p.L11V|CAP2_ENST00000493172.1_Missense_Mutation_p.L11V	NM_006366.2	NP_006357.1	P40123	CAP2_HUMAN	CAP, adenylate cyclase-associated protein, 2 (yeast)	11					activation of adenylate cyclase activity|axon guidance|cytoskeleton organization|establishment or maintenance of cell polarity|signal transduction	plasma membrane	actin binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(4)|urinary_tract(1)	27	Breast(50;0.0333)|Ovarian(93;0.0386)	all_hematologic(90;0.0466)	all cancers(50;0.194)|Epithelial(50;0.227)			GGTGGAAAGACTGGAACGAGC	0.567													G	17421817	C	G	17421817	3	3	549	1	0	0	0	0	1	0	0	0	2646	564	20	4	33	4	CAP2	6	17421817	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	16108426	17421817	153693250	44	47643											
NKAPL	222698	broad.mit.edu	37	chr6	28227547	28227547	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggattggggaattgggagCgcctgaagtgtgggggccgt	7	8	21	5	2	0	1	0	1	0	0	0	5	0	4	2	6	1	0	2	6	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:28227547C>T	ENST00000343684.3	+	1	450	c.398C>T	c.(397-399)gCg>gTg	p.A133V		NM_001007531.1	NP_001007532.1	Q5M9Q1	NKAPL_HUMAN	NFKB activating protein-like	133										breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31						GAATTGGGAGCGCCTGAAGTG	0.537													T	28227547	C	T	28227547	3	4	549	1	0	0	0	0	1	0	0	0	10516	768	27	1	400	1	NKAPL	6	28227547	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	10805730	28227547	142887520	45	47644											
TRIM15	89870	broad.mit.edu	37	chr6	30138337	30138337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaccttgtcaagaagaTccgtgatttccacaggaaaa	13	10	8	10	1	1	4	1	2	0	2	4	5	4	5	4	1	0	0	4	1	4	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:30138337T>C	ENST00000376694.4	+	5	1260	c.791T>C	c.(790-792)aTc>aCc	p.I264T	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	264					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						GTCAAGAAGATCCGTGATTTC	0.483													C	30138337	T	C	30138337	3	2	549	1	0	0	0	0	1	0	0	0	16591	1435	50	3	809	3	TRIM15	6	30138337	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	1910790	30138337	140976730	46	47645											
ZNF76	7629	broad.mit.edu	37	chr6	35255527	35255527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggagagcaccatcctggccGtacagacagaggtgggcttg	9	6	15	11	2	0	3	0	0	0	3	1	4	1	3	3	4	2	3	3	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:35255527G>A	ENST00000373953.3	+	5	603	c.337G>A	c.(337-339)Gta>Ata	p.V113I	ZNF76_ENST00000440666.2_Missense_Mutation_p.V87I|ZNF76_ENST00000339411.5_Missense_Mutation_p.V113I	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	113					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						CATCCTGGCCGTACAGACAGA	0.607													A	35255527	G	A	35255527	3	1	549	1	0	0	0	0	1	0	0	0	18235	1145	40	1	351	1	ZNF76	6	35255527	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	5117190	35255527	135859540	47	47646											
TREML2	79865	broad.mit.edu	37	chr6	41160191	41160191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagtagacttccacataggGctctggtcttccaggtgggt	8	11	12	10	0	2	1	0	0	2	1	4	1	4	1	2	4	0	2	2	4	3	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:41160191G>A	ENST00000483722.1	-	5	1125	c.940C>T	c.(940-942)Ccc>Tcc	p.P314S		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	314					T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					TCCACATAGGGCTCTGGTCTT	0.587													A	41160191	G	A	41160191	3	1	549	1	0	0	0	0	1	0	0	0	16574	1203	42	2	29	2	TREML2	6	41160191	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	5904664	41160191	129954876	48	47647											
DDX43	55510	broad.mit.edu	37	chr6	74124393	74124393	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatacgtacaccgaatagggCgcacgggaagagcagggtaa	15	4	14	8	4	0	1	0	0	0	1	0	3	0	2	1	3	3	4	1	3	7	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:74124393C>T	ENST00000370336.4	+	14	1887	c.1729C>T	c.(1729-1731)Cgc>Tgc	p.R577C	MB21D1_ENST00000370318.1_Intron	NM_018665.2	NP_061135.2	Q9NXZ2	DDX43_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 43	577	Helicase C-terminal.					intracellular	ATP binding|ATP-dependent RNA helicase activity|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	24						CCGAATAGGGCGCACGGGAAG	0.428													T	74124393	C	T	74124393	3	4	549	1	0	0	0	0	1	0	0	0	4397	768	27	1	1783	1	DDX43	6	74124393	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	32964202	74124393	96990674	49	47648											
PRDM1	639	broad.mit.edu	37	chr6	106553291	106553291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gttcctcttgcccccctacgGcatgaattgtaatggcctga	7	12	9	13	1	1	2	0	2	1	0	2	2	2	2	5	2	2	3	5	2	3	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:106553291G>A	ENST00000369096.4	+	5	1490	c.1256G>A	c.(1255-1257)gGc>gAc	p.G419D	PRDM1_ENST00000369089.3_Missense_Mutation_p.G285D|PRDM1_ENST00000369091.2_Missense_Mutation_p.G383D	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	419					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCCCCCTACGGCATGAATTGT	0.587			"D, N, Mis, F, S"		DLBCL								A	106553291	G	A	106553291	3	1	549	1	0	0	0	0	1	0	0	0	12536	1203	42	2	1287	2	PRDM1	6	106553291	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32428898	106553291	64561776	50	47649											
TRDN	10345	broad.mit.edu	37	chr6	123759208	123759209	+	Splice_Site	INS	-	-	T																															aacaaagaaagtgcaataccINSttttttttccacatcaatgg																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:123759208_123759209insT	ENST00000334268.4	-	12	1367_1368	c.1050_1051insA	c.(1048-1053)aaagag>aaaAgag	p.E351fs	TRDN_ENST00000398178.3_Splice_Site_p.E351fs|RP11-532N4.2_ENST00000587106.2_RNA			Q13061	TRDN_HUMAN	triadin	351					muscle contraction	integral to membrane|plasma membrane|sarcoplasmic reticulum membrane	receptor binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	41				GBM - Glioblastoma multiforme(226;0.184)		AGTGCAATACCTTTTTTTTCCA	0.337													T	123759209	-	T	123759208	8	5	549	1	0	1	1	0	0	0	1	0	16569	695	24	0	1258	0	TRDN	6	123759208	Splice_Site	INS	-	TCGA-HT-7688-01A-11D-2253-08	17205917	123759208	47355859	51	47650											
EPB41L2	2037	broad.mit.edu	37	chr6	131229973	131229976	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															atacttacttctcagttgtcTctttatttctttagcaggat																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:131229973_131229976delTCTT	ENST00000337057.3	-	5	1019_1022	c.838_841delAAGA	c.(838-843)aagagafs	p.KR280fs	EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000525271.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000368128.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000530481.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527659.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000528282.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000445890.2_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000527411.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000525193.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000529208.1_Frame_Shift_Del_p.KR280fs|EPB41L2_ENST00000392427.3_Frame_Shift_Del_p.KR280fs	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	280	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		CTCAGTTGTCTCTTTATTTCTTTA	0.284													-	131229976	TCTT	-	131229973	7	5	549	1	0	1	0	1	0	0	0	0	5194	1559	54	0	2236	0	EPB41L2	6	131229973	Frame_Shift_Del	DEL	TCTT	TCGA-HT-7688-01A-11D-2253-08	7470765	131229973	39885094	52	47651											
ARID1B	57492	broad.mit.edu	37	chr6	157522373	157522373	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgccaccgtcactgccaaatCacatctccagggcgcccagc	9	5	8	19	3	3	0	2	0	1	0	4	0	3	0	5	1	2	0	5	1	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr6:157522373C>G	ENST00000346085.5	+	18	4646	c.4645C>G	c.(4645-4647)Cac>Gac	p.H1549D	ARID1B_ENST00000275248.4_Missense_Mutation_p.H1531D|ARID1B_ENST00000367148.1_Missense_Mutation_p.H1589D|ARID1B_ENST00000350026.5_Missense_Mutation_p.H1536D	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1536	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		ACTGCCAAATCACATCTCCAG	0.597													G	157522373	C	G	157522373	3	3	549	1	0	0	0	0	1	0	0	0	917	826	29	4	4715	4	ARID1B	6	157522373	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	26292400	157522373	13592694	53	47652											
IL6	3569	broad.mit.edu	37	chr7	22769188	22769188	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttgaggtatacctagAgtacctccagaacagatttg	12	11	11	7	0	0	4	0	1	0	3	1	5	1	5	3	2	3	3	3	2	5	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:22769188A>T	ENST00000404625.1	+	5	839	c.380A>T	c.(379-381)gAg>gTg	p.E127V	IL6_ENST00000407492.1_Missense_Mutation_p.E51V|IL6_ENST00000420258.2_Missense_Mutation_p.E181V|IL6_ENST00000258743.5_Missense_Mutation_p.E127V|IL6_ENST00000406575.1_Missense_Mutation_p.E127V|IL6_ENST00000401651.1_Missense_Mutation_p.E51V|IL6_ENST00000401630.3_Missense_Mutation_p.E104V			P05231	IL6_HUMAN	interleukin 6 (interferon, beta 2)	127					acute-phase response|cellular response to hydrogen peroxide|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|defense response to virus|endocrine pancreas development|glucagon secretion|hepatic immune response|interleukin-6-mediated signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of chemokine biosynthetic process|negative regulation of collagen biosynthetic process|negative regulation of fat cell differentiation|negative regulation of lipid storage|neuron projection development|neutrophil apoptosis|platelet activation|positive regulation of acute inflammatory response|positive regulation of anti-apoptosis|positive regulation of B cell activation|positive regulation of chemokine production|positive regulation of immunoglobulin secretion|positive regulation of interleukin-6 production|positive regulation of osteoblast differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of smooth muscle cell proliferation|positive regulation of T cell proliferation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of translation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of vascular endothelial growth factor production|response to glucocorticoid stimulus|response to peptidoglycan	extracellular space|interleukin-6 receptor complex	cytokine activity|growth factor activity|interleukin-6 receptor binding			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Arsenic trioxide(DB01169)|Bicalutamide(DB01128)|Ginseng(DB01404)|Simvastatin(DB00641)	GTATACCTAGAGTACCTCCAG	0.458													T	22769188	A	T	22769188	3	4	549	1	0	0	0	0	1	0	0	0	7759	304	11	5	394	5	IL6	7	22769188	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		22769188	136369475	54	47653											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124392	31124392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaggccctctacacggttgGctacagcacatccctcgtca	9	8	9	15	2	2	0	1	0	1	0	4	1	3	0	2	3	3	3	2	3	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:31124392G>C	ENST00000304166.4	+	8	768	c.479G>C	c.(478-480)gGc>gCc	p.G160A	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.G160A|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.G139A|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.G160A	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	160					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						TACACGGTTGGCTACAGCACA	0.562													C	31124392	G	C	31124392	3	2	549	1	0	0	0	0	1	0	0	0	303	1203	42	4	505	4	ADCYAP1R1	7	31124392	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	8355204	31124392	128014271	55	47654											
PURB	5814	broad.mit.edu	37	chr7	44924053	44924053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgactcttcgccgccgcCgctgcccccaccacgtcgct	3	8	8	22	6	2	1	0	1	2	0	4	1	2	1	6	0	1	2	6	0	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:44924053C>T	ENST00000395699.2	-	1	907	c.895G>A	c.(895-897)Ggc>Agc	p.G299S		NM_033224.3	NP_150093.1	Q96QR8	PURB_HUMAN	purine-rich element binding protein B	299					regulation of myeloid cell differentiation	DNA replication factor A complex	mRNA binding|single-stranded DNA binding|transcription factor binding			large_intestine(2)|lung(3)|prostate(1)|skin(1)	7						TCGCCGCCGCCGCTGCCCCCA	0.587													T	44924053	C	T	44924053	3	4	549	1	0	0	0	0	1	0	0	0	12916	652	23	1	47	1	PURB	7	44924053	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	13799661	44924053	114214610	56	47655											
PKD1L1	168507	broad.mit.edu	37	chr7	47920383	47920383	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagtatggcttgattgTcactgtctgttctgtaatac	9	15	10	7	0	3	2	1	1	2	1	3	3	3	2	0	1	1	4	0	1	3	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:47920383T>C	ENST00000289672.2	-	21	3513	c.3463A>G	c.(3463-3465)Aca>Gca	p.T1155A		NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	1155	REJ.				cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GGCTTGATTGTCACTGTCTGT	0.468													C	47920383	T	C	47920383	3	2	549	1	0	0	0	0	1	0	0	0	12041	1667	58	3	5234	3	PKD1L1	7	47920383	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2996330	47920383	111218280	57	47656											
GRB10	2887	broad.mit.edu	37	chr7	50686969	50686969	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggaccaccagctcatggtcTtccaagcacctctctgcagg	8	9	9	15	0	3	0	1	0	2	0	5	1	4	1	4	3	3	3	4	3	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:50686969T>C	ENST00000403097.1	-	8	1437	c.657A>G	c.(655-657)gaA>gaG	p.E219E	GRB10_ENST00000407526.1_Silent_p.E167E|GRB10_ENST00000335866.3_Silent_p.E167E|GRB10_ENST00000398810.2_Silent_p.E167E|GRB10_ENST00000439599.1_Silent_p.E219E|GRB10_ENST00000402578.1_Silent_p.E167E|GRB10_ENST00000406641.1_Silent_p.E167E|GRB10_ENST00000401949.1_Silent_p.E225E|GRB10_ENST00000402497.1_Silent_p.E167E|GRB10_ENST00000357271.5_Silent_p.E225E|GRB10_ENST00000398812.2_Silent_p.E225E			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	225	Ras-associating.				insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					GCTCATGGTCTTCCAAGCACC	0.443									Russell-Silver syndrome				C	50686969	T	C	50686969	2	2	549	1	0	0	0	0	0	0	0	1	6811	1606	56	3		3	GRB10	7	50686969	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2766586	50686969	108451694	58	47657											
TRIM24	8805	broad.mit.edu	37	chr7	138268733	138268733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgatctttcaaaactgtgctGaattcaatgaggtgaggcta	12	13	10	6	0	3	4	2	4	1	0	3	4	3	4	0	2	2	2	0	2	5	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:138268733G>A	ENST00000343526.4	+	18	3147	c.2932G>A	c.(2932-2934)Gaa>Aaa	p.E978K	TRIM24_ENST00000415680.2_Missense_Mutation_p.E944K			O15164	TIF1A_HUMAN	tripartite motif containing 24	978	Bromo.				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAACTGTGCTGAATTCAATGA	0.388													A	138268733	G	A	138268733	3	1	549	1	0	0	0	0	1	0	0	0	16599	1291	45	2	3002	2	TRIM24	7	138268733	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	87581764	138268733	20869930	59	47658											
ARHGEF35	445328	broad.mit.edu	37	chr7	143884337	143884337	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcctgcccccatcccaactCtctggctctttcgcctcctg	4	11	6	20	1	2	0	0	0	2	0	6	0	4	0	6	1	3	1	6	1	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr7:143884337C>T	ENST00000378115.2	-	2	1269	c.1140G>A	c.(1138-1140)gaG>gaA	p.E380E	ARHGEF35_ENST00000543357.1_Silent_p.E380E	NM_001003702.2	NP_001003702.2	A5YM69	ARG35_HUMAN	Rho guanine nucleotide exchange factor (GEF) 35	380	Glu-rich.									kidney(1)|large_intestine(1)|lung(3)|stomach(1)	6						CATCCCAACTCTCTGGCTCTT	0.557													T	143884337	C	T	143884337	2	4	549	1	0	0	0	0	0	0	0	1	908	912	32	2		2	ARHGEF35	7	143884337	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	5615604	143884337	15254326	60	47659											
INTS9	55756	broad.mit.edu	37	chr8	28625815	28625815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	atggcccttggctgtgtcctCcaccttaatatcactgaagc	8	12	8	13	0	1	1	1	1	0	0	3	1	3	1	4	2	1	1	4	2	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:28625815C>G	ENST00000416984.2	-	16	2121	c.1762G>C	c.(1762-1764)Gag>Cag	p.E588Q	INTS9_ENST00000521022.1_Missense_Mutation_p.E609Q|INTS9_ENST00000397363.4_Missense_Mutation_p.E503Q|INTS9_ENST00000521777.1_Missense_Mutation_p.E585Q	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	609					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GCTGTGTCCTCCACCTTAATA	0.502													G	28625815	C	G	28625815	3	3	549	1	0	0	0	0	1	0	0	0	7843	864	30	4	155	4	INTS9	8	28625815	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28625815	117738207	61	47660											
PI15	51050	broad.mit.edu	37	chr8	75737530	75737530	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgcactcctgttctcccttCtctgtgaagcaagtaccgtc	6	13	8	14	1	2	1	0	1	2	0	6	1	3	1	3	0	3	4	3	0	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:75737530C>T	ENST00000260113.2	+	2	225	c.46C>T	c.(46-48)Ctc>Ttc	p.L16F	RP11-758M4.4_ENST00000523860.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.L16F|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	16						extracellular region	peptidase inhibitor activity	p.L16I(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GTTCTCCCTTCTCTGTGAAGC	0.463													T	75737530	C	T	75737530	3	4	549	1	0	0	0	0	1	0	0	0	11945	913	32	2	48	2	PI15	8	75737530	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	47111715	75737530	70626492	62	47661											
TG	7038	broad.mit.edu	37	chr8	133912511	133912511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgccaggctgcaggcatcGggggctggcacctggtgtgt	5	9	17	10	1	0	0	0	0	0	0	1	0	0	0	2	6	2	5	2	6	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr8:133912511G>A	ENST00000220616.4	+	15	3400	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	TG_ENST00000377869.1_Silent_p.S1120S	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1120	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TGCAGGCATCGGGGGCTGGCA	0.622													A	133912511	G	A	133912511	2	1	549	1	0	0	0	0	0	0	0	1	15913	1103	39	1		1	TG	8	133912511	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	58174981	133912511	12451511	63	47662											
IFNA7	3444	broad.mit.edu	37	chr9	21201904	21201904	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgctgaagagattgaaGgtctgctggatcatctcatg	9	13	12	7	0	4	3	2	2	3	1	5	5	4	4	0	2	2	2	0	2	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:21201904G>A	ENST00000239347.3	-	1	300	c.261C>T	c.(259-261)acC>acT	p.T87T		NM_021057.2	NP_066401.2	P01567	IFNA7_HUMAN	interferon, alpha 7	87					blood coagulation|cell-cell signaling|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|interferon-alpha/beta receptor binding			endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(6)	12				GBM - Glioblastoma multiforme(5;4.75e-197)|Lung(24;1.26e-23)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		AGAGATTGAAGGTCTGCTGGA	0.478													A	21201904	G	A	21201904	2	1	549	1	0	0	0	0	0	0	0	1	7600	987	35	2		2	IFNA7	9	21201904	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08		21201904	120011527	64	47663											
FOXD4L5	653427	broad.mit.edu	37	chr9	70177705	70177705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgccgcagaccttggCggtgccctgaacttggtgcc	5	7	15	14	3	0	2	0	1	0	1	0	3	0	2	5	4	3	1	5	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:70177705C>T	ENST00000377420.1	-	1	1110	c.279G>A	c.(277-279)ccG>ccA	p.P93P		NM_001126334.1	NP_001119806.1	Q5VV16	FX4L5_HUMAN	forkhead box D4-like 5	93					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	p.P93P(2)		endometrium(5)|lung(2)	7						CAGACCTTGGCGGTGCCCTGA	0.677													T	70177705	C	T	70177705	2	4	549	1	0	0	0	0	0	0	0	1	6053	755	27	1		1	FOXD4L5	9	70177705	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	48975801	70177705	71035726	65	47664											
RORB	6096	broad.mit.edu	37	chr9	77257632	77257632	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggaatcaaacagataaagCaagaacctatctatgacctc	17	8	6	10	0	2	3	1	1	1	2	3	4	2	4	2	1	3	1	2	1	8	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:77257632C>T	ENST00000376896.3	+	4	1150	c.538C>T	c.(538-540)Caa>Taa	p.Q180*	RORB_ENST00000396204.2_Nonsense_Mutation_p.Q191*	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Hinge (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						ACAGATAAAGCAAGAACCTAT	0.468													T	77257632	C	T	77257632	4	4	549	1	0	0	0	0	0	1	0	0	13620	711	25	2	552	2	RORB	9	77257632	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	7079927	77257632	63955799	66	47665											
PCSK5	5125	broad.mit.edu	37	chr9	78686647	78686647	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgtgttgaaggagtgCgaatgctggacggagatgtc	8	12	15	6	2	1	2	0	1	1	1	2	6	1	4	0	3	2	2	0	3	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78686647C>T	ENST00000545128.1	+	7	1265	c.727C>T	c.(727-729)Cga>Tga	p.R243*	PCSK5_ENST00000376752.4_Nonsense_Mutation_p.R243*|PCSK5_ENST00000376767.3_Nonsense_Mutation_p.R243*	NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	243	Catalytic.				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGAAGGAGTGCGAATGCTGGA	0.512													T	78686647	C	T	78686647	4	4	549	1	0	0	0	0	0	1	0	0	11679	760	27	1	753	1	PCSK5	9	78686647	Nonsense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	1429015	78686647	62526784	67	47666											
PCSK5	5125	broad.mit.edu	37	chr9	78790066	78790066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagctggcttccagtgggAcacaggctaaaaagaggcag	12	6	15	8	0	0	2	0	1	0	1	1	3	1	3	1	4	1	4	1	4	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78790066A>G	ENST00000376767.3	+	14	2433	c.1921A>G	c.(1921-1923)Aca>Gca	p.T641A	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TTCCAGTGGGACACAGGCTAA	0.478													G	78790066	A	G	78790066	3	3	549	1	0	0	0	0	1	0	0	0	11679	290	10	3		3	PCSK5	9	78790066	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	103419	78790066	62423365	68	47667											
PCSK5	5125	broad.mit.edu	37	chr9	78938042	78938042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcttctatgcagactcgCgccactgtgtcccctgccat	5	11	10	15	2	1	1	0	0	1	1	3	1	2	1	4	1	2	2	4	1	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78938042C>T	ENST00000545128.1	+	31	4634	c.4096C>T	c.(4096-4098)Cgc>Tgc	p.R1366C		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	631					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TGCAGACTCGCGCCACTGTGT	0.567													T	78938042	C	T	78938042	3	4	549	1	0	0	0	0	1	0	0	0	11679	783	27	1		1	PCSK5	9	78938042	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	147976	78938042	62275389	69	47668											
PCSK5	5125	broad.mit.edu	37	chr9	78943022	78943022	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgggagctgcatggccaaCgagaagtgctcaccctccga	9	6	13	13	3	1	1	1	0	0	1	2	4	2	2	3	2	4	3	3	2	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:78943022C>T	ENST00000545128.1	+	32	4894	c.4356C>T	c.(4354-4356)aaC>aaT	p.N1452N		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCATGGCCAACGAGAAGTGCT	0.592													T	78943022	C	T	78943022	2	4	549	1	0	0	0	0	0	0	0	1	11679	551	19	1		1	PCSK5	9	78943022	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	4980	78943022	62270409	70	47669											
TNC	3371	broad.mit.edu	37	chr9	117849482	117849482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcctttccagccaggttcGcagacacagccacatccttc	8	8	9	16	1	0	1	0	0	0	1	4	1	2	1	5	2	2	2	5	2	0	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:117849482G>A	ENST00000350763.4	-	3	939	c.528C>T	c.(526-528)tgC>tgT	p.C176C	TNC_ENST00000346706.3_Silent_p.C176C|TNC_ENST00000341037.4_Silent_p.C176C|TNC_ENST00000340094.3_Silent_p.C176C|TNC_ENST00000542877.1_Silent_p.C176C|TNC_ENST00000537320.1_Silent_p.C176C|TNC_ENST00000345230.3_Silent_p.C176C|TNC_ENST00000535648.1_Silent_p.C176C|TNC_ENST00000423613.2_Silent_p.C176C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	176	EGF-like 1; incomplete.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding	p.C176C(1)		NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						AGCCAGGTTCGCAGACACAGC	0.582													A	117849482	G	A	117849482	2	1	549	1	0	0	0	0	0	0	0	1	16370	1079	38	1		1	TNC	9	117849482	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	38906460	117849482	23363949	71	47670											
ASTN2	23245	broad.mit.edu	37	chr9	119413978	119413978	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccacacctgaaatgagctgGtcatctgacagcatctgggc	10	9	10	12	0	3	3	1	3	2	0	4	3	4	3	2	2	2	2	2	2	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:119413978G>A	ENST00000313400.4	-	17	3001	c.2901C>T	c.(2899-2901)gaC>gaT	p.D967D	ASTN2_ENST00000373996.3_Silent_p.D963D|ASTN2_ENST00000341734.4_Silent_p.D19D|ASTN2_ENST00000361209.2_Silent_p.D916D|ASTN2_ENST00000288520.5_Silent_p.D68D|ASTN2_ENST00000361477.3_Silent_p.D19D|ASTN2_ENST00000358637.4_Silent_p.D19D			O75129	ASTN2_HUMAN	astrotactin 2	967						integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAATGAGCTGGTCATCTGACA	0.582													A	119413978	G	A	119413978	2	1	549	1	0	0	0	0	0	0	0	1	1070	1252	44	2		2	ASTN2	9	119413978	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1564496	119413978	21799453	72	47671											
NUP188	23511	broad.mit.edu	37	chr9	131760453	131760453	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatataatgcacctgactgaCtctgtggtgcgtcgccagct	8	11	11	11	2	1	2	0	2	1	0	2	3	1	2	2	1	3	2	2	1	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:131760453C>G	ENST00000372577.2	+	31	3396	c.3375C>G	c.(3373-3375)gaC>gaG	p.D1125E		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1125					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						ACCTGACTGACTCTGTGGTGC	0.463													G	131760453	C	G	131760453	3	3	549	1	0	0	0	0	1	0	0	0	10834	564	20	4	3497	4	NUP188	9	131760453	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	12346475	131760453	9452978	73	47672											
SOHLH1	402381	broad.mit.edu	37	chr9	138589373	138589373	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcccgctggacgctcccGtcccagggtctggcacacct	5	7	12	17	3	1	0	0	0	1	0	4	2	4	1	4	3	0	3	4	3	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr9:138589373G>A	ENST00000298466.5	-	4	506	c.446C>T	c.(445-447)aCg>aTg	p.T149M	SOHLH1_ENST00000425225.1_Missense_Mutation_p.T149M	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	149					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		GGACGCTCCCGTCCCAGGGTC	0.597													A	138589373	G	A	138589373	3	1	549	1	0	0	0	0	1	0	0	0	15017	1145	40	1	778	1	SOHLH1	9	138589373	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6828920	138589373	2624058	74	47673											
MYO3A	53904	broad.mit.edu	37	chr10	26463288	26463288	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttacaagagaaggcagcaGttgaggaaggacaagatgtc	15	6	15	5	0	0	3	0	1	0	2	1	6	0	5	0	4	2	4	0	4	5	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:26463288G>T	ENST00000265944.5	+	30	4261	c.4095G>T	c.(4093-4095)caG>caT	p.Q1365H	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1365	IQ 3.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAGGCAGCAGTTGAGGAAGG	0.438													T	26463288	G	T	26463288	3	4	549	1	0	0	0	0	1	0	0	0	10152	1020	36	4	4205	4	MYO3A	10	26463288	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26463288	109071459	75	47674											
ANKRD30A	91074	broad.mit.edu	37	chr10	37486405	37486405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatgaacaaacattgagaGcaggtacatttttcaatgta	17	11	8	5	0	1	3	1	2	0	2	1	4	1	3	0	1	4	3	0	1	6	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:37486405G>A	ENST00000374660.1	+	35	3001	c.2902G>A	c.(2902-2904)Gca>Aca	p.A968T	ANKRD30A_ENST00000361713.1_Missense_Mutation_p.A849T|ANKRD30A_ENST00000602533.1_Missense_Mutation_p.A849T			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	1010						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						AACATTGAGAGCAGGTACATT	0.328													A	37486405	G	A	37486405	3	1	549	1	0	0	0	0	1	0	0	0	658	971	34	2	2659	2	ANKRD30A	10	37486405	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	11023117	37486405	98048342	76	47675											
NCOA4	8031	broad.mit.edu	37	chr10	51585027	51585029	+	In_Frame_Del	DEL	AAG	AAG	-																															tgaatgaccacttggaggccAagaaaccattgtccaccccc																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:51585027_51585029delAAG	ENST00000452682.1	+	9	1426_1428	c.1174_1176delAAG	c.(1174-1176)aagdel	p.K393del	NCOA4_ENST00000443446.1_In_Frame_Del_p.K377del|NCOA4_ENST00000374087.4_In_Frame_Del_p.K377del|NCOA4_ENST00000344348.6_In_Frame_Del_p.K377del|NCOA4_ENST00000414907.2_In_Frame_Del_p.K211del|NCOA4_ENST00000438493.1_In_Frame_Del_p.K393del|NCOA4_ENST00000430396.2_In_Frame_Del_p.K277del|NCOA4_ENST00000374082.1_In_Frame_Del_p.K377del	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	377					androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						CTTGGAGGCCAAGAAACCATTGT	0.522			T	RET	papillary thyroid								-	51585029	AAG	-	51585027	7	5	549	1	0	1	0	1	0	0	0	0	10307	131	5	0	1204	0	NCOA4	10	51585027	In_Frame_Del	DEL	AAG	TCGA-HT-7688-01A-11D-2253-08	14098622	51585027	83949720	77	47676											
MBL2	4153	broad.mit.edu	37	chr10	54531233	54531233	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccccttttctcccttggTgccatcacgcccatctttgc	3	15	5	18	1	3	0	1	0	2	0	5	0	4	0	5	1	2	0	5	1	0	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:54531233T>C	ENST00000373968.3	-	1	227	c.163A>G	c.(163-165)Acc>Gcc	p.T55A		NM_000242.2	NP_000233.1	P11226	MBL2_HUMAN	mannose-binding lectin (protein C) 2, soluble	55	Collagen-like.				acute-phase response|complement activation, classical pathway|complement activation, lectin pathway|defense response to Gram-positive bacterium|negative regulation of growth of symbiont in host|opsonization|response to oxidative stress	collagen|extracellular space	bacterial cell surface binding|calcium-dependent protein binding|eukaryotic cell surface binding|mannose binding|receptor binding			breast(1)|endometrium(2)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21						TCTCCCTTGGTGCCATCACGC	0.537													C	54531233	T	C	54531233	3	2	549	1	0	0	0	0	1	0	0	0	9425	1696	59	3	599	3	MBL2	10	54531233	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2946206	54531233	81003514	78	47677											
ARID5B	84159	broad.mit.edu	37	chr10	63845531	63845531	+	Frame_Shift_Del	DEL	A	A	-																															tgcctccaatcaaacctcggAaacaggagaacagttcacag																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:63845531delA	ENST00000279873.7	+	9	1680	c.1270delA	c.(1270-1272)aaafs	p.K424fs	ARID5B_ENST00000309334.5_Frame_Shift_Del_p.K181fs	NM_032199.2	NP_115575.1	Q14865	ARI5B_HUMAN	AT rich interactive domain 5B (MRF1-like)	424					liver development|negative regulation of transcription, DNA-dependent|positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent		protein binding|transcription regulatory region DNA binding			NS(1)|breast(2)|endometrium(13)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	Prostate(12;0.016)|all_hematologic(501;0.215)					CAAACCTCGGAAACAGGAGAA	0.358													-	63845531	A	-	63845531	7	5	549	1	0	1	0	1	0	0	0	0	925	247	9	0	1304	0	ARID5B	10	63845531	Frame_Shift_Del	DEL	A	TCGA-HT-7688-01A-11D-2253-08	9314298	63845531	71689216	79	47678											
CYP2C19	1557	broad.mit.edu	37	chr10	96535297	96535297	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagttgagaaaaaccaaggGtgggtgaacatactctctat	14	9	12	6	0	1	2	0	2	1	1	2	4	1	3	1	3	3	1	1	3	6	3	rs77576043		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96535297G>C	ENST00000371321.3	+	3	563		c.e3+1		CYP2C19_ENST00000464755.1_Splice_Site	NM_000769.1	NP_000760	P33261	CP2CJ_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 19						exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding|steroid hydroxylase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	43		Colorectal(252;0.09)		all cancers(201;6.02e-07)|KIRC - Kidney renal clear cell carcinoma(50;0.0672)|Kidney(138;0.0838)	Adinazolam(DB00546)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Amoxicillin(DB01060)|Arformoterol(DB01274)|Bortezomib(DB00188)|Carisoprodol(DB00395)|Chlorzoxazone(DB00356)|Cilostazol(DB01166)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Desipramine(DB01151)|Desloratadine(DB00967)|Diclofenac(DB00586)|Diltiazem(DB00343)|Efavirenz(DB00625)|Esomeprazole(DB00736)|Famotidine(DB00927)|Felbamate(DB00949)|Finasteride(DB01216)|Flunitrazepam(DB01544)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Fosphenytoin(DB01320)|Guanfacine(DB01018)|Imipramine(DB00458)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Loratadine(DB00455)|Melatonin(DB01065)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Moclobemide(DB01171)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Nilutamide(DB00665)|Norgestrel(DB00506)|Omeprazole(DB00338)|Oxcarbazepine(DB00776)|Pantoprazole(DB00213)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Primidone(DB00794)|Progesterone(DB00396)|Proguanil(DB01131)|Promazine(DB00420)|Quinidine(DB00908)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Temazepam(DB00231)|Teniposide(DB00444)|Terfenadine(DB00342)|Thalidomide(DB01041)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tolbutamide(DB01124)|Topiramate(DB00273)|Tranylcypromine(DB00752)|Troglitazone(DB00197)|Troleandomycin(DB01361)|Voriconazole(DB00582)	AAAACCAAGGGTGGGTGAACA	0.498													C	96535297	G	C	96535297	5	2	549	1	0	0	0	0	0	0	1	0	4199	1275	44	4	492	4	CYP2C19	10	96535297	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	32689766	96535297	38999450	80	47679											
CYP2C8	1558	broad.mit.edu	37	chr10	96824603	96824603	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagttttcattgaatcttTtcatcagggtgagaaaattc	12	16	8	5	0	4	3	3	3	1	1	5	4	4	3	0	1	0	1	0	1	4	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:96824603T>A	ENST00000371270.3	-	4	690	c.596A>T	c.(595-597)aAa>aTa	p.K199I	CYP2C8_ENST00000535898.1_Missense_Mutation_p.K97I|CYP2C8_ENST00000539050.1_Missense_Mutation_p.K113I	NM_000770.3|NM_001198853.1|NM_001198855.1	NP_000761.3|NP_001185782.1|NP_001185784.1	P10632	CP2C8_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 8	199					exogenous drug catabolic process|organic acid metabolic process|oxidative demethylation|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|electron carrier activity|heme binding|oxygen binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|skin(3)	21		Colorectal(252;0.0397)		all cancers(201;6.21e-05)	Aminophenazone(DB01424)|Amiodarone(DB01118)|Amodiaquine(DB00613)|Benzphetamine(DB00865)|Carbamazepine(DB00564)|Cerivastatin(DB00439)|Diclofenac(DB00586)|Fluvastatin(DB01095)|Fosphenytoin(DB01320)|Gemfibrozil(DB01241)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lovastatin(DB00227)|Midazolam(DB00683)|Montelukast(DB00471)|Nicardipine(DB00622)|Paclitaxel(DB01229)|Phenytoin(DB00252)|Pioglitazone(DB01132)|Repaglinide(DB00912)|Rifampin(DB01045)|Rosiglitazone(DB00412)|Simvastatin(DB00641)|Sitagliptin(DB01261)|Tolbutamide(DB01124)|Torasemide(DB00214)|Tretinoin(DB00755)|Trimethoprim(DB00440)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zopiclone(DB01198)	ATTGAATCTTTTCATCAGGGT	0.408													A	96824603	T	A	96824603	3	1	549	1	0	0	0	0	1	0	0	0	4200	1841	64	5	900	5	CYP2C8	10	96824603	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	289306	96824603	38710144	81	47680											
MKI67	4288	broad.mit.edu	37	chr10	129923863	129923863	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccaaacaagcaggtgctgagGctcaggggaaagtggggacc	12	4	16	9	0	1	1	1	1	0	0	1	3	1	3	2	6	3	3	2	6	3	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr10:129923863G>C	ENST00000368654.3	-	2	444	c.69C>G	c.(67-69)agC>agG	p.S23R	MKI67_ENST00000368653.3_Missense_Mutation_p.S23R	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	23					cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AGGTGCTGAGGCTCAGGGGAA	0.517													C	129923863	G	C	129923863	3	2	549	1	0	0	0	0	1	0	0	0	9673	1194	42	4	9757	4	MKI67	10	129923863	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	33099260	129923863	5610884	82	47681											
DCHS1	8642	broad.mit.edu	37	chr11	6645159	6645159	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtgactggcacgactgagCtttggggtggctgcccacgg	6	8	16	11	2	0	2	0	2	0	0	0	3	0	2	1	5	2	3	1	5	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645159C>G	ENST00000299441.3	-	21	8159	c.7748G>C	c.(7747-7749)aGc>aCc	p.S2583T		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2583	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGACTGAGCTTTGGGGTGG	0.537													G	6645159	C	G	6645159	3	3	549	1	0	0	0	0	1	0	0	0	4321	797	28	4	2152	4	DCHS1	11	6645159	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		6645159	128361357	83	47682											
DCHS1	8642	broad.mit.edu	37	chr11	6645181	6645181	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggggtggctgcccacggtCagctgcagccactgttagat	6	10	14	11	1	1	1	1	0	0	1	1	1	1	1	2	4	4	4	2	4	1	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:6645181C>G	ENST00000299441.3	-	21	8137	c.7726G>C	c.(7726-7728)Gac>Cac	p.D2576H		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2576	Cadherin 24.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGCCCACGGTCAGCTGCAGCC	0.562													G	6645181	C	G	6645181	3	3	549	1	0	0	0	0	1	0	0	0	4321	826	29	4	2174	4	DCHS1	11	6645181	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	22	6645181	128361335	84	47683											
EXPH5	23086	broad.mit.edu	37	chr11	108381248	108381248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatttcttcacatgctttccGttctcactcaacctgctttc	6	17	4	14	1	4	0	3	0	2	0	7	1	5	0	2	0	3	3	2	0	1	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:108381248G>A	ENST00000265843.4	-	6	5096	c.4986C>T	c.(4984-4986)aaC>aaT	p.N1662N	EXPH5_ENST00000525344.1_Silent_p.N1655N|EXPH5_ENST00000428840.1_Silent_p.N1586N|EXPH5_ENST00000443411.1_Silent_p.N1474N	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1662					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		CATGCTTTCCGTTCTCACTCA	0.473													A	108381248	G	A	108381248	2	1	549	1	0	0	0	0	0	0	0	1	5364	1136	40	1		1	EXPH5	11	108381248	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	101736067	108381248	26625268	85	47684											
SORL1	6653	broad.mit.edu	37	chr11	121429381	121429381	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttctgctgcctatcacctGgtgtctgaggatgtgaagtg	6	13	14	8	0	3	2	1	2	2	0	3	3	3	3	2	3	2	2	2	3	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:121429381G>C	ENST00000260197.7	+	20	2874	c.2745G>C	c.(2743-2745)ctG>ctC	p.L915L		NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	915					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		CCTATCACCTGGTGTCTGAGG	0.532													C	121429381	G	C	121429381	2	2	549	1	0	0	0	0	0	0	0	1	15028	1335	47	4		4	SORL1	11	121429381	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	13048133	121429381	13577135	86	47685											
CDON	50937	broad.mit.edu	37	chr11	125891236	125891237	+	Frame_Shift_Del	DEL	AA	AA	-																															caaaagagaggagttgagagAaagaattgtcagagtcccct																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:125891236_125891237delAA	ENST00000392693.3	-	3	382_383	c.255_256delTT	c.(253-258)ctttctfs	p.S86fs	CDON_ENST00000263577.7_Frame_Shift_Del_p.S86fs	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	86	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		GAGTTGAGAGAAAGAATTGTCA	0.475													-	125891237	AA	-	125891236	7	5	549	1	0	1	0	1	0	0	0	0	3200	246	9	0	3610	0	CDON	11	125891236	Frame_Shift_Del	DEL	AA	TCGA-HT-7688-01A-11D-2253-08	4461855	125891236	9115280	87	47686											
RPUSD4	84881	broad.mit.edu	37	chr11	126075477	126075477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactttcaccattttcccatCgtccatgcggtagctcgggg	6	12	9	14	3	1	0	1	0	0	0	5	0	3	0	3	3	2	2	3	3	1	4	rs143531642		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr11:126075477C>T	ENST00000298317.4	-	5	735	c.682G>A	c.(682-684)Gat>Aat	p.D228N	RPUSD4_ENST00000534393.1_5'UTR|RPUSD4_ENST00000533628.1_Intron	NM_032795.2	NP_116184.2	Q96CM3	RUSD4_HUMAN	RNA pseudouridylate synthase domain containing 4	228					pseudouridine synthesis		protein binding|pseudouridine synthase activity|RNA binding			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(8)|skin(1)	17	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0919)|all_lung(97;0.0994)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0761)		ATTTTCCCATCGTCCATGCGG	0.557													T	126075477	C	T	126075477	3	4	549	1	0	0	0	0	1	0	0	0	13760	884	31	1	463	1	RPUSD4	11	126075477	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	184241	126075477	8931039	88	47687											
ITPR2	3709	broad.mit.edu	37	chr12	26985677	26985677	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgtacagggacacgatgTcccctatgtagaggaagctg	10	7	13	11	3	0	1	0	0	0	1	1	4	1	3	3	2	2	3	3	2	4	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:26985677T>C	ENST00000381340.3	-	1	454	c.38A>G	c.(37-39)gAc>gGc	p.D13G	ITPR2_ENST00000242737.5_Missense_Mutation_p.D13G	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	13					activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)					GGACACGATGTCCCCTATGTA	0.622													C	26985677	T	C	26985677	3	2	549	1	0	0	0	0	1	0	0	0	7979	1667	58	3	8295	3	ITPR2	12	26985677	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		26985677	106866218	89	47688											
C12orf40	283461	broad.mit.edu	37	chr12	40076514	40076514	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcagactacattactgaaaAacactcaatacagcatattt	17	11	4	9	0	2	2	2	1	0	1	2	2	2	2	0	0	5	1	0	0	7	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:40076514A>C	ENST00000324616.5	+	8	942	c.788A>C	c.(787-789)aAa>aCa	p.K263T	C12orf40_ENST00000405531.3_Missense_Mutation_p.K263T|C12orf40_ENST00000398716.1_Missense_Mutation_p.K186T	NM_001031748.2	NP_001026918.2	Q86WS4	CL040_HUMAN	chromosome 12 open reading frame 40	263										breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(6)|prostate(1)|skin(2)	38						ATTACTGAAAAACACTCAATA	0.353													C	40076514	A	C	40076514	3	2	549	1	0	0	0	0	1	0	0	0	1699	14	1	5	818	5	C12orf40	12	40076514	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	13090837	40076514	93775381	90	47689											
HOXC4	3221	broad.mit.edu	37	chr12	54447735	54447735	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagctcgtatttgatggactCtaactacatcgatccgaaat	12	12	8	9	3	1	1	0	1	1	0	4	5	2	2	1	1	3	2	1	1	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54447735C>G	ENST00000430889.2	+	1	75	c.29C>G	c.(28-30)tCt>tGt	p.S10C	HOXC4_ENST00000303406.4_Missense_Mutation_p.S10C|HOXC4_ENST00000609810.1_Missense_Mutation_p.S10C	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	10						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						TTGATGGACTCTAACTACATC	0.423													G	54447735	C	G	54447735	3	3	549	1	0	0	0	0	1	0	0	0	7368	913	32	4	31	4	HOXC4	12	54447735	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	14371221	54447735	79404160	91	47690											
NCKAP1L	3071	broad.mit.edu	37	chr12	54917243	54917243	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaaaccaggaagcagagGcagactcccagaaaaggaga	20	1	12	8	0	0	5	0	0	0	5	1	7	1	6	2	3	2	2	2	3	6	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:54917243G>A	ENST00000293373.6	+	19	2023	c.1944G>A	c.(1942-1944)agG>agA	p.R648R	NCKAP1L_ENST00000545638.2_Silent_p.R598R	NM_005337.4	NP_005328.2	P55160	NCKPL_HUMAN	NCK-associated protein 1-like	648					actin polymerization-dependent cell motility|B cell homeostasis|B cell receptor signaling pathway|cortical actin cytoskeleton organization|erythrocyte development|maintenance of cell polarity|myeloid cell homeostasis|negative regulation of apoptosis|negative regulation of interleukin-17 production|negative regulation of interleukin-6 production|negative regulation of myosin-light-chain-phosphatase activity|neutrophil chemotaxis|positive regulation of actin filament polymerization|positive regulation of B cell differentiation|positive regulation of B cell proliferation|positive regulation of CD4-positive, alpha-beta T cell differentiation|positive regulation of CD8-positive, alpha-beta T cell differentiation|positive regulation of cell adhesion mediated by integrin|positive regulation of erythrocyte differentiation|positive regulation of gamma-delta T cell differentiation|positive regulation of neutrophil chemotaxis|positive regulation of phagocytosis, engulfment|positive regulation of T cell proliferation|protein complex assembly|response to drug|T cell homeostasis	cytosol|integral to plasma membrane|membrane fraction|SCAR complex	protein complex binding|protein kinase activator activity|Rac GTPase activator activity			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(37)|ovary(3)|prostate(3)|skin(3)|stomach(2)	80						GGAAGCAGAGGCAGACTCCCA	0.522													A	54917243	G	A	54917243	2	1	549	1	0	0	0	0	0	0	0	1	10298	1194	42	2		2	NCKAP1L	12	54917243	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	469508	54917243	78934652	92	47691											
PTPRR	5801	broad.mit.edu	37	chr12	71050530	71050532	+	In_Frame_Del	DEL	CTT	CTT	-																															gcttagtgcatccacaactcCttcttctttcagctgttgac																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:71050530_71050532delCTT	ENST00000283228.2	-	13	2284_2286	c.1832_1834delAAG	c.(1831-1836)gaagga>gga	p.E611del	PTPRR_ENST00000378778.1_In_Frame_Del_p.E405del|PTPRR_ENST00000537619.2_5'UTR|PTPRR_ENST00000440835.2_In_Frame_Del_p.E366del|PTPRR_ENST00000342084.4_In_Frame_Del_p.E499del|PTPRR_ENST00000549308.1_In_Frame_Del_p.E366del	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	611	Tyrosine-protein phosphatase.				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		TCCACAACTCCTTCTTCTTTCAG	0.433													-	71050532	CTT	-	71050530	7	5	549	1	0	1	0	1	0	0	0	0	12898	690	24	0	147	0	PTPRR	12	71050530	In_Frame_Del	DEL	CTT	TCGA-HT-7688-01A-11D-2253-08	16133287	71050530	62801365	93	47692											
CLIP1	6249	broad.mit.edu	37	chr12	122773037	122773037	+	Splice_Site	DEL	T	T	-																															caataaacagaaagcttaccTttttttcatttctaacaact																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr12:122773037delT	ENST00000358808.2	-	20	3767	c.3613delA	c.(3613-3615)aga>ga	p.R1205fs	CLIP1_ENST00000361654.4_Splice_Site_p.R1094fs|CLIP1_ENST00000545889.1_Splice_Site_p.R791fs|CLIP1_ENST00000537178.1_Splice_Site_p.R1170fs|CLIP1_ENST00000540338.1_Splice_Site_p.R1216fs|CLIP1_ENST00000302528.7_Splice_Site_p.R1205fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1216					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		AAAGCTTACCTTTTTTTCATT	0.333													-	122773037	T	-	122773037	8	5	549	1	0	1	0	1	0	0	1	0	3563	1623	56	0	694	0	CLIP1	12	122773037	Splice_Site	DEL	T	TCGA-HT-7688-01A-11D-2253-08	51722507	122773037	11078858	94	47693											
RNF6	6049	broad.mit.edu	37	chr13	26788671	26788671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggttcgaatacctgaccGctctaaacgagaaatggttc	13	10	9	9	3	1	2	0	1	1	1	3	4	1	2	2	2	2	3	2	2	6	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:26788671G>A	ENST00000381588.4	-	5	2100	c.1348C>T	c.(1348-1350)Cgg>Tgg	p.R450W	RNF6_ENST00000399762.2_Missense_Mutation_p.R94W|RNF6_ENST00000346166.3_Missense_Mutation_p.R450W|RNF6_ENST00000381570.3_Missense_Mutation_p.R450W|RNF6_ENST00000468480.1_Intron	NM_005977.3	NP_005968.1	Q9Y252	RNF6_HUMAN	ring finger protein (C3H2C3 type) 6	450					negative regulation of axon extension|positive regulation of transcription, DNA-dependent|protein K27-linked ubiquitination|protein K48-linked ubiquitination|protein K6-linked ubiquitination|regulation of androgen receptor signaling pathway|ubiquitin-dependent protein catabolic process	axon|cytoplasm|PML body	androgen receptor binding|ubiquitin-protein ligase activity|zinc ion binding	p.R450W(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(9)|lung(3)|ovary(2)|prostate(2)|skin(2)	23	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.00893)|Epithelial(112;0.0481)|OV - Ovarian serous cystadenocarcinoma(117;0.148)|GBM - Glioblastoma multiforme(144;0.23)|Lung(94;0.245)		ATACCTGACCGCTCTAAACGA	0.438													A	26788671	G	A	26788671	3	1	549	1	0	0	0	0	1	0	0	0	13589	1086	38	1	713	1	RNF6	13	26788671	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		26788671	88381207	95	47694											
CUL4A	8451	broad.mit.edu	37	chr13	113891149	113891149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatataggaaaccactgatTgcttgtgtggagaaacagct	13	12	10	6	0	0	2	0	1	0	1	0	4	0	3	1	2	4	2	1	2	5	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr13:113891149T>C	ENST00000451881.1	+	9	810	c.561T>C	c.(559-561)atT>atC	p.I187I	CUL4A_ENST00000326335.4_Silent_p.I187I|CUL4A_ENST00000375441.3_Silent_p.I187I|CUL4A_ENST00000375440.4_Silent_p.I287I	NM_001278513.1|NM_003589.2	NP_001265442.1|NP_003580.1	Q13619	CUL4A_HUMAN	cullin 4A	287					cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	Cul4A-RING ubiquitin ligase complex	ubiquitin protein ligase binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|skin(1)	17	Lung NSC(43;0.0161)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0482)|all_epithelial(44;0.0148)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.112)			AACCACTGATTGCTTGTGTGG	0.358													C	113891149	T	C	113891149	2	2	549	1	0	0	0	0	0	0	0	1	4090	1800	63	3		3	CUL4A	13	113891149	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	87102478	113891149	1278729	96	47695											
SUPT16H	11198	broad.mit.edu	37	chr14	21838616	21838616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttaatggcttcaatcAttttgtcaaagctactctta	10	19	4	8	0	5	0	3	0	2	0	5	0	5	0	0	1	2	2	0	1	5	8			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21838616A>G	ENST00000216297.2	-	4	700	c.362T>C	c.(361-363)aTg>aCg	p.M121T		NM_007192.3	NP_009123.1	Q9Y5B9	SP16H_HUMAN	suppressor of Ty 16 homolog (S. cerevisiae)	121					DNA repair|DNA replication|nucleosome disassembly|positive regulation of transcription elongation, DNA-dependent|positive regulation of viral transcription|transcription elongation from RNA polymerase II promoter|viral reproduction	chromosome|nucleoplasm	GTP binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(95;0.00115)		Epithelial(56;1.62e-06)|all cancers(55;1.49e-05)	GBM - Glioblastoma multiforme(265;0.0159)		GGCTTCAATCATTTTGTCAAA	0.383													G	21838616	A	G	21838616	3	3	549	1	0	0	0	0	1	0	0	0	15492	217	8	3	2873	3	SUPT16H	14	21838616	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		21838616	85510924	97	47696											
CHD8	57680	broad.mit.edu	37	chr14	21861840	21861840	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcgcatctcatagtcttgTggggttggtcggctcctggc	4	13	13	11	2	2	0	1	0	2	0	6	0	3	0	1	5	0	3	1	5	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:21861840T>G	ENST00000399982.2	-	31	6178	c.6114A>C	c.(6112-6114)ccA>ccC	p.P2038P	CHD8_ENST00000557364.1_Silent_p.P2038P|CHD8_ENST00000430710.3_Silent_p.P1759P	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	2038					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CATAGTCTTGTGGGGTTGGTC	0.547													G	21861840	T	G	21861840	2	3	549	1	0	0	0	0	0	0	0	1	3361	1683	59	5		5	CHD8	14	21861840	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	23224	21861840	85487700	98	47697											
TRIM9	114088	broad.mit.edu	37	chr14	51446210	51446210	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaaaaatgtcaagtttttTctatttaagtcgaggaggac	15	14	8	4	1	2	0	1	0	1	0	3	3	2	2	0	2	0	1	0	2	6	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:51446210T>C	ENST00000298355.3	-	9	3086	c.1965A>G	c.(1963-1965)agA>agG	p.R655R	TRIM9_ENST00000338969.5_Silent_p.R736R	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	655	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					TCAAGTTTTTTCTATTTAAGT	0.453													C	51446210	T	C	51446210	2	2	549	1	0	0	0	0	0	0	0	1	16650	1780	62	3		3	TRIM9	14	51446210	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	29584370	51446210	55903330	99	47698											
C14orf37	145407	broad.mit.edu	37	chr14	58605972	58605974	+	In_Frame_Del	DEL	CCT	CCT	-																															gcatgaacatgtgctatctcCctcctcctttctattttggg																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:58605972_58605974delCCT	ENST00000267485.7	-	2	297_299	c.103_105delAGG	c.(103-105)aggdel	p.R35del	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	35						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GTGCTATCTCCCTCCTCCTTTCT	0.478													-	58605974	CCT	-	58605972	7	5	549	1	0	1	0	1	0	0	0	0	1784	622	22	0	2247	0	C14orf37	14	58605972	In_Frame_Del	DEL	CCT	TCGA-HT-7688-01A-11D-2253-08	7159762	58605972	48743568	100	47699											
PCNX	22990	broad.mit.edu	37	chr14	71492954	71492954	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagttcaaattatatggaAtaactttcaccaatccactg	15	12	4	10	0	2	0	2	0	0	0	3	1	3	1	3	1	1	1	3	1	7	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr14:71492954A>C	ENST00000304743.2	+	14	3750	c.3304A>C	c.(3304-3306)Ata>Cta	p.I1102L	PCNX_ENST00000439984.3_Missense_Mutation_p.I991L|PCNX_ENST00000238570.5_Missense_Mutation_p.I1102L	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	1102						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		ATTATATGGAATAACTTTCAC	0.338													C	71492954	A	C	71492954	3	2	549	1	0	0	0	0	1	0	0	0	11667	101	4	5	3358	5	PCNX	14	71492954	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12886982	71492954	35856586	101	47700											
GATM	2628	broad.mit.edu	37	chr15	45658331	45658331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatgcatgggattgggatcTttaaaggagatgatatgcac	13	12	12	4	0	1	2	0	1	1	1	1	5	1	4	0	3	2	2	0	3	4	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:45658331T>C	ENST00000396659.3	-	6	1230	c.891A>G	c.(889-891)aaA>aaG	p.K297K	GATM_ENST00000558336.1_Silent_p.K297K	NM_001482.2	NP_001473.1	P50440	GATM_HUMAN	glycine amidinotransferase (L-arginine:glycine amidinotransferase)	297					creatine biosynthetic process	mitochondrial inner membrane|mitochondrial intermembrane space	glycine amidinotransferase activity|protein binding			biliary_tract(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	15		all_cancers(109;1.25e-09)|all_epithelial(112;5.56e-08)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;4.87e-16)|GBM - Glioblastoma multiforme(94;1.97e-06)	Creatine(DB00148)|Glycine(DB00145)|L-Ornithine(DB00129)	GATTGGGATCTTTAAAGGAGA	0.428													C	45658331	T	C	45658331	2	2	549	1	0	0	0	0	0	0	0	1	6317	1606	56	3		3	GATM	15	45658331	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08		45658331	56873061	102	47701											
SEMA6D	80031	broad.mit.edu	37	chr15	48052514	48052514	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagattcaaggcaataTccggtttttagaggacgccc	10	11	10	10	2	1	2	1	0	0	2	2	3	2	3	2	3	1	3	2	3	4	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:48052514T>A	ENST00000316364.5	+	3	562	c.123T>A	c.(121-123)taT>taA	p.Y41*	SEMA6D_ENST00000389425.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000354744.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389432.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558816.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000355997.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000558014.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000537942.1_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389428.3_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000358066.4_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000389433.2_Nonsense_Mutation_p.Y41*|SEMA6D_ENST00000536845.2_Nonsense_Mutation_p.Y41*	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	41	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		CAAGGCAATATCCGGTTTTTA	0.418													A	48052514	T	A	48052514	4	1	549	1	0	0	0	0	0	1	0	0	14135	1442	50	5	129	5	SEMA6D	15	48052514	Nonsense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2394183	48052514	54478878	103	47702											
ALDH1A2	8854	broad.mit.edu	37	chr15	58254315	58254315	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccacattccagcttggcGccctcagccacaccactctg	7	8	6	20	1	2	0	1	0	1	0	4	0	4	0	6	1	2	1	6	1	0	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:58254315G>A	ENST00000249750.4	-	10	1913	c.1146C>T	c.(1144-1146)ggC>ggT	p.G382G	ALDH1A2_ENST00000558231.1_Silent_p.G353G|ALDH1A2_ENST00000559517.1_Silent_p.G286G|ALDH1A2_ENST00000537372.1_Silent_p.G361G|ALDH1A2_ENST00000347587.3_Silent_p.G344G	NM_003888.3	NP_003879.2	O94788	AL1A2_HUMAN	aldehyde dehydrogenase 1 family, member A2	382					negative regulation of cell proliferation|neural tube development|response to cytokine stimulus	nucleus	3-chloroallyl aldehyde dehydrogenase activity|retinal binding|retinal dehydrogenase activity			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|prostate(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(80;0.152)|all cancers(107;0.18)	NADH(DB00157)|Tretinoin(DB00755)|Vitamin A(DB00162)	CCAGCTTGGCGCCCTCAGCCA	0.473													A	58254315	G	A	58254315	2	1	549	1	0	0	0	0	0	0	0	1	491	1074	38	1		1	ALDH1A2	15	58254315	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	10201801	58254315	44277077	104	47703											
RASGRF1	5923	broad.mit.edu	37	chr15	79296193	79296193	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttctcaggggtcgtatcGccctcatctggaatcttgtt	5	14	11	11	2	4	0	2	0	3	0	7	1	4	1	1	4	0	3	1	4	2	4	rs111385391	byFrequency	TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:79296193G>A	ENST00000419573.3	-	16	2722	c.2448C>T	c.(2446-2448)ggC>ggT	p.G816G	RASGRF1_ENST00000394745.3_Silent_p.G32G|RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.G800G	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	818					activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GGGTCGTATCGCCCTCATCTG	0.612													A	79296193	G	A	79296193	2	1	549	1	0	0	0	0	0	0	0	1	13160	1074	38	1		1	RASGRF1	15	79296193	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	21041878	79296193	23235199	105	47704											
PDE8A	5151	broad.mit.edu	37	chr15	85619979	85619979	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagggtggatagagaagaGttgtccgtaatgcctttcat	11	12	13	5	1	1	3	1	1	0	2	2	5	2	4	2	2	1	2	2	2	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr15:85619979G>C	ENST00000310298.4	+	6	759	c.507G>C	c.(505-507)gaG>gaC	p.E169D	PDE8A_ENST00000394553.1_Missense_Mutation_p.E169D|PDE8A_ENST00000557957.1_Missense_Mutation_p.E97D|PDE8A_ENST00000339708.5_Missense_Mutation_p.E169D|PDE8A_ENST00000557819.2_3'UTR			O60658	PDE8A_HUMAN	phosphodiesterase 8A	169					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ATAGAGAAGAGTTGTCCGTAA	0.294													C	85619979	G	C	85619979	3	2	549	1	0	0	0	0	1	0	0	0	11729	1020	36	4	525	4	PDE8A	15	85619979	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	6323786	85619979	16911413	106	47705											
ATXN2L	11273	broad.mit.edu	37	chr16	28846954	28846954	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggccctgacaggcacgccgCcctctctgccaccgggacct	5	5	12	19	3	1	1	0	1	1	0	2	2	1	2	6	3	1	1	6	3	0	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:28846954C>G	ENST00000336783.4	+	21	2937	c.2770C>G	c.(2770-2772)Ccc>Gcc	p.P924A	RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P930A|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P924A|ATXN2L_ENST00000395547.2_Missense_Mutation_p.P924A|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P924A|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P924A|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P924A	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	924						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						AGGCACGCCGCCCTCTCTGCC	0.677													G	28846954	C	G	28846954	3	3	549	1	0	0	0	0	1	0	0	0	1217	739	26	4	2852	4	ATXN2L	16	28846954	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		28846954	61507799	107	47706											
ITGAM	3684	broad.mit.edu	37	chr16	31308840	31308840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtctctttcagatcggCgcctacttcggggcctccct	3	13	9	16	3	2	1	1	0	1	1	7	1	4	1	4	3	1	0	4	3	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr16:31308840C>T	ENST00000544665.3	+	13	1433	c.1362C>T	c.(1360-1362)ggC>ggT	p.G454G	ITGAM_ENST00000287497.8_Silent_p.G454G	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	454					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						TTCAGATCGGCGCCTACTTCG	0.582													T	31308840	C	T	31308840	2	4	549	1	0	0	0	0	0	0	0	1	7945	755	27	1		1	ITGAM	16	31308840	Silent	SNP	C	TCGA-HT-7688-01A-11D-2253-08	2461886	31308840	59045913	108	47707											
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000413465.2_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	549	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		7578394	73616816	109	47708											
ALDH3A1	218	broad.mit.edu	37	chr17	19646621	19646621	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaatgacgaggaccacGcccagtggctccgagtggat	9	6	14	12	3	0	1	0	1	0	0	1	5	1	3	4	3	1	1	4	3	1	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:19646621G>A	ENST00000457500.2	-	2	647	c.318C>T	c.(316-318)ggC>ggT	p.G106G	ALDH3A1_ENST00000225740.6_Silent_p.G106G|ALDH3A1_ENST00000395555.3_Silent_p.G106G|ALDH3A1_ENST00000485231.1_5'UTR|ALDH3A1_ENST00000494157.2_Silent_p.G33G|ALDH3A1_ENST00000444455.1_Silent_p.G106G	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	106					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	CGAGGACCACGCCCAGTGGCT	0.627													A	19646621	G	A	19646621	2	1	549	1	0	0	0	0	0	0	0	1	497	1074	38	1		1	ALDH3A1	17	19646621	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	12068227	19646621	61548589	110	47709											
TRAF4	9618	broad.mit.edu	37	chr17	27076467	27076468	+	Frame_Shift_Del	DEL	GA	GA	-																															cgtggcggggctccctggatGagagttctctgggctttggt																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:27076467_27076468delGA	ENST00000262395.5	+	7	1414_1415	c.1285_1286delGA	c.(1285-1287)gagfs	p.E429fs	TRAF4_ENST00000444415.3_Intron|TRAF4_ENST00000262396.6_Splice_Site	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	429	MATH.				apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			CTCCCTGGATGAGAGTTCTCTG	0.554													-	27076468	GA	-	27076467	7	5	549	1	0	1	0	1	0	0	0	0	16544	1291	45	0	1311	0	TRAF4	17	27076467	Frame_Shift_Del	DEL	GA	TCGA-HT-7688-01A-11D-2253-08	7429846	27076467	54118743	111	47710											
CPD	1362	broad.mit.edu	37	chr17	28706125	28706125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggcggaggcgactaccacaActacgagcgcgggcgccgag	10	2	16	13	7	0	0	0	0	0	0	0	4	0	1	2	4	4	0	2	4	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:28706125A>G	ENST00000225719.4	+	1	203	c.127A>G	c.(127-129)Act>Gct	p.T43A		NM_001304.4	NP_001295.2	O75976	CBPD_HUMAN	carboxypeptidase D	43	Carboxypeptidase-like 1.				proteolysis	integral to membrane	metallocarboxypeptidase activity|serine-type carboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(13)|skin(5)|stomach(1)|urinary_tract(1)	36						GACTACCACAACTACGAGCGC	0.706													G	28706125	A	G	28706125	3	3	549	1	0	0	0	0	1	0	0	0	3829	43	2	3	129	3	CPD	17	28706125	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	1629658	28706125	52489085	112	47711											
ZNF207	7756	broad.mit.edu	37	chr17	30696691	30696691	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgtatgggcagggaccGccaatggtgcccccttacca	7	6	11	17	2	0	0	0	0	0	0	0	1	0	1	7	3	2	2	7	3	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:30696691G>A	ENST00000394670.4	+	12	1567	c.1398G>A	c.(1396-1398)ccG>ccA	p.P466P	ZNF207_ENST00000321233.6_Silent_p.P450P|ZNF207_ENST00000341711.6_Silent_p.P367P|ZNF207_ENST00000394673.2_Silent_p.P435P|ZNF207_ENST00000577908.1_Silent_p.P466P|ZNF207_ENST00000342555.6_Silent_p.P469P	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	zinc finger protein 207	450						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			GGCAGGGACCGCCAATGGTGC	0.527													A	30696691	G	A	30696691	2	1	549	1	0	0	0	0	0	0	0	1	17866	1074	38	1		1	ZNF207	17	30696691	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1990566	30696691	50498519	113	47712											
CCR7	1236	broad.mit.edu	37	chr17	38715155	38715155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctcacctggaaaatgAcaaggagagccaccaccagc	16	3	9	13	0	1	3	1	1	0	2	1	5	1	4	5	2	3	0	5	2	4	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:38715155A>G	ENST00000246657.2	-	2	112	c.50T>C	c.(49-51)gTc>gCc	p.V17A	CCR7_ENST00000579344.1_Missense_Mutation_p.V11A	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	17					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				CTGGAAAATGACAAGGAGAGC	0.498													G	38715155	A	G	38715155	3	3	549	1	0	0	0	0	1	0	0	0	2976	275	10	3	1094	3	CCR7	17	38715155	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	8018464	38715155	42480055	114	47713											
KRT33A	3883	broad.mit.edu	37	chr17	39503321	39503321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagatgcccacctgcgtggCgaaccattgctccacttccc	7	10	8	16	2	0	1	0	0	0	1	2	2	2	1	5	1	4	1	5	1	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39503321C>T	ENST00000007735.3	-	4	786	c.742G>A	c.(742-744)Gcc>Acc	p.A248T		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	248	Coil 2.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				ACCTGCGTGGCGAACCATTGC	0.622													T	39503321	C	T	39503321	3	4	549	1	0	0	0	0	1	0	0	0	8527	768	27	1	488	1	KRT33A	17	39503321	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	788166	39503321	41691889	115	47714											
JUP	3728	broad.mit.edu	37	chr17	39779208	39779208	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctaggactcacttggtgCggaagtcatcagcagccaga	11	7	12	11	1	3	1	3	0	0	1	3	3	3	3	1	3	4	2	1	3	2	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:39779208C>T	ENST00000540235.1	-	5	985	c.986G>A	c.(985-987)cGc>cAc	p.R329H	KRT17_ENST00000311208.8_Missense_Mutation_p.R170H			P14923	PLAK_HUMAN	junction plakoglobin	0					adherens junction organization|atrioventricular valve morphogenesis|cell migration|cell morphogenesis|cellular response to indole-3-methanol|cytoskeletal anchoring at plasma membrane|detection of mechanical stimulus|ectoderm development|endothelial cell-cell adhesion|gastrulation|morphogenesis of embryonic epithelium|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of Wnt receptor signaling pathway involved in heart development|nervous system development|oocyte development|positive regulation of protein import into nucleus|positive regulation of sequence-specific DNA binding transcription factor activity|skin development	actin cytoskeleton|Axin-APC-beta-catenin-GSK3B complex|basolateral plasma membrane|catenin complex|desmosome|fascia adherens|gamma-catenin-TCF7L2 complex|internal side of plasma membrane|nucleus|protein-DNA complex|Z disc|zonula adherens	alpha-catenin binding|cadherin binding|protein homodimerization activity|protein kinase binding|protein phosphatase binding|RPTP-like protein binding|specific RNA polymerase II transcription factor activity|transcription coactivator activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)	23		Breast(137;0.000162)	BRCA - Breast invasive adenocarcinoma(4;0.233)	BRCA - Breast invasive adenocarcinoma(366;0.15)		TCACTTGGTGCGGAAGTCATC	0.587													T	39779208	C	T	39779208	3	4	549	1	0	0	0	0	1	0	0	0	8030	768	27	1		1	JUP	17	39779208	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	275887	39779208	41416002	116	47715											
PHB	5245	broad.mit.edu	37	chr17	47486775	47486775	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgatgctggtgaagatgcgaGgaagctggctggcgacaggc	9	6	18	8	3	0	2	0	1	0	1	0	6	0	3	0	5	3	3	0	5	2	0			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:47486775G>A	ENST00000300408.3	-	4	383	c.311C>T	c.(310-312)cCt>cTt	p.P104L	PHB_ENST00000508009.1_5'UTR|RP11-81K2.1_ENST00000576461.1_Intron|PHB_ENST00000511832.1_Missense_Mutation_p.P104L	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	104					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			GAAGATGCGAGGAAGCTGGCT	0.512													A	47486775	G	A	47486775	3	1	549	1	0	0	0	0	1	0	0	0	11891	1000	35	2	523	2	PHB	17	47486775	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	7707567	47486775	33708435	117	47716											
C17orf47	284083	broad.mit.edu	37	chr17	56620229	56620229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccggtgttgtcagctggCtttggggtgtttcaacttca	6	15	12	8	1	3	0	3	0	0	0	4	0	4	0	1	4	2	4	1	4	2	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:56620229C>T	ENST00000321691.3	-	1	1500	c.1319G>A	c.(1318-1320)aGc>aAc	p.S440N	RP11-112H10.4_ENST00000580769.1_RNA|RP11-112H10.4_ENST00000580589.1_RNA|RP11-112H10.4_ENST00000578022.1_RNA	NM_001038704.2	NP_001033793	Q8NEP4	CQ047_HUMAN	chromosome 17 open reading frame 47	440										NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	24	Medulloblastoma(34;0.127)|all_neural(34;0.237)					TGTCAGCTGGCTTTGGGGTGT	0.507													T	56620229	C	T	56620229	3	4	549	1	0	0	0	0	1	0	0	0	1874	797	28	2	401	2	C17orf47	17	56620229	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	9133454	56620229	24574981	118	47717											
ABCA6	23460	broad.mit.edu	37	chr17	67080574	67080574	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcacacaccgcacgtaccTttctcgtgattcctgctgtt	7	13	6	15	3	2	1	1	1	1	0	4	1	3	1	3	0	2	4	3	0	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:67080574T>C	ENST00000284425.2	-	33	4433	c.4259A>G	c.(4258-4260)aAg>aGg	p.K1420R	ABCA6_ENST00000446604.2_5'UTR	NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	1420	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CGCACGTACCTTTCTCGTGAT	0.453													C	67080574	T	C	67080574	5	2	549	1	0	0	0	0	0	0	1	0	36	1623	56	3	622	3	ABCA6	17	67080574	Splice_Site	SNP	T	TCGA-HT-7688-01A-11D-2253-08	10460345	67080574	14114636	119	47718											
SLC26A11	284129	broad.mit.edu	37	chr17	78199637	78199637	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctctgtgtttggacagaAcctgctgggactacagaaca	11	10	10	10	0	1	2	0	0	1	2	2	4	1	4	1	2	4	2	1	2	3	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr17:78199637A>G	ENST00000361193.3	+	6	795	c.515A>G	c.(514-516)aAc>aGc	p.N172S	SLC26A11_ENST00000546047.2_Splice_Site_p.N172S|SLC26A11_ENST00000572725.1_Splice_Site_p.N172S|SLC26A11_ENST00000411502.3_Splice_Site_p.N172S	NM_001166347.1|NM_173626.3	NP_001159819.1|NP_775897.3	Q86WA9	S2611_HUMAN	solute carrier family 26 (anion exchanger), member 11	172						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosomal membrane|plasma membrane	anion:anion antiporter activity|secondary active sulfate transmembrane transporter activity			central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	28	all_neural(118;0.0538)		OV - Ovarian serous cystadenocarcinoma(97;0.0344)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TTTGGACAGAACCTGCTGGGA	0.587													G	78199637	A	G	78199637	5	3	549	1	0	0	0	0	0	0	1	0	14610	57	2	3	529	3	SLC26A11	17	78199637	Splice_Site	SNP	A	TCGA-HT-7688-01A-11D-2253-08	11119063	78199637	2995573	120	47719											
ASXL3	80816	broad.mit.edu	37	chr18	31325552	31325552	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcagaacctatttcatgttGacaagaatggcggcttccac	12	10	9	10	1	1	3	1	1	0	2	2	3	2	3	2	2	2	3	2	2	4	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:31325552G>C	ENST00000269197.5	+	12	5740	c.5740G>C	c.(5740-5742)Gac>Cac	p.D1914H		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1914					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						ATTTCATGTTGACAAGAATGG	0.532													C	31325552	G	C	31325552	3	2	549	1	0	0	0	0	1	0	0	0	1073	1290	45	4	5786	4	ASXL3	18	31325552	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		31325552	46751696	121	47720											
MC4R	4160	broad.mit.edu	37	chr18	58038877	58038877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcatattggcaccttggcGgatggcaccagtgccgggga	7	9	14	11	2	1	0	1	0	0	0	1	2	1	2	3	6	1	2	3	6	1	4			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr18:58038877G>A	ENST00000299766.3	-	1	1124	c.706C>T	c.(706-708)Cgc>Tgc	p.R236C		NM_005912.2	NP_005903.2	P32245	MC4R_HUMAN	melanocortin 4 receptor	236					feeding behavior|G-protein signaling, coupled to cAMP nucleotide second messenger|positive regulation of bone resorption|positive regulation of cAMP biosynthetic process	integral to membrane|plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(5)|liver(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(73;0.0946)				GCACCTTGGCGGATGGCACCA	0.517													A	58038877	G	A	58038877	3	1	549	1	0	0	0	0	1	0	0	0	9441	1116	39	1	296	1	MC4R	18	58038877	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	26713325	58038877	20038371	122	47721											
KRI1	65095	broad.mit.edu	37	chr19	10671046	10671046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcttcctcctcctcatagcGtttgttgaggatgtaatccc	6	15	7	13	1	2	1	1	1	1	0	6	2	6	2	4	1	1	3	4	1	2	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:10671046G>A	ENST00000312962.6	-	9	779	c.760C>T	c.(760-762)Cgc>Tgc	p.R254C	KRI1_ENST00000361821.5_Missense_Mutation_p.R250C	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	254	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			tcctcATAGCGTTTGTTGAGG	0.552													A	10671046	G	A	10671046	3	1	549	1	0	0	0	0	1	0	0	0	8502	1145	40	1	1413	1	KRI1	19	10671046	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08		10671046	48457937	123	47722											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-																															gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								-	11106928	AGA	-	11106926	7	5	549	1	0	1	0	1	0	0	0	0	14864	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7688-01A-11D-2253-08	435880	11106926	48022057	124	47723											
CYP4F22	126410	broad.mit.edu	37	chr19	15651449	15651449	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacggcggcgggcactgcGtcagcagggggccgaggcct	6	3	20	12	5	1	0	1	0	0	0	1	2	1	1	2	7	3	2	2	7	1	0	rs146265982		TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:15651449G>A	ENST00000269703.3	+	8	1059	c.860G>A	c.(859-861)cGt>cAt	p.R287H	CYP4F22_ENST00000601005.2_Missense_Mutation_p.R287H	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CGGGCACTGCGTCAGCAGGGG	0.632													A	15651449	G	A	15651449	3	1	549	1	0	0	0	0	1	0	0	0	4222	1145	40	1	882	1	CYP4F22	19	15651449	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	4544523	15651449	43477534	125	47724											
ISYNA1	51477	broad.mit.edu	37	chr19	18545911	18545911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcatgtggttctgtggcgGgagccccacgcaggccctgg	5	7	17	12	2	1	0	0	0	1	0	1	2	1	1	3	5	2	3	3	5	0	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:18545911G>A	ENST00000338128.8	-	11	1706	c.1489C>T	c.(1489-1491)Ccg>Tcg	p.P497S	ISYNA1_ENST00000545187.1_Missense_Mutation_p.P347S|ISYNA1_ENST00000578963.1_Missense_Mutation_p.P369S|ISYNA1_ENST00000317018.6_Missense_Mutation_p.P295S|ISYNA1_ENST00000457269.4_Missense_Mutation_p.P443S	NM_001170938.1|NM_016368.4	NP_001164409.1|NP_057452.1	Q9NPH2	INO1_HUMAN	inositol-3-phosphate synthase 1						inositol biosynthetic process|phospholipid biosynthetic process	cytoplasm	binding|inositol-3-phosphate synthase activity			breast(1)|endometrium(1)|kidney(2)|lung(4)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	12						TTCTGTGGCGGGAGCCCCACG	0.627													A	18545911	G	A	18545911	3	1	549	1	0	0	0	0	1	0	0	0	7925	1232	43	2	191	2	ISYNA1	19	18545911	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	2894462	18545911	40583072	126	47725											
ZNF599	148103	broad.mit.edu	37	chr19	35250972	35250972	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtatgaagcctcataTgtcgaatgacatcagccata	13	9	7	12	1	2	2	2	2	0	0	3	3	2	2	4	0	2	1	4	0	5	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:35250972T>G	ENST00000329285.8	-	4	1107	c.734A>C	c.(733-735)cAt>cCt	p.H245P		NM_001007248.2	NP_001007249.1	Q96NL3	ZN599_HUMAN	zinc finger protein 599						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|skin(1)	24	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AAGCCTCATATGTCGAATGAC	0.488													G	35250972	T	G	35250972	3	3	549	1	0	0	0	0	1	0	0	0	18130	1464	51	5	1036	5	ZNF599	19	35250972	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	16705061	35250972	23878011	127	47726											
NPHS1	4868	broad.mit.edu	37	chr19	36340183	36340183	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggattaccccctcgggccacGcacggcagctccaagctctg	7	6	11	17	3	1	0	0	0	1	0	3	1	2	1	4	3	3	4	4	3	2	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:36340183G>A	ENST00000378910.5	-	7	794	c.795C>T	c.(793-795)tgC>tgT	p.C265C	NPHS1_ENST00000353632.6_Silent_p.C265C	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	265	Ig-like C2-type 3.		C -> R (in NPHS1).		cell adhesion|excretion|muscle organ development	integral to plasma membrane				NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CTCGGGCCACGCACGGCAGCT	0.657													A	36340183	G	A	36340183	2	1	549	1	0	0	0	0	0	0	0	1	10658	1079	38	1		1	NPHS1	19	36340183	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	1089211	36340183	22788800	128	47727											
SIPA1L3	23094	broad.mit.edu	37	chr19	38643516	38643516	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccctgctatctcttgaTccccacttcagccacgatgg	7	10	6	18	1	2	1	1	1	1	0	4	2	3	1	5	1	2	1	5	1	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:38643516T>C	ENST00000222345.6	+	13	4079	c.3570T>C	c.(3568-3570)gaT>gaC	p.D1190D		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	1190					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TATCTCTTGATCCCCACTTCA	0.617													C	38643516	T	C	38643516	2	2	549	1	0	0	0	0	0	0	0	1	14425	1432	50	3		3	SIPA1L3	19	38643516	Silent	SNP	T	TCGA-HT-7688-01A-11D-2253-08	2303333	38643516	20485467	129	47728											
PSG6	5675	broad.mit.edu	37	chr19	43411958	43411958	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctaacacatccttcttcTccctggggtttaagttgttg	7	15	9	10	0	2	0	0	0	2	0	4	0	3	0	2	3	1	4	2	3	2	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:43411958T>C	ENST00000187910.2	-	4	820	c.755A>G	c.(754-756)gAg>gGg	p.E252G	PSG6_ENST00000292125.2_Missense_Mutation_p.E252G|PSG6_ENST00000402603.4_Intron	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				ATCCTTCTTCTCCCTGGGGTT	0.502													C	43411958	T	C	43411958	3	2	549	1	0	0	0	0	1	0	0	0	12744	1551	54	3	603	3	PSG6	19	43411958	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	4768442	43411958	15717025	130	47729											
PTPRH	5794	broad.mit.edu	37	chr19	55708772	55708772	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcattctggagatctgtgAcctcattgggagctgagaag	9	13	12	7	0	4	3	2	2	2	2	4	6	4	4	1	2	1	1	1	2	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:55708772A>C	ENST00000376350.3	-	9	1725	c.1703T>G	c.(1702-1704)gTc>gGc	p.V568G	PTPRH_ENST00000588559.1_5'UTR|PTPRH_ENST00000263434.5_Missense_Mutation_p.V390G	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	568	Fibronectin type-III 7.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GAGATCTGTGACCTCATTGGG	0.552													C	55708772	A	C	55708772	3	2	549	1	0	0	0	0	1	0	0	0	12891	275	10	5	1692	5	PTPRH	19	55708772	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	12296814	55708772	3420211	131	47730											
ZNF17	7565	broad.mit.edu	37	chr19	57932608	57932608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cactagggaaagaacttacaAatgcagcaaatgtgggaaat	18	7	10	6	0	0	1	0	0	0	1	0	3	0	3	0	2	4	2	0	2	7	2			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr19:57932608A>G	ENST00000307658.7	+	4	2017	c.1754A>G	c.(1753-1755)aAa>aGa	p.K585R	AC004076.7_ENST00000597410.1_Intron|ZNF17_ENST00000601808.1_Missense_Mutation_p.K583R			P17021	ZNF17_HUMAN	zinc finger protein 17	583					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0234)|GBM - Glioblastoma multiforme(193;0.000426)|Lung(386;0.176)		AGAACTTACAAATGCAGCAAA	0.428													G	57932608	A	G	57932608	3	3	549	1	0	0	0	0	1	0	0	0	17844	14	1	3	1758	3	ZNF17	19	57932608	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	2223836	57932608	1196375	132	47731											
TGM6	343641	broad.mit.edu	37	chr20	2411182	2411182	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggctgccatgtgccttgTcaccaaaggagagaagcttc	9	10	12	10	0	1	1	1	0	0	1	2	3	1	2	3	2	3	3	3	2	2	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:2411182T>C	ENST00000202625.2	+	11	1830	c.1769T>C	c.(1768-1770)gTc>gCc	p.V590A	TGM6_ENST00000381423.1_Missense_Mutation_p.V590A	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	590					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	ATGTGCCTTGTCACCAAAGGA	0.458													C	2411182	T	C	2411182	3	2	549	1	0	0	0	0	1	0	0	0	15934	1667	58	3	1811	3	TGM6	20	2411182	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		2411182	60614338	133	47732											
TPX2	22974	broad.mit.edu	37	chr20	30388772	30388772	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taacttttccttactttgcaGgtgcataaggcaaatccaat	12	14	6	9	0	0	0	0	0	0	0	2	0	2	0	2	2	4	3	2	2	5	6			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:30388772G>C	ENST00000340513.4	+	19	2769		c.e19-1		TPX2_ENST00000300403.6_Splice_Site			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated						activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TTACTTTGCAGGTGCATAAGG	0.398													C	30388772	G	C	30388772	5	2	549	1	0	0	0	0	0	0	1	0	16533	1014	35	4	2195	4	TPX2	20	30388772	Splice_Site	SNP	G	TCGA-HT-7688-01A-11D-2253-08	27977590	30388772	32636748	134	47733											
COL20A1	57642	broad.mit.edu	37	chr20	61960983	61960983	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcagccctgggcagcagggGgctagcacccagggcctctg	6	4	17	14	0	1	0	0	0	1	0	1	0	1	0	3	5	3	5	3	5	1	1			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:61960983G>A	ENST00000422202.1	+	34	3935	c.3867G>A	c.(3865-3867)ggG>ggA	p.G1289G	COL20A1_ENST00000496810.1_3'UTR|COL20A1_ENST00000326996.6_Silent_p.G1308G|COL20A1_ENST00000435874.1_Silent_p.G1289G|COL20A1_ENST00000358894.6_Silent_p.G1276G			Q9P218	COKA1_HUMAN	collagen, type XX, alpha 1	1276					cell adhesion	collagen|extracellular space	structural molecule activity			NS(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(21)|ovary(1)|prostate(3)|urinary_tract(2)	36	all_cancers(38;1.39e-10)					GGCAGCAGGGGGCTAGCACCC	0.662													A	61960983	G	A	61960983	2	1	549	1	0	0	0	0	0	0	0	1	3710	1219	43	2		2	COL20A1	20	61960983	Silent	SNP	G	TCGA-HT-7688-01A-11D-2253-08	31572211	61960983	1064537	135	47734											
ZNF512B	57473	broad.mit.edu	37	chr20	62598777	62598777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcggcttttggccgccccTttttcttcccttctgtcttg	0	19	7	15	2	4	0	0	0	4	0	6	0	5	0	4	2	0	1	4	2	0	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr20:62598777T>C	ENST00000450537.1	-	3	281	c.221A>G	c.(220-222)aAg>aGg	p.K74R	ZNF512B_ENST00000217130.3_Missense_Mutation_p.K74R|ZNF512B_ENST00000369888.1_Missense_Mutation_p.K74R			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	74					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TGGCCGCCCCTTTTTCTTCCC	0.632													C	62598777	T	C	62598777	3	2	549	1	0	0	0	0	1	0	0	0	18058	1609	56	3	2517	3	ZNF512B	20	62598777	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08	637794	62598777	426743	136	47735											
OSBP2	23762	broad.mit.edu	37	chr22	31137232	31137232	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acggaggactcttgtggtatCttgctgaccagtggggccag	7	10	15	9	1	2	1	0	1	2	0	2	3	2	3	2	5	1	2	2	5	1	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:31137232C>G	ENST00000332585.6	+	2	833	c.729C>G	c.(727-729)atC>atG	p.I243M	OSBP2_ENST00000407373.1_Missense_Mutation_p.I70M|OSBP2_ENST00000403222.3_Missense_Mutation_p.I78M|OSBP2_ENST00000382310.3_Missense_Mutation_p.I243M|OSBP2_ENST00000446658.2_Missense_Mutation_p.I243M	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	243	PH.				lipid transport	membrane	lipid binding			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						CTTGTGGTATCTTGCTGACCA	0.597													G	31137232	C	G	31137232	3	3	549	1	0	0	0	0	1	0	0	0	11350	903	32	4	735	4	OSBP2	22	31137232	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08		31137232	20167334	137	47736											
APOBEC3F	200316	broad.mit.edu	37	chr22	39439012	39439012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagacccatcctttctcgtCggaataccgtctggctgtgc	7	12	9	13	3	2	1	0	0	2	1	5	2	3	2	3	2	2	1	3	2	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chr22:39439012C>T	ENST00000308521.5	+	2	445	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	APOBEC3F_ENST00000491387.1_3'UTR|APOBEC3F_ENST00000381565.2_Missense_Mutation_p.R30W|APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	30					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCTTTCTCGTCGGAATACCGT	0.488													T	39439012	C	T	39439012	3	4	549	1	0	0	0	0	1	0	0	0	796	875	31	1	94	1	APOBEC3F	22	39439012	Missense_Mutation	SNP	C	TCGA-HT-7688-01A-11D-2253-08	8301780	39439012	11865554	138	47737											
MSL3	10943	broad.mit.edu	37	chrX	11783854	11783854	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcacctggaaaagagtaggTtcattctcgggtgccccagg	9	9	13	10	1	2	1	1	0	1	1	3	2	2	2	3	4	2	3	3	4	3	3			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:11783854T>C	ENST00000337339.2	+	9	1204	c.1177T>C	c.(1177-1179)Ttc>Ctc	p.F393L	MSL3_ENST00000398527.2_Intron|MSL3_ENST00000361672.2_Intron|MSL3_ENST00000380693.3_Intron|MSL3_ENST00000312196.4_Intron|MSL3_ENST00000467141.1_Intron	NM_078628.1	NP_523352.1	Q8N5Y2	MS3L1_HUMAN	male-specific lethal 3 homolog (Drosophila)	0					histone H4-K16 acetylation|multicellular organismal development|transcription from RNA polymerase II promoter	MSL complex	DNA binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|urinary_tract(1)	19						AAAGAGTAGGTTCATTCTCGG	0.587													C	11783854	T	C	11783854	3	2	549	1	0	0	0	0	1	0	0	0	9955	1725	60	3	1211	3	MSL3	23	11783854	Missense_Mutation	SNP	T	TCGA-HT-7688-01A-11D-2253-08		11783854	143486706	139	47738											
ATRX	546	broad.mit.edu	37	chrX	76875860	76875861	+	Splice_Site	DEL	CA	CA	-																															cataatcagagatattaactCacactcaattaggttatttt																										TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:76875860_76875861delCA	ENST00000373344.5	-	20	5487		c.e20+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	GATATTAACTCACACTCAATTA	0.317			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76875861	CA	-	76875860	8	5	549	1	0	1	0	1	0	0	1	0	1213	841	29	0		0	ATRX	23	76875860	Splice_Site	DEL	CA	TCGA-HT-7688-01A-11D-2253-08	65092006	76875860	78394700	140	47739											
LHFPL1	340596	broad.mit.edu	37	chrX	111914407	111914407	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgggatggcattgaagctgGcatagcgcccacattcttcc	8	11	11	11	1	1	1	0	1	1	0	2	2	2	2	2	3	2	3	2	3	2	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:111914407G>C	ENST00000371968.3	-	2	451	c.212C>G	c.(211-213)gCc>gGc	p.A71G	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.A71G	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	71						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						ATTGAAGCTGGCATAGCGCCC	0.592													C	111914407	G	C	111914407	3	2	549	1	0	0	0	0	1	0	0	0	8824	1203	42	4	462	4	LHFPL1	23	111914407	Missense_Mutation	SNP	G	TCGA-HT-7688-01A-11D-2253-08	35038547	111914407	43356153	141	47740											
FRMD7	90167	broad.mit.edu	37	chrX	131212491	131212491	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctacatagctatgtggActtgtcctttcctctgctct	5	16	8	12	0	3	0	0	0	3	0	5	1	5	1	2	2	3	3	2	2	3	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:131212491A>G	ENST00000298542.4	-	12	1729	c.1554T>C	c.(1552-1554)agT>agC	p.S518S	FRMD7_ENST00000370879.1_Silent_p.S398S|FRMD7_ENST00000464296.1_Silent_p.S503S	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	518					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					AGCTATGTGGACTTGTCCTTT	0.493													G	131212491	A	G	131212491	2	3	549	1	0	0	0	0	0	0	0	1	6107	272	10	3		3	FRMD7	23	131212491	Silent	SNP	A	TCGA-HT-7688-01A-11D-2253-08	19298084	131212491	24058069	142	47741											
FMR1NB	158521	broad.mit.edu	37	chrX	147084823	147084823	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgcattggaagctttgctgaAttttttctttccaacaagta	10	16	7	8	1	1	1	0	1	1	0	2	2	2	2	1	1	3	4	1	1	5	7			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrX:147084823A>G	ENST00000370467.3	+	2	454	c.380A>G	c.(379-381)aAt>aGt	p.N127S		NM_152578.2	NP_689791.1	Q8N0W7	FMR1N_HUMAN	fragile X mental retardation 1 neighbor	127	P-type.					integral to membrane		p.F130fs*17(1)		breast(2)|cervix(1)|endometrium(3)|large_intestine(7)|lung(10)|ovary(1)|skin(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					GCTTTGCTGAATTTTTTCTTT	0.373													G	147084823	A	G	147084823	3	3	549	1	0	0	0	0	1	0	0	0	6010	101	4	3	386	3	FMR1NB	23	147084823	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08	15872332	147084823	8185737	143	47742											
UTY	7404	broad.mit.edu	37	chrY	15522901	15522901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacttgtagtctgtgttcActttgaacatgagcccaagt	10	14	9	8	0	2	3	1	2	1	1	2	3	2	3	1	0	2	2	1	0	4	5			TCGA-HT-7688-01A-11D-2253-08	TCGA-HT-7688-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	35602eec-d9a6-4b1f-b4bf-0304d6f0337a	b1e48d0a-6c17-45b0-856c-58b9eba686c8	g.chrY:15522901A>G	ENST00000331397.4	-	6	1534	c.527T>C	c.(526-528)gTg>gCg	p.V176A	UTY_ENST00000540140.1_Missense_Mutation_p.V176A|UTY_ENST00000362096.4_Missense_Mutation_p.V176A|UTY_ENST00000537580.1_Missense_Mutation_p.V176A|UTY_ENST00000329134.5_Missense_Mutation_p.V176A|UTY_ENST00000545955.1_Missense_Mutation_p.V176A|UTY_ENST00000474365.1_5'UTR|UTY_ENST00000382896.4_Missense_Mutation_p.V176A|UTY_ENST00000538878.1_Missense_Mutation_p.V176A|UTY_ENST00000382893.1_Missense_Mutation_p.V176A	NM_001258267.1|NM_007125.4	NP_001245196.1|NP_009056.3	O14607	UTY_HUMAN	ubiquitously transcribed tetratricopeptide repeat containing, Y-linked	176					chromatin modification	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			kidney(1)|lung(6)	7						GTCTGTGTTCACTTTGAACAT	0.413													G	15522901	A	G	15522901	3	3	549	1	0	0	0	0	1	0	0	0	17209	159	6	3	3871	3	UTY	24	15522901	Missense_Mutation	SNP	A	TCGA-HT-7688-01A-11D-2253-08		15522901	43850665	144	47743											
ATAD3C	219293	broad.mit.edu	37	chr1	1386075	1386075	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggccatgtcaaaggaCgccctgaatctggcgcagat	10	7	12	12	2	2	2	1	1	1	1	2	3	2	3	2	3	1	2	2	3	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:1386075C>T	ENST00000378785.2	+	1	1007	c.12C>T	c.(10-12)gaC>gaT	p.D4D		NM_001039211.2	NP_001034300.2	Q5T2N8	ATD3C_HUMAN	ATPase family, AAA domain containing 3C	4							ATP binding|nucleoside-triphosphatase activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|lung(4)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;1.79e-36)|OV - Ovarian serous cystadenocarcinoma(86;3.94e-22)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		TGTCAAAGGACGCCCTGAATC	0.642													T	1386075	C	T	1386075	2	4	550	1	0	0	0	0	0	0	0	1	1080	535	19	1		1	ATAD3C	1	1386075	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08		1386075	247864546	1	47744											
OBSCN	84033	broad.mit.edu	37	chr1	228529180	228529180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtggagggggatgacCgcgccttcgaggtgtggcag	7	6	19	9	3	0	1	0	1	0	0	1	4	0	3	3	6	0	1	3	6	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr1:228529180C>T	ENST00000570156.2	+	85	20844	c.20770C>T	c.(20770-20772)Cgc>Tgc	p.R6924C	OBSCN_ENST00000284548.11_Missense_Mutation_p.R5967C|OBSCN_ENST00000366709.4_Missense_Mutation_p.R3086C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5967C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R3601C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5967					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGGGATGACCGCGCCTTCGA	0.637													T	228529180	C	T	228529180	3	4	550	1	0	0	0	0	1	0	0	0	10888	652	23	1	18189	1	OBSCN	1	228529180	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	227143105	228529180	20721441	2	47745											
EIF2B4	8890	broad.mit.edu	37	chr2	27591981	27591981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcctcctgcttggctcgacGctcagcccgaagttcggcct	4	9	12	16	4	1	0	1	0	0	0	4	2	2	0	4	3	2	4	4	3	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:27591981G>A	ENST00000493344.2	-	3	685	c.373C>T	c.(373-375)Cgt>Tgt	p.R125C	EIF2B4_ENST00000445933.2_Missense_Mutation_p.R103C|EIF2B4_ENST00000347454.4_Missense_Mutation_p.R104C|EIF2B4_ENST00000451130.2_Missense_Mutation_p.R124C			Q9UI10	EI2BD_HUMAN	eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa	104					myelination|negative regulation of translational initiation in response to stress|oligodendrocyte development|ovarian follicle development|response to glucose stimulus|response to heat|response to peptide hormone stimulus	cytosol|eukaryotic translation initiation factor 2B complex	translation initiation factor activity|translation initiation factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(5)|skin(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTCGACGCTCAGCCCGA	0.602													A	27591981	G	A	27591981	3	1	550	1	0	0	0	0	1	0	0	0	5042	1087	38	1	1301	1	EIF2B4	2	27591981	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		27591981	215607392	3	47746											
PROKR1	10887	broad.mit.edu	37	chr2	68873428	68873428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaatgccctgctggccatcGccattgacaggtgagtgcag	8	8	12	13	1	0	2	0	2	0	0	1	2	0	2	4	2	3	2	4	2	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:68873428G>A	ENST00000303786.3	+	2	895	c.475G>A	c.(475-477)Gcc>Acc	p.A159T	PROKR1_ENST00000394342.2_Missense_Mutation_p.A159T			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	159						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						GCTGGCCATCGCCATTGACAG	0.592													A	68873428	G	A	68873428	3	1	550	1	0	0	0	0	1	0	0	0	12638	1087	38	1	477	1	PROKR1	2	68873428	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	41281447	68873428	174325945	4	47747											
TTN	7273	broad.mit.edu	37	chr2	179641277	179641277	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcaagtaatgataccacTgtctctagaatatgcaacgc	13	11	7	10	1	2	2	0	1	2	1	3	2	2	2	1	0	4	3	1	0	7	4	rs150725992	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:179641277T>A	ENST00000589042.1	-	28	5538	c.5314A>T	c.(5314-5316)Agt>Tgt	p.S1772C	TTN_ENST00000359218.5_Missense_Mutation_p.S1726C|TTN_ENST00000460472.2_Missense_Mutation_p.S1726C|TTN_ENST00000342175.6_Missense_Mutation_p.S1726C|TTN_ENST00000591111.1_Missense_Mutation_p.S1772C|TTN_ENST00000342992.6_Missense_Mutation_p.S1772C|TTN_ENST00000360870.5_Missense_Mutation_p.S1772C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1525	Ig-like 8.		S -> G.				ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGATACCACTGTCTCTAGAA	0.428													A	179641277	T	A	179641277	3	1	550	1	0	0	0	0	1	0	0	0	16837	1580	55	5	106014	5	TTN	2	179641277	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	110767849	179641277	63558096	5	47748											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	550	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	29471835	209113112	34086261	6	47749											
MLPH	79083	broad.mit.edu	37	chr2	238449504	238449504	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcccccaggaccctggggaCcccgtccagtacaacaggac	10	3	11	17	1	0	0	0	0	0	0	1	3	1	3	6	4	3	1	6	4	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238449504C>T	ENST00000264605.3	+	11	1644	c.1350C>T	c.(1348-1350)gaC>gaT	p.D450D	MLPH_ENST00000338530.4_Silent_p.D422D|MLPH_ENST00000409373.1_Intron|MLPH_ENST00000445024.2_Silent_p.D450D|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000410032.1_Silent_p.D307D	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	450							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		ACCCTGGGGACCCCGTCCAGT	0.607													T	238449504	C	T	238449504	2	4	550	1	0	0	0	0	0	0	0	1	9708	506	18	2		2	MLPH	2	238449504	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	29336392	238449504	4749869	7	47750											
RAB17	64284	broad.mit.edu	37	chr2	238483770	238483770	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctctgcagtagctcttgGgctgtgaacagcaagaggag	9	10	13	9	0	2	2	0	1	2	1	3	3	2	3	0	2	4	5	0	2	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr2:238483770G>A	ENST00000264601.3	-	6	1160	c.531C>T	c.(529-531)gcC>gcT	p.A177A	RAB17_ENST00000409576.1_Intron|RAB17_ENST00000409822.1_Splice_Site_p.A50A|RAB17_ENST00000538644.1_Splice_Site_p.A50A	NM_022449.3	NP_071894.1	Q9H0T7	RAB17_HUMAN	RAB17, member RAS oncogene family	177					protein transport|small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(1)	4		Renal(207;0.00272)|Breast(86;0.00297)|all_hematologic(139;0.182)|Ovarian(221;0.221)		Epithelial(121;9.36e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.26e-10)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000354)|Lung(119;0.011)|LUSC - Lung squamous cell carcinoma(224;0.026)		GTAGCTCTTGGGCTGTGAACA	0.667													A	238483770	G	A	238483770	5	1	550	1	0	0	0	0	0	0	1	0	12990	1246	43	2	111	2	RAB17	2	238483770	Splice_Site	SNP	G	TCGA-HT-7689-01A-11D-2253-08	34266	238483770	4715603	8	47751											
BSN	8927	broad.mit.edu	37	chr3	49692138	49692138	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagcccttggttatcAacctcaatgcccaggagcat	9	9	9	14	1	2	0	2	0	0	0	2	1	2	1	4	2	5	3	4	2	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:49692138A>T	ENST00000296452.4	+	5	5263	c.5149A>T	c.(5149-5151)Aac>Tac	p.N1717Y		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1717					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTTGGTTATCAACCTCAATGC	0.567													T	49692138	A	T	49692138	3	4	550	1	0	0	0	0	1	0	0	0	1539	130	5	5	5167	5	BSN	3	49692138	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08		49692138	148330292	9	47752											
ITIH4	3700	broad.mit.edu	37	chr3	52850942	52850942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctccttccacttgtacgcaGagcttcttcggttccgagtc	5	14	8	14	3	2	1	0	0	2	1	7	2	4	1	3	1	2	4	3	1	1	6			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:52850942G>A	ENST00000266041.4	-	21	2525	c.2429C>T	c.(2428-2430)tCt>tTt	p.S810F	ITIH4_ENST00000346281.5_Missense_Mutation_p.S794F|ITIH4_ENST00000406595.1_Missense_Mutation_p.S780F|ITIH4_ENST00000485816.1_Missense_Mutation_p.S815F|RP5-966M1.6_ENST00000468472.1_3'UTR	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	810					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		CTTGTACGCAGAGCTTCTTCG	0.577													A	52850942	G	A	52850942	3	1	550	1	0	0	0	0	1	0	0	0	7964	942	33	2	379	2	ITIH4	3	52850942	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	3158804	52850942	145171488	10	47753											
PLXNA1	5361	broad.mit.edu	37	chr3	126708270	126708270	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccggcgagcacttcttCacgtccaagatcgtgcggct	6	8	12	15	6	2	1	1	0	1	1	4	2	3	1	3	2	2	2	3	2	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:126708270C>A	ENST00000393409.2	+	1	834	c.834C>A	c.(832-834)ttC>ttA	p.F278L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.F255L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	278	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		AGCACTTCTTCACGTCCAAGA	0.587													A	126708270	C	A	126708270	3	1	550	1	0	0	0	0	1	0	0	0	12196	825	29	4	836	4	PLXNA1	3	126708270	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	73857328	126708270	71314160	11	47754											
PPP2R3A	5523	broad.mit.edu	37	chr3	135825112	135825112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggaccggtttgccgctgagGagtatgagacgcttgttgca	7	10	16	8	3	0	2	0	2	0	1	0	5	0	4	2	3	2	6	2	3	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:135825112G>A	ENST00000264977.3	+	13	3894	c.3277G>A	c.(3277-3279)Gag>Aag	p.E1093K	PPP2R3A_ENST00000490467.1_Missense_Mutation_p.E357K|PPP2R3A_ENST00000469270.1_3'UTR|PPP2R3A_ENST00000334546.2_Missense_Mutation_p.E472K	NM_001190447.1|NM_002718.4	NP_001177376.1|NP_002709.2	Q06190	P2R3A_HUMAN	protein phosphatase 2, regulatory subunit B'', alpha	1093					protein dephosphorylation	protein phosphatase type 2A complex	calcium ion binding|protein binding|protein phosphatase type 2A regulator activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TGCCGCTGAGGAGTATGAGAC	0.463													A	135825112	G	A	135825112	3	1	550	1	0	0	0	0	1	0	0	0	12470	1175	41	2	3459	2	PPP2R3A	3	135825112	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9116842	135825112	62197318	12	47755											
ATR	545	broad.mit.edu	37	chr3	142224106	142224106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttctaattgcactgactcCggccactccatcaggttcat	8	13	6	14	1	3	1	2	1	1	0	5	1	5	1	3	2	1	2	3	2	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr3:142224106C>T	ENST00000350721.4	-	29	5192	c.5071G>A	c.(5071-5073)Gga>Aga	p.G1691R	ATR_ENST00000383101.3_Missense_Mutation_p.G1627R	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	1691	FAT.				cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCACTGACTCCGGCCACTCCA	0.388								Other conserved DNA damage response genes					T	142224106	C	T	142224106	3	4	550	1	0	0	0	0	1	0	0	0	1209	661	23	1	2939	1	ATR	3	142224106	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	6398994	142224106	55798324	13	47756											
PPP2R2C	5522	broad.mit.edu	37	chr4	6380248	6380248	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaactccggctcgtggctctGgaaagtgctgtacacgtcgt	8	10	12	11	4	1	0	0	0	1	0	4	1	2	1	1	3	3	4	1	3	3	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:6380248G>A	ENST00000335585.5	-	3	243	c.220C>T	c.(220-222)Cag>Tag	p.Q74*	PPP2R2C_ENST00000382599.4_Nonsense_Mutation_p.Q74*|PPP2R2C_ENST00000507294.1_Nonsense_Mutation_p.Q67*|PPP2R2C_ENST00000515571.1_Nonsense_Mutation_p.Q57*|PPP2R2C_ENST00000314348.8_Intron|PPP2R2C_ENST00000506140.1_Nonsense_Mutation_p.Q67*	NM_181876.2	NP_870991.1	Q9Y2T4	2ABG_HUMAN	protein phosphatase 2, regulatory subunit B, gamma	74					signal transduction	protein phosphatase type 2A complex	protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	28						TCGTGGCTCTGGAAAGTGCTG	0.577													A	6380248	G	A	6380248	4	1	550	1	0	0	0	0	0	1	0	0	12468	1357	47	2	1151	2	PPP2R2C	4	6380248	Nonsense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		6380248	184774028	14	47757											
DRD5	1816	broad.mit.edu	37	chr4	9784872	9784872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgtcttccacaaggaaatcGcagctgcctacatccacatg	11	9	7	14	2	1	0	0	0	1	0	5	1	3	1	3	1	3	2	3	1	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:9784872G>A	ENST00000304374.2	+	1	1615	c.1219G>A	c.(1219-1221)Gca>Aca	p.A407T		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	407					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CAAGGAAATCGCAGCTGCCTA	0.582													A	9784872	G	A	9784872	3	1	550	1	0	0	0	0	1	0	0	0	4799	1087	38	1	1221	1	DRD5	4	9784872	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	3404624	9784872	181369404	15	47758											
SPATA18	132671	broad.mit.edu	37	chr4	52927044	52927044	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgggaaaatctgttgacaGcaaggtcccctctctgcagg	9	9	11	12	0	2	1	0	1	2	0	4	2	3	2	3	3	2	3	3	3	3	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:52927044G>A	ENST00000295213.4	+	3	664	c.290G>A	c.(289-291)aGc>aAc	p.S97N	SPATA18_ENST00000506829.1_Intron|SPATA18_ENST00000419395.2_Missense_Mutation_p.S97N	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	97					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			TCTGTTGACAGCAAGGTCCCC	0.478													A	52927044	G	A	52927044	3	1	550	1	0	0	0	0	1	0	0	0	15099	971	34	2	300	2	SPATA18	4	52927044	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	43142172	52927044	138227232	16	47759											
FAT4	79633	broad.mit.edu	37	chr4	126240610	126240610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacctgtgaattctcgatTctttaaagtacaagcttctg	12	14	7	8	1	3	2	0	1	3	1	4	3	3	2	1	0	3	2	1	0	6	6			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:126240610T>C	ENST00000394329.3	+	1	3057	c.3044T>C	c.(3043-3045)tTc>tCc	p.F1015S		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	1015	Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						AATTCTCGATTCTTTAAAGTA	0.388													C	126240610	T	C	126240610	3	2	550	1	0	0	0	0	1	0	0	0	5741	1783	62	3	3046	3	FAT4	4	126240610	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	73313566	126240610	64913666	17	47760											
SH3RF1	57630	broad.mit.edu	37	chr4	170043326	170043326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctcggtcccattccaGcagcagcagcagcggcggtg	6	6	15	14	3	0	0	0	0	0	0	3	0	2	0	3	4	5	4	3	4	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:170043326G>A	ENST00000284637.9	-	7	1612	c.1271C>T	c.(1270-1272)gCt>gTt	p.A424V	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	424	Poly-Ala.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCCATTCCAGCAGCAGCAGC	0.597													A	170043326	G	A	170043326	3	1	550	1	0	0	0	0	1	0	0	0	14352	971	34	2	1419	2	SH3RF1	4	170043326	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	43802716	170043326	21110950	18	47761											
KLKB1	3818	broad.mit.edu	37	chr4	187173298	187173298	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgtgtggagggtcactcatAggacaccagtgggtcctcac	8	9	13	11	0	3	0	3	0	0	0	4	2	4	2	2	4	0	0	2	4	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr4:187173298A>G	ENST00000264690.6	+	11	1459	c.1272A>G	c.(1270-1272)atA>atG	p.I424M	KLKB1_ENST00000513864.1_Missense_Mutation_p.I424M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	424	Peptidase S1.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		GGTCACTCATAGGACACCAGT	0.522													G	187173298	A	G	187173298	3	3	550	1	0	0	0	0	1	0	0	0	8470	410	15	3	1310	3	KLKB1	4	187173298	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	17129972	187173298	3980978	19	47762											
HSD17B4	3295	broad.mit.edu	37	chr5	118829578	118829578	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaatgactcctgaggcaGtcaaggctaactggaagaag	14	6	11	10	0	1	3	1	2	0	1	2	4	2	4	2	3	1	2	2	3	5	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:118829578G>C	ENST00000504811.1	+	12	1064	c.880G>C	c.(880-882)Gtc>Ctc	p.V294L	HSD17B4_ENST00000509514.1_5'UTR|HSD17B4_ENST00000256216.6_Missense_Mutation_p.V269L|HSD17B4_ENST00000513628.1_Missense_Mutation_p.V132L|HSD17B4_ENST00000414835.2_Missense_Mutation_p.V129L|HSD17B4_ENST00000515320.1_Missense_Mutation_p.V251L|HSD17B4_ENST00000510025.1_Missense_Mutation_p.V245L	NM_001199291.1	NP_001186220.1	P51659	DHB4_HUMAN	hydroxysteroid (17-beta) dehydrogenase 4	269	(3R)-hydroxyacyl-CoA dehydrogenase.				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	3-hydroxyacyl-CoA dehydrogenase activity|3alpha,7alpha,12alpha-trihydroxy-5beta-cholest-24-enoyl-CoA hydratase activity|estradiol 17-beta-dehydrogenase activity|isomerase activity|long-chain-enoyl-CoA hydratase activity|protein binding|sterol binding|sterol transporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(2)	25		all_cancers(142;0.0206)|Prostate(80;0.0322)		OV - Ovarian serous cystadenocarcinoma(64;0.000247)|Epithelial(69;0.000849)|all cancers(49;0.0122)	NADH(DB00157)	TCCTGAGGCAGTCAAGGCTAA	0.473													C	118829578	G	C	118829578	3	2	550	1	0	0	0	0	1	0	0	0	7441	1029	36	4	847	4	HSD17B4	5	118829578	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		118829578	62085682	20	47763											
RAPGEF6	51735	broad.mit.edu	37	chr5	130825275	130825275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagtaagtgcaagatgagTattattcctcaaaatttcaa	16	12	6	7	0	2	2	2	1	0	1	3	2	3	2	1	0	1	3	1	0	7	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:130825275T>C	ENST00000509018.1	-	15	2009	c.1804A>G	c.(1804-1806)Act>Gct	p.T602A	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.T602A|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.T602A|RAPGEF6_ENST00000308008.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000512052.1_Missense_Mutation_p.T317A|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.T602A|RAPGEF6_ENST00000510071.1_Missense_Mutation_p.T602A|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.T652A	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	602	PDZ.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GCAAGATGAGTATTATTCCTC	0.269													C	130825275	T	C	130825275	3	2	550	1	0	0	0	0	1	0	0	0	13136	1638	57	3	3543	3	RAPGEF6	5	130825275	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	11995697	130825275	50089985	21	47764											
PCDHA11	56138	broad.mit.edu	37	chr5	140249832	140249832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgtgactcaggtgtcaacGgacaggtgacctgctcgctg	8	8	13	12	3	2	2	2	2	0	0	3	3	2	3	2	3	2	2	2	3	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140249832G>A	ENST00000398640.2	+	1	1144	c.1144G>A	c.(1144-1146)Gga>Aga	p.G382R	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron	NM_018902.3	NP_061725.1														breast(1)|lung(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTGTCAACGGACAGGTGAC	0.602													A	140249832	G	A	140249832	3	1	550	1	0	0	0	0	1	0	0	0	11597	1117	39	1	1146	1	PCDHA11	5	140249832	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9424557	140249832	40665428	22	47765											
PCDHB6	56130	broad.mit.edu	37	chr5	140531706	140531706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgcacaatggcgaggtgcGcaccgccaggctgctgagcg	7	4	17	13	5	0	1	0	1	0	0	0	2	0	1	2	4	3	4	2	4	1	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:140531706G>T	ENST00000231136.1	+	1	1868	c.1868G>T	c.(1867-1869)cGc>cTc	p.R623L	PCDHB6_ENST00000543635.1_Missense_Mutation_p.R487L	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		623	Cadherin 6.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGAGGTGCGCACCGCCAGG	0.687													T	140531706	G	T	140531706	3	4	550	1	0	0	0	0	1	0	0	0	11622	1087	38	4	1870	4	PCDHB6	5	140531706	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	281874	140531706	40383554	23	47766											
FAT2	2196	broad.mit.edu	37	chr5	150924794	150924794	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcctgatcaaactgcaagCttttgtcaagcacttgggtc	10	12	8	11	0	2	1	2	1	0	0	4	1	3	1	1	1	4	3	1	1	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:150924794C>A	ENST00000261800.5	-	9	5906	c.5894G>T	c.(5893-5895)aGc>aTc	p.S1965I		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1965					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AAACTGCAAGCTTTTGTCAAG	0.483													A	150924794	C	A	150924794	3	1	550	1	0	0	0	0	1	0	0	0	5739	797	28	4	7215	4	FAT2	5	150924794	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	10393088	150924794	29990466	24	47767											
TIMD4	91937	broad.mit.edu	37	chr5	156378737	156378737	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcatttgtcgggtggtGgtggggcttgttgttgttgt	1	19	18	3	1	1	0	1	0	0	0	2	0	1	0	0	5	0	5	0	5	0	6			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr5:156378737G>A	ENST00000274532.2	-	3	521	c.465C>T	c.(463-465)acC>acT	p.T155T	TIMD4_ENST00000407087.3_Silent_p.T155T	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	155	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTCGGGTGGTGGTGGGGCTTG	0.532													A	156378737	G	A	156378737	2	1	550	1	0	0	0	0	0	0	0	1	16003	1335	47	2		2	TIMD4	5	156378737	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	5453943	156378737	24536523	25	47768											
ITPR3	3710	broad.mit.edu	37	chr6	33656101	33656101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacggaggaaaccaagcaccGgctcttcaccactactgagc	12	5	10	14	2	2	1	1	1	1	0	2	4	2	3	3	3	4	2	3	3	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:33656101G>A	ENST00000374316.5	+	49	7521	c.6461G>A	c.(6460-6462)cGg>cAg	p.R2154Q	ITPR3_ENST00000605930.1_Missense_Mutation_p.R2154Q			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2154					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						ACCAAGCACCGGCTCTTCACC	0.597													A	33656101	G	A	33656101	3	1	550	1	0	0	0	0	1	0	0	0	7980	1116	39	1	6651	1	ITPR3	6	33656101	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		33656101	137458966	26	47769											
SLC17A5	26503	broad.mit.edu	37	chr6	74354177	74354177	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcagaatgctctggacacgCcttggaagttctattatctt	10	13	9	9	1	3	1	0	0	3	1	3	3	3	3	1	2	2	3	1	2	4	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:74354177C>A	ENST00000355773.5	-	2	512	c.244G>T	c.(244-246)Gcg>Tcg	p.A82S	SLC17A5_ENST00000393019.3_Missense_Mutation_p.A82S|SLC17A5_ENST00000481996.1_5'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	82					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TCTGGACACGCCTTGGAAGTT	0.348													A	74354177	C	A	74354177	3	1	550	1	0	0	0	0	1	0	0	0	14514	739	26	4	1283	4	SLC17A5	6	74354177	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	40698076	74354177	96760890	27	47770											
ENPP3	5169	broad.mit.edu	37	chr6	131996232	131996232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcttacagatgtggctgacaGcaatgtatcaaggtttaaaa	14	12	9	6	0	2	2	1	1	1	1	2	2	2	2	0	2	2	4	0	2	6	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:131996232G>A	ENST00000414305.1	+	10	1103	c.775G>A	c.(775-777)Gca>Aca	p.A259T	ENPP3_ENST00000543135.1_Missense_Mutation_p.A225T|ENPP3_ENST00000358229.5_Missense_Mutation_p.A259T|ENPP3_ENST00000427148.2_3'UTR|ENPP3_ENST00000357639.3_Missense_Mutation_p.A259T			O14638	ENPP3_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 3	259	Phosphodiesterase.				immune response|nucleoside triphosphate catabolic process|phosphate metabolic process	extracellular region|integral to plasma membrane|perinuclear region of cytoplasm	metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|scavenger receptor activity			NS(1)|breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	53	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0252)|OV - Ovarian serous cystadenocarcinoma(155;0.0511)		GTGGCTGACAGCAATGTATCA	0.388													A	131996232	G	A	131996232	3	1	550	1	0	0	0	0	1	0	0	0	5172	971	34	2	809	2	ENPP3	6	131996232	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	57642055	131996232	39118835	28	47771											
REPS1	85021	broad.mit.edu	37	chr6	139266690	139266690	+	Frame_Shift_Del	DEL	T	T	-																															tatcatggcttacggatcccTttttcacttgccccctgcca																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:139266690delT	ENST00000450536.2	-	3	996	c.422delA	c.(421-423)aagfs	p.K141fs	REPS1_ENST00000258062.5_Frame_Shift_Del_p.K141fs|REPS1_ENST00000367663.4_Frame_Shift_Del_p.K141fs|REPS1_ENST00000415951.2_Frame_Shift_Del_p.K141fs|REPS1_ENST00000409812.2_Frame_Shift_Del_p.K141fs			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	141						coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TACGGATCCCTTTTTCACTTG	0.478													-	139266690	T	-	139266690	7	5	550	1	0	1	0	1	0	0	0	0	13316	1609	56	0	2040	0	REPS1	6	139266690	Frame_Shift_Del	DEL	T	TCGA-HT-7689-01A-11D-2253-08	7270458	139266690	31848377	29	47772											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000540980.1_Silent_p.Q53Q|TBP_ENST00000230354.6_Silent_p.Q73Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													A	170871043	G	A	170871043	2	1	550	1	0	0	0	0	0	0	0	1	15744	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	31604353	170871043	244024	30	47773											
SFRP4	6424	broad.mit.edu	37	chr7	37955897	37955897	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccagggtgcaaatgggcgcGtacatggcacagaggaagaa	13	5	15	8	2	0	2	0	0	0	2	1	3	1	3	1	4	2	3	1	4	4	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:37955897G>A	ENST00000436072.2	-	1	620	c.243C>T	c.(241-243)taC>taT	p.Y81Y	EPDR1_ENST00000476620.1_Intron	NM_003014.3	NP_003005.2	Q6FHJ7	SFRP4_HUMAN	secreted frizzled-related protein 4	81	FZ.				brain development|cell differentiation|decidualization|embryo development|epithelium development|gonad development|mammary gland involution|menstrual cycle phase|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell proliferation|negative regulation of JNK cascade|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of sodium-dependent phosphate transport|phosphate ion homeostasis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epidermal cell differentiation|positive regulation of gene expression|positive regulation of receptor internalization|vasculature development|Wnt receptor signaling pathway	cell surface|cytoplasm|extracellular space|nucleus	PDZ domain binding|Wnt receptor activity|Wnt-protein binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(13)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						AAATGGGCGCGTACATGGCAC	0.622													A	37955897	G	A	37955897	2	1	550	1	0	0	0	0	0	0	0	1	14256	1140	40	1		1	SFRP4	7	37955897	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		37955897	121182766	31	47774											
ABCA13	154664	broad.mit.edu	37	chr7	48313892	48313892	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctaatcagtttcaaaatatTtggcttcatttaataacact	14	16	3	8	0	3	0	3	0	0	0	3	0	3	0	1	1	1	2	1	1	6	8			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:48313892T>G	ENST00000435803.1	+	17	4653	c.4629T>G	c.(4627-4629)atT>atG	p.I1543M		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1543					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTCAAAATATTTGGCTTCATT	0.299													G	48313892	T	G	48313892	3	3	550	1	0	0	0	0	1	0	0	0	31	1829	64	5	4524	5	ABCA13	7	48313892	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	10357995	48313892	110824771	32	47775											
PTPRZ1	5803	broad.mit.edu	37	chr7	121679632	121679635	+	Frame_Shift_Del	DEL	AAAT	AAAT	-																															ttttactctaagaaacacaaAaataaaaaaggtgagtcaac																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr7:121679632_121679635delAAAT	ENST00000393386.2	+	20	6038_6041	c.5627_5630delAAAT	c.(5626-5631)aaaatafs	p.KI1876fs	PTPRZ1_ENST00000449182.1_Frame_Shift_Del_p.KI1009fs	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1876	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						AGAAACACAAAAATAAAAAAGGTG	0.382													-	121679635	AAAT	-	121679632	7	5	550	1	0	1	0	1	0	0	0	0	12902	14	1	0	5705	0	PTPRZ1	7	121679632	Frame_Shift_Del	DEL	AAAT	TCGA-HT-7689-01A-11D-2253-08	73365740	121679632	37459031	33	47776											
ANK1	286	broad.mit.edu	37	chr8	41552258	41552258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatgatcacgaagtacagcGggaagtcggtggtgatgatt	12	9	14	6	3	1	3	1	3	0	0	2	5	1	4	0	3	2	1	0	3	3	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr8:41552258G>A	ENST00000396942.1	-	28	3262	c.3179C>T	c.(3178-3180)cCg>cTg	p.P1060L	ANK1_ENST00000265709.8_Missense_Mutation_p.P1101L|ANK1_ENST00000379758.2_Missense_Mutation_p.P1060L|ANK1_ENST00000289734.7_Missense_Mutation_p.P1060L|ANK1_ENST00000347528.4_Missense_Mutation_p.P1060L|ANK1_ENST00000352337.4_Missense_Mutation_p.P1060L|ANK1_ENST00000396945.1_Missense_Mutation_p.P1060L			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1060					axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GAAGTACAGCGGGAAGTCGGT	0.602													A	41552258	G	A	41552258	3	1	550	1	0	0	0	0	1	0	0	0	620	1116	39	1	2852	1	ANK1	8	41552258	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08		41552258	104811764	34	47777											
ZNF484	83744	broad.mit.edu	37	chr9	95610656	95610656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgttaatgaagacaacaCgacttaaaggtttgttctgg	12	14	9	6	1	2	2	0	1	2	1	2	3	2	2	0	2	1	3	0	2	5	5	rs139334933		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:95610656C>T	ENST00000395505.2	-	3	397	c.305G>A	c.(304-306)cGt>cAt	p.R102H	ZNF484_ENST00000395506.3_Missense_Mutation_p.R140H|ZNF484_ENST00000332591.6_Missense_Mutation_p.R102H|ZNF484_ENST00000375495.3_Missense_Mutation_p.R138H|ANKRD19P_ENST00000473204.1_RNA	NM_001261459.1|NM_001261460.1	NP_001248388.1|NP_001248389.1	Q5JVG2	ZN484_HUMAN	zinc finger protein 484	138					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|kidney(8)|large_intestine(10)|lung(10)|prostate(2)	33						GAAGACAACACGACTTAAAGG	0.368													T	95610656	C	T	95610656	3	4	550	1	0	0	0	0	1	0	0	0	18038	536	19	1	2149	1	ZNF484	9	95610656	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		95610656	45602775	35	47778											
LAMC3	10319	broad.mit.edu	37	chr9	133932363	133932363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatccgcccggccagggCtttccccgccagcctcctgg	4	7	10	20	3	1	0	1	0	0	0	4	0	4	0	8	3	1	1	8	3	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr9:133932363C>T	ENST00000361069.4	+	12	2120	c.1987C>T	c.(1987-1989)Ctt>Ttt	p.L663F	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	663	Laminin IV type A.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCGGCCAGGGCTTTCCCCGCC	0.607													T	133932363	C	T	133932363	3	4	550	1	0	0	0	0	1	0	0	0	8675	797	28	2	2033	2	LAMC3	9	133932363	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	38321707	133932363	7281068	36	47779											
NRAP	4892	broad.mit.edu	37	chr10	115380449	115380449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcctttcatccacttcaCatctgccctgtattggttct	6	16	5	14	0	4	0	2	0	2	0	5	0	5	0	3	1	2	2	3	1	1	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:115380449C>T	ENST00000369358.4	-	25	3056	c.2812G>A	c.(2812-2814)Gtg>Atg	p.V938M	NRAP_ENST00000369360.3_Missense_Mutation_p.V903M|NRAP_ENST00000359988.3_Missense_Mutation_p.V930M|NRAP_ENST00000360478.3_Missense_Mutation_p.V895M			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	930						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		ATCCACTTCACATCTGCCCTG	0.478													T	115380449	C	T	115380449	3	4	550	1	0	0	0	0	1	0	0	0	10714	478	17	2	2476	2	NRAP	10	115380449	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		115380449	20154298	37	47780											
DMBT1	1755	broad.mit.edu	37	chr10	124389482	124389482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagtgaattctggttatcGcataaacctgggcttcagta	12	12	10	7	1	2	2	1	1	1	1	3	2	2	2	1	2	1	4	1	2	6	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr10:124389482G>A	ENST00000368909.3	+	44	5514	c.5408G>A	c.(5407-5409)cGc>cAc	p.R1803H	DMBT1_ENST00000359586.6_Missense_Mutation_p.R523H|DMBT1_ENST00000330163.4_Missense_Mutation_p.R1175H|DMBT1_ENST00000368955.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000344338.3_Missense_Mutation_p.R1793H|DMBT1_ENST00000338354.3_Missense_Mutation_p.R1803H|DMBT1_ENST00000368956.2_Missense_Mutation_p.R1175H	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	1803	CUB 1.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TCTGGTTATCGCATAAACCTG	0.473													A	124389482	G	A	124389482	3	1	550	1	0	0	0	0	1	0	0	0	4616	1087	38	1	5582	1	DMBT1	10	124389482	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	9009033	124389482	11145265	38	47781											
OR4A16	81327	broad.mit.edu	37	chr11	55110739	55110740	+	Frame_Shift_Ins	INS	-	-	A																															tcactcaagatcctgatgtgINSaaaaaaacattatttgtcat																								rs77509752		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:55110739_55110740insA	ENST00000314721.2	+	1	113_114	c.63_64insA	c.(64-66)aaafs	p.K22fs		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	22					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V21V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						ATCCTGATGTGAAAAAAACATT	0.416													A	55110740	-	A	55110739	7	5	550	1	0	1	1	0	0	0	0	0	11117	1277	45	0	65	0	OR4A16	11	55110739	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08		55110739	79895777	39	47782											
MPEG1	219972	broad.mit.edu	37	chr11	58979065	58979065	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtaaccctcctcgtggAtctgggataacaggtgcacc	8	10	12	11	1	1	0	0	0	1	0	3	2	2	2	3	4	3	3	3	4	2	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:58979065A>G	ENST00000361050.3	-	1	1359	c.1274T>C	c.(1273-1275)aTc>aCc	p.I425T		NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	425						integral to membrane				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				CTCCTCGTGGATCTGGGATAA	0.537													G	58979065	A	G	58979065	3	3	550	1	0	0	0	0	1	0	0	0	9799	333	12	3	880	3	MPEG1	11	58979065	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	3868326	58979065	76027451	40	47783											
AHNAK	79026	broad.mit.edu	37	chr11	62290017	62290017	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagacgtcaaggtcagcctTgggcaggttcacatccactt	9	10	11	11	1	3	1	3	1	0	1	4	2	4	1	2	3	1	2	2	3	1	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:62290017T>C	ENST00000378024.4	-	5	12146	c.11872A>G	c.(11872-11874)Aag>Gag	p.K3958E	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	3958					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				AGGTCAGCCTTGGGCAGGTTC	0.498													C	62290017	T	C	62290017	3	2	550	1	0	0	0	0	1	0	0	0	414	1821	63	3	5920	3	AHNAK	11	62290017	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	3310952	62290017	72716499	41	47784											
SHANK2	22941	broad.mit.edu	37	chr11	70333471	70333471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcctctcttgttgcggaagTtggcttgcgggccggcattc	3	12	15	11	3	1	0	0	0	1	0	3	1	1	1	2	5	2	4	2	5	1	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:70333471T>C	ENST00000338508.4	-	32	2929	c.2930A>G	c.(2929-2931)aAc>aGc	p.N977S	SHANK2_ENST00000449833.2_Missense_Mutation_p.N381S|SHANK2_ENST00000409161.1_Missense_Mutation_p.N380S|SHANK2_ENST00000423696.2_Missense_Mutation_p.N597S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	597					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GTTGCGGAAGTTGGCTTGCGG	0.592													C	70333471	T	C	70333471	3	2	550	1	0	0	0	0	1	0	0	0	14359	1725	60	3	2630	3	SHANK2	11	70333471	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	8043454	70333471	64673045	42	47785											
NUMA1	4926	broad.mit.edu	37	chr11	71726290	71726290	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttcttccagctcctttcgTtcccgcttatgctgctccac	3	16	5	17	2	2	0	0	0	2	0	7	0	6	0	4	0	3	5	4	0	1	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:71726290T>C	ENST00000393695.3	-	15	2590	c.2259A>G	c.(2257-2259)gaA>gaG	p.E753E	RP11-849H4.4_ENST00000502284.1_RNA|NUMA1_ENST00000351960.6_Intron|NUMA1_ENST00000358965.6_Silent_p.E753E	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	753					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						GCTCCTTTCGTTCCCGCTTAT	0.612			T	RARA	APL								C	71726290	T	C	71726290	2	2	550	1	0	0	0	0	0	0	0	1	10826	1722	60	3		3	NUMA1	11	71726290	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08	1392819	71726290	63280226	43	47786											
EXPH5	23086	broad.mit.edu	37	chr11	108380864	108380864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaactctttgaacgatagagGtgtggctcaggttcccactc	10	11	10	10	1	2	2	1	1	1	1	4	3	3	2	1	3	2	2	1	3	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:108380864G>T	ENST00000265843.4	-	6	5480	c.5370C>A	c.(5368-5370)caC>caA	p.H1790Q	EXPH5_ENST00000428840.1_Missense_Mutation_p.H1714Q|EXPH5_ENST00000525344.1_Missense_Mutation_p.H1783Q|EXPH5_ENST00000443411.1_Missense_Mutation_p.H1602Q	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1790					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AACGATAGAGGTGTGGCTCAG	0.463													T	108380864	G	T	108380864	3	4	550	1	0	0	0	0	1	0	0	0	5364	1252	44	4	603	4	EXPH5	11	108380864	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	36654574	108380864	26625652	44	47787											
ARHGEF12	23365	broad.mit.edu	37	chr11	120355176	120355176	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaaagttacaccattctttgCcaaaggctggctggatcagc	11	10	10	10	0	2	0	1	0	1	0	2	2	2	1	2	3	3	3	2	3	3	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr11:120355176C>T	ENST00000397843.2	+	40	4750	c.4584C>T	c.(4582-4584)tgC>tgT	p.C1528C	ARHGEF12_ENST00000356641.3_Silent_p.C1509C|ARHGEF12_ENST00000532993.1_Silent_p.C1425C	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1528					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CCATTCTTTGCCAAAGGCTGG	0.378			T	MLL	AML								T	120355176	C	T	120355176	2	4	550	1	0	0	0	0	0	0	0	1	900	747	26	2		2	ARHGEF12	11	120355176	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	11974312	120355176	14651340	45	47788											
PYROXD1	79912	broad.mit.edu	37	chr12	21615672	21615672	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcttatgaggaatgttgtttAgtttgatctaggagaagatg	11	15	13	2	0	1	4	0	2	1	2	1	6	1	5	0	2	0	4	0	2	5	6			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:21615672A>G	ENST00000538582.1	+	10	1533		c.e10-1		PYROXD1_ENST00000240651.9_Splice_Site			Q8WU10	PYRD1_HUMAN	pyridine nucleotide-disulphide oxidoreductase domain 1								oxidoreductase activity			endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|skin(2)|soft_tissue(1)	18						AATGTTGTTTAGTTTGATCTA	0.373													G	21615672	A	G	21615672	5	3	550	1	0	0	0	0	0	0	1	0	12954	434	15	3	1030	3	PYROXD1	12	21615672	Splice_Site	SNP	A	TCGA-HT-7689-01A-11D-2253-08		21615672	112236223	46	47789											
KIF21A	55605	broad.mit.edu	37	chr12	39761740	39761740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagtataaattcctccaGttgaatcttcatgaattctt	12	15	4	10	0	3	2	1	2	2	0	5	2	5	2	3	0	0	2	3	0	5	7			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:39761740G>C	ENST00000395670.3	-	4	964	c.545C>G	c.(544-546)aCt>aGt	p.T182S	KIF21A_ENST00000361961.3_Missense_Mutation_p.T182S|KIF21A_ENST00000541463.2_Missense_Mutation_p.T182S|KIF21A_ENST00000544797.2_Missense_Mutation_p.T182S|KIF21A_ENST00000361418.5_Missense_Mutation_p.T182S			Q7Z4S6	KI21A_HUMAN	kinesin family member 21A	182	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(41)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	86		Lung NSC(34;0.179)|all_lung(34;0.213)				AATTCCTCCAGTTGAATCTTC	0.313													C	39761740	G	C	39761740	3	2	550	1	0	0	0	0	1	0	0	0	8346	1029	36	4	4619	4	KIF21A	12	39761740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	18146068	39761740	94090155	47	47790											
CSRP2	1466	broad.mit.edu	37	chr12	77253345	77253347	+	In_Frame_Del	DEL	CTT	CTT	-																															acctttacaatagatttcacCttctttttcagtcagagttg																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:77253345_77253347delCTT	ENST00000311083.5	-	5	608_610	c.485_487delAAG	c.(484-489)gaaggt>ggt	p.E162del	CSRP2_ENST00000547435.1_In_Frame_Del_p.E162del|CSRP2_ENST00000552330.1_In_Frame_Del_p.E212del|CSRP2_ENST00000546966.1_In_Frame_Del_p.E162del	NM_001321.1	NP_001312.1	Q16527	CSRP2_HUMAN	cysteine and glycine-rich protein 2	162	LIM zinc-binding 2.				multicellular organismal development	nucleus	zinc ion binding			kidney(1)|large_intestine(4)|ovary(1)|prostate(1)|skin(1)	8						TAGATTTCACCTTCTTTTTCAGT	0.374													-	77253347	CTT	-	77253345	7	5	550	1	0	1	0	1	0	0	0	0	4000	681	24	0	102	0	CSRP2	12	77253345	In_Frame_Del	DEL	CTT	TCGA-HT-7689-01A-11D-2253-08	37491605	77253345	56598550	48	47791											
RILPL1	353116	broad.mit.edu	37	chr12	123983204	123983204	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttggtctgcaggtctgcctCcagctccaccttctgttcga	4	13	9	15	1	3	0	0	0	3	0	6	1	5	0	4	2	3	3	4	2	0	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr12:123983204C>T	ENST00000376874.4	-	4	923	c.688G>A	c.(688-690)Gag>Aag	p.E230K	RILPL1_ENST00000340724.6_Missense_Mutation_p.E78K	NM_178314.3	NP_847884.2	Q5EBL4	RIPL1_HUMAN	Rab interacting lysosomal protein-like 1	230					neuroprotection	cytosol				endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000224)|Epithelial(86;0.00067)|all cancers(50;0.00836)|BRCA - Breast invasive adenocarcinoma(302;0.197)		AGGTCTGCCTCCAGCTCCACC	0.627													T	123983204	C	T	123983204	3	4	550	1	0	0	0	0	1	0	0	0	13450	864	30	2	539	2	RILPL1	12	123983204	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	46729859	123983204	9868691	49	47792											
FUT8	2530	broad.mit.edu	37	chr14	66028460	66028460	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacaacagaatgaagactTgaggcgaatggccgaatctc	17	6	10	8	2	1	4	0	2	1	2	2	6	1	4	1	2	2	0	1	2	7	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:66028460T>A	ENST00000360689.5	+	3	1906	c.179T>A	c.(178-180)tTg>tAg	p.L60*	FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394586.2_Nonsense_Mutation_p.L60*|FUT8_ENST00000394585.1_Nonsense_Mutation_p.L60*	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	60					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AATGAAGACTTGAGGCGAATG	0.428													A	66028460	T	A	66028460	4	1	550	1	0	0	0	0	0	1	0	0	6162	1821	63	5	181	5	FUT8	14	66028460	Nonsense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08		66028460	41321080	50	47793											
KCNK13	56659	broad.mit.edu	37	chr14	90650849	90650849	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accattggctttggggacctGgtcagcagccagaacgccca	9	7	12	13	1	1	1	1	0	0	1	1	2	1	2	4	4	3	2	4	4	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr14:90650849G>A	ENST00000282146.4	+	2	1170	c.729G>A	c.(727-729)ctG>ctA	p.L243L		NM_022054.2	NP_071337.2	Q9HB14	KCNKD_HUMAN	potassium channel, subfamily K, member 13	243						integral to membrane	potassium channel activity|voltage-gated ion channel activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(12)|prostate(1)|skin(4)	25		all_cancers(154;0.186)				TTGGGGACCTGGTCAGCAGCC	0.532													A	90650849	G	A	90650849	2	1	550	1	0	0	0	0	0	0	0	1	8119	1335	47	2		2	KCNK13	14	90650849	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	24622389	90650849	16698691	51	47794											
DMXL2	23312	broad.mit.edu	37	chr15	51766595	51766595	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagttttacaccgcctcCaaaaacagcagcccacattc	15	7	4	15	1	0	0	0	0	0	0	2	0	1	0	4	0	5	2	4	0	5	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:51766595C>T	ENST00000251076.5	-	28	7443	c.7156G>A	c.(7156-7158)Gga>Aga	p.G2386R	RP11-707P17.1_ENST00000561007.1_RNA|DMXL2_ENST00000543779.2_Missense_Mutation_p.G2387R|DMXL2_ENST00000449909.3_Missense_Mutation_p.G1750R	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2386						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		ACACCGCCTCCAAAAACAGCA	0.368													T	51766595	C	T	51766595	3	4	550	1	0	0	0	0	1	0	0	0	4634	603	21	2	2018	2	DMXL2	15	51766595	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		51766595	50764797	52	47795											
TLN2	83660	broad.mit.edu	37	chr15	63042617	63042617	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagactgtgaaggggatgtTggacaatcctaatgaacctg	12	10	13	6	0	0	3	0	2	0	1	1	5	1	5	2	3	1	2	2	3	5	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:63042617T>C	ENST00000561311.1	+	33	4366	c.4136T>C	c.(4135-4137)tTg>tCg	p.L1379S	TLN2_ENST00000306829.6_Missense_Mutation_p.L1379S			Q9Y4G6	TLN2_HUMAN	talin 2	1379					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						AAGGGGATGTTGGACAATCCT	0.403													C	63042617	T	C	63042617	3	2	550	1	0	0	0	0	1	0	0	0	16048	1821	63	3	4258	3	TLN2	15	63042617	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	11276022	63042617	39488775	53	47796											
MTFMT	123263	broad.mit.edu	37	chr15	65312542	65312542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccttcactcaccgtaagtCgccccctccattggctgctg	6	10	8	17	2	2	0	2	0	0	0	4	0	3	0	5	1	2	3	5	1	1	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr15:65312542C>T	ENST00000220058.4	-	5	727	c.714G>A	c.(712-714)gcG>gcA	p.A238A		NM_139242.3	NP_640335.2	Q96DP5	FMT_HUMAN	mitochondrial methionyl-tRNA formyltransferase	238						mitochondrion	methionyl-tRNA formyltransferase activity|methyltransferase activity			endometrium(1)|large_intestine(3)|lung(3)|ovary(3)	10					Tetrahydrofolic acid(DB00116)	CACCGTAAGTCGCCCCCTCCA	0.413													T	65312542	C	T	65312542	2	4	550	1	0	0	0	0	0	0	0	1	10000	871	31	1		1	MTFMT	15	65312542	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	2269925	65312542	37218850	54	47797											
SRCAP	10847	broad.mit.edu	37	chr16	30732740	30732740	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccaccacagcagtgccagctCcgactcctgcaccacagcgc	9	4	8	20	2	0	0	0	0	0	0	2	1	2	0	6	0	5	3	6	0	0	0			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30732740C>G	ENST00000262518.4	+	21	3869	c.3484C>G	c.(3484-3486)Ccg>Gcg	p.P1162A	SRCAP_ENST00000395059.2_Missense_Mutation_p.P1162A|SRCAP_ENST00000344771.4_Intron	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1162	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			AGTGCCAGCTCCGACTCCTGC	0.612													G	30732740	C	G	30732740	3	3	550	1	0	0	0	0	1	0	0	0	15231	855	30	4	3558	4	SRCAP	16	30732740	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08		30732740	59622013	55	47798											
SRCAP	10847	broad.mit.edu	37	chr16	30734516	30734516	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actctggtgaggcctcttctCaagctggtccacagtccttc	6	12	9	14	0	3	1	1	1	3	0	7	1	5	1	3	3	1	1	3	3	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:30734516C>G	ENST00000262518.4	+	24	4510	c.4125C>G	c.(4123-4125)ctC>ctG	p.L1375L	SRCAP_ENST00000395059.2_Silent_p.L1313L|SRCAP_ENST00000344771.4_Silent_p.L1217L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1375	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity	p.L1375L(1)		NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GGCCTCTTCTCAAGCTGGTCC	0.602													G	30734516	C	G	30734516	2	3	550	1	0	0	0	0	0	0	0	1	15231	813	29	4		4	SRCAP	16	30734516	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1776	30734516	59620237	56	47799											
C16orf46	123775	broad.mit.edu	37	chr16	81094882	81094882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcctgttttcctgcttggCctttgggagaacatgctttc	4	15	12	10	0	0	1	0	0	0	1	2	2	1	1	3	3	3	3	3	3	1	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:81094882C>T	ENST00000378611.4	-	3	1187	c.1072G>A	c.(1072-1074)Gcc>Acc	p.A358T	C16orf46_ENST00000299578.5_Missense_Mutation_p.A358T|RP11-303E16.8_ENST00000564536.1_RNA	NM_001100873.1	NP_001094343.1	Q6P387	CP046_HUMAN	chromosome 16 open reading frame 46	358										NS(1)|endometrium(2)|large_intestine(3)|lung(9)|prostate(1)|stomach(1)|urinary_tract(1)	18						TCCTGCTTGGCCTTTGGGAGA	0.498													T	81094882	C	T	81094882	3	4	550	1	0	0	0	0	1	0	0	0	1829	739	26	2	147	2	C16orf46	16	81094882	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	50360366	81094882	9259871	57	47800											
ANKRD11	29123	broad.mit.edu	37	chr16	89351844	89351844	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtttcttttctgtagtccTttttcaataggtgcttgtcg	4	21	8	8	2	3	0	1	0	2	0	6	0	4	0	1	1	1	3	1	1	3	8			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr16:89351844T>C	ENST00000301030.4	-	9	1566	c.1106A>G	c.(1105-1107)aAg>aGg	p.K369R	ANKRD11_ENST00000378330.2_Missense_Mutation_p.K369R	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	369						nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		TCTGTAGTCCTTTTTCAATAG	0.453													C	89351844	T	C	89351844	3	2	550	1	0	0	0	0	1	0	0	0	639	1609	56	3	6905	3	ANKRD11	16	89351844	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	8256962	89351844	1002909	58	47801											
PITPNM3	83394	broad.mit.edu	37	chr17	6381927	6381927	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtagacctggttggcTcgctcgatgacggtggcgac	5	11	14	11	4	1	2	0	1	1	1	4	4	1	2	1	4	0	4	1	4	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:6381927T>A	ENST00000262483.8	-	7	804	c.717A>T	c.(715-717)cgA>cgT	p.R239R	PITPNM3_ENST00000421306.3_Silent_p.R203R	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		CCTGGTTGGCTCGCTCGATGA	0.632													A	6381927	T	A	6381927	2	1	550	1	0	0	0	0	0	0	0	1	12029	1538	54	5		5	PITPNM3	17	6381927	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08		6381927	74813283	59	47802											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	550	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	1195194	7577121	73618089	60	47803											
MPRIP	23164	broad.mit.edu	37	chr17	16979036	16979036	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctaggcaaaacccattTatggcggttggctgctcctg	7	12	10	12	1	1	0	0	0	1	0	3	0	3	0	3	4	2	4	3	4	4	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:16979036T>C	ENST00000395811.5	+	2	225	c.136T>C	c.(136-138)Tat>Cat	p.Y46H	MPRIP_ENST00000341712.4_Missense_Mutation_p.Y46H|MPRIP_ENST00000395804.3_Missense_Mutation_p.Y46H|MPRIP_ENST00000444976.1_Missense_Mutation_p.Y46H|MPRIP_ENST00000395807.2_3'UTR	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	46	Interaction with F-actin (By similarity).|PH 1.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						AAAACCCATTTATGGCGGTTG	0.547													C	16979036	T	C	16979036	3	2	550	1	0	0	0	0	1	0	0	0	9819	1754	61	3	142	3	MPRIP	17	16979036	Missense_Mutation	SNP	T	TCGA-HT-7689-01A-11D-2253-08	9401915	16979036	64216174	61	47804											
SGSH	6448	broad.mit.edu	37	chr17	78184761	78184761	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttcgagccaaagatggcGtagctggggtacgggatcga	9	8	16	8	4	1	1	0	0	1	1	3	4	1	2	1	4	3	3	1	4	3	3	rs149139346	byFrequency	TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr17:78184761G>A	ENST00000326317.6	-	8	1085	c.999C>T	c.(997-999)taC>taT	p.Y333Y	SGSH_ENST00000534910.1_Silent_p.Y130Y	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	333					proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			CAAAGATGGCGTAGCTGGGGT	0.652													A	78184761	G	A	78184761	2	1	550	1	0	0	0	0	0	0	0	1	14314	1140	40	1		1	SGSH	17	78184761	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	61205725	78184761	3010449	62	47805											
MUC16	94025	broad.mit.edu	37	chr19	9087885	9087885	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagtgttagtctctccAggagctgtcatctcaggtga	8	12	10	11	0	3	1	2	1	2	0	6	2	4	2	2	2	2	2	2	2	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9087885A>G	ENST00000397910.4	-	1	4133	c.3930T>C	c.(3928-3930)ccT>ccC	p.P1310P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1310	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						TAGTCTCTCCAGGAGCTGTCA	0.507													G	9087885	A	G	9087885	2	3	550	1	0	0	0	0	0	0	0	1	10049	175	7	3		3	MUC16	19	9087885	Silent	SNP	A	TCGA-HT-7689-01A-11D-2253-08		9087885	50041098	63	47806											
MUC16	94025	broad.mit.edu	37	chr19	9089322	9089322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtgctaggactctctgaCgattctgaagtcagtgtccc	9	11	11	10	1	3	3	1	2	2	1	5	5	4	4	1	1	1	1	1	1	2	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:9089322C>T	ENST00000397910.4	-	1	2696	c.2493G>A	c.(2491-2493)tcG>tcA	p.S831S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	831	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						GACTCTCTGACGATTCTGAAG	0.498													T	9089322	C	T	9089322	2	4	550	1	0	0	0	0	0	0	0	1	10049	523	19	1		1	MUC16	19	9089322	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	1437	9089322	50039661	64	47807											
DOCK6	57572	broad.mit.edu	37	chr19	11347158	11347158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccgcagctcctgctccacGttgccctcgctcagcacagt	5	8	9	19	3	1	0	1	0	0	0	4	0	3	0	4	0	4	6	4	0	0	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:11347158G>A	ENST00000294618.7	-	20	2267	c.2256C>T	c.(2254-2256)aaC>aaT	p.N752N	DOCK6_ENST00000319867.7_Silent_p.N56N	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	752	DHR-1.				blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CCTGCTCCACGTTGCCCTCGC	0.647													A	11347158	G	A	11347158	2	1	550	1	0	0	0	0	0	0	0	1	4730	1136	40	1		1	DOCK6	19	11347158	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2257836	11347158	47781825	65	47808											
GRAMD1A	57655	broad.mit.edu	37	chr19	35502409	35502409	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctttggggcccgtgaccGctgcttcctcctcatcttcc	2	14	8	17	2	2	1	1	1	1	0	6	1	6	1	6	2	1	2	6	2	0	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr19:35502409G>A	ENST00000504615.2	+	0	713				GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R186H|GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R179H|GRAMD1A_ENST00000599564.1_Missense_Mutation_p.R273H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A							integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GCCCGTGACCGCTGCTTCCTC	0.617													A	35502409	G	A	35502409	1	1	550	1	0	0	0	0	0	0	0	0	6802	1087	38	1		1	GRAMD1A	19	35502409	Translation_Start_Site	SNP	G	TCGA-HT-7689-01A-11D-2253-08	24155251	35502409	23626574	66	47809											
JAG1	182	broad.mit.edu	37	chr20	10624439	10624439	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccttacttattctgcagtcGggcccagcaaaacccggggc	8	9	10	14	2	1	0	0	0	1	0	3	0	2	0	3	3	4	2	3	3	4	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:10624439G>A	ENST00000254958.5	-	20	2960	c.2445C>T	c.(2443-2445)ccC>ccT	p.P815P	JAG1_ENST00000423891.2_Silent_p.P656P	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	815	EGF-like 15; calcium-binding (Potential).				angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						TTCTGCAGTCGGGCCCAGCAA	0.498									Alagille Syndrome				A	10624439	G	A	10624439	2	1	550	1	0	0	0	0	0	0	0	1	7992	1103	39	1		1	JAG1	20	10624439	Silent	SNP	G	TCGA-HT-7689-01A-11D-2253-08		10624439	52401081	67	47810											
SPTLC3	55304	broad.mit.edu	37	chr20	13134724	13134724	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcaggaaatgggattcattAtctatggcaatgagaatgct	13	12	11	5	0	2	1	1	1	1	1	2	4	2	3	0	3	2	3	0	3	5	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13134724A>G	ENST00000399002.2	+	10	1628	c.1354A>G	c.(1354-1356)Atc>Gtc	p.I452V	SPTLC3_ENST00000378194.4_3'UTR	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	452					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGGATTCATTATCTATGGCAA	0.428													G	13134724	A	G	13134724	3	3	550	1	0	0	0	0	1	0	0	0	15221	449	16	3	1392	3	SPTLC3	20	13134724	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08	2510285	13134724	49890796	68	47811											
SEL1L2	80343	broad.mit.edu	37	chr20	13912352	13912352	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattttctcttttattgatTacattactagatgttctttg	9	22	5	5	0	2	3	0	1	2	2	3	3	2	3	0	0	2	1	0	0	4	10			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chr20:13912352T>G	ENST00000284951.5	-	3	254	c.180A>C	c.(178-180)gtA>gtC	p.V60V	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.V60V			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	60						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						TTTTATTGATTACATTACTAG	0.274													G	13912352	T	G	13912352	2	3	550	1	0	0	0	0	0	0	0	1	14104	1741	61	5		5	SEL1L2	20	13912352	Silent	SNP	T	TCGA-HT-7689-01A-11D-2253-08	777628	13912352	49113168	69	47812											
GEMIN8	54960	broad.mit.edu	37	chrX	14027048	14027048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctcagaacttcagggggAtgaccggccagtacttgggc	9	7	15	10	1	2	2	2	1	0	1	2	4	2	3	2	4	3	2	2	4	2	3			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:14027048A>G	ENST00000380523.4	-	5	1031	c.713T>C	c.(712-714)aTc>aCc	p.I238T	GEMIN8_ENST00000398355.3_Missense_Mutation_p.I238T	NM_017856.2	NP_060326.1	Q9NWZ8	GEMI8_HUMAN	gem (nuclear organelle) associated protein 8	238					spliceosomal snRNP assembly	Cajal body|cytoplasm|SMN complex|spliceosomal complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	9						CTTCAGGGGGATGACCGGCCA	0.552													G	14027048	A	G	14027048	3	3	550	1	0	0	0	0	1	0	0	0	6390	333	12	3	19	3	GEMIN8	23	14027048	Missense_Mutation	SNP	A	TCGA-HT-7689-01A-11D-2253-08		14027048	141243512	70	47813											
GDPD2	54857	broad.mit.edu	37	chrX	69652260	69652260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggattcggtcaccaccaacGactgccagctgctgcagcag	9	7	11	14	2	1	0	1	0	0	0	2	2	1	1	3	2	6	4	3	2	1	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69652260G>A	ENST00000453994.2	+	14	1925	c.1564G>A	c.(1564-1566)Gac>Aac	p.D522N	GDPD2_ENST00000536730.1_Missense_Mutation_p.D392N|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.D392N|GDPD2_ENST00000374382.3_Missense_Mutation_p.D471N	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	471					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CACCACCAACGACTGCCAGCT	0.512													A	69652260	G	A	69652260	3	1	550	1	0	0	0	0	1	0	0	0	6380	1058	37	1	1614	1	GDPD2	23	69652260	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	55625212	69652260	85618300	71	47814											
DLG3	1741	broad.mit.edu	37	chrX	69717042	69717042	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttgcagagggagtgacatCcaacaccagtgacagcgaaa	14	5	12	10	1	0	3	0	2	0	1	1	5	1	4	2	1	3	2	2	1	2	1			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:69717042C>G	ENST00000194900.4	+	15	2227	c.1886C>G	c.(1885-1887)tCc>tGc	p.S629C	DLG3_ENST00000374360.3_Intron|DLG3_ENST00000374355.3_Missense_Mutation_p.S292C|DLG3_ENST00000542398.1_Missense_Mutation_p.S146C|DLG3_ENST00000461646.1_3'UTR			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	606	Guanylate kinase-like.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity	p.S292C(1)		endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGAGTGACATCCAACACCAGT	0.498													G	69717042	C	G	69717042	3	3	550	1	0	0	0	0	1	0	0	0	4595	855	30	4	2128	4	DLG3	23	69717042	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	64782	69717042	85553518	72	47815											
ATRX	546	broad.mit.edu	37	chrX	76939638	76939639	+	Frame_Shift_Ins	INS	-	-	T																															cctgctttaaaaatttaacaINStaactggagttcatgttggc																										TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:76939638_76939639insT	ENST00000373344.5	-	9	1323_1324	c.1109_1110insA	c.(1108-1110)tatfs	p.Y370fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.Y332fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	370					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)	AAAATTTAACATAACTGGAGTT	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939639	-	T	76939638	7	5	550	1	0	1	1	0	0	0	0	0	1213	224	8	0	6476	0	ATRX	23	76939638	Frame_Shift_Ins	INS	-	TCGA-HT-7689-01A-11D-2253-08	7222596	76939638	78330922	73	47816											
MCTS1	28985	broad.mit.edu	37	chrX	119739938	119739938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacatttgtcttacagccatGaacatatagaaatccttaca	15	12	5	9	0	1	2	0	1	1	1	2	3	2	2	2	0	4	0	2	0	6	5			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:119739938G>A	ENST00000371315.3	+	3	705	c.172G>A	c.(172-174)Gaa>Aaa	p.E58K	MCTS1_ENST00000371317.5_Missense_Mutation_p.E57K|MCTS1_ENST00000487133.1_3'UTR	NM_001137554.1	NP_001131026.1	Q9ULC4	MCTS1_HUMAN	malignant T cell amplified sequence 1	57					cell cycle|positive regulation of cell proliferation|regulation of growth|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm	RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|stomach(1)|urinary_tract(1)	10						TTACAGCCATGAACATATAGA	0.299													A	119739938	G	A	119739938	3	1	550	1	0	0	0	0	1	0	0	0	9477	1291	45	2	197	2	MCTS1	23	119739938	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	42800300	119739938	35530622	74	47817											
GRIA3	2892	broad.mit.edu	37	chrX	122538740	122538740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagactaaaatatggaacgGcatggttggggaacttgtct	13	10	13	5	1	1	1	0	0	1	1	1	4	1	3	0	5	2	2	0	5	5	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:122538740G>A	ENST00000264357.5	+	10	1767	c.1475G>A	c.(1474-1476)gGc>gAc	p.G492D	GRIA3_ENST00000371256.5_Missense_Mutation_p.G492D|GRIA3_ENST00000541091.1_Missense_Mutation_p.G476D|GRIA3_ENST00000371251.1_Missense_Mutation_p.G492D|GRIA3_ENST00000542149.1_Missense_Mutation_p.G492D	NM_000828.4	NP_000819	P42263	GRIA3_HUMAN	glutamate receptor, ionotropic, AMPA 3	492					glutamate signaling pathway|synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			breast(2)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|pancreas(2)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	57					L-Glutamic Acid(DB00142)	ATATGGAACGGCATGGTTGGG	0.378													A	122538740	G	A	122538740	3	1	550	1	0	0	0	0	1	0	0	0	6824	1203	42	2	1513	2	GRIA3	23	122538740	Missense_Mutation	SNP	G	TCGA-HT-7689-01A-11D-2253-08	2798802	122538740	32731820	75	47818											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299120	125299120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccagggcccgtaccttgCggttgctggggttggtgctg	3	10	18	10	2	0	0	0	0	0	0	0	0	0	0	3	6	4	5	3	6	1	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:125299120C>T	ENST00000538699.1	-	2	868	c.788G>A	c.(787-789)cGc>cAc	p.R263H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R263H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	263										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCGTACCTTGCGGTTGCTGGG	0.637													T	125299120	C	T	125299120	3	4	550	1	0	0	0	0	1	0	0	0	4299	768	27	1	607	1	DCAF12L2	23	125299120	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	2760380	125299120	29971440	76	47819											
SLITRK2	84631	broad.mit.edu	37	chrX	144904329	144904329	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagatattgagggaggacaCcttcctaggcctggagagcc	10	8	14	9	0	0	3	0	2	0	2	1	7	1	5	4	4	1	0	4	4	2	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:144904329C>A	ENST00000370490.1	+	1	4641	c.386C>A	c.(385-387)aCc>aAc	p.T129N	SLITRK2_ENST00000447897.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000428560.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000434188.2_Missense_Mutation_p.T129N|SLITRK2_ENST00000413937.2_Missense_Mutation_p.T129N			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	129						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AGGGAGGACACCTTCCTAGGC	0.502													A	144904329	C	A	144904329	3	1	550	1	0	0	0	0	1	0	0	0	14837	507	18	4	388	4	SLITRK2	23	144904329	Missense_Mutation	SNP	C	TCGA-HT-7689-01A-11D-2253-08	19605209	144904329	10366231	77	47820											
AFF2	2334	broad.mit.edu	37	chrX	148048318	148048318	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttgtcctcctttttcccAggagggagacactccaaaaa	11	12	7	11	0	0	1	0	0	0	1	4	3	4	2	4	2	0	0	4	2	3	4			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:148048318A>C	ENST00000370460.2	+	14	3392		c.e14-1		AFF2_ENST00000286437.5_Splice_Site|AFF2_ENST00000342251.3_Splice_Site|AFF2_ENST00000370457.5_Splice_Site	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2						brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					CCTTTTTCCCAGGAGGGAGAC	0.443													C	148048318	A	C	148048318	5	2	550	1	0	0	0	0	0	0	1	0	357	202	7	5	3021	5	AFF2	23	148048318	Splice_Site	SNP	A	TCGA-HT-7689-01A-11D-2253-08	3143989	148048318	7222242	78	47821											
GABRA3	2556	broad.mit.edu	37	chrX	151336862	151336862	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcagtcgggctgtcctgCacgtaggtggccttgggtga	4	11	16	10	2	1	1	1	1	1	0	4	1	2	1	2	4	1	3	2	4	1	2			TCGA-HT-7689-01A-11D-2253-08	TCGA-HT-7689-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b95cd446-0fed-4da2-892f-24b39d073ab4	77467f98-3e82-4ce7-abbe-8e69e7a77dbe	g.chrX:151336862C>T	ENST00000370314.4	-	10	1555	c.1317G>A	c.(1315-1317)gtG>gtA	p.V439V	RP11-329E24.6_ENST00000453915.1_RNA|GABRA3_ENST00000535043.1_Silent_p.V439V	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	439					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGCTGTCCTGCACGTAGGTGG	0.522													T	151336862	C	T	151336862	2	4	550	1	0	0	0	0	0	0	0	1	6214	697	25	2		2	GABRA3	23	151336862	Silent	SNP	C	TCGA-HT-7689-01A-11D-2253-08	3288544	151336862	3933698	79	47822											
SLC30A2	7780	broad.mit.edu	37	chr1	26371545	26371545	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggctacatacagctggcGctgggccttccccttcttgg	6	10	12	13	1	1	1	0	0	1	1	2	1	2	1	3	4	3	3	3	4	2	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:26371545G>A	ENST00000374278.3	-	2	430	c.214C>T	c.(214-216)Cgc>Tgc	p.R72C	SLC30A2_ENST00000498060.1_5'UTR|SLC30A2_ENST00000374276.3_Missense_Mutation_p.R72C	NM_032513.3	NP_115902.1	Q9BRI3	ZNT2_HUMAN	solute carrier family 30 (zinc transporter), member 2	72					positive regulation of sequestering of zinc ion|zinc ion transport	integral to membrane|late endosome|lysosomal membrane	cation transmembrane transporter activity	p.R72C(1)		cervix(1)|endometrium(2)|kidney(1)|lung(8)|stomach(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;7.09e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00614)|READ - Rectum adenocarcinoma(331;0.0649)		TACAGCTGGCGCTGGGCCTTC	0.532													A	26371545	G	A	26371545	3	1	551	1	0	0	0	0	1	0	0	0	14649	1087	38	1	932	1	SLC30A2	1	26371545	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		26371545	222879076	1	47823											
NOTCH2	4853	broad.mit.edu	37	chr1	120510154	120510154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattgatgtccatctcacaaCgaggtcctgcataacccttc	10	11	6	14	1	1	1	1	1	1	0	5	2	3	1	3	1	3	1	3	1	2	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:120510154C>T	ENST00000256646.2	-	8	1574	c.1355G>A	c.(1354-1356)cGt>cAt	p.R452H		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	452	EGF-like 11; calcium-binding (Potential).				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCTCACAACGAGGTCCTGC	0.498			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120510154	C	T	120510154	3	4	551	1	0	0	0	0	1	0	0	0	10624	536	19	1	6168	1	NOTCH2	1	120510154	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	94138609	120510154	128740467	2	47824											
XCL1	6375	broad.mit.edu	37	chr1	168550354	168550354	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacatgggtgagagacgtgGtcaggagcatggacaggaaa	13	5	16	7	1	1	2	1	1	0	1	1	6	1	5	1	5	1	1	1	5	1	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:168550354G>A	ENST00000367818.3	+	3	406	c.241G>A	c.(241-243)Gtc>Atc	p.V81I		NM_002995.2	NP_002986.1	P47992	XCL1_HUMAN	chemokine (C motif) ligand 1	81					CD4-positive, alpha-beta T cell proliferation|CD8-positive, alpha-beta T cell proliferation|cell-cell signaling|cellular response to interleukin-4|cellular response to transforming growth factor beta stimulus|immunoglobulin production in mucosal tissue|lymphocyte chemotaxis|negative regulation of interferon-gamma production|negative regulation of interleukin-2 production|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell cytokine production|negative regulation of T-helper 1 cell activation|negative regulation of transcription, DNA-dependent|neutrophil chemotaxis|positive regulation of activated T cell proliferation|positive regulation of B cell chemotaxis|positive regulation of granzyme A production|positive regulation of granzyme B production|positive regulation of interleukin-10 production|positive regulation of natural killer cell chemotaxis|positive regulation of neutrophil chemotaxis|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of T cell chemotaxis|positive regulation of T cell cytokine production|positive regulation of T cell mediated cytotoxicity|positive regulation of thymocyte migration|positive regulation of transforming growth factor-beta production|regulation of inflammatory response|release of sequestered calcium ion into cytosol|response to virus|T-helper 1 cell cytokine production|T-helper 2 cell cytokine production	extracellular space	chemokine activity|protein homodimerization activity			kidney(2)|lung(7)|upper_aerodigestive_tract(1)	10	all_hematologic(923;0.208)					GAGAGACGTGGTCAGGAGCAT	0.483													A	168550354	G	A	168550354	3	1	551	1	0	0	0	0	1	0	0	0	17525	1261	44	2	251	2	XCL1	1	168550354	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	48040200	168550354	80700267	3	47825											
MIA3	375056	broad.mit.edu	37	chr1	222828024	222828024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagaaattggaagatgaccGcaactcactacaagctgcca	17	6	8	10	1	1	3	1	1	0	2	1	4	1	4	2	1	4	2	2	1	6	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr1:222828024G>A	ENST00000344922.5	+	18	4521	c.4496G>A	c.(4495-4497)cGc>cAc	p.R1499H	MIA3_ENST00000344441.6_Missense_Mutation_p.R1499H|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.R377H	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1499					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GAAGATGACCGCAACTCACTA	0.448													A	222828024	G	A	222828024	3	1	551	1	0	0	0	0	1	0	0	0	9640	1087	38	1	4566	1	MIA3	1	222828024	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	54277670	222828024	26422597	4	47826											
AOX1	316	broad.mit.edu	37	chr2	201524011	201524011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagatctcaacggtttggcaGtaaaggtaacagtcactgca	13	9	10	9	1	2	1	2	0	1	1	3	1	2	1	0	3	3	5	0	3	4	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:201524011G>A	ENST00000374700.2	+	28	3536	c.3295G>A	c.(3295-3297)Gta>Ata	p.V1099I	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	1099					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	p.V1099I(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	CGGTTTGGCAGTAAAGGTAAC	0.498													A	201524011	G	A	201524011	3	1	551	1	0	0	0	0	1	0	0	0	731	1029	36	2	3405	2	AOX1	2	201524011	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		201524011	41675362	5	47827											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	551	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	7589101	209113112	34086261	6	47828											
CNOT6L	246175	broad.mit.edu	37	chr4	78665985	78665985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccatatagctgccgggtagCgtatttatcacataacacat	12	11	8	10	2	1	0	1	0	0	0	1	0	1	0	2	1	4	3	2	1	6	7			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr4:78665985C>T	ENST00000504123.1	-	7	734	c.604G>A	c.(604-606)Gct>Act	p.A202T	CNOT6L_ENST00000264903.4_Missense_Mutation_p.A202T|CNOT6L_ENST00000506166.1_Intron			Q96LI5	CNO6L_HUMAN	CCR4-NOT transcription complex, subunit 6-like	202					nuclear-transcribed mRNA poly(A) tail shortening	cytosol	exonuclease activity|protein binding			kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	9						TGCCGGGTAGCGTATTTATCA	0.393													T	78665985	C	T	78665985	3	4	551	1	0	0	0	0	1	0	0	0	3654	768	27	1	1087	1	CNOT6L	4	78665985	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		78665985	112488291	7	47829											
ADRA1B	147	broad.mit.edu	37	chr5	159344767	159344767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtcaaactttttaaGttctccagggaaaagaaagc	15	11	8	7	0	2	1	1	0	1	1	3	2	2	2	1	1	3	2	1	1	6	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr5:159344767G>T	ENST00000306675.3	+	1	978	c.855G>T	c.(853-855)aaG>aaT	p.K285N		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	285					cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity			endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)	AACTTTTTAAGTTCTCCAGGG	0.498													T	159344767	G	T	159344767	3	4	551	1	0	0	0	0	1	0	0	0	335	1020	36	4	857	4	ADRA1B	5	159344767	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		159344767	21570493	8	47830											
PKHD1	5314	broad.mit.edu	37	chr6	51747892	51747892	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accacactaaggcacttaccTtgtgggcaaaatgaccaagt	14	8	8	11	0	0	1	0	1	0	0	0	1	0	1	3	2	1	2	3	2	5	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr6:51747892T>C	ENST00000371117.3	-	46	7624	c.7349A>G	c.(7348-7350)aAg>aGg	p.K2450R	PKHD1_ENST00000340994.4_Splice_Site_p.K2450R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2450					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGCACTTACCTTGTGGGCAAA	0.388													C	51747892	T	C	51747892	5	2	551	1	0	0	0	0	0	0	1	0	12048	1623	56	3	5002	3	PKHD1	6	51747892	Splice_Site	SNP	T	TCGA-HT-7690-01A-11D-2253-08		51747892	119367175	9	47831											
KEL	3792	broad.mit.edu	37	chr7	142658506	142658506	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacaaaggagcaggcccAaaatcaggatagctgtcagc	18	4	10	9	0	2	0	2	0	0	0	2	2	2	2	1	3	4	2	1	3	6	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr7:142658506A>C	ENST00000355265.2	-	3	638	c.164T>G	c.(163-165)tTg>tGg	p.L55W	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	55					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GAGCAGGCCCAAAATCAGGAT	0.567													C	142658506	A	C	142658506	3	2	551	1	0	0	0	0	1	0	0	0	8200	131	5	5	2102	5	KEL	7	142658506	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08		142658506	16480157	10	47832											
KCNB2	9312	broad.mit.edu	37	chr8	73848875	73848875	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttttacaaggagcagaaaCgccaagagaaagcaattaaa	20	6	9	6	1	0	2	0	0	0	2	0	4	0	3	1	1	4	3	1	1	8	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:73848875C>T	ENST00000523207.1	+	3	1873	c.1285C>T	c.(1285-1287)Cgc>Tgc	p.R429C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	429					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			GGAGCAGAAACGCCAAGAGAA	0.438													T	73848875	C	T	73848875	3	4	551	1	0	0	0	0	1	0	0	0	8071	536	19	1	1291	1	KCNB2	8	73848875	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		73848875	72515147	11	47833											
EPPK1	83481	broad.mit.edu	37	chr8	144946590	144946590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaccctccaggtagcgccGcacctcggcacgtgcactca	7	6	11	17	4	1	0	1	0	0	0	3	0	2	0	4	3	3	5	4	3	2	2			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr8:144946590G>A	ENST00000525985.1	-	2	903	c.832C>T	c.(832-834)Cgg>Tgg	p.R278W				P58107	EPIPL_HUMAN	epiplakin 1	278						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			AGGTAGCGCCGCACCTCGGCA	0.682													A	144946590	G	A	144946590	3	1	551	1	0	0	0	0	1	0	0	0	5231	1086	38	1	6434	1	EPPK1	8	144946590	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	71097715	144946590	1417432	12	47834											
SLIT1	6585	broad.mit.edu	37	chr10	98819232	98819232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacagcgagttcagggagCggaggccctggaaggcgtcg	8	5	17	11	4	2	0	2	0	0	0	3	4	2	3	1	5	2	1	1	5	1	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr10:98819232C>T	ENST00000266058.4	-	11	1315	c.1070G>A	c.(1069-1071)cGc>cAc	p.R357H	SLIT1_ENST00000371070.4_Missense_Mutation_p.R357H|SLIT1_ENST00000371041.3_Missense_Mutation_p.R357H|ARHGAP19-SLIT1_ENST00000453547.2_3'UTR	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	357					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GTTCAGGGAGCGGAGGCCCTG	0.622													T	98819232	C	T	98819232	3	4	551	1	0	0	0	0	1	0	0	0	14833	768	27	1	3642	1	SLIT1	10	98819232	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08		98819232	36715515	13	47835											
CDC42BPG	55561	broad.mit.edu	37	chr11	64601218	64601218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtcctcacccccatgcGcaggctgcgtcggccctccg	4	7	10	20	4	1	0	1	0	0	0	4	0	3	0	6	2	2	2	6	2	0	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr11:64601218G>A	ENST00000342711.5	-	22	2556	c.2557C>T	c.(2557-2559)Cgc>Tgc	p.R853C		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	853					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						ACCCCCATGCGCAGGCTGCGT	0.687													A	64601218	G	A	64601218	3	1	551	1	0	0	0	0	1	0	0	0	3104	1087	38	1	2162	1	CDC42BPG	11	64601218	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		64601218	70405298	14	47836											
ABCC11	85320	broad.mit.edu	37	chr16	48211013	48211013	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatgtgtaaaggagcttcCgagacacacatcttgttttt	10	14	8	9	1	1	1	0	0	1	1	3	3	3	2	2	1	1	3	2	1	2	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr16:48211013C>T	ENST00000394747.1	-	24	3709	c.3360G>A	c.(3358-3360)tcG>tcA	p.S1120S	ABCC11_ENST00000394748.1_Silent_p.S1120S|ABCC11_ENST00000353782.5_Silent_p.S1120S|ABCC11_ENST00000356608.2_Silent_p.S1120S|ABCC11_ENST00000565329.1_5'UTR	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1120						integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AAGGAGCTTCCGAGACACACA	0.483													T	48211013	C	T	48211013	2	4	551	1	0	0	0	0	0	0	0	1	51	639	23	1		1	ABCC11	16	48211013	Silent	SNP	C	TCGA-HT-7690-01A-11D-2253-08		48211013	42143740	15	47837											
TP53	7157	broad.mit.edu	37	chr17	7577574	7577574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcaggaactgttacacatgTagttgtagtggatggtggta	10	13	14	4	0	0	0	0	0	0	0	0	2	0	2	0	4	3	6	0	4	5	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:7577574T>C	ENST00000420246.2	-	7	839	c.707A>G	c.(706-708)tAc>tGc	p.Y236C	TP53_ENST00000359597.4_Missense_Mutation_p.Y236C|TP53_ENST00000455263.2_Missense_Mutation_p.Y236C|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.Y236C|TP53_ENST00000445888.2_Missense_Mutation_p.Y236C|TP53_ENST00000269305.4_Missense_Mutation_p.Y236C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	236	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 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.Y236C(61)|p.0?(8)|p.?(5)|p.Y143C(5)|p.Y236del(4)|p.Y236S(3)|p.Y236_M237delYM(1)|p.I232_Y236delIHYNY(1)|p.H233fs*6(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.H233_C242del10(1)|p.N235_Y236delNY(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)		GTTACACATGTAGTTGTAGTG	0.572		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)			C	7577574	T	C	7577574	3	2	551	1	0	0	0	0	1	0	0	0	16482	1638	57	3	583	3	TP53	17	7577574	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		7577574	73617636	16	47838											
EVI2B	2124	broad.mit.edu	37	chr17	29631309	29631309	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcaggtggaggtggcAgggattcattaagatcttga	9	12	15	5	0	3	2	1	1	2	1	3	4	3	4	0	5	1	3	0	5	1	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:29631309A>T	ENST00000330927.4	-	2	1473	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	EVI2B_ENST00000544462.1_Missense_Mutation_p.L455Q|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron|EVI2B_ENST00000577894.1_Missense_Mutation_p.L440Q	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	440						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		TGGAGGTGGCAGGGATTCATT	0.363													T	29631309	A	T	29631309	3	4	551	1	0	0	0	0	1	0	0	0	5329	188	7	5	31	5	EVI2B	17	29631309	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	22053735	29631309	51563901	17	47839											
SLFN11	91607	broad.mit.edu	37	chr17	33690253	33690273	+	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	GGTCAGCAGGATCCGAGTTTG	-																															atagtctttttggaaaattaGgtcagcaggatccgagtttg																										TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:33690253_33690273delGGTCAGCAGGATCCGAGTTTG	ENST00000394566.1	-	4	826_846	c.554_574delCAAACTCGGATCCTGCTGACC	c.(553-576)ccaaactcggatcctgctgaccta>cta	p.PNSDPAD185del	SLFN11_ENST00000308377.4_In_Frame_Del_p.PNSDPAD185del	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	185						nucleus	ATP binding	p.S187S(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TGGAAAATTAGGTCAGCAGGATCCGAGTTTGGGTCAGCAGG	0.412													-	33690273	GGTCAGCAGGATCCGAGTTTG	-	33690253	7	5	551	1	0	1	0	1	0	0	0	0	14827	991	35	0	2147	0	SLFN11	17	33690253	In_Frame_Del	DEL	GGTCAGCAGGATCCGAGTTTG	TCGA-HT-7690-01A-11D-2253-08	4058944	33690253	47504957	18	47840											
RNF43	54894	broad.mit.edu	37	chr17	56435582	56435582	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaggctgcatgtccactcGctggggatcccctttagggc	6	10	12	13	1	0	0	0	0	0	0	3	1	2	1	3	4	1	3	3	4	2	3			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:56435582G>A	ENST00000584437.1	-	8	3510	c.1555C>T	c.(1555-1557)Cga>Tga	p.R519*	BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000577625.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000407977.2_Nonsense_Mutation_p.R519*|RNF43_ENST00000500597.2_Nonsense_Mutation_p.R478*|RNF43_ENST00000581868.1_Nonsense_Mutation_p.R392*|RNF43_ENST00000577716.1_Nonsense_Mutation_p.R519*|RNF43_ENST00000583753.1_Nonsense_Mutation_p.R478*			Q68DV7	RNF43_HUMAN	ring finger protein 43	519						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					ATGTCCACTCGCTGGGGATCC	0.592													A	56435582	G	A	56435582	4	1	551	1	0	0	0	0	0	1	0	0	13586	1095	38	1	804	1	RNF43	17	56435582	Nonsense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	22745329	56435582	24759628	19	47841											
MARCH10	162333	broad.mit.edu	37	chr17	60879010	60879010	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctttctgcaattacctgAtactcagagtccaccttatg	9	15	6	11	0	2	2	1	1	1	1	3	2	3	2	3	0	4	2	3	0	4	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr17:60879010A>G	ENST00000544856.2	-	3	465	c.87T>C	c.(85-87)taT>taC	p.Y29Y	MARCH10_ENST00000456609.2_Silent_p.Y29Y|MARCH10_ENST00000583600.1_Silent_p.Y29Y|MARCH10_ENST00000311269.5_Silent_p.Y29Y			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	29							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						CAATTACCTGATACTCAGAGT	0.428													G	60879010	A	G	60879010	2	3	551	1	0	0	0	0	0	0	0	1	9374	340	12	3		3	MARCH10	17	60879010	Silent	SNP	A	TCGA-HT-7690-01A-11D-2253-08	4443428	60879010	20316200	20	47842											
MATK	4145	broad.mit.edu	37	chr19	3779721	3779721	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacggccgtctcgtccaggaAggcctgggctgtcacatcac	7	7	13	14	3	3	0	2	0	1	0	5	2	4	1	3	4	0	1	3	4	1	0			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:3779721A>C	ENST00000310132.6	-	9	1215	c.817T>G	c.(817-819)Ttc>Gtc	p.F273V	MATK_ENST00000395045.2_Missense_Mutation_p.F274V|MATK_ENST00000395040.2_Missense_Mutation_p.F232V|MATK_ENST00000585778.1_Missense_Mutation_p.F273V	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	273	Protein kinase.				cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCGTCCAGGAAGGCCTGGGCT	0.687													C	3779721	A	C	3779721	3	2	551	1	0	0	0	0	1	0	0	0	9407	72	3	5	730	5	MATK	19	3779721	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08		3779721	55349262	21	47843											
MPND	84954	broad.mit.edu	37	chr19	4357346	4357346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctctgcaggacatcgacGcacagatggactaccagctg	11	7	10	13	2	1	1	0	0	1	1	3	4	1	3	1	2	3	3	1	2	1	1	rs61730129		TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:4357346G>A	ENST00000599840.1	+	9	1128	c.1093G>A	c.(1093-1095)Gca>Aca	p.A365T	MPND_ENST00000359935.4_Missense_Mutation_p.A315T|AC007292.3_ENST00000593524.1_RNA|MPND_ENST00000262966.8_Missense_Mutation_p.A365T			Q8N594	MPND_HUMAN	MPN domain containing	365	MPN.						peptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)	8				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		GGACATCGACGCACAGATGGA	0.672													A	4357346	G	A	4357346	3	1	551	1	0	0	0	0	1	0	0	0	9807	1087	38	1	1127	1	MPND	19	4357346	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08	577625	4357346	54771637	22	47844											
TBC1D17	79735	broad.mit.edu	37	chr19	50387777	50387777	+	Frame_Shift_Del	DEL	G	G	-																															tacgtcattcagaacgaggtGgatgctttctggtgtttctg																										TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:50387777delG	ENST00000221543.5	+	12	1604	c.1305delG	c.(1303-1305)gtgfs	p.V435fs	TBC1D17_ENST00000535102.2_Frame_Shift_Del_p.V402fs	NM_024682.2	NP_078958	Q9HA65	TBC17_HUMAN	TBC1 domain family, member 17	435	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			NS(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	15		all_lung(116;0.000338)|Lung NSC(112;0.000446)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0116)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		AGAACGAGGTGGATGCTTTCT	0.597													-	50387777	G	-	50387777	7	5	551	1	0	1	0	1	0	0	0	0	15703	1335	47	0	1351	0	TBC1D17	19	50387777	Frame_Shift_Del	DEL	G	TCGA-HT-7690-01A-11D-2253-08	46030431	50387777	8741206	23	47845											
ZNF667	63934	broad.mit.edu	37	chr19	56953384	56953384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcatttaaaaggattcTctaaatggtgacttctttgc	10	17	7	7	0	3	1	0	1	3	0	4	2	3	2	0	2	2	1	0	2	4	7			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:56953384T>C	ENST00000504904.3	-	7	1699	c.980A>G	c.(979-981)gAg>gGg	p.E327G	ZNF667_ENST00000342634.3_Missense_Mutation_p.E455G|ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000292069.6_Missense_Mutation_p.E327G			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	327					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		AAAAGGATTCTCTAAATGGTG	0.373													C	56953384	T	C	56953384	3	2	551	1	0	0	0	0	1	0	0	0	18175	1551	54	3	856	3	ZNF667	19	56953384	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08	6565607	56953384	2175599	24	47846											
ZNF749	388567	broad.mit.edu	37	chr19	57956845	57956845	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agataattcatactggaaaaAggccttagtggagtgaatgc	15	10	11	5	0	1	2	1	1	0	1	1	4	1	4	1	3	2	0	1	3	6	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr19:57956845A>G	ENST00000334181.4	+	3	2579	c.2329A>G	c.(2329-2331)Agg>Ggg	p.R777G	AC004076.9_ENST00000596831.1_Intron	NM_001023561.2	NP_001018855.2	O43361	ZN749_HUMAN	zinc finger protein 749	777					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|lung(3)|prostate(1)	13		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0264)|Lung(386;0.177)		TACTGGAAAAAGGCCTTAGTG	0.393													G	57956845	A	G	57956845	3	3	551	1	0	0	0	0	1	0	0	0	18231	63	3	3	2339	3	ZNF749	19	57956845	Missense_Mutation	SNP	A	TCGA-HT-7690-01A-11D-2253-08	1003461	57956845	1172138	25	47847											
PI3	5266	broad.mit.edu	37	chr20	43804672	43804672	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattatcttgatccggtgcGccatgttgaatccccctaac	8	12	7	14	2	1	2	0	2	1	0	3	2	3	2	5	1	2	1	5	1	3	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr20:43804672G>C	ENST00000243924.3	+	2	297	c.250G>C	c.(250-252)Gcc>Ccc	p.A84P		NM_002638.3	NP_002629.1	P19957	ELAF_HUMAN	peptidase inhibitor 3, skin-derived	84	WAP.				copulation	proteinaceous extracellular matrix	serine-type endopeptidase inhibitor activity			large_intestine(1)|lung(5)|skin(1)	7		Myeloproliferative disorder(115;0.0122)				GATCCGGTGCGCCATGTTGAA	0.512													C	43804672	G	C	43804672	3	2	551	1	0	0	0	0	1	0	0	0	11947	1087	38	4	256	4	PI3	20	43804672	Missense_Mutation	SNP	G	TCGA-HT-7690-01A-11D-2253-08		43804672	19220848	26	47848											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044326	51044326	+	Frame_Shift_Del	DEL	C	C	-																															tccgtggaggtgccctgccaCcagggcaacggcatcctgtg																										TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chr22:51044326delC	ENST00000399908.2	+	6	2006	c.1290delC	c.(1288-1290)cacfs	p.H430fs	MAPK8IP2_ENST00000329492.3_Frame_Shift_Del_p.H695fs|MAPK8IP2_ENST00000341339.4_Frame_Shift_Del_p.H316fs|MAPK8IP2_ENST00000008876.5_Frame_Shift_Del_p.H401fs|MAPK8IP2_ENST00000442429.2_Frame_Shift_Del_p.H418fs|MAPK8IP2_ENST00000399912.1_Frame_Shift_Del_p.H430fs	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	696	Pro-rich.				behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCCCTGCCACCAGGGCAACG	0.682													-	51044326	C	-	51044326	7	5	551	1	0	1	0	1	0	0	0	0	9360	506	18	0	2207	0	MAPK8IP2	22	51044326	Frame_Shift_Del	DEL	C	TCGA-HT-7690-01A-11D-2253-08		51044326	260240	27	47849											
ATRX	546	broad.mit.edu	37	chrX	76849221	76849221	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaagagaagtaccatttTcccagaatgctctaaaacct	15	11	5	10	0	2	2	1	0	1	2	3	3	3	2	3	0	3	2	3	0	6	5			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:76849221T>C	ENST00000373344.5	-	26	6269	c.6055A>G	c.(6055-6057)Aaa>Gaa	p.K2019E	ATRX_ENST00000395603.3_Missense_Mutation_p.K1981E|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2019					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)	AGTACCATTTTCCCAGAATGC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76849221	T	C	76849221	3	2	551	1	0	0	0	0	1	0	0	0	1213	1792	62	3	1463	3	ATRX	23	76849221	Missense_Mutation	SNP	T	TCGA-HT-7690-01A-11D-2253-08		76849221	78421339	28	47850											
AMOT	154796	broad.mit.edu	37	chrX	112022266	112022266	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaacttggtatagacaaaCgatgtggtccaggaccggta	13	9	11	8	2	1	1	1	0	0	1	2	3	2	2	2	4	2	2	2	4	5	4			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:112022266C>A	ENST00000371959.3	-	10	3115	c.3116G>T	c.(3115-3117)cGt>cTt	p.R1039L	AMOT_ENST00000524145.1_Missense_Mutation_p.R1039L|AMOT_ENST00000304758.1_Missense_Mutation_p.R630L|AMOT_ENST00000371962.1_Missense_Mutation_p.R807L	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	1039					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						TATAGACAAACGATGTGGTCC	0.488													A	112022266	C	A	112022266	3	1	551	1	0	0	0	0	1	0	0	0	582	536	19	4	146	4	AMOT	23	112022266	Missense_Mutation	SNP	C	TCGA-HT-7690-01A-11D-2253-08	35173045	112022266	43248294	29	47851											
ATP11C	286410	broad.mit.edu	37	chrX	138857058	138857058	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccccagtgagcacccagacTttcaggcctgctgcatgcag	8	8	10	15	0	1	2	1	1	0	1	2	2	2	2	4	1	4	4	4	1	0	1			TCGA-HT-7690-01A-11D-2253-08	TCGA-HT-7690-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c74b94d-14f8-4e14-a9ec-da0a310c2da0	1edb908b-2481-4655-bdfc-34ebeba029ae	g.chrX:138857058T>C	ENST00000370557.1	-	19	3034	c.2007A>G	c.(2005-2007)aaA>aaG	p.K669K	ATP11C_ENST00000359686.2_Silent_p.K672K|ATP11C_ENST00000370543.1_Silent_p.K672K|ATP11C_ENST00000327569.3_Silent_p.K672K|ATP11C_ENST00000361648.2_Silent_p.K672K|ATP11C_ENST00000460773.1_5'UTR			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	672					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					GCACCCAGACTTTCAGGCCTG	0.483													C	138857058	T	C	138857058	2	2	551	1	0	0	0	0	0	0	0	1	1126	1606	56	3		3	ATP11C	23	138857058	Silent	SNP	T	TCGA-HT-7690-01A-11D-2253-08	26834792	138857058	16413502	30	47852											
SLC6A17	388662	broad.mit.edu	37	chr1	110740737	110740737	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttccccaactgggccatgGcactcctgatcaccctcatc	8	10	6	17	0	2	1	2	1	0	0	5	1	4	1	5	2	1	1	5	2	1	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr1:110740737G>A	ENST00000331565.4	+	12	2340	c.1855G>A	c.(1855-1857)Gca>Aca	p.A619T		NM_001010898.2	NP_001010898.1	Q9H1V8	S6A17_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 17	619					alanine transport|glycine transport|leucine transport|proline transport	cell junction|integral to plasma membrane|synaptic vesicle membrane	neurotransmitter:sodium symporter activity			breast(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	37		all_cancers(81;9.9e-06)|all_epithelial(167;3.24e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)		Lung(183;0.0282)|Epithelial(280;0.0372)|all cancers(265;0.0378)|Colorectal(144;0.0438)|LUSC - Lung squamous cell carcinoma(189;0.151)|COAD - Colon adenocarcinoma(174;0.151)		CTGGGCCATGGCACTCCTGAT	0.657													A	110740737	G	A	110740737	3	1	552	1	0	0	0	0	1	0	0	0	14774	1203	42	2	1897	2	SLC6A17	1	110740737	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		110740737	138509884	1	47853											
FLNB	2317	broad.mit.edu	37	chr3	58149024	58149024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccctgccctggtgtccGcctatggcacgggactcgaa	7	7	13	14	3	0	0	0	0	0	0	2	3	1	2	4	4	2	1	4	4	3	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr3:58149024G>A	ENST00000295956.4	+	43	7330	c.7165G>A	c.(7165-7167)Gcc>Acc	p.A2389T	FLNB-AS1_ENST00000488720.1_RNA|FLNB_ENST00000348383.5_Missense_Mutation_p.A2348T|FLNB_ENST00000493452.1_Missense_Mutation_p.A2196T|FLNB_ENST00000358537.3_Missense_Mutation_p.A2365T|FLNB_ENST00000357272.4_3'UTR|FLNB_ENST00000419752.2_Missense_Mutation_p.A2209T|FLNB_ENST00000429972.2_Missense_Mutation_p.A2378T|FLNB_ENST00000490882.1_Missense_Mutation_p.A2420T	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2389	Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding	p.A2389T(1)		NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCTGGTGTCCGCCTATGGCAC	0.582													A	58149024	G	A	58149024	3	1	552	1	0	0	0	0	1	0	0	0	5983	1087	38	1	7432	1	FLNB	3	58149024	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		58149024	139873406	2	47854											
PCDHB10	56126	broad.mit.edu	37	chr5	140572688	140572688	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattagtggcggtgatgaagGcatgatatatccagagctag	12	10	13	6	1	0	4	0	3	0	1	1	4	1	4	1	3	1	2	1	3	5	4			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr5:140572688G>T	ENST00000239446.4	+	1	747	c.563G>T	c.(562-564)gGc>gTc	p.G188V		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN		188	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGATGAAGGCATGATATAT	0.498													T	140572688	G	T	140572688	3	4	552	1	0	0	0	0	1	0	0	0	11611	1203	42	4	565	4	PCDHB10	5	140572688	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		140572688	40342572	3	47855											
KLC4	89953	broad.mit.edu	37	chr6	43042382	43042382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccggggcctcagtgccaGcaccatggacctctcttcaa	7	8	9	17	1	3	0	2	0	1	0	5	1	4	1	5	3	2	1	5	3	1	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr6:43042382G>A	ENST00000394056.2	+	17	2327	c.1832G>A	c.(1831-1833)aGc>aAc	p.S611N	KLC4_ENST00000259708.3_Missense_Mutation_p.S629N|KLC4_ENST00000453940.2_Missense_Mutation_p.S534N|KLC4_ENST00000479388.1_Missense_Mutation_p.S611N|RP11-387M24.5_ENST00000606123.1_RNA|KLC4_ENST00000347162.5_Missense_Mutation_p.S611N|KLC4_ENST00000394058.1_Missense_Mutation_p.S611N			Q9NSK0	KLC4_HUMAN	kinesin light chain 4	611						cytoplasm|kinesin complex|microtubule	microtubule motor activity|protein binding			endometrium(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(4)	23			all cancers(41;0.00169)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0376)|KIRC - Kidney renal clear cell carcinoma(2;0.0453)			CTCAGTGCCAGCACCATGGAC	0.617													A	43042382	G	A	43042382	3	1	552	1	0	0	0	0	1	0	0	0	8394	971	34	2	2017	2	KLC4	6	43042382	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08		43042382	128072685	4	47856											
TAF5	6877	broad.mit.edu	37	chr10	105145230	105145230	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tattattttgtgtcagggggCcatgaccgagtagctcggta	8	13	13	7	2	1	1	1	1	0	0	2	2	1	1	2	3	1	3	2	3	4	6	rs145434074		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr10:105145230C>T	ENST00000369839.3	+	8	1835	c.1812C>T	c.(1810-1812)ggC>ggT	p.G604G	TAF5_ENST00000351396.4_Intron	NM_006951.3	NP_008882.2	Q15542	TAF5_HUMAN	TAF5 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 100kDa	604					histone acetylation|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	actin cytoskeleton|transcription factor TFIID complex|transcription factor TFTC complex	protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)	15		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;1.83e-09)|all cancers(201;1.4e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		TGTCAGGGGGCCATGACCGAG	0.413													T	105145230	C	T	105145230	2	4	552	1	0	0	0	0	0	0	0	1	15625	726	26	2		2	TAF5	10	105145230	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		105145230	30389517	5	47857											
MTL5	9633	broad.mit.edu	37	chr11	68517872	68517872	+	Frame_Shift_Del	DEL	C	C	-																															gctccccgccgtcgctgtcgCcccccgcgagcttcgccttg																										TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:68517872delC	ENST00000443940.2	-	2	343	c.257delG	c.(256-258)ggcfs	p.G86fs	MTL5_ENST00000255087.5_Frame_Shift_Del_p.G86fs|MTL5_ENST00000544963.1_Frame_Shift_Del_p.G86fs			Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	86					cell differentiation|cellular metal ion homeostasis|multicellular organismal development|response to metal ion|spermatogenesis	cytoplasm|nucleus|soluble fraction	metal ion binding			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			GTCGCTGTCGCCCCCCGCGAG	0.751													-	68517872	C	-	68517872	7	5	552	1	0	1	0	1	0	0	0	0	10012	739	26	0	1309	0	MTL5	11	68517872	Frame_Shift_Del	DEL	C	TCGA-HT-7691-01A-11D-2253-08		68517872	66488644	6	47858											
RELT	84957	broad.mit.edu	37	chr11	73101914	73101914	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctttggaggaggctggagGcccaggtgggcatggcaact	7	7	18	9	0	0	0	0	0	0	0	0	3	0	3	2	8	1	3	2	8	1	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr11:73101914G>A	ENST00000064780.2	+	4	496	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	RELT_ENST00000393580.2_Missense_Mutation_p.A79T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	79						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						GAGGCTGGAGGCCCAGGTGGG	0.652													A	73101914	G	A	73101914	3	1	552	1	0	0	0	0	1	0	0	0	13309	1203	42	2	245	2	RELT	11	73101914	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08	4584042	73101914	61904602	7	47859											
B4GALNT1	2583	broad.mit.edu	37	chr12	58025769	58025769	+	Frame_Shift_Del	DEL	G	G	-																															ggagcaagatctggcagctcGggcctgcgggggctttgcgg																										TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr12:58025769delG	ENST00000341156.4	-	2	731	c.147delC	c.(145-147)cccfs	p.P49fs	B4GALNT1_ENST00000552350.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000449184.3_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550764.1_Frame_Shift_Del_p.P49fs|B4GALNT1_ENST00000550943.1_5'UTR|B4GALNT1_ENST00000418555.2_Frame_Shift_Del_p.P49fs	NM_001478.3	NP_001469.1	Q00973	B4GN1_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 1	49					lipid glycosylation	integral to Golgi membrane|membrane fraction	(N-acetylneuraminyl)-galactosylglucosylceramide N-acetylgalactosaminyltransferase activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|urinary_tract(1)	20	Melanoma(17;0.122)		BRCA - Breast invasive adenocarcinoma(9;0.109)			CTGGCAGCTCGGGCCTGCGGG	0.726													-	58025769	G	-	58025769	7	5	552	1	0	1	0	1	0	0	0	0	1271	1103	39	0	1494	0	B4GALNT1	12	58025769	Frame_Shift_Del	DEL	G	TCGA-HT-7691-01A-11D-2253-08		58025769	75826126	8	47860											
SACS	26278	broad.mit.edu	37	chr13	23908606	23908606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcatctttaaaacaataatCaactaaaagttttaaactat	19	14	2	6	0	2	0	1	0	1	0	2	0	2	0	0	0	4	2	0	0	10	7			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr13:23908606C>T	ENST00000382298.3	-	10	9997	c.9409G>A	c.(9409-9411)Gat>Aat	p.D3137N	SACS_ENST00000402364.1_Missense_Mutation_p.D2387N|SACS_ENST00000382292.3_Missense_Mutation_p.D3137N	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	3137					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		AAACAATAATCAACTAAAAGT	0.373													T	23908606	C	T	23908606	3	4	552	1	0	0	0	0	1	0	0	0	13895	826	29	2	4334	2	SACS	13	23908606	Missense_Mutation	SNP	C	TCGA-HT-7691-01A-11D-2253-08		23908606	91261272	9	47861											
HCN4	10021	broad.mit.edu	37	chr15	73615170	73615170	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcagggctggctgagaCgcggagatgagcttgaggtc	8	7	19	7	2	0	5	0	4	0	2	1	7	0	5	0	5	1	4	0	5	0	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr15:73615170C>T	ENST00000261917.3	-	8	4257	c.3264G>A	c.(3262-3264)gcG>gcA	p.A1088A		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1088					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CTGGCTGAGACGCGGAGATGA	0.726													T	73615170	C	T	73615170	2	4	552	1	0	0	0	0	0	0	0	1	7054	523	19	1		1	HCN4	15	73615170	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		73615170	28916222	10	47862											
FBXL16	146330	broad.mit.edu	37	chr16	747263	747265	+	In_Frame_Del	DEL	TGG	TGG	-																															gggtgggtgggggtggtggcTggcaggggcggttcttggtg																										TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr16:747263_747265delTGG	ENST00000397621.1	-	2	472_474	c.141_143delCCA	c.(139-144)tgccag>tgg	p.47_48CQ>W	FBXL16_ENST00000324361.5_In_Frame_Del_p.47_48CQ>W	NM_153350.3	NP_699181.2	Q8N461	FXL16_HUMAN	F-box and leucine-rich repeat protein 16	47	Pro-rich.									endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(3)|ovary(1)	10		Hepatocellular(780;0.0218)				GGGTGGTGGCTGGCAGGGGCGGT	0.729													-	747265	TGG	-	747263	7	5	552	1	0	1	0	1	0	0	0	0	5761	1580	55	0	1316	0	FBXL16	16	747263	In_Frame_Del	DEL	TGG	TCGA-HT-7691-01A-11D-2253-08		747263	89607490	11	47863											
CTNS	1497	broad.mit.edu	37	chr17	3560060	3560060	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcggttgtcctcacgctgAtcatcatcgtgcagtgctgc	6	11	11	13	4	3	1	3	1	0	0	5	1	4	1	1	1	3	4	1	1	0	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:3560060A>G	ENST00000046640.3	+	9	1245	c.652A>G	c.(652-654)Atc>Gtc	p.I218V	CTNS_ENST00000441220.2_Missense_Mutation_p.I110V|CTNS_ENST00000381870.3_Missense_Mutation_p.I218V|RP11-235E17.6_ENST00000575741.1_RNA|CTNS_ENST00000414524.2_Missense_Mutation_p.I71V	NM_004937.2	NP_004928.2	O60931	CTNS_HUMAN	cystinosin, lysosomal cystine transporter	218					ATP metabolic process|brain development|cognition|glutathione metabolic process	integral to membrane|late endosome|lysosomal membrane	L-cystine transmembrane transporter activity			NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)	10				COAD - Colon adenocarcinoma(5;0.0829)	L-Cystine(DB00138)	CCTCACGCTGATCATCATCGT	0.592													G	3560060	A	G	3560060	3	3	552	1	0	0	0	0	1	0	0	0	4054	333	12	3	678	3	CTNS	17	3560060	Missense_Mutation	SNP	A	TCGA-HT-7691-01A-11D-2253-08		3560060	77635150	12	47864											
TMC6	11322	broad.mit.edu	37	chr17	76120700	76120700	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatgatgaaggccaccaGcagcagcagcaggagggcat	12	3	14	12	0	0	2	0	2	0	0	0	3	0	3	3	3	4	5	3	3	1	0			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr17:76120700G>C	ENST00000590602.1	-	8	955	c.796C>G	c.(796-798)Ctg>Gtg	p.L266V	TMC6_ENST00000322914.3_Missense_Mutation_p.L266V|TMC6_ENST00000392467.3_Missense_Mutation_p.L266V|TMC6_ENST00000589553.1_Missense_Mutation_p.L39V|TMC6_ENST00000306591.7_Missense_Mutation_p.L266V|TMC6_ENST00000322933.4_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	266				L -> P (in Ref. 2; AAP69874).		endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			AAGGCCACCAGCAGCAGCAGC	0.672													C	76120700	G	C	76120700	3	2	552	1	0	0	0	0	1	0	0	0	16089	962	34	4	1673	4	TMC6	17	76120700	Missense_Mutation	SNP	G	TCGA-HT-7691-01A-11D-2253-08	72560640	76120700	5074510	13	47865											
IL12RB1	3594	broad.mit.edu	37	chr19	18183118	18183118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taagtgacctccgtgccaggCgccagcccttgacagccttc	7	8	10	16	2	0	2	0	2	0	0	2	2	1	2	6	1	3	0	6	1	1	3	rs141737618		TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr19:18183118C>T	ENST00000600835.2	-	10	1123	c.825G>A	c.(823-825)gcG>gcA	p.A275A	IL12RB1_ENST00000322153.7_Silent_p.A275A|IL12RB1_ENST00000593993.2_Silent_p.A275A			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 3.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CCGTGCCAGGCGCCAGCCCTT	0.587													T	18183118	C	T	18183118	2	4	552	1	0	0	0	0	0	0	0	1	7684	755	27	1		1	IL12RB1	19	18183118	Silent	SNP	C	TCGA-HT-7691-01A-11D-2253-08		18183118	40945865	14	47866											
MCAT	27349	broad.mit.edu	37	chr22	43529209	43529209	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgggggaaccccctgcccTttttcctttcgtatatggca	5	15	9	12	1	0	0	0	0	0	0	2	1	1	1	4	3	2	2	4	3	3	6			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chr22:43529209T>C	ENST00000290429.6	-	4	1058	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				CCCCCTGCCCTTTTTCCTTTC	0.587													C	43529209	T	C	43529209	3	2	552	1	0	0	0	0	1	0	0	0	9447	1609	56	3	163	3	MCAT	22	43529209	Missense_Mutation	SNP	T	TCGA-HT-7691-01A-11D-2253-08		43529209	7775357	15	47867											
FOXR2	139628	broad.mit.edu	37	chrX	55650390	55650390	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaatctgtggatgtgggtGgaccccaatatcctgtgccc	7	10	11	13	0	1	0	0	0	1	0	2	2	2	2	5	3	1	0	5	3	3	1			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:55650390G>A	ENST00000339140.3	+	1	558	c.246G>A	c.(244-246)gtG>gtA	p.V82V		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	82					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						GGATGTGGGTGGACCCCAATA	0.552													A	55650390	G	A	55650390	2	1	552	1	0	0	0	0	0	0	0	1	6083	1335	47	2		2	FOXR2	23	55650390	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08		55650390	99620170	16	47868											
BRWD3	254065	broad.mit.edu	37	chrX	79932312	79932312	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacgtcctgaaaacatGgtatcaaattcatcatctgc	14	11	6	10	1	4	2	3	2	1	0	5	2	5	2	1	1	3	1	1	1	5	2			TCGA-HT-7691-01A-11D-2253-08	TCGA-HT-7691-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd30f39-5200-4c80-957d-a4f3898dd711	2891bd1f-d811-43da-b76f-60eb95191d34	g.chrX:79932312G>A	ENST00000373275.4	-	41	5421	c.5205C>T	c.(5203-5205)acC>acT	p.T1735T		NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1735										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						CTGAAAACATGGTATCAAATT	0.443													A	79932312	G	A	79932312	2	1	552	1	0	0	0	0	0	0	0	1	1535	1335	47	2		2	BRWD3	23	79932312	Silent	SNP	G	TCGA-HT-7691-01A-11D-2253-08	24281922	79932312	75338248	17	47869											
NES	10763	broad.mit.edu	37	chr1	156642351	156642351	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagagacttcagggtttcTttttccaaaggaacctggga	10	11	10	10	0	2	1	1	0	1	1	3	4	3	3	3	3	1	1	3	3	2	4			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:156642351T>C	ENST00000368223.3	-	4	1761	c.1629A>G	c.(1627-1629)aaA>aaG	p.K543K		NM_006617.1	NP_006608.1	P48681	NEST_HUMAN	nestin	543	Tail.				brain development|embryonic camera-type eye development|G2/M transition of mitotic cell cycle|negative regulation of apoptosis|positive regulation of intermediate filament depolymerization|positive regulation of neural precursor cell proliferation|stem cell proliferation	cytoplasm|intermediate filament	intermediate filament binding|structural molecule activity			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(30)|ovary(6)|prostate(1)|skin(3)|stomach(1)|urinary_tract(4)	64	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCAGGGTTTCTTTTTCCAAAG	0.468													C	156642351	T	C	156642351	2	2	553	1	0	0	0	0	0	0	0	1	10413	1606	56	3		3	NES	1	156642351	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		156642351	92608270	1	47870											
HMCN1	83872	broad.mit.edu	37	chr1	185964003	185964003	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtccaagttggtcaaagaGtggatattccatgtaatgct	13	12	10	6	0	1	1	1	0	0	1	3	2	3	2	2	2	1	3	2	2	5	4			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:185964003G>T	ENST00000271588.4	+	24	3791	c.3562G>T	c.(3562-3564)Gtg>Ttg	p.V1188L	HMCN1_ENST00000367492.2_Missense_Mutation_p.V1188L	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1188	Ig-like C2-type 9.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGTCAAAGAGTGGATATTCC	0.413													T	185964003	G	T	185964003	3	4	553	1	0	0	0	0	1	0	0	0	7275	1029	36	4	3656	4	HMCN1	1	185964003	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	29321652	185964003	63286618	2	47871											
OR2C3	81472	broad.mit.edu	37	chr1	247695072	247695072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtaaaacagagacaccaCagccacgtgggaagaacagg	16	2	11	12	2	0	2	0	0	0	2	0	4	0	3	3	2	3	1	3	2	4	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr1:247695072C>T	ENST00000366487.3	-	2	1103	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000527084.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			AGAGACACCACAGCCACGTGG	0.542													T	247695072	C	T	247695072	3	4	553	1	0	0	0	0	1	0	0	0	11069	478	17	2	224	2	OR2C3	1	247695072	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	61731069	247695072	1555549	3	47872											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	553	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		209113112	34086261	4	47873											
PTX3	5806	broad.mit.edu	37	chr3	157154729	157154731	+	In_Frame_Del	DEL	CTC	CTC	-																															gcgtctctccagcaatgcatCtccttgcgattctgttttgt																										TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:157154729_157154731delCTC	ENST00000295927.3	+	1	152_154	c.7_9delCTC	c.(7-9)ctcdel	p.L4del	VEPH1_ENST00000392833.2_Intron|VEPH1_ENST00000543418.1_Intron|VEPH1_ENST00000392832.2_Intron|VEPH1_ENST00000362010.2_Intron	NM_002852.3	NP_002843.2	P26022	PTX3_HUMAN	pentraxin 3, long	4					inflammatory response	extracellular region				central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|stomach(1)	10			Lung(72;0.0272)|LUSC - Lung squamous cell carcinoma(72;0.0461)			AGCAATGCATCTCCTTGCGATTC	0.493													-	157154731	CTC	-	157154729	7	5	553	1	0	1	0	1	0	0	0	0	12910	913	32	0	9	0	PTX3	3	157154729	In_Frame_Del	DEL	CTC	TCGA-HT-7692-01A-12D-2253-08		157154729	40867701	5	47874											
PIK3CA	5290	broad.mit.edu	37	chr3	178936095	178936095	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctgaaatcactgagcAggagaaagattttctatgga	13	12	9	7	0	4	4	1	2	3	2	5	6	4	5	0	2	1	1	0	2	3	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr3:178936095A>G	ENST00000263967.3	+	10	1794	c.1637A>G	c.(1636-1638)cAg>cGg	p.Q546R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	546	PI3K helical.		Q -> E (in cancer).|Q -> K (in cancer).|Q -> P (in cancer).|Q -> R (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.Q546R(30)|p.Q546P(18)|p.Q546L(5)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATCACTGAGCAGGAGAAAGAT	0.363		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178936095	A	G	178936095	3	3	553	1	0	0	0	0	1	0	0	0	11990	188	7	3	1671	3	PIK3CA	3	178936095	Missense_Mutation	SNP	A	TCGA-HT-7692-01A-12D-2253-08	21781366	178936095	19086335	6	47875											
SH3RF1	57630	broad.mit.edu	37	chr4	170017683	170017690	+	Frame_Shift_Del	DEL	ACAAAGCT	ACAAAGCT	-																															agtctcctcatatgttttccAcaaagcttcctgggaaaagg																										TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr4:170017683_170017690delACAAAGCT	ENST00000284637.9	-	12	2988_2995	c.2647_2654delAGCTTTGT	c.(2647-2655)agctttgtgfs	p.SFV883fs		NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	883	SH3 4.					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TATGTTTTCCACAAAGCTTCCTGGGAAA	0.389													-	170017690	ACAAAGCT	-	170017683	7	5	553	1	0	1	0	1	0	0	0	0	14352	159	6	0	16	0	SH3RF1	4	170017683	Frame_Shift_Del	DEL	ACAAAGCT	TCGA-HT-7692-01A-12D-2253-08		170017683	21136593	7	47876											
BNIP1	662	broad.mit.edu	37	chr5	172587005	172587005	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcctcatggggatcagcagGatgatggcccagcaggtcca	10	6	14	11	0	2	1	2	1	0	0	3	3	3	3	3	5	3	2	3	5	0	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr5:172587005G>A	ENST00000231668.9	+	6	674	c.570G>A	c.(568-570)agG>agA	p.R190R	BNIP1_ENST00000351486.5_Silent_p.R147R|BNIP1_ENST00000352523.6_Silent_p.R156R|BNIP1_ENST00000393770.4_Silent_p.R113R	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	147					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GGATCAGCAGGATGATGGCCC	0.562													A	172587005	G	A	172587005	2	1	553	1	0	0	0	0	0	0	0	1	1482	1165	41	2		2	BNIP1	5	172587005	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08		172587005	8328255	8	47877											
MAGI2	9863	broad.mit.edu	37	chr7	77885556	77885556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtcatcatggacgggcGgtggatacgtgccgtctagc	7	10	14	10	4	3	0	2	0	1	0	3	2	3	2	1	4	3	0	1	4	2	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr7:77885556G>A	ENST00000354212.4	-	10	2004	c.1751C>T	c.(1750-1752)cCg>cTg	p.P584L	MAGI2_ENST00000536571.1_Missense_Mutation_p.P416L|MAGI2_ENST00000535697.1_Missense_Mutation_p.P421L|MAGI2_ENST00000419488.1_Missense_Mutation_p.P584L|MAGI2_ENST00000522391.1_Missense_Mutation_p.P584L	NM_012301.3	NP_036433.2	Q86UL8	MAGI2_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 2	584						cell junction|synapse|synaptosome	phosphatase binding	p.P584L(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(37)|ovary(5)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(3)	84		all_cancers(73;0.0064)|all_epithelial(88;0.087)|all_neural(109;0.0936)|Medulloblastoma(109;0.166)|Melanoma(862;0.236)				ATGGACGGGCGGTGGATACGT	0.527													A	77885556	G	A	77885556	3	1	553	1	0	0	0	0	1	0	0	0	9266	1116	39	1	2668	1	MAGI2	7	77885556	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		77885556	81253107	9	47878											
BAI1	575	broad.mit.edu	37	chr8	143623472	143623472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacctgcacggctcacccCgctatcccggcgggcccctg	4	6	11	20	4	1	0	1	0	0	0	2	0	2	0	6	3	2	4	6	3	1	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr8:143623472C>T	ENST00000517894.1	+	28	4771	c.3877C>T	c.(3877-3879)Cgc>Tgc	p.R1293C	BAI1_ENST00000323289.5_Missense_Mutation_p.R1293C			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1293					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CGGCTCACCCCGCTATCCCGG	0.652													T	143623472	C	T	143623472	3	4	553	1	0	0	0	0	1	0	0	0	1303	652	23	1	3983	1	BAI1	8	143623472	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		143623472	2740550	10	47879											
FBXO18	84893	broad.mit.edu	37	chr10	5979128	5979128	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccactcctgtgcggagcagcGcatcgggcccctggcgttcc	4	7	13	17	4	0	0	0	0	0	0	3	1	2	1	5	3	3	3	5	3	0	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:5979128G>A	ENST00000379999.5	+	22	3274	c.3170G>A	c.(3169-3171)cGc>cAc	p.R1057H	RP11-536K7.3_ENST00000397264.4_RNA|FBXO18_ENST00000362091.4_Missense_Mutation_p.R1006H|FBXO18_ENST00000397269.3_Missense_Mutation_p.R510H	NM_032807.4	NP_116196.3	Q8NFZ0	FBX18_HUMAN	F-box protein, helicase, 18	1006					DNA repair	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|breast(2)|kidney(2)|large_intestine(16)|lung(9)|ovary(2)|prostate(3)|skin(3)|stomach(1)	40						GCGGAGCAGCGCATCGGGCCC	0.622													A	5979128	G	A	5979128	3	1	553	1	0	0	0	0	1	0	0	0	5780	1087	38	1	3261	1	FBXO18	10	5979128	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		5979128	129555619	11	47880											
FGFR2	2263	broad.mit.edu	37	chr10	123256167	123256167	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagtactccatcccgggtGgcctccgggctcggaggtat	6	8	15	12	3	0	0	0	0	0	0	4	2	3	2	4	6	1	3	4	6	2	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr10:123256167G>T	ENST00000358487.5	-	13	2014	c.1742C>A	c.(1741-1743)cCa>cAa	p.P581Q	FGFR2_ENST00000357555.5_Missense_Mutation_p.P492Q|FGFR2_ENST00000369060.4_Missense_Mutation_p.P465Q|FGFR2_ENST00000369061.4_Missense_Mutation_p.P469Q|FGFR2_ENST00000478859.1_Missense_Mutation_p.P353Q|FGFR2_ENST00000360144.3_Missense_Mutation_p.P493Q|FGFR2_ENST00000457416.2_Missense_Mutation_p.P582Q|FGFR2_ENST00000351936.6_Missense_Mutation_p.P579Q|FGFR2_ENST00000346997.2_Missense_Mutation_p.P579Q|FGFR2_ENST00000369059.1_Missense_Mutation_p.P467Q|FGFR2_ENST00000356226.4_Missense_Mutation_p.P464Q|FGFR2_ENST00000369056.1_Missense_Mutation_p.P582Q	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	581	Protein kinase.				angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)	CATCCCGGGTGGCCTCCGGGC	0.532		5	Mis		"gastric. NSCLC, endometrial"		"Crouzon, Pfeiffer, and Apert syndromes"		Saethre-Chotzen syndrome;Apert syndrome				T	123256167	G	T	123256167	3	4	553	1	0	0	0	0	1	0	0	0	5915	1348	47	4	851	4	FGFR2	10	123256167	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	117277039	123256167	12278580	12	47881											
MUC5B	727897	broad.mit.edu	37	chr11	1270916	1270916	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactggatccacggccacccCgtcctccaccccgggaacag	8	4	9	20	3	0	0	0	0	0	0	3	2	3	2	8	3	1	0	8	3	1	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:1270916C>T	ENST00000447027.1	+	31	12873	c.12815C>T	c.(12814-12816)cCg>cTg	p.P4272L	MUC5B_ENST00000529681.1_Missense_Mutation_p.P4269L			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4269	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ACGGCCACCCCGTCCTCCACC	0.642													T	1270916	C	T	1270916	3	4	553	1	0	0	0	0	1	0	0	0	10055	652	23	1	12937	1	MUC5B	11	1270916	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08		1270916	133735600	13	47882											
SAA4	6291	broad.mit.edu	37	chr11	18253209	18253209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgaagatagaccctggaaCggctgcaacccaaagaaagg	15	4	11	11	1	0	4	0	1	0	3	0	5	0	5	3	3	3	2	3	3	6	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:18253209C>T	ENST00000278222.4	-	4	413	c.233G>A	c.(232-234)cGt>cAt	p.R78H	SAA2-SAA4_ENST00000524555.1_RNA	NM_006512.3	NP_006503.2			serum amyloid A4, constitutive											haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(1)|stomach(1)	13						GACCCTGGAACGGCTGCAACC	0.488													T	18253209	C	T	18253209	3	4	553	1	0	0	0	0	1	0	0	0	13891	536	19	1	163	1	SAA4	11	18253209	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	16982293	18253209	116753307	14	47883											
OR4A15	81328	broad.mit.edu	37	chr11	55136117	55136118	+	Frame_Shift_Del	DEL	TT	TT	-																															tggggtcatattacactctcTtaagactcagagtttggaag																										TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:55136117_55136118delTT	ENST00000314706.3	+	1	758_759	c.758_759delTT	c.(757-759)cttfs	p.L253fs		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	253					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTACACTCTCTTAAGACTCAGA	0.436													-	55136118	TT	-	55136117	7	5	553	1	0	1	0	1	0	0	0	0	11116	1609	56	0	760	0	OR4A15	11	55136117	Frame_Shift_Del	DEL	TT	TCGA-HT-7692-01A-12D-2253-08	36882908	55136117	79870399	15	47884											
OR5A1	219982	broad.mit.edu	37	chr11	59211422	59211422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttgggacagcccttttcGtgtacttgcgacccagctcc	5	13	10	13	2	0	0	0	0	0	0	2	2	1	1	3	1	4	3	3	1	1	5			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:59211422G>A	ENST00000302030.2	+	1	806	c.781G>A	c.(781-783)Gtg>Atg	p.V261M		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						AGCCCTTTTCGTGTACTTGCG	0.537													A	59211422	G	A	59211422	3	1	553	1	0	0	0	0	1	0	0	0	11215	1145	40	1	783	1	OR5A1	11	59211422	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4075305	59211422	75795094	16	47885											
SUV420H1	51111	broad.mit.edu	37	chr11	67941292	67941292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcttttgttgcaactattTtggctccattttgttctgat	6	21	6	8	0	2	1	0	1	2	0	3	1	3	1	1	1	2	4	1	1	2	9			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:67941292T>C	ENST00000304363.4	-	6	985	c.632A>G	c.(631-633)aAa>aGa	p.K211R	SUV420H1_ENST00000405515.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402789.1_Missense_Mutation_p.K211R|SUV420H1_ENST00000402185.2_Missense_Mutation_p.K188R|SUV420H1_ENST00000401547.2_Missense_Mutation_p.K211R	NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	211	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						TGCAACTATTTTGGCTCCATT	0.299													C	67941292	T	C	67941292	3	2	553	1	0	0	0	0	1	0	0	0	15510	1841	64	3	2057	3	SUV420H1	11	67941292	Missense_Mutation	SNP	T	TCGA-HT-7692-01A-12D-2253-08	8729870	67941292	67065224	17	47886											
OR10G8	219869	broad.mit.edu	37	chr11	123901193	123901193	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaccctgttgtgtacacCctgaggaacaaggaggtgaa	12	8	11	10	0	1	2	1	2	0	0	1	4	1	4	2	3	3	2	2	3	5	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr11:123901193C>T	ENST00000431524.1	+	1	897	c.864C>T	c.(862-864)acC>acT	p.T288T		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTGTGTACACCCTGAGGAACA	0.468													T	123901193	C	T	123901193	2	4	553	1	0	0	0	0	0	0	0	1	10979	610	22	2		2	OR10G8	11	123901193	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08	55959901	123901193	11105323	18	47887											
NAV3	89795	broad.mit.edu	37	chr12	78591057	78591057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aatatctagctaacctggctGaacagtgcagtgctgataat	13	11	9	8	0	1	2	0	2	1	0	1	2	1	2	1	1	5	4	1	1	6	4			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr12:78591057G>A	ENST00000397909.2	+	35	6495	c.6322G>A	c.(6322-6324)Gaa>Aaa	p.E2108K	NAV3_ENST00000228327.6_Missense_Mutation_p.E2086K|NAV3_ENST00000536525.2_Missense_Mutation_p.E2086K|NAV3_ENST00000266692.7_Missense_Mutation_p.E1909K			Q8IVL0	NAV3_HUMAN	neuron navigator 3	2108						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						TAACCTGGCTGAACAGTGCAG	0.338										HNSCC(70;0.22)			A	78591057	G	A	78591057	3	1	553	1	0	0	0	0	1	0	0	0	10261	1291	45	2	6390	2	NAV3	12	78591057	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		78591057	55260838	19	47888											
DISP2	85455	broad.mit.edu	37	chr15	40656656	40656656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgagtggccagtggccGtgctgatgctgtgtctggct	3	13	16	9	1	1	2	0	2	1	0	1	2	1	2	2	3	3	4	2	3	0	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr15:40656656G>A	ENST00000267889.3	+	4	601	c.514G>A	c.(514-516)Gtg>Atg	p.V172M		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	172					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		GCCAGTGGCCGTGCTGATGCT	0.602													A	40656656	G	A	40656656	3	1	553	1	0	0	0	0	1	0	0	0	4579	1145	40	1	528	1	DISP2	15	40656656	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08		40656656	61874736	20	47889											
SHBG	6462	broad.mit.edu	37	chr17	7535330	7535330	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtctccacctccaagaTcaagtaaagggggacagtgg	12	7	11	11	0	3	1	2	0	1	1	5	2	4	2	3	3	0	1	3	3	4	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:7535330T>C	ENST00000380450.4	+	6	880	c.849T>C	c.(847-849)gaT>gaC	p.D283D	SHBG_ENST00000570547.1_Intron|SHBG_ENST00000572182.1_Intron|SHBG_ENST00000441599.2_Intron|SHBG_ENST00000340624.5_Silent_p.D225D|SHBG_ENST00000575903.1_Silent_p.D265D|SHBG_ENST00000576478.1_Intron|SHBG_ENST00000576728.1_Silent_p.D171D|SHBG_ENST00000575314.1_Silent_p.D225D|SHBG_ENST00000572262.1_Silent_p.D171D|SHBG_ENST00000574539.1_Silent_p.D225D|SHBG_ENST00000416273.3_Silent_p.D283D	NM_001040.3	NP_001031.2	P04278	SHBG_HUMAN	sex hormone-binding globulin	283	Laminin G-like 2.				hormone transport	extracellular region	androgen binding|protein homodimerization activity	p.0?(1)|p.?(1)		cervix(1)|endometrium(2)|large_intestine(4)|lung(2)|skin(1)	10		all_cancers(10;0.0867)		READ - Rectum adenocarcinoma(115;0.168)	Danazol(DB01406)|Dromostanolone(DB00858)|Estradiol(DB00783)|Estrone(DB00655)|Fluoxymesterone(DB01185)|Hydrocortisone(DB00741)|Mitotane(DB00648)|Norethindrone(DB00717)|Testosterone(DB00624)	ACCTCCAAGATCAAGTAAAGG	0.542													C	7535330	T	C	7535330	2	2	553	1	0	0	0	0	0	0	0	1	14363	1432	50	3		3	SHBG	17	7535330	Silent	SNP	T	TCGA-HT-7692-01A-12D-2253-08		7535330	73659880	21	47890											
TNFRSF13B	23495	broad.mit.edu	37	chr17	16852148	16852148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actccgctgtctcctgagctCtggtggaaggttcactgggc	5	11	13	12	1	3	1	1	1	2	0	5	2	4	2	2	4	1	3	2	4	1	1			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr17:16852148C>T	ENST00000437538.2	-	2	219	c.211G>A	c.(211-213)Gag>Aag	p.E71K	TNFRSF13B_ENST00000581616.2_5'UTR|TNFRSF13B_ENST00000261652.2_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000579315.1_Missense_Mutation_p.E117K|TNFRSF13B_ENST00000583789.1_Missense_Mutation_p.E71K			O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	117					cell surface receptor linked signaling pathway	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CTCCTGAGCTCTGGTGGAAGG	0.522									IgA Deficiency, Selective				T	16852148	C	T	16852148	3	4	553	1	0	0	0	0	1	0	0	0	16387	922	32	2	544	2	TNFRSF13B	17	16852148	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	9316818	16852148	64343062	22	47891											
OR7D2	162998	broad.mit.edu	37	chr19	9296887	9296887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acccccacctctgtggcctcCtggtttttgtcacctggctc	3	13	8	17	0	2	0	1	0	1	0	4	0	3	0	6	3	0	2	6	3	0	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:9296887C>T	ENST00000344248.2	+	1	609	c.430C>T	c.(430-432)Ctg>Ttg	p.L144L		NM_175883.2	NP_787079.1	Q96RA2	OR7D2_HUMAN	olfactory receptor, family 7, subfamily D, member 2	144					regulation of transcription, DNA-dependent|sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	20						CTGTGGCCTCCTGGTTTTTGT	0.478													T	9296887	C	T	9296887	2	4	553	1	0	0	0	0	0	0	0	1	11295	680	24	2		2	OR7D2	19	9296887	Silent	SNP	C	TCGA-HT-7692-01A-12D-2253-08		9296887	49832096	23	47892											
PPAN	56342	broad.mit.edu	37	chr19	10224314	10224314	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctgcccacaggtgccAagtcctgccctgccaacttc	7	9	7	18	0	1	0	0	0	1	0	3	0	2	0	6	1	5	0	6	1	2	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10224314A>T	ENST00000556468.1	+	13	1312	c.1285A>T	c.(1285-1287)Aag>Tag	p.K429*	PPAN-P2RY11_ENST00000393796.4_Nonsense_Mutation_p.K429*|P2RY11_ENST00000471843.1_3'UTR|P2RY11_ENST00000321826.4_Nonsense_Mutation_p.K9*|PPAN-P2RY11_ENST00000428358.1_Silent_p.P449P					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			CACAGGTGCCAAGTCCTGCCC	0.617											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	10224314	A	T	10224314	4	4	553	1	0	0	0	0	0	1	0	0	12365	131	5	5		5	PPAN	19	10224314	Nonsense_Mutation	SNP	A	TCGA-HT-7692-01A-12D-2253-08	927427	10224314	48904669	24	47893											
FDX1L	112812	broad.mit.edu	37	chr19	10421614	10421614	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccagggaggcttcacaggCccctaggggtgggaagtgaa	9	5	18	9	0	1	1	1	1	0	0	1	3	1	3	3	7	0	1	3	7	3	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr19:10421614C>T	ENST00000452032.2	-	4	322	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	FDX1L_ENST00000393708.3_Missense_Mutation_p.A104T|FDX1L_ENST00000492239.1_5'UTR|FDX1L_ENST00000494368.1_5'UTR|FDX1L_ENST00000541276.1_Missense_Mutation_p.A107T																							GCTTCACAGGCCCCTAGGGGT	0.617													T	10421614	C	T	10421614	3	4	553	1	0	0	0	0	1	0	0	0	5854	739	26	2	249	2	FDX1L	19	10421614	Missense_Mutation	SNP	C	TCGA-HT-7692-01A-12D-2253-08	197300	10421614	48707369	25	47894											
SLC4A11	83959	broad.mit.edu	37	chr20	3209830	3209830	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccgaggcccatggcaccGctgacggccctcagggacag	9	3	14	15	3	1	1	1	1	0	0	1	3	1	2	4	4	1	2	4	4	1	0			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:3209830G>A	ENST00000380059.3	-	16	2159	c.2058C>T	c.(2056-2058)agC>agT	p.S686S	SLC4A11_ENST00000380056.3_Silent_p.S659S|SLC4A11_ENST00000488544.1_5'UTR|SLC4A11_ENST00000539553.2_Silent_p.S643S	NM_001174090.1	NP_001167561.1	Q8NBS3	S4A11_HUMAN	solute carrier family 4, sodium borate transporter, member 11	659	Membrane (bicarbonate transporter).				cellular cation homeostasis|fluid transport|phosphoenolpyruvate-dependent sugar phosphotransferase system	basolateral plasma membrane|integral to membrane	bicarbonate transmembrane transporter activity|borate transmembrane transporter activity|hydrogen ion channel activity|inorganic anion exchanger activity|sodium channel activity|sugar:hydrogen symporter activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(4)|soft_tissue(1)|urinary_tract(1)	40						CCATGGCACCGCTGACGGCCC	0.617													A	3209830	G	A	3209830	2	1	553	1	0	0	0	0	0	0	0	1	14746	1078	38	1		1	SLC4A11	20	3209830	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08		3209830	59815690	26	47895											
CSRP2BP	57325	broad.mit.edu	37	chr20	18168088	18168088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtaaacacgcattctttctGaggctccggcgctgatgcga	8	11	11	11	4	2	2	0	2	2	0	3	3	3	2	1	2	2	4	1	2	2	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:18168088G>A	ENST00000435364.3	+	10	2675	c.2334G>A	c.(2332-2334)ctG>ctA	p.L778L	CSRP2BP_ENST00000489634.2_Silent_p.L650L|CSRP2BP_ENST00000377681.3_Silent_p.L777L	NM_020536.4	NP_065397	Q9H8E8	CSR2B_HUMAN	CSRP2 binding protein		N-acetyltransferase.				histone H3 acetylation	Ada2/Gcn5/Ada3 transcription activator complex|cytoplasm	LIM domain binding|N-acetyltransferase activity			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|stomach(1)	34						CATTCTTTCTGAGGCTCCGGC	0.413													A	18168088	G	A	18168088	2	1	553	1	0	0	0	0	0	0	0	1	4001	1277	45	2		2	CSRP2BP	20	18168088	Silent	SNP	G	TCGA-HT-7692-01A-12D-2253-08	14958258	18168088	44857432	27	47896											
FOXA2	3170	broad.mit.edu	37	chr20	22562677	22562677	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtccattttgtggggttgGtggtggtggtggctgtggtg	2	15	21	3	0	0	0	0	0	0	0	1	0	1	0	1	9	0	2	1	9	0	3			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr20:22562677G>C	ENST00000419308.2	-	2	1387	c.1203C>G	c.(1201-1203)caC>caG	p.H401Q	FOXA2_ENST00000377115.4_Missense_Mutation_p.H395Q	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	401	Transactivation domain 2 (By similarity).				cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					TGTGGGGTtggtggtggtggt	0.612													C	22562677	G	C	22562677	3	2	553	1	0	0	0	0	1	0	0	0	6039	1252	44	4	192	4	FOXA2	20	22562677	Missense_Mutation	SNP	G	TCGA-HT-7692-01A-12D-2253-08	4394589	22562677	40462843	28	47897											
SLC5A3	6526	broad.mit.edu	37	chr21	35468232	35468232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtaatgtctcccctaagaaAgaagccctgaaaatgctgcg	13	9	9	10	1	1	3	0	1	1	2	2	3	1	3	3	0	3	2	3	0	6	2			TCGA-HT-7692-01A-12D-2253-08	TCGA-HT-7692-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eaa6dbfa-6641-4162-a34d-6718781793bc	4a5299fe-a61f-4e0d-9e89-bc7874cff10e	g.chr21:35468232A>G	ENST00000608209.1	+	2	1247	c.735A>G	c.(733-735)aaA>aaG	p.K245K	AP000320.7_ENST00000362077.4_RNA|MRPS6_ENST00000399312.2_Intron|SLC5A3_ENST00000381151.3_Silent_p.K245K	NM_006933.4	NP_008864.3	P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3							integral to plasma membrane	myo-inositol:sodium symporter activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						CCCCTAAGAAAGAAGCCCTGA	0.453													G	35468232	A	G	35468232	2	3	553	1	0	0	0	0	0	0	0	1	14760	69	3	3		3	SLC5A3	21	35468232	Silent	SNP	A	TCGA-HT-7692-01A-12D-2253-08		35468232	12661663	29	47898											
KLHDC7A	127707	broad.mit.edu	37	chr1	18808237	18808237	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctgcatcagcaggagggCgcccccaactcctcctatac	9	6	8	18	1	1	0	1	0	0	0	3	1	3	1	5	2	4	2	5	2	3	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:18808237C>T	ENST00000400664.1	+	1	814	c.762C>T	c.(760-762)ggC>ggT	p.G254G		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	254						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		AGCAGGAGGGCGCCCCCAACT	0.612													T	18808237	C	T	18808237	2	4	554	1	0	0	0	0	0	0	0	1	8418	755	27	1		1	KLHDC7A	1	18808237	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		18808237	230442384	1	47899											
OR6N2	81442	broad.mit.edu	37	chr1	158747181	158747181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcactgagaatattagacAacatcttagggatagtggta	14	12	9	6	0	2	2	1	1	2	2	3	4	2	3	0	2	1	1	0	2	7	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:158747181A>G	ENST00000339258.1	-	1	244	c.245T>C	c.(244-246)tTg>tCg	p.L82S		NM_001005278.1	NP_001005278.1	Q8NGY6	OR6N2_HUMAN	olfactory receptor, family 6, subfamily N, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(112;0.0378)					AATATTAGACAACATCTTAGG	0.448													G	158747181	A	G	158747181	3	3	554	1	0	0	0	0	1	0	0	0	11283	131	5	3	711	3	OR6N2	1	158747181	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	139938944	158747181	90503440	2	47900											
SELE	6401	broad.mit.edu	37	chr1	169699643	169699643	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtctccatgctgcttggCaggtaacccctatcacagct	8	11	9	13	0	2	0	1	0	1	0	3	0	2	0	3	3	4	5	3	3	2	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr1:169699643C>A	ENST00000333360.7	-	5	784	c.645G>T	c.(643-645)ctG>ctT	p.L215L	SELE_ENST00000367782.4_Silent_p.L215L|SELE_ENST00000367775.1_Intron|SELE_ENST00000367781.4_Silent_p.L215L|SELE_ENST00000367777.1_Silent_p.L215L|SELE_ENST00000367776.1_Silent_p.L215L|SELE_ENST00000367780.4_Intron|C1orf112_ENST00000498289.1_Intron|SELE_ENST00000367774.1_Silent_p.L215L|SELE_ENST00000367779.4_Silent_p.L215L	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	215	Sushi 1.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TGCTGCTTGGCAGGTAACCCC	0.512													A	169699643	C	A	169699643	2	1	554	1	0	0	0	0	0	0	0	1	14106	697	25	4		4	SELE	1	169699643	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08	10952462	169699643	79550978	3	47901											
COLEC11	78989	broad.mit.edu	37	chr2	3691639	3691639	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggagatggtggcctcgggCggctggaacgacgtggcctg	5	7	20	9	4	0	1	0	0	0	1	1	4	0	2	2	7	1	1	2	7	1	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:3691639C>T	ENST00000403096.3	+	6	1160	c.669C>T	c.(667-669)ggC>ggT	p.G223G	COLEC11_ENST00000382062.2_Silent_p.G225G|COLEC11_ENST00000402922.1_Silent_p.G199G|COLEC11_ENST00000349077.4_Silent_p.G249G|COLEC11_ENST00000402794.1_Silent_p.G199G|COLEC11_ENST00000236693.7_Silent_p.G246G|COLEC11_ENST00000404205.1_Silent_p.G175G|COLEC11_ENST00000487365.1_3'UTR|COLEC11_ENST00000418971.2_Silent_p.G263G	NM_001255986.1	NP_001242915.1	Q9BWP8	COL11_HUMAN	collectin sub-family member 11	249	C-type lectin.					collagen	mannose binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|soft_tissue(1)	22	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.127)		TGGCCTCGGGCGGCTGGAACG	0.617													T	3691639	C	T	3691639	2	4	554	1	0	0	0	0	0	0	0	1	3742	755	27	1		1	COLEC11	2	3691639	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		3691639	239507734	4	47902											
XDH	7498	broad.mit.edu	37	chr2	31589846	31589846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagaagtgctcttggccacCgatgtatatctcccctgggg	7	11	12	11	1	2	1	0	0	2	1	3	2	2	1	4	3	1	3	4	3	4	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:31589846C>T	ENST00000379416.3	-	21	2260	c.2212G>A	c.(2212-2214)Ggt>Agt	p.G738S		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	738					purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)	TCTTGGCCACCGATGTATATC	0.537													T	31589846	C	T	31589846	3	4	554	1	0	0	0	0	1	0	0	0	17528	652	23	1	1853	1	XDH	2	31589846	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	27898207	31589846	211609527	5	47903											
STEAP3	55240	broad.mit.edu	37	chr2	120003112	120003112	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agccactgatcagcctccacCtggtggacagcgatagtagc	10	7	11	13	1	1	1	1	1	0	0	2	3	2	2	4	2	4	1	4	2	2	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:120003112C>A	ENST00000354888.5	+	3	544	c.40C>A	c.(40-42)Ctg>Atg	p.L14M	STEAP3_ENST00000450943.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393107.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393106.2_Missense_Mutation_p.L14M|STEAP3_ENST00000409811.1_Missense_Mutation_p.L14M|STEAP3_ENST00000425223.2_Missense_Mutation_p.L14M|STEAP3-AS1_ENST00000454260.1_RNA|STEAP3_ENST00000393108.2_Missense_Mutation_p.L14M|STEAP3_ENST00000393110.2_Missense_Mutation_p.L24M	NM_182915.2	NP_878919.2	Q658P3	STEA3_HUMAN	STEAP family member 3, metalloreductase	14					apoptosis|cell cycle|cellular iron ion homeostasis|protein secretion|transferrin transport|transmembrane transport	endosome membrane|integral to membrane|multivesicular body	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	17						CAGCCTCCACCTGGTGGACAG	0.612													A	120003112	C	A	120003112	3	1	554	1	0	0	0	0	1	0	0	0	15375	680	24	4	76	4	STEAP3	2	120003112	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	88413266	120003112	123196261	6	47904											
LRP2	4036	broad.mit.edu	37	chr2	170026253	170026253	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catccaaacagtcagcggatCcatcgcatttcagttcactg	11	10	7	13	2	3	0	3	0	0	0	6	1	5	1	2	1	2	2	2	1	1	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:170026253C>A	ENST00000263816.3	-	60	11741	c.11456G>T	c.(11455-11457)gGa>gTa	p.G3819V		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3819	LDL-receptor class A 33.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCAGCGGATCCATCGCATTT	0.428													A	170026253	C	A	170026253	3	1	554	1	0	0	0	0	1	0	0	0	9026	855	30	4	2591	4	LRP2	2	170026253	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	50023141	170026253	73173120	7	47905											
HOXD3	3232	broad.mit.edu	37	chr2	177033896	177033896	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcctgagtgcacaatgcaGaaggctgcttactatgaaaa	13	10	9	9	0	0	3	0	2	0	1	1	3	1	3	1	1	4	4	1	1	6	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:177033896G>A	ENST00000468418.3	+	3	2144	c.54G>A	c.(52-54)caG>caA	p.Q18Q	HOXD3_ENST00000249440.3_Silent_p.Q18Q|HOXD3_ENST00000410016.1_Silent_p.Q18Q			P31249	HXD3_HUMAN	homeobox D3	18					anterior/posterior pattern formation|cartilage development|cell-matrix adhesion|embryonic skeletal system morphogenesis|Notch signaling pathway|positive regulation of gene expression|positive regulation of neuron differentiation|thyroid gland development		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00569)|Epithelial(96;0.0864)|all cancers(119;0.226)	Colorectal(32;0.247)		GCACAATGCAGAAGGCTGCTT	0.527													A	177033896	G	A	177033896	2	1	554	1	0	0	0	0	0	0	0	1	7378	933	33	2		2	HOXD3	2	177033896	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08	7007643	177033896	66165477	8	47906											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	554	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	32079217	209113113	34086260	9	47907											
CDCP1	64866	broad.mit.edu	37	chr3	45152168	45152168	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgctcctccttcctctcaCagttggagaggttgaagttg	6	12	10	13	1	1	2	1	1	1	1	5	3	4	2	4	2	0	4	4	2	1	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:45152168C>G	ENST00000296129.1	-	4	955	c.821G>C	c.(820-822)tGt>tCt	p.C274S	CDCP1_ENST00000425231.2_Missense_Mutation_p.C274S	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	274						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		CTTCCTCTCACAGTTGGAGAG	0.592													G	45152168	C	G	45152168	3	3	554	1	0	0	0	0	1	0	0	0	3123	478	17	4	1721	4	CDCP1	3	45152168	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		45152168	152870262	10	47908											
FYCO1	79443	broad.mit.edu	37	chr3	46023170	46023170	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttagttctgtcacagcatcTttaagacaacaaataggaac	15	11	6	9	0	3	1	1	0	2	1	3	2	3	2	0	1	3	2	0	1	6	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:46023170T>C	ENST00000296137.2	-	3	261		c.e3-2		FYCO1_ENST00000535325.1_Splice_Site	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1						transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		TCACAGCATCTTTAAGACAAC	0.408													C	46023170	T	C	46023170	5	2	554	1	0	0	0	0	0	0	1	0	6177	1623	56	3	4446	3	FYCO1	3	46023170	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08	871002	46023170	151999260	11	47909											
PHF7	51533	broad.mit.edu	37	chr3	52454349	52454349	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgctttgtgtgcaagaaaaAgggagctgctatcaactgcc	11	10	11	9	0	1	1	1	0	0	1	1	2	1	2	1	1	6	4	1	1	5	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:52454349A>G	ENST00000327906.3	+	6	971	c.311A>G	c.(310-312)aAg>aGg	p.K104R	PHF7_ENST00000347025.2_Missense_Mutation_p.K104R	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	104						nucleus	zinc ion binding			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TGCAAGAAAAAGGGAGCTGCT	0.453													G	52454349	A	G	52454349	3	3	554	1	0	0	0	0	1	0	0	0	11916	72	3	3	329	3	PHF7	3	52454349	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	6431179	52454349	145568081	12	47910											
EPHA3	2042	broad.mit.edu	37	chr3	89480429	89480429	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggaacatcttgatcaacAgtaacttggtgtgtaaggtt	11	13	10	7	1	2	1	1	1	1	0	3	2	2	2	0	3	3	3	0	3	4	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr3:89480429A>G	ENST00000336596.2	+	13	2491	c.2266A>G	c.(2266-2268)Agt>Ggt	p.S756G	EPHA3_ENST00000494014.1_Missense_Mutation_p.S756G	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	756	Protein kinase.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CTTGATCAACAGTAACTTGGT	0.478										TSP Lung(6;0.00050)			G	89480429	A	G	89480429	3	3	554	1	0	0	0	0	1	0	0	0	5209	188	7	3	2342	3	EPHA3	3	89480429	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	37026080	89480429	108542001	13	47911											
SULT1E1	6783	broad.mit.edu	37	chr4	70709895	70709895	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccctttctcatgaagggCgacaatttctggttcataat	10	14	7	10	1	4	1	3	1	2	0	5	2	4	1	1	2	0	1	1	2	3	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr4:70709895C>T	ENST00000226444.3	-	7	868	c.756G>A	c.(754-756)tcG>tcA	p.S252S		NM_005420.2	NP_005411.1	P49888	ST1E1_HUMAN	sulfotransferase family 1E, estrogen-preferring, member 1	252					3'-phosphoadenosine 5'-phosphosulfate metabolic process|sulfation|xenobiotic metabolic process	cytosol|nuclear membrane	estrone sulfotransferase activity|flavonol 3-sulfotransferase activity|steroid binding|steroid sulfotransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						TCATGAAGGGCGACAATTTCT	0.393													T	70709895	C	T	70709895	2	4	554	1	0	0	0	0	0	0	0	1	15476	755	27	1		1	SULT1E1	4	70709895	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		70709895	120444381	14	47912											
GPR98	84059	broad.mit.edu	37	chr5	90106491	90106491	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggatatttccttcccCgagacaactgtggctgtagc	9	11	11	10	1	0	1	0	0	0	1	2	4	2	3	3	3	2	2	3	3	4	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:90106491C>T	ENST00000405460.2	+	74	15510	c.15414C>T	c.(15412-15414)ccC>ccT	p.P5138P	GPR98_ENST00000425867.2_Silent_p.P799P	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5138					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTCCTTCCCCGAGACAACTG	0.448													T	90106491	C	T	90106491	2	4	554	1	0	0	0	0	0	0	0	1	6776	639	23	1		1	GPR98	5	90106491	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		90106491	90808769	15	47913											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631898	101631898	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggagggcgacgcagaCaagcggcgcaggatgtctgg	9	6	18	8	4	1	1	0	0	1	1	1	4	1	3	0	5	1	2	0	5	1	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:101631898C>G	ENST00000310954.6	-	1	355	c.69G>C	c.(67-69)ttG>ttC	p.L23F		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	23					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GCGACGCAGACAAGCGGCGCA	0.577													G	101631898	C	G	101631898	3	3	554	1	0	0	0	0	1	0	0	0	14824	477	17	4	2157	4	SLCO4C1	5	101631898	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	11525407	101631898	79283362	16	47914											
TRIM41	90933	broad.mit.edu	37	chr5	180651435	180651435	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggaggaggaggacctgAggggggaggatgaggaggac	12	3	22	4	0	0	2	0	2	0	0	0	10	0	10	1	10	0	0	1	10	0	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr5:180651435A>T	ENST00000315073.5	+	1	1146	c.436A>T	c.(436-438)Agg>Tgg	p.R146W	TRIM41_ENST00000351937.5_Missense_Mutation_p.R146W	NM_033549.4	NP_291027.3	Q8WV44	TRI41_HUMAN	tripartite motif containing 41	146	Glu-rich.					cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(3)|prostate(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;9.17e-06)|all_epithelial(37;1.19e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.000209)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_lung(500;0.0221)|all_hematologic(541;0.0433)|Lung NSC(249;0.132)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ggaggacctgaggggggagga	0.627													T	180651435	A	T	180651435	3	4	554	1	0	0	0	0	1	0	0	0	16617	295	11	5	438	5	TRIM41	5	180651435	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	79019537	180651435	263825	17	47915											
FILIP1	27145	broad.mit.edu	37	chr6	76024718	76024718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgagcttctcttcttctTccctcagcttctgagtaaga	6	17	6	12	0	5	3	1	2	4	1	7	3	6	3	1	0	2	3	1	0	1	7			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:76024718T>C	ENST00000393004.2	-	5	1051	c.830A>G	c.(829-831)gAa>gGa	p.E277G	FILIP1_ENST00000370020.1_Missense_Mutation_p.E178G|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000237172.7_Missense_Mutation_p.E277G			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	277										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						CTCTTCTTCTTCCCTCAGCTT	0.423													C	76024718	T	C	76024718	3	2	554	1	0	0	0	0	1	0	0	0	5943	1783	62	3	2819	3	FILIP1	6	76024718	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		76024718	95090349	18	47916											
LPA	4018	broad.mit.edu	37	chr6	161016555	161016555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctggattcctgcagtagttCctggtcaggccactgcaaat	8	12	10	11	0	2	0	1	0	1	0	4	1	4	1	3	3	2	4	3	3	2	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr6:161016555C>G	ENST00000447678.1	-	22	3420	c.3300G>C	c.(3298-3300)agG>agC	p.R1100S	LPA_ENST00000316300.5_Missense_Mutation_p.R1100S	NM_005577.2	NP_005568.2	P08519	APOA_HUMAN	lipoprotein, Lp(a)	3608	Kringle 10.				blood circulation|lipid metabolic process|lipid transport|lipoprotein metabolic process|proteolysis|receptor-mediated endocytosis	plasma lipoprotein particle	apolipoprotein binding|endopeptidase inhibitor activity|fibronectin binding|heparin binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TGCAGTAGTTCCTGGTCAGGC	0.498													G	161016555	C	G	161016555	3	3	554	1	0	0	0	0	1	0	0	0	8973	854	30	4	2898	4	LPA	6	161016555	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	84991837	161016555	10098512	19	47917											
C8orf47	203111	broad.mit.edu	37	chr8	99101917	99101917	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctagaaacaatttccaaagaGaatgaatctccagaaatatt	19	10	5	7	0	1	4	0	1	1	3	3	5	2	4	2	0	1	0	2	0	8	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:99101917G>C	ENST00000318528.3	+	2	1031	c.672G>C	c.(670-672)gaG>gaC	p.E224D	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	224	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			TTTCCAAAGAGAATGAATCTC	0.483													C	99101917	G	C	99101917	3	2	554	1	0	0	0	0	1	0	0	0	2457	933	33	4	678	4	C8orf47	8	99101917	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		99101917	47262105	20	47918											
ZFAT	57623	broad.mit.edu	37	chr8	135649705	135649705	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctttggcagcatttaccTgcttctccttcctcctcacc	4	14	5	18	0	2	0	1	0	1	0	5	0	4	0	6	1	3	3	6	1	1	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr8:135649705T>C	ENST00000520727.1	-	4	710	c.411A>G	c.(409-411)gcA>gcG	p.A137A	ZFAT_ENST00000520356.1_Splice_Site_p.A137A|ZFAT_ENST00000429442.2_Splice_Site_p.A137A|ZFAT_ENST00000377838.3_Splice_Site_p.A149A|ZFAT_ENST00000520214.1_Splice_Site_p.A137A|ZFAT_ENST00000523399.1_Splice_Site_p.A149A	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			AGCATTTACCTGCTTCTCCTT	0.468													C	135649705	T	C	135649705	5	2	554	1	0	0	0	0	0	0	1	0	17733	1594	55	3	3340	3	ZFAT	8	135649705	Splice_Site	SNP	T	TCGA-HT-7693-01A-11D-2253-08	36547788	135649705	10714317	21	47919											
PTCH1	5727	broad.mit.edu	37	chr9	98270593	98270595	+	In_Frame_Del	DEL	GCC	GCC	-																															ggggcaccgatacagccgctGccgccgccgccgcggtcctg																										TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:98270593_98270595delGCC	ENST00000331920.6	-	1	348_350	c.49_51delGGC	c.(49-51)ggcdel	p.G17del	PTCH1_ENST00000437951.1_Intron|PTCH1_ENST00000375274.2_Intron|PTCH1_ENST00000468211.2_Intron|PTCH1_ENST00000430669.2_Intron	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	17	Gly-rich.				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity			NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TACAGCCGCTGCCGCCGCCGCCG	0.813													-	98270595	GCC	-	98270593	7	5	554	1	0	1	0	1	0	0	0	0	12815	1306	46	0	4384	0	PTCH1	9	98270593	In_Frame_Del	DEL	GCC	TCGA-HT-7693-01A-11D-2253-08		98270593	42942838	22	47920											
OR5C1	392391	broad.mit.edu	37	chr9	125551909	125551909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgtgatccacatgcGctcggtcgagggcagtcggc	5	8	17	11	4	0	1	0	1	0	0	4	2	1	1	1	5	1	3	1	5	0	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr9:125551909G>A	ENST00000373680.2	+	1	760	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	233					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						ATCCACATGCGCTCGGTCGAG	0.592													A	125551909	G	A	125551909	3	1	554	1	0	0	0	0	1	0	0	0	11229	1087	38	1	700	1	OR5C1	9	125551909	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27281316	125551909	15661522	23	47921											
CACNB2	783	broad.mit.edu	37	chr10	18787332	18787332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caaatgtcagctacagtgcgGcccatgaagatgatgttcca	12	9	10	10	1	1	3	1	2	0	1	2	3	2	3	2	1	3	2	2	1	3	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr10:18787332G>A	ENST00000396576.2	+	3	718	c.217G>A	c.(217-219)Gcc>Acc	p.A73T	CACNB2_ENST00000377315.4_Missense_Mutation_p.A80T|CACNB2_ENST00000352115.6_Missense_Mutation_p.A128T|CACNB2_ENST00000377329.4_Missense_Mutation_p.A74T|CACNB2_ENST00000282343.8_Missense_Mutation_p.A100T|CACNB2_ENST00000324631.7_Missense_Mutation_p.A128T|CACNB2_ENST00000377319.3_Missense_Mutation_p.A73T|CACNB2_ENST00000377328.1_Missense_Mutation_p.A128T|CACNB2_ENST00000377331.2_Missense_Mutation_p.A100T	NM_000724.3	NP_000715.2	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	128					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	CTACAGTGCGGCCCATGAAGA	0.423													A	18787332	G	A	18787332	3	1	554	1	0	0	0	0	1	0	0	0	2579	1203	42	2	616	2	CACNB2	10	18787332	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		18787332	116747415	24	47922											
CD248	57124	broad.mit.edu	37	chr11	66084109	66084109	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctccagggccacacaGcgctgggccgggcaggggcc	5	4	16	16	2	0	0	0	0	0	0	1	0	1	0	5	5	2	2	5	5	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:66084109G>A	ENST00000311330.3	-	1	406	c.390C>T	c.(388-390)cgC>cgT	p.R130R	RP11-867G23.13_ENST00000534065.1_RNA	NM_020404.2	NP_065137.1	Q9HCU0	CD248_HUMAN	CD248 molecule, endosialin	130	C-type lectin.					integral to membrane|proteinaceous extracellular matrix	calcium ion binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	26					Cefalotin(DB00456)	GGGCCACACAGCGCTGGGCCG	0.701													A	66084109	G	A	66084109	2	1	554	1	0	0	0	0	0	0	0	1	3019	958	34	2		2	CD248	11	66084109	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		66084109	68922407	25	47923											
FAM76B	143684	broad.mit.edu	37	chr11	95512812	95512812	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattccaatttgggctttttCtttggagtttcattctgaat	7	20	8	6	0	3	1	1	1	2	0	4	3	4	2	1	2	0	2	1	2	2	7			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr11:95512812C>G	ENST00000358780.5	-	7	963	c.651G>C	c.(649-651)aaG>aaC	p.K217N	FAM76B_ENST00000536839.1_Missense_Mutation_p.K217N	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	217										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGGCTTTTTCTTTGGAGTTT	0.308													G	95512812	C	G	95512812	3	3	554	1	0	0	0	0	1	0	0	0	5675	912	32	4	384	4	FAM76B	11	95512812	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	29428703	95512812	39493704	26	47924											
MGAT4C	25834	broad.mit.edu	37	chr12	86373270	86373270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cataacgttttccccaacatCtagggctccatgatgcaaaa	13	10	6	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	5	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr12:86373270C>G	ENST00000604798.1	-	8	2438	c.1234G>C	c.(1234-1236)Gat>Cat	p.D412H	MGAT4C_ENST00000549405.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000552808.2_Missense_Mutation_p.D412H|MGAT4C_ENST00000332156.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000548651.1_Missense_Mutation_p.D412H|MGAT4C_ENST00000393205.2_Missense_Mutation_p.D441H			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	412					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCCCAACATCTAGGGCTCCA	0.318													G	86373270	C	G	86373270	3	3	554	1	0	0	0	0	1	0	0	0	9622	913	32	4	206	4	MGAT4C	12	86373270	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		86373270	47478625	27	47925											
SDR39U1	56948	broad.mit.edu	37	chr14	24909470	24909470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggctcggcggcccagggcaGcacccaaggtctgggcaaac	9	3	15	14	2	1	0	0	0	1	0	2	0	1	0	2	6	2	4	2	6	2	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:24909470G>A	ENST00000554698.1	-	4	884	c.377C>T	c.(376-378)gCt>gTt	p.A126V	SDR39U1_ENST00000555365.1_Missense_Mutation_p.A67V|KHNYN_ENST00000251343.5_3'UTR|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A139V|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A152V|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A109V|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A234V			Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U, member 1	260							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						GCCCAGGGCAGCACCCAAGGT	0.622													A	24909470	G	A	24909470	3	1	554	1	0	0	0	0	1	0	0	0	14065	971	34	2	184	2	SDR39U1	14	24909470	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		24909470	82440070	28	47926											
HECTD1	25831	broad.mit.edu	37	chr14	31590686	31590686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagcgggagccagctcgaCgttgcagggatgggcgtctc	7	6	17	11	4	1	1	0	0	1	1	3	4	1	3	1	3	4	3	1	3	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:31590686C>T	ENST00000399332.1	-	28	5629	c.5141G>A	c.(5140-5142)cGt>cAt	p.R1714H	HECTD1_ENST00000553700.1_Missense_Mutation_p.R1714H	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1714					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GCCAGCTCGACGTTGCAGGGA	0.507													T	31590686	C	T	31590686	3	4	554	1	0	0	0	0	1	0	0	0	7094	536	19	1	2755	1	HECTD1	14	31590686	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	6681216	31590686	75758854	29	47927											
PNN	5411	broad.mit.edu	37	chr14	39648579	39648579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taattaaatatataagaactAagacaaagccccatttgttt	18	13	4	6	0	0	2	0	0	0	2	0	2	0	2	2	0	2	1	2	0	9	8			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr14:39648579A>G	ENST00000216832.4	+	8	773	c.706A>G	c.(706-708)Aag>Gag	p.K236E	PNN_ENST00000557680.1_3'UTR	NM_002687.3	NP_002678	Q9H307	PININ_HUMAN	pinin, desmosome associated protein	236	Glu-rich.|Necessary for interaction with RNPS1.				cell adhesion|regulation of transcription, DNA-dependent|transcription, DNA-dependent	catalytic step 2 spliceosome|desmosome|intermediate filament|nuclear speck	DNA binding|protein binding|structural molecule activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)|stomach(1)	27	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.000565)|Lung(238;0.000711)	GBM - Glioblastoma multiforme(112;0.0119)		TATAAGAACTAAGACAAAGCC	0.338													G	39648579	A	G	39648579	3	3	554	1	0	0	0	0	1	0	0	0	12237	363	13	3	736	3	PNN	14	39648579	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	8057893	39648579	67700961	30	47928											
TP53BP1	7158	broad.mit.edu	37	chr15	43701105	43701105	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatacttaccagtccagaaTtctttgctcctcaaggctgt	11	13	6	11	0	2	1	1	0	1	1	4	1	4	1	3	1	3	2	3	1	5	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr15:43701105T>C	ENST00000263801.3	-	26	5827	c.5575A>G	c.(5575-5577)Att>Gtt	p.I1859V	TP53BP1_ENST00000450115.2_Missense_Mutation_p.I1862V|TP53BP1_ENST00000382039.3_Missense_Mutation_p.I1814V|TP53BP1_ENST00000382044.4_Missense_Mutation_p.I1864V	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1859					double-strand break repair via homologous recombination|positive regulation of transcription from RNA polymerase II promoter	condensed chromosome kinetochore|cytoplasm|nucleoplasm	p53 binding|RNA polymerase II activating transcription factor binding|RNA polymerase II transcription cofactor activity			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		CAGTCCAGAATTCTTTGCTCC	0.473								Other conserved DNA damage response genes					C	43701105	T	C	43701105	3	2	554	1	0	0	0	0	1	0	0	0	16484	1493	52	3	355	3	TP53BP1	15	43701105	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08		43701105	58830287	31	47929											
SBK1	388228	broad.mit.edu	37	chr16	28331453	28331453	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctgggcctggcgctGgacttcatgcacgggcggca	6	6	16	13	3	1	0	1	0	0	0	1	1	1	1	1	5	3	5	1	5	0	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr16:28331453G>C	ENST00000341901.4	+	4	1275	c.486G>C	c.(484-486)ctG>ctC	p.L162L		NM_001024401.2	NP_001019572.1	Q52WX2	SBK1_HUMAN	SH3 domain binding kinase 1	162	Protein kinase.					cytoplasm	ATP binding|protein serine/threonine kinase activity			kidney(1)|lung(3)|ovary(1)	5						GCCTGGCGCTGGACTTCATGC	0.692													C	28331453	G	C	28331453	2	2	554	1	0	0	0	0	0	0	0	1	13952	1335	47	4		4	SBK1	16	28331453	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		28331453	62023300	32	47930											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	554	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08		7577121	73618089	33	47931											
NOS2	4843	broad.mit.edu	37	chr17	26116671	26116671	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcggggactcattctgctGcttgctgaggttgtgatact	5	14	13	9	1	2	2	1	2	1	0	2	3	2	3	0	3	5	4	0	3	1	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:26116671G>A	ENST00000313735.6	-	3	387	c.154C>T	c.(154-156)Cag>Tag	p.Q52*		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	52					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	TCATTCTGCTGCTTGCTGAGG	0.567													A	26116671	G	A	26116671	4	1	554	1	0	0	0	0	0	1	0	0	10619	1328	46	2	3407	2	NOS2	17	26116671	Nonsense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	18539550	26116671	55078539	34	47932											
TUBG1	7283	broad.mit.edu	37	chr17	40765009	40765009	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactcagtgtttcccaaccAggacgagatgagcgatgtgg	11	9	12	9	2	1	2	1	1	0	1	2	5	2	3	2	2	3	1	2	2	2	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr17:40765009A>G	ENST00000251413.3	+	6	586	c.524A>G	c.(523-525)cAg>cGg	p.Q175R		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	175					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		TTTCCCAACCAGGACGAGATG	0.537													G	40765009	A	G	40765009	3	3	554	1	0	0	0	0	1	0	0	0	16866	188	7	3	546	3	TUBG1	17	40765009	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	14648338	40765009	40430201	35	47933											
NLRP5	126206	broad.mit.edu	37	chr19	56539141	56539141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagctcacccctcgaggCgtggtccggcgctgtctcaa	6	8	11	16	4	3	0	3	0	1	0	6	1	4	0	3	3	1	2	3	3	1	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr19:56539141C>T	ENST00000390649.3	+	7	1542	c.1542C>T	c.(1540-1542)ggC>ggT	p.G514G		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	514	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCCCTCGAGGCGTGGTCCGGC	0.592													T	56539141	C	T	56539141	2	4	554	1	0	0	0	0	0	0	0	1	10556	755	27	1		1	NLRP5	19	56539141	Silent	SNP	C	TCGA-HT-7693-01A-11D-2253-08		56539141	2589842	36	47934											
KRTAP13-3	337960	broad.mit.edu	37	chr21	31798186	31798186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtagtgcaagtaacccccGtgggagcaggaggagaagtt	11	6	17	7	1	0	1	0	0	0	1	0	4	0	3	2	4	3	5	2	4	4	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr21:31798186G>A	ENST00000390690.2	-	1	100	c.45C>T	c.(43-45)caC>caT	p.H15H		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	15						intermediate filament				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						AGTAACCCCCGTGGGAGCAGG	0.542													A	31798186	G	A	31798186	2	1	554	1	0	0	0	0	0	0	0	1	8582	1136	40	1		1	KRTAP13-3	21	31798186	Silent	SNP	G	TCGA-HT-7693-01A-11D-2253-08		31798186	16331709	37	47935											
CELSR1	9620	broad.mit.edu	37	chr22	46793715	46793715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgttcagggtggcgaCgttggtgggcgtccccccca	4	10	15	12	3	2	0	2	0	0	0	3	1	3	0	3	4	0	3	3	4	0	3			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chr22:46793715C>T	ENST00000262738.3	-	12	5556	c.5557G>A	c.(5557-5559)Gtc>Atc	p.V1853I		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1853	Laminin G-like 2.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		AGGGTGGCGACGTTGGTGGGC	0.602													T	46793715	C	T	46793715	3	4	554	1	0	0	0	0	1	0	0	0	3251	536	19	1	3583	1	CELSR1	22	46793715	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08		46793715	4510851	38	47936											
PAGE1	8712	broad.mit.edu	37	chrX	49455852	49455852	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcttaatggactacctacCttctgcgggcagtttcatct	8	14	8	11	1	3	0	1	0	2	0	3	1	3	1	2	2	4	3	2	2	3	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:49455852C>T	ENST00000376150.3	-	4	424	c.292G>A	c.(292-294)Ggg>Agg	p.G98R		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	98					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					GACTACCTACCTTCTGCGGGC	0.468													T	49455852	C	T	49455852	5	4	554	1	0	0	0	0	0	0	1	0	11465	695	24	2	160	2	PAGE1	23	49455852	Splice_Site	SNP	C	TCGA-HT-7693-01A-11D-2253-08		49455852	105814708	39	47937											
TSR2	90121	broad.mit.edu	37	chrX	54470611	54470611	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtggacagtgtggaagaGatggaggtgaagtgggtgcc	10	8	20	3	0	0	2	0	1	0	1	0	7	0	5	1	5	1	0	1	5	2	0			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:54470611G>C	ENST00000375151.4	+	4	456	c.435G>C	c.(433-435)gaG>gaC	p.E145D		NM_058163.1	NP_477511.1	Q969E8	TSR2_HUMAN	TSR2, 20S rRNA accumulation, homolog (S. cerevisiae)	145					rRNA processing		protein binding			breast(1)|endometrium(3)|lung(2)	6						GTGTGGAAGAGATGGAGGTGA	0.498													C	54470611	G	C	54470611	3	2	554	1	0	0	0	0	1	0	0	0	16766	933	33	4	449	4	TSR2	23	54470611	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	5014759	54470611	100799949	40	47938											
ARHGEF9	23229	broad.mit.edu	37	chrX	62917174	62917174	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccttctcttccggcactgcTtcagatagccctgtagacaa	8	11	7	15	1	2	2	1	0	1	2	4	2	3	2	3	1	2	3	3	1	3	5			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:62917174T>G	ENST00000253401.6	-	4	1192	c.392A>C	c.(391-393)aAg>aCg	p.K131T	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.K110T|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.K78T|ARHGEF9_ENST00000374878.1_Missense_Mutation_p.K129T|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.K29T|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	131	DH.				apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CCGGCACTGCTTCAGATAGCC	0.453													G	62917174	T	G	62917174	3	3	554	1	0	0	0	0	1	0	0	0	915	1609	56	5	1186	5	ARHGEF9	23	62917174	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	8446563	62917174	92353386	41	47939											
TAF1	6872	broad.mit.edu	37	chrX	70618475	70618475	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagagatgcgaaaagaacGgcggaggattcaagagcaac	17	3	15	6	3	1	3	1	0	0	3	1	8	1	6	0	4	4	1	0	4	6	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:70618475G>A	ENST00000449580.1	+	24	3722	c.3671G>A	c.(3670-3672)cGg>cAg	p.R1224Q	TAF1_ENST00000276072.3_Missense_Mutation_p.R1245Q|TAF1_ENST00000373790.4_Missense_Mutation_p.R1224Q|TAF1_ENST00000423759.1_Missense_Mutation_p.R1245Q			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1224					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CGAAAAGAACGGCGGAGGATT	0.473													A	70618475	G	A	70618475	3	1	554	1	0	0	0	0	1	0	0	0	15610	1116	39	1	3828	1	TAF1	23	70618475	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	7701301	70618475	84652085	42	47940											
ATRX	546	broad.mit.edu	37	chrX	76813058	76813058	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgctgctgatcaacaactCgaaaagacagtgactgctta	13	9	8	11	1	1	3	1	2	0	1	2	4	1	3	1	0	5	3	1	0	5	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:76813058C>T	ENST00000373344.5	-	30	6777	c.6563G>A	c.(6562-6564)cGa>cAa	p.R2188Q	ATRX_ENST00000395603.3_Missense_Mutation_p.R2150Q|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2188	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)	ATCAACAACTCGAAAAGACAG	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76813058	C	T	76813058	3	4	554	1	0	0	0	0	1	0	0	0	1213	884	31	1	939	1	ATRX	23	76813058	Missense_Mutation	SNP	C	TCGA-HT-7693-01A-11D-2253-08	6194583	76813058	78457502	43	47941											
HDX	139324	broad.mit.edu	37	chrX	83723854	83723854	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccattgcaatggacaaacAatttccttctgctgagctag	11	12	7	11	0	1	1	0	1	1	0	3	2	3	2	2	1	4	3	2	1	4	4			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:83723854A>G	ENST00000297977.5	-	3	988	c.877T>C	c.(877-879)Tgt>Cgt	p.C293R	HDX_ENST00000373177.2_Missense_Mutation_p.C293R|HDX_ENST00000506585.2_Missense_Mutation_p.C235R	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	293						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						ATGGACAAACAATTTCCTTCT	0.473													G	83723854	A	G	83723854	3	3	554	1	0	0	0	0	1	0	0	0	7081	130	5	3	1227	3	HDX	23	83723854	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	6910796	83723854	71546706	44	47942											
ALG13	79868	broad.mit.edu	37	chrX	110952273	110952273	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaatcaacaaacttttgaGtctgtaagtagaatacatac	18	11	6	6	0	2	2	1	1	1	1	2	3	2	2	0	0	4	2	0	0	9	6			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:110952273G>C	ENST00000394780.3	+	5	843	c.831G>C	c.(829-831)gaG>gaC	p.E277D	ALG13_ENST00000251943.4_Missense_Mutation_p.E173D|ALG13-AS1_ENST00000430794.1_RNA	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	277	OTU.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						AAACTTTTGAGTCTGTAAGTA	0.388													C	110952273	G	C	110952273	3	2	554	1	0	0	0	0	1	0	0	0	515	1020	36	4	991	4	ALG13	23	110952273	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	27228419	110952273	44318287	45	47943											
MMGT1	93380	broad.mit.edu	37	chrX	135047268	135047268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaagaatttgctgtatccGaaggccggaaaagtactcga	13	10	11	7	3	0	2	0	1	0	1	2	5	1	3	2	2	2	3	2	2	7	4	rs150859420		TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:135047268G>A	ENST00000305963.2	-	4	698	c.311C>T	c.(310-312)tCg>tTg	p.S104L	MMGT1_ENST00000433339.2_Missense_Mutation_p.S169L	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1	104						early endosome membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	magnesium ion transmembrane transporter activity			cervix(1)|endometrium(1)|kidney(1)	3						TGCTGTATCCGAAGGCCGGAA	0.358													A	135047268	G	A	135047268	3	1	554	1	0	0	0	0	1	0	0	0	9722	1059	37	1	88	1	MMGT1	23	135047268	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	24094995	135047268	20223292	46	47944											
AFF2	2334	broad.mit.edu	37	chrX	148035253	148035253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatctaatgaggcacctcGtgtggcaactccagaggtga	11	8	12	10	2	1	3	0	2	1	1	3	4	2	3	2	3	1	2	2	3	3	1			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:148035253G>A	ENST00000370460.2	+	10	2020	c.1541G>A	c.(1540-1542)cGt>cAt	p.R514H	AFF2_ENST00000370457.5_Missense_Mutation_p.R481H|AFF2_ENST00000342251.3_Missense_Mutation_p.R481H|AFF2_ENST00000286437.5_Missense_Mutation_p.R155H	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	514					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GAGGCACCTCGTGTGGCAACT	0.567													A	148035253	G	A	148035253	3	1	554	1	0	0	0	0	1	0	0	0	357	1145	40	1	1634	1	AFF2	23	148035253	Missense_Mutation	SNP	G	TCGA-HT-7693-01A-11D-2253-08	12987985	148035253	7235307	47	47945											
F8	2157	broad.mit.edu	37	chrX	154159216	154159216	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcagaggtccaccagacTcagtaaggggagatgacttt	12	8	12	9	0	2	4	2	1	0	3	3	5	3	4	2	3	1	2	2	3	1	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154159216T>C	ENST00000360256.4	-	14	3049	c.2849A>G	c.(2848-2850)gAg>gGg	p.E950G		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	950	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TCCACCAGACTCAGTAAGGGG	0.373													C	154159216	T	C	154159216	3	2	554	1	0	0	0	0	1	0	0	0	5392	1551	54	3	4286	3	F8	23	154159216	Missense_Mutation	SNP	T	TCGA-HT-7693-01A-11D-2253-08	6123963	154159216	1111344	48	47946											
F8	2157	broad.mit.edu	37	chrX	154250803	154250803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgcaaaaggcacagaaagaAgcaggtggagagctctattt	15	7	12	7	1	1	3	0	0	1	3	2	4	1	3	0	3	2	4	0	3	5	2			TCGA-HT-7693-01A-11D-2253-08	TCGA-HT-7693-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f18cb1e-8576-4fd3-a7a1-eb549089bad2	eb46a1d3-0492-467e-9576-fd233bbff676	g.chrX:154250803A>G	ENST00000360256.4	-	1	225	c.25T>C	c.(25-27)Ttc>Ctc	p.F9L		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	9					acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CACAGAAAGAAGCAGGTGGAG	0.433													G	154250803	A	G	154250803	3	3	554	1	0	0	0	0	1	0	0	0	5392	72	3	3	7162	3	F8	23	154250803	Missense_Mutation	SNP	A	TCGA-HT-7693-01A-11D-2253-08	91587	154250803	1019757	49	47947											
FUBP1	8880	broad.mit.edu	37	chr1	78422330	78422331	+	Frame_Shift_Del	DEL	AT	AT	-																															ggctgtgcttgctgttgataAtagtgagcgtaataagcagc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:78422330_78422331delAT	ENST00000370767.1	-	17	1718_1719	c.1631_1632delAT	c.(1630-1632)tatfs	p.Y545fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.Y566fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.Y545fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	545	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GCTGTTGATAATAGTGAGCGTA	0.431			"F, N"		oligodendroglioma								-	78422331	AT	-	78422330	7	5	555	1	0	1	0	1	0	0	0	0	6144	108	4	0	318	0	FUBP1	1	78422330	Frame_Shift_Del	DEL	AT	TCGA-HT-7694-01A-11D-2253-08		78422330	170828291	1	47948											
ELTD1	64123	broad.mit.edu	37	chr1	79383689	79383689	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacatccatgcaaaagcaGctaaaaagaagtagtgtagc	17	7	9	8	0	0	1	0	0	0	1	1	1	1	1	1	0	5	6	1	0	8	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:79383689G>C	ENST00000370742.3	-	11	1571	c.1508C>G	c.(1507-1509)gCt>gGt	p.A503G		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	503					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		TGCAAAAGCAGCTAAAAAGAA	0.333													C	79383689	G	C	79383689	3	2	555	1	0	0	0	0	1	0	0	0	5125	971	34	4	584	4	ELTD1	1	79383689	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	961359	79383689	169866932	2	47949											
NBPF9	400818	broad.mit.edu	37	chr1	144814702	144814702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatataaagtcctggttcacGctcaggaacgagagctgacc	13	8	10	10	2	2	2	2	1	0	1	3	4	3	3	2	2	2	3	2	2	5	3	rs145249789	by1000genomes	TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:144814702G>T	ENST00000440491.2	+	3	340	c.340G>T	c.(340-342)Gct>Tct	p.A114S	NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000338347.4_Missense_Mutation_p.A114S|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						CCTGGTTCACGCTCAGGAACG	0.493													T	144814702	G	T	144814702	3	4	555	1	0	0	0	0	1	0	0	0	10275	1087	38	4	1142	4	NBPF9	1	144814702	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	65431013	144814702	104435919	3	47950											
CFH	3075	broad.mit.edu	37	chr1	196694339	196694341	+	In_Frame_Del	DEL	CTC	CTC	-																															gttggagaggtgttgaaattCtcctgcaaaccaggatttac																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr1:196694339_196694341delCTC	ENST00000367429.4	+	12	2025_2027	c.1785_1787delCTC	c.(1783-1788)ttctcc>ttc	p.S596del		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	596	Sushi 10.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TGTTGAAATTCTCCTGCAAACCA	0.394													-	196694341	CTC	-	196694339	7	5	555	1	0	1	0	1	0	0	0	0	3313	912	32	0	1849	0	CFH	1	196694339	In_Frame_Del	DEL	CTC	TCGA-HT-7694-01A-11D-2253-08	51879637	196694339	52556282	4	47951											
RNF144A	9781	broad.mit.edu	37	chr2	7164513	7164513	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccacagtgctgctttcaaaAtggaagaagatgacgcgccc	12	7	10	12	2	1	3	1	1	0	2	1	4	1	4	2	1	2	2	2	1	4	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:7164513A>G	ENST00000320892.6	+	7	965	c.523A>G	c.(523-525)Atg>Gtg	p.M175V	RNF144A_ENST00000467276.1_3'UTR	NM_014746.3	NP_055561.2	P50876	R144A_HUMAN	ring finger protein 144A	175						Golgi apparatus|integral to membrane	ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)	25	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;0.226)		OV - Ovarian serous cystadenocarcinoma(76;0.195)		TGCTTTCAAAATGGAAGAAGA	0.567													G	7164513	A	G	7164513	3	3	555	1	0	0	0	0	1	0	0	0	13536	101	4	3	541	3	RNF144A	2	7164513	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		7164513	236034860	5	47952											
NBAS	51594	broad.mit.edu	37	chr2	15523366	15523366	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatcagaatctagacaTgtgtatacattctgctgcat	12	12	8	9	0	3	2	1	0	2	2	3	2	3	2	0	1	3	4	0	1	4	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:15523366T>C	ENST00000281513.5	-	29	3358	c.3333A>G	c.(3331-3333)acA>acG	p.T1111T	NBAS_ENST00000441750.1_Silent_p.T991T	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1111										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AATCTAGACATGTGTATACAT	0.348													C	15523366	T	C	15523366	2	2	555	1	0	0	0	0	0	0	0	1	10262	1451	51	3		3	NBAS	2	15523366	Silent	SNP	T	TCGA-HT-7694-01A-11D-2253-08	8358853	15523366	227676007	6	47953											
APOB	338	broad.mit.edu	37	chr2	21230343	21230343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtaaggtagacgcatttcagGaattgttaaaggaatgttta	14	13	11	3	1	1	1	1	0	0	1	1	3	1	3	0	3	0	5	0	3	7	7			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:21230343G>A	ENST00000233242.1	-	26	9524	c.9397C>T	c.(9397-9399)Cct>Tct	p.P3133S		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3133					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CGCATTTCAGGAATTGTTAAA	0.373													A	21230343	G	A	21230343	3	1	555	1	0	0	0	0	1	0	0	0	788	1174	41	2	4310	2	APOB	2	21230343	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	5706977	21230343	221969030	7	47954											
WDR92	116143	broad.mit.edu	37	chr2	68384619	68384619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caaccgccacacccagagccCccaaaaacggcaacctggaa	15	1	7	18	2	0	1	0	0	0	1	0	2	0	2	6	2	4	1	6	2	5	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:68384619C>T	ENST00000406334.3	-	8	1188	c.970G>A	c.(970-972)Ggg>Agg	p.G324R	WDR92_ENST00000295121.6_5'UTR|WDR92_ENST00000492039.2_5'UTR						0																	ACCCAGAGCCCCCAAAAACGG	0.547													T	68384619	C	T	68384619	3	4	555	1	0	0	0	0	1	0	0	0	17441	638	22	2		2	WDR92	2	68384619	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	47154276	68384619	174814754	8	47955											
PTCD3	55037	broad.mit.edu	37	chr2	86355071	86355074	+	Frame_Shift_Del	DEL	GCTT	GCTT	-																															ctggtaatttgagaaccctcGcttgcaacatatcaccatat																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:86355071_86355074delGCTT	ENST00000254630.7	+	14	1170_1173	c.1104_1107delGCTT	c.(1102-1107)tcgcttfs	p.SL368fs		NM_017952.5	NP_060422.4	Q96EY7	PTCD3_HUMAN	pentatricopeptide repeat domain 3	368						mitochondrion	protein binding			NS(1)|breast(2)|endometrium(3)|kidney(4)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	22						GAGAACCCTCGCTTGCAACATATC	0.333													-	86355074	GCTT	-	86355071	7	5	555	1	0	1	0	1	0	0	0	0	12814	1074	38	0	1158	0	PTCD3	2	86355071	Frame_Shift_Del	DEL	GCTT	TCGA-HT-7694-01A-11D-2253-08	17970452	86355071	156844302	9	47956											
IL1RL2	8808	broad.mit.edu	37	chr2	102808543	102808543	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatgtcatctgcacttccCgaagagttgtgttttgggtc	7	14	10	10	1	2	1	1	0	1	1	4	2	3	1	1	1	1	3	1	1	1	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:102808543C>T	ENST00000264257.2	+	4	578	c.452C>T	c.(451-453)cCg>cTg	p.P151L	IL1RL2_ENST00000481806.1_Intron|IL1RL2_ENST00000539491.1_Missense_Mutation_p.P151L|IL1RL2_ENST00000441515.2_Intron	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	151	Ig-like C2-type 2.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity	p.P151Q(1)		breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						CTGCACTTCCCGAAGAGTTGT	0.328													T	102808543	C	T	102808543	3	4	555	1	0	0	0	0	1	0	0	0	7722	652	23	1	462	1	IL1RL2	2	102808543	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	16453472	102808543	140390830	10	47957											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	555	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	106304569	209113112	34086261	11	47958											
TRIP12	9320	broad.mit.edu	37	chr2	230723871	230723871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagcttggtaggtttcGcagatctctcttctgcacca	8	12	9	12	1	3	1	0	0	3	1	5	1	3	1	2	2	3	5	2	2	2	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr2:230723871G>A	ENST00000283943.5	-	3	696	c.518C>T	c.(517-519)gCg>gTg	p.A173V	TRIP12_ENST00000543084.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A215V|TRIP12_ENST00000409677.1_Missense_Mutation_p.A215V|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	173					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GGTAGGTTTCGCAGATCTCTC	0.507													A	230723871	G	A	230723871	3	1	555	1	0	0	0	0	1	0	0	0	16657	1087	38	1	5616	1	TRIP12	2	230723871	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	21610759	230723871	12475502	12	47959											
RAF1	5894	broad.mit.edu	37	chr3	12653552	12653552	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcaagctcattccatttcGcacattgacctacaaacaaa	15	10	4	12	1	1	1	1	1	0	0	3	1	2	1	2	0	4	3	2	0	4	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:12653552G>A	ENST00000251849.4	-	3	656	c.217C>T	c.(217-219)Cga>Tga	p.R73*	RAF1_ENST00000442415.2_Nonsense_Mutation_p.R73*|RAF1_ENST00000542177.1_Intron	NM_002880.3	NP_002871.1	P04049	RAF1_HUMAN	v-raf-1 murine leukemia viral oncogene homolog 1	73	RBD.				activation of MAPKK activity|apoptosis|axon guidance|cell proliferation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of peptidyl-serine phosphorylation|Ras protein signal transduction|synaptic transmission	cytosol|mitochondrial outer membrane|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|receptor signaling protein activity		ESRP1/RAF1(4)|RAF1/DAZL(2)|SRGAP3/RAF1(6)	biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(9)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)	32					Sorafenib(DB00398)	ATTCCATTTCGCACATTGACC	0.498			T	SRGAP3	pilocytic astrocytoma				Noonan syndrome				A	12653552	G	A	12653552	4	1	555	1	0	0	0	0	0	1	0	0	13090	1095	38	1	1789	1	RAF1	3	12653552	Nonsense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		12653552	185368878	13	47960											
FBLN2	2199	broad.mit.edu	37	chr3	13679124	13679124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactcgccagcgcgcatcaCgcactaccagctcaacttcc	10	6	7	18	4	2	0	2	0	0	0	4	1	3	0	3	0	5	3	3	0	3	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:13679124C>T	ENST00000404922.3	+	18	3520	c.3401C>T	c.(3400-3402)aCg>aTg	p.T1134M	FBLN2_ENST00000535798.1_Missense_Mutation_p.T1113M|FBLN2_ENST00000492059.1_Missense_Mutation_p.T1134M|FBLN2_ENST00000295760.7_Missense_Mutation_p.T1087M	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	1087	Domain III.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGCGCATCACGCACTACCAG	0.657													T	13679124	C	T	13679124	3	4	555	1	0	0	0	0	1	0	0	0	5748	536	19	1	2157	1	FBLN2	3	13679124	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1025572	13679124	184343306	14	47961											
C3orf35	339883	broad.mit.edu	37	chr3	37458938	37458938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagatgggcctgcagggcAgtgctcagcatttcaacatc	10	8	12	11	0	2	1	2	0	0	1	3	1	2	1	1	2	5	5	1	2	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:37458938A>G	ENST00000328376.5	+	5	1160	c.181A>G	c.(181-183)Agt>Ggt	p.S61G	C3orf35_ENST00000481400.1_Intron|C3orf35_ENST00000425932.1_Missense_Mutation_p.S61G|C3orf35_ENST00000426078.1_Missense_Mutation_p.S61G|C3orf35_ENST00000452017.2_Missense_Mutation_p.S61G|C3orf35_ENST00000425564.2_Missense_Mutation_p.S61G	NM_178339.2	NP_848029.2	Q8IVJ8	APRG1_HUMAN	chromosome 3 open reading frame 35	61						integral to membrane				NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	11						CCTGCAGGGCAGTGCTCAGCA	0.463													G	37458938	A	G	37458938	3	3	555	1	0	0	0	0	1	0	0	0	2246	188	7	3	183	3	C3orf35	3	37458938	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	23779814	37458938	160563492	15	47962											
MYD88	4615	broad.mit.edu	37	chr3	38180395	38180395	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcaactggagacacaagcGgaccccactggcaggctgct	10	4	13	14	2	0	1	0	0	0	1	0	3	0	2	2	5	3	4	2	5	2	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:38180395G>A	ENST00000417037.2	+	1	427	c.243G>A	c.(241-243)gcG>gcA	p.A81A	MYD88_ENST00000424893.1_Silent_p.A81A|MYD88_ENST00000443433.2_Silent_p.A81A|MYD88_ENST00000495303.1_Silent_p.A81A|MYD88_ENST00000396334.3_Silent_p.A81A	NM_001172567.1	NP_001166038.1	Q99836	MYD88_HUMAN	myeloid differentiation primary response 88	68	Death.				3'-UTR-mediated mRNA stabilization|anti-apoptosis|cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-17 production|positive regulation of interleukin-23 production|positive regulation of interleukin-6 production|regulation of inflammatory response|response to interleukin-1|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|intrinsic to membrane|plasma membrane	death receptor binding|TIR domain binding|transmembrane receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(226)|large_intestine(3)|lung(6)|upper_aerodigestive_tract(1)	237				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		AGACACAAGCGGACCCCACTG	0.657			Mis		ABC-DLBCL								A	38180395	G	A	38180395	2	1	555	1	0	0	0	0	0	0	0	1	10099	1103	39	1		1	MYD88	3	38180395	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	721457	38180395	159842035	16	47963											
RFT1	91869	broad.mit.edu	37	chr3	53126463	53126463	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgcaggccagccaggggCctgtgggggctccttcggta	5	7	18	11	1	0	0	0	0	0	0	2	0	1	0	4	7	2	3	4	7	1	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:53126463C>T	ENST00000296292.3	-	12	1441	c.1380G>A	c.(1378-1380)agG>agA	p.R460R	RFT1_ENST00000394738.3_Silent_p.R421R|RP11-894J14.5_ENST00000607203.1_Intron	NM_052859.3	NP_443091.1	Q96AA3	RFT1_HUMAN	RFT1 homolog (S. cerevisiae)	460					carbohydrate transport|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane	lipid transporter activity			NS(1)|breast(1)|kidney(1)|lung(5)|skin(2)|urinary_tract(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.98e-05)|Kidney(197;0.0017)|KIRC - Kidney renal clear cell carcinoma(197;0.00192)|OV - Ovarian serous cystadenocarcinoma(275;0.104)		CAGCCAGGGGCCTGTGGGGGC	0.592													T	53126463	C	T	53126463	2	4	555	1	0	0	0	0	0	0	0	1	13345	738	26	2		2	RFT1	3	53126463	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	14946068	53126463	144895967	17	47964											
TMEM14E	645843	broad.mit.edu	37	chr3	152058574	152058574	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactgaagaagaatccagcAgaaggggactggacagaacc	16	4	12	9	0	1	5	1	1	0	4	2	7	2	7	2	3	2	1	2	3	5	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:152058574A>G	ENST00000408960.3	-	1	205	c.120T>C	c.(118-120)tcT>tcC	p.S40S	MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282488.7_Intron|MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000355460.2_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	40						integral to membrane				lung(1)	1						AGAATCCAGCAGAAGGGGACT	0.488													G	152058574	A	G	152058574	2	3	555	1	0	0	0	0	0	0	0	1	16166	175	7	3		3	TMEM14E	3	152058574	Silent	SNP	A	TCGA-HT-7694-01A-11D-2253-08	98932111	152058574	45963856	18	47965											
ACTL6A	86	broad.mit.edu	37	chr3	179301185	179301186	+	Frame_Shift_Del	DEL	AC	AC	-																															gcaggaggaaacacactaatAcagagttttactgacaggtt																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr3:179301185_179301186delAC	ENST00000429709.2	+	12	1284_1285	c.1071_1072delAC	c.(1069-1074)atacagfs	p.Q358fs	ACTL6A_ENST00000392662.1_Frame_Shift_Del_p.Q316fs|RP11-15L13.4_ENST00000608818.1_RNA|ACTL6A_ENST00000450518.2_Frame_Shift_Del_p.Q316fs	NM_004301.3	NP_004292.1	O96019	ACL6A_HUMAN	actin-like 6A	358					chromatin remodeling|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|nervous system development|regulation of growth|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	Ino80 complex|npBAF complex|NuA4 histone acetyltransferase complex|plasma membrane|SWI/SNF complex	ATP binding|chromatin binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	21	all_cancers(143;3.94e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)			ACACACTAATACAGAGTTTTAC	0.347													-	179301186	AC	-	179301185	7	5	555	1	0	1	0	1	0	0	0	0	198	381	14	0	1117	0	ACTL6A	3	179301185	Frame_Shift_Del	DEL	AC	TCGA-HT-7694-01A-11D-2253-08	27242611	179301185	18721245	19	47966											
GNRHR	2798	broad.mit.edu	37	chr4	68606313	68606313	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaacatttcaggatcaaacCaataccaaattcctaggaca	17	10	4	10	0	2	0	2	0	0	0	3	2	3	2	3	2	3	0	3	2	6	5			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:68606313C>T	ENST00000226413.4	-	3	896	c.872G>A	c.(871-873)tGg>tAg	p.W291*	UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000502758.1_RNA|GNRHR_ENST00000420975.2_Silent_p.L248L	NM_000406.2	NP_000397.1	P30968	GNRHR_HUMAN	gonadotropin-releasing hormone receptor	291					multicellular organismal development	integral to plasma membrane	gonadotropin-releasing hormone receptor activity			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	13					Abarelix(DB00106)|Cetrorelix(DB00050)|Danazol(DB01406)|Gonadorelin(DB00644)|Leuprolide(DB00007)|Nafarelin(DB00666)	AGGATCAAACCAATACCAAAT	0.403													T	68606313	C	T	68606313	4	4	555	1	0	0	0	0	0	1	0	0	6605	595	21	2	118	2	GNRHR	4	68606313	Nonsense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		68606313	122547963	20	47967											
ANKRD17	26057	broad.mit.edu	37	chr4	73963819	73963820	+	Frame_Shift_Del	DEL	TC	TC	-																															gccttgccagaaacagatttTctctcttcctttggaaatgt																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:73963819_73963820delTC	ENST00000358602.4	-	26	5107_5108	c.4991_4992delGA	c.(4990-4992)agafs	p.R1664fs	ANKRD17_ENST00000509867.2_Frame_Shift_Del_p.R1551fs|ANKRD17_ENST00000330838.6_Frame_Shift_Del_p.R1413fs	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1664	Ser-rich.				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			AAACAGATTTTCTCTCTTCCTT	0.361													-	73963820	TC	-	73963819	7	5	555	1	0	1	0	1	0	0	0	0	646	1780	62	0	2855	0	ANKRD17	4	73963819	Frame_Shift_Del	DEL	TC	TCGA-HT-7694-01A-11D-2253-08	5357506	73963819	117190457	21	47968											
KLKB1	3818	broad.mit.edu	37	chr4	187173195	187173195	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaacaaaaacaagcacacGcattgttggaggaacaaact	19	5	7	10	1	0	0	0	0	0	0	0	2	0	2	0	2	5	3	0	2	6	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr4:187173195G>A	ENST00000264690.6	+	11	1356	c.1169G>A	c.(1168-1170)cGc>cAc	p.R390H	KLKB1_ENST00000513864.1_Missense_Mutation_p.R390H	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	390					blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity	p.R390H(2)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		ACAAGCACACGCATTGTTGGA	0.502													A	187173195	G	A	187173195	3	1	555	1	0	0	0	0	1	0	0	0	8470	1087	38	1	1207	1	KLKB1	4	187173195	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	113209376	187173195	3981081	22	47969											
PIK3R1	5295	broad.mit.edu	37	chr5	67589138	67589138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	attgtttttacaggaaagggGgaaataacaaattaatcaaa	19	11	8	3	0	1	0	1	0	0	0	1	2	1	2	0	3	2	1	0	3	7	6			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr5:67589138G>A	ENST00000521381.1	+	10	1742	c.1126G>A	c.(1126-1128)Gga>Aga	p.G376R	PIK3R1_ENST00000396611.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000523872.1_Missense_Mutation_p.G13R|PIK3R1_ENST00000336483.5_Missense_Mutation_p.G106R|PIK3R1_ENST00000521657.1_Missense_Mutation_p.G376R|PIK3R1_ENST00000320694.8_Missense_Mutation_p.G76R|PIK3R1_ENST00000274335.5_Missense_Mutation_p.G376R	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	376	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.G376R(5)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAGGAAAGGGGGAAATAACAA	0.308			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			A	67589138	G	A	67589138	3	1	555	1	0	0	0	0	1	0	0	0	11995	1233	43	2	1290	2	PIK3R1	5	67589138	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		67589138	113326122	23	47970											
TREML2	79865	broad.mit.edu	37	chr6	41165998	41165998	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgtcctgcagcaagtagcgGggccctttcacccagactcg	7	8	11	15	3	1	1	1	0	0	1	4	1	2	1	3	2	3	3	3	2	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:41165998G>A	ENST00000483722.1	-	2	410	c.225C>T	c.(223-225)ccC>ccT	p.P75P		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	75	Ig-like V-type.				T cell activation	cell surface|integral to membrane|plasma membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					GCAAGTAGCGGGGCCCTTTCA	0.572													A	41165998	G	A	41165998	2	1	555	1	0	0	0	0	0	0	0	1	16574	1219	43	2		2	TREML2	6	41165998	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41165998	129949069	24	47971											
DST	667	broad.mit.edu	37	chr6	56472643	56472645	+	In_Frame_Del	DEL	AAG	AAG	-																															tctctacctgaagcattattAagaaatacaccagatgagct																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:56472643_56472645delAAG	ENST00000370754.5	-	39	6681_6683	c.6682_6684delCTT	c.(6682-6684)cttdel	p.L2228del	DST_ENST00000312431.6_In_Frame_Del_p.L2050del|DST_ENST00000244364.6_Intron|DST_ENST00000446842.2_In_Frame_Del_p.L1724del|DST_ENST00000370788.2_Intron|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_In_Frame_Del_p.L2050del|DST_ENST00000361203.3_In_Frame_Del_p.L2050del			Q03001	DYST_HUMAN	dystonin	2050					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			AAGCATTATTAAGAAATACACCA	0.404													-	56472645	AAG	-	56472643	7	5	555	1	0	1	0	1	0	0	0	0	4822	377	13	0		0	DST	6	56472643	In_Frame_Del	DEL	AAG	TCGA-HT-7694-01A-11D-2253-08	15306645	56472643	114642424	25	47972											
FILIP1	27145	broad.mit.edu	37	chr6	76023092	76023092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgtatgaatacagctggcGtttcttcctctgctgcttca	6	15	8	12	2	3	1	1	1	2	0	5	1	5	1	2	1	4	5	2	1	3	5			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:76023092G>A	ENST00000393004.2	-	5	2677	c.2456C>T	c.(2455-2457)aCg>aTg	p.T819M	FILIP1_ENST00000237172.7_Missense_Mutation_p.T819M|FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000370020.1_Missense_Mutation_p.T720M			Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	819										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TACAGCTGGCGTTTCTTCCTC	0.463													A	76023092	G	A	76023092	3	1	555	1	0	0	0	0	1	0	0	0	5943	1145	40	1	1193	1	FILIP1	6	76023092	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	19550449	76023092	95091975	26	47973											
SLC35A1	10559	broad.mit.edu	37	chr6	88187186	88187186	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggacatcagacaaagaactCtacttttcaaccacagccgt	15	8	6	12	1	3	2	2	0	1	2	3	3	3	3	2	1	4	0	2	1	4	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:88187186C>G	ENST00000369552.4	+	2	150	c.123C>G	c.(121-123)ctC>ctG	p.L41L	C6orf165_ENST00000506888.1_3'UTR|SLC35A1_ENST00000369556.3_Silent_p.L41L|C6orf165_ENST00000507897.1_3'UTR|SLC35A1_ENST00000464978.1_3'UTR|SLC35A1_ENST00000369557.5_Silent_p.L41L|SLC35A1_ENST00000544441.1_5'UTR	NM_006416.4	NP_006407.1	P78382	S35A1_HUMAN	solute carrier family 35 (CMP-sialic acid transporter), member A1	41					carbohydrate metabolic process|protein modification process	Golgi membrane|integral to plasma membrane	CMP-N-acetylneuraminate transmembrane transporter activity|sugar:hydrogen symporter activity			breast(1)|kidney(3)|large_intestine(2)|lung(3)	9		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0429)		ACAAAGAACTCTACTTTTCAA	0.358													G	88187186	C	G	88187186	2	3	555	1	0	0	0	0	0	0	0	1	14664	900	32	4		4	SLC35A1	6	88187186	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08	12164094	88187186	82927881	27	47974											
COQ3	51805	broad.mit.edu	37	chr6	99817516	99817516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcacagctggattggtgcagGcattagcttggagctcttct	7	12	13	9	0	2	0	0	0	2	0	2	2	2	2	0	4	4	6	0	4	1	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:99817516G>A	ENST00000254759.3	-	7	1094	c.1070C>T	c.(1069-1071)gCc>gTc	p.A357V	COQ3_ENST00000369240.1_Missense_Mutation_p.A129V|COQ3_ENST00000369242.1_Missense_Mutation_p.A129V	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	357					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		ATTGGTGCAGGCATTAGCTTG	0.403													A	99817516	G	A	99817516	3	1	555	1	0	0	0	0	1	0	0	0	3777	1203	42	2	43	2	COQ3	6	99817516	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	11630330	99817516	71297551	28	47975											
HDAC2	3066	broad.mit.edu	37	chr6	114270202	114270203	+	Frame_Shift_Del	DEL	TG	TG	-																															ataatgagtctgcaccacacTgtaataccacagcactaggt																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:114270202_114270203delTG	ENST00000519065.1	-	8	1157_1158	c.781_782delCA	c.(781-783)cagfs	p.Q261fs	HDAC2_ENST00000398283.2_Frame_Shift_Del_p.Q355fs|HDAC2_ENST00000519108.1_Frame_Shift_Del_p.Q231fs|HDAC2_ENST00000368632.2_Frame_Shift_Del_p.Q231fs			Q92769	HDAC2_HUMAN	histone deacetylase 2	261	Histone deacetylase.				blood coagulation|dendrite development|embryonic digit morphogenesis|epidermal cell differentiation|eyelid development in camera-type eye|fungiform papilla formation|hair follicle placode formation|maintenance of chromatin silencing|negative regulation of apoptosis|negative regulation of cell cycle|negative regulation of neuron projection development|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|odontogenesis of dentine-containing tooth|positive regulation of cell proliferation|positive regulation of proteolysis|positive regulation of receptor biosynthetic process|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|ESC/E(Z) complex|NuRD complex|Sin3 complex	chromatin binding|enzyme binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|sequence-specific DNA binding|transcription factor binding	p.Q261P(1)		biliary_tract(1)|central_nervous_system(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(87;0.000629)|all_epithelial(87;0.00274)|Colorectal(196;0.0317)|all_lung(197;0.24)		all cancers(137;0.00318)|OV - Ovarian serous cystadenocarcinoma(136;0.00569)|Epithelial(106;0.0112)|GBM - Glioblastoma multiforme(226;0.0832)	Vorinostat(DB02546)	TGCACCACACTGTAATACCACA	0.371													-	114270203	TG	-	114270202	7	5	555	1	0	1	0	1	0	0	0	0	7062	1580	55	0	712	0	HDAC2	6	114270202	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	14452686	114270202	56844865	29	47976											
FUCA2	2519	broad.mit.edu	37	chr6	143823670	143823670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgctaccagctccccaaCgatcattggtgactactgtg	10	10	9	12	1	1	2	1	1	0	1	2	3	2	2	3	1	5	2	3	1	3	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr6:143823670C>T	ENST00000002165.6	-	4	840	c.785G>A	c.(784-786)cGt>cAt	p.R262H	FUCA2_ENST00000438118.2_Intron|RP1-20N2.6_ENST00000591892.1_RNA|FUCA2_ENST00000367585.1_Intron|RP1-20N2.6_ENST00000589563.1_RNA|RP1-20N2.6_ENST00000610068.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		AGCTCCCCAACGATCATTGGT	0.403													T	143823670	C	T	143823670	3	4	555	1	0	0	0	0	1	0	0	0	6147	536	19	1	634	1	FUCA2	6	143823670	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	29553468	143823670	27291397	30	47977											
NEUROD6	63974	broad.mit.edu	37	chr7	31378576	31378577	+	Frame_Shift_Del	DEL	CG	CG	-																															gccgtgcatcctgttcctctCgcgcgcgttcgcttcctgtc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:31378576_31378577delCG	ENST00000297142.3	-	2	628_629	c.306_307delCG	c.(304-309)cgcgagfs	p.E103fs		NM_022728.2	NP_073565.2	Q96NK8	NDF6_HUMAN	neuronal differentiation 6	103					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	32						CTGTTCCTCTCGCGCGCGTTCG	0.47													-	31378577	CG	-	31378576	7	5	555	1	0	1	0	1	0	0	0	0	10427	893	31	0	710	0	NEUROD6	7	31378576	Frame_Shift_Del	DEL	CG	TCGA-HT-7694-01A-11D-2253-08		31378576	127760087	31	47978											
CLIP2	7461	broad.mit.edu	37	chr7	73795186	73795187	+	Frame_Shift_Del	DEL	TG	TG	-																															acgatcaggacgaaggaaacTgtggagggtgagtggccacc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:73795186_73795187delTG	ENST00000223398.6	+	11	2799_2800	c.2472_2473delTG	c.(2470-2475)actgtgfs	p.V825fs	CLIP2_ENST00000361545.5_Frame_Shift_Del_p.V790fs|CLIP2_ENST00000395060.1_Frame_Shift_Del_p.V825fs	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	825						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						CGAAGGAAACTGTGGAGGGTGA	0.579													-	73795187	TG	-	73795186	7	5	555	1	0	1	0	1	0	0	0	0	3564	1567	55	0	2510	0	CLIP2	7	73795186	Frame_Shift_Del	DEL	TG	TCGA-HT-7694-01A-11D-2253-08	42416610	73795186	85343477	32	47979											
TSC22D4	81628	broad.mit.edu	37	chr7	100064672	100064672	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccgggctggccagggcGcgcagcagcccattctcctg	4	7	14	16	3	1	0	0	0	1	0	3	0	2	0	4	3	3	4	4	3	0	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:100064672G>T	ENST00000300181.2	-	5	1852	c.1098C>A	c.(1096-1098)cgC>cgA	p.R366R	TSC22D4_ENST00000496728.1_Intron|TSC22D4_ENST00000393991.1_Silent_p.R127R	NM_030935.3	NP_112197.1	Q9Y3Q8	T22D4_HUMAN	TSC22 domain family, member 4	366					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	8	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TGGCCAGGGCGCGCAGCAGCC	0.697													T	100064672	G	T	100064672	2	4	555	1	0	0	0	0	0	0	0	1	16711	1074	38	4		4	TSC22D4	7	100064672	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	26269486	100064672	59073991	33	47980											
MYL10	93408	broad.mit.edu	37	chr7	101267513	101267513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacgttggagctggcggtgCcttctgctcttttccgagct	4	13	13	11	3	2	1	0	0	2	1	3	3	3	2	2	3	4	4	2	3	0	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr7:101267513C>T	ENST00000223167.4	-	2	287	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_138403.4	NP_612412.2	Q9BUA6	MYL10_HUMAN	myosin, light chain 10, regulatory	37						mitochondrion	calcium ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	12						GCTGGCGGTGCCTTCTGCTCT	0.587													T	101267513	C	T	101267513	3	4	555	1	0	0	0	0	1	0	0	0	10120	739	26	2	598	2	MYL10	7	101267513	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	1202841	101267513	57871150	34	47981											
OLFML2A	169611	broad.mit.edu	37	chr9	127572530	127572530	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcaggaaggccaggtcgccTacgctttcgacacgcacacg	10	5	12	14	5	0	0	0	0	0	0	2	2	0	1	2	3	2	3	2	3	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:127572530T>C	ENST00000373580.3	+	8	1798	c.1798T>C	c.(1798-1800)Tac>Cac	p.Y600H	OLFML2A_ENST00000288815.5_Missense_Mutation_p.Y386H	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	600	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						CCAGGTCGCCTACGCTTTCGA	0.637													C	127572530	T	C	127572530	3	2	555	1	0	0	0	0	1	0	0	0	10933	1522	53	3	1828	3	OLFML2A	9	127572530	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		127572530	13640901	35	47982											
FCN1	2219	broad.mit.edu	37	chr9	137804960	137804960	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgctcaggaaatacccccGgtctagcaggtccttgcagt	8	8	11	14	2	2	0	1	0	1	0	3	1	3	1	4	3	3	3	4	3	3	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr9:137804960G>T	ENST00000371806.3	-	6	461	c.370C>A	c.(370-372)Cgg>Agg	p.R124R		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	124	Fibrinogen C-terminal.				opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		AAATACCCCCGGTCTAGCAGG	0.682													T	137804960	G	T	137804960	2	4	555	1	0	0	0	0	0	0	0	1	5840	1115	39	4		4	FCN1	9	137804960	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08	10232430	137804960	3408471	36	47983											
VDAC2	7417	broad.mit.edu	37	chr10	76980618	76980618	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcagctgtctttggttatgaGggctggcttgctggctacca	5	14	13	9	0	2	1	1	1	1	0	2	1	2	1	1	4	3	6	1	4	2	4			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:76980618G>A	ENST00000535553.1	+	8	713	c.357G>A	c.(355-357)gaG>gaA	p.E119E	VDAC2_ENST00000332211.6_Silent_p.E158E|VDAC2_ENST00000472137.1_3'UTR|VDAC2_ENST00000543351.1_Silent_p.E158E|VDAC2_ENST00000313132.4_Silent_p.E173E			P45880	VDAC2_HUMAN	voltage-dependent anion channel 2	158						mitochondrial nucleoid|mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)|pancreas(2)|prostate(1)|urinary_tract(1)	10	all_cancers(46;0.0642)|all_epithelial(25;0.00604)|Prostate(51;0.0112)|Ovarian(15;0.183)				Dihydroxyaluminium(DB01375)	TTGGTTATGAGGGCTGGCTTG	0.468													A	76980618	G	A	76980618	2	1	555	1	0	0	0	0	0	0	0	1	17249	991	35	2		2	VDAC2	10	76980618	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		76980618	58554129	37	47984											
GLUD1	2746	broad.mit.edu	37	chr10	88835744	88835744	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatagttcttgggattgAtcttaacaccagctttagca	11	14	8	8	0	2	1	0	1	2	0	2	2	2	2	1	1	3	4	1	1	4	8			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr10:88835744A>C	ENST00000277865.4	-	3	659	c.563T>G	c.(562-564)aTc>aGc	p.I188S	GLUD1_ENST00000544149.1_Missense_Mutation_p.I55S|GLUD1_ENST00000537649.1_Missense_Mutation_p.I21S	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	188					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	CTTGGGATTGATCTTAACACC	0.353													C	88835744	A	C	88835744	3	2	555	1	0	0	0	0	1	0	0	0	6532	333	12	5	1157	5	GLUD1	10	88835744	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08	11855126	88835744	46699003	38	47985											
ANO3	63982	broad.mit.edu	37	chr11	26663556	26663556	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaaccttcatggactgaTggatgagtacttagaaatgg	13	11	11	6	0	1	4	1	3	0	1	1	6	1	6	1	3	2	1	1	3	4	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:26663556T>C	ENST00000256737.3	+	22	3107	c.2255T>C	c.(2254-2256)aTg>aCg	p.M752T	ANO3_ENST00000531568.1_Missense_Mutation_p.M606T|ANO3_ENST00000525139.1_Missense_Mutation_p.M736T|ANO3_ENST00000537978.1_Missense_Mutation_p.M736T	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	752						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CATGGACTGATGGATGAGTAC	0.413													C	26663556	T	C	26663556	3	2	555	1	0	0	0	0	1	0	0	0	698	1464	51	3	2341	3	ANO3	11	26663556	Missense_Mutation	SNP	T	TCGA-HT-7694-01A-11D-2253-08		26663556	108342960	39	47986											
OTUB1	55611	broad.mit.edu	37	chr11	63764577	63764579	+	In_Frame_Del	DEL	CCT	CCT	-																															ctctgtcgccgacctgctggCctccttcaatgaccagagca																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:63764577_63764579delCCT	ENST00000541478.1	+	3	636_638	c.176_178delCCT	c.(175-180)gcctcc>gcc	p.S60del	OTUB1_ENST00000535715.1_In_Frame_Del_p.S161del|OTUB1_ENST00000543988.1_In_Frame_Del_p.S131del|OTUB1_ENST00000543004.1_In_Frame_Del_p.S170del|OTUB1_ENST00000428192.2_In_Frame_Del_p.S161del|OTUB1_ENST00000538426.1_In_Frame_Del_p.S161del|OTUB1_ENST00000422031.2_In_Frame_Del_p.S198del			Q96FW1	OTUB1_HUMAN	OTU domain, ubiquitin aldehyde binding 1	161					protein K48-linked deubiquitination	cytoplasm	NEDD8-specific protease activity|omega peptidase activity|ubiquitin binding|ubiquitin-specific protease activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	6						GACCTGCTGGCCTCCTTCAATGA	0.591													-	63764579	CCT	-	63764577	7	5	555	1	0	1	0	1	0	0	0	0	11387	739	26	0	501	0	OTUB1	11	63764577	In_Frame_Del	DEL	CCT	TCGA-HT-7694-01A-11D-2253-08	37101021	63764577	71241939	40	47987											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	555	1	0	1	0	1	0	0	0	0	3894	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-HT-7694-01A-11D-2253-08	21610665	85375242	49631274	41	47988											
H3F3C	440093	broad.mit.edu	37	chr12	31944718	31944718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctccccgtatccggCgagccaactggatgtctttg	5	12	9	15	3	3	0	0	0	3	0	6	2	4	1	4	2	2	1	4	2	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr12:31944718C>T	ENST00000340398.3	-	1	457	c.383G>A	c.(382-384)cGc>cAc	p.R128H		NM_001013699.2	NP_001013721.2	Q6NXT2	H3C_HUMAN	H3 histone, family 3C	128					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	18						CCGTATCCGGCGAGCCAACTG	0.443										HNSCC(67;0.2)			T	31944718	C	T	31944718	3	4	555	1	0	0	0	0	1	0	0	0	6990	768	27	1	28	1	H3F3C	12	31944718	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08		31944718	101907177	42	47989											
HAUS4	54930	broad.mit.edu	37	chr14	23416936	23416936	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaagtgaggcagcggagaAgcacctgagcccaagatgga	14	3	15	9	1	0	4	0	2	0	2	0	6	0	5	2	3	3	3	2	3	3	0			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr14:23416936A>C	ENST00000206474.7	-	8	965	c.713T>G	c.(712-714)cTt>cGt	p.L238R	HAUS4_ENST00000490506.1_Missense_Mutation_p.L114R|HAUS4_ENST00000555986.1_Missense_Mutation_p.L193R|HAUS4_ENST00000347758.2_Missense_Mutation_p.L112R|HAUS4_ENST00000397409.4_Missense_Mutation_p.L112R|HAUS4_ENST00000554446.1_5'UTR|RP11-298I3.1_ENST00000548322.1_RNA|HAUS4_ENST00000342454.8_Missense_Mutation_p.L193R|RP11-298I3.1_ENST00000548819.1_RNA|HAUS4_ENST00000541587.1_Missense_Mutation_p.L238R|HAUS4_ENST00000555367.1_Missense_Mutation_p.L193R|RP11-298I3.5_ENST00000555074.1_Silent_p.A67A			Q9H6D7	HAUS4_HUMAN	HAUS augmin-like complex, subunit 4	238					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|spindle				breast(3)|cervix(1)|endometrium(2)|lung(6)|ovary(1)|skin(1)	14						GCAGCGGAGAAGCACCTGAGC	0.507													C	23416936	A	C	23416936	3	2	555	1	0	0	0	0	1	0	0	0	7023	72	3	5	390	5	HAUS4	14	23416936	Missense_Mutation	SNP	A	TCGA-HT-7694-01A-11D-2253-08		23416936	83932604	43	47990											
SIN3A	25942	broad.mit.edu	37	chr15	75682071	75682090	+	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	ATCTTCATACTGTGATGAGT	-																															gtgaacatctctctcagtgaAtcttcatactgtgatgagtc																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:75682071_75682090delATCTTCATACTGTGATGAGT	ENST00000394947.3	-	16	3238_3257	c.2924_2943delACTCATCACAGTATGAAGAT	c.(2923-2943)gactcatcacagtatgaagatfs	p.DSSQYED975fs	SIN3A_ENST00000394949.4_Frame_Shift_Del_p.DSSQYED975fs|SIN3A_ENST00000360439.4_Frame_Shift_Del_p.DSSQYED975fs	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	975					blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						CTCTCAGTGAATCTTCATACTGTGATGAGTCTATGTTGCC	0.491													-	75682090	ATCTTCATACTGTGATGAGT	-	75682071	7	5	555	1	0	1	0	1	0	0	0	0	14419	98	4	0	902	0	SIN3A	15	75682071	Frame_Shift_Del	DEL	ATCTTCATACTGTGATGAGT	TCGA-HT-7694-01A-11D-2253-08		75682071	26849321	44	47991											
KIAA1024	23251	broad.mit.edu	37	chr15	79748620	79748620	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttcgacctgtcgcagcttgCcaaactgagaagtgtgctct	8	11	11	11	2	1	1	0	1	1	1	3	3	1	1	2	0	4	4	2	0	2	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr15:79748620C>A	ENST00000305428.3	+	2	206	c.131C>A	c.(130-132)gCc>gAc	p.A44D		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	44						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TCGCAGCTTGCCAAACTGAGA	0.468													A	79748620	C	A	79748620	3	1	555	1	0	0	0	0	1	0	0	0	8263	739	26	4	133	4	KIAA1024	15	79748620	Missense_Mutation	SNP	C	TCGA-HT-7694-01A-11D-2253-08	4066549	79748620	22782772	45	47992											
PDP2	57546	broad.mit.edu	37	chr16	66919405	66919405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgaggccccaggataagttCcttgtgctggcctcagatgg	7	10	13	11	0	1	2	1	1	0	1	2	3	2	3	4	4	1	2	4	4	1	3			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr16:66919405C>T	ENST00000311765.2	+	2	1552	c.1218C>T	c.(1216-1218)ttC>ttT	p.F406F	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	406					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		AGGATAAGTTCCTTGTGCTGG	0.567													T	66919405	C	T	66919405	2	4	555	1	0	0	0	0	0	0	0	1	11762	854	30	2		2	PDP2	16	66919405	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08		66919405	23435348	46	47993											
NCOR1	9611	broad.mit.edu	37	chr17	15978996	15978996	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctctgttggtatgccagtCtggggcagagccggggtgcc	4	9	17	11	1	2	1	0	0	2	1	2	1	2	1	4	5	3	3	4	5	1	2			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr17:15978996C>T	ENST00000268712.3	-	27	3779	c.3522G>A	c.(3520-3522)caG>caA	p.Q1174Q	NCOR1_ENST00000395851.1_Silent_p.Q1190Q|NCOR1_ENST00000395857.3_Intron	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1174	Interaction with ETO.				cellular lipid metabolic process|chromatin modification|negative regulation of JNK cascade|regulation of glycolysis by negative regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by negative regulation of transcription from an RNA polymerase II promoter|spindle assembly|transcription from RNA polymerase II promoter	nuclear chromatin|spindle microtubule|transcriptional repressor complex	histone deacetylase binding|transcription corepressor activity|transcription regulatory region DNA binding			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GTATGCCAGTCTGGGGCAGAG	0.493													T	15978996	C	T	15978996	2	4	555	1	0	0	0	0	0	0	0	1	10311	912	32	2		2	NCOR1	17	15978996	Silent	SNP	C	TCGA-HT-7694-01A-11D-2253-08		15978996	65216214	47	47994											
RBBP8	5932	broad.mit.edu	37	chr18	20602227	20602227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttccactcagacttgtatgGaaagaggtgagagtatagat	13	11	11	6	0	1	4	1	1	0	4	2	6	2	5	1	2	0	2	1	2	4	5			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr18:20602227G>A	ENST00000399725.2	+	17	2910	c.2493G>A	c.(2491-2493)tgG>tgA	p.W831*	RBBP8_ENST00000581687.1_Missense_Mutation_p.E42K|RBBP8_ENST00000360790.5_Missense_Mutation_p.E869K|RBBP8_ENST00000399722.2_Missense_Mutation_p.E864K|RBBP8_ENST00000327155.5_Missense_Mutation_p.E864K	NM_203292.1	NP_976037.1	Q99708	COM1_HUMAN	retinoblastoma binding protein 8	0					cell cycle checkpoint|DNA double-strand break processing involved in repair via single-strand annealing|meiosis|regulation of transcription from RNA polymerase II promoter	nucleus	damaged DNA binding|protein binding|single-stranded DNA specific endodeoxyribonuclease activity			central_nervous_system(1)|cervix(2)|endometrium(5)|large_intestine(2)|lung(9)|ovary(3)|prostate(1)|skin(1)	24	all_cancers(21;4.34e-05)|all_epithelial(16;8.3e-07)|Lung NSC(20;0.0107)|Colorectal(14;0.0202)|all_lung(20;0.0291)|Ovarian(20;0.19)		OV - Ovarian serous cystadenocarcinoma(1;0.00196)			GACTTGTATGGAAAGAGGTGA	0.418								Homologous recombination					A	20602227	G	A	20602227	4	1	555	1	0	0	0	0	0	1	0	0	13193	1184	41	2	2656	2	RBBP8	18	20602227	Nonsense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08		20602227	57475021	48	47995											
LTBP4	8425	broad.mit.edu	37	chr19	41125346	41125346	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtctgccccaacagcccGgaagagtttgaccccatgac	9	8	10	14	1	1	3	0	2	1	1	1	4	1	4	5	1	3	1	5	1	2	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:41125346G>T	ENST00000308370.7	+	26	3363	c.3363G>T	c.(3361-3363)ccG>ccT	p.P1121P	LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000204005.9_Silent_p.P1084P|LTBP4_ENST00000545697.1_Silent_p.P489P|LTBP4_ENST00000396819.3_Silent_p.P1054P|LTBP4_ENST00000243562.9_Silent_p.P175P	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1122	Pro-rich.				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CCAACAGCCCGGAAGAGTTTG	0.532													T	41125346	G	T	41125346	2	4	555	1	0	0	0	0	0	0	0	1	9146	1103	39	4		4	LTBP4	19	41125346	Silent	SNP	G	TCGA-HT-7694-01A-11D-2253-08		41125346	18003637	49	47996											
CIC	23152	broad.mit.edu	37	chr19	42793443	42793444	+	Frame_Shift_Ins	INS	-	-	C																															ccttggcggccactgggcggINScccccgctgctgcccacccg																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:42793443_42793444insC	ENST00000572681.2	+	9	4040_4041	c.3972_3973insC	c.(3973-3975)cccfs	p.P1325fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.P416fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P416fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	416					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACTGGGCGGCCCCCGCTGCT	0.644			"Mis, F, S"		oligodendroglioma								C	42793444	-	C	42793443	7	5	555	1	0	1	1	0	0	0	0	0	3454	1190	42	0	1275	0	CIC	19	42793443	Frame_Shift_Ins	INS	-	TCGA-HT-7694-01A-11D-2253-08	1668097	42793443	16335540	50	47997											
GIPR	2696	broad.mit.edu	37	chr19	46180213	46180213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcccctccctaggccctcGctgcctgccgcacggcccag	3	6	11	21	3	0	0	0	0	0	0	2	0	1	0	7	3	2	2	7	3	1	1			TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr19:46180213G>A	ENST00000590918.1	+	8	739	c.640G>A	c.(640-642)Gct>Act	p.A214T	GIPR_ENST00000263281.3_Missense_Mutation_p.A214T|GIPR_ENST00000304207.8_Missense_Mutation_p.A178T	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor	214					generation of precursor metabolites and energy|response to nutrient	integral to membrane|plasma membrane				endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		CTAGGCCCTCGCTGCCTGCCG	0.662													A	46180213	G	A	46180213	3	1	555	1	0	0	0	0	1	0	0	0	6451	1087	38	1	666	1	GIPR	19	46180213	Missense_Mutation	SNP	G	TCGA-HT-7694-01A-11D-2253-08	3386770	46180213	12948770	51	47998											
PANK2	80025	broad.mit.edu	37	chr20	3891325	3891328	+	Frame_Shift_Del	DEL	TTAC	TTAC	-																															aatggacggtcacagtgctaTtactttgaaaaccctgctga																										TCGA-HT-7694-01A-11D-2253-08	TCGA-HT-7694-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d44bae99-4be5-4d02-a261-f341afb1ebff	83cb6500-9764-4d02-b833-e3c72c7d880a	g.chr20:3891325_3891328delTTAC	ENST00000497424.1	+	3	521_524	c.210_213delTTAC	c.(208-213)tattacfs	p.YY70fs	PANK2_ENST00000316562.4_Frame_Shift_Del_p.YY361fs|PANK2_ENST00000464452.1_3'UTR|PANK2_ENST00000610179.1_Frame_Shift_Del_p.YY238fs	NM_024960.4|NM_153640.2	NP_079236.3|NP_705904.1	Q9BZ23	PANK2_HUMAN	pantothenate kinase 2	361					cell death|coenzyme A biosynthetic process|pantothenate metabolic process	mitochondrial intermembrane space|nucleus	ATP binding|pantothenate kinase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CACAGTGCTATTACTTTGAAAACC	0.402													-	3891328	TTAC	-	3891325	7	5	555	1	0	1	0	1	0	0	0	0	11493	1500	52	0	1093	0	PANK2	20	3891325	Frame_Shift_Del	DEL	TTAC	TCGA-HT-7694-01A-11D-2253-08		3891325	59134195	52	47999											
MAST2	23139	broad.mit.edu	37	chr1	46497240	46497240	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcagccacagccctctCactcctcattccttcgggtg	5	10	7	19	2	3	0	3	0	1	0	7	0	5	0	5	1	2	0	5	1	0	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:46497240C>A	ENST00000361297.2	+	24	3453	c.3170C>A	c.(3169-3171)tCa>tAa	p.S1057*	MAST2_ENST00000372009.2_Nonsense_Mutation_p.S987*	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	1057					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					ACAGCCCTCTCACTCCTCATT	0.607													A	46497240	C	A	46497240	4	1	556	1	0	0	0	0	0	1	0	0	9400	838	29	4	3264	4	MAST2	1	46497240	Nonsense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		46497240	202753381	1	48000											
GBP5	115362	broad.mit.edu	37	chr1	89730624	89730624	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgctgatggcattgacAtaggtcagcaccaggttctt	9	11	10	11	0	2	2	1	2	1	0	2	2	2	2	2	3	2	4	2	3	1	4			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr1:89730624A>G	ENST00000343435.5	-	8	1430	c.894T>C	c.(892-894)taT>taC	p.Y298Y	GBP5_ENST00000370459.3_Silent_p.Y298Y|RP4-620F22.2_ENST00000437128.1_RNA	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	298						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		TGGCATTGACATAGGTCAGCA	0.448													G	89730624	A	G	89730624	2	3	556	1	0	0	0	0	0	0	0	1	6331	224	8	3		3	GBP5	1	89730624	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	43233384	89730624	159519997	2	48001											
ASXL2	55252	broad.mit.edu	37	chr2	25972673	25972673	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgattctcagtgacacgtggCctcttctcccagctcacagg	7	10	9	15	2	4	1	2	1	3	0	6	2	4	1	2	2	1	1	2	2	0	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:25972673C>T	ENST00000435504.4	-	12	2045	c.1752G>A	c.(1750-1752)agG>agA	p.R584R	ASXL2_ENST00000272341.4_Silent_p.R324R|ASXL2_ENST00000404843.1_Silent_p.R324R|ASXL2_ENST00000336112.4_Silent_p.R556R			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	584					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGACACGTGGCCTCTTCTCCC	0.532													T	25972673	C	T	25972673	2	4	556	1	0	0	0	0	0	0	0	1	1072	738	26	2		2	ASXL2	2	25972673	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		25972673	217226700	3	48002											
OTOF	9381	broad.mit.edu	37	chr2	26688556	26688556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacgtggagtaggtctgggCgatgccgcaggtggcgcggt	6	8	19	8	5	1	0	0	0	1	0	1	2	1	1	1	6	2	2	1	6	2	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:26688556C>T	ENST00000272371.2	-	38	4909	c.4783G>A	c.(4783-4785)Gcc>Acc	p.A1595T	OTOF_ENST00000403946.3_Missense_Mutation_p.A1595T|OTOF_ENST00000338581.6_Missense_Mutation_p.A828T|OTOF_ENST00000339598.3_Missense_Mutation_p.A828T|OTOF_ENST00000402415.3_Missense_Mutation_p.A905T	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1595					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGGTCTGGGCGATGCCGCAG	0.582													T	26688556	C	T	26688556	3	4	556	1	0	0	0	0	1	0	0	0	11379	768	27	1	1431	1	OTOF	2	26688556	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	715883	26688556	216510817	4	48003											
HEATR5B	54497	broad.mit.edu	37	chr2	37268386	37268386	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataacgatgcaaacaaccaaGagccaatgaatgaccagtcc	18	5	7	11	1	0	3	0	2	0	1	1	4	1	3	4	0	5	1	4	0	6	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:37268386G>C	ENST00000233099.5	-	19	2841	c.2746C>G	c.(2746-2748)Ctt>Gtt	p.L916V	HEATR5B_ENST00000354531.2_Missense_Mutation_p.L916V	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	916							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AAACAACCAAGAGCCAATGAA	0.418													C	37268386	G	C	37268386	3	2	556	1	0	0	0	0	1	0	0	0	7087	942	33	4	3541	4	HEATR5B	2	37268386	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	10579830	37268386	205930987	5	48004											
AFF3	3899	broad.mit.edu	37	chr2	100175384	100175384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atactttacagcgtggtcccTtttgagtcgaaacatccgcc	9	12	8	12	3	0	1	0	1	0	0	3	2	2	1	3	1	4	0	3	1	3	5			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:100175384T>C	ENST00000409236.2	-	20	3350	c.3238A>G	c.(3238-3240)Agg>Ggg	p.R1080G	AFF3_ENST00000409579.1_Missense_Mutation_p.R1105G|AFF3_ENST00000317233.4_Missense_Mutation_p.R1080G|AFF3_ENST00000356421.2_Missense_Mutation_p.R1105G			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						GCGTGGTCCCTTTTGAGTCGA	0.483											OREG0014830	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	100175384	T	C	100175384	3	2	556	1	0	0	0	0	1	0	0	0	358	1608	56	3	458	3	AFF3	2	100175384	Missense_Mutation	SNP	T	TCGA-HT-7695-01A-11D-2253-08	62906998	100175384	143023989	6	48005											
ARHGEF4	50649	broad.mit.edu	37	chr2	131797874	131797874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcgcgcagacatgttcaGcgaggagcagctgcgtacca	11	5	13	12	4	1	1	1	0	0	1	1	3	1	2	1	1	6	5	1	1	2	2	rs117266463	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr2:131797874G>A	ENST00000392953.3	+	8	1484	c.965G>A	c.(964-966)aGc>aAc	p.S322N	ARHGEF4_ENST00000428230.2_Intron|ARHGEF4_ENST00000409303.1_Intron|ARHGEF4_ENST00000439368.2_3'UTR|ARHGEF4_ENST00000355771.3_Missense_Mutation_p.S251N|ARHGEF4_ENST00000326016.5_Missense_Mutation_p.S322N|ARHGEF4_ENST00000525839.1_Missense_Mutation_p.S322N	NM_032995.1	NP_127462.1	Q9NR80	ARHG4_HUMAN	Rho guanine nucleotide exchange factor (GEF) 4	322	DH.				apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|lamellipodium assembly|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|ruffle membrane	protein domain specific binding|Rac guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|cervix(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(4)	29		Prostate(154;0.055)		BRCA - Breast invasive adenocarcinoma(221;0.097)		GACATGTTCAGCGAGGAGCAG	0.682													A	131797874	G	A	131797874	3	1	556	1	0	0	0	0	1	0	0	0	911	971	34	2	987	2	ARHGEF4	2	131797874	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	31622490	131797874	111401499	7	48006											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	556	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08	77315238	209113112	34086261	8	48007											
CELSR3	1951	broad.mit.edu	37	chr3	48684252	48684252	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcagtccccctaaggtgcgGtaaacgaggagaatgataat	14	7	12	8	2	0	2	0	1	0	1	1	4	1	2	2	3	3	2	2	3	5	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:48684252G>A	ENST00000544264.1	-	22	7534	c.7254C>T	c.(7252-7254)taC>taT	p.Y2418Y	CELSR3_ENST00000164024.4_Silent_p.Y2413Y			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	2413					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTAAGGTGCGGTAAACGAGGA	0.602													A	48684252	G	A	48684252	2	1	556	1	0	0	0	0	0	0	0	1	3253	1256	44	2		2	CELSR3	3	48684252	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		48684252	149338178	9	48008											
ITIH1	3697	broad.mit.edu	37	chr3	52812973	52812973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagtacagcagatggaaaCgcatttatcggagacataaa	16	8	10	7	2	0	2	0	0	0	2	1	4	0	3	0	2	4	4	0	2	5	4	rs151186293	byFrequency	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr3:52812973C>T	ENST00000273283.2	+	4	345	c.321C>T	c.(319-321)aaC>aaT	p.N107N	ITIH1_ENST00000542827.1_Silent_p.N107N|ITIH1_ENST00000540715.1_5'UTR	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	107	VIT.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		CAGATGGAAACGCATTTATCG	0.547													T	52812973	C	T	52812973	2	4	556	1	0	0	0	0	0	0	0	1	7961	535	19	1		1	ITIH1	3	52812973	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	4128721	52812973	145209457	10	48009											
BMP2K	55589	broad.mit.edu	37	chr4	79832652	79832652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgtcctctcgccaaaggcGcacaaagcaggatatgtcca	12	7	9	13	2	1	0	0	0	1	0	4	1	3	1	3	2	1	2	3	2	3	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr4:79832652G>A	ENST00000335016.5	+	16	3117	c.2951G>A	c.(2950-2952)cGc>cAc	p.R984H	PAQR3_ENST00000295462.3_Intron	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	984						nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						CGCCAAAGGCGCACAAAGCAG	0.502													A	79832652	G	A	79832652	3	1	556	1	0	0	0	0	1	0	0	0	1466	1087	38	1	3051	1	BMP2K	4	79832652	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		79832652	111321624	11	48010											
PCDHA13	56136	broad.mit.edu	37	chr5	140263554	140263554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgctccggcgctgctgacGcccggggctggcagcgcggg	4	4	18	15	7	0	1	0	1	0	0	1	1	1	1	2	5	3	5	2	5	1	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr5:140263554G>A	ENST00000289272.2	+	1	1701	c.1701G>A	c.(1699-1701)acG>acA	p.T567T	PCDHA6_ENST00000527624.1_Intron|PCDHA13_ENST00000409494.1_Silent_p.T567T|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1														NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGCTGACGCCCGGGGCTG	0.711													A	140263554	G	A	140263554	2	1	556	1	0	0	0	0	0	0	0	1	11599	1074	38	1		1	PCDHA13	5	140263554	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		140263554	40651706	12	48011											
ZBTB9	221504	broad.mit.edu	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	17	5	18	1	0	1	6	1	2	0	4	1	11	1	11	0	6	0	0	0	6	4	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552													A	33423522	G	A	33423522	2	1	556	1	0	0	0	0	0	0	0	1	17659	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		33423522	137691545	13	48012											
CNR1	1268	broad.mit.edu	37	chr6	88854091	88854091	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggacggcgtggctgtgAgccttccagagaatatacat	10	9	13	9	3	0	2	0	1	0	1	1	4	1	3	2	3	3	1	2	3	3	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:88854091A>G	ENST00000537554.1	-	2	4465	c.903T>C	c.(901-903)gcT>gcC	p.A301A	CNR1_ENST00000549716.1_Silent_p.A240A|CNR1_ENST00000468898.1_Silent_p.A268A|CNR1_ENST00000428600.2_Silent_p.A301A|CNR1_ENST00000369501.2_Silent_p.A301A|CNR1_ENST00000549890.1_Silent_p.A301A|CNR1_ENST00000369499.2_Silent_p.A301A|CNR1_ENST00000535130.1_Silent_p.A301A|CNR1_ENST00000362094.5_3'UTR	NM_001160226.1|NM_001160258.1	NP_001153698.1|NP_001153730.1	P21554	CNR1_HUMAN	cannabinoid receptor 1 (brain)	301					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	cannabinoid receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(10)|urinary_tract(1)	37		all_cancers(76;8.24e-09)|Acute lymphoblastic leukemia(125;2.15e-10)|Prostate(29;4.11e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;0.00011)		BRCA - Breast invasive adenocarcinoma(108;0.15)	Marinol(DB00470)|Nabilone(DB00486)|Rimonabant(DB06155)	CGTGGCTGTGAGCCTTCCAGA	0.537													G	88854091	A	G	88854091	2	3	556	1	0	0	0	0	0	0	0	1	3662	291	11	3		3	CNR1	6	88854091	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	55430569	88854091	82260976	14	48013											
CDK19	23097	broad.mit.edu	37	chr6	110953281	110953281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcaaaagttctggagcccGataccaaaatgtcacaacta	17	7	7	10	1	2	0	1	0	1	0	2	2	2	1	2	1	4	2	2	1	8	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr6:110953281G>A	ENST00000368911.3	-	6	777	c.598C>T	c.(598-600)Cgg>Tgg	p.R200W	CDK19_ENST00000413605.2_Missense_Mutation_p.R76W|CDK19_ENST00000323817.3_Missense_Mutation_p.R140W	NM_015076.3	NP_055891.1	Q9BWU1	CDK19_HUMAN	cyclin-dependent kinase 19	200	Protein kinase.						ATP binding|cyclin-dependent protein kinase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(2)|prostate(2)|skin(1)	22						TCTGGAGCCCGATACCAAAAT	0.358													A	110953281	G	A	110953281	3	1	556	1	0	0	0	0	1	0	0	0	3165	1057	37	1	942	1	CDK19	6	110953281	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	22099190	110953281	60161786	15	48014											
LRRCC1	85444	broad.mit.edu	37	chr8	86049720	86049720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttctctagcccaaaatcGtggaaaattggaggctcaaa	14	10	8	9	1	3	0	1	0	2	0	5	2	3	2	1	3	1	1	1	3	6	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr8:86049720G>A	ENST00000414626.2	+	14	3180	c.2291G>A	c.(2290-2292)cGt>cAt	p.R764H	LRRCC1_ENST00000360375.3_Missense_Mutation_p.R784H			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	784					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						GCCCAAAATCGTGGAAAATTG	0.333													A	86049720	G	A	86049720	3	1	556	1	0	0	0	0	1	0	0	0	9096	1145	40	1	2409	1	LRRCC1	8	86049720	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		86049720	60314302	16	48015											
FAM189A2	9413	broad.mit.edu	37	chr9	71992346	71992346	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaccgtctgcttggtggccGctgccctccgctacctccag	3	9	10	19	3	1	0	0	0	1	0	3	0	3	0	7	2	3	3	7	2	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:71992346G>A	ENST00000303068.7	+	0	360				FAM189A2_ENST00000257515.8_Missense_Mutation_p.A105T|FAM189A2_ENST00000455972.1_Missense_Mutation_p.A105T			Q15884	F1892_HUMAN	family with sequence similarity 189, member A2							integral to membrane		p.A105T(1)		endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						CTTGGTGGCCGCTGCCCTCCG	0.557													A	71992346	G	A	71992346	1	1	556	1	0	0	0	0	0	0	0	0	5563	1087	38	1		1	FAM189A2	9	71992346	Translation_Start_Site	SNP	G	TCGA-HT-7695-01A-11D-2253-08		71992346	69221085	17	48016											
CORO2A	7464	broad.mit.edu	37	chr9	100897160	100897160	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaggcctactctgcgCgcgtggcccacgagttcctt	5	9	10	17	4	1	0	0	0	1	0	3	1	3	0	5	2	2	1	5	2	1	3	rs147316581	by1000genomes	TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:100897160C>T	ENST00000343933.5	-	4	653	c.396G>A	c.(394-396)gcG>gcA	p.A132A	CORO2A_ENST00000375077.4_Silent_p.A132A	NM_003389.3	NP_003380.3	Q92828	COR2A_HUMAN	coronin, actin binding protein, 2A	132					actin cytoskeleton organization|intracellular signal transduction	actin cytoskeleton|transcriptional repressor complex	actin filament binding	p.A132A(1)		endometrium(2)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|skin(4)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				CTACTCTGCGCGCGTGGCCCA	0.602													T	100897160	C	T	100897160	2	4	556	1	0	0	0	0	0	0	0	1	3787	755	27	1		1	CORO2A	9	100897160	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08	28904814	100897160	40316271	18	48017											
RAPGEF1	2889	broad.mit.edu	37	chr9	134455699	134455699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgttgaactgctgccaccGcttggagaagttcactttcc	8	12	10	11	1	1	2	1	1	0	1	2	4	2	2	3	1	3	4	3	1	2	4			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr9:134455699G>A	ENST00000372195.1	-	23	3328	c.3085C>T	c.(3085-3087)Cgg>Tgg	p.R1029W	RAPGEF1_ENST00000372190.3_Missense_Mutation_p.R1030W|RAPGEF1_ENST00000372189.3_Missense_Mutation_p.R1012W			Q13905	RPGF1_HUMAN	Rap guanine nucleotide exchange factor (GEF) 1	1012	Ras-GEF.				activation of MAPKK activity|nerve growth factor receptor signaling pathway|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|endosome	guanyl-nucleotide exchange factor activity|SH3 domain binding			NS(2)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|lung(9)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	39		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.19e-05)|Epithelial(140;0.000364)		TGCTGCCACCGCTTGGAGAAG	0.632													A	134455699	G	A	134455699	3	1	556	1	0	0	0	0	1	0	0	0	13131	1086	38	1	207	1	RAPGEF1	9	134455699	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	33558539	134455699	6757732	19	48018											
DCHS1	8642	broad.mit.edu	37	chr11	6662142	6662142	+	Frame_Shift_Del	DEL	G	G	-																															cagcagggcctgggccctccGggggggtgaaccaccatcat																										TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:6662142delG	ENST00000299441.3	-	2	1114	c.703delC	c.(703-705)cggfs	p.R236fs		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	236	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGCCCTCCGGGGGGGTGAA	0.587													-	6662142	G	-	6662142	7	5	556	1	0	1	0	1	0	0	0	0	4321	1115	39	0	9273	0	DCHS1	11	6662142	Frame_Shift_Del	DEL	G	TCGA-HT-7695-01A-11D-2253-08		6662142	128344374	20	48019											
SLC22A8	9376	broad.mit.edu	37	chr11	62760876	62760876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccagggaggagcactgatggGgccagaggcagtgactgacc	10	4	17	10	0	0	4	0	3	0	1	0	6	0	6	3	5	1	2	3	5	0	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr11:62760876G>A	ENST00000311438.8	-	9	1548	c.1549C>T	c.(1549-1551)Ccc>Tcc	p.P517S	SLC22A8_ENST00000535878.1_Intron|SLC22A8_ENST00000336232.2_Intron|SLC22A8_ENST00000430500.2_Intron|SLC22A8_ENST00000545207.1_Intron			Q8TCC7	S22A8_HUMAN	solute carrier family 22 (organic anion transporter), member 8	517					response to toxin	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|organic anion transmembrane transporter activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28						GCACTGATGGGGCCAGAGGCA	0.612													A	62760876	G	A	62760876	3	1	556	1	0	0	0	0	1	0	0	0	14554	1247	43	2		2	SLC22A8	11	62760876	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	56098734	62760876	72245640	21	48020											
SPATA5L1	79029	broad.mit.edu	37	chr15	45713342	45713342	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaaccgtcgttaagttgCaaggacttggctttatatga	12	13	10	6	2	0	1	0	1	0	0	1	2	0	2	1	2	2	5	1	2	6	7			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr15:45713342C>T	ENST00000305560.6	+	8	2295	c.2196C>T	c.(2194-2196)tgC>tgT	p.C732C	SPATA5L1_ENST00000533841.1_3'UTR	NM_024063.2	NP_076968.2	Q9BVQ7	SPA5L_HUMAN	spermatogenesis associated 5-like 1	732						cytoplasm	ATP binding|nucleoside-triphosphatase activity			kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	14		Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;7.31e-17)|GBM - Glioblastoma multiforme(94;6.28e-07)		CGTTAAGTTGCAAGGACTTGG	0.353													T	45713342	C	T	45713342	2	4	556	1	0	0	0	0	0	0	0	1	15108	718	25	2		2	SPATA5L1	15	45713342	Silent	SNP	C	TCGA-HT-7695-01A-11D-2253-08		45713342	56818050	22	48021											
SEZ6L2	26470	broad.mit.edu	37	chr16	29897045	29897045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atagatcacgggggatagggGgctgccccctgagcgcacca	9	5	15	12	2	1	2	1	1	0	1	1	3	1	3	3	4	2	2	3	4	2	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:29897045G>A	ENST00000308713.5	-	8	1761	c.1234C>T	c.(1234-1236)Ccc>Tcc	p.P412S	SEZ6L2_ENST00000537485.1_Missense_Mutation_p.P368S|SEZ6L2_ENST00000346932.5_Missense_Mutation_p.P298S|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.P342S	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	412	CUB 2.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGGGATAGGGGGCTGCCCCCT	0.602													A	29897045	G	A	29897045	3	1	556	1	0	0	0	0	1	0	0	0	14237	1232	43	2	1581	2	SEZ6L2	16	29897045	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		29897045	60457708	23	48022											
RLTPR	146206	broad.mit.edu	37	chr16	67688719	67688719	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaacagaactggctccAtcctttgaacagcgggtaca	13	7	11	10	1	0	3	0	1	0	2	2	4	2	3	2	3	5	2	2	3	4	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr16:67688719A>G	ENST00000334583.6	+	32	3949	c.3621A>G	c.(3619-3621)ccA>ccG	p.P1207P	RLTPR_ENST00000545661.1_Silent_p.P1171P	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1207										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		AACTGGCTCCATCCTTTGAAC	0.622													G	67688719	A	G	67688719	2	3	556	1	0	0	0	0	0	0	0	1	13485	204	8	3		3	RLTPR	16	67688719	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	37791674	67688719	22666034	24	48023											
MYH3	4621	broad.mit.edu	37	chr17	10533673	10533673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctcggcctcatctagacGatgctgcaggtccttcaccg	6	10	10	15	3	3	1	2	0	1	1	5	2	4	1	3	2	3	3	3	2	1	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:10533673G>A	ENST00000583535.1	-	37	5476	c.5389C>T	c.(5389-5391)Cgt>Tgt	p.R1797C	MYH3_ENST00000226209.7_Missense_Mutation_p.R1797C	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1797					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						TCATCTAGACGATGCTGCAGG	0.607													A	10533673	G	A	10533673	3	1	556	1	0	0	0	0	1	0	0	0	10112	1058	37	1	453	1	MYH3	17	10533673	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		10533673	70661537	25	48024											
SCN4A	6329	broad.mit.edu	37	chr17	62043903	62043903	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctccaggaagtagaagttCcctttgggagtcagaggcca	10	8	12	11	0	1	2	1	0	0	2	3	4	3	4	4	3	0	2	4	3	3	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr17:62043903C>T	ENST00000435607.1	-	7	1114	c.1038G>A	c.(1036-1038)ggG>ggA	p.G346G	SCN4A_ENST00000578147.1_Splice_Site_p.G346G	NM_000334.4	NP_000325.4	P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	346					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	AGTAGAAGTTCCCTTTGGGAG	0.582													T	62043903	C	T	62043903	5	4	556	1	0	0	0	0	0	0	1	0	14013	869	30	2	4544	2	SCN4A	17	62043903	Splice_Site	SNP	C	TCGA-HT-7695-01A-11D-2253-08	51510230	62043903	19151307	26	48025											
CIC	23152	broad.mit.edu	37	chr19	42798840	42798840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaccctggaccagcgccGggccctggtcatgcagctct	5	6	13	17	3	2	0	1	0	1	0	2	1	2	1	4	3	3	3	4	3	0	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr19:42798840G>A	ENST00000572681.2	+	20	7198	c.7130G>A	c.(7129-7131)cGg>cAg	p.R2377Q	CIC_ENST00000575354.2_Missense_Mutation_p.R1471Q|CIC_ENST00000160740.3_Missense_Mutation_p.R1469Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1471					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCAGCGCCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								A	42798840	G	A	42798840	3	1	556	1	0	0	0	0	1	0	0	0	3454	1116	39	1	4486	1	CIC	19	42798840	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08		42798840	16330143	27	48026											
WFDC10A	140832	broad.mit.edu	37	chr20	44258532	44258532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggaggataccgtgacaagaAgaggatgcagagtaggtgat	14	6	17	4	1	0	5	0	2	0	3	0	8	0	8	1	4	2	2	1	4	4	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr20:44258532A>T	ENST00000372643.3	+	1	368	c.80A>T	c.(79-81)aAg>aTg	p.K27M	WFDC9_ENST00000326000.1_Intron	NM_080753.2	NP_542791.1	Q9H1F0	WF10A_HUMAN	WAP four-disulfide core domain 10A	27						extracellular region	serine-type endopeptidase inhibitor activity			large_intestine(2)	2		Myeloproliferative disorder(115;0.0122)				CGTGACAAGAAGAGGATGCAG	0.587											OREG0025983	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	44258532	A	T	44258532	3	4	556	1	0	0	0	0	1	0	0	0	17449	72	3	5	82	5	WFDC10A	20	44258532	Missense_Mutation	SNP	A	TCGA-HT-7695-01A-11D-2253-08		44258532	18766988	28	48027											
C1QTNF6	114904	broad.mit.edu	37	chr22	37578623	37578623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggccgtcttgcggcccaCtgagaaggcgaagaagcgct	9	5	15	12	4	1	2	0	1	1	2	1	4	1	2	2	3	2	1	2	3	3	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chr22:37578623C>T	ENST00000337843.2	-	3	517	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	RP1-151B14.6_ENST00000419128.1_RNA|C1QTNF6_ENST00000397110.2_Missense_Mutation_p.V148M|C1QTNF6_ENST00000255836.6_Splice_Site|C1QTNF6_ENST00000470655.1_Splice_Site	NM_031910.3	NP_114116.3	Q9BXI9	C1QT6_HUMAN	C1q and tumor necrosis factor related protein 6	129	C1q.					collagen				breast(1)|large_intestine(2)|lung(6)|stomach(1)|upper_aerodigestive_tract(1)	11						TTGCGGCCCACTGAGAAGGCG	0.657													T	37578623	C	T	37578623	3	4	556	1	0	0	0	0	1	0	0	0	1987	565	20	2	398	2	C1QTNF6	22	37578623	Missense_Mutation	SNP	C	TCGA-HT-7695-01A-11D-2253-08		37578623	13725943	29	48028											
SHROOM2	357	broad.mit.edu	37	chrX	9905237	9905237	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccatcaagatcgtgcactcGgagagccagccagagaagga	13	4	12	12	2	1	3	1	0	0	3	3	6	1	4	3	2	3	1	3	2	2	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:9905237G>A	ENST00000380913.3	+	7	3741	c.3651G>A	c.(3649-3651)tcG>tcA	p.S1217S	SHROOM2_ENST00000418909.2_Silent_p.S52S	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1217					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TCGTGCACTCGGAGAGCCAGC	0.587													A	9905237	G	A	9905237	2	1	556	1	0	0	0	0	0	0	0	1	14388	1103	39	1		1	SHROOM2	23	9905237	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08		9905237	145365323	30	48029											
FIGF	2277	broad.mit.edu	37	chrX	15365420	15365420	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttacagacacactcgcaAcgatcttcgtcaaacatcat	13	11	5	12	3	3	1	2	0	1	1	5	2	3	1	0	0	3	2	0	0	3	3			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:15365420A>G	ENST00000297904.3	-	6	1233	c.804T>C	c.(802-804)cgT>cgC	p.R268R	FIGF_ENST00000488351.1_5'UTR	NM_004469.4	NP_004460.1	O43915	VEGFD_HUMAN	c-fos induced growth factor (vascular endothelial growth factor D)	268	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis|cell differentiation|induction of positive chemotaxis|platelet activation|platelet degranulation|positive regulation of cell division|positive regulation of cell proliferation|positive regulation of mast cell chemotaxis|vascular endothelial growth factor receptor signaling pathway	extracellular space|membrane|platelet alpha granule lumen	chemoattractant activity|growth factor activity|platelet-derived growth factor receptor binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	17	Hepatocellular(33;0.183)					CACACTCGCAACGATCTTCGT	0.473													G	15365420	A	G	15365420	2	3	556	1	0	0	0	0	0	0	0	1	5938	30	2	3		3	FIGF	23	15365420	Silent	SNP	A	TCGA-HT-7695-01A-11D-2253-08	5460183	15365420	139905140	31	48030											
HEPH	9843	broad.mit.edu	37	chrX	65427079	65427079	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaaggatgggctcctgggTtccagatacaagaaagctgt	13	8	12	8	0	0	2	0	0	0	2	2	3	2	3	2	3	3	3	2	3	5	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:65427079T>A	ENST00000519389.1	+	14	2675	c.2496T>A	c.(2494-2496)ggT>ggA	p.G832G	HEPH_ENST00000419594.1_Silent_p.G589G|HEPH_ENST00000343002.2_Silent_p.G778G|HEPH_ENST00000336279.5_Silent_p.G511G|HEPH_ENST00000374727.3_Silent_p.G781G|HEPH_ENST00000441993.2_Silent_p.G781G			Q9BQS7	HEPH_HUMAN	hephaestin	778	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						GGCTCCTGGGTTCCAGATACA	0.463													A	65427079	T	A	65427079	2	1	556	1	0	0	0	0	0	0	0	1	7109	1712	60	5		5	HEPH	23	65427079	Silent	SNP	T	TCGA-HT-7695-01A-11D-2253-08	50061659	65427079	89843481	32	48031											
CXCR3	2833	broad.mit.edu	37	chrX	70837109	70837109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacggctgccaccgcgccGttgcccagcagccccagcag	7	3	12	19	4	0	0	0	0	0	0	0	0	0	0	6	1	6	5	6	1	0	1			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:70837109G>A	ENST00000373691.4	-	2	517	c.354C>T	c.(352-354)aaC>aaT	p.N118N	CXCR3_ENST00000373693.3_Silent_p.N71N	NM_001142797.1	NP_001136269.1	P49682	CXCR3_HUMAN	chemokine (C-X-C motif) receptor 3	71					cell adhesion|cellular component movement|chemotaxis|elevation of cytosolic calcium ion concentration	cytoplasm|integral to plasma membrane	C-X-C chemokine receptor activity			breast(1)|central_nervous_system(2)|large_intestine(2)|lung(3)|ovary(2)	10	Renal(35;0.156)					CCACCGCGCCGTTGCCCAGCA	0.667													A	70837109	G	A	70837109	2	1	556	1	0	0	0	0	0	0	0	1	4125	1136	40	1		1	CXCR3	23	70837109	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	5410030	70837109	84433451	33	48032											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959418	117959418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgacccaagtcaatggcGtcctgccagattggaatatg	10	9	12	10	1	1	2	1	1	0	1	2	3	2	3	3	3	1	1	3	3	4	2			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:117959418G>A	ENST00000310164.2	+	4	718	c.211G>A	c.(211-213)Gtc>Atc	p.V71I		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	71					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding	p.V71I(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						agtcaatggcgtcctgccaga	0.557													A	117959418	G	A	117959418	3	1	556	1	0	0	0	0	1	0	0	0	17682	1145	40	1	213	1	ZCCHC12	23	117959418	Missense_Mutation	SNP	G	TCGA-HT-7695-01A-11D-2253-08	47122309	117959418	37311142	34	48033											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HT-7695-01A-11D-2253-08	TCGA-HT-7695-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	86386b36-2950-4479-b79f-4b347053c8bc	04911942-c9a9-473f-93d5-79c0c14944ac	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	556	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-7695-01A-11D-2253-08	32196942	150156360	5114200	35	48034											
WDR78	79819	broad.mit.edu	37	chr1	67371036	67371037	+	Frame_Shift_Ins	INS	-	-	A																															gcaaaaaagctaatagacttINSctttggttgtgtggcattgt																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:67371036_67371037insA	ENST00000371026.3	-	2	247_248	c.192_193insT	c.(190-195)aagaagfs	p.K65fs	WDR78_ENST00000371023.3_Frame_Shift_Ins_p.K65fs|WDR78_ENST00000488333.1_5'UTR|WDR78_ENST00000431318.1_5'UTR|WDR78_ENST00000371022.3_Frame_Shift_Ins_p.K65fs	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	65										NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						CTAATAGACTTCTTTGGTTGTG	0.322													A	67371037	-	A	67371036	7	5	557	1	0	1	1	0	0	0	0	0	17430	1792	62	0	2474	0	WDR78	1	67371036	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		67371036	181879585	1	48035											
AMPD2	271	broad.mit.edu	37	chr1	110168798	110168798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggctggagccagacatcCtgcttcgggccaagcaagat	10	7	12	12	1	0	2	0	0	0	2	2	3	1	3	3	3	3	3	3	3	3	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:110168798C>G	ENST00000256578.3	+	4	892	c.532C>G	c.(532-534)Ctg>Gtg	p.L178V	AMPD2_ENST00000393688.3_Missense_Mutation_p.L59V|AMPD2_ENST00000528454.1_Missense_Mutation_p.L60V|AMPD2_ENST00000358729.4_Missense_Mutation_p.L103V|AMPD2_ENST00000526301.1_3'UTR|AMPD2_ENST00000342115.4_Missense_Mutation_p.L97V|AMPD2_ENST00000528667.1_Missense_Mutation_p.L178V	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	178					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		GCCAGACATCCTGCTTCGGGC	0.632													G	110168798	C	G	110168798	3	3	557	1	0	0	0	0	1	0	0	0	586	680	24	4	587	4	AMPD2	1	110168798	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	42797762	110168798	139081823	2	48036											
LCE2B	26239	broad.mit.edu	37	chr1	152659476	152659476	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgctgtggtcccatctctGggggctgctgtggtcccagc	2	12	14	13	0	1	0	0	0	1	0	4	0	3	0	2	4	3	3	2	4	0	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:152659476G>T	ENST00000368780.3	+	2	211	c.157G>T	c.(157-159)Ggg>Tgg	p.G53W	LCE2B_ENST00000417924.2_Missense_Mutation_p.G53W	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	53	Cys-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCCATCTCTGGGGGCTGCTG	0.642													T	152659476	G	T	152659476	3	4	557	1	0	0	0	0	1	0	0	0	8725	1348	47	4	159	4	LCE2B	1	152659476	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	42490678	152659476	96591145	3	48037											
FCRL3	115352	broad.mit.edu	37	chr1	157665876	157665876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggatggggctgtgaacGttatcagctgcacagtagta	10	10	14	7	1	1	2	1	2	0	0	1	3	1	3	0	3	3	6	0	3	4	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:157665876G>A	ENST00000368184.3	-	7	1377	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N	FCRL3_ENST00000368186.5_Silent_p.N362N|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	362	Ig-like C2-type 4.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GGCTGTGAACGTTATCAGCTG	0.532													A	157665876	G	A	157665876	2	1	557	1	0	0	0	0	0	0	0	1	5845	1136	40	1		1	FCRL3	1	157665876	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	5006400	157665876	91584745	4	48038											
PRG4	10216	broad.mit.edu	37	chr1	186276406	186276406	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagccttcacccaccactCccaaggagcctgcacccacc	10	4	7	20	0	1	0	1	0	0	0	2	2	2	2	7	2	3	1	7	2	1	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr1:186276406C>A	ENST00000445192.2	+	7	1600	c.1555C>A	c.(1555-1557)Ccc>Acc	p.P519T	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.P478T|PRG4_ENST00000367485.4_Missense_Mutation_p.P426T|PRG4_ENST00000367486.3_Missense_Mutation_p.P476T	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	519	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			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						ACCCACCACTCCCAAGGAGCC	0.642													A	186276406	C	A	186276406	3	1	557	1	0	0	0	0	1	0	0	0	12567	855	30	4	1577	4	PRG4	1	186276406	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	28610530	186276406	62974215	5	48039											
ASPRV1	151516	broad.mit.edu	37	chr2	70188202	70188202	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtccaccaggaacctcaCgggcactttgccaatcttcc	10	8	8	15	1	2	1	1	0	1	1	4	2	4	2	5	2	2	1	5	2	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr2:70188202C>T	ENST00000320256.4	-	1	1195	c.619G>A	c.(619-621)Gtg>Atg	p.V207M		NM_152792.2	NP_690005.2	Q53RT3	APRV1_HUMAN	aspartic peptidase, retroviral-like 1	207	Peptidase A2.				protein maturation by peptide bond cleavage|skin development		aspartic-type endopeptidase activity			endometrium(3)|large_intestine(4)|lung(6)|ovary(1)	14						AGGAACCTCACGGGCACTTTG	0.597													T	70188202	C	T	70188202	3	4	557	1	0	0	0	0	1	0	0	0	1063	536	19	1	416	1	ASPRV1	2	70188202	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		70188202	173011171	6	48040											
PHLDB2	90102	broad.mit.edu	37	chr3	111604041	111604042	+	Frame_Shift_Ins	INS	-	-	CAGA																															ttcacttcttgctggagagtINScagacagagtttttgcgacc																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr3:111604041_111604042insCAGA	ENST00000431670.2	+	2	1528_1529	c.1117_1118insCAGA	c.(1117-1119)tcafs	p.-374fs	PHLDB2_ENST00000393923.3_Frame_Shift_Ins_p.-401fs|PHLDB2_ENST00000478922.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000481953.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000477695.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000412622.1_Frame_Shift_Ins_p.-374fs|PHLDB2_ENST00000393925.3_Frame_Shift_Ins_p.-374fs	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2							cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						TGCTGGAGAGTCAGACAGAGTT	0.515													CAGA	111604042	-	CAGA	111604041	7	5	557	1	0	1	1	0	0	0	0	0	11929	1667	58	0	1204	0	PHLDB2	3	111604041	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08		111604041	86418389	7	48041											
GRID2	2895	broad.mit.edu	37	chr4	94436513	94436513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcggatgatcaaccgaaGcaatggatcggagaacaatg	14	6	14	7	3	1	2	1	1	0	1	2	6	1	4	1	4	3	1	1	4	5	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr4:94436513G>A	ENST00000282020.4	+	13	2402	c.2144G>A	c.(2143-2145)aGc>aAc	p.S715N	GRID2_ENST00000510992.1_Missense_Mutation_p.S620N	NM_001510.2	NP_001501.2	O43424	GRID2_HUMAN	glutamate receptor, ionotropic, delta 2	715					glutamate signaling pathway	cell junction|integral to plasma membrane|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|ionotropic glutamate receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(18)|lung(45)|ovary(3)|prostate(6)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(1)	100		Hepatocellular(203;0.114)|all_hematologic(202;0.177)		OV - Ovarian serous cystadenocarcinoma(123;3.22e-06)|LUSC - Lung squamous cell carcinoma(81;0.185)|Lung(65;0.191)	L-Glutamic Acid(DB00142)	ATCAACCGAAGCAATGGATCG	0.473													A	94436513	G	A	94436513	3	1	557	1	0	0	0	0	1	0	0	0	6827	971	34	2	2194	2	GRID2	4	94436513	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		94436513	96717763	8	48042											
PDE4D	5144	broad.mit.edu	37	chr5	58489358	58489358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcacaatcaagtcatctcCgtgtctgaaaaataaaccaa	17	9	5	10	1	5	1	3	1	2	0	6	1	5	1	2	0	1	0	2	0	7	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:58489358C>T	ENST00000340635.6	-	3	827	c.652G>A	c.(652-654)Gga>Aga	p.G218R	PDE4D_ENST00000507116.1_Missense_Mutation_p.G154R|PDE4D_ENST00000405755.2_Missense_Mutation_p.G96R|PDE4D_ENST00000503258.1_Missense_Mutation_p.G88R|PDE4D_ENST00000502484.2_Missense_Mutation_p.G157R|PDE4D_ENST00000360047.5_Missense_Mutation_p.G82R|PDE4D_ENST00000546160.1_Missense_Mutation_p.G157R|PDE4D_ENST00000502575.1_Missense_Mutation_p.G154R|PDE4D_ENST00000503947.1_5'UTR	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	218					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AAGTCATCTCCGTGTCTGAAA	0.398													T	58489358	C	T	58489358	3	4	557	1	0	0	0	0	1	0	0	0	11718	661	23	1	1829	1	PDE4D	5	58489358	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		58489358	122425902	9	48043											
GPR98	84059	broad.mit.edu	37	chr5	90119413	90119413	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaactcaaaccagaaaaGgtaagaaatgaagagacaca	22	5	8	6	0	1	5	1	2	0	3	1	6	1	5	1	1	2	1	1	1	7	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:90119413G>A	ENST00000405460.2	+	76	16464	c.16368G>A	c.(16366-16368)aaG>aaA	p.K5456K	GPR98_ENST00000425867.2_Splice_Site_p.K1117K	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5456	Calx-beta 35.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		AACCAGAAAAGGTAAGAAATG	0.363													A	90119413	G	A	90119413	5	1	557	1	0	0	0	0	0	0	1	0	6776	1014	35	2	16670	2	GPR98	5	90119413	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	31630055	90119413	90795847	10	48044											
PCDHB1	29930	broad.mit.edu	37	chr5	140432731	140432731	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagatgacaatgacaatcGtccaatgatcttatacccac	14	10	5	12	1	1	4	0	3	1	1	3	4	2	4	3	0	1	0	3	0	6	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:140432731G>A	ENST00000306549.3	+	1	1753	c.1676G>A	c.(1675-1677)cGt>cAt	p.R559H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		559	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R559H(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AATGACAATCGTCCAATGATC	0.502													A	140432731	G	A	140432731	3	1	557	1	0	0	0	0	1	0	0	0	11610	1145	40	1	1678	1	PCDHB1	5	140432731	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	50313318	140432731	40482529	11	48045											
ATP10B	23120	broad.mit.edu	37	chr5	160061402	160061402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctgcccatgatggtgcaaCgtcggaacaccatcttgttc	8	10	10	13	3	1	1	0	1	1	0	3	2	1	2	2	2	4	3	2	2	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:160061402C>T	ENST00000327245.5	-	12	2186	c.1340G>A	c.(1339-1341)cGt>cAt	p.R447H	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	447					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GATGGTGCAACGTCGGAACAC	0.507													T	160061402	C	T	160061402	3	4	557	1	0	0	0	0	1	0	0	0	1122	536	19	1	3105	1	ATP10B	5	160061402	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	19628671	160061402	20853858	12	48046											
FGFR4	2264	broad.mit.edu	37	chr5	176519745	176519745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcctcgcaggcaattccatCggcctctcctaccagtctgc	6	10	8	17	2	2	0	0	0	2	0	6	0	3	0	5	2	3	2	5	2	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr5:176519745C>T	ENST00000292408.4	+	8	1262	c.1017C>T	c.(1015-1017)atC>atT	p.I339I	FGFR4_ENST00000292410.3_Silent_p.I339I|FGFR4_ENST00000393637.1_Silent_p.I339I|FGFR4_ENST00000502906.1_Silent_p.I339I|FGFR4_ENST00000393648.2_Silent_p.I339I	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	339	Ig-like C2-type 3.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	GCAATTCCATCGGCCTCTCCT	0.632										TSP Lung(9;0.080)			T	176519745	C	T	176519745	2	4	557	1	0	0	0	0	0	0	0	1	5917	874	31	1		1	FGFR4	5	176519745	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	16458343	176519745	4395515	13	48047											
TRIM15	89870	broad.mit.edu	37	chr6	30131720	30131720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaacttactgcgaggagcacGgcgagaagatctacttcttc	12	9	10	10	3	2	2	0	0	2	2	3	5	2	3	0	2	5	1	0	2	4	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:30131720G>A	ENST00000376694.4	+	1	728	c.259G>A	c.(259-261)Ggc>Agc	p.G87S	TRIM15_ENST00000376688.1_Missense_Mutation_p.G87S	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	87					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CGAGGAGCACGGCGAGAAGAT	0.632													A	30131720	G	A	30131720	3	1	557	1	0	0	0	0	1	0	0	0	16591	1116	39	1	261	1	TRIM15	6	30131720	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30131720	140983347	14	48048											
DAXX	1616	broad.mit.edu	37	chr6	33287900	33287900	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctcttcttcttcCtcctcctcctcctcttcctc	0	17	1	23	0	4	0	0	0	4	0	13	0	12	0	9	0	0	0	9	0	0	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr6:33287900C>T	ENST00000374542.5	-	5	1557	c.1353G>A	c.(1351-1353)gaG>gaA	p.E451E	DAXX_ENST00000477162.1_5'UTR|DAXX_ENST00000414083.2_Silent_p.E376E|DAXX_ENST00000266000.6_Silent_p.E451E	NM_001141969.1|NM_001141970.1|NM_001350.4	NP_001135441.1|NP_001135442.1|NP_001341.1	Q9UER7	DAXX_HUMAN	death-domain associated protein	451	Asp/Glu-rich (acidic).|Necessary for interaction with USP7.				activation of JUN kinase activity|androgen receptor signaling pathway|apoptosis|induction of apoptosis via death domain receptors|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|regulation of protein ubiquitination|transcription, DNA-dependent	chromosome, centromeric region|cytosol|nucleolus|PML body	androgen receptor binding|heat shock protein binding|p53 binding|protein homodimerization activity|protein N-terminus binding|receptor signaling protein activity|transcription factor binding|ubiquitin protein ligase binding	p.E451E(2)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(2)|lung(7)|ovary(3)|pancreas(18)|prostate(3)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	55						cttcttcttcctcctcctcct	0.557			"Mis, F, N"		Pancreatic neuroendocrine tumors. Paediatric GBM								T	33287900	C	T	33287900	2	4	557	1	0	0	0	0	0	0	0	1	4277	680	24	2		2	DAXX	6	33287900	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	3156180	33287900	137827167	15	48049											
ABCA13	154664	broad.mit.edu	37	chr7	48506641	48506641	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatttaaacccacgcCagtaagtgtcaggtgctctc	10	10	10	11	1	2	1	1	0	1	1	3	1	2	1	2	1	3	3	2	1	3	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:48506641C>T	ENST00000435803.1	+	44	12928	c.12904C>T	c.(12904-12906)Cag>Tag	p.Q4302*	ABCA13_ENST00000544596.1_Intron	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4302			Q -> R (in dbSNP:rs4917153).		transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						AAACCCACGCCAGTAAGTGTC	0.473													T	48506641	C	T	48506641	5	4	557	1	0	0	0	0	0	0	1	0	31	608	21	2	12907	2	ABCA13	7	48506641	Splice_Site	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48506641	110632022	16	48050											
ABCB1	5243	broad.mit.edu	37	chr7	87183111	87183111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatagaatattcccctgagAggaccaaggtggtcccatac	13	8	9	11	0	0	2	0	1	0	2	2	4	2	3	4	3	1	0	4	3	6	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:87183111A>G	ENST00000265724.3	-	10	1382	c.965T>C	c.(964-966)cTc>cCc	p.L322P	ABCB1_ENST00000543898.1_Missense_Mutation_p.L258P	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	322	ABC transmembrane type-1 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)	TTCCCCTGAGAGGACCAAGGT	0.393													G	87183111	A	G	87183111	3	3	557	1	0	0	0	0	1	0	0	0	40	304	11	3	2957	3	ABCB1	7	87183111	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	38676470	87183111	71955552	17	48051											
MUC17	140453	broad.mit.edu	37	chr7	100676700	100676700	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttcaactgaagccacttCatcttctacaactgcggaag	12	10	6	13	1	4	1	2	1	2	0	4	2	4	2	1	1	5	0	1	1	5	4			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr7:100676700C>A	ENST00000306151.4	+	3	2067	c.2003C>A	c.(2002-2004)tCa>tAa	p.S668*		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	668	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)					GAAGCCACTTCATCTTCTACA	0.502													A	100676700	C	A	100676700	4	1	557	1	0	0	0	0	0	1	0	0	10050	838	29	4	2013	4	MUC17	7	100676700	Nonsense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	13493589	100676700	58461963	18	48052											
RNF208	727800	broad.mit.edu	37	chr9	140114928	140114928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcacgtggcaggtgcacGcggccccacagtactgccgg	6	5	14	16	5	0	0	0	0	0	0	1	0	1	0	4	4	3	4	4	4	1	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr9:140114928G>A	ENST00000392827.1	-	2	905	c.737C>T	c.(736-738)gCg>gTg	p.A246V	RNF208_ENST00000391553.1_Missense_Mutation_p.A246V			Q9H0X6	RN208_HUMAN	ring finger protein 208	246							zinc ion binding			lung(1)	1	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		GCAGGTGCACGCGGCCCCACA	0.706													A	140114928	G	A	140114928	3	1	557	1	0	0	0	0	1	0	0	0	13566	1087	38	1	52	1	RNF208	9	140114928	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		140114928	1098503	19	48053											
CPN1	1369	broad.mit.edu	37	chr10	101841262	101841262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgcgtgatgccggggcattCgttttgcaccttgtacagcg	5	11	13	12	5	0	1	0	1	0	0	1	1	0	1	3	2	4	4	3	2	1	5			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr10:101841262C>T	ENST00000370418.3	-	1	372	c.121G>A	c.(121-123)Gaa>Aaa	p.E41K		NM_001308.2	NP_001299.1	P15169	CBPN_HUMAN	carboxypeptidase N, polypeptide 1	41	Catalytic.				proteolysis	extracellular space	metallocarboxypeptidase activity|zinc ion binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	33		Colorectal(252;0.234)		Epithelial(162;4.77e-10)|all cancers(201;3.82e-08)		CCGGGGCATTCGTTTTGCACC	0.597													T	101841262	C	T	101841262	3	4	557	1	0	0	0	0	1	0	0	0	3840	893	31	1	1291	1	CPN1	10	101841262	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		101841262	33693485	20	48054											
NTF3	4908	broad.mit.edu	37	chr12	5603797	5603797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcacggcggaaacggtaCgcggagcataagagtcaccg	13	4	13	11	6	2	1	2	0	0	1	2	3	2	3	1	4	3	2	1	4	3	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:5603797C>T	ENST00000423158.3	+	2	668	c.456C>T	c.(454-456)taC>taT	p.Y152Y	NTF3_ENST00000331010.6_Silent_p.Y139Y|NTF3_ENST00000535299.1_Intron	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	139					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GGAAACGGTACGCGGAGCATA	0.602													T	5603797	C	T	5603797	2	4	557	1	0	0	0	0	0	0	0	1	10772	547	19	1		1	NTF3	12	5603797	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		5603797	128248098	21	48055											
ATN1	1822	broad.mit.edu	37	chr12	7050146	7050146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctaaccccctgcttcctcaCcctctgcacgagaacgaagt	9	8	6	18	2	2	1	1	0	1	1	3	3	3	1	5	0	4	2	5	0	3	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:7050146C>T	ENST00000356654.4	+	8	3555	c.3318C>T	c.(3316-3318)caC>caT	p.H1106H	ATN1_ENST00000396684.2_Silent_p.H1106H	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	1106					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						TGCTTCCTCACCCTCTGCACG	0.567													T	7050146	C	T	7050146	2	4	557	1	0	0	0	0	0	0	0	1	1116	506	18	2		2	ATN1	12	7050146	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	1446349	7050146	126801749	22	48056											
NACA	4666	broad.mit.edu	37	chr12	57111705	57111705	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctagacctccttttggggaGggaggagttgcagctggggt	6	10	18	7	0	0	1	0	0	0	1	1	4	1	4	2	6	2	4	2	6	1	4	rs2926746		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:57111705G>A	ENST00000454682.1	-	3	3890	c.3609C>T	c.(3607-3609)ccC>ccT	p.P1203P	NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000550952.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						CTTTTGGGGAGGGAGGAGTTG	0.642			T	BCL6	NHL								A	57111705	G	A	57111705	2	1	557	1	0	0	0	0	0	0	0	1	10209	987	35	2		2	NACA	12	57111705	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	50061559	57111705	76740190	23	48057											
TMTC2	160335	broad.mit.edu	37	chr12	83379779	83379779	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcactgagatccaagactgAccacatccctgctcatctca	12	9	5	15	0	3	3	3	2	1	2	6	4	5	3	3	0	1	1	3	0	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:83379779A>G	ENST00000549919.1	+	9	3811	c.2006A>G	c.(2005-2007)gAc>gGc	p.D669G	TMTC2_ENST00000321196.3_Missense_Mutation_p.D675G			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	675						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						TCCAAGACTGACCACATCCCT	0.458													G	83379779	A	G	83379779	3	3	557	1	0	0	0	0	1	0	0	0	16361	275	10	3	2054	3	TMTC2	12	83379779	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	26268074	83379779	50472116	24	48058											
PTPN11	5781	broad.mit.edu	37	chr12	112915523	112915523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttcagattacatcaatgcaAatatcatcatggtaagcttt	14	15	5	7	0	4	1	4	0	0	1	4	1	4	1	0	1	3	3	0	1	5	5	rs28933386		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:112915523A>G	ENST00000351677.2	+	8	1120	c.922A>G	c.(922-924)Aat>Gat	p.N308D	PTPN11_ENST00000392597.1_Missense_Mutation_p.N308D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	308	Tyrosine-protein phosphatase.		N -> D (in NS1; common mutation).|N -> S (in NS1; some patients also manifest giant cell lesions of bone and soft tissue).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.N308D(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						CATCAATGCAAATATCATCAT	0.378			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				G	112915523	A	G	112915523	3	3	557	1	0	0	0	0	1	0	0	0	12866	14	1	3	952	3	PTPN11	12	112915523	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08	29535744	112915523	20936372	25	48059											
NCOR2	9612	broad.mit.edu	37	chr12	124817682	124817683	+	Frame_Shift_Ins	INS	-	-	C																															cccacagaagtacctgggctINSccgtctgttccccatcccgg																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr12:124817682_124817683insC	ENST00000356219.3	-	43	6924_6925	c.6769_6770insG	c.(6769-6771)gagfs	p.E2257fs	NCOR2_ENST00000404621.1_Frame_Shift_Ins_p.E2240fs|NCOR2_ENST00000397355.1_Frame_Shift_Ins_p.E2241fs|NCOR2_ENST00000404121.2_Frame_Shift_Ins_p.E1811fs|NCOR2_ENST00000405201.1_Frame_Shift_Ins_p.E2250fs|NCOR2_ENST00000429285.2_Frame_Shift_Ins_p.E2240fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2261					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTACCTGGGCTCCGTCTGTTCC	0.644													C	124817683	-	C	124817682	7	5	557	1	0	1	1	0	0	0	0	0	10312	1551	54	0	819	0	NCOR2	12	124817682	Frame_Shift_Ins	INS	-	TCGA-HT-7854-01A-11D-2253-08	11902159	124817682	9034213	26	48060											
IL16	3603	broad.mit.edu	37	chr15	81571959	81571959	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgacggcgcctccttccCtgtgcagccacctgtctccc	3	9	9	20	2	1	1	0	1	1	0	4	1	3	1	7	1	2	1	7	1	0	1			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr15:81571959C>T	ENST00000394660.2	+	8	1285	c.925C>T	c.(925-927)Ctg>Ttg	p.L309L	IL16_ENST00000302987.4_Silent_p.L309L	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	309	Interaction with GRIN2A.				immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						GCCTCCTTCCCTGTGCAGCCA	0.612													T	81571959	C	T	81571959	2	4	557	1	0	0	0	0	0	0	0	1	7691	680	24	2		2	IL16	15	81571959	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08		81571959	20959433	27	48061											
MAPK3	5595	broad.mit.edu	37	chr16	30134372	30134372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccctcacctgaccatgccGtacgcgccctcgccgatgta	6	7	8	20	5	1	1	1	1	0	0	2	2	1	1	7	0	2	2	7	0	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:30134372G>A	ENST00000403394.1	-	1	258	c.159C>T	c.(157-159)taC>taT	p.Y53Y	MAPK3_ENST00000395199.3_Silent_p.Y53Y|MAPK3_ENST00000263025.4_Silent_p.Y53Y|MAPK3_ENST00000322266.5_Silent_p.Y53Y|MAPK3_ENST00000395202.1_Silent_p.Y53Y|MAPK3_ENST00000395200.1_Silent_p.Y24Y	NM_001040056.1	NP_001035145.1	P27361	MK03_HUMAN	mitogen-activated protein kinase 3	53	Protein kinase.				activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle|cellular response to mechanical stimulus|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|interleukin-1-mediated signaling pathway|interspecies interaction between organisms|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of transcription from RNA polymerase II promoter|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|transcription initiation from RNA polymerase I promoter	cytosol|nucleoplasm	ATP binding|MAP kinase activity|phosphatase binding									Arsenic trioxide(DB01169)|Isoproterenol(DB01064)|Simvastatin(DB00641)|Sulindac(DB00605)	TGACCATGCCGTACGCGCCCT	0.726													A	30134372	G	A	30134372	2	1	557	1	0	0	0	0	0	0	0	1	9354	1140	40	1		1	MAPK3	16	30134372	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08		30134372	60220381	28	48062											
PLCG2	5336	broad.mit.edu	37	chr16	81944259	81944259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccgcgagacgcacctgcGctgcgccgagttcgagctgc	6	6	13	16	7	0	1	0	0	0	1	1	4	0	1	3	0	5	4	3	0	1	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr16:81944259G>A	ENST00000359376.3	+	18	2082	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	623	SH2 1.			R -> P (in Ref. 1; AAA60112/CAA32194 and 3; AAQ76815).	intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						ACGCACCTGCGCTGCGCCGAG	0.632													A	81944259	G	A	81944259	3	1	557	1	0	0	0	0	1	0	0	0	12113	1087	38	1	1934	1	PLCG2	16	81944259	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08	51809887	81944259	8410494	29	48063											
KRT20	54474	broad.mit.edu	37	chr17	39041184	39041184	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccagggtccgcaccttttctAggtagctcgctagacggtca	7	10	11	13	3	2	1	1	0	1	1	4	1	3	1	3	3	1	4	3	3	3	5			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:39041184A>T	ENST00000167588.3	-	1	295	c.254T>A	c.(253-255)cTa>cAa	p.L85Q		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	85	Coil 1A.|Rod.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				CACCTTTTCTAGGTAGCTCGC	0.542													T	39041184	A	T	39041184	3	4	557	1	0	0	0	0	1	0	0	0	8516	420	15	5	1052	5	KRT20	17	39041184	Missense_Mutation	SNP	A	TCGA-HT-7854-01A-11D-2253-08		39041184	42154026	30	48064											
KCNH6	81033	broad.mit.edu	37	chr17	61621618	61621618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctcctgcagatgcagccCctcccctgagcatctcagat	7	9	7	18	0	1	3	1	1	1	2	5	3	4	3	6	0	4	3	6	0	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:61621618C>T	ENST00000583023.1	+	12	2361	c.2350C>T	c.(2350-2352)Cct>Tct	p.P784S	KCNH6_ENST00000581784.1_Missense_Mutation_p.P695S|KCNH6_ENST00000456941.2_Missense_Mutation_p.P695S|KCNH6_ENST00000314672.5_Missense_Mutation_p.P748S	NM_030779.2	NP_110406.1	Q9H252	KCNH6_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 6	784					regulation of transcription, DNA-dependent|signal transduction					breast(2)|central_nervous_system(2)|endometrium(9)|kidney(4)|large_intestine(6)|lung(20)|ovary(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	54					Ibutilide(DB00308)	AGATGCAGCCCCTCCCCTGAG	0.612													T	61621618	C	T	61621618	3	4	557	1	0	0	0	0	1	0	0	0	8094	623	22	2	2396	2	KCNH6	17	61621618	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08	22580434	61621618	19573592	31	48065											
CD300A	11314	broad.mit.edu	37	chr17	72473594	72473594	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccgctgctcctctccCtgctggcattgttgctgctt	1	14	10	16	1	1	0	0	0	1	0	4	0	3	0	3	2	4	8	3	2	0	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr17:72473594C>T	ENST00000360141.3	+	4	841	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	CD300A_ENST00000577511.1_Silent_p.L55L|CD300A_ENST00000361933.3_Intron|CD300A_ENST00000310828.5_Silent_p.L72L|CD300A_ENST00000392625.3_Silent_p.L72L	NM_001256841.1|NM_007261.3	NP_001243770.1|NP_009192.2	Q9UGN4	CLM8_HUMAN	CD300a molecule	185					cell adhesion	integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(4)|urinary_tract(1)	16						GCTCCTCTCCCTGCTGGCATT	0.512													T	72473594	C	T	72473594	2	4	557	1	0	0	0	0	0	0	0	1	3026	680	24	2		2	CD300A	17	72473594	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	10851976	72473594	8721616	32	48066											
MAPK4	5596	broad.mit.edu	37	chr18	48190668	48190668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggagaccgacctggcaCgcctgctggagcagggcacg	9	4	15	13	3	0	1	0	0	0	1	0	4	0	2	3	4	2	4	3	4	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr18:48190668C>T	ENST00000400384.2	+	2	1376	c.340C>T	c.(340-342)Cgc>Tgc	p.R114C	MAPK4_ENST00000592595.1_Missense_Mutation_p.R114C|MAPK4_ENST00000540640.1_Intron|MAPK4_ENST00000588540.1_Missense_Mutation_p.R114C	NM_002747.3	NP_002738.2	P31152	MK04_HUMAN	mitogen-activated protein kinase 4	114	Protein kinase.				cell cycle		ATP binding|MAP kinase activity	p.R114C(1)		lung(4)|skin(3)|upper_aerodigestive_tract(1)	8		Colorectal(6;0.0297)		Colorectal(21;0.156)		CGACCTGGCACGCCTGCTGGA	0.612													T	48190668	C	T	48190668	3	4	557	1	0	0	0	0	1	0	0	0	9355	536	19	1	342	1	MAPK4	18	48190668	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		48190668	29886580	33	48067											
ABCA7	10347	broad.mit.edu	37	chr19	1056395	1056395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgagccagcaacgcaatcCtccgtgctcacctgccccca	9	5	7	20	3	1	0	1	0	0	0	3	1	3	0	7	0	5	3	7	0	2	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:1056395C>T	ENST00000263094.6	+	33	4714	c.4483C>T	c.(4483-4485)Ctc>Ttc	p.L1495F	ABCA7_ENST00000433129.1_Missense_Mutation_p.L1495F|ABCA7_ENST00000435683.2_Missense_Mutation_p.L1357F	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1495					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CAACGCAATCCTCCGTGCTCA	0.612													T	1056395	C	T	1056395	3	4	557	1	0	0	0	0	1	0	0	0	37	681	24	2	4609	2	ABCA7	19	1056395	Missense_Mutation	SNP	C	TCGA-HT-7854-01A-11D-2253-08		1056395	58072588	34	48068											
FCHO1	23149	broad.mit.edu	37	chr19	17895689	17895689	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccagatcctgctgcctgtGggggagcctgtgaccaacgt	6	9	14	12	1	0	2	0	1	0	1	2	3	2	3	5	2	4	1	5	2	1	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:17895689G>A	ENST00000594202.1	+	26	2661	c.2382G>A	c.(2380-2382)gtG>gtA	p.V794V	FCHO1_ENST00000539407.1_Silent_p.V794V|FCHO1_ENST00000595033.1_Silent_p.V744V|FCHO1_ENST00000597512.1_Silent_p.V801V|FCHO1_ENST00000600676.1_Silent_p.V794V|FCHO1_ENST00000389133.4_Silent_p.V794V|FCHO1_ENST00000252771.7_Silent_p.V794V|FCHO1_ENST00000596536.1_Silent_p.V794V|FCHO1_ENST00000596951.1_Silent_p.V794V	NM_001161357.1	NP_001154829.1	O14526	FCHO1_HUMAN	FCH domain only 1	794										NS(2)|breast(1)|large_intestine(6)|liver(1)|lung(12)	22						TGCTGCCTGTGGGGGAGCCTG	0.652											OREG0025350	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	17895689	G	A	17895689	2	1	557	1	0	0	0	0	0	0	0	1	5836	1335	47	2		2	FCHO1	19	17895689	Silent	SNP	G	TCGA-HT-7854-01A-11D-2253-08	16839294	17895689	41233294	35	48069											
MYH14	79784	broad.mit.edu	37	chr19	50812434	50812434	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacactgaggaaccggcttcGgtatggtcatcccacgtaca	10	8	10	13	3	1	1	1	1	0	0	3	2	2	2	2	4	2	3	2	4	3	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr19:50812434G>T	ENST00000440075.2	+	42	6007	c.5960G>T	c.(5959-5961)cGa>cTa	p.R1987L	MYH14_ENST00000598205.1_Splice_Site_p.R1954L|MYH14_ENST00000376970.2_Splice_Site_p.R1979L|MYH14_ENST00000601313.1_Splice_Site_p.R1987L|MYH14_ENST00000596571.1_Splice_Site_p.R1946L|MYH14_ENST00000262269.8_Splice_Site_p.R1987L|MYH14_ENST00000425460.1_Splice_Site_p.R1954L			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1946					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		AACCGGCTTCGGTATGGTCAT	0.632													T	50812434	G	T	50812434	5	4	557	1	0	0	0	0	0	0	1	0	10109	1130	39	4	6122	4	MYH14	19	50812434	Splice_Site	SNP	G	TCGA-HT-7854-01A-11D-2253-08	32916745	50812434	8316549	36	48070											
C20orf26	26074	broad.mit.edu	37	chr20	20271009	20271009	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctgccattccaactcccttgGaggtacaaatggcacagcct	10	9	8	14	0	0	0	0	0	0	0	2	1	2	1	4	3	4	2	4	3	3	3			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:20271009G>A	ENST00000377309.2	+	23	2976	c.930G>A	c.(928-930)tgG>tgA	p.W310*	C20orf26_ENST00000245957.5_Missense_Mutation_p.E1064K			Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	0										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		AACTCCCTTGGAGGTACAAAT	0.348													A	20271009	G	A	20271009	4	1	557	1	0	0	0	0	0	1	0	0	2127	1175	41	2	3312	2	C20orf26	20	20271009	Nonsense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		20271009	42754511	37	48071											
ACOT8	10005	broad.mit.edu	37	chr20	44472287	44472287	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgccactggtgaggcagCagtgcagtgcccaagaaggc	9	6	15	11	0	0	2	0	1	0	1	0	2	0	2	2	3	5	4	2	3	2	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr20:44472287C>G	ENST00000217455.4	-	5	810	c.720G>C	c.(718-720)ctG>ctC	p.L240L		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	240					bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				GGTGAGGCAGCAGTGCAGTGC	0.597													G	44472287	C	G	44472287	2	3	557	1	0	0	0	0	0	0	0	1	156	697	25	4		4	ACOT8	20	44472287	Silent	SNP	C	TCGA-HT-7854-01A-11D-2253-08	24201278	44472287	18553233	38	48072											
ITSN1	6453	broad.mit.edu	37	chr21	35094910	35094910	+	Frame_Shift_Del	DEL	T	T	-																															caggtgatcaagctagaaacTttttttttcaatctgggtta																										TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:35094910delT	ENST00000381318.3	+	4	427	c.139delT	c.(139-141)tttfs	p.F49fs	ITSN1_ENST00000399326.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399349.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000381291.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399338.4_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399353.1_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000379960.5_Frame_Shift_Del_p.F49fs|ITSN1_ENST00000399352.1_Frame_Shift_Del_p.F49fs|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Frame_Shift_Del_p.F49fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	49	EH 1.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCTAGAAACTTTTTTTTTCA	0.279													-	35094910	T	-	35094910	7	5	557	1	0	1	0	1	0	0	0	0	7984	1609	56	0	149	0	ITSN1	21	35094910	Frame_Shift_Del	DEL	T	TCGA-HT-7854-01A-11D-2253-08		35094910	13034985	39	48073											
KRTAP10-6	386674	broad.mit.edu	37	chr21	46011553	46011553	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagagcagacgggcacAcagcaggcgtgctggcaggg	9	2	17	13	2	0	2	0	0	0	2	0	2	0	2	2	4	3	5	2	4	0	0			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr21:46011553A>G	ENST00000400368.1	-	1	833	c.813T>C	c.(811-813)tgT>tgC	p.C271C	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	271	29 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						AGACGGGCACACAGCAGGCGT	0.647													G	46011553	A	G	46011553	2	3	557	1	0	0	0	0	0	0	0	1	8571	157	6	3		3	KRTAP10-6	21	46011553	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08	10916643	46011553	2118342	40	48074											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Silent_p.S1192S	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													G	50659212	A	G	50659212	2	3	557	1	0	0	0	0	0	0	0	1	16872	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-HT-7854-01A-11D-2253-08		50659212	645354	41	48075											
TAF1	6872	broad.mit.edu	37	chrX	70621406	70621406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggggcatgtggtgccattgGacacatgaggactaacaaat	12	9	13	7	0	0	1	0	1	0	0	0	3	0	3	1	5	2	1	1	5	2	2			TCGA-HT-7854-01A-11D-2253-08	TCGA-HT-7854-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	041fdd6c-8bbc-4966-8ca7-8a9099b9031f	c943a4d4-9cd4-4c62-8b27-ad7bf4f1b829	g.chrX:70621406G>T	ENST00000449580.1	+	25	3863	c.3812G>T	c.(3811-3813)gGa>gTa	p.G1271V	TAF1_ENST00000276072.3_Missense_Mutation_p.G1292V|TAF1_ENST00000373790.4_Missense_Mutation_p.G1271V|TAF1_ENST00000423759.1_Missense_Mutation_p.G1292V			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1271					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGTGCCATTGGACACATGAGG	0.458													T	70621406	G	T	70621406	3	4	557	1	0	0	0	0	1	0	0	0	15610	1174	41	4	3973	4	TAF1	23	70621406	Missense_Mutation	SNP	G	TCGA-HT-7854-01A-11D-2253-08		70621406	84649154	42	48076											
TCEB3	6924	broad.mit.edu	37	chr1	24077560	24077561	+	Frame_Shift_Del	DEL	AA	AA	-																															catgagaggagagatgagagAaagaggtgtcacagaatgtc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:24077560_24077561delAA	ENST00000418390.2	+	4	814_815	c.543_544delAA	c.(541-546)agaaagfs	p.K182fs	TCEB3_ENST00000609199.1_Frame_Shift_Del_p.K156fs	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	182					positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GAGATGAGAGAAAGAGGTGTCA	0.48													-	24077561	AA	-	24077560	7	5	558	1	0	1	0	1	0	0	0	0	15781	243	9	0	557	0	TCEB3	1	24077560	Frame_Shift_Del	DEL	AA	TCGA-HT-7855-01A-11D-2395-08		24077560	225173061	1	48077											
GBP2	2634	broad.mit.edu	37	chr1	89578261	89578263	+	In_Frame_Del	DEL	TCT	TCT	-																															aaaatgttccctgcttgacaTcttcttctaaagggccaaat																								rs142287187		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89578261_89578263delTCT	ENST00000370466.3	-	8	1522_1524	c.1254_1256delAGA	c.(1252-1257)gaagat>gat	p.E418del	GBP2_ENST00000463660.1_5'UTR	NM_004120.3	NP_004111.2	P32456	GBP2_HUMAN	guanylate binding protein 2, interferon-inducible	418					interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	plasma membrane	GTP binding|GTPase activity	p.E418delE(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(1)	20		Lung NSC(277;0.0908)		all cancers(265;0.0151)|Epithelial(280;0.0284)		CTGCTTGACATCTTCTTCTAAAG	0.438													-	89578263	TCT	-	89578261	7	5	558	1	0	1	0	1	0	0	0	0	6328	1435	50	0	535	0	GBP2	1	89578261	In_Frame_Del	DEL	TCT	TCGA-HT-7855-01A-11D-2395-08	65500701	89578261	159672360	2	48078											
GBP7	388646	broad.mit.edu	37	chr1	89615082	89615083	+	Frame_Shift_Del	DEL	GT	GT	-																															cacgtccagcagctcctggaGtgtgtctgtggggaatctca																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:89615082_89615083delGT	ENST00000294671.2	-	7	1182_1183	c.1044_1045delAC	c.(1042-1047)acactcfs	p.L349fs		NM_207398.2	NP_997281.2	Q8N8V2	GBP7_HUMAN	guanylate binding protein 7	349						integral to membrane	GTP binding|GTPase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Lung NSC(277;0.0908)		all cancers(265;0.00835)|Epithelial(280;0.0322)		AGCTCCTGGAGTGTGTCTGTGG	0.535													-	89615083	GT	-	89615082	7	5	558	1	0	1	0	1	0	0	0	0	6333	1029	36	0	891	0	GBP7	1	89615082	Frame_Shift_Del	DEL	GT	TCGA-HT-7855-01A-11D-2395-08	36821	89615082	159635539	3	48079											
FLG	2312	broad.mit.edu	37	chr1	152284999	152284999	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggaaagaccctgaacgtCgagacctttcccctgaccgg	11	6	11	13	3	0	5	0	2	0	3	2	7	1	6	5	2	1	0	5	2	2	1	rs142483068	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:152284999C>T	ENST00000368799.1	-	3	2398	c.2363G>A	c.(2362-2364)cGa>cAa	p.R788Q	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	788	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGAACGTCGAGACCTTTC	0.567									Ichthyosis				T	152284999	C	T	152284999	3	4	558	1	0	0	0	0	1	0	0	0	5971	884	31	1	9826	1	FLG	1	152284999	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	62669917	152284999	96965622	4	48080											
ARHGEF2	9181	broad.mit.edu	37	chr1	155931587	155931587	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtccatgcggttgtagaTctcctgcagacgggcccctt	6	10	13	12	2	1	2	0	0	1	2	3	2	2	2	4	3	2	3	4	3	1	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:155931587T>C	ENST00000462460.2	-	15	1722	c.1468A>G	c.(1468-1470)Atc>Gtc	p.I490V	ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.I444V|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.I417V|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.I417V|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.I446V|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.I445V			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2		PH.				actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					CGGTTGTAGATCTCCTGCAGA	0.607													C	155931587	T	C	155931587	3	2	558	1	0	0	0	0	1	0	0	0	906	1435	50	3	1675	3	ARHGEF2	1	155931587	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	3646588	155931587	93319034	5	48081											
IFI16	3428	broad.mit.edu	37	chr1	158988254	158988254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagaaaatcatcatcatatCagattatttggaatatgata	19	13	5	4	0	4	3	4	1	0	2	4	4	4	4	0	1	0	0	0	1	8	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:158988254C>T	ENST00000295809.7	+	5	1040	c.785C>T	c.(784-786)tCa>tTa	p.S262L	IFI16_ENST00000368131.4_Missense_Mutation_p.S262L|IFI16_ENST00000359709.3_Missense_Mutation_p.S206L|IFI16_ENST00000430894.2_Missense_Mutation_p.S210L|IFI16_ENST00000448393.2_Missense_Mutation_p.S262L|IFI16_ENST00000368132.3_Missense_Mutation_p.S262L|IFI16_ENST00000340979.6_Missense_Mutation_p.S262L			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	262	HIN-200 1.				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					ATCATCATATCAGATTATTTG	0.368													T	158988254	C	T	158988254	3	4	558	1	0	0	0	0	1	0	0	0	7569	838	29	2	799	2	IFI16	1	158988254	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	3056667	158988254	90262367	6	48082											
IPO9	55705	broad.mit.edu	37	chr1	201817721	201817721	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccatgcgtgtgctgacAggtaccagaagcccttttcc	8	9	12	12	1	0	2	0	1	0	1	1	3	1	3	4	2	5	2	4	2	2	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr1:201817721A>G	ENST00000361565.4	+	4	582	c.513A>G	c.(511-513)acA>acG	p.T171T	IPO9_ENST00000464348.1_3'UTR	NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	171					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GTGTGCTGACAGGTACCAGAA	0.512													G	201817721	A	G	201817721	5	3	558	1	0	0	0	0	0	0	1	0	7857	202	7	3	527	3	IPO9	1	201817721	Splice_Site	SNP	A	TCGA-HT-7855-01A-11D-2395-08	42829467	201817721	47432900	7	48083											
IL18R1	8809	broad.mit.edu	37	chr2	102984511	102984511	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagttgaatgacacaggatcTtactttttccaaatgaagtg	13	13	9	6	0	1	3	0	3	1	0	2	5	2	4	1	1	1	1	1	1	4	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:102984511T>A	ENST00000409599.1	+	4	641	c.285T>A	c.(283-285)tcT>tcA	p.S95S	IL18R1_ENST00000233957.1_Silent_p.S95S|IL18R1_ENST00000334376.3_Silent_p.S95S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	95	Ig-like C2-type 1.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						ACACAGGATCTTACTTTTTCC	0.403													A	102984511	T	A	102984511	2	1	558	1	0	0	0	0	0	0	0	1	7705	1596	56	5		5	IL18R1	2	102984511	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		102984511	140214862	8	48084											
UXS1	80146	broad.mit.edu	37	chr2	106710502	106710505	+	Frame_Shift_Del	DEL	CTTT	CTTT	-																															tcagctgtggcgagtccgtcCtttctttattctggcaggct																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:106710502_106710505delCTTT	ENST00000283148.7	-	15	1352_1355	c.1255_1258delAAAG	c.(1255-1260)aaaggafs	p.KG419fs	UXS1_ENST00000409032.1_Frame_Shift_Del_p.KG246fs|UXS1_ENST00000409501.3_Frame_Shift_Del_p.KG414fs|UXS1_ENST00000540130.1_Frame_Shift_Del_p.KG357fs	NM_001253875.1|NM_025076.4	NP_001240804.1|NP_079352.2	Q8NBZ7	UXS1_HUMAN	UDP-glucuronate decarboxylase 1	414					cellular metabolic process	Golgi cisterna membrane|integral to membrane	coenzyme binding|UDP-glucuronate decarboxylase activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)	17						CGAGTCCGTCCTTTCTTTATTCTG	0.412													-	106710505	CTTT	-	106710502	7	5	558	1	0	1	0	1	0	0	0	0	17211	690	24	0	23	0	UXS1	2	106710502	Frame_Shift_Del	DEL	CTTT	TCGA-HT-7855-01A-11D-2395-08	3725991	106710502	136488871	9	48085											
CCNYL1	151195	broad.mit.edu	37	chr2	208605430	208605433	+	Splice_Site	DEL	AGTA	AGTA	-																															gagagatcacatccacttacAgtaagtgtcactttttttga																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:208605430_208605433delAGTA	ENST00000295414.3	+	6	730	c.519delAGTA	c.(517-519)aca>ac	p.T173fs	CCNYL1_ENST00000339882.5_Intron|CCNYL1_ENST00000392209.3_Splice_Site_p.T103fs			Q8N7R7	CCYL1_HUMAN	cyclin Y-like 1	173	Cyclin N-terminal.				regulation of cyclin-dependent protein kinase activity		protein kinase binding			endometrium(1)|large_intestine(1)|lung(3)	5				LUSC - Lung squamous cell carcinoma(261;0.0731)|Epithelial(149;0.139)|Lung(261;0.14)		ATCCACTTACAGTAAGTGTCACTT	0.289													-	208605433	AGTA	-	208605430	8	5	558	1	0	1	0	1	0	0	1	0	2967	202	7	0	541	0	CCNYL1	2	208605430	Splice_Site	DEL	AGTA	TCGA-HT-7855-01A-11D-2395-08	101894928	208605430	34593943	10	48086											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	558	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	507683	209113113	34086260	11	48087											
ABCA12	26154	broad.mit.edu	37	chr2	215843555	215843555	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtggtatctgaaatgccGtagcacccgatgttgaggtc	9	10	13	9	3	1	2	0	2	1	0	2	3	1	2	2	3	2	4	2	3	3	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr2:215843555G>A	ENST00000272895.7	-	32	5169	c.4950C>T	c.(4948-4950)taC>taT	p.Y1650Y	ABCA12_ENST00000389661.4_Silent_p.Y1332Y	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	1650					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		CTGAAATGCCGTAGCACCCGA	0.458													A	215843555	G	A	215843555	2	1	558	1	0	0	0	0	0	0	0	1	30	1140	40	1		1	ABCA12	2	215843555	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	6730442	215843555	27355818	12	48088											
SEC22A	26984	broad.mit.edu	37	chr3	122944084	122944085	+	Frame_Shift_Ins	INS	-	-	CCGATGGAGT																															catgtgcgaactggggtcagINSccaatggagtcacatcagca																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:122944084_122944085insCCGATGGAGT	ENST00000309934.4	+	3	1377_1378	c.481_482insCCGATGGAGT	c.(481-483)gccfs	p.-161fs	SEC22A_ENST00000481965.2_Intron|SEC22A_ENST00000477063.1_3'UTR|SEC22A_ENST00000492595.1_Frame_Shift_Ins_p.-161fs	NM_012430.4	NP_036562.2	Q96IW7	SC22A_HUMAN	SEC22 vesicle trafficking protein homolog A (S. cerevisiae)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane	transporter activity			NS(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)	10				GBM - Glioblastoma multiforme(114;0.0548)		ACTGGGGTCAGCCAATGGAGTC	0.396													CCGATGGAGT	122944085	-	CCGATGGAGT	122944084	7	5	558	1	0	1	1	0	0	0	0	0	14081	971	34	0	491	0	SEC22A	3	122944084	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		122944084	75078346	13	48089											
ZXDC	79364	broad.mit.edu	37	chr3	126191130	126191133	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															aaaacagggcactcactgtgAtaaatgtcttctcacagcct																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:126191130_126191133delATAA	ENST00000389709.3	-	2	976_979	c.923_926delTTAT	c.(922-927)tttatcfs	p.FI308fs	ZXDC_ENST00000336332.5_Frame_Shift_Del_p.FI308fs	NM_025112.4	NP_079388.3	Q2QGD7	ZXDC_HUMAN	ZXD family zinc finger C	308					positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|LRR domain binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(1)	17				GBM - Glioblastoma multiforme(114;0.155)		ACTCACTGTGATAAATGTCTTCTC	0.475													-	126191133	ATAA	-	126191130	7	5	558	1	0	1	0	1	0	0	0	0	18349	333	12	0	1692	0	ZXDC	3	126191130	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7855-01A-11D-2395-08	3247046	126191130	71831300	14	48090											
SLCO2A1	6578	broad.mit.edu	37	chr3	133654661	133654661	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtaggcgcaggcccctcGcctccccaagcacagcgagt	9	5	11	16	3	0	0	0	0	0	0	2	1	1	0	5	2	2	3	5	2	3	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:133654661G>A	ENST00000310926.4	-	13	2044	c.1771C>T	c.(1771-1773)Cga>Tga	p.R591*	SLCO2A1_ENST00000493729.1_Nonsense_Mutation_p.R515*	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	591					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						CAGGCCCCTCGCCTCCCCAAG	0.602													A	133654661	G	A	133654661	4	1	558	1	0	0	0	0	0	1	0	0	14820	1095	38	1	168	1	SLCO2A1	3	133654661	Nonsense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	7463531	133654661	64367769	15	48091											
ATP13A5	344905	broad.mit.edu	37	chr3	193081122	193081122	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttacaggaaacttcagtgtgGataagtagaggcagaatacc	15	9	11	6	0	1	2	1	0	0	2	1	4	1	4	1	3	3	2	1	3	6	5	rs12637558	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr3:193081122G>T	ENST00000342358.4	-	3	404	c.287C>A	c.(286-288)tCc>tAc	p.S96Y		NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	96			S -> Y (in dbSNP:rs12637558).		ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	p.S96F(1)|p.S96Y(1)		NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		CTTCAGTGTGGATAAGTAGAG	0.398													T	193081122	G	T	193081122	3	4	558	1	0	0	0	0	1	0	0	0	1132	1174	41	4	3479	4	ATP13A5	3	193081122	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	59426461	193081122	4941308	16	48092											
RHOH	399	broad.mit.edu	37	chr4	40245505	40245505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgtttgagtgcgccGtccgaactgccgtcaaccag	8	8	13	12	4	1	1	1	1	0	0	2	2	2	1	4	1	5	2	4	1	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:40245505G>A	ENST00000381799.5	+	3	1223	c.499G>A	c.(499-501)Gtc>Atc	p.V167I	RHOH_ENST00000505618.1_Missense_Mutation_p.V167I	NM_001278363.1|NM_001278365.1|NM_001278366.1|NM_001278367.1|NM_001278369.1|NM_004310.4	NP_001265292.1|NP_001265294.1|NP_001265295.1|NP_001265296.1|NP_001265298.1|NP_004301.1	Q15669	RHOH_HUMAN	ras homolog family member H						negative regulation of I-kappaB kinase/NF-kappaB cascade|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|T cell differentiation	cytosol|mitochondrion|plasma membrane	GTP binding|GTPase inhibitor activity|kinase inhibitor activity|Rho GTPase binding			kidney(1)|large_intestine(3)|lung(7)|ovary(1)	12						TGAGTGCGCCGTCCGAACTGC	0.542													A	40245505	G	A	40245505	3	1	558	1	0	0	0	0	1	0	0	0	13429	1145	40	1	501	1	RHOH	4	40245505	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		40245505	150908771	17	48093											
YTHDC1	91746	broad.mit.edu	37	chr4	69203308	69203310	+	In_Frame_Del	DEL	AGG	AGG	-																															acctcagaaccatctggcgtAggagatttggccctcctttc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:69203308_69203310delAGG	ENST00000344157.4	-	3	774_776	c.439_441delCCT	c.(439-441)cctdel	p.P147del	YTHDC1_ENST00000579690.1_In_Frame_Del_p.P147del|YTHDC1_ENST00000355665.3_In_Frame_Del_p.P147del	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	147										NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CATCTGGCGTAGGAGATTTGGCC	0.404													-	69203310	AGG	-	69203308	7	5	558	1	0	1	0	1	0	0	0	0	17598	407	15	0	1802	0	YTHDC1	4	69203308	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	28957803	69203308	121950968	18	48094											
ANK2	287	broad.mit.edu	37	chr4	114277079	114277080	+	Frame_Shift_Del	DEL	CT	CT	-																															ttagcagtgagccacaaagaCtctctggaagccagccctgt																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr4:114277079_114277080delCT	ENST00000357077.4	+	38	7358_7359	c.7305_7306delCT	c.(7303-7308)gactctfs	p.S2436fs	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000264366.6_Frame_Shift_Del_p.S2403fs|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000506722.1_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	2403					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		GCCACAAAGACTCTCTGGAAGC	0.51													-	114277080	CT	-	114277079	7	5	558	1	0	1	0	1	0	0	0	0	621	564	20	0	7520	0	ANK2	4	114277079	Frame_Shift_Del	DEL	CT	TCGA-HT-7855-01A-11D-2395-08	45073771	114277079	76877197	19	48095											
SLC6A3	6531	broad.mit.edu	37	chr5	1422122	1422122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtggaggtgcagcaCgccacgtctgcagaggggag	7	6	18	10	2	2	1	0	0	2	1	2	3	2	3	1	5	3	4	1	5	0	0	rs138948519		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:1422122C>T	ENST00000270349.9	-	5	788	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	SLC6A3_ENST00000453492.2_Missense_Mutation_p.V221M	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	221					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body		p.V221M(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AGGTGCAGCACGCCACGTCTG	0.662													T	1422122	C	T	1422122	3	4	558	1	0	0	0	0	1	0	0	0	14779	536	19	1	1245	1	SLC6A3	5	1422122	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		1422122	179493138	20	48096											
C5orf34	375444	broad.mit.edu	37	chr5	43488036	43488036	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacttctgtatcttttcaagTtcagaagcaacagacctgtc	12	13	6	10	0	4	2	2	0	2	2	5	2	4	2	1	0	3	3	1	0	5	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:43488036T>C	ENST00000306862.2	-	12	2070	c.1695A>G	c.(1693-1695)gaA>gaG	p.E565E	RP11-159F24.3_ENST00000505645.1_RNA	NM_198566.2	NP_940968	Q96MH7	CE034_HUMAN	chromosome 5 open reading frame 34	565										breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)|stomach(2)	21	Lung NSC(6;2.07e-05)					TCTTTTCAAGTTCAGAAGCAA	0.318													C	43488036	T	C	43488036	2	2	558	1	0	0	0	0	0	0	0	1	2315	1722	60	3		3	C5orf34	5	43488036	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08	42065914	43488036	137427224	21	48097											
SLC12A2	6558	broad.mit.edu	37	chr5	127449952	127449952	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgcttttcattagattgTcatggattgtgggtcaagct	8	17	11	5	0	3	2	3	1	0	1	3	3	3	3	0	2	2	2	0	2	2	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:127449952T>C	ENST00000262461.2	+	3	1114	c.925T>C	c.(925-927)Tca>Cca	p.S309P	SLC12A2_ENST00000343225.4_Missense_Mutation_p.S309P	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	309					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	CATTAGATTGTCATGGATTGT	0.373													C	127449952	T	C	127449952	3	2	558	1	0	0	0	0	1	0	0	0	14477	1667	58	3	935	3	SLC12A2	5	127449952	Missense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08	83961916	127449952	53465308	22	48098											
RELL2	285613	broad.mit.edu	37	chr5	141018562	141018564	+	In_Frame_Del	DEL	AGG	AGG	-																															gagatgctgggggacagtgaAggagaagggacagtgcagct																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:141018562_141018564delAGG	ENST00000297164.3	+	3	1491_1493	c.291_293delAGG	c.(289-294)gaagga>gaa	p.G98del	RELL2_ENST00000518856.1_In_Frame_Del_p.G32del|RELL2_ENST00000518025.1_Intron|RELL2_ENST00000444782.1_In_Frame_Del_p.G98del|RELL2_ENST00000521367.1_In_Frame_Del_p.G32del	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2	98						integral to membrane|plasma membrane				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGACAGTGAAGGAGAAGGGACA	0.557													-	141018564	AGG	-	141018562	7	5	558	1	0	1	0	1	0	0	0	0	13307	69	3	0	301	0	RELL2	5	141018562	In_Frame_Del	DEL	AGG	TCGA-HT-7855-01A-11D-2395-08	13568610	141018562	39896698	23	48099											
GEMIN5	25929	broad.mit.edu	37	chr5	154315435	154315438	+	Frame_Shift_Del	DEL	AAGT	AAGT	-																															atcttcatgatgaggtgaacAagtaagacagaaaattgtcc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:154315435_154315438delAAGT	ENST00000285873.7	-	3	547_550	c.472_475delACTT	c.(472-477)acttgtfs	p.TC158fs		NM_001252156.1|NM_015465.4	NP_001239085.1|NP_056280.2	Q8TEQ6	GEMI5_HUMAN	gem (nuclear organelle) associated protein 5	158					ncRNA metabolic process|protein complex assembly|spliceosomal snRNP assembly	Cajal body|cytosol|spliceosomal complex	protein binding|snRNA binding			breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TGAGGTGAACAAGTAAGACAGAAA	0.353													-	154315438	AAGT	-	154315435	7	5	558	1	0	1	0	1	0	0	0	0	6387	130	5	0	4155	0	GEMIN5	5	154315435	Frame_Shift_Del	DEL	AAGT	TCGA-HT-7855-01A-11D-2395-08	13296873	154315435	26599825	24	48100											
CCNJL	79616	broad.mit.edu	37	chr5	159707584	159707584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tagagctgcttggaggtggtGacgttgtagcgatccatgaa	9	11	15	6	2	0	3	0	2	0	1	1	5	1	4	1	3	3	4	1	3	3	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr5:159707584G>A	ENST00000393977.3	-	3	513	c.228C>T	c.(226-228)gtC>gtT	p.V76V	CCNJL_ENST00000257536.7_Silent_p.V76V|CCNJL_ENST00000505287.2_Silent_p.V121V|CCNJL_ENST00000541762.1_Silent_p.V75V|CCNJL_ENST00000519673.1_Silent_p.V76V|CCNJL_ENST00000377503.2_5'UTR	NM_024565.5	NP_078841.3	Q8IV13	CCNJL_HUMAN	cyclin J-like	76	Cyclin N-terminal.					nucleus				endometrium(2)|kidney(5)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.116)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGAGGTGGTGACGTTGTAGC	0.622													A	159707584	G	A	159707584	2	1	558	1	0	0	0	0	0	0	0	1	2959	1277	45	2		2	CCNJL	5	159707584	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	5392149	159707584	21207676	25	48101											
BMP6	654	broad.mit.edu	37	chr6	7727731	7727731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccccgggcgccgcgcacccGctcaaccgcaagagccttct	6	4	10	21	6	2	1	1	0	1	1	2	1	2	1	6	1	2	3	6	1	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:7727731G>A	ENST00000283147.6	+	1	702	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	181					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CCGCGCACCCGCTCAACCGCA	0.741													A	7727731	G	A	7727731	2	1	558	1	0	0	0	0	0	0	0	1	1470	1074	38	1		1	BMP6	6	7727731	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7727731	163387336	26	48102											
ACAT2	39	broad.mit.edu	37	chr6	160199292	160199292	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctgcaatagttaaagaaCttggattaaacccagagaag	16	9	9	7	0	0	2	0	0	0	2	0	4	0	3	1	1	4	3	1	1	8	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr6:160199292C>G	ENST00000367048.4	+	8	2763	c.1003C>G	c.(1003-1005)Ctt>Gtt	p.L335V	ACAT2_ENST00000472052.1_3'UTR|ACAT2_ENST00000541436.1_Missense_Mutation_p.L364V	NM_005891.2	NP_005882.2	Q9BWD1	THIC_HUMAN	acetyl-CoA acetyltransferase 2	335						mitochondrion|nucleolus	acetyl-CoA C-acetyltransferase activity|protein binding			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	9		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.51e-18)|BRCA - Breast invasive adenocarcinoma(81;5.87e-06)		AGTTAAAGAACTTGGATTAAA	0.388													G	160199292	C	G	160199292	3	3	558	1	0	0	0	0	1	0	0	0	122	565	20	4	1033	4	ACAT2	6	160199292	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08	152471561	160199292	10915775	27	48103											
STK31	56164	broad.mit.edu	37	chr7	23871943	23871943	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acggagaacttggataaatgTatggagaagacaagaaatgg	18	7	13	3	1	0	4	0	0	0	4	0	7	0	5	0	4	1	1	0	4	7	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr7:23871943T>A	ENST00000354639.3	+	24	3413	c.2949T>A	c.(2947-2949)tgT>tgA	p.C983*	STK31_ENST00000433467.2_Nonsense_Mutation_p.C983*|STK31_ENST00000405627.3_3'UTR|STK31_ENST00000355870.3_Nonsense_Mutation_p.C1006*|STK31_ENST00000428484.1_Nonsense_Mutation_p.C983*	NM_001260504.1|NM_032944.3	NP_001247433.1|NP_116562.2	Q9BXU1	STK31_HUMAN	serine/threonine kinase 31	1006	Protein kinase.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(31)|ovary(2)|prostate(1)|skin(7)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TGGATAAATGTATGGAGAAGA	0.333													A	23871943	T	A	23871943	4	1	558	1	0	0	0	0	0	1	0	0	15392	1644	57	5	3112	5	STK31	7	23871943	Nonsense_Mutation	SNP	T	TCGA-HT-7855-01A-11D-2395-08		23871943	135266720	28	48104											
PABPC1	26986	broad.mit.edu	37	chr8	101724994	101724995	+	Frame_Shift_Ins	INS	-	-	A																															tttgttttccattgagctccINStttccgttcatctcatccac																								rs140822921	by1000genomes	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr8:101724994_101724995insA	ENST00000318607.5	-	6	1889_1890	c.761_762insT	c.(760-762)aagfs	p.K254fs	PABPC1_ENST00000519004.1_Frame_Shift_Ins_p.K209fs|PABPC1_ENST00000519596.1_5'UTR|PABPC1_ENST00000522387.1_Frame_Shift_Ins_p.K222fs	NM_002568.3	NP_002559.2	P11940	PABP1_HUMAN	poly(A) binding protein, cytoplasmic 1	254	CSDE1-binding.|RRM 3.				mRNA polyadenylation|mRNA stabilization|negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|nuclear-transcribed mRNA poly(A) tail shortening|translation	catalytic step 2 spliceosome|cytosol	nucleotide binding|poly(A) RNA binding|protein C-terminus binding|translation activator activity			breast(2)|endometrium(4)|kidney(15)|large_intestine(4)|lung(13)|prostate(1)|skin(1)	40	all_cancers(14;6.8e-05)|all_epithelial(15;3.16e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;6.37e-11)|all cancers(13;1.11e-08)|OV - Ovarian serous cystadenocarcinoma(57;3.91e-05)|STAD - Stomach adenocarcinoma(118;0.206)			CATTGAGCTCCTTTCCGTTCAT	0.371													A	101724995	-	A	101724994	7	5	558	1	0	1	1	0	0	0	0	0	11439	680	24	0	1184	0	PABPC1	8	101724994	Frame_Shift_Ins	INS	-	TCGA-HT-7855-01A-11D-2395-08		101724994	44639028	29	48105											
OR1J4	26219	broad.mit.edu	37	chr9	125281597	125281599	+	In_Frame_Del	DEL	TTC	TTC	-																															ctcaccttcacacccccatgTtcttcttcctcagccacttg																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr9:125281597_125281599delTTC	ENST00000340750.1	+	1	178_180	c.178_180delTTC	c.(178-180)ttcdel	p.F62del		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CACCCCCATGTTCTTCTTCCTCA	0.498													-	125281599	TTC	-	125281597	7	5	558	1	0	1	0	1	0	0	0	0	11037	1725	60	0	180	0	OR1J4	9	125281597	In_Frame_Del	DEL	TTC	TCGA-HT-7855-01A-11D-2395-08		125281597	15931834	30	48106											
PTER	9317	broad.mit.edu	37	chr10	16553190	16553190	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaaatgttgctgagaggcAtaactgagaatgtgcttgat	13	12	11	5	0	0	3	0	3	0	2	0	5	0	3	0	1	3	4	0	1	4	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr10:16553190A>C	ENST00000378000.1	+	6	1231	c.985A>C	c.(985-987)Ata>Cta	p.I329L	PTER_ENST00000298942.3_Missense_Mutation_p.I329L|PTER_ENST00000535784.2_Missense_Mutation_p.I329L|PTER_ENST00000423462.2_Missense_Mutation_p.I282L	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	329					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GCTGAGAGGCATAACTGAGAA	0.383													C	16553190	A	C	16553190	3	2	558	1	0	0	0	0	1	0	0	0	12824	217	8	5	999	5	PTER	10	16553190	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		16553190	118981557	31	48107											
OR51B2	79345	broad.mit.edu	37	chr11	5345181	5345181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaaacaatcatatgccAttgccaggagggaacctgat	15	8	9	9	0	1	2	1	2	0	0	1	4	1	4	3	2	4	0	3	2	5	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:5345181A>G	ENST00000328813.2	-	1	401	c.347T>C	c.(346-348)aTg>aCg	p.M116T	HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron	NM_033180.4	NP_149420.4	Q9Y5P1	O51B2_HUMAN	olfactory receptor, family 51, subfamily B, member 2	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|large_intestine(6)|lung(21)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ATCATATGCCATTGCCAGGAG	0.458													G	5345181	A	G	5345181	3	3	558	1	0	0	0	0	1	0	0	0	11165	217	8	3	595	3	OR51B2	11	5345181	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		5345181	129661335	32	48108											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466855	57466857	+	In_Frame_Del	DEL	AGA	AGA	-																															caacctggtgtctctgagacAgaagaagtggccttgcagcc																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:57466855_57466857delAGA	ENST00000287169.3	+	11	3309_3311	c.1947_1949delAGA	c.(1945-1950)acagaa>aca	p.E651del	ZDHHC5_ENST00000527985.1_In_Frame_Del_p.E598del	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	651						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCTCTGAGACAGAAGAAGTGGCC	0.512													-	57466857	AGA	-	57466855	7	5	558	1	0	1	0	1	0	0	0	0	17719	175	7	0	1985	0	ZDHHC5	11	57466855	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	52121674	57466855	77539661	33	48109											
SCGB2A2	4250	broad.mit.edu	37	chr11	62037739	62037739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctctcccagcactgctaCgcaggtgagttctgtgcagg	6	9	12	14	1	2	1	0	1	2	0	3	1	2	1	2	2	4	5	2	2	1	2	rs137975337	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr11:62037739C>T	ENST00000525380.1	+	1	110	c.51C>T	c.(49-51)taC>taT	p.Y17Y	SCGB2A2_ENST00000227918.2_Silent_p.Y17Y			Q13296	SG2A2_HUMAN	secretoglobin, family 2A, member 2	17						extracellular region	steroid binding			large_intestine(1)|lung(4)|ovary(1)|prostate(1)	7						AGCACTGCTACGCAGGTGAGT	0.592													T	62037739	C	T	62037739	2	4	558	1	0	0	0	0	0	0	0	1	13992	547	19	1		1	SCGB2A2	11	62037739	Silent	SNP	C	TCGA-HT-7855-01A-11D-2395-08	4570884	62037739	72968777	34	48110											
C12orf71	728858	broad.mit.edu	37	chr12	27234398	27234398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcggttgcctggcttatCatctgccatgaaaatgaagg	9	11	12	9	1	2	2	1	2	1	0	2	2	2	2	2	4	2	2	2	4	4	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:27234398C>A	ENST00000429849.2	-	2	549	c.519G>T	c.(517-519)atG>atT	p.M173I		NM_001080406.1	NP_001073875.1	A8MTZ7	CL071_HUMAN	chromosome 12 open reading frame 71	173										endometrium(2)|large_intestine(1)|lung(4)|skin(1)	8						CCTGGCTTATCATCTGCCATG	0.463													A	27234398	C	A	27234398	3	1	558	1	0	0	0	0	1	0	0	0	1725	826	29	4	294	4	C12orf71	12	27234398	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		27234398	106617497	35	48111											
CALCOCO1	57658	broad.mit.edu	37	chr12	54110173	54110175	+	In_Frame_Del	DEL	CTC	CTC	-																															tccaaatttaagtgatggttCtcctgttgtgccacttggag																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr12:54110173_54110175delCTC	ENST00000548263.1	-	8	922_924	c.874_876delGAG	c.(874-876)gagdel	p.E292del	CALCOCO1_ENST00000430117.2_Intron|CALCOCO1_ENST00000550804.1_In_Frame_Del_p.E292del|CALCOCO1_ENST00000262059.4_In_Frame_Del_p.E292del			Q9P1Z2	CACO1_HUMAN	calcium binding and coiled-coil domain 1	292					steroid hormone receptor signaling pathway|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm	armadillo repeat domain binding|beta-catenin binding|ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|sequence-specific DNA binding|transcription regulatory region DNA binding			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	28						AGTGATGGTTCTCCTGTTGTGCC	0.542													-	54110175	CTC	-	54110173	7	5	558	1	0	1	0	1	0	0	0	0	2603	912	32	0	1231	0	CALCOCO1	12	54110173	In_Frame_Del	DEL	CTC	TCGA-HT-7855-01A-11D-2395-08	26875775	54110173	79741722	36	48112											
OR10G3	26533	broad.mit.edu	37	chr14	22038134	22038134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatagtacacggtgaccaCggttacatgggctccacaag	12	7	10	12	2	0	1	0	1	0	0	1	1	1	1	2	3	2	3	2	3	4	3	rs142649226	byFrequency	TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:22038134C>T	ENST00000303532.1	-	1	741	c.742G>A	c.(742-744)Gtg>Atg	p.V248M		NM_001005465.1	NP_001005465.1	Q8NGC4	O10G3_HUMAN	olfactory receptor, family 10, subfamily G, member 3	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248M(1)|p.V248L(1)		central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)	15	all_cancers(95;0.000987)			GBM - Glioblastoma multiforme(265;0.0139)		ACGGTGACCACGGTTACATGG	0.577													T	22038134	C	T	22038134	3	4	558	1	0	0	0	0	1	0	0	0	10976	536	19	1	202	1	OR10G3	14	22038134	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		22038134	85311406	37	48113											
FBXO33	254170	broad.mit.edu	37	chr14	39870639	39870639	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaacatatcttcactcttGatatcaaaagccattatata	15	16	2	8	0	4	1	2	1	2	0	4	1	4	1	1	0	2	0	1	0	8	9	rs144987416		TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr14:39870639G>A	ENST00000298097.7	-	3	1474	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	FBXO33_ENST00000554190.1_Intron	NM_203301.3	NP_976046.1	Q7Z6M2	FBX33_HUMAN	F-box protein 33	379										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	9	Hepatocellular(127;0.213)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00121)|Epithelial(34;0.169)	GBM - Glioblastoma multiforme(112;0.0425)		CTTCACTCTTGATATCAAAAG	0.398													A	39870639	G	A	39870639	2	1	558	1	0	0	0	0	0	0	0	1	5792	1280	45	2		2	FBXO33	14	39870639	Silent	SNP	G	TCGA-HT-7855-01A-11D-2395-08	17832505	39870639	67478901	38	48114											
SLC28A2	9153	broad.mit.edu	37	chr15	45561537	45561537	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatctctctttcactcaggTcatctgctcctatctcctaa	8	16	3	14	0	7	0	3	0	4	0	10	0	8	0	2	1	1	1	2	1	3	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr15:45561537T>C	ENST00000347644.3	+	14	1435	c.1370T>C	c.(1369-1371)gTc>gCc	p.V457A	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	457					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		TTCACTCAGGTCATCTGCTCC	0.478													C	45561537	T	C	45561537	5	2	558	1	0	0	0	0	0	0	1	0	14626	1681	58	3	1420	3	SLC28A2	15	45561537	Splice_Site	SNP	T	TCGA-HT-7855-01A-11D-2395-08		45561537	56969855	39	48115											
KIAA0556	23247	broad.mit.edu	37	chr16	27640072	27640072	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtctatgtcaacggtgccaaTtcggagctgaaatcatcacc	11	10	9	11	2	4	1	3	1	1	0	5	2	4	2	2	2	3	1	2	2	4	2			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr16:27640072T>C	ENST00000261588.4	+	4	250	c.231T>C	c.(229-231)aaT>aaC	p.N77N		NM_015202.2	NP_056017.2	O60303	K0556_HUMAN	KIAA0556	77										breast(4)|endometrium(7)|kidney(8)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	76						ACGGTGCCAATTCGGAGCTGA	0.522													C	27640072	T	C	27640072	2	2	558	1	0	0	0	0	0	0	0	1	8241	1490	52	3		3	KIAA0556	16	27640072	Silent	SNP	T	TCGA-HT-7855-01A-11D-2395-08		27640072	62714681	40	48116											
TP53	7157	broad.mit.edu	37	chr17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggcaaaacatcttgttgaGggcaggggagtactgtagga	11	10	15	5	0	1	1	0	1	1	0	1	3	1	3	0	5	2	5	0	5	4	5			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr17:7578542G>C	ENST00000420246.2	-	5	520	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_ENST00000359597.4_Missense_Mutation_p.L130V|TP53_ENST00000445888.2_Missense_Mutation_p.L130V|TP53_ENST00000269305.4_Missense_Mutation_p.L130V|TP53_ENST00000455263.2_Missense_Mutation_p.L130V|TP53_ENST00000413465.2_Missense_Mutation_p.L130V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	130	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(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)		ATCTTGTTGAGGGCAGGGGAG	0.552		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)			C	7578542	G	C	7578542	3	2	558	1	0	0	0	0	1	0	0	0	16482	1000	35	4	910	4	TP53	17	7578542	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		7578542	73616668	41	48117											
MBD1	4152	broad.mit.edu	37	chr18	47796399	47796399	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctaaatgtcaatcaaataAatttcatatagatcattgtc	16	15	4	6	0	5	1	4	0	1	1	6	1	5	1	0	0	0	0	0	0	8	6			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr18:47796399A>C	ENST00000339998.6	-	14	1773	c.1635T>G	c.(1633-1635)atT>atG	p.I545M	MBD1_ENST00000424334.2_Intron|MBD1_ENST00000587605.1_Intron|MBD1_ENST00000436910.1_Intron|MBD1_ENST00000349085.2_Intron|MBD1_ENST00000382948.5_Intron|MBD1_ENST00000588937.1_Intron|MBD1_ENST00000590208.1_Intron|MBD1_ENST00000585672.1_Intron|MBD1_ENST00000591416.1_3'UTR|MBD1_ENST00000353909.3_Intron|MBD1_ENST00000269471.5_Intron|MBD1_ENST00000585595.1_Intron|MBD1_ENST00000347968.3_Intron|MBD1_ENST00000269468.5_Intron	NM_001204142.1	NP_001191071.1	Q9UIS9	MBD1_HUMAN	methyl-CpG binding domain protein 1	0	TRD.				negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|nuclear speck	methyl-CpG binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36						CAATCAAATAAATTTCATATA	0.378													C	47796399	A	C	47796399	3	2	558	1	0	0	0	0	1	0	0	0	9417	29	1	5		5	MBD1	18	47796399	Missense_Mutation	SNP	A	TCGA-HT-7855-01A-11D-2395-08		47796399	30280849	42	48118											
MYO1F	4542	broad.mit.edu	37	chr19	8620581	8620581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcgcttccggaggttggCggcaatggcgtcttcggtga	6	9	17	9	5	1	1	0	1	1	0	3	3	2	2	1	6	1	3	1	6	2	3			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:8620581C>T	ENST00000338257.8	-	2	370	c.103G>A	c.(103-105)Gcc>Acc	p.A35T		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	35	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CGGAGGTTGGCGGCAATGGCG	0.617													T	8620581	C	T	8620581	3	4	558	1	0	0	0	0	1	0	0	0	10149	768	27	1	3301	1	MYO1F	19	8620581	Missense_Mutation	SNP	C	TCGA-HT-7855-01A-11D-2395-08		8620581	50508402	43	48119											
ICAM3	3385	broad.mit.edu	37	chr19	10445307	10445307	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgtcactctcggtagcAtttagctgaagttgagctgg	7	12	12	10	3	2	2	1	2	1	0	4	2	2	2	1	2	3	5	1	2	3	4			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:10445307A>G	ENST00000589261.1	-	5	1390	c.858T>C	c.(856-858)aaT>aaC	p.N286N	ICAM3_ENST00000160262.5_Silent_p.N363N			P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	363	Ig-like C2-type 3.				cell-cell adhesion|regulation of immune response	integral to plasma membrane	integrin binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			TCTCGGTAGCATTTAGCTGAA	0.632													G	10445307	A	G	10445307	2	3	558	1	0	0	0	0	0	0	0	1	7539	214	8	3		3	ICAM3	19	10445307	Silent	SNP	A	TCGA-HT-7855-01A-11D-2395-08	1824726	10445307	48683676	44	48120											
SMARCA4	6597	broad.mit.edu	37	chr19	11106926	11106928	+	In_Frame_Del	DEL	AGA	AGA	-																															gtaccgcaagctcatcgaccAgaagaaggacaagcgcctgg																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:11106926_11106928delAGA	ENST00000358026.2	+	10	1915_1917	c.1631_1633delAGA	c.(1630-1635)cagaag>cag	p.K546del	SMARCA4_ENST00000429416.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K546del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K546del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K546del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K546del|SMARCA4_ENST00000450717.3_In_Frame_Del_p.K546del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	546					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CTCATCGACCAGAAGAAGGACAA	0.576			"F, N, Mis"		NSCLC								-	11106928	AGA	-	11106926	7	5	558	1	0	1	0	1	0	0	0	0	14864	188	7	0	1665	0	SMARCA4	19	11106926	In_Frame_Del	DEL	AGA	TCGA-HT-7855-01A-11D-2395-08	661619	11106926	48022057	45	48121											
EID2B	126272	broad.mit.edu	37	chr19	40023429	40023429	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacatctccaacagcccaGtcggctccgccatagtccca	9	6	8	18	3	1	0	0	0	1	0	5	1	3	1	5	2	2	1	5	2	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr19:40023429G>C	ENST00000326282.4	-	1	65	c.14C>G	c.(13-15)aCt>aGt	p.T5S	EID2B_ENST00000601837.1_5'UTR|CTB-60E11.9_ENST00000594676.1_RNA	NM_152361.1	NP_689574.1	Q96D98	EID2B_HUMAN	EP300 interacting inhibitor of differentiation 2B	5					cell differentiation|muscle organ development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				endometrium(1)|lung(1)|urinary_tract(1)	3	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			CAACAGCCCAGTCGGCTCCGC	0.647											OREG0025463	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	40023429	G	C	40023429	3	2	558	1	0	0	0	0	1	0	0	0	5027	1029	36	4	475	4	EID2B	19	40023429	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08	28916503	40023429	19105554	46	48122											
TMPRSS6	164656	broad.mit.edu	37	chr22	37469676	37469676	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctttgcactggaatgtgGctctgcaaactgtgtgggga	7	12	13	9	0	2	0	0	0	2	0	2	2	2	2	1	4	3	3	1	4	2	1			TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chr22:37469676G>C	ENST00000381792.2	-	13	1591	c.1451C>G	c.(1450-1452)gCc>gGc	p.A484G	TMPRSS6_ENST00000406856.1_Missense_Mutation_p.A484G|TMPRSS6_ENST00000346753.3_Missense_Mutation_p.A493G|TMPRSS6_ENST00000406725.1_Missense_Mutation_p.A484G			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	493	LDL-receptor class A 1.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						CTGGAATGTGGCTCTGCAAAC	0.587													C	37469676	G	C	37469676	3	2	558	1	0	0	0	0	1	0	0	0	16351	1203	42	4	981	4	TMPRSS6	22	37469676	Missense_Mutation	SNP	G	TCGA-HT-7855-01A-11D-2395-08		37469676	13834890	47	48123											
ATRX	546	broad.mit.edu	37	chrX	76918950	76918951	+	Frame_Shift_Del	DEL	CA	CA	-																															tctccagattctccgtcactCacagtcaatttgtgccgcaa																										TCGA-HT-7855-01A-11D-2395-08	TCGA-HT-7855-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1bc9fea0-cb11-47c4-bfe6-a813ee66a3eb	0ba77c15-05f7-4769-8070-6a2a63a9f466	g.chrX:76918950_76918951delCA	ENST00000373344.5	-	12	4254_4255	c.4040_4041delTG	c.(4039-4041)gtgfs	p.V1347fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1309fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1347					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)	CTCCGTCACTCACAGTCAATTT	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76918951	CA	-	76918950	7	5	558	1	0	1	0	1	0	0	0	0	1213	813	29	0	3533	0	ATRX	23	76918950	Frame_Shift_Del	DEL	CA	TCGA-HT-7855-01A-11D-2395-08		76918950	78351610	48	48124											
CLCNKB	1188	broad.mit.edu	37	chr1	16377498	16377498	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgggaatggtaccacccGcggttcaccatctttgggac	7	10	13	11	2	2	0	1	0	1	0	2	2	2	2	3	5	1	2	3	5	2	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr1:16377498G>A	ENST00000375679.4	+	12	1293	c.1182G>A	c.(1180-1182)ccG>ccA	p.P394P	CLCNKB_ENST00000375667.3_Silent_p.P225P	NM_000085.4	NP_000076.2			chloride channel, voltage-sensitive Kb											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	21		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		GGTACCACCCGCGGTTCACCA	0.632													A	16377498	G	A	16377498	2	1	559	1	0	0	0	0	0	0	0	1	3501	1074	38	1		1	CLCNKB	1	16377498	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		16377498	232873123	1	48125											
MERTK	10461	broad.mit.edu	37	chr2	112777090	112777090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatcgagatttagctgctcGaaactgcatgtaagagtcct	11	12	9	9	2	1	2	1	0	0	2	4	4	2	2	1	0	4	4	1	0	3	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr2:112777090G>A	ENST00000295408.4	+	16	2437	c.2180G>A	c.(2179-2181)cGa>cAa	p.R727Q	MERTK_ENST00000421804.2_Missense_Mutation_p.R727Q|MERTK_ENST00000409780.1_Missense_Mutation_p.R551Q			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	727	Protein kinase.				cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						TTAGCTGCTCGAAACTGCATG	0.458													A	112777090	G	A	112777090	3	1	559	1	0	0	0	0	1	0	0	0	9554	1058	37	1	2242	1	MERTK	2	112777090	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		112777090	130422283	2	48126											
GOLGA4	2803	broad.mit.edu	37	chr3	37363363	37363363	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggaccttcagcaagaagcaGagacttacagaactgtaagt	15	7	11	8	0	1	3	1	0	0	3	1	5	1	4	1	1	4	3	1	1	5	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:37363363G>A	ENST00000361924.2	+	13	2061	c.1687G>A	c.(1687-1689)Gag>Aag	p.E563K	GOLGA4_ENST00000444882.1_Intron|GOLGA4_ENST00000356847.4_Missense_Mutation_p.E585K	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	563	Glu-rich.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GCAAGAAGCAGAGACTTACAG	0.348													A	37363363	G	A	37363363	3	1	559	1	0	0	0	0	1	0	0	0	6611	943	33	2	1807	2	GOLGA4	3	37363363	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		37363363	160659067	3	48127											
POU1F1	5449	broad.mit.edu	37	chr3	87325590	87325590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtataaaggtatcagccGaagtaaaagcttggcaactc	15	8	11	7	1	1	0	1	0	0	0	2	2	1	0	1	3	3	5	1	3	8	5			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr3:87325590G>A	ENST00000350375.2	-	1	147	c.23C>T	c.(22-24)tCg>tTg	p.S8L	POU1F1_ENST00000560656.1_Missense_Mutation_p.S8L|POU1F1_ENST00000344265.3_Missense_Mutation_p.S8L	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	8					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		GGTATCAGCCGAAGTAAAAGC	0.458													A	87325590	G	A	87325590	3	1	559	1	0	0	0	0	1	0	0	0	12346	1059	37	1	954	1	POU1F1	3	87325590	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	49962227	87325590	110696840	4	48128											
RINT1	60561	broad.mit.edu	37	chr7	105177177	105177177	+	Missense_Mutation	SNP	A	A	C																															agaacagaggacagtaagtaAaatgcagttagaagaacagg																										TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177177A>C	ENST00000257700.2	+	3	485	c.254A>C	c.(253-255)aAa>aCa	p.K85T		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ACAGTAAGTAAAATGCAGTTA	0.284													C	105177177	A	C	105177177	3	2	559	1	0	0	0	0	1	0	0	0	13467	14	1	5	264	5	RINT1	7	105177177	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08		105177177	53961486	5	48129	157	3									
RINT1	60561	broad.mit.edu	37	chr7	105177178	105177178	+	Missense_Mutation	SNP	A	A	T																															gaacagaggacagtaagtaaAatgcagttagaagaacaggt																										TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177178A>T	ENST00000257700.2	+	3	486	c.255A>T	c.(253-255)aaA>aaT	p.K85N		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	85					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CAGTAAGTAAAATGCAGTTAG	0.279													T	105177178	A	T	105177178	3	4	559	1	0	0	0	0	1	0	0	0	13467	11	1	5	265	5	RINT1	7	105177178	Missense_Mutation	SNP	A	TCGA-HT-7856-01A-11D-2395-08	1	105177178	53961485	6	48130	157	3									
RINT1	60561	broad.mit.edu	37	chr7	105177182	105177182	+	Missense_Mutation	SNP	C	C	G																															agaggacagtaagtaaaatgCagttagaagaacaggtaagt																										TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:105177182C>G	ENST00000257700.2	+	3	490	c.259C>G	c.(259-261)Cag>Gag	p.Q87E		NM_021930.4	NP_068749.3	Q6NUQ1	RINT1_HUMAN	RAD50 interactor 1	87					cell cycle|G2/M transition DNA damage checkpoint|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane	protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						AAGTAAAATGCAGTTAGAAGA	0.264													G	105177182	C	G	105177182	3	3	559	1	0	0	0	0	1	0	0	0	13467	711	25	4	269	4	RINT1	7	105177182	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08	4	105177182	53961481	7	48131	157	3									
IMPDH1	3614	broad.mit.edu	37	chr7	128040207	128040207	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtcacacctgctggagcCaccaccagttcaatccttgg	10	8	8	15	1	2	0	2	0	0	0	3	1	3	1	5	2	3	2	5	2	2	2			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr7:128040207C>T	ENST00000338791.6	-	9	1166	c.816G>A	c.(814-816)gtG>gtA	p.V272V	IMPDH1_ENST00000378717.4_Silent_p.V203V|IMPDH1_ENST00000348127.6_Silent_p.V236V|IMPDH1_ENST00000470772.1_Silent_p.V186V|IMPDH1_ENST00000354269.5_Silent_p.V262V|IMPDH1_ENST00000496200.1_Silent_p.V162V|IMPDH1_ENST00000419067.2_Silent_p.V239V|IMPDH1_ENST00000343214.4_Silent_p.V162V|IMPDH1_ENST00000480861.1_Silent_p.V182V	NM_000883.3	NP_000874.2	P20839	IMDH1_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 1	187					GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	DNA binding|IMP dehydrogenase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)	22					Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)|Ribavirin(DB00811)|Thioguanine(DB00352)	CTGCTGGAGCCACCACCAGTT	0.567													T	128040207	C	T	128040207	2	4	559	1	0	0	0	0	0	0	0	1	7784	581	21	2		2	IMPDH1	7	128040207	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	22863025	128040207	31098456	8	48132											
SLC1A2	6506	broad.mit.edu	37	chr11	35336644	35336644	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagtatatcccctgggaagGctattaacataaccacatca	14	10	7	10	0	1	1	1	1	0	0	2	2	2	2	3	2	2	2	3	2	6	5			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:35336644G>C	ENST00000278379.3	-	3	518	c.236C>G	c.(235-237)gCc>gGc	p.A79G	SLC1A2_ENST00000606205.1_Missense_Mutation_p.A79G|SLC1A2_ENST00000395753.1_Missense_Mutation_p.A70G|SLC1A2_ENST00000395750.1_Missense_Mutation_p.A70G	NM_004171.3	NP_004162.2	P43004	EAA2_HUMAN	solute carrier family 1 (glial high affinity glutamate transporter), member 2	79					D-aspartate import|L-glutamate import|synaptic transmission	integral to membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|urinary_tract(1)	24	all_lung(20;0.211)|all_epithelial(35;0.234)	all_hematologic(20;0.109)	STAD - Stomach adenocarcinoma(6;0.00731)		L-Glutamic Acid(DB00142)	CCCTGGGAAGGCTATTAACAT	0.478													C	35336644	G	C	35336644	3	2	559	1	0	0	0	0	1	0	0	0	14526	1203	42	4	1524	4	SLC1A2	11	35336644	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		35336644	99669872	9	48133											
JAM3	83700	broad.mit.edu	37	chr11	134018707	134018707	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaactacatccgcactgaCgaggaggtaatcatttagta	13	11	9	8	2	1	1	1	1	0	0	2	3	2	2	1	2	2	4	1	2	5	6	rs150992119	by1000genomes	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr11:134018707C>T	ENST00000299106.4	+	8	1050	c.891C>T	c.(889-891)gaC>gaT	p.D297D	JAM3_ENST00000441717.3_Silent_p.D246D|JAM3_ENST00000529443.2_Silent_p.D342D			Q9BX67	JAM3_HUMAN	junctional adhesion molecule 3	297					angiogenesis|blood coagulation|regulation of neutrophil chemotaxis	cell-cell contact zone|desmosome|extracellular space|integral to membrane	integrin binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)	10	all_hematologic(175;0.127)	all_cancers(12;1.06e-21)|all_epithelial(12;3.37e-16)|all_lung(97;7.03e-06)|Lung NSC(97;1.67e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0506)|Esophageal squamous(93;0.0566)		Epithelial(10;1.55e-09)|BRCA - Breast invasive adenocarcinoma(10;1.35e-08)|all cancers(11;2.81e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00402)|Lung(977;0.245)		TCCGCACTGACGAGGAGGTAA	0.463													T	134018707	C	T	134018707	2	4	559	1	0	0	0	0	0	0	0	1	8002	535	19	1		1	JAM3	11	134018707	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08	98682063	134018707	987809	10	48134											
AMHR2	269	broad.mit.edu	37	chr12	53825209	53825209	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacttcagcgttcagcaaggCccttgttccaggaatcctca	9	10	8	14	1	3	0	3	0	0	0	5	1	5	1	3	2	2	3	3	2	2	4			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:53825209C>T	ENST00000257863.4	+	11	1754	c.1674C>T	c.(1672-1674)ggC>ggT	p.G558G	AMHR2_ENST00000379791.3_Silent_p.G463G|AMHR2_ENST00000550311.1_3'UTR	NM_001164690.1|NM_020547.2	NP_001158162.1|NP_065434.1	Q16671	AMHR2_HUMAN	anti-Mullerian hormone receptor, type II	558					Mullerian duct regression		ATP binding|hormone binding|metal ion binding			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|skin(2)	34					Adenosine triphosphate(DB00171)	TTCAGCAAGGCCCTTGTTCCA	0.517													T	53825209	C	T	53825209	2	4	559	1	0	0	0	0	0	0	0	1	573	726	26	2		2	AMHR2	12	53825209	Silent	SNP	C	TCGA-HT-7856-01A-11D-2395-08		53825209	80026686	11	48135											
ANKRD52	283373	broad.mit.edu	37	chr12	56645997	56645997	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcagcgtagtggaggggAgagcagcctttacagtcggc	8	6	18	9	3	0	1	0	0	0	1	1	3	0	2	1	5	4	3	1	5	2	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr12:56645997A>G	ENST00000267116.7	-	14	1594	c.1473T>C	c.(1471-1473)tcT>tcC	p.S491S		NM_173595.3	NP_775866.2	Q8NB46	ANR52_HUMAN	ankyrin repeat domain 52	491							protein binding			endometrium(9)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(1)	29						AGTGGAGGGGAGAGCAGCCTT	0.577													G	56645997	A	G	56645997	2	3	559	1	0	0	0	0	0	0	0	1	678	291	11	3		3	ANKRD52	12	56645997	Silent	SNP	A	TCGA-HT-7856-01A-11D-2395-08	2820788	56645997	77205898	12	48136											
TRPC4	7223	broad.mit.edu	37	chr13	38357494	38357494	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatgccatgctatttcttcGtctctgaaagtagaaacaaa	13	13	6	9	1	3	2	1	1	2	1	5	2	3	2	1	0	3	2	1	0	5	4	rs12583681	by1000genomes	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr13:38357494G>A	ENST00000379705.3	-	0	834				TRPC4_ENST00000426868.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000379681.3_De_novo_Start_OutOfFrame|TRPC4_ENST00000338947.5_De_novo_Start_OutOfFrame|TRPC4_ENST00000447043.1_De_novo_Start_OutOfFrame|TRPC4_ENST00000379673.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000355779.2_De_novo_Start_OutOfFrame|TRPC4_ENST00000358477.2_De_novo_Start_OutOfFrame			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4						axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		CTATTTCTTCGTCTCTGAAAG	0.343													A	38357494	G	A	38357494	1	1	559	1	0	0	0	0	0	0	0	0	16681	1160	40	1		1	TRPC4	13	38357494	Translation_Start_Site	SNP	G	TCGA-HT-7856-01A-11D-2395-08		38357494	76812384	13	48137											
PGF	5228	broad.mit.edu	37	chr14	75416122	75416122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcatcgccgcagcagcCggtgcagcgcagcagggaga	9	5	14	13	4	1	1	1	0	1	1	3	2	1	1	2	2	5	5	2	2	0	1			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr14:75416122C>T	ENST00000555567.1	-	3	794	c.253G>A	c.(253-255)Ggc>Agc	p.G85S	PGF_ENST00000238607.6_Missense_Mutation_p.G84S|PGF_ENST00000553716.1_Missense_Mutation_p.G85S|PGF_ENST00000405431.2_Missense_Mutation_p.G85S	NM_002632.5	NP_002623.2	P49763	PLGF_HUMAN	placental growth factor	85					angiogenesis|cell differentiation|cell-cell signaling|positive regulation of cell division|positive regulation of cell proliferation|vascular endothelial growth factor receptor signaling pathway	extracellular region|membrane	growth factor activity|heparin binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)		CCGCAGCAGCCGGTGCAGCGC	0.652													T	75416122	C	T	75416122	3	4	559	1	0	0	0	0	1	0	0	0	11865	652	23	1	279	1	PGF	14	75416122	Missense_Mutation	SNP	C	TCGA-HT-7856-01A-11D-2395-08		75416122	31933418	14	48138											
SIN3A	25942	broad.mit.edu	37	chr15	75688839	75688839	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaaaactacatcaagcTgaagaggaagacaaagaagg	19	6	9	7	0	2	4	1	1	1	3	3	5	2	5	0	2	3	1	0	2	8	2			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:75688839T>C	ENST00000394947.3	-	13	2169		c.e13-2		SIN3A_ENST00000360439.4_Splice_Site|SIN3A_ENST00000394949.4_Splice_Site	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A						blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TACATCAAGCTGAAGAGGAAG	0.413													C	75688839	T	C	75688839	5	2	559	1	0	0	0	0	0	0	1	0	14419	1594	55	3	2004	3	SIN3A	15	75688839	Splice_Site	SNP	T	TCGA-HT-7856-01A-11D-2395-08		75688839	26842553	15	48139											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	4	10	17	10	2	0	1	0	1	0	0	1	1	0	1	3	5	2	1	3	5	1	1			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr15:90631839T>A	ENST00000330062.3	-	4	627	c.514A>T	c.(514-516)Agg>Tgg	p.R172W	IDH2_ENST00000539790.1_Missense_Mutation_p.R42W|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120W	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								A	90631839	T	A	90631839	3	1	559	1	0	0	0	0	1	0	0	0	7553	1579	55	5	876	5	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-7856-01A-11D-2395-08	14943000	90631839	11899553	16	48140											
MAST3	23031	broad.mit.edu	37	chr19	18248097	18248097	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttttcctggccctggactGggcagggcttctccgacaca	5	11	11	14	1	1	0	0	0	1	0	3	2	2	1	3	4	0	2	3	4	0	3			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:18248097G>A	ENST00000262811.6	+	18	1934	c.1934G>A	c.(1933-1935)tGg>tAg	p.W645*		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		AGC-kinase C-terminal.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						GCCCTGGACTGGGCAGGGCTT	0.622													A	18248097	G	A	18248097	4	1	559	1	0	0	0	0	0	1	0	0	9401	1357	47	2	2004	2	MAST3	19	18248097	Nonsense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08		18248097	40880886	17	48141											
RYR1	6261	broad.mit.edu	37	chr19	39026681	39026681	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagacagaacaaggccgaggGgctgggcatggtgaatgagg	12	4	19	6	1	0	4	0	2	0	2	0	6	0	4	1	6	1	2	1	6	3	0			TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr19:39026681G>A	ENST00000355481.4	+	81	11677	c.11546G>A	c.(11545-11547)gGg>gAg	p.G3849E	RYR1_ENST00000359596.3_Missense_Mutation_p.G3854E|RYR1_ENST00000360985.3_Missense_Mutation_p.G3854E|AC067969.2_ENST00000595853.1_RNA	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	3854					muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AAGGCCGAGGGGCTGGGCATG	0.577													A	39026681	G	A	39026681	3	1	559	1	0	0	0	0	1	0	0	0	13859	1232	43	2	11887	2	RYR1	19	39026681	Missense_Mutation	SNP	G	TCGA-HT-7856-01A-11D-2395-08	20778584	39026681	20102302	18	48142											
TAB1	10454	broad.mit.edu	37	chr22	39814843	39814843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgagctcttccgtctttcGcagctgggtgagtggggaga	6	11	16	8	2	2	3	0	2	2	1	4	5	3	3	1	3	2	3	1	3	0	2	rs143506704	byFrequency	TCGA-HT-7856-01A-11D-2395-08	TCGA-HT-7856-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1d5590-b04f-4196-86f0-d3887c399996	36437e51-9b37-4436-919f-9a5e82f7cf8f	g.chr22:39814843G>A	ENST00000216160.6	+	6	719	c.657G>A	c.(655-657)tcG>tcA	p.S219S	TAB1_ENST00000331454.3_Silent_p.S219S	NM_006116.2	NP_006107.1	Q15750	TAB1_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 1	219	PP2C-like.				activation of MAPK activity|activation of MAPKKK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane	catalytic activity|protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)|urinary_tract(1)	14						TCCGTCTTTCGCAGCTGGGTG	0.587													A	39814843	G	A	39814843	2	1	559	1	0	0	0	0	0	0	0	1	15592	1074	38	1		1	TAB1	22	39814843	Silent	SNP	G	TCGA-HT-7856-01A-11D-2395-08		39814843	11489723	19	48143											
FUCA1	2517	broad.mit.edu	37	chr1	24194728	24194728	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgaggaagagcagcagcaGcaacagcgcgggacccgccg	11	1	15	14	5	0	1	0	0	0	1	1	4	1	3	3	2	6	4	3	2	2	0			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:24194728G>C	ENST00000374479.3	-	1	56	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V		NM_000147.4	NP_000138.2	P04066	FUCO_HUMAN	fucosidase, alpha-L- 1, tissue	17					fucose metabolic process|glycosaminoglycan catabolic process	lysosome	alpha-L-fucosidase activity|cation binding			breast(1)|endometrium(1)|large_intestine(3)|lung(3)	8		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.11e-24)|Colorectal(126;5.69e-08)|COAD - Colon adenocarcinoma(152;3.15e-06)|GBM - Glioblastoma multiforme(114;9.04e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|KIRC - Kidney renal clear cell carcinoma(1967;0.00342)|STAD - Stomach adenocarcinoma(196;0.0128)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.144)		AGCAGCAGCAGCAACAGCGCG	0.746													C	24194728	G	C	24194728	3	2	560	1	0	0	0	0	1	0	0	0	6146	962	34	4	1383	4	FUCA1	1	24194728	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08		24194728	225055893	1	48144											
ABCA4	24	broad.mit.edu	37	chr1	94528252	94528252	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcagataggcaaacccGccccagatgtaccggaaatc	12	6	9	14	2	0	2	0	0	0	2	2	3	1	3	5	2	3	3	5	2	4	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr1:94528252G>T	ENST00000370225.3	-	13	1904	c.1818C>A	c.(1816-1818)ggC>ggA	p.G606G	ABCA4_ENST00000535735.1_Silent_p.G606G	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	606					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		AGGCAAACCCGCCCCAGATGT	0.562													T	94528252	G	T	94528252	2	4	560	1	0	0	0	0	0	0	0	1	34	1074	38	4		4	ABCA4	1	94528252	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08	70333524	94528252	154722369	2	48145											
PSME4	23198	broad.mit.edu	37	chr2	54148047	54148049	+	In_Frame_Del	DEL	AGG	AGG	-																															ttgataggaaagtattcagaAggaggcttgtcaaagccacc																										TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr2:54148047_54148049delAGG	ENST00000404125.1	-	18	2294_2296	c.2239_2241delCCT	c.(2239-2241)cctdel	p.P747del	PSME4_ENST00000421748.2_Intron	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	747					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGTATTCAGAAGGAGGCTTGTCA	0.374													-	54148049	AGG	-	54148047	7	5	560	1	0	1	0	1	0	0	0	0	12794	59	3	0	3406	0	PSME4	2	54148047	In_Frame_Del	DEL	AGG	TCGA-HT-7857-01A-11D-2395-08		54148047	189051326	3	48146											
C4orf17	84103	broad.mit.edu	37	chr4	100443784	100443785	+	Frame_Shift_Ins	INS	-	-	G																															ccaattgcagttacccctccINSagcactgcagtccaggagag																								rs36110345	byFrequency	TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:100443784_100443785insG	ENST00000514652.1	+	3	609_610	c.255_256insG	c.(256-258)agcfs	p.S86fs	C4orf17_ENST00000326581.4_Frame_Shift_Ins_p.S86fs|C4orf17_ENST00000503257.1_3'UTR			Q53FE4	CD017_HUMAN	chromosome 4 open reading frame 17	86										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|urinary_tract(3)	18				OV - Ovarian serous cystadenocarcinoma(123;2.08e-08)		GTTACCCCTCCAGCACTGCAGT	0.5													G	100443785	-	G	100443784	7	5	560	1	0	1	1	0	0	0	0	0	2274	581	21	0	261	0	C4orf17	4	100443784	Frame_Shift_Ins	INS	-	TCGA-HT-7857-01A-11D-2395-08		100443784	90710492	4	48147											
TET2	54790	broad.mit.edu	37	chr4	106155166	106155166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattcctgataccatcacctCccatttgccagacagaacct	11	10	4	16	0	1	3	1	1	0	2	3	3	3	3	6	0	3	0	6	0	2	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:106155166C>T	ENST00000513237.1	+	3	927	c.130C>T	c.(130-132)Ccc>Tcc	p.P44S	TET2_ENST00000305737.2_Missense_Mutation_p.P23S|TET2_ENST00000394764.1_Missense_Mutation_p.P23S|TET2_ENST00000545826.1_Missense_Mutation_p.P23S|TET2_ENST00000540549.1_Missense_Mutation_p.P23S|TET2_ENST00000380013.4_Missense_Mutation_p.P23S|TET2_ENST00000413648.2_Missense_Mutation_p.P23S			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	23					cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		ACCATCACCTCCCATTTGCCA	0.527			"Mis N, F"		MDS								T	106155166	C	T	106155166	3	4	560	1	0	0	0	0	1	0	0	0	15870	855	30	2	69	2	TET2	4	106155166	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	5711382	106155166	84999110	5	48148											
NAA15	80155	broad.mit.edu	37	chr4	140262069	140262069	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaactaaattctttaggttGgcacgtttatggccttcttc	8	18	7	8	1	2	0	0	0	2	0	3	0	2	0	1	3	1	3	1	3	5	10			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr4:140262069G>A	ENST00000296543.5	+	4	571	c.248G>A	c.(247-249)tGg>tAg	p.W83*	NAA15_ENST00000398947.1_Nonsense_Mutation_p.W83*|NAA15_ENST00000480277.2_3'UTR	NM_057175.3	NP_476516.1	Q9BXJ9	NAA15_HUMAN	N(alpha)-acetyltransferase 15, NatA auxiliary subunit	83					angiogenesis|cell differentiation|N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|transcription factor complex	protein binding			NS(1)|endometrium(3)|large_intestine(7)|liver(2)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	29						TCTTTAGGTTGGCACGTTTAT	0.363													A	140262069	G	A	140262069	4	1	560	1	0	0	0	0	0	1	0	0	10194	1357	47	2	262	2	NAA15	4	140262069	Nonsense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	34106903	140262069	50892207	6	48149											
DUSP22	56940	broad.mit.edu	37	chr6	348272	348272	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgagaagcatgaggtccatCaggtaagcagttcttagggg	11	10	14	6	0	2	2	1	2	1	1	3	3	3	2	1	4	2	4	1	4	3	4			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:348272C>T	ENST00000604971.1	+	3	1237	c.124C>T	c.(124-126)Cag>Tag	p.Q42*	DUSP22_ENST00000603453.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000605315.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000344450.5_Nonsense_Mutation_p.Q145*|DUSP22_ENST00000605035.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000605863.1_Nonsense_Mutation_p.Q42*|DUSP22_ENST00000419235.2_Nonsense_Mutation_p.Q145*			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	145					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		TGAGGTCCATCAGGTAAGCAG	0.577													T	348272	C	T	348272	4	4	560	1	0	0	0	0	0	1	0	0	4860	827	29	2	455	2	DUSP22	6	348272	Nonsense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		348272	170766795	7	48150											
OR10C1	442194	broad.mit.edu	37	chr6	29407957	29407957	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccactgatgctgccctccaGtcccctatgtacttcttcct	5	14	5	17	0	1	1	0	1	1	0	5	1	5	1	6	0	3	2	6	0	2	4			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:29407957G>T	ENST00000444197.2	+	1	875	c.165G>T	c.(163-165)caG>caT	p.Q55H	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	55					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTGCCCTCCAGTCCCCTATGT	0.567													T	29407957	G	T	29407957	3	4	560	1	0	0	0	0	1	0	0	0	10974	1020	36	4	167	4	OR10C1	6	29407957	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	29059685	29407957	141707110	8	48151											
DNAH8	1769	broad.mit.edu	37	chr6	38810444	38810444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctttctgaaagatgtcGtaaacttccaaaaggactta	13	14	6	8	1	2	2	0	1	2	1	4	3	3	3	1	1	1	1	1	1	6	5			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr6:38810444G>A	ENST00000359357.3	+	33	4213	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H	DNAH8_ENST00000449981.2_Missense_Mutation_p.R1537H|DNAH8_ENST00000441566.1_Missense_Mutation_p.R1320H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GAAAGATGTCGTAAACTTCCA	0.323													A	38810444	G	A	38810444	3	1	560	1	0	0	0	0	1	0	0	0	4646	1145	40	1	4081	1	DNAH8	6	38810444	Missense_Mutation	SNP	G	TCGA-HT-7857-01A-11D-2395-08	9402487	38810444	132304623	9	48152											
POU6F2	11281	broad.mit.edu	37	chr7	39500263	39500263	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagactcaggtgggacAggctctcagtgctacagagg	10	6	14	11	0	2	2	2	0	1	2	3	4	2	3	1	4	2	2	1	4	1	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:39500263A>C	ENST00000518318.2	+	9	1562	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	POU6F2_ENST00000559001.1_Missense_Mutation_p.Q452P|POU6F2_ENST00000403058.1_Missense_Mutation_p.Q507P			P78424	PO6F2_HUMAN	POU class 6 homeobox 2	507	POU-specific.				central nervous system development|ganglion mother cell fate determination|transcription from RNA polymerase II promoter|visual perception		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Q507L(1)|p.Q507R(1)		NS(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42						CAGGTGGGACAGGCTCTCAGT	0.602													C	39500263	A	C	39500263	3	2	560	1	0	0	0	0	1	0	0	0	12362	188	7	5	1554	5	POU6F2	7	39500263	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08		39500263	119638400	10	48153											
EXOC4	60412	broad.mit.edu	37	chr7	133749244	133749244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcgagcaggctgccatcaAgcaagccaccaaggacaaga	14	3	11	13	1	1	1	1	0	0	1	1	3	1	2	3	2	5	3	3	2	4	0			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr7:133749244A>G	ENST00000253861.4	+	18	2917	c.2888A>G	c.(2887-2889)aAg>aGg	p.K963R	EXOC4_ENST00000541309.1_Missense_Mutation_p.K251R|EXOC4_ENST00000545148.1_Missense_Mutation_p.K573R|EXOC4_ENST00000539845.1_Missense_Mutation_p.K862R	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	963					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				GCTGCCATCAAGCAAGCCACC	0.572													G	133749244	A	G	133749244	3	3	560	1	0	0	0	0	1	0	0	0	5347	72	3	3	2967	3	EXOC4	7	133749244	Missense_Mutation	SNP	A	TCGA-HT-7857-01A-11D-2395-08	94248981	133749244	25389419	11	48154											
UBR5	51366	broad.mit.edu	37	chr8	103266680	103266680	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtcttattgtgattgaGggcataggctggaatccttc	7	14	14	6	0	1	2	0	2	1	0	3	3	2	3	1	5	0	2	1	5	3	5			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr8:103266680G>A	ENST00000520539.1	-	59	8856	c.8250C>T	c.(8248-8250)ccC>ccT	p.P2750P	UBR5_ENST00000518205.1_Silent_p.P478P|UBR5_ENST00000521922.1_Silent_p.P2743P|UBR5_ENST00000220959.4_Silent_p.P2749P	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2750	HECT.|Pro-rich.				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)			TTGTGATTGAGGGCATAGGCT	0.408													A	103266680	G	A	103266680	2	1	560	1	0	0	0	0	0	0	0	1	17007	987	35	2		2	UBR5	8	103266680	Silent	SNP	G	TCGA-HT-7857-01A-11D-2395-08		103266680	43097342	12	48155											
ST8SIA6	338596	broad.mit.edu	37	chr10	17495614	17495614	+	Frame_Shift_Del	DEL	G	G	-																															cggagcgtcctcagcgctgcGggggtgccgtgggtggcctc																										TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr10:17495614delG	ENST00000377602.4	-	2	218	c.144delC	c.(142-144)cccfs	p.P48fs		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	48					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						TCAGCGCTGCGGGGGTGCCGT	0.697													-	17495614	G	-	17495614	7	5	560	1	0	1	0	1	0	0	0	0	15332	1103	39	0	1080	0	ST8SIA6	10	17495614	Frame_Shift_Del	DEL	G	TCGA-HT-7857-01A-11D-2395-08		17495614	118039133	13	48156											
ANKK1	255239	broad.mit.edu	37	chr11	113267965	113267965	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacattaccatcgagacagaCatactgctgtcactgctgca	12	9	8	12	1	1	2	1	0	0	2	2	4	1	2	1	0	5	3	1	0	2	2			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr11:113267965C>T	ENST00000303941.3	+	6	952	c.858C>T	c.(856-858)gaC>gaT	p.D286D		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	286	Protein kinase.						ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		TCGAGACAGACATACTGCTGT	0.582													T	113267965	C	T	113267965	2	4	560	1	0	0	0	0	0	0	0	1	631	477	17	2		2	ANKK1	11	113267965	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		113267965	21738551	14	48157											
FMNL3	91010	broad.mit.edu	37	chr12	50043069	50043069	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctggagcttgaagccAtacacagctccccgcttgct	8	9	10	14	1	1	1	0	1	1	0	2	2	2	2	3	2	5	5	3	2	2	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:50043069A>G	ENST00000335154.5	-	20	2591	c.2358T>C	c.(2356-2358)taT>taC	p.Y786Y	FMNL3_ENST00000352151.5_Silent_p.Y735Y|FMNL3_ENST00000550488.1_Silent_p.Y786Y|FMNL3_ENST00000293590.5_Silent_p.Y786Y	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	786	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						GCTTGAAGCCATACACAGCTC	0.572													G	50043069	A	G	50043069	2	3	560	1	0	0	0	0	0	0	0	1	6002	224	8	3		3	FMNL3	12	50043069	Silent	SNP	A	TCGA-HT-7857-01A-11D-2395-08		50043069	83808826	15	48158											
PTPN11	5781	broad.mit.edu	37	chr12	112888197	112888197	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatggaggggagaaattTgccactttggctgagttggt	8	13	15	5	0	0	2	0	1	0	1	0	4	0	3	1	5	1	3	1	5	2	4			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr12:112888197T>A	ENST00000351677.2	+	3	411	c.213T>A	c.(211-213)ttT>ttA	p.F71L	PTPN11_ENST00000392597.1_Missense_Mutation_p.F71L	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	71	SH2 1.		F -> K (in acute myeloid leukemia; requires 2 nucleotide substitutions).|F -> L (in myelodysplastic syndrome).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.F71L(5)|p.F71K(1)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GGGAGAAATTTGCCACTTTGG	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112888197	T	A	112888197	3	1	560	1	0	0	0	0	1	0	0	0	12866	1809	63	5	223	5	PTPN11	12	112888197	Missense_Mutation	SNP	T	TCGA-HT-7857-01A-11D-2395-08	62845128	112888197	20963698	16	48159											
KLHL25	64410	broad.mit.edu	37	chr15	86311637	86311637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cttgatcgtccacctgttctCcgaggggtcatagcactgga	7	11	11	12	2	2	1	1	1	1	0	5	3	3	2	3	3	1	2	3	3	1	3			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr15:86311637C>T	ENST00000337975.5	-	2	1679	c.1405G>A	c.(1405-1407)Gag>Aag	p.E469K	KLHL25_ENST00000536947.1_Missense_Mutation_p.E469K|KLHL25_ENST00000559131.1_Intron	NM_022480.3	NP_071925.2	Q9H0H3	ENC2_HUMAN	kelch-like family member 25	469						cytoplasm				breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	25						CACCTGTTCTCCGAGGGGTCA	0.602													T	86311637	C	T	86311637	3	4	560	1	0	0	0	0	1	0	0	0	8438	864	30	2	368	2	KLHL25	15	86311637	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08		86311637	16219755	17	48160											
PLA2G15	23659	broad.mit.edu	37	chr16	68293167	68293171	+	Frame_Shift_Del	DEL	CGTGC	CGTGC	-																															tggtcacctgagaaggtgttCgtgcagacacccacaatcaa																								rs142263893		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr16:68293167_68293171delCGTGC	ENST00000219345.5	+	6	929_933	c.846_850delCGTGC	c.(844-852)ttcgtgcagfs	p.FVQ282fs	PLA2G15_ENST00000566188.1_3'UTR|PLA2G15_ENST00000413021.2_Frame_Shift_Del_p.FVQ188fs|PLA2G15_ENST00000444212.2_Frame_Shift_Del_p.FVQ82fs|RP11-96D1.7_ENST00000563175.1_RNA	NM_012320.3	NP_036452.1	Q8NCC3	PAG15_HUMAN	phospholipase A2, group XV	282					fatty acid catabolic process	extracellular region|lysosome	lysophospholipase activity|phosphatidylcholine-sterol O-acyltransferase activity|phospholipid binding			kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(3)|skin(1)	12						AGAAGGTGTTCGTGCAGACACCCAC	0.58													-	68293171	CGTGC	-	68293167	7	5	560	1	0	1	0	1	0	0	0	0	12069	883	31	0	868	0	PLA2G15	16	68293167	Frame_Shift_Del	DEL	CGTGC	TCGA-HT-7857-01A-11D-2395-08		68293167	22061586	18	48161											
NF1	4763	broad.mit.edu	37	chr17	29576001	29576001	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttatttttatttttttgtaGgttagaaccatcagagagcc	10	19	7	5	0	1	2	1	0	0	2	1	3	1	2	2	1	2	2	2	1	5	10			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chr17:29576001G>A	ENST00000358273.4	+	30	4357		c.e30-1		NF1_ENST00000356175.3_Splice_Site	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1						actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTTTTGTAGGTTAGAACCA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29576001	G	A	29576001	5	1	560	1	0	0	0	0	0	0	1	0	10432	1014	35	2	4153	2	NF1	17	29576001	Splice_Site	SNP	G	TCGA-HT-7857-01A-11D-2395-08		29576001	51619209	19	48162											
RIBC1	158787	broad.mit.edu	37	chrX	53455598	53455598	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagcccggccctccagaCtcagagacctgaggcctagt	10	5	11	15	1	1	3	1	1	0	2	2	4	2	3	5	2	2	1	5	2	2	1			TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:53455598C>T	ENST00000457095.1	+	5	771	c.567C>T	c.(565-567)gaC>gaT	p.D189D	RIBC1_ENST00000414955.2_Intron|RIBC1_ENST00000375327.3_Intron|RIBC1_ENST00000490702.1_Intron	NM_144968.2	NP_659405.1	Q8N443	RIBC1_HUMAN	RIB43A domain with coiled-coils 1	0										lung(2)	2						GCCCTCCAGACTCAGAGACCT	0.552													T	53455598	C	T	53455598	2	4	560	1	0	0	0	0	0	0	0	1	13441	564	20	2		2	RIBC1	23	53455598	Silent	SNP	C	TCGA-HT-7857-01A-11D-2395-08		53455598	101814962	20	48163											
APEX2	27301	broad.mit.edu	37	chrX	55033116	55033116	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtcactggcgcccgcCatctcaactatggctcccgg	7	7	10	17	3	2	0	2	0	1	0	4	0	3	0	3	3	2	2	3	3	2	1	rs145122391		TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:55033116C>T	ENST00000374987.3	+	6	871	c.805C>T	c.(805-807)Cat>Tat	p.H269Y	APEX2_ENST00000471758.1_3'UTR	NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	269			H -> Y (identified in a patient with mtDNA maintenance disorders).		cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						TGGCGCCCGCCATCTCAACTA	0.597								Other BER factors					T	55033116	C	T	55033116	3	4	560	1	0	0	0	0	1	0	0	0	772	594	21	2	827	2	APEX2	23	55033116	Missense_Mutation	SNP	C	TCGA-HT-7857-01A-11D-2395-08	1577518	55033116	100237444	21	48164											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-HT-7857-01A-11D-2395-08	TCGA-HT-7857-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58282498-c68f-4b15-89bb-68f49431393c	370dc8dd-90cf-4a60-be75-ccc17f9310fb	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814306	ATAA	-	76814303	7	5	560	1	0	1	0	1	0	0	0	0	1213	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-7857-01A-11D-2395-08	21781187	76814303	78456257	22	48165											
IPO13	9670	broad.mit.edu	37	chr1	44415398	44415398	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggcactggcctcactggctCtcagcatgatgcctgacgct	6	10	11	14	1	2	2	2	2	1	0	3	2	2	2	2	3	2	4	2	3	0	0	rs138977771	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr1:44415398C>G	ENST00000372343.3	+	2	1056	c.394C>G	c.(394-396)Ctc>Gtc	p.L132V		NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	132					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CTCACTGGCTCTCAGCATGAT	0.587													G	44415398	C	G	44415398	3	3	561	1	0	0	0	0	1	0	0	0	7852	913	32	4	400	4	IPO13	1	44415398	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		44415398	204835223	1	48166											
SRBD1	55133	broad.mit.edu	37	chr2	45646937	45646937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtctcaccttaacaaaaCttctgaacagatgttaatat	14	15	4	8	0	2	2	1	1	2	1	3	2	2	2	1	0	3	1	1	0	6	5			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:45646937C>T	ENST00000263736.4	-	17	2208	c.2146G>A	c.(2146-2148)Gtt>Att	p.V716I	SRBD1_ENST00000490133.1_5'UTR|SRBD1_ENST00000535761.1_Missense_Mutation_p.V235I	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	716					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTTAACAAAACTTCTGAACAG	0.428													T	45646937	C	T	45646937	3	4	561	1	0	0	0	0	1	0	0	0	15229	565	20	2	861	2	SRBD1	2	45646937	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		45646937	197552436	2	48167											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	561	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08	163466176	209113113	34086260	3	48168											
UGT2B28	54490	broad.mit.edu	37	chr4	70152589	70152589	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attgcaacagcccttgccaaGatcccacaaaaggtaagata	16	7	7	11	0	0	2	0	0	0	2	1	2	1	2	3	1	4	2	3	1	6	4			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr4:70152589G>C	ENST00000335568.5	+	3	992	c.990G>C	c.(988-990)aaG>aaC	p.K330N	UGT2B28_ENST00000511240.1_Missense_Mutation_p.K330N	NM_053039.1	NP_444267.1	Q9BY64	UDB28_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B28	330					xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31					Flunitrazepam(DB01544)	CCCTTGCCAAGATCCCACAAA	0.423													C	70152589	G	C	70152589	3	2	561	1	0	0	0	0	1	0	0	0	17062	933	33	4	1000	4	UGT2B28	4	70152589	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		70152589	121001687	4	48169											
FYB	2533	broad.mit.edu	37	chr5	39203057	39203057	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccccccgtgttatatttCgccatgagggactttacatc	7	14	8	12	2	0	1	0	1	0	0	2	2	0	2	4	1	2	1	4	1	3	6			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr5:39203057C>T	ENST00000351578.6	-	2	196	c.6G>A	c.(4-6)gcG>gcA	p.A2A	FYB_ENST00000540520.1_Silent_p.A12A|FYB_ENST00000505428.1_Silent_p.A2A|FYB_ENST00000515010.1_Silent_p.A2A|FYB_ENST00000512982.1_Silent_p.A2A	NM_199335.3	NP_955367.1	O15117	FYB_HUMAN	FYN binding protein	2					cell junction assembly|immune response|intracellular protein kinase cascade|NLS-bearing substrate import into nucleus|protein phosphorylation|T cell receptor signaling pathway	cytosol|nucleus	protein binding			endometrium(2)|kidney(4)|large_intestine(6)|liver(1)|lung(29)|ovary(2)|upper_aerodigestive_tract(1)	45	all_lung(31;0.000343)		Epithelial(62;0.235)			TGTTATATTTCGCCATGAGGG	0.433													T	39203057	C	T	39203057	2	4	561	1	0	0	0	0	0	0	0	1	6176	871	31	1		1	FYB	5	39203057	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		39203057	141712203	5	48170											
HOXA1	3198	broad.mit.edu	37	chr7	27134952	27134952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaagatgtctccgatgcggGggagcgacaggcttcttggt	8	9	16	8	3	2	2	0	0	2	2	3	5	2	3	1	4	2	1	1	4	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:27134952G>A	ENST00000343060.4	-	1	641	c.580C>T	c.(580-582)Ccc>Tcc	p.P194S	HOXA1_ENST00000355633.5_Missense_Mutation_p.P126L	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	194						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						TCCGATGCGGGGGAGCGACAG	0.552													A	27134952	G	A	27134952	3	1	561	1	0	0	0	0	1	0	0	0	7343	1232	43	2	435	2	HOXA1	7	27134952	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		27134952	132003711	6	48171											
SSPO	23145	broad.mit.edu	37	chr7	149481078	149481078	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaggactgtggagagctgGgcagctgtgtggctggttgt	6	10	19	6	0	0	2	0	0	0	2	0	4	0	3	0	5	2	5	0	5	0	1			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr7:149481078G>A	ENST00000378016.2	+	0	2560							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			TGGAGAGCTGGGCAGCTGTGT	0.647													A	149481078	G	A	149481078	1	1	561	0	1	0	0	0	0	0	0	0	15285	1232	43	2		2	SSPO	7	149481078	RNA	SNP	G	TCGA-HT-7858-01A-11D-2395-08	122346126	149481078	9657585	7	48172											
PLA2G12B	84647	broad.mit.edu	37	chr10	74700992	74700992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatcgagtggagacaccatCggaattttgcatcacagcga	13	8	11	9	3	1	2	1	0	0	2	3	6	1	3	1	2	2	1	1	2	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr10:74700992C>T	ENST00000373032.3	-	3	493	c.401G>A	c.(400-402)cGa>cAa	p.R134Q		NM_032562.2	NP_115951.2	Q9BX93	PG12B_HUMAN	phospholipase A2, group XIIB	134					lipid catabolic process	extracellular region	calcium ion binding|phospholipase A2 activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	9	Prostate(51;0.0198)					GAGACACCATCGGAATTTTGC	0.502													T	74700992	C	T	74700992	3	4	561	1	0	0	0	0	1	0	0	0	12068	884	31	1	194	1	PLA2G12B	10	74700992	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08		74700992	60833755	8	48173											
OR6C2	341416	broad.mit.edu	37	chr12	55846753	55846753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttccattgcctatggaagCtgcatcttcatctatatcaa	10	15	6	10	0	4	0	2	0	2	0	5	1	5	1	2	1	3	3	2	1	5	6			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr12:55846753C>T	ENST00000322678.1	+	1	756	c.756C>T	c.(754-756)agC>agT	p.S252S	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	252					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CCTATGGAAGCTGCATCTTCA	0.428													T	55846753	C	T	55846753	2	4	561	1	0	0	0	0	0	0	0	1	11267	796	28	2		2	OR6C2	12	55846753	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		55846753	78005142	9	48174											
CNOT1	23019	broad.mit.edu	37	chr16	58564252	58564252	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcatacataggccacccCtgaaagaaagaaatgtacat	16	8	8	9	0	0	3	0	1	0	2	0	3	0	3	3	1	3	2	3	1	6	3			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr16:58564252C>A	ENST00000317147.5	-	43	6510		c.e43-1		CNOT1_ENST00000569240.1_Splice_Site|CNOT1_ENST00000245138.4_Splice_Site	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1						nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TAGGCCACCCCTGAAAGAAAG	0.393													A	58564252	C	A	58564252	5	1	561	1	0	0	0	0	0	0	1	0	3648	695	24	4	981	4	CNOT1	16	58564252	Splice_Site	SNP	C	TCGA-HT-7858-01A-11D-2395-08		58564252	31790501	10	48175											
PITPNM3	83394	broad.mit.edu	37	chr17	6358837	6358837	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggttgcgcttccgcaggaActctggctgcgcgtgcagcc	4	9	15	13	4	1	0	0	0	1	0	2	1	2	1	2	3	5	5	2	3	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:6358837A>C	ENST00000262483.8	-	20	2833	c.2746T>G	c.(2746-2748)Ttc>Gtc	p.F916V	PITPNM3_ENST00000421306.3_Missense_Mutation_p.F880V|PITPNM3_ENST00000576664.1_5'UTR	NM_031220.3	NP_112497.2	Q9BZ71	PITM3_HUMAN	PITPNM family member 3						phosphatidylinositol metabolic process	endomembrane system|integral to membrane	calcium ion binding|lipid binding|phosphatidylinositol transporter activity|receptor tyrosine kinase binding			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(10)|ovary(3)|prostate(3)|skin(2)	36				Colorectal(2;0.000372)|READ - Rectum adenocarcinoma(2;0.0276)|LUAD - Lung adenocarcinoma(2;0.0836)|COAD - Colon adenocarcinoma(228;0.185)		TTCCGCAGGAACTCTGGCTGC	0.697													C	6358837	A	C	6358837	3	2	561	1	0	0	0	0	1	0	0	0	12029	43	2	5	182	5	PITPNM3	17	6358837	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08		6358837	74836373	11	48176											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	561	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08	1219569	7578406	73616804	12	48177											
CD300LB	124599	broad.mit.edu	37	chr17	72521999	72521999	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctccatggtcacagtgaaCgtgcggtctttctgattgtc	6	13	10	12	2	3	2	1	2	2	0	5	2	4	2	2	2	2	0	2	2	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:72521999C>T	ENST00000392621.1	-	2	373	c.369G>A	c.(367-369)acG>acA	p.T123T	CD300LB_ENST00000314401.3_Silent_p.T123T	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						TCACAGTGAACGTGCGGTCTT	0.517													T	72521999	C	T	72521999	2	4	561	1	0	0	0	0	0	0	0	1	3029	523	19	1		1	CD300LB	17	72521999	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	64943593	72521999	8673211	13	48178											
CYTH1	9267	broad.mit.edu	37	chr17	76694917	76694917	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacccggaggagctcctcCggcaggtctcccccatcatt	6	9	9	17	2	2	0	1	0	1	0	5	2	4	2	5	4	2	2	5	4	1	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr17:76694917C>T	ENST00000589297.1	-	8	1199	c.507G>A	c.(505-507)ccG>ccA	p.P169P	CYTH1_ENST00000585509.1_Silent_p.P169P|CYTH1_ENST00000591455.1_Silent_p.P228P|CYTH1_ENST00000361101.4_Silent_p.P228P|CYTH1_ENST00000589296.1_Intron|CYTH1_ENST00000446868.3_Silent_p.P228P			Q15438	CYH1_HUMAN	cytohesin 1	228	SEC7.				regulation of ARF protein signal transduction|regulation of cell adhesion|vesicle-mediated transport	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	19						GGAGCTCCTCCGGCAGGTCTC	0.488													T	76694917	C	T	76694917	2	4	561	1	0	0	0	0	0	0	0	1	4236	639	23	1		1	CYTH1	17	76694917	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08	4172918	76694917	4500293	14	48179											
DSC3	1825	broad.mit.edu	37	chr18	28574169	28574169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcatgcttctgctaatGtaataaatttgggttccaaa	11	16	8	6	0	1	0	0	0	1	0	2	0	2	0	1	1	3	5	1	1	5	7			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr18:28574169G>C	ENST00000360428.4	-	16	2743	c.2663C>G	c.(2662-2664)aCa>aGa	p.T888R	DSC3_ENST00000434452.1_3'UTR	NM_001941.3	NP_001932.2	Q14574	DSC3_HUMAN	desmocollin 3	888					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TTCTGCTAATGTAATAAATTT	0.388													C	28574169	G	C	28574169	3	2	561	1	0	0	0	0	1	0	0	0	4806	1377	48	4	31	4	DSC3	18	28574169	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		28574169	49503079	15	48180											
CACNG8	59283	broad.mit.edu	37	chr19	54466583	54466583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcacggccggcggcgacGacgggaccccccaccgcggg	6	1	15	19	8	1	0	1	0	0	0	1	3	1	1	6	5	0	0	6	5	0	0			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr19:54466583G>A	ENST00000270458.2	+	1	290	c.187G>A	c.(187-189)Gac>Aac	p.D63N		NM_031895.5	NP_114101	Q8WXS5	CCG8_HUMAN	calcium channel, voltage-dependent, gamma subunit 8	63					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|cell junction|endocytic vesicle membrane|postsynaptic density|postsynaptic membrane|voltage-gated calcium channel complex	voltage-gated calcium channel activity			kidney(1)|large_intestine(3)|lung(8)|urinary_tract(1)	13	all_cancers(19;0.0385)|all_epithelial(19;0.0207)|all_lung(19;0.145)|Lung NSC(19;0.168)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.162)		CGGCGGCGACGACGGGACCCC	0.701													A	54466583	G	A	54466583	3	1	561	1	0	0	0	0	1	0	0	0	2589	1058	37	1	189	1	CACNG8	19	54466583	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		54466583	4662400	16	48181											
GZF1	64412	broad.mit.edu	37	chr20	23345745	23345745	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccctaaaaagaaatatacgaGaagactccgagagcagcaga	19	4	9	9	2	0	5	0	0	0	5	1	7	1	5	2	0	3	2	2	0	7	3			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr20:23345745G>C	ENST00000338121.5	+	2	802	c.725G>C	c.(724-726)aGa>aCa	p.R242T	GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Missense_Mutation_p.R242T|GZF1_ENST00000542987.1_Intron			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	242					transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					AAATATACGAGAAGACTCCGA	0.532													C	23345745	G	C	23345745	3	2	561	1	0	0	0	0	1	0	0	0	6969	942	33	4	727	4	GZF1	20	23345745	Missense_Mutation	SNP	G	TCGA-HT-7858-01A-11D-2395-08		23345745	39679775	17	48182											
DSCAM	1826	broad.mit.edu	37	chr21	41710291	41710291	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgtttttcattggtcgaAtgcttgcaggccctggagag	7	14	13	7	1	1	2	1	1	0	1	2	4	1	2	1	3	2	3	1	3	1	4			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr21:41710291A>C	ENST00000400454.1	-	8	1997	c.1520T>G	c.(1519-1521)aTt>aGt	p.I507S		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	507	Ig-like C2-type 6.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				CATTGGTCGAATGCTTGCAGG	0.403													C	41710291	A	C	41710291	3	2	561	1	0	0	0	0	1	0	0	0	4807	101	4	5	4622	5	DSCAM	21	41710291	Missense_Mutation	SNP	A	TCGA-HT-7858-01A-11D-2395-08		41710291	6419604	18	48183											
MTMR3	8897	broad.mit.edu	37	chr22	30416522	30416522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccacacccaatgggcattgCgccaatggggaggctggtag	9	6	14	12	1	0	0	0	0	0	0	0	1	0	1	3	5	1	3	3	5	3	2	rs147400483	byFrequency	TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30416522C>T	ENST00000333027.3	+	17	3202	c.2874C>T	c.(2872-2874)tgC>tgT	p.C958C	MTMR3_ENST00000406629.1_Silent_p.C958C|MTMR3_ENST00000351488.3_Silent_p.C958C|MTMR3_ENST00000323630.5_Silent_p.C822C|CTA-85E5.10_ENST00000453743.2_RNA|CTA-85E5.10_ENST00000429350.1_RNA|MTMR3_ENST00000401950.2_Silent_p.C958C	NM_153050.2|NM_153051.2	NP_694690.1|NP_694691.1	Q13615	MTMR3_HUMAN	myotubularin related protein 3	958					phosphatidylinositol dephosphorylation	cytoplasm|membrane|membrane fraction|nucleus	metal ion binding|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity	p.C958C(2)		breast(3)|large_intestine(3)|ovary(2)|skin(8)|upper_aerodigestive_tract(1)	17			OV - Ovarian serous cystadenocarcinoma(5;0.00204)|Epithelial(10;0.06)|all cancers(5;0.107)			ATGGGCATTGCGCCAATGGGG	0.582													T	30416522	C	T	30416522	2	4	561	1	0	0	0	0	0	0	0	1	10021	776	27	1		1	MTMR3	22	30416522	Silent	SNP	C	TCGA-HT-7858-01A-11D-2395-08		30416522	20888044	19	48184											
SEC14L4	284904	broad.mit.edu	37	chr22	30886219	30886219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catccggctgtaggtgttgtCgaagcgcaggacatctgcag	8	9	14	10	3	1	0	0	0	1	0	3	2	2	1	1	3	2	5	1	3	2	2			TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chr22:30886219C>T	ENST00000540456.1	-	13	1244	c.1051G>A	c.(1051-1053)Gac>Aac	p.D351N	SEC14L4_ENST00000255858.7_Missense_Mutation_p.D366N|SEC14L4_ENST00000381982.3_Intron|SEC14L4_ENST00000392772.2_Silent_p.S326S|RP4-539M6.14_ENST00000610156.1_RNA			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	366	GOLD.					integral to membrane|intracellular	lipid binding|transporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	TAGGTGTTGTCGAAGCGCAGG	0.592													T	30886219	C	T	30886219	3	4	561	1	0	0	0	0	1	0	0	0	14077	884	31	1	134	1	SEC14L4	22	30886219	Missense_Mutation	SNP	C	TCGA-HT-7858-01A-11D-2395-08	469697	30886219	20418347	20	48185											
ATRX	546	broad.mit.edu	37	chrX	76939540	76939540	+	Frame_Shift_Del	DEL	T	T	-																															ccaatgcaagatgagccttcTtaatatcagccaacacagac																										TCGA-HT-7858-01A-11D-2395-08	TCGA-HT-7858-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	59cdcd9b-04e6-43cb-9f34-562105029994	10322624-d067-43ec-8617-7c45e71c9c3f	g.chrX:76939540delT	ENST00000373344.5	-	9	1422	c.1208delA	c.(1207-1209)aagfs	p.K404fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K366fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	404					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)	ATGAGCCTTCTTAATATCAGC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939540	T	-	76939540	7	5	561	1	0	1	0	1	0	0	0	0	1213	1609	56	0	6378	0	ATRX	23	76939540	Frame_Shift_Del	DEL	T	TCGA-HT-7858-01A-11D-2395-08		76939540	78331020	21	48186											
GRHL3	57822	broad.mit.edu	37	chr1	24671385	24671385	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttttcacttcattgcAggcagccccctcggcaggac	6	12	9	14	1	3	0	2	0	1	0	4	1	3	1	2	3	2	3	2	3	0	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:24671385A>C	ENST00000361548.4	+	12	1649		c.e12-1		GRHL3_ENST00000350501.5_Splice_Site|GRHL3_ENST00000342072.4_Splice_Site|GRHL3_ENST00000356046.2_Splice_Site|GRHL3_ENST00000236255.4_Splice_Site	NM_198173.2	NP_937816.1	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)						regulation of actin cytoskeleton organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		ACTTCATTGCAGGCAGCCCCC	0.572													C	24671385	A	C	24671385	5	2	562	1	0	0	0	0	0	0	1	0	6820	202	7	5	1500	5	GRHL3	1	24671385	Splice_Site	SNP	A	TCGA-HT-7860-01A-11D-2395-08		24671385	224579236	1	48187											
WDR65	149465	broad.mit.edu	37	chr1	43675514	43675514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcggtgggaaccattcGtgccatgaagtaccctctgc	8	9	10	14	2	1	1	0	1	1	0	3	2	1	2	4	2	4	1	4	2	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:43675514G>A	ENST00000372492.4	+	11	2180	c.1856G>A	c.(1855-1857)cGt>cAt	p.R619H	WDR65_ENST00000528956.1_Missense_Mutation_p.R619H	NM_001195831.2	NP_001182760.2	Q96MR6	WDR65_HUMAN	WD repeat domain 65	619										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGAACCATTCGTGCCATGAAG	0.552													A	43675514	G	A	43675514	3	1	562	1	0	0	0	0	1	0	0	0	17418	1145	40	1	1894	1	WDR65	1	43675514	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	19004129	43675514	205575107	2	48188											
TTC4	7268	broad.mit.edu	37	chr1	55181589	55181589	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcatcagctatggaacAacctgggcaggatcccacct	11	6	11	13	0	1	0	1	0	0	0	2	2	2	2	3	4	3	3	3	4	3	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:55181589A>G	ENST00000371281.3	+	1	95	c.8A>G	c.(7-9)cAa>cGa	p.Q3R	TTC4_ENST00000371284.5_3'UTR|MROH7-TTC4_ENST00000414150.2_Intron	NM_004623.4	NP_004614.3	O95801	TTC4_HUMAN	tetratricopeptide repeat domain 4	3							binding			breast(2)|endometrium(3)|kidney(1)|lung(2)|stomach(1)	9						GCTATGGAACAACCTGGGCAG	0.642													G	55181589	A	G	55181589	3	3	562	1	0	0	0	0	1	0	0	0	16812	130	5	3	10	3	TTC4	1	55181589	Missense_Mutation	SNP	A	TCGA-HT-7860-01A-11D-2395-08	11506075	55181589	194069032	3	48189											
LCE2A	353139	broad.mit.edu	37	chr1	152671462	152671462	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtgtcctccaaagtgcCgacctcagtgcccagcccca	9	6	8	18	1	1	0	1	0	0	0	3	1	3	0	8	0	3	0	8	0	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:152671462C>T	ENST00000368779.1	+	2	136	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_178428.3	NP_848515.1	Q5TA79	LCE2A_HUMAN	late cornified envelope 2A	29	Cys-rich.				keratinization					breast(1)|large_intestine(1)|liver(2)|lung(4)	8	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TCCAAAGTGCCGACCTCAGTG	0.637													T	152671462	C	T	152671462	4	4	562	1	0	0	0	0	0	1	0	0	8724	644	23	1	87	1	LCE2A	1	152671462	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	97489873	152671462	96579159	4	48190											
DDR2	4921	broad.mit.edu	37	chr1	162746049	162746049	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgggtaagaactacacaatCaagatagctgactttggaat	15	10	10	6	0	1	3	1	1	0	2	1	4	1	4	0	2	3	2	0	2	7	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:162746049C>A	ENST00000367922.3	+	17	2610	c.2172C>A	c.(2170-2172)atC>atA	p.I724I	DDR2_ENST00000367921.3_Silent_p.I724I	NM_001014796.1	NP_001014796.1	Q16832	DDR2_HUMAN	discoidin domain receptor tyrosine kinase 2		Protein kinase.				cell adhesion	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(2)|kidney(1)|lung(2)|ovary(1)|skin(1)	7	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.113)			ACTACACAATCAAGATAGCTG	0.488													A	162746049	C	A	162746049	2	1	562	1	0	0	0	0	0	0	0	1	4371	816	29	4		4	DDR2	1	162746049	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	10074587	162746049	86504572	5	48191											
PTPRC	5788	broad.mit.edu	37	chr1	198687263	198687263	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactgtctccatgacatcAgataatagtatgcatgtcaa	14	12	7	8	0	3	3	2	2	1	1	4	3	3	3	1	0	1	2	1	0	4	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:198687263A>T	ENST00000367376.2	+	14	1656	c.1485A>T	c.(1483-1485)tcA>tcT	p.S495S	PTPRC_ENST00000594404.1_Silent_p.S334S|PTPRC_ENST00000348564.6_Silent_p.S336S|PTPRC_ENST00000352140.3_Silent_p.S447S|PTPRC_ENST00000442510.2_Silent_p.S497S	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	495	Fibronectin type-III 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CCATGACATCAGATAATAGTA	0.388													T	198687263	A	T	198687263	2	4	562	1	0	0	0	0	0	0	0	1	12885	175	7	5		5	PTPRC	1	198687263	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08	35941214	198687263	50563358	6	48192											
PLXNA2	5362	broad.mit.edu	37	chr1	208272302	208272302	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caggcctgttggcatttgtcCctgcgggagcacctgccata	6	10	12	13	1	0	0	0	0	0	0	1	1	1	1	4	3	3	3	4	3	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr1:208272302C>A	ENST00000367033.3	-	6	2377	c.1620G>T	c.(1618-1620)agG>agT	p.R540S		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	540					axon guidance	integral to membrane|intracellular|plasma membrane				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		GGCATTTGTCCCTGCGGGAGC	0.557													A	208272302	C	A	208272302	3	1	562	1	0	0	0	0	1	0	0	0	12197	622	22	4	4172	4	PLXNA2	1	208272302	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	9585039	208272302	40978319	7	48193											
C2orf71	388939	broad.mit.edu	37	chr2	29295046	29295046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagctttgccttgttcGtcctcaggatggggattgca	5	14	11	11	1	1	0	1	0	0	0	4	2	3	2	3	3	3	3	3	3	0	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:29295046G>A	ENST00000331664.5	-	1	2081	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	694					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TGCCTTGTTCGTCCTCAGGAT	0.532													A	29295046	G	A	29295046	2	1	562	1	0	0	0	0	0	0	0	1	2212	1136	40	1		1	C2orf71	2	29295046	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		29295046	213904327	8	48194											
EHBP1	23301	broad.mit.edu	37	chr2	63182658	63182658	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttgcttttaagcatcgaTtgttatctagacaagaagaa	13	15	7	6	1	2	3	0	0	2	3	3	4	2	3	0	0	2	3	0	0	6	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:63182658T>C	ENST00000263991.5	+	15	2910	c.2428T>C	c.(2428-2430)Ttg>Ctg	p.L810L	EHBP1_ENST00000405289.1_Silent_p.L775L|EHBP1_ENST00000431489.1_Silent_p.L775L|EHBP1_ENST00000405015.3_Silent_p.L775L|EHBP1_ENST00000354487.3_Silent_p.L775L	NM_015252.3	NP_056067.2	Q8NDI1	EHBP1_HUMAN	EH domain binding protein 1	810						cytoplasm|membrane				biliary_tract(1)|breast(3)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(8)|lung(22)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	47	Lung NSC(7;0.0951)|all_lung(7;0.169)		LUSC - Lung squamous cell carcinoma(7;7.74e-05)|Epithelial(17;0.189)			TAAGCATCGATTGTTATCTAG	0.358													C	63182658	T	C	63182658	2	2	562	1	0	0	0	0	0	0	0	1	5014	1490	52	3		3	EHBP1	2	63182658	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	33887612	63182658	180016715	9	48195											
ZNF638	27332	broad.mit.edu	37	chr2	71576931	71576931	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagtcctccaataatcggTcctttttctcagttgagagt	8	15	9	9	1	1	2	1	2	1	1	6	3	4	2	3	1	0	1	3	1	2	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:71576931T>A	ENST00000409544.1	+	2	1477	c.847T>A	c.(847-849)Tcc>Acc	p.S283T	ZNF638_ENST00000377802.2_Missense_Mutation_p.S283T|ZNF638_ENST00000355812.3_Missense_Mutation_p.S283T|ZNF638_ENST00000410075.1_3'UTR|ZNF638_ENST00000264447.4_Missense_Mutation_p.S283T	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	283					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAATAATCGGTCCTTTTTCTC	0.428													A	71576931	T	A	71576931	3	1	562	1	0	0	0	0	1	0	0	0	18156	1667	58	5	849	5	ZNF638	2	71576931	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	8394273	71576931	171622442	10	48196											
SNRNP200	23020	broad.mit.edu	37	chr2	96962796	96962796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactttggcagcttttccaCtggaagcagttgctagaaga	11	12	10	8	0	0	2	0	0	0	2	1	3	1	3	1	2	4	5	1	2	4	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:96962796C>T	ENST00000323853.5	-	12	1467	c.1390G>A	c.(1390-1392)Gtg>Atg	p.V464M	SNRNP200_ENST00000349783.5_Missense_Mutation_p.V464M	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	464						catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						AGCTTTTCCACTGGAAGCAGT	0.483													T	96962796	C	T	96962796	3	4	562	1	0	0	0	0	1	0	0	0	14946	565	20	2	5156	2	SNRNP200	2	96962796	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	25385865	96962796	146236577	11	48197											
CNGA3	1261	broad.mit.edu	37	chr2	98999852	98999852	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctctaccttcccgcagcGcctggcccctggccaaatgc	5	9	8	19	2	2	0	0	0	2	0	4	0	3	0	6	2	3	1	6	2	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:98999852G>A	ENST00000393504.1	+	5	814	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	CNGA3_ENST00000436404.2_Intron|CNGA3_ENST00000272602.2_Splice_Site_p.A133T|CNGA3_ENST00000409937.1_Splice_Site_p.A137T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	133					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TTCCCGCAGCGCCTGGCCCCT	0.587													A	98999852	G	A	98999852	5	1	562	1	0	0	0	0	0	0	1	0	3629	1101	38	1	411	1	CNGA3	2	98999852	Splice_Site	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2037056	98999852	144199521	12	48198											
TTN	7273	broad.mit.edu	37	chr2	179577501	179577501	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatattctccactttgtGatgtatctacatcgaacaac	13	14	5	9	1	2	1	0	1	2	0	4	2	2	1	1	0	3	2	1	0	7	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:179577501G>T	ENST00000589042.1	-	94	27475	c.27251C>A	c.(27250-27252)tCa>tAa	p.S9084*	TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Nonsense_Mutation_p.S7840*|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Nonsense_Mutation_p.S8767*|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8767	Ig-like 74.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCCACTTTGTGATGTATCTAC	0.423													T	179577501	G	T	179577501	4	4	562	1	0	0	0	0	0	1	0	0	16837	1294	45	4	77354	4	TTN	2	179577501	Nonsense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	80577649	179577501	63621872	13	48199											
ZSWIM2	151112	broad.mit.edu	37	chr2	187693519	187693519	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatacacttcctgtgaaacTttaaaaaaaaggtaagctaa	19	10	5	7	0	0	1	0	1	0	0	1	1	1	1	1	1	3	2	1	1	9	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:187693519T>A	ENST00000295131.2	-	9	1135		c.e9-2			NM_182521.2	NP_872327.2	Q8NEG5	ZSWM2_HUMAN	zinc finger, SWIM-type containing 2						apoptosis		zinc ion binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(28)|ovary(2)|prostate(4)|skin(6)|urinary_tract(1)	52			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.164)			CCTGTGAAACTTTAAAAAAAA	0.279													A	187693519	T	A	187693519	5	1	562	1	0	0	0	0	0	0	1	0	18338	1623	56	5	811	5	ZSWIM2	2	187693519	Splice_Site	SNP	T	TCGA-HT-7860-01A-11D-2395-08	8116018	187693519	55505854	14	48200											
SPEG	10290	broad.mit.edu	37	chr2	220299748	220299748	+	Frame_Shift_Del	DEL	C	C	-																															aggatgcgggcacgagggcaCcccccagccccggagtgccc																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:220299748delC	ENST00000312358.7	+	1	181	c.49delC	c.(49-51)cccfs	p.P18fs		NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	18					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACGAGGGCACCCCCCAGCCC	0.766													-	220299748	C	-	220299748	7	5	562	1	0	1	0	1	0	0	0	0	15132	507	18	0	51	0	SPEG	2	220299748	Frame_Shift_Del	DEL	C	TCGA-HT-7860-01A-11D-2395-08	32606229	220299748	22899625	15	48201											
UGT1A4	54657	broad.mit.edu	37	chr2	234627498	234627498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccaggttcccctgccgcGgctggccacaggactgctgc	5	7	12	17	2	0	0	0	0	0	0	2	1	2	1	5	4	3	3	5	4	0	1	rs149314940		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr2:234627498G>A	ENST00000373409.3	+	1	75	c.32G>A	c.(31-33)cGg>cAg	p.R11Q	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000480628.1_Intron|UGT1A6_ENST00000373424.1_Intron	NM_007120.2	NP_009051.1														autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	26		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;3.49e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000504)|Lung(119;0.0026)|LUSC - Lung squamous cell carcinoma(224;0.00624)		CCCCTGCCGCGGCTGGCCACA	0.627											OREG0003834	type=REGULATORY REGION|Gene=UGT1A4|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	234627498	G	A	234627498	3	1	562	1	0	0	0	0	1	0	0	0	17049	1116	39	1	34	1	UGT1A4	2	234627498	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	14327750	234627498	8571875	16	48202											
IQCF1	132141	broad.mit.edu	37	chr3	51929217	51929217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcttggacagtatcagccGccaccagcactgaatgatgc	12	8	9	12	1	2	2	1	2	1	0	2	3	2	3	3	1	3	2	3	1	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:51929217G>A	ENST00000310914.5	-	4	369	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W		NM_152397.2	NP_689610.2	Q8N6M8	IQCF1_HUMAN	IQ motif containing F1	103										central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		AGTATCAGCCGCCACCAGCAC	0.637													A	51929217	G	A	51929217	3	1	562	1	0	0	0	0	1	0	0	0	7865	1086	38	1	314	1	IQCF1	3	51929217	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		51929217	146093213	17	48203											
ST3GAL6	10402	broad.mit.edu	37	chr3	98503881	98503881	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgactcctatgatgtaataaTaaggtaaatatattttctat	15	16	5	5	1	1	1	0	1	1	0	2	2	2	1	1	1	0	2	1	1	9	10			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:98503881T>A	ENST00000394162.1	+	7	895	c.428T>A	c.(427-429)aTa>aAa	p.I143K	ST3GAL6_ENST00000462152.1_3'UTR|ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000483910.1_Missense_Mutation_p.I143K	NM_001271145.1|NM_006100.3	NP_001258074.1|NP_006091.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6	143					amino sugar metabolic process|glycolipid metabolic process|protein glycosylation|protein lipoylation	integral to Golgi membrane	sialyltransferase activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						GATGTAATAATAAGGTAAATA	0.348													A	98503881	T	A	98503881	3	1	562	1	0	0	0	0	1	0	0	0	15315	1406	49	5	446	5	ST3GAL6	3	98503881	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	46574664	98503881	99518549	18	48204											
TRIM42	287015	broad.mit.edu	37	chr3	140401985	140401985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctcactcttcagcgccatCgccaagttcaaagcaggtcc	9	8	8	16	2	4	0	3	0	1	0	6	0	5	0	4	1	2	2	4	1	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr3:140401985C>T	ENST00000286349.3	+	2	1214	c.1023C>T	c.(1021-1023)atC>atT	p.I341I		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	341						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						TCAGCGCCATCGCCAAGTTCA	0.542													T	140401985	C	T	140401985	2	4	562	1	0	0	0	0	0	0	0	1	16618	874	31	1		1	TRIM42	3	140401985	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	41898104	140401985	57620445	19	48205											
PCDH7	5099	broad.mit.edu	37	chr4	30725552	30725552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccacgactctggtgcaCgtgtttgtcaatgaaagtgt	9	12	10	10	2	2	1	1	1	1	0	3	2	3	1	2	1	1	2	2	1	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr4:30725552C>A	ENST00000361762.2	+	1	3516	c.2508C>A	c.(2506-2508)caC>caA	p.H836Q	PCDH7_ENST00000543491.1_Missense_Mutation_p.H836Q	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	836	Cadherin 7.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						CTCTGGTGCACGTGTTTGTCA	0.493													A	30725552	C	A	30725552	3	1	562	1	0	0	0	0	1	0	0	0	11592	535	19	4	2510	4	PCDH7	4	30725552	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		30725552	160428724	20	48206											
SPEF2	79925	broad.mit.edu	37	chr5	35697831	35697831	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggtgcaaaatcagaacagTtgctgaagaaaggaaagagc	17	7	12	5	0	1	4	1	1	0	3	1	5	1	5	0	2	4	3	0	2	6	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:35697831T>C	ENST00000440995.2	+	15	2062	c.2062T>C	c.(2062-2064)Ttg>Ctg	p.L688L	SPEF2_ENST00000356031.3_Silent_p.L693L|CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Silent_p.L688L			Q9C093	SPEF2_HUMAN	sperm flagellar 2	693					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)			ATCAGAACAGTTGCTGAAGAA	0.353													C	35697831	T	C	35697831	2	2	562	1	0	0	0	0	0	0	0	1	15131	1722	60	3		3	SPEF2	5	35697831	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08		35697831	145217429	21	48207											
PPIP5K2	23262	broad.mit.edu	37	chr5	102513667	102513667	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catctggctatggatatagaCcagcttccagagaggtaatg	12	10	11	8	0	1	2	0	0	1	2	2	4	2	3	2	3	1	3	2	3	4	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:102513667C>G	ENST00000321521.9	+	23	3313	c.2740C>G	c.(2740-2742)Cca>Gca	p.P914A	PPIP5K2_ENST00000358359.3_Missense_Mutation_p.P914A|PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.P914A			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	914					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TGGATATAGACCAGCTTCCAG	0.378													G	102513667	C	G	102513667	3	3	562	1	0	0	0	0	1	0	0	0	12415	507	18	4	2826	4	PPIP5K2	5	102513667	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	66815836	102513667	78401593	22	48208											
APBB3	10307	broad.mit.edu	37	chr5	139941733	139941733	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggatgtgcaccagaggcTggcagtggatcagactgtgg	9	7	16	9	1	1	2	1	0	0	2	1	4	1	4	1	5	1	3	1	5	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:139941733T>A	ENST00000357560.4	-	6	1021	c.578A>T	c.(577-579)cAg>cTg	p.Q193L	APBB3_ENST00000358580.5_Missense_Mutation_p.Q193L|APBB3_ENST00000511201.2_Missense_Mutation_p.Q193L|APBB3_ENST00000412920.3_Missense_Mutation_p.Q193L|APBB3_ENST00000354402.5_Missense_Mutation_p.Q193L|APBB3_ENST00000508496.2_5'UTR|APBB3_ENST00000356738.2_Missense_Mutation_p.Q193L	NM_006051.3|NM_133173.2	NP_006042.3|NP_573419.2	O95704	APBB3_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 3	193	PID 1.					actin cytoskeleton|cytoplasm				endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	11			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCAGAGGCTGGCAGTGGAT	0.602													A	139941733	T	A	139941733	3	1	562	1	0	0	0	0	1	0	0	0	764	1580	55	5	931	5	APBB3	5	139941733	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	37428066	139941733	40973527	23	48209											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869027	140869027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctctgaggagaatgggcgcTatttttccctgagcttgatg	7	13	13	8	1	1	4	0	3	1	1	2	5	2	4	1	2	1	3	1	2	2	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:140869027T>C	ENST00000252087.1	+	1	220	c.220T>C	c.(220-222)Tat>Cat	p.Y74H	PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		74	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GAATGGGCGCTATTTTTCCCT	0.562													C	140869027	T	C	140869027	3	2	562	1	0	0	0	0	1	0	0	0	11647	1522	53	3	222	3	PCDHGC5	5	140869027	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	927294	140869027	40046233	24	48210											
CD74	972	broad.mit.edu	37	chr5	149782733	149782733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttggggacctccgtgccGttggggaagacacaccagca	8	7	15	11	2	0	1	0	0	0	1	1	3	1	3	4	4	2	3	4	4	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:149782733G>A	ENST00000009530.7	-	7	769	c.768C>T	c.(766-768)aaC>aaT	p.N256N	CD74_ENST00000524315.1_Intron|CD74_ENST00000353334.6_Intron|CD74_ENST00000377795.3_Intron			P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	256	Thyroglobulin type-1.				antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCTCCGTGCCGTTGGGGAAGA	0.597			T	ROS1	NSCLC								A	149782733	G	A	149782733	2	1	562	1	0	0	0	0	0	0	0	1	3065	1136	40	1		1	CD74	5	149782733	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8913706	149782733	31132527	25	48211											
HAVCR1	26762	broad.mit.edu	37	chr5	156476111	156476111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttattgctccctgcagtgtcGtagggtgggtttctgctggc	3	15	14	9	1	1	0	0	0	1	0	3	0	2	0	1	3	3	5	1	3	2	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:156476111G>A	ENST00000339252.3	-	4	1251	c.719C>T	c.(718-720)aCg>aTg	p.T240M	HAVCR1_ENST00000522693.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000544197.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000523175.1_Missense_Mutation_p.T240M|HAVCR1_ENST00000425854.1_Missense_Mutation_p.T240M	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	235					interspecies interaction between organisms	integral to membrane	receptor activity			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGCAGTGTCGTAGGGTGGGT	0.483													A	156476111	G	A	156476111	3	1	562	1	0	0	0	0	1	0	0	0	7028	1145	40	1	395	1	HAVCR1	5	156476111	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6693378	156476111	24439149	26	48212											
PWWP2A	114825	broad.mit.edu	37	chr5	159546021	159546022	+	Frame_Shift_Ins	INS	-	-	G																															cctcgcgctcctcgggagccINSgggggctgctccggcggcga																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr5:159546021_159546022insG	ENST00000456329.3	-	1	408_409	c.374_375insC	c.(373-375)ccgfs	p.P125fs	PWWP2A_ENST00000523662.1_Frame_Shift_Ins_p.P125fs|PWWP2A_ENST00000307063.7_Frame_Shift_Ins_p.P125fs	NM_052927.2	NP_443159.1	Q96N64	PWP2A_HUMAN	PWWP domain containing 2A	125	Pro-rich.									kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	5	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CCTCGGGAGCCGGGGGCTGCTC	0.748													G	159546022	-	G	159546021	7	5	562	1	0	1	1	0	0	0	0	0	12933	639	23	0	2042	0	PWWP2A	5	159546021	Frame_Shift_Ins	INS	-	TCGA-HT-7860-01A-11D-2395-08	3069910	159546021	21369239	27	48213											
TFAP2D	83741	broad.mit.edu	37	chr6	50683145	50683145	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttattaacctgcacaatgCgcgggcgctcaagtcgtcct	8	11	9	13	4	1	0	1	0	0	0	3	0	2	0	2	1	3	2	2	1	4	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr6:50683145C>A	ENST00000008391.3	+	2	584	c.356C>A	c.(355-357)gCg>gAg	p.A119E		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	119							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					CTGCACAATGCGCGGGCGCTC	0.622													A	50683145	C	A	50683145	3	1	562	1	0	0	0	0	1	0	0	0	15890	768	27	4	362	4	TFAP2D	6	50683145	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		50683145	120431922	28	48214											
MACC1	346389	broad.mit.edu	37	chr7	20198442	20198442	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatagcctggcagattcgaGagtctttttaggtttggggt	9	14	13	5	1	1	2	0	0	1	2	2	3	1	2	1	4	1	2	1	4	3	6	rs149661432	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:20198442G>T	ENST00000400331.5	-	5	1850	c.1542C>A	c.(1540-1542)ctC>ctA	p.L514L	MACC1_ENST00000332878.4_Silent_p.L514L|MACC1_ENST00000589011.1_Silent_p.L514L	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	514					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						GCAGATTCGAGAGTCTTTTTA	0.393													T	20198442	G	T	20198442	2	4	562	1	0	0	0	0	0	0	0	1	9214	929	33	4		4	MACC1	7	20198442	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		20198442	138940221	29	48215											
KEL	3792	broad.mit.edu	37	chr7	142658923	142658923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattccacctgcctggctgcGttccctcggctcttcctcac	3	12	7	19	2	2	0	1	0	1	0	6	0	5	0	5	2	2	3	5	2	0	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:142658923G>A	ENST00000355265.2	-	2	514	c.40C>T	c.(40-42)Cgc>Tgc	p.R14C	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	14					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					GCCTGGCTGCGTTCCCTCGGC	0.542													A	142658923	G	A	142658923	3	1	562	1	0	0	0	0	1	0	0	0	8200	1145	40	1	2230	1	KEL	7	142658923	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	122460481	142658923	16479740	30	48216											
NOBOX	135935	broad.mit.edu	37	chr7	144096940	144096940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcgccacttggcccggCgattctggaaccacacctat	7	12	8	14	3	1	0	0	0	1	0	2	2	1	1	4	3	1	0	4	3	2	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr7:144096940C>T	ENST00000467773.1	-	6	1063	c.1064G>A	c.(1063-1065)cGc>cAc	p.R355H	NOBOX_ENST00000483238.1_Missense_Mutation_p.R323H|NOBOX_ENST00000223140.5_Missense_Mutation_p.R238H	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	355			R -> H (in POF5).		cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					CTTGGCCCGGCGATTCTGGAA	0.542													T	144096940	C	T	144096940	3	4	562	1	0	0	0	0	1	0	0	0	10588	768	27	1	1031	1	NOBOX	7	144096940	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1438017	144096940	15041723	31	48217											
MSR1	4481	broad.mit.edu	37	chr8	16026364	16026364	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcaattcttcgtttccCacttcaggagttgagctgta	8	14	9	10	1	2	2	1	2	1	0	4	3	3	3	1	1	2	5	1	1	2	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:16026364C>T	ENST00000350896.3	-	4	430	c.233G>A	c.(232-234)tGg>tAg	p.W78*	MSR1_ENST00000536385.1_Intron|MSR1_ENST00000445506.2_Nonsense_Mutation_p.W96*|MSR1_ENST00000381998.4_Nonsense_Mutation_p.W78*|MSR1_ENST00000262101.5_Nonsense_Mutation_p.W78*|MSR1_ENST00000355282.2_Nonsense_Mutation_p.W78*	NM_138715.2|NM_138716.2	NP_619729.1|NP_619730.1	P21757	MSRE_HUMAN	macrophage scavenger receptor 1	78	Spacer (Probable).				cholesterol transport|plasma lipoprotein particle clearance|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis	collagen|integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|protein binding|scavenger receptor activity			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		CTTCGTTTCCCACTTCAGGAG	0.388													T	16026364	C	T	16026364	4	4	562	1	0	0	0	0	0	1	0	0	9962	595	21	2	1198	2	MSR1	8	16026364	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		16026364	130337658	32	48218											
PSD3	23362	broad.mit.edu	37	chr8	18490301	18490301	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttctgagggagactttttTttctcttcatcatctctaaa	8	19	5	9	0	5	2	2	1	3	1	7	3	5	2	0	1	0	0	0	1	2	7	rs142080320		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:18490301T>C	ENST00000440756.2	-	11	2340	c.2238A>G	c.(2236-2238)aaA>aaG	p.K746K	PSD3_ENST00000286485.8_Silent_p.K210K|PSD3_ENST00000523619.1_Silent_p.K679K|PSD3_ENST00000327040.8_Silent_p.K744K|PSD3_ENST00000428502.2_Silent_p.K73K			Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	745					regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		GAGACTTTTTTTTCTCTTCAT	0.358													C	18490301	T	C	18490301	2	2	562	1	0	0	0	0	0	0	0	1	12733	1838	64	3		3	PSD3	8	18490301	Silent	SNP	T	TCGA-HT-7860-01A-11D-2395-08	2463937	18490301	127873721	33	48219											
TNFRSF10C	8794	broad.mit.edu	37	chr8	22969288	22969288	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagttccccagcagacagTggccccacagcaacagaggc	12	3	12	14	0	0	2	0	0	0	2	1	3	1	3	4	3	3	3	4	3	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:22969288T>C	ENST00000356864.3	+	2	648	c.116T>C	c.(115-117)gTg>gCg	p.V39A	TNFRSF10C_ENST00000520607.1_3'UTR|TNFRSF10C_ENST00000540813.1_Intron	NM_003841.3	NP_003832	O14798	TR10C_HUMAN	tumor necrosis factor receptor superfamily, member 10c, decoy without an intracellular domain	39					apoptosis	anchored to membrane|integral to plasma membrane	TRAIL binding|transmembrane receptor activity			endometrium(1)|large_intestine(6)|lung(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	15		Prostate(55;0.0421)|Breast(100;0.067)		Colorectal(74;0.0147)|COAD - Colon adenocarcinoma(73;0.0612)		CAGCAGACAGTGGCCCCACAG	0.507													C	22969288	T	C	22969288	3	2	562	1	0	0	0	0	1	0	0	0	16382	1696	59	3	122	3	TNFRSF10C	8	22969288	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	4478987	22969288	123394734	34	48220											
GPR124	25960	broad.mit.edu	37	chr8	37686441	37686441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcagcacagtgcagcCgggcgccttcctgggcctgg	6	7	13	15	2	2	0	2	0	0	0	3	0	3	0	4	3	3	2	4	3	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr8:37686441C>T	ENST00000315215.7	+	3	737	c.374C>T	c.(373-375)cCg>cTg	p.P125L	GPR124_ENST00000412232.2_Missense_Mutation_p.P125L			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	125					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			ACAGTGCAGCCGGGCGCCTTC	0.682													T	37686441	C	T	37686441	3	4	562	1	0	0	0	0	1	0	0	0	6692	652	23	1	363	1	GPR124	8	37686441	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	14717153	37686441	108677581	35	48221											
AIFM2	84883	broad.mit.edu	37	chr10	71883202	71883202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggttcttcaggtctaTccccactactagcccctgcc	6	12	6	17	0	4	0	1	0	3	0	5	0	5	0	5	2	3	1	5	2	3	5	rs140958169		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:71883202T>C	ENST00000307864.1	-	3	466	c.253A>G	c.(253-255)Ata>Gta	p.I85V	AIFM2_ENST00000373248.1_Missense_Mutation_p.I85V	NM_001198696.1|NM_032797.5	NP_001185625.1|NP_116186.1	Q9BRQ8	AIFM2_HUMAN	apoptosis-inducing factor, mitochondrion-associated, 2	85					apoptotic mitochondrial changes|chromosome condensation|induction of apoptosis	cytosol|integral to membrane|mitochondrial outer membrane	DNA binding|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|urinary_tract(2)	16						TTCAGGTCTATCCCCACTACT	0.597													C	71883202	T	C	71883202	3	2	562	1	0	0	0	0	1	0	0	0	427	1435	50	3	896	3	AIFM2	10	71883202	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		71883202	63651545	36	48222											
SFTPA1	653509	broad.mit.edu	37	chr10	81373779	81373779	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgaggggagcccgcaggtcgGggaaaagagcagtgtgtgga	10	4	20	7	3	0	1	0	0	0	1	1	5	0	4	1	6	2	2	1	6	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:81373779G>A	ENST00000398636.3	+	6	795	c.657G>A	c.(655-657)cgG>cgA	p.R219R	SFTPA1_ENST00000428376.2_Silent_p.R219R|SFTPA1_ENST00000372308.3_Silent_p.R219R|SFTPA1_ENST00000419470.2_Silent_p.R234R|SFTPA1_ENST00000372313.5_Silent_p.R160R	NM_001164644.1|NM_001164646.1|NM_005411.4	NP_001158116.1|NP_001158118.1|NP_005402.3	Q8IWL2	SFTA1_HUMAN	surfactant protein A1	219	C-type lectin.		R -> W (associated with susceptibility to idiopathic pulmonary fibrosis in smokers; allele 6A(4) and allele 6A(5); dbSNP:rs4253527).		cell junction assembly|respiratory gaseous exchange	collagen|extracellular space	lipid transporter activity|sugar binding			endometrium(1)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	all_cancers(46;0.197)|Breast(12;0.000326)|Prostate(51;0.00985)|all_epithelial(25;0.0149)		Epithelial(14;0.00957)|all cancers(16;0.0179)|Colorectal(32;0.229)			CCGCAGGTCGGGGAAAAGAGC	0.562													A	81373779	G	A	81373779	2	1	562	1	0	0	0	0	0	0	0	1	14282	1219	43	2		2	SFTPA1	10	81373779	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9490577	81373779	54160968	37	48223											
PTEN	5728	broad.mit.edu	37	chr10	89717727	89717727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagccgttacctgtgtgtgGtgatatcaaagtagagttct	9	14	11	7	1	3	2	2	1	1	1	3	2	3	2	2	1	2	3	2	1	4	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:89717727G>C	ENST00000371953.3	+	7	2109	c.752G>C	c.(751-753)gGt>gCt	p.G251A	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	251	C2 tensin-type.		G -> C (loss of phosphatase activity towards Ins(1,3,4,5)P4; retains ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G251D(2)|p.G165_*404del(1)|p.?(1)|p.G251V(1)|p.G251fs*6(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCTGTGTGTGGTGATATCAAA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89717727	G	C	89717727	3	2	562	1	0	0	0	0	1	0	0	0	12823	1261	44	4	778	4	PTEN	10	89717727	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8343948	89717727	45817020	38	48224											
PKD2L1	9033	broad.mit.edu	37	chr10	102057297	102057297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggtagtagccacctccGctgtagcttgtgagcctgcc	6	10	11	14	1	0	1	0	1	0	0	2	1	2	1	6	1	4	5	6	1	3	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr10:102057297G>A	ENST00000318222.3	-	5	1180	c.798C>T	c.(796-798)agC>agT	p.S266S	PKD2L1_ENST00000353274.3_Silent_p.S266S|PKD2L1_ENST00000338519.3_Intron	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	266					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		AGCCACCTCCGCTGTAGCTTG	0.627													A	102057297	G	A	102057297	2	1	562	1	0	0	0	0	0	0	0	1	12044	1078	38	1		1	PKD2L1	10	102057297	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	12339570	102057297	33477450	39	48225											
MUC6	4588	broad.mit.edu	37	chr11	1025338	1025338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctccccggtgaccgtgtaGtttctgtccgccagcaccac	5	10	9	17	3	1	1	0	1	1	0	4	1	4	1	7	1	1	3	7	1	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:1025338G>A	ENST00000421673.2	-	23	2879	c.2829C>T	c.(2827-2829)aaC>aaT	p.N943N		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	943	VWFD 3.				maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		TGACCGTGTAGTTTCTGTCCG	0.677													A	1025338	G	A	1025338	2	1	562	1	0	0	0	0	0	0	0	1	10056	1020	36	2		2	MUC6	11	1025338	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08		1025338	133981178	40	48226											
OR8J3	81168	broad.mit.edu	37	chr11	55904779	55904779	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccagcaggaggcagagcCgccgagacaccaccaccatg	13	1	11	16	2	0	2	0	0	0	2	0	4	0	3	6	2	2	2	6	2	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:55904779C>T	ENST00000301529.1	-	1	415	c.416G>A	c.(415-417)cGg>cAg	p.R139Q		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	139					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R139L(1)|p.R139Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					GAGGCAGAGCCGCCGAGACAC	0.473													T	55904779	C	T	55904779	3	4	562	1	0	0	0	0	1	0	0	0	11318	652	23	1	533	1	OR8J3	11	55904779	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	54879441	55904779	79101737	41	48227											
HSPA8	3312	broad.mit.edu	37	chr11	122928498	122928498	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccagagggaggagctcCaccaccaggaaatcccccag	13	2	10	16	0	0	1	0	0	0	1	2	4	2	4	7	3	1	1	7	3	1	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:122928498C>G	ENST00000534624.1	-	9	2161	c.1885G>C	c.(1885-1887)Gga>Cga	p.G629R	HSPA8_ENST00000532636.1_Missense_Mutation_p.G629R|HSPA8_ENST00000227378.3_Missense_Mutation_p.G629R|HSPA8_ENST00000526110.1_Missense_Mutation_p.G610R|HSPA8_ENST00000453788.2_Missense_Mutation_p.G476R|HSPA8_ENST00000534319.1_Missense_Mutation_p.G393R|HSPA8_ENST00000533540.1_Missense_Mutation_p.G483R	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	629					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		GGAGGAGCTCCACCACCAGGA	0.512													G	122928498	C	G	122928498	3	3	562	1	0	0	0	0	1	0	0	0	7473	603	21	4	59	4	HSPA8	11	122928498	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	67023719	122928498	12078018	42	48228											
OR10G4	390264	broad.mit.edu	37	chr11	123886716	123886716	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgccctcctggccacCggcacttggctcagtggctc	4	9	13	15	1	1	0	1	0	0	0	3	0	2	0	4	5	1	3	4	5	0	1	rs144654389	byFrequency	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr11:123886716C>T	ENST00000320891.4	+	1	435	c.435C>T	c.(433-435)acC>acT	p.T145T		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	145					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TCCTGGCCACCGGCACTTGGC	0.547													T	123886716	C	T	123886716	2	4	562	1	0	0	0	0	0	0	0	1	10977	639	23	1		1	OR10G4	11	123886716	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	958218	123886716	11119800	43	48229											
ATF7IP	55729	broad.mit.edu	37	chr12	14576907	14576907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctcgaaaaacgatgagaGtgagtgatcgtcagcaactt	14	8	12	7	3	1	3	1	3	0	1	3	6	1	3	0	1	3	2	0	1	3	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:14576907G>A	ENST00000544627.1	+	2	402	c.82G>A	c.(82-84)Gtg>Atg	p.V28M	ATF7IP_ENST00000536444.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000540793.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000543189.1_Missense_Mutation_p.V20M|ATF7IP_ENST00000261168.4_Missense_Mutation_p.V20M|ATF7IP_ENST00000541654.1_3'UTR			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	20					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						AACGATGAGAGTGAGTGATCG	0.358													A	14576907	G	A	14576907	3	1	562	1	0	0	0	0	1	0	0	0	1092	1029	36	2	60	2	ATF7IP	12	14576907	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		14576907	119274988	44	48230											
ARHGDIB	397	broad.mit.edu	37	chr12	15103604	15103604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttgctgtccagctcatcatCatcatcctcctccacatgtg	7	13	5	16	0	4	0	4	0	0	0	8	0	8	0	4	0	2	2	4	0	0	1	rs149654565		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:15103604C>T	ENST00000228945.4	-	2	187	c.43G>A	c.(43-45)Gat>Aat	p.D15N	ARHGDIB_ENST00000541546.1_Missense_Mutation_p.D15N|ARHGDIB_ENST00000541644.1_Missense_Mutation_p.D15N	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	15					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						AGCTCATCATCATCATCCTCC	0.438													T	15103604	C	T	15103604	3	4	562	1	0	0	0	0	1	0	0	0	894	826	29	2	582	2	ARHGDIB	12	15103604	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	526697	15103604	118748291	45	48231											
ABCC9	10060	broad.mit.edu	37	chr12	22001088	22001088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaaagatctaccttcGtcttcgtcctccatctgggc	11	11	7	12	2	3	2	0	0	3	2	7	2	5	2	3	1	1	0	3	1	5	3	rs2291550	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:22001088G>A	ENST00000261200.4	-	23	2861	c.2862C>T	c.(2860-2862)gaC>gaT	p.D954D	RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Silent_p.D918D|ABCC9_ENST00000261201.4_Silent_p.D954D	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	954					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATCTACCTTCGTCTTCGTCCT	0.433													A	22001088	G	A	22001088	2	1	562	1	0	0	0	0	0	0	0	1	59	1136	40	1		1	ABCC9	12	22001088	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	6897484	22001088	111850807	46	48232											
ACVRL1	94	broad.mit.edu	37	chr12	52309035	52309035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcctcagacatgacctccCgcaactcgagcacgcagctg	9	6	9	17	4	1	2	1	1	0	1	4	3	2	2	3	0	3	4	3	0	1	0	rs148640185		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52309035C>T	ENST00000550683.1	+	6	942	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	ACVRL1_ENST00000419526.2_Missense_Mutation_p.R93C|ACVRL1_ENST00000388922.4_Missense_Mutation_p.R267C	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	267	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CATGACCTCCCGCAACTCGAG	0.612													T	52309035	C	T	52309035	3	4	562	1	0	0	0	0	1	0	0	0	225	652	23	1	821	1	ACVRL1	12	52309035	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	30307947	52309035	81542860	47	48233											
KRT83	3889	broad.mit.edu	37	chr12	52714809	52714809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgcttcacgcactgcGcgttggggtctatctccagg	4	11	11	15	3	3	0	1	0	2	0	5	0	4	0	3	3	2	3	3	3	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:52714809G>A	ENST00000293670.3	-	1	373	c.311C>T	c.(310-312)gCg>gTg	p.A104V		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	104	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CACGCACTGCGCGTTGGGGTC	0.627													A	52714809	G	A	52714809	3	1	562	1	0	0	0	0	1	0	0	0	8555	1087	38	1	1206	1	KRT83	12	52714809	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	405774	52714809	81137086	48	48234											
COPZ1	22818	broad.mit.edu	37	chr12	54734289	54734289	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctggtttaccagtggtgAtgggaggcttcaggactgaa	9	12	14	6	0	2	2	1	2	1	0	2	4	2	4	1	5	1	2	1	5	3	4	rs11170877	by1000genomes	TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:54734289A>G	ENST00000549043.1	+	2	96	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	COPZ1_ENST00000553231.1_Intron|COPZ1_ENST00000455864.2_Intron|COPZ1_ENST00000552362.1_Intron|COPZ1_ENST00000551779.1_Intron|COPZ1_ENST00000548281.1_Intron|COPZ1_ENST00000416254.2_Intron|COPZ1_ENST00000552218.1_Intron|COPZ1_ENST00000549116.1_Intron|COPZ1_ENST00000262061.2_Intron|RP11-968A15.8_ENST00000553061.1_RNA|COPZ1_ENST00000548753.1_Intron			P61923	COPZ1_HUMAN	coatomer protein complex, subunit zeta 1	0					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol				kidney(1)|lung(4)	5						ACCAGTGGTGATGGGAGGCTT	0.488													G	54734289	A	G	54734289	1	3	562	1	0	0	0	0	0	0	0	0	3772	348	12	3		3	COPZ1	12	54734289	Translation_Start_Site	SNP	A	TCGA-HT-7860-01A-11D-2395-08	2019480	54734289	79117606	49	48235											
SART3	9733	broad.mit.edu	37	chr12	108919286	108919286	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtccttcacggtgccaTgagccttacagatttcttct	7	14	9	11	1	3	3	1	2	2	1	4	3	4	3	3	2	3	0	3	2	1	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:108919286T>C	ENST00000228284.3	-	17	2705	c.2471A>G	c.(2470-2472)cAt>cGt	p.H824R	SART3_ENST00000431469.2_Missense_Mutation_p.H788R|FICD_ENST00000546448.1_Intron	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	824	RRM 2.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						CACGGTGCCATGAGCCTTACA	0.507									Porokeratosis				C	108919286	T	C	108919286	3	2	562	1	0	0	0	0	1	0	0	0	13939	1464	51	3	432	3	SART3	12	108919286	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	54184997	108919286	24932609	50	48236											
PTPN11	5781	broad.mit.edu	37	chr12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatggaggggagaaatttgCcactttggctgagttggtcc	8	12	15	6	0	0	2	0	1	0	1	1	4	1	3	2	5	1	3	2	5	2	4	rs121918454		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112888199	C	A	112888199	3	1	562	1	0	0	0	0	1	0	0	0	12866	739	26	4	225	4	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3968913	112888199	20963696	51	48237											
MORN3	283385	broad.mit.edu	37	chr12	122091089	122091089	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagccttcaaacagctggccGtggtccagatggaagaaacg	13	6	12	10	2	1	2	1	0	0	2	2	3	2	3	3	3	4	1	3	3	4	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr12:122091089G>A	ENST00000355329.3	-	4	710	c.540C>T	c.(538-540)caC>caT	p.H180H		NM_173855.4	NP_776254.3	Q6PF18	MORN3_HUMAN	MORN repeat containing 3	180										breast(2)|large_intestine(1)|lung(4)|skin(1)|stomach(1)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000409)|Epithelial(86;0.00145)		ACAGCTGGCCGTGGTCCAGAT	0.607													A	122091089	G	A	122091089	2	1	562	1	0	0	0	0	0	0	0	1	9785	1136	40	1		1	MORN3	12	122091089	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	9202890	122091089	11760806	52	48238											
FANCM	57697	broad.mit.edu	37	chr14	45623200	45623200	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttatgaattattgcagcaAatgggaatgagatcattata	15	13	10	3	0	1	2	1	2	0	1	1	4	1	3	0	2	2	3	0	2	7	5			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr14:45623200A>G	ENST00000267430.5	+	6	1213	c.1128A>G	c.(1126-1128)caA>caG	p.Q376Q	FANCM_ENST00000542564.2_Silent_p.Q350Q|FANCM_ENST00000556036.1_Silent_p.Q376Q	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	376					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						TATTGCAGCAAATGGGAATGA	0.284								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	45623200	A	G	45623200	2	3	562	1	0	0	0	0	0	0	0	1	5720	11	1	3		3	FANCM	14	45623200	Silent	SNP	A	TCGA-HT-7860-01A-11D-2395-08		45623200	61726340	53	48239											
HEXA	3073	broad.mit.edu	37	chr15	72638890	72638891	+	Frame_Shift_Del	DEL	TA	TA	-																															tcaaatgccaggggttccacTatgtagaaatccttccagtc																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:72638890_72638891delTA	ENST00000268097.5	-	11	1810_1811	c.1307_1308delTA	c.(1306-1308)atafs	p.I436fs	RP11-106M3.3_ENST00000570175.1_RNA|HEXA_ENST00000429918.2_Frame_Shift_Del_p.I263fs|HEXA_ENST00000457859.2_Intron|HEXA_ENST00000567159.1_Frame_Shift_Del_p.I436fs|RP11-106M3.2_ENST00000379915.4_RNA|HEXA_ENST00000566304.1_Frame_Shift_Del_p.I447fs	NM_000520.4	NP_000511.2	P06865	HEXA_HUMAN	hexosaminidase A (alpha polypeptide)	436			I -> V (in dbSNP:rs1800431).		cell death	lysosome	beta-N-acetylhexosaminidase activity|cation binding|protein heterodimerization activity			breast(2)|cervix(1)|endometrium(3)|kidney(3)|lung(7)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	24						GGGGTTCCACTATGTAGAAATC	0.579													-	72638891	TA	-	72638890	7	5	562	1	0	1	0	1	0	0	0	0	7128	1512	53	0	297	0	HEXA	15	72638890	Frame_Shift_Del	DEL	TA	TCGA-HT-7860-01A-11D-2395-08		72638890	29892502	54	48240											
HCN4	10021	broad.mit.edu	37	chr15	73616057	73616057	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtggtgggtgagggctaTggccacagaagtggtggcag	8	7	21	5	0	0	2	0	1	0	1	0	2	0	2	1	7	0	2	1	7	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:73616057T>C	ENST00000261917.3	-	8	3370	c.2377A>G	c.(2377-2379)Ata>Gta	p.I793V		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	793					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		GTGAGGGCTATGGCCACAGAA	0.697													C	73616057	T	C	73616057	3	2	562	1	0	0	0	0	1	0	0	0	7054	1464	51	3	1238	3	HCN4	15	73616057	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	977167	73616057	28915335	55	48241											
ADAMTS17	170691	broad.mit.edu	37	chr15	100657167	100657167	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggcagggcaggttctcgcaGaccgcatgttctacactggc	7	8	14	12	2	2	1	0	0	2	1	3	1	2	1	1	4	1	6	1	4	1	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr15:100657167G>A	ENST00000268070.4	-	13	1878	c.1773C>T	c.(1771-1773)gtC>gtT	p.V591V		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	591	TSP type-1 1.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		GGTTCTCGCAGACCGCATGTT	0.627													A	100657167	G	A	100657167	2	1	562	1	0	0	0	0	0	0	0	1	262	929	33	2		2	ADAMTS17	15	100657167	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	27041110	100657167	1874225	56	48242											
TNRC6A	27327	broad.mit.edu	37	chr16	24817937	24817937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaaatgatgcaacaatctCgtcaacttgatccaaacctg	15	9	6	11	1	2	2	1	2	1	0	4	2	3	2	2	0	5	2	2	0	5	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:24817937C>T	ENST00000395799.3	+	17	4501	c.4372C>T	c.(4372-4374)Cgt>Tgt	p.R1458C	CTD-2515A14.1_ENST00000568895.1_RNA|TNRC6A_ENST00000315183.7_Missense_Mutation_p.R1409C	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1458					negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		GCAACAATCTCGTCAACTTGA	0.443													T	24817937	C	T	24817937	3	4	562	1	0	0	0	0	1	0	0	0	16440	884	31	1	4438	1	TNRC6A	16	24817937	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08		24817937	65536816	57	48243											
KCTD19	146212	broad.mit.edu	37	chr16	67327473	67327473	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggtcctctgcttgctcCagtccttcagggtgccagct	3	13	10	15	0	2	0	1	0	1	0	5	0	5	0	5	2	4	3	5	2	0	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:67327473C>T	ENST00000304372.5	-	12	2247	c.2192G>A	c.(2191-2193)tGg>tAg	p.W731*		NM_001100915.1	NP_001094385.1	Q17RG1	KCD19_HUMAN	potassium channel tetramerization domain containing 19	731						voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)	23		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0311)|Epithelial(162;0.0906)		CTGCTTGCTCCAGTCCTTCAG	0.547													T	67327473	C	T	67327473	4	4	562	1	0	0	0	0	0	1	0	0	8164	595	21	2	608	2	KCTD19	16	67327473	Nonsense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	42509536	67327473	23027280	58	48244											
PKD1L2	114780	broad.mit.edu	37	chr16	81155301	81155301	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaggctctgcagggccgCgtgcgtaaaaaaggtgcctg	8	6	17	10	4	1	0	0	0	1	0	1	1	1	1	2	4	3	3	2	4	3	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81155301C>T	ENST00000533478.1	-	0	4556				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCAGGGCCGCGTGCGTAAAA	0.597													T	81155301	C	T	81155301	1	4	562	0	1	0	0	0	0	0	0	0	12042	768	27	1		1	PKD1L2	16	81155301	RNA	SNP	C	TCGA-HT-7860-01A-11D-2395-08	13827828	81155301	9199452	59	48245											
PKD1L2	114780	broad.mit.edu	37	chr16	81171126	81171126	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccagtgcaaagaaagcagCgaatcccagcacctgaaaaa	18	3	9	11	1	0	2	0	1	0	1	1	4	1	2	3	0	4	3	3	0	5	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr16:81171126C>T	ENST00000533478.1	-	0	3690				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAAAGCAGCGAATCCCAGC	0.577													T	81171126	C	T	81171126	1	4	562	0	1	0	0	0	0	0	0	0	12042	768	27	1		1	PKD1L2	16	81171126	RNA	SNP	C	TCGA-HT-7860-01A-11D-2395-08	15825	81171126	9183627	60	48246											
MYH8	4626	broad.mit.edu	37	chr17	10318643	10318643	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcattcctcacagttttgGcattgccaaaggcctccagt	8	13	8	12	0	2	0	2	0	0	0	4	0	4	0	4	2	1	2	4	2	1	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:10318643G>C	ENST00000403437.2	-	8	801	c.707C>G	c.(706-708)gCc>gGc	p.A236G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	236	Myosin head-like.				muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CACAGTTTTGGCATTGCCAAA	0.483									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				C	10318643	G	C	10318643	3	2	562	1	0	0	0	0	1	0	0	0	10117	1203	42	4	5238	4	MYH8	17	10318643	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		10318643	70876567	61	48247											
GRAP	10750	broad.mit.edu	37	chr17	18927576	18927576	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatctgccgcttcttggcGatggtggtggtgcggtagaa	7	11	16	7	3	2	2	0	0	2	2	2	3	2	2	1	5	2	2	1	5	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:18927576G>A	ENST00000284154.5	-	4	1130	c.420C>T	c.(418-420)atC>atT	p.I140I	GRAP_ENST00000573099.1_Intron|GRAP_ENST00000395635.1_Silent_p.I111I	NM_006613.3	NP_006604.1	Q13588	GRAP_HUMAN	GRB2-related adaptor protein	140	SH2.				cell-cell signaling|Ras protein signal transduction	cytoplasm	SH3/SH2 adaptor activity			large_intestine(1)|urinary_tract(1)	2	all_cancers(12;0.0183)					GCTTCTTGGCGATGGTGGTGG	0.622													A	18927576	G	A	18927576	2	1	562	1	0	0	0	0	0	0	0	1	6808	1048	37	1		1	GRAP	17	18927576	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	8608933	18927576	62267634	62	48248											
NF1	4763	broad.mit.edu	37	chr17	29483060	29483064	+	Frame_Shift_Del	DEL	GGAAT	GGAAT	-																															gtcagtactgagcacaacaaGgaatgtctaatcaatatttc																										TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29483060_29483064delGGAAT	ENST00000358273.4	+	2	503_507	c.120_124delGGAAT	c.(118-126)aaggaatgtfs	p.EC41fs	NF1_ENST00000431387.4_Frame_Shift_Del_p.EC41fs|NF1_ENST00000356175.3_Frame_Shift_Del_p.EC41fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	41					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGCACAACAAGGAATGTCTAATCAA	0.332			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29483064	GGAAT	-	29483060	7	5	562	1	0	1	0	1	0	0	0	0	10432	991	35	0	126	0	NF1	17	29483060	Frame_Shift_Del	DEL	GGAAT	TCGA-HT-7860-01A-11D-2395-08	10555484	29483060	51712150	63	48249											
NF1	4763	broad.mit.edu	37	chr17	29664446	29664446	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcattacccaaattttactTgctgtttggcattagcaaag	11	15	6	9	0	1	0	1	0	0	0	1	0	1	0	1	1	4	4	1	1	5	6			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664446T>A	ENST00000358273.4	+	43	6871	c.6488T>A	c.(6487-6489)tTg>tAg	p.L2163*	NF1_ENST00000356175.3_Nonsense_Mutation_p.L2142*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2163					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AAATTTTACTTGCTGTTTGGC	0.423			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29664446	T	A	29664446	4	1	562	1	0	0	0	0	0	1	0	0	10432	1821	63	5	6719	5	NF1	17	29664446	Nonsense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	181386	29664446	51530764	64	48250			1	69		2	2	21	N	T_G	5.685193e-05
NF1	4763	broad.mit.edu	37	chr17	29664466	29664466	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgtttggcattagcaaaGtcaagtcagctgctgtcatt	9	14	10	8	0	3	0	3	0	0	0	3	0	3	0	0	1	4	6	0	1	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr17:29664466G>C	ENST00000358273.4	+	43	6891	c.6508G>C	c.(6508-6510)Gtc>Ctc	p.V2170L	NF1_ENST00000356175.3_Missense_Mutation_p.V2149L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2170					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CATTAGCAAAGTCAAGTCAGC	0.443			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			C	29664466	G	C	29664466	3	2	562	1	0	0	0	0	1	0	0	0	10432	1029	36	4	6739	4	NF1	17	29664466	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	20	29664466	51530744	65	48251			1	69		2	2	21	N	T_G	5.685193e-05
TNFRSF11A	8792	broad.mit.edu	37	chr18	60052048	60052048	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgatgaacttcaagggCgacatcatcgtggtctacgt	10	10	12	9	3	3	2	2	2	1	0	4	3	3	2	0	3	2	0	0	3	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr18:60052048C>T	ENST00000586569.1	+	10	1670	c.1632C>T	c.(1630-1632)ggC>ggT	p.G544G	TNFRSF11A_ENST00000269485.7_Silent_p.G227G	NM_001270949.1|NM_003839.3	NP_001257878.1|NP_003830.1	Q9Y6Q6	TNR11_HUMAN	tumor necrosis factor receptor superfamily, member 11a, NFKB activator	544					adaptive immune response|cell-cell signaling|circadian temperature homeostasis|monocyte chemotaxis|osteoclast differentiation|positive regulation of cell proliferation|positive regulation of ERK1 and ERK2 cascade via TNFSF11-mediated signaling|positive regulation of fever generation by positive regulation of prostaglandin secretion|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|response to interleukin-1|response to lipopolysaccharide	external side of plasma membrane|integral to membrane	metal ion binding|tumor necrosis factor receptor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(13)|skin(3)|upper_aerodigestive_tract(1)	29		Colorectal(73;0.188)				ACTTCAAGGGCGACATCATCG	0.652													T	60052048	C	T	60052048	2	4	562	1	0	0	0	0	0	0	0	1	16384	755	27	1		1	TNFRSF11A	18	60052048	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08		60052048	18025200	66	48252											
LMNB2	84823	broad.mit.edu	37	chr19	2433894	2433894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcgatgctgacgctacccGaggccgaggcctgctgggcc	5	6	14	16	4	0	1	0	1	0	0	1	4	0	1	5	3	3	3	5	3	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:2433894G>A	ENST00000325327.3	-	8	1474	c.1412C>T	c.(1411-1413)tCg>tTg	p.S471L	LMNB2_ENST00000582871.1_Missense_Mutation_p.S451L			Q03252	LMNB2_HUMAN	lamin B2	451	Tail.					nuclear inner membrane	structural molecule activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		Hepatocellular(1079;0.137)		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)		GACGCTACCCGAGGCCGAGGC	0.667													A	2433894	G	A	2433894	3	1	562	1	0	0	0	0	1	0	0	0	8911	1059	37	1	470	1	LMNB2	19	2433894	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2433894	56695089	67	48253											
KHSRP	8570	broad.mit.edu	37	chr19	6416895	6416895	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggacctgggggaccactcTgcaagacaagaggaggagga	13	3	17	8	0	1	2	0	0	1	2	1	8	1	7	2	6	1	1	2	6	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:6416895T>G	ENST00000398148.3	-	13	1275		c.e13-2			NM_003685.2	NP_003676.2	Q92945	FUBP2_HUMAN	KH-type splicing regulatory protein						mRNA processing|mRNA transport|regulation of transcription, DNA-dependent|RNA splicing, via transesterification reactions|transcription, DNA-dependent	cytosol|nucleus	DNA binding|protein binding|RNA binding			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|liver(1)|lung(6)|skin(1)|soft_tissue(1)	17						GGGACCACTCTGCAAGACAAG	0.687													G	6416895	T	G	6416895	5	3	562	1	0	0	0	0	0	0	1	0	8209	1594	55	5	986	5	KHSRP	19	6416895	Splice_Site	SNP	T	TCGA-HT-7860-01A-11D-2395-08	3983001	6416895	52712088	68	48254											
STXBP2	6813	broad.mit.edu	37	chr19	7705819	7705819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgttcagtgagctaggccGctctcgtctggcaaaggtgg	6	10	14	11	2	3	1	1	1	2	0	4	1	3	1	2	4	1	4	2	4	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:7705819G>A	ENST00000441779.2	+	6	429	c.392G>A	c.(391-393)cGc>cAc	p.R131H	STXBP2_ENST00000221283.5_Missense_Mutation_p.R120H|CTD-3214H19.4_ENST00000595866.1_3'UTR|STXBP2_ENST00000414284.2_Missense_Mutation_p.R117H	NM_001272034.1	NP_001258963.1	Q15833	STXB2_HUMAN	syntaxin binding protein 2	120					leukocyte mediated cytotoxicity|neutrophil degranulation|protein transport|regulation of mast cell degranulation|vesicle docking involved in exocytosis	azurophil granule|cytolytic granule|cytosol|specific granule|tertiary granule	syntaxin-3 binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	23						GAGCTAGGCCGCTCTCGTCTG	0.662													A	7705819	G	A	7705819	3	1	562	1	0	0	0	0	1	0	0	0	15449	1087	38	1	381	1	STXBP2	19	7705819	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1288924	7705819	51423164	69	48255											
MUC16	94025	broad.mit.edu	37	chr19	9063480	9063480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagatgctctctggtaatGtggaggaaacaggagaaggt	14	8	15	4	0	1	2	0	0	1	2	2	6	1	4	0	5	2	2	0	5	4	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9063480G>A	ENST00000397910.4	-	3	24169	c.23966C>T	c.(23965-23967)aCa>aTa	p.T7989I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7991	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7989R(2)|p.T3622R(1)		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						CTCTGGTAATGTGGAGGAAAC	0.468													A	9063480	G	A	9063480	3	1	562	1	0	0	0	0	1	0	0	0	10049	1377	48	2	19885	2	MUC16	19	9063480	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	1357661	9063480	50065503	70	48256											
MUC16	94025	broad.mit.edu	37	chr19	9065959	9065959	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccttgccagtggtcaGtctctcatctgaagtgtggc	5	13	13	10	0	4	1	2	1	2	0	6	1	5	1	2	3	1	0	2	3	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:9065959G>T	ENST00000397910.4	-	3	21690	c.21487C>A	c.(21487-21489)Ctg>Atg	p.L7163M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7165	Ser-rich.|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						CCAGTGGTCAGTCTCTCATCT	0.512													T	9065959	G	T	9065959	3	4	562	1	0	0	0	0	1	0	0	0	10049	1020	36	4	22364	4	MUC16	19	9065959	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	2479	9065959	50063024	71	48257											
AP1M2	10053	broad.mit.edu	37	chr19	10687903	10687903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttaatactccaaatcacgaCgtttctctccggcacatact	11	12	4	14	3	2	0	1	0	1	0	5	1	4	0	2	1	2	2	2	1	4	4			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:10687903C>T	ENST00000590923.1	-	9	1107	c.1024G>A	c.(1024-1026)Gtc>Atc	p.V342I	AP1M2_ENST00000250244.6_Missense_Mutation_p.V340I			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	340	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CAAATCACGACGTTTCTCTCC	0.597													T	10687903	C	T	10687903	3	4	562	1	0	0	0	0	1	0	0	0	737	536	19	1	269	1	AP1M2	19	10687903	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1621944	10687903	48441080	72	48258											
MAST1	22983	broad.mit.edu	37	chr19	12977541	12977541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggagcccgtggaaatcCgccagttctcttcctgctct	7	10	11	13	2	2	0	0	0	2	0	5	3	4	3	4	3	2	2	4	3	1	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:12977541C>T	ENST00000251472.4	+	18	2143	c.2104C>T	c.(2104-2106)Cgc>Tgc	p.R702C		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	702	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						CGTGGAAATCCGCCAGTTCTC	0.622													T	12977541	C	T	12977541	3	4	562	1	0	0	0	0	1	0	0	0	9399	652	23	1	2174	1	MAST1	19	12977541	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	2289638	12977541	46151442	73	48259											
MED26	9441	broad.mit.edu	37	chr19	16687579	16687579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagccctgccttgcagccCggccccgccagccgctggtg	4	5	13	19	3	0	0	0	0	0	0	0	1	0	0	7	2	5	2	7	2	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:16687579C>T	ENST00000263390.3	-	3	1324	c.1062G>A	c.(1060-1062)ccG>ccA	p.P354P	CTD-3222D19.2_ENST00000409035.1_Silent_p.P362P	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	354					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|RNA polymerase II transcription cofactor activity|transcription coactivator activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						CCTTGCAGCCCGGCCCCGCCA	0.706													T	16687579	C	T	16687579	2	4	562	1	0	0	0	0	0	0	0	1	9519	639	23	1		1	MED26	19	16687579	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3710038	16687579	42441404	74	48260											
ACTN4	81	broad.mit.edu	37	chr19	39212280	39212280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcgagagcgacctggctgCgcaccaggaccgcgtggagc	7	5	15	14	5	0	1	0	0	0	1	1	5	0	3	3	3	3	2	3	3	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:39212280C>T	ENST00000252699.2	+	12	1470	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	ACTN4_ENST00000424234.2_Intron|ACTN4_ENST00000390009.3_Missense_Mutation_p.A246V	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	465					platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GACCTGGCTGCGCACCAGGAC	0.617													T	39212280	C	T	39212280	3	4	562	1	0	0	0	0	1	0	0	0	207	768	27	1	1440	1	ACTN4	19	39212280	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	22524701	39212280	19916703	75	48261											
IRGC	56269	broad.mit.edu	37	chr19	44222962	44222962	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggccgaggaccctggcgcGgctctcacgggcgtcatgga	6	5	17	13	5	2	0	2	0	1	0	3	4	2	2	2	6	0	1	2	6	0	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:44222962G>A	ENST00000244314.5	+	2	451	c.252G>A	c.(250-252)gcG>gcA	p.A84A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	84						membrane	GTP binding|hydrolase activity, acting on acid anhydrides	p.A84A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				ACCCTGGCGCGGCTCTCACGG	0.682													A	44222962	G	A	44222962	2	1	562	1	0	0	0	0	0	0	0	1	7896	1103	39	1		1	IRGC	19	44222962	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5010682	44222962	14906021	76	48262											
RUVBL2	10856	broad.mit.edu	37	chr19	49518835	49518835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctccccctccagggtacaGaagtgcaggtggatgacatc	9	7	11	14	0	0	2	0	1	0	1	3	3	2	3	4	3	2	2	4	3	2	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:49518835G>A	ENST00000413176.2	+	14	2271	c.1123G>A	c.(1123-1125)Gaa>Aaa	p.E375K	RUVBL2_ENST00000601968.1_Silent_p.Q331Q|RUVBL2_ENST00000595090.1_Missense_Mutation_p.E420K			Q9Y230	RUVB2_HUMAN	RuvB-like AAA ATPase 2	420					cellular response to UV|DNA recombination|DNA repair|histone H2A acetylation|histone H4 acetylation|protein folding|regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex|membrane|MLL1 complex|NuA4 histone acetyltransferase complex|nuclear matrix	ATP binding|ATP-dependent DNA helicase activity|damaged DNA binding|identical protein binding|unfolded protein binding			large_intestine(1)|upper_aerodigestive_tract(1)	2		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000449)|OV - Ovarian serous cystadenocarcinoma(262;0.000555)|GBM - Glioblastoma multiforme(486;0.00585)|Epithelial(262;0.047)		CCAGGGTACAGAAGTGCAGGT	0.602													A	49518835	G	A	49518835	3	1	562	1	0	0	0	0	1	0	0	0	13844	943	33	2	1312	2	RUVBL2	19	49518835	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	5295873	49518835	9610148	77	48263											
MYBPC2	4606	broad.mit.edu	37	chr19	50939931	50939931	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggggaccgtgggtattacCgcctcgaggtcaaagccaag	9	7	15	10	3	1	0	1	0	0	0	2	2	1	1	4	4	2	1	4	4	4	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:50939931C>T	ENST00000357701.5	+	5	454	c.403C>T	c.(403-405)Cgc>Tgc	p.R135C		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	135	Ig-like C2-type 1.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		TGGGTATTACCGCCTCGAGGT	0.612													T	50939931	C	T	50939931	3	4	562	1	0	0	0	0	1	0	0	0	10088	652	23	1	421	1	MYBPC2	19	50939931	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1421096	50939931	8189052	78	48264											
LILRA6	79168	broad.mit.edu	37	chr19	54746595	54746595	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggctgtgagggcgggCgtcatggcgtctccttccgg	4	8	18	11	4	2	1	1	1	1	0	4	1	3	1	2	5	1	2	2	5	0	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:54746595C>T	ENST00000440558.2	-	1	54	c.6G>A	c.(4-6)acG>acA	p.T2T	LILRA6_ENST00000419410.2_Silent_p.T2T|LILRA6_ENST00000391735.3_Silent_p.T2T|LILRA6_ENST00000270464.5_Silent_p.T2T|LILRA6_ENST00000396365.2_Silent_p.T2T|LILRA6_ENST00000245621.5_Silent_p.T2T|LILRB3_ENST00000407860.2_Silent_p.T2T					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGAGGGCGGGCGTCATGGCGT	0.647													T	54746595	C	T	54746595	2	4	562	1	0	0	0	0	0	0	0	1	8849	755	27	1		1	LILRA6	19	54746595	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	3806664	54746595	4382388	79	48265											
NLRP5	126206	broad.mit.edu	37	chr19	56539531	56539531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggcctcgtgagcgaagaCgtaaggaggccactggaggt	9	8	16	8	3	0	2	0	1	0	1	1	5	0	4	2	5	1	1	2	5	2	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr19:56539531C>T	ENST00000390649.3	+	7	1932	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	644						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TGAGCGAAGACGTAAGGAGGC	0.552													T	56539531	C	T	56539531	2	4	562	1	0	0	0	0	0	0	0	1	10556	535	19	1		1	NLRP5	19	56539531	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	1792936	56539531	2589452	80	48266											
PFDN4	5203	broad.mit.edu	37	chr20	52831957	52831957	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattctcaagaagaaacgcAagaaatgttagaagaagcaa	20	6	8	7	1	1	5	1	0	1	5	2	5	1	5	1	0	2	3	1	0	9	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:52831957A>C	ENST00000371419.2	+	3	505	c.251A>C	c.(250-252)cAa>cCa	p.Q84P	PFDN4_ENST00000487129.1_3'UTR	NM_002623.3	NP_002614.2	Q9NQP4	PFD4_HUMAN	prefoldin subunit 4	84					'de novo' posttranslational protein folding	prefoldin complex	chaperone binding|unfolded protein binding			endometrium(1)|kidney(2)	3	Lung NSC(4;1.08e-05)|all_lung(4;2.7e-05)		Colorectal(105;0.124)|STAD - Stomach adenocarcinoma(23;0.206)			GAAGAAACGCAAGAAATGTTA	0.313													C	52831957	A	C	52831957	3	2	562	1	0	0	0	0	1	0	0	0	11834	130	5	5	261	5	PFDN4	20	52831957	Missense_Mutation	SNP	A	TCGA-HT-7860-01A-11D-2395-08		52831957	10193563	81	48267											
HRH3	11255	broad.mit.edu	37	chr20	60793682	60793682	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccagcggcctgtcagcacGtagggtacatacagtgggat	9	8	14	10	2	1	0	1	0	0	0	2	1	2	1	2	3	4	3	2	3	3	3			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr20:60793682G>A	ENST00000340177.5	-	2	566	c.282C>T	c.(280-282)taC>taT	p.Y94Y	HRH3_ENST00000317393.6_Silent_p.Y94Y	NM_007232.2	NP_009163.2	Q9Y5N1	HRH3_HUMAN	histamine receptor H3	94					G-protein signaling, coupled to cyclic nucleotide second messenger|neurotransmitter secretion	integral to plasma membrane	histamine receptor activity			breast(1)|endometrium(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	9	Breast(26;7.76e-09)		BRCA - Breast invasive adenocarcinoma(19;7.08e-07)		Histamine Phosphate(DB00667)	CTGTCAGCACGTAGGGTACAT	0.632													A	60793682	G	A	60793682	2	1	562	1	0	0	0	0	0	0	0	1	7412	1140	40	1		1	HRH3	20	60793682	Silent	SNP	G	TCGA-HT-7860-01A-11D-2395-08	7961725	60793682	2231838	82	48268											
TMPRSS3	64699	broad.mit.edu	37	chr21	43810090	43810090	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgatcccaatgacgatgaTtggaaaaaacttcaatggca	17	9	8	7	1	1	3	1	3	0	0	2	5	2	4	1	2	1	1	1	2	6	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chr21:43810090T>C	ENST00000291532.3	-	3	1106	c.151A>G	c.(151-153)Atc>Gtc	p.I51V	TMPRSS3_ENST00000433957.2_Missense_Mutation_p.I51V|TMPRSS3_ENST00000380399.1_Missense_Mutation_p.I135V|TMPRSS3_ENST00000398397.3_Missense_Mutation_p.I51V|TMPRSS3_ENST00000398405.1_Missense_Mutation_p.I49V	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3	51				LKFFPIIVI -> FEVFSQSSSL (in Ref. 1; AAG37012).	cellular sodium ion homeostasis|proteolysis	endoplasmic reticulum membrane|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity|sodium channel regulator activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ATGACGATGATTGGAAAAAAC	0.433													C	43810090	T	C	43810090	3	2	562	1	0	0	0	0	1	0	0	0	16348	1493	52	3	1340	3	TMPRSS3	21	43810090	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08		43810090	4319805	83	48269											
ARSD	414	broad.mit.edu	37	chrX	2836028	2836028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgccggtgactgctctcGcggagacagagaagaaaccg	11	5	13	12	4	1	4	0	1	1	3	2	6	1	4	3	2	3	1	3	2	2	0			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:2836028G>A	ENST00000381154.1	-	5	755	c.680C>T	c.(679-681)gCg>gTg	p.A227V	ARSD_ENST00000217890.6_5'UTR	NM_001669.3	NP_001660.2	P51689	ARSD_HUMAN	arylsulfatase D	227						lysosome	arylsulfatase activity|metal ion binding			large_intestine(3)|lung(3)	6		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GACTGCTCTCGCGGAGACAGA	0.622													A	2836028	G	A	2836028	3	1	562	1	0	0	0	0	1	0	0	0	994	1087	38	1	1278	1	ARSD	23	2836028	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08		2836028	152434532	84	48270											
MAGEB2	4113	broad.mit.edu	37	chrX	30237647	30237647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttgaaagatgaagagaaagCcggagtctgagccagagttg	14	8	14	5	1	1	6	0	3	1	3	1	8	1	7	2	1	2	1	2	1	3	2			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:30237647C>T	ENST00000378988.4	+	2	1051	c.950C>T	c.(949-951)gCc>gTc	p.A317V		NM_002364.4	NP_002355.2	O15479	MAGB2_HUMAN	melanoma antigen family B, 2	317							protein binding			breast(1)|large_intestine(3)|lung(17)|ovary(1)|skin(1)	23						GAAGAGAAAGCCGGAGTCTGA	0.498													T	30237647	C	T	30237647	3	4	562	1	0	0	0	0	1	0	0	0	9251	739	26	2	952	2	MAGEB2	23	30237647	Missense_Mutation	SNP	C	TCGA-HT-7860-01A-11D-2395-08	27401619	30237647	125032913	85	48271											
MED14	9282	broad.mit.edu	37	chrX	40518771	40518771	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttttagctgaagcgtttggTtggttttgggactaagagct	7	16	13	5	1	0	2	0	1	0	1	0	3	0	3	0	3	3	5	0	3	3	7			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:40518771T>C	ENST00000324817.1	-	27	3891	c.3773A>G	c.(3772-3774)aAc>aGc	p.N1258S		NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	1258					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AAGCGTTTGGTTGGTTTTGGG	0.398													C	40518771	T	C	40518771	3	2	562	1	0	0	0	0	1	0	0	0	9507	1725	60	3	611	3	MED14	23	40518771	Missense_Mutation	SNP	T	TCGA-HT-7860-01A-11D-2395-08	10281124	40518771	114751789	86	48272											
DDX26B	203522	broad.mit.edu	37	chrX	134715064	134715064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatttaccatcaaggaagccGcaaggtaggtataaacagga	17	7	10	7	1	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	9	5	rs143980255		TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:134715064G>A	ENST00000370752.4	+	16	2807	c.2473G>A	c.(2473-2475)Gca>Aca	p.A825T	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	825										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CAAGGAAGCCGCAAGGTAGGT	0.383													A	134715064	G	A	134715064	3	1	562	1	0	0	0	0	1	0	0	0	4387	1087	38	1	2535	1	DDX26B	23	134715064	Missense_Mutation	SNP	G	TCGA-HT-7860-01A-11D-2395-08	94196293	134715064	20555496	87	48273											
AVPR2	554	broad.mit.edu	37	chrX	153172155	153172155	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaccaccgccagctcCtccctggccaaggacacttc	7	7	7	20	1	0	0	0	0	0	0	4	1	3	1	7	2	2	2	7	2	1	1			TCGA-HT-7860-01A-11D-2395-08	TCGA-HT-7860-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d9a21c24-8e23-47d9-addd-e601b3f2e2c9	b10e61aa-2481-454d-bcfd-308c8fbc82bc	g.chrX:153172155C>T	ENST00000358927.2	+	4	1298	c.1089C>T	c.(1087-1089)tcC>tcT	p.S363S	AVPR2_ENST00000337474.5_Silent_p.S363S|AVPR2_ENST00000370049.1_3'UTR			P30518	V2R_HUMAN	arginine vasopressin receptor 2	363					activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCGCCAGCTCCTCCCTGGCCA	0.642													T	153172155	C	T	153172155	2	4	562	1	0	0	0	0	0	0	0	1	1238	668	24	2		2	AVPR2	23	153172155	Silent	SNP	C	TCGA-HT-7860-01A-11D-2395-08	18457091	153172155	2098405	88	48274											
KLHDC7A	127707	broad.mit.edu	37	chr1	18809173	18809173	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgctacaacccgctcacGgggatctggagcgaggtgtg	7	9	14	11	3	3	0	1	0	2	0	3	3	3	2	1	4	4	2	1	4	2	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:18809173G>A	ENST00000400664.1	+	1	1750	c.1698G>A	c.(1696-1698)acG>acA	p.T566T		NM_152375.2	NP_689588.2	Q5VTJ3	KLD7A_HUMAN	kelch domain containing 7A	566						integral to membrane				endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22		Colorectal(325;3.46e-05)|all_lung(284;0.000152)|Lung NSC(340;0.000185)|Breast(348;0.00046)|Renal(390;0.000518)|Ovarian(437;0.0014)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;1.41e-05)|Kidney(64;0.00017)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		ACCCGCTCACGGGGATCTGGA	0.667													A	18809173	G	A	18809173	2	1	563	1	0	0	0	0	0	0	0	1	8418	1103	39	1		1	KLHDC7A	1	18809173	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		18809173	230441448	1	48275											
SLC9A1	6548	broad.mit.edu	37	chr1	27440680	27440680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggaaggggggtgtctcGcctacacccttgatcaggcc	7	8	14	12	1	2	1	1	1	1	0	3	2	2	2	3	5	2	1	3	5	2	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:27440680G>A	ENST00000263980.3	-	2	1025	c.450C>T	c.(448-450)ggC>ggT	p.G150G	SLC9A1_ENST00000545949.1_Intron|SLC9A1_ENST00000374086.3_Silent_p.G150G	NM_003047.4	NP_003038.2	P19634	SL9A1_HUMAN	solute carrier family 9, subfamily A (NHE1, cation proton antiporter 1), member 1	150					regulation of pH	integral to membrane	sodium:hydrogen antiporter activity	p.G150G(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27				UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;2.19e-50)|OV - Ovarian serous cystadenocarcinoma(117;1.8e-29)|Colorectal(126;7.61e-09)|COAD - Colon adenocarcinoma(152;9.32e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000521)|KIRC - Kidney renal clear cell carcinoma(1967;0.00079)|STAD - Stomach adenocarcinoma(196;0.00125)|READ - Rectum adenocarcinoma(331;0.046)	Amiloride(DB00594)	GGGGTGTCTCGCCTACACCCT	0.617													A	27440680	G	A	27440680	2	1	563	1	0	0	0	0	0	0	0	1	14803	1074	38	1		1	SLC9A1	1	27440680	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08	8631507	27440680	221809941	2	48276											
CYP4B1	1580	broad.mit.edu	37	chr1	47279204	47279204	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtcctttgacatcttctgCgatgtgggtcacatggcgct	7	13	11	10	2	3	1	1	1	2	0	4	2	4	1	1	2	1	1	1	2	1	2	rs147120348		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:47279204C>T	ENST00000271153.4	+	5	582	c.546C>T	c.(544-546)tgC>tgT	p.C182C	CYP4B1_ENST00000371919.4_Silent_p.C167C|CYP4B1_ENST00000371923.4_Silent_p.C182C|CYP4B1_ENST00000452782.2_Silent_p.C19C			P13584	CP4B1_HUMAN	cytochrome P450, family 4, subfamily B, polypeptide 1	182					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(2)|breast(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	36	Acute lymphoblastic leukemia(166;0.155)					ACATCTTCTGCGATGTGGGTC	0.582													T	47279204	C	T	47279204	2	4	563	1	0	0	0	0	0	0	0	1	4218	776	27	1		1	CYP4B1	1	47279204	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	19838524	47279204	201971417	3	48277											
LPHN2	23266	broad.mit.edu	37	chr1	82434955	82434955	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggctatctgcatcttcaccTtctgctttttccgtggccta	4	17	7	13	1	4	0	1	0	3	0	5	0	5	0	3	2	2	3	3	2	2	6			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:82434955T>C	ENST00000370728.1	+	17	3250	c.2605T>C	c.(2605-2607)Ttc>Ctc	p.F869L	LPHN2_ENST00000319517.6_Missense_Mutation_p.F856L|LPHN2_ENST00000335786.5_Missense_Mutation_p.F869L|LPHN2_ENST00000359929.3_Missense_Mutation_p.F856L|LPHN2_ENST00000370727.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370717.2_Missense_Mutation_p.F869L|LPHN2_ENST00000370725.1_Missense_Mutation_p.F869L|LPHN2_ENST00000271029.4_Missense_Mutation_p.F869L|LPHN2_ENST00000370723.1_Missense_Mutation_p.F856L|LPHN2_ENST00000394879.1_Missense_Mutation_p.F856L|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000370713.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370730.1_Missense_Mutation_p.F869L|LPHN2_ENST00000370715.1_Missense_Mutation_p.F856L|LPHN2_ENST00000370721.1_Missense_Mutation_p.F794L			O95490	LPHN2_HUMAN	latrophilin 2	869					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		CATCTTCACCTTCTGCTTTTT	0.393													C	82434955	T	C	82434955	3	2	563	1	0	0	0	0	1	0	0	0	8986	1609	56	3	2612	3	LPHN2	1	82434955	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	35155751	82434955	166815666	4	48278											
ETV3	2117	broad.mit.edu	37	chr1	157105467	157105467	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggagcctggggatgacTctgttttgtaggcccagtca	6	10	15	10	1	2	1	1	1	1	0	2	3	2	3	3	4	1	2	3	4	1	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:157105467T>A	ENST00000368192.4	-	3	144	c.80A>T	c.(79-81)gAg>gTg	p.E27V	ETV3_ENST00000460850.1_5'UTR|ETV3_ENST00000326786.4_Missense_Mutation_p.E27V	NM_001145312.1	NP_001138784.1	P41162	ETV3_HUMAN	ets variant 3	27							sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|prostate(2)	9	Hepatocellular(266;0.158)	Prostate(1639;0.174)				TGGGGATGACTCTGTTTTGTA	0.527													A	157105467	T	A	157105467	3	1	563	1	0	0	0	0	1	0	0	0	5320	1551	54	5	1502	5	ETV3	1	157105467	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08	74670512	157105467	92145154	5	48279											
SIPA1L2	57568	broad.mit.edu	37	chr1	232538163	232538163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaggtcggtctggagttgtCgaagaattaattccagctga	11	11	13	6	2	1	2	0	1	1	1	4	5	2	3	1	3	1	2	1	3	4	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr1:232538163C>T	ENST00000366630.1	-	21	5355	c.4997G>A	c.(4996-4998)cGa>cAa	p.R1666Q	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.R1666Q|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.R722Q			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1666					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTGGAGTTGTCGAAGAATTAA	0.393													T	232538163	C	T	232538163	3	4	563	1	0	0	0	0	1	0	0	0	14424	884	31	1	179	1	SIPA1L2	1	232538163	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	75432696	232538163	16712458	6	48280											
TANC1	85461	broad.mit.edu	37	chr2	160050870	160050870	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agtctcaccttggccacgagGaagttgtcactctgctcctg	7	11	10	13	1	3	0	2	0	2	0	5	2	4	1	3	2	1	2	3	2	1	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:160050870G>A	ENST00000263635.6	+	17	3082	c.2845G>A	c.(2845-2847)Gaa>Aaa	p.E949K	TANC1_ENST00000454300.1_Missense_Mutation_p.E843K	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	949						cell junction|postsynaptic density|postsynaptic membrane	binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGGCCACGAGGAAGTTGTCAC	0.552													A	160050870	G	A	160050870	3	1	563	1	0	0	0	0	1	0	0	0	15641	1175	41	2	2903	2	TANC1	2	160050870	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08		160050870	83148503	7	48281											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	563	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	49062242	209113112	34086261	8	48282											
FEV	54738	broad.mit.edu	37	chr2	219846970	219846970	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgccacagctggatctGtccgctgcctgtggggaggg	7	8	15	11	1	1	0	0	0	1	0	2	2	2	2	3	4	4	2	3	4	1	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:219846970G>C	ENST00000295727.1	-	3	717	c.136C>G	c.(136-138)Cag>Gag	p.Q46E		NM_017521.2	NP_059991.1	Q99581	FEV_HUMAN	FEV (ETS oncogene family)	46					cell differentiation|nervous system development|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity		EWSR1/FEV(11)|FUS/FEV(2)	large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4		Renal(207;0.0474)		Epithelial(149;9.77e-07)|all cancers(144;0.000167)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCTGGATCTGTCCGCTGCCT	0.697			T	"EWSR1,  FUS"	Ewing sarcoma								C	219846970	G	C	219846970	3	2	563	1	0	0	0	0	1	0	0	0	5871	1386	48	4	584	4	FEV	2	219846970	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	10733858	219846970	23352403	9	48283											
TRIP12	9320	broad.mit.edu	37	chr2	230724205	230724206	+	Frame_Shift_Ins	INS	-	-	C																															ttgtctttcttaggcacctgINSccccgttttttgtctttctg																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:230724205_230724206insC	ENST00000283943.5	-	3	361_362	c.183_184insG	c.(181-186)gggcagfs	p.Q62fs	TRIP12_ENST00000409677.1_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000543084.1_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389044.4_Frame_Shift_Ins_p.Q104fs|TRIP12_ENST00000389045.3_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	62					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTAGGCACCTGCCCCGTTTTTT	0.45													C	230724206	-	C	230724205	7	5	563	1	0	1	1	0	0	0	0	0	16657	1328	46	0	5950	0	TRIP12	2	230724205	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08	10877235	230724205	12475168	10	48284											
SP140	11262	broad.mit.edu	37	chr2	231150502	231150502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggccaggtggtctccagtGaaaagaaggcgaacgtgaat	13	6	14	8	3	1	3	0	2	1	1	2	4	1	3	2	4	1	0	2	4	5	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr2:231150502G>A	ENST00000392045.3	+	17	1714	c.1600G>A	c.(1600-1602)Gaa>Aaa	p.E534K	SP140_ENST00000343805.6_Missense_Mutation_p.E474K|SP140_ENST00000486687.2_Missense_Mutation_p.E458K|SP140_ENST00000420434.3_Missense_Mutation_p.E507K|SP140_ENST00000350136.5_Missense_Mutation_p.E403K|SP140_ENST00000417495.3_Missense_Mutation_p.E420K	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	534					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GGTCTCCAGTGAAAAGAAGGC	0.458													A	231150502	G	A	231150502	3	1	563	1	0	0	0	0	1	0	0	0	15056	1291	45	2	1783	2	SP140	2	231150502	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	426297	231150502	12048871	11	48285											
CADM2	253559	broad.mit.edu	37	chr3	85984926	85984926	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttatttctagatacaccatCagttaagattataccatcga	14	15	4	8	1	2	2	1	0	1	2	3	3	2	2	2	0	2	1	2	0	6	8			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr3:85984926C>G	ENST00000383699.3	+	7	1337	c.710C>G	c.(709-711)tCa>tGa	p.S237*	CADM2_ENST00000405615.2_Nonsense_Mutation_p.S230*|CADM2_ENST00000407528.2_Nonsense_Mutation_p.S228*	NM_001167675.1|NM_001256504.1|NM_001256505.1	NP_001161147.1|NP_001243433.1|NP_001243434.1	Q8N3J6	CADM2_HUMAN	cell adhesion molecule 2	228	Ig-like C2-type 2.				adherens junction organization|cell junction assembly	integral to membrane|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(15)|ovary(1)|prostate(1)|skin(4)	38		Lung NSC(201;0.0148)		LUSC - Lung squamous cell carcinoma(29;0.000815)|Lung(72;0.00304)|BRCA - Breast invasive adenocarcinoma(55;0.156)|Epithelial(33;0.157)		GATACACCATCAGTTAAGATT	0.328													G	85984926	C	G	85984926	4	3	563	1	0	0	0	0	0	1	0	0	2593	838	29	4	776	4	CADM2	3	85984926	Nonsense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		85984926	112037504	12	48286											
C7	730	broad.mit.edu	37	chr5	40955639	40955639	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctgtgactaatcttcctcAagtcataaaacaaaaggtat	16	12	5	8	0	4	1	2	1	2	0	5	1	5	1	1	1	1	1	1	1	7	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:40955639A>G	ENST00000313164.9	+	10	1603	c.1244A>G	c.(1243-1245)cAa>cGa	p.Q415R		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	415	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex							Ovarian(839;0.0112)				AATCTTCCTCAAGTCATAAAA	0.413													G	40955639	A	G	40955639	3	3	563	1	0	0	0	0	1	0	0	0	2399	130	5	3	1282	3	C7	5	40955639	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		40955639	139959621	13	48287											
ALDH7A1	501	broad.mit.edu	37	chr5	125885898	125885898	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaagttgtacccaagccagcGaaagattctgcccagatctt	13	9	8	11	1	2	2	0	0	2	2	2	3	2	2	3	0	4	2	3	0	4	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr5:125885898G>A	ENST00000409134.3	-	15	1624	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	ALDH7A1_ENST00000553117.1_Missense_Mutation_p.R405C|ALDH7A1_ENST00000447989.2_Missense_Mutation_p.R432C	NM_001182.4|NM_001201377.1	NP_001173.2|NP_001188306.1	P49419	AL7A1_HUMAN	aldehyde dehydrogenase 7 family, member A1	469					cellular aldehyde metabolic process|lysine catabolic process|sensory perception of sound	cytosol|mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity|betaine-aldehyde dehydrogenase activity|L-aminoadipate-semialdehyde dehydrogenase activity			endometrium(1)|kidney(4)|large_intestine(4)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	16		all_cancers(142;0.24)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.0584)|Kidney(363;0.0934)	Epithelial(69;0.0417)|OV - Ovarian serous cystadenocarcinoma(64;0.068)|all cancers(49;0.109)	NADH(DB00157)|Pyridoxine(DB00165)	CCAAGCCAGCGAAAGATTCTG	0.348													A	125885898	G	A	125885898	3	1	563	1	0	0	0	0	1	0	0	0	504	1058	37	1	230	1	ALDH7A1	5	125885898	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	84930259	125885898	55029362	14	48288											
MRAP2	112609	broad.mit.edu	37	chr6	84799071	84799071	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgaacaggctcatgaaGtttgacatccccaactttgt	11	11	9	10	0	1	3	1	3	0	0	2	4	2	3	2	1	3	3	2	1	3	2			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr6:84799071G>A	ENST00000257776.4	+	4	624	c.489G>A	c.(487-489)aaG>aaA	p.K163K		NM_138409.2	NP_612418.2	Q96G30	MRAP2_HUMAN	melanocortin 2 receptor accessory protein 2	163					positive regulation of cAMP biosynthetic process|protein localization at cell surface	endoplasmic reticulum|plasma membrane	corticotropin hormone receptor binding|type 1 melanocortin receptor binding|type 3 melanocortin receptor binding|type 4 melanocortin receptor binding|type 5 melanocortin receptor binding			NS(1)|breast(1)|endometrium(1)|large_intestine(4)|lung(4)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	19						GGCTCATGAAGTTTGACATCC	0.493													A	84799071	G	A	84799071	2	1	563	1	0	0	0	0	0	0	0	1	9830	1020	36	2		2	MRAP2	6	84799071	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		84799071	86315996	15	48289											
ABCA13	154664	broad.mit.edu	37	chr7	48335325	48335325	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatatggtcctcgccgaAtcagctaaattgtgaaagtc	14	10	9	8	2	1	2	1	1	0	1	4	3	2	2	2	1	1	1	2	1	6	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr7:48335325A>C	ENST00000435803.1	+	21	9008	c.8984A>C	c.(8983-8985)aAt>aCt	p.N2995T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	2995					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TCCTCGCCGAATCAGCTAAAT	0.393													C	48335325	A	C	48335325	3	2	563	1	0	0	0	0	1	0	0	0	31	101	4	5	8895	5	ABCA13	7	48335325	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		48335325	110803338	16	48290											
TRPA1	8989	broad.mit.edu	37	chr8	72946552	72946552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagataaatacaactgtagaCctcaacaaagttttcaaaat	20	10	4	7	0	2	2	2	0	0	2	2	2	2	2	1	0	3	2	1	0	10	5			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:72946552C>A	ENST00000262209.4	-	22	2823	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	872						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	CAACTGTAGACCTCAACAAAG	0.294													A	72946552	C	A	72946552	3	1	563	1	0	0	0	0	1	0	0	0	16678	506	18	4	767	4	TRPA1	8	72946552	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		72946552	73417470	17	48291											
WWP1	11059	broad.mit.edu	37	chr8	87443690	87443690	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatcataacacaaaaacAacccagtgggaagatccaag	19	5	8	9	0	1	2	1	1	0	1	2	3	2	3	2	1	3	0	2	1	7	1			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr8:87443690A>C	ENST00000517970.1	+	13	1750	c.1443A>C	c.(1441-1443)acA>acC	p.T481T	WWP1_ENST00000265428.4_Silent_p.T481T|WWP1_ENST00000349423.2_Silent_p.T263T|WWP1_ENST00000341922.2_Silent_p.T351T	NM_007013.3	NP_008944.1	Q9H0M0	WWP1_HUMAN	WW domain containing E3 ubiquitin protein ligase 1	481	WW 3.				central nervous system development|entry of virus into host cell|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|signal transduction	cytoplasm|nucleus|plasma membrane|ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			endometrium(3)|kidney(2)|large_intestine(9)|liver(4)|lung(10)|prostate(2)|urinary_tract(1)	31						ACACAAAAACAACCCAGTGGG	0.348													C	87443690	A	C	87443690	2	2	563	1	0	0	0	0	0	0	0	1	17517	117	5	5		5	WWP1	8	87443690	Silent	SNP	A	TCGA-HT-7873-01B-11D-2395-08	14497138	87443690	58920332	18	48292											
A1CF	29974	broad.mit.edu	37	chr10	52596001	52596002	+	Frame_Shift_Ins	INS	-	-	T																															gatttcttctctctttttggINStttttgggatgcccccaaca																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr10:52596001_52596002insT	ENST00000374001.2	-	5	575_576	c.436_437insA	c.(436-438)accfs	p.T146fs	A1CF_ENST00000282641.2_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373993.1_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000373995.3_Frame_Shift_Ins_p.T154fs|A1CF_ENST00000395489.2_Frame_Shift_Ins_p.T139fs|A1CF_ENST00000373997.3_Frame_Shift_Ins_p.T146fs|A1CF_ENST00000395495.1_Frame_Shift_Ins_p.T146fs			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor		RRM 2.				cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						TCTCTTTTTGGTTTTTGGGATG	0.446													T	52596002	-	T	52596001	7	5	563	1	0	1	1	0	0	0	0	0	2	1261	44	0	1379	0	A1CF	10	52596001	Frame_Shift_Ins	INS	-	TCGA-HT-7873-01B-11D-2395-08		52596001	82938746	19	48293											
PAK1	5058	broad.mit.edu	37	chr11	77069990	77069992	+	In_Frame_Del	DEL	CAT	CAT	-																															aatcactggtggtggggtagCatcatcatcatcatcatcct																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr11:77069990_77069992delCAT	ENST00000356341.3	-	6	1079_1081	c.548_550delATG	c.(547-552)gatgct>gct	p.D183del	PAK1_ENST00000528203.1_In_Frame_Del_p.D85del|PAK1_ENST00000278568.4_In_Frame_Del_p.D183del|PAK1_ENST00000530617.1_In_Frame_Del_p.D183del|PAK1_ENST00000525542.1_5'UTR	NM_002576.4	NP_002567.3	Q13153	PAK1_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 1	183	Interaction with CRIPAK.				apoptosis|axon guidance|cytoskeleton organization|ER-nucleus signaling pathway|positive regulation of JUN kinase activity|positive regulation of peptidyl-serine phosphorylation|protein autophosphorylation|T cell costimulation|T cell receptor signaling pathway	cytosol|focal adhesion|Golgi apparatus	ATP binding|collagen binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(13)|skin(2)|stomach(1)	29	all_cancers(14;1.75e-18)					GGTGGGGTAGcatcatcatcatc	0.478													-	77069992	CAT	-	77069990	7	5	563	1	0	1	0	1	0	0	0	0	11475	710	25	0	1180	0	PAK1	11	77069990	In_Frame_Del	DEL	CAT	TCGA-HT-7873-01B-11D-2395-08		77069990	57936526	20	48294											
MAB21L1	4081	broad.mit.edu	37	chr13	36049234	36049234	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttcgggttggtcaggatctCtcttgccagtcgccacgttt	4	15	11	11	3	3	0	1	0	2	0	6	1	3	1	2	3	1	2	2	3	0	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr13:36049234C>G	ENST00000379919.4	-	1	1598	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	NBEA_ENST00000310336.4_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000540320.1_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	348					anatomical structure morphogenesis	nucleus				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GTCAGGATCTCTCTTGCCAGT	0.433													G	36049234	C	G	36049234	3	3	563	1	0	0	0	0	1	0	0	0	9212	922	32	4	41	4	MAB21L1	13	36049234	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		36049234	79120644	21	48295											
POTEG	404785	broad.mit.edu	37	chr14	19562088	19562088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatttaaatgcactggAtagatatggaaggtatagtt	16	12	10	3	0	0	1	0	0	0	1	0	3	0	3	0	3	2	4	0	3	8	7			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:19562088A>G	ENST00000409832.3	+	4	957	c.905A>G	c.(904-906)gAt>gGt	p.D302G		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	302										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						AATGCACTGGATAGATATGGA	0.328													G	19562088	A	G	19562088	3	3	563	1	0	0	0	0	1	0	0	0	12343	333	12	3	919	3	POTEG	14	19562088	Missense_Mutation	SNP	A	TCGA-HT-7873-01B-11D-2395-08		19562088	87787452	22	48296											
ADCY4	196883	broad.mit.edu	37	chr14	24787720	24787720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcaccttgatgacaccccGgctgtagcaggtgtagccca	8	10	10	13	1	1	2	1	2	0	0	1	2	1	2	4	2	2	4	4	2	2	4			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:24787720G>A	ENST00000310677.4	-	26	3249	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	ADCY4_ENST00000418030.2_Missense_Mutation_p.R1046W|ADCY4_ENST00000554068.2_Missense_Mutation_p.R1046W	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1046					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ATGACACCCCGGCTGTAGCAG	0.562													A	24787720	G	A	24787720	3	1	563	1	0	0	0	0	1	0	0	0	296	1115	39	1	101	1	ADCY4	14	24787720	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	5225632	24787720	82561820	23	48297											
ALKBH1	8846	broad.mit.edu	37	chr14	78161070	78161102	+	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-																															ttaacacttcattctgattgAcaagacttacctcaggaact																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr14:78161070_78161102delACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	ENST00000216489.3	-	3	449_471	c.434_456delAACAGAGCAAAGAGTTCCTGAGGTAAGTCTTGT	c.(433-456)gaacagagcaaagagttcctgagg>g	p.EQSKEFLR145del	ALKBH1_ENST00000554097.1_5'UTR	NM_006020.2	NP_006011.2	Q13686	ALKB1_HUMAN	alkB, alkylation repair homolog 1 (E. coli)	145					DNA dealkylation involved in DNA repair|DNA demethylation|oxidative demethylation|RNA repair	mitochondrion	DNA-(apurinic or apyrimidinic site) lyase activity|ferrous iron binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(2)|lung(4)|ovary(1)|prostate(1)|skin(1)	9			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		ATTCTGATTGACAAGACTTACCTCAGGAACTCTTTGCTCTGTTCCCACAGATC	0.403													-	78161102	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	-	78161070	8	5	563	1	0	1	0	1	0	0	1	0	526	290	10	0		0	ALKBH1	14	78161070	Splice_Site	DEL	ACAAGACTTACCTCAGGAACTCTTTGCTCTGTT	TCGA-HT-7873-01B-11D-2395-08	53373350	78161070	29188470	24	48298											
MYO9A	4649	broad.mit.edu	37	chr15	72172772	72172772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatagaatccaaagccacGttgctaatcttcacacttcg	12	11	6	12	2	2	1	1	0	1	1	4	1	3	1	2	0	3	3	2	0	4	5			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:72172772G>A	ENST00000356056.5	-	29	5998	c.5526C>T	c.(5524-5526)aaC>aaT	p.N1842N	MYO9A_ENST00000444904.1_Silent_p.N1823N|MYO9A_ENST00000424560.1_Silent_p.N1913N|MYO9A_ENST00000564571.1_Silent_p.N1842N	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1842	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CCAAAGCCACGTTGCTAATCT	0.438													A	72172772	G	A	72172772	2	1	563	1	0	0	0	0	0	0	0	1	10160	1136	40	1		1	MYO9A	15	72172772	Silent	SNP	G	TCGA-HT-7873-01B-11D-2395-08		72172772	30358620	25	48299											
ALDH1A3	220	broad.mit.edu	37	chr15	101425495	101425495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcaacaatgaatggcaCgaatccaagagtgggaaaaa	18	8	9	6	1	1	2	1	1	0	1	2	4	2	3	1	2	1	1	1	2	8	2	rs58142816	byFrequency	TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr15:101425495C>T	ENST00000329841.5	+	2	655	c.123C>T	c.(121-123)caC>caT	p.H41H	ALDH1A3_ENST00000346623.6_Silent_p.H41H|ALDH1A3_ENST00000560555.1_3'UTR|RP11-66B24.8_ENST00000558568.1_lincRNA	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	41					retinal metabolic process	cytoplasm	aldehyde dehydrogenase|protein homodimerization activity			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		NADH(DB00157)|Vitamin A(DB00162)	ATGAATGGCACGAATCCAAGA	0.348													T	101425495	C	T	101425495	2	4	563	1	0	0	0	0	0	0	0	1	492	535	19	1		1	ALDH1A3	15	101425495	Silent	SNP	C	TCGA-HT-7873-01B-11D-2395-08	29252723	101425495	1105897	26	48300											
SMG1	23049	broad.mit.edu	37	chr16	18937330	18937330	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgccgccgccgccgcTgctcagccgagaccccgggg	3	2	15	21	8	1	1	1	0	0	1	1	2	1	1	9	2	2	2	9	2	0	0			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:18937330T>C	ENST00000446231.2	-	1	446	c.34A>G	c.(34-36)Agc>Ggc	p.S12G	SMG1_ENST00000567737.1_5'UTR|SMG1_ENST00000389467.3_Missense_Mutation_p.S12G			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	12	Interaction with SMG8 and SMG9.				DNA repair|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|peptidyl-serine phosphorylation|phosphatidylinositol phosphorylation|protein autophosphorylation	cytoplasm|nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ccgccgccgctgcTCAGCCGA	0.736													C	18937330	T	C	18937330	3	2	563	1	0	0	0	0	1	0	0	0	14889	1580	55	3	11203	3	SMG1	16	18937330	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		18937330	71417423	27	48301											
NFAT5	10725	broad.mit.edu	37	chr16	69726213	69726213	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagcagcagttatcttcaGttttattttctgctccagat	9	16	6	10	0	3	1	1	0	2	1	4	1	4	1	1	0	3	5	1	0	2	6			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr16:69726213G>A	ENST00000349945.1	+	14	3755	c.2203G>A	c.(2203-2205)Gtt>Att	p.V735I	NFAT5_ENST00000393742.2_Missense_Mutation_p.V735I|NFAT5_ENST00000566899.1_Missense_Mutation_p.V735I|NFAT5_ENST00000432919.1_Missense_Mutation_p.V829I|NFAT5_ENST00000567239.1_Missense_Mutation_p.V828I|NFAT5_ENST00000354436.2_Missense_Mutation_p.V811I	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive	811					excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						GTTATCTTCAGTTTTATTTTC	0.448													A	69726213	G	A	69726213	3	1	563	1	0	0	0	0	1	0	0	0	10436	1029	36	2	2535	2	NFAT5	16	69726213	Missense_Mutation	SNP	G	TCGA-HT-7873-01B-11D-2395-08	50788883	69726213	20628540	28	48302											
TP53	7157	broad.mit.edu	37	chr17	7573996	7574003	+	Frame_Shift_Del	DEL	AGCTCTCG	AGCTCTCG	-																															tgagttccaaggcctcattcAgctctcggaacatctcgaag																								rs121912662		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:7573996_7574003delAGCTCTCG	ENST00000269305.4	-	10	1213_1220	c.1024_1031delCGAGAGCT	c.(1024-1032)cgagagctgfs	p.REL342fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Frame_Shift_Del_p.REL342fs|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.R342fs*3(9)|p.0?(8)|p.E343*(8)|p.R342P(3)|p.L344R(3)|p.L344fs*23(2)|p.R342Q(2)|p.L344P(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.E343fs*3(1)|p.I332fs*5(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)		GGCCTCATTCAGCTCTCGGAACATCTCG	0.562		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)			-	7574003	AGCTCTCG	-	7573996	7	5	563	1	0	1	0	1	0	0	0	0	16482	188	7	0	158	0	TP53	17	7573996	Frame_Shift_Del	DEL	AGCTCTCG	TCGA-HT-7873-01B-11D-2395-08		7573996	73621214	29	48303											
LPO	4025	broad.mit.edu	37	chr17	56342147	56342147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagaagtggataccccCatatcaaggctacagtgaat	14	8	9	10	0	1	2	1	1	0	1	1	3	1	3	2	2	3	2	2	2	6	3			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr17:56342147C>T	ENST00000262290.4	+	10	1647	c.1331C>T	c.(1330-1332)cCa>cTa	p.P444L	LPO_ENST00000421678.2_Missense_Mutation_p.P361L|LPO_ENST00000543544.1_Missense_Mutation_p.P385L|LPO_ENST00000582328.1_Missense_Mutation_p.P361L	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	444					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						TGGATACCCCCATATCAAGGC	0.478													T	56342147	C	T	56342147	3	4	563	1	0	0	0	0	1	0	0	0	8992	594	21	2	1365	2	LPO	17	56342147	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	48768151	56342147	24853063	30	48304											
PCSK4	54760	broad.mit.edu	37	chr19	1481915	1481915	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatggccgaggctgggcagCggtggtggggacaggcggca	6	4	21	10	3	0	0	0	0	0	0	0	2	0	1	2	9	1	3	2	9	0	0	rs145279692		TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:1481915C>T	ENST00000300954.5	-	15	2172	c.2111G>A	c.(2110-2112)cGc>cAc	p.R704H		NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	704					proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		GGCTGGGCAGCGGTGGTGGGG	0.711													T	1481915	C	T	1481915	3	4	563	1	0	0	0	0	1	0	0	0	11678	768	27	1	160	1	PCSK4	19	1481915	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		1481915	57647068	31	48305											
ZNF256	10172	broad.mit.edu	37	chr19	58453810	58453810	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgtaattgtttcctacaTgccccgtctgtatacagttt	9	17	6	9	1	1	0	0	0	1	0	2	0	2	0	3	0	3	4	3	0	5	8			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr19:58453810T>C	ENST00000282308.3	-	3	562	c.366A>G	c.(364-366)gcA>gcG	p.A122A	ZNF256_ENST00000598928.1_3'UTR	NM_005773.2	NP_005764.2	Q9Y2P7	ZN256_HUMAN	zinc finger protein 256	122					multicellular organismal development|negative regulation of transcription, DNA-dependent	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0155)		GTTTCCTACATGCCCCGTCTG	0.458													C	58453810	T	C	58453810	2	2	563	1	0	0	0	0	0	0	0	1	17900	1451	51	3		3	ZNF256	19	58453810	Silent	SNP	T	TCGA-HT-7873-01B-11D-2395-08	56971895	58453810	675173	32	48306											
SSTR4	6754	broad.mit.edu	37	chr20	23017075	23017075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcctctccgacaacttcCgccgattcttccagcgggtt	5	12	8	16	4	2	0	0	0	2	0	6	2	5	0	5	1	2	2	5	1	1	5			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr20:23017075C>T	ENST00000255008.3	+	1	1019	c.955C>T	c.(955-957)Cgc>Tgc	p.R319C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	319					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CGACAACTTCCGCCGATTCTT	0.587													T	23017075	C	T	23017075	3	4	563	1	0	0	0	0	1	0	0	0	15296	652	23	1	957	1	SSTR4	20	23017075	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08		23017075	40008445	33	48307											
POTEH	23784	broad.mit.edu	37	chr22	16279207	16279207	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactataccttccatatctaTccagtgcatttaaatttgct	12	16	3	10	0	1	0	0	0	1	0	3	0	3	0	3	0	4	2	3	0	7	8			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chr22:16279207T>C	ENST00000343518.6	-	4	1067	c.1016A>G	c.(1015-1017)gAt>gGt	p.D339G		NM_001136213.1	NP_001129685.1	Q6S545	POTEH_HUMAN	POTE ankyrin domain family, member H	339										NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|lung(20)|ovary(1)|skin(7)|urinary_tract(2)	37						TCCATATCTATCCAGTGCATT	0.318													C	16279207	T	C	16279207	3	2	563	1	0	0	0	0	1	0	0	0	12344	1435	50	3	649	3	POTEH	22	16279207	Missense_Mutation	SNP	T	TCGA-HT-7873-01B-11D-2395-08		16279207	35025359	34	48308											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Frame_Shift_Del	DEL	G	G	-																															ttgctgcttcttaggaagtcGatctcttaattccatgatgg																										TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:76938029delG	ENST00000373344.5	-	9	2933	c.2719delC	c.(2719-2721)cgafs	p.R907fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R869fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938029	G	-	76938029	7	5	563	1	0	1	0	1	0	0	0	0	1213	1066	37	0	4867	0	ATRX	23	76938029	Frame_Shift_Del	DEL	G	TCGA-HT-7873-01B-11D-2395-08		76938029	78332531	35	48309											
SPANXD	64648	broad.mit.edu	37	chrX	140785749	140785749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttcttttaaagttcctcCtgtagcgaaccactagtatg	10	15	7	9	1	1	0	0	0	1	0	3	1	3	0	3	0	2	4	3	0	6	7			TCGA-HT-7873-01B-11D-2395-08	TCGA-HT-7873-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc65ab63-a507-4dbf-becf-93fc7d1bea3d	b7ec26c5-3d2d-4164-9de2-7202c49e4429	g.chrX:140785749C>T	ENST00000370515.3	-	2	500	c.167G>A	c.(166-168)aGg>aAg	p.R56K		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					AAAGTTCCTCCTGTAGCGAAC	0.488													T	140785749	C	T	140785749	3	4	563	1	0	0	0	0	1	0	0	0	15084	681	24	2	130	2	SPANXD	23	140785749	Missense_Mutation	SNP	C	TCGA-HT-7873-01B-11D-2395-08	63847720	140785749	14484811	36	48310											
CLCA2	9635	broad.mit.edu	37	chr1	86919122	86919122	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcgaaagtggggctttagCcgagtcagctcaggaggctc	9	7	16	9	2	2	0	2	0	0	0	3	4	2	1	1	4	3	3	1	4	2	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr1:86919122C>T	ENST00000370565.4	+	13	2388	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	742					cell adhesion	basal plasma membrane|cell junction|extracellular region|integral to plasma membrane	chloride channel activity			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGCTTTAGCCGAGTCAGCT	0.463													T	86919122	C	T	86919122	2	4	564	1	0	0	0	0	0	0	0	1	3489	738	26	2		2	CLCA2	1	86919122	Silent	SNP	C	TCGA-HT-7874-01A-11D-2395-08		86919122	162331499	1	48311											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	564	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		209113112	34086261	2	48312											
PLSCR2	57047	broad.mit.edu	37	chr3	146173222	146173222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttcttgatttcatacatgTtactactttcaaaactgaat	12	18	4	7	0	3	2	2	2	1	0	3	2	3	2	0	0	4	2	0	0	6	7			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:146173222T>C	ENST00000497985.1	-	6	783	c.344A>G	c.(343-345)aAc>aGc	p.N115S	PLSCR2_ENST00000336685.2_Missense_Mutation_p.N42S	NM_001199978.1	NP_001186907.1	Q9NRY7	PLS2_HUMAN	phospholipid scramblase 2	42					phospholipid scrambling	integral to membrane|plasma membrane	calcium ion binding|phospholipid scramblase activity			endometrium(2)|large_intestine(5)|lung(7)|stomach(1)	15						TTCATACATGTTACTACTTTC	0.323													C	146173222	T	C	146173222	3	2	564	1	0	0	0	0	1	0	0	0	12187	1725	60	3	565	3	PLSCR2	3	146173222	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		146173222	51849208	3	48313											
PIK3CA	5290	broad.mit.edu	37	chr3	178952073	178952073	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtatttcatgaaacaaaTgaatgatgcacatcatggtg	15	11	10	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr3:178952073T>C	ENST00000263967.3	+	21	3285	c.3128T>C	c.(3127-3129)aTg>aCg	p.M1043T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043T(4)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ATGAAACAAATGAATGATGCA	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178952073	T	C	178952073	3	2	564	1	0	0	0	0	1	0	0	0	11990	1464	51	3	3206	3	PIK3CA	3	178952073	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	32778851	178952073	19070357	4	48314											
KDR	3791	broad.mit.edu	37	chr4	55960997	55960997	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctacatcactgagggaCttctcctccacaaatccaga	11	11	5	14	0	4	2	1	1	3	1	7	3	6	3	3	1	1	0	3	1	2	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:55960997C>G	ENST00000263923.4	-	21	3238	c.2943G>C	c.(2941-2943)aaG>aaC	p.K981N		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	981	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	CACTGAGGGACTTCTCCTCCA	0.522			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			G	55960997	C	G	55960997	3	3	564	1	0	0	0	0	1	0	0	0	8197	564	20	4	1167	4	KDR	4	55960997	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		55960997	135193279	5	48315											
UGT2B11	10720	broad.mit.edu	37	chr4	70070265	70070265	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcaatgttatcaggttgaTcaaaaaacaatggaatgccc	16	9	9	7	0	2	1	2	1	0	0	2	3	2	2	1	2	3	3	1	2	7	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:70070265T>C	ENST00000446444.1	-	5	1201	c.1193A>G	c.(1192-1194)gAt>gGt	p.D398G	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	398					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						ATCAGGTTGATCAAAAAACAA	0.448													C	70070265	T	C	70070265	3	2	564	1	0	0	0	0	1	0	0	0	17059	1435	50	3	404	3	UGT2B11	4	70070265	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	14109268	70070265	121084011	6	48316											
GAR1	54433	broad.mit.edu	37	chr4	110745576	110745576	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttctcttaatcagggAgaggacattaagtgaaacag	15	12	9	5	0	2	2	1	1	1	1	3	4	2	3	0	2	1	0	0	2	4	5			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr4:110745576A>G	ENST00000226796.6	+	7	907	c.643A>G	c.(643-645)Aga>Gga	p.R215G	GAR1_ENST00000394631.3_Missense_Mutation_p.R215G	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	215	RGG-box 2.				rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						TTAATCAGGGAGAGGACATTA	0.328													G	110745576	A	G	110745576	3	3	564	1	0	0	0	0	1	0	0	0	6294	296	11	3	665	3	GAR1	4	110745576	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	40675311	110745576	80408700	7	48317											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089402	137089402	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggtgccaaactgcgaGaagtgctcgatcaggtcgcc	9	7	12	13	4	1	1	1	0	0	1	4	3	2	1	3	2	4	1	3	2	2	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:137089402G>T	ENST00000314940.4	-	1	637	c.354C>A	c.(352-354)ttC>ttA	p.F118L		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	118	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAACTGCGAGAAGTGCTCGA	0.587													T	137089402	G	T	137089402	3	4	564	1	0	0	0	0	1	0	0	0	7311	933	33	4	567	4	HNRNPA0	5	137089402	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		137089402	43825858	8	48318											
PCDHA3	56145	broad.mit.edu	37	chr5	140181778	140181778	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaatcccccaatgtcagaTcactgcacagttctactcga	12	9	7	13	1	3	1	2	0	1	1	5	3	4	2	2	1	2	2	2	1	3	2	rs140096953	by1000genomes	TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:140181778T>G	ENST00000522353.2	+	1	996	c.996T>G	c.(994-996)gaT>gaG	p.D332E	PCDHA3_ENST00000532566.2_Missense_Mutation_p.D332E|PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAATGTCAGATCACTGCACAG	0.378													G	140181778	T	G	140181778	3	3	564	1	0	0	0	0	1	0	0	0	11601	1432	50	5	998	5	PCDHA3	5	140181778	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	3092376	140181778	40733482	9	48319											
ARAP3	64411	broad.mit.edu	37	chr5	141035828	141035828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttccaaaggccactcccGttctggtttagagctctgag	8	11	9	13	1	2	2	0	1	2	1	4	2	4	2	4	2	1	3	4	2	2	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr5:141035828G>A	ENST00000239440.4	-	28	3870	c.3805C>T	c.(3805-3807)Cgg>Tgg	p.R1269W	ARAP3_ENST00000508305.1_Missense_Mutation_p.R1100W|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000513878.1_Missense_Mutation_p.R931W	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1269	PH 3.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						GGCCACTCCCGTTCTGGTTTA	0.522													A	141035828	G	A	141035828	3	1	564	1	0	0	0	0	1	0	0	0	843	1144	40	1	853	1	ARAP3	5	141035828	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08	854050	141035828	39879432	10	48320											
HFE	3077	broad.mit.edu	37	chr6	26094421	26094421	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtctccacaggaggagcCatggggcactacgtcttagc	8	9	12	12	1	2	0	0	0	2	0	3	2	2	2	2	4	3	1	2	4	2	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:26094421C>T	ENST00000357618.5	+	6	1136	c.1014C>T	c.(1012-1014)gcC>gcT	p.A338A	HFE_ENST00000461397.1_Silent_p.A324A|HFE_ENST00000336625.8_Silent_p.A232A|HFE_ENST00000309234.6_Intron|HFE_ENST00000317896.7_Silent_p.A246A|HFE_ENST00000349999.4_Silent_p.A250A|HFE_ENST00000397022.3_Silent_p.A315A|HFE_ENST00000488199.1_Silent_p.A236A|HFE_ENST00000352392.4_Silent_p.A66A|HFE_ENST00000353147.5_Silent_p.A158A|HFE_ENST00000470149.1_Silent_p.A335A	NM_000410.3|NM_139006.2	NP_000401.1|NP_620575.1	Q30201	HFE_HUMAN	hemochromatosis	338					antigen processing and presentation of peptide antigen via MHC class I|cellular iron ion homeostasis|immune response|iron ion transport|protein complex assembly|receptor-mediated endocytosis	apical part of cell|basal part of cell|cytoplasmic vesicle|early endosome|integral to plasma membrane|MHC class I protein complex|perinuclear region of cytoplasm|recycling endosome	protein binding			endometrium(3)|large_intestine(3)|liver(2)|lung(7)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CAGGAGGAGCCATGGGGCACT	0.502									Hemochromatosis				T	26094421	C	T	26094421	2	4	564	1	0	0	0	0	0	0	0	1	7136	581	21	2		2	HFE	6	26094421	Silent	SNP	C	TCGA-HT-7874-01A-11D-2395-08		26094421	145020646	11	48321											
IP6K3	117283	broad.mit.edu	37	chr6	33690730	33690730	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tggggctctttctggtggttCctgcccatcatagatgacaa	7	13	11	10	0	3	2	1	1	2	1	4	2	4	2	2	4	1	2	2	4	2	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:33690730C>G	ENST00000451316.1	-	7	1535	c.1000G>C	c.(1000-1002)Gaa>Caa	p.E334Q	IP6K3_ENST00000293756.4_Missense_Mutation_p.E334Q	NM_001142883.1	NP_001136355.1	Q96PC2	IP6K3_HUMAN	inositol hexakisphosphate kinase 3	334					inositol phosphate biosynthetic process|phosphatidylinositol metabolic process|protein phosphorylation	cytoplasm	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol hexakisphosphate 6-kinase activity|inositol trisphosphate 3-kinase activity			skin(1)	1						TCTGGTGGTTCCTGCCCATCA	0.602													G	33690730	C	G	33690730	3	3	564	1	0	0	0	0	1	0	0	0	7848	864	30	4	236	4	IP6K3	6	33690730	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	7596309	33690730	137424337	12	48322											
REPS1	85021	broad.mit.edu	37	chr6	139229869	139229869	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcttttgtgtatgttcatCaacttctggccttaattcat	7	19	6	9	1	5	0	3	0	2	0	5	0	5	0	1	1	1	2	1	1	3	7			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr6:139229869C>G	ENST00000450536.2	-	18	2726	c.2152G>C	c.(2152-2154)Gat>Cat	p.D718H	REPS1_ENST00000258062.5_Missense_Mutation_p.D717H|REPS1_ENST00000415951.2_Missense_Mutation_p.D659H|REPS1_ENST00000367663.4_Missense_Mutation_p.D691H|REPS1_ENST00000409812.2_Missense_Mutation_p.D627H			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	718	Interaction with RALBP1 (By similarity).					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		GTATGTTCATCAACTTCTGGC	0.388													G	139229869	C	G	139229869	3	3	564	1	0	0	0	0	1	0	0	0	13316	826	29	4	250	4	REPS1	6	139229869	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	105539139	139229869	31885198	13	48323											
BAZ1B	9031	broad.mit.edu	37	chr7	72925148	72925148	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actcttgcacgtccaaatgcGctcactgtacctttccaagc	9	11	6	15	2	2	0	1	0	1	0	4	0	4	0	3	0	4	3	3	0	3	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:72925148G>A	ENST00000339594.4	-	2	480	c.142C>T	c.(142-144)Cgc>Tgc	p.R48C	BAZ1B_ENST00000404251.1_Missense_Mutation_p.R48C	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	48	Mediates the tyrosine-protein kinase activity.|WAC.				ATP-dependent chromatin remodeling|chromatin-mediated maintenance of transcription|DNA replication-dependent nucleosome disassembly|double-strand break repair|heart morphogenesis|transcription, DNA-dependent	WINAC complex	ATP binding|chromatin binding|histone acetyl-lysine binding|histone kinase activity|non-membrane spanning protein tyrosine kinase activity|protein complex scaffold|vitamin D receptor activator activity|vitamin D receptor binding|zinc ion binding			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				GTCCAAATGCGCTCACTGTAC	0.463													A	72925148	G	A	72925148	3	1	564	1	0	0	0	0	1	0	0	0	1335	1087	38	1	4381	1	BAZ1B	7	72925148	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		72925148	86213515	14	48324											
LIMK1	3984	broad.mit.edu	37	chr7	73513495	73513495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggcaagcgtggacttTcagtctccattgaccccccg	7	10	9	15	2	3	1	2	1	1	0	4	2	3	2	4	2	1	1	4	2	1	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr7:73513495T>C	ENST00000418310.1	+	5	727	c.625T>C	c.(625-627)Tca>Cca	p.S209P	LIMK1_ENST00000336180.2_Missense_Mutation_p.S179P|LIMK1_ENST00000491052.1_3'UTR|LIMK1_ENST00000538333.3_Missense_Mutation_p.S145P			P53667	LIMK1_HUMAN	LIM domain kinase 1	179	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				GCGTGGACTTTCAGTCTCCAT	0.677													C	73513495	T	C	73513495	3	2	564	1	0	0	0	0	1	0	0	0	8861	1783	62	3	553	3	LIMK1	7	73513495	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	588347	73513495	85625168	15	48325											
MYOF	26509	broad.mit.edu	37	chr10	95072807	95072807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgccatctttctctgcGtagcatggccaccatccttt	5	12	9	15	3	2	0	0	0	2	0	4	0	3	0	4	2	2	2	4	2	1	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr10:95072807G>A	ENST00000371501.4	-	51	5981	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000359263.4_Silent_p.Y1953Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y			Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													A	95072807	G	A	95072807	2	1	564	1	0	0	0	0	0	0	0	1	10165	1140	40	1		1	MYOF	10	95072807	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		95072807	40461940	16	48326											
CCDC88B	283234	broad.mit.edu	37	chr11	64112395	64112395	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggagcaagcccggctgcgGgaggcagtggaggctgctgg	6	5	21	9	2	0	0	0	0	0	0	0	3	0	3	1	7	4	5	1	7	1	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr11:64112395G>A	ENST00000356786.5	+	14	2426	c.2382G>A	c.(2380-2382)cgG>cgA	p.R794R	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	794					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCCGGCTGCGGGAGGCAGTGG	0.741													A	64112395	G	A	64112395	2	1	564	1	0	0	0	0	0	0	0	1	2892	1219	43	2		2	CCDC88B	11	64112395	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		64112395	70894121	17	48327											
EP400	57634	broad.mit.edu	37	chr12	132466834	132466834	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgcagtttgcacagcaGccgcaagtggtagaggccca	9	6	14	12	2	0	1	0	0	0	1	0	1	0	1	2	2	4	7	2	2	2	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr12:132466834G>A	ENST00000333577.4	+	6	1957	c.1848G>A	c.(1846-1848)caG>caA	p.Q616Q	EP400_ENST00000389561.2_Silent_p.Q580Q|EP400_ENST00000389562.2_Silent_p.Q579Q|EP400_ENST00000332482.4_Silent_p.Q543Q|EP400_ENST00000330386.6_Silent_p.Q580Q			Q96L91	EP400_HUMAN	E1A binding protein p400	616					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		TTGCACAGCAGCCGCAAGTGG	0.657													A	132466834	G	A	132466834	2	1	564	1	0	0	0	0	0	0	0	1	5190	962	34	2		2	EP400	12	132466834	Silent	SNP	G	TCGA-HT-7874-01A-11D-2395-08		132466834	1385061	18	48328											
CYP4F3	4051	broad.mit.edu	37	chr19	15769595	15769595	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagaggtcacctctggcttTtattcccttctcagcagggc	6	12	11	12	0	3	1	2	0	2	1	5	2	4	1	2	4	1	2	2	4	1	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:15769595T>A	ENST00000221307.8	+	12	1420	c.1373T>A	c.(1372-1374)tTt>tAt	p.F458Y	CYP4F3_ENST00000585846.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000591058.1_Missense_Mutation_p.F458Y|CYP4F3_ENST00000586182.2_Missense_Mutation_p.F458Y	NM_000896.2	NP_000887.2	Q08477	CP4F3_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 3						leukotriene metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding			endometrium(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|stomach(1)	34						CCTCTGGCTTTTATTCCCTTC	0.592													A	15769595	T	A	15769595	3	1	564	1	0	0	0	0	1	0	0	0	4223	1841	64	5	1415	5	CYP4F3	19	15769595	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08		15769595	43359388	19	48329											
CCDC97	90324	broad.mit.edu	37	chr19	41826329	41826329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggagttcaccagccgcAtgcaccagcgcttcctagat	10	7	11	13	2	1	2	1	0	0	2	2	4	2	3	4	1	3	4	4	1	1	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:41826329A>G	ENST00000269967.3	+	4	987	c.865A>G	c.(865-867)Atg>Gtg	p.M289V		NM_052848.1	NP_443080.1	Q96F63	CCD97_HUMAN	coiled-coil domain containing 97	289										biliary_tract(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)	17						CACCAGCCGCATGCACCAGCG	0.637													G	41826329	A	G	41826329	3	3	564	1	0	0	0	0	1	0	0	0	2903	217	8	3	879	3	CCDC97	19	41826329	Missense_Mutation	SNP	A	TCGA-HT-7874-01A-11D-2395-08	26056734	41826329	17302654	20	48330											
PRKCG	5582	broad.mit.edu	37	chr19	54395814	54395814	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcgtggaggtgtgggaCtgggaccggacctcccgcaa	7	6	16	12	3	1	0	1	0	0	0	2	4	2	4	3	5	1	1	3	5	1	0			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr19:54395814C>G	ENST00000263431.3	+	7	1020	c.738C>G	c.(736-738)gaC>gaG	p.D246E	PRKCG_ENST00000542049.1_Missense_Mutation_p.D133E|PRKCG_ENST00000536044.1_Missense_Mutation_p.D246E|PRKCG_ENST00000540413.1_Missense_Mutation_p.D246E	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma	246	C2.				activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding			large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		AGGTGTGGGACTGGGACCGGA	0.672													G	54395814	C	G	54395814	3	3	564	1	0	0	0	0	1	0	0	0	12598	564	20	4	764	4	PRKCG	19	54395814	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	12569485	54395814	4733169	21	48331											
NFATC2	4773	broad.mit.edu	37	chr20	50139839	50139839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggggggatcccacaaggcGagtccgtggcgaggctgttc	6	7	18	10	3	0	0	0	0	0	0	3	3	2	1	2	6	0	2	2	6	1	1			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr20:50139839G>A	ENST00000371564.3	-	2	1160	c.941C>T	c.(940-942)tCg>tTg	p.S314L	NFATC2_ENST00000396009.3_Missense_Mutation_p.S314L|NFATC2_ENST00000609943.1_Missense_Mutation_p.S294L|NFATC2_ENST00000609507.1_Missense_Mutation_p.S95L|NFATC2_ENST00000414705.1_Missense_Mutation_p.S294L|NFATC2_ENST00000610033.1_Missense_Mutation_p.S95L	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	314					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CCCACAAGGCGAGTCCGTGGC	0.687													A	50139839	G	A	50139839	3	1	564	1	0	0	0	0	1	0	0	0	10438	1059	37	1	1920	1	NFATC2	20	50139839	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		50139839	12885681	22	48332											
BTG3	10950	broad.mit.edu	37	chr21	18966541	18966541	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgatttggataaccaaatGgaacaggaggaggatagtga	15	8	13	5	0	0	2	0	2	0	0	0	7	0	7	2	5	2	0	2	5	4	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr21:18966541G>A	ENST00000339775.6	-	6	914	c.761C>T	c.(760-762)cCa>cTa	p.P254L	BTG3_ENST00000348354.6_Missense_Mutation_p.P210L	NM_001130914.1	NP_001124386.1	Q14201	BTG3_HUMAN	BTG family, member 3	210					negative regulation of cell proliferation|negative regulation of mitotic cell cycle	cytoplasm				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)	8				Epithelial(23;0.000283)|all cancers(11;0.0012)|Lung(58;0.0191)|OV - Ovarian serous cystadenocarcinoma(11;0.0206)|COAD - Colon adenocarcinoma(22;0.0315)|LUSC - Lung squamous cell carcinoma(23;0.0703)|Colorectal(24;0.0971)		ATAACCAAATGGAACAGGAGG	0.458													A	18966541	G	A	18966541	3	1	564	1	0	0	0	0	1	0	0	0	1565	1348	47	2	133	2	BTG3	21	18966541	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		18966541	29163354	23	48333											
SAMM50	25813	broad.mit.edu	37	chr22	44377307	44377307	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggggcggaatgttggtaCccattggtgataagccgtca	8	11	14	8	2	2	1	1	1	1	0	2	2	2	2	2	5	2	2	2	5	3	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chr22:44377307C>T	ENST00000350028.4	+	11	1130	c.973C>T	c.(973-975)Ccc>Tcc	p.P325S	SAMM50_ENST00000396202.3_Missense_Mutation_p.P115S	NM_015380.4	NP_056195.3	Q9Y512	SAM50_HUMAN	SAMM50 sorting and assembly machinery component	325					protein import into mitochondrial outer membrane	integral to membrane|integral to membrane of membrane fraction|mitochondrial sorting and assembly machinery complex	protein binding			endometrium(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_neural(38;0.0966)|Ovarian(80;0.105)|Glioma(61;0.222)				AATGTTGGTACCCATTGGTGA	0.388													T	44377307	C	T	44377307	3	4	564	1	0	0	0	0	1	0	0	0	13920	507	18	2	1015	2	SAMM50	22	44377307	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08		44377307	6927259	24	48334											
ZNF645	158506	broad.mit.edu	37	chrX	22291314	22291314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcctattaaaatctatgggcGaataattccgtgcaagcatg	13	11	9	8	2	1	0	0	0	1	0	2	1	2	0	2	1	2	2	2	1	7	5			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:22291314G>A	ENST00000323684.1	+	1	250	c.206G>A	c.(205-207)cGa>cAa	p.R69Q		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	69						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						ATCTATGGGCGAATAATTCCG	0.383													A	22291314	G	A	22291314	3	1	564	1	0	0	0	0	1	0	0	0	18162	1058	37	1	208	1	ZNF645	23	22291314	Missense_Mutation	SNP	G	TCGA-HT-7874-01A-11D-2395-08		22291314	132979246	25	48335											
DGKK	139189	broad.mit.edu	37	chrX	50127815	50127815	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtctgtctgctttcctcAtccagagctatagagaaaag	11	13	8	9	0	3	2	1	0	2	2	5	3	5	2	2	0	2	2	2	0	4	4			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50127815A>C	ENST00000376025.2	-	0	2414							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTTTCCTCATCCAGAGCTA	0.453													C	50127815	A	C	50127815	1	2	564	0	1	0	0	0	0	0	0	0	4511	214	8	5		5	DGKK	23	50127815	RNA	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27836501	50127815	105142745	26	48336											
SHROOM4	57477	broad.mit.edu	37	chrX	50377684	50377685	+	Frame_Shift_Ins	INS	-	-	G																															ggtcatgggttcctcctgtaINSggggggcatggacttttctt																										TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:50377684_50377685insG	ENST00000376020.2	-	4	1413_1414	c.1388_1389insC	c.(1387-1389)cctfs	p.P463fs	SHROOM4_ENST00000289292.7_Frame_Shift_Ins_p.P463fs|SHROOM4_ENST00000460112.3_Frame_Shift_Ins_p.P347fs	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	463					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TTCCTCCTGTAGGGGGGCATGG	0.554													G	50377685	-	G	50377684	7	5	564	1	0	1	1	0	0	0	0	0	14390	407	15	0	3116	0	SHROOM4	23	50377684	Frame_Shift_Ins	INS	-	TCGA-HT-7874-01A-11D-2395-08	249869	50377684	104892876	27	48337											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913195	77913195	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatctccactgaaggttaaAgtgtattgcagggggaaatc	13	10	12	6	0	1	1	0	1	1	0	3	3	1	2	1	3	1	3	1	3	6	3			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:77913195A>T	ENST00000321110.1	-	2	1018	c.723T>A	c.(721-723)acT>acA	p.T241T		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	241							nucleic acid binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TGAAGGTTAAAGTGTATTGCA	0.502													T	77913195	A	T	77913195	2	4	564	1	0	0	0	0	0	0	0	1	17692	59	3	5		5	ZCCHC5	23	77913195	Silent	SNP	A	TCGA-HT-7874-01A-11D-2395-08	27535511	77913195	77357365	28	48338											
PCDH19	57526	broad.mit.edu	37	chrX	99662610	99662610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgacggtgaccttgcagTgtgccgggatggaattgggc	6	9	17	9	3	0	2	0	2	0	0	0	4	0	4	2	4	2	2	2	4	1	2			TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:99662610T>C	ENST00000373034.4	-	1	2661	c.986A>G	c.(985-987)cAc>cGc	p.H329R	PCDH19_ENST00000420881.2_Missense_Mutation_p.H329R|PCDH19_ENST00000255531.7_Missense_Mutation_p.H329R	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	329	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GACCTTGCAGTGTGCCGGGAT	0.592													C	99662610	T	C	99662610	3	2	564	1	0	0	0	0	1	0	0	0	11590	1696	59	3	2484	3	PCDH19	23	99662610	Missense_Mutation	SNP	T	TCGA-HT-7874-01A-11D-2395-08	21749415	99662610	55607950	29	48339											
MAGEC1	9947	broad.mit.edu	37	chrX	140994428	140994428	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctctccagattcctatgaCctcctccttctcctctactt	5	16	2	18	0	3	2	0	1	3	1	9	2	7	2	7	0	1	0	7	0	2	5	rs72236299		TCGA-HT-7874-01A-11D-2395-08	TCGA-HT-7874-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0c6a82e9-3ef8-4f1f-89ba-b936f1ebe17b	159201aa-9f74-4b4a-ba23-b6863a698317	g.chrX:140994428C>A	ENST00000285879.4	+	4	1524	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	413							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					ATTCCTATGACCTCCTCCTTC	0.463										HNSCC(15;0.026)			A	140994428	C	A	140994428	3	1	564	1	0	0	0	0	1	0	0	0	9255	507	18	4	1244	4	MAGEC1	23	140994428	Missense_Mutation	SNP	C	TCGA-HT-7874-01A-11D-2395-08	41331818	140994428	14276132	30	48340											
TCEB3	6924	broad.mit.edu	37	chr1	24080638	24080638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agctggatttactgggcgcaGaatgaattccaagatgcagg	12	9	13	7	1	0	3	0	1	0	2	1	4	1	4	1	3	3	3	1	3	4	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:24080638G>A	ENST00000418390.2	+	6	1935	c.1664G>A	c.(1663-1665)aGa>aAa	p.R555K	TCEB3_ENST00000609199.1_Missense_Mutation_p.R529K	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	555	Activation domain (By similarity).				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		ACTGGGCGCAGAATGAATTCC	0.448													A	24080638	G	A	24080638	3	1	565	1	0	0	0	0	1	0	0	0	15781	942	33	2	1686	2	TCEB3	1	24080638	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		24080638	225169983	1	48341											
ZNF683	257101	broad.mit.edu	37	chr1	26691295	26691295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagggtctcccaccgagCgctggggtgccccagctcat	7	6	13	15	2	2	0	1	0	1	0	3	1	2	0	4	3	4	3	4	3	1	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:26691295C>T	ENST00000436292.1	-	4	862	c.742G>A	c.(742-744)Gct>Act	p.A248T	ZNF683_ENST00000374204.1_Missense_Mutation_p.A248T|ZNF683_ENST00000349618.3_Missense_Mutation_p.A248T|ZNF683_ENST00000403843.1_Missense_Mutation_p.A248T			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	248					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.L228_W235delLGHPSARW(1)|p.L243_W250delLGHPSARW(1)		NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		TCCCACCGAGCGCTGGGGTGC	0.642													T	26691295	C	T	26691295	3	4	565	1	0	0	0	0	1	0	0	0	18191	768	27	1	784	1	ZNF683	1	26691295	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2610657	26691295	222559326	2	48342											
FLG	2312	broad.mit.edu	37	chr1	152286155	152286155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgcagatgaagcttgccCgcgcccagtggctgagtgtc	7	8	14	12	2	0	3	0	2	0	1	1	4	0	3	2	1	3	3	2	1	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:152286155C>T	ENST00000368799.1	-	3	1242	c.1207G>A	c.(1207-1209)Ggg>Agg	p.G403R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	403	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAAGCTTGCCCGCGCCCAGTG	0.562									Ichthyosis				T	152286155	C	T	152286155	3	4	565	1	0	0	0	0	1	0	0	0	5971	652	23	1	10982	1	FLG	1	152286155	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	125594860	152286155	96964466	3	48343											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	11	9	12	9	1	2	1	2	0	0	1	3	3	2	1	1	2	3	2	1	2	3	4	rs149372418	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													A	168510202	G	A	168510202	2	1	565	1	0	0	0	0	0	0	0	1	17526	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16224047	168510202	80740419	4	48344											
ARID4B	51742	broad.mit.edu	37	chr1	235345098	235345098	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agccagtggttctgatactgTtacagaagactgctgccggc	9	10	12	10	1	1	3	0	1	1	2	1	3	1	3	2	2	5	3	2	2	3	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr1:235345098T>C	ENST00000264183.3	-	20	3633	c.3136A>G	c.(3136-3138)Aca>Gca	p.T1046A	ARID4B_ENST00000494543.1_5'UTR|ARID4B_ENST00000349213.3_Missense_Mutation_p.T960A|ARID4B_ENST00000366603.2_Missense_Mutation_p.T1046A	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	1046					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TCTGATACTGTTACAGAAGAC	0.473													C	235345098	T	C	235345098	3	2	565	1	0	0	0	0	1	0	0	0	923	1725	60	3	822	3	ARID4B	1	235345098	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	66834896	235345098	13905523	5	48345											
TPO	7173	broad.mit.edu	37	chr2	1491722	1491722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcaccttggatctggCgtccatcaacctgcagaggg	8	9	11	13	1	2	1	1	0	1	1	4	2	4	2	4	3	3	2	4	3	1	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:1491722C>A	ENST00000345913.4	+	10	1818	c.1727C>A	c.(1726-1728)gCg>gAg	p.A576E	TPO_ENST00000349624.3_Missense_Mutation_p.A403E|TPO_ENST00000329066.4_Missense_Mutation_p.A576E|TPO_ENST00000382201.3_Intron|TPO_ENST00000497517.2_Intron|TPO_ENST00000382198.1_Missense_Mutation_p.A403E|TPO_ENST00000346956.3_Missense_Mutation_p.A576E|TPO_ENST00000337415.3_Missense_Mutation_p.A576E	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	576					cellular nitrogen compound metabolic process|hormone biosynthetic process|hydrogen peroxide catabolic process	cell surface|cytoplasm|integral to plasma membrane	calcium ion binding|heme binding|iodide peroxidase activity	p.A576E(1)		breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Methimazole(DB00763)|Propylthiouracil(DB00550)	TTGGATCTGGCGTCCATCAAC	0.592													A	1491722	C	A	1491722	3	1	565	1	0	0	0	0	1	0	0	0	16511	768	27	4	1761	4	TPO	2	1491722	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		1491722	241707651	6	48346											
MBD5	55777	broad.mit.edu	37	chr2	149227787	149227787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctttaagaggggaagccGtgcactgccacaatgcaaac	13	7	10	11	1	0	1	0	0	0	1	0	2	0	2	3	2	6	2	3	2	5	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:149227787G>A	ENST00000407073.1	+	9	3272	c.2275G>A	c.(2275-2277)Gtg>Atg	p.V759M	MBD5_ENST00000404807.1_Missense_Mutation_p.V759M	NM_018328.4	NP_060798.2	Q9P267	MBD5_HUMAN	methyl-CpG binding domain protein 5	759						chromosome|nucleus	chromatin binding|DNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(16)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	62				BRCA - Breast invasive adenocarcinoma(221;0.0569)		AGGGGAAGCCGTGCACTGCCA	0.448													A	149227787	G	A	149227787	3	1	565	1	0	0	0	0	1	0	0	0	9422	1145	40	1	2289	1	MBD5	2	149227787	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	147736065	149227787	93971586	7	48347											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	565	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	59885325	209113112	34086261	8	48348											
FAM124B	79843	broad.mit.edu	37	chr2	225266211	225266211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggtagcactgccatggcGaatgctggagagagtccagg	9	7	17	8	1	0	1	0	0	0	1	1	4	1	2	2	5	3	3	2	5	2	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr2:225266211G>A	ENST00000389874.3	-	1	500	c.275C>T	c.(274-276)tCg>tTg	p.S92L	FAM124B_ENST00000243806.2_Missense_Mutation_p.S92L|FAM124B_ENST00000409685.3_Missense_Mutation_p.S92L	NM_024785.2	NP_079061.2	Q9H5Z6	F124B_HUMAN	family with sequence similarity 124B	92							protein binding			endometrium(2)|large_intestine(2)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	16		Renal(207;0.0112)|all_lung(227;0.0126)|Lung NSC(271;0.0161)|all_hematologic(139;0.138)		Epithelial(121;4.4e-10)|all cancers(144;2.02e-07)|Lung(261;0.00766)|LUSC - Lung squamous cell carcinoma(224;0.00825)		CTGCCATGGCGAATGCTGGAG	0.582													A	225266211	G	A	225266211	3	1	565	1	0	0	0	0	1	0	0	0	5471	1059	37	1	1191	1	FAM124B	2	225266211	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	16153099	225266211	17933162	9	48349											
IQSEC1	9922	broad.mit.edu	37	chr3	12977072	12977072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgagcgtctgctcccGcaggctgtcacgggacgatg	5	9	14	13	4	2	1	1	1	1	0	3	3	3	2	1	2	3	4	1	2	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:12977072G>A	ENST00000273221.4	-	3	1702	c.1486C>T	c.(1486-1488)Cgg>Tgg	p.R496W		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	496					regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GTCTGCTCCCGCAGGCTGTCA	0.582													A	12977072	G	A	12977072	3	1	565	1	0	0	0	0	1	0	0	0	7875	1086	38	1	1998	1	IQSEC1	3	12977072	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		12977072	185045358	10	48350											
COL7A1	1294	broad.mit.edu	37	chr3	48609570	48609570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacctcaccttctcgcctCgcggccctggcagtcctcgg	3	8	9	21	4	2	0	1	0	1	0	6	0	3	0	6	3	0	1	6	3	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:48609570C>T	ENST00000328333.8	-	90	7120	c.7013G>A	c.(7012-7014)cGa>cAa	p.R2338Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R2306Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2338	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity	p.R2338Q(1)		NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CTTCTCGCCTCGCGGCCCTGG	0.612													T	48609570	C	T	48609570	3	4	565	1	0	0	0	0	1	0	0	0	3735	884	31	1	1937	1	COL7A1	3	48609570	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	35632498	48609570	149412860	11	48351											
UBA7	7318	broad.mit.edu	37	chr3	49848836	49848836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtggctcttcctctgtcCgcttcagtggttccaggtcc	3	13	10	15	1	3	0	1	0	2	0	7	0	7	0	5	3	0	3	5	3	0	3	rs12486358		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:49848836C>T	ENST00000333486.3	-	9	1150	c.992G>A	c.(991-993)cGg>cAg	p.R331Q		NM_003335.2	NP_003326.2	P41226	UBA7_HUMAN	ubiquitin-like modifier activating enzyme 7	331	2 approximate repeats.				ISG15-protein conjugation|negative regulation of type I interferon production	cytosol	ATP binding|ISG15 activating enzyme activity|ligase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(15)|large_intestine(4)|lung(7)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	33				BRCA - Breast invasive adenocarcinoma(193;3.58e-06)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		ttccTCTGTCCGCTTCAGTGG	0.602													T	49848836	C	T	49848836	3	4	565	1	0	0	0	0	1	0	0	0	16935	652	23	1	2110	1	UBA7	3	49848836	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	1239266	49848836	148173594	12	48352											
VGLL3	389136	broad.mit.edu	37	chr3	87018080	87018080	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcagacacagcagggggAggggctgggccagtctgatg	9	5	18	9	0	2	2	1	1	1	1	2	4	2	3	1	5	1	2	1	5	0	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:87018080A>G	ENST00000398399.2	-	3	960	c.597T>C	c.(595-597)ccT>ccC	p.P199P	VGLL3_ENST00000383698.3_Silent_p.P199P	NM_016206.2	NP_057290.2	A8MV65	VGLL3_HUMAN	vestigial like 3 (Drosophila)	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(11)	19	all_cancers(8;0.109)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00241)|Lung(72;0.00712)		CAGCAGGGGGAGGGGCTGGGC	0.587													G	87018080	A	G	87018080	2	3	565	1	0	0	0	0	0	0	0	1	17262	291	11	3		3	VGLL3	3	87018080	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	37169244	87018080	111004350	13	48353											
ZNF654	55279	broad.mit.edu	37	chr3	88188745	88188748	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															aaggatttggaagtggagacActtactgcttctagtgaagg																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr3:88188745_88188748delACTT	ENST00000309495.5	+	1	492_495	c.285_288delACTT	c.(283-288)acacttfs	p.TL95fs	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	95					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AAGTGGAGACACTTACTGCTTCTA	0.358													-	88188748	ACTT	-	88188745	7	5	565	1	0	1	0	1	0	0	0	0	18168	146	6	0	287	0	ZNF654	3	88188745	Frame_Shift_Del	DEL	ACTT	TCGA-HT-7875-01A-11D-2395-08	1170665	88188745	109833685	14	48354											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076606	+	In_Frame_Del	DEL	CAG	CAG	-																															tcgagtccctcaagtccttcCagcagcagcagcagcagcag																								rs71180116		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:3076604_3076606delCAG	ENST00000355072.5	+	1	197_199	c.52_54delCAG	c.(52-54)cagdel	p.Q38del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	38	Poly-Gln.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagc	0.704													-	3076606	CAG	-	3076604	7	5	565	1	0	1	0	1	0	0	0	0	7515	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAG	TCGA-HT-7875-01A-11D-2395-08		3076604	188077672	15	48355											
GABRA4	2557	broad.mit.edu	37	chr4	46979112	46979112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagggcatgcatgaccatcCatgggaaaatccaccaatct	15	7	8	11	0	1	1	0	1	1	0	3	2	3	2	4	2	1	2	4	2	4	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:46979112C>T	ENST00000264318.3	-	5	1525	c.543G>A	c.(541-543)atG>atA	p.M181I		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	181					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CATGACCATCCATGGGAAAAT	0.333													T	46979112	C	T	46979112	3	4	565	1	0	0	0	0	1	0	0	0	6215	594	21	2	1141	2	GABRA4	4	46979112	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	43902508	46979112	144175164	16	48356											
CLOCK	9575	broad.mit.edu	37	chr4	56301648	56301648	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccggctgagttgctgctgTtgctgagactgatgttgctg	4	14	15	8	1	0	3	0	3	0	1	0	4	0	3	1	1	5	8	1	1	0	3			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:56301648T>C	ENST00000309964.4	-	22	2725	c.2475A>G	c.(2473-2475)caA>caG	p.Q825Q	CLOCK_ENST00000513440.1_Silent_p.Q825Q|CLOCK_ENST00000381322.1_Silent_p.Q825Q	NM_004898.3	NP_004889.1	O15516	CLOCK_HUMAN	clock circadian regulator	825	Poly-Gln.				circadian rhythm|photoperiodism|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|transcription factor complex	DNA binding|histone acetyltransferase activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(8)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38	Lung NSC(11;0.00335)|Glioma(25;0.08)|all_epithelial(27;0.0992)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(4;1.62e-07)|Lung(4;1.34e-06)|Epithelial(7;0.0107)			GTTGCTGCTGTTGCTGAGACT	0.527													C	56301648	T	C	56301648	2	2	565	1	0	0	0	0	0	0	0	1	3580	1722	60	3		3	CLOCK	4	56301648	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	9322536	56301648	134852628	17	48357											
NPFFR2	10886	broad.mit.edu	37	chr4	72994632	72994632	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactgctggacaatattatAgcaggtatgttggcttttgt	10	15	10	6	0	0	0	0	0	0	0	0	1	0	1	0	3	2	5	0	3	5	7			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:72994632A>T	ENST00000308744.6	+	2	728	c.630A>T	c.(628-630)atA>atT	p.I210I	NPFFR2_ENST00000358749.3_Silent_p.I108I|NPFFR2_ENST00000395999.1_Silent_p.I111I|NPFFR2_ENST00000344413.5_Intron	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	210					detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			ACAATATTATAGCAGGTATGT	0.368													T	72994632	A	T	72994632	2	4	565	1	0	0	0	0	0	0	0	1	10654	410	15	5		5	NPFFR2	4	72994632	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08	16692984	72994632	118159644	18	48358											
INPP4B	8821	broad.mit.edu	37	chr4	143094941	143094941	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgtgttttcaggtgaataGtaaataaactggtatccggt	11	14	11	5	1	1	1	1	1	0	0	2	1	2	1	1	3	1	4	1	3	7	6			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr4:143094941G>A	ENST00000513000.1	-	17	1636	c.1203C>T	c.(1201-1203)taC>taT	p.Y401Y	INPP4B_ENST00000509777.1_Silent_p.Y401Y|INPP4B_ENST00000308502.4_Silent_p.Y401Y|INPP4B_ENST00000508116.1_Silent_p.Y401Y|INPP4B_ENST00000262992.4_Silent_p.Y401Y	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	401					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					CAGGTGAATAGTAAATAAACT	0.368													A	143094941	G	A	143094941	2	1	565	1	0	0	0	0	0	0	0	1	7811	1024	36	2		2	INPP4B	4	143094941	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	70100309	143094941	48059335	19	48359											
MARCH6	10299	broad.mit.edu	37	chr5	10426541	10426541	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaacattgaccttcactatAttgttcgtaaactggcagct	11	13	8	9	1	1	1	1	1	0	0	2	2	1	2	1	2	3	4	1	2	5	7			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:10426541A>T	ENST00000274140.5	+	24	2545	c.2413A>T	c.(2413-2415)Att>Ttt	p.I805F	MARCH6_ENST00000449913.2_Missense_Mutation_p.I757F|MARCH6_ENST00000503788.1_Missense_Mutation_p.I700F|MARCH6_ENST00000510792.1_Missense_Mutation_p.I503F	NM_005885.3	NP_005876.2	O60337	MARH6_HUMAN	membrane-associated ring finger (C3HC4) 6, E3 ubiquitin protein ligase	805					protein K48-linked ubiquitination	integral to endoplasmic reticulum membrane	ubiquitin conjugating enzyme binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(35)|ovary(1)|urinary_tract(3)	54						CCTTCACTATATTGTTCGTAA	0.403													T	10426541	A	T	10426541	3	4	565	1	0	0	0	0	1	0	0	0	9380	449	16	5	2507	5	MARCH6	5	10426541	Missense_Mutation	SNP	A	TCGA-HT-7875-01A-11D-2395-08		10426541	170488719	20	48360											
FGFR4	2264	broad.mit.edu	37	chr5	176520245	176520245	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgctcctgctgctggccggGctgtatcgagggcaggcgct	3	9	17	12	3	0	0	0	0	0	0	2	1	1	0	2	4	3	7	2	4	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr5:176520245G>A	ENST00000292408.4	+	9	1409	c.1164G>A	c.(1162-1164)ggG>ggA	p.G388G	FGFR4_ENST00000292410.3_Intron|FGFR4_ENST00000502906.1_Silent_p.G388G|FGFR4_ENST00000393648.2_Intron|FGFR4_ENST00000393637.1_Intron	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	388			G -> R (in dbSNP:rs351855).		insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	TGCTGGCCGGGCTGTATCGAG	0.701										TSP Lung(9;0.080)			A	176520245	G	A	176520245	2	1	565	1	0	0	0	0	0	0	0	1	5917	1190	42	2		2	FGFR4	5	176520245	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	166093704	176520245	4395015	21	48361											
SYCP2L	221711	broad.mit.edu	37	chr6	10955433	10955436	+	Frame_Shift_Del	DEL	AAGA	AAGA	-																															atcccctttctcaataacagAagaaagagagttgccaggta																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr6:10955433_10955436delAAGA	ENST00000283141.6	+	24	2335_2338	c.2039_2042delAAGA	c.(2038-2043)gaagaafs	p.EE680fs		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	680						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			TCAATAACAGAAGAAAGAGAGTTG	0.451											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	10955436	AAGA	-	10955433	7	5	565	1	0	1	0	1	0	0	0	0	15530	246	9	0	2133	0	SYCP2L	6	10955433	Frame_Shift_Del	DEL	AAGA	TCGA-HT-7875-01A-11D-2395-08		10955433	160159634	22	48362											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151	by1000genomes	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													GCC	1586663	-	GCC	1586662	7	5	565	1	0	1	1	0	0	0	0	0	16204	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-HT-7875-01A-11D-2395-08		1586662	157552001	23	48363											
MUC17	140453	broad.mit.edu	37	chr7	100678653	100678653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaagtcagttcatctcCtacacctgctgaaggtacca	12	11	7	11	0	3	2	2	2	1	0	4	2	3	2	3	1	3	3	3	1	5	4	rs144372503	byFrequency	TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr7:100678653C>T	ENST00000306151.4	+	3	4020	c.3956C>T	c.(3955-3957)cCt>cTt	p.P1319L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1319	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)					AGTTCATCTCCTACACCTGCT	0.478													T	100678653	C	T	100678653	3	4	565	1	0	0	0	0	1	0	0	0	10050	681	24	2	3966	2	MUC17	7	100678653	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	99091991	100678653	58460010	24	48364											
CLU	1191	broad.mit.edu	37	chr8	27472227	27472227	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacgccgcgttgtgggcActgggaggcgccgtatttat	5	9	17	10	6	0	0	0	0	0	0	0	2	0	1	2	4	0	3	2	4	2	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr8:27472227A>G	ENST00000560366.1	-	1	100	c.72T>C	c.(70-72)agT>agC	p.S24S	CLU_ENST00000316403.10_5'UTR	NM_001831.3	NP_001822.3	P10909	CLUS_HUMAN	clusterin	0					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		CGTTGTGGGCACTGGGAGGCG	0.652											OREG0018671	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	27472227	A	G	27472227	2	3	565	1	0	0	0	0	0	0	0	1	3599	156	6	3		3	CLU	8	27472227	Silent	SNP	A	TCGA-HT-7875-01A-11D-2395-08		27472227	118891795	25	48365											
FAM166B	730112	broad.mit.edu	37	chr9	35563276	35563276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatgggaggcagaagtgtgCggtggacagggggccaggct	9	5	21	6	1	0	1	0	0	0	1	0	4	0	3	1	7	1	2	1	7	2	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:35563276C>T	ENST00000399742.2	-	2	243	c.173G>A	c.(172-174)cGc>cAc	p.R58H	FAM166B_ENST00000492890.1_5'UTR	NM_001099951.2|NM_001164310.1	NP_001093421.1|NP_001157782.1	A8MTA8	F166B_HUMAN	family with sequence similarity 166, member B	58										kidney(3)|large_intestine(1)|lung(4)|ovary(1)	9						CAGAAGTGTGCGGTGGACAGG	0.617													T	35563276	C	T	35563276	3	4	565	1	0	0	0	0	1	0	0	0	5527	768	27	1	493	1	FAM166B	9	35563276	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		35563276	105650155	26	48366											
ZNF618	114991	broad.mit.edu	37	chr9	116811917	116811917	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggccaaggccaacgacgcaGgcactgtcagcaagctctgc	10	4	12	15	3	2	0	1	0	1	0	2	1	2	0	2	3	4	4	2	3	3	0			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:116811917G>A	ENST00000288466.7	+	14	2155	c.2056G>A	c.(2056-2058)Ggc>Agc	p.G686S	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Missense_Mutation_p.G779S	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						CAACGACGCAGGCACTGTCAG	0.627													A	116811917	G	A	116811917	3	1	565	1	0	0	0	0	1	0	0	0	18143	1000	35	2	2110	2	ZNF618	9	116811917	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	81248641	116811917	24401514	27	48367											
SPTAN1	6709	broad.mit.edu	37	chr9	131388217	131388217	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctggccaactcagccgcccGcaagaagaagcttctggagg	10	6	12	13	2	3	2	1	0	2	2	3	3	3	3	3	3	3	2	3	3	4	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:131388217G>A	ENST00000358161.5	+	48	6352	c.6239G>A	c.(6238-6240)cGc>cAc	p.R2080H	SPTAN1_ENST00000372739.3_Missense_Mutation_p.R2080H|SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2075H			Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2075					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						TCAGCCGCCCGCAAGAAGAAG	0.617													A	131388217	G	A	131388217	3	1	565	1	0	0	0	0	1	0	0	0	15213	1087	38	1	6425	1	SPTAN1	9	131388217	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	14576300	131388217	9825214	28	48368											
NOTCH1	4851	broad.mit.edu	37	chr9	139412381	139412381	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgcccgcatgctcgcaggGgttggcacctggcgagggca	5	7	16	13	3	0	0	0	0	0	0	1	1	0	0	2	5	2	6	2	5	0	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr9:139412381G>A	ENST00000277541.6	-	8	1339	c.1264C>T	c.(1264-1266)Ccc>Tcc	p.P422S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	422	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.P422S(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCTCGCAGGGGTTGGCACCT	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139412381	G	A	139412381	3	1	565	1	0	0	0	0	1	0	0	0	10623	1232	43	2	6511	2	NOTCH1	9	139412381	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	8024164	139412381	1801050	29	48369											
PRPF18	8559	broad.mit.edu	37	chr10	13655742	13655744	+	Splice_Site	DEL	TTC	TTC	-																															ttacccatcctttcaacagtTtcttcttggcgtttgggcta																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr10:13655742_13655744delTTC	ENST00000378572.3	+	7	741_743	c.581_583delTTC	c.(580-585)tttctt>ttt	p.L196del		NM_003675.3	NP_003666.1	Q99633	PRP18_HUMAN	pre-mRNA processing factor 18	196					mRNA processing|RNA splicing	nuclear speck|spliceosomal complex				central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(5)|prostate(1)	17						TTTCAACAGTTTCTTCTTGGCGT	0.429													-	13655744	TTC	-	13655742	8	5	565	1	0	1	0	1	0	0	1	0	12649	1855	64	0	607	0	PRPF18	10	13655742	Splice_Site	DEL	TTC	TCGA-HT-7875-01A-11D-2395-08		13655742	121879005	30	48370											
OR5D18	219438	broad.mit.edu	37	chr11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctttttattagctgtgatgGcctatgaccgcttcgtggcc	5	15	10	11	2	0	2	0	2	0	0	1	2	0	2	4	2	1	2	4	2	3	6			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453													A	55587463	G	A	55587463	3	1	565	1	0	0	0	0	1	0	0	0	11233	1203	42	2	360	2	OR5D18	11	55587463	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08		55587463	79419053	31	48371											
OR1S1	219959	broad.mit.edu	37	chr11	57982884	57982884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttatcagttatcatcttccCctttacactcagcttctttt	7	20	2	12	0	5	0	3	0	2	0	6	0	6	0	2	0	2	2	2	0	3	9			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:57982884C>T	ENST00000309433.6	+	1	668	c.668C>T	c.(667-669)cCc>cTc	p.P223L		NM_001004458.1	NP_001004458.1	Q8NH92	OR1S1_HUMAN	olfactory receptor, family 1, subfamily S, member 1	223					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(24)|kidney(1)|large_intestine(1)|liver(1)|lung(10)|prostate(1)|skin(2)|stomach(3)|urinary_tract(3)	48		Breast(21;0.0589)				ATCATCTTCCCCTTTACACTC	0.443													T	57982884	C	T	57982884	3	4	565	1	0	0	0	0	1	0	0	0	11048	623	22	2	670	2	OR1S1	11	57982884	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2395421	57982884	77023632	32	48372											
FUT4	2526	broad.mit.edu	37	chr11	94278274	94278274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctaccgggcggactcggaCgtctttgtgccttatggcta	5	12	12	12	4	1	0	0	0	1	0	3	2	2	2	3	4	2	1	3	4	3	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:94278274C>T	ENST00000358752.2	+	1	1258	c.975C>T	c.(973-975)gaC>gaT	p.D325D		NM_002033.3	NP_002024.1	P22083	FUT4_HUMAN	fucosyltransferase 4 (alpha (1,3) fucosyltransferase, myeloid-specific)	325					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane|membrane fraction	alpha(1,3)-fucosyltransferase activity			central_nervous_system(2)|endometrium(2)|lung(1)|skin(2)|upper_aerodigestive_tract(1)	8		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CGGACTCGGACGTCTTTGTGC	0.647													T	94278274	C	T	94278274	2	4	565	1	0	0	0	0	0	0	0	1	6158	535	19	1		1	FUT4	11	94278274	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08	36295390	94278274	40728242	33	48373											
TRPC6	7225	broad.mit.edu	37	chr11	101342947	101342947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcgtaacattatagactCcataaagaacgtaaccaatg	17	9	5	10	2	0	2	0	0	0	2	2	2	1	2	3	0	3	2	3	0	8	5			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:101342947C>A	ENST00000344327.3	-	8	2550	c.2126G>T	c.(2125-2127)gGa>gTa	p.G709V	TRPC6_ENST00000532133.1_Missense_Mutation_p.G631V|TRPC6_ENST00000360497.4_Missense_Mutation_p.G654V|TRPC6_ENST00000348423.4_Missense_Mutation_p.G593V	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	709					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		ATTATAGACTCCATAAAGAAC	0.328													A	101342947	C	A	101342947	3	1	565	1	0	0	0	0	1	0	0	0	16684	855	30	4	693	4	TRPC6	11	101342947	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	7064673	101342947	33663569	34	48374											
NCAM1	4684	broad.mit.edu	37	chr11	113126648	113126649	+	Frame_Shift_Del	DEL	CT	CT	-																															cagatgggagaggatggaaaCtctattaaagtgaacctgat																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:113126648_113126649delCT	ENST00000316851.7	+	14	1848_1849	c.1848_1849delCT	c.(1846-1851)aactctfs	p.S617fs	NCAM1_ENST00000533760.1_Frame_Shift_Del_p.S499fs|NCAM1_ENST00000397957.4_3'UTR	NM_001242607.1|NM_181351.4	NP_001229536.1|NP_851996.2	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	627	Fibronectin type-III 2.				axon guidance|interferon-gamma-mediated signaling pathway	anchored to membrane|extracellular region|Golgi membrane|integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		AGGATGGAAACTCTATTAAAGT	0.5													-	113126649	CT	-	113126648	7	5	565	1	0	1	0	1	0	0	0	0	10278	564	20	0	2054	0	NCAM1	11	113126648	Frame_Shift_Del	DEL	CT	TCGA-HT-7875-01A-11D-2395-08	11783701	113126648	21879868	35	48375											
PHLDB1	23187	broad.mit.edu	37	chr11	118499068	118499068	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacttctccctgacgctggGggcacggggccgtaggacac	6	6	16	13	3	1	1	0	1	1	0	2	3	1	3	2	6	0	3	2	6	1	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr11:118499068G>A	ENST00000361417.2	+	7	1940	c.1529G>A	c.(1528-1530)gGg>gAg	p.G510E	PHLDB1_ENST00000356063.5_Missense_Mutation_p.G510E	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	510										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		CTGACGCTGGGGGCACGGGGC	0.662													A	118499068	G	A	118499068	3	1	565	1	0	0	0	0	1	0	0	0	11928	1232	43	2	1547	2	PHLDB1	11	118499068	Missense_Mutation	SNP	G	TCGA-HT-7875-01A-11D-2395-08	5372420	118499068	16507448	36	48376											
TAS2R13	50838	broad.mit.edu	37	chr12	11061883	11061883	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagagtgaagatactcggCagggcactttccatgtcaga	13	8	11	9	1	1	4	1	1	0	3	3	4	2	4	1	2	1	2	1	2	3	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:11061883C>T	ENST00000390677.2	-	1	278	c.15G>A	c.(13-15)ctG>ctA	p.L5L	PRR4_ENST00000536668.1_Intron	NM_023920.2	NP_076409.1	Q9NYV9	T2R13_HUMAN	taste receptor, type 2, member 13	5					sensory perception of taste	integral to membrane	taste receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|skin(1)	9						AGATACTCGGCAGGGCACTTT	0.383													T	11061883	C	T	11061883	2	4	565	1	0	0	0	0	0	0	0	1	15664	697	25	2		2	TAS2R13	12	11061883	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		11061883	122790012	37	48377											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860093	42860093	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatgatatacctctgtccTcccaggaccgtttcacactc	8	13	5	15	1	3	1	2	1	1	0	6	2	5	2	4	1	1	1	4	1	2	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:42860093T>A	ENST00000455697.1	-	6	963	c.678A>T	c.(676-678)ggA>ggT	p.G226G	PRICKLE1_ENST00000548696.1_Silent_p.G226G|PRICKLE1_ENST00000445766.2_Silent_p.G226G|PRICKLE1_ENST00000552240.1_Silent_p.G226G|PRICKLE1_ENST00000345127.3_Silent_p.G226G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	226	LIM zinc-binding 2.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		ACCTCTGTCCTCCCAGGACCG	0.488													A	42860093	T	A	42860093	2	1	565	1	0	0	0	0	0	0	0	1	12572	1538	54	5		5	PRICKLE1	12	42860093	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08	31798210	42860093	90991802	38	48378											
DCTN2	10540	broad.mit.edu	37	chr12	57928086	57928086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacccacttagccagggcGccatcggggtcggtaaggtt	7	8	15	11	3	0	0	0	0	0	0	2	0	0	0	3	6	2	3	3	6	3	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr12:57928086G>A	ENST00000548249.1	-	6	780	c.513C>T	c.(511-513)ggC>ggT	p.G171G	DCTN2_ENST00000434715.3_Silent_p.G176G|DCTN2_ENST00000543672.1_Silent_p.G176G|DCTN2_ENST00000537439.1_Silent_p.G148G	NM_001261412.1|NM_001261413.1	NP_001248341.1|NP_001248342.1	Q13561	DCTN2_HUMAN	dynactin 2 (p50)	171					cell proliferation|G2/M transition of mitotic cell cycle|mitosis	centrosome|cytosol|dynactin complex|dynein complex|kinetochore|membrane|microtubule|vesicle	motor activity|protein binding			endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|upper_aerodigestive_tract(2)	11						TAGCCAGGGCGCCATCGGGGT	0.562													A	57928086	G	A	57928086	2	1	565	1	0	0	0	0	0	0	0	1	4341	1074	38	1		1	DCTN2	12	57928086	Silent	SNP	G	TCGA-HT-7875-01A-11D-2395-08	15067993	57928086	75923809	39	48379											
ZMYM2	7750	broad.mit.edu	37	chr13	20577051	20577052	+	Frame_Shift_Del	DEL	TT	TT	-																															aaacaaccaggggtggactcTttatcaccagtggcctcact																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr13:20577051_20577052delTT	ENST00000382869.3	+	4	1160_1161	c.909_910delTT	c.(907-912)tctttafs	p.L304fs	ZMYM2_ENST00000382871.2_Frame_Shift_Del_p.L304fs|ZMYM2_ENST00000382881.3_Frame_Shift_Del_p.L217fs|ZMYM2_ENST00000382874.2_Frame_Shift_Del_p.L304fs	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	304				L -> V (in Ref. 4; CAB66556).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGGTGGACTCTTTATCACCAGT	0.421													-	20577052	TT	-	20577051	7	5	565	1	0	1	0	1	0	0	0	0	17801	1596	56	0	915	0	ZMYM2	13	20577051	Frame_Shift_Del	DEL	TT	TCGA-HT-7875-01A-11D-2395-08		20577051	94592827	40	48380											
GPR68	8111	broad.mit.edu	37	chr14	91700786	91700786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaggatgccctggtaggaCgccagcagcaggcagatggg	9	4	17	11	2	0	1	0	0	0	1	0	3	0	3	2	5	3	5	2	5	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr14:91700786C>T	ENST00000535815.1	-	2	949	c.609G>A	c.(607-609)gcG>gcA	p.A203A	GPR68_ENST00000238699.3_Silent_p.A213A|GPR68_ENST00000531499.2_Silent_p.A203A	NM_001177676.1	NP_001171147.1	Q15743	OGR1_HUMAN	G protein-coupled receptor 68	203					inflammatory response	integral to plasma membrane	G-protein coupled receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	8		all_cancers(154;0.0555)		COAD - Colon adenocarcinoma(157;0.21)		CCTGGTAGGACGCCAGCAGCA	0.652													T	91700786	C	T	91700786	2	4	565	1	0	0	0	0	0	0	0	1	6761	523	19	1		1	GPR68	14	91700786	Silent	SNP	C	TCGA-HT-7875-01A-11D-2395-08		91700786	15648754	41	48381											
TCF12	6938	broad.mit.edu	37	chr15	57526268	57526269	+	Frame_Shift_Del	DEL	CA	CA	-																															agggaatgctgctggaagctCacagacaggtgatgcacttg																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57526268_57526269delCA	ENST00000267811.5	+	12	1302_1303	c.998_999delCA	c.(997-999)tcafs	p.S333fs	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S333fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.S97fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S163fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S333fs|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S163fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S329fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S333fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	333					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GCTGGAAGCTCACAGACAGGTG	0.356			T	TEC	extraskeletal myxoid chondrosarcoma								-	57526269	CA	-	57526268	7	5	565	1	0	1	0	1	0	0	0	0	15787	838	29	0	1113	0	TCF12	15	57526268	Frame_Shift_Del	DEL	CA	TCGA-HT-7875-01A-11D-2395-08		57526268	45005124	42	48382											
TCF12	6938	broad.mit.edu	37	chr15	57565414	57565416	+	In_Frame_Del	DEL	TCA	TCA	-																															caaacaaaactccttattctTcatcaagccgtggcagtcat																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr15:57565414_57565416delTCA	ENST00000267811.5	+	18	2164_2166	c.1860_1862delTCA	c.(1858-1863)cttcat>ctt	p.H621del	TCF12_ENST00000559703.1_In_Frame_Del_p.H278del|TCF12_ENST00000559710.1_In_Frame_Del_p.H255del|TCF12_ENST00000333725.5_In_Frame_Del_p.H645del|TCF12_ENST00000537840.1_In_Frame_Del_p.H385del|TCF12_ENST00000343827.3_In_Frame_Del_p.H451del|TCF12_ENST00000438423.2_In_Frame_Del_p.H645del|TCF12_ENST00000543579.1_In_Frame_Del_p.H475del|TCF12_ENST00000452095.2_In_Frame_Del_p.H641del|TCF12_ENST00000557843.1_In_Frame_Del_p.H621del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	621	Helix-loop-helix motif.				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCCTTATTCTTCATCAAGCCGTG	0.448			T	TEC	extraskeletal myxoid chondrosarcoma								-	57565416	TCA	-	57565414	7	5	565	1	0	1	0	1	0	0	0	0	15787	1770	62	0	2075	0	TCF12	15	57565414	In_Frame_Del	DEL	TCA	TCGA-HT-7875-01A-11D-2395-08	39146	57565414	44965978	43	48383											
ITGAL	3683	broad.mit.edu	37	chr16	30485546	30485546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgagctacaacctggacgtgCggggcgcgcggagcttctcc	6	6	15	14	6	1	0	0	0	1	0	2	3	1	2	2	4	5	2	2	4	2	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30485546C>T	ENST00000356798.6	+	2	271	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	ITGAL_ENST00000358164.5_Missense_Mutation_p.R31W|ITGAL_ENST00000454514.2_Missense_Mutation_p.R31W|ITGAL_ENST00000433423.2_Missense_Mutation_p.R31W	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	31					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTGGACGTGCGGGGCGCGCG	0.706													T	30485546	C	T	30485546	3	4	565	1	0	0	0	0	1	0	0	0	7944	759	27	1	97	1	ITGAL	16	30485546	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		30485546	59869207	44	48384											
ZNF689	115509	broad.mit.edu	37	chr16	30616099	30616101	+	In_Frame_Del	DEL	GAG	GAG	-																															gccggtgactgaccaggcgaGaggaggaggagaagcgccgc																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:30616099_30616101delGAG	ENST00000287461.3	-	3	1324_1326	c.987_989delCTC	c.(985-990)tcctct>tct	p.329_330SS>S	RP11-146F11.5_ENST00000563540.1_RNA|ZNF689_ENST00000566673.1_5'UTR	NM_138447.1	NP_612456.1	Q96CS4	ZN689_HUMAN	zinc finger protein 689	329					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(1)	14			Colorectal(24;0.198)			GACCAGGCGAGAGGAGGAGGAGA	0.7													-	30616101	GAG	-	30616099	7	5	565	1	0	1	0	1	0	0	0	0	18195	942	33	0	517	0	ZNF689	16	30616099	In_Frame_Del	DEL	GAG	TCGA-HT-7875-01A-11D-2395-08	130553	30616099	59738654	45	48385											
BCMO1	53630	broad.mit.edu	37	chr16	81324040	81324040	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaaagctttacggaattggCccgtgcctctgttgatgtcg	8	12	11	10	3	1	1	0	1	1	0	2	2	1	2	2	2	3	2	2	2	4	4			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr16:81324040C>T	ENST00000258168.2	+	11	1963	c.1502C>T	c.(1501-1503)gCc>gTc	p.A501V	BCMO1_ENST00000425577.2_Missense_Mutation_p.A432V	NM_017429.2	NP_059125.2	Q9HAY6	BCDO1_HUMAN	beta-carotene 15,15'-monooxygenase 1	501					retinoid metabolic process|steroid metabolic process	cytosol	beta-carotene 15,15'-monooxygenase activity|metal ion binding|monooxygenase activity			breast(2)|endometrium(1)|large_intestine(4)|lung(9)|prostate(3)|skin(3)|stomach(1)	23						ACGGAATTGGCCCGTGCCTCT	0.458													T	81324040	C	T	81324040	3	4	565	1	0	0	0	0	1	0	0	0	1389	739	26	2	1544	2	BCMO1	16	81324040	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	50707941	81324040	9030713	46	48386											
MED1	5469	broad.mit.edu	37	chr17	37565972	37565972	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcagctggatcagtgtaTggattttcattattgttagt	10	17	10	4	0	3	1	3	0	0	1	3	3	3	3	0	2	1	3	0	2	3	6			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:37565972T>A	ENST00000300651.6	-	17	2725	c.2502A>T	c.(2500-2502)ccA>ccT	p.P834P	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	834	Interaction with ESR1.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GATCAGTGTATGGATTTTCAT	0.433										HNSCC(31;0.082)			A	37565972	T	A	37565972	2	1	565	1	0	0	0	0	0	0	0	1	9500	1451	51	5		5	MED1	17	37565972	Silent	SNP	T	TCGA-HT-7875-01A-11D-2395-08		37565972	43629238	47	48387											
SMURF2	64750	broad.mit.edu	37	chr17	62574689	62574689	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccttgttgcgttgtccTctgttctgtaaaattaataa	8	17	8	8	1	2	0	0	0	2	0	3	0	3	0	2	1	1	4	2	1	4	7			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr17:62574689T>C	ENST00000262435.9	-	9	965	c.778A>G	c.(778-780)Agg>Ggg	p.R260G	SMURF2_ENST00000578200.1_Intron	NM_022739.3	NP_073576.1	Q9HAU4	SMUF2_HUMAN	SMAD specific E3 ubiquitin protein ligase 2	260	WW 2.				BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of transforming growth factor beta receptor signaling pathway|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent SMAD protein catabolic process	cytosol|membrane raft|nucleus|plasma membrane|ubiquitin ligase complex	identical protein binding|SMAD binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)|skin(4)	22	Breast(5;1.32e-14)		BRCA - Breast invasive adenocarcinoma(8;9.88e-12)			TGCGTTGTCCTCTGTTCTGTA	0.373													C	62574689	T	C	62574689	3	2	565	1	0	0	0	0	1	0	0	0	14914	1550	54	3	1512	3	SMURF2	17	62574689	Missense_Mutation	SNP	T	TCGA-HT-7875-01A-11D-2395-08	25008717	62574689	18620521	48	48388											
CIC	23152	broad.mit.edu	37	chr19	42796331	42796331	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggacccacctctcagcctCagaaggtcctgttgccctcc	6	9	8	18	0	2	1	2	0	1	1	5	2	4	2	6	2	2	1	6	2	1	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796331C>T	ENST00000572681.2	+	13	5775	c.5707C>T	c.(5707-5709)Cag>Tag	p.Q1903*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q994*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q994*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	994					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.Q994*(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCTCAGCCTCAGAAGGTCCT	0.662			"Mis, F, S"		oligodendroglioma								T	42796331	C	T	42796331	4	4	565	1	0	0	0	0	0	1	0	0	3454	827	29	2	3026	2	CIC	19	42796331	Nonsense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		42796331	16332652	49	48389											
CIC	23152	broad.mit.edu	37	chr19	42796905	42796906	+	Frame_Shift_Del	DEL	TG	TG	-																															cccccaagcctggtctacacTgtggccaccagcacaacccc																										TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:42796905_42796906delTG	ENST00000572681.2	+	15	6155_6156	c.6087_6088delTG	c.(6085-6090)actgtgfs	p.V2030fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1122fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1121fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1122					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTCTACACTGTGGCCACCAG	0.668			"Mis, F, S"		oligodendroglioma								-	42796906	TG	-	42796905	7	5	565	1	0	1	0	1	0	0	0	0	3454	1567	55	0	3417	0	CIC	19	42796905	Frame_Shift_Del	DEL	TG	TCGA-HT-7875-01A-11D-2395-08	574	42796905	16332078	50	48390											
CBLC	23624	broad.mit.edu	37	chr19	45281321	45281321	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgagtcccccttcgctgCgggacctgctgccccgcaca	4	7	11	19	4	0	1	0	1	0	0	2	2	1	2	6	1	3	3	6	1	0	1			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr19:45281321C>T	ENST00000270279.3	+	1	196	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	CBLC_ENST00000341505.4_Missense_Mutation_p.R45W	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	45	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				CCCTTCGCTGCGGGACCTGCT	0.746			M		AML								T	45281321	C	T	45281321	3	4	565	1	0	0	0	0	1	0	0	0	2728	759	27	1	135	1	CBLC	19	45281321	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	2484416	45281321	13847662	51	48391											
BAGE2	85319	broad.mit.edu	37	chr21	11038807	11038807	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagttttttggagtgacTgagatgtaagttgttggcat	8	16	13	4	0	0	2	0	2	0	1	0	4	0	3	1	2	1	5	1	2	1	6			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr21:11038807T>A	ENST00000470054.1	-	0	1396									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTGGAGTGACTGAGATGTAAG	0.428													A	11038807	T	A	11038807	1	1	565	0	1	0	0	0	0	0	0	0	1297	1595	55	5		5	BAGE2	21	11038807	RNA	SNP	T	TCGA-HT-7875-01A-11D-2395-08		11038807	37091088	52	48392											
SMARCB1	6598	broad.mit.edu	37	chr22	24176338	24176338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttccaggcggatgaggCgtcttgccaacacggccccg	6	7	12	16	4	2	1	0	1	2	0	3	2	3	2	5	4	2	0	5	4	1	2			TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:24176338C>T	ENST00000344921.6	+	9	1363	c.1156C>T	c.(1156-1158)Cgt>Tgt	p.R386C	SMARCB1_ENST00000263121.7_Missense_Mutation_p.R377C|SMARCB1_ENST00000407082.3_Missense_Mutation_p.R331C|SMARCB1_ENST00000407422.3_Missense_Mutation_p.R368C			Q12824	SNF5_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1	377					cell cycle|chromatin remodeling|DNA integration|interspecies interaction between organisms|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|retroviral genome replication|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleolus|nucleoplasm|SWI/SNF complex	p53 binding	p.?(2)|p.L266_*386del(1)		bone(4)|central_nervous_system(198)|endometrium(4)|haematopoietic_and_lymphoid_tissue(25)|kidney(3)|large_intestine(5)|liver(2)|lung(5)|meninges(5)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|soft_tissue(194)	458		Medulloblastoma(6;2.2e-09)|all_neural(6;2.73e-05)				GCGGATGAGGCGTCTTGCCAA	0.647			"D, N, F, S"		malignant rhabdoid	malignant rhabdoid							T	24176338	C	T	24176338	3	4	565	1	0	0	0	0	1	0	0	0	14868	768	27	1	1163	1	SMARCB1	22	24176338	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08		24176338	27128228	53	48393											
XPNPEP3	63929	broad.mit.edu	37	chr22	41322384	41322384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcacctctcatcctttctgCagactgtcccaaagagatga	10	11	6	14	0	3	3	2	1	2	2	6	4	5	3	3	0	1	1	3	0	1	1	rs144166618		TCGA-HT-7875-01A-11D-2395-08	TCGA-HT-7875-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4c82b3e-cb3a-4e3b-8805-09887d6cf639	3b415304-5b67-40c9-96a3-45e5731b194c	g.chr22:41322384C>T	ENST00000357137.4	+	10	1553	c.1469C>T	c.(1468-1470)gCa>gTa	p.A490V	XPNPEP3_ENST00000544094.1_Missense_Mutation_p.A467V	NM_022098.3	NP_071381.1	Q9NQH7	XPP3_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 3, putative	490					cellular process	mitochondrion	aminopeptidase activity|manganese ion binding|metallopeptidase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	17						ATCCTTTCTGCAGACTGTCCC	0.498													T	41322384	C	T	41322384	3	4	565	1	0	0	0	0	1	0	0	0	17546	710	25	2	1507	2	XPNPEP3	22	41322384	Missense_Mutation	SNP	C	TCGA-HT-7875-01A-11D-2395-08	17146046	41322384	9982182	54	48394											
GPR25	2848	broad.mit.edu	37	chr1	200842872	200842872	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgacggccgccgcacgtggGtcgggcccggaggaactcgc	5	3	18	15	8	0	0	0	0	0	0	2	3	0	2	3	5	1	1	3	5	1	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr1:200842872G>T	ENST00000304244.2	+	1	790	c.707G>T	c.(706-708)gGt>gTt	p.G236V		NM_005298.2	NP_005289.2	O00155	GPR25_HUMAN	G protein-coupled receptor 25	236						integral to plasma membrane				large_intestine(1)|lung(2)|ovary(1)|skin(1)	5						CCGCACGTGGGTCGGGCCCGG	0.682													T	200842872	G	T	200842872	3	4	566	1	0	0	0	0	1	0	0	0	6737	1261	44	4	709	4	GPR25	1	200842872	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		200842872	48407749	1	48395											
SNRNP200	23020	broad.mit.edu	37	chr2	96959095	96959116	+	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TAGAAAGGTGGCTACATCTTCA	-																															cccttggcagggtcaacacgTagaaaggtggctacatcttc																										TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:96959095_96959116delTAGAAAGGTGGCTACATCTTCA	ENST00000323853.5	-	15	2051_2072	c.1974_1995delTGAAGATGTAGCCACCTTTCTA	c.(1972-1995)tatgaagatgtagccacctttctafs	p.YEDVATFL658fs	SNRNP200_ENST00000349783.5_Intron	NM_014014.4	NP_054733.2	O75643	U520_HUMAN	small nuclear ribonucleoprotein 200kDa (U5)	658	Helicase ATP-binding 1.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(18)|lung(37)|ovary(7)|prostate(4)|skin(5)|stomach(1)|urinary_tract(1)	90						GGTCAACACGTAGAAAGGTGGCTACATCTTCATAGTTGGGTA	0.495													-	96959116	TAGAAAGGTGGCTACATCTTCA	-	96959095	7	5	566	1	0	1	0	1	0	0	0	0	14946	1625	57	0	4539	0	SNRNP200	2	96959095	Frame_Shift_Del	DEL	TAGAAAGGTGGCTACATCTTCA	TCGA-HT-7877-01A-11D-2395-08		96959095	146240278	2	48396											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	566	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	112154017	209113112	34086261	3	48397											
NIPAL1	152519	broad.mit.edu	37	chr4	48037778	48037778	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagccagtttacaaacatccGctggtctttgttttgctggc	8	14	9	10	1	1	0	0	0	1	0	2	0	2	0	2	2	4	4	2	2	3	5			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr4:48037778G>T	ENST00000295461.5	+	6	888	c.822G>T	c.(820-822)ccG>ccT	p.P274P		NM_207330.1	NP_997213.1	Q6NVV3	NIPA3_HUMAN	NIPA-like domain containing 1	274						integral to membrane				endometrium(2)|large_intestine(1)|lung(3)|skin(2)	8						ACAAACATCCGCTGGTCTTTG	0.428													T	48037778	G	T	48037778	2	4	566	1	0	0	0	0	0	0	0	1	10500	1074	38	4		4	NIPAL1	4	48037778	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		48037778	143116498	4	48398											
AARS2	57505	broad.mit.edu	37	chr6	44270856	44270856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcttgggaggctgggtcCaatgcatgggccacgggcac	6	6	18	11	2	0	0	0	0	0	0	1	1	1	1	2	6	1	4	2	6	1	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr6:44270856C>T	ENST00000244571.4	-	16	2204	c.2202G>A	c.(2200-2202)ttG>ttA	p.L734L	RP11-444E17.6_ENST00000505802.1_Intron|TMEM151B_ENST00000438774.2_Intron	NM_020745.3	NP_065796	Q5JTZ9	SYAM_HUMAN	alanyl-tRNA synthetase 2, mitochondrial	734					alanyl-tRNA aminoacylation	mitochondrion	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(2)|stomach(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		L-Alanine(DB00160)	AGGCTGGGTCCAATGCATGGG	0.627													T	44270856	C	T	44270856	2	4	566	1	0	0	0	0	0	0	0	1	20	593	21	2		2	AARS2	6	44270856	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		44270856	126844211	5	48399											
IDE	3416	broad.mit.edu	37	chr10	94333744	94333744	+	Frame_Shift_Del	DEL	G	G	-																															cggaaggtgctgggcagtgcGgggtgcagaagccacgctag																										TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr10:94333744delG	ENST00000265986.6	-	1	89	c.33delC	c.(31-33)cccfs	p.P11fs		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	11					beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGGGCAGTGCGGGGTGCAGAA	0.716													-	94333744	G	-	94333744	7	5	566	1	0	1	0	1	0	0	0	0	7551	1103	39	0	3126	0	IDE	10	94333744	Frame_Shift_Del	DEL	G	TCGA-HT-7877-01A-11D-2395-08		94333744	41201003	6	48400											
ARHGDIB	397	broad.mit.edu	37	chr12	15095522	15095522	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggtcttgcttgtcatcGtcggtgaagaaggacttgtt	7	14	14	6	2	2	2	1	1	1	1	4	3	2	3	0	4	1	2	0	4	2	4			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:15095522G>A	ENST00000228945.4	-	6	684	c.540C>T	c.(538-540)gaC>gaT	p.D180D	ARHGDIB_ENST00000541546.1_Silent_p.D180D|ARHGDIB_ENST00000541644.1_Silent_p.D180D|ARHGDIB_ENST00000539131.1_5'UTR	NM_001175.4	NP_001166.3	P52566	GDIR2_HUMAN	Rho GDP dissociation inhibitor (GDI) beta	180					actin cytoskeleton organization|cellular component movement|immune response|multicellular organismal development|negative regulation of cell adhesion|regulation of small GTPase mediated signal transduction|Rho protein signal transduction	cytoplasmic membrane-bounded vesicle|cytoskeleton|cytosol	GTPase activator activity|Rho GDP-dissociation inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	15						GCTTGTCATCGTCGGTGAAGA	0.567													A	15095522	G	A	15095522	2	1	566	1	0	0	0	0	0	0	0	1	894	1136	40	1		1	ARHGDIB	12	15095522	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		15095522	118756373	7	48401											
MYO1A	4640	broad.mit.edu	37	chr12	57423554	57423554	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacgattgaccttcttcacGgcctctgccatcagaacagg	9	9	8	15	2	4	2	2	1	2	1	4	3	4	2	4	2	2	0	4	2	1	3			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr12:57423554G>A	ENST00000442789.2	-	26	2981	c.2694C>T	c.(2692-2694)gcC>gcT	p.A898A	MYO1A_ENST00000544473.1_Silent_p.A736A|MYO1A_ENST00000300119.3_Silent_p.A898A	NM_001256041.1	NP_001242970.1	Q9UBC5	MYO1A_HUMAN	myosin IA	898					sensory perception of sound|vesicle localization	brush border|cortical actin cytoskeleton|filamentous actin|lateral plasma membrane|microvillus|myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(7)|urinary_tract(3)	50						CCTTCTTCACGGCCTCTGCCA	0.587													A	57423554	G	A	57423554	2	1	566	1	0	0	0	0	0	0	0	1	10144	1103	39	1		1	MYO1A	12	57423554	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	42328032	57423554	76428341	8	48402											
FARP1	10160	broad.mit.edu	37	chr13	99076871	99076871	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagattaccaaagaatcggCgatgtcatgctgaagaacat	16	8	10	7	2	1	4	1	1	0	3	2	6	1	4	1	1	3	1	1	1	5	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr13:99076871C>T	ENST00000376586.2	+	17	2208	c.1872C>T	c.(1870-1872)ggC>ggT	p.G624G	FARP1_ENST00000595437.1_Silent_p.G624G|FARP1_ENST00000319562.6_Silent_p.G624G			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	624	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			AAAGAATCGGCGATGTCATGC	0.502													T	99076871	C	T	99076871	2	4	566	1	0	0	0	0	0	0	0	1	5725	755	27	1		1	FARP1	13	99076871	Silent	SNP	C	TCGA-HT-7877-01A-11D-2395-08		99076871	16093007	9	48403											
PLCB2	5330	broad.mit.edu	37	chr15	40590542	40590542	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagagagcagcacctggCggtacatctcagccgaggag	11	4	14	12	2	1	1	1	0	1	1	2	4	1	2	3	3	5	3	3	3	1	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:40590542C>T	ENST00000260402.3	-	11	1286	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	PLCB2_ENST00000456256.2_Missense_Mutation_p.R346H|PLCB2_ENST00000557821.1_Missense_Mutation_p.R346H	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	346	PI-PLC X-box.				activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		CAGCACCTGGCGGTACATCTC	0.627													T	40590542	C	T	40590542	3	4	566	1	0	0	0	0	1	0	0	0	12105	768	27	1	2608	1	PLCB2	15	40590542	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		40590542	61940850	10	48404											
SPTBN5	51332	broad.mit.edu	37	chr15	42178327	42178327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggttctgggcttggagtgCtgtctgtagccggaagagca	6	10	17	8	2	2	1	0	0	2	1	2	3	2	3	1	4	3	5	1	4	2	3			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr15:42178327C>T	ENST00000320955.6	-	7	1353	c.1126G>A	c.(1126-1128)Gca>Aca	p.A376T		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	376					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GCTTGGAGTGCTGTCTGTAGC	0.667													T	42178327	C	T	42178327	3	4	566	1	0	0	0	0	1	0	0	0	15218	797	28	2	10146	2	SPTBN5	15	42178327	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	1587785	42178327	60353065	11	48405											
PER1	5187	broad.mit.edu	37	chr17	8047060	8047060	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggggtgggccagggggTggagggtggcacgggtgagg	4	6	27	4	1	0	1	0	1	0	0	0	2	0	2	1	11	0	1	1	11	0	0			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:8047060T>G	ENST00000317276.4	-	19	2833	c.2596A>C	c.(2596-2598)Acc>Ccc	p.T866P	PER1_ENST00000578089.1_5'UTR|PER1_ENST00000581082.1_Missense_Mutation_p.T843P	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	866	Pro-rich.				circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity	p.T866P(1)		breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGCCAGGGGGTGGAGGGTGGC	0.667			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					G	8047060	T	G	8047060	3	3	566	1	0	0	0	0	1	0	0	0	11805	1696	59	5	1296	5	PER1	17	8047060	Missense_Mutation	SNP	T	TCGA-HT-7877-01A-11D-2395-08		8047060	73148150	12	48406											
VPS25	84313	broad.mit.edu	37	chr17	40926665	40926665	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccttaaccttaaaccaggAaagcttcctgtggagtcgat	11	11	8	11	1	0	0	0	0	0	0	3	3	2	2	4	2	3	1	4	2	4	3			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr17:40926665A>G	ENST00000253794.2	+	3	241	c.201A>G	c.(199-201)cgA>cgG	p.R67R		NM_032353.2	NP_115729.1	Q9BRG1	VPS25_HUMAN	vacuolar protein sorting 25 homolog (S. cerevisiae)	67					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endosome membrane|nucleoplasm				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)	5		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0745)		TTAAACCAGGAAAGCTTCCTG	0.453													G	40926665	A	G	40926665	5	3	566	1	0	0	0	0	0	0	1	0	17298	260	9	3	211	3	VPS25	17	40926665	Splice_Site	SNP	A	TCGA-HT-7877-01A-11D-2395-08	32879605	40926665	40268545	13	48407											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	10	5	13	13	3	0	2	0	1	0	1	2	4	1	3	4	4	2	0	4	4	2	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								T	42791715	C	T	42791715	3	4	566	1	0	0	0	0	1	0	0	0	3454	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		42791715	16337268	14	48408											
TPTE	7179	broad.mit.edu	37	chr21	10906911	10906911	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggggagctatacttaatcGgatccagctacaacatcact	13	9	9	10	1	1	0	1	0	0	0	3	2	2	2	1	3	5	2	1	3	5	4			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr21:10906911G>A	ENST00000298232.7	-	23	1963	c.1596C>T	c.(1594-1596)tcC>tcT	p.S532S	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Silent_p.S512S|TPTE_ENST00000361285.4_Silent_p.S550S	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	550	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.S550S(1)|p.S532S(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ATACTTAATCGGATCCAGCTA	0.398													A	10906911	G	A	10906911	2	1	566	1	0	0	0	0	0	0	0	1	16531	1103	39	1		1	TPTE	21	10906911	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08		10906911	37222984	15	48409											
BAGE2	85319	broad.mit.edu	37	chr21	11098920	11098920	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctcagcgggagataccAgagaccctaaactggcgtga	12	5	13	11	2	1	3	1	1	0	2	1	5	1	3	2	2	4	2	2	2	3	2	rs78230864		TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr21:11098920A>G	ENST00000470054.1	-	0	5									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		gggagataccagagaccctaa	0.572													G	11098920	A	G	11098920	1	3	566	0	1	0	0	0	0	0	0	0	1297	203	7	3		3	BAGE2	21	11098920	RNA	SNP	A	TCGA-HT-7877-01A-11D-2395-08	192009	11098920	37030975	16	48410											
NOL12	79159	broad.mit.edu	37	chr22	38087302	38087302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtaccagcaaggcccagCgccgccgtctcacaggcaaa	10	4	10	17	4	1	0	1	0	1	0	3	0	1	0	4	2	3	3	4	2	3	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chr22:38087302C>T	ENST00000359114.4	+	6	671	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	201						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAAGGCCCAGCGCCGCCGTCT	0.632													T	38087302	C	T	38087302	3	4	566	1	0	0	0	0	1	0	0	0	10598	768	27	1	623	1	NOL12	22	38087302	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08		38087302	13217264	17	48411											
ARHGEF9	23229	broad.mit.edu	37	chrX	62893977	62893977	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatattctctaaacgtcGcttgcgttcgttgatctgct	7	16	8	10	4	3	1	1	1	2	0	6	1	3	1	0	0	3	4	0	0	4	6			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:62893977G>A	ENST00000253401.6	-	6	1665	c.865C>T	c.(865-867)Cga>Tga	p.R289*	ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000433323.2_Nonsense_Mutation_p.R60*|ARHGEF9_ENST00000374878.1_Nonsense_Mutation_p.R287*|ARHGEF9_ENST00000374870.4_Nonsense_Mutation_p.R187*|ARHGEF9_ENST00000374872.1_Nonsense_Mutation_p.R268*|ARHGEF9_ENST00000437457.2_Nonsense_Mutation_p.R236*	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	289					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R287*(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TCTAAACGTCGCTTGCGTTCG	0.458													A	62893977	G	A	62893977	4	1	566	1	0	0	0	0	0	1	0	0	915	1095	38	1	705	1	ARHGEF9	23	62893977	Nonsense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08		62893977	92376583	18	48412											
RAB33A	9363	broad.mit.edu	37	chrX	129306042	129306042	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggtccgggggagatggcGcagcccatcctgggccatgg	5	7	17	12	3	0	1	0	0	0	1	3	2	2	1	4	6	1	1	4	6	0	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:129306042G>A	ENST00000257017.4	+	1	420	c.6G>A	c.(4-6)gcG>gcA	p.A2A		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	2					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GGGAGATGGCGCAGCCCATCC	0.692													A	129306042	G	A	129306042	2	1	566	1	0	0	0	0	0	0	0	1	13010	1074	38	1		1	RAB33A	23	129306042	Silent	SNP	G	TCGA-HT-7877-01A-11D-2395-08	66412065	129306042	25964518	19	48413											
MAMLD1	10046	broad.mit.edu	37	chrX	149638921	149638921	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgccaccaccaccaccccCattcagcccccagagcctca	10	4	4	23	0	2	1	2	0	0	1	2	1	2	1	9	0	3	0	9	0	0	1			TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:149638921C>G	ENST00000370401.2	+	4	1386	c.1076C>G	c.(1075-1077)cCa>cGa	p.P359R	MAMLD1_ENST00000432680.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.P334R|MAMLD1_ENST00000262858.5_Missense_Mutation_p.P359R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	359	Poly-Pro.		P -> S (in dbSNP:rs41313406).		male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ccaccacccccaTTCAGCCCC	0.612													G	149638921	C	G	149638921	3	3	566	1	0	0	0	0	1	0	0	0	9283	594	21	4	1086	4	MAMLD1	23	149638921	Missense_Mutation	SNP	C	TCGA-HT-7877-01A-11D-2395-08	20332879	149638921	5631639	20	48414											
PASD1	139135	broad.mit.edu	37	chrX	150817142	150817144	+	In_Frame_Del	DEL	GCT	GCT	-																															aagccgtgtacgttgaacccGctgctgctgctgctgctgct																										TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:150817142_150817144delGCT	ENST00000370357.4	+	9	930_932	c.685_687delGCT	c.(685-687)gctdel	p.A236del		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	236	Poly-Ala.					nucleus	signal transducer activity	p.A229A(2)		breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					CGTTGAACCCgctgctgctgctg	0.433													-	150817144	GCT	-	150817142	7	5	566	1	0	1	0	1	0	0	0	0	11547	1087	38	0	715	0	PASD1	23	150817142	In_Frame_Del	DEL	GCT	TCGA-HT-7877-01A-11D-2395-08	1178221	150817142	4453418	21	48415											
G6PD	2539	broad.mit.edu	37	chrX	153762634	153762634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggtcctcacggaacagggagGagatgtggttggacagccgg	9	6	18	8	2	1	1	1	0	0	1	2	5	2	4	2	7	2	1	2	7	1	1	rs5030868	byFrequency	TCGA-HT-7877-01A-11D-2395-08	TCGA-HT-7877-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a6dc115c-4c2c-4f45-bc8b-09bb9562cdce	44355458-1ec3-4e6b-bae8-e1a7642e03ce	g.chrX:153762634G>A	ENST00000393562.2	-	6	1036	c.653C>T	c.(652-654)tCc>tTc	p.S218F	G6PD_ENST00000369620.2_Missense_Mutation_p.S188F|G6PD_ENST00000393564.2_Missense_Mutation_p.S188F	NM_000402.3	NP_000393.4	P11413	G6PD_HUMAN	glucose-6-phosphate dehydrogenase	188					cellular response to oxidative stress|cholesterol biosynthetic process|cytokine production|erythrocyte maturation|glucose 6-phosphate metabolic process|glutathione metabolic process|negative regulation of protein glutathionylation|pentose-phosphate shunt, oxidative branch|ribose phosphate biosynthetic process	centrosome|cytosol|internal side of plasma membrane|intracellular membrane-bounded organelle	glucose binding|glucose-6-phosphate dehydrogenase activity|NADP binding|protein homodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(3)|ovary(4)	18	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GAACAGGGAGGAGATGTGGTT	0.632													A	153762634	G	A	153762634	3	1	566	1	0	0	0	0	1	0	0	0	6198	1174	41	2	1016	2	G6PD	23	153762634	Missense_Mutation	SNP	G	TCGA-HT-7877-01A-11D-2395-08	2945492	153762634	1507926	22	48416											
STAM2	10254	broad.mit.edu	37	chr2	153003685	153003685	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctctcacctgagaaccTgctggaggaaaagtaattcc	14	9	8	10	0	2	1	1	1	1	1	4	4	3	3	3	2	2	2	3	2	5	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:153003685T>C	ENST00000263904.4	-	5	787	c.438A>G	c.(436-438)gcA>gcG	p.A146A	STAM2_ENST00000465460.1_5'UTR	NM_005843.4	NP_005834.4	O75886	STAM2_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 2	146					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	protein binding			endometrium(3)|large_intestine(4)|lung(8)|ovary(1)	16				BRCA - Breast invasive adenocarcinoma(221;0.22)		CCTGAGAACCTGCTGGAGGAA	0.373													C	153003685	T	C	153003685	2	2	567	1	0	0	0	0	0	0	0	1	15345	1567	55	3		3	STAM2	2	153003685	Silent	SNP	T	TCGA-HT-7879-01A-11D-2395-08		153003685	90195688	1	48417											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	567	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08	56109427	209113112	34086261	2	48418											
TBC1D9	23158	broad.mit.edu	37	chr4	141677165	141677165	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcggtgatccacagcgcgTtggccagcaacacctcctcc	7	8	9	17	3	1	1	0	1	1	0	5	1	4	1	5	2	3	2	5	2	1	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr4:141677165T>C	ENST00000442267.2	-	1	109	c.35A>G	c.(34-36)aAc>aGc	p.N12S		NM_015130.2	NP_055945.2	Q6ZT07	TBCD9_HUMAN	TBC1 domain family, member 9 (with GRAM domain)	12						intracellular	calcium ion binding|Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	31	all_hematologic(180;0.162)	Medulloblastoma(177;0.00498)				CCACAGCGCGTTGGCCAGCAA	0.701													C	141677165	T	C	141677165	3	2	567	1	0	0	0	0	1	0	0	0	15727	1725	60	3	3849	3	TBC1D9	4	141677165	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		141677165	49477111	3	48419											
CDC20B	166979	broad.mit.edu	37	chr5	54429276	54429276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accagtaatatgaatcttcaCctctggttggagtatggaat	12	13	9	7	0	3	1	1	1	2	0	3	3	3	3	2	3	0	3	2	3	5	5			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr5:54429276C>T	ENST00000334206.5	-	6	837	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	CDC20B_ENST00000296733.1_Missense_Mutation_p.V221M|CDC20B_ENST00000322374.6_Missense_Mutation_p.V221M|CDC20B_ENST00000381375.2_Missense_Mutation_p.V221M			Q86Y33	CD20B_HUMAN	cell division cycle 20B	221										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TGAATCTTCACCTCTGGTTGG	0.368													T	54429276	C	T	54429276	3	4	567	1	0	0	0	0	1	0	0	0	3090	507	18	2	926	2	CDC20B	5	54429276	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		54429276	126485984	4	48420											
PKHD1	5314	broad.mit.edu	37	chr6	51897948	51897948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcacagtcacattcacaaTgcgtccatctttcccctgaa	11	11	5	14	1	4	1	3	1	1	0	6	2	6	1	3	0	1	0	3	0	2	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr6:51897948T>C	ENST00000371117.3	-	29	3519	c.3244A>G	c.(3244-3246)Att>Gtt	p.I1082V	PKHD1_ENST00000340994.4_Missense_Mutation_p.I1082V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1082	IPT/TIG 5.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACATTCACAATGCGTCCATCT	0.368													C	51897948	T	C	51897948	3	2	567	1	0	0	0	0	1	0	0	0	12048	1464	51	3	9175	3	PKHD1	6	51897948	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		51897948	119217119	5	48421											
DOCK4	9732	broad.mit.edu	37	chr7	111405275	111405275	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatacaaagaggcttccaTcatctagaaagcacaggaaa	17	7	8	9	0	3	2	2	0	1	2	4	3	4	3	1	2	2	2	1	2	5	3			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr7:111405275T>C	ENST00000428084.1	-	39	4191	c.3919A>G	c.(3919-3921)Atg>Gtg	p.M1307V	DOCK4_ENST00000494651.2_Missense_Mutation_p.M181V|DOCK4_ENST00000437633.1_Missense_Mutation_p.M1298V			Q8N1I0	DOCK4_HUMAN	dedicator of cytokinesis 4	1298	DHR-2.				cell chemotaxis	cytosol|endomembrane system|membrane|stereocilium	GTP binding|guanyl-nucleotide exchange factor activity|PDZ domain binding|Rac GTPase activator activity|Rac GTPase binding|receptor tyrosine kinase binding|SH3 domain binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(13)|lung(31)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(4)	72		Acute lymphoblastic leukemia(1;0.0441)				GAGGCTTCCATCATCTAGAAA	0.313													C	111405275	T	C	111405275	3	2	567	1	0	0	0	0	1	0	0	0	4728	1435	50	3	2068	3	DOCK4	7	111405275	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		111405275	47733388	6	48422											
CACNB2	783	broad.mit.edu	37	chr10	18690025	18690025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgaagaattctgataTctgtgtaagcgcaagggctt	12	11	12	6	1	2	3	0	2	2	1	2	3	2	3	0	2	1	4	0	2	6	4			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr10:18690025T>C	ENST00000377315.4	+	1	284	c.65T>C	c.(64-66)aTc>aCc	p.I22T	CACNB2_ENST00000377331.2_Intron|CACNB2_ENST00000352115.6_Intron|CACNB2_ENST00000377329.4_Intron|CACNB2_ENST00000377328.1_Intron|CACNB2_ENST00000282343.8_Intron|CACNB2_ENST00000396576.2_Intron|CACNB2_ENST00000377319.3_Intron|CACNB2_ENST00000324631.7_Intron	NM_201570.2	NP_963864.1	Q08289	CACB2_HUMAN	calcium channel, voltage-dependent, beta 2 subunit	0					axon guidance|neuromuscular junction development	integral to plasma membrane|sarcolemma|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|stomach(2)	31					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	AATTCTGATATCTGTGTAAGC	0.507													C	18690025	T	C	18690025	3	2	567	1	0	0	0	0	1	0	0	0	2579	1435	50	3	435	3	CACNB2	10	18690025	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		18690025	116844722	7	48423											
GAD2	2572	broad.mit.edu	37	chr10	26589805	26589805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacaaggtcaatttcttccGcatggtcatctcaaacccag	12	10	7	12	1	4	1	3	0	2	1	6	1	5	1	2	2	1	1	2	2	3	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr10:26589805G>A	ENST00000376261.3	+	16	2176	c.1673G>A	c.(1672-1674)cGc>cAc	p.R558H	GAD2_ENST00000259271.3_Missense_Mutation_p.R558H	NM_001134366.1	NP_001127838.1	Q05329	DCE2_HUMAN	glutamate decarboxylase 2 (pancreatic islets and brain, 65kDa)	558					glutamate decarboxylation to succinate|neurotransmitter biosynthetic process|neurotransmitter secretion	cell junction|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|Golgi membrane|presynaptic membrane	glutamate decarboxylase activity|protein binding|pyridoxal phosphate binding			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(26)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	48					L-Glutamic Acid(DB00142)	AATTTCTTCCGCATGGTCATC	0.463													A	26589805	G	A	26589805	3	1	567	1	0	0	0	0	1	0	0	0	6232	1087	38	1	1735	1	GAD2	10	26589805	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08	7899780	26589805	108944942	8	48424											
CACNA1H	8912	broad.mit.edu	37	chr16	1265549	1265549	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agctgctgaagatggctacgGgcatgcgcgccctgctggac	7	7	15	12	3	0	2	0	1	0	1	0	3	0	3	1	3	5	5	1	3	2	1			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr16:1265549G>A	ENST00000348261.5	+	30	5448	c.5200G>A	c.(5200-5202)Ggc>Agc	p.G1734S	CACNA1H_ENST00000358590.4_Missense_Mutation_p.G1728S|CACNA1H_ENST00000565831.1_Missense_Mutation_p.G1728S	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1734					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.G1734C(1)|p.G1728C(1)		breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GATGGCTACGGGCATGCGCGC	0.721													A	1265549	G	A	1265549	3	1	567	1	0	0	0	0	1	0	0	0	2571	1232	43	2	5314	2	CACNA1H	16	1265549	Missense_Mutation	SNP	G	TCGA-HT-7879-01A-11D-2395-08		1265549	89089204	9	48425											
TP53	7157	broad.mit.edu	37	chr17	7577150	7577151	+	Frame_Shift_Del	DEL	TT	TT	-																															agctgttccgtcccagtagaTtaccactactcaggatagga																								rs72661119		TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7577150_7577151delTT	ENST00000420246.2	-	8	919_920	c.787_788delAA	c.(787-789)aatfs	p.N263fs	TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.N263fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.N263fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N263fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	263	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		GN -> PD (in a sporadic cancer; somatic mutation).|N -> D (in sporadic cancers; somatic mutation).|N -> H (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (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.0?(8)|p.N263fs*82(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.N263D(2)|p.N263I(2)|p.G262_S269delGNLLGRNS(2)|p.N263H(2)|p.N263fs*5(1)|p.E258fs*71(1)|p.S261_L264>R(1)|p.N263fs*84(1)|p.G262fs*2(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)		TCCCAGTAGATTACCACTACTC	0.52		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)			-	7577151	TT	-	7577150	7	5	567	1	0	1	0	1	0	0	0	0	16482	1493	52	0	498	0	TP53	17	7577150	Frame_Shift_Del	DEL	TT	TCGA-HT-7879-01A-11D-2395-08		7577150	73618060	10	48426											
TP53	7157	broad.mit.edu	37	chr17	7578271	7578271	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttccactcggataagaTgctgaggaggggccagacct	9	9	12	11	1	0	3	0	1	0	2	3	5	2	5	4	4	1	1	4	4	1	3			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr17:7578271T>A	ENST00000420246.2	-	6	710	c.578A>T	c.(577-579)cAt>cTt	p.H193L	TP53_ENST00000445888.2_Missense_Mutation_p.H193L|TP53_ENST00000359597.4_Missense_Mutation_p.H193L|TP53_ENST00000269305.4_Missense_Mutation_p.H193L|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.H193L|TP53_ENST00000455263.2_Missense_Mutation_p.H193L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	193	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in LFS; germline mutation and in sporadic cancers; somatic mutation).|H -> Y (in sporadic cancers; somatic mutation).|QH -> HN (in a sporadic cancer; somatic mutation).|QH -> HY (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.H193R(80)|p.H193L(42)|p.H193P(18)|p.0?(8)|p.?(6)|p.H61R(4)|p.H100R(4)|p.H100L(4)|p.H61L(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.H193fs*16(3)|p.P191fs*53(2)|p.H61P(2)|p.H100P(2)|p.A189fs*53(1)|p.P191fs*6(1)|p.H193_I195delHLI(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P98_E105>Q(1)|p.H193_I195>AP(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)		TCGGATAAGATGCTGAGGAGG	0.562		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)			A	7578271	T	A	7578271	3	1	567	1	0	0	0	0	1	0	0	0	16482	1464	51	5	716	5	TP53	17	7578271	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08	1121	7578271	73616939	11	48427											
MLLT1	4298	broad.mit.edu	37	chr19	6270683	6270683	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcggggccgcggacaaacaCcatccagtcgtgagtgaacc	10	5	12	14	4	0	2	0	2	0	0	3	3	1	3	4	3	2	0	4	3	2	0			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr19:6270683C>A	ENST00000252674.7	-	2	263	c.100G>T	c.(100-102)Gtg>Ttg	p.V34L		NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1	34	YEATS.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|protein binding			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						CGGACAAACACCATCCAGTCG	0.622			T	MLL	AL						OREG0025198	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	6270683	C	A	6270683	3	1	567	1	0	0	0	0	1	0	0	0	9700	507	18	4	1623	4	MLLT1	19	6270683	Missense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		6270683	52858300	12	48428											
MYL9	10398	broad.mit.edu	37	chr20	35177631	35177631	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccgcatcctcaaacatggCgccaaggataaagacgacta	15	5	8	13	3	1	1	1	0	0	1	2	3	2	2	3	2	1	1	3	2	5	2			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr20:35177631C>T	ENST00000279022.2	+	4	602	c.498C>T	c.(496-498)ggC>ggT	p.G166G	MYL9_ENST00000346786.2_Silent_p.G112G|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	166	EF-hand 3.				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				TCAAACATGGCGCCAAGGATA	0.602													T	35177631	C	T	35177631	2	4	567	1	0	0	0	0	0	0	0	1	10130	755	27	1		1	MYL9	20	35177631	Silent	SNP	C	TCGA-HT-7879-01A-11D-2395-08		35177631	27847889	13	48429											
EWSR1	2130	broad.mit.edu	37	chr22	29694857	29694857	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaaacgtccagcacCgagctggagactggcagtgt	11	5	16	9	2	0	1	0	0	0	1	1	6	1	3	2	4	3	3	2	4	1	0			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chr22:29694857C>T	ENST00000397938.2	+	14	1871	c.1552C>T	c.(1552-1554)Cga>Tga	p.R518*	EWSR1_ENST00000414183.2_Nonsense_Mutation_p.R523*|EWSR1_ENST00000332035.6_Nonsense_Mutation_p.R462*|EWSR1_ENST00000332050.6_Nonsense_Mutation_p.R445*|EWSR1_ENST00000406548.1_Nonsense_Mutation_p.R517*|EWSR1_ENST00000331029.7_Nonsense_Mutation_p.R480*	NM_001163285.1|NM_001163286.1|NM_005243.3|NM_013986.3	NP_001156757.1|NP_001156758.1|NP_005234.1|NP_053733.2	Q01844	EWS_HUMAN	EWS RNA-binding protein 1	518					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	calmodulin binding|nucleotide binding|RNA binding|zinc ion binding		EWSR1/ATF1(347)|EWSR1/POU5F1(10)|EWSR1/PBX1(3)|EWSR1/DDIT3(45)|EWSR1/FEV(11)|EWSR1/CREB1(44)|EWSR1/SMARCA5(2)|EWSR1/ETV4(6)|EWSR1/ERG(178)|EWSR1/ZNF384(4)|EWSR1/ETV1(7)|EWSR1/FLI1(2569)|EWSR1/NR4A3(146)|EWSR1/SP3(3)|EWSR1/PATZ1(2)|EWSR1/WT1(234)|EWSR1/NFATC2(9)	breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						CGTCCAGCACCGAGCTGGAGA	0.602			T	"FLI1, ERG, ZNF278, NR4A3, FEV, ATF1, ETV1, ETV4, WT1, ZNF384, CREB1, POU5F1,  PBX1"	"Ewing sarcoma,  desmoplastic small round cell tumor , ALL, clear cell sarcoma, sarcoma, myoepithelioma"								T	29694857	C	T	29694857	4	4	567	1	0	0	0	0	0	1	0	0	5337	644	23	1	1723	1	EWSR1	22	29694857	Nonsense_Mutation	SNP	C	TCGA-HT-7879-01A-11D-2395-08		29694857	21609709	14	48430											
OGT	8473	broad.mit.edu	37	chrX	70767813	70767813	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcagtagcttggagtaaTcttggctgtgttttcaatgc	7	17	11	6	0	2	0	1	0	1	0	2	1	2	1	0	2	3	6	0	2	3	7			TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:70767813T>G	ENST00000373719.3	+	5	805	c.588T>G	c.(586-588)aaT>aaG	p.N196K	OGT_ENST00000373701.3_Missense_Mutation_p.N186K	NM_181672.2|NM_181673.2	NP_858058.1|NP_858059.1	O15294	OGT1_HUMAN	O-linked N-acetylglucosamine (GlcNAc) transferase	196					cellular response to retinoic acid|positive regulation of granulocyte differentiation|positive regulation of histone H3-K4 methylation|positive regulation of proteolysis|protein O-linked glycosylation|signal transduction	cytosol|MLL5-L complex	enzyme activator activity|protein binding|protein N-acetylglucosaminyltransferase activity	p.N196K(1)|p.N186K(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|liver(3)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Renal(35;0.156)					CTTGGAGTAATCTTGGCTGTG	0.378													G	70767813	T	G	70767813	3	3	567	1	0	0	0	0	1	0	0	0	10923	1432	50	5	606	5	OGT	23	70767813	Missense_Mutation	SNP	T	TCGA-HT-7879-01A-11D-2395-08		70767813	84502747	15	48431											
ATRX	546	broad.mit.edu	37	chrX	76938001	76938001	+	Frame_Shift_Del	DEL	G	G	-																															tatcgacaccatcagtggaaGcacttgcttgctgcttctta																										TCGA-HT-7879-01A-11D-2395-08	TCGA-HT-7879-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d315e0c-c20e-4f62-ae8b-42bdd9dbe053	826113c1-03bb-49be-82f0-e1dd43ec6cbc	g.chrX:76938001delG	ENST00000373344.5	-	9	2961	c.2747delC	c.(2746-2748)gctfs	p.A916fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.A878fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	916					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)	ATCAGTGGAAGCACTTGCTTG	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938001	G	-	76938001	7	5	567	1	0	1	0	1	0	0	0	0	1213	971	34	0	4839	0	ATRX	23	76938001	Frame_Shift_Del	DEL	G	TCGA-HT-7879-01A-11D-2395-08	6170188	76938001	78332559	16	48432											
TRIM33	51592	broad.mit.edu	37	chr1	114968295	114968295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaggaacttgcccaactaCaacattaggagtataaccag	15	8	9	9	0	0	0	0	0	0	0	0	3	0	3	2	3	6	1	2	3	7	5			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr1:114968295C>T	ENST00000358465.2	-	9	1554	c.1471G>A	c.(1471-1473)Gta>Ata	p.V491I	TRIM33_ENST00000369543.2_Missense_Mutation_p.V491I|TRIM33_ENST00000450349.2_Missense_Mutation_p.V99I	NM_015906.3	NP_056990.3	Q9UPN9	TRI33_HUMAN	tripartite motif containing 33	491					negative regulation of BMP signaling pathway|negative regulation of transcription, DNA-dependent|protein ubiquitination|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	nucleus	co-SMAD binding|DNA binding|ligase activity|R-SMAD binding|zinc ion binding			breast(2)|central_nervous_system(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	48	all_epithelial(7;0.000132)|all_lung(7;0.00106)|Lung SC(450;0.184)	all_cancers(81;3.03e-08)|all_epithelial(167;3.24e-08)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGCCCAACTACAACATTAGGA	0.368			T	RET	papillary thyroid								T	114968295	C	T	114968295	3	4	568	1	0	0	0	0	1	0	0	0	16608	478	17	2	1960	2	TRIM33	1	114968295	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		114968295	134282326	1	48433											
PTPN14	5784	broad.mit.edu	37	chr1	214557534	214557534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttaagcatgtgggccGtgctgtagttatggctgccc	6	13	13	9	1	1	0	0	0	1	0	1	0	1	0	2	2	3	6	2	2	3	4			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr1:214557534G>A	ENST00000366956.5	-	13	1858	c.1664C>T	c.(1663-1665)aCg>aTg	p.T555M	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	555					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CATGTGGGCCGTGCTGTAGTT	0.637													A	214557534	G	A	214557534	3	1	568	1	0	0	0	0	1	0	0	0	12869	1145	40	1	1927	1	PTPN14	1	214557534	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08	99589239	214557534	34693087	2	48434											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	568	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		209113112	34086261	3	48435											
TMEM198	130612	broad.mit.edu	37	chr2	220412578	220412578	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccccgcccactcaccAccctggccaccgccgtgact	5	5	9	22	3	1	1	1	1	0	0	1	1	1	1	8	2	0	1	8	2	0	0			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr2:220412578A>C	ENST00000344458.2	+	4	1102	c.517A>C	c.(517-519)Acc>Ccc	p.T173P	TMEM198_ENST00000373883.3_Missense_Mutation_p.T173P			Q66K66	TM198_HUMAN	transmembrane protein 198	173	Leu-rich.					integral to membrane				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	16		Renal(207;0.0376)		Epithelial(149;6.49e-08)|all cancers(144;6.45e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		CCCACTCACCACCCTGGCCAC	0.697													C	220412578	A	C	220412578	3	2	568	1	0	0	0	0	1	0	0	0	16219	159	6	5	523	5	TMEM198	2	220412578	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	11299466	220412578	22786795	4	48436											
SEMA3B	7869	broad.mit.edu	37	chr3	50311108	50311108	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgggtatggggttggggAggggggcagcggcgcagact	6	6	24	5	2	0	1	0	0	0	1	0	3	0	2	0	9	1	4	0	9	1	2			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr3:50311108A>G	ENST00000418948.1	+	0	1156							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GGGGTTGGGGAGGGGGGCAGC	0.701											OREG0015583	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	50311108	A	G	50311108	1	3	568	0	1	0	0	0	0	0	0	0	14118	319	11	3		3	SEMA3B	3	50311108	RNA	SNP	A	TCGA-HT-7880-01A-11D-2395-08		50311108	147711322	5	48437											
PCDHB2	56133	broad.mit.edu	37	chr5	140476767	140476767	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaagagctttgaattcaCttaagtgttaataaggatct	14	13	9	5	0	2	2	1	1	1	1	2	4	2	4	0	2	1	2	0	2	5	5	rs461653		TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr5:140476767C>G	ENST00000194155.4	+	1	2541	c.2393C>G	c.(2392-2394)aCt>aGt	p.T798S		NM_018936.2	NP_061759.1	Q9Y5E7	PCDB2_HUMAN		798					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(22)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTTGAATTCACTTAAGTGTTA	0.423													G	140476767	C	G	140476767	3	3	568	1	0	0	0	0	1	0	0	0	11618	565	20	4	2395	4	PCDHB2	5	140476767	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		140476767	40438493	6	48438											
POM121	9883	broad.mit.edu	37	chr7	72413479	72413479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcagccaccgggggccGccaagccggcccttgccccc	5	2	15	19	3	0	0	0	0	0	0	0	0	0	0	8	5	3	1	8	5	1	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr7:72413479G>A	ENST00000395270.1	+	14	3193	c.2152G>A	c.(2152-2154)Gcc>Acc	p.A718T	POM121_ENST00000446813.1_Missense_Mutation_p.A718T|POM121_ENST00000257622.4_Missense_Mutation_p.A718T|POM121_ENST00000434423.2_Missense_Mutation_p.A983T|POM121_ENST00000358357.3_Missense_Mutation_p.A718T	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	983	Pore side (Potential).				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				ACCGGGGGCCGCCAAGCCGGC	0.652													A	72413479	G	A	72413479	3	1	568	1	0	0	0	0	1	0	0	0	12316	1087	38	1	2190	1	POM121	7	72413479	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		72413479	86725184	7	48439											
PKN3	29941	broad.mit.edu	37	chr9	131475882	131475882	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaatgcctgtcaccaactGtccctcagcctggtaccgca	9	8	8	16	1	2	0	2	0	0	0	3	1	3	0	5	1	4	2	5	1	3	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr9:131475882G>C	ENST00000291906.4	+	9	1590	c.1197G>C	c.(1195-1197)ctG>ctC	p.L399L		NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	399					signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GTCACCAACTGTCCCTCAGCC	0.632													C	131475882	G	C	131475882	2	2	568	1	0	0	0	0	0	0	0	1	12058	1364	48	4		4	PKN3	9	131475882	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08		131475882	9737549	8	48440											
SPOCK2	9806	broad.mit.edu	37	chr10	73827431	73827431	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggagttctcatgaaggaGctggaaccagtcccgcagcc	9	8	12	12	1	1	1	1	1	1	0	3	4	2	4	3	3	3	3	3	3	2	2			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr10:73827431G>T	ENST00000373109.2	-	7	1093	c.649C>A	c.(649-651)Ctc>Atc	p.L217I	SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Missense_Mutation_p.L217I|SPOCK2_ENST00000536168.1_Missense_Mutation_p.L217I	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	217					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						TCATGAAGGAGCTGGAACCAG	0.607													T	73827431	G	T	73827431	3	4	568	1	0	0	0	0	1	0	0	0	15176	971	34	4	645	4	SPOCK2	10	73827431	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		73827431	61707316	9	48441											
KRTAP5-2	440021	broad.mit.edu	37	chr11	1619378	1619378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagagccacagcccccacGgccggagccacagcccccac	9	0	10	22	2	0	1	0	0	0	1	0	2	0	2	8	2	4	0	8	2	0	0	rs138454470	byFrequency	TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr11:1619378G>A	ENST00000412090.1	-	1	146	c.103C>T	c.(103-105)Cgt>Tgt	p.R35C	KRTAP5-AS1_ENST00000424148.1_RNA	NM_001004325.1	NP_001004325.1	Q701N4	KRA52_HUMAN	keratin associated protein 5-2	35						keratin filament				large_intestine(1)|lung(2)|skin(1)	4		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)		CAGCCCCCACGGCCGGAGCCA	0.687													A	1619378	G	A	1619378	3	1	568	1	0	0	0	0	1	0	0	0	8620	1116	39	1	434	1	KRTAP5-2	11	1619378	Missense_Mutation	SNP	G	TCGA-HT-7880-01A-11D-2395-08		1619378	133387138	10	48442											
FOXJ2	55810	broad.mit.edu	37	chr12	8200558	8200560	+	In_Frame_Del	DEL	CAG	CAG	-																															agcagccaccgccacctcaaCagcagcagcagcagcagcag																										TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr12:8200558_8200560delCAG	ENST00000162391.3	+	7	2043_2045	c.898_900delCAG	c.(898-900)cagdel	p.Q306del	FOXJ2_ENST00000428177.2_In_Frame_Del_p.Q306del	NM_018416.2	NP_060886.1	Q9P0K8	FOXJ2_HUMAN	forkhead box J2	306	Poly-Gln.				embryo development|organ development|pattern specification process|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|tissue development	nucleolus|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein domain specific binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding			autonomic_ganglia(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	16				Kidney(36;0.0944)		gccacctcaacagcagcagcagc	0.64													-	8200560	CAG	-	8200558	7	5	568	1	0	1	0	1	0	0	0	0	6063	479	17	0	920	0	FOXJ2	12	8200558	In_Frame_Del	DEL	CAG	TCGA-HT-7880-01A-11D-2395-08		8200558	125651337	11	48443											
ALX1	8092	broad.mit.edu	37	chr12	85677519	85677519	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatgtatccagcagtaagaaAcggaggcaccgaaccacctt	15	6	9	11	2	0	1	0	0	0	1	1	3	1	2	4	2	3	4	4	2	5	3			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr12:85677519A>T	ENST00000316824.3	+	2	551	c.396A>T	c.(394-396)aaA>aaT	p.K132N		NM_006982.2	NP_008913.2	Q15699	ALX1_HUMAN	ALX homeobox 1	132					brain development|cartilage condensation|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(16)|ovary(1)	26				GBM - Glioblastoma multiforme(134;0.134)		GCAGTAAGAAACGGAGGCACC	0.478													T	85677519	A	T	85677519	3	4	568	1	0	0	0	0	1	0	0	0	556	40	2	5	402	5	ALX1	12	85677519	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	77476961	85677519	48174376	12	48444											
MYO1E	4643	broad.mit.edu	37	chr15	59445849	59445849	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcgtctgtgacactCggtctgaactggtagactgc	6	12	12	11	2	3	3	0	2	3	1	5	3	3	3	0	3	2	1	0	3	2	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr15:59445849C>A	ENST00000288235.4	-	26	3419	c.3020G>T	c.(3019-3021)cGa>cTa	p.R1007L		NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE	1007					actin filament-based movement	myosin complex	actin binding|ATP binding|ATPase activity, coupled|calmodulin binding|microfilament motor activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		CTGTGACACTCGGTCTGAACT	0.592													A	59445849	C	A	59445849	3	1	568	1	0	0	0	0	1	0	0	0	10148	884	31	4	318	4	MYO1E	15	59445849	Missense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08		59445849	43085543	13	48445											
FAH	2184	broad.mit.edu	37	chr15	80452128	80452128	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagcttcatgggcctgggtCaggctgcctggaaggaggcg	7	7	17	10	1	2	0	2	0	0	0	2	2	2	2	2	6	2	2	2	6	1	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr15:80452128C>T	ENST00000539156.1	+	2	2251	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	FAH_ENST00000407106.1_Nonsense_Mutation_p.Q75*|FAH_ENST00000261755.5_Nonsense_Mutation_p.Q75*|FAH_ENST00000561421.1_Nonsense_Mutation_p.Q75*			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	75					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGGCCTGGGTCAGGCTGCCTG	0.527									Tyrosinemia, type 1				T	80452128	C	T	80452128	4	4	568	1	0	0	0	0	0	1	0	0	5416	827	29	2	233	2	FAH	15	80452128	Nonsense_Mutation	SNP	C	TCGA-HT-7880-01A-11D-2395-08	21006279	80452128	22079264	14	48446											
TP53	7157	broad.mit.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	7	8	14	12	2	1	0	1	0	0	0	2	3	2	2	4	4	3	2	4	4	1	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:7577545T>C	ENST00000420246.2	-	7	868	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; 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.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)		CTCCGGTTCATGCCGCCCATG	0.577		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)			C	7577545	T	C	7577545	3	2	568	1	0	0	0	0	1	0	0	0	16482	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		7577545	73617665	15	48447											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															agctcgagttctggttactcTgtttgattctcggcatttac																										TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29562660	TGTT	-	29562657	7	5	568	1	0	1	0	1	0	0	0	0	10432	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-7880-01A-11D-2395-08	21985112	29562657	51632553	16	48448											
KAT2A	2648	broad.mit.edu	37	chr17	40269492	40269492	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagccccacgagccacagCaacacccgccggttggcctt	8	5	10	18	3	0	0	0	0	0	0	0	1	0	0	6	2	5	3	6	2	1	2			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chr17:40269492C>T	ENST00000225916.5	-	10	1604	c.1551G>A	c.(1549-1551)ttG>ttA	p.L517L		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	517	N-acetyltransferase.				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGAGCCACAGCAACACCCGCC	0.647													T	40269492	C	T	40269492	2	4	568	1	0	0	0	0	0	0	0	1	8039	709	25	2		2	KAT2A	17	40269492	Silent	SNP	C	TCGA-HT-7880-01A-11D-2395-08	10706835	40269492	40925718	17	48449											
ATRX	546	broad.mit.edu	37	chrX	76937900	76937900	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttacatgttttggtttTgagatgcttgctcttttctt	4	25	7	5	0	2	1	0	1	2	1	2	2	2	1	0	1	3	4	0	1	1	11			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76937900T>A	ENST00000373344.5	-	9	3062	c.2848A>T	c.(2848-2850)Aaa>Taa	p.K950*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.K912*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	950					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)	GTTTTGGTTTTGAGATGCTTG	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76937900	T	A	76937900	4	1	568	1	0	0	0	0	0	1	0	0	1213	1821	63	5	4738	5	ATRX	23	76937900	Nonsense_Mutation	SNP	T	TCGA-HT-7880-01A-11D-2395-08		76937900	78332660	18	48450											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	12	12	8	9	2	3	2	1	0	2	2	5	4	4	3	1	2	1	0	1	2	4	5			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:76938788G>T	ENST00000373344.5	-	9	2174	c.1960C>A	c.(1960-1962)Cga>Aga	p.R654R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.R616R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76938788	G	T	76938788	2	4	568	1	0	0	0	0	0	0	0	1	1213	1066	37	4		4	ATRX	23	76938788	Silent	SNP	G	TCGA-HT-7880-01A-11D-2395-08	888	76938788	78331772	19	48451											
AFF2	2334	broad.mit.edu	37	chrX	148037448	148037448	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagacagtgtctcaaaggAcaattgggaaaaaacagccc	16	6	11	8	0	1	1	1	1	1	1	2	4	1	3	1	2	2	0	1	2	5	1			TCGA-HT-7880-01A-11D-2395-08	TCGA-HT-7880-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a061c9f4-52fe-4b46-8e9f-0fcc76dbc1c8	8838112e-a2bd-4211-b5f9-990637c86c8c	g.chrX:148037448A>G	ENST00000370460.2	+	11	2352	c.1873A>G	c.(1873-1875)Aca>Gca	p.T625A	AFF2_ENST00000342251.3_Missense_Mutation_p.T592A|AFF2_ENST00000286437.5_Missense_Mutation_p.T266A|AFF2_ENST00000370457.5_Missense_Mutation_p.T592A	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	625					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					GTCTCAAAGGACAATTGGGAA	0.443													G	148037448	A	G	148037448	3	3	568	1	0	0	0	0	1	0	0	0	357	275	10	3	1970	3	AFF2	23	148037448	Missense_Mutation	SNP	A	TCGA-HT-7880-01A-11D-2395-08	71098660	148037448	7233112	20	48452											
PRAMEF17	391004	broad.mit.edu	37	chr1	13718582	13718582	+	Frame_Shift_Del	DEL	G	G	-																															ctctgctagagaaagttgctGctactctcgagatcctcacg																										TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr1:13718582delG	ENST00000376098.4	+	3	1071	c.1045delG	c.(1045-1047)gctfs	p.A349fs		NM_001099851.1	NP_001093321.1	Q5VTA0	PRA17_HUMAN	PRAME family member 17	349										kidney(1)|lung(2)	3	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;9.86e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|COAD - Colon adenocarcinoma(227;0.000502)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GAAAGTTGCTGCTACTCTCGA	0.547													-	13718582	G	-	13718582	7	5	569	1	0	1	0	1	0	0	0	0	12515	1319	46	0	1055	0	PRAMEF17	1	13718582	Frame_Shift_Del	DEL	G	TCGA-HT-7881-01A-11D-2395-08		13718582	235532039	1	48453											
HSPD1	3329	broad.mit.edu	37	chr2	198352636	198352636	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacaaaatctccagccatAgcatcataaccaacttctga	15	10	3	13	0	4	1	2	1	2	0	5	1	4	1	3	0	4	1	3	0	5	4			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198352636A>T	ENST00000388968.3	-	11	1782	c.1515T>A	c.(1513-1515)gcT>gcA	p.A505A	HSPD1_ENST00000345042.2_Silent_p.A505A	NM_002156.4	NP_002147.2	P10809	CH60_HUMAN	heat shock 60kDa protein 1 (chaperonin)	505					'de novo' protein folding|activation of caspase activity|B cell cytokine production|B cell proliferation|chaperone-mediated protein complex assembly|interspecies interaction between organisms|isotype switching to IgG isotypes|MyD88-dependent toll-like receptor signaling pathway|negative regulation of apoptosis|positive regulation of apoptosis|positive regulation of interferon-alpha production|positive regulation of interferon-gamma production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of macrophage activation|positive regulation of T cell activation|positive regulation of T cell mediated immune response to tumor cell|protein maturation|protein refolding|protein stabilization|response to unfolded protein|T cell activation	cell surface|coated pit|coated vesicle|cytosol|early endosome|extracellular space|lipopolysaccharide receptor complex|mitochondrial inner membrane|mitochondrial matrix|stored secretory granule	ATP binding|ATPase activity|cell surface binding|chaperone binding|DNA replication origin binding|lipopolysaccharide binding|p53 binding|single-stranded DNA binding			NS(1)|breast(3)|endometrium(2)|large_intestine(3)|lung(7)|skin(1)	17			Epithelial(96;0.225)			CTCCAGCCATAGCATCATAAC	0.348													T	198352636	A	T	198352636	2	4	569	1	0	0	0	0	0	0	0	1	7486	407	15	5		5	HSPD1	2	198352636	Silent	SNP	A	TCGA-HT-7881-01A-11D-2395-08		198352636	44846737	2	48454											
PLCL1	5334	broad.mit.edu	37	chr2	198950679	198950679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagtttatagggcaatataCgataccatttgaatgtttgc	12	15	9	5	1	0	2	0	2	0	0	0	3	0	2	1	1	3	3	1	1	7	8			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr2:198950679C>T	ENST00000428675.1	+	2	2836	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PLCL1_ENST00000437704.2_Missense_Mutation_p.T715M	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	813	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T715M(1)		autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GGGCAATATACGATACCATTT	0.443													T	198950679	C	T	198950679	3	4	569	1	0	0	0	0	1	0	0	0	12116	536	19	1	2444	1	PLCL1	2	198950679	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	598043	198950679	44248694	3	48455											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	569	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	10162433	209113112	34086261	4	48456											
ZBTB20	26137	broad.mit.edu	37	chr3	114070191	114070191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggagcacgcgtagagtgccGagtagatcctgtccacgctg	8	8	14	11	4	0	2	0	0	0	2	2	4	2	3	3	1	2	4	3	1	2	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr3:114070191G>C	ENST00000462705.1	-	11	1336	c.515C>G	c.(514-516)tCg>tGg	p.S172W	ZBTB20_ENST00000357258.3_Missense_Mutation_p.S172W|ZBTB20_ENST00000474710.1_Missense_Mutation_p.S245W|ZBTB20_ENST00000481632.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000393785.2_Missense_Mutation_p.S172W|ZBTB20_ENST00000464560.1_Missense_Mutation_p.S172W|ZBTB20_ENST00000471418.1_Missense_Mutation_p.S172W	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	245					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAGAGTGCCGAGTAGATCCT	0.672													C	114070191	G	C	114070191	3	2	569	1	0	0	0	0	1	0	0	0	17630	1059	37	4	1499	4	ZBTB20	3	114070191	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		114070191	83952239	5	48457											
MAN2B2	23324	broad.mit.edu	37	chr4	6599987	6599987	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagagacatgtacgcaacGcacctggcctcggggatgct	9	7	14	11	3	0	2	0	1	0	1	1	4	0	3	2	3	3	4	2	3	2	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr4:6599987G>A	ENST00000285599.3	+	9	1347	c.1311G>A	c.(1309-1311)acG>acA	p.T437T	MAN2B2_ENST00000504248.1_Silent_p.T386T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	437					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGTACGCAACGCACCTGGCCT	0.632													A	6599987	G	A	6599987	2	1	569	1	0	0	0	0	0	0	0	1	9292	1074	38	1		1	MAN2B2	4	6599987	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		6599987	184554289	6	48458											
CDH12	1010	broad.mit.edu	37	chr5	21975457	21975457	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catctcctgagagggtgtatTtcacagtgccctctcccttg	6	13	9	13	0	3	1	1	1	2	1	5	2	3	1	3	1	1	1	3	1	1	3			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr5:21975457T>C	ENST00000382254.1	-	6	1355	c.269A>G	c.(268-270)aAa>aGa	p.K90R	CDH12_ENST00000504376.2_Missense_Mutation_p.K90R|CDH12_ENST00000522262.1_Missense_Mutation_p.K90R	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	90	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						GAGGGTGTATTTCACAGTGCC	0.463										HNSCC(59;0.17)			C	21975457	T	C	21975457	3	2	569	1	0	0	0	0	1	0	0	0	3128	1841	64	3	2155	3	CDH12	5	21975457	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		21975457	158939803	7	48459											
TBP	6908	broad.mit.edu	37	chr6	170871094	170871094	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcagcagcagcaacaggcagt	14	1	13	13	0	0	0	0	0	0	0	0	0	0	0	0	1	11	11	0	1	1	0			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr6:170871094G>A	ENST00000392092.2	+	3	549	c.270G>A	c.(268-270)caG>caA	p.Q90Q	TBP_ENST00000230354.6_Silent_p.Q90Q|TBP_ENST00000540980.1_Silent_p.Q70Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	90	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.622													A	170871094	G	A	170871094	2	1	569	1	0	0	0	0	0	0	0	1	15744	962	34	2		2	TBP	6	170871094	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		170871094	243973	8	48460											
AHR	196	broad.mit.edu	37	chr7	17379139	17379139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaatgaaaaatttttcagaAatgatttttctggtgaggtt	14	16	9	2	0	2	5	1	3	1	2	2	5	2	5	0	2	0	1	0	2	4	5			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:17379139A>T	ENST00000242057.4	+	10	2333	c.1690A>T	c.(1690-1692)Aat>Tat	p.N564Y	AHR_ENST00000492120.1_3'UTR	NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	564					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					ATTTTTCAGAAATGATTTTTC	0.353													T	17379139	A	T	17379139	3	4	569	1	0	0	0	0	1	0	0	0	416	14	1	5	1728	5	AHR	7	17379139	Missense_Mutation	SNP	A	TCGA-HT-7881-01A-11D-2395-08		17379139	141759524	9	48461											
ZNF425	155054	broad.mit.edu	37	chr7	148801044	148801044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttttgccgcacatcacaCaagagaatggcttttggcca	12	10	8	11	1	1	1	1	0	0	1	1	2	1	1	2	2	2	2	2	2	3	4			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr7:148801044C>T	ENST00000378061.2	-	4	2051	c.1919G>A	c.(1918-1920)tGt>tAt	p.C640Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	640					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			GCACATCACACAAGAGAATGG	0.537													T	148801044	C	T	148801044	3	4	569	1	0	0	0	0	1	0	0	0	18000	478	17	2	343	2	ZNF425	7	148801044	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08	131421905	148801044	10337619	10	48462											
C10orf82	143379	broad.mit.edu	37	chr10	118424279	118424279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagccagactcactcttcatAtggtttcagatgtgccttct	9	14	7	11	0	5	2	3	0	2	2	5	2	5	2	2	1	2	1	2	1	2	4			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr10:118424279A>G	ENST00000369210.3	-	4	508	c.454T>C	c.(454-456)Tat>Cat	p.Y152H	C10orf82_ENST00000588184.1_Missense_Mutation_p.Y152H	NM_144661.2	NP_653262.1	Q8WW14	CJ082_HUMAN	chromosome 10 open reading frame 82	152										endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7				all cancers(201;0.0143)		CACTCTTCATATGGTTTCAGA	0.527													G	118424279	A	G	118424279	3	3	569	1	0	0	0	0	1	0	0	0	1631	449	16	3	18	3	C10orf82	10	118424279	Missense_Mutation	SNP	A	TCGA-HT-7881-01A-11D-2395-08		118424279	17110468	11	48463											
NUP98	4928	broad.mit.edu	37	chr11	3716782	3716782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatggtgagcagctccCggactgactggctacccaca	9	7	11	14	1	0	2	0	2	0	0	1	3	1	3	2	3	4	4	2	3	1	1	rs144659895	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr11:3716782C>T	ENST00000324932.7	-	26	4484	c.4064G>A	c.(4063-4065)cGg>cAg	p.R1355Q	NUP98_ENST00000355260.3_Missense_Mutation_p.R1355Q|NUP98_ENST00000359171.4_Missense_Mutation_p.R1355Q|NUP98_ENST00000488828.1_5'UTR	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1372					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		GAGCAGCTCCCGGACTGACTG	0.473			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								T	3716782	C	T	3716782	3	4	569	1	0	0	0	0	1	0	0	0	10849	652	23	1	1370	1	NUP98	11	3716782	Missense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		3716782	131289734	12	48464											
ADCY4	196883	broad.mit.edu	37	chr14	24788316	24788316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctcacccactcgcaggcGgaagttgttgaatgaatgct	9	11	10	11	2	2	2	1	2	1	0	4	3	2	3	1	2	1	4	1	2	3	2	rs61741640	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:24788316G>A	ENST00000310677.4	-	24	3057	c.2944C>T	c.(2944-2946)Cgc>Tgc	p.R982C	ADCY4_ENST00000554068.2_Missense_Mutation_p.R982C|ADCY4_ENST00000418030.2_Missense_Mutation_p.R982C	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	982					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTCGCAGGCGGAAGTTGTTG	0.567													A	24788316	G	A	24788316	3	1	569	1	0	0	0	0	1	0	0	0	296	1116	39	1	301	1	ADCY4	14	24788316	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08		24788316	82561224	13	48465											
ENTPD5	957	broad.mit.edu	37	chr14	74442654	74442654	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacctatgtgtatagagcTtataagtgctgttaaacatc	12	14	7	8	0	1	1	1	0	0	1	2	1	1	1	1	0	3	4	1	0	7	6			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:74442654T>C	ENST00000334696.6	-	10	1026	c.707A>G	c.(706-708)aAg>aGg	p.K236R	ENTPD5_ENST00000557325.1_Missense_Mutation_p.K236R	NM_001249.2	NP_001240.1	O75356	ENTP5_HUMAN	ectonucleoside triphosphate diphosphohydrolase 5	236					'de novo' posttranslational protein folding|ATP metabolic process|cell growth|cell proliferation|glycolysis|protein N-linked glycosylation|regulation of phosphatidylinositol 3-kinase cascade	endoplasmic reticulum lumen	guanosine-diphosphatase activity|uridine-diphosphatase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	10				BRCA - Breast invasive adenocarcinoma(234;0.00394)		TGTATAGAGCTTATAAGTGCT	0.378													C	74442654	T	C	74442654	3	2	569	1	0	0	0	0	1	0	0	0	5183	1609	56	3	607	3	ENTPD5	14	74442654	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08	49654338	74442654	32906886	14	48466											
PLD4	122618	broad.mit.edu	37	chr14	105399118	105399118	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcacctccaactggtcGgaggattacttcagcagcac	10	7	11	13	1	1	0	1	0	0	0	3	2	2	2	2	4	4	4	2	4	2	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr14:105399118G>A	ENST00000540372.1	+	11	1551	c.1359G>A	c.(1357-1359)tcG>tcA	p.S453S	PLD4_ENST00000553861.1_Silent_p.S15S|PLD4_ENST00000392593.4_Silent_p.S446S			Q96BZ4	PLD4_HUMAN	phospholipase D family, member 4	446					lipid catabolic process	integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	13		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.00067)|OV - Ovarian serous cystadenocarcinoma(23;0.00976)|Epithelial(46;0.0201)|GBM - Glioblastoma multiforme(11;0.116)		Choline(DB00122)	CCAACTGGTCGGAGGATTACT	0.736													A	105399118	G	A	105399118	2	1	569	1	0	0	0	0	0	0	0	1	12125	1103	39	1		1	PLD4	14	105399118	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	30956464	105399118	1950422	15	48467											
PKD1	5310	broad.mit.edu	37	chr16	2139950	2139950	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagacgtcctctgtggcctgGttgagtcggtcaaactgggt	6	12	14	9	2	2	2	1	1	1	1	4	2	3	2	2	4	1	1	2	4	2	2	rs148433208	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:2139950G>A	ENST00000262304.4	-	46	12898	c.12690C>T	c.(12688-12690)aaC>aaT	p.N4230N	PKD1_ENST00000423118.1_Silent_p.N4229N	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	4230					calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						CTGTGGCCTGGTTGAGTCGGT	0.687													A	2139950	G	A	2139950	2	1	569	1	0	0	0	0	0	0	0	1	12040	1252	44	2		2	PKD1	16	2139950	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		2139950	88214803	16	48468											
C16orf93	90835	broad.mit.edu	37	chr16	30770950	30770950	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggggatgggtaaagttTccagaatgttccaggggaac	10	10	15	6	0	1	1	0	0	1	1	3	3	3	3	2	5	1	3	2	5	4	3	rs62622830	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr16:30770950T>C	ENST00000541260.1	-	5	895	c.565A>G	c.(565-567)Aaa>Gaa	p.K189E	C16orf93_ENST00000543610.1_Intron|PHKG2_ENST00000563588.1_3'UTR|PHKG2_ENST00000424889.3_Intron			A1A4V9	CP093_HUMAN	chromosome 16 open reading frame 93	0										breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)	11						GGGTAAAGTTTCCAGAATGTT	0.532													C	30770950	T	C	30770950	3	2	569	1	0	0	0	0	1	0	0	0	1860	1798	62	3		3	C16orf93	16	30770950	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08	28631000	30770950	59583803	17	48469											
P2RX1	5023	broad.mit.edu	37	chr17	3801122	3801122	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagcatcaggatgtcctcaTgttctcctgcaggcccaggg	7	9	12	13	1	3	0	2	0	1	0	5	2	4	1	3	3	2	3	3	3	0	1	rs34617528	byFrequency	TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:3801122T>C	ENST00000225538.3	-	12	1460	c.1186A>G	c.(1186-1188)Atg>Gtg	p.M396V		NM_002558.2	NP_002549.1	P51575	P2RX1_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 1	396			M -> V (in dbSNP:rs34617528).		platelet activation	integral to plasma membrane	calcium channel activity|extracellular ATP-gated cation channel activity|purinergic nucleotide receptor activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	13				LUAD - Lung adenocarcinoma(2;1.9e-05)|Lung(3;0.0173)		GATGTCCTCATGTTCTCCTGC	0.647													C	3801122	T	C	3801122	3	2	569	1	0	0	0	0	1	0	0	0	11415	1464	51	3	17	3	P2RX1	17	3801122	Missense_Mutation	SNP	T	TCGA-HT-7881-01A-11D-2395-08		3801122	77394088	18	48470											
ABHD15	116236	broad.mit.edu	37	chr17	27893250	27893250	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccgcactcgcccaggtaGgacaggagcagcgccgagcc	9	2	15	15	4	0	0	0	0	0	0	1	4	0	2	4	3	4	3	4	3	1	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr17:27893250G>A	ENST00000307201.4	-	1	905	c.735C>T	c.(733-735)tcC>tcT	p.S245S	RP11-68I3.2_ENST00000581474.1_RNA	NM_198147.2	NP_937790.2	Q6UXT9	ABH15_HUMAN	abhydrolase domain containing 15	245						extracellular region	carboxylesterase activity			breast(1)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	10						CGCCCAGGTAGGACAGGAGCA	0.711													A	27893250	G	A	27893250	2	1	569	1	0	0	0	0	0	0	0	1	81	987	35	2		2	ABHD15	17	27893250	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08	24092128	27893250	53301960	19	48471											
ARHGAP33	115703	broad.mit.edu	37	chr19	36268762	36268762	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccttcccgcggctggcTgactgcgcccatttccacta	4	9	10	18	3	0	1	0	1	0	0	2	1	2	1	5	3	1	2	5	3	1	3			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:36268762T>G	ENST00000007510.4	+	3	285	c.141T>G	c.(139-141)gcT>gcG	p.A47A	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.A47A|ARHGAP33_ENST00000378944.5_5'UTR			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	47					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CGCGGCTGGCTGACTGCGCCC	0.592													G	36268762	T	G	36268762	2	3	569	1	0	0	0	0	0	0	0	1	885	1567	55	5		5	ARHGAP33	19	36268762	Silent	SNP	T	TCGA-HT-7881-01A-11D-2395-08		36268762	22860221	20	48472											
LTBP4	8425	broad.mit.edu	37	chr19	41123027	41123027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacgaatgccggaaccGgtccttctgcggtgcccacg	6	8	14	13	5	1	0	0	0	1	0	2	3	2	2	4	4	4	0	4	4	2	1	rs35089561		TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr19:41123027G>A	ENST00000308370.7	+	24	3167	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	LTBP4_ENST00000204005.9_Missense_Mutation_p.R1019Q|LTBP4_ENST00000602240.1_3'UTR|LTBP4_ENST00000545697.1_Intron|LTBP4_ENST00000396819.3_Missense_Mutation_p.R989Q|LTBP4_ENST00000243562.9_Missense_Mutation_p.R110Q	NM_001042544.1	NP_001036009.1	Q8N2S1	LTBP4_HUMAN	latent transforming growth factor beta binding protein 4	1056	Cys-rich.|EGF-like 12; calcium-binding (Potential).				growth hormone secretion|multicellular organismal development|protein folding|regulation of cell differentiation|regulation of cell growth|regulation of proteolysis|regulation of transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|glycosaminoglycan binding|integrin binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			central_nervous_system(1)	1			Lung(22;0.000158)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGCCGGAACCGGTCCTTCTGC	0.622													A	41123027	G	A	41123027	3	1	569	1	0	0	0	0	1	0	0	0	9146	1116	39	1	3554	1	LTBP4	19	41123027	Missense_Mutation	SNP	G	TCGA-HT-7881-01A-11D-2395-08	4854265	41123027	18005956	21	48473											
CD93	22918	broad.mit.edu	37	chr20	23065825	23065825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctgactcgagtccagCtggtacccttgggggcagcg	6	8	14	13	2	0	1	0	1	0	0	3	2	2	1	3	3	4	4	3	3	1	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr20:23065825C>T	ENST00000246006.4	-	1	1152	c.1005G>A	c.(1003-1005)caG>caA	p.Q335Q		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	335	EGF-like 2.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCGAGTCCAGCTGGTACCCTT	0.637													T	23065825	C	T	23065825	2	4	569	1	0	0	0	0	0	0	0	1	3077	796	28	2		2	CD93	20	23065825	Silent	SNP	C	TCGA-HT-7881-01A-11D-2395-08		23065825	39959695	22	48474											
CLDN14	23562	broad.mit.edu	37	chr21	37833827	37833827	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagatgcctgtgctgtgcCacacacactccatccagagc	9	8	10	14	0	0	2	0	0	0	2	2	2	2	2	4	1	4	2	4	1	1	1			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr21:37833827C>T	ENST00000399137.1	-	3	1033	c.167G>A	c.(166-168)tGg>tAg	p.W56*	AP000695.4_ENST00000428667.1_RNA|CLDN14_ENST00000399136.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399135.1_Nonsense_Mutation_p.W56*|CLDN14_ENST00000399139.1_Nonsense_Mutation_p.W56*|AP000695.6_ENST00000429588.1_RNA|CLDN14_ENST00000342108.2_Nonsense_Mutation_p.W56*	NM_144492.2	NP_652763.1	O95500	CLD14_HUMAN	claudin 14	56					calcium-independent cell-cell adhesion|protein complex assembly|tight junction assembly	endoplasmic reticulum|integral to membrane|tight junction	identical protein binding|structural molecule activity			endometrium(1)|lung(5)|skin(1)	7						TGTGCTGTGCCACACACACTC	0.637													T	37833827	C	T	37833827	4	4	569	1	0	0	0	0	0	1	0	0	3506	595	21	2	556	2	CLDN14	21	37833827	Nonsense_Mutation	SNP	C	TCGA-HT-7881-01A-11D-2395-08		37833827	10296068	23	48475											
SBF1	6305	broad.mit.edu	37	chr22	50898008	50898008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctgcgccagcagaccacGgggaagcggttctggcggta	7	5	16	13	5	1	1	0	0	1	1	1	2	1	2	3	5	3	4	3	5	2	2			TCGA-HT-7881-01A-11D-2395-08	TCGA-HT-7881-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cc49bdb9-54e2-4a0d-9896-cbc1dfb32e26	dc36499d-6903-4254-bbcd-e9dbc544951f	g.chr22:50898008G>A	ENST00000380817.3	-	27	3762	c.3579C>T	c.(3577-3579)ccC>ccT	p.P1193P	SBF1_ENST00000390679.3_Silent_p.P1193P|SBF1_ENST00000348911.6_Silent_p.P1194P	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1		Myotubularin phosphatase.				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)		AGCAGACCACGGGGAAGCGGT	0.677													A	50898008	G	A	50898008	2	1	569	1	0	0	0	0	0	0	0	1	13950	1103	39	1		1	SBF1	22	50898008	Silent	SNP	G	TCGA-HT-7881-01A-11D-2395-08		50898008	406558	24	48476											
TAS1R2	80834	broad.mit.edu	37	chr1	19181133	19181133	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtggtacagggtcaggtcGggcgagaacacgaccacgac	12	4	15	10	4	1	1	1	0	0	1	2	4	1	1	1	4	2	1	1	4	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:19181133G>A	ENST00000375371.3	-	3	852	c.831C>T	c.(829-831)ccC>ccT	p.P277P	RP13-279N23.2_ENST00000494072.3_3'UTR	NM_152232.2	NP_689418.2	Q8TE23	TS1R2_HUMAN	taste receptor, type 1, member 2	277					detection of chemical stimulus involved in sensory perception of sweet taste	plasma membrane	protein heterodimerization activity|taste receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(10)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(3)|stomach(1)	45		Colorectal(325;3.46e-05)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Renal(390;0.000518)|Breast(348;0.000812)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00466)|BRCA - Breast invasive adenocarcinoma(304;3.56e-05)|Kidney(64;0.000177)|KIRC - Kidney renal clear cell carcinoma(64;0.00262)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)	Aspartame(DB00168)	GGGTCAGGTCGGGCGAGAACA	0.632													A	19181133	G	A	19181133	2	1	570	1	0	0	0	0	0	0	0	1	15660	1103	39	1		1	TAS1R2	1	19181133	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		19181133	230069488	1	48477											
GLIS1	148979	broad.mit.edu	37	chr1	53995560	53995560	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtacggcttctcgccCgtgtggctcctcaggtggat	5	10	13	13	3	2	0	1	0	1	0	4	1	3	1	2	5	1	3	2	5	1	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:53995560C>T	ENST00000312233.2	-	4	1427	c.861G>A	c.(859-861)acG>acA	p.T287T		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	287					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						GCTTCTCGCCCGTGTGGCTCC	0.637													T	53995560	C	T	53995560	2	4	570	1	0	0	0	0	0	0	0	1	6501	639	23	1		1	GLIS1	1	53995560	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	34814427	53995560	195255061	2	48478											
FMO3	2328	broad.mit.edu	37	chr1	171079965	171079965	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagttccagaagtggctcCtgggtgatgagccgggtctg	7	10	15	9	1	2	3	1	2	1	1	4	3	4	3	3	3	1	2	3	3	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:171079965C>G	ENST00000367755.4	+	6	765	c.654C>G	c.(652-654)tcC>tcG	p.S218S	FMO3_ENST00000392085.2_Silent_p.S218S|FMO3_ENST00000538429.1_Silent_p.S155S|FMO3_ENST00000542847.1_Silent_p.S198S	NM_001002294.2	NP_001002294.1	P31513	FMO3_HUMAN	flavin containing monooxygenase 3	218					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity			endometrium(1)|kidney(1)|large_intestine(12)|lung(12)|skin(1)|stomach(2)|urinary_tract(2)	31	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAAGTGGCTCCTGGGTGATGA	0.473													G	171079965	C	G	171079965	2	3	570	1	0	0	0	0	0	0	0	1	6005	668	24	4		4	FMO3	1	171079965	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	117084405	171079965	78170656	3	48479											
CFH	3075	broad.mit.edu	37	chr1	196716352	196716352	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagttgaatttgtgtgtaAacggggatatcgtctttcat	10	16	10	5	2	3	1	2	1	1	0	4	2	3	2	0	2	1	2	0	2	4	5			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:196716352A>T	ENST00000367429.4	+	22	3845	c.3605A>T	c.(3604-3606)aAa>aTa	p.K1202I		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1202	Sushi 20.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TTTGTGTGTAAACGGGGATAT	0.383													T	196716352	A	T	196716352	3	4	570	1	0	0	0	0	1	0	0	0	3313	14	1	5	3709	5	CFH	1	196716352	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	25636387	196716352	52534269	4	48480											
KDM5B	10765	broad.mit.edu	37	chr1	202702739	202702739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaggcgagcaggggCagaattttctctaatggagg	11	8	17	5	1	1	2	0	1	1	1	2	5	1	4	0	6	1	2	0	6	3	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:202702739C>T	ENST00000367265.3	-	23	4863	c.3699G>A	c.(3697-3699)ctG>ctA	p.L1233L	KDM5B_ENST00000367264.2_Silent_p.L1269L	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1233					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CGAGCAGGGGCAGAATTTTCT	0.532													T	202702739	C	T	202702739	2	4	570	1	0	0	0	0	0	0	0	1	8192	697	25	2		2	KDM5B	1	202702739	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	5986387	202702739	46547882	5	48481											
OBSCN	84033	broad.mit.edu	37	chr1	228487678	228487678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgagaaaggcggcccccGtggagtggagaaaggggccc	10	3	18	10	2	0	2	0	1	0	2	0	5	0	3	3	6	1	1	3	6	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:228487678G>A	ENST00000570156.2	+	51	13644	c.13570G>A	c.(13570-13572)Gtg>Atg	p.V4524M	OBSCN_ENST00000359599.6_3'UTR|OBSCN_ENST00000366707.4_Missense_Mutation_p.V1214M|OBSCN_ENST00000366709.4_Intron|OBSCN_ENST00000602685.1_3'UTR|OBSCN_ENST00000422127.1_Intron|RP5-1139B12.4_ENST00000602778.1_RNA|OBSCN_ENST00000284548.11_Intron	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3567	Fibronectin type-III 3.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGCGGCCCCCGTGGAGTGGAG	0.557													A	228487678	G	A	228487678	3	1	570	1	0	0	0	0	1	0	0	0	10888	1160	40	1		1	OBSCN	1	228487678	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	25784939	228487678	20762943	6	48482											
OR13G1	441933	broad.mit.edu	37	chr1	247835492	247835492	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttctggaagctgtacaccatCgggtttaatgtgggagtcac	9	12	12	8	1	2	0	1	0	1	0	3	2	2	2	1	3	2	3	1	3	3	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr1:247835492C>T	ENST00000359688.2	-	1	873	c.852G>A	c.(850-852)ccG>ccA	p.P284P	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGTACACCATCGGGTTTAATG	0.438													T	247835492	C	T	247835492	2	4	570	1	0	0	0	0	0	0	0	1	11018	871	31	1		1	OR13G1	1	247835492	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	19347814	247835492	1415129	7	48483											
DPP10	57628	broad.mit.edu	37	chr2	116497433	116497433	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccctcggtttactggagcGttgtatcccaaaggaaagca	11	10	10	10	2	0	0	0	0	0	0	3	2	2	2	2	3	3	4	2	3	4	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:116497433G>A	ENST00000410059.1	+	9	1296	c.816G>A	c.(814-816)gcG>gcA	p.A272A	DPP10_ENST00000393147.2_Silent_p.A276A|DPP10_ENST00000409163.1_Silent_p.A222A|DPP10_ENST00000310323.8_Silent_p.A265A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	272					proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						TTACTGGAGCGTTGTATCCCA	0.458													A	116497433	G	A	116497433	2	1	570	1	0	0	0	0	0	0	0	1	4766	1132	40	1		1	DPP10	2	116497433	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		116497433	126701940	8	48484											
POTEE	445582	broad.mit.edu	37	chr2	131976382	131976382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccaggtaccacgtccGtggagaagatctggacaagc	11	5	14	11	2	1	2	0	0	1	2	2	5	2	4	3	4	3	1	3	4	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:131976382G>A	ENST00000356920.5	+	1	501	c.407G>A	c.(406-408)cGt>cAt	p.R136H	PLEKHB2_ENST00000303908.3_Intron|PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_Missense_Mutation_p.R136H	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	136							ATP binding										TACCACGTCCGTGGAGAAGAT	0.592													A	131976382	G	A	131976382	3	1	570	1	0	0	0	0	1	0	0	0	12341	1145	40	1	409	1	POTEE	2	131976382	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	15478949	131976382	111222991	9	48485											
CWC22	57703	broad.mit.edu	37	chr2	180810177	180810177	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcatttcttggtctctgtcAttcgcaactctactgtagtt	6	18	7	10	1	4	0	1	0	3	0	6	0	4	0	0	1	3	4	0	1	3	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr2:180810177A>G	ENST00000410053.3	-	20	2705	c.2406T>C	c.(2404-2406)aaT>aaC	p.N802N	CWC22_ENST00000295749.6_Silent_p.N802N	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	802						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						GGTCTCTGTCATTCGCAACTC	0.353													G	180810177	A	G	180810177	2	3	570	1	0	0	0	0	0	0	0	1	4101	214	8	3		3	CWC22	2	180810177	Silent	SNP	A	TCGA-HT-7882-01A-11D-2395-08	48833795	180810177	62389196	10	48486											
CEP97	79598	broad.mit.edu	37	chr3	101476897	101476897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgagaaagctggactattaCcttgtcctgagccaacaata	14	10	8	9	0	0	2	0	2	0	1	1	4	1	3	3	1	4	1	3	1	6	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:101476897C>T	ENST00000341893.3	+	9	2199	c.1447C>T	c.(1447-1449)Cct>Tct	p.P483S	CEP97_ENST00000494050.1_Missense_Mutation_p.P424S|CEP97_ENST00000327230.4_Missense_Mutation_p.P483S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	483	CEP110 binding.					centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						TGGACTATTACCTTGTCCTGA	0.378													T	101476897	C	T	101476897	3	4	570	1	0	0	0	0	1	0	0	0	3293	507	18	2	1481	2	CEP97	3	101476897	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		101476897	96545533	11	48487											
PIK3CA	5290	broad.mit.edu	37	chr3	178922364	178922364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacactcaaagagtaccttGttccaatcccaggtaaggaa	15	8	8	10	0	1	1	1	0	0	1	3	3	3	2	3	2	2	3	3	2	6	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:178922364G>A	ENST00000263967.3	+	6	1290	c.1133G>A	c.(1132-1134)tGt>tAt	p.C378Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	378	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C378Y(2)|p.C378F(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGAGTACCTTGTTCCAATCCC	0.328		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178922364	G	A	178922364	3	1	570	1	0	0	0	0	1	0	0	0	11990	1377	48	2	1151	2	PIK3CA	3	178922364	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	77445467	178922364	19100066	12	48488											
B3GNT5	84002	broad.mit.edu	37	chr3	182988131	182988131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcagttgggcaaatacctAttgtccacatgccaaatttc	11	13	7	10	0	1	0	1	0	0	0	3	0	2	0	3	1	2	3	3	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr3:182988131A>G	ENST00000326505.3	+	2	1075	c.545A>G	c.(544-546)tAt>tGt	p.Y182C	B3GNT5_ENST00000460419.1_Missense_Mutation_p.Y182C|MCF2L2_ENST00000473233.1_Intron|MCF2L2_ENST00000447025.2_Intron|MCF2L2_ENST00000328913.3_Intron|B3GNT5_ENST00000465010.1_Missense_Mutation_p.Y182C	NM_032047.4	NP_114436.1	Q9BYG0	B3GN5_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5	182					central nervous system development|glycolipid biosynthetic process|protein glycosylation	Golgi membrane|integral to membrane	beta-galactosyl-N-acetylglucosaminylgalactosylglucosyl-ceramide beta-1,3-acetylglucosaminyltransferase activity|galactosyltransferase activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8	all_cancers(143;8.52e-13)|Ovarian(172;0.0355)		all cancers(12;4.52e-44)|Epithelial(37;8.82e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			GCAAATACCTATTGTCCACAT	0.333													G	182988131	A	G	182988131	3	3	570	1	0	0	0	0	1	0	0	0	1265	449	16	3	547	3	B3GNT5	3	182988131	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	4065767	182988131	15034299	13	48489											
PDGFRA	5156	broad.mit.edu	37	chr4	55131161	55131161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacgattgtggtcacctGtgctgtttttaacaatgagg	10	13	12	6	1	1	1	1	1	0	0	1	3	1	2	1	3	3	2	1	3	3	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:55131161G>A	ENST00000257290.5	+	5	1035	c.704G>A	c.(703-705)tGt>tAt	p.C235Y	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	235	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.C235Y(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GTGGTCACCTGTGCTGTTTTT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55131161	G	A	55131161	3	1	570	1	0	0	0	0	1	0	0	0	11737	1377	48	2	718	2	PDGFRA	4	55131161	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		55131161	136023115	14	48490											
TET2	54790	broad.mit.edu	37	chr4	106157894	106157894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgtttttcctgtgcctgAccagggaggaagtcacactc	10	11	10	10	0	1	1	1	1	0	0	3	3	2	3	3	2	1	1	3	2	2	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr4:106157894A>G	ENST00000513237.1	+	3	3655	c.2858A>G	c.(2857-2859)gAc>gGc	p.D953G	TET2_ENST00000305737.2_Missense_Mutation_p.D932G|TET2_ENST00000540549.1_Missense_Mutation_p.D932G|TET2_ENST00000413648.2_Missense_Mutation_p.D932G|TET2_ENST00000545826.1_Missense_Mutation_p.D932G|TET2_ENST00000394764.1_Missense_Mutation_p.D932G|TET2_ENST00000380013.4_Missense_Mutation_p.D932G			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	932	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		CCTGTGCCTGACCAGGGAGGA	0.453			"Mis N, F"		MDS								G	106157894	A	G	106157894	3	3	570	1	0	0	0	0	1	0	0	0	15870	275	10	3	2797	3	TET2	4	106157894	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	51026733	106157894	84996382	15	48491											
SLC6A3	6531	broad.mit.edu	37	chr5	1406358	1406358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccagtacaggctgggcCgctgcccggtcatctgctgg	4	7	15	15	3	2	0	1	0	1	0	2	0	2	0	4	4	3	4	4	4	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406358C>T	ENST00000270349.9	-	12	1671	c.1544G>A	c.(1543-1545)cGg>cAg	p.R515Q	SLC6A3_ENST00000453492.2_Missense_Mutation_p.R515Q	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	515					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	CAGGCTGGGCCGCTGCCCGGT	0.652													T	1406358	C	T	1406358	3	4	570	1	0	0	0	0	1	0	0	0	14779	652	23	1	334	1	SLC6A3	5	1406358	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1406358	179508902	16	48492			1	70		2	2	29	C		5.065004e-05
SLC6A3	6531	broad.mit.edu	37	chr5	1406386	1406386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtcatctgctggatgtcgtCgctgaactgcccaacacctg	7	10	11	13	2	2	1	1	1	1	0	4	2	2	2	2	2	4	2	2	2	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:1406386C>T	ENST00000270349.9	-	12	1643	c.1516G>A	c.(1516-1518)Gac>Aac	p.D506N	SLC6A3_ENST00000453492.2_Missense_Mutation_p.D506N	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	506					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TGGATGTCGTCGCTGAACTGC	0.642													T	1406386	C	T	1406386	3	4	570	1	0	0	0	0	1	0	0	0	14779	884	31	1	362	1	SLC6A3	5	1406386	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	28	1406386	179508874	17	48493			1	70		2	2	29	C		5.065004e-05
CDC20B	166979	broad.mit.edu	37	chr5	54424345	54424345	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtgagacttaagtctatGttttcaatcccattgtggtt	10	16	8	7	0	2	1	1	1	1	1	3	2	3	1	1	1	0	2	1	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:54424345G>T	ENST00000334206.5	-	7	974	c.798C>A	c.(796-798)aaC>aaA	p.N266K	CDC20B_ENST00000381375.2_Missense_Mutation_p.N266K|CDC20B_ENST00000322374.6_Missense_Mutation_p.N266K|CDC20B_ENST00000296733.1_Missense_Mutation_p.N266K			Q86Y33	CD20B_HUMAN	cell division cycle 20B	266										kidney(1)|large_intestine(5)|lung(7)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	19		Lung NSC(810;0.000744)|Breast(144;0.159)|Prostate(74;0.194)	LUSC - Lung squamous cell carcinoma(15;0.225)			TTAAGTCTATGTTTTCAATCC	0.448													T	54424345	G	T	54424345	3	4	570	1	0	0	0	0	1	0	0	0	3090	1368	48	4	785	4	CDC20B	5	54424345	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	53017959	54424345	126490915	18	48494											
GPR98	84059	broad.mit.edu	37	chr5	89979459	89979459	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcattggaacatagactcTgatcctgatggtgatctcgc	9	13	10	9	1	2	4	0	3	2	1	4	5	3	5	1	2	2	1	1	2	2	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:89979459T>C	ENST00000405460.2	+	28	5817	c.5721T>C	c.(5719-5721)tcT>tcC	p.S1907S		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1907					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ACATAGACTCTGATCCTGATG	0.403													C	89979459	T	C	89979459	2	2	570	1	0	0	0	0	0	0	0	1	6776	1567	55	3		3	GPR98	5	89979459	Silent	SNP	T	TCGA-HT-7882-01A-11D-2395-08	35555114	89979459	90935801	19	48495											
SLCO4C1	353189	broad.mit.edu	37	chr5	101582955	101582955	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atttctcaacgtgctacataCcttaggatagacacagttat	13	13	6	9	1	1	1	1	0	1	1	2	2	1	2	1	1	4	2	1	1	6	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr5:101582955C>A	ENST00000310954.6	-	10	2098		c.e10+1			NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1						cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		GTGCTACATACCTTAGGATAG	0.378													A	101582955	C	A	101582955	5	1	570	1	0	0	0	0	0	0	1	0	14824	521	18	4	378	4	SLCO4C1	5	101582955	Splice_Site	SNP	C	TCGA-HT-7882-01A-11D-2395-08	11603496	101582955	79332305	20	48496											
C6orf10	10665	broad.mit.edu	37	chr6	32261388	32261388	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtacaaccaacccactcttCgttacttgggcttcttgtcc	8	13	6	14	1	2	0	0	0	2	0	4	0	3	0	3	1	4	3	3	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:32261388C>T	ENST00000375015.4	-	26	1259	c.1059G>A	c.(1057-1059)acG>acA	p.T353T	C6orf10_ENST00000447241.2_Silent_p.T354T|C6orf10_ENST00000375007.4_Silent_p.T352T|C6orf10_ENST00000442822.2_Silent_p.T345T|C6orf10_ENST00000527965.1_Silent_p.T338T|C6orf10_ENST00000533191.1_Silent_p.T352T			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	354						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						ACCCACTCTTCGTTACTTGGG	0.468													T	32261388	C	T	32261388	2	4	570	1	0	0	0	0	0	0	0	1	2339	871	31	1		1	C6orf10	6	32261388	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		32261388	138853679	21	48497											
TEAD3	7005	broad.mit.edu	37	chr6	35445110	35445110	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcgtcggcggcaggggCggctggatggggtaggctgg	4	6	23	8	4	0	1	0	1	0	0	1	2	0	2	0	10	1	4	0	10	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:35445110C>T	ENST00000338863.7	-	8	797	c.570G>A	c.(568-570)ccG>ccA	p.P190P	TEAD3_ENST00000402886.3_Silent_p.P130P	NM_003214.3	NP_003205	Q99594	TEAD3_HUMAN	TEA domain family member 3	190	Pro-rich.|Transcriptional activation (Potential).				female pregnancy|hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	10						GCGGCAGGGGCGGCTGGATGG	0.627													T	35445110	C	T	35445110	2	4	570	1	0	0	0	0	0	0	0	1	15840	755	27	1		1	TEAD3	6	35445110	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	3183722	35445110	135669957	22	48498											
PRSS35	167681	broad.mit.edu	37	chr6	84233953	84233953	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccgaagggctgggcaCgaggaggcatgggggacgct	9	5	18	9	3	0	0	0	0	0	0	1	4	1	2	1	6	0	4	1	6	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:84233953C>T	ENST00000536636.1	+	3	1138	c.793C>T	c.(793-795)Cga>Tga	p.R265*	PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R265*	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	265	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GGGCTGGGCACGAGGAGGCAT	0.527													T	84233953	C	T	84233953	4	4	570	1	0	0	0	0	0	1	0	0	12709	528	19	1	795	1	PRSS35	6	84233953	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	48788843	84233953	86881114	23	48499											
SAMD3	154075	broad.mit.edu	37	chr6	130497110	130497110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcatcttctatgggtcttCgaacatatttaaagcgatct	11	15	6	9	2	5	0	1	0	4	0	6	2	5	0	0	1	2	0	0	1	5	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:130497110C>T	ENST00000532763.1	-	7	821	c.692G>A	c.(691-693)cGa>cAa	p.R231Q	SAMD3_ENST00000457563.2_Missense_Mutation_p.R257Q|SAMD3_ENST00000533296.1_5'UTR|SAMD3_ENST00000439090.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000368134.2_Missense_Mutation_p.R233Q|SAMD3_ENST00000437477.2_Missense_Mutation_p.R233Q			Q8N6K7	SAMD3_HUMAN	sterile alpha motif domain containing 3	233										breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(15)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	29				GBM - Glioblastoma multiforme(226;0.00594)|OV - Ovarian serous cystadenocarcinoma(155;0.128)		TATGGGTCTTCGAACATATTT	0.343													T	130497110	C	T	130497110	3	4	570	1	0	0	0	0	1	0	0	0	13911	884	31	1	884	1	SAMD3	6	130497110	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	46263157	130497110	40617957	24	48500											
PDE7B	27115	broad.mit.edu	37	chr6	136494954	136494954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatatgtctgtgctggagaAtcatcactggcgatctacaa	12	11	10	8	1	4	1	2	0	2	1	4	4	4	1	0	2	2	1	0	2	5	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr6:136494954A>G	ENST00000308191.6	+	9	1034	c.731A>G	c.(730-732)aAt>aGt	p.N244S	RP13-143G15.4_ENST00000591521.1_RNA|RP13-143G15.4_ENST00000585946.1_RNA|RP13-143G15.4_ENST00000417643.1_RNA	NM_018945.3	NP_061818.1	Q9NP56	PDE7B_HUMAN	phosphodiesterase 7B	244	Catalytic (By similarity).				signal transduction|synaptic transmission	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Colorectal(23;0.24)			OV - Ovarian serous cystadenocarcinoma(155;0.0136)|GBM - Glioblastoma multiforme(68;0.0147)	Dyphylline(DB00651)|Ketotifen(DB00920)	GTGCTGGAGAATCATCACTGG	0.428													G	136494954	A	G	136494954	3	3	570	1	0	0	0	0	1	0	0	0	11728	101	4	3	765	3	PDE7B	6	136494954	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08	5997844	136494954	34620113	25	48501											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517983	113517983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagcttgactttcctcaacaGgaagactagtagaagcagag	14	8	11	8	0	1	4	1	1	0	3	2	6	2	5	1	1	3	3	1	1	5	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:113517983G>A	ENST00000284601.3	-	4	3232	c.3164C>T	c.(3163-3165)cCt>cTt	p.P1055L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1055					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						TTCCTCAACAGGAAGACTAGT	0.363													A	113517983	G	A	113517983	3	1	570	1	0	0	0	0	1	0	0	0	12453	1000	35	2	208	2	PPP1R3A	7	113517983	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		113517983	45620680	26	48502											
ASZ1	136991	broad.mit.edu	37	chr7	117067417	117067417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccgctacctgagacGtccggtcgagatacccaatc	8	8	8	17	4	0	2	0	1	0	2	5	4	3	2	6	1	2	1	6	1	3	2	rs113501399		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:117067417G>A	ENST00000284629.2	-	1	160	c.98C>T	c.(97-99)aCg>aTg	p.T33M		NM_130768.2	NP_570124.1	Q8WWH4	ASZ1_HUMAN	ankyrin repeat, SAM and basic leucine zipper domain containing 1	33					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	pi-body	signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(3)|skin(1)	24	Lung NSC(10;0.00156)|all_lung(10;0.00175)		STAD - Stomach adenocarcinoma(10;0.000512)			TACCTGAGACGTCCGGTCGAG	0.657													A	117067417	G	A	117067417	3	1	570	1	0	0	0	0	1	0	0	0	1074	1145	40	1	1381	1	ASZ1	7	117067417	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	3549434	117067417	42071246	27	48503											
TAS2R40	259286	broad.mit.edu	37	chr7	142919425	142919425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattttcagtctgctattccGaattgtttataaccaaaact	12	16	4	9	1	2	0	1	0	1	0	3	1	3	0	2	0	3	2	2	0	6	8			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr7:142919425G>A	ENST00000408947.3	+	1	296	c.254G>A	c.(253-255)cGa>cAa	p.R85Q		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	85					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					CTGCTATTCCGAATTGTTTAT	0.433													A	142919425	G	A	142919425	3	1	570	1	0	0	0	0	1	0	0	0	15675	1058	37	1	256	1	TAS2R40	7	142919425	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	25852008	142919425	16219238	28	48504											
EFCAB1	79645	broad.mit.edu	37	chr8	49643961	49643961	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtcacatgcaggatgtttcGaaatgcattacgatccagtc	11	12	9	9	2	1	0	1	0	0	0	4	3	2	1	1	1	3	3	1	1	2	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr8:49643961G>A	ENST00000262103.3	-	2	240	c.160C>T	c.(160-162)Cga>Tga	p.R54*	EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron|EFCAB1_ENST00000523092.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	54							calcium ion binding			endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				AGGATGTTTCGAAATGCATTA	0.393													A	49643961	G	A	49643961	4	1	570	1	0	0	0	0	0	1	0	0	4972	1066	37	1	495	1	EFCAB1	8	49643961	Nonsense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49643961	96720061	29	48505											
ASS1	445	broad.mit.edu	37	chr9	133333962	133333962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccaagtatgtgtcccacGgcgccacaggaaaggtgagg	10	5	16	10	2	0	1	0	1	0	0	1	2	1	2	3	5	0	1	3	5	3	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:133333962G>A	ENST00000372394.1	+	5	830	c.349G>A	c.(349-351)Ggc>Agc	p.G117S	ASS1_ENST00000352480.5_Missense_Mutation_p.G117S|ASS1_ENST00000372393.3_Missense_Mutation_p.G117S			P00966	ASSY_HUMAN	argininosuccinate synthase 1	117			G -> D (in CTLN1).|G -> S (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	TGTGTCCCACGGCGCCACAGG	0.657													A	133333962	G	A	133333962	3	1	570	1	0	0	0	0	1	0	0	0	1066	1116	39	1	359	1	ASS1	9	133333962	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		133333962	7879469	30	48506											
SURF2	6835	broad.mit.edu	37	chr9	136227174	136227174	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaggaccttggaagcaCggaggatggggatggcactg	12	5	17	7	1	0	1	0	0	0	1	0	6	0	6	1	7	1	2	1	7	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr9:136227174C>T	ENST00000371964.4	+	5	592	c.551C>T	c.(550-552)aCg>aTg	p.T184M		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	184							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		CTTGGAAGCACGGAGGATGGG	0.527													T	136227174	C	T	136227174	3	4	570	1	0	0	0	0	1	0	0	0	15500	536	19	1	569	1	SURF2	9	136227174	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	2893212	136227174	4986257	31	48507											
PNLIPRP1	5407	broad.mit.edu	37	chr10	118364948	118364948	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgagtttgatgcaaagcTggatgttggaacaattgaga	13	12	12	4	0	0	3	0	3	0	1	0	6	0	5	0	2	3	4	0	2	4	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:118364948T>C	ENST00000528052.1	+	12	1294	c.1223T>C	c.(1222-1224)cTg>cCg	p.L408P	PNLIPRP1_ENST00000534537.1_Missense_Mutation_p.L408P|PNLIPRP1_ENST00000358834.4_Missense_Mutation_p.L408P			P54315	LIPR1_HUMAN	pancreatic lipase-related protein 1	408	PLAT.				lipid metabolic process		calcium ion binding|triglyceride lipase activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	38				all cancers(201;0.0161)		GATGCAAAGCTGGATGTTGGA	0.413													C	118364948	T	C	118364948	3	2	570	1	0	0	0	0	1	0	0	0	12227	1580	55	3	1265	3	PNLIPRP1	10	118364948	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08		118364948	17169799	32	48508											
MKI67	4288	broad.mit.edu	37	chr10	129902797	129902797	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctttgaagccaaccaggTcctctagagcctcagccttt	8	12	8	13	0	3	2	1	1	2	1	4	2	4	2	5	1	4	1	5	1	3	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr10:129902797T>C	ENST00000368654.3	-	13	7682	c.7307A>G	c.(7306-7308)gAc>gGc	p.D2436G	MKI67_ENST00000368653.3_Missense_Mutation_p.D2076G	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2436	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				GCCAACCAGGTCCTCTAGAGC	0.473													C	129902797	T	C	129902797	3	2	570	1	0	0	0	0	1	0	0	0	9673	1667	58	3	2475	3	MKI67	10	129902797	Missense_Mutation	SNP	T	TCGA-HT-7882-01A-11D-2395-08	11537849	129902797	5631950	33	48509											
CCKBR	887	broad.mit.edu	37	chr11	6292257	6292257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggggctgttcaccagaaCgggcgttgccggcctgagac	7	7	15	12	3	2	2	2	1	0	2	2	3	2	2	3	4	2	3	3	4	1	2			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:6292257C>T	ENST00000525462.1	+	4	1038	c.1035C>T	c.(1033-1035)aaC>aaT	p.N345N	CCKBR_ENST00000532715.1_Silent_p.N192N|CCKBR_ENST00000334619.2_Silent_p.N276N|CCKBR_ENST00000532396.1_3'UTR			P32239	GASR_HUMAN	cholecystokinin B receptor	276					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cell proliferation|digestion|elevation of cytosolic calcium ion concentration|feeding behavior|positive regulation of cell proliferation|sensory perception		1-phosphatidylinositol-3-kinase regulator activity|gastrin receptor activity|phosphatidylinositol phospholipase C activity|type B gastrin/cholecystokinin receptor binding			NS(2)|breast(2)|endometrium(4)|kidney(13)|large_intestine(10)|lung(22)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.139)	Pentagastrin(DB00183)	TTCACCAGAACGGGCGTTGCC	0.662													T	6292257	C	T	6292257	2	4	570	1	0	0	0	0	0	0	0	1	2909	535	19	1		1	CCKBR	11	6292257	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08		6292257	128714259	34	48510											
MADD	8567	broad.mit.edu	37	chr11	47304014	47304014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaccctgcgcctctttcctCggcctgtggtagcttttcaa	4	14	9	14	2	2	0	1	0	1	0	4	0	3	0	4	2	3	3	4	2	3	5			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:47304014C>T	ENST00000342922.4	+	9	1909	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	MADD_ENST00000395336.3_Missense_Mutation_p.R518W|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.R518W|MADD_ENST00000402799.1_Missense_Mutation_p.R518W|MADD_ENST00000407859.3_Missense_Mutation_p.R518W|MADD_ENST00000349238.3_Missense_Mutation_p.R518W|MADD_ENST00000406482.1_Missense_Mutation_p.R518W|MADD_ENST00000311027.5_Missense_Mutation_p.R518W|MADD_ENST00000402192.2_Missense_Mutation_p.R518W	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	518	dDENN.				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTCTTTCCTCGGCCTGTGGT	0.562													T	47304014	C	T	47304014	3	4	570	1	0	0	0	0	1	0	0	0	9223	875	31	1	1582	1	MADD	11	47304014	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41011757	47304014	87702502	35	48511											
OR4P4	81300	broad.mit.edu	37	chr11	55406511	55406511	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgtataccatcagagcataCtctgcagagagacgcagcaa	14	8	9	10	1	2	3	1	0	1	3	2	4	2	3	1	0	5	5	1	0	4	4			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55406511C>A	ENST00000314612.2	+	1	678	c.678C>A	c.(676-678)taC>taA	p.Y226*		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						TCAGAGCATACTCTGCAGAGA	0.388													A	55406511	C	A	55406511	4	1	570	1	0	0	0	0	0	1	0	0	11156	576	20	4	680	4	OR4P4	11	55406511	Nonsense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	8102497	55406511	79600005	36	48512											
OR5L1	219437	broad.mit.edu	37	chr11	55579059	55579059	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatctatggagtcacgttGttagccaacctgggcatgat	9	12	10	10	1	3	1	2	1	1	0	3	2	3	2	2	2	2	3	2	2	3	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:55579059G>T	ENST00000333973.2	+	1	206	c.117G>T	c.(115-117)ttG>ttT	p.L39F		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				GAGTCACGTTGTTAGCCAACC	0.507													T	55579059	G	T	55579059	3	4	570	1	0	0	0	0	1	0	0	0	11246	1368	48	4	119	4	OR5L1	11	55579059	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	172548	55579059	79427457	37	48513											
DYNC2H1	79659	broad.mit.edu	37	chr11	102995846	102995846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagtattgaggctagtagtcGaattatggaattggattcta	12	15	11	3	1	1	1	0	1	1	0	2	4	1	3	0	3	0	3	0	3	8	9			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr11:102995846G>A	ENST00000375735.2	+	12	1823	c.1679G>A	c.(1678-1680)cGa>cAa	p.R560Q	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R560Q|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.R560Q	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	560	Stem (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		GCTAGTAGTCGAATTATGGAA	0.333													A	102995846	G	A	102995846	3	1	570	1	0	0	0	0	1	0	0	0	4885	1058	37	1	1725	1	DYNC2H1	11	102995846	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	47416787	102995846	32010670	38	48514											
NAV3	89795	broad.mit.edu	37	chr12	78401085	78401105	+	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	CCAAGCTTCTCCTTCTGGTTC	-																															ttggaaggaagggaagctggCcaagcttctccttctggttc																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:78401085_78401105delCCAAGCTTCTCCTTCTGGTTC	ENST00000397909.2	+	8	1940_1960	c.1767_1787delCCAAGCTTCTCCTTCTGGTTC	c.(1765-1788)ggccaagcttctccttctggttcc>ggc	p.QASPSGS590del	NAV3_ENST00000228327.6_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000266692.7_In_Frame_Del_p.QASPSGS590del|NAV3_ENST00000536525.2_In_Frame_Del_p.QASPSGS590del			Q8IVL0	NAV3_HUMAN	neuron navigator 3	590						nuclear outer membrane	ATP binding|nucleoside-triphosphatase activity			NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						GGGAAGCTGGCCAAGCTTCTCCTTCTGGTTCCTGTACCATG	0.534										HNSCC(70;0.22)			-	78401105	CCAAGCTTCTCCTTCTGGTTC	-	78401085	7	5	570	1	0	1	0	1	0	0	0	0	10261	726	26	0	1797	0	NAV3	12	78401085	In_Frame_Del	DEL	CCAAGCTTCTCCTTCTGGTTC	TCGA-HT-7882-01A-11D-2395-08		78401085	55450810	39	48515											
RASAL1	8437	broad.mit.edu	37	chr12	113539707	113539707	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccacctgagctggtcccGccccaggagcagctgccgat	7	5	11	18	2	0	1	0	1	0	0	1	3	1	2	6	2	4	3	6	2	0	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr12:113539707G>A	ENST00000546530.1	-	20	2500	c.2215C>T	c.(2215-2217)Cgg>Tgg	p.R739W	RASAL1_ENST00000446861.3_Missense_Mutation_p.R709W|RASAL1_ENST00000548055.1_Missense_Mutation_p.R738W|RASAL1_ENST00000261729.5_Missense_Mutation_p.R737W	NM_001193520.1|NM_004658.2	NP_001180449.1|NP_004649.2	O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	737					intracellular signal transduction|negative regulation of Ras protein signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	metal ion binding|phospholipid binding|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						AGCTGGTCCCGCCCCAGGAGC	0.627													A	113539707	G	A	113539707	3	1	570	1	0	0	0	0	1	0	0	0	13151	1086	38	1	217	1	RASAL1	12	113539707	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08	35138622	113539707	20312188	40	48516											
BRF1	2972	broad.mit.edu	37	chr14	105688184	105688184	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttcaggtggctggccgcGgcttccagctcctcgtcctc	2	12	12	15	3	1	0	1	0	0	0	6	0	4	0	4	4	1	4	4	4	0	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr14:105688184G>A	ENST00000546474.1	-	11	16075	c.1116C>T	c.(1114-1116)gcC>gcT	p.A372A	BRF1_ENST00000446501.2_Silent_p.A134A|BRF1_ENST00000547530.1_5'UTR|BRF1_ENST00000379932.4_Intron|BRF1_ENST00000551787.1_Intron|BRF1_ENST00000440513.3_Silent_p.A257A|BRF1_ENST00000327359.3_Silent_p.A257A|BRF1_ENST00000379937.2_Silent_p.A345A|BRF1_ENST00000392557.4_Silent_p.A168A	NM_001242787.1|NM_001519.3	NP_001229716.1|NP_001510.2	Q92994	TF3B_HUMAN	BRF1, RNA polymerase III transcription initiation factor 90 kDa subunit	372					positive regulation of transcription, DNA-dependent|rRNA transcription|transcription initiation from RNA polymerase III promoter|tRNA transcription	transcription factor TFIIIB complex	translation initiation factor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	24		all_cancers(154;0.0231)|all_epithelial(191;0.0694)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00753)|all cancers(16;0.00925)|Epithelial(46;0.0221)	Epithelial(152;0.14)		GGCTGGCCGCGGCTTCCAGCT	0.637													A	105688184	G	A	105688184	2	1	570	1	0	0	0	0	0	0	0	1	1519	1103	39	1		1	BRF1	14	105688184	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		105688184	1661356	41	48517											
ATP10A	57194	broad.mit.edu	37	chr15	25959052	25959052	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttgtaggctctggccgcatAcaccagtgcggcctcatccg	6	9	12	14	3	2	0	1	0	1	0	3	0	3	0	4	3	2	4	4	3	2	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr15:25959052A>G	ENST00000356865.6	-	10	2224	c.2113T>C	c.(2113-2115)Tat>Cat	p.Y705H		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	705					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGGCCGCATACACCAGTGCG	0.662													G	25959052	A	G	25959052	3	3	570	1	0	0	0	0	1	0	0	0	1121	391	14	3	2434	3	ATP10A	15	25959052	Missense_Mutation	SNP	A	TCGA-HT-7882-01A-11D-2395-08		25959052	76572340	42	48518											
HS3ST6	64711	broad.mit.edu	37	chr16	1962006	1962006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcggaaggccagggcgCggaagctgggcaggcccggg	6	2	22	11	5	0	0	0	0	0	0	0	2	0	2	2	8	1	2	2	8	2	0			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr16:1962006C>T	ENST00000454677.2	-	2	730	c.665G>A	c.(664-666)cGc>cAc	p.R222H	HS3ST6_ENST00000293937.3_Missense_Mutation_p.R205H|HS3ST6_ENST00000443547.1_Missense_Mutation_p.R174H			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	174										endometrium(2)|lung(2)	4						GGCCAGGGCGCGGAAGCTGGG	0.716													T	1962006	C	T	1962006	3	4	570	1	0	0	0	0	1	0	0	0	7424	768	27	1	418	1	HS3ST6	16	1962006	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		1962006	88392747	43	48519											
ZZEF1	23140	broad.mit.edu	37	chr17	3937518	3937518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttcattcaggtggcctgcGtttgagatgacaacctgaaa	10	12	11	8	1	2	3	2	3	0	1	2	4	2	3	2	2	2	2	2	2	2	3	rs35511240	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:3937518G>A	ENST00000381638.2	-	40	6499	c.6375C>T	c.(6373-6375)aaC>aaT	p.N2125N		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2125							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						GGTGGCCTGCGTTTGAGATGA	0.527													A	3937518	G	A	3937518	2	1	570	1	0	0	0	0	0	0	0	1	18352	1136	40	1		1	ZZEF1	17	3937518	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		3937518	77257692	44	48520											
FBXW10	10517	broad.mit.edu	37	chr17	18675863	18675866	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gaaaatagtctcatggaaatTctctctaagtgtaatattca																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:18675863_18675866delTCTC	ENST00000308799.4	+	11	2451_2454	c.2232_2235delTCTC	c.(2230-2235)attctcfs	p.IL744fs	FBXW10_ENST00000301938.4_Frame_Shift_Del_p.IL662fs|FBXW10_ENST00000395667.1_Frame_Shift_Del_p.IL715fs|FBXW10_ENST00000573605.1_3'UTR|FBXW10_ENST00000395665.4_Frame_Shift_Del_p.IL715fs			Q5XX13	FBW10_HUMAN	F-box and WD repeat domain containing 10	715										NS(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42						TCATGGAAATTCTCTCTAAGTGTA	0.417													-	18675866	TCTC	-	18675863	7	5	570	1	0	1	0	1	0	0	0	0	5812	1771	62	0	2191	0	FBXW10	17	18675863	Frame_Shift_Del	DEL	TCTC	TCGA-HT-7882-01A-11D-2395-08	14738345	18675863	62519347	45	48521											
LPO	4025	broad.mit.edu	37	chr17	56343663	56343663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctgccatcaacacacagCgttgccgggaccatgggcaa	10	6	12	13	2	1	0	1	0	0	0	1	1	1	1	3	3	4	3	3	3	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:56343663C>T	ENST00000262290.4	+	11	1985	c.1669C>T	c.(1669-1671)Cgt>Tgt	p.R557C	LPO_ENST00000421678.2_Missense_Mutation_p.R474C|LPO_ENST00000582328.1_Missense_Mutation_p.R474C|LPO_ENST00000543544.1_Missense_Mutation_p.R498C	NM_006151.2	NP_006142.1	P22079	PERL_HUMAN	lactoperoxidase	557					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			breast(5)|cervix(1)|endometrium(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30						CAACACACAGCGTTGCCGGGA	0.502													T	56343663	C	T	56343663	3	4	570	1	0	0	0	0	1	0	0	0	8992	768	27	1	1707	1	LPO	17	56343663	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	37667800	56343663	24851547	46	48522											
EVPL	2125	broad.mit.edu	37	chr17	74003773	74003775	+	In_Frame_Del	DEL	TTG	TTG	-																															cggccgtcttgatgctgcacTtgttgtctgtggttgtgtca																										TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr17:74003773_74003775delTTG	ENST00000301607.3	-	22	5764_5766	c.5511_5513delCAA	c.(5509-5514)aacaag>aag	p.N1837del	EVPL_ENST00000586740.1_In_Frame_Del_p.N1859del	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1837	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GATGCTGCACTTGTTGTCTGTGG	0.611													-	74003775	TTG	-	74003773	7	5	570	1	0	1	0	1	0	0	0	0	5333	1609	56	0	592	0	EVPL	17	74003773	In_Frame_Del	DEL	TTG	TCGA-HT-7882-01A-11D-2395-08	17660110	74003773	7191437	47	48523											
DSC3	1825	broad.mit.edu	37	chr18	28581601	28581601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taccactctatcgtctccagGtgcttctgtgtttgatataa	8	16	7	10	1	3	1	0	1	3	0	5	1	3	1	2	1	2	2	2	1	4	6	rs114935867	byFrequency	TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr18:28581601G>A	ENST00000434452.1	-	14	2372	c.2218C>T	c.(2218-2220)Cct>Tct	p.P740S	DSC3_ENST00000360428.4_Missense_Mutation_p.P740S	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	740					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TCGTCTCCAGGTGCTTCTGTG	0.308													A	28581601	G	A	28581601	3	1	570	1	0	0	0	0	1	0	0	0	4806	1261	44	2	515	2	DSC3	18	28581601	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		28581601	49495647	48	48524											
MAP1S	55201	broad.mit.edu	37	chr19	17845112	17845112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccactttcgactcggtgGccatgcatacgtggtacgca	7	10	10	14	4	0	0	0	0	0	0	3	1	1	0	3	3	3	3	3	3	2	3	rs71762031		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:17845112G>C	ENST00000324096.4	+	7	3206	c.3055G>C	c.(3055-3057)Gcc>Ccc	p.A1019P	MAP1S_ENST00000544059.2_Missense_Mutation_p.A993P|CTD-3149D2.4_ENST00000595363.1_RNA	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	1019	Necessary for association with actin (By similarity).|Necessary for interaction with RASSF1 isoform A and isoform C.				apoptosis|brain development|microtubule bundle formation|mitochondrion transport along microtubule|neuron projection morphogenesis	cytosol|dendrite|microtubule|neuronal cell body|nucleus|perinuclear region of cytoplasm|spindle|synapse	actin filament binding|beta-tubulin binding|DNA binding|microtubule binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						CGACTCGGTGGCCATGCATAC	0.657													C	17845112	G	C	17845112	3	2	570	1	0	0	0	0	1	0	0	0	9309	1203	42	4	3081	4	MAP1S	19	17845112	Missense_Mutation	SNP	G	TCGA-HT-7882-01A-11D-2395-08		17845112	41283871	49	48525											
ZNF536	9745	broad.mit.edu	37	chr19	31040081	31040081	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaagaggatgttgaaacCgaaccggaaatgatgaccaa	17	6	12	6	2	0	5	0	4	0	1	0	9	0	7	3	2	2	1	3	2	5	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:31040081C>T	ENST00000355537.3	+	4	3702	c.3555C>T	c.(3553-3555)acC>acT	p.T1185T		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1185					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ATGTTGAAACCGAACCGGAAA	0.572													T	31040081	C	T	31040081	2	4	570	1	0	0	0	0	0	0	0	1	18075	639	23	1		1	ZNF536	19	31040081	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	13194969	31040081	28088902	50	48526											
LILRB2	10288	broad.mit.edu	37	chr19	54783825	54783825	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttttctccctatatagaCggtactcctgggcttcaagg	8	15	8	10	1	2	1	1	0	1	1	4	1	3	1	2	3	1	2	2	3	5	8	rs141797988		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54783825C>T	ENST00000391748.1	-	4	303	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB2_ENST00000434421.1_Intron|LILRB2_ENST00000391749.4_Missense_Mutation_p.R59H|LILRB2_ENST00000314446.5_Missense_Mutation_p.R59H|LILRB2_ENST00000391746.1_Missense_Mutation_p.R59H|LILRB2_ENST00000471216.1_5'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	59	Ig-like C2-type 1.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCTATATAGACGGTACTCCTG	0.547													T	54783825	C	T	54783825	3	4	570	1	0	0	0	0	1	0	0	0	8851	536	19	1	1664	1	LILRB2	19	54783825	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	23743744	54783825	4345158	51	48527											
LILRA3	11026	broad.mit.edu	37	chr19	54803127	54803127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgggctcacggggcccaCggagaagatggcccgggatg	8	5	17	11	3	1	2	1	0	0	2	1	4	1	3	2	6	0	1	2	6	1	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr19:54803127C>T	ENST00000391745.1	-	8	917	c.601G>A	c.(601-603)Gtg>Atg	p.V201M	LILRA3_ENST00000391744.3_Intron|LILRA3_ENST00000251390.3_Missense_Mutation_p.V184M					leukocyte immunoglobulin-like receptor, subfamily A (without TM domain), member 3									p.V184M(1)		NS(3)|breast(1)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		ACGGGGCCCACGGAGAAGATG	0.567													T	54803127	C	T	54803127	3	4	570	1	0	0	0	0	1	0	0	0	8846	536	19	1	785	1	LILRA3	19	54803127	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	19302	54803127	4325856	52	48528											
XKR7	343702	broad.mit.edu	37	chr20	30584347	30584347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgtgtctctggcctggaCgctggcctcctaccagaagg	5	9	12	15	2	1	1	0	0	1	1	4	2	2	2	5	4	1	1	5	4	2	1			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30584347C>T	ENST00000562532.2	+	3	1001	c.827C>T	c.(826-828)aCg>aTg	p.T276M		NM_001011718.1	NP_001011718.1	Q5GH72	XKR7_HUMAN	XK, Kell blood group complex subunit-related family, member 7							integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(19)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	34			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			CTGGCCTGGACGCTGGCCTCC	0.701													T	30584347	C	T	30584347	3	4	570	1	0	0	0	0	1	0	0	0	17538	536	19	1	837	1	XKR7	20	30584347	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08		30584347	32441173	53	48529											
HCK	3055	broad.mit.edu	37	chr20	30667667	30667667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccttcatgatccgggatagCgagaccactaaaggtgacac	12	8	10	11	2	1	3	1	2	0	1	3	5	3	4	3	2	1	0	3	2	3	3			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chr20:30667667C>T	ENST00000534862.1	+	7	822	c.459C>T	c.(457-459)agC>agT	p.S153S	HCK_ENST00000538448.1_Silent_p.S152S|HCK_ENST00000520553.1_Silent_p.S152S|HCK_ENST00000375862.2_Silent_p.S172S|HCK_ENST00000518730.1_Silent_p.S151S|HCK_ENST00000375852.2_Silent_p.S173S	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	173	SH2.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			TCCGGGATAGCGAGACCACTA	0.612													T	30667667	C	T	30667667	2	4	570	1	0	0	0	0	0	0	0	1	7049	767	27	1		1	HCK	20	30667667	Silent	SNP	C	TCGA-HT-7882-01A-11D-2395-08	83320	30667667	32357853	54	48530											
AKAP4	8852	broad.mit.edu	37	chrX	49958224	49958224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaagaatcaatcaaatcGgacacaatctccttggtgtg	14	10	8	9	1	3	1	2	0	1	1	5	2	3	2	1	2	1	1	1	2	5	1	rs140947270		TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:49958224G>A	ENST00000376056.2	-	5	1263	c.1113C>T	c.(1111-1113)tcC>tcT	p.S371S	AKAP4_ENST00000376064.3_Silent_p.S371S|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Intron|AKAP4_ENST00000358526.2_Silent_p.S380S			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	380					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	p.S380S(2)		NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CAATCAAATCGGACACAATCT	0.463													A	49958224	G	A	49958224	2	1	570	1	0	0	0	0	0	0	0	1	453	1103	39	1		1	AKAP4	23	49958224	Silent	SNP	G	TCGA-HT-7882-01A-11D-2395-08		49958224	105312336	55	48531											
PCDH11X	27328	broad.mit.edu	37	chrX	91133911	91133911	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgtcactattgaagaaaCtaaggcagatgatgttgaca	14	13	9	5	0	1	5	1	3	0	2	1	5	1	5	0	1	1	2	0	1	4	6			TCGA-HT-7882-01A-11D-2395-08	TCGA-HT-7882-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4addcc44-a8dd-453c-b647-71d8683f0c32	f15ab5d5-4fc4-467e-b1e6-b4ed73459895	g.chrX:91133911C>A	ENST00000373094.1	+	2	3517	c.2672C>A	c.(2671-2673)aCt>aAt	p.T891N	PCDH11X_ENST00000361655.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000298274.8_Missense_Mutation_p.T891N|PCDH11X_ENST00000406881.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000504220.2_Missense_Mutation_p.T891N|PCDH11X_ENST00000361724.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000373088.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000373097.1_Missense_Mutation_p.T891N|PCDH11X_ENST00000395337.2_Missense_Mutation_p.T891N	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	891					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						ATTGAAGAAACTAAGGCAGAT	0.373													A	91133911	C	A	91133911	3	1	570	1	0	0	0	0	1	0	0	0	11584	565	20	4	2678	4	PCDH11X	23	91133911	Missense_Mutation	SNP	C	TCGA-HT-7882-01A-11D-2395-08	41175687	91133911	64136649	56	48532											
PANK4	55229	broad.mit.edu	37	chr1	2444388	2444388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caggaggcctttcaccagcgCcagctgccgttcctcccagc	6	7	10	18	2	1	0	1	0	0	0	3	1	3	1	6	2	4	2	6	2	0	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:2444388C>T	ENST00000378466.3	-	13	1678	c.1666G>A	c.(1666-1668)Gcg>Acg	p.A556T	PANK4_ENST00000435556.3_Missense_Mutation_p.A517T	NM_018216.1	NP_060686.1	Q9NVE7	PANK4_HUMAN	pantothenate kinase 4	556					coenzyme A biosynthetic process	cytoplasm	ATP binding|pantothenate kinase activity			breast(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	23	all_cancers(77;0.000158)|all_epithelial(69;8.01e-05)|all_lung(157;0.0212)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;3.18e-20)|all_lung(118;1.67e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;1.54e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.95e-23)|GBM - Glioblastoma multiforme(42;2.81e-08)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.00445)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		TTCACCAGCGCCAGCTGCCGT	0.682													T	2444388	C	T	2444388	3	4	571	1	0	0	0	0	1	0	0	0	11495	739	26	2	683	2	PANK4	1	2444388	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		2444388	246806233	1	48533											
AHDC1	27245	broad.mit.edu	37	chr1	27875777	27875777	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgggccatggctgagggCgggggcaccagcttggggaa	7	4	21	9	2	0	1	0	1	0	0	0	3	0	2	2	7	2	3	2	7	1	1	rs151218177		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:27875777C>T	ENST00000374011.2	-	6	3818	c.2850G>A	c.(2848-2850)ccG>ccA	p.P950P	AHDC1_ENST00000247087.5_Silent_p.P950P	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	950							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TGGCTGAGGGCGGGGGCACCA	0.672													T	27875777	C	T	27875777	2	4	571	1	0	0	0	0	0	0	0	1	412	755	27	1		1	AHDC1	1	27875777	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	25431389	27875777	221374844	2	48534											
YIPF1	54432	broad.mit.edu	37	chr1	54331952	54331952	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgcgtcggttatcctcaCgaacagctggccaaaatgtc	11	8	9	13	4	1	0	1	0	0	0	4	1	2	0	2	2	3	2	2	2	5	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr1:54331952C>G	ENST00000072644.1	-	9	1088	c.752G>C	c.(751-753)cGt>cCt	p.R251P	YIPF1_ENST00000371399.1_Missense_Mutation_p.R68P|YIPF1_ENST00000539954.1_Missense_Mutation_p.R276P|YIPF1_ENST00000469457.1_5'UTR	NM_018982.4	NP_061855.1	Q9Y548	YIPF1_HUMAN	Yip1 domain family, member 1	251						integral to membrane|transport vesicle		p.R251H(1)		endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|skin(1)|urinary_tract(2)	19						GTTATCCTCACGAACAGCTGG	0.483													G	54331952	C	G	54331952	3	3	571	1	0	0	0	0	1	0	0	0	17579	536	19	4	176	4	YIPF1	1	54331952	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	26456175	54331952	194918669	3	48535											
REG1A	5967	broad.mit.edu	37	chr2	79348733	79348733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcccggatcagctgccCagaaggcaccaatgcctatc	10	5	10	16	1	1	1	1	0	0	1	2	2	1	2	5	3	3	2	5	3	3	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:79348733C>T	ENST00000233735.1	+	3	213	c.110C>T	c.(109-111)cCa>cTa	p.P37L		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	37	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ATCAGCTGCCCAGAAGGCACC	0.527													T	79348733	C	T	79348733	3	4	571	1	0	0	0	0	1	0	0	0	13298	594	21	2	116	2	REG1A	2	79348733	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		79348733	163850640	4	48536											
RND3	390	broad.mit.edu	37	chr2	151328168	151328168	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggacactggcgtctgcctGtgattggagagctctactaa	9	11	12	9	1	2	2	0	1	2	1	2	4	2	3	1	3	3	1	1	3	3	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:151328168G>A	ENST00000375734.2	-	4	705	c.456C>T	c.(454-456)caC>caT	p.H152H	RND3_ENST00000263895.4_Silent_p.H152H|RND3_ENST00000472416.1_5'UTR|RND3_ENST00000409557.1_Silent_p.H23H	NM_001254738.1	NP_001241667.1	P61587	RND3_HUMAN	Rho family GTPase 3	152					actin cytoskeleton organization|cell adhesion|small GTPase mediated signal transduction	Golgi membrane	GTP binding|GTPase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.106)		GCGTCTGCCTGTGATTGGAGA	0.418													A	151328168	G	A	151328168	2	1	571	1	0	0	0	0	0	0	0	1	13512	1368	48	2		2	RND3	2	151328168	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08	71979435	151328168	91871205	5	48537											
SCN2A	6326	broad.mit.edu	37	chr2	166179921	166179921	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgcccatgaatgggAagatgcatagcgctgtggac	10	8	12	11	1	0	2	0	1	0	1	1	4	1	4	3	2	3	2	3	2	3	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:166179921A>G	ENST00000375437.2	+	12	2217	c.1927A>G	c.(1927-1929)Aag>Gag	p.K643E	SCN2A_ENST00000375427.2_Missense_Mutation_p.K643E|SCN2A_ENST00000283256.6_Missense_Mutation_p.K643E|SCN2A_ENST00000357398.3_Missense_Mutation_p.K643E	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	643					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	CATGAATGGGAAGATGCATAG	0.617													G	166179921	A	G	166179921	3	3	571	1	0	0	0	0	1	0	0	0	14009	247	9	3	2065	3	SCN2A	2	166179921	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	14851753	166179921	77019452	6	48538											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	571	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	42933191	209113112	34086261	7	48539											
STXBP5L	9515	broad.mit.edu	37	chr3	120628568	120628569	+	In_Frame_Ins	INS	-	-	CGC																															actgcaggggttctcagagaINSggaaattcaggaaactttga																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:120628568_120628569insCGC	ENST00000273666.6	+	2	414_415	c.143_144insCGC	c.(142-147)gaggaa>gaCGCggaa	p.48_48E>DA	STXBP5L_ENST00000471454.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000497029.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000492541.1_In_Frame_Ins_p.48_48E>DA|STXBP5L_ENST00000472879.1_In_Frame_Ins_p.48_48E>DA	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	48					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		GTTCTCAGAGAGGAAATTCAGG	0.48													CGC	120628569	-	CGC	120628568	7	5	571	1	0	1	1	0	0	0	0	0	15453	304	11	0	145	0	STXBP5L	3	120628568	In_Frame_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08		120628568	77393862	8	48540											
PLCH1	23007	broad.mit.edu	37	chr3	155215187	155215187	+	Frame_Shift_Del	DEL	T	T	-																															ttctcggcagagcttcatggTtttccttcggcgacccaatc																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr3:155215187delT	ENST00000460012.1	-	15	2083	c.1726delA	c.(1726-1728)accfs	p.T576fs	PLCH1_ENST00000447496.2_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000494598.1_Frame_Shift_Del_p.T594fs|PLCH1_ENST00000334686.6_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000414191.1_Frame_Shift_Del_p.T576fs|PLCH1_ENST00000340059.7_Frame_Shift_Del_p.T594fs			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	594					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)			AGCTTCATGGTTTTCCTTCGG	0.468													-	155215187	T	-	155215187	7	5	571	1	0	1	0	1	0	0	0	0	12114	1725	60	0	3356	0	PLCH1	3	155215187	Frame_Shift_Del	DEL	T	TCGA-HT-7884-01B-11D-2395-08	34586619	155215187	42807243	9	48541											
PDHA2	5161	broad.mit.edu	37	chr4	96761529	96761529	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccgcatggaattgaaggcAgatcagctgtacaaacagaa	15	6	11	9	2	1	3	1	1	0	2	1	4	1	4	1	2	3	4	1	2	5	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:96761529A>G	ENST00000295266.4	+	1	291	c.228A>G	c.(226-228)gcA>gcG	p.A76A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	76					glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	NADH(DB00157)	AATTGAAGGCAGATCAGCTGT	0.537													G	96761529	A	G	96761529	2	3	571	1	0	0	0	0	0	0	0	1	11741	175	7	3		3	PDHA2	4	96761529	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08		96761529	94392747	10	48542											
NEUROG2	63973	broad.mit.edu	37	chr4	113436146	113436146	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcagggtctcggtgagtgcCcagatgtagttgtgggcgaa	7	9	17	8	3	1	2	0	1	1	1	2	3	1	2	1	3	1	3	1	3	2	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr4:113436146C>T	ENST00000313341.3	-	2	812	c.486G>A	c.(484-486)tgG>tgA	p.W162*		NM_024019.3	NP_076924.1	Q9H2A3	NGN2_HUMAN	neurogenin 2	162	Helix-loop-helix motif.				positive regulation of sequence-specific DNA binding transcription factor activity|transcription, DNA-dependent	nucleus	E-box binding			central_nervous_system(1)|large_intestine(3)|lung(6)|skin(2)	12		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.00168)		CGGTGAGTGCCCAGATGTAGT	0.711													T	113436146	C	T	113436146	4	4	571	1	0	0	0	0	0	1	0	0	10429	624	22	2	336	2	NEUROG2	4	113436146	Nonsense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	16674617	113436146	77718130	11	48543											
PCDHB16	57717	broad.mit.edu	37	chr5	140563635	140563635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacccgcacctgcccctcGcctccctggtctccatcaac	6	7	7	21	2	2	0	1	0	1	0	5	1	3	1	7	2	2	1	7	2	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:140563635G>A	ENST00000361016.2	+	1	2656	c.1501G>A	c.(1501-1503)Gcc>Acc	p.A501T		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN		501	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCTGCCCCTCGCCTCCCTGGT	0.677													A	140563635	G	A	140563635	3	1	571	1	0	0	0	0	1	0	0	0	11617	1087	38	1	1503	1	PCDHB16	5	140563635	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		140563635	40351625	12	48544											
SPINK5	11005	broad.mit.edu	37	chr5	147484546	147484546	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagagcaagagcaaaggctAaaagagaagctgcaaaggta	21	3	12	5	0	0	3	0	0	0	3	0	4	0	3	0	2	4	6	0	2	8	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:147484546A>G	ENST00000359874.3	+	16	1535	c.1462A>G	c.(1462-1464)Aaa>Gaa	p.K488E	SPINK5_ENST00000398454.1_Missense_Mutation_p.K488E|SPINK5_ENST00000256084.7_Missense_Mutation_p.K488E	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	488	Kazal-like 7.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAAAGGCTAAAAGAGAAGC	0.328													G	147484546	A	G	147484546	3	3	571	1	0	0	0	0	1	0	0	0	15158	363	13	3	1524	3	SPINK5	5	147484546	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	6920911	147484546	33430714	13	48545											
CLINT1	9685	broad.mit.edu	37	chr5	157240156	157240156	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctttcgctcttcacgaagCctgtcgtcatcctgggcaaa	7	13	8	13	3	4	0	2	0	2	0	7	1	5	0	2	1	1	2	2	1	2	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr5:157240156C>G	ENST00000523094.1	-	5	583	c.378G>C	c.(376-378)agG>agC	p.R126S	CLINT1_ENST00000523908.1_Missense_Mutation_p.R144S|CLINT1_ENST00000411809.2_Missense_Mutation_p.R144S|CLINT1_ENST00000530742.1_Missense_Mutation_p.R126S|CLINT1_ENST00000296951.5_Missense_Mutation_p.R126S	NM_001195555.1|NM_001195556.1	NP_001182484.1|NP_001182485.1	Q14677	EPN4_HUMAN	clathrin interactor 1	144	ENTH.				endocytosis|post-Golgi vesicle-mediated transport	clathrin-coated vesicle|cytosol|Golgi apparatus|membrane|perinuclear region of cytoplasm	clathrin binding|lipid binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|urinary_tract(1)	21	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTTCACGAAGCCTGTCGTCAT	0.418													G	157240156	C	G	157240156	3	3	571	1	0	0	0	0	1	0	0	0	3562	738	26	4	1477	4	CLINT1	5	157240156	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	9755610	157240156	23675104	14	48546											
HLA-DOA	3111	broad.mit.edu	37	chr6	32975791	32975791	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagagggagggccggtaccGttgatggctctgctgcggtt	5	9	18	9	3	1	2	0	1	1	1	1	3	1	3	2	5	3	6	2	5	1	3	rs138032675		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:32975791G>A	ENST00000229829.5	-	2	405	c.330C>T	c.(328-330)aaC>aaT	p.N110N	HLA-DOA_ENST00000495532.1_5'UTR|HLA-DOA_ENST00000450833.2_Splice_Site_p.N80N	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	110	Alpha-1.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCGGTACCGTTGATGGCTC	0.657													A	32975791	G	A	32975791	5	1	571	1	0	0	0	0	0	0	1	0	7255	1159	40	1	438	1	HLA-DOA	6	32975791	Splice_Site	SNP	G	TCGA-HT-7884-01B-11D-2395-08		32975791	138139276	15	48547											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000371432.3_Silent_p.Q51Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													G	45390466	A	G	45390466	2	3	571	1	0	0	0	0	0	0	0	1	13839	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HT-7884-01B-11D-2395-08	12414675	45390466	125724601	16	48548											
SYNE1	23345	broad.mit.edu	37	chr6	152697565	152697565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttatattttgaggtataTcaaaacacttggcggtagtg	12	14	9	6	1	1	1	1	1	0	0	1	1	1	1	0	3	1	2	0	3	7	8			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr6:152697565T>C	ENST00000367255.5	-	58	9876	c.9275A>G	c.(9274-9276)gAt>gGt	p.D3092G	SYNE1_ENST00000423061.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000448038.1_Missense_Mutation_p.D3099G|SYNE1_ENST00000341594.5_Missense_Mutation_p.D3131G|SYNE1_ENST00000265368.4_Missense_Mutation_p.D3092G	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3092					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)		TTGAGGTATATCAAAACACTT	0.358										HNSCC(10;0.0054)			C	152697565	T	C	152697565	3	2	571	1	0	0	0	0	1	0	0	0	15542	1435	50	3	17547	3	SYNE1	6	152697565	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	107307099	152697565	18417502	17	48549											
ITGB8	3696	broad.mit.edu	37	chr7	20441726	20441726	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggatgacttttcttgtccatAtcaccatggaaatctgtgtg	9	15	9	8	0	3	1	1	1	2	0	4	3	4	3	2	2	0	0	2	2	2	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:20441726A>G	ENST00000222573.4	+	10	2348	c.1664A>G	c.(1663-1665)tAt>tGt	p.Y555C	ITGB8_ENST00000537992.1_Missense_Mutation_p.Y420C	NM_002214.2	NP_002205.1	P26012	ITB8_HUMAN	integrin, beta 8		Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway|placenta blood vessel development	integrin complex	protein binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(17)|prostate(2)|skin(4)|stomach(2)|urinary_tract(1)	37						TCTTGTCCATATCACCATGGA	0.363													G	20441726	A	G	20441726	3	3	571	1	0	0	0	0	1	0	0	0	7959	449	16	3	1702	3	ITGB8	7	20441726	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		20441726	138696937	18	48550											
AVL9	23080	broad.mit.edu	37	chr7	32599062	32599062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagtatggcatgcccctgGccatcttcacaaaggtaaag	12	9	9	11	0	3	0	2	0	1	0	3	0	3	0	3	3	1	3	3	3	4	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:32599062G>A	ENST00000318709.4	+	10	1422	c.1201G>A	c.(1201-1203)Gcc>Acc	p.A401T	AVL9_ENST00000409301.1_Missense_Mutation_p.A401T|AVL9_ENST00000404479.1_Missense_Mutation_p.A401T	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	401						integral to membrane				endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CATGCCCCTGGCCATCTTCAC	0.388													A	32599062	G	A	32599062	3	1	571	1	0	0	0	0	1	0	0	0	1233	1203	42	2	1239	2	AVL9	7	32599062	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	12157336	32599062	126539601	19	48551											
IMMP2L	83943	broad.mit.edu	37	chr7	110303732	110303732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctgccagcgctctggggGccacaggatatgtgtggcat	6	11	14	10	1	2	0	0	0	2	0	2	1	2	1	2	4	2	2	2	4	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr7:110303732G>A	ENST00000405709.2	-	6	896	c.454C>T	c.(454-456)Ccc>Tcc	p.P152S	IMMP2L_ENST00000450877.1_Missense_Mutation_p.P134S|IMMP2L_ENST00000489381.1_5'UTR|IMMP2L_ENST00000452895.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000415362.1_Missense_Mutation_p.P152S|IMMP2L_ENST00000331762.3_Missense_Mutation_p.P152S	NM_032549.3	NP_115938.1	Q96T52	IMP2L_HUMAN	IMP2 inner mitochondrial membrane peptidase-like (S. cerevisiae)	152					protein processing involved in protein targeting to mitochondrion|proteolysis	integral to membrane|mitochondrial inner membrane peptidase complex|nucleus	serine-type peptidase activity			endometrium(3)|large_intestine(6)|lung(5)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.053)|Epithelial(3;2.27e-07)|all cancers(3;1.36e-05)|STAD - Stomach adenocarcinoma(3;0.00148)|KIRC - Kidney renal clear cell carcinoma(11;0.0339)|Lung(3;0.0375)|Kidney(11;0.0415)|LUSC - Lung squamous cell carcinoma(290;0.173)		CGCTCTGGGGGCCACAGGATA	0.448													A	110303732	G	A	110303732	3	1	571	1	0	0	0	0	1	0	0	0	7775	1203	42	2	77	2	IMMP2L	7	110303732	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	77704670	110303732	48834931	20	48552											
PCM1	5108	broad.mit.edu	37	chr8	17794714	17794714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaagtttggtgtagaaagTgataaaagagtaaccaatga	20	9	10	2	0	0	4	0	2	0	2	0	4	0	4	1	1	1	3	1	1	8	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr8:17794714T>C	ENST00000325083.8	+	4	607	c.168T>C	c.(166-168)agT>agC	p.S56S	PCM1_ENST00000524226.1_Silent_p.S56S|PCM1_ENST00000518936.1_3'UTR|PCM1_ENST00000518537.1_Silent_p.S56S|PCM1_ENST00000519253.1_Silent_p.S56S	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	56					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		GTGTAGAAAGTGATAAAAGAG	0.373			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								C	17794714	T	C	17794714	2	2	571	1	0	0	0	0	0	0	0	1	11660	1693	59	3		3	PCM1	8	17794714	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		17794714	128569308	21	48553											
OR4C16	219428	broad.mit.edu	37	chr11	55339961	55339961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcctcacggctgttgacCgctatgtggacatctgtaag	8	12	10	11	2	3	1	2	1	1	0	4	2	4	2	2	2	0	4	2	2	2	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:55339961C>T	ENST00000314634.3	+	1	358	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	120					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)				GGCTGTTGACCGCTATGTGGA	0.517													T	55339961	C	T	55339961	3	4	571	1	0	0	0	0	1	0	0	0	11125	652	23	1	360	1	OR4C16	11	55339961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		55339961	79666555	22	48554											
OR4D6	219983	broad.mit.edu	37	chr11	59224594	59224594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactattacctgtgagtcccGcctacacactcctatgtact	9	12	5	15	1	0	1	0	1	0	0	2	1	2	1	4	0	3	1	4	0	5	5			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:59224594G>A	ENST00000300127.2	+	1	184	c.161G>A	c.(160-162)cGc>cAc	p.R54H		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R54H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						TGTGAGTCCCGCCTACACACT	0.458													A	59224594	G	A	59224594	3	1	571	1	0	0	0	0	1	0	0	0	11134	1087	38	1	163	1	OR4D6	11	59224594	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	3884633	59224594	75781922	23	48555											
ZNF259	8882	broad.mit.edu	37	chr11	116657243	116657243	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacccttcgtgcaggctggTcctgctccaggccagagata	7	10	11	13	1	0	1	0	0	0	1	3	2	2	1	4	3	3	3	4	3	2	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr11:116657243T>C	ENST00000227322.3	-	4	538	c.479A>G	c.(478-480)gAc>gGc	p.D160G		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	160					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		TGCAGGCTGGTCCTGCTCCAG	0.478													C	116657243	T	C	116657243	3	2	571	1	0	0	0	0	1	0	0	0	17902	1667	58	3	944	3	ZNF259	11	116657243	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	57432649	116657243	18349273	24	48556											
FKBP4	2288	broad.mit.edu	37	chr12	2910516	2910516	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagaggctggctgaggaggaGaacaaggtgaggattggggt	11	6	21	3	0	0	4	0	2	0	2	0	8	0	6	0	8	1	2	0	8	2	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:2910516G>A	ENST00000001008.4	+	9	1453	c.1266G>A	c.(1264-1266)gaG>gaA	p.E422E	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	422					negative regulation of microtubule polymerization or depolymerization|negative regulation of neuron projection development|protein folding	axonal growth cone|cytosol|membrane|microtubule|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity|protein binding, bridging			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)		Dimethyl sulfoxide(DB01093)	CTGAGGAGGAGAACAAGGTGA	0.557													A	2910516	G	A	2910516	2	1	571	1	0	0	0	0	0	0	0	1	5959	933	33	2		2	FKBP4	12	2910516	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2910516	130941379	25	48557											
MAPKAPK5	8550	broad.mit.edu	37	chr12	112327906	112327906	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggaagtataaccgggaaTgcaaactcctaagagatact	15	9	9	8	1	0	1	0	0	0	1	1	4	1	3	2	2	4	2	2	2	7	5			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:112327906T>G	ENST00000550735.2	+	13	2035	c.1279T>G	c.(1279-1281)Tgc>Ggc	p.C427G	MAPKAPK5_ENST00000551404.2_Missense_Mutation_p.C429G	NM_003668.2|NM_139078.1	NP_003659.2|NP_620777.1	Q8IW41	MAPK5_HUMAN	mitogen-activated protein kinase-activated protein kinase 5	429					signal transduction	cytoplasm|nucleus	ATP binding|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity			endometrium(1)|lung(11)|ovary(1)	13						TAACCGGGAATGCAAACTCCT	0.428													G	112327906	T	G	112327906	3	3	571	1	0	0	0	0	1	0	0	0	9366	1464	51	5	1335	5	MAPKAPK5	12	112327906	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	109417390	112327906	21523989	26	48558											
PXMP2	5827	broad.mit.edu	37	chr12	133277886	133277886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgagggggggcttctggccGgcgctgaggatgaactggcg	6	7	20	8	3	1	3	0	3	1	0	1	4	1	4	1	7	1	2	1	7	1	1	rs139134478	byFrequency	TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr12:133277886G>A	ENST00000545677.1	+	3	267	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	PXMP2_ENST00000539093.1_Missense_Mutation_p.G22S|PXMP2_ENST00000543589.1_Intron|PXMP2_ENST00000428960.2_Silent_p.P57P|RP13-672B3.2_ENST00000537262.1_Missense_Mutation_p.G22S|PXMP2_ENST00000317479.3_Silent_p.P150P			Q9NR77	PXMP2_HUMAN	peroxisomal membrane protein 2, 22kDa	0						integral to membrane|peroxisomal membrane	protein binding			large_intestine(1)|liver(2)|lung(1)	4	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.86e-08)|Epithelial(86;2.47e-07)|all cancers(50;6.85e-06)		GCTTCTGGCCGGCGCTGAGGA	0.612													A	133277886	G	A	133277886	3	1	571	1	0	0	0	0	1	0	0	0	12938	1103	39	1	464	1	PXMP2	12	133277886	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	20949980	133277886	574009	27	48559											
SLC39A9	55334	broad.mit.edu	37	chr14	69908908	69908908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcatgcctatattggtGtttccctcgttctgggcttc	4	16	10	11	1	1	0	0	0	1	0	4	0	2	0	2	2	3	5	2	2	2	6			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr14:69908908G>A	ENST00000336643.5	+	3	1006	c.328G>A	c.(328-330)Gtt>Att	p.V110I	SLC39A9_ENST00000557046.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000556605.1_Missense_Mutation_p.V110I|SLC39A9_ENST00000555245.1_3'UTR|SLC39A9_ENST00000031146.4_Intron	NM_018375.4	NP_060845.2	Q9NUM3	S39A9_HUMAN	solute carrier family 39, member 9	110					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|skin(1)|stomach(1)	14				all cancers(60;0.00299)|BRCA - Breast invasive adenocarcinoma(234;0.0145)|OV - Ovarian serous cystadenocarcinoma(108;0.0373)		CTATATTGGTGTTTCCCTCGT	0.483													A	69908908	G	A	69908908	3	1	571	1	0	0	0	0	1	0	0	0	14719	1377	48	2	338	2	SLC39A9	14	69908908	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		69908908	37440632	28	48560											
LTK	4058	broad.mit.edu	37	chr15	41796600	41796600	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggcggagctcaggctcGtgctgccaacactgggtcat	7	8	14	12	2	2	0	2	0	0	0	3	1	2	1	1	4	4	3	1	4	2	1			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr15:41796600G>A	ENST00000263800.6	-	19	2382	c.2286C>T	c.(2284-2286)caC>caT	p.H762H	LTK_ENST00000561619.1_Silent_p.H460H|LTK_ENST00000453182.2_Silent_p.H632H|LTK_ENST00000355166.5_Silent_p.H701H	NM_002344.5	NP_002335.2	P29376	LTK_HUMAN	leukocyte receptor tyrosine kinase	762	Protein kinase.				apoptosis|cell proliferation|phosphatidylinositol 3-kinase cascade|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(16)|skin(3)|urinary_tract(1)	26		all_cancers(109;1.89e-19)|all_epithelial(112;2.28e-16)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.172)		OV - Ovarian serous cystadenocarcinoma(18;2.1e-17)|GBM - Glioblastoma multiforme(113;1.34e-06)|Colorectal(105;0.0148)|BRCA - Breast invasive adenocarcinoma(123;0.113)		GCTCAGGCTCGTGCTGCCAAC	0.592										TSP Lung(18;0.14)			A	41796600	G	A	41796600	2	1	571	1	0	0	0	0	0	0	0	1	9150	1136	40	1		1	LTK	15	41796600	Silent	SNP	G	TCGA-HT-7884-01B-11D-2395-08		41796600	60734792	29	48561											
SRRM2	23524	broad.mit.edu	37	chr16	2816330	2816330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaccagtaacccgccgtcGttcaaggtctagaacgccaa	11	6	9	15	4	2	1	1	0	1	1	3	1	2	1	5	1	2	2	5	1	5	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:2816330G>A	ENST00000301740.8	+	11	6350	c.5801G>A	c.(5800-5802)cGt>cAt	p.R1934H		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	1934	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						ACCCGCCGTCGTTCAAGGTCT	0.582													A	2816330	G	A	2816330	3	1	571	1	0	0	0	0	1	0	0	0	15265	1145	40	1	5839	1	SRRM2	16	2816330	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08		2816330	87538423	30	48562											
ZNF319	57567	broad.mit.edu	37	chr16	58030901	58030901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgaagggccgctcggcCgcgccgggcaggcacttgtg	5	6	16	14	5	0	1	0	1	0	0	1	1	0	1	3	4	0	3	3	4	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr16:58030901C>T	ENST00000299237.2	-	2	1891	c.1269G>A	c.(1267-1269)gcG>gcA	p.A423A		NM_020807.1	NP_065858.1	Q9P2F9	ZN319_HUMAN	zinc finger protein 319	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(4)|ovary(1)|urinary_tract(1)	8						GCCGCTCGGCCGCGCCGGGCA	0.657													T	58030901	C	T	58030901	2	4	571	1	0	0	0	0	0	0	0	1	17938	639	23	1		1	ZNF319	16	58030901	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	55214571	58030901	32323852	31	48563											
RTN4RL1	146760	broad.mit.edu	37	chr17	1840572	1840572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagactccacagcttgttgcCgtggagaaacaggtggctga	10	8	13	10	1	0	3	0	1	0	2	1	4	1	3	2	3	3	3	2	3	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:1840572C>T	ENST00000331238.6	-	2	1023	c.544G>A	c.(544-546)Ggc>Agc	p.G182S		NM_178568.2	NP_848663.1	Q86UN2	R4RL1_HUMAN	reticulon 4 receptor-like 1						axon regeneration	anchored to plasma membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|prostate(2)|skin(1)	11						AGCTTGTTGCCGTGGAGAAAC	0.602													T	1840572	C	T	1840572	3	4	571	1	0	0	0	0	1	0	0	0	13822	652	23	1	785	1	RTN4RL1	17	1840572	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		1840572	79354638	32	48564											
TP53	7157	broad.mit.edu	37	chr17	7577076	7577077	+	Frame_Shift_Ins	INS	-	-	C																															tcccctttcttgcggagattINSctcttcctctgtgcgccggt																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577076_7577077insC	ENST00000420246.2	-	8	993_994	c.861_862insG	c.(859-864)gagaatfs	p.N288fs	TP53_ENST00000445888.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000359597.4_Frame_Shift_Ins_p.N288fs|TP53_ENST00000455263.2_Frame_Shift_Ins_p.N288fs|TP53_ENST00000269305.4_Frame_Shift_Ins_p.N288fs|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	288	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		N -> D (in a sporadic cancer; somatic mutation).|N -> K (in sporadic cancers; somatic mutation).|N -> S (in sporadic cancers; somatic mutation).|N -> T (in sporadic cancers; somatic mutation).|N -> Y (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.N288fs*13(17)|p.0?(8)|p.E287E(5)|p.N288Y(3)|p.N288fs*18(3)|p.E287D(2)|p.?(2)|p.R283fs*16(2)|p.N288fs*57(2)|p.E286fs*17(2)|p.E285_N288delEEEN(1)|p.E287fs*17(1)|p.R282_E287delRRTEEE(1)|p.T284_G293del10(1)|p.N288D(1)|p.E285fs*13(1)|p.L265_K305del41(1)|p.R283fs*56(1)|p.V272_K292del21(1)|p.N288fs*17(1)|p.N288fs*15(1)|p.E285_L289delEEENL(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)		TTGCGGAGATTCTCTTCCTCTG	0.569		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)			C	7577077	-	C	7577076	7	5	571	1	0	1	1	0	0	0	0	0	16482	1783	62	0	424	0	TP53	17	7577076	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	5736504	7577076	73618134	33	48565			1	71		2	2	46	N	G_-	6.54117e-05
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	571	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	45	7577121	73618089	34	48566			1	71		2	2	46	N	G_-	6.54117e-05
LRRC37A3	374819	broad.mit.edu	37	chr17	62856443	62856443	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatagcgtgggttaagTctttccatctgtctctcacc	8	14	9	10	1	4	0	1	0	3	0	6	1	5	1	2	2	1	1	2	2	3	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:62856443T>C	ENST00000584306.1	-	11	4351	c.3821A>G	c.(3820-3822)gAc>gGc	p.D1274G	LRRC37A3_ENST00000334962.5_Missense_Mutation_p.D251G|LRRC37A3_ENST00000319651.5_Missense_Mutation_p.D1274G|LRRC37A3_ENST00000400877.3_Missense_Mutation_p.D312G|LRRC37A3_ENST00000339474.5_Missense_Mutation_p.D392G	NM_199340.2	NP_955372.2	O60309	L37A3_HUMAN	leucine rich repeat containing 37, member A3	1274						integral to membrane				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|liver(1)|lung(10)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						GTGGGTTAAGTCTTTCCATCT	0.458													C	62856443	T	C	62856443	3	2	571	1	0	0	0	0	1	0	0	0	9063	1667	58	3	1099	3	LRRC37A3	17	62856443	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08	55279322	62856443	18338767	35	48567											
USH1G	124590	broad.mit.edu	37	chr17	72916511	72916511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atgcgccgctccgcctcgcgGaaggccttgtccttcagctt	4	10	11	16	5	1	0	1	0	0	0	4	1	3	1	5	2	2	2	5	2	1	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr17:72916511G>C	ENST00000319642.1	-	2	602	c.420C>G	c.(418-420)ttC>ttG	p.F140L		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	140					equilibrioception|photoreceptor cell maintenance|sensory perception of sound	actin cytoskeleton			HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					CCGCCTCGCGGAAGGCCTTGT	0.672													C	72916511	G	C	72916511	3	2	571	1	0	0	0	0	1	0	0	0	17137	1165	41	4	973	4	USH1G	17	72916511	Missense_Mutation	SNP	G	TCGA-HT-7884-01B-11D-2395-08	10060068	72916511	8278699	36	48568											
CNDP1	84735	broad.mit.edu	37	chr18	72201914	72201914	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tccagcctaatggatcccaaActcgggagaatggtgagtag	12	8	12	9	1	0	2	0	1	0	1	3	4	2	3	3	3	2	1	3	3	4	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr18:72201914A>T	ENST00000582365.1	+	1	78	c.12A>T	c.(10-12)aaA>aaT	p.K4N	CNDP1_ENST00000358821.3_Missense_Mutation_p.K4N|CNDP1_ENST00000585136.1_3'UTR			Q96KN2	CNDP1_HUMAN	carnosine dipeptidase 1 (metallopeptidase M20 family)	0					proteolysis	extracellular region	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity|tripeptidase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27		Esophageal squamous(42;0.129)|Prostate(75;0.157)|Melanoma(33;0.211)		BRCA - Breast invasive adenocarcinoma(31;0.109)		TGGATCCCAAACTCGGGAGAA	0.537													T	72201914	A	T	72201914	3	4	571	1	0	0	0	0	1	0	0	0	3624	40	2	5	14	5	CNDP1	18	72201914	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08		72201914	5875334	37	48569											
MAST3	23031	broad.mit.edu	37	chr19	18260436	18260436	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggttagcttcgatgagcCgcaggaggaggccactgggc	8	6	18	9	2	0	1	0	1	0	0	1	5	0	4	2	6	2	3	2	6	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr19:18260436C>T	ENST00000262811.6	+	27	3830	c.3830C>T	c.(3829-3831)cCg>cTg	p.P1277L	AC007192.6_ENST00000600364.2_RNA	NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3								ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						TTCGATGAGCCGCAGGAGGAG	0.667													T	18260436	C	T	18260436	3	4	571	1	0	0	0	0	1	0	0	0	9401	652	23	1	3936	1	MAST3	19	18260436	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		18260436	40868547	38	48570											
DIDO1	11083	broad.mit.edu	37	chr20	61511961	61511961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gttagaagcgatattctcttCtggaaacggaggggctggcc	9	10	14	8	2	2	1	0	0	2	1	3	4	2	3	1	5	2	2	1	5	4	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511961C>T	ENST00000266070.4	-	16	5672	c.5347G>A	c.(5347-5349)Gaa>Aaa	p.E1783K	DIDO1_ENST00000395343.1_Missense_Mutation_p.E1783K	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1783	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					ATATTCTCTTCTGGAAACGGA	0.612													T	61511961	C	T	61511961	3	4	571	1	0	0	0	0	1	0	0	0	4561	922	32	2	1379	2	DIDO1	20	61511961	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08		61511961	1513559	39	48571			2	72		2	2	32	C		4.506185e-05
DIDO1	11083	broad.mit.edu	37	chr20	61511992	61511992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggctggcccccttggtccCgggaaattggggccgtgaag	5	7	18	11	2	0	1	0	1	0	0	1	2	1	2	4	7	0	1	4	7	2	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr20:61511992C>T	ENST00000266070.4	-	16	5641	c.5316G>A	c.(5314-5316)ccG>ccA	p.P1772P	DIDO1_ENST00000395343.1_Silent_p.P1772P	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	1772	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CCCTTGGTCCCGGGAAATTGG	0.632													T	61511992	C	T	61511992	2	4	571	1	0	0	0	0	0	0	0	1	4561	639	23	1		1	DIDO1	20	61511992	Silent	SNP	C	TCGA-HT-7884-01B-11D-2395-08	31	61511992	1513528	40	48572			2	72		2	2	32	C		4.506185e-05
USP16	10600	broad.mit.edu	37	chr21	30419419	30419419	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatatagagattctgaaTgatagtcatactcctggaac	16	12	7	6	0	2	3	1	2	1	1	3	5	3	4	1	1	2	0	1	1	8	6			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chr21:30419419T>C	ENST00000334352.4	+	15	2019	c.1788T>C	c.(1786-1788)aaT>aaC	p.N596N	USP16_ENST00000535828.1_Silent_p.N225N|USP16_ENST00000399976.2_Silent_p.N596N|USP16_ENST00000399975.3_Silent_p.N595N	NM_001032410.1	NP_001027582.1	Q9Y5T5	UBP16_HUMAN	ubiquitin specific peptidase 16	596					cell division|histone deubiquitination|mitosis|positive regulation of transcription, DNA-dependent|protein homotetramerization|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|histone binding|transcription coactivator activity|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|pancreas(1)|prostate(2)	34						AGATTCTGAATGATAGTCATA	0.378													C	30419419	T	C	30419419	2	2	571	1	0	0	0	0	0	0	0	1	17149	1461	51	3		3	USP16	21	30419419	Silent	SNP	T	TCGA-HT-7884-01B-11D-2395-08		30419419	17710476	41	48573											
FRMPD4	9758	broad.mit.edu	37	chrX	12736148	12736148	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtaaatttggtactgTgtcttcacgagacagtcaac	11	12	10	8	1	3	1	2	0	1	1	3	2	3	1	0	2	2	2	0	2	4	4			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:12736148T>C	ENST00000380682.1	+	16	3709	c.3203T>C	c.(3202-3204)gTg>gCg	p.V1068A		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1068					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTTGGTACTGTGTCTTCACGA	0.507													C	12736148	T	C	12736148	3	2	571	1	0	0	0	0	1	0	0	0	6111	1696	59	3	3265	3	FRMPD4	23	12736148	Missense_Mutation	SNP	T	TCGA-HT-7884-01B-11D-2395-08		12736148	142534412	42	48574											
PPP1R3F	89801	broad.mit.edu	37	chrX	49142309	49142309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggtttctgacgttcCgatgactggcaaccccgcag	7	9	11	14	3	1	2	0	2	1	0	3	3	3	2	4	2	1	5	4	2	1	2			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:49142309C>T	ENST00000055335.6	+	4	1173	c.1157C>T	c.(1156-1158)cCg>cTg	p.P386L	PPP1R3F_ENST00000466508.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000495799.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000376188.1_Missense_Mutation_p.P40L|PPP1R3F_ENST00000438316.1_Missense_Mutation_p.P57L	NM_033215.4	NP_149992.3	Q6ZSY5	PPR3F_HUMAN	protein phosphatase 1, regulatory subunit 3F	386						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|skin(4)	27	Ovarian(276;0.236)					TCTGACGTTCCGATGACTGGC	0.577													T	49142309	C	T	49142309	3	4	571	1	0	0	0	0	1	0	0	0	12457	652	23	1	1171	1	PPP1R3F	23	49142309	Missense_Mutation	SNP	C	TCGA-HT-7884-01B-11D-2395-08	36406161	49142309	106128251	43	48575											
ATRX	546	broad.mit.edu	37	chrX	76939673	76939674	+	Frame_Shift_Ins	INS	-	-	T																															ttggctgtggtctcaatcagINStttttttgccttcttaatca																										TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:76939673_76939674insT	ENST00000373344.5	-	9	1288_1289	c.1074_1075insA	c.(1072-1077)aaactgfs	p.L359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.L321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	359					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)	GTCTCAATCAGTTTTTTTGCCT	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939674	-	T	76939673	7	5	571	1	0	1	1	0	0	0	0	0	1213	1020	36	0	6511	0	ATRX	23	76939673	Frame_Shift_Ins	INS	-	TCGA-HT-7884-01B-11D-2395-08	27797364	76939673	78330887	44	48576											
SERPINA7	6906	broad.mit.edu	37	chrX	105280577	105280577	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagaagtcggtagaaaagActtcagtctcatagagggtc	13	9	13	6	1	2	4	2	0	1	4	5	5	2	4	0	3	0	1	0	3	5	3			TCGA-HT-7884-01B-11D-2395-08	TCGA-HT-7884-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8c13d36-7c29-4e40-8f16-98ea5d746d85	3dc318b4-b8f0-4bc3-87b8-6b29b91f13bf	g.chrX:105280577A>G	ENST00000327674.4	-	1	808	c.473T>C	c.(472-474)gTc>gCc	p.V158A	SERPINA7_ENST00000372563.1_Missense_Mutation_p.V158A			P05543	THBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 7	158					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity	p.V158D(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|skin(3)	24					Levothyroxine(DB00451)|Liothyronine(DB00279)	GGTAGAAAAGACTTCAGTCTC	0.438													G	105280577	A	G	105280577	3	3	571	1	0	0	0	0	1	0	0	0	14187	275	10	3	790	3	SERPINA7	23	105280577	Missense_Mutation	SNP	A	TCGA-HT-7884-01B-11D-2395-08	28340904	105280577	49989983	45	48577											
HIVEP3	59269	broad.mit.edu	37	chr1	41990504	41990504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctgggcttcttgcagCgaattccacactcctcacaa	9	10	8	14	1	2	0	1	0	1	0	4	1	4	0	2	1	3	4	2	1	2	3			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	0.493													T	41990504	C	T	41990504	3	4	572	1	0	0	0	0	1	0	0	0	7243	768	27	1	1951	1	HIVEP3	1	41990504	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		41990504	207260117	1	48578											
SELENBP1	8991	broad.mit.edu	37	chr1	151338898	151338898	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatctcatggcgctgccaGtcccatacatataagtggct	11	10	8	12	1	1	0	1	0	1	0	3	0	2	0	2	2	2	2	2	2	4	3			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	0.572													A	151338898	G	A	151338898	2	1	572	1	0	0	0	0	0	0	0	1	14107	1020	36	2		2	SELENBP1	1	151338898	Silent	SNP	G	TCGA-HT-7902-01A-12D-2395-08	109348394	151338898	97911723	2	48579											
PAPPA2	60676	broad.mit.edu	37	chr1	176668593	176668593	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagagattgatgcagcacTcctgacttctcagccccaca	11	9	8	13	0	1	3	1	2	1	1	3	5	2	3	3	0	3	2	3	0	1	3			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	0.557													A	176668593	T	A	176668593	3	1	572	1	0	0	0	0	1	0	0	0	11509	1551	54	5	3183	5	PAPPA2	1	176668593	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	25329695	176668593	72582028	3	48580											
USH2A	7399	broad.mit.edu	37	chr1	215960035	215960035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagagtacgtgtttacaCtccctgtatgaatggtttct	9	16	9	7	1	1	2	0	1	1	1	2	2	2	2	1	1	2	5	1	1	5	6			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	0.433										HNSCC(13;0.011)			T	215960035	C	T	215960035	3	4	572	1	0	0	0	0	1	0	0	0	17138	565	20	2	5328	2	USH2A	1	215960035	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	39291442	215960035	33290586	4	48581											
ATAD2B	54454	broad.mit.edu	37	chr2	23985167	23985167	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcgactctagtttctgtcttCcgagctccagtactatgagg	7	14	9	11	2	3	1	0	1	3	0	6	3	5	1	2	1	2	3	2	1	3	5			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	0.388													G	23985167	C	G	23985167	2	3	572	1	0	0	0	0	0	0	0	1	1077	842	30	4		4	ATAD2B	2	23985167	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08		23985167	219214206	5	48582											
VWA3B	200403	broad.mit.edu	37	chr2	98744704	98744704	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcaccactgttttgcagatTgaatccatttactactttgt	9	16	7	9	0	0	2	0	1	0	1	1	2	1	2	2	1	3	3	2	1	3	7			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	0.468													C	98744704	T	C	98744704	2	2	572	1	0	0	0	0	0	0	0	1	17343	1800	63	3		3	VWA3B	2	98744704	Silent	SNP	T	TCGA-HT-7902-01A-12D-2395-08	74759537	98744704	144454669	6	48583											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	572	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	110368408	209113112	34086261	7	48584											
PECR	55825	broad.mit.edu	37	chr2	216904042	216904042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccttcatctttttgaCaacagaaaggtcccctgctc	8	13	7	13	0	3	2	1	1	2	1	6	2	4	2	3	2	2	1	3	2	2	3			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	0.483													T	216904042	C	T	216904042	3	4	572	1	0	0	0	0	1	0	0	0	11793	478	17	2	47	2	PECR	2	216904042	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7790930	216904042	26295331	8	48585											
ECEL1	9427	broad.mit.edu	37	chr2	233348787	233348787	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaaagtggcgattggccTggcccaagcagacccgggcc	8	5	14	14	2	0	1	0	0	0	1	0	2	0	1	5	4	2	1	5	4	2	1			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	0.617													G	233348787	T	G	233348787	3	3	572	1	0	0	0	0	1	0	0	0	4930	1580	55	5	1044	5	ECEL1	2	233348787	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08	16444745	233348787	9850586	9	48586											
RNPEPL1	57140	broad.mit.edu	37	chr2	241513688	241513688	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcggcaacgctgtcaccaAcgccacgtgggaagagatgt	10	7	13	11	4	1	1	1	0	0	1	2	3	1	2	2	2	2	3	2	2	3	1			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	0.632													G	241513688	A	G	241513688	3	3	572	1	0	0	0	0	1	0	0	0	13601	43	2	3	414	3	RNPEPL1	2	241513688	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	8164901	241513688	1685685	10	48587											
DNAH1	25981	broad.mit.edu	37	chr3	52406256	52406256	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgccaggtgctgtgcattgGgccaacaggcacggggaaga	9	6	16	10	1	0	1	0	0	0	1	0	2	0	2	2	5	4	3	2	5	2	1			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	0.612													T	52406256	G	T	52406256	3	4	572	1	0	0	0	0	1	0	0	0	4636	1232	43	4	6846	4	DNAH1	3	52406256	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		52406256	145616174	11	48588											
PTPRG	5793	broad.mit.edu	37	chr3	62248553	62248553	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaagcacaaaaacagataCatcaacattttagcatgtga	20	8	5	8	0	1	2	1	1	0	1	1	2	1	2	0	0	6	2	0	0	7	3			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	0.393													G	62248553	C	G	62248553	4	3	572	1	0	0	0	0	0	1	0	0	12890	489	17	4	2706	4	PTPRG	3	62248553	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	9842297	62248553	135773877	12	48589											
ANXA3	306	broad.mit.edu	37	chr4	79512710	79512710	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtttcagtatacaagaagaGtcttggagatgacattagtt	13	13	11	4	0	2	4	1	1	1	3	2	5	2	4	0	2	1	3	0	2	5	6			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	0.338													T	79512710	G	T	79512710	3	4	572	1	0	0	0	0	1	0	0	0	719	1029	36	4	438	4	ANXA3	4	79512710	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		79512710	111641566	13	48590											
PLCXD3	345557	broad.mit.edu	37	chr5	41313757	41313757	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcatcaaagacatagttgaGctttatgacagtgctgataa	14	13	8	6	0	2	4	2	3	0	1	2	4	2	4	0	0	2	3	0	0	4	6			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	0.433													T	41313757	G	T	41313757	3	4	572	1	0	0	0	0	1	0	0	0	12120	971	34	4	41	4	PLCXD3	5	41313757	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		41313757	139601503	14	48591											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										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													-	42196333	T	-	42196333	7	5	572	1	0	1	0	1	0	0	0	0	16576	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-HT-7902-01A-12D-2395-08		42196333	128918734	15	48592											
MUC17	140453	broad.mit.edu	37	chr7	100677107	100677107	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatctcaactcctagtgaaGgaagtcctttattaacaagt	14	12	6	9	0	1	1	1	1	1	0	4	2	3	2	2	1	2	0	2	1	8	4			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	0.478													T	100677107	G	T	100677107	4	4	572	1	0	0	0	0	0	1	0	0	10050	1001	35	4	2420	4	MUC17	7	100677107	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		100677107	58461556	16	48593											
ZNF485	220992	broad.mit.edu	37	chr10	44112250	44112250	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggaaagccttcgctcaGaatgcagctcttactcgtca	9	11	10	11	2	3	1	2	0	1	1	5	2	3	2	1	1	4	3	1	1	3	2			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	0.398													T	44112250	G	T	44112250	3	4	572	1	0	0	0	0	1	0	0	0	18039	933	33	4	773	4	ZNF485	10	44112250	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		44112250	91422497	17	48594											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606166	1606166	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aagagccacagccccccttgGagcccccacaggagccacaa	12	2	9	18	0	0	1	0	0	0	1	0	3	0	3	7	2	4	0	7	2	2	1			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	0.672													C	1606166	G	C	1606166	3	2	572	1	0	0	0	0	1	0	0	0	8617	1174	41	4	526	4	KRTAP5-1	11	1606166	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		1606166	133400350	18	48595											
OR4C16	219428	broad.mit.edu	37	chr11	55339753	55339753	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attattagtgtcaagaccagCcaggcacttaagaacccaat	15	9	7	10	0	1	2	1	0	0	2	1	2	1	2	3	1	2	1	3	1	6	3			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	0.388													T	55339753	C	T	55339753	2	4	572	1	0	0	0	0	0	0	0	1	11125	738	26	2		2	OR4C16	11	55339753	Silent	SNP	C	TCGA-HT-7902-01A-12D-2395-08	53733587	55339753	79666763	19	48596											
MS4A14	84689	broad.mit.edu	37	chr11	60164158	60164158	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcatagctctctgctggAttttctgaagggagagccaa	10	11	10	10	0	3	2	1	1	2	1	4	4	3	3	2	2	3	2	2	2	3	3			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	0.443													G	60164158	A	G	60164158	3	3	572	1	0	0	0	0	1	0	0	0	9934	333	12	3	109	3	MS4A14	11	60164158	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08	4824405	60164158	74842358	20	48597											
MARK2	2011	broad.mit.edu	37	chr11	63668064	63668064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtactgaggggaaaatacCgtattccattctacatgtcc	11	11	10	9	1	1	1	0	1	1	0	3	2	3	2	3	3	3	2	3	3	6	6			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	0.468													T	63668064	C	T	63668064	3	4	572	1	0	0	0	0	1	0	0	0	9388	652	23	1	836	1	MARK2	11	63668064	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	3503906	63668064	71338452	21	48598											
C11orf30	56946	broad.mit.edu	37	chr11	76255366	76255366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttggaactgaggagggcgagGttgaagagatggacacttta	12	9	16	4	1	0	3	0	2	0	1	0	8	0	6	0	5	1	1	0	5	3	4			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	0.463													A	76255366	G	A	76255366	3	1	572	1	0	0	0	0	1	0	0	0	1648	1261	44	2	2843	2	C11orf30	11	76255366	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	12587302	76255366	58751150	22	48599											
SLC2A14	144195	broad.mit.edu	37	chr12	7984329	7984329	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggcatttgccttgtccGtcaaagttttattgataaat	10	15	10	6	1	1	1	1	1	0	0	2	2	2	1	2	2	1	2	2	2	4	6			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	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	7984329	G	A	7984329	3	1	572	1	0	0	0	0	1	0	0	0	14637	1145	40	1	1382	1	SLC2A14	12	7984329	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		7984329	125867566	23	48600											
GPRC5D	55507	broad.mit.edu	37	chr12	13103216	13103216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagcagaattgtgaccaCgatgccaagtatggccaggg	12	7	14	8	1	0	2	0	1	0	1	0	4	0	2	3	2	2	3	3	2	4	3			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	0.532													T	13103216	C	T	13103216	3	4	572	1	0	0	0	0	1	0	0	0	6782	536	19	1	944	1	GPRC5D	12	13103216	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	5118887	13103216	120748679	24	48601											
NKX2-1	7080	broad.mit.edu	37	chr14	36988289	36988289	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggcagctcgctcatgttgcCcaggttgccgttgcagtagc	5	10	13	13	3	1	0	1	0	0	0	2	0	1	0	2	2	5	8	2	2	1	4			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	0.721			A		NSCLC								A	36988289	C	A	36988289	3	1	572	1	0	0	0	0	1	0	0	0	10525	623	22	4	849	4	NKX2-1	14	36988289	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		36988289	70361251	25	48602											
TGM5	9333	broad.mit.edu	37	chr15	43545093	43545093	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgtctgtgtaattctcactCcagtttccattgagcacccc	7	13	6	15	1	2	1	1	1	2	0	5	1	4	1	5	0	1	3	5	0	1	4			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	0.532													T	43545093	C	T	43545093	4	4	572	1	0	0	0	0	0	1	0	0	15933	856	30	2	1468	2	TGM5	15	43545093	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		43545093	58986299	26	48603											
SYNM	23336	broad.mit.edu	37	chr15	99673028	99673028	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctcggtgtgtctgaccgtgGttcctggagagacgcggaca	6	10	15	10	4	2	2	0	1	2	1	4	5	3	4	2	4	0	1	2	4	0	1			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	0.567													T	99673028	G	T	99673028	3	4	572	1	0	0	0	0	1	0	0	0	15552	1261	44	4	4476	4	SYNM	15	99673028	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	56127935	99673028	2858364	27	48604											
CACNG3	10368	broad.mit.edu	37	chr16	24372952	24372952	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcggtcaagttctcgctCcaccgagcccagatcccgag	8	6	12	15	4	2	1	1	0	1	1	5	4	4	1	4	2	1	2	4	2	1	1			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	0.577													A	24372952	C	A	24372952	3	1	572	1	0	0	0	0	1	0	0	0	2584	855	30	4	730	4	CACNG3	16	24372952	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08		24372952	65981801	28	48605											
C16orf46	123775	broad.mit.edu	37	chr16	81095242	81095242	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccacatccagcaccttctCttctgactgcaagaaagagt	11	11	6	13	0	2	3	0	1	2	2	5	3	4	3	3	0	2	2	3	0	2	3			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	0.478													A	81095242	C	A	81095242	4	1	572	1	0	0	0	0	0	1	0	0	1829	922	32	4	507	4	C16orf46	16	81095242	Nonsense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	56722290	81095242	9259511	29	48606											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	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	0.557		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)			C	7578190	T	C	7578190	3	2	572	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-7902-01A-12D-2395-08		7578190	73617020	30	48607											
TP53	7157	broad.mit.edu	37	chr17	7578403	7578403	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagcgctcatggtgggggCagcgcctcacaacctccgtc	7	6	13	15	3	2	0	2	0	0	0	4	0	3	0	3	3	4	3	3	3	1	0			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	0.652		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)			T	7578403	C	T	7578403	3	4	572	1	0	0	0	0	1	0	0	0	16482	710	25	2	771	2	TP53	17	7578403	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	213	7578403	73616807	31	48608											
ZNF287	57336	broad.mit.edu	37	chr17	16456736	16456736	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcttgggctttagtttcCcattctgaaataaaaaatat	13	15	6	7	0	1	1	0	1	1	0	2	1	2	1	1	1	1	3	1	1	6	7			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	0.318													A	16456736	C	A	16456736	3	1	572	1	0	0	0	0	1	0	0	0	17926	624	22	4	1569	4	ZNF287	17	16456736	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	8878333	16456736	64738474	32	48609											
GRB7	2886	broad.mit.edu	37	chr17	37902199	37902199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaactctggttccacgggcGcatttcccgtgaggagagcc	7	8	12	14	3	1	2	0	1	1	1	3	3	3	2	4	3	2	2	4	3	1	2	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	0.622													A	37902199	G	A	37902199	3	1	572	1	0	0	0	0	1	0	0	0	6814	1087	38	1	1350	1	GRB7	17	37902199	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	21445463	37902199	43293011	33	48610											
GZMM	3004	broad.mit.edu	37	chr19	549133	549133	+	Frame_Shift_Del	DEL	C	C	-																															cttctggaacggcagcctctCccccagcatggtctgcctgg																										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													-	549133	C	-	549133	7	5	572	1	0	1	0	1	0	0	0	0	6974	855	30	0	574	0	GZMM	19	549133	Frame_Shift_Del	DEL	C	TCGA-HT-7902-01A-12D-2395-08		549133	58579850	34	48611											
TIMM44	10469	broad.mit.edu	37	chr19	7997604	7997604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggaggatctccgtgagcaCctccgacatctctgtcttgg	6	10	11	14	3	3	1	0	1	3	0	6	4	4	3	4	3	1	1	4	3	0	1			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	0.652													T	7997604	C	T	7997604	3	4	572	1	0	0	0	0	1	0	0	0	16012	507	18	2	483	2	TIMM44	19	7997604	Missense_Mutation	SNP	C	TCGA-HT-7902-01A-12D-2395-08	7448471	7997604	51131379	35	48612											
MUC16	94025	broad.mit.edu	37	chr19	9073488	9073488	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaaatatctgggaactttGttgactgagcaggagttggt	12	12	13	4	0	1	3	0	2	1	1	1	5	1	5	0	3	2	3	0	3	4	4			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	0.458													T	9073488	G	T	9073488	3	4	572	1	0	0	0	0	1	0	0	0	10049	1377	48	4	29893	4	MUC16	19	9073488	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	1075884	9073488	50055495	36	48613											
SBF1	6305	broad.mit.edu	37	chr22	50903540	50903540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcgtcctctaccagcccacGctggcccaggaaggctgcct	7	7	10	17	2	1	0	0	0	1	0	3	1	2	1	5	3	3	2	5	3	2	1			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	0.632													A	50903540	G	A	50903540	3	1	572	1	0	0	0	0	1	0	0	0	13950	1087	38	1	4579	1	SBF1	22	50903540	Missense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08		50903540	401026	37	48614											
ATRX	546	broad.mit.edu	37	chrX	76849196	76849196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatttcctctgccattcgaAgaatttcaaagagaagtacc	14	11	6	10	1	2	2	1	0	1	2	4	4	3	2	3	0	2	1	3	0	6	4			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	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76849196	A	G	76849196	3	3	572	1	0	0	0	0	1	0	0	0	1213	72	3	3	1438	3	ATRX	23	76849196	Missense_Mutation	SNP	A	TCGA-HT-7902-01A-12D-2395-08		76849196	78421364	38	48615											
SMARCA1	6594	broad.mit.edu	37	chrX	128633716	128633716	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaatagctcaccattctcGttgcatcttactcagcccca	10	12	5	14	1	4	1	2	1	2	0	5	1	4	1	3	0	4	3	3	0	3	4			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	0.318													A	128633716	G	A	128633716	4	1	572	1	0	0	0	0	0	1	0	0	14862	1153	40	1	1954	1	SMARCA1	23	128633716	Nonsense_Mutation	SNP	G	TCGA-HT-7902-01A-12D-2395-08	51784520	128633716	26636844	39	48616											
PRAMEF11	440560	broad.mit.edu	37	chr1	12884981	12884981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaccataactttccTgcggggcaggatacagctcc	10	8	9	14	1	1	0	1	0	0	0	3	1	3	1	3	3	5	3	3	3	2	3	rs4989318	by1000genomes	TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr1:12884981T>C	ENST00000535591.1	-	4	1325	c.1130A>G	c.(1129-1131)cAg>cGg	p.Q377R		NM_001146344.1	NP_001139816.1	O60813	PRA11_HUMAN	PRAME family member 11	377										NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|lung(7)|pancreas(2)|skin(4)|urinary_tract(1)	27						ATAACTTTCCTGCGGGGCAGG	0.507													C	12884981	T	C	12884981	3	2	573	1	0	0	0	0	1	0	0	0	12509	1580	55	3	184	3	PRAMEF11	1	12884981	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08		12884981	236365640	1	48617											
CCDC88A	55704	broad.mit.edu	37	chr2	55582839	55582839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcagatgaagaggcatGgggtagaaaatggagaccat	14	7	15	5	0	0	5	0	1	0	4	0	6	0	5	1	4	1	3	1	4	4	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:55582839G>A	ENST00000436346.1	-	8	1517	c.676C>T	c.(676-678)Cat>Tat	p.H226Y	CCDC88A_ENST00000263630.8_Missense_Mutation_p.H226Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H226Y|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H226Y	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	226					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GAAGAGGCATGGGGTAGAAAA	0.443													A	55582839	G	A	55582839	3	1	573	1	0	0	0	0	1	0	0	0	2891	1348	47	2	5039	2	CCDC88A	2	55582839	Missense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		55582839	187616534	2	48618											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	573	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	153530273	209113112	34086261	3	48619											
DST	667	broad.mit.edu	37	chr6	56420389	56420389	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttattatccaagtcacTcagtttatcagaaaggcttc	12	14	7	8	0	3	1	3	0	0	1	5	2	4	1	1	1	0	3	1	1	5	6			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr6:56420389T>C	ENST00000370754.5	-	60	14796	c.14797A>G	c.(14797-14799)Agt>Ggt	p.S4933G	DST_ENST00000361203.3_Missense_Mutation_p.S4753G|DST_ENST00000370769.4_Missense_Mutation_p.S4755G|DST_ENST00000446842.2_Missense_Mutation_p.S4429G|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Missense_Mutation_p.S2667G|DST_ENST00000244364.6_Missense_Mutation_p.S2341G|DST_ENST00000370788.2_Missense_Mutation_p.S2667G			Q03001	DYST_HUMAN	dystonin	4753					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCCAAGTCACTCAGTTTATCA	0.453													C	56420389	T	C	56420389	3	2	573	1	0	0	0	0	1	0	0	0	4822	1551	54	3	8670	3	DST	6	56420389	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08		56420389	114694678	4	48620											
TMEM68	137695	broad.mit.edu	37	chr8	56663637	56663637	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtgagatagctaacaaGtggccactcctcagaatttc	11	10	9	11	0	1	2	1	1	0	2	3	3	2	2	3	2	2	1	3	2	4	3			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr8:56663637G>A	ENST00000434581.2	-	5	772	c.573C>T	c.(571-573)caC>caT	p.H191H	TMEM68_ENST00000334667.2_Silent_p.H191H|TMEM68_ENST00000523073.1_Silent_p.H77H|TMEM68_ENST00000519784.1_Silent_p.H77H			Q96MH6	TMM68_HUMAN	transmembrane protein 68	191						integral to membrane	acyltransferase activity			NS(1)|kidney(1)|lung(2)|ovary(1)|skin(1)	6			Epithelial(17;0.000361)|all cancers(17;0.00326)			TAGCTAACAAGTGGCCACTCC	0.418													A	56663637	G	A	56663637	2	1	573	1	0	0	0	0	0	0	0	1	16297	1020	36	2		2	TMEM68	8	56663637	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		56663637	89700385	5	48621											
SLC4A8	9498	broad.mit.edu	37	chr12	51882579	51882579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccagctcttctctgtactAtcttgatattcatggatcag	8	16	6	11	0	5	1	2	1	3	0	7	2	6	2	1	1	2	2	1	1	3	6	rs138940118		TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr12:51882579A>G	ENST00000453097.2	+	18	2600	c.2383A>G	c.(2383-2385)Atc>Gtc	p.I795V	SLC4A8_ENST00000358657.3_Missense_Mutation_p.I822V	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	795					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		TCTCTGTACTATCTTGATATT	0.453													G	51882579	A	G	51882579	3	3	573	1	0	0	0	0	1	0	0	0	14753	449	16	3	2453	3	SLC4A8	12	51882579	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		51882579	81969316	6	48622											
ITGAL	3683	broad.mit.edu	37	chr16	30500576	30500576	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catctccttccctgggcaggGccatgcagtcgtgggggcag	5	8	15	13	1	1	0	0	0	1	0	4	0	2	0	3	4	1	3	3	4	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr16:30500576G>A	ENST00000356798.6	+	11	1262	c.1082G>A	c.(1081-1083)gGc>gAc	p.G361D	RP11-297C4.2_ENST00000569459.1_RNA|ITGAL_ENST00000568012.1_Intron|ITGAL_ENST00000433423.2_Intron|ITGAL_ENST00000358164.5_Splice_Site_p.G278D	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	361					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	CCTGGGCAGGGCCATGCAGTC	0.622													A	30500576	G	A	30500576	5	1	573	1	0	0	0	0	0	0	1	0	7944	1217	42	2	1124	2	ITGAL	16	30500576	Splice_Site	SNP	G	TCGA-HT-8010-01A-11D-2395-08		30500576	59854177	7	48623											
NF1	4763	broad.mit.edu	37	chr17	29556985	29556985	+	Frame_Shift_Del	DEL	C	C	-																															ttgaaacaatgatgttaaatCtggtcaggtaagcattctac																										TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:29556985delC	ENST00000358273.4	+	22	3366	c.2983delC	c.(2983-2985)ctgfs	p.L995fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.L995fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	995					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GATGTTAAATCTGGTCAGGTA	0.348			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29556985	C	-	29556985	7	5	573	1	0	1	0	1	0	0	0	0	10432	912	32	0	3130	0	NF1	17	29556985	Frame_Shift_Del	DEL	C	TCGA-HT-8010-01A-11D-2395-08		29556985	51638225	8	48624											
SLC25A39	51629	broad.mit.edu	37	chr17	42400903	42400903	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccatttgctggagggggcTgatgcccgcagggtcctggt	5	9	16	11	1	0	1	0	1	0	0	1	2	1	2	3	5	2	3	3	5	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr17:42400903T>C	ENST00000225308.8	-	2	202	c.28A>G	c.(28-30)Agc>Ggc	p.S10G	SLC25A39_ENST00000377095.5_Missense_Mutation_p.S10G|SLC25A39_ENST00000586016.1_Intron|SLC25A39_ENST00000590194.1_Missense_Mutation_p.S10G|SLC25A39_ENST00000537904.2_Missense_Mutation_p.S10G	NM_016016.2	NP_057100.1	Q9BZJ4	S2539_HUMAN	solute carrier family 25, member 39	10					heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				endometrium(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	7		Prostate(33;0.0233)		BRCA - Breast invasive adenocarcinoma(366;0.189)		TGGAGGGGGCTGATGCCCGCA	0.612													C	42400903	T	C	42400903	3	2	573	1	0	0	0	0	1	0	0	0	14597	1580	55	3	1095	3	SLC25A39	17	42400903	Missense_Mutation	SNP	T	TCGA-HT-8010-01A-11D-2395-08	12843918	42400903	38794307	9	48625											
FFAR3	2865	broad.mit.edu	37	chr19	35850686	35850686	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggaggttgtgtgggctctgGggccagtggcagcaggagag	7	7	21	6	0	1	1	0	0	1	1	1	3	1	2	1	7	1	4	1	7	0	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:35850686G>A	ENST00000327809.4	+	2	1095	c.894G>A	c.(892-894)tgG>tgA	p.W298*	FFAR3_ENST00000594310.1_Nonsense_Mutation_p.W298*	NM_005304.3	NP_005295.1	O14843	FFAR3_HUMAN	free fatty acid receptor 3	298						integral to plasma membrane	G-protein coupled receptor activity|lipid binding			endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|stomach(1)	17	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;1.29e-19)|OV - Ovarian serous cystadenocarcinoma(14;4.63e-18)|all cancers(14;5.19e-17)|LUSC - Lung squamous cell carcinoma(66;0.0221)			GTGGGCTCTGGGGCCAGTGGC	0.587													A	35850686	G	A	35850686	4	1	573	1	0	0	0	0	0	1	0	0	5878	1241	43	2	896	2	FFAR3	19	35850686	Nonsense_Mutation	SNP	G	TCGA-HT-8010-01A-11D-2395-08		35850686	23278297	10	48626											
NKPD1	284353	broad.mit.edu	37	chr19	45655769	45655771	+	In_Frame_Del	DEL	CTG	CTG	-																															gtggggcccccaaagtccccCtgctgctgctgctgctgcag																										TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr19:45655769_45655771delCTG	ENST00000317951.4	-	4	1923_1925	c.1924_1926delCAG	c.(1924-1926)cagdel	p.Q642del	NKPD1_ENST00000589776.1_In_Frame_Del_p.Q420del|NKPD1_ENST00000438936.2_In_Frame_Del_p.Q420del|NKPD1_ENST00000429338.1_In_Frame_Del_p.Q420del	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		CAAAGTCCCCCTGCTGCTGCTGC	0.704													-	45655771	CTG	-	45655769	7	5	573	1	0	1	0	1	0	0	0	0	10522	680	24	0	576	0	NKPD1	19	45655769	In_Frame_Del	DEL	CTG	TCGA-HT-8010-01A-11D-2395-08	9805083	45655769	13473214	11	48627											
POFUT2	23275	broad.mit.edu	37	chr21	46685545	46685545	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgagactgaggtgccaataAaaaacctgcaaaggatcaca	17	7	9	8	0	1	2	1	2	0	1	1	4	1	3	2	2	3	1	2	2	5	2			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr21:46685545A>C	ENST00000349485.5	-	9	1168	c.1142T>G	c.(1141-1143)tTt>tGt	p.F381C	POFUT2_ENST00000471540.1_5'UTR|POFUT2_ENST00000331343.7_3'UTR	NM_133635.4	NP_598368.2	Q9Y2G5	OFUT2_HUMAN	protein O-fucosyltransferase 2	381					fucose metabolic process	endoplasmic reticulum	peptide-O-fucosyltransferase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(9)|skin(2)|upper_aerodigestive_tract(2)	20				Colorectal(79;0.243)		GGTGCCAATAAAAAACCTGCA	0.498													C	46685545	A	C	46685545	3	2	573	1	0	0	0	0	1	0	0	0	12261	14	1	5	151	5	POFUT2	21	46685545	Missense_Mutation	SNP	A	TCGA-HT-8010-01A-11D-2395-08		46685545	1444350	12	48628											
MFNG	4242	broad.mit.edu	37	chr22	37882152	37882152	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagtggtaccgcagacacaGgagccccatgcacaggaggg	12	3	14	12	1	0	1	0	0	0	1	0	3	0	3	3	4	3	3	3	4	2	1			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chr22:37882152G>A	ENST00000356998.3	-	1	287	c.64C>T	c.(64-66)Ctg>Ttg	p.L22L	MFNG_ENST00000416983.3_Silent_p.L22L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	22					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					CGCAGACACAGGAGCCCCATG	0.682													A	37882152	G	A	37882152	2	1	573	1	0	0	0	0	0	0	0	1	9600	991	35	2		2	MFNG	22	37882152	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08		37882152	13422414	13	48629											
USP11	8237	broad.mit.edu	37	chrX	47101902	47101902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggctctgtccaaacacaCgggcatctcgccagagaggg	9	7	13	12	2	2	1	0	0	2	1	4	2	3	1	2	3	1	2	2	3	1	0			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47101902C>T	ENST00000377107.2	+	11	1823	c.1469C>T	c.(1468-1470)aCg>aTg	p.T490M	USP11_ENST00000218348.3_Missense_Mutation_p.T533M			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	533					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TCCAAACACACGGGCATCTCG	0.567													T	47101902	C	T	47101902	3	4	573	1	0	0	0	0	1	0	0	0	17144	536	19	1	1640	1	USP11	23	47101902	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08		47101902	108168658	14	48630											
ZNF182	7569	broad.mit.edu	37	chrX	47836606	47836606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaaggcttttccacattCaggacactcaaagggtctct	10	12	8	11	0	4	1	2	1	2	0	6	2	5	2	1	3	0	1	1	3	2	3			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:47836606C>T	ENST00000396965.1	-	7	1230	c.880G>A	c.(880-882)Gaa>Aaa	p.E294K	ZNF182_ENST00000376943.3_Missense_Mutation_p.E275K|ZNF182_ENST00000305127.6_Missense_Mutation_p.E294K	NM_001178099.1	NP_001171570.1	P17025	ZN182_HUMAN	zinc finger protein 182	294					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)	22						TTTCCACATTCAGGACACTCA	0.398													T	47836606	C	T	47836606	3	4	573	1	0	0	0	0	1	0	0	0	17851	835	29	2	1043	2	ZNF182	23	47836606	Missense_Mutation	SNP	C	TCGA-HT-8010-01A-11D-2395-08	734704	47836606	107433954	15	48631											
ATP11C	286410	broad.mit.edu	37	chrX	138886675	138886675	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggctgtagtgacataacaGgttccatcagtggtgcaaga	11	10	12	8	0	1	2	1	1	0	1	2	2	2	2	1	3	2	4	1	3	3	3			TCGA-HT-8010-01A-11D-2395-08	TCGA-HT-8010-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6fafd282-546e-4f61-b4f3-11fcc9afe5ef	75055f5e-3025-4fe5-9955-2be30e9ed69a	g.chrX:138886675G>C	ENST00000370557.1	-	6	1537	c.510C>G	c.(508-510)acC>acG	p.T170T	ATP11C_ENST00000327569.3_Silent_p.T173T|ATP11C_ENST00000370543.1_Silent_p.T173T|ATP11C_ENST00000361648.2_Silent_p.T173T|ATP11C_ENST00000359686.2_Silent_p.T173T			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	173					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TGACATAACAGGTTCCATCAG	0.393													C	138886675	G	C	138886675	2	2	573	1	0	0	0	0	0	0	0	1	1126	987	35	4		4	ATP11C	23	138886675	Silent	SNP	G	TCGA-HT-8010-01A-11D-2395-08	91050069	138886675	16383885	16	48632											
WDR63	126820	broad.mit.edu	37	chr1	85551533	85551533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattacatatatgatttctcGaaaacgaagtgaatttggtg	14	14	9	4	2	1	2	0	2	1	0	2	5	1	2	0	1	2	0	0	1	7	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:85551533G>A	ENST00000294664.6	+	7	740	c.560G>A	c.(559-561)cGa>cAa	p.R187Q	WDR63_ENST00000370596.1_Missense_Mutation_p.R187Q|WDR63_ENST00000326813.8_Missense_Mutation_p.R187Q	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	187										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		ATGATTTCTCGAAAACGAAGT	0.373													A	85551533	G	A	85551533	3	1	574	1	0	0	0	0	1	0	0	0	17416	1058	37	1	582	1	WDR63	1	85551533	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		85551533	163699088	1	48633											
AGL	178	broad.mit.edu	37	chr1	100361871	100361871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttcttctggtattttcCgctgctggggaagggatact	6	17	11	7	1	2	0	0	0	2	0	3	2	3	2	1	4	2	3	1	4	3	7			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:100361871C>T	ENST00000294724.4	+	25	3767	c.3289C>T	c.(3289-3291)Cgc>Tgc	p.R1097C	AGL_ENST00000370161.2_Missense_Mutation_p.R1081C|AGL_ENST00000361915.3_Missense_Mutation_p.R1097C|AGL_ENST00000370165.3_Missense_Mutation_p.R1097C|AGL_ENST00000361522.4_Missense_Mutation_p.R1080C|AGL_ENST00000361302.3_Missense_Mutation_p.R1081C|AGL_ENST00000370163.3_Missense_Mutation_p.R1097C	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	1097					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		TGGTATTTTCCGCTGCTGGGG	0.373													T	100361871	C	T	100361871	3	4	574	1	0	0	0	0	1	0	0	0	384	652	23	1	3452	1	AGL	1	100361871	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	14810338	100361871	148888750	2	48634											
OR2M7	391196	broad.mit.edu	37	chr1	248487786	248487786	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatggccaggaccagaaAgaagaggaaggtgtgggtgg	15	4	18	4	0	0	4	0	0	0	4	0	6	0	6	2	6	0	0	2	6	4	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr1:248487786A>T	ENST00000317965.2	-	1	113	c.85T>A	c.(85-87)Ttt>Att	p.F29I		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGACCAGAAAGAAGAGGAAG	0.502													T	248487786	A	T	248487786	3	4	574	1	0	0	0	0	1	0	0	0	11090	72	3	5	856	5	OR2M7	1	248487786	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	148125915	248487786	762835	3	48635											
QPCT	25797	broad.mit.edu	37	chr2	37594451	37594451	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggcttttcttcactggtCtcctcaagattctctctatg	7	16	7	11	0	6	2	2	0	4	2	8	2	6	2	1	2	0	1	1	2	2	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:37594451C>G	ENST00000338415.3	+	4	781	c.623C>G	c.(622-624)tCt>tGt	p.S208C	QPCT_ENST00000537448.1_Missense_Mutation_p.S159C	NM_012413.3	NP_036545.1	Q16769	QPCT_HUMAN	glutaminyl-peptide cyclotransferase	208					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase|proteolysis	extracellular region	acyltransferase activity|glutaminyl-peptide cyclotransferase activity|peptidase activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|prostate(1)|stomach(2)	17		Ovarian(717;0.051)|all_hematologic(82;0.21)				CTTCACTGGTCTCCTCAAGAT	0.488													G	37594451	C	G	37594451	3	3	574	1	0	0	0	0	1	0	0	0	12962	913	32	4	637	4	QPCT	2	37594451	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		37594451	205604922	4	48636											
COL6A3	1293	broad.mit.edu	37	chr2	238249144	238249144	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagcgcatcaaaggctcctcGttgagctcggtggacttgtc	8	10	12	11	3	1	1	1	1	0	0	5	2	2	2	1	3	2	4	1	3	2	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr2:238249144G>A	ENST00000295550.4	-	38	8867	c.8415C>T	c.(8413-8415)aaC>aaT	p.N2805N	COL6A3_ENST00000409809.1_Silent_p.N2599N|COL6A3_ENST00000353578.4_Silent_p.N2599N|COL6A3_ENST00000346358.4_Silent_p.N2605N|COL6A3_ENST00000472056.1_Silent_p.N2198N|COL6A3_ENST00000347401.3_Silent_p.N2604N	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2805	Nonhelical region.|VWFA 12.		N -> T (in dbSNP:rs35848091).		axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		AAGGCTCCTCGTTGAGCTCGG	0.557													A	238249144	G	A	238249144	2	1	574	1	0	0	0	0	0	0	0	1	3732	1136	40	1		1	COL6A3	2	238249144	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	200654693	238249144	4950229	5	48637											
KCNH8	131096	broad.mit.edu	37	chr3	19575087	19575087	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctacacttgcaaacaggCggggctgcttatacccaagc	10	8	10	13	1	0	0	0	0	0	0	0	0	0	0	2	3	7	3	2	3	5	4	rs151258565	by1000genomes	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:19575087C>T	ENST00000328405.2	+	16	3086	c.2820C>T	c.(2818-2820)ggC>ggT	p.G940G		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	940						integral to membrane	two-component sensor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						TGCAAACAGGCGGGGCTGCTT	0.542													T	19575087	C	T	19575087	2	4	574	1	0	0	0	0	0	0	0	1	8096	755	27	1		1	KCNH8	3	19575087	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19575087	178447343	6	48638											
PLD1	5337	broad.mit.edu	37	chr3	171330202	171330202	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgctttcccagcatgctgcGgtcatttatgttggcagagc	7	12	11	11	2	1	1	1	0	0	1	2	1	2	1	1	2	4	5	1	2	1	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr3:171330202G>A	ENST00000356327.5	-	24	2705	c.2635C>T	c.(2635-2637)Cgc>Tgc	p.R879C	PLD1_ENST00000351298.4_Missense_Mutation_p.R917C|PLD1_ENST00000342215.6_3'UTR|PLD1_ENST00000340989.4_Missense_Mutation_p.R917C	NM_001130081.2	NP_001123553.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	917	Catalytic.				cell communication|chemotaxis|Ras protein signal transduction	endoplasmic reticulum membrane|Golgi membrane|late endosome membrane|perinuclear region of cytoplasm	NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	AGCATGCTGCGGTCATTTATG	0.493													A	171330202	G	A	171330202	3	1	574	1	0	0	0	0	1	0	0	0	12122	1116	39	1	487	1	PLD1	3	171330202	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	151755115	171330202	26692228	7	48639											
QDPR	5860	broad.mit.edu	37	chr4	17513644	17513644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgccgtacaccagcacccGgcgcgcctcgcctgcagccg	5	3	12	21	7	0	0	0	0	0	0	1	0	0	0	7	1	4	3	7	1	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:17513644G>A	ENST00000281243.5	-	1	213	c.34C>T	c.(34-36)Cgg>Tgg	p.R12W	QDPR_ENST00000508623.1_Missense_Mutation_p.R12W|QDPR_ENST00000513615.1_Missense_Mutation_p.R12W|QDPR_ENST00000428702.2_Missense_Mutation_p.R12W	NM_000320.2	NP_000311.2	P09417	DHPR_HUMAN	quinoid dihydropteridine reductase	12					dihydrobiopterin metabolic process|L-phenylalanine catabolic process|tetrahydrobiopterin biosynthetic process	cytosol	6,7-dihydropteridine reductase activity|binding|electron carrier activity			autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	13					NADH(DB00157)	ACCAGCACCCGGCGCGCCTCG	0.756													A	17513644	G	A	17513644	3	1	574	1	0	0	0	0	1	0	0	0	12960	1115	39	1	728	1	QDPR	4	17513644	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		17513644	173640632	8	48640											
TECRL	253017	broad.mit.edu	37	chr4	65180375	65180375	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtatcacttactgtaccactGggtggcgtaatcttctagca	9	13	9	10	1	3	0	1	0	2	0	3	0	3	0	1	2	3	4	1	2	5	6			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:65180375G>T	ENST00000381210.3	-	5	652	c.542C>A	c.(541-543)cCa>cAa	p.P181Q	TECRL_ENST00000513125.1_5'UTR|TECRL_ENST00000507440.1_Missense_Mutation_p.P181Q	NM_001010874.4	NP_001010874.2	Q5HYJ1	TECRL_HUMAN	trans-2,3-enoyl-CoA reductase-like	181					lipid metabolic process	cytoplasm|integral to membrane	oxidoreductase activity, acting on the CH-CH group of donors			endometrium(2)|kidney(5)|large_intestine(7)|lung(30)|prostate(1)|skin(1)|stomach(1)	47						CTGTACCACTGGGTGGCGTAA	0.438													T	65180375	G	T	65180375	3	4	574	1	0	0	0	0	1	0	0	0	15846	1348	47	4	581	4	TECRL	4	65180375	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	47666731	65180375	125973901	9	48641											
CSN3	1448	broad.mit.edu	37	chr4	71114862	71114862	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatccatatgtgcctcgcAcatattatgcaaacccagct	13	11	5	12	1	0	0	0	0	0	0	2	0	1	0	3	0	4	3	3	0	5	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:71114862A>G	ENST00000304954.3	+	4	321	c.235A>G	c.(235-237)Aca>Gca	p.T79A		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	79						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TGTGCCTCGCACATATTATGC	0.448													G	71114862	A	G	71114862	3	3	574	1	0	0	0	0	1	0	0	0	3982	159	6	3	245	3	CSN3	4	71114862	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	5934487	71114862	120039414	10	48642											
BTC	685	broad.mit.edu	37	chr4	75673309	75673309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagttatatctttacccagaGtttccatttcttcttctttc	7	20	4	10	0	4	1	0	0	4	1	6	2	5	1	2	0	1	2	2	0	3	9			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:75673309G>T	ENST00000395743.3	-	5	839	c.479C>A	c.(478-480)aCt>aAt	p.T160N		NM_001729.2	NP_001720.1	P35070	BTC_HUMAN	betacellulin	160					positive regulation of cell division|positive regulation of cell proliferation	extracellular space|integral to membrane|plasma membrane|soluble fraction	epidermal growth factor receptor binding|growth factor activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	10			Lung(101;0.219)			TTTACCCAGAGTTTCCATTTC	0.353													T	75673309	G	T	75673309	3	4	574	1	0	0	0	0	1	0	0	0	1559	1029	36	4	61	4	BTC	4	75673309	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	4558447	75673309	115480967	11	48643											
PPEF2	5470	broad.mit.edu	37	chr4	76787356	76787356	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttacctcgcgactcagttGttccttggccaagttcttca	6	14	8	13	3	3	0	2	0	1	0	5	1	4	0	3	1	1	4	3	1	2	6			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:76787356G>T	ENST00000286719.7	-	15	2262	c.1906C>A	c.(1906-1908)Caa>Aaa	p.Q636K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	636					detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CGACTCAGTTGTTCCTTGGCC	0.493													T	76787356	G	T	76787356	3	4	574	1	0	0	0	0	1	0	0	0	12385	1386	48	4	367	4	PPEF2	4	76787356	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	1114047	76787356	114366920	12	48644											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99300314	99300314	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaactatagcaatgagaatGgtaaacaaaactgaaaactt	20	9	7	5	0	0	3	0	3	0	1	0	4	0	3	0	1	5	2	0	1	11	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr4:99300314G>A	ENST00000408927.3	+	5	621	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RAP1GDS1_ENST00000264572.7_Intron|RAP1GDS1_ENST00000408900.3_Intron|RAP1GDS1_ENST00000380158.4_Intron|RAP1GDS1_ENST00000512857.1_Intron|RAP1GDS1_ENST00000339360.5_Splice_Site_p.D171N|RAP1GDS1_ENST00000453712.2_Splice_Site_p.D171N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	170							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		CAATGAGAATGGTAAACAAAA	0.333			T	NUP98	T-ALL								A	99300314	G	A	99300314	5	1	574	1	0	0	0	0	0	0	1	0	13127	1362	47	2	529	2	RAP1GDS1	4	99300314	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	22512958	99300314	91853962	13	48645											
SPEF2	79925	broad.mit.edu	37	chr5	35692734	35692734	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagctatccaagcatttcatGacaatgaaaaagtcagtgag	17	9	8	7	0	2	3	2	3	0	0	3	3	3	3	1	0	2	2	1	0	6	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:35692734G>A	ENST00000440995.2	+	12	1807	c.1807G>A	c.(1807-1809)Gac>Aac	p.D603N	CTD-2113L7.1_ENST00000510433.1_RNA|SPEF2_ENST00000509059.1_Missense_Mutation_p.D603N|SPEF2_ENST00000356031.3_Missense_Mutation_p.D603N			Q9C093	SPEF2_HUMAN	sperm flagellar 2	603					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)			AGCATTTCATGACAATGAAAA	0.343													A	35692734	G	A	35692734	3	1	574	1	0	0	0	0	1	0	0	0	15131	1290	45	2	1874	2	SPEF2	5	35692734	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35692734	145222526	14	48646											
FAT2	2196	broad.mit.edu	37	chr5	150948306	150948306	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcccactgtggctccgCgaggtagatgcccattttct	6	11	10	14	2	1	1	0	0	1	1	2	2	2	1	3	2	2	2	3	2	1	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr5:150948306C>T	ENST00000261800.5	-	1	199	c.187G>A	c.(187-189)Gcg>Acg	p.A63T		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	63	Cadherin 1.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TGTGGCTCCGCGAGGTAGATG	0.493													T	150948306	C	T	150948306	3	4	574	1	0	0	0	0	1	0	0	0	5739	768	27	1	12954	1	FAT2	5	150948306	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	115255572	150948306	29966954	15	48647											
TNRC18	84629	broad.mit.edu	37	chr7	5372548	5372548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgctggggtcgggaccgCgggcgccaggcgtgggtgcg	2	5	23	11	6	0	0	0	0	0	0	1	1	0	1	2	7	2	2	2	7	0	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:5372548C>T	ENST00000399537.4	-	19	6200	c.5852G>A	c.(5851-5853)cGc>cAc	p.R1951H	TNRC18_ENST00000430969.1_Missense_Mutation_p.R1951H			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1951							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GTCGGGACCGCGGGCGCCAGG	0.751													T	5372548	C	T	5372548	3	4	574	1	0	0	0	0	1	0	0	0	16439	768	27	1	3102	1	TNRC18	7	5372548	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5372548	153766115	16	48648											
VWC2	375567	broad.mit.edu	37	chr7	49842318	49842318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtttcaggtgtctccatgCgagaggtgtcgctgtgaagc	6	12	15	8	2	2	2	1	1	1	1	4	3	2	2	1	2	2	2	1	2	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:49842318C>T	ENST00000340652.4	+	3	1264	c.708C>T	c.(706-708)tgC>tgT	p.C236C		NM_198570.3	NP_940972.2	Q2TAL6	VWC2_HUMAN	von Willebrand factor C domain containing 2		VWFC 2.				negative regulation of BMP signaling pathway|positive regulation of neuron differentiation	basement membrane|extracellular space				cervix(1)|endometrium(2)|large_intestine(1)|lung(3)|prostate(1)	8						TGTCTCCATGCGAGAGGTGTC	0.507													T	49842318	C	T	49842318	2	4	574	1	0	0	0	0	0	0	0	1	17345	776	27	1		1	VWC2	7	49842318	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	44469770	49842318	109296345	17	48649											
COBL	23242	broad.mit.edu	37	chr7	51097053	51097053	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgctcagcttgaagtggCgccagggagtctctcctgct	5	11	13	12	1	2	1	1	1	1	0	4	2	3	2	2	2	3	3	2	2	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:51097053C>T	ENST00000395542.2	-	12	2170	c.1986G>A	c.(1984-1986)gcG>gcA	p.A662A	COBL_ENST00000265136.7_Silent_p.A580A			O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	580										NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					CTTGAAGTGGCGCCAGGGAGT	0.552													T	51097053	C	T	51097053	2	4	574	1	0	0	0	0	0	0	0	1	3684	755	27	1		1	COBL	7	51097053	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1254735	51097053	108041610	18	48650											
ZNF679	168417	broad.mit.edu	37	chr7	63726330	63726330	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctaggcataaaagattcaCtccaaaaagtaataccaaga	20	7	6	8	0	1	2	1	0	0	2	2	2	2	2	2	1	2	3	2	1	8	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr7:63726330C>G	ENST00000421025.1	+	5	588	c.319C>G	c.(319-321)Ctc>Gtc	p.L107V	ZNF679_ENST00000255746.4_Missense_Mutation_p.L107V	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	107					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						AAAAGATTCACTCCAAAAAGT	0.378													G	63726330	C	G	63726330	3	3	574	1	0	0	0	0	1	0	0	0	18187	565	20	4	333	4	ZNF679	7	63726330	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	12629277	63726330	95412333	19	48651											
DLC1	10395	broad.mit.edu	37	chr8	12957837	12957837	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttcaggctctccatcCgtttcagcagactgcgcgtc	6	11	10	14	3	3	2	2	1	1	1	6	2	4	2	2	1	3	4	2	1	0	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr8:12957837C>G	ENST00000276297.4	-	9	2418	c.2009G>C	c.(2008-2010)cGg>cCg	p.R670P	DLC1_ENST00000512044.2_Missense_Mutation_p.R267P|DLC1_ENST00000520226.1_Missense_Mutation_p.R159P|DLC1_ENST00000358919.2_Missense_Mutation_p.R233P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	670					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTCTCCATCCGTTTCAGCAG	0.562													G	12957837	C	G	12957837	3	3	574	1	0	0	0	0	1	0	0	0	4589	652	23	4	2617	4	DLC1	8	12957837	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		12957837	133406185	20	48652											
DOCK8	81704	broad.mit.edu	37	chr9	463659	463659	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaattccagaactgtacaagCcaatattcagagttgagagt	16	10	8	7	0	1	3	1	1	0	3	2	4	2	3	2	0	3	2	2	0	6	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:463659C>A	ENST00000432829.2	+	47	6323	c.6007C>A	c.(6007-6009)Cca>Aca	p.P2003T	RP11-165F24.3_ENST00000591577.1_RNA|RP11-165F24.3_ENST00000608617.1_RNA|DOCK8_ENST00000469391.1_Missense_Mutation_p.P1971T|RP11-165F24.3_ENST00000589387.1_RNA|DOCK8_ENST00000382329.1_Missense_Mutation_p.P1538T|RP11-165F24.3_ENST00000589287.1_RNA|RP11-165F24.3_ENST00000415004.2_RNA|RP11-165F24.3_ENST00000590518.1_RNA|RP11-165F24.3_ENST00000585819.1_RNA|DOCK8_ENST00000453981.1_Missense_Mutation_p.P2071T|RP11-165F24.3_ENST00000593137.1_RNA|RP11-165F24.3_ENST00000588474.1_RNA|RP11-165F24.3_ENST00000592805.1_RNA|RP11-165F24.3_ENST00000586805.1_RNA|RP11-165F24.3_ENST00000588989.1_RNA	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8	2071					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		ACTGTACAAGCCAATATTCAG	0.478													A	463659	C	A	463659	3	1	574	1	0	0	0	0	1	0	0	0	4732	739	26	4	6397	4	DOCK8	9	463659	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		463659	140749772	21	48653											
RRAGA	10670	broad.mit.edu	37	chr9	19049841	19049841	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acctggtgctgaacctgtggGactgtggcggtcaggacacc	7	8	15	11	1	1	1	1	1	0	0	1	3	1	3	3	5	2	1	3	5	1	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:19049841G>T	ENST00000380527.1	+	1	470	c.184G>T	c.(184-186)Gac>Tac	p.D62Y		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	62					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						GAACCTGTGGGACTGTGGCGG	0.542													T	19049841	G	T	19049841	3	4	574	1	0	0	0	0	1	0	0	0	13763	1174	41	4	186	4	RRAGA	9	19049841	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	18586182	19049841	122163590	22	48654											
RUSC2	9853	broad.mit.edu	37	chr9	35560371	35560371	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaggaagaggaagaagAggagacagaagaggtggcag	19	1	19	2	0	0	8	0	0	0	8	0	11	0	10	0	5	0	1	0	5	5	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:35560371A>T	ENST00000455600.1	+	10	4303	c.3734A>T	c.(3733-3735)gAg>gTg	p.E1245V		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1245	Poly-Glu.					cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			gaggaagaagaggagacagaa	0.682													T	35560371	A	T	35560371	3	4	574	1	0	0	0	0	1	0	0	0	13842	304	11	5	3768	5	RUSC2	9	35560371	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	16510530	35560371	105653060	23	48655											
OR13C3	138803	broad.mit.edu	37	chr9	107298219	107298219	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaatcaggtcttgagacttCggtttcgcatacataaagaa	13	11	8	9	2	2	2	1	1	1	2	4	3	2	2	1	2	1	2	1	2	5	5	rs145221004		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr9:107298219C>T	ENST00000374781.2	-	1	918	c.876G>A	c.(874-876)ccG>ccA	p.P292P		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	292					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						CTTGAGACTTCGGTTTCGCAT	0.438													T	107298219	C	T	107298219	2	4	574	1	0	0	0	0	0	0	0	1	11011	871	31	1		1	OR13C3	9	107298219	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	71737848	107298219	33915212	24	48656											
ANK3	288	broad.mit.edu	37	chr10	61835813	61835813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgccagcccttttaagggcGtagcttccgtgactgctgga	7	11	12	11	2	0	1	0	1	0	0	1	2	1	2	3	2	4	3	3	2	2	4	rs148024054	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:61835813G>A	ENST00000280772.2	-	37	5017	c.4826C>T	c.(4825-4827)aCg>aTg	p.T1609M	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTTTAAGGGCGTAGCTTCCGT	0.473													A	61835813	G	A	61835813	3	1	574	1	0	0	0	0	1	0	0	0	622	1145	40	1	8648	1	ANK3	10	61835813	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		61835813	73698934	25	48657											
CDHR1	92211	broad.mit.edu	37	chr10	85970774	85970774	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctcctggctgttgaagtGaacaccccagagaagttcag	11	8	11	11	0	1	3	1	2	0	1	2	4	2	3	3	1	2	4	3	1	3	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:85970774G>A	ENST00000372117.3	+	13	1441	c.1338G>A	c.(1336-1338)gtG>gtA	p.V446V	CDHR1_ENST00000332904.3_Silent_p.V446V|CDHR1_ENST00000440770.2_Intron	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	446	Cadherin 4.				homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						CTGTTGAAGTGAACACCCCAG	0.552													A	85970774	G	A	85970774	2	1	574	1	0	0	0	0	0	0	0	1	3148	1277	45	2		2	CDHR1	10	85970774	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	24134961	85970774	49563973	26	48658											
PTEN	5728	broad.mit.edu	37	chr10	89685307	89685307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataaaaaccattacaagataTacaatctgtaagtatgtttt	18	14	4	5	0	1	1	0	0	1	1	1	1	1	1	1	0	3	3	1	0	10	8			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr10:89685307T>C	ENST00000371953.3	+	3	1559	c.202T>C	c.(202-204)Tac>Cac	p.Y68H		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	68	Phosphatase tensin-type.		Y -> H (in CD and BZS; loss of phosphatase activity towards Ins(1,3,4,5)P4 and PtdIns(3,4,5)P3; retains the ability to bind phospholipid membranes).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.Y68H(8)|p.?(6)|p.R55fs*1(5)|p.Y68N(2)|p.Y68fs*5(2)|p.Y27fs*1(2)|p.I67_Y68insY(1)|p.V54fs*29(1)|p.R55_L70>S(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TTACAAGATATACAATCTGTA	0.274		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89685307	T	C	89685307	3	2	574	1	0	0	0	0	1	0	0	0	12823	1406	49	3	212	3	PTEN	10	89685307	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	3714533	89685307	45849440	27	48659											
HBD	3045	broad.mit.edu	37	chr11	5255603	5255603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccaccaactgcatccaCgttcactttgccccacaggg	9	8	6	18	1	2	0	2	0	0	0	3	0	3	0	5	1	3	2	5	1	1	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:5255603C>T	ENST00000380299.3	-	1	275	c.61G>A	c.(61-63)Gtg>Atg	p.V21M	HBD_ENST00000292901.3_Missense_Mutation_p.V21M	NM_000519.3	NP_000510.1	P02042	HBD_HUMAN	hemoglobin, delta	21			V -> E (in Roosevelt; dbSNP:rs34093840).		blood coagulation	hemoglobin complex	heme binding|oxygen binding|oxygen transporter activity			endometrium(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	16		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;5.69e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACTGCATCCACGTTCACTTTG	0.507													T	5255603	C	T	5255603	3	4	574	1	0	0	0	0	1	0	0	0	7034	536	19	1	394	1	HBD	11	5255603	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		5255603	129750913	28	48660											
OR5M1	390168	broad.mit.edu	37	chr11	56380663	56380663	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactcagtgatcaccagggCgatgaagagaagacactgtg	15	6	12	8	1	2	4	2	2	0	2	2	6	2	4	1	1	1	0	1	1	3	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr11:56380663C>T	ENST00000526538.1	-	1	315	c.316G>A	c.(316-318)Gcc>Acc	p.A106T		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	106					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A106T(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						ATCACCAGGGCGATGAAGAGA	0.448													T	56380663	C	T	56380663	3	4	574	1	0	0	0	0	1	0	0	0	11248	768	27	1	635	1	OR5M1	11	56380663	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	51125060	56380663	78625853	29	48661											
TUBA3C	7278	broad.mit.edu	37	chr13	19752430	19752430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcgacgatctccttgcCgatggtgtaatggcctctgg	6	11	13	11	3	2	0	0	0	2	0	4	3	2	0	3	4	1	1	3	4	1	2	rs140107190		TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr13:19752430C>T	ENST00000400113.3	-	3	435	c.331G>A	c.(331-333)Ggc>Agc	p.G111S		NM_006001.2	NP_005992.1	Q13748	TBA3C_HUMAN	tubulin, alpha 3c	111					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|protein binding|structural molecule activity	p.G111S(1)		NS(1)|biliary_tract(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(33)|ovary(4)|prostate(7)|skin(7)|urinary_tract(1)	72		all_cancers(29;1.31e-20)|all_epithelial(30;1.59e-20)|all_lung(29;6.91e-20)|Lung NSC(5;9.25e-17)|Hepatocellular(1;0.0207)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;6.78e-06)|Epithelial(112;3.79e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00172)|Lung(94;0.0186)|LUSC - Lung squamous cell carcinoma(192;0.108)		ATCTCCTTGCCGATGGTGTAA	0.542													T	19752430	C	T	19752430	3	4	574	1	0	0	0	0	1	0	0	0	16848	652	23	1	1033	1	TUBA3C	13	19752430	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		19752430	95417448	30	48662											
TMEM229B	161145	broad.mit.edu	37	chr14	67940541	67940541	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccagttcaagttcaccaCgaactcccaggccgctgtga	9	9	8	15	2	2	1	2	1	0	0	4	2	4	1	4	1	1	3	4	1	2	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:67940541C>T	ENST00000357461.2	-	3	509	c.100G>A	c.(100-102)Gtg>Atg	p.V34M	TMEM229B_ENST00000557006.1_Missense_Mutation_p.V34M	NM_182526.2	NP_872332.1	Q8NBD8	T229B_HUMAN	transmembrane protein 229B	34						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AAGTTCACCACGAACTCCCAG	0.617													T	67940541	C	T	67940541	3	4	574	1	0	0	0	0	1	0	0	0	16248	536	19	1	407	1	TMEM229B	14	67940541	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		67940541	39408999	31	48663											
LTBP2	4053	broad.mit.edu	37	chr14	75022287	75022287	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggtcccgggggcagggCgttggaagagagctggctac	6	6	19	10	2	0	1	0	0	0	1	1	3	1	2	2	6	2	4	2	6	2	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:75022287C>T	ENST00000261978.4	-	4	1326	c.940G>A	c.(940-942)Gcc>Acc	p.A314T	CTD-2207P18.1_ENST00000554552.1_lincRNA|LTBP2_ENST00000557425.1_Intron|LTBP2_ENST00000556690.1_Missense_Mutation_p.A314T	NM_000428.2	NP_000419.1	Q14767	LTBP2_HUMAN	latent transforming growth factor beta binding protein 2	314					protein secretion|protein targeting|transforming growth factor beta receptor signaling pathway	extracellular space|proteinaceous extracellular matrix	calcium ion binding|growth factor binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|liver(1)|lung(29)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				BRCA - Breast invasive adenocarcinoma(234;0.00219)|READ - Rectum adenocarcinoma(1;0.0649)		GGGGGCAGGGCGTTGGAAGAG	0.652													T	75022287	C	T	75022287	3	4	574	1	0	0	0	0	1	0	0	0	9144	768	27	1	4657	1	LTBP2	14	75022287	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	7081746	75022287	32327253	32	48664											
ESRRB	2103	broad.mit.edu	37	chr14	76905888	76905888	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgccacccatgtttgcaggCgccgggctgggaggcacccc	5	6	14	16	3	0	0	0	0	0	0	1	1	0	1	5	4	1	4	5	4	0	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr14:76905888C>T	ENST00000380887.2	+	2	264	c.192C>T	c.(190-192)ggC>ggT	p.G64G	ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000509242.1_Silent_p.G64G|ESRRB_ENST00000261532.7_Silent_p.G64G|ESRRB_ENST00000556177.1_Silent_p.G64G			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	64						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		TGTTTGCAGGCGCCGGGCTGG	0.677													T	76905888	C	T	76905888	2	4	574	1	0	0	0	0	0	0	0	1	5302	755	27	1		1	ESRRB	14	76905888	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1883601	76905888	30443652	33	48665											
TCF12	6938	broad.mit.edu	37	chr15	57554314	57554315	+	Frame_Shift_Ins	INS	-	-	T																															ggaactcatcgggaagactcINStgtcagtctcaatggcaatc																										TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr15:57554314_57554315insT	ENST00000267811.5	+	16	1722_1723	c.1418_1419insT	c.(1417-1422)tctgtcfs	p.V474fs	TCF12_ENST00000543579.1_Frame_Shift_Ins_p.V328fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.V304fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.V474fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.V494fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.V498fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.V498fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.V238fs|TCF12_ENST00000559703.1_Frame_Shift_Ins_p.V132fs|TCF12_ENST00000559710.1_Frame_Shift_Ins_p.V108fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	474					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.S497fs*12(1)	TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CGGGAAGACTCTGTCAGTCTCA	0.351			T	TEC	extraskeletal myxoid chondrosarcoma								T	57554315	-	T	57554314	7	5	574	1	0	1	1	0	0	0	0	0	15787	913	32	0	1625	0	TCF12	15	57554314	Frame_Shift_Ins	INS	-	TCGA-HT-8011-01A-11D-2395-08		57554314	44977078	34	48666											
HS3ST6	64711	broad.mit.edu	37	chr16	1962140	1962140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcggcggggggcctctcgCgtcacgaagtagctgggggt	5	7	19	10	5	2	0	1	0	1	0	3	1	2	0	1	6	2	2	1	6	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:1962140C>T	ENST00000454677.2	-	2	596	c.531G>A	c.(529-531)acG>acA	p.T177T	HS3ST6_ENST00000293937.3_Silent_p.T160T|HS3ST6_ENST00000443547.1_Silent_p.T129T			C9JH64	C9JH64_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 6	129										endometrium(2)|lung(2)	4						GGGCCTCTCGCGTCACGAAGT	0.672													T	1962140	C	T	1962140	2	4	574	1	0	0	0	0	0	0	0	1	7424	755	27	1		1	HS3ST6	16	1962140	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		1962140	88392613	35	48667											
CREBBP	1387	broad.mit.edu	37	chr16	3828795	3828795	+	Frame_Shift_Del	DEL	G	G	-																															cctttagagctgcgggatcaGgtgttgggaagatggcttgg																										TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:3828795delG	ENST00000262367.5	-	9	2656	c.1847delC	c.(1846-1848)cctfs	p.P616fs	CREBBP_ENST00000382070.3_Frame_Shift_Del_p.P578fs	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	616	KIX.				cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.P616R(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		TGCGGGATCAGGTGTTGGGAA	0.468			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						-	3828795	G	-	3828795	7	5	574	1	0	1	0	1	0	0	0	0	3892	1000	35	0	5573	0	CREBBP	16	3828795	Frame_Shift_Del	DEL	G	TCGA-HT-8011-01A-11D-2395-08	1866655	3828795	86525958	36	48668											
NFAT5	10725	broad.mit.edu	37	chr16	69689703	69689703	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaacaacatgacactggcGtaagtacttagtaagaattt	16	10	8	7	1	0	2	0	1	0	1	0	2	0	2	0	1	4	4	0	1	7	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr16:69689703G>A	ENST00000349945.1	+	7	2466		c.e7+1		NFAT5_ENST00000567239.1_Splice_Site|NFAT5_ENST00000566899.1_Splice_Site|NFAT5_ENST00000393742.2_Splice_Site|NFAT5_ENST00000432919.1_Splice_Site|NFAT5_ENST00000354436.2_Splice_Site	NM_138714.3	NP_619728.2	O94916	NFAT5_HUMAN	nuclear factor of activated T-cells 5, tonicity-responsive						excretion|signal transduction|transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						TGACACTGGCGTAAGTACTTA	0.353													A	69689703	G	A	69689703	5	1	574	1	0	0	0	0	0	0	1	0	10436	1159	40	1	1219	1	NFAT5	16	69689703	Splice_Site	SNP	G	TCGA-HT-8011-01A-11D-2395-08	65860908	69689703	20665050	37	48669											
TMEM99	147184	broad.mit.edu	37	chr17	38991040	38991040	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcttgcggtcatcggtTgagagaaggacttcttcttc	6	15	12	8	2	3	2	1	1	2	1	5	4	3	3	0	3	2	2	0	3	1	6			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:38991040T>A	ENST00000301665.3	+	3	576	c.272T>A	c.(271-273)tTg>tAg	p.L91*		NM_001195386.1|NM_001195387.1|NM_145274.3	NP_001182315.1|NP_001182316.1|NP_660317.2	Q8N816	TMM99_HUMAN	transmembrane protein 99	91						integral to membrane				cervix(1)|large_intestine(1)|lung(5)|skin(2)|urinary_tract(1)	10		Breast(137;0.000301)				GGTCATCGGTTGAGAGAAGGA	0.458													A	38991040	T	A	38991040	4	1	574	1	0	0	0	0	0	1	0	0	16326	1821	63	5	274	5	TMEM99	17	38991040	Nonsense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08		38991040	42204170	38	48670											
ACE	1636	broad.mit.edu	37	chr17	61557154	61557154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccaacatcctggcttcctCgcgaagctacgccatgctcc	8	8	7	18	3	0	0	0	0	0	0	4	1	3	0	5	1	4	3	5	1	3	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr17:61557154C>T	ENST00000290866.4	+	4	560	c.536C>T	c.(535-537)tCg>tTg	p.S179L	ACE_ENST00000584529.1_3'UTR|ACE_ENST00000428043.1_Missense_Mutation_p.S179L|ACE_ENST00000538928.1_Missense_Mutation_p.S179L	NM_000789.3	NP_000780.1	P12821	ACE_HUMAN	angiotensin I converting enzyme	179	Peptidase M2 1.				arachidonic acid secretion|hormone catabolic process|kidney development|peptide catabolic process|regulation of smooth muscle cell migration	endosome|external side of plasma membrane|extracellular space|integral to membrane|membrane fraction|plasma membrane	actin binding|bradykinin receptor binding|carboxypeptidase activity|chloride ion binding|drug binding|metallopeptidase activity|peptidyl-dipeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(3)|lung(22)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	51					Benazepril(DB00542)|Captopril(DB01197)|Deserpidine(DB01089)|Enalapril(DB00584)|Fosinopril(DB00492)|Lisinopril(DB00722)|Moexipril(DB00691)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Rescinnamine(DB01180)|Spirapril(DB01348)|Trandolapril(DB00519)	CTGGCTTCCTCGCGAAGCTAC	0.602													T	61557154	C	T	61557154	3	4	574	1	0	0	0	0	1	0	0	0	136	893	31	1	550	1	ACE	17	61557154	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	22566114	61557154	19638056	39	48671											
DSG3	1830	broad.mit.edu	37	chr18	29038477	29038477	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtgggaatcgatcagccgCcttttggaatctttgttgtt	7	15	12	7	2	2	0	1	0	1	0	3	4	2	2	2	2	1	2	2	2	2	5			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:29038477C>A	ENST00000257189.4	+	4	369	c.286C>A	c.(286-288)Cct>Act	p.P96T		NM_001944.2	NP_001935.2	P32926	DSG3_HUMAN	desmoglein 3	96	Cadherin 1.				cellular component disassembly involved in apoptosis|homophilic cell adhesion	cytosol|desmosome|integral to membrane	calcium ion binding			breast(1)|central_nervous_system(2)|cervix(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(28)|ovary(4)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CGATCAGCCGCCTTTTGGAAT	0.443													A	29038477	C	A	29038477	3	1	574	1	0	0	0	0	1	0	0	0	4817	739	26	4	300	4	DSG3	18	29038477	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08		29038477	49038771	40	48672											
TCEB3C	162699	broad.mit.edu	37	chr18	44555313	44555313	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggagcgctggcgcggAgagtgcttctgggtttgcct	3	11	16	11	3	1	1	0	0	1	1	2	3	2	2	2	4	3	3	2	4	0	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr18:44555313A>G	ENST00000330682.2	-	1	1136	c.901T>C	c.(901-903)Tcc>Ccc	p.S301P	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000356157.7_Intron	NM_145653.3	NP_663628.2	Q8NG57	ELOA3_HUMAN	transcription elongation factor B polypeptide 3C (elongin A3)	301				S -> C (in Ref. 1; BAC01113).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane|nucleus	DNA binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(1)|lung(16)|skin(2)	30						GCTGGCGCGGAGAGTGCTTCT	0.632													G	44555313	A	G	44555313	3	3	574	1	0	0	0	0	1	0	0	0	15783	304	11	3	2386	3	TCEB3C	18	44555313	Missense_Mutation	SNP	A	TCGA-HT-8011-01A-11D-2395-08	15516836	44555313	33521935	41	48673											
ZNF560	147741	broad.mit.edu	37	chr19	9578276	9578276	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattatgaactctcaaatgTccaaaaagagatgggtaaga	17	9	8	7	0	1	3	1	1	1	2	3	4	2	3	2	1	1	1	2	1	6	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:9578276T>A	ENST00000301480.4	-	10	1560	c.1347A>T	c.(1345-1347)ggA>ggT	p.G449G		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	449					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						CTCTCAAATGTCCAAAAAGAG	0.398													A	9578276	T	A	9578276	2	1	574	1	0	0	0	0	0	0	0	1	18092	1654	58	5		5	ZNF560	19	9578276	Silent	SNP	T	TCGA-HT-8011-01A-11D-2395-08		9578276	49550707	42	48674											
CRTC1	23373	broad.mit.edu	37	chr19	18888133	18888133	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgcacatgctcaacgacCccgacatggttctggccgac	9	7	10	15	3	2	0	1	0	1	0	2	4	2	0	3	2	3	3	3	2	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:18888133C>A	ENST00000338797.6	+	15	1919	c.1894C>A	c.(1894-1896)Ccc>Acc	p.P632T	CRTC1_ENST00000594658.1_Missense_Mutation_p.P575T|CRTC1_ENST00000321949.8_Missense_Mutation_p.P616T|CRTC1_ENST00000601916.1_Missense_Mutation_p.P374T	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	616					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						GCTCAACGACCCCGACATGGT	0.682													A	18888133	C	A	18888133	3	1	574	1	0	0	0	0	1	0	0	0	3930	623	22	4	1952	4	CRTC1	19	18888133	Missense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	9309857	18888133	40240850	43	48675											
ZNF681	148213	broad.mit.edu	37	chr19	23926730	23926730	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgaggaatggttaaaggctTtgccacattcttcacatgtg	10	13	11	7	0	2	1	1	1	1	0	2	2	2	2	1	3	1	2	1	3	3	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:23926730T>A	ENST00000402377.3	-	4	1763	c.1622A>T	c.(1621-1623)aAa>aTa	p.K541I	ZNF681_ENST00000395385.3_Missense_Mutation_p.K472I	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				GTTAAAGGCTTTGCCACATTC	0.393													A	23926730	T	A	23926730	3	1	574	1	0	0	0	0	1	0	0	0	18189	1841	64	5	319	5	ZNF681	19	23926730	Missense_Mutation	SNP	T	TCGA-HT-8011-01A-11D-2395-08	5038597	23926730	35202253	44	48676											
PSG8	440533	broad.mit.edu	37	chr19	43258728	43258728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggtaaattctggggaGgtctggaccatctggagcaa	11	9	15	6	0	3	1	0	1	3	0	3	4	3	4	1	6	1	2	1	6	4	2	rs138526624	byFrequency	TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:43258728G>T	ENST00000404209.4	-	5	1096	c.1000C>A	c.(1000-1002)Ctc>Atc	p.L334I	PSG8_ENST00000306511.4_Missense_Mutation_p.L334I|PSG8_ENST00000401467.2_Missense_Mutation_p.L241I|PSG8_ENST00000406636.3_Missense_Mutation_p.L212I|PSG8_ENST00000600709.1_5'UTR	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	334						extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				ATTCTGGGGAGGTCTGGACCA	0.502													T	43258728	G	T	43258728	3	4	574	1	0	0	0	0	1	0	0	0	12746	1000	35	4	305	4	PSG8	19	43258728	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	19331998	43258728	15870255	45	48677											
GPR32	2854	broad.mit.edu	37	chr19	51274118	51274118	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccacctggcccttgcCgatttcatgctctcactgtc	4	15	6	16	1	3	0	2	0	2	0	6	1	4	0	4	1	2	1	4	1	0	4			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:51274118C>T	ENST00000270590.4	+	1	398	c.261C>T	c.(259-261)gcC>gcT	p.A87A		NM_001506.1	NP_001497.1	O75388	GPR32_HUMAN	G protein-coupled receptor 32	87						integral to plasma membrane	N-formyl peptide receptor activity			breast(4)|endometrium(4)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	29		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00641)|GBM - Glioblastoma multiforme(134;0.028)		TGGCCCTTGCCGATTTCATGC	0.562													T	51274118	C	T	51274118	2	4	574	1	0	0	0	0	0	0	0	1	6742	639	23	1		1	GPR32	19	51274118	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08	8015390	51274118	7854865	46	48678											
LILRB2	10288	broad.mit.edu	37	chr19	54778558	54778558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtggatggccagggtggcGtagatgctgggctcagctgg	6	9	19	7	1	1	1	1	0	0	1	1	2	1	2	1	6	2	4	1	6	2	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54778558G>A	ENST00000391748.1	-	14	1900	c.1773C>T	c.(1771-1773)taC>taT	p.Y591Y	LILRB2_ENST00000314446.5_Silent_p.Y591Y|LILRB2_ENST00000434421.1_Silent_p.Y476Y|LILRB2_ENST00000391749.4_Silent_p.Y592Y|LILRB2_ENST00000391746.1_3'UTR	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	592					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCAGGGTGGCGTAGATGCTGG	0.617													A	54778558	G	A	54778558	2	1	574	1	0	0	0	0	0	0	0	1	8851	1140	40	1		1	LILRB2	19	54778558	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08	3504440	54778558	4350425	47	48679											
LILRB2	10288	broad.mit.edu	37	chr19	54780127	54780127	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcactcacagaggttttCttcctgggcgtcggcagctg	5	12	11	13	2	3	1	2	0	2	1	6	1	4	1	1	3	1	3	1	3	0	3			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr19:54780127C>A	ENST00000391748.1	-	12	1712	c.1585G>T	c.(1585-1587)Gaa>Taa	p.E529*	LILRB2_ENST00000314446.5_Nonsense_Mutation_p.E529*|LILRB2_ENST00000434421.1_Nonsense_Mutation_p.E414*|LILRB2_ENST00000391749.4_Nonsense_Mutation_p.E530*|LILRB2_ENST00000391746.1_Missense_Mutation_p.K504N	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	530					cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CAGAGGTTTTCTTCCTGGGCG	0.627													A	54780127	C	A	54780127	4	1	574	1	0	0	0	0	0	1	0	0	8851	922	32	4	220	4	LILRB2	19	54780127	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	1569	54780127	4348856	48	48680											
WISP2	8839	broad.mit.edu	37	chr20	43344046	43344046	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggggacatgagaggcacaccGaagacccacctcctggcctt	10	5	12	14	1	0	2	0	1	0	2	1	5	1	3	5	4	0	1	5	4	1	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:43344046G>A	ENST00000372868.2	+	2	358	c.15G>A	c.(13-15)ccG>ccA	p.P5P	RP11-445H22.4_ENST00000427303.1_RNA|WISP2_ENST00000372865.4_Silent_p.P5P|WISP2_ENST00000190983.4_Silent_p.P5P|RP11-445H22.4_ENST00000445420.1_RNA|RP11-445H22.4_ENST00000427598.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	5					cell adhesion|cell-cell signaling|signal transduction	extracellular region|soluble fraction	insulin-like growth factor binding			skin(1)	1		Myeloproliferative disorder(115;0.0122)				GAGGCACACCGAAGACCCACC	0.612													A	43344046	G	A	43344046	2	1	574	1	0	0	0	0	0	0	0	1	17475	1045	37	1		1	WISP2	20	43344046	Silent	SNP	G	TCGA-HT-8011-01A-11D-2395-08		43344046	19681474	49	48681											
GNAS	2778	broad.mit.edu	37	chr20	57428501	57428501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaacgagcccatccccGtcgagaatgatggcgaggcc	10	5	11	15	4	1	2	1	1	0	1	3	5	2	2	4	2	2	0	4	2	2	0			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr20:57428501G>A	ENST00000371100.4	+	1	733	c.181G>A	c.(181-183)Gtc>Atc	p.V61I	GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371099.2_Missense_Mutation_p.V61I|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371102.4_Missense_Mutation_p.V61I|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371075.3_Intron	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GCCCATCCCCGTCGAGAATGA	0.642			Mis		pituitary adenoma		"McCune-Albright syndrome; pseudohypoparathyroidism, type IA"			TSP Lung(22;0.16)			A	57428501	G	A	57428501	3	1	574	1	0	0	0	0	1	0	0	0	6566	1145	40	1	925	1	GNAS	20	57428501	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08	14084455	57428501	5597019	50	48682											
TEF	7008	broad.mit.edu	37	chr22	41791868	41791868	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttcctggagaaggagaaCacagccctgcggacggaggt	10	5	15	11	2	0	2	0	0	0	2	1	6	1	4	3	5	3	0	3	5	2	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chr22:41791868C>T	ENST00000266304.4	+	4	932	c.816C>T	c.(814-816)aaC>aaT	p.N272N	TEF_ENST00000406644.3_Silent_p.N242N	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	272	Leucine-zipper.				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						AGAAGGAGAACACAGCCCTGC	0.587													T	41791868	C	T	41791868	2	4	574	1	0	0	0	0	0	0	0	1	15850	477	17	2		2	TEF	22	41791868	Silent	SNP	C	TCGA-HT-8011-01A-11D-2395-08		41791868	9512698	51	48683											
MAGEB16	139604	broad.mit.edu	37	chrX	35821247	35821247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccatctcagtatgcggaaGctctgaaagaggaagaagag	14	7	12	8	1	2	4	1	1	2	3	4	6	3	6	1	2	2	2	1	2	5	1			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:35821247G>T	ENST00000399989.1	+	2	1213	c.934G>T	c.(934-936)Gct>Tct	p.A312S	MAGEB16_ENST00000399987.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399988.1_Missense_Mutation_p.A312S|MAGEB16_ENST00000399992.1_Missense_Mutation_p.A344S|MAGEB16_ENST00000399985.1_Missense_Mutation_p.A312S	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	312	MAGE.									breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GTATGCGGAAGCTCTGAAAGA	0.488													T	35821247	G	T	35821247	3	4	574	1	0	0	0	0	1	0	0	0	9249	971	34	4	936	4	MAGEB16	23	35821247	Missense_Mutation	SNP	G	TCGA-HT-8011-01A-11D-2395-08		35821247	119449313	52	48684											
STAG2	10735	broad.mit.edu	37	chrX	123179197	123179197	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcacaagtcagagcatttCgacatacaagcaccctggca	14	7	7	13	1	2	1	2	0	0	1	3	2	2	1	1	1	3	3	1	1	3	2			TCGA-HT-8011-01A-11D-2395-08	TCGA-HT-8011-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bbe11ade-61db-4377-80b8-085c8a012162	8f7801c3-5cc4-41ac-a7db-4969f6ea56b7	g.chrX:123179197C>T	ENST00000371160.1	+	8	936	c.646C>T	c.(646-648)Cga>Tga	p.R216*	STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Nonsense_Mutation_p.R216*|STAG2_ENST00000371144.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000354548.5_Nonsense_Mutation_p.R147*|STAG2_ENST00000371145.3_Nonsense_Mutation_p.R216*|STAG2_ENST00000371157.3_Nonsense_Mutation_p.R216*	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	216					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						CAGAGCATTTCGACATACAAG	0.343													T	123179197	C	T	123179197	4	4	574	1	0	0	0	0	0	1	0	0	15339	876	31	1	668	1	STAG2	23	123179197	Nonsense_Mutation	SNP	C	TCGA-HT-8011-01A-11D-2395-08	87357950	123179197	32091363	53	48685											
CCDC27	148870	broad.mit.edu	37	chr1	3677958	3677958	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaatgccttctgaaaggCaaaggccaagagacatccat	15	7	9	10	0	1	3	0	2	1	1	2	4	2	3	3	2	1	1	3	2	4	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:3677958C>G	ENST00000294600.2	+	5	909	c.825C>G	c.(823-825)ggC>ggG	p.G275G		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	275										breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		TTCTGAAAGGCAAAGGCCAAG	0.567													G	3677958	C	G	3677958	2	3	575	1	0	0	0	0	0	0	0	1	2828	697	25	4		4	CCDC27	1	3677958	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		3677958	245572663	1	48686											
OMA1	115209	broad.mit.edu	37	chr1	58999969	58999969	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtatcgggcatctttcTcagttagcatatcattttta	9	16	7	9	1	3	0	2	0	2	0	5	0	3	0	1	2	1	4	1	2	4	7			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:58999969T>C	ENST00000371226.3	-	4	877	c.764A>G	c.(763-765)gAg>gGg	p.E255G	DAB1_ENST00000485760.1_Intron|OMA1_ENST00000467063.1_5'UTR|OMA1_ENST00000358603.2_Missense_Mutation_p.E255G	NM_145243.3	NP_660286.1	Q96E52	OMA1_HUMAN	OMA1 zinc metallopeptidase	255					proteolysis	integral to membrane|mitochondrial membrane	metal ion binding|metalloendopeptidase activity			NS(1)|breast(1)|large_intestine(6)|liver(2)|lung(6)|prostate(1)|skin(1)	18	all_cancers(7;6.54e-05)					GGCATCTTTCTCAGTTAGCAT	0.338													C	58999969	T	C	58999969	3	2	575	1	0	0	0	0	1	0	0	0	10940	1551	54	3	834	3	OMA1	1	58999969	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08	55322011	58999969	190250652	2	48687											
NTRK1	4914	broad.mit.edu	37	chr1	156841489	156841489	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaacaggaagaacgtgacGtgctgggcagagaacgatgt	13	6	14	8	3	1	3	1	1	0	2	1	6	1	4	0	2	4	2	0	2	4	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr1:156841489G>A	ENST00000368196.3	+	7	912	c.792G>A	c.(790-792)acG>acA	p.T264T	NTRK1_ENST00000358660.3_Silent_p.T264T|NTRK1_ENST00000524377.1_Silent_p.T264T|NTRK1_ENST00000392302.2_Silent_p.T234T	NM_001012331.1	NP_001012331.1	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	264	Ig-like C2-type 1.				activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	AGAACGTGACGTGCTGGGCAG	0.592			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			A	156841489	G	A	156841489	2	1	575	1	0	0	0	0	0	0	0	1	10782	1132	40	1		1	NTRK1	1	156841489	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	97841520	156841489	92409132	3	48688											
IL1RL1	9173	broad.mit.edu	37	chr2	102959762	102959762	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctggcttgtctagacatggTtttaagaatagctgacgtga	10	13	12	6	1	1	4	0	2	1	2	1	4	1	4	0	2	1	4	0	2	4	5			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:102959762T>A	ENST00000311734.2	+	8	1196	c.857T>A	c.(856-858)gTt>gAt	p.V286D	IL1RL1_ENST00000409584.1_Missense_Mutation_p.V272D|IL1RL1_ENST00000404917.2_Missense_Mutation_p.V169D|IL1RL1_ENST00000233954.1_Missense_Mutation_p.V286D	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	286	Ig-like C2-type 3.				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						CTAGACATGGTTTTAAGAATA	0.453													A	102959762	T	A	102959762	3	1	575	1	0	0	0	0	1	0	0	0	7721	1725	60	5	883	5	IL1RL1	2	102959762	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		102959762	140239611	4	48689											
TFCP2L1	29842	broad.mit.edu	37	chr2	122005806	122005806	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcattcagctgggtcggGctggccctggggtccaagat	6	9	15	11	1	1	1	1	0	0	1	3	1	2	1	2	5	2	3	2	5	1	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:122005806G>A	ENST00000263707.5	-	5	535	c.438C>T	c.(436-438)agC>agT	p.S146S		NM_014553.2	NP_055368.1	Q9NZI6	TF2L1_HUMAN	transcription factor CP2-like 1	146					female pregnancy|steroid biosynthetic process	mitochondrion|nucleolus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			cervix(1)|endometrium(4)|large_intestine(5)|lung(7)|ovary(1)|pancreas(2)|skin(1)|stomach(1)	22	Renal(3;0.01)					GCTGGGTCGGGCTGGCCCTGG	0.527													A	122005806	G	A	122005806	2	1	575	1	0	0	0	0	0	0	0	1	15896	1194	42	2		2	TFCP2L1	2	122005806	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	19046044	122005806	121193567	5	48690											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	575	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	87107306	209113112	34086261	6	48691											
CHRND	1144	broad.mit.edu	37	chr2	233393356	233393356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgactggcagaactgctccCtcaagttcaggtgtgccctt	7	11	10	13	1	2	1	2	0	0	1	4	2	3	1	2	2	3	3	2	2	2	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr2:233393356C>T	ENST00000258385.3	+	5	531	c.499C>T	c.(499-501)Ctc>Ttc	p.L167F	CHRND_ENST00000543200.1_Missense_Mutation_p.L152F|CHRND_ENST00000457943.2_Silent_p.P76P|CHRND_ENST00000536614.1_Missense_Mutation_p.L167F	NM_000751.2	NP_000742.1	Q07001	ACHD_HUMAN	cholinergic receptor, nicotinic, delta (muscle)	167					muscle contraction|musculoskeletal movement|neuromuscular process|skeletal muscle tissue growth|synaptic transmission	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	nicotinic acetylcholine-activated cation-selective channel activity|receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)	34		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;1.89e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00078)|Lung(119;0.00579)|LUSC - Lung squamous cell carcinoma(224;0.00754)		GAACTGCTCCCTCAAGTTCAG	0.592													T	233393356	C	T	233393356	3	4	575	1	0	0	0	0	1	0	0	0	3424	681	24	2	517	2	CHRND	2	233393356	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	24280244	233393356	9806017	7	48692											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000503313.1_5'UTR|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000358102.3_Silent_p.P697P|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000511528.1_Silent_p.P701P			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													G	149075976	T	G	149075976	2	3	575	1	0	0	0	0	0	0	0	1	10707	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-HT-8012-01A-11D-2395-08		149075976	42078300	8	48693											
PARK2	5071	broad.mit.edu	37	chr6	161781238	161781238	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcatcgactctgtaggcCtggggaaacaaagaggaaag	13	8	12	8	1	2	1	1	0	1	1	3	4	2	3	1	4	1	1	1	4	4	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr6:161781238C>T	ENST00000366898.1	-	11	1270		c.e11-1		PARK2_ENST00000366894.1_Splice_Site|PARK2_ENST00000338468.3_Splice_Site|PARK2_ENST00000366896.1_Splice_Site|PARK2_ENST00000366897.1_Splice_Site	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase						aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		CTCTGTAGGCCTGGGGAAACA	0.507													T	161781238	C	T	161781238	5	4	575	1	0	0	0	0	0	0	1	0	11525	695	24	2	238	2	PARK2	6	161781238	Splice_Site	SNP	C	TCGA-HT-8012-01A-11D-2395-08		161781238	9333829	9	48694											
PMPCB	9512	broad.mit.edu	37	chr7	102948108	102948109	+	Frame_Shift_Del	DEL	AA	AA	-																															gtgactctttatgcacacacAaaggagaaataccagctctg																								rs141254128		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr7:102948108_102948109delAA	ENST00000249269.4	+	7	840_841	c.802_803delAA	c.(802-804)aaafs	p.K268fs	PMPCB_ENST00000420236.2_Frame_Shift_Del_p.K163fs|PMPCB_ENST00000428154.1_Frame_Shift_Del_p.K268fs	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	268					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCACACACAAAGGAGAAATA	0.396													-	102948109	AA	-	102948108	7	5	575	1	0	1	0	1	0	0	0	0	12218	131	5	0	828	0	PMPCB	7	102948108	Frame_Shift_Del	DEL	AA	TCGA-HT-8012-01A-11D-2395-08		102948108	56190555	10	48695											
PTK2B	2185	broad.mit.edu	37	chr8	27310644	27310644	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	attgcagtggagttcacaggGcccccacagaagcccccgag	10	5	12	14	1	1	1	1	0	0	1	1	3	1	2	4	2	2	2	4	2	1	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr8:27310644G>A	ENST00000397501.1	+	33	3370	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G	PTK2B_ENST00000346049.5_Silent_p.G854G|PTK2B_ENST00000544172.1_Silent_p.G854G|PTK2B_ENST00000517339.1_Silent_p.G812G|PTK2B_ENST00000420218.2_Silent_p.G812G|PTK2B_ENST00000338238.4_Silent_p.G812G	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	854	Interaction with TGFB1I1 (By similarity).|Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGTTCACAGGGCCCCCACAGA	0.542													A	27310644	G	A	27310644	2	1	575	1	0	0	0	0	0	0	0	1	12849	1190	42	2		2	PTK2B	8	27310644	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		27310644	119053378	11	48696											
PCSK5	5125	broad.mit.edu	37	chr9	78790119	78790119	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacatgggagaacagAatggaatggaatggaatgaa	17	5	12	7	0	0	3	0	1	0	2	0	7	0	6	2	4	1	0	2	4	6	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:78790119A>G	ENST00000376767.3	+	14	2486	c.1974A>G	c.(1972-1974)agA>agG	p.R658R	PCSK5_ENST00000376752.4_Intron|PCSK5_ENST00000545128.1_Intron			Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	0	CRM (Cys-rich motif).				anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GGGAgaacagaatggaatgga	0.443													G	78790119	A	G	78790119	2	3	575	1	0	0	0	0	0	0	0	1	11679	261	9	3		3	PCSK5	9	78790119	Silent	SNP	A	TCGA-HT-8012-01A-11D-2395-08		78790119	62423312	12	48697											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	575	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-HT-8012-01A-11D-2395-08	60622951	139413070	1800361	13	48698											
DLG5	9231	broad.mit.edu	37	chr10	79601943	79601943	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcagctcatggtggatcGcctcaaacctggcaagagag	10	9	12	10	1	3	1	3	0	0	1	4	3	3	2	2	3	2	3	2	3	2	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr10:79601943G>A	ENST00000372391.2	-	7	1138	c.1133C>T	c.(1132-1134)gCg>gTg	p.A378V	DLG5_ENST00000372388.2_Missense_Mutation_p.A378V	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	378					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			ATGGTGGATCGCCTCAAACCT	0.652													A	79601943	G	A	79601943	3	1	575	1	0	0	0	0	1	0	0	0	4597	1087	38	1	4730	1	DLG5	10	79601943	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		79601943	55932804	14	48699											
MUC5B	727897	broad.mit.edu	37	chr11	1264405	1264405	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccatcccggggaccAcccacaccgccacagtgctg	7	5	8	21	2	0	0	0	0	0	0	3	1	3	1	8	2	1	1	8	2	0	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:1264405A>C	ENST00000447027.1	+	31	6362	c.6304A>C	c.(6304-6306)Acc>Ccc	p.T2102P	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Missense_Mutation_p.T2099P			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2099	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			A -> P (in Ref. 4; CAA96577).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCCGGGGACCACCCACACCGC	0.632													C	1264405	A	C	1264405	3	2	575	1	0	0	0	0	1	0	0	0	10055	159	6	5	6426	5	MUC5B	11	1264405	Missense_Mutation	SNP	A	TCGA-HT-8012-01A-11D-2395-08		1264405	133742111	15	48700											
IGF2	3481	broad.mit.edu	37	chr11	2154242	2154242	+	Frame_Shift_Del	DEL	G	G	-																															tccgattgctggccatctctGggggggcgcccccgtgggcg																								rs1050342		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:2154242delG	ENST00000416167.2	-	4	1684	c.518delC	c.(517-519)ccafs	p.P173fs	IGF2_ENST00000381406.4_Frame_Shift_Del_p.P176fs|IGF2_ENST00000381392.1_Frame_Shift_Del_p.P176fs|IGF2_ENST00000381395.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000434045.2_Frame_Shift_Del_p.P229fs|IGF2_ENST00000300632.5_Frame_Shift_Del_p.P173fs|IGF2_ENST00000381389.1_Frame_Shift_Del_p.P173fs|IGF2_ENST00000418738.2_Frame_Shift_Del_p.P173fs			P01344	IGF2_HUMAN	insulin-like growth factor 2 (somatomedin A)	173			P -> Q (in dbSNP:rs1050342).		glucose metabolic process|ossification|phosphatidylinositol 3-kinase cascade involved in insulin receptor signaling|positive regulation of activated T cell proliferation|positive regulation of cell division|positive regulation of glycogen (starch) synthase activity|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|regulation of gene expression by genetic imprinting|regulation of transcription, DNA-dependent|skeletal system development	extracellular space	growth factor activity|hormone activity|insulin receptor binding|insulin-like growth factor receptor binding|protein serine/threonine kinase activator activity|receptor activator activity			central_nervous_system(1)|kidney(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	6		all_epithelial(84;5.04e-06)|Breast(177;0.000777)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)|all_lung(207;0.24)	Colorectal(5;0.0179)|COAD - Colon adenocarcinoma(6;0.029)	BRCA - Breast invasive adenocarcinoma(625;1.09e-05)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		GGCCATCTCTGGGGGGGCGCC	0.657													-	2154242	G	-	2154242	7	5	575	1	0	1	0	1	0	0	0	0	7630	1348	47	0	28	0	IGF2	11	2154242	Frame_Shift_Del	DEL	G	TCGA-HT-8012-01A-11D-2395-08	889837	2154242	132852274	16	48701											
OR1S2	219958	broad.mit.edu	37	chr11	57970843	57970843	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaggggaaaaagtacaCgcctacagtggttccgtaga	13	6	15	7	2	0	1	0	0	0	1	1	4	1	4	2	5	2	3	2	5	5	4			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr11:57970843C>T	ENST00000302592.6	-	1	810	c.811G>A	c.(811-813)Gtg>Atg	p.V271M		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				AAAAAGTACACGCCTACAGTG	0.498													T	57970843	C	T	57970843	3	4	575	1	0	0	0	0	1	0	0	0	11049	536	19	1	169	1	OR1S2	11	57970843	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	55816601	57970843	77035673	17	48702											
B4GALNT3	283358	broad.mit.edu	37	chr12	657235	657235	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcgaggtgctgcacaagcaGaatgaggagggcaccgacca	12	5	14	10	2	0	2	0	1	0	1	1	5	0	3	2	3	3	4	2	3	2	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:657235G>C	ENST00000266383.5	+	8	766	c.753G>C	c.(751-753)caG>caC	p.Q251H	B4GALNT3_ENST00000544638.1_3'UTR	NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	251						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			TGCACAAGCAGAATGAGGAGG	0.622													C	657235	G	C	657235	3	2	575	1	0	0	0	0	1	0	0	0	1273	933	33	4	783	4	B4GALNT3	12	657235	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		657235	133194660	18	48703											
B4GALNT3	283358	broad.mit.edu	37	chr12	665815	665815	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttggaacaaggccagcgCgtggtgcggctctcggagta	7	8	16	10	4	1	0	0	0	1	0	2	2	1	2	1	5	3	3	1	5	3	2	rs150429681	byFrequency	TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr12:665815C>T	ENST00000266383.5	+	15	2176	c.2163C>T	c.(2161-2163)cgC>cgT	p.R721R		NM_173593.3	NP_775864.3	Q6L9W6	B4GN3_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 3	721						Golgi cisterna membrane|integral to membrane	N-acetyl-beta-glucosaminyl-glycoprotein 4-beta-N-acetylgalactosaminyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0158)|all_epithelial(11;0.0274)|Ovarian(42;0.0512)|all_lung(10;0.154)|Lung NSC(10;0.215)		OV - Ovarian serous cystadenocarcinoma(31;0.00018)|BRCA - Breast invasive adenocarcinoma(9;0.0262)			AAGGCCAGCGCGTGGTGCGGC	0.622													T	665815	C	T	665815	2	4	575	1	0	0	0	0	0	0	0	1	1273	755	27	1		1	B4GALNT3	12	665815	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	8580	665815	133186080	19	48704											
RNF17	56163	broad.mit.edu	37	chr13	25399896	25399896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaagatggaatttggtaccGagcaaaagttatcggtagga	14	10	13	4	2	0	2	0	1	0	1	1	5	0	4	1	4	2	4	1	4	7	4			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr13:25399896G>A	ENST00000255324.5	+	16	2283	c.2231G>A	c.(2230-2232)cGa>cAa	p.R744Q	RNF17_ENST00000381921.1_Missense_Mutation_p.R744Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	744	Tudor 1.				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTTGGTACCGAGCAAAAGTT	0.378													A	25399896	G	A	25399896	3	1	575	1	0	0	0	0	1	0	0	0	13552	1058	37	1	2293	1	RNF17	13	25399896	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		25399896	89769982	20	48705											
BEGAIN	57596	broad.mit.edu	37	chr14	101005290	101005290	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcctcctcctcctcggcCgcgctgtcagtggagttctg	2	11	11	17	3	2	0	1	0	1	0	7	1	6	1	6	2	0	2	6	2	0	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr14:101005290C>T	ENST00000556751.1	-	5	4010	c.606G>A	c.(604-606)gcG>gcA	p.A202A	BEGAIN_ENST00000443071.2_Silent_p.A266A|BEGAIN_ENST00000355173.2_Silent_p.A266A|CTD-2062F14.3_ENST00000553301.1_lincRNA			Q9BUH8	BEGIN_HUMAN	brain-enriched guanylate kinase-associated	266						cytoplasm|membrane	protein binding			cervix(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|skin(2)|stomach(1)	14		Melanoma(154;0.212)				CCTCCTCGGCCGCGCTGTCAG	0.726													T	101005290	C	T	101005290	2	4	575	1	0	0	0	0	0	0	0	1	1402	639	23	1		1	BEGAIN	14	101005290	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08		101005290	6344250	21	48706											
POLR3K	51728	broad.mit.edu	37	chr16	97470	97470	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacactgagcattgcagcacTtgtagaaggtggtcatcggc	10	9	12	10	1	1	2	1	1	0	1	2	2	1	2	0	3	3	4	0	3	2	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:97470T>C	ENST00000293860.5	-	3	328	c.287A>G	c.(286-288)aAg>aGg	p.K96R		NM_016310.3	NP_057394.2	Q9Y2Y1	RPC10_HUMAN	polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa	96					innate immune response|response to virus|transcription from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|zinc ion binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				ATTGCAGCACTTGTAGAAGGT	0.557													C	97470	T	C	97470	3	2	575	1	0	0	0	0	1	0	0	0	12314	1609	56	3	43	3	POLR3K	16	97470	Missense_Mutation	SNP	T	TCGA-HT-8012-01A-11D-2395-08		97470	90257283	22	48707											
WWOX	51741	broad.mit.edu	37	chr16	78458905	78458905	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcctccaggatgttttgtgCcgctcagctcctgcccgtgt	3	13	10	15	2	1	0	1	0	0	0	4	1	4	1	5	1	3	3	5	1	0	2			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr16:78458905C>T	ENST00000566780.1	+	7	1110	c.744C>T	c.(742-744)tgC>tgT	p.C248C	WWOX_ENST00000408984.3_Silent_p.C248C|WWOX_ENST00000406884.2_Intron|WWOX_ENST00000539474.2_Intron|WWOX_ENST00000402655.2_Intron	NM_016373.2	NP_057457.1	Q9NZC7	WWOX_HUMAN	WW domain containing oxidoreductase	248	Interaction with MAPT (By similarity).|Mediates targeting to the mitochondria (By similarity).				apoptosis|negative regulation of Wnt receptor signaling pathway|steroid metabolic process|Wnt receptor signaling pathway	Golgi apparatus|mitochondrion|nucleus	coenzyme binding|oxidoreductase activity|protein dimerization activity	p.C248C(1)|p.A91V(1)		large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	7		all_cancers(2;1.97e-181)|all_epithelial(2;3.85e-160)|all_lung(2;2.03e-39)|Lung NSC(2;7.16e-35)|Colorectal(2;6.96e-21)|all_hematologic(2;1.13e-16)|Melanoma(2;5.16e-06)|all_neural(2;8.84e-06)|Renal(2;5.26e-05)|Medulloblastoma(2;0.00498)|Breast(2;0.00631)|Lung SC(2;0.0261)|Prostate(104;0.167)		UCEC - Uterine corpus endometrioid carcinoma (2;0.012)|Epithelial(1;2.65e-39)|all cancers(1;3.26e-34)|STAD - Stomach adenocarcinoma(1;5.1e-20)|COAD - Colon adenocarcinoma(1;1.04e-11)|Colorectal(1;3.4e-11)|OV - Ovarian serous cystadenocarcinoma(1;1.01e-10)|BRCA - Breast invasive adenocarcinoma(1;0.00196)|Kidney(780;0.232)		ATGTTTTGTGCCGCTCAGCTC	0.507													T	78458905	C	T	78458905	2	4	575	1	0	0	0	0	0	0	0	1	17516	747	26	2		2	WWOX	16	78458905	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	78361435	78458905	11895848	23	48708											
GEMIN4	50628	broad.mit.edu	37	chr17	650531	650531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggtcgtcctctgtcagcGcaaacacagtcagcatgtca	9	8	12	12	2	4	0	3	0	1	0	6	0	5	0	1	2	3	2	1	2	1	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:650531G>A	ENST00000576778.1	-	1	2060	c.719C>T	c.(718-720)gCg>gTg	p.A240V	GEMIN4_ENST00000319004.5_Missense_Mutation_p.A251V|GEMIN4_ENST00000437269.1_Intron			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	251					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		CTCTGTCAGCGCAAACACAGT	0.607													A	650531	G	A	650531	3	1	575	1	0	0	0	0	1	0	0	0	6386	1087	38	1	2428	1	GEMIN4	17	650531	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08		650531	80544679	24	48709											
FASN	2194	broad.mit.edu	37	chr17	80051592	80051592	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctccgaggtctcagagccGctcacgcccacccagacgcc	7	4	10	20	4	2	2	2	0	1	2	4	3	3	2	6	1	1	1	6	1	0	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr17:80051592G>A	ENST00000306749.2	-	4	554	c.336C>T	c.(334-336)agC>agT	p.S112S		NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	112	Beta-ketoacyl synthase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	TCTCAGAGCCGCTCACGCCCA	0.657													A	80051592	G	A	80051592	2	1	575	1	0	0	0	0	0	0	0	1	5732	1078	38	1		1	FASN	17	80051592	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08	79401061	80051592	1143618	25	48710											
CIC	23152	broad.mit.edu	37	chr19	42791207	42791208	+	Frame_Shift_Del	DEL	AG	AG	-																															gaacggccaccaggtgggacAgggagtgctgaccctgagcg																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42791207_42791208delAG	ENST00000572681.2	+	4	3062_3063	c.2994_2995delAG	c.(2992-2997)acagggfs	p.G999fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.G90fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.G90fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	90	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGGTGGGACAGGGAGTGCTGA	0.649			"Mis, F, S"		oligodendroglioma								-	42791208	AG	-	42791207	7	5	575	1	0	1	0	1	0	0	0	0	3454	175	7	0	277	0	CIC	19	42791207	Frame_Shift_Del	DEL	AG	TCGA-HT-8012-01A-11D-2395-08		42791207	16337776	26	48711			1	73		3	3	5348	N	TG_CAGT_AG	1.92488e-05
CIC	23152	broad.mit.edu	37	chr19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															ctggacggcggagaagtagaCagtcaggcgctacaggaact																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42793215_42793218delCAGT	ENST00000572681.2	+	8	3902_3905	c.3834_3837delCAGT	c.(3832-3837)gacagtfs	p.DS1278fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								-	42793218	CAGT	-	42793215	7	5	575	1	0	1	0	1	0	0	0	0	3454	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-HT-8012-01A-11D-2395-08	2008	42793215	16335768	27	48712			1	73		3	3	5348	N	TG_CAGT_AG	1.92488e-05
CIC	23152	broad.mit.edu	37	chr19	42796554	42796555	+	Frame_Shift_Del	DEL	TG	TG	-																															tcgtacgggcccacgagctcTgtagctctaggcttcacctc																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr19:42796554_42796555delTG	ENST00000572681.2	+	14	5906_5907	c.5838_5839delTG	c.(5836-5841)tctgtafs	p.V1947fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1038fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1038fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1038					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACGAGCTCTGTAGCTCTAGG	0.703			"Mis, F, S"		oligodendroglioma								-	42796555	TG	-	42796554	7	5	575	1	0	1	0	1	0	0	0	0	3454	1567	55	0	3161	0	CIC	19	42796554	Frame_Shift_Del	DEL	TG	TCGA-HT-8012-01A-11D-2395-08	3339	42796554	16332429	28	48713			1	73		3	3	5348	N	TG_CAGT_AG	1.92488e-05
MYH7B	57644	broad.mit.edu	37	chr20	33583356	33583358	+	In_Frame_Del	DEL	AGG	AGG	-																															gacactggccaaagctgagaAggagaagcaagccactgaga																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:33583356_33583358delAGG	ENST00000262873.7	+	26	3136_3138	c.3044_3046delAGG	c.(3043-3048)aaggag>aag	p.E1016del		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	974						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AAAGCTGAGAAGGAGAAGCAAGC	0.645													-	33583358	AGG	-	33583356	7	5	575	1	0	1	0	1	0	0	0	0	10116	72	3	0	3146	0	MYH7B	20	33583356	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08		33583356	29442164	29	48714											
EYA2	2139	broad.mit.edu	37	chr20	45644820	45644820	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccccctcttccttcaaagGcatcaagacagaagacagct	12	9	6	14	0	3	3	2	0	1	3	5	3	5	3	3	1	1	2	3	1	3	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr20:45644820G>A	ENST00000327619.5	+	5	673	c.299G>A	c.(298-300)aGc>aAc	p.S100N	EYA2_ENST00000317304.6_Splice_Site_p.S100N|EYA2_ENST00000357410.3_Splice_Site_p.S100N	NM_005244.4	NP_005235.3	O00167	EYA2_HUMAN	eyes absent homolog 2 (Drosophila)	100					DNA repair|histone dephosphorylation|mesodermal cell fate specification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	magnesium ion binding|protein binding|protein tyrosine phosphatase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0241)				TCCTTCAAAGGCATCAAGACA	0.507													A	45644820	G	A	45644820	5	1	575	1	0	0	0	0	0	0	1	0	5371	1217	42	2	313	2	EYA2	20	45644820	Splice_Site	SNP	G	TCGA-HT-8012-01A-11D-2395-08	12061464	45644820	17380700	30	48715											
BAGE2	85319	broad.mit.edu	37	chr21	11058183	11058183	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaggagcttggtcaatGtgttctggacaaagcaggaa	11	11	12	7	0	3	0	2	0	1	0	3	3	3	3	0	4	2	3	0	4	3	3			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chr21:11058183G>A	ENST00000470054.1	-	0	464									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTTGGTCAATGTGTTCTGGAC	0.398													A	11058183	G	A	11058183	1	1	575	0	1	0	0	0	0	0	0	0	1297	1377	48	2		2	BAGE2	21	11058183	RNA	SNP	G	TCGA-HT-8012-01A-11D-2395-08		11058183	37071712	31	48716											
ARR3	407	broad.mit.edu	37	chrX	69500075	69500075	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggacaaagagctgctGgggatcctggtgtcctacaa	11	8	14	8	0	0	1	0	0	0	1	2	4	2	4	2	5	3	2	2	5	4	1			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:69500075G>T	ENST00000374495.3	+	13	1034	c.936G>T	c.(934-936)ctG>ctT	p.L312L	ARR3_ENST00000307959.8_Silent_p.L312L			P36575	ARRC_HUMAN	arrestin 3, retinal (X-arrestin)	312					signal transduction|visual perception	cytoplasm|soluble fraction				endometrium(3)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	16						AAGAGCTGCTGGGGATCCTGG	0.502													T	69500075	G	T	69500075	2	4	575	1	0	0	0	0	0	0	0	1	984	1335	47	4		4	ARR3	23	69500075	Silent	SNP	G	TCGA-HT-8012-01A-11D-2395-08		69500075	85770485	32	48717											
TAF1	6872	broad.mit.edu	37	chrX	70679529	70679529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaggaagatgctgggaGtgatgaagaaggagacaatc	15	7	16	3	0	0	7	0	4	0	3	1	10	0	9	0	3	1	1	0	3	4	0			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:70679529G>T	ENST00000449580.1	+	37	5342	c.5291G>T	c.(5290-5292)aGt>aTt	p.S1764I	TAF1_ENST00000461764.1_3'UTR|TAF1_ENST00000276072.3_Missense_Mutation_p.S1751I|TAF1_ENST00000423759.1_Missense_Mutation_p.S1753I|TAF1_ENST00000373790.4_Missense_Mutation_p.S1730I			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1730	Asp/Glu-rich (acidic tail).|Protein kinase 2.				G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GATGCTGGGAGTGATGAAGAA	0.468													T	70679529	G	T	70679529	3	4	575	1	0	0	0	0	1	0	0	0	15610	1029	36	4	5394	4	TAF1	23	70679529	Missense_Mutation	SNP	G	TCGA-HT-8012-01A-11D-2395-08	1179454	70679529	84591031	33	48718											
DOCK11	139818	broad.mit.edu	37	chrX	117752578	117752578	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttggttggtctacttCtgagggaaacttccattgct	7	16	9	9	0	3	1	0	1	3	0	4	2	4	2	1	3	3	2	1	3	2	7			TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:117752578C>A	ENST00000276204.6	+	31	3432	c.3358C>A	c.(3358-3360)Ctg>Atg	p.L1120M	DOCK11_ENST00000276202.7_Missense_Mutation_p.L1120M			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1120					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGGTCTACTTCTGAGGGAAAC	0.333													A	117752578	C	A	117752578	3	1	575	1	0	0	0	0	1	0	0	0	4725	912	32	4	3480	4	DOCK11	23	117752578	Missense_Mutation	SNP	C	TCGA-HT-8012-01A-11D-2395-08	47073049	117752578	37517982	34	48719											
MAGEA10	4109	broad.mit.edu	37	chrX	151303906	151303908	+	In_Frame_Del	DEL	AGG	AGG	-																															gcttggtattagaggatagcAggaggaggaggaggaagagg																										TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:151303906_151303908delAGG	ENST00000370323.4	-	4	501_503	c.185_187delCCT	c.(184-189)tcctgc>tgc	p.S62del	MAGEA10_ENST00000244096.3_In_Frame_Del_p.S62del|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	62	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AGAGGATAGCaggaggaggagga	0.562													-	151303908	AGG	-	151303906	7	5	575	1	0	1	0	1	0	0	0	0	9235	188	7	0	926	0	MAGEA10	23	151303906	In_Frame_Del	DEL	AGG	TCGA-HT-8012-01A-11D-2395-08	33551328	151303906	3966654	35	48720											
CTAG2	30848	broad.mit.edu	37	chrX	153881577	153881577	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggggcaccttccatcctgCgcagaagcggcaccgccatg	8	5	12	16	3	0	1	0	0	0	1	2	1	2	1	5	3	2	3	5	3	1	1	rs140132753		TCGA-HT-8012-01A-11D-2395-08	TCGA-HT-8012-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1731d809-8fde-4539-82ab-4cdf461abb88	c2b420d7-bb63-411d-979d-d5b9bd30ebc3	g.chrX:153881577C>T	ENST00000247306.4	-	1	276	c.213G>A	c.(211-213)gcG>gcA	p.A71A	CTAG2_ENST00000369585.3_Silent_p.A71A	NM_020994.3	NP_066274.2	O75638	CTAG2_HUMAN	cancer/testis antigen 2	71	Gly-rich.					centrosome				central_nervous_system(1)|endometrium(1)|lung(6)|ovary(1)|pancreas(1)	10	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCATCCTGCGCAGAAGCGG	0.711													T	153881577	C	T	153881577	2	4	575	1	0	0	0	0	0	0	0	1	4024	755	27	1		1	CTAG2	23	153881577	Silent	SNP	C	TCGA-HT-8012-01A-11D-2395-08	2577671	153881577	1388983	36	48721											
KANK4	163782	broad.mit.edu	37	chr1	62728946	62728946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacttccggctggagacgCggaaccactcttgactgatg	9	8	12	12	4	1	3	0	2	1	1	2	6	2	4	2	3	1	1	2	3	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:62728946C>T	ENST00000371153.4	-	7	2735	c.2357G>A	c.(2356-2358)cGc>cAc	p.R786H	KANK4_ENST00000317477.4_5'UTR|KANK4_ENST00000354381.3_Missense_Mutation_p.R158H|KANK4_ENST00000371150.1_Missense_Mutation_p.R142H	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	786				R -> H (in Ref. 1; BAC03774).						NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						GCTGGAGACGCGGAACCACTC	0.562													T	62728946	C	T	62728946	3	4	576	1	0	0	0	0	1	0	0	0	8037	768	27	1	646	1	KANK4	1	62728946	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		62728946	186521675	1	48722											
RYR2	6262	broad.mit.edu	37	chr1	237730050	237730050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcttggctcagatgaacGtgcctttgcctttgatggct	6	13	13	9	1	1	3	1	2	0	1	1	4	1	4	2	3	4	3	2	3	1	3			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr1:237730050G>A	ENST00000366574.2	+	28	3715	c.3398G>A	c.(3397-3399)cGt>cAt	p.R1133H	RYR2_ENST00000542537.1_Missense_Mutation_p.R1117H|RYR2_ENST00000360064.6_Missense_Mutation_p.R1131H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1133	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TCAGATGAACGTGCCTTTGCC	0.527													A	237730050	G	A	237730050	3	1	576	1	0	0	0	0	1	0	0	0	13860	1145	40	1	3508	1	RYR2	1	237730050	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	175001104	237730050	11520571	2	48723											
RGPD3	653489	broad.mit.edu	37	chr2	107041183	107041183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atttttaagttccccaagccCctttctttccactgacttac	8	16	3	14	0	1	1	0	1	1	0	3	1	3	1	5	0	2	1	5	0	3	7			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:107041183C>T	ENST00000409886.3	-	20	3327	c.3240G>A	c.(3238-3240)agG>agA	p.R1080R	RGPD3_ENST00000304514.7_Silent_p.R1080R	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1080	RanBD1 1.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						TCCCCAAGCCCCTTTCTTTCC	0.378													T	107041183	C	T	107041183	2	4	576	1	0	0	0	0	0	0	0	1	13375	622	22	2		2	RGPD3	2	107041183	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08		107041183	136158190	3	48724											
TTN	7273	broad.mit.edu	37	chr2	179443923	179443923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcatcagatttttggcaatCgtacactataagagttgtgt	12	14	9	6	1	1	2	1	0	0	2	2	2	1	2	0	1	2	4	0	1	4	6			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:179443923C>T	ENST00000589042.1	-	320	68058	c.67834G>A	c.(67834-67836)Gat>Aat	p.D22612N	TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D13739N|TTN_ENST00000591111.1_Missense_Mutation_p.D20971N|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D13672N|RP11-171I2.2_ENST00000603521.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D13547N|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D20044N|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20971	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTGGCAATCGTACACTATA	0.443													T	179443923	C	T	179443923	3	4	576	1	0	0	0	0	1	0	0	0	16837	884	31	1	40317	1	TTN	2	179443923	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	72402740	179443923	63755450	4	48725											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	576	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	29669189	209113112	34086261	5	48726											
ZCWPW2	152098	broad.mit.edu	37	chr3	28566121	28566121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattaaaagctggagaatGtattgaggatataactaata	20	11	8	2	0	0	2	0	1	0	1	0	4	0	3	0	2	2	2	0	2	10	7			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:28566121G>A	ENST00000383768.2	+	10	1201	c.1013G>A	c.(1012-1014)tGt>tAt	p.C338Y	ZCWPW2_ENST00000421010.1_Missense_Mutation_p.C338Y			Q504Y3	ZCPW2_HUMAN	zinc finger, CW type with PWWP domain 2	338							zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(6)|ovary(2)	17						GCTGGAGAATGTATTGAGGAT	0.303													A	28566121	G	A	28566121	3	1	576	1	0	0	0	0	1	0	0	0	17699	1377	48	2	1043	2	ZCWPW2	3	28566121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		28566121	169456309	6	48727											
TKT	7086	broad.mit.edu	37	chr3	53276168	53276168	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcacaaagcggtcattgtgCggattccgggggtcctggga	8	8	16	9	3	1	0	1	0	0	0	3	2	3	2	2	5	3	1	2	5	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:53276168C>T	ENST00000462138.1	-	2	286	c.198G>A	c.(196-198)ccG>ccA	p.P66P	TKT_ENST00000296289.6_Silent_p.P19P|TKT_ENST00000423525.2_Silent_p.P66P|TKT_ENST00000423516.1_Silent_p.P66P			P29401	TKT_HUMAN	transketolase	66					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	GGTCATTGTGCGGATTCCGGG	0.617													T	53276168	C	T	53276168	2	4	576	1	0	0	0	0	0	0	0	1	16034	755	27	1		1	TKT	3	53276168	Silent	SNP	C	TCGA-HT-8013-01A-11D-2395-08	24710047	53276168	144746262	7	48728											
POLQ	10721	broad.mit.edu	37	chr3	121158888	121158888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgattcctggcaaatatctaCgccttcccaaaatggtctga	11	12	7	11	1	2	2	0	2	2	0	4	2	4	2	3	2	1	1	3	2	5	4			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:121158888C>T	ENST00000264233.5	-	27	7468	c.7340G>A	c.(7339-7341)cGt>cAt	p.R2447H		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2447					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		CAAATATCTACGCCTTCCCAA	0.328								DNA polymerases (catalytic subunits)					T	121158888	C	T	121158888	3	4	576	1	0	0	0	0	1	0	0	0	12285	536	19	1	448	1	POLQ	3	121158888	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	67882720	121158888	76863542	8	48729											
ESYT3	83850	broad.mit.edu	37	chr3	138192428	138192428	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagattcagctcacagtgcGctatgtgtgtctgcggcgct	6	12	13	10	3	3	1	2	1	1	1	3	2	3	1	0	1	3	3	0	1	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr3:138192428G>A	ENST00000389567.4	+	19	2474	c.2288G>A	c.(2287-2289)cGc>cAc	p.R763H	ESYT3_ENST00000460133.1_3'UTR	NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	763	C2 3.					integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						CTCACAGTGCGCTATGTGTGT	0.562													A	138192428	G	A	138192428	3	1	576	1	0	0	0	0	1	0	0	0	5307	1087	38	1	2362	1	ESYT3	3	138192428	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	17033540	138192428	59830002	9	48730											
GLP1R	2740	broad.mit.edu	37	chr6	39046913	39046913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctcatctttgttcgggTcatctgcatcgtggtatcca	5	16	8	12	2	4	0	2	0	2	0	8	0	6	0	2	2	1	3	2	2	1	4			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr6:39046913T>C	ENST00000373256.4	+	10	1023	c.980T>C	c.(979-981)gTc>gCc	p.V327A		NM_002062.3	NP_002053.3	P43220	GLP1R_HUMAN	glucagon-like peptide 1 receptor	327					activation of adenylate cyclase activity|cAMP-mediated signaling|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	glucagon receptor activity|peptide receptor activity, G-protein coupled			breast(5)|endometrium(3)|kidney(1)|large_intestine(8)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	31					Exenatide(DB01276)|Glucagon recombinant(DB00040)	TTTGTTCGGGTCATCTGCATC	0.557													C	39046913	T	C	39046913	3	2	576	1	0	0	0	0	1	0	0	0	6508	1667	58	3	1018	3	GLP1R	6	39046913	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08		39046913	132068154	10	48731											
FAM71F2	346653	broad.mit.edu	37	chr7	128315777	128315777	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgaagggtctgccaccGtgatcctcggggtcacctcc	5	10	12	14	2	3	2	1	2	2	0	6	2	5	2	5	3	1	0	5	3	1	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:128315777G>A	ENST00000480462.1	+	2	335	c.229G>A	c.(229-231)Gtg>Atg	p.V77M	FAM71F2_ENST00000477515.1_Missense_Mutation_p.V77M|FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000378704.3_Missense_Mutation_p.V68M			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	77										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						GTCTGCCACCGTGATCCTCGG	0.582													A	128315777	G	A	128315777	3	1	576	1	0	0	0	0	1	0	0	0	5663	1145	40	1	235	1	FAM71F2	7	128315777	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		128315777	30822886	11	48732											
CNTNAP2	26047	broad.mit.edu	37	chr7	146829342	146829342	+	Frame_Shift_Del	DEL	T	T	-																															ctttctattttacagggaaaTttgagcttttcttgtgtgga																										TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr7:146829342delT	ENST00000361727.3	+	8	1605	c.1089delT	c.(1087-1089)aatfs	p.N363fs		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	363	Laminin G-like 1.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			TACAGGGAAATTTGAGCTTTT	0.428										HNSCC(39;0.1)			-	146829342	T	-	146829342	7	5	576	1	0	1	0	1	0	0	0	0	3678	1490	52	0	1119	0	CNTNAP2	7	146829342	Frame_Shift_Del	DEL	T	TCGA-HT-8013-01A-11D-2395-08	18513565	146829342	12309321	12	48733											
RBM12B	389677	broad.mit.edu	37	chr8	94745679	94745679	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggggcccaactggcctatcaTttagatctttaatagcagcc	10	11	9	11	0	2	1	1	0	1	1	2	1	2	1	3	3	3	1	3	3	5	6			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr8:94745679T>C	ENST00000399300.2	-	3	3173	c.2960A>G	c.(2959-2961)aAt>aGt	p.N987S	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.N867S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	987	RRM 4.						nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGGCCTATCATTTAGATCTTT	0.378													C	94745679	T	C	94745679	3	2	576	1	0	0	0	0	1	0	0	0	13202	1493	52	3	49	3	RBM12B	8	94745679	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08		94745679	51618343	13	48734											
ZNF438	220929	broad.mit.edu	37	chr10	31134429	31134429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagtaatctgacaacgacCacatttgatttgtaatttga	14	13	7	7	1	1	3	0	3	1	0	1	4	1	3	1	0	2	3	1	0	3	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:31134429C>G	ENST00000452305.1	-	9	2481	c.1918G>C	c.(1918-1920)Ggt>Cgt	p.G640R	ZNF438_ENST00000442986.1_Missense_Mutation_p.G650R|ZNF438_ENST00000444692.2_Missense_Mutation_p.G640R|ZNF438_ENST00000361310.3_Missense_Mutation_p.G650R|ZNF438_ENST00000436087.2_Missense_Mutation_p.G650R|ZNF438_ENST00000375311.1_Missense_Mutation_p.G214R|ZNF438_ENST00000538351.2_Missense_Mutation_p.G601R|ZNF438_ENST00000413025.1_Missense_Mutation_p.G650R|ZNF438_ENST00000331737.6_Missense_Mutation_p.G640R	NM_001143770.1	NP_001137242.1	Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	650					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				TGACAACGACCACATTTGATT	0.393													G	31134429	C	G	31134429	3	3	576	1	0	0	0	0	1	0	0	0	18011	594	21	4	542	4	ZNF438	10	31134429	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		31134429	104400318	14	48735											
STK32C	282974	broad.mit.edu	37	chr10	134021578	134021578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggagcgttccgcctcgTcctccacaggctccgcagca	5	6	13	17	5	0	0	0	0	0	0	5	1	4	1	5	3	2	4	5	3	0	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr10:134021578T>C	ENST00000368622.1	-	12	1427	c.1046A>G	c.(1045-1047)gAc>gGc	p.D349G	STK32C_ENST00000368625.4_Missense_Mutation_p.D479G			Q86UX6	ST32C_HUMAN	serine/threonine kinase 32C	466	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		TTCCGCCTCGTCCTCCACAGG	0.706													C	134021578	T	C	134021578	3	2	576	1	0	0	0	0	1	0	0	0	15395	1667	58	3	67	3	STK32C	10	134021578	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	102887149	134021578	1513169	15	48736											
ZNF215	7762	broad.mit.edu	37	chr11	6977476	6977476	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaccgacgtacaaaccttaCtaagcatcaaaaacttcatg	17	8	4	12	2	2	0	2	0	0	0	2	1	2	0	2	0	6	2	2	0	7	4			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:6977476C>T	ENST00000278319.5	+	7	1856	c.1268C>T	c.(1267-1269)aCt>aTt	p.T423I	ZNF215_ENST00000529903.1_Intron|ZNF215_ENST00000414517.2_Missense_Mutation_p.T423I	NM_013250.2	NP_037382.2	Q9UL58	ZN215_HUMAN	zinc finger protein 215	423					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(4)	32				Epithelial(150;6.33e-08)|BRCA - Breast invasive adenocarcinoma(625;0.134)		ACAAACCTTACTAAGCATCAA	0.408													T	6977476	C	T	6977476	3	4	576	1	0	0	0	0	1	0	0	0	17872	565	20	2	1286	2	ZNF215	11	6977476	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		6977476	128029040	16	48737											
PCNXL3	399909	broad.mit.edu	37	chr11	65397113	65397113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccctggtgactgcttcGtcctggcctctgactacctc	4	12	10	15	1	1	2	0	2	1	0	4	2	2	2	4	3	2	1	4	3	1	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:65397113G>T	ENST00000355703.3	+	26	4662	c.4123G>T	c.(4123-4125)Gtc>Ttc	p.V1375F		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1375						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGACTGCTTCGTCCTGGCCTC	0.617													T	65397113	G	T	65397113	3	4	576	1	0	0	0	0	1	0	0	0	11669	1145	40	4	4225	4	PCNXL3	11	65397113	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	58419637	65397113	69609403	17	48738											
HTR3A	3359	broad.mit.edu	37	chr11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaacatctctttgtggCgcttgccagaaaaggtgaaa	13	10	9	9	1	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	4	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000535865.1_Intron			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCTTTGTGGCGCTTGCCAGA	0.527													T	113856763	C	T	113856763	3	4	576	1	0	0	0	0	1	0	0	0	7502	768	27	1	637	1	HTR3A	11	113856763	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	48459650	113856763	21149753	18	48739											
MON2	23041	broad.mit.edu	37	chr12	62986483	62986483	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactagttccttttaaggAtttcatgcagccaccagcat	10	12	8	11	0	1	0	1	0	0	0	2	1	2	1	3	2	3	4	3	2	2	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr12:62986483A>G	ENST00000393630.3	+	36	5502	c.5111A>G	c.(5110-5112)gAt>gGt	p.D1704G	MON2_ENST00000551397.1_Missense_Mutation_p.D77G|MON2_ENST00000393632.2_Missense_Mutation_p.D1703G|MON2_ENST00000546600.1_3'UTR|MON2_ENST00000552738.1_Missense_Mutation_p.D1674G|MON2_ENST00000393629.2_Missense_Mutation_p.D1697G	NM_001278470.1|NM_001278472.1	NP_001265399.1|NP_001265401.1	Q7Z3U7	MON2_HUMAN	MON2 homolog (S. cerevisiae)	1704					Golgi to endosome transport|protein transport	cytoplasm	ARF guanyl-nucleotide exchange factor activity|binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(15)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	57			BRCA - Breast invasive adenocarcinoma(9;0.218)	GBM - Glioblastoma multiforme(28;0.128)		CCTTTTAAGGATTTCATGCAG	0.393													G	62986483	A	G	62986483	3	3	576	1	0	0	0	0	1	0	0	0	9776	333	12	3	5246	3	MON2	12	62986483	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08		62986483	70865412	19	48740											
SETD3	84193	broad.mit.edu	37	chr14	99865219	99865219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atcctgcactccagcctcctCctcgaggtttctcaagacca	8	10	6	17	1	1	1	1	0	1	1	7	2	5	1	6	1	2	2	6	1	1	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr14:99865219C>T	ENST00000331768.5	-	13	1741	c.1582G>A	c.(1582-1584)Gag>Aag	p.E528K		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	528					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				CCAGCCTCCTCCTCGAGGTTT	0.532													T	99865219	C	T	99865219	3	4	576	1	0	0	0	0	1	0	0	0	14225	864	30	2	206	2	SETD3	14	99865219	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		99865219	7484321	20	48741											
ERN2	10595	broad.mit.edu	37	chr16	23703565	23703565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtgaggatgtttgcctggcGataaagactgtctccaaagg	10	11	13	7	1	1	2	0	1	1	1	2	4	1	3	2	3	1	1	2	3	3	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr16:23703565G>A	ENST00000256797.4	-	18	2500	c.2332C>T	c.(2332-2334)Cgc>Tgc	p.R778C	ERN2_ENST00000457008.2_Missense_Mutation_p.R678C	NM_033266.3	NP_150296.3	Q76MJ5	ERN2_HUMAN	endoplasmic reticulum to nucleus signaling 2	730	Protein kinase.				apoptosis|induction of apoptosis|mRNA processing|negative regulation of transcription, DNA-dependent|rRNA catabolic process|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(2)|lung(2)|ovary(2)	6				GBM - Glioblastoma multiforme(48;0.0156)		TTTGCCTGGCGATAAAGACTG	0.612													A	23703565	G	A	23703565	3	1	576	1	0	0	0	0	1	0	0	0	5279	1058	37	1	612	1	ERN2	16	23703565	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		23703565	66651188	21	48742											
OR1A2	26189	broad.mit.edu	37	chr17	3100860	3100860	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggattttattctcctgggAgttactagtcagcaagaaca	11	13	9	8	0	2	1	1	0	1	1	3	3	2	3	1	2	3	2	1	2	5	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:3100860A>G	ENST00000381951.1	+	1	48	c.48A>G	c.(46-48)ggA>ggG	p.G16G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	16					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TTCTCCTGGGAGTTACTAGTC	0.398													G	3100860	A	G	3100860	2	3	576	1	0	0	0	0	0	0	0	1	11026	291	11	3		3	OR1A2	17	3100860	Silent	SNP	A	TCGA-HT-8013-01A-11D-2395-08		3100860	78094350	22	48743											
KIAA0753	9851	broad.mit.edu	37	chr17	6526324	6526324	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cttacaccgagcaggaagtgGatgctcccctcggtcagtaa	10	8	11	12	2	1	0	1	0	0	0	3	3	2	2	3	3	3	3	3	3	3	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:6526324G>C	ENST00000361413.3	-	6	1340	c.982C>G	c.(982-984)Cca>Gca	p.P328A	KIAA0753_ENST00000572370.1_Missense_Mutation_p.P29A|KIAA0753_ENST00000542606.1_Missense_Mutation_p.P29A	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	328						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		GCAGGAAGTGGATGCTCCCCT	0.522													C	6526324	G	C	6526324	3	2	576	1	0	0	0	0	1	0	0	0	8249	1174	41	4	1977	4	KIAA0753	17	6526324	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	3425464	6526324	74668886	23	48744											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	576	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08	1050797	7577121	73618089	24	48745											
TP53	7157	broad.mit.edu	37	chr17	7577545	7577545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggatgggcctccggttcaTgccgcccatgcaggaactgt	7	8	14	12	2	1	0	1	0	0	0	2	3	2	2	4	4	3	2	4	4	1	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr17:7577545T>C	ENST00000420246.2	-	7	868	c.736A>G	c.(736-738)Atg>Gtg	p.M246V	TP53_ENST00000413465.2_Missense_Mutation_p.M246V|TP53_ENST00000455263.2_Missense_Mutation_p.M246V|TP53_ENST00000445888.2_Missense_Mutation_p.M246V|TP53_ENST00000359597.4_Missense_Mutation_p.M246V|TP53_ENST00000269305.4_Missense_Mutation_p.M246V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	246	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		M -> I (in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (in LFS; 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.M246V(34)|p.0?(8)|p.?(5)|p.M246L(3)|p.G244_M246>V(3)|p.M246fs*1(2)|p.M153V(2)|p.M246_P250delMNRRP(2)|p.G151_M153>V(1)|p.G244fs*17(1)|p.C242fs*98(1)|p.G245fs*17(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*14(1)|p.G245fs*16(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)		CTCCGGTTCATGCCGCCCATG	0.577		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)			C	7577545	T	C	7577545	3	2	576	1	0	0	0	0	1	0	0	0	16482	1464	51	3	554	3	TP53	17	7577545	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	424	7577545	73617665	25	48746											
ANKRD24	170961	broad.mit.edu	37	chr19	4202046	4202046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaatgccctccacctggccGccaaatacgggcacccacag	11	4	8	18	2	0	0	0	0	0	0	1	0	1	0	6	2	2	1	6	2	3	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:4202046G>A	ENST00000600132.1	+	6	643	c.367G>A	c.(367-369)Gcc>Acc	p.A123T	ANKRD24_ENST00000262970.5_Missense_Mutation_p.A213T|ANKRD24_ENST00000318934.4_Missense_Mutation_p.A123T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	123										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)		CCACCTGGCCGCCAAATACGG	0.522													A	4202046	G	A	4202046	3	1	576	1	0	0	0	0	1	0	0	0	653	1087	38	1	385	1	ANKRD24	19	4202046	Missense_Mutation	SNP	G	TCGA-HT-8013-01A-11D-2395-08		4202046	54926937	26	48747											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	10	5	20	6	2	0	2	0	2	0	0	1	6	0	5	1	8	1	1	1	8	1	0			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597													A	16006353	G	A	16006353	2	1	576	1	0	0	0	0	0	0	0	1	4221	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-HT-8013-01A-11D-2395-08	11804307	16006353	43122630	27	48748											
DBNDD2	55861	broad.mit.edu	37	chr20	44037441	44037441	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccacttcttgatccgcagCccccataggtagtatctcat	8	11	7	15	1	2	1	1	1	2	0	4	1	3	1	4	1	1	3	4	1	3	5			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chr20:44037441C>A	ENST00000372712.2	+	3	721	c.140C>A	c.(139-141)cCc>cAc	p.P47H	DBNDD2_ENST00000372710.3_Splice_Site_p.P149H|SYS1-DBNDD2_ENST00000475242.1_3'UTR|DBNDD2_ENST00000372720.3_Splice_Site_p.P145H|DBNDD2_ENST00000372723.3_Splice_Site_p.P47H|DBNDD2_ENST00000372717.1_Splice_Site_p.P47H|DBNDD2_ENST00000357275.2_Splice_Site_p.P47H|SYS1-DBNDD2_ENST00000452133.1_3'UTR|DBNDD2_ENST00000360981.4_Splice_Site_p.P47H|DBNDD2_ENST00000372722.3_Splice_Site_p.P47H			Q9BQY9	DBND2_HUMAN	dysbindin (dystrobrevin binding protein 1) domain containing 2	145					negative regulation of protein kinase activity	cytoplasm	protein binding			breast(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				TGATCCGCAGCCCCCATAGGT	0.517													A	44037441	C	A	44037441	5	1	576	1	0	0	0	0	0	0	1	0	4288	753	26	4	146	4	DBNDD2	20	44037441	Splice_Site	SNP	C	TCGA-HT-8013-01A-11D-2395-08		44037441	18988079	28	48749											
ATRX	546	broad.mit.edu	37	chrX	76939235	76939235	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaagtgttggcaggttCatattgaggttcttcttttc	7	18	10	6	0	4	2	2	1	2	1	5	2	4	2	0	3	0	4	0	3	2	9			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:76939235C>A	ENST00000373344.5	-	9	1727	c.1513G>T	c.(1513-1515)Gaa>Taa	p.E505*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E467*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	505					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)	TTGGCAGGTTCATATTGAGGT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939235	C	A	76939235	4	1	576	1	0	0	0	0	0	1	0	0	1213	835	29	4	6073	4	ATRX	23	76939235	Nonsense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08		76939235	78331325	29	48750											
PGK1	5230	broad.mit.edu	37	chrX	77380495	77380495	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttgcccggggaaccaaagCtctcatggatgaggtggtga	9	10	14	8	1	1	2	1	2	1	0	2	4	1	4	2	5	3	1	2	5	2	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:77380495C>T	ENST00000373316.4	+	9	1228	c.1061C>T	c.(1060-1062)gCt>gTt	p.A354V	PGK1_ENST00000442431.1_Missense_Mutation_p.A218V|PGK1_ENST00000537456.1_Missense_Mutation_p.A326V|PGK1_ENST00000476531.1_3'UTR	NM_000291.3	NP_000282.1	P00558	PGK1_HUMAN	phosphoglycerate kinase 1	354					gluconeogenesis|glycolysis	cytosol	ATP binding|phosphoglycerate kinase activity			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	24						GGAACCAAAGCTCTCATGGAT	0.493													T	77380495	C	T	77380495	3	4	576	1	0	0	0	0	1	0	0	0	11867	797	28	2	1095	2	PGK1	23	77380495	Missense_Mutation	SNP	C	TCGA-HT-8013-01A-11D-2395-08	441260	77380495	77890065	30	48751											
MAMLD1	10046	broad.mit.edu	37	chrX	149638129	149638129	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagatgtcacccttgcaaTgggcccaggtgctcatccta	9	10	10	12	0	2	2	2	1	0	1	3	2	3	2	3	2	2	2	3	2	3	2			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:149638129T>A	ENST00000370401.2	+	4	594	c.284T>A	c.(283-285)aTg>aAg	p.M95K	MAMLD1_ENST00000432680.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000426613.2_Missense_Mutation_p.M70K|MAMLD1_ENST00000468306.1_3'UTR|MAMLD1_ENST00000262858.5_Missense_Mutation_p.M95K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	95					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					ACCCTTGCAATGGGCCCAGGT	0.517													A	149638129	T	A	149638129	3	1	576	1	0	0	0	0	1	0	0	0	9283	1464	51	5	294	5	MAMLD1	23	149638129	Missense_Mutation	SNP	T	TCGA-HT-8013-01A-11D-2395-08	72257634	149638129	5632431	31	48752											
IL9R	3581	broad.mit.edu	37	chrX	155234153	155234153	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcatcctgacctggagcAtcagtcctgccttggagcca	8	9	10	14	0	1	1	1	1	0	0	3	3	3	3	5	2	4	2	5	2	0	1			TCGA-HT-8013-01A-11D-2395-08	TCGA-HT-8013-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	590efe82-cb5a-4e5e-943c-a8ebb1033776	da88f82c-7da0-4aec-97b0-11132dfb0ebb	g.chrX:155234153A>G	ENST00000424344.3	+	6	806	c.439A>G	c.(439-441)Atc>Gtc	p.I147V	IL9R_ENST00000540897.1_Missense_Mutation_p.I193V|IL9R_ENST00000369423.2_Missense_Mutation_p.I203V|IL9R_ENST00000244174.5_Missense_Mutation_p.I168V			Q01113	IL9R_HUMAN	interleukin 9 receptor	168					cell proliferation	extracellular space|integral to plasma membrane	interleukin-9 receptor activity			NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(12)|upper_aerodigestive_tract(1)	23	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					GACCTGGAGCATCAGTCCTGC	0.547													G	155234153	A	G	155234153	3	3	576	1	0	0	0	0	1	0	0	0	7766	217	8	3	520	3	IL9R	23	155234153	Missense_Mutation	SNP	A	TCGA-HT-8013-01A-11D-2395-08	5596024	155234153	36407	32	48753											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	577	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-8015-01B-11D-A289-08		31939829	139175238	1	48754											
DAGLB	221955	broad.mit.edu	37	chr7	6449551	6449551	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccacgctgtccaaggcccGcatcaggatgtctggcatgt	8	8	12	13	2	2	0	1	0	1	0	3	2	3	1	3	3	0	3	3	3	1	0	rs138713047	by1000genomes	TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:6449551G>A	ENST00000297056.6	-	15	2105	c.1936C>T	c.(1936-1938)Cgg>Tgg	p.R646W	DAGLB_ENST00000436575.1_Missense_Mutation_p.R605W|DAGLB_ENST00000425398.2_Missense_Mutation_p.R517W	NM_139179.3	NP_631918.3	Q8NCG7	DGLB_HUMAN	diacylglycerol lipase, beta	646					lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity	p.R646W(1)		breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|urinary_tract(2)	26		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.102)		TCCAAGGCCCGCATCAGGATG	0.587													A	6449551	G	A	6449551	3	1	577	1	0	0	0	0	1	0	0	0	4261	1086	38	1	86	1	DAGLB	7	6449551	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08		6449551	152689112	2	48755											
SCRN1	9805	broad.mit.edu	37	chr7	29983623	29983623	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcagcccagtacttccCtatggtctcgagcacccagg	7	8	10	16	2	1	0	0	0	1	0	4	1	2	0	3	3	3	3	3	3	2	3			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:29983623C>A	ENST00000426154.1	-	4	690	c.514G>T	c.(514-516)Ggg>Tgg	p.G172W	SCRN1_ENST00000416113.2_Missense_Mutation_p.G63W|SCRN1_ENST00000409497.1_Missense_Mutation_p.G172W|SCRN1_ENST00000434476.2_Missense_Mutation_p.G192W|SCRN1_ENST00000242059.5_Missense_Mutation_p.G172W|SCRN1_ENST00000425819.2_Missense_Mutation_p.G104W	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	172					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						CAGTACTTCCCTATGGTCTCG	0.527													A	29983623	C	A	29983623	3	1	577	1	0	0	0	0	1	0	0	0	14031	681	24	4	750	4	SCRN1	7	29983623	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	23534072	29983623	129155040	3	48756											
BRAF	673	broad.mit.edu	37	chr7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccactccatcgagatttcActgtagctagaccaaaatca	14	9	5	13	1	2	2	2	0	0	2	4	3	3	2	3	0	1	2	3	0	4	3	rs121913377		TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B	600	Protein kinase.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).		activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				T	140453136	A	T	140453136	3	4	577	1	0	0	0	0	1	0	0	0	1505	159	6	5	517	5	BRAF	7	140453136	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08	110469513	140453136	18685527	4	48757											
ARNT2	9915	broad.mit.edu	37	chr15	80845028	80845028	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatgggatgtcggtgccCacagagttcttatcccggca	9	10	12	10	2	1	2	0	1	1	1	3	3	2	3	2	3	1	2	2	3	2	2			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr15:80845028C>A	ENST00000533983.1	+	11	1308	c.969C>A	c.(967-969)ccC>ccA	p.P323P	ARNT2_ENST00000303329.4_Silent_p.P334P|ARNT2_ENST00000527771.1_Silent_p.P323P			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	334	PAS 2.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGTCGGTGCCCACAGAGTTCT	0.498													A	80845028	C	A	80845028	2	1	577	1	0	0	0	0	0	0	0	1	971	581	21	4		4	ARNT2	15	80845028	Silent	SNP	C	TCGA-HT-8015-01B-11D-A289-08		80845028	21686364	5	48758											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983818	2983818	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggagaaggtgtattggAcctgccgggaccaggcccgc	7	6	17	11	2	0	1	0	0	0	1	0	4	0	3	4	6	1	1	4	6	2	2			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:2983818A>C	ENST00000399667.2	+	6	1714	c.1351A>C	c.(1351-1353)Acc>Ccc	p.T451P	FLYWCH1_ENST00000416288.2_Missense_Mutation_p.T450P|FLYWCH1_ENST00000253928.9_Missense_Mutation_p.T451P			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	451						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						GGTGTATTGGACCTGCCGGGA	0.692													C	2983818	A	C	2983818	3	2	577	1	0	0	0	0	1	0	0	0	5996	275	10	5	1362	5	FLYWCH1	16	2983818	Missense_Mutation	SNP	A	TCGA-HT-8015-01B-11D-A289-08		2983818	87370935	6	48759											
DNAH3	55567	broad.mit.edu	37	chr16	21073899	21073899	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agattgtctgtaaactcaagCttggcaattccttcaaagca	13	12	7	9	0	3	1	2	0	1	1	4	1	4	1	1	1	3	4	1	1	5	5			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr16:21073899C>A	ENST00000261383.3	-	25	3623	c.3624G>T	c.(3622-3624)aaG>aaT	p.K1208N	DNAH3_ENST00000415178.1_Missense_Mutation_p.K1208N	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1208	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TAAACTCAAGCTTGGCAATTC	0.448													A	21073899	C	A	21073899	3	1	577	1	0	0	0	0	1	0	0	0	4642	796	28	4	8877	4	DNAH3	16	21073899	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	18090081	21073899	69280854	7	48760											
HN1	51155	broad.mit.edu	37	chr17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatccaccacctggaggccGcaaaactctgcaaataatgg	13	6	10	12	1	1	0	0	0	1	0	2	2	2	2	4	4	2	2	4	4	4	1			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000465454.1_5'UTR|HN1_ENST00000482348.1_5'UTR|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000476258.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000405458.3_5'UTR	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393													A	73144759	G	A	73144759	3	1	577	1	0	0	0	0	1	0	0	0	7304	1086	38	1	516	1	HN1	17	73144759	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08		73144759	8050451	8	48761											
RNF126	55658	broad.mit.edu	37	chr19	649708	649708	+	Frame_Shift_Del	DEL	C	C	-																															gatggcatccaggccgttggCcccccaggcgtagtccatag																										TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:649708delC	ENST00000292363.5	-	6	702	c.547delG	c.(547-549)gccfs	p.A183fs		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	183							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|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)		AGGCCGTTGGCCCCCCAGGCG	0.672													-	649708	C	-	649708	7	5	577	1	0	1	0	1	0	0	0	0	13526	739	26	0	404	0	RNF126	19	649708	Frame_Shift_Del	DEL	C	TCGA-HT-8015-01B-11D-A289-08		649708	58479275	9	48762											
LRFN3	79414	broad.mit.edu	37	chr19	36430512	36430512	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcgctggaccgccgggcagCcgagctgcggctggcagaca	6	4	16	15	5	0	1	0	0	0	1	1	3	0	2	3	4	3	5	3	4	0	0			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:36430512C>A	ENST00000588831.1	+	3	1239	c.185C>A	c.(184-186)gCc>gAc	p.A62D	LRFN3_ENST00000246529.3_Missense_Mutation_p.A62D			Q9BTN0	LRFN3_HUMAN	leucine rich repeat and fibronectin type III domain containing 3	62					cell adhesion	axon|cell junction|dendrite|integral to membrane|postsynaptic membrane|presynaptic membrane				cervix(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	12	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CGCCGGGCAGCCGAGCTGCGG	0.701													A	36430512	C	A	36430512	3	1	577	1	0	0	0	0	1	0	0	0	9009	739	26	4	187	4	LRFN3	19	36430512	Missense_Mutation	SNP	C	TCGA-HT-8015-01B-11D-A289-08	35780804	36430512	22698471	10	48763											
ERCC2	2068	broad.mit.edu	37	chr19	45855771	45855771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctgaagctgcaccttgtcgGcaaagaccatgaggccgtag	10	7	12	12	2	0	3	0	2	0	1	1	3	0	3	4	2	2	4	4	2	3	2			TCGA-HT-8015-01B-11D-A289-08	TCGA-HT-8015-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e55afa04-bc32-4818-ba2e-58dd4092e082	dd28cfbb-397f-4b40-aa68-d769844fabc5	g.chr19:45855771G>A	ENST00000391945.4	-	21	2116	c.2039C>T	c.(2038-2040)gCc>gTc	p.A680V	ERCC2_ENST00000391944.3_Missense_Mutation_p.A602V	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	680					cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CACCTTGTCGGCAAAGACCAT	0.612			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	45855771	G	A	45855771	3	1	577	1	0	0	0	0	1	0	0	0	5254	1203	42	2	255	2	ERCC2	19	45855771	Missense_Mutation	SNP	G	TCGA-HT-8015-01B-11D-A289-08	9425259	45855771	13273212	11	48764											
SELENBP1	8991	broad.mit.edu	37	chr1	151338256	151338256	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcactcacctggcatttcggGcagcagccagcccttcactt	7	9	9	16	1	2	0	2	0	0	0	3	0	2	0	3	2	3	4	3	2	0	3			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:151338256G>C	ENST00000426705.2	-	8	1180	c.1036C>G	c.(1036-1038)Ccc>Gcc	p.P346A	SELENBP1_ENST00000435071.1_Missense_Mutation_p.P240A|SELENBP1_ENST00000447402.3_Missense_Mutation_p.P242A|SELENBP1_ENST00000368868.5_Missense_Mutation_p.P304A	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	304					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)			GGCATTTCGGGCAGCAGCCAG	0.577													C	151338256	G	C	151338256	3	2	578	1	0	0	0	0	1	0	0	0	14107	1203	42	4	528	4	SELENBP1	1	151338256	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		151338256	97912365	1	48765											
KCNT2	343450	broad.mit.edu	37	chr1	196274364	196274364	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgataatgtggggtcttacCttttccagttttgaaagagc	9	16	10	6	0	1	3	0	2	1	1	2	3	2	3	2	2	2	1	2	2	3	7			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr1:196274364C>T	ENST00000367433.5	-	21	2624	c.2523G>A	c.(2521-2523)aaG>aaA	p.K841K	KCNT2_ENST00000294725.9_Splice_Site_p.K865K|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Intron|KCNT2_ENST00000367431.4_Splice_Site_p.K791K|KCNT2_ENST00000609185.1_Splice_Site_p.K791K	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	865						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GGGGTCTTACCTTTTCCAGTT	0.338													T	196274364	C	T	196274364	5	4	578	1	0	0	0	0	0	0	1	0	8150	695	24	2	840	2	KCNT2	1	196274364	Splice_Site	SNP	C	TCGA-HT-8018-01A-11D-2395-08	44936108	196274364	52976257	2	48766											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	578	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		209113112	34086261	3	48767											
RBMS3	27303	broad.mit.edu	37	chr3	29323193	29323193	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgggcaaacgcctggatcaGccacaaatgtacccccagta	13	6	9	13	1	1	0	1	0	0	0	1	1	1	1	4	2	3	3	4	2	4	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:29323193G>A	ENST00000434693.2	+	1	721	c.21G>A	c.(19-21)caG>caA	p.Q7Q	RBMS3_ENST00000456853.1_Silent_p.Q7Q|RBMS3-AS3_ENST00000413430.1_RNA|RBMS3_ENST00000445033.1_Silent_p.Q7Q|RBMS3_ENST00000452462.1_Silent_p.Q7Q|RBMS3_ENST00000383766.2_Silent_p.Q7Q|RBMS3_ENST00000396583.3_Silent_p.Q7Q|RBMS3_ENST00000273139.9_Silent_p.Q7Q|RBMS3_ENST00000383767.2_Silent_p.Q7Q	NM_001003793.2	NP_001003793.1	Q6XE24	RBMS3_HUMAN	RNA binding motif, single stranded interacting protein 3	7						cytoplasm	nucleotide binding|RNA binding			breast(1)|central_nervous_system(1)|large_intestine(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	11		Ovarian(412;0.0956)				GCCTGGATCAGCCACAAATGT	0.522													A	29323193	G	A	29323193	2	1	578	1	0	0	0	0	0	0	0	1	13238	962	34	2		2	RBMS3	3	29323193	Silent	SNP	G	TCGA-HT-8018-01A-11D-2395-08		29323193	168699237	4	48768											
QRICH1	54870	broad.mit.edu	37	chr3	49070172	49070172	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccttggagaaggccagctTcatgtgctggtccactgtct	7	11	12	11	0	2	1	1	0	1	1	3	3	3	1	3	3	2	2	3	3	1	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr3:49070172T>C	ENST00000395443.2	-	8	2402	c.1930A>G	c.(1930-1932)Aag>Gag	p.K644E	QRICH1_ENST00000424300.1_Missense_Mutation_p.K644E|QRICH1_ENST00000357496.2_Missense_Mutation_p.K644E	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	644										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		AAGGCCAGCTTCATGTGCTGG	0.502													C	49070172	T	C	49070172	3	2	578	1	0	0	0	0	1	0	0	0	12967	1792	62	3	412	3	QRICH1	3	49070172	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	19746979	49070172	148952258	5	48769											
RGS12	6002	broad.mit.edu	37	chr4	3319342	3319342	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttctgtccggaccccgaagGgagccccccatttgaggccg	6	7	12	16	3	1	1	0	1	1	0	2	4	2	3	7	3	1	0	7	3	1	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr4:3319342G>A	ENST00000336727.3	+	2	2349	c.1445G>A	c.(1444-1446)gGg>gAg	p.G482E	RGS12_ENST00000344733.5_Missense_Mutation_p.G482E|RGS12_ENST00000543385.1_Missense_Mutation_p.G482E|RGS12_ENST00000382788.3_Missense_Mutation_p.G482E	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	482						condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GACCCCGAAGGGAGCCCCCCA	0.677													A	3319342	G	A	3319342	3	1	578	1	0	0	0	0	1	0	0	0	13384	1232	43	2	1447	2	RGS12	4	3319342	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		3319342	187834934	6	48770											
SLC26A8	116369	broad.mit.edu	37	chr6	35960439	35960439	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaagcccaaacccaataCgcccattattagctgcagag	15	7	7	12	1	0	2	0	1	0	1	0	2	0	2	3	0	5	2	3	0	7	3	rs150075304		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:35960439C>T	ENST00000490799.1	-	6	993	c.640G>A	c.(640-642)Gta>Ata	p.V214I	SLC26A8_ENST00000355574.2_Missense_Mutation_p.V214I|SLC26A8_ENST00000394602.2_Intron	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	214					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						AAACCCAATACGCCCATTATT	0.493													T	35960439	C	T	35960439	3	4	578	1	0	0	0	0	1	0	0	0	14617	536	19	1	2332	1	SLC26A8	6	35960439	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		35960439	135154628	7	48771											
TMEM63B	55362	broad.mit.edu	37	chr6	44118317	44118317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctggacctcttcttcCgctggctctttgataagaaa	8	12	8	13	1	3	2	0	1	3	1	4	3	4	3	4	2	1	2	4	2	2	4			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr6:44118317C>T	ENST00000259746.9	+	18	1807	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	TMEM63B_ENST00000323267.6_Missense_Mutation_p.R542C			Q5T3F8	TM63B_HUMAN	transmembrane protein 63B	542						integral to membrane	nucleotide binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			CCTCTTCTTCCGCTGGCTCTT	0.572													T	44118317	C	T	44118317	3	4	578	1	0	0	0	0	1	0	0	0	16291	652	23	1	1690	1	TMEM63B	6	44118317	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	8157878	44118317	126996750	8	48772											
IFRD1	3475	broad.mit.edu	37	chr7	112112278	112112278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttccattggttaggaacGggattttccaacagaaacca	12	12	8	9	1	1	1	0	0	1	1	3	3	3	3	3	3	3	1	3	3	4	6			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr7:112112278G>A	ENST00000403825.3	+	10	1307	c.1046G>A	c.(1045-1047)cGg>cAg	p.R349Q	IFRD1_ENST00000005558.4_Missense_Mutation_p.R349Q|IFRD1_ENST00000535603.1_Missense_Mutation_p.R299Q	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	349					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						GGTTAGGAACGGGATTTTCCA	0.383													A	112112278	G	A	112112278	3	1	578	1	0	0	0	0	1	0	0	0	7611	1116	39	1	1084	1	IFRD1	7	112112278	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		112112278	47026385	9	48773											
CYP11B1	1584	broad.mit.edu	37	chr8	143960802	143960802	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctctctgcagcgagctggGatttgctctgcaccatcccc	5	10	9	17	1	2	0	0	0	2	0	4	2	3	1	4	1	5	4	4	1	0	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr8:143960802G>T	ENST00000377675.3	-	2	340	c.334C>A	c.(334-336)Ccc>Acc	p.P112T	CYP11B1_ENST00000292427.4_Intron|CYP11B1_ENST00000517471.1_Intron			P15538	C11B1_HUMAN	cytochrome P450, family 11, subfamily B, polypeptide 1	80					aldosterone biosynthetic process|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|glucose homeostasis|immune response|regulation of blood pressure|response to stress|xenobiotic metabolic process	mitochondrial inner membrane	electron carrier activity|steroid 11-beta-monooxygenase activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|lung(36)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	67	all_cancers(97;4.74e-11)|all_epithelial(106;2.06e-08)|Lung NSC(106;0.000228)|all_lung(105;0.000633)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)				Mitotane(DB00648)	AGCGAGCTGGGATTTGCTCTG	0.602									Familial Hyperaldosteronism type I				T	143960802	G	T	143960802	3	4	578	1	0	0	0	0	1	0	0	0	4178	1189	41	4		4	CYP11B1	8	143960802	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		143960802	2403220	10	48774											
NOS1	4842	broad.mit.edu	37	chr12	117724027	117724027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctagtggtgtcgatctctTtgttcacctcttccagcctt	4	17	8	12	1	3	0	1	0	2	0	6	1	4	0	3	1	2	2	3	1	1	5			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr12:117724027T>C	ENST00000317775.6	-	6	1857	c.1172A>G	c.(1171-1173)aAa>aGa	p.K391R	NOS1_ENST00000338101.4_Missense_Mutation_p.K391R|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	391					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	GTCGATCTCTTTGTTCACCTC	0.532													C	117724027	T	C	117724027	3	2	578	1	0	0	0	0	1	0	0	0	10617	1841	64	3	3228	3	NOS1	12	117724027	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08		117724027	16127868	11	48775											
NLGN2	57555	broad.mit.edu	37	chr17	7318355	7318355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagccgctcaagtacacgCggctgctggcagccaaggtg	9	5	13	14	3	1	0	1	0	0	0	1	0	1	0	3	3	4	5	3	3	3	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7318355C>T	ENST00000302926.2	+	5	998	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	NLGN2_ENST00000575301.1_Missense_Mutation_p.R309W	NM_020795.2	NP_065846.1	Q8NFZ4	NLGN2_HUMAN	neuroligin 2	309					cell-cell junction maintenance|neuron cell-cell adhesion|positive regulation of synaptogenesis|regulation of inhibitory postsynaptic membrane potential|synapse assembly	cell surface|integral to plasma membrane|postsynaptic membrane	neurexin binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|prostate(2)|skin(3)	22		Prostate(122;0.157)				CAAGTACACGCGGCTGCTGGC	0.652													T	7318355	C	T	7318355	3	4	578	1	0	0	0	0	1	0	0	0	10538	759	27	1	943	1	NLGN2	17	7318355	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		7318355	73876855	12	48776											
TP53	7157	broad.mit.edu	37	chr17	7577117	7577117	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctcccaggacaggcacaaAcacgcacctcaaagctgttc	12	6	7	16	1	2	0	1	0	1	0	4	1	2	1	2	2	2	4	2	2	2	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7577117A>C	ENST00000420246.2	-	8	953	c.821T>G	c.(820-822)gTt>gGt	p.V274G	TP53_ENST00000445888.2_Missense_Mutation_p.V274G|TP53_ENST00000359597.4_Missense_Mutation_p.V274G|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.V274G|TP53_ENST00000269305.4_Missense_Mutation_p.V274G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	274	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V274A(19)|p.V274D(9)|p.V274G(8)|p.0?(8)|p.?(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.V274_P278del(1)|p.F270_D281del12(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		ACAGGCACAAACACGCACCTC	0.552		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)			C	7577117	A	C	7577117	3	2	578	1	0	0	0	0	1	0	0	0	16482	43	2	5	465	5	TP53	17	7577117	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08	258762	7577117	73618093	13	48777											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			A	7578212	G	A	7578212	4	1	578	1	0	0	0	0	0	1	0	0	16482	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	1095	7578212	73616998	14	48778											
NPHS1	4868	broad.mit.edu	37	chr19	36333388	36333388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcatggtgaatccgcaggCgccccgttggtcccctggat	5	9	14	13	3	0	1	0	1	0	0	2	2	2	2	5	5	0	3	5	5	1	1	rs146400394		TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:36333388C>T	ENST00000378910.5	-	18	2398	c.2399G>A	c.(2398-2400)cGc>cAc	p.R800H	NPHS1_ENST00000353632.6_Missense_Mutation_p.R800H	NM_004646.3	NP_004637.1	O60500	NPHN_HUMAN	nephrosis 1, congenital, Finnish type (nephrin)	800	Ig-like C2-type 7.				cell adhesion|excretion|muscle organ development	integral to plasma membrane		p.R800H(1)		NS(2)|breast(1)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(1)|lung(26)|ovary(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74	all_lung(56;7.14e-07)|Lung NSC(56;1.12e-06)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			AATCCGCAGGCGCCCCGTTGG	0.607													T	36333388	C	T	36333388	3	4	578	1	0	0	0	0	1	0	0	0	10658	768	27	1	1374	1	NPHS1	19	36333388	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		36333388	22795595	15	48779											
PRX	57716	broad.mit.edu	37	chr19	40902431	40902431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacatcgggcacggccatctCgggcaccttcgggagttgca	7	7	13	14	4	1	0	0	0	1	0	4	1	1	1	2	4	1	4	2	4	0	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:40902431C>T	ENST00000324001.7	-	7	2098	c.1828G>A	c.(1828-1830)Gag>Aag	p.E610K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	610	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGGCCATCTCGGGCACCTTC	0.532													T	40902431	C	T	40902431	3	4	578	1	0	0	0	0	1	0	0	0	12727	893	31	1	2561	1	PRX	19	40902431	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	4569043	40902431	18226552	16	48780											
SHKBP1	92799	broad.mit.edu	37	chr19	41094661	41094661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcggcagatgggcatggcGgctgcagtgctggcaatgac	8	7	17	9	2	0	2	0	1	0	1	1	2	0	2	0	5	2	6	0	5	1	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr19:41094661G>A	ENST00000291842.5	+	14	1517	c.1468G>A	c.(1468-1470)Ggc>Agc	p.G490S	SHKBP1_ENST00000597649.1_3'UTR|SHKBP1_ENST00000600733.1_Missense_Mutation_p.G465S	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	490						voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.G490S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TGGGCATGGCGGCTGCAGTGC	0.617													A	41094661	G	A	41094661	3	1	578	1	0	0	0	0	1	0	0	0	14378	1116	39	1	1522	1	SHKBP1	19	41094661	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08	192230	41094661	18034322	17	48781											
VPS16	64601	broad.mit.edu	37	chr20	2840757	2840759	+	In_Frame_Del	DEL	ATA	ATA	-																															tagtgtgaggccagtgctcgAtatatactctgcttccggca																										TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:2840757_2840759delATA	ENST00000380445.3	+	3	272_274	c.200_202delATA	c.(199-204)gatata>gta	p.67_68DI>V	VPS16_ENST00000380469.3_In_Frame_Del_p.67_68DI>V	NM_022575.2	NP_072097.2	Q9H269	VPS16_HUMAN	vacuolar protein sorting 16 homolog (S. cerevisiae)	67					intracellular protein transport	early endosome|HOPS complex|late endosome membrane|lysosomal membrane|recycling endosome				NS(3)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	37						CCAGTGCTCGATATATACTCTGC	0.591													-	2840759	ATA	-	2840757	7	5	578	1	0	1	0	1	0	0	0	0	17295	333	12	0	210	0	VPS16	20	2840757	In_Frame_Del	DEL	ATA	TCGA-HT-8018-01A-11D-2395-08		2840757	60184763	18	48782											
MYT1	4661	broad.mit.edu	37	chr20	62839768	62839768	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcctgccgagcagagcCagctgggcctgggagagcca	7	3	16	15	2	0	2	0	0	0	2	0	4	0	2	6	2	5	2	6	2	0	0			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr20:62839768C>T	ENST00000536311.1	+	7	1583	c.1219C>T	c.(1219-1221)Cag>Tag	p.Q407*	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Nonsense_Mutation_p.Q407*			Q01538	MYT1_HUMAN	myelin transcription factor 1	407					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CGAGCAGAGCCAGCTGGGCCT	0.672													T	62839768	C	T	62839768	4	4	578	1	0	0	0	0	0	1	0	0	10182	595	21	2	1237	2	MYT1	20	62839768	Nonsense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	59999011	62839768	185752	19	48783											
GGT5	2687	broad.mit.edu	37	chr22	24622165	24622165	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtagtggctgagctggtggtCcccccggccatcgatctgtt	4	11	14	12	2	1	1	0	1	1	0	3	2	2	1	4	4	1	4	4	4	1	2			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chr22:24622165C>A	ENST00000327365.4	-	8	1524	c.1108G>T	c.(1108-1110)Gac>Tac	p.D370Y	GGT5_ENST00000263112.7_Missense_Mutation_p.D338Y|GGT5_ENST00000418439.2_Missense_Mutation_p.D293Y|GGT5_ENST00000398292.3_Missense_Mutation_p.D370Y	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	370					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						AGCTGGTGGTCCCCCCGGCCA	0.697													A	24622165	C	A	24622165	3	1	578	1	0	0	0	0	1	0	0	0	6418	855	30	4	675	4	GGT5	22	24622165	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08		24622165	26682401	20	48784											
NHS	4810	broad.mit.edu	37	chrX	17743968	17743968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaattaagtgagaggggaaGgtcacgtctgtcccgaatgg	12	8	14	7	2	2	1	1	1	1	1	3	4	3	2	1	4	0	0	1	4	4	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:17743968G>T	ENST00000380060.3	+	6	2017	c.1679G>T	c.(1678-1680)aGg>aTg	p.R560M	NHS_ENST00000398097.3_Missense_Mutation_p.R404M	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	560						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					GAGAGGGGAAGGTCACGTCTG	0.597													T	17743968	G	T	17743968	3	4	578	1	0	0	0	0	1	0	0	0	10487	1000	35	4	1806	4	NHS	23	17743968	Missense_Mutation	SNP	G	TCGA-HT-8018-01A-11D-2395-08		17743968	137526592	21	48785											
VSIG4	11326	broad.mit.edu	37	chrX	65253439	65253439	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggtgctcaattggagggAtacatctcctggaaccttgt	9	11	12	9	0	2	0	1	0	1	0	3	3	2	3	2	4	3	1	2	4	3	3			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:65253439A>G	ENST00000455586.2	-	2	415	c.289T>C	c.(289-291)Tcc>Ccc	p.S97P	VSIG4_ENST00000374737.4_Missense_Mutation_p.S97P|VSIG4_ENST00000412866.2_Missense_Mutation_p.S97P	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4	97	Ig-like 1.				complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AATTGGAGGGATACATCTCCT	0.537													G	65253439	A	G	65253439	3	3	578	1	0	0	0	0	1	0	0	0	17327	333	12	3	942	3	VSIG4	23	65253439	Missense_Mutation	SNP	A	TCGA-HT-8018-01A-11D-2395-08	47509471	65253439	90017121	22	48786											
ATRX	546	broad.mit.edu	37	chrX	76931745	76931745	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggatcattgtcgtcaTcatcatcatccactgtgaca	10	13	6	12	1	6	1	6	1	1	0	9	2	7	2	1	1	0	0	1	1	0	1			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:76931745T>C	ENST00000373344.5	-	10	3999	c.3785A>G	c.(3784-3786)gAt>gGt	p.D1262G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.D1224G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1262	Poly-Asp.				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)	ATTGTCGTCATCATCATCATC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76931745	T	C	76931745	3	2	578	1	0	0	0	0	1	0	0	0	1213	1435	50	3	3797	3	ATRX	23	76931745	Missense_Mutation	SNP	T	TCGA-HT-8018-01A-11D-2395-08	11678306	76931745	78338815	23	48787											
PCDH11X	27328	broad.mit.edu	37	chrX	91134295	91134295	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtatccaagtttctaacaCaactttctaactattttttt	12	18	3	8	0	2	0	0	0	2	0	3	0	3	0	1	1	3	2	1	1	6	9			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:91134295C>A	ENST00000361724.1	+	2	3901	c.3056C>A	c.(3055-3057)aCa>aAa	p.T1019K	PCDH11X_ENST00000373097.1_Intron|PCDH11X_ENST00000395337.2_Intron|PCDH11X_ENST00000504220.2_Intron|PCDH11X_ENST00000361655.2_Intron|PCDH11X_ENST00000298274.8_Intron|PCDH11X_ENST00000406881.1_Intron|PCDH11X_ENST00000373088.1_Intron|PCDH11X_ENST00000373094.1_Intron	NM_014522.1	NP_055337.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						GTTTCTAACACAACTTTCTAA	0.378													A	91134295	C	A	91134295	3	1	578	1	0	0	0	0	1	0	0	0	11584	478	17	4	3062	4	PCDH11X	23	91134295	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	14202550	91134295	64136265	24	48788											
TBC1D8B	54885	broad.mit.edu	37	chrX	106061970	106061970	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcgcatcctacaccagacaCcagattctcaagtttacttg	11	12	5	13	1	1	2	1	0	1	2	4	2	2	2	3	0	2	2	3	0	3	6	rs143630640	byFrequency	TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:106061970C>G	ENST00000357242.5	+	2	382	c.208C>G	c.(208-210)Cca>Gca	p.P70A	TBC1D8B_ENST00000276175.3_Missense_Mutation_p.P70A|TBC1D8B_ENST00000481617.2_Missense_Mutation_p.P70A|TBC1D8B_ENST00000310452.2_Missense_Mutation_p.P70A	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	70						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACACCAGACACCAGATTCTCA	0.363													G	106061970	C	G	106061970	3	3	578	1	0	0	0	0	1	0	0	0	15726	507	18	4	214	4	TBC1D8B	23	106061970	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	14927675	106061970	49208590	25	48789											
PDZD4	57595	broad.mit.edu	37	chrX	153069212	153069212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacgggccgcttggccaCgtagcgggttccgtcgctgc	3	8	15	15	7	0	0	0	0	0	0	3	0	1	0	3	3	2	5	3	3	1	3			TCGA-HT-8018-01A-11D-2395-08	TCGA-HT-8018-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e43ccfe7-fa40-4168-925e-cda8c41db3ca	90acc6c9-bfed-426d-b85b-590b0e9535d6	g.chrX:153069212C>T	ENST00000164640.4	-	8	2097	c.1906G>A	c.(1906-1908)Gtg>Atg	p.V636M	PDZD4_ENST00000544474.1_Missense_Mutation_p.V527M|PDZD4_ENST00000393758.2_Missense_Mutation_p.V561M	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	636						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCTTGGCCACGTAGCGGGTT	0.701													T	153069212	C	T	153069212	3	4	578	1	0	0	0	0	1	0	0	0	11779	536	19	1	407	1	PDZD4	23	153069212	Missense_Mutation	SNP	C	TCGA-HT-8018-01A-11D-2395-08	47007242	153069212	2201348	26	48790											
MICA	100507436	broad.mit.edu	37	chr6	31378387	31378387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtgcagtcagggtttctTgctgaggtacatctggatgg	6	14	14	7	0	4	1	1	1	3	0	4	2	4	2	0	4	3	4	0	4	1	3	rs78945208	by1000genomes	TCGA-HT-8019-01A-21D-2395-08	TCGA-HT-8019-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02719fb3-2c30-4afa-b0e1-b51654332bdb	df62fbc1-7e1c-4a99-a231-47ec5ddfc1be	g.chr6:31378387T>C	ENST00000449934.2	+	2	192	c.138T>C	c.(136-138)ctT>ctC	p.L46L	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	46					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				CAGGGTTTCTTGCTGAGGTAC	0.532													C	31378387	T	C	31378387	2	2	579	1	0	0	0	0	0	0	0	1	9643	1799	63	3		3	MICA	6	31378387	Silent	SNP	T	TCGA-HT-8019-01A-21D-2395-08		31378387	139736680	1	48791											
EXOC6	54536	broad.mit.edu	37	chr10	94700482	94700482	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttttttttttgtattttAgggttatggttttccagtga	5	26	8	2	0	0	1	0	1	0	0	1	1	1	1	1	2	0	3	1	2	3	12			TCGA-HT-8019-01A-21D-2395-08	TCGA-HT-8019-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	02719fb3-2c30-4afa-b0e1-b51654332bdb	df62fbc1-7e1c-4a99-a231-47ec5ddfc1be	g.chr10:94700482A>T	ENST00000371552.4	+	13	1226		c.e13-1		EXOC6_ENST00000371547.4_Splice_Site|EXOC6_ENST00000260762.6_Splice_Site|EXOC6_ENST00000443748.2_Splice_Site	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6						protein transport|vesicle docking involved in exocytosis	exocyst				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				TTTGTATTTTAGGGTTATGGT	0.313													T	94700482	A	T	94700482	5	4	579	1	0	0	0	0	0	0	1	0	5349	434	15	5	1351	5	EXOC6	10	94700482	Splice_Site	SNP	A	TCGA-HT-8019-01A-21D-2395-08		94700482	40834265	2	48792											
PLOD1	5351	broad.mit.edu	37	chr1	12024322	12024322	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggctactatgcccgttcCgaggactacgtggacattgt	8	11	12	10	3	0	0	0	0	0	0	1	4	1	2	2	3	3	2	2	3	3	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:12024322C>T	ENST00000196061.4	+	12	1320	c.1293C>T	c.(1291-1293)tcC>tcT	p.S431S	PLOD1_ENST00000376369.3_Silent_p.S478S	NM_000302.3	NP_000293.2	Q02809	PLOD1_HUMAN	procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1	431					epidermis development|hydroxylysine biosynthetic process|protein modification process|response to hypoxia	rough endoplasmic reticulum membrane	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|procollagen-lysine 5-dioxygenase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	29	Ovarian(185;0.249)	Lung NSC(185;8.69e-05)|all_lung(284;9.87e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.000809)|KIRC - Kidney renal clear cell carcinoma(229;0.00267)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)	Minoxidil(DB00350)|Succinic acid(DB00139)|Vitamin C(DB00126)	ATGCCCGTTCCGAGGACTACG	0.627													T	12024322	C	T	12024322	2	4	580	1	0	0	0	0	0	0	0	1	12178	639	23	1		1	PLOD1	1	12024322	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08		12024322	237226299	1	48793											
ZNF683	257101	broad.mit.edu	37	chr1	26691676	26691676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacttgactgtgaatttctTgtcatcggtggagctggcct	6	15	12	8	1	2	2	1	2	1	0	3	3	2	3	1	3	2	2	1	3	2	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:26691676T>C	ENST00000436292.1	-	4	481	c.361A>G	c.(361-363)Aag>Gag	p.K121E	ZNF683_ENST00000374204.1_Missense_Mutation_p.K121E|ZNF683_ENST00000403843.1_Missense_Mutation_p.K121E|ZNF683_ENST00000349618.3_Missense_Mutation_p.K121E			Q8IZ20	ZN683_HUMAN	zinc finger protein 683	121					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(1)	15		all_cancers(24;2.39e-25)|Colorectal(325;3.46e-05)|all_lung(284;5.94e-05)|Lung NSC(340;7.26e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00637)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;1.76e-26)|Colorectal(126;1.38e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|BRCA - Breast invasive adenocarcinoma(304;0.00099)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00793)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.159)|LUSC - Lung squamous cell carcinoma(448;0.233)		GTGAATTTCTTGTCATCGGTG	0.577													C	26691676	T	C	26691676	3	2	580	1	0	0	0	0	1	0	0	0	18191	1821	63	3	1165	3	ZNF683	1	26691676	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	14667354	26691676	222558945	2	48794											
C8A	731	broad.mit.edu	37	chr1	57378109	57378109	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgaggtgctgcggcacacaAgcctggggcctctggaggcc	7	5	16	13	2	1	0	0	0	1	0	1	2	1	1	3	6	3	2	3	6	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:57378109A>T	ENST00000361249.3	+	10	1510	c.1414A>T	c.(1414-1416)Agc>Tgc	p.S472C		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	472	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						GCGGCACACAAGCCTGGGGCC	0.602													T	57378109	A	T	57378109	3	4	580	1	0	0	0	0	1	0	0	0	2440	72	3	5	1452	5	C8A	1	57378109	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	30686433	57378109	191872512	3	48795											
RPF1	80135	broad.mit.edu	37	chr1	84961976	84961976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattcaggaacttggaccaCgttttaccttaaaattaagg	14	12	8	7	1	1	0	1	0	0	0	1	3	1	2	2	3	2	1	2	3	6	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:84961976C>T	ENST00000370654.5	+	8	946	c.931C>T	c.(931-933)Cgt>Tgt	p.R311C		NM_025065.6	NP_079341.2	Q9H9Y2	RPF1_HUMAN	ribosome production factor 1 homolog (S. cerevisiae)	311	Brix.|RNA-binding (By similarity).				rRNA processing|translation	nucleolus	aminoacyl-tRNA ligase activity|ATP binding|rRNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(2)|prostate(1)	14						ACTTGGACCACGTTTTACCTT	0.328													T	84961976	C	T	84961976	3	4	580	1	0	0	0	0	1	0	0	0	13637	536	19	1	961	1	RPF1	1	84961976	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	27583867	84961976	164288645	4	48796											
ATP1A2	477	broad.mit.edu	37	chr1	160099056	160099056	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcttgtctcttctggcagCgggacacagctggtgatgcc	6	12	12	11	1	3	1	0	1	3	0	4	2	3	2	1	3	3	2	1	3	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:160099056C>T	ENST00000361216.3	+	11	1416	c.1327C>T	c.(1327-1329)Cgg>Tgg	p.R443W	ATP1A2_ENST00000392233.3_Splice_Site_p.R443W	NM_000702.3	NP_000693.1	P50993	AT1A2_HUMAN	ATPase, Na+/K+ transporting, alpha 2 polypeptide	443					ATP biosynthetic process		ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(30)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	69	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			CTTCTGGCAGCGGGACACAGC	0.557													T	160099056	C	T	160099056	5	4	580	1	0	0	0	0	0	0	1	0	1134	782	27	1	1369	1	ATP1A2	1	160099056	Splice_Site	SNP	C	TCGA-HT-8104-01A-11D-2395-08	75137080	160099056	89151565	5	48797											
FASLG	356	broad.mit.edu	37	chr1	172628551	172628551	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctccactaccgctgccaccCctgaagaagagagggaacca	12	4	9	16	1	0	3	0	1	0	2	1	5	1	4	7	1	3	1	7	1	4	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:172628551C>A	ENST00000367721.2	+	1	394	c.210C>A	c.(208-210)ccC>ccA	p.P70P	FASLG_ENST00000340030.3_Silent_p.P70P	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	70	Pro-rich.				activation of caspase activity|activation of pro-apoptotic gene products|cell-cell signaling|immune response|induction of necroptosis by extracellular signals|induction of necroptosis of activated-T cells|necrotic cell death|negative regulation of angiogenesis|positive regulation of I-kappaB kinase/NF-kappaB cascade|signal transduction	extracellular space|integral to plasma membrane	cytokine activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						cgctgccaccCCTGAAGAAGA	0.617													A	172628551	C	A	172628551	2	1	580	1	0	0	0	0	0	0	0	1	5731	610	22	4		4	FASLG	1	172628551	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12529495	172628551	76622070	6	48798											
MIA3	375056	broad.mit.edu	37	chr1	222835662	222835662	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttcccctaccagggtactCgatgaaggcaaggtaaatgc	11	9	10	11	1	1	1	0	1	1	0	3	2	2	1	3	3	3	3	3	3	6	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:222835662C>T	ENST00000344922.5	+	26	5275	c.5250C>T	c.(5248-5250)ctC>ctT	p.L1750L	MIA3_ENST00000340535.7_Silent_p.L628L|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Silent_p.L1750L	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1750	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		CCAGGGTACTCGATGAAGGCA	0.423													T	222835662	C	T	222835662	2	4	580	1	0	0	0	0	0	0	0	1	9640	871	31	1		1	MIA3	1	222835662	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	50207111	222835662	26414959	7	48799											
TRIM58	25893	broad.mit.edu	37	chr1	248039261	248039261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctcttgaccgccgacctgCgcagtgtgcaggatggagaa	8	8	14	11	3	1	2	0	1	1	1	1	5	1	3	3	2	3	3	3	2	1	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248039261C>T	ENST00000366481.3	+	6	979	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	311	B30.2/SPRY.					intracellular	zinc ion binding	p.R311C(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CGCCGACCTGCGCAGTGTGCA	0.572													T	248039261	C	T	248039261	3	4	580	1	0	0	0	0	1	0	0	0	16632	768	27	1	953	1	TRIM58	1	248039261	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	25203599	248039261	1211360	8	48800											
OR2G6	391211	broad.mit.edu	37	chr1	248685544	248685544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actttcaacgaggcagaactCtttgtggccagtgtagtctt	9	13	10	9	1	3	1	1	0	2	1	3	2	3	1	1	2	2	2	1	2	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr1:248685544C>T	ENST00000343414.4	+	1	629	c.597C>T	c.(595-597)ctC>ctT	p.L199L		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCAGAACTCTTTGTGGCCA	0.473													T	248685544	C	T	248685544	2	4	580	1	0	0	0	0	0	0	0	1	11076	900	32	2		2	OR2G6	1	248685544	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	646283	248685544	565077	9	48801											
TTC27	55622	broad.mit.edu	37	chr2	32858959	32858959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcagacaacagttgatatttCtacttggtgtgagcagtttg	10	14	11	6	0	1	3	0	2	1	1	1	3	1	3	0	1	3	4	0	1	3	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:32858959C>G	ENST00000317907.4	+	3	514	c.283C>G	c.(283-285)Cta>Gta	p.L95V		NM_001193509.1|NM_017735.4	NP_001180438.1|NP_060205.3	Q6P3X3	TTC27_HUMAN	tetratricopeptide repeat domain 27	95							protein binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(14)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38						GTTGATATTTCTACTTGGTGT	0.368													G	32858959	C	G	32858959	3	3	580	1	0	0	0	0	1	0	0	0	16797	912	32	4	293	4	TTC27	2	32858959	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		32858959	210340414	10	48802											
THSD7B	80731	broad.mit.edu	37	chr2	138378230	138378230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccctgcttggtggaatgcGtggtcaactgtcagctctca	6	13	11	11	1	3	0	3	0	1	0	5	1	4	1	1	3	4	2	1	3	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:138378230G>A	ENST00000409968.1	+	20	3911	c.3733G>A	c.(3733-3735)Gtg>Atg	p.V1245M	THSD7B_ENST00000272643.3_Missense_Mutation_p.V1248M|THSD7B_ENST00000413152.2_Missense_Mutation_p.V1217M|THSD7B_ENST00000543459.1_Intron					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GGTGGAATGCGTGGTCAACTG	0.468													A	138378230	G	A	138378230	3	1	580	1	0	0	0	0	1	0	0	0	15980	1145	40	1	3719	1	THSD7B	2	138378230	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	105519271	138378230	104821143	11	48803											
LRP1B	53353	broad.mit.edu	37	chr2	141072598	141072598	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaataactgggccaacagtgAcacctcaaatcacctttctc	13	9	6	13	0	3	1	2	1	1	0	4	2	3	1	3	1	2	0	3	1	4	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:141072598A>C	ENST00000389484.3	-	83	13682	c.12711T>G	c.(12709-12711)tgT>tgG	p.C4237W		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	4237	EGF-like 10.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		GCCAACAGTGACACCTCAAAT	0.383										TSP Lung(27;0.18)			C	141072598	A	C	141072598	3	2	580	1	0	0	0	0	1	0	0	0	9025	273	10	5	1124	5	LRP1B	2	141072598	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	2694368	141072598	102126775	12	48804											
EPC2	26122	broad.mit.edu	37	chr2	149528637	149528637	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatggaccgaatatccacAgaacatgacccagtcctgaa	16	7	7	11	1	0	3	0	2	0	1	2	5	2	4	4	1	1	0	4	1	5	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:149528637A>G	ENST00000258484.6	+	10	1435	c.1401A>G	c.(1399-1401)acA>acG	p.T467T		NM_015630.3	NP_056445.3	Q52LR7	EPC2_HUMAN	enhancer of polycomb homolog 2 (Drosophila)	467					chromatin modification|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.0516)		GAATATCCACAGAACATGACC	0.383													G	149528637	A	G	149528637	2	3	580	1	0	0	0	0	0	0	0	1	5202	175	7	3		3	EPC2	2	149528637	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	8456039	149528637	93670736	13	48805											
LRP2	4036	broad.mit.edu	37	chr2	170038807	170038807	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaagaggccatccaggcGggcatccaaccagtagagct	13	4	12	12	1	0	2	0	0	0	2	2	3	2	2	4	3	2	3	4	3	3	1	rs144973875		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:170038807G>A	ENST00000263816.3	-	51	10153	c.9868C>T	c.(9868-9870)Cgc>Tgc	p.R3290C	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3290					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R3290C(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCATCCAGGCGGGCATCCAAC	0.502													A	170038807	G	A	170038807	3	1	580	1	0	0	0	0	1	0	0	0	9026	1116	39	1	4215	1	LRP2	2	170038807	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	20510170	170038807	73160566	14	48806											
SF3B1	23451	broad.mit.edu	37	chr2	198267364	198267364	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatctgttgtacaatcttaaTaccagtgtgtctcgcttgcc	8	16	7	10	1	3	0	0	0	3	0	4	0	3	0	2	0	3	3	2	0	5	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:198267364T>A	ENST00000335508.6	-	14	2084	c.1993A>T	c.(1993-1995)Att>Ttt	p.I665F		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			ACAATCTTAATACCAGTGTGT	0.408			Mis		myelodysplastic syndrome								A	198267364	T	A	198267364	3	1	580	1	0	0	0	0	1	0	0	0	14242	1406	49	5	1969	5	SF3B1	2	198267364	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	28228557	198267364	44932009	15	48807											
MAP2	4133	broad.mit.edu	37	chr2	210558554	210558554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaaggagttggagctgcaAcatcagctgagcttgatatg	11	11	13	6	0	1	3	1	3	0	0	1	5	1	5	0	2	5	5	0	2	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:210558554A>G	ENST00000360351.4	+	7	2166	c.1660A>G	c.(1660-1662)Aca>Gca	p.T554A	MAP2_ENST00000447185.1_Missense_Mutation_p.T550A|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000199940.6_Intron|MAP2_ENST00000361559.4_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	554					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TGGAGCTGCAACATCAGCTGA	0.368													G	210558554	A	G	210558554	3	3	580	1	0	0	0	0	1	0	0	0	9310	43	2	3	1674	3	MAP2	2	210558554	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	12291190	210558554	32640819	16	48808											
AP1S3	130340	broad.mit.edu	37	chr2	224629906	224629906	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatcatcatctttctccCatggtttgggaaaccgtact	9	14	6	12	1	5	0	3	0	2	0	6	1	5	1	2	2	2	2	2	2	2	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:224629906C>T	ENST00000446015.2	-	4	486	c.453G>A	c.(451-453)atG>atA	p.M151I	AP1S3_ENST00000396653.2_3'UTR|AP1S3_ENST00000396654.2_Intron|AP1S3_ENST00000443700.1_Intron			Q96PC3	AP1S3_HUMAN	adaptor-related protein complex 1, sigma 3 subunit	151					endocytosis|intracellular protein transport|post-Golgi vesicle-mediated transport|regulation of defense response to virus by virus|viral reproduction	coated pit|cytoplasmic vesicle membrane|cytosol|Golgi membrane|lysosomal membrane|membrane coat	protein transporter activity			NS(1)|breast(1)|lung(2)	4		Renal(207;0.0112)|Lung NSC(271;0.0186)|all_lung(227;0.0272)		Epithelial(121;7.6e-10)|all cancers(144;3.62e-07)|Lung(261;0.0086)|LUSC - Lung squamous cell carcinoma(224;0.00902)		atcTTTCTCCCATGGTTTGGG	0.373													T	224629906	C	T	224629906	3	4	580	1	0	0	0	0	1	0	0	0	740	609	21	2		2	AP1S3	2	224629906	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	14071352	224629906	18569467	17	48809											
IQCA1	79781	broad.mit.edu	37	chr2	237308067	237308067	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaactgacctttgtatgcgTtacatccttccttcattgca	9	16	5	11	1	1	1	1	1	0	0	3	1	3	1	3	0	4	3	3	0	4	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:237308067T>C	ENST00000409907.3	-	9	1473	c.1199A>G	c.(1198-1200)aAc>aGc	p.N400S	IQCA1_ENST00000431676.2_Missense_Mutation_p.N359S|IQCA1_ENST00000309507.5_Missense_Mutation_p.N396S|IQCA1_ENST00000465621.1_5'UTR	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	400	Lys-rich.						ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TTTGTATGCGTTACATCCTTC	0.463													C	237308067	T	C	237308067	3	2	580	1	0	0	0	0	1	0	0	0	7860	1725	60	3	1313	3	IQCA1	2	237308067	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	12678161	237308067	5891306	18	48810											
COL6A3	1293	broad.mit.edu	37	chr2	238274357	238274357	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaccttcacgctgtccggcGaggactgtctgaacttgttc	7	11	11	12	3	2	2	1	1	1	1	4	4	3	3	2	2	1	2	2	2	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:238274357G>A	ENST00000295550.4	-	12	6274	c.5822C>T	c.(5821-5823)tCg>tTg	p.S1941L	COL6A3_ENST00000472056.1_Missense_Mutation_p.S1334L|COL6A3_ENST00000409809.1_Missense_Mutation_p.S1735L|COL6A3_ENST00000347401.3_Missense_Mutation_p.S1740L|COL6A3_ENST00000353578.4_Missense_Mutation_p.S1735L|COL6A3_ENST00000346358.4_Missense_Mutation_p.S1741L	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1941	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCTGTCCGGCGAGGACTGTCT	0.552													A	238274357	G	A	238274357	3	1	580	1	0	0	0	0	1	0	0	0	3732	1059	37	1	3843	1	COL6A3	2	238274357	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	966290	238274357	4925016	19	48811											
HDLBP	3069	broad.mit.edu	37	chr2	242194885	242194885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgagggtgggatctcaacGgaaactccagttctctcaag	10	10	11	10	1	4	1	2	1	3	0	7	3	5	3	1	3	2	1	1	3	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr2:242194885G>A	ENST00000391975.1	-	8	1211	c.984C>T	c.(982-984)tcC>tcT	p.S328S	HDLBP_ENST00000427183.2_Intron|HDLBP_ENST00000391976.2_Silent_p.S328S|HDLBP_ENST00000310931.4_Silent_p.S328S	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	328	KH 3.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		GGATCTCAACGGAAACTCCAG	0.473													A	242194885	G	A	242194885	2	1	580	1	0	0	0	0	0	0	0	1	7080	1103	39	1		1	HDLBP	2	242194885	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	3920528	242194885	1004488	20	48812											
GRK7	131890	broad.mit.edu	37	chr3	141497220	141497220	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgacagcaaagagctgcagCggcggcggcgtagcctggcc	8	3	17	13	5	0	1	0	0	0	1	0	2	0	1	2	4	5	4	2	4	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:141497220C>T	ENST00000264952.2	+	1	231	c.94C>T	c.(94-96)Cgg>Tgg	p.R32W		NM_139209.2	NP_631948.1	Q8WTQ7	GRK7_HUMAN	G protein-coupled receptor kinase 7	32					visual perception	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	26						AGAGCTGCAGCGGCGGCGGCG	0.682													T	141497220	C	T	141497220	3	4	580	1	0	0	0	0	1	0	0	0	6849	759	27	1	96	1	GRK7	3	141497220	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		141497220	56525210	21	48813											
MCF2L2	23101	broad.mit.edu	37	chr3	183107495	183107495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccccttacctgaaagaatgGcaaattgtctgtgaagttgt	11	12	10	8	0	1	3	0	2	1	1	1	3	1	3	3	1	1	2	3	1	5	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr3:183107495G>A	ENST00000328913.3	-	2	446	c.149C>T	c.(148-150)gCc>gTc	p.A50V	MCF2L2_ENST00000447025.2_Missense_Mutation_p.A50V|MCF2L2_ENST00000473233.1_Missense_Mutation_p.A50V|MCF2L2_ENST00000414362.2_Missense_Mutation_p.A50V	NM_015078.2	NP_055893	Q86YR7	MF2L2_HUMAN	MCF.2 cell line derived transforming sequence-like 2	50	CRAL-TRIO.				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(25)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	72	all_cancers(143;1.26e-12)|Ovarian(172;0.0355)		all cancers(12;3.35e-44)|Epithelial(37;6.48e-38)|LUSC - Lung squamous cell carcinoma(7;7.12e-25)|Lung(8;6.39e-23)|OV - Ovarian serous cystadenocarcinoma(80;6.75e-21)			TGAAAGAATGGCAAATTGTCT	0.433													A	183107495	G	A	183107495	3	1	580	1	0	0	0	0	1	0	0	0	9455	1203	42	2	3311	2	MCF2L2	3	183107495	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	41610275	183107495	14914935	22	48814											
KIAA0232	9778	broad.mit.edu	37	chr4	6865324	6865324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagccccagttttaaacCgaaatcaatcctctgttctg	10	14	5	12	1	4	0	2	0	2	0	5	1	5	0	4	0	2	2	4	0	4	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:6865324C>T	ENST00000307659.5	+	7	3670	c.3215C>T	c.(3214-3216)cCg>cTg	p.P1072L	KIAA0232_ENST00000425103.1_Missense_Mutation_p.P1072L	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	1072							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						AGTTTTAAACCGAAATCAATC	0.418													T	6865324	C	T	6865324	3	4	580	1	0	0	0	0	1	0	0	0	8221	652	23	1	3233	1	KIAA0232	4	6865324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		6865324	184288952	23	48815											
GABRA4	2557	broad.mit.edu	37	chr4	46995377	46995377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaccgccaggcacaggaagCgcaggagggcgaaactgacc	14	1	14	12	3	0	1	0	1	0	0	0	4	0	3	3	4	3	2	3	4	3	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:46995377C>T	ENST00000264318.3	-	1	1047	c.65G>A	c.(64-66)cGc>cAc	p.R22H	GABRA4_ENST00000509316.1_5'UTR	NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	22					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GCACAGGAAGCGCAGGAGGGC	0.592													T	46995377	C	T	46995377	3	4	580	1	0	0	0	0	1	0	0	0	6215	768	27	1	1635	1	GABRA4	4	46995377	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	40130053	46995377	144158899	24	48816											
LNX1	84708	broad.mit.edu	37	chr4	54327127	54327127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagtaattcttcctttaaGttctttcagcagtcttgcca	9	17	6	9	0	4	1	1	0	3	1	5	1	5	1	2	0	2	3	2	0	3	9			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:54327127G>A	ENST00000306888.2	-	10	2097	c.1846C>T	c.(1846-1848)Ctt>Ttt	p.L616F	FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.L712F	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	712						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			CTTCCTTTAAGTTCTTTCAGC	0.343													A	54327127	G	A	54327127	3	1	580	1	0	0	0	0	1	0	0	0	8926	1029	36	2	56	2	LNX1	4	54327127	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	7331750	54327127	136827149	25	48817											
KDR	3791	broad.mit.edu	37	chr4	55961110	55961110	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctttcccttgacggaatcGtgcccctttggtctataaaa	8	14	8	11	2	2	1	0	1	2	0	4	2	3	2	3	2	1	0	3	2	4	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:55961110G>A	ENST00000263923.4	-	21	3125	c.2830C>T	c.(2830-2832)Cga>Tga	p.R944*		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	944	Protein kinase.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity	p.R944R(1)		NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	TGACGGAATCGTGCCCCTTTG	0.433			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55961110	G	A	55961110	4	1	580	1	0	0	0	0	0	1	0	0	8197	1153	40	1	1280	1	KDR	4	55961110	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1633983	55961110	135193166	26	48818											
ADH1B	125	broad.mit.edu	37	chr4	100237088	100237088	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actgcagacccataaccagtCgagaatccacagccaatgag	15	5	8	13	1	0	3	0	1	0	2	2	4	1	3	4	0	3	1	4	0	3	1	rs142861273		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr4:100237088C>T	ENST00000305046.8	-	5	601	c.534G>A	c.(532-534)tcG>tcA	p.S178S	ADH1B_ENST00000394887.3_Silent_p.S138S			P00325	ADH1B_HUMAN	alcohol dehydrogenase 1B (class I), beta polypeptide	178					ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	33				OV - Ovarian serous cystadenocarcinoma(123;1.02e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATAACCAGTCGAGAATCCAC	0.498													T	100237088	C	T	100237088	2	4	580	1	0	0	0	0	0	0	0	1	308	871	31	1		1	ADH1B	4	100237088	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	44275978	100237088	90917188	27	48819											
ADAMTS12	81792	broad.mit.edu	37	chr5	33683148	33683148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttcgagtagaatgagcCgaaccacaacaatgtgaatt	14	10	8	9	2	1	3	0	2	1	1	2	5	1	3	2	0	3	1	2	0	6	4	rs61754760		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:33683148C>T	ENST00000504830.1	-	5	1225	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.R297Q|ADAMTS12_ENST00000504582.1_5'UTR	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	297	Peptidase M12B.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						TAGAATGAGCCGAACCACAAC	0.433										HNSCC(64;0.19)			T	33683148	C	T	33683148	3	4	580	1	0	0	0	0	1	0	0	0	257	652	23	1	3974	1	ADAMTS12	5	33683148	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		33683148	147232112	28	48820											
SPEF2	79925	broad.mit.edu	37	chr5	35646854	35646854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctaaacctgcatcaaatcGtactttgaaagcactcgagg	13	10	7	11	2	1	1	1	1	0	0	4	2	2	1	2	1	4	3	2	1	5	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:35646854G>A	ENST00000440995.2	+	5	671	c.671G>A	c.(670-672)cGt>cAt	p.R224H	SPEF2_ENST00000282469.6_Missense_Mutation_p.R224H|SPEF2_ENST00000356031.3_Missense_Mutation_p.R224H|SPEF2_ENST00000509059.1_Missense_Mutation_p.R224H			Q9C093	SPEF2_HUMAN	sperm flagellar 2	224					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)			GCATCAAATCGTACTTTGAAA	0.333													A	35646854	G	A	35646854	3	1	580	1	0	0	0	0	1	0	0	0	15131	1145	40	1	689	1	SPEF2	5	35646854	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1963706	35646854	145268406	29	48821											
GZMK	3003	broad.mit.edu	37	chr5	54329739	54329739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaagcaaccttgtcccGcctcatacaaattaagttac	15	10	4	12	1	2	0	2	0	0	0	3	0	3	0	3	0	4	2	3	0	7	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:54329739G>A	ENST00000231009.2	+	5	850	c.780G>A	c.(778-780)ccG>ccA	p.P260P	CTD-2313F11.1_ENST00000609699.1_RNA|CTD-2313F11.1_ENST00000595218.1_RNA	NM_002104.2	NP_002095.1	P49863	GRAK_HUMAN	granzyme K (granzyme 3; tryptase II)	260					proteolysis	extracellular region	serine-type endopeptidase activity	p.P260P(1)		autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)	15		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				ACCTTGTCCCGCCTCATACAA	0.408													A	54329739	G	A	54329739	2	1	580	1	0	0	0	0	0	0	0	1	6973	1074	38	1		1	GZMK	5	54329739	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18682885	54329739	126585521	30	48822											
GPR98	84059	broad.mit.edu	37	chr5	89954001	89954001	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgtatatggaggagctcGtatttcggaagaaaatacta	13	13	10	5	2	1	1	0	0	1	1	3	4	1	4	0	3	2	3	0	3	8	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:89954001G>C	ENST00000405460.2	+	21	4754	c.4658G>C	c.(4657-4659)cGt>cCt	p.R1553P		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1553					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGGAGCTCGTATTTCGGAA	0.348													C	89954001	G	C	89954001	3	2	580	1	0	0	0	0	1	0	0	0	6776	1145	40	4	4740	4	GPR98	5	89954001	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	35624262	89954001	90961259	31	48823											
FBN2	2201	broad.mit.edu	37	chr5	127714467	127714467	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcaaactgccttaccaaTgcatgcttgcttggtaggag	12	10	10	9	0	0	0	0	0	0	0	0	1	0	1	2	2	7	5	2	2	5	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:127714467T>A	ENST00000508053.1	-	18	2694	c.1720A>T	c.(1720-1722)Att>Ttt	p.I574F	FBN2_ENST00000508989.1_Missense_Mutation_p.I541F|FBN2_ENST00000262464.4_Missense_Mutation_p.I574F			P35556	FBN2_HUMAN	fibrillin 2	574	EGF-like 7; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		GCCTTACCAATGCATGCTTGC	0.363													A	127714467	T	A	127714467	3	1	580	1	0	0	0	0	1	0	0	0	5752	1464	51	5	7234	5	FBN2	5	127714467	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	37760466	127714467	53200793	32	48824											
FAT2	2196	broad.mit.edu	37	chr5	150924339	150924339	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagataggggtcaattcGgaaatatgtgtaatcttctg	12	12	10	7	1	3	1	1	0	2	1	4	2	3	2	1	3	0	1	1	3	6	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:150924339G>A	ENST00000261800.5	-	9	6361	c.6349C>T	c.(6349-6351)Cga>Tga	p.R2117*		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2117	Cadherin 18.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	p.R2117*(1)		NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGGTCAATTCGGAAATATGTG	0.428													A	150924339	G	A	150924339	4	1	580	1	0	0	0	0	0	1	0	0	5739	1124	39	1	6760	1	FAT2	5	150924339	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	23209872	150924339	29990921	33	48825											
FAM71B	153745	broad.mit.edu	37	chr5	156590151	156590151	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcgtaatactgcctgcaaaCgccgcactcaagctgctgtc	9	9	9	14	3	1	0	1	0	0	0	3	0	1	0	2	0	6	5	2	0	4	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:156590151C>T	ENST00000302938.4	-	2	1220	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	375						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			TGCCTGCAAACGCCGCACTCA	0.582													T	156590151	C	T	156590151	2	4	580	1	0	0	0	0	0	0	0	1	5658	523	19	1		1	FAM71B	5	156590151	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	5665812	156590151	24325109	34	48826											
EBF1	1879	broad.mit.edu	37	chr5	158158158	158158158	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccataatcgatggtgggttcGttgagcgctgcaataaagaa	12	10	12	7	3	0	2	0	1	0	1	2	3	0	2	1	2	2	4	1	2	5	4	rs146276323		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:158158158G>A	ENST00000313708.6	-	11	1326	c.1044C>T	c.(1042-1044)aaC>aaT	p.N348N	EBF1_ENST00000517373.1_Silent_p.N340N|EBF1_ENST00000518836.1_5'UTR|EBF1_ENST00000380654.4_Silent_p.N317N	NM_024007.3	NP_076870.1	Q9UH73	COE1_HUMAN	early B-cell factor 1	348					multicellular organismal development	nucleus	DNA binding|metal ion binding		HMGA2/EBF1(2)	breast(3)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42	Renal(175;0.00196)	Acute lymphoblastic leukemia(3;2.99e-06)|all_hematologic(3;0.000772)|Medulloblastoma(196;0.037)|all_neural(177;0.143)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTGGGTTCGTTGAGCGCTG	0.448			T	HMGA2	lipoma								A	158158158	G	A	158158158	2	1	580	1	0	0	0	0	0	0	0	1	4919	1136	40	1		1	EBF1	5	158158158	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1568007	158158158	22757102	35	48827											
TLX3	30012	broad.mit.edu	37	chr5	170738554	170738554	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctctgcagaatctgcagcCctgggaggaggatagttcca	9	9	13	10	0	2	1	0	0	2	1	3	4	3	4	2	3	4	4	2	3	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr5:170738554C>A	ENST00000296921.5	+	3	909	c.827C>A	c.(826-828)cCc>cAc	p.P276H		NM_021025.2	NP_066305.2	O43711	TLX3_HUMAN	T-cell leukemia homeobox 3	276						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)	1	Renal(175;0.000159)|Lung NSC(126;0.00576)|all_lung(126;0.00963)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AATCTGCAGCCCTGGGAGGAG	0.637			T	BCL11B	T-ALL								A	170738554	C	A	170738554	3	1	580	1	0	0	0	0	1	0	0	0	16062	623	22	4	837	4	TLX3	5	170738554	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12580396	170738554	10176706	36	48828											
KHDRBS2	202559	broad.mit.edu	37	chr6	62611199	62611199	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgcctctaatacctctGccacgaccagagtcctctga	8	10	6	17	1	4	2	0	1	4	1	5	3	5	2	6	0	3	0	6	0	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:62611199G>A	ENST00000281156.4	-	5	839	c.561C>T	c.(559-561)ggC>ggT	p.G187G		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	187					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		TAATACCTCTGCCACGACCAG	0.403													A	62611199	G	A	62611199	2	1	580	1	0	0	0	0	0	0	0	1	8205	1306	46	2		2	KHDRBS2	6	62611199	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		62611199	108503868	37	48829											
RNGTT	8732	broad.mit.edu	37	chr6	89511325	89511325	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccatccatttcatggctcacTtctttggcaaaatttccttc	8	16	4	13	0	3	0	2	0	1	0	6	0	5	0	3	2	0	2	3	2	2	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:89511325T>G	ENST00000369485.4	-	12	1482	c.1296A>C	c.(1294-1296)gaA>gaC	p.E432D	RNGTT_ENST00000538899.1_Intron|RNGTT_ENST00000369475.3_Missense_Mutation_p.E432D|RNGTT_ENST00000265607.6_Intron	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	432	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CATGGCTCACTTCTTTGGCAA	0.323													G	89511325	T	G	89511325	3	3	580	1	0	0	0	0	1	0	0	0	13594	1606	56	5	517	5	RNGTT	6	89511325	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	26900126	89511325	81603742	38	48830											
NMBR	4829	broad.mit.edu	37	chr6	142397176	142397176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttagccaggcgtttcCgtgtttccatctgcaaatat	9	15	7	10	2	1	0	0	0	1	0	3	0	3	0	3	1	2	3	3	1	4	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr6:142397176C>T	ENST00000258042.1	-	3	922	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	261					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CAGGCGTTTCCGTGTTTCCAT	0.378													T	142397176	C	T	142397176	3	4	580	1	0	0	0	0	1	0	0	0	10563	652	23	1	394	1	NMBR	6	142397176	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	52885851	142397176	28717891	39	48831											
EGFR	1956	broad.mit.edu	37	chr7	55241722	55241722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggctccggtgcgttcGgcacggtgtataaggtaagg	6	10	17	8	4	0	0	0	0	0	0	2	0	1	0	1	6	2	6	1	6	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55241722G>A	ENST00000275493.2	+	18	2347	c.2170G>A	c.(2170-2172)Ggc>Agc	p.G724S	EGFR_ENST00000455089.1_Missense_Mutation_p.G679S|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Missense_Mutation_p.G671S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	724	Protein kinase.		G -> S (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G724S(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CGGTGCGTTCGGCACGGTGTA	0.562		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241722	G	A	55241722	3	1	580	1	0	0	0	0	1	0	0	0	5006	1116	39	1	2504	1	EGFR	7	55241722	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		55241722	103896941	40	48832											
EGFR	1956	broad.mit.edu	37	chr7	55260473	55260473	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccaaggtgcctatcaagtgGatggcattggaatcaatttt	11	12	10	8	0	2	0	2	0	0	0	2	2	2	2	2	4	1	1	2	4	5	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:55260473G>A	ENST00000275493.2	+	22	2817	c.2640G>A	c.(2638-2640)tgG>tgA	p.W880*	EGFR_ENST00000455089.1_Nonsense_Mutation_p.W835*|EGFR_ENST00000442591.1_Intron|EGFR_ENST00000454757.2_Nonsense_Mutation_p.W827*	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	880	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CTATCAAGTGGATGGCATTGG	0.433		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55260473	G	A	55260473	4	1	580	1	0	0	0	0	0	1	0	0	5006	1183	41	2	2990	2	EGFR	7	55260473	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	18751	55260473	103878190	41	48833											
ZC3HAV1L	92092	broad.mit.edu	37	chr7	138713589	138713589	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgatgggaccgtttgcAggtctgaagtttgcattctc	8	13	12	8	1	2	2	0	2	2	0	3	3	2	3	1	2	3	5	1	2	2	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr7:138713589A>T	ENST00000275766.1	-	3	630	c.619T>A	c.(619-621)Tgc>Agc	p.C207S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	207										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						GACCGTTTGCAGGTCTGAAGT	0.433													T	138713589	A	T	138713589	3	4	580	1	0	0	0	0	1	0	0	0	17677	188	7	5	295	5	ZC3HAV1L	7	138713589	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08	83453116	138713589	20425074	42	48834											
RP1	6101	broad.mit.edu	37	chr8	55534023	55534023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatggcgacccgaagaCgaggcgtgcggttcttctga	9	7	15	10	5	2	2	0	1	2	1	2	6	2	3	1	4	1	1	1	4	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:55534023C>T	ENST00000220676.1	+	2	645	c.497C>T	c.(496-498)aCg>aTg	p.T166M		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	166	Doublecortin 2.				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.T166M(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			GACCCGAAGACGAGGCGTGCG	0.642													T	55534023	C	T	55534023	3	4	580	1	0	0	0	0	1	0	0	0	13623	536	19	1	499	1	RP1	8	55534023	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		55534023	90829999	43	48835											
CA13	377677	broad.mit.edu	37	chr8	86180769	86180769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcctgggactactggacAtatcctggttctcttacagt	8	13	8	12	0	1	0	0	0	1	0	4	2	3	2	3	3	2	1	3	3	3	4	rs143754749		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:86180769A>G	ENST00000321764.3	+	6	884	c.582A>G	c.(580-582)acA>acG	p.T194T	CA13_ENST00000517298.1_3'UTR	NM_198584.2	NP_940986.1	Q8N1Q1	CAH13_HUMAN	carbonic anhydrase XIII	194					one-carbon metabolic process		carbonate dehydratase activity|zinc ion binding			large_intestine(1)|lung(6)	7						ACTACTGGACATATCCTGGTT	0.403													G	86180769	A	G	86180769	2	3	580	1	0	0	0	0	0	0	0	1	2540	204	8	3		3	CA13	8	86180769	Silent	SNP	A	TCGA-HT-8104-01A-11D-2395-08	30646746	86180769	60183253	44	48836											
PARP10	84875	broad.mit.edu	37	chr8	145057683	145057683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctcttctgcctccaacgGgggctgctccagcagggaga	6	7	15	13	1	2	1	0	0	2	1	4	2	4	1	3	4	4	4	3	4	1	1	rs146697146	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr8:145057683G>A	ENST00000313028.7	-	8	2168	c.2074C>T	c.(2074-2076)Ccg>Tcg	p.P692S	PARP10_ENST00000524918.1_Missense_Mutation_p.P683S|PARP10_ENST00000525773.1_Missense_Mutation_p.P704S	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	692	Glu-rich.					Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GCCTCCAACGGGGGCTGCTCC	0.677													A	145057683	G	A	145057683	3	1	580	1	0	0	0	0	1	0	0	0	11531	1232	43	2	1019	2	PARP10	8	145057683	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	58876914	145057683	1306339	45	48837											
PGM5	5239	broad.mit.edu	37	chr9	70993121	70993121	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttggatggtttagattggaCgactgattattggacagaat	11	15	12	3	1	0	3	0	1	0	2	0	7	0	6	0	4	0	1	0	4	3	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:70993121C>T	ENST00000396396.1	+	2	497	c.268C>T	c.(268-270)Cga>Tga	p.R90*	PGM5_ENST00000604870.2_3'UTR|PGM5_ENST00000396392.1_Nonsense_Mutation_p.R90*	NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	90					cell adhesion|cellular calcium ion homeostasis|glucose metabolic process	costamere|dystrophin-associated glycoprotein complex|focal adhesion|intercalated disc|internal side of plasma membrane|sarcolemma|spot adherens junction|stress fiber|Z disc	intramolecular transferase activity, phosphotransferases|magnesium ion binding|structural molecule activity			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTAGATTGGACGACTGATTAT	0.443													T	70993121	C	T	70993121	4	4	580	1	0	0	0	0	0	1	0	0	11878	528	19	1	274	1	PGM5	9	70993121	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		70993121	70220310	46	48838											
ZBTB6	10773	broad.mit.edu	37	chr9	125674357	125674357	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agactcagcagccatgatcaCaatctaagcaaaataaaaca	20	6	5	10	0	3	2	2	1	1	1	3	2	3	2	1	0	4	2	1	0	6	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:125674357C>T	ENST00000373659.3	-	0	83					NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						GCCATGATCACAATCTAAGCA	0.373													T	125674357	C	T	125674357	1	4	580	1	0	0	0	0	0	0	0	0	17653	493	17	2		2	ZBTB6	9	125674357	Translation_Start_Site	SNP	C	TCGA-HT-8104-01A-11D-2395-08	54681236	125674357	15539074	47	48839											
GOLGA2	2801	broad.mit.edu	37	chr9	131019389	131019390	+	Frame_Shift_Ins	INS	-	-	A																															atcattctcgtcagcccggtINSaaaaaaaaggaatgcagggg																										TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr9:131019389_131019390insA	ENST00000421699.2	-	26	2977_2978	c.2965_2966insT	c.(2965-2967)tacfs	p.Y989fs	GOLGA2_ENST00000609374.1_Frame_Shift_Ins_p.Y977fs	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	989						Golgi cisterna membrane	protein binding	p.Y977fs*9(2)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						GTCAGCCCGGTAAAAAAAAGGA	0.564													A	131019390	-	A	131019389	7	5	580	1	0	1	1	0	0	0	0	0	6608	1638	57	0	46	0	GOLGA2	9	131019389	Frame_Shift_Ins	INS	-	TCGA-HT-8104-01A-11D-2395-08	5345032	131019389	10194042	48	48840											
PTEN	5728	broad.mit.edu	37	chr10	89624301	89624301	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggattcgacttagacttGacctgtatccatttctgcgg	8	14	10	9	2	1	2	0	1	1	1	3	5	2	3	2	2	1	1	2	2	2	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:89624301G>T	ENST00000371953.3	+	1	1432	c.75G>T	c.(73-75)ttG>ttT	p.L25F		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	25	Phosphatase tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.L25fs*28(1)|p.L25F(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ACTTAGACTTGACCTGTATCC	0.458		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89624301	G	T	89624301	3	4	580	1	0	0	0	0	1	0	0	0	12823	1281	45	4	77	4	PTEN	10	89624301	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		89624301	45910446	49	48841											
DMBT1	1755	broad.mit.edu	37	chr10	124345695	124345695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacagctgggacaccaatGatgccaatgtggtctgcagg	11	8	13	9	0	1	2	0	2	1	0	1	3	1	3	2	3	3	2	2	3	2	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr10:124345695G>A	ENST00000338354.3	+	16	1685	c.1579G>A	c.(1579-1581)Gat>Aat	p.D527N	DMBT1_ENST00000344338.3_Missense_Mutation_p.D517N|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.D517N|DMBT1_ENST00000368909.3_Missense_Mutation_p.D527N|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368956.2_Intron			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	527	SRCR 4.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding	p.D527Y(3)		breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGACACCAATGATGCCAATGT	0.612													A	124345695	G	A	124345695	3	1	580	1	0	0	0	0	1	0	0	0	4616	1290	45	2	1641	2	DMBT1	10	124345695	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	34721394	124345695	11189052	50	48842											
MUC6	4588	broad.mit.edu	37	chr11	1026378	1026378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccagggtaggagacccccGagaactcacatgggcactcc	10	5	11	15	1	1	2	1	0	0	2	3	4	3	2	4	3	1	2	4	3	2	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:1026378G>A	ENST00000421673.2	-	20	2545	c.2495C>T	c.(2494-2496)tCg>tTg	p.S832L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	832					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGAGACCCCCGAGAACTCACA	0.652													A	1026378	G	A	1026378	3	1	580	1	0	0	0	0	1	0	0	0	10056	1059	37	1	4880	1	MUC6	11	1026378	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1026378	133980138	51	48843											
ST3GAL4	6484	broad.mit.edu	37	chr11	126278294	126278294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaatctgcccacttcgaccCcaaagtagaaaacaacccag	15	6	6	14	1	1	2	0	1	1	1	2	3	1	2	4	0	3	1	4	0	6	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr11:126278294C>G	ENST00000526727.1	+	7	904	c.530C>G	c.(529-531)cCc>cGc	p.P177R	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.P166R|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.P172R|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.P177R|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.P183R|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.P173R|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.P176R|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.P173R|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.P177R|ST3GAL4_ENST00000526756.1_3'UTR			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	177					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CACTTCGACCCCAAAGTAGAA	0.532													G	126278294	C	G	126278294	3	3	580	1	0	0	0	0	1	0	0	0	15313	623	22	4	544	4	ST3GAL4	11	126278294	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	125251916	126278294	8728222	52	48844											
CACNA2D4	93589	broad.mit.edu	37	chr12	1995491	1995491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttcatactgccgctcacGtccaccaaaatcactatgtc	10	10	4	17	2	3	0	3	0	0	0	5	0	4	0	4	0	2	1	4	0	4	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:1995491G>A	ENST00000382722.5	-	8	1253	c.891C>T	c.(889-891)gaC>gaT	p.D297D	CACNA2D4_ENST00000587995.1_Silent_p.D297D|CACNA2D4_ENST00000585708.1_Silent_p.D233D|CACNA2D4_ENST00000588077.1_Silent_p.D233D|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000586184.1_Silent_p.D297D	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	297	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		TGCCGCTCACGTCCACCAAAA	0.488													A	1995491	G	A	1995491	2	1	580	1	0	0	0	0	0	0	0	1	2577	1136	40	1		1	CACNA2D4	12	1995491	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		1995491	131856404	53	48845											
DIP2B	57609	broad.mit.edu	37	chr12	51086786	51086786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggatgctgggctgtggcacgGcatgtttgcggtaagctact	6	11	16	8	2	0	0	0	0	0	0	0	1	0	1	0	5	4	7	0	5	2	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:51086786G>A	ENST00000301180.5	+	14	1743	c.1709G>A	c.(1708-1710)gGc>gAc	p.G570D		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	570						nucleus	catalytic activity|transcription factor binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						CTGTGGCACGGCATGTTTGCG	0.388													A	51086786	G	A	51086786	3	1	580	1	0	0	0	0	1	0	0	0	4567	1203	42	2	1763	2	DIP2B	12	51086786	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	49091295	51086786	82765109	54	48846											
TRHDE	29953	broad.mit.edu	37	chr12	72893328	72893328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagtgatgctgctggaCggtttggccagttcccatcc	7	11	12	11	1	0	2	0	2	0	0	2	3	2	3	3	3	2	4	3	3	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:72893328C>T	ENST00000261180.4	+	6	1596	c.1500C>T	c.(1498-1500)gaC>gaT	p.D500D		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	500					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding	p.D500D(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						TGCTGCTGGACGGTTTGGCCA	0.458													T	72893328	C	T	72893328	2	4	580	1	0	0	0	0	0	0	0	1	16580	535	19	1		1	TRHDE	12	72893328	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	21806542	72893328	60958567	55	48847											
SLC6A15	55117	broad.mit.edu	37	chr12	85267059	85267059	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacctaaggcaaagaacaCttgagtagcagcttctctcc	13	8	8	12	0	1	3	0	1	1	2	3	3	2	3	2	1	3	4	2	1	4	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:85267059C>A	ENST00000266682.5	-	7	1457	c.916G>T	c.(916-918)Gtg>Ttg	p.V306L	SLC6A15_ENST00000309283.7_Missense_Mutation_p.V14L|SLC6A15_ENST00000551388.1_Intron|SLC6A15_ENST00000552192.1_Missense_Mutation_p.V199L	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	306					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						GCAAAGAACACTTGAGTAGCA	0.403													A	85267059	C	A	85267059	3	1	580	1	0	0	0	0	1	0	0	0	14772	565	20	4	1300	4	SLC6A15	12	85267059	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12373731	85267059	48584836	56	48848											
WSCD2	9671	broad.mit.edu	37	chr12	108589925	108589925	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgagagagccaagcttggcGactacggtggagcctggagc	10	6	16	9	2	0	2	0	1	0	1	0	6	0	4	2	4	5	1	2	4	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr12:108589925G>A	ENST00000332082.4	+	3	1134	c.316G>A	c.(316-318)Gac>Aac	p.D106N	WSCD2_ENST00000549903.1_Missense_Mutation_p.D106N|WSCD2_ENST00000547525.1_Missense_Mutation_p.D106N|WSCD2_ENST00000261400.3_Missense_Mutation_p.D106N			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	106						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CAAGCTTGGCGACTACGGTGG	0.607													A	108589925	G	A	108589925	3	1	580	1	0	0	0	0	1	0	0	0	17509	1058	37	1	318	1	WSCD2	12	108589925	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	23322866	108589925	25261970	57	48849											
FARP1	10160	broad.mit.edu	37	chr13	99083337	99083337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcacagcgaggccttggAggccctggagaatggaatca	12	5	15	9	1	1	1	1	0	0	1	1	6	1	3	2	5	2	1	2	5	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr13:99083337A>G	ENST00000376586.2	+	18	2282	c.1946A>G	c.(1945-1947)gAg>gGg	p.E649G	FARP1_ENST00000595437.1_Missense_Mutation_p.E649G|FARP1_ENST00000319562.6_Missense_Mutation_p.E649G			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	649	DH.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			GAGGCCTTGGAGGCCCTGGAG	0.582													G	99083337	A	G	99083337	3	3	580	1	0	0	0	0	1	0	0	0	5725	304	11	3	2235	3	FARP1	13	99083337	Missense_Mutation	SNP	A	TCGA-HT-8104-01A-11D-2395-08		99083337	16086541	58	48850											
ADCY4	196883	broad.mit.edu	37	chr14	24793338	24793338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggctattctcagtcctggtCgtgtggccaccaggccagac	7	9	12	13	1	1	1	1	0	1	1	4	1	2	1	4	4	0	1	4	4	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr14:24793338C>T	ENST00000310677.4	-	17	2089	c.1976G>A	c.(1975-1977)cGa>cAa	p.R659Q	ADCY4_ENST00000396747.3_Missense_Mutation_p.R352Q|ADCY4_ENST00000554068.2_Missense_Mutation_p.R659Q|ADCY4_ENST00000418030.2_Missense_Mutation_p.R659Q	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	659					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		CAGTCCTGGTCGTGTGGCCAC	0.622													T	24793338	C	T	24793338	3	4	580	1	0	0	0	0	1	0	0	0	296	884	31	1	1297	1	ADCY4	14	24793338	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		24793338	82556202	59	48851											
PML	5371	broad.mit.edu	37	chr15	74315324	74315324	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctgcaggagcaggatagtgCctttggcgcggttcacgcgc	6	8	16	11	4	1	0	1	0	0	0	1	2	1	2	1	4	3	4	1	4	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:74315324C>A	ENST00000565898.1	+	3	842	c.758C>A	c.(757-759)gCc>gAc	p.A253D	PML_ENST00000435786.2_Missense_Mutation_p.A253D|PML_ENST00000268058.3_Missense_Mutation_p.A253D|PML_ENST00000569477.1_Missense_Mutation_p.A253D|PML_ENST00000436891.3_Missense_Mutation_p.A253D|PML_ENST00000395135.3_Missense_Mutation_p.A253D|PML_ENST00000268059.6_Missense_Mutation_p.A253D|PML_ENST00000569161.1_3'UTR|PML_ENST00000567543.1_Missense_Mutation_p.A253D|PML_ENST00000569965.1_Missense_Mutation_p.A253D|PML_ENST00000395132.2_Missense_Mutation_p.A253D|PML_ENST00000563500.1_Missense_Mutation_p.A253D|PML_ENST00000354026.6_Missense_Mutation_p.A253D|PML_ENST00000359928.4_Missense_Mutation_p.A253D|PML_ENST00000564428.1_Missense_Mutation_p.A253D			P29590	PML_HUMAN	promyelocytic leukemia	253					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CAGGATAGTGCCTTTGGCGCG	0.687			T	"RARA, PAX5"	"APL, ALL"								A	74315324	C	A	74315324	3	1	580	1	0	0	0	0	1	0	0	0	12212	739	26	4	768	4	PML	15	74315324	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		74315324	28216068	60	48852											
CYP1A2	1544	broad.mit.edu	37	chr15	75042332	75042332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcattggctccacgcccGtgctggtgctgagccgcctg	3	9	13	16	4	0	1	0	1	0	0	2	1	2	1	5	2	3	4	5	2	0	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:75042332G>A	ENST00000343932.4	+	2	316	c.253G>A	c.(253-255)Gtg>Atg	p.V85M		NM_000761.3	NP_000752.2	P05177	CP1A2_HUMAN	cytochrome P450, family 1, subfamily A, polypeptide 2	85					alkaloid metabolic process|exogenous drug catabolic process|methylation|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative deethylation|oxidative demethylation|steroid catabolic process|toxin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|caffeine oxidase activity|demethylase activity|electron carrier activity|enzyme binding|heme binding|oxygen binding			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(7)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	33					Acenocoumarol(DB01418)|Acetaminophen(DB00316)|Aciclovir(DB00787)|Alosetron(DB00969)|Aminophenazone(DB01424)|Amitriptyline(DB00321)|Anagrelide(DB00261)|Azelastine(DB00972)|Bortezomib(DB00188)|Caffeine(DB00201)|Carmustine(DB00262)|Chlordiazepoxide(DB00475)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Ciprofloxacin(DB00537)|Clomipramine(DB01242)|Clotrimazole(DB00257)|Clozapine(DB00363)|Conjugated Estrogens(DB00286)|Cyclobenzaprine(DB00924)|Dacarbazine(DB00851)|Desloratadine(DB00967)|Diazepam(DB00829)|Dibucaine(DB00527)|Diclofenac(DB00586)|Duloxetine(DB00476)|Enoxacin(DB00467)|Esomeprazole(DB00736)|Estradiol(DB00783)|Estrone(DB00655)|Fluorouracil(DB00544)|Flutamide(DB00499)|Fluvoxamine(DB00176)|Frovatriptan(DB00998)|Grepafloxacin(DB00365)|Haloperidol(DB00502)|Hesperetin(DB01094)|Imipramine(DB00458)|Ketoconazole(DB01026)|Leflunomide(DB01097)|Levobupivacaine(DB01002)|Levofloxacin(DB01137)|Lidocaine(DB00281)|Lomefloxacin(DB00978)|Melatonin(DB01065)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mirtazapine(DB00370)|Norfloxacin(DB01059)|Nortriptyline(DB00540)|Ofloxacin(DB01165)|Olanzapine(DB00334)|Ondansetron(DB00904)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Pefloxacin(DB00487)|Pimozide(DB01100)|Propafenone(DB01182)|Propranolol(DB00571)|Quinidine(DB00908)|Ramelteon(DB00980)|Ranitidine(DB00863)|Rasagiline(DB01367)|Rifampin(DB01045)|Riluzole(DB00740)|Rofecoxib(DB00533)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Tacrine(DB00382)|Telithromycin(DB00976)|Terfenadine(DB00342)|Theophylline(DB00277)|Thiabendazole(DB00730)|Tizanidine(DB00697)|Tolbutamide(DB01124)|Verapamil(DB00661)|Warfarin(DB00682)|Zileuton(DB00744)|Zolmitriptan(DB00315)	CTCCACGCCCGTGCTGGTGCT	0.667													A	75042332	G	A	75042332	3	1	580	1	0	0	0	0	1	0	0	0	4183	1145	40	1	255	1	CYP1A2	15	75042332	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	727008	75042332	27489060	61	48853											
IREB2	3658	broad.mit.edu	37	chr15	78778046	78778046	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgtttgttggctgtgcaGgtcttttggctaaaaaggct	7	16	12	6	0	1	0	0	0	1	0	1	0	1	0	0	4	1	6	0	4	3	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:78778046G>A	ENST00000258886.8	+	13	1722		c.e13-1			NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2								4 iron, 4 sulfur cluster binding|metal ion binding|protein binding			central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		TGGCTGTGCAGGTCTTTTGGC	0.363													A	78778046	G	A	78778046	5	1	580	1	0	0	0	0	0	0	1	0	7884	1014	35	2	1623	2	IREB2	15	78778046	Splice_Site	SNP	G	TCGA-HT-8104-01A-11D-2395-08	3735714	78778046	23753346	62	48854											
ASB7	140460	broad.mit.edu	37	chr15	101170214	101170214	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taagtatttctggaagtagtCgaccatgtttggatttctta	10	17	9	5	1	2	0	0	0	2	0	3	3	2	2	1	2	0	3	1	2	5	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr15:101170214C>T	ENST00000332783.7	+	5	1569	c.784C>T	c.(784-786)Cga>Tga	p.R262*	ASB7_ENST00000343276.4_Nonsense_Mutation_p.R262*|ASB7_ENST00000558747.1_Intron	NM_198243.2	NP_937886.1	Q9H672	ASB7_HUMAN	ankyrin repeat and SOCS box containing 7	262					intracellular signal transduction					breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)	16	Lung NSC(78;0.00121)|all_lung(78;0.00152)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.00168)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)			TGGAAGTAGTCGACCATGTTT	0.358													T	101170214	C	T	101170214	4	4	580	1	0	0	0	0	0	1	0	0	1033	876	31	1	790	1	ASB7	15	101170214	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	22392168	101170214	1361178	63	48855											
IFT140	9742	broad.mit.edu	37	chr16	1568282	1568282	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagacgtccccgatgcggaTggtgctgtccaggtctggtt	6	11	14	10	3	1	1	0	0	1	1	3	3	3	2	3	4	2	2	3	4	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:1568282T>C	ENST00000426508.2	-	30	4480	c.4117A>G	c.(4117-4119)Atc>Gtc	p.I1373V	IFT140_ENST00000361339.5_Missense_Mutation_p.I567V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1373										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				CCGATGCGGATGGTGCTGTCC	0.602													C	1568282	T	C	1568282	3	2	580	1	0	0	0	0	1	0	0	0	7614	1464	51	3	279	3	IFT140	16	1568282	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08		1568282	88786471	64	48856											
DNAH3	55567	broad.mit.edu	37	chr16	21049263	21049263	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgagaggacagttgttcCgagcacaggcggtaggtcgc	8	8	16	9	3	0	1	0	1	0	1	2	4	1	2	1	4	2	5	1	4	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:21049263C>T	ENST00000261383.3	-	34	4769	c.4770G>A	c.(4768-4770)tcG>tcA	p.S1590S	DNAH3_ENST00000415178.1_Silent_p.S1590S	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1590	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ACAGTTGTTCCGAGCACAGGC	0.547													T	21049263	C	T	21049263	2	4	580	1	0	0	0	0	0	0	0	1	4642	639	23	1		1	DNAH3	16	21049263	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	19480981	21049263	69305490	65	48857											
HIRIP3	8479	broad.mit.edu	37	chr16	30006762	30006762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgagctaagtacctccgccGcacgatggaatgcgtaagcg	10	7	13	11	5	0	1	0	1	0	0	1	3	1	2	3	1	4	4	3	1	4	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:30006762G>A	ENST00000279392.3	-	2	918	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	INO80E_ENST00000563197.1_5'UTR|HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.R30W	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	30					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TACCTCCGCCGCACGATGGAA	0.652													A	30006762	G	A	30006762	3	1	580	1	0	0	0	0	1	0	0	0	7176	1086	38	1	1606	1	HIRIP3	16	30006762	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	8957499	30006762	60347991	66	48858											
AMFR	267	broad.mit.edu	37	chr16	56396893	56396893	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcgacgcagggtcacgggGtcagaggacgcaccttccga	8	6	14	13	5	2	1	2	0	0	1	4	4	3	2	2	4	0	2	2	4	0	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr16:56396893G>A	ENST00000290649.5	-	14	2070	c.1860C>T	c.(1858-1860)gaC>gaT	p.D620D		NM_001144.5	NP_001135.3	Q9UKV5	AMFR2_HUMAN	autocrine motility factor receptor, E3 ubiquitin protein ligase	620					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|protein oligomerization|protein polyubiquitination	integral to endoplasmic reticulum membrane|integral to membrane of membrane fraction	protein binding|receptor activity|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17						GGGTCACGGGGTCAGAGGACG	0.567													A	56396893	G	A	56396893	2	1	580	1	0	0	0	0	0	0	0	1	571	1252	44	2		2	AMFR	16	56396893	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08	26390131	56396893	33957860	67	48859											
MYH13	8735	broad.mit.edu	37	chr17	10223518	10223518	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaactgtggacttgttcGtcatctattttggcttgtaa	8	17	9	7	1	2	0	1	0	1	0	3	1	2	1	0	2	2	4	0	2	3	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10223518G>A	ENST00000418404.3	-	25	3463	c.3300C>T	c.(3298-3300)gaC>gaT	p.D1100D	MYH13_ENST00000252172.4_Silent_p.D1100D			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1100					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GGACTTGTTCGTCATCTATTT	0.388													A	10223518	G	A	10223518	2	1	580	1	0	0	0	0	0	0	0	1	10108	1136	40	1		1	MYH13	17	10223518	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		10223518	70971692	68	48860											
MYH13	8735	broad.mit.edu	37	chr17	10248554	10248554	+	Frame_Shift_Del	DEL	T	T	-																															gatgcaggcagccaggtccaTtccgaagtcaatgaactccc																										TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:10248554delT	ENST00000418404.3	-	14	1712	c.1549delA	c.(1549-1551)atgfs	p.M517fs	MYH13_ENST00000252172.4_Frame_Shift_Del_p.M517fs			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	517	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						GCCAGGTCCATTCCGAAGTCA	0.522													-	10248554	T	-	10248554	7	5	580	1	0	1	0	1	0	0	0	0	10108	1493	52	0	4375	0	MYH13	17	10248554	Frame_Shift_Del	DEL	T	TCGA-HT-8104-01A-11D-2395-08	25036	10248554	70946656	69	48861											
SUZ12	23512	broad.mit.edu	37	chr17	30303572	30303572	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttccagccagaagaaaaCgaaatcgtgaggatggggaa	16	5	13	7	2	0	3	0	1	0	2	2	6	1	5	2	3	3	1	2	3	5	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:30303572C>T	ENST00000322652.5	+	8	1085	c.856C>T	c.(856-858)Cga>Tga	p.R286*	SUZ12_ENST00000580398.1_Nonsense_Mutation_p.R263*	NM_015355.2	NP_056170.2	Q15022	SUZ12_HUMAN	SUZ12 polycomb repressive complex 2 subunit	286					negative regulation of cell differentiation|transcription, DNA-dependent	ESC/E(Z) complex	histone methyltransferase activity|methylated histone residue binding|zinc ion binding	p.R286*(1)	SSH2/SUZ12(2)|JAZF1/SUZ12(133)	breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(4)|lung(5)|skin(1)	21		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.041)|Ovarian(249;0.182)|Breast(31;0.231)				CAGAAGAAAACGAAATCGTGA	0.343			T	JAZF1	endometrial stromal tumours								T	30303572	C	T	30303572	4	4	580	1	0	0	0	0	0	1	0	0	15512	528	19	1	886	1	SUZ12	17	30303572	Nonsense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	20055018	30303572	50891638	70	48862											
KRT16	3868	broad.mit.edu	37	chr17	39768742	39768742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagccaccgccatagcCgccccccagcccgcaggctc	7	3	10	21	3	0	1	0	1	0	0	1	1	0	1	8	1	3	3	8	1	2	1	rs62066634	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr17:39768742C>T	ENST00000301653.4	-	1	263	c.199G>A	c.(199-201)Ggc>Agc	p.G67S		NM_005557.3	NP_005548.2	P08779	K1C16_HUMAN	keratin 16	67	Head.				cell proliferation|epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	23		Breast(137;0.000307)				CCGCCATAGCCGCCCCCCAGC	0.692													T	39768742	C	T	39768742	3	4	580	1	0	0	0	0	1	0	0	0	8511	652	23	1	1254	1	KRT16	17	39768742	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	9465170	39768742	41426468	71	48863											
ARHGAP28	79822	broad.mit.edu	37	chr18	6873483	6873483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagacatgaagaaaatcCgccatctctctctgattgaa	14	10	7	10	1	2	6	0	4	2	2	5	6	3	6	2	0	0	0	2	0	5	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:6873483C>T	ENST00000419673.2	+	7	770	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ARHGAP28_ENST00000314319.3_Missense_Mutation_p.R185C|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.R167C|RP11-146G7.2_ENST00000583659.1_RNA|ARHGAP28_ENST00000383472.4_Missense_Mutation_p.R344C|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.R185C|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.R180C|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.R344C|ARHGAP28_ENST00000262227.3_Missense_Mutation_p.R292C	NM_001010000.2	NP_001010000.1	B4DXL2	B4DXL2_HUMAN	Rho GTPase activating protein 28	167					signal transduction	intracellular				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				GAAGAAAATCCGCCATCTCTC	0.368													T	6873483	C	T	6873483	3	4	580	1	0	0	0	0	1	0	0	0	880	652	23	1	575	1	ARHGAP28	18	6873483	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		6873483	71203765	72	48864											
GATA6	2627	broad.mit.edu	37	chr18	19751314	19751314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcgacacggaggcggCggccggacccccggcccgct	5	3	15	18	7	1	0	1	0	0	0	2	3	1	2	4	6	1	2	4	6	0	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:19751314C>A	ENST00000269216.3	+	2	486	c.209C>A	c.(208-210)gCg>gAg	p.A70E	GATA6_ENST00000581694.1_Missense_Mutation_p.A70E	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	70					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			ACGGAGGCGGCGGCCGGACCC	0.761													A	19751314	C	A	19751314	3	1	580	1	0	0	0	0	1	0	0	0	6312	768	27	4	211	4	GATA6	18	19751314	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	12877831	19751314	58325934	73	48865											
DSG2	1829	broad.mit.edu	37	chr18	29126335	29126335	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaagagtaatacagcctcatGggggtggatcgaatcctctg	12	9	12	8	1	2	1	1	0	1	1	4	3	3	2	2	3	2	1	2	3	4	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr18:29126335G>T	ENST00000261590.8	+	15	3195	c.2986G>T	c.(2986-2988)Ggg>Tgg	p.G996W	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	996					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACAGCCTCATGGGGGTGGATC	0.498													T	29126335	G	T	29126335	3	4	580	1	0	0	0	0	1	0	0	0	4816	1348	47	4	3044	4	DSG2	18	29126335	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	9375021	29126335	48950913	74	48866											
MKNK2	2872	broad.mit.edu	37	chr19	2043519	2043519	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tacctgtgtccctggcactgGtacagcatctccacctccct	6	11	7	17	0	1	0	0	0	1	0	4	0	3	0	5	2	3	3	5	2	2	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:2043519G>A	ENST00000250896.3	-	6	646	c.402C>T	c.(400-402)taC>taT	p.Y134Y	MKNK2_ENST00000309340.7_Silent_p.Y134Y|MKNK2_ENST00000541165.1_Silent_p.Y3Y|MKNK2_ENST00000591601.1_Silent_p.Y134Y	NM_199054.2	NP_951009.1	Q9HBH9	MKNK2_HUMAN	MAP kinase interacting serine/threonine kinase 2	134	Protein kinase.				cell surface receptor linked signaling pathway|intracellular protein kinase cascade|regulation of translation		ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(3)|large_intestine(3)|lung(3)	10		Ovarian(11;2.11e-07)|Hepatocellular(1079;0.137)		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)		CCTGGCACTGGTACAGCATCT	0.587													A	2043519	G	A	2043519	2	1	580	1	0	0	0	0	0	0	0	1	9680	1256	44	2		2	MKNK2	19	2043519	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		2043519	57085464	75	48867											
RNASEH2A	10535	broad.mit.edu	37	chr19	12920991	12920991	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcagatgccctctaccCggtggttagtgctgccagca	9	8	11	13	1	1	1	0	0	1	1	1	1	1	1	3	2	6	4	3	2	3	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:12920991C>T	ENST00000221486.4	+	5	612	c.518C>T	c.(517-519)cCg>cTg	p.P173L		NM_006397.2	NP_006388.2	O75792	RNH2A_HUMAN	ribonuclease H2, subunit A	173					DNA replication|RNA catabolic process	nucleus|ribonuclease H2 complex	metal ion binding|ribonuclease H activity|RNA binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	14						GCCCTCTACCCGGTGGTTAGT	0.582													T	12920991	C	T	12920991	3	4	580	1	0	0	0	0	1	0	0	0	13503	652	23	1	536	1	RNASEH2A	19	12920991	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	10877472	12920991	46207992	76	48868											
CYP2S1	29785	broad.mit.edu	37	chr19	41703792	41703792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgaggagctgatccaggCggaggcccggtgtctggtgg	6	6	20	9	3	1	1	0	1	1	0	2	4	2	3	2	8	1	1	2	8	0	0	rs148695011		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:41703792C>T	ENST00000310054.4	+	3	668	c.452C>T	c.(451-453)gCg>gTg	p.A151V	CYP2S1_ENST00000542619.1_Intron	NM_030622.6	NP_085125.1	Q96SQ9	CP2S1_HUMAN	cytochrome P450, family 2, subfamily S, polypeptide 1	151					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity			breast(1)|endometrium(3)|large_intestine(3)|lung(5)|skin(2)	14						CTGATCCAGGCGGAGGCCCGG	0.622													T	41703792	C	T	41703792	3	4	580	1	0	0	0	0	1	0	0	0	4207	768	27	1	462	1	CYP2S1	19	41703792	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	28782801	41703792	17425191	77	48869											
ZNF665	79788	broad.mit.edu	37	chr19	53668011	53668011	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttgaatgtacactaaatgCtttgccgcactcattacact	11	14	6	10	1	1	1	1	1	0	0	1	1	1	1	1	0	4	4	1	0	5	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:53668011C>G	ENST00000600412.1	-	2	1652	c.1537G>C	c.(1537-1539)Gca>Cca	p.A513P	ZNF665_ENST00000396424.3_Missense_Mutation_p.A578P			Q9H7R5	ZN665_HUMAN	zinc finger protein 665	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	35				GBM - Glioblastoma multiforme(134;0.0196)		ACACTAAATGCTTTGCCGCAC	0.398													G	53668011	C	G	53668011	3	3	580	1	0	0	0	0	1	0	0	0	18174	797	28	4	308	4	ZNF665	19	53668011	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	11964219	53668011	5460972	78	48870											
NLRP11	204801	broad.mit.edu	37	chr19	56320376	56320376	+	Missense_Mutation	SNP	G	G	T																															cgtcaacttttccgggtcacGgtccaaatgtttcatgtatc																								rs115243845	by1000genomes	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320376G>T	ENST00000443188.1	-	5	2310	c.1600C>A	c.(1600-1602)Cgt>Agt	p.R534S	NLRP11_ENST00000589824.2_Missense_Mutation_p.R534S|NLRP11_ENST00000360133.3_Missense_Mutation_p.R534S|NLRP11_ENST00000589093.1_Missense_Mutation_p.R534S|NLRP11_ENST00000592953.1_Missense_Mutation_p.R435S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	534							ATP binding	p.R534C(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		TCCGGGTCACGGTCCAAATGT	0.448													T	56320376	G	T	56320376	3	4	580	1	0	0	0	0	1	0	0	0	10549	1116	39	4	1533	4	NLRP11	19	56320376	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	2652365	56320376	2808607	79	48871	158	2									
NLRP11	204801	broad.mit.edu	37	chr19	56320377	56320377	+	Missense_Mutation	SNP	G	G	T																															gtcaacttttccgggtcacgGtccaaatgtttcatgtatcc																										TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56320377G>T	ENST00000443188.1	-	5	2309	c.1599C>A	c.(1597-1599)gaC>gaA	p.D533E	NLRP11_ENST00000589824.2_Missense_Mutation_p.D533E|NLRP11_ENST00000360133.3_Missense_Mutation_p.D533E|NLRP11_ENST00000589093.1_Missense_Mutation_p.D533E|NLRP11_ENST00000592953.1_Missense_Mutation_p.D434E	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	533							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCGGGTCACGGTCCAAATGTT	0.448													T	56320377	G	T	56320377	3	4	580	1	0	0	0	0	1	0	0	0	10549	1252	44	4	1534	4	NLRP11	19	56320377	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1	56320377	2808606	80	48872	158	2									
NLRP11	204801	broad.mit.edu	37	chr19	56321356	56321356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagcctggccgtcaggcCagtccttggcgattagctca	6	9	14	12	2	2	0	2	0	0	0	3	2	3	1	4	4	2	1	4	4	1	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:56321356C>G	ENST00000443188.1	-	5	1330	c.620G>C	c.(619-621)tGg>tCg	p.W207S	NLRP11_ENST00000589824.2_Missense_Mutation_p.W207S|NLRP11_ENST00000360133.3_Missense_Mutation_p.W207S|NLRP11_ENST00000589093.1_Missense_Mutation_p.W207S|NLRP11_ENST00000592953.1_Missense_Mutation_p.W108S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	207	NACHT.						ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		GCCGTCAGGCCAGTCCTTGGC	0.498													G	56321356	C	G	56321356	3	3	580	1	0	0	0	0	1	0	0	0	10549	595	21	4	2513	4	NLRP11	19	56321356	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	979	56321356	2807627	81	48873											
ZNF551	90233	broad.mit.edu	37	chr19	58199100	58199100	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgagaaatcctttagccGcaaatttatcctgattcaac	13	13	6	9	1	1	2	1	2	0	1	3	3	3	2	3	0	2	1	3	0	5	5	rs138423649		TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr19:58199100G>A	ENST00000282296.5	+	3	1642	c.1457G>A	c.(1456-1458)cGc>cAc	p.R486H	AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.R470H			Q7Z340	ZN551_HUMAN	zinc finger protein 551	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TCCTTTAGCCGCAAATTTATC	0.423													A	58199100	G	A	58199100	3	1	580	1	0	0	0	0	1	0	0	0	18084	1087	38	1	1419	1	ZNF551	19	58199100	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1877744	58199100	929883	82	48874											
AHCY	191	broad.mit.edu	37	chr20	32873405	32873405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgaccctcggccagcaggatGatgcggcgcccattcttcaa	8	7	11	15	4	2	1	1	1	1	0	3	3	2	2	3	3	2	1	3	3	1	2	rs139344907	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr20:32873405G>A	ENST00000538132.1	-	9	1310	c.924C>T	c.(922-924)atC>atT	p.I308I	CTD-3216D2.5_ENST00000609218.1_RNA|AHCY_ENST00000217426.2_Silent_p.I336I	NM_001161766.1	NP_001155238.1	P23526	SAHH_HUMAN	adenosylhomocysteinase	336					methylation|xenobiotic metabolic process	cytosol|melanosome	adenosylhomocysteinase activity|protein binding			endometrium(6)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CCAGCAGGATGATGCGGCGCC	0.632													A	32873405	G	A	32873405	2	1	580	1	0	0	0	0	0	0	0	1	409	1280	45	2		2	AHCY	20	32873405	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		32873405	30152115	83	48875											
RIPK4	54101	broad.mit.edu	37	chr21	43161012	43161012	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccagctaggtcttgcttcGccgcaggagcgtggcggcgg	5	7	17	12	5	1	0	0	0	1	0	2	1	1	1	2	5	4	3	2	5	1	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:43161012G>A	ENST00000352483.2	-	9	2549	c.2485C>T	c.(2485-2487)Cga>Tga	p.R829*	RIPK4_ENST00000542057.1_Nonsense_Mutation_p.R718*|RIPK4_ENST00000332512.3_Nonsense_Mutation_p.R781*|RIPK4_ENST00000544709.1_Nonsense_Mutation_p.R718*|AP001615.9_ENST00000423276.1_RNA			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	781						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTCTTGCTTCGCCGCAGGAGC	0.672													A	43161012	G	A	43161012	4	1	580	1	0	0	0	0	0	1	0	0	13474	1095	38	1	17	1	RIPK4	21	43161012	Nonsense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08		43161012	4968883	84	48876											
TRPM2	7226	broad.mit.edu	37	chr21	45846577	45846577	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacccacccttttacaCggcagagaggaaggacgcgg	11	6	12	12	3	0	2	0	1	0	1	0	5	0	4	2	4	1	1	2	4	3	3	rs113563173	byFrequency	TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr21:45846577C>T	ENST00000397928.1	+	26	4275	c.3830C>T	c.(3829-3831)aCg>aTg	p.T1277M	TRPM2_ENST00000300482.5_Missense_Mutation_p.T1277M|TRPM2_ENST00000300481.9_Missense_Mutation_p.T1257M|TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000397932.2_Missense_Mutation_p.T1327M	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1277						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	p.T1277M(1)		breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCCTTTTACACGGCAGAGAGG	0.602													T	45846577	C	T	45846577	3	4	580	1	0	0	0	0	1	0	0	0	16687	536	19	1	3932	1	TRPM2	21	45846577	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08	2685565	45846577	2283318	85	48877											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620063	41620063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccctttaggcagggcatgCggctggaagtggtggacaag	9	7	16	9	1	0	0	0	0	0	0	0	2	0	2	2	6	1	3	2	6	3	2			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:41620063C>T	ENST00000216237.5	+	9	1140	c.982C>T	c.(982-984)Cgg>Tgg	p.R328W		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	328					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						GCAGGGCATGCGGCTGGAAGT	0.597													T	41620063	C	T	41620063	3	4	580	1	0	0	0	0	1	0	0	0	8651	759	27	1	1016	1	L3MBTL2	22	41620063	Missense_Mutation	SNP	C	TCGA-HT-8104-01A-11D-2395-08		41620063	9684503	86	48878											
TUBGCP6	85378	broad.mit.edu	37	chr22	50656813	50656813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacggaactgcacagagccgGccatgtggctcagcagggct	9	5	15	12	2	1	1	1	0	0	1	1	3	1	2	2	4	4	4	2	4	1	0			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chr22:50656813G>A	ENST00000248846.5	-	23	5077	c.4973C>T	c.(4972-4974)gCc>gTc	p.A1658V	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000439308.2_3'UTR			Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1658					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CACAGAGCCGGCCATGTGGCT	0.662													A	50656813	G	A	50656813	3	1	580	1	0	0	0	0	1	0	0	0	16872	1203	42	2	498	2	TUBGCP6	22	50656813	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	9036750	50656813	647753	87	48879											
APEX2	27301	broad.mit.edu	37	chrX	55033742	55033742	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacagggagccatgtgtGatgcgtactgtgaagaagcc	10	7	15	9	1	0	3	0	2	0	1	0	4	0	4	3	2	4	1	3	2	3	1			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:55033742G>T	ENST00000374987.3	+	6	1497	c.1431G>T	c.(1429-1431)gtG>gtT	p.V477V		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	477					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						AGCCATGTGTGATGCGTACTG	0.622								Other BER factors					T	55033742	G	T	55033742	2	4	580	1	0	0	0	0	0	0	0	1	772	1277	45	4		4	APEX2	23	55033742	Silent	SNP	G	TCGA-HT-8104-01A-11D-2395-08		55033742	100236818	88	48880											
ZMYM3	9203	broad.mit.edu	37	chrX	70464671	70464671	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcggggaaggtcttgttcaGtagacacatcctcaggccct	8	11	11	11	1	3	1	2	0	1	1	5	2	4	2	2	4	0	2	2	4	2	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:70464671G>C	ENST00000373998.1	-	19	3741	c.3044C>G	c.(3043-3045)aCt>aGt	p.T1015S	ZMYM3_ENST00000353904.2_Missense_Mutation_p.T1027S|ZMYM3_ENST00000373988.1_Missense_Mutation_p.T1029S|ZMYM3_ENST00000373984.3_Missense_Mutation_p.T1029S|ZMYM3_ENST00000314425.5_Missense_Mutation_p.T1027S|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1027					multicellular organismal development	nucleus	DNA binding|zinc ion binding	p.T1027fs*9(1)		breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GTCTTGTTCAGTAGACACATC	0.478													C	70464671	G	C	70464671	3	2	580	1	0	0	0	0	1	0	0	0	17802	1029	36	4	1060	4	ZMYM3	23	70464671	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	15430929	70464671	84805889	89	48881											
RPS4X	6191	broad.mit.edu	37	chrX	71493768	71493768	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcatcatgagtcaccaGatgagggattccttttgtgc	8	11	13	9	1	2	3	2	2	0	1	3	4	3	4	2	2	1	1	2	2	0	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:71493768G>T	ENST00000316084.6	-	5	519	c.415C>A	c.(415-417)Ctg>Atg	p.L139M	RPS4X_ENST00000486733.1_5'UTR	NM_001007.4	NP_000998.1	P62701	RS4X_HUMAN	ribosomal protein S4, X-linked	139					endocrine pancreas development|positive regulation of cell proliferation|positive regulation of translation|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|polysome	rRNA binding|structural constituent of ribosome			NS(1)|large_intestine(1)	2	Renal(35;0.156)					TGAGTCACCAGATGAGGGATT	0.438													T	71493768	G	T	71493768	3	4	580	1	0	0	0	0	1	0	0	0	13736	933	33	4	388	4	RPS4X	23	71493768	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	1029097	71493768	83776792	90	48882											
CYLC1	1538	broad.mit.edu	37	chrX	83129576	83129576	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccttctctaccatcaccaaaGgtcagacgtctttgttggtg	8	13	8	12	1	4	1	2	0	2	1	5	1	4	1	3	2	1	1	3	2	2	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:83129576G>T	ENST00000329312.4	+	4	1897	c.1860G>T	c.(1858-1860)aaG>aaT	p.K620N		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	620	Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						CATCACCAAAGGTCAGACGTC	0.433													T	83129576	G	T	83129576	3	4	580	1	0	0	0	0	1	0	0	0	4174	991	35	4	1874	4	CYLC1	23	83129576	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	11635808	83129576	72140984	91	48883											
CPXCR1	53336	broad.mit.edu	37	chrX	88009269	88009269	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcccatctgtggaaggctttTtaacacttactctgaattaa	11	15	6	9	0	2	1	0	1	2	0	3	2	3	2	1	2	2	1	1	2	5	5			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:88009269T>A	ENST00000276127.4	+	3	1113	c.854T>A	c.(853-855)tTt>tAt	p.F285Y	CPXCR1_ENST00000373111.1_Missense_Mutation_p.F285Y	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	285						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						GGAAGGCTTTTTAACACTTAC	0.303													A	88009269	T	A	88009269	3	1	580	1	0	0	0	0	1	0	0	0	3867	1841	64	5	856	5	CPXCR1	23	88009269	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	4879693	88009269	67261291	92	48884											
NKRF	55922	broad.mit.edu	37	chrX	118724016	118724016	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcggttaaactgagctgTgtcgttcagcgtgcacacgg	8	11	12	10	4	1	1	1	1	0	0	3	1	1	1	0	2	4	4	0	2	2	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:118724016T>C	ENST00000371527.1	-	2	2024	c.1372A>G	c.(1372-1374)Aca>Gca	p.T458A	NKRF_ENST00000542113.1_Missense_Mutation_p.T473A|NKRF_ENST00000487600.1_Intron|NKRF_ENST00000304449.5_Missense_Mutation_p.T458A	NM_001173488.1	NP_001166959.1	O15226	NKRF_HUMAN	NFKB repressing factor	458					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|double-stranded RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(1)|urinary_tract(1)	30						AACTGAGCTGTGTCGTTCAGC	0.428													C	118724016	T	C	118724016	3	2	580	1	0	0	0	0	1	0	0	0	10523	1696	59	3	704	3	NKRF	23	118724016	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	30714747	118724016	36546544	93	48885											
BCORL1	63035	broad.mit.edu	37	chrX	129147463	129147463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccattcagggcttgttccaGtccaagttgccacttcggtt	6	13	9	13	1	1	0	1	0	0	0	4	0	3	0	4	2	1	4	4	2	1	6			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129147463G>A	ENST00000540052.1	+	3	759	c.715G>A	c.(715-717)Gtc>Atc	p.V239I	BCORL1_ENST00000218147.7_Missense_Mutation_p.V239I|BCORL1_ENST00000359304.2_Missense_Mutation_p.V239I|BCORL1_ENST00000303743.5_Missense_Mutation_p.V239I	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	239	Pro-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						GCTTGTTCCAGTCCAAGTTGC	0.637													A	129147463	G	A	129147463	3	1	580	1	0	0	0	0	1	0	0	0	1392	1029	36	2	725	2	BCORL1	23	129147463	Missense_Mutation	SNP	G	TCGA-HT-8104-01A-11D-2395-08	10423447	129147463	26123097	94	48886											
SLC25A14	9016	broad.mit.edu	37	chrX	129498601	129498601	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgtcacttgtgtttcgtaGggtgtggttccaactgctca	7	15	11	8	1	2	0	2	0	0	0	4	0	3	0	1	2	2	4	1	2	3	4			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:129498601G>A	ENST00000543953.1	+	7	538		c.e7-1		SLC25A14_ENST00000218197.5_Splice_Site|SLC25A14_ENST00000361980.5_Splice_Site|SLC25A14_ENST00000339231.3_Splice_Site|SLC25A14_ENST00000545805.1_Splice_Site|SLC25A14_ENST00000467496.1_Splice_Site			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14						aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						GTGTTTCGTAGGGTGTGGTTC	0.408													A	129498601	G	A	129498601	5	1	580	1	0	0	0	0	0	0	1	0	14570	1014	35	2	620	2	SLC25A14	23	129498601	Splice_Site	SNP	G	TCGA-HT-8104-01A-11D-2395-08	351138	129498601	25771959	95	48887											
IGSF1	3547	broad.mit.edu	37	chrX	130413285	130413285	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actatgaagagcatggtgacCccttgagctgttcccagcaa	11	9	10	11	0	0	4	0	3	0	1	1	4	1	4	3	1	3	4	3	1	3	3			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130413285C>T	ENST00000370904.1	-	16	2560	c.1650G>A	c.(1648-1650)ggG>ggA	p.G550G	IGSF1_ENST00000370903.3_Silent_p.G559G|IGSF1_ENST00000370910.1_Silent_p.G550G|IGSF1_ENST00000361420.3_Silent_p.G559G			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	559					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GCATGGTGACCCCTTGAGCTG	0.617													T	130413285	C	T	130413285	2	4	580	1	0	0	0	0	0	0	0	1	7654	610	22	2		2	IGSF1	23	130413285	Silent	SNP	C	TCGA-HT-8104-01A-11D-2395-08	914684	130413285	24857275	96	48888											
IGSF1	3547	broad.mit.edu	37	chrX	130415782	130415782	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccgtttactgagaatttTtggaatgtttctctttcttc	6	21	6	8	1	3	1	0	1	3	1	6	3	3	2	1	1	1	2	1	1	3	7			TCGA-HT-8104-01A-11D-2395-08	TCGA-HT-8104-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42c28a52-8073-48ea-9d4b-48ecea6c5c22	e3c0bcc6-7cb4-47f8-ade2-ac60e960ca09	g.chrX:130415782T>G	ENST00000370904.1	-	14	2266	c.1356A>C	c.(1354-1356)caA>caC	p.Q452H	IGSF1_ENST00000370903.3_Missense_Mutation_p.Q461H|IGSF1_ENST00000370910.1_Missense_Mutation_p.Q452H|IGSF1_ENST00000361420.3_Missense_Mutation_p.Q461H			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	461	Ig-like C2-type 5.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CTGAGAATTTTTGGAATGTTT	0.453													G	130415782	T	G	130415782	3	3	580	1	0	0	0	0	1	0	0	0	7654	1838	64	5	2694	5	IGSF1	23	130415782	Missense_Mutation	SNP	T	TCGA-HT-8104-01A-11D-2395-08	2497	130415782	24854778	97	48889											
AADACL4	343066	broad.mit.edu	37	chr1	12726312	12726312	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccattgacctctcctggCgtgacgccatcttgaacggc	6	10	11	14	3	2	3	0	3	2	0	3	3	2	3	4	3	1	0	4	3	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:12726312C>T	ENST00000376221.1	+	4	790	c.790C>T	c.(790-792)Cgt>Tgt	p.R264C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	264						integral to membrane	carboxylesterase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		CCTCTCCTGGCGTGACGCCAT	0.502													T	12726312	C	T	12726312	3	4	581	1	0	0	0	0	1	0	0	0	13	768	27	1	804	1	AADACL4	1	12726312	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		12726312	236524309	1	48890											
ANGPTL3	27329	broad.mit.edu	37	chr1	63063515	63063517	+	In_Frame_Del	DEL	AAG	AAG	-																															gctgcaaaccagtgaaatcaAagaagaagaaaaggaactga																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:63063515_63063517delAAG	ENST00000371129.3	+	1	358_360	c.278_280delAAG	c.(277-282)aaagaa>aaa	p.E96del	DOCK7_ENST00000404627.2_Intron|DOCK7_ENST00000340370.5_Intron|DOCK7_ENST00000251157.5_Intron	NM_014495.2	NP_055310.1	Q9Y5C1	ANGL3_HUMAN	angiopoietin-like 3	96					acylglycerol homeostasis|artery morphogenesis|cell-matrix adhesion|cholesterol homeostasis|cholesterol metabolic process|fatty acid metabolic process|glycerol metabolic process|integrin-mediated signaling pathway|lipid storage|negative regulation of lipoprotein lipase activity|negative regulation of phospholipase activity|phospholipid catabolic process|phospholipid homeostasis|positive regulation of angiogenesis|positive regulation of cell migration|positive regulation of lipid catabolic process|triglyceride homeostasis	extracellular space	cell surface binding|growth factor activity|integrin binding|phospholipase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(3)|urinary_tract(1)	13						AGTGAAATCAAAGAAGAAGAAAA	0.325													-	63063517	AAG	-	63063515	7	5	581	1	0	1	0	1	0	0	0	0	615	14	1	0	280	0	ANGPTL3	1	63063515	In_Frame_Del	DEL	AAG	TCGA-HT-8105-01A-11D-2395-08	50337203	63063515	186187106	2	48891											
FUBP1	8880	broad.mit.edu	37	chr1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-																															ctcacaccaatcttttcttcTatgagttgccgagcatagtc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:78428470_78428471delTA	ENST00000370767.1	-	14	1415_1416	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma								-	78428471	TA	-	78428470	7	5	581	1	0	1	0	1	0	0	0	0	6144	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-HT-8105-01A-11D-2395-08	15364955	78428470	170822151	3	48892											
HSD3B2	3284	broad.mit.edu	37	chr1	119965057	119965057	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccaatttactcctatcaAccccccttcaaccgccacac	11	8	2	20	1	2	0	2	0	0	0	3	0	3	0	7	0	4	0	7	0	5	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:119965057A>C	ENST00000543831.1	+	4	1182	c.933A>C	c.(931-933)caA>caC	p.Q311H	HSD3B2_ENST00000369416.3_Missense_Mutation_p.Q311H	NM_001166120.1	NP_001159592.1	P26439	3BHS2_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2	311					androgen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(19)|ovary(2)|skin(1)	27	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.015)|LUSC - Lung squamous cell carcinoma(189;0.0836)	NADH(DB00157)|Trilostane(DB01108)	ACTCCTATCAACCCCCCTTCA	0.483													C	119965057	A	C	119965057	3	2	581	1	0	0	0	0	1	0	0	0	7446	40	2	5	943	5	HSD3B2	1	119965057	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	41536587	119965057	129285564	4	48893											
FLG	2312	broad.mit.edu	37	chr1	152280704	152280704	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaccagtgagtgtctagAgctgtcggcccaagaggaag	10	6	14	11	1	1	3	0	1	1	2	2	4	1	4	3	2	1	1	3	2	3	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:152280704A>G	ENST00000368799.1	-	3	6693	c.6658T>C	c.(6658-6660)Tct>Cct	p.S2220P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2220	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGTGTCTAGAGCTGTCGGCC	0.552									Ichthyosis				G	152280704	A	G	152280704	3	3	581	1	0	0	0	0	1	0	0	0	5971	304	11	3	5531	3	FLG	1	152280704	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	32315647	152280704	96969917	5	48894											
SCYL3	57147	broad.mit.edu	37	chr1	169845143	169845146	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ggtgtggcctgagaaactttAcaaacagtttccattcctcc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:169845143_169845146delACAA	ENST00000367771.6	-	4	652_655	c.438_441delTTGT	c.(436-441)gtttgtfs	p.VC146fs	SCYL3_ENST00000470238.1_5'UTR|SCYL3_ENST00000367770.1_Frame_Shift_Del_p.VC146fs|SCYL3_ENST00000367772.4_Frame_Shift_Del_p.VC146fs	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)		Protein kinase.				cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					GAGAAACTTTACAAACAGTTTCCA	0.441													-	169845146	ACAA	-	169845143	7	5	581	1	0	1	0	1	0	0	0	0	14042	389	14	0	1831	0	SCYL3	1	169845143	Frame_Shift_Del	DEL	ACAA	TCGA-HT-8105-01A-11D-2395-08	17564439	169845143	79405478	6	48895											
CNTN2	6900	broad.mit.edu	37	chr1	205030440	205030440	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagtggaccacagctgagCccaccctgcagatccccagc	9	4	10	18	1	0	2	0	1	0	1	1	3	1	3	5	1	4	3	5	1	0	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:205030440C>G	ENST00000331830.4	+	8	1149	c.865C>G	c.(865-867)Ccc>Gcc	p.P289A		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	289	Ig-like C2-type 3.				axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CACAGCTGAGCCCACCCTGCA	0.647											OREG0014144	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	205030440	C	G	205030440	3	3	581	1	0	0	0	0	1	0	0	0	3672	739	26	4	891	4	CNTN2	1	205030440	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	35185297	205030440	44220181	7	48896											
C1orf131	128061	broad.mit.edu	37	chr1	231374902	231374904	+	In_Frame_Del	DEL	TCT	TCT	-																															gttttcccttttctttatgaTcttcttctgttctgtttcac																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr1:231374902_231374904delTCT	ENST00000318906.2	-	2	177_179	c.149_151delAGA	c.(148-153)aagatc>atc	p.K50del	C1orf131_ENST00000366649.2_In_Frame_Del_p.K50del|C1orf131_ENST00000471936.1_5'UTR|C1orf131_ENST00000366651.3_In_Frame_Del_p.K50del			Q8NDD1	CA131_HUMAN	chromosome 1 open reading frame 131	50										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	8	Breast(184;0.0871)	all_cancers(173;0.2)|Prostate(94;0.183)				TTCTTTATGATCTTCTTCTGTTC	0.424													-	231374904	TCT	-	231374902	7	5	581	1	0	1	0	1	0	0	0	0	2018	1435	50	0	754	0	C1orf131	1	231374902	In_Frame_Del	DEL	TCT	TCGA-HT-8105-01A-11D-2395-08	26344462	231374902	17875719	8	48897											
ALS2	57679	broad.mit.edu	37	chr2	202619251	202619251	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaacatcgccgtgccccaGctgcccttccttccctttcc	5	10	6	20	2	0	1	0	0	0	1	4	1	3	1	7	0	4	1	7	0	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:202619251G>A	ENST00000264276.6	-	6	1987	c.1615C>T	c.(1615-1617)Ctg>Ttg	p.L539L		NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	539					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CCGTGCCCCAGCTGCCCTTCC	0.517													A	202619251	G	A	202619251	2	1	581	1	0	0	0	0	0	0	0	1	550	962	34	2		2	ALS2	2	202619251	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		202619251	40580122	9	48898											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	581	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	6493861	209113112	34086261	10	48899											
ARMC9	80210	broad.mit.edu	37	chr2	232079592	232079592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccagaaggtgttcttcGatctgtgggaggagcacatt	10	10	14	7	1	2	2	0	0	2	2	3	6	2	4	1	3	1	2	1	3	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr2:232079592G>T	ENST00000349938.4	+	4	420	c.226G>T	c.(226-228)Gat>Tat	p.D76Y	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	76							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GGTGTTCTTCGATCTGTGGGA	0.453													T	232079592	G	T	232079592	3	4	581	1	0	0	0	0	1	0	0	0	963	1058	37	4	236	4	ARMC9	2	232079592	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	22966480	232079592	11119781	11	48900											
GRM7	2917	broad.mit.edu	37	chr3	7503380	7503380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccgggttaccgtctgatcGggcagtggacagacgaactt	9	8	13	11	4	1	2	0	1	1	1	2	4	1	3	2	3	2	2	2	3	2	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:7503380G>A	ENST00000486284.1	+	7	1760	c.1486G>A	c.(1486-1488)Ggg>Agg	p.G496R	GRM7_ENST00000458641.2_3'UTR|GRM7_ENST00000402647.2_Missense_Mutation_p.G496R|GRM7_ENST00000389336.4_Missense_Mutation_p.G496R|GRM7_ENST00000357716.4_Missense_Mutation_p.G496R|GRM7_ENST00000403881.1_Missense_Mutation_p.G496R	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	496					negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76					L-Glutamic Acid(DB00142)	CCGTCTGATCGGGCAGTGGAC	0.468													A	7503380	G	A	7503380	3	1	581	1	0	0	0	0	1	0	0	0	6857	1116	39	1	1512	1	GRM7	3	7503380	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7503380	190519050	12	48901											
GOLGA4	2803	broad.mit.edu	37	chr3	37402755	37402755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacttcacctcgcagtggtAtcttctgagtaaaccatcag	10	13	7	11	1	4	1	2	1	2	0	5	1	4	1	2	1	2	3	2	1	4	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:37402755A>G	ENST00000361924.2	+	23	7059	c.6685A>G	c.(6685-6687)Atc>Gtc	p.I2229V	GOLGA4_ENST00000356847.4_Intron|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2229					Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding			NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						TCGCAGTGGTATCTTCTGAGT	0.353													G	37402755	A	G	37402755	3	3	581	1	0	0	0	0	1	0	0	0	6611	449	16	3	6845	3	GOLGA4	3	37402755	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08	29899375	37402755	160619675	13	48902											
CELSR3	1951	broad.mit.edu	37	chr3	48699364	48699365	+	Frame_Shift_Ins	INS	-	-	G																															agatcccgaggcccctggaaINSgacagttccgccggggggct																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:48699364_48699365insG	ENST00000544264.1	-	1	983_984	c.703_704insC	c.(703-705)cttfs	p.L235fs	CELSR3_ENST00000164024.4_Frame_Shift_Ins_p.L235fs			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	235					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GGCCCCTGGAAGACAGTTCCGC	0.658													G	48699365	-	G	48699364	7	5	581	1	0	1	1	0	0	0	0	0	3253	72	3	0	9374	0	CELSR3	3	48699364	Frame_Shift_Ins	INS	-	TCGA-HT-8105-01A-11D-2395-08	11296609	48699364	149323066	14	48903											
PDZRN3	23024	broad.mit.edu	37	chr3	73433161	73433161	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taggcgctgcccagcttctgGctgggcgtggggctccggct	2	9	17	13	3	1	0	0	0	1	0	2	0	2	0	2	6	2	5	2	6	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:73433161G>C	ENST00000263666.4	-	10	2670	c.2556C>G	c.(2554-2556)agC>agG	p.S852R	PDZRN3_ENST00000535920.1_Missense_Mutation_p.S574R|PDZRN3_ENST00000479530.1_Missense_Mutation_p.S569R|PDZRN3_ENST00000466780.1_Missense_Mutation_p.S509R|PDZRN3_ENST00000462146.2_Missense_Mutation_p.S509R	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	852							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		CCAGCTTCTGGCTGGGCGTGG	0.662													C	73433161	G	C	73433161	3	2	581	1	0	0	0	0	1	0	0	0	11785	1194	42	4	648	4	PDZRN3	3	73433161	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	24733797	73433161	124589269	15	48904											
ROBO2	6092	broad.mit.edu	37	chr3	77595545	77595545	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgctcaaggtcgaacaGtgacatttccctgtgaaact	10	13	9	9	1	1	2	1	2	0	0	3	3	2	2	1	1	3	2	1	1	3	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:77595545G>C	ENST00000461745.1	+	7	1891	c.991G>C	c.(991-993)Gtg>Ctg	p.V331L	ROBO2_ENST00000332191.8_Missense_Mutation_p.V331L|ROBO2_ENST00000487694.3_Missense_Mutation_p.V347L	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	331	Ig-like C2-type 4.				apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		AGGTCGAACAGTGACATTTCC	0.433													C	77595545	G	C	77595545	3	2	581	1	0	0	0	0	1	0	0	0	13605	1029	36	4	1019	4	ROBO2	3	77595545	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	4162384	77595545	120426885	16	48905											
OR5H14	403273	broad.mit.edu	37	chr3	97868537	97868537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcaagatacagttgttttCgtttgcaatcagtgtaacca	12	14	8	7	1	1	1	1	0	0	1	2	1	1	1	1	0	4	6	1	0	4	6			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:97868537C>T	ENST00000437310.1	+	1	368	c.308C>T	c.(307-309)tCg>tTg	p.S103L		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	103					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S103L(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						CAGTTGTTTTCGTTTGCAATC	0.393													T	97868537	C	T	97868537	3	4	581	1	0	0	0	0	1	0	0	0	11236	893	31	1	310	1	OR5H14	3	97868537	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	20272992	97868537	100153893	17	48906											
PLCH1	23007	broad.mit.edu	37	chr3	155200026	155200026	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtttcataaactgtgttCgttgcatgtttggtggtctc	6	18	11	6	1	2	0	1	0	1	0	4	0	2	0	0	2	2	6	0	2	3	6			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:155200026C>T	ENST00000460012.1	-	23	4056	c.3699G>A	c.(3697-3699)acG>acA	p.T1233T	PLCH1_ENST00000447496.2_3'UTR|PLCH1_ENST00000334686.6_Silent_p.T1233T|PLCH1_ENST00000494598.1_Intron|PLCH1_ENST00000340059.7_Silent_p.T1271T|PLCH1_ENST00000414191.1_Silent_p.T1233T			Q4KWH8	PLCH1_HUMAN	phospholipase C, eta 1	1271					lipid catabolic process|phosphatidylinositol-mediated signaling	membrane	calcium ion binding|calcium-dependent phospholipase C activity|phosphatidylinositol phospholipase C activity|signal transducer activity	p.T1233T(1)|p.T1271T(1)		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)			AAACTGTGTTCGTTGCATGTT	0.468													T	155200026	C	T	155200026	2	4	581	1	0	0	0	0	0	0	0	1	12114	871	31	1		1	PLCH1	3	155200026	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	57331489	155200026	42822404	18	48907											
LRRC31	79782	broad.mit.edu	37	chr3	169558001	169558001	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctctttgaggaaccgcacGttttggcagaacatggtcca	10	10	11	10	2	1	2	0	1	1	1	2	3	2	3	2	3	3	4	2	3	2	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr3:169558001G>A	ENST00000316428.5	-	9	1485	c.1428C>T	c.(1426-1428)aaC>aaT	p.N476N	LRRC31_ENST00000523069.1_3'UTR|LRRC31_ENST00000264676.5_Silent_p.N420N	NM_001277127.1|NM_024727.2	NP_001264056.1|NP_079003.2	Q6UY01	LRC31_HUMAN	leucine rich repeat containing 31	476										cervix(3)|endometrium(3)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	31	all_cancers(22;2.76e-22)|all_epithelial(15;4.73e-27)|all_lung(20;9.24e-17)|Lung NSC(18;3.85e-16)|Ovarian(172;0.000223)|Breast(254;0.197)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.00943)			GGAACCGCACGTTTTGGCAGA	0.473													A	169558001	G	A	169558001	2	1	581	1	0	0	0	0	0	0	0	1	9056	1136	40	1		1	LRRC31	3	169558001	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	14357975	169558001	28464429	19	48908											
SLC6A3	6531	broad.mit.edu	37	chr5	1409222	1409222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaaaatggtccaggagcgTgaagacgtagatgccaccct	12	7	12	10	2	0	3	0	1	0	2	1	4	1	4	3	2	3	2	3	2	4	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr5:1409222T>G	ENST00000270349.9	-	11	1544	c.1417A>C	c.(1417-1419)Acg>Ccg	p.T473P	SLC6A3_ENST00000453492.2_Missense_Mutation_p.T473P	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	473					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	TCCAGGAGCGTGAAGACGTAG	0.582													G	1409222	T	G	1409222	3	3	581	1	0	0	0	0	1	0	0	0	14779	1696	59	5	465	5	SLC6A3	5	1409222	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08		1409222	179506038	20	48909											
HIST1H1C	3006	broad.mit.edu	37	chr6	26056630	26056630	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaggaggcgcggcagcGggagcggcaggagcagtctc	7	3	19	12	5	1	0	0	0	1	0	3	3	2	3	1	6	3	4	1	6	0	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:26056630G>C	ENST00000343677.2	-	1	69	c.27C>G	c.(25-27)ccC>ccG	p.P9P		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	9					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						GCGCGGCAGCGGGAGCGGCAG	0.617													C	26056630	G	C	26056630	2	2	581	1	0	0	0	0	0	0	0	1	7179	1103	39	4		4	HIST1H1C	6	26056630	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		26056630	145058437	21	48910											
SIM1	6492	broad.mit.edu	37	chr6	100898211	100898211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcccatctggggctaccaCgaagatgaagccatccaggg	10	7	11	13	1	1	2	0	1	1	1	3	3	3	2	4	3	2	1	4	3	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:100898211C>T	ENST00000369208.3	-	4	1062	c.280G>A	c.(280-282)Gtg>Atg	p.V94M	SIM1_ENST00000262901.4_Missense_Mutation_p.V94M			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	94	PAS 1.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		GGGGCTACCACGAAGATGAAG	0.527													T	100898211	C	T	100898211	3	4	581	1	0	0	0	0	1	0	0	0	14417	536	19	1	2056	1	SIM1	6	100898211	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	74841581	100898211	70216856	22	48911											
LAMA2	3908	broad.mit.edu	37	chr6	129762070	129762072	+	In_Frame_Del	DEL	GAA	GAA	-																															caccagaacctcgatggcctGaagaagaattacaataaact																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr6:129762070_129762072delGAA	ENST00000421865.2	+	43	6244_6246	c.6195_6197delGAA	c.(6193-6198)ctgaag>ctg	p.K2067del		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2067	Domain II and I.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TCGATGGCCTGAAGAAGAATTAC	0.438													-	129762072	GAA	-	129762070	7	5	581	1	0	1	0	1	0	0	0	0	8665	1277	45	0	6365	0	LAMA2	6	129762070	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	28863859	129762070	41352997	23	48912											
C1GALT1	56913	broad.mit.edu	37	chr7	7278106	7278109	+	Frame_Shift_Del	DEL	AATT	AATT	-																															gatcaactatactggaaaacAattaaagcttttcagtatgt																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:7278106_7278109delAATT	ENST00000436587.2	+	3	664_667	c.441_444delAATT	c.(439-444)acaattfs	p.TI147fs	C1GALT1_ENST00000223122.3_Frame_Shift_Del_p.TI147fs|C1GALT1_ENST00000402468.3_Frame_Shift_Del_p.TI147fs	NM_020156.3	NP_064541.1	Q9NS00	C1GLT_HUMAN	core 1 synthase, glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase, 1	147					angiogenesis|cell differentiation|kidney development	integral to membrane	glycoprotein-N-acetylgalactosamine 3-beta-galactosyltransferase activity|metal ion binding			breast(1)|kidney(1)|lung(3)|prostate(1)|urinary_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (126;0.177)		ACTGGAAAACAATTAAAGCTTTTC	0.358													-	7278109	AATT	-	7278106	7	5	581	1	0	1	0	1	0	0	0	0	1972	117	5	0	447	0	C1GALT1	7	7278106	Frame_Shift_Del	DEL	AATT	TCGA-HT-8105-01A-11D-2395-08		7278106	151860557	24	48913											
JAZF1	221895	broad.mit.edu	37	chr7	27880482	27880482	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctcctcctcgtcatactcGctgcctgcaggacaagagaa	10	8	8	15	2	1	1	1	0	0	1	5	3	3	2	4	1	3	2	4	1	3	1	rs142184731		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:27880482G>A	ENST00000283928.5	-	4	555	c.390C>T	c.(388-390)agC>agT	p.S130S	JAZF1_ENST00000466516.1_5'UTR	NM_175061.3	NP_778231.2	Q86VZ6	JAZF1_HUMAN	JAZF zinc finger 1	130		Breakpoint for translocation to form JAZF1-SUZ12 oncogene.			negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcriptional repressor complex	nucleic acid binding|transcription corepressor activity|zinc ion binding		JAZF1/SUZ12(133)	endometrium(1)|large_intestine(1)|lung(4)	6						CGTCATACTCGCTGCCTGCAG	0.592			T	SUZ12	endometrial stromal tumours								A	27880482	G	A	27880482	2	1	581	1	0	0	0	0	0	0	0	1	8004	1078	38	1		1	JAZF1	7	27880482	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	20602376	27880482	131258181	25	48914											
WBSCR16	81554	broad.mit.edu	37	chr7	74486566	74486566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagtgtgaatccatagccGcaagcagcagatgaaatctg	14	7	11	9	1	1	3	0	2	1	1	2	3	2	3	2	0	4	4	2	0	4	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:74486566G>A	ENST00000503250.2	-	2	411	c.342C>T	c.(340-342)tgC>tgT	p.C114C	WBSCR16_ENST00000329959.4_Silent_p.C114C|WBSCR16_ENST00000543840.1_Silent_p.C114C	NM_148842.2	NP_683682.1	Q96I51	WBS16_HUMAN	Williams-Beuren syndrome chromosome region 16	114										kidney(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						ATCCATAGCCGCAAGCAGCAG	0.423													A	74486566	G	A	74486566	2	1	581	1	0	0	0	0	0	0	0	1	17365	1079	38	1		1	WBSCR16	7	74486566	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	46606084	74486566	84652097	26	48915											
ABCB4	5244	broad.mit.edu	37	chr7	87053254	87053254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagaatatgactgaaaatgCcggctgaagccccccattgg	12	8	11	10	1	0	4	0	4	0	1	0	5	0	4	4	2	2	1	4	2	5	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:87053254C>T	ENST00000265723.4	-	17	2290	c.2179G>A	c.(2179-2181)Gca>Aca	p.A727T	ABCB4_ENST00000545634.1_Missense_Mutation_p.A727T|ABCB4_ENST00000453593.1_Missense_Mutation_p.A727T|ABCB4_ENST00000358400.3_Missense_Mutation_p.A727T|ABCB4_ENST00000359206.3_Missense_Mutation_p.A727T	NM_000443.3|NM_018849.2	NP_000434.1|NP_061337.1	P21439	MDR3_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 4	727	ABC transmembrane type-1 2.				cellular lipid metabolic process	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus|membrane fraction	ATP binding|xenobiotic-transporting ATPase activity			breast(5)|endometrium(7)|kidney(2)|large_intestine(15)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)					ACTGAAAATGCCGGCTGAAGC	0.458													T	87053254	C	T	87053254	3	4	581	1	0	0	0	0	1	0	0	0	43	739	26	2	1729	2	ABCB4	7	87053254	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12566688	87053254	72085409	27	48916											
TTC26	79989	broad.mit.edu	37	chr7	138822611	138822613	+	In_Frame_Del	DEL	GAA	GAA	-																															agttcaaacgtcatgttgggGaagaagaagaggatactaat																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:138822611_138822613delGAA	ENST00000464848.1	+	3	240_242	c.160_162delGAA	c.(160-162)gaadel	p.E57del	TTC26_ENST00000474035.2_In_Frame_Del_p.E57del|TTC26_ENST00000495038.1_In_Frame_Del_p.E57del|TTC26_ENST00000430935.1_In_Frame_Del_p.E57del|TTC26_ENST00000478836.2_In_Frame_Del_p.E57del|TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	57							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						TCATGTTGGGGAAGAAGAAGAGG	0.33													-	138822613	GAA	-	138822611	7	5	581	1	0	1	0	1	0	0	0	0	16796	1175	41	0	170	0	TTC26	7	138822611	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	51769357	138822611	20316052	28	48917											
AGAP3	116988	broad.mit.edu	37	chr7	150840954	150840954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggagggctgtggcttagCgcctacccccaacagagagc	8	6	15	12	1	0	1	0	0	0	1	0	3	0	2	3	4	4	2	3	4	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr7:150840954C>T	ENST00000397238.2	+	18	2660	c.2660C>T	c.(2659-2661)gCg>gTg	p.A887V	AGAP3_ENST00000463381.1_Missense_Mutation_p.A556V	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	851					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						TGTGGCTTAGCGCCTACCCCC	0.647													T	150840954	C	T	150840954	3	4	581	1	0	0	0	0	1	0	0	0	369	768	27	1	2797	1	AGAP3	7	150840954	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12018343	150840954	8297709	29	48918											
GPR124	25960	broad.mit.edu	37	chr8	37687461	37687461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctgtcggaacacaCgctctgtgcttaccccagtg	7	9	10	15	2	1	0	0	0	1	0	2	1	1	1	3	1	5	4	3	1	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:37687461C>T	ENST00000315215.7	+	6	1010	c.647C>T	c.(646-648)aCg>aTg	p.T216M	GPR124_ENST00000412232.2_Missense_Mutation_p.T216M			Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	216	LRRCT.				central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			TCGGAACACACGCTCTGTGCT	0.662													T	37687461	C	T	37687461	3	4	581	1	0	0	0	0	1	0	0	0	6692	536	19	1	648	1	GPR124	8	37687461	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		37687461	108676561	30	48919											
BHLHE22	27319	broad.mit.edu	37	chr8	65494021	65494023	+	In_Frame_Del	DEL	GCA	GCA	-																															tagcggtagcggcagcggcgGcagcagcagcagcagcagca																								rs62519837		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr8:65494021_65494023delGCA	ENST00000321870.1	+	1	1208_1210	c.674_676delGCA	c.(673-678)ggcagc>ggc	p.S234del	RP11-21C4.1_ENST00000517909.1_RNA	NM_152414.4	NP_689627.1	Q8NFJ8	BHE22_HUMAN	basic helix-loop-helix family, member e22	234	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.S234delS(1)|p.S226G(1)		NS(1)|central_nervous_system(1)|lung(1)|prostate(1)|skin(1)	5						ggcagcggcggcagcagcagcag	0.709													-	65494023	GCA	-	65494021	7	5	581	1	0	1	0	1	0	0	0	0	1427	1203	42	0	676	0	BHLHE22	8	65494021	In_Frame_Del	DEL	GCA	TCGA-HT-8105-01A-11D-2395-08	27806560	65494021	80870001	31	48920											
CREB3	10488	broad.mit.edu	37	chr9	35736657	35736660	+	Frame_Shift_Del	DEL	AAGG	AAGG	-																															cccctgcaggcaaatctcacAaggaagggaggatggcttcc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:35736657_35736660delAAGG	ENST00000353704.2	+	9	1488_1491	c.1050_1053delAAGG	c.(1048-1053)acaaggfs	p.TR350fs	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	374	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CAAATCTCACAAGGAAGGGAGGAT	0.583											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	35736660	AAGG	-	35736657	7	5	581	1	0	1	0	1	0	0	0	0	3886	117	5	0	1084	0	CREB3	9	35736657	Frame_Shift_Del	DEL	AAGG	TCGA-HT-8105-01A-11D-2395-08		35736657	105476774	32	48921											
MEGF9	1955	broad.mit.edu	37	chr9	123374758	123374760	+	In_Frame_Del	DEL	CTT	CTT	-																															atcaggactctgataaaatcCttctttacattcttcacagt																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:123374758_123374760delCTT	ENST00000373930.3	-	4	1112_1114	c.1001_1003delAAG	c.(1000-1005)gaagga>gga	p.E334del	MEGF9_ENST00000426959.1_In_Frame_Del_p.E371del	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	334	Laminin EGF-like 3.					integral to membrane	calcium ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						TGATAAAATCCTTCTTTACATTC	0.374													-	123374760	CTT	-	123374758	7	5	581	1	0	1	0	1	0	0	0	0	9539	690	24	0	817	0	MEGF9	9	123374758	In_Frame_Del	DEL	CTT	TCGA-HT-8105-01A-11D-2395-08	87638101	123374758	17838673	33	48922											
ZER1	10444	broad.mit.edu	37	chr9	131512920	131512920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcctggtaggattccatgCcattcagcaccacctggata	9	10	8	14	0	1	0	1	0	0	0	3	2	3	2	6	3	2	2	6	3	2	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:131512920C>T	ENST00000291900.2	-	8	1740	c.1334G>A	c.(1333-1335)gGc>gAc	p.G445D		NM_006336.2	NP_006327.2	Q7Z7L7	ZER1_HUMAN	zyg-11 related, cell cycle regulator	445					ATP hydrolysis coupled proton transport|regulation of ubiquitin-protein ligase activity	Cul2-RING ubiquitin ligase complex|vacuolar proton-transporting V-type ATPase, V1 domain	protein binding|proton-transporting ATPase activity, rotational mechanism|ubiquitin-protein ligase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	15						GGATTCCATGCCATTCAGCAC	0.627													T	131512920	C	T	131512920	3	4	581	1	0	0	0	0	1	0	0	0	17726	739	26	2	1002	2	ZER1	9	131512920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	8138162	131512920	9700511	34	48923											
SETX	23064	broad.mit.edu	37	chr9	135211887	135211887	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagtttcttgcagtcaagaTagcccaacgccgaacctaaa	14	8	7	12	2	2	1	1	0	1	1	2	2	2	1	3	0	4	2	3	0	7	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:135211887T>C	ENST00000372169.2	-	6	696	c.514A>G	c.(514-516)Atc>Gtc	p.I172V	SETX_ENST00000224140.5_Missense_Mutation_p.I172V|SETX_ENST00000393220.1_Missense_Mutation_p.I172V			Q7Z333	SETX_HUMAN	senataxin	172					cell death|double-strand break repair|RNA processing	cytoplasm|nucleolus|nucleoplasm	ATP binding|DNA helicase activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(1)|lung(36)|ovary(2)|prostate(2)|skin(1)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	97		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;6.82e-06)|Epithelial(140;0.000171)		GCAGTCAAGATAGCCCAACGC	0.348													C	135211887	T	C	135211887	3	2	581	1	0	0	0	0	1	0	0	0	14234	1406	49	3	7603	3	SETX	9	135211887	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	3698967	135211887	6001544	35	48924											
NOTCH1	4851	broad.mit.edu	37	chr9	139412725	139412727	+	In_Frame_Del	DEL	GTT	GTT	-																															gggttgctgatgcatgcgtcGttgaggtggcacagcagacc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr9:139412725_139412727delGTT	ENST00000277541.6	-	7	1192_1194	c.1117_1119delAAC	c.(1117-1119)aacdel	p.N373del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	373	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGCATGCGTCGTTGAGGTGGCAC	0.67			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139412727	GTT	-	139412725	7	5	581	1	0	1	0	1	0	0	0	0	10623	1136	40	0	6660	0	NOTCH1	9	139412725	In_Frame_Del	DEL	GTT	TCGA-HT-8105-01A-11D-2395-08	4200838	139412725	1800706	36	48925											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606210	1606210	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttggatcccccacaagaGccacagccccccttgcagcc	8	5	7	21	0	0	1	0	0	0	1	1	2	1	2	8	1	4	1	8	1	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:1606210G>A	ENST00000382171.2	-	1	303	c.270C>T	c.(268-270)ggC>ggT	p.G90G	KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	90	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)		CCCCACAAGAGCCACAGCCCC	0.667													A	1606210	G	A	1606210	2	1	581	1	0	0	0	0	0	0	0	1	8617	958	34	2		2	KRTAP5-1	11	1606210	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08		1606210	133400306	37	48926											
OR5T3	390154	broad.mit.edu	37	chr11	56020647	56020647	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcatctatagtttgaggaaCaaagaagtaaaaaaggcagt	19	9	9	4	0	2	2	1	1	1	1	2	3	2	3	0	2	1	3	0	2	8	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:56020647C>A	ENST00000303059.3	+	1	972	c.972C>A	c.(970-972)aaC>aaA	p.N324K		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	324					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GTTTGAGGAACAAAGAAGTAA	0.323													A	56020647	C	A	56020647	3	1	581	1	0	0	0	0	1	0	0	0	11259	477	17	4	974	4	OR5T3	11	56020647	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	54414437	56020647	78985869	38	48927											
SERPING1	710	broad.mit.edu	37	chr11	57365774	57365776	+	In_Frame_Del	DEL	CTG	CTG	-																															ggctgaccctgctgaccctcCtgctgctgctgctggctggg																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:57365774_57365776delCTG	ENST00000403558.1	+	1	499_501	c.133_135delCTG	c.(133-135)ctgdel	p.L49del	SERPING1_ENST00000378323.4_In_Frame_Del_p.L15del|SERPING1_ENST00000378324.2_Intron|SERPING1_ENST00000340687.6_In_Frame_Del_p.L15del|SERPING1_ENST00000278407.4_In_Frame_Del_p.L15del	NM_001032295.1	NP_001027466.1	P05155	IC1_HUMAN	serpin peptidase inhibitor, clade G (C1 inhibitor), member 1	15					blood circulation|blood coagulation, intrinsic pathway|complement activation, classical pathway|innate immune response|negative regulation of complement activation, lectin pathway|platelet activation|platelet degranulation	extracellular space|platelet alpha granule lumen	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(11)|pancreas(2)|prostate(1)|urinary_tract(1)	27						GCTGACCCTCCTGCTGCTGCTGC	0.714													-	57365776	CTG	-	57365774	7	5	581	1	0	1	0	1	0	0	0	0	14209	680	24	0	33	0	SERPING1	11	57365774	In_Frame_Del	DEL	CTG	TCGA-HT-8105-01A-11D-2395-08	1345127	57365774	77640742	39	48928											
NUDT22	84304	broad.mit.edu	37	chr11	63997567	63997567	+	RNA	DEL	A	A	-																															ggcaggacaagtgacttgggAaaaaaaaaaaaaaaaacccg																								rs11364788		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:63997567delA	ENST00000534988.1	-	0	99																											GTGACTTGGGAAAAAAAAAAA	0.498													-	63997567	A	-	63997567	6	5	581	0	1	1	0	1	0	0	0	0	10815	261	9	0		0	NUDT22	11	63997567	RNA	DEL	A	TCGA-HT-8105-01A-11D-2395-08	6631793	63997567	71008949	40	48929											
PLEKHB1	58473	broad.mit.edu	37	chr11	73362876	73362877	+	Frame_Shift_Del	DEL	TG	TG	-																															agccgagatggcctgctgacTgtgaacctacgggaaggcgg																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:73362876_73362877delTG	ENST00000354190.5	+	4	722_723	c.291_292delTG	c.(289-294)actgtgfs	p.V98fs	PLEKHB1_ENST00000543085.1_Frame_Shift_Del_p.V28fs|PLEKHB1_ENST00000398492.4_Frame_Shift_Del_p.V98fs|PLEKHB1_ENST00000535129.1_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000398494.4_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000227214.6_Frame_Shift_Del_p.V79fs|PLEKHB1_ENST00000544532.1_3'UTR	NM_021200.2	NP_067023.1	Q9UF11	PKHB1_HUMAN	pleckstrin homology domain containing, family B (evectins) member 1	98	PH.				multicellular organismal development|phototransduction	cytoplasm|integral to membrane	signal transducer activity			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)	7						GCCTGCTGACTGTGAACCTACG	0.624													-	73362877	TG	-	73362876	7	5	581	1	0	1	0	1	0	0	0	0	12141	1567	55	0	305	0	PLEKHB1	11	73362876	Frame_Shift_Del	DEL	TG	TCGA-HT-8105-01A-11D-2395-08	9365309	73362876	61643640	41	48930											
RSF1	51773	broad.mit.edu	37	chr11	77386296	77386296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacacaacaaactcatctTgagatctgtccaagagaaat	17	8	6	10	0	3	3	1	1	2	3	4	5	4	3	1	0	2	0	1	0	4	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:77386296T>C	ENST00000308488.6	-	14	3649	c.3347A>G	c.(3346-3348)cAa>cGa	p.Q1116R	RSF1_ENST00000360355.2_Missense_Mutation_p.Q1085R|RSF1_ENST00000480887.1_Missense_Mutation_p.Q864R			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			AAACTCATCTTGAGATCTGTC	0.393													C	77386296	T	C	77386296	3	2	581	1	0	0	0	0	1	0	0	0	13790	1812	63	3	990	3	RSF1	11	77386296	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	4023420	77386296	57620220	42	48931											
AMOTL1	154810	broad.mit.edu	37	chr11	94554698	94554698	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccattgccttgcagccGcccatgccaacttccgttcc	5	11	6	19	2	0	0	0	0	0	0	3	0	3	0	8	0	5	2	8	0	1	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr11:94554698G>A	ENST00000433060.2	+	4	1265	c.1124G>A	c.(1123-1125)cGc>cAc	p.R375H	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317837.9_Missense_Mutation_p.R375H|AMOTL1_ENST00000317829.8_Missense_Mutation_p.R325H	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	375						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				CCTTGCAGCCGCCCATGCCAA	0.602													A	94554698	G	A	94554698	3	1	581	1	0	0	0	0	1	0	0	0	583	1087	38	1	1138	1	AMOTL1	11	94554698	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17168402	94554698	40451818	43	48932											
ABCC9	10060	broad.mit.edu	37	chr12	22069947	22069947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgcctgtgatgcagaaaCgcaggtttgatatgtccaag	11	11	11	8	1	1	3	1	2	0	1	2	3	2	3	2	1	3	3	2	1	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:22069947C>T	ENST00000261200.4	-	4	496	c.497G>A	c.(496-498)cGt>cAt	p.R166H	ABCC9_ENST00000345162.2_Missense_Mutation_p.R166H|ABCC9_ENST00000261201.4_Missense_Mutation_p.R166H	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	166					defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GATGCAGAAACGCAGGTTTGA	0.418													T	22069947	C	T	22069947	3	4	581	1	0	0	0	0	1	0	0	0	59	536	19	1	4434	1	ABCC9	12	22069947	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08		22069947	111781948	44	48933											
NAB2	4665	broad.mit.edu	37	chr12	57487287	57487287	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacacatcctgcagcagacActgatggacgaggggctgcg	10	5	14	12	3	0	2	0	1	0	1	1	5	1	3	1	3	3	3	1	3	0	0			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:57487287A>G	ENST00000300131.3	+	6	1752	c.1374A>G	c.(1372-1374)acA>acG	p.T458T	NAB2_ENST00000357680.4_3'UTR|NAB2_ENST00000342556.6_Intron	NM_005967.3	NP_005958.1	Q15742	NAB2_HUMAN	NGFI-A binding protein 2 (EGR1 binding protein 2)	458					cell proliferation|negative regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	20						TGCAGCAGACACTGATGGACG	0.687													G	57487287	A	G	57487287	2	3	581	1	0	0	0	0	0	0	0	1	10208	146	6	3		3	NAB2	12	57487287	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08	35417340	57487287	76364608	45	48934											
CAPS2	84698	broad.mit.edu	37	chr12	75692508	75692508	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtattgttttccttttcttcGtccacactgatgactataaa	9	18	5	9	1	1	2	0	2	1	0	4	2	3	2	2	0	0	2	2	0	4	9			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:75692508G>A	ENST00000393284.3	-	11	965	c.364C>T	c.(364-366)Cga>Tga	p.R122*	CAPS2_ENST00000409445.3_Nonsense_Mutation_p.R354*|CAPS2_ENST00000409799.1_Nonsense_Mutation_p.R272*|CAPS2_ENST00000409004.1_5'UTR|CAPS2_ENST00000442339.2_Intron			Q9BXY5	CAYP2_HUMAN	calcyphosine 2	354							calcium ion binding			endometrium(2)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	10						CCTTTTCTTCGTCCACACTGA	0.353													A	75692508	G	A	75692508	4	1	581	1	0	0	0	0	0	1	0	0	2664	1153	40	1	641	1	CAPS2	12	75692508	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	18205221	75692508	58159387	46	48935											
DDX51	317781	broad.mit.edu	37	chr12	132626153	132626153	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagcggtacccatcagctcTacagaccagagagcagctcg	11	5	11	14	2	2	2	1	0	1	2	3	3	2	2	2	1	6	5	2	1	2	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr12:132626153T>C	ENST00000397333.3	-	7	1034		c.e7-2			NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51						rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCATCAGCTCTACAGACCAGA	0.622													C	132626153	T	C	132626153	5	2	581	1	0	0	0	0	0	0	1	0	4403	1536	53	3	1042	3	DDX51	12	132626153	Splice_Site	SNP	T	TCGA-HT-8105-01A-11D-2395-08	56933645	132626153	1225742	47	48936											
SLITRK5	26050	broad.mit.edu	37	chr13	88329500	88329500	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgactattcagatgtagtAgtttccacgcccacaccctc	9	11	6	15	1	1	2	1	1	0	1	3	2	2	2	4	0	0	3	4	0	3	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:88329500A>G	ENST00000325089.6	+	2	2076	c.1857A>G	c.(1855-1857)gtA>gtG	p.V619V	SLITRK5_ENST00000400028.3_Silent_p.V378V	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	619						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					CAGATGTAGTAGTTTCCACGC	0.592													G	88329500	A	G	88329500	2	3	581	1	0	0	0	0	0	0	0	1	14840	407	15	3		3	SLITRK5	13	88329500	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		88329500	26840378	48	48937											
TMTC4	84899	broad.mit.edu	37	chr13	101294549	101294549	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagaaggtggaagaatgCgctccctccttgttacctgc	9	9	10	13	1	0	2	0	0	0	2	2	3	2	3	4	2	3	2	4	2	4	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr13:101294549C>T	ENST00000342624.5	-	7	915	c.657G>A	c.(655-657)gcG>gcA	p.A219A	TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000328767.5_Silent_p.A89A|TMTC4_ENST00000376234.3_Silent_p.A200A	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					TGGAAGAATGCGCTCCCTCCT	0.468													T	101294549	C	T	101294549	2	4	581	1	0	0	0	0	0	0	0	1	16363	755	27	1		1	TMTC4	13	101294549	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	12965049	101294549	13875329	49	48938											
TCF12	6938	broad.mit.edu	37	chr15	57484478	57484479	+	Frame_Shift_Del	DEL	CT	CT	-																															aggaggagaccactccatgaCtctgcagcgcttggtgagtg																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:57484478_57484479delCT	ENST00000267811.5	+	7	817_818	c.513_514delCT	c.(511-516)gactctfs	p.S172fs	TCF12_ENST00000438423.2_Frame_Shift_Del_p.S172fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S172fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S172fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S168fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	172					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CACTCCATGACTCTGCAGCGCT	0.46			T	TEC	extraskeletal myxoid chondrosarcoma								-	57484479	CT	-	57484478	7	5	581	1	0	1	0	1	0	0	0	0	15787	564	20	0	535	0	TCF12	15	57484478	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08		57484478	45046914	50	48939											
CCDC33	80125	broad.mit.edu	37	chr15	74623086	74623086	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagcatttgcagaatgagctGattcgagtgagctggggctt	9	11	14	7	1	0	4	0	3	0	1	1	5	0	4	0	2	4	5	0	2	1	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr15:74623086G>A	ENST00000321288.5	+	15	2148	c.2148G>A	c.(2146-2148)ctG>ctA	p.L716L	CCDC33_ENST00000398814.3_Silent_p.L513L|CCDC33_ENST00000268082.4_Silent_p.L106L|CCDC33_ENST00000558821.1_Silent_p.L106L			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	716							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						AGAATGAGCTGATTCGAGTGA	0.567													A	74623086	G	A	74623086	2	1	581	1	0	0	0	0	0	0	0	1	2833	1277	45	2		2	CCDC33	15	74623086	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	17138608	74623086	27908306	51	48940											
WDR90	197335	broad.mit.edu	37	chr16	709106	709106	+	Frame_Shift_Del	DEL	C	C	-																															cgaccaaagcttccccggggCccccccagcctgcaagacag																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:709106delC	ENST00000549091.1	+	25	3124	c.3032delC	c.(3031-3033)gccfs	p.A1011fs	WDR90_ENST00000293879.4_Frame_Shift_Del_p.A1011fs	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90	1011										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				TTCCCCGGGGCCCCCCCAGCC	0.657													-	709106	C	-	709106	7	5	581	1	0	1	0	1	0	0	0	0	17439	739	26	0	3130	0	WDR90	16	709106	Frame_Shift_Del	DEL	C	TCGA-HT-8105-01A-11D-2395-08		709106	89645647	52	48941											
MYH11	4629	broad.mit.edu	37	chr16	15820745	15820745	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgagctccgcccgggccCgctccccatcgctgcacttg	4	8	10	19	4	0	1	0	1	0	0	3	1	2	1	5	1	2	4	5	1	0	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:15820745C>T	ENST00000452625.2	-	29	3926	c.3839G>A	c.(3838-3840)cGg>cAg	p.R1280Q	MYH11_ENST00000396324.3_Missense_Mutation_p.R1280Q|MYH11_ENST00000300036.5_Missense_Mutation_p.R1273Q|MYH11_ENST00000576790.2_Missense_Mutation_p.R1273Q|AF001548.5_ENST00000574212.1_RNA	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	1273					axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CGCCCGGGCCCGCTCCCCATC	0.647			T	CBFB	AML								T	15820745	C	T	15820745	3	4	581	1	0	0	0	0	1	0	0	0	10107	652	23	1	2191	1	MYH11	16	15820745	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	15111639	15820745	74534008	53	48942											
CNGB1	1258	broad.mit.edu	37	chr16	57918281	57918281	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccggggcgcgggtgggtcGgtggcggcctcctttgggtg	0	9	22	10	5	0	0	0	0	0	0	3	0	2	0	3	8	0	0	3	8	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:57918281G>A	ENST00000564448.1	-	33	3585	c.3525C>T	c.(3523-3525)acC>acT	p.T1175T	CNGB1_ENST00000251102.8_Silent_p.T1181T			Q14028	CNGB1_HUMAN	cyclic nucleotide gated channel beta 1	1181					sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(7)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(11)|liver(1)|lung(12)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	54						CGGGTGGGTCGGTGGCGGCCT	0.716													A	57918281	G	A	57918281	2	1	581	1	0	0	0	0	0	0	0	1	3631	1103	39	1		1	CNGB1	16	57918281	Silent	SNP	G	TCGA-HT-8105-01A-11D-2395-08	42097536	57918281	32436472	54	48943											
KCNG4	93107	broad.mit.edu	37	chr16	84270707	84270707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaagcaccagcttcccggCcgccaggaagctcacgatca	11	4	10	16	3	2	1	2	0	0	1	3	3	3	2	4	2	3	3	4	2	2	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270707C>T	ENST00000568181.1	-	2	505	c.385G>A	c.(385-387)Gcc>Acc	p.A129T	KCNG4_ENST00000308251.4_Missense_Mutation_p.A129T			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	129						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						AGCTTCCCGGCCGCCAGGAAG	0.637													T	84270707	C	T	84270707	3	4	581	1	0	0	0	0	1	0	0	0	8088	739	26	2	1180	2	KCNG4	16	84270707	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	26352426	84270707	6084046	55	48944											
KCNG4	93107	broad.mit.edu	37	chr16	84270753	84270755	+	In_Frame_Del	DEL	GAA	GAA	-																															aaggcgctggggctcctgtcGaagaagaactcctggctgtc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr16:84270753_84270755delGAA	ENST00000568181.1	-	2	457_459	c.337_339delTTC	c.(337-339)ttcdel	p.F113del	KCNG4_ENST00000308251.4_In_Frame_Del_p.F113del			Q8TDN1	KCNG4_HUMAN	potassium voltage-gated channel, subfamily G, member 4	113						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	31						GGCTCCTGTCGAAGAAGAACTCC	0.626													-	84270755	GAA	-	84270753	7	5	581	1	0	1	0	1	0	0	0	0	8088	1049	37	0	1226	0	KCNG4	16	84270753	In_Frame_Del	DEL	GAA	TCGA-HT-8105-01A-11D-2395-08	46	84270753	6084000	56	48945											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	581	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		7577121	73618089	57	48946											
SREBF1	6720	broad.mit.edu	37	chr17	17717630	17717630	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccactggccttctcacagaTggtcaggctggctggaccag	7	8	12	14	0	2	1	2	0	1	1	3	2	2	2	3	5	0	2	3	5	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717630T>C	ENST00000355815.4	-	17	3089	c.2920A>G	c.(2920-2922)Atc>Gtc	p.I974V	SREBF1_ENST00000395757.1_Missense_Mutation_p.I690V|SREBF1_ENST00000338854.5_Missense_Mutation_p.I944V|SREBF1_ENST00000261646.5_Missense_Mutation_p.I944V	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	944					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						TTCTCACAGATGGTCAGGCTG	0.657													C	17717630	T	C	17717630	3	2	581	1	0	0	0	0	1	0	0	0	15237	1464	51	3	629	3	SREBF1	17	17717630	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	10140509	17717630	63477580	58	48947			1	74		2	2	21	N	T_G	4.651545e-05
SREBF1	6720	broad.mit.edu	37	chr17	17717650	17717650	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggtcaggctggctggaccaGactctgccttggcacagccc	6	8	13	14	0	2	1	1	0	1	1	2	2	2	2	3	5	2	3	3	5	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:17717650G>C	ENST00000355815.4	-	17	3069	c.2900C>G	c.(2899-2901)tCt>tGt	p.S967C	SREBF1_ENST00000395757.1_Missense_Mutation_p.S683C|SREBF1_ENST00000338854.5_Missense_Mutation_p.S937C|SREBF1_ENST00000261646.5_Missense_Mutation_p.S937C	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	937					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GGCTGGACCAGACTCTGCCTT	0.642													C	17717650	G	C	17717650	3	2	581	1	0	0	0	0	1	0	0	0	15237	942	33	4	649	4	SREBF1	17	17717650	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	20	17717650	63477560	59	48948			1	74		2	2	21	N	T_G	4.651545e-05
SSH2	85464	broad.mit.edu	37	chr17	27975227	27975227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggttgggcttggttacCgttcgtctttctttcacata	4	18	10	9	2	3	0	1	0	2	0	4	0	3	0	1	3	1	4	1	3	2	8			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:27975227C>T	ENST00000269033.3	-	13	1432	c.1281G>A	c.(1279-1281)acG>acA	p.T427T	SSH2_ENST00000540801.1_Silent_p.T454T|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	427	Tyrosine-protein phosphatase.				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GCTTGGTTACCGTTCGTCTTT	0.502													T	27975227	C	T	27975227	2	4	581	1	0	0	0	0	0	0	0	1	15281	639	23	1		1	SSH2	17	27975227	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08	10257577	27975227	53219983	60	48949											
RPL23	9349	broad.mit.edu	37	chr17	37006642	37006642	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcctttattgttcactaTgactcctgcattatcttcaa	8	17	4	12	1	3	1	2	1	1	0	5	1	4	1	2	0	1	2	2	0	4	7			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:37006642T>C	ENST00000479035.2	-	4	445	c.313A>G	c.(313-315)Ata>Gta	p.I105V	RPL23_ENST00000577407.1_Missense_Mutation_p.I105V|RPL23_ENST00000245857.5_Missense_Mutation_p.I46V|RPL23_ENST00000394333.1_Intron|RPL23_ENST00000394332.1_Missense_Mutation_p.I105V	NM_000978.3	NP_000969.1	P62829	RL23_HUMAN	ribosomal protein L23	105					endocrine pancreas development|ribosomal protein import into nucleus|translational elongation|translational termination|viral transcription	cytosol|ribosome	protein binding|structural constituent of ribosome			endometrium(2)|large_intestine(1)	3						TTGTTCACTATGACTCCTGCA	0.423													C	37006642	T	C	37006642	3	2	581	1	0	0	0	0	1	0	0	0	13661	1464	51	3	117	3	RPL23	17	37006642	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	9031415	37006642	44188568	61	48950											
KRT37	8688	broad.mit.edu	37	chr17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggagcttctgcgtccCgcacttgtccgcctccacca	6	9	8	18	3	1	0	0	0	1	0	5	1	5	1	6	1	2	2	6	1	0	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627													T	39579137	C	T	39579137	3	4	581	1	0	0	0	0	1	0	0	0	8532	652	23	1	744	1	KRT37	17	39579137	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	2572495	39579137	41616073	62	48951											
NAGLU	4669	broad.mit.edu	37	chr17	40695939	40695939	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgaggccgatttctacGagcagaacagccgctaccag	11	5	12	13	4	1	1	0	0	1	1	1	4	1	1	4	2	5	2	4	2	3	3			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:40695939G>T	ENST00000225927.2	+	6	2016	c.1915G>T	c.(1915-1917)Gag>Tag	p.E639*	RP11-400F19.8_ENST00000585572.1_RNA	NM_000263.3	NP_000254.2	P54802	ANAG_HUMAN	N-acetylglucosaminidase, alpha	639						lysosome	alpha-N-acetylglucosaminidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|ovary(2)|skin(1)	12		all_cancers(22;1.58e-05)|Breast(137;0.000153)|all_epithelial(22;0.000344)		BRCA - Breast invasive adenocarcinoma(366;0.13)	N-Acetyl-D-glucosamine(DB00141)	CGATTTCTACGAGCAGAACAG	0.617													T	40695939	G	T	40695939	4	4	581	1	0	0	0	0	0	1	0	0	10219	1059	37	4	1937	4	NAGLU	17	40695939	Nonsense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	1116802	40695939	40499271	63	48952											
G6PC	2538	broad.mit.edu	37	chr17	41063361	41063361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgtccttctgcaagagtgCggtagtgcccctggcatccg	5	11	12	13	2	1	1	0	0	1	1	3	1	3	1	4	2	3	3	4	2	2	3	rs149486847		TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:41063361C>T	ENST00000253801.2	+	5	1071	c.992C>T	c.(991-993)gCg>gTg	p.A331V	G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	331					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	p.A331V(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		TGCAAGAGTGCGGTAGTGCCC	0.572													T	41063361	C	T	41063361	3	4	581	1	0	0	0	0	1	0	0	0	6195	768	27	1	1010	1	G6PC	17	41063361	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	367422	41063361	40131849	64	48953											
EFTUD2	9343	broad.mit.edu	37	chr17	42949920	42949920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggggaaaggatcaggttCtcatcagtggaatacatgct	12	10	13	6	0	3	0	3	0	1	0	4	3	3	3	0	5	2	2	0	5	3	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr17:42949920C>A	ENST00000426333.2	-	11	1185	c.888G>T	c.(886-888)gaG>gaT	p.E296D	EFTUD2_ENST00000592576.1_Missense_Mutation_p.E286D|EFTUD2_ENST00000591382.1_Missense_Mutation_p.E296D|EFTUD2_ENST00000402521.3_Missense_Mutation_p.E261D	NM_001142605.1|NM_001258354.1|NM_004247.3	NP_001136077.1|NP_001245283.1|NP_004238.3	Q15029	U5S1_HUMAN	elongation factor Tu GTP binding domain containing 2	296						Cajal body|catalytic step 2 spliceosome|cytoplasm|nuclear speck	GTP binding|GTPase activity|protein binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	32		Prostate(33;0.109)				GGATCAGGTTCTCATCAGTGG	0.562													A	42949920	C	A	42949920	3	1	581	1	0	0	0	0	1	0	0	0	5000	912	32	4	2102	4	EFTUD2	17	42949920	Missense_Mutation	SNP	C	TCGA-HT-8105-01A-11D-2395-08	1886559	42949920	38245290	65	48954											
LAMA3	3909	broad.mit.edu	37	chr18	21437924	21437924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactgagccaggagtgtgtgAcccagggaccggggcttgcc	7	6	17	11	1	0	2	0	2	0	0	0	5	0	4	4	4	2	1	4	4	0	1			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:21437924A>G	ENST00000313654.9	+	33	4494	c.4253A>G	c.(4252-4254)gAc>gGc	p.D1418G	LAMA3_ENST00000399516.3_Missense_Mutation_p.D1418G	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1418	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGAGTGTGTGACCCAGGGACC	0.552													G	21437924	A	G	21437924	3	3	581	1	0	0	0	0	1	0	0	0	8666	275	10	3	4383	3	LAMA3	18	21437924	Missense_Mutation	SNP	A	TCGA-HT-8105-01A-11D-2395-08		21437924	56639324	66	48955											
ZNF521	25925	broad.mit.edu	37	chr18	22807299	22807299	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcttgttggacgtgtgagTctttaagtggatcttcaagt	7	16	13	5	1	3	1	1	1	2	0	3	3	3	3	0	3	0	2	0	3	2	5			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:22807299T>C	ENST00000361524.3	-	4	731	c.583A>G	c.(583-585)Act>Gct	p.T195A	ZNF521_ENST00000538137.2_Missense_Mutation_p.T195A|ZNF521_ENST00000584787.1_5'UTR	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	195					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					GACGTGTGAGTCTTTAAGTGG	0.468			T	PAX5	ALL								C	22807299	T	C	22807299	3	2	581	1	0	0	0	0	1	0	0	0	18066	1667	58	3	3372	3	ZNF521	18	22807299	Missense_Mutation	SNP	T	TCGA-HT-8105-01A-11D-2395-08	1369375	22807299	55269949	67	48956											
LMAN1	3998	broad.mit.edu	37	chr18	57006123	57006123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgatttcaagatgaatacGattctgtccttcaaagactt	12	15	6	8	1	3	4	2	2	1	2	4	5	4	4	1	0	1	0	1	0	4	6			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr18:57006123G>A	ENST00000251047.5	-	9	1735	c.1018C>T	c.(1018-1020)Cgt>Tgt	p.R340C		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	340					blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	AGATGAATACGATTCTGTCCT	0.373													A	57006123	G	A	57006123	3	1	581	1	0	0	0	0	1	0	0	0	8897	1058	37	1	534	1	LMAN1	18	57006123	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08	34198824	57006123	21071125	68	48957											
OR7A5	26659	broad.mit.edu	37	chr19	14938184	14938184	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtctttattcctcagactAtagataaaggggttcagcat	12	14	8	7	0	3	2	2	0	1	2	4	2	4	2	1	2	1	2	1	2	5	7			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:14938184A>G	ENST00000322301.3	-	2	957	c.870T>C	c.(868-870)taT>taC	p.Y290Y	OR7A5_ENST00000601611.1_Intron|OR7A5_ENST00000594432.1_Silent_p.Y290Y			Q15622	OR7A5_HUMAN	olfactory receptor, family 7, subfamily A, member 5	290					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y290Y(2)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26						TCCTCAGACTATAGATAAAGG	0.478													G	14938184	A	G	14938184	2	3	581	1	0	0	0	0	0	0	0	1	11292	456	16	3		3	OR7A5	19	14938184	Silent	SNP	A	TCGA-HT-8105-01A-11D-2395-08		14938184	44190799	69	48958											
CIC	23152	broad.mit.edu	37	chr19	42794910	42794911	+	Frame_Shift_Del	DEL	CT	CT	-																															atggggccccagcagctcccCtgtcccgtcctgccgccacc																										TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr19:42794910_42794911delCT	ENST00000572681.2	+	11	4785_4786	c.4717_4718delCT	c.(4717-4719)ctgfs	p.L1573fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.L664fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L664fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	664	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGCAGCTCCCCTGTCCCGTCCT	0.688			"Mis, F, S"		oligodendroglioma								-	42794911	CT	-	42794910	7	5	581	1	0	1	0	1	0	0	0	0	3454	680	24	0	2028	0	CIC	19	42794910	Frame_Shift_Del	DEL	CT	TCGA-HT-8105-01A-11D-2395-08	27856726	42794910	16334073	70	48959											
SIRPD	128646	broad.mit.edu	37	chr20	1517874	1517874	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttctctcaggcagggcCgagaggcaggtatgggcatc	7	9	15	10	1	2	1	1	0	1	1	4	2	2	1	1	5	0	5	1	5	1	2			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chr20:1517874C>T	ENST00000381623.3	-	3	1693	c.504G>A	c.(502-504)tcG>tcA	p.S168S	SIRPD_ENST00000381621.1_Silent_p.S169S			Q9H106	SIRPD_HUMAN	signal-regulatory protein delta	168						extracellular region				breast(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|skin(1)	15						CAGGCAGGGCCGAGAGGCAGG	0.592													T	1517874	C	T	1517874	2	4	581	1	0	0	0	0	0	0	0	1	14429	639	23	1		1	SIRPD	20	1517874	Silent	SNP	C	TCGA-HT-8105-01A-11D-2395-08		1517874	61507646	71	48960											
CRLF2	64109	broad.mit.edu	37	chrX	1317467	1317467	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctctgaccagtcgcttgGgtatgtgtctggcccatata	7	12	10	12	1	2	1	0	1	2	0	3	1	2	1	3	2	0	2	3	2	3	4			TCGA-HT-8105-01A-11D-2395-08	TCGA-HT-8105-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04366e06-f986-4c65-8fbb-36d1dd3f6521	029fdf74-3d3a-48a6-b2b0-76d10fe7fd59	g.chrX:1317467G>T	ENST00000381567.3	-	5	597	c.598C>A	c.(598-600)Cca>Aca	p.P200T	CRLF2_ENST00000467626.1_Intron	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	200	Fibronectin type-III.					extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		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)				CAGTCGCTTGGGTATGTGTCT	0.532			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								T	1317467	G	T	1317467	3	4	581	1	0	0	0	0	1	0	0	0	3918	1232	43	4	183	4	CRLF2	23	1317467	Missense_Mutation	SNP	G	TCGA-HT-8105-01A-11D-2395-08		1317467	153953093	72	48961											
MYCBP	26292	broad.mit.edu	37	chr1	39330370	39330370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttctcctcctgaggtGgttcatactgagcaagctat	8	12	9	12	1	2	2	1	2	1	0	4	2	3	2	2	2	3	4	2	2	3	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:39330370G>A	ENST00000397572.2	-	5	1083	c.284C>T	c.(283-285)cCa>cTa	p.P95L	RP5-864K19.4_ENST00000433671.2_RNA|MYCBP_ENST00000489803.1_5'UTR|GJA9_ENST00000454994.2_3'UTR|RP5-864K19.4_ENST00000456813.1_RNA	NM_012333.4	NP_036465.2	Q99417	MYCBP_HUMAN	MYC binding protein	95					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	mitochondrion|nucleus	protein binding|transcription coactivator activity			large_intestine(1)|lung(1)|skin(1)	3	Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)				CTCCTGAGGTGGTTCATACTG	0.328													A	39330370	G	A	39330370	3	1	582	1	0	0	0	0	1	0	0	0	10093	1348	47	2	31	2	MYCBP	1	39330370	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		39330370	209920251	1	48962											
TIE1	7075	broad.mit.edu	37	chr1	43783268	43783268	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgaccatcgtgactttgCgggagaactggaagttctgt	11	11	12	7	2	1	3	0	2	1	1	2	5	1	4	1	2	2	1	1	2	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr1:43783268C>T	ENST00000372476.3	+	16	2733	c.2654C>T	c.(2653-2655)gCg>gTg	p.A885V	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.A530V	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	885	Protein kinase.				mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGTGACTTTGCGGGAGAACTG	0.502													T	43783268	C	T	43783268	3	4	582	1	0	0	0	0	1	0	0	0	15993	768	27	1	2716	1	TIE1	1	43783268	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	4452898	43783268	205467353	2	48963											
SCN1A	6323	broad.mit.edu	37	chr2	166897764	166897764	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttcctactgtaagcacatTattgaaatggtccgtcattg	10	15	8	8	1	1	1	1	1	0	0	3	1	3	1	2	1	2	3	2	1	4	6			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:166897764T>A	ENST00000423058.2	-	13	2409	c.2392A>T	c.(2392-2394)Aat>Tat	p.N798Y	AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.N770Y|SCN1A_ENST00000303395.4_Missense_Mutation_p.N798Y|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.N787Y	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	798						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)	GTAAGCACATTATTGAAATGG	0.363													A	166897764	T	A	166897764	3	1	582	1	0	0	0	0	1	0	0	0	14007	1754	61	5	3693	5	SCN1A	2	166897764	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		166897764	76301609	3	48964											
TTN	7273	broad.mit.edu	37	chr2	179585690	179585690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggcgtcaccaacacCattatgagcctcacaaatgt	12	8	8	13	1	2	1	2	1	0	0	2	1	2	1	3	1	3	2	3	1	3	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:179585690C>A	ENST00000589042.1	-	79	23280	c.23056G>T	c.(23056-23058)Ggt>Tgt	p.G7686C	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6442C|TTN_ENST00000591111.1_Missense_Mutation_p.G7369C|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	7369	Ig-like 59.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCACCAACACCATTATGAGCC	0.433													A	179585690	C	A	179585690	3	1	582	1	0	0	0	0	1	0	0	0	16837	594	21	4	81609	4	TTN	2	179585690	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	12687926	179585690	63613683	4	48965											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	582	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	29527422	209113112	34086261	5	48966											
TRANK1	9881	broad.mit.edu	37	chr3	36875229	36875229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtctgcagcttctgctaAgcgtttccgagacttcaaga	9	11	10	11	2	3	2	1	0	2	2	4	3	4	2	1	1	4	4	1	1	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:36875229A>G	ENST00000301807.6	-	21	5960	c.4063T>C	c.(4063-4065)Tta>Cta	p.L1355L	TRANK1_ENST00000428977.2_Silent_p.L1355L|TRANK1_ENST00000429976.2_Silent_p.L1905L			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1905					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						GCTTCTGCTAAGCGTTTCCGA	0.512													G	36875229	A	G	36875229	2	3	582	1	0	0	0	0	0	0	0	1	16555	69	3	3		3	TRANK1	3	36875229	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08		36875229	161147201	6	48967											
ITIH3	3699	broad.mit.edu	37	chr3	52836815	52836815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcaccattgagcagctgctgGagaagcggtgagcagagtcc	10	7	14	10	1	1	4	1	2	0	2	2	5	2	4	2	2	5	4	2	2	1	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr3:52836815G>A	ENST00000449956.2	+	13	1708	c.1702G>A	c.(1702-1704)Gag>Aag	p.E568K	ITIH3_ENST00000416872.2_Intron	NM_002217.3	NP_002208.3	Q06033	ITIH3_HUMAN	inter-alpha-trypsin inhibitor heavy chain 3	568					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|liver(1)|lung(6)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		GCAGCTGCTGGAGAAGCGGTG	0.622													A	52836815	G	A	52836815	3	1	582	1	0	0	0	0	1	0	0	0	7963	1175	41	2	1752	2	ITIH3	3	52836815	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	15961586	52836815	145185615	7	48968											
NKX3-2	579	broad.mit.edu	37	chr4	13543758	13543758	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtattgtctctggtcgtcGcgcaccagcacctttacggc	6	11	11	13	4	1	0	0	0	1	0	4	0	1	0	2	3	2	3	2	3	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:13543758G>C	ENST00000382438.5	-	2	1496	c.861C>G	c.(859-861)cgC>cgG	p.R287R		NM_001189.3	NP_001180.1	P78367	NKX32_HUMAN	NK3 homeobox 2	287					negative regulation of chondrocyte differentiation|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|large_intestine(1)|lung(4)|prostate(1)	7						TCTGGTCGTCGCGCACCAGCA	0.647													C	13543758	G	C	13543758	2	2	582	1	0	0	0	0	0	0	0	1	10532	1074	38	4		4	NKX3-2	4	13543758	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		13543758	177610518	8	48969											
RBPJ	3516	broad.mit.edu	37	chr4	26432517	26432517	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagcaatccttcgagccaAttcaagccaggtgcccccta	11	7	9	14	1	1	0	1	0	0	0	3	2	2	1	5	2	4	1	5	2	4	3	rs1064404		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:26432517A>G	ENST00000342320.4	+	11	1525	c.1349A>G	c.(1348-1350)aAt>aGt	p.N450S	RBPJ_ENST00000504907.1_3'UTR|RBPJ_ENST00000361572.6_Missense_Mutation_p.N464S|RBPJ_ENST00000348160.4_Missense_Mutation_p.N451S|RBPJ_ENST00000355476.3_Missense_Mutation_p.N450S|RBPJ_ENST00000345843.3_Missense_Mutation_p.N449S|RBPJ_ENST00000342295.1_Missense_Mutation_p.N464S|RBPJ_ENST00000507561.1_Missense_Mutation_p.N429S			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	464					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CTTCGAGCCAATTCAAGCCAG	0.498													G	26432517	A	G	26432517	3	3	582	1	0	0	0	0	1	0	0	0	13249	101	4	3	1496	3	RBPJ	4	26432517	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	12888759	26432517	164721759	9	48970											
FAT4	79633	broad.mit.edu	37	chr4	126239282	126239282	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcccagcttgtagtaactctCctagatgtgaatgatgaaaa	13	11	9	8	0	1	4	0	3	1	1	2	4	1	4	2	0	2	3	2	0	6	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:126239282C>G	ENST00000394329.3	+	1	1729	c.1716C>G	c.(1714-1716)ctC>ctG	p.L572L		NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	572	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAGTAACTCTCCTAGATGTGA	0.498											OREG0016317	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	126239282	C	G	126239282	2	3	582	1	0	0	0	0	0	0	0	1	5741	842	30	4		4	FAT4	4	126239282	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	99806765	126239282	64914994	10	48971											
DCLK2	166614	broad.mit.edu	37	chr4	151153981	151153981	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaaaccagagaatctcttgGtatgtcatccctgctttttc	9	15	6	11	0	3	1	2	0	1	1	6	2	4	1	2	1	2	2	2	1	3	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr4:151153981G>A	ENST00000296550.7	+	10	2320		c.e10+1		DCLK2_ENST00000506325.1_Splice_Site|DCLK2_ENST00000302176.8_Splice_Site	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2						intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GAATCTCTTGGTATGTCATCC	0.438													A	151153981	G	A	151153981	5	1	582	1	0	0	0	0	0	0	1	0	4326	1275	44	2	1605	2	DCLK2	4	151153981	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	24914699	151153981	40000295	11	48972											
CRHBP	1393	broad.mit.edu	37	chr5	76259212	76259212	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataggagactttgtggagctGctgggaggaactggattgga	10	10	17	4	0	0	1	0	0	0	1	0	7	0	6	0	6	3	2	0	6	2	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:76259212G>A	ENST00000274368.4	+	6	1160	c.738G>A	c.(736-738)ctG>ctA	p.L246L	CRHBP_ENST00000514258.1_3'UTR	NM_001882.3	NP_001873.2	P24387	CRHBP_HUMAN	corticotropin releasing hormone binding protein	246					female pregnancy|learning or memory|signal transduction	soluble fraction				kidney(3)|large_intestine(4)|lung(6)|prostate(1)|skin(2)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-51)|Epithelial(54;8.79e-46)|all cancers(79;2.49e-41)		TTGTGGAGCTGCTGGGAGGAA	0.458													A	76259212	G	A	76259212	2	1	582	1	0	0	0	0	0	0	0	1	3901	1306	46	2		2	CRHBP	5	76259212	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		76259212	104656048	12	48973											
PCDHB3	56132	broad.mit.edu	37	chr5	140480508	140480508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgaatgagaaattggaccGggaggagctatgcggcccca	11	6	14	10	2	0	2	0	2	0	1	0	6	0	5	4	4	2	1	4	4	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:140480508G>A	ENST00000231130.2	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		92	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGGACCGGGAGGAGCTA	0.483													A	140480508	G	A	140480508	3	1	582	1	0	0	0	0	1	0	0	0	11619	1116	39	1	277	1	PCDHB3	5	140480508	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	64221296	140480508	40434752	13	48974											
LSM11	134353	broad.mit.edu	37	chr5	157178479	157178479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgttcacatccgcactttcaAgggacttcggggcgtctgta	7	12	11	11	3	3	0	2	0	1	0	5	1	4	1	1	3	0	3	1	3	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr5:157178479A>G	ENST00000286307.5	+	2	586	c.530A>G	c.(529-531)aAg>aGg	p.K177R		NM_173491.2	NP_775762.1	P83369	LSM11_HUMAN	LSM11, U7 small nuclear RNA associated	177	SM 1.				histone mRNA 3'-end processing|S phase of mitotic cell cycle|termination of RNA polymerase II transcription	histone pre-mRNA 3'end processing complex|nucleoplasm|U7 snRNP	protein binding|U7 snRNA binding			breast(1)|kidney(1)|large_intestine(2)|lung(2)|prostate(1)	7	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CGCACTTTCAAGGGACTTCGG	0.507													G	157178479	A	G	157178479	3	3	582	1	0	0	0	0	1	0	0	0	9122	72	3	3	536	3	LSM11	5	157178479	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	16697971	157178479	23736781	14	48975											
CRISP1	167	broad.mit.edu	37	chr6	49814258	49814258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtggtcagtagttatgTcatcatccgttgttgtccat	7	17	10	7	1	3	0	3	0	0	0	5	0	5	0	2	1	0	5	2	1	3	5			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:49814258T>C	ENST00000335847.4	-	5	511	c.410A>G	c.(409-411)gAc>gGc	p.D137G	CRISP1_ENST00000507853.1_Missense_Mutation_p.D137G|CRISP1_ENST00000505118.1_Missense_Mutation_p.D137G|CRISP1_ENST00000355791.2_Missense_Mutation_p.D137G|CRISP1_ENST00000536021.1_Missense_Mutation_p.D137G|CRISP1_ENST00000329411.5_Missense_Mutation_p.D137G	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	137					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					AGTAGTTATGTCATCATCCGT	0.403													C	49814258	T	C	49814258	3	2	582	1	0	0	0	0	1	0	0	0	3910	1667	58	3	355	3	CRISP1	6	49814258	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		49814258	121300809	15	48976											
TINAG	27283	broad.mit.edu	37	chr6	54254705	54254705	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcttggggccaactgacGagttctgatgaaccataaca	12	8	11	10	1	1	3	0	3	1	0	1	4	1	3	2	2	4	3	2	2	3	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:54254705G>A	ENST00000259782.4	+	11	1509	c.1413G>A	c.(1411-1413)acG>acA	p.T471T		NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	471					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			GCCAACTGACGAGTTCTGATG	0.408													A	54254705	G	A	54254705	2	1	582	1	0	0	0	0	0	0	0	1	16021	1045	37	1		1	TINAG	6	54254705	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08	4440447	54254705	116860362	16	48977											
C6orf165	154313	broad.mit.edu	37	chr6	88125415	88125415	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caattttagtggaatttctcGaagaacatcaccgggtccta	12	12	8	9	2	2	1	1	0	1	1	4	3	3	2	2	2	1	0	2	2	6	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:88125415G>A	ENST00000507897.1	+	5	378	c.295G>A	c.(295-297)Gaa>Aaa	p.E99K	C6ORF165_ENST00000369562.4_Missense_Mutation_p.E99K			Q8IYR0	CF165_HUMAN	chromosome 6 open reading frame 165	99										NS(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		all_cancers(76;3.93e-06)|Acute lymphoblastic leukemia(125;3.55e-10)|Prostate(29;3.51e-09)|all_hematologic(105;3.29e-06)|all_epithelial(107;0.00575)		BRCA - Breast invasive adenocarcinoma(108;0.0419)		GGAATTTCTCGAAGAACATCA	0.363													A	88125415	G	A	88125415	3	1	582	1	0	0	0	0	1	0	0	0	2363	1059	37	1	309	1	C6orf165	6	88125415	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	33870710	88125415	82989652	17	48978											
TBP	6908	broad.mit.edu	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcaacagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0	rs10592950		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000540980.1_Silent_p.Q52Q|TBP_ENST00000230354.6_Silent_p.Q72Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567													G	170871040	A	G	170871040	2	3	582	1	0	0	0	0	0	0	0	1	15744	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-HT-8106-01A-11D-2395-08	82745625	170871040	244027	18	48979											
MUC17	140453	broad.mit.edu	37	chr7	100679992	100679992	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgccggtactcagttctgaGgctagcaccctttcagcaac	9	9	9	14	2	3	1	2	1	1	0	3	1	3	1	2	2	4	5	2	2	3	4	rs148096926	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr7:100679992G>T	ENST00000306151.4	+	3	5359	c.5295G>T	c.(5293-5295)gaG>gaT	p.E1765D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1765	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)					TCAGTTCTGAGGCTAGCACCC	0.502													T	100679992	G	T	100679992	3	4	582	1	0	0	0	0	1	0	0	0	10050	991	35	4	5305	4	MUC17	7	100679992	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		100679992	58458671	19	48980											
ST18	9705	broad.mit.edu	37	chr8	53079464	53079464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgaaaggctgcggtggtgCgggtagagccctgtcacgtg	6	7	17	11	4	1	1	1	0	0	1	1	2	1	1	2	4	3	2	2	4	2	1	rs73587538	by1000genomes	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:53079464C>T	ENST00000276480.7	-	11	1835	c.1152G>A	c.(1150-1152)ccG>ccA	p.P384P		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)	384						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGCGGTGGTGCGGGTAGAGCC	0.557													T	53079464	C	T	53079464	2	4	582	1	0	0	0	0	0	0	0	1	15308	755	27	1		1	ST18	8	53079464	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08		53079464	93284558	20	48981											
NCOA2	10499	broad.mit.edu	37	chr8	71044226	71044226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcaagtcatctggagaactgCcaaatggctgcctgtaaaga	13	8	11	9	0	2	2	1	0	1	2	2	3	2	2	2	2	3	3	2	2	5	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr8:71044226C>T	ENST00000452400.2	-	16	3351	c.3170G>A	c.(3169-3171)gGc>gAc	p.G1057D	NCOA2_ENST00000267974.4_Missense_Mutation_p.G145D	NM_006540.2	NP_006531.1	Q15596	NCOA2_HUMAN	nuclear receptor coactivator 2	1057					cellular lipid metabolic process|transcription, DNA-dependent	nucleoplasm	histone acetyltransferase activity|ligand-dependent nuclear receptor binding|nuclear hormone receptor binding|signal transducer activity		PAX3/NCOA2(4)|HEY1/NCOA2(10)	NS(1)|breast(4)|endometrium(7)|kidney(4)|large_intestine(10)|lung(25)|ovary(1)|pancreas(2)|prostate(2)|skin(4)	60	Breast(64;0.201)		Epithelial(68;0.0147)|OV - Ovarian serous cystadenocarcinoma(28;0.0455)|all cancers(69;0.0606)			TGGAGAACTGCCAAATGGCTG	0.453			T	"RUNXBP2, HEY1"	"AML, Chondrosarcoma"								T	71044226	C	T	71044226	3	4	582	1	0	0	0	0	1	0	0	0	10305	739	26	2	1256	2	NCOA2	8	71044226	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	17964762	71044226	75319796	21	48982											
ROR2	4920	broad.mit.edu	37	chr9	94486641	94486641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggacagtcatcggggcaaGgcagcacctgccggttccgg	7	5	16	13	4	1	0	1	0	0	0	3	1	2	1	3	6	2	4	3	6	1	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:94486641G>A	ENST00000375708.3	-	9	2333	c.2135C>T	c.(2134-2136)cCt>cTt	p.P712L	ROR2_ENST00000375715.1_Missense_Mutation_p.P572L|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	712	Protein kinase.				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCGGGGCAAGGCAGCACCTG	0.642													A	94486641	G	A	94486641	3	1	582	1	0	0	0	0	1	0	0	0	13618	1000	35	2	700	2	ROR2	9	94486641	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		94486641	46726790	22	48983											
RNF183	138065	broad.mit.edu	37	chr9	116060197	116060197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggccttccaggatgacatGgtggggctccaggcggagca	8	7	16	10	1	0	1	0	1	0	0	2	3	2	3	3	7	1	2	3	7	0	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:116060197G>A	ENST00000478815.1	-	1	1848	c.268C>T	c.(268-270)Cat>Tat	p.H90Y	RNF183_ENST00000441031.3_Missense_Mutation_p.H90Y|RNF183_ENST00000416588.2_Missense_Mutation_p.H90Y|RNF183_ENST00000297894.5_Missense_Mutation_p.H90Y			Q96D59	RN183_HUMAN	ring finger protein 183	90						integral to membrane	zinc ion binding			lung(1)|prostate(1)|skin(1)	3						AGGATGACATGGTGGGGCTCC	0.652													A	116060197	G	A	116060197	3	1	582	1	0	0	0	0	1	0	0	0	13558	1348	47	2	314	2	RNF183	9	116060197	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	21573556	116060197	25153234	23	48984											
GAPVD1	26130	broad.mit.edu	37	chr9	128094894	128094894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactagtccagacatggAtgaaataactcacggtaaga	15	9	9	8	1	2	3	2	1	0	2	3	4	3	4	1	2	1	1	1	2	4	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:128094894A>G	ENST00000470056.1	+	13	2574	c.2414A>G	c.(2413-2415)gAt>gGt	p.D805G	GAPVD1_ENST00000394083.2_Missense_Mutation_p.D784G|GAPVD1_ENST00000495955.1_Missense_Mutation_p.D805G|GAPVD1_ENST00000312123.9_Missense_Mutation_p.D784G|GAPVD1_ENST00000265956.4_Missense_Mutation_p.D805G|GAPVD1_ENST00000394105.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000394104.2_Missense_Mutation_p.D805G|GAPVD1_ENST00000297933.6_Missense_Mutation_p.D805G			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	805					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						CCAGACATGGATGAAATAACT	0.448													G	128094894	A	G	128094894	3	3	582	1	0	0	0	0	1	0	0	0	6293	333	12	3	2460	3	GAPVD1	9	128094894	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	12034697	128094894	13118537	24	48985											
MAN1B1	11253	broad.mit.edu	37	chr9	139996094	139996094	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagctggagttccgggagctCtcccgtctcacaggggataa	8	8	13	12	2	2	0	1	0	2	0	5	3	3	3	2	4	2	3	2	4	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr9:139996094C>T	ENST00000371589.4	+	8	1297	c.1224C>T	c.(1222-1224)ctC>ctT	p.L408L	MAN1B1_ENST00000474902.1_Silent_p.L111L	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	408					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|endoplasmic reticulum quality control compartment|integral to membrane	alpha-mannosidase activity|calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		TCCGGGAGCTCTCCCGTCTCA	0.597													T	139996094	C	T	139996094	2	4	582	1	0	0	0	0	0	0	0	1	9287	900	32	2		2	MAN1B1	9	139996094	Silent	SNP	C	TCGA-HT-8106-01A-11D-2395-08	11901200	139996094	1217337	25	48986											
EBF3	253738	broad.mit.edu	37	chr10	131671806	131671806	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgttgtgcacaaacatgtTgtctgacacggccagcacgt	10	11	10	10	2	1	1	0	1	1	0	1	1	1	1	1	1	3	4	1	1	1	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:131671806T>G	ENST00000368648.3	-	8	763	c.691A>C	c.(691-693)Aac>Cac	p.N231H	EBF3_ENST00000355311.5_Missense_Mutation_p.N231H	NM_001005463.2	NP_001005463.1	Q9H4W6	COE3_HUMAN	early B-cell factor 3	231					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|metal ion binding|protein binding			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	44		all_cancers(35;1.8e-08)|all_epithelial(44;8.26e-08)|Lung NSC(174;0.0091)|all_lung(145;0.0123)|Breast(234;0.039)|all_neural(114;0.0722)|Colorectal(57;0.0764)		OV - Ovarian serous cystadenocarcinoma(35;0.00513)		ACAAACATGTTGTCTGACACG	0.512													G	131671806	T	G	131671806	3	3	582	1	0	0	0	0	1	0	0	0	4921	1812	63	5	1000	5	EBF3	10	131671806	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08		131671806	3862941	26	48987											
JAKMIP3	282973	broad.mit.edu	37	chr10	133967332	133967332	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggatctggagagcgagaagGttggtggcaccttcaccgag	9	8	16	8	2	2	2	1	0	1	2	2	6	2	3	2	5	1	2	2	5	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr10:133967332G>T	ENST00000298622.4	+	17	2274		c.e17+1		JAKMIP3_ENST00000477275.1_Splice_Site	NM_001105521.2	NP_001098991.1			Janus kinase and microtubule interacting protein 3											breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GAGCGAGAAGGTTGGTGGCAC	0.592													T	133967332	G	T	133967332	5	4	582	1	0	0	0	0	0	0	1	0	8000	1275	44	4	2203	4	JAKMIP3	10	133967332	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08	2295526	133967332	1567415	27	48988											
TH	7054	broad.mit.edu	37	chr11	2190969	2190969	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cacggccttcccctccttctCctcaaaggccacagcctcca	7	8	5	21	1	2	0	1	0	1	0	6	0	5	0	8	2	1	0	8	2	1	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:2190969C>T	ENST00000381178.1	-	3	334	c.316G>A	c.(316-318)Gag>Aag	p.E106K	TH_ENST00000333684.5_Missense_Mutation_p.E79K|TH_ENST00000381175.1_Missense_Mutation_p.E102K|TH_ENST00000352909.3_Missense_Mutation_p.E75K	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	106					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	CCCTCCTTCTCCTCAAAGGCC	0.692													T	2190969	C	T	2190969	3	4	582	1	0	0	0	0	1	0	0	0	15938	864	30	2	1318	2	TH	11	2190969	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		2190969	132815547	28	48989											
MMP26	56547	broad.mit.edu	37	chr11	5012621	5012621	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccatgaagatggttggcccTttgatgggccaggtggtatc	7	11	14	9	0	0	3	0	2	0	1	1	3	0	3	3	5	0	2	3	5	2	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:5012621T>A	ENST00000380390.1	+	5	706	c.490T>A	c.(490-492)Ttt>Att	p.F164I	MMP26_ENST00000300762.1_Missense_Mutation_p.F164I			Q9NRE1	MMP26_HUMAN	matrix metallopeptidase 26	164					collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(11)|pancreas(1)|skin(3)|stomach(1)	22		Medulloblastoma(188;0.0025)|Breast(177;0.0204)|all_neural(188;0.0227)		Epithelial(150;1.33e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0287)|LUSC - Lung squamous cell carcinoma(625;0.191)		TGGTTGGCCCTTTGATGGGCC	0.463													A	5012621	T	A	5012621	3	1	582	1	0	0	0	0	1	0	0	0	9739	1609	56	5	504	5	MMP26	11	5012621	Missense_Mutation	SNP	T	TCGA-HT-8106-01A-11D-2395-08	2821652	5012621	129993895	29	48990											
BEST1	7439	broad.mit.edu	37	chr11	61724345	61724345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccggcagaacacaagcagTtggagaaactgagcctacca	14	5	10	12	1	0	3	0	1	0	2	1	4	1	3	3	2	5	3	3	2	4	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr11:61724345T>C	ENST00000449131.2	+	4	417	c.331T>C	c.(331-333)Ttg>Ctg	p.L111L	BEST1_ENST00000378043.4_Silent_p.L171L|BEST1_ENST00000378042.3_Silent_p.L111L|BEST1_ENST00000435278.2_Silent_p.L171L|BEST1_ENST00000534553.1_Intron|BEST1_ENST00000301774.9_Intron|BEST1_ENST00000526988.1_Silent_p.L65L	NM_001139443.1	NP_001132915.1	O76090	BEST1_HUMAN	bestrophin 1	171					response to stimulus|transepithelial chloride transport|visual perception	basolateral plasma membrane|chloride channel complex|cytosol|membrane fraction	chloride channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|prostate(1)|skin(2)|urinary_tract(2)	25						ACACAAGCAGTTGGAGAAACT	0.577													C	61724345	T	C	61724345	2	2	582	1	0	0	0	0	0	0	0	1	1409	1722	60	3		3	BEST1	11	61724345	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	56711724	61724345	73282171	30	48991											
GALNT6	11226	broad.mit.edu	37	chr12	51751986	51751986	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtgcaggtaccaggaaaaGttgtgacagtgcagttgttc	10	12	13	6	0	0	1	0	1	0	0	1	2	0	2	1	2	3	6	1	2	3	5			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:51751986G>T	ENST00000543196.2	-	8	1633	c.1428C>A	c.(1426-1428)aaC>aaA	p.N476K	GALNT6_ENST00000356317.3_Missense_Mutation_p.N476K			Q8NCL4	GALT6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)	476					protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						ACCAGGAAAAGTTGTGACAGT	0.517													T	51751986	G	T	51751986	3	4	582	1	0	0	0	0	1	0	0	0	6271	1020	36	4	456	4	GALNT6	12	51751986	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		51751986	82099909	31	48992											
STAB2	55576	broad.mit.edu	37	chr12	104099417	104099417	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatatttcacagggtaatgAgaagaggagatgcatctata	16	11	10	4	0	2	3	1	1	1	3	2	5	2	3	0	2	1	2	0	2	6	6			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr12:104099417A>G	ENST00000388887.2	+	37	4112	c.3908A>G	c.(3907-3909)gAg>gGg	p.E1303G		NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	1303					angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						CAGGGTAATGAGAAGAGGAGA	0.428													G	104099417	A	G	104099417	3	3	582	1	0	0	0	0	1	0	0	0	15334	304	11	3	4054	3	STAB2	12	104099417	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	52347431	104099417	29752478	32	48993											
PCDH20	64881	broad.mit.edu	37	chr13	61987072	61987072	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gggactccagaacacttcctCcaatcttactgaaaagttta	13	11	6	11	0	1	2	0	1	1	1	4	3	4	3	3	1	2	1	3	1	6	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:61987072C>T	ENST00000409186.1	-	5	3265	c.1160G>A	c.(1159-1161)gGa>gAa	p.G387E	PCDH20_ENST00000409204.4_Missense_Mutation_p.G387E			Q8N6Y1	PCD20_HUMAN	protocadherin 20	360	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(14)|liver(1)|lung(23)|ovary(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	58		Breast(118;0.195)|Prostate(109;0.229)		GBM - Glioblastoma multiforme(99;0.000118)		AACACTTCCTCCAATCTTACT	0.398													T	61987072	C	T	61987072	3	4	582	1	0	0	0	0	1	0	0	0	11591	855	30	2	1699	2	PCDH20	13	61987072	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08		61987072	53182806	33	48994											
MYCBP2	23077	broad.mit.edu	37	chr13	77862494	77862494	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatctggtatgattactgtAttctctaagttttcagactg	10	18	7	6	0	3	2	1	1	2	1	4	2	3	2	0	1	1	3	0	1	5	8			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr13:77862494A>T	ENST00000407578.2	-	3	662	c.396T>A	c.(394-396)aaT>aaA	p.N132K	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.N94K|MYCBP2_ENST00000357337.6_Missense_Mutation_p.N94K	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	94					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		TGATTACTGTATTCTCTAAGT	0.323													T	77862494	A	T	77862494	3	4	582	1	0	0	0	0	1	0	0	0	10094	446	16	5	13964	5	MYCBP2	13	77862494	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08	15875422	77862494	37307384	34	48995											
AGBL1	123624	broad.mit.edu	37	chr15	86838484	86838484	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctttatttctgctccAgactcatcttgacatcctgg	6	15	7	13	0	3	2	1	1	2	1	5	2	5	2	3	1	2	2	3	1	1	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr15:86838484A>C	ENST00000441037.2	+	16	2177		c.e16-1		AGBL1_ENST00000389298.3_Splice_Site|AGBL1_ENST00000421325.2_Splice_Site	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1						C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TTTCTGCTCCAGACTCATCTT	0.398													C	86838484	A	C	86838484	5	2	582	1	0	0	0	0	0	0	1	0	375	202	7	5	2139	5	AGBL1	15	86838484	Splice_Site	SNP	A	TCGA-HT-8106-01A-11D-2395-08		86838484	15692908	35	48996											
CIITA	4261	broad.mit.edu	37	chr16	11002910	11002910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccttgagcgacacggtggcGctgtgggagtccctgcagca	6	7	16	12	3	0	1	0	1	0	0	1	3	1	2	2	3	3	3	2	3	0	1	rs148091568	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr16:11002910G>A	ENST00000324288.8	+	12	2815	c.2682G>A	c.(2680-2682)gcG>gcA	p.A894A	CIITA_ENST00000537380.1_Intron|CIITA_ENST00000381835.5_Silent_p.A310A	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	894					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|response to antibiotic|transcription, DNA-dependent	nucleus	activating transcription factor binding|ATP binding|protein C-terminus binding|protein complex binding|transcription coactivator activity|transcription regulatory region DNA binding	p.A894A(1)		central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						ACACGGTGGCGCTGTGGGAGT	0.602			T	"FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"	"PMBL, Hodgkin Lymphona, "								A	11002910	G	A	11002910	2	1	582	1	0	0	0	0	0	0	0	1	3458	1074	38	1		1	CIITA	16	11002910	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		11002910	79351843	36	48997											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			A	7577022	G	A	7577022	4	1	582	1	0	0	0	0	0	1	0	0	16482	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08		7577022	73618188	37	48998											
MYOCD	93649	broad.mit.edu	37	chr17	12655919	12655919	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattaccagtcttcctcttcTaccagtgccctgtccaacgg	8	12	6	15	1	3	0	0	0	3	0	5	0	5	0	5	1	4	0	5	1	4	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:12655919T>A	ENST00000425538.1	+	10	1514	c.1314T>A	c.(1312-1314)tcT>tcA	p.S438S	MYOCD_ENST00000343344.4_Silent_p.S438S|MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.S342S	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	438	Ser-rich.				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CTTCCTCTTCTACCAGTGCCC	0.582													A	12655919	T	A	12655919	2	1	582	1	0	0	0	0	0	0	0	1	10163	1509	53	5		5	MYOCD	17	12655919	Silent	SNP	T	TCGA-HT-8106-01A-11D-2395-08	5078897	12655919	68539291	38	48999											
MAPK7	5598	broad.mit.edu	37	chr17	19285244	19285244	+	Frame_Shift_Del	DEL	G	G	-																															ggagcgggagcgaaaggaacGgggggctggggcctctgggg																										TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:19285244delG	ENST00000308406.5	+	5	2014	c.1628delG	c.(1627-1629)cggfs	p.R543fs	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395604.3_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000395602.4_Frame_Shift_Del_p.R543fs|MAPK7_ENST00000299612.7_Frame_Shift_Del_p.R404fs	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	543	Arg-rich.|May not be required for kinase activity; required to stimulate MEF2C activity (By similarity).|Pro-rich.				cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					cgaaaggaacggggggctggg	0.677													-	19285244	G	-	19285244	7	5	582	1	0	1	0	1	0	0	0	0	9357	1116	39	0	1642	0	MAPK7	17	19285244	Frame_Shift_Del	DEL	G	TCGA-HT-8106-01A-11D-2395-08	6629325	19285244	61909966	39	49000											
DDX52	11056	broad.mit.edu	37	chr17	35974371	35974371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcttcaagagctactttcttCttgctgttctgaccagtgac	7	16	7	11	0	5	3	1	2	4	1	5	3	5	3	1	0	3	3	1	0	2	6			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:35974371C>G	ENST00000349699.2	-	15	1813	c.1770G>C	c.(1768-1770)aaG>aaC	p.K590N	DDX52_ENST00000394367.3_Missense_Mutation_p.K482N	NM_007010.3	NP_008941.2	Q9Y2R4	DDX52_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 52	590	Lys-rich.					nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			biliary_tract(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(5)|ovary(1)|skin(3)	17		Breast(25;0.00637)|Ovarian(249;0.15)				CTACTTTCTTCTTGCTGTTCT	0.323													G	35974371	C	G	35974371	3	3	582	1	0	0	0	0	1	0	0	0	4404	912	32	4	33	4	DDX52	17	35974371	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	16689127	35974371	45220839	40	49001											
GAST	2520	broad.mit.edu	37	chr17	39871798	39871798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agatgcacccttaggtacagGggccaacagggacctggagc	11	5	14	11	0	0	1	0	0	0	1	0	3	0	3	3	5	4	2	3	5	3	2			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:39871798G>A	ENST00000329402.3	+	2	177	c.110G>A	c.(109-111)gGg>gAg	p.G37E	JUP_ENST00000540235.1_Intron	NM_000805.4	NP_000796.1	P01350	GAST_HUMAN	gastrin	37						extracellular region	hormone activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7		Breast(137;0.000307)	BRCA - Breast invasive adenocarcinoma(4;0.0677)			TTAGGTACAGGGGCCAACAGG	0.627													A	39871798	G	A	39871798	3	1	582	1	0	0	0	0	1	0	0	0	6306	1232	43	2	112	2	GAST	17	39871798	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	3897427	39871798	41323412	41	49002											
GFAP	2670	broad.mit.edu	37	chr17	42989133	42989133	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctggcggagcagctccgcGttgcgggcagcagcgtctgt	4	7	17	13	5	1	0	0	0	1	0	2	1	2	1	2	3	5	5	2	3	0	1			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr17:42989133G>C	ENST00000253408.5	-	5	878	c.813C>G	c.(811-813)aaC>aaG	p.N271K	GFAP_ENST00000588735.1_Intron|GFAP_ENST00000586793.1_Missense_Mutation_p.N271K|GFAP_ENST00000435360.2_Missense_Mutation_p.N271K	NM_002055.4	NP_002046.1	P14136	GFAP_HUMAN	glial fibrillary acidic protein	271	Coil 2B.|Rod.					cytoplasm|intermediate filament	structural constituent of cytoskeleton			endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(11)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	23		Prostate(33;0.0959)				GCAGCTCCGCGTTGCGGGCAG	0.662													C	42989133	G	C	42989133	3	2	582	1	0	0	0	0	1	0	0	0	6393	1136	40	4	634	4	GFAP	17	42989133	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	3117335	42989133	38206077	42	49003											
ASXL3	80816	broad.mit.edu	37	chr18	31323665	31323665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataagcatgttaaaaaccAtccagggaactgacactcca	17	8	6	10	0	0	1	0	1	0	0	2	2	2	2	3	1	3	2	3	1	6	3			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr18:31323665A>G	ENST00000269197.5	+	12	3853	c.3853A>G	c.(3853-3855)Atc>Gtc	p.I1285V		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1285	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						GTTAAAAACCATCCAGGGAAC	0.408													G	31323665	A	G	31323665	3	3	582	1	0	0	0	0	1	0	0	0	1073	217	8	3	3899	3	ASXL3	18	31323665	Missense_Mutation	SNP	A	TCGA-HT-8106-01A-11D-2395-08		31323665	46753583	43	49004											
MUC16	94025	broad.mit.edu	37	chr19	9069935	9069935	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtttctgtggagatgtaGggtgacattttggaatgatc	9	15	14	3	0	1	3	0	2	1	1	2	5	1	4	0	4	0	2	0	4	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:9069935G>T	ENST00000397910.4	-	3	17714	c.17511C>A	c.(17509-17511)ccC>ccA	p.P5837P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5839	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						TGGAGATGTAGGGTGACATTT	0.473													T	9069935	G	T	9069935	2	4	582	1	0	0	0	0	0	0	0	1	10049	987	35	4		4	MUC16	19	9069935	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		9069935	50059048	44	49005											
FFAR2	2867	broad.mit.edu	37	chr19	35941277	35941277	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagaggcggcgccgagccGtggggctggctgtggtgacg	4	5	20	12	5	0	2	0	1	0	1	0	3	0	2	3	6	1	2	3	6	0	0	rs61746520	byFrequency	TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:35941277G>A	ENST00000599180.2	+	2	741	c.661G>A	c.(661-663)Gtg>Atg	p.V221M	FFAR2_ENST00000246549.2_Missense_Mutation_p.V221M|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GCGCCGAGCCGTGGGGCTGGC	0.602													A	35941277	G	A	35941277	3	1	582	1	0	0	0	0	1	0	0	0	5877	1145	40	1	663	1	FFAR2	19	35941277	Missense_Mutation	SNP	G	TCGA-HT-8106-01A-11D-2395-08	26871342	35941277	23187706	45	49006											
BCAM	4059	broad.mit.edu	37	chr19	45322041	45322041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccccatgctgtcgctcagttCtatcaccttcgattccaatg	7	13	6	15	2	3	0	2	0	1	0	6	1	4	0	4	0	1	3	4	0	2	4			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr19:45322041C>T	ENST00000589651.1	+	10	1292	c.1238C>T	c.(1237-1239)tCt>tTt	p.S413F	BCAM_ENST00000270233.6_Missense_Mutation_p.S413F			P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)		Ig-like C2-type 2.				cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity	p.S413F(1)		central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				TCGCTCAGTTCTATCACCTTC	0.627													T	45322041	C	T	45322041	3	4	582	1	0	0	0	0	1	0	0	0	1349	913	32	2	1276	2	BCAM	19	45322041	Missense_Mutation	SNP	C	TCGA-HT-8106-01A-11D-2395-08	9380764	45322041	13806942	46	49007											
RBPJL	11317	broad.mit.edu	37	chr20	43945326	43945326	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccctggtgctccacccccagGagcccgcggtccctggtgtg	3	7	13	18	2	0	0	0	0	0	0	2	1	2	1	6	4	2	1	6	4	0	0			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr20:43945326G>A	ENST00000343694.3	+	12	1353	c.1281G>A	c.(1279-1281)agG>agA	p.R427R	RBPJL_ENST00000372743.1_Intron|RBPJL_ENST00000464504.1_3'UTR|RBPJL_ENST00000372741.3_Splice_Site_p.E431K	NM_001281448.1|NM_001281449.1|NM_014276.2	NP_001268377.1|NP_001268378.1|NP_055091.2	Q9UBG7	RBPJL_HUMAN	recombination signal binding protein for immunoglobulin kappa J region-like	427	IPT/TIG.				signal transduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Myeloproliferative disorder(115;0.0122)				CCACCCCCAGGAGCCCGCGGT	0.726													A	43945326	G	A	43945326	5	1	582	1	0	0	0	0	0	0	1	0	13250	1188	41	2	1327	2	RBPJL	20	43945326	Splice_Site	SNP	G	TCGA-HT-8106-01A-11D-2395-08		43945326	19080194	47	49008											
SMC1B	27127	broad.mit.edu	37	chr22	45779410	45779410	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttaactctttctcatcccaGcatctagccttgtattttaa	9	18	3	11	0	3	0	1	0	3	0	5	0	4	0	2	0	3	2	2	0	4	8			TCGA-HT-8106-01A-11D-2395-08	TCGA-HT-8106-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	eda36bc8-66a9-4901-95f4-d98528290e84	dfb6bde7-00dc-4892-a8e2-a111cff05939	g.chr22:45779410G>A	ENST00000357450.4	-	12	1994	c.1995C>T	c.(1993-1995)tgC>tgT	p.C665C	SMC1B_ENST00000404354.3_Silent_p.C665C	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	665	Flexible hinge.				chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TCTCATCCCAGCATCTAGCCT	0.343													A	45779410	G	A	45779410	2	1	582	1	0	0	0	0	0	0	0	1	14876	963	34	2		2	SMC1B	22	45779410	Silent	SNP	G	TCGA-HT-8106-01A-11D-2395-08		45779410	5525156	48	49009											
SPEG	10290	broad.mit.edu	37	chr2	220344809	220344809	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatggcacacctgagttTgtagcacccgagattgtcaa	11	10	10	10	1	1	2	1	1	0	1	1	3	1	2	2	1	1	5	2	1	3	4			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr2:220344809T>C	ENST00000312358.7	+	25	5421	c.5289T>C	c.(5287-5289)ttT>ttC	p.F1763F	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1763	Protein kinase 1.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		CACCTGAGTTTGTAGCACCCG	0.612													C	220344809	T	C	220344809	2	2	583	1	0	0	0	0	0	0	0	1	15132	1809	63	3		3	SPEG	2	220344809	Silent	SNP	T	TCGA-HT-8107-01A-13D-2395-08		220344809	22854564	1	49010											
GRM1	2911	broad.mit.edu	37	chr6	146480693	146480693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggactcctgagcgccatgCggcgccttggcgtcgtgggc	4	7	17	13	5	0	1	0	1	0	0	2	3	1	2	3	4	2	0	3	4	0	1			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr6:146480693C>T	ENST00000392299.2	+	3	1380	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	GRM1_ENST00000355289.4_Missense_Mutation_p.R304W|GRM1_ENST00000282753.1_Missense_Mutation_p.R304W|GRM1_ENST00000507907.1_Missense_Mutation_p.R304W|GRM1_ENST00000492807.2_Missense_Mutation_p.R304W|GRM1_ENST00000361719.2_Missense_Mutation_p.R304W			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	304					synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	GAGCGCCATGCGGCGCCTTGG	0.557													T	146480693	C	T	146480693	3	4	583	1	0	0	0	0	1	0	0	0	6851	759	27	1	916	1	GRM1	6	146480693	Missense_Mutation	SNP	C	TCGA-HT-8107-01A-13D-2395-08		146480693	24634374	2	49011											
AEBP1	165	broad.mit.edu	37	chr7	44153474	44153474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aacaccgcctgcggcttcggGcacagatgcggctgcggcgc	6	5	15	15	6	0	1	0	0	0	1	1	1	0	1	2	4	4	3	2	4	1	1	rs146344486	byFrequency	TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr7:44153474G>A	ENST00000223357.3	+	21	3396	c.3091G>A	c.(3091-3093)Gca>Aca	p.A1031T	AEBP1_ENST00000450684.2_Missense_Mutation_p.A606T	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1031	Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GCGGCTTCGGGCACAGATGCG	0.692													A	44153474	G	A	44153474	3	1	583	1	0	0	0	0	1	0	0	0	349	1203	42	2	3173	2	AEBP1	7	44153474	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08		44153474	114985189	3	49012											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000455089.1_Missense_Mutation_p.R108K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	583	1	0	0	0	0	1	0	0	0	5006	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08	11057606	55211080	103927583	4	49013											
AHNAK2	113146	broad.mit.edu	37	chr14	105420269	105420269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgctgtggggtactaaggcGcctttctctttctggctctt	3	16	11	11	2	3	0	0	0	3	0	5	0	3	0	1	4	1	3	1	4	2	5			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr14:105420269G>A	ENST00000333244.5	-	7	1638	c.1519C>T	c.(1519-1521)Cgc>Tgc	p.R507C		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	507						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTACTAAGGCGCCTTTCTCTT	0.532													A	105420269	G	A	105420269	3	1	583	1	0	0	0	0	1	0	0	0	415	1087	38	1	15872	1	AHNAK2	14	105420269	Missense_Mutation	SNP	G	TCGA-HT-8107-01A-13D-2395-08		105420269	1929271	5	49014											
TBXA2R	6915	broad.mit.edu	37	chr19	3600465	3600465	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaggagcgcgtgtgcgaAcccccctgccgcgcgcccgc	6	3	15	17	7	0	0	0	0	0	0	0	3	0	2	5	2	4	0	5	2	2	0			TCGA-HT-8107-01A-13D-2395-08	TCGA-HT-8107-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e07af1d6-d90c-4b64-827a-dbeaaa3bb16a	8e649592-0ef3-47ac-8b96-f05a3785703d	g.chr19:3600465A>C	ENST00000375190.4	-	2	561	c.168T>G	c.(166-168)ggT>ggG	p.G56G	TBXA2R_ENST00000411851.3_Silent_p.G56G|TBXA2R_ENST00000589966.1_Silent_p.G56G	NM_001060.5|NM_201636.2	NP_001051.1|NP_963998.2	P21731	TA2R_HUMAN	thromboxane A2 receptor	56					platelet activation	integral to plasma membrane	guanyl-nucleotide exchange factor activity|protein binding|thromboxane A2 receptor activity			kidney(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	8		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)	Ridogrel(DB01207)	GCGTGTGCGAACCCCCCTGCC	0.706													C	3600465	A	C	3600465	2	2	583	1	0	0	0	0	0	0	0	1	15763	30	2	5		5	TBXA2R	19	3600465	Silent	SNP	A	TCGA-HT-8107-01A-13D-2395-08		3600465	55528518	6	49015											
IL1R2	7850	broad.mit.edu	37	chr2	102641101	102641101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacatagagagcgcctacccGggaggccgcgtgaccgaggg	9	3	16	13	5	0	2	0	1	0	1	0	5	0	3	4	3	2	0	4	3	2	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:102641101G>A	ENST00000332549.3	+	7	1087	c.858G>A	c.(856-858)ccG>ccA	p.P286P	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.P286P|IL1R2_ENST00000441002.1_Silent_p.P286P	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	286	Ig-like C2-type 3.				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28					Anakinra(DB00026)	GCGCCTACCCGGGAGGCCGCG	0.572													A	102641101	G	A	102641101	2	1	584	1	0	0	0	0	0	0	0	1	7717	1103	39	1		1	IL1R2	2	102641101	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		102641101	140558272	1	49016											
TTN	7273	broad.mit.edu	37	chr2	179593263	179593263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcacagctactgcttcCgaagtcattttccaccttga	9	12	7	13	1	2	1	2	1	0	0	4	2	4	1	3	1	3	3	3	1	2	5			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:179593263C>T	ENST00000589042.1	-	66	19614	c.19390G>A	c.(19390-19392)Gga>Aga	p.G6464R	TTN_ENST00000591111.1_Missense_Mutation_p.G6147R|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G5220R|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6147	Ig-like 46.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTACTGCTTCCGAAGTCATTT	0.398													T	179593263	C	T	179593263	3	4	584	1	0	0	0	0	1	0	0	0	16837	661	23	1	85327	1	TTN	2	179593263	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	76952162	179593263	63606110	2	49017											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	584	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	29519849	209113112	34086261	3	49018											
EIF4A2	1974	broad.mit.edu	37	chr3	186501406	186501406	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtttttcggatcatgtctGgtggctccgcggattataac	6	15	12	8	3	2	0	1	0	1	0	4	2	3	2	1	5	1	2	1	5	2	4			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr3:186501406G>T	ENST00000323963.5	+	1	71	c.7G>T	c.(7-9)Ggt>Tgt	p.G3C	EIF4A2_ENST00000356531.5_5'UTR|EIF4A2_ENST00000440191.2_Missense_Mutation_p.G3C|RP11-573D15.9_ENST00000577781.1_RNA			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	3					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GATCATGTCTGGTGGCTCCGC	0.572			T	BCL6	NHL								T	186501406	G	T	186501406	3	4	584	1	0	0	0	0	1	0	0	0	5066	1348	47	4	9	4	EIF4A2	3	186501406	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		186501406	11521024	4	49019											
BBS7	55212	broad.mit.edu	37	chr4	122756377	122756377	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcggacctgacaggttttgGgttgaattcttggagtcaca	8	12	14	7	1	2	2	1	2	1	0	2	4	2	4	1	5	0	2	1	5	1	5			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr4:122756377G>T	ENST00000264499.4	-	14	1616	c.1433C>A	c.(1432-1434)cCc>cAc	p.P478H	BBS7_ENST00000506636.1_Missense_Mutation_p.P478H	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	478					cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						ACAGGTTTTGGGTTGAATTCT	0.393									Bardet-Biedl syndrome				T	122756377	G	T	122756377	3	4	584	1	0	0	0	0	1	0	0	0	1346	1232	43	4	743	4	BBS7	4	122756377	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		122756377	68397899	5	49020											
ROPN1L	83853	broad.mit.edu	37	chr5	10461352	10461352	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacggacgatccggagggCgggcccgctcgcatcccctt	5	6	13	17	6	1	0	1	0	0	0	4	3	3	2	4	4	0	2	4	4	0	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr5:10461352C>T	ENST00000503804.1	+	5	995	c.474C>T	c.(472-474)ggC>ggT	p.G158G	ROPN1L_ENST00000510520.1_3'UTR|ROPN1L_ENST00000274134.4_Silent_p.G158G			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	158					ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						ATCCGGAGGGCGGGCCCGCTC	0.567													T	10461352	C	T	10461352	2	4	584	1	0	0	0	0	0	0	0	1	13616	755	27	1		1	ROPN1L	5	10461352	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		10461352	170453908	6	49021											
SIM1	6492	broad.mit.edu	37	chr6	100911318	100911318	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttctccctcctagtccgCgcagcatttttggacttttc	4	16	6	15	2	1	0	0	0	1	0	6	1	4	1	4	1	1	2	4	1	1	6			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:100911318C>T	ENST00000369208.3	-	2	809	c.27G>A	c.(25-27)gcG>gcA	p.A9A	SIM1_ENST00000262901.4_Silent_p.A9A			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	9					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		TCCTAGTCCGCGCAGCATTTT	0.423													T	100911318	C	T	100911318	2	4	584	1	0	0	0	0	0	0	0	1	14417	755	27	1		1	SIM1	6	100911318	Silent	SNP	C	TCGA-HT-8108-01A-11D-2395-08		100911318	70203749	7	49022											
SYNE1	23345	broad.mit.edu	37	chr6	152485384	152485384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctctgactcgatgtgagCgagccaggtcctcaggctgc	7	8	13	13	2	2	2	1	2	1	0	4	4	3	2	2	2	4	2	2	2	0	0			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr6:152485384C>T	ENST00000367255.5	-	131	24305	c.23704G>A	c.(23704-23706)Gct>Act	p.A7902T	SYNE1_ENST00000356820.4_Missense_Mutation_p.A2426T|SYNE1_ENST00000423061.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000265368.4_Missense_Mutation_p.A7902T|SYNE1_ENST00000347037.5_5'UTR|SYNE1_ENST00000448038.1_Missense_Mutation_p.A7831T|SYNE1_ENST00000354674.4_Missense_Mutation_p.A57T|SYNE1_ENST00000539504.1_Missense_Mutation_p.A57T|SYNE1_ENST00000341594.5_Missense_Mutation_p.A7514T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7902					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)		TCGATGTGAGCGAGCCAGGTC	0.502										HNSCC(10;0.0054)			T	152485384	C	T	152485384	3	4	584	1	0	0	0	0	1	0	0	0	15542	768	27	1	2826	1	SYNE1	6	152485384	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	51574066	152485384	18629683	8	49023											
CYP2C9	1559	broad.mit.edu	37	chr10	96698494	96698494	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtttgcttctcctttcaCtctggagacagagctctggg	6	14	10	11	0	4	2	1	0	3	2	5	3	4	2	1	2	2	3	1	2	0	3	rs67807361		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr10:96698494C>A	ENST00000260682.6	+	1	67	c.55C>A	c.(55-57)Ctc>Atc	p.L19I	CYP2C9_ENST00000461906.1_3'UTR	NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	19			L -> I (in allele CYP2C9*7).		exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	TCTCCTTTCACTCTGGAGACA	0.473													A	96698494	C	A	96698494	3	1	584	1	0	0	0	0	1	0	0	0	4201	565	20	4	57	4	CYP2C9	10	96698494	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08		96698494	38836253	9	49024											
MS4A3	932	broad.mit.edu	37	chr11	59830060	59830060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttctacacaggctacccGatttggggtgctgtgtttgt	6	14	11	10	1	1	0	0	0	1	0	1	1	1	0	2	3	3	3	2	3	2	5			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:59830060G>A	ENST00000278865.3	+	3	349	c.276G>A	c.(274-276)ccG>ccA	p.P92P	MS4A3_ENST00000395032.2_Intron|MS4A3_ENST00000358152.2_Intron|MS4A3_ENST00000534744.1_Intron	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	92						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				CAGGCTACCCGATTTGGGGTG	0.423													A	59830060	G	A	59830060	2	1	584	1	0	0	0	0	0	0	0	1	9937	1045	37	1		1	MS4A3	11	59830060	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		59830060	75176456	10	49025											
IL18	3606	broad.mit.edu	37	chr11	112014361	112014361	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattatagatctatccccCaattcatcctcttttttcaa	12	16	1	12	0	4	1	2	0	2	1	6	1	6	1	3	0	1	0	3	0	6	7			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:112014361C>A	ENST00000280357.7	-	6	759	c.540G>T	c.(538-540)ttG>ttT	p.L180F	IL18_ENST00000524595.1_Missense_Mutation_p.L176F|SDHD_ENST00000532699.1_Intron|IL18_ENST00000528832.1_Missense_Mutation_p.L180F	NM_001562.3	NP_001553.1	Q14116	IL18_HUMAN	interleukin 18 (interferon-gamma-inducing factor)	180					angiogenesis|cell-cell signaling|chemokine biosynthetic process|granulocyte macrophage colony-stimulating factor biosynthetic process|interferon-gamma biosynthetic process|interleukin-13 biosynthetic process|interleukin-2 biosynthetic process|positive regulation of activated T cell proliferation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of interferon-gamma production|positive regulation of interleukin-17 production|positive regulation of natural killer cell proliferation|positive regulation of NK T cell proliferation|regulation of cell adhesion|sleep|T-helper 1 type immune response|type 2 immune response	cytosol|extracellular space	cytokine activity|signal transducer activity						all_cancers(61;5.7e-14)|all_epithelial(67;3.4e-08)|Melanoma(852;8.81e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|Epithelial(105;8.15e-07)|all cancers(92;1.43e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.055)		ATCTATCCCCCAATTCATCCT	0.388													A	112014361	C	A	112014361	3	1	584	1	0	0	0	0	1	0	0	0	7703	593	21	4	45	4	IL18	11	112014361	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	52184301	112014361	22992155	11	49026											
CADM1	23705	broad.mit.edu	37	chr11	115109342	115109342	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgagttcactgctagaaaaaTtcagcaactgaaacctgctg	14	10	8	9	0	2	3	2	2	0	1	2	3	2	3	1	0	5	4	1	0	5	3			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr11:115109342T>C	ENST00000452722.3	-	3	322	c.302A>G	c.(301-303)aAt>aGt	p.N101S	CADM1_ENST00000536727.1_Missense_Mutation_p.N101S|CADM1_ENST00000542447.2_Missense_Mutation_p.N101S|CADM1_ENST00000537058.1_Missense_Mutation_p.N101S|CADM1_ENST00000331581.6_Missense_Mutation_p.N101S|CADM1_ENST00000537140.1_5'UTR	NM_014333.3	NP_055148.3	Q9BY67	CADM1_HUMAN	cell adhesion molecule 1		Ig-like V-type.				adherens junction organization|apoptosis|cell differentiation|cell junction assembly|cell recognition|detection of stimulus|heterophilic cell-cell adhesion|homophilic cell adhesion|multicellular organismal development|positive regulation of cytokine secretion|spermatogenesis|susceptibility to natural killer cell mediated cytotoxicity	basolateral plasma membrane|cell-cell junction|integral to membrane	PDZ domain binding|protein C-terminus binding|protein homodimerization activity|receptor binding			cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		GCTAGAAAAATTCAGCAACTG	0.393													C	115109342	T	C	115109342	3	2	584	1	0	0	0	0	1	0	0	0	2592	1493	52	3	1058	3	CADM1	11	115109342	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	3094981	115109342	19897174	12	49027											
KERA	11081	broad.mit.edu	37	chr12	91445220	91445220	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacggaggtagcgaagaTgaggtccataactgaaggaa	15	5	14	7	2	0	4	0	2	0	2	1	7	1	6	2	4	2	1	2	4	5	2			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:91445220T>C	ENST00000266719.3	-	3	1209	c.962A>G	c.(961-963)cAt>cGt	p.H321R		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	321					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						GTAGCGAAGATGAGGTCCATA	0.438													C	91445220	T	C	91445220	3	2	584	1	0	0	0	0	1	0	0	0	8201	1464	51	3	100	3	KERA	12	91445220	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08		91445220	42406675	13	49028											
LRRC43	254050	broad.mit.edu	37	chr12	122684844	122684844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccactgaaggccttcctgctGgcggggaccaccgtgaccat	7	7	12	15	2	0	2	0	2	0	0	1	3	1	3	6	4	1	1	6	4	1	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr12:122684844G>A	ENST00000339777.4	+	8	1486	c.1458G>A	c.(1456-1458)ctG>ctA	p.L486L	LRRC43_ENST00000425921.1_Silent_p.L301L	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	486										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCTTCCTGCTGGCGGGGACCA	0.627													A	122684844	G	A	122684844	2	1	584	1	0	0	0	0	0	0	0	1	9071	1335	47	2		2	LRRC43	12	122684844	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08	31239624	122684844	11167051	14	49029											
CDK10	8558	broad.mit.edu	37	chr16	89755723	89755723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcattggagagggtacctacGgcattgtgtgtgagtggcca	8	10	16	7	1	0	2	0	1	0	1	0	3	0	2	2	4	2	3	2	4	2	4			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr16:89755723G>A	ENST00000353379.7	+	2	194	c.151G>A	c.(151-153)Ggc>Agc	p.G51S	CDK10_ENST00000505473.1_5'UTR|CDK10_ENST00000331006.8_Intron|CDK10_ENST00000514965.1_3'UTR	NM_001098533.2|NM_001160367.1|NM_052988.4	NP_001092003.2|NP_001153839.1|NP_443714.3	Q15131	CDK10_HUMAN	cyclin-dependent kinase 10	51	Protein kinase.				negative regulation of cell proliferation|traversing start control point of mitotic cell cycle		ATP binding|cyclin-dependent protein kinase activity|protein binding			ovary(1)	1		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0276)		GGGTACCTACGGCATTGTGTG	0.582													A	89755723	G	A	89755723	3	1	584	1	0	0	0	0	1	0	0	0	3155	1116	39	1	157	1	CDK10	16	89755723	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		89755723	599030	15	49030											
TP53	7157	broad.mit.edu	37	chr17	7578471	7578471	+	Frame_Shift_Del	DEL	G	G	-																															atggcgcggacgcgggtgccGggcgggggtgtggaatcaac																								rs137852790		TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr17:7578471delG	ENST00000420246.2	-	5	591	c.459delC	c.(457-459)cccfs	p.P153fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P153fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P153fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P153fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	153	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.0?(8)|p.P153P(7)|p.T150fs*16(6)|p.?(5)|p.P152fs*14(5)|p.P153fs*26(2)|p.G154fs*27(2)|p.P153fs*22(2)|p.D148_T155delDSTPPPGT(1)|p.Q144_G154del11(1)|p.P151_V173del23(1)|p.P153_G154insX(1)|p.D148fs*23(1)|p.T150_P153delTPPP(1)|p.T18fs*16(1)|p.Q144fs*16(1)|p.S149fs*72(1)|p.T57fs*16(1)|p.P152fs*27(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)		CGCGGGTGCCGGGCGGGGGTG	0.612		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)			-	7578471	G	-	7578471	7	5	584	1	0	1	0	1	0	0	0	0	16482	1103	39	0	839	0	TP53	17	7578471	Frame_Shift_Del	DEL	G	TCGA-HT-8108-01A-11D-2395-08		7578471	73616739	16	49031											
GNAL	2774	broad.mit.edu	37	chr18	11880999	11880999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcttgcagaggatcagcacGgccaccggtgacggcaaaca	11	5	12	13	3	2	2	1	1	1	1	2	3	2	3	2	4	3	3	2	4	1	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chr18:11880999G>A	ENST00000334049.6	+	12	1850	c.1242G>A	c.(1240-1242)acG>acA	p.T414T	GNAL_ENST00000269162.5_Silent_p.T337T|GNAL_ENST00000423027.3_Silent_p.T337T|GNAL_ENST00000602628.1_Silent_p.T130T|GNAL_ENST00000535121.1_Silent_p.T337T	NM_182978.3	NP_892023.1	P38405	GNAL_HUMAN	guanine nucleotide binding protein (G protein), alpha activating activity polypeptide, olfactory type	337					activation of adenylate cyclase activity by dopamine receptor signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception of smell|synaptic transmission	heterotrimeric G-protein complex	adenylate cyclase activity|G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(4)|ovary(1)	12						GGATCAGCACGGCCACCGGTG	0.622													A	11880999	G	A	11880999	2	1	584	1	0	0	0	0	0	0	0	1	6563	1103	39	1		1	GNAL	18	11880999	Silent	SNP	G	TCGA-HT-8108-01A-11D-2395-08		11880999	66196249	17	49032											
OPHN1	4983	broad.mit.edu	37	chrX	67414334	67414334	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgttttgttatagggctgtGgtagatctacaaaagaagat	12	14	11	4	0	1	3	0	0	1	3	1	3	1	3	0	2	1	4	0	2	7	6			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:67414334G>C	ENST00000355520.5	-	13	1752	c.1111C>G	c.(1111-1113)Cac>Gac	p.H371D	OPHN1_ENST00000540071.1_Missense_Mutation_p.H371D	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1	371					axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						ATAGGGCTGTGGTAGATCTAC	0.348													C	67414334	G	C	67414334	3	2	584	1	0	0	0	0	1	0	0	0	10951	1348	47	4	1345	4	OPHN1	23	67414334	Missense_Mutation	SNP	G	TCGA-HT-8108-01A-11D-2395-08		67414334	87856226	18	49033											
RGAG4	340526	broad.mit.edu	37	chrX	71350844	71350844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccacccgctcggcgccccCggggaaatgaacctcatggt	7	5	13	16	4	1	1	1	1	0	0	2	2	1	2	5	5	1	1	5	5	2	0			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:71350844C>T	ENST00000545866.1	-	1	914	c.547G>A	c.(547-549)Ggg>Agg	p.G183R	RGAG4_ENST00000609883.1_Missense_Mutation_p.G183R|NHSL2_ENST00000540800.1_Intron	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	183										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCGGCGCCCCCGGGGAAATGA	0.582													T	71350844	C	T	71350844	3	4	584	1	0	0	0	0	1	0	0	0	13363	652	23	1	1166	1	RGAG4	23	71350844	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	3936510	71350844	83919716	19	49034											
ATRX	546	broad.mit.edu	37	chrX	76813062	76813063	+	Frame_Shift_Ins	INS	-	-	AG																															tgctgatcaacaactcgaaaINSagacagtgactgcttagtta																										TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:76813062_76813063insAG	ENST00000373344.5	-	30	6772_6773	c.6558_6559insCT	c.(6556-6561)tcttttfs	p.F2187fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F2149fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2187	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)	ACAACTCGAAAAGACAGTGACT	0.347			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						AG	76813063	-	AG	76813062	7	5	584	1	0	1	1	0	0	0	0	0	1213	14	1	0	943	0	ATRX	23	76813062	Frame_Shift_Ins	INS	-	TCGA-HT-8108-01A-11D-2395-08	5462218	76813062	78457498	20	49035											
IRS4	8471	broad.mit.edu	37	chrX	107979043	107979043	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgttctcggccaccatcgCgaagtattcgtcttgggtga	6	12	11	12	5	2	1	0	1	2	0	6	2	2	1	2	2	0	2	2	2	2	4			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:107979043C>G	ENST00000372129.2	-	1	608	c.532G>C	c.(532-534)Gcg>Ccg	p.A178P		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	178	PH.					plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						GCCACCATCGCGAAGTATTCG	0.612													G	107979043	C	G	107979043	3	3	584	1	0	0	0	0	1	0	0	0	7900	768	27	4	3245	4	IRS4	23	107979043	Missense_Mutation	SNP	C	TCGA-HT-8108-01A-11D-2395-08	31165981	107979043	47291517	21	49036											
RENBP	5973	broad.mit.edu	37	chrX	153208518	153208518	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgatctgatccatcatcTccaccgcttccgtctggggg	6	10	11	14	3	4	1	1	1	3	0	7	3	6	2	4	3	0	1	4	3	0	1			TCGA-HT-8108-01A-11D-2395-08	TCGA-HT-8108-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	83398327-b05a-4e54-ae4b-1cffc6bde4da	657f8664-082c-411b-92f1-2e5e82ad5bd5	g.chrX:153208518T>G	ENST00000393700.3	-	6	556	c.476A>C	c.(475-477)gAg>gCg	p.E159A	RENBP_ENST00000462086.1_5'UTR|RENBP_ENST00000412763.1_Missense_Mutation_p.E159A|RENBP_ENST00000369997.3_Missense_Mutation_p.E145A	NM_002910.5	NP_002901.2	P51606	RENBP_HUMAN	renin binding protein	159					mannose metabolic process|regulation of blood pressure		endopeptidase inhibitor activity|mannose-6-phosphate isomerase activity|N-acylglucosamine 2-epimerase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				N-Acetyl-D-glucosamine(DB00141)	ATCCATCATCTCCACCGCTTC	0.711													G	153208518	T	G	153208518	3	3	584	1	0	0	0	0	1	0	0	0	13313	1551	54	5	831	5	RENBP	23	153208518	Missense_Mutation	SNP	T	TCGA-HT-8108-01A-11D-2395-08	45229475	153208518	2062042	22	49037											
KTI12	112970	broad.mit.edu	37	chr1	52498859	52498865	+	Frame_Shift_Del	DEL	GAATCCG	GAATCCG	-																															catgctttgcagatttctctGaatccggagtcacaagagct																								rs2783175	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:52498859_52498865delGAATCCG	ENST00000371614.1	-	1	623_629	c.569_575delCGGATTC	c.(568-576)ccggattcafs	p.PDS190fs	TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	190							ATP binding	p.D191E(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						AGATTTCTCTGAATCCGGAGTCACAAG	0.575													-	52498865	GAATCCG	-	52498859	7	5	585	1	0	1	0	1	0	0	0	0	8643	1294	45	0	493	0	KTI12	1	52498859	Frame_Shift_Del	DEL	GAATCCG	TCGA-HT-8109-01A-11D-2395-08		52498859	196751762	1	49038											
KCNA10	3744	broad.mit.edu	37	chr1	111060317	111060317	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccttcagtgtttgccCgaggatctgcagccccttgg	5	10	13	13	2	2	0	1	0	1	0	2	3	2	2	4	3	3	2	4	3	0	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:111060317C>T	ENST00000369771.2	-	1	1480	c.1093G>A	c.(1093-1095)Ggg>Agg	p.G365R		NM_005549.2	NP_005540.1	Q16322	KCA10_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 10	365						voltage-gated potassium channel complex	intracellular cyclic nucleotide activated cation channel activity|voltage-gated potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(3)|skin(1)|urinary_tract(1)	35		all_cancers(81;4.57e-06)|all_epithelial(167;1.52e-05)|all_lung(203;0.000152)|Lung NSC(277;0.000301)		Lung(183;0.0238)|all cancers(265;0.0874)|Colorectal(144;0.103)|Epithelial(280;0.116)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGTGTTTGCCCGAGGATCTGC	0.557													T	111060317	C	T	111060317	3	4	585	1	0	0	0	0	1	0	0	0	8060	652	23	1	446	1	KCNA10	1	111060317	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	58561458	111060317	138190304	2	49039											
DUSP27	92235	broad.mit.edu	37	chr1	167096396	167096396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgctgatggggacacgacGtcagtactgagcacccagag	11	5	14	11	3	1	3	1	2	0	1	1	5	1	4	1	2	3	3	1	2	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:167096396G>A	ENST00000361200.2	+	6	2194	c.2028G>A	c.(2026-2028)acG>acA	p.T676T	DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Silent_p.T676T|DUSP27_ENST00000443333.1_Silent_p.T676T			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	676					protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GGGACACGACGTCAGTACTGA	0.637													A	167096396	G	A	167096396	2	1	585	1	0	0	0	0	0	0	0	1	4863	1132	40	1		1	DUSP27	1	167096396	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	56036079	167096396	82154225	3	49040											
PRG4	10216	broad.mit.edu	37	chr1	186276487	186276487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccactaccaagtctgcaCccaccactcccaaggagcct	11	5	5	20	0	1	0	0	0	1	0	2	1	2	1	7	1	3	1	7	1	3	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:186276487C>T	ENST00000445192.2	+	7	1681	c.1636C>T	c.(1636-1638)Ccc>Tcc	p.P546S	PRG4_ENST00000367486.3_Missense_Mutation_p.P503S|PRG4_ENST00000367483.4_Missense_Mutation_p.P505S|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.P453S	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	546	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			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						CAAGTCTGCACCCACCACTCC	0.642													T	186276487	C	T	186276487	3	4	585	1	0	0	0	0	1	0	0	0	12567	507	18	2	1658	2	PRG4	1	186276487	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	19180091	186276487	62974134	4	49041											
ARID4B	51742	broad.mit.edu	37	chr1	235345238	235345244	+	Frame_Shift_Del	DEL	TCTTCAA	TCTTCAA	-																															cattgacctctactgtttttTcttcaatgggtttactatcg																										TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:235345238_235345244delTCTTCAA	ENST00000264183.3	-	20	3487_3493	c.2990_2996delTTGAAGA	c.(2989-2997)attgaagaafs	p.IEE997fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.IEE911fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.IEE997fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	997					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			TACTGTTTTTTCTTCAATGGGTTTACT	0.444													-	235345244	TCTTCAA	-	235345238	7	5	585	1	0	1	0	1	0	0	0	0	923	1783	62	0	962	0	ARID4B	1	235345238	Frame_Shift_Del	DEL	TCTTCAA	TCGA-HT-8109-01A-11D-2395-08	49068751	235345238	13905383	5	49042											
OR13G1	441933	broad.mit.edu	37	chr1	247835570	247835570	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgtatagctggaagcaggGcggatataggtgtagattac	13	10	14	4	1	0	1	0	0	0	1	0	3	0	3	0	4	3	4	0	4	8	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr1:247835570G>T	ENST00000359688.2	-	1	795	c.774C>A	c.(772-774)cgC>cgA	p.R258R	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			TGGAAGCAGGGCGGATATAGG	0.463													T	247835570	G	T	247835570	2	4	585	1	0	0	0	0	0	0	0	1	11018	1190	42	4		4	OR13G1	1	247835570	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	12490332	247835570	1415051	6	49043											
CYP26B1	56603	broad.mit.edu	37	chr2	72362274	72362274	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggccctgggtgctcaccCgccggtagccactgaagggc	6	5	14	16	2	1	1	1	1	0	0	1	1	1	1	5	4	2	2	5	4	2	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:72362274C>T	ENST00000001146.2	-	3	907	c.704G>A	c.(703-705)cGg>cAg	p.R235Q	CYP26B1_ENST00000412253.1_Splice_Site_p.R44Q|CYP26B1_ENST00000546307.1_Splice_Site_p.R160Q	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	235					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						GGTGCTCACCCGCCGGTAGCC	0.637													T	72362274	C	T	72362274	5	4	585	1	0	0	0	0	0	0	1	0	4189	666	23	1	850	1	CYP26B1	2	72362274	Splice_Site	SNP	C	TCGA-HT-8109-01A-11D-2395-08		72362274	170837099	7	49044											
FBLN7	129804	broad.mit.edu	37	chr2	112944825	112944825	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaagacgcccatcacgctCttccgcatggccacagcctc	8	7	8	18	3	2	2	1	1	1	1	4	2	3	2	4	1	1	2	4	1	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:112944825C>T	ENST00000331203.2	+	8	1333	c.1062C>T	c.(1060-1062)ctC>ctT	p.L354L	FBLN7_ENST00000409450.3_Silent_p.L308L|FBLN7_ENST00000409903.1_Intron|FBLN7_ENST00000409667.3_Silent_p.L220L	NM_001128165.1|NM_153214.2	NP_001121637.1|NP_694946.2	Q53RD9	FBLN7_HUMAN	fibulin 7	354					cell adhesion	proteinaceous extracellular matrix	calcium ion binding|heparin binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						CCATCACGCTCTTCCGCATGG	0.647													T	112944825	C	T	112944825	2	4	585	1	0	0	0	0	0	0	0	1	5750	900	32	2		2	FBLN7	2	112944825	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	40582551	112944825	130254548	8	49045											
ZNF804A	91752	broad.mit.edu	37	chr2	185802239	185802239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttaaatggacaatcaaatGcaacaatgatacattctggg	16	12	7	6	0	2	1	1	1	1	0	2	2	2	2	0	2	3	1	0	2	7	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:185802239G>A	ENST00000302277.6	+	4	2710	c.2116G>A	c.(2116-2118)Gca>Aca	p.A706T		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	706						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						ACAATCAAATGCAACAATGAT	0.308													A	185802239	G	A	185802239	3	1	585	1	0	0	0	0	1	0	0	0	18269	1319	46	2	2130	2	ZNF804A	2	185802239	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	72857414	185802239	57397134	9	49046											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	585	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	23310873	209113112	34086261	10	49047											
DNAH5	1767	broad.mit.edu	37	chr5	13919350	13919350	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcacatccgggcttttcaAttgttccaaaaggtagttaa	11	14	7	9	1	2	0	2	0	0	0	4	0	4	0	2	2	0	4	2	2	5	7			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:13919350A>G	ENST00000265104.4	-	7	1014	c.910T>C	c.(910-912)Ttg>Ctg	p.L304L		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	304	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					GGGCTTTTCAATTGTTCCAAA	0.507									Kartagener syndrome				G	13919350	A	G	13919350	2	3	585	1	0	0	0	0	0	0	0	1	4643	98	4	3		3	DNAH5	5	13919350	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		13919350	166995910	11	49048											
CWC27	10283	broad.mit.edu	37	chr5	64096085	64096085	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctttgcagagcatgaaggGcaaaagcaaaagtagtcatg	15	9	11	6	0	2	2	1	1	1	1	2	2	2	2	0	1	3	5	0	1	6	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:64096085G>A	ENST00000508024.1	+	8	881	c.680G>A	c.(679-681)gGc>gAc	p.G227D	CWC27_ENST00000381070.3_Missense_Mutation_p.G227D			Q6UX04	CWC27_HUMAN	CWC27 spliceosome-associated protein homolog (S. cerevisiae)	227					protein folding	catalytic step 2 spliceosome	peptidyl-prolyl cis-trans isomerase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(5)|prostate(1)	21						AGCATGAAGGGCAAAAGCAAA	0.358													A	64096085	G	A	64096085	3	1	585	1	0	0	0	0	1	0	0	0	4103	1203	42	2	710	2	CWC27	5	64096085	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	50176735	64096085	116819175	12	49049											
ATP6AP1L	92270	broad.mit.edu	37	chr5	81608458	81608458	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaattacaacaagttgTccatccagagttggtttagt	12	14	7	8	0	0	1	0	0	0	1	2	1	2	1	3	1	3	3	3	1	6	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:81608458T>G	ENST00000380167.4	+	9	1485	c.160T>G	c.(160-162)Tcc>Gcc	p.S54A	ATP6AP1L_ENST00000439350.1_Missense_Mutation_p.S54A|ATP6AP1L_ENST00000508366.1_3'UTR			Q52LC2	VAS1L_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1-like	54					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain	hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	12						CAACAAGTTGTCCATCCAGAG	0.413											OREG0016689	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	81608458	T	G	81608458	3	3	585	1	0	0	0	0	1	0	0	0	1171	1667	58	5	170	5	ATP6AP1L	5	81608458	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	17512373	81608458	99306802	13	49050											
HTR4	3360	broad.mit.edu	37	chr5	147889456	147889456	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttagctgtgacatagatgcgGtaataggccagcaccatgag	12	9	12	8	1	0	3	0	2	0	1	0	3	0	3	2	2	3	3	2	2	4	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr5:147889456G>T	ENST00000360693.3	-	6	777	c.639C>A	c.(637-639)taC>taA	p.Y213*	HTR4_ENST00000314512.6_Nonsense_Mutation_p.Y213*|HTR4_ENST00000362016.2_Nonsense_Mutation_p.Y227*|HTR4_ENST00000354217.2_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521530.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000521735.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000377888.3_Nonsense_Mutation_p.Y213*|HTR4_ENST00000520514.1_Nonsense_Mutation_p.Y213*|HTR4_ENST00000517929.1_Nonsense_Mutation_p.Y213*	NM_001040173.2	NP_001035263.1	Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	213					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	CATAGATGCGGTAATAGGCCA	0.542													T	147889456	G	T	147889456	4	4	585	1	0	0	0	0	0	1	0	0	7507	1256	44	4	831	4	HTR4	5	147889456	Nonsense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	66280998	147889456	33025804	14	49051											
C6orf10	10665	broad.mit.edu	37	chr6	32261116	32261116	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagtacacctgcctcactcTtcttttcttggacctcttgt	5	17	5	14	0	6	0	2	0	4	0	6	1	6	1	3	1	2	1	3	1	1	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:32261116T>G	ENST00000375015.4	-	26	1531	c.1331A>C	c.(1330-1332)aAg>aCg	p.K444T	C6orf10_ENST00000442822.2_Missense_Mutation_p.K436T|C6orf10_ENST00000533191.1_Missense_Mutation_p.K443T|C6orf10_ENST00000527965.1_Missense_Mutation_p.K429T|C6orf10_ENST00000447241.2_Missense_Mutation_p.K445T|C6orf10_ENST00000375007.4_Missense_Mutation_p.K443T			Q5SRN2	CF010_HUMAN	chromosome 6 open reading frame 10	445						integral to membrane				cervix(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(12)|ovary(1)|skin(1)	25						TGCCTCACTCTTCTTTTCTTG	0.458													G	32261116	T	G	32261116	3	3	585	1	0	0	0	0	1	0	0	0	2339	1609	56	5	361	5	C6orf10	6	32261116	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08		32261116	138853951	15	49052											
FAM83B	222584	broad.mit.edu	37	chr6	54735129	54735129	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcactacaaggaatggtatCgagtagccattgatattctg	12	12	9	8	1	2	1	1	1	1	0	3	3	2	2	1	2	2	2	1	2	6	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr6:54735129C>T	ENST00000306858.7	+	2	201	c.85C>T	c.(85-87)Cga>Tga	p.R29*		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	29										autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					GGAATGGTATCGAGTAGCCAT	0.403													T	54735129	C	T	54735129	4	4	585	1	0	0	0	0	0	1	0	0	5684	876	31	1	87	1	FAM83B	6	54735129	Nonsense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	22474013	54735129	116379938	16	49053											
TACC1	6867	broad.mit.edu	37	chr8	38678119	38678119	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atcacgttaatgaaatcttaGaatcacccaagaaggcaaag	18	8	7	8	1	3	3	2	1	1	2	3	3	3	3	1	1	0	2	1	1	7	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr8:38678119G>C	ENST00000379931.3	+	3	1736	c.1357G>C	c.(1357-1359)Gaa>Caa	p.E453Q	TACC1_ENST00000518415.1_Missense_Mutation_p.E408Q|TACC1_ENST00000520615.1_Missense_Mutation_p.E258Q|TACC1_ENST00000443286.2_Missense_Mutation_p.E469Q|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000519416.1_Missense_Mutation_p.E258Q|TACC1_ENST00000317827.4_Missense_Mutation_p.E453Q|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000520973.1_Missense_Mutation_p.E258Q|TACC1_ENST00000520611.1_5'UTR|TACC1_ENST00000520340.1_Missense_Mutation_p.E417Q|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000330691.6_Intron			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	453	SPAZ 2.				cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			TGAAATCTTAGAATCACCCAA	0.453													C	38678119	G	C	38678119	3	2	585	1	0	0	0	0	1	0	0	0	15598	943	33	4	1367	4	TACC1	8	38678119	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		38678119	107685903	17	49054											
KIF24	347240	broad.mit.edu	37	chr9	34257924	34257924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggagtttccagatgtccGatttcgactggtaactgaag	11	11	12	7	2	0	3	0	1	0	2	3	6	2	4	2	2	1	2	2	2	2	3	rs144983593		TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:34257924G>A	ENST00000379166.2	-	11	1800	c.1681C>T	c.(1681-1683)Cgg>Tgg	p.R561W	KIF24_ENST00000379174.3_Missense_Mutation_p.R427W|KIF24_ENST00000345050.2_Missense_Mutation_p.R427W|KIF24_ENST00000402558.2_Missense_Mutation_p.R561W	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	561					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			CCAGATGTCCGATTTCGACTG	0.398													A	34257924	G	A	34257924	3	1	585	1	0	0	0	0	1	0	0	0	8350	1057	37	1	2437	1	KIF24	9	34257924	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		34257924	106955507	18	49055											
FAM120A	23196	broad.mit.edu	37	chr9	96324505	96324505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttaggcgtccaagaggagtTatttccaccccagtgattag	10	12	10	9	1	0	2	0	1	0	1	2	3	2	3	4	2	0	1	4	2	4	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:96324505T>A	ENST00000277165.6	+	17	3158	c.2964T>A	c.(2962-2964)gtT>gtA	p.V988V	FAM120A_ENST00000333936.5_Silent_p.V1016V|FAM120A_ENST00000340893.4_Silent_p.V942V	NM_014612.3	NP_055427.2	Q9NZB2	F120A_HUMAN	family with sequence similarity 120A	988	RNA binding.					cytoplasm|plasma membrane	RNA binding			endometrium(5)|kidney(3)|large_intestine(8)|lung(12)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CAAGAGGAGTTATTTCCACCC	0.368													A	96324505	T	A	96324505	2	1	585	1	0	0	0	0	0	0	0	1	5460	1741	61	5		5	FAM120A	9	96324505	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	62066581	96324505	44888926	19	49056											
GBGT1	26301	broad.mit.edu	37	chr9	136029281	136029281	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagtggaaacacgcctgcGctcataggggaactgctggc	9	6	15	11	2	1	0	1	0	0	0	1	2	1	2	1	5	4	3	1	5	3	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr9:136029281G>A	ENST00000372040.3	-	7	1038	c.727C>T	c.(727-729)Cgc>Tgc	p.R243C	GBGT1_ENST00000540636.1_Missense_Mutation_p.R226C|RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000372043.3_Silent_p.S236S|GBGT1_ENST00000472281.1_5'UTR	NM_001282629.1	NP_001269558.1			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		ACACGCCTGCGCTCATAGGGG	0.602													A	136029281	G	A	136029281	3	1	585	1	0	0	0	0	1	0	0	0	6326	1087	38	1	320	1	GBGT1	9	136029281	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	39704776	136029281	5184150	20	49057											
OGDHL	55753	broad.mit.edu	37	chr10	50953529	50953529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctcattgtggccacgcCggcggtaacagacctgcagg	8	7	12	14	3	1	1	1	0	1	1	2	1	1	1	4	4	2	2	4	4	1	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:50953529C>T	ENST00000374103.4	-	12	1575	c.1490G>A	c.(1489-1491)cGg>cAg	p.R497Q	OGDHL_ENST00000432695.1_Missense_Mutation_p.R288Q|OGDHL_ENST00000419399.1_Missense_Mutation_p.R440Q	NM_018245.2	NP_060715.2	Q9ULD0	OGDHL_HUMAN	oxoglutarate dehydrogenase-like	497					glycolysis	mitochondrial matrix	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(1)	61						GTGGCCACGCCGGCGGTAACA	0.572													T	50953529	C	T	50953529	3	4	585	1	0	0	0	0	1	0	0	0	10916	652	23	1	1590	1	OGDHL	10	50953529	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		50953529	84581218	21	49058											
ADK	132	broad.mit.edu	37	chr10	76360239	76360239	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaagggagagatgacactAtaatggctacaggtacatgt	14	8	11	8	0	0	2	0	1	0	1	0	4	0	3	1	3	2	2	1	3	5	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:76360239A>G	ENST00000372734.3	+	9	1001	c.814A>G	c.(814-816)Ata>Gta	p.I272V	ADK_ENST00000541550.1_Missense_Mutation_p.I254V|ADK_ENST00000539909.1_Missense_Mutation_p.I232V|ADK_ENST00000286621.2_Missense_Mutation_p.I289V	NM_001123.3|NM_001202449.1	NP_001114.2|NP_001189378.1	P55263	ADK_HUMAN	adenosine kinase	289					purine base metabolic process|purine ribonucleoside salvage	cytosol	adenosine kinase activity|ATP binding|metal ion binding|phosphotransferase activity, alcohol group as acceptor			breast(1)|large_intestine(2)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	8	Prostate(51;0.0112)|Ovarian(15;0.148)				Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)|Pegademase bovine(DB00061)|Ribavirin(DB00811)	AGATGACACTATAATGGCTAC	0.348													G	76360239	A	G	76360239	3	3	585	1	0	0	0	0	1	0	0	0	320	449	16	3	917	3	ADK	10	76360239	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	25406710	76360239	59174508	22	49059											
LOXL4	84171	broad.mit.edu	37	chr10	100013489	100013489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacaatacagctggctgagCgggcggtcctccaagtaggc	9	6	14	12	2	0	1	0	1	0	0	2	1	2	1	2	4	3	4	2	4	4	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr10:100013489C>T	ENST00000260702.3	-	11	1806	c.1656G>A	c.(1654-1656)ccG>ccA	p.P552P	RP11-34A14.3_ENST00000433374.1_RNA	NM_032211.6	NP_115587.6	Q96JB6	LOXL4_HUMAN	lysyl oxidase-like 4	552	Lysyl-oxidase like.					extracellular space|membrane	copper ion binding|protein binding|scavenger receptor activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(8)|ovary(4)|prostate(1)|skin(2)	26		Colorectal(252;0.234)		Epithelial(162;2.14e-11)|all cancers(201;2.49e-09)		GCTGGCTGAGCGGGCGGTCCT	0.627													T	100013489	C	T	100013489	2	4	585	1	0	0	0	0	0	0	0	1	8972	755	27	1		1	LOXL4	10	100013489	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	23653250	100013489	35521258	23	49060											
ADRBK1	156	broad.mit.edu	37	chr11	67046685	67046685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagggtacctgctcttcCgagacttctgcctgaaccac	7	11	8	15	1	3	2	1	1	2	1	4	3	4	2	4	1	4	2	4	1	2	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr11:67046685C>G	ENST00000308595.5	+	3	495	c.205C>G	c.(205-207)Cga>Gga	p.R69G	ADRBK1_ENST00000526285.1_Missense_Mutation_p.R69G	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	69	N-terminal.|RGS.				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	p.R69R(1)		cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	CCTGCTCTTCCGAGACTTCTG	0.592													G	67046685	C	G	67046685	3	3	585	1	0	0	0	0	1	0	0	0	343	644	23	4	215	4	ADRBK1	11	67046685	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		67046685	67959831	24	49061											
TAPBPL	55080	broad.mit.edu	37	chr12	6567822	6567822	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctccagcttcccctaaaGtacgactgagcttggcaaac	10	11	7	13	1	1	1	0	1	1	0	3	2	2	1	3	1	4	4	3	1	4	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:6567822G>A	ENST00000266556.7	+	5	1081	c.916G>A	c.(916-918)Gta>Ata	p.V306I	TAPBPL_ENST00000545700.1_3'UTR|TAPBPL_ENST00000544021.1_3'UTR	NM_018009.4	NP_060479.3	Q9BX59	TPSNR_HUMAN	TAP binding protein-like	306	Ig-like C1-type.				antigen processing and presentation of endogenous peptide antigen via MHC class I	endoplasmic reticulum membrane|integral to membrane|microsome|plasma membrane				endometrium(2)|large_intestine(1)|skin(2)|upper_aerodigestive_tract(1)	6						TTCCCCTAAAGTACGACTGAG	0.522													A	6567822	G	A	6567822	3	1	585	1	0	0	0	0	1	0	0	0	15650	1029	36	2	934	2	TAPBPL	12	6567822	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		6567822	127284073	25	49062											
ATF7IP	55729	broad.mit.edu	37	chr12	14634097	14634097	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttatgcaggctcctgctgtTcggcaggtcaatccccaaaa	9	10	10	12	1	1	0	1	0	0	0	4	0	3	0	3	3	2	6	3	3	4	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:14634097T>C	ENST00000544627.1	+	13	3602	c.3282T>C	c.(3280-3282)gtT>gtC	p.V1094V	ATF7IP_ENST00000261168.4_Silent_p.V1086V|ATF7IP_ENST00000543189.1_Silent_p.V1085V|ATF7IP_ENST00000536444.1_Silent_p.V1085V|ATF7IP_ENST00000540793.1_Silent_p.V1086V			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	1086					DNA methylation|interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|regulation of RNA polymerase II transcriptional preinitiation complex assembly|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						CTCCTGCTGTTCGGCAGGTCA	0.453													C	14634097	T	C	14634097	2	2	585	1	0	0	0	0	0	0	0	1	1092	1770	62	3		3	ATF7IP	12	14634097	Silent	SNP	T	TCGA-HT-8109-01A-11D-2395-08	8066275	14634097	119217798	26	49063											
DDIT3	1649	broad.mit.edu	37	chr12	57911132	57911132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaggtcctcataccaggCttccagctcccagctggaca	8	9	9	15	0	1	0	1	0	0	0	4	1	4	1	4	3	4	4	4	3	1	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr12:57911132C>T	ENST00000551116.1	-	3	394	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	DDIT3_ENST00000547303.1_Missense_Mutation_p.A20T|DDIT3_ENST00000346473.3_Missense_Mutation_p.A20T|DDIT3_ENST00000552740.1_Missense_Mutation_p.A43T	NM_001195053.1|NM_001195054.1|NM_001195055.1|NM_001195056.1	NP_001181982.1|NP_001181983.1|NP_001181984.1|NP_001181985.1	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	20					cell cycle arrest|cell redox homeostasis|mRNA transcription from RNA polymerase II promoter|negative regulation of determination of dorsal identity|regulation of DNA-dependent transcription in response to stress|response to DNA damage stimulus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription factor binding		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCATACCAGGCTTCCAGCTCC	0.493			T	FUS	liposarcoma								T	57911132	C	T	57911132	3	4	585	1	0	0	0	0	1	0	0	0	4364	797	28	2	459	2	DDIT3	12	57911132	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	43277035	57911132	75940763	27	49064											
FLT3	2322	broad.mit.edu	37	chr13	28609684	28609684	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccaagggaattgtatgcAcagcacttgaccaggaaccc	12	7	11	11	0	0	1	0	1	0	0	0	3	0	3	3	2	4	3	3	2	4	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28609684A>G	ENST00000380982.4	-	12	1626	c.1545T>C	c.(1543-1545)tgT>tgC	p.C515C	FLT3_ENST00000537084.1_Silent_p.C515C|FLT3_ENST00000241453.7_Silent_p.C515C			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	515					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	AATTGTATGCACAGCACTTGA	0.438			"Mis, O"		"AML, ALL"								G	28609684	A	G	28609684	2	3	585	1	0	0	0	0	0	0	0	1	5991	157	6	3		3	FLT3	13	28609684	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		28609684	86560194	28	49065											
FLT3	2322	broad.mit.edu	37	chr13	28611413	28611413	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctggtgcttatgattgcaAaacttggatatgctgtttga	9	15	12	5	0	0	2	0	2	0	0	0	3	0	3	0	3	4	5	0	3	4	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr13:28611413A>G	ENST00000380982.4	-	10	1299	c.1218T>C	c.(1216-1218)ttT>ttC	p.F406F	FLT3_ENST00000537084.1_Silent_p.F406F|FLT3_ENST00000241453.7_Silent_p.F406F			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	406					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	TATGATTGCAAAACTTGGATA	0.378			"Mis, O"		"AML, ALL"								G	28611413	A	G	28611413	2	3	585	1	0	0	0	0	0	0	0	1	5991	11	1	3		3	FLT3	13	28611413	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08	1729	28611413	86558465	29	49066											
SDR39U1	56948	broad.mit.edu	37	chr14	24909494	24909494	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaaggtctgggcaaactcaGcattagtggcggaggatgga	11	7	15	8	1	2	0	1	0	1	0	2	3	2	3	1	6	2	2	1	6	3	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr14:24909494G>T	ENST00000554698.1	-	4	860	c.353C>A	c.(352-354)gCt>gAt	p.A118D	SDR39U1_ENST00000555365.1_Missense_Mutation_p.A59D|SDR39U1_ENST00000553930.1_Missense_Mutation_p.A101D|SDR39U1_ENST00000399390.1_Missense_Mutation_p.A131D|SDR39U1_ENST00000538105.2_Missense_Mutation_p.A144D|SDR39U1_ENST00000555561.1_5'UTR|SDR39U1_ENST00000399395.3_Missense_Mutation_p.A226D|KHNYN_ENST00000251343.5_3'UTR			Q9NRG7	D39U1_HUMAN	short chain dehydrogenase/reductase family 39U, member 1	252							binding			NS(1)|central_nervous_system(1)|large_intestine(2)|pancreas(1)	5						GGCAAACTCAGCATTAGTGGC	0.617													T	24909494	G	T	24909494	3	4	585	1	0	0	0	0	1	0	0	0	14065	971	34	4	208	4	SDR39U1	14	24909494	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		24909494	82440046	30	49067											
DUOX2	50506	broad.mit.edu	37	chr15	45398797	45398797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttgtagcttcttgtgttctCggccccggaaataggccacc	6	13	10	12	2	2	0	0	0	2	0	3	1	2	1	4	3	1	3	4	3	3	6			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:45398797C>T	ENST00000389039.6	-	16	2259	c.1874G>A	c.(1873-1875)cGa>cAa	p.R625Q	DUOX2_ENST00000603300.1_Missense_Mutation_p.R625Q			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	625					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTTGTGTTCTCGGCCCCGGAA	0.557													T	45398797	C	T	45398797	3	4	585	1	0	0	0	0	1	0	0	0	4840	884	31	1	2848	1	DUOX2	15	45398797	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08		45398797	57132595	31	49068											
HERC1	8925	broad.mit.edu	37	chr15	63972937	63972937	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgagaaactccaacacaCgtgccttcattacctctgtt	11	10	6	14	2	2	1	1	0	1	1	3	2	3	1	3	0	5	1	3	0	3	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:63972937C>T	ENST00000443617.2	-	35	6351	c.6264G>A	c.(6262-6264)acG>acA	p.T2088T	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2088	B30.2/SPRY.				protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCCAACACACGTGCCTTCAT	0.373													T	63972937	C	T	63972937	2	4	585	1	0	0	0	0	0	0	0	1	7112	523	19	1		1	HERC1	15	63972937	Silent	SNP	C	TCGA-HT-8109-01A-11D-2395-08	18574140	63972937	38558455	32	49069											
MYO9A	4649	broad.mit.edu	37	chr15	72190411	72190411	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattagaagactctgtattcAaagaaggaacaatctgatct	16	11	8	6	0	4	4	1	1	3	3	4	6	4	5	0	1	1	1	0	1	7	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr15:72190411A>T	ENST00000356056.5	-	25	4905	c.4433T>A	c.(4432-4434)tTg>tAg	p.L1478*	MYO9A_ENST00000444904.1_Nonsense_Mutation_p.L1459*|MYO9A_ENST00000564571.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Nonsense_Mutation_p.L1478*|MYO9A_ENST00000566885.1_Nonsense_Mutation_p.L1098*	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	1478	Tail.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTCTGTATTCAAAGAAGGAAC	0.393													T	72190411	A	T	72190411	4	4	585	1	0	0	0	0	0	1	0	0	10160	131	5	5	3285	5	MYO9A	15	72190411	Nonsense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08	8217474	72190411	30340981	33	49070											
PALB2	79728	broad.mit.edu	37	chr16	23646265	23646265	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgttaacaatcgacaggctAgaagttggcaaaagtggttc	13	10	11	7	1	0	1	0	0	0	1	2	2	0	1	0	3	1	5	0	3	6	4			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr16:23646265A>G	ENST00000261584.4	-	4	1754	c.1602T>C	c.(1600-1602)tcT>tcC	p.S534S		NM_024675.3	NP_078951.2	Q86YC2	PALB2_HUMAN	partner and localizer of BRCA2	534					double-strand break repair via homologous recombination	nucleoplasm	DNA binding|protein binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(3)	55				GBM - Glioblastoma multiforme(48;0.0167)		TCGACAGGCTAGAAGTTGGCA	0.418			"F, N, Mis"			"Wilms tumor, medulloblastoma, AML ,breast"		Involved in tolerance or repair of DNA crosslinks					G	23646265	A	G	23646265	2	3	585	1	0	0	0	0	0	0	0	1	11482	407	15	3		3	PALB2	16	23646265	Silent	SNP	A	TCGA-HT-8109-01A-11D-2395-08		23646265	66708488	34	49071											
GDPD1	284161	broad.mit.edu	37	chr17	57348316	57348316	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctaaaagaaccacacaccAtgtccagaagtcaaaagttt	17	7	7	10	0	1	2	1	0	0	2	2	2	2	2	3	1	1	2	3	1	6	2			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:57348316A>G	ENST00000284116.4	+	8	867	c.730A>G	c.(730-732)Atg>Gtg	p.M244V	GDPD1_ENST00000581276.1_Missense_Mutation_p.M244V|GDPD1_ENST00000581140.1_Missense_Mutation_p.M244V	NM_182569.3	NP_872375.2	Q8N9F7	GDPD1_HUMAN	glycerophosphodiester phosphodiesterase domain containing 1	244	GDPD.				glycerol metabolic process|lipid metabolic process	cytoplasm|integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			endometrium(1)|kidney(1)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	6	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					ACCACACACCATGTCCAGAAG	0.279													G	57348316	A	G	57348316	3	3	585	1	0	0	0	0	1	0	0	0	6379	217	8	3	760	3	GDPD1	17	57348316	Missense_Mutation	SNP	A	TCGA-HT-8109-01A-11D-2395-08		57348316	23846894	35	49072											
SMARCD2	6603	broad.mit.edu	37	chr17	61911645	61911645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccctcgtctgcgtgtgcactCccagcagccttgccaatcgg	5	9	10	17	3	1	0	0	0	1	0	4	0	2	0	4	1	5	2	4	1	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr17:61911645C>T	ENST00000448276.2	-	8	1230	c.965G>A	c.(964-966)gGa>gAa	p.G322E	SMARCD2_ENST00000225742.9_Missense_Mutation_p.G247E|SMARCD2_ENST00000323347.10_Missense_Mutation_p.G274E	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	322	SWIB.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						CGTGTGCACTCCCAGCAGCCT	0.567											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	61911645	C	T	61911645	3	4	585	1	0	0	0	0	1	0	0	0	14872	855	30	2	654	2	SMARCD2	17	61911645	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	4563329	61911645	19283565	36	49073											
SMARCA4	6597	broad.mit.edu	37	chr19	11135091	11135091	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggcgtgctgctgactGatggctccgagaaggacaag	10	6	15	10	2	0	3	0	2	0	1	1	5	1	4	2	3	2	3	2	3	3	0			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:11135091G>T	ENST00000358026.2	+	21	3342	c.3058G>T	c.(3058-3060)Gat>Tat	p.D1020Y	SMARCA4_ENST00000429416.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000344626.4_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000589677.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000444061.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000413806.3_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000541122.2_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000590574.1_Missense_Mutation_p.D1020Y|SMARCA4_ENST00000450717.3_Missense_Mutation_p.D1020Y	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1020					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACTGATGGCTCCGA	0.627			"F, N, Mis"		NSCLC								T	11135091	G	T	11135091	3	4	585	1	0	0	0	0	1	0	0	0	14864	1290	45	4	3136	4	SMARCA4	19	11135091	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08		11135091	47993892	37	49074											
ZNF490	57474	broad.mit.edu	37	chr19	12692359	12692359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttggtttctgttcagtgtgaGatctcatgtgcctattaagg	7	17	11	6	0	3	1	2	1	2	1	4	2	3	1	1	2	1	2	1	2	2	5			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:12692359G>A	ENST00000311437.6	-	5	652	c.530C>T	c.(529-531)tCt>tTt	p.S177F		NM_020714.2	NP_065765.1	Q9ULM2	ZN490_HUMAN	zinc finger protein 490	177					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	18						TTCAGTGTGAGATCTCATGTG	0.443													A	12692359	G	A	12692359	3	1	585	1	0	0	0	0	1	0	0	0	18042	942	33	2	1063	2	ZNF490	19	12692359	Missense_Mutation	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1557268	12692359	46436624	38	49075											
IL27RA	9466	broad.mit.edu	37	chr19	14157294	14157294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcagcatcgctgggagcacGgagctactggtgacctggca	9	6	15	11	2	0	1	0	1	0	0	1	3	0	3	1	4	5	6	1	4	1	1			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:14157294G>A	ENST00000263379.2	+	8	1130	c.1005G>A	c.(1003-1005)acG>acA	p.T335T		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	335	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						CTGGGAGCACGGAGCTACTGG	0.627													A	14157294	G	A	14157294	2	1	585	1	0	0	0	0	0	0	0	1	7739	1103	39	1		1	IL27RA	19	14157294	Silent	SNP	G	TCGA-HT-8109-01A-11D-2395-08	1464935	14157294	44971689	39	49076											
ZNF681	148213	broad.mit.edu	37	chr19	23927189	23927189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggtttctctccagtaTgaattatcttatgtgtagta	9	18	9	5	0	2	1	0	1	2	0	4	1	3	1	1	1	0	5	1	1	7	7	rs145416258	byFrequency	TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:23927189T>C	ENST00000402377.3	-	4	1304	c.1163A>G	c.(1162-1164)cAt>cGt	p.H388R	ZNF681_ENST00000395385.3_Missense_Mutation_p.H319R	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	388					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				CTCTCCAGTATGAATTATCTT	0.398													C	23927189	T	C	23927189	3	2	585	1	0	0	0	0	1	0	0	0	18189	1464	51	3	778	3	ZNF681	19	23927189	Missense_Mutation	SNP	T	TCGA-HT-8109-01A-11D-2395-08	9769895	23927189	35201794	40	49077											
ZNF229	7772	broad.mit.edu	37	chr19	44932761	44932761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcttctcgccagtgtgcactCtcttatgactaaggagacct	8	12	9	12	1	2	2	0	1	2	1	4	3	2	2	2	1	1	2	2	1	2	3			TCGA-HT-8109-01A-11D-2395-08	TCGA-HT-8109-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	61523043-c989-4ebc-8d20-80f1c578aa38	a2939a7a-eec5-4cf0-821a-f0bb89ad36e7	g.chr19:44932761C>T	ENST00000291187.4	-	6	2499	c.2177G>A	c.(2176-2178)aGa>aAa	p.R726K	ZNF229_ENST00000591289.1_Intron|ZNF229_ENST00000588931.1_Missense_Mutation_p.R732K|CTC-512J12.4_ENST00000588655.1_RNA	NM_001278510.1	NP_001265439.1	Q9UJW7	ZN229_HUMAN	zinc finger protein 229	732					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|central_nervous_system(2)|endometrium(6)|large_intestine(3)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	45		Prostate(69;0.0352)				AGTGTGCACTCTCTTATGACT	0.517													T	44932761	C	T	44932761	3	4	585	1	0	0	0	0	1	0	0	0	17883	913	32	2	286	2	ZNF229	19	44932761	Missense_Mutation	SNP	C	TCGA-HT-8109-01A-11D-2395-08	21005572	44932761	14196222	41	49078											
IQGAP3	128239	broad.mit.edu	37	chr1	156499981	156499981	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	agtcggcgtaggttccgcagGacgcgccgctgcttctctgc	4	9	14	14	6	1	0	0	0	1	0	4	1	2	1	2	3	2	5	2	3	1	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:156499981G>C	ENST00000361170.2	-	34	4330	c.4320C>G	c.(4318-4320)gtC>gtG	p.V1440V		NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1440					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)					GGTTCCGCAGGACGCGCCGCT	0.647													C	156499981	G	C	156499981	2	2	586	1	0	0	0	0	0	0	0	1	7874	1161	41	4		4	IQGAP3	1	156499981	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		156499981	92750640	1	49079											
RXRG	6258	broad.mit.edu	37	chr1	165389159	165389159	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttaaccagagatccgggGctggtggatgggtagttcat	8	12	15	6	1	1	1	1	0	0	1	2	3	2	2	2	5	1	4	2	5	2	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:165389159G>A	ENST00000359842.5	-	3	692	c.390C>T	c.(388-390)agC>agT	p.S130S	RXRG_ENST00000470566.1_5'UTR	NM_001256570.1|NM_006917.4	NP_001243499.1|NP_008848.1	P48443	RXRG_HUMAN	retinoid X receptor, gamma	130	Modulating (By similarity).				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid-X receptor activity|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			endometrium(1)|kidney(3)|large_intestine(6)|lung(22)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	38	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)				Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tretinoin(DB00755)	GAGATCCGGGGCTGGTGGATG	0.522													A	165389159	G	A	165389159	2	1	586	1	0	0	0	0	0	0	0	1	13856	1194	42	2		2	RXRG	1	165389159	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	8889178	165389159	83861462	2	49080											
H3F3A	3020	broad.mit.edu	37	chr1	226252059	226252059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggtctctgtaccatggctCgtacaaagcagactgcccgc	9	8	11	13	2	1	1	0	0	1	1	3	2	1	1	2	2	4	4	2	2	3	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:226252059C>T	ENST00000366814.3	+	2	128	c.7C>T	c.(7-9)Cgt>Tgt	p.R3C	H3F3A_ENST00000366813.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366816.1_Missense_Mutation_p.R3C|H3F3A_ENST00000366815.3_Missense_Mutation_p.R3C					H3 histone, family 3A									p.R3C(1)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		TACCATGGCTCGTACAAAGCA	0.498			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	226252059	C	T	226252059	3	4	586	1	0	0	0	0	1	0	0	0	6988	884	31	1	9	1	H3F3A	1	226252059	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	60862900	226252059	22998562	3	49081											
OBSCN	84033	broad.mit.edu	37	chr1	228461596	228461596	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccacggtgacctggctcaagGatggtgtggagattcgccgc	7	8	15	11	3	1	2	1	1	0	1	2	4	1	3	3	5	0	1	3	5	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:228461596G>A	ENST00000366707.4	+	0	5307				RP5-1139B12.2_ENST00000602517.1_RNA|OBSCN_ENST00000359599.6_Missense_Mutation_p.D602N|OBSCN_ENST00000422127.1_Missense_Mutation_p.D1755N|OBSCN_ENST00000570156.2_Missense_Mutation_p.D2130N|OBSCN_ENST00000284548.11_Missense_Mutation_p.D1755N|OBSCN_ENST00000366709.4_De_novo_Start_OutOfFrame			Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF						apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CTGGCTCAAGGATGGTGTGGA	0.647													A	228461596	G	A	228461596	1	1	586	1	0	0	0	0	0	0	0	0	10888	1174	41	2		2	OBSCN	1	228461596	Translation_Start_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08	2209537	228461596	20789025	4	49082											
HEATR1	55127	broad.mit.edu	37	chr1	236744701	236744701	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgaataactgaaaaacaTcttctagatgcacctaatta	17	12	4	8	0	2	3	0	2	2	1	2	3	2	3	1	0	3	1	1	0	7	6			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr1:236744701T>A	ENST00000366582.3	-	20	2690	c.2576A>T	c.(2575-2577)gAt>gTt	p.D859V	HEATR1_ENST00000366581.2_Missense_Mutation_p.D859V	NM_018072.5	NP_060542.4	Q9H583	HEAT1_HUMAN	HEAT repeat containing 1	859					rRNA processing	nucleolus|ribonucleoprotein complex	protein binding			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(18)|lung(28)|ovary(3)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	87	Ovarian(103;0.0634)|Breast(184;0.133)	all_cancers(173;0.0255)|Prostate(94;0.175)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			CTGAAAAACATCTTCTAGATG	0.328													A	236744701	T	A	236744701	3	1	586	1	0	0	0	0	1	0	0	0	7082	1435	50	5	3962	5	HEATR1	1	236744701	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08	8283105	236744701	12505920	5	49083											
SRBD1	55133	broad.mit.edu	37	chr2	45620175	45620175	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaatctttctgcaattttCtccattccttccttttcaag	7	19	3	12	0	4	0	1	0	3	0	7	0	6	0	3	0	2	2	3	0	3	7			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:45620175C>T	ENST00000263736.4	-	20	2669	c.2607G>A	c.(2605-2607)gaG>gaA	p.E869E	SRBD1_ENST00000535761.1_Silent_p.E388E|SRBD1_ENST00000490133.1_5'UTR	NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	869					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			CTGCAATTTTCTCCATTCCTT	0.403													T	45620175	C	T	45620175	2	4	586	1	0	0	0	0	0	0	0	1	15229	912	32	2		2	SRBD1	2	45620175	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45620175	197579198	6	49084											
PDK1	5163	broad.mit.edu	37	chr2	173431601	173431601	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagatggctatgaaaatgctAggcgtctgtgtgatttgtat	10	15	12	4	1	1	3	0	2	1	1	1	3	1	3	0	2	1	3	0	2	6	5	rs148646668		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:173431601A>T	ENST00000282077.3	+	6	891	c.709A>T	c.(709-711)Agg>Tgg	p.R237W	PDK1_ENST00000544863.1_Missense_Mutation_p.R82W|PDK1_ENST00000392571.2_Missense_Mutation_p.R257W|PDK1_ENST00000410055.1_Missense_Mutation_p.R237W|PDK1_ENST00000543905.1_Missense_Mutation_p.R161W			Q15118	PDK1_HUMAN	pyruvate dehydrogenase kinase, isozyme 1		Histidine kinase.				glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate|small GTPase mediated signal transduction	mitochondrial matrix	ATP binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			central_nervous_system(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)	16			OV - Ovarian serous cystadenocarcinoma(117;0.12)			TGAAAATGCTAGGCGTCTGTG	0.323									Autosomal Dominant Polycystic Kidney Disease				T	173431601	A	T	173431601	3	4	586	1	0	0	0	0	1	0	0	0	11751	411	15	5	731	5	PDK1	2	173431601	Missense_Mutation	SNP	A	TCGA-HT-8110-01A-11D-2395-08	127811426	173431601	69767772	7	49085											
TTN	7273	broad.mit.edu	37	chr2	179443857	179443857	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctttatggagatagttcCttccttggtgccagcaacat	10	13	8	10	0	0	1	0	0	0	1	2	2	2	1	4	2	4	2	4	2	4	6			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr2:179443857C>G	ENST00000589042.1	-	320	68124	c.67900G>C	c.(67900-67902)Gga>Cga	p.G22634R	TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G13694R|TTN_ENST00000460472.2_Missense_Mutation_p.G13569R|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20066R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G13761R|TTN_ENST00000591111.1_Missense_Mutation_p.G20993R|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20993	Fibronectin type-III 64.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GAGATAGTTCCTTCCTTGGTG	0.443													G	179443857	C	G	179443857	3	3	586	1	0	0	0	0	1	0	0	0	16837	690	24	4	40251	4	TTN	2	179443857	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6012256	179443857	63755516	8	49086											
IMPDH2	3615	broad.mit.edu	37	chr3	49065256	49065256	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtgattgggataccgcAgaaaccatgccgggccttgg	8	9	14	10	2	1	2	0	1	1	1	1	3	1	3	4	3	3	1	4	3	2	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:49065256A>T	ENST00000326739.4	-	5	457	c.418T>A	c.(418-420)Tgc>Agc	p.C140S		NM_000884.2	NP_000875.2	P12268	IMDH2_HUMAN	IMP (inosine 5'-monophosphate) dehydrogenase 2	140	CBS 1.				GMP biosynthetic process|purine base metabolic process	cytosol|nucleus	IMP dehydrogenase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(2)|stomach(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|NADH(DB00157)	GGGATACCGCAGAAACCATGC	0.542													T	49065256	A	T	49065256	3	4	586	1	0	0	0	0	1	0	0	0	7785	188	7	5	1166	5	IMPDH2	3	49065256	Missense_Mutation	SNP	A	TCGA-HT-8110-01A-11D-2395-08		49065256	148957174	9	49087											
FAIM	55179	broad.mit.edu	37	chr3	138341217	138341217	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaaaccaccaatacttGggtattacacatggatggtg	15	10	8	8	0	1	0	1	0	0	0	1	1	1	1	2	3	3	1	2	3	6	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr3:138341217G>A	ENST00000338446.4	+	4	1084	c.401G>A	c.(400-402)tGg>tAg	p.W134*	FAIM_ENST00000464668.1_Nonsense_Mutation_p.W100*|FAIM_ENST00000393035.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000393034.2_Nonsense_Mutation_p.W100*|FAIM_ENST00000360570.3_Nonsense_Mutation_p.W122*	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	100					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						ACCAATACTTGGGTATTACAC	0.333													A	138341217	G	A	138341217	4	1	586	1	0	0	0	0	0	1	0	0	5420	1357	47	2	459	2	FAIM	3	138341217	Nonsense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	89275961	138341217	59681213	10	49088											
SEL1L3	23231	broad.mit.edu	37	chr4	25835187	25835188	+	Frame_Shift_Del	DEL	TA	TA	-																															ataaagccacaatgaaacagTaaacctataagagtgagggg																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:25835187_25835188delTA	ENST00000399878.3	-	4	986_987	c.864_865delTA	c.(862-867)tttactfs	p.T289fs	SEL1L3_ENST00000502949.1_Frame_Shift_Del_p.T136fs|SEL1L3_ENST00000264868.5_Frame_Shift_Del_p.T254fs|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	289						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						AATGAAACAGTAAACCTATAAG	0.376													-	25835188	TA	-	25835187	7	5	586	1	0	1	0	1	0	0	0	0	14105	1638	57	0	2617	0	SEL1L3	4	25835187	Frame_Shift_Del	DEL	TA	TCGA-HT-8110-01A-11D-2395-08		25835187	165319089	11	49089											
HHIP	64399	broad.mit.edu	37	chr4	145636526	145636526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actctgtctcggcactagtgGgtcctgtagaggctactttt	6	14	11	10	1	2	1	0	0	2	1	4	1	3	1	1	3	1	3	1	3	3	5			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:145636526G>A	ENST00000296575.3	+	10	2277	c.1622G>A	c.(1621-1623)gGg>gAg	p.G541E		NM_022475.2	NP_071920.1	Q96QV1	HHIP_HUMAN	hedgehog interacting protein	541						cytoplasm|extracellular region	catalytic activity|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	33	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0185)		GGCACTAGTGGGTCCTGTAGA	0.428													A	145636526	G	A	145636526	3	1	586	1	0	0	0	0	1	0	0	0	7147	1232	43	2	1660	2	HHIP	4	145636526	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	119801339	145636526	45517750	12	49090											
RNF175	285533	broad.mit.edu	37	chr4	154636798	154636798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagctccttgtaggcaacCggctgacactgtagaactat	12	10	9	10	1	0	2	0	1	0	1	1	2	1	2	2	2	3	5	2	2	6	5			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr4:154636798C>T	ENST00000274068.4	-	6	639	c.263G>A	c.(262-264)cGg>cAg	p.R88Q	RNF175_ENST00000347063.4_Missense_Mutation_p.R216Q			Q8N4F7	RN175_HUMAN	ring finger protein 175	216						integral to membrane	zinc ion binding			breast(1)|endometrium(1)|large_intestine(5)|lung(1)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	13	all_hematologic(180;0.093)	Renal(120;0.118)				TGTAGGCAACCGGCTGACACT	0.502													T	154636798	C	T	154636798	3	4	586	1	0	0	0	0	1	0	0	0	13554	652	23	1	351	1	RNF175	4	154636798	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	9000272	154636798	36517478	13	49091											
PRDM9	56979	broad.mit.edu	37	chr5	23522989	23522989	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccaacaatggatactccTggctggtaagaagagcctgc	12	7	11	11	0	0	2	0	0	0	2	1	3	1	3	3	3	5	2	3	3	5	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr5:23522989T>A	ENST00000296682.3	+	8	1059	c.877T>A	c.(877-879)Tgg>Agg	p.W293R		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	293	SET.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						TGGATACTCCTGGCTGGTAAG	0.493										HNSCC(3;0.000094)			A	23522989	T	A	23522989	3	1	586	1	0	0	0	0	1	0	0	0	12549	1580	55	5	903	5	PRDM9	5	23522989	Missense_Mutation	SNP	T	TCGA-HT-8110-01A-11D-2395-08		23522989	157392271	14	49092											
PRICKLE4	29964	broad.mit.edu	37	chr6	41753227	41753227	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catgatggacaactctactgCggccgtcatcatgcagagtt	10	10	10	11	2	3	2	2	1	1	1	3	3	3	3	1	2	4	2	1	2	2	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:41753227C>T	ENST00000359201.5	+	5	1120	c.531C>T	c.(529-531)tgC>tgT	p.C177C	PRICKLE4_ENST00000394263.1_Silent_p.C177C|PRICKLE4_ENST00000458694.1_Silent_p.C177C|PRICKLE4_ENST00000394260.1_Silent_p.C137C|PRICKLE4_ENST00000394259.1_Silent_p.C137C			Q2TBC4	PRIC4_HUMAN	prickle homolog 4 (Drosophila)	137	LIM zinc-binding 2.					nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	13	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;8.38e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			AACTCTACTGCGGCCGTCATC	0.622													T	41753227	C	T	41753227	2	4	586	1	0	0	0	0	0	0	0	1	12575	776	27	1		1	PRICKLE4	6	41753227	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		41753227	129361840	15	49093											
KIAA1244	57221	broad.mit.edu	37	chr6	138601169	138601169	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggtgcagaccagcggcGtgctgatggtcttctctcag	7	9	14	11	2	3	2	1	1	2	1	4	2	3	2	1	3	4	3	1	3	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr6:138601169G>A	ENST00000251691.4	+	14	2495	c.2329G>A	c.(2329-2331)Gtg>Atg	p.V777M		NM_020340.4	NP_065073.3	Q5TH69	BIG3_HUMAN	KIAA1244	777	SEC7.				regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		GACCAGCGGCGTGCTGATGGT	0.547													A	138601169	G	A	138601169	3	1	586	1	0	0	0	0	1	0	0	0	8275	1145	40	1	2383	1	KIAA1244	6	138601169	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	96847942	138601169	32513898	16	49094											
CDCA7L	55536	broad.mit.edu	37	chr7	21956473	21956473	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccaacaaactcttcatcatCactgggggcgttaaagatgt	12	10	9	10	1	4	1	3	0	1	1	4	1	4	1	1	2	2	1	1	2	4	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:21956473C>T	ENST00000406877.3	-	2	343	c.64G>A	c.(64-66)Gat>Aat	p.D22N	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.D22N|CDCA7L_ENST00000356195.5_5'UTR	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	22					positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						TCTTCATCATCACTGGGGGCG	0.463													T	21956473	C	T	21956473	3	4	586	1	0	0	0	0	1	0	0	0	3121	826	29	2	1336	2	CDCA7L	7	21956473	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		21956473	137182190	17	49095											
EGFR	1956	broad.mit.edu	37	chr7	55211080	55211080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggaaaacctgcagatcatcaGaggaaatatgtactacgaaa	18	7	9	7	1	2	2	2	0	0	2	2	5	2	4	1	2	4	2	1	2	7	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:55211080G>A	ENST00000275493.2	+	3	500	c.323G>A	c.(322-324)aGa>aAa	p.R108K	EGFR_ENST00000455089.1_Missense_Mutation_p.R108K|EGFR_ENST00000442591.1_Missense_Mutation_p.R108K|EGFR_ENST00000342916.3_Missense_Mutation_p.R108K|EGFR_ENST00000420316.2_Missense_Mutation_p.R108K|EGFR_ENST00000344576.2_Missense_Mutation_p.R108K|EGFR_ENST00000454757.2_Missense_Mutation_p.R55K	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	108					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R108K(6)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CAGATCATCAGAGGAAATATG	0.423		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55211080	G	A	55211080	3	1	586	1	0	0	0	0	1	0	0	0	5006	942	33	2	333	2	EGFR	7	55211080	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	33254607	55211080	103927583	18	49096											
CALN1	83698	broad.mit.edu	37	chr7	71571179	71571179	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatggccagctccacctcGcttggcatgtaccccaaaga	10	8	9	14	1	0	2	0	1	0	1	2	2	1	2	5	2	2	4	5	2	2	2	rs139754746		TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:71571179G>A	ENST00000395275.2	-	4	733	c.345C>T	c.(343-345)agC>agT	p.S115S	CALN1_ENST00000405452.2_Silent_p.S73S|CALN1_ENST00000412588.1_Silent_p.S115S|CALN1_ENST00000395276.2_Silent_p.S73S|CALN1_ENST00000431984.1_Silent_p.S73S|CALN1_ENST00000329008.5_Silent_p.S73S	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	73						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				GCTCCACCTCGCTTGGCATGT	0.592													A	71571179	G	A	71571179	2	1	586	1	0	0	0	0	0	0	0	1	2617	1078	38	1		1	CALN1	7	71571179	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	16360099	71571179	87567484	19	49097											
LEP	3952	broad.mit.edu	37	chr7	127892092	127892092	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgcattggggaaccctgtgCggattcttgtggctttggcc	5	13	14	9	1	1	0	0	0	1	0	1	2	1	2	2	5	3	2	2	5	1	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr7:127892092C>T	ENST00000308868.4	+	2	72	c.21C>T	c.(19-21)tgC>tgT	p.C7C		NM_000230.2	NP_000221.1	P41159	LEP_HUMAN	leptin	7					adult feeding behavior|energy reserve metabolic process|negative regulation of appetite|placenta development|positive regulation of developmental growth	extracellular space				endometrium(1)|large_intestine(2)|lung(5)	8						GAACCCTGTGCGGATTCTTGT	0.488													T	127892092	C	T	127892092	2	4	586	1	0	0	0	0	0	0	0	1	8786	776	27	1		1	LEP	7	127892092	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	56320913	127892092	31246571	20	49098											
B4GALT1	2683	broad.mit.edu	37	chr9	33135343	33135343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgggggcatagcggccGcccatcttcacatttgggtt	5	11	12	13	2	2	0	1	0	1	0	3	0	3	0	3	4	1	2	3	4	1	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:33135343G>A	ENST00000379731.4	-	2	678	c.492C>T	c.(490-492)ggC>ggT	p.G164G	B4GALT1_ENST00000535206.1_Silent_p.G164G	NM_001497.3	NP_001488.2	P15291	B4GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 1	164					oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	basolateral plasma membrane|brush border membrane|desmosome|external side of plasma membrane|extracellular region|glycocalyx|Golgi cisterna membrane|Golgi trans cisterna|integral to membrane	alpha-tubulin binding|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity|beta-tubulin binding|lactose synthase activity|metal ion binding|N-acetyllactosamine synthase activity|protein binding|protein homodimerization activity			endometrium(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)	14			LUSC - Lung squamous cell carcinoma(29;0.0084)	GBM - Glioblastoma multiforme(74;0.121)	N-Acetyl-D-glucosamine(DB00141)	CATAGCGGCCGCCCATCTTCA	0.557													A	33135343	G	A	33135343	2	1	586	1	0	0	0	0	0	0	0	1	1275	1074	38	1		1	B4GALT1	9	33135343	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		33135343	108078088	21	49099											
C5	727	broad.mit.edu	37	chr9	123812513	123812513	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attaaaaaacaaagtattccCaaaaggcccatggttggagg	17	8	9	7	0	0	0	0	0	0	0	1	1	1	1	2	4	1	2	2	4	7	4	rs35352264	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:123812513C>T	ENST00000223642.1	-	1	41	c.12G>A	c.(10-12)ttG>ttA	p.L4L		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	4					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	AAAGTATTCCCAAAAGGCCCA	0.373													T	123812513	C	T	123812513	2	4	586	1	0	0	0	0	0	0	0	1	2302	593	21	2		2	C5	9	123812513	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	90677170	123812513	17400918	22	49100											
RABEPK	10244	broad.mit.edu	37	chr9	127996226	127996226	+	Frame_Shift_Del	DEL	C	C	-																															atgaatacagaaggggaaatCtatgacgattgtattgtgac																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr9:127996226delC	ENST00000373538.3	+	8	1396	c.1086delC	c.(1084-1086)atcfs	p.I362fs	RABEPK_ENST00000394125.4_Frame_Shift_Del_p.I362fs|RABEPK_ENST00000394124.4_3'UTR|RABEPK_ENST00000259460.8_Frame_Shift_Del_p.I311fs	NM_005833.3	NP_005824.2	Q7Z6M1	RABEK_HUMAN	Rab9 effector protein with kelch motifs	362					receptor-mediated endocytosis|vesicle docking involved in exocytosis	endosome membrane|plasma membrane				NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15						AAGGGGAAATCTATGACGATT	0.388													-	127996226	C	-	127996226	7	5	586	1	0	1	0	1	0	0	0	0	13051	903	32	0	1112	0	RABEPK	9	127996226	Frame_Shift_Del	DEL	C	TCGA-HT-8110-01A-11D-2395-08	4183713	127996226	13217205	23	49101											
PTEN	5728	broad.mit.edu	37	chr10	89624228	89624228	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacaggctcccagacaTgacagccatcatcaaagaga	15	4	8	14	0	2	3	2	1	0	2	3	4	3	3	3	1	2	1	3	1	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:89624228T>A	ENST00000371953.3	+	1	1359	c.2T>A	c.(1-3)aTg>aAg	p.M1K		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	1					activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.M1fs*7(1)|p.M1fs*24(1)|p.M1T(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CTCCCAGACATGACAGCCATC	0.507		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89624228	T	A	89624228	1	1	586	1	0	0	0	0	0	0	0	0	12823	1464	51	5		5	PTEN	10	89624228	Translation_Start_Site	SNP	T	TCGA-HT-8110-01A-11D-2395-08		89624228	45910519	24	49102											
PLCE1	51196	broad.mit.edu	37	chr10	96053387	96053387	+	Frame_Shift_Del	DEL	T	T	-																															cagcatcatttaacaaaacaTctggaaaaagtaaagtcact																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr10:96053387delT	ENST00000371380.3	+	22	5393	c.5158delT	c.(5158-5160)tctfs	p.S1720fs	PLCE1_ENST00000371385.3_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000371375.1_Frame_Shift_Del_p.S1412fs|PLCE1_ENST00000260766.3_Frame_Shift_Del_p.S1720fs			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1		Required for activation by RHOA, RHOB, GNA12, GNA13 and G-beta gamma (By similarity).				activation of MAPK activity|activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cell proliferation|cytoskeleton organization|diacylglycerol biosynthetic process|elevation of cytosolic calcium ion concentration|epidermal growth factor receptor signaling pathway|glomerulus development|heart development|lipid catabolic process|Ras protein signal transduction|regulation of cell growth|regulation of G-protein coupled receptor protein signaling pathway|regulation of Ras protein signal transduction|regulation of smooth muscle contraction	cytosol|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|phosphatidylinositol phospholipase C activity|Ras GTPase binding|receptor signaling protein activity			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				TAACAAAACATCTGGAAAAAG	0.388													-	96053387	T	-	96053387	7	5	586	1	0	1	0	1	0	0	0	0	12111	1435	50	0	5530	0	PLCE1	10	96053387	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08	6429159	96053387	39481360	25	49103											
IFITM1	8519	broad.mit.edu	37	chr11	314978	314978	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaggcctatgcctccacCgccaagtgcctgaacatctg	8	7	9	17	1	1	1	0	1	1	0	2	1	2	1	7	1	3	0	7	1	3	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr11:314978C>T	ENST00000408968.3	+	2	561	c.243C>T	c.(241-243)acC>acT	p.T81T	IFITM1_ENST00000528780.1_Silent_p.T81T|IFITM1_ENST00000328221.5_Silent_p.T81T	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	81					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		ATGCCTCCACCGCCAAGTGCC	0.572													T	314978	C	T	314978	2	4	586	1	0	0	0	0	0	0	0	1	7584	639	23	1		1	IFITM1	11	314978	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08		314978	134691538	26	49104											
NTN4	59277	broad.mit.edu	37	chr12	96181099	96181099	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgacaagtcagatccGtgttctcactgtagaagcag	10	9	11	11	2	2	2	2	0	1	2	4	3	3	2	2	0	2	4	2	0	3	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:96181099G>A	ENST00000343702.4	-	2	651	c.203C>T	c.(202-204)aCg>aTg	p.T68M	NTN4_ENST00000553059.1_Missense_Mutation_p.T68M|NTN4_ENST00000344911.4_Missense_Mutation_p.T31M|NTN4_ENST00000538383.1_Missense_Mutation_p.T31M	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	68	Laminin N-terminal.			T -> K (in Ref. 1; AAG30822).	axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						AGTCAGATCCGTGTTCTCACT	0.537													A	96181099	G	A	96181099	3	1	586	1	0	0	0	0	1	0	0	0	10778	1145	40	1	1719	1	NTN4	12	96181099	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		96181099	37670796	27	49105											
ACADS	35	broad.mit.edu	37	chr12	121176335	121176335	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaccagggcggtccccacaGcaaaccctggacatgggccg	9	4	13	15	2	0	1	0	1	0	0	1	2	1	2	5	4	2	1	5	4	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr12:121176335G>A	ENST00000242592.4	+	7	946		c.e7-1		ACADS_ENST00000411593.2_Splice_Site	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain							mitochondrial matrix	butyryl-CoA dehydrogenase activity			central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	GGTCCCCACAGCAAACCCTGG	0.682													A	121176335	G	A	121176335	5	1	586	1	0	0	0	0	0	0	1	0	114	985	34	2	821	2	ACADS	12	121176335	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08	24995236	121176335	12675560	28	49106											
F7	2155	broad.mit.edu	37	chr13	113770051	113770051	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgaccacacgggcaccaagCgctcctgtcggtgccacgag	8	5	13	15	4	0	1	0	1	0	0	2	2	1	1	4	2	2	2	4	2	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr13:113770051C>T	ENST00000375581.3	+	6	543	c.508C>T	c.(508-510)Cgc>Tgc	p.R170C	F7_ENST00000541084.1_Missense_Mutation_p.R101C|F7_ENST00000346342.3_Missense_Mutation_p.R148C	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	170	EGF-like 2.				anti-apoptosis|blood coagulation, extrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of leukocyte chemotaxis|positive regulation of platelet-derived growth factor receptor signaling pathway|positive regulation of positive chemotaxis|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|Golgi lumen|plasma membrane	calcium ion binding|glycoprotein binding|serine-type endopeptidase activity			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GGGCACCAAGCGCTCCTGTCG	0.617													T	113770051	C	T	113770051	3	4	586	1	0	0	0	0	1	0	0	0	5391	768	27	1	530	1	F7	13	113770051	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		113770051	1399827	29	49107											
KCNK10	54207	broad.mit.edu	37	chr14	88652226	88652226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctccggccccttcaggcGcaggttgttgggccggttgt	2	11	15	13	3	1	0	1	0	0	0	2	0	2	0	4	5	1	5	4	5	0	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr14:88652226G>A	ENST00000340700.5	-	7	1721	c.1270C>T	c.(1270-1272)Cgc>Tgc	p.R424C	KCNK10_ENST00000319231.5_Missense_Mutation_p.R429C|KCNK10_ENST00000312350.5_Missense_Mutation_p.R429C	NM_021161.4	NP_066984.1	P57789	KCNKA_HUMAN	potassium channel, subfamily K, member 10	424					signal transduction	integral to membrane	potassium channel activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	47						CCCTTCAGGCGCAGGTTGTTG	0.607													A	88652226	G	A	88652226	3	1	586	1	0	0	0	0	1	0	0	0	8117	1087	38	1	350	1	KCNK10	14	88652226	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		88652226	18697314	30	49108											
TGM7	116179	broad.mit.edu	37	chr15	43574758	43574758	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggtccagaacctgccacccGttgtatcctggtgggagatc	7	9	13	12	1	0	2	0	0	0	2	3	3	2	2	5	3	2	2	5	3	2	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:43574758G>A	ENST00000452443.2	-	8	1069	c.1065C>T	c.(1063-1065)aaC>aaT	p.N355N		NM_052955.2	NP_443187.1	Q96PF1	TGM7_HUMAN	transglutaminase 7	355					peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(2)|prostate(4)|skin(1)	39		all_cancers(109;2.12e-14)|all_epithelial(112;1.99e-12)|Lung NSC(122;2.46e-08)|all_lung(180;2.75e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;9.14e-07)	L-Glutamine(DB00130)	CCTGCCACCCGTTGTATCCTG	0.562													A	43574758	G	A	43574758	2	1	586	1	0	0	0	0	0	0	0	1	15935	1136	40	1		1	TGM7	15	43574758	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08		43574758	58956634	31	49109											
SCAPER	49855	broad.mit.edu	37	chr15	77064287	77064287	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcacatcatccaatgtactCactgtgaactaacaaaacgt	15	11	4	11	1	3	1	3	1	0	0	4	1	4	1	1	0	4	1	1	0	6	3			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr15:77064287C>T	ENST00000538941.2	-	10	1245	c.306G>A	c.(304-306)gtG>gtA	p.V102V	SCAPER_ENST00000563290.1_Silent_p.V348V|SCAPER_ENST00000324767.7_Silent_p.V348V	NM_001145923.1	NP_001139395.1	Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	347						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						CCAATGTACTCACTGTGAACT	0.338													T	77064287	C	T	77064287	2	4	586	1	0	0	0	0	0	0	0	1	13970	813	29	2		2	SCAPER	15	77064287	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	33489529	77064287	25467105	32	49110											
CREBBP	1387	broad.mit.edu	37	chr16	3781375	3781375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggtgaggaaggcgtcgcGcccatccatgaggtcacagc	9	5	16	11	3	1	2	1	2	0	0	3	4	2	3	2	4	1	0	2	4	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:3781375G>A	ENST00000262367.5	-	30	5799	c.4990C>T	c.(4990-4992)Cgc>Tgc	p.R1664C	CREBBP_ENST00000382070.3_Missense_Mutation_p.R1626C	NM_004380.2	NP_004371.2	Q92793	CBP_HUMAN	CREB binding protein	1664	Interaction with TRERF1.		R -> H (in RSTS1; abolishes acetyltransferase activity).		cellular lipid metabolic process|homeostatic process|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|protein complex assembly|response to hypoxia	cytoplasm|nuclear body	histone acetyltransferase activity|MyoD binding|p53 binding|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity|zinc ion binding	p.R1664C(1)		NS(1)|breast(5)|central_nervous_system(4)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(125)|kidney(5)|large_intestine(32)|lung(43)|ovary(18)|pancreas(2)|prostate(6)|skin(9)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(21)	295		Ovarian(90;0.0266)		OV - Ovarian serous cystadenocarcinoma(1;3.54e-05)		AAGGCGTCGCGCCCATCCATG	0.642			"T, N, F, Mis, O"	"MLL, MORF, RUNXBP2"	"ALL, AML, DLBCL, B-NHL "		Rubinstein-Taybi syndrome						A	3781375	G	A	3781375	3	1	586	1	0	0	0	0	1	0	0	0	3892	1087	38	1	2346	1	CREBBP	16	3781375	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		3781375	86573378	33	49111											
CACNG3	10368	broad.mit.edu	37	chr16	24373167	24373167	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataataatccggccaacaggCgcaccacgcccgtctgaact	12	6	8	15	4	1	1	0	1	1	0	2	1	2	1	4	2	2	1	4	2	4	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:24373167C>T	ENST00000005284.3	+	4	2133	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	311					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	p.R311C(1)		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)		GGCCAACAGGCGCACCACGCC	0.562													T	24373167	C	T	24373167	3	4	586	1	0	0	0	0	1	0	0	0	2584	768	27	1	945	1	CACNG3	16	24373167	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	20591792	24373167	65981586	34	49112											
ADCY7	113	broad.mit.edu	37	chr16	50325794	50325794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacgacacccagtgtcCgggtggggctgcaggtgagg	6	7	17	11	2	1	1	1	1	0	0	2	2	2	1	2	5	1	3	2	5	0	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:50325794C>T	ENST00000394697.2	+	4	863	c.523C>T	c.(523-525)Cgg>Tgg	p.R175W	ADCY7_ENST00000538642.1_Missense_Mutation_p.R175W|ADCY7_ENST00000564044.1_Intron|ADCY7_ENST00000254235.3_Missense_Mutation_p.R175W|ADCY7_ENST00000537579.1_Missense_Mutation_p.R175W|ADCY7_ENST00000566433.2_Missense_Mutation_p.R175W			P51828	ADCY7_HUMAN	adenylate cyclase 7	175					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to ethanol|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of cAMP biosynthetic process|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	35		all_cancers(37;0.0127)		GBM - Glioblastoma multiforme(240;0.195)	Bromocriptine(DB01200)	ACCCAGTGTCCGGGTGGGGCT	0.652													T	50325794	C	T	50325794	3	4	586	1	0	0	0	0	1	0	0	0	299	643	23	1	533	1	ADCY7	16	50325794	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	25952627	50325794	40028959	35	49113											
CBFA2T3	863	broad.mit.edu	37	chr16	88967963	88967963	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggccccctgggatgcggcagGcggtgggggcggcatgctgg	3	5	22	11	3	0	0	0	0	0	0	0	1	0	1	2	9	2	3	2	9	0	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr16:88967963G>A	ENST00000268679.4	-	2	649	c.253C>T	c.(253-255)Cct>Tct	p.P85S	CBFA2T3_ENST00000436887.2_Missense_Mutation_p.P85S|CBFA2T3_ENST00000448839.1_Intron|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.P24S|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.P24S	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	85	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|Pro-rich.|Required for nucleolar targeting (in isoform 1).				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GATGCGGCAGGCGGTGGGGGC	0.701			T	RUNX1	AML								A	88967963	G	A	88967963	3	1	586	1	0	0	0	0	1	0	0	0	2724	1203	42	2	1752	2	CBFA2T3	16	88967963	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08	38642169	88967963	1386790	36	49114											
NLRP1	22861	broad.mit.edu	37	chr17	5462410	5462410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgtgagtttttccttccGcttcatctgctgcatcaggc	5	15	9	12	1	3	1	2	1	1	0	5	1	5	1	2	1	2	4	2	1	0	4			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:5462410G>A	ENST00000345221.3	-	4	2160	c.1606C>T	c.(1606-1608)Cgg>Tgg	p.R536W	NLRP1_ENST00000262467.5_Missense_Mutation_p.R536W|NLRP1_ENST00000572272.1_Missense_Mutation_p.R536W|NLRP1_ENST00000269280.4_Missense_Mutation_p.R536W|NLRP1_ENST00000577119.1_Missense_Mutation_p.R536W|NLRP1_ENST00000354411.3_Missense_Mutation_p.R536W|NLRP1_ENST00000571307.1_5'UTR	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	536	NACHT.				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				TTTTCCTTCCGCTTCATCTGC	0.547													A	5462410	G	A	5462410	3	1	586	1	0	0	0	0	1	0	0	0	10547	1086	38	1	2946	1	NLRP1	17	5462410	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		5462410	75732800	37	49115											
PIK3R5	23533	broad.mit.edu	37	chr17	8794082	8794082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtgcaggcccgggacGtcacagtgggccccaaaggt	8	5	15	13	2	1	0	1	0	0	0	1	1	1	1	3	4	2	2	3	4	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:8794082G>A	ENST00000447110.1	-	7	754	c.630C>T	c.(628-630)gaC>gaT	p.D210D	PIK3R5_ENST00000581552.1_Silent_p.D210D|PIK3R5_ENST00000584803.1_Silent_p.D210D	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	210					platelet activation	cytosol|membrane|nucleus				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						GGCCCGGGACGTCACAGTGGG	0.632													A	8794082	G	A	8794082	2	1	586	1	0	0	0	0	0	0	0	1	11999	1136	40	1		1	PIK3R5	17	8794082	Silent	SNP	G	TCGA-HT-8110-01A-11D-2395-08	3331672	8794082	72401128	38	49116											
GSDMB	55876	broad.mit.edu	37	chr17	38073447	38073447	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaaagaaagttctcttctcCcccaccagatggaagcagcg	12	7	8	14	1	2	2	0	0	2	2	4	3	2	3	4	1	2	2	4	1	3	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr17:38073447C>T	ENST00000394175.2	-	1	346	c.123G>A	c.(121-123)ggG>ggA	p.G41G	GSDMB_ENST00000394179.1_Silent_p.G41G|GSDMB_ENST00000520542.1_Silent_p.G41G|GSDMB_ENST00000360317.3_Silent_p.G41G|GSDMB_ENST00000309481.7_Silent_p.G41G|GSDMB_ENST00000418519.1_Silent_p.G41G	NM_018530.2	NP_061000.2	Q8TAX9	GSDMB_HUMAN	gasdermin B	41						cytoplasm				breast(2)|endometrium(3)|large_intestine(6)|lung(6)|pancreas(1)|prostate(1)|stomach(2)	21						TTCTCTTCTCCCCCACCAGAT	0.483													T	38073447	C	T	38073447	2	4	586	1	0	0	0	0	0	0	0	1	6872	610	22	2		2	GSDMB	17	38073447	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	29279365	38073447	43121763	39	49117											
SHD	56961	broad.mit.edu	37	chr19	4284902	4284902	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccctggagaaacagccGtgagtggggaagctgaaggt	10	6	16	9	1	0	3	0	2	0	1	0	5	0	4	3	4	4	1	3	4	3	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr19:4284902G>A	ENST00000543264.2	+	4	2179		c.e4+1		SHD_ENST00000599689.1_Splice_Site|SHD_ENST00000600475.1_Splice_Site	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D											breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		AGAAACAGCCGTGAGTGGGGA	0.587													A	4284902	G	A	4284902	5	1	586	1	0	0	0	0	0	0	1	0	14369	1159	40	1	731	1	SHD	19	4284902	Splice_Site	SNP	G	TCGA-HT-8110-01A-11D-2395-08		4284902	54844081	40	49118											
SPATA2	9825	broad.mit.edu	37	chr20	48522793	48522793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcgggtggaagcacatccGggctgccgtggggggagctg	6	5	21	9	3	0	0	0	0	0	0	1	2	1	2	2	7	3	3	2	7	1	0			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:48522793G>A	ENST00000422556.1	-	3	1275	c.926C>T	c.(925-927)cCg>cTg	p.P309L	SPATA2_ENST00000289431.5_Missense_Mutation_p.P309L|SPATA2_ENST00000543716.1_Missense_Mutation_p.P172L	NM_001135773.1	NP_001129245.1	Q9UM82	SPAT2_HUMAN	spermatogenesis associated 2	309					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm|nucleus				central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(1)	20	Hepatocellular(150;0.133)		BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			AAGCACATCCGGGCTGCCGTG	0.637													A	48522793	G	A	48522793	3	1	586	1	0	0	0	0	1	0	0	0	15101	1116	39	1	640	1	SPATA2	20	48522793	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		48522793	14502727	41	49119											
CBLN4	140689	broad.mit.edu	37	chr20	54579018	54579018	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcaccgccgagaaggcgacCttggagttggccgcccggac	7	4	15	15	6	0	1	0	0	0	1	0	5	0	3	5	4	0	2	5	4	1	2			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:54579018C>T	ENST00000064571.2	-	1	1510	c.210G>A	c.(208-210)aaG>aaA	p.K70K		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	70	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGAAGGCGACCTTGGAGTTGG	0.637													T	54579018	C	T	54579018	2	4	586	1	0	0	0	0	0	0	0	1	2733	680	24	2		2	CBLN4	20	54579018	Silent	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6056225	54579018	8446502	42	49120											
LAMA5	3911	broad.mit.edu	37	chr20	60895628	60895628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcctggccgcctagcCgccgtgcgtcctgcccgagg	2	7	13	19	5	0	0	0	0	0	0	2	1	2	0	8	2	4	0	8	2	1	1			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr20:60895628C>T	ENST00000252999.3	-	50	6812	c.6746G>A	c.(6745-6747)cGg>cAg	p.R2249Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2249	Domain II and I.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GCCGCCTAGCCGCCGTGCGTC	0.687													T	60895628	C	T	60895628	3	4	586	1	0	0	0	0	1	0	0	0	8668	652	23	1	4465	1	LAMA5	20	60895628	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08	6316610	60895628	2129892	43	49121											
TRPM2	7226	broad.mit.edu	37	chr21	45817649	45817649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagccaggactgcatcgcagCggccttggcctgcagcaaga	9	5	14	13	2	0	1	0	0	0	1	1	3	0	2	3	3	5	4	3	3	1	1	rs149619816	byFrequency	TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr21:45817649C>T	ENST00000397928.1	+	13	2397	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	TRPM2_ENST00000300481.9_Missense_Mutation_p.A631V|TRPM2_ENST00000397932.2_Missense_Mutation_p.A651V|TRPM2_ENST00000300482.5_Missense_Mutation_p.A651V|TRPM2_ENST00000498430.1_3'UTR	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	651						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGCATCGCAGCGGCCTTGGCC	0.622													T	45817649	C	T	45817649	3	4	586	1	0	0	0	0	1	0	0	0	16687	768	27	1	2002	1	TRPM2	21	45817649	Missense_Mutation	SNP	C	TCGA-HT-8110-01A-11D-2395-08		45817649	2312246	44	49122											
P2RX6	9127	broad.mit.edu	37	chr22	21380124	21380124	+	Frame_Shift_Del	DEL	T	T	-																															cactggtgggagcaaccgggTgtggaggcccgcaccctgct																										TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chr22:21380124delT	ENST00000413302.2	+	9	1069	c.921delT	c.(919-921)ggtfs	p.G307fs	P2RX6_ENST00000402329.3_3'UTR|P2RX6_ENST00000443995.3_Frame_Shift_Del_p.G254fs|P2RX6_ENST00000336296.2_Frame_Shift_Del_p.G297fs|P2RX6_ENST00000401443.1_Frame_Shift_Del_p.G281fs			O15547	P2RX6_HUMAN	purinergic receptor P2X, ligand-gated ion channel, 6	307					muscle contraction|protein homooligomerization	cell junction|cytoplasm|integral to plasma membrane	ATP binding|extracellular ATP-gated cation channel activity|identical protein binding|purinergic nucleotide receptor activity										AGCAACCGGGTGTGGAGGCCC	0.657													-	21380124	T	-	21380124	7	5	586	1	0	1	0	1	0	0	0	0	11420	1683	59	0	955	0	P2RX6	22	21380124	Frame_Shift_Del	DEL	T	TCGA-HT-8110-01A-11D-2395-08		21380124	29924442	45	49123											
PCDH11X	27328	broad.mit.edu	37	chrX	91133712	91133712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggcaccataactgtcGttgtagttattttcatcact	8	17	7	9	1	2	0	2	0	0	0	3	0	2	0	1	1	2	5	1	1	3	7			TCGA-HT-8110-01A-11D-2395-08	TCGA-HT-8110-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6dbc06d4-1ab9-42f1-afd6-dd23af867c55	b325a96a-ae13-4143-a715-7e57b29f83ad	g.chrX:91133712G>A	ENST00000373094.1	+	2	3318	c.2473G>A	c.(2473-2475)Gtt>Att	p.V825I	PCDH11X_ENST00000395337.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373097.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000298274.8_Missense_Mutation_p.V825I|PCDH11X_ENST00000504220.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000406881.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361655.2_Missense_Mutation_p.V825I|PCDH11X_ENST00000373088.1_Missense_Mutation_p.V825I|PCDH11X_ENST00000361724.1_Missense_Mutation_p.V825I	NM_032968.3	NP_116750.1	Q9BZA7	PC11X_HUMAN	protocadherin 11 X-linked	825					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(30)|liver(4)|lung(92)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	159						CATAACTGTCGTTGTAGTTAT	0.463													A	91133712	G	A	91133712	3	1	586	1	0	0	0	0	1	0	0	0	11584	1145	40	1	2479	1	PCDH11X	23	91133712	Missense_Mutation	SNP	G	TCGA-HT-8110-01A-11D-2395-08		91133712	64136848	46	49124											
IL22RA1	58985	broad.mit.edu	37	chr1	24460805	24460805	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgcacggattggcgtggGggtaggatgaacaatcatct	9	9	15	8	2	2	1	1	1	1	0	2	3	2	3	1	5	2	2	1	5	3	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:24460805G>C	ENST00000270800.1	-	4	465	c.427C>G	c.(427-429)Ccc>Gcc	p.P143A		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	143	Fibronectin type-III 2.					integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		ATTGGCGTGGGGGTAGGATGA	0.522													C	24460805	G	C	24460805	3	2	587	1	0	0	0	0	1	0	0	0	7731	1232	43	4	1313	4	IL22RA1	1	24460805	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		24460805	224789816	1	49125											
SPAG17	200162	broad.mit.edu	37	chr1	118554864	118554874	+	Frame_Shift_Del	DEL	ATCTGGCAGAA	ATCTGGCAGAA	-																															aacatacttgtttcttgatcAtctggcagaataatttgatc																										TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:118554864_118554874delATCTGGCAGAA	ENST00000336338.5	-	30	4474_4484	c.4409_4419delTTCTGCCAGAT	c.(4408-4419)attctgccagatfs	p.ILPD1470fs		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1470						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTCTTGATCATCTGGCAGAATAATTTGATC	0.336													-	118554874	ATCTGGCAGAA	-	118554864	7	5	587	1	0	1	0	1	0	0	0	0	15075	214	8	0	2328	0	SPAG17	1	118554864	Frame_Shift_Del	DEL	ATCTGGCAGAA	TCGA-HT-8111-01A-11D-2395-08	94094059	118554864	130695757	2	49126											
ZNF281	23528	broad.mit.edu	37	chr1	200378559	200378559	+	Frame_Shift_Del	DEL	G	G	-																															tcatgtccggggctggcggaGgggggggctcagcggccggg																										TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr1:200378559delG	ENST00000294740.3	-	2	399	c.275delC	c.(274-276)cctfs	p.P94fs	ZNF281_ENST00000367353.1_Frame_Shift_Del_p.P94fs|ZNF281_ENST00000367352.3_Frame_Shift_Del_p.P58fs	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281		Poly-Pro.				negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	p.P93fs*34(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						GGCTGGCGGAGGGGGGGGCTC	0.706													-	200378559	G	-	200378559	7	5	587	1	0	1	0	1	0	0	0	0	17919	1000	35	0	2416	0	ZNF281	1	200378559	Frame_Shift_Del	DEL	G	TCGA-HT-8111-01A-11D-2395-08	81823695	200378559	48872062	3	49127											
NEB	4703	broad.mit.edu	37	chr2	152534214	152534214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcctttttaactttttcGacgtcgagactgccaatagg	8	13	9	11	4	0	1	0	0	0	1	2	3	0	1	3	2	2	0	3	2	3	6	rs74320183	by1000genomes	TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:152534214G>A	ENST00000397345.3	-	34	3841	c.3639C>T	c.(3637-3639)gtC>gtT	p.V1213V	NEB_ENST00000172853.10_Silent_p.V1213V|NEB_ENST00000604864.1_Silent_p.V1213V|NEB_ENST00000409198.1_Silent_p.V1213V|NEB_ENST00000427231.2_Silent_p.V1213V|NEB_ENST00000603639.1_Silent_p.V1213V	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	1213					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAACTTTTTCGACGTCGAGAC	0.458													A	152534214	G	A	152534214	2	1	587	1	0	0	0	0	0	0	0	1	10378	1045	37	1		1	NEB	2	152534214	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08		152534214	90665159	4	49128											
SCN3A	6328	broad.mit.edu	37	chr2	166012411	166012411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgtatccttctggacacTggctataagagagagaaatg	14	10	11	6	0	1	3	0	0	1	3	2	6	2	4	1	2	0	2	1	2	4	4			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:166012411T>C	ENST00000360093.3	-	10	1525	c.1034A>G	c.(1033-1035)cAg>cGg	p.Q345R	SCN3A_ENST00000409101.3_Missense_Mutation_p.Q345R|SCN3A_ENST00000283254.7_Missense_Mutation_p.Q345R	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	345						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTCTGGACACTGGCTATAAGA	0.408													C	166012411	T	C	166012411	3	2	587	1	0	0	0	0	1	0	0	0	14011	1580	55	3	5044	3	SCN3A	2	166012411	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08	13478197	166012411	77186962	5	49129											
SSFA2	6744	broad.mit.edu	37	chr2	182780777	182780777	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcgaccattttcatctctCcatcatctgtgaagaaagaa	14	12	5	10	1	4	3	2	1	2	2	7	4	5	3	2	0	0	0	2	0	4	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr2:182780777C>G	ENST00000431877.2	+	11	2589	c.2410C>G	c.(2410-2412)Cca>Gca	p.P804A	SSFA2_ENST00000409136.1_Missense_Mutation_p.P313A|SSFA2_ENST00000320370.7_Missense_Mutation_p.P804A|SSFA2_ENST00000428267.2_Missense_Mutation_p.P651A|SSFA2_ENST00000409001.1_Missense_Mutation_p.P804A	NM_001130445.1	NP_001123917.1	P28290	SSFA2_HUMAN	sperm specific antigen 2	804						cytoplasm|plasma membrane	actin binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(18)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	38			OV - Ovarian serous cystadenocarcinoma(117;0.0856)			TTTCATCTCTCCATCATCTGT	0.502													G	182780777	C	G	182780777	3	3	587	1	0	0	0	0	1	0	0	0	15279	855	30	4	2452	4	SSFA2	2	182780777	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	16768366	182780777	60418596	6	49130											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	587	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08	26332335	209113112	34086261	7	49131											
KIAA1109	84162	broad.mit.edu	37	chr4	123107220	123107220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaaccaggttatacatcAcagtcaatgactttgaattt	15	12	6	8	0	2	3	2	2	0	1	2	3	2	3	1	1	2	1	1	1	5	4			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123107220A>G	ENST00000264501.4	+	7	761	c.388A>G	c.(388-390)Aca>Gca	p.T130A	KIAA1109_ENST00000388738.3_Missense_Mutation_p.T130A|KIAA1109_ENST00000455637.1_Missense_Mutation_p.T130A			Q2LD37	K1109_HUMAN	KIAA1109	130					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTATACATCACAGTCAATGA	0.333													G	123107220	A	G	123107220	3	3	587	1	0	0	0	0	1	0	0	0	8266	159	6	3	406	3	KIAA1109	4	123107220	Missense_Mutation	SNP	A	TCGA-HT-8111-01A-11D-2395-08		123107220	68047056	8	49132											
ADAD1	132612	broad.mit.edu	37	chr4	123336539	123336539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtttttgctttctaggtgatGggaattgcagtgataccaga	9	15	12	5	0	1	3	0	2	1	1	1	4	1	4	1	2	3	3	1	2	3	6			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:123336539G>A	ENST00000296513.2	+	11	1440	c.1255G>A	c.(1255-1257)Ggg>Agg	p.G419R	ADAD1_ENST00000388725.2_Missense_Mutation_p.G401R|ADAD1_ENST00000388724.2_Missense_Mutation_p.G408R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	419	A to I editase.				multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						TCTAGGTGATGGGAATTGCAG	0.348													A	123336539	G	A	123336539	3	1	587	1	0	0	0	0	1	0	0	0	231	1348	47	2	1289	2	ADAD1	4	123336539	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	229319	123336539	67817737	9	49133											
ETFDH	2110	broad.mit.edu	37	chr4	159603573	159603573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcccagactggaaagagaaGggggtatgaaaaattgtttt	14	11	12	4	0	0	3	0	1	0	2	1	5	1	4	1	3	0	2	1	3	5	5			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr4:159603573G>A	ENST00000511912.1	+	3	734	c.402G>A	c.(400-402)aaG>aaA	p.K134K	ETFDH_ENST00000307738.5_Silent_p.K87K	NM_001281738.1|NM_004453.2	NP_001268667.1|NP_004444.2	Q16134	ETFD_HUMAN	electron-transferring-flavoprotein dehydrogenase	134					fatty acid beta-oxidation using acyl-CoA dehydrogenase|respiratory electron transport chain|response to oxidative stress|transport	integral to mitochondrial inner membrane|mitochondrial matrix	4 iron, 4 sulfur cluster binding|electron carrier activity|electron-transferring-flavoprotein dehydrogenase activity|flavin adenine dinucleotide binding|metal ion binding|oxidoreductase activity, oxidizing metal ions with flavin as acceptor|ubiquinone binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|prostate(1)|skin(3)	28	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0172)		GGAAAGAGAAGGGGGTATGAA	0.388													A	159603573	G	A	159603573	2	1	587	1	0	0	0	0	0	0	0	1	5312	991	35	2		2	ETFDH	4	159603573	Silent	SNP	G	TCGA-HT-8111-01A-11D-2395-08	36267034	159603573	31550703	10	49134											
HTR1E	3354	broad.mit.edu	37	chr6	87725488	87725488	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgatgatccttaccGtctggaccatctccattttc	6	13	7	15	3	2	2	0	2	2	0	5	3	3	3	5	1	1	1	5	1	1	3			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:87725488G>A	ENST00000305344.5	+	2	1139	c.436G>A	c.(436-438)Gtc>Atc	p.V146I		NM_000865.2	NP_000856.1	P28566	5HT1E_HUMAN	5-hydroxytryptamine (serotonin) receptor 1E, G protein-coupled						G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	protein binding|serotonin binding|serotonin receptor activity	p.V146I(2)		breast(3)|endometrium(2)|kidney(3)|large_intestine(11)|lung(15)|ovary(2)|prostate(2)|skin(3)	41		all_cancers(76;7.11e-06)|Acute lymphoblastic leukemia(125;1.2e-09)|Prostate(29;3.51e-09)|all_hematologic(105;7.43e-06)|all_epithelial(107;0.00819)		BRCA - Breast invasive adenocarcinoma(108;0.055)	Eletriptan(DB00216)	GATCCTTACCGTCTGGACCAT	0.582													A	87725488	G	A	87725488	3	1	587	1	0	0	0	0	1	0	0	0	7497	1145	40	1	438	1	HTR1E	6	87725488	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		87725488	83389579	11	49135											
MOXD1	26002	broad.mit.edu	37	chr6	132722520	132722520	+	Frame_Shift_Del	DEL	T	T	-																															gcccgagccccccgccgccgTcccggggagcagcccccaca																										TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr6:132722520delT	ENST00000367963.3	-	1	164	c.46delA	c.(46-48)acgfs	p.T16fs	MOXD1_ENST00000392401.3_Frame_Shift_Del_p.T16fs	NM_015529.2	NP_056344.2	Q6UVY6	MOXD1_HUMAN	monooxygenase, DBH-like 1	16					catecholamine metabolic process	endoplasmic reticulum membrane|integral to membrane	copper ion binding|dopamine beta-monooxygenase activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(3)|skin(1)	37	Breast(56;0.0495)			OV - Ovarian serous cystadenocarcinoma(155;0.0132)|GBM - Glioblastoma multiforme(226;0.0191)		CCCGCCGCCGTCCCGGGGAGC	0.746													-	132722520	T	-	132722520	7	5	587	1	0	1	0	1	0	0	0	0	9796	1667	58	0	1843	0	MOXD1	6	132722520	Frame_Shift_Del	DEL	T	TCGA-HT-8111-01A-11D-2395-08	44997032	132722520	38392547	12	49136											
TRPA1	8989	broad.mit.edu	37	chr8	72969169	72969169	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgcataaattcaggtcGcagattttttaatccataag	13	14	6	8	1	1	1	1	0	0	1	3	1	2	1	2	1	2	2	2	1	5	7			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr8:72969169G>A	ENST00000262209.4	-	10	1384	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	393						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	AATTCAGGTCGCAGATTTTTT	0.294													A	72969169	G	A	72969169	4	1	587	1	0	0	0	0	0	1	0	0	16678	1095	38	1	2254	1	TRPA1	8	72969169	Nonsense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08		72969169	73394853	13	49137											
WNK2	65268	broad.mit.edu	37	chr9	96051424	96051424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactccagctccagaggctgCctcaaccagggacgccagtg	9	5	11	16	1	1	1	1	0	0	1	3	2	3	2	5	2	3	2	5	2	1	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr9:96051424C>A	ENST00000297954.4	+	20	4499	c.4499C>A	c.(4498-4500)gCc>gAc	p.A1500D	WNK2_ENST00000349097.3_Missense_Mutation_p.A1112D|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000427277.2_Missense_Mutation_p.A1075D|WNK2_ENST00000395477.2_Missense_Mutation_p.A1463D|WNK2_ENST00000395475.2_3'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1500					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						CCAGAGGCTGCCTCAACCAGG	0.687													A	96051424	C	A	96051424	3	1	587	1	0	0	0	0	1	0	0	0	17480	739	26	4	4462	4	WNK2	9	96051424	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		96051424	45162007	14	49138											
MTPAP	55149	broad.mit.edu	37	chr10	30653858	30653858	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacgctcacacccaccccAcccccacccccacagaggtg	9	2	5	25	1	1	1	1	0	0	1	1	1	1	1	8	1	0	1	8	1	0	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:30653858A>C	ENST00000358107.4	-	2	323	c.324T>G	c.(322-324)ggT>ggG	p.G108G	MTPAP_ENST00000488290.1_5'UTR			Q9NVV4	PAPD1_HUMAN	mitochondrial poly(A) polymerase	0					cell death|histone mRNA catabolic process|mRNA polyadenylation|transcription, DNA-dependent	mitochondrion	ATP binding|magnesium ion binding|manganese ion binding|polynucleotide adenylyltransferase activity|protein homodimerization activity|RNA binding|UTP binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						cacccaccccacccccacccc	0.642													C	30653858	A	C	30653858	2	2	587	1	0	0	0	0	0	0	0	1	10032	174	6	5		5	MTPAP	10	30653858	Silent	SNP	A	TCGA-HT-8111-01A-11D-2395-08		30653858	104880889	15	49139											
CALHM2	51063	broad.mit.edu	37	chr10	105209278	105209278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcttccctggccgtgaGtgaggaagggtccacgaact	7	9	14	11	2	1	2	0	2	1	0	3	4	3	3	3	3	2	1	3	3	2	1			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr10:105209278G>A	ENST00000393235.1	-	3	1618	c.421C>T	c.(421-423)Ctc>Ttc	p.L141F	CALHM2_ENST00000369788.3_Missense_Mutation_p.L141F|CALHM2_ENST00000260743.5_Missense_Mutation_p.L141F			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	141						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CTGGCCGTGAGTGAGGAAGGG	0.607													A	105209278	G	A	105209278	3	1	587	1	0	0	0	0	1	0	0	0	2609	1029	36	2	558	2	CALHM2	10	105209278	Missense_Mutation	SNP	G	TCGA-HT-8111-01A-11D-2395-08	74555420	105209278	30325469	16	49140											
ART1	417	broad.mit.edu	37	chr11	3681544	3681544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagggccccgcccgcatctaCctccgagccctgggcaagca	7	4	11	19	3	1	0	0	0	1	0	2	1	2	0	6	2	3	3	6	2	2	1			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:3681544C>T	ENST00000250693.1	+	3	896	c.795C>T	c.(793-795)taC>taT	p.Y265Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	265					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	CCCGCATCTACCTCCGAGCCC	0.607													T	3681544	C	T	3681544	2	4	587	1	0	0	0	0	0	0	0	1	1002	518	18	2		2	ART1	11	3681544	Silent	SNP	C	TCGA-HT-8111-01A-11D-2395-08		3681544	131324972	17	49141											
SPON1	10418	broad.mit.edu	37	chr11	14284600	14284601	+	RNA	DEL	AA	AA	-																															gctaagtcttggacctgtttAaaaaaaaaaaaaaaaaaaaa																								rs79477301		TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr11:14284600_14284601delAA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaaa	0.465													-	14284601	AA	-	14284600	6	5	587	0	1	1	0	1	0	0	0	0	15178	377	13	0		0	SPON1	11	14284600	RNA	DEL	AA	TCGA-HT-8111-01A-11D-2395-08	10603056	14284600	120721916	18	49142											
KLHL28	54813	broad.mit.edu	37	chr14	45400708	45400708	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgccatggatgcaaccatCtcccaggagtccttacttgg	8	11	9	13	0	2	0	0	0	2	0	4	2	3	2	4	3	4	1	4	3	2	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr14:45400708C>A	ENST00000396128.4	-	4	1499	c.1380G>T	c.(1378-1380)gaG>gaT	p.E460D	KLHL28_ENST00000355081.2_Missense_Mutation_p.E474D	NM_017658.3	NP_060128.2	Q9NXS3	KLH28_HUMAN	kelch-like family member 28	460										breast(2)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						ATGCAACCATCTCCCAGGAGT	0.393													A	45400708	C	A	45400708	3	1	587	1	0	0	0	0	1	0	0	0	8440	912	32	4	343	4	KLHL28	14	45400708	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		45400708	61948832	19	49143											
TP53	7157	broad.mit.edu	37	chr17	7578449	7578449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgactgcttgtagatggCcatggcgcggacgcgggtgc	5	9	17	10	4	0	2	0	1	0	1	0	3	0	3	1	4	2	2	1	4	1	2			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr17:7578449C>T	ENST00000420246.2	-	5	613	c.481G>A	c.(481-483)Gcc>Acc	p.A161T	TP53_ENST00000269305.4_Missense_Mutation_p.A161T|TP53_ENST00000413465.2_Missense_Mutation_p.A161T|TP53_ENST00000359597.4_Missense_Mutation_p.A161T|TP53_ENST00000445888.2_Missense_Mutation_p.A161T|TP53_ENST00000455263.2_Missense_Mutation_p.A161T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	161	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		A -> D (in sporadic cancers; somatic mutation).|A -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|A -> G (in sporadic cancers; somatic mutation).|A -> P (in sporadic cancers; somatic mutation).|A -> S (in sporadic cancers; somatic mutation).|A -> T (in sporadic cancers; somatic mutation).|A -> V (in sporadic cancers; somatic mutation).|MA -> IP (in a sporadic cancer; somatic mutation).|MA -> IS (in sporadic cancers; somatic mutation).|MA -> IT (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.A161T(54)|p.0?(8)|p.A68T(3)|p.A29T(3)|p.A161fs*9(3)|p.R156_I162delRVRAMAI(2)|p.M160fs*10(2)|p.V157_C176del20(1)|p.A161fs*19(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156fs*18(1)|p.A161fs*10(1)|p.R156_A161del(1)|p.V157fs*9(1)|p.A161fs*20(1)|p.M160_A161>IS(1)|p.A161fs*8(1)|p.S149fs*72(1)|p.A161fs*7(1)|p.T155_A161delTRVRAMA(1)|p.R156fs*20(1)|p.A161S(1)|p.A161P(1)|p.V157_I162delVRAMAI(1)|p.A161F(1)|p.A159_Q167delAMAIYKQSQ(1)|p.R158fs*8(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)		TTGTAGATGGCCATGGCGCGG	0.632		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)			T	7578449	C	T	7578449	3	4	587	1	0	0	0	0	1	0	0	0	16482	739	26	2	817	2	TP53	17	7578449	Missense_Mutation	SNP	C	TCGA-HT-8111-01A-11D-2395-08		7578449	73616761	20	49144											
TRIOBP	11078	broad.mit.edu	37	chr22	38120965	38120965	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgcccagcgggacaatcTcagagcctcctctcccatca	8	8	8	17	1	3	1	2	0	2	1	6	2	4	2	4	1	3	0	4	1	1	0			TCGA-HT-8111-01A-11D-2395-08	TCGA-HT-8111-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1dba9345-2d78-4d00-9509-c30b2e197e07	dbc20e74-6c64-49a3-ad8a-461ce0c26b71	g.chr22:38120965T>C	ENST00000406386.3	+	7	2657	c.2402T>C	c.(2401-2403)cTc>cCc	p.L801P		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	801					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CGGGACAATCTCAGAGCCTCC	0.537													C	38120965	T	C	38120965	3	2	587	1	0	0	0	0	1	0	0	0	16654	1551	54	3	2420	3	TRIOBP	22	38120965	Missense_Mutation	SNP	T	TCGA-HT-8111-01A-11D-2395-08		38120965	13183601	21	49145											
AURKAIP1	54998	broad.mit.edu	37	chr1	1309600	1309600	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attgcggtggagccacagtcCctgcggtcccggtatccagt	6	9	13	13	3	0	0	0	0	0	0	3	1	3	1	4	4	3	1	4	4	1	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr1:1309600C>T	ENST00000338370.3	-	2	678	c.278G>A	c.(277-279)gGg>gAg	p.G93E	AURKAIP1_ENST00000378853.3_Missense_Mutation_p.G93E|AURKAIP1_ENST00000321751.5_Missense_Mutation_p.G93E|AURKAIP1_ENST00000338338.5_Missense_Mutation_p.G93E			Q9NWT8	AKIP_HUMAN	aurora kinase A interacting protein 1	93					negative regulation of mitosis|positive regulation of proteolysis	mitochondrion|nucleus	protein binding			kidney(1)|lung(2)	3	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.82e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		AGCCACAGTCCCTGCGGTCCC	0.657													T	1309600	C	T	1309600	3	4	588	1	0	0	0	0	1	0	0	0	1227	623	22	2	329	2	AURKAIP1	1	1309600	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		1309600	247941021	1	49146											
NRXN1	9378	broad.mit.edu	37	chr2	50723230	50723230	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaatcaaacacgtaatgtaaGtacctgggaaaaaaatgaaa	22	7	7	5	1	1	1	1	1	0	0	1	2	1	2	1	1	2	3	1	1	9	3			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:50723230G>C	ENST00000404971.1	-	16	4342	c.3003C>G	c.(3001-3003)taC>taG	p.Y1001*	NRXN1_ENST00000401669.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000406859.3_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000406316.2_Nonsense_Mutation_p.Y961*|NRXN1_ENST00000402717.3_Nonsense_Mutation_p.Y953*|NRXN1_ENST00000331040.5_5'UTR|NRXN1_ENST00000405472.3_Nonsense_Mutation_p.Y953*	NM_001135659.1	NP_001129131.1	Q9ULB1	NRX1A_HUMAN	neurexin 1	961	Laminin G-like 5.				adult behavior|axon guidance|cell adhesion|grooming behavior|learning|neuromuscular process controlling balance|positive regulation of excitatory postsynaptic membrane potential|prepulse inhibition	cell surface|integral to plasma membrane	metal ion binding|protein binding|receptor activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CGTAATGTAAGTACCTGGGAA	0.353													C	50723230	G	C	50723230	4	2	588	1	0	0	0	0	0	1	0	0	10741	1024	36	4	1939	4	NRXN1	2	50723230	Nonsense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		50723230	192476143	2	49147											
MRPS5	64969	broad.mit.edu	37	chr2	95773974	95773974	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctccccatgagtttcCactccatcctcgctcccgtt	5	12	6	18	2	0	1	0	1	0	0	6	2	5	1	7	0	1	3	7	0	0	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:95773974C>T	ENST00000272418.2	-	5	791	c.583G>A	c.(583-585)Gga>Aga	p.G195R		NM_031902.3	NP_114108.1	P82675	RT05_HUMAN	mitochondrial ribosomal protein S5	195					translation	mitochondrion|ribosome	protein binding|RNA binding|structural constituent of ribosome			central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	20						CATGAGTTTCCACTCCATCCT	0.532													T	95773974	C	T	95773974	3	4	588	1	0	0	0	0	1	0	0	0	9922	603	21	2	741	2	MRPS5	2	95773974	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	45050744	95773974	147425399	3	49148											
SDPR	8436	broad.mit.edu	37	chr2	192700918	192700918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcgagggacgcttcggaatGaccctctgcaaaggactcct	9	7	13	12	3	1	1	0	1	1	0	3	5	2	4	2	4	1	2	2	4	2	1	rs115736105	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr2:192700918G>A	ENST00000304141.4	-	2	1338	c.1009C>T	c.(1009-1011)Cat>Tat	p.H337Y		NM_004657.5	NP_004648.1	O95810	SDPR_HUMAN	serum deprivation response	337						caveola|cytosol	phosphatidylserine binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(3)	23			OV - Ovarian serous cystadenocarcinoma(117;0.0647)		Phosphatidylserine(DB00144)	GCTTCGGAATGACCCTCTGCA	0.567													A	192700918	G	A	192700918	3	1	588	1	0	0	0	0	1	0	0	0	14063	1290	45	2	272	2	SDPR	2	192700918	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	96926944	192700918	50498455	4	49149											
ESYT3	83850	broad.mit.edu	37	chr3	138191379	138191379	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	accctgcttctgatactaagGacgtatccaggagtaccaca	12	9	8	12	1	1	1	0	1	1	0	2	3	2	3	3	2	3	3	3	2	4	5	rs72976634	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:138191379G>C	ENST00000389567.4	+	18	2101	c.1915G>C	c.(1915-1917)Gac>Cac	p.D639H		NM_031913.3	NP_114119.2	A0FGR9	ESYT3_HUMAN	extended synaptotagmin-like protein 3	639						integral to membrane|plasma membrane				breast(1)|endometrium(5)|large_intestine(7)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	25						TGATACTAAGGACGTATCCAG	0.557													C	138191379	G	C	138191379	3	2	588	1	0	0	0	0	1	0	0	0	5307	1174	41	4	1985	4	ESYT3	3	138191379	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		138191379	59831051	5	49150											
GYG1	2992	broad.mit.edu	37	chr3	148744693	148744693	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gattcctttgacaacatcaaGaggaaacttgacacttacct	14	11	6	10	0	1	3	1	2	0	1	2	5	2	4	2	1	3	0	2	1	4	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr3:148744693G>C	ENST00000345003.4	+	8	1326	c.1026G>C	c.(1024-1026)aaG>aaC	p.K342N	GYG1_ENST00000296048.6_Missense_Mutation_p.K325N|GYG1_ENST00000484197.1_Missense_Mutation_p.R252T|GYG1_ENST00000479119.1_3'UTR	NM_004130.3	NP_004121.2	P46976	GLYG_HUMAN	glycogenin 1	342					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	glycogenin glucosyltransferase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|lung(3)|ovary(1)	8			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			ACAACATCAAGAGGAAACTTG	0.458													C	148744693	G	C	148744693	3	2	588	1	0	0	0	0	1	0	0	0	6960	942	33	4	1056	4	GYG1	3	148744693	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	10553314	148744693	49277737	6	49151											
TLR6	10333	broad.mit.edu	37	chr4	38829218	38829218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggtatgttcctggccctgCgccgagtctgggtccactgg	4	10	15	12	2	1	0	0	0	1	0	3	1	3	0	4	4	1	2	4	4	1	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:38829218C>T	ENST00000436693.2	-	2	1996	c.1877G>A	c.(1876-1878)cGc>cAc	p.R626H	TLR6_ENST00000381950.1_Missense_Mutation_p.R626H	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	626					activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CCTGGCCCTGCGCCGAGTCTG	0.502													T	38829218	C	T	38829218	3	4	588	1	0	0	0	0	1	0	0	0	16055	768	27	1	517	1	TLR6	4	38829218	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		38829218	152325058	7	49152											
N4BP2	55728	broad.mit.edu	37	chr4	40104251	40104252	+	Frame_Shift_Ins	INS	-	-	A																															tcgcaggttgtagcagtctcINSaatcaaaaacagaaagaact																										TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr4:40104251_40104252insA	ENST00000261435.6	+	4	1202_1203	c.786_787insA	c.(787-789)aatfs	p.N263fs		NM_018177.4	NP_060647.2	Q86UW6	N4BP2_HUMAN	NEDD4 binding protein 2	263						cytoplasm	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|endonuclease activity|protein binding			breast(4)|endometrium(3)|kidney(12)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	60						GTAGCAGTCTCAATCAAAAACA	0.411													A	40104252	-	A	40104251	7	5	588	1	0	1	1	0	0	0	0	0	10186	813	29	0	792	0	N4BP2	4	40104251	Frame_Shift_Ins	INS	-	TCGA-HT-8113-01A-11D-2395-08	1275033	40104251	151050025	8	49153											
PCDHA10	56139	broad.mit.edu	37	chr5	140237337	140237337	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcgctgctggcgtctccCgctggcagcgcgggcggtgc	1	6	17	17	7	1	0	0	0	1	0	2	0	1	0	2	4	3	4	2	4	0	0	rs7725388	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr5:140237337C>G	ENST00000307360.5	+	1	1704	c.1704C>G	c.(1702-1704)ccC>ccG	p.P568P	PCDHA4_ENST00000530339.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGCGTCTCCCGCTGGCAGCG	0.692													G	140237337	C	G	140237337	2	3	588	1	0	0	0	0	0	0	0	1	11596	639	23	4		4	PCDHA10	5	140237337	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		140237337	40677923	9	49154											
MLLT4	4301	broad.mit.edu	37	chr6	168352193	168352193	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccactatgccggtgatttcGatggaatgtccatggatttg	8	14	11	8	2	0	1	0	1	0	0	3	4	2	3	3	3	1	0	3	3	2	3	rs78299900	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr6:168352193G>A	ENST00000366806.2	+	30	4280	c.4138G>A	c.(4138-4140)Gat>Aat	p.D1380N	MLLT4_ENST00000344191.4_Missense_Mutation_p.D1380N|MLLT4_ENST00000447894.2_Missense_Mutation_p.D1380N|MLLT4_ENST00000392108.3_Missense_Mutation_p.D1380N|MLLT4_ENST00000392112.1_Missense_Mutation_p.D1363N|MLLT4_ENST00000351017.4_Missense_Mutation_p.D1387N|MLLT4_ENST00000400822.3_Missense_Mutation_p.D1379N			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1380	Pro-rich.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		CGGTGATTTCGATGGAATGTC	0.627			T	MLL	AL								A	168352193	G	A	168352193	3	1	588	1	0	0	0	0	1	0	0	0	9704	1058	37	1	4252	1	MLLT4	6	168352193	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08		168352193	2762874	10	49155											
HERPUD2	64224	broad.mit.edu	37	chr7	35707097	35707097	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtcagtttgtgcttgTggaagggtacgctgcctcaa	6	13	14	8	1	2	0	2	0	0	0	2	1	2	1	1	3	3	5	1	3	3	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:35707097T>C	ENST00000396081.1	-	4	1245	c.441A>G	c.(439-441)ccA>ccG	p.P147P	HERPUD2_ENST00000311350.3_Silent_p.P147P|HERPUD2_ENST00000426180.1_5'UTR	NM_022373.4	NP_071768.3	Q9BSE4	HERP2_HUMAN	HERPUD family member 2	147					response to unfolded protein	integral to membrane				kidney(3)|large_intestine(5)|lung(6)|ovary(3)|prostate(1)	18						TTTGTGCTTGTGGAAGGGTAC	0.458													C	35707097	T	C	35707097	2	2	588	1	0	0	0	0	0	0	0	1	7119	1683	59	3		3	HERPUD2	7	35707097	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08		35707097	123431566	11	49156											
PTCD1	26024	broad.mit.edu	37	chr7	99032678	99032678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagagcccaggctgcccGtgttttcctgacgctcctgg	4	10	13	14	2	1	2	1	1	0	1	3	2	3	2	4	3	2	3	4	3	0	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr7:99032678G>A	ENST00000292478.4	-	2	438	c.188C>T	c.(187-189)aCg>aTg	p.T63M	PTCD1_ENST00000555673.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000413834.1_Missense_Mutation_p.T112M|ATP5J2-PTCD1_ENST00000437572.1_5'UTR	NM_015545.3	NP_056360.2			pentatricopeptide repeat domain 1											endometrium(5)|large_intestine(3)|lung(16)|ovary(2)|skin(1)	27	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGCTGCCCGTGTTTTCCTG	0.642													A	99032678	G	A	99032678	3	1	588	1	0	0	0	0	1	0	0	0	12812	1145	40	1	1942	1	PTCD1	7	99032678	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	63325581	99032678	60105985	12	49157											
QSOX2	169714	broad.mit.edu	37	chr9	139118662	139118662	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgtagtcatggcacacGgcctggttcttctcttccat	6	14	9	12	2	3	0	1	0	2	0	6	0	4	0	2	3	0	3	2	3	1	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr9:139118662G>A	ENST00000358701.5	-	2	424	c.387C>T	c.(385-387)gcC>gcT	p.A129A		NM_181701.3	NP_859052.3	Q6ZRP7	QSOX2_HUMAN	quiescin Q6 sulfhydryl oxidase 2	129	Thioredoxin.				cell redox homeostasis	extracellular region|integral to membrane|nuclear membrane|plasma membrane	thiol oxidase activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(178;0.0511)		Epithelial(140;7.78e-08)|OV - Ovarian serous cystadenocarcinoma(145;1.55e-07)		CATGGCACACGGCCTGGTTCT	0.562											OREG0019616	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	139118662	G	A	139118662	2	1	588	1	0	0	0	0	0	0	0	1	12972	1103	39	1		1	QSOX2	9	139118662	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		139118662	2094769	13	49158											
KIAA1462	57608	broad.mit.edu	37	chr10	30318651	30318651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acgtggacaggcaggctgtgGgcttgggccattcctctggc	5	9	16	11	1	1	0	0	0	1	0	2	1	2	1	2	6	0	3	2	6	0	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:30318651G>A	ENST00000375377.1	-	3	527	c.426C>T	c.(424-426)gcC>gcT	p.A142A		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	142										breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						GCAGGCTGTGGGCTTGGGCCA	0.572													A	30318651	G	A	30318651	2	1	588	1	0	0	0	0	0	0	0	1	8292	1219	43	2		2	KIAA1462	10	30318651	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08		30318651	105216096	14	49159											
NRAP	4892	broad.mit.edu	37	chr10	115380379	115380379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcacctcgctaatgagttctCctgccttcttcgcctgctcc	4	14	6	17	2	3	1	1	1	2	0	7	1	4	1	5	0	2	3	5	0	1	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:115380379C>T	ENST00000369358.4	-	25	3126	c.2882G>A	c.(2881-2883)gGa>gAa	p.G961E	NRAP_ENST00000369360.3_Missense_Mutation_p.G926E|NRAP_ENST00000359988.3_Missense_Mutation_p.G953E|NRAP_ENST00000360478.3_Missense_Mutation_p.G918E			Q86VF7	NRAP_HUMAN	nebulin-related anchoring protein	953						fascia adherens|muscle tendon junction	actin binding|muscle alpha-actinin binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(18)|lung(39)|ovary(6)|prostate(3)|skin(1)|stomach(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Colorectal(252;0.0233)|Breast(234;0.188)		Epithelial(162;0.00392)|all cancers(201;0.00569)		AATGAGTTCTCCTGCCTTCTT	0.498													T	115380379	C	T	115380379	3	4	588	1	0	0	0	0	1	0	0	0	10714	855	30	2	2406	2	NRAP	10	115380379	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	85061728	115380379	20154368	15	49160											
EIF3A	8661	broad.mit.edu	37	chr10	120802275	120802275	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctcgcccttctccacgTctccactccctacacagcaa	8	10	3	20	2	4	0	1	0	3	0	8	0	5	0	4	0	2	1	4	0	2	2			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr10:120802275T>G	ENST00000369144.3	-	19	2884	c.2757A>C	c.(2755-2757)agA>agC	p.R919S	EIF3A_ENST00000541549.1_Missense_Mutation_p.R885S	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	919					formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		CTTCTCCACGTCTCCACTCCC	0.423													G	120802275	T	G	120802275	3	3	588	1	0	0	0	0	1	0	0	0	5051	1664	58	5	1407	5	EIF3A	10	120802275	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08	5421896	120802275	14732472	16	49161											
ART5	116969	broad.mit.edu	37	chr11	3660100	3660100	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggccaagagcagagtcttCcaggggggcagagaggaggc	10	3	20	8	0	1	3	0	0	1	3	2	5	2	4	2	7	1	2	2	7	1	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:3660100C>T	ENST00000397067.3	-	4	795	c.666G>A	c.(664-666)tgG>tgA	p.W222*	ART5_ENST00000359918.4_Intron|ART5_ENST00000397068.3_Intron			Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5	219						extracellular region	NAD(P)+-protein-arginine ADP-ribosyltransferase activity			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAGAGTCTTCCAGGGGGGCA	0.612													T	3660100	C	T	3660100	4	4	588	1	0	0	0	0	0	1	0	0	1005	870	30	2		2	ART5	11	3660100	Nonsense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		3660100	131346416	17	49162											
OR5M11	219487	broad.mit.edu	37	chr11	56310625	56310625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggttgcctagcagggtgaCgaggtaaacaaccagaaaca	15	5	12	9	1	0	2	0	1	0	1	0	3	0	2	2	3	5	3	2	3	5	3			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:56310625C>T	ENST00000528616.2	-	1	132	c.109G>A	c.(109-111)Gtc>Atc	p.V37I		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	37					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						AGCAGGGTGACGAGGTAAACA	0.473													T	56310625	C	T	56310625	3	4	588	1	0	0	0	0	1	0	0	0	11250	536	19	1	811	1	OR5M11	11	56310625	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08	52650525	56310625	78695891	18	49163											
ZFPL1	7542	broad.mit.edu	37	chr11	64855417	64855417	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggagccgggctgggtctcGgaagcggccgctgaccctgc	5	5	17	14	4	1	1	0	1	1	0	2	3	1	3	3	5	3	2	3	5	1	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:64855417G>A	ENST00000294258.3	+	8	916	c.764G>A	c.(763-765)cGg>cAg	p.R255Q		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	255					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						GCTGGGTCTCGGAAGCGGCCG	0.697													A	64855417	G	A	64855417	3	1	588	1	0	0	0	0	1	0	0	0	17757	1116	39	1	790	1	ZFPL1	11	64855417	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	8544792	64855417	70151099	19	49164											
SORL1	6653	broad.mit.edu	37	chr11	121358800	121358800	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtttgacttctgcaacacTcttcaaggcttttccatccc	8	14	5	14	1	3	1	1	1	2	0	5	1	5	1	2	1	2	3	2	1	2	5			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr11:121358800T>A	ENST00000260197.7	+	4	717	c.588T>A	c.(586-588)acT>acA	p.T196T	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	196					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		TCTGCAACACTCTTCAAGGCT	0.517													A	121358800	T	A	121358800	2	1	588	1	0	0	0	0	0	0	0	1	15028	1538	54	5		5	SORL1	11	121358800	Silent	SNP	T	TCGA-HT-8113-01A-11D-2395-08	56503383	121358800	13647716	20	49165											
ACACB	32	broad.mit.edu	37	chr12	109690903	109690903	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtgtctcccacatcacCgtgccagatgactttgaggg	9	10	11	11	1	2	3	1	2	1	1	3	3	2	3	3	2	1	0	3	2	1	1			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr12:109690903C>T	ENST00000338432.7	+	43	6104	c.5985C>T	c.(5983-5985)acC>acT	p.T1995T	ACACB_ENST00000543201.1_Silent_p.T661T|ACACB_ENST00000377848.3_Silent_p.T1995T|ACACB_ENST00000377854.5_Silent_p.T1925T			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1995	Carboxyltransferase.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	CCCACATCACCGTGCCAGATG	0.512													T	109690903	C	T	109690903	2	4	588	1	0	0	0	0	0	0	0	1	107	639	23	1		1	ACACB	12	109690903	Silent	SNP	C	TCGA-HT-8113-01A-11D-2395-08		109690903	24160992	21	49166											
LATS2	26524	broad.mit.edu	37	chr13	21557659	21557659	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaggagtagtagagtttgAccacccactcattgtctgcc	10	10	11	10	0	2	2	1	1	1	1	2	4	2	4	3	2	1	3	3	2	3	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr13:21557659A>T	ENST00000382592.4	-	5	2591	c.2186T>A	c.(2185-2187)gTc>gAc	p.V729D	LATS2_ENST00000542899.1_Missense_Mutation_p.V729D	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	729	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		GTAGAGTTTGACCACCCACTC	0.537													T	21557659	A	T	21557659	3	4	588	1	0	0	0	0	1	0	0	0	8706	275	10	5	1096	5	LATS2	13	21557659	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		21557659	93612219	22	49167											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	588	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		90631838	11899554	23	49168											
C16orf62	57020	broad.mit.edu	37	chr16	19580757	19580757	+	Frame_Shift_Del	DEL	A	A	-																															tcctcacaggtcacagagtcAaagacaaagaaagtgaaccg																										TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:19580757delA	ENST00000438132.3	+	3	444	c.396delA	c.(394-396)tcafs	p.S132fs	C16orf62_ENST00000251143.5_Frame_Shift_Del_p.S43fs|C16orf62_ENST00000417362.2_Frame_Shift_Del_p.S43fs|C16orf62_ENST00000542263.1_Frame_Shift_Del_p.S132fs|C16orf62_ENST00000538853.1_Frame_Shift_Del_p.S132fs	NM_020314.5	NP_064710.4	Q7Z3J2	CP062_HUMAN	chromosome 16 open reading frame 62	43						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	36						TCACAGAGTCAAAGACAAAGA	0.527													-	19580757	A	-	19580757	7	5	588	1	0	1	0	1	0	0	0	0	1839	117	5	0	139	0	C16orf62	16	19580757	Frame_Shift_Del	DEL	A	TCGA-HT-8113-01A-11D-2395-08		19580757	70773996	24	49169											
ARMC5	79798	broad.mit.edu	37	chr16	31470908	31470908	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcgcgcagctcgcggcGgcggccggggaggctctggg	2	5	20	14	7	1	0	0	0	1	0	3	1	1	1	2	7	2	3	2	7	0	0			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:31470908G>A	ENST00000457010.2	+	1	764	c.63G>A	c.(61-63)gcG>gcA	p.A21A	ARMC5_ENST00000268314.4_Silent_p.A21A|RP11-452L6.5_ENST00000564629.1_RNA|ARMC5_ENST00000408912.3_Silent_p.A116A|ARMC5_ENST00000563544.1_Silent_p.A21A|ARMC5_ENST00000538189.1_Silent_p.A53A	NM_024742.2	NP_079018.1	Q96C12	ARMC5_HUMAN	armadillo repeat containing 5	21							binding			central_nervous_system(1)|endometrium(4)|large_intestine(3)|liver(2)|lung(12)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28						AGCTCGCGGCGGCGGCCGGGG	0.711													A	31470908	G	A	31470908	2	1	588	1	0	0	0	0	0	0	0	1	959	1103	39	1		1	ARMC5	16	31470908	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	11890151	31470908	58883845	25	49170											
TAF1C	9013	broad.mit.edu	37	chr16	84213255	84213255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagccactggctgcagccGgcagtgtcctgggaggtcca	6	8	14	13	1	1	0	1	0	0	0	3	1	3	1	4	4	3	3	4	4	0	1	rs145273391		TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr16:84213255G>A	ENST00000567759.1	-	14	2084	c.1902C>T	c.(1900-1902)gcC>gcT	p.A634A	TAF1C_ENST00000566732.1_Silent_p.A608A|TAF1C_ENST00000378541.4_Silent_p.A634A|TAF1C_ENST00000341690.6_Silent_p.A540A|TAF1C_ENST00000541676.1_Silent_p.A541A|TAF1C_ENST00000570117.1_Silent_p.A302A	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	634					regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGCTGCAGCCGGCAGTGTCCT	0.662													A	84213255	G	A	84213255	2	1	588	1	0	0	0	0	0	0	0	1	15618	1103	39	1		1	TAF1C	16	84213255	Silent	SNP	G	TCGA-HT-8113-01A-11D-2395-08	52742347	84213255	6141498	26	49171											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240511	39240511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccagggctgcagccaagAcctctgtcaggagacctgct	9	7	12	13	0	2	3	1	1	1	2	2	4	2	3	4	2	3	3	4	2	1	0	rs383835	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:39240511A>T	ENST00000391417.4	+	1	53	c.53A>T	c.(52-54)gAc>gTc	p.D18V		NM_033061.3	NP_149050.3			keratin associated protein 4-7											NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						TGCAGCCAAGACCTCTGTCAG	0.612													T	39240511	A	T	39240511	3	4	588	1	0	0	0	0	1	0	0	0	8614	275	10	5	55	5	KRTAP4-7	17	39240511	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		39240511	41954699	27	49172											
MRPS7	51081	broad.mit.edu	37	chr17	73258504	73258504	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggcgcgttggcagtcaTgcctattgttaagtcaaacc	8	11	11	11	4	2	0	2	0	0	0	3	0	2	0	2	2	2	3	2	2	3	4	rs116366134	by1000genomes	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr17:73258504T>C	ENST00000579002.1	+	1	512	c.97T>C	c.(97-99)Tgc>Cgc	p.C33R	MRPS7_ENST00000579761.1_Intron|MRPS7_ENST00000245539.6_Intron			Q9Y2R9	RT07_HUMAN	mitochondrial ribosomal protein S7	0					translation	cytosolic small ribosomal subunit|mitochondrion	protein binding|RNA binding|structural constituent of ribosome			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(2)	6	all_cancers(13;1.25e-07)|all_epithelial(9;2.63e-08)|Breast(9;1.06e-07)		all cancers(21;3.02e-07)|Epithelial(20;2.92e-06)			TTGGCAGTCATGCCTATTGTT	0.587													C	73258504	T	C	73258504	3	2	588	1	0	0	0	0	1	0	0	0	9924	1479	51	3		3	MRPS7	17	73258504	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08	34017993	73258504	7936706	28	49173											
ZNF177	7730	broad.mit.edu	37	chr19	9492389	9492389	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattcagtgtgaaaaagcctTtagcacaagcactaacctta	15	11	6	9	0	1	1	1	1	0	0	1	1	1	1	2	0	4	2	2	0	7	6			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:9492389T>G	ENST00000541595.2	+	12	1531	c.902T>G	c.(901-903)tTt>tGt	p.F301C	ZNF177_ENST00000602738.1_Missense_Mutation_p.F301C|ZNF177_ENST00000589262.1_Missense_Mutation_p.F461C|ZNF177_ENST00000434737.2_Missense_Mutation_p.F461C|ZNF177_ENST00000446085.4_3'UTR|ZNF177_ENST00000590616.1_Intron|ZNF177_ENST00000343499.4_Missense_Mutation_p.F301C|ZNF177_ENST00000602856.1_3'UTR	NM_001172650.2	NP_001166121.1	Q13360	ZN177_HUMAN	zinc finger protein 177	301					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|stomach(2)	13						GAAAAAGCCTTTAGCACAAGC	0.448													G	9492389	T	G	9492389	3	3	588	1	0	0	0	0	1	0	0	0	17847	1841	64	5	1400	5	ZNF177	19	9492389	Missense_Mutation	SNP	T	TCGA-HT-8113-01A-11D-2395-08		9492389	49636594	29	49174											
KCNK6	9424	broad.mit.edu	37	chr19	38817239	38817239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctttactcccctaggctatgGgtacacaacgccactgactg	9	10	8	14	1	0	1	0	1	0	0	1	1	1	1	3	2	3	2	3	2	5	5			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:38817239G>A	ENST00000263372.3	+	2	436	c.329G>A	c.(328-330)gGg>gAg	p.G110E		NM_004823.1	NP_004814.1	Q9Y257	KCNK6_HUMAN	potassium channel, subfamily K, member 6	110						voltage-gated potassium channel complex	inward rectifier potassium channel activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(3)	17	all_cancers(60;5.83e-07)		Lung(45;0.00047)|LUSC - Lung squamous cell carcinoma(53;0.000613)		Ibutilide(DB00308)|Quinidine(DB00908)	CTAGGCTATGGGTACACAACG	0.572													A	38817239	G	A	38817239	3	1	588	1	0	0	0	0	1	0	0	0	8128	1232	43	2	335	2	KCNK6	19	38817239	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	29324850	38817239	20311744	30	49175											
C19orf48	84798	broad.mit.edu	37	chr19	51301519	51301519	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggggtggctcctcccctaGcctgcaggaagcccttggta	5	8	14	14	1	0	0	0	0	0	0	2	1	2	1	5	5	3	3	5	5	3	3	rs144495841	byFrequency	TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr19:51301519G>C	ENST00000598463.1	-	5	1285	c.187C>G	c.(187-189)Cta>Gta	p.L63V	C19orf48_ENST00000596655.1_Missense_Mutation_p.L63V|C19orf48_ENST00000345523.4_Missense_Mutation_p.L63V|C19orf48_ENST00000391812.1_Missense_Mutation_p.L63V			Q6RUI8	CS048_HUMAN	chromosome 19 open reading frame 48	63										endometrium(1)|kidney(1)|lung(1)|ovary(1)	4		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00531)|GBM - Glioblastoma multiforme(134;0.0145)		TCCTCCCCTAGCCTGCAGGAA	0.617													C	51301519	G	C	51301519	3	2	588	1	0	0	0	0	1	0	0	0	1950	962	34	4	170	4	C19orf48	19	51301519	Missense_Mutation	SNP	G	TCGA-HT-8113-01A-11D-2395-08	12484280	51301519	7827464	31	49176											
PCBP3	54039	broad.mit.edu	37	chr21	47333995	47333995	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccttttactgcagcAcccgccgctgcccgttagtg	5	10	9	17	3	1	0	1	0	0	0	1	0	1	0	5	0	5	4	5	0	2	3			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chr21:47333995A>C	ENST00000400304.1	+	7	635	c.635A>C	c.(634-636)cAc>cCc	p.H212P	PCBP3_ENST00000400308.1_Intron|PCBP3_ENST00000400310.1_Intron|PCBP3_ENST00000400314.1_Intron|PCBP3_ENST00000449640.1_Intron|PCBP3_ENST00000400309.1_Intron			P57721	PCBP3_HUMAN	poly(rC) binding protein 3	225					mRNA metabolic process	cytosol|mitochondrion|nucleus|ribonucleoprotein complex	DNA binding|RNA binding			biliary_tract(1)|endometrium(3)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17	all_hematologic(128;0.24)			Colorectal(79;0.0411)|READ - Rectum adenocarcinoma(84;0.0649)		TTACTGCAGCACCCGCCGCTG	0.627													C	47333995	A	C	47333995	3	2	588	1	0	0	0	0	1	0	0	0	11578	174	6	5		5	PCBP3	21	47333995	Missense_Mutation	SNP	A	TCGA-HT-8113-01A-11D-2395-08		47333995	795900	32	49177											
WNK3	65267	broad.mit.edu	37	chrX	54335536	54335536	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactttaatcaccaatgacaCtcttagcaaatgaggtacgc	15	10	6	10	1	2	2	1	2	1	0	2	2	2	2	1	1	3	2	1	1	6	4			TCGA-HT-8113-01A-11D-2395-08	TCGA-HT-8113-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9e19353f-7e6b-4f4c-bcf4-6cfa746e6f2d	fcc61745-3e32-4bb2-843c-73edb053d9cf	g.chrX:54335536C>A	ENST00000354646.2	-	4	1361	c.923G>T	c.(922-924)aGt>aTt	p.S308I	WNK3_ENST00000375159.2_Missense_Mutation_p.S308I|WNK3_ENST00000375169.3_Missense_Mutation_p.S308I	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	308	Protein kinase.				intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						ACCAATGACACTCTTAGCAAA	0.413													A	54335536	C	A	54335536	3	1	588	1	0	0	0	0	1	0	0	0	17481	565	20	4	4563	4	WNK3	23	54335536	Missense_Mutation	SNP	C	TCGA-HT-8113-01A-11D-2395-08		54335536	100935024	33	49178											
SAMD13	148418	broad.mit.edu	37	chr1	84764244	84764244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacctcccggcgcggccatgCggggaggtaagtgatctgcc	7	6	15	13	4	1	1	0	1	1	0	2	2	2	2	4	5	3	1	4	5	2	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:84764244C>T	ENST00000370673.3	+	1	196	c.4C>T	c.(4-6)Cgg>Tgg	p.R2W		NM_001010971.2	NP_001010971.1	Q5VXD3	SAM13_HUMAN	sterile alpha motif domain containing 13	0										lung(4)	4				all cancers(265;0.00667)|Epithelial(280;0.0219)|OV - Ovarian serous cystadenocarcinoma(397;0.136)		CGCGGCCATGCGGGGAGGTAA	0.706													T	84764244	C	T	84764244	3	4	589	1	0	0	0	0	1	0	0	0	13909	759	27	1	6	1	SAMD13	1	84764244	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08		84764244	164486377	1	49179											
PKLR	5313	broad.mit.edu	37	chr1	155265503	155265503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcgcgcaatgttcatcccggCcttgatcatctccttgaggc	6	12	9	14	3	3	2	2	2	1	0	6	2	4	2	3	2	0	2	3	2	1	3			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr1:155265503C>T	ENST00000392414.3	-	3	348	c.235G>A	c.(235-237)Gcc>Acc	p.A79T	PKLR_ENST00000342741.4_Missense_Mutation_p.A110T	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	110					endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	TTCATCCCGGCCTTGATCATC	0.627													T	155265503	C	T	155265503	3	4	589	1	0	0	0	0	1	0	0	0	12053	739	26	2	1432	2	PKLR	1	155265503	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	70501259	155265503	93985118	2	49180											
C1D	10438	broad.mit.edu	37	chr2	68270036	68270036	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagttaacttttacttttTcctttattggcaacttttga	11	20	4	6	0	0	1	0	1	0	0	1	1	1	1	1	1	3	2	1	1	6	10			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:68270036T>G	ENST00000355848.3	-	5	458	c.411A>C	c.(409-411)ggA>ggC	p.G137G	C1D_ENST00000409302.1_Silent_p.G137G|C1D_ENST00000407324.1_Silent_p.G176G|C1D_ENST00000410067.3_Silent_p.G137G			Q13901	C1D_HUMAN	C1D nuclear receptor corepressor	137	Interaction with NCOR1 and NCOR2 (By similarity).				apoptosis|maturation of 5.8S rRNA|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear exosome (RNase complex)|nucleolus	DNA binding|RNA binding			lung(2)|urinary_tract(1)	3						TTTTACTTTTTCCTTTATTGG	0.423													G	68270036	T	G	68270036	2	3	589	1	0	0	0	0	0	0	0	1	1971	1770	62	5		5	C1D	2	68270036	Silent	SNP	T	TCGA-HT-8114-01A-11D-2395-08		68270036	174929337	3	49181											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	589	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	140843076	209113112	34086261	4	49182											
GPR98	84059	broad.mit.edu	37	chr5	90086940	90086940	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgacccacatggagtatttgCcctgtattcggatcgccagt	8	12	10	11	2	0	1	0	1	0	0	2	3	0	3	3	2	1	2	3	2	2	4			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:90086940C>T	ENST00000405460.2	+	70	14390	c.14294C>T	c.(14293-14295)gCc>gTc	p.A4765V	GPR98_ENST00000425867.2_Missense_Mutation_p.A426V	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4765					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GGAGTATTTGCCCTGTATTCG	0.448													T	90086940	C	T	90086940	3	4	589	1	0	0	0	0	1	0	0	0	6776	739	26	2	14572	2	GPR98	5	90086940	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08		90086940	90828320	5	49183											
PCDH12	51294	broad.mit.edu	37	chr5	141325159	141325159	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcagcatctccagcagtgaGctcatctccgagacaaaggt	12	7	10	12	1	3	2	1	1	2	1	5	3	3	2	2	1	4	4	2	1	1	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:141325159G>C	ENST00000231484.3	-	4	4552	c.3342C>G	c.(3340-3342)agC>agG	p.S1114R		NM_016580.2	NP_057664.1	Q9NPG4	PCD12_HUMAN	protocadherin 12	1114					neuron recognition	integral to plasma membrane	calcium ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(3)|prostate(2)|skin(1)	38		all_hematologic(541;0.0999)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCAGCAGTGAGCTCATCTCCG	0.662													C	141325159	G	C	141325159	3	2	589	1	0	0	0	0	1	0	0	0	11586	962	34	4	216	4	PCDH12	5	141325159	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	51238219	141325159	39590101	6	49184											
FAT2	2196	broad.mit.edu	37	chr5	150932869	150932869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccagagggatggaggacGgccggggccaagggatccac	10	2	19	10	2	0	1	0	0	0	1	1	5	1	5	4	8	0	0	4	8	1	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr5:150932869G>A	ENST00000261800.5	-	5	4037	c.4025C>T	c.(4024-4026)cCg>cTg	p.P1342L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1342	Cadherin 11.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGGAGGACGGCCGGGGCCA	0.582													A	150932869	G	A	150932869	3	1	589	1	0	0	0	0	1	0	0	0	5739	1116	39	1	9100	1	FAT2	5	150932869	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	9607710	150932869	29982391	7	49185											
BCLAF1	9774	broad.mit.edu	37	chr6	136597485	136597486	+	Frame_Shift_Del	DEL	TT	TT	-																															ccccttctgaatcattaaacTtttgttttccagactcttta																										TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136597485_136597486delTT	ENST00000531224.1	-	5	1429_1430	c.1177_1178delAA	c.(1177-1179)aagfs	p.K393fs	BCLAF1_ENST00000353331.4_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000530767.1_Intron|BCLAF1_ENST00000527759.1_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000392348.2_Frame_Shift_Del_p.K391fs|BCLAF1_ENST00000527536.1_Frame_Shift_Del_p.K393fs	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	393					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ATCATTAAACTTTTGTTTTCCA	0.436													-	136597486	TT	-	136597485	7	5	589	1	0	1	0	1	0	0	0	0	1388	1609	56	0	1620	0	BCLAF1	6	136597485	Frame_Shift_Del	DEL	TT	TCGA-HT-8114-01A-11D-2395-08		136597485	34517582	8	49186											
MAP7	9053	broad.mit.edu	37	chr6	136682203	136682203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgctcctccgcctgccgCtgcagctgctcctccttctc	1	10	8	22	3	1	0	0	0	1	0	6	0	5	0	7	0	4	5	7	0	0	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr6:136682203C>T	ENST00000354570.3	-	12	2051	c.1641G>A	c.(1639-1641)caG>caA	p.Q547Q	MAP7_ENST00000454590.1_Silent_p.Q569Q|MAP7_ENST00000544465.1_Silent_p.Q532Q|MAP7_ENST00000438100.2_Silent_p.Q532Q|MAP7_ENST00000432797.2_Silent_p.Q401Q	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	547					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		CCGCCTGCCGCTGCAGCTGCT	0.731													T	136682203	C	T	136682203	2	4	589	1	0	0	0	0	0	0	0	1	9341	796	28	2		2	MAP7	6	136682203	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08	84718	136682203	34432864	9	49187											
ATAD2	29028	broad.mit.edu	37	chr8	124351613	124351613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaattaaatcttcaaaaaatTttgtccgttcttctttatcc	12	18	3	8	1	4	0	1	0	3	0	6	1	6	0	2	0	0	1	2	0	7	8			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr8:124351613T>C	ENST00000287394.5	-	20	2899	c.2792A>G	c.(2791-2793)aAa>aGa	p.K931R	ATAD2_ENST00000521903.1_Missense_Mutation_p.K249R	NM_014109.3	NP_054828.2	Q6PL18	ATAD2_HUMAN	ATPase family, AAA domain containing 2	931					regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion|nucleus	ATP binding|ATPase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|lung(16)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	48	Lung NSC(37;1.25e-09)|Ovarian(258;0.00838)		STAD - Stomach adenocarcinoma(47;0.00288)			TTCAAAAAATTTTGTCCGTTC	0.274													C	124351613	T	C	124351613	3	2	589	1	0	0	0	0	1	0	0	0	1076	1841	64	3	1416	3	ATAD2	8	124351613	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		124351613	22012409	10	49188											
AGAP6	414189	broad.mit.edu	37	chr10	51769670	51769670	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagctgctgcgggccacCgctgatgaggacctgcagac	8	5	14	14	2	0	3	0	2	0	1	0	4	0	4	3	2	5	5	3	2	0	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr10:51769670C>T	ENST00000374056.4	+	7	2114	c.1716C>T	c.(1714-1716)acC>acT	p.T572T	AGAP6_ENST00000412531.3_Silent_p.T595T			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	595					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.T595T(1)		NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						TGCGGGCCACCGCTGATGAGG	0.627													T	51769670	C	T	51769670	2	4	589	1	0	0	0	0	0	0	0	1	372	639	23	1		1	AGAP6	10	51769670	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08		51769670	83765077	11	49189											
ROM1	6094	broad.mit.edu	37	chr11	62380964	62380964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgccctggcagcgggcGcggtggctctgggcacagga	5	5	19	12	3	1	0	0	0	1	0	1	1	1	1	1	7	2	4	1	7	0	0			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:62380964G>A	ENST00000278833.3	+	1	752	c.211G>A	c.(211-213)Gcg>Acg	p.A71T	ROM1_ENST00000534093.1_Intron	NM_000327.3	NP_000318	Q03395	ROM1_HUMAN	retinal outer segment membrane protein 1	71					cell adhesion|visual perception	integral to plasma membrane				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)	8						GGCAGCGGGCGCGGTGGCTCT	0.667													A	62380964	G	A	62380964	3	1	589	1	0	0	0	0	1	0	0	0	13612	1087	38	1	213	1	ROM1	11	62380964	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08		62380964	72625552	12	49190											
CRYAB	1410	broad.mit.edu	37	chr11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcccgactgttatggcttGggactggaatgtagccagcc	8	10	13	10	1	0	0	0	0	0	0	1	4	1	2	3	3	2	3	3	3	3	3			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000525823.1_Intron|CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000527950.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418													T	111780950	G	T	111780950	3	4	589	1	0	0	0	0	1	0	0	0	3937	1363	47	4		4	CRYAB	11	111780950	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	49399986	111780950	23225566	13	49191											
SRPR	6734	broad.mit.edu	37	chr11	126134414	126134414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgtccaccagcaccaCgtcaaagccttggttacgtg	8	9	10	14	3	1	0	1	0	0	0	2	0	2	0	5	1	4	2	5	1	2	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr11:126134414C>T	ENST00000332118.6	-	12	1700	c.1546G>A	c.(1546-1548)Gtg>Atg	p.V516M	SRPR_ENST00000532259.1_Missense_Mutation_p.V488M	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	516					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		ACCAGCACCACGTCAAAGCCT	0.507													T	126134414	C	T	126134414	3	4	589	1	0	0	0	0	1	0	0	0	15258	536	19	1	382	1	SRPR	11	126134414	Missense_Mutation	SNP	C	TCGA-HT-8114-01A-11D-2395-08	14353464	126134414	8872102	14	49192											
GAS6	2621	broad.mit.edu	37	chr13	114531664	114531664	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttgatgaccagattccgCgccagctcctcaacagagat	11	8	8	14	2	1	4	1	2	0	2	3	5	3	4	5	0	2	1	5	0	1	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr13:114531664C>T	ENST00000357389.3	-	11	1445	c.1293G>A	c.(1291-1293)gcG>gcA	p.A431A	GAS6_ENST00000418959.3_Silent_p.A89A|GAS6_ENST00000327773.6_Silent_p.A388A|GAS6_ENST00000355761.4_Silent_p.A334A|GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000450766.1_Silent_p.A115A			Q14393	GAS6_HUMAN	growth arrest-specific 6	431	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				CCAGATTCCGCGCCAGCTCCT	0.537													T	114531664	C	T	114531664	2	4	589	1	0	0	0	0	0	0	0	1	6303	755	27	1		1	GAS6	13	114531664	Silent	SNP	C	TCGA-HT-8114-01A-11D-2395-08		114531664	638214	15	49193											
ZC3H14	79882	broad.mit.edu	37	chr14	89044401	89044401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaattgctagcagaagtggTccagggacaaagtaggaccc	14	6	13	8	0	0	2	0	0	0	2	1	4	1	4	2	3	2	3	2	3	5	3			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:89044401T>C	ENST00000251038.5	+	9	1421	c.1196T>C	c.(1195-1197)gTc>gCc	p.V399A	ZC3H14_ENST00000336693.4_Missense_Mutation_p.V365A|ZC3H14_ENST00000557607.1_Missense_Mutation_p.V244A|ZC3H14_ENST00000555755.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000359301.3_Missense_Mutation_p.V365A|ZC3H14_ENST00000302216.8_Missense_Mutation_p.V399A|ZC3H14_ENST00000393514.5_Missense_Mutation_p.V399A|ZC3H14_ENST00000556945.1_Missense_Mutation_p.V399A|ZC3H14_ENST00000557605.1_3'UTR	NM_001160103.1|NM_001160104.1|NM_024824.4	NP_001153575.1|NP_001153576.1|NP_079100.2	Q6PJT7	ZC3HE_HUMAN	zinc finger CCCH-type containing 14	399						cytoplasm|nuclear speck	protein binding|RNA binding|zinc ion binding			cervix(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(2)	21						GCAGAAGTGGTCCAGGGACAA	0.388													C	89044401	T	C	89044401	3	2	589	1	0	0	0	0	1	0	0	0	17667	1667	58	3	1230	3	ZC3H14	14	89044401	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		89044401	18305139	16	49194											
PPP2R5C	5527	broad.mit.edu	37	chr14	102323220	102323220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttacccagaagtagtccatAtggtaagtgattacagttta	13	14	8	6	0	0	2	0	1	0	1	1	2	1	2	2	1	2	3	2	1	7	8	rs142106753		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr14:102323220A>G	ENST00000422945.2	+	4	481	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PPP2R5C_ENST00000334743.5_Missense_Mutation_p.M98V|PPP2R5C_ENST00000328724.5_Missense_Mutation_p.M153V|PPP2R5C_ENST00000445439.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000350249.3_Missense_Mutation_p.M98V|PPP2R5C_ENST00000557095.1_Missense_Mutation_p.M98V	NM_001161725.1	NP_001155197.1	Q13362	2A5G_HUMAN	protein phosphatase 2, regulatory subunit B', gamma	98					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|negative regulation of cell proliferation|proteasomal ubiquitin-dependent protein catabolic process|signal transduction	chromosome, centromeric region|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	20						AGTAGTCCATATGGTAAGTGA	0.418													G	102323220	A	G	102323220	3	3	589	1	0	0	0	0	1	0	0	0	12476	449	16	3	667	3	PPP2R5C	14	102323220	Missense_Mutation	SNP	A	TCGA-HT-8114-01A-11D-2395-08	13278819	102323220	5026320	17	49195											
TP53	7157	broad.mit.edu	37	chr17	7578291	7578291	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaggaggggccagaccTaagagcaatcagtgaggaat	13	6	15	7	0	1	4	1	2	0	2	1	6	1	6	2	4	2	2	2	4	3	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578291T>C	ENST00000420246.2	-	6	692		c.e6-2		TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(16)|p.0?(8)|p.G187fs*16(2)|p.D186_P191delDGLAPP(1)|p.L188fs*19(1)|p.G187_L188delGL(1)|p.G187fs*22(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)		GGGCCAGACCTAAGAGCAATC	0.552		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)			C	7578291	T	C	7578291	5	2	589	1	0	0	0	0	0	0	1	0	16482	1536	53	3	736	3	TP53	17	7578291	Splice_Site	SNP	T	TCGA-HT-8114-01A-11D-2395-08		7578291	73616919	18	49196			1	75		2	2	104	T		8.650402e-05
TP53	7157	broad.mit.edu	37	chr17	7578394	7578394	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctatctgagcagcgctcaTggtgggggcagcgcctcaca	7	7	14	13	3	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	1	1			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr17:7578394T>C	ENST00000420246.2	-	5	668	c.536A>G	c.(535-537)cAt>cGt	p.H179R	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179R|TP53_ENST00000359597.4_Missense_Mutation_p.H179R|TP53_ENST00000455263.2_Missense_Mutation_p.H179R|TP53_ENST00000445888.2_Missense_Mutation_p.H179R|TP53_ENST00000269305.4_Missense_Mutation_p.H179R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179R(108)|p.H179L(43)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47L(4)|p.H86L(4)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H179P(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.H86R(2)|p.H47R(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E171fs*1(1)|p.R174fs*3(1)|p.E171fs*61(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)		GCAGCGCTCATGGTGGGGGCA	0.642		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)			C	7578394	T	C	7578394	3	2	589	1	0	0	0	0	1	0	0	0	16482	1464	51	3	762	3	TP53	17	7578394	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08	103	7578394	73616816	19	49197			1	75		2	2	104	T		8.650402e-05
ZNF235	9310	broad.mit.edu	37	chr19	44793178	44793178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgacagggggaatcaTggtgcttggggaactgagag	10	8	16	7	0	1	2	1	2	0	1	1	5	1	4	1	5	2	1	1	5	2	2			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr19:44793178T>C	ENST00000291182.4	-	5	512	c.410A>G	c.(409-411)cAt>cGt	p.H137R	ZNF235_ENST00000589248.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_004234.4	NP_004225.3	Q14590	ZN235_HUMAN	zinc finger protein 235	137					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	29		Prostate(69;0.0352)|all_neural(266;0.116)				GGGGGAATCATGGTGCTTGGG	0.438													C	44793178	T	C	44793178	3	2	589	1	0	0	0	0	1	0	0	0	17889	1464	51	3	1810	3	ZNF235	19	44793178	Missense_Mutation	SNP	T	TCGA-HT-8114-01A-11D-2395-08		44793178	14335805	20	49198											
PRNP	5621	broad.mit.edu	37	chr20	4680251	4680251	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggggccttggcggctacAtgctgggaagtgccatgagc	6	8	18	9	1	0	1	0	1	0	0	0	2	0	2	2	6	4	2	2	6	2	2	rs1799990	byFrequency	TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr20:4680251A>G	ENST00000379440.4	+	2	672	c.385A>G	c.(385-387)Atg>Gtg	p.M129V	PRNP_ENST00000430350.2_Missense_Mutation_p.M129V	NM_000311.3|NM_001080121.1|NM_001080122.1|NM_001080123.1|NM_001271561.1|NM_183079.2	NP_000302.1|NP_001073590.1|NP_001073591.1|NP_001073592.1|NP_001258490.1|NP_898902.1	P04156	PRIO_HUMAN	prion protein	129	Interaction with GRB2, ERI3 and SYN1 (By similarity).		M -> V (polymorphism; determines the disease phenotype in patients who have a PrP mutation at position 178. Patients with M-129 develop FFI, those with V-129 develop CJD; dbSNP:rs1799990).		axon guidance|cell cycle arrest|cellular copper ion homeostasis|metabolic process|negative regulation of activated T cell proliferation|negative regulation of calcineurin-NFAT signaling pathway|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-2 production|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of T cell receptor signaling pathway|protein homooligomerization|response to oxidative stress	anchored to membrane|endoplasmic reticulum|extrinsic to membrane|Golgi apparatus|membrane raft|nucleus|plasma membrane	copper ion binding|identical protein binding|microtubule binding	p.M129V(2)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	14					Tetracycline(DB00759)	TGGCGGCTACATGCTGGGAAG	0.547													G	4680251	A	G	4680251	3	3	589	1	0	0	0	0	1	0	0	0	12630	217	8	3	387	3	PRNP	20	4680251	Missense_Mutation	SNP	A	TCGA-HT-8114-01A-11D-2395-08		4680251	58345269	21	49199											
ITSN1	6453	broad.mit.edu	37	chr21	35183494	35183494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcttcagagccctccacGacccctaataactgggccga	10	7	7	17	2	2	1	1	0	1	1	3	3	3	1	6	1	2	0	6	1	2	3			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547													A	35183494	G	A	35183494	2	1	589	1	0	0	0	0	0	0	0	1	7984	1045	37	1		1	ITSN1	21	35183494	Silent	SNP	G	TCGA-HT-8114-01A-11D-2395-08		35183494	12946401	22	49200											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													-	72433666	TCC	-	72433664	7	5	589	1	0	1	0	1	0	0	0	0	10233	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-HT-8114-01A-11D-2395-08		72433664	82836896	23	49201											
ATRX	546	broad.mit.edu	37	chrX	76937602	76937603	+	Frame_Shift_Ins	INS	-	-	T																															tttagaagttttatctcttaINStttttttacttttcttttct																										TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76937602_76937603insT	ENST00000373344.5	-	9	3359_3360	c.3145_3146insA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.I1011fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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)	TTTATCTCTTATTTTTTTACTT	0.327			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76937603	-	T	76937602	7	5	589	1	0	1	1	0	0	0	0	0	1213	449	16	0	4440	0	ATRX	23	76937602	Frame_Shift_Ins	INS	-	TCGA-HT-8114-01A-11D-2395-08	4503938	76937602	78332958	24	49202											
ATRX	546	broad.mit.edu	37	chrX	76938089	76938092	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															gccttctgctgaagagaaagTctctctctcttgttttcttt																								rs141180098		TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:76938089_76938092delTCTC	ENST00000373344.5	-	9	2870_2873	c.2656_2659delGAGA	c.(2656-2661)gagactfs	p.ET886fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.ET848fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	886					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.E886fs*18(1)|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)	GAAGAGAAAGTCTCTCTCTCTTGT	0.412			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938092	TCTC	-	76938089	7	5	589	1	0	1	0	1	0	0	0	0	1213	1667	58	0	4927	0	ATRX	23	76938089	Frame_Shift_Del	DEL	TCTC	TCGA-HT-8114-01A-11D-2395-08	487	76938089	78332471	25	49203											
HDX	139324	broad.mit.edu	37	chrX	83724060	83724060	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacctttgaatcccaactGgttcaattttacaaggtcgg	11	13	8	9	1	1	2	1	2	0	0	3	2	2	2	2	3	2	1	2	3	5	4			TCGA-HT-8114-01A-11D-2395-08	TCGA-HT-8114-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	787f4a0b-50dc-4321-be34-b6d5943d51bc	09e948c9-68d4-4b69-ad2d-ac1438f1e3b0	g.chrX:83724060G>T	ENST00000297977.5	-	3	782	c.671C>A	c.(670-672)cCa>cAa	p.P224Q	HDX_ENST00000373177.2_Missense_Mutation_p.P224Q|HDX_ENST00000506585.2_Missense_Mutation_p.P166Q	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	224						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATCCCAACTGGTTCAATTTT	0.413													T	83724060	G	T	83724060	3	4	589	1	0	0	0	0	1	0	0	0	7081	1348	47	4	1433	4	HDX	23	83724060	Missense_Mutation	SNP	G	TCGA-HT-8114-01A-11D-2395-08	6785971	83724060	71546500	26	49204											
MRPS9	64965	broad.mit.edu	37	chr2	105708997	105708997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgaacctgtacagtatgatGagcaaggaatggcctttagc	12	11	11	7	0	0	3	0	3	0	0	0	4	0	4	2	2	4	3	2	2	6	5	rs147161518	byFrequency	TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr2:105708997G>A	ENST00000258455.3	+	8	900	c.790G>A	c.(790-792)Gag>Aag	p.E264K		NM_182640.2	NP_872578.1	P82933	RT09_HUMAN	mitochondrial ribosomal protein S9	264					DNA damage response, detection of DNA damage|translation	mitochondrial small ribosomal subunit	protein binding|structural constituent of ribosome			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						ACAGTATGATGAGCAAGGAAT	0.368													A	105708997	G	A	105708997	3	1	590	1	0	0	0	0	1	0	0	0	9925	1291	45	2	820	2	MRPS9	2	105708997	Missense_Mutation	SNP	G	TCGA-HT-8558-01A-21D-2395-08		105708997	137490376	1	49205											
EML5	161436	broad.mit.edu	37	chr14	89154773	89154773	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatcattgtgtcattttTccccagtgtgcctatgtagc	8	15	7	11	0	2	0	2	0	0	0	3	0	3	0	3	0	2	1	3	0	2	5			TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr14:89154773T>C	ENST00000554922.1	-	18	2832	c.2584A>G	c.(2584-2586)Aaa>Gaa	p.K862E	EML5_ENST00000380664.5_Missense_Mutation_p.K862E|EML5_ENST00000352093.5_Intron	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	862						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						GTGTCATTTTTCCCCAGTGTG	0.388													C	89154773	T	C	89154773	3	2	590	1	0	0	0	0	1	0	0	0	5141	1792	62	3	3453	3	EML5	14	89154773	Missense_Mutation	SNP	T	TCGA-HT-8558-01A-21D-2395-08		89154773	18194767	2	49206											
ZNF682	91120	broad.mit.edu	37	chr19	20117231	20117231	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctccgctatgaattacCttatgttcagtaagaattga	11	16	6	8	1	2	3	1	2	1	1	4	3	3	3	2	0	1	3	2	0	6	7			TCGA-HT-8558-01A-21D-2395-08	TCGA-HT-8558-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	39730eb2-7516-40fe-9d21-c44df7ac4c82	2c877cd5-7754-43f2-9b8e-d7179110ee18	g.chr19:20117231C>G	ENST00000397165.2	-	4	1240	c.1080G>C	c.(1078-1080)aaG>aaC	p.K360N	ZNF682_ENST00000596019.1_Intron|ZNF682_ENST00000358523.5_Missense_Mutation_p.K328N|ZNF682_ENST00000397162.1_Missense_Mutation_p.K328N|ZNF682_ENST00000595736.1_Missense_Mutation_p.K284N|ZNF682_ENST00000597972.1_Missense_Mutation_p.K366N	NM_033196.2	NP_149973.1	O95780	ZN682_HUMAN	zinc finger protein 682	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	14						TATGAATTACCTTATGTTCAG	0.363													G	20117231	C	G	20117231	3	3	590	1	0	0	0	0	1	0	0	0	18190	680	24	4	420	4	ZNF682	19	20117231	Missense_Mutation	SNP	C	TCGA-HT-8558-01A-21D-2395-08		20117231	39011752	3	49207											
SLC44A5	204962	broad.mit.edu	37	chr1	75685524	75685524	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaaatgcagattgagagcAaaatgaaagttaaagctgga	19	7	11	4	0	0	3	0	2	0	2	0	5	0	4	0	1	4	5	0	1	6	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:75685524A>G	ENST00000370855.5	-	15	1252	c.1139T>C	c.(1138-1140)tTg>tCg	p.L380S	SLC44A5_ENST00000535611.1_Missense_Mutation_p.L250S|SLC44A5_ENST00000370859.3_Missense_Mutation_p.L380S	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	380						integral to membrane|plasma membrane	choline transmembrane transporter activity			kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						GATTGAGAGCAAAATGAAAGT	0.368													G	75685524	A	G	75685524	3	3	591	1	0	0	0	0	1	0	0	0	14733	131	5	3	1171	3	SLC44A5	1	75685524	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		75685524	173565097	1	49208											
ST6GALNAC3	256435	broad.mit.edu	37	chr1	77093225	77093225	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattcacgtctacgggatgAtaaatgacacctactgcaag	13	9	9	10	2	2	2	1	2	1	0	2	3	2	3	1	1	3	2	1	1	5	4			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:77093225A>T	ENST00000328299.3	+	4	860	c.712A>T	c.(712-714)Ata>Tta	p.I238L		NM_152996.2	NP_694541.2	Q8NDV1	SIA7C_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 3	238					protein glycosylation	integral to Golgi membrane	sialyltransferase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|ovary(3)|prostate(1)|skin(2)	36						CTACGGGATGATAAATGACAC	0.413													T	77093225	A	T	77093225	3	4	591	1	0	0	0	0	1	0	0	0	15321	333	12	5	740	5	ST6GALNAC3	1	77093225	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	1407701	77093225	172157396	2	49209											
OLFML2B	25903	broad.mit.edu	37	chr1	161967933	161967933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccactgaggcatggttggCgatgctgggatctgaggtcg	6	10	16	9	2	1	2	0	2	1	0	3	4	2	3	1	5	1	3	1	5	0	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr1:161967933C>T	ENST00000294794.3	-	6	1579	c.1156G>A	c.(1156-1158)Gcc>Acc	p.A386T	OLFML2B_ENST00000367940.2_Missense_Mutation_p.A387T	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	386										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GCATGGTTGGCGATGCTGGGA	0.612													T	161967933	C	T	161967933	3	4	591	1	0	0	0	0	1	0	0	0	10934	768	27	1	1108	1	OLFML2B	1	161967933	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	84874708	161967933	87282688	3	49210											
MGAT5	4249	broad.mit.edu	37	chr2	135180442	135180442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtggactgttgacctcaaCaatcaggaggaagtagagga	13	8	14	6	0	2	2	2	1	0	1	2	6	2	6	1	4	1	2	1	4	4	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:135180442C>G	ENST00000409645.1	+	14	1998	c.1746C>G	c.(1744-1746)aaC>aaG	p.N582K	MGAT5_ENST00000281923.2_Missense_Mutation_p.N582K			Q09328	MGT5A_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase	582					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|pancreas(1)|skin(3)	36				BRCA - Breast invasive adenocarcinoma(221;0.0964)		TTGACCTCAACAATCAGGAGG	0.448													G	135180442	C	G	135180442	3	3	591	1	0	0	0	0	1	0	0	0	9623	477	17	4	1796	4	MGAT5	2	135180442	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		135180442	108018931	4	49211											
TTN	7273	broad.mit.edu	37	chr2	179413638	179413638	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtcacttcacagctgtcGccttttccagcaccattgat	8	12	6	15	1	2	1	2	1	0	0	4	1	3	1	4	0	2	2	4	0	0	4	rs140576051	by1000genomes	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:179413638G>A	ENST00000589042.1	-	339	92939	c.92715C>T	c.(92713-92715)ggC>ggT	p.G30905G	TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Silent_p.G29264G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Silent_p.G21965G|TTN_ENST00000460472.2_Silent_p.G21840G|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.G28337G|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.G22032G	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29264	Fibronectin type-III 125.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACAGCTGTCGCCTTTTCCAG	0.423													A	179413638	G	A	179413638	2	1	591	1	0	0	0	0	0	0	0	1	16837	1074	38	1		1	TTN	2	179413638	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	44233196	179413638	63785735	5	49212											
DNAJC10	54431	broad.mit.edu	37	chr2	183593668	183593668	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgatagaatgctttgcCgaatgaaaggagtcaacagc	14	9	12	6	1	1	4	1	3	0	1	1	6	1	5	1	1	4	1	1	1	5	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:183593668C>T	ENST00000264065.7	+	7	995	c.580C>T	c.(580-582)Cga>Tga	p.R194*	DNAJC10_ENST00000537515.1_Nonsense_Mutation_p.R194*	NM_018981.1	NP_061854.1	Q8IXB1	DJC10_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 10		Thioredoxin 1.				apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|ER-associated protein catabolic process|glycerol ether metabolic process|negative regulation of protein phosphorylation|protein folding|response to endoplasmic reticulum stress	endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|extracellular region	ATPase activator activity|ATPase binding|chaperone binding|electron carrier activity|heat shock protein binding|misfolded protein binding|protein disulfide oxidoreductase activity|unfolded protein binding			breast(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(15)|ovary(1)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AATGCTTTGCCGAATGAAAGG	0.378													T	183593668	C	T	183593668	4	4	591	1	0	0	0	0	0	1	0	0	4668	644	23	1	598	1	DNAJC10	2	183593668	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	4180030	183593668	59605705	6	49213											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	591	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	25519444	209113112	34086261	7	49214											
ZBTB20	26137	broad.mit.edu	37	chr3	114070216	114070216	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgtccacgctgtgctGtgggtggctctgcaggtagc	4	11	15	11	1	1	0	0	0	1	0	3	1	3	0	2	3	3	5	2	3	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr3:114070216G>A	ENST00000462705.1	-	11	1311	c.490C>T	c.(490-492)Cag>Tag	p.Q164*	ZBTB20_ENST00000474710.1_Nonsense_Mutation_p.Q237*|ZBTB20_ENST00000357258.3_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000481632.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000464560.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000471418.1_Nonsense_Mutation_p.Q164*|ZBTB20_ENST00000393785.2_Nonsense_Mutation_p.Q164*	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	237	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		ACGCTGTGCTGTGGGTGGCTC	0.657													A	114070216	G	A	114070216	4	1	591	1	0	0	0	0	0	1	0	0	17630	1386	48	2	1524	2	ZBTB20	3	114070216	Nonsense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08		114070216	83952214	8	49215											
STK32B	55351	broad.mit.edu	37	chr4	5461892	5461892	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacatacagagcgtgccctaCttggccgacatgaactggga	11	7	12	11	2	0	2	0	1	0	1	0	5	0	3	2	2	5	0	2	2	3	3			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:5461892C>G	ENST00000282908.5	+	9	1268	c.846C>G	c.(844-846)taC>taG	p.Y282*	STK32B_ENST00000508728.1_3'UTR|STK32B_ENST00000512636.1_Nonsense_Mutation_p.Y205*|STK32B_ENST00000510398.1_Nonsense_Mutation_p.Y235*	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	282	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						GCGTGCCCTACTTGGCCGACA	0.562											OREG0016061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	5461892	C	G	5461892	4	3	591	1	0	0	0	0	0	1	0	0	15394	576	20	4	880	4	STK32B	4	5461892	Nonsense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		5461892	185692384	9	49216											
PPARGC1A	10891	broad.mit.edu	37	chr4	23815630	23815630	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataggtagtttggagaattgTtcattactgaaatcactgtc	12	15	9	5	0	2	2	2	1	0	1	3	3	2	2	0	2	1	3	0	2	5	6			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr4:23815630T>C	ENST00000264867.2	-	8	1595	c.1476A>G	c.(1474-1476)gaA>gaG	p.E492E	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	492					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TGGAGAATTGTTCATTACTGA	0.458													C	23815630	T	C	23815630	2	2	591	1	0	0	0	0	0	0	0	1	12377	1722	60	3		3	PPARGC1A	4	23815630	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	18353738	23815630	167338646	10	49217											
MPP7	143098	broad.mit.edu	37	chr10	28414006	28414006	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccccggtctgttcatccttCttaatggtagctccctttta	5	16	7	13	1	3	0	1	0	2	0	5	0	5	0	4	2	1	3	4	2	3	6			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr10:28414006C>T	ENST00000337532.5	-	8	738	c.462G>A	c.(460-462)aaG>aaA	p.K154K	MPP7_ENST00000375719.3_Silent_p.K154K|MPP7_ENST00000540098.1_Silent_p.K154K|MPP7_ENST00000445954.2_Silent_p.K29K|MPP7_ENST00000375732.1_Silent_p.K154K|MPP7_ENST00000481244.1_5'UTR	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	154	PDZ.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GTTCATCCTTCTTAATGGTAG	0.403													T	28414006	C	T	28414006	2	4	591	1	0	0	0	0	0	0	0	1	9815	912	32	2		2	MPP7	10	28414006	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		28414006	107120741	11	49218											
OR5AN1	390195	broad.mit.edu	37	chr11	59132063	59132063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatctctggcctggaacctCtccctcattgttttaataag	9	14	6	12	0	3	0	1	0	2	0	5	1	3	1	3	2	1	1	3	2	3	4			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:59132063C>T	ENST00000313940.2	+	1	179	c.132C>T	c.(130-132)ctC>ctT	p.L44L		NM_001004729.1	NP_001004729.1	Q8NGI8	O5AN1_HUMAN	olfactory receptor, family 5, subfamily AN, member 1	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	21						CCTGGAACCTCTCCCTCATTG	0.428													T	59132063	C	T	59132063	2	4	591	1	0	0	0	0	0	0	0	1	11219	900	32	2		2	OR5AN1	11	59132063	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08		59132063	75874453	12	49219											
MYO7A	4647	broad.mit.edu	37	chr11	76877199	76877199	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcagatcttccaggccgaTgtcgccatggtaagccgggt	9	8	13	11	3	1	1	0	0	1	1	3	2	2	1	4	3	2	2	4	3	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr11:76877199T>A	ENST00000409709.3	+	15	2060	c.1788T>A	c.(1786-1788)gaT>gaA	p.D596E	MYO7A_ENST00000409619.2_Missense_Mutation_p.D585E|MYO7A_ENST00000409893.1_Missense_Mutation_p.D596E|MYO7A_ENST00000458637.2_Missense_Mutation_p.D596E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	596	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						TCCAGGCCGATGTCGCCATGG	0.587													A	76877199	T	A	76877199	3	1	591	1	0	0	0	0	1	0	0	0	10158	1461	51	5	1842	5	MYO7A	11	76877199	Missense_Mutation	SNP	T	TCGA-HT-8563-01A-11D-2395-08	17745136	76877199	58129317	13	49220											
LRRIQ1	84125	broad.mit.edu	37	chr12	85518292	85518292	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaatattgagcctagtgaAaaaatgtaagatatataaat	21	11	6	3	0	0	3	0	2	0	1	0	3	0	3	1	0	1	1	1	0	12	7			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:85518292A>G	ENST00000393217.2	+	17	4063	c.4002A>G	c.(4000-4002)gaA>gaG	p.E1334E		NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1334										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AGCCTAGTGAAAAAATGTAAG	0.323													G	85518292	A	G	85518292	2	3	591	1	0	0	0	0	0	0	0	1	9099	11	1	3		3	LRRIQ1	12	85518292	Silent	SNP	A	TCGA-HT-8563-01A-11D-2395-08		85518292	48333603	14	49221											
KSR2	283455	broad.mit.edu	37	chr12	118199044	118199044	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggaccgcgtgccgctgcCggggcgatgggggcagggaa	5	4	21	11	6	0	0	0	0	0	0	0	3	0	2	3	6	3	2	3	6	1	0			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:118199044C>T	ENST00000425217.1	-	4	725	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	KSR2_ENST00000339824.5_Missense_Mutation_p.R253Q	NM_173598.4	NP_775869.3	Q6VAB6	KSR2_HUMAN	kinase suppressor of ras 2	253	Pro-rich.				intracellular signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(25)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GTGCCGCTGCCGGGGCGATGG	0.716													T	118199044	C	T	118199044	3	4	591	1	0	0	0	0	1	0	0	0	8641	652	23	1	2162	1	KSR2	12	118199044	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	32680752	118199044	15652851	15	49222											
ANAPC5	51433	broad.mit.edu	37	chr12	121790075	121790075	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccagtccttgatgccgaaCacattggcgtgcacaacccc	10	7	8	16	2	0	1	0	1	0	0	1	2	1	1	5	1	4	1	5	1	2	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:121790075C>G	ENST00000261819.3	-	1	190	c.69G>C	c.(67-69)gtG>gtC	p.V23V	ANAPC5_ENST00000541887.1_Silent_p.V23V	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	23					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGATGCCGAACACATTGGCGT	0.632													G	121790075	C	G	121790075	2	3	591	1	0	0	0	0	0	0	0	1	605	465	17	4		4	ANAPC5	12	121790075	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	3591031	121790075	12061820	16	49223											
KDM2B	84678	broad.mit.edu	37	chr12	122012481	122012481	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgacgtctcggactgtgAaatcagggtcaggcatcctg	8	11	13	9	2	3	2	2	2	1	0	5	3	4	3	1	3	0	2	1	3	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr12:122012481A>C	ENST00000377069.4	-	4	681	c.275T>G	c.(274-276)tTc>tGc	p.F92C	KDM2B_ENST00000538046.2_Missense_Mutation_p.F123C|KDM2B_ENST00000377071.4_Missense_Mutation_p.F123C|KDM2B_ENST00000536437.1_Missense_Mutation_p.F6C	NM_001005366.1	NP_001005366.1	Q8NHM5	KDM2B_HUMAN	lysine (K)-specific demethylase 2B	123					embryonic camera-type eye morphogenesis|fourth ventricle development|histone H2A monoubiquitination|initiation of neural tube closure|lateral ventricle development|midbrain development|midbrain-hindbrain boundary morphogenesis|negative regulation of neural precursor cell proliferation|negative regulation of neuron apoptosis|negative regulation of transcription from RNA polymerase II promoter|spermatogenesis|third ventricle development|transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|rRNA binding|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	19						TCGGACTGTGAAATCAGGGTC	0.567													C	122012481	A	C	122012481	3	2	591	1	0	0	0	0	1	0	0	0	8183	246	9	5	3774	5	KDM2B	12	122012481	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	222406	122012481	11839414	17	49224											
SOS2	6655	broad.mit.edu	37	chr14	50655245	50655245	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacagctttctatcagaaagAaaggcttctcgaaacacttt	15	11	6	9	1	3	2	1	0	2	2	4	3	3	2	0	1	3	2	0	1	5	4			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr14:50655245A>C	ENST00000216373.5	-	5	958	c.684T>G	c.(682-684)ttT>ttG	p.F228L	SOS2_ENST00000543680.1_Missense_Mutation_p.F228L	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	228	DH.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TATCAGAAAGAAAGGCTTCTC	0.338													C	50655245	A	C	50655245	3	2	591	1	0	0	0	0	1	0	0	0	15031	243	9	5	3390	5	SOS2	14	50655245	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		50655245	56694295	18	49225											
TSC2	7249	broad.mit.edu	37	chr16	2122981	2122981	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactacctggacaaaaccaaAcaggtaggaggtcagagcag	17	4	11	9	0	1	1	1	0	0	1	1	3	1	3	2	4	5	2	2	4	6	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:2122981A>C	ENST00000219476.3	+	21	2982	c.2352A>C	c.(2350-2352)aaA>aaC	p.K784N	TSC2_ENST00000401874.2_Missense_Mutation_p.K784N|TSC2_ENST00000350773.4_Missense_Mutation_p.K784N|TSC2_ENST00000382538.6_Missense_Mutation_p.K735N|TSC2_ENST00000439673.2_Missense_Mutation_p.K747N|TSC2_ENST00000353929.4_Missense_Mutation_p.K784N|TSC2_ENST00000568454.1_Missense_Mutation_p.K795N	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	784					cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				ACAAAACCAAACAGGTAGGAG	0.547			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				C	2122981	A	C	2122981	3	2	591	1	0	0	0	0	1	0	0	0	16707	40	2	5	2430	5	TSC2	16	2122981	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08		2122981	88231772	19	49226											
ACSM2A	123876	broad.mit.edu	37	chr16	20492162	20492162	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtaccggattggaccctcGgaggtagagaatgcactgat	11	8	14	8	2	0	2	0	1	0	1	1	6	0	5	2	5	2	3	2	5	3	3			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:20492162G>A	ENST00000573854.1	+	12	1542	c.1428G>A	c.(1426-1428)tcG>tcA	p.S476S	ACSM2A_ENST00000536134.1_Silent_p.S248S|ACSM2A_ENST00000219054.6_Silent_p.S476S|ACSM2A_ENST00000575690.1_Silent_p.S476S|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000396104.2_Silent_p.S476S|ACSM2A_ENST00000417235.2_Silent_p.S397S	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	476					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TTGGACCCTCGGAGGTAGAGA	0.567													A	20492162	G	A	20492162	2	1	591	1	0	0	0	0	0	0	0	1	183	1103	39	1		1	ACSM2A	16	20492162	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	18369181	20492162	69862591	20	49227											
POLR2C	5432	broad.mit.edu	37	chr16	57504925	57504925	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctgtggctctctgcgtcCtgaaaccattgtcctgtcag	5	13	10	13	1	2	1	1	1	1	0	6	1	5	1	4	1	2	1	4	1	1	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57504925C>G	ENST00000219252.5	+	9	1060	c.722C>G	c.(721-723)cCt>cGt	p.P241R		NM_032940.2	NP_116558.1	P19387	RPB3_HUMAN	polymerase (RNA) II (DNA directed) polypeptide C, 33kDa	241					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|protein dimerization activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|upper_aerodigestive_tract(1)	10						TCTCTGCGTCCTGAAACCATT	0.512													G	57504925	C	G	57504925	3	3	591	1	0	0	0	0	1	0	0	0	12293	681	24	4	756	4	POLR2C	16	57504925	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	37012763	57504925	32849828	21	49228											
CCDC135	84229	broad.mit.edu	37	chr16	57741426	57741426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctgcgggtgcactcctggGtccttgtgctatcggggaag	4	10	16	11	2	0	0	0	0	0	0	3	1	2	1	3	4	3	2	3	4	2	2	rs114224823	byFrequency	TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:57741426G>A	ENST00000360716.3	+	8	1134	c.913G>A	c.(913-915)Gtc>Atc	p.V305I	CCDC135_ENST00000336825.8_Missense_Mutation_p.V240I|CCDC135_ENST00000394337.4_Missense_Mutation_p.V305I			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	305						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GCACTCCTGGGTCCTTGTGCT	0.592													A	57741426	G	A	57741426	3	1	591	1	0	0	0	0	1	0	0	0	2795	1261	44	2	935	2	CCDC135	16	57741426	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	236501	57741426	32613327	22	49229											
FAM65A	79567	broad.mit.edu	37	chr16	67578714	67578714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaggcggtgggagatcccGgccagctctgcccaggaagg	8	4	17	12	2	1	1	0	0	1	1	2	3	2	2	3	6	3	2	3	6	1	0	rs146173403		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr16:67578714G>A	ENST00000540839.3	+	17	3127	c.2907G>A	c.(2905-2907)ccG>ccA	p.P969P	FAM65A_ENST00000042381.4_Silent_p.P950P|FAM65A_ENST00000422602.2_Silent_p.P970P|FAM65A_ENST00000379312.3_Silent_p.P954P|FAM65A_ENST00000428437.2_Silent_p.P964P			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	954						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		GGGAGATCCCGGCCAGCTCTG	0.652													A	67578714	G	A	67578714	2	1	591	1	0	0	0	0	0	0	0	1	5649	1103	39	1		1	FAM65A	16	67578714	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08	9837288	67578714	22776039	23	49230											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	591	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08		7577538	73617672	24	49231											
TP53	7157	broad.mit.edu	37	chr17	7578475	7578475	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgcggacgcgggtgccgggcGggggtgtggaatcaacccac	6	4	19	12	6	1	0	1	0	0	0	1	2	1	2	2	6	2	0	2	6	2	0	rs137852790		TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:7578475G>T	ENST00000420246.2	-	5	587	c.455C>A	c.(454-456)cCg>cAg	p.P152Q	TP53_ENST00000455263.2_Missense_Mutation_p.P152Q|TP53_ENST00000269305.4_Missense_Mutation_p.P152Q|TP53_ENST00000445888.2_Missense_Mutation_p.P152Q|TP53_ENST00000413465.2_Missense_Mutation_p.P152Q|TP53_ENST00000359597.4_Missense_Mutation_p.P152Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	152	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> Q (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P152L(66)|p.P152R(8)|p.0?(8)|p.T150fs*16(6)|p.?(5)|p.P153fs*28(5)|p.P152fs*18(5)|p.P152fs*14(5)|p.P152Q(4)|p.P59L(2)|p.P20L(2)|p.P153fs*16(1)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P59R(1)|p.P20R(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.S149fs*17(1)|p.P152fs*27(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.T18fs*16(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)		GGTGCCGGGCGGGGGTGTGGA	0.612		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)			T	7578475	G	T	7578475	3	4	591	1	0	0	0	0	1	0	0	0	16482	1116	39	4	843	4	TP53	17	7578475	Missense_Mutation	SNP	G	TCGA-HT-8563-01A-11D-2395-08	937	7578475	73616735	25	49232											
TMEM104	54868	broad.mit.edu	37	chr17	72832811	72832811	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggccaatatcatcctcagCgagaccaagctctgatggca	12	7	9	13	2	3	2	2	1	1	1	4	3	4	2	3	2	2	2	3	2	3	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr17:72832811C>G	ENST00000335464.5	+	10	1638	c.1476C>G	c.(1474-1476)agC>agG	p.S492R	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.S492R	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	492						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					TCATCCTCAGCGAGACCAAGC	0.602													G	72832811	C	G	72832811	3	3	591	1	0	0	0	0	1	0	0	0	16118	767	27	4	1510	4	TMEM104	17	72832811	Missense_Mutation	SNP	C	TCGA-HT-8563-01A-11D-2395-08	65254336	72832811	8362399	26	49233											
DERL3	91319	broad.mit.edu	37	chr22	24179853	24179853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccgggaggctcacccagcagGtccacgaggatggagttgcc	8	5	15	13	2	1	0	1	0	0	0	2	4	2	3	4	5	2	3	4	5	0	1			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chr22:24179853G>A	ENST00000406855.3	-	5	534	c.516C>T	c.(514-516)gaC>gaT	p.D172D	DERL3_ENST00000318109.7_Silent_p.D172D|DERL3_ENST00000476077.1_Silent_p.D172D|DERL3_ENST00000404056.1_Intron	NM_001002862.2|NM_001135751.1|NM_198440.3	NP_001002862.1|NP_001129223.1|NP_940842.2	Q96Q80	DERL3_HUMAN	derlin 3	172					endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process	integral to endoplasmic reticulum membrane	protein binding			ovary(1)|prostate(1)|skin(1)	3						CACCCAGCAGGTCCACGAGGA	0.642													A	24179853	G	A	24179853	2	1	591	1	0	0	0	0	0	0	0	1	4487	1252	44	2		2	DERL3	22	24179853	Silent	SNP	G	TCGA-HT-8563-01A-11D-2395-08		24179853	27124713	27	49234											
ATRX	546	broad.mit.edu	37	chrX	76890195	76890195	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccacataaactgaacacCtaaaaataacagcttcatta	19	9	2	11	0	1	1	1	1	0	0	2	1	2	1	2	0	4	1	2	0	8	5			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:76890195C>G	ENST00000373344.5	-	17	4914		c.e17-1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	AACTGAACACCTAAAAATAAC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76890195	C	G	76890195	5	3	591	1	0	0	0	0	0	0	1	0	1213	695	24	4	2855	4	ATRX	23	76890195	Splice_Site	SNP	C	TCGA-HT-8563-01A-11D-2395-08		76890195	78380365	28	49235											
GPRASP2	114928	broad.mit.edu	37	chrX	101970909	101970909	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggcccagaaagatgttgAcagtgatagggtcaaacaag	15	6	13	7	0	1	4	1	2	0	2	1	4	1	4	1	2	1	1	1	2	4	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:101970909A>G	ENST00000543253.1	+	5	2031	c.1112A>G	c.(1111-1113)gAc>gGc	p.D371G	GPRASP2_ENST00000535209.1_Missense_Mutation_p.D371G|GPRASP2_ENST00000332262.5_Missense_Mutation_p.D371G	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						AAAGATGTTGACAGTGATAGG	0.483													G	101970909	A	G	101970909	3	3	591	1	0	0	0	0	1	0	0	0	6778	275	10	3	1114	3	GPRASP2	23	101970909	Missense_Mutation	SNP	A	TCGA-HT-8563-01A-11D-2395-08	25080714	101970909	53299651	29	49236											
RAB33A	9363	broad.mit.edu	37	chrX	129318702	129318702	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctaacagtaaaacttcCtgtccttgttgaaaccaaac	15	10	6	10	0	0	1	0	1	0	0	2	2	2	1	3	0	5	3	3	0	6	5			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:129318702C>G	ENST00000257017.4	+	2	1116	c.702C>G	c.(700-702)tcC>tcG	p.S234S		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	234					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTAAAACTTCCTGTCCTTGTT	0.438													G	129318702	C	G	129318702	2	3	591	1	0	0	0	0	0	0	0	1	13010	668	24	4		4	RAB33A	23	129318702	Silent	SNP	C	TCGA-HT-8563-01A-11D-2395-08	27347793	129318702	25951858	30	49237											
MAGEC1	9947	broad.mit.edu	37	chrX	140995062	140995062	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggaattccagtcttcTctccagagccctgtgagcat	8	10	12	11	0	2	2	0	1	2	1	5	4	4	4	3	3	2	1	3	3	1	2			TCGA-HT-8563-01A-11D-2395-08	TCGA-HT-8563-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3c1bab17-40da-40e8-9739-c360d082f6bd	fde28c63-fec0-4e41-a02d-54bbb121fbc9	g.chrX:140995062T>C	ENST00000285879.4	+	4	2158	c.1872T>C	c.(1870-1872)tcT>tcC	p.S624S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	624							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCAGTCTTCTCTCCAGAGCC	0.567										HNSCC(15;0.026)			C	140995062	T	C	140995062	2	2	591	1	0	0	0	0	0	0	0	1	9255	1538	54	3		3	MAGEC1	23	140995062	Silent	SNP	T	TCGA-HT-8563-01A-11D-2395-08	11676360	140995062	14275498	31	49238											
MMEL1	79258	broad.mit.edu	37	chr1	2541236	2541236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaagtcgtcacacggttcCgtggtcgggtccatgttctg	6	12	13	10	4	2	1	1	0	1	1	6	1	4	1	2	3	0	2	2	3	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:2541236C>T	ENST00000288709.6	-	5	540	c.300G>A	c.(298-300)acG>acA	p.T100T	MMEL1_ENST00000378412.3_Silent_p.T109T|MMEL1_ENST00000502556.1_Silent_p.T109T	NM_033467.3	NP_258428.2	Q495T6	MMEL1_HUMAN	membrane metallo-endopeptidase-like 1	109					proteolysis	extracellular region|integral to membrane|intracellular membrane-bounded organelle	metal ion binding|metalloendopeptidase activity			cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|urinary_tract(1)	27	all_cancers(77;0.000233)|all_epithelial(69;8.55e-05)|all_lung(157;0.0228)|Lung NSC(156;0.0402)|Ovarian(185;0.0634)	all_epithelial(116;1.03e-20)|all_lung(118;5.15e-09)|Lung NSC(185;9.02e-07)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.123)		Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;8.52e-23)|GBM - Glioblastoma multiforme(42;1.49e-08)|Colorectal(212;4.79e-05)|COAD - Colon adenocarcinoma(227;0.000213)|Kidney(185;0.000371)|BRCA - Breast invasive adenocarcinoma(365;0.00219)|KIRC - Kidney renal clear cell carcinoma(229;0.00571)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.131)		CACACGGTTCCGTGGTCGGGT	0.602													T	2541236	C	T	2541236	2	4	592	1	0	0	0	0	0	0	0	1	9721	639	23	1		1	MMEL1	1	2541236	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2541236	246709385	1	49239											
CHD5	26038	broad.mit.edu	37	chr1	6202326	6202326	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccacatctcaaactcGcgttcccagttgatgatggt	8	10	10	13	3	1	2	1	2	1	0	4	2	2	2	2	2	1	2	2	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6202326G>A	ENST00000262450.3	-	15	2397	c.2298C>T	c.(2296-2298)cgC>cgT	p.R766R	CHD5_ENST00000378021.1_5'UTR	NM_015557.2	NP_056372.1	Q8TDI0	CHD5_HUMAN	chromodomain helicase DNA binding protein 5	766	Helicase ATP-binding.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|zinc ion binding			breast(3)|central_nervous_system(3)|liver(1)|lung(1)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	16	Ovarian(185;0.0634)	all_cancers(23;5.36e-32)|all_epithelial(116;2.32e-17)|all_neural(13;3.68e-06)|all_lung(118;3.94e-06)|all_hematologic(16;2.39e-05)|Lung NSC(185;5.33e-05)|Acute lymphoblastic leukemia(12;0.000372)|Glioma(11;0.00127)|Renal(390;0.00188)|Colorectal(325;0.00342)|Breast(487;0.00373)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.15)		Epithelial(90;3.08e-37)|GBM - Glioblastoma multiforme(13;1.36e-31)|OV - Ovarian serous cystadenocarcinoma(86;7.7e-19)|Colorectal(212;9.97e-08)|COAD - Colon adenocarcinoma(227;1.07e-05)|Kidney(185;6.16e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00109)|BRCA - Breast invasive adenocarcinoma(365;0.0012)|STAD - Stomach adenocarcinoma(132;0.00346)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.193)		TCTCAAACTCGCGTTCCCAGT	0.607													A	6202326	G	A	6202326	2	1	592	1	0	0	0	0	0	0	0	1	3358	1074	38	1		1	CHD5	1	6202326	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3661090	6202326	243048295	2	49240											
ICMT	23463	broad.mit.edu	37	chr1	6285295	6285295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtcagggcatagctgaCgccgcagatggggttacaca	10	7	13	11	2	1	2	1	1	0	1	1	2	1	2	1	3	2	4	1	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6285295C>T	ENST00000343813.5	-	5	728	c.700G>A	c.(700-702)Gtc>Atc	p.V234I		NM_012405.3	NP_036537.1	O60725	ICMT_HUMAN	isoprenylcysteine carboxyl methyltransferase	234					protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein C-terminal S-isoprenylcysteine carboxyl O-methyltransferase activity			NS(1)|endometrium(2)	3	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;2.4e-22)|all_lung(118;2.65e-08)|Lung NSC(185;6.45e-07)|all_neural(13;3.18e-06)|all_hematologic(16;8.99e-06)|Acute lymphoblastic leukemia(12;0.000365)|Breast(487;0.000688)|Renal(390;0.0007)|Colorectal(325;0.00104)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)|Medulloblastoma(700;0.211)		Epithelial(90;5.52e-38)|GBM - Glioblastoma multiforme(13;6.51e-32)|OV - Ovarian serous cystadenocarcinoma(86;3.03e-19)|Colorectal(212;7.08e-08)|COAD - Colon adenocarcinoma(227;8.35e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(365;0.00109)|STAD - Stomach adenocarcinoma(132;0.00313)|READ - Rectum adenocarcinoma(331;0.0642)|Lung(427;0.182)		GCATAGCTGACGCCGCAGATG	0.517													T	6285295	C	T	6285295	3	4	592	1	0	0	0	0	1	0	0	0	7543	536	19	1	158	1	ICMT	1	6285295	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	82969	6285295	242965326	3	49241											
ZBTB48	3104	broad.mit.edu	37	chr1	6647351	6647354	+	Splice_Site	DEL	AGTA	AGTA	-																															ggagcccccaagccccatgcAgtaagtgacagggagggctg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6647351_6647354delAGTA	ENST00000377674.4	+	6	1382	c.1224delAGTA	c.(1222-1224)gca>gc	p.A408fs		NM_001278647.1|NM_001278648.1|NM_005341.2	NP_001265576.1|NP_001265577.1|NP_005332.1	P10074	ZBT48_HUMAN	zinc finger and BTB domain containing 48	408						cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	11	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;7.39e-28)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;1.35e-07)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00109)|STAD - Stomach adenocarcinoma(132;0.017)|READ - Rectum adenocarcinoma(331;0.0642)		AGCCCCATGCAGTAAGTGACAGGG	0.564													-	6647354	AGTA	-	6647351	8	5	592	1	0	1	0	1	0	0	1	0	17650	202	7	0	1242	0	ZBTB48	1	6647351	Splice_Site	DEL	AGTA	TCGA-HT-8564-01A-11D-2395-08	362056	6647351	242603270	4	49242											
PHF13	148479	broad.mit.edu	37	chr1	6680127	6680128	+	Frame_Shift_Ins	INS	-	-	G																															gcctgggaaagaggggtacaINSgggggggcttgctgaagctg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6680127_6680128insG	ENST00000377648.4	+	3	788_789	c.406_407insG	c.(406-408)aggfs	p.R136fs	PHF13_ENST00000495385.1_Intron	NM_153812.2	NP_722519.2	Q86YI8	PHF13_HUMAN	PHD finger protein 13	136					cell division|chromatin modification|mitotic chromosome condensation	nucleoplasm	chromatin binding|methylated histone residue binding|zinc ion binding			endometrium(3)|large_intestine(1)|lung(3)	7	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;1.46e-33)|all_epithelial(116;9.26e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Breast(487;0.000353)|Renal(390;0.0007)|Colorectal(325;0.00104)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.19e-07)|COAD - Colon adenocarcinoma(227;1.3e-05)|Kidney(185;4.88e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000501)|KIRC - Kidney renal clear cell carcinoma(229;0.000871)|STAD - Stomach adenocarcinoma(132;0.0165)|READ - Rectum adenocarcinoma(331;0.0642)		AGAGGGGTACAGGGGGGGCTTG	0.604													G	6680128	-	G	6680127	7	5	592	1	0	1	1	0	0	0	0	0	11901	179	7	0	416	0	PHF13	1	6680127	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	32776	6680127	242570494	5	49243											
DNAJC11	55735	broad.mit.edu	37	chr1	6697342	6697342	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaatcaccttcaccttctcGctcttcctgctcttgtcatt	5	17	3	16	1	7	0	4	0	3	0	9	0	8	0	3	0	1	2	3	0	1	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:6697342G>A	ENST00000377577.5	-	14	1563	c.1440C>T	c.(1438-1440)agC>agT	p.S480S	DNAJC11_ENST00000294401.7_Silent_p.S428S|DNAJC11_ENST00000465508.1_5'UTR|DNAJC11_ENST00000349363.6_Intron|DNAJC11_ENST00000542246.1_Silent_p.S442S|DNAJC11_ENST00000377573.5_Silent_p.S390S	NM_018198.3	NP_060668.2	Q9NVH1	DJC11_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 11	480					protein folding		heat shock protein binding|unfolded protein binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)|urinary_tract(1)	32	Ovarian(185;0.0265)|all_lung(157;0.154)	all_cancers(23;1.97e-27)|all_epithelial(116;1.76e-17)|all_lung(118;2.27e-05)|Lung NSC(185;9.97e-05)|Renal(390;0.00188)|Breast(487;0.00289)|Colorectal(325;0.00342)|Hepatocellular(190;0.0218)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.156)		Colorectal(212;2.34e-07)|COAD - Colon adenocarcinoma(227;2.05e-05)|Kidney(185;7.67e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000639)|KIRC - Kidney renal clear cell carcinoma(229;0.00128)|STAD - Stomach adenocarcinoma(132;0.00179)|READ - Rectum adenocarcinoma(331;0.0649)		TCACCTTCTCGCTCTTCCTGC	0.567													A	6697342	G	A	6697342	2	1	592	1	0	0	0	0	0	0	0	1	4669	1078	38	1		1	DNAJC11	1	6697342	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17215	6697342	242553279	6	49244											
RERE	473	broad.mit.edu	37	chr1	8674675	8674675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggctgtgatgccaccGgcagagagcatgctgggggg	6	7	20	8	1	0	2	0	1	0	1	0	3	0	2	2	6	3	4	2	6	0	0	rs142313428		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:8674675G>A	ENST00000337907.3	-	5	1101	c.467C>T	c.(466-468)cCg>cTg	p.P156L	RERE_ENST00000400907.2_Missense_Mutation_p.P156L|RERE_ENST00000400908.2_Missense_Mutation_p.P156L	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	156	BAH.				multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGATGCCACCGGCAGAGAGCA	0.488													A	8674675	G	A	8674675	3	1	592	1	0	0	0	0	1	0	0	0	13319	1116	39	1	4313	1	RERE	1	8674675	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1977333	8674675	240575946	7	49245											
DNAJC16	23341	broad.mit.edu	37	chr1	15874846	15874846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggaagagatgacaaggCggtacaacatcaatatctac	16	6	11	8	2	2	2	1	1	1	1	2	5	2	4	0	4	3	1	0	4	7	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:15874846C>T	ENST00000375847.3	+	7	1110	c.946C>T	c.(946-948)Cgg>Tgg	p.R316W	DNAJC16_ENST00000375849.1_Missense_Mutation_p.R316W|DNAJC16_ENST00000375838.1_Missense_Mutation_p.R316W	NM_015291.2	NP_056106.1	Q9Y2G8	DJC16_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 16	316					cell redox homeostasis|protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(7)|urinary_tract(1)	18		Colorectal(325;0.00108)|Renal(390;0.00145)|Breast(348;0.00173)|all_lung(284;0.00459)|Lung NSC(340;0.00499)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0798)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;9.18e-07)|COAD - Colon adenocarcinoma(227;4.5e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000133)|KIRC - Kidney renal clear cell carcinoma(229;0.00262)|STAD - Stomach adenocarcinoma(313;0.00774)|READ - Rectum adenocarcinoma(331;0.0657)		GATGACAAGGCGGTACAACAT	0.428													T	15874846	C	T	15874846	3	4	592	1	0	0	0	0	1	0	0	0	4674	759	27	1	968	1	DNAJC16	1	15874846	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7200171	15874846	233375775	8	49246											
SPEN	23013	broad.mit.edu	37	chr1	16202978	16202978	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatattacccgggaggtacGaggcagaaggccagagcgga	12	5	16	8	3	0	3	0	1	0	2	0	6	0	5	2	5	3	2	2	5	4	3	rs139125517		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:16202978G>A	ENST00000375759.3	+	3	890	c.686G>A	c.(685-687)cGa>cAa	p.R229Q	SPEN_ENST00000471538.1_3'UTR	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	229	Arg-rich.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		CGGGAGGTACGAGGCAGAAGG	0.542													A	16202978	G	A	16202978	3	1	592	1	0	0	0	0	1	0	0	0	15134	1058	37	1	696	1	SPEN	1	16202978	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	328132	16202978	233047643	9	49247											
UBR4	23352	broad.mit.edu	37	chr1	19501461	19501461	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctagtaccacagaatcaagtCggttcaaatcatcctctgag	13	10	7	11	1	4	2	3	1	1	1	6	2	5	2	2	1	1	2	2	1	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:19501461C>T	ENST00000375267.2	-	21	2843	c.2840G>A	c.(2839-2841)cGa>cAa	p.R947Q	UBR4_ENST00000375217.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375226.2_Missense_Mutation_p.R947Q|UBR4_ENST00000375254.3_Missense_Mutation_p.R947Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	947					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		AGAATCAAGTCGGTTCAAATC	0.438													T	19501461	C	T	19501461	3	4	592	1	0	0	0	0	1	0	0	0	17006	884	31	1	13055	1	UBR4	1	19501461	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3298483	19501461	229749160	10	49248											
HSPG2	3339	broad.mit.edu	37	chr1	22166340	22166340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagcagcgcaaggtggcCgtgtgtccagcctccacagt	7	7	14	13	2	0	1	0	1	0	0	2	1	2	1	4	2	3	3	4	2	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22166340C>T	ENST00000374695.3	-	72	9763	c.9684G>A	c.(9682-9684)acG>acA	p.T3228T		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3228	Ig-like C2-type 18.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCAAGGTGGCCGTGTGTCCAG	0.627													T	22166340	C	T	22166340	2	4	592	1	0	0	0	0	0	0	0	1	7488	639	23	1		1	HSPG2	1	22166340	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2664879	22166340	227084281	11	49249											
HSPG2	3339	broad.mit.edu	37	chr1	22168798	22168798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgctcagggcctgggcCgctggctgcacgacacacat	6	9	12	14	2	2	0	1	0	1	0	2	1	2	0	2	3	2	4	2	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:22168798C>T	ENST00000374695.3	-	68	9065	c.8986G>A	c.(8986-8988)Ggc>Agc	p.G2996S		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2996	Ig-like C2-type 15.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GGGCCTGGGCCGCTGGCTGCA	0.642													T	22168798	C	T	22168798	3	4	592	1	0	0	0	0	1	0	0	0	7488	652	23	1	4309	1	HSPG2	1	22168798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2458	22168798	227081823	12	49250											
KDM1A	23028	broad.mit.edu	37	chr1	23405541	23405541	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaacctttatttataaatgCgacgcagttctctgtaccct	11	14	5	11	2	1	0	0	0	1	0	2	1	1	0	2	0	3	3	2	0	6	7	rs145299191		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23405541C>T	ENST00000400181.4	+	17	2030	c.1926C>T	c.(1924-1926)tgC>tgT	p.C642C	RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Silent_p.C642C|KDM1A_ENST00000356634.3_Silent_p.C618C	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	618	Demethylase activity.				blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TTTATAAATGCGACGCAGTTC	0.507													T	23405541	C	T	23405541	2	4	592	1	0	0	0	0	0	0	0	1	8180	776	27	1		1	KDM1A	1	23405541	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1236743	23405541	225845080	13	49251											
HTR1D	3352	broad.mit.edu	37	chr1	23519885	23519885	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaagcttgattttcacGtggttgaaaaagagagggga	13	10	13	5	1	2	3	2	2	0	1	2	5	2	4	0	3	2	3	0	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:23519885G>A	ENST00000374619.1	-	1	1337	c.828C>T	c.(826-828)caC>caT	p.H276H	HTR1D_ENST00000314113.3_Silent_p.H276H	NM_000864.4	NP_000855.1	P28221	5HT1D_HUMAN	5-hydroxytryptamine (serotonin) receptor 1D, G protein-coupled	276					G-protein signaling, coupled to cyclic nucleotide second messenger|intestine smooth muscle contraction|synaptic transmission	integral to plasma membrane	serotonin receptor activity			NS(1)|large_intestine(3)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.000734)|Lung NSC(340;0.000779)|all_lung(284;0.00135)|Breast(348;0.0385)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0561)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;4.69e-27)|Colorectal(126;4.86e-08)|COAD - Colon adenocarcinoma(152;2.86e-06)|GBM - Glioblastoma multiforme(114;0.00012)|BRCA - Breast invasive adenocarcinoma(304;0.000949)|KIRC - Kidney renal clear cell carcinoma(1967;0.00122)|STAD - Stomach adenocarcinoma(196;0.0123)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.083)|LUSC - Lung squamous cell carcinoma(448;0.185)	Almotriptan(DB00918)|Dihydroergotamine(DB00320)|Eletriptan(DB00216)|Ergotamine(DB00696)|Frovatriptan(DB00998)|Naratriptan(DB00952)|Rizatriptan(DB00953)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TGATTTTCACGTGGTTGAAAA	0.567													A	23519885	G	A	23519885	2	1	592	1	0	0	0	0	0	0	0	1	7496	1136	40	1		1	HTR1D	1	23519885	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	114344	23519885	225730736	14	49252											
CLIC4	25932	broad.mit.edu	37	chr1	25167273	25167273	+	Frame_Shift_Del	DEL	A	A	-																															ttgtatttcaggtggtggccAaaaaatatcgcaactttgat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:25167273delA	ENST00000374379.4	+	6	804	c.607delA	c.(607-609)aaafs	p.K204fs		NM_013943.2	NP_039234.1	Q9Y696	CLIC4_HUMAN	chloride intracellular channel 4	204	GST C-terminal.				cellular response to calcium ion|establishment or maintenance of apical/basal cell polarity|keratinocyte differentiation|negative regulation of cell migration|regulation of cytoskeleton organization	actin cytoskeleton|apical part of cell|cell surface|cell-cell junction|centrosome|chloride channel complex|cytoplasmic vesicle membrane|cytosol|microvillus|midbody|mitochondrion|nuclear matrix|perinuclear region of cytoplasm|soluble fraction	voltage-gated chloride channel activity			large_intestine(3)|lung(2)|skin(1)	6		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000778)|all_lung(284;0.00106)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0479)|OV - Ovarian serous cystadenocarcinoma(117;1.06e-24)|Colorectal(126;1.03e-07)|COAD - Colon adenocarcinoma(152;4.93e-06)|STAD - Stomach adenocarcinoma(196;0.000418)|GBM - Glioblastoma multiforme(114;0.000451)|BRCA - Breast invasive adenocarcinoma(304;0.00215)|KIRC - Kidney renal clear cell carcinoma(1967;0.00216)|READ - Rectum adenocarcinoma(331;0.0693)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.18)		GGTGGTGGCCAAAAAATATCG	0.373													-	25167273	A	-	25167273	7	5	592	1	0	1	0	1	0	0	0	0	3559	131	5	0	629	0	CLIC4	1	25167273	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	1647388	25167273	224083348	15	49253											
EXTL1	2134	broad.mit.edu	37	chr1	26349416	26349416	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctcaaagtgcaggggCgatggccttaaggtattcgt	10	10	13	8	2	1	0	1	0	0	0	2	2	1	0	2	4	2	2	2	4	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26349416C>T	ENST00000374280.3	+	1	1146	c.279C>T	c.(277-279)ggC>ggT	p.G93G		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	93					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGTGCAGGGGCGATGGCCTTA	0.542													T	26349416	C	T	26349416	2	4	592	1	0	0	0	0	0	0	0	1	5367	755	27	1		1	EXTL1	1	26349416	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1182143	26349416	222901205	16	49254											
TRIM63	84676	broad.mit.edu	37	chr1	26387782	26387782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgttgattttctcatcttCgtgctccttgcacatggggt	5	17	10	9	1	2	1	1	1	2	0	5	2	3	1	1	2	2	3	1	2	0	5	rs139426966		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:26387782C>T	ENST00000374272.3	-	3	514	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K	TRIM63_ENST00000483052.1_5'UTR	NM_032588.3	NP_115977.2	Q969Q1	TRI63_HUMAN	tripartite motif containing 63, E3 ubiquitin protein ligase	126	Interaction with TTN.					cytoplasm|microtubule|nucleus	ligase activity|signal transducer activity|titin binding|zinc ion binding			kidney(1)|large_intestine(1)|ovary(1)|skin(1)|stomach(1)	5		Colorectal(325;3.46e-05)|Lung NSC(340;0.000154)|all_lung(284;0.00021)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;9.15e-26)|Colorectal(126;3.16e-08)|COAD - Colon adenocarcinoma(152;1.72e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000767)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)		TTCTCATCTTCGTGCTCCTTG	0.582													T	26387782	C	T	26387782	3	4	592	1	0	0	0	0	1	0	0	0	16639	893	31	1	713	1	TRIM63	1	26387782	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	38366	26387782	222862839	17	49255											
ARID1A	8289	broad.mit.edu	37	chr1	27088659	27088659	+	Frame_Shift_Del	DEL	C	C	-																															ataggttatatgcagaggaaCccccagatgccccagtacag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:27088659delC	ENST00000324856.7	+	7	2639	c.2268delC	c.(2266-2268)aacfs	p.N756fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.N756fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.N373fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	756					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGCAGAGGAACCCCCAGATGC	0.512			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27088659	C	-	27088659	7	5	592	1	0	1	0	1	0	0	0	0	916	506	18	0	2294	0	ARID1A	1	27088659	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	700877	27088659	222161962	18	49256											
PHC2	1912	broad.mit.edu	37	chr1	33837953	33837953	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctggagcgccgcGgtctgcagcatgaggtgctg	4	9	17	11	3	1	1	0	1	1	0	1	2	1	2	1	3	7	6	1	3	0	0	rs145356735		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:33837953G>A	ENST00000257118.5	-	2	323	c.270C>T	c.(268-270)acC>acT	p.T90T	PHC2_ENST00000419414.2_Silent_p.T90T|PHC2_ENST00000373416.1_5'UTR|PHC2_ENST00000431992.1_Silent_p.T90T	NM_198040.2	NP_932157.1	Q8IXK0	PHC2_HUMAN	polyhomeotic homolog 2 (Drosophila)	90	Gln-rich.				multicellular organismal development	PcG protein complex	DNA binding|identical protein binding|zinc ion binding			autonomic_ganglia(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				GGAGCGCCGCGGTCTGCAGCA	0.667													A	33837953	G	A	33837953	2	1	592	1	0	0	0	0	0	0	0	1	11894	1103	39	1		1	PHC2	1	33837953	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6749294	33837953	215412668	19	49257											
CSMD2	114784	broad.mit.edu	37	chr1	34180250	34180250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccaggcacgtgatgcgggCggtgccctccagacggtacc	6	5	14	16	4	0	2	0	1	0	1	1	2	1	2	5	4	3	2	5	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:34180250C>T	ENST00000373381.4	-	21	3519	c.3343G>A	c.(3343-3345)Gcc>Acc	p.A1115T		NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	1075	CUB 7.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				GTGATGCGGGCGGTGCCCTCC	0.632													T	34180250	C	T	34180250	3	4	592	1	0	0	0	0	1	0	0	0	3978	768	27	1	7436	1	CSMD2	1	34180250	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342297	34180250	215070371	20	49258											
DLGAP3	58512	broad.mit.edu	37	chr1	35365314	35365314	+	Frame_Shift_Del	DEL	G	G	-																															gtagccagggatggagctccGggggtggatccggggtggga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:35365314delG	ENST00000373347.1	-	5	1610	c.1342delC	c.(1342-1344)cggfs	p.R448fs	DLGAP3_ENST00000235180.4_Frame_Shift_Del_p.R448fs			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	448					cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				ATGGAGCTCCGGGGGTGGATC	0.577													-	35365314	G	-	35365314	7	5	592	1	0	1	0	1	0	0	0	0	4600	1115	39	0	1629	0	DLGAP3	1	35365314	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	1185064	35365314	213885307	21	49259											
ZNF691	51058	broad.mit.edu	37	chr1	43317024	43317024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaccgcatccggcacgagcGgatccacctggaagagaaac	13	3	11	14	4	0	1	0	0	0	1	2	5	2	3	4	3	3	2	4	3	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43317024G>A	ENST00000372504.1	+	5	811	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ZNF691_ENST00000372507.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000372508.3_Missense_Mutation_p.R132Q|ZNF691_ENST00000372506.1_Missense_Mutation_p.R132Q|ZNF691_ENST00000397044.3_Missense_Mutation_p.R163Q|ZNF691_ENST00000372502.1_Missense_Mutation_p.R154Q			Q5VV52	ZN691_HUMAN	zinc finger protein 691	163						nucleus	DNA binding|zinc ion binding			large_intestine(2)|lung(2)|ovary(2)|prostate(1)	7	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CGGCACGAGCGGATCCACCTG	0.562													A	43317024	G	A	43317024	3	1	592	1	0	0	0	0	1	0	0	0	18197	1116	39	1	397	1	ZNF691	1	43317024	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7951710	43317024	205933597	22	49260											
TIE1	7075	broad.mit.edu	37	chr1	43779639	43779639	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcacctaccagtcaggctcGgtcagtgacccgccccgccc	6	7	9	19	3	3	1	3	1	0	0	4	1	3	1	6	2	1	1	6	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:43779639G>A	ENST00000372476.3	+	14	2488	c.2409G>A	c.(2407-2409)tcG>tcA	p.S803S	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Splice_Site_p.S448S	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	803					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				AGTCAGGCTCGGTCAGTGACC	0.577													A	43779639	G	A	43779639	5	1	592	1	0	0	0	0	0	0	1	0	15993	1130	39	1	2463	1	TIE1	1	43779639	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	462615	43779639	205470982	23	49261											
PTPRF	5792	broad.mit.edu	37	chr1	44056971	44056971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgcaggcacgcatgctgagCgccagcaccatgctggtgca	8	6	14	13	2	0	1	0	1	0	0	0	1	0	1	2	2	6	7	2	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:44056971C>T	ENST00000359947.4	+	9	1618	c.1278C>T	c.(1276-1278)agC>agT	p.S426S	PTPRF_ENST00000372414.3_Silent_p.S426S|PTPRF_ENST00000438120.1_Silent_p.S426S|PTPRF_ENST00000372413.3_Silent_p.S426S	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	426	Fibronectin type-III 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCATGCTGAGCGCCAGCACCA	0.726													T	44056971	C	T	44056971	2	4	592	1	0	0	0	0	0	0	0	1	12889	767	27	1		1	PTPRF	1	44056971	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	277332	44056971	205193650	24	49262											
RNF220	55182	broad.mit.edu	37	chr1	45110396	45110397	+	Frame_Shift_Del	DEL	AA	AA	-																															gcttcatcatgtgcagcggcAaagagaacccggacagtgat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:45110396_45110397delAA	ENST00000355387.2	+	9	1603_1604	c.1153_1154delAA	c.(1153-1155)aaafs	p.K385fs	RNF220_ENST00000361799.2_Frame_Shift_Del_p.K385fs|TMEM53_ENST00000372242.3_Intron|RNF220_ENST00000480686.1_3'UTR|RNF220_ENST00000372247.2_Frame_Shift_Del_p.K385fs|TMEM53_ENST00000372244.3_Intron|RNF220_ENST00000443020.2_Frame_Shift_Del_p.K172fs|TMEM53_ENST00000372243.3_Intron			Q5VTB9	RN220_HUMAN	ring finger protein 220	385					protein autoubiquitination	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			endometrium(6)|kidney(1)|large_intestine(3)|lung(13)|ovary(2)|skin(2)|urinary_tract(2)	29						GTGCAGCGGCAAAGAGAACCCG	0.599													-	45110397	AA	-	45110396	7	5	592	1	0	1	0	1	0	0	0	0	13574	131	5	0	1183	0	RNF220	1	45110396	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1053425	45110396	204140225	25	49263											
RAD54L	8438	broad.mit.edu	37	chr1	46739410	46739410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctttgagaagctgtgccGtgcccgaaggtagggaagat	9	10	14	8	2	1	2	0	1	1	2	2	5	1	3	2	2	3	2	2	2	4	2	rs144207599	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:46739410G>A	ENST00000371975.4	+	14	2275	c.1601G>A	c.(1600-1602)cGt>cAt	p.R534H	RAD54L_ENST00000442598.1_Missense_Mutation_p.R534H	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	534	Helicase C-terminal.		R -> C (in dbSNP:rs28363240).		meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AAGCTGTGCCGTGCCCGAAGG	0.512								Direct reversal of damage;Homologous recombination					A	46739410	G	A	46739410	3	1	592	1	0	0	0	0	1	0	0	0	13081	1145	40	1	1655	1	RAD54L	1	46739410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1629014	46739410	202511211	26	49264											
DMRTB1	63948	broad.mit.edu	37	chr1	53925205	53925205	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgcccgtcaagggacacGcgggcaaatgccgctggaag	9	5	16	11	4	1	0	1	0	0	0	1	2	1	2	2	4	2	2	2	4	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:53925205G>A	ENST00000371445.3	+	1	134	c.79G>A	c.(79-81)Gcg>Acg	p.A27T		NM_033067.1	NP_149056.1	Q96MA1	DMRTB_HUMAN	DMRT-like family B with proline-rich C-terminal, 1	27					sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			large_intestine(3)|lung(5)|ovary(1)|skin(1)	10						CAAGGGACACGCGGGCAAATG	0.612													A	53925205	G	A	53925205	3	1	592	1	0	0	0	0	1	0	0	0	4629	1087	38	1	81	1	DMRTB1	1	53925205	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7185795	53925205	195325416	27	49265											
DHCR24	1718	broad.mit.edu	37	chr1	55337128	55337128	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcctgccgctgggactcGtgggtgaacttggcacagat	6	11	13	11	2	1	2	0	1	1	1	3	3	1	3	2	3	2	2	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:55337128G>A	ENST00000371269.3	-	5	869	c.771C>T	c.(769-771)caC>caT	p.H257H	DHCR24_ENST00000537443.1_Silent_p.H89H|DHCR24_ENST00000535035.1_Silent_p.H216H	NM_014762.3	NP_055577.1	Q15392	DHC24_HUMAN	24-dehydrocholesterol reductase	257					anti-apoptosis|apoptosis|cell cycle arrest|cholesterol biosynthetic process|negative regulation of caspase activity|neuroprotection|response to oxidative stress|skin development	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nucleus	delta24-sterol reductase activity|enzyme binding|flavin adenine dinucleotide binding|peptide antigen binding			large_intestine(2)|liver(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)	7						GCTGGGACTCGTGGGTGAACT	0.592													A	55337128	G	A	55337128	2	1	592	1	0	0	0	0	0	0	0	1	4515	1136	40	1		1	DHCR24	1	55337128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1411923	55337128	193913493	28	49266											
FAM73A	374986	broad.mit.edu	37	chr1	78280851	78280851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgcaaagagcctatcGtctccaagaggagtttgaag	11	10	11	9	1	2	3	0	1	2	2	4	4	2	4	2	1	3	3	2	1	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:78280851G>A	ENST00000370791.3	+	7	862	c.830G>A	c.(829-831)cGt>cAt	p.R277H	FAM73A_ENST00000443751.2_Missense_Mutation_p.R239H	NM_001270384.1|NM_198549.3	NP_001257313.1|NP_940951.1	Q8NAN2	FA73A_HUMAN	family with sequence similarity 73, member A	277						integral to membrane				breast(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	19				Colorectal(170;0.226)		AGAGCCTATCGTCTCCAAGAG	0.368													A	78280851	G	A	78280851	3	1	592	1	0	0	0	0	1	0	0	0	5667	1145	40	1	856	1	FAM73A	1	78280851	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	22943723	78280851	170969770	29	49267											
LPHN2	23266	broad.mit.edu	37	chr1	82372829	82372829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgctaactatggtcggacGgatgacaagatttgtgatgc	11	10	13	7	3	0	3	0	2	0	1	1	5	0	5	0	3	3	1	0	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:82372829G>A	ENST00000370728.1	+	6	846	c.201G>A	c.(199-201)acG>acA	p.T67T	LPHN2_ENST00000370730.1_Silent_p.T67T|LPHN2_ENST00000370727.1_Silent_p.T67T|LPHN2_ENST00000370725.1_Silent_p.T67T|LPHN2_ENST00000359929.3_Silent_p.T67T|LPHN2_ENST00000319517.6_Silent_p.T67T|LPHN2_ENST00000370715.1_Silent_p.T67T|LPHN2_ENST00000335786.5_Silent_p.T67T|LPHN2_ENST00000370713.1_Silent_p.T67T|LPHN2_ENST00000370717.2_Silent_p.T67T|LPHN2_ENST00000370721.1_Silent_p.T67T|LPHN2_ENST00000394879.1_Silent_p.T67T|LPHN2_ENST00000370723.1_Silent_p.T67T|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Silent_p.T67T			O95490	LPHN2_HUMAN	latrophilin 2	67	SUEL-type lectin.				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ATGGTCGGACGGATGACAAGA	0.453													A	82372829	G	A	82372829	2	1	592	1	0	0	0	0	0	0	0	1	8986	1103	39	1		1	LPHN2	1	82372829	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4091978	82372829	166877792	30	49268											
LPAR3	23566	broad.mit.edu	37	chr1	85331490	85331490	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgtccagaagcccctgaCggagaaaccagcggttgaca	12	6	11	12	2	0	4	0	2	0	2	1	5	1	4	4	2	4	1	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:85331490C>T	ENST00000440886.1	-	1	352	c.314G>A	c.(313-315)cGt>cAt	p.R105H	LPAR3_ENST00000370611.3_Missense_Mutation_p.R105H|LPAR3_ENST00000491034.1_5'UTR			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	105					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						AAGCCCCTGACGGAGAAACCA	0.502													T	85331490	C	T	85331490	3	4	592	1	0	0	0	0	1	0	0	0	8976	536	19	1	755	1	LPAR3	1	85331490	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2958661	85331490	163919131	31	49269											
ZNF644	84146	broad.mit.edu	37	chr1	91382483	91382483	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attagcgtttacaatatgtcGttgtaagtgcttaatccagt	11	16	8	6	2	0	0	0	0	0	0	2	0	1	0	1	0	3	4	1	0	6	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:91382483G>A	ENST00000370440.1	-	6	4073	c.3856C>T	c.(3856-3858)Cga>Tga	p.R1286*	ZNF644_ENST00000467231.1_5'UTR|ZNF644_ENST00000337393.5_Nonsense_Mutation_p.R1286*|ZNF644_ENST00000361321.5_Nonsense_Mutation_p.R64*|ZNF644_ENST00000347275.5_Nonsense_Mutation_p.R64*			Q9H582	ZN644_HUMAN	zinc finger protein 644	1286					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		ACAATATGTCGTTGTAAGTGC	0.423													A	91382483	G	A	91382483	4	1	592	1	0	0	0	0	0	1	0	0	18161	1153	40	1	131	1	ZNF644	1	91382483	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6050993	91382483	157868138	32	49270											
ABCA4	24	broad.mit.edu	37	chr1	94512531	94512531	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgcggtgatctggttctcGtagaaggtgatgttcagacg	9	12	14	6	3	3	4	1	2	2	2	4	4	3	4	0	3	1	3	0	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94512531G>A	ENST00000370225.3	-	19	2948	c.2862C>T	c.(2860-2862)taC>taT	p.Y954Y	ABCA4_ENST00000535735.1_Silent_p.Y880Y	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	954	ABC transporter 1.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCTGGTTCTCGTAGAAGGTGA	0.552													A	94512531	G	A	94512531	2	1	592	1	0	0	0	0	0	0	0	1	34	1140	40	1		1	ABCA4	1	94512531	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3130048	94512531	154738090	33	49271											
ABCA4	24	broad.mit.edu	37	chr1	94574157	94574157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattctctccgggtgagtccGgagggtgtccatgaattggg	7	11	15	8	2	1	2	0	2	1	0	5	3	4	3	3	4	0	0	3	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:94574157G>A	ENST00000370225.3	-	4	504	c.418C>T	c.(418-420)Cgg>Tgg	p.R140W	ABCA4_ENST00000535735.1_Missense_Mutation_p.R140W	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	140					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		GGGTGAGTCCGGAGGGTGTCC	0.493													A	94574157	G	A	94574157	3	1	592	1	0	0	0	0	1	0	0	0	34	1115	39	1	6591	1	ABCA4	1	94574157	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	61626	94574157	154676464	34	49272											
ALG14	199857	broad.mit.edu	37	chr1	95492780	95492780	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaggactgctgaacctcccGgcttcttggaattcggtgaa	8	10	11	12	2	1	2	0	2	1	0	3	4	2	4	3	4	2	2	3	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:95492780G>A	ENST00000370205.5	-	3	371	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W		NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit						dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		TGAACCTCCCGGCTTCTTGGA	0.453													A	95492780	G	A	95492780	3	1	592	1	0	0	0	0	1	0	0	0	516	1115	39	1	333	1	ALG14	1	95492780	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	918623	95492780	153757841	35	49273											
DBT	1629	broad.mit.edu	37	chr1	100684291	100684293	+	In_Frame_Del	DEL	TCT	TCT	-																															ctgcaggagtttcaacaacaTcttcttctgaatctggtaac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:100684291_100684293delTCT	ENST00000370132.4	-	5	457_459	c.444_446delAGA	c.(442-447)gaagat>gat	p.E148del	DBT_ENST00000370131.3_In_Frame_Del_p.E148del	NM_001918.3	NP_001909.3	P11182	ODB2_HUMAN	dihydrolipoamide branched chain transacylase E2						branched chain family amino acid catabolic process|fatty-acyl-CoA biosynthetic process	microtubule cytoskeleton|mitochondrial alpha-ketoglutarate dehydrogenase complex|mitochondrial nucleoid	acyltransferase activity|cofactor binding|dihydrolipoyllysine-residue (2-methylpropanoyl)transferase activity|protein binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(1)	19		all_epithelial(167;5.4e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0739)|all cancers(265;0.123)|COAD - Colon adenocarcinoma(174;0.154)|Lung(183;0.199)		TTCAACAACATCTTCTTCTGAAT	0.384													-	100684293	TCT	-	100684291	7	5	592	1	0	1	0	1	0	0	0	0	4292	1435	50	0	1030	0	DBT	1	100684291	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	5191511	100684291	148566330	36	49274											
CELSR2	1952	broad.mit.edu	37	chr1	109801232	109801232	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacgccaccggaccaCgtggtggtcttcaacgtaca	8	7	11	15	4	2	0	1	0	1	0	2	1	2	1	4	4	2	1	4	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:109801232C>T	ENST00000271332.3	+	2	3550	c.3489C>T	c.(3487-3489)caC>caT	p.H1163H		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1163					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CACCGGACCACGTGGTGGTCT	0.716													T	109801232	C	T	109801232	2	4	592	1	0	0	0	0	0	0	0	1	3252	535	19	1		1	CELSR2	1	109801232	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9116941	109801232	139449389	37	49275											
CHIA	27159	broad.mit.edu	37	chr1	111857960	111857960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtcatcaaattcctgcGccagtatgagtttgacgggc	9	11	10	11	2	3	2	3	2	0	0	4	2	4	2	2	1	1	2	2	1	2	3	rs140031055		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:111857960G>A	ENST00000369740.1	+	6	486	c.383G>A	c.(382-384)cGc>cAc	p.R128H	CHIA_ENST00000353665.6_Intron|CHIA_ENST00000343320.6_Missense_Mutation_p.R128H|CHIA_ENST00000451398.2_5'UTR|CHIA_ENST00000483391.1_Intron|CHIA_ENST00000430615.1_Missense_Mutation_p.R20H	NM_001258001.1|NM_201653.3	NP_001244930.1|NP_970615.2	Q9BZP6	CHIA_HUMAN	chitinase, acidic	128					apoptosis|cell wall chitin metabolic process|chitin catabolic process|digestion|immune response|positive regulation of chemokine secretion|production of molecular mediator involved in inflammatory response|response to acid|response to fungus	cytoplasm|extracellular space	cation binding|chitin binding|chitinase activity|kinase binding|lysozyme activity|sugar binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	23		all_cancers(81;3.23e-05)|all_epithelial(167;1.2e-05)|all_lung(203;0.000154)|Lung NSC(277;0.000304)		Colorectal(144;0.0115)|Lung(183;0.0292)|COAD - Colon adenocarcinoma(174;0.0314)|all cancers(265;0.0477)|Epithelial(280;0.0918)|LUSC - Lung squamous cell carcinoma(189;0.154)		AAATTCCTGCGCCAGTATGAG	0.547													A	111857960	G	A	111857960	3	1	592	1	0	0	0	0	1	0	0	0	3372	1087	38	1	401	1	CHIA	1	111857960	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2056728	111857960	137392661	38	49276											
FAM46C	54855	broad.mit.edu	37	chr1	118166435	118166435	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccttcgcagggtggtgaaCgagagcaccgtgtgtctcat	8	10	13	10	3	1	2	1	1	1	1	4	3	2	2	2	2	2	2	2	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:118166435C>T	ENST00000369448.3	+	2	1192	c.945C>T	c.(943-945)aaC>aaT	p.N315N		NM_017709.3	NP_060179.2	Q5VWP2	FA46C_HUMAN	family with sequence similarity 46, member C	315										endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	15	Lung SC(450;0.225)	all_cancers(81;0.000101)|all_lung(203;3.4e-06)|all_epithelial(167;4.98e-06)|Lung NSC(69;2.33e-05)		Lung(183;0.0576)|LUSC - Lung squamous cell carcinoma(189;0.192)|Colorectal(144;0.247)		GGGTGGTGAACGAGAGCACCG	0.527			"Mis, F, O"		MM					Multiple Myeloma(3;1.13e-06)			T	118166435	C	T	118166435	2	4	592	1	0	0	0	0	0	0	0	1	5618	535	19	1		1	FAM46C	1	118166435	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6308475	118166435	131084186	39	49277											
ITGA10	8515	broad.mit.edu	37	chr1	145534934	145534934	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccctcagctactttggcCgaagtgtggatggtcggcta	7	11	13	10	2	1	0	1	0	0	0	2	2	1	1	2	4	3	2	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:145534934C>T	ENST00000369304.3	+	15	2012	c.1837C>T	c.(1837-1839)Cga>Tga	p.R613*	ITGA10_ENST00000538811.1_Nonsense_Mutation_p.R482*|ITGA10_ENST00000539363.1_Nonsense_Mutation_p.R470*	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	613					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					CTACTTTGGCCGAAGTGTGGA	0.582													T	145534934	C	T	145534934	4	4	592	1	0	0	0	0	0	1	0	0	7931	644	23	1	1895	1	ITGA10	1	145534934	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	27368499	145534934	103715687	40	49278											
ANXA9	8416	broad.mit.edu	37	chr1	150967084	150967084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caattaccaagtcctgattcGcatccttatctctcgatgtg	9	14	6	12	2	1	1	0	1	1	0	6	2	3	1	3	0	1	1	3	0	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:150967084G>A	ENST00000368947.4	+	13	1360	c.884G>A	c.(883-885)cGc>cAc	p.R295H		NM_003568.2	NP_003559.2	O76027	ANXA9_HUMAN	annexin A9	295					cell-cell adhesion	cell surface|cytosol	acetylcholine receptor activity|calcium ion binding|calcium-dependent phospholipid binding|phosphatidylserine binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(4)|skin(2)	8	all_lung(15;1.09e-34)|Lung NSC(24;1.1e-30)|Lung SC(34;0.00202)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTCCTGATTCGCATCCTTATC	0.468													A	150967084	G	A	150967084	3	1	592	1	0	0	0	0	1	0	0	0	727	1087	38	1	926	1	ANXA9	1	150967084	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5432150	150967084	98283537	41	49279											
SEMA6C	10500	broad.mit.edu	37	chr1	151105813	151105813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aactgcggagggagagagggCgcgggagccccggagtctcg	8	3	20	10	5	1	1	0	0	1	1	2	6	1	5	2	5	3	0	2	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151105813C>T	ENST00000341697.3	-	19	3631	c.1940G>A	c.(1939-1941)cGc>cAc	p.R647H				Q9H3T2	SEM6C_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C	647						integral to membrane	receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	28	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			GGAGAGAGGGCGCGGGAGCCC	0.726													T	151105813	C	T	151105813	3	4	592	1	0	0	0	0	1	0	0	0	14134	768	27	1	856	1	SEMA6C	1	151105813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	138729	151105813	98144808	42	49280											
ZNF687	57592	broad.mit.edu	37	chr1	151261051	151261051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaatcgctgcagcttcagCgcccaccagcgcatgcataa	10	6	8	17	3	1	0	1	0	0	0	2	0	1	0	3	0	5	5	3	0	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:151261051C>T	ENST00000368879.2	+	3	2261	c.2163C>T	c.(2161-2163)agC>agT	p.S721S		NM_020832.1	NP_065883.1	Q8N1G0	ZN687_HUMAN	zinc finger protein 687	721					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|upper_aerodigestive_tract(2)	32	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GCAGCTTCAGCGCCCACCAGC	0.572													T	151261051	C	T	151261051	2	4	592	1	0	0	0	0	0	0	0	1	18193	767	27	1		1	ZNF687	1	151261051	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	155238	151261051	97989570	43	49281											
FLG	2312	broad.mit.edu	37	chr1	152282395	152282395	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggaagtctctgcatgaCgagtgcctgattgtctggag	9	10	14	8	1	2	3	0	2	2	1	3	6	2	5	1	2	2	1	1	2	1	1	rs139975241		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152282395C>T	ENST00000368799.1	-	3	5002	c.4967G>A	c.(4966-4968)cGt>cAt	p.R1656H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1656	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCTGCATGACGAGTGCCTGA	0.567									Ichthyosis				T	152282395	C	T	152282395	3	4	592	1	0	0	0	0	1	0	0	0	5971	536	19	1	7222	1	FLG	1	152282395	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1021344	152282395	96968226	44	49282											
LCE1A	353131	broad.mit.edu	37	chr1	152800020	152800020	+	Frame_Shift_Del	DEL	C	C	-																															cccaagtgccctcccaagtgCcccactcctaagtgcccccc																								rs4990424		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:152800020delC	ENST00000335123.2	+	1	72	c.72delC	c.(70-72)tgcfs	p.C24fs		NM_178348.2	NP_848125.1	Q5T7P2	LCE1A_HUMAN	late cornified envelope 1A	24	Cys-rich.				keratinization					endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	8	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ctcccaagtgccccactccta	0.652													-	152800020	C	-	152800020	7	5	592	1	0	1	0	1	0	0	0	0	8718	747	26	0	74	0	LCE1A	1	152800020	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	517625	152800020	96450601	45	49283											
PGLYRP3	114771	broad.mit.edu	37	chr1	153276410	153276410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggctgaatatacctgggcGacaggtgacccttctggatg	8	10	14	9	1	1	2	0	2	1	0	1	4	1	3	2	4	1	1	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:153276410G>A	ENST00000290722.1	-	4	504	c.452C>T	c.(451-453)tCg>tTg	p.S151L		NM_052891.1	NP_443123.1	Q96LB9	PGRP3_HUMAN	peptidoglycan recognition protein 3	151					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(1)|liver(1)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	28	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			ATACCTGGGCGACAGGTGACC	0.552													A	153276410	G	A	153276410	3	1	592	1	0	0	0	0	1	0	0	0	11872	1059	37	1	589	1	PGLYRP3	1	153276410	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476390	153276410	95974211	46	49284											
HCN3	57657	broad.mit.edu	37	chr1	155258080	155258081	+	Frame_Shift_Del	DEL	CT	CT	-																															ccactctcagcctcccaaccCtctctgcctcagcgggcaac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:155258080_155258081delCT	ENST00000368358.3	+	8	2159_2160	c.2151_2152delCT	c.(2149-2154)ccctctfs	p.S718fs	HCN3_ENST00000496230.1_3'UTR	NM_020897.2	NP_065948.1	Q9P1Z3	HCN3_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 3	718	Pro-rich.					integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCTCCCAACCCTCTCTGCCTCA	0.698													-	155258081	CT	-	155258080	7	5	592	1	0	1	0	1	0	0	0	0	7053	668	24	0	2181	0	HCN3	1	155258080	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	1981670	155258080	93992541	47	49285											
SLAMF8	56833	broad.mit.edu	37	chr1	159802792	159802792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaataacctatagctggcGacgggagacaaccatggact	14	6	11	10	3	0	1	0	0	0	1	0	5	0	2	2	3	3	1	2	3	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:159802792G>A	ENST00000289707.5	+	3	643	c.494G>A	c.(493-495)cGa>cAa	p.R165Q	SLAMF8_ENST00000471286.1_3'UTR|SLAMF8_ENST00000368104.4_Missense_Mutation_p.R56Q	NM_020125.2	NP_064510.1	Q9P0V8	SLAF8_HUMAN	SLAM family member 8	165	Ig-like C2-type.					integral to membrane				endometrium(2)|large_intestine(4)|lung(6)	12	all_hematologic(112;0.0597)					TATAGCTGGCGACGGGAGACA	0.542													A	159802792	G	A	159802792	3	1	592	1	0	0	0	0	1	0	0	0	14464	1058	37	1	504	1	SLAMF8	1	159802792	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4544712	159802792	89447829	48	49286											
DARS2	55157	broad.mit.edu	37	chr1	173826739	173826739	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caaagtccttccggggacatGacctcatgagcaatacccca	12	7	8	14	1	1	2	1	2	0	0	3	3	3	3	5	2	2	1	5	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:173826739G>A	ENST00000361951.4	+	17	2561	c.1834G>A	c.(1834-1836)Gac>Aac	p.D612N	DARS2_ENST00000239457.5_Missense_Mutation_p.D157N|DARS2_ENST00000471476.1_3'UTR	NM_018122.4	NP_060592.2	Q6PI48	SYDM_HUMAN	aspartyl-tRNA synthetase 2, mitochondrial	612					tRNA aminoacylation for protein translation	mitochondrial matrix|nucleus	aspartate-tRNA ligase activity|ATP binding|nucleic acid binding			breast(4)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|urinary_tract(1)	30					L-Aspartic Acid(DB00128)	CCGGGGACATGACCTCATGAG	0.483													A	173826739	G	A	173826739	3	1	592	1	0	0	0	0	1	0	0	0	4276	1290	45	2	1900	2	DARS2	1	173826739	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14023947	173826739	75423882	49	49287											
TNN	63923	broad.mit.edu	37	chr1	175097740	175097740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggctcccagttggtgcccGtttcccacacccttcggact	4	12	9	16	2	0	0	0	0	0	0	3	1	2	1	4	3	1	3	4	3	0	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:175097740G>A	ENST00000239462.4	+	15	3301	c.3188G>A	c.(3187-3189)cGt>cAt	p.R1063H		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1063	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		GTTGGTGCCCGTTTCCCACAC	0.527													A	175097740	G	A	175097740	3	1	592	1	0	0	0	0	1	0	0	0	16423	1145	40	1	3242	1	TNN	1	175097740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1271001	175097740	74152881	50	49288											
SOAT1	6646	broad.mit.edu	37	chr1	179310292	179310292	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacattgggccactggCtatagcaagagttctcatcc	10	12	8	11	0	2	1	2	0	1	1	4	1	3	1	2	2	2	3	2	2	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:179310292C>G	ENST00000367619.3	+	7	770	c.627C>G	c.(625-627)ggC>ggG	p.G209G	SOAT1_ENST00000539888.1_Silent_p.G144G|SOAT1_ENST00000535686.1_5'UTR|SOAT1_ENST00000540564.1_Silent_p.G151G	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	209					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	GGGCCACTGGCTATAGCAAGA	0.428													G	179310292	C	G	179310292	2	3	592	1	0	0	0	0	0	0	0	1	15004	784	28	4		4	SOAT1	1	179310292	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4212552	179310292	69940329	51	49289											
PTGS2	5743	broad.mit.edu	37	chr1	186645692	186645692	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatactctgttgtgttcccGcagccagattgtggcataca	8	12	10	11	1	1	1	0	0	1	1	2	1	2	1	2	1	3	5	2	1	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:186645692G>A	ENST00000367468.5	-	7	1013	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W	PTGS2_ENST00000490885.2_5'UTR	NM_000963.2	NP_000954.1	P35354	PGH2_HUMAN	prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)	293					cellular component movement|cyclooxygenase pathway|hormone biosynthetic process|positive regulation of brown fat cell differentiation|positive regulation of cell migration involved in sprouting angiogenesis|positive regulation of fever generation|positive regulation of fibroblast growth factor production|positive regulation of nitric oxide biosynthetic process|positive regulation of platelet-derived growth factor production|positive regulation of prostaglandin biosynthetic process|positive regulation of transforming growth factor-beta production|positive regulation vascular endothelial growth factor production|regulation of blood pressure|response to oxidative stress|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome|neuron projection|nucleus	enzyme binding|heme binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peroxidase activity|prostaglandin-endoperoxide synthase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27					Acetaminophen(DB00316)|Aspirin(DB00945)|Balsalazide(DB01014)|Bromfenac(DB00963)|Carprofen(DB00821)|Celecoxib(DB00482)|Ciclopirox(DB01188)|Diclofenac(DB00586)|Diflunisal(DB00861)|Epoprostenol(DB01240)|Etodolac(DB00749)|Etoricoxib(DB01628)|Fenoprofen(DB00573)|Flurbiprofen(DB00712)|gamma-Homolinolenic acid(DB00154)|Ginseng(DB01404)|Ibuprofen(DB01050)|Icosapent(DB00159)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Ketorolac(DB00465)|Lenalidomide(DB00480)|Lumiracoxib(DB01283)|Meclofenamic acid(DB00939)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mesalazine(DB00244)|Nabumetone(DB00461)|Naproxen(DB00788)|Oxaprozin(DB00991)|Phenylbutazone(DB00812)|Rofecoxib(DB00533)|Salicyclic acid(DB00936)|Salsalate(DB01399)|Sulindac(DB00605)|Suprofen(DB00870)|Tenoxicam(DB00469)|Thalidomide(DB01041)|Tiaprofenic acid(DB01600)|Tolmetin(DB00500)|Valdecoxib(DB00580)	TTGTGTTCCCGCAGCCAGATT	0.507													A	186645692	G	A	186645692	3	1	592	1	0	0	0	0	1	0	0	0	12842	1086	38	1	953	1	PTGS2	1	186645692	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7335400	186645692	62604929	52	49290											
PTPRC	5788	broad.mit.edu	37	chr1	198671623	198671623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgctgccttacctgcaCgcacctccaacaccaccatc	8	8	5	20	1	1	0	0	0	1	0	3	0	2	0	6	0	5	4	6	0	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:198671623C>T	ENST00000367376.2	+	6	712	c.541C>T	c.(541-543)Cgc>Tgc	p.R181C	PTPRC_ENST00000352140.3_Intron|PTPRC_ENST00000348564.6_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.R183C|PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000594404.1_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	181					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CTTACCTGCACGCACCTCCAA	0.498													T	198671623	C	T	198671623	3	4	592	1	0	0	0	0	1	0	0	0	12885	536	19	1	570	1	PTPRC	1	198671623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12025931	198671623	50578998	53	49291											
IGFN1	91156	broad.mit.edu	37	chr1	201184276	201184276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcgaggccaccctgaccGtccagggtaaggcccagccc	9	3	13	16	2	0	2	0	1	0	1	1	3	1	2	6	3	2	1	6	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201184276G>A	ENST00000335211.4	+	14	9119	c.8989G>A	c.(8989-8991)Gtc>Atc	p.V2997I	IGFN1_ENST00000295591.8_Missense_Mutation_p.V157I|IGFN1_ENST00000451870.2_Missense_Mutation_p.V540I	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CACCCTGACCGTCCAGGGTAA	0.587													A	201184276	G	A	201184276	3	1	592	1	0	0	0	0	1	0	0	0	7648	1145	40	1	9039	1	IGFN1	1	201184276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2512653	201184276	48066345	54	49292											
NAV1	89796	broad.mit.edu	37	chr1	201757608	201757608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttccagtgagtcccactgCggccaccacgccaagaatca	10	6	8	17	2	1	2	1	1	0	1	3	2	3	2	6	1	1	0	6	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201757608C>T	ENST00000367296.4	+	10	3428	c.3008C>T	c.(3007-3009)gCg>gTg	p.A1003V	NAV1_ENST00000295624.6_Missense_Mutation_p.A1003V|NAV1_ENST00000367302.1_Intron|NAV1_ENST00000469130.1_3'UTR|NAV1_ENST00000367297.4_Missense_Mutation_p.A1003V|NAV1_ENST00000367300.3_Intron|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000367295.1_Missense_Mutation_p.A612V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	1003					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						AGTCCCACTGCGGCCACCACG	0.652													T	201757608	C	T	201757608	3	4	592	1	0	0	0	0	1	0	0	0	10259	768	27	1	3103	1	NAV1	1	201757608	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	573332	201757608	47493013	55	49293											
ELF3	1999	broad.mit.edu	37	chr1	201982319	201982319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccccacagatggttttcGtgactgcaagaagggggatc	9	9	13	10	2	0	3	0	1	0	2	3	4	1	4	2	3	1	2	2	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:201982319G>A	ENST00000359651.3	+	6	3890	c.698G>A	c.(697-699)cGt>cAt	p.R233H	ELF3_ENST00000367284.5_Missense_Mutation_p.R233H|RP11-510N19.5_ENST00000504773.1_RNA|ELF3_ENST00000367283.3_Missense_Mutation_p.R233H			P78545	ELF3_HUMAN	E74-like factor 3 (ets domain transcription factor, epithelial-specific )	233					epidermis development|epithelial cell differentiation|inflammatory response|mammary gland involution|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	20						GATGGTTTTCGTGACTGCAAG	0.597													A	201982319	G	A	201982319	3	1	592	1	0	0	0	0	1	0	0	0	5096	1145	40	1	720	1	ELF3	1	201982319	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	224711	201982319	47268302	56	49294											
ADIPOR1	51094	broad.mit.edu	37	chr1	202914187	202914187	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaagctgaggcagagcaCtgcacccaaaaagaacatcc	16	3	11	11	0	0	4	0	1	0	3	1	5	1	4	2	2	4	4	2	2	4	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:202914187C>T	ENST00000340990.5	-	5	839	c.541G>A	c.(541-543)Gtg>Atg	p.V181M	ADIPOR1_ENST00000367254.3_Intron|ADIPOR1_ENST00000436244.1_Missense_Mutation_p.V181M	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	181					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGCAGAGCACTGCACCCAAA	0.448													T	202914187	C	T	202914187	3	4	592	1	0	0	0	0	1	0	0	0	318	565	20	2	602	2	ADIPOR1	1	202914187	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	931868	202914187	46336434	57	49295											
FMOD	2331	broad.mit.edu	37	chr1	203311549	203311549	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcttgatctcgttcccGtccaggcgcagcacctgcag	5	9	11	16	4	1	1	0	1	1	0	4	1	3	1	3	1	3	5	3	1	0	2	rs142981560	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:203311549G>A	ENST00000354955.4	-	3	1516	c.1053C>T	c.(1051-1053)gaC>gaT	p.D351D	FMOD_ENST00000493296.1_5'UTR	NM_002023.4	NP_002014.2	Q06828	FMOD_HUMAN	fibromodulin	351					transforming growth factor beta receptor complex assembly	extracellular space|proteinaceous extracellular matrix				breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	17			BRCA - Breast invasive adenocarcinoma(75;0.171)			TCTCGTTCCCGTCCAGGCGCA	0.642											OREG0014119	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	203311549	G	A	203311549	2	1	592	1	0	0	0	0	0	0	0	1	6008	1136	40	1		1	FMOD	1	203311549	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	397362	203311549	45939072	58	49296											
DSTYK	25778	broad.mit.edu	37	chr1	205138721	205138721	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgataaagcggtgatctttcGctctccattctcctggttga	7	14	9	11	3	3	2	0	2	3	0	6	3	3	2	2	2	1	2	2	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205138721G>A	ENST00000367162.3	-	3	924	c.894C>T	c.(892-894)agC>agT	p.S298S	DSTYK_ENST00000367160.4_Silent_p.S298S|DSTYK_ENST00000367161.3_Silent_p.S298S	NM_015375.2	NP_056190.1	Q6XUX3	DUSTY_HUMAN	dual serine/threonine and tyrosine protein kinase	298						cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(2)	14						GTGATCTTTCGCTCTCCATTC	0.483													A	205138721	G	A	205138721	2	1	592	1	0	0	0	0	0	0	0	1	4824	1078	38	1		1	DSTYK	1	205138721	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1827172	205138721	44111900	59	49297											
RAB7L1	8934	broad.mit.edu	37	chr1	205740772	205740772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcgtgtcatagaggtgaagCgctcctgccctggggagaaa	10	8	14	9	2	1	3	1	1	0	2	3	4	2	3	2	3	2	1	2	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:205740772C>T	ENST00000367139.3	-	4	509	c.206G>A	c.(205-207)cGc>cAc	p.R69H	RAB7L1_ENST00000414729.1_Missense_Mutation_p.R69H|RAB7L1_ENST00000235932.4_Missense_Mutation_p.R69H|RAB7L1_ENST00000437324.2_5'UTR|RAB7L1_ENST00000446390.2_Missense_Mutation_p.R45H|RAB7L1_ENST00000468887.1_Intron	NM_003929.2	NP_003920.1	O14966	RAB7L_HUMAN	RAB7, member RAS oncogene family-like 1	69					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	10	Breast(84;0.0799)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			AGAGGTGAAGCGCTCCTGCCC	0.517													T	205740772	C	T	205740772	3	4	592	1	0	0	0	0	1	0	0	0	13043	768	27	1	417	1	RAB7L1	1	205740772	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	602051	205740772	43509849	60	49298											
CR1	1378	broad.mit.edu	37	chr1	207793265	207793265	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtttatgaatggaatctcGaaggagttagaaatgaaaaa	17	11	10	3	1	1	3	0	2	1	1	2	6	1	5	0	2	0	2	0	2	8	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793265G>A	ENST00000367049.4	+	43	7107	c.7107G>A	c.(7105-7107)tcG>tcA	p.S2369S	CR1_ENST00000367052.1_Silent_p.S1919S|CR1_ENST00000367053.1_Silent_p.S1919S|CR1_ENST00000400960.2_Silent_p.S1919S|CR1_ENST00000367051.1_Silent_p.S1919S	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1919					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						ATGGAATCTCGAAGGAGTTAG	0.363													A	207793265	G	A	207793265	2	1	592	1	0	0	0	0	0	0	0	1	3871	1045	37	1		1	CR1	1	207793265	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2052493	207793265	41457356	61	49299											
CR1	1378	broad.mit.edu	37	chr1	207793369	207793369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctggagccagtgccaggCggatgacagatgggaccctc	8	6	14	13	1	0	2	0	1	0	1	2	5	1	5	4	4	2	0	4	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:207793369C>T	ENST00000367049.4	+	43	7211	c.7211C>T	c.(7210-7212)gCg>gTg	p.A2404V	CR1_ENST00000367052.1_Missense_Mutation_p.A1954V|CR1_ENST00000367053.1_Missense_Mutation_p.A1954V|CR1_ENST00000400960.2_Missense_Mutation_p.A1954V|CR1_ENST00000367051.1_Missense_Mutation_p.A1954V	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1954					complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGTGCCAGGCGGATGACAGA	0.468											OREG0014194	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	207793369	C	T	207793369	3	4	592	1	0	0	0	0	1	0	0	0	3871	768	27	1	7381	1	CR1	1	207793369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	104	207793369	41457252	62	49300											
IARS2	55699	broad.mit.edu	37	chr1	220307791	220307791	+	Frame_Shift_Del	DEL	G	G	-																															tggaaggaaaagaccagctcGggggttggtttcagtcatcc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220307791delG	ENST00000366922.1	+	15	2000	c.1669delG	c.(1669-1671)gggfs	p.G558fs	IARS2_ENST00000302637.5_Frame_Shift_Del_p.G630fs			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	630					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGACCAGCTCGGGGGTTGGTT	0.383													-	220307791	G	-	220307791	7	5	592	1	0	1	0	1	0	0	0	0	7532	1116	39	0	1943	0	IARS2	1	220307791	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	12514422	220307791	28942830	63	49301											
MARK1	4139	broad.mit.edu	37	chr1	220791991	220791991	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattaaggaactgcgagagcGagttttacgagggaagtacc	13	9	13	6	3	0	1	0	0	0	1	0	6	0	3	1	2	5	2	1	2	6	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:220791991G>A	ENST00000402574.1	+	9	1400	c.398G>A	c.(397-399)cGa>cAa	p.R133Q	MARK1_ENST00000366918.4_Missense_Mutation_p.R246Q|MARK1_ENST00000366917.4_Missense_Mutation_p.R268Q	NM_018650.3	NP_061120.3	Q9P0L2	MARK1_HUMAN	MAP/microtubule affinity-regulating kinase 1	268	Protein kinase.				intracellular protein kinase cascade	cytoplasm|microtubule cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(12)|lung(22)|ovary(4)|pancreas(1)|skin(3)|stomach(3)|urinary_tract(1)	63				GBM - Glioblastoma multiforme(131;0.0407)		CTGCGAGAGCGAGTTTTACGA	0.353													A	220791991	G	A	220791991	3	1	592	1	0	0	0	0	1	0	0	0	9387	1058	37	1	837	1	MARK1	1	220791991	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	484200	220791991	28458630	64	49302											
DISP1	84976	broad.mit.edu	37	chr1	223176292	223176293	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtgattgtccttttagttaTgtgtgtctacaccaagtcca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:223176292_223176293delTG	ENST00000284476.6	+	8	1717_1718	c.1553_1554delTG	c.(1552-1554)atgfs	p.M518fs		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	518	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		CTTTTAGTTATGTGTGTCTACA	0.361													-	223176293	TG	-	223176292	7	5	592	1	0	1	0	1	0	0	0	0	4578	1464	51	0	1579	0	DISP1	1	223176292	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	2384301	223176292	26074329	65	49303											
CDC42BPA	8476	broad.mit.edu	37	chr1	227261695	227261695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atccagtttcgcaaaacgacGcattttccagggcatatcct	11	11	7	12	3	0	0	0	0	0	0	4	1	3	0	3	1	1	4	3	1	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:227261695G>A	ENST00000366769.3	-	19	3896	c.2605C>T	c.(2605-2607)Cgt>Tgt	p.R869C	CDC42BPA_ENST00000488131.1_5'UTR|CDC42BPA_ENST00000366766.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366765.3_Missense_Mutation_p.R869C|CDC42BPA_ENST00000334218.5_Missense_Mutation_p.R869C|CDC42BPA_ENST00000366767.3_Missense_Mutation_p.R788C|CDC42BPA_ENST00000366764.2_Missense_Mutation_p.R869C|CDC42BPA_ENST00000535525.1_Missense_Mutation_p.R869C	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	869					actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				GCAAAACGACGCATTTTCCAG	0.378													A	227261695	G	A	227261695	3	1	592	1	0	0	0	0	1	0	0	0	3102	1087	38	1	2626	1	CDC42BPA	1	227261695	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4085403	227261695	21988926	66	49304											
OBSCN	84033	broad.mit.edu	37	chr1	228471282	228471282	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgttcacgtgcaagaCggagcaccccgcggccacag	9	5	13	14	4	1	1	1	0	0	1	1	2	1	2	3	2	3	4	3	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:228471282C>T	ENST00000570156.2	+	38	10177	c.10103C>T	c.(10102-10104)aCg>aTg	p.T3368M	OBSCN_ENST00000284548.11_Missense_Mutation_p.T2939M|OBSCN_ENST00000422127.1_Missense_Mutation_p.T2939M|OBSCN_ENST00000366709.4_Missense_Mutation_p.T58M|OBSCN_ENST00000366707.4_Missense_Mutation_p.T58M|OBSCN_ENST00000359599.6_Missense_Mutation_p.T1786M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2402	Ig-like 34.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACGTGCAAGACGGAGCACCCC	0.632													T	228471282	C	T	228471282	3	4	592	1	0	0	0	0	1	0	0	0	10888	536	19	1	8942	1	OBSCN	1	228471282	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1209587	228471282	20779339	67	49305											
SIPA1L2	57568	broad.mit.edu	37	chr1	232574983	232574983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtcaggcccagagacgtcgGcagcatcagcccactgctcg	8	5	12	16	4	2	1	2	0	0	1	4	2	2	1	2	2	3	3	2	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:232574983G>A	ENST00000366630.1	-	14	4260	c.3902C>T	c.(3901-3903)gCc>gTc	p.A1301V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.A1301V|SIPA1L2_ENST00000308942.4_Missense_Mutation_p.A375V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	1301					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				AGAGACGTCGGCAGCATCAGC	0.667													A	232574983	G	A	232574983	3	1	592	1	0	0	0	0	1	0	0	0	14424	1203	42	2	1302	2	SIPA1L2	1	232574983	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4103701	232574983	16675638	68	49306											
KIF26B	55083	broad.mit.edu	37	chr1	245848743	245848743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggcggggagagctcctgcGaagaaggccgcatgcgcagg	8	3	18	12	5	0	2	0	0	0	2	1	4	1	2	3	5	3	3	3	5	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:245848743G>A	ENST00000366518.4	+	9	1419	c.1315G>A	c.(1315-1317)Gaa>Aaa	p.E439K	KIF26B_ENST00000407071.2_Missense_Mutation_p.E820K			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	820					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GAGCTCCTGCGAAGAAGGCCG	0.652													A	245848743	G	A	245848743	3	1	592	1	0	0	0	0	1	0	0	0	8353	1059	37	1	2504	1	KIF26B	1	245848743	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13273760	245848743	3401878	69	49307											
AHCTF1	25909	broad.mit.edu	37	chr1	247021040	247021040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttcagttccttgaacCgggcttaagtgattcaattc	10	13	9	9	1	2	2	2	2	0	0	4	3	3	2	2	1	2	3	2	1	4	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr1:247021040C>T	ENST00000366508.1	-	30	4450	c.4314G>A	c.(4312-4314)ccG>ccA	p.P1438P	AHCTF1_ENST00000470300.1_5'UTR|AHCTF1_ENST00000391829.2_Silent_p.P1403P|AHCTF1_ENST00000326225.3_Silent_p.P1412P			Q8WYP5	ELYS_HUMAN	AT hook containing transcription factor 1	1403	Necessary for nuclear localization (By similarity).				cytokinesis|mitotic prometaphase|mRNA transport|nuclear pore complex assembly|protein transport|transmembrane transport	condensed chromosome kinetochore|cytosol|nuclear matrix|nuclear membrane|nuclear pore|nucleoplasm	DNA binding			NS(1)|breast(6)|cervix(3)|endometrium(8)|kidney(6)|large_intestine(12)|liver(2)|lung(21)|ovary(5)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	74	all_cancers(71;3.05e-05)|all_epithelial(71;6.72e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0458)|Lung NSC(105;0.0518)	all_cancers(173;0.0266)	OV - Ovarian serous cystadenocarcinoma(106;0.00271)			TTCCTTGAACCGGGCTTAAGT	0.343													T	247021040	C	T	247021040	2	4	592	1	0	0	0	0	0	0	0	1	408	639	23	1		1	AHCTF1	1	247021040	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1172297	247021040	2229581	70	49308											
PXDN	7837	broad.mit.edu	37	chr2	1684083	1684083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtaggttttcagcaaatcCgccaaccacaggatttcaca	12	9	8	12	2	2	0	2	0	0	0	3	1	3	1	3	2	2	3	3	2	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:1684083C>T	ENST00000252804.4	-	7	662	c.612G>A	c.(610-612)gcG>gcA	p.A204A		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	204	LRRCT.				extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TCAGCAAATCCGCCAACCACA	0.587													T	1684083	C	T	1684083	2	4	592	1	0	0	0	0	0	0	0	1	12935	639	23	1		1	PXDN	2	1684083	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1684083	241515290	71	49309											
ODC1	4953	broad.mit.edu	37	chr2	10582006	10582006	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattaaatgatccatagacGccatcattcacataatacat	17	11	3	10	1	2	2	2	1	0	1	3	2	3	2	2	0	1	0	2	0	6	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:10582006G>A	ENST00000234111.4	-	10	1473	c.963C>T	c.(961-963)ggC>ggT	p.G321G	ODC1_ENST00000405333.1_Silent_p.G321G	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	321					polyamine biosynthetic process|regulation of cellular amino acid metabolic process|response to virus	cytosol	ornithine decarboxylase activity|protein binding			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Pyridoxal Phosphate(DB00114)|Spermine(DB00127)	ATCCATAGACGCCATCATTCA	0.378													A	10582006	G	A	10582006	2	1	592	1	0	0	0	0	0	0	0	1	10901	1074	38	1		1	ODC1	2	10582006	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8897923	10582006	232617367	72	49310											
PFN4	375189	broad.mit.edu	37	chr2	24344101	24344103	+	In_Frame_Del	DEL	CTT	CTT	-																															ttttcccttgaaatacagtcCttctcttcgggcttgcaaag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:24344101_24344103delCTT	ENST00000313213.4	-	3	556_558	c.185_187delAAG	c.(184-189)gaagga>gga	p.E62del	PFN4_ENST00000465360.1_5'UTR	NM_199346.1	NP_955378.1	Q8NHR9	PROF4_HUMAN	profilin family, member 4	62					actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin binding			breast(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)	6	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAATACAGTCCTTCTCTTCGGGC	0.453													-	24344103	CTT	-	24344101	7	5	592	1	0	1	0	1	0	0	0	0	11847	690	24	0	214	0	PFN4	2	24344101	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	13762095	24344101	218855272	73	49311											
DNMT3A	1788	broad.mit.edu	37	chr2	25464537	25464537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacctccgaggcaatgtagCggtccacctgaatgcccaag	11	6	10	14	2	0	1	0	1	0	0	2	2	2	1	5	2	2	2	5	2	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:25464537C>T	ENST00000264709.3	-	17	2313	c.1976G>A	c.(1975-1977)cGc>cAc	p.R659H	DNMT3A_ENST00000321117.5_Missense_Mutation_p.R659H|DNMT3A_ENST00000402667.1_Missense_Mutation_p.R436H|DNMT3A_ENST00000380746.4_Missense_Mutation_p.R470H|DNMT3A_ENST00000474887.1_5'UTR	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	659					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.R659H(1)|p.R470H(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCAATGTAGCGGTCCACCTG	0.627			"Mis, F, N, S"		AML								T	25464537	C	T	25464537	3	4	592	1	0	0	0	0	1	0	0	0	4715	768	27	1	790	1	DNMT3A	2	25464537	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1120436	25464537	217734836	74	49312											
HADHA	3030	broad.mit.edu	37	chr2	26414365	26414365	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaacctcccagacaaggCgggaagccaagcccaaagac	15	1	10	15	1	0	2	0	0	0	2	1	4	1	3	5	2	3	0	5	2	5	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26414365C>T	ENST00000380649.3	-	19	2262	c.2133G>A	c.(2131-2133)ccG>ccA	p.P711P		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	711					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	CCAGACAAGGCGGGAAGCCAA	0.552													T	26414365	C	T	26414365	2	4	592	1	0	0	0	0	0	0	0	1	6998	755	27	1		1	HADHA	2	26414365	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	949828	26414365	216785008	75	49313											
OTOF	9381	broad.mit.edu	37	chr2	26700618	26700618	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtcgttcaggccttcttcCtgtgaatcaggagtgtgggt	6	14	13	8	1	3	1	2	1	1	0	5	2	4	2	2	3	0	1	2	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:26700618C>T	ENST00000272371.2	-	19	2341		c.e19-1		OTOF_ENST00000402415.3_Silent_p.Q48Q|OTOF_ENST00000403946.3_Splice_Site|OTOF_ENST00000338581.6_Splice_Site|OTOF_ENST00000339598.3_Splice_Site	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin						cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGCCTTCTTCCTGTGAATCAG	0.607													T	26700618	C	T	26700618	5	4	592	1	0	0	0	0	0	0	1	0	11379	695	24	2	4076	2	OTOF	2	26700618	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	286253	26700618	216498755	76	49314											
TRIM54	57159	broad.mit.edu	37	chr2	27529116	27529116	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtggagctggcagggcGgccggagccaggctatgaga	9	4	20	8	2	0	1	0	1	0	1	0	5	0	3	2	7	2	3	2	7	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:27529116G>A	ENST00000296098.4	+	8	1298	c.1028G>A	c.(1027-1029)cGg>cAg	p.R343Q	TRIM54_ENST00000380075.2_Missense_Mutation_p.R301Q	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	301					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGGCAGGGCGGCCGGAGCCA	0.642													A	27529116	G	A	27529116	3	1	592	1	0	0	0	0	1	0	0	0	16629	1116	39	1	1058	1	TRIM54	2	27529116	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	828498	27529116	215670257	77	49315											
PLB1	151056	broad.mit.edu	37	chr2	28785936	28785936	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagccggctgacatcaaCgtaattggagccctgggtga	10	8	13	10	2	1	3	1	3	0	0	1	4	1	4	2	3	3	2	2	3	3	2	rs147698393		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:28785936C>T	ENST00000422425.2	+	18	1253	c.1209C>T	c.(1207-1209)aaC>aaT	p.N403N	PLB1_ENST00000327757.5_Silent_p.N392N|PLB1_ENST00000329020.6_Silent_p.N80N	NM_001170585.1	NP_001164056.1	Q6P1J6	PLB1_HUMAN	phospholipase B1	392	4 X 308-326 AA approximate repeats.				lipid catabolic process|retinoid metabolic process|steroid metabolic process	apical plasma membrane|integral to membrane	lysophospholipase activity|phospholipase A2 activity|retinyl-palmitate esterase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(31)|ovary(6)|prostate(1)|skin(7)|stomach(2)	69	Acute lymphoblastic leukemia(172;0.155)					CTGACATCAACGTAATTGGAG	0.488													T	28785936	C	T	28785936	2	4	592	1	0	0	0	0	0	0	0	1	12101	535	19	1		1	PLB1	2	28785936	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1256820	28785936	214413437	78	49316											
FAM179A	165186	broad.mit.edu	37	chr2	29240816	29240816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccgctttgcccgccacGcctcaggtgggcaggcccga	5	5	13	18	4	1	0	1	0	0	0	1	1	1	0	6	3	2	2	6	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:29240816G>A	ENST00000379558.4	+	10	1705	c.1354G>A	c.(1354-1356)Gcc>Acc	p.A452T	FAM179A_ENST00000465300.1_Intron|FAM179A_ENST00000403861.2_Intron	NM_199280.2	NP_954974.2	Q6ZUX3	F179A_HUMAN	family with sequence similarity 179, member A	452							binding			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						TGCCCGCCACGCCTCAGGTGG	0.672													A	29240816	G	A	29240816	3	1	592	1	0	0	0	0	1	0	0	0	5550	1087	38	1	1388	1	FAM179A	2	29240816	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	454880	29240816	213958557	79	49317											
SRBD1	55133	broad.mit.edu	37	chr2	45812861	45812861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttatcatcattaaagagaCgaatgatgttggcacaaacc	15	11	8	7	1	2	2	2	1	0	1	2	4	2	2	1	1	1	3	1	1	5	3	rs145594682		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:45812861C>T	ENST00000263736.4	-	5	763	c.701G>A	c.(700-702)cGt>cAt	p.R234H		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	234					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			ATTAAAGAGACGAATGATGTT	0.323													T	45812861	C	T	45812861	3	4	592	1	0	0	0	0	1	0	0	0	15229	536	19	1	2354	1	SRBD1	2	45812861	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	16572045	45812861	197386512	80	49318											
EPAS1	2034	broad.mit.edu	37	chr2	46574124	46574124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgcctctgccccacagtGtgagctcccatctggacaag	8	8	10	15	0	2	1	0	1	2	0	3	2	3	2	4	1	4	2	4	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:46574124G>A	ENST00000263734.3	+	2	649	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	EPAS1_ENST00000467888.1_3'UTR	NM_001430.4	NP_001421.2	Q99814	EPAS1_HUMAN	endothelial PAS domain protein 1	47	Helix-loop-helix motif.				angiogenesis|myoblast cell fate commitment|positive regulation of transcription from RNA polymerase II promoter|response to hypoxia	transcription factor complex	histone acetyltransferase binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|signal transducer activity|transcription coactivator activity|transcription factor binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	LUSC - Lung squamous cell carcinoma(58;0.151)			GCCCCACAGTGTGAGCTCCCA	0.617													A	46574124	G	A	46574124	3	1	592	1	0	0	0	0	1	0	0	0	5191	1377	48	2	145	2	EPAS1	2	46574124	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	761263	46574124	196625249	81	49319											
VPS54	51542	broad.mit.edu	37	chr2	64199337	64199339	+	In_Frame_Del	DEL	AGG	AGG	-																															gtcctttcgaaggtatctttAggaggacaaatattcttgca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:64199337_64199339delAGG	ENST00000409558.4	-	4	536_538	c.382_384delCCT	c.(382-384)cctdel	p.P128del	VPS54_ENST00000354504.3_In_Frame_Del_p.P23del|VPS54_ENST00000272322.4_In_Frame_Del_p.P140del	NM_001005739.1|NM_016516.2	NP_001005739.1|NP_057600.2	Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)						protein transport|retrograde transport, endosome to Golgi			p.P140T(1)		endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						AGGTATCTTTAGGAGGACAAATA	0.286													-	64199339	AGG	-	64199337	7	5	592	1	0	1	0	1	0	0	0	0	17318	407	15	0	2593	0	VPS54	2	64199337	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	17625213	64199337	179000036	82	49320											
CLEC4F	165530	broad.mit.edu	37	chr2	71043766	71043766	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatagatctcagcattagcGttctttaaactgctattggc	11	14	7	9	1	2	1	1	0	2	1	3	1	2	1	0	1	4	3	0	1	5	7	rs142908853		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71043766G>A	ENST00000272367.2	-	4	823	c.747C>T	c.(745-747)aaC>aaT	p.N249N	CLEC4F_ENST00000426626.1_Silent_p.N249N	NM_001258027.1|NM_173535.2	NP_001244956.1|NP_775806.2	Q8N1N0	CLC4F_HUMAN	C-type lectin domain family 4, member F	249					endocytosis	integral to membrane	receptor activity|sugar binding			endometrium(1)|large_intestine(5)|lung(18)|ovary(5)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)	37						CAGCATTAGCGTTCTTTAAAC	0.418													A	71043766	G	A	71043766	2	1	592	1	0	0	0	0	0	0	0	1	3547	1136	40	1		1	CLEC4F	2	71043766	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6844429	71043766	172155607	83	49321											
DYSF	8291	broad.mit.edu	37	chr2	71753455	71753455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctgcctgaaggtcttcCgggccgaggacttgccgcag	6	9	13	13	3	2	1	0	1	2	0	3	3	3	2	4	3	2	1	4	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:71753455C>T	ENST00000258104.3	+	12	1436	c.1159C>T	c.(1159-1161)Cgg>Tgg	p.R387W	DYSF_ENST00000409651.1_Missense_Mutation_p.R419W|DYSF_ENST00000410041.1_Missense_Mutation_p.R419W|DYSF_ENST00000409744.1_Missense_Mutation_p.R388W|DYSF_ENST00000410020.3_Missense_Mutation_p.R419W|DYSF_ENST00000409762.1_Missense_Mutation_p.R418W|DYSF_ENST00000413539.2_Missense_Mutation_p.R418W|DYSF_ENST00000394120.2_Missense_Mutation_p.R388W|DYSF_ENST00000409366.1_Missense_Mutation_p.R388W|DYSF_ENST00000429174.2_Missense_Mutation_p.R387W|DYSF_ENST00000409582.3_Missense_Mutation_p.R418W	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	387	C2 3.		FRAED -> Y (in MMD1).			cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GAAGGTCTTCCGGGCCGAGGA	0.672													T	71753455	C	T	71753455	3	4	592	1	0	0	0	0	1	0	0	0	4898	643	23	1	1397	1	DYSF	2	71753455	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	709689	71753455	171445918	84	49322											
CYP26B1	56603	broad.mit.edu	37	chr2	72359683	72359683	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttcacgtctttgaacacGggcgctgtgtcatgggtgtc	6	12	13	10	4	3	1	2	1	1	0	4	1	3	1	0	2	1	2	0	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:72359683G>A	ENST00000001146.2	-	6	1415	c.1212C>T	c.(1210-1212)ccC>ccT	p.P404P	CYP26B1_ENST00000412253.1_Silent_p.P213P|CYP26B1_ENST00000546307.1_Silent_p.P329P	NM_001277742.1|NM_019885.2	NP_001264671.1|NP_063938.1	Q9NR63	CP26B_HUMAN	cytochrome P450, family 26, subfamily B, polypeptide 1	404					cell fate determination|embryonic limb morphogenesis|male meiosis|negative regulation of retinoic acid receptor signaling pathway|proximal/distal pattern formation|retinoic acid catabolic process|spermatogenesis|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|retinoic acid 4-hydroxylase activity|retinoic acid binding			breast(1)|kidney(3)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)	28						CTTTGAACACGGGCGCTGTGT	0.612													A	72359683	G	A	72359683	2	1	592	1	0	0	0	0	0	0	0	1	4189	1103	39	1		1	CYP26B1	2	72359683	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	606228	72359683	170839690	85	49323											
ALMS1	7840	broad.mit.edu	37	chr2	73717091	73717091	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaaaatcagcaaaggtcttCgaatgccattcgatgaaaag	16	9	8	8	2	3	1	2	1	1	0	5	3	3	1	1	1	2	1	1	1	6	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:73717091C>T	ENST00000264448.6	+	10	8113	c.8002C>T	c.(8002-8004)Cga>Tga	p.R2668*	ALMS1_ENST00000409009.1_Nonsense_Mutation_p.R2626*	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2668					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CAAAGGTCTTCGAATGCCATT	0.378													T	73717091	C	T	73717091	4	4	592	1	0	0	0	0	0	1	0	0	535	876	31	1	8040	1	ALMS1	2	73717091	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1357408	73717091	169482282	86	49324											
DCTN1	1639	broad.mit.edu	37	chr2	74595114	74595114	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttactgctcatagcggtgtaGcgtggcctgcagcaggctca	7	10	13	11	2	2	0	2	0	0	0	2	0	2	0	1	3	6	5	1	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74595114G>A	ENST00000361874.3	-	17	2316	c.1999C>T	c.(1999-2001)Cta>Tta	p.L667L	DCTN1_ENST00000407639.2_Silent_p.L533L|DCTN1_ENST00000409868.1_Silent_p.L650L|DCTN1_ENST00000409438.1_Silent_p.L533L|DCTN1_ENST00000409567.3_Silent_p.L647L|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000394003.3_Silent_p.L660L|DCTN1_ENST00000409240.1_Silent_p.L630L	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	667					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						TAGCGGTGTAGCGTGGCCTGC	0.607													A	74595114	G	A	74595114	2	1	592	1	0	0	0	0	0	0	0	1	4340	962	34	2		2	DCTN1	2	74595114	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	878023	74595114	168604259	87	49325											
TLX2	3196	broad.mit.edu	37	chr2	74742798	74742798	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggacgcgccgcataggcCacccctaccaaaaccggacc	10	3	10	18	4	0	0	0	0	0	0	0	2	0	2	7	3	2	1	7	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:74742798C>A	ENST00000233638.7	+	2	762	c.439C>A	c.(439-441)Cac>Aac	p.H147N		NM_016170.4	NP_057254.1	O43763	TLX2_HUMAN	T-cell leukemia homeobox 2	147						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|ovary(1)	2						CCGCATAGGCCACCCCTACCA	0.652													A	74742798	C	A	74742798	3	1	592	1	0	0	0	0	1	0	0	0	16061	594	21	4	445	4	TLX2	2	74742798	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	147684	74742798	168456575	88	49326											
HK2	3099	broad.mit.edu	37	chr2	75107689	75107689	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacgtgtgtgctaccccggaCggcacaggtacacggcaggg	8	6	15	12	4	0	0	0	0	0	0	0	1	0	1	2	5	4	4	2	5	3	3	rs144796715		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:75107689C>T	ENST00000290573.2	+	10	2163	c.1563C>T	c.(1561-1563)gaC>gaT	p.D521D	HK2_ENST00000409174.1_Silent_p.D493D	NM_000189.4	NP_000180.2	P52789	HXK2_HUMAN	hexokinase 2	521	Catalytic.				apoptotic mitochondrial changes|glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	43						CTACCCCGGACGGCACAGGTA	0.577													T	75107689	C	T	75107689	2	4	592	1	0	0	0	0	0	0	0	1	7246	535	19	1		1	HK2	2	75107689	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	364891	75107689	168091684	89	49327											
TCF7L1	83439	broad.mit.edu	37	chr2	85531438	85531438	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cggcacccttaccccgccctCgccatgaacgcctcgatgtc	6	7	8	20	5	0	1	0	1	0	0	3	2	0	1	6	1	2	1	6	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:85531438C>T	ENST00000282111.3	+	7	1097	c.822C>T	c.(820-822)ctC>ctT	p.L274L		NM_031283.2	NP_112573.1	Q9HCS4	TF7L1_HUMAN	transcription factor 7-like 1 (T-cell specific, HMG-box)	274	Pro-rich.				chromatin organization|regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|skin(4)|upper_aerodigestive_tract(1)	18						ACCCCGCCCTCGCCATGAACG	0.592													T	85531438	C	T	85531438	2	4	592	1	0	0	0	0	0	0	0	1	15797	871	31	1		1	TCF7L1	2	85531438	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10423749	85531438	157667935	90	49328											
SMYD1	150572	broad.mit.edu	37	chr2	88387390	88387390	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccacaggctggcggcGcgcatcatgtggcgggtgga	5	7	16	13	4	1	0	1	0	0	0	2	1	2	1	2	6	0	2	2	6	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:88387390G>A	ENST00000419482.2	+	3	409	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SMYD1_ENST00000444564.2_Silent_p.A108A|SMYD1_ENST00000438570.1_Intron|SMYD1_ENST00000468008.1_3'UTR	NM_198274.3	NP_938015.1	Q8NB12	SMYD1_HUMAN	SET and MYND domain containing 1	108					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(6)|lung(19)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	41						GGCTGGCGGCGCGCATCATGT	0.607													A	88387390	G	A	88387390	2	1	592	1	0	0	0	0	0	0	0	1	14915	1074	38	1		1	SMYD1	2	88387390	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2855952	88387390	154811983	91	49329											
FAHD2B	151313	broad.mit.edu	37	chr2	97749725	97749725	+	Frame_Shift_Del	DEL	G	G	-																															tcctgaatacaccgacacctGggggggtcccagttaggatg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:97749725delG	ENST00000414820.1	-	8	1112	c.842delC	c.(841-843)ccafs	p.P281fs	FAHD2B_ENST00000272610.3_Frame_Shift_Del_p.P281fs|FAHD2B_ENST00000440566.2_Frame_Shift_Del_p.P281fs			Q6P2I3	FAH2B_HUMAN	fumarylacetoacetate hydrolase domain containing 2B	281							hydrolase activity|metal ion binding			kidney(5)|large_intestine(2)|lung(3)|skin(2)	12						ACCGACACCTGGGGGGGTCCC	0.552													-	97749725	G	-	97749725	7	5	592	1	0	1	0	1	0	0	0	0	5419	1348	47	0	110	0	FAHD2B	2	97749725	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	9362335	97749725	145449648	92	49330											
REV1	51455	broad.mit.edu	37	chr2	100022891	100022891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgactgaactgatgggCgactgggacatgtggaaggg	9	8	18	6	1	0	3	0	3	0	0	0	6	0	5	0	5	1	1	0	5	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:100022891C>T	ENST00000258428.3	-	16	2738	c.2510G>A	c.(2509-2511)cGc>cAc	p.R837H	REV1_ENST00000393445.3_Missense_Mutation_p.R836H|REV1_ENST00000465835.1_5'UTR	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	837					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AACTGATGGGCGACTGGGACA	0.453								Direct reversal of damage					T	100022891	C	T	100022891	3	4	592	1	0	0	0	0	1	0	0	0	13327	768	27	1	1277	1	REV1	2	100022891	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2273166	100022891	143176482	93	49331											
IL18R1	8809	broad.mit.edu	37	chr2	103013337	103013337	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtcttgcctgttctttcCgagtcttaatcttcagaaac	9	15	7	10	1	5	1	1	0	4	1	6	3	6	1	2	0	2	1	2	0	3	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:103013337C>T	ENST00000409599.1	+	12	1973	c.1617C>T	c.(1615-1617)tcC>tcT	p.S539S	IL18R1_ENST00000233957.1_Silent_p.S539S			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	539					innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CTGTTCTTTCCGAGTCTTAAT	0.413													T	103013337	C	T	103013337	2	4	592	1	0	0	0	0	0	0	0	1	7705	639	23	1		1	IL18R1	2	103013337	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2990446	103013337	140186036	94	49332											
RANBP2	5903	broad.mit.edu	37	chr2	109383056	109383056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccagtagttcaaatgcccGaaaaagtagaacttgtaaca	18	8	7	8	1	1	1	1	0	0	1	1	2	1	1	2	0	4	4	2	0	8	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:109383056G>A	ENST00000283195.6	+	20	6187	c.6061G>A	c.(6061-6063)Gaa>Aaa	p.E2021K		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2021	RanBD1 2.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TCAAATGCCCGAAAAAGTAGA	0.388													A	109383056	G	A	109383056	3	1	592	1	0	0	0	0	1	0	0	0	13116	1059	37	1	6139	1	RANBP2	2	109383056	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6369719	109383056	133816317	95	49333											
POLR1B	84172	broad.mit.edu	37	chr2	113322007	113322007	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctaccctgtcctgctggaCggtgtcatggttggctgggt	3	13	15	10	1	1	0	1	0	0	0	2	1	2	1	2	5	3	4	2	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:113322007C>T	ENST00000263331.5	+	10	2257	c.1677C>T	c.(1675-1677)gaC>gaT	p.D559D	POLR1B_ENST00000417433.2_Silent_p.D503D|POLR1B_ENST00000537335.1_Silent_p.D348D|POLR1B_ENST00000541869.1_Silent_p.D597D|POLR1B_ENST00000409894.3_Intron	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	559					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TCCTGCTGGACGGTGTCATGG	0.502													T	113322007	C	T	113322007	2	4	592	1	0	0	0	0	0	0	0	1	12287	535	19	1		1	POLR1B	2	113322007	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3938951	113322007	129877366	96	49334											
EN1	2019	broad.mit.edu	37	chr2	119600797	119600799	+	In_Frame_Del	DEL	TTC	TTC	-																															gccgcttgtcctccttctcgTtcttcttcttcttcagcttc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:119600797_119600799delTTC	ENST00000295206.6	-	2	1404_1406	c.894_896delGAA	c.(892-897)aagaac>aac	p.K298del		NM_001426.3	NP_001417.3	Q05925	HME1_HUMAN	engrailed homeobox 1	298					skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	9						CTCCTTCTCGTTCTTCTTCTTCT	0.68													-	119600799	TTC	-	119600797	7	5	592	1	0	1	0	1	0	0	0	0	5150	1725	60	0	286	0	EN1	2	119600797	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	6278790	119600797	123598576	97	49335											
TMEM177	80775	broad.mit.edu	37	chr2	120439264	120439264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacacccagcgggaacatcGtccccagacacttgttccga	11	7	8	15	3	0	1	0	0	0	1	3	3	2	2	4	1	3	1	4	1	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:120439264G>A	ENST00000424086.1	+	2	1308	c.835G>A	c.(835-837)Gtc>Atc	p.V279I	TMEM177_ENST00000496203.1_Intron|TMEM177_ENST00000272521.6_Missense_Mutation_p.V279I|TMEM177_ENST00000409951.1_Intron|TMEM177_ENST00000401466.1_Missense_Mutation_p.V279I	NM_001105198.1	NP_001098668.1	Q53S58	TM177_HUMAN	transmembrane protein 177	279						integral to membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	13	Colorectal(110;0.196)					CGGGAACATCGTCCCCAGACA	0.582													A	120439264	G	A	120439264	3	1	592	1	0	0	0	0	1	0	0	0	16194	1145	40	1	837	1	TMEM177	2	120439264	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	838467	120439264	122760109	98	49336											
POTEF	728378	broad.mit.edu	37	chr2	130872806	130872806	+	Frame_Shift_Del	DEL	T	T	-																															cctttatcagagctgtcctcTttttgttgtcaaggacatta																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:130872806delT	ENST00000357462.5	-	2	710	c.617delA	c.(616-618)aagfs	p.K206fs	POTEF_ENST00000361163.4_Frame_Shift_Del_p.K206fs|POTEF_ENST00000360967.5_Frame_Shift_Del_p.K206fs|POTEF_ENST00000409914.2_Frame_Shift_Del_p.K206fs			A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	206						cell cortex	ATP binding	p.K206R(2)		breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						AGCTGTCCTCTTTTTGTTGTC	0.403													-	130872806	T	-	130872806	7	5	592	1	0	1	0	1	0	0	0	0	12342	1609	56	0	2666	0	POTEF	2	130872806	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	10433542	130872806	112326567	99	49337											
POTEE	445582	broad.mit.edu	37	chr2	132021077	132021078	+	Frame_Shift_Ins	INS	-	-	A																															tggaggatattgaaagtgtgINSaaaaaaaagaatgataatct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:132021077_132021078insA	ENST00000356920.5	+	15	2143_2144	c.2049_2050insA	c.(2050-2052)aaafs	p.K684fs	PLEKHB2_ENST00000404460.1_Intron|POTEE_ENST00000358087.5_3'UTR|PLEKHB2_ENST00000303908.3_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	684							ATP binding										TTGAAAGTGTGAAAAAAAAGAA	0.416													A	132021078	-	A	132021077	7	5	592	1	0	1	1	0	0	0	0	0	12341	1277	45	0	2107	0	POTEE	2	132021077	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	1148271	132021077	111178296	100	49338											
R3HDM1	23518	broad.mit.edu	37	chr2	136481617	136481617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaagatccggtggctcCgggacccccagtcccaacca	8	4	11	18	3	0	1	0	0	0	1	3	2	3	2	7	3	1	1	7	3	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:136481617C>T	ENST00000264160.4	+	26	3425	c.3055C>T	c.(3055-3057)Cgg>Tgg	p.R1019W	R3HDM1_ENST00000410054.1_Missense_Mutation_p.R964W|R3HDM1_ENST00000329971.3_Missense_Mutation_p.R890W|R3HDM1_ENST00000409606.1_Missense_Mutation_p.R1020W|R3HDM1_ENST00000409478.1_Missense_Mutation_p.R891W	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	1019							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCGGTGGCTCCGGGACCCCCA	0.542													T	136481617	C	T	136481617	3	4	592	1	0	0	0	0	1	0	0	0	12975	643	23	1	3149	1	R3HDM1	2	136481617	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4460540	136481617	106717756	101	49339											
LRP1B	53353	broad.mit.edu	37	chr2	141816539	141816539	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatatcagtcccattaaatcGgtttatccttacgatattgt	12	16	5	8	2	1	0	1	0	0	0	4	1	3	0	2	1	1	1	2	1	7	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:141816539G>A	ENST00000389484.3	-	9	2292	c.1321C>T	c.(1321-1323)Cga>Tga	p.R441*		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	441					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCATTAAATCGGTTTATCCTT	0.328										TSP Lung(27;0.18)			A	141816539	G	A	141816539	4	1	592	1	0	0	0	0	0	1	0	0	9025	1124	39	1	12810	1	LRP1B	2	141816539	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5334922	141816539	101382834	102	49340											
LRP2	4036	broad.mit.edu	37	chr2	170022532	170022532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgattgttgtcacaccGgaaacggtttggtgaattac	10	11	12	8	3	1	1	1	1	0	0	1	3	1	2	1	3	3	3	1	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170022532G>A	ENST00000263816.3	-	62	11953	c.11668C>T	c.(11668-11670)Cgg>Tgg	p.R3890W		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3890	LDL-receptor class A 35.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TTGTCACACCGGAAACGGTTT	0.388													A	170022532	G	A	170022532	3	1	592	1	0	0	0	0	1	0	0	0	9026	1115	39	1	2371	1	LRP2	2	170022532	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28205993	170022532	73176841	103	49341											
LRP2	4036	broad.mit.edu	37	chr2	170060607	170060607	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgggagagcaaatttgtGgtcattgcaatctgacctga	10	11	13	7	0	2	3	1	2	1	1	2	4	2	3	1	3	2	3	1	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:170060607G>A	ENST00000263816.3	-	42	8175	c.7890C>T	c.(7888-7890)acC>acT	p.T2630T		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2630					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GCAAATTTGTGGTCATTGCAA	0.448													A	170060607	G	A	170060607	2	1	592	1	0	0	0	0	0	0	0	1	9026	1335	47	2		2	LRP2	2	170060607	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	38075	170060607	73138766	104	49342											
TTN	7273	broad.mit.edu	37	chr2	179412628	179412628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttactttgggggcaggaCgaccactgattggtacgtca	9	11	13	8	2	1	1	1	1	0	0	1	3	1	2	1	4	2	3	1	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179412628C>T	ENST00000589042.1	-	339	93949	c.93725G>A	c.(93724-93726)cGt>cAt	p.R31242H	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R22302H|TTN_ENST00000460472.2_Missense_Mutation_p.R22177H|TTN_ENST00000342175.6_Missense_Mutation_p.R22369H|TTN_ENST00000591111.1_Missense_Mutation_p.R29601H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R28674H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29601	Fibronectin type-III 127.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGGGCAGGACGACCACTGAT	0.448													T	179412628	C	T	179412628	3	4	592	1	0	0	0	0	1	0	0	0	16837	536	19	1	14350	1	TTN	2	179412628	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9352021	179412628	63786745	105	49343											
TTN	7273	broad.mit.edu	37	chr2	179430304	179430304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcattataagccttgacaCggaactgatattcttgtcca	11	14	6	10	1	2	2	1	2	2	0	4	3	3	3	2	1	2	0	2	1	4	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179430304C>T	ENST00000589042.1	-	326	80779	c.80555G>A	c.(80554-80556)cGt>cAt	p.R26852H	TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R17912H|TTN_ENST00000460472.2_Missense_Mutation_p.R17787H|TTN_ENST00000342175.6_Missense_Mutation_p.R17979H|TTN_ENST00000591111.1_Missense_Mutation_p.R25211H|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R24284H	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25211	Fibronectin type-III 95.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTTGACACGGAACTGATA	0.418													T	179430304	C	T	179430304	3	4	592	1	0	0	0	0	1	0	0	0	16837	536	19	1	27572	1	TTN	2	179430304	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	17676	179430304	63769069	106	49344											
TTN	7273	broad.mit.edu	37	chr2	179598102	179598102	+	Frame_Shift_Del	DEL	T	T	-																															tttttaaaacttattcggtaTtttttactggcgaccaaggg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179598102delT	ENST00000589042.1	-	54	16142	c.15918delA	c.(15916-15918)aaafs	p.K5306fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000591111.1_Frame_Shift_Del_p.K4989fs|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.K4062fs	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4989	Ig-like 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTATTCGGTATTTTTTACTGG	0.468													-	179598102	T	-	179598102	7	5	592	1	0	1	0	1	0	0	0	0	16837	1490	52	0	88847	0	TTN	2	179598102	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	167798	179598102	63601271	107	49345											
TTN	7273	broad.mit.edu	37	chr2	179604439	179604439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacctgaaaaagaatcCatttcttcttgcaaacttgt	13	14	6	8	0	2	3	0	2	2	1	3	3	3	3	2	0	3	1	2	0	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:179604439C>A	ENST00000589042.1	-	48	13745	c.13521G>T	c.(13519-13521)atG>atT	p.M4507I	TTN_ENST00000359218.5_Missense_Mutation_p.M4269I|TTN_ENST00000460472.2_Missense_Mutation_p.M4144I|TTN_ENST00000342175.6_Missense_Mutation_p.M4336I|TTN_ENST00000591111.1_Missense_Mutation_p.M4190I|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342992.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4190	Ig-like 25.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAAAAGAATCCATTTCTTCTT	0.388													A	179604439	C	A	179604439	3	1	592	1	0	0	0	0	1	0	0	0	16837	594	21	4	91268	4	TTN	2	179604439	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6337	179604439	63594934	108	49346											
HECW2	57520	broad.mit.edu	37	chr2	197183524	197183524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgcacacggattcctgcGacccttcggcagggccactg	7	7	12	15	3	0	0	0	0	0	0	2	2	1	1	3	3	2	2	3	3	0	2	rs139251909		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:197183524G>A	ENST00000260983.3	-	9	2272	c.2090C>T	c.(2089-2091)tCg>tTg	p.S697L	HECW2_ENST00000409111.1_Missense_Mutation_p.S341L	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						GGATTCCTGCGACCCTTCGGC	0.612													A	197183524	G	A	197183524	3	1	592	1	0	0	0	0	1	0	0	0	7098	1059	37	1	2712	1	HECW2	2	197183524	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	17579085	197183524	46015849	109	49347											
BZW1	9689	broad.mit.edu	37	chr2	201683504	201683504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttatatgtcaaggaggagatGaaaaaaaacaacatcccaga	20	7	8	6	0	1	3	1	1	0	2	2	5	2	4	1	2	2	0	1	2	8	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:201683504G>A	ENST00000409600.1	+	9	1301	c.846G>A	c.(844-846)atG>atA	p.M282I	BZW1_ENST00000409226.1_Missense_Mutation_p.M286I|BZW1_ENST00000452790.2_Missense_Mutation_p.M314I	NM_001207067.1|NM_014670.3	NP_001193996.1|NP_055485.2	Q7L1Q6	BZW1_HUMAN	basic leucine zipper and W2 domains 1	282	W2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	protein binding			breast(1)|kidney(2)|large_intestine(1)|lung(2)	6						AGGAGGAGATGAAAAAAAACA	0.373													A	201683504	G	A	201683504	3	1	592	1	0	0	0	0	1	0	0	0	1588	1290	45	2	876	2	BZW1	2	201683504	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4499980	201683504	41515869	110	49348											
CD28	940	broad.mit.edu	37	chr2	204599561	204599561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actacatgaacatgactcccCgccgccccgggcccacccgc	8	4	8	21	4	0	2	0	2	0	0	1	2	1	2	7	1	2	0	7	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:204599561C>T	ENST00000324106.8	+	4	738	c.589C>T	c.(589-591)Cgc>Tgc	p.R197C	CD28_ENST00000374481.3_Missense_Mutation_p.R113C|CD28_ENST00000374478.4_Missense_Mutation_p.R78C|CD28_ENST00000458610.2_Missense_Mutation_p.R211C	NM_001243077.1|NM_006139.3	NP_001230006.1|NP_006130.1	P10747	CD28_HUMAN	CD28 molecule						cell surface receptor linked signaling pathway|cytokine biosynthetic process|humoral immune response|positive regulation of anti-apoptosis|positive regulation of interleukin-2 biosynthetic process|positive regulation of mitosis|positive regulation of translation|positive regulation of viral genome replication|regulation of defense response to virus by virus|regulatory T cell differentiation|T cell costimulation|viral reproduction	cytosol|external side of plasma membrane|integral to plasma membrane	coreceptor activity|protease binding|SH3/SH2 adaptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13						CATGACTCCCCGCCGCCCCGG	0.597													T	204599561	C	T	204599561	3	4	592	1	0	0	0	0	1	0	0	0	3023	652	23	1	603	1	CD28	2	204599561	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2916057	204599561	38599812	111	49349											
ABCA12	26154	broad.mit.edu	37	chr2	215809802	215809802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagaggtgccgtttcgacttCggatccatgccagagctcgg	7	9	13	12	4	0	2	0	0	0	2	4	4	1	3	3	3	3	2	3	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:215809802C>T	ENST00000272895.7	-	49	7485	c.7266G>A	c.(7264-7266)ccG>ccA	p.P2422P	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Silent_p.P2104P	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2422	ABC transporter 2.				cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity	p.P2422P(1)		NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		GTTTCGACTTCGGATCCATGC	0.363													T	215809802	C	T	215809802	2	4	592	1	0	0	0	0	0	0	0	1	30	871	31	1		1	ABCA12	2	215809802	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11210241	215809802	27389571	112	49350											
ATIC	471	broad.mit.edu	37	chr2	216209588	216209588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtgtgctacgccaagaaCgggcaggtaagtgggctgtt	8	10	15	8	2	1	1	0	0	1	1	1	1	1	1	1	3	3	5	1	3	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:216209588C>T	ENST00000435675.1	+	12	1702	c.1311C>T	c.(1309-1311)aaC>aaT	p.N437N	ATIC_ENST00000540518.1_Silent_p.N379N|ATIC_ENST00000236959.9_Silent_p.N438N			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	438					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	ACGCCAAGAACGGGCAGGTAA	0.488			T	ALK	ALCL								T	216209588	C	T	216209588	2	4	592	1	0	0	0	0	0	0	0	1	1110	535	19	1		1	ATIC	2	216209588	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	399786	216209588	26989785	113	49351											
SPEG	10290	broad.mit.edu	37	chr2	220334066	220334066	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggttccacaatggccaccGcatccagagcagcgacgacc	10	5	10	16	3	0	1	0	0	0	1	2	3	2	1	5	2	2	3	5	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:220334066G>A	ENST00000312358.7	+	13	3812	c.3680G>A	c.(3679-3681)cGc>cAc	p.R1227H	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1227	Ig-like 6.				muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		AATGGCCACCGCATCCAGAGC	0.642													A	220334066	G	A	220334066	3	1	592	1	0	0	0	0	1	0	0	0	15132	1087	38	1	3742	1	SPEG	2	220334066	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4124478	220334066	22865307	114	49352											
CCL20	6364	broad.mit.edu	37	chr2	228678691	228678691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctactccacctctgcGgcgaatcagaaggtaagtgt	9	10	11	11	2	2	1	1	0	1	1	3	2	3	1	2	2	4	3	2	2	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:228678691G>A	ENST00000409189.3	+	1	134	c.64G>A	c.(64-66)Ggc>Agc	p.G22S	CCL20_ENST00000358813.4_Missense_Mutation_p.G22S	NM_001130046.1|NM_004591.2	NP_001123518.1|NP_004582.1	P78556	CCL20_HUMAN	chemokine (C-C motif) ligand 20	22					cell-cell signaling|chemotaxis|defense response to bacterium|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity			cervix(1)|lung(2)	3		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;7.3e-11)|all cancers(144;4.13e-08)|Lung(261;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.0115)		CCACCTCTGCGGCGAATCAGA	0.473													A	228678691	G	A	228678691	3	1	592	1	0	0	0	0	1	0	0	0	2920	1116	39	1	66	1	CCL20	2	228678691	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8344625	228678691	14520682	115	49353											
HTR2B	3357	broad.mit.edu	37	chr2	231973400	231973401	+	Frame_Shift_Del	DEL	TT	TT	-																															ttccatgtttcttgaaaaacTtagagttctctgccattgga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:231973400_231973401delTT	ENST00000258400.3	-	4	1788_1789	c.1276_1277delAA	c.(1276-1278)aagfs	p.K426fs	PSMD1_ENST00000409643.1_Intron|PSMD1_ENST00000488354.1_3'UTR|PSMD1_ENST00000373635.4_Intron|PSMD1_ENST00000308696.6_Intron	NM_000867.4	NP_000858.3	P41595	5HT2B_HUMAN	5-hydroxytryptamine (serotonin) receptor 2B, G protein-coupled	426					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|calcium-mediated signaling|cardiac muscle hypertrophy|cellular response to calcium ion|cellular response to temperature stimulus|cGMP biosynthetic process|embryonic morphogenesis|ERK1 and ERK2 cascade|G-protein coupled receptor internalization|heart morphogenesis|intestine smooth muscle contraction|negative regulation of apoptosis|negative regulation of autophagy|neural crest cell migration|phosphatidylinositol 3-kinase cascade|phosphatidylinositol biosynthetic process|phosphorylation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of cytokine secretion|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAP kinase activity|positive regulation of nitric-oxide synthase activity|protein kinase C signaling cascade|regulation of behavior|release of sequestered calcium ion into cytosol|response to drug|vasoconstriction	cytoplasm|integral to membrane|plasma membrane	calcium channel activity|drug binding|G-protein alpha-subunit binding|phosphatidylinositol phospholipase C activity|Ras GTPase activator activity|serotonin binding|serotonin receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|urinary_tract(1)	11		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;4.48e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0141)	Chlorprothixene(DB01239)|Eletriptan(DB00216)|Fenfluramine(DB00574)|Methotrimeprazine(DB01403)|Minaprine(DB00805)|Quetiapine(DB01224)|Sumatriptan(DB00669)|Tegaserod(DB01079)|Triflupromazine(DB00508)	CTTGAAAAACTTAGAGTTCTCT	0.426													-	231973401	TT	-	231973400	7	5	592	1	0	1	0	1	0	0	0	0	7500	1609	56	0	172	0	HTR2B	2	231973400	Frame_Shift_Del	DEL	TT	TCGA-HT-8564-01A-11D-2395-08	3294709	231973400	11225973	116	49354											
DIS3L2	129563	broad.mit.edu	37	chr2	233128091	233128091	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccgtcttgaatctccacGgaattgccaagcagttacgc	10	9	10	12	3	2	1	0	1	2	0	3	2	2	2	3	2	3	2	3	2	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233128091G>A	ENST00000325385.7	+	13	1876	c.1600G>A	c.(1600-1602)Gga>Aga	p.G534R	DIS3L2_ENST00000409307.1_Missense_Mutation_p.G534R|DIS3L2_ENST00000273009.6_Intron	NM_152383.4	NP_689596.4	Q8IYB7	DI3L2_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like 2	534							exonuclease activity|ribonuclease activity|RNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GAATCTCCACGGAATTGCCAA	0.522													A	233128091	G	A	233128091	3	1	592	1	0	0	0	0	1	0	0	0	4576	1117	39	1	1646	1	DIS3L2	2	233128091	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1154691	233128091	10071282	117	49355											
CHRNG	1146	broad.mit.edu	37	chr2	233405401	233405401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccaccatggtgtggcggccGgatatcgtgctggagaacaa	9	8	14	10	3	0	1	0	0	0	1	2	3	1	2	3	5	2	1	3	5	3	1	rs149931943		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:233405401G>A	ENST00000389494.3	+	4	351	c.330G>A	c.(328-330)ccG>ccA	p.P110P	CHRNG_ENST00000389492.3_Silent_p.P110P	NM_005199.4	NP_005190.4	P07510	ACHG_HUMAN	cholinergic receptor, nicotinic, gamma (muscle)	110					muscle contraction	cell junction|postsynaptic membrane	acetylcholine receptor activity			breast(2)|endometrium(3)|large_intestine(4)|lung(12)|upper_aerodigestive_tract(1)	22		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;6.39e-16)|BRCA - Breast invasive adenocarcinoma(100;0.00079)|LUSC - Lung squamous cell carcinoma(224;0.00757)|Lung(119;0.0086)		TGTGGCGGCCGGATATCGTGC	0.642													A	233405401	G	A	233405401	2	1	592	1	0	0	0	0	0	0	0	1	3426	1103	39	1		1	CHRNG	2	233405401	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	277310	233405401	9793972	118	49356											
DGKD	8527	broad.mit.edu	37	chr2	234371341	234371341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaataacttcagagctctgcGcagtgagacggagctgctgc	10	8	13	10	2	2	2	1	1	1	2	2	5	2	3	0	1	6	4	0	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234371341G>A	ENST00000264057.2	+	26	3158	c.3146G>A	c.(3145-3147)cGc>cAc	p.R1049H	DGKD_ENST00000409813.3_Missense_Mutation_p.R1005H	NM_152879.2	NP_690618.2	Q16760	DGKD_HUMAN	diacylglycerol kinase, delta 130kDa	1049					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell growth|diacylglycerol metabolic process|endocytosis|epidermal growth factor receptor signaling pathway|multicellular organismal development|platelet activation|protein homooligomerization|protein transport|response to organic substance|second-messenger-mediated signaling	cytoplasm|cytoplasmic membrane-bounded vesicle|plasma membrane	ATP binding|diacylglycerol binding|diacylglycerol kinase activity|metal ion binding|protein heterodimerization activity|protein homodimerization activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(13)|lung(15)|ovary(1)|pancreas(1)|skin(1)	38		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0538)		Epithelial(121;1.31e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000416)|Lung(119;0.00285)|LUSC - Lung squamous cell carcinoma(224;0.00655)	Phosphatidylserine(DB00144)	AGAGCTCTGCGCAGTGAGACG	0.597													A	234371341	G	A	234371341	3	1	592	1	0	0	0	0	1	0	0	0	4506	1087	38	1	3272	1	DGKD	2	234371341	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965940	234371341	8828032	119	49357											
UGT1A1	54658	broad.mit.edu	37	chr2	234526381	234526381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagggtggaccagccccAttcccctatgtgtttctctg	6	11	10	14	0	1	0	0	0	1	0	3	1	2	1	5	2	1	2	5	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:234526381A>G	ENST00000373450.4	+	1	91	c.28A>G	c.(28-30)Att>Gtt	p.I10V		NM_019076.4	NP_061949.3	P22309	UD11_HUMAN							bilirubin conjugation|digestion|estrogen metabolic process|flavone metabolic process|heme catabolic process	endoplasmic reticulum membrane|microsome	enzyme binding|enzyme inhibitor activity|glucuronosyltransferase activity|protein heterodimerization activity|protein homodimerization activity|retinoic acid binding|steroid binding			breast(1)|central_nervous_system(2)|endometrium(7)|large_intestine(5)|lung(9)|skin(4)|urinary_tract(2)	30		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;4.1e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000435)|Lung(119;0.00211)|LUSC - Lung squamous cell carcinoma(224;0.0054)	Abacavir(DB01048)|Adenine(DB00173)|Diclofenac(DB00586)|Estradiol(DB00783)|Ezetimibe(DB00973)|Irinotecan(DB00762)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Propofol(DB00818)|Rifampin(DB01045)|Troglitazone(DB00197)	GACCAGCCCCATTCCCCTATG	0.572													G	234526381	A	G	234526381	3	3	592	1	0	0	0	0	1	0	0	0	17046	217	8	3		3	UGT1A1	2	234526381	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	155040	234526381	8672992	120	49358											
HDAC4	9759	broad.mit.edu	37	chr2	239975226	239975226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtctcggcttcttcgttctCgcaagtctgagcctcgatca	5	13	9	14	5	5	1	1	1	4	0	9	2	5	1	1	1	1	3	1	1	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:239975226C>T	ENST00000345617.3	-	26	3936	c.3145G>A	c.(3145-3147)Gag>Aag	p.E1049K	HDAC4_ENST00000543185.1_Missense_Mutation_p.E633K	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1049	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		TCTTCGTTCTCGCAAGTCTGA	0.662													T	239975226	C	T	239975226	3	4	592	1	0	0	0	0	1	0	0	0	7064	893	31	1	117	1	HDAC4	2	239975226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5448845	239975226	3224147	121	49359											
ANKMY1	51281	broad.mit.edu	37	chr2	241468876	241468876	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacgtcctggctgccatcGgggtaggtctcgacacctgg	5	8	13	15	3	1	0	0	0	1	0	4	1	2	0	4	5	1	2	4	5	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241468876G>A	ENST00000391987.1	-	5	630	c.264C>T	c.(262-264)ccC>ccT	p.P88P	ANKMY1_ENST00000462004.1_Intron|ANKMY1_ENST00000536462.1_Intron|ANKMY1_ENST00000373320.4_Intron|ANKMY1_ENST00000272972.3_Silent_p.P88P|ANKMY1_ENST00000401804.1_Silent_p.P177P|ANKMY1_ENST00000373318.2_Intron|ANKMY1_ENST00000403283.1_Intron|ANKMY1_ENST00000405523.3_Intron|ANKMY1_ENST00000361678.4_Intron|ANKMY1_ENST00000405002.1_Intron|ANKMY1_ENST00000406958.1_Intron	NM_001282771.1	NP_001269700.1	Q9P2S6	ANKY1_HUMAN	ankyrin repeat and MYND domain containing 1	88							zinc ion binding			central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(2)	30		all_epithelial(40;2.79e-15)|Breast(86;2.41e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0335)|Lung NSC(271;0.106)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.03e-30)|all cancers(36;4.78e-28)|OV - Ovarian serous cystadenocarcinoma(60;1.45e-14)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;7.8e-06)|Lung(119;0.00271)|LUSC - Lung squamous cell carcinoma(224;0.01)|Colorectal(34;0.0101)|COAD - Colon adenocarcinoma(134;0.0476)		GGCTGCCATCGGGGTAGGTCT	0.602													A	241468876	G	A	241468876	2	1	592	1	0	0	0	0	0	0	0	1	634	1103	39	1		1	ANKMY1	2	241468876	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1493650	241468876	1730497	122	49360											
GPR35	2859	broad.mit.edu	37	chr2	241570136	241570136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctggagacgatccgtcGcgccctgtacataaccagca	9	7	9	16	4	0	1	0	0	0	1	3	3	2	1	5	1	3	2	5	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241570136G>A	ENST00000319838.5	+	6	1709	c.767G>A	c.(766-768)cGc>cAc	p.R256H	GPR35_ENST00000438013.2_Missense_Mutation_p.R287H|GPR35_ENST00000403859.1_Missense_Mutation_p.R256H|GPR35_ENST00000407714.1_Missense_Mutation_p.R256H|GPR35_ENST00000430267.1_Missense_Mutation_p.R256H	NM_001195381.1	NP_001182310.1	Q9HC97	GPR35_HUMAN	G protein-coupled receptor 35	256						integral to plasma membrane	G-protein coupled receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(1)|lung(7)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	17		all_epithelial(40;7.49e-12)|Breast(86;0.000148)|Renal(207;0.00571)|Ovarian(221;0.104)|all_neural(83;0.107)|all_hematologic(139;0.182)|all_lung(227;0.186)|Melanoma(123;0.238)		Epithelial(32;5.29e-32)|all cancers(36;1.38e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.13e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.02e-06)|Lung(119;0.00163)|Colorectal(34;0.00463)|LUSC - Lung squamous cell carcinoma(224;0.008)|COAD - Colon adenocarcinoma(134;0.031)		ACGATCCGTCGCGCCCTGTAC	0.622													A	241570136	G	A	241570136	3	1	592	1	0	0	0	0	1	0	0	0	6744	1087	38	1	769	1	GPR35	2	241570136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101260	241570136	1629237	123	49361											
KIF1A	547	broad.mit.edu	37	chr2	241680733	241680733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaagtagaccagcaggtcGtacttgcagtggcagggtcc	9	8	14	10	2	0	1	0	0	0	1	3	2	1	1	2	3	3	5	2	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:241680733G>A	ENST00000498729.2	-	35	3948	c.3702C>T	c.(3700-3702)taC>taT	p.Y1234Y	KIF1A_ENST00000320389.7_Silent_p.Y1133Y	NM_001244008.1	NP_001230937.1	Q12756	KIF1A_HUMAN	kinesin family member 1A	1133					anterograde axon cargo transport	cytoplasm|microtubule|nucleus	ATP binding|microtubule motor activity			NS(1)|central_nervous_system(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(25)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	66		all_epithelial(40;1.35e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0295)|all_neural(83;0.0459)|Lung NSC(271;0.0942)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;6.12e-30)|all cancers(36;3.46e-27)|OV - Ovarian serous cystadenocarcinoma(60;1.38e-14)|Kidney(56;5e-09)|KIRC - Kidney renal clear cell carcinoma(57;5e-08)|BRCA - Breast invasive adenocarcinoma(100;5.87e-06)|Lung(119;0.00209)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Colorectal(34;0.0282)|COAD - Colon adenocarcinoma(134;0.176)		CCAGCAGGTCGTACTTGCAGT	0.662													A	241680733	G	A	241680733	2	1	592	1	0	0	0	0	0	0	0	1	8341	1140	40	1		1	KIF1A	2	241680733	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	110597	241680733	1518640	124	49362											
ANO7	50636	broad.mit.edu	37	chr2	242148714	242148714	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacaggccggccggctgttCgaccacggcggcaccgtgtt	5	6	14	16	6	0	0	0	0	0	0	1	1	0	0	5	5	0	4	5	5	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242148714C>T	ENST00000274979.8	+	12	1357	c.1254C>T	c.(1252-1254)ttC>ttT	p.F418F	ANO7_ENST00000402430.3_Silent_p.F417F	NM_001001891.3	NP_001001891.2	Q6IWH7	ANO7_HUMAN	anoctamin 7	418						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						GCCGGCTGTTCGACCACGGCG	0.647													T	242148714	C	T	242148714	2	4	592	1	0	0	0	0	0	0	0	1	702	883	31	1		1	ANO7	2	242148714	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	467981	242148714	1050659	125	49363											
HDLBP	3069	broad.mit.edu	37	chr2	242169651	242169651	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagtgacgcagttggggtCtggggctccgctctgtggga	5	9	17	10	2	2	1	0	1	2	0	3	2	3	2	1	5	0	4	1	5	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242169651C>A	ENST00000391975.1	-	26	3735	c.3508G>T	c.(3508-3510)Gac>Tac	p.D1170Y	HDLBP_ENST00000310931.4_Missense_Mutation_p.D1170Y|HDLBP_ENST00000391976.2_Missense_Mutation_p.D1170Y|HDLBP_ENST00000427183.2_Missense_Mutation_p.D1137Y	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1170	KH 14.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CAGTTGGGGTCTGGGGCTCCG	0.557													A	242169651	C	A	242169651	3	1	592	1	0	0	0	0	1	0	0	0	7080	913	32	4	310	4	HDLBP	2	242169651	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	20937	242169651	1029722	126	49364											
STK25	10494	broad.mit.edu	37	chr2	242437037	242437037	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccccatcctcacctctccGaagacgggccggaccagcgt	8	5	10	18	4	2	1	1	0	1	1	4	3	3	2	7	2	2	0	7	2	1	0	rs67879108		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr2:242437037G>A	ENST00000316586.4	-	10	1447	c.1098C>T	c.(1096-1098)ttC>ttT	p.F366F	STK25_ENST00000535007.1_Silent_p.F272F|STK25_ENST00000403346.3_Silent_p.F366F|STK25_ENST00000478403.1_5'UTR|STK25_ENST00000405883.3_Silent_p.F289F|STK25_ENST00000401869.1_Silent_p.F366F|STK25_ENST00000543554.1_Silent_p.F272F|STK25_ENST00000405585.1_Silent_p.F289F	NM_001271977.1|NM_001271978.1|NM_001282308.1	NP_001258906.1|NP_001258907.1|NP_001269237.1	O00506	STK25_HUMAN	serine/threonine kinase 25	366					response to oxidative stress|signal transduction	Golgi apparatus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|kidney(1)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10		all_cancers(19;2.09e-34)|all_epithelial(40;2.09e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Ovarian(221;0.069)|Lung NSC(271;0.0886)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.2)		Epithelial(32;8.24e-34)|all cancers(36;3.46e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.1e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		TCACCTCTCCGAAGACGGGCC	0.657													A	242437037	G	A	242437037	2	1	592	1	0	0	0	0	0	0	0	1	15390	1049	37	1		1	STK25	2	242437037	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	267386	242437037	762336	127	49365											
NR2C2	7182	broad.mit.edu	37	chr3	15065637	15065637	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatagacaaacaggtcttctTgatccagggatgcttgtgaa	13	11	10	7	0	2	3	0	2	2	1	3	4	3	4	1	2	2	1	1	2	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:15065637T>A	ENST00000425241.1	+	7	1082	c.720T>A	c.(718-720)ctT>ctA	p.L240L	NR2C2_ENST00000323373.6_Silent_p.L259L|NR2C2_ENST00000393102.3_Silent_p.L240L|NR2C2_ENST00000406272.2_Silent_p.L240L			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	240					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CAGGTCTTCTTGATCCAGGGA	0.438													A	15065637	T	A	15065637	2	1	592	1	0	0	0	0	0	0	0	1	10699	1799	63	5		5	NR2C2	3	15065637	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08		15065637	182956793	128	49366											
DCLK3	85443	broad.mit.edu	37	chr3	36779958	36779958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgccttgcatcctgcaacttCgctgcagctcttgggggtct	4	13	11	13	1	2	0	0	0	2	0	4	0	3	0	2	2	6	5	2	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:36779958C>T	ENST00000416516.2	-	2	683	c.193G>A	c.(193-195)Gaa>Aaa	p.E65K		NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	65						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						CCTGCAACTTCGCTGCAGCTC	0.612													T	36779958	C	T	36779958	3	4	592	1	0	0	0	0	1	0	0	0	4327	893	31	1	1769	1	DCLK3	3	36779958	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21714321	36779958	161242472	129	49367											
MLH1	4292	broad.mit.edu	37	chr3	37038172	37038172	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcctgaagttgattcAgatccaagacaatggcaccg	12	7	13	9	1	1	4	1	2	0	2	2	5	2	5	3	3	0	2	3	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:37038172A>C	ENST00000231790.2	+	2	395	c.179A>C	c.(178-180)cAg>cCg	p.Q60P	MLH1_ENST00000492474.1_3'UTR|MLH1_ENST00000435176.1_5'UTR|MLH1_ENST00000455445.2_5'UTR|MLH1_ENST00000539477.1_5'UTR|MLH1_ENST00000536378.1_5'UTR|MLH1_ENST00000458205.2_5'UTR	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1	60					mismatch repair|somatic hypermutation of immunoglobulin genes	chiasma|MutLalpha complex|MutLbeta complex|synaptonemal complex	ATP binding|ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						AAGTTGATTCAGATCCAAGAC	0.413		1	"D, Mis, N, F, S"		"colorectal, endometrial, ovarian, CNS"	"colorectal, endometrial, ovarian, CNS"		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	37038172	A	C	37038172	3	2	592	1	0	0	0	0	1	0	0	0	9692	188	7	5	185	5	MLH1	3	37038172	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	258214	37038172	160984258	130	49368											
PRSS50	29122	broad.mit.edu	37	chr3	46759103	46759103	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcagtggacagcgcccccGgggcttcccctgcgccccag	5	4	13	19	3	0	0	0	0	0	0	1	1	1	1	6	3	3	2	6	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:46759103G>A	ENST00000460241.1	-	7	1801	c.131C>T	c.(130-132)cCg>cTg	p.P44L	PRSS50_ENST00000315170.7_Missense_Mutation_p.P44L			Q9UI38	TSP50_HUMAN	protease, serine, 50	44					proteolysis	endoplasmic reticulum	serine-type endopeptidase activity|threonine-type endopeptidase activity	p.P44L(1)		endometrium(2)|kidney(2)|large_intestine(1)|lung(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	11						CAGCGCCCCCGGGGCTTCCCC	0.706													A	46759103	G	A	46759103	3	1	592	1	0	0	0	0	1	0	0	0	12716	1116	39	1	1046	1	PRSS50	3	46759103	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9720931	46759103	151263327	131	49369											
FBXW12	285231	broad.mit.edu	37	chr3	48422276	48422276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacataaattatgtgccagcGcctgctggaccccaaaggtg	11	8	10	12	1	0	0	0	0	0	0	0	1	0	1	4	2	3	1	4	2	4	2	rs144607752	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:48422276G>A	ENST00000296438.5	+	8	1045	c.859G>A	c.(859-861)Gcc>Acc	p.A287T	FBXW12_ENST00000436231.1_Missense_Mutation_p.A130T|FBXW12_ENST00000415155.1_Missense_Mutation_p.A217T|FBXW12_ENST00000445170.1_Missense_Mutation_p.A268T|FBXW12_ENST00000468158.1_3'UTR	NM_207102.2	NP_996985.2	Q6X9E4	FBW12_HUMAN	F-box and WD repeat domain containing 12	287										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATGTGCCAGCGCCTGCTGGAC	0.443													A	48422276	G	A	48422276	3	1	592	1	0	0	0	0	1	0	0	0	5814	1087	38	1	922	1	FBXW12	3	48422276	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1663173	48422276	149600154	132	49370											
BSN	8927	broad.mit.edu	37	chr3	49699985	49699985	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcccattgcgtggtttcCgacagcgaaggtaatggcag	9	10	13	9	3	0	0	0	0	0	0	2	3	2	0	2	3	2	3	2	3	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:49699985C>T	ENST00000296452.4	+	6	10821	c.10707C>T	c.(10705-10707)tcC>tcT	p.S3569S		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3569					synaptic transmission	cell junction|cytoplasm|cytoskeleton|nucleus|synaptosome	metal ion binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		GCGTGGTTTCCGACAGCGAAG	0.597													T	49699985	C	T	49699985	2	4	592	1	0	0	0	0	0	0	0	1	1539	639	23	1		1	BSN	3	49699985	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1277709	49699985	148322445	133	49371											
SEMA3F	6405	broad.mit.edu	37	chr3	50224060	50224060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagccaacaagaatgccGtggagtctgtgcagtatggc	12	8	12	9	1	1	1	0	0	1	1	1	2	1	2	2	2	4	2	2	2	6	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50224060G>A	ENST00000002829.3	+	18	2312	c.1828G>A	c.(1828-1830)Gtg>Atg	p.V610M	SEMA3F_ENST00000434342.1_Missense_Mutation_p.V579M|SEMA3F_ENST00000413852.1_Missense_Mutation_p.V511M	NM_004186.3	NP_004177.3	Q13275	SEM3F_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F	610	Ig-like C2-type.				axon guidance	extracellular space|membrane	chemorepellent activity|receptor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	17				BRCA - Breast invasive adenocarcinoma(193;0.00013)|KIRC - Kidney renal clear cell carcinoma(197;0.00599)|Kidney(197;0.00688)		CAAGAATGCCGTGGAGTCTGT	0.627													A	50224060	G	A	50224060	3	1	592	1	0	0	0	0	1	0	0	0	14122	1145	40	1	1894	1	SEMA3F	3	50224060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	524075	50224060	147798370	134	49372											
SLC38A3	10991	broad.mit.edu	37	chr3	50255683	50255683	+	RNA	DEL	C	C	-																															cagcttgtcaccaacacccaCccccccacttccccacagcc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50255683delC	ENST00000420502.1	+	0	1088							Q99624	S38A3_HUMAN	solute carrier family 38, member 3						cellular nitrogen compound metabolic process|sodium ion transport	integral to plasma membrane	antiporter activity|L-alanine transmembrane transporter activity|L-asparagine transmembrane transporter activity|L-glutamine transmembrane transporter activity|L-histidine transmembrane transporter activity|symporter activity			breast(1)|cervix(1)|endometrium(1)|lung(3)	6				BRCA - Breast invasive adenocarcinoma(193;0.000275)|KIRC - Kidney renal clear cell carcinoma(197;0.00548)|Kidney(197;0.00615)	L-Asparagine(DB00174)|L-Glutamine(DB00130)|L-Histidine(DB00117)	CCAACACCCACCCCCCCACTT	0.557													-	50255683	C	-	50255683	6	5	592	0	1	1	0	1	0	0	0	0	14699	522	18	0		0	SLC38A3	3	50255683	RNA	DEL	C	TCGA-HT-8564-01A-11D-2395-08	31623	50255683	147766747	135	49373											
IFRD2	7866	broad.mit.edu	37	chr3	50326252	50326252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggagtgcagcacggcGcggaaagtagagcgctggcg	9	4	17	11	6	0	1	0	0	0	1	1	3	1	3	1	4	3	4	1	4	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:50326252G>A	ENST00000436390.1	-	12	1499	c.1002C>T	c.(1000-1002)cgC>cgT	p.R334R	IFRD2_ENST00000336089.4_Silent_p.R500R|IFRD2_ENST00000417626.2_Silent_p.R334R|IFRD2_ENST00000429673.2_Silent_p.R398R			Q12894	IFRD2_HUMAN	interferon-related developmental regulator 2	398							binding			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GCAGCACGGCGCGGAAAGTAG	0.602													A	50326252	G	A	50326252	2	1	592	1	0	0	0	0	0	0	0	1	7612	1074	38	1		1	IFRD2	3	50326252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	70569	50326252	147696178	136	49374											
DNAH1	25981	broad.mit.edu	37	chr3	52380763	52380763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgacatggtctggggtgaCgacttaattaacagccccta	11	10	11	9	1	1	2	0	2	1	0	1	4	1	2	2	3	2	0	2	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52380763C>T	ENST00000420323.2	+	11	2193	c.1932C>T	c.(1930-1932)gaC>gaT	p.D644D		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	644	Stem (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)		TCTGGGGTGACGACTTAATTA	0.602													T	52380763	C	T	52380763	2	4	592	1	0	0	0	0	0	0	0	1	4636	535	19	1		1	DNAH1	3	52380763	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2054511	52380763	145641667	137	49375											
DNAH1	25981	broad.mit.edu	37	chr3	52407044	52407044	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtggatggaccacggCggctggtacgaccgcaagat	9	5	15	12	5	0	1	0	0	0	1	0	4	0	3	3	5	1	3	3	5	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:52407044C>T	ENST00000420323.2	+	44	7221	c.6960C>T	c.(6958-6960)ggC>ggT	p.G2320G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	2320	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)		TGGACCACGGCGGCTGGTACG	0.612													T	52407044	C	T	52407044	2	4	592	1	0	0	0	0	0	0	0	1	4636	755	27	1		1	DNAH1	3	52407044	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	26281	52407044	145615386	138	49376											
FLNB	2317	broad.mit.edu	37	chr3	58108831	58108831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaataggtgaaggcccaCggtcccggcctcgaaggtgg	9	6	14	12	3	1	1	1	1	0	0	3	2	2	1	3	6	0	0	3	6	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58108831C>T	ENST00000357272.4	+	21	3303	c.3138C>T	c.(3136-3138)caC>caT	p.H1046H	FLNB_ENST00000429972.2_Silent_p.H1046H|FLNB_ENST00000490882.1_Silent_p.H1046H|FLNB_ENST00000493452.1_Silent_p.H877H|FLNB_ENST00000358537.3_Silent_p.H1046H|FLNB_ENST00000419752.2_Silent_p.H877H|FLNB_ENST00000295956.4_Silent_p.H1046H|FLNB_ENST00000348383.5_Silent_p.H1046H			O75369	FLNB_HUMAN	filamin B, beta	1046					actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TGAAGGCCCACGGTCCCGGCC	0.542													T	58108831	C	T	58108831	2	4	592	1	0	0	0	0	0	0	0	1	5983	535	19	1		1	FLNB	3	58108831	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5701787	58108831	139913599	139	49377											
FAM107A	11170	broad.mit.edu	37	chr3	58552905	58552905	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggacagccctggaggatgCgtggtccctgctgggtgccc	5	7	17	12	1	0	0	0	0	0	0	1	4	1	3	3	5	4	1	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:58552905C>T	ENST00000464064.1	-	3	441	c.357G>A	c.(355-357)acG>acA	p.T119T	FAM107A_ENST00000360997.2_Intron|FAM107A_ENST00000447756.2_Intron|FAM107A_ENST00000474531.1_Intron|FAM107A_ENST00000394481.1_Intron			O95990	F107A_HUMAN	family with sequence similarity 107, member A	119					regulation of cell growth	nucleus	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13				BRCA - Breast invasive adenocarcinoma(55;0.000189)|Kidney(10;0.000536)|KIRC - Kidney renal clear cell carcinoma(10;0.000716)|OV - Ovarian serous cystadenocarcinoma(275;0.154)		CTGGAGGATGCGTGGTCCCTG	0.617													T	58552905	C	T	58552905	2	4	592	1	0	0	0	0	0	0	0	1	5434	783	27	1		1	FAM107A	3	58552905	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	444074	58552905	139469525	140	49378											
ADAMTS9	56999	broad.mit.edu	37	chr3	64536656	64536656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcttgctcacgtcacagCgtgccccatgcacctcgttt	5	10	9	17	4	2	0	2	0	0	0	3	0	2	0	4	0	4	4	4	0	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:64536656C>T	ENST00000498707.1	-	31	5123	c.4781G>A	c.(4780-4782)cGc>cAc	p.R1594H	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.R1566H	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1594	TSP type-1 13.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CACGTCACAGCGTGCCCCATG	0.552													T	64536656	C	T	64536656	3	4	592	1	0	0	0	0	1	0	0	0	273	768	27	1	1062	1	ADAMTS9	3	64536656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5983751	64536656	133485774	141	49379											
ZBTB20	26137	broad.mit.edu	37	chr3	114058003	114058003	+	Frame_Shift_Del	DEL	G	G	-																															cacctgggggtgtgcctgcaGggggggtcccattgctggca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:114058003delG	ENST00000462705.1	-	12	2677	c.1856delC	c.(1855-1857)cctfs	p.P619fs	ZBTB20_ENST00000464560.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000474710.1_Frame_Shift_Del_p.P692fs|ZBTB20_ENST00000481632.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000393785.2_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000471418.1_Frame_Shift_Del_p.P619fs|ZBTB20_ENST00000357258.3_Frame_Shift_Del_p.P619fs	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	692					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P619fs*43(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TGTGCCTGCAGGGGGGGTCCC	0.632													-	114058003	G	-	114058003	7	5	592	1	0	1	0	1	0	0	0	0	17630	1000	35	0	154	0	ZBTB20	3	114058003	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	49521347	114058003	83964427	142	49380											
ADCY5	111	broad.mit.edu	37	chr3	123036943	123036943	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgccacataggcaccaaatcGgtcgtctacctgcttggagt	9	9	10	13	3	1	0	0	0	1	0	3	1	1	1	3	3	2	2	3	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:123036943G>A	ENST00000462833.1	-	11	3490	c.2278C>T	c.(2278-2280)Cga>Tga	p.R760*	ADCY5_ENST00000491190.1_Nonsense_Mutation_p.R393*|ADCY5_ENST00000309879.5_Nonsense_Mutation_p.R410*	NM_183357.2	NP_899200.1	O95622	ADCY5_HUMAN	adenylate cyclase 5	760					activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(22)|ovary(5)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(114;0.0342)		GCACCAAATCGGTCGTCTACC	0.602													A	123036943	G	A	123036943	4	1	592	1	0	0	0	0	0	1	0	0	297	1124	39	1	1551	1	ADCY5	3	123036943	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8978940	123036943	74985487	143	49381											
UROC1	131669	broad.mit.edu	37	chr3	126216983	126216983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccccgatgtgcacacccagCggaaaggcccaaatccctgg	10	4	10	17	2	0	0	0	0	0	0	1	2	1	1	5	3	2	1	5	3	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:126216983C>T	ENST00000290868.2	-	14	1402	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H	UROC1_ENST00000383579.3_Missense_Mutation_p.R510H	NM_144639.2	NP_653240.1	Q96N76	HUTU_HUMAN	urocanate hydratase 1	450			R -> C (in UROD; loss of activity).		histidine catabolic process	cytosol	urocanate hydratase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(1)|skin(1)	39				GBM - Glioblastoma multiforme(114;0.17)		GCACACCCAGCGGAAAGGCCC	0.627													T	126216983	C	T	126216983	3	4	592	1	0	0	0	0	1	0	0	0	17130	768	27	1	709	1	UROC1	3	126216983	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3180040	126216983	71805447	144	49382											
ACAD11	84129	broad.mit.edu	37	chr3	132361582	132361582	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtatcactgcagtacagtAtaggcttgggaacggggaat	13	9	13	6	1	1	0	1	0	0	0	1	2	1	2	0	4	3	5	0	4	7	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132361582A>G	ENST00000264990.6	-	3	1285	c.314T>C	c.(313-315)aTa>aCa	p.I105T	ACAD11_ENST00000489991.1_Intron|ACAD11_ENST00000545291.1_5'UTR|ACAD11_ENST00000481970.2_Missense_Mutation_p.I105T|ACAD11_ENST00000355458.3_Missense_Mutation_p.I105T	NM_032169.4	NP_115545			acyl-CoA dehydrogenase family, member 11											breast(2)|endometrium(6)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	36						GCAGTACAGTATAGGCTTGGG	0.328													G	132361582	A	G	132361582	3	3	592	1	0	0	0	0	1	0	0	0	109	449	16	3	2100	3	ACAD11	3	132361582	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	6144599	132361582	65660848	145	49383											
NPHP3	27031	broad.mit.edu	37	chr3	132403500	132403502	+	In_Frame_Del	DEL	TTC	TTC	-																															tctaaagctctttcataaagTtcttctgctttatcatactg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:132403500_132403502delTTC	ENST00000337331.5	-	24	3552_3554	c.3466_3468delGAA	c.(3466-3468)gaadel	p.E1156del	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1156					maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding			NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TTTCATAAAGTTCTTCTGCTTTA	0.419													-	132403502	TTC	-	132403500	7	5	592	1	0	1	0	1	0	0	0	0	10656	1722	60	0	540	0	NPHP3	3	132403500	In_Frame_Del	DEL	TTC	TCGA-HT-8564-01A-11D-2395-08	41918	132403500	65618930	146	49384											
ZBTB38	253461	broad.mit.edu	37	chr3	141163946	141163946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgagtgaagtgttcgatgacGcaagtgaccaggattccact	11	10	12	8	2	0	4	0	4	0	0	2	6	1	5	2	1	0	2	2	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141163946G>A	ENST00000514251.1	+	4	2995	c.2716G>A	c.(2716-2718)Gca>Aca	p.A906T	ZBTB38_ENST00000321464.5_Missense_Mutation_p.A907T|ZBTB38_ENST00000441582.2_Missense_Mutation_p.A906T			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	906					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						GTTCGATGACGCAAGTGACCA	0.502													A	141163946	G	A	141163946	3	1	592	1	0	0	0	0	1	0	0	0	17640	1087	38	1	2718	1	ZBTB38	3	141163946	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8760446	141163946	56858484	147	49385											
ZBTB38	253461	broad.mit.edu	37	chr3	141164403	141164403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacttacagaaacatgaacGcatccacctgggcttgaagg	15	7	9	10	1	0	3	0	2	0	1	1	3	1	3	2	2	4	2	2	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:141164403G>A	ENST00000514251.1	+	4	3452	c.3173G>A	c.(3172-3174)cGc>cAc	p.R1058H	ZBTB38_ENST00000321464.5_Missense_Mutation_p.R1059H|ZBTB38_ENST00000441582.2_Missense_Mutation_p.R1058H			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	1058					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AAACATGAACGCATCCACCTG	0.478													A	141164403	G	A	141164403	3	1	592	1	0	0	0	0	1	0	0	0	17640	1087	38	1	3175	1	ZBTB38	3	141164403	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	457	141164403	56858027	148	49386											
AADACL2	344752	broad.mit.edu	37	chr3	151461914	151461914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacttcctgaatagatggaCggcaaacacgcttgatgctg	11	10	11	9	2	0	4	0	3	0	1	1	5	1	5	1	2	2	3	1	2	3	3	rs145856421		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:151461914C>T	ENST00000356517.3	+	3	504	c.395C>T	c.(394-396)aCg>aTg	p.T132M		NM_207365.3	NP_997248.2	Q6P093	ADCL2_HUMAN	arylacetamide deacetylase-like 2	132						extracellular region|integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(13)|skin(2)	24			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)			AATAGATGGACGGCAAACACG	0.358													T	151461914	C	T	151461914	3	4	592	1	0	0	0	0	1	0	0	0	11	536	19	1	405	1	AADACL2	3	151461914	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10297511	151461914	46560516	149	49387											
MCCC1	56922	broad.mit.edu	37	chr3	182740306	182740306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgcagtctccctcgctgtAaagattaccaaggacttgga	11	10	10	10	1	1	1	0	0	1	1	3	3	1	3	2	2	2	3	2	2	4	3	rs143892743		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr3:182740306A>G	ENST00000492597.1	-	15	2143	c.1441T>C	c.(1441-1443)Tac>Cac	p.Y481H	MCCC1_ENST00000489909.1_5'UTR|MCCC1_ENST00000539926.1_3'UTR|MCCC1_ENST00000265594.4_Missense_Mutation_p.Y590H			Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	590	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	CCCTCGCTGTAAAGATTACCA	0.313													G	182740306	A	G	182740306	3	3	592	1	0	0	0	0	1	0	0	0	9449	362	13	3	425	3	MCCC1	3	182740306	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	31278392	182740306	15282124	150	49388											
DGKQ	1609	broad.mit.edu	37	chr4	960969	960969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcccgcggcagagcccGgatgacccaggcctctggcg	5	4	16	16	4	1	2	0	1	1	1	1	3	1	3	4	5	1	1	4	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:960969G>A	ENST00000273814.3	-	9	1241	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W		NM_001347.3	NP_001338.2	P52824	DGKQ_HUMAN	diacylglycerol kinase, theta 110kDa	390					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|platelet activation|protein kinase C signaling cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to ATP|thrombin receptor signaling pathway	cytoskeleton|cytosol|nuclear speck|plasma membrane	activating transcription factor binding|ATP binding|diacylglycerol kinase activity|kinase binding|metal ion binding|phospholipase binding			breast(1)|endometrium(2)|kidney(2)|lung(2)|prostate(2)	9			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GGCAGAGCCCGGATGACCCAG	0.711													A	960969	G	A	960969	3	1	592	1	0	0	0	0	1	0	0	0	4512	1115	39	1	1720	1	DGKQ	4	960969	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		960969	190193307	151	49389											
ZFYVE28	57732	broad.mit.edu	37	chr4	2306942	2306942	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccgcctgggctgccctcCgctcctggcctgtgagctgg	1	9	13	18	2	0	1	0	1	0	0	3	1	3	1	7	3	2	3	7	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2306942C>T	ENST00000290974.2	-	8	1464	c.1125G>A	c.(1123-1125)gcG>gcA	p.A375A	RP11-478C1.7_ENST00000510632.1_RNA|ZFYVE28_ENST00000511071.1_Silent_p.A345A|ZFYVE28_ENST00000515312.1_Silent_p.A305A	NM_020972.2	NP_066023.2	Q9HCC9	LST2_HUMAN	zinc finger, FYVE domain containing 28	375					negative regulation of epidermal growth factor receptor activity	cytosol|early endosome membrane	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(4)	31						GGCTGCCCTCCGCTCCTGGCC	0.667													T	2306942	C	T	2306942	2	4	592	1	0	0	0	0	0	0	0	1	17771	639	23	1		1	ZFYVE28	4	2306942	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1345973	2306942	188847334	152	49390											
NOP14	8602	broad.mit.edu	37	chr4	2943380	2943380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagaggccccatgatggCgtggaaggatggcagggacc	9	6	18	8	1	0	2	0	1	0	1	0	6	0	5	3	7	0	1	3	7	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:2943380C>T	ENST00000416614.2	-	15	2193	c.2128G>A	c.(2128-2130)Gcc>Acc	p.A710T	NOP14-AS1_ENST00000505731.1_RNA|NOP14-AS1_ENST00000503709.1_RNA|NOP14_ENST00000507120.1_5'UTR|NOP14_ENST00000398071.4_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000512712.2_RNA|NOP14_ENST00000502735.1_Missense_Mutation_p.A710T|NOP14_ENST00000314262.6_Missense_Mutation_p.A710T|NOP14-AS1_ENST00000507702.1_RNA|NOP14-AS1_ENST00000515194.1_RNA			P78316	NOP14_HUMAN	NOP14 nucleolar protein	710					endonucleolytic cleavage in 5'-ETS of tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage in ITS1 to separate SSU-rRNA from 5.8S rRNA and LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|endonucleolytic cleavage to generate mature 5'-end of SSU-rRNA from (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	mitochondrion|Noc4p-Nop14p complex|small-subunit processome	snoRNA binding			NS(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	30						CCCATGATGGCGTGGAAGGAT	0.662													T	2943380	C	T	2943380	3	4	592	1	0	0	0	0	1	0	0	0	10612	768	27	1	461	1	NOP14	4	2943380	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	636438	2943380	188210896	153	49391											
GRK4	2868	broad.mit.edu	37	chr4	3037185	3037185	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggggtgaagcagcaccccGtgttcaaggacatcaacttc	10	8	11	12	1	2	1	2	1	0	0	3	2	2	2	2	3	3	3	2	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:3037185G>A	ENST00000398052.4	+	13	1685	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	GRK4_ENST00000509545.1_Intron|GRK4_ENST00000398051.4_Missense_Mutation_p.V416M|GRK4_ENST00000345167.6_Missense_Mutation_p.V416M|GRK4_ENST00000504933.1_Missense_Mutation_p.V448M	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	448	Protein kinase.					cell cortex	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GCAGCACCCCGTGTTCAAGGA	0.582													A	3037185	G	A	3037185	3	1	592	1	0	0	0	0	1	0	0	0	6846	1145	40	1	1392	1	GRK4	4	3037185	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	93805	3037185	188117091	154	49392											
MSX1	4487	broad.mit.edu	37	chr4	4864532	4864532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgctggagcgcaagttcCgccagaagcagtacctgtcc	8	7	13	13	3	0	1	0	0	0	1	2	2	2	2	4	2	3	5	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:4864532C>T	ENST00000382723.4	+	2	808	c.574C>T	c.(574-576)Cgc>Tgc	p.R192C	MSX1_ENST00000468421.1_3'UTR	NM_002448.3	NP_002439.2	P28360	MSX1_HUMAN	msh homeobox 1	186					apoptotic nuclear change|face morphogenesis|negative regulation of cell growth|odontogenesis of dentine-containing tooth|positive regulation of apoptosis|protein localization to nucleus|protein stabilization	nucleus	p53 binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	11				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAAGTTCCGCCAGAAGCA	0.657													T	4864532	C	T	4864532	3	4	592	1	0	0	0	0	1	0	0	0	9971	652	23	1	580	1	MSX1	4	4864532	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1827347	4864532	186289744	155	49393											
STK32B	55351	broad.mit.edu	37	chr4	5418644	5418644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagggcttcctccatggctgGcaccaagccctacatgggtg	8	8	12	13	0	0	0	0	0	0	0	2	0	2	0	4	4	2	3	4	4	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:5418644G>A	ENST00000282908.5	+	6	967	c.545G>A	c.(544-546)gGc>gAc	p.G182D	STK32B_ENST00000510398.1_Missense_Mutation_p.G135D|STK32B_ENST00000512636.1_Intron	NM_018401.1	NP_060871.1	Q9NY57	ST32B_HUMAN	serine/threonine kinase 32B	182	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	39						TCCATGGCTGGCACCAAGCCC	0.493													A	5418644	G	A	5418644	3	1	592	1	0	0	0	0	1	0	0	0	15394	1203	42	2	567	2	STK32B	4	5418644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	554112	5418644	185735632	156	49394											
JAKMIP1	152789	broad.mit.edu	37	chr4	6052396	6052397	+	Frame_Shift_Del	DEL	CT	CT	-																															ggttaaatgctggcgacctcCtctctctctcctggggaaaa																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6052396_6052397delCT	ENST00000409021.3	-	14	2265_2266	c.1816_1817delAG	c.(1816-1818)aggfs	p.R607fs	JAKMIP1_ENST00000409371.3_Frame_Shift_Del_p.R422fs	NM_001099433.1	NP_001092903.1	Q96N16	JKIP1_HUMAN	janus kinase and microtubule interacting protein 1	379	Mediates interaction with TYK2 and GABBR1.				protein transport	cytoplasm|membrane|microtubule|peripheral to membrane of membrane fraction|ribonucleoprotein complex	GABA receptor binding|RNA binding			NS(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGGCGACCTCCTCTCTCTCTCC	0.485													-	6052397	CT	-	6052396	7	5	592	1	0	1	0	1	0	0	0	0	7998	681	24	0	710	0	JAKMIP1	4	6052396	Frame_Shift_Del	DEL	CT	TCGA-HT-8564-01A-11D-2395-08	633752	6052396	185101880	157	49395											
MAN2B2	23324	broad.mit.edu	37	chr4	6588894	6588894	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagccatgcaggaggcccGggtgagtggtgtgccgcgtc	5	6	19	11	3	0	1	0	1	0	0	1	2	0	2	3	5	3	2	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:6588894G>A	ENST00000285599.3	+	4	599	c.563G>A	c.(562-564)cGg>cAg	p.R188Q	MAN2B2_ENST00000504248.1_Splice_Site_p.R188Q	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	188					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						CAGGAGGCCCGGGTGAGTGGT	0.642													A	6588894	G	A	6588894	5	1	592	1	0	0	0	0	0	0	1	0	9292	1130	39	1	577	1	MAN2B2	4	6588894	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	536498	6588894	184565382	158	49396											
HTRA3	94031	broad.mit.edu	37	chr4	8293224	8293224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catcgtcagcactgcccagcGggagggcagggagctgggcc	7	4	17	13	2	1	0	1	0	0	0	2	2	1	2	2	4	4	3	2	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:8293224G>A	ENST00000307358.2	+	4	1040	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	HTRA3_ENST00000382512.3_Missense_Mutation_p.R279Q	NM_053044.3	NP_444272.1	P83110	HTRA3_HUMAN	HtrA serine peptidase 3	279	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|prostate(1)|urinary_tract(1)	18						ACTGCCCAGCGGGAGGGCAGG	0.657													A	8293224	G	A	8293224	3	1	592	1	0	0	0	0	1	0	0	0	7513	1116	39	1	850	1	HTRA3	4	8293224	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1704330	8293224	182861052	159	49397											
DRD5	1816	broad.mit.edu	37	chr4	9783925	9783925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtcagaccttttcgtggCgctgctggtcatgccctgga	4	12	13	12	3	2	1	2	0	0	1	3	2	2	2	2	3	2	2	2	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:9783925C>T	ENST00000304374.2	+	1	668	c.272C>T	c.(271-273)gCg>gTg	p.A91V		NM_000798.4	NP_000789.1	P21918	DRD5_HUMAN	dopamine receptor D5	91					activation of adenylate cyclase activity by dopamine receptor signaling pathway|activation of phospholipase C activity by dopamine receptor signaling pathway|cellular calcium ion homeostasis|negative regulation of NAD(P)H oxidase activity|reactive oxygen species metabolic process|synaptic transmission, dopaminergic	integral to plasma membrane				NS(2)|endometrium(8)|kidney(4)|large_intestine(8)|lung(22)|prostate(7)|skin(3)|stomach(2)|urinary_tract(1)	57					Apomorphine(DB00714)|Carphenazine(DB01038)|Fenoldopam(DB00800)|Zuclopenthixol(DB01624)	CTTTTCGTGGCGCTGCTGGTC	0.632													T	9783925	C	T	9783925	3	4	592	1	0	0	0	0	1	0	0	0	4799	768	27	1	274	1	DRD5	4	9783925	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1490701	9783925	181370351	160	49398											
PACRGL	133015	broad.mit.edu	37	chr4	20715162	20715162	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagcatctgcttacaagCgtaagtactgcaaagattag	14	10	9	8	1	1	2	0	1	1	1	1	2	1	2	0	0	6	5	0	0	7	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:20715162C>T	ENST00000360916.5	+	7	1000	c.609C>T	c.(607-609)agC>agT	p.S203S	PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000538990.1_Splice_Site_p.S105S|PACRGL_ENST00000513459.1_Splice_Site_p.S150S|PACRGL_ENST00000444671.2_Splice_Site_p.S105S|PACRGL_ENST00000507634.1_Splice_Site_p.S203S|PACRGL_ENST00000503585.1_Splice_Site_p.S203S|PACRGL_ENST00000295290.8_Splice_Site_p.S203S|PACRGL_ENST00000502374.1_Splice_Site_p.S150S	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	230							binding			endometrium(2)|lung(7)|prostate(1)	10						TGCTTACAAGCGTAAGTACTG	0.373													T	20715162	C	T	20715162	5	4	592	1	0	0	0	0	0	0	1	0	11447	782	27	1	631	1	PACRGL	4	20715162	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10931237	20715162	170439114	161	49399											
TMEM156	80008	broad.mit.edu	37	chr4	38990512	38990512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctggccttcaagtattttgCggatagtgaggatgatcaaa	11	13	11	6	1	3	2	2	2	1	0	3	4	3	4	1	3	1	1	1	3	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:38990512C>T	ENST00000381938.3	-	4	805	c.698G>A	c.(697-699)cGc>cAc	p.R233H		NM_024943.1	NP_079219.1	Q8N614	TM156_HUMAN	transmembrane protein 156	233						integral to membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|stomach(1)	10						AAGTATTTTGCGGATAGTGAG	0.358													T	38990512	C	T	38990512	3	4	592	1	0	0	0	0	1	0	0	0	16173	768	27	1	204	1	TMEM156	4	38990512	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	18275350	38990512	152163764	162	49400											
STAP1	26228	broad.mit.edu	37	chr4	68447189	68447189	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtactgaaccctatgccagCgtaagtgcacaatgaactgc	12	9	9	11	1	0	2	0	2	0	0	0	2	0	2	2	0	7	3	2	0	6	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:68447189C>T	ENST00000265404.2	+	5	612	c.530C>T	c.(529-531)gCa>gTa	p.A177V	STAP1_ENST00000396225.1_Splice_Site_p.A177V	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	177	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CCTATGCCAGCGTAAGTGCAC	0.393													T	68447189	C	T	68447189	5	4	592	1	0	0	0	0	0	0	1	0	15348	782	27	1	548	1	STAP1	4	68447189	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	29456677	68447189	122707087	163	49401											
UGT2B11	10720	broad.mit.edu	37	chr4	70079942	70079942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggagactgtacacaaaccGtatgttaagtagcgcagcca	13	7	11	10	3	0	1	0	0	0	1	0	2	0	1	2	1	4	5	2	1	5	4	rs148268917		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:70079942G>A	ENST00000446444.1	-	1	507	c.499C>T	c.(499-501)Cgg>Tgg	p.R167W	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	167					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	p.R167R(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TACACAAACCGTATGTTAAGT	0.418													A	70079942	G	A	70079942	3	1	592	1	0	0	0	0	1	0	0	0	17059	1144	40	1	1114	1	UGT2B11	4	70079942	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1632753	70079942	121074334	164	49402											
SHROOM3	57619	broad.mit.edu	37	chr4	77662039	77662039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagagggagcccgagtggCgggacaggcccggctcgccc	7	2	18	14	4	0	1	0	0	0	1	1	5	0	3	3	5	1	1	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:77662039C>T	ENST00000296043.6	+	5	3666	c.2713C>T	c.(2713-2715)Cgg>Tgg	p.R905W		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	905					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GCCCGAGTGGCGGGACAGGCC	0.711													T	77662039	C	T	77662039	3	4	592	1	0	0	0	0	1	0	0	0	14389	759	27	1	2731	1	SHROOM3	4	77662039	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7582097	77662039	113492237	165	49403											
BMP2K	55589	broad.mit.edu	37	chr4	79793824	79793824	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctagctcaacatcagccGtctcaacaacaggcatcacc	13	7	6	15	1	4	0	4	0	1	0	5	0	4	0	2	1	6	3	2	1	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:79793824G>A	ENST00000335016.5	+	13	1831	c.1665G>A	c.(1663-1665)ccG>ccA	p.P555P	BMP2K_ENST00000502871.1_Silent_p.P555P	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	555	Gln/His-rich.					nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AACATCAGCCGTCTCAACAAC	0.443													A	79793824	G	A	79793824	2	1	592	1	0	0	0	0	0	0	0	1	1466	1132	40	1		1	BMP2K	4	79793824	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2131785	79793824	111360452	166	49404											
PRKG2	5593	broad.mit.edu	37	chr4	82026998	82026998	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaatcaaatcctcaggtcGtcgtgttatcttcctgggaa	9	12	9	11	3	3	0	2	0	1	0	7	2	5	1	3	2	0	1	3	2	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:82026998G>A	ENST00000395578.1	-	16	2148	c.2032C>T	c.(2032-2034)Cga>Tga	p.R678*	PRKG2_ENST00000545647.1_Nonsense_Mutation_p.R258*|PRKG2_ENST00000264399.1_Nonsense_Mutation_p.R678*|PRKG2_ENST00000418486.2_Nonsense_Mutation_p.R649*|PRKG2_ENST00000509169.1_5'UTR			Q13237	KGP2_HUMAN	protein kinase, cGMP-dependent, type II	678	Protein kinase.				platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			NS(1)|breast(4)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	37						TCCTCAGGTCGTCGTGTTATC	0.423													A	82026998	G	A	82026998	4	1	592	1	0	0	0	0	0	1	0	0	12609	1153	40	1	272	1	PRKG2	4	82026998	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2233174	82026998	109127278	167	49405											
EGF	1950	broad.mit.edu	37	chr4	110915913	110915913	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tactccaccccctcacctcaGggaagatgaccaccactatt	11	8	5	17	0	2	2	2	1	0	1	3	3	3	3	6	1	1	0	6	1	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:110915913G>T	ENST00000265171.5	+	20	3327	c.2882G>T	c.(2881-2883)aGg>aTg	p.R961M	EGF_ENST00000503392.1_Missense_Mutation_p.R920M|EGF_ENST00000509793.1_Missense_Mutation_p.R919M	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	961					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	CCTCACCTCAGGGAAGATGAC	0.428													T	110915913	G	T	110915913	3	4	592	1	0	0	0	0	1	0	0	0	5001	1000	35	4	2960	4	EGF	4	110915913	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28888915	110915913	80238363	168	49406											
QRFPR	84109	broad.mit.edu	37	chr4	122301462	122301462	+	Splice_Site	DEL	C	C	-																															ggagcggggcgcgactcttaCcccccagccagttgtcggaa																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122301462delC	ENST00000394427.2	-	1	752		c.e1+1		QRFPR_ENST00000334383.5_Splice_Site	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor							plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						GCGACTCTTACCCCCCAGCCA	0.542													-	122301462	C	-	122301462	8	5	592	1	0	1	0	1	0	0	1	0	12966	521	18	0	978	0	QRFPR	4	122301462	Splice_Site	DEL	C	TCGA-HT-8564-01A-11D-2395-08	11385549	122301462	68852814	169	49407											
TRPC3	7222	broad.mit.edu	37	chr4	122835949	122835949	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtaccctgctgcaaggtgCgatccagtagccaatggcca	11	7	11	12	1	0	0	0	0	0	0	1	1	1	0	4	2	5	4	4	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:122835949C>T	ENST00000264811.5	-	3	1526	c.1108G>A	c.(1108-1110)Gca>Aca	p.A370T	TRPC3_ENST00000379645.3_Missense_Mutation_p.A443T|TRPC3_ENST00000513531.1_Intron	NM_003305.2	NP_003296.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	358					axon guidance|phototransduction|platelet activation	integral to plasma membrane	protein binding|store-operated calcium channel activity			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CTGCAAGGTGCGATCCAGTAG	0.483													T	122835949	C	T	122835949	3	4	592	1	0	0	0	0	1	0	0	0	16680	768	27	1	1474	1	TRPC3	4	122835949	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	534487	122835949	68318327	170	49408											
SLC25A31	83447	broad.mit.edu	37	chr4	128651877	128651877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcgaagcagatcagcccCgaggcgcggtacaaaggcat	11	5	13	12	5	1	1	1	0	0	1	3	3	1	1	2	3	3	3	2	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:128651877C>T	ENST00000281154.4	+	1	345	c.177C>T	c.(175-177)ccC>ccT	p.P59P		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	59					transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity			NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						AGATCAGCCCCGAGGCGCGGT	0.701													T	128651877	C	T	128651877	2	4	592	1	0	0	0	0	0	0	0	1	14589	639	23	1		1	SLC25A31	4	128651877	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5815928	128651877	62502399	171	49409											
LRBA	987	broad.mit.edu	37	chr4	151829999	151829999	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcgctttctgctttgaatTtaaatgtaccctaagaatta	11	16	7	7	1	1	2	0	1	1	1	2	2	1	2	1	1	2	3	1	1	7	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151829999T>G	ENST00000535741.1	-	10	1645	c.1172A>C	c.(1171-1173)aAa>aCa	p.K391T	LRBA_ENST00000510413.1_Missense_Mutation_p.K391T|LRBA_ENST00000357115.3_Missense_Mutation_p.K391T|LRBA_ENST00000507224.1_Missense_Mutation_p.K391T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	391						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGCTTTGAATTTAAATGTACC	0.363													G	151829999	T	G	151829999	3	3	592	1	0	0	0	0	1	0	0	0	9001	1841	64	5	7615	5	LRBA	4	151829999	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	23178122	151829999	39324277	172	49410											
LRBA	987	broad.mit.edu	37	chr4	151850067	151850067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtgcagacttgaagattccGtatgcttttcttcagaatgg	10	14	10	7	1	2	4	1	1	1	3	3	4	3	4	1	1	2	3	1	1	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:151850067G>A	ENST00000535741.1	-	3	840	c.367C>T	c.(367-369)Cgg>Tgg	p.R123W	LRBA_ENST00000510413.1_Missense_Mutation_p.R123W|LRBA_ENST00000357115.3_Missense_Mutation_p.R123W|LRBA_ENST00000507224.1_Missense_Mutation_p.R123W			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	123						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGAAGATTCCGTATGCTTTTC	0.388													A	151850067	G	A	151850067	3	1	592	1	0	0	0	0	1	0	0	0	9001	1144	40	1	8448	1	LRBA	4	151850067	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20068	151850067	39304209	173	49411											
SFRP2	6423	broad.mit.edu	37	chr4	154709690	154709690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatcgaggcagacgggggCgaagagcgagcacaggaact	12	3	17	9	4	1	2	1	0	0	2	2	6	1	3	0	4	3	2	0	4	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:154709690C>T	ENST00000274063.4	-	1	582	c.298G>A	c.(298-300)Gcc>Acc	p.A100T		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	100	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				CAGACGGGGGCGAAGAGCGAG	0.647													T	154709690	C	T	154709690	3	4	592	1	0	0	0	0	1	0	0	0	14255	768	27	1	601	1	SFRP2	4	154709690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2859623	154709690	36444586	174	49412											
FGB	2244	broad.mit.edu	37	chr4	155490927	155490927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggcatgttcttcagcaCgtatgacagagacaatgacg	13	8	10	10	3	2	3	1	2	1	1	2	4	2	3	0	1	2	4	0	1	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:155490927C>T	ENST00000302068.4	+	7	1283	c.1220C>T	c.(1219-1221)aCg>aTg	p.T407M	FGB_ENST00000509493.1_Missense_Mutation_p.T188M|FGB_ENST00000502545.1_Intron	NM_005141.4	NP_005132.2	P02675	FIBB_HUMAN	fibrinogen beta chain	407	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen|soluble fraction	chaperone binding|eukaryotic cell surface binding|protein binding, bridging|receptor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(2)|lung(22)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34	all_hematologic(180;0.215)	Renal(120;0.0458)			Sucralfate(DB00364)	TTCTTCAGCACGTATGACAGA	0.423													T	155490927	C	T	155490927	3	4	592	1	0	0	0	0	1	0	0	0	5880	536	19	1	1246	1	FGB	4	155490927	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	781237	155490927	35663349	175	49413											
ACSL1	2180	broad.mit.edu	37	chr4	185724474	185724474	+	Splice_Site	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgggccctccactcacCgccacttccactgactgcat	7	8	8	18	1	1	1	1	1	0	0	3	1	3	1	5	2	1	2	5	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr4:185724474C>A	ENST00000515030.1	-	2	520	c.195G>T	c.(193-195)gcG>gcT	p.A65A	ACSL1_ENST00000513317.1_Splice_Site_p.A65A|ACSL1_ENST00000504342.1_Splice_Site_p.A65A|ACSL1_ENST00000437665.3_5'UTR|ACSL1_ENST00000281455.2_Splice_Site_p.A65A|ACSL1_ENST00000454703.2_Intron|ACSL1_ENST00000507295.1_Splice_Site_p.A65A|ACSL1_ENST00000504900.1_Splice_Site_p.A65A			P33121	ACSL1_HUMAN	acyl-CoA synthetase long-chain family member 1	65					digestion|fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|regulation of fatty acid oxidation|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|liver(1)|lung(17)|ovary(2)|prostate(1)|skin(2)	38		all_lung(41;7.57e-14)|Lung NSC(41;1.81e-13)|Colorectal(36;0.00172)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0315)|all_neural(102;0.107)|Medulloblastoma(177;0.146)		all cancers(43;1.33e-28)|Epithelial(43;5.3e-25)|OV - Ovarian serous cystadenocarcinoma(60;4.88e-11)|Colorectal(24;3.59e-06)|STAD - Stomach adenocarcinoma(60;2.72e-05)|GBM - Glioblastoma multiforme(59;2.83e-05)|BRCA - Breast invasive adenocarcinoma(30;7.66e-05)|COAD - Colon adenocarcinoma(29;0.000538)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.0419)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CTCCACTCACCGCCACTTCCA	0.557													A	185724474	C	A	185724474	5	1	592	1	0	0	0	0	0	0	1	0	177	666	23	4	1981	4	ACSL1	4	185724474	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30233547	185724474	5429802	176	49414											
CDH10	1008	broad.mit.edu	37	chr5	24491704	24491706	+	In_Frame_Del	DEL	GAG	GAG	-																															cccagtagaatgatgatgcaGaggaggatggcgatcaaggc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:24491704_24491706delGAG	ENST00000264463.4	-	11	2362_2364	c.1855_1857delCTC	c.(1855-1857)ctcdel	p.L619del	CDH10_ENST00000502921.1_5'UTR	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	619					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TGATGATGCAGAGGAGGATGGCG	0.483										HNSCC(23;0.051)			-	24491706	GAG	-	24491704	7	5	592	1	0	1	0	1	0	0	0	0	3126	929	33	0	517	0	CDH10	5	24491704	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08		24491704	156423556	177	49415											
NPR3	4883	broad.mit.edu	37	chr5	32739001	32739001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagagaggagacaaacaCgactttgaagctaagcaagc	17	5	12	7	1	0	3	0	1	0	2	0	7	0	4	0	2	4	2	0	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:32739001C>T	ENST00000265074.8	+	3	1267	c.924C>T	c.(922-924)caC>caT	p.H308H	NPR3_ENST00000415685.2_Silent_p.H92H|NPR3_ENST00000434067.2_Silent_p.H92H|NPR3_ENST00000415167.2_Silent_p.H308H	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	308					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity	p.H308H(1)		autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	GAGACAAACACGACTTTGAAG	0.428													T	32739001	C	T	32739001	2	4	592	1	0	0	0	0	0	0	0	1	10672	535	19	1		1	NPR3	5	32739001	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8247297	32739001	148176259	178	49416											
AGXT2	64902	broad.mit.edu	37	chr5	34998924	34998924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcacattgagggcgcaatgCgaaatgtctgaggagacacc	12	7	13	9	2	1	3	0	2	1	1	1	5	1	3	1	2	2	2	1	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:34998924C>T	ENST00000231420.6	-	14	1645	c.1445G>A	c.(1444-1446)cGc>cAc	p.R482H		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	482					glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGGCGCAATGCGAAATGTCTG	0.368													T	34998924	C	T	34998924	3	4	592	1	0	0	0	0	1	0	0	0	405	768	27	1	103	1	AGXT2	5	34998924	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2259923	34998924	145916336	179	49417											
CARD6	84674	broad.mit.edu	37	chr5	40854138	40854138	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accctcagtcctttcaaccaGcagcagccacacaaaaacta	15	6	4	16	0	2	0	2	0	0	0	3	0	3	0	4	0	5	2	4	0	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:40854138G>C	ENST00000254691.5	+	3	2903	c.2704G>C	c.(2704-2706)Gca>Cca	p.A902P	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	902					apoptosis|regulation of apoptosis	intracellular				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						CTTTCAACCAGCAGCAGCCAC	0.483													C	40854138	G	C	40854138	3	2	592	1	0	0	0	0	1	0	0	0	2676	971	34	4	2714	4	CARD6	5	40854138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5855214	40854138	140061122	180	49418											
C6	729	broad.mit.edu	37	chr5	41159281	41159281	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggattattgcattctcGggttctcgatctcttataag	8	15	10	8	2	3	0	0	0	3	0	6	2	3	1	0	3	1	3	0	3	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:41159281G>A	ENST00000263413.3	-	12	2023	c.1759C>T	c.(1759-1761)Cga>Tga	p.R587*	C6_ENST00000337836.5_Nonsense_Mutation_p.R587*	NM_001115131.1	NP_001108603.2	P13671	CO6_HUMAN	complement component 6	587	TSP type-1 3.				complement activation, classical pathway|cytolysis|innate immune response	membrane attack complex	protein binding			central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(7)|large_intestine(16)|liver(1)|lung(51)|ovary(3)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)	96		Breast(839;1.07e-05)|Ovarian(839;0.0228)|Lung SC(612;0.0548)|Lung NSC(810;0.128)|all_neural(839;0.157)				TTGCATTCTCGGGTTCTCGAT	0.493													A	41159281	G	A	41159281	4	1	592	1	0	0	0	0	0	1	0	0	2337	1124	39	1	1073	1	C6	5	41159281	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	305143	41159281	139755979	181	49419											
MIER3	166968	broad.mit.edu	37	chr5	56231270	56231270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttacctttctcattaccatCgtactctccaagataagggg	10	13	6	12	1	2	1	1	0	2	1	5	1	2	1	3	2	3	1	3	2	5	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:56231270C>T	ENST00000381226.3	-	7	610	c.595G>A	c.(595-597)Gat>Aat	p.D199N	MIER3_ENST00000409421.1_Missense_Mutation_p.D131N|MIER3_ENST00000381199.3_Missense_Mutation_p.D194N|MIER3_ENST00000381213.3_Missense_Mutation_p.D194N			Q7Z3K6	MIER3_HUMAN	mesoderm induction early response 1, family member 3	194	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(2)|urinary_tract(1)	19		Lung NSC(810;4.65e-05)|Prostate(74;0.0253)|Breast(144;0.0503)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;1.24e-37)		TCATTACCATCGTACTCTCCA	0.313													T	56231270	C	T	56231270	3	4	592	1	0	0	0	0	1	0	0	0	9657	884	31	1	1097	1	MIER3	5	56231270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	15071989	56231270	124683990	182	49420											
CENPK	64105	broad.mit.edu	37	chr5	64814369	64814369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctcaaggcaattccattaCgcagcagcagctcaacataa	14	8	7	12	1	2	0	2	0	1	0	4	0	3	0	1	1	5	5	1	1	5	3	rs147863579		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:64814369C>T	ENST00000396679.1	-	11	957	c.743G>A	c.(742-744)cGt>cAt	p.R248H	CENPK_ENST00000242872.3_Missense_Mutation_p.R248H|CENPK_ENST00000508421.1_Missense_Mutation_p.R218H|CENPK_ENST00000510693.1_Missense_Mutation_p.R185H|CENPK_ENST00000514814.1_Missense_Mutation_p.R248H	NM_022145.4	NP_071428.2	Q9BS16	CENPK_HUMAN	centromere protein K	248					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleoplasm				breast(1)|endometrium(1)|large_intestine(3)|lung(5)	10		Lung NSC(167;7.21e-05)|Prostate(74;0.0174)|Ovarian(174;0.186)		Lung(70;0.00466)		AATTCCATTACGCAGCAGCAG	0.353													T	64814369	C	T	64814369	3	4	592	1	0	0	0	0	1	0	0	0	3265	536	19	1	70	1	CENPK	5	64814369	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8583099	64814369	116100891	183	49421											
ERBB2IP	55914	broad.mit.edu	37	chr5	65371013	65371014	+	Frame_Shift_Ins	INS	-	-	C																															accagcctccatatacacagINSccccattgttctcctagaca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:65371013_65371014insC	ENST00000284037.5	+	23	4307_4308	c.3918_3919insC	c.(3919-3921)cccfs	p.P1307fs	ERBB2IP_ENST00000503913.1_Intron|ERBB2IP_ENST00000380938.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000380936.1_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000511297.1_Frame_Shift_Ins_p.P1262fs|ERBB2IP_ENST00000380939.2_Frame_Shift_Ins_p.P1255fs|ERBB2IP_ENST00000380935.1_Intron|ERBB2IP_ENST00000416865.2_Frame_Shift_Ins_p.P505fs|ERBB2IP_ENST00000380943.2_Frame_Shift_Ins_p.P1266fs|ERBB2IP_ENST00000508515.1_Intron|ERBB2IP_ENST00000506030.1_Frame_Shift_Ins_p.P1314fs	NM_001253697.1	NP_001240626.1	Q96RT1	LAP2_HUMAN	erbb2 interacting protein	1307					basal protein localization|cell adhesion|cell cycle|cell growth|epidermal growth factor receptor signaling pathway|establishment or maintenance of epithelial cell apical/basal polarity|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization	basement membrane|cytoplasm|hemidesmosome|nucleus	ErbB-2 class receptor binding|integrin binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(8)|lung(11)|ovary(3)|skin(2)	36		Lung NSC(167;9.45e-06)|Prostate(74;0.0139)|Ovarian(174;0.0547)|Breast(144;0.093)|Colorectal(97;0.234)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0767)|Lung(70;0.00191)		CATATACACAGCCCCATTGTTC	0.421													C	65371014	-	C	65371013	7	5	592	1	0	1	1	0	0	0	0	0	5248	962	34	0	3873	0	ERBB2IP	5	65371013	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	556644	65371013	115544247	184	49422											
SLC30A5	64924	broad.mit.edu	37	chr5	68413208	68413208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaggtggaaagccactcGgattttctcctatgggtagg	9	11	14	7	1	1	0	0	0	1	0	3	3	1	2	2	5	1	2	2	5	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68413208G>A	ENST00000396591.3	+	11	2034	c.1424G>A	c.(1423-1425)cGg>cAg	p.R475Q	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	475					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		AAAGCCACTCGGATTTTCTCC	0.413													A	68413208	G	A	68413208	3	1	592	1	0	0	0	0	1	0	0	0	14652	1116	39	1	1554	1	SLC30A5	5	68413208	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3042195	68413208	112502052	185	49423											
MARVELD2	153562	broad.mit.edu	37	chr5	68716104	68716104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taactgaatttggaattaacGttgccttgtttattttgtat	10	20	7	4	1	0	1	0	1	0	0	0	2	0	2	1	1	3	3	1	1	6	10			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:68716104G>A	ENST00000325631.5	+	2	966	c.892G>A	c.(892-894)Gtt>Att	p.V298I	MARVELD2_ENST00000413223.2_Intron	NM_001038603.2|NM_001244734.1	NP_001033692.2|NP_001231663.1	Q8N4S9	MALD2_HUMAN	MARVEL domain containing 2	298	MARVEL.				sensory perception of sound	integral to membrane|tight junction				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(1)|lung(4)|skin(1)|urinary_tract(1)	15		Lung NSC(167;0.000937)|Prostate(74;0.0187)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;7.31e-57)|Epithelial(20;1.05e-52)|all cancers(19;2.63e-48)|Lung(70;0.0183)		TGGAATTAACGTTGCCTTGTT	0.423													A	68716104	G	A	68716104	3	1	592	1	0	0	0	0	1	0	0	0	9393	1145	40	1	894	1	MARVELD2	5	68716104	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	302896	68716104	112199156	186	49424											
PDE8B	8622	broad.mit.edu	37	chr5	76649192	76649192	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaattaggcattttgtctcGctcaagaaactgtgttgtac	12	14	8	7	1	2	1	1	0	1	1	3	1	2	1	0	1	2	4	0	1	6	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:76649192G>A	ENST00000264917.5	+	10	1173	c.1128G>A	c.(1126-1128)tcG>tcA	p.S376S	PDE8B_ENST00000342343.4_Silent_p.S356S|PDE8B_ENST00000340978.3_Silent_p.S329S|PDE8B_ENST00000333194.4_Silent_p.S376S|PDE8B_ENST00000346042.3_Intron	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	376					cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		ATTTTGTCTCGCTCAAGAAAC	0.368													A	76649192	G	A	76649192	2	1	592	1	0	0	0	0	0	0	0	1	11730	1074	38	1		1	PDE8B	5	76649192	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7933088	76649192	104266068	187	49425											
ZCCHC9	84240	broad.mit.edu	37	chr5	80604490	80604490	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgggtccacagagcaCgaaataaccaagtgtaaggc	14	6	13	8	1	0	1	0	0	0	1	1	2	1	1	2	3	2	2	2	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:80604490C>T	ENST00000254037.2	+	2	3650	c.495C>T	c.(493-495)caC>caT	p.H165H	ZCCHC9_ENST00000438268.2_Silent_p.H165H|ZCCHC9_ENST00000407610.3_Silent_p.H165H|ZCCHC9_ENST00000380199.5_Silent_p.H165H|ZCCHC9_ENST00000506458.1_3'UTR			Q8N567	ZCHC9_HUMAN	zinc finger, CCHC domain containing 9	165							nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)	13		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.135)		OV - Ovarian serous cystadenocarcinoma(54;8.18e-45)|Epithelial(54;2.72e-39)|all cancers(79;7.33e-34)		CCACAGAGCACGAAATAACCA	0.448													T	80604490	C	T	80604490	2	4	592	1	0	0	0	0	0	0	0	1	17696	535	19	1		1	ZCCHC9	5	80604490	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3955298	80604490	100310770	188	49426											
PPIP5K2	23262	broad.mit.edu	37	chr5	102537324	102537324	+	Frame_Shift_Del	DEL	A	A	-																															aacacaaaaaaaacactgggAaaaagaaatgaaatcttagc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:102537324delA	ENST00000321521.9	+	30	4231	c.3658delA	c.(3658-3660)aaafs	p.K1222fs	PPIP5K2_ENST00000414217.1_Frame_Shift_Del_p.K1222fs|PPIP5K2_ENST00000358359.3_Frame_Shift_Del_p.K1243fs			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1243					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AAACACTGGGAAAAAGAAATG	0.313													-	102537324	A	-	102537324	7	5	592	1	0	1	0	1	0	0	0	0	12415	247	9	0	3772	0	PPIP5K2	5	102537324	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	21932834	102537324	78377936	189	49427											
MCC	4163	broad.mit.edu	37	chr5	112363035	112363037	+	In_Frame_Del	DEL	CTC	CTC	-																															ttggtgtgtggcctggagttCtcctcctctagcagagctat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:112363035_112363037delCTC	ENST00000302475.4	-	17	3015_3017	c.2452_2454delGAG	c.(2452-2454)gagdel	p.E818del	MCC_ENST00000514701.3_5'UTR|MCC_ENST00000515367.2_In_Frame_Del_p.E755del|MCC_ENST00000408903.3_In_Frame_Del_p.E1008del	NM_002387.2	NP_002378	P23508	CRCM_HUMAN	mutated in colorectal cancers	818					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|Wnt receptor signaling pathway	cytoplasm|nucleus|plasma membrane	protein binding|receptor activity			endometrium(4)|kidney(3)|large_intestine(15)|liver(2)|lung(8)|ovary(2)|pancreas(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		all_cancers(142;5.89e-08)|all_epithelial(76;3.57e-11)|all_lung(232;0.000605)|Lung NSC(810;0.000697)|Colorectal(10;0.00146)|Prostate(80;0.00174)|Ovarian(225;0.0175)|Breast(839;0.198)		OV - Ovarian serous cystadenocarcinoma(64;2.04e-54)|Epithelial(69;9.69e-49)|all cancers(49;6.25e-44)|COAD - Colon adenocarcinoma(37;0.0432)|Colorectal(14;0.0766)		GCCTGGAGTTCTCCTCCTCTAGC	0.507													-	112363037	CTC	-	112363035	7	5	592	1	0	1	0	1	0	0	0	0	9448	912	32	0	39	0	MCC	5	112363035	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	9825711	112363035	68552225	190	49428											
KIF3A	11127	broad.mit.edu	37	chr5	132051569	132051569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttagcacgattggcataccGtaatgtactgatagtttcat	11	14	8	8	2	1	1	1	1	0	0	1	2	1	1	1	1	3	5	1	1	5	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:132051569G>A	ENST00000378746.4	-	8	1227	c.1009C>T	c.(1009-1011)Cgg>Tgg	p.R337W	KIF3A_ENST00000403231.1_Missense_Mutation_p.R337W|KIF3A_ENST00000378735.1_Missense_Mutation_p.R337W|AC004237.1_ENST00000431165.1_RNA	NM_007054.5	NP_008985.3	Q9Y496	KIF3A_HUMAN	kinesin family member 3A	337	Kinesin-motor.				blood coagulation|organelle organization|plus-end-directed vesicle transport along microtubule	centrosome|cytosol|kinesin II complex|spindle microtubule	ATP binding|plus-end-directed microtubule motor activity|protein binding	p.R337W(2)		endometrium(1)|kidney(4)|large_intestine(8)|lung(3)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	25		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTGGCATACCGTAATGTACTG	0.328													A	132051569	G	A	132051569	3	1	592	1	0	0	0	0	1	0	0	0	8358	1144	40	1	1130	1	KIF3A	5	132051569	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19688534	132051569	48863691	191	49429											
KDM3B	51780	broad.mit.edu	37	chr5	137721747	137721749	+	In_Frame_Del	DEL	AAG	AAG	-																															cagtaaaatcttccaaaggaAagaagaagagagaaagcata																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:137721747_137721749delAAG	ENST00000314358.5	+	7	1017_1019	c.817_819delAAG	c.(817-819)aagdel	p.K275del		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	275					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						TTCCAAAGGAAAGAAGAAGAGAG	0.419													-	137721749	AAG	-	137721747	7	5	592	1	0	1	0	1	0	0	0	0	8185	15	1	0	843	0	KDM3B	5	137721747	In_Frame_Del	DEL	AAG	TCGA-HT-8564-01A-11D-2395-08	5670178	137721747	43193513	192	49430											
PSD2	84249	broad.mit.edu	37	chr5	139189297	139189298	+	Frame_Shift_Del	DEL	AA	AA	-																															gccagacttgaacattctggAagattcagcggagtccaggc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:139189297_139189298delAA	ENST00000274710.3	+	2	477_478	c.272_273delAA	c.(271-273)gaafs	p.E91fs		NM_032289.2	NP_115665.1	Q9BQI7	PSD2_HUMAN	pleckstrin and Sec7 domain containing 2	91					regulation of ARF protein signal transduction	cytoplasm|integral to membrane	ARF guanyl-nucleotide exchange factor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(10)|liver(2)|lung(15)|ovary(1)|prostate(2)	38			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AACATTCTGGAAGATTCAGCGG	0.619													-	139189298	AA	-	139189297	7	5	592	1	0	1	0	1	0	0	0	0	12732	246	9	0	274	0	PSD2	5	139189297	Frame_Shift_Del	DEL	AA	TCGA-HT-8564-01A-11D-2395-08	1467550	139189297	41725963	193	49431											
TMCO6	55374	broad.mit.edu	37	chr5	140021557	140021557	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgagctctctcactccgaGcagtccactgttgctgaggc	7	10	10	14	1	2	2	1	2	1	0	5	3	4	2	2	1	3	4	2	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140021557G>A	ENST00000394671.3	+	4	518	c.417G>A	c.(415-417)gaG>gaA	p.E139E	TMCO6_ENST00000252100.6_Silent_p.E139E|TMCO6_ENST00000537378.1_Intron|TMCO6_ENST00000511410.1_3'UTR|NDUFA2_ENST00000510680.1_Intron	NM_018502.3	NP_060972.3	Q96DC7	TMCO6_HUMAN	transmembrane and coiled-coil domains 6	139					protein import into nucleus	cytoplasm|nuclear pore	binding|protein transporter activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|urinary_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCACTCCGAGCAGTCCACTG	0.617													A	140021557	G	A	140021557	2	1	592	1	0	0	0	0	0	0	0	1	16100	962	34	2		2	TMCO6	5	140021557	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	832260	140021557	40893703	194	49432											
PCDHA6	56142	broad.mit.edu	37	chr5	140209817	140209817	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagcctgctggtcctcaCgctactgctgtacacagcgc	7	9	9	16	2	1	0	1	0	0	0	3	0	3	0	3	1	6	4	3	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140209817C>T	ENST00000529310.1	+	1	2255	c.2141C>T	c.(2140-2142)aCg>aTg	p.T714M	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1												p.T714M(2)		NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGGTCCTCACGCTACTGCTG	0.706													T	140209817	C	T	140209817	3	4	592	1	0	0	0	0	1	0	0	0	11604	536	19	1	2143	1	PCDHA6	5	140209817	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	188260	140209817	40705443	195	49433											
PCDHA12	56137	broad.mit.edu	37	chr5	140255597	140255601	+	Frame_Shift_Del	DEL	TAAAA	TAAAA	-																															ctaaatgagaattttgagctTaaaataaaaacaaaaaaaga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140255597_140255601delTAAAA	ENST00000398631.2	+	1	540_544	c.540_544delTAAAA	c.(538-546)cttaaaatafs	p.KI181fs	PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018903.2|NM_031864.2	NP_061726.1|NP_114070.1												p.L180L(1)		NS(4)|breast(2)|cervix(1)|endometrium(19)|kidney(8)|large_intestine(8)|liver(2)|lung(25)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(1)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATTTTGAGCTTAAAATAAAAACAAA	0.366													-	140255601	TAAAA	-	140255597	7	5	592	1	0	1	0	1	0	0	0	0	11598	1741	61	0	542	0	PCDHA12	5	140255597	Frame_Shift_Del	DEL	TAAAA	TCGA-HT-8564-01A-11D-2395-08	45780	140255597	40659663	196	49434											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769478	140769478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccggatatcactgaccGccccgacccctctgacctcc	6	7	8	20	3	2	2	1	2	1	0	3	4	3	3	8	1	1	1	8	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:140769478G>A	ENST00000519479.1	+	1	2027	c.2027G>A	c.(2026-2028)cGc>cAc	p.R676H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACTGACCGCCCCGACCCC	0.617													A	140769478	G	A	140769478	3	1	592	1	0	0	0	0	1	0	0	0	11641	1087	38	1	2029	1	PCDHGB4	5	140769478	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	513881	140769478	40145782	197	49435											
ARAP3	64411	broad.mit.edu	37	chr5	141035270	141035270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatagtgccaaacttctgaCgggcaaggtcagaggaggaa	13	6	14	8	1	2	2	1	1	1	1	2	4	2	4	1	4	2	2	1	4	4	2	rs138515824	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:141035270C>T	ENST00000239440.4	-	31	4093	c.4028G>A	c.(4027-4029)cGt>cAt	p.R1343H	ARAP3_ENST00000513878.1_Missense_Mutation_p.R1005H|ARAP3_ENST00000512390.1_5'UTR|ARAP3_ENST00000508305.1_Missense_Mutation_p.R1174H	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	1343					cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						AAACTTCTGACGGGCAAGGTC	0.597													T	141035270	C	T	141035270	3	4	592	1	0	0	0	0	1	0	0	0	843	536	19	1	618	1	ARAP3	5	141035270	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	265792	141035270	39879990	198	49436											
SYNPO	11346	broad.mit.edu	37	chr5	150029450	150029450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcccgaagcccagcccGgaccccgcctgcctccctct	5	5	9	22	3	1	0	0	0	1	0	3	2	3	1	8	2	3	1	8	2	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150029450G>A	ENST00000394243.1	+	3	2719	c.2345G>A	c.(2344-2346)cGg>cAg	p.R782Q	SYNPO_ENST00000307662.4_Missense_Mutation_p.R538Q|SYNPO_ENST00000522122.1_Missense_Mutation_p.R782Q|SYNPO_ENST00000519664.1_Missense_Mutation_p.R538Q	NM_001166208.1	NP_001159680.1	Q8N3V7	SYNPO_HUMAN	synaptopodin	782	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCCAGCCCGGACCCCGCCT	0.687													A	150029450	G	A	150029450	3	1	592	1	0	0	0	0	1	0	0	0	15553	1116	39	1	2351	1	SYNPO	5	150029450	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8994180	150029450	30885810	199	49437											
SLC36A1	206358	broad.mit.edu	37	chr5	150856223	150856223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacctgggcatggtcatcGtcaccatcctctacatcagc	8	11	8	14	1	4	0	3	0	1	0	6	0	5	0	3	2	3	2	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:150856223G>A	ENST00000243389.3	+	9	1118	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	SLC36A1_ENST00000520701.1_Missense_Mutation_p.V299I|SLC36A1_ENST00000521925.1_Missense_Mutation_p.V299I	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	299					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	CATGGTCATCGTCACCATCCT	0.517													A	150856223	G	A	150856223	3	1	592	1	0	0	0	0	1	0	0	0	14687	1145	40	1	925	1	SLC36A1	5	150856223	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	826773	150856223	30059037	200	49438											
HIGD2A	192286	broad.mit.edu	37	chr5	175815916	175815917	+	Frame_Shift_Del	DEL	AG	AG	-																															cccactgtttacaggaatccAgagagtttcaaggaaaagtt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:175815916_175815917delAG	ENST00000274787.2	+	1	169_170	c.96_97delAG	c.(94-99)ccagagfs	p.E33fs	NOP16_ENST00000389158.5_5'UTR	NM_138820.2	NP_620175.1	Q9BW72	HIG2A_HUMAN	HIG1 hypoxia inducible domain family, member 2A	33	HIG1.					integral to membrane				large_intestine(1)	1	all_cancers(89;0.00522)|Renal(175;0.000269)|Lung NSC(126;0.0105)|all_lung(126;0.0168)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	Kidney(146;0.0965)		ACAGGAATCCAGAGAGTTTCAA	0.564													-	175815917	AG	-	175815916	7	5	592	1	0	1	0	1	0	0	0	0	7164	175	7	0	98	0	HIGD2A	5	175815916	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	24959693	175815916	5099344	201	49439											
GPRIN1	114787	broad.mit.edu	37	chr5	176025905	176025905	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccccggctctgtctttcCtgtggacgcagaatccatgc	6	10	11	14	2	2	1	0	0	2	1	4	3	4	2	4	2	2	2	4	2	1	1	rs147380779	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176025905C>A	ENST00000303991.4	-	2	1108	c.931G>T	c.(931-933)Gga>Tga	p.G311*		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	311						growth cone|plasma membrane				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTGTCTTTCCTGTGGACGCA	0.572													A	176025905	C	A	176025905	4	1	592	1	0	0	0	0	0	1	0	0	6784	690	24	4	2099	4	GPRIN1	5	176025905	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	209989	176025905	4889355	202	49440											
SNCB	6620	broad.mit.edu	37	chr5	176056600	176056600	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcttggttttctccGcggctgccacaacgccctcc	3	10	8	20	3	1	0	0	0	1	0	3	0	2	0	6	2	3	3	6	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:176056600G>A	ENST00000310112.3	-	3	306	c.56C>T	c.(55-57)gCg>gTg	p.A19V	SNCB_ENST00000510387.1_Missense_Mutation_p.A19V|SNCB_ENST00000393693.2_Missense_Mutation_p.A19V|SNCB_ENST00000506696.1_Missense_Mutation_p.A19V	NM_001001502.1	NP_001001502.1	Q16143	SYUB_HUMAN	synuclein, beta	19							calcium ion binding|phospholipase inhibitor activity			breast(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	10	all_cancers(89;0.00222)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.00498)|all_neural(177;0.0212)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGTTTTCTCCGCGGCTGCCAC	0.677													A	176056600	G	A	176056600	3	1	592	1	0	0	0	0	1	0	0	0	14936	1087	38	1	368	1	SNCB	5	176056600	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	30695	176056600	4858660	203	49441											
ADAMTS2	9509	broad.mit.edu	37	chr5	178566910	178566910	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgggttgtcacactggcGggtcctgaacttcacgcccg	5	10	13	13	3	2	1	2	1	0	0	3	1	3	1	2	3	1	1	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:178566910G>A	ENST00000251582.7	-	11	1857	c.1756C>T	c.(1756-1758)Cgc>Tgc	p.R586C		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	586	TSP type-1 1.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TCACACTGGCGGGTCCTGAAC	0.642													A	178566910	G	A	178566910	3	1	592	1	0	0	0	0	1	0	0	0	265	1116	39	1	1927	1	ADAMTS2	5	178566910	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2510310	178566910	2348350	204	49442											
HNRNPH1	3187	broad.mit.edu	37	chr5	179043155	179043155	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcatgctgctctggccaccGtagccgcctccgtaaccccc	5	8	8	20	3	2	0	1	0	1	0	3	0	3	0	7	1	4	4	7	1	2	2	rs115293737	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179043155G>A	ENST00000356731.5	-	11	2807	c.1272C>T	c.(1270-1272)taC>taT	p.Y424Y	HNRNPH1_ENST00000393432.4_Silent_p.Y424Y|HNRNPH1_ENST00000511300.2_Silent_p.Y134Y|HNRNPH1_ENST00000510411.1_Silent_p.Y404Y|HNRNPH1_ENST00000329433.6_Silent_p.Y424Y|HNRNPH1_ENST00000442819.2_Silent_p.Y424Y			P31943	HNRH1_HUMAN	heterogeneous nuclear ribonucleoprotein H1 (H)	424	2 X 16 AA Gly-rich approximate repeats.				regulation of RNA splicing	actin cytoskeleton|catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|poly(U) RNA binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|skin(1)	14						TCTGGCCACCGTAGCCGCCTC	0.473													A	179043155	G	A	179043155	2	1	592	1	0	0	0	0	0	0	0	1	7321	1140	40	1		1	HNRNPH1	5	179043155	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	476245	179043155	1872105	205	49443											
MAPK9	5601	broad.mit.edu	37	chr5	179676062	179676062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatcatgaagttagtgcacGctgtccgggccaggccaaag	10	8	12	11	2	2	1	2	1	0	0	3	1	3	1	3	2	1	3	3	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:179676062G>A	ENST00000452135.2	-	6	825	c.527C>T	c.(526-528)gCg>gTg	p.A176V	MAPK9_ENST00000397072.3_3'UTR|MAPK9_ENST00000425491.2_Missense_Mutation_p.A176V|MAPK9_ENST00000343111.6_Missense_Mutation_p.A176V|MAPK9_ENST00000347470.4_Missense_Mutation_p.A176V|MAPK9_ENST00000524170.1_5'UTR|MAPK9_ENST00000455781.1_Missense_Mutation_p.A176V|MAPK9_ENST00000393360.3_Missense_Mutation_p.A176V|MAPK9_ENST00000539014.1_Missense_Mutation_p.A176V			P45984	MK09_HUMAN	mitogen-activated protein kinase 9	176	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTAGTGCACGCTGTCCGGGC	0.498													A	179676062	G	A	179676062	3	1	592	1	0	0	0	0	1	0	0	0	9362	1087	38	1	897	1	MAPK9	5	179676062	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	632907	179676062	1239198	206	49444											
FLT4	2324	broad.mit.edu	37	chr5	180046723	180046723	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccttgtggatgccgaaagcGgaggcttccaccaccttccc	7	8	10	16	2	0	0	0	0	0	0	2	3	2	2	6	3	2	1	6	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr5:180046723G>A	ENST00000261937.6	-	18	2667	c.2589C>T	c.(2587-2589)tcC>tcT	p.S863S	FLT4_ENST00000393347.3_Silent_p.S863S|FLT4_ENST00000502649.1_Silent_p.S863S	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	863	Protein kinase.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGCCGAAAGCGGAGGCTTCCA	0.657													A	180046723	G	A	180046723	2	1	592	1	0	0	0	0	0	0	0	1	5993	1103	39	1		1	FLT4	5	180046723	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	370661	180046723	868537	207	49445											
DUSP22	56940	broad.mit.edu	37	chr6	348938	348938	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgacctacgataattataCgacggagacctaacgcaagc	14	7	9	11	4	0	2	0	1	0	1	0	5	0	2	2	1	4	2	2	1	6	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:348938C>T	ENST00000604971.1	+	4	1409	c.296C>T	c.(295-297)aCg>aTg	p.T99M	DUSP22_ENST00000419235.2_Missense_Mutation_p.T202M|DUSP22_ENST00000603453.1_Missense_Mutation_p.T99M|DUSP22_ENST00000344450.5_Intron|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.T99M			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	0	Tyrosine-protein phosphatase.				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GATAATTATACGACGGAGACC	0.622													T	348938	C	T	348938	3	4	592	1	0	0	0	0	1	0	0	0	4860	551	19	1		1	DUSP22	6	348938	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		348938	170766129	208	49446											
TMEM14C	51522	broad.mit.edu	37	chr6	10725225	10725225	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attggtttggctttggctacGcagcactggttgcttctggt	4	16	13	8	1	1	0	0	0	1	0	1	0	1	0	0	5	3	7	0	5	1	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:10725225G>A	ENST00000541412.1	+	3	437	c.52G>A	c.(52-54)Gca>Aca	p.A18T	TMEM14C_ENST00000229563.5_Missense_Mutation_p.A18T|TMEM14C_ENST00000467415.1_3'UTR	NM_001165258.1	NP_001158730.1	Q9P0S9	TM14C_HUMAN	transmembrane protein 14C	18					heme biosynthetic process	integral to membrane|mitochondrial membrane				large_intestine(2)|lung(3)	5	Ovarian(93;0.107)|Breast(50;0.137)	all_hematologic(90;0.135)	Epithelial(50;0.246)			CTTTGGCTACGCAGCACTGGT	0.448													A	10725225	G	A	10725225	3	1	592	1	0	0	0	0	1	0	0	0	16165	1087	38	1	58	1	TMEM14C	6	10725225	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10376287	10725225	160389842	209	49447											
ABCF1	23	broad.mit.edu	37	chr6	30552327	30552327	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcagggggctggcgcatgCgtgtctccctggccaggtgg	3	9	17	12	2	2	0	1	0	2	0	4	0	2	0	2	6	1	2	2	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:30552327C>T	ENST00000326195.8	+	14	1487	c.1375C>T	c.(1375-1377)Cgt>Tgt	p.R459C	ABCF1_ENST00000376545.3_Missense_Mutation_p.R421C|ABCF1_ENST00000396515.4_Intron	NM_001025091.1	NP_001020262.1	Q8NE71	ABCF1_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 1	459	ABC transporter 1.				inflammatory response|translational initiation	nuclear envelope|nucleoplasm|polysomal ribosome	ATP binding|ATPase activity|protein binding|ribosome binding|translation activator activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(3)|skin(2)	21						CTGGCGCATGCGTGTCTCCCT	0.612													T	30552327	C	T	30552327	3	4	592	1	0	0	0	0	1	0	0	0	65	768	27	1	1429	1	ABCF1	6	30552327	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	19827102	30552327	140562740	210	49448											
FGD2	221472	broad.mit.edu	37	chr6	36978766	36978766	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggagccagagaagaagatCgtccaggagctgctggagac	13	4	15	9	1	0	4	0	0	0	4	2	8	1	6	2	3	3	2	2	3	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:36978766C>T	ENST00000274963.8	+	3	489	c.318C>T	c.(316-318)atC>atT	p.I106I		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	106	DH.				actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGAAGAAGATCGTCCAGGAGC	0.612													T	36978766	C	T	36978766	2	4	592	1	0	0	0	0	0	0	0	1	5882	874	31	1		1	FGD2	6	36978766	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6426439	36978766	134136301	211	49449											
PTK7	5754	broad.mit.edu	37	chr6	43044258	43044258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggggatccccggccagacCccgccggttgcctctgctca	4	6	13	18	4	2	1	1	0	1	1	3	2	3	2	7	4	2	2	7	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:43044258C>A	ENST00000230419.4	+	1	253	c.32C>A	c.(31-33)cCc>cAc	p.P11H	PTK7_ENST00000471863.1_Missense_Mutation_p.P11H|PTK7_ENST00000476760.1_Missense_Mutation_p.P11H|PTK7_ENST00000349241.2_Missense_Mutation_p.P11H|PTK7_ENST00000352931.2_Missense_Mutation_p.P11H|PTK7_ENST00000345201.2_Missense_Mutation_p.P11H	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	11					actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCGGCCAGACCCCGCCGGTTG	0.736													A	43044258	C	A	43044258	3	1	592	1	0	0	0	0	1	0	0	0	12851	623	22	4	34	4	PTK7	6	43044258	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6065492	43044258	128070809	212	49450											
TDRD6	221400	broad.mit.edu	37	chr6	46656282	46656282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctggtgccggcaggctgCggcgcgggctcaggcgagcc	3	4	20	14	5	1	0	1	0	0	0	1	1	1	0	3	7	3	3	3	7	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:46656282C>T	ENST00000544460.1	+	1	671	c.417C>T	c.(415-417)tgC>tgT	p.C139C	TDRD6_ENST00000316081.6_Silent_p.C139C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	139					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGCAGGCTGCGGCGCGGGCT	0.711													T	46656282	C	T	46656282	2	4	592	1	0	0	0	0	0	0	0	1	15834	776	27	1		1	TDRD6	6	46656282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3612024	46656282	124458785	213	49451											
SNAP91	9892	broad.mit.edu	37	chr6	84417562	84417563	+	Frame_Shift_Ins	INS	-	-	T																															attacttcatgagtagtggcINStttgcagaccgctcttgcta																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:84417562_84417563insT	ENST00000428679.2	-	2	677_678	c.84_85insA	c.(82-87)aaagccfs	p.A29fs	SNAP91_ENST00000521485.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000369694.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000439399.2_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520213.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000521743.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000195649.6_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000520302.1_Frame_Shift_Ins_p.A29fs|SNAP91_ENST00000437520.1_Frame_Shift_Ins_p.A29fs			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	29	ENTH.				clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		TGAGTAGTGGCTTTGCAGACCG	0.559													T	84417563	-	T	84417562	7	5	592	1	0	1	1	0	0	0	0	0	14927	797	28	0	2746	0	SNAP91	6	84417562	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37761280	84417562	86697505	214	49452											
PEX3	8504	broad.mit.edu	37	chr6	143793364	143793364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaaagaaatcagaaatctcGttgagcagcataagtcttct	16	11	7	7	1	4	3	1	1	3	2	5	3	4	3	0	0	2	3	0	0	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:143793364G>A	ENST00000367591.4	+	8	709	c.646G>A	c.(646-648)Gtt>Att	p.V216I		NM_003630.2	NP_003621.1	P56589	PEX3_HUMAN	peroxisomal biogenesis factor 3	216					protein import into peroxisome membrane|transmembrane transport	integral to peroxisomal membrane	protein binding			endometrium(1)|large_intestine(9)|lung(4)|ovary(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(155;5.73e-06)|GBM - Glioblastoma multiforme(68;0.0117)		CAGAAATCTCGTTGAGCAGCA	0.348													A	143793364	G	A	143793364	3	1	592	1	0	0	0	0	1	0	0	0	11824	1145	40	1	676	1	PEX3	6	143793364	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	59375802	143793364	27321703	215	49453											
LATS1	9113	broad.mit.edu	37	chr6	150005515	150005515	+	Frame_Shift_Del	DEL	G	G	-																															tccttacttgaggtggtggtGgggggttcactctctgtccg																								rs56149740		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:150005515delG	ENST00000543571.1	-	4	1257	c.710delC	c.(709-711)ccafs	p.P240fs	LATS1_ENST00000392273.3_Frame_Shift_Del_p.P240fs|LATS1_ENST00000253339.5_Frame_Shift_Del_p.P240fs|LATS1_ENST00000542747.1_5'UTR	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	240					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGGTGGTGGTGGGGGGTTCAC	0.532													-	150005515	G	-	150005515	7	5	592	1	0	1	0	1	0	0	0	0	8705	1348	47	0	2702	0	LATS1	6	150005515	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	6212151	150005515	21109552	216	49454											
WTAP	9589	broad.mit.edu	37	chr6	160176453	160176453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttacgtaaatcaactcagtgCggggtatgaaagtgtagact	13	11	11	6	2	2	2	2	1	0	1	2	2	2	2	0	2	3	3	0	2	7	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:160176453C>T	ENST00000358372.4	+	8	2758	c.1001C>T	c.(1000-1002)gCg>gTg	p.A334V	SOD2_ENST00000546087.1_Intron	NM_001270531.1|NM_004906.4	NP_001257460.1|NP_004897.2	Q15007	FL2D_HUMAN	Wilms tumor 1 associated protein	334					cell cycle|mRNA processing|RNA splicing	nuclear membrane|nucleolus				central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)|skin(1)|urinary_tract(1)	18		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;1.75e-18)|BRCA - Breast invasive adenocarcinoma(81;5.93e-06)		CAACTCAGTGCGGGGTATGAA	0.483													T	160176453	C	T	160176453	3	4	592	1	0	0	0	0	1	0	0	0	17511	768	27	1	1031	1	WTAP	6	160176453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10170938	160176453	10938614	217	49455											
FRMD1	79981	broad.mit.edu	37	chr6	168463623	168463623	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggatcacggtgggaCgaccttccttcttatcctag	7	11	10	13	2	2	0	1	0	1	0	5	3	5	2	4	3	0	0	4	3	2	4	rs115999698	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:168463623C>T	ENST00000283309.6	-	7	885	c.821G>A	c.(820-822)cGt>cAt	p.R274H	FRMD1_ENST00000432403.1_5'UTR|FRMD1_ENST00000440994.2_Missense_Mutation_p.R206H|FRMD1_ENST00000537786.1_Missense_Mutation_p.R45H	NM_024919.3	NP_079195.3	Q8N878	FRMD1_HUMAN	FERM domain containing 1	274	FERM.		R -> C (in dbSNP:rs902393).			cytoskeleton	binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	19		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		CACGGTGGGACGACCTTCCTT	0.622													T	168463623	C	T	168463623	3	4	592	1	0	0	0	0	1	0	0	0	6101	536	19	1	848	1	FRMD1	6	168463623	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8287170	168463623	2651444	218	49456											
FAM120B	84498	broad.mit.edu	37	chr6	170626760	170626760	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttgatggcatggtggaGcaggataagagagatgaatg	12	11	15	3	0	1	4	0	2	1	2	1	7	1	6	0	4	1	2	0	4	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr6:170626760G>T	ENST00000476287.1	+	2	390	c.282G>T	c.(280-282)gaG>gaT	p.E94D	FAM120B_ENST00000252510.9_Intron|FAM120B_ENST00000540480.1_Missense_Mutation_p.E106D|FAM120B_ENST00000537664.1_Missense_Mutation_p.E117D	NM_032448.1	NP_115824.1	Q96EK7	F120B_HUMAN	family with sequence similarity 120B	94					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(2)	44		Breast(66;0.000338)|Esophageal squamous(34;0.241)		OV - Ovarian serous cystadenocarcinoma(33;3.94e-22)|BRCA - Breast invasive adenocarcinoma(81;6.47e-06)|GBM - Glioblastoma multiforme(31;0.0899)		GCATGGTGGAGCAGGATAAGA	0.443													T	170626760	G	T	170626760	3	4	592	1	0	0	0	0	1	0	0	0	5462	962	34	4	284	4	FAM120B	6	170626760	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2163137	170626760	488307	219	49457											
FBXL18	80028	broad.mit.edu	37	chr7	5540761	5540761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcaggttgcagcaggacGccaccagagtctccaggatg	9	5	15	12	2	1	1	0	0	1	1	2	3	1	3	3	4	2	4	3	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:5540761G>A	ENST00000382368.3	-	3	1262	c.1139C>T	c.(1138-1140)gCg>gTg	p.A380V	FBXL18_ENST00000453700.3_Missense_Mutation_p.A380V	NM_024963.4	NP_079239.3	Q96ME1	FXL18_HUMAN	F-box and leucine-rich repeat protein 18	380									FBXL18/RNF216(2)	central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(3)	21		Ovarian(82;0.0607)		UCEC - Uterine corpus endometrioid carcinoma (126;0.181)|OV - Ovarian serous cystadenocarcinoma(56;3.64e-13)		GCAGCAGGACGCCACCAGAGT	0.687													A	5540761	G	A	5540761	3	1	592	1	0	0	0	0	1	0	0	0	5763	1087	38	1	1029	1	FBXL18	7	5540761	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		5540761	153597902	220	49458											
HOXA1	3198	broad.mit.edu	37	chr7	27135248	27135248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagccatagcttggaccaCaacttgagtgggagtaggac	11	8	14	8	0	0	2	0	2	0	0	0	5	0	5	2	3	3	2	2	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:27135248C>T	ENST00000343060.4	-	1	345	c.284G>A	c.(283-285)tGt>tAt	p.C95Y	HOXA1_ENST00000355633.5_Missense_Mutation_p.C95Y	NM_005522.4	NP_005513	P49639	HXA1_HUMAN	homeobox A1	95						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						GCTTGGACCACAACTTGAGTG	0.612											OREG0003750	type=REGULATORY REGION|Gene=BC031342|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	27135248	C	T	27135248	3	4	592	1	0	0	0	0	1	0	0	0	7343	478	17	2	731	2	HOXA1	7	27135248	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21594487	27135248	132003415	221	49459											
GGCT	79017	broad.mit.edu	37	chr7	30538452	30538452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggatgggggagcactttcGtaatttgtcatcagataact	10	12	13	6	1	2	1	2	0	0	1	3	3	2	3	0	4	2	2	0	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:30538452G>A	ENST00000275428.4	-	3	524	c.390C>T	c.(388-390)taC>taT	p.Y130Y	GGCT_ENST00000598361.1_Silent_p.Y45Y|GGCT_ENST00000409390.1_Intron|GGCT_ENST00000409144.1_Intron|GGCT_ENST00000409436.1_Silent_p.Y130Y|GGCT_ENST00000005374.6_Intron	NM_024051.3	NP_076956.1	O75223	GGCT_HUMAN	gamma-glutamylcyclotransferase	130					release of cytochrome c from mitochondria	cytosol	acyltransferase activity|gamma-glutamylcyclotransferase activity|protein homodimerization activity	p.Y130*(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(3)	8						GAGCACTTTCGTAATTTGTCA	0.338													A	30538452	G	A	30538452	2	1	592	1	0	0	0	0	0	0	0	1	6411	1140	40	1		1	GGCT	7	30538452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3403204	30538452	128600211	222	49460											
FKBP9	11328	broad.mit.edu	37	chr7	33014804	33014804	+	Frame_Shift_Del	DEL	C	C	-																															taatttctagctggtgtgatCccccccaattcagtgcttca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:33014804delC	ENST00000242209.4	+	3	547	c.378delC	c.(376-378)atcfs	p.I126fs	FKBP9_ENST00000538336.1_Frame_Shift_Del_p.I179fs|AVL9_ENST00000404479.1_Intron|FKBP9_ENST00000538443.1_5'UTR	NM_001284343.1|NM_007270.3	NP_001271272.1|NP_009201.2	O95302	FKBP9_HUMAN	FK506 binding protein 9, 63 kDa	126	PPIase FKBP-type 1.				protein folding	endoplasmic reticulum|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(13)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(9)|ovary(2)|upper_aerodigestive_tract(1)	39			GBM - Glioblastoma multiforme(11;0.0156)			CTGGTGTGATCCCCCCCAATT	0.443													-	33014804	C	-	33014804	7	5	592	1	0	1	0	1	0	0	0	0	5964	845	30	0	388	0	FKBP9	7	33014804	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	2476352	33014804	126123859	223	49461											
HECW1	23072	broad.mit.edu	37	chr7	43484733	43484733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgacacgcaccccagcacCgggagcgagagcgactccag	10	1	14	16	5	0	1	0	0	0	1	1	5	1	2	4	2	3	2	4	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:43484733C>T	ENST00000395891.2	+	11	2567	c.1962C>T	c.(1960-1962)acC>acT	p.T654T	HECW1_ENST00000453890.1_Silent_p.T654T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1						protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						ACCCCAGCACCGGGAGCGAGA	0.716													T	43484733	C	T	43484733	2	4	592	1	0	0	0	0	0	0	0	1	7097	639	23	1		1	HECW1	7	43484733	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10469929	43484733	115653930	224	49462											
TYW1B	441250	broad.mit.edu	37	chr7	72281140	72281140	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtaagttttgccaaatcGaaaatcaatggatgcttcct	13	12	8	8	1	1	0	1	0	0	0	3	2	2	1	2	2	2	3	2	2	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72281140G>A	ENST00000438904.2	-	0	447				TYW1B_ENST00000438125.1_RNA|TYW1B_ENST00000435769.2_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TTGCCAAATCGAAAATCAATG	0.448													A	72281140	G	A	72281140	1	1	592	0	1	0	0	0	0	0	0	0	16921	1066	37	1		1	TYW1B	7	72281140	RNA	SNP	G	TCGA-HT-8564-01A-11D-2395-08	28796407	72281140	86857523	225	49463											
FKBP6	8468	broad.mit.edu	37	chr7	72754699	72754699	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagcacctggtggaggcCgccaagcttcctgttctcct	6	9	12	14	1	1	0	0	0	1	0	3	2	2	1	5	3	3	4	5	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:72754699C>T	ENST00000252037.4	+	6	717	c.648C>T	c.(646-648)gcC>gcT	p.A216A	FKBP6_ENST00000413573.2_Silent_p.A186A|FKBP6_ENST00000431982.2_Silent_p.A211A	NM_003602.3	NP_003593.3	O75344	FKBP6_HUMAN	FK506 binding protein 6, 36kDa	216					protein folding	membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	16		Lung NSC(55;0.0908)|all_lung(88;0.198)				TGGTGGAGGCCGCCAAGCTTC	0.572													T	72754699	C	T	72754699	2	4	592	1	0	0	0	0	0	0	0	1	5961	639	23	1		1	FKBP6	7	72754699	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	473559	72754699	86383964	226	49464											
MLXIPL	51085	broad.mit.edu	37	chr7	73013863	73013863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgagctcacctgcagaCggctgtgtccagagaggtgg	7	7	18	9	1	1	3	1	1	0	2	2	4	2	3	2	5	2	3	2	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73013863C>T	ENST00000313375.3	-	8	1111	c.1064G>A	c.(1063-1065)cGt>cAt	p.R355H	MLXIPL_ENST00000414749.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000434326.1_Missense_Mutation_p.R262H|MLXIPL_ENST00000429400.2_Missense_Mutation_p.R355H|MLXIPL_ENST00000354613.1_Missense_Mutation_p.R355H|MLXIPL_ENST00000395189.1_Missense_Mutation_p.R262H	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN	MLX interacting protein-like	355					anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				CACCTGCAGACGGCTGTGTCC	0.632													T	73013863	C	T	73013863	3	4	592	1	0	0	0	0	1	0	0	0	9712	536	19	1	1534	1	MLXIPL	7	73013863	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	259164	73013863	86124800	227	49465											
ELN	2006	broad.mit.edu	37	chr7	73471784	73471784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcccaggtgtgccgggcaCgggaggagtgccaggtgagc	7	5	19	10	2	0	1	0	1	0	0	1	3	1	3	3	5	3	1	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:73471784C>T	ENST00000358929.4	+	22	1521	c.1430C>T	c.(1429-1431)aCg>aTg	p.T477M	ELN_ENST00000320399.6_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000414324.1_Intron|ELN_ENST00000445912.1_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000320492.7_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	477	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	GTGCCGGGCACGGGAGGAGTG	0.617			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						T	73471784	C	T	73471784	3	4	592	1	0	0	0	0	1	0	0	0	5112	551	19	1		1	ELN	7	73471784	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	457921	73471784	85666879	228	49466											
PCLO	27445	broad.mit.edu	37	chr7	82584436	82584436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagcatcccaccatacaaagGctctttttcaaacacttcat	13	12	3	13	0	3	0	2	0	1	0	4	0	4	0	2	1	3	2	2	1	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:82584436G>A	ENST00000333891.9	-	5	6170	c.5833C>T	c.(5833-5835)Cct>Tct	p.P1945S	PCLO_ENST00000423517.2_Missense_Mutation_p.P1945S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CCATACAAAGGCTCTTTTTCA	0.373													A	82584436	G	A	82584436	3	1	592	1	0	0	0	0	1	0	0	0	11659	1203	42	2	9696	2	PCLO	7	82584436	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9112652	82584436	76554227	229	49467											
SEMA3A	10371	broad.mit.edu	37	chr7	83823817	83823817	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggataatttcagccttggcAcattgttcttcccattctga	9	15	7	10	0	3	1	1	1	2	0	4	2	4	2	2	2	1	2	2	2	1	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:83823817A>G	ENST00000265362.4	-	1	400	c.86T>C	c.(85-87)gTg>gCg	p.V29A	SEMA3A_ENST00000436949.1_Missense_Mutation_p.V29A	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A						axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CAGCCTTGGCACATTGTTCTT	0.418													G	83823817	A	G	83823817	3	3	592	1	0	0	0	0	1	0	0	0	14117	159	6	3	2297	3	SEMA3A	7	83823817	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	1239381	83823817	75314846	230	49468											
AKAP9	10142	broad.mit.edu	37	chr7	91737807	91737807	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacatatttttaatcctttaGgtacccaggcactccagctg	10	14	6	11	0	0	0	0	0	0	0	2	0	2	0	3	2	3	3	3	2	5	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:91737807G>T	ENST00000359028.2	+	49	11783		c.e49-1		AKAP9_ENST00000356239.3_Splice_Site|AKAP9_ENST00000358100.2_Splice_Site			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9						G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TAATCCTTTAGGTACCCAGGC	0.423			T	BRAF	papillary thyroid								T	91737807	G	T	91737807	5	4	592	1	0	0	0	0	0	0	1	0	459	1014	35	4	11740	4	AKAP9	7	91737807	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7913990	91737807	67400856	231	49469											
PON1	5444	broad.mit.edu	37	chr7	94931546	94931548	+	In_Frame_Del	DEL	AGA	AGA	-																															aggaggattctctgagtcatAgaagaagattttcatgccat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:94931546_94931548delAGA	ENST00000222381.3	-	8	1109_1111	c.878_880delTCT	c.(877-882)ttctat>tat	p.F293del	PON1_ENST00000542556.1_In_Frame_Del_p.F293del	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	293					aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Atorvastatin(DB01076)|Cefazolin(DB01327)	TCTGAGTCATAGAAGAAGATTTT	0.399													-	94931548	AGA	-	94931546	7	5	592	1	0	1	0	1	0	0	0	0	12325	420	15	0	195	0	PON1	7	94931546	In_Frame_Del	DEL	AGA	TCGA-HT-8564-01A-11D-2395-08	3193739	94931546	64207117	232	49470											
MCM7	4176	broad.mit.edu	37	chr7	99690987	99690989	+	In_Frame_Del	DEL	TCT	TCT	-																															gcctgatggcttcattcacaTcttctttctccaccacatcc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:99690987_99690989delTCT	ENST00000303887.5	-	14	2529_2531	c.1884_1886delAGA	c.(1882-1887)gaagat>gat	p.E628del	MCM7_ENST00000354230.3_In_Frame_Del_p.E452del|MCM7_ENST00000343023.6_Intron	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	628	Interaction with ATRIP.				cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	TTCATTCACATCTTCTTTCTCCA	0.527													-	99690989	TCT	-	99690987	7	5	592	1	0	1	0	1	0	0	0	0	9467	1435	50	0	281	0	MCM7	7	99690987	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	4759441	99690987	59447676	233	49471											
ZAN	7455	broad.mit.edu	37	chr7	100353038	100353039	+	RNA	INS	-	-	C																															aacgactactatgaggtaagINSccccccgggatgctggggtc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100353038_100353039insC	ENST00000542585.1	+	0	3457				ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TATGAGGTAAGCCCCCCGGGAT	0.545													C	100353039	-	C	100353038	6	5	592	0	1	1	1	0	0	0	0	0	17615	986	34	0		0	ZAN	7	100353038	RNA	INS	-	TCGA-HT-8564-01A-11D-2395-08	662051	100353038	58785625	234	49472											
ZAN	7455	broad.mit.edu	37	chr7	100390125	100390125	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatcctctgccaggaggCgggcgctgccctggctggct	3	7	15	16	3	1	0	0	0	1	0	2	1	2	1	4	5	2	3	4	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:100390125C>T	ENST00000542585.1	+	0	7956				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TGCCAGGAGGCGGGCGCTGCC	0.672													T	100390125	C	T	100390125	1	4	592	0	1	0	0	0	0	0	0	0	17615	768	27	1		1	ZAN	7	100390125	RNA	SNP	C	TCGA-HT-8564-01A-11D-2395-08	37087	100390125	58748538	235	49473											
FBXL13	222235	broad.mit.edu	37	chr7	102669158	102669158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcattttttcagccaggaCgacattttcatttgtacgag	9	16	8	8	2	3	0	3	0	0	0	3	3	3	1	1	1	2	2	1	1	1	8	rs147832645	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:102669158C>T	ENST00000393772.2	-	4	532	c.106G>A	c.(106-108)Gtc>Atc	p.V36I	FBXL13_ENST00000379306.3_Missense_Mutation_p.V36I|FBXL13_ENST00000471074.1_Intron|FBXL13_ENST00000455112.2_Missense_Mutation_p.V36I|FBXL13_ENST00000436908.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379308.3_Missense_Mutation_p.V36I|FBXL13_ENST00000313221.4_Missense_Mutation_p.V36I|FBXL13_ENST00000456695.1_Missense_Mutation_p.V36I|FBXL13_ENST00000379305.3_Missense_Mutation_p.V36I			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	36								p.V36F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TCAGCCAGGACGACATTTTCA	0.343													T	102669158	C	T	102669158	3	4	592	1	0	0	0	0	1	0	0	0	5758	536	19	1	2169	1	FBXL13	7	102669158	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2279033	102669158	56469505	236	49474											
TFEC	22797	broad.mit.edu	37	chr7	115590971	115590971	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgccaagctccttgattcGgtaattaatattataccttc	11	15	6	9	1	0	1	0	1	0	0	3	1	1	1	3	1	3	2	3	1	6	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:115590971G>A	ENST00000265440.7	-	6	652	c.472C>T	c.(472-474)Cga>Tga	p.R158*	TFEC_ENST00000393485.1_Nonsense_Mutation_p.R129*|TFEC_ENST00000320239.7_Nonsense_Mutation_p.R129*|TFEC_ENST00000457268.1_Nonsense_Mutation_p.R91*|TFEC_ENST00000484212.1_Nonsense_Mutation_p.R248*	NM_012252.3	NP_036384.1	O14948	TFEC_HUMAN	transcription factor EC	158	Helix-loop-helix motif.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			NS(1)|kidney(1)|large_intestine(5)|lung(13)|prostate(2)|skin(1)|urinary_tract(2)	25			STAD - Stomach adenocarcinoma(10;0.00878)			TCCTTGATTCGGTAATTAATA	0.299													A	115590971	G	A	115590971	4	1	592	1	0	0	0	0	0	1	0	0	15902	1124	39	1	583	1	TFEC	7	115590971	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12921813	115590971	43547692	237	49475											
CADPS2	93664	broad.mit.edu	37	chr7	121965555	121965555	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acaatcttgatgagcgtcttCagctggtaaatatggagttg	11	13	11	6	1	3	2	1	2	2	0	3	3	3	3	0	2	2	3	0	2	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:121965555C>G	ENST00000334010.7	-	27	4108	c.3687G>C	c.(3685-3687)ctG>ctC	p.L1229L	CADPS2_ENST00000412584.2_Silent_p.L1190L|CADPS2_ENST00000449022.2_Silent_p.L1231L|CADPS2_ENST00000313070.7_Silent_p.L1190L	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	1231					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TGAGCGTCTTCAGCTGGTAAA	0.398													G	121965555	C	G	121965555	2	3	592	1	0	0	0	0	0	0	0	1	2597	813	29	4		4	CADPS2	7	121965555	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6374584	121965555	37173108	238	49476											
FLNC	2318	broad.mit.edu	37	chr7	128483620	128483620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctacactgtcaagtacaccGctgtccagcaggtgcgctct	8	9	9	15	2	2	0	1	0	1	0	3	0	3	0	3	1	4	4	3	1	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:128483620G>A	ENST00000325888.8	+	18	3061	c.2800G>A	c.(2800-2802)Gct>Act	p.A934T	FLNC_ENST00000346177.6_Missense_Mutation_p.A934T	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	934					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CAAGTACACCGCTGTCCAGCA	0.612													A	128483620	G	A	128483620	3	1	592	1	0	0	0	0	1	0	0	0	5984	1087	38	1	2870	1	FLNC	7	128483620	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6518065	128483620	30655043	239	49477											
SLC13A4	26266	broad.mit.edu	37	chr7	135375977	135375977	+	Frame_Shift_Del	DEL	C	C	-																															cagaagccagagcatagcctCccccaaccagaatgacaatc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:135375977delC	ENST00000354042.4	-	13	2104	c.1415delG	c.(1414-1416)ggafs	p.G473fs	C7orf73_ENST00000422968.1_Intron	NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	473						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						AGCATAGCCTCCCCCAACCAG	0.507													-	135375977	C	-	135375977	7	5	592	1	0	1	0	1	0	0	0	0	14488	855	30	0	481	0	SLC13A4	7	135375977	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	6892357	135375977	23762686	240	49478											
MGAM	8972	broad.mit.edu	37	chr7	141724872	141724872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaactaatttgtatggtgCgcagacattcttcttgtgcc	8	14	10	9	2	2	1	0	0	2	1	2	2	2	2	1	2	3	2	1	2	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:141724872C>T	ENST00000475668.2	+	8	959	c.905C>T	c.(904-906)gCg>gTg	p.A302V	MGAM_ENST00000549489.2_Missense_Mutation_p.A302V			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	302	Maltase.				polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	TTGTATGGTGCGCAGACATTC	0.398													T	141724872	C	T	141724872	3	4	592	1	0	0	0	0	1	0	0	0	9616	768	27	1	931	1	MGAM	7	141724872	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6348895	141724872	17413791	241	49479											
EPHB6	2051	broad.mit.edu	37	chr7	142561447	142561448	+	Frame_Shift_Ins	INS	-	-	G																															gctggctcacctacccaccaINSgggggggtgagtgccactct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:142561447_142561448insG	ENST00000392957.2	+	6	946_947	c.159_160insG	c.(160-162)gggfs	p.G54fs	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Frame_Shift_Ins_p.G54fs	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	54						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					CCTACCCACCAGGGGGGGTGAG	0.574													G	142561448	-	G	142561447	7	5	592	1	0	1	1	0	0	0	0	0	5219	175	7	0	165	0	EPHB6	7	142561447	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	836575	142561447	16577216	242	49480											
NOBOX	135935	broad.mit.edu	37	chr7	144096159	144096159	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaagggggaaaggaagatcGgcccttcgcacaggtggggg	10	4	18	9	2	0	1	0	0	0	1	2	3	0	3	2	7	0	1	2	7	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:144096159G>A	ENST00000467773.1	-	8	1352	c.1353C>T	c.(1351-1353)gcC>gcT	p.A451A	NOBOX_ENST00000483238.1_Silent_p.A419A|NOBOX_ENST00000223140.5_Silent_p.A334A	NM_001080413.3	NP_001073882.3	O60393	NOBOX_HUMAN	NOBOX oogenesis homeobox	451	Pro-rich.				cell differentiation|oogenesis	nucleus	sequence-specific DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)	26	Melanoma(164;0.14)					AAGGAAGATCGGCCCTTCGCA	0.632													A	144096159	G	A	144096159	2	1	592	1	0	0	0	0	0	0	0	1	10588	1103	39	1		1	NOBOX	7	144096159	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1534712	144096159	15042504	243	49481											
CNTNAP2	26047	broad.mit.edu	37	chr7	147600796	147600796	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtactactgtaactgcgaCgcggactacaagcaatggtg	13	8	11	9	3	0	0	0	0	0	0	0	2	0	1	0	2	6	3	0	2	7	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:147600796C>T	ENST00000361727.3	+	14	2754	c.2238C>T	c.(2236-2238)gaC>gaT	p.D746D		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	746	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			GTAACTGCGACGCGGACTACA	0.537										HNSCC(39;0.1)			T	147600796	C	T	147600796	2	4	592	1	0	0	0	0	0	0	0	1	3678	535	19	1		1	CNTNAP2	7	147600796	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3504637	147600796	11537867	244	49482											
SSPO	23145	broad.mit.edu	37	chr7	149506123	149506123	+	RNA	DEL	C	C	-																															ctgcagtgacctgggcaccaCccccaggtcctggtggggag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:149506123delC	ENST00000378016.2	+	0	9121							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGGGCACCACCCCCAGGTCC	0.701													-	149506123	C	-	149506123	6	5	592	0	1	1	0	1	0	0	0	0	15285	522	18	0		0	SSPO	7	149506123	RNA	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1905327	149506123	9632540	245	49483											
SLC4A2	6522	broad.mit.edu	37	chr7	150761737	150761737	+	Frame_Shift_Del	DEL	G	G	-																															aggcgcccgggagcctccccGactggagaaaccccgaccat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:150761737delG	ENST00000485713.1	+	4	1382	c.342delG	c.(340-342)ccgfs	p.P114fs	SLC4A2_ENST00000413384.2_Frame_Shift_Del_p.P114fs|SLC4A2_ENST00000310317.5_Frame_Shift_Del_p.P32fs|SLC4A2_ENST00000392826.2_Frame_Shift_Del_p.P105fs|SLC4A2_ENST00000461735.1_Frame_Shift_Del_p.P100fs	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	114	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GAGCCTCCCCGACTGGAGAAA	0.687													-	150761737	G	-	150761737	7	5	592	1	0	1	0	1	0	0	0	0	14748	1045	37	0	352	0	SLC4A2	7	150761737	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	1255614	150761737	8376926	246	49484											
HTR5A	3361	broad.mit.edu	37	chr7	154862918	154862918	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctggtgcacgagctgtcCgggcgccgctggcagctagg	5	6	17	13	4	0	0	0	0	0	0	1	1	1	0	3	4	4	5	3	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:154862918C>T	ENST00000287907.2	+	1	885	c.309C>T	c.(307-309)tcC>tcT	p.S103S	HTR5A-AS1_ENST00000543018.1_Silent_p.P32P|HTR5A-AS1_ENST00000395731.2_Silent_p.P32P|HTR5A-AS1_ENST00000493904.1_5'UTR	NM_024012.3	NP_076917.1	P47898	5HT5A_HUMAN	5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled	103						integral to plasma membrane	serotonin receptor activity			NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(3)|stomach(1)	48	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0238)	UCEC - Uterine corpus endometrioid carcinoma (81;0.171)		ACGAGCTGTCCGGGCGCCGCT	0.677													T	154862918	C	T	154862918	2	4	592	1	0	0	0	0	0	0	0	1	7508	639	23	1		1	HTR5A	7	154862918	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4101181	154862918	4275745	247	49485											
RBM33	155435	broad.mit.edu	37	chr7	155457901	155457901	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagtttgataagcctggcGcggaacggtcgtggagaaga	11	7	15	8	4	0	3	0	1	0	2	1	5	0	4	2	4	2	1	2	4	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr7:155457901G>A	ENST00000401878.3	+	2	274	c.76G>A	c.(76-78)Gcg>Acg	p.A26T	RBM33_ENST00000287912.3_Missense_Mutation_p.A26T|RBM33_ENST00000392759.3_Missense_Mutation_p.A26T	NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	26							nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		TAAGCCTGGCGCGGAACGGTC	0.453													A	155457901	G	A	155457901	3	1	592	1	0	0	0	0	1	0	0	0	13218	1087	38	1	82	1	RBM33	7	155457901	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	594983	155457901	3680762	248	49486											
PRSS55	203074	broad.mit.edu	37	chr8	10383214	10383214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggctaggggagcccaccGccctcagccccctcatcccc	6	4	10	21	1	2	0	2	0	0	0	3	1	3	1	7	3	2	1	7	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:10383214G>A	ENST00000328655.3	+	1	159	c.119G>A	c.(118-120)cGc>cAc	p.R40H	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Missense_Mutation_p.R40H	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	40					proteolysis	integral to membrane	serine-type endopeptidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						GGAGCCCACCGCCCTCAGCCC	0.662													A	10383214	G	A	10383214	3	1	592	1	0	0	0	0	1	0	0	0	12719	1087	38	1	121	1	PRSS55	8	10383214	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		10383214	135980808	249	49487											
FAM167A	83648	broad.mit.edu	37	chr8	11301958	11301958	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccggacatgcgagggcaCggggggcgcagggggaggct	7	2	22	10	4	0	0	0	0	0	0	0	3	0	2	1	8	2	3	1	8	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:11301958C>T	ENST00000284486.4	-	0	501				FAM167A_ENST00000528897.1_De_novo_Start_OutOfFrame|FAM167A_ENST00000534308.1_De_novo_Start_OutOfFrame	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A											breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						TGCGAGGGCACGGGGGGCGCA	0.682													T	11301958	C	T	11301958	1	4	592	1	0	0	0	0	0	0	0	0	5528	551	19	1		1	FAM167A	8	11301958	Translation_Start_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	918744	11301958	135062064	250	49488											
BMP1	649	broad.mit.edu	37	chr8	22037987	22037987	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgcatctctgtcacaccCggggagaaggtacgtgtggg	7	8	16	10	3	2	1	1	0	1	1	3	2	2	1	1	5	1	2	1	5	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:22037987C>T	ENST00000306385.5	+	8	1738	c.1068C>T	c.(1066-1068)ccC>ccT	p.P356P	BMP1_ENST00000397816.3_Silent_p.P356P|BMP1_ENST00000306349.8_Silent_p.P356P|BMP1_ENST00000354870.5_3'UTR|BMP1_ENST00000397814.3_Silent_p.P356P	NM_006129.4	NP_006120.1	P13497	BMP1_HUMAN	bone morphogenetic protein 1	356	CUB 1.				cartilage condensation|cell differentiation|lipid metabolic process|lipoprotein metabolic process|ossification|positive regulation of cartilage development|proteolysis	extracellular space	calcium ion binding|cytokine activity|growth factor activity|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(3)	30				Colorectal(74;0.00229)|COAD - Colon adenocarcinoma(73;0.0661)|READ - Rectum adenocarcinoma(644;0.11)		CTGTCACACCCGGGGAGAAGG	0.612													T	22037987	C	T	22037987	2	4	592	1	0	0	0	0	0	0	0	1	1462	639	23	1		1	BMP1	8	22037987	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10736029	22037987	124326035	251	49489											
CLU	1191	broad.mit.edu	37	chr8	27468075	27468076	+	Frame_Shift_Del	DEL	AG	AG	-																															gcagccccacaaacagcagcAgagtcttcatcatgcctcca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:27468075_27468076delAG	ENST00000316403.10	-	2	418_419	c.13_14delCT	c.(13-15)ctgfs	p.L7fs	CLU_ENST00000405140.3_Frame_Shift_Del_p.L7fs|CLU_ENST00000523500.1_Frame_Shift_Del_p.L7fs|CLU_ENST00000546343.1_Frame_Shift_Del_p.L18fs|CLU_ENST00000560366.1_Frame_Shift_Del_p.L59fs			P10909	CLUS_HUMAN	clusterin	7					chaperone-mediated protein folding|complement activation, classical pathway|innate immune response|lipid metabolic process|negative regulation of apoptosis|negative regulation of protein homooligomerization|platelet activation|platelet degranulation|positive regulation of NF-kappaB transcription factor activity|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|response to misfolded protein|response to virus|reverse cholesterol transport	chromaffin granule|cytosol|endoplasmic reticulum|microsome|mitochondrial membrane|nucleus|perinuclear region of cytoplasm|platelet alpha granule lumen|spherical high-density lipoprotein particle	misfolded protein binding|ubiquitin protein ligase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)	21		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0204)|Colorectal(74;0.132)		AAACAGCAGCAGAGTCTTCATC	0.584													-	27468076	AG	-	27468075	7	5	592	1	0	1	0	1	0	0	0	0	3599	188	7	0	1367	0	CLU	8	27468075	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	5430088	27468075	118895947	252	49490											
KIF13B	23303	broad.mit.edu	37	chr8	28989840	28989840	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcacctgtcccgaagactaCgtgtctttgcttggatgatt	7	15	9	10	2	2	2	1	1	1	1	3	4	3	3	2	1	2	1	2	1	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:28989840C>T	ENST00000524189.1	-	23	2965	c.2927G>A	c.(2926-2928)cGt>cAt	p.R976H	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	976					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		CCGAAGACTACGTGTCTTTGC	0.388													T	28989840	C	T	28989840	3	4	592	1	0	0	0	0	1	0	0	0	8333	536	19	1	2625	1	KIF13B	8	28989840	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1521765	28989840	117374182	253	49491											
HTRA4	203100	broad.mit.edu	37	chr8	38840023	38840023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcctttccaggaaaggCgttttcaaataagaaatatc	14	13	6	8	1	1	1	1	0	0	1	4	2	3	2	2	2	0	1	2	2	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:38840023C>T	ENST00000302495.4	+	7	1221	c.1121C>T	c.(1120-1122)gCg>gTg	p.A374V		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	374					proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CCAGGAAAGGCGTTTTCAAAT	0.428													T	38840023	C	T	38840023	3	4	592	1	0	0	0	0	1	0	0	0	7514	768	27	1	1147	1	HTRA4	8	38840023	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9850183	38840023	107523999	254	49492											
ANK1	286	broad.mit.edu	37	chr8	41554024	41554024	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgctgcgcacgtccgtggCgggatcaccactcgcaggcc	5	5	15	16	6	1	0	1	0	0	0	3	1	2	1	3	4	1	3	3	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41554024C>T	ENST00000396942.1	-	26	2900	c.2817G>A	c.(2815-2817)ccG>ccA	p.P939P	ANK1_ENST00000396945.1_Silent_p.P939P|ANK1_ENST00000265709.8_Silent_p.P980P|ANK1_ENST00000379758.2_Silent_p.P939P|ANK1_ENST00000352337.4_Silent_p.P939P|ANK1_ENST00000347528.4_Silent_p.P939P|ANK1_ENST00000289734.7_Silent_p.P939P			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	939	ZU5.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			ACGTCCGTGGCGGGATCACCA	0.677													T	41554024	C	T	41554024	2	4	592	1	0	0	0	0	0	0	0	1	620	755	27	1		1	ANK1	8	41554024	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2714001	41554024	104809998	255	49493											
ANK1	286	broad.mit.edu	37	chr8	41577305	41577305	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtcgtctatctctgcgtcGtattgcaacaggagccggac	8	11	11	11	4	2	0	0	0	2	0	5	2	2	2	1	2	4	2	1	2	3	3	rs61758867	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:41577305G>A	ENST00000396942.1	-	10	1064	c.981C>T	c.(979-981)taC>taT	p.Y327Y	ANK1_ENST00000396945.1_Silent_p.Y327Y|ANK1_ENST00000265709.8_Silent_p.Y360Y|ANK1_ENST00000379758.2_Silent_p.Y327Y|ANK1_ENST00000352337.4_Silent_p.Y327Y|ANK1_ENST00000347528.4_Silent_p.Y327Y|ANK1_ENST00000289734.7_Silent_p.Y327Y			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	327	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TCTCTGCGTCGTATTGCAACA	0.567													A	41577305	G	A	41577305	2	1	592	1	0	0	0	0	0	0	0	1	620	1140	40	1		1	ANK1	8	41577305	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	23281	41577305	104786717	256	49494											
MTFR1	9650	broad.mit.edu	37	chr8	66620197	66620197	+	Frame_Shift_Del	DEL	A	A	-																															tgatagccaagatgaagttgAaaaaggaattccaaagtctg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:66620197delA	ENST00000262146.4	+	7	1010	c.884delA	c.(883-885)gaafs	p.E295fs	MTFR1_ENST00000458689.2_Frame_Shift_Del_p.E262fs|MTFR1_ENST00000517944.1_3'UTR	NM_014637.3	NP_055452.3	Q15390	MTFR1_HUMAN	mitochondrial fission regulator 1	295						mitochondrion|plasma membrane				cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|pancreas(1)|urinary_tract(1)	11			Epithelial(68;0.0526)|BRCA - Breast invasive adenocarcinoma(89;0.156)|all cancers(69;0.171)|OV - Ovarian serous cystadenocarcinoma(28;0.194)			GATGAAGTTGAAAAAGGAATT	0.443													-	66620197	A	-	66620197	7	5	592	1	0	1	0	1	0	0	0	0	10001	246	9	0	906	0	MTFR1	8	66620197	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	25042892	66620197	79743825	257	49495											
PI15	51050	broad.mit.edu	37	chr8	75737579	75737579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caattccactgactcatcccCgccaaccaataatttcactg	12	10	3	16	1	2	1	2	1	0	0	4	1	4	1	5	0	1	0	5	0	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:75737579C>T	ENST00000260113.2	+	2	274	c.95C>T	c.(94-96)cCg>cTg	p.P32L	PI15_ENST00000523773.1_Missense_Mutation_p.P32L|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000518128.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	32						extracellular region	peptidase inhibitor activity	p.P32Q(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			GACTCATCCCCGCCAACCAAT	0.478													T	75737579	C	T	75737579	3	4	592	1	0	0	0	0	1	0	0	0	11945	652	23	1	97	1	PI15	8	75737579	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9117382	75737579	70626443	258	49496											
CPNE3	8895	broad.mit.edu	37	chr8	87559941	87559941	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttttctcttatttttagatTacagtagaatgcacattcct	10	19	5	7	0	1	2	0	0	1	2	3	2	2	2	1	0	2	3	1	0	5	9			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:87559941T>C	ENST00000521271.1	+	11	984	c.822T>C	c.(820-822)atT>atC	p.I274I	CPNE3_ENST00000198765.4_Silent_p.I274I	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	274					lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						ATTTTTAGATTACAGTAGAAT	0.308													C	87559941	T	C	87559941	2	2	592	1	0	0	0	0	0	0	0	1	3844	1742	61	3		3	CPNE3	8	87559941	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	11822362	87559941	58804081	259	49497											
RUNX1T1	862	broad.mit.edu	37	chr8	92972726	92972726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggtttcactcgctttaCggccacaattccagcaactc	9	11	7	14	2	1	0	1	0	0	0	4	0	2	0	2	2	4	4	2	2	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:92972726C>T	ENST00000523629.1	-	12	2013	c.1559G>A	c.(1558-1560)cGt>cAt	p.R520H	RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R520H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R483H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R493H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R531H|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R483H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R493H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	520					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R483H(2)|p.R520H(2)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			ACTCGCTTTACGGCCACAATT	0.458													T	92972726	C	T	92972726	3	4	592	1	0	0	0	0	1	0	0	0	13838	536	19	1	259	1	RUNX1T1	8	92972726	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5412785	92972726	53391296	260	49498											
VPS13B	157680	broad.mit.edu	37	chr8	100796702	100796702	+	Frame_Shift_Del	DEL	C	C	-																															ggcgctctcacaaatccccaCaggtatttgagaaacaccct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:100796702delC	ENST00000358544.2	+	43	8125	c.8014delC	c.(8014-8016)cagfs	p.Q2672fs	VPS13B_ENST00000357162.2_Frame_Shift_Del_p.Q2647fs|VPS13B_ENST00000395996.1_3'UTR	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2672					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CAAATCCCCACAGGTATTTGA	0.468													-	100796702	C	-	100796702	7	5	592	1	0	1	0	1	0	0	0	0	17292	479	17	0	8374	0	VPS13B	8	100796702	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	7823976	100796702	45567320	261	49499											
GPR20	2843	broad.mit.edu	37	chr8	142367203	142367203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtggtagaccacgaggctcGtgtggtgtggcatgtcgggc	5	9	18	9	4	0	1	0	0	0	1	2	2	0	1	1	5	0	3	1	5	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:142367203G>A	ENST00000377741.3	-	2	911	c.821C>T	c.(820-822)aCg>aTg	p.T274M		NM_005293.2	NP_005284.2	Q99678	GPR20_HUMAN	G protein-coupled receptor 20	274						integral to plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(3)|lung(4)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	15	all_cancers(97;4.32e-16)|all_epithelial(106;6.61e-14)|Lung NSC(106;9.4e-06)|all_lung(105;1.35e-05)|Ovarian(258;0.0303)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0415)			CACGAGGCTCGTGTGGTGTGG	0.637													A	142367203	G	A	142367203	3	1	592	1	0	0	0	0	1	0	0	0	6734	1145	40	1	259	1	GPR20	8	142367203	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	41570501	142367203	3996819	262	49500											
ARC	23237	broad.mit.edu	37	chr8	143694472	143694472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgggtccggtcactggccacGgactcgctgttgggggcggg	3	8	19	11	4	1	0	1	0	0	0	3	1	2	1	2	7	0	2	2	7	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:143694472G>A	ENST00000356613.2	-	1	2361	c.1161C>T	c.(1159-1161)tcC>tcT	p.S387S		NM_015193.4	NP_056008.1	Q7LC44	ARC_HUMAN	activity-regulated cytoskeleton-associated protein	387					endocytosis	acrosomal vesicle|cell junction|dendritic spine|endosome|postsynaptic density|postsynaptic membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(3)|upper_aerodigestive_tract(1)	13	all_cancers(97;3.55e-12)|all_epithelial(106;1.03e-08)|Lung NSC(106;0.000353)|all_lung(105;0.00092)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;0.0279)				CACTGGCCACGGACTCGCTGT	0.701													A	143694472	G	A	143694472	2	1	592	1	0	0	0	0	0	0	0	1	844	1103	39	1		1	ARC	8	143694472	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1327269	143694472	2669550	263	49501											
ZFP41	286128	broad.mit.edu	37	chr8	144332526	144332526	+	Silent	SNP	C	C	T																															cacaccggggagaagccctaCgaatgcacgcactgtgggaa																								rs149671213		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332526C>T	ENST00000330701.4	+	2	882	c.513C>T	c.(511-513)taC>taT	p.Y171Y	ZFP41_ENST00000522452.1_Silent_p.Y171Y|ZFP41_ENST00000520584.1_Silent_p.Y171Y	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	171					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			AGAAGCCCTACGAATGCACGC	0.592													T	144332526	C	T	144332526	2	4	592	1	0	0	0	0	0	0	0	1	17750	547	19	1		1	ZFP41	8	144332526	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	638054	144332526	2031496	264	49502	159	2									
ZFP41	286128	broad.mit.edu	37	chr8	144332534	144332534	+	Missense_Mutation	SNP	C	C	T																															ggagaagccctacgaatgcaCgcactgtgggaaagcctttg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144332534C>T	ENST00000330701.4	+	2	890	c.521C>T	c.(520-522)aCg>aTg	p.T174M	ZFP41_ENST00000522452.1_Missense_Mutation_p.T174M|ZFP41_ENST00000520584.1_Missense_Mutation_p.T174M	NM_173832.4	NP_776193.1	Q8N8Y5	ZFP41_HUMAN	ZFP41 zinc finger protein	174					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|lung(4)|ovary(1)	8	all_cancers(97;1.01e-10)|all_epithelial(106;4.6e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)			TACGAATGCACGCACTGTGGG	0.592													T	144332534	C	T	144332534	3	4	592	1	0	0	0	0	1	0	0	0	17750	536	19	1	523	1	ZFP41	8	144332534	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8	144332534	2031488	265	49503	159	2									
PLEC	5339	broad.mit.edu	37	chr8	144991396	144991396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcgtactggcgcccggagCggcggtcgatgatcatggac	6	8	16	11	6	1	1	1	1	0	0	3	4	1	3	1	5	2	1	1	5	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144991396C>T	ENST00000322810.4	-	32	13173	c.13004G>A	c.(13003-13005)cGc>cAc	p.R4335H	PLEC_ENST00000527096.1_Missense_Mutation_p.R4221H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4184H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4176H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4198H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4202H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4225H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4166H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4198H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4335	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GCGCCCGGAGCGGCGGTCGAT	0.637													T	144991396	C	T	144991396	3	4	592	1	0	0	0	0	1	0	0	0	12129	768	27	1	1054	1	PLEC	8	144991396	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	658862	144991396	1372626	266	49504											
PLEC	5339	broad.mit.edu	37	chr8	144999421	144999421	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccacctgtacctgccgcgctCgctccacctcggcctgccgc	3	7	9	22	5	0	0	0	0	0	0	3	0	1	0	8	1	3	3	8	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:144999421C>T	ENST00000322810.4	-	31	5256	c.5087G>A	c.(5086-5088)cGa>cAa	p.R1696Q	PLEC_ENST00000527096.1_Missense_Mutation_p.R1582Q|PLEC_ENST00000356346.3_Missense_Mutation_p.R1545Q|PLEC_ENST00000354958.2_Missense_Mutation_p.R1537Q|PLEC_ENST00000354589.3_Missense_Mutation_p.R1559Q|PLEC_ENST00000357649.2_Missense_Mutation_p.R1563Q|PLEC_ENST00000436759.2_Missense_Mutation_p.R1586Q|PLEC_ENST00000398774.2_Missense_Mutation_p.R1527Q|PLEC_ENST00000345136.3_Missense_Mutation_p.R1559Q	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	1696	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CTGCCGCGCTCGCTCCACCTC	0.741													T	144999421	C	T	144999421	3	4	592	1	0	0	0	0	1	0	0	0	12129	884	31	1	8975	1	PLEC	8	144999421	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8025	144999421	1364601	267	49505											
PARP10	84875	broad.mit.edu	37	chr8	145058234	145058234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtccacagggtgtgggcGttgccagggagcactgggag	6	6	21	8	1	0	0	0	0	0	0	1	2	1	2	2	6	2	2	2	6	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr8:145058234G>A	ENST00000313028.7	-	7	1813	c.1719C>T	c.(1717-1719)aaC>aaT	p.N573N	PARP10_ENST00000525773.1_Silent_p.N585N|PARP10_ENST00000524918.1_Silent_p.N573N	NM_032789.3	NP_116178.2	Q53GL7	PAR10_HUMAN	poly (ADP-ribose) polymerase family, member 10	573						Golgi apparatus|nucleolus	NAD+ ADP-ribosyltransferase activity|nucleotide binding			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(2)	27	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGGTGTGGGCGTTGCCAGGGA	0.662													A	145058234	G	A	145058234	2	1	592	1	0	0	0	0	0	0	0	1	11531	1136	40	1		1	PARP10	8	145058234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	58813	145058234	1305788	268	49506											
FOXD4	2298	broad.mit.edu	37	chr9	117366	117367	+	Frame_Shift_Ins	INS	-	-	G																															agagcgtaagggcgtctcccINSggggccggtgttggggtagg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:117366_117367insG	ENST00000382500.2	-	1	1050_1051	c.753_754insC	c.(751-756)cccgggfs	p.G252fs		NM_207305.4	NP_997188.2	Q12950	FOXD4_HUMAN	forkhead box D4	252	Pro-rich.				axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(5)|large_intestine(2)|lung(3)|prostate(1)|skin(3)	14	all_lung(41;0.218)	all_cancers(5;0.0395)|Acute lymphoblastic leukemia(5;1.91e-07)|all_hematologic(5;1.95e-06)	Kidney(42;0.112)|KIRC - Kidney renal clear cell carcinoma(5;0.157)	all cancers(5;0.000704)|Lung(218;0.00755)|GBM - Glioblastoma multiforme(5;0.0149)|Epithelial(6;0.0154)		GGGCGTCTCCCGGGGCCGGTGT	0.728													G	117367	-	G	117366	7	5	592	1	0	1	1	0	0	0	0	0	6048	652	23	0	569	0	FOXD4	9	117366	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08		117366	141096065	269	49507											
KDM4C	23081	broad.mit.edu	37	chr9	6990511	6990511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttgtgaagcagcaggcGccaagtgatgaaggtgagat	12	8	14	7	1	1	4	0	4	1	1	1	5	1	4	1	2	2	2	1	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:6990511G>A	ENST00000381309.3	+	12	2338	c.1773G>A	c.(1771-1773)gcG>gcA	p.A591A	KDM4C_ENST00000535193.1_Silent_p.A613A|KDM4C_ENST00000442236.2_Intron|KDM4C_ENST00000381306.3_Silent_p.A591A|KDM4C_ENST00000536108.1_Silent_p.A410A|KDM4C_ENST00000543771.1_Silent_p.A591A|KDM4C_ENST00000428870.2_Silent_p.A278A	NM_015061.3	NP_055876.2	Q9H3R0	KDM4C_HUMAN	lysine (K)-specific demethylase 4C	591					positive regulation of cell proliferation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	nuclear chromatin	androgen receptor binding|enzyme binding|histone demethylase activity (H3-K9 specific)|nucleic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43						AGCAGCAGGCGCCAAGTGATG	0.408													A	6990511	G	A	6990511	2	1	592	1	0	0	0	0	0	0	0	1	8188	1074	38	1		1	KDM4C	9	6990511	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6873145	6990511	134222920	270	49508											
PTPRD	5789	broad.mit.edu	37	chr9	8636794	8636794	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagatgaaagaggcaactcCgccagagacccctgtctgat	12	6	11	12	1	1	5	0	2	1	3	2	6	2	5	4	1	1	2	4	1	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:8636794C>T	ENST00000381196.4	-	10	658	c.115G>A	c.(115-117)Gga>Aga	p.G39R	PTPRD_ENST00000397611.3_Missense_Mutation_p.G39R|PTPRD_ENST00000486161.1_Missense_Mutation_p.G39R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G39R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G39R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G39R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G39R|PTPRD_ENST00000463477.1_Missense_Mutation_p.G39R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G39R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G39R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G39R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G39R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	39	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	p.G39*(4)		NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		GAGGCAACTCCGCCAGAGACC	0.413										TSP Lung(15;0.13)			T	8636794	C	T	8636794	3	4	592	1	0	0	0	0	1	0	0	0	12887	661	23	1	5827	1	PTPRD	9	8636794	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1646283	8636794	132576637	271	49509											
CCIN	881	broad.mit.edu	37	chr9	36170732	36170732	+	Frame_Shift_Del	DEL	C	C	-																															ctggcaggaaagatgagcatCcccatggatggcaccgccgt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:36170732delC	ENST00000335119.2	+	1	1344	c.1233delC	c.(1231-1233)atcfs	p.I411fs		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	411					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			AGATGAGCATCCCCATGGATG	0.552													-	36170732	C	-	36170732	7	5	592	1	0	1	0	1	0	0	0	0	2906	845	30	0	1235	0	CCIN	9	36170732	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	27533938	36170732	105042699	272	49510											
ZNF658	26149	broad.mit.edu	37	chr9	40774426	40774426	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actttattgtattcaacagcGgtggttttgtcacaggatgt	9	16	10	6	1	2	0	2	0	0	0	2	1	2	1	0	3	2	2	0	3	3	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:40774426G>A	ENST00000602553.1	-	5	1143	c.849C>T	c.(847-849)acC>acT	p.T283T	ZNF658_ENST00000441795.1_Silent_p.T281T|ZNF658_ENST00000377626.3_Silent_p.T283T			Q5TYW1	ZN658_HUMAN	zinc finger protein 658	283					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATTCAACAGCGGTGGTTTTGT	0.383													A	40774426	G	A	40774426	2	1	592	1	0	0	0	0	0	0	0	1	18170	1103	39	1		1	ZNF658	9	40774426	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4603694	40774426	100439005	273	49511											
TRPM6	140803	broad.mit.edu	37	chr9	77376996	77376996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagggcctgtatctgcGgagaggattgatccaaaagg	12	7	15	7	2	1	2	0	1	1	1	2	5	2	3	2	4	2	1	2	4	4	2	rs141526694	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77376996G>A	ENST00000451710.3	-	26	4828	c.4591C>T	c.(4591-4593)Cgc>Tgc	p.R1531C	TRPM6_ENST00000376864.4_Missense_Mutation_p.R1531C|TRPM6_ENST00000360774.1_Missense_Mutation_p.R1531C|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Missense_Mutation_p.R1526C|TRPM6_ENST00000449912.2_Missense_Mutation_p.R1526C|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1531					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTGTATCTGCGGAGAGGATTG	0.423													A	77376996	G	A	77376996	3	1	592	1	0	0	0	0	1	0	0	0	16691	1116	39	1	1533	1	TRPM6	9	77376996	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	36602570	77376996	63836435	274	49512											
TRPM6	140803	broad.mit.edu	37	chr9	77390827	77390827	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtcaccctcttcttggtcGtgaggagctcgatgacagca	8	10	11	12	3	3	2	1	2	2	0	5	4	3	3	1	2	2	2	1	2	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:77390827G>A	ENST00000451710.3	-	24	3612	c.3375C>T	c.(3373-3375)caC>caT	p.H1125H	TRPM6_ENST00000376864.4_Silent_p.H1125H|TRPM6_ENST00000360774.1_Silent_p.H1125H|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.H1120H|TRPM6_ENST00000449912.2_Silent_p.H1120H|TRPM6_ENST00000376871.3_Intron			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	1125					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CTTCTTGGTCGTGAGGAGCTC	0.537													A	77390827	G	A	77390827	2	1	592	1	0	0	0	0	0	0	0	1	16691	1136	40	1		1	TRPM6	9	77390827	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13831	77390827	63822604	275	49513											
PCSK5	5125	broad.mit.edu	37	chr9	78943040	78943040	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgagaagtgctcaccctcCgagtactgggatgaggatgc	11	7	13	10	2	1	2	1	1	0	1	2	6	2	4	2	2	4	2	2	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:78943040C>T	ENST00000545128.1	+	32	4912	c.4374C>T	c.(4372-4374)tcC>tcT	p.S1458S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	676					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity	p.S1458S(1)		NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GCTCACCCTCCGAGTACTGGG	0.592													T	78943040	C	T	78943040	2	4	592	1	0	0	0	0	0	0	0	1	11679	667	23	1		1	PCSK5	9	78943040	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1552213	78943040	62270391	276	49514											
KIF27	55582	broad.mit.edu	37	chr9	86465050	86465050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagcaactgcatcttttgttCgtgttccttttgctggaggg	5	17	11	8	1	1	0	0	0	1	0	3	1	2	1	1	2	4	5	1	2	2	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:86465050C>T	ENST00000297814.2	-	16	3663	c.3520G>A	c.(3520-3522)Gaa>Aaa	p.E1174K	RP11-575L7.4_ENST00000586206.1_RNA|RP11-575L7.4_ENST00000589817.1_RNA|KIF27_ENST00000413982.1_Missense_Mutation_p.E1108K|RP11-575L7.4_ENST00000590813.1_RNA|RP11-575L7.4_ENST00000608866.1_RNA|RP11-575L7.4_ENST00000590368.1_RNA|KIF27_ENST00000334204.2_Missense_Mutation_p.E1077K|RP11-575L7.4_ENST00000591217.1_RNA	NM_017576.1	NP_060046.1	Q86VH2	KIF27_HUMAN	kinesin family member 27	1174					cilium assembly|microtubule-based movement	cilium|cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(7)|lung(17)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	43						ATCTTTTGTTCGTGTTCCTTT	0.423													T	86465050	C	T	86465050	3	4	592	1	0	0	0	0	1	0	0	0	8354	893	31	1	697	1	KIF27	9	86465050	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7522010	86465050	54748381	277	49515											
ZCCHC6	79670	broad.mit.edu	37	chr9	88967854	88967854	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtcattcatccaagcGggttgactgtagattgggtt	7	14	13	7	1	2	2	2	1	0	1	3	2	3	2	1	3	1	4	1	3	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:88967854G>A	ENST00000375961.2	-	2	475	c.261C>T	c.(259-261)ccC>ccT	p.P87P	ZCCHC6_ENST00000277141.6_5'UTR|ZCCHC6_ENST00000375963.3_Silent_p.P87P|ZCCHC6_ENST00000375960.2_Silent_p.P87P			Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	87					RNA 3'-end processing		nucleic acid binding|RNA uridylyltransferase activity|zinc ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TCATCCAAGCGGGTTGACTGT	0.433													A	88967854	G	A	88967854	2	1	592	1	0	0	0	0	0	0	0	1	17693	1103	39	1		1	ZCCHC6	9	88967854	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2502804	88967854	52245577	278	49516											
SEMA4D	10507	broad.mit.edu	37	chr9	91993634	91993634	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcctcagtctccatctgcGtctgagtcagcgaacttcag	7	10	10	14	3	6	1	3	1	3	0	7	2	6	1	2	1	3	0	2	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:91993634G>A	ENST00000450295.1	-	16	3350	c.2574C>T	c.(2572-2574)gaC>gaT	p.D858D	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.D858D|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000422704.2_Silent_p.D858D|SEMA4D_ENST00000356444.2_Silent_p.D858D|SEMA4D_ENST00000420987.1_Intron			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	858					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						CTCCATCTGCGTCTGAGTCAG	0.582													A	91993634	G	A	91993634	2	1	592	1	0	0	0	0	0	0	0	1	14127	1136	40	1		1	SEMA4D	9	91993634	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3025780	91993634	49219797	279	49517											
FGD3	89846	broad.mit.edu	37	chr9	95738979	95738979	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaggctgacaaggatgcCggcctggcccaggtaggctt	9	6	15	11	1	0	2	0	1	0	1	0	3	0	3	3	6	1	3	3	6	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:95738979C>T	ENST00000375482.3	+	3	937	c.441C>T	c.(439-441)gcC>gcT	p.A147A	FGD3_ENST00000416701.2_Silent_p.A147A|FGD3_ENST00000468206.1_3'UTR|FGD3_ENST00000337352.6_Silent_p.A147A	NM_001083536.1	NP_001077005.1	Q5JSP0	FGD3_HUMAN	FYVE, RhoGEF and PH domain containing 3	147					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|urinary_tract(1)	17						ACAAGGATGCCGGCCTGGCCC	0.637													T	95738979	C	T	95738979	2	4	592	1	0	0	0	0	0	0	0	1	5883	639	23	1		1	FGD3	9	95738979	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3745345	95738979	45474452	280	49518											
PTPN3	5774	broad.mit.edu	37	chr9	112166752	112166752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggatcagcaccgtcccGctttcgaggcccttctttag	7	11	9	14	3	2	0	1	0	1	0	4	2	3	1	3	2	2	2	3	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112166752G>A	ENST00000412145.1	-	14	4089	c.1536C>T	c.(1534-1536)agC>agT	p.S512S	PTPN3_ENST00000446349.1_Silent_p.S467S|PTPN3_ENST00000374541.2_Silent_p.S643S|PTPN3_ENST00000262539.3_Silent_p.S489S|PTPN3_ENST00000394827.3_Silent_p.S111S	NM_001145369.1|NM_001145371.1	NP_001138841.1|NP_001138843.1	P26045	PTN3_HUMAN	protein tyrosine phosphatase, non-receptor type 3	643	PDZ.				negative regulation of membrane protein ectodomain proteolysis|negative regulation of mitotic cell cycle	cytoplasm|cytoskeleton|internal side of plasma membrane	ATPase binding|cytoskeletal protein binding|phosphotyrosine binding|protein tyrosine phosphatase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	41						GCACCGTCCCGCTTTCGAGGC	0.572													A	112166752	G	A	112166752	2	1	592	1	0	0	0	0	0	0	0	1	12877	1078	38	1		1	PTPN3	9	112166752	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16427773	112166752	29046679	281	49519											
C9orf152	401546	broad.mit.edu	37	chr9	112963591	112963591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacaatgcatctccaggtgCgtgtgccatggagacttggg	10	9	13	9	1	1	1	0	0	1	1	2	2	1	1	2	3	4	1	2	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:112963591C>T	ENST00000400613.4	-	2	966	c.357G>A	c.(355-357)acG>acA	p.T119T	C9orf152_ENST00000473442.1_Intron	NM_001012993.2	NP_001013011.2	Q5JTZ5	CI152_HUMAN	chromosome 9 open reading frame 152	119										NS(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						TCTCCAGGTGCGTGTGCCATG	0.587													T	112963591	C	T	112963591	2	4	592	1	0	0	0	0	0	0	0	1	2489	755	27	1		1	C9orf152	9	112963591	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	796839	112963591	28249840	282	49520											
RGS3	5998	broad.mit.edu	37	chr9	116246504	116246506	+	In_Frame_Del	DEL	CTT	CTT	-																															gacccggctttccacgagcaCttcttcttgtaagagtctgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116246504_116246506delCTT	ENST00000374140.2	+	7	821_823	c.612_614delCTT	c.(610-615)cacttc>cac	p.F207del	RGS3_ENST00000317613.6_In_Frame_Del_p.F95del|RGS3_ENST00000350696.5_In_Frame_Del_p.F207del	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	207	C2.				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						TCCACGAGCACTTCTTCTTGTAA	0.473													-	116246506	CTT	-	116246504	7	5	592	1	0	1	0	1	0	0	0	0	13395	564	20	0	717	0	RGS3	9	116246504	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	3282913	116246504	24966927	283	49521											
ZNF618	114991	broad.mit.edu	37	chr9	116811427	116811427	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcggagatcaggacagtgtaCgtgacggattgccgggtgag	9	8	17	7	4	1	3	1	2	0	1	2	6	1	5	1	4	2	1	1	4	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:116811427C>T	ENST00000288466.7	+	14	1665	c.1566C>T	c.(1564-1566)taC>taT	p.Y522Y	ZNF618_ENST00000470105.1_3'UTR|ZNF618_ENST00000374126.5_Silent_p.Y615Y	NM_133374.2	NP_588615.2	Q5T7W0	ZN618_HUMAN	zinc finger protein 618	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|lung(10)|urinary_tract(1)	16						GGACAGTGTACGTGACGGATT	0.612													T	116811427	C	T	116811427	2	4	592	1	0	0	0	0	0	0	0	1	18143	547	19	1		1	ZNF618	9	116811427	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	564923	116811427	24402004	284	49522											
PAPPA	5069	broad.mit.edu	37	chr9	119097282	119097282	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggggtggccctccgttcCttcgacaactttgaccccgt	4	11	11	15	4	0	1	0	1	0	0	4	2	2	1	5	3	1	1	5	3	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:119097282C>A	ENST00000328252.3	+	13	3909	c.3540C>A	c.(3538-3540)tcC>tcA	p.S1180S	PAPPA_ENST00000534838.1_Silent_p.S218S	NM_002581.3	NP_002572.2	Q13219	PAPP1_HUMAN	pregnancy-associated plasma protein A, pappalysin 1	1180					cell differentiation|female pregnancy	cytoplasm|extracellular region|membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(9)|kidney(2)|large_intestine(23)|lung(33)|ovary(4)|pancreas(2)|prostate(5)|skin(7)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	98						CCCTCCGTTCCTTCGACAACT	0.642													A	119097282	C	A	119097282	2	1	592	1	0	0	0	0	0	0	0	1	11508	668	24	4		4	PAPPA	9	119097282	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2285855	119097282	22116149	285	49523											
TLR4	7099	broad.mit.edu	37	chr9	120476694	120476694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcagtttctgagcagtcGtgctggtatcatcttcattg	6	15	11	9	1	4	1	2	1	2	0	5	1	4	1	0	2	2	5	0	2	1	4	rs5030723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:120476694G>A	ENST00000355622.6	+	3	2389	c.2288G>A	c.(2287-2289)cGt>cAt	p.R763H	TLR4_ENST00000394487.4_Missense_Mutation_p.R723H|TLR4_ENST00000472304.1_3'UTR	NM_138554.4|NM_138557.2	NP_612564.1|NP_612567.1	O00206	TLR4_HUMAN	toll-like receptor 4	763	TIR.		R -> H (in dbSNP:rs5030723).		activation of MAPK activity|cellular response to mechanical stimulus|detection of fungus|detection of lipopolysaccharide|I-kappaB phosphorylation|innate immune response|intestinal epithelial structure maintenance|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of ERK1 and ERK2 cascade|negative regulation of interferon-gamma production|negative regulation of interleukin-17 production|negative regulation of interleukin-23 production|negative regulation of interleukin-6 production|negative regulation of osteoclast differentiation|negative regulation of tumor necrosis factor production|positive regulation of chemokine production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interferon-gamma production|positive regulation of interleukin-1 production|positive regulation of interleukin-10 production|positive regulation of interleukin-12 biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric-oxide synthase biosynthetic process|positive regulation of platelet activation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor biosynthetic process|positive regulation of tumor necrosis factor production|T-helper 1 type immune response|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	external side of plasma membrane|integral to plasma membrane|lipopolysaccharide receptor complex|perinuclear region of cytoplasm	lipopolysaccharide receptor activity|transmembrane receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(66)|ovary(4)|pancreas(1)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	103						CTGAGCAGTCGTGCTGGTATC	0.527													A	120476694	G	A	120476694	3	1	592	1	0	0	0	0	1	0	0	0	16053	1145	40	1	2298	1	TLR4	9	120476694	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1379412	120476694	20736737	286	49524											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123215886	123215886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgcttgaatctcagcaggtCgccctccgtggccacagtct	7	10	10	14	2	2	1	1	1	2	0	5	1	3	1	3	2	2	2	3	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123215886C>T	ENST00000349780.4	-	21	2820	c.2641G>A	c.(2641-2643)Gac>Aac	p.D881N	CDK5RAP2_ENST00000359309.3_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360190.4_Missense_Mutation_p.D881N|CDK5RAP2_ENST00000360822.3_Missense_Mutation_p.D849N	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	881					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						CTCAGCAGGTCGCCCTCCGTG	0.552													T	123215886	C	T	123215886	3	4	592	1	0	0	0	0	1	0	0	0	3176	884	31	1	3112	1	CDK5RAP2	9	123215886	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2739192	123215886	17997545	287	49525											
CDK5RAP2	55755	broad.mit.edu	37	chr9	123253597	123253597	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtacctgaagcaacacGtccttctgattggtactttc	10	13	7	11	1	1	2	0	2	1	0	3	2	2	2	2	1	5	3	2	1	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123253597G>A	ENST00000349780.4	-	13	1649	c.1470C>T	c.(1468-1470)gaC>gaT	p.D490D	CDK5RAP2_ENST00000359309.3_Silent_p.D490D|CDK5RAP2_ENST00000360190.4_Silent_p.D490D|CDK5RAP2_ENST00000360822.3_Silent_p.D490D	NM_018249.4	NP_060719.4	Q96SN8	CK5P2_HUMAN	CDK5 regulatory subunit associated protein 2	490					brain development|centrosome organization|chromosome segregation|G2/M transition of mitotic cell cycle|microtubule bundle formation|negative regulation of centriole replication|positive regulation of transcription, DNA-dependent|regulation of neuron differentiation|regulation of spindle checkpoint	cytosol|Golgi apparatus|microtubule|pericentriolar material|perinuclear region of cytoplasm|spindle pole	calmodulin binding|microtubule binding|neuronal Cdc2-like kinase binding|transcription regulatory region DNA binding			breast(6)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(6)|urinary_tract(1)	58						GAAGCAACACGTCCTTCTGAT	0.294													A	123253597	G	A	123253597	2	1	592	1	0	0	0	0	0	0	0	1	3176	1136	40	1		1	CDK5RAP2	9	123253597	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	37711	123253597	17959834	288	49526											
PHF19	26147	broad.mit.edu	37	chr9	123624994	123624996	+	In_Frame_Del	DEL	CTT	CTT	-																															atgcgcaggcggaagatgcaCttcttcttcttgatctcctt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:123624994_123624996delCTT	ENST00000373896.3	-	11	1252_1254	c.1000_1002delAAG	c.(1000-1002)aagdel	p.K334del	PHF19_ENST00000487555.1_5'UTR|PHF19_ENST00000419155.1_In_Frame_Del_p.K125del	NM_015651.1	NP_056466.1	Q5T6S3	PHF19_HUMAN	PHD finger protein 19	334					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(1)|endometrium(3)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GGAAGATGCACTTCTTCTTCTTG	0.606													-	123624996	CTT	-	123624994	7	5	592	1	0	1	0	1	0	0	0	0	11906	564	20	0	760	0	PHF19	9	123624994	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	371397	123624994	17588437	289	49527											
OR5C1	392391	broad.mit.edu	37	chr9	125551233	125551233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaactcagagaacctcaccCgggccgcggttgcccctgct	7	7	11	16	3	2	2	2	1	0	1	2	3	2	2	5	2	4	2	5	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:125551233C>T	ENST00000373680.2	+	1	84	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_001001923.1	NP_001001923.1	Q8NGR4	OR5C1_HUMAN	olfactory receptor, family 5, subfamily C, member 1	8					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(5)|skin(1)	20						GAACCTCACCCGGGCCGCGGT	0.582													T	125551233	C	T	125551233	3	4	592	1	0	0	0	0	1	0	0	0	11229	643	23	1	24	1	OR5C1	9	125551233	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1926239	125551233	15662198	290	49528											
CRB2	286204	broad.mit.edu	37	chr9	126128637	126128637	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggagcttccgctgcctctGttggccaggtgtgtgcgtgc	2	11	16	12	3	1	0	0	0	1	0	2	1	2	1	3	3	4	3	3	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:126128637G>T	ENST00000373631.3	+	4	747	c.746G>T	c.(745-747)tGt>tTt	p.C249F	CRB2_ENST00000359999.3_Missense_Mutation_p.C249F	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	249	EGF-like 5.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						CGCTGCCTCTGTTGGCCAGGT	0.736													T	126128637	G	T	126128637	3	4	592	1	0	0	0	0	1	0	0	0	3880	1377	48	4	760	4	CRB2	9	126128637	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	577404	126128637	15084794	291	49529											
SH2D3C	10044	broad.mit.edu	37	chr9	130511902	130511902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctggtgagtgagtcccGgatgaggaagtcgccgttgc	7	8	17	9	3	0	3	0	3	0	0	2	5	1	5	2	4	1	2	2	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:130511902G>A	ENST00000314830.8	-	5	840	c.727C>T	c.(727-729)Cgg>Tgg	p.R243W	SH2D3C_ENST00000373277.4_Missense_Mutation_p.R86W|SH2D3C_ENST00000429553.1_5'UTR|SH2D3C_ENST00000471939.1_Intron|SH2D3C_ENST00000373276.3_Missense_Mutation_p.R175W|SH2D3C_ENST00000373274.3_Missense_Mutation_p.R83W|SH2D3C_ENST00000420366.1_Missense_Mutation_p.R85W	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	243	SH2.				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AGTGAGTCCCGGATGAGGAAG	0.612													A	130511902	G	A	130511902	3	1	592	1	0	0	0	0	1	0	0	0	14327	1115	39	1	1887	1	SH2D3C	9	130511902	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4383265	130511902	10701529	292	49530											
TRUB2	26995	broad.mit.edu	37	chr9	131072049	131072049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagcgtgaagaagccgtcgCgcgtgcgccgcacttgggtg	6	7	16	12	7	0	2	0	1	0	1	1	2	0	2	2	1	3	1	2	1	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131072049C>T	ENST00000372890.4	-	8	1109	c.776G>A	c.(775-777)cGc>cAc	p.R259H	TRUB2_ENST00000546104.1_Missense_Mutation_p.R203H|TRUB2_ENST00000460320.1_5'UTR	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	259					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						GAAGCCGTCGCGCGTGCGCCG	0.582													T	131072049	C	T	131072049	3	4	592	1	0	0	0	0	1	0	0	0	16704	768	27	1	223	1	TRUB2	9	131072049	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	560147	131072049	10141382	293	49531											
SPTAN1	6709	broad.mit.edu	37	chr9	131388869	131388869	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctggccgagctggaccGccagatcaagagcttccgcg	8	5	13	15	4	1	2	1	0	0	2	2	4	2	3	5	2	3	3	5	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:131388869G>A	ENST00000372739.3	+	49	6589	c.6479G>A	c.(6478-6480)cGc>cAc	p.R2160H	SPTAN1_ENST00000372731.4_Missense_Mutation_p.R2155H|SPTAN1_ENST00000358161.5_Missense_Mutation_p.R2160H	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	2155					actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton			NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GAGCTGGACCGCCAGATCAAG	0.582													A	131388869	G	A	131388869	3	1	592	1	0	0	0	0	1	0	0	0	15213	1087	38	1	6669	1	SPTAN1	9	131388869	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	316820	131388869	9824562	294	49532											
USP20	10868	broad.mit.edu	37	chr9	132631191	132631191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctcgcccctgcagccccGtccaccaccacgagggccat	6	5	8	22	3	1	0	0	0	1	0	3	1	2	0	9	1	2	1	9	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:132631191G>A	ENST00000315480.4	+	12	1344	c.1186G>A	c.(1186-1188)Gtc>Atc	p.V396I	USP20_ENST00000358355.1_Missense_Mutation_p.V396I|USP20_ENST00000372429.3_Missense_Mutation_p.V396I			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	396					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CTGCAGCCCCGTCCACCACCA	0.672													A	132631191	G	A	132631191	3	1	592	1	0	0	0	0	1	0	0	0	17154	1145	40	1	1224	1	USP20	9	132631191	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1242322	132631191	8582240	295	49533											
FIBCD1	84929	broad.mit.edu	37	chr9	133780652	133780652	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaatagtcagccacggtgagCgggtacccgtcttcctcagg	8	8	13	12	3	3	1	2	1	1	0	4	2	4	1	3	3	3	1	3	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:133780652C>T	ENST00000372338.4	-	6	1337	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	FIBCD1_ENST00000448616.1_Silent_p.P365P|FIBCD1_ENST00000253018.4_Intron|FIBCD1_ENST00000372337.2_Silent_p.P207P	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	365	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CCACGGTGAGCGGGTACCCGT	0.657													T	133780652	C	T	133780652	2	4	592	1	0	0	0	0	0	0	0	1	5933	755	27	1		1	FIBCD1	9	133780652	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1149461	133780652	7432779	296	49534											
BRD3	8019	broad.mit.edu	37	chr9	136910513	136910513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcagcagcaaagccctgtgCgtctgggtactctcggccat	8	9	11	13	2	3	0	1	0	2	0	4	0	3	0	2	2	5	3	2	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:136910513C>T	ENST00000303407.7	-	7	1302	c.1117G>A	c.(1117-1119)Gca>Aca	p.A373T	BRD3_ENST00000357885.2_Missense_Mutation_p.A373T|BRD3_ENST00000371834.2_Missense_Mutation_p.A373T	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	373	Bromo 2.					nucleus	protein binding	p.A373T(2)	BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		AAGCCCTGTGCGTCTGGGTAC	0.592			T	C15orf55	lethal midline carcinoma of young people								T	136910513	C	T	136910513	3	4	592	1	0	0	0	0	1	0	0	0	1512	768	27	1	1087	1	BRD3	9	136910513	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3129861	136910513	4302918	297	49535											
NOTCH1	4851	broad.mit.edu	37	chr9	139401406	139401406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggattgcagtcgtccacGttgatctcacagtgcacacc	8	9	12	12	2	1	1	1	1	1	0	4	2	2	2	2	2	2	3	2	2	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139401406G>A	ENST00000277541.6	-	23	3738	c.3663C>T	c.(3661-3663)aaC>aaT	p.N1221N		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1221	EGF-like 32; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGTCGTCCACGTTGATCTCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139401406	G	A	139401406	2	1	592	1	0	0	0	0	0	0	0	1	10623	1136	40	1		1	NOTCH1	9	139401406	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2490893	139401406	1812025	298	49536											
CLIC3	9022	broad.mit.edu	37	chr9	139889178	139889178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggccgccaggatctcggcGctgtgcggacacgtgtattt	6	10	14	11	5	1	0	0	0	1	0	2	2	1	2	2	4	1	2	2	4	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:139889178G>A	ENST00000494426.1	-	6	925	c.666C>T	c.(664-666)agC>agT	p.S222S	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	222	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGATCTCGGCGCTGTGCGGAC	0.677													A	139889178	G	A	139889178	2	1	592	1	0	0	0	0	0	0	0	1	3558	1078	38	1		1	CLIC3	9	139889178	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	487772	139889178	1324253	299	49537											
EHMT1	79813	broad.mit.edu	37	chr9	140706066	140706066	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaccgctacgactgtgtcGtgtgagtgcagtgcttcccc	7	10	12	12	3	0	2	0	1	0	1	2	3	1	2	3	0	4	3	3	0	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr9:140706066G>A	ENST00000460843.1	+	19	2893	c.2866G>A	c.(2866-2868)Gtc>Atc	p.V956I		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	956					DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CGACTGTGTCGTGTGAGTGCA	0.642													A	140706066	G	A	140706066	5	1	592	1	0	0	0	0	0	0	1	0	5022	1159	40	1	2989	1	EHMT1	9	140706066	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	816888	140706066	507365	300	49538											
TAF3	83860	broad.mit.edu	37	chr10	8007427	8007427	+	Frame_Shift_Del	DEL	C	C	-																															ataagatgaaagccccagcaCccccactggtgttgccccca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:8007427delC	ENST00000344293.5	+	3	2160	c.1954delC	c.(1954-1956)cccfs	p.P653fs		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	653	Lys-rich.				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						AGCCCCAGCACCCCCACTGGT	0.488													-	8007427	C	-	8007427	7	5	592	1	0	1	0	1	0	0	0	0	15622	507	18	0	1964	0	TAF3	10	8007427	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08		8007427	127527320	301	49539											
DHTKD1	55526	broad.mit.edu	37	chr10	12142226	12142226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctagactgggccaccgCggaagctcttgccttgggtt	7	9	13	12	2	1	1	0	0	1	1	1	2	1	2	3	3	3	3	3	3	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:12142226C>T	ENST00000263035.4	+	9	1783	c.1721C>T	c.(1720-1722)gCg>gTg	p.A574V		NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	574					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			TGGGCCACCGCGGAAGCTCTT	0.423													T	12142226	C	T	12142226	3	4	592	1	0	0	0	0	1	0	0	0	4539	768	27	1	1755	1	DHTKD1	10	12142226	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4134799	12142226	123392521	302	49540											
MKX	283078	broad.mit.edu	37	chr10	28023587	28023587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtatttggggggtgccacGtagtcctcactggcccgtga	5	12	14	10	2	1	1	1	1	0	0	2	1	2	1	3	4	1	2	3	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:28023587G>A	ENST00000375790.5	-	5	1068	c.636C>T	c.(634-636)taC>taT	p.Y212Y	MKX_ENST00000419761.1_Silent_p.Y212Y			Q8IYA7	MKX_HUMAN	mohawk homeobox	212					muscle organ development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)|skin(2)	16						GGGGTGCCACGTAGTCCTCAC	0.488													A	28023587	G	A	28023587	2	1	592	1	0	0	0	0	0	0	0	1	9685	1140	40	1		1	MKX	10	28023587	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15881361	28023587	107511160	303	49541											
SVIL	6840	broad.mit.edu	37	chr10	29760116	29760116	+	Frame_Shift_Del	DEL	C	C	-																															ctccccgagtgcaccaccatCcccccctggaaacactgcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29760116delC	ENST00000375398.2	-	33	6035	c.5586delG	c.(5584-5586)gggfs	p.G1862fs	PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Frame_Shift_Del_p.G1862fs|SVIL_ENST00000375400.3_Frame_Shift_Del_p.G1436fs|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000535393.1_Frame_Shift_Del_p.G776fs			O95425	SVIL_HUMAN	supervillin	1862					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCACCACCATCCCCCCCTGGA	0.527													-	29760116	C	-	29760116	7	5	592	1	0	1	0	1	0	0	0	0	15517	842	30	0	1090	0	SVIL	10	29760116	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1736529	29760116	105774631	304	49542											
SVIL	6840	broad.mit.edu	37	chr10	29822002	29822004	+	In_Frame_Del	DEL	CTT	CTT	-																															ttcttctccttctccttcccCttcttcttcttctgcttttg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:29822002_29822004delCTT	ENST00000375398.2	-	10	1741_1743	c.1292_1294delAAG	c.(1291-1296)gaaggg>ggg	p.E431del	SVIL_ENST00000355867.4_In_Frame_Del_p.E431del|SVIL_ENST00000375400.3_Intron			O95425	SVIL_HUMAN	supervillin	431					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				tctccttccccttcttcttcttc	0.498													-	29822004	CTT	-	29822002	7	5	592	1	0	1	0	1	0	0	0	0	15517	681	24	0	5474	0	SVIL	10	29822002	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	61886	29822002	105712745	305	49543											
ARHGAP22	58504	broad.mit.edu	37	chr10	49687793	49687793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttggccggcaccttctcccGctccccggcaccacctgcaa	5	7	9	20	3	1	0	0	0	1	0	3	0	2	0	7	3	1	5	7	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:49687793G>A	ENST00000249601.4	-	4	633	c.337C>T	c.(337-339)Cgg>Tgg	p.R113W	ARHGAP22_ENST00000374170.1_Missense_Mutation_p.R23W|ARHGAP22_ENST00000417912.2_Missense_Mutation_p.R113W|ARHGAP22_ENST00000417247.2_Missense_Mutation_p.R23W|ARHGAP22_ENST00000374172.1_5'UTR|ARHGAP22_ENST00000435790.2_Missense_Mutation_p.R119W	NM_001256024.1|NM_021226.3	NP_001242953.1|NP_067049.2	Q7Z5H3	RHG22_HUMAN	Rho GTPase activating protein 22	113	PH.				angiogenesis|cell differentiation|regulation of small GTPase mediated signal transduction|regulation of transcription, DNA-dependent|small GTPase mediated signal transduction|transcription, DNA-dependent	cytosol|nucleus	GTPase activator activity			endometrium(3)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						ACCTTCTCCCGCTCCCCGGCA	0.672													A	49687793	G	A	49687793	3	1	592	1	0	0	0	0	1	0	0	0	875	1086	38	1	1787	1	ARHGAP22	10	49687793	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19865791	49687793	85846954	306	49544											
STOX1	219736	broad.mit.edu	37	chr10	70645798	70645798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgagaatgacgacttacGtcaaatgctgcctggccaca	11	10	9	11	2	2	2	1	2	1	1	2	4	2	2	2	1	3	1	2	1	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:70645798G>A	ENST00000298596.6	+	3	2329	c.2246G>A	c.(2245-2247)cGt>cAt	p.R749H	STOX1_ENST00000421961.2_Missense_Mutation_p.R639H|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000399169.4_Missense_Mutation_p.R749H|STOX1_ENST00000399162.2_Intron	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	749						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						GACGACTTACGTCAAATGCTG	0.438													A	70645798	G	A	70645798	3	1	592	1	0	0	0	0	1	0	0	0	15415	1145	40	1	2256	1	STOX1	10	70645798	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20958005	70645798	64888949	307	49545											
TSPAN15	23555	broad.mit.edu	37	chr10	71258152	71258152	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgctgcatcaggaacacGgtagacactgctcctgtggg	9	8	12	12	1	1	1	1	0	0	1	2	2	2	2	2	3	4	4	2	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:71258152G>A	ENST00000373290.2	+	5	692	c.570G>A	c.(568-570)acG>acA	p.T190T	TSPAN15_ENST00000459981.1_3'UTR	NM_012339.3	NP_036471.1	O95858	TSN15_HUMAN	tetraspanin 15	190						integral to plasma membrane|membrane fraction				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)	9						TCAGGAACACGGTAGACACTG	0.587													A	71258152	G	A	71258152	5	1	592	1	0	0	0	0	0	0	1	0	16740	1130	39	1	588	1	TSPAN15	10	71258152	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	612354	71258152	64276595	308	49546											
CDH23	64072	broad.mit.edu	37	chr10	73461953	73461953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgatgcgcaaaatcgtcGtctctgttactgactgtatg	9	13	10	9	3	1	2	0	2	1	0	4	2	1	2	0	0	3	4	0	0	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:73461953G>A	ENST00000224721.6	+	22	2592	c.2587G>A	c.(2587-2589)Gtc>Atc	p.V863I	CDH23_ENST00000299366.7_Missense_Mutation_p.V903I	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	858	Cadherin 8.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CAAAATCGTCGTCTCTGTTAC	0.657													A	73461953	G	A	73461953	3	1	592	1	0	0	0	0	1	0	0	0	3138	1145	40	1	2885	1	CDH23	10	73461953	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2203801	73461953	62072794	309	49547											
ZMIZ1	57178	broad.mit.edu	37	chr10	80968196	80968196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cttcgagcagagcctgatggGctgtttgacggtgagtctgc	6	11	15	9	2	1	4	0	3	1	1	2	5	1	4	1	2	3	3	1	2	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:80968196G>A	ENST00000334512.5	+	6	736	c.164G>A	c.(163-165)gGc>gAc	p.G55D		NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	55					transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			AGCCTGATGGGCTGTTTGACG	0.607													A	80968196	G	A	80968196	3	1	592	1	0	0	0	0	1	0	0	0	17797	1203	42	2	170	2	ZMIZ1	10	80968196	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7506243	80968196	54566551	310	49548											
MYOF	26509	broad.mit.edu	37	chr10	95095762	95095762	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtatctgagaagtctgtcagGccctcaaattctgctacatt	10	13	8	10	0	5	1	2	1	3	1	5	2	5	1	1	1	2	2	1	1	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:95095762G>A	ENST00000371501.4	-	41	4601	c.4479C>T	c.(4477-4479)ggC>ggT	p.G1493G	MYOF_ENST00000358334.5_Silent_p.G1480G|MYOF_ENST00000371502.4_Silent_p.G1512G|MYOF_ENST00000359263.4_Silent_p.G1493G			Q9NZM1	MYOF_HUMAN	myoferlin	1493					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						AGTCTGTCAGGCCCTCAAATT	0.383													A	95095762	G	A	95095762	2	1	592	1	0	0	0	0	0	0	0	1	10165	1190	42	2		2	MYOF	10	95095762	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14127566	95095762	40438985	311	49549											
CYP2C18	1562	broad.mit.edu	37	chr10	96480238	96480238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggggctggaacagagacaaCgagcaccactctgagatatg	13	6	13	9	1	1	2	0	1	1	2	1	6	1	3	1	3	3	2	1	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:96480238C>T	ENST00000285979.6	+	6	1104	c.905C>T	c.(904-906)aCg>aTg	p.T302M	CYP2C18_ENST00000339022.5_Missense_Mutation_p.T243M|CYP2C19_ENST00000464755.1_3'UTR	NM_000772.2	NP_000763.1			cytochrome P450, family 2, subfamily C, polypeptide 18											NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)		ACAGAGACAACGAGCACCACT	0.423													T	96480238	C	T	96480238	3	4	592	1	0	0	0	0	1	0	0	0	4198	536	19	1	927	1	CYP2C18	10	96480238	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1384476	96480238	39054509	312	49550											
DNTT	1791	broad.mit.edu	37	chr10	98064310	98064310	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaagagaccccggcagaCgggtgccttgatggcctcct	9	6	14	12	2	0	4	0	1	0	3	1	6	1	4	5	3	1	1	5	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:98064310C>T	ENST00000419175.1	+	1	226	c.56C>T	c.(55-57)aCg>aTg	p.T19M	RP11-35J23.1_ENST00000454484.2_RNA|DNTT_ENST00000371174.2_Missense_Mutation_p.T19M	NM_001017520.1|NM_004088.3	NP_001017520.1|NP_004079.3	P04053	TDT_HUMAN	DNA nucleotidylexotransferase	19					DNA modification	nucleus	DNA binding|DNA nucleotidylexotransferase activity|DNA-directed DNA polymerase activity|metal ion binding	p.T19M(1)		NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Colorectal(252;0.0815)|all_hematologic(284;0.224)		Epithelial(162;7.97e-08)|all cancers(201;1.89e-06)		CCCCGGCAGACGGGTGCCTTG	0.567													T	98064310	C	T	98064310	3	4	592	1	0	0	0	0	1	0	0	0	4719	536	19	1	58	1	DNTT	10	98064310	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1584072	98064310	37470437	313	49551											
CRTAC1	55118	broad.mit.edu	37	chr10	99696063	99696063	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagctgcgctcatcgaccgcGatgttcaccagccgcttctg	6	9	11	15	5	3	0	2	0	1	0	4	3	3	0	3	0	3	4	3	0	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:99696063G>A	ENST00000370597.3	-	3	640	c.285C>T	c.(283-285)atC>atT	p.I95I	CRTAC1_ENST00000370591.2_Silent_p.I95I|CRTAC1_ENST00000298819.4_Silent_p.I95I	NM_018058.6	NP_060528.3	Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	95						proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CATCGACCGCGATGTTCACCA	0.667													A	99696063	G	A	99696063	2	1	592	1	0	0	0	0	0	0	0	1	3927	1048	37	1		1	CRTAC1	10	99696063	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1631753	99696063	35838684	314	49552											
GBF1	8729	broad.mit.edu	37	chr10	104141973	104141973	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccactgcaggtgggCgtgccacctatgactctgcc	5	8	11	17	1	1	1	0	1	1	0	2	1	2	1	6	2	3	1	6	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:104141973C>T	ENST00000369983.3	+	40	5720	c.5460C>T	c.(5458-5460)ggC>ggT	p.G1820G		NM_001199378.1|NM_001199379.1|NM_004193.2	NP_001186307.1|NP_001186308.1|NP_004184.1	Q92538	GBF1_HUMAN	golgi brefeldin A resistant guanine nucleotide exchange factor 1	1820	Pro-rich.				COPI coating of Golgi vesicle|post-Golgi vesicle-mediated transport|regulation of ARF protein signal transduction|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane	ARF guanyl-nucleotide exchange factor activity|protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(14)|kidney(8)|large_intestine(15)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	71		Colorectal(252;0.0236)		Epithelial(162;5.16e-08)|all cancers(201;1.19e-06)		TGCAGGTGGGCGTGCCACCTA	0.682													T	104141973	C	T	104141973	2	4	592	1	0	0	0	0	0	0	0	1	6325	755	27	1		1	GBF1	10	104141973	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4445910	104141973	31392774	315	49553											
PDCD11	22984	broad.mit.edu	37	chr10	105184818	105184818	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcctccttggtagagacGggccacctggcagctttctc	6	11	11	13	1	1	1	0	0	1	1	3	2	2	1	4	3	2	3	4	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105184818G>A	ENST00000369797.3	+	20	2935	c.2841G>A	c.(2839-2841)acG>acA	p.T947T	PDCD11_ENST00000490787.1_3'UTR	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	947					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGGTAGAGACGGGCCACCTGG	0.547													A	105184818	G	A	105184818	2	1	592	1	0	0	0	0	0	0	0	1	11693	1103	39	1		1	PDCD11	10	105184818	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1042845	105184818	30349929	316	49554											
CALHM2	51063	broad.mit.edu	37	chr10	105209166	105209166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcatacctgagcctgCggctgacctcctcccggaag	7	7	12	15	2	1	2	1	2	0	0	3	4	3	4	5	3	3	1	5	3	2	1	rs139579411		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105209166C>T	ENST00000393235.1	-	3	1730	c.533G>A	c.(532-534)cGc>cAc	p.R178H	CALHM2_ENST00000369788.3_Missense_Mutation_p.R178H|CALHM2_ENST00000260743.5_Missense_Mutation_p.R178H			Q9HA72	CAHM2_HUMAN	calcium homeostasis modulator 2	178						integral to membrane				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)|skin(1)	11						CCTGAGCCTGCGGCTGACCTC	0.592													T	105209166	C	T	105209166	3	4	592	1	0	0	0	0	1	0	0	0	2609	768	27	1	446	1	CALHM2	10	105209166	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24348	105209166	30325581	317	49555											
SLK	9748	broad.mit.edu	37	chr10	105727509	105727511	+	In_Frame_Del	DEL	CTT	CTT	-																															gtgttgggaggaaaaatgtcCttcttcaatttccgtaagat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:105727509_105727511delCTT	ENST00000369755.3	+	1	551_553	c.6_8delCTT	c.(4-9)tccttc>tcc	p.F4del	SLK_ENST00000335753.4_In_Frame_Del_p.F4del	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	4					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GAAAAATGTCCTTCTTCAATTTC	0.483													-	105727511	CTT	-	105727509	7	5	592	1	0	1	0	1	0	0	0	0	14842	668	24	0	8	0	SLK	10	105727509	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	518343	105727509	29807238	318	49556											
EIF3A	8661	broad.mit.edu	37	chr10	120796752	120796752	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcatccctatccctatcGtcccggcgacttgagtctct	5	12	8	16	4	2	1	1	1	1	0	7	2	5	1	3	2	0	0	3	2	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:120796752G>A	ENST00000369144.3	-	21	3925	c.3798C>T	c.(3796-3798)gaC>gaT	p.D1266D	EIF3A_ENST00000541549.1_Silent_p.D1232D	NM_003750.2	NP_003741.1	Q14152	EIF3A_HUMAN	eukaryotic translation initiation factor 3, subunit A	1266	Asp-rich.				formation of translation initiation complex	cytosol|eukaryotic translation initiation factor 3 complex	protein binding|structural molecule activity|translation initiation factor activity			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		TATCCCTATCGTCCCGGCGAC	0.547													A	120796752	G	A	120796752	2	1	592	1	0	0	0	0	0	0	0	1	5051	1136	40	1		1	EIF3A	10	120796752	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15069243	120796752	14737995	319	49557											
GPR26	2849	broad.mit.edu	37	chr10	125426287	125426287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggccaagatgcgcctccgcGacgcggcgctcatggtggcc	5	5	16	15	6	1	1	1	0	0	1	2	2	2	1	4	4	1	1	4	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426287G>A	ENST00000284674.1	+	1	417	c.364G>A	c.(364-366)Gac>Aac	p.D122N		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	122					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCGCCTCCGCGACGCGGCGCT	0.701													A	125426287	G	A	125426287	3	1	592	1	0	0	0	0	1	0	0	0	6738	1058	37	1	366	1	GPR26	10	125426287	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4629535	125426287	10108460	320	49558											
GPR26	2849	broad.mit.edu	37	chr10	125426409	125426409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcacgctgtgcagccggcgGccagacgagcgcctgcgctt	5	6	15	15	6	0	1	0	0	0	1	0	2	0	1	3	2	5	4	3	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125426409G>A	ENST00000284674.1	+	1	539	c.486G>A	c.(484-486)cgG>cgA	p.R162R		NM_153442.3	NP_703143.1	Q8NDV2	GPR26_HUMAN	G protein-coupled receptor 26	162					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	20		Colorectal(57;0.178)|Glioma(114;0.222)|all_neural(114;0.226)				GCAGCCGGCGGCCAGACGAGC	0.682													A	125426409	G	A	125426409	2	1	592	1	0	0	0	0	0	0	0	1	6738	1190	42	2		2	GPR26	10	125426409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122	125426409	10108338	321	49559											
CHST15	51363	broad.mit.edu	37	chr10	125804256	125804256	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaagtgcttcccgtgcgcGtgcgccaggtggccccagaa	6	6	15	14	5	0	1	0	0	0	1	1	2	1	2	4	3	3	1	4	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:125804256G>A	ENST00000346248.5	-	3	1368	c.726C>T	c.(724-726)caC>caT	p.H242H	CHST15_ENST00000421115.1_Silent_p.H242H|CHST15_ENST00000435907.1_Silent_p.H242H	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	242					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						TCCCGTGCGCGTGCGCCAGGT	0.662													A	125804256	G	A	125804256	2	1	592	1	0	0	0	0	0	0	0	1	3433	1136	40	1		1	CHST15	10	125804256	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	377847	125804256	9730491	322	49560											
PWWP2B	170394	broad.mit.edu	37	chr10	134218375	134218375	+	Frame_Shift_Del	DEL	C	C	-																															ccctccctacttcgaaggcgCccccttccctcacccgctgt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:134218375delC	ENST00000305233.5	+	2	430	c.371delC	c.(370-372)gccfs	p.A124fs	PWWP2B_ENST00000368609.4_Frame_Shift_Del_p.A124fs	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	124	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		TTCGAAGGCGCCCCCTTCCCT	0.751													-	134218375	C	-	134218375	7	5	592	1	0	1	0	1	0	0	0	0	12934	739	26	0	377	0	PWWP2B	10	134218375	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8414119	134218375	1316372	323	49561											
TUBGCP2	10844	broad.mit.edu	37	chr10	135101799	135101799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgccctggtccatgaggaagTagcgcttgatggacctgcgc	7	8	14	12	3	0	2	0	2	0	0	1	4	1	4	3	3	2	2	3	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135101799T>C	ENST00000368563.2	-	11	1912	c.1556A>G	c.(1555-1557)tAc>tGc	p.Y519C	TUBGCP2_ENST00000543663.1_Missense_Mutation_p.Y547C|TUBGCP2_ENST00000252936.3_Missense_Mutation_p.Y519C|TUBGCP2_ENST00000368562.1_Missense_Mutation_p.Y112C|TUBGCP2_ENST00000417178.2_Missense_Mutation_p.Y389C	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	519					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		CATGAGGAAGTAGCGCTTGAT	0.682													C	135101799	T	C	135101799	3	2	592	1	0	0	0	0	1	0	0	0	16868	1638	57	3	1184	3	TUBGCP2	10	135101799	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	883424	135101799	432948	324	49562											
TUBGCP2	10844	broad.mit.edu	37	chr10	135103416	135103418	+	In_Frame_Del	DEL	GTT	GTT	-																															cgctggtcccagtacttgtcGttgtaatcctcctggatcct																								rs141945979	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr10:135103416_135103418delGTT	ENST00000368563.2	-	9	1626_1628	c.1270_1272delAAC	c.(1270-1272)aacdel	p.N424del	TUBGCP2_ENST00000417178.2_In_Frame_Del_p.N294del|TUBGCP2_ENST00000368562.1_In_Frame_Del_p.N17del|TUBGCP2_ENST00000252936.3_In_Frame_Del_p.N424del|TUBGCP2_ENST00000543663.1_In_Frame_Del_p.N452del	NM_001256617.1|NM_006659.3	NP_001243546.1|NP_006650.1	Q9BSJ2	GCP2_HUMAN	tubulin, gamma complex associated protein 2	424					G2/M transition of mitotic cell cycle|microtubule nucleation|protein complex assembly	centrosome|cytoplasmic microtubule|cytosol|spindle pole	protein binding			breast(2)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	35		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.87e-06)|all cancers(32;8.98e-06)|Epithelial(32;1.15e-05)		AGTACTTGTCGTTGTAATCCTCC	0.581													-	135103418	GTT	-	135103416	7	5	592	1	0	1	0	1	0	0	0	0	16868	1136	40	0	1476	0	TUBGCP2	10	135103416	In_Frame_Del	DEL	GTT	TCGA-HT-8564-01A-11D-2395-08	1617	135103416	431331	325	49563											
IFITM1	8519	broad.mit.edu	37	chr11	314210	314210	+	Frame_Shift_Del	DEL	C	C	-																															aggtggctgtgctggggccaCcccccagcaccatccttcca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:314210delC	ENST00000408968.3	+	1	358	c.40delC	c.(40-42)cccfs	p.P15fs	IFITM1_ENST00000328221.5_Frame_Shift_Del_p.P15fs|IFITM1_ENST00000528780.1_Frame_Shift_Del_p.P15fs	NM_003641.3	NP_003632	P13164	IFM1_HUMAN	interferon induced transmembrane protein 1	15					negative regulation of cell proliferation|regulation of immune response|response to virus|type I interferon-mediated signaling pathway	integral to membrane|plasma membrane	protein binding|receptor signaling protein activity			large_intestine(1)|lung(3)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;8.85e-28)|Epithelial(43;5.52e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GCTGGGGCCACCCCCCAGCAC	0.562													-	314210	C	-	314210	7	5	592	1	0	1	0	1	0	0	0	0	7584	507	18	0	42	0	IFITM1	11	314210	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08		314210	134692306	326	49564											
DEAF1	10522	broad.mit.edu	37	chr11	654033	654033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctcatagcctcccggcCgcagttaacgcaggactgct	7	8	10	16	4	1	0	1	0	0	0	3	1	2	1	3	2	3	5	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:654033C>T	ENST00000382409.3	-	11	2006	c.1522G>A	c.(1522-1524)Ggc>Agc	p.G508S	DEAF1_ENST00000525904.1_5'UTR|DEAF1_ENST00000338675.6_Missense_Mutation_p.G433S	NM_021008.2	NP_066288.2	O75398	DEAF1_HUMAN	DEAF1 transcription factor	508					embryonic skeletal system development|germ cell development|neural tube closure|regulation of mammary gland epithelial cell proliferation|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|extracellular region|nucleus	protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	24		all_cancers(49;1.24e-08)|all_epithelial(84;1.87e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;1.76e-27)|Epithelial(43;8.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.55e-21)|BRCA - Breast invasive adenocarcinoma(625;4.83e-05)|Lung(200;0.0259)|LUSC - Lung squamous cell carcinoma(625;0.075)		GCCTCCCGGCCGCAGTTAACG	0.622													T	654033	C	T	654033	3	4	592	1	0	0	0	0	1	0	0	0	4414	652	23	1	183	1	DEAF1	11	654033	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	339823	654033	134352483	327	49565											
MUC2	4583	broad.mit.edu	37	chr11	1080294	1080294	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccaggcaccgtatatgaCgacatcggggacagtggctg	9	7	14	11	3	0	1	0	1	0	0	2	3	1	2	2	4	0	3	2	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1080294C>T	ENST00000441003.2	+	8	1041	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D	MUC2_ENST00000359061.5_Silent_p.D338D	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	338	TIL.					inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCGTATATGACGACATCGGGG	0.647													T	1080294	C	T	1080294	2	4	592	1	0	0	0	0	0	0	0	1	10051	535	19	1		1	MUC2	11	1080294	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	426261	1080294	133926222	328	49566											
DUSP8	1850	broad.mit.edu	37	chr11	1578531	1578531	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagtgcgctggtcgcCgggggcgtggggggcgcggg	1	6	24	10	6	0	0	0	0	0	0	1	0	0	0	1	7	3	3	1	7	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:1578531C>T	ENST00000397374.3	-	7	1222	c.1095G>A	c.(1093-1095)ccG>ccA	p.P365P	DUSP8_ENST00000331588.4_Silent_p.P365P	NM_004420.2	NP_004411.2	Q13202	DUS8_HUMAN	dual specificity phosphatase 8	365	Pro-rich.|Tyrosine-protein phosphatase.				inactivation of MAPK activity	cytoplasm|nucleus	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			endometrium(1)|lung(2)|prostate(1)|urinary_tract(1)	5		all_epithelial(84;0.000134)|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;0.000621)|Lung(200;0.0687)|LUSC - Lung squamous cell carcinoma(625;0.0825)		CGCTGGTcgccgggggcgtgg	0.731													T	1578531	C	T	1578531	2	4	592	1	0	0	0	0	0	0	0	1	4870	639	23	1		1	DUSP8	11	1578531	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	498237	1578531	133427985	329	49567											
TRPM5	29850	broad.mit.edu	37	chr11	2428525	2428525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctgcaccacctggaacGtgtagctgcaggggcacagc	8	6	13	14	1	0	0	0	0	0	0	0	1	0	1	3	3	6	5	3	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:2428525G>A	ENST00000452833.1	-	20	2956	c.2948C>T	c.(2947-2949)aCg>aTg	p.T983M	AC124057.5_ENST00000433035.1_RNA|TRPM5_ENST00000528453.1_Missense_Mutation_p.T981M|TRPM5_ENST00000533060.1_Missense_Mutation_p.T981M|TRPM5_ENST00000155858.6_Missense_Mutation_p.T981M			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	981						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		CACCTGGAACGTGTAGCTGCA	0.642													A	2428525	G	A	2428525	3	1	592	1	0	0	0	0	1	0	0	0	16690	1145	40	1	575	1	TRPM5	11	2428525	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	849994	2428525	132577991	330	49568											
OR51G1	79324	broad.mit.edu	37	chr11	4944910	4944910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtgcgaaggatgagggcGtatgagagaaagatgagcag	14	5	18	4	3	0	5	0	3	0	2	0	8	0	6	0	3	2	2	0	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:4944910G>A	ENST00000321961.2	-	1	727	c.660C>T	c.(658-660)taC>taT	p.Y220Y	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005237.1	NP_001005237.1	Q8NGK1	O51G1_HUMAN	olfactory receptor, family 51, subfamily G, member 1	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.Y220*(1)		NS(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(4)|soft_tissue(1)	25		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.58e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGATGAGGGCGTATGAGAGAA	0.547													A	4944910	G	A	4944910	2	1	592	1	0	0	0	0	0	0	0	1	11174	1140	40	1		1	OR51G1	11	4944910	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2516385	4944910	130061606	331	49569											
OR51B4	79339	broad.mit.edu	37	chr11	5322671	5322671	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatgtgtgcaagagggcaCgggaaccacaatatgggtag	15	6	14	6	1	0	1	0	0	0	1	0	2	0	2	1	3	2	3	1	3	7	2	rs115916434	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:5322671C>T	ENST00000380224.1	-	1	555	c.506G>A	c.(505-507)cGt>cAt	p.R169H	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAAGAGGGCACGGGAACCACA	0.423													T	5322671	C	T	5322671	3	4	592	1	0	0	0	0	1	0	0	0	11166	536	19	1	429	1	OR51B4	11	5322671	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	377761	5322671	129683845	332	49570											
ST5	6764	broad.mit.edu	37	chr11	8752647	8752647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccggtccttgaggagcacccGggagctggagtggctggggt	5	7	19	10	2	0	1	0	1	0	0	1	4	1	4	3	7	2	3	3	7	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:8752647G>A	ENST00000534127.1	-	6	575	c.190C>T	c.(190-192)Cgg>Tgg	p.R64W	ST5_ENST00000530438.1_Intron|ST5_ENST00000526757.1_Intron|ST5_ENST00000313726.6_Missense_Mutation_p.R64W|ST5_ENST00000357665.1_Missense_Mutation_p.R64W	NM_005418.3	NP_005409.3	P78524	ST5_HUMAN	suppression of tumorigenicity 5	64	Pro-rich.				positive regulation of ERK1 and ERK2 cascade		protein binding			NS(1)|breast(2)|endometrium(5)|kidney(3)|large_intestine(13)|liver(1)|lung(10)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	39				Epithelial(150;2.63e-07)|BRCA - Breast invasive adenocarcinoma(625;0.0352)		AGGAGCACCCGGGAGCTGGAG	0.612													A	8752647	G	A	8752647	3	1	592	1	0	0	0	0	1	0	0	0	15316	1115	39	1	3295	1	ST5	11	8752647	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3429976	8752647	126253869	333	49571											
ZNF143	7702	broad.mit.edu	37	chr11	9522711	9522711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaatatcagaaaagtgcaCgttaggacacacacaggaga	18	6	9	8	1	2	2	2	0	0	2	2	4	2	3	0	2	1	2	0	2	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:9522711C>T	ENST00000396602.2	+	11	1160	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ZNF143_ENST00000396597.3_Silent_p.H316H|ZNF143_ENST00000299606.2_Silent_p.H319H|ZNF143_ENST00000530463.1_Silent_p.H346H|ZNF143_ENST00000396604.1_Silent_p.H346H	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	347					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding			endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		GAAAAGTGCACGTTAGGACAC	0.433													T	9522711	C	T	9522711	2	4	592	1	0	0	0	0	0	0	0	1	17833	535	19	1		1	ZNF143	11	9522711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	770064	9522711	125483805	334	49572											
INSC	387755	broad.mit.edu	37	chr11	15197574	15197574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtctgacctgccatgcccGctccatggtcagcgagtaca	7	8	11	15	3	2	1	1	1	1	0	3	2	3	1	4	1	4	2	4	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:15197574G>A	ENST00000379554.3	+	3	531	c.485G>A	c.(484-486)cGc>cAc	p.R162H	INSC_ENST00000424273.1_Missense_Mutation_p.R115H|INSC_ENST00000528567.1_Missense_Mutation_p.R115H|INSC_ENST00000379556.3_Missense_Mutation_p.R115H|INSC_ENST00000530161.1_Missense_Mutation_p.R115H|INSC_ENST00000525218.1_Missense_Mutation_p.R115H	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	162					cell differentiation|nervous system development	cytoplasm	binding			NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						TGCCATGCCCGCTCCATGGTC	0.622													A	15197574	G	A	15197574	3	1	592	1	0	0	0	0	1	0	0	0	7822	1087	38	1	495	1	INSC	11	15197574	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5674863	15197574	119808942	335	49573											
TSG101	7251	broad.mit.edu	37	chr11	18503252	18503252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatagtgtcttcaatagcGttttcttctgcatacagatt	11	16	7	7	1	4	2	1	0	3	2	4	2	4	2	0	0	3	2	0	0	5	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18503252G>A	ENST00000536719.1	-	9	1142	c.1008C>T	c.(1006-1008)aaC>aaT	p.N336N	TSG101_ENST00000251968.3_Silent_p.N336N|TSG101_ENST00000357193.3_Silent_p.N231N			Q99816	TS101_HUMAN	tumor susceptibility 101	336	SB.				cell division|cellular membrane organization|endosome transport|interspecies interaction between organisms|non-lytic virus budding|protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	early endosome|late endosome membrane|multivesicular body|nucleolus|plasma membrane	calcium-dependent protein binding|DNA binding|transcription corepressor activity|ubiquitin binding|ubiquitin protein ligase binding			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	22						CTTCAATAGCGTTTTCTTCTG	0.388													A	18503252	G	A	18503252	2	1	592	1	0	0	0	0	0	0	0	1	16717	1136	40	1		1	TSG101	11	18503252	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3305678	18503252	116503264	336	49574											
TMEM86A	144110	broad.mit.edu	37	chr11	18723160	18723160	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccacatgttctacgcctcGgcctttggcatgcagccact	7	10	8	16	2	1	0	0	0	1	0	2	0	1	0	4	2	3	3	4	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:18723160G>A	ENST00000280734.2	+	3	423	c.327G>A	c.(325-327)tcG>tcA	p.S109S	TMEM86A_ENST00000527002.1_3'UTR	NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	109						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						TCTACGCCTCGGCCTTTGGCA	0.587													A	18723160	G	A	18723160	2	1	592	1	0	0	0	0	0	0	0	1	16308	1103	39	1		1	TMEM86A	11	18723160	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	219908	18723160	116283356	337	49575											
ELP4	26610	broad.mit.edu	37	chr11	31805009	31805009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatggatctggcagaatcCgccaagcggctgggcccagg	11	5	14	11	2	1	1	0	0	1	1	2	2	2	2	3	5	1	2	3	5	4	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:31805009C>T	ENST00000379163.5	+	11	1369	c.1354C>T	c.(1354-1356)Cgc>Tgc	p.R452C	ELP4_ENST00000395934.2_3'UTR|ELP4_ENST00000350638.5_Silent_p.S404S			Q96EB1	ELP4_HUMAN	elongator acetyltransferase complex subunit 4	349					histone acetylation|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|DNA-directed RNA polymerase II, holoenzyme|Elongator holoenzyme complex|transcription elongation factor complex	phosphorylase kinase regulator activity|protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(3)	20	Lung SC(675;0.225)					TGGCAGAATCCGCCAAGCGGC	0.522													T	31805009	C	T	31805009	3	4	592	1	0	0	0	0	1	0	0	0	5123	639	23	1	1250	1	ELP4	11	31805009	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	13081849	31805009	103201507	338	49576											
QSER1	79832	broad.mit.edu	37	chr11	32997894	32997895	+	Frame_Shift_Ins	INS	-	-	A																															tttagatttcttcggtgcagINSaaaaaaaatgaagatttagg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:32997894_32997895insA	ENST00000399302.2	+	13	5417_5418	c.5082_5083insA	c.(5083-5085)aaafs	p.K1695fs	QSER1_ENST00000527788.1_Frame_Shift_Ins_p.K1456fs	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	1695										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					CTTCGGTGCAGAAAAAAAATGA	0.292													A	32997895	-	A	32997894	7	5	592	1	0	1	1	0	0	0	0	0	12970	933	33	0	5124	0	QSER1	11	32997894	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	1192885	32997894	102008622	339	49577											
CSTF3	1479	broad.mit.edu	37	chr11	33120307	33120307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccttttcatacttcatgcGactctaaggtggtacagaag	12	12	8	9	1	3	1	2	0	1	1	3	2	3	1	1	2	4	1	1	2	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33120307G>A	ENST00000323959.4	-	13	1196	c.1057C>T	c.(1057-1059)Cgc>Tgc	p.R353C	TCP11L1_ENST00000324357.9_Intron	NM_001326.2	NP_001317.1	Q12996	CSTF3_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 3, 77kDa	353					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(1)|stomach(1)	19						TACTTCATGCGACTCTAAGGT	0.393													A	33120307	G	A	33120307	3	1	592	1	0	0	0	0	1	0	0	0	4019	1058	37	1	1132	1	CSTF3	11	33120307	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	122413	33120307	101886209	340	49578											
HIPK3	10114	broad.mit.edu	37	chr11	33308890	33308891	+	Frame_Shift_Ins	INS	-	-	A																															aacaagtggccactgcactgINSaaaaaattgaaaagtcttgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:33308890_33308891insA	ENST00000303296.4	+	2	1235_1236	c.930_931insA	c.(931-933)aaafs	p.K311fs	HIPK3_ENST00000379016.3_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000456517.1_Frame_Shift_Ins_p.K311fs|HIPK3_ENST00000525975.1_Frame_Shift_Ins_p.K311fs	NM_005734.3	NP_005725.3	Q9H422	HIPK3_HUMAN	homeodomain interacting protein kinase 3	311	Protein kinase.				anti-apoptosis|apoptosis|negative regulation of JUN kinase activity|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm	ATP binding|protein serine/threonine kinase activity			endometrium(3)|kidney(3)|large_intestine(9)|liver(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	39						CCACTGCACTGAAAAAATTGAA	0.391													A	33308891	-	A	33308890	7	5	592	1	0	1	1	0	0	0	0	0	7173	1277	45	0	932	0	HIPK3	11	33308890	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	188583	33308890	101697626	341	49579											
EXT2	2132	broad.mit.edu	37	chr11	44255740	44255740	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgctcatatgaactgtgaaGatattgccatgaacttcctg	12	13	8	8	0	1	4	1	3	0	1	2	4	2	4	2	0	4	1	2	0	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:44255740G>C	ENST00000395673.3	+	12	2037	c.1981G>C	c.(1981-1983)Gat>Cat	p.D661H	EXT2_ENST00000358681.4_Missense_Mutation_p.D638H|EXT2_ENST00000343631.3_Missense_Mutation_p.D628H|EXT2_ENST00000533608.1_Missense_Mutation_p.D628H	NM_000401.3	NP_000392.3	Q93063	EXT2_HUMAN	exostosin glycosyltransferase 2	628					glycosaminoglycan biosynthetic process|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|ossification|signal transduction	Golgi membrane|integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|heparan sulfate N-acetylglucosaminyltransferase activity|N-acetylglucosaminyl-proteoglycan 4-beta-glucuronosyltransferase activity|protein heterodimerization activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|lung(17)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	32						GAACTGTGAAGATATTGCCAT	0.428			"Mis, N, F, S"			"exostoses, osteosarcoma"			Hereditary Multiple Exostoses				C	44255740	G	C	44255740	3	2	592	1	0	0	0	0	1	0	0	0	5366	942	33	4	2124	4	EXT2	11	44255740	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10946850	44255740	90750776	342	49580											
OR8H1	219469	broad.mit.edu	37	chr11	56058354	56058354	+	Frame_Shift_Del	DEL	A	A	-																															taaatgacaagtgagtaaggAaaaaatacatgggagtgtga																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:56058354delA	ENST00000313022.2	-	1	212	c.185delT	c.(184-186)ttcfs	p.F62fs		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GTGAGTAAGGAAAAAATACAT	0.403													-	56058354	A	-	56058354	7	5	592	1	0	1	0	1	0	0	0	0	11313	246	9	0	752	0	OR8H1	11	56058354	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	11802614	56058354	78948162	343	49581											
TCN1	6947	broad.mit.edu	37	chr11	59623424	59623424	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtaagacctgggctgcagcGtttggattgctgaatgctcc	7	11	14	9	1	0	2	0	1	0	1	1	3	1	3	2	3	4	6	2	3	2	3	rs72550759	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:59623424G>A	ENST00000257264.3	-	6	959	c.855C>T	c.(853-855)aaC>aaT	p.N285N	TCN1_ENST00000532419.1_Intron	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	285					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGGCTGCAGCGTTTGGATTGC	0.413													A	59623424	G	A	59623424	2	1	592	1	0	0	0	0	0	0	0	1	15806	1136	40	1		1	TCN1	11	59623424	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3565070	59623424	75383092	344	49582											
INCENP	3619	broad.mit.edu	37	chr11	61912746	61912746	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtttgctcagatcgaCgagaagactgagaaggtggg	13	7	15	6	2	1	5	1	1	0	5	2	8	1	5	0	2	1	2	0	2	3	1	rs141016037		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:61912746C>T	ENST00000394818.3	+	13	2023	c.1821C>T	c.(1819-1821)gaC>gaT	p.D607D	INCENP_ENST00000278849.4_Silent_p.D603D	NM_001040694.1	NP_001035784.1	Q9NQS7	INCE_HUMAN	inner centromere protein antigens 135/155kDa	607					chromosome segregation|cytokinesis|mitotic prometaphase	centromeric heterochromatin|condensed chromosome kinetochore|cytosol|microtubule|spindle	protein binding			breast(1)|endometrium(1)|kidney(6)|large_intestine(2)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						CTCAGATCGACGAGAAGACTG	0.577													T	61912746	C	T	61912746	2	4	592	1	0	0	0	0	0	0	0	1	7791	535	19	1		1	INCENP	11	61912746	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2289322	61912746	73093770	345	49583											
MTA2	9219	broad.mit.edu	37	chr11	62362913	62362916	+	Frame_Shift_Del	DEL	GAGA	GAGA	-																															gttggcgctggttgtgtaagGagagagactttgagcttcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62362913_62362916delGAGA	ENST00000278823.2	-	14	1692_1695	c.1303_1306delTCTC	c.(1303-1308)tctcctfs	p.SP435fs	MTA2_ENST00000524902.1_Frame_Shift_Del_p.SP262fs|MTA2_ENST00000527204.1_Frame_Shift_Del_p.SP262fs	NM_004739.3	NP_004730.2	O94776	MTA2_HUMAN	metastasis associated 1 family, member 2	435					chromatin assembly or disassembly	NuRD complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	26						GTTGTGTAAGGAGAGAGACTTTGA	0.51													-	62362916	GAGA	-	62362913	7	5	592	1	0	1	0	1	0	0	0	0	9985	1174	41	0	720	0	MTA2	11	62362913	Frame_Shift_Del	DEL	GAGA	TCGA-HT-8564-01A-11D-2395-08	450167	62362913	72643603	346	49584											
GANAB	23193	broad.mit.edu	37	chr11	62397318	62397318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagatgttatgcacatcccGgtgctcccagcccccataat	10	10	7	14	1	0	1	0	0	0	1	2	1	2	1	4	1	3	3	4	1	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:62397318G>A	ENST00000346178.4	-	15	1786	c.1771C>T	c.(1771-1773)Cgg>Tgg	p.R591W	GANAB_ENST00000356638.3_Missense_Mutation_p.R569W|GANAB_ENST00000540933.1_Missense_Mutation_p.R472W|GANAB_ENST00000534779.1_Missense_Mutation_p.R477W	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	569					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TGCACATCCCGGTGCTCCCAG	0.522													A	62397318	G	A	62397318	3	1	592	1	0	0	0	0	1	0	0	0	6287	1115	39	1	1173	1	GANAB	11	62397318	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	34405	62397318	72609198	347	49585											
RASGRP2	10235	broad.mit.edu	37	chr11	64506852	64506852	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgatggtctcagggctaaCgtggctgtgggtctccttga	5	13	14	9	1	2	2	1	2	2	0	4	2	2	2	1	4	1	2	1	4	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64506852C>T	ENST00000377494.1	-	7	1715	c.793G>A	c.(793-795)Gtt>Att	p.V265I	RASGRP2_ENST00000354024.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000394432.3_Missense_Mutation_p.V265I|RASGRP2_ENST00000377497.3_Missense_Mutation_p.V265I			Q7LDG7	GRP2_HUMAN	RAS guanyl releasing protein 2 (calcium and DAG-regulated)	265	Ras-GEF.				platelet activation|Ras protein signal transduction|regulation of cell growth|regulation of small GTPase mediated signal transduction	cell junction|cytosol|ruffle membrane|synapse|synaptosome	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCAGGGCTAACGTGGCTGTGG	0.642													T	64506852	C	T	64506852	3	4	592	1	0	0	0	0	1	0	0	0	13163	536	19	1	1072	1	RASGRP2	11	64506852	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2109534	64506852	70499664	348	49586											
SF1	7536	broad.mit.edu	37	chr11	64532975	64532975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggctcgggccatcgccGccgcggggagggatcctggc	4	6	17	14	5	1	0	1	0	0	0	4	2	2	2	4	6	0	1	4	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:64532975G>A	ENST00000377387.1	-	13	2049	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	SF1_ENST00000377390.3_3'UTR|SF1_ENST00000377394.3_Silent_p.G534G|SF1_ENST00000422298.2_Missense_Mutation_p.A418V|SF1_ENST00000227503.9_Missense_Mutation_p.A533V|SF1_ENST00000334944.5_Silent_p.G601G	NM_001178030.1	NP_001171501.1	Q15637	SF01_HUMAN	splicing factor 1	533					nuclear mRNA 3'-splice site recognition|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ribosome|spliceosomal complex	protein binding|RNA binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|skin(2)	31						GGCCATCGCCGCCGCGGGGAG	0.637													A	64532975	G	A	64532975	3	1	592	1	0	0	0	0	1	0	0	0	14238	1087	38	1	117	1	SF1	11	64532975	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	26123	64532975	70473541	349	49587											
EFEMP2	30008	broad.mit.edu	37	chr11	65635366	65635366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctgcgagtttccagcaCggatctgaaaggcattgtag	9	9	11	12	2	1	1	0	1	1	0	2	3	2	2	3	2	2	4	3	2	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:65635366C>T	ENST00000307998.6	-	10	1366	c.1136G>A	c.(1135-1137)cGt>cAt	p.R379H	EFEMP2_ENST00000528176.1_Missense_Mutation_p.R379H	NM_016938.4	NP_058634.4	O95967	FBLN4_HUMAN	EGF containing fibulin-like extracellular matrix protein 2	379					blood coagulation	basement membrane|membrane	calcium ion binding|extracellular matrix structural constituent|protein binding|transmembrane receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21				READ - Rectum adenocarcinoma(159;0.169)		GTTTCCAGCACGGATCTGAAA	0.552													T	65635366	C	T	65635366	3	4	592	1	0	0	0	0	1	0	0	0	4981	536	19	1	203	1	EFEMP2	11	65635366	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1102391	65635366	69371150	350	49588											
PELI3	246330	broad.mit.edu	37	chr11	66243521	66243521	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagactgcccgctactgggcCcagacaccactgccccacgg	9	4	10	18	2	0	2	0	0	0	2	0	2	0	2	5	2	3	1	5	2	2	1	rs139368303		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66243521C>A	ENST00000349459.6	+	7	1505	c.1221C>A	c.(1219-1221)gcC>gcA	p.A407A	PELI3_ENST00000320740.7_Silent_p.A431A|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	431						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCTACTGGGCCCAGACACCAC	0.672													A	66243521	C	A	66243521	2	1	592	1	0	0	0	0	0	0	0	1	11799	610	22	4		4	PELI3	11	66243521	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608155	66243521	68762995	351	49589											
SPTBN2	6712	broad.mit.edu	37	chr11	66460877	66460877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgccgctccctcaggtccGcgatccggggctcatggccc	3	7	13	18	4	2	0	2	0	0	0	5	1	5	0	5	4	1	3	5	4	0	0	rs150801133	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66460877G>A	ENST00000533211.1	-	24	4965	c.4634C>T	c.(4633-4635)gCg>gTg	p.A1545V	SPTBN2_ENST00000309996.2_Missense_Mutation_p.A1545V|SPTBN2_ENST00000529997.1_Missense_Mutation_p.A1545V			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	1545					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCAGGTCCGCGATCCGGGG	0.627													A	66460877	G	A	66460877	3	1	592	1	0	0	0	0	1	0	0	0	15216	1087	38	1	2598	1	SPTBN2	11	66460877	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	217356	66460877	68545639	352	49590											
RCE1	9986	broad.mit.edu	37	chr11	66612694	66612696	+	In_Frame_Del	DEL	TCT	TCT	-																															ccagagcagcgtggggaacaTcttcttgtctgctggtgagt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:66612694_66612696delTCT	ENST00000309657.3	+	6	721_723	c.677_679delTCT	c.(676-681)atcttc>atc	p.F227del	RCE1_ENST00000525356.1_In_Frame_Del_p.F104del|RCE1_ENST00000524506.1_In_Frame_Del_p.F227del	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	227					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						GTGGGGAACATCTTCTTGTCTGC	0.527													-	66612696	TCT	-	66612694	7	5	592	1	0	1	0	1	0	0	0	0	13264	1435	50	0	699	0	RCE1	11	66612694	In_Frame_Del	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	151817	66612694	68393822	353	49591											
KDM2A	22992	broad.mit.edu	37	chr11	67012792	67012792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgattgtgtcaggagccagaCggagacgagtgcgatgtcga	10	7	16	8	5	1	2	1	0	0	2	2	8	1	3	1	2	2	0	1	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67012792C>T	ENST00000529006.2	+	14	2142	c.1696C>T	c.(1696-1698)Cgg>Tgg	p.R566W	KDM2A_ENST00000530342.1_Missense_Mutation_p.R127W|KDM2A_ENST00000398645.2_Missense_Mutation_p.R566W|KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000308783.5_Missense_Mutation_p.R24W	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	566					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						AGGAGCCAGACGGAGACGAGT	0.552													T	67012792	C	T	67012792	3	4	592	1	0	0	0	0	1	0	0	0	8182	527	19	1	1746	1	KDM2A	11	67012792	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	400098	67012792	67993724	354	49592											
TBX10	347853	broad.mit.edu	37	chr11	67402373	67402373	+	Frame_Shift_Del	DEL	G	G	-																															cccaggatcttcacctggaaGggggggaacatcctcctgcg																								rs144542807		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67402373delG	ENST00000335385.3	-	3	378	c.291delC	c.(289-291)cccfs	p.P97fs		NM_005995.4	NP_005986.2	O75333	TBX10_HUMAN	T-box 10	97					anatomical structure morphogenesis|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|lung(4)|ovary(1)	7						TCACCTGGAAGGGGGGGAACA	0.677													-	67402373	G	-	67402373	7	5	592	1	0	1	0	1	0	0	0	0	15751	987	35	0	890	0	TBX10	11	67402373	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	389581	67402373	67604143	355	49593											
SUV420H1	51111	broad.mit.edu	37	chr11	67925272	67925272	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaagaggaataaaatcGtcttcaaagtcatcatcata	17	9	9	6	1	5	1	4	0	1	1	6	4	5	4	0	3	0	0	0	3	6	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:67925272G>A	ENST00000304363.4	-	11	2894	c.2541C>T	c.(2539-2541)gaC>gaT	p.D847D		NM_017635.3	NP_060105	Q4FZB7	SV421_HUMAN	suppressor of variegation 4-20 homolog 1 (Drosophila)	847					regulation of transcription, DNA-dependent|transcription, DNA-dependent		protein binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(15)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46						GAATAAAATCGTCTTCAAAGT	0.403													A	67925272	G	A	67925272	2	1	592	1	0	0	0	0	0	0	0	1	15510	1136	40	1		1	SUV420H1	11	67925272	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	522899	67925272	67081244	356	49594											
MRGPRD	116512	broad.mit.edu	37	chr11	68748335	68748335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctgttgcctgccatccCgcacaggcaggtgaacatgg	8	8	12	13	1	0	1	0	1	0	0	1	1	1	1	3	3	4	4	3	3	1	1	rs144924033		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:68748335C>T	ENST00000309106.3	-	1	120	c.121G>A	c.(121-123)Ggg>Agg	p.G41R		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CCTGCCATCCCGCACAGGCAG	0.597													T	68748335	C	T	68748335	3	4	592	1	0	0	0	0	1	0	0	0	9839	652	23	1	847	1	MRGPRD	11	68748335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	823063	68748335	66258181	357	49595											
PRCP	5547	broad.mit.edu	37	chr11	82550376	82550376	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggcatttcacctggcccGaataattgtaatatacattc	12	13	6	10	1	2	0	2	0	0	0	3	1	2	0	2	2	1	2	2	2	5	7			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82550376G>A	ENST00000313010.3	-	7	1207	c.1013C>T	c.(1012-1014)tCg>tTg	p.S338L	PRCP_ENST00000535099.1_Missense_Mutation_p.S233L|PRCP_ENST00000525772.1_5'UTR|PRCP_ENST00000393399.2_Missense_Mutation_p.S359L	NM_005040.2	NP_005031.1	P42785	PCP_HUMAN	prolylcarboxypeptidase (angiotensinase C)	338					blood coagulation, intrinsic pathway|proteolysis	lysosome|plasma membrane	protein binding|serine-type carboxypeptidase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	17						CACCTGGCCCGAATAATTGTA	0.403													A	82550376	G	A	82550376	3	1	592	1	0	0	0	0	1	0	0	0	12535	1059	37	1	489	1	PRCP	11	82550376	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13802041	82550376	52456140	358	49596											
PCF11	51585	broad.mit.edu	37	chr11	82877339	82877340	+	Frame_Shift_Del	DEL	AG	AG	-																															aacagaagagtcagaaaaacAggggacaaaaccagggagat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:82877339_82877340delAG	ENST00000298281.4	+	5	1852_1853	c.1400_1401delAG	c.(1399-1401)cagfs	p.Q467fs		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	467					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						TCAGAAAAACAGGGGACAAAAC	0.411													-	82877340	AG	-	82877339	7	5	592	1	0	1	0	1	0	0	0	0	11649	188	7	0	1418	0	PCF11	11	82877339	Frame_Shift_Del	DEL	AG	TCGA-HT-8564-01A-11D-2395-08	326963	82877339	52129177	359	49597											
FAT3	120114	broad.mit.edu	37	chr11	92568224	92568224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcggttatcagtgaagacGccttggtgggagactctgtc	7	11	15	8	2	2	3	1	1	1	2	3	4	2	3	1	3	1	1	1	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:92568224G>A	ENST00000298047.6	+	14	10077	c.10060G>A	c.(10060-10062)Gcc>Acc	p.A3354T	FAT3_ENST00000525166.1_Missense_Mutation_p.A3204T|FAT3_ENST00000409404.2_Missense_Mutation_p.A3354T			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3354	Cadherin 31.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CAGTGAAGACGCCTTGGTGGG	0.483										TCGA Ovarian(4;0.039)			A	92568224	G	A	92568224	3	1	592	1	0	0	0	0	1	0	0	0	5740	1087	38	1	10114	1	FAT3	11	92568224	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9690885	92568224	42438292	360	49598											
AMOTL1	154810	broad.mit.edu	37	chr11	94554766	94554766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcctcccagacctcttccGccagcgggccactgcactct	5	9	8	19	2	2	1	0	0	2	1	5	1	5	1	6	1	2	1	6	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:94554766G>A	ENST00000433060.2	+	4	1333	c.1192G>A	c.(1192-1194)Gcc>Acc	p.A398T	AMOTL1_ENST00000317829.8_Missense_Mutation_p.A348T|AMOTL1_ENST00000317837.9_Intron|AMOTL1_ENST00000539727.1_3'UTR	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	398						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				GACCTCTTCCGCCAGCGGGCC	0.662													A	94554766	G	A	94554766	3	1	592	1	0	0	0	0	1	0	0	0	583	1087	38	1	1206	1	AMOTL1	11	94554766	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1986542	94554766	40451750	361	49599											
AASDHPPT	60496	broad.mit.edu	37	chr11	105967614	105967614	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagaagaaattccaataCgaaatggtacaaagtcatga	19	8	7	7	1	2	3	2	1	0	2	3	4	3	3	1	1	2	1	1	1	7	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:105967614C>T	ENST00000278618.4	+	6	1132	c.910C>T	c.(910-912)Cga>Tga	p.R304*	RP11-677I18.3_ENST00000527594.1_RNA|RP11-677I18.3_ENST00000532422.1_RNA	NM_015423.2	NP_056238.2	Q9NRN7	ADPPT_HUMAN	aminoadipate-semialdehyde dehydrogenase-phosphopantetheinyl transferase	304					macromolecule biosynthetic process|pantothenate metabolic process	cytosol	holo-[acyl-carrier-protein] synthase activity|magnesium ion binding|protein binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)	17		Melanoma(852;0.000878)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0321)		BRCA - Breast invasive adenocarcinoma(274;5.78e-05)|Epithelial(105;0.00622)|all cancers(92;0.041)		AATTCCAATACGAAATGGTAC	0.348													T	105967614	C	T	105967614	4	4	592	1	0	0	0	0	0	1	0	0	23	528	19	1	932	1	AASDHPPT	11	105967614	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	11412848	105967614	29038902	362	49600											
PCSK7	9159	broad.mit.edu	37	chr11	117100140	117100140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcgttgaagtggacgctgcGcttggcccgccttagcagcc	5	9	14	13	4	0	1	0	1	0	0	1	2	0	2	3	2	3	4	3	2	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:117100140G>A	ENST00000320934.3	-	3	1051	c.421C>T	c.(421-423)Cgc>Tgc	p.R141C		NM_004716.2	NP_004707.2	Q16549	PCSK7_HUMAN	proprotein convertase subtilisin/kexin type 7	141		Cleavage; by autolysis (By similarity).			peptide hormone processing	integral to Golgi membrane	serine-type endopeptidase activity			NS(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|skin(1)	16	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.72e-06)|Epithelial(105;6.71e-05)|all cancers(92;0.000537)		TGGACGCTGCGCTTGGCCCGC	0.617			T	IGH@	MLCLS								A	117100140	G	A	117100140	3	1	592	1	0	0	0	0	1	0	0	0	11681	1087	38	1	1996	1	PCSK7	11	117100140	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11132526	117100140	17906376	363	49601											
ABCG4	64137	broad.mit.edu	37	chr11	119029628	119029628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagaccatggctgacGtgccctttcaggtgggcctc	6	9	13	13	1	1	2	1	1	0	1	2	2	1	2	4	4	1	1	4	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:119029628G>A	ENST00000307417.3	+	12	1790	c.1426G>A	c.(1426-1428)Gtg>Atg	p.V476M	ABCG4_ENST00000449422.2_Missense_Mutation_p.V476M|ABCG4_ENST00000531739.1_Missense_Mutation_p.V476M	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	476	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CATGGCTGACGTGCCCTTTCA	0.542													A	119029628	G	A	119029628	3	1	592	1	0	0	0	0	1	0	0	0	70	1145	40	1	1468	1	ABCG4	11	119029628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1929488	119029628	15976888	364	49602											
ZNF202	7753	broad.mit.edu	37	chr11	123596990	123596990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcagcgtgcgtcttccggtgCgccaggtaccgcctgtgttc	3	10	14	14	5	1	0	0	0	1	0	3	0	2	0	4	2	4	3	4	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123596990C>T	ENST00000336139.4	-	8	2024	c.1662G>A	c.(1660-1662)gcG>gcA	p.A554A	ZNF202_ENST00000530393.1_Silent_p.A554A|ZNF202_ENST00000529691.1_Silent_p.A554A			O95125	ZN202_HUMAN	zinc finger protein 202	554					lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(109;0.00204)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.03)		TCTTCCGGTGCGCCAGGTACC	0.577													T	123596990	C	T	123596990	2	4	592	1	0	0	0	0	0	0	0	1	17864	755	27	1		1	ZNF202	11	123596990	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4567362	123596990	11409526	365	49603											
OR10G7	390265	broad.mit.edu	37	chr11	123909049	123909049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccgcaggatggaacagacGatggacacataggacagcac	15	4	12	10	2	0	1	0	0	0	1	1	6	1	5	1	4	2	2	1	4	2	1	rs12291067	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr11:123909049G>A	ENST00000330487.5	-	1	668	c.660C>T	c.(658-660)atC>atT	p.I220I		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	220					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TGGAACAGACGATGGACACAT	0.557													A	123909049	G	A	123909049	2	1	592	1	0	0	0	0	0	0	0	1	10978	1048	37	1		1	OR10G7	11	123909049	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	312059	123909049	11097467	366	49604											
NINJ2	4815	broad.mit.edu	37	chr12	674455	674455	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccctgttttatgtgccccGaaggctgtaatgaaaacatt	12	12	8	9	1	0	1	0	1	0	0	0	2	0	1	3	1	3	3	3	1	6	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:674455G>A	ENST00000305108.4	-	3	793	c.513C>T	c.(511-513)ttC>ttT	p.F171F	NINJ2_ENST00000397265.3_Silent_p.F118F|NINJ2_ENST00000542920.1_Silent_p.F89F	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	125					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			TATGTGCCCCGAAGGCTGTAA	0.537													A	674455	G	A	674455	2	1	592	1	0	0	0	0	0	0	0	1	10495	1049	37	1		1	NINJ2	12	674455	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		674455	133177440	367	49605											
KCNA1	3736	broad.mit.edu	37	chr12	5021390	5021390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaaggaaaccagaagggCgagcaggccacctccctggc	12	2	14	13	1	0	1	0	0	0	1	1	4	1	3	4	5	2	1	4	5	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:5021390C>T	ENST00000382545.3	+	2	1953	c.846C>T	c.(844-846)ggC>ggT	p.G282G	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	282					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	ACCAGAAGGGCGAGCAGGCCA	0.517													T	5021390	C	T	5021390	2	4	592	1	0	0	0	0	0	0	0	1	8059	755	27	1		1	KCNA1	12	5021390	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4346935	5021390	128830505	368	49606											
CLSTN3	9746	broad.mit.edu	37	chr12	7310123	7310123	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatcattgtggtgtgcGtgggcttcctggtgctcatg	3	14	13	11	1	3	0	3	0	0	0	4	0	4	0	2	3	2	2	2	3	0	2	rs138735435		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:7310123G>A	ENST00000537408.1	+	16	3140	c.2602G>A	c.(2602-2604)Gtg>Atg	p.V868M	CLSTN3_ENST00000331148.5_3'UTR|CLSTN3_ENST00000266546.6_Missense_Mutation_p.V856M			Q9BQT9	CSTN3_HUMAN	calsyntenin 3	856					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	p.V856M(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						TGTGGTGTGCGTGGGCTTCCT	0.667													A	7310123	G	A	7310123	3	1	592	1	0	0	0	0	1	0	0	0	3594	1145	40	1	2632	1	CLSTN3	12	7310123	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2288733	7310123	126541772	369	49607											
KLRC2	3822	broad.mit.edu	37	chr12	10584712	10584712	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaagaacttacttatgttTgaaagccaaaccatttattg	16	13	5	7	0	0	2	0	1	0	1	0	2	0	2	2	0	4	1	2	0	8	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:10584712T>C	ENST00000381902.2	-	5	583	c.577A>G	c.(577-579)Aaa>Gaa	p.K193E	KLRC2_ENST00000536833.2_Missense_Mutation_p.K134E|NKG2-E_ENST00000539033.1_Intron|KLRC2_ENST00000381901.1_Missense_Mutation_p.K193E	NM_002260.3	NP_002251.2	P26717	NKG2C_HUMAN	killer cell lectin-like receptor subfamily C, member 2	193	C-type lectin.				cellular defense response	integral to plasma membrane	sugar binding|transmembrane receptor activity			kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11						TACTTATGTTTGAAAGCCAAA	0.313													C	10584712	T	C	10584712	3	2	592	1	0	0	0	0	1	0	0	0	8474	1821	63	3	126	3	KLRC2	12	10584712	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	3274589	10584712	123267183	370	49608											
LRP6	4040	broad.mit.edu	37	chr12	12302045	12302045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaggtcatagggttgtatttCcaggttctgactcggaactg	8	13	13	7	1	2	1	1	1	1	0	4	3	3	2	1	4	1	3	1	4	3	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:12302045C>T	ENST00000261349.4	-	14	3113	c.3037G>A	c.(3037-3039)Gaa>Aaa	p.E1013K	LRP6_ENST00000543091.1_Missense_Mutation_p.E1013K	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1013	Beta-propeller 4.				cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				GGTTGTATTTCCAGGTTCTGA	0.438													T	12302045	C	T	12302045	3	4	592	1	0	0	0	0	1	0	0	0	9032	864	30	2	1844	2	LRP6	12	12302045	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1717333	12302045	121549850	371	49609											
CACNB3	784	broad.mit.edu	37	chr12	49221502	49221504	+	In_Frame_Del	DEL	GGA	GGA	-																															cagcgtagctcccgccacctGgaggaggactatgcagatgc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49221502_49221504delGGA	ENST00000301050.2	+	13	1474_1476	c.1275_1277delGGA	c.(1273-1278)ctggag>ctg	p.E427del	CACNB3_ENST00000536187.2_In_Frame_Del_p.E426del|CACNB3_ENST00000547392.1_In_Frame_Del_p.E400del|CACNB3_ENST00000540990.1_In_Frame_Del_p.E414del|CACNB3_ENST00000547230.1_In_Frame_Del_p.E386del	NM_000725.3	NP_000716.2	P54284	CACB3_HUMAN	calcium channel, voltage-dependent, beta 3 subunit	427					axon guidance|membrane depolarization|synaptic transmission	cytosol|voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(1)|large_intestine(5)|lung(4)|prostate(1)	12					Verapamil(DB00661)	CCCGCCACCTGGAGGAGGACTAT	0.631													-	49221504	GGA	-	49221502	7	5	592	1	0	1	0	1	0	0	0	0	2580	1335	47	0	1325	0	CACNB3	12	49221502	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	36919457	49221502	84630393	372	49610											
DDN	23109	broad.mit.edu	37	chr12	49392947	49392947	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgactataatgacaggAaatagtcttcacttctatca	13	11	8	9	2	4	1	2	1	2	0	4	3	4	2	0	2	0	0	0	2	5	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:49392947A>G	ENST00000421952.2	-	1	145	c.124T>C	c.(124-126)Tcc>Ccc	p.S42P	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	42						dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon				NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						TAATGACAGGAAATAGTCTTC	0.607													G	49392947	A	G	49392947	3	3	592	1	0	0	0	0	1	0	0	0	4367	246	9	3	2019	3	DDN	12	49392947	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	171445	49392947	84458948	373	49611											
KRT83	3889	broad.mit.edu	37	chr12	52713013	52713013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccactgtcagcctccaCgcactcggcctcccgccgca	5	6	7	23	4	1	0	1	0	0	0	5	0	4	0	7	1	1	2	7	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:52713013C>T	ENST00000293670.3	-	2	582	c.520G>A	c.(520-522)Gtg>Atg	p.V174M		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	174	Coil 1B.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TCAGCCTCCACGCACTCGGCC	0.612													T	52713013	C	T	52713013	3	4	592	1	0	0	0	0	1	0	0	0	8555	536	19	1	993	1	KRT83	12	52713013	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3320066	52713013	81138882	374	49612											
ITGA7	3679	broad.mit.edu	37	chr12	56094110	56094110	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttctctccccccgcctcGtagggaccgtcgtccaggtg	3	10	10	18	4	1	0	0	0	1	0	7	1	4	1	7	2	0	1	7	2	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56094110G>A	ENST00000257880.7	-	5	957	c.738C>T	c.(736-738)taC>taT	p.Y246Y	ITGA7_ENST00000452168.2_Silent_p.Y149Y|ITGA7_ENST00000555728.1_Silent_p.Y246Y|ITGA7_ENST00000394229.2_Intron|ITGA7_ENST00000257879.6_Intron|ITGA7_ENST00000394230.2_Silent_p.Y246Y|ITGA7_ENST00000347027.6_Intron|ITGA7_ENST00000553804.1_Silent_p.Y246Y			Q13683	ITA7_HUMAN	integrin, alpha 7	246					cell-matrix adhesion|integrin-mediated signaling pathway|muscle organ development|regulation of cell shape	integrin complex	receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(16)|ovary(2)|prostate(2)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						CCCCCGCCTCGTAGGGACCGT	0.662													A	56094110	G	A	56094110	2	1	592	1	0	0	0	0	0	0	0	1	7939	1140	40	1		1	ITGA7	12	56094110	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3381097	56094110	77757785	375	49613											
SMARCC2	6601	broad.mit.edu	37	chr12	56568511	56568511	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactcttgggggttcagtcGgtaagtgtcaatcataaagt	11	13	11	6	1	4	0	3	0	1	0	5	0	4	0	0	3	1	2	0	3	5	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56568511G>A	ENST00000394023.3	-	16	1525	c.1420C>T	c.(1420-1422)Cga>Tga	p.R474*	SMARCC2_ENST00000347471.4_Nonsense_Mutation_p.R474*|SMARCC2_ENST00000550164.1_Nonsense_Mutation_p.R474*|RP11-977G19.5_ENST00000553176.1_RNA|SMARCC2_ENST00000267064.4_Nonsense_Mutation_p.R474*	NM_001130420.1	NP_001123892.1	Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	474	SWIRM.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGGTTCAGTCGGTAAGTGTCA	0.468													A	56568511	G	A	56568511	4	1	592	1	0	0	0	0	0	1	0	0	14870	1124	39	1	2373	1	SMARCC2	12	56568511	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	474401	56568511	77283384	376	49614											
TIMELESS	8914	broad.mit.edu	37	chr12	56815752	56815752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgatctgcttgcgtgttCgaggaacagtattcaggtgg	8	12	15	6	2	2	1	1	1	1	0	3	4	2	3	0	4	3	3	0	4	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:56815752C>T	ENST00000229201.4	-	21	2724	c.2570G>A	c.(2569-2571)cGa>cAa	p.R857Q	TIMELESS_ENST00000553532.1_Missense_Mutation_p.R858Q|TIMELESS_ENST00000554616.1_Missense_Mutation_p.R355Q	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	858					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CTTGCGTGTTCGAGGAACAGT	0.547													T	56815752	C	T	56815752	3	4	592	1	0	0	0	0	1	0	0	0	16004	884	31	1	1089	1	TIMELESS	12	56815752	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	247241	56815752	77036143	377	49615											
MARCH9	92979	broad.mit.edu	37	chr12	58152527	58152527	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggccccacctctggggccacGagccgccccccagctgccca	5	3	11	22	2	1	0	0	0	1	0	1	1	1	0	9	3	3	1	9	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:58152527G>A	ENST00000266643.5	+	4	1319	c.888G>A	c.(886-888)acG>acA	p.T296T	MARCH9_ENST00000548358.1_Silent_p.T183T	NM_138396.5	NP_612405.2	Q86YJ5	MARH9_HUMAN	membrane-associated ring finger (C3HC4) 9	296						Golgi membrane|Golgi stack|integral to membrane|lysosomal membrane|trans-Golgi network	ligase activity|zinc ion binding			autonomic_ganglia(1)|large_intestine(2)|lung(1)	4	all_cancers(7;4.96e-69)|Lung NSC(6;5.5e-25)|all_lung(6;3.87e-23)|all_epithelial(6;1.66e-15)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		GBM - Glioblastoma multiforme(5;4.21e-120)|all cancers(5;3.75e-83)|BRCA - Breast invasive adenocarcinoma(9;0.0294)			CTGGGGCCACGAGCCGCCCCC	0.652													A	58152527	G	A	58152527	2	1	592	1	0	0	0	0	0	0	0	1	9383	1045	37	1		1	MARCH9	12	58152527	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1336775	58152527	75699368	378	49616											
USP15	9958	broad.mit.edu	37	chr12	62715345	62715345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacacatttgaaccactgaaTaaaccagacagcaccattca	18	7	4	12	0	1	3	1	2	0	1	1	3	1	3	3	0	4	1	3	0	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:62715345T>C	ENST00000280377.5	+	5	634	c.576T>C	c.(574-576)aaT>aaC	p.N192N	USP15_ENST00000393654.3_Silent_p.N192N|USP15_ENST00000312635.6_Silent_p.N192N|USP15_ENST00000550632.1_3'UTR|USP15_ENST00000353364.3_Silent_p.N192N	NM_001252078.1	NP_001239007.1	Q9Y4E8	UBP15_HUMAN	ubiquitin specific peptidase 15	192					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(15)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	37			GBM - Glioblastoma multiforme(1;0.000276)	GBM - Glioblastoma multiforme(28;0.0622)		AACCACTGAATAAACCAGACA	0.333													C	62715345	T	C	62715345	2	2	592	1	0	0	0	0	0	0	0	1	17148	1403	49	3		3	USP15	12	62715345	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	4562818	62715345	71136550	379	49617											
XPOT	11260	broad.mit.edu	37	chr12	64811871	64811871	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagctaattagggagacGctcatatcatggctgcaagc	13	8	10	10	1	2	1	2	0	0	1	2	2	2	1	0	2	4	4	0	2	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:64811871G>A	ENST00000332707.5	+	5	775	c.246G>A	c.(244-246)acG>acA	p.T82T		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	82	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport|tRNA export from nucleus	cytoplasm|nucleoplasm	protein transporter activity|tRNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		TTAGGGAGACGCTCATATCAT	0.323													A	64811871	G	A	64811871	2	1	592	1	0	0	0	0	0	0	0	1	17552	1074	38	1		1	XPOT	12	64811871	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2096526	64811871	69040024	380	49618											
LEMD3	23592	broad.mit.edu	37	chr12	65637238	65637238	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagattcggaatatgttTgatcccgttatgtaagtatt	12	16	8	5	2	0	2	0	1	0	1	2	3	1	3	1	1	0	4	1	1	7	8			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:65637238T>C	ENST00000308330.2	+	10	2402	c.2376T>C	c.(2374-2376)ttT>ttC	p.F792F		NM_001167614.1|NM_014319.4	NP_001161086.1|NP_055134.2	Q9Y2U8	MAN1_HUMAN	LEM domain containing 3	792	Interaction with SMAD1, SMAD2, SMAD3 and SMAD5.				negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of transforming growth factor beta receptor signaling pathway	integral to nuclear inner membrane|membrane fraction	DNA binding|nucleotide binding|protein binding			breast(1)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	36			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.0104)		GGAATATGTTTGATCCCGTTA	0.318													C	65637238	T	C	65637238	2	2	592	1	0	0	0	0	0	0	0	1	8780	1809	63	3		3	LEMD3	12	65637238	Silent	SNP	T	TCGA-HT-8564-01A-11D-2395-08	825367	65637238	68214657	381	49619											
BEST3	144453	broad.mit.edu	37	chr12	70048984	70048984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgaatatattttcctcagcGctggctgaaactgtctgggg	8	14	11	8	1	2	2	1	2	1	0	3	2	3	2	1	3	2	2	1	3	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:70048984G>A	ENST00000330891.5	-	10	1936	c.1710C>T	c.(1708-1710)agC>agT	p.S570S	BEST3_ENST00000488961.1_Silent_p.S357S|BEST3_ENST00000331471.4_Intron|BEST3_ENST00000553096.1_Silent_p.S464S	NM_001282613.1|NM_032735.2	NP_001269542.1|NP_116124.2	Q8N1M1	BEST3_HUMAN	bestrophin 3	570						chloride channel complex|plasma membrane	chloride channel activity			cervix(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(2)	12	Breast(13;2.31e-06)|Esophageal squamous(21;0.187)		Lung(24;0.000278)|OV - Ovarian serous cystadenocarcinoma(12;0.0019)|STAD - Stomach adenocarcinoma(21;0.00694)			TTTCCTCAGCGCTGGCTGAAA	0.557													A	70048984	G	A	70048984	2	1	592	1	0	0	0	0	0	0	0	1	1411	1078	38	1		1	BEST3	12	70048984	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4411746	70048984	63802911	382	49620											
CCDC41	51134	broad.mit.edu	37	chr12	94769688	94769688	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacaatgtatttatttctcGttcagctttatgcaatttat	10	19	6	6	1	2	0	1	0	1	0	3	1	2	1	0	1	2	4	0	1	6	9			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:94769688G>A	ENST00000397809.5	-	8	1456	c.907C>T	c.(907-909)Cga>Tga	p.R303*	CCDC41_ENST00000547575.1_Nonsense_Mutation_p.R303*|CCDC41_ENST00000339839.5_Nonsense_Mutation_p.R303*|CCDC41_ENST00000397807.2_Nonsense_Mutation_p.R270*|CCDC41_ENST00000549352.1_5'UTR	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	295										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						TTTATTTCTCGTTCAGCTTTA	0.259													A	94769688	G	A	94769688	4	1	592	1	0	0	0	0	0	1	0	0	2840	1153	40	1	1238	1	CCDC41	12	94769688	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	24720704	94769688	39082207	383	49621											
NT5DC3	51559	broad.mit.edu	37	chr12	104208744	104208744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgatgagaaggtcccgtgCagcattaaatatcagcgtgt	12	11	11	7	2	1	2	1	2	0	1	2	3	2	2	1	1	3	2	1	1	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104208744C>T	ENST00000392876.3	-	2	404	c.364G>A	c.(364-366)Gca>Aca	p.A122T		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	122							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						AGGTCCCGTGCAGCATTAAAT	0.448													T	104208744	C	T	104208744	3	4	592	1	0	0	0	0	1	0	0	0	10768	710	25	2	1334	2	NT5DC3	12	104208744	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9439056	104208744	29643151	384	49622											
TDG	6996	broad.mit.edu	37	chr12	104376688	104376688	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatggtggaaaggaccaCgcccggcagcaaagatctct	13	5	11	12	2	1	1	0	0	1	1	2	3	1	3	2	4	2	2	2	4	3	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:104376688C>T	ENST00000392872.3	+	5	824	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TDG_ENST00000542036.1_Missense_Mutation_p.R21C|TDG_ENST00000544861.1_Missense_Mutation_p.T54M|TDG_ENST00000266775.9_Missense_Mutation_p.T193M	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase	197					depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		GAAAGGACCACGCCCGGCAGC	0.463								Base excision repair (BER), DNA glycosylases					T	104376688	C	T	104376688	3	4	592	1	0	0	0	0	1	0	0	0	15825	536	19	1	608	1	TDG	12	104376688	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	167944	104376688	29475207	385	49623											
KCTD10	83892	broad.mit.edu	37	chr12	109889453	109889453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgtggatcctccgcaCgcgctcgatccgctcccgct	4	10	10	17	6	0	1	0	1	0	0	5	3	4	2	4	1	0	4	4	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:109889453C>T	ENST00000228495.6	-	7	1170	c.889G>A	c.(889-891)Gtg>Atg	p.V297M	KCTD10_ENST00000538161.1_5'UTR|KCTD10_ENST00000424763.2_Missense_Mutation_p.V116M|KCTD10_ENST00000540411.1_Missense_Mutation_p.V271M|KCTD10_ENST00000540089.1_Missense_Mutation_p.V116M	NM_031954.3	NP_114160.1	Q9H3F6	BACD3_HUMAN	potassium channel tetramerization domain containing 10	297					proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination	Cul3-RING ubiquitin ligase complex|cytoplasm|nucleus|voltage-gated potassium channel complex	voltage-gated potassium channel activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	10						ATCCTCCGCACGCGCTCGATC	0.716													T	109889453	C	T	109889453	3	4	592	1	0	0	0	0	1	0	0	0	8155	536	19	1	56	1	KCTD10	12	109889453	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5512765	109889453	23962442	386	49624											
OAS1	4938	broad.mit.edu	37	chr12	113354493	113354494	+	Frame_Shift_Ins	INS	-	-	A																															ggacaaagtattatgactttINSaaaaaccccattattgaaaa																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:113354493_113354494insA	ENST00000452357.2	+	4	1024_1025	c.834_835insA	c.(835-837)aaafs	p.K279fs	OAS1_ENST00000551241.1_Frame_Shift_Ins_p.K279fs|RP1-71H24.1_ENST00000552784.1_RNA|OAS1_ENST00000202917.5_Frame_Shift_Ins_p.K279fs|OAS1_ENST00000445409.2_Frame_Shift_Ins_p.K279fs	NM_002534.2	NP_002525.2	P00973	OAS1_HUMAN	2'-5'-oligoadenylate synthetase 1, 40/46kDa	279					interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	endoplasmic reticulum|microsome|mitochondrion|nucleus	ATP binding|nucleotidyltransferase activity|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)|skin(1)	16						ATTATGACTTTAAAAACCCCAT	0.431													A	113354494	-	A	113354493	7	5	592	1	0	1	1	0	0	0	0	0	10875	1751	61	0	848	0	OAS1	12	113354493	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	3465040	113354493	20497402	387	49625											
CIT	11113	broad.mit.edu	37	chr12	120128190	120128190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctggggccttcgggcggCgctgggctggaggccacgcg	2	6	21	12	5	0	0	0	0	0	0	1	1	0	1	2	8	0	3	2	8	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120128190C>T	ENST00000392521.2	-	47	6007	c.5952G>A	c.(5950-5952)gcG>gcA	p.A1984A	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Silent_p.A1942A	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1942					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTTCGGGCGGCGCTGGGCTGG	0.706													T	120128190	C	T	120128190	2	4	592	1	0	0	0	0	0	0	0	1	3469	755	27	1		1	CIT	12	120128190	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6773697	120128190	13723705	388	49626											
CIT	11113	broad.mit.edu	37	chr12	120189940	120189940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagctggctctccagggccGcccgtgcagcctgcagggct	5	6	15	15	2	1	0	0	0	1	0	2	1	1	0	4	3	4	5	4	3	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:120189940G>A	ENST00000392521.2	-	23	2874	c.2819C>T	c.(2818-2820)gCg>gTg	p.A940V	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000261833.7_Missense_Mutation_p.A898V	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	898					intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		CTCCAGGGCCGCCCGTGCAGC	0.627													A	120189940	G	A	120189940	3	1	592	1	0	0	0	0	1	0	0	0	3469	1087	38	1	3494	1	CIT	12	120189940	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	61750	120189940	13661955	389	49627											
RNF10	9921	broad.mit.edu	37	chr12	121000755	121000755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccacgttagactcgggAagaggctctgtcgggattgg	7	9	16	9	3	1	2	0	0	1	2	3	4	1	4	1	5	0	2	1	5	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:121000755A>G	ENST00000325954.4	+	8	1597	c.1136A>G	c.(1135-1137)gAa>gGa	p.E379G	RNF10_ENST00000413266.2_Missense_Mutation_p.E379G	NM_014868.4	NP_055683.3	Q8N5U6	RNF10_HUMAN	ring finger protein 10	379					negative regulation of Schwann cell proliferation|positive regulation of myelination|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(11)|ovary(2)|upper_aerodigestive_tract(1)	27	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					TAGACTCGGGAAGAGGCTCTG	0.547													G	121000755	A	G	121000755	3	3	592	1	0	0	0	0	1	0	0	0	13513	246	9	3	1166	3	RNF10	12	121000755	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	810815	121000755	12851140	390	49628											
PITPNM2	57605	broad.mit.edu	37	chr12	123473364	123473364	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggggaaggccgtgagggcGtcagggcagtacagggcgta	8	5	21	7	3	1	1	1	1	0	0	1	2	1	2	1	6	1	3	1	6	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123473364G>A	ENST00000280562.5	-	18	2974	c.2769C>T	c.(2767-2769)gaC>gaT	p.D923D	PITPNM2_ENST00000392428.1_Silent_p.D650D|PITPNM2_ENST00000542749.1_Silent_p.D929D|PITPNM2_ENST00000320201.4_Silent_p.D929D			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	860	DDHD.				metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		CCGTGAGGGCGTCAGGGCAGT	0.642													A	123473364	G	A	123473364	2	1	592	1	0	0	0	0	0	0	0	1	12028	1136	40	1		1	PITPNM2	12	123473364	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2472609	123473364	10378531	391	49629											
PITPNM2	57605	broad.mit.edu	37	chr12	123479976	123479976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctggatggtatccagctCgtaggtggatgagtcgctcc	6	11	14	10	2	0	1	0	1	0	0	4	3	2	3	2	4	2	5	2	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:123479976C>T	ENST00000280562.5	-	13	2219	c.2014G>A	c.(2014-2016)Gag>Aag	p.E672K	PITPNM2_ENST00000392428.1_Missense_Mutation_p.E393K|PITPNM2_ENST00000542749.1_Missense_Mutation_p.E672K|PITPNM2_ENST00000320201.4_Missense_Mutation_p.E672K			Q9BZ72	PITM2_HUMAN	phosphatidylinositol transfer protein, membrane-associated 2	672					metabolic process|transport	endomembrane system|integral to membrane|intracellular membrane-bounded organelle	calcium ion binding|lipid binding			NS(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	39	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.55e-05)|Epithelial(86;8.43e-05)|BRCA - Breast invasive adenocarcinoma(302;0.123)		GTATCCAGCTCGTAGGTGGAT	0.647													T	123479976	C	T	123479976	3	4	592	1	0	0	0	0	1	0	0	0	12028	893	31	1	2087	1	PITPNM2	12	123479976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	6612	123479976	10371919	392	49630											
NCOR2	9612	broad.mit.edu	37	chr12	124826571	124826571	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtagggtgggtacaggtgCgggtaggtggggttgggggc	5	8	25	3	1	0	0	0	0	0	0	0	0	0	0	0	10	2	4	0	10	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:124826571C>T	ENST00000356219.3	-	35	5162	c.5007G>A	c.(5005-5007)ccG>ccA	p.P1669P	NCOR2_ENST00000404621.1_Silent_p.P1652P|NCOR2_ENST00000397355.1_Silent_p.P1653P|NCOR2_ENST00000405201.1_Silent_p.P1662P|NCOR2_ENST00000404121.2_Silent_p.P1223P|NCOR2_ENST00000429285.2_Silent_p.P1652P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1670					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GGTACAGGTGCGGGTAGGTGG	0.652													T	124826571	C	T	124826571	2	4	592	1	0	0	0	0	0	0	0	1	10312	755	27	1		1	NCOR2	12	124826571	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1346595	124826571	9025324	393	49631											
DHX37	57647	broad.mit.edu	37	chr12	125434988	125434988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccggtgacacagcaccCgcccccgctcggggcagtat	6	5	13	17	4	0	1	0	1	0	0	1	1	0	1	4	4	1	4	4	4	1	1	rs146274723	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:125434988C>T	ENST00000308736.2	-	23	3190	c.3092G>A	c.(3091-3093)cGg>cAg	p.R1031Q	DHX37_ENST00000544745.1_Missense_Mutation_p.R818Q	NM_032656.3	NP_116045.2	Q8IY37	DHX37_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 37	1031							ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			breast(5)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|liver(1)|lung(27)|ovary(1)|prostate(2)|skin(3)	65	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;8.05e-05)|Epithelial(86;0.000486)|all cancers(50;0.00653)		ACACAGCACCCGCCCCCGCTC	0.657													T	125434988	C	T	125434988	3	4	592	1	0	0	0	0	1	0	0	0	4549	652	23	1	401	1	DHX37	12	125434988	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	608417	125434988	8416907	394	49632											
TMEM132D	121256	broad.mit.edu	37	chr12	129566505	129566505	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggacccgcaccatggcGtgctggtactgcagggtgca	7	7	15	12	2	1	0	1	0	0	0	1	1	1	1	2	4	4	5	2	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:129566505G>A	ENST00000422113.2	-	7	2048	c.1722C>T	c.(1720-1722)caC>caT	p.H574H	TMEM132D_ENST00000389441.4_Silent_p.H112H	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	574						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GCACCATGGCGTGCTGGTACT	0.657													A	129566505	G	A	129566505	2	1	592	1	0	0	0	0	0	0	0	1	16147	1136	40	1		1	TMEM132D	12	129566505	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4131517	129566505	4285390	395	49633											
RIMBP2	23504	broad.mit.edu	37	chr12	130921520	130921520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccttccggggcccacgggcGgctccagcatgtgcccatgc	4	6	14	17	3	0	0	0	0	0	0	2	0	2	0	5	4	3	2	5	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130921520G>A	ENST00000261655.4	-	10	2085	c.1922C>T	c.(1921-1923)cCg>cTg	p.P641L	RIMBP2_ENST00000536002.1_Missense_Mutation_p.P549L|RIMBP2_ENST00000535703.1_Missense_Mutation_p.P549L	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	641	Pro-rich.					cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCCACGGGCGGCTCCAGCAT	0.711													A	130921520	G	A	130921520	3	1	592	1	0	0	0	0	1	0	0	0	13452	1116	39	1	1276	1	RIMBP2	12	130921520	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1355015	130921520	2930375	396	49634											
RIMBP2	23504	broad.mit.edu	37	chr12	130927121	130927121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctgctcgttccccagcGtgcttgccaaccgcgactcg	5	9	10	17	5	0	0	0	0	0	0	4	2	2	0	5	0	5	3	5	0	1	2	rs147881182	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:130927121G>A	ENST00000261655.4	-	8	888	c.725C>T	c.(724-726)aCg>aTg	p.T242M	RIMBP2_ENST00000536002.1_Missense_Mutation_p.T150M|RIMBP2_ENST00000535703.1_Missense_Mutation_p.T150M	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	242						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GTTCCCCAGCGTGCTTGCCAA	0.592													A	130927121	G	A	130927121	3	1	592	1	0	0	0	0	1	0	0	0	13452	1145	40	1	2481	1	RIMBP2	12	130927121	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5601	130927121	2924774	397	49635											
POLE	5426	broad.mit.edu	37	chr12	133214643	133214643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcgatggcatcttccacacGgcgcttctttgtacagagga	9	10	11	11	3	2	1	0	0	2	1	3	3	3	2	1	3	2	3	1	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133214643G>A	ENST00000320574.5	-	41	5678	c.5635C>T	c.(5635-5637)Cgt>Tgt	p.R1879C	POLE_ENST00000535270.1_Missense_Mutation_p.R1852C|POLE_ENST00000434528.3_5'UTR	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1879					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCTTCCACACGGCGCTTCTTT	0.547								DNA polymerases (catalytic subunits)					A	133214643	G	A	133214643	3	1	592	1	0	0	0	0	1	0	0	0	12273	1116	39	1	1261	1	POLE	12	133214643	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2287522	133214643	637252	398	49636											
POLE	5426	broad.mit.edu	37	chr12	133250239	133250239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcctagcttggccttggcGgccgccttgagattatgact	6	12	12	11	2	0	2	0	2	0	1	0	3	0	2	4	3	2	1	4	3	3	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133250239G>A	ENST00000320574.5	-	13	1324	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	POLE_ENST00000535270.1_Silent_p.A400A	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	427					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TGGCCTTGGCGGCCGCCTTGA	0.582								DNA polymerases (catalytic subunits)					A	133250239	G	A	133250239	2	1	592	1	0	0	0	0	0	0	0	1	12273	1103	39	1		1	POLE	12	133250239	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	35596	133250239	601656	399	49637											
POLE	5426	broad.mit.edu	37	chr12	133254167	133254167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctgccccactcaccacGtggatcttcaggtcaatgga	10	8	8	15	1	4	0	3	0	1	0	4	2	4	2	4	3	2	0	4	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr12:133254167G>A	ENST00000320574.5	-	7	760	c.717C>T	c.(715-717)caC>caT	p.H239H	POLE_ENST00000535270.1_Silent_p.H212H	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	239					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		CACTCACCACGTGGATCTTCA	0.498								DNA polymerases (catalytic subunits)					A	133254167	G	A	133254167	2	1	592	1	0	0	0	0	0	0	0	1	12273	1136	40	1		1	POLE	12	133254167	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3928	133254167	597728	400	49638											
CDC16	8881	broad.mit.edu	37	chr13	115016143	115016143	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagcagcacagctgaTgaaagggtacggcagagcaa	14	5	12	10	1	1	3	1	2	0	1	1	3	1	3	0	2	5	6	0	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr13:115016143T>C	ENST00000360383.3	+	12	1289	c.1091T>C	c.(1090-1092)aTg>aCg	p.M364T	CDC16_ENST00000375308.1_Missense_Mutation_p.M270T|CDC16_ENST00000252458.6_Missense_Mutation_p.M270T|CDC16_ENST00000252457.5_Missense_Mutation_p.M363T|CDC16_ENST00000356221.3_Missense_Mutation_p.M364T|CDC16_ENST00000375310.1_Missense_Mutation_p.M270T|CDC16_ENST00000375312.3_Missense_Mutation_p.M270T	NM_001078645.1|NM_003903.3	NP_001072113.1|NP_003894.3	Q13042	CDC16_HUMAN	cell division cycle 16	364					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cell proliferation|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	binding			endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22	Lung NSC(43;0.00299)|all_neural(89;0.0337)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0191)|all_epithelial(44;0.00716)|all_lung(25;0.0173)|Lung NSC(25;0.0634)|Breast(118;0.238)	BRCA - Breast invasive adenocarcinoma(86;0.0886)			GCACAGCTGATGAAAGGGTAC	0.428													C	115016143	T	C	115016143	3	2	592	1	0	0	0	0	1	0	0	0	3088	1464	51	3	1137	3	CDC16	13	115016143	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08		115016143	153735	401	49639											
TEP1	7011	broad.mit.edu	37	chr14	20846220	20846220	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcagtaactggcaacccGcatgcaggaaaagcgcagca	13	4	11	13	3	1	0	1	0	0	0	1	1	1	1	2	2	5	6	2	2	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:20846220G>A	ENST00000262715.5	-	39	5724	c.5684C>T	c.(5683-5685)gCg>gTg	p.A1895V	TEP1_ENST00000545983.1_Missense_Mutation_p.A233V|TEP1_ENST00000556935.1_Missense_Mutation_p.A1787V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1895					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CTGGCAACCCGCATGCAGGAA	0.592													A	20846220	G	A	20846220	3	1	592	1	0	0	0	0	1	0	0	0	15859	1087	38	1	2267	1	TEP1	14	20846220	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		20846220	86503320	402	49640											
NDRG2	57447	broad.mit.edu	37	chr14	21486616	21486616	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggaacaggttactgacCttgaggaacgaggtctgggt	10	8	14	9	1	1	2	0	2	1	0	1	5	1	4	2	5	3	1	2	5	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:21486616C>T	ENST00000556147.1	-	13	1801	c.861G>A	c.(859-861)aaG>aaA	p.K287K	NDRG2_ENST00000397844.2_Intron|NDRG2_ENST00000298684.5_Splice_Site_p.K244K|NDRG2_ENST00000397858.1_Splice_Site_p.K287K|NDRG2_ENST00000553503.1_Splice_Site_p.K273K|NDRG2_ENST00000350792.3_Splice_Site_p.K273K|NDRG2_ENST00000397856.3_Intron|NDRG2_ENST00000554104.1_Splice_Site_p.K200K|NDRG2_ENST00000298687.5_Splice_Site_p.K287K|NDRG2_ENST00000554143.1_Splice_Site_p.K273K|NDRG2_ENST00000397851.2_Splice_Site_p.K287K|NDRG2_ENST00000360463.3_Splice_Site_p.K273K|NDRG2_ENST00000397847.2_Splice_Site_p.K276K|NDRG2_ENST00000403829.3_Splice_Site_p.K283K|NDRG2_ENST00000555158.1_Splice_Site_p.K273K|NDRG2_ENST00000397853.3_Splice_Site_p.K287K|NDRG2_ENST00000397855.3_Splice_Site_p.K244K			Q9UN36	NDRG2_HUMAN	NDRG family member 2	287					cell differentiation|nervous system development	centrosome|cytosol|Golgi apparatus|nucleus|perinuclear region of cytoplasm				breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	23	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.0191)		GGTTACTGACCTTGAGGAACG	0.572													T	21486616	C	T	21486616	5	4	592	1	0	0	0	0	0	0	1	0	10328	695	24	2	270	2	NDRG2	14	21486616	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	640396	21486616	85862924	403	49641											
IRF9	10379	broad.mit.edu	37	chr14	24629769	24629769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgggacagagtatcccccGcaggcggaagtagctgaggg	9	6	16	10	2	0	2	0	1	0	1	1	4	1	4	2	4	1	4	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24629769G>A	ENST00000558468.1	+	13	1631	c.1631G>A	c.(1630-1632)cGc>cAc	p.R544H	RNF31_ENST00000559275.1_Missense_Mutation_p.R918H|RNF31_ENST00000382687.3_Missense_Mutation_p.R918H|RNF31_ENST00000324103.6_Missense_Mutation_p.R1069H																							AGTATCCCCCGCAGGCGGAAG	0.562											OREG0022619	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24629769	G	A	24629769	3	1	592	1	0	0	0	0	1	0	0	0	7895	1087	38	1		1	IRF9	14	24629769	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3143153	24629769	82719771	404	49642											
RABGGTA	5875	broad.mit.edu	37	chr14	24737796	24737796	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtatgttggggcaactggtcGttgagggaggcagcaggcag	8	8	19	6	1	0	1	0	1	0	0	1	2	0	2	0	6	2	7	0	6	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24737796G>A	ENST00000399409.3	-	9	1413	c.930C>T	c.(928-930)aaC>aaT	p.N310N	RABGGTA_ENST00000560777.1_Intron|RABGGTA_ENST00000216840.6_Silent_p.N310N	NM_004581.5	NP_004572.3	Q92696	PGTA_HUMAN	Rab geranylgeranyltransferase, alpha subunit	310					visual perception		Rab geranylgeranyltransferase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	12				GBM - Glioblastoma multiforme(265;0.0184)		GCAACTGGTCGTTGAGGGAGG	0.552													A	24737796	G	A	24737796	2	1	592	1	0	0	0	0	0	0	0	1	13055	1136	40	1		1	RABGGTA	14	24737796	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	108027	24737796	82611744	405	49643											
KHNYN	23351	broad.mit.edu	37	chr14	24901644	24901644	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagacaagcagcagggcatgGcacggggtcgggggcctcaa	10	3	18	10	2	1	1	1	0	0	1	2	2	1	1	1	6	2	4	1	6	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:24901644G>A	ENST00000251343.5	+	3	1316	c.1177G>A	c.(1177-1179)Gca>Aca	p.A393T	KHNYN_ENST00000553935.1_Missense_Mutation_p.A393T|KHNYN_ENST00000556842.1_Missense_Mutation_p.A393T			O15037	KHNYN_HUMAN	KH and NYN domain containing	393										kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						GCAGGGCATGGCACGGGGTCG	0.667											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24901644	G	A	24901644	3	1	592	1	0	0	0	0	1	0	0	0	8208	1203	42	2	1183	2	KHNYN	14	24901644	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	163848	24901644	82447896	406	49644											
FBXO34	55030	broad.mit.edu	37	chr14	55818984	55818984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgggttcgagatccaCgctatagagaggatccttgc	8	10	12	11	3	0	2	0	0	0	2	4	5	2	3	2	2	1	3	2	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:55818984C>T	ENST00000313833.4	+	2	2121	c.1876C>T	c.(1876-1878)Cgc>Tgc	p.R626C	FBXO34_ENST00000440021.1_Missense_Mutation_p.R626C	NM_017943.3	NP_060413.2	Q9NWN3	FBX34_HUMAN	F-box protein 34	626										breast(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|pancreas(1)|skin(2)|stomach(3)	22						TCGAGATCCACGCTATAGAGA	0.478													T	55818984	C	T	55818984	3	4	592	1	0	0	0	0	1	0	0	0	5793	536	19	1	1878	1	FBXO34	14	55818984	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	30917340	55818984	51530556	407	49645											
C14orf37	145407	broad.mit.edu	37	chr14	58605364	58605364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctgctgtggactcagcaCcaggaaaagaagttgtcctg	10	9	12	10	0	1	1	1	0	0	1	2	3	2	3	3	2	3	3	3	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:58605364C>T	ENST00000267485.7	-	2	907	c.713G>A	c.(712-714)gGt>gAt	p.G238D	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	238						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						GGACTCAGCACCAGGAAAAGA	0.498													T	58605364	C	T	58605364	3	4	592	1	0	0	0	0	1	0	0	0	1784	507	18	2	1639	2	C14orf37	14	58605364	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2786380	58605364	48744176	408	49646											
SPTB	6710	broad.mit.edu	37	chr14	65253771	65253771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactacctttgtcttgtccGtgatccacttgctggtctcc	4	15	7	15	1	2	1	0	1	2	0	5	1	4	1	5	1	2	1	5	1	1	4	rs138556050		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:65253771G>A	ENST00000389722.3	-	15	2965	c.2912C>T	c.(2911-2913)aCg>aTg	p.T971M	SPTB_ENST00000389720.3_Missense_Mutation_p.T971M|SPTB_ENST00000389721.5_Missense_Mutation_p.T971M|SPTB_ENST00000556626.1_Missense_Mutation_p.T971M|SPTB_ENST00000542895.1_Missense_Mutation_p.T971M	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	971					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton	p.T971M(2)		breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		TGTCTTGTCCGTGATCCACTT	0.592													A	65253771	G	A	65253771	3	1	592	1	0	0	0	0	1	0	0	0	15214	1145	40	1	4227	1	SPTB	14	65253771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6648407	65253771	42095769	409	49647											
PAPLN	89932	broad.mit.edu	37	chr14	73726060	73726060	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgaggtgaccccaggggcGaccaaggcacccacctgtca	11	3	12	15	2	1	1	1	1	0	0	1	3	1	1	5	4	1	1	5	4	2	0	rs151048072		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:73726060G>A	ENST00000427855.1	+	16	1894	c.1792G>A	c.(1792-1794)Gac>Aac	p.D598N	PAPLN_ENST00000340738.5_Missense_Mutation_p.D571N|PAPLN_ENST00000381166.3_Missense_Mutation_p.D598N|PAPLN_ENST00000555445.1_Missense_Mutation_p.D598N|PAPLN_ENST00000554301.1_Missense_Mutation_p.D598N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	598						proteinaceous extracellular matrix	metalloendopeptidase activity|serine-type endopeptidase inhibitor activity|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		CCCCAGGGGCGACCAAGGCAC	0.672													A	73726060	G	A	73726060	3	1	592	1	0	0	0	0	1	0	0	0	11504	1058	37	1	1765	1	PAPLN	14	73726060	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8472289	73726060	33623480	410	49648											
ESRRB	2103	broad.mit.edu	37	chr14	76905826	76905826	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcgtccgacgccagcggcGgctttggcctggccctgggc	2	7	16	16	5	0	0	0	0	0	0	2	1	1	0	4	5	1	2	4	5	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:76905826G>A	ENST00000380887.2	+	2	202	c.130G>A	c.(130-132)Ggc>Agc	p.G44S	ESRRB_ENST00000509242.1_Missense_Mutation_p.G44S|ESRRB_ENST00000556177.1_Missense_Mutation_p.G44S|ESRRB_ENST00000507951.1_3'UTR|ESRRB_ENST00000261532.7_Missense_Mutation_p.G44S			A2VDJ2	A2VDJ2_HUMAN	estrogen-related receptor beta	44						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(4)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(234;0.0213)		CGCCAGCGGCGGCTTTGGCCT	0.692													A	76905826	G	A	76905826	3	1	592	1	0	0	0	0	1	0	0	0	5302	1116	39	1	132	1	ESRRB	14	76905826	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3179766	76905826	30443714	411	49649											
CCDC88C	440193	broad.mit.edu	37	chr14	91806240	91806240	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgcacctcggtgcactcGtcccgctggtcgatgagcct	5	8	13	15	5	0	1	0	1	0	0	4	3	1	2	3	3	2	3	3	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:91806240G>A	ENST00000389857.6	-	7	698	c.612C>T	c.(610-612)gaC>gaT	p.D204D		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	204					microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				CGGTGCACTCGTCCCGCTGGT	0.677													A	91806240	G	A	91806240	2	1	592	1	0	0	0	0	0	0	0	1	2893	1136	40	1		1	CCDC88C	14	91806240	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14900414	91806240	15543300	412	49650											
RIN3	79890	broad.mit.edu	37	chr14	93118358	93118358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagtgcctgccccccacGtcacaccccatgccccaggt	6	5	7	23	1	1	0	1	0	0	0	1	0	1	0	10	1	3	0	10	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:93118358G>A	ENST00000216487.7	+	6	1123	c.964G>A	c.(964-966)Gtc>Atc	p.V322I	RIN3_ENST00000418924.2_3'UTR	NM_024832.3	NP_079108.3	Q8TB24	RIN3_HUMAN	Ras and Rab interactor 3	322	Pro-rich.				endocytosis|signal transduction	cytoplasmic membrane-bounded vesicle|early endosome	GTPase activator activity|Ras GTPase binding			endometrium(4)|kidney(2)|large_intestine(7)|lung(19)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	36		all_cancers(154;0.0701)				tgcccccCACGTCACACCCCA	0.711													A	93118358	G	A	93118358	3	1	592	1	0	0	0	0	1	0	0	0	13464	1145	40	1	986	1	RIN3	14	93118358	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1312118	93118358	14231182	413	49651											
AK7	122481	broad.mit.edu	37	chr14	96864584	96864584	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcccgcggcctgactttgCggtggagacgtactctgtaa	7	9	13	12	4	1	2	0	1	1	1	1	3	1	2	2	3	3	2	2	3	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:96864584C>T	ENST00000267584.4	+	2	322	c.278C>T	c.(277-279)gCg>gTg	p.A93V	AK7_ENST00000555570.1_Missense_Mutation_p.A93V|AK7_ENST00000554313.1_3'UTR	NM_152327.3	NP_689540.2	Q96M32	KAD7_HUMAN	adenylate kinase 7	93					cell projection organization	cytosol	adenylate kinase activity|ATP binding|cytidylate kinase activity			breast(2)|cervix(2)|endometrium(3)|large_intestine(8)|lung(11)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	31		all_cancers(154;0.0482)|all_epithelial(191;0.128)|Melanoma(154;0.155)		Epithelial(152;0.134)|COAD - Colon adenocarcinoma(157;0.228)		CCTGACTTTGCGGTGGAGACG	0.547													T	96864584	C	T	96864584	3	4	592	1	0	0	0	0	1	0	0	0	444	768	27	1	284	1	AK7	14	96864584	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3746226	96864584	10484956	414	49652											
TDRD9	122402	broad.mit.edu	37	chr14	104490932	104490932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggacttccagaagcagaCggtagatcctatgcaagtct	11	10	11	9	1	1	3	0	0	1	3	3	4	3	4	2	2	2	3	2	2	4	3	rs139118201	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr14:104490932C>T	ENST00000409874.4	+	25	2681	c.2633C>T	c.(2632-2634)aCg>aTg	p.T878M	TDRD9_ENST00000339063.5_Missense_Mutation_p.T878M	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	878					cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				CAGAAGCAGACGGTAGATCCT	0.343													T	104490932	C	T	104490932	3	4	592	1	0	0	0	0	1	0	0	0	15836	536	19	1	2731	1	TDRD9	14	104490932	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	7626348	104490932	2858608	415	49653											
TJP1	7082	broad.mit.edu	37	chr15	30003072	30003072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagaatgtatgtggagagaCgcgctggtgacaggctgaga	11	9	16	5	2	0	4	0	2	0	3	0	7	0	5	0	3	0	3	0	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:30003072C>T	ENST00000346128.6	-	24	4809	c.4335G>A	c.(4333-4335)gcG>gcA	p.A1445A	TJP1_ENST00000356107.6_Silent_p.A1445A|TJP1_ENST00000545208.2_Silent_p.A1365A|TJP1_ENST00000400011.2_Silent_p.A1369A	NM_003257.3|NM_175610.2	NP_003248.3|NP_783297.2	Q07157	ZO1_HUMAN	tight junction protein 1	1445					cell-cell junction assembly|cellular component disassembly involved in apoptosis	basolateral plasma membrane|cell-cell adherens junction|Golgi apparatus|tight junction				breast(4)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(1)	68		all_lung(180;7.48e-11)|Breast(32;0.000153)		all cancers(64;3.29e-10)|Epithelial(43;5.34e-09)|BRCA - Breast invasive adenocarcinoma(123;0.0034)|GBM - Glioblastoma multiforme(186;0.0139)|Lung(196;0.186)		TGTGGAGAGACGCGCTGGTGA	0.498													T	30003072	C	T	30003072	2	4	592	1	0	0	0	0	0	0	0	1	16029	523	19	1		1	TJP1	15	30003072	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08		30003072	72528320	416	49654											
ZNF770	54989	broad.mit.edu	37	chr15	35274621	35274621	+	Frame_Shift_Del	DEL	T	T	-																															acgcttaagcttggccaagaTttttttaacaatggttttat																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:35274621delT	ENST00000356321.4	-	3	1359	c.1015delA	c.(1015-1017)atcfs	p.I339fs		NM_014106.3	NP_054825.2	Q6IQ21	ZN770_HUMAN	zinc finger protein 770	339					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)	29		Lung NSC(122;4.59e-10)|all_lung(180;8.78e-09)		all cancers(64;1.97e-18)|GBM - Glioblastoma multiforme(113;2.11e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0643)		TTGGCCAAGATTTTTTTAACA	0.328													-	35274621	T	-	35274621	7	5	592	1	0	1	0	1	0	0	0	0	18243	1493	52	0	1064	0	ZNF770	15	35274621	Frame_Shift_Del	DEL	T	TCGA-HT-8564-01A-11D-2395-08	5271549	35274621	67256771	417	49655											
ZFYVE19	84936	broad.mit.edu	37	chr15	41102150	41102150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagcgcctagcacgactcCgccaggagaacaagcccagt	11	4	11	15	3	0	2	0	1	0	1	1	4	1	2	4	1	4	1	4	1	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:41102150C>T	ENST00000355341.4	+	4	1054	c.553C>T	c.(553-555)Cgc>Tgc	p.R185C	ZFYVE19_ENST00000570108.1_Missense_Mutation_p.R162C|ZFYVE19_ENST00000336455.5_Missense_Mutation_p.R175C|ZFYVE19_ENST00000564258.1_Missense_Mutation_p.R10C|ZFYVE19_ENST00000299173.10_Missense_Mutation_p.R185C	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	185							zinc ion binding	p.R185C(3)		endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		AGCACGACTCCGCCAGGAGAA	0.602													T	41102150	C	T	41102150	3	4	592	1	0	0	0	0	1	0	0	0	17766	652	23	1	567	1	ZFYVE19	15	41102150	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5827529	41102150	61429242	418	49656											
SQRDL	58472	broad.mit.edu	37	chr15	45974846	45974846	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccttcctacgtcaaagacCgctgctgcagtaggtaagtc	11	9	9	12	2	1	1	1	0	0	1	3	1	2	1	3	1	4	5	3	1	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:45974846C>T	ENST00000260324.7	+	7	1421	c.1035C>T	c.(1033-1035)acC>acT	p.T345T	SQRDL_ENST00000568606.1_Silent_p.T345T	NM_021199.3	NP_067022.1	Q9Y6N5	SQRD_HUMAN	sulfide quinone reductase-like (yeast)	345							oxidoreductase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)	11		Lung NSC(122;0.000117)|all_lung(180;0.000737)|Melanoma(134;0.0417)		all cancers(107;5.89e-18)|GBM - Glioblastoma multiforme(94;1.21e-06)|COAD - Colon adenocarcinoma(120;0.17)|Colorectal(133;0.188)		CGTCAAAGACCGCTGCTGCAG	0.478													T	45974846	C	T	45974846	2	4	592	1	0	0	0	0	0	0	0	1	15225	639	23	1		1	SQRDL	15	45974846	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4872696	45974846	56556546	419	49657											
PIGB	9488	broad.mit.edu	37	chr15	55647590	55647590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcacatatatgtctatgaacGgaagttaaaagggaaattca	17	11	8	5	1	3	1	2	1	1	0	3	3	3	3	0	2	1	1	0	2	8	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:55647590G>A	ENST00000164305.5	+	12	1916	c.1625G>A	c.(1624-1626)cGg>cAg	p.R542Q	DYX1C1-CCPG1_ENST00000565113.1_RNA|CCPG1_ENST00000310958.6_3'UTR|CCPG1_ENST00000442196.3_3'UTR|PIGB_ENST00000539642.1_Missense_Mutation_p.R347Q	NM_004855.4	NP_004846.4	Q92521	PIGB_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class B	542					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	integral to membrane|intrinsic to endoplasmic reticulum membrane	glycolipid mannosyltransferase activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	11				all cancers(107;0.0255)		GTCTATGAACGGAAGTTAAAA	0.358													A	55647590	G	A	55647590	3	1	592	1	0	0	0	0	1	0	0	0	11962	1116	39	1	1671	1	PIGB	15	55647590	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	9672744	55647590	46883802	420	49658											
IQCH	64799	broad.mit.edu	37	chr15	67629360	67629360	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctaacatatccagcctcacGgttctgccatcttctcattg	8	14	5	14	1	5	0	2	0	4	0	7	0	6	0	3	1	3	1	3	1	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:67629360G>A	ENST00000335894.4	+	5	501	c.435G>A	c.(433-435)acG>acA	p.T145T	IQCH_ENST00000546225.1_5'UTR|IQCH_ENST00000358767.3_5'UTR	NM_001031715.2	NP_001026885	Q86VS3	IQCH_HUMAN	IQ motif containing H	145										NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(9)|ovary(2)|pancreas(2)|skin(5)|upper_aerodigestive_tract(1)	33				Colorectal(3;0.0856)		CCAGCCTCACGGTTCTGCCAT	0.383													A	67629360	G	A	67629360	2	1	592	1	0	0	0	0	0	0	0	1	7869	1103	39	1		1	IQCH	15	67629360	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	11981770	67629360	34902032	421	49659											
UACA	55075	broad.mit.edu	37	chr15	70991907	70991907	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgcctggattgaccccCtttttagcaaggattgaggt	8	14	11	8	0	0	2	0	2	0	0	0	4	0	4	3	3	2	2	3	3	2	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:70991907C>T	ENST00000322954.6	-	2	356	c.171G>A	c.(169-171)aaG>aaA	p.K57K	UACA_ENST00000539319.1_Silent_p.K57K|UACA_ENST00000560441.1_Silent_p.K44K|UACA_ENST00000379983.2_Silent_p.K44K	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	57						cytoskeleton|extracellular region				breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						GATTGACCCCCTTTTTAGCAA	0.403													T	70991907	C	T	70991907	2	4	592	1	0	0	0	0	0	0	0	1	16926	680	24	2		2	UACA	15	70991907	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3362547	70991907	31539485	422	49660											
IL16	3603	broad.mit.edu	37	chr15	81592468	81592469	+	Frame_Shift_Ins	INS	-	-	C																															cagcccaatcagaaaactctINScccccctggcccggacccgc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:81592468_81592469insC	ENST00000394660.2	+	14	3161_3162	c.2801_2802insC	c.(2800-2805)ctccccfs	p.LP934fs	IL16_ENST00000394652.2_Frame_Shift_Ins_p.LP233fs|IL16_ENST00000302987.4_Frame_Shift_Ins_p.LP934fs	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	934				L -> F (in Ref. 1; AAD04636).	immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						CAGAAAACTCTCCCCCCTGGCC	0.644													C	81592469	-	C	81592468	7	5	592	1	0	1	1	0	0	0	0	0	7691	1551	54	0	2851	0	IL16	15	81592468	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	10600561	81592468	20938924	423	49661											
ADAMTSL3	57188	broad.mit.edu	37	chr15	84651306	84651306	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatggtcttgctgcccccGacatcggcgtgtaccggtgc	4	10	12	15	4	1	0	0	0	1	0	3	1	2	0	4	3	4	2	4	3	1	2	rs150618994		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:84651306G>A	ENST00000286744.5	+	21	3150	c.2926G>A	c.(2926-2928)Gac>Aac	p.D976N	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D976N	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	976	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			TGCTGCCCCCGACATCGGCGT	0.567													A	84651306	G	A	84651306	3	1	592	1	0	0	0	0	1	0	0	0	276	1058	37	1	3004	1	ADAMTSL3	15	84651306	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3058838	84651306	17880086	424	49662											
ALPK3	57538	broad.mit.edu	37	chr15	85382932	85382932	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctcccgctcctacctctaGgtgtcgagaagaagatgccg	9	8	10	14	3	1	3	0	0	1	3	4	4	3	3	5	1	2	1	5	1	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85382932G>A	ENST00000258888.5	+	5	1195		c.e5-1			NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3						heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CCTACCTCTAGGTGTCGAGAA	0.647													A	85382932	G	A	85382932	5	1	592	1	0	0	0	0	0	0	1	0	546	1014	35	2	1046	2	ALPK3	15	85382932	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	731626	85382932	17148460	425	49663											
ALPK3	57538	broad.mit.edu	37	chr15	85403041	85403041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggcggccttggccatcGtgcaggcctcccccgtagac	4	6	14	17	4	0	1	0	0	0	1	2	1	1	1	6	5	1	2	6	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:85403041G>A	ENST00000258888.5	+	8	4773	c.4606G>A	c.(4606-4608)Gtg>Atg	p.V1536M		NM_020778.4	NP_065829.3	Q96L96	ALPK3_HUMAN	alpha-kinase 3	1536	Ig-like 2.				heart development	nucleus	ATP binding|protein serine/threonine kinase activity			NS(3)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(4)|large_intestine(9)|lung(27)|ovary(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	81			BRCA - Breast invasive adenocarcinoma(143;0.0587)			CTTGGCCATCGTGCAGGCCTC	0.657													A	85403041	G	A	85403041	3	1	592	1	0	0	0	0	1	0	0	0	546	1145	40	1	4636	1	ALPK3	15	85403041	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	20109	85403041	17128351	426	49664											
AGBL1	123624	broad.mit.edu	37	chr15	86800128	86800128	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcccgtcatctctgtggtGcttcagatcctgaggcagtg	6	11	13	11	1	3	2	2	1	1	1	5	3	4	2	2	2	2	2	2	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:86800128G>A	ENST00000441037.2	+	7	737	c.642G>A	c.(640-642)gtG>gtA	p.V214V	AGBL1_ENST00000421325.2_Silent_p.V214V	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	214					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						TCTCTGTGGTGCTTCAGATCC	0.562													A	86800128	G	A	86800128	2	1	592	1	0	0	0	0	0	0	0	1	375	1306	46	2		2	AGBL1	15	86800128	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1397087	86800128	15731264	427	49665											
KIF7	374654	broad.mit.edu	37	chr15	90176401	90176401	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccaggctgaccacagagcCgttgctgccactgcgcctct	6	9	10	16	2	1	2	0	1	1	1	2	2	2	2	5	1	4	3	5	1	0	2	rs149548398		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:90176401C>T	ENST00000394412.3	-	13	2765	c.2689G>A	c.(2689-2691)Ggc>Agc	p.G897S		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	897					microtubule-based movement|negative regulation of smoothened signaling pathway|positive regulation of smoothened signaling pathway	cilium	ATP binding|microtubule motor activity|protein binding			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			ACCACAGAGCCGTTGCTGCCA	0.622													T	90176401	C	T	90176401	3	4	592	1	0	0	0	0	1	0	0	0	8367	652	23	1	1370	1	KIF7	15	90176401	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3376273	90176401	12354991	428	49666											
MAN2A2	4122	broad.mit.edu	37	chr15	91455396	91455396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcacggccggcagctgtccGtcagcaggcacgaagcgttt	7	7	14	13	5	1	0	1	0	0	0	2	1	2	0	2	3	4	6	2	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:91455396G>A	ENST00000360468.3	+	14	2251	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	MAN2A2_ENST00000559717.1_Missense_Mutation_p.V745I|MAN2A2_ENST00000431652.2_Missense_Mutation_p.V253I	NM_006122.2	NP_006113.2	P49641	MA2A2_HUMAN	mannosidase, alpha, class 2A, member 2	745					mannose metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-mannosidase activity|carbohydrate binding|mannosyl-oligosaccharide 1,3-1,6-alpha-mannosidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	47	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			GCAGCTGTCCGTCAGCAGGCA	0.647													A	91455396	G	A	91455396	3	1	592	1	0	0	0	0	1	0	0	0	9290	1145	40	1	2287	1	MAN2A2	15	91455396	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1278995	91455396	11075996	429	49667											
CHD2	1106	broad.mit.edu	37	chr15	93489391	93489391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaagaaattccagaattgcaTtgacagcttccacagtagga	16	9	8	8	0	0	3	0	1	0	2	2	4	2	4	2	1	2	3	2	1	4	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:93489391T>C	ENST00000394196.4	+	12	2390	c.1322T>C	c.(1321-1323)aTt>aCt	p.I441T	CHD2_ENST00000557381.1_Missense_Mutation_p.I441T|CHD2_ENST00000420239.2_Missense_Mutation_p.I441T|CHD2_ENST00000536619.1_Missense_Mutation_p.I454T	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	441	Chromo 2.				regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			CAGAATTGCATTGACAGCTTC	0.418													C	93489391	T	C	93489391	3	2	592	1	0	0	0	0	1	0	0	0	3355	1493	52	3	1364	3	CHD2	15	93489391	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	2033995	93489391	9042001	430	49668											
LRRK1	79705	broad.mit.edu	37	chr15	101567987	101567987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acaacgacatcaaggactacGaggacctgcagtcaggtggg	13	5	13	10	2	2	0	2	0	0	0	2	4	2	2	1	4	3	1	1	4	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr15:101567987G>A	ENST00000284395.5	+	20	3062	c.2662G>A	c.(2662-2664)Gag>Aag	p.E888K	LRRK1_ENST00000388948.3_Missense_Mutation_p.E891K			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	891					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CAAGGACTACGAGGACCTGCA	0.617													A	101567987	G	A	101567987	3	1	592	1	0	0	0	0	1	0	0	0	9102	1059	37	1	2741	1	LRRK1	15	101567987	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	8078596	101567987	963405	431	49669											
MSLN	10232	broad.mit.edu	37	chr16	814961	814961	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtttcttctcccgcatcacGaaggccaatgtggacctgct	7	11	9	14	3	3	0	1	0	2	0	4	2	3	1	3	2	1	3	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:814961G>A	ENST00000566549.1	+	7	852	c.435G>A	c.(433-435)acG>acA	p.T145T	MSLN_ENST00000545450.2_Silent_p.T145T|MSLN_ENST00000563941.1_Silent_p.T145T|MSLN_ENST00000382862.3_Silent_p.T145T			Q13421	MSLN_HUMAN	mesothelin	145					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CCCGCATCACGAAGGCCAATG	0.701													A	814961	G	A	814961	2	1	592	1	0	0	0	0	0	0	0	1	9957	1045	37	1		1	MSLN	16	814961	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08		814961	89539792	432	49670											
RPUSD1	113000	broad.mit.edu	37	chr16	836114	836114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctatcctcggggtcagggtCgggggtggcccgtaaggcct	4	8	17	12	3	1	0	1	0	0	0	4	0	2	0	4	7	0	1	4	7	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:836114C>T	ENST00000561734.1	-	5	1018	c.775G>A	c.(775-777)Gac>Aac	p.D259N	RPUSD1_ENST00000007264.2_Missense_Mutation_p.D259N|RPUSD1_ENST00000565809.1_3'UTR|RPUSD1_ENST00000567114.1_Missense_Mutation_p.D130N			Q9UJJ7	RUSD1_HUMAN	RNA pseudouridylate synthase domain containing 1	259	Pro-rich.				pseudouridine synthesis		pseudouridine synthase activity|RNA binding			endometrium(3)|lung(2)|skin(2)	7		Hepatocellular(780;0.00335)				GGGTCAGGGTCGGGGGTGGCC	0.726													T	836114	C	T	836114	3	4	592	1	0	0	0	0	1	0	0	0	13757	884	31	1	167	1	RPUSD1	16	836114	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21153	836114	89518639	433	49671											
PRR25	388199	broad.mit.edu	37	chr16	855739	855739	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctcaggaacagcgcagccGctcgcaaatgcagtgtgcga	11	5	13	12	4	1	0	1	0	0	0	2	2	1	1	1	1	6	5	1	1	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:855739G>A	ENST00000301698.1	+	1	297	c.297G>A	c.(295-297)ccG>ccA	p.P99P		NM_001013638.1	NP_001013660.1	Q96S07	PRR25_HUMAN	proline rich 25	99										large_intestine(1)|lung(1)|skin(1)	3						CAGCGCAGCCGCTCGCAAATG	0.647													A	855739	G	A	855739	2	1	592	1	0	0	0	0	0	0	0	1	12682	1074	38	1		1	PRR25	16	855739	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	19625	855739	89499014	434	49672											
CACNA1H	8912	broad.mit.edu	37	chr16	1250283	1250283	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacctgaccttcctgcggccGtactaccagacggaggaggg	9	6	13	13	3	0	2	0	1	0	1	1	4	1	4	5	4	4	1	5	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1250283G>A	ENST00000348261.5	+	7	1079	c.831G>A	c.(829-831)ccG>ccA	p.P277P	CACNA1H_ENST00000358590.4_Silent_p.P277P|CACNA1H_ENST00000565831.1_Silent_p.P277P	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	277					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCTGCGGCCGTACTACCAGA	0.632													A	1250283	G	A	1250283	2	1	592	1	0	0	0	0	0	0	0	1	2571	1132	40	1		1	CACNA1H	16	1250283	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	394544	1250283	89104470	435	49673											
TPSAB1	7177	broad.mit.edu	37	chr16	1292148	1292148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggcgtggtcagctggggCgagggctgtgcccagcccaa	5	5	19	12	3	1	0	1	0	0	0	1	1	1	0	2	5	3	2	2	5	1	0	rs147278526	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:1292148C>T	ENST00000461509.2	+	5	950	c.756C>T	c.(754-756)ggC>ggT	p.G252G	TPSAB1_ENST00000338844.3_Silent_p.G245G			P20231	TRYB2_HUMAN	tryptase alpha/beta 1	245	Peptidase S1.				proteolysis	extracellular region	protein binding|serine-type endopeptidase activity			NS(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)|skin(1)	10		Hepatocellular(780;0.00369)				TCAGCTGGGGCGAGGGCTGTG	0.657													T	1292148	C	T	1292148	2	4	592	1	0	0	0	0	0	0	0	1	16524	755	27	1		1	TPSAB1	16	1292148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	41865	1292148	89062605	436	49674											
RAB26	25837	broad.mit.edu	37	chr16	2202854	2202854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatccacgagtacgcccagCacgacgtggcgctcatgctg	9	6	12	14	5	1	1	1	0	0	1	2	3	2	1	2	1	3	4	2	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2202854C>T	ENST00000210187.6	+	6	662	c.502C>T	c.(502-504)Cac>Tac	p.H168Y	RAB26_ENST00000541451.1_Missense_Mutation_p.H102Y	NM_014353.4	NP_055168.2	Q9ULW5	RAB26_HUMAN	RAB26, member RAS oncogene family	168					exocrine system development|protein transport|regulation of exocytosis|small GTPase mediated signal transduction	intrinsic to plasma membrane	GTP binding|protein binding			kidney(1)|large_intestine(1)|lung(3)	5						GTACGCCCAGCACGACGTGGC	0.687													T	2202854	C	T	2202854	3	4	592	1	0	0	0	0	1	0	0	0	13001	710	25	2	524	2	RAB26	16	2202854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	910706	2202854	88151899	437	49675											
ABCA3	21	broad.mit.edu	37	chr16	2367755	2367755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgctgagccccatcatgCgcatgtactcctggggagag	8	8	13	12	1	1	2	1	1	0	1	2	3	2	2	3	2	5	4	3	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2367755C>T	ENST00000301732.5	-	9	1584	c.884G>A	c.(883-885)cGc>cAc	p.R295H	ABCA3_ENST00000382381.3_Missense_Mutation_p.R295H	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	295					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				CCCCATCATGCGCATGTACTC	0.627													T	2367755	C	T	2367755	3	4	592	1	0	0	0	0	1	0	0	0	33	768	27	1	4330	1	ABCA3	16	2367755	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	164901	2367755	87986998	438	49676											
NTN3	4917	broad.mit.edu	37	chr16	2522004	2522004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggagtccctgcctcgggCgcccctcaacgtgactctca	5	8	10	18	4	2	1	2	1	1	0	6	2	3	2	4	2	2	0	4	2	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522004C>T	ENST00000293973.1	+	1	505	c.302C>T	c.(301-303)gCg>gTg	p.A101V		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	101	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						CTGCCTCGGGCGCCCCTCAAC	0.706													T	2522004	C	T	2522004	3	4	592	1	0	0	0	0	1	0	0	0	10777	768	27	1	304	1	NTN3	16	2522004	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	154249	2522004	87832749	439	49677											
NTN3	4917	broad.mit.edu	37	chr16	2522180	2522180	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtgacctggactatggcCgtctgcctgcccctgccaat	6	10	10	15	1	1	1	0	1	1	0	1	2	1	2	6	2	3	0	6	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:2522180C>T	ENST00000293973.1	+	1	681	c.478C>T	c.(478-480)Cgt>Tgt	p.R160C		NM_006181.2	NP_006172.1	O00634	NET3_HUMAN	netrin 3	160	Laminin N-terminal.				axon guidance|muscle cell differentiation|positive regulation of muscle cell differentiation	proteinaceous extracellular matrix				breast(1)|central_nervous_system(2)|lung(3)|prostate(1)	7						GGACTATGGCCGTCTGCCTGC	0.697													T	2522180	C	T	2522180	3	4	592	1	0	0	0	0	1	0	0	0	10777	652	23	1	480	1	NTN3	16	2522180	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	176	2522180	87832573	440	49678											
ZNF205	7755	broad.mit.edu	37	chr16	3169669	3169669	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacacgggcgagaagccctaCgcctgcactgactgcgggaa	10	4	13	14	4	0	2	0	1	0	1	0	4	0	3	2	2	4	1	2	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:3169669C>T	ENST00000382192.3	+	7	1213	c.1008C>T	c.(1006-1008)taC>taT	p.Y336Y	RP11-473M20.14_ENST00000575139.1_RNA|RP11-473M20.14_ENST00000576490.1_RNA|ZNF205_ENST00000219091.4_Silent_p.Y336Y	NM_001278158.1|NM_003456.2	NP_001265087.1|NP_003447.2	O95201	ZN205_HUMAN	zinc finger protein 205	336					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	20						AGAAGCCCTACGCCTGCACTG	0.682													T	3169669	C	T	3169669	2	4	592	1	0	0	0	0	0	0	0	1	17865	547	19	1		1	ZNF205	16	3169669	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647489	3169669	87185084	441	49679											
ABAT	18	broad.mit.edu	37	chr16	8858658	8858658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctgctccaatgaaaacGccttaaagaccatcttcatg	12	10	6	13	1	2	2	1	1	1	1	4	2	4	2	4	0	2	2	4	0	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:8858658G>A	ENST00000396600.2	+	8	1449	c.511G>A	c.(511-513)Gcc>Acc	p.A171T	ABAT_ENST00000268251.8_Missense_Mutation_p.A171T|ABAT_ENST00000425191.2_Missense_Mutation_p.A171T|ABAT_ENST00000567812.1_Missense_Mutation_p.A186T|ABAT_ENST00000569156.1_Missense_Mutation_p.A171T	NM_000663.4	NP_000654.2	P80404	GABT_HUMAN	4-aminobutyrate aminotransferase	171				MSQLITMACGSCSNENA -> CPSSSPWPACPAPMKTT (in Ref. 2; AAB38510).	behavioral response to cocaine|gamma-aminobutyric acid catabolic process|neurotransmitter catabolic process|neurotransmitter secretion	4-aminobutyrate transaminase complex|mitochondrial matrix	(S)-3-amino-2-methylpropionate transaminase activity|4-aminobutyrate transaminase activity|protein homodimerization activity|pyridoxal phosphate binding|succinate-semialdehyde dehydrogenase binding	p.A171T(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	26					Divalproex sodium(DB00510)|Isoniazid(DB00951)|L-Alanine(DB00160)|L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)|Tiagabine(DB00906)|Valproic Acid(DB00313)|Vigabatrin(DB01080)	CAATGAAAACGCCTTAAAGAC	0.592													A	8858658	G	A	8858658	3	1	592	1	0	0	0	0	1	0	0	0	27	1087	38	1	537	1	ABAT	16	8858658	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5688989	8858658	81496095	442	49680											
KIAA0430	9665	broad.mit.edu	37	chr16	15711316	15711316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaggagacacaccagccGtccgtttccttgttcacgga	8	9	12	12	3	1	1	1	0	0	1	3	3	3	2	4	3	1	3	4	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15711316G>A	ENST00000396368.3	-	14	3003	c.2797C>T	c.(2797-2799)Cgg>Tgg	p.R933W	KIAA0430_ENST00000344181.3_Missense_Mutation_p.R575W|KIAA0430_ENST00000551742.1_Missense_Mutation_p.R933W|KIAA0430_ENST00000540441.2_Missense_Mutation_p.R768W|KIAA0430_ENST00000602337.1_Missense_Mutation_p.R930W|KIAA0430_ENST00000548025.1_Missense_Mutation_p.R930W	NM_001184998.1|NM_001184999.1|NM_014647.3	NP_001171927.1|NP_001171928.1|NP_055462.2	Q9Y4F3	LKAP_HUMAN	KIAA0430	932						peroxisome	nucleotide binding|RNA binding			breast(4)|endometrium(8)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(5)|skin(1)	40						CACACCAGCCGTCCGTTTCCT	0.512													A	15711316	G	A	15711316	3	1	592	1	0	0	0	0	1	0	0	0	8235	1144	40	1	2487	1	KIAA0430	16	15711316	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6852658	15711316	74643437	443	49681											
NDE1	54820	broad.mit.edu	37	chr16	15758701	15758701	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactattggaaagatctggcGatgacctacaaacagaggtc	15	8	10	8	1	1	3	0	1	1	2	2	5	1	4	1	3	3	0	1	3	5	3	rs143820142		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:15758701G>A	ENST00000396355.1	+	3	892	c.66G>A	c.(64-66)gcG>gcA	p.A22A	NDE1_ENST00000396354.1_Silent_p.A22A|NDE1_ENST00000396353.2_Silent_p.A22A|NDE1_ENST00000342673.5_Silent_p.A22A	NM_001143979.1	NP_001137451.1	Q9NXR1	NDE1_HUMAN	nudE neurodevelopment protein 1	22	Self-association (By similarity).				cell differentiation|cell division|centrosome duplication|establishment of chromosome localization|establishment of mitotic spindle orientation|G2/M transition of mitotic cell cycle|mitotic prometaphase|nervous system development	cleavage furrow|condensed chromosome kinetochore|cytosol|microtubule|spindle pole centrosome	microtubule binding			endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						AAGATCTGGCGATGACCTACA	0.473													A	15758701	G	A	15758701	2	1	592	1	0	0	0	0	0	0	0	1	10319	1045	37	1		1	NDE1	16	15758701	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	47385	15758701	74596052	444	49682											
DNAH3	55567	broad.mit.edu	37	chr16	21049298	21049298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgcaacgatcttctgggCgagactagaagggcaaagac	12	6	14	9	3	2	3	0	0	2	3	3	5	2	3	0	3	1	2	0	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:21049298C>T	ENST00000261383.3	-	34	4734	c.4735G>A	c.(4735-4737)Gcc>Acc	p.A1579T	DNAH3_ENST00000415178.1_Missense_Mutation_p.A1579T	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1579	AAA 1 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATCTTCTGGGCGAGACTAGAA	0.552													T	21049298	C	T	21049298	3	4	592	1	0	0	0	0	1	0	0	0	4642	768	27	1	7730	1	DNAH3	16	21049298	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5290597	21049298	69305455	445	49683											
IL21R	50615	broad.mit.edu	37	chr16	27445714	27445714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacaccgattacctccagacGgtcatctgcatcctggaaat	11	10	7	13	2	2	1	1	0	1	1	4	3	4	2	4	2	3	1	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:27445714G>A	ENST00000337929.3	+	3	569	c.96G>A	c.(94-96)acG>acA	p.T32T	IL21R_ENST00000395755.1_Silent_p.T32T|IL21R_ENST00000395754.4_Silent_p.T32T|IL21R_ENST00000564089.1_Silent_p.T32T	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	32					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						ACCTCCAGACGGTCATCTGCA	0.632			T	BCL6	NHL								A	27445714	G	A	27445714	2	1	592	1	0	0	0	0	0	0	0	1	7729	1103	39	1		1	IL21R	16	27445714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	6396416	27445714	62909039	446	49684											
SEZ6L2	26470	broad.mit.edu	37	chr16	29900012	29900012	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcacgtccccatgggcCggccggggagggaagccaca	9	3	14	15	3	1	0	1	0	0	0	2	2	2	2	5	5	1	0	5	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:29900012C>T	ENST00000308713.5	-	6	1415	c.888G>A	c.(886-888)ccG>ccA	p.P296P	SEZ6L2_ENST00000562159.1_5'UTR|SEZ6L2_ENST00000350527.3_Silent_p.P226P|SEZ6L2_ENST00000537485.1_Silent_p.P252P|SEZ6L2_ENST00000346932.5_Silent_p.P182P	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	296	Sushi 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CCCCATGGGCCGGCCGGGGAG	0.637													T	29900012	C	T	29900012	2	4	592	1	0	0	0	0	0	0	0	1	14237	639	23	1		1	SEZ6L2	16	29900012	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2454298	29900012	60454741	447	49685											
C16orf92	146378	broad.mit.edu	37	chr16	30035371	30035371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggcttgctggtggtggCgttcttctttctccttttcc	0	18	13	10	1	3	0	0	0	3	0	5	0	4	0	2	5	1	3	2	5	0	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:30035371C>T	ENST00000300575.2	+	3	362	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	114						integral to membrane				breast(3)|lung(3)	6						CTGGTGGTGGCGTTCTTCTTT	0.582													T	30035371	C	T	30035371	3	4	592	1	0	0	0	0	1	0	0	0	1859	768	27	1	365	1	C16orf92	16	30035371	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	135359	30035371	60319382	448	49686											
TRIM72	493829	broad.mit.edu	37	chr16	31230620	31230620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccctgcaggagacagtgcGtcagttccggggggccgtgg	6	7	17	11	3	1	1	1	0	0	1	3	2	3	1	3	5	2	2	3	5	0	1	rs140684083	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31230620G>A	ENST00000322122.3	+	4	781	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001008274.3	NP_001008275.2	Q6ZMU5	TRI72_HUMAN	tripartite motif containing 72	166					exocytosis|muscle organ development|muscle system process|plasma membrane repair|protein homooligomerization	cytoplasmic vesicle membrane|sarcolemma	phosphatidylserine binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(9)|skin(1)	15						GAGACAGTGCGTCAGTTCCGG	0.647													A	31230620	G	A	31230620	3	1	592	1	0	0	0	0	1	0	0	0	16646	1145	40	1	507	1	TRIM72	16	31230620	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1195249	31230620	59124133	449	49687											
C16orf58	64755	broad.mit.edu	37	chr16	31512031	31512031	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaccaggcaaagacgatgCggcccagcatgccagttgaa	12	5	11	13	2	0	2	0	1	0	1	1	3	1	2	4	2	3	3	4	2	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:31512031C>T	ENST00000327237.2	-	3	476	c.437G>A	c.(436-438)cGc>cAc	p.R146H	C16orf58_ENST00000430477.2_Missense_Mutation_p.R4H|C16orf58_ENST00000567994.1_Missense_Mutation_p.R101H|C16orf58_ENST00000570164.1_Missense_Mutation_p.R146H			Q96GQ5	CP058_HUMAN	chromosome 16 open reading frame 58	146						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)	14						AAAGACGATGCGGCCCAGCAT	0.542													T	31512031	C	T	31512031	3	4	592	1	0	0	0	0	1	0	0	0	1836	768	27	1	1013	1	C16orf58	16	31512031	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	281411	31512031	58842722	450	49688											
CHD9	80205	broad.mit.edu	37	chr16	53190078	53190078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaggtttgtcagatgatgCatttgtacaaccaggacctg	12	11	11	7	0	1	3	1	1	0	2	1	4	1	4	2	2	3	3	2	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53190078C>T	ENST00000566029.1	+	2	286	c.77C>T	c.(76-78)gCa>gTa	p.A26V	CHD9_ENST00000447540.1_Missense_Mutation_p.A26V|CHD9_ENST00000398510.3_Missense_Mutation_p.A26V|CHD9_ENST00000564845.1_Missense_Mutation_p.A26V			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	26					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				TCAGATGATGCATTTGTACAA	0.388													T	53190078	C	T	53190078	3	4	592	1	0	0	0	0	1	0	0	0	3362	710	25	2	79	2	CHD9	16	53190078	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	21678047	53190078	37164675	451	49689											
CHD9	80205	broad.mit.edu	37	chr16	53260306	53260307	+	Frame_Shift_Ins	INS	-	-	A																															tcaaatcgacaaattaaaagINSaaaaaaatacgcagaagata																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:53260306_53260307insA	ENST00000566029.1	+	5	2134_2135	c.1925_1926insA	c.(1924-1929)agaaaafs	p.RK642fs	CHD9_ENST00000398510.3_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000447540.1_Frame_Shift_Ins_p.RK642fs|CHD9_ENST00000564845.1_Frame_Shift_Ins_p.RK642fs			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	642	Lys-rich.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CAAATTAAAAGAAAAAAATACG	0.292													A	53260307	-	A	53260306	7	5	592	1	0	1	1	0	0	0	0	0	3362	942	33	0	1939	0	CHD9	16	53260306	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	70228	53260306	37094447	452	49690											
LPCAT2	54947	broad.mit.edu	37	chr16	55613052	55613052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgatgaggatggctacataaCggaggaagagttctccacca	13	8	12	8	1	1	3	0	2	1	1	2	6	1	6	2	4	2	2	2	4	3	3	rs142090669	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:55613052C>T	ENST00000262134.5	+	13	1530	c.1346C>T	c.(1345-1347)aCg>aTg	p.T449M	LPCAT2_ENST00000565056.1_3'UTR	NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	449	EF-hand 2.				cellular membrane organization|platelet activating factor biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|Golgi stack|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity|1-alkylglycerophosphocholine O-acetyltransferase activity|calcium ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						GGCTACATAACGGAGGAAGAG	0.433													T	55613052	C	T	55613052	3	4	592	1	0	0	0	0	1	0	0	0	8981	536	19	1	1396	1	LPCAT2	16	55613052	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2352746	55613052	34741701	453	49691											
CDH5	1003	broad.mit.edu	37	chr16	66424460	66424460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccattgagacaaacccCgcccacaacgagggcatcat	13	6	7	15	2	2	1	2	1	0	1	2	3	2	1	4	1	2	1	4	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:66424460C>T	ENST00000341529.3	+	6	1084	c.936C>T	c.(934-936)ccC>ccT	p.P312P	CDH5_ENST00000563425.2_Silent_p.P312P	NM_001795.3	NP_001786.2	P33151	CADH5_HUMAN	cadherin 5, type 2 (vascular endothelium)	312	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|regulation of establishment of cell polarity	integral to membrane|membrane fraction	beta-catenin binding|calcium ion binding|ion channel binding|receptor binding			central_nervous_system(1)|endometrium(3)|kidney(18)|large_intestine(2)|lung(17)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	54		Ovarian(137;0.0955)		OV - Ovarian serous cystadenocarcinoma(108;0.107)		AGACAAACCCCGCCCACAACG	0.557													T	66424460	C	T	66424460	2	4	592	1	0	0	0	0	0	0	0	1	3143	639	23	1		1	CDH5	16	66424460	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	10811408	66424460	23930293	454	49692											
TRADD	8717	broad.mit.edu	37	chr16	67188655	67188655	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggcgctgcagcgtggcgCggcggccctcggcctgcacg	3	4	17	17	7	0	0	0	0	0	0	1	0	0	0	3	5	3	3	3	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67188655C>T	ENST00000345057.4	-	5	1304	c.836G>A	c.(835-837)cGc>cAc	p.R279H	TRADD_ENST00000486556.1_Missense_Mutation_p.R219H	NM_003789.3	NP_003780.1	Q15628	TRADD_HUMAN	TNFRSF1A-associated via death domain	279	Death.|Interaction with KRT14 and KRT18.				activation of caspase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|tumor necrosis factor-mediated signaling pathway	cytoskeleton|cytosol|receptor complex	binding, bridging|death domain binding|identical protein binding|kinase binding|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	11		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CAGCGTGGCGCGGCGGCCCTC	0.706													T	67188655	C	T	67188655	3	4	592	1	0	0	0	0	1	0	0	0	16537	768	27	1	106	1	TRADD	16	67188655	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	764195	67188655	23166098	455	49693											
SLC9A5	6553	broad.mit.edu	37	chr16	67289369	67289369	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccactgactacctgaaggGagtcggtcagtatttccccg	8	9	12	12	2	1	2	1	2	0	0	3	3	2	3	4	3	1	1	4	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67289369G>A	ENST00000299798.11	+	4	793	c.728G>A	c.(727-729)gGa>gAa	p.G243E	SLC9A5_ENST00000561472.2_3'UTR	NM_004594.2	NP_004585.1	Q14940	SL9A5_HUMAN	solute carrier family 9, subfamily A (NHE5, cation proton antiporter 5), member 5	243					regulation of pH	integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)		TACCTGAAGGGAGTCGGTCAG	0.587													A	67289369	G	A	67289369	3	1	592	1	0	0	0	0	1	0	0	0	14811	1174	41	2	742	2	SLC9A5	16	67289369	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	100714	67289369	23065384	456	49694											
FAM65A	79567	broad.mit.edu	37	chr16	67572573	67572575	+	In_Frame_Del	DEL	AGG	AGG	-																															ctgaggacagcctctccttcAggagtttcccggtcttcagc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67572573_67572575delAGG	ENST00000379312.3	+	3	236_238	c.115_117delAGG	c.(115-117)aggdel	p.R39del	FAM65A_ENST00000422602.2_Splice_Site_p.K55del|FAM65A_ENST00000042381.4_Splice_Site_p.K35del|FAM65A_ENST00000540839.3_Splice_Site_p.K55del|FAM65A_ENST00000566522.1_Intron|FAM65A_ENST00000428437.2_Splice_Site_p.K49del|CTD-2012K14.2_ENST00000567122.1_RNA	NM_001193522.1|NM_024519.3	NP_001180451.1|NP_078795.2	Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	39						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CCTCTCCTTCAGGAGTTTCCCGG	0.66													-	67572575	AGG	-	67572573	7	5	592	1	0	1	0	1	0	0	0	0	5649	202	7	0	109	0	FAM65A	16	67572573	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	283204	67572573	22782180	457	49695											
CENPT	80152	broad.mit.edu	37	chr16	67863714	67863714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaagatgctcctggcccGtcagcctcagcagtcccctg	6	8	10	17	1	2	2	2	1	0	1	4	2	4	2	6	1	3	2	6	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:67863714G>A	ENST00000562787.1	-	12	1688	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	CENPT_ENST00000564817.1_Intron|CENPT_ENST00000440851.2_Silent_p.D380D|CENPT_ENST00000219172.3_Silent_p.D380D	NM_025082.3	NP_079358.3	Q96BT3	CENPT_HUMAN	centromere protein T	380					mitotic prometaphase	condensed chromosome kinetochore|cytosol|nucleus	DNA binding			NS(1)|breast(2)|lung(6)|urinary_tract(1)	10		Acute lymphoblastic leukemia(13;0.000299)|all_hematologic(13;0.0184)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00429)|Epithelial(162;0.019)|all cancers(182;0.124)		CTCCTGGCCCGTCAGCCTCAG	0.612													A	67863714	G	A	67863714	2	1	592	1	0	0	0	0	0	0	0	1	3272	1136	40	1		1	CENPT	16	67863714	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	291141	67863714	22491039	458	49696											
DDX19A	55308	broad.mit.edu	37	chr16	70400563	70400563	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagatgctgcttttctcCgccacctttgaagactctgt	6	14	8	13	1	2	3	0	1	2	2	3	3	2	3	4	0	3	2	4	0	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:70400563C>T	ENST00000302243.7	+	9	982	c.819C>T	c.(817-819)tcC>tcT	p.S273S	DDX19A_ENST00000417604.2_Silent_p.S242S|DDX19A_ENST00000443119.2_Silent_p.S183S	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				TGCTTTTCTCCGCCACCTTTG	0.562													T	70400563	C	T	70400563	2	4	592	1	0	0	0	0	0	0	0	1	4380	639	23	1		1	DDX19A	16	70400563	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2536849	70400563	19954190	459	49697											
MARVELD3	91862	broad.mit.edu	37	chr16	71674814	71674814	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctcgtgatcatgtacggcGccagcgtggtgctggccctg	4	11	14	12	4	2	1	1	1	1	0	3	1	2	1	2	3	3	2	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:71674814G>A	ENST00000299952.4	+	3	1160	c.1117G>A	c.(1117-1119)Gcc>Acc	p.A373T	PHLPP2_ENST00000540628.1_3'UTR|MARVELD3_ENST00000561682.1_Intron|MARVELD3_ENST00000565261.1_3'UTR	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	376	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CATGTACGGCGCCAGCGTGGT	0.597													A	71674814	G	A	71674814	3	1	592	1	0	0	0	0	1	0	0	0	9394	1087	38	1	1742	1	MARVELD3	16	71674814	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1274251	71674814	18679939	460	49698											
DHX38	9785	broad.mit.edu	37	chr16	72130788	72130788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagcgaagagttttgggaaCgcagtcggcagagagagcgg	11	6	18	6	4	0	4	0	1	0	3	1	7	0	5	0	3	3	3	0	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72130788C>T	ENST00000268482.3	+	3	900	c.391C>T	c.(391-393)Cgc>Tgc	p.R131C	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	131					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				GTTTTGGGAACGCAGTCGGCA	0.547													T	72130788	C	T	72130788	3	4	592	1	0	0	0	0	1	0	0	0	4550	536	19	1	397	1	DHX38	16	72130788	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	455974	72130788	18223965	461	49699											
DHX38	9785	broad.mit.edu	37	chr16	72133711	72133711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctactcctccgaggactaCgtgaggaggcgggagcagca	9	5	15	12	3	0	1	0	1	0	0	2	5	2	4	3	4	4	2	3	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:72133711C>T	ENST00000268482.3	+	8	1550	c.1041C>T	c.(1039-1041)taC>taT	p.Y347Y	DHX38_ENST00000536867.1_Intron	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	347					mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|nucleoplasm	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CCGAGGACTACGTGAGGAGGC	0.577											OREG0023926	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	72133711	C	T	72133711	2	4	592	1	0	0	0	0	0	0	0	1	4550	547	19	1		1	DHX38	16	72133711	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2923	72133711	18221042	462	49700											
ATMIN	23300	broad.mit.edu	37	chr16	81076800	81076801	+	Frame_Shift_Del	DEL	TG	TG	-																															agaaaaggaaaatggaaaacTgtgcacaaaaccagaagtta																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:81076800_81076801delTG	ENST00000566488.1	+	3	1192_1193	c.229_230delTG	c.(229-231)tgtfs	p.C77fs	ATMIN_ENST00000564241.1_Frame_Shift_Del_p.C77fs|ATMIN_ENST00000539819.1_3'UTR|ATMIN_ENST00000299575.4_Frame_Shift_Del_p.C233fs			O43313	ATMIN_HUMAN	ATM interactor	233					response to DNA damage stimulus	nucleus	zinc ion binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						AATGGAAAACTGTGCACAAAAC	0.376													-	81076801	TG	-	81076800	7	5	592	1	0	1	0	1	0	0	0	0	1115	1580	55	0	711	0	ATMIN	16	81076800	Frame_Shift_Del	DEL	TG	TCGA-HT-8564-01A-11D-2395-08	8943089	81076800	9277953	463	49701											
CDT1	81620	broad.mit.edu	37	chr16	88873762	88873762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagcagcggctgcagcGcttagaacggctgcctgagc	8	5	16	12	3	0	2	0	1	0	1	0	3	0	3	1	3	7	6	1	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88873762G>A	ENST00000301019.4	+	9	1968	c.1349G>A	c.(1348-1350)cGc>cAc	p.R450H		NM_030928.3	NP_112190.2	Q9H211	CDT1_HUMAN	chromatin licensing and DNA replication factor 1	450					DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|regulation of DNA-dependent DNA replication initiation|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		CGGCTGCAGCGCTTAGAACGG	0.657													A	88873762	G	A	88873762	3	1	592	1	0	0	0	0	1	0	0	0	3210	1087	38	1	1383	1	CDT1	16	88873762	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7796962	88873762	1480991	464	49702											
CBFA2T3	863	broad.mit.edu	37	chr16	88958664	88958664	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caactcaccaccaggcccagCaccagtgtgcgcacgcgctc	9	4	9	19	3	1	0	1	0	0	0	2	0	1	0	4	1	3	3	4	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:88958664C>T	ENST00000268679.4	-	4	1005	c.609G>A	c.(607-609)gtG>gtA	p.V203V	CBFA2T3_ENST00000360302.2_Silent_p.V117V|CBFA2T3_ENST00000448839.1_Silent_p.V127V|CBFA2T3_ENST00000327483.5_Silent_p.V117V|CBFA2T3_ENST00000436887.2_Silent_p.V178V	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	203	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus (By similarity).|TAFH.				cell proliferation|granulocyte differentiation	Golgi membrane|nucleolus|nucleoplasm	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.V203V(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		CCAGGCCCAGCACCAGTGTGC	0.627			T	RUNX1	AML								T	88958664	C	T	88958664	2	4	592	1	0	0	0	0	0	0	0	1	2724	697	25	2		2	CBFA2T3	16	88958664	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	84902	88958664	1396089	465	49703											
CDH15	1013	broad.mit.edu	37	chr16	89256813	89256813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttccaggagaacccacttCggaccagcctagcagagggg	10	6	13	12	1	0	2	0	0	0	2	2	4	1	3	4	4	3	2	4	4	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89256813C>T	ENST00000289746.2	+	8	1206	c.1141C>T	c.(1141-1143)Cgg>Tgg	p.R381W		NM_004933.2	NP_004924.1	P55291	CAD15_HUMAN	cadherin 15, type 1, M-cadherin (myotubule)	381	Cadherin 4.				adherens junction organization|cell junction assembly|homophilic cell adhesion|muscle cell differentiation|positive regulation of muscle cell differentiation	integral to membrane|plasma membrane	calcium ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(80;0.0261)		GAACCCACTTCGGACCAGCCT	0.687													T	89256813	C	T	89256813	3	4	592	1	0	0	0	0	1	0	0	0	3130	875	31	1	1171	1	CDH15	16	89256813	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	298149	89256813	1097940	466	49704											
ANKRD11	29123	broad.mit.edu	37	chr16	89347172	89347172	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccaggtagctgggctcCggggggatgatggcggccgt	4	7	20	10	3	0	1	0	1	0	0	2	2	2	2	3	8	1	4	3	8	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89347172C>T	ENST00000301030.4	-	9	6238	c.5778G>A	c.(5776-5778)ccG>ccA	p.P1926P	ANKRD11_ENST00000378330.2_Silent_p.P1926P	NM_001256183.1|NM_013275.5	NP_001243112.1|NP_037407.4	Q6UB99	ANR11_HUMAN	ankyrin repeat domain 11	1926	Pro-rich.					nucleus				breast(4)|central_nervous_system(3)|endometrium(17)|kidney(2)|large_intestine(18)|lung(20)|ovary(6)|pancreas(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	83		all_hematologic(23;0.00824)|Colorectal(91;0.0475)		Epithelial(1;5.33e-11)|all cancers(4;2.6e-09)|OV - Ovarian serous cystadenocarcinoma(4;2.29e-07)|BRCA - Breast invasive adenocarcinoma(80;0.0142)		AGCTGGGCTCCGGGGGGATGA	0.711													T	89347172	C	T	89347172	2	4	592	1	0	0	0	0	0	0	0	1	639	639	23	1		1	ANKRD11	16	89347172	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	90359	89347172	1007581	467	49705											
SPG7	6687	broad.mit.edu	37	chr16	89614459	89614459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctgcgctgcacgcggcgcGggagggacacacttccgtgc	5	5	17	14	6	0	0	0	0	0	0	1	2	1	2	1	4	3	3	1	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr16:89614459G>A	ENST00000268704.2	+	12	1616	c.1601G>A	c.(1600-1602)cGg>cAg	p.R534Q		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	534					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		CACGCGGCGCGGGAGGGACAC	0.642													A	89614459	G	A	89614459	3	1	592	1	0	0	0	0	1	0	0	0	15140	1116	39	1	1797	1	SPG7	16	89614459	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	267287	89614459	740294	468	49706											
SGSM2	9905	broad.mit.edu	37	chr17	2265510	2265510	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgtatgggtacgcacggCgctcatcgagaaagttctgg	10	8	13	10	5	2	1	1	0	1	1	3	2	2	1	0	3	1	5	0	3	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2265510C>T	ENST00000268989.3	+	4	581	c.404C>T	c.(403-405)gCg>gTg	p.A135V	SGSM2_ENST00000426855.2_Missense_Mutation_p.A135V|SGSM2_ENST00000574563.1_Missense_Mutation_p.A135V	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	135	RUN.					intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		GTACGCACGGCGCTCATCGAG	0.637													T	2265510	C	T	2265510	3	4	592	1	0	0	0	0	1	0	0	0	14316	768	27	1	418	1	SGSM2	17	2265510	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		2265510	78929700	469	49707											
OR1D2	4991	broad.mit.edu	37	chr17	2995776	2995776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagatgtagtggatttttCgtgacccacagaaggtcact	12	11	11	7	1	1	4	1	1	0	3	2	5	1	5	1	2	0	1	1	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:2995776C>T	ENST00000331459.1	-	1	514	c.515G>A	c.(514-516)cGa>cAa	p.R172Q		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	172					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GTGGATTTTTCGTGACCCACA	0.468													T	2995776	C	T	2995776	3	4	592	1	0	0	0	0	1	0	0	0	11029	884	31	1	426	1	OR1D2	17	2995776	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	730266	2995776	78199434	470	49708											
ZZEF1	23140	broad.mit.edu	37	chr17	3999984	3999984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctggtttttccagtttcCgtaagaaaacctgaaaaaag	13	12	8	8	1	1	2	0	1	1	1	3	2	3	2	3	1	1	4	3	1	6	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:3999984C>T	ENST00000381638.2	-	10	1807	c.1683G>A	c.(1681-1683)acG>acA	p.T561T	ZZEF1_ENST00000574474.1_5'UTR	NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	561							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						TTCCAGTTTCCGTAAGAAAAC	0.368													T	3999984	C	T	3999984	2	4	592	1	0	0	0	0	0	0	0	1	18352	639	23	1		1	ZZEF1	17	3999984	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1004208	3999984	77195226	471	49709											
GGT6	124975	broad.mit.edu	37	chr17	4461802	4461802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtcagggatgggcgccccGgagcgcagggctgcctccaa	6	4	18	13	3	1	0	1	0	0	0	2	2	2	2	4	5	2	2	4	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4461802G>A	ENST00000301395.3	-	3	953	c.894C>T	c.(892-894)tcC>tcT	p.S298S	GGT6_ENST00000574154.1_Silent_p.S330S|GGT6_ENST00000381550.3_Silent_p.S336S|GGT6_ENST00000573591.1_Silent_p.S182S	NM_153338.2	NP_699169.2	Q6P531	GGT6_HUMAN	gamma-glutamyltransferase 6	330					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			endometrium(2)|large_intestine(1)|lung(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						TGGGCGCCCCGGAGCGCAGGG	0.692													A	4461802	G	A	4461802	2	1	592	1	0	0	0	0	0	0	0	1	6419	1103	39	1		1	GGT6	17	4461802	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	461818	4461802	76733408	472	49710											
CHRNE	1145	broad.mit.edu	37	chr17	4804399	4804399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatgagcgagtagatgaCgtcagtctcccctgggccgt	8	9	14	10	3	2	4	1	3	1	1	3	6	2	4	3	1	1	1	3	1	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:4804399C>T	ENST00000293780.4	-	7	698	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	C17orf107_ENST00000381365.3_3'UTR|CHRNE_ENST00000575637.1_5'UTR	NM_000080.3	NP_000071.1	Q04844	ACHE_HUMAN	cholinergic receptor, nicotinic, epsilon (muscle)	230					muscle contraction|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity	p.V230F(1)		central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(3)|prostate(1)	12						GAGTAGATGACGTCAGTCTCC	0.652													T	4804399	C	T	4804399	3	4	592	1	0	0	0	0	1	0	0	0	3425	536	19	1	817	1	CHRNE	17	4804399	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	342597	4804399	76390811	473	49711											
GPS2	2874	broad.mit.edu	37	chr17	7216932	7216935	+	Frame_Shift_Del	DEL	AGTG	AGTG	-																															agctggctgtgtgggcccatAgtgaggtgggggctgagcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7216932_7216935delAGTG	ENST00000380728.2	-	7	886_889	c.586_589delCACT	c.(586-591)cactatfs	p.HY196fs	GPS2_ENST00000391950.3_Frame_Shift_Del_p.HY196fs|GPS2_ENST00000389167.5_Frame_Shift_Del_p.HY196fs|RP11-542C16.2_ENST00000575474.1_3'UTR			Q13227	GPS2_HUMAN	G protein pathway suppressor 2	196					cell cycle|inactivation of MAPK activity|JNK cascade|negative regulation of JNK cascade|negative regulation of transcription from RNA polymerase II promoter	transcriptional repressor complex	GTPase inhibitor activity|protein binding|transcription corepressor activity			breast(1)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(4)	24		Prostate(122;0.157)				GTGGGCCCATAGTGAGGTGGGGGC	0.574											OREG0024133	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	7216935	AGTG	-	7216932	7	5	592	1	0	1	0	1	0	0	0	0	6788	420	15	0	414	0	GPS2	17	7216932	Frame_Shift_Del	DEL	AGTG	TCGA-HT-8564-01A-11D-2395-08	2412533	7216932	73978278	474	49712											
TP53	7157	broad.mit.edu	37	chr17	7577138	7577138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacctcaaagctgttcCgtcccagtagattaccacta	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	2	4	4	0	4	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7577138C>T	ENST00000420246.2	-	8	932	c.800G>A	c.(799-801)cGg>cAg	p.R267Q	TP53_ENST00000455263.2_Missense_Mutation_p.R267Q|TP53_ENST00000359597.4_Missense_Mutation_p.R267Q|TP53_ENST00000269305.4_Missense_Mutation_p.R267Q|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R267Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267P(17)|p.R267Q(10)|p.0?(8)|p.R267L(6)|p.N268fs*77(3)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAAGCTGTTCCGTCCCAGTAG	0.527		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)			T	7577138	C	T	7577138	3	4	592	1	0	0	0	0	1	0	0	0	16482	652	23	1	486	1	TP53	17	7577138	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	360206	7577138	73618072	475	49713											
TP53	7157	broad.mit.edu	37	chr17	7578463	7578463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggccatggcgcggacgCgggtgccgggcgggggtgtg	4	5	23	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	0	2	7	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7578463C>T	ENST00000420246.2	-	5	599	c.467G>A	c.(466-468)cGc>cAc	p.R156H	TP53_ENST00000455263.2_Missense_Mutation_p.R156H|TP53_ENST00000359597.4_Missense_Mutation_p.R156H|TP53_ENST00000269305.4_Missense_Mutation_p.R156H|TP53_ENST00000413465.2_Missense_Mutation_p.R156H|TP53_ENST00000445888.2_Missense_Mutation_p.R156H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	156	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (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.R156P(24)|p.R156H(10)|p.0?(8)|p.?(5)|p.R156L(3)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.P153fs*22(2)|p.T155_R156delTR(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156del(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*14(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R156_V157del(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*25(1)|p.G154_R156delGTR(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)		GGCGCGGACGCGGGTGCCGGG	0.612		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)			T	7578463	C	T	7578463	3	4	592	1	0	0	0	0	1	0	0	0	16482	768	27	1	831	1	TP53	17	7578463	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1325	7578463	73616747	476	49714											
KCNAB3	9196	broad.mit.edu	37	chr17	7829255	7829255	+	Frame_Shift_Del	DEL	C	C	-																															gggcagccacttactgtcctCcccaaaaaatcttggtagtg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:7829255delC	ENST00000303790.2	-	6	487	c.488delG	c.(487-489)ggafs	p.G164fs	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	164						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				TTACTGTCCTCCCCAAAAAAT	0.498													-	7829255	C	-	7829255	7	5	592	1	0	1	0	1	0	0	0	0	8069	855	30	0	762	0	KCNAB3	17	7829255	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	250792	7829255	73365955	477	49715											
PFAS	5198	broad.mit.edu	37	chr17	8167651	8167651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgggcaagatgcctcGgaaggtatgtggggttgagg	7	9	20	5	1	0	2	0	1	0	1	1	3	0	3	1	7	2	4	1	7	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:8167651G>A	ENST00000314666.6	+	16	2046	c.1913G>A	c.(1912-1914)cGg>cAg	p.R638Q	PFAS_ENST00000545834.1_Missense_Mutation_p.R214Q	NM_012393.2	NP_036525.1	O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase	638					'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AAGATGCCTCGGAAGGTATGT	0.622													A	8167651	G	A	8167651	3	1	592	1	0	0	0	0	1	0	0	0	11831	1116	39	1	1971	1	PFAS	17	8167651	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338396	8167651	73027559	478	49716											
MYH8	4626	broad.mit.edu	37	chr17	10299869	10299869	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggactgtgaggactcaCgttgcaagttcttattttct	8	14	12	7	1	3	1	1	1	2	0	3	4	3	4	0	3	1	3	0	3	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:10299869C>T	ENST00000403437.2	-	32	4623		c.e32+1		CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal						muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGAGGACTCACGTTGCAAGTT	0.463									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				T	10299869	C	T	10299869	5	4	592	1	0	0	0	0	0	0	1	0	10117	550	19	1	1320	1	MYH8	17	10299869	Splice_Site	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2132218	10299869	70895341	479	49717											
DNAH9	1770	broad.mit.edu	37	chr17	11660881	11660881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggatcttgtacatcaacccGgcagacttgggatggaaccc	10	8	12	11	1	2	1	1	0	1	1	2	4	2	4	2	4	3	2	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11660881G>A	ENST00000262442.4	+	35	6935	c.6867G>A	c.(6865-6867)ccG>ccA	p.P2289P	DNAH9_ENST00000454412.2_Silent_p.P2289P	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 2 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACATCAACCCGGCAGACTTGG	0.428													A	11660881	G	A	11660881	2	1	592	1	0	0	0	0	0	0	0	1	4647	1103	39	1		1	DNAH9	17	11660881	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1361012	11660881	69534329	480	49718											
DNAH9	1770	broad.mit.edu	37	chr17	11711063	11711063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttagctgccatatcaatcGcatcttggagtccccgcggg	7	11	10	13	3	2	0	1	0	1	0	4	1	3	1	3	2	2	2	3	2	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:11711063G>A	ENST00000262442.4	+	44	8503	c.8435G>A	c.(8434-8436)cGc>cAc	p.R2812H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R2812H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 4 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CATATCAATCGCATCTTGGAG	0.532													A	11711063	G	A	11711063	3	1	592	1	0	0	0	0	1	0	0	0	4647	1087	38	1	8609	1	DNAH9	17	11711063	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	50182	11711063	69484147	481	49719											
TRPV2	51393	broad.mit.edu	37	chr17	16336966	16336966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaggtgtgatgctgaccGttggcactaagccagatggc	8	8	16	9	1	0	3	0	2	0	1	0	3	0	3	2	4	2	4	2	4	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:16336966G>A	ENST00000338560.7	+	13	2467	c.2068G>A	c.(2068-2070)Gtt>Att	p.V690I	TRPV2_ENST00000577397.1_Missense_Mutation_p.V260I	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	690					sensory perception	integral to plasma membrane|melanosome	calcium channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GATGCTGACCGTTGGCACTAA	0.592													A	16336966	G	A	16336966	3	1	592	1	0	0	0	0	1	0	0	0	16697	1145	40	1	2114	1	TRPV2	17	16336966	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4625903	16336966	64858244	482	49720											
ALDH3A1	218	broad.mit.edu	37	chr17	19641649	19641649	+	Frame_Shift_Del	DEL	G	G	-																															ctctcaccttggccgggctcGgggggtatctgaccttcagg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:19641649delG	ENST00000457500.2	-	9	1663	c.1334delC	c.(1333-1335)ccgfs	p.P445fs	ALDH3A1_ENST00000494157.2_Frame_Shift_Del_p.P372fs|ALDH3A1_ENST00000444455.1_Frame_Shift_Del_p.P445fs|ALDH3A1_ENST00000225740.6_Frame_Shift_Del_p.P445fs|RP11-311F12.2_ENST00000580884.1_RNA|ALDH3A1_ENST00000395555.3_Frame_Shift_Del_p.P381fs	NM_001135168.1	NP_001128640.1	P30838	AL3A1_HUMAN	aldehyde dehydrogenase 3 family, member A1	445					cellular aldehyde metabolic process	cytosol|endoplasmic reticulum	alcohol dehydrogenase (NADP+) activity|aldehyde dehydrogenase|aldehyde dehydrogenase (NAD) activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|urinary_tract(1)	13	all_cancers(12;4.01e-05)|all_epithelial(12;0.00301)|Breast(13;0.186)			Colorectal(15;0.0829)	NADH(DB00157)	GGCCGGGCTCGGGGGGTATCT	0.627													-	19641649	G	-	19641649	7	5	592	1	0	1	0	1	0	0	0	0	497	1116	39	0	35	0	ALDH3A1	17	19641649	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	3304683	19641649	61553561	483	49721											
KCNJ12	3768	broad.mit.edu	37	chr17	21319341	21319341	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtggaggcccatgtgcgCgcgcagctcatcaagccgcg	7	7	14	13	5	2	0	2	0	0	0	2	1	2	1	2	2	3	2	2	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:21319341C>T	ENST00000583088.1	+	3	1582	c.687C>T	c.(685-687)cgC>cgT	p.R229R	KCNJ12_ENST00000331718.5_Silent_p.R229R	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12									p.R229R(2)		NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CCCATGTGCGCGCGCAGCTCA	0.642										Prostate(3;0.18)			T	21319341	C	T	21319341	2	4	592	1	0	0	0	0	0	0	0	1	8104	755	27	1		1	KCNJ12	17	21319341	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1677692	21319341	59875869	484	49722											
NEK8	284086	broad.mit.edu	37	chr17	27065189	27065189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccccagttcatctcgcGtttcctggagggccagtcgg	6	9	12	14	3	2	0	1	0	1	0	5	1	3	1	4	3	1	2	4	3	0	2	rs138066977		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:27065189G>A	ENST00000268766.6	+	8	1182	c.1148G>A	c.(1147-1149)cGt>cAt	p.R383H	AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	383						cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					TTCATCTCGCGTTTCCTGGAG	0.657													A	27065189	G	A	27065189	3	1	592	1	0	0	0	0	1	0	0	0	10406	1145	40	1	1178	1	NEK8	17	27065189	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	5745848	27065189	54130021	485	49723											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															agctcgagttctggttactcTgtttgattctcggcatttac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29562660	TGTT	-	29562657	7	5	592	1	0	1	0	1	0	0	0	0	10432	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-HT-8564-01A-11D-2395-08	2497468	29562657	51632553	486	49724											
FBXL20	84961	broad.mit.edu	37	chr17	37420470	37420471	+	Frame_Shift_Del	DEL	AT	AT	-																															cgtgtgatttgctggcagtcAtagagttctatccgctcaag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37420470_37420471delAT	ENST00000264658.6	-	14	1420_1421	c.1160_1161delAT	c.(1159-1161)tatfs	p.Y387fs	FBXL20_ENST00000394294.3_Frame_Shift_Del_p.Y355fs|FBXL20_ENST00000583610.1_Frame_Shift_Del_p.Y387fs|FBXL20_ENST00000577399.1_Frame_Shift_Del_p.Y389fs	NM_032875.2	NP_116264.2	Q96IG2	FXL20_HUMAN	F-box and leucine-rich repeat protein 20	387						cytoplasm				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22			LUAD - Lung adenocarcinoma(14;0.146)			GCTGGCAGTCATAGAGTTCTAT	0.48													-	37420471	AT	-	37420470	7	5	592	1	0	1	0	1	0	0	0	0	5766	224	8	0	157	0	FBXL20	17	37420470	Frame_Shift_Del	DEL	AT	TCGA-HT-8564-01A-11D-2395-08	7857813	37420470	43774740	487	49725											
ERBB2	2064	broad.mit.edu	37	chr17	37866098	37866098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgatgtgtaagggctccCgctgctggggagagagttct	6	10	15	10	2	1	1	0	0	1	1	3	4	3	2	2	3	1	5	2	3	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:37866098C>T	ENST00000406381.2	+	7	1027	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ERBB2_ENST00000584450.1_Missense_Mutation_p.R203C|ERBB2_ENST00000269571.5_Missense_Mutation_p.R203C|ERBB2_ENST00000578199.1_Missense_Mutation_p.R173C|ERBB2_ENST00000445658.2_Intron|ERBB2_ENST00000584601.1_Missense_Mutation_p.R173C|ERBB2_ENST00000540147.1_Missense_Mutation_p.R173C|ERBB2_ENST00000541774.1_Missense_Mutation_p.R188C|ERBB2_ENST00000540042.1_Missense_Mutation_p.R173C	NM_001005862.1	NP_001005862.1	P04626	ERBB2_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 2	203					cell proliferation|heart development|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of cell adhesion|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|protein autophosphorylation|regulation of angiogenesis|regulation of microtubule-based process|regulation of transcription, DNA-dependent|transcription, DNA-dependent|wound healing	integral to membrane|nucleus|perinuclear region of cytoplasm|receptor complex	ATP binding|DNA binding|epidermal growth factor receptor activity|ErbB-3 class receptor binding|identical protein binding|protein C-terminus binding|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(1)|breast(16)|central_nervous_system(17)|endometrium(6)|haematopoietic_and_lymphoid_tissue(8)|kidney(4)|large_intestine(16)|liver(3)|lung(125)|ovary(18)|pancreas(1)|prostate(4)|skin(1)|stomach(14)|upper_aerodigestive_tract(9)|urinary_tract(4)	247	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)	Ovarian(249;0.0547)|Colorectal(1115;0.234)	UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Epithelial(3;9.42e-64)|all cancers(3;5.61e-57)|BRCA - Breast invasive adenocarcinoma(8;2.5e-45)|STAD - Stomach adenocarcinoma(3;9.03e-13)|Colorectal(5;6.23e-08)|COAD - Colon adenocarcinoma(5;8.58e-06)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|OV - Ovarian serous cystadenocarcinoma(8;0.0917)|LUSC - Lung squamous cell carcinoma(15;0.171)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0767)	Lapatinib(DB01259)|Letrozole(DB01006)|Trastuzumab(DB00072)	TAAGGGCTCCCGCTGCTGGGG	0.597		1	"A, Mis, O"		"breast, ovarian, other tumour types, NSCLC, gastric"					TCGA GBM(5;<1E-08)			T	37866098	C	T	37866098	3	4	592	1	0	0	0	0	1	0	0	0	5247	652	23	1	625	1	ERBB2	17	37866098	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	445628	37866098	43329112	488	49726											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274307	39274307	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacatagactggcagcactgGggcttgcagcagctggacac	10	6	13	12	0	0	1	0	0	0	1	0	2	0	2	0	4	4	6	0	4	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:39274307G>T	ENST00000391413.2	-	1	299	c.261C>A	c.(259-261)ccC>ccA	p.P87P		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	87	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			GGCAGCACTGGGGCTTGCAGC	0.657													T	39274307	G	T	39274307	2	4	592	1	0	0	0	0	0	0	0	1	8608	1219	43	4		4	KRTAP4-11	17	39274307	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1408209	39274307	41920903	489	49727											
TUBG1	7283	broad.mit.edu	37	chr17	40766567	40766567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttggccaacttcatcccGtggggccccgccagcatcca	8	7	10	16	2	1	0	1	0	0	0	3	0	3	0	6	3	2	2	6	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40766567G>A	ENST00000251413.3	+	10	1112	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	350					G2/M transition of mitotic cell cycle|meiotic spindle organization|protein polymerization	condensed nuclear chromosome|cytosol|gamma-tubulin complex|polar microtubule	GTP binding|GTPase activity|protein binding|structural constituent of cytoskeleton			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)		ACTTCATCCCGTGGGGCCCCG	0.652													A	40766567	G	A	40766567	2	1	592	1	0	0	0	0	0	0	0	1	16866	1132	40	1		1	TUBG1	17	40766567	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1492260	40766567	40428643	490	49728											
PLEKHH3	79990	broad.mit.edu	37	chr17	40820242	40820244	+	In_Frame_Del	DEL	GGA	GGA	-																															tgtctggcaggtcttggcatGgaggagaagagctgctgcag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:40820242_40820244delGGA	ENST00000293349.6	-	13	2704_2706	c.2274_2276delTCC	c.(2272-2277)cctcca>cca	p.758_759PP>P	PLEKHH3_ENST00000591022.1_In_Frame_Del_p.761_762PP>P|PLEKHH3_ENST00000412503.1_In_Frame_Del_p.584_585PP>P|PLEKHH3_ENST00000456950.2_5'UTR			Q7Z736	PKHH3_HUMAN	pleckstrin homology domain containing, family H (with MyTH4 domain) member 3	761	Poly-Ser.				signal transduction	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|skin(2)	13		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.14)		GTCTTGGCATGGAGGAGAAGAGC	0.65													-	40820244	GGA	-	40820242	7	5	592	1	0	1	0	1	0	0	0	0	12155	1348	47	0	100	0	PLEKHH3	17	40820242	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	53675	40820242	40374968	491	49729											
FMNL1	752	broad.mit.edu	37	chr17	43314943	43314943	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgctggagctgctggcGgccgtgtgcttggtgcgggg	1	10	21	9	3	0	0	0	0	0	0	0	1	0	1	1	7	5	4	1	7	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:43314943G>T	ENST00000331495.3	+	9	1167	c.831G>T	c.(829-831)gcG>gcT	p.A277A	FMNL1_ENST00000592006.1_3'UTR|FMNL1_ENST00000328118.3_Silent_p.A277A	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	277	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						AGCTGCTGGCGGCCGTGTGCT	0.607													T	43314943	G	T	43314943	2	4	592	1	0	0	0	0	0	0	0	1	6000	1103	39	4		4	FMNL1	17	43314943	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2494701	43314943	37880267	492	49730											
ITGA3	3675	broad.mit.edu	37	chr17	48157736	48157736	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgtggaacagcaccttcatCgaggtcagtgcctgggtctg	7	10	14	10	1	3	0	2	0	1	0	4	2	3	1	2	3	3	1	2	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48157736C>T	ENST00000320031.8	+	22	3147	c.2817C>T	c.(2815-2817)atC>atT	p.I939I	ITGA3_ENST00000007722.7_Silent_p.I939I	NM_002204.2|NM_005501.2	NP_002195.1|NP_005492.1	P26006	ITA3_HUMAN	integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)	939					blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|leukocyte migration	cell surface|integrin complex	protein binding|receptor activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)	31						GCACCTTCATCGAGGTCAGTG	0.602													T	48157736	C	T	48157736	2	4	592	1	0	0	0	0	0	0	0	1	7935	874	31	1		1	ITGA3	17	48157736	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4842793	48157736	33037474	493	49731											
EPN3	55040	broad.mit.edu	37	chr17	48616601	48616601	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggccaatggtgcaggggcCgtggtccaccatcagcggga	8	6	16	11	2	1	0	1	0	0	0	2	1	2	1	4	6	2	1	4	6	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:48616601C>T	ENST00000268933.3	+	5	1395	c.816C>T	c.(814-816)gcC>gcT	p.A272A	EPN3_ENST00000537145.1_Silent_p.A300A|EPN3_ENST00000541226.1_Silent_p.A189A	NM_017957.2	NP_060427.2	Q9H201	EPN3_HUMAN	epsin 3	272						clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			GTGCAGGGGCCGTGGTCCACC	0.607													T	48616601	C	T	48616601	2	4	592	1	0	0	0	0	0	0	0	1	5228	639	23	1		1	EPN3	17	48616601	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	458865	48616601	32578609	494	49732											
USP32	84669	broad.mit.edu	37	chr17	58259033	58259033	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cctttgctcctccccaaagtCcgtgggctgctattagggct	5	12	10	14	1	0	0	0	0	0	0	3	0	3	0	5	2	2	4	5	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:58259033C>T	ENST00000300896.4	-	32	4394	c.4200G>A	c.(4198-4200)cgG>cgA	p.R1400R	USP32_ENST00000592339.1_Silent_p.R1070R	NM_032582.3	NP_115971.2	Q8NFA0	UBP32_HUMAN	ubiquitin specific peptidase 32	1400					protein deubiquitination|ubiquitin-dependent protein catabolic process	Golgi apparatus|membrane	calcium ion binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(5)|endometrium(5)|kidney(4)|large_intestine(12)|liver(1)|lung(24)|pancreas(1)|prostate(3)|skin(3)|urinary_tract(1)	62	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;2.02e-11)|all cancers(12;5.23e-10)|Colorectal(3;0.198)			TCCCCAAAGTCCGTGGGCTGC	0.483													T	58259033	C	T	58259033	2	4	592	1	0	0	0	0	0	0	0	1	17165	842	30	2		2	USP32	17	58259033	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	9642432	58259033	22936177	495	49733											
ERN1	2081	broad.mit.edu	37	chr17	62144066	62144066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctctgtctccttggggaaCgggtacttccactttgtgat	5	14	11	11	1	2	1	0	1	2	0	4	2	3	2	3	3	2	1	3	3	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:62144066C>T	ENST00000433197.3	-	8	902	c.807G>A	c.(805-807)ccG>ccA	p.P269P		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1						activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						CCTTGGGGAACGGGTACTTCC	0.592													T	62144066	C	T	62144066	2	4	592	1	0	0	0	0	0	0	0	1	5278	523	19	1		1	ERN1	17	62144066	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	3885033	62144066	19051144	496	49734											
BTBD17	388419	broad.mit.edu	37	chr17	72353024	72353024	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagctcacgcccgccgcGtcgccgccgctgctggccgg	3	5	15	18	8	1	0	1	0	0	0	2	1	1	1	5	3	2	3	5	3	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353024G>A	ENST00000375366.3	-	3	1335	c.1209C>T	c.(1207-1209)gaC>gaT	p.D403D		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	403						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						CGCCCGCCGCGTCGCCGCCGC	0.771													A	72353024	G	A	72353024	2	1	592	1	0	0	0	0	0	0	0	1	1551	1136	40	1		1	BTBD17	17	72353024	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	10208958	72353024	8842186	497	49735											
BTBD17	388419	broad.mit.edu	37	chr17	72353354	72353354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgcagcggcgacgcggcGtggaactggtaggcctgcag	7	6	18	10	5	0	0	0	0	0	0	0	2	0	1	1	5	4	3	1	5	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:72353354G>A	ENST00000375366.3	-	3	1005	c.879C>T	c.(877-879)caC>caT	p.H293H		NM_001080466.1	NP_001073935.1	A6NE02	BTBDH_HUMAN	BTB (POZ) domain containing 17	293						extracellular region				endometrium(1)|kidney(1)|lung(4)	6						GCGACGCGGCGTGGAACTGGT	0.731													A	72353354	G	A	72353354	2	1	592	1	0	0	0	0	0	0	0	1	1551	1136	40	1		1	BTBD17	17	72353354	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	330	72353354	8841856	498	49736											
QRICH2	84074	broad.mit.edu	37	chr17	74289330	74289330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgatattacacatccaCgctgatccatgccaagtggt	10	11	8	12	1	0	2	0	2	0	0	2	2	2	2	4	1	3	1	4	1	3	2	rs151086130	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74289330C>T	ENST00000262765.5	-	4	1159	c.980G>A	c.(979-981)cGt>cAt	p.R327H		NM_032134.1	NP_115510.1	Q9H0J4	QRIC2_HUMAN	glutamine rich 2	327							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(17)|ovary(4)|pancreas(2)|prostate(3)|skin(2)|stomach(4)	62						TACACATCCACGCTGATCCAT	0.498													T	74289330	C	T	74289330	3	4	592	1	0	0	0	0	1	0	0	0	12968	536	19	1	4075	1	QRICH2	17	74289330	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1935976	74289330	6905880	499	49737											
MGAT5B	146664	broad.mit.edu	37	chr17	74878237	74878237	+	Frame_Shift_Del	DEL	G	G	-																															cacactctgcccacagtgatGgggggccccgagtcccgcgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:74878237delG	ENST00000569840.2	+	3	760	c.186delG	c.(184-186)atgfs	p.M62fs	MGAT5B_ENST00000301618.4_Frame_Shift_Del_p.M62fs|MGAT5B_ENST00000374998.3_3'UTR|MGAT5B_ENST00000428789.2_Frame_Shift_Del_p.M73fs|MGAT5B_ENST00000565675.1_Frame_Shift_Del_p.M62fs	NM_001199172.1	NP_001186101.1	Q3V5L5	MGT5B_HUMAN	mannosyl (alpha-1,6-)-glycoprotein beta-1,6-N-acetyl-glucosaminyltransferase, isozyme B	62						Golgi membrane|integral to membrane	alpha-1,6-mannosyl-glycoprotein 6-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(15)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CCACAGTGATGGGGGGCCCCG	0.662													-	74878237	G	-	74878237	7	5	592	1	0	1	0	1	0	0	0	0	9624	1348	47	0	297	0	MGAT5B	17	74878237	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	588907	74878237	6316973	500	49738											
DNAH17	8632	broad.mit.edu	37	chr17	76558007	76558007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgactgaatacctgggcGccacctcggcaagaatcagg	11	6	12	12	2	1	3	1	2	0	1	2	3	1	3	3	3	1	2	3	3	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:76558007G>A	ENST00000389840.5	-	12	1749	c.1625C>T	c.(1624-1626)gCg>gTg	p.A542V	DNAH17_ENST00000585328.1_Missense_Mutation_p.A542V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ATACCTGGGCGCCACCTCGGC	0.587													A	76558007	G	A	76558007	3	1	592	1	0	0	0	0	1	0	0	0	4640	1087	38	1	12043	1	DNAH17	17	76558007	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1679770	76558007	4637203	501	49739											
SLC38A10	124565	broad.mit.edu	37	chr17	79256073	79256073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgttccgctgcaggctgagCgggagcacgatgcacagcga	9	6	15	11	4	0	1	0	1	0	0	1	4	1	2	1	2	5	6	1	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79256073C>T	ENST00000374759.3	-	5	800	c.417G>A	c.(415-417)ccG>ccA	p.P139P	SLC38A10_ENST00000288439.5_Silent_p.P139P	NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	139					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			GCAGGCTGAGCGGGAGCACGA	0.662													T	79256073	C	T	79256073	2	4	592	1	0	0	0	0	0	0	0	1	14696	755	27	1		1	SLC38A10	17	79256073	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2698066	79256073	1939137	502	49740											
HGS	9146	broad.mit.edu	37	chr17	79660715	79660717	+	In_Frame_Del	DEL	AGG	AGG	-																															gagggacgagacggccctgcAggaggaggaggagctgcagc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr17:79660715_79660717delAGG	ENST00000329138.4	+	10	908_910	c.773_775delAGG	c.(772-777)caggag>cag	p.E262del		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	262	Interaction with SNX1 (By similarity).				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			ACGGCCCTGCAGGAGGAGGAGGA	0.729													-	79660717	AGG	-	79660715	7	5	592	1	0	1	0	1	0	0	0	0	7142	188	7	0	811	0	HGS	17	79660715	In_Frame_Del	DEL	AGG	TCGA-HT-8564-01A-11D-2395-08	404642	79660715	1534495	503	49741											
EPB41L3	23136	broad.mit.edu	37	chr18	5423406	5423406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgcgagacatggtataaCgtttgctggatgagcgttca	10	11	13	7	3	1	2	1	1	0	1	1	4	1	3	0	2	5	5	0	2	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:5423406C>T	ENST00000341928.2	-	11	1650	c.1310G>A	c.(1309-1311)cGt>cAt	p.R437H	EPB41L3_ENST00000540638.2_Missense_Mutation_p.R437H|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000544123.1_Missense_Mutation_p.R437H|EPB41L3_ENST00000342933.3_Missense_Mutation_p.R437H|EPB41L3_ENST00000400111.3_Missense_Mutation_p.R437H	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	437	Hydrophilic.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						CATGGTATAACGTTTGCTGGA	0.478													T	5423406	C	T	5423406	3	4	592	1	0	0	0	0	1	0	0	0	5195	536	19	1	2001	1	EPB41L3	18	5423406	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		5423406	72653842	504	49742											
NPC1	4864	broad.mit.edu	37	chr18	21114452	21114452	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctcttccgcgcgctccacGcggctgcctttcatgctcac	3	10	9	19	5	3	0	2	0	1	0	5	0	5	0	4	1	2	3	4	1	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:21114452G>A	ENST00000269228.5	-	23	4103	c.3549C>T	c.(3547-3549)cgC>cgT	p.R1183R	NPC1_ENST00000412552.2_Silent_p.R865R	NM_000271.4	NP_000262.2	O15118	NPC1_HUMAN	Niemann-Pick disease, type C1	1183					autophagy|bile acid metabolic process|cholesterol efflux|cholesterol homeostasis|lysosomal transport	endoplasmic reticulum|integral to plasma membrane|late endosome membrane|lysosomal membrane|nuclear envelope|perinuclear region of cytoplasm	hedgehog receptor activity|protein binding|sterol transporter activity			breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(10)|lung(13)|ovary(2)|stomach(1)	38	all_cancers(21;0.000106)|all_epithelial(16;6.57e-07)|Lung NSC(20;0.00166)|all_lung(20;0.00536)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGCGCTCCACGCGGCTGCCTT	0.587													A	21114452	G	A	21114452	2	1	592	1	0	0	0	0	0	0	0	1	10646	1074	38	1		1	NPC1	18	21114452	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	15691046	21114452	56962796	505	49743											
RNF125	54941	broad.mit.edu	37	chr18	29648291	29648291	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattgaggaagctcttatcCgaagagtcttagaccggtca	12	11	10	8	2	3	3	1	1	2	2	4	5	4	4	2	2	1	1	2	2	5	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:29648291C>T	ENST00000217740.3	+	6	1135	c.643C>T	c.(643-645)Cga>Tga	p.R215*	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	215					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						AGCTCTTATCCGAAGAGTCTT	0.338													T	29648291	C	T	29648291	4	4	592	1	0	0	0	0	0	1	0	0	13525	644	23	1	665	1	RNF125	18	29648291	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8533839	29648291	48428957	506	49744											
SERPINB11	89778	broad.mit.edu	37	chr18	61388269	61388270	+	RNA	INS	-	-	AC																															taaagcatgtgtgcatgttaINSacacacacacacacagacac																								rs147551453	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:61388269_61388270insAC	ENST00000544088.1	+	0	836				SERPINB11_ENST00000536691.1_RNA|SERPINB11_ENST00000382749.5_RNA|SERPINB11_ENST00000538847.1_RNA	NM_080475.2	NP_536723.2	Q96P15	SPB11_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 11 (gene/pseudogene)						regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			breast(1)|cervix(1)|kidney(1)|lung(3)	6		Esophageal squamous(42;0.129)				TGTGCATGTTAACACACACACA	0.386													AC	61388270	-	AC	61388269	6	5	592	0	1	1	1	0	0	0	0	0	14191	377	13	0		0	SERPINB11	18	61388269	RNA	INS	-	TCGA-HT-8564-01A-11D-2395-08	31739978	61388269	16688979	507	49745											
ZNF516	9658	broad.mit.edu	37	chr18	74153957	74153957	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtggatggcattgtgggCgttcaagctgtccaggtttg	5	12	17	7	2	1	0	1	0	0	0	2	1	2	1	1	5	1	4	1	5	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:74153957C>T	ENST00000443185.2	-	3	1371	c.1054G>A	c.(1054-1056)Gcc>Acc	p.A352T	ZNF516_ENST00000524431.2_5'UTR	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		GCATTGTGGGCGTTCAAGCTG	0.657													T	74153957	C	T	74153957	3	4	592	1	0	0	0	0	1	0	0	0	18061	768	27	1	2458	1	ZNF516	18	74153957	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12765688	74153957	3923291	508	49746											
ADNP2	22850	broad.mit.edu	37	chr18	77896426	77896426	+	Frame_Shift_Del	DEL	A	A	-																															agattttagcattagatcctAaaaaatatgaaggccgttct																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr18:77896426delA	ENST00000262198.4	+	4	3585	c.3130delA	c.(3130-3132)aaafs	p.K1045fs		NM_014913.3	NP_055728.1	Q6IQ32	ADNP2_HUMAN	ADNP homeobox 2	1045					cellular response to oxidative stress|cellular response to retinoic acid|negative regulation of cell death|neuron differentiation|positive regulation of cell growth	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(9)|liver(1)|lung(15)|ovary(5)|prostate(2)	42		all_cancers(4;1.06e-15)|all_epithelial(4;2.36e-10)|all_lung(4;0.000302)|Lung NSC(4;0.000518)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0256)|all_hematologic(56;0.15)|Melanoma(33;0.2)		Epithelial(2;1.1e-11)|OV - Ovarian serous cystadenocarcinoma(15;7.54e-09)|BRCA - Breast invasive adenocarcinoma(31;0.00247)|STAD - Stomach adenocarcinoma(84;0.164)		ATTAGATCCTAAAAAATATGA	0.358													-	77896426	A	-	77896426	7	5	592	1	0	1	0	1	0	0	0	0	324	363	13	0	3140	0	ADNP2	18	77896426	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	3742469	77896426	180822	509	49747											
PALM	5064	broad.mit.edu	37	chr19	746408	746408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagggtccacggccggggCggcagagacccggggggctg	5	2	22	12	4	0	1	0	0	0	1	1	2	1	1	3	9	0	3	3	9	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:746408C>T	ENST00000264560.7	+	8	820	c.626C>T	c.(625-627)gCg>gTg	p.A209V	PALM_ENST00000593172.1_3'UTR|PALM_ENST00000338448.5_Missense_Mutation_p.A253V	NM_001040134.1	NP_001035224.1	O75781	PALM_HUMAN	paralemmin	253					cellular component movement|negative regulation of adenylate cyclase activity|negative regulation of dopamine receptor signaling pathway|positive regulation of filopodium assembly|regulation of cell shape	cytoplasmic membrane-bounded vesicle|filopodium membrane|integral to plasma membrane				endometrium(2)|large_intestine(1)|lung(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_epithelial(18;2.19e-21)|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)|Lung(535;0.201)		ACGGCCGGGGCGGCAGAGACC	0.726													T	746408	C	T	746408	3	4	592	1	0	0	0	0	1	0	0	0	11484	768	27	1	792	1	PALM	19	746408	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		746408	58382575	510	49748											
SHD	56961	broad.mit.edu	37	chr19	4290594	4290594	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagggtgccgagcatctGgctctgctgtaccccgtggt	4	10	15	12	2	2	0	0	0	2	0	2	1	2	0	3	3	5	5	3	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:4290594G>A	ENST00000543264.2	+	6	2450	c.987G>A	c.(985-987)ctG>ctA	p.L329L	SHD_ENST00000599689.1_Silent_p.L289L	NM_020209.3	NP_064594.3	Q96IW2	SHD_HUMAN	Src homology 2 domain containing transforming protein D	329	SH2.									breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|stomach(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0337)|STAD - Stomach adenocarcinoma(1328;0.18)		CCGAGCATCTGGCTCTGCTGT	0.662													A	4290594	G	A	4290594	2	1	592	1	0	0	0	0	0	0	0	1	14369	1335	47	2		2	SHD	19	4290594	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3544186	4290594	54838389	511	49749											
PTPRS	5802	broad.mit.edu	37	chr19	5244109	5244109	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagtagacgcggtagccgCggatcaggccgttgggctcc	6	8	16	11	5	1	1	1	0	0	1	2	2	2	2	3	4	1	5	3	4	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5244109C>T	ENST00000372412.4	-	11	1609	c.1376G>A	c.(1375-1377)cGc>cAc	p.R459H	PTPRS_ENST00000348075.2_Missense_Mutation_p.R445H|PTPRS_ENST00000588552.1_5'UTR|PTPRS_ENST00000353284.2_Missense_Mutation_p.R445H|PTPRS_ENST00000357368.4_Missense_Mutation_p.R458H|PTPRS_ENST00000587303.1_Missense_Mutation_p.R458H|PTPRS_ENST00000262963.6_Missense_Mutation_p.R454H|PTPRS_ENST00000588012.1_Missense_Mutation_p.R445H|PTPRS_ENST00000592099.1_Missense_Mutation_p.R445H			Q13332	PTPRS_HUMAN	protein tyrosine phosphatase, receptor type, S	458	Fibronectin type-III 2.				cell adhesion	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|biliary_tract(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(9)|ovary(4)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)	61				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0321)|Lung(535;0.182)		GCGGTAGCCGCGGATCAGGCC	0.682													T	5244109	C	T	5244109	3	4	592	1	0	0	0	0	1	0	0	0	12899	768	27	1	4585	1	PTPRS	19	5244109	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	953515	5244109	53884874	512	49750											
DUS3L	56931	broad.mit.edu	37	chr19	5786850	5786850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgctcccgagagcggcCgtggagctgggggagaagcc	6	4	19	12	4	0	2	0	0	0	2	1	5	1	3	3	4	4	3	3	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:5786850C>T	ENST00000309061.7	-	9	1492	c.1396G>A	c.(1396-1398)Ggc>Agc	p.G466S	DUS3L_ENST00000320699.8_Missense_Mutation_p.G224S	NM_020175.2	NP_064560.2	Q96G46	DUS3L_HUMAN	dihydrouridine synthase 3-like (S. cerevisiae)	466					tRNA processing		flavin adenine dinucleotide binding|nucleic acid binding|tRNA dihydrouridine synthase activity|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|prostate(1)|skin(2)	14						CGAGAGCGGCCGTGGAGCTGG	0.642													T	5786850	C	T	5786850	3	4	592	1	0	0	0	0	1	0	0	0	4846	652	23	1	576	1	DUS3L	19	5786850	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	542741	5786850	53342133	513	49751											
VAV1	7409	broad.mit.edu	37	chr19	6772867	6772867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctcatccagtgccgggtgCtgccgcccagccaccgcgtg	4	6	14	17	4	1	0	1	0	0	0	2	0	2	0	6	2	4	2	6	2	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:6772867C>G	ENST00000304076.2	+	1	143	c.49C>G	c.(49-51)Ctg>Gtg	p.L17V	VAV1_ENST00000602142.1_Missense_Mutation_p.L17V|VAV1_ENST00000596764.1_Missense_Mutation_p.L17V	NM_001258206.1	NP_001245135.1	P15498	VAV_HUMAN	vav 1 guanine nucleotide exchange factor	17	CH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|T cell costimulation	cytosol|plasma membrane	metal ion binding|protein binding|sequence-specific DNA binding transcription factor activity			biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(16)|lung(18)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	62						GTGCCGGGTGCTGCCGCCCAG	0.677													G	6772867	C	G	6772867	3	3	592	1	0	0	0	0	1	0	0	0	17233	796	28	4	51	4	VAV1	19	6772867	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	986017	6772867	52356116	514	49752											
MCOLN1	57192	broad.mit.edu	37	chr19	7594070	7594072	+	In_Frame_Del	DEL	CTT	CTT	-																															ggcgtgatccgctacctgacCttcttccacaactacaatgt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7594070_7594072delCTT	ENST00000264079.6	+	10	1343_1345	c.1218_1220delCTT	c.(1216-1221)accttc>acc	p.F408del		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	408			Missing (in MLIV; mild psychomotor involvement; does not affect channel activity; affects channel inhibition by low pH; still localizes to late endosomes).		calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GCTACCTGACCTTCTTCCACAAC	0.581													-	7594072	CTT	-	7594070	7	5	592	1	0	1	0	1	0	0	0	0	9470	668	24	0	1256	0	MCOLN1	19	7594070	In_Frame_Del	DEL	CTT	TCGA-HT-8564-01A-11D-2395-08	821203	7594070	51534913	515	49753											
PNPLA6	10908	broad.mit.edu	37	chr19	7619474	7619474	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggctgtcagggtggctggcCcagcaggaggatgcacaccg	7	5	17	12	2	1	0	1	0	0	0	1	2	1	2	2	6	2	4	2	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:7619474C>T	ENST00000221249.6	+	24	2816	c.2385C>T	c.(2383-2385)gcC>gcT	p.A795A	PNPLA6_ENST00000600737.1_Silent_p.A833A|PNPLA6_ENST00000545201.2_Silent_p.A768A|PNPLA6_ENST00000450331.3_Silent_p.A795A|PNPLA6_ENST00000414982.3_Silent_p.A843A	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	834					cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GGTGGCTGGCCCAGCAGGAGG	0.652													T	7619474	C	T	7619474	2	4	592	1	0	0	0	0	0	0	0	1	12246	610	22	2		2	PNPLA6	19	7619474	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	25404	7619474	51509509	516	49754											
FBN3	84467	broad.mit.edu	37	chr19	8188415	8188415	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcagtggaagctgcccacCgtgtttctgcaggtaccgtg	6	9	14	12	3	1	0	0	0	1	0	1	1	1	1	3	2	4	5	3	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8188415C>T	ENST00000600128.1	-	24	3429	c.3015G>A	c.(3013-3015)acG>acA	p.T1005T	FBN3_ENST00000601739.1_Silent_p.T1005T|FBN3_ENST00000270509.2_Silent_p.T1005T			Q75N90	FBN3_HUMAN	fibrillin 3	1005	EGF-like 12; 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						AGCTGCCCACCGTGTTTCTGC	0.607													T	8188415	C	T	8188415	2	4	592	1	0	0	0	0	0	0	0	1	5753	639	23	1		1	FBN3	19	8188415	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	568941	8188415	50940568	517	49755											
FBN3	84467	broad.mit.edu	37	chr19	8201185	8201185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaggggctgctggtgcattCgtctacatctgaggggagag	7	9	17	8	1	2	2	0	1	2	1	3	3	2	2	0	5	3	4	0	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8201185C>T	ENST00000600128.1	-	12	1768	c.1354G>A	c.(1354-1356)Gaa>Aaa	p.E452K	FBN3_ENST00000601739.1_Missense_Mutation_p.E452K|FBN3_ENST00000270509.2_Missense_Mutation_p.E452K			Q75N90	FBN3_HUMAN	fibrillin 3	452	EGF-like 4; 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						CTGGTGCATTCGTCTACATCT	0.677													T	8201185	C	T	8201185	3	4	592	1	0	0	0	0	1	0	0	0	5753	893	31	1	7287	1	FBN3	19	8201185	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12770	8201185	50927798	518	49756											
MYO1F	4542	broad.mit.edu	37	chr19	8601249	8601249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcgtccccacgccaccGcggccacgtctcgggggtca	4	6	13	18	7	2	0	1	0	1	0	5	0	3	0	5	3	0	1	5	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:8601249G>A	ENST00000338257.8	-	19	2197	c.1930C>T	c.(1930-1932)Cgg>Tgg	p.R644W		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	644	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CCACGCCACCGCGGCCACGTC	0.647													A	8601249	G	A	8601249	3	1	592	1	0	0	0	0	1	0	0	0	10149	1086	38	1	1406	1	MYO1F	19	8601249	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	400064	8601249	50527734	519	49757											
ZNF559	84527	broad.mit.edu	37	chr19	9453655	9453655	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcggtccacatatcttattCgacatctaagaagtcatagt	12	13	6	10	2	3	1	1	0	2	1	6	2	4	1	1	1	0	0	1	1	5	5	rs147456906	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:9453655C>T	ENST00000393883.2	+	6	2176	c.1528C>T	c.(1528-1530)Cga>Tga	p.R510*	ZNF559_ENST00000587557.1_Nonsense_Mutation_p.R574*|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_3'UTR|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000603380.1_Nonsense_Mutation_p.R510*|ZNF177_ENST00000605471.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000538743.1_Nonsense_Mutation_p.R430*|ZNF177_ENST00000541595.2_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559	510					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						ATATCTTATTCGACATCTAAG	0.438													T	9453655	C	T	9453655	4	4	592	1	0	0	0	0	0	1	0	0	18091	876	31	1	1542	1	ZNF559	19	9453655	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	852406	9453655	49675328	520	49758											
ZGLP1	100125288	broad.mit.edu	37	chr19	10419252	10419252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaagggcagtggggtcacGttttcttgggtgactcctgg	6	11	17	7	1	2	2	1	1	1	1	3	3	3	2	1	5	0	2	1	5	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:10419252G>A	ENST00000403903.3	-	1	1304	c.106C>T	c.(106-108)Cgt>Tgt	p.R36C	CTD-2369P2.10_ENST00000452032.2_Intron|ZGLP1_ENST00000403352.1_Intron|FDX1L_ENST00000541276.1_Intron	NM_001103167.1	NP_001096637.1	P0C6A0	ZGLP1_HUMAN	zinc finger, GATA-like protein 1	36					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(2)|ovary(1)	6						GTGGGGTCACGTTTTCTTGGG	0.617													A	10419252	G	A	10419252	3	1	592	1	0	0	0	0	1	0	0	0	17774	1145	40	1	725	1	ZGLP1	19	10419252	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	965597	10419252	48709731	521	49759											
CNN1	1264	broad.mit.edu	37	chr19	11660568	11660568	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccagagctgggtgagccCgcccacaaccaccacgcaca	11	3	9	18	2	0	2	0	1	0	1	0	2	0	2	5	1	4	2	5	1	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:11660568C>T	ENST00000592923.1	+	8	1279	c.702C>T	c.(700-702)ccC>ccT	p.P234P	CNN1_ENST00000544952.1_Silent_p.P264P|CNN1_ENST00000535659.2_Silent_p.P234P|CNN1_ENST00000252456.2_Silent_p.P284P			P51911	CNN1_HUMAN	calponin 1, basic, smooth muscle	284					actomyosin structure organization|regulation of smooth muscle contraction	cytoskeleton	actin binding|calmodulin binding			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9						TGGGTGAGCCCGCCCACAACC	0.632													T	11660568	C	T	11660568	2	4	592	1	0	0	0	0	0	0	0	1	3640	639	23	1		1	CNN1	19	11660568	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1241316	11660568	47468415	522	49760											
ZNF844	284391	broad.mit.edu	37	chr19	12186611	12186611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acactggagagaaaccatatAaatgtaaacaatgtggtaaa	20	8	8	5	0	0	1	0	0	0	1	0	3	0	2	1	2	2	2	1	2	9	4	rs7259684	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12186611A>G	ENST00000439326.3	+	4	851	c.676A>G	c.(676-678)Aaa>Gaa	p.K226E	ZNF844_ENST00000441304.2_3'UTR	NM_001136501.1	NP_001129973.1	Q08AG5	ZN844_HUMAN	zinc finger protein 844	226			K -> E (in dbSNP:rs7259684).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(1)|prostate(1)	10						GAAACCATATAAATGTAAACA	0.373													G	12186611	A	G	12186611	3	3	592	1	0	0	0	0	1	0	0	0	18289	363	13	3	690	3	ZNF844	19	12186611	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	526043	12186611	46942372	523	49761											
MAN2B1	4125	broad.mit.edu	37	chr19	12768302	12768302	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaagctggcgcgcgtagtcGttggccacgtgctggcggga	5	7	18	11	6	0	0	0	0	0	0	1	1	0	1	1	4	2	5	1	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12768302G>A	ENST00000456935.2	-	11	1417	c.1377C>T	c.(1375-1377)aaC>aaT	p.N459N	MAN2B1_ENST00000221363.4_Silent_p.N458N|MAN2B1_ENST00000495617.1_5'UTR	NM_000528.3|NM_001173498.1	NP_000519.2|NP_001166969.1	O00754	MA2B1_HUMAN	mannosidase, alpha, class 2B, member 1	459					protein deglycosylation	lysosome	alpha-mannosidase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCGCGTAGTCGTTGGCCACGT	0.682													A	12768302	G	A	12768302	2	1	592	1	0	0	0	0	0	0	0	1	9291	1136	40	1		1	MAN2B1	19	12768302	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	581691	12768302	46360681	524	49762											
TNPO2	30000	broad.mit.edu	37	chr19	12817117	12817117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaggcaaagacaagggtgtCcaggatgtagctgaggtagg	14	6	16	5	0	0	2	0	1	0	1	1	3	1	3	1	5	1	4	1	5	5	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:12817117C>T	ENST00000425528.1	-	15	1918	c.1561G>A	c.(1561-1563)Gac>Aac	p.D521N	TNPO2_ENST00000588216.1_Missense_Mutation_p.D521N|TNPO2_ENST00000356861.5_Missense_Mutation_p.D521N|TNPO2_ENST00000450764.2_Missense_Mutation_p.D521N|TNPO2_ENST00000592287.1_Missense_Mutation_p.D521N|TNPO2_ENST00000441499.1_Missense_Mutation_p.D521N			O14787	TNPO2_HUMAN	transportin 2	521					intracellular protein transport	cytoplasm|nucleus	nuclear localization sequence binding|protein binding|protein transporter activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						ACAAGGGTGTCCAGGATGTAG	0.587													T	12817117	C	T	12817117	3	4	592	1	0	0	0	0	1	0	0	0	16436	855	30	2	1176	2	TNPO2	19	12817117	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	48815	12817117	46311866	525	49763											
SLC1A6	6511	broad.mit.edu	37	chr19	15072860	15072860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatagcctcattgaggctgtCgaagaagtccctgaggactc	11	9	11	10	1	1	3	1	2	0	1	4	5	2	4	2	2	1	1	2	2	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15072860C>T	ENST00000598504.1	-	8	2248	c.889G>A	c.(889-891)Gac>Aac	p.D297N	SLC1A6_ENST00000430939.2_Missense_Mutation_p.D233N|SLC1A6_ENST00000544886.2_Missense_Mutation_p.D297N|SLC1A6_ENST00000600144.1_Missense_Mutation_p.D297N|SLC1A6_ENST00000221742.3_Missense_Mutation_p.D297N	NM_001272087.1	NP_001259016.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	297					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TTGAGGCTGTCGAAGAAGTCC	0.572													T	15072860	C	T	15072860	3	4	592	1	0	0	0	0	1	0	0	0	14530	884	31	1	825	1	SLC1A6	19	15072860	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2255743	15072860	44056123	526	49764											
PGLYRP2	114770	broad.mit.edu	37	chr19	15580456	15580456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactcaccgcggtgaagtgcGgccaggtgcgcagcaggtcg	7	5	17	12	5	1	1	1	1	0	0	2	2	1	1	2	4	3	2	2	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15580456G>A	ENST00000292609.4	-	4	1757	c.1628C>T	c.(1627-1629)cCg>cTg	p.P543L	PGLYRP2_ENST00000340880.4_Missense_Mutation_p.P543L			Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	543					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGTGAAGTGCGGCCAGGTGCG	0.721													A	15580456	G	A	15580456	3	1	592	1	0	0	0	0	1	0	0	0	11871	1116	39	1	110	1	PGLYRP2	19	15580456	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	507596	15580456	43548527	527	49765											
OR10H1	26539	broad.mit.edu	37	chr19	15918656	15918656	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctcggagacggagagggcGcacaggaagaggtacatggg	12	4	18	7	3	1	3	0	0	1	3	2	6	1	4	0	6	1	2	0	6	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:15918656G>A	ENST00000334920.2	-	1	280	c.192C>T	c.(190-192)tgC>tgT	p.C64C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	64					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CGGAGAGGGCGCACAGGAAGA	0.642													A	15918656	G	A	15918656	2	1	592	1	0	0	0	0	0	0	0	1	10981	1079	38	1		1	OR10H1	19	15918656	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	338200	15918656	43210327	528	49766											
KCNN1	3780	broad.mit.edu	37	chr19	18092920	18092920	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatcatcgcagcctggaccGtgcgcgtctgcgagaggtgc	6	7	16	12	5	2	1	1	0	1	1	3	4	2	3	2	3	4	1	2	3	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:18092920G>A	ENST00000222249.9	+	5	1220	c.901G>A	c.(901-903)Gtg>Atg	p.V301M		NM_002248.3	NP_002239.2	Q92952	KCNN1_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 1						synaptic transmission	voltage-gated potassium channel complex	calmodulin binding|small conductance calcium-activated potassium channel activity			endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	8						AGCCTGGACCGTGCGCGTCTG	0.652													A	18092920	G	A	18092920	3	1	592	1	0	0	0	0	1	0	0	0	8136	1145	40	1	911	1	KCNN1	19	18092920	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2174264	18092920	41036063	529	49767											
TSSK6	83983	broad.mit.edu	37	chr19	19625703	19625703	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggagcacctcgggtgaCgcgtaggcggctgagccgca	7	4	16	14	5	0	2	0	2	0	0	1	3	0	3	3	4	2	4	3	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19625703C>T	ENST00000360913.3	-	1	1135	c.534G>A	c.(532-534)gcG>gcA	p.A178A	TSSK6_ENST00000585580.3_Silent_p.A178A			Q9BXA6	TSSK6_HUMAN	testis-specific serine kinase 6	178	Protein kinase.				multicellular organismal development|sperm chromatin condensation		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	16						CCTCGGGTGACGCGTAGGCGG	0.662													T	19625703	C	T	19625703	2	4	592	1	0	0	0	0	0	0	0	1	16773	523	19	1		1	TSSK6	19	19625703	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1532783	19625703	39503280	530	49768											
CILP2	148113	broad.mit.edu	37	chr19	19655182	19655182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcccgggtgacgttcGtggacccccgagacctcacc	6	6	14	15	4	1	2	1	1	0	1	2	5	1	4	5	4	0	1	5	4	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:19655182G>A	ENST00000586018.1	+	8	1948	c.1846G>A	c.(1846-1848)Gtg>Atg	p.V616M	CILP2_ENST00000291495.5_Missense_Mutation_p.V610M			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	610						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						GGTGACGTTCGTGGACCCCCG	0.692													A	19655182	G	A	19655182	3	1	592	1	0	0	0	0	1	0	0	0	3460	1145	40	1	1858	1	CILP2	19	19655182	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29479	19655182	39473801	531	49769											
CD22	933	broad.mit.edu	37	chr19	35823774	35823774	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtcagctggggctgaGgatggagtccaagactgaga	10	7	17	7	0	1	3	1	2	0	2	2	6	2	5	1	5	1	2	1	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:35823774G>T	ENST00000085219.5	+	3	425	c.359G>T	c.(358-360)aGg>aTg	p.R120M	CD22_ENST00000536635.2_Missense_Mutation_p.R120M|CD22_ENST00000419549.2_5'UTR|CD22_ENST00000544992.2_Missense_Mutation_p.R120M|CD22_ENST00000595419.1_3'UTR|CD22_ENST00000270311.6_5'UTR|CD22_ENST00000594250.1_Missense_Mutation_p.R120M|CD22_ENST00000341773.6_Missense_Mutation_p.R120M	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	120	Ig-like V-type.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	CTGGGGCTGAGGATGGAGTCC	0.542													T	35823774	G	T	35823774	3	4	592	1	0	0	0	0	1	0	0	0	3015	1000	35	4	365	4	CD22	19	35823774	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	16168592	35823774	23305209	532	49770											
GGN	199720	broad.mit.edu	37	chr19	38876366	38876366	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagccgcgggtgcgggcgcGgacacaggcggcgagggctc	5	2	21	13	7	0	0	0	0	0	0	1	2	0	1	1	6	2	2	1	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38876366G>A	ENST00000334928.6	-	3	1668	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	AC005789.9_ENST00000585411.1_RNA|GGN_ENST00000591809.1_Intron	NM_152657.3	NP_689870.3	Q86UU5	GGN_HUMAN	gametogenetin	512	Interactions with ZNF403/GGNBP2 and OAZ3 (By similarity).|Pro-rich.				cell differentiation|multicellular organismal development|spermatogenesis					breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(7)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(60;3.4e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			gtgcgggcgcggacacaggcg	0.746													A	38876366	G	A	38876366	2	1	592	1	0	0	0	0	0	0	0	1	6414	1103	39	1		1	GGN	19	38876366	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3052592	38876366	20252617	533	49771											
RYR1	6261	broad.mit.edu	37	chr19	38974156	38974156	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacatccccgaggagaaccGgtcagggccagcccagctat	10	4	12	15	2	1	1	1	0	0	1	2	3	2	1	5	3	3	2	5	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:38974156G>A	ENST00000355481.4	+	33	5065	c.4934G>A	c.(4933-4935)cGg>cAg	p.R1645Q	RYR1_ENST00000359596.3_Splice_Site_p.R1645Q|RYR1_ENST00000360985.3_Splice_Site_p.R1645Q	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	1645	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	GAGGAGAACCGGTCAGGGCCA	0.687													A	38974156	G	A	38974156	5	1	592	1	0	0	0	0	0	0	1	0	13859	1130	39	1	5064	1	RYR1	19	38974156	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	97790	38974156	20154827	534	49772											
LGALS4	3960	broad.mit.edu	37	chr19	39299582	39299582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccaaccacaaagttcacGaagaacctggcgggacacaa	15	4	9	13	2	1	1	1	0	0	1	1	3	1	2	3	2	3	1	3	2	5	1	rs140167180		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39299582G>A	ENST00000307751.4	-	3	618	c.141C>T	c.(139-141)ttC>ttT	p.F47F	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	47	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAAAGTTCACGAAGAACCTGG	0.642													A	39299582	G	A	39299582	2	1	592	1	0	0	0	0	0	0	0	1	8804	1049	37	1		1	LGALS4	19	39299582	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	325426	39299582	19829401	535	49773											
NCCRP1	342897	broad.mit.edu	37	chr19	39691350	39691350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagcctggtgggctgcggcGgacacgggtgaccgactcct	5	6	18	12	4	0	1	0	1	0	0	1	4	1	3	3	6	2	1	3	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:39691350G>A	ENST00000339852.4	+	6	804	c.782G>A	c.(781-783)cGg>cAg	p.R261Q		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	261	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						GGGCTGCGGCGGACACGGGTG	0.632													A	39691350	G	A	39691350	3	1	592	1	0	0	0	0	1	0	0	0	10289	1116	39	1	804	1	NCCRP1	19	39691350	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	391768	39691350	19437633	536	49774											
PRX	57716	broad.mit.edu	37	chr19	40913824	40913824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactcacctcggcactccGgctcctggcctccatggcgt	4	8	11	18	3	1	0	1	0	0	0	5	0	4	0	5	5	0	3	5	5	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:40913824G>A	ENST00000291825.7	-	4	284	c.16C>T	c.(16-18)Cgg>Tgg	p.R6W	PRX_ENST00000599513.1_5'UTR|PRX_ENST00000324001.7_Missense_Mutation_p.R6W	NM_020956.2	NP_066007.1	Q9BXM0	PRAX_HUMAN	periaxin	6					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCGGCACTCCGGCTCCTGGCC	0.627													A	40913824	G	A	40913824	3	1	592	1	0	0	0	0	1	0	0	0	12727	1115	39	1	4448	1	PRX	19	40913824	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1222474	40913824	18215159	537	49775											
LYPD4	147719	broad.mit.edu	37	chr19	42343292	42343292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atccagccccacaggacataCgaggcagagtggagatggcc	12	4	13	12	1	0	2	0	0	0	2	1	5	1	3	4	4	2	1	4	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42343292C>T	ENST00000601246.1	-	4	438	c.68G>A	c.(67-69)cGt>cAt	p.R23H	LYPD4_ENST00000330743.3_Splice_Site|LYPD4_ENST00000343055.4_Missense_Mutation_p.R23H			Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	23						anchored to membrane|plasma membrane				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACAGGACATACGAGGCAGAGT	0.577													T	42343292	C	T	42343292	3	4	592	1	0	0	0	0	1	0	0	0	9183	550	19	1	688	1	LYPD4	19	42343292	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1429468	42343292	16785691	538	49776											
LIPE	3991	broad.mit.edu	37	chr19	42912409	42912409	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtctcgttgcgtttgtaGtgctccccgaaggacaccag	6	11	11	13	3	1	0	0	0	1	0	3	2	2	1	4	1	2	4	4	1	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:42912409G>A	ENST00000244289.4	-	3	1761	c.1485C>T	c.(1483-1485)caC>caT	p.H495H	LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000593491.2_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000599276.1_RNA|LIPE_ENST00000602000.1_5'UTR	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	495					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TGCGTTTGTAGTGCTCCCCGA	0.627													A	42912409	G	A	42912409	2	1	592	1	0	0	0	0	0	0	0	1	8882	1020	36	2		2	LIPE	19	42912409	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	569117	42912409	16216574	539	49777											
PSG8	440533	broad.mit.edu	37	chr19	43259265	43259265	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatcctgttttcaatgggtCgctttaccctgggactgacc	6	13	11	11	1	1	1	1	1	0	0	3	3	2	3	3	3	1	2	3	3	2	4	rs113087470		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:43259265C>T	ENST00000404209.4	-	4	959	c.863G>A	c.(862-864)cGa>cAa	p.R288Q	PSG8_ENST00000401467.2_Missense_Mutation_p.R195Q|PSG8_ENST00000306511.4_Missense_Mutation_p.R288Q|PSG8_ENST00000406636.3_Missense_Mutation_p.R166Q|PSG8_ENST00000600709.1_Intron	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	288	Ig-like C2-type 2.					extracellular region				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TTCAATGGGTCGCTTTACCCT	0.468													T	43259265	C	T	43259265	3	4	592	1	0	0	0	0	1	0	0	0	12746	884	31	1	446	1	PSG8	19	43259265	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	346856	43259265	15869718	540	49778											
APOE	348	broad.mit.edu	37	chr19	45411904	45411904	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccaaggagctgcaggcGgcgcaggcccggctgggcgc	5	4	18	14	4	0	0	0	0	0	0	1	1	1	1	2	6	2	4	2	6	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45411904G>A	ENST00000252486.4	+	4	462	c.351G>A	c.(349-351)gcG>gcA	p.A117A		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	117	8 X 22 AA approximate tandem repeats.		A -> T (in isoform E3*; dbSNP:rs28931577).		anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	AGCTGCAGGCGGCGCAGGCCC	0.682													A	45411904	G	A	45411904	2	1	592	1	0	0	0	0	0	0	0	1	805	1103	39	1		1	APOE	19	45411904	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2152639	45411904	13717079	541	49779											
PPP1R13L	10848	broad.mit.edu	37	chr19	45885827	45885827	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagccctcctggccgtgcagCgcggcccaccaccagtcggt	5	6	12	18	4	0	0	0	0	0	0	2	0	1	0	6	3	3	1	6	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:45885827C>T	ENST00000418234.2	-	12	2484	c.2406G>A	c.(2404-2406)gcG>gcA	p.A802A	PPP1R13L_ENST00000360957.5_Silent_p.A802A	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	802	SH3.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding	p.A802A(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		GGCCGTGCAGCGCGGCCCACC	0.697													T	45885827	C	T	45885827	2	4	592	1	0	0	0	0	0	0	0	1	12440	755	27	1		1	PPP1R13L	19	45885827	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	473923	45885827	13243156	542	49780											
PGLYRP1	8993	broad.mit.edu	37	chr19	46522887	46522887	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccctcgtatacgagcccGtcttctccaatcaggaagct	8	9	9	15	4	3	0	1	0	2	0	5	2	3	1	3	2	3	2	3	2	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:46522887G>A	ENST00000008938.4	-	2	349	c.306C>T	c.(304-306)gaC>gaT	p.D102D	CCDC61_ENST00000601763.1_Intron	NM_005091.2	NP_005082.1	O75594	PGRP1_HUMAN	peptidoglycan recognition protein 1	102					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region	bacterial cell surface binding|N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)|ovary(2)	10		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.0036)|GBM - Glioblastoma multiforme(486;0.022)|Epithelial(262;0.208)		ATACGAGCCCGTCTTCTCCAA	0.592													A	46522887	G	A	46522887	2	1	592	1	0	0	0	0	0	0	0	1	11870	1136	40	1		1	PGLYRP1	19	46522887	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	637060	46522887	12606096	543	49781											
GRIN2D	2906	broad.mit.edu	37	chr19	48908573	48908573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcggccacgactgtcgcGcccagaaccgcacccaccgc	8	3	10	20	6	0	1	0	0	0	1	2	2	0	1	5	1	2	2	5	1	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:48908573G>A	ENST00000263269.3	+	3	1136	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T		NM_000836.2	NP_000827.2	O15399	NMDE4_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2D	350						cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|protein binding			autonomic_ganglia(1)|breast(6)|endometrium(2)|large_intestine(9)|lung(12)|ovary(5)|pancreas(1)|prostate(1)	37		all_epithelial(76;1.11e-06)|all_lung(116;5.79e-06)|Lung NSC(112;1.18e-05)|all_neural(266;0.0189)|Ovarian(192;0.0261)|Breast(70;0.203)		all cancers(93;0.00014)|OV - Ovarian serous cystadenocarcinoma(262;0.000233)|Epithelial(262;0.0112)|GBM - Glioblastoma multiforme(486;0.0161)	L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Orphenadrine(DB01173)	CGACTGTCGCGCCCAGAACCG	0.652													A	48908573	G	A	48908573	3	1	592	1	0	0	0	0	1	0	0	0	6837	1087	38	1	1054	1	GRIN2D	19	48908573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2385686	48908573	10220410	544	49782											
TSKS	60385	broad.mit.edu	37	chr19	50265270	50265270	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccctcaccaggatttcCgtgatgtctgcgtcatccgg	6	10	12	13	3	3	1	2	1	1	0	5	2	5	2	4	3	1	0	4	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50265270C>T	ENST00000246801.3	-	2	472	c.390G>A	c.(388-390)acG>acA	p.T130T		NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	130							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CCAGGATTTCCGTGATGTCTG	0.622													T	50265270	C	T	50265270	2	4	592	1	0	0	0	0	0	0	0	1	16727	639	23	1		1	TSKS	19	50265270	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1356697	50265270	8863713	545	49783											
POLD1	5424	broad.mit.edu	37	chr19	50912844	50912844	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatggacggcagctggCgctgaaggtgagcgccaact	8	6	16	11	3	0	2	0	2	0	0	0	4	0	4	2	5	3	3	2	5	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50912844C>T	ENST00000440232.2	+	17	2128	c.2075C>T	c.(2074-2076)gCg>gTg	p.A692V	POLD1_ENST00000599857.1_Missense_Mutation_p.A692V|POLD1_ENST00000595904.1_Missense_Mutation_p.A718V	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	692					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		CGGCAGCTGGCGCTGAAGGTG	0.672								DNA polymerases (catalytic subunits)					T	50912844	C	T	50912844	3	4	592	1	0	0	0	0	1	0	0	0	12267	768	27	1	2137	1	POLD1	19	50912844	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	647574	50912844	8216139	546	49784											
SPIB	6689	broad.mit.edu	37	chr19	50926144	50926144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctatgaagccttcgacccGgcagcagccgcttttagcca	8	8	9	16	3	0	1	0	1	0	0	1	2	0	1	5	1	4	3	5	1	3	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:50926144G>A	ENST00000599632.1	+	8	592	c.592G>A	c.(592-594)Ggc>Agc	p.G198S	SPIB_ENST00000595883.1_Silent_p.P63P|SPIB_ENST00000439922.2_Intron|SPIB_ENST00000596074.1_Intron|SPIB_ENST00000270632.7_Silent_p.P63P|SPIB_ENST00000597855.1_Silent_p.P63P						64																	CCTTCGACCCGGCAGCAGCCG	0.662													A	50926144	G	A	50926144	3	1	592	1	0	0	0	0	1	0	0	0	15146	1103	39	1	203	1	SPIB	19	50926144	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13300	50926144	8202839	547	49785											
ZNF841	284371	broad.mit.edu	37	chr19	52569526	52569526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgtaaggtttctctcCggtatgaattctctgatgta	9	17	8	7	1	2	2	0	2	2	0	5	2	3	2	1	2	0	4	1	2	4	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:52569526C>T	ENST00000389534.4	-	7	2068	c.1609G>A	c.(1609-1611)Gga>Aga	p.G537R	ZNF432_ENST00000598446.1_Intron|ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.G537R|ZNF841_ENST00000426391.2_Missense_Mutation_p.G421R	NM_001136499.1	NP_001129971.1	Q6ZN19	ZN841_HUMAN	zinc finger protein 841	421					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						GGTTTCTCTCCGGTATGAATT	0.398													T	52569526	C	T	52569526	3	4	592	1	0	0	0	0	1	0	0	0	18288	661	23	1	1169	1	ZNF841	19	52569526	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1643382	52569526	6559457	548	49786											
LILRB4	11006	broad.mit.edu	37	chr19	55175317	55175317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaggctcgggagtaccGtctggataaagaggaaagcc	11	6	15	9	2	1	1	0	0	1	1	2	5	1	5	3	5	2	2	3	5	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55175317G>A	ENST00000391736.1	+	5	491	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB4_ENST00000430952.2_Missense_Mutation_p.R59H|LILRB4_ENST00000391734.3_Missense_Mutation_p.R59H|LILRB4_ENST00000391733.3_Missense_Mutation_p.R59H|LILRB4_ENST00000270452.2_Missense_Mutation_p.R59H	NM_001278426.2|NM_001278428.2|NM_001278429.2|NM_001278430.2	NP_001265355.1|NP_001265357.1|NP_001265358.1|NP_001265359.1	Q8NHJ6	LIRB4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 4	59	Ig-like C2-type 1.					integral to membrane|plasma membrane	antigen binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(20)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	39				GBM - Glioblastoma multiforme(193;0.035)		CGGGAGTACCGTCTGGATAAA	0.587													A	55175317	G	A	55175317	3	1	592	1	0	0	0	0	1	0	0	0	8853	1145	40	1	186	1	LILRB4	19	55175317	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2605791	55175317	3953666	549	49787											
NLRP7	199713	broad.mit.edu	37	chr19	55451430	55451430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcagctcatcaaggccatCgaccacgaacaggattctct	11	10	7	13	2	4	0	3	0	1	0	6	3	4	1	2	2	2	1	2	2	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55451430C>T	ENST00000588756.1	-	6	1243	c.757G>A	c.(757-759)Gat>Aat	p.D253N	NLRP7_ENST00000448121.2_Missense_Mutation_p.D253N|NLRP7_ENST00000340844.2_Missense_Mutation_p.D253N|NLRP7_ENST00000592784.1_Missense_Mutation_p.D253N|NLRP7_ENST00000590030.1_Missense_Mutation_p.D253N|NLRP7_ENST00000446217.1_Missense_Mutation_p.D281N|NLRP7_ENST00000328092.5_Missense_Mutation_p.D253N			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	253	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCAAGGCCATCGACCACGAAC	0.567													T	55451430	C	T	55451430	3	4	592	1	0	0	0	0	1	0	0	0	10558	884	31	1	2388	1	NLRP7	19	55451430	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	276113	55451430	3677553	550	49788											
NLRP2	55655	broad.mit.edu	37	chr19	55493635	55493635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggttatggctgagagatacaAgatgctgatcccattcagca	12	10	11	8	0	1	4	1	2	0	2	2	5	2	4	1	2	3	4	1	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55493635A>T	ENST00000543010.1	+	6	712	c.569A>T	c.(568-570)aAg>aTg	p.K190M	NLRP2_ENST00000391721.4_Missense_Mutation_p.K166M|NLRP2_ENST00000263437.6_Missense_Mutation_p.K187M|NLRP2_ENST00000537859.1_Missense_Mutation_p.K168M|NLRP2_ENST00000339757.7_Missense_Mutation_p.K168M|NLRP2_ENST00000427260.2_Missense_Mutation_p.K167M|NLRP2_ENST00000538819.1_Missense_Mutation_p.K166M|NLRP2_ENST00000448584.2_Missense_Mutation_p.K190M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	190					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GAGAGATACAAGATGCTGATC	0.542													T	55493635	A	T	55493635	3	4	592	1	0	0	0	0	1	0	0	0	10553	72	3	5	587	5	NLRP2	19	55493635	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	42205	55493635	3635348	551	49789											
NLRP2	55655	broad.mit.edu	37	chr19	55494882	55494882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagacctgcaggagctcCtcggctgtctgtacgagtct	7	10	12	12	2	2	2	0	1	2	1	4	4	3	3	2	2	3	4	2	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:55494882C>T	ENST00000543010.1	+	6	1959	c.1816C>T	c.(1816-1818)Ctc>Ttc	p.L606F	NLRP2_ENST00000391721.4_Missense_Mutation_p.L582F|NLRP2_ENST00000263437.6_Missense_Mutation_p.L603F|NLRP2_ENST00000537859.1_Missense_Mutation_p.L584F|NLRP2_ENST00000339757.7_Missense_Mutation_p.L584F|NLRP2_ENST00000427260.2_Missense_Mutation_p.L583F|NLRP2_ENST00000538819.1_Missense_Mutation_p.L582F|NLRP2_ENST00000448584.2_Missense_Mutation_p.L606F	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	606					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCAGGAGCTCCTCGGCTGTCT	0.517													T	55494882	C	T	55494882	3	4	592	1	0	0	0	0	1	0	0	0	10553	681	24	2	1834	2	NLRP2	19	55494882	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1247	55494882	3634101	552	49790											
SBK2	646643	broad.mit.edu	37	chr19	56041301	56041301	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtcccggggctggcccgaCgcctgccagatgaggaagtc	6	5	16	14	4	0	2	0	1	0	1	2	4	1	3	4	5	1	1	4	5	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:56041301C>T	ENST00000413299.1	-	4	883	c.846G>A	c.(844-846)gcG>gcA	p.A282A	SBK2_ENST00000344158.3_Silent_p.A282A	NM_001101401.2	NP_001094871.2	P0C263	SBK2_HUMAN	SH3 domain binding kinase family, member 2	282	Protein kinase.						ATP binding|protein serine/threonine kinase activity			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9						GCTGGCCCGACGCCTGCCAGA	0.731													T	56041301	C	T	56041301	2	4	592	1	0	0	0	0	0	0	0	1	13953	523	19	1		1	SBK2	19	56041301	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	546419	56041301	3087682	553	49791											
ZNF835	90485	broad.mit.edu	37	chr19	57176021	57176021	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgcgtgcgccagtgggaCgccaggtacgagccctggct	5	7	17	12	4	0	0	0	0	0	0	0	2	0	1	3	3	4	2	3	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:57176021C>T	ENST00000537055.2	-	2	777	c.546G>A	c.(544-546)gcG>gcA	p.A182A		NM_001005850.2	NP_001005850.2			zinc finger protein 835											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(22)|pancreas(3)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	47						GCCAGTGGGACGCCAGGTACG	0.716													T	57176021	C	T	57176021	2	4	592	1	0	0	0	0	0	0	0	1	18285	523	19	1		1	ZNF835	19	57176021	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1134720	57176021	1952962	554	49792											
ZNF416	55659	broad.mit.edu	37	chr19	58084870	58084870	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggtcctggtgaaagacCgcacatgccccagtcaagta	10	9	10	12	1	2	2	1	1	1	1	3	2	3	2	4	2	1	2	4	2	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58084870C>T	ENST00000196489.3	-	4	624	c.402G>A	c.(400-402)gcG>gcA	p.A134A		NM_017879.1	NP_060349.1	Q9BWM5	ZN416_HUMAN	zinc finger protein 416	134					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(5)|lung(12)|prostate(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0259)		GGTGAAAGACCGCACATGCCC	0.502													T	58084870	C	T	58084870	2	4	592	1	0	0	0	0	0	0	0	1	17994	639	23	1		1	ZNF416	19	58084870	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	908849	58084870	1044113	555	49793											
ZSCAN18	65982	broad.mit.edu	37	chr19	58596148	58596148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgggcttcgcgggtggaCggttgggggccccgggcgcc	1	6	21	13	5	0	0	0	0	0	0	1	1	0	1	4	7	0	2	4	7	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58596148C>T	ENST00000240727.6	-	7	1836	c.1437G>A	c.(1435-1437)ccG>ccA	p.P479P	ZSCAN18_ENST00000601144.1_Silent_p.P479P|ZSCAN18_ENST00000600404.1_Silent_p.P535P|ZSCAN18_ENST00000421612.2_Silent_p.P343P	NM_023926.4	NP_076415.3	Q8TBC5	ZSC18_HUMAN	zinc finger and SCAN domain containing 18	479					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|skin(3)	19		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.114)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGCGGGTGGACGGTTGGGGGC	0.726													T	58596148	C	T	58596148	2	4	592	1	0	0	0	0	0	0	0	1	18328	523	19	1		1	ZSCAN18	19	58596148	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	511278	58596148	532835	556	49794											
ZNF324B	388569	broad.mit.edu	37	chr19	58967425	58967425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggcgtccttatgcttgcGcacagtgtggccgccgcttc	3	11	14	13	4	0	0	0	0	0	0	2	0	1	0	3	2	2	3	3	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr19:58967425G>A	ENST00000391696.1	+	3	2016	c.1084G>A	c.(1084-1086)Gca>Aca	p.A362T	ZNF324B_ENST00000336614.4_Missense_Mutation_p.A372T|ZNF324B_ENST00000545523.1_Missense_Mutation_p.A372T			Q6AW86	Z324B_HUMAN	zinc finger protein 324B	372					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TTATGCTTGCGCACAGTGTGG	0.657													A	58967425	G	A	58967425	3	1	592	1	0	0	0	0	1	0	0	0	17946	1087	38	1	1124	1	ZNF324B	19	58967425	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	371277	58967425	161558	557	49795											
MAVS	57506	broad.mit.edu	37	chr20	3845039	3845041	+	In_Frame_Del	DEL	CTC	CTC	-																															gtatctactggcacctccttCtcctcctcatcccctggctt																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:3845039_3845041delCTC	ENST00000428216.2	+	6	890_892	c.762_764delCTC	c.(760-765)ttctcc>ttc	p.S258del	MAVS_ENST00000416600.2_In_Frame_Del_p.S117del|MAVS_ENST00000358134.6_3'UTR	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein	258					activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						GCACCTCCTTCTCCTCCTCATCC	0.626													-	3845041	CTC	-	3845039	7	5	592	1	0	1	0	1	0	0	0	0	9413	912	32	0	780	0	MAVS	20	3845039	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08		3845039	59180481	558	49796											
BFSP1	631	broad.mit.edu	37	chr20	17489628	17489628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggccacctcccgctccGtcaggagcttctcctgcaca	5	7	11	18	3	2	0	1	0	1	0	5	1	4	1	5	3	2	3	5	3	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:17489628G>A	ENST00000377873.3	-	5	680	c.641C>T	c.(640-642)aCg>aTg	p.T214M	BFSP1_ENST00000544874.1_Missense_Mutation_p.T75M|BFSP1_ENST00000536626.1_Missense_Mutation_p.T75M|BFSP1_ENST00000377868.2_Missense_Mutation_p.T89M	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	214	Coil 2.|Rod.					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						CTCCCGCTCCGTCAGGAGCTT	0.647													A	17489628	G	A	17489628	3	1	592	1	0	0	0	0	1	0	0	0	1421	1145	40	1	1372	1	BFSP1	20	17489628	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	13644589	17489628	45535892	559	49797											
PLAGL2	5326	broad.mit.edu	37	chr20	30789887	30789887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacttgactctccgcctccCggccccgaggcctgggaact	5	8	10	18	3	2	1	1	1	1	0	4	3	3	2	6	3	1	0	6	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:30789887C>T	ENST00000246229.4	-	2	359	c.95G>A	c.(94-96)cGg>cAg	p.R32Q		NM_002657.3	NP_002648.1	Q9UPG8	PLAL2_HUMAN	pleiomorphic adenoma gene-like 2	32						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(2)|liver(1)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			CTCCGCCTCCCGGCCCCGAGG	0.567													T	30789887	C	T	30789887	3	4	592	1	0	0	0	0	1	0	0	0	12097	652	23	1	1403	1	PLAGL2	20	30789887	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	13300259	30789887	32235633	560	49798											
DNMT3B	1789	broad.mit.edu	37	chr20	31368261	31368261	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaggctatccgcaccccGgagatcagaggtggctgggc	7	6	16	12	2	1	2	1	0	0	2	2	4	2	3	3	6	0	3	3	6	1	1	rs138805251		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:31368261G>A	ENST00000328111.2	+	2	453	c.132G>A	c.(130-132)ccG>ccA	p.P44P	DNMT3B_ENST00000353855.2_Silent_p.P44P|DNMT3B_ENST00000443239.3_Silent_p.P44P|DNMT3B_ENST00000201963.3_Silent_p.P56P|DNMT3B_ENST00000375623.4_Silent_p.P44P|DNMT3B_ENST00000456297.2_Silent_p.P44P|DNMT3B_ENST00000348286.2_Silent_p.P44P|DNMT3B_ENST00000344505.4_Silent_p.P44P	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	44	Interaction with DNMT1 and DNMT3A.				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCGCACCCCGGAGATCAGAG	0.652													A	31368261	G	A	31368261	2	1	592	1	0	0	0	0	0	0	0	1	4716	1103	39	1		1	DNMT3B	20	31368261	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	578374	31368261	31657259	561	49799											
DYNLRB1	83658	broad.mit.edu	37	chr20	33122560	33122560	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaacgatctcaccttccttCgaattcgctccaagaaaaat	14	10	5	12	3	1	2	1	0	1	2	6	4	3	2	3	0	1	1	3	0	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:33122560C>T	ENST00000417166.2	+	3	241	c.208C>T	c.(208-210)Cga>Tga	p.R70*	DYNLRB1_ENST00000357156.2_Nonsense_Mutation_p.R70*|DYNLRB1_ENST00000374846.3_Nonsense_Mutation_p.R122*|DYNLRB1_ENST00000480759.1_3'UTR			Q9NP97	DLRB1_HUMAN	dynein, light chain, roadblock-type 1	70					microtubule-based movement|transport|visual behavior	centrosome|cytoplasmic dynein complex|microtubule	microtubule motor activity			endometrium(1)|large_intestine(1)|lung(1)	3						CACCTTCCTTCGAATTCGCTC	0.537													T	33122560	C	T	33122560	4	4	592	1	0	0	0	0	0	1	0	0	4889	876	31	1	218	1	DYNLRB1	20	33122560	Nonsense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1754299	33122560	29902960	562	49800											
EPB41L1	2036	broad.mit.edu	37	chr20	34770234	34770234	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcacagtcaagttctacccGcctgatcctgcccagctgac	8	10	7	16	1	3	2	2	2	1	0	4	2	4	2	4	0	3	2	4	0	2	3	rs139137163	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:34770234G>A	ENST00000338074.2	+	6	692	c.531G>A	c.(529-531)ccG>ccA	p.P177P	EPB41L1_ENST00000373941.1_Silent_p.P177P|EPB41L1_ENST00000202028.5_Silent_p.P115P|EPB41L1_ENST00000373946.3_Silent_p.P146P|EPB41L1_ENST00000373950.2_Silent_p.P80P|EPB41L1_ENST00000441639.1_Silent_p.P115P	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	177	FERM.				cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AGTTCTACCCGCCTGATCCTG	0.582													A	34770234	G	A	34770234	2	1	592	1	0	0	0	0	0	0	0	1	5193	1074	38	1		1	EPB41L1	20	34770234	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1647674	34770234	28255286	563	49801											
DHX35	60625	broad.mit.edu	37	chr20	37659354	37659354	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatgttccaaggaccatcCgtgatgaccatgagctgcac	10	10	9	12	1	1	3	0	3	1	0	3	4	3	4	4	1	2	3	4	1	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:37659354C>T	ENST00000252011.3	+	20	1924	c.1891C>T	c.(1891-1893)Cgt>Tgt	p.R631C	DHX35_ENST00000373325.2_Intron|DHX35_ENST00000373323.4_Missense_Mutation_p.R600C	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	631						catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				AAGGACCATCCGTGATGACCA	0.438													T	37659354	C	T	37659354	3	4	592	1	0	0	0	0	1	0	0	0	4547	652	23	1	1969	1	DHX35	20	37659354	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2889120	37659354	25366166	564	49802											
GTSF1L	149699	broad.mit.edu	37	chr20	42354972	42354972	+	Frame_Shift_Del	DEL	A	A	-																															tcacaaacaaccttttgaggAaaaaaagtcttaaggacaaa																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:42354972delA	ENST00000373003.1	-	1	666	c.363delT	c.(361-363)tttfs	p.F121fs	GTSF1L_ENST00000373005.2_Frame_Shift_Del_p.F96fs	NM_001008901.1|NM_176791.3	NP_001008901.1|NP_789761.1	Q9H1H1	GTSFL_HUMAN	gametocyte specific factor 1-like	121							metal ion binding			endometrium(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			CCTTTTGAGGAAAAAAAGTCT	0.493													-	42354972	A	-	42354972	7	5	592	1	0	1	0	1	0	0	0	0	6942	243	9	0	87	0	GTSF1L	20	42354972	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	4695618	42354972	20670548	565	49803											
CDH22	64405	broad.mit.edu	37	chr20	44838993	44838993	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccgcgccgtcaccacgccGaccagggagcccacctgcgc	6	3	11	21	6	1	0	1	0	0	0	2	2	2	1	7	1	2	0	7	1	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:44838993G>A	ENST00000372262.3	-	6	1639	c.1239C>T	c.(1237-1239)gtC>gtT	p.V413V	CDH22_ENST00000537909.1_Silent_p.V413V|CDH22_ENST00000474438.1_5'UTR	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	413	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCACCACGCCGACCAGGGAGC	0.771													A	44838993	G	A	44838993	2	1	592	1	0	0	0	0	0	0	0	1	3137	1045	37	1		1	CDH22	20	44838993	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2484021	44838993	18186527	566	49804											
SLC13A3	64849	broad.mit.edu	37	chr20	45217829	45217829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttctggtattcttccCgaattacagctcgagcccta	8	12	8	13	2	2	0	0	0	2	0	4	2	3	0	3	2	3	3	3	2	4	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:45217829C>T	ENST00000279027.4	-	7	1004	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SLC13A3_ENST00000413164.2_Missense_Mutation_p.R279Q|SLC13A3_ENST00000435032.1_5'UTR|SLC13A3_ENST00000396360.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000472148.1_Missense_Mutation_p.R282Q|SLC13A3_ENST00000372121.1_Missense_Mutation_p.R279Q|SLC13A3_ENST00000290317.5_Missense_Mutation_p.R282Q|SLC13A3_ENST00000495082.1_Missense_Mutation_p.R282Q	NM_001193342.1|NM_022829.5	NP_001180271.1|NP_073740.2	Q8WWT9	S13A3_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 3	329						integral to membrane|plasma membrane	high affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31		Myeloproliferative disorder(115;0.0122)			Succinic acid(DB00139)	GTATTCTTCCCGAATTACAGC	0.502													T	45217829	C	T	45217829	3	4	592	1	0	0	0	0	1	0	0	0	14487	652	23	1	850	1	SLC13A3	20	45217829	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	378836	45217829	17807691	567	49805											
PREX1	57580	broad.mit.edu	37	chr20	47266679	47266679	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaagtccaggccacacagCgggtggggctccaggggggc	8	3	18	12	1	0	1	0	0	0	1	2	1	2	1	3	7	1	1	3	7	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:47266679C>T	ENST00000396220.1	-	24	2905	c.2883G>A	c.(2881-2883)ccG>ccA	p.P961P	PREX1_ENST00000371941.3_Silent_p.P961P			Q8TCU6	PREX1_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 1	961					actin filament polymerization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|neutrophil activation|small GTPase mediated signal transduction|superoxide metabolic process	cytosol|plasma membrane	enzyme binding|phospholipid binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(27)|lung(53)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	110			BRCA - Breast invasive adenocarcinoma(12;0.0135)|Colorectal(8;0.198)			GGCCACACAGCGGGTGGGGCT	0.592													T	47266679	C	T	47266679	2	4	592	1	0	0	0	0	0	0	0	1	12562	755	27	1		1	PREX1	20	47266679	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2048850	47266679	15758841	568	49806											
SALL4	57167	broad.mit.edu	37	chr20	50400983	50400983	+	Frame_Shift_Del	DEL	C	C	-																															ggaaaccgggagggtaggaaCccccccactctggatcacag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:50400983delC	ENST00000217086.4	-	4	3094	c.2983delG	c.(2983-2985)gttfs	p.V995fs	SALL4_ENST00000371539.3_Frame_Shift_Del_p.V218fs|SALL4_ENST00000395997.3_Frame_Shift_Del_p.V558fs	NM_020436.3	NP_065169.1	Q9UJQ4	SALL4_HUMAN	spalt-like transcription factor 4	995					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(27)|ovary(5)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						AGGGTAGGAACCCCCCCACTC	0.562													-	50400983	C	-	50400983	7	5	592	1	0	1	0	1	0	0	0	0	13904	507	18	0	182	0	SALL4	20	50400983	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	3134304	50400983	12624537	569	49807											
ZNF831	128611	broad.mit.edu	37	chr20	57769140	57769140	+	Frame_Shift_Del	DEL	G	G	-																															gggagaaaaggggcacagttGgggggggacaagggggacag																								rs55786258	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:57769140delG	ENST00000371030.2	+	1	3066	c.3066delG	c.(3064-3066)ttgfs	p.L1022fs		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1022						intracellular	nucleic acid binding|zinc ion binding	p.D1025fs*9(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGCACAGTTGGGGGGGGACA	0.682													-	57769140	G	-	57769140	7	5	592	1	0	1	0	1	0	0	0	0	18284	1339	47	0	3068	0	ZNF831	20	57769140	Frame_Shift_Del	DEL	G	TCGA-HT-8564-01A-11D-2395-08	7368157	57769140	5256380	570	49808											
CDH4	1002	broad.mit.edu	37	chr20	60503309	60503309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcattgacatcaacgacaaCgcccctgagctgctgcccaa	11	7	7	16	2	2	2	2	2	0	0	2	3	2	2	3	0	5	2	3	0	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60503309C>T	ENST00000360469.5	+	12	1921	c.1833C>T	c.(1831-1833)aaC>aaT	p.N611N	CDH4_ENST00000543233.1_Silent_p.N537N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	611	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TCAACGACAACGCCCCTGAGC	0.627													T	60503309	C	T	60503309	2	4	592	1	0	0	0	0	0	0	0	1	3142	535	19	1		1	CDH4	20	60503309	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2734169	60503309	2522211	571	49809											
CDH4	1002	broad.mit.edu	37	chr20	60504690	60504690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actatgcccaactcagcttgCgcatcctgtacctggaggcc	8	9	9	15	1	1	0	1	0	0	0	2	1	2	1	4	2	5	3	4	2	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60504690C>T	ENST00000360469.5	+	13	2117	c.2029C>T	c.(2029-2031)Cgc>Tgc	p.R677C	CDH4_ENST00000543233.1_Missense_Mutation_p.R603C	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	677	Cadherin 5.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ACTCAGCTTGCGCATCCTGTA	0.532													T	60504690	C	T	60504690	3	4	592	1	0	0	0	0	1	0	0	0	3142	768	27	1	2079	1	CDH4	20	60504690	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1381	60504690	2520830	572	49810											
TAF4	6874	broad.mit.edu	37	chr20	60574065	60574065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctcatcaggatctcccGctcctgctcatccttcctct	4	13	5	19	1	5	0	3	0	2	0	9	1	8	1	5	1	2	2	5	1	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60574065G>A	ENST00000252996.4	-	12	2886	c.2887C>T	c.(2887-2889)Cgg>Tgg	p.R963W		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa						interspecies interaction between organisms|positive regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cytoplasm|MLL1 complex|transcription factor TFIID complex|transcription factor TFTC complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			AGGATCTCCCGCTCCTGCTCA	0.557													A	60574065	G	A	60574065	3	1	592	1	0	0	0	0	1	0	0	0	15623	1086	38	1	386	1	TAF4	20	60574065	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	69375	60574065	2451455	573	49811											
LAMA5	3911	broad.mit.edu	37	chr20	60905854	60905854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacagcggtggggggcCgaggtcggggtccagctggg	4	5	22	10	3	0	0	0	0	0	0	3	1	2	0	3	9	2	1	3	9	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:60905854C>T	ENST00000252999.3	-	30	3863	c.3797G>A	c.(3796-3798)cGg>cAg	p.R1266Q		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1266	Domain IV 1 (domain IV B).				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	GGTGGGGGGCCGAGGTCGGGG	0.697													T	60905854	C	T	60905854	3	4	592	1	0	0	0	0	1	0	0	0	8668	652	23	1	7494	1	LAMA5	20	60905854	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	331789	60905854	2119666	574	49812											
SLCO4A1	28231	broad.mit.edu	37	chr20	61288352	61288352	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtgctgcttatgggcacGgggtcgctggtgttcgcgct	2	11	18	10	5	0	0	0	0	0	0	2	0	0	0	0	5	2	6	0	5	1	2	rs147575435	by1000genomes	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:61288352G>A	ENST00000217159.1	+	2	751	c.546G>A	c.(544-546)acG>acA	p.T182T	SLCO4A1_ENST00000370507.1_Silent_p.T182T	NM_016354.3	NP_057438.3	Q96BD0	SO4A1_HUMAN	solute carrier organic anion transporter family, member 4A1	182					sodium-independent organic anion transport	integral to membrane|plasma membrane	thyroid hormone transmembrane transporter activity			endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(3)|prostate(2)	21	Breast(26;3.65e-08)		BRCA - Breast invasive adenocarcinoma(19;2.33e-06)			TTATGGGCACGGGGTCGCTGG	0.687													A	61288352	G	A	61288352	2	1	592	1	0	0	0	0	0	0	0	1	14823	1103	39	1		1	SLCO4A1	20	61288352	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	382498	61288352	1737168	575	49813											
TNFRSF6B	8771	broad.mit.edu	37	chr20	62328415	62328417	+	In_Frame_Del	DEL	GAG	GAG	-																															acgtcctctgcggggagcgtGaggaggaggcacgggcttgc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr20:62328415_62328417delGAG	ENST00000369996.1	+	1	395_397	c.295_297delGAG	c.(295-297)gagdel	p.E101del	RTEL1-TNFRSF6B_ENST00000482936.1_Stop_Codon_Del|RTEL1_ENST00000318100.4_Stop_Codon_Del	NM_003823.3	NP_003814.1	O95407	TNF6B_HUMAN	tumor necrosis factor receptor superfamily, member 6b, decoy	101					anti-apoptosis|apoptosis	extracellular region|soluble fraction	protein binding|receptor activity			central_nervous_system(1)|lung(2)|skin(1)	4	all_cancers(38;4.66e-12)|all_epithelial(29;2.56e-13)|Lung NSC(23;1.06e-08)|all_lung(23;3.34e-08)		Epithelial(9;1.78e-08)|all cancers(9;7.89e-08)|OV - Ovarian serous cystadenocarcinoma(5;0.00504)			CGGGGAGCGTGAGGAGGAGGCAC	0.67													-	62328417	GAG	-	62328415	7	5	592	1	0	1	0	1	0	0	0	0	16398	1291	45	0	297	0	TNFRSF6B	20	62328415	In_Frame_Del	DEL	GAG	TCGA-HT-8564-01A-11D-2395-08	1040063	62328415	697105	576	49814											
SON	6651	broad.mit.edu	37	chr21	34923567	34923567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtccctggaggtgccctCgacgacagcgctggaatcct	7	7	13	14	3	0	0	0	0	0	0	3	4	2	2	3	3	2	2	3	3	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:34923567C>T	ENST00000356577.4	+	3	2505	c.2030C>T	c.(2029-2031)tCg>tTg	p.S677L	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.S677L|SON_ENST00000381679.4_Missense_Mutation_p.S677L|SON_ENST00000300278.4_Missense_Mutation_p.S677L	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	677					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GAGGTGCCCTCGACGACAGCG	0.557													T	34923567	C	T	34923567	3	4	592	1	0	0	0	0	1	0	0	0	15020	893	31	1	2040	1	SON	21	34923567	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		34923567	13206328	577	49815											
PRDM15	63977	broad.mit.edu	37	chr21	43230535	43230535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgcttgcgccgcatgtgtCggctcatggaggccctggtg	3	10	17	11	3	1	0	1	0	0	0	2	1	1	1	2	5	2	3	2	5	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:43230535C>T	ENST00000422911.1	-	22	2899	c.2798G>A	c.(2797-2799)cGa>cAa	p.R933Q	PRDM15_ENST00000398548.1_Missense_Mutation_p.R913Q|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.R896Q|PRDM15_ENST00000269844.3_Missense_Mutation_p.R1242Q|PRDM15_ENST00000447207.2_Missense_Mutation_p.R876Q	NM_001282934.1	NP_001269863.1	P57071	PRD15_HUMAN	PR domain containing 15	1242					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCGCATGTGTCGGCTCATGGA	0.682													T	43230535	C	T	43230535	3	4	592	1	0	0	0	0	1	0	0	0	12542	884	31	1	814	1	PRDM15	21	43230535	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	8306968	43230535	4899360	578	49816											
ICOSLG	23308	broad.mit.edu	37	chr21	45651221	45651221	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagcctatggccaccgccacGaccacaagcaggcacaggac	12	2	10	17	2	0	0	0	0	0	0	0	2	0	1	5	3	2	2	5	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:45651221G>A	ENST00000407780.3	-	5	931	c.804C>T	c.(802-804)gtC>gtT	p.V268V	ICOSLG_ENST00000344330.4_Silent_p.V268V|ICOSLG_ENST00000400379.3_Silent_p.V268V|ICOSLG_ENST00000400377.3_Silent_p.V151V	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	268					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		CCACCGCCACGACCACAAGCA	0.567													A	45651221	G	A	45651221	2	1	592	1	0	0	0	0	0	0	0	1	7545	1045	37	1		1	ICOSLG	21	45651221	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2420686	45651221	2478674	579	49817											
SLC19A1	6573	broad.mit.edu	37	chr21	46951531	46951531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacaggccacccgcagggCgtgtcccagcttcccgcctg	5	5	11	20	3	0	0	0	0	0	0	2	0	2	0	6	2	1	2	6	2	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951531C>T	ENST00000311124.4	-	3	873	c.721G>A	c.(721-723)Gcc>Acc	p.A241T	SLC19A1_ENST00000485649.2_Missense_Mutation_p.A201T|SLC19A1_ENST00000380010.4_Missense_Mutation_p.A241T|SLC19A1_ENST00000567670.1_Missense_Mutation_p.A241T	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	241					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		ACCCGCAGGGCGTGTCCCAGC	0.716													T	46951531	C	T	46951531	3	4	592	1	0	0	0	0	1	0	0	0	14522	768	27	1	1070	1	SLC19A1	21	46951531	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1300310	46951531	1178364	580	49818											
SLC19A1	6573	broad.mit.edu	37	chr21	46951822	46951822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagcgcgcgggccgcaCgagagagaagatgtaggagg	10	4	19	8	5	0	3	0	0	0	3	0	6	0	4	1	4	1	3	1	4	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:46951822C>T	ENST00000311124.4	-	3	582	c.430G>A	c.(430-432)Gtg>Atg	p.V144M	SLC19A1_ENST00000485649.2_Missense_Mutation_p.V104M|SLC19A1_ENST00000380010.4_Missense_Mutation_p.V144M|SLC19A1_ENST00000567670.1_Missense_Mutation_p.V144M	NM_194255.2	NP_919231.1	P41440	S19A1_HUMAN	solute carrier family 19 (folate transporter), member 1	144					folic acid metabolic process	integral to plasma membrane|membrane fraction	folic acid binding|folic acid transporter activity|methotrexate transporter activity|reduced folate carrier activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|urinary_tract(1)	10				Colorectal(79;0.0569)|READ - Rectum adenocarcinoma(84;0.172)		GCGGGCCGCACGAGAGAGAAG	0.667													T	46951822	C	T	46951822	3	4	592	1	0	0	0	0	1	0	0	0	14522	536	19	1	1361	1	SLC19A1	21	46951822	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	291	46951822	1178073	581	49819											
COL6A1	1291	broad.mit.edu	37	chr21	47423450	47423450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacggaccccgcccacgaCgtgcgggtggcggtggtgca	6	4	18	13	6	0	0	0	0	0	0	0	3	0	2	3	6	2	1	3	6	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47423450C>T	ENST00000361866.3	+	35	2724	c.2610C>T	c.(2608-2610)gaC>gaT	p.D870D	COL6A1_ENST00000498614.1_3'UTR	NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	870	C-terminal globular domain.|VWFA 3.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCGCCCACGACGTGCGGGTGG	0.711													T	47423450	C	T	47423450	2	4	592	1	0	0	0	0	0	0	0	1	3730	535	19	1		1	COL6A1	21	47423450	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	471628	47423450	706445	582	49820											
DIP2A	23181	broad.mit.edu	37	chr21	47916995	47916995	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttctgtccttgtgcattcGtctgtggaaacctacacccc	6	13	8	14	2	2	0	0	0	2	0	4	1	3	1	4	1	3	2	4	1	2	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47916995G>A	ENST00000318711.7	+	4	561	c.378G>A	c.(376-378)tcG>tcA	p.S126S	DIP2A_ENST00000457905.3_Silent_p.S126S|DIP2A_ENST00000400274.1_Silent_p.S126S|DIP2A_ENST00000466639.1_Silent_p.S126S|DIP2A_ENST00000417564.2_Silent_p.S126S|DIP2A_ENST00000427143.2_Silent_p.S62S|DIP2A_ENST00000435722.3_Silent_p.S126S	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	126					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TTGTGCATTCGTCTGTGGAAA	0.453													A	47916995	G	A	47916995	2	1	592	1	0	0	0	0	0	0	0	1	4566	1132	40	1		1	DIP2A	21	47916995	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	493545	47916995	212900	583	49821											
DIP2A	23181	broad.mit.edu	37	chr21	47954526	47954527	+	Frame_Shift_Ins	INS	-	-	G																															agcaaagaaggcagtacggtINSgggggtcacagtgtcccacg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr21:47954526_47954527insG	ENST00000318711.7	+	13	1754_1755	c.1571_1572insG	c.(1570-1575)gtggggfs	p.VG524fs	DIP2A_ENST00000427143.2_Frame_Shift_Ins_p.VG459fs|DIP2A_ENST00000435722.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000466639.1_Frame_Shift_Ins_p.VG480fs|DIP2A_ENST00000457905.3_Frame_Shift_Ins_p.VG523fs|DIP2A_ENST00000400274.1_Frame_Shift_Ins_p.VG519fs|DIP2A_ENST00000417564.2_Frame_Shift_Ins_p.VG523fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	523					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		GGCAGTACGGTGGGGGTCACAG	0.535													G	47954527	-	G	47954526	7	5	592	1	0	1	1	0	0	0	0	0	4566	1696	59	0	1618	0	DIP2A	21	47954526	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	37531	47954526	175369	584	49822											
IL17RA	23765	broad.mit.edu	37	chr22	17589817	17589817	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcaggcagctccgcgccGccctggacaggttccgggac	5	4	16	16	5	0	0	0	0	0	0	2	2	2	2	4	5	1	4	4	5	0	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:17589817G>A	ENST00000319363.6	+	13	1841	c.1708G>A	c.(1708-1710)Gcc>Acc	p.A570T		NM_014339.5	NP_055154.3	Q96F46	I17RA_HUMAN	interleukin 17 receptor A	570					fibroblast activation|positive regulation of interleukin-23 production	integral to plasma membrane	interleukin-17 receptor activity			endometrium(2)|large_intestine(8)|lung(16)|ovary(1)|skin(2)|stomach(1)	30		all_epithelial(15;0.0181)|Lung NSC(13;0.109)|all_lung(157;0.132)		Colorectal(9;0.241)		GCTCCGCGCCGCCCTGGACAG	0.677													A	17589817	G	A	17589817	3	1	592	1	0	0	0	0	1	0	0	0	7697	1087	38	1	1758	1	IL17RA	22	17589817	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08		17589817	33714749	585	49823											
MICAL3	57553	broad.mit.edu	37	chr22	18387494	18387494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatggccagagatgcaagaCgttgttgcgggagaaggcat	12	7	16	6	2	0	3	0	0	0	3	0	6	0	3	1	3	2	4	1	3	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:18387494C>T	ENST00000441493.2	-	3	728	c.376G>A	c.(376-378)Gtc>Atc	p.V126I	MICAL3_ENST00000585038.1_Missense_Mutation_p.V126I|MICAL3_ENST00000429452.1_Missense_Mutation_p.V126I|MICAL3_ENST00000444520.1_Missense_Mutation_p.V126I|MICAL3_ENST00000207726.7_Missense_Mutation_p.V126I|MICAL3_ENST00000383094.3_Missense_Mutation_p.V126I|MICAL3_ENST00000400561.2_Missense_Mutation_p.V126I|MICAL3_ENST00000414725.2_Missense_Mutation_p.V126I	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	126						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		AGATGCAAGACGTTGTTGCGG	0.522													T	18387494	C	T	18387494	3	4	592	1	0	0	0	0	1	0	0	0	9646	536	19	1	6489	1	MICAL3	22	18387494	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	797677	18387494	32917072	586	49824											
ARVCF	421	broad.mit.edu	37	chr22	19960526	19960526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacactgtctgcagcacGtgtgacgccgccttcgcttc	5	10	9	17	4	1	1	0	1	1	0	4	1	2	1	3	0	2	3	3	0	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:19960526G>A	ENST00000263207.3	-	15	2763	c.2472C>T	c.(2470-2472)caC>caT	p.H824H	ARVCF_ENST00000344269.3_Silent_p.H761H|ARVCF_ENST00000406259.1_Silent_p.H818H|ARVCF_ENST00000401994.1_Silent_p.H761H|ARVCF_ENST00000406522.1_Silent_p.H755H	NM_001670.2	NP_001661.1	O00192	ARVC_HUMAN	armadillo repeat gene deleted in velocardiofacial syndrome	824					cell adhesion|multicellular organismal development		protein binding			NS(1)|cervix(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|urinary_tract(2)	13	Colorectal(54;0.0993)					TCTGCAGCACGTGTGACGCCG	0.672													A	19960526	G	A	19960526	2	1	592	1	0	0	0	0	0	0	0	1	1008	1136	40	1		1	ARVCF	22	19960526	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1573032	19960526	31344040	587	49825											
PI4KA	5297	broad.mit.edu	37	chr22	21082106	21082106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacggctcccgggtccaaccGaacgagacgggtcacttcgt	9	6	12	14	6	1	1	1	0	0	1	4	3	3	1	3	3	3	1	3	3	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:21082106G>A	ENST00000255882.6	-	40	4815	c.4729C>T	c.(4729-4731)Cgg>Tgg	p.R1577W	PI4KA_ENST00000572273.1_Missense_Mutation_p.R1519W|PI4KA_ENST00000414196.3_Missense_Mutation_p.R329W	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1519					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			GGGTCCAACCGAACGAGACGG	0.547													A	21082106	G	A	21082106	3	1	592	1	0	0	0	0	1	0	0	0	11950	1057	37	1	1643	1	PI4KA	22	21082106	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1121580	21082106	30222460	588	49826											
PPIL2	23759	broad.mit.edu	37	chr22	22048118	22048118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccccagcttcatcacgtttCgctcctgtgcctacctggac	5	12	7	17	2	2	0	2	0	0	0	5	1	4	1	5	1	3	3	5	1	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:22048118C>T	ENST00000335025.8	+	16	1244	c.1153C>T	c.(1153-1155)Cgc>Tgc	p.R385C	PPIL2_ENST00000412327.1_Missense_Mutation_p.R385C|PPIL2_ENST00000446951.1_3'UTR|PPIL2_ENST00000456792.2_Missense_Mutation_p.R364C|PPIL2_ENST00000406385.1_Missense_Mutation_p.R385C|PPIL2_ENST00000492445.2_Missense_Mutation_p.R385C|PPIL2_ENST00000398831.3_Missense_Mutation_p.R385C			Q13356	PPIL2_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 2		PPIase cyclophilin-type.				blood coagulation|leukocyte migration|protein folding|protein polyubiquitination	Golgi lumen|nucleus|ubiquitin ligase complex	peptidyl-prolyl cis-trans isomerase activity|ubiquitin-ubiquitin ligase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	17	Colorectal(54;0.105)					CATCACGTTTCGCTCCTGTGC	0.602													T	22048118	C	T	22048118	3	4	592	1	0	0	0	0	1	0	0	0	12409	884	31	1	1215	1	PPIL2	22	22048118	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	966012	22048118	29256448	589	49827											
CABIN1	23523	broad.mit.edu	37	chr22	24479228	24479228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatccacctctgaagacacGcacccttacaaggaggagct	12	6	9	14	1	1	2	0	1	1	1	2	4	2	4	3	2	2	3	3	2	3	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24479228G>A	ENST00000398319.2	+	20	3181	c.2796G>A	c.(2794-2796)acG>acA	p.T932T	CABIN1_ENST00000405822.2_Silent_p.T882T|CABIN1_ENST00000263119.5_Silent_p.T932T	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	932					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						CTGAAGACACGCACCCTTACA	0.582													A	24479228	G	A	24479228	2	1	592	1	0	0	0	0	0	0	0	1	2554	1074	38	1		1	CABIN1	22	24479228	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2431110	24479228	26825338	590	49828											
SUSD2	56241	broad.mit.edu	37	chr22	24581087	24581087	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaggcgctctggaccaacGaccacgcactggcctggcac	8	5	12	16	3	1	0	0	0	1	0	1	2	1	1	3	4	2	4	3	4	1	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:24581087G>A	ENST00000358321.3	+	6	1069	c.808G>A	c.(808-810)Gac>Aac	p.D270N		NM_019601.3	NP_062547.1	Q9UGT4	SUSD2_HUMAN	sushi domain containing 2	270					immune response	integral to membrane	polysaccharide binding|protein binding|scavenger receptor activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26						CTGGACCAACGACCACGCACT	0.672													A	24581087	G	A	24581087	3	1	592	1	0	0	0	0	1	0	0	0	15504	1058	37	1	830	1	SUSD2	22	24581087	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	101859	24581087	26723479	591	49829											
ADRBK2	157	broad.mit.edu	37	chr22	26118335	26118335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggctattgcgtcgtgcccCgaagttcctcaacaaacctc	8	9	9	15	4	1	0	1	0	0	0	4	1	2	0	4	1	4	2	4	1	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26118335C>T	ENST00000324198.6	+	21	2177	c.1985C>T	c.(1984-1986)cCg>cTg	p.P662L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2								ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	CGTCGTGCCCCGAAGTTCCTC	0.542													T	26118335	C	T	26118335	3	4	592	1	0	0	0	0	1	0	0	0	344	652	23	1	2067	1	ADRBK2	22	26118335	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	1537248	26118335	25186231	592	49830											
MYO18B	84700	broad.mit.edu	37	chr22	26164580	26164580	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggaactgtggcactgaaaAaaggcgaggagggtcaaagc	16	4	15	6	1	1	1	1	1	0	0	1	4	1	3	0	5	2	1	0	5	6	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:26164580A>G	ENST00000335473.7	+	4	947	c.697A>G	c.(697-699)Aaa>Gaa	p.K233E	MYO18B_ENST00000536101.1_Missense_Mutation_p.K233E|MYO18B_ENST00000407587.2_Missense_Mutation_p.K233E	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	233						nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGCACTGAAAAAAGGCGAGGA	0.617													G	26164580	A	G	26164580	3	3	592	1	0	0	0	0	1	0	0	0	10142	15	1	3	707	3	MYO18B	22	26164580	Missense_Mutation	SNP	A	TCGA-HT-8564-01A-11D-2395-08	46245	26164580	25139986	593	49831											
INPP5J	27124	broad.mit.edu	37	chr22	31522443	31522443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccacctgggcggtggtgaCgacagcgacggcgcagacat	8	5	15	13	5	0	2	0	1	0	1	1	4	1	2	2	4	1	1	2	4	0	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31522443C>T	ENST00000331075.5	+	3	1402	c.1353C>T	c.(1351-1353)gaC>gaT	p.D451D	INPP5J_ENST00000400294.2_Silent_p.D84D|INPP5J_ENST00000405300.1_Silent_p.D84D|INPP5J_ENST00000404390.3_Silent_p.D83D|INPP5J_ENST00000412277.2_Silent_p.D384D	NM_001284285.1	NP_001271214.1	Q15735	PI5PA_HUMAN	inositol polyphosphate-5-phosphatase J	451	Catalytic (Potential).					cytoplasm|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|SH3 domain binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(1)	12						GCGGTGGTGACGACAGCGACG	0.657													T	31522443	C	T	31522443	2	4	592	1	0	0	0	0	0	0	0	1	7817	535	19	1		1	INPP5J	22	31522443	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5357863	31522443	19782123	594	49832											
SFI1	9814	broad.mit.edu	37	chr22	31976293	31976293	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccctaaaagacaatgtgacCcacgctcatctccagcaaat	14	7	6	14	1	2	2	1	1	1	1	3	2	2	2	3	0	1	2	3	0	4	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:31976293C>A	ENST00000443326.1	+	10	1338	c.945C>A	c.(943-945)acC>acA	p.T315T	SFI1_ENST00000540643.1_Intron|SFI1_ENST00000432498.1_Intron|SFI1_ENST00000400289.1_Silent_p.T315T|SFI1_ENST00000443011.1_Silent_p.T244T|SFI1_ENST00000400288.2_Silent_p.T397T|SFI1_ENST00000414585.1_Silent_p.T244T	NM_001258326.1|NM_001258327.1	NP_001245255.1|NP_001245256.1	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	397					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						ACAATGTGACCCACGCTCATC	0.453													A	31976293	C	A	31976293	2	1	592	1	0	0	0	0	0	0	0	1	14249	610	22	4		4	SFI1	22	31976293	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	453850	31976293	19328273	595	49833											
SFI1	9814	broad.mit.edu	37	chr22	32000374	32000374	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcgtgctgcacagggCgctgcaggcatgggtggtag	7	6	18	10	2	0	0	0	0	0	0	0	0	0	0	0	4	4	7	0	4	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32000374C>T	ENST00000432498.1	+	18	2261	c.1868C>T	c.(1867-1869)gCg>gTg	p.A623V	SFI1_ENST00000540643.1_Missense_Mutation_p.A599V|SFI1_ENST00000443326.1_Missense_Mutation_p.A572V|SFI1_ENST00000400289.1_Missense_Mutation_p.A572V|SFI1_ENST00000443011.1_Missense_Mutation_p.A501V|SFI1_ENST00000400288.2_Missense_Mutation_p.A654V|SFI1_ENST00000414585.1_Missense_Mutation_p.A501V	NM_014775.3	NP_055590.2	A8K8P3	SFI1_HUMAN	Sfi1 homolog, spindle assembly associated (yeast)	654					G2/M transition of mitotic cell cycle	centriole|cytosol				NS(2)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)	38						CTGCACAGGGCGCTGCAGGCA	0.602											OREG0003526	type=REGULATORY REGION|Gene=SFI1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	32000374	C	T	32000374	3	4	592	1	0	0	0	0	1	0	0	0	14249	768	27	1	2031	1	SFI1	22	32000374	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	24081	32000374	19304192	596	49834											
YWHAH	7533	broad.mit.edu	37	chr22	32352168	32352170	+	In_Frame_Del	DEL	CTC	CTC	-																															tctccaatgaagatcgaaatCtcctctctgtggcctacaag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:32352168_32352170delCTC	ENST00000248975.5	+	2	403_405	c.130_132delCTC	c.(130-132)ctcdel	p.L45del	YWHAH_ENST00000471374.1_3'UTR|YWHAH_ENST00000397492.1_3'UTR	NM_003405.3	NP_003396.1	Q04917	1433F_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, eta polypeptide	45					glucocorticoid catabolic process|glucocorticoid receptor signaling pathway|intracellular protein transport|negative regulation of dendrite morphogenesis|positive regulation of transcription, DNA-dependent|regulation of synaptic plasticity	cytoplasm	enzyme binding|glucocorticoid receptor binding|insulin-like growth factor receptor binding|protein domain specific binding			breast(1)|central_nervous_system(1)|large_intestine(1)|upper_aerodigestive_tract(1)	4						AGATCGAAATCTCCTCTCTGTGG	0.438													-	32352170	CTC	-	32352168	7	5	592	1	0	1	0	1	0	0	0	0	17606	913	32	0	136	0	YWHAH	22	32352168	In_Frame_Del	DEL	CTC	TCGA-HT-8564-01A-11D-2395-08	351794	32352168	18952398	597	49835											
APOL5	80831	broad.mit.edu	37	chr22	36122590	36122590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatcctgggtttggccctaGcacctgtgacagcaggaggc	8	8	13	12	0	0	1	0	1	0	0	1	2	1	2	3	4	2	3	3	4	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:36122590G>A	ENST00000249044.2	+	3	475	c.475G>A	c.(475-477)Gca>Aca	p.A159T		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	159					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						TTTGGCCCTAGCACCTGTGAC	0.547													A	36122590	G	A	36122590	3	1	592	1	0	0	0	0	1	0	0	0	812	971	34	2	485	2	APOL5	22	36122590	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	3770422	36122590	15181976	598	49836											
CSF2RB	1439	broad.mit.edu	37	chr22	37333546	37333546	+	Frame_Shift_Del	DEL	C	C	-																															cagatctacccacagagcagCcccccagcccccagccaggc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37333546delC	ENST00000262825.5	+	14	1931	c.1714delC	c.(1714-1716)cccfs	p.P573fs	CSF2RB_ENST00000536485.1_Frame_Shift_Del_p.P514fs|CSF2RB_ENST00000406230.1_Frame_Shift_Del_p.P573fs|CSF2RB_ENST00000403662.3_Frame_Shift_Del_p.P567fs	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	567					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	CACAGAGCAGCCCCCCAGCCC	0.637													-	37333546	C	-	37333546	7	5	592	1	0	1	0	1	0	0	0	0	3968	739	26	0	1746	0	CSF2RB	22	37333546	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	1210956	37333546	13971020	599	49837											
ELFN2	114794	broad.mit.edu	37	chr22	37770333	37770333	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgcaggcagtagtacacGgctcccagcacgataaccat	11	7	10	13	3	0	0	0	0	0	0	1	1	1	0	2	2	4	6	2	2	3	4	rs144585839		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37770333G>A	ENST00000402918.2	-	3	2027	c.1242C>T	c.(1240-1242)gcC>gcT	p.A414A	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							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)					AGTAGTACACGGCTCCCAGCA	0.607													A	37770333	G	A	37770333	2	1	592	1	0	0	0	0	0	0	0	1	5099	1103	39	1		1	ELFN2	22	37770333	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	436787	37770333	13534233	600	49838											
MFNG	4242	broad.mit.edu	37	chr22	37882079	37882079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgtagcttagggggccccGggttcggctggctcagctcg	3	9	17	12	3	1	0	1	0	0	0	3	0	1	0	2	5	2	7	2	5	2	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:37882079G>A	ENST00000356998.3	-	1	360	c.137C>T	c.(136-138)cCg>cTg	p.P46L	MFNG_ENST00000416983.3_Missense_Mutation_p.P46L	NM_002405.3	NP_002396.2	O00587	MFNG_HUMAN	MFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase	46					pattern specification process	extracellular space|integral to Golgi membrane	O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase activity			large_intestine(2)|lung(2)|skin(1)	5	Melanoma(58;0.0574)					AGGGGGCCCCGGGTTCGGCTG	0.632													A	37882079	G	A	37882079	3	1	592	1	0	0	0	0	1	0	0	0	9600	1116	39	1	867	1	MFNG	22	37882079	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	111746	37882079	13422487	601	49839											
SH3BP1	23616	broad.mit.edu	37	chr22	38051660	38051660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctatcccccctcagccccGccccaggagccttgcctcag	6	6	8	21	1	2	0	2	0	0	0	3	1	3	1	9	1	4	1	9	1	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:38051660G>A	ENST00000357436.4	+	18	2388	c.2075G>A	c.(2074-2076)cGc>cAc	p.R692H	SH3BP1_ENST00000599616.1_Intron|Z83844.1_ENST00000456099.1_RNA	NM_018957.3	NP_061830.3	Q9Y3L3	3BP1_HUMAN	SH3-domain binding protein 1	692					signal transduction	cytoplasm	GTPase activator activity|SH3 domain binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Melanoma(58;0.0574)					CCTCAGCCCCGCCCCAGGAGC	0.677													A	38051660	G	A	38051660	3	1	592	1	0	0	0	0	1	0	0	0	14337	1087	38	1	2145	1	SH3BP1	22	38051660	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	169581	38051660	13252906	602	49840											
CACNA1I	8911	broad.mit.edu	37	chr22	40043868	40043868	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagatgaagggagacatctcGgaagccggcattgccagact	12	6	14	9	2	1	4	0	1	1	3	2	7	1	5	2	3	2	1	2	3	2	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40043868G>A	ENST00000336649.4	+	11	1504	c.1504G>A	c.(1504-1506)Gga>Aga	p.G502R	CACNA1I_ENST00000407673.1_Intron|CACNA1I_ENST00000402142.3_Missense_Mutation_p.G502R|CACNA1I_ENST00000401624.1_Missense_Mutation_p.G502R|CACNA1I_ENST00000400164.3_Intron|CACNA1I_ENST00000404898.1_Intron			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	502					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	gaGACATCTCGGAAGCCGGCA	0.562													A	40043868	G	A	40043868	3	1	592	1	0	0	0	0	1	0	0	0	2572	1117	39	1	1538	1	CACNA1I	22	40043868	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1992208	40043868	11260698	603	49841											
TNRC6B	23112	broad.mit.edu	37	chr22	40662440	40662440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaggggtggggaggtggaCgccagcccaatcaaggatgg	10	5	18	8	1	2	0	2	0	0	0	2	3	2	3	2	8	1	0	2	8	2	0			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40662440C>T	ENST00000454349.2	+	5	2417	c.2206C>T	c.(2206-2208)Cgc>Tgc	p.R736C	TNRC6B_ENST00000301923.9_Intron|TNRC6B_ENST00000402203.1_Intron|TNRC6B_ENST00000335727.9_Missense_Mutation_p.R736C	NM_001162501.1	NP_001155973.1	Q9UPQ9	TNR6B_HUMAN	trinucleotide repeat containing 6B	736					gene silencing by RNA|regulation of translation	cytoplasmic mRNA processing body	nucleotide binding|RNA binding			breast(1)	1						GGGAGGTGGACGCCAGCCCAA	0.502													T	40662440	C	T	40662440	3	4	592	1	0	0	0	0	1	0	0	0	16441	536	19	1	2345	1	TNRC6B	22	40662440	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	618572	40662440	10642126	604	49842											
SGSM3	27352	broad.mit.edu	37	chr22	40803287	40803287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgggaagccatcctgcgCgtggcacgccacttccagtg	6	7	12	16	4	0	0	0	0	0	0	3	1	3	1	5	2	2	1	5	2	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:40803287C>T	ENST00000248929.9	+	12	1512	c.1323C>T	c.(1321-1323)cgC>cgT	p.R441R	SGSM3_ENST00000454798.2_Silent_p.R374R	NM_015705.4	NP_056520.2	Q96HU1	SGSM3_HUMAN	small G protein signaling modulator 3	441					cell cycle arrest|Rap protein signal transduction	cytoplasm	Rab GTPase activator activity|Rab GTPase binding			cervix(1)|endometrium(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|skin(6)	19						CCATCCTGCGCGTGGCACGCC	0.617													T	40803287	C	T	40803287	2	4	592	1	0	0	0	0	0	0	0	1	14317	755	27	1		1	SGSM3	22	40803287	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	140847	40803287	10501279	605	49843											
L3MBTL2	83746	broad.mit.edu	37	chr22	41620136	41620136	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagtaatcgggggtcGcctacggctcctctacgagg	8	7	14	12	4	1	0	0	0	1	0	4	2	2	1	2	5	2	2	2	5	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:41620136G>A	ENST00000216237.5	+	9	1213	c.1055G>A	c.(1054-1056)cGc>cAc	p.R352H		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	352					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ATCGGGGGTCGCCTACGGCTC	0.607													A	41620136	G	A	41620136	3	1	592	1	0	0	0	0	1	0	0	0	8651	1087	38	1	1089	1	L3MBTL2	22	41620136	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	816849	41620136	9684430	606	49844											
FBLN1	2192	broad.mit.edu	37	chr22	45914668	45914668	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acggaatccaaagaatgcagGtacgtttgccagtggccact	12	8	11	10	2	0	1	0	0	0	1	1	2	1	2	3	3	3	3	3	3	4	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:45914668G>A	ENST00000348697.2	+	2	332		c.e2+1		FBLN1_ENST00000442170.2_Splice_Site|FBLN1_ENST00000327858.6_Splice_Site|FBLN1_ENST00000402984.3_Splice_Site|FBLN1_ENST00000262722.7_Splice_Site|FBLN1_ENST00000340923.5_Splice_Site			P23142	FBLN1_HUMAN	fibulin 1						interspecies interaction between organisms	extracellular space|soluble fraction	calcium ion binding|extracellular matrix structural constituent|protein binding			biliary_tract(1)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(1)	30		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		AAGAATGCAGGTACGTTTGCC	0.567													A	45914668	G	A	45914668	5	1	592	1	0	0	0	0	0	0	1	0	5747	1275	44	2	192	2	FBLN1	22	45914668	Splice_Site	SNP	G	TCGA-HT-8564-01A-11D-2395-08	4294532	45914668	5389898	607	49845											
CELSR1	9620	broad.mit.edu	37	chr22	46776725	46776725	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcagacaggcttggttcGctcctccacctccagcaggg	7	7	11	16	2	0	1	0	0	0	1	4	1	3	1	4	3	1	5	4	3	0	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46776725G>A	ENST00000262738.3	-	22	7215	c.7216C>T	c.(7216-7218)Cga>Tga	p.R2406*		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2406					central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		GGCTTGGTTCGCTCCTCCACC	0.667													A	46776725	G	A	46776725	4	1	592	1	0	0	0	0	0	1	0	0	3251	1095	38	1	1884	1	CELSR1	22	46776725	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	862057	46776725	4527841	608	49846											
CELSR1	9620	broad.mit.edu	37	chr22	46806347	46806347	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgtccacatttttgccGtcgactgacaggttccgcat	7	12	9	13	3	0	1	0	1	0	0	3	2	2	1	4	1	1	2	4	1	0	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:46806347G>A	ENST00000262738.3	-	7	4880	c.4881C>T	c.(4879-4881)gaC>gaT	p.D1627D		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	1627	Laminin G-like 1.				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CATTTTTGCCGTCGACTGACA	0.632													A	46806347	G	A	46806347	2	1	592	1	0	0	0	0	0	0	0	1	3251	1136	40	1		1	CELSR1	22	46806347	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	29622	46806347	4498219	609	49847											
TYMP	1890	broad.mit.edu	37	chr22	50967656	50967656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtccacaagctgctggCgccaggcctctggccactcc	5	8	11	17	1	1	0	0	0	1	0	3	0	3	0	5	3	2	3	5	3	1	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chr22:50967656C>T	ENST00000252029.3	-	3	488	c.326G>A	c.(325-327)cGc>cAc	p.R109H	TYMP_ENST00000395678.3_Missense_Mutation_p.R109H|TYMP_ENST00000395680.1_Missense_Mutation_p.R109H|TYMP_ENST00000395681.1_Missense_Mutation_p.R109H	NM_001113755.2|NM_001113756.2|NM_001257988.1|NM_001257989.1|NM_001953.4	NP_001107227.1|NP_001107228.1|NP_001244917.1|NP_001244918.1|NP_001944.1	P19971	TYPH_HUMAN	thymidine phosphorylase	109					angiogenesis|cell differentiation|chemotaxis|DNA replication|mitochondrial genome maintenance|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol	growth factor activity|platelet-derived growth factor receptor binding|pyrimidine-nucleoside phosphorylase activity|thymidine phosphorylase activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|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)	Capecitabine(DB01101)|Docetaxel(DB01248)|Floxuridine(DB00322)|Fluorouracil(DB00544)|Sulfasalazine(DB00795)|Tamoxifen(DB00675)	AAGCTGCTGGCGCCAGGCCTC	0.642													T	50967656	C	T	50967656	3	4	592	1	0	0	0	0	1	0	0	0	16913	768	27	1	1154	1	TYMP	22	50967656	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4161309	50967656	336910	610	49848											
ASMTL	8623	broad.mit.edu	37	chrX	1536976	1536976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatacgagggtactcaCgggccagctctcgggccagt	7	7	13	14	3	2	0	1	0	1	0	3	1	2	0	3	3	4	3	3	3	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:1536976C>T	ENST00000534940.1	-	11	1463	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	ASMTL_ENST00000416733.2_Missense_Mutation_p.R395H|ASMTL_ENST00000381333.4_Missense_Mutation_p.R455H|ASMTL_ENST00000381317.3_Missense_Mutation_p.R471H	NM_001173473.1	NP_001166944.1	O95671	ASML_HUMAN	acetylserotonin O-methyltransferase-like	471	ASMT-like.				melatonin biosynthetic process	cytoplasm	acetylserotonin O-methyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(9)|pancreas(1)|soft_tissue(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				AGGGTACTCACGGGCCAGCTC	0.612													T	1536976	C	T	1536976	3	4	592	1	0	0	0	0	1	0	0	0	1051	536	19	1	465	1	ASMTL	23	1536976	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08		1536976	153733584	611	49849											
SHROOM2	357	broad.mit.edu	37	chrX	9900853	9900853	+	Frame_Shift_Del	DEL	C	C	-																															ctccccctcgccccagttcgCcccccagaaactgacggaca																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:9900853delC	ENST00000380913.3	+	6	3620	c.3530delC	c.(3529-3531)gccfs	p.A1177fs	SHROOM2_ENST00000493668.1_3'UTR|SHROOM2_ENST00000418909.2_Frame_Shift_Del_p.A12fs	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1177					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCAGTTCGCCCCCCAGAAA	0.627													-	9900853	C	-	9900853	7	5	592	1	0	1	0	1	0	0	0	0	14388	739	26	0	3552	0	SHROOM2	23	9900853	Frame_Shift_Del	DEL	C	TCGA-HT-8564-01A-11D-2395-08	8363877	9900853	145369707	612	49850											
FANCB	2187	broad.mit.edu	37	chrX	14883271	14883271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcctagtttaaaactcaaaCgcatttcaaatttattagta	16	14	4	7	1	2	0	2	0	0	0	2	0	2	0	1	0	3	3	1	0	8	8	rs142289802	byFrequency	TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:14883271C>T	ENST00000398334.1	-	3	629	c.362G>A	c.(361-363)cGt>cAt	p.R121H	FANCB_ENST00000324138.3_Missense_Mutation_p.R121H	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	121					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					AAAACTCAAACGCATTTCAAA	0.313								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	14883271	C	T	14883271	3	4	592	1	0	0	0	0	1	0	0	0	5712	536	19	1	2249	1	FANCB	23	14883271	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	4982418	14883271	140387289	613	49851											
ACOT9	23597	broad.mit.edu	37	chrX	23723697	23723698	+	Frame_Shift_Ins	INS	-	-	A																															aaccaccaaagatccgattgINSaaaatgttccgctcctacag																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:23723697_23723698insA	ENST00000379303.5	-	13	1075_1076	c.947_948insT	c.(946-948)ttcfs	p.F316fs	ACOT9_ENST00000379295.1_Frame_Shift_Ins_p.F247fs|ACOT9_ENST00000336430.7_Frame_Shift_Ins_p.F307fs	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	307					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AGATCCGATTGAAAATGTTCCG	0.401													A	23723698	-	A	23723697	7	5	592	1	0	1	1	0	0	0	0	0	157	1281	45	0	414	0	ACOT9	23	23723697	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	8840426	23723697	131546863	614	49852											
MAGEB6	158809	broad.mit.edu	37	chrX	26212350	26212350	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatatgatgtggctgccaaCggccaagatgagaaaagtcc	15	7	11	8	1	0	3	0	2	0	2	1	4	1	3	3	2	2	1	3	2	6	1			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:26212350C>T	ENST00000379034.1	+	2	536	c.387C>T	c.(385-387)aaC>aaT	p.N129N		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	129	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						TGGCTGCCAACGGCCAAGATG	0.557													T	26212350	C	T	26212350	2	4	592	1	0	0	0	0	0	0	0	1	9254	535	19	1		1	MAGEB6	23	26212350	Silent	SNP	C	TCGA-HT-8564-01A-11D-2395-08	2488653	26212350	129058210	615	49853											
FAM47A	158724	broad.mit.edu	37	chrX	34149532	34149532	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccaggctctgtgggttcGtcagttgtcttctcccggcc	3	14	11	13	2	4	0	1	0	3	0	6	0	4	0	3	3	1	3	3	3	1	4			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:34149532G>A	ENST00000346193.3	-	1	915	c.864C>T	c.(862-864)gaC>gaT	p.D288D		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	288										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						CTGTGGGTTCGTCAGTTGTCT	0.577													A	34149532	G	A	34149532	2	1	592	1	0	0	0	0	0	0	0	1	5620	1136	40	1		1	FAM47A	23	34149532	Silent	SNP	G	TCGA-HT-8564-01A-11D-2395-08	7937182	34149532	121121028	616	49854											
RGN	9104	broad.mit.edu	37	chrX	46951573	46951573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccgggatgggatggaccccGagggtcttttgaggcaacct	7	8	15	11	2	1	1	0	1	1	0	1	5	1	4	4	5	1	1	4	5	1	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:46951573G>A	ENST00000397180.1	+	7	1777	c.808G>A	c.(808-810)Gag>Aag	p.E270K	RGN_ENST00000457380.1_Missense_Mutation_p.E198K|RGN_ENST00000336169.3_Missense_Mutation_p.E270K|RGN_ENST00000352078.4_Missense_Mutation_p.E270K	NM_152869.2	NP_690608.1	Q15493	RGN_HUMAN	regucalcin	270					cellular calcium ion homeostasis|positive regulation of ATPase activity|regulation of calcium-mediated signaling	cytoplasm|nucleus	calcium ion binding|enzyme regulator activity|gluconolactonase activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(1)	9						GATGGACCCCGAGGGTCTTTT	0.463													A	46951573	G	A	46951573	3	1	592	1	0	0	0	0	1	0	0	0	13370	1059	37	1	826	1	RGN	23	46951573	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	12802041	46951573	108318987	617	49855											
CACNA1F	778	broad.mit.edu	37	chrX	49088267	49088267	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgctgtgctggtttcttcGcttaggggtccctaggcctg	2	15	13	11	1	1	0	0	0	1	0	3	0	2	0	2	4	2	4	2	4	2	5			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:49088267G>A	ENST00000376265.2	-	2	209	c.148C>T	c.(148-150)Cga>Tga	p.R50*	CACNA1F_ENST00000376251.1_Intron|CACNA1F_ENST00000323022.5_Nonsense_Mutation_p.R50*	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	50					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGGTTTCTTCGCTTAGGGGTC	0.652													A	49088267	G	A	49088267	4	1	592	1	0	0	0	0	0	1	0	0	2569	1095	38	1	5973	1	CACNA1F	23	49088267	Nonsense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2136694	49088267	106182293	618	49856											
DGKK	139189	broad.mit.edu	37	chrX	50147116	50147116	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacattgcagtgctgggtccGgtggctgtaactggagtacc	8	10	14	9	1	0	0	0	0	0	0	1	1	1	1	2	4	5	5	2	4	3	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:50147116G>A	ENST00000376025.2	-	0	1068							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGCTGGGTCCGGTGGCTGTAA	0.438													A	50147116	G	A	50147116	1	1	592	0	1	0	0	0	0	0	0	0	4511	1115	39	1		1	DGKK	23	50147116	RNA	SNP	G	TCGA-HT-8564-01A-11D-2395-08	1058849	50147116	105123444	619	49857											
ARHGEF9	23229	broad.mit.edu	37	chrX	62857963	62857963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccagaatggtgactggctgCgcttgggttcggtgaactca	7	10	15	9	2	1	3	1	2	0	1	2	3	1	3	1	4	2	3	1	4	2	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:62857963C>T	ENST00000253401.6	-	10	2296	c.1496G>A	c.(1495-1497)cGc>cAc	p.R499H	ARHGEF9_ENST00000374872.1_Missense_Mutation_p.R478H|ARHGEF9_ENST00000433323.2_Missense_Mutation_p.R226H|ARHGEF9_ENST00000495564.1_5'UTR|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.R446H|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.R397H	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	499					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity	p.R497H(2)|p.R499H(1)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						TGACTGGCTGCGCTTGGGTTC	0.493													T	62857963	C	T	62857963	3	4	592	1	0	0	0	0	1	0	0	0	915	768	27	1	58	1	ARHGEF9	23	62857963	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	12710847	62857963	92412597	620	49858											
HEPH	9843	broad.mit.edu	37	chrX	65427138	65427138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggtacattcaggatccctcGgccaaggactggaccagaag	11	7	12	11	1	1	1	1	0	0	1	3	4	2	4	3	5	1	1	3	5	3	2			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:65427138G>A	ENST00000519389.1	+	14	2734	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	HEPH_ENST00000419594.1_Missense_Mutation_p.R609Q|HEPH_ENST00000343002.2_Missense_Mutation_p.R798Q|HEPH_ENST00000374727.3_Missense_Mutation_p.R801Q|HEPH_ENST00000441993.2_Missense_Mutation_p.R801Q|HEPH_ENST00000336279.5_Missense_Mutation_p.R531Q			Q9BQS7	HEPH_HUMAN	hephaestin	798	Plastocyanin-like 5.				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						AGGATCCCTCGGCCAAGGACT	0.478													A	65427138	G	A	65427138	3	1	592	1	0	0	0	0	1	0	0	0	7109	1116	39	1	2609	1	HEPH	23	65427138	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	2569175	65427138	89843422	621	49859											
ZMYM3	9203	broad.mit.edu	37	chrX	70464210	70464210	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggcatattttgactgcacCcagcacttccaagcattgac	10	12	7	12	0	0	2	0	2	0	0	1	2	1	2	2	1	3	4	2	1	2	6			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:70464210C>A	ENST00000373998.1	-	20	3883	c.3186G>T	c.(3184-3186)tgG>tgT	p.W1062C	ZMYM3_ENST00000373984.3_Missense_Mutation_p.W1076C|ZMYM3_ENST00000373988.1_Missense_Mutation_p.W1076C|ZMYM3_ENST00000353904.2_Missense_Mutation_p.W1074C|ZMYM3_ENST00000314425.5_Missense_Mutation_p.W1074C|ZMYM3_ENST00000489332.1_5'UTR	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	1074					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					TTGACTGCACCCAGCACTTCC	0.557													A	70464210	C	A	70464210	3	1	592	1	0	0	0	0	1	0	0	0	17802	624	22	4	914	4	ZMYM3	23	70464210	Missense_Mutation	SNP	C	TCGA-HT-8564-01A-11D-2395-08	5037072	70464210	84806350	622	49860											
POF1B	79983	broad.mit.edu	37	chrX	84563165	84563165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgtccaagctcctcccGtatgttgctaaatgtggaca	11	11	9	10	1	0	1	0	0	0	1	3	2	3	2	3	1	2	4	3	1	5	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:84563165G>A	ENST00000262753.4	-	10	1160	c.1015C>T	c.(1015-1017)Cgg>Tgg	p.R339W	POF1B_ENST00000373145.3_Missense_Mutation_p.R339W	NM_024921.3	NP_079197.3	Q8WVV4	POF1B_HUMAN	premature ovarian failure, 1B	339							actin binding	p.R339R(1)		central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)	35						AGCTCCTCCCGTATGTTGCTA	0.358													A	84563165	G	A	84563165	3	1	592	1	0	0	0	0	1	0	0	0	12259	1144	40	1	786	1	POF1B	23	84563165	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14098955	84563165	70707395	623	49861											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104999270	104999270	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagtttgctcttgaagtacTgccagatgtcctggaaaaac	11	11	10	9	0	1	2	0	1	1	1	2	3	2	3	2	1	4	4	2	1	4	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:104999270T>A	ENST00000372582.1	+	10	2048	c.1292T>A	c.(1291-1293)cTg>cAg	p.L431Q	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.L431Q|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	431	TIR.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CTTGAAGTACTGCCAGATGTC	0.378													A	104999270	T	A	104999270	3	1	592	1	0	0	0	0	1	0	0	0	7720	1580	55	5	1326	5	IL1RAPL2	23	104999270	Missense_Mutation	SNP	T	TCGA-HT-8564-01A-11D-2395-08	20436105	104999270	50271290	624	49862											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977803	-	C	107977802	7	5	592	1	0	1	1	0	0	0	0	0	7900	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	2978532	107977802	47292758	625	49863											
SLC6A14	11254	broad.mit.edu	37	chrX	115582769	115582770	+	Frame_Shift_Ins	INS	-	-	T																															cgtgtttgctggatttgctaINSttttttctatattgggacac																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:115582769_115582770insT	ENST00000371900.4	+	8	1181_1182	c.1093_1094insT	c.(1093-1095)attfs	p.I365fs		NM_007231.3	NP_009162.1	Q9UN76	S6A14_HUMAN	solute carrier family 6 (amino acid transporter), member 14	365					cellular amino acid metabolic process|response to toxin	integral to membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	23					L-Proline(DB00172)	TGGATTTGCTATTTTTTCTATA	0.332													T	115582770	-	T	115582769	7	5	592	1	0	1	1	0	0	0	0	0	14771	449	16	0	1123	0	SLC6A14	23	115582769	Frame_Shift_Ins	INS	-	TCGA-HT-8564-01A-11D-2395-08	7604967	115582769	39687791	626	49864											
USP26	83844	broad.mit.edu	37	chrX	132161205	132161205	+	Frame_Shift_Del	DEL	A	A	-																															tctatattataggtatctttAaaaaaaagtagccgtgccaa																								rs61758857		TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:132161205delA	ENST00000511190.1	-	6	1513	c.1044delT	c.(1042-1044)tttfs	p.F348fs	USP26_ENST00000406273.1_Frame_Shift_Del_p.F348fs|USP26_ENST00000370832.1_Frame_Shift_Del_p.F348fs	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	348					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	p.F348fs*7(1)		breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					AGGTATCTTTAAAAAAAAGTA	0.388													-	132161205	A	-	132161205	7	5	592	1	0	1	0	1	0	0	0	0	17159	359	13	0	1700	0	USP26	23	132161205	Frame_Shift_Del	DEL	A	TCGA-HT-8564-01A-11D-2395-08	16578436	132161205	23109355	627	49865											
ATP11C	286410	broad.mit.edu	37	chrX	138869332	138869334	+	Splice_Site	DEL	TCT	TCT	-																															tcaaacacagagctacttacTcttctatttcttttctttgg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:138869332_138869334delTCT	ENST00000370557.1	-	15	2617_2619	c.1590_1592delAGA	c.(1588-1593)gaagaa>gaa	p.530_531EE>E	ATP11C_ENST00000359686.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000327569.3_Splice_Site_p.533_534EE>E|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000361648.2_Splice_Site_p.533_534EE>E|ATP11C_ENST00000370543.1_Splice_Site_p.533_534EE>E			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	533					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					AGCTACTTACTCTTCTATTTCTT	0.345													-	138869334	TCT	-	138869332	8	5	592	1	0	1	0	1	0	0	1	0	1126	1565	54	0	1924	0	ATP11C	23	138869332	Splice_Site	DEL	TCT	TCGA-HT-8564-01A-11D-2395-08	6708127	138869332	16401228	628	49866											
GDI1	2664	broad.mit.edu	37	chrX	153670771	153670771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgatggttgtgagaGccaggtaagcagctcgtccc	9	10	13	9	1	0	3	0	3	0	1	2	4	1	3	2	2	3	4	2	2	1	3			TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153670771G>A	ENST00000447750.2	+	10	1522	c.1187G>A	c.(1186-1188)aGc>aAc	p.S396N	GDI1_ENST00000465640.1_3'UTR	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1	396					protein transport|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|midbody	GTPase activator activity|protein binding			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGTTGTGAGAGCCAGGTAAGC	0.612													A	153670771	G	A	153670771	3	1	592	1	0	0	0	0	1	0	0	0	6376	971	34	2	1225	2	GDI1	23	153670771	Missense_Mutation	SNP	G	TCGA-HT-8564-01A-11D-2395-08	14801439	153670771	1599789	629	49867											
FAM50A	9130	broad.mit.edu	37	chrX	153678435	153678437	+	In_Frame_Del	DEL	GGA	GGA	-																															ttgctcagtgacgccactgtGgagaaggatgaggtacagcg																										TCGA-HT-8564-01A-11D-2395-08	TCGA-HT-8564-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f41cf33f-58da-40f9-890d-cec026fe2f70	7bdf8707-ae9f-433e-837e-789e5883a173	g.chrX:153678435_153678437delGGA	ENST00000393600.3	+	11	998_1000	c.888_890delGGA	c.(886-891)gtggag>gtg	p.E297del		NM_004699.3	NP_004690.1	Q14320	FA50A_HUMAN	family with sequence similarity 50, member A	297					spermatogenesis	nucleus		p.E297*(1)		breast(2)|central_nervous_system(1)|lung(9)|ovary(2)|skin(1)	15	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCACTGTGGAGAAGGATGAG	0.616													-	153678437	GGA	-	153678435	7	5	592	1	0	1	0	1	0	0	0	0	5628	1335	47	0	930	0	FAM50A	23	153678435	In_Frame_Del	DEL	GGA	TCGA-HT-8564-01A-11D-2395-08	7664	153678435	1592125	630	49868											
RERE	473	broad.mit.edu	37	chr1	8415150	8415150	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttaacaaataaataacttaTaactgcttgtcaccttcttt	14	16	3	8	0	2	0	1	0	1	0	2	0	2	0	1	0	4	2	1	0	7	8			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:8415150T>G	ENST00000337907.3	-	24	5332	c.4698A>C	c.(4696-4698)ttA>ttC	p.L1566F	RERE_ENST00000400908.2_Missense_Mutation_p.L1566F|RERE_ENST00000377464.1_Missense_Mutation_p.L1298F|RERE_ENST00000476556.1_Missense_Mutation_p.L1012F|RERE_ENST00000400907.2_Missense_Mutation_p.L584F	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	1566					multicellular organismal development|NLS-bearing substrate import into nucleus	mitochondrion	poly-glutamine tract binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		AAATAACTTATAACTGCTTGT	0.438													G	8415150	T	G	8415150	3	3	593	1	0	0	0	0	1	0	0	0	13319	1403	49	5	6	5	RERE	1	8415150	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		8415150	240835471	1	49869											
EPHA8	2046	broad.mit.edu	37	chr1	22924293	22924293	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggacttcctgagcgaggcGtccatcatggggcaattcga	8	8	14	11	4	1	1	1	1	0	0	4	4	3	2	2	4	1	1	2	4	1	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:22924293G>A	ENST00000166244.3	+	11	2127	c.2055G>A	c.(2053-2055)gcG>gcA	p.A685A		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	685	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TGAGCGAGGCGTCCATCATGG	0.662													A	22924293	G	A	22924293	2	1	593	1	0	0	0	0	0	0	0	1	5214	1132	40	1		1	EPHA8	1	22924293	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	14509143	22924293	226326328	2	49870											
RUNX3	864	broad.mit.edu	37	chr1	25228881	25228881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtagaggtggtagggggacGggttggcctggaagggcccg	7	6	22	6	2	0	1	0	0	0	1	0	3	0	3	2	8	0	3	2	8	3	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:25228881G>A	ENST00000399916.1	-	6	1460	c.1022C>T	c.(1021-1023)cCg>cTg	p.P341L	RUNX3_ENST00000338888.3_Missense_Mutation_p.P341L|RUNX3_ENST00000540420.1_Missense_Mutation_p.P234L|RUNX3_ENST00000308873.6_Missense_Mutation_p.P327L	NM_001031680.2	NP_001026850.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	327	Pro/Ser/Thr-rich.				cell proliferation|induction of apoptosis|negative regulation of cell cycle|negative regulation of epithelial cell proliferation|protein phosphorylation|transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GTAGGGGGACGGGTTGGCCTG	0.692													A	25228881	G	A	25228881	3	1	593	1	0	0	0	0	1	0	0	0	13840	1116	39	1	271	1	RUNX3	1	25228881	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	2304588	25228881	224021740	3	49871											
IPO9	55705	broad.mit.edu	37	chr1	201824023	201824023	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagattctgcctattgttTggaacaccctaaccgagagt	11	11	9	10	1	1	2	0	0	1	2	1	4	1	3	3	1	4	2	3	1	3	5			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr1:201824023T>C	ENST00000361565.4	+	8	952	c.883T>C	c.(883-885)Tgg>Cgg	p.W295R		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	295					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						GCCTATTGTTTGGAACACCCT	0.448													C	201824023	T	C	201824023	3	2	593	1	0	0	0	0	1	0	0	0	7857	1812	63	3	913	3	IPO9	1	201824023	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	176595142	201824023	47426598	4	49872											
DYSF	8291	broad.mit.edu	37	chr2	71887771	71887771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctgcacgctggagcccGtatttggaaagtaaattggg	9	10	12	10	2	0	0	0	0	0	0	1	2	1	2	3	3	2	4	3	3	4	4	rs147056383	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:71887771G>A	ENST00000258104.3	+	44	5153	c.4876G>A	c.(4876-4878)Gta>Ata	p.V1626I	DYSF_ENST00000409582.3_Missense_Mutation_p.V1664I|DYSF_ENST00000409762.1_Missense_Mutation_p.V1643I|DYSF_ENST00000409744.1_Missense_Mutation_p.V1634I|DYSF_ENST00000409366.1_Missense_Mutation_p.V1648I|DYSF_ENST00000394120.2_Missense_Mutation_p.V1627I|DYSF_ENST00000409651.1_Missense_Mutation_p.V1658I|DYSF_ENST00000413539.2_Missense_Mutation_p.V1657I|DYSF_ENST00000410041.1_Missense_Mutation_p.V1644I|DYSF_ENST00000410020.3_Missense_Mutation_p.V1665I|DYSF_ENST00000429174.2_Missense_Mutation_p.V1647I|DYSF_ENST00000479049.2_3'UTR	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1626	C2 5.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCTGGAGCCCGTATTTGGAAA	0.507													A	71887771	G	A	71887771	3	1	593	1	0	0	0	0	1	0	0	0	4898	1145	40	1	5309	1	DYSF	2	71887771	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		71887771	171311602	5	49873											
COL4A4	1286	broad.mit.edu	37	chr2	227876966	227876966	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccaggagacccagggaCgccatccacacccctcctgc	9	3	10	19	1	0	1	0	0	0	1	2	3	2	2	7	3	1	0	7	3	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:227876966C>T	ENST00000396625.3	-	45	4471	c.4264G>A	c.(4264-4266)Gtc>Atc	p.V1422I	COL4A4_ENST00000329662.7_Missense_Mutation_p.V1419I	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1422	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		GACCCAGGGACGCCATCCACA	0.567													T	227876966	C	T	227876966	3	4	593	1	0	0	0	0	1	0	0	0	3724	536	19	1	824	1	COL4A4	2	227876966	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	155989195	227876966	15322407	6	49874											
SAG	6295	broad.mit.edu	37	chr2	234235841	234235841	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagaggacaaaatccccaaGaagtaagagtatggttgcgg	16	6	13	6	1	0	3	0	0	0	3	1	5	1	4	2	3	1	3	2	3	7	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr2:234235841G>C	ENST00000409110.1	+	7	740	c.510G>C	c.(508-510)aaG>aaC	p.K170N	SAG_ENST00000449594.2_Missense_Mutation_p.K36N	NM_000541.4	NP_000532.2	P10523	ARRS_HUMAN	S-antigen; retina and pineal gland (arrestin)	170					rhodopsin mediated phototransduction|rhodopsin mediated signaling pathway		protein phosphatase inhibitor activity			cervix(1)|kidney(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	9		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.018)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.054)		Epithelial(121;2.86e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00608)|Lung(119;0.00714)|GBM - Glioblastoma multiforme(43;0.207)		AAATCCCCAAGAAGTAAGAGT	0.552													C	234235841	G	C	234235841	3	2	593	1	0	0	0	0	1	0	0	0	13899	933	33	4	532	4	SAG	2	234235841	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	6358875	234235841	8963532	7	49875											
TTLL3	26140	broad.mit.edu	37	chr3	9870897	9870897	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctctatggcgctgacttcGtgttcggggaggacttccag	6	11	14	10	3	1	1	0	1	1	0	4	3	2	3	1	4	1	3	1	4	1	4			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:9870897G>A	ENST00000383827.1	+	4	3017	c.736G>A	c.(736-738)Gtg>Atg	p.V246M	TTLL3_ENST00000547186.1_Missense_Mutation_p.V458M|TTLL3_ENST00000455274.1_Missense_Mutation_p.V246M|TTLL3_ENST00000427853.3_Missense_Mutation_p.V246M|TTLL3_ENST00000426895.4_Missense_Mutation_p.V601M|TTLL3_ENST00000397241.1_Missense_Mutation_p.V246M|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.V519M|TTLL3_ENST00000430793.1_Missense_Mutation_p.V246M|TTLL3_ENST00000466245.1_3'UTR			Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	458	TTL.				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CGCTGACTTCGTGTTCGGGGA	0.617													A	9870897	G	A	9870897	3	1	593	1	0	0	0	0	1	0	0	0	16830	1145	40	1	1406	1	TTLL3	3	9870897	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9870897	188151533	8	49876											
ZNF654	55279	broad.mit.edu	37	chr3	88189554	88189554	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acaaactattagtctgccagTttctactagcaaatcaagga	15	11	6	9	0	3	0	1	0	2	0	3	1	3	1	1	1	4	2	1	1	7	5			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:88189554T>C	ENST00000309495.5	+	1	1301	c.1094T>C	c.(1093-1095)gTt>gCt	p.V365A	CGGBP1_ENST00000462901.1_Intron	NM_018293.2	NP_060763.2	Q8IZM8	ZN654_HUMAN	zinc finger protein 654	365					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(3)	12		Lung NSC(201;0.0283)		UCEC - Uterine corpus endometrioid carcinoma (27;0.194)|LUSC - Lung squamous cell carcinoma(29;0.00353)|Lung(72;0.00661)		AGTCTGCCAGTTTCTACTAGC	0.358													C	88189554	T	C	88189554	3	2	593	1	0	0	0	0	1	0	0	0	18168	1725	60	3	1096	3	ZNF654	3	88189554	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08	78318657	88189554	109832876	9	49877											
HRG	3273	broad.mit.edu	37	chr3	186383868	186383868	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatcacattgcagtattcGtgtgccgtgagtcccactga	8	13	10	10	2	1	3	1	3	0	0	3	3	2	3	2	0	2	2	2	0	1	4			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr3:186383868G>A	ENST00000232003.4	+	1	128	c.48G>A	c.(46-48)tcG>tcA	p.S16S	HRG_ENST00000468154.1_3'UTR	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	16					fibrinolysis|platelet activation|platelet degranulation	extracellular region|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		TGCAGTATTCGTGTGCCGTGA	0.468													A	186383868	G	A	186383868	2	1	593	1	0	0	0	0	0	0	0	1	7409	1132	40	1		1	HRG	3	186383868	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	98194314	186383868	11638562	10	49878											
SLC2A9	56606	broad.mit.edu	37	chr4	9987317	9987317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctatgcccatgatgaagcGtcccacgatgagcatttcaa	12	10	8	11	2	2	3	1	3	1	0	3	4	3	3	2	0	3	1	2	0	3	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:9987317G>A	ENST00000506583.1	-	6	641	c.424C>T	c.(424-426)Cgc>Tgc	p.R142C	SLC2A9_ENST00000309065.3_Missense_Mutation_p.R142C|SLC2A9_ENST00000264784.3_Missense_Mutation_p.R171C			Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	171					glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						ATGATGAAGCGTCCCACGATG	0.517													A	9987317	G	A	9987317	3	1	593	1	0	0	0	0	1	0	0	0	14646	1145	40	1	1147	1	SLC2A9	4	9987317	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		9987317	181166959	11	49879											
MUC7	4589	broad.mit.edu	37	chr4	71347534	71347534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggccaaaataaaatttctcGatttcttttatatatgaaga	15	16	5	5	1	2	2	0	1	2	1	3	3	2	2	1	1	0	0	1	1	8	7	rs145866670		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:71347534G>A	ENST00000413702.1	+	4	1361	c.1073G>A	c.(1072-1074)cGa>cAa	p.R358Q	MUC7_ENST00000456088.1_Missense_Mutation_p.R358Q|MUC7_ENST00000304887.5_Missense_Mutation_p.R358Q	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	358						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			AAAATTTCTCGATTTCTTTTA	0.358													A	71347534	G	A	71347534	3	1	593	1	0	0	0	0	1	0	0	0	10057	1058	37	1	1079	1	MUC7	4	71347534	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	61360217	71347534	119806742	12	49880											
FRAS1	80144	broad.mit.edu	37	chr4	79387412	79387412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccacgccatggcaccatCgagcgaaccagcaatgggca	11	4	10	16	3	0	0	0	0	0	0	2	2	1	0	5	2	3	3	5	2	2	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr4:79387412C>T	ENST00000264895.6	+	50	7520	c.7080C>T	c.(7078-7080)atC>atT	p.I2360I		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2359					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ATGGCACCATCGAGCGAACCA	0.547													T	79387412	C	T	79387412	2	4	593	1	0	0	0	0	0	0	0	1	6093	874	31	1		1	FRAS1	4	79387412	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	8039878	79387412	111766864	13	49881											
SLC6A19	340024	broad.mit.edu	37	chr5	1217005	1217005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcaacgcctccgaccccgCggcctacgcgcagctggtgt	5	6	13	17	6	0	0	0	0	0	0	1	1	1	0	5	2	4	3	5	2	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:1217005C>T	ENST00000304460.10	+	8	1174	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	373					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity	p.A373V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			TCCGACCCCGCGGCCTACGCG	0.622													T	1217005	C	T	1217005	3	4	593	1	0	0	0	0	1	0	0	0	14776	768	27	1	1148	1	SLC6A19	5	1217005	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1217005	179698255	14	49882											
ADAMTS16	170690	broad.mit.edu	37	chr5	5222929	5222929	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtaaagccctgtggtgccatCgtattggaaggaaatgtgag	11	10	14	6	1	0	1	0	1	0	0	1	3	0	3	2	3	2	2	2	3	5	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:5222929C>T	ENST00000274181.7	+	11	1771	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C	ADAMTS16_ENST00000511368.1_Missense_Mutation_p.R545C	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	545	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						GTGGTGCCATCGTATTGGAAG	0.368													T	5222929	C	T	5222929	3	4	593	1	0	0	0	0	1	0	0	0	261	884	31	1	1675	1	ADAMTS16	5	5222929	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	4005924	5222929	175692331	15	49883											
PCDHA1	56147	broad.mit.edu	37	chr5	140166983	140166983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccactcagcaccgtcatcGccctcatcaccgtgtctgac	7	9	6	19	3	5	1	4	1	1	0	7	1	6	1	4	0	1	1	4	0	0	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140166983G>A	ENST00000504120.2	+	1	1108	c.1108G>A	c.(1108-1110)Gcc>Acc	p.A370T	PCDHA1_ENST00000394633.3_Missense_Mutation_p.A370T|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A370T	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTCATCGCCCTCATCAC	0.527													A	140166983	G	A	140166983	3	1	593	1	0	0	0	0	1	0	0	0	11595	1087	38	1	1110	1	PCDHA1	5	140166983	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	134944054	140166983	40748277	16	49884											
PCDHAC2	56134	broad.mit.edu	37	chr5	140348188	140348188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aagtcatagctatggactcaGactctgggcaaaatgcttgg	12	10	11	8	0	3	1	2	0	1	1	3	2	3	2	0	3	2	3	0	3	5	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:140348188G>A	ENST00000289269.5	+	1	2369	c.1837G>A	c.(1837-1839)Gac>Aac	p.D613N	PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		613	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TATGGACTCAGACTCTGGGCA	0.512													A	140348188	G	A	140348188	3	1	593	1	0	0	0	0	1	0	0	0	11609	942	33	2	1839	2	PCDHAC2	5	140348188	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	181205	140348188	40567072	17	49885											
GABRA6	2559	broad.mit.edu	37	chr5	161113291	161113291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacttctactcagaaaacGtcagtcggatcctggacaac	13	8	8	12	2	3	1	2	0	1	1	5	3	4	3	1	2	4	1	1	2	5	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:161113291G>A	ENST00000523217.1	+	2	336	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	GABRA6_ENST00000522269.1_3'UTR|GABRA6_ENST00000274545.5_Missense_Mutation_p.V32I	NM_000811.2	NP_000802.2	Q16445	GBRA6_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 6	32					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|liver(2)|lung(22)|ovary(7)|skin(6)|urinary_tract(2)	57	Renal(175;0.00259)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	CTCAGAAAACGTCAGTCGGAT	0.488										TCGA Ovarian(5;0.080)			A	161113291	G	A	161113291	3	1	593	1	0	0	0	0	1	0	0	0	6217	1145	40	1	100	1	GABRA6	5	161113291	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	20765103	161113291	19801969	18	49886											
OR2V2	285659	broad.mit.edu	37	chr5	180582042	180582042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctcttctccgtggttatgGcggtcttcacagtggccctc	3	14	10	14	2	4	0	1	0	3	0	7	0	5	0	3	4	0	1	3	4	1	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr5:180582042G>A	ENST00000328275.1	+	1	100	c.100G>A	c.(100-102)Gcg>Acg	p.A34T		NM_206880.1	NP_996763.1	Q96R30	OR2V2_HUMAN	olfactory receptor, family 2, subfamily V, member 2	34			A -> V (in dbSNP:rs17617270).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(89;8.26e-06)|all_epithelial(37;1.02e-06)|Renal(175;0.000159)|Lung NSC(126;0.00354)|all_lung(126;0.00609)|Breast(19;0.0684)	all_cancers(40;0.0103)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.0652)|all_lung(500;0.149)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGTGGTTATGGCGGTCTTCAC	0.537													A	180582042	G	A	180582042	3	1	593	1	0	0	0	0	1	0	0	0	11107	1203	42	2	102	2	OR2V2	5	180582042	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	19468751	180582042	333218	19	49887											
SOX4	6659	broad.mit.edu	37	chr6	21594838	21594838	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagctcggactcgggcgccGgcctcgagctgggaatcgcc	6	5	16	14	6	0	1	0	0	0	1	4	4	0	3	3	4	2	2	3	4	1	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:21594838G>T	ENST00000244745.1	+	1	867	c.73G>T	c.(73-75)Ggc>Tgc	p.G25C	SOX4_ENST00000543472.1_Missense_Mutation_p.G25C	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	25					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CTCGGGCGCCGGCCTCGAGCT	0.731													T	21594838	G	T	21594838	3	4	593	1	0	0	0	0	1	0	0	0	15047	1116	39	4	75	4	SOX4	6	21594838	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		21594838	149520229	20	49888											
MICB	4277	broad.mit.edu	37	chr6	31473467	31473467	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtcagggtttctcgctgaGggacatctggatggtcagcc	7	10	14	10	1	4	1	2	1	2	0	5	3	4	3	1	4	1	2	1	4	0	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:31473467G>A	ENST00000252229.6	+	2	223	c.144G>A	c.(142-144)gaG>gaA	p.E48E	MICB_ENST00000399150.3_Silent_p.E48E|MICB_ENST00000538442.1_Silent_p.E16E	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	48					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						TTCTCGCTGAGGGACATCTGG	0.557													A	31473467	G	A	31473467	2	1	593	1	0	0	0	0	0	0	0	1	9650	991	35	2		2	MICB	6	31473467	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	9878629	31473467	139641600	21	49889											
SNAP91	9892	broad.mit.edu	37	chr6	84284808	84284808	+	Frame_Shift_Del	DEL	T	T	-																															agttggctccaccagtcaacTttttctctccagcattccac																										TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr6:84284808delT	ENST00000428679.2	-	26	2956	c.2363delA	c.(2362-2364)aagfs	p.K788fs	SNAP91_ENST00000520213.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000521743.1_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000369694.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000437520.1_Frame_Shift_Del_p.K481fs|SNAP91_ENST00000521485.1_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000439399.2_Frame_Shift_Del_p.K788fs|SNAP91_ENST00000195649.6_Frame_Shift_Del_p.K783fs|SNAP91_ENST00000520302.1_Frame_Shift_Del_p.K758fs			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	788					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		ACCAGTCAACTTTTTCTCTCC	0.453													-	84284808	T	-	84284808	7	5	593	1	0	1	0	1	0	0	0	0	14927	1609	56	0	376	0	SNAP91	6	84284808	Frame_Shift_Del	DEL	T	TCGA-HT-A4DS-01A-11D-A26M-08	52811341	84284808	86830259	22	49890											
PKD1L1	168507	broad.mit.edu	37	chr7	47851503	47851503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgaggggacgagactccccGtagggaggatctccactctc	9	7	13	12	2	2	2	0	1	2	1	5	6	3	5	3	4	0	1	3	4	1	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr7:47851503G>A	ENST00000289672.2	-	50	7543	c.7493C>T	c.(7492-7494)aCg>aTg	p.T2498M	C7orf69_ENST00000418326.2_Intron|C7orf69_ENST00000258776.4_Intron	NM_138295.3	NP_612152.1	Q8TDX9	PK1L1_HUMAN	polycystic kidney disease 1 like 1	2498					cell-cell adhesion	integral to membrane			BBS9/PKD1L1(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(27)|lung(44)|ovary(12)|prostate(5)|skin(8)|stomach(4)|upper_aerodigestive_tract(5)	142						GAGACTCCCCGTAGGGAGGAT	0.582													A	47851503	G	A	47851503	3	1	593	1	0	0	0	0	1	0	0	0	12041	1145	40	1	1088	1	PKD1L1	7	47851503	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		47851503	111287160	23	49891											
RP1L1	94137	broad.mit.edu	37	chr8	10470654	10470654	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctccacggacaggctgccGtcctcattcatgcggacctt	7	10	9	15	3	3	0	2	0	1	0	5	2	4	2	4	3	2	1	4	3	0	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr8:10470654G>A	ENST00000382483.3	-	4	1177	c.954C>T	c.(952-954)gaC>gaT	p.D318D		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	318					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		ACAGGCTGCCGTCCTCATTCA	0.662													A	10470654	G	A	10470654	2	1	593	1	0	0	0	0	0	0	0	1	13624	1136	40	1		1	RP1L1	8	10470654	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		10470654	135893368	24	49892											
LRRC32	2615	broad.mit.edu	37	chr11	76371628	76371628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcacagggaggtcaggtGctcaagaaagctgtcgggga	12	5	17	7	1	2	1	2	0	0	1	3	4	2	3	0	5	3	3	0	5	3	0			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr11:76371628G>T	ENST00000407242.2	-	3	1251	c.1009C>A	c.(1009-1011)Cac>Aac	p.H337N	LRRC32_ENST00000404995.1_Missense_Mutation_p.H337N|LRRC32_ENST00000464145.1_Intron|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000260061.5_Missense_Mutation_p.H337N	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	337						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTCAGGTGCTCAAGAAAG	0.587													T	76371628	G	T	76371628	3	4	593	1	0	0	0	0	1	0	0	0	9057	1319	46	4	983	4	LRRC32	11	76371628	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		76371628	58634888	25	49893											
LTA4H	4048	broad.mit.edu	37	chr12	96410892	96410892	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agatatttcatgtgcaatgaCctaaagaaaacagtgtgatt	16	12	8	5	0	1	4	1	2	0	2	1	4	1	4	1	0	2	1	1	0	6	4			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:96410892C>G	ENST00000228740.2	-	10	1018	c.877G>C	c.(877-879)Gtc>Ctc	p.V293L	LTA4H_ENST00000413268.2_Splice_Site_p.V269L|LTA4H_ENST00000552789.1_Splice_Site_p.V269L	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	293					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGTGCAATGACCTAAAGAAAA	0.299													G	96410892	C	G	96410892	5	3	593	1	0	0	0	0	0	0	1	0	9139	521	18	4	998	4	LTA4H	12	96410892	Splice_Site	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		96410892	37441003	26	49894											
TDG	6996	broad.mit.edu	37	chr12	104374741	104374741	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggacctggaaaccatttttGtaagtggttaccttttaaat	11	16	8	6	0	0	0	0	0	0	0	0	2	0	2	3	3	2	2	3	3	5	6			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr12:104374741G>T	ENST00000392872.3	+	4	712		c.e4+1		TDG_ENST00000266775.9_Splice_Site|TDG_ENST00000542036.1_Splice_Site|TDG_ENST00000544861.1_Splice_Site	NM_003211.4	NP_003202.3	Q13569	TDG_HUMAN	thymine-DNA glycosylase						depyrimidination|mismatch repair	nucleoplasm	damaged DNA binding|mismatched DNA binding|protein binding|pyrimidine-specific mismatch base pair DNA N-glycosylase activity			large_intestine(2)|lung(14)|ovary(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(302;0.00114)		AACCATTTTTGTAAGTGGTTA	0.318								Base excision repair (BER), DNA glycosylases					T	104374741	G	T	104374741	5	4	593	1	0	0	0	0	0	0	1	0	15825	1391	48	4	493	4	TDG	12	104374741	Splice_Site	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	7963849	104374741	29477154	27	49895											
PCNX	22990	broad.mit.edu	37	chr14	71444691	71444691	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggggatgttcgacctaaatCttctagcgtaatccatcgga	11	11	10	9	3	2	0	0	0	2	0	5	3	3	2	2	3	1	2	2	3	4	5			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:71444691C>T	ENST00000304743.2	+	6	2083	c.1637C>T	c.(1636-1638)tCt>tTt	p.S546F	PCNX_ENST00000439984.3_Missense_Mutation_p.S546F|PCNX_ENST00000238570.5_Missense_Mutation_p.S546F	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	546						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CGACCTAAATCTTCTAGCGTA	0.468													T	71444691	C	T	71444691	3	4	593	1	0	0	0	0	1	0	0	0	11667	913	32	2	1659	2	PCNX	14	71444691	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		71444691	35904849	28	49896											
DYNC1H1	1778	broad.mit.edu	37	chr14	102474561	102474561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgccaggtgggtgcctgggGctgctttgacgagttcaacc	5	11	15	10	1	1	1	1	1	0	0	1	2	1	1	3	4	4	3	3	4	1	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr14:102474561G>T	ENST00000360184.4	+	29	6028	c.5864G>T	c.(5863-5865)gGc>gTc	p.G1955V		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1955	AAA 1 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGTGCCTGGGGCTGCTTTGAC	0.587													T	102474561	G	T	102474561	3	4	593	1	0	0	0	0	1	0	0	0	4880	1203	42	4	5978	4	DYNC1H1	14	102474561	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	31029870	102474561	4874979	29	49897											
OTUD7A	161725	broad.mit.edu	37	chr15	31776380	31776380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccggcgaagatgaacttgCgctccccctgcatggcggcg	6	6	15	14	5	0	2	0	1	0	1	1	3	1	2	3	4	3	2	3	4	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr15:31776380C>T	ENST00000382902.1	-	11	2011	c.1919G>A	c.(1918-1920)cGc>cAc	p.R640H	OTUD7A_ENST00000307050.4_Missense_Mutation_p.R633H			Q8TE49	OTU7A_HUMAN	OTU domain containing 7A	633						cytoplasm|nucleus	cysteine-type peptidase activity|DNA binding|zinc ion binding			endometrium(7)|large_intestine(4)|lung(11)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	30		all_lung(180;1.6e-09)		all cancers(64;2.44e-19)|Epithelial(43;6.82e-14)|GBM - Glioblastoma multiforme(186;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00189)|Lung(196;0.208)		GATGAACTTGCGCTCCCCCTG	0.672													T	31776380	C	T	31776380	3	4	593	1	0	0	0	0	1	0	0	0	11394	768	27	1	886	1	OTUD7A	15	31776380	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		31776380	70755012	30	49898											
HIRIP3	8479	broad.mit.edu	37	chr16	30006466	30006466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctttttctctccgggtcgcTacaaggggtgggaggcctct	4	12	13	12	2	2	0	0	0	2	0	5	1	3	1	3	5	1	1	3	5	2	3			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr16:30006466T>C	ENST00000279392.3	-	3	1089	c.259A>G	c.(259-261)Agc>Ggc	p.S87G	HIRIP3_ENST00000566471.1_Intron|HIRIP3_ENST00000564026.1_Missense_Mutation_p.S87G	NM_003609.4	NP_003600.2	Q9BW71	HIRP3_HUMAN	HIRA interacting protein 3	87					chromatin assembly or disassembly	nucleus	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(1)|lung(9)	17						TCCGGGTCGCTACAAGGGGTG	0.552													C	30006466	T	C	30006466	3	2	593	1	0	0	0	0	1	0	0	0	7176	1522	53	3	1431	3	HIRIP3	16	30006466	Missense_Mutation	SNP	T	TCGA-HT-A4DS-01A-11D-A26M-08		30006466	60348287	31	49899											
SPNS3	201305	broad.mit.edu	37	chr17	4356345	4356345	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaccatcatgaccggcGtcattggggtcatcttgggg	7	10	13	11	2	4	2	3	2	1	0	4	2	4	2	2	5	0	0	2	5	0	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:4356345G>A	ENST00000355530.2	+	8	1238	c.958G>A	c.(958-960)Gtc>Atc	p.V320I	SPNS3_ENST00000333476.2_Missense_Mutation_p.V193I|SPNS3_ENST00000576069.1_3'UTR	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	320					lipid transport|transmembrane transport	integral to membrane		p.V320I(1)		NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CATGACCGGCGTCATTGGGGT	0.572													A	4356345	G	A	4356345	3	1	593	1	0	0	0	0	1	0	0	0	15172	1145	40	1	988	1	SPNS3	17	4356345	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		4356345	76838865	32	49900											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	593	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	3220775	7577120	73618090	33	49901											
NF1	4763	broad.mit.edu	37	chr17	29527568	29527569	+	Frame_Shift_Del	DEL	CT	CT	-																															tacatcaattgggaagataaCtctgtcattttcctacttgt																										TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:29527568_29527569delCT	ENST00000358273.4	+	9	1400_1401	c.1017_1018delCT	c.(1015-1020)aactctfs	p.S340fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.S340fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.S340fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	340					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GGGAAGATAACTCTGTCATTTT	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29527569	CT	-	29527568	7	5	593	1	0	1	0	1	0	0	0	0	10432	564	20	0	1051	0	NF1	17	29527568	Frame_Shift_Del	DEL	CT	TCGA-HT-A4DS-01A-11D-A26M-08	21950448	29527568	51667642	34	49902											
LRRC59	55379	broad.mit.edu	37	chr17	48465454	48465454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagccgccgctgcctctcccGctcctgatctgcctgcacgg	3	8	10	20	4	2	1	0	1	2	0	4	1	3	1	6	1	4	3	6	1	0	0	rs140038553		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr17:48465454G>A	ENST00000225972.7	-	5	704	c.469C>T	c.(469-471)Cgg>Tgg	p.R157W		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	157						endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial nucleoid	protein binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			TGCCTCTCCCGCTCCTGATCT	0.527													A	48465454	G	A	48465454	3	1	593	1	0	0	0	0	1	0	0	0	9085	1086	38	1	466	1	LRRC59	17	48465454	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18937886	48465454	32729756	35	49903											
ST8SIA5	29906	broad.mit.edu	37	chr18	44260408	44260408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaggcaggcagcagcaccGacgcgttctcgtacacctgc	10	5	12	14	4	1	1	0	0	1	1	2	2	1	1	2	2	4	6	2	2	2	2			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr18:44260408G>A	ENST00000315087.7	-	7	1388	c.728C>T	c.(727-729)tCg>tTg	p.S243L	ST8SIA5_ENST00000536490.1_Missense_Mutation_p.S212L|ST8SIA5_ENST00000590497.1_5'UTR|ST8SIA5_ENST00000538168.1_Missense_Mutation_p.S279L	NM_013305.4	NP_037437.2	O15466	SIA8E_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 5	243					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane				kidney(1)|large_intestine(10)|lung(7)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	22						CAGCAGCACCGACGCGTTCTC	0.607													A	44260408	G	A	44260408	3	1	593	1	0	0	0	0	1	0	0	0	15331	1059	37	1	406	1	ST8SIA5	18	44260408	Missense_Mutation	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08		44260408	33816840	36	49904											
GRIN3B	116444	broad.mit.edu	37	chr19	1004802	1004802	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtttgcccgtgatccagaCgaagacgggcagtgcccagc	8	7	14	12	3	0	3	0	1	0	2	1	4	1	3	3	1	3	2	3	1	1	1	rs139557341		TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:1004802C>T	ENST00000234389.3	+	3	1321	c.1302C>T	c.(1300-1302)gaC>gaT	p.D434D	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	434					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GTGATCCAGACGAAGACGGGC	0.677													T	1004802	C	T	1004802	2	4	593	1	0	0	0	0	0	0	0	1	6839	535	19	1		1	GRIN3B	19	1004802	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08		1004802	58124181	37	49905											
BEST2	54831	broad.mit.edu	37	chr19	12866569	12866569	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagttcttcttctacgcCggctggctcaaggtaggtgg	5	13	13	10	2	4	0	1	0	3	0	4	0	4	0	1	5	2	5	1	5	3	6			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:12866569C>T	ENST00000549706.1	+	7	1179	c.855C>T	c.(853-855)gcC>gcT	p.A285A	BEST2_ENST00000042931.1_Silent_p.A285A|BEST2_ENST00000553030.1_Silent_p.A285A			Q8NFU1	BEST2_HUMAN	bestrophin 2	285					membrane depolarization|sensory perception of smell	chloride channel complex|cilium|plasma membrane	chloride channel activity			breast(3)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|pancreas(1)	12						TCTTCTACGCCGGCTGGCTCA	0.582													T	12866569	C	T	12866569	2	4	593	1	0	0	0	0	0	0	0	1	1410	639	23	1		1	BEST2	19	12866569	Silent	SNP	C	TCGA-HT-A4DS-01A-11D-A26M-08	11861767	12866569	46262414	38	49906											
ZNF536	9745	broad.mit.edu	37	chr19	31040264	31040264	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcccaggaccccttggcGggcctgccaaagccggagcg	8	3	14	16	3	0	0	0	0	0	0	0	2	0	2	6	4	4	0	6	4	2	1			TCGA-HT-A4DS-01A-11D-A26M-08	TCGA-HT-A4DS-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	82900479-957f-424c-b32f-b1ecf4b1fd05	846758c1-5fd9-4c3a-bf82-66a60311bb64	g.chr19:31040264G>A	ENST00000355537.3	+	4	3885	c.3738G>A	c.(3736-3738)gcG>gcA	p.A1246A		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	1246					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	p.A1246A(1)		NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					ACCCCTTGGCGGGCCTGCCAA	0.632													A	31040264	G	A	31040264	2	1	593	1	0	0	0	0	0	0	0	1	18075	1103	39	1		1	ZNF536	19	31040264	Silent	SNP	G	TCGA-HT-A4DS-01A-11D-A26M-08	18173695	31040264	28088719	39	49907											
DENND2C	163259	broad.mit.edu	37	chr1	115151483	115151483	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggttgcagttgtgctaagcGtttatggcgatctgtaatga	8	14	13	6	3	1	1	0	1	1	0	1	2	1	1	0	2	3	6	0	2	3	6			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:115151483G>A	ENST00000393274.1	-	10	2006	c.1381C>T	c.(1381-1383)Cgc>Tgc	p.R461C	DENND2C_ENST00000393277.1_Missense_Mutation_p.R461C|DENND2C_ENST00000393276.3_Missense_Mutation_p.R404C|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	461										NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TGTGCTAAGCGTTTATGGCGA	0.438													A	115151483	G	A	115151483	3	1	594	1	0	0	0	0	1	0	0	0	4469	1145	40	1	1453	1	DENND2C	1	115151483	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		115151483	134099138	1	49908											
APOBEC4	403314	broad.mit.edu	37	chr1	183617594	183617594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgctgtcattattgtatatgGctgagtcaagataaccattc	11	15	8	7	0	2	2	2	1	0	1	3	2	2	2	1	1	2	3	1	1	5	6			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr1:183617594G>A	ENST00000308641.4	-	2	594	c.323C>T	c.(322-324)gCc>gTc	p.A108V	RGL1_ENST00000536277.1_Intron|RGL1_ENST00000304685.4_Intron|APOBEC4_ENST00000481562.1_Intron	NM_203454.2	NP_982279.1	Q8WW27	ABEC4_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 4 (putative)	108					mRNA processing		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(6)|skin(1)	21						ATTGTATATGGCTGAGTCAAG	0.408													A	183617594	G	A	183617594	3	1	594	1	0	0	0	0	1	0	0	0	799	1203	42	2	784	2	APOBEC4	1	183617594	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	68466111	183617594	65633027	2	49909											
ANKRD23	200539	broad.mit.edu	37	chr2	97506180	97506180	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgtccactgtggcaccTgccaccagcagcttgttcac	6	8	10	17	3	1	0	1	0	0	0	2	0	2	0	4	1	3	4	4	1	0	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:97506180T>A	ENST00000318357.4	-	5	539	c.498A>T	c.(496-498)gcA>gcT	p.A166A	ANKRD23_ENST00000476975.1_5'UTR|ANKRD23_ENST00000418232.1_Silent_p.A166A|ANKRD23_ENST00000331001.2_Silent_p.A124A	NM_144994.7	NP_659431.5	Q86SG2	ANR23_HUMAN	ankyrin repeat domain 23	166						nucleus				endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(1)	9						CTGTGGCACCTGCCACCAGCA	0.622													A	97506180	T	A	97506180	2	1	594	1	0	0	0	0	0	0	0	1	652	1567	55	5		5	ANKRD23	2	97506180	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		97506180	145693193	3	49910											
CNTNAP5	129684	broad.mit.edu	37	chr2	125204403	125204403	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcctggatgaccagcactgGcactcggtcctcattgagcg	7	9	11	14	2	1	2	1	2	0	0	4	3	3	3	3	3	2	2	3	3	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:125204403G>A	ENST00000431078.1	+	6	1171	c.807G>A	c.(805-807)tgG>tgA	p.W269*		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	269	Laminin G-like 1.				cell adhesion|signal transduction	integral to membrane	receptor binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCAGCACTGGCACTCGGTCC	0.612													A	125204403	G	A	125204403	4	1	594	1	0	0	0	0	0	1	0	0	3681	1212	42	2	829	2	CNTNAP5	2	125204403	Nonsense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	27698223	125204403	117994970	4	49911											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	594	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	83908709	209113112	34086261	5	49912											
HDLBP	3069	broad.mit.edu	37	chr2	242176036	242176036	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatggacacatacctccagAgcttccttggcagcctcaca	11	8	7	15	0	1	1	1	0	0	1	3	2	3	2	4	2	3	2	4	2	1	3			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr2:242176036A>C	ENST00000391975.1	-	21	3125	c.2898T>G	c.(2896-2898)gcT>gcG	p.A966A	HDLBP_ENST00000391976.2_Silent_p.A966A|HDLBP_ENST00000310931.4_Silent_p.A966A|HDLBP_ENST00000427183.2_Silent_p.A933A	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	966	KH 11.				cholesterol metabolic process|lipid transport	cytoplasm|high-density lipoprotein particle|nucleus|plasma membrane	lipid binding|protein binding|RNA binding			breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		ATACCTCCAGAGCTTCCTTGG	0.612													C	242176036	A	C	242176036	2	2	594	1	0	0	0	0	0	0	0	1	7080	291	11	5		5	HDLBP	2	242176036	Silent	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08	33062924	242176036	1023337	6	49913											
HSPA4L	22824	broad.mit.edu	37	chr4	128753891	128753891	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagcccaaaccaaaagcagaAgttcctgaagacaaaccaaa	21	3	6	11	0	0	3	0	1	0	2	1	3	1	3	4	0	4	2	4	0	8	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr4:128753891A>C	ENST00000296464.4	+	19	2793	c.2382A>C	c.(2380-2382)gaA>gaC	p.E794D	HSPA4L_ENST00000508776.1_Missense_Mutation_p.E794D|HSPA4L_ENST00000505726.1_Missense_Mutation_p.E768D|HSPA4L_ENST00000439123.2_Missense_Mutation_p.E825D	NM_014278.2	NP_055093.2	O95757	HS74L_HUMAN	heat shock 70kDa protein 4-like						protein folding|response to unfolded protein	cytoplasm|nucleus	ATP binding|protein binding			central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CAAAAGCAGAAGTTCCTGAAG	0.368													C	128753891	A	C	128753891	3	2	594	1	0	0	0	0	1	0	0	0	7470	69	3	5	2456	5	HSPA4L	4	128753891	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		128753891	62400385	7	49914											
MYOZ3	91977	broad.mit.edu	37	chr5	150050053	150050053	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttcctggcagtccctacGctggacctgggcaagaagct	7	9	11	14	1	0	1	0	0	0	1	2	2	2	2	4	3	2	4	4	3	3	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr5:150050053G>A	ENST00000297130.4	+	3	268	c.69G>A	c.(67-69)acG>acA	p.T23T	MYOZ3_ENST00000517768.1_Silent_p.T23T	NM_001122853.2|NM_133371.4	NP_001116325.1|NP_588612.2	Q8TDC0	MYOZ3_HUMAN	myozenin 3	23						sarcomere	protein binding			large_intestine(2)|lung(1)|skin(2)	5		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGTCCCTACGCTGGACCTGG	0.602													A	150050053	G	A	150050053	2	1	594	1	0	0	0	0	0	0	0	1	10173	1074	38	1		1	MYOZ3	5	150050053	Silent	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		150050053	30865207	8	49915											
SYNE1	23345	broad.mit.edu	37	chr6	152730807	152730807	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatttcaggttctgatattCtctcattaagtcaataagtc	11	17	6	7	0	5	2	3	2	2	0	7	2	5	2	0	1	0	1	0	1	4	6			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr6:152730807C>G	ENST00000367255.5	-	43	6869	c.6268G>C	c.(6268-6270)Gaa>Caa	p.E2090Q	SYNE1_ENST00000448038.1_Missense_Mutation_p.E2097Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E2090Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E2127Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E2097Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2090					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)		TTCTGATATTCTCTCATTAAG	0.368										HNSCC(10;0.0054)			G	152730807	C	G	152730807	3	3	594	1	0	0	0	0	1	0	0	0	15542	922	32	4	20614	4	SYNE1	6	152730807	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		152730807	18384260	9	49916											
C7orf34	135927	broad.mit.edu	37	chr7	142636704	142636704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggggcggccaaaggcagTgggtgggcaggtccatgcct	7	5	19	10	1	0	0	0	0	0	0	1	0	1	0	3	7	1	2	3	7	1	0	rs11977017	by1000genomes	TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:142636704T>C	ENST00000409607.3	+	1	102	c.61T>C	c.(61-63)Tgg>Cgg	p.W21R		NM_178829.4	NP_849151.2	Q96L11	CG034_HUMAN	chromosome 7 open reading frame 34	0						extracellular region				large_intestine(1)|lung(4)	5	Melanoma(164;0.059)					CCAAAGGCAGTGGGTGGGCAG	0.642													C	142636704	T	C	142636704	3	2	594	1	0	0	0	0	1	0	0	0	2413	1696	59	3	63	3	C7orf34	7	142636704	Missense_Mutation	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		142636704	16501959	10	49917											
SLC4A2	6522	broad.mit.edu	37	chr7	150761619	150761619	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctccctgcagaccaccGccagtcctcccaccacatcc	7	6	4	24	1	0	1	0	0	0	1	5	1	5	1	10	0	1	1	10	0	0	0			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr7:150761619G>A	ENST00000485713.1	+	4	1264	c.224G>A	c.(223-225)cGc>cAc	p.R75H	SLC4A2_ENST00000461735.1_Missense_Mutation_p.R61H|SLC4A2_ENST00000413384.2_Missense_Mutation_p.R75H|SLC4A2_ENST00000392826.2_Missense_Mutation_p.R66H|SLC4A2_ENST00000310317.5_Intron	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	75	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GCAGACCACCGCCAGTCCTCC	0.682													A	150761619	G	A	150761619	3	1	594	1	0	0	0	0	1	0	0	0	14748	1087	38	1	234	1	SLC4A2	7	150761619	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	8124915	150761619	8377044	11	49918											
HTRA4	203100	broad.mit.edu	37	chr8	38839229	38839229	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgatggaatctcctttgcaAttccttcagatcgagttagg	9	14	9	9	1	2	2	1	1	1	1	5	4	3	3	2	2	1	2	2	2	3	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr8:38839229A>C	ENST00000302495.4	+	6	1157	c.1057A>C	c.(1057-1059)Att>Ctt	p.I353L		NM_153692.3	NP_710159.1	P83105	HTRA4_HUMAN	HtrA serine peptidase 4	353	Serine protease.				proteolysis|regulation of cell growth	extracellular region	insulin-like growth factor binding|serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|upper_aerodigestive_tract(1)	11		all_lung(54;0.0344)|Hepatocellular(245;0.0512)|Lung NSC(58;0.0955)	LUSC - Lung squamous cell carcinoma(45;1.5e-07)			CTCCTTTGCAATTCCTTCAGA	0.428													C	38839229	A	C	38839229	3	2	594	1	0	0	0	0	1	0	0	0	7514	101	4	5	1079	5	HTRA4	8	38839229	Missense_Mutation	SNP	A	TCGA-HT-A4DV-01A-11D-A26M-08		38839229	107524793	12	49919											
SARDH	1757	broad.mit.edu	37	chr9	136578200	136578200	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaggaagaaccctcggagCtcaggtgcctcccccatcag	9	5	10	17	1	2	1	2	0	0	1	4	3	3	3	5	3	3	1	5	3	2	0			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr9:136578200C>T	ENST00000371872.4	-	9	1454	c.1197G>A	c.(1195-1197)gaG>gaA	p.E399E	SARDH_ENST00000422262.2_Silent_p.E231E|SARDH_ENST00000439388.1_Silent_p.E399E	NM_007101.3	NP_009032.2	Q9UL12	SARDH_HUMAN	sarcosine dehydrogenase	399					glycine catabolic process	mitochondrial matrix	aminomethyltransferase activity|sarcosine dehydrogenase activity			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(13)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	44				OV - Ovarian serous cystadenocarcinoma(145;3.21e-07)|Epithelial(140;2.37e-06)|all cancers(34;2.75e-05)		ACCCTCGGAGCTCAGGTGCCT	0.612													T	136578200	C	T	136578200	2	4	594	1	0	0	0	0	0	0	0	1	13933	796	28	2		2	SARDH	9	136578200	Silent	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		136578200	4635231	13	49920											
RAD52	5893	broad.mit.edu	37	chr12	1023236	1023236	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagggcttgaccacaccaTcccctgcatcgggagtcaca	10	6	10	15	2	1	1	1	1	0	0	3	3	2	2	4	2	1	2	4	2	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:1023236T>G	ENST00000358495.3	-	11	1157	c.1019A>C	c.(1018-1020)gAt>gCt	p.D340A	RAD52_ENST00000539046.1_Missense_Mutation_p.D263A|RAD52_ENST00000430095.2_Missense_Mutation_p.D340A|RAD52_ENST00000535376.1_5'UTR	NM_134424.2	NP_602296.2	P43351	RAD52_HUMAN	RAD52 homolog (S. cerevisiae)	340					DNA recombinase assembly|mitotic recombination|reciprocal meiotic recombination	nucleoplasm	DNA binding|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	19	all_cancers(10;0.0119)|all_epithelial(11;0.0171)|all_lung(10;0.0521)|Ovarian(42;0.0816)|Lung NSC(10;0.0987)		OV - Ovarian serous cystadenocarcinoma(31;0.00123)|BRCA - Breast invasive adenocarcinoma(9;0.0323)			GACCACACCATCCCCTGCATC	0.507								Homologous recombination					G	1023236	T	G	1023236	3	3	594	1	0	0	0	0	1	0	0	0	13079	1435	50	5	245	5	RAD52	12	1023236	Missense_Mutation	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08		1023236	132828659	14	49921											
FICD	11153	broad.mit.edu	37	chr12	108912361	108912361	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcatccaggcggactacttGtacaccagagcattgaccat	12	9	8	12	1	1	2	1	1	0	1	2	3	2	3	3	2	3	2	3	2	2	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr12:108912361G>C	ENST00000552695.1	+	3	721	c.486G>C	c.(484-486)ttG>ttC	p.L162F	FICD_ENST00000361549.2_3'UTR	NM_007076.2	NP_009007.2	Q9BVA6	FICD_HUMAN	FIC domain containing	162					negative regulation of Rho GTPase activity	integral to membrane	binding|protein adenylyltransferase activity			NS(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|upper_aerodigestive_tract(2)	15						CGGACTACTTGTACACCAGAG	0.537													C	108912361	G	C	108912361	3	2	594	1	0	0	0	0	1	0	0	0	5936	1368	48	4	492	4	FICD	12	108912361	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	107889125	108912361	24939534	15	49922											
FHOD1	29109	broad.mit.edu	37	chr16	67264254	67264254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggtcttgttgcgctcaCggtatgtggcctgcttctgc	2	13	13	13	3	3	0	1	0	2	0	3	0	3	0	2	3	3	4	2	3	1	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr16:67264254C>T	ENST00000258201.4	-	19	3261	c.3014G>A	c.(3013-3015)cGt>cAt	p.R1005H		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	1005	FH2.				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GTTGCGCTCACGGTATGTGGC	0.592													T	67264254	C	T	67264254	3	4	594	1	0	0	0	0	1	0	0	0	5931	536	19	1	496	1	FHOD1	16	67264254	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		67264254	23090499	16	49923											
CIC	23152	broad.mit.edu	37	chr19	42791872	42791872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagaagtaccacgacctggCcttccaggtaacgctgttgc	9	8	11	13	2	0	1	0	0	0	1	1	2	1	1	4	2	3	5	4	2	3	4			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:42791872C>T	ENST00000572681.2	+	6	3553	c.3485C>T	c.(3484-3486)gCc>gTc	p.A1162V	CIC_ENST00000575354.2_Missense_Mutation_p.A253V|CIC_ENST00000160740.3_Missense_Mutation_p.A253V			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	253	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACGACCTGGCCTTCCAGGTA	0.622			"Mis, F, S"		oligodendroglioma								T	42791872	C	T	42791872	3	4	594	1	0	0	0	0	1	0	0	0	3454	739	26	2	776	2	CIC	19	42791872	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08		42791872	16337111	17	49924											
U2AF2	11338	broad.mit.edu	37	chr19	56180480	56180480	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gctgaacggcatgcagctggGggataagaagctgctggtcc	9	7	16	9	1	0	2	0	1	0	1	1	3	1	3	1	4	5	6	1	4	3	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chr19:56180480G>T	ENST00000450554.2	+	10	1936	c.977G>T	c.(976-978)gGg>gTg	p.G326V	U2AF2_ENST00000590551.1_Missense_Mutation_p.G162V|CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.G326V|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	326	RRM 2.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		ATGCAGCTGGGGGATAAGAAG	0.657													T	56180480	G	T	56180480	3	4	594	1	0	0	0	0	1	0	0	0	16925	1232	43	4	1015	4	U2AF2	19	56180480	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08	13388608	56180480	2948503	18	49925											
PHKA2	5256	broad.mit.edu	37	chrX	18924631	18924631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgagcagttcaggctccGtgccagctccgtggccatca	7	8	11	15	2	2	1	2	1	0	0	4	1	4	1	5	2	3	4	5	2	0	1			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:18924631G>A	ENST00000379942.4	-	25	3453	c.2788C>T	c.(2788-2790)Cgg>Tgg	p.R930W		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	930					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					TTCAGGCTCCGTGCCAGCTCC	0.632													A	18924631	G	A	18924631	3	1	594	1	0	0	0	0	1	0	0	0	11921	1144	40	1	955	1	PHKA2	23	18924631	Missense_Mutation	SNP	G	TCGA-HT-A4DV-01A-11D-A26M-08		18924631	136345929	19	49926											
SYTL5	94122	broad.mit.edu	37	chrX	37969646	37969646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactatgatcgatttggaCgtaatagcttcctcggggaa	10	11	12	8	3	0	1	0	1	0	0	3	4	1	3	1	4	1	3	1	4	4	5			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:37969646C>T	ENST00000357972.5	+	13	2053	c.1507C>T	c.(1507-1509)Cgt>Tgt	p.R503C	TM4SF2_ENST00000465127.1_Intron|SYTL5_ENST00000297875.2_Missense_Mutation_p.R503C|SYTL5_ENST00000456733.2_Missense_Mutation_p.R525C			Q8TDW5	SYTL5_HUMAN	synaptotagmin-like 5	503	C2 1.				intracellular protein transport	membrane	metal ion binding|Rab GTPase binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	44						TCGATTTGGACGTAATAGCTT	0.438													T	37969646	C	T	37969646	3	4	594	1	0	0	0	0	1	0	0	0	15583	536	19	1	1623	1	SYTL5	23	37969646	Missense_Mutation	SNP	C	TCGA-HT-A4DV-01A-11D-A26M-08	19045015	37969646	117300914	20	49927											
PLXNB3	5365	broad.mit.edu	37	chrX	153043475	153043475	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtacgggtgtcggacaaTgtggacgccatccttgctgt	7	11	14	9	3	0	0	0	0	0	0	2	3	1	2	2	3	2	2	2	3	2	2			TCGA-HT-A4DV-01A-11D-A26M-08	TCGA-HT-A4DV-10A-01D-A26K-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	68e51b8c-12e4-4a72-9412-8ecef2bd07b6	58d0d6e7-274b-47d4-bf28-aabce38ffaca	g.chrX:153043475T>C	ENST00000538966.1	+	33	5674	c.5403T>C	c.(5401-5403)aaT>aaC	p.N1801N	SRPK3_ENST00000489426.1_5'UTR|PLXNB3_ENST00000538776.1_Silent_p.N1431N|PLXNB3_ENST00000361971.5_Silent_p.N1778N|PLXNB3_ENST00000485980.1_3'UTR	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1778					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTCGGACAATGTGGACGCCA	0.602													C	153043475	T	C	153043475	2	2	594	1	0	0	0	0	0	0	0	1	12202	1461	51	3		3	PLXNB3	23	153043475	Silent	SNP	T	TCGA-HT-A4DV-01A-11D-A26M-08	115073829	153043475	2227085	21	49928											
DMBX1	127343	broad.mit.edu	37	chr1	46976622	46976622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggtgtggttcaagaacCgccgggccaagttccggaag	9	6	14	12	3	1	1	1	0	0	1	2	2	2	2	5	4	1	2	5	4	4	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:46976622C>T	ENST00000371956.4	+	3	379	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	DMBX1_ENST00000360032.3_Missense_Mutation_p.R117C	NM_147192.2	NP_671725.1	Q8NFW5	DMBX1_HUMAN	diencephalon/mesencephalon homeobox 1	122	Interacts with OXT2 and is required for repressor activity (By similarity).				brain development|developmental growth|negative regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Acute lymphoblastic leukemia(166;0.155)					GTTCAAGAACCGCCGGGCCAA	0.617													T	46976622	C	T	46976622	3	4	595	1	0	0	0	0	1	0	0	0	4617	652	23	1	374	1	DMBX1	1	46976622	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		46976622	202273999	1	49929											
PLEKHO1	51177	broad.mit.edu	37	chr1	150131105	150131105	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accaacctcttgtgctgagaGctttcgggttgacctggaca	8	11	11	11	1	1	2	0	2	1	1	2	4	1	3	3	2	3	3	3	2	1	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr1:150131105G>A	ENST00000369124.4	+	6	895	c.617G>A	c.(616-618)aGc>aAc	p.S206N	PLEKHO1_ENST00000025469.6_Missense_Mutation_p.S172N|PLEKHO1_ENST00000479194.1_3'UTR|PLEKHO1_ENST00000369126.1_Missense_Mutation_p.S23N	NM_016274.4	NP_057358.2	Q53GL0	PKHO1_HUMAN	pleckstrin homology domain containing, family O member 1	206	Interaction with ATM, CKIP, IFP35 and NMI.					cytoplasm|nucleus|plasma membrane				breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|skin(2)	22	Lung NSC(24;7.78e-28)|Breast(34;0.00211)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTGCTGAGAGCTTTCGGGTT	0.617													A	150131105	G	A	150131105	3	1	595	1	0	0	0	0	1	0	0	0	12161	971	34	2	639	2	PLEKHO1	1	150131105	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	103154483	150131105	99119516	2	49930											
SCTR	6344	broad.mit.edu	37	chr2	120197767	120197767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctgttgctgaaggaggCcacggggtgcagtgggaact	7	8	19	7	1	0	1	0	1	0	0	0	3	0	3	1	6	4	4	1	6	2	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:120197767C>T	ENST00000019103.5	-	13	1516	c.1249G>A	c.(1249-1251)Gcc>Acc	p.A417T		NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor	417					digestion|excretion	integral to plasma membrane	secretin receptor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CTGAAGGAGGCCACGGGGTGC	0.637													T	120197767	C	T	120197767	3	4	595	1	0	0	0	0	1	0	0	0	14036	739	26	2	77	2	SCTR	2	120197767	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		120197767	123001606	3	49931											
PLEKHM3	389072	broad.mit.edu	37	chr2	208866024	208866024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaaattaaaggttgatgCttccttttgttccatccagg	11	14	9	7	0	0	2	0	1	0	1	3	3	3	2	3	2	1	3	3	2	4	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:208866024C>T	ENST00000457206.1	-	2	767	c.340G>A	c.(340-342)Gca>Aca	p.A114T	PLEKHM3_ENST00000427836.2_Missense_Mutation_p.A114T|PLEKHM3_ENST00000389247.4_Missense_Mutation_p.A114T			Q6ZWE6	PKHM3_HUMAN	pleckstrin homology domain containing, family M, member 3	114					intracellular signal transduction		metal ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						AAGGTTGATGCTTCCTTTTGT	0.453													T	208866024	C	T	208866024	3	4	595	1	0	0	0	0	1	0	0	0	12159	797	28	2	1973	2	PLEKHM3	2	208866024	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	88668257	208866024	34333349	4	49932											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	595	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	247088	209113112	34086261	5	49933											
LHFPL4	375323	broad.mit.edu	37	chr3	9594261	9594261	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagaccaccacgttgatgaTggcgaagcagatggtgaaga	14	6	14	7	2	0	6	0	3	0	3	0	8	0	6	2	2	1	2	2	2	3	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:9594261T>C	ENST00000287585.6	-	2	388	c.103A>G	c.(103-105)Atc>Gtc	p.I35V		NM_198560.2	NP_940962.1	Q7Z7J7	LHPL4_HUMAN	lipoma HMGIC fusion partner-like 4	35						integral to membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(3)|skin(1)	10	Medulloblastoma(99;0.227)					ACGTTGATGATGGCGAAGCAG	0.632													C	9594261	T	C	9594261	3	2	595	1	0	0	0	0	1	0	0	0	8827	1464	51	3	652	3	LHFPL4	3	9594261	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		9594261	188428169	6	49934											
MST1	4485	broad.mit.edu	37	chr3	49723304	49723304	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggactcactgcggcttgtgCggcgtctcagcggaccagcg	5	7	16	13	5	2	0	2	0	1	0	3	2	2	2	1	4	4	1	1	4	0	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:49723304C>T	ENST00000449682.2	-	10	1600	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	399	Kringle 4.				proteolysis	extracellular region	serine-type endopeptidase activity			NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		GCGGCTTGTGCGGCGTCTCAG	0.682													T	49723304	C	T	49723304	2	4	595	1	0	0	0	0	0	0	0	1	9966	755	27	1		1	MST1	3	49723304	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	40129043	49723304	148299126	7	49935											
KIAA1524	57650	broad.mit.edu	37	chr3	108308132	108308132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctctcacctccaagtgccGcaaaagctgagtggcgttcg	8	8	11	14	3	1	1	1	1	1	0	4	1	2	1	4	1	2	3	4	1	3	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:108308132G>A	ENST00000295746.8	-	1	167	c.91C>T	c.(91-93)Cgg>Tgg	p.R31W	KIAA1524_ENST00000487834.1_5'UTR	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	31						cytoplasm|integral to membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TCCAAGTGCCGCAAAAGCTGA	0.587													A	108308132	G	A	108308132	3	1	595	1	0	0	0	0	1	0	0	0	8297	1086	38	1	2710	1	KIAA1524	3	108308132	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	58584828	108308132	89714298	8	49936											
ADPRH	141	broad.mit.edu	37	chr3	119305222	119305222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccatgagggcggctgtgGggctgccatgcgggccatgt	5	7	18	11	2	0	1	0	1	0	0	0	1	0	1	3	5	3	2	3	5	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:119305222G>A	ENST00000478399.1	+	3	1794	c.389G>A	c.(388-390)gGg>gAg	p.G130E	ADPRH_ENST00000357003.3_Missense_Mutation_p.G130E|ADPRH_ENST00000471850.1_3'UTR|ADPRH_ENST00000465513.1_Missense_Mutation_p.G130E|ADPRH_ENST00000478927.1_Missense_Mutation_p.G130E			P54922	ADPRH_HUMAN	ADP-ribosylarginine hydrolase	130					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			breast(1)|kidney(1)|lung(10)|ovary(1)	13		Lung NSC(201;0.0977)		GBM - Glioblastoma multiforme(114;0.23)		GGCGGCTGTGGGGCTGCCATG	0.612													A	119305222	G	A	119305222	3	1	595	1	0	0	0	0	1	0	0	0	331	1232	43	2	395	2	ADPRH	3	119305222	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	10997090	119305222	78717208	9	49937											
TFRC	7037	broad.mit.edu	37	chr3	195803944	195803944	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaatatcttaccaagttagaGaatgctgatctagcttgatc	14	13	7	7	0	2	3	0	2	2	1	3	4	2	3	1	0	3	3	1	0	7	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr3:195803944G>C	ENST00000360110.4	-	2	196	c.27C>G	c.(25-27)ttC>ttG	p.F9L	TFRC_ENST00000420415.1_5'UTR|TFRC_ENST00000540528.1_Missense_Mutation_p.F8L|TFRC_ENST00000535031.1_5'UTR|TFRC_ENST00000392396.3_Missense_Mutation_p.F9L	NM_001128148.1	NP_001121620.1	P02786	TFR1_HUMAN	transferrin receptor	9	Mediates interaction with SH3BP4.				cellular iron ion homeostasis|endocytosis|interspecies interaction between organisms|proteolysis|transferrin transport|transmembrane transport	coated pit|endosome|integral to plasma membrane|melanosome	peptidase activity|transferrin receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27	all_cancers(143;1.94e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.36e-24)|all cancers(36;3.34e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.17e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00233)		CCAAGTTAGAGAATGCTGATC	0.343			T	BCL6	NHL								C	195803944	G	C	195803944	3	2	595	1	0	0	0	0	1	0	0	0	15912	933	33	4	2327	4	TFRC	3	195803944	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76498722	195803944	2218486	10	49938											
DDX60L	91351	broad.mit.edu	37	chr4	169379129	169379129	+	Frame_Shift_Del	DEL	T	T	-																															ttccaagtgttgtatgaggcTtttatatgcactctgaatca																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr4:169379129delT	ENST00000511577.1	-	6	884	c.637delA	c.(637-639)agcfs	p.S213fs	DDX60L_ENST00000505890.1_Frame_Shift_Del_p.S213fs|DDX60L_ENST00000260184.7_Frame_Shift_Del_p.S213fs			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	213							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		TGTATGAGGCTTTTATATGCA	0.294													-	169379129	T	-	169379129	7	5	595	1	0	1	0	1	0	0	0	0	4413	1609	56	0	4615	0	DDX60L	4	169379129	Frame_Shift_Del	DEL	T	TCGA-HT-A5R5-01A-11D-A289-08		169379129	21775147	11	49939											
TERT	7015	broad.mit.edu	37	chr5	1264587	1264587	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaccaggggaataggccGtgggccggcatctgaacaaa	11	4	14	12	3	1	1	0	1	1	0	1	2	1	2	4	5	1	2	4	5	4	1	rs34528119		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:1264587G>A	ENST00000310581.5	-	11	2832	c.2775C>T	c.(2773-2775)caC>caT	p.H925H	TERT_ENST00000334602.6_Intron|TERT_ENST00000296820.5_3'UTR	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	925	Required for oligomerization.|Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GGAATAGGCCGTGGGCCGGCA	0.627									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				A	1264587	G	A	1264587	2	1	595	1	0	0	0	0	0	0	0	1	15864	1136	40	1		1	TERT	5	1264587	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		1264587	179650673	12	49940											
CDH9	1007	broad.mit.edu	37	chr5	26906079	26906079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atttcttactctggggaaatCgaggagggttgttgttgaca	9	14	13	5	1	2	1	0	1	2	0	3	4	2	3	0	4	1	3	0	4	2	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:26906079C>T	ENST00000231021.4	-	5	972	c.800G>A	c.(799-801)cGa>cAa	p.R267Q		NM_016279.3	NP_057363.3	Q9ULB4	CADH9_HUMAN	cadherin 9, type 2 (T1-cadherin)	267	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.R267Q(1)		breast(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(25)|lung(80)|ovary(5)|prostate(4)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	137						CTGGGGAAATCGAGGAGGGTT	0.428													T	26906079	C	T	26906079	3	4	595	1	0	0	0	0	1	0	0	0	3147	884	31	1	1601	1	CDH9	5	26906079	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	25641492	26906079	154009181	13	49941											
SKIV2L2	23517	broad.mit.edu	37	chr5	54720585	54720585	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatattgtgtttgctgcCagcctctacttgtagagtca	9	14	10	8	0	2	2	1	0	1	2	2	3	2	2	2	0	4	3	2	0	3	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:54720585C>T	ENST00000230640.5	+	27	3368	c.3114C>T	c.(3112-3114)gcC>gcT	p.A1038A	SKIV2L2_ENST00000545714.1_Silent_p.A937A	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	1038					maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding			NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				TGTTTGCTGCCAGCCTCTACT	0.378													T	54720585	C	T	54720585	2	4	595	1	0	0	0	0	0	0	0	1	14454	581	21	2		2	SKIV2L2	5	54720585	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	27814506	54720585	126194675	14	49942											
HARS	3035	broad.mit.edu	37	chr5	140070858	140070858	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgctctccctgaagtttcAccagctcctccagcgccgca	6	8	8	19	4	2	1	1	1	1	0	5	1	4	1	5	0	2	4	5	0	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr5:140070858A>T	ENST00000504156.1	-	1	751	c.32T>A	c.(31-33)gTg>gAg	p.V11E	HARS_ENST00000457527.2_Missense_Mutation_p.V11E|HARS_ENST00000307633.3_Missense_Mutation_p.V11E|HARS_ENST00000431330.2_Missense_Mutation_p.V11E|HARS_ENST00000438307.2_Missense_Mutation_p.V11E|HARS_ENST00000448240.1_5'UTR|HARS_ENST00000415192.2_Missense_Mutation_p.V11E	NM_002109.4	NP_002100.2	P12081	SYHC_HUMAN	histidyl-tRNA synthetase	11	WHEP-TRS.				histidyl-tRNA aminoacylation	cytosol	ATP binding|histidine-tRNA ligase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	19			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		L-Histidine(DB00117)	CTGAAGTTTCACCAGCTCCTC	0.652													T	140070858	A	T	140070858	3	4	595	1	0	0	0	0	1	0	0	0	7014	159	6	5	1549	5	HARS	5	140070858	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	85350273	140070858	40844402	15	49943											
MUC21	394263	broad.mit.edu	37	chr6	30954806	30954806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccagtgggatcagcacagTcaccaattctgagtccagca	11	8	10	12	0	3	1	2	1	1	0	5	2	5	2	3	1	2	2	3	1	1	1	rs9262370		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:30954806T>C	ENST00000376296.3	+	2	1095	c.854T>C	c.(853-855)gTc>gCc	p.V285A	MUC21_ENST00000486149.2_5'UTR	NM_001010909.2	NP_001010909.2	Q5SSG8	MUC21_HUMAN	mucin 21, cell surface associated	285	28 X 15 AA approximate tandem repeats.|Ser-rich.		V -> A (in dbSNP:rs9262370).			integral to membrane|plasma membrane				NS(4)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(3)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	42						ATCAGCACAGTCACCAATTCT	0.612													C	30954806	T	C	30954806	3	2	595	1	0	0	0	0	1	0	0	0	10053	1667	58	3	860	3	MUC21	6	30954806	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		30954806	140160261	16	49944											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000375349.3_5'UTR|DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	595	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5R5-01A-11D-A289-08	985023	31939829	139175238	17	49945											
ITPR3	3710	broad.mit.edu	37	chr6	33660584	33660584	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattgtgctgaacctcatctTtggggtaatcatcgacacct	9	13	8	11	1	3	1	2	1	1	0	4	2	3	1	2	2	2	2	2	2	2	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:33660584T>G	ENST00000374316.5	+	56	8598	c.7538T>G	c.(7537-7539)tTt>tGt	p.F2513C	ITPR3_ENST00000605930.1_Missense_Mutation_p.F2513C			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2513					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						AACCTCATCTTTGGGGTAATC	0.517													G	33660584	T	G	33660584	3	3	595	1	0	0	0	0	1	0	0	0	7980	1841	64	5	7756	5	ITPR3	6	33660584	Missense_Mutation	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08	1720755	33660584	137454483	18	49946											
PRSS35	167681	broad.mit.edu	37	chr6	84233254	84233254	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggattttatgtggcacttgAgaaaggtaccccggattgtc	9	12	13	7	1	0	1	0	1	0	1	1	4	0	3	2	4	1	2	2	4	3	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:84233254A>T	ENST00000536636.1	+	3	439	c.94A>T	c.(94-96)Aga>Tga	p.R32*	PRSS35_ENST00000369700.3_Nonsense_Mutation_p.R32*	NM_001170423.1	NP_001163894.1	Q8N3Z0	PRS35_HUMAN	protease, serine, 35	32					proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(2)|large_intestine(12)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	32		all_cancers(76;0.000113)|Acute lymphoblastic leukemia(125;1.09e-08)|all_hematologic(105;3.12e-05)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0768)		GTGGCACTTGAGAAAGGTACC	0.448													T	84233254	A	T	84233254	4	4	595	1	0	0	0	0	0	1	0	0	12709	296	11	5	96	5	PRSS35	6	84233254	Nonsense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	50572670	84233254	86881813	19	49947											
FBXO30	84085	broad.mit.edu	37	chr6	146126348	146126348	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttatcttcctttggtttAgaccaacatgaattagaaag	12	15	7	7	0	1	3	0	1	1	2	2	3	2	3	2	1	1	2	2	1	6	7			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr6:146126348A>G	ENST00000237281.4	-	2	1360	c.1194T>C	c.(1192-1194)tcT>tcC	p.S398S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	398	F-box.						ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		CCTTTGGTTTAGACCAACATG	0.388													G	146126348	A	G	146126348	2	3	595	1	0	0	0	0	0	0	0	1	5789	407	15	3		3	FBXO30	6	146126348	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	61893094	146126348	24988719	20	49948											
FOXK1	221937	broad.mit.edu	37	chr7	4798771	4798771	+	Frame_Shift_Del	DEL	C	C	-																															gtgcctgtctcgggagggctCccccattccacacgaccctg																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:4798771delC	ENST00000328914.4	+	6	1334	c.1334delC	c.(1333-1335)tccfs	p.S445fs	FOXK1_ENST00000446823.1_Frame_Shift_Del_p.S282fs	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	445				Missing (in Ref. 1; AK122663).	cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		CGGGAGGGCTCCCCCATTCCA	0.652													-	4798771	C	-	4798771	7	5	595	1	0	1	0	1	0	0	0	0	6065	855	30	0	1356	0	FOXK1	7	4798771	Frame_Shift_Del	DEL	C	TCGA-HT-A5R5-01A-11D-A289-08		4798771	154339892	21	49949											
ZNF394	84124	broad.mit.edu	37	chr7	99091497	99091497	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaatatgacaggtttccccGcattcctcacatttaaaatg	13	12	6	10	1	1	1	1	1	0	0	3	2	3	1	3	1	0	2	3	1	4	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:99091497G>A	ENST00000337673.6	-	3	1544	c.1341C>T	c.(1339-1341)tgC>tgT	p.C447C	ZNF789_ENST00000494186.1_Intron|ZNF394_ENST00000426306.2_3'UTR|ZNF789_ENST00000493485.1_Intron	NM_032164.2	NP_115540.2	Q53GI3	ZN394_HUMAN	zinc finger protein 394	447					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(5)|stomach(1)|urinary_tract(1)	16	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AGGTTTCCCCGCATTCCTCAC	0.428													A	99091497	G	A	99091497	2	1	595	1	0	0	0	0	0	0	0	1	17981	1079	38	1		1	ZNF394	7	99091497	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	94292726	99091497	60047166	22	49950											
PLXNA4	91584	broad.mit.edu	37	chr7	131829883	131829889	+	Frame_Shift_Del	DEL	GCTCTTC	GCTCTTC	-																															cctcccttcactcaccaattGctcttccaggtatggcggac																										TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr7:131829883_131829889delGCTCTTC	ENST00000359827.3	-	29	6176_6182	c.5214_5220delGAAGAGC	c.(5212-5220)tggaagagcfs	p.WKS1738fs	PLXNA4_ENST00000321063.4_Frame_Shift_Del_p.WKS1738fs			Q9HCM2	PLXA4_HUMAN	plexin A4	1738						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTCACCAATTGCTCTTCCAGGTATGGC	0.594													-	131829889	GCTCTTC	-	131829883	7	5	595	1	0	1	0	1	0	0	0	0	12199	1310	46	0	480	0	PLXNA4	7	131829883	Frame_Shift_Del	DEL	GCTCTTC	TCGA-HT-A5R5-01A-11D-A289-08	32738386	131829883	27308780	23	49951											
PTK2B	2185	broad.mit.edu	37	chr8	27279873	27279873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtcagcgagggcatggCcctgcagctgggctgcctgg	6	6	17	12	1	1	0	1	0	0	0	1	1	1	0	2	5	4	4	2	5	1	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:27279873C>T	ENST00000397501.1	+	10	1332	c.524C>T	c.(523-525)gCc>gTc	p.A175V	PTK2B_ENST00000544172.1_Missense_Mutation_p.A175V|PTK2B_ENST00000346049.5_Missense_Mutation_p.A175V|PTK2B_ENST00000420218.2_Missense_Mutation_p.A175V|PTK2B_ENST00000338238.4_Missense_Mutation_p.A175V|PTK2B_ENST00000517339.1_Missense_Mutation_p.A175V	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	175	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		GAGGGCATGGCCCTGCAGCTG	0.652													T	27279873	C	T	27279873	3	4	595	1	0	0	0	0	1	0	0	0	12849	739	26	2	538	2	PTK2B	8	27279873	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		27279873	119084149	24	49952											
TRHR	7201	broad.mit.edu	37	chr8	110100140	110100140	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atctgtcaccccatcaaagcCcagtttctctgcacattttc	9	13	4	15	0	4	0	2	0	2	0	6	0	4	0	3	0	2	2	3	0	1	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr8:110100140C>G	ENST00000518632.1	+	2	750	c.399C>G	c.(397-399)gcC>gcG	p.A133A	TRHR_ENST00000311762.2_Silent_p.A133A			P34981	TRFR_HUMAN	thyrotropin-releasing hormone receptor	133						integral to plasma membrane	thyrotropin-releasing hormone receptor activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(12)|prostate(4)|skin(4)|urinary_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(57;2.3e-11)			CCATCAAAGCCCAGTTTCTCT	0.413													G	110100140	C	G	110100140	2	3	595	1	0	0	0	0	0	0	0	1	16581	610	22	4		4	TRHR	8	110100140	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	82820267	110100140	36263882	25	49953											
RORB	6096	broad.mit.edu	37	chr9	77277523	77277523	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattctacttctgaagtcagGtaagcaagaagattcatggg	14	11	10	6	0	4	3	2	1	2	2	4	3	4	3	0	2	2	2	0	2	6	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr9:77277523G>T	ENST00000376896.3	+	6	1504		c.e6+1		RORB_ENST00000396204.2_Splice_Site	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B						eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						CTGAAGTCAGGTAAGCAAGAA	0.458													T	77277523	G	T	77277523	5	4	595	1	0	0	0	0	0	0	1	0	13620	1275	44	4	915	4	RORB	9	77277523	Splice_Site	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		77277523	63935908	26	49954											
BTAF1	9044	broad.mit.edu	37	chr10	93749186	93749186	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactatgcagctcagtgcatAgctaaactccttcagcagtg	12	10	8	11	0	2	0	2	0	0	0	3	0	3	0	1	0	7	5	1	0	5	4			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:93749186A>G	ENST00000265990.6	+	20	3011	c.2703A>G	c.(2701-2703)atA>atG	p.I901M		NM_003972.2	NP_003963.1	O14981	BTAF1_HUMAN	BTAF1 RNA polymerase II, B-TFIID transcription factor-associated, 170kDa	901					negative regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|helicase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(6)	59		Colorectal(252;0.0846)				CTCAGTGCATAGCTAAACTCC	0.388													G	93749186	A	G	93749186	3	3	595	1	0	0	0	0	1	0	0	0	1545	410	15	3	2781	3	BTAF1	10	93749186	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		93749186	41785561	27	49955											
PPRC1	23082	broad.mit.edu	37	chr10	103900414	103900414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgtggagtcagagtccttgGacccaccaaagaccatcatc	11	8	9	13	1	2	2	2	0	0	2	5	4	3	4	4	2	0	0	4	2	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr10:103900414G>A	ENST00000278070.2	+	5	2188	c.2149G>A	c.(2149-2151)Gac>Aac	p.D717N	PPRC1_ENST00000413464.2_Missense_Mutation_p.D717N	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	717					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		AGAGTCCTTGGACCCACCAAA	0.537													A	103900414	G	A	103900414	3	1	595	1	0	0	0	0	1	0	0	0	12492	1174	41	2	2167	2	PPRC1	10	103900414	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	10151228	103900414	31634333	28	49956											
DCHS1	8642	broad.mit.edu	37	chr11	6654108	6654108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atccagcagcacacgcacccGagctacagcgaaagctgggg	12	3	12	14	3	0	0	0	0	0	0	1	2	1	0	2	2	6	5	2	2	2	1	rs139750490		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:6654108G>A	ENST00000299441.3	-	6	3046	c.2635C>T	c.(2635-2637)Cgg>Tgg	p.R879W	RP11-732A19.6_ENST00000526633.1_RNA	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	879	Cadherin 8.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACACGCACCCGAGCTACAGCG	0.597													A	6654108	G	A	6654108	3	1	595	1	0	0	0	0	1	0	0	0	4321	1057	37	1	7325	1	DCHS1	11	6654108	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		6654108	128352408	29	49957											
IGSF22	283284	broad.mit.edu	37	chr11	18739488	18739488	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccactcatacccagcactgtGagctctgcactcatccgctt	8	10	6	17	1	3	1	2	1	1	0	4	1	4	1	3	0	4	4	3	0	1	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:18739488G>A	ENST00000513874.1	-	9	1102	c.963C>T	c.(961-963)ctC>ctT	p.L321L	RP11-1081L13.4_ENST00000527285.1_RNA	NM_173588.3	NP_775859	Q8N9C0	IGS22_HUMAN	immunoglobulin superfamily, member 22	321	Ig-like 2.									NS(2)|autonomic_ganglia(1)|breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(20)|ovary(4)|prostate(4)|skin(3)	56						CCAGCACTGTGAGCTCTGCAC	0.542													A	18739488	G	A	18739488	2	1	595	1	0	0	0	0	0	0	0	1	7658	1277	45	2		2	IGSF22	11	18739488	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	12085380	18739488	116267028	30	49958											
TECTA	7007	broad.mit.edu	37	chr11	120996422	120996422	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctctgtgggagtgtggcActgtcgtggaccccactgct	4	10	14	13	1	1	0	0	0	1	0	2	2	1	2	3	3	1	2	3	3	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:120996422A>G	ENST00000392793.1	+	8	1886	c.1615A>G	c.(1615-1617)Act>Gct	p.T539A	TECTA_ENST00000264037.2_Missense_Mutation_p.T539A			O75443	TECTA_HUMAN	tectorin alpha	539	VWFD 1.				cell-matrix adhesion|sensory perception of sound	anchored to membrane|plasma membrane|proteinaceous extracellular matrix			TECTA/TBCEL(2)	NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|liver(1)|lung(46)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	135	all_hematologic(175;0.208)	Breast(109;0.000766)|Medulloblastoma(222;0.0427)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;8.04e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.166)		GGAGTGTGGCACTGTCGTGGA	0.592													G	120996422	A	G	120996422	3	3	595	1	0	0	0	0	1	0	0	0	15847	159	6	3	1641	3	TECTA	11	120996422	Missense_Mutation	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08	102256934	120996422	14010094	31	49959											
HSPA8	3312	broad.mit.edu	37	chr11	122931899	122931899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgatcaaccgttcagtgtccGtaaaggcgacatagcttgga	11	9	11	10	4	2	0	2	0	0	0	3	3	3	1	2	2	2	3	2	2	4	4			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr11:122931899G>A	ENST00000534624.1	-	2	410	c.134C>T	c.(133-135)aCg>aTg	p.T45M	HSPA8_ENST00000532636.1_Missense_Mutation_p.T45M|HSPA8_ENST00000526110.1_Missense_Mutation_p.T45M|HSPA8_ENST00000227378.3_Missense_Mutation_p.T45M|HSPA8_ENST00000533540.1_Missense_Mutation_p.T45M|HSPA8_ENST00000453788.2_Missense_Mutation_p.T45M	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	45					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		TTCAGTGTCCGTAAAGGCGAC	0.463													A	122931899	G	A	122931899	3	1	595	1	0	0	0	0	1	0	0	0	7473	1145	40	1	1838	1	HSPA8	11	122931899	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	1935477	122931899	12074617	32	49960											
STRAP	11171	broad.mit.edu	37	chr12	16050900	16050900	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaatttcttgttgcaggCggtgaagattttaaacttta	13	15	9	4	1	1	3	0	1	1	2	1	3	1	3	0	2	2	2	0	2	6	7			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:16050900C>T	ENST00000419869.2	+	7	1036	c.723C>T	c.(721-723)ggC>ggT	p.G241G	STRAP_ENST00000538352.1_Silent_p.G147G|STRAP_ENST00000025399.6_Silent_p.G254G	NM_007178.3	NP_009109.3	Q9Y3F4	STRAP_HUMAN	serine/threonine kinase receptor associated protein	241					mRNA processing|RNA splicing	cell junction|mitochondrion|spliceosomal complex	identical protein binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	15		Hepatocellular(102;0.121)				TTGTTGCAGGCGGTGAAGATT	0.343													T	16050900	C	T	16050900	2	4	595	1	0	0	0	0	0	0	0	1	15422	755	27	1		1	STRAP	12	16050900	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		16050900	117800995	33	49961											
NUAK1	9891	broad.mit.edu	37	chr12	106477695	106477695	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcttcaagtcccggtGgaccacaccgttctgaaatg	9	10	9	13	2	2	1	1	1	1	0	4	2	4	2	4	2	1	2	4	2	2	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr12:106477695G>T	ENST00000261402.2	-	4	1905	c.526C>A	c.(526-528)Cac>Aac	p.H176N		NM_014840.2	NP_055655.1	O60285	NUAK1_HUMAN	NUAK family, SNF1-like kinase, 1	176	Protein kinase.						ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37						AAGTCCCGGTGGACCACACCG	0.498													T	106477695	G	T	106477695	3	4	595	1	0	0	0	0	1	0	0	0	10788	1348	47	4	1475	4	NUAK1	12	106477695	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	90426795	106477695	27374200	34	49962											
PRR14	78994	broad.mit.edu	37	chr16	30666113	30666113	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaaccccacagcccccAcccccgtcccccccaatgaa	13	2	3	23	1	0	1	0	1	0	0	1	1	1	1	9	0	3	0	9	0	5	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:30666113A>C	ENST00000542965.2	+	7	1278	c.822A>C	c.(820-822)ccA>ccC	p.P274P	PRR14_ENST00000300835.4_Silent_p.P274P			Q9BWN1	PRR14_HUMAN	proline rich 14	274	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CACAGCCCCCACCCCCGTCCC	0.652													C	30666113	A	C	30666113	2	2	595	1	0	0	0	0	0	0	0	1	12672	146	6	5		5	PRR14	16	30666113	Silent	SNP	A	TCGA-HT-A5R5-01A-11D-A289-08		30666113	59688640	35	49963											
CTCF	10664	broad.mit.edu	37	chr16	67663410	67663410	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaaaaagaaagatgcgctCtaagaaagaagattcctctg	19	7	9	6	1	2	6	0	0	2	6	3	6	3	6	1	0	1	1	1	0	7	2			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67663410C>G	ENST00000264010.4	+	10	2255	c.1811C>G	c.(1810-1812)tCt>tGt	p.S604C	CTCF_ENST00000401394.1_Missense_Mutation_p.S276C	NM_006565.3	NP_006556.1	P49711	CTCF_HUMAN	CCCTC-binding factor (zinc finger protein)	604					chromatin modification|chromosome segregation|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|regulation of centromeric sister chromatid cohesion|regulation of molecular function, epigenetic	chromosome, centromeric region|condensed chromosome|nucleolus|nucleoplasm	chromatin insulator sequence binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|transcription regulatory region DNA binding|zinc ion binding			breast(6)|central_nervous_system(2)|cervix(1)|endometrium(34)|haematopoietic_and_lymphoid_tissue(7)|kidney(3)|large_intestine(9)|liver(1)|lung(11)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	79		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0166)|Epithelial(162;0.0577)		AAGATGCGCTCTAAGAAAGAA	0.448													G	67663410	C	G	67663410	3	3	595	1	0	0	0	0	1	0	0	0	4033	913	32	4	1841	4	CTCF	16	67663410	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	36997297	67663410	22691343	36	49964											
TSNAXIP1	55815	broad.mit.edu	37	chr16	67860104	67860104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatgctggctgagggcaaGaacagcgaccagctggtgga	11	5	16	9	1	0	3	0	1	0	2	0	5	0	4	1	4	4	4	1	4	2	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr16:67860104G>C	ENST00000388833.3	+	10	1409	c.1032G>C	c.(1030-1032)aaG>aaC	p.K344N	TSNAXIP1_ENST00000561639.1_Missense_Mutation_p.K398N|TSNAXIP1_ENST00000415766.3_Missense_Mutation_p.K329N	NM_018430.2	NP_060900.2	Q2TAA8	TXIP1_HUMAN	translin-associated factor X interacting protein 1	344					cell differentiation|multicellular organismal development|spermatogenesis	perinuclear region of cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|prostate(1)|soft_tissue(1)|urinary_tract(1)	22		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00432)|Epithelial(162;0.0192)|all cancers(182;0.125)		CTGAGGGCAAGAACAGCGACC	0.637													C	67860104	G	C	67860104	3	2	595	1	0	0	0	0	1	0	0	0	16733	933	33	4	1062	4	TSNAXIP1	16	67860104	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	196694	67860104	22494649	37	49965											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	595	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		7577121	73618089	38	49966											
KRI1	65095	broad.mit.edu	37	chr19	10670353	10670353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctcatccttacggcgcacgGaggacgcgatgctgcgtggg	6	7	16	12	6	1	0	1	0	0	0	2	3	2	2	1	4	3	3	1	4	1	1			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:10670353G>A	ENST00000312962.6	-	11	996	c.977C>T	c.(976-978)tCc>tTc	p.S326F	KRI1_ENST00000361821.5_Missense_Mutation_p.S322F	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	326	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACGGCGCACGGAGGACGCGAT	0.622													A	10670353	G	A	10670353	3	1	595	1	0	0	0	0	1	0	0	0	8502	1174	41	2	1188	2	KRI1	19	10670353	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		10670353	48458630	39	49967											
NUCB1	4924	broad.mit.edu	37	chr19	49422370	49422370	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgcatgcgggagcatgtGatgaagaatgtgaggtgggg	9	8	19	5	2	0	4	0	3	0	1	0	5	0	5	0	4	3	2	0	4	2	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:49422370G>T	ENST00000405315.4	+	9	1234	c.900G>T	c.(898-900)gtG>gtT	p.V300V	NUCB1_ENST00000407032.1_Silent_p.V300V|NUCB1_ENST00000485798.1_Intron|NUCB1_ENST00000263273.5_Silent_p.V300V	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	300	Binds to GNAI2 and GNAI3 (By similarity).|EF-hand 2.			HV -> QL (in Ref. 1; AAA36383).		ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		GGGAGCATGTGATGAAGAATG	0.622													T	49422370	G	T	49422370	2	4	595	1	0	0	0	0	0	0	0	1	10794	1277	45	4		4	NUCB1	19	49422370	Silent	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	38752017	49422370	9706613	40	49968											
NLRP8	126205	broad.mit.edu	37	chr19	56459540	56459540	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttcatctcttgatagagcGtttccctggacgacgcgctt	6	13	11	11	4	2	2	1	1	1	1	4	4	3	3	1	2	1	3	1	2	1	5	rs149738419		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr19:56459540G>A	ENST00000291971.3	+	1	343	c.272G>A	c.(271-273)cGt>cAt	p.R91H	NLRP8_ENST00000590542.1_Missense_Mutation_p.R91H	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	91	DAPIN.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		TTGATAGAGCGTTTCCCTGGA	0.512													A	56459540	G	A	56459540	3	1	595	1	0	0	0	0	1	0	0	0	10559	1145	40	1	274	1	NLRP8	19	56459540	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	7037170	56459540	2669443	41	49969											
SNRPB	6628	broad.mit.edu	37	chr20	2444499	2444499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgccagcagccctgccgatcCctgggcccccggcagctcca	5	5	11	20	2	0	0	0	0	0	0	2	1	2	0	7	2	5	3	7	2	0	0			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr20:2444499C>T	ENST00000339610.6	-	5	532	c.77G>A	c.(76-78)gGg>gAg	p.G26E	SNRPB_ENST00000381342.2_Missense_Mutation_p.G105E|SNRPB_ENST00000438552.2_Missense_Mutation_p.G105E			P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	105					histone mRNA metabolic process|ncRNA metabolic process|spliceosomal snRNP assembly|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|nucleoplasm|U12-type spliceosomal complex|U7 snRNP	protein binding|RNA binding			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						CCTGCCGATCCCTGGGCCCCC	0.587													T	2444499	C	T	2444499	3	4	595	1	0	0	0	0	1	0	0	0	14955	623	22	2	439	2	SNRPB	20	2444499	Missense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08		2444499	60581021	42	49970											
PIWIL3	440822	broad.mit.edu	37	chr22	25119191	25119191	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaatctagtgtttattcGtttcttcaccacaatgaaag	15	14	5	7	1	3	1	1	1	2	0	4	1	3	1	1	0	0	2	1	0	7	6	rs147640812		TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chr22:25119191G>A	ENST00000332271.5	-	19	2706	c.2290C>T	c.(2290-2292)Cga>Tga	p.R764*	PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000527701.1_Nonsense_Mutation_p.R646*|PIWIL3_ENST00000533313.1_Nonsense_Mutation_p.R646*	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	764	Piwi.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GTGTTTATTCGTTTCTTCACC	0.343													A	25119191	G	A	25119191	4	1	595	1	0	0	0	0	0	1	0	0	12036	1153	40	1	370	1	PIWIL3	22	25119191	Nonsense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08		25119191	26185375	43	49971											
DMD	1756	broad.mit.edu	37	chrX	31747794	31747794	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttgattgctggtcttgttTttcaaattttgggcagcggt	5	19	11	6	1	3	1	1	1	2	0	3	1	3	1	0	3	2	3	0	3	1	7			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:31747794T>C	ENST00000357033.4	-	52	7820	c.7614A>G	c.(7612-7614)aaA>aaG	p.K2538K	DMD_ENST00000378707.3_Silent_p.K78K|DMD_ENST00000359836.1_Silent_p.K78K|DMD_ENST00000378677.2_Silent_p.K2534K|DMD_ENST00000541735.1_Silent_p.K78K|DMD_ENST00000474231.1_Silent_p.K78K|DMD_ENST00000343523.2_Silent_p.K78K	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	2538					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGGTCTTGTTTTTCAAATTTT	0.413													C	31747794	T	C	31747794	2	2	595	1	0	0	0	0	0	0	0	1	4619	1838	64	3		3	DMD	23	31747794	Silent	SNP	T	TCGA-HT-A5R5-01A-11D-A289-08		31747794	123522766	44	49972											
ATRX	546	broad.mit.edu	37	chrX	76937081	76937081	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggcttaattttctgttCatcgctgcttccctcaccta	7	15	5	14	1	3	0	2	0	1	0	5	0	4	0	2	1	1	4	2	1	2	6			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76937081C>A	ENST00000373344.5	-	9	3881	c.3667G>T	c.(3667-3669)Gaa>Taa	p.E1223*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E1185*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1223					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.E1223Q(2)|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)	ATTTTCTGTTCATCGCTGCTT	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76937081	C	A	76937081	4	1	595	1	0	0	0	0	0	1	0	0	1213	835	29	4	3919	4	ATRX	23	76937081	Nonsense_Mutation	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	45189287	76937081	78333479	45	49973											
ATRX	546	broad.mit.edu	37	chrX	76939554	76939554	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccttcttaatatcagccaaCacagacttaaaagccttaag	15	10	5	11	0	2	1	1	0	1	1	2	1	2	1	3	0	3	0	3	0	6	5			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:76939554C>G	ENST00000373344.5	-	9	1408	c.1194G>C	c.(1192-1194)gtG>gtC	p.V398V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.V360V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					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)	TATCAGCCAACACAGACTTAA	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76939554	C	G	76939554	2	3	595	1	0	0	0	0	0	0	0	1	1213	465	17	4		4	ATRX	23	76939554	Silent	SNP	C	TCGA-HT-A5R5-01A-11D-A289-08	2473	76939554	78331006	46	49974											
GAB3	139716	broad.mit.edu	37	chrX	153906497	153906497	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccgtccactcctgttttgtGctctggagagcctgtgtctt	3	16	10	12	1	2	1	0	0	2	1	5	2	5	1	4	1	2	2	4	1	0	3			TCGA-HT-A5R5-01A-11D-A289-08	TCGA-HT-A5R5-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0686504d-9d1a-470d-bb1a-14fef0939d3f	c54b6c79-a24e-418f-a5f3-5bda53aebf79	g.chrX:153906497G>C	ENST00000369575.3	-	10	1750	c.1719C>G	c.(1717-1719)agC>agG	p.S573R	GAB3_ENST00000496390.1_5'UTR|GAB3_ENST00000424127.2_Missense_Mutation_p.S574R	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3	573										NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCTGTTTTGTGCTCTGGAGAG	0.463													C	153906497	G	C	153906497	3	2	595	1	0	0	0	0	1	0	0	0	6202	1310	46	4	45	4	GAB3	23	153906497	Missense_Mutation	SNP	G	TCGA-HT-A5R5-01A-11D-A289-08	76966943	153906497	1364063	47	49975											
PPM1J	333926	broad.mit.edu	37	chr1	113257684	113257684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggtcatcggcgcgtcgCagccccccggggctcagctg	3	6	16	16	6	2	0	2	0	0	0	4	0	2	0	3	4	2	3	3	4	0	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:113257684C>T	ENST00000309276.6	-	1	415	c.240G>A	c.(238-240)ctG>ctA	p.L80L	PPM1J_ENST00000464951.1_5'UTR	NM_005167.5	NP_005158.5	Q5JR12	PPM1J_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1J	80										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	14	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CGGCGCGTCGCAGCCCCCCGG	0.741													T	113257684	C	T	113257684	2	4	596	1	0	0	0	0	0	0	0	1	12424	697	25	2		2	PPM1J	1	113257684	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		113257684	135992937	1	49976											
TEDDM1	127670	broad.mit.edu	37	chr1	182369551	182369551	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccataggctattttccAcagcctggcacatctttgct	7	14	6	14	0	1	0	0	0	1	0	4	0	4	0	4	2	2	3	4	2	2	5			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:182369551A>G	ENST00000367565.1	-	1	200	c.70T>C	c.(70-72)Tgg>Cgg	p.W24R		NM_172000.3	NP_741997.3	Q5T9Z0	TEDM1_HUMAN	transmembrane epididymal protein 1	24						integral to membrane				haematopoietic_and_lymphoid_tissue(1)|lung(4)|ovary(2)	7						GCTATTTTCCACAGCCTGGCA	0.463													G	182369551	A	G	182369551	3	3	596	1	0	0	0	0	1	0	0	0	15849	159	6	3	755	3	TEDDM1	1	182369551	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	69111867	182369551	66881070	2	49977											
F13B	2165	broad.mit.edu	37	chr1	197031010	197031010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggttttgtaccctgaagCgcaaccataacgcatgttct	10	12	9	10	2	1	1	0	1	1	0	1	1	1	1	2	1	4	5	2	1	4	5			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr1:197031010C>T	ENST00000367412.1	-	3	398	c.355G>A	c.(355-357)Gct>Act	p.A119T		NM_001994.2	NP_001985.2	P05160	F13B_HUMAN	coagulation factor XIII, B polypeptide	119	Sushi 2.				blood coagulation	extracellular region				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(40)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)	66						TACCCTGAAGCGCAACCATAA	0.403													T	197031010	C	T	197031010	3	4	596	1	0	0	0	0	1	0	0	0	5383	768	27	1	1670	1	F13B	1	197031010	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	14661459	197031010	52219611	3	49978											
RASGRP3	25780	broad.mit.edu	37	chr2	33745641	33745641	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggattctgaagtttccTgcagagtttaatttggatct	9	17	9	6	0	2	2	0	1	2	1	3	4	3	4	1	2	2	3	1	2	3	6			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:33745641T>G	ENST00000403687.3	+	6	998	c.258T>G	c.(256-258)ccT>ccG	p.P86P	RASGRP3_ENST00000407811.1_Silent_p.P86P|RASGRP3_ENST00000402538.3_Silent_p.P86P	NM_001139488.1	NP_001132960.1	Q8IV61	GRP3_HUMAN	RAS guanyl releasing protein 3 (calcium and DAG-regulated)	86	N-terminal Ras-GEF.				MAPKKK cascade|small GTPase mediated signal transduction	integral to plasma membrane|intracellular	calcium ion binding|diacylglycerol binding|guanyl-nucleotide exchange factor activity|protein binding|Rap GTPase activator activity|signal transducer activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|stomach(2)	11	all_hematologic(175;0.115)					TGAAGTTTCCTGCAGAGTTTA	0.398													G	33745641	T	G	33745641	2	3	596	1	0	0	0	0	0	0	0	1	13164	1567	55	5		5	RASGRP3	2	33745641	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		33745641	209453732	4	49979											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	596	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	175367471	209113112	34086261	5	49980											
VIL1	7429	broad.mit.edu	37	chr2	219299258	219299258	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctgcagggaggcaccTcccgaactaacaacttggag	11	6	10	14	1	1	0	1	0	0	0	2	3	2	2	3	3	4	2	3	3	3	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr2:219299258T>C	ENST00000248444.5	+	14	1598	c.1510T>C	c.(1510-1512)Tcc>Ccc	p.S504P	VIL1_ENST00000392114.2_Missense_Mutation_p.S193P	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	504	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GGGAGGCACCTCCCGAACTAA	0.607													C	219299258	T	C	219299258	3	2	596	1	0	0	0	0	1	0	0	0	17266	1551	54	3	1560	3	VIL1	2	219299258	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	10186146	219299258	23900115	6	49981											
NUP210	23225	broad.mit.edu	37	chr3	13363258	13363258	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggaggcactgaccaccaGagctgtcttcttcatgctca	9	9	11	12	0	4	2	2	1	2	1	4	4	4	3	2	2	2	3	2	2	0	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13363258G>C	ENST00000254508.5	-	36	5075	c.4993C>G	c.(4993-4995)Ctg>Gtg	p.L1665V		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1665					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CTGACCACCAGAGCTGTCTTC	0.582													C	13363258	G	C	13363258	3	2	596	1	0	0	0	0	1	0	0	0	10836	933	33	4	690	4	NUP210	3	13363258	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		13363258	184659172	7	49982											
FBLN2	2199	broad.mit.edu	37	chr3	13655525	13655525	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcctccgcgtgcgggcCgagggccagtcgtgtgagtc	3	7	18	13	5	0	1	0	1	0	0	3	2	1	1	4	3	1	0	4	3	0	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:13655525C>T	ENST00000404922.3	+	5	1709	c.1590C>T	c.(1588-1590)gcC>gcT	p.A530A	FBLN2_ENST00000295760.7_Silent_p.A530A|FBLN2_ENST00000492059.1_Silent_p.A530A|FBLN2_ENST00000535798.1_Silent_p.A556A	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	530	Anaphylatoxin-like 3.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCGTGCGGGCCGAGGGCCAGT	0.597													T	13655525	C	T	13655525	2	4	596	1	0	0	0	0	0	0	0	1	5748	639	23	1		1	FBLN2	3	13655525	Silent	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	292267	13655525	184366905	8	49983											
TOMM70A	9868	broad.mit.edu	37	chr3	100096610	100096610	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctggtttggctgcattggcaTtgccaataagcaggtagaag	10	11	13	7	0	0	1	0	0	0	1	0	1	0	1	1	4	3	6	1	4	4	5			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr3:100096610T>C	ENST00000284320.5	-	6	1479	c.1031A>G	c.(1030-1032)aAt>aGt	p.N344S		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	344					protein targeting to mitochondrion	integral to membrane|mitochondrial outer membrane translocase complex	protein binding|protein transmembrane transporter activity			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						TGCATTGGCATTGCCAATAAG	0.348													C	100096610	T	C	100096610	3	2	596	1	0	0	0	0	1	0	0	0	16463	1493	52	3	823	3	TOMM70A	3	100096610	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	86441085	100096610	97925820	9	49984											
SEC31A	22872	broad.mit.edu	37	chr4	83742201	83742201	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacttactgtctgttcccTaagtttatcatacagaaact	14	14	4	9	0	2	1	1	0	1	1	3	1	3	1	1	0	4	2	1	0	7	6			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:83742201T>G	ENST00000432794.1	-	27	3674	c.3511A>C	c.(3511-3513)Agg>Cgg	p.R1171R	SEC31A_ENST00000395310.2_Silent_p.R1158R|SEC31A_ENST00000509142.1_Silent_p.R1044R|SEC31A_ENST00000311785.7_Silent_p.R1044R|SEC31A_ENST00000355196.2_Silent_p.R1158R|SEC31A_ENST00000500777.2_Silent_p.R1005R|SEC31A_ENST00000505472.1_Silent_p.R1189R|SEC31A_ENST00000326950.5_Silent_p.R1119R|SEC31A_ENST00000505984.1_Silent_p.R1104R|SEC31A_ENST00000513858.1_Silent_p.R1005R|SEC31A_ENST00000508502.1_Silent_p.R1143R|SEC31A_ENST00000348405.4_Silent_p.R1119R|SEC31A_ENST00000443462.2_Silent_p.R1138R|SEC31A_ENST00000264405.5_Silent_p.R907R|SEC31A_ENST00000448323.1_Silent_p.R1158R			O94979	SC31A_HUMAN	SEC31 homolog A (S. cerevisiae)	1158					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|response to calcium ion	COPII vesicle coat|cytosol|endoplasmic reticulum membrane|perinuclear region of cytoplasm	calcium-dependent protein binding		SEC31A/ALK(3)|SEC31A/JAK2(4)	breast(1)	1		Hepatocellular(203;0.114)				GTCTGTTCCCTAAGTTTATCA	0.343													G	83742201	T	G	83742201	2	3	596	1	0	0	0	0	0	0	0	1	14091	1521	53	5		5	SEC31A	4	83742201	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		83742201	107412075	10	49985											
TMEM144	55314	broad.mit.edu	37	chr4	159138571	159138571	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taactggctgggcaagctcaAggtaattcaagtcaaactag	14	9	10	8	0	3	0	3	0	0	0	3	0	3	0	0	3	3	4	0	3	7	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr4:159138571A>G	ENST00000514558.1	+	4	2127	c.331A>G	c.(331-333)Agg>Ggg	p.R111G	TMEM144_ENST00000296529.6_Splice_Site_p.R111G			Q7Z5S9	TM144_HUMAN	transmembrane protein 144	111						integral to membrane				autonomic_ganglia(1)|endometrium(1)|large_intestine(7)|lung(9)|prostate(1)	19	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0539)		GGCAAGCTCAAGGTAATTCAA	0.378													G	159138571	A	G	159138571	5	3	596	1	0	0	0	0	0	0	1	0	16158	86	3	3	341	3	TMEM144	4	159138571	Splice_Site	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	75396370	159138571	32015705	11	49986											
FLT4	2324	broad.mit.edu	37	chr5	180056949	180056949	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagccctgttacctgtgaTgtgcaccaggaaggggttgg	8	9	14	10	0	0	1	0	1	0	0	0	2	0	2	3	4	3	3	3	4	2	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr5:180056949T>A	ENST00000261937.6	-	5	748	c.670A>T	c.(670-672)Atc>Ttc	p.I224F	FLT4_ENST00000393347.3_Missense_Mutation_p.I224F|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.I224F	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	224	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TTACCTGTGATGTGCACCAGG	0.622													A	180056949	T	A	180056949	3	1	596	1	0	0	0	0	1	0	0	0	5993	1464	51	5	3533	5	FLT4	5	180056949	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		180056949	858311	12	49987											
BRPF3	27154	broad.mit.edu	37	chr6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagctcaaggcggggTgagtggctccctcaagggag	9	5	18	9	1	2	1	2	1	0	0	3	3	3	3	1	6	1	3	1	6	3	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G|BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGGCGGGGTGAGTGGCTCC	0.547													G	36169409	T	G	36169409	3	3	596	1	0	0	0	0	1	0	0	0	1530	1696	59	5	1312	5	BRPF3	6	36169409	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		36169409	134945658	13	49988											
MED23	9439	broad.mit.edu	37	chr6	131913582	131913582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatgctgtaatgttctcTcttggcactaaaggctgact	9	14	8	10	0	2	1	0	1	2	0	4	1	3	1	1	2	1	5	1	2	3	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr6:131913582T>C	ENST00000403834.3	-	25	3608	c.3435A>G	c.(3433-3435)agA>agG	p.R1145R	MED23_ENST00000368068.3_Silent_p.R1139R|MED23_ENST00000368058.1_Silent_p.R1145R|MED23_ENST00000545957.1_Silent_p.R780R|MED23_ENST00000479213.1_5'UTR|MED23_ENST00000354577.4_Silent_p.R1145R|MED23_ENST00000368060.3_Silent_p.R1139R			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	1139					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		TAATGTTCTCTCTTGGCACTA	0.353													C	131913582	T	C	131913582	2	2	596	1	0	0	0	0	0	0	0	1	9516	1548	54	3		3	MED23	6	131913582	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	95744173	131913582	39201485	14	49989											
AKAP9	10142	broad.mit.edu	37	chr7	91732039	91732039	+	Frame_Shift_Del	DEL	G	G	-																															ttggccctgcttgcccggatGggggggcagccagctttcac																								rs143306820		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:91732039delG	ENST00000359028.2	+	46	11466	c.11241delG	c.(11239-11241)atgfs	p.M3747fs	AKAP9_ENST00000358100.2_Frame_Shift_Del_p.M3693fs|AKAP9_ENST00000356239.3_Frame_Shift_Del_p.M3743fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3747					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCCCGGATGGGGGGGCAGC	0.537			T	BRAF	papillary thyroid								-	91732039	G	-	91732039	7	5	596	1	0	1	0	1	0	0	0	0	459	1348	47	0	11411	0	AKAP9	7	91732039	Frame_Shift_Del	DEL	G	TCGA-HT-A5R7-01A-11D-A289-08		91732039	67406624	15	49990											
MUC17	140453	broad.mit.edu	37	chr7	100684757	100684757	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcaccacgccagtggtcAgttctgaggctagcaccctt	8	9	10	14	1	3	1	2	1	1	0	3	1	3	1	3	2	2	4	3	2	1	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr7:100684757A>T	ENST00000306151.4	+	3	10124	c.10060A>T	c.(10060-10062)Agt>Tgt	p.S3354C		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3354	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)					GCCAGTGGTCAGTTCTGAGGC	0.483													T	100684757	A	T	100684757	3	4	596	1	0	0	0	0	1	0	0	0	10050	188	7	5	10070	5	MUC17	7	100684757	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	8952718	100684757	58453906	16	49991											
GRHL2	79977	broad.mit.edu	37	chr8	102582593	102582593	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggagtgcttcagttggggcTgaggagtacatgtatgatca	9	11	15	6	1	2	2	2	2	0	0	2	4	2	4	0	4	2	5	0	4	2	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr8:102582593T>G	ENST00000251808.3	+	5	1043	c.705T>G	c.(703-705)gcT>gcG	p.A235A	GRHL2_ENST00000395927.1_Silent_p.A219A	NM_024915.3	NP_079191.2	Q6ISB3	GRHL2_HUMAN	grainyhead-like 2 (Drosophila)	235						cytoplasm|nucleus	DNA binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28	all_cancers(14;4.39e-08)|all_epithelial(15;4.09e-10)|Lung NSC(17;7.11e-06)|all_lung(17;1.44e-05)		Epithelial(11;5.81e-09)|all cancers(13;3.81e-07)|OV - Ovarian serous cystadenocarcinoma(57;0.000213)			CAGTTGGGGCTGAGGAGTACA	0.343													G	102582593	T	G	102582593	2	3	596	1	0	0	0	0	0	0	0	1	6819	1567	55	5		5	GRHL2	8	102582593	Silent	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08		102582593	43781429	17	49992											
GKAP1	80318	broad.mit.edu	37	chr9	86383805	86383821	+	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	AATAAGAATTTTATGAA	-																															tgttctcttcgtttttctctAataagaattttatgaacatc																										TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:86383805_86383821delAATAAGAATTTTATGAA	ENST00000376371.2	-	8	1050_1066	c.650_666delTTCATAAAATTCTTATT	c.(649-666)gttcataaaattcttattfs	p.VHKILI217fs	GKAP1_ENST00000376365.3_Intron	NM_025211.3	NP_079487.2	Q5VSY0	GKAP1_HUMAN	G kinase anchoring protein 1	217					signal transduction	Golgi apparatus				endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	14						GTTTTTCTCTAATAAGAATTTTATGAACATCATCTTC	0.318													-	86383821	AATAAGAATTTTATGAA	-	86383805	7	5	596	1	0	1	0	1	0	0	0	0	6479	358	13	0	458	0	GKAP1	9	86383805	Frame_Shift_Del	DEL	AATAAGAATTTTATGAA	TCGA-HT-A5R7-01A-11D-A289-08		86383805	54829626	18	49993											
S1PR3	1903	broad.mit.edu	37	chr9	91616909	91616909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcttcatcctcttcctcaTtgatgtggcctgcagggtgc	5	14	9	13	0	4	1	2	1	2	0	6	1	6	1	3	2	2	1	3	2	0	3	rs145125543	byFrequency	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr9:91616909T>C	ENST00000375846.3	+	1	5489	c.794T>C	c.(793-795)aTt>aCt	p.I265T	S1PR3_ENST00000358157.2_Missense_Mutation_p.I265T			Q99500	S1PR3_HUMAN	sphingosine-1-phosphate receptor 3	265					anatomical structure morphogenesis|elevation of cytosolic calcium ion concentration|inflammatory response|positive regulation of cell proliferation	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.I265T(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(1)	34						CTCTTCCTCATTGATGTGGCC	0.587													C	91616909	T	C	91616909	3	2	596	1	0	0	0	0	1	0	0	0	13886	1493	52	3	796	3	S1PR3	9	91616909	Missense_Mutation	SNP	T	TCGA-HT-A5R7-01A-11D-A289-08	5233104	91616909	49596522	19	49994											
MYEOV	26579	broad.mit.edu	37	chr11	69063311	69063311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagacgtggacgtgtccCgggccaggagggtcacagat	10	5	16	10	3	1	3	1	0	0	3	2	5	2	5	2	4	0	0	2	4	1	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr11:69063311C>T	ENST00000535407.1	+	2	863	c.220C>T	c.(220-222)Cgg>Tgg	p.R74W	MYEOV_ENST00000441339.2_Missense_Mutation_p.R132W|MYEOV_ENST00000308946.3_Missense_Mutation_p.R132W			Q96EZ4	MYEOV_HUMAN	myeloma overexpressed	132										endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|urinary_tract(1)	24	all_lung(4;2.21e-19)|Lung NSC(4;6.13e-19)|Melanoma(5;0.00128)		LUSC - Lung squamous cell carcinoma(11;3.33e-11)|STAD - Stomach adenocarcinoma(18;0.00654)|LUAD - Lung adenocarcinoma(13;0.0713)	Kidney(183;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(183;3.23e-08)|Lung(977;0.00361)|LUSC - Lung squamous cell carcinoma(976;0.0153)		GGACGTGTCCCGGGCCAGGAG	0.617													T	69063311	C	T	69063311	3	4	596	1	0	0	0	0	1	0	0	0	10101	643	23	1	400	1	MYEOV	11	69063311	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		69063311	65943205	20	49995											
ANO2	57101	broad.mit.edu	37	chr12	5672710	5672710	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggaatcatccagtccacgaGgacgctcaggaacatcacga	13	6	10	12	3	3	0	3	0	0	0	5	5	5	3	2	3	1	1	2	3	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:5672710G>C	ENST00000356134.5	-	27	2826	c.2755C>G	c.(2755-2757)Ctc>Gtc	p.L919V	ANO2_ENST00000327087.8_Missense_Mutation_p.L918V|ANO2_ENST00000546188.1_Missense_Mutation_p.L919V	NM_001278596.1	NP_001265525.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	923						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CAGTCCACGAGGACGCTCAGG	0.552													C	5672710	G	C	5672710	3	2	596	1	0	0	0	0	1	0	0	0	697	1000	35	4	248	4	ANO2	12	5672710	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		5672710	128179185	21	49996											
NUP107	57122	broad.mit.edu	37	chr12	69125432	69125432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactgtagttgagaatattcGaaagaaagataatggtgaat	18	11	10	2	1	0	4	0	2	0	3	1	6	0	4	0	1	1	2	0	1	8	5			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:69125432G>A	ENST00000229179.4	+	22	2263	c.1931G>A	c.(1930-1932)cGa>cAa	p.R644Q	NUP107_ENST00000539906.1_Missense_Mutation_p.R615Q|NUP107_ENST00000378905.2_Intron	NM_020401.2	NP_065134.1	P57740	NU107_HUMAN	nucleoporin 107kDa	644					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding		NUP107/LGR5(2)	breast(3)|endometrium(4)|kidney(4)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(2)	39	Breast(13;6.25e-06)		Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.00694)			GAGAATATTCGAAAGAAAGAT	0.353													A	69125432	G	A	69125432	3	1	596	1	0	0	0	0	1	0	0	0	10829	1058	37	1	2017	1	NUP107	12	69125432	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	63452722	69125432	64726463	22	49997											
SLC5A8	160728	broad.mit.edu	37	chr12	101577988	101577988	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcagaatgtccagtaccaAataaggcatgagctgaaaaa	17	8	9	7	0	0	3	0	2	0	1	1	3	1	3	2	1	3	4	2	1	6	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr12:101577988A>T	ENST00000536262.2	-	8	1534	c.976T>A	c.(976-978)Ttg>Atg	p.L326M		NM_145913.3	NP_666018.3	Q8N695	SC5A8_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8	326					apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						TCCAGTACCAAATAAGGCATG	0.363													T	101577988	A	T	101577988	3	4	596	1	0	0	0	0	1	0	0	0	14765	11	1	5	888	5	SLC5A8	12	101577988	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	32452556	101577988	32273907	23	49998											
CKMT1A	548596	broad.mit.edu	37	chr15	43991229	43991229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgattgattgtgaacggcGtctggagagaggccaggata	10	11	15	5	2	1	4	0	3	1	1	1	7	1	6	1	4	1	0	1	4	2	4			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:43991229G>A	ENST00000413453.2	+	9	1720	c.1196G>A	c.(1195-1197)cGt>cAt	p.R399H	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Missense_Mutation_p.R399H			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	399	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TGTGAACGGCGTCTGGAGAGA	0.493													A	43991229	G	A	43991229	3	1	596	1	0	0	0	0	1	0	0	0	3480	1145	40	1	1230	1	CKMT1A	15	43991229	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		43991229	58540163	24	49999											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	8	7	13	13	1	2	0	1	0	1	0	3	1	3	1	3	3	3	4	3	3	3	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													A	90775542	C	A	90775542	3	1	596	1	0	0	0	0	1	0	0	0	3450	478	17	4	491	4	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	46784313	90775542	11755850	25	50000											
GRIN2A	2903	broad.mit.edu	37	chr16	10274071	10274071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagagctaccacgttcacGtccaggggcagccccgccgc	8	4	12	17	4	1	1	1	0	0	1	2	1	2	1	5	2	4	4	5	2	1	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:10274071G>A	ENST00000396573.2	-	3	507	c.198C>T	c.(196-198)gaC>gaT	p.D66D	GRIN2A_ENST00000330684.3_Silent_p.D66D|GRIN2A_ENST00000396575.2_Silent_p.D66D|GRIN2A_ENST00000562109.1_Silent_p.D66D|GRIN2A_ENST00000404927.2_Silent_p.D66D	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	66					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CCACGTTCACGTCCAGGGGCA	0.642													A	10274071	G	A	10274071	2	1	596	1	0	0	0	0	0	0	0	1	6834	1136	40	1		1	GRIN2A	16	10274071	Silent	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		10274071	80080682	26	50001											
NOL3	8996	broad.mit.edu	37	chr16	67208077	67208077	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccatgcagccccgacaatggGcaacgcgcaggagcggccgt	9	3	14	15	5	0	0	0	0	0	0	0	2	0	1	4	3	4	3	4	3	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr16:67208077G>A	ENST00000432069.2	+	4	577	c.5G>A	c.(4-6)gGc>gAc	p.G2D	NOL3_ENST00000568146.1_Missense_Mutation_p.G2D|NOL3_ENST00000268605.7_Missense_Mutation_p.G2D|NOL3_ENST00000564053.1_Missense_Mutation_p.G64D	NM_001276309.1|NM_001276312.1|NM_001276319.1	NP_001263238.1|NP_001263241.1|NP_001263248.1	O60936	NOL3_HUMAN	nucleolar protein 3 (apoptosis repressor with CARD domain)	2					anti-apoptosis|apoptosis|mRNA processing|RNA splicing	cytosol|nucleolus	identical protein binding|RNA binding			ovary(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0143)|Epithelial(162;0.0335)|all cancers(182;0.184)		CCGACAATGGGCAACGCGCAG	0.672													A	67208077	G	A	67208077	3	1	596	1	0	0	0	0	1	0	0	0	10599	1203	42	2	7	2	NOL3	16	67208077	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	56934006	67208077	23146676	27	50002											
FOXN1	8456	broad.mit.edu	37	chr17	26861989	26861989	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcctggcccctcctggacCcccgcagccattgttcccac	5	7	9	20	1	0	0	0	0	0	0	2	1	2	1	8	3	1	2	8	3	0	2			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:26861989C>A	ENST00000226247.2	+	7	1429	c.1400C>A	c.(1399-1401)cCc>cAc	p.P467H	FOXN1_ENST00000579795.1_Missense_Mutation_p.P467H	NM_003593.2	NP_003584.2	O15353	FOXN1_HUMAN	forkhead box N1	467					defense response|embryo development|epithelial cell proliferation|keratinocyte differentiation|organ morphogenesis|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|thymus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			endometrium(1)|large_intestine(3)|lung(8)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Lung NSC(42;0.00431)					CCTCCTGGACCCCCGCAGCCA	0.677													A	26861989	C	A	26861989	3	1	596	1	0	0	0	0	1	0	0	0	6070	623	22	4	1426	4	FOXN1	17	26861989	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		26861989	54333221	28	50003											
KRTAP4-9	100132386	broad.mit.edu	37	chr17	39261778	39261778	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccgccccagctgttgtgtAtccagctgctgcaggcccca	5	9	11	16	1	0	0	0	0	0	0	1	0	1	0	6	1	5	6	6	1	1	2	rs143952367	by1000genomes	TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:39261778A>G	ENST00000391415.1	+	1	195	c.138A>G	c.(136-138)gtA>gtG	p.V46V		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	46	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].					keratin filament				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						GCTGTTGTGTATCCAGCTGCT	0.652													G	39261778	A	G	39261778	2	3	596	1	0	0	0	0	0	0	0	1	8616	436	16	3		3	KRTAP4-9	17	39261778	Silent	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	12399789	39261778	41933432	29	50004											
BAIAP2	10458	broad.mit.edu	37	chr17	79059482	79059482	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttttcacaacgagctgcttaCgcagctggagcagaaggtgg	10	9	13	9	2	1	1	1	0	0	1	1	3	1	2	0	3	6	5	0	3	3	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr17:79059482C>T	ENST00000321300.6	+	5	401	c.308C>T	c.(307-309)aCg>aTg	p.T103M	BAIAP2_ENST00000428708.2_Missense_Mutation_p.T103M|BAIAP2_ENST00000575712.1_Missense_Mutation_p.T103M|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000575245.1_Missense_Mutation_p.T136M|BAIAP2_ENST00000392411.3_Missense_Mutation_p.T25M|BAIAP2_ENST00000321280.7_Missense_Mutation_p.T103M|BAIAP2_ENST00000435091.3_Missense_Mutation_p.T103M	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	103	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			GAGCTGCTTACGCAGCTGGAG	0.602													T	79059482	C	T	79059482	3	4	596	1	0	0	0	0	1	0	0	0	1306	536	19	1	326	1	BAIAP2	17	79059482	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	39797704	79059482	2135728	30	50005											
DEDD2	162989	broad.mit.edu	37	chr19	42721095	42721095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacggtgaagcgacagcatcCcgtagtagtccaggcactca	11	7	11	12	3	1	1	1	1	0	0	3	2	3	1	2	2	3	4	2	2	4	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:42721095C>T	ENST00000595337.1	-	2	152	c.65G>A	c.(64-66)gGg>gAg	p.G22E	DEDD2_ENST00000598727.1_Missense_Mutation_p.G22E|DEDD2_ENST00000336034.4_Missense_Mutation_p.G22E|DEDD2_ENST00000593804.1_Intron|DEDD2_ENST00000596251.1_Missense_Mutation_p.G22E	NM_001270614.1	NP_001257543.1	Q8WXF8	DEDD2_HUMAN	death effector domain containing 2	22					activation of pro-apoptotic gene products|apoptotic nuclear change|cellular homeostasis|induction of apoptosis via death domain receptors|intracellular signal transduction|negative regulation of transcription, DNA-dependent|RNA processing|rRNA catabolic process|transcription, DNA-dependent	nucleolus	DNA binding|receptor signaling complex scaffold activity			endometrium(1)|large_intestine(1)|ovary(1)|prostate(2)	5		Prostate(69;0.0704)				CGACAGCATCCCGTAGTAGTC	0.662													T	42721095	C	T	42721095	3	4	596	1	0	0	0	0	1	0	0	0	4419	623	22	2	931	2	DEDD2	19	42721095	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		42721095	16407888	31	50006											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628473	51628473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccacaaacaacccagctcGggcagtgtgggaggagactc	11	4	14	12	1	0	1	0	0	0	1	2	3	0	2	2	4	3	2	2	4	2	0	rs151265101		TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr19:51628473G>A	ENST00000440804.3	+	1	309	c.242G>A	c.(241-243)cGg>cAg	p.R81Q	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.R81Q	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	81	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AACCCAGCTCGGGCAGTGTGG	0.572													A	51628473	G	A	51628473	3	1	596	1	0	0	0	0	1	0	0	0	14409	1116	39	1	244	1	SIGLEC9	19	51628473	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08	8907378	51628473	7500510	32	50007											
TMPRSS15	5651	broad.mit.edu	37	chr21	19647644	19647644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttcttgcaatatgtttGcagtagtacctgctcaaaat	11	14	7	9	0	2	0	1	0	1	0	2	0	2	0	1	0	5	7	1	0	6	6			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr21:19647644G>T	ENST00000284885.3	-	24	2807	c.2774C>A	c.(2773-2775)gCa>gAa	p.A925E		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	925	Peptidase S1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						CAATATGTTTGCAGTAGTACC	0.398													T	19647644	G	T	19647644	3	4	596	1	0	0	0	0	1	0	0	0	16346	1319	46	4	293	4	TMPRSS15	21	19647644	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		19647644	28482251	33	50008											
CACNA1I	8911	broad.mit.edu	37	chr22	40066233	40066233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctggagaagaagcgccGgagtgagtgggtgcctgtgg	7	6	20	8	3	0	3	0	1	0	2	0	5	0	4	3	4	2	0	3	4	2	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chr22:40066233G>A	ENST00000336649.4	+	28	4403	c.4403G>A	c.(4402-4404)cGg>cAg	p.R1468Q	CACNA1I_ENST00000407673.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000400164.3_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R1427Q|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R1462Q|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R1462Q			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1462					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	AAGAAGCGCCGGAGTGAGTGG	0.667													A	40066233	G	A	40066233	3	1	596	1	0	0	0	0	1	0	0	0	2572	1116	39	1	4483	1	CACNA1I	22	40066233	Missense_Mutation	SNP	G	TCGA-HT-A5R7-01A-11D-A289-08		40066233	11238333	34	50009											
XG	7499	broad.mit.edu	37	chrX	2729413	2729413	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aatcgtgtctcccatcgtatCcgtggtggtggtgacactgc	6	12	12	11	3	1	1	0	1	1	0	5	1	2	1	2	3	1	1	2	3	2	1			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:2729413C>G	ENST00000426774.1	+	9	672	c.449C>G	c.(448-450)tCc>tGc	p.S150C	XG_ENST00000419513.2_Missense_Mutation_p.S164C|XG_ENST00000381174.5_Missense_Mutation_p.S149C	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	149						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		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)				CCCATCGTATCCGTGGTGGTG	0.448													G	2729413	C	G	2729413	3	3	596	1	0	0	0	0	1	0	0	0	17529	855	30	4	532	4	XG	23	2729413	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08		2729413	152541147	35	50010											
FAM47B	170062	broad.mit.edu	37	chrX	34961355	34961355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcccttggccatgtaccccaAtctgggaaaagatatgcctc	10	10	8	13	0	1	1	0	0	1	1	3	2	2	2	5	2	2	1	5	2	5	3			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:34961355A>G	ENST00000329357.5	+	1	443	c.407A>G	c.(406-408)aAt>aGt	p.N136S		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	136										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						ATGTACCCCAATCTGGGAAAA	0.567													G	34961355	A	G	34961355	3	3	596	1	0	0	0	0	1	0	0	0	5621	101	4	3	409	3	FAM47B	23	34961355	Missense_Mutation	SNP	A	TCGA-HT-A5R7-01A-11D-A289-08	32231942	34961355	120309205	36	50011											
ATRX	546	broad.mit.edu	37	chrX	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C																															tgttttccagttctttttttINScccttcttctggctcatcat																										TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:76920179_76920180insC	ENST00000373344.5	-	11	4111_4112	c.3897_3898insG	c.(3895-3900)gggaaafs	p.K1300fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1262fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1300					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)	GTTCTTTTTTTCCCTTCTTCTG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76920180	-	C	76920179	7	5	596	1	0	1	1	0	0	0	0	0	1213	1792	62	0	3680	0	ATRX	23	76920179	Frame_Shift_Ins	INS	-	TCGA-HT-A5R7-01A-11D-A289-08	41958824	76920179	78350381	37	50012											
ZNF280C	55609	broad.mit.edu	37	chrX	129354401	129354401	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttatgttcagctttctcCttgctggtcaaaaattgtag	8	16	8	9	0	3	0	2	0	1	0	4	0	3	0	2	1	2	4	2	1	4	6			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:129354401C>G	ENST00000370978.4	-	13	1602	c.1449G>C	c.(1447-1449)aaG>aaC	p.K483N		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	483					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						CAGCTTTCTCCTTGCTGGTCA	0.383													G	129354401	C	G	129354401	3	3	596	1	0	0	0	0	1	0	0	0	17917	680	24	4	792	4	ZNF280C	23	129354401	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	52434222	129354401	25916159	38	50013											
GPC4	2239	broad.mit.edu	37	chrX	132548972	132548972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagggtgcagagaagcgCgggcaagccgaaccgtgcca	10	3	16	12	4	0	1	0	0	0	1	0	3	0	1	4	2	6	2	4	2	3	0			TCGA-HT-A5R7-01A-11D-A289-08	TCGA-HT-A5R7-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7c6a6736-02cf-41d3-9a6b-2d75e0b72bf5	45ec553b-1e7a-4b3c-86a1-c3f1547c1b43	g.chrX:132548972C>T	ENST00000370828.3	-	1	546	c.22G>A	c.(22-24)Gcg>Acg	p.A8T		NM_001448.2	NP_001439.2	O75487	GPC4_HUMAN	glypican 4	8					anatomical structure morphogenesis|cell proliferation	anchored to membrane|external side of plasma membrane|extracellular space|insoluble fraction|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	28	Acute lymphoblastic leukemia(192;0.000127)					CAGAGAAGCGCGGGCAAGCCG	0.687													T	132548972	C	T	132548972	3	4	596	1	0	0	0	0	1	0	0	0	6654	768	27	1	1684	1	GPC4	23	132548972	Missense_Mutation	SNP	C	TCGA-HT-A5R7-01A-11D-A289-08	3194571	132548972	22721588	39	50014											
PTPRF	5792	broad.mit.edu	37	chr1	44019524	44019524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttcggatccagccattgcgGgtgcagcgagatgaagccat	9	8	13	11	3	0	2	0	1	0	1	2	4	1	3	3	2	5	1	3	2	1	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:44019524G>A	ENST00000359947.4	+	5	631	c.291G>A	c.(289-291)cgG>cgA	p.R97R	PTPRF_ENST00000372413.3_Silent_p.R97R|PTPRF_ENST00000372414.3_Silent_p.R97R|PTPRF_ENST00000438120.1_Silent_p.R97R	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	97	Ig-like C2-type 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCCATTGCGGGTGCAGCGAG	0.542													A	44019524	G	A	44019524	2	1	597	1	0	0	0	0	0	0	0	1	12889	1219	43	2		2	PTPRF	1	44019524	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		44019524	205231097	1	50015											
OR6K2	81448	broad.mit.edu	37	chr1	158669721	158669721	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgaagtgagagacacacGtggaaaatgctgtgcggcgg	13	6	15	7	3	0	3	0	2	0	1	0	5	0	4	0	3	2	1	0	3	4	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:158669721G>A	ENST00000359610.2	-	1	765	c.722C>T	c.(721-723)aCg>aTg	p.T241M		NM_001005279.1	NP_001005279.1	Q8NGY2	OR6K2_HUMAN	olfactory receptor, family 6, subfamily K, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(22)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	46	all_hematologic(112;0.0378)					AGAGACACACGTGGAAAATGC	0.463													A	158669721	G	A	158669721	3	1	597	1	0	0	0	0	1	0	0	0	11278	1145	40	1	256	1	OR6K2	1	158669721	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	114650197	158669721	90580900	2	50016											
NOS1AP	9722	broad.mit.edu	37	chr1	162313698	162313698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagctgagcctgcagcacaCgcagcagaatgcagatggcc	12	4	12	13	1	0	3	0	1	0	2	0	3	0	3	2	1	6	6	2	1	2	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:162313698C>T	ENST00000361897.5	+	6	929	c.527C>T	c.(526-528)aCg>aTg	p.T176M	NOS1AP_ENST00000530878.1_Missense_Mutation_p.T171M	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	176	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CTGCAGCACACGCAGCAGAAT	0.582													T	162313698	C	T	162313698	3	4	597	1	0	0	0	0	1	0	0	0	10618	536	19	1	549	1	NOS1AP	1	162313698	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3643977	162313698	86936923	3	50017											
KDM5B	10765	broad.mit.edu	37	chr1	202705465	202705465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagatgtacggggatagatCggcctcgtgtaacaagttct	10	11	12	8	3	2	2	1	0	1	2	4	3	2	3	1	3	2	3	1	3	4	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:202705465C>T	ENST00000367265.3	-	21	4304	c.3140G>A	c.(3139-3141)cGa>cAa	p.R1047Q	KDM5B_ENST00000367264.2_Missense_Mutation_p.R1083Q	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	1047					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						GGGGATAGATCGGCCTCGTGT	0.428													T	202705465	C	T	202705465	3	4	597	1	0	0	0	0	1	0	0	0	8192	884	31	1	1522	1	KDM5B	1	202705465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	40391767	202705465	46545156	4	50018											
MAPKAPK2	9261	broad.mit.edu	37	chr1	206904037	206904037	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctttgatttgcagctccAgaagtgctgggtccagagaa	10	10	12	9	0	0	3	0	1	0	2	2	5	2	3	3	1	3	3	3	1	2	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr1:206904037A>C	ENST00000367103.3	+	6	889	c.696A>C	c.(694-696)ccA>ccC	p.P232P	MAPKAPK2_ENST00000294981.4_Silent_p.P232P	NM_004759.4|NM_032960.3	NP_004750.1|NP_116584.2	P49137	MAPK2_HUMAN	mitogen-activated protein kinase-activated protein kinase 2	232	Protein kinase.				activation of MAPK activity|hormone biosynthetic process|innate immune response|leukotriene biosynthetic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|prostanoid metabolic process|Ras protein signal transduction|stress-activated MAPK cascade|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|protein binding|protein serine/threonine kinase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	19	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			TTGCAGCTCCAGAAGTGCTGG	0.552													C	206904037	A	C	206904037	2	2	597	1	0	0	0	0	0	0	0	1	9364	175	7	5		5	MAPKAPK2	1	206904037	Silent	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	4198572	206904037	42346584	5	50019											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													G	74757186	-	G	74757185	7	5	597	1	0	1	1	0	0	0	0	0	7512	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5R9-01A-11D-A289-08		74757185	168442188	6	50020											
REV1	51455	broad.mit.edu	37	chr2	100055074	100055076	+	In_Frame_Del	DEL	ACA	ACA	-																															agtatctacctgtgtcagttAcaacaagtgcagacctgcct																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:100055074_100055076delACA	ENST00000258428.3	-	6	1428_1430	c.1200_1202delTGT	c.(1198-1203)gttgta>gta	p.400_401VV>V	REV1_ENST00000465835.1_5'UTR|REV1_ENST00000393445.3_In_Frame_Del_p.400_401VV>V	NM_001037872.1|NM_016316.2	NP_001032961.1|NP_057400.1	Q9UBZ9	REV1_HUMAN	REV1, polymerase (DNA directed)	400					DNA replication|error-prone translesion synthesis|response to UV	nucleoplasm	damaged DNA binding|DNA-directed DNA polymerase activity|magnesium ion binding|protein binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(12)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGTGTCAGTTACAACAAGTGCAG	0.335								Direct reversal of damage					-	100055076	ACA	-	100055074	7	5	597	1	0	1	0	1	0	0	0	0	13327	391	14	0	2625	0	REV1	2	100055074	In_Frame_Del	DEL	ACA	TCGA-HT-A5R9-01A-11D-A289-08	25297889	100055074	143144299	7	50021											
SMPD4	55627	broad.mit.edu	37	chr2	130930223	130930225	+	In_Frame_Del	DEL	AAG	AAG	-																															gagtgatgaggctcaaggcaAagaagaatatgtaatactcg																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:130930223_130930225delAAG	ENST00000409031.1	-	7	1745_1747	c.597_599delCTT	c.(595-600)ttcttt>ttt	p.199_200FF>F	SMPD4_ENST00000453750.1_Intron|SMPD4_ENST00000431183.2_In_Frame_Del_p.126_127FF>F|SMPD4_ENST00000443958.2_Intron|SMPD4_ENST00000351288.6_In_Frame_Del_p.199_200FF>F|SMPD4_ENST00000339679.7_In_Frame_Del_p.86_87FF>F|SMPD4_ENST00000473720.1_Intron|SMPD4_ENST00000426662.2_Intron|SMPD4_ENST00000452225.2_Intron	NM_017951.4	NP_060421.2	Q9NXE4	NSMA3_HUMAN	sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3)	160					sphingomyelin catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|trans-Golgi network	metal ion binding|protein binding|sphingomyelin phosphodiesterase activity|sphingomyelin phosphodiesterase D activity			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(17)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29	Colorectal(110;0.1)				Phosphatidylserine(DB00144)	gctcaaggcaaagaagaatatgt	0.571													-	130930225	AAG	-	130930223	7	5	597	1	0	1	0	1	0	0	0	0	14901	14	1	0	2057	0	SMPD4	2	130930223	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08	30875149	130930223	112269150	8	50022											
DPP4	1803	broad.mit.edu	37	chr2	162851494	162851494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctggaaatccactccaaCatcgaccagggctttggaga	11	8	10	12	1	0	1	0	0	0	1	3	4	2	2	4	3	2	1	4	3	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:162851494C>T	ENST00000360534.3	-	25	2736	c.2176G>A	c.(2176-2178)Gtt>Att	p.V726I	DPP4_ENST00000491591.1_5'UTR	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	726					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	TCCACTCCAACATCGACCAGG	0.453													T	162851494	C	T	162851494	3	4	597	1	0	0	0	0	1	0	0	0	4768	478	17	2	132	2	DPP4	2	162851494	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	31921271	162851494	80347879	9	50023											
GIGYF2	26058	broad.mit.edu	37	chr2	233714984	233714984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttcacaggactctgtgtggGggatgaaccacagtacactc	10	10	11	10	0	2	1	1	1	1	0	3	3	2	3	1	3	2	1	1	3	2	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr2:233714984G>A	ENST00000373566.3	+	29	3960	c.3763G>A	c.(3763-3765)Ggg>Agg	p.G1255R	GIGYF2_ENST00000409480.1_Missense_Mutation_p.G1255R|GIGYF2_ENST00000373563.4_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409451.3_Missense_Mutation_p.G1254R|GIGYF2_ENST00000409547.1_Missense_Mutation_p.G1233R|GIGYF2_ENST00000409196.3_Missense_Mutation_p.G1227R			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1233					cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		CTCTGTGTGGGGGATGAACCA	0.433													A	233714984	G	A	233714984	3	1	597	1	0	0	0	0	1	0	0	0	6434	1232	43	2	3869	2	GIGYF2	2	233714984	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	70863490	233714984	9484389	10	50024											
GPR128	84873	broad.mit.edu	37	chr3	100373800	100373800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaacttgcagacaagtgatGgtgacatcaataatattgac	16	10	9	6	0	1	5	1	3	0	2	1	5	1	5	0	1	2	1	0	1	5	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:100373800G>A	ENST00000273352.3	+	12	1769	c.1501G>A	c.(1501-1503)Ggt>Agt	p.G501S	GPR128_ENST00000481506.1_3'UTR|GPR128_ENST00000475887.1_Missense_Mutation_p.G206S	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	501					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						GACAAGTGATGGTGACATCAA	0.408													A	100373800	G	A	100373800	3	1	597	1	0	0	0	0	1	0	0	0	6695	1348	47	2	1547	2	GPR128	3	100373800	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		100373800	97648630	11	50025											
GPR156	165829	broad.mit.edu	37	chr3	119885960	119885960	+	Frame_Shift_Del	DEL	C	C	-																															agcttttcccaggaagccagCcccccagtaggctcagggtc																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:119885960delC	ENST00000464295.1	-	10	2809	c.2364delG	c.(2362-2364)gggfs	p.G788fs	GPR156_ENST00000461057.1_Frame_Shift_Del_p.G784fs|GPR156_ENST00000315843.3_Frame_Shift_Del_p.G788fs			Q8NFN8	GP156_HUMAN	G protein-coupled receptor 156	788						integral to membrane|plasma membrane	G-protein coupled receptor activity|GABA-B receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|ovary(1)|prostate(1)|skin(1)	32				GBM - Glioblastoma multiforme(114;0.19)		AGGAAGCCAGCCCCCCAGTAG	0.552													-	119885960	C	-	119885960	7	5	597	1	0	1	0	1	0	0	0	0	6715	726	26	0	84	0	GPR156	3	119885960	Frame_Shift_Del	DEL	C	TCGA-HT-A5R9-01A-11D-A289-08	19512160	119885960	78136470	12	50026											
ACPP	55	broad.mit.edu	37	chr3	132086622	132086622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tactactgtttatccacattCgccgtggactctgctggcag	7	13	9	12	2	1	0	0	0	1	0	3	1	2	1	2	2	3	3	2	2	3	5			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr3:132086622C>T	ENST00000351273.7	+	11	1263	c.1213C>T	c.(1213-1215)Cgc>Tgc	p.R405C		NM_001134194.1	NP_001127666.1	P15309	PPAP_HUMAN	acid phosphatase, prostate	0						extracellular region|lysosomal membrane	5'-nucleotidase activity|acid phosphatase activity			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						TATCCACATTCGCCGTGGACT	0.463													T	132086622	C	T	132086622	3	4	597	1	0	0	0	0	1	0	0	0	167	884	31	1	1278	1	ACPP	3	132086622	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12200662	132086622	65935808	13	50027											
RBPJ	3516	broad.mit.edu	37	chr4	26426014	26426017	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															tgtttaatcgactacgatccCagacagttagtaccagatac																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr4:26426014_26426017delCAGA	ENST00000342320.4	+	6	720_723	c.544_547delCAGA	c.(544-549)cagacafs	p.QT182fs	RBPJ_ENST00000504907.1_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.QT183fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.QT182fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.QT196fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.QT161fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.QT181fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	196					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				ACTACGATCCCAGACAGTTAGTAC	0.422													-	26426017	CAGA	-	26426014	7	5	597	1	0	1	0	1	0	0	0	0	13249	595	21	0	671	0	RBPJ	4	26426014	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08		26426014	164728262	14	50028											
DDX4	54514	broad.mit.edu	37	chr5	55075828	55075828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taattcagaagcttcagggcCatacagaagaggtggaagag	15	7	13	6	0	2	4	2	0	0	4	2	5	2	5	1	3	2	1	1	3	5	4	rs137993034		TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:55075828C>T	ENST00000505374.1	+	8	523	c.431C>T	c.(430-432)cCa>cTa	p.P144L	DDX4_ENST00000354991.5_Intron|DDX4_ENST00000511853.1_Intron|DDX4_ENST00000514278.2_Missense_Mutation_p.P124L|DDX4_ENST00000353507.5_Intron	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	144	Gly-rich.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GCTTCAGGGCCATACAGAAGA	0.413													T	55075828	C	T	55075828	3	4	597	1	0	0	0	0	1	0	0	0	4394	594	21	2	498	2	DDX4	5	55075828	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		55075828	125839432	15	50029											
HBEGF	1839	broad.mit.edu	37	chr5	139715486	139715489	+	Frame_Shift_Del	DEL	CAGA	CAGA	-																															agaagccccacgatgaccagCagacagacagatgacagcac																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:139715486_139715489delCAGA	ENST00000230990.6	-	4	824_827	c.522_525delTCTG	c.(520-525)tgtctgfs	p.CL174fs	HBEGF_ENST00000507104.1_Frame_Shift_Del_p.CL174fs	NM_001945.2	NP_001936.1	Q99075	HBEGF_HUMAN	heparin-binding EGF-like growth factor	174					epidermal growth factor receptor signaling pathway|muscle organ development|positive regulation of protein kinase B signaling cascade|positive regulation of wound healing	cell surface|extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|eukaryotic cell surface binding|growth factor activity|heparin binding|receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)	7			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGATGACCAGCAGACAGACAGATG	0.554													-	139715489	CAGA	-	139715486	7	5	597	1	0	1	0	1	0	0	0	0	7036	697	25	0	109	0	HBEGF	5	139715486	Frame_Shift_Del	DEL	CAGA	TCGA-HT-A5R9-01A-11D-A289-08	84639658	139715486	41199774	16	50030											
PCDHGA7	56108	broad.mit.edu	37	chr5	140763850	140763850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catcctactcagtctacatcGctgagaacaaccccagaggg	12	7	8	14	1	2	2	1	1	1	2	4	3	3	2	3	1	4	1	3	1	4	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr5:140763850G>A	ENST00000518325.1	+	1	1384	c.1384G>A	c.(1384-1386)Gct>Act	p.A462T	PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGTCTACATCGCTGAGAACAA	0.522													A	140763850	G	A	140763850	3	1	597	1	0	0	0	0	1	0	0	0	11635	1087	38	1	1386	1	PCDHGA7	5	140763850	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	1048364	140763850	40151410	17	50031											
PTPRK	5796	broad.mit.edu	37	chr6	128294828	128294828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggcagtggataatcgtccGgccttccccttcctcgcatt	6	11	9	15	3	0	0	0	0	0	0	5	1	3	1	5	3	0	2	5	3	1	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr6:128294828G>A	ENST00000368227.3	-	29	4531	c.4165C>T	c.(4165-4167)Cgg>Tgg	p.R1389W	PTPRK_ENST00000532331.1_Missense_Mutation_p.R1394W|PTPRK_ENST00000368207.3_Missense_Mutation_p.R1404W|PTPRK_ENST00000368210.3_Missense_Mutation_p.R1390W|PTPRK_ENST00000368215.3_Missense_Mutation_p.R1371W|PTPRK_ENST00000368226.4_Missense_Mutation_p.R1372W|PTPRK_ENST00000368213.5_Missense_Mutation_p.R1378W			Q15262	PTPRK_HUMAN	protein tyrosine phosphatase, receptor type, K	1371	Tyrosine-protein phosphatase 2.				cell migration|cellular response to reactive oxygen species|cellular response to UV|focal adhesion assembly|negative regulation of cell cycle|negative regulation of cell migration|negative regulation of keratinocyte proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transforming growth factor beta receptor signaling pathway	adherens junction|cell surface|cell-cell junction|integral to plasma membrane|leading edge membrane	beta-catenin binding|gamma-catenin binding|protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity		PTPRK/RSPO3(10)	autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(14)|lung(24)|ovary(3)|pancreas(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	72				all cancers(137;0.0118)|GBM - Glioblastoma multiforme(226;0.0372)|OV - Ovarian serous cystadenocarcinoma(136;0.24)		ATAATCGTCCGGCCTTCCCCT	0.483													A	128294828	G	A	128294828	3	1	597	1	0	0	0	0	1	0	0	0	12893	1115	39	1	220	1	PTPRK	6	128294828	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		128294828	42820239	18	50032											
NPY	4852	broad.mit.edu	37	chr7	24324984	24324984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccgggcgaggacgcaccagCggaggacatggccagatact	10	3	15	13	4	0	1	0	0	0	1	0	5	0	4	3	5	2	1	3	5	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:24324984C>T	ENST00000407573.1	+	3	415	c.125C>T	c.(124-126)gCg>gTg	p.A42V	NPY_ENST00000405982.1_Missense_Mutation_p.A42V|NPY_ENST00000242152.2_Missense_Mutation_p.A42V			P01303	NPY_HUMAN	neuropeptide Y	42					adult feeding behavior|calcium ion transport|cell proliferation|cellular component movement|central nervous system neuron development|cerebral cortex development|digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|neuron projection development|neuropeptide signaling pathway|positive regulation of appetite|synaptic transmission	cell|extracellular space	calcium channel regulator activity|G-protein coupled receptor activity|neuropeptide hormone activity	p.A42V(1)		breast(1)|kidney(1)|large_intestine(4)|lung(2)|upper_aerodigestive_tract(1)	9						GACGCACCAGCGGAGGACATG	0.682													T	24324984	C	T	24324984	3	4	597	1	0	0	0	0	1	0	0	0	10683	768	27	1	127	1	NPY	7	24324984	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		24324984	134813679	19	50033											
AUTS2	26053	broad.mit.edu	37	chr7	70229866	70229866	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagcttcacacccacccTccagccccccgcacactcac	9	4	4	24	1	2	0	2	0	0	0	3	0	3	0	6	0	2	3	6	0	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr7:70229866T>C	ENST00000342771.4	+	8	1664	c.1343T>C	c.(1342-1344)cTc>cCc	p.L448P	AUTS2_ENST00000406775.2_Missense_Mutation_p.L448P	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	448										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		acacccaccctccagcccccc	0.652													C	70229866	T	C	70229866	3	2	597	1	0	0	0	0	1	0	0	0	1230	1551	54	3	1518	3	AUTS2	7	70229866	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	45904882	70229866	88908797	20	50034											
BAG4	9530	broad.mit.edu	37	chr8	38065246	38065246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtcagactgaagcacccCctcttagggggcaggttcca	9	8	11	13	0	2	2	1	1	1	1	3	2	3	2	3	3	1	3	3	3	2	2	rs150045830	byFrequency	TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:38065246C>G	ENST00000287322.4	+	3	866	c.595C>G	c.(595-597)Cct>Gct	p.P199A	BAG4_ENST00000521282.1_3'UTR|BAG4_ENST00000432471.2_Missense_Mutation_p.P163A	NM_004874.3	NP_004865.1	O95429	BAG4_HUMAN	BCL2-associated athanogene 4	199					anti-apoptosis|apoptosis|protein folding	cytoplasm|nucleus	receptor signaling protein activity			breast(1)|kidney(2)|large_intestine(2)|liver(2)|lung(2)|ovary(1)|urinary_tract(1)	11	Colorectal(12;0.000442)	all_lung(54;0.00787)|Lung NSC(58;0.0295)|Hepatocellular(245;0.121)				TGAAGCACCCCCTCTTAGGGG	0.488													G	38065246	C	G	38065246	3	3	597	1	0	0	0	0	1	0	0	0	1294	623	22	4	605	4	BAG4	8	38065246	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		38065246	108298776	21	50035											
LYPLA1	10434	broad.mit.edu	37	chr8	54963679	54963679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagagaaccaaacatcagggGaaccaaagggtcacaatccc	18	3	9	11	0	2	1	2	0	0	1	3	3	3	2	3	3	3	0	3	3	6	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr8:54963679G>A	ENST00000316963.3	-	8	725	c.532C>T	c.(532-534)Ccc>Tcc	p.P178S	LYPLA1_ENST00000343231.6_Missense_Mutation_p.P162S|LYPLA1_ENST00000522007.1_Silent_p.F57F	NM_001279360.1|NM_006330.2	NP_001266289.1|NP_006321.1	O75608	LYPA1_HUMAN	lysophospholipase I	178					fatty acid metabolic process|nitric oxide metabolic process|regulation of nitric-oxide synthase activity	cytosol	lysophospholipase activity|palmitoyl-(protein) hydrolase activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)	6		Lung NSC(129;0.109)|all_epithelial(80;0.11)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;8.48e-07)|Epithelial(17;9.29e-05)|all cancers(17;0.000689)			AACATCAGGGGAACCAAAGGG	0.413													A	54963679	G	A	54963679	3	1	597	1	0	0	0	0	1	0	0	0	9187	1174	41	2	168	2	LYPLA1	8	54963679	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	16898433	54963679	91400343	22	50036											
HDHD3	81932	broad.mit.edu	37	chr9	116136465	116136465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtagttggggaagctgtggCtctgagccctgtatgcctgc	5	11	15	10	1	1	1	0	1	1	0	1	2	1	2	2	3	4	5	2	3	3	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr9:116136465C>T	ENST00000238379.5	-	2	1067	c.170G>A	c.(169-171)aGc>aAc	p.S57N	HDHD3_ENST00000374180.3_Missense_Mutation_p.S57N|HDHD3_ENST00000485934.1_5'UTR	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	57							phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						GAAGCTGTGGCTCTGAGCCCT	0.657													T	116136465	C	T	116136465	3	4	597	1	0	0	0	0	1	0	0	0	7079	797	28	2	589	2	HDHD3	9	116136465	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		116136465	25076966	23	50037											
TCF7L2	6934	broad.mit.edu	37	chr10	114911515	114911517	+	In_Frame_Del	DEL	AAG	AAG	-																															actccaaaaaggaagaagaaAagaagaagccccacataaag																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr10:114911515_114911517delAAG	ENST00000355995.4	+	10	1540_1542	c.1033_1035delAAG	c.(1033-1035)aagdel	p.K347del	TCF7L2_ENST00000369397.4_In_Frame_Del_p.K324del|TCF7L2_ENST00000369389.1_In_Frame_Del_p.K58del|TCF7L2_ENST00000369386.1_5'UTR|TCF7L2_ENST00000534894.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000352065.5_In_Frame_Del_p.K324del|TCF7L2_ENST00000545257.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000538897.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000536810.1_In_Frame_Del_p.K347del|TCF7L2_ENST00000355717.4_In_Frame_Del_p.K371del|TCF7L2_ENST00000542695.1_In_Frame_Del_p.K63del|TCF7L2_ENST00000543371.1_In_Frame_Del_p.K347del			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	347	Mediates interaction with MAD2L2.				anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GGAAGAAGAAAAGAAGAAGCCCC	0.443			T	VTI1A	colorectal								-	114911517	AAG	-	114911515	7	5	597	1	0	1	0	1	0	0	0	0	15798	15	1	0	1216	0	TCF7L2	10	114911515	In_Frame_Del	DEL	AAG	TCGA-HT-A5R9-01A-11D-A289-08		114911515	20623232	24	50038											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													G	61161357	T	G	61161357	5	3	597	1	0	0	0	0	0	0	1	0	16239	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08		61161357	73845159	25	50039											
NUMA1	4926	broad.mit.edu	37	chr11	71733448	71733448	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctcatggtagagtggtaTaagagcagcatggtcatcta	12	10	13	6	0	3	2	2	0	1	2	3	3	3	2	0	3	3	5	0	3	4	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:71733448T>G	ENST00000393695.3	-	7	640	c.309A>C	c.(307-309)ttA>ttC	p.L103F	NUMA1_ENST00000358965.6_Missense_Mutation_p.L103F|NUMA1_ENST00000351960.6_Missense_Mutation_p.L103F	NM_006185.2	NP_006176.2	Q14980	NUMA1_HUMAN	nuclear mitotic apparatus protein 1	103					G2/M transition of mitotic cell cycle|mitotic anaphase|nucleus organization	chromosome|cytosol|nucleoplasm|spindle microtubule|spindle pole	protein binding|structural molecule activity			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(12)|lung(20)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	65						TAGAGTGGTATAAGAGCAGCA	0.522			T	RARA	APL								G	71733448	T	G	71733448	3	3	597	1	0	0	0	0	1	0	0	0	10826	1403	49	5	6122	5	NUMA1	11	71733448	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	10572091	71733448	63273068	26	50040											
SERPINH1	871	broad.mit.edu	37	chr11	75277978	75277978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaggacgtggagcgcaCggacggcgccctgctagtca	9	4	14	14	5	1	0	1	0	0	0	1	3	1	3	2	4	2	2	2	4	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:75277978C>T	ENST00000524558.1	+	2	2019	c.584C>T	c.(583-585)aCg>aTg	p.T195M	SERPINH1_ENST00000358171.3_Missense_Mutation_p.T195M|SERPINH1_ENST00000530284.1_Missense_Mutation_p.T195M|SERPINH1_ENST00000533603.1_Missense_Mutation_p.T195M			P50454	SERPH_HUMAN	serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)	195					regulation of proteolysis|response to unfolded protein	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	collagen binding|serine-type endopeptidase inhibitor activity			endometrium(4)|large_intestine(3)|liver(1)|lung(4)|ovary(2)|stomach(1)	15	Ovarian(111;0.11)					GTGGAGCGCACGGACGGCGCC	0.662													T	75277978	C	T	75277978	3	4	597	1	0	0	0	0	1	0	0	0	14210	536	19	1	586	1	SERPINH1	11	75277978	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	3544530	75277978	59728538	27	50041											
NFRKB	4798	broad.mit.edu	37	chr11	129758574	129758574	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctaagatgagttcattctgCtgctcagcactgtcttcagg	8	13	10	10	0	5	2	3	1	2	1	5	2	5	2	0	1	3	5	0	1	1	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr11:129758574C>A	ENST00000446488.3	-	3	355	c.252G>T	c.(250-252)caG>caT	p.Q84H	NFRKB_ENST00000526940.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000304521.5_Missense_Mutation_p.Q84H|NFRKB_ENST00000524746.1_Missense_Mutation_p.Q84H|NFRKB_ENST00000524794.1_Missense_Mutation_p.Q97H	NM_001143835.1	NP_001137307.1	Q6P4R8	NFRKB_HUMAN	nuclear factor related to kappaB binding protein	84					DNA recombination|DNA repair|inflammatory response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	Ino80 complex	DNA binding|protease binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(13)|ovary(4)|skin(3)|urinary_tract(1)	32	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.0167)|Lung(977;0.171)|LUSC - Lung squamous cell carcinoma(976;0.184)		GTTCATTCTGCTGCTCAGCAC	0.488													A	129758574	C	A	129758574	3	1	597	1	0	0	0	0	1	0	0	0	10460	796	28	4	3779	4	NFRKB	11	129758574	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54480596	129758574	5247942	28	50042											
ACSM4	341392	broad.mit.edu	37	chr12	7457055	7457055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactttgaagccataaatcGctgtaacaggccattgccta	12	11	8	10	1	0	2	0	2	0	0	1	2	0	2	3	1	3	2	3	1	5	5			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr12:7457055G>A	ENST00000399422.4	+	1	176	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001080454.1	NP_001073923.1	P0C7M7	ACSM4_HUMAN	acyl-CoA synthetase medium-chain family member 4	43					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			endometrium(6)|kidney(1)|lung(14)	21						GCCATAAATCGCTGTAACAGG	0.483													A	7457055	G	A	7457055	3	1	597	1	0	0	0	0	1	0	0	0	186	1087	38	1	130	1	ACSM4	12	7457055	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		7457055	126394840	29	50043											
IPO4	79711	broad.mit.edu	37	chr14	24651580	24651580	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggatggcctctccagcGtgctccagcaacatggcgtc	7	7	13	14	2	1	0	0	0	1	0	4	1	2	1	3	3	4	3	3	3	1	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:24651580G>A	ENST00000354464.6	-	25	2678	c.2502C>T	c.(2500-2502)caC>caT	p.H834H	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	834					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		CCTCTCCAGCGTGCTCCAGCA	0.622													A	24651580	G	A	24651580	2	1	597	1	0	0	0	0	0	0	0	1	7853	1136	40	1		1	IPO4	14	24651580	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		24651580	82697960	30	50044											
GZMB	3002	broad.mit.edu	37	chr14	25102230	25102230	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagataagccatgtaggggcGggagtggggcttggcctcat	9	8	17	7	1	1	1	1	0	0	1	1	2	1	2	2	6	1	2	2	6	3	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:25102230G>A	ENST00000216341.4	-	2	200	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	GZMB_ENST00000382542.1_Missense_Mutation_p.R66C|RP11-104E19.1_ENST00000555300.1_RNA|GZMB_ENST00000526004.1_Missense_Mutation_p.R32C|GZMB_ENST00000415355.3_Missense_Mutation_p.R20C|RP11-104E19.1_ENST00000557736.1_RNA|GZMB_ENST00000382540.1_Missense_Mutation_p.R32C			P10144	GRAB_HUMAN	granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1)	32	Peptidase S1.			RP -> PR (in Ref. 12; AA sequence).	activation of pro-apoptotic gene products|cleavage of lamin|cytolysis|induction of apoptosis by intracellular signals	cytosol|immunological synapse|nucleus	protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(4)|stomach(4)|urinary_tract(2)	13				GBM - Glioblastoma multiforme(265;0.028)		ATGTAGGGGCGGGAGTGGGGC	0.562													A	25102230	G	A	25102230	3	1	597	1	0	0	0	0	1	0	0	0	6971	1116	39	1	665	1	GZMB	14	25102230	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	450650	25102230	82247310	31	50045											
FKBP3	2287	broad.mit.edu	37	chr14	45590142	45590144	+	In_Frame_Del	DEL	TTC	TTC	-																															aacttaaaggcttggcatttTtcttcttctttgcacctgta																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:45590142_45590144delTTC	ENST00000216330.3	-	6	878_880	c.468_470delGAA	c.(466-471)aagaaa>aaa	p.156_157KK>K	FKBP3_ENST00000396062.3_In_Frame_Del_p.156_157KK>K			Q00688	FKBP3_HUMAN	FK506 binding protein 3, 25kDa	156	PPIase FKBP-type.				protein folding	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|receptor activity			NS(1)|biliary_tract(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGGCATTTTTCTTCTTCTTTG	0.32													-	45590144	TTC	-	45590142	7	5	597	1	0	1	0	1	0	0	0	0	5958	1841	64	0	216	0	FKBP3	14	45590142	In_Frame_Del	DEL	TTC	TCGA-HT-A5R9-01A-11D-A289-08	20487912	45590142	61759398	32	50046											
BCL11B	64919	broad.mit.edu	37	chr14	99641424	99641424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgtcagccagcgccttggcCgcgccgccccccgcgcccgg	2	4	13	22	8	1	0	1	0	0	0	2	0	1	0	8	2	2	0	8	2	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr14:99641424C>T	ENST00000345514.2	-	3	1802	c.1536G>A	c.(1534-1536)gcG>gcA	p.A512A	BCL11B_ENST00000357195.3_Silent_p.A583A|BCL11B_ENST00000443726.2_Silent_p.A389A	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	583						nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GCGCCTTggccgcgccgcccc	0.731			T	TLX3	T-ALL								T	99641424	C	T	99641424	2	4	597	1	0	0	0	0	0	0	0	1	1369	639	23	1		1	BCL11B	14	99641424	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	54051282	99641424	7708116	33	50047											
PML	5371	broad.mit.edu	37	chr15	74290533	74290533	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacacacccgccctggataaCgtctttttcgagagtctgca	9	10	9	13	3	2	1	0	0	2	1	3	4	2	2	2	1	2	1	2	1	1	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:74290533C>T	ENST00000565898.1	+	2	402	c.318C>T	c.(316-318)aaC>aaT	p.N106N	PML_ENST00000567543.1_Silent_p.N106N|PML_ENST00000569965.1_Silent_p.N106N|PML_ENST00000395132.2_Silent_p.N106N|PML_ENST00000563500.1_Silent_p.N106N|PML_ENST00000359928.4_Silent_p.N106N|PML_ENST00000564428.1_Silent_p.N106N|PML_ENST00000435786.2_Silent_p.N106N|PML_ENST00000395135.3_Silent_p.N106N|PML_ENST00000268059.6_Silent_p.N106N|PML_ENST00000268058.3_Silent_p.N106N|PML_ENST00000569477.1_Silent_p.N106N|PML_ENST00000354026.6_Silent_p.N106N|PML_ENST00000436891.3_Silent_p.N106N			P29590	PML_HUMAN	promyelocytic leukemia	106					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						CCCTGGATAACGTCTTTTTCG	0.642			T	"RARA, PAX5"	"APL, ALL"								T	74290533	C	T	74290533	2	4	597	1	0	0	0	0	0	0	0	1	12212	535	19	1		1	PML	15	74290533	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08		74290533	28240859	34	50048											
IDH2	3418	broad.mit.edu	37	chr15	90631839	90631839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtcgccatgggcgtgccTgccaatggtgatgggcttgg	4	10	17	10	2	0	1	0	1	0	0	1	1	0	1	3	5	2	1	3	5	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90631839T>C	ENST00000330062.3	-	4	627	c.514A>G	c.(514-516)Agg>Ggg	p.R172G	IDH2_ENST00000540499.2_Missense_Mutation_p.R120G|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42G	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172W(12)|p.R172G(2)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			TGGGCGTGCCTGCCAATGGTG	0.627			M		GBM								C	90631839	T	C	90631839	3	2	597	1	0	0	0	0	1	0	0	0	7553	1579	55	3	876	3	IDH2	15	90631839	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	16341306	90631839	11899553	35	50049											
CIB1	10519	broad.mit.edu	37	chr15	90775542	90775542	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggggaagcagctcaCaaaaccgcctgtgggctctg	8	7	13	13	1	2	0	1	0	1	0	3	1	3	1	3	3	3	4	3	3	3	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr15:90775542C>A	ENST00000328649.6	-	3	265	c.104G>T	c.(103-105)tGt>tTt	p.C35F		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	35					apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			AAGCAGCTCACAAAACCGCCT	0.587													A	90775542	C	A	90775542	3	1	597	1	0	0	0	0	1	0	0	0	3450	478	17	4	491	4	CIB1	15	90775542	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	143703	90775542	11755850	36	50050											
MYO15A	51168	broad.mit.edu	37	chr17	18053797	18053797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagggggaggccagcccGgtggaggcagcagtagtggt	9	5	20	7	1	0	1	0	1	0	0	0	3	0	3	2	7	2	3	2	7	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18053797G>A	ENST00000205890.5	+	36	7605	c.7267G>A	c.(7267-7269)Ggt>Agt	p.G2423S		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	2423	Tail.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					AGGCCAGCCCGGTGGAGGCAG	0.617													A	18053797	G	A	18053797	3	1	597	1	0	0	0	0	1	0	0	0	10139	1116	39	1	7401	1	MYO15A	17	18053797	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		18053797	63141413	37	50051											
LGALS9C	654346	broad.mit.edu	37	chr17	18387258	18387258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcactgtcaatggggccGttctcagctgcagtggaacc	9	9	12	11	1	3	1	3	0	1	1	4	2	3	2	2	3	3	3	2	3	2	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:18387258G>A	ENST00000328114.6	+	2	190	c.109G>A	c.(109-111)Gtt>Att	p.V37I	LGALS9C_ENST00000584941.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000578983.1_3'UTR|LGALS9C_ENST00000581545.1_Missense_Mutation_p.V37I|LGALS9C_ENST00000412421.2_Intron|LGALS9C_ENST00000583322.1_Missense_Mutation_p.V37I	NM_001040078.2	NP_001035167.2	Q6DKI2	LEG9C_HUMAN	lectin, galactoside-binding, soluble, 9C	37	Galectin 1.						sugar binding			NS(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	7						CAATGGGGCCGTTCTCAGCTG	0.562													A	18387258	G	A	18387258	3	1	597	1	0	0	0	0	1	0	0	0	8810	1145	40	1	115	1	LGALS9C	17	18387258	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	333461	18387258	62807952	38	50052											
KSR1	8844	broad.mit.edu	37	chr17	25783753	25783753	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggcggccgcggagggAggcgcaggggccgcggccag	5	1	23	12	7	0	0	0	0	0	0	0	3	0	2	3	8	1	1	3	8	0	0			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:25783753A>T	ENST00000319524.6	+	1	84	c.84A>T	c.(82-84)ggA>ggT	p.G28G	KSR1_ENST00000509603.2_Silent_p.G28G			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	26					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGCGGAGGGAGGCGCAGGGG	0.741													T	25783753	A	T	25783753	2	4	597	1	0	0	0	0	0	0	0	1	8640	319	11	5		5	KSR1	17	25783753	Silent	SNP	A	TCGA-HT-A5R9-01A-11D-A289-08	7396495	25783753	55411457	39	50053											
KCNH4	23415	broad.mit.edu	37	chr17	40322247	40322247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgccgcgatgtaggcgctgCgccgtgatgggccgcccacc	4	6	16	15	6	0	1	0	1	0	0	0	2	0	1	5	2	2	2	5	2	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:40322247C>T	ENST00000264661.3	-	8	1600	c.1268G>A	c.(1267-1269)cGc>cAc	p.R423H	KCNH4_ENST00000607371.1_Missense_Mutation_p.R423H	NM_012285.2	NP_036417.1	Q9UQ05	KCNH4_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 4	423					regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	two-component sensor activity|voltage-gated potassium channel activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|urinary_tract(1)	32		all_cancers(22;1.24e-06)|all_epithelial(22;4.33e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.126)		GTAGGCGCTGCGCCGTGATGG	0.622													T	40322247	C	T	40322247	3	4	597	1	0	0	0	0	1	0	0	0	8092	768	27	1	1821	1	KCNH4	17	40322247	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	14538494	40322247	40872963	40	50054											
SP6	80320	broad.mit.edu	37	chr17	45925200	45925200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctggaatccagcccttgaGactccggggcggctacttcc	6	8	13	14	2	0	1	0	1	0	1	3	3	3	2	4	5	2	2	4	5	2	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:45925200G>A	ENST00000536300.1	-	2	927	c.596C>T	c.(595-597)tCt>tTt	p.S199F	SP6_ENST00000342234.2_Missense_Mutation_p.S199F	NM_001258248.1	NP_001245177.1	Q3SY56	SP6_HUMAN	Sp6 transcription factor	199					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(5)|prostate(1)|skin(1)	8						CAGCCCTTGAGACTCCGGGGC	0.716													A	45925200	G	A	45925200	3	1	597	1	0	0	0	0	1	0	0	0	15062	942	33	2	538	2	SP6	17	45925200	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	5602953	45925200	35270010	41	50055											
TRIM37	4591	broad.mit.edu	37	chr17	57153020	57153020	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatcacctggtgctccacCtcctgaagtaaggattccaa	10	11	7	13	0	2	1	2	1	0	0	5	2	5	2	5	2	1	2	5	2	3	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr17:57153020C>A	ENST00000376149.3	-	8	1115	c.306G>T	c.(304-306)gaG>gaT	p.E102D	TRIM37_ENST00000262294.7_Missense_Mutation_p.E224D|TRIM37_ENST00000393066.3_Missense_Mutation_p.E224D|TRIM37_ENST00000393065.2_Missense_Mutation_p.E190D			O94972	TRI37_HUMAN	tripartite motif containing 37	224						perinuclear region of cytoplasm|peroxisome	ligase activity|protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(13)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37	Medulloblastoma(34;0.0922)|all_neural(34;0.101)					GGTGCTCCACCTCCTGAAGTA	0.323									Mulibrey Nanism				A	57153020	C	A	57153020	3	1	597	1	0	0	0	0	1	0	0	0	16612	680	24	4	2298	4	TRIM37	17	57153020	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	11227820	57153020	24042190	42	50056											
MYO5B	4645	broad.mit.edu	37	chr18	47566657	47566657	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagaagggcagctggttgcGttgtacatcaattgggtatt	10	13	13	5	1	1	1	1	0	0	1	1	1	1	1	0	3	3	6	0	3	5	7			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:47566657G>A	ENST00000285039.7	-	3	465	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	56	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCTGGTTGCGTTGTACATCA	0.423													A	47566657	G	A	47566657	3	1	597	1	0	0	0	0	1	0	0	0	10155	1145	40	1	5532	1	MYO5B	18	47566657	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		47566657	30510591	43	50057											
SOCS6	9306	broad.mit.edu	37	chr18	67993430	67993430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtgtcgttttgttatacGtcagtataccagaatagact	10	15	8	8	2	1	2	1	0	0	2	2	2	1	2	2	0	2	3	2	0	6	7			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr18:67993430G>A	ENST00000397942.3	+	2	1842	c.1526G>A	c.(1525-1527)cGt>cAt	p.R509H	SOCS6_ENST00000582322.1_Missense_Mutation_p.R509H	NM_004232.3	NP_004223.2	O14544	SOCS6_HUMAN	suppressor of cytokine signaling 6	509	SOCS box.				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)				TTTGTTATACGTCAGTATACC	0.468													A	67993430	G	A	67993430	3	1	597	1	0	0	0	0	1	0	0	0	15012	1145	40	1	1528	1	SOCS6	18	67993430	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	20426773	67993430	10083818	44	50058											
TRMT1	55621	broad.mit.edu	37	chr19	13220750	13220750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccgctggggactcctgacGctttgccgagacgctgaagg	6	7	16	12	4	0	3	0	2	0	1	1	5	1	4	3	4	1	3	3	4	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:13220750G>A	ENST00000592062.1	-	10	1655	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	TRMT1_ENST00000221504.8_Intron|TRMT1_ENST00000437766.1_Missense_Mutation_p.A362V|TRMT1_ENST00000357720.4_Missense_Mutation_p.A362V			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	362							RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		GACTCCTGACGCTTTGCCGAG	0.652													A	13220750	G	A	13220750	3	1	597	1	0	0	0	0	1	0	0	0	16662	1087	38	1	930	1	TRMT1	19	13220750	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		13220750	45908233	45	50059											
NOTCH3	4854	broad.mit.edu	37	chr19	15271838	15271838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgctcctgcggggagacggGggtccctgggttgagcagct	4	7	18	12	3	0	2	0	1	0	1	2	3	2	2	3	5	3	4	3	5	0	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:15271838G>A	ENST00000263388.2	-	33	6676	c.6601C>T	c.(6601-6603)Ccc>Tcc	p.P2201S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	2201					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GGGGAGACGGGGGTCCCTGGG	0.741													A	15271838	G	A	15271838	3	1	597	1	0	0	0	0	1	0	0	0	10626	1232	43	2	368	2	NOTCH3	19	15271838	Missense_Mutation	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08	2051088	15271838	43857145	46	50060											
NWD1	284434	broad.mit.edu	37	chr19	16860910	16860910	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgggtgctcctggaccCggaggcctactgggaggtga	6	6	18	11	2	0	1	0	1	0	0	1	4	1	4	3	6	3	2	3	6	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:16860910C>T	ENST00000524140.2	+	6	1875	c.1457C>T	c.(1456-1458)cCg>cTg	p.P486L	NWD1_ENST00000552788.1_Missense_Mutation_p.P486L|NWD1_ENST00000549814.1_Missense_Mutation_p.P486L|NWD1_ENST00000523826.1_Missense_Mutation_p.P280L|NWD1_ENST00000339803.6_Missense_Mutation_p.P351L|NWD1_ENST00000379808.3_Missense_Mutation_p.P486L	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	486	NACHT.						ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CTCCTGGACCCGGAGGCCTAC	0.647													T	16860910	C	T	16860910	3	4	597	1	0	0	0	0	1	0	0	0	10857	652	23	1	1058	1	NWD1	19	16860910	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	1589072	16860910	42268073	47	50061											
PDE4C	5143	broad.mit.edu	37	chr19	18337211	18337211	+	Frame_Shift_Del	DEL	G	G	-																															ccggggaccggggcgggcgcGggggggccctgcatcgccag																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18337211delG	ENST00000262805.12	-	1	74	c.15delC	c.(13-15)cccfs	p.P5fs	PDE4C_ENST00000355502.3_Intron|PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000594617.3_Intron	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	gggcgggcgcgggggggcccT	0.761													-	18337211	G	-	18337211	7	5	597	1	0	1	0	1	0	0	0	0	11717	1103	39	0	2087	0	PDE4C	19	18337211	Frame_Shift_Del	DEL	G	TCGA-HT-A5R9-01A-11D-A289-08	1476301	18337211	40791772	48	50062											
CRTC1	23373	broad.mit.edu	37	chr19	18871031	18871031	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgggcatcggtggcgcCggccagggtaaggcagggac	7	4	18	12	3	0	0	0	0	0	0	1	1	0	1	3	7	0	3	3	7	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18871031C>T	ENST00000338797.6	+	9	952	c.927C>T	c.(925-927)gcC>gcT	p.A309A	CRTC1_ENST00000601916.1_Silent_p.A218A|CRTC1_ENST00000594658.1_Silent_p.A252A|CRTC1_ENST00000321949.8_Silent_p.A293A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	293	Ser-rich.				interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCGGTGGCGCCGGCCAGGGTA	0.667													T	18871031	C	T	18871031	2	4	597	1	0	0	0	0	0	0	0	1	3930	639	23	1		1	CRTC1	19	18871031	Silent	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	533820	18871031	40257952	49	50063											
UPF1	5976	broad.mit.edu	37	chr19	18968249	18968249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgggcatccggcccatcCgcctgcaggtccagtaccgg	5	7	13	16	3	0	0	0	0	0	0	3	0	3	0	6	4	3	4	6	4	1	1			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:18968249C>T	ENST00000262803.5	+	15	2361	c.2089C>T	c.(2089-2091)Cgc>Tgc	p.R697C	UPF1_ENST00000599848.1_Missense_Mutation_p.R708C	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	708					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCGGCCCATCCGCCTGCAGGT	0.642													T	18968249	C	T	18968249	3	4	597	1	0	0	0	0	1	0	0	0	17105	652	23	1	2147	1	UPF1	19	18968249	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	97218	18968249	40160734	50	50064											
CIC	23152	broad.mit.edu	37	chr19	42799067	42799069	+	In_Frame_Del	DEL	GAT	GAT	-																															atccgtgaggtgcgccagaaGatcatgcaggctgccactcc																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:42799067_42799069delGAT	ENST00000572681.2	+	21	7337_7339	c.7269_7271delGAT	c.(7267-7272)aagatc>aac	p.2423_2424KI>N	CIC_ENST00000575354.2_In_Frame_Del_p.1517_1518KI>N|CIC_ENST00000160740.3_In_Frame_Del_p.1515_1516KI>N			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1517					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCGCCAGAAGATCATGCAGGCT	0.65			"Mis, F, S"		oligodendroglioma								-	42799069	GAT	-	42799067	7	5	597	1	0	1	0	1	0	0	0	0	3454	933	33	0	4629	0	CIC	19	42799067	In_Frame_Del	DEL	GAT	TCGA-HT-A5R9-01A-11D-A289-08	23830818	42799067	16329916	51	50065											
NLRP7	199713	broad.mit.edu	37	chr19	55451739	55451739	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttggtttctcagagtgaCgtcgtcatggaaattgtcaa	9	13	11	8	3	3	2	3	1	1	1	5	3	3	3	1	2	0	2	1	2	2	3			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr19:55451739C>T	ENST00000446217.1	-	6	934	c.532G>A	c.(532-534)Gtc>Atc	p.V178I	NLRP7_ENST00000340844.2_Missense_Mutation_p.V150I|NLRP7_ENST00000328092.5_Missense_Mutation_p.V150I|NLRP7_ENST00000448121.2_Missense_Mutation_p.V150I|NLRP7_ENST00000590030.1_Missense_Mutation_p.V150I|NLRP7_ENST00000588756.1_Missense_Mutation_p.V150I|NLRP7_ENST00000592784.1_Missense_Mutation_p.V150I			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	150	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		CTCAGAGTGACGTCGTCATGG	0.498													T	55451739	C	T	55451739	3	4	597	1	0	0	0	0	1	0	0	0	10558	536	19	1	2697	1	NLRP7	19	55451739	Missense_Mutation	SNP	C	TCGA-HT-A5R9-01A-11D-A289-08	12652672	55451739	3677244	52	50066											
TRPM2	7226	broad.mit.edu	37	chr21	45774548	45774548	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaagaaagcctcagttcGtggattcctgaaaacatcaa	15	8	8	10	1	2	2	2	1	0	1	4	3	3	3	2	1	3	2	2	1	5	2			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chr21:45774548G>A	ENST00000397928.1	+	2	628	c.183G>A	c.(181-183)tcG>tcA	p.S61S	TRPM2_ENST00000397932.2_Silent_p.S61S|TRPM2_ENST00000300482.5_Silent_p.S61S|TRPM2_ENST00000300481.9_Silent_p.S61S	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	61						integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						GCCTCAGTTCGTGGATTCCTG	0.458													A	45774548	G	A	45774548	2	1	597	1	0	0	0	0	0	0	0	1	16687	1132	40	1		1	TRPM2	21	45774548	Silent	SNP	G	TCGA-HT-A5R9-01A-11D-A289-08		45774548	2355347	53	50067											
MID1	4281	broad.mit.edu	37	chrX	10417629	10417629	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtggggggcaggctcaaTggggatttccttgctattgt	6	12	17	6	0	1	0	1	0	0	0	2	2	2	1	1	7	1	3	1	7	2	4			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:10417629T>C	ENST00000317552.4	-	10	2183	c.1783A>G	c.(1783-1785)Att>Gtt	p.I595V	MID1_ENST00000380780.1_Missense_Mutation_p.I595V|MID1_ENST00000380779.1_Missense_Mutation_p.I595V|MID1_ENST00000380782.2_3'UTR|MID1_ENST00000453318.2_Missense_Mutation_p.I595V|MID1_ENST00000380785.1_Missense_Mutation_p.I595V|MID1_ENST00000380787.1_Missense_Mutation_p.I595V|MID1_ENST00000479925.1_5'UTR	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	595	B30.2/SPRY.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GCAGGCTCAATGGGGATTTCC	0.547													C	10417629	T	C	10417629	3	2	597	1	0	0	0	0	1	0	0	0	9651	1464	51	3	224	3	MID1	23	10417629	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08		10417629	144852931	54	50068											
RBBP7	5931	broad.mit.edu	37	chrX	16887194	16887197	+	Splice_Site	DEL	CTTA	CTTA	-																															aataaaagttgccagaaaccCttacttagtcacttcaggaa																										TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:16887194_16887197delCTTA	ENST00000380087.2	-	2	522		c.e2+1		RBBP7_ENST00000380084.4_Splice_Site|RBBP7_ENST00000404022.1_Splice_Site			Q16576	RBBP7_HUMAN	retinoblastoma binding protein 7						cell proliferation|cellular heat acclimation|CenH3-containing nucleosome assembly at centromere|DNA replication|multicellular organismal development|negative regulation of cell growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	ESC/E(Z) complex|NuRD complex	protein binding			biliary_tract(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	25	Hepatocellular(33;0.0997)					GCCAGAAACCCTTACTTAGTCACT	0.392													-	16887197	CTTA	-	16887194	8	5	597	1	0	1	0	1	0	0	1	0	13192	696	24	0		0	RBBP7	23	16887194	Splice_Site	DEL	CTTA	TCGA-HT-A5R9-01A-11D-A289-08	6469565	16887194	138383366	55	50069											
PASD1	139135	broad.mit.edu	37	chrX	150793999	150793999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccttttgtgggagagcTcaggtgagaggtagtattga	10	11	16	4	0	1	3	1	2	0	2	1	6	1	4	1	4	2	3	1	4	3	5			TCGA-HT-A5R9-01A-11D-A289-08	TCGA-HT-A5R9-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	10708a85-0155-45b3-9652-24c348b68882	a6d0ae7b-eb25-48c6-a048-ecf0d30b9059	g.chrX:150793999T>C	ENST00000370357.4	+	8	871	c.626T>C	c.(625-627)cTc>cCc	p.L209P		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	209						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					GTGGGAGAGCTCAGGTGAGAG	0.333													C	150793999	T	C	150793999	3	2	597	1	0	0	0	0	1	0	0	0	11547	1551	54	3	652	3	PASD1	23	150793999	Missense_Mutation	SNP	T	TCGA-HT-A5R9-01A-11D-A289-08	133906805	150793999	4476561	56	50070											
PLEKHN1	84069	broad.mit.edu	37	chr1	906524	906524	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccggctgcggacggcgtcagGgcacgaacccggcggcagtg	6	3	18	14	7	1	0	1	0	0	0	1	2	1	1	2	6	2	3	2	6	1	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:906524G>A	ENST00000379409.2	+	6	830	c.800G>A	c.(799-801)gGg>gAg	p.G267E	PLEKHN1_ENST00000379407.3_Missense_Mutation_p.G227E|PLEKHN1_ENST00000379410.3_Missense_Mutation_p.G215E			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	267										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACGGCGTCAGGGCACGAACCC	0.692													A	906524	G	A	906524	3	1	598	1	0	0	0	0	1	0	0	0	12160	1232	43	2	706	2	PLEKHN1	1	906524	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		906524	248344097	1	50071											
CDK11B	984	broad.mit.edu	37	chr1	1571791	1571791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaggtcatcttcttgactGctgggagctcgctgtagccg	6	12	13	10	2	3	2	1	2	2	0	4	3	3	3	1	2	3	4	1	2	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:1571791G>A	ENST00000407249.3	-	19	1978	c.1979C>T	c.(1978-1980)gCa>gTa	p.A660V	CDK11B_ENST00000317673.7_Missense_Mutation_p.A658V|CDK11B_ENST00000341832.6_Missense_Mutation_p.A613V|CDK11B_ENST00000340677.5_Missense_Mutation_p.A647V			P21127	CD11B_HUMAN	cyclin-dependent kinase 11B	670	Protein kinase.				apoptosis|cell proliferation|mitosis|regulation of cell growth|regulation of mRNA processing|regulation of transcription, DNA-dependent	cytoplasm|nucleus	ATP binding|cyclin-dependent protein kinase activity|protein binding			endometrium(2)|large_intestine(3)|lung(4)|skin(1)|stomach(2)	12						CTTCTTGACTGCTGGGAGCTC	0.572													A	1571791	G	A	1571791	3	1	598	1	0	0	0	0	1	0	0	0	3157	1319	46	2	390	2	CDK11B	1	1571791	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	665267	1571791	247678830	2	50072											
HSPB7	27129	broad.mit.edu	37	chr1	16343699	16343699	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcctgccccaccggggCgggctgtgggatgggctgct	2	9	18	12	2	0	0	0	0	0	0	0	1	0	1	4	5	3	4	4	5	0	1	rs143274675		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:16343699C>T	ENST00000311890.9	-	2	1029	c.203G>A	c.(202-204)cGc>cAc	p.R68H	HSPB7_ENST00000487046.1_Missense_Mutation_p.R73H|HSPB7_ENST00000375718.4_Missense_Mutation_p.R143H|HSPB7_ENST00000406363.2_Missense_Mutation_p.R72H|HSPB7_ENST00000411503.1_Missense_Mutation_p.R68H	NM_014424.4	NP_055239.1	Q9UBY9	HSPB7_HUMAN	heat shock 27kDa protein family, member 7 (cardiovascular)	68	Required for localization to SC35 splicing speckles.				regulation of heart contraction|response to heat|response to unfolded protein	Cajal body	protein C-terminus binding			breast(1)|large_intestine(1)|liver(1)|lung(6)|skin(1)	10		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.21e-08)|COAD - Colon adenocarcinoma(227;5.5e-06)|BRCA - Breast invasive adenocarcinoma(304;9.08e-05)|Kidney(64;0.000162)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00656)|READ - Rectum adenocarcinoma(331;0.0649)		CCCACCGGGGCGGGCTGTGGG	0.627													T	16343699	C	T	16343699	3	4	598	1	0	0	0	0	1	0	0	0	7480	768	27	1	317	1	HSPB7	1	16343699	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14771908	16343699	232906922	3	50073											
HSPG2	3339	broad.mit.edu	37	chr1	22176934	22176934	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccaacactcggcacaCgtactcgcccgagtcggcgg	7	5	12	17	6	0	0	0	0	0	0	3	1	0	0	2	3	3	3	2	3	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:22176934C>T	ENST00000374695.3	-	56	7295	c.7216G>A	c.(7216-7218)Gtg>Atg	p.V2406M	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2406	Ig-like C2-type 9.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	ACTCGGCACACGTACTCGCCC	0.657													T	22176934	C	T	22176934	3	4	598	1	0	0	0	0	1	0	0	0	7488	536	19	1	6127	1	HSPG2	1	22176934	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	5833235	22176934	227073687	4	50074											
PTPRU	10076	broad.mit.edu	37	chr1	29611340	29611340	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcaggggggcttgctgtcctCatccttctcctgggtgccat	3	12	13	13	0	2	0	1	0	1	0	5	0	4	0	4	4	2	3	4	4	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:29611340C>T	ENST00000373779.3	+	14	2406	c.2277C>T	c.(2275-2277)ctC>ctT	p.L759L	PTPRU_ENST00000428026.2_Silent_p.L759L|PTPRU_ENST00000356870.3_Silent_p.L759L|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000460170.2_Silent_p.L759L|PTPRU_ENST00000345512.3_Silent_p.L759L|PTPRU_ENST00000323874.8_Silent_p.L759L	NM_001195001.1|NM_133178.3	NP_001181930.1|NP_573439.2	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	759					canonical Wnt receptor signaling pathway|cell differentiation|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|protein localization at cell surface|transmembrane receptor protein tyrosine phosphatase signaling pathway	cell-cell junction|integral to plasma membrane	beta-catenin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		TTGCTGTCCTCATCCTTCTCC	0.617													T	29611340	C	T	29611340	2	4	598	1	0	0	0	0	0	0	0	1	12901	813	29	2		2	PTPRU	1	29611340	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	7434406	29611340	219639281	5	50075											
MKNK1	8569	broad.mit.edu	37	chr1	47024299	47024299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacggcctgcctgggccaggGcccgtctccgggccaggcgt	3	5	16	17	4	1	0	0	0	1	0	2	0	1	0	6	5	1	0	6	5	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:47024299G>A	ENST00000371946.4	-	14	1509	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	MKNK1_ENST00000341183.5_3'UTR|MKNK1_ENST00000371944.4_Missense_Mutation_p.A313V|MKNK1_ENST00000371945.4_Missense_Mutation_p.A408V|MKNK1-AS1_ENST00000602433.1_RNA	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	449					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					CTGGGCCAGGGCCCGTCTCCG	0.622													A	47024299	G	A	47024299	3	1	598	1	0	0	0	0	1	0	0	0	9679	1203	42	2	55	2	MKNK1	1	47024299	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	17412959	47024299	202226322	6	50076											
C8B	732	broad.mit.edu	37	chr1	57411659	57411659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctctgaaggaactcgtaatGgagcatgaggcttctgggtt	9	12	13	7	1	2	2	0	2	2	0	4	4	2	4	0	4	2	4	0	4	3	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:57411659G>A	ENST00000543257.1	-	8	1350	c.784C>T	c.(784-786)Cat>Tat	p.H262Y	C8B_ENST00000535057.1_Missense_Mutation_p.H252Y|C8B_ENST00000371237.4_Missense_Mutation_p.H314Y	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	314	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						AACTCGTAATGGAGCATGAGG	0.468													A	57411659	G	A	57411659	3	1	598	1	0	0	0	0	1	0	0	0	2441	1348	47	2	859	2	C8B	1	57411659	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	10387360	57411659	191838962	7	50077											
CELSR2	1952	broad.mit.edu	37	chr1	109805496	109805496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcccgagagcttcccagtccGaatgcggcagttcgtgggct	6	8	14	13	4	0	1	0	0	0	1	3	3	2	1	3	2	2	4	3	2	1	2	rs148197539		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:109805496G>A	ENST00000271332.3	+	7	4674	c.4613G>A	c.(4612-4614)cGa>cAa	p.R1538Q		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1538	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTCCCAGTCCGAATGCGGCAG	0.627													A	109805496	G	A	109805496	3	1	598	1	0	0	0	0	1	0	0	0	3252	1058	37	1	4639	1	CELSR2	1	109805496	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	52393837	109805496	139445125	8	50078											
SNAPIN	23557	broad.mit.edu	37	chr1	153632019	153632021	+	In_Frame_Del	DEL	AAC	AAC	-																															ggcgacgcgttgtcttggttAacaacattctacagaatgct																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:153632019_153632021delAAC	ENST00000368685.5	+	3	376_378	c.286_288delAAC	c.(286-288)aacdel	p.N97del	SNAPIN_ENST00000478558.1_3'UTR	NM_012437.5	NP_036569.1	O95295	SNAPN_HUMAN	SNAP-associated protein	97					intracellular protein transport|synaptic vesicle exocytosis	BLOC-1 complex|cell junction|perinuclear region of cytoplasm|synaptic vesicle membrane|synaptosome	SNARE binding			lung(3)	3	all_lung(78;1.84e-32)|Lung NSC(65;6.67e-31)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGTCTTGGTTAACAACATTCTAC	0.433													-	153632021	AAC	-	153632019	7	5	598	1	0	1	0	1	0	0	0	0	14933	362	13	0	296	0	SNAPIN	1	153632019	In_Frame_Del	DEL	AAC	TCGA-HT-A5RA-01A-11D-A289-08	43826523	153632019	95618602	9	50079											
PFKFB2	5208	broad.mit.edu	37	chr1	207252343	207252343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcagacgcccctccgcagcGtccctcatgttgccttgcta	5	9	9	18	4	1	1	1	0	0	1	3	1	3	1	5	0	3	4	5	0	1	3	rs144692490		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:207252343G>A	ENST00000367079.2	+	15	1468	c.1395G>A	c.(1393-1395)gcG>gcA	p.A465A	PFKFB2_ENST00000411990.2_Silent_p.A367A|PFKFB2_ENST00000473310.1_3'UTR|PFKFB2_ENST00000541914.1_Silent_p.A258A	NM_001018053.1	NP_001018063.1	O60825	F262_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 2	0	Fructose-2,6-bisphosphatase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	20	Prostate(682;0.19)					CCTCCGCAGCGTCCCTCATGT	0.552													A	207252343	G	A	207252343	2	1	598	1	0	0	0	0	0	0	0	1	11838	1132	40	1		1	PFKFB2	1	207252343	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	53620324	207252343	41998278	10	50080											
SLC35F3	148641	broad.mit.edu	37	chr1	234367298	234367298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatcttctggggcgtggCggtcgtgctgtgcgtgtgct	3	12	18	8	4	2	1	0	0	2	1	3	2	2	1	0	4	3	2	0	4	1	1	rs141749628	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr1:234367298C>T	ENST00000366618.3	+	3	564	c.419C>T	c.(418-420)gCg>gTg	p.A140V	SLC35F3_ENST00000366617.3_Missense_Mutation_p.A71V	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	71					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			TGGGGCGTGGCGGTCGTGCTG	0.697													T	234367298	C	T	234367298	3	4	598	1	0	0	0	0	1	0	0	0	14684	768	27	1	429	1	SLC35F3	1	234367298	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	27114955	234367298	14883323	11	50081											
LTBP1	4052	broad.mit.edu	37	chr2	33525560	33525560	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctatgtgtaaacgggcAgtgcaaaaataccgagggct	14	8	12	7	2	1	0	0	0	1	0	1	2	1	0	1	2	3	4	1	2	7	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:33525560A>G	ENST00000404816.2	+	21	3631	c.3278A>G	c.(3277-3279)cAg>cGg	p.Q1093R	LTBP1_ENST00000418533.2_Missense_Mutation_p.Q767R|LTBP1_ENST00000404525.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000402934.1_Missense_Mutation_p.Q714R|LTBP1_ENST00000354476.3_Missense_Mutation_p.Q1094R|LTBP1_ENST00000390003.4_Missense_Mutation_p.Q768R|LTBP1_ENST00000498013.1_3'UTR|LTBP1_ENST00000407925.1_Missense_Mutation_p.Q767R|LTBP1_ENST00000272273.5_Missense_Mutation_p.Q33R			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	1093	EGF-like 9; calcium-binding (Potential).				negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTAAACGGGCAGTGCAAAAAT	0.473													G	33525560	A	G	33525560	3	3	598	1	0	0	0	0	1	0	0	0	9143	188	7	3	3415	3	LTBP1	2	33525560	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		33525560	209673813	12	50082											
MOGS	7841	broad.mit.edu	37	chr2	74689679	74689679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccttccaccccgatgtctgGcaataccagcccttgtccgt	6	10	7	18	2	1	0	0	0	1	0	3	1	3	0	7	1	2	1	7	1	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:74689679G>A	ENST00000233616.4	-	4	1399	c.1237C>T	c.(1237-1239)Cca>Tca	p.P413S	MOGS_ENST00000409065.1_3'UTR|MOGS_ENST00000452063.2_Missense_Mutation_p.P307S	NM_006302.2	NP_006293.2	Q13724	MOGS_HUMAN	mannosyl-oligosaccharide glucosidase	413					oligosaccharide metabolic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane|membrane fraction	mannosyl-oligosaccharide glucosidase activity			cervix(1)|endometrium(6)|large_intestine(3)|lung(10)|prostate(1)|urinary_tract(2)	23						CCGATGTCTGGCAATACCAGC	0.597													A	74689679	G	A	74689679	3	1	598	1	0	0	0	0	1	0	0	0	9773	1203	42	2	1280	2	MOGS	2	74689679	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	41164119	74689679	168509694	13	50083											
SLC16A14	151473	broad.mit.edu	37	chr2	230923895	230923895	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcttccagccattccacGttgaggacacccagggccat	10	9	8	14	1	1	1	0	1	1	0	3	2	3	2	5	2	1	1	5	2	1	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr2:230923895G>A	ENST00000295190.4	-	2	632	c.174C>T	c.(172-174)aaC>aaT	p.N58N		NM_152527.4	NP_689740.2	Q7RTX9	MOT14_HUMAN	solute carrier family 16, member 14	58						integral to membrane|plasma membrane	symporter activity			NS(1)|cervix(1)|endometrium(7)|large_intestine(7)|lung(3)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.149)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;7.31e-13)|all cancers(144;5.1e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00948)		GCCATTCCACGTTGAGGACAC	0.562													A	230923895	G	A	230923895	2	1	598	1	0	0	0	0	0	0	0	1	14501	1136	40	1		1	SLC16A14	2	230923895	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	156234216	230923895	12275478	14	50084											
MST1	4485	broad.mit.edu	37	chr3	49723596	49723596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggcgcctctgagccgtcgGggttccggcagaagttctcc	5	8	15	13	4	2	2	0	1	2	1	5	2	3	2	4	4	1	3	4	4	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:49723596G>A	ENST00000449682.2	-	9	1407	c.1046C>T	c.(1045-1047)cCc>cTc	p.P349L	MST1_ENST00000383728.3_3'UTR	NM_020998.3	NP_066278.3	P26927	HGFL_HUMAN	macrophage stimulating 1 (hepatocyte growth factor-like)	335	Kringle 3.				proteolysis	extracellular region	serine-type endopeptidase activity	p.P335L(5)		NS(4)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|skin(9)|stomach(1)|urinary_tract(2)	41				BRCA - Breast invasive adenocarcinoma(193;4.47e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TGAGCCGTCGGGGTTCCGGCA	0.667													A	49723596	G	A	49723596	3	1	598	1	0	0	0	0	1	0	0	0	9966	1232	43	2	1171	2	MST1	3	49723596	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		49723596	148298834	15	50085											
CD200R1L	344807	broad.mit.edu	37	chr3	112546321	112546321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccggacgaatctgaaggtccGaattctgatcaggtctagag	11	9	12	9	3	4	3	1	2	3	1	5	6	5	4	2	3	0	0	2	3	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:112546321G>A	ENST00000488794.1	-	5	849	c.260C>T	c.(259-261)tCg>tTg	p.S87L	CD200R1L_ENST00000448932.1_Missense_Mutation_p.S87L|CD200R1L_ENST00000398214.1_Missense_Mutation_p.S108L			Q6Q8B3	MO2R2_HUMAN	CD200 receptor 1-like	108	Ig-like V-type.					integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(2)	19						CTGAAGGTCCGAATTCTGATC	0.463													A	112546321	G	A	112546321	3	1	598	1	0	0	0	0	1	0	0	0	3012	1059	37	1	508	1	CD200R1L	3	112546321	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	62822725	112546321	85476109	16	50086											
MUC4	4585	broad.mit.edu	37	chr3	195488980	195488980	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggagcccctccgtgcggttCtggtactcgggcgggaggct	4	8	17	12	4	1	0	0	0	1	0	3	2	2	2	3	6	3	3	3	6	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr3:195488980C>T	ENST00000463781.3	-	14	14949	c.14490G>A	c.(14488-14490)caG>caA	p.Q4830Q	MUC4_ENST00000349607.4_Silent_p.Q543Q|MUC4_ENST00000475231.1_Silent_p.Q4778Q|MUC4_ENST00000346145.4_Silent_p.Q594Q	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	1587					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCGTGCGGTTCTGGTACTCGG	0.736													T	195488980	C	T	195488980	2	4	598	1	0	0	0	0	0	0	0	1	10054	912	32	2		2	MUC4	3	195488980	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	82942659	195488980	2533450	17	50087											
EXOC1	55763	broad.mit.edu	37	chr4	56734654	56734654	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaatgcggaagcctttgcaGaaaaattgtccagagagctg	13	8	12	8	2	0	2	0	0	0	2	1	5	1	3	2	1	4	2	2	1	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:56734654G>T	ENST00000381295.2	+	5	916	c.568G>T	c.(568-570)Gaa>Taa	p.E190*	EXOC1_ENST00000346134.7_Nonsense_Mutation_p.E190*|EXOC1_ENST00000349598.6_Nonsense_Mutation_p.E190*	NM_001024924.1	NP_001020095.1	Q9NV70	EXOC1_HUMAN	exocyst complex component 1	190					exocytosis|protein transport	exocyst	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	35	Glioma(25;0.08)|all_neural(26;0.101)					AGCCTTTGCAGAAAAATTGTC	0.393													T	56734654	G	T	56734654	4	4	598	1	0	0	0	0	0	1	0	0	5342	943	33	4	582	4	EXOC1	4	56734654	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56734654	134419622	18	50088											
DCHS2	54798	broad.mit.edu	37	chr4	155176790	155176790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaatactcaatcaggccGttcaaaccactgtccaagtc	14	9	6	12	1	3	1	3	0	0	1	5	1	4	1	3	1	2	1	3	1	6	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408													A	155176790	G	A	155176790	2	1	598	1	0	0	0	0	0	0	0	1	4322	1136	40	1		1	DCHS2	4	155176790	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	98442136	155176790	35977486	19	50089											
NPY5R	4889	broad.mit.edu	37	chr4	164271443	164271443	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggatttagagctcgaCgagtattataacaagacact	16	11	8	6	2	0	2	0	0	0	2	1	5	0	3	0	1	2	2	0	1	7	6			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr4:164271443C>T	ENST00000515560.1	+	4	1540	c.18C>T	c.(16-18)gaC>gaT	p.D6D	NPY5R_ENST00000338566.3_Silent_p.D6D|NPY5R_ENST00000506953.1_Silent_p.D6D			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	6					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TAGAGCTCGACGAGTATTATA	0.358													T	164271443	C	T	164271443	2	4	598	1	0	0	0	0	0	0	0	1	10686	535	19	1		1	NPY5R	4	164271443	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	9094653	164271443	26882833	20	50090											
FAM81B	153643	broad.mit.edu	37	chr5	94749822	94749822	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttcgaaaagaggaatcgctCgccaggaagttactggaaag	14	8	12	7	3	0	1	0	0	0	1	3	5	0	4	1	3	1	2	1	3	6	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr5:94749822C>T	ENST00000283357.5	+	4	511	c.465C>T	c.(463-465)ctC>ctT	p.L155L		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	155										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		AGGAATCGCTCGCCAGGAAGT	0.463													T	94749822	C	T	94749822	2	4	598	1	0	0	0	0	0	0	0	1	5679	871	31	1		1	FAM81B	5	94749822	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		94749822	86165438	21	50091											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000478221.1_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	598	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RA-01A-11D-A289-08		31939829	139175238	22	50092											
TULP4	56995	broad.mit.edu	37	chr6	158923248	158923248	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaccacagcagcacccccGccccctctgccgcccccaca	7	2	5	27	2	1	0	0	0	1	0	1	0	1	0	9	0	3	2	9	0	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr6:158923248G>C	ENST00000367097.3	+	13	3910	c.2553G>C	c.(2551-2553)ccG>ccC	p.P851P	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	851					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CAGCACCCCCGCCCCCTCTGC	0.657													C	158923248	G	C	158923248	2	2	598	1	0	0	0	0	0	0	0	1	16878	1074	38	4		4	TULP4	6	158923248	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	126983419	158923248	12191819	23	50093											
SEPT7	989	broad.mit.edu	37	chr7	35872445	35872445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggctatgtgggatttgccaAtctcccaaatcaagtataca	13	11	8	9	0	2	0	1	0	1	0	3	1	2	1	2	2	2	2	2	2	6	4	rs11538083		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:35872445A>G	ENST00000494488.2	+	2	62	c.62A>G	c.(61-63)aAt>aGt	p.N21S	SEPT7_ENST00000399034.2_Missense_Mutation_p.N36S|SEPT7_ENST00000350320.6_Missense_Mutation_p.N34S|SEPT7_ENST00000475109.1_3'UTR|SEPT7_ENST00000469679.2_Missense_Mutation_p.N34S|SEPT7_ENST00000435235.1_5'UTR|SEPT7_ENST00000399035.3_Missense_Mutation_p.N34S			Q16181	SEPT7_HUMAN	septin 7	35					cilium morphogenesis|cytokinesis|mitosis|protein heterooligomerization|regulation of embryonic cell shape	cilium axoneme|cleavage furrow|condensed chromosome kinetochore|midbody|nucleus|septin complex|spindle|stress fiber	GTP binding|protein binding|structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)	14						GGATTTGCCAATCTCCCAAAT	0.373													G	35872445	A	G	35872445	3	3	598	1	0	0	0	0	1	0	0	0	14162	101	4	3	108	3	SEPT7	7	35872445	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		35872445	123266218	24	50094											
ZAN	7455	broad.mit.edu	37	chr7	100377162	100377162	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggccgacctccgcagggcgCgggaaaagtgcgaggcagcg	8	2	18	13	7	0	0	0	0	0	0	1	3	1	1	3	4	2	2	3	4	2	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:100377162C>T	ENST00000542585.1	+	0	6557				ZAN_ENST00000421100.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CCGCAGGGCGCGGGAAAAGTG	0.642													T	100377162	C	T	100377162	1	4	598	0	1	0	0	0	0	0	0	0	17615	759	27	1		1	ZAN	7	100377162	RNA	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	64504717	100377162	58761501	25	50095											
GRM8	2918	broad.mit.edu	37	chr7	126173579	126173579	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcacgtaactaagttcGcgtcctgaagccctcacgat	11	8	10	12	4	1	1	1	1	0	0	3	3	2	2	2	1	3	3	2	1	3	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:126173579G>A	ENST00000339582.2	-	9	2665	c.1857C>T	c.(1855-1857)cgC>cgT	p.R619R	GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000444921.2_Silent_p.R619R|GRM8_ENST00000358373.3_Silent_p.R619R			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	619					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		p.R619R(1)		breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	AACTAAGTTCGCGTCCTGAAG	0.458										HNSCC(24;0.065)			A	126173579	G	A	126173579	2	1	598	1	0	0	0	0	0	0	0	1	6858	1074	38	1		1	GRM8	7	126173579	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	25796417	126173579	32965084	26	50096											
ADCK2	90956	broad.mit.edu	37	chr7	140373257	140373257	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgccaggctctgctggcttCtgctgggcactttgcccaag	5	11	12	13	0	2	0	0	0	2	0	2	0	2	0	2	3	4	5	2	3	1	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:140373257C>G	ENST00000072869.4	+	1	305	c.127C>G	c.(127-129)Ctg>Gtg	p.L43V	ADCK2_ENST00000476491.1_Missense_Mutation_p.L43V	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	43						integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					CTGCTGGCTTCTGCTGGGCAC	0.682													G	140373257	C	G	140373257	3	3	598	1	0	0	0	0	1	0	0	0	289	912	32	4	129	4	ADCK2	7	140373257	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	14199678	140373257	18765406	27	50097											
TRPV6	55503	broad.mit.edu	37	chr7	142573633	142573633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtccactgggtgtgcttccGcttctgcatcaggtgctgaa	5	12	12	12	2	2	1	1	1	1	0	4	1	4	1	2	2	3	4	2	2	1	2	rs146718533		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142573633G>A	ENST00000359396.3	-	7	1032	c.787C>T	c.(787-789)Cgg>Tgg	p.R263W	RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	263					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTGTGCTTCCGCTTCTGCATC	0.522													A	142573633	G	A	142573633	3	1	598	1	0	0	0	0	1	0	0	0	16701	1086	38	1	1426	1	TRPV6	7	142573633	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2200376	142573633	16565030	28	50098											
TAS2R40	259286	broad.mit.edu	37	chr7	142919653	142919653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagcttcagctttcctctctCgagagatgtcttcaatgtgt	8	15	8	10	1	4	1	2	0	2	1	7	3	5	1	1	0	2	2	1	0	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:142919653C>T	ENST00000408947.3	+	1	524	c.482C>T	c.(481-483)tCg>tTg	p.S161L		NM_176882.1	NP_795363.1	P59535	T2R40_HUMAN	taste receptor, type 2, member 40	161					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8	Melanoma(164;0.059)					TTTCCTCTCTCGAGAGATGTC	0.458													T	142919653	C	T	142919653	3	4	598	1	0	0	0	0	1	0	0	0	15675	893	31	1	484	1	TAS2R40	7	142919653	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	346020	142919653	16219010	29	50099											
CNTNAP2	26047	broad.mit.edu	37	chr7	147259309	147259309	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatagatcctgatggcagCggacctctggggcctctgaa	8	9	14	10	1	2	3	0	2	2	1	3	5	3	5	3	5	1	1	3	5	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr7:147259309C>T	ENST00000361727.3	+	12	2373	c.1857C>T	c.(1855-1857)agC>agT	p.S619S		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	619	Fibrinogen C-terminal.				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			CTGATGGCAGCGGACCTCTGG	0.398										HNSCC(39;0.1)			T	147259309	C	T	147259309	2	4	598	1	0	0	0	0	0	0	0	1	3678	767	27	1		1	CNTNAP2	7	147259309	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	4339656	147259309	11879354	30	50100											
DEFA4	1669	broad.mit.edu	37	chr8	6793553	6793553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagaacgttaatcgacacGcgtgcagcagtatgtgaaac	14	7	11	9	4	0	2	0	1	0	1	1	3	0	2	0	0	5	5	0	0	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:6793553G>A	ENST00000297435.2	-	3	407	c.283C>T	c.(283-285)Cgt>Tgt	p.R95C		NM_001925.1	NP_001916.1	P12838	DEF4_HUMAN	defensin, alpha 4, corticostatin	95					defense response to bacterium|defense response to fungus|killing of cells of other organism	extracellular space				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	10				COAD - Colon adenocarcinoma(149;0.0572)|READ - Rectum adenocarcinoma(644;0.121)		TAATCGACACGCGTGCAGCAG	0.507													A	6793553	G	A	6793553	3	1	598	1	0	0	0	0	1	0	0	0	4425	1087	38	1	14	1	DEFA4	8	6793553	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		6793553	139570469	31	50101											
FER1L6	654463	broad.mit.edu	37	chr8	125107242	125107242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaacacatagaaactcGgccactgtaccacaaggata	15	7	7	12	1	0	2	0	1	0	1	2	3	1	3	3	2	3	1	3	2	6	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:125107242G>A	ENST00000522917.1	+	35	4864	c.4658G>A	c.(4657-4659)cGg>cAg	p.R1553Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1553Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1553						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			ATAGAAACTCGGCCACTGTAC	0.478													A	125107242	G	A	125107242	3	1	598	1	0	0	0	0	1	0	0	0	5864	1116	39	1	4792	1	FER1L6	8	125107242	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	118313689	125107242	21256780	32	50102											
EPPK1	83481	broad.mit.edu	37	chr8	144941624	144941624	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacccggtggcggcctgcGcctccagcagccaagtcgca	7	4	14	16	4	0	0	0	0	0	0	2	1	1	1	5	4	4	2	5	4	2	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144941624G>A	ENST00000525985.1	-	2	5869	c.5798C>T	c.(5797-5799)gCg>gTg	p.A1933V				P58107	EPIPL_HUMAN	epiplakin 1	1933						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCGGCCTGCGCCTCCAGCAG	0.667													A	144941624	G	A	144941624	3	1	598	1	0	0	0	0	1	0	0	0	5231	1087	38	1	1468	1	EPPK1	8	144941624	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	19834382	144941624	1422398	33	50103											
PLEC	5339	broad.mit.edu	37	chr8	144990367	144990367	+	Frame_Shift_Del	DEL	C	C	-																															aggccacggcagactcagggCcccccagggaggccgaggac																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr8:144990367delC	ENST00000322810.4	-	32	14202	c.14033delG	c.(14032-14034)ggcfs	p.G4678fs	PLEC_ENST00000354958.2_Frame_Shift_Del_p.G4519fs|PLEC_ENST00000398774.2_Frame_Shift_Del_p.G4509fs|PLEC_ENST00000345136.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000356346.3_Frame_Shift_Del_p.G4527fs|PLEC_ENST00000354589.3_Frame_Shift_Del_p.G4541fs|PLEC_ENST00000357649.2_Frame_Shift_Del_p.G4545fs|PLEC_ENST00000436759.2_Frame_Shift_Del_p.G4568fs|PLEC_ENST00000527096.1_Frame_Shift_Del_p.G4564fs	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4678	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						AGACTCAGGGCCCCCCAGGGA	0.716													-	144990367	C	-	144990367	7	5	598	1	0	1	0	1	0	0	0	0	12129	739	26	0	25	0	PLEC	8	144990367	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	48743	144990367	1373655	34	50104											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18906845	18906845	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacaaggcagtgcctgagcAcctgtgctcctgggggcccc	7	6	13	15	0	0	1	0	1	0	0	1	1	1	1	5	3	4	3	5	3	2	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:18906845A>T	ENST00000380548.4	+	28	5456	c.5117A>T	c.(5116-5118)cAc>cTc	p.H1706L	ADAMTSL1_ENST00000380545.5_Missense_Mutation_p.H407L	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1706	TSP type-1 9.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GTGCCTGAGCACCTGTGCTCC	0.597													T	18906845	A	T	18906845	3	4	598	1	0	0	0	0	1	0	0	0	274	159	6	5	5231	5	ADAMTSL1	9	18906845	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08		18906845	122306586	35	50105											
RUSC2	9853	broad.mit.edu	37	chr9	35546640	35546640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggaggtggtgggagcacaaGacctaatcccttctgcccac	9	8	12	12	0	1	1	0	0	1	1	2	3	2	3	3	4	2	1	3	4	2	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35546640G>C	ENST00000455600.1	+	2	691	c.122G>C	c.(121-123)aGa>aCa	p.R41T	RUSC2_ENST00000468041.1_3'UTR	NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	41						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGGAGCACAAGACCTAATCCC	0.592													C	35546640	G	C	35546640	3	2	598	1	0	0	0	0	1	0	0	0	13842	942	33	4	124	4	RUSC2	9	35546640	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	16639795	35546640	105666791	36	50106											
RUSC2	9853	broad.mit.edu	37	chr9	35548107	35548107	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgagtgagggccctgcagCcatggccgggcctggctccc	4	7	15	15	1	0	2	0	2	0	0	1	2	1	2	5	4	2	2	5	4	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:35548107C>A	ENST00000455600.1	+	2	2158	c.1589C>A	c.(1588-1590)gCc>gAc	p.A530D		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	530						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			GGCCCTGCAGCCATGGCCGGG	0.667													A	35548107	C	A	35548107	3	1	598	1	0	0	0	0	1	0	0	0	13842	739	26	4	1591	4	RUSC2	9	35548107	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	1467	35548107	105665324	37	50107											
PTAR1	375743	broad.mit.edu	37	chr9	72349082	72349082	+	Frame_Shift_Del	DEL	C	C	-																															acacctgtgaatccatgtttCtggactctttggaaacttgg																										TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr9:72349082delC	ENST00000377200.5	-	2	177	c.175delG	c.(175-177)gaafs	p.E59fs	PTAR1_ENST00000340434.4_Frame_Shift_Del_p.E138fs			Q7Z6K3	PTAR1_HUMAN	protein prenyltransferase alpha subunit repeat containing 1	138					protein prenylation		protein prenyltransferase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)	5						ATCCATGTTTCTGGACTCTTT	0.388													-	72349082	C	-	72349082	7	5	598	1	0	1	0	1	0	0	0	0	12809	922	32	0	816	0	PTAR1	9	72349082	Frame_Shift_Del	DEL	C	TCGA-HT-A5RA-01A-11D-A289-08	36800975	72349082	68864349	38	50108											
WAPAL	23063	broad.mit.edu	37	chr10	88231975	88231975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagatcttacctaaggcaacGtgtgtttagaggctgagtgc	11	11	12	7	1	1	3	0	1	1	2	1	3	1	3	1	2	3	3	1	2	5	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:88231975G>A	ENST00000298767.5	-	7	2492	c.2020C>T	c.(2020-2022)Cgt>Tgt	p.R674C		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	674	WAPL.				cell division|interspecies interaction between organisms|mitosis|negative regulation of chromatin binding|negative regulation of DNA replication|negative regulation of sister chromatid cohesion|protein localization to chromatin|regulation of cohesin localization to chromatin	chromatin|cohesin complex|cytoplasm	protein binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						CTAAGGCAACGTGTGTTTAGA	0.333													A	88231975	G	A	88231975	3	1	598	1	0	0	0	0	1	0	0	0	17350	1145	40	1	1604	1	WAPAL	10	88231975	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		88231975	47302772	39	50109											
PTEN	5728	broad.mit.edu	37	chr10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgacaatcatgttgcaGcaattcactgtaaagctgga	15	10	9	7	0	2	2	2	1	0	1	2	3	2	3	0	1	3	5	0	1	5	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type.		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCATGTTGCAGCAATTCACTG	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692877	G	A	89692877	3	1	598	1	0	0	0	0	1	0	0	0	12823	971	34	2	379	2	PTEN	10	89692877	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	1460902	89692877	45841870	40	50110											
TNNT3	7140	broad.mit.edu	37	chr11	1956135	1956135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtttggggagaagctgaaaCgccagaaatatgacgtgagt	14	8	14	5	2	0	5	0	3	0	2	0	6	0	5	1	2	2	2	1	2	4	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:1956135C>T	ENST00000381558.1	+	13	922	c.643C>T	c.(643-645)Cgc>Tgc	p.R215C	TNNT3_ENST00000381561.4_Missense_Mutation_p.R226C|TNNT3_ENST00000397304.2_Missense_Mutation_p.R204C|TNNT3_ENST00000446240.1_Missense_Mutation_p.R204C|TNNT3_ENST00000360603.3_Missense_Mutation_p.R217C|TNNT3_ENST00000381548.3_Missense_Mutation_p.R225C|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000397301.1_Missense_Mutation_p.R234C|TNNT3_ENST00000278317.6_Missense_Mutation_p.R223C|TNNT3_ENST00000381549.3_Missense_Mutation_p.R215C|TNNT3_ENST00000381589.3_Missense_Mutation_p.R221C|TNNT3_ENST00000381579.3_Missense_Mutation_p.R215C			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	234					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding	p.R223C(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCTGAAACGCCAGAAATA	0.612													T	1956135	C	T	1956135	3	4	598	1	0	0	0	0	1	0	0	0	16432	536	19	1	758	1	TNNT3	11	1956135	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		1956135	133050381	41	50111											
OR51T1	401665	broad.mit.edu	37	chr11	4903765	4903765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctgaatggcactgaCgtattgtttattcttttctc	7	18	6	10	1	3	2	0	2	3	0	4	2	3	2	1	1	1	3	1	1	4	8	rs138268565		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:4903765C>T	ENST00000380378.1	+	1	717	c.717C>T	c.(715-717)gaC>gaT	p.D239D	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													T	4903765	C	T	4903765	2	4	598	1	0	0	0	0	0	0	0	1	11182	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	2947630	4903765	130102751	42	50112											
AHNAK	79026	broad.mit.edu	37	chr11	62287402	62287402	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggggcccttcagttttgcGtctggaccttcgatattcac	5	15	10	11	2	3	0	2	0	1	0	4	2	3	1	2	3	1	1	2	3	1	7	rs141073062		TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr11:62287402G>A	ENST00000378024.4	-	5	14761	c.14487C>T	c.(14485-14487)gaC>gaT	p.D4829D	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4829					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAGTTTTGCGTCTGGACCTT	0.488													A	62287402	G	A	62287402	2	1	598	1	0	0	0	0	0	0	0	1	414	1136	40	1		1	AHNAK	11	62287402	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	57383637	62287402	72719114	43	50113											
SLC6A12	6539	broad.mit.edu	37	chr12	311930	311930	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttccaaaagttgttgcaggTcgtccagggcagctcagaag	10	9	13	9	1	1	1	1	0	0	1	4	1	3	1	2	2	2	6	2	2	3	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:311930T>G	ENST00000428720.1	-	5	1209	c.466A>C	c.(466-468)Acc>Ccc	p.T156P	SLC6A12_ENST00000359674.4_Missense_Mutation_p.T156P|SLC6A12_ENST00000536824.1_Missense_Mutation_p.T156P|SLC6A12_ENST00000424061.2_Missense_Mutation_p.T156P|SLC6A12_ENST00000538272.1_5'UTR|SLC6A12_ENST00000397296.2_Missense_Mutation_p.T156P	NM_001122848.2	NP_001116320.1	P48065	S6A12_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 12	156					cellular nitrogen compound metabolic process|neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	26	all_cancers(10;0.0172)|all_epithelial(11;0.0283)|all_lung(10;0.0392)|Lung NSC(10;0.0567)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00227)			TTGTTGCAGGTCGTCCAGGGC	0.517													G	311930	T	G	311930	3	3	598	1	0	0	0	0	1	0	0	0	14769	1667	58	5	1426	5	SLC6A12	12	311930	Missense_Mutation	SNP	T	TCGA-HT-A5RA-01A-11D-A289-08		311930	133539965	44	50114											
KCNH3	23416	broad.mit.edu	37	chr12	49937975	49937975	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtacttcggggcccatctGctgaagacggtgcgcctgct	6	9	13	13	3	1	2	0	1	1	1	2	2	1	2	2	3	4	3	2	3	2	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:49937975G>T	ENST00000257981.6	+	7	1259	c.999G>T	c.(997-999)ctG>ctT	p.L333L		NM_012284.1	NP_036416.1	Q9ULD8	KCNH3_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 3	333					regulation of transcription, DNA-dependent	integral to membrane	two-component sensor activity|voltage-gated potassium channel activity			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(20)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	36						GGGCCCATCTGCTGAAGACGG	0.701													T	49937975	G	T	49937975	2	4	598	1	0	0	0	0	0	0	0	1	8091	1306	46	4		4	KCNH3	12	49937975	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	49626045	49937975	83913920	45	50115											
NACA	4666	broad.mit.edu	37	chr12	57112308	57112308	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttgggggatggAgtagctggacctcctttggg	4	10	18	9	0	0	0	0	0	0	0	1	3	1	3	4	7	1	2	4	7	1	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000551793.1_Intron|NACA_ENST00000546392.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								G	57112308	A	G	57112308	2	3	598	1	0	0	0	0	0	0	0	1	10209	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	7174333	57112308	76739587	46	50116											
ACADS	35	broad.mit.edu	37	chr12	121176678	121176678	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggctgctgacctggcGcgctgccatgctgaaggata	6	8	14	13	3	0	2	0	2	0	0	0	3	0	3	3	3	4	4	3	3	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr12:121176678G>A	ENST00000242592.4	+	8	1140	c.989G>A	c.(988-990)cGc>cAc	p.R330H	ACADS_ENST00000411593.2_Missense_Mutation_p.R326H	NM_000017.2	NP_000008.1	P16219	ACADS_HUMAN	acyl-CoA dehydrogenase, C-2 to C-3 short chain	330						mitochondrial matrix	butyryl-CoA dehydrogenase activity	p.R330H(2)		central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)	14	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)	Lung NSC(355;0.163)			NADH(DB00157)	CTGACCTGGCGCGCTGCCATG	0.642													A	121176678	G	A	121176678	3	1	598	1	0	0	0	0	1	0	0	0	114	1087	38	1	1019	1	ACADS	12	121176678	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	64064370	121176678	12675217	47	50117											
NPAS3	64067	broad.mit.edu	37	chr14	34263138	34263138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgtgtgacaaagtactatCgctggatgcagaagaacgga	14	8	13	6	2	0	3	0	1	0	2	1	5	0	5	0	2	3	3	0	2	5	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr14:34263138C>T	ENST00000346562.2	+	9	1167	c.1093C>T	c.(1093-1095)Cgc>Tgc	p.R365C	NPAS3_ENST00000356141.4_Missense_Mutation_p.R397C|NPAS3_ENST00000548645.1_Missense_Mutation_p.R367C|NPAS3_ENST00000357798.5_Missense_Mutation_p.R384C|NPAS3_ENST00000551492.1_Missense_Mutation_p.R402C	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	397	PAC.|PAS 2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		AAAGTACTATCGCTGGATGCA	0.373													T	34263138	C	T	34263138	3	4	598	1	0	0	0	0	1	0	0	0	10640	884	31	1	1282	1	NPAS3	14	34263138	Missense_Mutation	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		34263138	73086402	48	50118											
TELO2	9894	broad.mit.edu	37	chr16	1552359	1552359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgctgggaggcagccctgcGggcccttgagggcctggtct	3	7	18	13	2	1	1	0	1	1	0	1	2	1	2	3	5	2	2	3	5	0	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:1552359G>A	ENST00000262319.6	+	13	1886	c.1607G>A	c.(1606-1608)cGg>cAg	p.R536Q	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	536						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				GCAGCCCTGCGGGCCCTTGAG	0.667													A	1552359	G	A	1552359	3	1	598	1	0	0	0	0	1	0	0	0	15857	1116	39	1	1653	1	TELO2	16	1552359	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		1552359	88802394	49	50119											
PRSS27	83886	broad.mit.edu	37	chr16	2762757	2762757	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccctcaccccagctgatcAcccccgcctgcagccacgac	8	4	7	22	2	2	1	2	1	0	0	2	2	2	1	7	0	4	2	7	0	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr16:2762757A>C	ENST00000302641.3	-	6	791	c.737T>G	c.(736-738)gTg>gGg	p.V246G		NM_031948.3	NP_114154.1	Q9BQR3	PRS27_HUMAN	protease, serine 27	246	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)	8						CCAGCTGATCACCCCCGCCTG	0.667													C	2762757	A	C	2762757	3	2	598	1	0	0	0	0	1	0	0	0	12706	159	6	5	139	5	PRSS27	16	2762757	Missense_Mutation	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	1210398	2762757	87591996	50	50120											
DNAH2	146754	broad.mit.edu	37	chr17	7637984	7637984	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctgcaccttgccaagtcGtcctacttggcgccctttat	6	13	7	15	2	0	0	0	0	0	0	3	0	2	0	5	1	3	1	5	1	3	5			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:7637984G>A	ENST00000572933.1	+	7	2396	c.936G>A	c.(934-936)tcG>tcA	p.S312S	DNAH2_ENST00000570791.1_Silent_p.S312S|DNAH2_ENST00000082259.3_Silent_p.S312S|DNAH2_ENST00000389173.2_Silent_p.S312S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	312	Stem (By similarity).		S -> T (in dbSNP:rs3744254).		ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.S312S(1)		NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTGCCAAGTCGTCCTACTTGG	0.522													A	7637984	G	A	7637984	2	1	598	1	0	0	0	0	0	0	0	1	4641	1132	40	1		1	DNAH2	17	7637984	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		7637984	73557226	51	50121											
ARHGEF15	22899	broad.mit.edu	37	chr17	8216517	8216517	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggcaggatgccaccattttCggggaccccccacagccaga	10	5	11	15	1	0	1	0	0	0	1	1	3	0	3	6	4	2	1	6	4	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8216517C>T	ENST00000361926.3	+	3	989	c.879C>T	c.(877-879)ttC>ttT	p.F293F	ARHGEF15_ENST00000421050.1_Silent_p.F293F	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	293					negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CCACCATTTTCGGGGACCCCC	0.592													T	8216517	C	T	8216517	2	4	598	1	0	0	0	0	0	0	0	1	901	883	31	1		1	ARHGEF15	17	8216517	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	578533	8216517	72978693	52	50122											
MYH10	4628	broad.mit.edu	37	chr17	8379260	8379260	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagaagctgatggggccAccccgcctggagaacacagg	12	3	15	11	1	0	3	0	1	0	2	0	6	0	3	4	4	2	1	4	4	3	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:8379260A>C	ENST00000360416.3	-	43	6024	c.5886T>G	c.(5884-5886)ggT>ggG	p.G1962G	MYH10_ENST00000379980.4_Silent_p.G1947G|MYH10_ENST00000396239.1_Silent_p.G1952G|MYH10_ENST00000269243.4_Silent_p.G1931G|NDEL1_ENST00000299734.7_Intron	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	1931					actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						TGATGGGGCCACCCCGCCTGG	0.567													C	8379260	A	C	8379260	2	2	598	1	0	0	0	0	0	0	0	1	10106	146	6	5		5	MYH10	17	8379260	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	162743	8379260	72815950	53	50123											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274238	39274238	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacacagcagctggggcgAcagcagctggagatgcagca	12	3	15	11	1	0	1	0	0	0	1	0	4	0	1	0	3	6	6	0	3	0	0			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr17:39274238A>G	ENST00000391413.2	-	1	368	c.330T>C	c.(328-330)tgT>tgC	p.C110C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	110	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			agctggggcgacagcagctgg	0.652													G	39274238	A	G	39274238	2	3	598	1	0	0	0	0	0	0	0	1	8608	273	10	3		3	KRTAP4-11	17	39274238	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	30894978	39274238	41920972	54	50124											
SEC11C	90701	broad.mit.edu	37	chr18	56823020	56823020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctggaaaagaaggacGtggtgggaagagcaagaggg	14	4	19	4	1	0	3	0	0	0	3	0	6	0	6	0	6	1	2	0	6	5	0	rs115898236	by1000genomes	TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr18:56823020G>A	ENST00000587834.1	+	4	920	c.448G>A	c.(448-450)Gtg>Atg	p.V150M	SEC11C_ENST00000588875.1_Missense_Mutation_p.V150M	NM_033280.2	NP_150596.1	Q9BY50	SC11C_HUMAN	SEC11 homolog C (S. cerevisiae)	150					energy reserve metabolic process|regulation of insulin secretion|signal peptide processing	endoplasmic reticulum membrane|integral to membrane|microsome	serine-type peptidase activity			endometrium(1)|large_intestine(4)|liver(2)|lung(2)	9		Colorectal(73;0.175)				AAAGAAGGACGTGGTGGGAAG	0.363													A	56823020	G	A	56823020	3	1	598	1	0	0	0	0	1	0	0	0	14072	1145	40	1	462	1	SEC11C	18	56823020	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		56823020	21254228	55	50125											
CD22	933	broad.mit.edu	37	chr19	35831915	35831915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaatggaaaccccatggcGcctgggaggagccatcgctt	10	7	13	11	2	0	1	0	1	0	0	1	4	0	4	4	4	2	1	4	4	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:35831915G>A	ENST00000085219.5	+	7	1447	c.1381G>A	c.(1381-1383)Gcc>Acc	p.A461T	CD22_ENST00000544992.2_Missense_Mutation_p.A461T|CD22_ENST00000419549.2_Missense_Mutation_p.A289T|CD22_ENST00000536635.2_Missense_Mutation_p.A373T|CD22_ENST00000270311.6_Missense_Mutation_p.A341T|CD22_ENST00000594250.1_Missense_Mutation_p.A284T|CD22_ENST00000341773.6_Missense_Mutation_p.A284T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	461	Ig-like C2-type 4.				cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	ACCCCATGGCGCCTGGGAGGA	0.542													A	35831915	G	A	35831915	3	1	598	1	0	0	0	0	1	0	0	0	3015	1087	38	1	1403	1	CD22	19	35831915	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		35831915	23297068	56	50126											
SIPA1L3	23094	broad.mit.edu	37	chr19	38572687	38572687	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggccccggtcccccggcaGggccttcctcccccttcggc	1	7	12	21	3	0	0	0	0	0	0	4	0	3	0	8	5	0	1	8	5	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:38572687G>A	ENST00000222345.6	+	3	991	c.482G>A	c.(481-483)aGg>aAg	p.R161K		NM_015073.1	NP_055888.1	O60292	SI1L3_HUMAN	signal-induced proliferation-associated 1 like 3	161					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(22)|ovary(2)|prostate(4)|skin(3)	59			Lung(45;0.000246)|LUSC - Lung squamous cell carcinoma(53;0.000292)			TCCCCCGGCAGGGCCTTCCTC	0.711													A	38572687	G	A	38572687	3	1	598	1	0	0	0	0	1	0	0	0	14425	1000	35	2	484	2	SIPA1L3	19	38572687	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2740772	38572687	20556296	57	50127											
ZNF331	55422	broad.mit.edu	37	chr19	54081063	54081063	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgggtgtacagaatgtGggaagagctttagtcacggc	10	10	14	7	1	1	2	1	0	0	2	1	3	1	3	1	3	2	2	1	3	5	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr19:54081063G>A	ENST00000253144.9	+	7	2582	c.1249G>A	c.(1249-1251)Ggg>Agg	p.G417R	ZNF331_ENST00000449416.1_Missense_Mutation_p.G417R|ZNF331_ENST00000513999.1_Missense_Mutation_p.G417R|ZNF331_ENST00000511593.2_Missense_Mutation_p.G417R|ZNF331_ENST00000411977.2_Missense_Mutation_p.G417R|ZNF331_ENST00000511154.1_Missense_Mutation_p.G417R|ZNF331_ENST00000512387.1_Missense_Mutation_p.G417R	NM_001253801.1|NM_018555.5	NP_001240730.1|NP_061025.5	Q9NQX6	ZN331_HUMAN	zinc finger protein 331	417					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|large_intestine(1)|lung(1)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	10				GBM - Glioblastoma multiforme(134;0.00555)		TACAGAATGTGGGAAGAGCTT	0.473			T	?	follicular thyroid adenoma								A	54081063	G	A	54081063	3	1	598	1	0	0	0	0	1	0	0	0	17950	1348	47	2	1259	2	ZNF331	19	54081063	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	15508376	54081063	5047920	58	50128											
LAMA5	3911	broad.mit.edu	37	chr20	60885876	60885876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatccggttcttctcccagcGcacggagacctgggggcagg	6	7	15	13	3	2	1	0	0	2	1	4	3	3	1	3	5	1	3	3	5	0	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr20:60885876G>T	ENST00000252999.3	-	75	10357	c.10291C>A	c.(10291-10293)Cgc>Agc	p.R3431S		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	3431	Laminin G-like 4.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTCTCCCAGCGCACGGAGACC	0.721													T	60885876	G	T	60885876	3	4	598	1	0	0	0	0	1	0	0	0	8668	1087	38	4	820	4	LAMA5	20	60885876	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		60885876	2139644	59	50129											
GART	2618	broad.mit.edu	37	chr21	34911630	34911630	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcgggctgccattgttctgtCtgtaaagcagaaattccaaa	11	12	9	9	1	2	1	0	0	2	1	4	1	3	1	2	1	2	4	2	1	4	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr21:34911630C>T	ENST00000381831.3	-	2	256		c.e2-1		GART_ENST00000361093.5_5'UTR|GART_ENST00000381839.3_5'UTR|GART_ENST00000381815.4_5'UTR	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase						'de novo' IMP biosynthetic process|purine base biosynthetic process	cytosol	ATP binding|metal ion binding|methyltransferase activity|phosphoribosylamine-glycine ligase activity|phosphoribosylformylglycinamidine cyclo-ligase activity|phosphoribosylglycinamide formyltransferase activity|protein binding			NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	ATTGTTCTGTCTGTAAAGCAG	0.438													T	34911630	C	T	34911630	5	4	598	1	0	0	0	0	0	0	1	0	6297	927	32	2		2	GART	21	34911630	Splice_Site	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		34911630	13218265	60	50130											
PI4KA	5297	broad.mit.edu	37	chr22	21083938	21083938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagggacagcagcagCgtcctgcgcttcatgtagta	10	7	12	12	2	1	0	1	0	0	0	2	1	2	1	2	1	5	6	2	1	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chr22:21083938C>T	ENST00000255882.6	-	38	4556	c.4470G>A	c.(4468-4470)acG>acA	p.T1490T	PI4KA_ENST00000414196.3_Silent_p.T242T|PI4KA_ENST00000572273.1_Silent_p.T1432T	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1432					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			ACAGCAGCAGCGTCCTGCGCT	0.597													T	21083938	C	T	21083938	2	4	598	1	0	0	0	0	0	0	0	1	11950	755	27	1		1	PI4KA	22	21083938	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08		21083938	30220628	61	50131											
KDM6A	7403	broad.mit.edu	37	chrX	44949046	44949046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttgaagatctttatgaaGcaaatgttccagtgtatagg	13	14	9	5	0	2	3	0	2	2	1	3	3	3	3	1	1	1	3	1	1	6	6			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:44949046G>A	ENST00000377967.4	+	25	3648	c.3607G>A	c.(3607-3609)Gca>Aca	p.A1203T	KDM6A_ENST00000382899.4_Missense_Mutation_p.A1210T|KDM6A_ENST00000543216.1_Missense_Mutation_p.A1124T|KDM6A_ENST00000536777.1_Missense_Mutation_p.A1158T	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	1203	JmjC.				histone H3-K4 methylation		metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.0?(6)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						TCTTTATGAAGCAAATGTTCC	0.373			"D, N, F, S"		"renal, oesophageal SCC, MM"								A	44949046	G	A	44949046	3	1	598	1	0	0	0	0	1	0	0	0	8195	971	34	2	3705	2	KDM6A	23	44949046	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08		44949046	110321514	62	50132											
ZNF41	7592	broad.mit.edu	37	chrX	47307146	47307146	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgttatgagatttgatcGgtcagtgaaggcctttccac	9	14	11	7	1	1	3	1	3	0	1	3	4	2	3	2	2	0	1	2	2	2	3			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:47307146G>A	ENST00000377065.4	-	5	2662	c.2023C>T	c.(2023-2025)Cga>Tga	p.R675*	ZNF41_ENST00000313116.7_Nonsense_Mutation_p.R675*|ZNF41_ENST00000397050.2_Nonsense_Mutation_p.R685*	NM_153380.2	NP_700359.1	P51814	ZNF41_HUMAN	zinc finger protein 41	717						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|upper_aerodigestive_tract(2)	24		all_lung(315;0.000129)				AGATTTGATCGGTCAGTGAAG	0.448													A	47307146	G	A	47307146	4	1	598	1	0	0	0	0	0	1	0	0	17990	1124	39	1	320	1	ZNF41	23	47307146	Nonsense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	2358100	47307146	107963414	63	50133											
TGIF2LX	90316	broad.mit.edu	37	chrX	89177102	89177102	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggaggccgctgcggaCggcccggctgagacccaaag	10	4	15	12	4	0	1	0	1	0	1	0	4	0	3	3	5	1	2	3	5	3	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:89177102C>T	ENST00000561129.2	+	1	148	c.18C>T	c.(16-18)gaC>gaT	p.D6D	TGIF2LX_ENST00000283891.5_Silent_p.D6D			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	6						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D6D(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						CCGCTGCGGACGGCCCGGCTG	0.517													T	89177102	C	T	89177102	2	4	598	1	0	0	0	0	0	0	0	1	15927	535	19	1		1	TGIF2LX	23	89177102	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	41869956	89177102	66093458	64	50134											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960229	117960229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgcgtagagccaggaagcGaaaacacacaatccgctgtt	14	6	11	10	3	0	1	0	0	0	1	1	4	1	2	2	1	4	3	2	1	5	2			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:117960229G>A	ENST00000310164.2	+	4	1529	c.1022G>A	c.(1021-1023)cGa>cAa	p.R341Q		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	341					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						GCCAGGAAGCGAAAACACACA	0.493													A	117960229	G	A	117960229	3	1	598	1	0	0	0	0	1	0	0	0	17682	1058	37	1	1024	1	ZCCHC12	23	117960229	Missense_Mutation	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	28783127	117960229	37310331	65	50135											
MAP7D3	79649	broad.mit.edu	37	chrX	135313709	135313709	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacttgacaaacctttggAgcgtctctcgcttttgcctt	6	14	9	12	2	1	1	0	1	1	0	3	2	1	2	2	2	3	2	2	2	1	5			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:135313709A>G	ENST00000316077.9	-	8	1627	c.1407T>C	c.(1405-1407)gcT>gcC	p.A469A	MAP7D3_ENST00000370663.5_Silent_p.A451A|MAP7D3_ENST00000370661.1_Silent_p.A434A	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	469						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					AAACCTTTGGAGCGTCTCTCG	0.423													G	135313709	A	G	135313709	2	3	598	1	0	0	0	0	0	0	0	1	9344	291	11	3		3	MAP7D3	23	135313709	Silent	SNP	A	TCGA-HT-A5RA-01A-11D-A289-08	17353480	135313709	19956851	66	50136											
MAMLD1	10046	broad.mit.edu	37	chrX	149638772	149638772	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcccaccagctgaaggcGttggcagccagcaagcaggg	10	3	14	14	2	0	1	0	1	0	0	0	1	0	1	3	3	4	5	3	3	2	1			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:149638772G>A	ENST00000370401.2	+	4	1237	c.927G>A	c.(925-927)gcG>gcA	p.A309A	MAMLD1_ENST00000426613.2_Silent_p.A284A|MAMLD1_ENST00000432680.2_Silent_p.A284A|MAMLD1_ENST00000262858.5_Silent_p.A309A			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	309					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		p.A236A(1)|p.A309A(1)		breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					AGCTGAAGGCGTTGGCAGCCA	0.632													A	149638772	G	A	149638772	2	1	598	1	0	0	0	0	0	0	0	1	9283	1132	40	1		1	MAMLD1	23	149638772	Silent	SNP	G	TCGA-HT-A5RA-01A-11D-A289-08	14325063	149638772	5631788	67	50137											
BGN	633	broad.mit.edu	37	chrX	152773771	152773771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttctgtcccatgggcttCggggtgaagcgggcctacta	6	10	14	11	2	1	1	0	1	1	0	3	2	2	1	2	4	2	1	2	4	3	4			TCGA-HT-A5RA-01A-11D-A289-08	TCGA-HT-A5RA-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c72304bb-c1bd-4b35-8fff-116aa6b680f4	947d02d9-a22f-4b5c-9284-06baad55b580	g.chrX:152773771C>T	ENST00000331595.4	+	8	1161	c.975C>T	c.(973-975)ttC>ttT	p.F325F	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	325						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCATGGGCTTCGGGGTGAAGC	0.617													T	152773771	C	T	152773771	2	4	598	1	0	0	0	0	0	0	0	1	1424	883	31	1		1	BGN	23	152773771	Silent	SNP	C	TCGA-HT-A5RA-01A-11D-A289-08	3134999	152773771	2496789	68	50138											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													G	74757186	-	G	74757185	7	5	599	1	0	1	1	0	0	0	0	0	7512	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		74757185	168442188	1	50139											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	599	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	134355927	209113112	34086261	2	50140											
FBN2	2201	broad.mit.edu	37	chr5	127640762	127640762	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaacgttaggaatttctaaaCattcattgcgatctaaaaca	17	12	5	7	2	3	0	1	0	2	0	3	2	3	1	0	1	4	1	0	1	7	6			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:127640762C>A	ENST00000508053.1	-	51	6661	c.5687G>T	c.(5686-5688)tGt>tTt	p.C1896F	FBN2_ENST00000262464.4_Missense_Mutation_p.C1896F			P35556	FBN2_HUMAN	fibrillin 2	1896	EGF-like 31; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		AATTTCTAAACATTCATTGCG	0.353													A	127640762	C	A	127640762	3	1	599	1	0	0	0	0	1	0	0	0	5752	478	17	4	3135	4	FBN2	5	127640762	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		127640762	53274498	3	50141											
TGFBI	7045	broad.mit.edu	37	chr5	135382574	135382574	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctggtcagcaatgtcaacaTtgagctgctcaatgccctcc	9	10	8	14	0	3	1	3	1	0	0	4	1	4	1	3	1	5	3	3	1	3	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr5:135382574T>C	ENST00000442011.2	+	5	655	c.494T>C	c.(493-495)aTt>aCt	p.I165T	TGFBI_ENST00000305126.8_Missense_Mutation_p.I165T	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	165	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AATGTCAACATTGAGCTGCTC	0.537													C	135382574	T	C	135382574	3	2	599	1	0	0	0	0	1	0	0	0	15920	1493	52	3	512	3	TGFBI	5	135382574	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	7741812	135382574	45532686	4	50142											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000337523.5_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000375349.3_5'UTR|DXO_ENST00000478221.1_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	599	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RB-01A-11D-A289-08		31939829	139175238	5	50143											
LIMK1	3984	broad.mit.edu	37	chr7	73520287	73520287	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaatcaatggcacgcccAtccgaaatgtgcccctggac	11	7	10	13	2	1	0	1	0	0	0	2	3	2	2	4	3	1	1	4	3	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:73520287A>G	ENST00000418310.1	+	6	883	c.781A>G	c.(781-783)Atc>Gtc	p.I261V	LIMK1_ENST00000538333.3_Missense_Mutation_p.I197V|LIMK1_ENST00000336180.2_Missense_Mutation_p.I231V			P53667	LIMK1_HUMAN	LIM domain kinase 1	231					actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				TGGCACGCCCATCCGAAATGT	0.607													G	73520287	A	G	73520287	3	3	599	1	0	0	0	0	1	0	0	0	8861	217	8	3	713	3	LIMK1	7	73520287	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		73520287	85618376	6	50144											
DPP6	1804	broad.mit.edu	37	chr7	154002608	154002608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccaaggagccaagcgcttCggggaaatccgtgcagcagc	11	4	14	12	3	0	0	0	0	0	0	2	2	1	2	3	3	6	3	3	3	3	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:154002608C>T	ENST00000332007.3	+	1	414	c.29C>T	c.(28-30)tCg>tTg	p.S10L	DPP6_ENST00000404039.1_Intron|DPP6_ENST00000427557.1_Missense_Mutation_p.S10L|DPP6_ENST00000377770.3_Intron|DPP6_ENST00000406326.1_Intron|DPP6_ENST00000496611.1_3'UTR			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	0					cell death|proteolysis	integral to membrane	dipeptidyl-peptidase activity|serine-type peptidase activity			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CCAAGCGCTTCGGGGAAATCC	0.607													T	154002608	C	T	154002608	3	4	599	1	0	0	0	0	1	0	0	0	4769	893	31	1	333	1	DPP6	7	154002608	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	80482321	154002608	5136055	7	50145											
UBE3C	9690	broad.mit.edu	37	chr7	156932027	156932027	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccttggcggcgcgagcAggaaggtgagggccgggctg	5	6	20	10	4	0	1	0	1	0	0	1	3	1	2	2	6	1	2	2	6	1	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr7:156932027A>G	ENST00000348165.5	+	1	421	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	UBE3C_ENST00000389103.4_Missense_Mutation_p.R21G	NM_014671.2	NP_055486.2	Q15386	UBE3C_HUMAN	ubiquitin protein ligase E3C	21	Cis-determinant of acceptor ubiquitin- binding.				protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus|proteasome complex	protein binding|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(3)|kidney(16)|large_intestine(13)|lung(25)|ovary(2)|prostate(1)|urinary_tract(1)	63		all_hematologic(28;0.0185)|all_epithelial(9;0.0664)	OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)		CGGCGCGAGCAGGAAGGTGAG	0.751													G	156932027	A	G	156932027	3	3	599	1	0	0	0	0	1	0	0	0	16983	179	7	3	63	3	UBE3C	7	156932027	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	2929419	156932027	2206636	8	50146											
TNKS	8658	broad.mit.edu	37	chr8	9588459	9588459	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggccggcattccacgccCttacacttcgcagcaggcta	8	7	11	15	3	0	0	0	0	0	0	2	1	1	0	3	3	2	4	3	3	2	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:9588459C>T	ENST00000310430.6	+	14	2087	c.2061C>T	c.(2059-2061)ccC>ccT	p.P687P	TNKS_ENST00000518281.1_Silent_p.P450P	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	687					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		ATTCCACGCCCTTACACTTCG	0.498													T	9588459	C	T	9588459	2	4	599	1	0	0	0	0	0	0	0	1	16419	668	24	2		2	TNKS	8	9588459	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		9588459	136775563	9	50147											
PDGFRL	5157	broad.mit.edu	37	chr8	17447012	17447012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccaagaacaagcgtccaAaagaaccaggagagaataga	19	4	9	9	1	0	4	0	0	0	4	2	6	2	5	3	1	3	0	3	1	8	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr8:17447012A>G	ENST00000541323.1	+	3	536	c.91A>G	c.(91-93)Aaa>Gaa	p.K31E	PDGFRL_ENST00000251630.6_Missense_Mutation_p.K31E|PDGFRL_ENST00000398074.3_Missense_Mutation_p.K31E	NM_006207.2	NP_006198.1	Q15198	PGFRL_HUMAN	platelet-derived growth factor receptor-like	31						extracellular region	platelet activating factor receptor activity|platelet-derived growth factor beta-receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	9				Colorectal(111;0.0752)		CAAGCGTCCAAAAGAACCAGG	0.428													G	17447012	A	G	17447012	3	3	599	1	0	0	0	0	1	0	0	0	11739	15	1	3	97	3	PDGFRL	8	17447012	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	7858553	17447012	128917010	10	50148											
ACER2	340485	broad.mit.edu	37	chr9	19435024	19435024	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcctgccatcaacaacAtctctctgatgaccctggga	11	9	7	14	0	4	2	2	2	2	0	5	3	4	3	3	1	4	0	3	1	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:19435024A>G	ENST00000340967.2	+	4	471	c.445A>G	c.(445-447)Atc>Gtc	p.I149V	ACER2_ENST00000380376.1_Missense_Mutation_p.I100V	NM_001010887.2	NP_001010887.2	Q5QJU3	ACER2_HUMAN	alkaline ceramidase 2	149					ceramide metabolic process|negative regulation of cell adhesion mediated by integrin|negative regulation of cell-matrix adhesion|negative regulation of protein glycosylation in Golgi|positive regulation of cell proliferation|response to retinoic acid|sphingosine biosynthetic process	integral to Golgi membrane	ceramidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	13						CATCAACAACATCTCTCTGAT	0.537													G	19435024	A	G	19435024	3	3	599	1	0	0	0	0	1	0	0	0	139	217	8	3	459	3	ACER2	9	19435024	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		19435024	121778407	11	50149											
KCNT1	57582	broad.mit.edu	37	chr9	138676392	138676392	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggccagtccttcgtgaaGgactacatgatcaccatcac	10	9	8	14	1	2	2	2	2	0	0	4	3	3	3	4	2	1	0	4	2	2	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr9:138676392G>A	ENST00000298480.5	+	26	3029	c.2955G>A	c.(2953-2955)aaG>aaA	p.K985K	KCNT1_ENST00000263604.3_Silent_p.K966K|KCNT1_ENST00000371757.2_Silent_p.K985K|KCNT1_ENST00000486577.2_Silent_p.K944K|KCNT1_ENST00000491806.2_Silent_p.K952K|KCNT1_ENST00000487664.1_Silent_p.K940K|KCNT1_ENST00000488444.2_Silent_p.K966K|KCNT1_ENST00000490355.2_Silent_p.K964K			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	985						membrane	binding|calcium-activated potassium channel activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CCTTCGTGAAGGACTACATGA	0.697													A	138676392	G	A	138676392	2	1	599	1	0	0	0	0	0	0	0	1	8149	991	35	2		2	KCNT1	9	138676392	Silent	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	119241368	138676392	2537039	12	50150											
LRIT1	26103	broad.mit.edu	37	chr10	86001154	86001154	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggcctgggggggccaCgcaagggccaagagccagag	8	1	18	14	2	0	2	0	0	0	2	0	2	0	2	6	5	1	1	6	5	2	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:86001154C>T	ENST00000372105.3	-	1	63	c.42G>A	c.(40-42)gcG>gcA	p.A14A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	14						integral to endoplasmic reticulum membrane		p.A14A(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GGGGGGGCCACGCAAGGGCCA	0.672													T	86001154	C	T	86001154	2	4	599	1	0	0	0	0	0	0	0	1	9017	523	19	1		1	LRIT1	10	86001154	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		86001154	49533593	13	50151											
AGAP11	119385	broad.mit.edu	37	chr10	88767686	88767686	+	RNA	DEL	T	T	-																															caaacaacagaaaatgtatcTtttttttttttttttttttg																								rs71019446		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr10:88767686delT	ENST00000444431.1	+	0	2711				RP11-96C23.5_ENST00000433214.2_RNA|RP11-96C23.14_ENST00000444180.3_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										AAAATGTATCttttttttttt	0.413													-	88767686	T	-	88767686	6	5	599	0	1	1	0	1	0	0	0	0	367	1624	56	0		0	AGAP11	10	88767686	RNA	DEL	T	TCGA-HT-A5RB-01A-11D-A289-08	2766532	88767686	46767061	14	50152											
NAT10	55226	broad.mit.edu	37	chr11	34139764	34139764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcttgtaagaagtgtctcGtcattgatgaccagctcaac	10	12	8	11	1	4	3	2	2	2	1	5	3	4	3	2	0	2	2	2	0	3	3			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:34139764G>A	ENST00000257829.3	+	7	801	c.595G>A	c.(595-597)Gtc>Atc	p.V199I	NAT10_ENST00000527971.1_Missense_Mutation_p.V199I|NAT10_ENST00000531159.2_Missense_Mutation_p.V127I	NM_024662.2	NP_078938	Q9H0A0	NAT10_HUMAN	N-acetyltransferase 10 (GCN5-related)	199						nucleolus	ATP binding|N-acetyltransferase activity|protein binding			endometrium(4)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	23		Acute lymphoblastic leukemia(5;0.0119)|all_hematologic(20;0.0231)				GAAGTGTCTCGTCATTGATGA	0.532													A	34139764	G	A	34139764	3	1	599	1	0	0	0	0	1	0	0	0	10250	1145	40	1	617	1	NAT10	11	34139764	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		34139764	100866752	15	50153											
OR5M8	219484	broad.mit.edu	37	chr11	56258374	56258374	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtaggtccacatggtcTccatcaggccagtgagcgct	7	10	13	11	1	2	1	1	1	1	0	4	1	3	1	3	4	1	3	3	4	1	2	rs142719978		TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr11:56258374T>C	ENST00000327216.2	-	1	497	c.473A>G	c.(472-474)gAg>gGg	p.E158G		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	158					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					CCACATGGTCTCCATCAGGCC	0.512													C	56258374	T	C	56258374	3	2	599	1	0	0	0	0	1	0	0	0	11252	1551	54	3	466	3	OR5M8	11	56258374	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	22118610	56258374	78748142	16	50154											
OR11H6	122748	broad.mit.edu	37	chr14	20692401	20692401	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctctgctatccagtccctaTtgttcttatctcccaacttc	6	17	3	15	0	3	0	0	0	3	0	8	0	5	0	3	0	2	2	3	0	4	6			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr14:20692401T>C	ENST00000315519.2	+	1	611	c.533T>C	c.(532-534)aTt>aCt	p.I178T		NM_001004480.1	NP_001004480.1	Q8NGC7	O11H6_HUMAN	olfactory receptor, family 11, subfamily H, member 6	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(13)|ovary(2)|prostate(1)|skin(2)	29	all_cancers(95;0.00108)		Epithelial(56;1.75e-06)|all cancers(55;1.22e-05)	GBM - Glioblastoma multiforme(265;0.0143)		CCAGTCCCTATTGTTCTTATC	0.502													C	20692401	T	C	20692401	3	2	599	1	0	0	0	0	1	0	0	0	11005	1493	52	3	535	3	OR11H6	14	20692401	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		20692401	86657139	17	50155											
NIPA1	123606	broad.mit.edu	37	chr15	23086365	23086367	+	In_Frame_Del	DEL	GCC	GCC	-																															ggctacgcgccccctccccgGccgccgccgccgccgccgcc																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:23086365_23086367delGCC	ENST00000337435.4	-	1	69_71	c.45_47delGGC	c.(43-48)gcggcc>gcc	p.15_16AA>A	NIPA1_ENST00000437912.2_Intron|NIPA1_ENST00000561183.1_Intron	NM_001142275.1|NM_144599.4	NP_001135747.1|NP_653200.2	Q7RTP0	NIPA1_HUMAN	non imprinted in Prader-Willi/Angelman syndrome 1	15					cell death	early endosome|integral to membrane|plasma membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(9)|skin(1)	15		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;4.18e-06)|Epithelial(43;3.97e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00165)		CCCCTCCCCGgccgccgccgccg	0.818													-	23086367	GCC	-	23086365	7	5	599	1	0	1	0	1	0	0	0	0	10498	1203	42	0	962	0	NIPA1	15	23086365	In_Frame_Del	DEL	GCC	TCGA-HT-A5RB-01A-11D-A289-08		23086365	79445027	18	50156											
TMC3	342125	broad.mit.edu	37	chr15	81641895	81641895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcatggtgacgagggagAccaccacactgacctgctga	11	7	11	12	1	1	4	1	3	0	1	1	6	1	4	3	2	1	1	3	2	1	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr15:81641895A>G	ENST00000558726.1	-	11	1235	c.1100T>C	c.(1099-1101)gTc>gCc	p.V367A	RP11-761I4.3_ENST00000559781.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.V366A			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	366						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GACGAGGGAGACCACCACACT	0.552													G	81641895	A	G	81641895	3	3	599	1	0	0	0	0	1	0	0	0	16086	275	10	3	2253	3	TMC3	15	81641895	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08	58555530	81641895	20889497	19	50157											
TP53	7157	broad.mit.edu	37	chr17	7578235	7578235	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagtgtttctgtcatccaaaTactccacacgcaaatttcct	12	13	4	12	1	2	0	1	0	1	0	5	0	5	0	3	0	1	2	3	0	4	3			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:7578235T>G	ENST00000420246.2	-	6	746	c.614A>C	c.(613-615)tAt>tCt	p.Y205S	TP53_ENST00000445888.2_Missense_Mutation_p.Y205S|TP53_ENST00000359597.4_Missense_Mutation_p.Y205S|TP53_ENST00000455263.2_Missense_Mutation_p.Y205S|TP53_ENST00000413465.2_Missense_Mutation_p.Y205S|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y205S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	205	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Y -> C (in sporadic cancers; somatic mutation).|Y -> D (in sporadic cancers; somatic mutation).|Y -> F (in sporadic cancers; somatic mutation).|Y -> H (in sporadic cancers; somatic mutation).|Y -> N (in sporadic cancers; somatic mutation).|Y -> S (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.Y205C(68)|p.Y205S(14)|p.Y205F(8)|p.0?(8)|p.Y112C(5)|p.?(5)|p.Y73C(5)|p.Y73S(1)|p.Y112S(1)|p.E204fs*39(1)|p.E204_N210delEYLDDRN(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)		GTCATCCAAATACTCCACACG	0.542		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)			G	7578235	T	G	7578235	3	3	599	1	0	0	0	0	1	0	0	0	16482	1406	49	5	680	5	TP53	17	7578235	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		7578235	73616975	20	50158											
RAI1	10743	broad.mit.edu	37	chr17	17699246	17699246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaagagcctgtgccacgggGcaaaagcttacggagccgtc	11	5	14	11	3	0	1	0	0	0	1	1	3	0	2	3	3	5	2	3	3	4	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr17:17699246G>A	ENST00000353383.1	+	3	3453	c.2984G>A	c.(2983-2985)gGc>gAc	p.G995D	RAI1_ENST00000261641.6_Missense_Mutation_p.G995D	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	995						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GTGCCACGGGGCAAAAGCTTA	0.662													A	17699246	G	A	17699246	3	1	599	1	0	0	0	0	1	0	0	0	13095	1203	42	2	2986	2	RAI1	17	17699246	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08	10121011	17699246	63495964	21	50159											
DSG2	1829	broad.mit.edu	37	chr18	29121270	29121270	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgaaggagcaccacctgAagacaaggtcagtggatcag	15	6	12	8	0	2	3	2	2	0	1	2	5	2	5	2	3	1	1	2	3	4	1			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr18:29121270A>G	ENST00000261590.8	+	13	2203	c.1994A>G	c.(1993-1995)gAa>gGa	p.E665G		NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	665					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			GCACCACCTGAAGACAAGGTC	0.473													G	29121270	A	G	29121270	3	3	599	1	0	0	0	0	1	0	0	0	4816	246	9	3	2044	3	DSG2	18	29121270	Missense_Mutation	SNP	A	TCGA-HT-A5RB-01A-11D-A289-08		29121270	48955978	22	50160											
MUC16	94025	broad.mit.edu	37	chr19	9088746	9088746	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccattcgtggtctctgtTgtgaggatggttgttgatgg	4	15	17	5	1	1	2	0	2	1	0	3	3	1	3	1	5	0	3	1	5	0	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:9088746T>C	ENST00000397910.4	-	1	3272	c.3069A>G	c.(3067-3069)acA>acG	p.T1023T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1023	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						TGGTCTCTGTTGTGAGGATGG	0.468													C	9088746	T	C	9088746	2	2	599	1	0	0	0	0	0	0	0	1	10049	1799	63	3		3	MUC16	19	9088746	Silent	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08		9088746	50040237	23	50161											
MAP3K10	4294	broad.mit.edu	37	chr19	40719044	40719044	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcccccaacctgggcaagTcccccaaacacacacccatc	11	4	6	20	0	0	0	0	0	0	0	2	0	1	0	6	1	3	1	6	1	3	0			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:40719044T>C	ENST00000253055.3	+	8	2074	c.1786T>C	c.(1786-1788)Tcc>Ccc	p.S596P		NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	596					activation of JUN kinase activity|induction of apoptosis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of JNK cascade|protein autophosphorylation|smoothened signaling pathway	cytoplasm	ATP binding|bHLH transcription factor binding|JUN kinase kinase kinase activity|protein homodimerization activity|transcription corepressor activity			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CCTGGGCAAGTCCCCCAAACA	0.612													C	40719044	T	C	40719044	3	2	599	1	0	0	0	0	1	0	0	0	9319	1667	58	3	1816	3	MAP3K10	19	40719044	Missense_Mutation	SNP	T	TCGA-HT-A5RB-01A-11D-A289-08	31630298	40719044	18409939	24	50162											
ZNF616	90317	broad.mit.edu	37	chr19	52618795	52618795	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcttctctccagtatgaattCtccgatgccttgcaaaagct	9	13	7	12	1	2	1	0	1	2	0	5	2	3	1	3	0	3	4	3	0	4	4			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr19:52618795C>G	ENST00000600228.1	-	4	1883	c.1622G>C	c.(1621-1623)aGa>aCa	p.R541T	ZNF616_ENST00000330123.5_3'UTR	NM_178523.3	NP_848618.2	Q08AN1	ZN616_HUMAN	zinc finger protein 616	541					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	48				GBM - Glioblastoma multiforme(134;0.00392)|OV - Ovarian serous cystadenocarcinoma(262;0.0189)		AGTATGAATTCTCCGATGCCT	0.443													G	52618795	C	G	52618795	3	3	599	1	0	0	0	0	1	0	0	0	18142	913	32	4	727	4	ZNF616	19	52618795	Missense_Mutation	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08	11899751	52618795	6510188	25	50163											
FAM3B	54097	broad.mit.edu	37	chr21	42710402	42710402	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaggtggcagaagcaagtaCgccaaaatctgctttgagga	13	7	14	7	1	1	2	0	1	1	1	1	4	1	4	1	4	3	4	1	4	5	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chr21:42710402C>T	ENST00000398652.3	+	4	444	c.378C>T	c.(376-378)taC>taT	p.Y126Y	FAM3B_ENST00000398647.3_Silent_p.Y39Y|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398646.3_Silent_p.Y110Y|FAM3B_ENST00000357985.2_Silent_p.Y87Y			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	87					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				GAAGCAAGTACGCCAAAATCT	0.502													T	42710402	C	T	42710402	2	4	599	1	0	0	0	0	0	0	0	1	5608	547	19	1		1	FAM3B	21	42710402	Silent	SNP	C	TCGA-HT-A5RB-01A-11D-A289-08		42710402	5419493	26	50164											
CSF2RA	1438	broad.mit.edu	37	chrX	1413343	1413343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttcagtaccagctggacGtccacagaaaggtcggtgag	11	8	12	10	2	1	2	1	1	0	1	3	3	2	3	2	3	2	2	2	3	2	2			TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:1413343G>A	ENST00000381524.3	+	8	955	c.769G>A	c.(769-771)Gtc>Atc	p.V257I	CSF2RA_ENST00000381509.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V124I|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V257I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000498153.1_3'UTR|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V257I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V257I|CSF2RA_ENST00000381529.3_Missense_Mutation_p.V257I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	257						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCAGCTGGACGTCCACAGAAA	0.632													A	1413343	G	A	1413343	3	1	599	1	0	0	0	0	1	0	0	0	3967	1145	40	1	791	1	CSF2RA	23	1413343	Missense_Mutation	SNP	G	TCGA-HT-A5RB-01A-11D-A289-08		1413343	153857217	27	50165											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-HT-A5RB-01A-11D-A289-08	TCGA-HT-A5RB-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	badfd81e-213a-4a00-b2a6-d3fc0ec351cf	abe3f148-9638-4601-9848-f309142fed65	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814306	ATAA	-	76814303	7	5	599	1	0	1	0	1	0	0	0	0	1213	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-HT-A5RB-01A-11D-A289-08	75400960	76814303	78456257	28	50166											
PRAMEF1	65121	broad.mit.edu	37	chr1	12856042	12856042	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgagctgatgtgtacacTgagggaagtcaggcagccca	10	7	15	9	0	1	3	1	3	0	0	1	4	1	4	1	3	3	4	1	3	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:12856042T>A	ENST00000332296.7	+	4	1425	c.1322T>A	c.(1321-1323)cTg>cAg	p.L441Q	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.L196Q	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	441										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ATGTGTACACTGAGGGAAGTC	0.562													A	12856042	T	A	12856042	3	1	600	1	0	0	0	0	1	0	0	0	12507	1580	55	5	1332	5	PRAMEF1	1	12856042	Missense_Mutation	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08		12856042	236394579	1	50167											
LUZP1	7798	broad.mit.edu	37	chr1	23418835	23418835	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgacacctcaaggcttcatgCggactgctgtcttccatcac	8	10	8	15	2	4	0	3	0	1	0	5	2	5	1	2	2	2	2	2	2	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:23418835C>T	ENST00000302291.4	-	4	2721	c.1920G>A	c.(1918-1920)ccG>ccA	p.P640P	LUZP1_ENST00000418342.1_Silent_p.P640P|LUZP1_ENST00000374623.3_Silent_p.P640P|LUZP1_ENST00000314174.5_Silent_p.P640P			Q86V48	LUZP1_HUMAN	leucine zipper protein 1	640						nucleus		p.P640P(2)		NS(1)|breast(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(2)	31		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Ovarian(437;0.00373)|Breast(348;0.00815)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;4.88e-27)|Colorectal(126;8.36e-08)|COAD - Colon adenocarcinoma(152;4.31e-06)|GBM - Glioblastoma multiforme(114;8.64e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00112)|KIRC - Kidney renal clear cell carcinoma(1967;0.00176)|STAD - Stomach adenocarcinoma(196;0.0146)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.0967)|LUSC - Lung squamous cell carcinoma(448;0.199)		AGGCTTCATGCGGACTGCTGT	0.468													T	23418835	C	T	23418835	2	4	600	1	0	0	0	0	0	0	0	1	9156	755	27	1		1	LUZP1	1	23418835	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10562793	23418835	225831786	2	50168											
CSMD2	114784	broad.mit.edu	37	chr1	34258115	34258115	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatcaaactcctcaaaggCgagcttgatcacctagggag	14	7	9	11	1	3	1	3	1	0	0	4	3	4	2	2	2	2	1	2	2	4	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:34258115C>T	ENST00000373381.4	-	11	1635	c.1459G>A	c.(1459-1461)Gcc>Acc	p.A487T	CSMD2_ENST00000338325.1_Missense_Mutation_p.A95T	NM_001281956.1|NM_052896.3	NP_001268885.1|NP_443128.2	Q7Z408	CSMD2_HUMAN	CUB and Sushi multiple domains 2	447	CUB 3.					integral to membrane|plasma membrane	protein binding			NS(5)|breast(5)|central_nervous_system(3)|cervix(2)|endometrium(20)|haematopoietic_and_lymphoid_tissue(4)|kidney(9)|large_intestine(43)|lung(114)|ovary(8)|pancreas(1)|prostate(6)|skin(20)|upper_aerodigestive_tract(5)|urinary_tract(1)	246		Myeloproliferative disorder(586;0.0294)|all_neural(195;0.249)				TCCTCAAAGGCGAGCTTGATC	0.532													T	34258115	C	T	34258115	3	4	600	1	0	0	0	0	1	0	0	0	3978	768	27	1	9360	1	CSMD2	1	34258115	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10839280	34258115	214992506	3	50169											
CCDC30	728621	broad.mit.edu	37	chr1	43110444	43110444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagattggcttcttagagcGaattataaggagcatccata	13	11	10	7	1	1	2	0	0	1	2	2	4	2	3	1	2	2	3	1	2	5	6			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:43110444G>A	ENST00000428554.2	+	20	2999	c.1856G>A	c.(1855-1857)cGa>cAa	p.R619Q	CCDC30_ENST00000507855.1_Missense_Mutation_p.R408Q|CCDC30_ENST00000390640.4_Missense_Mutation_p.R408Q|CCDC30_ENST00000340612.4_Missense_Mutation_p.R619Q|CCDC30_ENST00000342022.4_Missense_Mutation_p.R619Q			Q5VVM6	CCD30_HUMAN	coiled-coil domain containing 30	619										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	30						TTCTTAGAGCGAATTATAAGG	0.428													A	43110444	G	A	43110444	3	1	600	1	0	0	0	0	1	0	0	0	2832	1058	37	1	1902	1	CCDC30	1	43110444	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8852329	43110444	206140177	4	50170											
GPBP1L1	60313	broad.mit.edu	37	chr1	46120391	46120391	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcatgccatcatgacctcGggaagagctatgccaaccag	11	7	10	13	1	2	2	2	1	0	1	3	3	2	3	4	1	4	2	4	1	3	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:46120391G>A	ENST00000355105.3	-	6	1661	c.301C>T	c.(301-303)Cga>Tga	p.R101*	GPBP1L1_ENST00000290795.3_Nonsense_Mutation_p.R101*	NM_021639.4	NP_067652.1	Q9HC44	GPBL1_HUMAN	GC-rich promoter binding protein 1-like 1	101					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding		GPBP1L1/MAST2_ENST00000361297(2)	breast(1)|endometrium(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|stomach(1)	21	Acute lymphoblastic leukemia(166;0.155)					TCATGACCTCGGGAAGAGCTA	0.557													A	46120391	G	A	46120391	4	1	600	1	0	0	0	0	0	1	0	0	6650	1124	39	1	1155	1	GPBP1L1	1	46120391	Nonsense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3009947	46120391	203130230	5	50171											
C1orf173	127254	broad.mit.edu	37	chr1	75038487	75038487	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaagaattgcctcttcagaAccgtcctctctctttgatgc	8	13	6	14	1	4	3	1	1	3	2	6	3	5	3	4	0	3	0	4	0	3	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:75038487A>C	ENST00000326665.5	-	14	3125	c.2907T>G	c.(2905-2907)ggT>ggG	p.G969G	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	969	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CCTCTTCAGAACCGTCCTCTC	0.522													C	75038487	A	C	75038487	2	2	600	1	0	0	0	0	0	0	0	1	2034	30	2	5		5	C1orf173	1	75038487	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	28918096	75038487	174212134	6	50172											
ELTD1	64123	broad.mit.edu	37	chr1	79470885	79470885	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttttgagtataggaacaattCaacaaagtggaaaaaaccac	19	9	7	6	0	1	1	1	1	0	0	1	3	1	3	1	2	3	1	1	2	9	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:79470885C>T	ENST00000370742.3	-	2	105	c.42G>A	c.(40-42)ttG>ttA	p.L14L		NM_022159.3	NP_071442.2	Q9HBW9	ELTD1_HUMAN	EGF, latrophilin and seven transmembrane domain containing 1	14					neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(45)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	69				COAD - Colon adenocarcinoma(225;0.0905)|Colorectal(170;0.103)|all cancers(265;0.105)|Epithelial(280;0.148)		AGGAACAATTCAACAAAGTGG	0.333													T	79470885	C	T	79470885	2	4	600	1	0	0	0	0	0	0	0	1	5125	825	29	2		2	ELTD1	1	79470885	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4432398	79470885	169779736	7	50173											
OTUD7B	56957	broad.mit.edu	37	chr1	149916850	149916850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctccttccgccggccgccctCgttgctggtggaactgctgc	2	10	12	17	4	0	0	0	0	0	0	3	1	2	1	5	3	4	3	5	3	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:149916850C>T	ENST00000369135.4	-	12	1732	c.1438G>A	c.(1438-1440)Gag>Aag	p.E480K		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B						negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			CGGCCGCCCTCGTTGCTGGTG	0.582													T	149916850	C	T	149916850	3	4	600	1	0	0	0	0	1	0	0	0	11395	893	31	1	1097	1	OTUD7B	1	149916850	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	70445965	149916850	99333771	8	50174											
FLG	2312	broad.mit.edu	37	chr1	152282387	152282387	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgtccaccagaggaagtctCtgcatgacgagtgcctgatt	9	10	11	11	1	1	3	0	2	1	1	3	5	2	4	3	1	2	1	3	1	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:152282387C>T	ENST00000368799.1	-	3	5010	c.4975G>A	c.(4975-4977)Gag>Aag	p.E1659K	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1659	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GAGGAAGTCTCTGCATGACGA	0.562									Ichthyosis				T	152282387	C	T	152282387	3	4	600	1	0	0	0	0	1	0	0	0	5971	922	32	2	7214	2	FLG	1	152282387	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	2365537	152282387	96968234	9	50175											
OBSCN	84033	broad.mit.edu	37	chr1	228548163	228548163	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcatgcactgggtcccCgaggccctctcggcctcttt	3	10	13	15	2	2	0	0	0	2	0	4	1	3	0	4	5	1	2	4	5	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr1:228548163C>T	ENST00000284548.11	+	81	19644	c.19570C>T	c.(19570-19572)Cga>Tga	p.R6524*	OBSCN_ENST00000366707.4_Intron|OBSCN_ENST00000570156.2_Intron|OBSCN_ENST00000366709.4_Nonsense_Mutation_p.R3643*|OBSCN_ENST00000422127.1_Intron	NM_052843.3	NP_443075.3	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7545	Protein kinase 1.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				ACTGGGTCCCCGAGGCCCTCT	0.687													T	228548163	C	T	228548163	4	4	600	1	0	0	0	0	0	1	0	0	10888	644	23	1	19888	1	OBSCN	1	228548163	Nonsense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	76265776	228548163	20702458	10	50176											
HADHA	3030	broad.mit.edu	37	chr2	26457128	26457128	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccattgatggcagccacaAtaggctttgtggacttttca	10	13	9	9	0	1	1	1	1	0	0	2	2	2	2	2	3	1	2	2	3	2	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:26457128A>G	ENST00000380649.3	-	5	539	c.410T>C	c.(409-411)aTt>aCt	p.I137T	HADHA_ENST00000457468.2_Missense_Mutation_p.I50T|HADHA_ENST00000461025.1_5'UTR	NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	137					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	GGCAGCCACAATAGGCTTTGT	0.443													G	26457128	A	G	26457128	3	3	600	1	0	0	0	0	1	0	0	0	6998	101	4	3	1945	3	HADHA	2	26457128	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		26457128	216742245	11	50177											
MYEOV2	150678	broad.mit.edu	37	chr2	241073371	241073371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttaaaaaagtctgcatgaaCggccttttcattggctgcca	11	12	9	9	1	2	1	1	1	1	0	2	1	2	1	2	2	3	3	2	2	4	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr2:241073371C>T	ENST00000307266.3	-	2	207	c.208G>A	c.(208-210)Gtt>Att	p.V70I	MYEOV2_ENST00000607357.1_Missense_Mutation_p.V39I|MYEOV2_ENST00000489698.1_5'UTR	NM_138336.1	NP_612209.1	Q8WXC6	MYOV2_HUMAN	myeloma overexpressed 2	39								p.V70F(1)		breast(1)|lung(5)|pancreas(1)	7		all_epithelial(40;1.56e-11)|Breast(86;0.0002)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.81e-30)|all cancers(36;1.1e-27)|OV - Ovarian serous cystadenocarcinoma(60;2.74e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.54e-06)|Lung(119;0.00361)|LUSC - Lung squamous cell carcinoma(224;0.0153)|Colorectal(34;0.0202)|COAD - Colon adenocarcinoma(134;0.143)		TCTGCATGAACGGCCTTTTCA	0.483													T	241073371	C	T	241073371	3	4	600	1	0	0	0	0	1	0	0	0	10102	536	19	1	570	1	MYEOV2	2	241073371	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	214616243	241073371	2126002	12	50178											
LMCD1	29995	broad.mit.edu	37	chr3	8590552	8590552	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaccactgctgctaccaccaAcggcagtctcagtgacccgt	9	7	9	16	2	1	1	1	1	1	0	2	2	1	1	4	1	4	3	4	1	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:8590552A>G	ENST00000157600.3	+	4	918	c.686A>G	c.(685-687)aAc>aGc	p.N229S	LMCD1-AS1_ENST00000439407.1_RNA|LMCD1_ENST00000454244.1_Missense_Mutation_p.N156S|LMCD1_ENST00000535732.1_Missense_Mutation_p.N229S|LMCD1_ENST00000397386.3_Missense_Mutation_p.N117S	NM_014583.2	NP_055398.1	Q9NZU5	LMCD1_HUMAN	LIM and cysteine-rich domains 1	229					positive regulation of calcineurin-NFAT signaling pathway|regulation of cardiac muscle hypertrophy|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus	transcription corepressor activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)	16				OV - Ovarian serous cystadenocarcinoma(96;0.124)		GCTACCACCAACGGCAGTCTC	0.612													G	8590552	A	G	8590552	3	3	600	1	0	0	0	0	1	0	0	0	8905	43	2	3	700	3	LMCD1	3	8590552	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08		8590552	189431878	13	50179											
SCN5A	6331	broad.mit.edu	37	chr3	38674720	38674720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgcttctctgccatgcGcttctcgatggctgccaggg	3	12	13	13	2	2	0	0	0	2	0	4	1	2	0	2	3	4	4	2	3	0	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:38674720G>A	ENST00000413689.1	-	2	272	c.79C>T	c.(79-81)Cgc>Tgc	p.R27C	SCN5A_ENST00000414099.2_Missense_Mutation_p.R27C|SCN5A_ENST00000425664.1_Missense_Mutation_p.R27C|SCN5A_ENST00000333535.4_Missense_Mutation_p.R27C|SCN5A_ENST00000451551.2_Missense_Mutation_p.R27C|SCN5A_ENST00000455624.2_Missense_Mutation_p.R27C|SCN5A_ENST00000423572.2_Missense_Mutation_p.R27C|SCN5A_ENST00000449557.2_Missense_Mutation_p.R27C|SCN5A_ENST00000443581.1_Missense_Mutation_p.R27C|SCN5A_ENST00000450102.2_Missense_Mutation_p.R27C	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	27			R -> H (in BRS1).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	TCTGCCATGCGCTTCTCGATG	0.647													A	38674720	G	A	38674720	3	1	600	1	0	0	0	0	1	0	0	0	14015	1087	38	1	6175	1	SCN5A	3	38674720	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	30084168	38674720	159347710	14	50180											
COL7A1	1294	broad.mit.edu	37	chr3	48629342	48629342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcactgaccagtctcacgcCgccattccaaccggtagcca	9	6	8	18	4	1	1	1	1	1	0	3	1	2	1	6	1	2	2	6	1	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:48629342C>T	ENST00000328333.8	-	10	1453	c.1346G>A	c.(1345-1347)cGg>cAg	p.R449Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R449Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	449	Fibronectin type-III 3.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGTCTCACGCCGCCATTCCAA	0.632													T	48629342	C	T	48629342	3	4	600	1	0	0	0	0	1	0	0	0	3735	652	23	1	7924	1	COL7A1	3	48629342	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	9954622	48629342	149393088	15	50181											
ITIH1	3697	broad.mit.edu	37	chr3	52824844	52824844	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttgaggttgttttgcacCgagtgtggaaggggagctcg	6	12	16	7	2	0	1	0	1	0	0	1	4	0	3	2	4	2	4	2	4	1	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:52824844C>T	ENST00000273283.2	+	20	2425	c.2401C>T	c.(2401-2403)Cga>Tga	p.R801*	ITIH1_ENST00000405128.3_Nonsense_Mutation_p.R167*|ITIH1_ENST00000537050.1_Nonsense_Mutation_p.R513*|ITIH1_ENST00000542827.1_3'UTR|ITIH1_ENST00000540715.1_Nonsense_Mutation_p.R659*	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	801	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		TGTTTTGCACCGAGTGTGGAA	0.612													T	52824844	C	T	52824844	4	4	600	1	0	0	0	0	0	1	0	0	7961	644	23	1	2479	1	ITIH1	3	52824844	Nonsense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	4195502	52824844	145197586	16	50182											
STXBP5L	9515	broad.mit.edu	37	chr3	121097685	121097685	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaagaccaccatttcgaaagGcccagtcagcagcctgcatg	12	6	10	13	1	1	1	1	0	0	1	2	3	1	1	4	1	3	2	4	1	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:121097685G>T	ENST00000273666.6	+	22	2642	c.2371G>T	c.(2371-2373)Gcc>Tcc	p.A791S	STXBP5L_ENST00000471454.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000497029.1_Intron|STXBP5L_ENST00000472879.1_Missense_Mutation_p.A767S|STXBP5L_ENST00000492541.1_Missense_Mutation_p.A791S	NM_014980.2	NP_055795.1	Q9Y2K9	STB5L_HUMAN	syntaxin binding protein 5-like	791					exocytosis|protein transport	cytoplasm|integral to membrane|plasma membrane				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(12)|lung(28)|ovary(7)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				GBM - Glioblastoma multiforme(114;0.0694)		ATTTCGAAAGGCCCAGTCAGC	0.388													T	121097685	G	T	121097685	3	4	600	1	0	0	0	0	1	0	0	0	15453	1203	42	4	2453	4	STXBP5L	3	121097685	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	68272841	121097685	76924745	17	50183											
MFI2	4241	broad.mit.edu	37	chr3	196730813	196730813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacatcccttccagcgccGccacgtagtccagccccagc	8	5	8	20	4	0	0	0	0	0	0	3	1	3	0	7	0	3	1	7	0	1	2	rs143354088		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr3:196730813G>A	ENST00000296350.5	-	15	2209	c.2096C>T	c.(2095-2097)gCg>gTg	p.A699V	MFI2-AS1_ENST00000415244.1_RNA|MFI2-AS1_ENST00000424769.1_RNA|MFI2-AS1_ENST00000414354.1_RNA|MFI2-AS1_ENST00000437064.1_RNA	NM_005929.5	NP_005920.2	P08582	TRFM_HUMAN	antigen p97 (melanoma associated) identified by monoclonal antibodies 133.2 and 96.5	699	Transferrin-like 2.				cellular iron ion homeostasis|iron ion transport	anchored to membrane|extracellular region|integral to plasma membrane	ferric iron binding|protein binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(1)	20	all_cancers(143;3.95e-09)|Ovarian(172;0.0634)|Breast(254;0.0838)		Epithelial(36;4.55e-24)|all cancers(36;2.87e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00536)		TTCCAGCGCCGCCACGTAGTC	0.647													A	196730813	G	A	196730813	3	1	600	1	0	0	0	0	1	0	0	0	9597	1087	38	1	128	1	MFI2	3	196730813	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	75633128	196730813	1291617	18	50184											
UGT2B7	7364	broad.mit.edu	37	chr4	69972927	69972927	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatgggaataaaccagataCcttaggtctcaatactcggc	13	10	9	9	1	1	2	1	1	1	1	3	3	1	3	2	3	3	0	2	3	7	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:69972927C>A	ENST00000305231.7	+	4	1083	c.1037C>A	c.(1036-1038)aCc>aAc	p.T346N	UGT2B7_ENST00000509763.1_3'UTR|UGT2B7_ENST00000508661.1_Missense_Mutation_p.T346N	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	346					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						AAACCAGATACCTTAGGTCTC	0.358													A	69972927	C	A	69972927	3	1	600	1	0	0	0	0	1	0	0	0	17064	507	18	4	1051	4	UGT2B7	4	69972927	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		69972927	121181349	19	50185											
BMP3	651	broad.mit.edu	37	chr4	81967784	81967784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattattgctctggagcatgCcagttccccatgccaaaggt	9	12	9	11	0	1	0	0	0	1	0	2	1	2	1	4	2	4	3	4	2	3	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr4:81967784C>T	ENST00000282701.2	+	2	1529	c.1209C>T	c.(1207-1209)tgC>tgT	p.C403C		NM_001201.2	NP_001192.2	P12645	BMP3_HUMAN	bone morphogenetic protein 3	403					cartilage development|cell differentiation|cell-cell signaling|growth|ossification	extracellular space	BMP receptor binding|cytokine activity|growth factor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	29						CTGGAGCATGCCAGTTCCCCA	0.448													T	81967784	C	T	81967784	2	4	600	1	0	0	0	0	0	0	0	1	1467	747	26	2		2	BMP3	4	81967784	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	11994857	81967784	109186492	20	50186											
PRDM9	56979	broad.mit.edu	37	chr5	23509638	23509638	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaagaatgggcagagatGggagactgggagaaaactcg	16	4	17	4	1	0	4	0	0	0	4	1	8	0	5	0	4	1	1	0	4	5	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:23509638G>T	ENST00000296682.3	+	3	311	c.129G>T	c.(127-129)atG>atT	p.M43I		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	43	KRAB-related.				meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						GGGCAGAGATGGGAGACTGGG	0.433										HNSCC(3;0.000094)			T	23509638	G	T	23509638	3	4	600	1	0	0	0	0	1	0	0	0	12549	1348	47	4	135	4	PRDM9	5	23509638	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		23509638	157405622	21	50187											
MTMR12	54545	broad.mit.edu	37	chr5	32235068	32235068	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcctaagagggactcttacCatgttagtatctttttgatg	9	17	8	7	0	2	2	0	1	2	1	3	3	3	3	2	1	1	2	2	1	4	7			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:32235068C>T	ENST00000382142.3	-	14	1682	c.1512G>A	c.(1510-1512)atG>atA	p.M504I	MTMR12_ENST00000264934.5_Intron|MTMR12_ENST00000280285.5_Splice_Site_p.M504I	NM_001040446.1	NP_001035536.1	Q9C0I1	MTMRC_HUMAN	myotubularin related protein 12	504	Interaction with MTM1.|Myotubularin phosphatase.					cytoplasm	phosphatase activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						GGACTCTTACCATGTTAGTAT	0.378													T	32235068	C	T	32235068	5	4	600	1	0	0	0	0	0	0	1	0	10017	608	21	2	743	2	MTMR12	5	32235068	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	8725430	32235068	148680192	22	50188											
ABLIM3	22885	broad.mit.edu	37	chr5	148622095	148622095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaacccccgatctacaaaCggcatggtatggtcagaggt	12	7	12	10	2	2	1	1	0	1	1	2	3	2	2	2	5	3	2	2	5	4	2	rs139404389	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:148622095C>T	ENST00000506113.1	+	14	1827	c.1345C>T	c.(1345-1347)Cgg>Tgg	p.R449W	ABLIM3_ENST00000326685.7_Missense_Mutation_p.R354W|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R449W|RP11-331K21.1_ENST00000512647.2_RNA|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R416W|ABLIM3_ENST00000504238.1_Intron|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	449					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCTACAAACGGCATGGTAT	0.572													T	148622095	C	T	148622095	3	4	600	1	0	0	0	0	1	0	0	0	96	527	19	1	1399	1	ABLIM3	5	148622095	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	116387027	148622095	32293165	23	50189											
ATP10B	23120	broad.mit.edu	37	chr5	160039781	160039781	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggtataaacagtgtcGgtctgatttaacagtctgca	11	14	10	6	1	2	2	0	2	2	0	3	2	2	2	0	2	3	2	0	2	4	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr5:160039781G>A	ENST00000327245.5	-	18	3651	c.2805C>T	c.(2803-2805)acC>acT	p.T935T		NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	935					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAACAGTGTCGGTCTGATTTA	0.493													A	160039781	G	A	160039781	2	1	600	1	0	0	0	0	0	0	0	1	1122	1103	39	1		1	ATP10B	5	160039781	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11417686	160039781	20875479	24	50190											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	6	6	9	20	4	2	0	2	0	1	0	4	0	3	0	6	3	1	0	6	3	1	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:7229901G>C	ENST00000379938.2	+	10	2106	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687													C	7229901	G	C	7229901	2	2	600	1	0	0	0	0	0	0	0	1	13770	1074	38	4		4	RREB1	6	7229901	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7229901	163885166	25	50191											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	600	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-HT-A5RC-01A-11D-A289-08	24709928	31939829	139175238	26	50192											
EGFL8	80864	broad.mit.edu	37	chr6	32135153	32135153	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggcggaaaaagatgagcgcGctctgaagcaggagattcac	14	5	14	8	3	2	4	1	2	1	2	2	6	2	5	0	3	2	2	0	3	3	1	rs149576421		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:32135153G>T	ENST00000395512.1	+	7	733	c.628G>T	c.(628-630)Gct>Tct	p.A210S	PPT2-EGFL8_ENST00000422437.1_3'UTR|EGFL8_ENST00000333845.6_Missense_Mutation_p.A210S			Q99944	EGFL8_HUMAN	EGF-like-domain, multiple 8	210						extracellular region|integral to membrane	calcium ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|urinary_tract(1)	10						AGATGAGCGCGCTCTGAAGCA	0.652													T	32135153	G	T	32135153	3	4	600	1	0	0	0	0	1	0	0	0	5004	1087	38	4	650	4	EGFL8	6	32135153	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	195324	32135153	138979914	27	50193											
PPP2R5D	5528	broad.mit.edu	37	chr6	42975186	42975186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttcttacgtttccttgagtCtcctgatttccagccaaaca	8	15	5	13	1	2	2	0	2	2	0	5	2	4	2	4	0	3	1	4	0	2	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:42975186C>T	ENST00000485511.1	+	6	847	c.668C>T	c.(667-669)tCt>tTt	p.S223F	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.S191F|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.S215F|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.S117F	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	223					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TTCCTTGAGTCTCCTGATTTC	0.512													T	42975186	C	T	42975186	3	4	600	1	0	0	0	0	1	0	0	0	12477	913	32	2	690	2	PPP2R5D	6	42975186	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	10840033	42975186	128139881	28	50194											
MEP1A	4224	broad.mit.edu	37	chr6	46800871	46800871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaagaggaacagaagtttcGctaccttttccagggcacaa	14	8	9	10	1	0	2	0	0	0	2	2	3	1	3	2	2	2	3	2	2	5	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:46800871G>A	ENST00000230588.4	+	11	1214	c.1205G>A	c.(1204-1206)cGc>cAc	p.R402H		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	402	MAM.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	p.R402H(1)		NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			CAGAAGTTTCGCTACCTTTTC	0.507													A	46800871	G	A	46800871	3	1	600	1	0	0	0	0	1	0	0	0	9550	1087	38	1	1247	1	MEP1A	6	46800871	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	3825685	46800871	124314196	29	50195											
EEF1A1	1915	broad.mit.edu	37	chr6	74228912	74228914	+	In_Frame_Del	DEL	CAC	CAC	-																															ggagataccagcttcaaattCaccaacaccagcagcaacaa																										TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:74228912_74228914delCAC	ENST00000316292.9	-	3	1353_1355	c.362_364delGTG	c.(361-366)ggtgaa>gaa	p.G121del	EEF1A1_ENST00000491404.1_5'UTR|EEF1A1_ENST00000331523.2_In_Frame_Del_p.G121del|EEF1A1_ENST00000309268.6_In_Frame_Del_p.G121del	NM_001402.5	NP_001393.1	P68104	EF1A1_HUMAN	eukaryotic translation elongation factor 1 alpha 1	121						cytosol|eukaryotic translation elongation factor 1 complex	GTP binding|GTPase activity|protein binding|translation elongation factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(6)|prostate(2)|skin(3)	18						GCTTCAAATTCACCAACACCAGC	0.448											OREG0003891	type=REGULATORY REGION|Gene=EEF1A1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	-	74228914	CAC	-	74228912	7	5	600	1	0	1	0	1	0	0	0	0	4962	835	29	0	1044	0	EEF1A1	6	74228912	In_Frame_Del	DEL	CAC	TCGA-HT-A5RC-01A-11D-A289-08	27428041	74228912	96886155	30	50196											
TIAM2	26230	broad.mit.edu	37	chr6	155578065	155578065	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgccccattaaacgaaaagCcaacagcaccaagagggaca	17	3	8	13	1	0	1	0	0	0	1	0	3	0	2	4	1	5	1	4	1	6	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr6:155578065C>G	ENST00000461783.3	+	29	6189	c.4916C>G	c.(4915-4917)gCc>gGc	p.A1639G	TIAM2_ENST00000456144.1_Missense_Mutation_p.A1668G|TIAM2_ENST00000360366.4_Missense_Mutation_p.A1663G|TIAM2_ENST00000529824.2_Missense_Mutation_p.A1668G|TIAM2_ENST00000528391.2_Missense_Mutation_p.A983G|TIAM2_ENST00000275246.7_Missense_Mutation_p.A564G|TIAM2_ENST00000456877.2_Missense_Mutation_p.A951G|TIAM2_ENST00000318981.5_Missense_Mutation_p.A1639G|TIAM2_ENST00000367174.2_Missense_Mutation_p.A1015G			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	1639				A -> T (in Ref. 7; BAC86170).	apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		AAACGAAAAGCCAACAGCACC	0.567													G	155578065	C	G	155578065	3	3	600	1	0	0	0	0	1	0	0	0	15991	739	26	4	5010	4	TIAM2	6	155578065	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	81349153	155578065	15537002	31	50197											
GLI3	2737	broad.mit.edu	37	chr7	42006178	42006178	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtccaccccagagaggtcGcttctgcccgggagaagcgt	8	6	13	14	4	1	2	0	0	1	2	3	4	2	2	4	2	2	1	4	2	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:42006178G>A	ENST00000395925.3	-	15	2577	c.2493C>T	c.(2491-2493)agC>agT	p.S831S	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	831					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.S831S(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CAGAGAGGTCGCTTCTGCCCG	0.602									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				A	42006178	G	A	42006178	2	1	600	1	0	0	0	0	0	0	0	1	6495	1078	38	1		1	GLI3	7	42006178	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42006178	117132485	32	50198											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	600	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	13226865	55233043	103905620	33	50199											
ZNF679	168417	broad.mit.edu	37	chr7	63709527	63709527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgggatcccctggaagccGagaaatggtgagtgctgggt	9	7	16	9	2	0	2	0	1	0	1	1	5	1	4	4	4	2	1	4	4	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:63709527G>A	ENST00000421025.1	+	2	301	c.32G>A	c.(31-33)cGa>cAa	p.R11Q	ZNF679_ENST00000255746.4_Missense_Mutation_p.R11Q	NM_001159524.1|NM_153363.2	NP_001152996.1|NP_699194.2	Q8IYX0	ZN679_HUMAN	zinc finger protein 679	11					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(3)|lung(11)|skin(1)|stomach(1)	18						CCTGGAAGCCGAGAAATGGTG	0.572													A	63709527	G	A	63709527	3	1	600	1	0	0	0	0	1	0	0	0	18187	1058	37	1	34	1	ZNF679	7	63709527	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8476484	63709527	95429136	34	50200											
ZAN	7455	broad.mit.edu	37	chr7	100349991	100349991	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagaaaaacccaccatcTccccagaaaaacccaccacc	17	2	2	20	0	1	2	0	0	1	2	2	2	1	2	8	0	2	0	8	0	4	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:100349991T>C	ENST00000542585.1	+	0	2411				ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		p.S755P(5)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ACCCACCATCTCCCCAGAAAA	0.517													C	100349991	T	C	100349991	1	2	600	0	1	0	0	0	0	0	0	0	17615	1551	54	3		3	ZAN	7	100349991	RNA	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08	36640464	100349991	58788672	35	50201											
PUS7	54517	broad.mit.edu	37	chr7	105142878	105142878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacacctacttgccaaagccTttttcccagctgcgtggtag	8	11	9	13	1	0	0	0	0	0	0	1	1	1	0	4	1	5	2	4	1	3	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:105142878T>C	ENST00000356362.2	-	5	933	c.719A>G	c.(718-720)aAg>aGg	p.K240R	PUS7_ENST00000469408.1_Missense_Mutation_p.K240R	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	240					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TGCCAAAGCCTTTTTCCCAGC	0.537													C	105142878	T	C	105142878	3	2	600	1	0	0	0	0	1	0	0	0	12921	1609	56	3	1314	3	PUS7	7	105142878	Missense_Mutation	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08	4792887	105142878	53995785	36	50202											
SLC13A1	6561	broad.mit.edu	37	chr7	122759134	122759134	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggggataaatgagatactcaCcaatggagataatattggga	16	9	12	4	0	1	2	1	1	0	2	1	6	1	4	1	4	1	0	1	4	6	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr7:122759134C>T	ENST00000194130.2	-	13	1552		c.e13+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	GAGATACTCACCAATGGAGAT	0.383													T	122759134	C	T	122759134	5	4	600	1	0	0	0	0	0	0	1	0	14485	521	18	2	286	2	SLC13A1	7	122759134	Splice_Site	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	17616256	122759134	36379529	37	50203											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													G	12957624	C	G	12957624	3	3	600	1	0	0	0	0	1	0	0	0	4589	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		12957624	133406398	38	50204											
ZHX1	11244	broad.mit.edu	37	chr8	124267666	124267666	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttactgatagatattcccGaagaagaaacttctgtagat	14	14	7	6	1	1	5	0	1	1	4	2	6	2	5	1	0	2	1	1	0	7	7	rs35951597	byFrequency	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr8:124267666G>A	ENST00000395571.3	-	3	1138	c.521C>T	c.(520-522)tCg>tTg	p.S174L	ZHX1_ENST00000522655.1_Missense_Mutation_p.S174L|ZHX1-C8ORF76_ENST00000357082.4_Intron|ZHX1_ENST00000297857.2_Missense_Mutation_p.S174L	NM_001017926.2|NM_007222.4	NP_001017926.1|NP_009153.3	Q9UKY1	ZHX1_HUMAN	zinc fingers and homeoboxes 1	174					negative regulation of transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(37;1.25e-09)|Ovarian(258;0.0154)		STAD - Stomach adenocarcinoma(47;0.00527)			AGATATTCCCGAAGAAGAAAC	0.343													A	124267666	G	A	124267666	3	1	600	1	0	0	0	0	1	0	0	0	17776	1059	37	1	2104	1	ZHX1	8	124267666	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	111310042	124267666	22096356	39	50205											
PPP3R2	5535	broad.mit.edu	37	chr9	104356877	104356877	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacctggaagagctccccGttggaaatgtagccatcttt	10	10	10	11	1	1	1	0	0	1	1	2	3	2	3	4	2	3	4	4	2	3	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:104356877G>A	ENST00000374806.1	-	1	406	c.336C>T	c.(334-336)aaC>aaT	p.N112N	GRIN3A_ENST00000361820.3_Intron	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN	protein phosphatase 3, regulatory subunit B, beta	109	EF-hand 3.						calcium ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22		Acute lymphoblastic leukemia(62;0.0527)			Cyclosporine(DB00091)	AGAGCTCCCCGTTGGAAATGT	0.542													A	104356877	G	A	104356877	2	1	600	1	0	0	0	0	0	0	0	1	12483	1136	40	1		1	PPP3R2	9	104356877	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		104356877	36856554	40	50206											
DNM1	1759	broad.mit.edu	37	chr9	130988317	130988317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccccgggtgcaggacGggcctcttcacacctgacct	5	8	10	18	2	2	1	1	1	1	0	4	2	4	2	6	3	1	1	6	3	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr9:130988317G>A	ENST00000393594.3	+	10	1254	c.1200G>A	c.(1198-1200)acG>acA	p.T400T	DNM1_ENST00000341179.7_Intron|DNM1_ENST00000475805.1_Silent_p.T400T|DNM1_ENST00000372923.3_Intron|DNM1_ENST00000486160.1_Silent_p.T400T			Q05193	DYN1_HUMAN	dynamin 1	400					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						GGTGCAGGACGGGCCTCTTCA	0.582													A	130988317	G	A	130988317	2	1	600	1	0	0	0	0	0	0	0	1	4709	1131	39	1		1	DNM1	9	130988317	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	26631440	130988317	10225114	41	50207											
CALML3	810	broad.mit.edu	37	chr10	5567140	5567140	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacggctgcatcaccacccGcgagctgggcacggtcatgc	7	5	14	15	4	2	0	2	0	0	0	2	2	2	1	2	4	3	4	2	4	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:5567140G>A	ENST00000315238.1	+	1	217	c.92G>A	c.(91-93)cGc>cAc	p.R31H	CALML3-AS1_ENST00000545372.1_RNA|CALML3-AS1_ENST00000542093.1_RNA|RP11-116G8.5_ENST00000442008.2_RNA	NM_005185.2	NP_005176.1	P27482	CALL3_HUMAN	calmodulin-like 3	31	EF-hand 1.						calcium ion binding			endometrium(3)|lung(2)	5						ATCACCACCCGCGAGCTGGGC	0.647													A	5567140	G	A	5567140	3	1	600	1	0	0	0	0	1	0	0	0	2613	1087	38	1	94	1	CALML3	10	5567140	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		5567140	129967607	42	50208											
TRDMT1	1787	broad.mit.edu	37	chr10	17204201	17204201	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatatgtaagaagctattcGtccttgaatcagtcatatca	14	13	7	7	1	3	2	3	1	0	1	5	3	4	2	1	0	1	2	1	0	7	6	rs143074583		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:17204201G>C	ENST00000377799.3	-	4	334	c.287C>G	c.(286-288)aCg>aGg	p.T96R	TRDMT1_ENST00000488990.1_Intron|TRDMT1_ENST00000452380.2_5'UTR|TRDMT1_ENST00000412821.3_Intron|TRDMT1_ENST00000358282.7_Intron|TRDMT1_ENST00000351358.4_Intron|TRDMT1_ENST00000457442.2_Missense_Mutation_p.T37R|TRDMT1_ENST00000377766.5_Intron	NM_004412.5	NP_004403.1	O14717	TRDMT_HUMAN	tRNA aspartic acid methyltransferase 1	96					tRNA processing	nucleus	DNA (cytosine-5-)-methyltransferase activity|DNA binding|RNA binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	18						GAAGCTATTCGTCCTTGAATC	0.343													C	17204201	G	C	17204201	3	2	600	1	0	0	0	0	1	0	0	0	16568	1145	40	4	920	4	TRDMT1	10	17204201	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	11637061	17204201	118330546	43	50209											
CTNNA3	29119	broad.mit.edu	37	chr10	68040315	68040315	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattgattatcatccaacacAttcaatgagcttttgcttaa	14	15	4	8	0	2	2	2	2	0	0	3	2	3	2	1	0	3	2	1	0	5	6			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr10:68040315A>C	ENST00000433211.2	-	13	1971	c.1797T>G	c.(1795-1797)aaT>aaG	p.N599K	CTNNA3_ENST00000373744.4_Missense_Mutation_p.N599K	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						CATCCAACACATTCAATGAGC	0.338													C	68040315	A	C	68040315	3	2	600	1	0	0	0	0	1	0	0	0	4047	214	8	5	914	5	CTNNA3	10	68040315	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	50836114	68040315	67494432	44	50210											
KRTAP5-1	387264	broad.mit.edu	37	chr11	1606265	1606265	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agccccccttggagcccccaGaagagccacagccccctttg	8	5	9	19	0	0	2	0	0	0	2	0	3	0	3	8	1	4	0	8	1	1	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:1606265G>C	ENST00000382171.2	-	1	248	c.215C>G	c.(214-216)tCt>tGt	p.S72C	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	72	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)		GGAGCCCCCAGAAGAGCCACA	0.677													C	1606265	G	C	1606265	3	2	600	1	0	0	0	0	1	0	0	0	8617	942	33	4	625	4	KRTAP5-1	11	1606265	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		1606265	133400251	45	50211											
OR8J3	81168	broad.mit.edu	37	chr11	55904472	55904472	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgctatcatatgcgaagcGcaggtggaaaaggctttttt	11	12	11	7	2	1	0	1	0	0	0	1	2	1	1	0	3	3	3	0	3	5	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:55904472G>A	ENST00000301529.1	-	1	722	c.723C>T	c.(721-723)tgC>tgT	p.C241C		NM_001004064.1	NP_001004064.1	Q8NGG0	OR8J3_HUMAN	olfactory receptor, family 8, subfamily J, member 3	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(1)|lung(38)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	59	Esophageal squamous(21;0.00693)					TATGCGAAGCGCAGGTGGAAA	0.388													A	55904472	G	A	55904472	2	1	600	1	0	0	0	0	0	0	0	1	11318	1079	38	1		1	OR8J3	11	55904472	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	54298207	55904472	79102044	46	50212											
TMPRSS13	84000	broad.mit.edu	37	chr11	117774318	117774318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcctccagggtccccacCtgaggaagttcccagcctgc	6	8	10	17	0	0	1	0	1	0	0	4	2	4	2	7	2	3	2	7	2	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr11:117774318C>T	ENST00000445164.2	-	12	1802	c.1729G>A	c.(1729-1731)Ggt>Agt	p.G577S	TMPRSS13_ENST00000524993.1_Intron|TMPRSS13_ENST00000430170.2_Intron|TMPRSS13_ENST00000528626.1_Intron			Q9BYE2	TMPSD_HUMAN	transmembrane protease, serine 13	572					proteolysis	integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|pancreas(1)|prostate(1)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.00106)		GGGTCCCCACCTGAGGAAGTT	0.577													T	117774318	C	T	117774318	3	4	600	1	0	0	0	0	1	0	0	0	16345	696	24	2		2	TMPRSS13	11	117774318	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	61869846	117774318	17232198	47	50213											
CD163L1	283316	broad.mit.edu	37	chr12	7527057	7527057	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgagcagatgacccctgcGtcctccttgtgcctgcagtc	5	10	10	16	1	0	3	0	2	0	1	3	3	2	3	6	0	4	2	6	0	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:7527057G>A	ENST00000313599.3	-	13	3447	c.3390C>T	c.(3388-3390)gaC>gaT	p.D1130D	CD163L1_ENST00000396630.1_Silent_p.D1130D|CD163L1_ENST00000416109.2_Silent_p.D1140D			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1130	SRCR 10.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						TGACCCCTGCGTCCTCCTTGT	0.567													A	7527057	G	A	7527057	2	1	600	1	0	0	0	0	0	0	0	1	2998	1136	40	1		1	CD163L1	12	7527057	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		7527057	126324838	48	50214											
NACA	4666	broad.mit.edu	37	chr12	57112308	57112308	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttgggggatggAgtagctggacctcctttggg	4	10	18	9	0	0	0	0	0	0	0	1	3	1	3	4	7	1	2	4	7	1	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000552540.1_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000546392.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								G	57112308	A	G	57112308	2	3	600	1	0	0	0	0	0	0	0	1	10209	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	49585251	57112308	76739587	49	50215											
KERA	11081	broad.mit.edu	37	chr12	91449551	91449551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttgttctgtaggtcaagaaGggtcaggttctccagattgc	8	13	13	7	0	4	2	2	0	2	2	5	2	4	2	1	3	1	4	1	3	3	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:91449551G>T	ENST00000266719.3	-	2	755	c.508C>A	c.(508-510)Ctt>Att	p.L170I		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	170					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						AGGTCAAGAAGGGTCAGGTTC	0.403													T	91449551	G	T	91449551	3	4	600	1	0	0	0	0	1	0	0	0	8201	1000	35	4	558	4	KERA	12	91449551	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	34337243	91449551	42402344	50	50216											
FAM71C	196472	broad.mit.edu	37	chr12	100043170	100043170	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattgtgattatacaatagaGatatgaatccaacatacctc	16	13	5	7	0	0	3	0	2	0	1	2	4	1	3	2	0	3	0	2	0	9	7			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr12:100043170G>A	ENST00000324341.1	+	2	1142	c.720G>A	c.(718-720)gaG>gaA	p.E240E	ANKS1B_ENST00000547776.2_Intron|ANKS1B_ENST00000329257.7_Intron|ANKS1B_ENST00000547010.1_Intron	NM_153364.3	NP_699195.1	Q8NEG0	FA71C_HUMAN	family with sequence similarity 71, member C	240										breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(2;0.00733)|Epithelial(2;0.0385)|all cancers(2;0.19)		ATACAATAGAGATATGAATCC	0.413													A	100043170	G	A	100043170	2	1	600	1	0	0	0	0	0	0	0	1	5659	933	33	2		2	FAM71C	12	100043170	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8593619	100043170	33808725	51	50217											
HSPA2	3306	broad.mit.edu	37	chr14	65007730	65007730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcgcctcatcggcgacGccgccaagaaccaggtggcc	8	3	13	17	6	1	1	1	0	0	1	2	3	1	1	6	3	2	0	6	3	2	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr14:65007730G>A	ENST00000247207.6	+	1	545	c.163G>A	c.(163-165)Gcc>Acc	p.A55T	HSPA2_ENST00000394709.1_Missense_Mutation_p.A55T|HSPA2_ENST00000554883.1_Intron	NM_021979.3	NP_068814.2	P54652	HSP72_HUMAN	heat shock 70kDa protein 2	55					response to unfolded protein|spermatid development	cell surface	ATP binding|unfolded protein binding			breast(1)|endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00515)|OV - Ovarian serous cystadenocarcinoma(108;0.00584)|BRCA - Breast invasive adenocarcinoma(234;0.045)		CATCGGCGACGCCGCCAAGAA	0.597													A	65007730	G	A	65007730	3	1	600	1	0	0	0	0	1	0	0	0	7468	1087	38	1	165	1	HSPA2	14	65007730	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		65007730	42341810	52	50218											
TGM5	9333	broad.mit.edu	37	chr15	43545044	43545044	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcttcaggatggccaCgctgcccgtccactccgcag	6	7	10	18	3	1	0	1	0	0	0	3	1	3	1	5	2	2	3	5	2	0	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:43545044C>G	ENST00000220420.5	-	6	782	c.775G>C	c.(775-777)Gtg>Ctg	p.V259L	TGM5_ENST00000349114.4_Missense_Mutation_p.V177L	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	259					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)	AGGATGGCCACGCTGCCCGTC	0.567													G	43545044	C	G	43545044	3	3	600	1	0	0	0	0	1	0	0	0	15933	536	19	4	1419	4	TGM5	15	43545044	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		43545044	58986348	53	50219											
ACSBG1	23205	broad.mit.edu	37	chr15	78466000	78466000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttctggatgtggtagggcCgggccgccgcgttcatgttg	4	11	16	10	4	2	0	1	0	1	0	2	1	2	1	3	4	0	3	3	4	1	4			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr15:78466000C>T	ENST00000258873.4	-	13	2229	c.2024G>A	c.(2023-2025)cGg>cAg	p.R675Q	ACSBG1_ENST00000560817.1_Missense_Mutation_p.R433Q|ACSBG1_ENST00000541759.1_Missense_Mutation_p.R433Q	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	675					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						GTGGTAGGGCCGGGCCGCCGC	0.562													T	78466000	C	T	78466000	3	4	600	1	0	0	0	0	1	0	0	0	173	652	23	1	158	1	ACSBG1	15	78466000	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34920956	78466000	24065392	54	50220											
LAT	27040	broad.mit.edu	37	chr16	28996764	28996764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccatcctggtcccctGcgtgctggggctcctgctgc	2	9	15	15	1	0	0	0	0	0	0	3	1	3	1	5	5	4	3	5	5	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr16:28996764G>A	ENST00000395456.2	+	1	348	c.26G>A	c.(25-27)tGc>tAc	p.C9Y	RP11-264B17.3_ENST00000569969.1_RNA|LAT_ENST00000454369.2_Missense_Mutation_p.C9Y|LAT_ENST00000354453.4_Missense_Mutation_p.C9Y|LAT_ENST00000566177.1_Missense_Mutation_p.C9Y|LAT_ENST00000563964.1_3'UTR|LAT_ENST00000360872.5_Missense_Mutation_p.C9Y|LAT_ENST00000395461.3_Missense_Mutation_p.C45Y|LAT_ENST00000564277.1_Missense_Mutation_p.C9Y	NM_001014987.1|NM_001014988.1|NM_014387.3	NP_001014987.1|NP_001014988.1|NP_055202.1	O43561	LAT_HUMAN	linker for activation of T cells	9					calcium-mediated signaling|integrin-mediated signaling pathway|mast cell degranulation|platelet activation|Ras protein signal transduction|regulation of T cell activation|T cell receptor signaling pathway	immunological synapse|integral to membrane|intracellular|membrane raft	SH3/SH2 adaptor activity			large_intestine(2)|lung(3)|urinary_tract(1)	6		Hepatocellular(780;0.244)				CTGGTCCCCTGCGTGCTGGGG	0.642													A	28996764	G	A	28996764	3	1	600	1	0	0	0	0	1	0	0	0	8703	1319	46	2	140	2	LAT	16	28996764	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		28996764	61357989	55	50221											
PIK3R6	146850	broad.mit.edu	37	chr17	8741186	8741186	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccggaggtcctggctttcCgcctggaaaacaggagatca	9	8	13	11	2	1	1	1	0	0	1	3	4	3	3	4	5	2	1	4	5	2	1	rs149242502	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:8741186C>T	ENST00000311434.9	-	5	431	c.192G>A	c.(190-192)gcG>gcA	p.A64A	PIK3R6_ENST00000434064.2_5'UTR	NM_001010855.2	NP_001010855.1	Q5UE93	PI3R6_HUMAN	phosphoinositide-3-kinase, regulatory subunit 6	64					platelet activation	cytosol											CCTGGCTTTCCGCCTGGAAAA	0.582													T	8741186	C	T	8741186	2	4	600	1	0	0	0	0	0	0	0	1	12000	639	23	1		1	PIK3R6	17	8741186	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		8741186	72454024	56	50222											
EPN3	55040	broad.mit.edu	37	chr17	48613860	48613860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actgtgacctcgccacagtgGccctcagccctccacctccg	6	7	8	20	2	1	1	1	1	0	0	4	1	3	1	7	1	1	0	7	1	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:48613860G>A	ENST00000537145.1	+	2	327	c.190G>A	c.(190-192)Gcc>Acc	p.A64T	EPN3_ENST00000268933.3_5'UTR|EPN3_ENST00000541226.1_5'UTR			Q9H201	EPN3_HUMAN	epsin 3	225	ENTH.					clathrin-coated vesicle|nucleus|perinuclear region of cytoplasm	lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;2.88e-09)			CGCCACAGTGGCCCTCAGCCC	0.647													A	48613860	G	A	48613860	3	1	600	1	0	0	0	0	1	0	0	0	5228	1218	42	2		2	EPN3	17	48613860	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	39872674	48613860	32581350	57	50223											
MED13	9969	broad.mit.edu	37	chr17	60111221	60111221	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttttcttcagacatctcCttcaagcaacatgagatagg	11	14	7	9	0	4	2	2	1	2	2	5	3	4	2	1	1	2	2	1	1	3	5			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr17:60111221C>T	ENST00000397786.2	-	5	817	c.741G>A	c.(739-741)aaG>aaA	p.K247K		NM_005121.2	NP_005112.2	Q9UHV7	MED13_HUMAN	mediator complex subunit 13	247					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(4)|central_nervous_system(1)|endometrium(10)|kidney(24)|large_intestine(15)|liver(1)|lung(20)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CAGACATCTCCTTCAAGCAAC	0.383													T	60111221	C	T	60111221	2	4	600	1	0	0	0	0	0	0	0	1	9505	680	24	2		2	MED13	17	60111221	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	11497361	60111221	21083989	58	50224											
SETBP1	26040	broad.mit.edu	37	chr18	42532027	42532027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccggaggccattccgtccGacaccagcacaaagaaccgg	12	3	10	16	4	0	1	0	0	0	1	2	3	2	2	6	3	2	1	6	3	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:42532027G>A	ENST00000282030.5	+	4	3018	c.2722G>A	c.(2722-2724)Gac>Aac	p.D908N		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	908						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CATTCCGTCCGACACCAGCAC	0.532									Schinzel-Giedion syndrome				A	42532027	G	A	42532027	3	1	600	1	0	0	0	0	1	0	0	0	14222	1058	37	1	2925	1	SETBP1	18	42532027	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		42532027	35545221	59	50225											
SALL3	27164	broad.mit.edu	37	chr18	76752248	76752248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcgtgcacgaggacgCgcccgcgccgccccccgagg	5	3	15	18	8	0	1	0	1	0	0	1	4	0	2	5	2	1	2	5	2	0	0			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr18:76752248C>T	ENST00000575389.2	+	2	257	c.257C>T	c.(256-258)gCg>gTg	p.A86V	SALL3_ENST00000537592.2_Missense_Mutation_p.A86V|SALL3_ENST00000536229.3_5'UTR			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	86					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		CACGAGGACGCGCCCGCGCCG	0.726													T	76752248	C	T	76752248	3	4	600	1	0	0	0	0	1	0	0	0	13903	768	27	1	263	1	SALL3	18	76752248	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	34220221	76752248	1325000	60	50226											
HCN2	610	broad.mit.edu	37	chr19	613254	613254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccccctgcaggagatcGtcaacttcaactgccggaag	9	7	9	16	2	2	1	2	0	0	1	4	3	3	2	5	2	4	1	5	2	3	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:613254G>A	ENST00000251287.2	+	6	1644	c.1591G>A	c.(1591-1593)Gtc>Atc	p.V531I		NM_001194.3	NP_001185.3	Q9UL51	HCN2_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 2	531					cell-cell signaling|muscle contraction	voltage-gated potassium channel complex	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			endometrium(5)|lung(4)	9		all_epithelial(18;2.78e-22)|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)		GCAGGAGATCGTCAACTTCAA	0.672													A	613254	G	A	613254	3	1	600	1	0	0	0	0	1	0	0	0	7052	1145	40	1	1613	1	HCN2	19	613254	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08		613254	58515729	61	50227											
KIAA1683	80726	broad.mit.edu	37	chr19	18377437	18377437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggatggtctcgtaactgCctggtcataccttctggaca	7	13	10	11	1	4	0	1	0	3	0	5	2	4	2	2	4	3	1	2	4	2	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:18377437C>T	ENST00000392413.4	-	3	1128	c.913G>A	c.(913-915)Gca>Aca	p.A305T	KIAA1683_ENST00000600359.3_Missense_Mutation_p.A259T|KIAA1683_ENST00000600328.3_Missense_Mutation_p.A305T	NM_001145304.1	NP_001138776.1	Q9H0B3	K1683_HUMAN	KIAA1683							mitochondrion				breast(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(11)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37						CTCGTAACTGCCTGGTCATAC	0.567													T	18377437	C	T	18377437	3	4	600	1	0	0	0	0	1	0	0	0	8309	739	26	2	3198	2	KIAA1683	19	18377437	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	17764183	18377437	40751546	62	50228											
TMEM91	641649	broad.mit.edu	37	chr19	41889651	41889651	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggccaagggggacatccAgggggcaggggccgcctccc	6	4	18	13	1	0	0	0	0	0	0	2	1	2	1	5	7	0	1	5	7	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr19:41889651A>G	ENST00000392002.2	+	4	1052	c.392A>G	c.(391-393)cAg>cGg	p.Q131R	TMEM91_ENST00000542945.1_3'UTR|TMEM91_ENST00000539627.1_3'UTR|TMEM91_ENST00000436170.2_Intron|TMEM91_ENST00000356385.4_3'UTR|TMEM91_ENST00000544232.1_Intron|TMEM91_ENST00000413014.2_Intron|CTC-435M10.3_ENST00000540732.1_Intron|TMEM91_ENST00000604123.1_Intron|CTC-435M10.3_ENST00000604424.1_Intron|TMEM91_ENST00000447302.2_Intron|BCKDHA_ENST00000595085.1_Intron	NM_001098821.1	NP_001092291.1			transmembrane protein 91											lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	5						GGGGACATCCAGGGGGCAGGG	0.706													G	41889651	A	G	41889651	3	3	600	1	0	0	0	0	1	0	0	0	16320	188	7	3	466	3	TMEM91	19	41889651	Missense_Mutation	SNP	A	TCGA-HT-A5RC-01A-11D-A289-08	23512214	41889651	17239332	63	50229											
MYH7B	57644	broad.mit.edu	37	chr20	33568534	33568534	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgcctacaacgacatgctgCgcagtaagggccgcctggac	10	5	12	14	4	0	0	0	0	0	0	0	2	0	1	3	2	4	3	3	2	3	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr20:33568534C>T	ENST00000262873.7	+	6	714	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	166	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CGACATGCTGCGCAGTAAGGG	0.652													T	33568534	C	T	33568534	3	4	600	1	0	0	0	0	1	0	0	0	10116	768	27	1	644	1	MYH7B	20	33568534	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		33568534	29456986	64	50230											
BAGE2	85319	broad.mit.edu	37	chr21	11058353	11058353	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaaaggagagaaatctcttTataaaaccttgaaaaggaat	19	10	8	4	0	1	2	0	1	1	1	2	5	1	4	1	2	1	1	1	2	9	5	rs79433933	by1000genomes	TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr21:11058353T>C	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GAAATCTCTTTATAAAACCTT	0.343													C	11058353	T	C	11058353	1	2	600	0	1	0	0	0	0	0	0	0	1297	1769	61	3		3	BAGE2	21	11058353	RNA	SNP	T	TCGA-HT-A5RC-01A-11D-A289-08		11058353	37071542	65	50231											
SYN3	8224	broad.mit.edu	37	chr22	32937651	32937651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgtaggttttggccatggCgaccacgctggtgatgtcct	5	11	15	10	3	0	1	0	1	0	0	1	2	1	1	3	5	0	3	3	5	1	3	rs141167959		TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:32937651C>T	ENST00000358763.2	-	8	1065	c.823G>A	c.(823-825)Gcc>Acc	p.A275T	SYN3_ENST00000332840.5_Missense_Mutation_p.A275T	NM_001135774.1	NP_001129246.1	O14994	SYN3_HUMAN	synapsin III	275	C; actin-binding and synaptic-vesicle binding.				neurotransmitter secretion	cell junction|synaptic vesicle membrane	ATP binding|ligase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						TTGGCCATGGCGACCACGCTG	0.542													T	32937651	C	T	32937651	3	4	600	1	0	0	0	0	1	0	0	0	15539	768	27	1	947	1	SYN3	22	32937651	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		32937651	18366915	66	50232											
TMPRSS6	164656	broad.mit.edu	37	chr22	37471260	37471260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagttgatggtgatcccGgccgtggccaccacggggat	7	8	16	10	3	0	3	0	3	0	0	1	4	1	4	4	5	0	1	4	5	1	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chr22:37471260G>A	ENST00000381792.2	-	11	1397	c.1257C>T	c.(1255-1257)gcC>gcT	p.A419A	TMPRSS6_ENST00000346753.3_Silent_p.A428A|TMPRSS6_ENST00000406725.1_Silent_p.A419A|TMPRSS6_ENST00000406856.1_Silent_p.A419A			Q8IU80	TMPS6_HUMAN	transmembrane protease, serine 6	428	CUB 2.				angiogenesis|extracellular matrix organization|fibrinolysis|intracellular signal transduction|proteolysis	integral to membrane|intracellular|plasma membrane	serine-type endopeptidase activity			breast(5)|central_nervous_system(4)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)	40						TGGTGATCCCGGCCGTGGCCA	0.652													A	37471260	G	A	37471260	2	1	600	1	0	0	0	0	0	0	0	1	16351	1103	39	1		1	TMPRSS6	22	37471260	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	4533609	37471260	13833306	67	50233											
CD99	4267	broad.mit.edu	37	chrX	2656284	2656284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagccaccggaatgccaaCgcagagccagctggtaagaa	14	3	13	11	2	0	3	0	0	0	3	0	5	0	4	4	2	5	3	4	2	4	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:2656284C>T	ENST00000381192.3	+	9	701	c.519C>T	c.(517-519)aaC>aaT	p.N173N	CD99_ENST00000381187.3_Silent_p.N157N	NM_001277710.1|NM_002414.3	NP_001264639.1|NP_002405.1	P14209	CD99_HUMAN	CD99 molecule	173			N -> I (in dbSNP:rs4717).		cell adhesion	cytoplasm|integral to plasma membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)|skin(1)	11						GGAATGCCAACGCAGAGCCAG	0.527													T	2656284	C	T	2656284	2	4	600	1	0	0	0	0	0	0	0	1	3080	535	19	1		1	CD99	23	2656284	Silent	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08		2656284	152614276	68	50234											
MID1	4281	broad.mit.edu	37	chrX	10534972	10534972	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaagctgccacctgatgatCgcggtgccgcccaaccagtt	9	7	10	15	3	0	2	0	2	0	0	1	2	0	2	5	1	4	2	5	1	2	1			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:10534972C>T	ENST00000317552.4	-	2	1016	c.616G>A	c.(616-618)Gat>Aat	p.D206N	MID1_ENST00000380779.1_Missense_Mutation_p.D206N|MID1_ENST00000453318.2_Missense_Mutation_p.D206N|MID1_ENST00000380782.2_Missense_Mutation_p.D206N|MID1_ENST00000380785.1_Missense_Mutation_p.D206N|MID1_ENST00000380787.1_Missense_Mutation_p.D206N|MID1_ENST00000380780.1_Missense_Mutation_p.D206N	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	206					microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						ACCTGATGATCGCGGTGCCGC	0.488													T	10534972	C	T	10534972	3	4	600	1	0	0	0	0	1	0	0	0	9651	884	31	1	1423	1	MID1	23	10534972	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	7878688	10534972	144735588	69	50235											
GPR64	10149	broad.mit.edu	37	chrX	19031906	19031906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtggggtgccggagacatGggtttggggcataggggaag	8	7	22	4	1	0	1	0	0	0	1	0	3	0	2	1	9	1	2	1	9	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:19031906G>A	ENST00000354791.3	-	15	1190	c.949C>T	c.(949-951)Cat>Tat	p.H317Y	GPR64_ENST00000379876.1_Missense_Mutation_p.H309Y|GPR64_ENST00000340581.3_Missense_Mutation_p.H303Y|GPR64_ENST00000379873.2_Missense_Mutation_p.H333Y|GPR64_ENST00000379869.3_Missense_Mutation_p.H333Y|GPR64_ENST00000357991.3_Missense_Mutation_p.H330Y|GPR64_ENST00000360279.4_Missense_Mutation_p.H311Y|GPR64_ENST00000357544.3_Missense_Mutation_p.H303Y|GPR64_ENST00000356606.4_Missense_Mutation_p.H319Y|GPR64_ENST00000379878.3_Missense_Mutation_p.H317Y			Q8IZP9	GPR64_HUMAN	G protein-coupled receptor 64	333					neuropeptide signaling pathway|spermatogenesis	cytoplasm|integral to plasma membrane	G-protein coupled receptor activity			breast(5)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(18)|stomach(1)|urinary_tract(1)	42	Hepatocellular(33;0.183)					CCGGAGACATGGGTTTGGGGC	0.582													A	19031906	G	A	19031906	3	1	600	1	0	0	0	0	1	0	0	0	6759	1348	47	2	2112	2	GPR64	23	19031906	Missense_Mutation	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	8496934	19031906	136238654	70	50236											
DCAF12L1	139170	broad.mit.edu	37	chrX	125686253	125686253	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgtgttacacttggtgccGcacaccacctgcctggagtt	7	10	11	13	2	0	0	0	0	0	0	0	1	0	1	4	2	4	3	4	2	1	3			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:125686253G>A	ENST00000371126.1	-	1	581	c.339C>T	c.(337-339)tgC>tgT	p.C113C		NM_178470.4	NP_848565.2	Q5VU92	DC121_HUMAN	DDB1 and CUL4 associated factor 12-like 1	113										breast(1)|central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(39)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						ACTTGGTGCCGCACACCACCT	0.637													A	125686253	G	A	125686253	2	1	600	1	0	0	0	0	0	0	0	1	4298	1079	38	1		1	DCAF12L1	23	125686253	Silent	SNP	G	TCGA-HT-A5RC-01A-11D-A289-08	106654347	125686253	29584307	71	50237											
PNMA5	114824	broad.mit.edu	37	chrX	152159280	152159280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctaagagatgtttcagaCgaatcatgtctgtgctgcgc	10	11	12	8	2	3	2	2	0	1	2	3	5	3	2	0	0	3	3	0	0	2	2			TCGA-HT-A5RC-01A-11D-A289-08	TCGA-HT-A5RC-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	857b2ffe-7177-426d-951e-0d5a519dc3a2	51fde4fb-c360-49e9-b5d9-252ba0b4169a	g.chrX:152159280C>T	ENST00000439251.1	-	2	1301	c.863G>A	c.(862-864)cGt>cAt	p.R288H	PNMA5_ENST00000361887.5_Missense_Mutation_p.R288H|PNMA5_ENST00000452693.1_Missense_Mutation_p.R288H|PNMA5_ENST00000535214.1_Missense_Mutation_p.R288H	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	288					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					ATGTTTCAGACGAATCATGTC	0.562													T	152159280	C	T	152159280	3	4	600	1	0	0	0	0	1	0	0	0	12233	536	19	1	487	1	PNMA5	23	152159280	Missense_Mutation	SNP	C	TCGA-HT-A5RC-01A-11D-A289-08	26473027	152159280	3111280	72	50238											
RAVER2	55225	broad.mit.edu	37	chr1	65268729	65268729	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgcatttttacatttGaataaagcacatcaggtaca	13	14	5	9	0	2	1	1	1	1	0	3	1	2	1	1	1	4	3	1	1	5	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:65268729G>T	ENST00000294428.3	+	6	1254	c.1176G>T	c.(1174-1176)ttG>ttT	p.L392F	RAVER2_ENST00000371072.4_Missense_Mutation_p.L392F|RAVER2_ENST00000430964.2_Missense_Mutation_p.L98F			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	392						cytoplasm|nucleus	nucleotide binding|RNA binding	p.L392F(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TTTTACATTTGAATAAAGCAC	0.323													T	65268729	G	T	65268729	3	4	601	1	0	0	0	0	1	0	0	0	13183	1281	45	4	1198	4	RAVER2	1	65268729	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		65268729	183981892	1	50239											
SLC35D1	23169	broad.mit.edu	37	chr1	67517761	67517761	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtagaggtagtggaaacGtctagaaaatttaaaaaggg	18	9	12	2	1	1	2	0	0	1	2	1	3	1	3	0	3	1	2	0	3	10	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:67517761G>A	ENST00000235345.5	-	4	411	c.326C>T	c.(325-327)aCg>aTg	p.T109M	SLC35D1_ENST00000506472.2_Splice_Site_p.T30M	NM_015139.2	NP_055954.1	Q9NTN3	S35D1_HUMAN	solute carrier family 35 (UDP-GlcA/UDP-GalNAc transporter), member D1	109					chondroitin sulfate biosynthetic process|UDP-glucuronate biosynthetic process|xenobiotic metabolic process	integral to endoplasmic reticulum membrane	UDP-glucuronic acid transmembrane transporter activity|UDP-N-acetylgalactosamine transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(4)	10					Lorazepam(DB00186)	TAGTGGAAACGTCTAGAAAAT	0.299													A	67517761	G	A	67517761	5	1	601	1	0	0	0	0	0	0	1	0	14675	1159	40	1	777	1	SLC35D1	1	67517761	Splice_Site	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2249032	67517761	181732860	2	50240											
CRTC2	200186	broad.mit.edu	37	chr1	153924630	153924630	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtccaggggggtgggCagtggtgggggaaagtgcag	7	6	23	5	0	1	0	1	0	0	0	2	1	2	1	1	8	1	2	1	8	1	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:153924630C>A	ENST00000368633.1	-	10	988	c.861G>T	c.(859-861)ctG>ctT	p.L287L	CRTC2_ENST00000368630.3_Intron	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	287					interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			GGGGGGTGGGCAGTGGTGGGG	0.612													A	153924630	C	A	153924630	2	1	601	1	0	0	0	0	0	0	0	1	3931	697	25	4		4	CRTC2	1	153924630	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	86406869	153924630	95325991	3	50241											
AQP10	89872	broad.mit.edu	37	chr1	154295506	154295506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccatgtgcatcgttggacGcctcccctgggtcaagctcc	5	9	12	15	2	1	0	1	0	0	0	4	1	3	1	5	3	2	3	5	3	1	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr1:154295506G>A	ENST00000484864.1	+	3	317	c.281G>A	c.(280-282)cGc>cAc	p.R94H	AQP10_ENST00000355197.4_3'UTR|AQP10_ENST00000324978.3_Missense_Mutation_p.R94H			Q96PS8	AQP10_HUMAN	aquaporin 10	94					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			ATCGTTGGACGCCTCCCCTGG	0.532													A	154295506	G	A	154295506	3	1	601	1	0	0	0	0	1	0	0	0	825	1087	38	1	291	1	AQP10	1	154295506	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	370876	154295506	94955115	4	50242											
APOB	338	broad.mit.edu	37	chr2	21230419	21230419	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcctccataatgttctcGttgtttccagcagagaaatt	9	14	9	9	1	1	1	0	0	1	1	4	2	3	1	3	1	1	4	3	1	2	5	rs72653101		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:21230419G>A	ENST00000233242.1	-	26	9448	c.9321C>T	c.(9319-9321)aaC>aaT	p.N3107N		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3107					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TAATGTTCTCGTTGTTTCCAG	0.403													A	21230419	G	A	21230419	2	1	601	1	0	0	0	0	0	0	0	1	788	1136	40	1		1	APOB	2	21230419	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		21230419	221968954	5	50243											
WDR54	84058	broad.mit.edu	37	chr2	74652340	74652340	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggccatctgcgccctGgacctggcttctgaggtggg	3	8	16	14	2	2	1	0	1	2	0	2	2	2	2	4	5	1	1	4	5	0	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:74652340G>A	ENST00000348227.4	+	8	862	c.774G>A	c.(772-774)ctG>ctA	p.L258L	WDR54_ENST00000461531.1_3'UTR|WDR54_ENST00000409791.1_Silent_p.L206L	NM_032118.2	NP_115494.1	Q9H977	WDR54_HUMAN	WD repeat domain 54	258										breast(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	9						TCTGCGCCCTGGACCTGGCTT	0.527													A	74652340	G	A	74652340	2	1	601	1	0	0	0	0	0	0	0	1	17408	1335	47	2		2	WDR54	2	74652340	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	53421921	74652340	168547033	6	50244											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	601	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	134460772	209113112	34086261	7	50245											
ZNF385D	79750	broad.mit.edu	37	chr3	21606071	21606071	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgataaacttacatcagAattaaatctcaactggcaaa	20	10	4	7	0	2	2	2	1	1	1	3	2	2	2	0	1	3	1	0	1	9	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:21606071A>G	ENST00000281523.2	-	3	789	c.271T>C	c.(271-273)Tct>Cct	p.S91P	ZNF385D_ENST00000494118.1_5'UTR|ZNF385D-AS1_ENST00000412369.1_RNA	NM_024697.2	NP_078973.1	Q9H6B1	Z385D_HUMAN	zinc finger protein 385D	91						nucleus	nucleic acid binding|zinc ion binding			NS(2)|breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(1)|prostate(1)|skin(4)	46						CTTACATCAGAATTAAATCTC	0.343													G	21606071	A	G	21606071	3	3	601	1	0	0	0	0	1	0	0	0	17979	246	9	3	940	3	ZNF385D	3	21606071	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		21606071	176416359	8	50246											
SMARCC1	6599	broad.mit.edu	37	chr3	47704025	47704025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggatgcattcatcctgagTacgacttccaacatgttccg	10	11	9	11	2	1	1	1	1	0	0	4	4	4	2	3	1	3	3	3	1	2	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr3:47704025T>C	ENST00000254480.5	-	20	2076	c.1957A>G	c.(1957-1959)Act>Gct	p.T653A	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	653	SANT.				chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		TCATCCTGAGTACGACTTCCA	0.458													C	47704025	T	C	47704025	3	2	601	1	0	0	0	0	1	0	0	0	14869	1638	57	3	1396	3	SMARCC1	3	47704025	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	26097954	47704025	150318405	9	50247											
TMEM129	92305	broad.mit.edu	37	chr4	1722422	1722422	+	Frame_Shift_Del	DEL	A	A	-																															ggcgcaagtggaagggcacgAaggcggcgtcctcgctgccc																										TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:1722422delA	ENST00000382936.3	-	1	636	c.143delT	c.(142-144)ttcfs	p.F48fs	TMEM129_ENST00000536901.1_Frame_Shift_Del_p.F48fs|TMEM129_ENST00000303277.2_Frame_Shift_Del_p.F48fs	NM_001127266.1	NP_001120738.1	A0AVI4	TM129_HUMAN	transmembrane protein 129	48						integral to membrane				lung(2)	2			OV - Ovarian serous cystadenocarcinoma(23;0.00765)			GAAGGGCACGAAGGCGGCGTC	0.711													-	1722422	A	-	1722422	7	5	601	1	0	1	0	1	0	0	0	0	16142	246	9	0	961	0	TMEM129	4	1722422	Frame_Shift_Del	DEL	A	TCGA-HT-A614-01A-11D-A29Q-08		1722422	189431854	10	50248											
CCDC149	91050	broad.mit.edu	37	chr4	24875312	24875312	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ataagtcttacctgtttcctTttttcaggaggaagtgatgg	9	16	10	6	0	2	1	1	1	1	0	3	3	3	3	2	3	1	1	2	3	3	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:24875312T>C	ENST00000504487.1	-	3	261	c.255A>G	c.(253-255)aaA>aaG	p.K85K	CCDC149_ENST00000428116.2_Silent_p.K30K|CCDC149_ENST00000389609.4_Silent_p.K85K|CCDC149_ENST00000502801.1_Silent_p.K85K	NM_001130726.2	NP_001124198.1	B4DZG3	B4DZG3_HUMAN	coiled-coil domain containing 149	85										cervix(1)|endometrium(1)|large_intestine(2)|lung(3)	7		Breast(46;0.173)				CCTGTTTCCTTTTTTCAGGAG	0.343													C	24875312	T	C	24875312	2	2	601	1	0	0	0	0	0	0	0	1	2809	1838	64	3		3	CCDC149	4	24875312	Silent	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	23152890	24875312	166278964	11	50249											
YTHDC1	91746	broad.mit.edu	37	chr4	69189859	69189859	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattaaggccacaaacctGtccatcacgtccgatcttta	12	11	5	13	2	3	0	2	0	1	0	5	1	5	0	4	1	1	0	4	1	4	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:69189859G>A	ENST00000344157.4	-	10	1767	c.1432C>T	c.(1432-1434)Cag>Tag	p.Q478*	YTHDC1_ENST00000355665.3_Nonsense_Mutation_p.Q460*|YTHDC1_ENST00000579690.1_Nonsense_Mutation_p.Q478*	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	478	YTH.									NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CCACAAACCTGTCCATCACGT	0.353													A	69189859	G	A	69189859	4	1	601	1	0	0	0	0	0	1	0	0	17598	1386	48	2	783	2	YTHDC1	4	69189859	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	44314547	69189859	121964417	12	50250											
ADH7	131	broad.mit.edu	37	chr4	100349018	100349018	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggagctgcatcatcaatcTtagcaacagaagattcatcc	14	9	8	10	0	4	2	3	0	1	2	5	4	5	3	1	1	4	3	1	1	4	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:100349018T>A	ENST00000437033.2	-	5	979	c.476A>T	c.(475-477)aAg>aTg	p.K159M	ADH7_ENST00000482593.1_Missense_Mutation_p.K102M|ADH7_ENST00000476959.1_Missense_Mutation_p.K179M|ADH7_ENST00000209665.4_Missense_Mutation_p.K171M			P40394	ADH7_HUMAN	alcohol dehydrogenase 7 (class IV), mu or sigma polypeptide	171					ethanol oxidation|fatty acid omega-oxidation|response to bacterium|response to ethanol|xenobiotic metabolic process	cytosol|soluble fraction	alcohol dehydrogenase activity, zinc-dependent|aldehyde oxidase activity|ethanol binding|receptor antagonist activity|retinol binding|retinol dehydrogenase activity			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)	19				OV - Ovarian serous cystadenocarcinoma(123;1.75e-08)	NADH(DB00157)	ATCATCAATCTTAGCAACAGA	0.463													A	100349018	T	A	100349018	3	1	601	1	0	0	0	0	1	0	0	0	313	1609	56	5	668	5	ADH7	4	100349018	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08	31159159	100349018	90805258	13	50251											
DCHS2	54798	broad.mit.edu	37	chr4	155241554	155241554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgactcatctagcataaacGtcatgttttcatttcctgag	11	15	6	9	1	4	2	3	2	1	0	5	2	5	2	1	0	2	2	1	0	3	5			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr4:155241554G>A	ENST00000357232.4	-	14	3631	c.3632C>T	c.(3631-3633)aCg>aTg	p.T1211M		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 10.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAGCATAAACGTCATGTTTTC	0.408													A	155241554	G	A	155241554	3	1	601	1	0	0	0	0	1	0	0	0	4322	1145	40	1	5166	1	DCHS2	4	155241554	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	54892536	155241554	35912722	14	50252											
SLC6A18	348932	broad.mit.edu	37	chr5	1243683	1243683	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attgcagagtgcctcgggccCgggcctggccttcgtcgtct	3	10	14	14	4	1	1	0	0	1	1	4	1	1	1	4	3	2	1	4	3	0	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:1243683C>T	ENST00000324642.3	+	9	1268	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L	SLC6A18_ENST00000296821.4_Missense_Mutation_p.P311L	NM_182632.2	NP_872438.2	Q96N87	S6A18_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 18	382					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(4)|upper_aerodigestive_tract(1)	34	all_cancers(3;2.99e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.76e-10)		Epithelial(17;0.000356)|all cancers(22;0.00124)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GCCTCGGGCCCGGGCCTGGCC	0.647													T	1243683	C	T	1243683	3	4	601	1	0	0	0	0	1	0	0	0	14775	652	23	1	1179	1	SLC6A18	5	1243683	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		1243683	179671577	15	50253											
DAP	1611	broad.mit.edu	37	chr5	10748365	10748365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggtgtttctgcacaattCgcattccaccagctttcact	7	14	8	12	1	2	0	1	0	1	0	4	0	3	0	2	1	2	4	2	1	1	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:10748365C>T	ENST00000230895.6	-	2	277	c.74G>A	c.(73-75)cGa>cAa	p.R25Q	DAP_ENST00000432074.2_Missense_Mutation_p.R25Q|DAP_ENST00000510546.1_5'UTR	NM_004394.2	NP_004385.1	P51397	DAP1_HUMAN	death-associated protein	25					activation of caspase activity|cellular response to amino acid starvation|induction of apoptosis by extracellular signals|negative regulation of autophagy|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription, DNA-dependent		death domain binding	p.R25Q(1)		endometrium(1)|large_intestine(1)|lung(1)	3		Ovarian(839;1.34e-05)|Breast(839;0.0634)|Lung NSC(810;0.0804)				CTGCACAATTCGCATTCCACC	0.502													T	10748365	C	T	10748365	3	4	601	1	0	0	0	0	1	0	0	0	4267	884	31	1	246	1	DAP	5	10748365	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	9504682	10748365	170166895	16	50254											
PCDHAC2	56134	broad.mit.edu	37	chr5	140347873	140347873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaggtgacctactccCttctggagagggagattcaa	11	9	12	9	0	2	4	1	1	1	3	3	6	3	4	2	3	2	1	2	3	2	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:140347873C>T	ENST00000289269.5	+	1	2054	c.1522C>T	c.(1522-1524)Ctt>Ttt	p.L508F	PCDHA7_ENST00000525929.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHAC1_ENST00000253807.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018899.5|NM_031883.2	NP_061722.1|NP_114089.1	Q9Y5I4	PCDC2_HUMAN		508	Cadherin 5.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(10)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	45			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTACTCCCTTCTGGAGAG	0.488													T	140347873	C	T	140347873	3	4	601	1	0	0	0	0	1	0	0	0	11609	681	24	2	1524	2	PCDHAC2	5	140347873	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	129599508	140347873	40567387	17	50255											
RNF145	153830	broad.mit.edu	37	chr5	158601111	158601111	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccatgaaaagaacagggactAccagttgattccacagggac	15	6	10	10	0	0	3	0	2	0	1	1	5	1	5	3	2	2	1	3	2	4	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr5:158601111A>C	ENST00000424310.2	-	6	1036	c.677T>G	c.(676-678)gTa>gGa	p.V226G	RNF145_ENST00000519865.1_Missense_Mutation_p.V226G|RNF145_ENST00000521606.2_Missense_Mutation_p.V243G|RNF145_ENST00000518802.1_Missense_Mutation_p.V256G|RNF145_ENST00000520638.1_Missense_Mutation_p.V240G|RNF145_ENST00000274542.2_Missense_Mutation_p.V254G	NM_001199383.1	NP_001186312.1	Q96MT1	RN145_HUMAN	ring finger protein 145	226						integral to membrane	zinc ion binding			endometrium(7)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30	Renal(175;0.00196)	Medulloblastoma(196;0.0523)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AACAGGGACTACCAGTTGATT	0.433													C	158601111	A	C	158601111	3	2	601	1	0	0	0	0	1	0	0	0	13538	391	14	5	1338	5	RNF145	5	158601111	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	18253238	158601111	22314149	18	50256											
ARID1B	57492	broad.mit.edu	37	chr6	157522460	157522460	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtctccttttctgccgtctAtgaagatgcagaaggtcatg	9	13	10	9	1	4	3	1	1	3	2	5	3	4	3	2	1	2	1	2	1	3	3	rs139214813		TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr6:157522460A>G	ENST00000346085.5	+	18	4733	c.4732A>G	c.(4732-4734)Atg>Gtg	p.M1578V	ARID1B_ENST00000350026.5_Missense_Mutation_p.M1565V|ARID1B_ENST00000275248.4_Missense_Mutation_p.M1560V|ARID1B_ENST00000367148.1_Missense_Mutation_p.M1618V	NM_020732.3	NP_065783.3	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1565	Pro-rich.				chromatin-mediated maintenance of transcription|nervous system development|transcription, DNA-dependent	SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		TCTGCCGTCTATGAAGATGCA	0.602													G	157522460	A	G	157522460	3	3	601	1	0	0	0	0	1	0	0	0	917	449	16	3	4802	3	ARID1B	6	157522460	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		157522460	13592607	19	50257											
ADCY1	107	broad.mit.edu	37	chr7	45717491	45717491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggcattaagaacagcctcGgaaaaactcagaaaccgctc	16	5	9	11	2	1	2	1	0	0	2	3	3	1	3	2	2	4	2	2	2	5	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:45717491G>A	ENST00000297323.7	+	9	1651	c.1629G>A	c.(1627-1629)tcG>tcA	p.S543S		NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	543					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	GAACAGCCTCGGAAAAACTCA	0.498													A	45717491	G	A	45717491	2	1	601	1	0	0	0	0	0	0	0	1	292	1103	39	1		1	ADCY1	7	45717491	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		45717491	113421172	20	50258											
TAS2R41	259287	broad.mit.edu	37	chr7	143175752	143175752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatttatctccatgcagaacGacttttactggccatggcaa	12	12	7	10	1	1	1	0	0	1	1	2	2	1	1	2	2	3	2	2	2	5	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr7:143175752G>A	ENST00000408916.1	+	1	787	c.787G>A	c.(787-789)Gac>Aac	p.D263N	EPHA1-AS1_ENST00000429289.1_RNA	NM_176883.2	NP_795364.2	P59536	T2R41_HUMAN	taste receptor, type 2, member 41	263					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			endometrium(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(2)|skin(1)	18	Melanoma(164;0.15)					CATGCAGAACGACTTTTACTG	0.473													A	143175752	G	A	143175752	3	1	601	1	0	0	0	0	1	0	0	0	15676	1058	37	1	789	1	TAS2R41	7	143175752	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	97458261	143175752	15962911	21	50259											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																										TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	RP11-3L8.3_ENST00000417638.1_RNA|TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				-	12702414	ACAA	-	12702411	7	5	601	1	0	1	0	1	0	0	0	0	16918	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-HT-A614-01A-11D-A29Q-08		12702411	128511020	22	50260											
PPP6C	5537	broad.mit.edu	37	chr9	127933438	127933438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgactcttctaagaggaggtCacaaacgtagtcacatagcc	13	9	9	10	1	4	2	2	1	2	1	4	3	4	3	1	2	2	1	1	2	4	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:127933438C>T	ENST00000451402.1	-	3	428	c.208G>A	c.(208-210)Gac>Aac	p.D70N	PPP6C_ENST00000373546.3_5'UTR|PPP6C_ENST00000373547.4_Missense_Mutation_p.D33N|PPP6C_ENST00000415905.1_Missense_Mutation_p.D33N	NM_001123355.1	NP_001116827.1	O00743	PPP6_HUMAN	protein phosphatase 6, catalytic subunit	33					G1/S transition of mitotic cell cycle|protein dephosphorylation	cytosol	metal ion binding|protein binding|protein serine/threonine phosphatase activity			NS(2)|endometrium(1)|large_intestine(4)|liver(1)|lung(2)|ovary(1)|skin(3)	14						AAGAGGAGGTCACAAACGTAG	0.328													T	127933438	C	T	127933438	3	4	601	1	0	0	0	0	1	0	0	0	12489	826	29	2	844	2	PPP6C	9	127933438	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	115231027	127933438	13279993	23	50261											
NUP188	23511	broad.mit.edu	37	chr9	131768629	131768629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaaacagcggatgaagcaGgagctcagctctgagttggt	12	7	14	8	1	2	2	1	2	1	0	2	5	2	4	0	3	5	4	0	3	2	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr9:131768629G>A	ENST00000372577.2	+	43	5076	c.5055G>A	c.(5053-5055)caG>caA	p.Q1685Q		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	1685					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						GGATGAAGCAGGAGCTCAGCT	0.592											OREG0019528	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	131768629	G	A	131768629	2	1	601	1	0	0	0	0	0	0	0	1	10834	991	35	2		2	NUP188	9	131768629	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	3835191	131768629	9444802	24	50262											
KIAA1462	57608	broad.mit.edu	37	chr10	30318281	30318281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtggagtccaaatttggtgCgcaagtgggaggatacggtg	9	9	17	6	3	0	0	0	0	0	0	1	3	1	3	1	5	2	1	1	5	3	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:30318281C>T	ENST00000375377.1	-	3	897	c.796G>A	c.(796-798)Gca>Aca	p.A266T		NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN	KIAA1462	266	Pro-rich.									breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						AAATTTGGTGCGCAAGTGGGA	0.522													T	30318281	C	T	30318281	3	4	601	1	0	0	0	0	1	0	0	0	8292	768	27	1	3291	1	KIAA1462	10	30318281	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		30318281	105216466	25	50263											
HK1	3098	broad.mit.edu	37	chr10	71160766	71160766	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctccagaatcatgcacCagacggtgaaggaactgtca	12	8	10	11	1	3	3	2	1	1	2	4	4	3	4	2	2	2	2	2	2	3	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr10:71160766C>T	ENST00000448642.2	+	23	3123	c.2734C>T	c.(2734-2736)Cag>Tag	p.Q912*	HK1_ENST00000298649.3_Nonsense_Mutation_p.Q876*|HK1_ENST00000360289.2_Nonsense_Mutation_p.Q865*|HK1_ENST00000359426.6_Nonsense_Mutation_p.Q877*|HK1_ENST00000404387.2_Nonsense_Mutation_p.Q881*			P19367	HXK1_HUMAN	hexokinase 1	877	Catalytic.				glucose transport|glycolysis|transmembrane transport	cytosol|mitochondrial outer membrane|nucleus	ATP binding|glucokinase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(1)|urinary_tract(2)	35						AATCATGCACCAGACGGTGAA	0.552													T	71160766	C	T	71160766	4	4	601	1	0	0	0	0	0	1	0	0	7245	595	21	2	2877	2	HK1	10	71160766	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	40842485	71160766	64373981	26	50264											
AMBRA1	55626	broad.mit.edu	37	chr11	46431879	46431879	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagtgaagaccgtctcgttCagctggtcccagtagtactc	9	10	10	12	2	2	2	1	1	1	1	5	2	3	2	2	1	2	4	2	1	3	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:46431879C>G	ENST00000458649.2	-	16	3574	c.3156G>C	c.(3154-3156)ctG>ctC	p.L1052L	AMBRA1_ENST00000534300.1_Silent_p.L992L|AMBRA1_ENST00000426438.1_Silent_p.L1023L|AMBRA1_ENST00000528950.1_Silent_p.L1023L|AMBRA1_ENST00000298834.3_Silent_p.L992L|AMBRA1_ENST00000533727.1_Silent_p.L933L|AMBRA1_ENST00000314845.3_Silent_p.L962L			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	1052					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CCGTCTCGTTCAGCTGGTCCC	0.532													G	46431879	C	G	46431879	2	3	601	1	0	0	0	0	0	0	0	1	565	813	29	4		4	AMBRA1	11	46431879	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		46431879	88574637	27	50265											
FNBP4	23360	broad.mit.edu	37	chr11	47753113	47753113	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaataccgtctatgatcCctaaattacaagaaagaaaa	20	9	5	7	1	1	4	0	1	1	3	2	4	2	4	2	0	2	0	2	0	11	5			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:47753113C>T	ENST00000263773.5	-	12	1833	c.1821G>A	c.(1819-1821)agG>agA	p.R607R		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	607	WW 2.									NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						GTCTATGATCCCTAAATTACA	0.438													T	47753113	C	T	47753113	5	4	601	1	0	0	0	0	0	0	1	0	6016	637	22	2	1256	2	FNBP4	11	47753113	Splice_Site	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	1321234	47753113	87253403	28	50266											
OR4C13	283092	broad.mit.edu	37	chr11	49974773	49974773	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagctactttacccattgatAaagcagttgctgtattctac	11	14	6	10	0	1	1	0	1	1	0	1	1	1	1	1	0	6	5	1	0	6	9			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:49974773A>G	ENST00000555099.1	+	1	831	c.799A>G	c.(799-801)Aaa>Gaa	p.K267E		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ACCCATTGATAAAGCAGTTGC	0.393													G	49974773	A	G	49974773	3	3	601	1	0	0	0	0	1	0	0	0	11123	363	13	3	801	3	OR4C13	11	49974773	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08	2221660	49974773	85031743	29	50267											
MS4A3	932	broad.mit.edu	37	chr11	59831748	59831748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaacagttctgtagttcagGaaccttgtctgttgtagcag	10	13	10	8	0	3	0	1	0	2	0	3	1	3	1	1	1	3	6	1	1	4	6			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr11:59831748G>A	ENST00000278865.3	+	4	381	c.308G>A	c.(307-309)gGa>gAa	p.G103E	MS4A3_ENST00000534744.1_Missense_Mutation_p.G57E|MS4A3_ENST00000358152.2_Missense_Mutation_p.G57E|MS4A3_ENST00000395032.2_5'UTR	NM_006138.4	NP_006129.4	Q96HJ5	MS4A3_HUMAN	membrane-spanning 4-domains, subfamily A, member 3 (hematopoietic cell-specific)	103						endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding|receptor activity			endometrium(4)|kidney(2)|lung(9)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		all_epithelial(135;0.245)				TGTAGTTCAGGAACCTTGTCT	0.363													A	59831748	G	A	59831748	3	1	601	1	0	0	0	0	1	0	0	0	9937	1174	41	2	318	2	MS4A3	11	59831748	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	9856975	59831748	75174768	30	50268											
ARNTL2	56938	broad.mit.edu	37	chr12	27553705	27553705	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatttgtctatgtagatcaAaggtaaacatttacatgtta	16	15	6	4	0	2	1	1	0	1	1	2	1	2	1	0	1	2	3	0	1	8	7			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:27553705A>T	ENST00000544915.1	+	9	1275	c.1056A>T	c.(1054-1056)caA>caT	p.Q352H	RP11-165P7.1_ENST00000500498.2_RNA|ARNTL2_ENST00000266503.5_Missense_Mutation_p.Q386H|ARNTL2_ENST00000395901.2_Missense_Mutation_p.Q349H|ARNTL2_ENST00000546179.1_Missense_Mutation_p.Q349H|ARNTL2_ENST00000311001.5_Missense_Mutation_p.Q372H|ARNTL2_ENST00000261178.5_Missense_Mutation_p.Q338H|ARNTL2_ENST00000542388.1_Missense_Mutation_p.Q301H	NM_020183.4	NP_064568.3	Q8WYA1	BMAL2_HUMAN	aryl hydrocarbon receptor nuclear translocator-like 2	386					circadian rhythm|entrainment of circadian clock|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(1)|skin(2)|urinary_tract(1)	21	Colorectal(261;0.0847)|Lung SC(9;0.184)					ATGTAGATCAAAGGTAAACAT	0.323													T	27553705	A	T	27553705	3	4	601	1	0	0	0	0	1	0	0	0	973	11	1	5	1196	5	ARNTL2	12	27553705	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		27553705	106298190	31	50269											
DNAJC14	85406	broad.mit.edu	37	chr12	56222131	56222131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttcttttgagagttcctgGtccactcctgattcttcttc	4	20	6	11	0	3	2	0	2	3	1	7	3	6	2	3	1	0	1	3	1	0	8			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:56222131G>T	ENST00000357606.3	-	3	601	c.312C>A	c.(310-312)gaC>gaA	p.D104E	DNAJC14_ENST00000317269.3_Missense_Mutation_p.D104E|DNAJC14_ENST00000317287.5_Missense_Mutation_p.D104E			Q6Y2X3	DJC14_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 14	104					protein folding|protein transport	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|unfolded protein binding			breast(2)|kidney(1)|large_intestine(8)|lung(7)|ovary(3)|prostate(1)|skin(1)	23						AGAGTTCCTGGTCCACTCCTG	0.527													T	56222131	G	T	56222131	3	4	601	1	0	0	0	0	1	0	0	0	4672	1252	44	4	1820	4	DNAJC14	12	56222131	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	28668426	56222131	77629764	32	50270											
NCOR2	9612	broad.mit.edu	37	chr12	124810104	124810104	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcctgcagccgcatgatcagGgggttgtaggggaatggcgt	7	8	18	8	2	1	1	1	1	0	0	1	2	1	2	2	5	2	4	2	5	2	2			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr12:124810104G>A	ENST00000356219.3	-	48	7565	c.7410C>T	c.(7408-7410)ccC>ccT	p.P2470P	NCOR2_ENST00000404621.1_Silent_p.P2407P|NCOR2_ENST00000397355.1_Silent_p.P2408P|NCOR2_ENST00000405201.1_Silent_p.P2463P|NCOR2_ENST00000429285.2_Silent_p.P2453P|NCOR2_ENST00000404121.2_Silent_p.P2024P	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2474					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GCATGATCAGGGGGTTGTAGG	0.721													A	124810104	G	A	124810104	2	1	601	1	0	0	0	0	0	0	0	1	10312	1219	43	2		2	NCOR2	12	124810104	Silent	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	68587973	124810104	9041791	33	50271											
AKAP13	11214	broad.mit.edu	37	chr15	86076938	86076938	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgtatgatgcagctcaatTcctagcaaccagtgctggaa	12	9	10	10	1	1	1	1	1	0	0	2	2	2	2	2	1	6	5	2	1	5	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr15:86076938T>C	ENST00000394518.2	+	4	400	c.305T>C	c.(304-306)tTc>tCc	p.F102S	AKAP13_ENST00000560302.1_Missense_Mutation_p.F102S|AKAP13_ENST00000361243.2_Missense_Mutation_p.F102S	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	102					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GCAGCTCAATTCCTAGCAACC	0.493													C	86076938	T	C	86076938	3	2	601	1	0	0	0	0	1	0	0	0	449	1783	62	3	315	3	AKAP13	15	86076938	Missense_Mutation	SNP	T	TCGA-HT-A614-01A-11D-A29Q-08		86076938	16454454	34	50272											
USP10	9100	broad.mit.edu	37	chr16	84778248	84778248	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctaaacaggacaagaatAtcagagaattgagtttggtg	15	12	10	4	0	2	3	1	1	1	2	2	5	2	4	0	2	1	1	0	2	6	5			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr16:84778248A>G	ENST00000219473.7	+	4	274	c.161A>G	c.(160-162)tAt>tGt	p.Y54C	USP10_ENST00000562743.1_3'UTR|USP10_ENST00000570191.1_Missense_Mutation_p.Y58C	NM_001272075.1|NM_005153.2	NP_001259004.1|NP_005144.2	Q14694	UBP10_HUMAN	ubiquitin specific peptidase 10	54	Interaction with p53/TP53.				DNA damage response, signal transduction by p53 class mediator|DNA repair|protein deubiquitination|ubiquitin-dependent protein catabolic process	early endosome|intermediate filament cytoskeleton|nucleus	cystic fibrosis transmembrane conductance regulator binding|p53 binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(3)|prostate(1)|stomach(1)|urinary_tract(1)	17						GGACAAGAATATCAGAGAATT	0.393													G	84778248	A	G	84778248	3	3	601	1	0	0	0	0	1	0	0	0	17143	449	16	3	175	3	USP10	16	84778248	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		84778248	5576505	35	50273											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273L|TP53_ENST00000455263.2_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577120	C	A	7577120	3	1	601	1	0	0	0	0	1	0	0	0	16482	536	19	4	468	4	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		7577120	73618090	36	50274											
MYH4	4622	broad.mit.edu	37	chr17	10370011	10370011	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctccttttcagactttcGgaggaaaggagcagcctccc	8	10	10	13	2	1	1	1	0	0	1	5	4	3	4	3	3	2	2	3	3	1	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:10370011G>A	ENST00000255381.2	-	3	162	c.52C>T	c.(52-54)Cga>Tga	p.R18*	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	18	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCAGACTTTCGGAGGAAAGGA	0.478													A	10370011	G	A	10370011	4	1	601	1	0	0	0	0	0	1	0	0	10113	1124	39	1	5919	1	MYH4	17	10370011	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	2792891	10370011	70825199	37	50275											
PIGS	94005	broad.mit.edu	37	chr17	26890508	26890508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcagggagccctccgcttGttcctgaggctcatctaaca	8	10	10	13	1	3	1	2	1	1	0	5	2	5	2	3	2	2	3	3	2	1	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:26890508G>T	ENST00000308360.7	-	5	784	c.409C>A	c.(409-411)Caa>Aaa	p.Q137K	PIGS_ENST00000395346.2_Missense_Mutation_p.Q129K|PIGS_ENST00000465444.1_5'UTR|PIGS_ENST00000543734.1_Missense_Mutation_p.Q76K	NM_033198.3	NP_149975.1	Q96S52	PIGS_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class S	137					attachment of GPI anchor to protein|C-terminal protein lipidation	GPI-anchor transamidase complex	protein binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	Lung NSC(42;0.00431)					CCCTCCGCTTGTTCCTGAGGC	0.527													T	26890508	G	T	26890508	3	4	601	1	0	0	0	0	1	0	0	0	11975	1386	48	4	1290	4	PIGS	17	26890508	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	16520497	26890508	54304702	38	50276											
CSF3	1440	broad.mit.edu	37	chr17	38172560	38172560	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgggcatcccctgggctccCctgagcagctgccccagcca	5	6	11	19	0	0	1	0	1	0	0	2	1	2	1	7	2	4	4	7	2	0	0			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:38172560C>T	ENST00000331769.2	+	2	474	c.258C>T	c.(256-258)ccC>ccT	p.P86P	CSF3_ENST00000394148.3_Intron|CSF3_ENST00000225474.2_Silent_p.P93P|CSF3_ENST00000577675.1_Intron|CSF3_ENST00000394149.3_Silent_p.P90P			P09919	CSF3_HUMAN	colony stimulating factor 3 (granulocyte)	93					cytokine-mediated signaling pathway|granulocyte differentiation|immune response|positive regulation of cell proliferation	extracellular space	cytokine activity|enzyme binding|granulocyte colony-stimulating factor receptor binding|growth factor activity			endometrium(1)|ovary(1)|prostate(1)	3	Colorectal(19;0.000442)	Myeloproliferative disorder(1115;0.0255)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	CCTGGGCTCCCCTGAGCAGCT	0.632													T	38172560	C	T	38172560	2	4	601	1	0	0	0	0	0	0	0	1	3969	610	22	2		2	CSF3	17	38172560	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	11282052	38172560	43022650	39	50277											
CD300LF	146722	broad.mit.edu	37	chr17	72699245	72699245	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgactggtgctgtaaaCgtagtggaggtaggcgtggt	7	11	19	4	2	0	1	0	1	0	0	0	2	0	2	0	6	2	4	0	6	4	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr17:72699245C>G	ENST00000361254.4	-	3	428	c.429G>C	c.(427-429)acG>acC	p.T143T	CD300LF_ENST00000301573.9_Intron|RAB37_ENST00000402449.4_Intron|CD300LF_ENST00000343125.4_Intron|CD300LF_ENST00000326165.6_Intron|CD300LF_ENST00000581500.1_Silent_p.T143T|RAB37_ENST00000340415.3_Intron|CD300LF_ENST00000469092.1_Intron|CD300LF_ENST00000583937.1_Silent_p.T140T|CD300LF_ENST00000464910.1_Intron			Q8TDQ1	CLM1_HUMAN	CD300 molecule-like family member f	127						integral to membrane|plasma membrane	receptor activity			endometrium(2)|large_intestine(1)|lung(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	12						GTGCTGTAAACGTAGTGGAGG	0.572													G	72699245	C	G	72699245	2	3	601	1	0	0	0	0	0	0	0	1	3031	551	19	4		4	CD300LF	17	72699245	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	34526685	72699245	8495965	40	50278											
ANKRD30B	374860	broad.mit.edu	37	chr18	14779986	14779986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttcccatcagaatccaaacGagaggaagatgaagaatatt	17	8	9	7	1	1	5	1	1	0	4	3	7	3	6	2	1	1	1	2	1	6	3	rs76927023	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr18:14779986G>A	ENST00000358984.4	+	11	1628	c.1448G>A	c.(1447-1449)cGa>cAa	p.R483Q	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.R483Q	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	483										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						GAATCCAAACGAGAGGAAGAT	0.284													A	14779986	G	A	14779986	3	1	601	1	0	0	0	0	1	0	0	0	659	1058	37	1	1490	1	ANKRD30B	18	14779986	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		14779986	63297262	41	50279											
SMARCA4	6597	broad.mit.edu	37	chr19	11095998	11095998	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcggacgacccgcgctacaAccagatgaaaggaatgggga	13	4	14	10	4	0	2	0	1	0	1	1	6	0	5	2	4	2	1	2	4	4	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:11095998A>G	ENST00000358026.2	+	3	556	c.272A>G	c.(271-273)aAc>aGc	p.N91S	SMARCA4_ENST00000589677.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000450717.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000429416.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000590574.1_Missense_Mutation_p.N91S|SMARCA4_ENST00000541122.2_Missense_Mutation_p.N91S|SMARCA4_ENST00000344626.4_Missense_Mutation_p.N91S|SMARCA4_ENST00000413806.3_Missense_Mutation_p.N91S|SMARCA4_ENST00000444061.3_Missense_Mutation_p.N91S	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	91	Necessary for interaction with SS18L1/CREST (By similarity).				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGCGCTACAACCAGATGAAA	0.632			"F, N, Mis"		NSCLC								G	11095998	A	G	11095998	3	3	601	1	0	0	0	0	1	0	0	0	14864	43	2	3	278	3	SMARCA4	19	11095998	Missense_Mutation	SNP	A	TCGA-HT-A614-01A-11D-A29Q-08		11095998	48032985	42	50280											
SCAF1	58506	broad.mit.edu	37	chr19	50154597	50154597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaggacttcccaggtgaCgagagcccccgcccggacgc	8	3	13	17	4	0	2	0	1	0	1	1	5	1	4	5	3	2	0	5	3	0	1			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:50154597C>T	ENST00000360565.3	+	7	1075	c.951C>T	c.(949-951)gaC>gaT	p.D317D		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	317					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TCCCAGGTGACGAGAGCCCCC	0.697													T	50154597	C	T	50154597	2	4	601	1	0	0	0	0	0	0	0	1	13960	535	19	1		1	SCAF1	19	50154597	Silent	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08	39058599	50154597	8974386	43	50281											
KLK15	55554	broad.mit.edu	37	chr19	51330985	51330985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagcgccacagttaaagcGtccacgctcgtagagagcca	12	5	12	12	4	0	1	0	0	0	1	2	3	1	2	3	1	3	3	3	1	4	2	rs140896741	byFrequency	TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr19:51330985G>A	ENST00000326856.4	-	3	256	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	KLK15_ENST00000301421.2_Missense_Mutation_p.R44C|KLK15_ENST00000416184.1_Missense_Mutation_p.R44C|KLK15_ENST00000596931.1_Missense_Mutation_p.R43C|KLK15_ENST00000598239.1_Missense_Mutation_p.R44C	NM_001277081.1	NP_001264010.1	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	44	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		CAGTTAAAGCGTCCACGCTCG	0.612													A	51330985	G	A	51330985	3	1	601	1	0	0	0	0	1	0	0	0	8461	1145	40	1	656	1	KLK15	19	51330985	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	1176388	51330985	7797998	44	50282											
EIF2S2	8894	broad.mit.edu	37	chr20	32684527	32684527	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcctactcggacgacttgtgGaggtttcatgacaaatttcc	9	13	9	10	2	1	1	1	1	0	0	4	4	3	3	2	3	1	1	2	3	2	4			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr20:32684527G>C	ENST00000374980.2	-	6	840	c.619C>G	c.(619-621)Cca>Gca	p.P207A		NM_003908.3	NP_003899.2	P20042	IF2B_HUMAN	eukaryotic translation initiation factor 2, subunit 2 beta, 38kDa	207						cytosol|eukaryotic translation initiation factor 2 complex	metal ion binding|protein binding|translation initiation factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	11						ACGACTTGTGGAGGTTTCATG	0.388													C	32684527	G	C	32684527	3	2	601	1	0	0	0	0	1	0	0	0	5049	1174	41	4	398	4	EIF2S2	20	32684527	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		32684527	30340993	45	50283											
UBE2G2	7327	broad.mit.edu	37	chr21	46207992	46207992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctgctacaattccttccGgaggattcagtgttaattct	9	15	7	10	1	2	0	1	0	1	0	4	2	4	2	3	2	3	2	3	2	4	7			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chr21:46207992G>A	ENST00000345496.2	-	2	332	c.62C>T	c.(61-63)cCg>cTg	p.P21L	UBE2G2_ENST00000477954.1_5'UTR|UBE2G2_ENST00000330942.5_5'UTR	NM_003343.5	NP_003334.2	P60604	UB2G2_HUMAN	ubiquitin-conjugating enzyme E2G 2	21					protein K48-linked ubiquitination	cytosol	ATP binding|protein binding|ubiquitin-protein ligase activity			breast(3)|central_nervous_system(1)|lung(1)	5				Colorectal(79;0.0638)		AATTCCTTCCGGAGGATTCAG	0.269													A	46207992	G	A	46207992	3	1	601	1	0	0	0	0	1	0	0	0	16959	1116	39	1	455	1	UBE2G2	21	46207992	Missense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08		46207992	1921903	46	50284											
FAAH2	158584	broad.mit.edu	37	chrX	57358192	57358192	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtaacaagatctatggcCgatcaaacaacccatatgat	16	8	6	11	1	2	2	1	1	1	1	2	3	2	2	3	1	3	1	3	1	6	3			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:57358192C>T	ENST00000374900.4	+	4	694	c.574C>T	c.(574-576)Cga>Tga	p.R192*		NM_174912.3	NP_777572.2	Q6GMR7	FAAH2_HUMAN	fatty acid amide hydrolase 2	192						integral to membrane	carbon-nitrogen ligase activity, with glutamine as amido-N-donor|hydrolase activity			endometrium(2)|large_intestine(4)|lung(10)|ovary(3)|upper_aerodigestive_tract(3)	22						GATCTATGGCCGATCAAACAA	0.403										HNSCC(52;0.14)			T	57358192	C	T	57358192	4	4	601	1	0	0	0	0	0	1	0	0	5399	644	23	1	588	1	FAAH2	23	57358192	Nonsense_Mutation	SNP	C	TCGA-HT-A614-01A-11D-A29Q-08		57358192	97912368	47	50285											
ATRX	546	broad.mit.edu	37	chrX	76938920	76938920	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatagccatctttatcttGtggaacttcctgacaatcag	10	16	6	9	0	3	1	1	1	2	0	4	2	4	2	2	1	2	0	2	1	5	7			TCGA-HT-A614-01A-11D-A29Q-08	TCGA-HT-A614-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8c8f66c-25bc-4dea-9ac2-6cafdd75a489	f812a450-4c23-4684-bb9d-b2db9a185156	g.chrX:76938920G>A	ENST00000373344.5	-	9	2042	c.1828C>T	c.(1828-1830)Caa>Taa	p.Q610*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q572*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	610					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)	TCTTTATCTTGTGGAACTTCC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938920	G	A	76938920	4	1	601	1	0	0	0	0	0	1	0	0	1213	1386	48	2	5758	2	ATRX	23	76938920	Nonsense_Mutation	SNP	G	TCGA-HT-A614-01A-11D-A29Q-08	19580728	76938920	78331640	48	50286											
SPEN	23013	broad.mit.edu	37	chr1	16174599	16174599	+	Frame_Shift_Del	DEL	T	T	-																															ggcatctctgggtgggcaacTtacccgagaacgtgcgggaa																										TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:16174599delT	ENST00000375759.3	+	1	241	c.37delT	c.(37-39)ttafs	p.L13fs	RP11-169K16.9_ENST00000317122.1_RNA	NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	13	RRM 1.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGTGGGCAACTTACCCGAGAA	0.687													-	16174599	T	-	16174599	7	5	602	1	0	1	0	1	0	0	0	0	15134	1606	56	0	39	0	SPEN	1	16174599	Frame_Shift_Del	DEL	T	TCGA-HT-A615-01A-11D-A29Q-08		16174599	233076022	1	50287											
FUBP1	8880	broad.mit.edu	37	chr1	78444597	78444597	+	Frame_Shift_Del	DEL	A	A	-																															ctctctgcagtgcatctttgAaagcgtcgttaactcctcca																										TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:78444597delA	ENST00000370767.1	-	1	179	c.92delT	c.(91-93)ttcfs	p.F31fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F31fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F31fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	31					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGCATCTTTGAAAGCGTCGTT	0.612			"F, N"		oligodendroglioma								-	78444597	A	-	78444597	7	5	602	1	0	1	0	1	0	0	0	0	6144	246	9	0	1922	0	FUBP1	1	78444597	Frame_Shift_Del	DEL	A	TCGA-HT-A615-01A-11D-A29Q-08	62269998	78444597	170806024	2	50288											
INTS3	65123	broad.mit.edu	37	chr1	153730172	153730172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggggtagtccacccttctaAtgaagtactgagttcagata	11	12	10	8	0	2	3	1	2	1	1	3	3	3	3	2	2	1	3	2	2	5	6			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:153730172A>G	ENST00000456435.1	+	10	1650	c.464A>G	c.(463-465)aAt>aGt	p.N155S	INTS3_ENST00000476843.1_3'UTR|INTS3_ENST00000435409.2_Missense_Mutation_p.N361S|INTS3_ENST00000512605.1_Missense_Mutation_p.N155S|INTS3_ENST00000318967.2_Missense_Mutation_p.N361S			Q68E01	INT3_HUMAN	integrator complex subunit 3	362					DNA repair|G2/M transition checkpoint|response to ionizing radiation|snRNA processing	integrator complex|SOSS complex	protein binding			breast(1)|cervix(4)|endometrium(10)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CACCCTTCTAATGAAGTACTG	0.527													G	153730172	A	G	153730172	3	3	602	1	0	0	0	0	1	0	0	0	7837	101	4	3	1120	3	INTS3	1	153730172	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	75285575	153730172	95520449	3	50289											
SPTA1	6708	broad.mit.edu	37	chr1	158612230	158612230	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcattgccatcacaagCgctacactcaatcagggagt	11	10	7	13	1	5	0	4	0	1	0	5	1	5	1	1	1	3	1	1	1	3	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:158612230C>T	ENST00000368147.4	-	33	4888	c.4708G>A	c.(4708-4710)Gct>Act	p.A1570T		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)					Missing (in Ref. 1; AAA60577/AAA60994 and 7; AAA60569).	actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCATCACAAGCGCTACACTCA	0.453													T	158612230	C	T	158612230	3	4	602	1	0	0	0	0	1	0	0	0	15212	768	27	1	2631	1	SPTA1	1	158612230	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4882058	158612230	90638391	4	50290											
HMCN1	83872	broad.mit.edu	37	chr1	186106054	186106054	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gttctgtccttgtcagagtgCcagtcatagtccagggtgag	7	12	13	9	0	3	2	2	1	1	1	5	2	5	2	3	1	1	1	3	1	1	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:186106054C>T	ENST00000271588.4	+	87	13796	c.13567C>T	c.(13567-13569)Cca>Tca	p.P4523S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P4523S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4523	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCAGAGTGCCAGTCATAGT	0.398													T	186106054	C	T	186106054	3	4	602	1	0	0	0	0	1	0	0	0	7275	739	26	2	13913	2	HMCN1	1	186106054	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	27493824	186106054	63144567	5	50291											
CDC73	79577	broad.mit.edu	37	chr1	193111017	193111017	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtcagtggaaaaaattgctGcaatcaaagccaaaattatg	17	10	8	6	0	2	0	2	0	0	0	2	1	2	1	1	1	3	2	1	1	8	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:193111017G>C	ENST00000367435.3	+	7	734	c.550G>C	c.(550-552)Gca>Cca	p.A184P		NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	184				AIKA -> CNQT (in Ref. 2; BAB15608).	cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AAAAATTGCTGCAATCAAAGC	0.348													C	193111017	G	C	193111017	3	2	602	1	0	0	0	0	1	0	0	0	3115	1319	46	4	576	4	CDC73	1	193111017	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	7004963	193111017	56139604	6	50292											
URB2	9816	broad.mit.edu	37	chr1	229772950	229772950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaaagctggacccgaaggtAtagaacctagaggagaaatt	17	6	11	7	1	0	3	0	0	0	3	0	6	0	4	2	3	2	2	2	3	8	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr1:229772950A>G	ENST00000258243.2	+	4	2726	c.2590A>G	c.(2590-2592)Ata>Gta	p.I864V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	864						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						ACCCGAAGGTATAGAACCTAG	0.502													G	229772950	A	G	229772950	3	3	602	1	0	0	0	0	1	0	0	0	17127	449	16	3	2600	3	URB2	1	229772950	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	36661933	229772950	19477671	7	50293											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	602	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		209113112	34086261	8	50294											
STK36	27148	broad.mit.edu	37	chr2	219544418	219544418	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtctcgcatcttgactcaggCctataaacgcatggctgagg	9	10	11	11	2	3	2	1	2	2	0	4	2	3	2	1	3	1	3	1	3	3	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:219544418C>T	ENST00000295709.3	+	8	1193	c.914C>T	c.(913-915)gCc>gTc	p.A305V	STK36_ENST00000392105.3_Missense_Mutation_p.A305V|STK36_ENST00000440309.1_Missense_Mutation_p.A305V|STK36_ENST00000392106.2_Missense_Mutation_p.A305V	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN	serine/threonine kinase 36	305					cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding			biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		TTGACTCAGGCCTATAAACGC	0.557													T	219544418	C	T	219544418	3	4	602	1	0	0	0	0	1	0	0	0	15398	739	26	2	940	2	STK36	2	219544418	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10431306	219544418	23654955	9	50295											
ARMC9	80210	broad.mit.edu	37	chr2	232135764	232135764	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acatggccaggctcatcaatGcttttgcgtcactggcagaa	10	10	10	11	1	3	1	3	0	0	1	3	1	3	1	1	3	2	3	1	3	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr2:232135764G>C	ENST00000349938.4	+	13	1383	c.1189G>C	c.(1189-1191)Gct>Cct	p.A397P	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	397							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		GCTCATCAATGCTTTTGCGTC	0.493													C	232135764	G	C	232135764	3	2	602	1	0	0	0	0	1	0	0	0	963	1319	46	4	1235	4	ARMC9	2	232135764	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	12591346	232135764	11063609	10	50296											
CD96	10225	broad.mit.edu	37	chr3	111319659	111319659	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caagggtacatagtaataaaCcagcccaatcagacaacttg	17	7	7	10	0	1	1	1	0	0	1	1	1	1	1	2	1	4	2	2	1	8	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:111319659C>T	ENST00000352690.4	+	7	1225	c.985C>T	c.(985-987)Cca>Tca	p.P329S	CD96_ENST00000283285.5_Missense_Mutation_p.P345S|CD96_ENST00000438817.2_Missense_Mutation_p.P329S	NM_005816.4	NP_005807.1	P40200	TACT_HUMAN	CD96 molecule	345	Ig-like C2-type.				cell adhesion|immune response|regulation of immune response	integral to plasma membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(4)|liver(2)|lung(14)|skin(5)	35						TAGTAATAAACCAGCCCAATC	0.378									Opitz Trigonocephaly syndrome				T	111319659	C	T	111319659	3	4	602	1	0	0	0	0	1	0	0	0	3078	507	18	2	1063	2	CD96	3	111319659	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		111319659	86702771	11	50297											
PPM1L	151742	broad.mit.edu	37	chr3	160786805	160786805	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcagcaatgaagaagcagttCgattcatcaaggagcgcttg	13	9	11	8	2	3	2	3	1	0	1	4	4	3	3	0	1	3	4	0	1	4	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr3:160786805C>T	ENST00000498165.1	+	4	1044	c.943C>T	c.(943-945)Cga>Tga	p.R315*	PPM1L_ENST00000295839.9_Nonsense_Mutation_p.R188*|PPM1L_ENST00000464260.1_Nonsense_Mutation_p.R136*|PPM1L_ENST00000480117.1_3'UTR	NM_139245.2	NP_640338.2	Q5SGD2	PPM1L_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1L	315	PP2C-like.				protein dephosphorylation|sphingolipid metabolic process	endoplasmic reticulum membrane|integral to membrane|protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity	p.R315*(2)|p.R136*(2)		breast(1)|endometrium(1)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13			Lung(72;0.00149)|LUSC - Lung squamous cell carcinoma(72;0.00216)			AGAAGCAGTTCGATTCATCAA	0.473													T	160786805	C	T	160786805	4	4	602	1	0	0	0	0	0	1	0	0	12426	876	31	1	957	1	PPM1L	3	160786805	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	49467146	160786805	37235625	12	50298											
SLIT2	9353	broad.mit.edu	37	chr4	20618726	20618726	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccatggcacatgccaGcccagcagccaggcaggctt	8	6	12	15	0	0	0	0	0	0	0	0	0	0	0	4	3	5	4	4	3	0	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:20618726G>A	ENST00000504154.1	+	35	4293	c.4041G>A	c.(4039-4041)caG>caA	p.Q1347Q	SLIT2_ENST00000273739.5_Silent_p.Q1360Q|SLIT2_ENST00000503837.1_Silent_p.Q1343Q|SLIT2_ENST00000503823.1_Silent_p.Q1339Q	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1347	EGF-like 7.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GCACATGCCAGCCCAGCAGCC	0.577													A	20618726	G	A	20618726	2	1	602	1	0	0	0	0	0	0	0	1	14834	962	34	2		2	SLIT2	4	20618726	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		20618726	170535550	13	50299											
ATP8A1	10396	broad.mit.edu	37	chr4	42414962	42414962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcgggcctctgtttcgtggTatcatatgctcttatcactt	5	17	9	10	2	4	0	2	0	2	0	6	0	4	0	1	2	1	3	1	2	3	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:42414962T>C	ENST00000381668.5	-	37	3697	c.3466A>G	c.(3466-3468)Acc>Gcc	p.T1156A	ATP8A1_ENST00000264449.10_Missense_Mutation_p.T1141A	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	1156					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TGTTTCGTGGTATCATATGCT	0.463													C	42414962	T	C	42414962	3	2	602	1	0	0	0	0	1	0	0	0	1197	1638	57	3	32	3	ATP8A1	4	42414962	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08	21796236	42414962	148739314	14	50300											
FAT4	79633	broad.mit.edu	37	chr4	126373545	126373545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcaaagagatccttctcCggcagagtggagtaaaggtg	12	8	13	8	1	2	2	1	0	1	2	4	4	3	3	2	3	0	3	2	3	3	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr4:126373545C>T	ENST00000394329.3	+	9	11387	c.11374C>T	c.(11374-11376)Cgg>Tgg	p.R3792W	FAT4_ENST00000335110.5_Missense_Mutation_p.R2090W	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	3792					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GATCCTTCTCCGGCAGAGTGG	0.483													T	126373545	C	T	126373545	3	4	602	1	0	0	0	0	1	0	0	0	5741	643	23	1	11408	1	FAT4	4	126373545	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	83958583	126373545	64780731	15	50301											
TERT	7015	broad.mit.edu	37	chr5	1294250	1294250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccaggacccctgcccaaCgggcgtccgctccggctcag	5	4	13	19	4	1	0	1	0	0	0	3	1	3	1	6	4	2	2	6	4	1	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:1294250C>T	ENST00000310581.5	-	2	808	c.751G>A	c.(751-753)Gtt>Att	p.V251I	TERT_ENST00000334602.6_Missense_Mutation_p.V251I|TERT_ENST00000296820.5_Missense_Mutation_p.V251I|TERT_ENST00000508104.2_Missense_Mutation_p.V251I	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	251	Linker.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCCTGCCCAACGGGCGTCCGC	0.726									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				T	1294250	C	T	1294250	3	4	602	1	0	0	0	0	1	0	0	0	15864	536	19	1	2707	1	TERT	5	1294250	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		1294250	179621010	16	50302											
KIF4B	285643	broad.mit.edu	37	chr5	154395557	154395557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcagcagctgccaacaagcGactcaaggatgctctccaga	12	5	11	13	1	2	1	1	0	1	1	3	3	2	2	2	2	6	4	2	2	3	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr5:154395557G>A	ENST00000435029.4	+	1	2298	c.2138G>A	c.(2137-2139)cGa>cAa	p.R713Q		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	713	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity	p.G748V(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GCCAACAAGCGACTCAAGGAT	0.483													A	154395557	G	A	154395557	3	1	602	1	0	0	0	0	1	0	0	0	8362	1058	37	1	2140	1	KIF4B	5	154395557	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	153101307	154395557	26519703	17	50303											
GPRC6A	222545	broad.mit.edu	37	chr6	117130562	117130562	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctatgacagccttaactcttGgcatgtagctggaatagtca	11	12	9	9	0	2	1	1	1	1	0	2	2	2	2	1	2	3	3	1	2	5	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr6:117130562G>A	ENST00000310357.3	-	2	434	c.413C>T	c.(412-414)cCa>cTa	p.P138L	GPRC6A_ENST00000368549.3_Missense_Mutation_p.P138L|GPRC6A_ENST00000530250.1_Missense_Mutation_p.P138L	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	138					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		CTTAACTCTTGGCATGTAGCT	0.443													A	117130562	G	A	117130562	3	1	602	1	0	0	0	0	1	0	0	0	6783	1348	47	2	2387	2	GPRC6A	6	117130562	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		117130562	53984505	18	50304											
CLIP2	7461	broad.mit.edu	37	chr7	73770855	73770855	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agaccaagcgtatggccatgGgtgtgtcagcactgacccac	10	7	12	12	1	1	2	1	1	0	1	1	2	1	2	3	2	2	2	3	2	2	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr7:73770855G>A	ENST00000223398.6	+	5	1246	c.919G>A	c.(919-921)Ggt>Agt	p.G307S	CLIP2_ENST00000361545.5_Missense_Mutation_p.G307S|CLIP2_ENST00000395060.1_Missense_Mutation_p.G307S	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	307						microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TATGGCCATGGGTGTGTCAGC	0.617													A	73770855	G	A	73770855	3	1	602	1	0	0	0	0	1	0	0	0	3564	1232	43	2	933	2	CLIP2	7	73770855	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08		73770855	85367808	19	50305											
BLK	640	broad.mit.edu	37	chr8	11400849	11400849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggacgccccgccactgcCgcccctggtgagtgattgcc	6	6	12	17	3	0	2	0	2	0	0	0	3	0	3	7	2	2	0	7	2	1	1	rs142352008	byFrequency	TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr8:11400849C>T	ENST00000259089.4	+	2	708	c.116C>T	c.(115-117)cCg>cTg	p.P39L	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	39					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		CCGCCACTGCCGCCCCTGGTG	0.532													T	11400849	C	T	11400849	3	4	602	1	0	0	0	0	1	0	0	0	1450	652	23	1	118	1	BLK	8	11400849	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11400849	134963173	20	50306											
API5	8539	broad.mit.edu	37	chr11	43343605	43343605	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagaacgagcaattaaattCctttctacaaaacttaagac	18	10	5	8	1	1	2	0	0	1	2	2	4	2	2	1	0	4	1	1	0	8	5			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:43343605C>T	ENST00000378852.3	+	5	587	c.462C>T	c.(460-462)ttC>ttT	p.F154F	API5_ENST00000534695.1_Intron|API5_ENST00000455725.2_Silent_p.F143F|API5_ENST00000531273.1_Silent_p.F154F|API5_ENST00000420461.2_Silent_p.F100F|API5_ENST00000534600.1_Silent_p.F154F	NM_001142930.1|NM_006595.3	NP_001136402.1|NP_006586.1	Q9BZZ5	API5_HUMAN	apoptosis inhibitor 5	154					anti-apoptosis|apoptosis	cytoplasm|spliceosomal complex	fibroblast growth factor binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	20						CAATTAAATTCCTTTCTACAA	0.378													T	43343605	C	T	43343605	2	4	602	1	0	0	0	0	0	0	0	1	775	854	30	2		2	API5	11	43343605	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		43343605	91662911	21	50307											
CRY2	1408	broad.mit.edu	37	chr11	45891723	45891723	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tactgccctgtgggctttggCcgtcgcacggaccccagtgg	4	9	14	14	3	0	0	0	0	0	0	1	1	0	1	4	4	2	2	4	4	1	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:45891723C>T	ENST00000443527.2	+	8	1399	c.1377C>T	c.(1375-1377)ggC>ggT	p.G459G	CRY2_ENST00000417225.2_Silent_p.G377G	NM_021117.3	NP_066940.2	Q49AN0	CRY2_HUMAN	cryptochrome 2 (photolyase-like)	438	FAD-binding.|Required for inhibition of CLOCK-ARNTL- mediated transcription (By similarity).				DNA repair|protein-chromophore linkage|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	blue light photoreceptor activity|damaged DNA binding|DNA photolyase activity|nucleotide binding|protein binding|single-stranded DNA binding	p.G438G(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(2)	15						TGGGCTTTGGCCGTCGCACGG	0.587													T	45891723	C	T	45891723	2	4	602	1	0	0	0	0	0	0	0	1	3935	726	26	2		2	CRY2	11	45891723	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	2548118	45891723	89114793	22	50308											
OR4X1	390113	broad.mit.edu	37	chr11	48285528	48285528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtacacagctgttgtgctggGcaatggcctcattgtggtga	7	12	14	8	0	1	1	1	1	0	0	1	1	1	1	1	3	3	5	1	3	2	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:48285528G>A	ENST00000320048.1	+	1	116	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						GTTGTGCTGGGCAATGGCCTC	0.463													A	48285528	G	A	48285528	3	1	602	1	0	0	0	0	1	0	0	0	11160	1203	42	2	118	2	OR4X1	11	48285528	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	2393805	48285528	86720988	23	50309											
MYO7A	4647	broad.mit.edu	37	chr11	76873968	76873968	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaactacatcccccccAagaacaaccatgagacccag	15	3	5	18	1	0	2	0	1	0	2	1	3	1	2	6	0	4	0	6	0	5	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr11:76873968A>G	ENST00000409709.3	+	14	1896	c.1624A>G	c.(1624-1626)Aag>Gag	p.K542E	MYO7A_ENST00000409893.1_Missense_Mutation_p.K542E|MYO7A_ENST00000409619.2_Missense_Mutation_p.K531E|MYO7A_ENST00000458637.2_Missense_Mutation_p.K542E	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	542	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						CATCCCCCCCAAGAACAACCA	0.567													G	76873968	A	G	76873968	3	3	602	1	0	0	0	0	1	0	0	0	10158	131	5	3	1674	3	MYO7A	11	76873968	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	28588440	76873968	58132548	24	50310											
SSH1	54434	broad.mit.edu	37	chr12	109183011	109183011	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgttaaggatcccaaataTagcatcatcctgcaaggaag	14	11	8	8	0	1	0	1	0	0	0	3	2	3	2	2	2	2	3	2	2	6	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr12:109183011T>C	ENST00000326495.5	-	15	1996	c.1903A>G	c.(1903-1905)Ata>Gta	p.I635V	SSH1_ENST00000360239.3_Missense_Mutation_p.I323V	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	635					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATCCCAAATATAGCATCATCC	0.547													C	109183011	T	C	109183011	3	2	602	1	0	0	0	0	1	0	0	0	15280	1406	49	3	1250	3	SSH1	12	109183011	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		109183011	24668884	25	50311											
POSTN	10631	broad.mit.edu	37	chr13	38171320	38171320	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaaaaaaaaaagagacttaCgttttctgtccacagatgga	17	10	8	6	1	1	3	0	1	1	2	2	5	2	4	1	1	1	1	1	1	6	3			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr13:38171320C>T	ENST00000379747.4	-	2	336		c.e2+1		POSTN_ENST00000379742.4_Splice_Site|POSTN_ENST00000379749.4_Splice_Site|POSTN_ENST00000379743.4_Splice_Site|POSTN_ENST00000541179.1_Splice_Site|POSTN_ENST00000541481.1_Splice_Site	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor						cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		AAGAGACTTACGTTTTCTGTC	0.378													T	38171320	C	T	38171320	5	4	602	1	0	0	0	0	0	0	1	0	12336	550	19	1	2379	1	POSTN	13	38171320	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		38171320	76998558	26	50312											
SYNM	23336	broad.mit.edu	37	chr15	99673043	99673043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggttcctggagagacgCggacagtaggaatgaccagg	10	6	16	9	3	0	2	0	1	0	1	1	6	1	5	3	5	0	2	3	5	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr15:99673043C>T	ENST00000336292.6	+	5	4595	c.4475C>T	c.(4474-4476)gCg>gTg	p.A1492V	SYNM_ENST00000560674.1_Missense_Mutation_p.A895V|SYNM_ENST00000561323.1_3'UTR|SYNM_ENST00000328642.7_Missense_Mutation_p.A1180V	NM_145728.2	NP_663780.2	O15061	SYNEM_HUMAN	synemin, intermediate filament protein	1493	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						TGGAGAGACGCGGACAGTAGG	0.572													T	99673043	C	T	99673043	3	4	602	1	0	0	0	0	1	0	0	0	15552	768	27	1	4491	1	SYNM	15	99673043	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		99673043	2858349	27	50313											
PPL	5493	broad.mit.edu	37	chr16	4944606	4944606	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggtgtagctgtagcccCgcgagatcaggccctggcgg	6	6	17	12	3	1	1	1	0	0	1	1	2	1	1	3	4	2	4	3	4	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:4944606C>T	ENST00000345988.2	-	12	1345	c.1256G>A	c.(1255-1257)cGg>cAg	p.R419Q	PPL_ENST00000590782.2_Missense_Mutation_p.R417Q	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	419					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCTGTAGCCCCGCGAGATCAG	0.647													T	4944606	C	T	4944606	3	4	602	1	0	0	0	0	1	0	0	0	12416	652	23	1	4058	1	PPL	16	4944606	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		4944606	85410147	28	50314											
CDYL2	124359	broad.mit.edu	37	chr16	80718589	80718589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtccccattttccatcccGttctgagactttttcagggg	5	14	9	13	2	2	1	1	1	1	1	5	2	5	1	4	2	0	1	4	2	0	5	rs140729164		TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr16:80718589G>A	ENST00000570137.2	-	2	617	c.462C>T	c.(460-462)aaC>aaT	p.N154N	CDYL2_ENST00000562812.1_Silent_p.N154N|CDYL2_ENST00000566173.1_Silent_p.N154N|CDYL2_ENST00000563890.1_Silent_p.N154N|CDYL2_ENST00000562753.1_5'UTR	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TTTCCATCCCGTTCTGAGACT	0.532													A	80718589	G	A	80718589	2	1	602	1	0	0	0	0	0	0	0	1	3216	1136	40	1		1	CDYL2	16	80718589	Silent	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	75773983	80718589	9636164	29	50315											
MRM1	79922	broad.mit.edu	37	chr17	34958397	34958397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctcggctggagcttctgtTtggcatgaccccgtgtctcc	3	13	11	14	2	3	1	0	1	3	0	5	2	3	2	3	3	1	4	3	3	0	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr17:34958397T>C	ENST00000250156.7	+	1	397	c.158T>C	c.(157-159)tTt>tCt	p.F53S	MRM1_ENST00000585770.1_5'UTR	NM_024864.3	NP_079140.2	Q6IN84	MRM1_HUMAN	mitochondrial rRNA methyltransferase 1 homolog (S. cerevisiae)	53					RNA processing	mitochondrion	RNA binding|RNA methyltransferase activity			NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		GAGCTTCTGTTTGGCATGACC	0.692													C	34958397	T	C	34958397	3	2	602	1	0	0	0	0	1	0	0	0	9847	1841	64	3	160	3	MRM1	17	34958397	Missense_Mutation	SNP	T	TCGA-HT-A615-01A-11D-A29Q-08		34958397	46236813	30	50316											
CBLC	23624	broad.mit.edu	37	chr19	45284225	45284225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gcagagctgcacgcactcttCcccgggggaaagtactgtgg	8	7	14	12	2	1	1	0	0	1	1	2	2	2	2	2	3	3	5	2	3	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:45284225C>T	ENST00000270279.3	+	2	480	c.417C>T	c.(415-417)ttC>ttT	p.F139F	CBLC_ENST00000341505.4_Silent_p.F139F	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	139	4H.|Cbl-PTB.				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ACGCACTCTTCCCCGGGGGAA	0.617			M		AML								T	45284225	C	T	45284225	2	4	602	1	0	0	0	0	0	0	0	1	2728	854	30	2		2	CBLC	19	45284225	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		45284225	13844758	31	50317											
NLRP5	126206	broad.mit.edu	37	chr19	56515295	56515295	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaatcttcagaatcgacCacatgctctattccacagtt	14	11	5	11	1	3	2	1	0	2	2	5	3	4	2	2	0	1	2	2	0	4	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chr19:56515295C>T	ENST00000390649.3	+	2	276	c.276C>T	c.(274-276)acC>acT	p.T92T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	92	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CAGAATCGACCACATGCTCTA	0.453													T	56515295	C	T	56515295	2	4	602	1	0	0	0	0	0	0	0	1	10556	581	21	2		2	NLRP5	19	56515295	Silent	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	11231070	56515295	2613688	32	50318											
ARHGAP6	395	broad.mit.edu	37	chrX	11174686	11174686	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgagtaaatagtccaCgacatcaggatcggtctcta	11	12	8	10	2	4	1	1	1	3	0	7	3	5	2	1	2	0	1	1	2	4	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:11174686C>T	ENST00000337414.4	-	10	2742	c.1870G>A	c.(1870-1872)Gtg>Atg	p.V624M	ARHGAP6_ENST00000380732.3_Missense_Mutation_p.V656M|ARHGAP6_ENST00000380718.1_Missense_Mutation_p.V624M|ARHGAP6_ENST00000534860.1_Missense_Mutation_p.V449M|ARHGAP6_ENST00000380736.1_Missense_Mutation_p.V421M|ARHGAP6_ENST00000303025.6_Missense_Mutation_p.V421M|ARHGAP6_ENST00000413512.3_Missense_Mutation_p.V433M	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	624					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						AAATAGTCCACGACATCAGGA	0.443													T	11174686	C	T	11174686	3	4	602	1	0	0	0	0	1	0	0	0	890	536	19	1	1192	1	ARHGAP6	23	11174686	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08		11174686	144095874	33	50319											
GRPR	2925	broad.mit.edu	37	chrX	16142351	16142351	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacctgctcctcctaataaCgtgtgctccagtggatgcca	9	10	9	13	1	0	1	0	0	0	1	3	2	3	2	5	1	4	2	5	1	2	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:16142351C>T	ENST00000380289.2	+	1	673	c.275C>T	c.(274-276)aCg>aTg	p.T92M		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	92					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					CTCCTAATAACGTGTGCTCCA	0.488											OREG0019682	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	16142351	C	T	16142351	3	4	602	1	0	0	0	0	1	0	0	0	6863	536	19	1	277	1	GRPR	23	16142351	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	4967665	16142351	139128209	34	50320											
ZNF645	158506	broad.mit.edu	37	chrX	22291550	22291550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgaaaacaagttaccagcGcttcgcttgaaaaagttcgt	13	10	8	10	4	0	1	0	1	0	0	3	2	0	1	1	0	3	4	1	0	6	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:22291550G>A	ENST00000323684.1	+	1	486	c.442G>A	c.(442-444)Gct>Act	p.A148T		NM_152577.3	NP_689790.1	Q8N7E2	ZN645_HUMAN	zinc finger protein 645	148						intracellular	zinc ion binding			cervix(1)|endometrium(4)|large_intestine(8)|lung(9)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(1)	27						AGTTACCAGCGCTTCGCTTGA	0.438													A	22291550	G	A	22291550	3	1	602	1	0	0	0	0	1	0	0	0	18162	1087	38	1	444	1	ZNF645	23	22291550	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	6149199	22291550	132979010	35	50321											
GPR34	2857	broad.mit.edu	37	chrX	41555137	41555137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtatttctgggtattcaccGtaaaagaaattccattcaaa	14	14	6	7	1	3	1	2	0	1	1	4	1	4	1	2	1	0	3	2	1	6	7			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:41555137G>A	ENST00000378142.4	+	3	535	c.251G>A	c.(250-252)cGt>cAt	p.R84H	CASK_ENST00000378154.1_Intron|CASK_ENST00000442742.2_Intron|CASK_ENST00000361962.4_Intron|CASK_ENST00000318588.9_Intron|CASK_ENST00000378166.4_Intron|CASK_ENST00000378158.1_Intron|CASK_ENST00000421587.2_Intron|GPR34_ENST00000378138.5_Missense_Mutation_p.R84H|CASK_ENST00000378163.1_Intron	NM_001097579.1|NM_005300.3	NP_001091048.1|NP_005291.1	Q9UPC5	GPR34_HUMAN	G protein-coupled receptor 34	84						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	p.R84H(1)		breast(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	14						GGTATTCACCGTAAAAGAAAT	0.383													A	41555137	G	A	41555137	3	1	602	1	0	0	0	0	1	0	0	0	6743	1145	40	1	253	1	GPR34	23	41555137	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	19263587	41555137	113715423	36	50322											
GRIPAP1	56850	broad.mit.edu	37	chrX	48830666	48830666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgcactccttgctgagcCgcacaatttcctgggacaga	9	8	9	15	2	0	2	0	1	0	1	2	3	2	3	4	1	2	3	4	1	1	2			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:48830666C>T	ENST00000376441.1	-	26	2499	c.2465G>A	c.(2464-2466)cGg>cAg	p.R822Q	GRIPAP1_ENST00000376444.3_Missense_Mutation_p.R777Q|GRIPAP1_ENST00000376425.3_Missense_Mutation_p.R791Q	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1	822						early endosome		p.R465Q(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						CTTGCTGAGCCGCACAATTTC	0.567													T	48830666	C	T	48830666	3	4	602	1	0	0	0	0	1	0	0	0	6844	652	23	1	64	1	GRIPAP1	23	48830666	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	7275529	48830666	106439894	37	50323											
ZC4H2	55906	broad.mit.edu	37	chrX	64139085	64139085	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttctgcttctcaaagtaaCtttggagatgagagacactg	11	13	9	8	0	2	3	1	1	2	2	3	5	2	3	0	1	2	2	0	1	2	4			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:64139085C>A	ENST00000545618.1	-	5	947		c.e5-1		ZC4H2_ENST00000447788.2_Intron|ZC4H2_ENST00000374839.3_Splice_Site|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Splice_Site			Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing								metal ion binding|protein binding			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						CTCAAAGTAACTTTGGAGATG	0.532													A	64139085	C	A	64139085	5	1	602	1	0	0	0	0	0	0	1	0	17679	579	20	4	303	4	ZC4H2	23	64139085	Splice_Site	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	15308419	64139085	91131475	38	50324											
DLG3	1741	broad.mit.edu	37	chrX	69669655	69669655	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgattggtggtgcggaggCgacagcctccacccgagacc	7	6	15	13	4	0	1	0	0	0	1	1	5	1	2	4	4	3	0	4	4	0	1			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:69669655C>T	ENST00000194900.4	+	5	1044	c.703C>T	c.(703-705)Cga>Tga	p.R235*	DLG3_ENST00000374360.3_Nonsense_Mutation_p.R217*			Q92796	DLG3_HUMAN	discs, large homolog 3 (Drosophila)	217	PDZ 2.				axon guidance|negative regulation of cell proliferation|synaptic transmission	plasma membrane	guanylate kinase activity			endometrium(4)|kidney(1)|large_intestine(10)|lung(5)|pancreas(1)|urinary_tract(1)	22	Renal(35;0.156)					GGTGCGGAGGCGACAGCCTCC	0.662													T	69669655	C	T	69669655	4	4	602	1	0	0	0	0	0	1	0	0	4595	760	27	1	663	1	DLG3	23	69669655	Nonsense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	5530570	69669655	85600905	39	50325											
TMEM164	84187	broad.mit.edu	37	chrX	109416566	109416566	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggcctcgggacaccagActctcatgaccatgacccac	9	7	9	16	1	2	3	1	2	2	1	4	4	2	4	4	2	0	0	4	2	0	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:109416566A>C	ENST00000372073.1	+	7	1117	c.781A>C	c.(781-783)Act>Cct	p.T261P	TMEM164_ENST00000372068.2_Missense_Mutation_p.T261P|TMEM164_ENST00000288381.4_Missense_Mutation_p.T222P|TMEM164_ENST00000372072.3_Missense_Mutation_p.T112P|TMEM164_ENST00000464177.1_3'UTR			Q5U3C3	TM164_HUMAN	transmembrane protein 164	261						integral to membrane				cervix(1)|endometrium(1)|large_intestine(5)|lung(6)|skin(1)	14						GGGACACCAGACTCTCATGAC	0.552													C	109416566	A	C	109416566	3	2	602	1	0	0	0	0	1	0	0	0	16179	275	10	5	803	5	TMEM164	23	109416566	Missense_Mutation	SNP	A	TCGA-HT-A615-01A-11D-A29Q-08	39746911	109416566	45853994	40	50326											
CUL4B	8450	broad.mit.edu	37	chrX	119669687	119669687	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgggaacatccacttacctCtttaaattctgcttttaaca	11	16	4	10	0	2	0	0	0	2	0	3	1	3	1	2	1	4	1	2	1	5	7			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:119669687C>G	ENST00000371322.5	-	16	2219	c.2158G>C	c.(2158-2160)Gag>Cag	p.E720Q	CUL4B_ENST00000404115.3_Missense_Mutation_p.E738Q|CUL4B_ENST00000336592.6_Missense_Mutation_p.E725Q	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	738					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	p.E720Q(1)|p.E738Q(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CCACTTACCTCTTTAAATTCT	0.353													G	119669687	C	G	119669687	3	3	602	1	0	0	0	0	1	0	0	0	4091	922	32	4	549	4	CUL4B	23	119669687	Missense_Mutation	SNP	C	TCGA-HT-A615-01A-11D-A29Q-08	10253121	119669687	35600873	41	50327											
CSAG1	158511	broad.mit.edu	37	chrX	151908875	151908875	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ggtctggtgaagatgtccagGaaaccacgagcctccagccc	10	6	12	13	1	1	2	0	1	1	1	3	4	3	3	5	3	3	0	5	3	2	0			TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:151908875G>C	ENST00000370291.2	+	4	394	c.114G>C	c.(112-114)agG>agC	p.R38S	CSAG1_ENST00000452779.2_Missense_Mutation_p.R38S|CSAG1_ENST00000370287.3_Missense_Mutation_p.R38S			Q6PB30	CSAG1_HUMAN	chondrosarcoma associated gene 1	38										central_nervous_system(1)|kidney(1)|lung(2)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					AGATGTCCAGGAAACCACGAG	0.572													C	151908875	G	C	151908875	3	2	602	1	0	0	0	0	1	0	0	0	3957	1165	41	4	120	4	CSAG1	23	151908875	Missense_Mutation	SNP	G	TCGA-HT-A615-01A-11D-A29Q-08	32239188	151908875	3361685	42	50328											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G																															ctgctgctcttccttgccgtINSggggggggccctgggcaaca																										TCGA-HT-A615-01A-11D-A29Q-08	TCGA-HT-A615-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb574e00-e564-4dda-972c-dc25f4b07540	c83749e7-fee4-46ed-8263-ae642aee2429	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													G	153688565	-	G	153688564	7	5	602	1	0	1	1	0	0	0	0	0	12198	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-HT-A615-01A-11D-A29Q-08	1779689	153688564	1581996	43	50329											
KHDRBS1	10657	broad.mit.edu	37	chr1	32479677	32479677	+	Frame_Shift_Del	DEL	C	C	-																															atggacccctccggtgcccaCccctcggtgcgtcagacgcc																										TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:32479677delC	ENST00000327300.7	+	1	248	c.81delC	c.(79-81)cacfs	p.H27fs	KHDRBS1_ENST00000492989.1_Frame_Shift_Del_p.H27fs|KHDRBS1_ENST00000307714.8_3'UTR	NM_006559.1	NP_006550.1	Q07666	KHDR1_HUMAN	KH domain containing, RNA binding, signal transduction associated 1	27					cell cycle arrest|cell proliferation|cell surface receptor linked signaling pathway|G2/M transition of mitotic cell cycle|mRNA processing|negative regulation of transcription, DNA-dependent|regulation of RNA export from nucleus|transcription, DNA-dependent	membrane|nucleus	DNA binding|RNA binding|SH3 domain binding|SH3/SH2 adaptor activity			endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)	14		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				CCGGTGCCCACCCCTCGGTGC	0.771													-	32479677	C	-	32479677	7	5	603	1	0	1	0	1	0	0	0	0	8204	506	18	0	83	0	KHDRBS1	1	32479677	Frame_Shift_Del	DEL	C	TCGA-HT-A616-01A-11D-A29Q-08		32479677	216770944	1	50330											
KIAA1324	57535	broad.mit.edu	37	chr1	109741239	109741239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagttctgggagatcaaccaCcatccgcgtcaggtgcagtc	9	8	11	13	2	3	1	2	0	1	1	5	2	4	1	3	2	2	2	3	2	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:109741239C>G	ENST00000369939.3	+	18	2627	c.2444C>G	c.(2443-2445)aCc>aGc	p.T815S	KIAA1324_ENST00000369938.1_3'UTR|KIAA1324_ENST00000529753.1_Missense_Mutation_p.T728S	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	815					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGATCAACCACCATCCGCGTC	0.532													G	109741239	C	G	109741239	3	3	603	1	0	0	0	0	1	0	0	0	8281	507	18	4	2514	4	KIAA1324	1	109741239	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	77261562	109741239	139509382	2	50331											
FLG	2312	broad.mit.edu	37	chr1	152282001	152282001	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggatctttgtcttccTccagtgctgggccctgtgcg	2	13	14	12	2	2	0	0	0	2	0	4	1	4	1	3	3	2	1	3	3	0	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152282001T>C	ENST00000368799.1	-	3	5396	c.5361A>G	c.(5359-5361)ggA>ggG	p.G1787G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1787	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTTGTCTTCCTCCAGTGCTGG	0.597									Ichthyosis				C	152282001	T	C	152282001	2	2	603	1	0	0	0	0	0	0	0	1	5971	1538	54	3		3	FLG	1	152282001	Silent	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	42540762	152282001	96968620	3	50332											
FLG	2312	broad.mit.edu	37	chr1	152283229	152283229	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtctctgactgcagatgaaGcttgtctgtgcccaatgcct	7	13	10	11	0	2	3	0	2	2	1	3	3	2	3	2	0	4	2	2	0	2	1	rs144375884		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:152283229G>C	ENST00000368799.1	-	3	4168	c.4133C>G	c.(4132-4134)gCt>gGt	p.A1378G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1378	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCAGATGAAGCTTGTCTGTG	0.532									Ichthyosis				C	152283229	G	C	152283229	3	2	603	1	0	0	0	0	1	0	0	0	5971	971	34	4	8056	4	FLG	1	152283229	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1228	152283229	96967392	4	50333											
SIPA1L2	57568	broad.mit.edu	37	chr1	232650368	232650368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcatgaaggctcggagagaTtgcagggtcacagcggaaaa	13	6	15	7	2	1	2	1	1	0	1	2	5	1	4	0	4	3	3	0	4	3	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr1:232650368T>C	ENST00000366630.1	-	2	1076	c.718A>G	c.(718-720)Atc>Gtc	p.I240V	SIPA1L2_ENST00000262861.4_Missense_Mutation_p.I240V			Q9P2F8	SI1L2_HUMAN	signal-induced proliferation-associated 1 like 2	240					regulation of small GTPase mediated signal transduction	intracellular	GTPase activator activity			NS(1)|breast(5)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(49)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	103		all_cancers(173;0.00605)|Prostate(94;0.128)|all_epithelial(177;0.186)				CTCGGAGAGATTGCAGGGTCA	0.473													C	232650368	T	C	232650368	3	2	603	1	0	0	0	0	1	0	0	0	14424	1493	52	3	4534	3	SIPA1L2	1	232650368	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	80367139	232650368	16600253	5	50334											
TTN	7273	broad.mit.edu	37	chr2	179453926	179453926	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttagttgccgtaactacAtatttacccccatcacttcg	9	14	6	12	2	1	0	1	0	0	0	2	0	1	0	3	0	4	3	3	0	5	8			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179453926A>G	ENST00000589042.1	-	304	62750	c.62526T>C	c.(62524-62526)taT>taC	p.Y20842Y	TTN_ENST00000359218.5_Silent_p.Y11902Y|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.Y11969Y|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.Y19201Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Silent_p.Y18274Y|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000460472.2_Silent_p.Y11777Y|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	19201	Fibronectin type-III 51.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCGTAACTACATATTTACCCC	0.413													G	179453926	A	G	179453926	2	3	603	1	0	0	0	0	0	0	0	1	16837	224	8	3		3	TTN	2	179453926	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		179453926	63745447	6	50335											
TTN	7273	broad.mit.edu	37	chr2	179579894	179579894	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctttataccaagaaacGtgaaatgggggagtgccctg	11	11	12	7	1	1	2	0	1	1	1	1	3	1	3	2	2	3	0	2	2	5	4			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:179579894G>A	ENST00000589042.1	-	90	26243	c.26019C>T	c.(26017-26019)caC>caT	p.H8673H	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.H8356H|TTN_ENST00000342992.6_Silent_p.H7429H|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	8356	Ig-like 69.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACCAAGAAACGTGAAATGGGG	0.443													A	179579894	G	A	179579894	2	1	603	1	0	0	0	0	0	0	0	1	16837	1136	40	1		1	TTN	2	179579894	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	125968	179579894	63619479	7	50336											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	603	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	29533218	209113112	34086261	8	50337											
CHCHD4	131474	broad.mit.edu	37	chr3	14157999	14157999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtttcatgatcttctttGgttacaaatatgattcgatc	10	17	8	6	1	3	2	1	2	2	0	5	4	3	3	0	2	1	2	0	2	3	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:14157999G>A	ENST00000295767.5	-	3	411	c.87C>T	c.(85-87)acC>acT	p.T29T	CHCHD4_ENST00000396914.3_Silent_p.T16T	NM_144636.2	NP_653237.1	Q8N4Q1	MIA40_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 4	16					protein transport|transmembrane transport	mitochondrial intermembrane space				kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5						GATCTTCTTTGGTTACAAATA	0.468													A	14157999	G	A	14157999	2	1	603	1	0	0	0	0	0	0	0	1	3348	1335	47	2		2	CHCHD4	3	14157999	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		14157999	183864431	9	50338											
CCDC54	84692	broad.mit.edu	37	chr3	107096617	107096617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatgatgatagttatgaCggaaaaatgaatcttccagt	16	11	9	5	1	1	5	0	4	1	1	2	6	2	6	1	1	0	1	1	1	6	3	rs144553244		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr3:107096617C>T	ENST00000261058.1	+	1	430	c.183C>T	c.(181-183)gaC>gaT	p.D61D		NM_032600.2	NP_115989.1	Q8NEL0	CCD54_HUMAN	coiled-coil domain containing 54	61								p.D61D(1)		NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	19						ATAGTTATGACGGAAAAATGA	0.363													T	107096617	C	T	107096617	2	4	603	1	0	0	0	0	0	0	0	1	2852	535	19	1		1	CCDC54	3	107096617	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	92938618	107096617	90925813	10	50339											
FAT2	2196	broad.mit.edu	37	chr5	150917494	150917494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atacatcttcatgaaccttgCcagtatagagaagctagaga	15	10	8	8	0	2	3	1	1	1	2	2	5	2	3	2	0	4	2	2	0	6	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr5:150917494C>G	ENST00000261800.5	-	11	9065	c.9053G>C	c.(9052-9054)gGc>gCc	p.G3018A		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	3018	Cadherin 27.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			ATGAACCTTGCCAGTATAGAG	0.458													G	150917494	C	G	150917494	3	3	603	1	0	0	0	0	1	0	0	0	5739	739	26	4	4048	4	FAT2	5	150917494	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		150917494	29997766	11	50340											
CAPN11	11131	broad.mit.edu	37	chr6	44143857	44143857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgacaagatgctggtgagagGgcacgcttactctgtgactg	9	10	14	8	1	1	4	0	3	1	2	1	5	1	4	0	2	2	3	0	2	2	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr6:44143857G>A	ENST00000542245.1	+	8	922	c.884G>A	c.(883-885)gGg>gAg	p.G295E	CAPN11_ENST00000398776.1_Missense_Mutation_p.G295E			Q9UMQ6	CAN11_HUMAN	calpain 11	295	Calpain catalytic.				proteolysis	acrosomal vesicle	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	36	all_cancers(18;3.19e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00908)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			CTGGTGAGAGGGCACGCTTAC	0.557													A	44143857	G	A	44143857	3	1	603	1	0	0	0	0	1	0	0	0	2650	1232	43	2	914	2	CAPN11	6	44143857	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		44143857	126971210	12	50341											
NOTCH1	4851	broad.mit.edu	37	chr9	139402727	139402727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggacacgctgggcacgtcGcagtaaaggccggtccagcc	9	4	14	14	4	0	0	0	0	0	0	2	1	1	1	3	4	1	4	3	4	2	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr9:139402727G>C	ENST00000277541.6	-	20	3357	c.3282C>G	c.(3280-3282)tgC>tgG	p.C1094W		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1094	EGF-like 28.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGGCACGTCGCAGTAAAGGC	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			C	139402727	G	C	139402727	3	2	603	1	0	0	0	0	1	0	0	0	10623	1079	38	4	4445	4	NOTCH1	9	139402727	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		139402727	1810704	13	50342											
CCAR1	55749	broad.mit.edu	37	chr10	70513778	70513779	+	Frame_Shift_Ins	INS	-	-	A																															cagagaagtagagtccttagINSaaaaaaatatggccattctt																										TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr10:70513778_70513779insA	ENST00000265872.6	+	11	1407_1408	c.1288_1289insA	c.(1288-1290)gaafs	p.E430fs	CCAR1_ENST00000543719.1_Frame_Shift_Ins_p.E415fs|CCAR1_ENST00000535016.1_Frame_Shift_Ins_p.E415fs	NM_001282959.1|NM_001282960.1|NM_018237.2	NP_001269888.1|NP_001269889.1|NP_060707.2	Q8IX12	CCAR1_HUMAN	cell division cycle and apoptosis regulator 1	430					apoptosis|cell cycle|nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm|perinuclear region of cytoplasm	calcium ion binding|nucleic acid binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(9)|lung(13)|ovary(7)|skin(3)	56						AGAGTCCTTAGAAAAAAATATG	0.381													A	70513779	-	A	70513778	7	5	603	1	0	1	1	0	0	0	0	0	2756	943	33	0	1326	0	CCAR1	10	70513778	Frame_Shift_Ins	INS	-	TCGA-HT-A616-01A-11D-A29Q-08		70513778	65020969	14	50343											
TMX2	51075	broad.mit.edu	37	chr11	57480129	57480129	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaattgctctcgtgtattcGgtgccgcgactttcacgatg	6	14	10	11	5	2	0	1	0	1	0	4	2	2	0	1	1	2	2	1	1	2	5			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:57480129G>A	ENST00000278422.4	+	1	51	c.39G>A	c.(37-39)tcG>tcA	p.S13S	TMX2-CTNND1_ENST00000528395.1_Silent_p.S13S|TMX2_ENST00000378312.4_Silent_p.S13S	NM_015959.3	NP_057043.1	Q9Y320	TMX2_HUMAN	thioredoxin-related transmembrane protein 2	13					cell redox homeostasis	integral to membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(2)	12						TCGTGTATTCGGTGCCGCGAC	0.627													A	57480129	G	A	57480129	2	1	603	1	0	0	0	0	0	0	0	1	16367	1103	39	1		1	TMX2	11	57480129	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		57480129	77526387	15	50344											
OR5A1	219982	broad.mit.edu	37	chr11	59211152	59211152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctccatatttaggcttcacTtttgcggacccaacatcatc	9	13	6	13	1	2	0	2	0	0	0	4	1	3	1	2	2	2	2	2	2	3	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr11:59211152T>A	ENST00000302030.2	+	1	536	c.511T>A	c.(511-513)Ttt>Att	p.F171I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TAGGCTTCACTTTTGCGGACC	0.532													A	59211152	T	A	59211152	3	1	603	1	0	0	0	0	1	0	0	0	11215	1609	56	5	513	5	OR5A1	11	59211152	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	1731023	59211152	75795364	16	50345											
AVPR1A	552	broad.mit.edu	37	chr12	63543861	63543861	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacccttgctctggcgcgaCgccgtcttcccgcggacgtt	3	9	12	17	7	2	0	0	0	2	0	3	2	3	1	3	2	1	3	3	2	0	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr12:63543861C>T	ENST00000299178.2	-	1	861	c.756G>A	c.(754-756)gcG>gcA	p.A252A		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	252					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	TCTGGCGCGACGCCGTCTTCC	0.622													T	63543861	C	T	63543861	2	4	603	1	0	0	0	0	0	0	0	1	1236	523	19	1		1	AVPR1A	12	63543861	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		63543861	70308034	17	50346											
ATG2B	55102	broad.mit.edu	37	chr14	96777876	96777877	+	Splice_Site	DEL	CA	CA	-																															tttcatttattttaataactCacttgctctccatcagaatc																										TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr14:96777876_96777877delCA	ENST00000359933.4	-	27	4884		c.e27+1			NM_018036.5	NP_060506	Q96BY7	ATG2B_HUMAN	autophagy related 2B											breast(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(11)|liver(1)|lung(26)|ovary(1)|prostate(1)|skin(1)|urinary_tract(7)	64		all_cancers(154;0.0462)|all_epithelial(191;0.123)|Melanoma(154;0.155)		Epithelial(152;0.21)|COAD - Colon adenocarcinoma(157;0.244)		TTTAATAACTCACTTGCTCTCC	0.277													-	96777877	CA	-	96777876	8	5	603	1	0	1	0	1	0	0	1	0	1099	841	29	0		0	ATG2B	14	96777876	Splice_Site	DEL	CA	TCGA-HT-A616-01A-11D-A29Q-08		96777876	10571664	18	50347											
THBS1	7057	broad.mit.edu	37	chr15	39884880	39884880	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatgtgcccaatgccaacCaggctgaccatgacaaagat	13	7	8	13	0	0	3	0	2	0	1	0	3	0	3	5	1	3	1	5	1	4	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:39884880C>T	ENST00000260356.5	+	17	2809	c.2644C>T	c.(2644-2646)Cag>Tag	p.Q882*		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	882					activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	CAATGCCAACCAGGCTGACCA	0.502													T	39884880	C	T	39884880	4	4	603	1	0	0	0	0	0	1	0	0	15953	595	21	2	2706	2	THBS1	15	39884880	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		39884880	62646512	19	50348											
SPINT1	6692	broad.mit.edu	37	chr15	41146276	41146276	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccctccatggaaaggcGccatccaggtgggctttact	8	8	12	13	1	0	0	0	0	0	0	2	1	2	1	5	5	1	1	5	5	2	2	rs138167951		TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:41146276G>A	ENST00000344051.4	+	6	1214	c.980G>A	c.(979-981)cGc>cAc	p.R327H	SPINT1_ENST00000431806.1_Missense_Mutation_p.R311H|SPINT1_ENST00000562057.1_Missense_Mutation_p.R311H			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	327						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		ATGGAAAGGCGCCATCCAGGT	0.592													A	41146276	G	A	41146276	3	1	603	1	0	0	0	0	1	0	0	0	15164	1087	38	1	998	1	SPINT1	15	41146276	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1261396	41146276	61385116	20	50349											
VPS13C	54832	broad.mit.edu	37	chr15	62300864	62300864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaacttaccatcgtcgacCattggtatgaagtggtaaat	12	13	8	8	2	1	1	0	1	1	0	3	2	1	1	2	2	2	2	2	2	6	5			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr15:62300864C>G	ENST00000261517.5	-	14	1181	c.1108G>C	c.(1108-1110)Ggt>Cgt	p.G370R	VPS13C_ENST00000249837.3_Missense_Mutation_p.G327R|VPS13C_ENST00000395896.4_Missense_Mutation_p.G370R|VPS13C_ENST00000395898.3_Missense_Mutation_p.G327R	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN	vacuolar protein sorting 13 homolog C (S. cerevisiae)	370					protein localization					NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						CATCGTCGACCATTGGTATGA	0.338													G	62300864	C	G	62300864	3	3	603	1	0	0	0	0	1	0	0	0	17293	594	21	4	10469	4	VPS13C	15	62300864	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	21154588	62300864	40230528	21	50350											
CNOT1	23019	broad.mit.edu	37	chr16	58581553	58581553	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaaagaacgatctgagaAattggctgcagctttatcag	14	9	10	8	1	2	2	1	1	1	2	2	4	2	2	0	1	4	4	0	1	4	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:58581553A>C	ENST00000317147.5	-	26	3888	c.3556T>G	c.(3556-3558)Ttc>Gtc	p.F1186V	CNOT1_ENST00000245138.4_Intron|CNOT1_ENST00000569240.1_Missense_Mutation_p.F1181V|CNOT1_ENST00000441024.2_Missense_Mutation_p.F1186V	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	1186					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		CGATCTGAGAAATTGGCTGCA	0.358													C	58581553	A	C	58581553	3	2	603	1	0	0	0	0	1	0	0	0	3648	14	1	5	3892	5	CNOT1	16	58581553	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08		58581553	31773200	22	50351											
C16orf70	80262	broad.mit.edu	37	chr16	67168278	67168278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctcccatgatgcctctgaGctgtttcctgggcaatgtct	5	13	11	12	0	2	2	0	2	2	0	4	2	4	2	3	2	2	4	3	2	1	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:67168278G>A	ENST00000219139.3	+	8	757	c.569G>A	c.(568-570)aGc>aAc	p.S190N	C16orf70_ENST00000569683.1_3'UTR|C16orf70_ENST00000569600.1_Missense_Mutation_p.S190N	NM_025187.3	NP_079463.2	Q9BSU1	CP070_HUMAN	chromosome 16 open reading frame 70	190										cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(3)|skin(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0017)|Epithelial(162;0.00655)|all cancers(182;0.0579)		ATGCCTCTGAGCTGTTTCCTG	0.532													A	67168278	G	A	67168278	3	1	603	1	0	0	0	0	1	0	0	0	1843	971	34	2	599	2	C16orf70	16	67168278	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	8586725	67168278	23186475	23	50352											
PRDM7	11105	broad.mit.edu	37	chr16	90124772	90124772	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgtggatcagaatattgccGctcctgattctgatcccctg	7	12	10	12	2	2	3	1	2	1	1	4	4	4	4	4	1	1	1	4	1	2	3	rs144617453	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr16:90124772G>A	ENST00000407825.1	-	9	1140	c.503C>T	c.(502-504)gCg>gTg	p.A168V	PRDM7_ENST00000325921.6_Missense_Mutation_p.A168V|PRDM7_ENST00000449207.2_Silent_p.S468S			Q9NQW5	PRDM7_HUMAN	PR domain containing 7	0						chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GAATATTGCCGCTCCTGATTC	0.468													A	90124772	G	A	90124772	3	1	603	1	0	0	0	0	1	0	0	0	12547	1087	38	1	78	1	PRDM7	16	90124772	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	22956494	90124772	229981	24	50353											
ANKRD13B	124930	broad.mit.edu	37	chr17	27939276	27939276	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctgcgtctgcctcctggcTtcccagttaagattggtgag	5	12	11	13	1	1	2	0	1	1	1	3	2	3	2	4	2	2	2	4	2	1	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:27939276T>G	ENST00000394859.3	+	11	1397	c.1243T>G	c.(1243-1245)Ttc>Gtc	p.F415V	RP11-68I3.2_ENST00000581474.1_RNA	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	415										cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GCCTCCTGGCTTCCCAGTTAA	0.622													G	27939276	T	G	27939276	3	3	603	1	0	0	0	0	1	0	0	0	642	1609	56	5	1285	5	ANKRD13B	17	27939276	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		27939276	53255934	25	50354											
ABCA9	10350	broad.mit.edu	37	chr17	66982397	66982397	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcaggttgggccacagCgcattctcctgagggcagta	8	9	13	11	1	2	1	1	1	1	0	3	1	2	1	2	3	1	4	2	3	1	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr17:66982397C>T	ENST00000340001.4	-	32	4327	c.4116G>A	c.(4114-4116)gcG>gcA	p.A1372A	ABCA9_ENST00000370732.2_Silent_p.A1372A|ABCA9_ENST00000453985.2_Silent_p.A1334A	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	1372	ABC transporter 2.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					TGGGCCACAGCGCATTCTCCT	0.547													T	66982397	C	T	66982397	2	4	603	1	0	0	0	0	0	0	0	1	39	755	27	1		1	ABCA9	17	66982397	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	39043121	66982397	14212813	26	50355											
DSG2	1829	broad.mit.edu	37	chr18	29126141	29126141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctgacccaatggcttctaGaaatgtgatagcaacagaaa	15	9	8	9	0	1	4	0	2	1	2	2	4	2	4	2	1	2	2	2	1	6	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:29126141G>C	ENST00000261590.8	+	15	3001	c.2792G>C	c.(2791-2793)aGa>aCa	p.R931T	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	931					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ATGGCTTCTAGAAATGTGATA	0.473													C	29126141	G	C	29126141	3	2	603	1	0	0	0	0	1	0	0	0	4816	942	33	4	2850	4	DSG2	18	29126141	Missense_Mutation	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		29126141	48951107	27	50356											
RTTN	25914	broad.mit.edu	37	chr18	67695981	67695981	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttacattcctcattttgataAagacagtttcttaggagctg	11	16	7	7	0	2	2	1	1	1	1	3	3	3	3	1	1	2	2	1	1	4	7			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr18:67695981A>C	ENST00000255674.6	-	43	6088	c.5802T>G	c.(5800-5802)ctT>ctG	p.L1934L	RTTN_ENST00000579986.1_5'UTR|RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1934				L -> P (in Ref. 4; AAH46222).			binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CATTTTGATAAAGACAGTTTC	0.308													C	67695981	A	C	67695981	2	2	603	1	0	0	0	0	0	0	0	1	13828	1	1	5		5	RTTN	18	67695981	Silent	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	38569840	67695981	10381267	28	50357											
PRODH2	58510	broad.mit.edu	37	chr19	36293163	36293163	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtcccatccagaggaatGcccagctcccacatgctaca	12	6	7	16	0	0	1	0	0	0	1	3	2	3	2	4	1	4	2	4	1	2	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:36293163G>T	ENST00000301175.3	-	10	1373	c.1356C>A	c.(1354-1356)ggC>ggA	p.G452G		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	452					glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCAGAGGAATGCCCAGCTCCC	0.542													T	36293163	G	T	36293163	2	4	603	1	0	0	0	0	0	0	0	1	12635	1306	46	4		4	PRODH2	19	36293163	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08		36293163	22835820	29	50358											
KCNA7	3743	broad.mit.edu	37	chr19	49573516	49573516	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgaaattggagacaatgAcgggcactggcagggaaata	15	6	14	6	1	0	3	0	2	0	1	0	5	0	4	0	4	1	3	0	4	4	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:49573516A>G	ENST00000221444.1	-	2	1530	c.1175T>C	c.(1174-1176)gTc>gCc	p.V392A		NM_031886.2	NP_114092.2	Q96RP8	KCNA7_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 7	392						voltage-gated potassium channel complex	voltage-gated potassium channel activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|skin(2)	11		all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_epithelial(76;3.83e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000397)|OV - Ovarian serous cystadenocarcinoma(262;0.000519)|GBM - Glioblastoma multiforme(486;0.00541)|Epithelial(262;0.0441)		GGAGACAATGACGGGCACTGG	0.567													G	49573516	A	G	49573516	3	3	603	1	0	0	0	0	1	0	0	0	8066	275	10	3	199	3	KCNA7	19	49573516	Missense_Mutation	SNP	A	TCGA-HT-A616-01A-11D-A29Q-08	13280353	49573516	9555467	30	50359											
PRR12	57479	broad.mit.edu	37	chr19	50123629	50123629	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgggcagtacctgggcgtCtgctcaaaaccagggcgatg	9	6	15	11	3	2	0	1	0	1	0	2	1	2	0	2	3	4	3	2	3	3	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr19:50123629C>T	ENST00000418929.2	+	10	5530	c.5518C>T	c.(5518-5520)Ctg>Ttg	p.L1840L		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	1019							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		ACCTGGGCGTCTGCTCAAAAC	0.567													T	50123629	C	T	50123629	2	4	603	1	0	0	0	0	0	0	0	1	12670	912	32	2		2	PRR12	19	50123629	Silent	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	550113	50123629	9005354	31	50360											
TXN2	25828	broad.mit.edu	37	chr22	36872905	36872905	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagggtccacaccaccTcaaaaggcgagaaaggaagc	14	4	11	12	1	1	1	1	0	0	1	2	3	2	2	3	3	2	1	3	3	4	1			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chr22:36872905T>A	ENST00000216185.2	-	3	730		c.e3-2		TXN2_ENST00000403313.1_Splice_Site|TXN2_ENST00000487725.1_Splice_Site|TXN2_ENST00000416967.1_Splice_Site			Q99757	THIOM_HUMAN	thioredoxin 2						cell redox homeostasis|electron transport chain|glycerol ether metabolic process|transport	mitochondrion|nucleolus	electron carrier activity			breast(1)|lung(1)|prostate(1)	3						CCACACCACCTCAAAAGGCGA	0.537													A	36872905	T	A	36872905	5	1	603	1	0	0	0	0	0	0	1	0	16893	1565	54	5	246	5	TXN2	22	36872905	Splice_Site	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08		36872905	14431661	32	50361											
MAGEB4	4115	broad.mit.edu	37	chrX	30260295	30260295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccgtgcccgtgagaaaCgccagcggacccgtggtcag	8	5	14	14	5	1	1	1	1	0	1	2	3	2	2	4	2	4	1	4	2	1	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:30260295C>T	ENST00000378982.2	+	1	239	c.43C>T	c.(43-45)Cgc>Tgc	p.R15C		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	15										breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCGTGAGAAACGCCAGCGGAC	0.567													T	30260295	C	T	30260295	3	4	603	1	0	0	0	0	1	0	0	0	9253	536	19	1	45	1	MAGEB4	23	30260295	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08		30260295	125010265	33	50362											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	10	6	16	9	0	2	1	1	1	1	0	2	5	2	5	0	4	5	5	0	4	0	0	rs147803166	by1000genomes	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													G	49355893	C	G	49355893	3	3	603	1	0	0	0	0	1	0	0	0	6243	479	17	4	1282	4	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	19095598	49355893	105914667	34	50363											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													A	51076024	G	A	51076024	2	1	603	1	0	0	0	0	0	0	0	1	10802	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	1720131	51076024	104194536	35	50364											
ATRX	546	broad.mit.edu	37	chrX	76939697	76939697	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgccttcttaatcatctCtttgggcacaattagtgcgg	7	17	8	9	1	3	0	1	0	2	0	4	0	3	0	1	2	2	1	1	2	3	6			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:76939697C>A	ENST00000373344.5	-	9	1265	c.1051G>T	c.(1051-1053)Gag>Tag	p.E351*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.E313*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	351					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)	TTAATCATCTCTTTGGGCACA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939697	C	A	76939697	4	1	603	1	0	0	0	0	0	1	0	0	1213	922	32	4	6535	4	ATRX	23	76939697	Nonsense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25863673	76939697	78330863	36	50365											
RGAG1	57529	broad.mit.edu	37	chrX	109694050	109694050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ccacacagttgatgacatctCcagtctttgacaccatgtct	10	12	6	13	0	3	3	0	3	3	0	4	3	3	3	3	0	0	1	3	0	0	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:109694050C>G	ENST00000465301.2	+	3	451	c.205C>G	c.(205-207)Cca>Gca	p.P69A	RGAG1_ENST00000540313.1_Missense_Mutation_p.P69A	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	69										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATGACATCTCCAGTCTTTGA	0.517											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	109694050	C	G	109694050	3	3	603	1	0	0	0	0	1	0	0	0	13362	855	30	4	207	4	RGAG1	23	109694050	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	32754353	109694050	45576510	37	50366											
GPR112	139378	broad.mit.edu	37	chrX	135429890	135429890	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagcacacagattacaccaaCcttgacctcaagtaacacag	17	6	5	13	0	1	2	1	1	0	1	1	2	1	2	3	0	4	2	3	0	5	3			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:135429890C>A	ENST00000394143.1	+	6	4316	c.4025C>A	c.(4024-4026)aCc>aAc	p.T1342N	GPR112_ENST00000412101.1_Missense_Mutation_p.T1137N|GPR112_ENST00000370652.1_Missense_Mutation_p.T1342N|GPR112_ENST00000287534.4_Missense_Mutation_p.T1279N|GPR112_ENST00000394141.1_Missense_Mutation_p.T1137N	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1342					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					ATTACACCAACCTTGACCTCA	0.463													A	135429890	C	A	135429890	3	1	603	1	0	0	0	0	1	0	0	0	6683	507	18	4	4035	4	GPR112	23	135429890	Missense_Mutation	SNP	C	TCGA-HT-A616-01A-11D-A29Q-08	25735840	135429890	19840670	38	50367											
MCF2	4168	broad.mit.edu	37	chrX	138711938	138711938	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagttctgtctcagccagTtcagttccaaaggactgtaa	10	12	10	9	0	3	0	2	0	2	0	5	1	4	1	2	2	1	5	2	2	3	5			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:138711938T>A	ENST00000520602.1	-	7	819	c.534A>T	c.(532-534)gaA>gaT	p.E178D	MCF2_ENST00000370573.4_Missense_Mutation_p.E118D|MCF2_ENST00000536274.1_Missense_Mutation_p.E79D|MCF2_ENST00000370578.4_Missense_Mutation_p.E263D|MCF2_ENST00000370576.4_Missense_Mutation_p.E118D|MCF2_ENST00000338585.6_Missense_Mutation_p.E118D|MCF2_ENST00000414978.1_Missense_Mutation_p.E178D|MCF2_ENST00000519895.1_Missense_Mutation_p.E178D			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	118					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					TCTCAGCCAGTTCAGTTCCAA	0.398													A	138711938	T	A	138711938	3	1	603	1	0	0	0	0	1	0	0	0	9453	1722	60	5	2591	5	MCF2	23	138711938	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3282048	138711938	16558622	39	50368											
CD99L2	83692	broad.mit.edu	37	chrX	149938823	149938823	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccaggttctctcccttcacGtagtctgcgttgagaccctc	5	13	8	15	2	3	1	1	1	2	1	7	2	5	1	3	1	1	3	3	1	1	4	rs147156476	byFrequency	TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:149938823G>A	ENST00000370377.3	-	10	792	c.675C>T	c.(673-675)taC>taT	p.Y225Y	CD99L2_ENST00000355149.3_Silent_p.Y153Y|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000466436.1_Silent_p.Y176Y|CD99L2_ENST00000437787.2_Silent_p.Y152Y	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	225					cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCTTCACGTAGTCTGCGT	0.537													A	149938823	G	A	149938823	2	1	603	1	0	0	0	0	0	0	0	1	3081	1140	40	1		1	CD99L2	23	149938823	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	11226885	149938823	5331737	40	50369											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	603	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-HT-A616-01A-11D-A29Q-08	217537	150156360	5114200	41	50370											
NAA10	8260	broad.mit.edu	37	chrX	153195525	153195525	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgctgaggtccttgctgTccccaccactatcctcggca	5	10	8	18	2	0	1	0	1	0	0	5	1	3	1	6	2	1	3	6	2	1	2			TCGA-HT-A616-01A-11D-A29Q-08	TCGA-HT-A616-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5e41fcb0-82bf-4e09-99ba-ff6f56d6f18c	eb5310fc-1426-4b59-b41b-47302c259a6a	g.chrX:153195525T>C	ENST00000464845.1	-	8	941	c.623A>G	c.(622-624)gAc>gGc	p.D208G	NAA10_ENST00000370009.1_Missense_Mutation_p.D193G|NAA10_ENST00000393712.3_3'UTR|NAA10_ENST00000370015.4_3'UTR	NM_001256120.1|NM_003491.3	NP_001243049.1|NP_003482.1	P41227	NAA10_HUMAN	N(alpha)-acetyltransferase 10, NatA catalytic subunit	208					DNA packaging|internal protein amino acid acetylation|N-terminal protein amino acid acetylation	cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			breast(1)|endometrium(3)|kidney(1)|lung(3)|ovary(1)|prostate(1)	10						GTCCTTGCTGTCCCCACCACT	0.617													C	153195525	T	C	153195525	3	2	603	1	0	0	0	0	1	0	0	0	10192	1667	58	3	88	3	NAA10	23	153195525	Missense_Mutation	SNP	T	TCGA-HT-A616-01A-11D-A29Q-08	3039165	153195525	2075035	42	50371											
KIAA1324	57535	broad.mit.edu	37	chr1	109716150	109716150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaaccacagccttctcaGtatggaccaaagtacccaag	14	6	9	12	0	1	1	1	0	1	1	2	3	1	2	4	2	3	2	4	2	5	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:109716150G>A	ENST00000369939.3	+	6	934	c.751G>A	c.(751-753)Gta>Ata	p.V251I	KIAA1324_ENST00000529753.1_Missense_Mutation_p.V251I	NM_020775.4	NP_065826	Q6UXG2	K1324_HUMAN	KIAA1324	251					macroautophagy|positive regulation of vacuole organization|regulation of apoptosis	integral to plasma membrane				NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		all_epithelial(167;0.000102)|all_lung(203;0.000323)|Lung NSC(277;0.00063)		Colorectal(144;0.0188)|Lung(183;0.0527)|COAD - Colon adenocarcinoma(174;0.14)|Epithelial(280;0.21)|all cancers(265;0.249)		AGCCTTCTCAGTATGGACCAA	0.453													A	109716150	G	A	109716150	3	1	604	1	0	0	0	0	1	0	0	0	8281	1029	36	2	773	2	KIAA1324	1	109716150	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		109716150	139534471	1	50372											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													C	145109976	-	C	145109975	6	5	604	0	1	1	1	0	0	0	0	0	14082	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-HT-A617-01A-11D-A29Q-08	35393825	145109975	104140646	2	50373											
FCRL5	83416	broad.mit.edu	37	chr1	157490931	157490931	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctcctccagagggggaCgacctatttcctagggtgac	8	8	13	12	2	0	2	0	1	0	1	3	5	3	3	4	3	0	1	4	3	2	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:157490931C>T	ENST00000361835.3	-	11	2548	c.2391G>A	c.(2389-2391)tcG>tcA	p.S797S	FCRL5_ENST00000461387.1_5'UTR|FCRL5_ENST00000356953.4_Silent_p.S797S	NM_001195388.1|NM_031281.2	NP_001182317.1|NP_112571.2	Q96RD9	FCRL5_HUMAN	Fc receptor-like 5	797	Ig-like C2-type 8.					integral to membrane|plasma membrane	receptor activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(45)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	85	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.231)				CAGAGGGGGACGACCTATTTC	0.592													T	157490931	C	T	157490931	2	4	604	1	0	0	0	0	0	0	0	1	5847	523	19	1		1	FCRL5	1	157490931	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	12380956	157490931	91759690	3	50374											
PEA15	8682	broad.mit.edu	37	chr1	160181386	160181386	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccaacaacatcacccttGaagatctagaacagctcaag	16	7	6	12	0	3	4	2	2	1	2	3	4	3	4	2	0	4	1	2	0	6	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:160181386G>T	ENST00000368076.1	+	4	463	c.115G>T	c.(115-117)Gaa>Taa	p.E39*	PEA15_ENST00000368077.1_Nonsense_Mutation_p.E18*|PEA15_ENST00000488858.1_3'UTR|PEA15_ENST00000360472.4_Nonsense_Mutation_p.E18*			Q15121	PEA15_HUMAN	phosphoprotein enriched in astrocytes 15	18	DED.				anti-apoptosis|apoptosis|carbohydrate transport|negative regulation of glucose import	cytoplasm|microtubule associated complex	protein binding			large_intestine(1)|lung(4)	5	all_cancers(52;3.11e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CATCACCCTTGAAGATCTAGA	0.532													T	160181386	G	T	160181386	4	4	604	1	0	0	0	0	0	1	0	0	11787	1291	45	4	54	4	PEA15	1	160181386	Nonsense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	2690455	160181386	89069235	4	50375											
DENND1B	163486	broad.mit.edu	37	chr1	197611924	197611924	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatgttgttcacatccaCggcaacaaaatattctgtaa	14	11	6	10	1	2	0	1	0	1	0	3	0	3	0	1	1	2	5	1	1	5	5			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr1:197611924C>T	ENST00000235453.4	-	10	776	c.499G>A	c.(499-501)Gtg>Atg	p.V167M	DENND1B_ENST00000367396.3_Missense_Mutation_p.V197M|DENND1B_ENST00000400967.2_Missense_Mutation_p.V167M			Q6P3S1	DEN1B_HUMAN	DENN/MADD domain containing 1B	197	DENN.					clathrin-coated vesicle|cytosol	guanyl-nucleotide exchange factor activity			NS(2)|breast(2)|kidney(2)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	22						TTCACATCCACGGCAACAAAA	0.373													T	197611924	C	T	197611924	3	4	604	1	0	0	0	0	1	0	0	0	4466	536	19	1	1835	1	DENND1B	1	197611924	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	37430538	197611924	51638697	5	50376											
PCBP1	5093	broad.mit.edu	37	chr2	70315908	70315908	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcccagtatctaatcaatGccaggctttcctctgagaag	10	11	9	11	0	3	1	1	1	2	1	4	2	4	1	3	2	1	2	3	2	4	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:70315908G>C	ENST00000303577.5	+	1	1324	c.1033G>C	c.(1033-1035)Gcc>Ccc	p.A345P	PCBP1-AS1_ENST00000596028.1_RNA	NM_006196.3	NP_006187.2	Q15365	PCBP1_HUMAN	poly(rC) binding protein 1	345					nuclear mRNA splicing, via spliceosome	cytoplasm|nucleoplasm|ribonucleoprotein complex	protein binding|RNA binding|single-stranded DNA binding			endometrium(2)|kidney(1)|large_intestine(6)|lung(2)|skin(1)	12						TCTAATCAATGCCAGGCTTTC	0.498													C	70315908	G	C	70315908	3	2	604	1	0	0	0	0	1	0	0	0	11576	1319	46	4	1035	4	PCBP1	2	70315908	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		70315908	172883465	6	50377											
MYO7B	4648	broad.mit.edu	37	chr2	128389239	128389239	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccaccctggagctcaccgaCcagatcttcacactggccct	8	7	7	19	1	3	1	2	0	1	1	3	3	3	2	5	2	1	1	5	2	0	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:128389239C>A	ENST00000389524.4	+	37	5138	c.5085C>A	c.(5083-5085)gaC>gaA	p.D1695E	MYO7B_ENST00000428314.1_Missense_Mutation_p.D1694E|MYO7B_ENST00000409816.2_Missense_Mutation_p.D1694E|MYO7B_ENST00000409090.1_Missense_Mutation_p.D547E			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1694	MyTH4 2.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		AGCTCACCGACCAGATCTTCA	0.647													A	128389239	C	A	128389239	3	1	604	1	0	0	0	0	1	0	0	0	10159	506	18	4	5224	4	MYO7B	2	128389239	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	58073331	128389239	114810134	7	50378											
TTN	7273	broad.mit.edu	37	chr2	179500810	179500810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccgcatcaagccaatgaCgcctggcacaattcggccag	11	5	10	15	3	1	1	1	1	0	0	2	1	1	1	4	2	2	2	4	2	3	1	rs149059189	by1000genomes	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:179500810C>T	ENST00000589042.1	-	226	41712	c.41488G>A	c.(41488-41490)Gtc>Atc	p.V13830I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V11262I|TTN_ENST00000460472.2_Missense_Mutation_p.V4765I|TTN_ENST00000342175.6_Missense_Mutation_p.V4957I|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V12189I|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V4890I	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12189	Ig-like 94.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGCCAATGACGCCTGGCACA	0.512													T	179500810	C	T	179500810	3	4	604	1	0	0	0	0	1	0	0	0	16837	536	19	1	66753	1	TTN	2	179500810	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	51111571	179500810	63698563	8	50379											
AOX1	316	broad.mit.edu	37	chr2	201478596	201478596	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagtctcccttttgggctcGgcgccaggtgggaaagtgga	7	9	16	9	2	1	0	0	0	1	0	3	3	1	2	2	5	0	1	2	5	2	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:201478596G>A	ENST00000374700.2	+	15	1759	c.1518G>A	c.(1516-1518)tcG>tcA	p.S506S	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN	aldehyde oxidase 1	506					inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity			breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	TTTTGGGCTCGGCGCCAGGTG	0.473													A	201478596	G	A	201478596	2	1	604	1	0	0	0	0	0	0	0	1	731	1103	39	1		1	AOX1	2	201478596	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	21977786	201478596	41720777	9	50380											
NRP2	8828	broad.mit.edu	37	chr2	206605324	206605324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaaggtttgttagaatcCgccctcagacctggcactca	10	10	9	12	1	2	3	2	1	0	2	3	3	3	3	3	2	0	3	3	2	3	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:206605324C>T	ENST00000360409.3	+	8	2019	c.1228C>T	c.(1228-1230)Cgc>Tgc	p.R410C	NRP2_ENST00000272849.3_Missense_Mutation_p.R410C|NRP2_ENST00000355117.4_Missense_Mutation_p.R410C|NRP2_ENST00000417189.1_Missense_Mutation_p.R410C|NRP2_ENST00000357785.5_Missense_Mutation_p.R410C|NRP2_ENST00000357118.4_Missense_Mutation_p.R410C|NRP2_ENST00000540841.1_Missense_Mutation_p.R410C|NRP2_ENST00000412873.2_Missense_Mutation_p.R410C|NRP2_ENST00000540178.1_Missense_Mutation_p.R410C	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	410	F5/8 type C 1.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity	p.R410C(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						TGTTAGAATCCGCCCTCAGAC	0.557													T	206605324	C	T	206605324	3	4	604	1	0	0	0	0	1	0	0	0	10737	652	23	1	1258	1	NRP2	2	206605324	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	5126728	206605324	36594049	10	50381											
ALPP	250	broad.mit.edu	37	chr2	233246473	233246475	+	In_Frame_Del	DEL	CTG	CTG	-																															ttcctctgctggccgggaccCtgctgctgctggagacggcc																								rs1048998		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr2:233246473_233246475delCTG	ENST00000392027.2	+	11	1845_1847	c.1576_1578delCTG	c.(1576-1578)ctgdel	p.L529del		NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	529						anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GGCCGGGACCCTGCTGCTGCTGG	0.734													-	233246475	CTG	-	233246473	7	5	604	1	0	1	0	1	0	0	0	0	548	680	24	0	1618	0	ALPP	2	233246473	In_Frame_Del	DEL	CTG	TCGA-HT-A617-01A-11D-A29Q-08	26641149	233246473	9952900	11	50382											
CYP8B1	1582	broad.mit.edu	37	chr3	42916689	42916689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaaaagaaggtcaaacttgCggaactccatgaataactct	16	8	9	8	1	2	2	1	1	1	1	3	4	3	4	1	3	4	0	1	3	7	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:42916689C>T	ENST00000316161.4	-	1	944	c.620G>A	c.(619-621)cGc>cAc	p.R207H	RP11-141M3.5_ENST00000471537.1_RNA|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R207H|KRBOX1_ENST00000426937.1_Intron	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	207					bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		GTCAAACTTGCGGAACTCCAT	0.527													T	42916689	C	T	42916689	3	4	604	1	0	0	0	0	1	0	0	0	4231	768	27	1	889	1	CYP8B1	3	42916689	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		42916689	155105741	12	50383											
NISCH	11188	broad.mit.edu	37	chr3	52489675	52489675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatggcgaccgcgcgcacCttcgggcccgagcgggaagc	8	3	15	15	7	0	0	0	0	0	0	1	3	0	1	3	3	3	1	3	3	2	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:52489675C>T	ENST00000345716.4	+	1	152	c.18C>T	c.(16-18)acC>acT	p.T6T	NISCH_ENST00000420808.2_Silent_p.T6T|NISCH_ENST00000488380.1_Silent_p.T6T|NISCH_ENST00000479054.1_Silent_p.T6T	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	6	Necessary for binding to phosphoinositide-3-P; not sufficient for targeting to endosomes.				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		CCGCGCGCACCTTCGGGCCCG	0.746													T	52489675	C	T	52489675	2	4	604	1	0	0	0	0	0	0	0	1	10508	668	24	2		2	NISCH	3	52489675	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	9572986	52489675	145532755	13	50384											
GRAMD1C	54762	broad.mit.edu	37	chr3	113563352	113563352	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgatatttgtttccaggtGatgaatgaaggggattcaag	11	15	12	3	0	1	4	1	4	0	0	2	5	2	5	1	3	0	1	1	3	4	5			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr3:113563352G>T	ENST00000358160.4	+	2	522	c.30G>T	c.(28-30)gtG>gtT	p.V10V	GRAMD1C_ENST00000479212.1_3'UTR|GRAMD1C_ENST00000452134.2_5'UTR	NM_017577.4	NP_060047.3	Q8IYS0	GRM1C_HUMAN	GRAM domain containing 1C	10						integral to membrane				NS(1)|endometrium(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	26						GTTTCCAGGTGATGAATGAAG	0.318													T	113563352	G	T	113563352	2	4	604	1	0	0	0	0	0	0	0	1	6804	1277	45	4		4	GRAMD1C	3	113563352	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	61073677	113563352	84459078	14	50385											
ADD1	118	broad.mit.edu	37	chr4	2877687	2877687	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgacctcaccacccccGaccacagcccctcacaagga	10	4	8	19	1	2	1	2	1	0	0	2	3	2	2	7	2	1	0	7	2	1	0	rs140936293		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:2877687G>A	ENST00000355842.3	+	3	908	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ADD1_ENST00000264758.7_Silent_p.P15P|ADD1_ENST00000446856.1_Silent_p.P15P|ADD1_ENST00000513328.2_Silent_p.P15P|ADD1_ENST00000398129.1_Silent_p.P15P|ADD1_ENST00000398123.2_Silent_p.P15P|ADD1_ENST00000503455.2_Silent_p.P15P|ADD1_ENST00000398125.1_Silent_p.P15P			P35611	ADDA_HUMAN	adducin 1 (alpha)	15					actin filament bundle assembly|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|positive regulation of protein binding	cytosol|F-actin capping protein complex|nucleus|plasma membrane	actin filament binding|calmodulin binding|metal ion binding|protein heterodimerization activity|protein homodimerization activity|spectrin binding|transcription factor binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CACCACCCCCGACCACAGCCC	0.478													A	2877687	G	A	2877687	2	1	604	1	0	0	0	0	0	0	0	1	304	1045	37	1		1	ADD1	4	2877687	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		2877687	188276589	15	50386											
NFXL1	152518	broad.mit.edu	37	chr4	47850315	47850315	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttcctgttcttcttccgAcgacccttcagtctgttttc	3	19	5	14	2	4	0	1	0	3	0	7	2	6	0	3	0	0	2	3	0	0	8			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:47850315A>T	ENST00000507489.1	-	23	2777	c.2601T>A	c.(2599-2601)cgT>cgA	p.R867R	NFXL1_ENST00000381538.3_Silent_p.R867R	NM_001278624.1	NP_001265553.1	Q6ZNB6	NFXL1_HUMAN	nuclear transcription factor, X-box binding-like 1	867						integral to membrane|nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(4)	27						TCTTCTTCCGACGACCCTTCA	0.348													T	47850315	A	T	47850315	2	4	604	1	0	0	0	0	0	0	0	1	10464	262	10	5		5	NFXL1	4	47850315	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	44972628	47850315	143303961	16	50387											
TMEM150C	441027	broad.mit.edu	37	chr4	83417256	83417256	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taaggtcattccgaaggaagCcagacacagagccaccaatc	15	5	9	12	1	1	2	1	0	0	2	3	4	2	3	4	2	2	0	4	2	4	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:83417256C>T	ENST00000515780.2	-	6	532	c.328G>A	c.(328-330)Gct>Act	p.A110T	TMEM150C_ENST00000449862.2_Missense_Mutation_p.A110T|TMEM150C_ENST00000508701.1_Missense_Mutation_p.A110T|RP11-791G16.2_ENST00000488045.1_RNA			B9EJG8	T150C_HUMAN	transmembrane protein 150C							integral to membrane				ovary(1)	1						CCGAAGGAAGCCAGACACAGA	0.453													T	83417256	C	T	83417256	3	4	604	1	0	0	0	0	1	0	0	0	16169	739	26	2	433	2	TMEM150C	4	83417256	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08	35566941	83417256	107737020	17	50388											
DCLK2	166614	broad.mit.edu	37	chr4	151153904	151153904	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatggcagtgccatggtgtAcaacttagccaatgccctca	11	9	10	11	0	1	1	1	0	0	1	1	1	1	1	3	2	5	2	3	2	4	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr4:151153904A>G	ENST00000296550.7	+	10	2244	c.1490A>G	c.(1489-1491)tAc>tGc	p.Y497C	DCLK2_ENST00000302176.8_Missense_Mutation_p.Y514C|DCLK2_ENST00000506325.1_Missense_Mutation_p.Y496C	NM_001040260.3	NP_001035350.2	Q8N568	DCLK2_HUMAN	doublecortin-like kinase 2	497	Protein kinase.				intracellular signal transduction	cytoplasm|cytoskeleton	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(1)	26	all_hematologic(180;0.151)					GCCATGGTGTACAACTTAGCC	0.448													G	151153904	A	G	151153904	3	3	604	1	0	0	0	0	1	0	0	0	4326	391	14	3	1528	3	DCLK2	4	151153904	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	67736648	151153904	40000372	18	50389											
RELN	5649	broad.mit.edu	37	chr7	103132428	103132428	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttagtgtattccagcattaCggaatgaaggtcaccacaag	13	10	9	9	1	1	1	1	1	0	0	2	2	2	2	2	2	2	2	2	2	6	4			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:103132428C>T	ENST00000424685.2	-	58	9574	c.9415G>A	c.(9415-9417)Gta>Ata	p.V3139I	RELN_ENST00000428762.1_Missense_Mutation_p.V3139I|CTB-107G13.1_ENST00000422488.1_RNA|RELN_ENST00000343529.5_Missense_Mutation_p.V3139I			P78509	RELN_HUMAN	reelin	3139					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		TCCAGCATTACGGAATGAAGG	0.368													T	103132428	C	T	103132428	3	4	604	1	0	0	0	0	1	0	0	0	13308	536	19	1	999	1	RELN	7	103132428	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		103132428	56006235	19	50390											
AGAP3	116988	broad.mit.edu	37	chr7	150840451	150840451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagaaggaacgctggatacGggccaagtatgaacagaagc	15	4	15	7	2	0	3	0	1	0	2	0	6	0	5	1	4	4	2	1	4	7	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr7:150840451G>A	ENST00000397238.2	+	17	2297	c.2297G>A	c.(2296-2298)cGg>cAg	p.R766Q	AGAP3_ENST00000463381.1_Missense_Mutation_p.R435Q	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	730					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm|membrane	ARF GTPase activator activity|GTP binding|GTPase activity|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CGCTGGATACGGGCCAAGTAT	0.627													A	150840451	G	A	150840451	3	1	604	1	0	0	0	0	1	0	0	0	369	1116	39	1	2430	1	AGAP3	7	150840451	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	47708023	150840451	8298212	20	50391											
KCNU1	157855	broad.mit.edu	37	chr8	36671862	36671862	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gccaagacatccttaggacgGaccttcatcatgttcttcac	10	11	7	13	1	4	1	3	0	1	1	5	3	5	3	3	2	0	1	3	2	2	4			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:36671862G>T	ENST00000399881.3	+	8	907	c.870G>T	c.(868-870)cgG>cgT	p.R290R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	290						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCTTAGGACGGACCTTCATCA	0.353													T	36671862	G	T	36671862	2	4	604	1	0	0	0	0	0	0	0	1	8151	1161	41	4		4	KCNU1	8	36671862	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		36671862	109692160	21	50392											
PKHD1L1	93035	broad.mit.edu	37	chr8	110468612	110468612	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacattgtaattgcaagcacAggacacaggtatgatatctt	15	11	8	7	0	1	1	0	1	1	0	1	2	1	2	0	2	3	4	0	2	5	6			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr8:110468612A>G	ENST00000378402.5	+	46	7100	c.6996A>G	c.(6994-6996)acA>acG	p.T2332T		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2332					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTGCAAGCACAGGACACAGGT	0.368										HNSCC(38;0.096)			G	110468612	A	G	110468612	2	3	604	1	0	0	0	0	0	0	0	1	12049	175	7	3		3	PKHD1L1	8	110468612	Silent	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08	73796750	110468612	35895410	22	50393											
COL5A1	1289	broad.mit.edu	37	chr9	137704486	137704486	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcccccgaggaccctcCggagctccaggtgctgatgg	5	6	14	16	2	0	1	0	1	0	0	2	4	2	3	6	5	2	2	6	5	0	0	rs150591401	byFrequency	TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr9:137704486C>T	ENST00000371817.3	+	48	4194	c.3780C>T	c.(3778-3780)tcC>tcT	p.S1260S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	1260	Triple-helical region.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GAGGACCCTCCGGAGCTCCAG	0.637													T	137704486	C	T	137704486	2	4	604	1	0	0	0	0	0	0	0	1	3727	639	23	1		1	COL5A1	9	137704486	Silent	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		137704486	3508945	23	50394											
ABTB2	25841	broad.mit.edu	37	chr11	34184211	34184211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggccttggtgcgggtccgGctcagccgcacgggcccctc	3	6	16	16	4	1	0	1	0	0	0	3	0	2	0	5	5	2	2	5	5	0	1			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr11:34184211G>A	ENST00000435224.2	-	10	2554	c.2130C>T	c.(2128-2130)agC>agT	p.S710S	ABTB2_ENST00000298992.2_Silent_p.S524S	NM_145804.2	NP_665803.2	A8K6S9	A8K6S9_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	524							DNA binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TGCGGGTCCGGCTCAGCCGCA	0.662													A	34184211	G	A	34184211	2	1	604	1	0	0	0	0	0	0	0	1	103	1194	42	2		2	ABTB2	11	34184211	Silent	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		34184211	100822305	24	50395											
ATF7IP2	80063	broad.mit.edu	37	chr16	10524502	10524502	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtccagatagaagtaaaCggaagatattaaaagccaaa	21	6	8	6	1	0	3	0	0	0	3	1	4	1	4	2	1	2	1	2	1	10	4	rs140651559		TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:10524502C>T	ENST00000396560.2	+	3	252	c.25C>T	c.(25-27)Cgg>Tgg	p.R9W	ATF7IP2_ENST00000356427.2_Missense_Mutation_p.R9W|ATF7IP2_ENST00000324570.5_Missense_Mutation_p.R9W|ATF7IP2_ENST00000543967.1_Intron|ATF7IP2_ENST00000396559.1_Missense_Mutation_p.R9W	NM_024997.3	NP_079273.2	Q5U623	MCAF2_HUMAN	activating transcription factor 7 interacting protein 2	9					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				large_intestine(3)	3						TAGAAGTAAACGGAAGATATT	0.348													T	10524502	C	T	10524502	3	4	604	1	0	0	0	0	1	0	0	0	1093	527	19	1	27	1	ATF7IP2	16	10524502	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		10524502	79830251	25	50396											
CDH1	999	broad.mit.edu	37	chr16	68846137	68846137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcacagtcactgacaccaacGataatcctccgatcttcaat	13	10	4	14	2	4	1	3	1	1	0	6	3	6	1	3	0	1	0	3	0	3	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:68846137G>A	ENST00000261769.5	+	8	1299	c.1108G>A	c.(1108-1110)Gat>Aat	p.D370N	CDH1_ENST00000422392.2_Missense_Mutation_p.D370N|CDH1_ENST00000562836.1_3'UTR	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	370	Cadherin 2.		D -> A (in a diffuse gastric cancer sample).		adherens junction organization|cellular component disassembly involved in apoptosis|cellular response to indole-3-methanol|cellular response to lithium ion|homophilic cell adhesion|negative regulation of cell-cell adhesion|positive regulation of transcription factor import into nucleus|positive regulation of transcription, DNA-dependent|regulation of immune response	actin cytoskeleton|aggresome|apical junction complex|catenin complex|cell-cell adherens junction|endosome|focal adhesion|Golgi apparatus|integral to membrane|internal side of plasma membrane|lateral plasma membrane|perinuclear region of cytoplasm	cell adhesion molecule binding|gamma-catenin binding	p.D370H(3)|p.S337_T379del(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TGACACCAACGATAATCCTCC	0.458			"Mis, N, F, S"		"lobular breast, gastric"	gastric			Hereditary Diffuse Gastric Cancer				A	68846137	G	A	68846137	3	1	604	1	0	0	0	0	1	0	0	0	3125	1058	37	1	1138	1	CDH1	16	68846137	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08	58321635	68846137	21508616	26	50397											
PKD1L2	114780	broad.mit.edu	37	chr16	81155068	81155069	+	RNA	INS	-	-	A																															ggtgacagagactccatctcINSaaaaaaaaaaaggaaaaaat																										TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr16:81155068_81155069insA	ENST00000534142.1	-	0	1000				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						gactccatctcaaaaaaaaaaa	0.525													A	81155069	-	A	81155068	6	5	604	0	1	1	1	0	0	0	0	0	12042	841	29	0		0	PKD1L2	16	81155068	RNA	INS	-	TCGA-HT-A617-01A-11D-A29Q-08	12308931	81155068	9199685	27	50398											
MED1	5469	broad.mit.edu	37	chr17	37565209	37565209	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgctgcctgaggaagacaCagaaccactgctggtatact	11	10	10	10	0	0	3	0	1	0	2	0	4	0	4	2	2	5	3	2	2	4	3			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr17:37565209C>T	ENST00000300651.6	-	17	3488	c.3265G>A	c.(3265-3267)Gtg>Atg	p.V1089M	MED1_ENST00000394287.3_Intron	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	1089	Ser-rich.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		GAGGAAGACACAGAACCACTG	0.488										HNSCC(31;0.082)			T	37565209	C	T	37565209	3	4	604	1	0	0	0	0	1	0	0	0	9500	478	17	2	1484	2	MED1	17	37565209	Missense_Mutation	SNP	C	TCGA-HT-A617-01A-11D-A29Q-08		37565209	43630001	28	50399											
C22orf42	150297	broad.mit.edu	37	chr22	32550285	32550285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatattatttttaaccagcGcttggagcgggcgtccaaac	10	11	9	11	3	0	0	0	0	0	0	1	1	1	1	3	2	4	1	3	2	4	6			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chr22:32550285G>A	ENST00000382097.3	-	2	325	c.253C>T	c.(253-255)Cgc>Tgc	p.R85C		NM_001010859.1	NP_001010859.1	Q6IC83	CV042_HUMAN	chromosome 22 open reading frame 42	85										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(2)	24						TTTAACCAGCGCTTGGAGCGG	0.393													A	32550285	G	A	32550285	3	1	604	1	0	0	0	0	1	0	0	0	2170	1087	38	1	534	1	C22orf42	22	32550285	Missense_Mutation	SNP	G	TCGA-HT-A617-01A-11D-A29Q-08		32550285	18754281	29	50400											
SHROOM2	357	broad.mit.edu	37	chrX	9900906	9900906	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatccaggatgaggattcaAccaggtactgtcctgcgacg	10	9	11	11	2	2	1	2	1	0	0	4	4	4	3	3	3	3	1	3	3	2	2			TCGA-HT-A617-01A-11D-A29Q-08	TCGA-HT-A617-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	98008bb2-3c35-4a4f-b0a0-b80858eb1e21	9197147d-0b09-40ac-b6f3-ecaeb806034c	g.chrX:9900906A>G	ENST00000380913.3	+	6	3673	c.3583A>G	c.(3583-3585)Acc>Gcc	p.T1195A	SHROOM2_ENST00000418909.2_Missense_Mutation_p.T30A|SHROOM2_ENST00000493668.1_3'UTR	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1195					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				TGAGGATTCAACCAGGTACTG	0.627													G	9900906	A	G	9900906	3	3	604	1	0	0	0	0	1	0	0	0	14388	43	2	3	3605	3	SHROOM2	23	9900906	Missense_Mutation	SNP	A	TCGA-HT-A617-01A-11D-A29Q-08		9900906	145369654	30	50401											
ABCA4	24	broad.mit.edu	37	chr1	94480119	94480119	+	Nonsense_Mutation	SNP	C	C	A																															ccggttattctcaaataattCcaagatgaaggtaatagcac																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480119C>A	ENST00000370225.3	-	38	5526	c.5440G>T	c.(5440-5442)Gaa>Taa	p.E1814*	ABCA4_ENST00000536513.1_Nonsense_Mutation_p.E84*	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1814					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TCAAATAATTCCAAGATGAAG	0.438													A	94480119	C	A	94480119	4	1	605	1	0	0	0	0	0	1	0	0	34	864	30	4	1433	4	ABCA4	1	94480119	Nonsense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		94480119	154770502	1	50402	160	2									
ABCA4	24	broad.mit.edu	37	chr1	94480120	94480120	+	Missense_Mutation	SNP	C	C	A																															cggttattctcaaataattcCaagatgaaggtaatagcact																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:94480120C>A	ENST00000370225.3	-	38	5525	c.5439G>T	c.(5437-5439)ttG>ttT	p.L1813F	ABCA4_ENST00000536513.1_Missense_Mutation_p.L83F	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	1813					phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		CAAATAATTCCAAGATGAAGG	0.438													A	94480120	C	A	94480120	3	1	605	1	0	0	0	0	1	0	0	0	34	593	21	4	1434	4	ABCA4	1	94480120	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	1	94480120	154770501	2	50403	160	2									
FLG	2312	broad.mit.edu	37	chr1	152282080	152282080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtagaggaaagaccctgaaCgtccagacctttcccctgac	11	7	10	13	1	0	5	0	2	0	3	2	6	2	6	5	2	1	1	5	2	3	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:152282080C>T	ENST00000368799.1	-	3	5317	c.5282G>A	c.(5281-5283)cGt>cAt	p.R1761H	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1761	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGACCCTGAACGTCCAGACCT	0.602									Ichthyosis				T	152282080	C	T	152282080	3	4	605	1	0	0	0	0	1	0	0	0	5971	536	19	1	6907	1	FLG	1	152282080	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	57801960	152282080	96968541	3	50404											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	4	6	21	10	2	0	0	0	0	0	0	1	2	0	1	2	8	1	2	2	8	0	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000368389.2_Intron|MUC1_ENST00000342482.4_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368390.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000457295.2_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								G	155161799	T	G	155161799	3	3	605	1	0	0	0	0	1	0	0	0	10046	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	2879719	155161799	94088822	4	50405											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	13	2	6	20	0	0	1	0	0	0	1	0	2	0	2	8	1	4	2	8	1	3	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	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.T597P(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						ACCCACCACCACCAAGAAGCC	0.652													C	186276640	A	C	186276640	3	2	605	1	0	0	0	0	1	0	0	0	12567	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	31114841	186276640	62973981	5	50406											
OR2M2	391194	broad.mit.edu	37	chr1	248343709	248343709	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcatgaatcctaaaatttGtggacttatggctaccttct	10	16	6	9	0	2	1	1	1	2	0	4	2	3	2	2	2	1	1	2	2	5	5			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr1:248343709G>T	ENST00000359682.2	+	1	422	c.422G>T	c.(421-423)tGt>tTt	p.C141F		NM_001004688.1	NP_001004688.1	Q96R28	OR2M2_HUMAN	olfactory receptor, family 2, subfamily M, member 2	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(45)|ovary(3)|prostate(1)|skin(3)	70	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			CCTAAAATTTGTGGACTTATG	0.423													T	248343709	G	T	248343709	3	4	605	1	0	0	0	0	1	0	0	0	11086	1377	48	4	424	4	OR2M2	1	248343709	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	62067069	248343709	906912	6	50407											
APOB	338	broad.mit.edu	37	chr2	21228468	21228468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtcaagtttgcacgatggaaCctgaagatctgtaaatggga	13	10	12	6	1	2	2	1	1	1	1	2	5	2	4	1	2	2	3	1	2	5	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:21228468C>A	ENST00000233242.1	-	26	11399	c.11272G>T	c.(11272-11274)Gtt>Ttt	p.V3758F		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3758					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CACGATGGAACCTGAAGATCT	0.388													A	21228468	C	A	21228468	3	1	605	1	0	0	0	0	1	0	0	0	788	507	18	4	2435	4	APOB	2	21228468	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		21228468	221970905	7	50408											
CGREF1	10669	broad.mit.edu	37	chr2	27325300	27325300	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taggtagctctgcagaagtcTgtcagaaaagtggagaatca	14	9	12	6	0	4	3	2	0	2	3	4	4	4	3	0	2	2	3	0	2	6	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:27325300T>C	ENST00000402394.1	-	4	415		c.e4-2		CGREF1_ENST00000405600.1_Splice_Site|CGREF1_ENST00000260595.5_Splice_Site|CGREF1_ENST00000404694.3_Splice_Site|CGREF1_ENST00000402550.1_Splice_Site|CGREF1_ENST00000452318.2_Splice_Site|CGREF1_ENST00000312734.4_Splice_Site	NM_006569.5	NP_006560.3	Q99674	CGRE1_HUMAN	cell growth regulator with EF-hand domain 1						cell adhesion|cell cycle arrest|negative regulation of cell proliferation|response to stress	extracellular region	calcium ion binding			kidney(1)|lung(4)|ovary(1)|prostate(2)|skin(1)|soft_tissue(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCAGAAGTCTGTCAGAAAAG	0.617													C	27325300	T	C	27325300	5	2	605	1	0	0	0	0	0	0	1	0	3335	1594	55	3	1015	3	CGREF1	2	27325300	Splice_Site	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	6096832	27325300	215874073	8	50409											
TTN	7273	broad.mit.edu	37	chr2	179430063	179430063	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtgcaaaacagttgaggtAgctgtttcttcaacgtttac	11	14	9	7	1	2	1	1	1	1	0	2	1	2	1	0	1	5	6	0	1	5	6			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr2:179430063A>T	ENST00000589042.1	-	326	81020	c.80796T>A	c.(80794-80796)gcT>gcA	p.A26932A	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.A25291A|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.A17992A|TTN_ENST00000342175.6_Silent_p.A18059A|TTN_ENST00000342992.6_Silent_p.A24364A|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000460472.2_Silent_p.A17867A|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25291	Fibronectin type-III 96.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CAGTTGAGGTAGCTGTTTCTT	0.398													T	179430063	A	T	179430063	2	4	605	1	0	0	0	0	0	0	0	1	16837	407	15	5		5	TTN	2	179430063	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	152104763	179430063	63769310	9	50410											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	605	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	29683049	209113112	34086261	10	50411											
POLN	353497	broad.mit.edu	37	chr4	2073954	2073954	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcgacatgggcctggcggagGgccccaggcctcctgcagtg	5	5	17	14	2	0	0	0	0	0	0	1	2	1	1	5	5	1	1	5	5	0	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2073954G>A	ENST00000511885.2	-	26	2943	c.2590C>T	c.(2590-2592)Cct>Tct	p.P864S	POLN_ENST00000382865.1_Missense_Mutation_p.P864S			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	864					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			CCTGGCGGAGGGCCCCAGGCC	0.692								DNA polymerases (catalytic subunits)					A	2073954	G	A	2073954	3	1	605	1	0	0	0	0	1	0	0	0	12284	1232	43	2	116	2	POLN	4	2073954	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		2073954	189080322	11	50412											
SH3BP2	6452	broad.mit.edu	37	chr4	2834097	2834097	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccggggagagccccaggaTggactctactgcatccggaa	9	5	13	14	2	1	1	0	0	1	1	2	5	2	4	5	5	3	1	5	5	2	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:2834097T>A	ENST00000442312.2	+	11	1709	c.1530T>A	c.(1528-1530)gaT>gaA	p.D510E	SH3BP2_ENST00000452765.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000435136.2_Missense_Mutation_p.D482E|SH3BP2_ENST00000503393.2_Missense_Mutation_p.D539E|SH3BP2_ENST00000356331.5_Missense_Mutation_p.D482E|SH3BP2_ENST00000511747.1_Missense_Mutation_p.D482E	NM_001145855.1	NP_001139327.1	P78314	3BP2_HUMAN	SH3-domain binding protein 2	482	SH2.				signal transduction		SH3 domain binding|SH3/SH2 adaptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		AGCCCCAGGATGGACTCTACT	0.592									Cherubism				A	2834097	T	A	2834097	3	1	605	1	0	0	0	0	1	0	0	0	14338	1461	51	5	1743	5	SH3BP2	4	2834097	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	760143	2834097	188320179	12	50413											
FBXW7	55294	broad.mit.edu	37	chr4	153244137	153244137	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttgaggctctgatccGccacacaactcccccactcc	7	10	7	17	1	1	2	0	2	1	0	4	2	4	2	5	1	1	2	5	1	1	1	rs140856583	byFrequency	TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr4:153244137G>A	ENST00000281708.4	-	12	3249	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	FBXW7_ENST00000603841.1_Missense_Mutation_p.R674W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R594W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R674W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R556W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R498W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	674					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GCTCTGATCCGCCACACAACT	0.493			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								A	153244137	G	A	153244137	3	1	605	1	0	0	0	0	1	0	0	0	5818	1086	38	1	107	1	FBXW7	4	153244137	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	150410040	153244137	37910139	13	50414											
TBP	6908	broad.mit.edu	37	chr6	170871040	170871040	+	Silent	SNP	A	A	G																															cagcagcagcagcagcagcaAcagcaacagcagcagcagca																								rs10592950		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871040A>G	ENST00000392092.2	+	3	495	c.216A>G	c.(214-216)caA>caG	p.Q72Q	TBP_ENST00000230354.6_Silent_p.Q72Q|TBP_ENST00000540980.1_Silent_p.Q52Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	72	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q72del(3)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcaacagcaacagc	0.567													G	170871040	A	G	170871040	2	3	605	1	0	0	0	0	0	0	0	1	15744	40	2	3		3	TBP	6	170871040	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		170871040	244027	14	50415	161	2									
TBP	6908	broad.mit.edu	37	chr6	170871046	170871046	+	Silent	SNP	A	A	G																															cagcagcagcagcaacagcaAcagcagcagcagcagcagca																								rs10592951		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr6:170871046A>G	ENST00000392092.2	+	3	501	c.222A>G	c.(220-222)caA>caG	p.Q74Q	TBP_ENST00000230354.6_Silent_p.Q74Q|TBP_ENST00000540980.1_Silent_p.Q54Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	74	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcaacagcaacagcagcagc	0.567													G	170871046	A	G	170871046	2	3	605	1	0	0	0	0	0	0	0	1	15744	40	2	3		3	TBP	6	170871046	Silent	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08	6	170871046	244021	15	50416	161	2									
PCLO	27445	broad.mit.edu	37	chr7	82583285	82583285	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctactttttgttcgttcGgcctccaactcctttttatc	6	18	5	12	2	0	0	0	0	0	0	5	0	2	0	3	1	3	3	3	1	4	8			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:82583285G>A	ENST00000333891.9	-	5	7321	c.6984C>T	c.(6982-6984)gcC>gcT	p.A2328A	PCLO_ENST00000423517.2_Silent_p.A2328A	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	p.A2328A(2)|p.A2259A(1)		breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGTTCGTTCGGCCTCCAACT	0.413													A	82583285	G	A	82583285	2	1	605	1	0	0	0	0	0	0	0	1	11659	1103	39	1		1	PCLO	7	82583285	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		82583285	76555378	16	50417											
EPHB4	2050	broad.mit.edu	37	chr7	100421497	100421497	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcacgctgcacgtcacaCacttcgtaggtgcgcacgct	7	7	13	14	5	1	0	1	0	0	0	2	0	1	0	0	3	2	6	0	3	1	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr7:100421497C>A	ENST00000358173.3	-	3	648	c.180G>T	c.(178-180)gtG>gtT	p.V60V	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Silent_p.V60V	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	60					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCACGTCACACACTTCGTAGG	0.682													A	100421497	C	A	100421497	2	1	605	1	0	0	0	0	0	0	0	1	5218	465	17	4		4	EPHB4	7	100421497	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	17838212	100421497	58717166	17	50418											
PI15	51050	broad.mit.edu	37	chr8	75756325	75756325	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccaaaatctatctgtacGcactggaaggtaggaagtaa	14	8	12	7	1	2	0	0	0	2	0	2	2	2	2	1	4	1	4	1	4	8	4			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:75756325G>A	ENST00000260113.2	+	3	562	c.383G>A	c.(382-384)cGc>cAc	p.R128H	RP11-758M4.4_ENST00000518128.1_RNA|PI15_ENST00000523773.1_Missense_Mutation_p.R128H|RP11-758M4.4_ENST00000523860.1_RNA	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	128						extracellular region	peptidase inhibitor activity	p.R128H(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			CTATCTGTACGCACTGGAAGG	0.408													A	75756325	G	A	75756325	3	1	605	1	0	0	0	0	1	0	0	0	11945	1087	38	1	389	1	PI15	8	75756325	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		75756325	70607697	18	50419											
KCNQ3	3786	broad.mit.edu	37	chr8	133192522	133192522	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcagggaggtggccagaacaTtgccttggtttcccacagca	9	8	13	11	0	0	1	0	0	0	1	1	2	1	2	3	4	3	3	3	4	1	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr8:133192522T>C	ENST00000388996.4	-	4	1079	c.659A>G	c.(658-660)aAt>aGt	p.N220S	KCNQ3_ENST00000521134.1_Missense_Mutation_p.N100S|KCNQ3_ENST00000519445.1_Missense_Mutation_p.N220S	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	220					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			GGCCAGAACATTGCCTTGGTT	0.597													C	133192522	T	C	133192522	3	2	605	1	0	0	0	0	1	0	0	0	8142	1493	52	3	2007	3	KCNQ3	8	133192522	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	57436197	133192522	13171500	19	50420											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18829917	18829917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaccgaaccttccttcagtGctgacgtctcctctgggaac	7	10	10	14	2	3	1	1	1	2	0	5	4	4	3	4	2	3	1	4	2	2	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr9:18829917G>A	ENST00000380548.4	+	23	4530	c.4191G>A	c.(4189-4191)gtG>gtA	p.V1397V	ADAMTSL1_ENST00000380545.5_Silent_p.V98V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1397	Ig-like C2-type 4.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		TTCCTTCAGTGCTGACGTCTC	0.572													A	18829917	G	A	18829917	2	1	605	1	0	0	0	0	0	0	0	1	274	1306	46	2		2	ADAMTSL1	9	18829917	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		18829917	122383514	20	50421											
LRIT2	340745	broad.mit.edu	37	chr10	85984831	85984832	+	Frame_Shift_Ins	INS	-	-	G																															actcttcagaaaggttcccaINSgggatctttcccaaggagac																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr10:85984831_85984832insG	ENST00000372113.4	-	2	154_155	c.149_150insC	c.(148-150)cctfs	p.P50fs	LRIT2_ENST00000538192.1_Frame_Shift_Ins_p.P50fs	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	50	LRRNT.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						AAAGGTTCCCAGGGATCTTTCC	0.455													G	85984832	-	G	85984831	7	5	605	1	0	1	1	0	0	0	0	0	9018	175	7	0	1510	0	LRIT2	10	85984831	Frame_Shift_Ins	INS	-	TCGA-HT-A618-01A-11D-A29Q-08		85984831	49549916	21	50422											
OR4A15	81328	broad.mit.edu	37	chr11	55136013	55136013	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttattgaaacttgcttgcacCaatacctatgtcactgggct	10	14	7	10	0	1	1	1	1	0	0	1	1	1	1	2	1	4	3	2	1	5	6			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:55136013C>A	ENST00000314706.3	+	1	654	c.654C>A	c.(652-654)acC>acA	p.T218T		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	218					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						TTGCTTGCACCAATACCTATG	0.413													A	55136013	C	A	55136013	2	1	605	1	0	0	0	0	0	0	0	1	11116	581	21	4		4	OR4A15	11	55136013	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		55136013	79870503	22	50423											
OR5M11	219487	broad.mit.edu	37	chr11	56310051	56310051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgccttccctctgctgatTtgatccggaggatggcagca	6	12	12	11	1	1	2	0	2	1	0	3	4	3	4	3	3	3	3	3	3	0	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:56310051T>C	ENST00000528616.2	-	1	706	c.683A>G	c.(682-684)aAa>aGa	p.K228R		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	228					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTCTGCTGATTTGATCCGGAG	0.498													C	56310051	T	C	56310051	3	2	605	1	0	0	0	0	1	0	0	0	11250	1841	64	3	237	3	OR5M11	11	56310051	Missense_Mutation	SNP	T	TCGA-HT-A618-01A-11D-A29Q-08	1174038	56310051	78696465	23	50424											
APLNR	187	broad.mit.edu	37	chr11	57003704	57003704	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtagggcatccagcacaGggcaaaggtcaccaccagca	12	4	13	12	0	1	0	1	0	0	0	2	0	2	0	3	4	2	5	3	4	2	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:57003704G>T	ENST00000606794.1	-	1	971	c.775C>A	c.(775-777)Ctg>Atg	p.L259M		NM_005161.4	NP_005152.1	P35414	APJ_HUMAN	apelin receptor	259						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32						ATCCAGCACAGGGCAAAGGTC	0.612													T	57003704	G	T	57003704	3	4	605	1	0	0	0	0	1	0	0	0	780	991	35	4	371	4	APLNR	11	57003704	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	693653	57003704	78002812	24	50425											
SIPA1	6494	broad.mit.edu	37	chr11	65408860	65408860	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggaccaggctgccagctcGgacctgctgcatggggcacc	7	5	15	14	1	0	0	0	0	0	0	1	3	0	2	4	5	4	5	4	5	0	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr11:65408860G>A	ENST00000394224.3	+	2	764	c.468G>A	c.(466-468)tcG>tcA	p.S156S	SIPA1_ENST00000534313.1_Silent_p.S156S|SIPA1_ENST00000527525.1_Silent_p.S156S|SIPA1_ENST00000394227.3_Silent_p.S156S	NM_153253.29	NP_694985.29	Q96FS4	SIPA1_HUMAN	signal-induced proliferation-associated 1	156					cell proliferation|cytoskeleton organization|intracellular signal transduction|negative regulation of cell adhesion|negative regulation of cell cycle|negative regulation of cell growth	cytosol|endomembrane system|membrane|perinuclear region of cytoplasm	Rap GTPase activator activity			cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	10						CTGCCAGCTCGGACCTGCTGC	0.667													A	65408860	G	A	65408860	2	1	605	1	0	0	0	0	0	0	0	1	14422	1103	39	1		1	SIPA1	11	65408860	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08	8405156	65408860	69597656	25	50426											
USP44	84101	broad.mit.edu	37	chr12	95914959	95914959	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaacaccaatcttctctcGgttattacgtcctgaccacc	10	12	5	14	2	2	2	0	2	2	0	5	2	3	2	4	1	2	1	4	1	4	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr12:95914959G>A	ENST00000258499.3	-	5	2041	c.1753C>T	c.(1753-1755)Cga>Tga	p.R585*	USP44_ENST00000537435.2_Nonsense_Mutation_p.R585*|USP44_ENST00000552440.1_Intron|USP44_ENST00000393091.2_Nonsense_Mutation_p.R585*	NM_001278393.1|NM_032147.2	NP_001265322.1|NP_115523.2	Q9H0E7	UBP44_HUMAN	ubiquitin specific peptidase 44	585					anaphase|cell division|mitosis|negative regulation of mitotic anaphase-promoting complex activity|protein deubiquitination|regulation of spindle checkpoint|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(5)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	36						ATCTTCTCTCGGTTATTACGT	0.423													A	95914959	G	A	95914959	4	1	605	1	0	0	0	0	0	1	0	0	17177	1124	39	1	393	1	USP44	12	95914959	Nonsense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		95914959	37936936	26	50427											
PCNX	22990	broad.mit.edu	37	chr14	71443880	71443880	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacactcacactcttatagaAaagaccaccggccgcgaggt	13	7	8	13	3	2	2	1	0	1	2	2	3	2	2	3	2	1	0	3	2	5	3			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr14:71443880A>T	ENST00000304743.2	+	6	1272	c.826A>T	c.(826-828)Aaa>Taa	p.K276*	PCNX_ENST00000238570.5_Nonsense_Mutation_p.K276*|PCNX_ENST00000439984.3_Nonsense_Mutation_p.K276*	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	276						integral to membrane				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		CTCTTATAGAAAAGACCACCG	0.493													T	71443880	A	T	71443880	4	4	605	1	0	0	0	0	0	1	0	0	11667	15	1	5	848	5	PCNX	14	71443880	Nonsense_Mutation	SNP	A	TCGA-HT-A618-01A-11D-A29Q-08		71443880	35905660	27	50428											
THSD4	79875	broad.mit.edu	37	chr15	72040864	72040864	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcaacatgaagctccggccGaatgacattgagaactgcga	13	7	11	10	3	0	3	0	3	0	1	1	6	1	3	2	1	5	2	2	1	4	1			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:72040864G>A	ENST00000355327.3	+	14	2480	c.2346G>A	c.(2344-2346)ccG>ccA	p.P782P	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000261862.6_Silent_p.P782P|THSD4_ENST00000357769.4_Silent_p.P422P			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	782	TSP type-1 3.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGCTCCGGCCGAATGACATTG	0.597													A	72040864	G	A	72040864	2	1	605	1	0	0	0	0	0	0	0	1	15978	1045	37	1		1	THSD4	15	72040864	Silent	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		72040864	30490528	28	50429											
ARRDC4	91947	broad.mit.edu	37	chr15	98504133	98504133	+	Frame_Shift_Del	DEL	G	G	-																															gcggcggccgtgggtgccgaGggccgcgtgaagagcctggg																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr15:98504133delG	ENST00000268042.6	+	1	206	c.42delG	c.(40-42)gagfs	p.E14fs	ARRDC4_ENST00000538249.1_Intron	NM_183376.2	NP_899232.2	Q8NCT1	ARRD4_HUMAN	arrestin domain containing 4	14					signal transduction					breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|skin(3)	16	Melanoma(26;0.00539)|Lung NSC(78;0.0125)|all_lung(78;0.0222)		OV - Ovarian serous cystadenocarcinoma(32;0.0417)			TGGGTGCCGAGGGCCGCGTGA	0.741													-	98504133	G	-	98504133	7	5	605	1	0	1	0	1	0	0	0	0	990	991	35	0	44	0	ARRDC4	15	98504133	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	26463269	98504133	4027259	29	50430											
CDH8	1006	broad.mit.edu	37	chr16	61891032	61891032	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggccacaaacctgtttcagGctcaatggaaaaataaggct	15	8	9	9	0	2	0	2	0	0	0	2	1	2	1	2	4	1	3	2	4	5	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr16:61891032G>A	ENST00000577390.1	-	4	1612	c.658C>T	c.(658-660)Cct>Tct	p.P220S	CDH8_ENST00000584337.1_Missense_Mutation_p.P220S|CDH8_ENST00000299345.6_Missense_Mutation_p.P220S|CDH8_ENST00000577730.1_Missense_Mutation_p.P220S	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2	220	Cadherin 2.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		CCTGTTTCAGGCTCAATGGAA	0.393													A	61891032	G	A	61891032	3	1	605	1	0	0	0	0	1	0	0	0	3146	1203	42	2	1777	2	CDH8	16	61891032	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		61891032	28463721	30	50431											
TP53	7157	broad.mit.edu	37	chr17	7577094	7577094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctcttcctctgtgcgccGgtctctcccaggacaggcac	5	11	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	0	2	rs28934574		TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:7577094G>A	ENST00000420246.2	-	8	976	c.844C>T	c.(844-846)Cgg>Tgg	p.R282W	TP53_ENST00000269305.4_Missense_Mutation_p.R282W|TP53_ENST00000445888.2_Missense_Mutation_p.R282W|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R282W|TP53_ENST00000455263.2_Missense_Mutation_p.R282W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	282	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		DR -> EW (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934574).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R282W(401)|p.R282G(29)|p.0?(8)|p.R282fs*24(4)|p.R282R(3)|p.?(2)|p.D281fs*63(2)|p.D281_R282>EW(2)|p.A276_R283delACPGRDRR(1)|p.D281_R282insXX(1)|p.C275fs*20(1)|p.R282_E287delRRTEEE(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.R282fs*63(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTGTGCGCCGGTCTCTCCCA	0.557		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)			A	7577094	G	A	7577094	3	1	605	1	0	0	0	0	1	0	0	0	16482	1115	39	1	442	1	TP53	17	7577094	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		7577094	73618116	31	50432											
ITGB4	3691	broad.mit.edu	37	chr17	73736512	73736512	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcctgacactcgggagtgCgcccagctgcgccaggaggt	8	5	15	13	3	0	1	0	1	0	0	1	3	0	3	3	3	4	1	3	3	1	0			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:73736512C>T	ENST00000200181.3	+	21	2707	c.2520C>T	c.(2518-2520)tgC>tgT	p.C840C	ITGB4_ENST00000579662.1_Silent_p.C840C|ITGB4_ENST00000450894.3_Silent_p.C840C|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Silent_p.C840C|ITGB4_ENST00000449880.2_Silent_p.C840C	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	840					cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTCGGGAGTGCGCCCAGCTGC	0.662													T	73736512	C	T	73736512	2	4	605	1	0	0	0	0	0	0	0	1	7955	776	27	1		1	ITGB4	17	73736512	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08	66159418	73736512	7458698	32	50433											
TNRC6C	57690	broad.mit.edu	37	chr17	76047335	76047335	+	Frame_Shift_Del	DEL	G	G	-																															tgatgatggtacctcagcttGgggggacccaagcaactata																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr17:76047335delG	ENST00000335749.4	+	3	2761	c.2192delG	c.(2191-2193)tggfs	p.W731fs	TNRC6C_ENST00000588061.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000301624.4_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000544502.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000541771.1_Frame_Shift_Del_p.W731fs|TNRC6C_ENST00000588847.1_Frame_Shift_Del_p.W731fs	NM_001142640.1	NP_001136112.1	Q9HCJ0	TNR6C_HUMAN	trinucleotide repeat containing 6C	731	Sufficient for interaction with argonaute family proteins.				gene silencing by RNA|regulation of translation		nucleotide binding|RNA binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	40			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			ACCTCAGCTTGGGGGGACCCA	0.507													-	76047335	G	-	76047335	7	5	605	1	0	1	0	1	0	0	0	0	16442	1357	47	0	2194	0	TNRC6C	17	76047335	Frame_Shift_Del	DEL	G	TCGA-HT-A618-01A-11D-A29Q-08	2310823	76047335	5147875	33	50434											
RFX2	5990	broad.mit.edu	37	chr19	6013017	6013017	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggcttctggtgcatgggCtgctgccgcatggccatgta	4	11	15	11	1	1	0	0	0	1	0	1	0	1	0	2	4	3	6	2	4	1	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr19:6013017C>T	ENST00000303657.5	-	8	1028	c.879G>A	c.(877-879)caG>caA	p.Q293Q	RFX2_ENST00000592546.1_Silent_p.Q268Q|RFX2_ENST00000359161.3_Silent_p.Q293Q|CTC-232P5.1_ENST00000587836.1_RNA	NM_000635.3	NP_000626.2	P48378	RFX2_HUMAN	regulatory factor X, 2 (influences HLA class II expression)	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						GGTGCATGGGCTGCTGCCGCA	0.612													T	6013017	C	T	6013017	2	4	605	1	0	0	0	0	0	0	0	1	13351	796	28	2		2	RFX2	19	6013017	Silent	SNP	C	TCGA-HT-A618-01A-11D-A29Q-08		6013017	53115966	34	50435											
CDH4	1002	broad.mit.edu	37	chr20	60503304	60503304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctatctcattgacatcaacGacaacgcccctgagctgctg	10	10	7	14	2	3	2	2	2	2	0	4	3	3	2	2	0	4	2	2	0	3	2			TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chr20:60503304G>A	ENST00000360469.5	+	12	1916	c.1828G>A	c.(1828-1830)Gac>Aac	p.D610N	CDH4_ENST00000543233.1_Missense_Mutation_p.D536N	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	610	Cadherin 4.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			TGACATCAACGACAACGCCCC	0.622													A	60503304	G	A	60503304	3	1	605	1	0	0	0	0	1	0	0	0	3142	1058	37	1	1874	1	CDH4	20	60503304	Missense_Mutation	SNP	G	TCGA-HT-A618-01A-11D-A29Q-08		60503304	2522216	35	50436											
ATRX	546	broad.mit.edu	37	chrX	76939387	76939387	+	Frame_Shift_Del	DEL	T	T	-																															ctgactttgaaatatccttcTtttccaaagcacaaggtttt																										TCGA-HT-A618-01A-11D-A29Q-08	TCGA-HT-A618-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	49fd71af-f8af-43dd-a5d6-caa20d4f82e4	193f9709-5167-4fb6-a1dd-b1c102d01e77	g.chrX:76939387delT	ENST00000373344.5	-	9	1575	c.1361delA	c.(1360-1362)aagfs	p.K455fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K417fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	455					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)	AATATCCTTCTTTTCCAAAGC	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939387	T	-	76939387	7	5	605	1	0	1	0	1	0	0	0	0	1213	1609	56	0	6225	0	ATRX	23	76939387	Frame_Shift_Del	DEL	T	TCGA-HT-A618-01A-11D-A29Q-08		76939387	78331173	36	50437											
ST3GAL3	6487	broad.mit.edu	37	chr1	44363948	44363948	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagtcaccaaagagtacCgcctgacccctgccttggac	9	8	9	15	1	2	2	2	1	0	1	2	3	2	3	6	1	2	1	6	1	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:44363948C>T	ENST00000262915.3	+	8	823	c.646C>T	c.(646-648)Cgc>Tgc	p.R216C	ST3GAL3_ENST00000461375.1_3'UTR|ST3GAL3_ENST00000372362.2_Intron|ST3GAL3_ENST00000361400.4_Missense_Mutation_p.R131C|ST3GAL3_ENST00000531451.1_Intron|ST3GAL3_ENST00000351035.3_Missense_Mutation_p.R185C|ST3GAL3_ENST00000330208.2_Intron|ST3GAL3_ENST00000372368.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000545417.1_Intron|ST3GAL3_ENST00000372369.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000332628.6_Missense_Mutation_p.R116C|ST3GAL3_ENST00000372374.2_Missense_Mutation_p.R116C|ST3GAL3_ENST00000533933.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531816.1_Intron|ST3GAL3_ENST00000361392.4_Missense_Mutation_p.R147C|ST3GAL3_ENST00000361812.4_Intron|ST3GAL3_ENST00000372377.4_Intron|ST3GAL3_ENST00000361746.4_Missense_Mutation_p.R216C|ST3GAL3_ENST00000528371.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000335430.6_Missense_Mutation_p.R131C|ST3GAL3_ENST00000372365.1_Missense_Mutation_p.R147C|ST3GAL3_ENST00000531993.1_Missense_Mutation_p.R131C|ST3GAL3_ENST00000347631.2_Missense_Mutation_p.R162C|ST3GAL3_ENST00000372372.2_Missense_Mutation_p.R185C|ST3GAL3_ENST00000372366.1_Missense_Mutation_p.R146C|ST3GAL3_ENST00000372375.2_Missense_Mutation_p.R201C|ST3GAL3_ENST00000353126.3_Missense_Mutation_p.R147C|ST3GAL3_ENST00000372367.1_Missense_Mutation_p.R146C	NM_174963.3	NP_777623.2	Q11203	SIAT6_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 3	147					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	N-acetyllactosaminide alpha-2,3-sialyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(3)|skin(1)	19	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0518)				CAAAGAGTACCGCCTGACCCC	0.537													T	44363948	C	T	44363948	3	4	606	1	0	0	0	0	1	0	0	0	15312	652	23	1	672	1	ST3GAL3	1	44363948	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		44363948	204886673	1	50438											
CFHR3	10878	broad.mit.edu	37	chr1	196748322	196748322	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttccagacattaaacAtggaggtctatttcatgaga	13	14	8	6	0	2	3	1	2	1	2	3	5	3	4	1	2	1	0	1	2	3	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr1:196748322A>C	ENST00000471440.2	+	2	163	c.89A>C	c.(88-90)cAt>cCt	p.H30P	CFHR3_ENST00000367425.4_Missense_Mutation_p.H30P|CFHR3_ENST00000391985.3_Missense_Mutation_p.H30P					complement factor H-related 3											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|lung(6)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	18						GACATTAAACATGGAGGTCTA	0.289													C	196748322	A	C	196748322	3	2	606	1	0	0	0	0	1	0	0	0	3316	217	8	5	95	5	CFHR3	1	196748322	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	152384374	196748322	52502299	2	50439											
SLC4A1AP	22950	broad.mit.edu	37	chr2	27898498	27898498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcctgattgagaagaagcGtctgaacagaatgaagaagg	15	7	14	5	1	1	7	0	4	1	4	1	8	1	7	1	2	2	0	1	2	6	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:27898498G>A	ENST00000326019.6	+	6	1727	c.1445G>A	c.(1444-1446)cGt>cAt	p.R482H		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	482						cytoplasm|nucleus	double-stranded RNA binding|protein binding			breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					GAGAAGAAGCGTCTGAACAGA	0.398													A	27898498	G	A	27898498	3	1	606	1	0	0	0	0	1	0	0	0	14747	1145	40	1	1467	1	SLC4A1AP	2	27898498	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		27898498	215300875	3	50440											
HEATR5B	54497	broad.mit.edu	37	chr2	37268400	37268400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaccaagagccaatgaatgaCcagtcctagatacaacatct	17	7	6	11	0	1	4	0	2	1	2	2	4	2	4	4	0	4	0	4	0	7	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:37268400C>T	ENST00000233099.5	-	19	2827	c.2732G>A	c.(2731-2733)gGt>gAt	p.G911D	HEATR5B_ENST00000354531.2_Missense_Mutation_p.G911D	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	911							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CAATGAATGACCAGTCCTAGA	0.388													T	37268400	C	T	37268400	3	4	606	1	0	0	0	0	1	0	0	0	7087	507	18	2	3555	2	HEATR5B	2	37268400	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	9369902	37268400	205930973	4	50441											
REG1B	5968	broad.mit.edu	37	chr2	79312681	79312681	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggggatccagtgtcccAggacttgtaggagaccaggg	8	7	16	10	1	0	1	0	0	0	1	3	4	2	3	3	5	0	2	3	5	1	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:79312681A>G	ENST00000305089.3	-	5	450	c.370T>C	c.(370-372)Tgg>Cgg	p.W124R		NM_006507.3	NP_006498.1	P48304	REG1B_HUMAN	regenerating islet-derived 1 beta	124	C-type lectin.				cell proliferation	extracellular region	sugar binding			central_nervous_system(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(40)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	51						CCAGTGTCCCAGGACTTGTAG	0.542													G	79312681	A	G	79312681	3	3	606	1	0	0	0	0	1	0	0	0	13299	188	7	3	138	3	REG1B	2	79312681	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42044281	79312681	163886692	5	50442											
CNNM4	26504	broad.mit.edu	37	chr2	97427110	97427110	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagctggtcaacgtgagccGcgggaacacgtccggcgtgc	7	5	16	13	6	1	1	1	1	0	0	2	2	2	2	2	3	5	2	2	3	2	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:97427110G>A	ENST00000377075.2	+	1	472	c.374G>A	c.(373-375)cGc>cAc	p.R125H		NM_020184.3	NP_064569.3	Q6P4Q7	CNNM4_HUMAN	cyclin M4	125					biomineral tissue development|ion transport|response to stimulus|visual perception	integral to membrane|plasma membrane				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	20						AACGTGAGCCGCGGGAACACG	0.652													A	97427110	G	A	97427110	3	1	606	1	0	0	0	0	1	0	0	0	3646	1087	38	1	376	1	CNNM4	2	97427110	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	18114429	97427110	145772263	6	50443											
RGPD4	285190	broad.mit.edu	37	chr2	108487540	108487540	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctttgagaaagatgatgatgCctataagactgaggacagcg	14	9	12	6	1	0	6	0	4	0	3	0	8	0	7	1	1	2	0	1	1	3	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:108487540C>G	ENST00000408999.3	+	20	3157	c.3080C>G	c.(3079-3081)gCc>gGc	p.A1027G	RGPD4_ENST00000354986.4_Missense_Mutation_p.A1027G	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1027					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GATGATGATGCCTATAAGACT	0.388													G	108487540	C	G	108487540	3	3	606	1	0	0	0	0	1	0	0	0	13376	739	26	4	3158	4	RGPD4	2	108487540	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	11060430	108487540	134711833	7	50444											
LRP2	4036	broad.mit.edu	37	chr2	170101367	170101367	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccatccacacagtcgttgCgtttgtcacagcgccagtgt	7	11	10	13	3	1	0	1	0	0	0	3	0	2	0	3	0	3	2	3	0	0	2	rs143115109		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:170101367C>T	ENST00000263816.3	-	22	3551	c.3266G>A	c.(3265-3267)cGc>cAc	p.R1089H	LRP2_ENST00000443831.1_Missense_Mutation_p.R952H	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1089	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ACAGTCGTTGCGTTTGTCACA	0.517													T	170101367	C	T	170101367	3	4	606	1	0	0	0	0	1	0	0	0	9026	768	27	1	10933	1	LRP2	2	170101367	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	61613827	170101367	73098006	8	50445											
TTN	7273	broad.mit.edu	37	chr2	179456396	179456396	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccacaatgttttcagctttTacacggaatctataggtctt	10	15	6	10	1	3	0	1	0	2	0	3	1	3	1	1	2	2	2	1	2	5	7			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:179456396T>C	ENST00000589042.1	-	303	60374	c.60150A>G	c.(60148-60150)gtA>gtG	p.V20050V	TTN_ENST00000342992.6_Silent_p.V17482V|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.V18409V|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.V11177V|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Silent_p.V11110V|TTN_ENST00000460472.2_Silent_p.V10985V|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18409	Fibronectin type-III 45.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTCAGCTTTTACACGGAATC	0.393													C	179456396	T	C	179456396	2	2	606	1	0	0	0	0	0	0	0	1	16837	1741	61	3		3	TTN	2	179456396	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	9355029	179456396	63742977	9	50446											
NCKAP1	10787	broad.mit.edu	37	chr2	183843586	183843586	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttacacttagggaagtcaTagtgttaacaaaagaggaca	16	11	9	5	0	1	1	1	0	0	1	1	3	1	3	0	2	2	1	0	2	7	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:183843586T>C	ENST00000361354.4	-	14	1771	c.1399A>G	c.(1399-1401)Atg>Gtg	p.M467V	NCKAP1_ENST00000360982.2_Missense_Mutation_p.M473V	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			AGGGAAGTCATAGTGTTAACA	0.279													C	183843586	T	C	183843586	3	2	606	1	0	0	0	0	1	0	0	0	10297	1406	49	3	2059	3	NCKAP1	2	183843586	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	4387190	183843586	59355787	10	50447											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	606	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	25269526	209113112	34086261	11	50448											
NCL	4691	broad.mit.edu	37	chr2	232320164	232320164	+	Frame_Shift_Del	DEL	A	A	-																															cctcctcggcctcctctaccAccacctcgtcctccaaagcc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr2:232320164delA	ENST00000322723.4	-	13	2244	c.2004delT	c.(2002-2004)ggtfs	p.G669fs		NM_005381.2	NP_005372.2	P19338	NUCL_HUMAN	nucleolin	669	Arg/Gly/Phe-rich.				angiogenesis	cell cortex|nucleolus|ribonucleoprotein complex	nucleotide binding|protein C-terminus binding|RNA binding|telomeric DNA binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(3)	35		Ovarian(221;1.34e-05)|Renal(207;0.0112)|Lung NSC(271;0.0339)|all_lung(227;0.0616)|all_hematologic(139;0.0748)|Hepatocellular(293;0.137)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.65e-111)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.014)|COAD - Colon adenocarcinoma(134;0.141)|STAD - Stomach adenocarcinoma(1183;0.18)		CTCCTCTACCACCACCTCGTC	0.567													-	232320164	A	-	232320164	7	5	606	1	0	1	0	1	0	0	0	0	10302	146	6	0	136	0	NCL	2	232320164	Frame_Shift_Del	DEL	A	TCGA-HT-A619-01A-11D-A29Q-08	23207052	232320164	10879209	12	50449											
EPHA3	2042	broad.mit.edu	37	chr3	89259601	89259601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtactgcagtacagaaggcGaatggcttgtacccattggc	10	10	12	9	1	0	1	0	0	0	1	0	2	0	1	1	3	4	5	1	3	5	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:89259601G>A	ENST00000336596.2	+	3	970	c.745G>A	c.(745-747)Gaa>Aaa	p.E249K	EPHA3_ENST00000452448.2_Missense_Mutation_p.E249K|EPHA3_ENST00000494014.1_Missense_Mutation_p.E249K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	249	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding	p.E249K(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TACAGAAGGCGAATGGCTTGT	0.473										TSP Lung(6;0.00050)			A	89259601	G	A	89259601	3	1	606	1	0	0	0	0	1	0	0	0	5209	1059	37	1	755	1	EPHA3	3	89259601	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		89259601	108762829	13	50450											
PVRL3	25945	broad.mit.edu	37	chr3	110831116	110831116	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttaatgatgcaacaattActctgcataacataggattc	15	12	5	9	0	1	1	0	1	1	0	2	2	1	2	0	1	5	2	0	1	6	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:110831116A>G	ENST00000485303.1	+	2	675	c.400A>G	c.(400-402)Act>Gct	p.T134A	PVRL3_ENST00000488016.1_3'UTR|PVRL3_ENST00000493615.1_Missense_Mutation_p.T111A|PVRL3_ENST00000319792.3_Missense_Mutation_p.T134A	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	134	Ig-like V-type.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						TGCAACAATTACTCTGCATAA	0.393													G	110831116	A	G	110831116	3	3	606	1	0	0	0	0	1	0	0	0	12929	391	14	3	406	3	PVRL3	3	110831116	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	21571515	110831116	87191314	14	50451											
PHLDB2	90102	broad.mit.edu	37	chr3	111685531	111685531	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggctcatgcagaaaagaCgcggctgctcgaatccaggg	11	5	14	11	3	1	2	1	0	0	2	3	3	2	2	1	3	2	5	1	3	3	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:111685531C>T	ENST00000431670.2	+	14	3560	c.3149C>T	c.(3148-3150)aCg>aTg	p.T1050M	PHLDB2_ENST00000393923.3_Missense_Mutation_p.T1034M|PHLDB2_ENST00000495180.1_Missense_Mutation_p.T541M|PHLDB2_ENST00000481953.1_Missense_Mutation_p.T1007M|PHLDB2_ENST00000470699.2_3'UTR|PHLDB2_ENST00000393925.3_Missense_Mutation_p.T1050M|PHLDB2_ENST00000412622.1_Missense_Mutation_p.T1007M	NM_001134438.1	NP_001127910.1	Q86SQ0	PHLB2_HUMAN	pleckstrin homology-like domain, family B, member 2	1050						cytoplasm|intermediate filament cytoskeleton|plasma membrane				breast(2)|central_nervous_system(1)|endometrium(7)|large_intestine(8)|lung(23)|ovary(6)|skin(7)|stomach(1)	55						GCAGAAAAGACGCGGCTGCTC	0.478													T	111685531	C	T	111685531	3	4	606	1	0	0	0	0	1	0	0	0	11929	536	19	1	3284	1	PHLDB2	3	111685531	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	854415	111685531	86336899	15	50452											
ZNF148	7707	broad.mit.edu	37	chr3	124953096	124953096	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtaaggtttttctccactatGagttctcttatgcctttcca	7	18	6	10	0	2	1	0	1	2	0	5	1	3	1	3	1	1	3	3	1	3	7			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr3:124953096G>C	ENST00000360647.4	-	8	1230	c.745C>G	c.(745-747)Cat>Gat	p.H249D	ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000485866.1_Missense_Mutation_p.H249D|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.H249D|ZNF148_ENST00000492394.1_Missense_Mutation_p.H249D|ZNF148_ENST00000497929.1_5'UTR	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	249					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						TCTCCACTATGAGTTCTCTTA	0.303													C	124953096	G	C	124953096	3	2	606	1	0	0	0	0	1	0	0	0	17835	1290	45	4	1647	4	ZNF148	3	124953096	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	13267565	124953096	73069334	16	50453											
CCDC109B	55013	broad.mit.edu	37	chr4	110581405	110581405	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtaacacttaccttgccatCtagaaaagaacgttgtcaat	14	11	7	9	1	2	2	1	0	1	2	2	2	2	2	2	1	4	2	2	1	7	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110581405C>G	ENST00000394650.4	+	3	363	c.230C>G	c.(229-231)tCt>tGt	p.S77C	CCDC109B_ENST00000515114.1_3'UTR	NM_017918.4	NP_060388.2	Q9NWR8	C109B_HUMAN	coiled-coil domain containing 109B	77						integral to membrane				breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(1)	9				OV - Ovarian serous cystadenocarcinoma(123;6.65e-06)		ACCTTGCCATCTAGAAAAGAA	0.328													G	110581405	C	G	110581405	3	3	606	1	0	0	0	0	1	0	0	0	2771	913	32	4	240	4	CCDC109B	4	110581405	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		110581405	80572871	17	50454											
EGF	1950	broad.mit.edu	37	chr4	110884445	110884445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactggatgaaaaaagctgtGcagcttcaggttagtgctgt	12	11	12	6	0	1	1	1	1	0	0	1	2	1	2	0	2	5	5	0	2	5	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:110884445G>A	ENST00000265171.5	+	9	1874	c.1429G>A	c.(1429-1431)Gca>Aca	p.A477T	EGF_ENST00000503392.1_Missense_Mutation_p.A477T|EGF_ENST00000509793.1_Missense_Mutation_p.A435T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	477	EGF-like 4.				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAAAAGCTGTGCAGCTTCAGG	0.423													A	110884445	G	A	110884445	3	1	606	1	0	0	0	0	1	0	0	0	5001	1319	46	2	1463	2	EGF	4	110884445	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	303040	110884445	80269831	18	50455											
DCHS2	54798	broad.mit.edu	37	chr4	155287390	155287390	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaatggtaaaaagggaCgacacgtttcctggaataag	15	8	12	6	2	1	0	1	0	0	0	2	4	2	2	1	3	0	2	1	3	6	3	rs78251264	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr4:155287390C>T	ENST00000357232.4	-	5	665	c.666G>A	c.(664-666)tcG>tcA	p.S222S	DCHS2_ENST00000339452.1_Silent_p.S816S	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TAAAAAGGGACGACACGTTTC	0.448													T	155287390	C	T	155287390	2	4	606	1	0	0	0	0	0	0	0	1	4322	523	19	1		1	DCHS2	4	155287390	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	44402945	155287390	35866886	19	50456											
CEP72	55722	broad.mit.edu	37	chr5	620335	620335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggttgagcctgactaccGcctttttgttgtgcacctgc	6	13	11	11	1	0	2	0	2	0	0	0	3	0	2	4	1	4	3	4	1	2	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:620335G>A	ENST00000264935.5	+	3	452	c.362G>A	c.(361-363)cGc>cAc	p.R121H	CEP72_ENST00000444221.1_Missense_Mutation_p.R121H	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	121	LRRCT.				G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			CCTGACTACCGCCTTTTTGTT	0.602													A	620335	G	A	620335	3	1	606	1	0	0	0	0	1	0	0	0	3290	1087	38	1	372	1	CEP72	5	620335	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		620335	180294925	20	50457											
SLC6A19	340024	broad.mit.edu	37	chr5	1219196	1219196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacctcagagtcatcccccCgaagtggcccaaggaggtgc	9	5	13	14	1	2	1	2	0	0	1	3	4	3	3	5	4	1	0	5	4	2	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:1219196C>T	ENST00000304460.10	+	9	1408	c.1352C>T	c.(1351-1353)cCg>cTg	p.P451L		NM_001003841.2	NP_001003841.1	Q695T7	S6A19_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 19	451					cellular nitrogen compound metabolic process	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(25)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	44	all_cancers(3;3.55e-15)|Lung NSC(6;2.89e-14)|all_lung(6;2.2e-13)|all_epithelial(6;3.75e-10)		Epithelial(17;0.000356)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			GTCATCCCCCCGAAGTGGCCC	0.607													T	1219196	C	T	1219196	3	4	606	1	0	0	0	0	1	0	0	0	14776	652	23	1	1386	1	SLC6A19	5	1219196	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	598861	1219196	179696064	21	50458											
MYO10	4651	broad.mit.edu	37	chr5	16689996	16689996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggccataatgatgtcgatcCcattctccttggtggtgtta	7	14	10	10	2	1	1	0	1	1	0	4	2	2	1	3	3	0	1	3	3	2	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:16689996C>T	ENST00000513610.1	-	28	4287	c.3833G>A	c.(3832-3834)gGg>gAg	p.G1278E	MYO10_ENST00000515803.1_Missense_Mutation_p.G617E|MYO10_ENST00000505695.1_Missense_Mutation_p.G617E|MYO10_ENST00000274203.9_Missense_Mutation_p.G635E|MYO10_ENST00000427430.2_Missense_Mutation_p.G635E	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1278	PH 1.				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						GATGTCGATCCCATTCTCCTT	0.463													T	16689996	C	T	16689996	3	4	606	1	0	0	0	0	1	0	0	0	10138	623	22	2	2399	2	MYO10	5	16689996	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15470800	16689996	164225264	22	50459											
NIPBL	25836	broad.mit.edu	37	chr5	36985704	36985704	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagcagagacctgatgggCgatctgtttctgagtcacta	11	11	11	8	1	3	3	1	2	2	1	3	5	3	3	1	1	1	2	1	1	3	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:36985704C>T	ENST00000282516.8	+	10	2921	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.R808*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	808					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			ACCTGATGGGCGATCTGTTTC	0.428													T	36985704	C	T	36985704	4	4	606	1	0	0	0	0	0	1	0	0	10504	760	27	1	2456	1	NIPBL	5	36985704	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	20295708	36985704	143929556	23	50460											
MAP1B	4131	broad.mit.edu	37	chr5	71495073	71495073	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgacataagtgaaaagaccaCcagcccccccgaagtgagtg	14	5	10	12	1	0	4	0	3	0	1	0	5	0	4	5	0	1	0	5	0	4	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:71495073C>G	ENST00000296755.7	+	5	6189	c.5891C>G	c.(5890-5892)aCc>aGc	p.T1964S		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1964						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		GAAAAGACCACCAGCCCCCCC	0.473													G	71495073	C	G	71495073	3	3	606	1	0	0	0	0	1	0	0	0	9303	507	18	4	5909	4	MAP1B	5	71495073	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	34509369	71495073	109420187	24	50461											
PCDHA2	56146	broad.mit.edu	37	chr5	140176038	140176038	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtcctactcgctggtggagCggcgggtgggcgagcgcgcg	3	7	20	11	7	0	0	0	0	0	0	2	2	1	1	1	5	3	1	1	5	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140176038C>T	ENST00000526136.1	+	1	1489	c.1489C>T	c.(1489-1491)Cgg>Tgg	p.R497W	PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.R497W|PCDHA2_ENST00000520672.2_Missense_Mutation_p.R497W	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTGGTGGAGCGGCGGGTGGG	0.672													T	140176038	C	T	140176038	3	4	606	1	0	0	0	0	1	0	0	0	11600	759	27	1	1491	1	PCDHA2	5	140176038	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	68680965	140176038	40739222	25	50462											
PCDHA3	56145	broad.mit.edu	37	chr5	140182696	140182696	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcacgacccgtgccctggaCgaggtggacgccccgcgcca	7	3	14	17	6	0	0	0	0	0	0	0	4	0	2	5	3	2	1	5	3	0	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:140182696C>T	ENST00000522353.2	+	1	1914	c.1914C>T	c.(1912-1914)gaC>gaT	p.D638D	PCDHA3_ENST00000532566.2_Silent_p.D638D|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GTGCCCTGGACGAGGTGGACG	0.667													T	140182696	C	T	140182696	2	4	606	1	0	0	0	0	0	0	0	1	11601	535	19	1		1	PCDHA3	5	140182696	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	6658	140182696	40732564	26	50463											
SPRY4	81848	broad.mit.edu	37	chr5	141693969	141693969	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagagagcacccatgaaggaCcagcgggcgcagcagttgga	12	3	16	10	2	0	2	0	1	0	1	0	6	0	4	2	3	3	4	2	3	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr5:141693969C>T	ENST00000344120.4	-	3	960	c.774G>A	c.(772-774)tgG>tgA	p.W258*	SPRY4_ENST00000434127.2_Nonsense_Mutation_p.W235*	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	235	Cys-rich.|SPR.				multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCATGAAGGACCAGCGGGCGC	0.662									Testicular Cancer, Familial Clustering of				T	141693969	C	T	141693969	4	4	606	1	0	0	0	0	0	1	0	0	15204	508	18	2	198	2	SPRY4	5	141693969	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	1511273	141693969	39221291	27	50464											
ABCB5	340273	broad.mit.edu	37	chr7	20767947	20767947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtacattccagaaatacctcGaagaaagcacagattattgg	16	9	8	8	1	0	3	0	0	0	3	2	4	1	3	2	1	3	2	2	1	6	5			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:20767947G>A	ENST00000404938.2	+	23	3388	c.2736G>A	c.(2734-2736)tcG>tcA	p.S912S	ABCB5_ENST00000258738.6_Silent_p.S467S	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	467					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GAAATACCTCGAAGAAAGCAC	0.353													A	20767947	G	A	20767947	2	1	606	1	0	0	0	0	0	0	0	1	44	1045	37	1		1	ABCB5	7	20767947	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		20767947	138370716	28	50465											
DNAH11	8701	broad.mit.edu	37	chr7	21721268	21721268	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagatgtccatgccagagaCgtggtggcaaaacttatttc	12	11	10	8	1	0	2	0	0	0	2	2	3	1	2	2	2	2	1	2	2	4	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:21721268C>T	ENST00000328843.6	+	31	5479	c.5448C>T	c.(5446-5448)gaC>gaT	p.D1816D	DNAH11_ENST00000409508.3_Silent_p.D1811D			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1816	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						ATGCCAGAGACGTGGTGGCAA	0.398									Kartagener syndrome				T	21721268	C	T	21721268	2	4	606	1	0	0	0	0	0	0	0	1	4638	535	19	1		1	DNAH11	7	21721268	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	953321	21721268	137417395	29	50466											
FBXL13	222235	broad.mit.edu	37	chr7	102453840	102453840	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gactttttcactgttaattcTaaggctcctttagatgatgt	9	18	7	7	0	2	2	1	1	1	1	3	3	3	2	1	1	0	2	1	1	3	7	rs141623741		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:102453840T>G	ENST00000393772.2	-	19	2499	c.2073A>C	c.(2071-2073)ttA>ttC	p.L691F	FBXL13_ENST00000313221.4_Missense_Mutation_p.L719F|FBXL13_ENST00000456695.1_Missense_Mutation_p.L437F|FBXL13_ENST00000455112.2_Missense_Mutation_p.L674F|FBXL13_ENST00000379308.3_Missense_Mutation_p.L674F|FBXL13_ENST00000379305.3_Missense_Mutation_p.L691F|FBXL13_ENST00000379306.3_Missense_Mutation_p.L437F|FBXL13_ENST00000436908.1_Missense_Mutation_p.L719F			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	719										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						CTGTTAATTCTAAGGCTCCTT	0.418													G	102453840	T	G	102453840	3	3	606	1	0	0	0	0	1	0	0	0	5758	1519	53	5	54	5	FBXL13	7	102453840	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	80732572	102453840	56684823	30	50467											
WNT16	51384	broad.mit.edu	37	chr7	120969426	120969426	+	Frame_Shift_Del	DEL	C	C	-																															cgtgctgttcccctacggagCccaaggaaactggatgtgag																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:120969426delC	ENST00000222462.2	+	1	370	c.80delC	c.(79-81)gccfs	p.A27fs	WNT16_ENST00000361301.2_Intron	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	27					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					CCCTACGGAGCCCAAGGAAAC	0.647													-	120969426	C	-	120969426	7	5	606	1	0	1	0	1	0	0	0	0	17487	739	26	0	151	0	WNT16	7	120969426	Frame_Shift_Del	DEL	C	TCGA-HT-A619-01A-11D-A29Q-08	18515586	120969426	38169237	31	50468											
ASB15	142685	broad.mit.edu	37	chr7	123269087	123269088	+	Frame_Shift_Del	DEL	GA	GA	-																															accacatttcccagagctatGacgatgagaggaagactgcg																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:123269087_123269088delGA	ENST00000451558.1	+	12	1560_1561	c.1039_1040delGA	c.(1039-1041)gacfs	p.D348fs	ASB15_ENST00000275699.3_Frame_Shift_Del_p.D348fs|ASB15_ENST00000434204.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000540573.1_Frame_Shift_Del_p.D348fs|ASB15_ENST00000451215.1_Frame_Shift_Del_p.D348fs			Q8WXK1	ASB15_HUMAN	ankyrin repeat and SOCS box containing 15	348					intracellular signal transduction					breast(1)|kidney(1)|large_intestine(1)|lung(6)|skin(3)	12						CCAGAGCTATGACGATGAGAGG	0.455													-	123269088	GA	-	123269087	7	5	606	1	0	1	0	1	0	0	0	0	1024	1290	45	0	1065	0	ASB15	7	123269087	Frame_Shift_Del	DEL	GA	TCGA-HT-A619-01A-11D-A29Q-08	2299661	123269087	35869576	32	50469											
EPHB6	2051	broad.mit.edu	37	chr7	142561054	142561054	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtgtagcctatgggtgctGctcctggtgtcttcagttct	3	16	13	9	0	3	0	1	0	2	0	4	0	4	0	2	2	3	4	2	2	2	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:142561054G>T	ENST00000392957.2	+	5	856	c.69G>T	c.(67-69)ctG>ctT	p.L23L	EPHB6_ENST00000411471.2_Intron|EPHB6_ENST00000442129.1_Silent_p.L23L	NM_004445.3	NP_004436.3	O15197	EPHB6_HUMAN	EPH receptor B6	23						extracellular region|integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(46)|ovary(2)|pancreas(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	87	Melanoma(164;0.059)					TATGGGTGCTGCTCCTGGTGT	0.587													T	142561054	G	T	142561054	2	4	606	1	0	0	0	0	0	0	0	1	5219	1306	46	4		4	EPHB6	7	142561054	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	19291967	142561054	16577609	33	50470											
SSPO	23145	broad.mit.edu	37	chr7	149516518	149516518	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccgcctgcgggcataccGtccccctgggcccggcgggc	2	4	16	19	6	0	0	0	0	0	0	1	0	1	0	6	4	2	1	6	4	1	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr7:149516518G>A	ENST00000378016.2	+	0	11921							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CGGGCATACCGTCCCCCTGGG	0.711													A	149516518	G	A	149516518	1	1	606	0	1	0	0	0	0	0	0	0	15285	1145	40	1		1	SSPO	7	149516518	RNA	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	6955464	149516518	9622145	34	50471											
ADAM28	10863	broad.mit.edu	37	chr8	24187513	24187513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaggaccacagcgataatCttcttagagttgcagggaca	12	11	10	8	1	2	1	0	0	2	1	2	4	2	3	1	2	2	2	1	2	3	6			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:24187513C>T	ENST00000265769.4	+	11	1098	c.988C>T	c.(988-990)Ctt>Ttt	p.L330F	ADAM28_ENST00000540823.1_Missense_Mutation_p.L97F|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.L77F|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.L330F|ADAM28_ENST00000518516.1_3'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	330	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CAGCGATAATCTTCTTAGAGT	0.388													T	24187513	C	T	24187513	3	4	606	1	0	0	0	0	1	0	0	0	246	913	32	2	1030	2	ADAM28	8	24187513	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		24187513	122176509	35	50472											
PPP2R2A	5520	broad.mit.edu	37	chr8	26227744	26227761	+	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	AAGCCTCGCACAGTTCTG	-																															aagcatcgcgggaaaacaatAagcctcgcacagttctgaag																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:26227744_26227761delAAGCCTCGCACAGTTCTG	ENST00000380737.3	+	10	1488_1505	c.1159_1176delAAGCCTCGCACAGTTCTG	c.(1159-1176)aagcctcgcacagttctgdel	p.KPRTVL387del	PPP2R2A_ENST00000315985.7_In_Frame_Del_p.KPRTVL397del	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha									p.R389H(1)|p.R389R(1)		kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		GGAAAACAATAAGCCTCGCACAGTTCTGAAGCCTCGCA	0.431													-	26227761	AAGCCTCGCACAGTTCTG	-	26227744	7	5	606	1	0	1	0	1	0	0	0	0	12466	363	13	0	1238	0	PPP2R2A	8	26227744	In_Frame_Del	DEL	AAGCCTCGCACAGTTCTG	TCGA-HT-A619-01A-11D-A29Q-08	2040231	26227744	120136278	36	50473											
PXDNL	137902	broad.mit.edu	37	chr8	52233389	52233389	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctttcatccagcgctcctcGgccttccttggaacccctct	4	13	6	18	2	3	0	1	0	2	0	7	1	6	1	6	2	2	1	6	2	1	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:52233389G>A	ENST00000356297.4	-	22	4315	c.4215C>T	c.(4213-4215)gcC>gcT	p.A1405A	PXDNL_ENST00000543296.1_3'UTR|RP11-401H2.1_ENST00000521294.1_RNA	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	1405	VWFC.				hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				AGCGCTCCTCGGCCTTCCTTG	0.527													A	52233389	G	A	52233389	2	1	606	1	0	0	0	0	0	0	0	1	12936	1103	39	1		1	PXDNL	8	52233389	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26005645	52233389	94130633	37	50474											
ARHGAP39	80728	broad.mit.edu	37	chr8	145773361	145773361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcttggtgagcaccagcTgctggcagggcgaggggggg	5	7	20	9	1	1	1	0	1	1	0	1	2	1	1	1	6	4	5	1	6	0	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr8:145773361T>C	ENST00000276826.5	-	4	1310	c.1109A>G	c.(1108-1110)cAg>cGg	p.Q370R	ARHGAP39_ENST00000540274.1_Missense_Mutation_p.Q370R|ARHGAP39_ENST00000377307.2_Missense_Mutation_p.Q370R			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	370					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						GAGCACCAGCTGCTGGCAGGG	0.706													C	145773361	T	C	145773361	3	2	606	1	0	0	0	0	1	0	0	0	887	1580	55	3	2267	3	ARHGAP39	8	145773361	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	93539972	145773361	590661	38	50475											
RGS3	5998	broad.mit.edu	37	chr9	116356592	116356592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tacctcactcgcaacgggaaCctgcagaggcgacacacgat	12	5	10	14	4	1	1	1	0	0	1	2	4	1	2	2	2	4	2	2	2	3	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:116356592C>T	ENST00000462403.1	+	1	827	c.393C>T	c.(391-393)aaC>aaT	p.N131N	RGS3_ENST00000342620.5_Intron|RGS3_ENST00000394646.3_Intron|RGS3_ENST00000343817.5_Intron|RGS3_ENST00000374140.2_Intron|RGS3_ENST00000350696.5_Intron|RGS3_ENST00000462143.1_Intron|RGS3_ENST00000374134.3_Intron	NM_144489.2	NP_652760.2	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	0					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GCAACGGGAACCTGCAGAGGC	0.622													T	116356592	C	T	116356592	2	4	606	1	0	0	0	0	0	0	0	1	13395	506	18	2		2	RGS3	9	116356592	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		116356592	24856839	39	50476											
OLFML2A	169611	broad.mit.edu	37	chr9	127572206	127572206	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatcatcaagtacgacctaCggcagcgcttcgtggcctcc	9	8	9	15	4	2	0	2	0	0	0	4	1	3	0	3	2	3	3	3	2	3	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:127572206C>T	ENST00000373580.3	+	8	1474	c.1474C>T	c.(1474-1476)Cgg>Tgg	p.R492W	OLFML2A_ENST00000288815.5_Missense_Mutation_p.R278W	NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	492	Olfactomedin-like.									endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						GTACGACCTACGGCAGCGCTT	0.592													T	127572206	C	T	127572206	3	4	606	1	0	0	0	0	1	0	0	0	10933	527	19	1	1504	1	OLFML2A	9	127572206	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	11215614	127572206	13641225	40	50477											
GTF3C4	9329	broad.mit.edu	37	chr9	135546108	135546108	+	Silent	SNP	G	G	T																															ccagcagcggacgcggccccGgggcccagcgctgcattccg																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546108G>T	ENST00000372146.4	+	1	687	c.123G>T	c.(121-123)ccG>ccT	p.P41P	GTF3C4_ENST00000483873.2_Silent_p.P41P	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	41					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		ACGCGGCCCCGGGGCCCAGCG	0.761													T	135546108	G	T	135546108	2	4	606	1	0	0	0	0	0	0	0	1	6930	1103	39	4		4	GTF3C4	9	135546108	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	7973902	135546108	5667323	41	50478	162	2									
GTF3C4	9329	broad.mit.edu	37	chr9	135546109	135546109	+	Missense_Mutation	SNP	G	G	A																															cagcagcggacgcggccccgGggcccagcgctgcattccgc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:135546109G>A	ENST00000372146.4	+	1	688	c.124G>A	c.(124-126)Ggg>Agg	p.G42R	GTF3C4_ENST00000483873.2_Missense_Mutation_p.G42R	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	42					transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CGCGGCCCCGGGGCCCAGCGC	0.756													A	135546109	G	A	135546109	3	1	606	1	0	0	0	0	1	0	0	0	6930	1232	43	2	126	2	GTF3C4	9	135546109	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	1	135546109	5667322	42	50479	162	2									
DBH	1621	broad.mit.edu	37	chr9	136507441	136507441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagggtgcagctcctgaagcCcaatatccccgaaccggagt	10	6	12	13	2	0	1	0	1	0	0	2	4	2	2	5	2	4	2	5	2	4	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr9:136507441C>G	ENST00000393056.2	+	3	611	c.599C>G	c.(598-600)cCc>cGc	p.P200R		NM_000787.3	NP_000778.3	P09172	DOPO_HUMAN	dopamine beta-hydroxylase (dopamine beta-monooxygenase)	200					hormone biosynthetic process	chromaffin granule lumen|chromaffin granule membrane|extracellular region|integral to membrane|membrane fraction|soluble fraction|transport vesicle membrane	dopamine beta-monooxygenase activity|L-ascorbic acid binding			central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(9)|liver(1)|lung(6)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	36				OV - Ovarian serous cystadenocarcinoma(145;2.33e-07)|Epithelial(140;1.5e-06)|all cancers(34;1.66e-05)	Dopamine(DB00988)|Vitamin C(DB00126)	CTCCTGAAGCCCAATATCCCC	0.622													G	136507441	C	G	136507441	3	3	606	1	0	0	0	0	1	0	0	0	4284	623	22	4	609	4	DBH	9	136507441	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	961332	136507441	4705990	43	50480											
CELF2	10659	broad.mit.edu	37	chr10	11363187	11363187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtatggcggctctgaatGgaggacttggcgccacaggc	8	7	16	10	2	1	1	0	1	1	0	1	3	1	3	1	7	0	2	1	7	2	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr10:11363187G>C	ENST00000379261.4	+	11	1185	c.1093G>C	c.(1093-1095)Gga>Cga	p.G365R	CELF2_ENST00000354440.2_Missense_Mutation_p.G347R|CELF2_ENST00000417956.2_Missense_Mutation_p.G345R|CELF2_ENST00000537122.1_Missense_Mutation_p.G260R|CELF2_ENST00000608830.1_Missense_Mutation_p.G345R|CELF2_ENST00000609692.1_Missense_Mutation_p.G345R|CELF2_ENST00000399850.3_Missense_Mutation_p.G347R|CELF2_ENST00000416382.2_Missense_Mutation_p.G365R|CELF2_ENST00000354897.3_Missense_Mutation_p.G359R|CELF2_ENST00000427450.1_Missense_Mutation_p.G347R|CELF2_ENST00000450189.1_Missense_Mutation_p.G378R|CELF2_ENST00000542579.1_Missense_Mutation_p.G378R|CELF2_ENST00000315874.4_Missense_Mutation_p.G347R	NM_001025077.2	NP_001020248.1	O95319	CELF2_HUMAN	CUGBP, Elav-like family member 2	365	Ala-rich.|Necessary for RNA-binding, TNNT2 exon 5 and NMDA R1 exon 21 inclusion.				mRNA processing|regulation of heart contraction	cytoplasm|nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	16						GGCTCTGAATGGAGGACTTGG	0.517													C	11363187	G	C	11363187	3	2	606	1	0	0	0	0	1	0	0	0	3246	1349	47	4	1243	4	CELF2	10	11363187	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		11363187	124171560	44	50481											
MUC2	4583	broad.mit.edu	37	chr11	1083749	1083749	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccgtcccacaggctgcacgGccccaaagatccacatggac	10	5	9	17	2	0	1	0	0	0	1	3	2	3	2	5	3	1	2	5	3	1	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:1083749G>A	ENST00000441003.2	+	18	2308	c.2281G>A	c.(2281-2283)Gcc>Acc	p.A761T	MUC2_ENST00000359061.5_Missense_Mutation_p.A761T	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	761						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	AGGCTGCACGGCCCCAAAGAT	0.701													A	1083749	G	A	1083749	3	1	606	1	0	0	0	0	1	0	0	0	10051	1203	42	2	2351	2	MUC2	11	1083749	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		1083749	133922767	45	50482											
TSPAN32	10077	broad.mit.edu	37	chr11	2337873	2337874	+	Frame_Shift_Ins	INS	-	-	G																															ggctgcagcttggaccgcaaINSgggcaaatacaccctgaccc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:2337873_2337874insG	ENST00000182290.4	+	8	832_833	c.695_696insG	c.(694-699)aagggcfs	p.KG232fs	TSPAN32_ENST00000451520.2_Frame_Shift_Ins_p.KG221fs|TSPAN32_ENST00000381121.3_Frame_Shift_Ins_p.KG232fs	NM_139022.2	NP_620591.3	Q96QS1	TSN32_HUMAN	tetraspanin 32	232					cell-cell signaling	integral to membrane				breast(1)|central_nervous_system(1)|lung(4)|ovary(1)|skin(1)	8		all_epithelial(84;4.89e-05)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.00791)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000533)|LUSC - Lung squamous cell carcinoma(625;0.082)|Lung(200;0.153)		TTGGACCGCAAGGGCAAATACA	0.658													G	2337874	-	G	2337873	7	5	606	1	0	1	1	0	0	0	0	0	16748	72	3	0	725	0	TSPAN32	11	2337873	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	1254124	2337873	132668643	46	50483											
AHNAK	79026	broad.mit.edu	37	chr11	62289071	62289071	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagggaaacatccacatcaCccttcaccttgggacctttc	11	9	7	14	0	2	0	2	0	0	0	4	3	3	2	4	2	1	0	4	2	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:62289071C>G	ENST00000378024.4	-	5	13092	c.12818G>C	c.(12817-12819)gGt>gCt	p.G4273A	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4273					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				ATCCACATCACCCTTCACCTT	0.493													G	62289071	C	G	62289071	3	3	606	1	0	0	0	0	1	0	0	0	414	507	18	4	4974	4	AHNAK	11	62289071	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	59951198	62289071	72717445	47	50484											
SLCO2B1	11309	broad.mit.edu	37	chr11	74904334	74904335	+	Frame_Shift_Ins	INS	-	-	TG																															ggtcctgtcccaggtatgctINStgtcatccatggctgcgggc																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:74904334_74904335insTG	ENST00000289575.5	+	9	1542_1543	c.1147_1148insTG	c.(1147-1149)ttgfs	p.L383fs	SLCO2B1_ENST00000532236.1_Frame_Shift_Ins_p.L267fs|SLCO2B1_ENST00000341411.4_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000525650.1_Frame_Shift_Ins_p.L239fs|SLCO2B1_ENST00000454962.2_Frame_Shift_Ins_p.L156fs|SLCO2B1_ENST00000531756.1_Frame_Shift_Ins_p.L128fs|SLCO2B1_ENST00000428359.2_Frame_Shift_Ins_p.L361fs	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	383					sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Ergoloid mesylate(DB01049)	CCAGGTATGCTTGTCATCCATG	0.624													TG	74904335	-	TG	74904334	7	5	606	1	0	1	1	0	0	0	0	0	14821	1606	56	0	1181	0	SLCO2B1	11	74904334	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	12615263	74904334	60102182	48	50485											
MMP12	4321	broad.mit.edu	37	chr11	102745470	102745473	+	RNA	DEL	CAAA	CAAA	-																															tttcagctgatacgtaaaagCaaacaaacaaacaaacaaac																								rs28360358		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr11:102745470_102745473delCAAA	ENST00000532855.1	-	0	199							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	TACGTAAaagcaaacaaacaaaca	0.324													-	102745473	CAAA	-	102745470	6	5	606	0	1	1	0	1	0	0	0	0	9726	725	25	0		0	MMP12	11	102745470	RNA	DEL	CAAA	TCGA-HT-A619-01A-11D-A29Q-08	27841136	102745470	32261046	49	50486											
PRPF40B	25766	broad.mit.edu	37	chr12	50037528	50037528	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaactaagaagagaagacAcaagtcggtgagtgaaggaa	20	4	13	4	1	0	5	0	2	0	3	1	8	0	6	0	2	1	0	0	2	8	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:50037528A>G	ENST00000261897.1	+	23	2884	c.2333A>G	c.(2332-2334)cAc>cGc	p.H778R	PRPF40B_ENST00000548825.2_Missense_Mutation_p.H812R|PRPF40B_ENST00000380281.1_Missense_Mutation_p.H791R|FMNL3_ENST00000335154.5_3'UTR			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	791					mRNA processing|RNA splicing	nuclear speck		p.H791R(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						AAGAGAAGACACAAGTCGGTG	0.463													G	50037528	A	G	50037528	3	3	606	1	0	0	0	0	1	0	0	0	12658	159	6	3	2462	3	PRPF40B	12	50037528	Missense_Mutation	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08		50037528	83814367	50	50487											
CIT	11113	broad.mit.edu	37	chr12	120151065	120151065	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccaggacaatgtactTcctgtcccagccttgctgtc	6	12	7	16	0	0	0	0	0	0	0	5	1	4	1	5	1	3	2	5	1	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr12:120151065T>C	ENST00000392521.2	-	35	4577	c.4522A>G	c.(4522-4524)Aag>Gag	p.K1508E	CIT_ENST00000261833.7_Missense_Mutation_p.K1466E|CIT_ENST00000537607.1_5'UTR	NM_001206999.1	NP_001193928.1	O14578	CTRO_HUMAN	citron (rho-interacting, serine/threonine kinase 21)	1466	PH.				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ACAATGTACTTCCTGTCCCAG	0.443													C	120151065	T	C	120151065	3	2	606	1	0	0	0	0	1	0	0	0	3469	1792	62	3	1743	3	CIT	12	120151065	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	70113537	120151065	13700830	51	50488											
WASF3	10810	broad.mit.edu	37	chr13	27239244	27239244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcaaattctcttcaagaCagaattgatcgccttgctgt	12	12	8	9	1	2	4	1	1	1	3	4	4	2	4	1	0	2	2	1	0	3	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:27239244C>G	ENST00000361042.4	+	4	438	c.213C>G	c.(211-213)gaC>gaG	p.D71E	WASF3_ENST00000335327.5_Missense_Mutation_p.D71E|WASF3_ENST00000496788.1_3'UTR			Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	71					actin filament polymerization	cytoplasm|cytoskeleton	actin binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CTCTTCAAGACAGAATTGATC	0.408													G	27239244	C	G	27239244	3	3	606	1	0	0	0	0	1	0	0	0	17356	477	17	4	219	4	WASF3	13	27239244	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		27239244	87930634	52	50489											
OLFM4	10562	broad.mit.edu	37	chr13	53624246	53624246	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggactgtattgggtggcGccattgaatacagatgggag	12	9	15	5	1	0	2	0	1	0	1	0	4	0	4	1	4	1	1	1	4	4	4	rs147184057		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:53624246G>A	ENST00000219022.2	+	5	951	c.873G>A	c.(871-873)gcG>gcA	p.A291A		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	291	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ATTGGGTGGCGCCATTGAATA	0.448													A	53624246	G	A	53624246	2	1	606	1	0	0	0	0	0	0	0	1	10931	1074	38	1		1	OLFM4	13	53624246	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	26385002	53624246	61545632	53	50490											
UGGT2	55757	broad.mit.edu	37	chr13	96592232	96592232	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttctttcttcatcatatttAgaatgaattcccaaaatatc	13	18	2	8	0	4	2	2	1	2	1	6	2	5	2	1	0	0	0	1	0	7	8			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr13:96592232A>G	ENST00000376747.3	-	16	1861	c.1791T>C	c.(1789-1791)tcT>tcC	p.S597S		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	597					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						CATCATATTTAGAATGAATTC	0.358													G	96592232	A	G	96592232	2	3	606	1	0	0	0	0	0	0	0	1	17044	407	15	3		3	UGGT2	13	96592232	Silent	SNP	A	TCGA-HT-A619-01A-11D-A29Q-08	42967986	96592232	18577646	54	50491											
PELI2	57161	broad.mit.edu	37	chr14	56763754	56763754	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtgtgctcggagaagtctgCaaaatactggtctcagatcc	10	10	11	10	2	2	2	1	0	2	2	5	3	3	2	1	2	3	2	1	2	4	1			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr14:56763754C>G	ENST00000267460.4	+	6	1419	c.1133C>G	c.(1132-1134)gCa>gGa	p.A378G		NM_021255.2	NP_067078.1	Q9HAT8	PELI2_HUMAN	pellino E3 ubiquitin protein ligase family member 2	378					innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of protein phosphorylation|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	protein binding			kidney(6)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	22						GAGAAGTCTGCAAAATACTGG	0.532													G	56763754	C	G	56763754	3	3	606	1	0	0	0	0	1	0	0	0	11798	710	25	4	1155	4	PELI2	14	56763754	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		56763754	50585786	55	50492											
VPS18	57617	broad.mit.edu	37	chr15	41193149	41193149	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagcatggccaccaccgCgcttgtgtccatgtctacaa	8	8	10	15	3	1	0	0	0	1	0	2	1	2	0	5	1	2	2	5	1	2	2	rs12914973	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:41193149C>T	ENST00000220509.5	+	4	2472	c.2133C>T	c.(2131-2133)cgC>cgT	p.R711R	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	711					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GCCACCACCGCGCTTGTGTCC	0.632													T	41193149	C	T	41193149	2	4	606	1	0	0	0	0	0	0	0	1	17296	755	27	1		1	VPS18	15	41193149	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		41193149	61338243	56	50493											
AP4E1	23431	broad.mit.edu	37	chr15	51289979	51289979	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgtcttcttataaaattTggaaagatgattgtttattg	12	18	8	3	0	2	2	0	1	2	1	2	3	2	3	0	1	0	1	0	1	5	8			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:51289979T>C	ENST00000261842.5	+	18	2909	c.2803T>C	c.(2803-2805)Tgg>Cgg	p.W935R	AP4E1_ENST00000560508.1_Missense_Mutation_p.W860R|AP4E1_ENST00000561397.1_3'UTR	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	935					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		TTATAAAATTTGGAAAGATGA	0.308													C	51289979	T	C	51289979	3	2	606	1	0	0	0	0	1	0	0	0	754	1812	63	3	2873	3	AP4E1	15	51289979	Missense_Mutation	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08	10096830	51289979	51241413	57	50494											
HERC1	8925	broad.mit.edu	37	chr15	63935628	63935628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaccaaatgttcatgagcCcacctagtccaccagacacc	14	6	6	15	0	1	3	1	1	0	2	2	3	2	3	6	0	1	1	6	0	3	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr15:63935628C>T	ENST00000443617.2	-	58	11393	c.11306G>A	c.(11305-11307)gGg>gAg	p.G3769E		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3769					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GTTCATGAGCCCACCTAGTCC	0.418													T	63935628	C	T	63935628	3	4	606	1	0	0	0	0	1	0	0	0	7112	623	22	2	3363	2	HERC1	15	63935628	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	12645649	63935628	38595764	58	50495											
THOC6	79228	broad.mit.edu	37	chr16	3075763	3075763	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccatcttctcccagagcGtctcaccatgtgggaagttt	8	12	9	12	1	3	2	1	1	3	1	5	3	3	3	3	1	1	1	3	1	1	2			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:3075763G>A	ENST00000326266.8	+	2	390	c.94G>A	c.(94-96)Gtc>Atc	p.V32I	THOC6_ENST00000574549.1_Missense_Mutation_p.V8I|THOC6_ENST00000575576.1_Missense_Mutation_p.V8I|THOC6_ENST00000253952.9_Missense_Mutation_p.V32I	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)	32					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						CTCCCAGAGCGTCTCACCATG	0.567													A	3075763	G	A	3075763	3	1	606	1	0	0	0	0	1	0	0	0	15969	1145	40	1	100	1	THOC6	16	3075763	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		3075763	87278990	59	50496											
RLTPR	146206	broad.mit.edu	37	chr16	67690171	67690171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggaggcccctcccatctcGatcaagtcccgcacccactc	8	6	7	20	3	2	0	1	0	1	0	6	2	4	1	5	2	0	1	5	2	1	0			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:67690171G>A	ENST00000334583.6	+	34	4111	c.3783G>A	c.(3781-3783)tcG>tcA	p.S1261S	RLTPR_ENST00000545661.1_Silent_p.S1225S	NM_001013838.1	NP_001013860.1	Q6F5E8	LR16C_HUMAN	RGD motif, leucine rich repeats, tropomodulin domain and proline-rich containing	1261										breast(1)|cervix(1)|endometrium(4)|kidney(1)|lung(9)|urinary_tract(2)	18		Acute lymphoblastic leukemia(13;3.23e-05)|all_hematologic(13;0.00251)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0146)|Epithelial(162;0.0481)|all cancers(182;0.232)		CTCCCATCTCGATCAAGTCCC	0.582													A	67690171	G	A	67690171	2	1	606	1	0	0	0	0	0	0	0	1	13485	1045	37	1		1	RLTPR	16	67690171	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	64614408	67690171	22664582	60	50497											
MLKL	197259	broad.mit.edu	37	chr16	74725174	74725174	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaccacacaaaacaacttaCgcaatgctgccagcctggag	15	5	8	13	1	0	0	0	0	0	0	0	2	0	1	3	1	7	2	3	1	6	1	rs144019045	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr16:74725174C>T	ENST00000308807.7	-	4	1186		c.e4+1		MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like								ATP binding|protein binding|protein kinase activity	p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						aaacaacttacgcaatgcTGC	0.438													T	74725174	C	T	74725174	5	4	606	1	0	0	0	0	0	0	1	0	9694	550	19	1	755	1	MLKL	16	74725174	Splice_Site	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	7035003	74725174	15629579	61	50498											
MYOCD	93649	broad.mit.edu	37	chr17	12655844	12655844	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctctggcaacccagtgccGaactttggggatataacgac	10	9	11	11	2	1	0	0	0	1	0	1	3	1	1	2	3	5	2	2	3	4	3	rs150316964	byFrequency	TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:12655844G>A	ENST00000425538.1	+	10	1439	c.1239G>A	c.(1237-1239)ccG>ccA	p.P413P	MYOCD_ENST00000395988.1_3'UTR|AC005358.1_ENST00000609971.1_Silent_p.P317P|MYOCD_ENST00000343344.4_Silent_p.P413P	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	413					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.P413P(2)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		ACCCAGTGCCGAACTTTGGGG	0.552													A	12655844	G	A	12655844	2	1	606	1	0	0	0	0	0	0	0	1	10163	1045	37	1		1	MYOCD	17	12655844	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		12655844	68539366	62	50499											
TAOK1	57551	broad.mit.edu	37	chr17	27849514	27849514	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaagcatgtcatggaagttCgacaacagcctaagagtttg	14	9	11	7	1	1	1	1	0	0	1	2	4	1	2	1	1	3	3	1	1	4	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:27849514C>T	ENST00000261716.3	+	17	2644	c.2125C>T	c.(2125-2127)Cga>Tga	p.R709*	TAOK1_ENST00000536202.1_Intron	NM_020791.2	NP_065842.1	Q7L7X3	TAOK1_HUMAN	TAO kinase 1	709					mitotic prometaphase	cytosol|intracellular membrane-bounded organelle	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(14)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28			Colorectal(6;0.198)			CATGGAAGTTCGACAACAGCC	0.398													T	27849514	C	T	27849514	4	4	606	1	0	0	0	0	0	1	0	0	15644	876	31	1	2187	1	TAOK1	17	27849514	Nonsense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	15193670	27849514	53345696	63	50500											
SYNRG	11276	broad.mit.edu	37	chr17	35913795	35913795	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgctagaccagaatattccCcaaaaaggctgaattctcca	14	9	7	11	0	1	3	0	1	1	2	3	3	2	3	4	1	1	2	4	1	6	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:35913795C>T	ENST00000339208.6	-	14	2170	c.2030G>A	c.(2029-2031)gGg>gAg	p.G677E	SYNRG_ENST00000588194.1_5'UTR|SYNRG_ENST00000502449.2_Missense_Mutation_p.G599E|SYNRG_ENST00000394378.2_Missense_Mutation_p.G599E|SYNRG_ENST00000346661.4_Missense_Mutation_p.G677E|SYNRG_ENST00000585472.1_Missense_Mutation_p.G598E|SYNRG_ENST00000591288.1_Missense_Mutation_p.G516E|SYNRG_ENST00000345615.4_Missense_Mutation_p.G599E	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	677	Interaction with A1P1G1 and A1P1G2.				endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AGAATATTCCCCAAAAAGGCT	0.433													T	35913795	C	T	35913795	3	4	606	1	0	0	0	0	1	0	0	0	15557	623	22	2	2023	2	SYNRG	17	35913795	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08	8064281	35913795	45281415	64	50501											
KRT38	8687	broad.mit.edu	37	chr17	39595476	39595476	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgctcgtggttgctcttgagGgagagctgctcctccttcag	4	13	13	11	1	2	2	1	1	1	1	5	3	4	2	2	2	4	5	2	2	0	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr17:39595476G>C	ENST00000246646.3	-	3	710	c.711C>G	c.(709-711)tcC>tcG	p.S237S		NM_006771.3	NP_006762.3	O76015	KRT38_HUMAN	keratin 38	237	Coil 1B.|Rod.					intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	29		Breast(137;0.000496)				TGCTCTTGAGGGAGAGCTGCT	0.657													C	39595476	G	C	39595476	2	2	606	1	0	0	0	0	0	0	0	1	8533	1219	43	4		4	KRT38	17	39595476	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	3681681	39595476	41599734	65	50502											
MUC16	94025	broad.mit.edu	37	chr19	9084076	9084076	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtttgctccagaggtgggtGtagttggggtctgtggtgaa	6	13	18	4	0	1	2	0	1	1	1	2	2	2	2	1	5	1	4	1	5	2	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:9084076G>T	ENST00000397910.4	-	1	7942	c.7739C>A	c.(7738-7740)aCa>aAa	p.T2580K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	2580	Ser-rich.|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						AGAGGTGGGTGTAGTTGGGGT	0.483													T	9084076	G	T	9084076	3	4	606	1	0	0	0	0	1	0	0	0	10049	1377	48	4	36120	4	MUC16	19	9084076	Missense_Mutation	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08		9084076	50044907	66	50503											
CRTC1	23373	broad.mit.edu	37	chr19	18879357	18879357	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgccttcttcacccaggcGggctcccagcagccaccgcc	6	6	9	20	3	2	0	1	0	1	0	3	0	3	0	6	2	3	2	6	2	1	3			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:18879357G>A	ENST00000338797.6	+	11	1147	c.1122G>A	c.(1120-1122)gcG>gcA	p.A374A	CRTC1_ENST00000601916.1_Intron|CRTC1_ENST00000321949.8_Silent_p.A358A|CRTC1_ENST00000594658.1_Silent_p.A317A	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	358					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						TCACCCAGGCGGGCTCCCAGC	0.751													A	18879357	G	A	18879357	2	1	606	1	0	0	0	0	0	0	0	1	3930	1103	39	1		1	CRTC1	19	18879357	Silent	SNP	G	TCGA-HT-A619-01A-11D-A29Q-08	9795281	18879357	40249626	67	50504											
CIC	23152	broad.mit.edu	37	chr19	42795608	42795609	+	Frame_Shift_Ins	INS	-	-	C																															agtctgtaccctccgccccaINSccccccaaaggtgagacctg																										TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr19:42795608_42795609insC	ENST00000572681.2	+	11	5483_5484	c.5415_5416insC	c.(5416-5418)cccfs	p.P1806fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.P897fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.P897fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	897					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCCGCCCCACCCCCCAAAGG	0.609			"Mis, F, S"		oligodendroglioma								C	42795609	-	C	42795608	7	5	606	1	0	1	1	0	0	0	0	0	3454	146	6	0	2726	0	CIC	19	42795608	Frame_Shift_Ins	INS	-	TCGA-HT-A619-01A-11D-A29Q-08	23916251	42795608	16333375	68	50505											
COX4I2	84701	broad.mit.edu	37	chr20	30231298	30231298	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttgtgtcttcttcttcatTggattcgcagctctggtgat	4	18	11	8	1	5	1	1	1	4	0	6	2	5	2	0	3	1	3	0	3	0	6			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr20:30231298T>C	ENST00000376075.3	+	4	414	c.339T>C	c.(337-339)atT>atC	p.I113I	COX4I2_ENST00000490030.1_Intron	NM_032609.2	NP_115998.2	Q96KJ9	COX42_HUMAN	cytochrome c oxidase subunit IV isoform 2 (lung)	113					cellular respiration		cytochrome-c oxidase activity			breast(1)|endometrium(1)|large_intestine(4)|liver(1)|lung(3)|ovary(1)	11	all_cancers(5;7.12e-06)|Lung NSC(7;3.95e-06)|all_epithelial(3;4.36e-06)|all_lung(7;6.68e-06)|all_hematologic(12;0.158)|Ovarian(7;0.198)		Epithelial(4;1.01e-05)|all cancers(5;9.46e-05)|OV - Ovarian serous cystadenocarcinoma(3;0.00121)|Colorectal(19;0.0055)|COAD - Colon adenocarcinoma(19;0.0264)			TCTTCTTCATTGGATTCGCAG	0.562													C	30231298	T	C	30231298	2	2	606	1	0	0	0	0	0	0	0	1	3801	1800	63	3		3	COX4I2	20	30231298	Silent	SNP	T	TCGA-HT-A619-01A-11D-A29Q-08		30231298	32794222	69	50506											
CRYBB3	1417	broad.mit.edu	37	chr22	25603098	25603098	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccactggaatgagtgggaCgccagccagccgcagctgca	9	4	14	14	3	0	1	0	1	0	0	0	3	0	3	4	2	4	3	4	2	1	0	rs140985147		TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chr22:25603098C>T	ENST00000215855.2	+	6	635	c.555C>T	c.(553-555)gaC>gaT	p.D185D	CRYBB3_ENST00000404334.1_3'UTR	NM_004076.3	NP_004067.1	P26998	CRBB3_HUMAN	crystallin, beta B3	185	Beta/gamma crystallin 'Greek key' 4.				visual perception		protein binding|structural constituent of eye lens			large_intestine(2)|lung(2)|prostate(1)	5						ATGAGTGGGACGCCAGCCAGC	0.652													T	25603098	C	T	25603098	2	4	606	1	0	0	0	0	0	0	0	1	3943	535	19	1		1	CRYBB3	22	25603098	Silent	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		25603098	25701468	70	50507											
ACE2	59272	broad.mit.edu	37	chrX	15609937	15609937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctttcccaagcccagagcCtctcattgtagtctaaactg	10	11	7	13	0	2	1	1	0	2	1	4	1	3	1	3	0	4	2	3	0	4	4			TCGA-HT-A619-01A-11D-A29Q-08	TCGA-HT-A619-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28c7b83b-417b-4a76-97cb-a6d8295c7122	eb32ff7d-ff3c-43c2-aee5-6fd5dddd08c9	g.chrX:15609937C>T	ENST00000427411.1	-	5	698	c.482G>A	c.(481-483)aGg>aAg	p.R161K	ACE2_ENST00000252519.3_Missense_Mutation_p.R161K	NM_021804.2	NP_068576.1	Q9BYF1	ACE2_HUMAN	angiotensin I converting enzyme 2	161					angiotensin-mediated drinking behavior|proteolysis|receptor biosynthetic process|regulation of cell proliferation|virion attachment, binding of host cell surface receptor	cell surface|extracellular space|integral to membrane|membrane raft|plasma membrane	carboxypeptidase activity|glycoprotein binding|metallopeptidase activity|peptidyl-dipeptidase activity|viral receptor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	32	Hepatocellular(33;0.183)				Moexipril(DB00691)	AGCCCAGAGCCTCTCATTGTA	0.398													T	15609937	C	T	15609937	3	4	606	1	0	0	0	0	1	0	0	0	137	681	24	2	1995	2	ACE2	23	15609937	Missense_Mutation	SNP	C	TCGA-HT-A619-01A-11D-A29Q-08		15609937	139660623	71	50508											
HMCN1	83872	broad.mit.edu	37	chr1	186084409	186084409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctccatctattgctccGggtcctaccaacatgactgt	7	13	7	14	1	1	1	0	1	1	0	5	1	5	1	5	1	3	2	5	1	3	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr1:186084409G>A	ENST00000271588.4	+	75	11653	c.11424G>A	c.(11422-11424)ccG>ccA	p.P3808P	HMCN1_ENST00000367492.2_Silent_p.P3808P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3808	Ig-like C2-type 37.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTATTGCTCCGGGTCCTACCA	0.398													A	186084409	G	A	186084409	2	1	607	1	0	0	0	0	0	0	0	1	7275	1103	39	1		1	HMCN1	1	186084409	Silent	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		186084409	63166212	1	50509											
GALNT14	79623	broad.mit.edu	37	chr2	31178596	31178596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcgccccgaatccgggacCggaccagacctgcagtcagg	9	3	13	16	4	1	1	1	0	0	1	2	4	2	3	6	3	2	1	6	3	1	0			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:31178596C>T	ENST00000349752.5	-	6	1181	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	GALNT14_ENST00000420311.2_Missense_Mutation_p.R146Q|GALNT14_ENST00000324589.5_Missense_Mutation_p.R186Q|GALNT14_ENST00000406653.1_Missense_Mutation_p.R161Q|GALNT14_ENST00000356174.3_Missense_Mutation_p.R148Q	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)	181	Catalytic subdomain A.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					AATCCGGGACCGGACCAGACC	0.602													T	31178596	C	T	31178596	3	4	607	1	0	0	0	0	1	0	0	0	6266	652	23	1	1156	1	GALNT14	2	31178596	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		31178596	212020777	2	50510											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	607	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	177934516	209113112	34086261	3	50511											
CEP72	55722	broad.mit.edu	37	chr5	620298	620298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcgtggatgtggacttcCggctgaaccccgtggtgaag	7	9	15	10	3	0	2	0	2	0	0	2	4	1	4	3	4	2	2	3	4	2	1	rs148249239		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:620298C>T	ENST00000264935.5	+	3	415	c.325C>T	c.(325-327)Cgg>Tgg	p.R109W	CEP72_ENST00000444221.1_Missense_Mutation_p.R109W	NM_018140.3	NP_060610.2	Q9P209	CEP72_HUMAN	centrosomal protein 72kDa	109					G2/M transition of mitotic cell cycle|gamma-tubulin complex localization|spindle organization	centrosome|cytosol				autonomic_ganglia(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(5)|ovary(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(2)	20			Epithelial(17;0.000339)|all cancers(22;0.00137)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|Lung(60;0.0863)			TGTGGACTTCCGGCTGAACCC	0.572													T	620298	C	T	620298	3	4	607	1	0	0	0	0	1	0	0	0	3290	643	23	1	335	1	CEP72	5	620298	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		620298	180294962	4	50512											
GHR	2690	broad.mit.edu	37	chr5	42699991	42699991	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagtttaactgggattcatGcagatatccaagtgagatgg	12	12	11	6	0	2	2	2	1	0	2	3	4	3	3	1	2	2	2	1	2	3	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr5:42699991G>T	ENST00000230882.4	+	6	695	c.505G>T	c.(505-507)Gca>Tca	p.A169S	GHR_ENST00000357703.3_Missense_Mutation_p.A147S|GHR_ENST00000537449.1_5'UTR	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	169	Fibronectin type-III.				2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	TGGGATTCATGCAGATATCCA	0.428													T	42699991	G	T	42699991	3	4	607	1	0	0	0	0	1	0	0	0	6427	1319	46	4	523	4	GHR	5	42699991	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08	42079693	42699991	138215269	5	50513											
TNFAIP3	7128	broad.mit.edu	37	chr6	138201287	138201287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctggggagggaatgCggcacccttggaagcaccat	8	6	15	12	2	0	0	0	0	0	0	0	3	0	3	4	5	3	2	4	5	2	1			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr6:138201287C>T	ENST00000237289.4	+	8	2052	c.1986C>T	c.(1984-1986)tgC>tgT	p.C662C		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	662	Interaction with NAF1 (By similarity).				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.C662fs*36(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		GGAGGGAATGCGGCACCCTTG	0.502			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								T	138201287	C	T	138201287	2	4	607	1	0	0	0	0	0	0	0	1	16374	776	27	1		1	TNFAIP3	6	138201287	Silent	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		138201287	32913780	6	50514											
POLR3A	11128	broad.mit.edu	37	chr10	79777419	79777419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaggtgtctctctacgaTgtcaccatacttgagctctt	8	14	9	10	1	4	2	1	2	3	0	5	4	4	2	1	1	3	1	1	1	2	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr10:79777419T>C	ENST00000372371.3	-	10	1482	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	POLR3A_ENST00000484760.1_5'UTR	NM_007055.3	NP_008986.2	O14802	RPC1_HUMAN	polymerase (RNA) III (DNA directed) polypeptide A, 155kDa	449					innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	DNA-directed RNA polymerase III complex	DNA binding|DNA-directed RNA polymerase activity|ribonucleoside binding|zinc ion binding			breast(1)|endometrium(7)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	all_cancers(46;0.0356)|all_epithelial(25;0.00102)|Breast(12;0.00124)|Prostate(51;0.0095)		Epithelial(14;0.00161)|OV - Ovarian serous cystadenocarcinoma(4;0.00323)|all cancers(16;0.00646)			CTCTCTACGATGTCACCATAC	0.448													C	79777419	T	C	79777419	3	2	607	1	0	0	0	0	1	0	0	0	12305	1464	51	3	2915	3	POLR3A	10	79777419	Missense_Mutation	SNP	T	TCGA-HT-A61A-01A-11D-A29Q-08		79777419	55757328	7	50515											
LTBP3	4054	broad.mit.edu	37	chr11	65306608	65306608	+	Frame_Shift_Del	DEL	T	T	-																															cggctgcgcgcgaagccggcTttgcagacgcagcggaagga																										TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr11:65306608delT	ENST00000301873.5	-	28	4123	c.3855delA	c.(3853-3855)aaafs	p.K1285fs	LTBP3_ENST00000530785.1_Frame_Shift_Del_p.K288fs|LTBP3_ENST00000532932.1_Frame_Shift_Del_p.K715fs|LTBP3_ENST00000536982.1_Frame_Shift_Del_p.K864fs|LTBP3_ENST00000322147.4_Frame_Shift_Del_p.K1238fs|LTBP3_ENST00000529189.1_Frame_Shift_Del_p.K241fs	NM_001130144.2	NP_001123616.1	Q9NS15	LTBP3_HUMAN	latent transforming growth factor beta binding protein 3	1285	EGF-like 13; calcium-binding (Potential).					extracellular region	calcium ion binding|growth factor binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|prostate(2)|upper_aerodigestive_tract(3)	23						CGAAGCCGGCTTTGCAGACGC	0.706													-	65306608	T	-	65306608	7	5	607	1	0	1	0	1	0	0	0	0	9145	1606	56	0	60	0	LTBP3	11	65306608	Frame_Shift_Del	DEL	T	TCGA-HT-A61A-01A-11D-A29Q-08		65306608	69699908	8	50516											
BRCA2	675	broad.mit.edu	37	chr13	32907165	32907165	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcacctaaagagactttcaAtgcaagtttttcaggtcata	14	13	6	8	0	4	1	4	0	0	1	4	2	4	1	1	1	1	2	1	1	5	5	rs80358439		TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr13:32907165A>G	ENST00000544455.1	+	10	1777	c.1550A>G	c.(1549-1551)aAt>aGt	p.N517S	BRCA2_ENST00000380152.3_Missense_Mutation_p.N517S	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	517					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GAGACTTTCAATGCAAGTTTT	0.373			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			G	32907165	A	G	32907165	3	3	607	1	0	0	0	0	1	0	0	0	1508	101	4	3	1584	3	BRCA2	13	32907165	Missense_Mutation	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		32907165	82262713	9	50517											
ALDH6A1	4329	broad.mit.edu	37	chr14	74535667	74535667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctttgatgtccggatgatCgcaaataaaatttacagctt	12	14	8	7	2	0	2	0	2	0	0	2	3	1	3	1	1	3	3	1	1	4	5			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr14:74535667C>A	ENST00000553458.1	-	7	846	c.748G>T	c.(748-750)Gat>Tat	p.D250Y	ALDH6A1_ENST00000555126.1_5'UTR|ALDH6A1_ENST00000350259.4_Missense_Mutation_p.D237Y|AC005484.5_ENST00000492026.1_RNA|CCDC176_ENST00000553773.1_Intron	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	250						mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)	NADH(DB00157)	TCCGGATGATCGCAAATAAAA	0.418													A	74535667	C	A	74535667	3	1	607	1	0	0	0	0	1	0	0	0	503	884	31	4	883	4	ALDH6A1	14	74535667	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		74535667	32813873	10	50518											
SPG11	80208	broad.mit.edu	37	chr15	44858098	44858098	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagtccatcagcttgtggCggcccaagttgatgagcatt	9	11	11	10	1	1	2	1	2	0	0	2	2	2	2	2	2	3	3	2	2	2	4			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr15:44858098C>T	ENST00000261866.7	-	38	6969	c.6953G>A	c.(6952-6954)cGc>cAc	p.R2318H	SPG11_ENST00000535302.2_Missense_Mutation_p.R2205H|SPG11_ENST00000427534.2_Intron	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	2318					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CAGCTTGTGGCGGCCCAAGTT	0.527													T	44858098	C	T	44858098	3	4	607	1	0	0	0	0	1	0	0	0	15137	768	27	1	390	1	SPG11	15	44858098	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08		44858098	57673294	11	50519											
MYBBP1A	10514	broad.mit.edu	37	chr17	4445773	4445773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcacctgatgacggggccGcaccgggcccgtgatatgct	6	8	13	14	4	1	3	1	3	1	0	2	3	1	3	4	3	1	2	4	3	1	1			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:4445773G>A	ENST00000254718.4	-	22	3379	c.3073C>T	c.(3073-3075)Cgg>Tgg	p.R1025W	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.R1025W			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	1025					nucleocytoplasmic transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NLS-dependent protein nuclear import complex|nucleolus	DNA binding|DNA-directed DNA polymerase activity|transcription factor binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						TGACGGGGCCGCACCGGGCCC	0.617													A	4445773	G	A	4445773	3	1	607	1	0	0	0	0	1	0	0	0	10084	1086	38	1	973	1	MYBBP1A	17	4445773	Missense_Mutation	SNP	G	TCGA-HT-A61A-01A-11D-A29Q-08		4445773	76749437	12	50520											
EPN2	22905	broad.mit.edu	37	chr17	19213263	19213263	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agactagtggagaagaggagCttcagctgcagctggcactt	11	8	14	8	0	1	3	1	0	0	3	1	5	1	4	0	3	4	5	0	3	2	3			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr17:19213263C>G	ENST00000314728.5	+	5	1316	c.832C>G	c.(832-834)Ctt>Gtt	p.L278V	EPN2_ENST00000395618.3_5'UTR|EPN2_ENST00000395626.1_Missense_Mutation_p.L278V|EPN2_ENST00000571254.1_Missense_Mutation_p.L221V|EPN2_ENST00000347697.2_Missense_Mutation_p.L221V|EPN2_ENST00000575595.1_5'UTR|EPN2_ENST00000395620.2_Missense_Mutation_p.L221V	NM_014964.4	NP_055779.2	O95208	EPN2_HUMAN	epsin 2	278					endocytosis		lipid binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	19	all_cancers(12;3.11e-05)|all_epithelial(12;0.00121)|Hepatocellular(7;0.00345)|Breast(13;0.143)					AGAAGAGGAGCTTCAGCTGCA	0.597													G	19213263	C	G	19213263	3	3	607	1	0	0	0	0	1	0	0	0	5227	797	28	4	842	4	EPN2	17	19213263	Missense_Mutation	SNP	C	TCGA-HT-A61A-01A-11D-A29Q-08	14767490	19213263	61981947	13	50521											
ZSCAN5B	342933	broad.mit.edu	37	chr19	56704284	56704284	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcagctgaacatcctgaaAttcatgtgccaagtctcagg	11	9	11	10	0	2	2	2	2	1	0	4	2	3	2	2	2	3	2	2	2	3	1			TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr19:56704284A>G	ENST00000586855.2	-	2	451	c.138T>C	c.(136-138)aaT>aaC	p.N46N	ZSCAN5B_ENST00000358992.3_Silent_p.N46N			A6NJL1	ZSA5B_HUMAN	zinc finger and SCAN domain containing 5B	46	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.N46N(2)		breast(1)|endometrium(5)|large_intestine(3)|lung(23)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						ACATCCTGAAATTCATGTGCC	0.577													G	56704284	A	G	56704284	2	3	607	1	0	0	0	0	0	0	0	1	18336	98	4	3		3	ZSCAN5B	19	56704284	Silent	SNP	A	TCGA-HT-A61A-01A-11D-A29Q-08		56704284	2424699	14	50522											
FTCD	10841	broad.mit.edu	37	chr21	47572855	47572855	+	Frame_Shift_Del	DEL	A	A	-																															tcctctgccagcctctggccAaaggcctgggcgcagagcac																										TCGA-HT-A61A-01A-11D-A29Q-08	TCGA-HT-A61A-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c19bfe8-48ac-4daa-a501-207daba21c54	c405c276-2fbb-43f3-8810-d309682f8196	g.chr21:47572855delA	ENST00000397748.1	-	3	376	c.333delT	c.(331-333)tttfs	p.F111fs	FTCD_ENST00000359679.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000355384.2_Frame_Shift_Del_p.F111fs|FTCD_ENST00000397746.3_Frame_Shift_Del_p.F111fs|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397743.1_Frame_Shift_Del_p.F111fs|FTCD_ENST00000291670.5_Frame_Shift_Del_p.F111fs			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	111	Formiminotransferase N-subdomain (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GCCTCTGGCCAAAGGCCTGGG	0.672													-	47572855	A	-	47572855	7	5	607	1	0	1	0	1	0	0	0	0	6133	127	5	0	1340	0	FTCD	21	47572855	Frame_Shift_Del	DEL	A	TCGA-HT-A61A-01A-11D-A29Q-08		47572855	557040	15	50523											
MEGF6	1953	broad.mit.edu	37	chr1	3428609	3428609	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcccagctcatagcccgCgtgacacacgcacttgaagg	9	5	12	15	4	1	2	1	2	0	0	1	2	1	2	2	2	2	2	2	2	2	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:3428609C>A	ENST00000356575.4	-	8	1163	c.937G>T	c.(937-939)Gcg>Tcg	p.A313S	MEGF6_ENST00000294599.4_Missense_Mutation_p.A208S	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	313	EGF-like 5; calcium-binding (Potential).		A -> V (in dbSNP:rs11585362).			extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		TCATAGCCCGCGTGACACACG	0.667													A	3428609	C	A	3428609	3	1	608	1	0	0	0	0	1	0	0	0	9537	768	27	4	3808	4	MEGF6	1	3428609	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		3428609	245822012	1	50524											
FAM43B	163933	broad.mit.edu	37	chr1	20880268	20880270	+	In_Frame_Del	DEL	GAG	GAG	-																															gcagcatccaggaggaggacGaggaggaggaggaggacgac																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:20880268_20880270delGAG	ENST00000332947.4	+	1	1337_1339	c.802_804delGAG	c.(802-804)gagdel	p.E272del		NM_207334.2	NP_997217.1	Q6ZT52	FA43B_HUMAN	family with sequence similarity 43, member B	272										large_intestine(1)|lung(2)	3		Colorectal(325;0.000147)|Renal(390;0.000469)|Lung NSC(340;0.00412)|all_lung(284;0.00419)|Breast(348;0.00979)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0427)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|COAD - Colon adenocarcinoma(152;1.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000132)|Kidney(64;0.00016)|GBM - Glioblastoma multiforme(114;0.000399)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.195)		ggaggaggacgaggaggaggagg	0.744													-	20880270	GAG	-	20880268	7	5	608	1	0	1	0	1	0	0	0	0	5614	1059	37	0	804	0	FAM43B	1	20880268	In_Frame_Del	DEL	GAG	TCGA-HT-A61B-01A-11D-A29Q-08	17451659	20880268	228370353	2	50525											
KCNA2	3737	broad.mit.edu	37	chr1	111146564	111146564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcctgctggccttgctgagCgtcctctggcttctcagcca	3	11	12	15	1	2	1	1	1	2	0	4	1	3	1	4	3	4	3	4	3	0	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:111146564C>T	ENST00000485317.1	-	3	1514	c.841G>A	c.(841-843)Gct>Act	p.A281T	KCNA2_ENST00000369770.3_Missense_Mutation_p.A281T|KCNA2_ENST00000440270.1_Missense_Mutation_p.A281T|KCNA2_ENST00000316361.4_Missense_Mutation_p.A281T			P16389	KCNA2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 2	281						juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity			endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		all_cancers(81;5.55e-06)|all_epithelial(167;1.87e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000398)		Colorectal(144;0.00878)|Lung(183;0.0234)|all cancers(265;0.0492)|Epithelial(280;0.0529)|COAD - Colon adenocarcinoma(174;0.131)|LUSC - Lung squamous cell carcinoma(189;0.133)|READ - Rectum adenocarcinoma(129;0.191)		CCTTGCTGAGCGTCCTCTGGC	0.522													T	111146564	C	T	111146564	3	4	608	1	0	0	0	0	1	0	0	0	8061	768	27	1	662	1	KCNA2	1	111146564	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	90266296	111146564	138104057	3	50526											
IPO9	55705	broad.mit.edu	37	chr1	201841994	201841994	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgctccagcatggcatcaAtgcagatgacaaacggctac	12	7	10	12	1	1	2	1	1	0	1	2	2	2	2	1	2	5	6	1	2	3	1	rs141172151		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:201841994A>G	ENST00000361565.4	+	20	2684	c.2615A>G	c.(2614-2616)aAt>aGt	p.N872S		NM_018085.4	NP_060555.2	Q96P70	IPO9_HUMAN	importin 9	872					protein import into nucleus	cytoplasm|nucleus	histone binding|protein transporter activity			cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	38						CATGGCATCAATGCAGATGAC	0.527													G	201841994	A	G	201841994	3	3	608	1	0	0	0	0	1	0	0	0	7857	101	4	3	2693	3	IPO9	1	201841994	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	90695430	201841994	47408627	4	50527											
OR2T12	127064	broad.mit.edu	37	chr1	248458438	248458438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccgtcagctgcacccaggAgccaggacgacatggtcatc	9	5	13	14	2	2	0	2	0	0	0	3	3	2	2	3	4	3	2	3	4	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr1:248458438A>G	ENST00000317996.1	-	1	442	c.443T>C	c.(442-444)cTc>cCc	p.L148P		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	148					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.L148H(1)		endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			TGCACCCAGGAGCCAGGACGA	0.612													G	248458438	A	G	248458438	3	3	608	1	0	0	0	0	1	0	0	0	11095	304	11	3	522	3	OR2T12	1	248458438	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	46616444	248458438	792183	5	50528											
C2orf53	339779	broad.mit.edu	37	chr2	27360157	27360157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtgcctgggactgggtcGgcccgggcctgagctgctgg	2	8	20	11	2	0	1	0	1	0	0	1	2	0	2	3	6	3	2	3	6	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:27360157G>A	ENST00000335524.3	-	3	1566	c.1041C>T	c.(1039-1041)gcC>gcT	p.A347A		NM_178553.3	NP_848648.2	Q53SZ7	CB053_HUMAN	chromosome 2 open reading frame 53	347										cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GGACTGGGTCGGCCCGGGCCT	0.637													A	27360157	G	A	27360157	2	1	608	1	0	0	0	0	0	0	0	1	2195	1103	39	1		1	C2orf53	2	27360157	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		27360157	215839216	6	50529											
FAM126B	285172	broad.mit.edu	37	chr2	201876188	201876188	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgttcccatctttatcaGcgatttcctatagtcaaaaa	12	16	4	9	1	3	0	2	0	1	0	5	1	5	0	2	0	1	1	2	0	6	8			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:201876188G>A	ENST00000418596.3	-	6	528	c.341C>T	c.(340-342)gCt>gTt	p.A114V		NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCTTTATCAGCGATTTCCTA	0.303													A	201876188	G	A	201876188	3	1	608	1	0	0	0	0	1	0	0	0	5475	971	34	2	1279	2	FAM126B	2	201876188	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	174516031	201876188	41323185	7	50530											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	608	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	7236924	209113112	34086261	8	50531											
CCDC108	255101	broad.mit.edu	37	chr2	219868765	219868765	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattgcatggactcctgggActcaggctgtggtgtgggcc	5	10	15	11	0	1	0	1	0	0	0	2	2	2	2	3	5	1	2	3	5	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:219868765A>T	ENST00000341552.5	-	33	5547	c.5464T>A	c.(5464-5466)Tcc>Acc	p.S1822T	CCDC108_ENST00000453220.1_Missense_Mutation_p.S1822T|CCDC108_ENST00000441968.1_Missense_Mutation_p.S1822T|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1822	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GACTCCTGGGACTCAGGCTGT	0.577													T	219868765	A	T	219868765	3	4	608	1	0	0	0	0	1	0	0	0	2769	275	10	5	325	5	CCDC108	2	219868765	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	10755653	219868765	23330608	9	50532											
ESPNL	339768	broad.mit.edu	37	chr2	239040177	239040177	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggatacggagcctggccGcaagtcaggtctgaccctgc	7	7	14	13	2	2	1	1	1	1	0	2	3	2	3	3	4	3	1	3	4	2	1	rs143407493		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr2:239040177G>A	ENST00000343063.3	+	9	3085	c.2822G>A	c.(2821-2823)cGc>cAc	p.R941H	ESPNL_ENST00000409169.1_Missense_Mutation_p.R897H|ESPNL_ENST00000409506.1_Missense_Mutation_p.R573H|ESPNL_ENST00000477241.1_3'UTR	NM_194312.2	NP_919288.2	Q6ZVH7	ESPNL_HUMAN	espin-like	941										endometrium(1)|lung(8)|pancreas(2)|skin(2)	13		Breast(86;7.61e-05)|Renal(207;0.00183)|Ovarian(221;0.0481)|all_hematologic(139;0.158)|all_lung(227;0.198)|Melanoma(123;0.203)|Hepatocellular(293;0.244)		Epithelial(121;4.71e-24)|OV - Ovarian serous cystadenocarcinoma(60;3.02e-12)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.63e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000109)|Lung(119;0.0108)|LUSC - Lung squamous cell carcinoma(224;0.0253)		GAGCCTGGCCGCAAGTCAGGT	0.731													A	239040177	G	A	239040177	3	1	608	1	0	0	0	0	1	0	0	0	5296	1087	38	1	2856	1	ESPNL	2	239040177	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	19171412	239040177	4159196	10	50533											
ITPR1	3708	broad.mit.edu	37	chr3	4699950	4699950	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctgcgtggaggtgacaGccttgtcccaaggtatcatt	8	11	11	11	1	2	1	1	1	1	0	3	2	3	2	2	3	2	1	2	3	2	3	rs6766212		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:4699950G>A	ENST00000302640.8	+	12	1444	c.1094G>A	c.(1093-1095)aGc>aAc	p.S365N	ITPR1_ENST00000456211.2_Missense_Mutation_p.S365N|ITPR1_ENST00000443694.2_Missense_Mutation_p.S365N|ITPR1_ENST00000354582.6_Missense_Mutation_p.S380N|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000357086.4_Missense_Mutation_p.S380N|ITPR1_ENST00000423119.2_Missense_Mutation_p.S380N	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	380	MIR 4.				activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		GGAGGTGACAGCCTTGTCCCA	0.493													A	4699950	G	A	4699950	3	1	608	1	0	0	0	0	1	0	0	0	7978	971	34	2	1181	2	ITPR1	3	4699950	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		4699950	193322480	11	50534											
GOLGA4	2803	broad.mit.edu	37	chr3	37396655	37396655	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atcagactcagaaaattttgGaaagagaagatgctcggctg	15	9	11	6	1	2	4	2	0	0	4	3	6	2	5	0	2	1	2	0	2	4	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:37396655G>T	ENST00000361924.2	+	22	7014	c.6640G>T	c.(6640-6642)Gaa>Taa	p.E2214*	GOLGA4_ENST00000356847.4_Nonsense_Mutation_p.E2229*|GOLGA4_ENST00000444882.1_Intron	NM_002078.4	NP_002069.2	Q13439	GOGA4_HUMAN	golgin A4	2214	GRIP.				Golgi to plasma membrane protein transport	Golgi membrane|trans-Golgi network	protein binding	p.L2213_E2214>F*(2)		NS(2)|breast(3)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(17)|liver(2)|lung(16)|ovary(4)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						GAAAATTTTGGAAAGAGAAGA	0.383													T	37396655	G	T	37396655	4	4	608	1	0	0	0	0	0	1	0	0	6611	1175	41	4	6796	4	GOLGA4	3	37396655	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	32696705	37396655	160625775	12	50535											
DNASE1L3	1776	broad.mit.edu	37	chr3	58190566	58190566	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcgtctccatcctgataGtcatggtagtgataactcct	8	14	8	11	1	3	2	1	2	2	0	6	2	5	2	3	1	2	1	3	1	3	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:58190566G>C	ENST00000483681.1	-	6	944	c.363C>G	c.(361-363)gaC>gaG	p.D121E	DNASE1L3_ENST00000394549.2_Missense_Mutation_p.D121E|DNASE1L3_ENST00000486455.1_Missense_Mutation_p.D91E|DNASE1L3_ENST00000318316.3_Missense_Mutation_p.D121E			Q13609	DNSL3_HUMAN	deoxyribonuclease I-like 3	121					apoptosis|DNA catabolic process	nucleus	calcium ion binding|DNA binding|endodeoxyribonuclease activity, producing 5'-phosphomonoesters			breast(2)|large_intestine(4)|lung(6)	12				BRCA - Breast invasive adenocarcinoma(55;0.00021)|KIRC - Kidney renal clear cell carcinoma(284;0.0445)|Kidney(284;0.0556)|OV - Ovarian serous cystadenocarcinoma(275;0.202)		CATCCTGATAGTCATGGTAGT	0.493													C	58190566	G	C	58190566	3	2	608	1	0	0	0	0	1	0	0	0	4702	1020	36	4	574	4	DNASE1L3	3	58190566	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	20793911	58190566	139831864	13	50536											
TP63	8626	broad.mit.edu	37	chr3	189604292	189604292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcttatcaaccctcagcagCgcaacgccctcactcctaca	11	7	5	18	2	3	0	3	0	0	0	4	0	4	0	3	0	6	3	3	0	4	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr3:189604292C>T	ENST00000264731.3	+	11	1548	c.1459C>T	c.(1459-1461)Cgc>Tgc	p.R487C	TP63_ENST00000382063.4_Missense_Mutation_p.R402C|TP63_ENST00000449992.1_Missense_Mutation_p.R308C|TP63_ENST00000456148.1_Missense_Mutation_p.R389C|TP63_ENST00000354600.5_Missense_Mutation_p.R393C|TP63_ENST00000440651.2_Missense_Mutation_p.R483C|TP63_ENST00000392460.3_Missense_Mutation_p.R487C|TP63_ENST00000392461.3_Missense_Mutation_p.R393C|TP63_ENST00000320472.5_Missense_Mutation_p.R487C|TP63_ENST00000392463.2_Missense_Mutation_p.R393C	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	487					anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		CCCTCAGCAGCGCAACGCCCT	0.502										HNSCC(45;0.13)			T	189604292	C	T	189604292	3	4	608	1	0	0	0	0	1	0	0	0	16493	768	27	1	1666	1	TP63	3	189604292	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	131413726	189604292	8418138	14	50537											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68935722	68935722	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctcatctttttgctgtcaAtagctggaataagcaaaaca	13	13	6	9	0	3	0	2	0	1	0	4	1	4	1	1	1	4	3	1	1	6	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:68935722A>C	ENST00000356291.2	-	6	577	c.518T>G	c.(517-519)aTt>aGt	p.I173S	UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA|UBA6-AS1_ENST00000511571.1_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	173	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						TTTGCTGTCAATAGCTGGAAT	0.313													C	68935722	A	C	68935722	3	2	608	1	0	0	0	0	1	0	0	0	16343	101	4	5	818	5	TMPRSS11F	4	68935722	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		68935722	122218554	15	50538											
MMAA	166785	broad.mit.edu	37	chr4	146560298	146560298	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaaacgaatatgcccAtgctgctaccacatcctcac	15	8	4	14	1	1	0	1	0	0	0	2	1	2	0	3	0	5	2	3	0	6	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr4:146560298A>G	ENST00000281317.5	+	2	1217	c.7A>G	c.(7-9)Atg>Gtg	p.M3V	MMAA_ENST00000541599.1_5'UTR	NM_172250.2	NP_758454.1	Q8IVH4	MMAA_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblA type	3						mitochondrion	GTP binding|nucleoside-triphosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)	17	all_hematologic(180;0.151)				Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAATATGCCCATGCTGCTACC	0.423													G	146560298	A	G	146560298	3	3	608	1	0	0	0	0	1	0	0	0	9714	217	8	3	9	3	MMAA	4	146560298	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	77624576	146560298	44593978	16	50539											
SDHA	6389	broad.mit.edu	37	chr5	256470	256470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctggaatatagacccGtgatcgacaaaactttgaac	14	10	7	10	2	2	3	1	2	1	1	3	5	2	4	1	1	2	0	1	1	6	3	rs3211483		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:256470G>A	ENST00000264932.6	+	15	2045	c.1930G>A	c.(1930-1932)Gtg>Atg	p.V644M	SDHA_ENST00000507522.1_3'UTR|SDHA_ENST00000510361.1_Missense_Mutation_p.V596M|SDHA_ENST00000504309.1_Missense_Mutation_p.V563M	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	644					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	ATATAGACCCGTGATCGACAA	0.428									Familial Paragangliomas				A	256470	G	A	256470	3	1	608	1	0	0	0	0	1	0	0	0	14056	1145	40	1	1988	1	SDHA	5	256470	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		256470	180658790	17	50540											
CDH12	1010	broad.mit.edu	37	chr5	21752319	21752319	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttttttcttctgccttcGcagtgctacatacagtacaa	8	16	6	11	1	3	0	0	0	3	0	4	0	3	0	1	0	5	3	1	0	4	8			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:21752319G>A	ENST00000382254.1	-	15	2998	c.1912C>T	c.(1912-1914)Cga>Tga	p.R638*	CDH12_ENST00000504376.2_Nonsense_Mutation_p.R638*|CDH12_ENST00000521384.1_5'UTR|RP11-804N13.1_ENST00000522350.1_RNA|CDH12_ENST00000522262.1_Nonsense_Mutation_p.R598*	NM_004061.3	NP_004052.2	P55289	CAD12_HUMAN	cadherin 12, type 2 (N-cadherin 2)	638					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(19)|lung(75)|ovary(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	120						TTCTGCCTTCGCAGTGCTACA	0.398										HNSCC(59;0.17)			A	21752319	G	A	21752319	4	1	608	1	0	0	0	0	0	1	0	0	3128	1095	38	1	476	1	CDH12	5	21752319	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	21495849	21752319	159162941	18	50541											
MRPS27	23107	broad.mit.edu	37	chr5	71593520	71593520	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttttatccattaaagatGcaagatcagctgtgaagaca	15	12	8	6	0	1	4	1	1	0	3	2	4	2	4	1	0	2	3	1	0	5	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:71593520G>C	ENST00000261413.5	-	3	200	c.161C>G	c.(160-162)gCa>gGa	p.A54G	MRPS27_ENST00000513900.1_Missense_Mutation_p.A54G|MRPS27_ENST00000522095.1_Missense_Mutation_p.A54G|MRPS27_ENST00000515404.1_5'UTR|MRPS27_ENST00000457646.4_5'UTR	NM_015084.2	NP_055899.2	Q92552	RT27_HUMAN	mitochondrial ribosomal protein S27	54						mitochondrion|ribosome				breast(1)|endometrium(1)|large_intestine(2)|lung(2)	6		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-53)		CATTAAAGATGCAAGATCAGC	0.294													C	71593520	G	C	71593520	3	2	608	1	0	0	0	0	1	0	0	0	9914	1319	46	4	1119	4	MRPS27	5	71593520	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	49841201	71593520	109321740	19	50542											
PCDHA1	56147	broad.mit.edu	37	chr5	140167485	140167485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagttccaggtgagcgCgcgggatgcgggcgtgccgc	4	6	19	12	6	0	1	0	1	0	0	1	2	1	2	2	3	4	3	2	3	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140167485C>T	ENST00000504120.2	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000378133.3_Missense_Mutation_p.A537V	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGGGATGCG	0.677													T	140167485	C	T	140167485	3	4	608	1	0	0	0	0	1	0	0	0	11595	768	27	1	1612	1	PCDHA1	5	140167485	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	68573965	140167485	40747775	20	50543											
PCDHA2	56146	broad.mit.edu	37	chr5	140176511	140176511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtgctggtgaaggaccaCggcgaaccagcgttgacagc	9	6	14	12	4	0	2	0	2	0	0	1	4	0	3	2	3	4	2	2	3	2	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:140176511C>T	ENST00000526136.1	+	1	1962	c.1962C>T	c.(1960-1962)caC>caT	p.H654H	PCDHA2_ENST00000378132.1_Silent_p.H654H|PCDHA2_ENST00000520672.2_Silent_p.H654H|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAAGGACCACGGCGAACCAG	0.667													T	140176511	C	T	140176511	2	4	608	1	0	0	0	0	0	0	0	1	11600	535	19	1		1	PCDHA2	5	140176511	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	9026	140176511	40738749	21	50544											
STK32A	202374	broad.mit.edu	37	chr5	146657719	146657719	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttgaaattttgcgagccAttgggaaaggcagttttggg	10	13	13	5	1	0	1	0	1	0	0	0	3	0	2	1	3	2	2	1	3	2	6			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:146657719A>G	ENST00000397936.3	+	3	418	c.85A>G	c.(85-87)Att>Gtt	p.I29V	STK32A_ENST00000398523.3_Missense_Mutation_p.I29V|STK32A_ENST00000541094.1_Missense_Mutation_p.I29V|STK32A_ENST00000398521.3_Missense_Mutation_p.I29V	NM_001112724.1	NP_001106195.1	Q8WU08	ST32A_HUMAN	serine/threonine kinase 32A	29	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTTGCGAGCCATTGGGAAAGG	0.358													G	146657719	A	G	146657719	3	3	608	1	0	0	0	0	1	0	0	0	15393	217	8	3	91	3	STK32A	5	146657719	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	6481208	146657719	34257541	22	50545											
FAT2	2196	broad.mit.edu	37	chr5	150947117	150947117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccatcataggaagacctgTtgaagaggggggcatggttg	11	9	15	6	0	1	3	1	1	0	2	1	4	1	4	2	5	1	3	2	5	4	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:150947117T>C	ENST00000261800.5	-	1	1388	c.1376A>G	c.(1375-1377)aAc>aGc	p.N459S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	459	Cadherin 4.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGACCTGTTGAAGAGGGG	0.537													C	150947117	T	C	150947117	3	2	608	1	0	0	0	0	1	0	0	0	5739	1725	60	3	11765	3	FAT2	5	150947117	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	4289398	150947117	29968143	23	50546											
RUFY1	80230	broad.mit.edu	37	chr5	178996303	178996303	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtccatctctttcagCgagttctatgagcctgaggc	6	13	10	12	1	3	2	1	2	2	0	6	3	5	2	3	1	2	1	3	1	1	3	rs141995707		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr5:178996303C>T	ENST00000377001.2	+	5	705	c.705C>T	c.(703-705)agC>agT	p.S235S	RUFY1_ENST00000319449.4_Splice_Site_p.S235S|RUFY1_ENST00000437570.2_Splice_Site_p.S127S|RUFY1_ENST00000393438.2_Splice_Site_p.S127S			Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	235	RUN.				endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TCTCTTTCAGCGAGTTCTATG	0.527										HNSCC(44;0.11)			T	178996303	C	T	178996303	5	4	608	1	0	0	0	0	0	0	1	0	13829	782	27	1	723	1	RUFY1	5	178996303	Splice_Site	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	28049186	178996303	1918957	24	50547											
LRRC16A	55604	broad.mit.edu	37	chr6	25517626	25517626	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacaaggctttcaggatatAgctgttgctatggaaaagta	13	11	11	6	0	1	0	1	0	0	0	1	2	1	2	0	3	2	6	0	3	7	6			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:25517626A>G	ENST00000329474.6	+	22	2225	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	619					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						TTCAGGATATAGCTGTTGCTA	0.313													G	25517626	A	G	25517626	3	3	608	1	0	0	0	0	1	0	0	0	9041	410	15	3	1943	3	LRRC16A	6	25517626	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08		25517626	145597441	25	50548											
SLC17A5	26503	broad.mit.edu	37	chr6	74331529	74331529	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgattattttttcttacctCttgaacattgaaccttagga	11	18	5	7	0	2	3	0	3	2	0	2	4	2	4	2	1	3	0	2	1	5	8			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr6:74331529C>G	ENST00000355773.5	-	7	1244	c.976G>C	c.(976-978)Gag>Cag	p.E326Q	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	326					anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						TTTCTTACCTCTTGAACATTG	0.308													G	74331529	C	G	74331529	3	3	608	1	0	0	0	0	1	0	0	0	14514	922	32	4	531	4	SLC17A5	6	74331529	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	48813903	74331529	96783538	26	50549											
FAM188B	84182	broad.mit.edu	37	chr7	30898919	30898919	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctcaccctttctgccaTcctgtccaggtctacagagc	6	11	7	17	0	3	1	1	0	2	1	5	1	5	1	5	1	4	1	5	1	1	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:30898919T>C	ENST00000265299.6	+	13	1801	c.1724T>C	c.(1723-1725)aTc>aCc	p.I575T	INMT-FAM188B_ENST00000458257.1_3'UTR|AQP1_ENST00000509504.1_Missense_Mutation_p.I38T|AQP1_ENST00000434909.2_5'UTR	NM_032222.2	NP_115598.2	Q4G0A6	F188B_HUMAN	family with sequence similarity 188, member B	575										endometrium(1)|large_intestine(5)|lung(19)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						CTTTCTGCCATCCTGTCCAGG	0.567													C	30898919	T	C	30898919	3	2	608	1	0	0	0	0	1	0	0	0	5561	1435	50	3	1774	3	FAM188B	7	30898919	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		30898919	128239744	27	50550											
ZAN	7455	broad.mit.edu	37	chr7	100363082	100363082	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcagaccggtgcgtggagGcctgtgaatgcaatccgggc	7	7	16	11	3	1	2	1	1	0	1	2	3	2	3	3	4	2	2	3	4	2	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:100363082G>T	ENST00000542585.1	+	0	4523				ZAN_ENST00000348028.3_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GTGCGTGGAGGCCTGTGAATG	0.612													T	100363082	G	T	100363082	1	4	608	0	1	0	0	0	0	0	0	0	17615	1203	42	4		4	ZAN	7	100363082	RNA	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	69464163	100363082	58775581	28	50551											
NOS3	4846	broad.mit.edu	37	chr7	150704000	150704000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttataagatccgcttcaacaGcatctcctgctcagacccac	11	10	5	15	1	3	2	2	0	1	2	5	2	4	2	3	0	3	3	3	0	3	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr7:150704000G>A	ENST00000297494.3	+	16	2201	c.1844G>A	c.(1843-1845)aGc>aAc	p.S615N	NOS3_ENST00000461406.1_Missense_Mutation_p.S409N	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	nitric oxide synthase 3 (endothelial cell)	615	Flavodoxin-like.				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)	CGCTTCAACAGCATCTCCTGC	0.607													A	150704000	G	A	150704000	3	1	608	1	0	0	0	0	1	0	0	0	10620	971	34	2	2184	2	NOS3	7	150704000	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	50340918	150704000	8434663	29	50552											
TG	7038	broad.mit.edu	37	chr8	134145854	134145854	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcgacagggcctgaagaaagCcgactgctccttctggtcca	9	8	11	13	2	1	2	0	1	1	1	4	4	3	2	4	2	2	1	4	2	2	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134145854C>G	ENST00000220616.4	+	47	8178	c.8138C>G	c.(8137-8139)gCc>gGc	p.A2713G	TG_ENST00000542445.1_Missense_Mutation_p.A1083G|TG_ENST00000519543.1_Missense_Mutation_p.A846G|TG_ENST00000377869.1_Missense_Mutation_p.A2656G	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	2713					hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CTGAAGAAAGCCGACTGCTCC	0.547													G	134145854	C	G	134145854	3	3	608	1	0	0	0	0	1	0	0	0	15913	739	26	4	8324	4	TG	8	134145854	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		134145854	12218168	30	50553											
ST3GAL1	6482	broad.mit.edu	37	chr8	134488257	134488257	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcagggtcctcttccgcAgggtcaccatcttcgcagtc	5	12	9	15	2	4	0	2	0	2	0	8	0	6	0	3	2	0	2	3	2	0	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr8:134488257A>G	ENST00000319914.5	-	4	1038	c.11T>C	c.(10-12)cTg>cCg	p.L4P	ST3GAL1_ENST00000521180.1_Missense_Mutation_p.L4P|ST3GAL1_ENST00000399640.2_Missense_Mutation_p.L4P|ST3GAL1_ENST00000522652.1_Missense_Mutation_p.L4P			Q11201	SIA4A_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 1	4					protein glycosylation	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(3)|large_intestine(2)|lung(11)|prostate(1)	17	all_epithelial(106;1.53e-23)|Lung NSC(106;3.15e-07)|all_lung(105;1.26e-06)|Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.00721)			CCTCTTCCGCAGGGTCACCAT	0.552													G	134488257	A	G	134488257	3	3	608	1	0	0	0	0	1	0	0	0	15310	188	7	3	1035	3	ST3GAL1	8	134488257	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	342403	134488257	11875765	31	50554											
GBA2	57704	broad.mit.edu	37	chr9	35741041	35741041	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacatcccacacaaagacTcctacaggcaggctgctgtc	11	7	7	16	0	0	1	0	0	0	1	4	1	3	1	3	2	2	3	3	2	2	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:35741041T>C	ENST00000378094.4	-	5	1320	c.807A>G	c.(805-807)ggA>ggG	p.G269G	GBA2_ENST00000378103.3_Silent_p.G269G|GBA2_ENST00000545786.1_Silent_p.G275G|GBA2_ENST00000467252.1_5'UTR			Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	269					bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACACAAAGACTCCTACAGGCA	0.567													C	35741041	T	C	35741041	2	2	608	1	0	0	0	0	0	0	0	1	6321	1538	54	3		3	GBA2	9	35741041	Silent	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		35741041	105472390	32	50555											
TTF1	7270	broad.mit.edu	37	chr9	135275446	135275446	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctttaaattccttaaaccGttccaagtcgtcccggtaca	10	13	6	12	3	0	0	0	0	0	0	4	0	3	0	4	1	3	3	4	1	6	6			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr9:135275446G>A	ENST00000334270.2	-	3	1606	c.1567C>T	c.(1567-1569)Cgg>Tgg	p.R523W		NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	523					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		TCCTTAAACCGTTCCAAGTCG	0.468													A	135275446	G	A	135275446	3	1	608	1	0	0	0	0	1	0	0	0	16820	1144	40	1	1186	1	TTF1	9	135275446	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	99534405	135275446	5937985	33	50556											
HNRNPF	3185	broad.mit.edu	37	chr10	43882166	43882166	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactggctctccaggccactGtaagtggcctgggcagcaga	8	7	14	12	0	1	1	0	0	1	1	2	2	1	1	3	4	1	4	3	4	1	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:43882166G>A	ENST00000443950.2	-	3	1653	c.1167C>T	c.(1165-1167)taC>taT	p.Y389Y	HNRNPF_ENST00000544000.1_Silent_p.Y389Y|HNRNPF_ENST00000356053.3_Silent_p.Y389Y|HNRNPF_ENST00000337970.3_Silent_p.Y389Y|HNRNPF_ENST00000357065.4_Silent_p.Y389Y	NM_001098208.1	NP_001091678.1	P52597	HNRPF_HUMAN	heterogeneous nuclear ribonucleoprotein F	389					regulation of RNA splicing	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding	p.Y389Y(4)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|urinary_tract(1)	19						CCAGGCCACTGTAAGTGGCCT	0.537													A	43882166	G	A	43882166	2	1	608	1	0	0	0	0	0	0	0	1	7320	1372	48	2		2	HNRNPF	10	43882166	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		43882166	91652581	34	50557											
PAX2	5076	broad.mit.edu	37	chr10	102541110	102541110	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaatggtgagaagaggAaacgtgatgaaggtagggag	14	6	17	4	1	0	4	0	3	0	2	1	7	1	6	1	4	1	2	1	4	5	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:102541110A>G	ENST00000370296.2	+	5	1154	c.604A>G	c.(604-606)Aaa>Gaa	p.K202E	PAX2_ENST00000355243.3_Missense_Mutation_p.K202E|PAX2_ENST00000428433.1_Missense_Mutation_p.K202E|PAX2_ENST00000556085.1_Missense_Mutation_p.K201E|PAX2_ENST00000361791.3_Missense_Mutation_p.K202E|PAX2_ENST00000553492.1_3'UTR			Q02962	PAX2_HUMAN	paired box 2	202					anti-apoptosis|axonogenesis|brain morphogenesis|branching involved in ureteric bud morphogenesis|cell fate determination|cellular response to glucose stimulus|cellular response to hydrogen peroxide|cellular response to retinoic acid|cochlea development|glial cell differentiation|inner ear morphogenesis|mesenchymal to epithelial transition involved in metanephros morphogenesis|mesodermal cell fate specification|mesonephros development|metanephric collecting duct development|metanephric distal convoluted tubule development|metanephric mesenchymal cell differentiation|metanephric nephron tubule formation|negative regulation of caspase activity|negative regulation of cytolysis|negative regulation of mesenchymal stem cell apoptosis involved in metanephric nephron morphogenesis|negative regulation of reactive oxygen species metabolic process|negative regulation of transcription, DNA-dependent|nephric duct formation|neural tube closure|optic chiasma development|optic cup morphogenesis involved in camera-type eye development|optic nerve structural organization|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of epithelial cell proliferation|positive regulation of mesenchymal to epithelial transition involved in metanephros morphogenesis|positive regulation of metanephric DCT cell differentiation|positive regulation of metanephric glomerulus development|positive regulation of optic nerve formation|positive regulation of transcription from RNA polymerase II promoter|pronephric field specification|protein kinase B signaling cascade|reactive oxygen species metabolic process|regulation of metanephric nephron tubule epithelial cell differentiation|regulation of metanephros size|retinal pigment epithelium development|stem cell differentiation|transcription from RNA polymerase II promoter|ureter maturation|vestibulocochlear nerve formation|visual perception	centriolar satellite|nucleus|protein complex|protein-DNA complex	core promoter proximal region sequence-specific DNA binding|superoxide-generating NADPH oxidase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;1.32e-08)|all cancers(201;7.32e-07)		TGAGAAGAGGAAACGTGATGA	0.587													G	102541110	A	G	102541110	3	3	608	1	0	0	0	0	1	0	0	0	11555	247	9	3	622	3	PAX2	10	102541110	Missense_Mutation	SNP	A	TCGA-HT-A61B-01A-11D-A29Q-08	58658944	102541110	32993637	35	50558											
PWWP2B	170394	broad.mit.edu	37	chr10	134219372	134219372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggcgcgtcagcgccctcGgtgtccagagaggctcgcca	6	5	14	16	6	1	1	1	0	0	1	4	2	2	1	3	3	1	1	3	3	0	0			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr10:134219372G>A	ENST00000305233.5	+	2	1427	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	PWWP2B_ENST00000368609.4_Silent_p.S456S	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	456										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CAGCGCCCTCGGTGTCCAGAG	0.701													A	134219372	G	A	134219372	2	1	608	1	0	0	0	0	0	0	0	1	12934	1103	39	1		1	PWWP2B	10	134219372	Silent	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	31678262	134219372	1315375	36	50559											
OR51Q1	390061	broad.mit.edu	37	chr11	5444223	5444223	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggtgtatctatgactcatCgctttgccaagcatgcctct	7	15	8	11	1	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	3	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:5444223C>T	ENST00000300778.4	+	1	883	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron	NM_001004757.2	NP_001004757.1	Q8NH59	O51Q1_HUMAN	olfactory receptor, family 51, subfamily Q, member 1 (gene/pseudogene)	265					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(3)|liver(2)|lung(21)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	37		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.18e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATGACTCATCGCTTTGCCAA	0.517													T	5444223	C	T	5444223	3	4	608	1	0	0	0	0	1	0	0	0	11180	884	31	1	795	1	OR51Q1	11	5444223	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		5444223	129562293	37	50560											
FLRT1	23769	broad.mit.edu	37	chr11	63884997	63884997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggccaaaaggccagggctgCgcctccccgactccaacatt	10	5	10	16	2	0	0	0	0	0	0	2	1	2	0	6	3	2	1	6	3	3	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr11:63884997C>T	ENST00000246841.3	+	2	2301	c.1258C>T	c.(1258-1260)Cgc>Tgc	p.R420C	MACROD1_ENST00000255681.6_Intron	NM_013280.4	NP_037412.2	Q9NZU1	FLRT1_HUMAN	fibronectin leucine rich transmembrane protein 1	392	Fibronectin type-III.				cell adhesion	integral to plasma membrane|proteinaceous extracellular matrix	protein binding, bridging|receptor signaling protein activity			breast(1)|endometrium(3)|large_intestine(6)|lung(2)|prostate(1)|urinary_tract(1)	14						GCCAGGGCTGCGCCTCCCCGA	0.652													T	63884997	C	T	63884997	3	4	608	1	0	0	0	0	1	0	0	0	5987	768	27	1	1260	1	FLRT1	11	63884997	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58440774	63884997	71121519	38	50561											
STK38L	23012	broad.mit.edu	37	chr12	27467498	27467498	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagaggaaacacagttctaCatttcagagactgttctggc	13	10	10	8	0	3	2	1	0	2	2	3	5	3	3	0	2	2	2	0	2	3	4			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:27467498C>T	ENST00000389032.3	+	7	748	c.579C>T	c.(577-579)taC>taT	p.Y193Y	STK38L_ENST00000539577.1_Silent_p.Y100Y	NM_015000.3	NP_055815.1	Q9Y2H1	ST38L_HUMAN	serine/threonine kinase 38 like	193	Protein kinase.				intracellular protein kinase cascade|regulation of cellular component organization	actin cytoskeleton|cytoplasm	actin binding|ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)	12	Colorectal(261;0.0847)					CACAGTTCTACATTTCAGAGA	0.383													T	27467498	C	T	27467498	2	4	608	1	0	0	0	0	0	0	0	1	15400	489	17	2		2	STK38L	12	27467498	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		27467498	106384397	39	50562											
TMEM132B	114795	broad.mit.edu	37	chr12	126135302	126135302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccctgcagtaccagcacGccacagtgcgtgtcctcacc	7	7	9	18	2	1	0	1	0	0	0	3	0	3	0	5	0	4	4	5	0	1	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr12:126135302G>A	ENST00000299308.3	+	7	1710	c.1702G>A	c.(1702-1704)Gcc>Acc	p.A568T	TMEM132B_ENST00000535886.1_Missense_Mutation_p.A80T	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	568						integral to membrane				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		GTACCAGCACGCCACAGTGCG	0.587													A	126135302	G	A	126135302	3	1	608	1	0	0	0	0	1	0	0	0	16146	1087	38	1	1728	1	TMEM132B	12	126135302	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	98667804	126135302	7716593	40	50563											
EAPP	55837	broad.mit.edu	37	chr14	35008834	35008834	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatccggaagccggttcaTggtggcctgcagcggcctac	6	8	14	13	3	2	0	2	0	0	0	3	1	3	1	4	5	4	2	4	5	2	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:35008834T>C	ENST00000250454.3	-	1	82	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_018453.3	NP_060923.2	Q56P03	EAPP_HUMAN	E2F-associated phosphoprotein	1					negative regulation of transcription elongation from RNA polymerase II promoter|positive regulation of cell proliferation|positive regulation of transcription elongation from RNA polymerase II promoter	Golgi apparatus|nucleus|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	12	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00342)|Epithelial(34;0.18)	GBM - Glioblastoma multiforme(112;0.0196)		AGCCGGTTCATGGTGGCCTGC	0.637													C	35008834	T	C	35008834	1	2	608	1	0	0	0	0	0	0	0	0	4916	1464	51	3		3	EAPP	14	35008834	Translation_Start_Site	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		35008834	72340706	41	50564											
INF2	64423	broad.mit.edu	37	chr14	105174270	105174271	+	Frame_Shift_Ins	INS	-	-	G																															atgggtccccagccatcggcINSgggtgaacccacccacactg																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr14:105174270_105174271insG	ENST00000392634.4	+	8	1778_1779	c.1666_1667insG	c.(1666-1668)cggfs	p.R556fs	INF2_ENST00000330634.7_Frame_Shift_Ins_p.R556fs	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	556	FH2.				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding			large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		CAGCCATCGGCGGGTGAACCCA	0.663													G	105174271	-	G	105174270	7	5	608	1	0	1	1	0	0	0	0	0	7792	759	27	0	1696	0	INF2	14	105174270	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08	70165436	105174270	2175270	42	50565											
GSPT1	2935	broad.mit.edu	37	chr16	11981588	11981589	+	Frame_Shift_Ins	INS	-	-	T																															cgttcttcctgatttgtgtcINStaaggcccaagacaagtacc																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:11981588_11981589insT	ENST00000434724.2	-	7	994_995	c.795_796insA	c.(793-798)ttagacfs	p.D266fs	GSPT1_ENST00000439887.2_Frame_Shift_Ins_p.D265fs|RP11-166B2.8_ENST00000574364.1_RNA|GSPT1_ENST00000563468.1_Frame_Shift_Ins_p.D128fs|GSPT1_ENST00000420576.2_Frame_Shift_Ins_p.D128fs	NM_001130006.1|NM_002094.3	NP_001123478.1|NP_002085	P15170	ERF3A_HUMAN	G1 to S phase transition 1	128					G1/S transition of mitotic cell cycle|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|protein methylation	intracellular	GTP binding|GTPase activity|protein binding|translation release factor activity			breast(1)|central_nervous_system(1)|kidney(4)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	14						TGATTTGTGTCTAAGGCCCAAG	0.356													T	11981589	-	T	11981588	7	5	608	1	0	1	1	0	0	0	0	0	6881	913	32	0	1153	0	GSPT1	16	11981588	Frame_Shift_Ins	INS	-	TCGA-HT-A61B-01A-11D-A29Q-08		11981588	78373165	43	50566											
SRCAP	10847	broad.mit.edu	37	chr16	30736149	30736149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctaccctgggcccggccGcagctcagaccttggcgctg	4	8	12	17	3	1	1	1	0	0	1	2	1	2	1	5	3	2	3	5	3	1	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:30736149G>A	ENST00000262518.4	+	25	5789	c.5404G>A	c.(5404-5406)Gca>Aca	p.A1802T	SRCAP_ENST00000344771.4_Missense_Mutation_p.A1644T|SRCAP_ENST00000395059.2_Missense_Mutation_p.A1740T	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1802	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			gggcccggccgcagctcagac	0.637													A	30736149	G	A	30736149	3	1	608	1	0	0	0	0	1	0	0	0	15231	1087	38	1	5494	1	SRCAP	16	30736149	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	18754561	30736149	59618604	44	50567											
SPG7	6687	broad.mit.edu	37	chr16	89620236	89620236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgaggaaggtcacccgcatCgcctactccatggtgaagca	10	7	11	13	2	1	2	1	2	0	0	3	3	2	3	3	3	2	2	3	3	3	1	rs140356355		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr16:89620236C>T	ENST00000268704.2	+	15	1986	c.1971C>T	c.(1969-1971)atC>atT	p.I657I		NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	657					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TCACCCGCATCGCCTACTCCA	0.677													T	89620236	C	T	89620236	2	4	608	1	0	0	0	0	0	0	0	1	15140	874	31	1		1	SPG7	16	89620236	Silent	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	58884087	89620236	734517	45	50568											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	608	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08		7578190	73617020	46	50569											
ELP2	55250	broad.mit.edu	37	chr18	33738840	33738840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagccactgtccctgcattgGgattatcaaataaagctgtc	11	11	9	10	0	1	0	1	0	0	0	3	2	2	1	2	1	3	2	2	1	4	3			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr18:33738840G>T	ENST00000358232.6	+	14	1570	c.1507G>T	c.(1507-1509)Gga>Tga	p.G503*	ELP2_ENST00000351393.6_Nonsense_Mutation_p.G477*|ELP2_ENST00000423854.2_Nonsense_Mutation_p.G433*|ELP2_ENST00000542050.1_3'UTR|ELP2_ENST00000350494.6_Nonsense_Mutation_p.G498*|ELP2_ENST00000542824.1_Nonsense_Mutation_p.G433*|ELP2_ENST00000442325.2_Nonsense_Mutation_p.G568*	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	503					regulation of transcription from RNA polymerase II promoter	Golgi apparatus|transcription elongation factor complex				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CCCTGCATTGGGATTATCAAA	0.333													T	33738840	G	T	33738840	4	4	608	1	0	0	0	0	0	1	0	0	5121	1233	43	4	1561	4	ELP2	18	33738840	Nonsense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08		33738840	44338408	47	50570											
ZNF560	147741	broad.mit.edu	37	chr19	9577986	9577986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctttaccacatttcttaCattgatagagtctctcttct	10	17	4	10	0	4	2	0	1	4	1	5	2	4	2	1	0	3	1	1	0	4	7			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:9577986C>T	ENST00000301480.4	-	10	1850	c.1637G>A	c.(1636-1638)tGt>tAt	p.C546Y		NM_152476.2	NP_689689.2	Q96MR9	ZN560_HUMAN	zinc finger protein 560	546					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(16)|liver(2)|lung(24)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	65						ACATTTCTTACATTGATAGAG	0.398													T	9577986	C	T	9577986	3	4	608	1	0	0	0	0	1	0	0	0	18092	478	17	2	739	2	ZNF560	19	9577986	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08		9577986	49550997	48	50571											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10220614	10220614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaagttgttcctgtgggcGcgagtcgcgggatgaagaag	9	9	16	7	4	1	2	1	1	0	1	3	4	2	3	1	2	0	2	1	2	3	2	rs149200523	byFrequency	TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:10220614G>A	ENST00000428358.1	+	7	788	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	PPAN_ENST00000393793.1_Missense_Mutation_p.A153T|PPAN_ENST00000253107.7_Missense_Mutation_p.A206T|PPAN_ENST00000556468.1_Missense_Mutation_p.A206T|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.A206T	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		206	Brix.				RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TCCTGTGGGCGCGAGTCGCGG	0.627													A	10220614	G	A	10220614	3	1	608	1	0	0	0	0	1	0	0	0	12366	1087	38	1	642	1	PPAN-P2RY11	19	10220614	Missense_Mutation	SNP	G	TCGA-HT-A61B-01A-11D-A29Q-08	642628	10220614	48908369	49	50572											
IL12RB1	3594	broad.mit.edu	37	chr19	18184406	18184406	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacctgaggctgtggggggTtttctgcaatcagaaccaaa	10	10	12	9	0	3	2	2	1	1	1	3	2	3	2	2	4	2	3	2	4	3	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:18184406T>G	ENST00000600835.2	-	9	1002	c.704A>C	c.(703-705)aAc>aCc	p.N235T	IL12RB1_ENST00000593993.2_Missense_Mutation_p.N235T|IL12RB1_ENST00000322153.7_Missense_Mutation_p.N235T			P42701	I12R1_HUMAN	interleukin 12 receptor, beta 1		Fibronectin type-III 2.				cellular response to interferon-gamma|interleukin-12-mediated signaling pathway|positive regulation of activated T cell proliferation|positive regulation of defense response to virus by host|positive regulation of interferon-gamma production|positive regulation of memory T cell differentiation|positive regulation of T cell mediated cytotoxicity|positive regulation of T-helper 1 type immune response|positive regulation of T-helper 17 cell lineage commitment|positive regulation of T-helper 17 type immune response	interleukin-12 receptor complex|interleukin-23 receptor complex	cytokine receptor activity			endometrium(1)|kidney(1)|lung(3)|pancreas(1)|skin(2)	8						CTGTGGGGGGTTTTCTGCAAT	0.512													G	18184406	T	G	18184406	3	3	608	1	0	0	0	0	1	0	0	0	7684	1725	60	5	1453	5	IL12RB1	19	18184406	Missense_Mutation	SNP	T	TCGA-HT-A61B-01A-11D-A29Q-08	7963792	18184406	40944577	50	50573											
ATP4A	495	broad.mit.edu	37	chr19	36049963	36049963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagatgggacacagtcatgCggttctgagtgagagtccct	10	9	13	9	1	2	3	1	2	1	2	3	5	3	4	1	2	1	1	1	2	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:36049963C>T	ENST00000262623.3	-	8	1215	c.1187G>A	c.(1186-1188)cGc>cAc	p.R396H		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	396					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	CACAGTCATGCGGTTCTGAGT	0.592													T	36049963	C	T	36049963	3	4	608	1	0	0	0	0	1	0	0	0	1150	768	27	1	1980	1	ATP4A	19	36049963	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	17865557	36049963	23079020	51	50574											
KIR2DL3	3804	broad.mit.edu	37	chr19	55255285	55255285	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcccagccgggccccaCggttctggcaggagagagcg	7	4	15	15	3	2	1	1	0	1	1	2	3	2	2	4	4	3	2	4	4	0	1			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chr19:55255285C>T	ENST00000342376.3	+	4	444	c.413C>T	c.(412-414)aCg>aTg	p.T138M	KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000541392.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL3_ENST00000434419.2_Missense_Mutation_p.T138M|KIR2DL4_ENST00000396284.2_Intron	NM_015868.2	NP_056952.2			killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 3											breast(1)|cervix(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CCGGGCCCCACGGTTCTGGCA	0.567													T	55255285	C	T	55255285	3	4	608	1	0	0	0	0	1	0	0	0	8375	536	19	1	427	1	KIR2DL3	19	55255285	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	19205322	55255285	3873698	52	50575											
AMMECR1	9949	broad.mit.edu	37	chrX	109561058	109561060	+	In_Frame_Del	DEL	CCG	CCG	-																															gtggcgacagggcgatccccCcgccgccgccgccgcagccc																										TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:109561058_109561060delCCG	ENST00000262844.5	-	1	407_409	c.240_242delCGG	c.(238-243)ggcggg>ggg	p.80_81GG>G	AMMECR1_ENST00000372059.2_In_Frame_Del_p.80_81GG>G|AMMECR1_ENST00000372057.1_5'UTR	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	80	Gly/Ser-rich.									large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GGCGATCCCCCCGCCGCCGCCGC	0.734													-	109561060	CCG	-	109561058	7	5	608	1	0	1	0	1	0	0	0	0	578	623	22	0	783	0	AMMECR1	23	109561058	In_Frame_Del	DEL	CCG	TCGA-HT-A61B-01A-11D-A29Q-08		109561058	45709502	53	50576											
CUL4B	8450	broad.mit.edu	37	chrX	119694140	119694140	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggaggaggaggattcCtcagccatcttcgcatcaaa	12	7	13	9	1	3	0	2	0	1	0	5	6	4	5	2	5	1	1	2	5	1	2			TCGA-HT-A61B-01A-11D-A29Q-08	TCGA-HT-A61B-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97a07589-3dd1-4724-8458-343a8b54d8db	b32d8211-d6fb-4fbd-9727-536b1e77a69d	g.chrX:119694140C>G	ENST00000371322.5	-	1	415	c.354G>C	c.(352-354)gaG>gaC	p.E118D	CUL4B_ENST00000404115.3_Missense_Mutation_p.E136D|CUL4B_ENST00000336592.6_Missense_Mutation_p.E123D	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	136	Ser-rich.				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						aggaggaTTCCTCAGCCATCT	0.488													G	119694140	C	G	119694140	3	3	608	1	0	0	0	0	1	0	0	0	4091	680	24	4	2413	4	CUL4B	23	119694140	Missense_Mutation	SNP	C	TCGA-HT-A61B-01A-11D-A29Q-08	10133082	119694140	35576420	54	50577											
IGFN1	91156	broad.mit.edu	37	chr1	201186507	201186507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctcggggccccggcagcGcccacatcctgggctacctg	5	5	12	19	3	0	0	0	0	0	0	2	0	1	0	6	4	2	2	6	4	1	1	rs146376343		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:201186507G>A	ENST00000335211.4	+	17	9818	c.9688G>A	c.(9688-9690)Gcc>Acc	p.A3230T	IGFN1_ENST00000295591.8_Missense_Mutation_p.A390T	NM_001164586.1	NP_001158058.1			immunoglobulin-like and fibronectin type III domain containing 1											autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCAGCGCCCACATCCT	0.662													A	201186507	G	A	201186507	3	1	609	1	0	0	0	0	1	0	0	0	7648	1087	38	1	9750	1	IGFN1	1	201186507	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		201186507	48064114	1	50578											
CR2	1380	broad.mit.edu	37	chr1	207640156	207640156	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacatggtgattctgtgaCatttgcctgtaaaaccaact	12	12	8	9	0	1	3	0	2	1	1	1	3	1	3	2	1	3	1	2	1	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:207640156C>T	ENST00000367057.3	+	2	533	c.344C>T	c.(343-345)aCa>aTa	p.T115I	CR2_ENST00000458541.2_Missense_Mutation_p.T115I|CR2_ENST00000367058.3_Missense_Mutation_p.T115I|CR2_ENST00000367059.3_Missense_Mutation_p.T115I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	115	Sushi 2.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATTCTGTGACATTTGCCTGT	0.423													T	207640156	C	T	207640156	3	4	609	1	0	0	0	0	1	0	0	0	3873	478	17	2	350	2	CR2	1	207640156	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	6453649	207640156	41610465	2	50579											
EXOC8	149371	broad.mit.edu	37	chr1	231472849	231472851	+	In_Frame_Del	DEL	CCA	CCA	-																															ccgctgaggcagccaggtagCcaccaacaagcaatcgttca																								rs142526535		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:231472849_231472851delCCA	ENST00000366645.1	-	1	747_749	c.629_631delTGG	c.(628-633)gtggct>gct	p.V210del	SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_In_Frame_Del_p.V214del			Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	214	PH.				exocytosis|protein transport	growth cone|nucleus	protein binding			cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCAGGTAGCCACCAACAAGCA	0.547													-	231472851	CCA	-	231472849	7	5	609	1	0	1	0	1	0	0	0	0	5352	739	26	0	1538	0	EXOC8	1	231472849	In_Frame_Del	DEL	CCA	TCGA-HT-A61C-01A-11D-A29Q-08	23832693	231472849	17777772	3	50580											
HEATR5B	54497	broad.mit.edu	37	chr2	37289163	37289163	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctattttgggcagcagttcGtaaaagatcttcagcaatac	12	12	9	8	1	2	1	1	0	1	1	3	1	2	1	0	1	3	6	0	1	5	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:37289163G>A	ENST00000233099.5	-	11	1710	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R539*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	539							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGCAGTTCGTAAAAGATCT	0.348													A	37289163	G	A	37289163	4	1	609	1	0	0	0	0	0	1	0	0	7087	1153	40	1	4704	1	HEATR5B	2	37289163	Nonsense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		37289163	205910210	4	50581											
SPRED2	200734	broad.mit.edu	37	chr2	65541089	65541089	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaagtctgaggagtccacgTaggggtagttgtagtcatgc	10	10	14	7	1	2	1	1	1	1	0	3	2	3	2	1	3	1	4	1	3	4	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:65541089T>G	ENST00000356388.4	-	6	992	c.803A>C	c.(802-804)tAc>tCc	p.Y268S	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y265S	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	268					inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCCACGTAGGGGTAGTT	0.677													G	65541089	T	G	65541089	3	3	609	1	0	0	0	0	1	0	0	0	15189	1638	57	5	457	5	SPRED2	2	65541089	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	28251926	65541089	177658284	5	50582											
MYO7B	4648	broad.mit.edu	37	chr2	128384765	128384765	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctggccaggcccccGcctgcccaagacgcagctga	6	6	10	19	2	1	2	0	1	1	1	3	2	2	2	6	2	2	2	6	2	1	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:128384765G>A	ENST00000389524.4	+	32	4315	c.4262G>A	c.(4261-4263)cGc>cAc	p.R1421H	MYO7B_ENST00000428314.1_Missense_Mutation_p.R1421H|MYO7B_ENST00000409816.2_Missense_Mutation_p.R1421H|MYO7B_ENST00000409090.1_Missense_Mutation_p.R274H			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1421	FERM 1.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGCCCCCGCCTGCCCAAG	0.617													A	128384765	G	A	128384765	3	1	609	1	0	0	0	0	1	0	0	0	10159	1087	38	1	4384	1	MYO7B	2	128384765	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	62843676	128384765	114814608	6	50583											
TTN	7273	broad.mit.edu	37	chr2	179468882	179468882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcattgatcctttggtgcGtgccaaaacttttggttttc	7	17	9	8	1	0	1	0	1	0	0	2	1	1	1	2	2	4	2	2	2	3	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:179468882G>A	ENST00000589042.1	-	282	54756	c.54532C>T	c.(54532-54534)Cgc>Tgc	p.R18178C	TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16537C|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16537	Ig-like 105.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGGTGCGTGCCAAAACT	0.453													A	179468882	G	A	179468882	3	1	609	1	0	0	0	0	1	0	0	0	16837	1145	40	1	53485	1	TTN	2	179468882	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	51084117	179468882	63730491	7	50584											
COL3A1	1281	broad.mit.edu	37	chr2	189873767	189873767	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggtgaaaaagctggcGgttttgccccgtattatgga	9	12	14	6	2	0	1	0	1	0	0	0	3	0	3	2	5	2	3	2	5	4	5			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:189873767G>A	ENST00000304636.3	+	48	3813	c.3643G>A	c.(3643-3645)Ggt>Agt	p.G1215S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G912S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1215					axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	AAAAGCTGGCGGTTTTGCCCC	0.507													A	189873767	G	A	189873767	3	1	609	1	0	0	0	0	1	0	0	0	3719	1116	39	1	3833	1	COL3A1	2	189873767	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	10404885	189873767	53325606	8	50585											
NAB1	4664	broad.mit.edu	37	chr2	191537858	191537858	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagaaagagatgaattatccCcaaagagaattaaagtggag	19	7	11	4	0	0	4	0	1	0	3	1	8	1	5	2	1	0	0	2	1	7	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:191537858C>G	ENST00000337386.5	+	6	1446	c.985C>G	c.(985-987)Cca>Gca	p.P329A	NAB1_ENST00000409641.1_Missense_Mutation_p.P329A|NAB1_ENST00000484774.1_Intron|NAB1_ENST00000545490.1_Missense_Mutation_p.P99A|NAB1_ENST00000357215.5_Missense_Mutation_p.P329A|NAB1_ENST00000409581.1_Missense_Mutation_p.P329A	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	329	Necessary for nuclear localization (By similarity).				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGAATTATCCCCAAAGAGAAT	0.318													G	191537858	C	G	191537858	3	3	609	1	0	0	0	0	1	0	0	0	10207	623	22	4	995	4	NAB1	2	191537858	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	1664091	191537858	51661515	9	50586											
TRANK1	9881	broad.mit.edu	37	chr3	36875111	36875111	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcagacatgaggccTggaagtccttgtcggcagtg	8	7	13	13	1	0	2	0	1	0	1	2	3	1	3	4	3	1	2	4	3	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:36875111T>C	ENST00000301807.6	-	21	6078	c.4181A>G	c.(4180-4182)cAg>cGg	p.Q1394R	TRANK1_ENST00000429976.2_Missense_Mutation_p.Q1944R|TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1394R			O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1944					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATGAGGCCTGGAAGTCCTT	0.572													C	36875111	T	C	36875111	3	2	609	1	0	0	0	0	1	0	0	0	16555	1580	55	3	2958	3	TRANK1	3	36875111	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08		36875111	161147319	10	50587											
KCNMB2	10242	broad.mit.edu	37	chr3	178543531	178543531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctgggaatcacactcctgcGctcatacatgcagaggtaat	11	9	10	11	1	2	1	2	0	0	1	3	2	3	2	1	2	3	4	1	2	3	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:178543531G>A	ENST00000432997.1	+	3	564	c.212G>A	c.(211-213)cGc>cAc	p.R71H	KCNMB2_ENST00000358316.3_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000425330.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000432385.1_RNA|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	NM_001278911.1	NP_001265840.1	Q9Y691	KCMB2_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	71					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)			ACACTCCTGCGCTCATACATG	0.532													A	178543531	G	A	178543531	3	1	609	1	0	0	0	0	1	0	0	0	8133	1087	38	1	218	1	KCNMB2	3	178543531	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	141668420	178543531	19478899	11	50588											
SLIT2	9353	broad.mit.edu	37	chr4	20525656	20525659	+	Frame_Shift_Del	DEL	TTTA	TTTA	-																															ggcatttggcccagaaccccTttatttgtgactgccatctc																										TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:20525656_20525659delTTTA	ENST00000504154.1	+	14	1546_1549	c.1294_1297delTTTA	c.(1294-1299)tttattfs	p.FI432fs	SLIT2_ENST00000503823.1_Frame_Shift_Del_p.FI432fs|SLIT2_ENST00000503837.1_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.FI436fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	432	LRRCT 2.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAGAACCCCTTTATTTGTGACTG	0.485													-	20525659	TTTA	-	20525656	7	5	609	1	0	1	0	1	0	0	0	0	14834	1609	56	0	1348	0	SLIT2	4	20525656	Frame_Shift_Del	DEL	TTTA	TCGA-HT-A61C-01A-11D-A29Q-08		20525656	170628620	12	50589											
RFC1	5981	broad.mit.edu	37	chr4	39325012	39325014	+	In_Frame_Del	DEL	TCA	TCA	-																															ctaatgttctggcaaactctTcatcttcatgcaactgcctc																										TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:39325012_39325014delTCA	ENST00000381897.1	-	7	799_801	c.666_668delTGA	c.(664-669)gatgaa>gaa	p.D222del	RFC1_ENST00000418436.1_5'UTR|RFC1_ENST00000349703.2_In_Frame_Del_p.D222del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	222					DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCAAACTCTTCATCTTCATGCA	0.379													-	39325014	TCA	-	39325012	7	5	609	1	0	1	0	1	0	0	0	0	13332	1783	62	0	2851	0	RFC1	4	39325012	In_Frame_Del	DEL	TCA	TCGA-HT-A61C-01A-11D-A29Q-08	18799356	39325012	151829264	13	50590											
UGT2B11	10720	broad.mit.edu	37	chr4	70070287	70070287	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaaaacaatggaatgcccaCcatagggatcccatggtaga	17	6	9	9	0	0	1	0	0	0	1	1	3	1	3	3	3	2	1	3	3	7	2	rs113129893		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:70070287C>A	ENST00000446444.1	-	5	1179	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	391					estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATGCCCACCATAGGGATC	0.428													A	70070287	C	A	70070287	3	1	609	1	0	0	0	0	1	0	0	0	17059	507	18	4	426	4	UGT2B11	4	70070287	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30745275	70070287	121083989	14	50591											
PROL1	58503	broad.mit.edu	37	chr4	71275670	71275670	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatactactcaaattctcGccaaccgtcctcacacagta	15	9	3	14	2	3	0	2	0	1	0	5	0	4	0	3	0	3	1	3	0	7	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:71275670G>A	ENST00000399575.2	+	3	799	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	209	Thr-rich.				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCAAATTCTCGCCAACCGTCC	0.463													A	71275670	G	A	71275670	3	1	609	1	0	0	0	0	1	0	0	0	12640	1087	38	1	631	1	PROL1	4	71275670	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	1205383	71275670	119878606	15	50592											
PARM1	25849	broad.mit.edu	37	chr4	75938016	75938016	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacactgtcgcagtccgCtgctgagcctcccacactca	8	8	8	17	2	1	1	1	1	0	0	4	1	3	1	3	0	4	4	3	0	1	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:75938016C>A	ENST00000307428.7	+	2	637	c.425C>A	c.(424-426)gCt>gAt	p.A142D	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	142					positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCGCAGTCCGCTGCTGAGCCT	0.572													A	75938016	C	A	75938016	3	1	609	1	0	0	0	0	1	0	0	0	11528	797	28	4	431	4	PARM1	4	75938016	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	4662346	75938016	115216260	16	50593											
TRAM1L1	133022	broad.mit.edu	37	chr4	118006209	118006209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttaaacttgttttgtttcGctttggtgaactgcattctc	6	19	8	8	2	1	1	0	1	1	0	3	1	1	1	0	1	3	5	0	1	3	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:118006209G>A	ENST00000310754.4	-	1	527	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	114					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		p.A114E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTGTTTCGCTTTGGTGAA	0.373													A	118006209	G	A	118006209	3	1	609	1	0	0	0	0	1	0	0	0	16553	1087	38	1	772	1	TRAM1L1	4	118006209	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	42068193	118006209	73148067	17	50594											
TMEM184C	55751	broad.mit.edu	37	chr4	148555479	148555479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaagggtttggacacaCtgtgactccccagactacac	11	8	8	14	0	0	2	0	1	0	1	1	3	1	3	3	2	2	1	3	2	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:148555479C>T	ENST00000296582.3	+	10	1785	c.1211C>T	c.(1210-1212)aCt>aTt	p.T404I	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	404						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTTGGACACACTGTGACTCCC	0.408													T	148555479	C	T	148555479	3	4	609	1	0	0	0	0	1	0	0	0	16206	565	20	2	1249	2	TMEM184C	4	148555479	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	30549270	148555479	42598797	18	50595											
ADAMTS19	171019	broad.mit.edu	37	chr5	129070795	129070795	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaaataccataacatcaccCagactgggtaagcagacaaa	18	6	7	10	0	1	2	1	0	0	2	1	2	1	2	2	1	3	3	2	1	6	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:129070795C>G	ENST00000274487.4	+	22	3610	c.3465C>G	c.(3463-3465)ccC>ccG	p.P1155P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1155					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAACATCACCCAGACTGGGTA	0.338													G	129070795	C	G	129070795	2	3	609	1	0	0	0	0	0	0	0	1	264	581	21	4		4	ADAMTS19	5	129070795	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		129070795	51844465	19	50596											
ANXA6	309	broad.mit.edu	37	chr5	150488109	150488109	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catcttgatgaactcctggaAgactggccacaagagaagcc	13	7	10	11	0	1	4	0	2	1	2	2	6	2	5	3	2	2	0	3	2	4	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:150488109A>G	ENST00000354546.5	-	23	1914	c.1687T>C	c.(1687-1689)Ttc>Ctc	p.F563L	ANXA6_ENST00000523714.1_Missense_Mutation_p.F531L|ANXA6_ENST00000521512.1_Missense_Mutation_p.F350L|ANXA6_ENST00000377751.5_Missense_Mutation_p.F220L|ANXA6_ENST00000356496.5_Missense_Mutation_p.F557L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	563						melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCCTGGAAGACTGGCCAC	0.582													G	150488109	A	G	150488109	3	3	609	1	0	0	0	0	1	0	0	0	722	72	3	3	350	3	ANXA6	5	150488109	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	21417314	150488109	30427151	20	50597											
EGFR	1956	broad.mit.edu	37	chr7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagccacgtgcaaggacAcctgccccccactcatgctc	10	5	8	18	2	1	0	1	0	0	0	2	2	1	1	5	1	4	2	5	1	2	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:55221743A>C	ENST00000275493.2	+	7	964	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P|EGFR_ENST00000420316.2_Missense_Mutation_p.T263P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GTGCAAGGACACCTGCCCCCC	0.577		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			C	55221743	A	C	55221743	3	2	609	1	0	0	0	0	1	0	0	0	5006	159	6	5	813	5	EGFR	7	55221743	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		55221743	103916920	21	50598											
MET	4233	broad.mit.edu	37	chr7	116395440	116395440	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tagtgcaccccttgaaggagGgacaaggctgaccatatgtg	11	8	13	9	0	0	2	0	2	0	0	0	4	0	4	3	3	1	2	3	3	4	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116395440G>C	ENST00000397752.3	+	6	1933	c.1733G>C	c.(1732-1734)gGg>gCg	p.G578A	MET_ENST00000495962.1_3'UTR|MET_ENST00000436117.2_Missense_Mutation_p.G578A|MET_ENST00000318493.6_Missense_Mutation_p.G578A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	578	IPT/TIG 1.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTGAAGGAGGGACAAGGCTG	0.368			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				C	116395440	G	C	116395440	3	2	609	1	0	0	0	0	1	0	0	0	9560	1232	43	4	1751	4	MET	7	116395440	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	61173697	116395440	42743223	22	50599											
MET	4233	broad.mit.edu	37	chr7	116412045	116412045	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgagctacttttccagaaggTatatttcagtttattgttct	9	18	7	7	1	2	1	1	0	1	1	3	2	3	1	1	1	2	4	1	1	5	10			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116412045T>A	ENST00000397752.3	+	14	3228		c.e14+2		MET_ENST00000318493.6_Splice_Site	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene						axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116412045	T	A	116412045	5	1	609	1	0	0	0	0	0	0	1	0	9560	1652	57	5	3134	5	MET	7	116412045	Splice_Site	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16605	116412045	42726618	23	50600											
KCND2	3751	broad.mit.edu	37	chr7	120381623	120381623	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatccgggcagccaaaagCggaagcgcaaatgcttacat	14	5	12	10	3	0	0	0	0	0	0	1	2	1	2	2	3	5	3	2	3	5	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:120381623C>G	ENST00000331113.4	+	3	2279	c.1314C>G	c.(1312-1314)agC>agG	p.S438R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	438					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					CAGCCAAAAGCGGAAGCGCAA	0.373													G	120381623	C	G	120381623	3	3	609	1	0	0	0	0	1	0	0	0	8077	767	27	4	1324	4	KCND2	7	120381623	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	3969578	120381623	38757040	24	50601											
FSCN3	29999	broad.mit.edu	37	chr7	127240253	127240253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcttccttctccagcacagGggggatccttctggtcaata	7	12	9	13	0	4	0	1	0	3	0	7	1	6	1	3	4	1	1	3	4	2	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:127240253G>C	ENST00000265825.5	+	6	1516	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	FSCN3_ENST00000420086.2_Splice_Site_p.G297A	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)	433						actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGCACAGGGGGGATCCTT	0.572													C	127240253	G	C	127240253	3	2	609	1	0	0	0	0	1	0	0	0	6121	1232	43	4	1319	4	FSCN3	7	127240253	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	6858630	127240253	31898410	25	50602											
GFRA2	2675	broad.mit.edu	37	chr8	21608324	21608324	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgcagcgctcggtgggCgagatctcgcggttgcagat	5	9	17	10	6	1	2	0	0	1	2	3	3	1	2	0	4	3	5	0	4	0	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:21608324C>T	ENST00000524240.1	-	4	1220	c.570G>A	c.(568-570)tcG>tcA	p.S190S	GFRA2_ENST00000517328.1_Silent_p.S190S|GFRA2_ENST00000518077.1_Silent_p.S57S|GFRA2_ENST00000400782.4_Silent_p.S85S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	190						anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCTCGGTGGGCGAGATCTCGC	0.607													T	21608324	C	T	21608324	2	4	609	1	0	0	0	0	0	0	0	1	6404	755	27	1		1	GFRA2	8	21608324	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21608324	124755698	26	50603											
ASPH	444	broad.mit.edu	37	chr8	62556552	62556552	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatatcctgattacagtCttgtgaaactataaattatg	13	16	5	7	0	1	2	0	2	1	0	3	2	3	2	2	0	2	0	2	0	7	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:62556552C>A	ENST00000541428.1	-	8	734	c.574G>T	c.(574-576)Gac>Tac	p.D192Y	ASPH_ENST00000522835.1_Missense_Mutation_p.D164Y|ASPH_ENST00000356457.5_Missense_Mutation_p.D221Y|ASPH_ENST00000518068.1_Missense_Mutation_p.D178Y|ASPH_ENST00000445642.3_Missense_Mutation_p.D207Y|ASPH_ENST00000517903.1_Missense_Mutation_p.D207Y|ASPH_ENST00000522919.1_Missense_Mutation_p.D34Y|ASPH_ENST00000379454.4_Missense_Mutation_p.D221Y|ASPH_ENST00000517847.2_Missense_Mutation_p.D207Y	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	221	Glu-rich.				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGATTACAGTCTTGTGAAACT	0.318													A	62556552	C	A	62556552	3	1	609	1	0	0	0	0	1	0	0	0	1058	913	32	4	1699	4	ASPH	8	62556552	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	40948228	62556552	83807470	27	50604											
TMEM67	91147	broad.mit.edu	37	chr8	94828614	94828614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttccagatttttagatatatCcgtaatacagtaggacaaaa	16	13	6	6	1	0	2	0	0	0	2	2	3	2	3	2	1	1	2	2	1	8	9			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:94828614C>T	ENST00000453321.3	+	28	2980	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_ENST00000409623.3_Silent_p.I893I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	974					cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259													T	94828614	C	T	94828614	2	4	609	1	0	0	0	0	0	0	0	1	16296	845	30	2		2	TMEM67	8	94828614	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	32272062	94828614	51535408	28	50605											
COL27A1	85301	broad.mit.edu	37	chr9	117005792	117005792	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctctgttgcagggtcaGcctggcaggaaggggtttcc	5	11	15	10	0	3	0	1	0	2	0	5	1	4	1	2	5	2	4	2	5	1	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:117005792G>C	ENST00000356083.3	+	23	3277	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	962	Collagen-like 6.|Pro-rich.|Triple-helical region.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGTCAGCCTGGCAGGA	0.627													C	117005792	G	C	117005792	3	2	609	1	0	0	0	0	1	0	0	0	3716	962	34	4	2976	4	COL27A1	9	117005792	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		117005792	24207639	29	50606											
TRAF2	7186	broad.mit.edu	37	chr9	139815579	139815579	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatggaggcatccacctaCgatggggtcttcatctggaa	10	9	13	9	1	3	1	1	0	2	1	4	5	4	3	2	5	1	1	2	5	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:139815579C>T	ENST00000359662.3	+	9	1251	c.1206C>T	c.(1204-1206)taC>taT	p.Y402Y	TRAF2_ENST00000536468.1_Silent_p.Y350Y|TRAF2_ENST00000247668.2_Silent_p.Y350Y			Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	350	MATH.				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CATCCACCTACGATGGGGTCT	0.602													T	139815579	C	T	139815579	2	4	609	1	0	0	0	0	0	0	0	1	16539	547	19	1		1	TRAF2	9	139815579	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	22809787	139815579	1397852	30	50607											
OR56A4	120793	broad.mit.edu	37	chr11	6023641	6023641	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagctgattgaaagtgatGtcatcacaagagagtttgga	14	11	12	4	0	2	5	2	3	0	2	2	7	2	6	0	1	1	2	0	1	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:6023641G>A	ENST00000330728.4	-	1	783	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAAGTGATGTCATCACAAG	0.428													A	6023641	G	A	6023641	2	1	609	1	0	0	0	0	0	0	0	1	11211	1368	48	2		2	OR56A4	11	6023641	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08		6023641	128982875	31	50608											
LDHA	3939	broad.mit.edu	37	chr11	18424533	18424533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cattaagctgtcatgggtggGtccttggggaacatggagat	9	11	15	6	0	1	1	1	0	0	1	2	3	2	2	1	5	2	1	1	5	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:18424533G>T	ENST00000422447.3	+	5	838	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	LDHA_ENST00000396222.2_Missense_Mutation_p.V189F|LDHA_ENST00000540430.1_Missense_Mutation_p.V218F|LDHA_ENST00000542179.1_Missense_Mutation_p.V189F|LDHA_ENST00000227157.4_Missense_Mutation_p.V189F|LDHA_ENST00000379412.5_Missense_Mutation_p.V189F|LDHA_ENST00000430553.2_Missense_Mutation_p.V131F	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	189					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12					NADH(DB00157)	TCATGGGTGGGTCCTTGGGGA	0.408													T	18424533	G	T	18424533	3	4	609	1	0	0	0	0	1	0	0	0	8757	1261	44	4	670	4	LDHA	11	18424533	Missense_Mutation	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	12400892	18424533	116581983	32	50609											
OR8K1	390157	broad.mit.edu	37	chr11	56113534	56113534	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatcatgtggtaaaacAcaatcacacggcagtgacca	16	7	9	9	1	2	2	2	2	0	0	2	3	2	2	1	2	1	2	1	2	4	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:56113534A>T	ENST00000279783.2	+	1	114	c.20A>T	c.(19-21)cAc>cTc	p.H7L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	7					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTGGTAAAACACAATCACACG	0.363										HNSCC(65;0.19)			T	56113534	A	T	56113534	3	4	609	1	0	0	0	0	1	0	0	0	11319	159	6	5	22	5	OR8K1	11	56113534	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	37689001	56113534	78892982	33	50610											
PGM2L1	283209	broad.mit.edu	37	chr11	74085469	74085469	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatacttacctgtgttgaCtgtattactgtaaggtcatt	11	17	7	6	0	1	1	1	1	0	0	1	1	1	1	1	1	3	3	1	1	6	8			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:74085469C>T	ENST00000298198.4	-	2	581	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	90					glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCTGTGTTGACTGTATTACTG	0.463													T	74085469	C	T	74085469	2	4	609	1	0	0	0	0	0	0	0	1	11876	564	20	2		2	PGM2L1	11	74085469	Silent	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	17971935	74085469	60921047	34	50611											
CAPZA3	93661	broad.mit.edu	37	chr12	18891867	18891867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttaaccaagctcaactggCtctaagttttgcaaggcttg	11	12	9	9	0	2	0	1	0	1	0	2	0	2	0	1	2	4	6	1	2	5	5			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:18891867C>T	ENST00000317658.3	+	1	823	c.665C>T	c.(664-666)gCt>gTt	p.A222V		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	222					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTCAACTGGCTCTAAGTTTT	0.393													T	18891867	C	T	18891867	3	4	609	1	0	0	0	0	1	0	0	0	2668	797	28	2	667	2	CAPZA3	12	18891867	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		18891867	114960028	35	50612											
SLC15A4	121260	broad.mit.edu	37	chr12	129283824	129283824	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagtctgtgtgactgctcAtccatccgatggctttgata	9	13	9	10	1	2	2	1	2	1	0	4	3	4	2	2	1	1	2	2	1	2	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:129283824A>T	ENST00000266771.5	-	7	1592	c.1553T>A	c.(1552-1554)aTg>aAg	p.M518K	SLC15A4_ENST00000545031.1_Missense_Mutation_p.M35K|SLC15A4_ENST00000544112.1_Missense_Mutation_p.M181K	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	518					oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTGACTGCTCATCCATCCGAT	0.542													T	129283824	A	T	129283824	3	4	609	1	0	0	0	0	1	0	0	0	14495	217	8	5	188	5	SLC15A4	12	129283824	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08	110391957	129283824	4568071	36	50613											
CHD8	57680	broad.mit.edu	37	chr14	21884050	21884050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttttcgcttaacttggCggtttgagcgtctcttctgt	4	20	9	8	3	2	1	0	1	2	0	4	1	2	1	0	2	2	2	0	2	1	7			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:21884050C>T	ENST00000399982.2	-	5	1797	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CHD8_ENST00000557364.1_Missense_Mutation_p.R578H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	578					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	p.R578H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAACTTGGCGGTTTGAGCG	0.378													T	21884050	C	T	21884050	3	4	609	1	0	0	0	0	1	0	0	0	3361	768	27	1	6144	1	CHD8	14	21884050	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		21884050	85465490	37	50614											
EIF5	1983	broad.mit.edu	37	chr14	103802435	103802435	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggttgacgttgcaaaggcGcttaatcggcctccaacgtg	9	10	12	10	4	0	1	0	1	0	0	2	1	1	1	2	3	2	4	2	3	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:103802435G>A	ENST00000216554.3	+	4	811	c.135G>A	c.(133-135)gcG>gcA	p.A45A	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Silent_p.A45A|EIF5_ENST00000392715.2_Silent_p.A45A	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	45					regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TTGCAAAGGCGCTTAATCGGC	0.408													A	103802435	G	A	103802435	2	1	609	1	0	0	0	0	0	0	0	1	5081	1074	38	1		1	EIF5	14	103802435	Silent	SNP	G	TCGA-HT-A61C-01A-11D-A29Q-08	81918385	103802435	3547105	38	50615											
RYR3	6263	broad.mit.edu	37	chr15	34150114	34150114	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgcgacgacatgatgaCggtgagagcccacccactgc	11	5	13	12	3	0	3	0	3	0	1	0	7	0	3	2	1	3	0	2	1	1	0			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:34150114C>T	ENST00000389232.4	+	99	14211	c.14141C>T	c.(14140-14142)aCg>aTg	p.T4714M	RYR3_ENST00000415757.3_Splice_Site_p.T4709M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACATGATGACGGTGAGAGCC	0.582													T	34150114	C	T	34150114	5	4	609	1	0	0	0	0	0	0	1	0	13861	550	19	1	14535	1	RYR3	15	34150114	Splice_Site	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		34150114	68381278	39	50616											
PCSK6	5046	broad.mit.edu	37	chr15	101938646	101938646	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgaaagcctgcttagccagtCggccgggcccgtccaccgtc	6	6	12	17	5	0	0	0	0	0	0	3	1	1	0	6	2	3	1	6	2	2	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:101938646C>T	ENST00000348070.1	-	8	955	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000358417.3_Missense_Mutation_p.R319Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000331826.7_Missense_Mutation_p.R154Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	320	Catalytic.				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAGCCAGTCGGCCGGGCCC	0.567													T	101938646	C	T	101938646	3	4	609	1	0	0	0	0	1	0	0	0	11680	884	31	1	2493	1	PCSK6	15	101938646	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08	67788532	101938646	592746	40	50617											
MYH11	4629	broad.mit.edu	37	chr16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctcgtctctggcttggCgaattgcccgtgatttttct	3	17	9	12	3	3	1	0	1	3	0	6	2	4	1	2	2	1	1	2	2	1	4			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr16:15870006C>T	ENST00000452625.2	-	9	926	c.839G>A	c.(838-840)cGc>cAc	p.R280H	MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000300036.5_Missense_Mutation_p.R273H|MYH11_ENST00000576790.2_Missense_Mutation_p.R273H	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGGCTTGGCGAATTGCCCG	0.488			T	CBFB	AML								T	15870006	C	T	15870006	3	4	609	1	0	0	0	0	1	0	0	0	10107	768	27	1	5271	1	MYH11	16	15870006	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		15870006	74484747	41	50618											
MYH2	4620	broad.mit.edu	37	chr17	10432347	10432347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcttctctgctttggccCgggaggcccgctctgcctcg	1	11	13	16	3	2	0	0	0	2	0	4	1	2	1	3	3	3	4	3	3	0	2	rs151164070		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:10432347C>T	ENST00000245503.5	-	27	3788	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	MYH2_ENST00000397183.2_Missense_Mutation_p.R1135Q|MYH2_ENST00000532183.2_Intron|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1135					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTTGGCCCGGGAGGCCCG	0.592													T	10432347	C	T	10432347	3	4	609	1	0	0	0	0	1	0	0	0	10111	652	23	1	2477	1	MYH2	17	10432347	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		10432347	70762863	42	50619											
MUC16	94025	broad.mit.edu	37	chr19	9076533	9076533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtgaccaggctggttccaAtgacagttatacggccatgg	10	9	13	9	1	0	2	0	2	0	0	1	3	1	2	3	4	1	3	3	4	3	3			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:9076533A>G	ENST00000397910.4	-	3	11116	c.10913T>C	c.(10912-10914)aTt>aCt	p.I3638T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3639	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						GCTGGTTCCAATGACAGTTAT	0.448													G	9076533	A	G	9076533	3	3	609	1	0	0	0	0	1	0	0	0	10049	101	4	3	32938	3	MUC16	19	9076533	Missense_Mutation	SNP	A	TCGA-HT-A61C-01A-11D-A29Q-08		9076533	50052450	43	50620											
LILRA6	79168	broad.mit.edu	37	chr19	54742930	54742930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccatgcccatgcggaTgagattctccactgtgtaat	8	11	10	12	1	1	1	0	1	1	1	2	3	1	2	4	1	3	1	4	1	1	2			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:54742930T>C	ENST00000396365.2	-	8	1384	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	LILRA6_ENST00000245621.5_Missense_Mutation_p.I432V|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000391735.3_Intron	NM_024318.2	NP_077294			leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6											central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCATGCGGATGAGATTCTCC	0.582													C	54742930	T	C	54742930	3	2	609	1	0	0	0	0	1	0	0	0	8849	1464	51	3	104	3	LILRA6	19	54742930	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	45666397	54742930	4386053	44	50621											
CDC25B	994	broad.mit.edu	37	chr20	3782703	3782703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcagaataagcggaggCggagcgtgacccctcctgag	9	5	15	12	4	0	3	0	2	0	1	1	5	1	5	4	3	3	1	4	3	2	1			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:3782703C>T	ENST00000245960.5	+	10	1751	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CDC25B_ENST00000340833.4_Missense_Mutation_p.R311W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000379598.5_Missense_Mutation_p.R261W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R338W|CDC25B_ENST00000344256.6_Missense_Mutation_p.R288W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	352					cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TAAGCGGAGGCGGAGCGTGAC	0.657													T	3782703	C	T	3782703	3	4	609	1	0	0	0	0	1	0	0	0	3093	759	27	1	1092	1	CDC25B	20	3782703	Missense_Mutation	SNP	C	TCGA-HT-A61C-01A-11D-A29Q-08		3782703	59242817	45	50622											
NAA20	51126	broad.mit.edu	37	chr20	19998065	19998065	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgctacgggcctttaccTgcgacgacctgttccgcttc	5	10	9	17	5	0	0	0	0	0	0	2	2	1	0	5	1	3	3	5	1	2	5			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:19998065T>A	ENST00000334982.4	+	1	306	c.25T>A	c.(25-27)Tgc>Agc	p.C9S	NAA20_ENST00000398602.2_5'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.C9S|NAA20_ENST00000484480.1_3'UTR	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	9	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity			endometrium(3)|lung(2)|prostate(1)	6						GGCCTTTACCTGCGACGACCT	0.716													A	19998065	T	A	19998065	3	1	609	1	0	0	0	0	1	0	0	0	10196	1580	55	5	27	5	NAA20	20	19998065	Missense_Mutation	SNP	T	TCGA-HT-A61C-01A-11D-A29Q-08	16215362	19998065	43027455	46	50623											
EPHA8	2046	broad.mit.edu	37	chr1	22923871	22923871	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagagccccagttctatgCggaaccccacacctacgagg	10	5	9	17	2	1	1	0	0	1	1	1	3	1	2	6	2	4	1	6	2	3	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:22923871C>T	ENST00000166244.3	+	10	1904	c.1832C>T	c.(1831-1833)gCg>gTg	p.A611V		NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	611						integral to plasma membrane	ATP binding|ephrin receptor activity			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CAGTTCTATGCGGAACCCCAC	0.652													T	22923871	C	T	22923871	3	4	610	1	0	0	0	0	1	0	0	0	5214	768	27	1	2043	1	EPHA8	1	22923871	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		22923871	226326750	1	50624											
OSBPL9	114883	broad.mit.edu	37	chr1	52252272	52252272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaagttggaagatcagaaCgagtatgaatcccgcaggta	15	7	13	6	2	1	3	1	1	0	2	2	6	2	5	1	3	1	4	1	3	6	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:52252272C>T	ENST00000371710.3	+	22	2219	c.2037C>T	c.(2035-2037)aaC>aaT	p.N679N	OSBPL9_ENST00000486942.1_Silent_p.N483N|OSBPL9_ENST00000531828.1_Silent_p.N496N|OSBPL9_ENST00000447887.1_Silent_p.N671N|OSBPL9_ENST00000462759.1_Silent_p.N483N|OSBPL9_ENST00000337809.4_Silent_p.N666N|OSBPL9_ENST00000371714.1_Silent_p.N648N|OSBPL9_ENST00000530544.1_Silent_p.N580N|OSBPL9_ENST00000435686.2_Silent_p.N496N|OSBPL9_ENST00000453295.1_Silent_p.N644N|OSBPL9_ENST00000361556.5_Silent_p.N551N|OSBPL9_ENST00000428468.1_Silent_p.N661N	NM_024586.5|NM_148906.2	NP_078862.4|NP_683704.2	Q96SU4	OSBL9_HUMAN	oxysterol binding protein-like 9	661					lipid transport		lipid binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|pancreas(1)|prostate(3)|skin(1)	18						AAGATCAGAACGAGTATGAAT	0.438													T	52252272	C	T	52252272	2	4	610	1	0	0	0	0	0	0	0	1	11360	535	19	1		1	OSBPL9	1	52252272	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	29328401	52252272	196998349	2	50625											
ANKRD13C	81573	broad.mit.edu	37	chr1	70779456	70779456	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaaatcccagtgaagttcTagataaaagtcacctagctg	15	10	8	8	0	2	3	1	2	1	1	3	3	3	3	2	0	1	2	2	0	7	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:70779456T>C	ENST00000370944.4	-	5	994	c.681A>G	c.(679-681)ctA>ctG	p.L227L	ANKRD13C_ENST00000262346.6_Silent_p.L192L	NM_030816.4	NP_110443.3	Q8N6S4	AN13C_HUMAN	ankyrin repeat domain 13C	227					protein retention in ER lumen|regulation of anoikis|regulation of receptor biosynthetic process	endoplasmic reticulum membrane|perinuclear region of cytoplasm	receptor binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	19						AGTGAAGTTCTAGATAAAAGT	0.289													C	70779456	T	C	70779456	2	2	610	1	0	0	0	0	0	0	0	1	643	1509	53	3		3	ANKRD13C	1	70779456	Silent	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	18527184	70779456	178471165	3	50626											
FLG2	388698	broad.mit.edu	37	chr1	152326021	152326021	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cccttcttccagttgtcctgGaccctctctgtgtggactgt	3	15	9	14	0	2	0	0	0	2	0	5	2	4	2	4	2	0	1	4	2	0	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:152326021G>T	ENST00000388718.5	-	3	4313	c.4241C>A	c.(4240-4242)tCc>tAc	p.S1414Y	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1414							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGTTGTCCTGGACCCTCTCTG	0.512													T	152326021	G	T	152326021	3	4	610	1	0	0	0	0	1	0	0	0	5972	1174	41	4	2938	4	FLG2	1	152326021	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	81546565	152326021	96924600	4	50627											
LAMB3	3914	broad.mit.edu	37	chr1	209788707	209788707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcctgtcaggtccgctgagCgcagcatgatggcctggctg	5	9	15	12	2	1	2	1	2	0	0	3	2	3	2	3	3	2	4	3	3	0	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:209788707C>T	ENST00000391911.1	-	22	3817	c.3428G>A	c.(3427-3429)cGc>cAc	p.R1143H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R1143H|LAMB3_ENST00000356082.4_Missense_Mutation_p.R1143H	NM_001017402.1	NP_001017402.1	Q13751	LAMB3_HUMAN	laminin, beta 3	1143	Domain I.				cell adhesion|epidermis development|hemidesmosome assembly		structural molecule activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		GTCCGCTGAGCGCAGCATGAT	0.587													T	209788707	C	T	209788707	3	4	610	1	0	0	0	0	1	0	0	0	8671	768	27	1	94	1	LAMB3	1	209788707	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	57462686	209788707	39461914	5	50628											
RYR2	6262	broad.mit.edu	37	chr1	237777418	237777418	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctccggctctactcagccGtctgtgctcttgggaaccac	5	11	9	16	2	5	0	1	0	4	0	6	1	5	1	3	2	4	2	3	2	2	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr1:237777418G>A	ENST00000366574.2	+	37	5307	c.4990G>A	c.(4990-4992)Gtc>Atc	p.V1664I	RYR2_ENST00000360064.6_Missense_Mutation_p.V1662I|RYR2_ENST00000542537.1_Missense_Mutation_p.V1648I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1664	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V1662L(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTACTCAGCCGTCTGTGCTCT	0.517													A	237777418	G	A	237777418	3	1	610	1	0	0	0	0	1	0	0	0	13860	1145	40	1	5136	1	RYR2	1	237777418	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	27988711	237777418	11473203	6	50629											
LRP2	4036	broad.mit.edu	37	chr2	170093742	170093742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtctgtccagtaaagattaCgacctacccaatctattgca	13	11	6	11	1	2	1	0	0	2	1	3	2	3	1	3	0	3	2	3	0	6	5			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:170093742C>T	ENST00000263816.3	-	28	4847	c.4562G>A	c.(4561-4563)cGt>cAt	p.R1521H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1521					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTAAAGATTACGACCTACCCA	0.363													T	170093742	C	T	170093742	3	4	610	1	0	0	0	0	1	0	0	0	9026	536	19	1	9613	1	LRP2	2	170093742	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		170093742	73105631	7	50630											
NEU2	4759	broad.mit.edu	37	chr2	233899438	233899438	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagccgccgccccagggcTgccaggggagcgtcatcagc	6	4	16	15	3	2	0	2	0	0	0	2	2	2	2	5	4	4	1	5	4	0	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr2:233899438T>G	ENST00000233840.3	+	2	814	c.814T>G	c.(814-816)Tgc>Ggc	p.C272G		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	272							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GCCCCAGGGCTGCCAGGGGAG	0.682													G	233899438	T	G	233899438	3	3	610	1	0	0	0	0	1	0	0	0	10418	1580	55	5	820	5	NEU2	2	233899438	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	63805696	233899438	9299935	8	50631											
SETD2	29072	broad.mit.edu	37	chr3	47161888	47161891	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															caccatcactttcagaatcaCtctctatttcctgcctcctt																										TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:47161888_47161891delCTCT	ENST00000409792.3	-	3	4277_4280	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs		NM_014159.6	NP_054878.5	Q9BYW2	SETD2_HUMAN	SET domain containing 2	1412					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	DNA binding|histone-lysine N-methyltransferase activity|oxidoreductase activity|transition metal ion binding			breast(6)|central_nervous_system(5)|endometrium(4)|kidney(63)|large_intestine(18)|lung(26)|ovary(6)|prostate(2)|skin(3)|soft_tissue(1)|stomach(2)|urinary_tract(5)	141		Acute lymphoblastic leukemia(5;0.0169)		BRCA - Breast invasive adenocarcinoma(193;0.000302)|KIRC - Kidney renal clear cell carcinoma(197;0.00732)|Kidney(197;0.00844)		TTCAGAATCACTCTCTATTTCCTG	0.412			"N, F, S, Mis"		clear cell renal carcinoma								-	47161891	CTCT	-	47161888	7	5	610	1	0	1	0	1	0	0	0	0	14224	565	20	0	3532	0	SETD2	3	47161888	Frame_Shift_Del	DEL	CTCT	TCGA-HT-A74H-01A-11D-A32B-08		47161888	150860542	9	50632											
ZPLD1	131368	broad.mit.edu	37	chr3	102187849	102187849	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caccgtcattgagaatggccGaagccagcggggccggtttt	8	8	14	11	4	1	1	1	1	0	1	1	3	1	1	4	4	2	1	4	4	2	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:102187849G>A	ENST00000306176.1	+	8	951	c.851G>A	c.(850-852)cGa>cAa	p.R284Q	ZPLD1_ENST00000466937.1_Missense_Mutation_p.R268Q|ZPLD1_ENST00000491959.1_Missense_Mutation_p.R268Q	NM_175056.1	NP_778226.1	Q8TCW7	ZPLD1_HUMAN	zona pellucida-like domain containing 1	268	ZP.					integral to membrane				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(18)|ovary(2)|skin(3)	35						GAGAATGGCCGAAGCCAGCGG	0.478													A	102187849	G	A	102187849	3	1	610	1	0	0	0	0	1	0	0	0	18320	1058	37	1	881	1	ZPLD1	3	102187849	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	55025961	102187849	95834581	10	50633											
PLXNA1	5361	broad.mit.edu	37	chr3	126749159	126749159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccggggctcagccctgcCgctggccatcaagtacatgt	8	7	11	15	2	2	0	2	0	0	0	2	0	2	0	4	3	3	3	4	3	2	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr3:126749159C>T	ENST00000393409.2	+	28	5135	c.5135C>T	c.(5134-5136)cCg>cTg	p.P1712L	PLXNA1_ENST00000251772.4_Missense_Mutation_p.P1689L	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1712					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		TCAGCCCTGCCGCTGGCCATC	0.602													T	126749159	C	T	126749159	3	4	610	1	0	0	0	0	1	0	0	0	12196	652	23	1	5245	1	PLXNA1	3	126749159	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	24561310	126749159	71273271	11	50634											
ATP8A1	10396	broad.mit.edu	37	chr4	42626599	42626600	+	Frame_Shift_Del	DEL	AA	AA	-																															ctgccacagctaaaataaatAagagaggaaccagtgttgta																										TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:42626599_42626600delAA	ENST00000381668.5	-	4	547_548	c.316_317delTT	c.(316-318)ttafs	p.L106fs	ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.L106fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	106					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAAAATAAATAAGAGAGGAACC	0.292													-	42626600	AA	-	42626599	7	5	610	1	0	1	0	1	0	0	0	0	1197	372	13	0	3391	0	ATP8A1	4	42626599	Frame_Shift_Del	DEL	AA	TCGA-HT-A74H-01A-11D-A32B-08		42626599	148527677	12	50635											
SHROOM3	57619	broad.mit.edu	37	chr4	77661986	77661986	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccggacgctcggctcctccGtagccagagcaccttccagc	6	6	11	18	4	0	1	0	0	0	1	4	2	3	2	6	2	3	4	6	2	1	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:77661986G>A	ENST00000296043.6	+	5	3613	c.2660G>A	c.(2659-2661)cGt>cAt	p.R887H		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	887					apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			CGGCTCCTCCGTAGCCAGAGC	0.711													A	77661986	G	A	77661986	3	1	610	1	0	0	0	0	1	0	0	0	14389	1145	40	1	2678	1	SHROOM3	4	77661986	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	35035387	77661986	113492290	13	50636											
FAT4	79633	broad.mit.edu	37	chr4	126355498	126355498	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaagcgtatttcacaacaAttcctgaggatgcaccaact	14	10	7	10	1	1	1	1	1	0	0	2	2	2	2	2	1	4	3	2	1	6	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr4:126355498A>G	ENST00000394329.3	+	7	7130	c.7117A>G	c.(7117-7119)Att>Gtt	p.I2373V	FAT4_ENST00000335110.5_Missense_Mutation_p.I671V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2373	Cadherin 23.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TTTCACAACAATTCCTGAGGA	0.413													G	126355498	A	G	126355498	3	3	610	1	0	0	0	0	1	0	0	0	5741	101	4	3	7143	3	FAT4	4	126355498	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08	48693512	126355498	64798778	14	50637											
AHRR	57491	broad.mit.edu	37	chr5	413482	413482	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttaatggctttgctctggtCgtgagtgcagaagggacgat	8	12	14	7	2	1	2	0	1	1	1	2	4	1	3	0	3	2	3	0	3	2	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:413482C>T	ENST00000316418.5	+	5	431	c.387C>T	c.(385-387)gtC>gtT	p.V129V	AHRR_ENST00000505113.1_Silent_p.V129V|AHRR_ENST00000512529.1_5'UTR	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	129	PAS.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			TTGCTCTGGTCGTGAGTGCAG	0.398													T	413482	C	T	413482	2	4	610	1	0	0	0	0	0	0	0	1	417	871	31	1		1	AHRR	5	413482	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		413482	180501778	15	50638											
DDX46	9879	broad.mit.edu	37	chr5	134102743	134102743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaaataaaagcaagaaaactGagaataggtaatgttatcat	21	9	8	3	0	1	2	1	1	0	2	1	4	1	2	0	1	2	3	0	1	10	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:134102743G>A	ENST00000452510.2	+	3	501	c.343G>A	c.(343-345)Gag>Aag	p.E115K	DDX46_ENST00000354283.4_Missense_Mutation_p.E115K	NM_014829.2	NP_055644.2	Q7L014	DDX46_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 46	115					mRNA processing|RNA splicing	Cajal body|nuclear speck	ATP binding|ATP-dependent helicase activity|RNA binding			NS(2)|breast(2)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			CAAGAAAACTGAGAATAGGTA	0.468													A	134102743	G	A	134102743	3	1	610	1	0	0	0	0	1	0	0	0	4398	1291	45	2	353	2	DDX46	5	134102743	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	133689261	134102743	46812517	16	50639											
PCDHA7	56141	broad.mit.edu	37	chr5	140215578	140215578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcagttccaggtgagcgCgcgcgatgcgggcgtgccgc	4	7	18	12	7	0	1	0	1	0	0	1	2	1	1	2	2	4	3	2	2	0	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:140215578C>T	ENST00000525929.1	+	1	1610	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.A537V|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGTGAGCGCGCGCGATGCG	0.677													T	140215578	C	T	140215578	3	4	610	1	0	0	0	0	1	0	0	0	11605	768	27	1	1612	1	PCDHA7	5	140215578	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	6112835	140215578	40699682	17	50640											
RANBP17	64901	broad.mit.edu	37	chr5	170345766	170345766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attttgtcgatttttggctcGtttaaagacaaattatcagc	11	17	7	6	2	1	1	1	0	0	1	3	2	1	1	0	1	1	2	0	1	4	7			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr5:170345766G>A	ENST00000523189.1	+	10	1168	c.1004G>A	c.(1003-1005)cGt>cAt	p.R335H		NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	335					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			TTTTTGGCTCGTTTAAAGACA	0.338			T	TRD@	ALL								A	170345766	G	A	170345766	3	1	610	1	0	0	0	0	1	0	0	0	13115	1145	40	1	1042	1	RANBP17	5	170345766	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	30130188	170345766	10569494	18	50641											
LTV1	84946	broad.mit.edu	37	chr6	144167303	144167303	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttcagagcttattccctCaagtaccttcagtgcacaca	10	11	6	14	0	3	1	3	0	0	1	4	1	4	1	3	0	3	3	3	0	3	5			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr6:144167303C>A	ENST00000367576.5	+	3	385	c.251C>A	c.(250-252)tCa>tAa	p.S84*		NM_032860.3	NP_116249.2	Q96GA3	LTV1_HUMAN	LTV1 homolog (S. cerevisiae)	84										breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13				OV - Ovarian serous cystadenocarcinoma(155;2.72e-06)|GBM - Glioblastoma multiforme(68;0.0372)		CTTATTCCCTCAAGTACCTTC	0.463													A	144167303	C	A	144167303	4	1	610	1	0	0	0	0	0	1	0	0	9151	838	29	4	261	4	LTV1	6	144167303	Nonsense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		144167303	26947764	19	50642											
IKZF1	10320	broad.mit.edu	37	chr7	50468070	50468070	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggaggagcaccgcgcctaCgacctgctgcgcgccgcctc	7	4	13	17	6	0	0	0	0	0	0	1	3	0	2	5	2	4	2	5	2	2	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:50468070C>T	ENST00000331340.3	+	8	1460	c.1305C>T	c.(1303-1305)taC>taT	p.Y435Y	IKZF1_ENST00000438033.1_Silent_p.Y348Y|IKZF1_ENST00000439701.1_Silent_p.Y393Y|IKZF1_ENST00000349824.4_Silent_p.Y292Y|IKZF1_ENST00000440768.2_3'UTR|IKZF1_ENST00000346667.4_Silent_p.Y205Y|IKZF1_ENST00000343574.5_Silent_p.Y348Y|IKZF1_ENST00000359197.5_Silent_p.Y393Y|IKZF1_ENST00000357364.4_Silent_p.Y348Y	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	435					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(28)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				ACCGCGCCTACGACCTGCTGC	0.672			"D,T"	BCL6	"ALL, DLBCL"								T	50468070	C	T	50468070	2	4	610	1	0	0	0	0	0	0	0	1	7672	547	19	1		1	IKZF1	7	50468070	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		50468070	108670593	20	50643											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC																															cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc																										TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000605417.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000430027.3_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													GCC	96635421	-	GCC	96635420	7	5	610	1	0	1	1	0	0	0	0	0	4614	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-HT-A74H-01A-11D-A32B-08	46167350	96635420	62503243	21	50644											
MUC17	140453	broad.mit.edu	37	chr7	100681032	100681032	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatacctctcagcaccaCgccggtggccagtcctgagg	9	7	11	14	2	1	1	1	1	1	0	3	1	2	1	5	3	2	2	5	3	3	2	rs138732859		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:100681032C>T	ENST00000306151.4	+	3	6399	c.6335C>T	c.(6334-6336)aCg>aTg	p.T2112M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2112	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)					CTCAGCACCACGCCGGTGGCC	0.498													T	100681032	C	T	100681032	3	4	610	1	0	0	0	0	1	0	0	0	10050	536	19	1	6345	1	MUC17	7	100681032	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	4045612	100681032	58457631	22	50645											
EXOC4	60412	broad.mit.edu	37	chr7	133602453	133602453	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatatggctcaacccaaacaGctgaggccaaaaagagagga	18	4	10	9	0	1	2	1	1	0	1	1	4	1	3	2	3	3	2	2	3	6	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:133602453G>A	ENST00000253861.4	+	13	2018	c.1989G>A	c.(1987-1989)caG>caA	p.Q663Q	EXOC4_ENST00000460346.1_3'UTR|EXOC4_ENST00000545148.1_Silent_p.Q273Q|EXOC4_ENST00000539845.1_Silent_p.Q562Q	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	663					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AACCCAAACAGCTGAGGCCAA	0.398													A	133602453	G	A	133602453	2	1	610	1	0	0	0	0	0	0	0	1	5347	962	34	2		2	EXOC4	7	133602453	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	32921421	133602453	25536210	23	50646											
KIAA1549	57670	broad.mit.edu	37	chr7	138603696	138603696	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtgtggaaatgactggCggactcagcatatgccgctg	11	8	14	8	2	1	1	1	1	0	0	1	3	1	3	1	4	2	2	1	4	3	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr7:138603696C>T	ENST00000440172.1	-	2	724	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	KIAA1549_ENST00000242365.4_Missense_Mutation_p.A176T|KIAA1549_ENST00000422774.1_Missense_Mutation_p.A226T	NM_001164665.1|NM_020910.2	NP_001158137.1|NP_065961.2	Q9HCM3	K1549_HUMAN	KIAA1549	226						integral to membrane			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AAATGACTGGCGGACTCAGCA	0.498			O	BRAF	pilocytic astrocytoma								T	138603696	C	T	138603696	3	4	610	1	0	0	0	0	1	0	0	0	8302	768	27	1	5252	1	KIAA1549	7	138603696	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	5001243	138603696	20534967	24	50647											
CSMD3	114788	broad.mit.edu	37	chr8	113353895	113353895	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatggtttctgtagaaaaatTtacaaactggagatgtacac	15	13	8	5	0	1	2	0	0	1	2	1	3	1	2	0	2	3	3	0	2	7	6			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:113353895T>A	ENST00000297405.5	-	42	6707	c.6463A>T	c.(6463-6465)Aat>Tat	p.N2155Y	CSMD3_ENST00000455883.2_Missense_Mutation_p.N2051Y|CSMD3_ENST00000343508.3_Missense_Mutation_p.N2115Y|CSMD3_ENST00000352409.3_Missense_Mutation_p.N2085Y	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2155	CUB 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTAGAAAAATTTACAAACTGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113353895	T	A	113353895	3	1	610	1	0	0	0	0	1	0	0	0	3979	1841	64	5	4780	5	CSMD3	8	113353895	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08		113353895	33010127	25	50648											
SPATC1	375686	broad.mit.edu	37	chr8	145094826	145094826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtgtcttcctgcccccGtccccagcagtggcaaacga	7	7	10	17	2	1	0	0	0	1	0	3	1	3	0	6	2	3	2	6	2	1	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr8:145094826G>A	ENST00000377470.3	+	2	330	c.228G>A	c.(226-228)ccG>ccA	p.P76P	SPATC1_ENST00000447830.2_Silent_p.P76P	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	76	Necessary for targeting centrosomes (By similarity).									NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCTGCCCCCGTCCCCAGCAG	0.632													A	145094826	G	A	145094826	2	1	610	1	0	0	0	0	0	0	0	1	15113	1132	40	1		1	SPATC1	8	145094826	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	31740931	145094826	1269196	26	50649											
ZNF658	26149	broad.mit.edu	37	chr9	40789482	40789483	+	Splice_Site	INS	-	-	A																															gtaatcctattcatgtgcctINSaaaaaaaaaaatcatcgcac																										TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:40789482_40789483insA	ENST00000602553.1	-	2	94		c.e2-2		ZNF658_ENST00000441795.1_Splice_Site|ZNF658_ENST00000377626.3_Intron			Q5TYW1	ZN658_HUMAN	zinc finger protein 658						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	46				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		TTCATGTGCCTAAAAAAAAAAA	0.426													A	40789483	-	A	40789482	8	5	610	1	0	1	1	0	0	0	1	0	18170	1537	53	0		0	ZNF658	9	40789482	Splice_Site	INS	-	TCGA-HT-A74H-01A-11D-A32B-08		40789482	100423949	27	50650											
PRUNE2	158471	broad.mit.edu	37	chr9	79318298	79318298	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagctcaaggaactctgtcTcctcctccatttccgtgtca	7	12	7	15	2	4	0	2	0	2	0	8	2	7	1	4	1	2	1	4	1	2	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr9:79318298T>C	ENST00000428286.1	-	9	8354	c.7154A>G	c.(7153-7155)gAg>gGg	p.E2385G	PRUNE2_ENST00000376718.3_Missense_Mutation_p.E2744G			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	2744					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GAACTCTGTCTCCTCCTCCAT	0.423													C	79318298	T	C	79318298	3	2	610	1	0	0	0	0	1	0	0	0	12726	1551	54	3	1079	3	PRUNE2	9	79318298	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	38528816	79318298	61895133	28	50651											
PITRM1	10531	broad.mit.edu	37	chr10	3189439	3189439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaatcctcttcatcagccGcacctaagccagaggaaact	12	8	7	14	1	3	1	2	0	1	1	4	2	4	2	4	1	4	2	4	1	3	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:3189439G>A	ENST00000380989.2	-	20	2280	c.2242C>T	c.(2242-2244)Cgg>Tgg	p.R748W	PITRM1-AS1_ENST00000598280.1_RNA|PITRM1-AS1_ENST00000601046.1_RNA|PITRM1_ENST00000464395.1_5'UTR|PITRM1_ENST00000224949.4_Missense_Mutation_p.R747W|PITRM1_ENST00000451104.2_Missense_Mutation_p.R649W|PITRM1_ENST00000380994.1_Missense_Mutation_p.R305W	NM_001242307.1|NM_014889.3	NP_001229236.1|NP_055704.2	E7ES23	E7ES23_HUMAN	pitrilysin metallopeptidase 1	649					proteolysis		metalloendopeptidase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						TTCATCAGCCGCACCTAAGCC	0.498													A	3189439	G	A	3189439	3	1	610	1	0	0	0	0	1	0	0	0	12030	1086	38	1	906	1	PITRM1	10	3189439	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		3189439	132345308	29	50652											
GHITM	27069	broad.mit.edu	37	chr10	85903820	85903820	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggagcattgtgctactatgGcttgggactgtctaatgaga	9	13	13	6	0	1	1	0	1	1	1	1	4	1	3	0	3	3	3	0	3	3	5			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr10:85903820G>T	ENST00000372134.3	+	4	492	c.299G>T	c.(298-300)gGc>gTc	p.G100V		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	100					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						TGCTACTATGGCTTGGGACTG	0.413													T	85903820	G	T	85903820	3	4	610	1	0	0	0	0	1	0	0	0	6426	1203	42	4	309	4	GHITM	10	85903820	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	82714381	85903820	49630927	30	50653											
OR4C6	219432	broad.mit.edu	37	chr11	55433101	55433101	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtggggggatttatgcaCgcaatgatacaacttctctt	9	13	12	7	1	1	1	0	1	1	0	2	2	1	2	0	4	3	2	0	4	4	5	rs144378683		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:55433101C>T	ENST00000314259.3	+	1	488	c.459C>T	c.(457-459)caC>caT	p.H153H		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H153H(1)		breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						GATTTATGCACGCAATGATAC	0.463													T	55433101	C	T	55433101	2	4	610	1	0	0	0	0	0	0	0	1	11128	535	19	1		1	OR4C6	11	55433101	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		55433101	79573415	31	50654											
ZDHHC5	25921	broad.mit.edu	37	chr11	57457663	57457663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaggaactctcaggggtccGcacggctgtcacgtatcctt	8	9	12	12	3	2	1	2	0	1	1	5	2	4	2	2	4	1	3	2	4	2	2	rs141814126		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr11:57457663G>A	ENST00000287169.3	+	5	1907	c.545G>A	c.(544-546)cGc>cAc	p.R182H	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.R129H	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	182						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						TCAGGGGTCCGCACGGCTGTC	0.517													A	57457663	G	A	57457663	3	1	610	1	0	0	0	0	1	0	0	0	17719	1087	38	1	559	1	ZDHHC5	11	57457663	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	2024562	57457663	77548853	32	50655											
PRB4	5545	broad.mit.edu	37	chr12	11461396	11461396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaggagatcgggcacttCgggacttgtttccttcctgt	5	13	13	10	2	0	1	0	0	0	1	4	4	2	3	2	4	0	2	2	4	0	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:11461396C>T	ENST00000279575.1	-	3	554	c.521G>A	c.(520-522)cGa>cAa	p.R174Q	PRB4_ENST00000535904.1_Missense_Mutation_p.R174Q|PRB4_ENST00000445719.2_Intron	NM_001261399.1|NM_002723.4	NP_001248328.1|NP_002714.2	P10163	PRB4_HUMAN	proline-rich protein BstNI subfamily 4	237	9.5 X 21 AA tandem repeats of K-P-[EQ]- [GR]-[PR]-[PR]-P-Q-G-G-N-Q-[PS]-[QH]- [RG]-[PT]-P-P-[PH]-P-G.		Missing (in allele S).	Missing (in Ref. 7; CAA30542).		extracellular region		p.R174Q(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|skin(4)|upper_aerodigestive_tract(3)	30						TCGGGCACTTCGGGACTTGTT	0.597										HNSCC(22;0.051)			T	11461396	C	T	11461396	3	4	610	1	0	0	0	0	1	0	0	0	12531	884	31	1	226	1	PRB4	12	11461396	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		11461396	122390499	33	50656											
SLC2A13	114134	broad.mit.edu	37	chr12	40345131	40345131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattaaagctcggcgagttGggggataactcagcattctg	11	10	12	8	2	2	0	1	0	1	0	3	2	2	1	0	3	3	3	0	3	4	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:40345131G>A	ENST00000280871.4	-	4	1012	c.962C>T	c.(961-963)cCa>cTa	p.P321L	SLC2A13_ENST00000380858.1_Missense_Mutation_p.P321L	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	321						integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				TCGGCGAGTTGGGGGATAACT	0.373										HNSCC(50;0.14)			A	40345131	G	A	40345131	3	1	610	1	0	0	0	0	1	0	0	0	14636	1348	47	2	1012	2	SLC2A13	12	40345131	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	28883735	40345131	93506764	34	50657											
LRP1	4035	broad.mit.edu	37	chr12	57556127	57556127	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggtcctgagctgaacCacgcctttggcctgtgtcac	8	10	11	12	1	1	3	1	3	0	0	2	3	2	3	4	2	2	1	4	2	2	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:57556127C>T	ENST00000243077.3	+	14	2696	c.2230C>T	c.(2230-2232)Cac>Tac	p.H744Y		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	744					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGAGCTGAACCACGCCTTTGG	0.527													T	57556127	C	T	57556127	3	4	610	1	0	0	0	0	1	0	0	0	9021	594	21	2	2284	2	LRP1	12	57556127	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	17210996	57556127	76295768	35	50658											
NTN4	59277	broad.mit.edu	37	chr12	96180767	96180767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatttagaagtacaaatagCgcccttcttgacaacatcat	14	12	6	9	1	2	2	1	1	1	1	2	2	2	2	1	0	3	2	1	0	7	7	rs142996736		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr12:96180767C>T	ENST00000343702.4	-	2	983	c.535G>A	c.(535-537)Gct>Act	p.A179T	NTN4_ENST00000553059.1_Missense_Mutation_p.A179T|NTN4_ENST00000344911.4_Missense_Mutation_p.A142T|NTN4_ENST00000538383.1_Missense_Mutation_p.A142T	NM_021229.3	NP_067052.2	Q9HB63	NET4_HUMAN	netrin 4	179	Laminin N-terminal.				axon guidance	basement membrane|plasma membrane				NS(2)|breast(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						GTACAAATAGCGCCCTTCTTG	0.438													T	96180767	C	T	96180767	3	4	610	1	0	0	0	0	1	0	0	0	10778	768	27	1	1387	1	NTN4	12	96180767	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	38624640	96180767	37671128	36	50659											
SIAH3	283514	broad.mit.edu	37	chr13	46357873	46357873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgatccaatcagccggcGcggggaggtgcatgtccgtg	7	8	16	10	4	1	2	1	2	0	0	3	3	3	3	3	4	2	1	3	4	1	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr13:46357873G>A	ENST00000400405.2	-	2	561	c.455C>T	c.(454-456)gCg>gTg	p.A152V		NM_198849.2	NP_942146.2	Q8IW03	SIAH3_HUMAN	siah E3 ubiquitin protein ligase family member 3	152					multicellular organismal development|ubiquitin-dependent protein catabolic process	nucleus	metal ion binding			large_intestine(3)|lung(7)|ovary(1)|skin(1)	12						ATCAGCCGGCGCGGGGAGGTG	0.617													A	46357873	G	A	46357873	3	1	610	1	0	0	0	0	1	0	0	0	14395	1087	38	1	358	1	SIAH3	13	46357873	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		46357873	68812005	37	50660											
OR10G2	26534	broad.mit.edu	37	chr14	22102278	22102278	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacaggtggagaaggcccGgcgcctcccatcagcggtgc	7	4	15	15	3	1	1	1	0	0	1	2	2	2	1	4	5	2	0	4	5	1	0	rs137944778		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:22102278G>A	ENST00000542433.1	-	1	818	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	241					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		GAGAAGGCCCGGCGCCTCCCA	0.552													A	22102278	G	A	22102278	3	1	610	1	0	0	0	0	1	0	0	0	10975	1115	39	1	214	1	OR10G2	14	22102278	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		22102278	85247262	38	50661											
JAG2	3714	broad.mit.edu	37	chr14	105622205	105622205	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcgctgtagtagttctcGtcgcagcgcacgcggatctg	5	10	15	11	6	2	0	0	0	2	0	4	1	2	1	0	2	1	6	0	2	2	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr14:105622205G>A	ENST00000331782.3	-	4	1000	c.597C>T	c.(595-597)gaC>gaT	p.D199D	RP11-44N21.4_ENST00000548203.1_RNA|JAG2_ENST00000347004.2_Silent_p.D199D	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	199	DSL.				auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		AGTAGTTCTCGTCGCAGCGCA	0.627													A	105622205	G	A	105622205	2	1	610	1	0	0	0	0	0	0	0	1	7993	1136	40	1		1	JAG2	14	105622205	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	83519927	105622205	1727335	39	50662											
ZNRF1	84937	broad.mit.edu	37	chr16	75127493	75127493	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtgccccatttgctccAagtctgtggcttctgacgag	7	12	10	12	1	3	1	1	1	2	0	4	2	4	1	3	1	2	2	3	1	2	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75127493A>G	ENST00000335325.4	+	2	1090	c.448A>G	c.(448-450)Aag>Gag	p.K150E	ZNRF1_ENST00000566250.1_Missense_Mutation_p.K150E|ZNRF1_ENST00000320619.6_Missense_Mutation_p.K150E|ZNRF1_ENST00000564320.1_3'UTR|ZNRF1_ENST00000567962.1_Missense_Mutation_p.K150E	NM_032268.4	NP_115644.1	Q8ND25	ZNRF1_HUMAN	zinc and ring finger 1, E3 ubiquitin protein ligase	150						cell junction|endosome|lysosome|synaptic vesicle membrane	ligase activity|protein binding|zinc ion binding			breast(1)	1						CATTTGCTCCAAGTCTGTGGC	0.483													G	75127493	A	G	75127493	3	3	610	1	0	0	0	0	1	0	0	0	18310	131	5	3	454	3	ZNRF1	16	75127493	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08		75127493	15227260	40	50663											
BCAR1	9564	broad.mit.edu	37	chr16	75271148	75271148	+	Frame_Shift_Del	DEL	G	G	-																															catagatgtcctgtggccccGgggccagcaggtgtcgcggg																										TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr16:75271148delG	ENST00000546196.1	-	3	2293	c.641delC	c.(640-642)ccgfs	p.P214fs	BCAR1_ENST00000393422.2_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000393420.6_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000535626.2_Frame_Shift_Del_p.P95fs|BCAR1_ENST00000418647.3_Frame_Shift_Del_p.P289fs|BCAR1_ENST00000542031.2_Frame_Shift_Del_p.P241fs|BCAR1_ENST00000162330.5_Frame_Shift_Del_p.P243fs|BCAR1_ENST00000420641.3_Frame_Shift_Del_p.P261fs|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000538440.2_Frame_Shift_Del_p.P243fs			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	243	Substrate for kinases (By similarity).				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGTGGCCCCGGGGCCAGCAG	0.697													-	75271148	G	-	75271148	7	5	610	1	0	1	0	1	0	0	0	0	1353	1116	39	0	1958	0	BCAR1	16	75271148	Frame_Shift_Del	DEL	G	TCGA-HT-A74H-01A-11D-A32B-08	143655	75271148	15083605	41	50664											
MYOCD	93649	broad.mit.edu	37	chr17	12666860	12666860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccacaccaggctttagcGccctcaccaccagcagcccc	9	6	6	20	1	1	0	1	0	0	0	2	0	2	0	7	1	3	2	7	1	1	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:12666860G>A	ENST00000425538.1	+	14	3060	c.2860G>A	c.(2860-2862)Gcc>Acc	p.A954T	RP11-1090M7.1_ENST00000584772.1_RNA|MYOCD_ENST00000343344.4_Missense_Mutation_p.A906T	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	906					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	p.A906T(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		AGGCTTTAGCGCCCTCACCAC	0.517													A	12666860	G	A	12666860	3	1	610	1	0	0	0	0	1	0	0	0	10163	1087	38	1	2926	1	MYOCD	17	12666860	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		12666860	68528350	42	50665											
SLC13A2	9058	broad.mit.edu	37	chr17	26816242	26816242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgcaggaggcctactGcgcgtatgccatcatcctca	8	8	9	16	2	2	0	2	0	0	0	3	1	3	1	5	2	4	2	5	2	2	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:26816242G>A	ENST00000444914.3	+	2	533	c.113G>A	c.(112-114)tGc>tAc	p.C38Y	SLC13A2_ENST00000537681.1_5'UTR|SLC13A2_ENST00000545060.1_Intron|SLC13A2_ENST00000314669.5_Missense_Mutation_p.C38Y	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	38						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GAGGCCTACTGCGCGTATGCC	0.602													A	26816242	G	A	26816242	3	1	610	1	0	0	0	0	1	0	0	0	14486	1319	46	2	119	2	SLC13A2	17	26816242	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	14149382	26816242	54378968	43	50666											
SLFN13	146857	broad.mit.edu	37	chr17	33767661	33767661	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctggaagccagacagaTcagaatattgggtaagatag	14	8	12	7	0	1	4	1	0	0	4	1	5	1	5	2	2	2	1	2	2	5	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:33767661T>A	ENST00000285013.6	-	6	2922	c.2647A>T	c.(2647-2649)Atc>Ttc	p.I883F	SLFN13_ENST00000526861.1_Missense_Mutation_p.I883F|SLFN13_ENST00000533791.1_Missense_Mutation_p.I883F|SLFN13_ENST00000360502.2_Missense_Mutation_p.I565F|SLFN13_ENST00000534689.1_Missense_Mutation_p.I565F|SLFN13_ENST00000542635.1_Missense_Mutation_p.I883F	NM_144682.5	NP_653283.3	Q68D06	SLN13_HUMAN	schlafen family member 13	883						intracellular	ATP binding			NS(1)|breast(1)|endometrium(1)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	31				UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		GCCAGACAGATCAGAATATTG	0.448													A	33767661	T	A	33767661	3	1	610	1	0	0	0	0	1	0	0	0	14830	1435	50	5	50	5	SLFN13	17	33767661	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	6951419	33767661	47427549	44	50667											
KRT27	342574	broad.mit.edu	37	chr17	38933308	38933308	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtggatttctcttccacAgtgtgaactctggatgagag	8	14	12	7	0	2	2	0	2	2	1	4	5	3	4	1	3	1	0	1	3	1	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:38933308A>C	ENST00000301656.3	-	8	1363	c.1323T>G	c.(1321-1323)acT>acG	p.T441T	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	441	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				TCTCTTCCACAGTGTGAACTC	0.413													C	38933308	A	C	38933308	2	2	610	1	0	0	0	0	0	0	0	1	8522	175	7	5		5	KRT27	17	38933308	Silent	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08	5165647	38933308	42261902	45	50668											
G6PC	2538	broad.mit.edu	37	chr17	41063169	41063169	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcaagaacctgggcaCgctctttggcctggggctgg	5	9	13	14	1	2	1	1	0	1	1	3	1	3	1	4	5	1	3	4	5	2	1	rs145296477	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:41063169C>T	ENST00000253801.2	+	5	879	c.800C>T	c.(799-801)aCg>aTg	p.T267M	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	267					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		AACCTGGGCACGCTCTTTGGC	0.582													T	41063169	C	T	41063169	3	4	610	1	0	0	0	0	1	0	0	0	6195	536	19	1	818	1	G6PC	17	41063169	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	2129861	41063169	40132041	46	50669											
ERN1	2081	broad.mit.edu	37	chr17	62131666	62131666	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactggaattgccggtcctTctccgtgcagaagtagcgga	8	10	13	10	3	1	1	0	0	1	1	3	3	2	3	3	3	4	3	3	3	4	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:62131666T>G	ENST00000433197.3	-	15	1992	c.1897A>C	c.(1897-1899)Aag>Cag	p.K633Q		NM_001433.3	NP_001424.3	O75460	ERN1_HUMAN	endoplasmic reticulum to nucleus signaling 1		Protein kinase.				activation of signaling protein activity involved in unfolded protein response|apoptosis|cell cycle arrest|induction of apoptosis|mRNA processing|regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to endoplasmic reticulum membrane	ATP binding|endoribonuclease activity, producing 5'-phosphomonoesters|magnesium ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(4)|kidney(1)|lung(2)|ovary(1)|stomach(1)	9						TGCCGGTCCTTCTCCGTGCAG	0.488													G	62131666	T	G	62131666	3	3	610	1	0	0	0	0	1	0	0	0	5278	1792	62	5	1068	5	ERN1	17	62131666	Missense_Mutation	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08	21068497	62131666	19063544	47	50670											
BAIAP2	10458	broad.mit.edu	37	chr17	79059507	79059507	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggagcagaaggtggagctGgactccaggtatctgagtgt	9	9	16	7	0	1	2	0	1	1	1	2	5	2	5	1	5	2	3	1	5	2	1			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr17:79059507G>A	ENST00000321300.6	+	5	426	c.333G>A	c.(331-333)ctG>ctA	p.L111L	BAIAP2_ENST00000435091.3_Silent_p.L111L|BAIAP2_ENST00000575712.1_Silent_p.L111L|BAIAP2_ENST00000575245.1_Silent_p.L144L|BAIAP2_ENST00000573894.1_3'UTR|BAIAP2_ENST00000392411.3_Silent_p.L33L|BAIAP2_ENST00000428708.2_Silent_p.L111L|BAIAP2_ENST00000321280.7_Silent_p.L111L	NM_001144888.1|NM_017451.2	NP_001138360.1|NP_059345.1	Q9UQB8	BAIP2_HUMAN	BAI1-associated protein 2	111	IMD.				axonogenesis|filopodium assembly|insulin receptor signaling pathway|regulation of actin cytoskeleton organization|response to bacterium	cell junction|cytoskeleton|cytosol|filopodium|nucleus|ruffle	cytoskeletal adaptor activity|proline-rich region binding|protein C-terminus binding|SH3 domain binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(6)|skin(1)	18	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0228)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			AGGTGGAGCTGGACTCCAGGT	0.587													A	79059507	G	A	79059507	2	1	610	1	0	0	0	0	0	0	0	1	1306	1335	47	2		2	BAIAP2	17	79059507	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	16927841	79059507	2135703	48	50671											
MC5R	4161	broad.mit.edu	37	chr18	13826283	13826283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggctttctgcacgggctgCggcattgtcttcatcctgta	4	14	12	11	2	3	0	1	0	2	0	4	0	4	0	1	3	2	5	1	3	1	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13826283C>T	ENST00000324750.3	+	1	741	c.519C>T	c.(517-519)tgC>tgT	p.C173C		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	173					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						GCACGGGCTGCGGCATTGTCT	0.567													T	13826283	C	T	13826283	2	4	610	1	0	0	0	0	0	0	0	1	9442	776	27	1		1	MC5R	18	13826283	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		13826283	64250965	49	50672											
MC2R	4158	broad.mit.edu	37	chr18	13884771	13884771	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatgtagcaggcgcagtaGgggttacttgggcagaatgt	10	9	16	6	1	0	1	0	0	0	1	0	2	0	1	0	4	2	6	0	4	4	4			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr18:13884771G>T	ENST00000327606.3	-	2	927	c.747C>A	c.(745-747)ccC>ccA	p.P249P		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	249					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	AGGCGCAGTAGGGGTTACTTG	0.542													T	13884771	G	T	13884771	2	4	610	1	0	0	0	0	0	0	0	1	9439	987	35	4		4	MC2R	18	13884771	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	58488	13884771	64192477	50	50673											
MUC16	94025	broad.mit.edu	37	chr19	9075892	9075892	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagctgtctgcccttgtcTctgaaaagttgcatctggag	9	12	11	9	0	3	2	0	1	3	1	4	3	3	3	1	1	3	3	1	1	3	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:9075892T>G	ENST00000397910.4	-	3	11757	c.11554A>C	c.(11554-11556)Aga>Cga	p.R3852R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3853	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						TGCCCTTGTCTCTGAAAAGTT	0.493													G	9075892	T	G	9075892	2	3	610	1	0	0	0	0	0	0	0	1	10049	1559	54	5		5	MUC16	19	9075892	Silent	SNP	T	TCGA-HT-A74H-01A-11D-A32B-08		9075892	50053091	51	50674											
PPAN	56342	broad.mit.edu	37	chr19	10224746	10224746	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgggccgtgagcgctgccGgctgggtcctggccgccctg	1	7	17	16	4	0	1	0	1	0	0	1	1	1	1	6	4	2	2	6	4	0	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:10224746G>A	ENST00000556468.1	+	13	1744	c.1717G>A	c.(1717-1719)Ggc>Agc	p.G573S	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.G573S|PPAN-P2RY11_ENST00000428358.1_3'UTR|P2RY11_ENST00000321826.4_Missense_Mutation_p.G153S					peter pan homolog (Drosophila)											endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GAGCGCTGCCGGCTGGGTCCT	0.697													A	10224746	G	A	10224746	3	1	610	1	0	0	0	0	1	0	0	0	12365	1116	39	1		1	PPAN	19	10224746	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	1148854	10224746	48904237	52	50675											
PDE4C	5143	broad.mit.edu	37	chr19	18337154	18337154	+	Frame_Shift_Del	DEL	G	G	-																															aaaagcttcctgaagagcccGggggagccgcgcggggatcc																										TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:18337154delG	ENST00000262805.12	-	1	131	c.72delC	c.(70-72)cccfs	p.P24fs	PDE4C_ENST00000594465.3_Intron|PDE4C_ENST00000355502.3_Intron|PDE4C_ENST00000594617.3_Intron	NM_001098818.2	NP_001092288.1	Q08493	PDE4C_HUMAN	phosphodiesterase 4C, cAMP-specific						signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	33					Dyphylline(DB00651)	TGAAGAGCCCGGGGGAGCCGC	0.741													-	18337154	G	-	18337154	7	5	610	1	0	1	0	1	0	0	0	0	11717	1103	39	0	2030	0	PDE4C	19	18337154	Frame_Shift_Del	DEL	G	TCGA-HT-A74H-01A-11D-A32B-08	8112408	18337154	40791829	53	50676											
FBL	2091	broad.mit.edu	37	chr19	40331409	40331409	+	Frame_Shift_Del	DEL	C	C	-																															cccctcggccgccaaagccaCccccacggggactgaatcct																										TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40331409delC	ENST00000221801.3	-	2	142	c.29delG	c.(28-30)ggtfs	p.G11fs		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	11	DMA/Gly-rich.				rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		GCCAAAGCCACCCCCACGGGG	0.607													-	40331409	C	-	40331409	7	5	610	1	0	1	0	1	0	0	0	0	5745	507	18	0	968	0	FBL	19	40331409	Frame_Shift_Del	DEL	C	TCGA-HT-A74H-01A-11D-A32B-08	21994255	40331409	18797574	54	50677											
PRX	57716	broad.mit.edu	37	chr19	40900052	40900052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgggtgacttctctctgaCgggggacttgggggctgcat	4	12	16	9	1	2	2	0	2	2	0	3	3	2	3	0	5	1	2	0	5	0	3	rs139051512		TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:40900052C>T	ENST00000324001.7	-	7	4477	c.4207G>A	c.(4207-4209)Gtc>Atc	p.V1403I	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	1403					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.V1403I(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TTCTCTCTGACGGGGGACTTG	0.692													T	40900052	C	T	40900052	3	4	610	1	0	0	0	0	1	0	0	0	12727	536	19	1	182	1	PRX	19	40900052	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	568643	40900052	18228931	55	50678											
NLRP7	199713	broad.mit.edu	37	chr19	55451248	55451248	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttacgtagatcggctgctgCgccaggagctggaggtccct	6	9	14	12	3	0	1	0	0	0	1	2	3	1	3	2	4	4	4	2	4	2	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:55451248C>T	ENST00000446217.1	-	6	1425	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	NLRP7_ENST00000448121.2_Silent_p.A313A|NLRP7_ENST00000592784.1_Silent_p.A313A|NLRP7_ENST00000590030.1_Silent_p.A313A|NLRP7_ENST00000340844.2_Silent_p.A313A|NLRP7_ENST00000588756.1_Silent_p.A313A|NLRP7_ENST00000328092.5_Silent_p.A313A			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	313	NACHT.						ATP binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		TCGGCTGCTGCGCCAGGAGCT	0.622													T	55451248	C	T	55451248	2	4	610	1	0	0	0	0	0	0	0	1	10558	755	27	1		1	NLRP7	19	55451248	Silent	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	14551196	55451248	3677735	56	50679											
NLRP11	204801	broad.mit.edu	37	chr19	56307589	56307589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgatttcttcacattcGctggctcgcaaatcacattt	9	13	8	11	3	3	0	2	0	1	0	5	2	3	0	0	2	0	3	0	2	1	4	rs116391886	by1000genomes	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:56307589G>A	ENST00000443188.1	-	8	2909	c.2199C>T	c.(2197-2199)agC>agT	p.S733S	NLRP11_ENST00000589093.1_Silent_p.S733S|NLRP11_ENST00000360133.3_Silent_p.S679S|NLRP11_ENST00000589824.2_Silent_p.S679S|NLRP11_ENST00000592953.1_Silent_p.S634S	NM_145007.3	NP_659444.2	P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	733							ATP binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CTTCACATTCGCTGGCTCGCA	0.443													A	56307589	G	A	56307589	2	1	610	1	0	0	0	0	0	0	0	1	10549	1078	38	1		1	NLRP11	19	56307589	Silent	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	856341	56307589	2821394	57	50680											
ZNF460	10794	broad.mit.edu	37	chr19	57802451	57802451	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaatgtttaatgagaattGcttccttgttcagcatgagc	11	14	10	6	0	1	2	1	2	0	1	2	4	2	3	1	1	3	4	1	1	3	6			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr19:57802451G>T	ENST00000360338.3	+	3	864	c.542G>T	c.(541-543)tGc>tTc	p.C181F	ZNF460_ENST00000537645.1_Missense_Mutation_p.C140F	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	181					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AATGAGAATTGCTTCCTTGTT	0.433													T	57802451	G	T	57802451	3	4	610	1	0	0	0	0	1	0	0	0	18025	1319	46	4	552	4	ZNF460	19	57802451	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	1494862	57802451	1326532	58	50681											
HSF2BP	11077	broad.mit.edu	37	chr21	44949704	44949704	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggtttgcaggcgggggttgCggctcttggacattgccagg	4	10	18	9	3	1	0	0	0	1	0	1	1	1	1	1	7	3	4	1	7	0	4	rs140530326	byFrequency	TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr21:44949704C>T	ENST00000291560.2	-	9	1266	c.935G>A	c.(934-936)cGc>cAc	p.R312H	HSF2BP_ENST00000542962.1_Missense_Mutation_p.R237H	NM_007031.1	NP_008962.1	O75031	HSF2B_HUMAN	heat shock transcription factor 2 binding protein	312					spermatogenesis|transcription from RNA polymerase II promoter	cytosol	binding			kidney(2)|large_intestine(3)|prostate(1)|skin(1)	7				STAD - Stomach adenocarcinoma(101;0.18)		GCGGGGGTTGCGGCTCTTGGA	0.592													T	44949704	C	T	44949704	3	4	610	1	0	0	0	0	1	0	0	0	7452	768	27	1	73	1	HSF2BP	21	44949704	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08		44949704	3180191	59	50682											
EIF4ENIF1	56478	broad.mit.edu	37	chr22	31845480	31845480	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	taaggccactcagaagattgGaagaagcaggtctctgaact	14	8	11	8	0	2	4	1	1	1	3	3	5	2	5	1	3	2	1	1	3	5	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:31845480G>A	ENST00000397525.1	-	12	1845	c.1622C>T	c.(1621-1623)tCc>tTc	p.S541F	EIF4ENIF1_ENST00000397523.1_Missense_Mutation_p.S517F|EIF4ENIF1_ENST00000344710.5_Missense_Mutation_p.S366F|EIF4ENIF1_ENST00000382180.2_Missense_Mutation_p.S196F|EIF4ENIF1_ENST00000330125.5_Missense_Mutation_p.S541F	NM_001164501.1	NP_001157973.1	Q9NRA8	4ET_HUMAN	eukaryotic translation initiation factor 4E nuclear import factor 1	541						nucleus	protein binding|protein transporter activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CAGAAGATTGGAAGAAGCAGG	0.478													A	31845480	G	A	31845480	3	1	610	1	0	0	0	0	1	0	0	0	5076	1174	41	2	1370	2	EIF4ENIF1	22	31845480	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08		31845480	19459086	60	50683											
TUBGCP6	85378	broad.mit.edu	37	chr22	50659379	50659379	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgctggcgttggacaCgtgcccgtgggtattccacc	5	10	13	13	3	0	1	0	1	0	0	1	2	1	2	4	3	2	3	4	3	1	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chr22:50659379C>T	ENST00000439308.2	-	16	3901	c.3409G>A	c.(3409-3411)Gtg>Atg	p.V1137M	TUBGCP6_ENST00000491449.1_5'UTR|TUBGCP6_ENST00000248846.5_Missense_Mutation_p.V1137M	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1137	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		GCGTTGGACACGTGCCCGTGG	0.622													T	50659379	C	T	50659379	3	4	610	1	0	0	0	0	1	0	0	0	16872	536	19	1	2090	1	TUBGCP6	22	50659379	Missense_Mutation	SNP	C	TCGA-HT-A74H-01A-11D-A32B-08	18813899	50659379	645187	61	50684											
VCX3A	51481	broad.mit.edu	37	chrX	6451822	6451822	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccatctcgctctcctgActcagtggttcctccacctg	4	14	6	17	1	4	1	1	1	3	0	9	1	7	1	5	1	0	2	5	1	0	2			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:6451822A>T	ENST00000381089.3	-	3	831	c.525T>A	c.(523-525)agT>agA	p.S175R	VCX3A_ENST00000398729.1_Missense_Mutation_p.S155R	NM_016379.3	NP_057463.2	Q9NNX9	VCX3_HUMAN	variable charge, X-linked 3A	175	8 X 10 AA tandem repeats of L-S-Q-E-S- [EQ]-V-E-E-P.|Glu-rich.				brain development	nucleolus				NS(1)|lung(2)|pancreas(1)	4						CGCTCTCCTGACTCAGTGGTT	0.587													T	6451822	A	T	6451822	3	4	610	1	0	0	0	0	1	0	0	0	17246	272	10	5	39	5	VCX3A	23	6451822	Missense_Mutation	SNP	A	TCGA-HT-A74H-01A-11D-A32B-08		6451822	148818738	62	50685											
MAGEE1	57692	broad.mit.edu	37	chrX	75649650	75649650	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggtaaccaaggcctccGtggactcagattctgagggt	9	9	13	10	1	2	2	1	1	1	1	3	3	3	3	3	4	1	1	3	4	3	3			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:75649650G>A	ENST00000361470.2	+	1	1605	c.1327G>A	c.(1327-1329)Gtg>Atg	p.V443M		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	443						dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CAAGGCCTCCGTGGACTCAGA	0.537													A	75649650	G	A	75649650	3	1	610	1	0	0	0	0	1	0	0	0	9260	1145	40	1	1329	1	MAGEE1	23	75649650	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	69197828	75649650	79620910	63	50686											
MAGEA10	4109	broad.mit.edu	37	chrX	151303923	151303923	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcaggaggaggaggaggaaGaggaggaggagggaaaagag	17	0	23	1	0	0	2	0	0	0	2	0	11	0	11	0	9	1	1	0	9	3	0			TCGA-HT-A74H-01A-11D-A32B-08	TCGA-HT-A74H-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	76c03738-63f8-41c8-9dfc-4dcf447f2b95	f03d1a78-0b2f-4725-8dd3-d31d00507dcd	g.chrX:151303923G>A	ENST00000370323.4	-	4	486	c.170C>T	c.(169-171)tCt>tTt	p.S57F	RP11-1007I13.4_ENST00000509345.2_RNA|MAGEA10_ENST00000244096.3_Missense_Mutation_p.S57F	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	57	Poly-Ser.									endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ggaggaggaagaggaggagga	0.562													A	151303923	G	A	151303923	3	1	610	1	0	0	0	0	1	0	0	0	9235	942	33	2	943	2	MAGEA10	23	151303923	Missense_Mutation	SNP	G	TCGA-HT-A74H-01A-11D-A32B-08	75654273	151303923	3966637	64	50687											
USP48	84196	broad.mit.edu	37	chr1	22016507	22016507	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caggaatgacgccaagggtgCctagggtggcacagtcatca	11	6	14	10	1	2	1	2	1	0	0	2	2	2	2	2	4	1	1	2	4	3	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:22016507C>T	ENST00000308271.9	-	24	3617	c.2969G>A	c.(2968-2970)gGc>gAc	p.G990D	USP48_ENST00000374732.3_Missense_Mutation_p.G476D|USP48_ENST00000529637.1_Missense_Mutation_p.G1002D|USP48_ENST00000400301.1_Missense_Mutation_p.G938D	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	990	Ubiquitin-like.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		GCCAAGGGTGCCTAGGGTGGC	0.383													T	22016507	C	T	22016507	3	4	611	1	0	0	0	0	1	0	0	0	17181	739	26	2	154	2	USP48	1	22016507	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		22016507	227234114	1	50688											
GPR61	83873	broad.mit.edu	37	chr1	110085791	110085791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtggccctcttcttcatGctcctgctggacttgactgc	3	15	9	14	0	4	1	1	1	3	0	5	2	5	2	2	2	3	2	2	2	0	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:110085791G>A	ENST00000527748.1	+	2	830	c.147G>A	c.(145-147)atG>atA	p.M49I	RP5-1160K1.8_ENST00000526411.1_RNA	NM_031936.4	NP_114142.3	Q9BZJ8	GPR61_HUMAN	G protein-coupled receptor 61	49						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(4)|lung(9)|stomach(1)|urinary_tract(1)	23		all_epithelial(167;2.83e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0426)|Colorectal(144;0.11)|Epithelial(280;0.128)|all cancers(265;0.132)|LUSC - Lung squamous cell carcinoma(189;0.228)		TCTTCTTCATGCTCCTGCTGG	0.602													A	110085791	G	A	110085791	3	1	611	1	0	0	0	0	1	0	0	0	6756	1319	46	2	149	2	GPR61	1	110085791	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	88069284	110085791	139164830	2	50689											
MIA3	375056	broad.mit.edu	37	chr1	222827800	222827800	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagctaagagcctccgtgTccactaaatgtaacctggaa	13	10	8	10	1	0	1	0	0	0	1	2	2	2	2	4	1	3	2	4	1	6	4			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr1:222827800T>C	ENST00000344922.5	+	17	4472	c.4447T>C	c.(4447-4449)Tcc>Ccc	p.S1483P	MIA3_ENST00000340535.7_Missense_Mutation_p.S361P|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.S1483P	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1483					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGCCTCCGTGTCCACTAAATG	0.373													C	222827800	T	C	222827800	3	2	611	1	0	0	0	0	1	0	0	0	9640	1667	58	3	4513	3	MIA3	1	222827800	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	112742009	222827800	26422821	3	50690											
NOP58	51602	broad.mit.edu	37	chr2	203165048	203165048	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtagataaagaggatgaaAttactgaaaagaaagccaaa	22	6	10	3	0	0	5	0	2	0	3	0	6	0	6	1	2	2	1	1	2	9	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:203165048A>G	ENST00000264279.5	+	13	1586	c.1360A>G	c.(1360-1362)Att>Gtt	p.I454V		NM_015934.3	NP_057018.1	Q9Y2X3	NOP58_HUMAN	NOP58 ribonucleoprotein	454	Lys-rich.				cell growth|rRNA processing|snRNP protein import into nucleus	box C/D snoRNP complex|Cajal body|cytoplasm|pre-snoRNP complex	protein binding|snoRNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(4)|lung(4)|prostate(2)	16						AGAGGATGAAATTACTGAAAA	0.333													G	203165048	A	G	203165048	3	3	611	1	0	0	0	0	1	0	0	0	10616	101	4	3	1410	3	NOP58	2	203165048	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		203165048	40034325	4	50691											
ZDBF2	57683	broad.mit.edu	37	chr2	207173877	207173877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattatgaagtaatttcagAtgatattccccttcagttag	12	16	7	6	0	2	4	2	3	0	1	3	4	3	4	2	0	0	2	2	0	5	7			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr2:207173877A>G	ENST00000374423.3	+	5	5011	c.4625A>G	c.(4624-4626)gAt>gGt	p.D1542G		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	1542							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GTAATTTCAGATGATATTCCC	0.398													G	207173877	A	G	207173877	3	3	611	1	0	0	0	0	1	0	0	0	17700	333	12	3	4635	3	ZDBF2	2	207173877	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	4008829	207173877	36025496	5	50692											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	611	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	1939235	209113112	34086261	6	50693											
SETD5	55209	broad.mit.edu	37	chr3	9476055	9476055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacctgaatggcctgccgtCgcctgtagaggaacgctgtg	7	9	14	11	3	0	3	0	2	0	1	1	4	0	4	4	2	2	2	4	2	3	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:9476055C>T	ENST00000402198.1	+	5	650	c.215C>T	c.(214-216)tCg>tTg	p.S72L	SETD5_ENST00000302463.6_5'UTR|SETD5_ENST00000406341.1_Missense_Mutation_p.S72L|SETD5_ENST00000407969.1_Missense_Mutation_p.S91L|SETD5_ENST00000402466.1_5'UTR	NM_001080517.1	NP_001073986.1	Q9C0A6	SETD5_HUMAN	SET domain containing 5	72										NS(2)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(3)|prostate(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.112)		GGCCTGCCGTCGCCTGTAGAG	0.552													T	9476055	C	T	9476055	3	4	611	1	0	0	0	0	1	0	0	0	14227	893	31	1	225	1	SETD5	3	9476055	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		9476055	188546375	7	50694											
CTNNB1	1499	broad.mit.edu	37	chr3	41274830	41274830	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatatcctttttaattttctAggtggaatgcaagctttagg	10	18	8	5	0	1	0	0	0	1	0	2	1	2	1	1	3	2	2	1	3	7	10			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:41274830A>G	ENST00000349496.5	+	8	1361		c.e8-1		CTNNB1_ENST00000396183.3_Splice_Site|CTNNB1_ENST00000396185.3_Splice_Site|CTNNB1_ENST00000405570.1_Splice_Site|CTNNB1_ENST00000453024.1_Splice_Site	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa						adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	TTAATTTTCTAGGTGGAATGC	0.408		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				G	41274830	A	G	41274830	5	3	611	1	0	0	0	0	0	0	1	0	4049	434	15	3	1106	3	CTNNB1	3	41274830	Splice_Site	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	31798775	41274830	156747600	8	50695											
MAP4	4134	broad.mit.edu	37	chr3	47957593	47957593	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctgagagtggtggaacaTctttggctggagtcacattg	8	14	13	6	0	3	1	1	1	2	1	3	4	3	3	0	4	1	1	0	4	1	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr3:47957593T>C	ENST00000426837.2	-	8	1862	c.1775A>G	c.(1774-1776)gAt>gGt	p.D592G	MAP4_ENST00000395734.3_Missense_Mutation_p.D575G|MAP4_ENST00000360240.6_Missense_Mutation_p.D575G|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	575					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		TGGTGGAACATCTTTGGCTGG	0.483													C	47957593	T	C	47957593	3	2	611	1	0	0	0	0	1	0	0	0	9333	1435	50	3	3145	3	MAP4	3	47957593	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	6682763	47957593	150064837	9	50696											
PDLIM3	27295	broad.mit.edu	37	chr4	186444599	186444599	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaccataagtgagtttctcCcctggaaataaaataaaatt	17	11	6	7	0	1	2	0	1	1	1	2	3	1	3	3	1	0	1	3	1	6	5			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr4:186444599C>T	ENST00000284767.5	-	3	314	c.247G>A	c.(247-249)Gga>Aga	p.G83R	PDLIM3_ENST00000284770.5_Splice_Site_p.G83R|PDLIM3_ENST00000284771.6_Splice_Site_p.G83R			Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	83	PDZ.					sarcomere	zinc ion binding			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		TGAGTTTCTCCCCTGGAAATA	0.343													T	186444599	C	T	186444599	5	4	611	1	0	0	0	0	0	0	1	0	11757	637	22	2	1063	2	PDLIM3	4	186444599	Splice_Site	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		186444599	4709677	10	50697											
PDE10A	10846	broad.mit.edu	37	chr6	165863791	165863791	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttgtctcctcctgtgtccaaCcgttgttctatatagctgtt	5	18	7	11	1	2	0	0	0	2	0	5	0	4	0	4	0	2	4	4	0	4	7	rs144686330		TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr6:165863791C>G	ENST00000366882.1	-	5	409	c.255G>C	c.(253-255)cgG>cgC	p.R85R	PDE10A_ENST00000539869.2_Silent_p.R95R|PDE10A_ENST00000354448.4_Silent_p.R85R			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	85					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	p.R85R(1)		breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Dipyridamole(DB00975)	CTGTGTCCAACCGTTGTTCTA	0.348													G	165863791	C	G	165863791	2	3	611	1	0	0	0	0	0	0	0	1	11706	494	18	4		4	PDE10A	6	165863791	Silent	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		165863791	5251276	11	50698											
TRIM56	81844	broad.mit.edu	37	chr7	100732118	100732118	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggagacaagcggtcccccCggatcaccgggctctgtccc	6	6	12	17	3	2	1	1	0	1	1	4	3	4	2	5	4	1	1	5	4	1	0			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:100732118C>T	ENST00000306085.6	+	3	1822	c.1525C>T	c.(1525-1527)Cgg>Tgg	p.R509W		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	509					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					GCGGTCCCCCCGGATCACCGG	0.652													T	100732118	C	T	100732118	3	4	611	1	0	0	0	0	1	0	0	0	16631	643	23	1	1527	1	TRIM56	7	100732118	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		100732118	58406545	12	50699											
PLXNA4	91584	broad.mit.edu	37	chr7	131866888	131866888	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccctccatgcttggcacGgatctgggggttctgtatga	5	13	12	11	1	2	1	0	1	2	0	4	2	4	2	2	4	1	4	2	4	1	4			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr7:131866888G>A	ENST00000359827.3	-	17	4182	c.3220C>T	c.(3220-3222)Cgt>Tgt	p.R1074C	PLXNA4_ENST00000321063.4_Missense_Mutation_p.R1074C			Q9HCM2	PLXA4_HUMAN	plexin A4	1074	IPT/TIG 3.					integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						TGCTTGGCACGGATCTGGGGG	0.542													A	131866888	G	A	131866888	3	1	611	1	0	0	0	0	1	0	0	0	12199	1116	39	1	2528	1	PLXNA4	7	131866888	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	31134770	131866888	27271775	13	50700											
ANKRD46	157567	broad.mit.edu	37	chr8	101542045	101542045	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtctgagaagaatcatttAcaaaaacatacgacattgtt	17	12	6	6	1	2	2	1	1	1	2	2	4	2	2	0	0	3	1	0	0	7	6			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr8:101542045A>G	ENST00000520311.1	-	3	820	c.17T>C	c.(16-18)gTa>gCa	p.V6A	ANKRD46_ENST00000519316.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000335659.3_Missense_Mutation_p.V6A|ANKRD46_ENST00000519597.1_Missense_Mutation_p.V6A|ANKRD46_ENST00000520552.1_Missense_Mutation_p.V6A	NM_001270378.1	NP_001257307.1	Q86W74	ANR46_HUMAN	ankyrin repeat domain 46	6						integral to membrane				kidney(1)|large_intestine(2)|lung(4)	7	all_cancers(14;5.07e-05)|all_epithelial(15;2.84e-07)|Lung NSC(17;0.000353)|all_lung(17;0.000998)		Epithelial(11;2.61e-11)|all cancers(13;5.03e-09)|OV - Ovarian serous cystadenocarcinoma(57;4.49e-06)|STAD - Stomach adenocarcinoma(118;0.0957)			AGAATCATTTACAAAAACATA	0.408													G	101542045	A	G	101542045	3	3	611	1	0	0	0	0	1	0	0	0	674	391	14	3	681	3	ANKRD46	8	101542045	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		101542045	44821977	14	50701											
UHRF2	115426	broad.mit.edu	37	chr9	6499916	6499916	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcccagtggaaccacaaaaAggccaatttcagatggtagg	15	6	11	9	0	1	1	1	0	0	1	1	2	1	2	3	4	2	1	3	4	5	2			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr9:6499916A>G	ENST00000276893.5	+	13	2158	c.1990A>G	c.(1990-1992)Agg>Ggg	p.R664G	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	664					cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		AACCACAAAAAGGCCAATTTC	0.433													G	6499916	A	G	6499916	3	3	611	1	0	0	0	0	1	0	0	0	17072	63	3	3	2040	3	UHRF2	9	6499916	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		6499916	134713515	15	50702											
AGAP7	653268	broad.mit.edu	37	chr10	51465603	51465603	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagcacaccattggaacAcagggtgacgtatttctttt	10	12	11	8	1	1	2	0	2	1	0	1	3	1	3	1	3	2	2	1	3	2	5			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr10:51465603A>C	ENST00000374095.5	-	7	978	c.853T>G	c.(853-855)Tgt>Ggt	p.C285G		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	285	PH.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						CCATTGGAACACAGGGTGACG	0.433													C	51465603	A	C	51465603	3	2	611	1	0	0	0	0	1	0	0	0	373	159	6	5	1142	5	AGAP7	10	51465603	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		51465603	84069144	16	50703											
CTSW	1521	broad.mit.edu	37	chr11	65650804	65650804	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggaggggatatgggcagAgacagtctcatcgcagtctc	11	7	15	8	1	2	2	1	0	2	2	5	5	2	4	0	4	0	2	0	4	1	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:65650804A>C	ENST00000528419.1	+	9	933	c.929A>C	c.(928-930)gAg>gCg	p.E310A	CTSW_ENST00000307886.3_Missense_Mutation_p.E310A			P56202	CATW_HUMAN	cathepsin W	310					immune response|proteolysis		cysteine-type endopeptidase activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		ATATGGGCAGAGACAGTCTCA	0.597													C	65650804	A	C	65650804	3	2	611	1	0	0	0	0	1	0	0	0	4075	304	11	5	963	5	CTSW	11	65650804	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		65650804	69355712	17	50704											
DHCR7	1717	broad.mit.edu	37	chr11	71152482	71152482	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatctgatacttgttcacAacccctgcagatgaaggatt	11	13	8	9	0	2	4	1	3	1	1	2	5	2	5	2	1	3	2	2	1	3	5			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:71152482A>C	ENST00000355527.3	-	6	693	c.417T>G	c.(415-417)gtT>gtG	p.V139V	DHCR7_ENST00000407721.2_Silent_p.V139V	NM_001163817.1|NM_001360.2	NP_001157289.1|NP_001351.2	Q9UBM7	DHCR7_HUMAN	7-dehydrocholesterol reductase	139					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|nuclear outer membrane	7-dehydrocholesterol reductase activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(1)|skin(1)	19					NADH(DB00157)	ACTTGTTCACAACCCCTGCAG	0.572									Smith-Lemli-Opitz syndrome				C	71152482	A	C	71152482	2	2	611	1	0	0	0	0	0	0	0	1	4516	117	5	5		5	DHCR7	11	71152482	Silent	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08	5501678	71152482	63854034	18	50705											
ST3GAL4	6484	broad.mit.edu	37	chr11	126283484	126283484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctttggctacccagacGcctacaacaagaagcagacc	12	5	9	15	2	0	3	0	0	0	3	0	3	0	3	4	2	4	3	4	2	5	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr11:126283484G>A	ENST00000526727.1	+	9	1230	c.856G>A	c.(856-858)Gcc>Acc	p.A286T	ST3GAL4_ENST00000444328.2_Missense_Mutation_p.A286T|ST3GAL4_ENST00000532243.1_Missense_Mutation_p.A285T|ST3GAL4_ENST00000530591.1_Missense_Mutation_p.A282T|ST3GAL4_ENST00000356132.4_Missense_Mutation_p.A292T|ST3GAL4_ENST00000227495.6_Missense_Mutation_p.A282T|ST3GAL4_ENST00000449406.2_Missense_Mutation_p.A275T|ST3GAL4_ENST00000534083.1_Missense_Mutation_p.A286T|ST3GAL4_ENST00000534457.1_Missense_Mutation_p.A281T|ST3GAL4_ENST00000392669.2_Missense_Mutation_p.A286T			Q11206	SIA4C_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 4	286					post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,3-sialyltransferase activity			endometrium(1)|large_intestine(2)|lung(5)|stomach(1)	9	all_hematologic(175;0.145)	Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.0739)|all_lung(97;0.0798)|all_neural(223;0.138)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0767)		CTACCCAGACGCCTACAACAA	0.592													A	126283484	G	A	126283484	3	1	611	1	0	0	0	0	1	0	0	0	15313	1087	38	1	878	1	ST3GAL4	11	126283484	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	55131002	126283484	8723032	19	50706											
LRRC43	254050	broad.mit.edu	37	chr12	122685179	122685179	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaggagaaagacaggaCggggaaaggagagaaagagc	19	0	19	3	1	0	4	0	0	0	4	0	10	0	8	0	6	1	0	0	6	4	0			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr12:122685179C>T	ENST00000339777.4	+	9	1620	c.1592C>T	c.(1591-1593)aCg>aTg	p.T531M	LRRC43_ENST00000537733.1_3'UTR|LRRC43_ENST00000425921.1_Missense_Mutation_p.T346M	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	531	Lys-rich.									NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		aaagacaggacggggaaagga	0.582													T	122685179	C	T	122685179	3	4	611	1	0	0	0	0	1	0	0	0	9071	536	19	1	1626	1	LRRC43	12	122685179	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		122685179	11166716	20	50707											
NEK5	341676	broad.mit.edu	37	chr13	52676316	52676316	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcggtctcgaggagatactTgaaagagctgagatatcaag	13	9	13	6	2	2	4	1	2	1	3	4	7	2	4	0	2	2	1	0	2	4	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr13:52676316T>G	ENST00000355568.4	-	10	861	c.722A>C	c.(721-723)cAa>cCa	p.Q241P		NM_199289.1	NP_954983.1	Q6P3R8	NEK5_HUMAN	NIMA-related kinase 5	241	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(11)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	39		Breast(56;0.00173)|Lung NSC(96;0.0168)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;3.7e-08)		AGGAGATACTTGAAAGAGCTG	0.413													G	52676316	T	G	52676316	3	3	611	1	0	0	0	0	1	0	0	0	10403	1812	63	5	1456	5	NEK5	13	52676316	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08		52676316	62493562	21	50708											
ZNF720	124411	broad.mit.edu	37	chr16	31766535	31766535	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcataccggagaaaaactttAcaaatgtaaatcatgtagca	18	10	6	7	1	2	1	2	0	0	1	2	2	2	1	1	1	4	3	1	1	8	5			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr16:31766535A>T	ENST00000399681.3	+	6	1402	c.923A>T	c.(922-924)tAc>tTc	p.Y308F	ZNF720_ENST00000531864.2_Intron|ZNF720_ENST00000539915.1_Intron|ZNF720_ENST00000316491.9_Intron|ZNF720_ENST00000534369.1_Intron			Q7Z2F6	ZN720_HUMAN	zinc finger protein 720	0					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding			endometrium(1)|kidney(1)|lung(1)|stomach(1)	4						GAAAAACTTTACAAATGTAAA	0.358													T	31766535	A	T	31766535	3	4	611	1	0	0	0	0	1	0	0	0	18222	406	14	5		5	ZNF720	16	31766535	Missense_Mutation	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		31766535	58588218	22	50709											
TP53	7157	broad.mit.edu	37	chr17	7578212	7578212	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcaccaccacactatgtcGaaaagtgtttctgtcatcca	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:7578212G>A	ENST00000420246.2	-	6	769	c.637C>T	c.(637-639)Cga>Tga	p.R213*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R213*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R213*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R213*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R213*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R213*|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213*(250)|p.R81*(21)|p.R120*(21)|p.0?(8)|p.?(5)|p.R213G(5)|p.R213fs*35(3)|p.R213fs*34(3)|p.D208_V216delDRNTFRHSV(1)|p.R120G(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.R81fs*>11(1)|p.D208fs*1(1)|p.R120fs*35(1)|p.R81G(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213R(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		ACACTATGTCGAAAAGTGTTT	0.532		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)			A	7578212	G	A	7578212	4	1	611	1	0	0	0	0	0	1	0	0	16482	1066	37	1	657	1	TP53	17	7578212	Nonsense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08		7578212	73616998	23	50710											
CACNA1G	8913	broad.mit.edu	37	chr17	48703526	48703526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacagcagcactcccgcaGccacagcaagatctccaagc	12	3	9	17	1	1	1	0	0	1	1	3	1	2	1	3	1	5	5	3	1	2	0			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:48703526G>A	ENST00000352832.5	+	34	6539	c.6167G>A	c.(6166-6168)aGc>aAc	p.S2056N	CACNA1G_ENST00000358244.5_Intron|CACNA1G_ENST00000507510.2_Missense_Mutation_p.S2138N|CACNA1G_ENST00000515765.1_Missense_Mutation_p.S2127N|CACNA1G_ENST00000514181.1_Missense_Mutation_p.S2065N|CACNA1G_ENST00000512389.1_Missense_Mutation_p.S2079N|CACNA1G_ENST00000510366.1_Missense_Mutation_p.S2038N|CACNA1G_ENST00000514079.1_Missense_Mutation_p.S2097N|CACNA1G_ENST00000515165.1_Missense_Mutation_p.S2090N|CACNA1G_ENST00000507609.1_Missense_Mutation_p.S2083N|CACNA1G_ENST00000502264.1_Missense_Mutation_p.S2112N|CACNA1G_ENST00000505165.1_Intron|CACNA1G_ENST00000513689.2_Missense_Mutation_p.S2093N|CACNA1G_ENST00000442258.2_Missense_Mutation_p.S2049N|CACNA1G_ENST00000354983.4_Missense_Mutation_p.S2149N|CACNA1G_ENST00000507336.1_Missense_Mutation_p.S2172N|CACNA1G_ENST00000510115.1_Missense_Mutation_p.S2104N|CACNA1G_ENST00000359106.5_Missense_Mutation_p.S2183N|CACNA1G_ENST00000503485.1_Missense_Mutation_p.S2056N|CACNA1G_ENST00000515411.1_Missense_Mutation_p.S2120N|CACNA1G_ENST00000514717.1_Missense_Mutation_p.S2033N|CACNA1G_ENST00000429973.2_Missense_Mutation_p.S2072N|CACNA1G_ENST00000360761.4_Missense_Mutation_p.S2067N|CACNA1G_ENST00000513964.1_Missense_Mutation_p.S2045N|CACNA1G_ENST00000507896.1_Intron	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2183					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CACTCCCGCAGCCACAGCAAG	0.657											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	48703526	G	A	48703526	3	1	611	1	0	0	0	0	1	0	0	0	2570	971	34	2	6965	2	CACNA1G	17	48703526	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	41125314	48703526	32491684	24	50711											
BZRAP1	9256	broad.mit.edu	37	chr17	56395723	56395723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagactctgccttcttggctGtccttcgagggaccccagtg	5	11	12	13	1	2	1	0	0	2	1	4	4	3	2	4	2	1	1	4	2	0	3			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr17:56395723G>A	ENST00000355701.3	-	14	2660	c.1790C>T	c.(1789-1791)aCa>aTa	p.T597I	BZRAP1_ENST00000343736.4_Missense_Mutation_p.T597I|BZRAP1_ENST00000268893.6_Missense_Mutation_p.T537I	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	597						mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CTTCTTGGCTGTCCTTCGAGG	0.617													A	56395723	G	A	56395723	3	1	611	1	0	0	0	0	1	0	0	0	1587	1377	48	2	3855	2	BZRAP1	17	56395723	Missense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	7692197	56395723	24799487	25	50712											
HNF4A	3172	broad.mit.edu	37	chr20	43042409	43042409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcctgccctccatcaatgCgctcctgcaggcggaggtcc	6	7	11	17	2	1	0	1	0	0	0	4	1	4	1	5	3	4	2	5	3	1	0	rs147342965	by1000genomes	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:43042409C>T	ENST00000316099.4	+	4	550	c.461C>T	c.(460-462)gCg>gTg	p.A154V	HNF4A_ENST00000443598.2_Missense_Mutation_p.A154V|HNF4A_ENST00000415691.2_Missense_Mutation_p.A154V|HNF4A_ENST00000457232.1_Missense_Mutation_p.A132V|HNF4A_ENST00000316673.4_Missense_Mutation_p.A132V|HNF4A_ENST00000609795.1_Missense_Mutation_p.A132V	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding			endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			TCCATCAATGCGCTCCTGCAG	0.632													T	43042409	C	T	43042409	3	4	611	1	0	0	0	0	1	0	0	0	7308	768	27	1	528	1	HNF4A	20	43042409	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08		43042409	19983111	26	50713											
ARFGEF2	10564	broad.mit.edu	37	chr20	47648590	47648590	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctaattcttctagtgttTgcagtgaagctcttgcctat	7	18	7	9	0	4	1	0	1	4	0	5	1	4	1	1	0	3	3	1	0	4	7	rs148821408	byFrequency	TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:47648590T>C	ENST00000371917.4	+	38	5068	c.5068T>C	c.(5068-5070)Tgc>Cgc	p.C1690R		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	1690					exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			TTCTAGTGTTTGCAGTGAAGC	0.383													C	47648590	T	C	47648590	3	2	611	1	0	0	0	0	1	0	0	0	856	1812	63	3	5218	3	ARFGEF2	20	47648590	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08	4606181	47648590	15376930	27	50714											
ZNF831	128611	broad.mit.edu	37	chr20	57829214	57829214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggaacttttccccacCatgacattgctacctctgtg	10	11	6	14	0	1	1	0	1	1	0	2	2	2	2	5	1	3	1	5	1	3	4			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr20:57829214C>A	ENST00000371030.2	+	5	4450	c.4450C>A	c.(4450-4452)Cat>Aat	p.H1484N		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1484						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					TTTTCCCCACCATGACATTGC	0.493													A	57829214	C	A	57829214	3	1	611	1	0	0	0	0	1	0	0	0	18284	594	21	4	4468	4	ZNF831	20	57829214	Missense_Mutation	SNP	C	TCGA-HT-A74J-01A-12D-A32B-08	10180624	57829214	5196306	28	50715											
ACO2	50	broad.mit.edu	37	chr22	41919937	41919937	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacccatgcctttgtcacgTccccagaggtgagactgccc	8	8	10	15	1	1	3	1	1	0	3	2	4	2	3	5	1	2	0	5	1	0	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chr22:41919937T>C	ENST00000396512.3	+	12	1566	c.1549T>C	c.(1549-1551)Tcc>Ccc	p.S517P	ACO2_ENST00000216254.4_Missense_Mutation_p.S492P			Q99798	ACON_HUMAN	aconitase 2, mitochondrial	492				T -> K (in Ref. 1; AAB38416).	citrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron ion binding|isocitrate hydro-lyase (cis-aconitate-forming) activity			breast(3)|endometrium(5)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	23						CTTTGTCACGTCCCCAGAGGT	0.617													C	41919937	T	C	41919937	3	2	611	1	0	0	0	0	1	0	0	0	147	1667	58	3	1520	3	ACO2	22	41919937	Missense_Mutation	SNP	T	TCGA-HT-A74J-01A-12D-A32B-08		41919937	9384629	29	50716											
PHKA2	5256	broad.mit.edu	37	chrX	18913286	18913286	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcgaggatgggaggacataAccatcgatggagagaccgtg	12	6	16	7	3	0	1	0	0	0	1	2	8	0	5	2	4	1	0	2	4	1	1			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:18913286A>T	ENST00000379942.4	-	31	3971	c.3306T>A	c.(3304-3306)ggT>ggA	p.G1102G	PHKA2_ENST00000481718.1_5'UTR	NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	1102					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GGAGGACATAACCATCGATGG	0.537													T	18913286	A	T	18913286	2	4	611	1	0	0	0	0	0	0	0	1	11921	30	2	5		5	PHKA2	23	18913286	Silent	SNP	A	TCGA-HT-A74J-01A-12D-A32B-08		18913286	136357274	30	50717											
ATRX	546	broad.mit.edu	37	chrX	76938029	76938029	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgctgcttcttaggaagtcGatctcttaattccatgatgg	8	16	9	8	1	2	1	0	1	2	0	5	3	3	2	1	2	2	2	1	2	3	5			TCGA-HT-A74J-01A-12D-A32B-08	TCGA-HT-A74J-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4d03da9a-4470-4f2d-b91c-846d869faa35	ec1475ec-7774-4f79-9d19-86805702d592	g.chrX:76938029G>A	ENST00000373344.5	-	9	2933	c.2719C>T	c.(2719-2721)Cga>Tga	p.R907*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R869*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	907					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)|p.R907*(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)	TTAGGAAGTCGATCTCTTAAT	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938029	G	A	76938029	4	1	611	1	0	0	0	0	0	1	0	0	1213	1066	37	1	4867	1	ATRX	23	76938029	Nonsense_Mutation	SNP	G	TCGA-HT-A74J-01A-12D-A32B-08	58024743	76938029	78332531	31	50718											
DNAJC6	9829	broad.mit.edu	37	chr1	65871611	65871611	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattgggtggaggattcccGcctctcagctcgccacagaa	8	8	13	12	2	1	1	1	0	1	1	4	4	2	4	3	4	1	1	3	4	1	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:65871611G>A	ENST00000395325.3	+	16	2272	c.2115G>A	c.(2113-2115)ccG>ccA	p.P705P	DNAJC6_ENST00000371069.4_Silent_p.P762P|DNAJC6_ENST00000263441.7_Silent_p.P692P	NM_014787.3	NP_055602.1	O75061	AUXI_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 6	705	Pro-rich.				cellular membrane organization|post-Golgi vesicle-mediated transport	cytosol	heat shock protein binding|protein tyrosine phosphatase activity|SH3 domain binding			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(22)|ovary(1)|prostate(2)|skin(1)	39						GAGGATTCCCGCCTCTCAGCT	0.537													A	65871611	G	A	65871611	2	1	612	1	0	0	0	0	0	0	0	1	4692	1074	38	1		1	DNAJC6	1	65871611	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		65871611	183379010	1	50719											
CELSR2	1952	broad.mit.edu	37	chr1	109815272	109815272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttcctagggaggagtccGcactgaaccctggccaaggg	9	7	13	12	1	1	1	0	1	1	0	3	3	3	3	4	4	1	1	4	4	3	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:109815272G>A	ENST00000271332.3	+	30	8126	c.8065G>A	c.(8065-8067)Gca>Aca	p.A2689T	CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2689					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		GGAGGAGTCCGCACTGAACCC	0.647													A	109815272	G	A	109815272	3	1	612	1	0	0	0	0	1	0	0	0	3252	1087	38	1	8183	1	CELSR2	1	109815272	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	43943661	109815272	139435349	2	50720											
PTGFRN	5738	broad.mit.edu	37	chr1	117487361	117487361	+	Frame_Shift_Del	DEL	G	G	-																															cccgccgagcctgagcctgcGggagggggagcccttcgagc																										TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:117487361delG	ENST00000393203.2	+	3	626	c.479delG	c.(478-480)cggfs	p.R160fs		NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	160	Ig-like C2-type 2.					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		CTGAGCCTGCGGGAGGGGGAG	0.751													-	117487361	G	-	117487361	7	5	612	1	0	1	0	1	0	0	0	0	12836	1116	39	0	489	0	PTGFRN	1	117487361	Frame_Shift_Del	DEL	G	TCGA-HT-A74K-01A-11D-A32B-08	7672089	117487361	131763260	3	50721											
OR10R2	343406	broad.mit.edu	37	chr1	158450457	158450457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgttttccacctgcgcctctCacctcagtgttgttattgtt	4	17	7	13	2	2	0	2	0	1	0	4	0	3	0	4	0	1	4	4	0	1	6			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:158450457C>T	ENST00000368152.1	+	1	790	c.790C>T	c.(790-792)Cac>Tac	p.H264Y	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	264					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					CTGCGCCTCTCACCTCAGTGT	0.478													T	158450457	C	T	158450457	3	4	612	1	0	0	0	0	1	0	0	0	10993	826	29	2	792	2	OR10R2	1	158450457	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	40963096	158450457	90800164	4	50722											
ITLN1	55600	broad.mit.edu	37	chr1	160851959	160851959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcacagaaggtctggtagaTaacaccattctcagtgcgga	12	9	11	9	1	3	2	2	0	2	2	4	3	3	3	1	3	2	1	1	3	3	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:160851959T>C	ENST00000326245.3	-	4	308	c.193A>G	c.(193-195)Atc>Gtc	p.I65V		NM_017625.2	NP_060095.2	Q8WWA0	ITLN1_HUMAN	intelectin 1 (galactofuranose binding)	65	Fibrinogen C-terminal.				positive regulation of glucose import|positive regulation of protein phosphorylation|response to nematode|signal transduction	anchored to membrane|brush border membrane|extracellular region|membrane raft	receptor binding|sugar binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	21	all_cancers(52;2.99e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTCTGGTAGATAACACCATTC	0.577													C	160851959	T	C	160851959	3	2	612	1	0	0	0	0	1	0	0	0	7968	1406	49	3	768	3	ITLN1	1	160851959	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	2401502	160851959	88398662	5	50723											
RASAL2	9462	broad.mit.edu	37	chr1	178427644	178427644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagagagccctgttcccAaagttagagcaatccagaga	14	6	10	11	0	0	4	0	0	0	4	2	6	2	4	4	0	2	3	4	0	3	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:178427644A>G	ENST00000448150.3	+	14	4002	c.3184A>G	c.(3184-3186)Aaa>Gaa	p.K1062E	RASAL2_ENST00000367649.3_Missense_Mutation_p.K1073E|RASAL2_ENST00000462775.1_Missense_Mutation_p.K932E	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	932					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CCCTGTTCCCAAAGTTAGAGC	0.562													G	178427644	A	G	178427644	3	3	612	1	0	0	0	0	1	0	0	0	13152	131	5	3	3309	3	RASAL2	1	178427644	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08	17575685	178427644	70822977	6	50724											
DISP1	84976	broad.mit.edu	37	chr1	223178729	223178729	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctttgtgcaccccatcacGcacatccaccactgtccctg	7	9	7	18	1	1	0	1	0	0	0	3	0	3	0	5	1	1	3	5	1	0	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:223178729G>A	ENST00000284476.6	+	8	4154	c.3990G>A	c.(3988-3990)acG>acA	p.T1330T		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	1330					diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.T1330T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		ACCCCATCACGCACATCCACC	0.557													A	223178729	G	A	223178729	2	1	612	1	0	0	0	0	0	0	0	1	4578	1074	38	1		1	DISP1	1	223178729	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	44751085	223178729	26071892	7	50725											
OBSCN	84033	broad.mit.edu	37	chr1	228511247	228511247	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagacatgggcgtctacCgctgcctggccgagaacagc	9	5	13	14	3	1	2	0	0	1	2	1	3	1	2	3	2	5	2	3	2	2	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:228511247C>T	ENST00000570156.2	+	67	18537	c.18463C>T	c.(18463-18465)Cgc>Tgc	p.R6155C	OBSCN_ENST00000366709.4_Missense_Mutation_p.R2317C|OBSCN_ENST00000366707.4_Missense_Mutation_p.R2832C|OBSCN_ENST00000422127.1_Missense_Mutation_p.R5198C|OBSCN_ENST00000284548.11_Missense_Mutation_p.R5198C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	5198	Ig-like 53.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCGTCTACCGCTGCCTGGC	0.572													T	228511247	C	T	228511247	3	4	612	1	0	0	0	0	1	0	0	0	10888	652	23	1	15810	1	OBSCN	1	228511247	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	5332518	228511247	20739374	8	50726											
OR2T3	343173	broad.mit.edu	37	chr1	248637377	248637377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgccggccacaggaaggcCttggccacctgctcctccca	6	5	11	19	2	0	0	0	0	0	0	2	1	2	1	8	4	1	1	8	4	1	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr1:248637377C>T	ENST00000359594.2	+	1	751	c.726C>T	c.(724-726)gcC>gcT	p.A242A		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	242					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACAGGAAGGCCTTGGCCACCT	0.567													T	248637377	C	T	248637377	2	4	612	1	0	0	0	0	0	0	0	1	11099	668	24	2		2	OR2T3	1	248637377	Silent	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	20126130	248637377	613244	9	50727											
MSGN1	343930	broad.mit.edu	37	chr2	17998326	17998326	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcggggaactcacagacCtccttaaccgcggcagagag	12	5	11	13	3	1	2	1	0	0	2	3	4	2	3	3	3	2	1	3	3	2	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:17998326C>A	ENST00000281047.3	+	1	564	c.541C>A	c.(541-543)Ctc>Atc	p.L181I		NM_001105569.1	NP_001099039.1	A6NI15	MSGN1_HUMAN	mesogenin 1	181					cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACTCACAGACCTCCTTAACCG	0.577													A	17998326	C	A	17998326	3	1	612	1	0	0	0	0	1	0	0	0	9945	681	24	4	543	4	MSGN1	2	17998326	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		17998326	225201047	10	50728											
DYSF	8291	broad.mit.edu	37	chr2	71871141	71871141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caaattctttgcctccatagGggagagggaaaagtgcggct	11	9	13	8	1	1	1	0	0	1	1	2	3	2	2	2	4	2	1	2	4	4	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:71871141G>A	ENST00000258104.3	+	41	4734	c.4457G>A	c.(4456-4458)gGg>gAg	p.G1486E	DYSF_ENST00000409762.1_Missense_Mutation_p.G1503E|DYSF_ENST00000429174.2_Missense_Mutation_p.G1507E|DYSF_ENST00000410020.3_Missense_Mutation_p.G1525E|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409651.1_Missense_Mutation_p.G1518E|DYSF_ENST00000394120.2_Missense_Mutation_p.G1487E|DYSF_ENST00000409582.3_Missense_Mutation_p.G1524E|DYSF_ENST00000409366.1_Missense_Mutation_p.G1508E|DYSF_ENST00000410041.1_Missense_Mutation_p.G1504E|DYSF_ENST00000413539.2_Missense_Mutation_p.G1517E|DYSF_ENST00000409744.1_Missense_Mutation_p.G1494E	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1486						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						GCCTCCATAGGGGAGAGGGAA	0.512													A	71871141	G	A	71871141	3	1	612	1	0	0	0	0	1	0	0	0	4898	1232	43	2	4878	2	DYSF	2	71871141	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	53872815	71871141	171328232	11	50729											
DCTN1	1639	broad.mit.edu	37	chr2	74595107	74595107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagtcacttactgctcatagCggtgtagcgtggcctgcagc	7	10	13	11	2	2	0	2	0	0	0	2	1	2	0	1	2	6	3	1	2	3	3	rs140523637		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:74595107C>T	ENST00000361874.3	-	17	2323	c.2006G>A	c.(2005-2007)cGc>cAc	p.R669H	DCTN1_ENST00000409438.1_Missense_Mutation_p.R535H|DCTN1_ENST00000495643.1_5'UTR|DCTN1_ENST00000409567.3_Missense_Mutation_p.R649H|DCTN1_ENST00000407639.2_Missense_Mutation_p.R535H|DCTN1_ENST00000394003.3_Missense_Mutation_p.R662H|DCTN1_ENST00000409240.1_Missense_Mutation_p.R632H|DCTN1_ENST00000409868.1_Missense_Mutation_p.R652H	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	669					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						CTGCTCATAGCGGTGTAGCGT	0.617													T	74595107	C	T	74595107	3	4	612	1	0	0	0	0	1	0	0	0	4340	768	27	1	1894	1	DCTN1	2	74595107	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	2723966	74595107	168604266	12	50730											
DPP4	1803	broad.mit.edu	37	chr2	162881325	162881325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtctcaccactaagcagtTccatcttccactggattcat	10	12	5	14	0	3	0	2	0	2	0	6	1	5	1	3	1	1	2	3	1	1	4			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:162881325T>C	ENST00000360534.3	-	11	1572	c.1012A>G	c.(1012-1014)Aac>Gac	p.N338D		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	338					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	ACTAAGCAGTTCCATCTTCCA	0.463													C	162881325	T	C	162881325	3	2	612	1	0	0	0	0	1	0	0	0	4768	1783	62	3	1352	3	DPP4	2	162881325	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	88286218	162881325	80318048	13	50731											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	612	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	46231787	209113112	34086261	14	50732											
OR5AC2	81050	broad.mit.edu	37	chr3	97806631	97806631	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaatgatatttatttttggTgcttttatacaaatacccac	12	18	4	7	0	0	1	0	1	0	0	0	1	0	1	1	1	3	1	1	1	7	10			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:97806631T>A	ENST00000358642.2	+	1	615	c.615T>A	c.(613-615)ggT>ggA	p.G205G		NM_054106.1	NP_473447.1	Q9NZP5	O5AC2_HUMAN	olfactory receptor, family 5, subfamily AC, member 2	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	28						TTATTTTTGGTGCTTTTATAC	0.299													A	97806631	T	A	97806631	2	1	612	1	0	0	0	0	0	0	0	1	11217	1683	59	5		5	OR5AC2	3	97806631	Silent	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		97806631	100215799	15	50733											
NDUFB5	4711	broad.mit.edu	37	chr3	179336258	179336258	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatagtcctgaaaagatatAtgaaagaacaatggccgtcc	16	9	9	7	1	0	5	0	3	0	2	2	5	2	5	3	1	1	0	3	1	8	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr3:179336258A>G	ENST00000493866.1	+	3	267	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	NDUFB5_ENST00000259037.3_Missense_Mutation_p.Y133C|NDUFB5_ENST00000472629.1_Missense_Mutation_p.Y121C|NDUFB5_ENST00000473500.1_3'UTR	NM_001199957.1	NP_001186886.1	O43674	NDUB5_HUMAN	NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 5, 16kDa	133					mitochondrial electron transport, NADH to ubiquinone|transport	integral to membrane|mitochondrial respiratory chain complex I	NADH dehydrogenase (ubiquinone) activity			endometrium(1)|lung(6)|skin(1)	8	all_cancers(143;9.62e-16)|Ovarian(172;0.0172)|Breast(254;0.191)		OV - Ovarian serous cystadenocarcinoma(80;5.98e-26)|GBM - Glioblastoma multiforme(14;0.0169)|BRCA - Breast invasive adenocarcinoma(182;0.18)		NADH(DB00157)	GAAAAGATATATGAAAGAACA	0.378													G	179336258	A	G	179336258	3	3	612	1	0	0	0	0	1	0	0	0	10360	449	16	3	416	3	NDUFB5	3	179336258	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08	81529627	179336258	18686172	16	50734											
UGT2B17	7367	broad.mit.edu	37	chr4	69433683	69433683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtagccaacagagaagcGgagactgtacagaaagggta	15	6	14	6	1	0	3	0	0	0	3	0	5	0	3	1	2	4	3	1	2	6	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr4:69433683G>A	ENST00000317746.2	-	1	562	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	174					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						ACAGAGAAGCGGAGACTGTAC	0.438													A	69433683	G	A	69433683	3	1	612	1	0	0	0	0	1	0	0	0	17061	1116	39	1	1096	1	UGT2B17	4	69433683	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		69433683	121720593	17	50735											
NPR3	4883	broad.mit.edu	37	chr5	32724855	32724855	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggagcatcatgctggtggCgcacaggcatggcatgacca	9	6	14	12	2	1	1	1	1	0	0	1	2	1	2	2	5	2	5	2	5	0	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:32724855C>T	ENST00000265074.8	+	2	1164	c.821C>T	c.(820-822)gCg>gTg	p.A274V	NPR3_ENST00000434067.2_Missense_Mutation_p.A58V|NPR3_ENST00000415685.2_Missense_Mutation_p.A58V|NPR3_ENST00000415167.2_Missense_Mutation_p.A274V	NM_000908.3|NM_001204375.1	NP_000899.1|NP_001191304.1	P17342	ANPRC_HUMAN	natriuretic peptide receptor C/guanylate cyclase C (atrionatriuretic peptide receptor C)	274					osteoclast proliferation|positive regulation of urine volume|regulation of blood pressure|regulation of osteoblast proliferation|skeletal system development	integral to membrane	hormone binding|natriuretic peptide receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	24					Nesiritide(DB04899)	ATGCTGGTGGCGCACAGGCAT	0.532													T	32724855	C	T	32724855	3	4	612	1	0	0	0	0	1	0	0	0	10672	768	27	1	827	1	NPR3	5	32724855	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		32724855	148190405	18	50736											
PIK3R1	5295	broad.mit.edu	37	chr5	67589156	67589158	+	In_Frame_Del	DEL	AAA	AAA	-																															ggggaaataacaaattaatcAaaatatttcatcgagatggg																										TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr5:67589156_67589158delAAA	ENST00000521381.1	+	10	1760_1762	c.1144_1146delAAA	c.(1144-1146)aaadel	p.K382del	PIK3R1_ENST00000396611.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.K382del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.K82del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.K382del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.K19del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.K112del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	382	SH2 1.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAATTAATCAAAATATTTCATC	0.32			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589158	AAA	-	67589156	7	5	612	1	0	1	0	1	0	0	0	0	11995	131	5	0	1308	0	PIK3R1	5	67589156	In_Frame_Del	DEL	AAA	TCGA-HT-A74K-01A-11D-A32B-08	34864301	67589156	113326104	19	50737											
HUS1B	135458	broad.mit.edu	37	chr6	656483	656483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggcaggcggatgctcgcGtcggaggcgcgcaggctggg	4	4	21	12	8	0	0	0	0	0	0	2	2	0	2	0	7	1	4	0	7	0	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:656483G>A	ENST00000380907.2	-	1	480	c.462C>T	c.(460-462)gaC>gaT	p.D154D	EXOC2_ENST00000448181.3_Intron|EXOC2_ENST00000230449.4_Intron	NM_148959.3	NP_683762.2	Q8NHY5	HUS1B_HUMAN	HUS1 checkpoint homolog b (S. pombe)	154										endometrium(3)|large_intestine(1)|lung(7)	11	Ovarian(93;0.0733)	Breast(5;0.00139)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.041)|BRCA - Breast invasive adenocarcinoma(62;0.0965)		GGATGCTCGCGTCGGAGGCGC	0.701													A	656483	G	A	656483	2	1	612	1	0	0	0	0	0	0	0	1	7518	1136	40	1		1	HUS1B	6	656483	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		656483	170458584	20	50738											
PHF3	23469	broad.mit.edu	37	chr6	64404570	64404570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggacaaccagttttacctCggagatcctcagaagaaaaa	15	8	9	9	1	1	3	1	0	0	3	3	5	2	4	3	2	2	1	3	2	5	2	rs139681301		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:64404570C>T	ENST00000262043.3	+	6	2936	c.2596C>T	c.(2596-2598)Cgg>Tgg	p.R866W	PHF3_ENST00000393387.1_Missense_Mutation_p.R866W			Q92576	PHF3_HUMAN	PHD finger protein 3	866					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding	p.R866R(1)		breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			AGTTTTACCTCGGAGATCCTC	0.403													T	64404570	C	T	64404570	3	4	612	1	0	0	0	0	1	0	0	0	11913	875	31	1	2614	1	PHF3	6	64404570	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	63748087	64404570	106710497	21	50739											
VGLL2	245806	broad.mit.edu	37	chr6	117593623	117593623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttggtttgcagctcgtcGttattccctctgtggtgcat	4	17	10	10	2	2	0	0	0	2	0	5	0	3	0	1	2	3	5	1	2	1	4			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:117593623G>A	ENST00000326274.5	+	4	1110	c.920G>A	c.(919-921)cGt>cAt	p.R307H	VGLL2_ENST00000352536.3_Missense_Mutation_p.R133H	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	307					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		GCAGCTCGTCGTTATTCCCTC	0.532													A	117593623	G	A	117593623	3	1	612	1	0	0	0	0	1	0	0	0	17261	1145	40	1	934	1	VGLL2	6	117593623	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	53189053	117593623	53521444	22	50740											
ECT2L	345930	broad.mit.edu	37	chr6	139186182	139186182	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaaggccccctcttccatCtacttctgcgaatcgaagct	9	10	8	14	2	3	0	0	0	3	0	5	3	4	1	3	2	3	1	3	2	4	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr6:139186182C>G	ENST00000423192.1	+	11	1502	c.1341C>G	c.(1339-1341)atC>atG	p.I447M	ECT2L_ENST00000541398.1_Missense_Mutation_p.I378M|ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000367682.2_Missense_Mutation_p.I447M			Q008S8	ECT2L_HUMAN	epithelial cell transforming sequence 2 oncogene-like	447					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						CCTCTTCCATCTACTTCTGCG	0.453			"N, Splice, Mis"		ETP ALL								G	139186182	C	G	139186182	3	3	612	1	0	0	0	0	1	0	0	0	4941	903	32	4	1379	4	ECT2L	6	139186182	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	21592559	139186182	31928885	23	50741											
NPC1L1	29881	broad.mit.edu	37	chr7	44575860	44575860	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccctgcagcccctacctcagCcatgaacgtgacctggaaca	10	6	8	17	1	1	2	1	2	0	0	1	3	1	3	6	1	6	1	6	1	3	1			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:44575860C>T	ENST00000289547.4	-	4	1904	c.1849G>A	c.(1849-1851)Gct>Act	p.A617T	NPC1L1_ENST00000546276.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000423141.1_Missense_Mutation_p.A617T|NPC1L1_ENST00000381160.3_Missense_Mutation_p.A617T	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	617					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CCTACCTCAGCCATGAACGTG	0.637													T	44575860	C	T	44575860	3	4	612	1	0	0	0	0	1	0	0	0	10647	739	26	2	2298	2	NPC1L1	7	44575860	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		44575860	114562803	24	50742											
LMTK2	22853	broad.mit.edu	37	chr7	97821950	97821950	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattgtcagaaaactttttaTttcttcaagagaaaaactta	17	15	4	5	0	3	2	2	0	1	2	3	3	3	2	0	0	2	0	0	0	8	7			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr7:97821950T>G	ENST00000297293.5	+	11	2466	c.2173T>G	c.(2173-2175)Ttt>Gtt	p.F725V		NM_014916.3	NP_055731.2	Q8IWU2	LMTK2_HUMAN	lemur tyrosine kinase 2	725					early endosome to late endosome transport|endocytic recycling|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation|receptor recycling|transferrin transport	early endosome|Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|recycling endosome	ATP binding|myosin VI binding|protein phosphatase inhibitor activity|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(25)|ovary(1)|pancreas(2)|skin(2)|stomach(3)	59	all_cancers(62;3.23e-09)|all_epithelial(64;7.65e-10)|Lung NSC(181;0.00902)|all_lung(186;0.0104)|Esophageal squamous(72;0.0125)					AAACTTTTTATTTCTTCAAGA	0.328													G	97821950	T	G	97821950	3	3	612	1	0	0	0	0	1	0	0	0	8920	1493	52	5	2215	5	LMTK2	7	97821950	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	53246090	97821950	61316713	25	50743											
BRD3	8019	broad.mit.edu	37	chr9	136901336	136901336	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttctccccgggcagccggTtgatgtccaggctaagctgg	5	9	14	13	2	1	1	0	1	1	0	3	1	2	1	4	4	2	5	4	4	1	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr9:136901336T>C	ENST00000303407.7	-	10	1939	c.1754A>G	c.(1753-1755)aAc>aGc	p.N585S	BRD3_ENST00000473349.1_5'UTR|BRD3_ENST00000371834.2_3'UTR	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	585						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		GGGCAGCCGGTTGATGTCCAG	0.592			T	C15orf55	lethal midline carcinoma of young people								C	136901336	T	C	136901336	3	2	612	1	0	0	0	0	1	0	0	0	1512	1725	60	3	438	3	BRD3	9	136901336	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		136901336	4312095	26	50744											
CUBN	8029	broad.mit.edu	37	chr10	16941019	16941019	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaagctattctgacattgTccatcaccgctggggattag	10	11	10	10	2	2	1	1	1	1	0	3	3	3	2	2	2	1	2	2	2	3	4			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr10:16941019T>C	ENST00000377833.4	-	54	8639	c.8574A>G	c.(8572-8574)ggA>ggG	p.G2858G		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2858	CUB 21.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCTGACATTGTCCATCACCGC	0.403													C	16941019	T	C	16941019	2	2	612	1	0	0	0	0	0	0	0	1	4084	1654	58	3		3	CUBN	10	16941019	Silent	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		16941019	118593728	27	50745											
MRGPRX3	117195	broad.mit.edu	37	chr11	18158872	18158872	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcatcgtttcccttgtcgcGctgacaggaaacgcggttgt	6	12	12	11	5	0	1	0	1	0	0	3	2	1	2	1	2	2	4	1	2	1	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:18158872G>A	ENST00000396275.2	+	3	484	c.123G>A	c.(121-123)gcG>gcA	p.A41A		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCCTTGTCGCGCTGACAGGAA	0.592													A	18158872	G	A	18158872	2	1	612	1	0	0	0	0	0	0	0	1	9844	1074	38	1		1	MRGPRX3	11	18158872	Silent	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		18158872	116847644	28	50746											
OR8H3	390152	broad.mit.edu	37	chr11	55890648	55890648	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaagccaagaaagtcttattCcttgggaagagatcaagtgg	15	9	11	6	0	2	2	1	0	1	2	3	4	3	3	2	2	1	0	2	2	6	3			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:55890648C>T	ENST00000313472.3	+	1	800	c.800C>T	c.(799-801)tCc>tTc	p.S267F		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					AAGTCTTATTCCTTGGGAAGA	0.378													T	55890648	C	T	55890648	3	4	612	1	0	0	0	0	1	0	0	0	11315	855	30	2	802	2	OR8H3	11	55890648	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	37731776	55890648	79115868	29	50747											
DAK	26007	broad.mit.edu	37	chr11	61109956	61109956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacggggaagctggtgtgCgccggataaaggtaggtggt	8	8	18	7	3	0	0	0	0	0	0	1	2	1	2	2	7	2	2	2	7	4	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr11:61109956C>T	ENST00000394900.3	+	8	908	c.679C>T	c.(679-681)Cgc>Tgc	p.R227C		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	227	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						AGCTGGTGTGCGCCGGATAAA	0.592													T	61109956	C	T	61109956	3	4	612	1	0	0	0	0	1	0	0	0	4262	768	27	1	705	1	DAK	11	61109956	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	5219308	61109956	73896560	30	50748											
ACSS3	79611	broad.mit.edu	37	chr12	81503360	81503360	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgtggaaggaatgcttaaCatttgttacaatgccgttga	11	15	10	5	1	0	1	0	1	0	0	0	3	0	3	1	2	4	3	1	2	5	5			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:81503360C>T	ENST00000548058.1	+	2	1243	c.333C>T	c.(331-333)aaC>aaT	p.N111N	RP11-543H12.1_ENST00000547123.1_RNA|ACSS3_ENST00000261206.3_Silent_p.N110N			Q9H6R3	ACSS3_HUMAN	acyl-CoA synthetase short-chain family member 3	111						mitochondrion	acetate-CoA ligase activity|ATP binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(7)|liver(3)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)	51						GAATGCTTAACATTTGTTACA	0.313													T	81503360	C	T	81503360	2	4	612	1	0	0	0	0	0	0	0	1	190	477	17	2		2	ACSS3	12	81503360	Silent	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08		81503360	52348535	31	50749											
CLIP1	6249	broad.mit.edu	37	chr12	122812878	122812878	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctgcttcttgctggctcTgttcagctttgacagtcatg	5	16	10	10	0	4	1	2	1	2	0	4	1	4	1	0	1	4	6	0	1	1	5			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr12:122812878T>C	ENST00000358808.2	-	15	3084	c.2930A>G	c.(2929-2931)cAg>cGg	p.Q977R	CLIP1_ENST00000361654.4_Missense_Mutation_p.Q866R|CLIP1_ENST00000545889.1_Missense_Mutation_p.Q563R|CLIP1_ENST00000537178.1_Missense_Mutation_p.Q942R|CLIP1_ENST00000540338.1_Missense_Mutation_p.Q988R|CLIP1_ENST00000302528.7_Missense_Mutation_p.Q977R	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	988					mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		TTGCTGGCTCTGTTCAGCTTT	0.403													C	122812878	T	C	122812878	3	2	612	1	0	0	0	0	1	0	0	0	3563	1580	55	3	1397	3	CLIP1	12	122812878	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08	41309518	122812878	11039017	32	50750											
BRCA2	675	broad.mit.edu	37	chr13	32907209	32907209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgatccaaactttaaaaaaGaaactgaagcctctgaaagt	18	9	6	8	0	1	4	0	3	1	1	2	4	2	4	2	0	3	0	2	0	7	2	rs138734772		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr13:32907209G>A	ENST00000544455.1	+	10	1821	c.1594G>A	c.(1594-1596)Gaa>Aaa	p.E532K	BRCA2_ENST00000380152.3_Missense_Mutation_p.E532K	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	532					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		CTTTAAAAAAGAAACTGAAGC	0.368			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A	32907209	G	A	32907209	3	1	612	1	0	0	0	0	1	0	0	0	1508	943	33	2	1628	2	BRCA2	13	32907209	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		32907209	82262669	33	50751											
HNF1B	6928	broad.mit.edu	37	chr17	36104728	36104728	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggctcggccccgctgccagGggacaggggcagcgtctcca	5	4	17	15	3	1	0	0	0	1	0	3	1	1	1	4	6	2	3	4	6	0	0			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr17:36104728G>T	ENST00000225893.4	-	1	509	c.148C>A	c.(148-150)Cct>Act	p.P50T	HNF1B_ENST00000561193.1_Missense_Mutation_p.P50T|HNF1B_ENST00000427275.2_Missense_Mutation_p.P50T|HNF1B_ENST00000560016.1_Missense_Mutation_p.P50T	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	50					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCGCTGCCAGGGGACAGGGGC	0.682													T	36104728	G	T	36104728	3	4	612	1	0	0	0	0	1	0	0	0	7307	1232	43	4	1561	4	HNF1B	17	36104728	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		36104728	45090482	34	50752											
ZNF91	7644	broad.mit.edu	37	chr19	23544148	23544148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acattctttacatttgtaggGtttctctctactatgaatta	10	19	5	7	0	3	1	0	1	3	0	4	1	3	1	0	1	2	2	0	1	6	9			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:23544148G>C	ENST00000300619.7	-	4	1838	c.1633C>G	c.(1633-1635)Ccc>Gcc	p.P545A	ZNF91_ENST00000397082.2_Missense_Mutation_p.P513A|ZNF91_ENST00000599743.1_Intron	NM_003430.2	NP_003421.2	Q05481	ZNF91_HUMAN	zinc finger protein 91	545						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding						all_lung(12;0.0349)|Lung NSC(12;0.0538)|all_epithelial(12;0.0611)				CATTTGTAGGGTTTCTCTCTA	0.328													C	23544148	G	C	23544148	3	2	612	1	0	0	0	0	1	0	0	0	18299	1261	44	4	1946	4	ZNF91	19	23544148	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08		23544148	35584835	35	50753											
GRWD1	83743	broad.mit.edu	37	chr19	48953645	48953645	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggtgtttgcgctgcggCggcttctgcaggtggtggag	3	11	20	7	3	1	0	0	0	1	0	1	2	1	2	0	7	3	4	0	7	0	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr19:48953645C>T	ENST00000253237.5	+	4	777	c.544C>T	c.(544-546)Cgg>Tgg	p.R182W		NM_031485.3	NP_113673.3	Q9BQ67	GRWD1_HUMAN	glutamate-rich WD repeat containing 1	182						nucleolus				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|stomach(1)	19		all_lung(116;0.000147)|Lung NSC(112;0.000251)|all_epithelial(76;0.000326)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000206)|all cancers(93;0.000207)|Epithelial(262;0.0125)|GBM - Glioblastoma multiforme(486;0.0222)		TGCGCTGCGGCGGCTTCTGCA	0.647													T	48953645	C	T	48953645	3	4	612	1	0	0	0	0	1	0	0	0	6866	759	27	1	558	1	GRWD1	19	48953645	Missense_Mutation	SNP	C	TCGA-HT-A74K-01A-11D-A32B-08	25409497	48953645	10175338	36	50754											
TPTE	7179	broad.mit.edu	37	chr21	10943011	10943011	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcgtagaagtcgaagtaaAtgtgtccatctaagaataaa	17	10	9	5	2	1	2	0	0	1	2	4	3	2	2	1	0	0	2	1	0	9	4			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr21:10943011A>T	ENST00000298232.7	-	11	889	c.522T>A	c.(520-522)caT>caA	p.H174Q	TPTE_ENST00000342420.5_Missense_Mutation_p.H154Q|TPTE_ENST00000361285.4_Missense_Mutation_p.H192Q|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	192					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTCGAAGTAAATGTGTCCATC	0.328													T	10943011	A	T	10943011	3	4	612	1	0	0	0	0	1	0	0	0	16531	98	4	5	1131	5	TPTE	21	10943011	Missense_Mutation	SNP	A	TCGA-HT-A74K-01A-11D-A32B-08		10943011	37186884	37	50755											
HMGXB4	10042	broad.mit.edu	37	chr22	35659135	35659136	+	Frame_Shift_Ins	INS	-	-	A																															ctggccgaagccaacgagagINSaaaaaacgttcttacaaaga																								rs79846609		TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:35659135_35659136insA	ENST00000216106.5	+	3	224_225	c.96_97insA	c.(97-99)aaafs	p.K33fs	HMGXB4_ENST00000444518.2_5'UTR	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	33					endosome to lysosome transport|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	NURF complex	DNA binding			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCCAACGAGAGAAAAAACGTTC	0.401													A	35659136	-	A	35659135	7	5	612	1	0	1	1	0	0	0	0	0	7294	933	33	0	102	0	HMGXB4	22	35659135	Frame_Shift_Ins	INS	-	TCGA-HT-A74K-01A-11D-A32B-08		35659135	15645431	38	50756											
DNAJB7	150353	broad.mit.edu	37	chr22	41257114	41257115	+	Frame_Shift_Ins	INS	-	-	T																															tttgcacctctttacgcttcINSttttttttcctcttaccacc																										TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:41257114_41257115insT	ENST00000307221.4	-	1	1015_1016	c.884_885insA	c.(883-885)aagfs	p.K295fs	XPNPEP3_ENST00000357137.4_Intron|XPNPEP3_ENST00000541156.1_Intron|XPNPEP3_ENST00000482652.1_Intron|XPNPEP3_ENST00000414396.1_Intron	NM_145174.1	NP_660157.1	Q7Z6W7	DNJB7_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 7	295	Poly-Lys.				protein folding		heat shock protein binding|unfolded protein binding			breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	10						CTTTACGCTTCTTTTTTTTCCT	0.381													T	41257115	-	T	41257114	7	5	612	1	0	1	1	0	0	0	0	0	4664	912	32	0	48	0	DNAJB7	22	41257114	Frame_Shift_Ins	INS	-	TCGA-HT-A74K-01A-11D-A32B-08	5597979	41257114	10047452	39	50757											
TBC1D22A	25771	broad.mit.edu	37	chr22	47287286	47287286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaccaggacacatacaGgcaggtgggaatcctttctt	11	10	10	10	0	2	0	1	0	1	0	3	2	3	2	2	4	1	2	2	4	2	4			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chr22:47287286G>A	ENST00000337137.4	+	6	999	c.833G>A	c.(832-834)aGg>aAg	p.R278K	TBC1D22A_ENST00000407381.3_Missense_Mutation_p.R219K|TBC1D22A_ENST00000406733.1_Missense_Mutation_p.R231K|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.R200K|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.R231K	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	278	Rab-GAP TBC.					intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		GACACATACAGGCAGGTGGGA	0.403													A	47287286	G	A	47287286	3	1	612	1	0	0	0	0	1	0	0	0	15708	1000	35	2	855	2	TBC1D22A	22	47287286	Missense_Mutation	SNP	G	TCGA-HT-A74K-01A-11D-A32B-08	6030172	47287286	4017280	40	50758											
ACSL4	2182	broad.mit.edu	37	chrX	108911384	108911384	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtccataaccctggccaaTtgggcagcagaagcagacat	13	6	10	12	0	0	2	0	0	0	2	1	2	1	2	3	2	3	3	3	2	3	2			TCGA-HT-A74K-01A-11D-A32B-08	TCGA-HT-A74K-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8f448f47-6b2f-403e-a474-bb14061167ad	808487c7-959f-429c-a322-da3d1f6c07c8	g.chrX:108911384T>C	ENST00000340800.2	-	12	1888	c.1384A>G	c.(1384-1386)Att>Gtt	p.I462V	ACSL4_ENST00000469796.2_Missense_Mutation_p.I462V|ACSL4_ENST00000348502.6_Missense_Mutation_p.I421V	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	462					fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Troglitazone(DB00197)	CCCTGGCCAATTGGGCAGCAG	0.498													C	108911384	T	C	108911384	3	2	612	1	0	0	0	0	1	0	0	0	179	1493	52	3	775	3	ACSL4	23	108911384	Missense_Mutation	SNP	T	TCGA-HT-A74K-01A-11D-A32B-08		108911384	46359176	41	50759											
KIAA1522	57648	broad.mit.edu	37	chr1	33235364	33235364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcactgtgctgggactccCgcagcatgtgcagaaggagc	9	6	15	11	1	0	1	0	0	0	1	1	4	1	3	1	2	5	5	1	2	1	0			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:33235364C>T	ENST00000401073.2	+	5	747	c.677C>T	c.(676-678)cCg>cTg	p.P226L	KIAA1522_ENST00000373480.1_Missense_Mutation_p.P167L|KIAA1522_ENST00000294521.3_Intron|KIAA1522_ENST00000373481.3_Missense_Mutation_p.P178L	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	167										breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				CTGGGACTCCCGCAGCATGTG	0.657													T	33235364	C	T	33235364	3	4	613	1	0	0	0	0	1	0	0	0	8296	652	23	1	695	1	KIAA1522	1	33235364	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		33235364	216015257	1	50760											
MACF1	23499	broad.mit.edu	37	chr1	39924150	39924150	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctttcatagagaaatccCgcagcggaggcagtatgttt	10	10	11	10	3	1	1	1	0	0	1	2	3	2	2	2	2	1	4	2	2	3	4			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:39924150C>T	ENST00000564288.1	+	90	21961	c.21184C>T	c.(21184-21186)Cgc>Tgc	p.R7062C	MACF1_ENST00000289893.4_Missense_Mutation_p.R5505C|MACF1_ENST00000539005.1_Missense_Mutation_p.R4873C|MACF1_ENST00000317713.7_Missense_Mutation_p.R5003C|MACF1_ENST00000567887.1_Missense_Mutation_p.R7099C|MACF1_ENST00000372915.3_Missense_Mutation_p.R6961C|MACF1_ENST00000361689.2_Missense_Mutation_p.R5003C|MACF1_ENST00000545844.1_Missense_Mutation_p.R5003C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6961	EF-hand 1.				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	p.R5505S(1)|p.R5003S(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGAGAAATCCCGCAGCGGAGG	0.468													T	39924150	C	T	39924150	3	4	613	1	0	0	0	0	1	0	0	0	9215	652	23	1	21500	1	MACF1	1	39924150	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	6688786	39924150	209326471	2	50761											
LY9	4063	broad.mit.edu	37	chr1	160786485	160786485	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggacgggggaaacactGtcatgtacacatggaccccg	11	6	14	10	2	1	0	1	0	0	0	1	4	1	4	2	5	2	1	2	5	2	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr1:160786485G>A	ENST00000368037.5	+	5	1288	c.1174G>A	c.(1174-1176)Gtc>Atc	p.V392I	LY9_ENST00000263285.6_Missense_Mutation_p.V392I|LY9_ENST00000368040.1_Missense_Mutation_p.V44I|LY9_ENST00000368041.2_Intron|LY9_ENST00000341032.4_Intron|LY9_ENST00000392203.4_Intron	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9		Ig-like C2-type 2.				cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GGGAAACACTGTCATGTACAC	0.557													A	160786485	G	A	160786485	3	1	613	1	0	0	0	0	1	0	0	0	9172	1377	48	2	1324	2	LY9	1	160786485	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08	120862335	160786485	88464136	3	50762											
MYO3B	140469	broad.mit.edu	37	chr2	171259406	171259406	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttggatatctttggattCgagaattttcagagaaattc	12	16	8	5	1	3	2	1	0	2	2	5	6	3	4	0	2	0	0	0	2	3	7			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:171259406C>T	ENST00000334231.6	+	19	2205	c.2205C>T	c.(2203-2205)ttC>ttT	p.F735F	MYO3B_ENST00000409044.3_Silent_p.F726F|MYO3B_ENST00000408978.4_Silent_p.F726F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	726	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						TCTTTGGATTCGAGAATTTTC	0.418													T	171259406	C	T	171259406	2	4	613	1	0	0	0	0	0	0	0	1	10153	883	31	1		1	MYO3B	2	171259406	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		171259406	71939967	4	50763											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	613	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	37853706	209113112	34086261	5	50764											
SLC22A13	9390	broad.mit.edu	37	chr3	38317561	38317561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtcttgggtggcctgatgtGtatcatcatcatcttcatcc	6	15	10	10	0	6	1	4	1	2	0	7	1	7	1	2	3	0	1	2	3	1	3			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:38317561G>T	ENST00000311856.4	+	7	1260	c.1211G>T	c.(1210-1212)tGt>tTt	p.C404F	SLC22A13_ENST00000450935.2_3'UTR	NM_004256.3	NP_004247.2	Q9Y226	S22AD_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 13	404						integral to plasma membrane	organic cation transmembrane transporter activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.0533)|Kidney(284;0.067)		GGCCTGATGTGTATCATCATC	0.597													T	38317561	G	T	38317561	3	4	613	1	0	0	0	0	1	0	0	0	14538	1377	48	4	1237	4	SLC22A13	3	38317561	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		38317561	159704869	6	50765											
SMC4	10051	broad.mit.edu	37	chr3	160149454	160149454	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaaaatatcactgcatccTatagaagataatcctattga	17	12	4	8	0	2	3	2	1	0	2	4	3	4	3	2	0	1	1	2	0	8	6			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr3:160149454T>A	ENST00000357388.3	+	21	3589	c.3138T>A	c.(3136-3138)ccT>ccA	p.P1046P	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000462787.1_Silent_p.P988P|SMC4_ENST00000469762.1_Silent_p.P1021P|SMC4_ENST00000360111.2_Silent_p.P988P|SMC4_ENST00000344722.5_Silent_p.P1046P	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	1046					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			CACTGCATCCTATAGAAGATA	0.313													A	160149454	T	A	160149454	2	1	613	1	0	0	0	0	0	0	0	1	14879	1509	53	5		5	SMC4	3	160149454	Silent	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08	121831893	160149454	37872976	7	50766											
GPR125	166647	broad.mit.edu	37	chr4	22390767	22390767	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctgctgcagttatgccGcaaacaatgatggggatacc	10	10	11	10	2	0	1	0	1	0	0	1	2	0	2	2	2	5	5	2	2	4	3	rs138178541	byFrequency	TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:22390767G>A	ENST00000334304.5	-	18	2936	c.2667C>T	c.(2665-2667)tgC>tgT	p.C889C	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	889					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.C889C(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CAGTTATGCCGCAAACAATGA	0.423													A	22390767	G	A	22390767	2	1	613	1	0	0	0	0	0	0	0	1	6693	1079	38	1		1	GPR125	4	22390767	Silent	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		22390767	168763509	8	50767											
ELOVL6	79071	broad.mit.edu	37	chr4	110972670	110972670	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagttaaccacacagcccaTcagcatctgagtgatctggg	11	9	10	11	0	3	2	1	2	2	0	3	2	3	2	2	1	3	3	2	1	2	2			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr4:110972670T>G	ENST00000394607.3	-	5	785	c.622A>C	c.(622-624)Atg>Ctg	p.M208L	ELOVL6_ENST00000302274.3_Missense_Mutation_p.M208L			Q9H5J4	ELOV6_HUMAN	ELOVL fatty acid elongase 6	208					fatty acid elongation, saturated fatty acid|long-chain fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process		fatty acid elongase activity|protein binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	8				OV - Ovarian serous cystadenocarcinoma(123;0.00462)		ACACAGCCCATCAGCATCTGA	0.522													G	110972670	T	G	110972670	3	3	613	1	0	0	0	0	1	0	0	0	5119	1435	50	5	179	5	ELOVL6	4	110972670	Missense_Mutation	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08	88581903	110972670	80181606	9	50768											
NPR2	4882	broad.mit.edu	37	chr9	35801065	35801065	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctctatttccccttcAgctccactttcaaccctggc	6	13	6	16	0	3	0	2	0	1	0	6	0	5	0	4	2	2	1	4	2	2	4			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr9:35801065A>G	ENST00000342694.2	+	7	1606		c.e7-1			NM_003995.3	NP_003986.2	P20594	ANPRB_HUMAN	natriuretic peptide receptor B/guanylate cyclase B (atrionatriuretic peptide receptor B)						intracellular signal transduction|ossification|receptor guanylyl cyclase signaling pathway|regulation of blood pressure	integral to membrane|plasma membrane	GTP binding|guanylate cyclase activity|natriuretic peptide receptor activity|protein kinase activity|transmembrane receptor activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(2)|prostate(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	45	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)		Erythrityl Tetranitrate(DB01613)|Nesiritide(DB04899)	TTTCCCCTTCAGCTCCACTTT	0.507													G	35801065	A	G	35801065	5	3	613	1	0	0	0	0	0	0	1	0	10671	202	7	3	1376	3	NPR2	9	35801065	Splice_Site	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		35801065	105412366	10	50769											
PRKG1	5592	broad.mit.edu	37	chr10	53893606	53893606	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttcacatagggaagaTgtgagaacagcaaacgtaat	16	11	9	5	1	1	2	1	1	0	2	1	4	1	3	0	1	3	2	0	1	6	5			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:53893606T>C	ENST00000373980.4	+	8	1359	c.942T>C	c.(940-942)gaT>gaC	p.D314D	PRKG1_ENST00000373975.2_Silent_p.D17D|PRKG1_ENST00000373985.1_Silent_p.D287D|PRKG1_ENST00000401604.2_Silent_p.D299D	NM_006258.3	NP_006249.1	Q13976	KGP1_HUMAN	protein kinase, cGMP-dependent, type I	299					actin cytoskeleton organization|platelet activation|signal transduction	cytosol	ATP binding|cGMP binding|cGMP-dependent protein kinase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	53		all_cancers(4;2.13e-08)|all_epithelial(4;2.44e-08)|all_lung(4;0.000173)		all cancers(4;1.18e-05)|GBM - Glioblastoma multiforme(4;0.000359)|Epithelial(53;0.00532)|Lung(62;0.0606)		ATAGGGAAGATGTGAGAACAG	0.318													C	53893606	T	C	53893606	2	2	613	1	0	0	0	0	0	0	0	1	12608	1461	51	3		3	PRKG1	10	53893606	Silent	SNP	T	TCGA-HT-A74L-01A-11D-A32B-08		53893606	81641141	11	50770											
SPOCK2	9806	broad.mit.edu	37	chr10	73827469	73827469	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatctcccaggtcagccAggtcctgaccggtgcaagtc	7	7	12	15	2	2	1	1	1	1	0	5	2	3	1	5	3	2	1	5	3	1	0			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:73827469A>G	ENST00000373109.2	-	7	1055	c.611T>C	c.(610-612)cTg>cCg	p.L204P	SPOCK2_ENST00000536168.1_Missense_Mutation_p.L204P|SPOCK2_ENST00000317376.4_Missense_Mutation_p.L204P|SPOCK2_ENST00000460053.1_5'UTR	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	204					extracellular matrix organization|regulation of cell differentiation|signal transduction|synapse assembly	proteinaceous extracellular matrix	calcium ion binding			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CAGGTCAGCCAGGTCCTGACC	0.612													G	73827469	A	G	73827469	3	3	613	1	0	0	0	0	1	0	0	0	15176	188	7	3	683	3	SPOCK2	10	73827469	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08	19933863	73827469	61707278	12	50771											
VWA2	340706	broad.mit.edu	37	chr10	116049184	116049184	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggtccccgggattccctgatCcacgtggcagcttacgccga	6	8	12	15	4	0	1	0	1	0	0	3	3	3	2	5	3	2	2	5	3	1	2			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr10:116049184C>T	ENST00000603594.1	+	12	2379	c.2058C>T	c.(2056-2058)atC>atT	p.I686I	VWA2_ENST00000392982.3_Silent_p.I686I	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	686	VWFA 3.					extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ATTCCCTGATCCACGTGGCAG	0.627													T	116049184	C	T	116049184	2	4	613	1	0	0	0	0	0	0	0	1	17341	845	30	2		2	VWA2	10	116049184	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08	42221715	116049184	19485563	13	50772											
OR5R1	219479	broad.mit.edu	37	chr11	56185335	56185335	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatgcaggggactacagatgGcgacatagcaatcgtaggcc	13	6	13	9	2	0	1	0	0	0	1	1	3	0	2	1	4	3	3	1	4	5	3			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr11:56185335G>A	ENST00000312253.1	-	1	373	c.374C>T	c.(373-375)gCc>gTc	p.A125V		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					ACTACAGATGGCGACATAGCA	0.463													A	56185335	G	A	56185335	3	1	613	1	0	0	0	0	1	0	0	0	11256	1203	42	2	602	2	OR5R1	11	56185335	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08		56185335	78821181	14	50773											
NOS1	4842	broad.mit.edu	37	chr12	117701762	117701762	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgcctttccagacatgCgtgttccagggatcaggctg	6	12	13	10	1	1	1	1	0	0	1	3	2	3	2	3	3	2	2	3	3	0	3			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr12:117701762C>T	ENST00000317775.6	-	13	2839	c.2154G>A	c.(2152-2154)acG>acA	p.T718T	NOS1_ENST00000338101.4_Silent_p.T718T|NOS1_ENST00000344089.3_3'UTR	NM_000620.4|NM_001204218.1	NP_000611.1|NP_001191147.1	P29475	NOS1_HUMAN	nitric oxide synthase 1 (neuronal)	718					multicellular organismal response to stress|myoblast fusion|negative regulation of calcium ion transport into cytosol|neurotransmitter biosynthetic process|nitric oxide biosynthetic process|platelet activation|positive regulation of vasodilation|regulation of cardiac muscle contraction|response to heat|response to hypoxia	cytoskeleton|cytosol|dendritic spine|perinuclear region of cytoplasm|photoreceptor inner segment|sarcolemma|sarcoplasmic reticulum	arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)	L-Citrulline(DB00155)	TCCAGACATGCGTGTTCCAGG	0.592													T	117701762	C	T	117701762	2	4	613	1	0	0	0	0	0	0	0	1	10617	755	27	1		1	NOS1	12	117701762	Silent	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		117701762	16150133	15	50774											
USP14	9097	broad.mit.edu	37	chr18	197675	197675	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caacagaaattggaagcaatAgaggatgattctgttaaaga	18	9	10	4	0	1	4	0	1	1	3	1	6	1	6	0	2	2	2	0	2	7	4			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:197675A>G	ENST00000261601.7	+	8	745	c.654A>G	c.(652-654)atA>atG	p.I218M	USP14_ENST00000383589.2_Missense_Mutation_p.I172M|USP14_ENST00000582707.1_Missense_Mutation_p.I183M|USP14_ENST00000400266.3_Missense_Mutation_p.I207M	NM_005151.3	NP_005142.1	P54578	UBP14_HUMAN	ubiquitin specific peptidase 14 (tRNA-guanine transglycosylase)						regulation of chemotaxis|regulation of proteasomal protein catabolic process|ubiquitin-dependent protein catabolic process	cell surface|cytoplasmic membrane-bounded vesicle|plasma membrane|proteasome complex	cysteine-type endopeptidase activity|endopeptidase inhibitor activity|proteasome binding|tRNA guanylyltransferase activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|skin(2)	11		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				TGGAAGCAATAGAGGATGATT	0.308													G	197675	A	G	197675	3	3	613	1	0	0	0	0	1	0	0	0	17147	410	15	3	684	3	USP14	18	197675	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		197675	77879573	16	50775											
APCDD1	147495	broad.mit.edu	37	chr18	10487787	10487787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaatggaacaggatgcccggGggcgctatctgctgttcaac	10	8	13	10	2	2	0	1	0	1	0	2	2	2	2	1	4	4	3	1	4	4	2			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr18:10487787G>A	ENST00000355285.5	+	5	1651	c.1297G>A	c.(1297-1299)Ggg>Agg	p.G433R		NM_153000.4	NP_694545.1	Q8J025	APCD1_HUMAN	adenomatosis polyposis coli down-regulated 1						hair follicle development|negative regulation of Wnt receptor signaling pathway|Wnt receptor signaling pathway	integral to plasma membrane	Wnt-protein binding			NS(1)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22				READ - Rectum adenocarcinoma(15;0.08)		GGATGCCCGGGGGCGCTATCT	0.597													A	10487787	G	A	10487787	3	1	613	1	0	0	0	0	1	0	0	0	767	1232	43	2	1315	2	APCDD1	18	10487787	Missense_Mutation	SNP	G	TCGA-HT-A74L-01A-11D-A32B-08	10290112	10487787	67589461	17	50776											
MUC16	94025	broad.mit.edu	37	chr19	9089879	9089879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacacggagactgggacacCgttcgtggccagagtcaaat	12	6	13	10	3	1	3	1	0	0	3	2	5	1	4	2	3	0	1	2	3	1	1			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr19:9089879C>T	ENST00000397910.4	-	1	2139	c.1936G>A	c.(1936-1938)Ggt>Agt	p.G646S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	646	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.G646S(2)		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						ACTGGGACACCGTTCGTGGCC	0.562													T	9089879	C	T	9089879	3	4	613	1	0	0	0	0	1	0	0	0	10049	652	23	1	41923	1	MUC16	19	9089879	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		9089879	50039104	18	50777											
YWHAB	7529	broad.mit.edu	37	chr20	43532703	43532703	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttctacttgaaaatgAaaggagattattttaggtat	14	15	10	2	0	1	3	0	2	1	1	1	4	1	3	0	3	1	2	0	3	7	7			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chr20:43532703A>G	ENST00000372839.3	+	4	644	c.370A>G	c.(370-372)Aaa>Gaa	p.K124E	YWHAB_ENST00000479421.1_3'UTR|YWHAB_ENST00000353703.4_Missense_Mutation_p.K124E	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	124					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				CTTGAAAATGAAAGGAGATTA	0.328													G	43532703	A	G	43532703	3	3	613	1	0	0	0	0	1	0	0	0	17603	247	9	3	376	3	YWHAB	20	43532703	Missense_Mutation	SNP	A	TCGA-HT-A74L-01A-11D-A32B-08		43532703	19492817	19	50778											
PLP1	5354	broad.mit.edu	37	chrX	103045489	103045489	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgctgccacttacaactttgCcgtccttaaactcatgggcc	8	12	7	14	1	1	0	1	0	0	0	2	0	2	0	4	1	6	1	4	1	4	3			TCGA-HT-A74L-01A-11D-A32B-08	TCGA-HT-A74L-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a858a98-7ba6-482e-ae4b-0d55b308b392	a88c4c8f-c82c-433b-acae-b00d5623e077	g.chrX:103045489C>T	ENST00000418604.1	+	8	1077	c.797C>T	c.(796-798)gCc>gTc	p.A266V	PLP1_ENST00000361621.2_Missense_Mutation_p.A231V|PLP1_ENST00000466486.1_3'UTR|PLP1_ENST00000303958.2_Missense_Mutation_p.A266V	NM_001128834.1	NP_001122306.1	P60201	MYPR_HUMAN	proteolipid protein 1	266					cell death|synaptic transmission	integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	17						TACAACTTTGCCGTCCTTAAA	0.488													T	103045489	C	T	103045489	3	4	613	1	0	0	0	0	1	0	0	0	12181	739	26	2	823	2	PLP1	23	103045489	Missense_Mutation	SNP	C	TCGA-HT-A74L-01A-11D-A32B-08		103045489	52225071	20	50779											
HIVEP3	59269	broad.mit.edu	37	chr1	42048550	42048550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgttacattcgtagatcaccCcttttgttttcaaacccttc	8	17	4	12	1	2	1	2	0	0	1	4	1	2	1	3	0	2	3	3	0	3	8			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:42048550C>A	ENST00000372584.1	-	3	2933	c.1919G>T	c.(1918-1920)gGg>gTg	p.G640V	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G640V|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G640V|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G640V	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	640	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).				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)				GTAGATCACCCCTTTTGTTTT	0.473													A	42048550	C	A	42048550	3	1	614	1	0	0	0	0	1	0	0	0	7243	623	22	4	5325	4	HIVEP3	1	42048550	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		42048550	207202071	1	50780											
TTC13	79573	broad.mit.edu	37	chr1	231079620	231079620	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tactcggctcagttcgaacaGagcaagctcagcattcttaa	12	10	8	11	2	3	1	2	0	1	1	5	2	3	1	0	1	5	5	0	1	4	4			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr1:231079620G>C	ENST00000366661.4	-	6	611	c.604C>G	c.(604-606)Ctg>Gtg	p.L202V	TTC13_ENST00000366662.4_Intron|TTC13_ENST00000414259.1_Intron	NM_024525.4	NP_078801.3	Q8NBP0	TTC13_HUMAN	tetratricopeptide repeat domain 13	202							binding			central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	39	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)		COAD - Colon adenocarcinoma(196;0.243)		AGTTCGAACAGAGCAAGCTCA	0.413													C	231079620	G	C	231079620	3	2	614	1	0	0	0	0	1	0	0	0	16782	933	33	4	2050	4	TTC13	1	231079620	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	189031070	231079620	18171001	2	50781											
ANKRD36	375248	broad.mit.edu	37	chr2	97853077	97853077	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccattcaggctacaactgaCgaggaagactctgtttcgaa	12	10	9	10	2	2	2	1	1	1	1	4	5	3	3	1	2	2	2	1	2	4	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:97853077C>T	ENST00000420699.2	+	32	2326	c.2082C>T	c.(2080-2082)gaC>gaT	p.D694D	ANKRD36_ENST00000461153.2_Silent_p.D694D	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	694										endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						CTACAACTGACGAGGAAGACT	0.303													T	97853077	C	T	97853077	2	4	614	1	0	0	0	0	0	0	0	1	665	535	19	1		1	ANKRD36	2	97853077	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		97853077	145346296	3	50782											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000446179.1_Missense_Mutation_p.R132G|IDH1_ENST00000345146.2_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	614	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	111260036	209113113	34086260	4	50783											
CACNA2D2	9254	broad.mit.edu	37	chr3	50405102	50405102	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagactcgggtgatgccaccGtctgtggcagcgaacacggc	9	6	14	12	4	1	2	0	1	1	1	2	3	1	2	2	3	3	1	2	3	2	0			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:50405102G>A	ENST00000435965.1	-	27	2462	c.2289C>T	c.(2287-2289)gaC>gaT	p.D763D	CACNA2D2_ENST00000479441.1_Silent_p.D763D|CACNA2D2_ENST00000395083.1_Silent_p.D756D|CACNA2D2_ENST00000266039.3_Silent_p.D756D|CACNA2D2_ENST00000360963.3_Silent_p.D687D|XXcos-LUCA11.5_ENST00000606589.1_Intron|XXcos-LUCA11.4_ENST00000607362.1_RNA|XXcos-LUCA11.4_ENST00000607121.1_RNA|XXcos-LUCA11.4_ENST00000606259.1_RNA|XXcos-LUCA11.4_ENST00000606665.1_RNA|CACNA2D2_ENST00000424201.2_Silent_p.D756D|CACNA2D2_ENST00000423994.2_Silent_p.D763D|XXcos-LUCA11.4_ENST00000607088.1_RNA|CACNA2D2_ENST00000429770.1_Silent_p.D756D			Q9NY47	CA2D2_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 2	763					energy reserve metabolic process|regulation of insulin secretion	integral to membrane|plasma membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			breast(3)|cervix(1)|endometrium(4)|large_intestine(4)|lung(8)|ovary(2)|prostate(4)|skin(4)|urinary_tract(1)	31				BRCA - Breast invasive adenocarcinoma(193;0.000365)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)	Gabapentin(DB00996)	TGATGCCACCGTCTGTGGCAG	0.642													A	50405102	G	A	50405102	2	1	614	1	0	0	0	0	0	0	0	1	2575	1136	40	1		1	CACNA2D2	3	50405102	Silent	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		50405102	147617328	5	50784											
C3orf58	205428	broad.mit.edu	37	chr3	143708448	143708448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaagaaattctttgtgctcGtgccactgtggaccacaatt	12	12	8	9	1	1	1	0	0	1	1	2	2	1	2	2	1	2	1	2	1	4	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:143708448G>A	ENST00000315691.3	+	3	1593	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	C3orf58_ENST00000441925.2_Missense_Mutation_p.R115H|C3orf58_ENST00000495414.1_Missense_Mutation_p.R144H|C3orf58_ENST00000493396.1_Intron	NM_173552.3	NP_775823.1	Q8NDZ4	CC058_HUMAN	chromosome 3 open reading frame 58	353						COPI vesicle coat|extracellular region				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTTTGTGCTCGTGCCACTGTG	0.433													A	143708448	G	A	143708448	3	1	614	1	0	0	0	0	1	0	0	0	2257	1145	40	1	1102	1	C3orf58	3	143708448	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	93303346	143708448	54313982	6	50785											
ZDHHC19	131540	broad.mit.edu	37	chr3	195935376	195935376	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacaagcagcatgaagaagCggaagttgcggtgaccgatg	13	5	16	7	3	0	3	0	2	0	1	0	6	0	5	1	3	4	3	1	3	4	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr3:195935376C>T	ENST00000296326.3	-	4	543	c.464G>A	c.(463-465)cGc>cAc	p.R155H	ZDHHC19_ENST00000488508.1_5'UTR	NM_001039617.1	NP_001034706.1	Q8WVZ1	ZDH19_HUMAN	zinc finger, DHHC-type containing 19	155						integral to membrane	acyltransferase activity|zinc ion binding			breast(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(7)|ovary(3)	14	all_cancers(143;1.68e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;1.89e-25)|all cancers(36;1.46e-23)|OV - Ovarian serous cystadenocarcinoma(49;2.1e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0022)		CATGAAGAAGCGGAAGTTGCG	0.597													T	195935376	C	T	195935376	3	4	614	1	0	0	0	0	1	0	0	0	17710	768	27	1	481	1	ZDHHC19	3	195935376	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	52226928	195935376	2087054	7	50786											
GABRG1	2565	broad.mit.edu	37	chr4	46053576	46053576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagaaacaaagagatccatCgcagtcacataagaaacctt	19	6	6	10	1	1	3	1	0	0	3	3	4	2	3	2	0	2	1	2	0	4	2	rs143206194	byFrequency	TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr4:46053576C>T	ENST00000295452.4	-	8	1163	c.996G>A	c.(994-996)gcG>gcA	p.A332A		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	332					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)		AGAGATCCATCGCAGTCACAT	0.378													T	46053576	C	T	46053576	2	4	614	1	0	0	0	0	0	0	0	1	6223	871	31	1		1	GABRG1	4	46053576	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		46053576	145100700	8	50787											
CPVL	54504	broad.mit.edu	37	chr7	29160567	29160567	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatggctgtcctgagtcTcccttaggtggcatggaaac	10	11	11	9	0	1	1	0	1	1	0	3	2	2	2	2	4	1	2	2	4	4	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:29160567T>C	ENST00000409850.1	-	6	757	c.111A>G	c.(109-111)ggA>ggG	p.G37G	CPVL_ENST00000396276.3_Silent_p.G37G|CPVL_ENST00000488891.2_5'UTR|CPVL_ENST00000265394.5_Silent_p.G37G			Q9H3G5	CPVL_HUMAN	carboxypeptidase, vitellogenic-like	37					proteolysis		protein binding|serine-type carboxypeptidase activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)	28						GTCCTGAGTCTCCCTTAGGTG	0.463													C	29160567	T	C	29160567	2	2	614	1	0	0	0	0	0	0	0	1	3866	1538	54	3		3	CPVL	7	29160567	Silent	SNP	T	TCGA-HT-A74O-01A-11D-A32B-08		29160567	129978096	9	50788											
SEMA3C	10512	broad.mit.edu	37	chr7	80457916	80457916	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacactcaaagcttcttgActtatattgttaatattcag	12	17	4	8	0	3	1	2	1	1	0	3	1	3	1	0	0	2	2	0	0	6	9			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:80457916A>G	ENST00000265361.3	-	3	810	c.249T>C	c.(247-249)agT>agC	p.S83S	SEMA3C_ENST00000419255.2_Silent_p.S83S|SEMA3C_ENST00000536800.1_Intron|SEMA3C_ENST00000544525.1_Silent_p.S101S	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C	83	Sema.				immune response|response to drug	membrane	receptor activity			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						AAGCTTCTTGACTTATATTGT	0.313													G	80457916	A	G	80457916	2	3	614	1	0	0	0	0	0	0	0	1	14119	272	10	3		3	SEMA3C	7	80457916	Silent	SNP	A	TCGA-HT-A74O-01A-11D-A32B-08	51297349	80457916	78680747	10	50789											
MGAM	8972	broad.mit.edu	37	chr7	141795497	141795497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggagggcgtcactgttgtgCggcctctgctccatgagtga	5	10	15	11	3	2	2	1	2	1	0	3	3	3	3	2	3	2	2	2	3	0	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr7:141795497C>T	ENST00000475668.2	+	64	7645	c.7591C>T	c.(7591-7593)Cgg>Tgg	p.R2531W	MGAM_ENST00000549489.2_Missense_Mutation_p.R1635W			O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1635					polysaccharide digestion|starch catabolic process	apical plasma membrane|integral to membrane	carbohydrate binding|glucan 1,4-alpha-glucosidase activity|maltose alpha-glucosidase activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CACTGTTGTGCGGCCTCTGCT	0.468													T	141795497	C	T	141795497	3	4	614	1	0	0	0	0	1	0	0	0	9616	759	27	1	5061	1	MGAM	7	141795497	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	61337581	141795497	17343166	11	50790											
PREX2	80243	broad.mit.edu	37	chr8	69009322	69009322	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgagtctgacagtggaCaatgtccacctggaatatgg	11	10	12	8	0	1	2	0	2	1	0	2	4	2	4	2	3	0	0	2	3	3	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr8:69009322C>A	ENST00000288368.4	+	22	2716	c.2439C>A	c.(2437-2439)gaC>gaA	p.D813E	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	813					G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TGACAGTGGACAATGTCCACC	0.438													A	69009322	C	A	69009322	3	1	614	1	0	0	0	0	1	0	0	0	12563	477	17	4	2525	4	PREX2	8	69009322	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		69009322	77354700	12	50791											
SPIN1	10927	broad.mit.edu	37	chr9	91090141	91090141	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctccgtctatttcatcaaGtttgatgatgatttccatat	9	17	5	10	1	3	3	2	3	1	0	5	3	5	3	3	0	0	1	3	0	3	5			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:91090141G>C	ENST00000375859.3	+	6	1016	c.738G>C	c.(736-738)aaG>aaC	p.K246N	SPIN1_ENST00000469017.2_3'UTR|SPIN1_ENST00000541629.1_Missense_Mutation_p.K246N	NM_006717.2	NP_006708.2	Q9Y657	SPIN1_HUMAN	spindlin 1	246					cell cycle|gamete generation|multicellular organismal development	nucleus	methylated histone residue binding			endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	4						ATTTCATCAAGTTTGATGATG	0.383													C	91090141	G	C	91090141	3	2	614	1	0	0	0	0	1	0	0	0	15148	1020	36	4	756	4	SPIN1	9	91090141	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		91090141	50123290	13	50792											
HIATL1	84641	broad.mit.edu	37	chr9	97177508	97177508	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttccttgaattctttgcgtgGggcctgttgacaactccaat	7	15	9	10	1	1	2	0	2	1	0	3	2	3	2	3	2	2	1	3	2	3	5			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr9:97177508G>T	ENST00000375344.3	+	2	446	c.177G>T	c.(175-177)tgG>tgT	p.W59C	HIATL1_ENST00000428393.2_5'UTR	NM_032558.2	NP_115947.2	Q5SR56	HIAL1_HUMAN	hippocampus abundant transcript-like 1	59					transmembrane transport	integral to membrane|plasma membrane	protein binding|transporter activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)	11		Acute lymphoblastic leukemia(62;0.136)				TCTTTGCGTGGGGCCTGTTGA	0.393													T	97177508	G	T	97177508	3	4	614	1	0	0	0	0	1	0	0	0	7153	1241	43	4	183	4	HIATL1	9	97177508	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	6087367	97177508	44035923	14	50793											
OR8H3	390152	broad.mit.edu	37	chr11	55889935	55889935	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaggtccagatggctctgttTatgctatttctcctcatata	8	16	8	9	0	3	1	1	0	2	1	5	2	4	1	2	2	1	3	2	2	4	6			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:55889935T>A	ENST00000313472.3	+	1	87	c.87T>A	c.(85-87)ttT>ttA	p.F29L		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TGGCTCTGTTTATGCTATTTC	0.453													A	55889935	T	A	55889935	3	1	614	1	0	0	0	0	1	0	0	0	11315	1751	61	5	89	5	OR8H3	11	55889935	Missense_Mutation	SNP	T	TCGA-HT-A74O-01A-11D-A32B-08		55889935	79116581	15	50794											
VWA5A	4013	broad.mit.edu	37	chr11	123988900	123988900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctgtgcttctcaggcccGcaccaactatgagaaagcca	10	7	9	15	1	1	1	1	1	1	1	2	2	1	1	4	1	3	2	4	1	3	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr11:123988900G>A	ENST00000456829.2	+	5	502	c.251G>A	c.(250-252)cGc>cAc	p.R84H	VWA5A_ENST00000361352.5_Missense_Mutation_p.R84H|VWA5A_ENST00000392744.4_Missense_Mutation_p.R100H|VWA5A_ENST00000449321.1_Missense_Mutation_p.R84H|VWA5A_ENST00000392748.1_Missense_Mutation_p.R84H|VWA5A_ENST00000360334.4_Missense_Mutation_p.R84H	NM_001130142.1	NP_001123614.1	O00534	VMA5A_HUMAN	von Willebrand factor A domain containing 5A	84	VIT.									autonomic_ganglia(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	47						TCTCAGGCCCGCACCAACTAT	0.552													A	123988900	G	A	123988900	3	1	614	1	0	0	0	0	1	0	0	0	17344	1087	38	1	261	1	VWA5A	11	123988900	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	68098965	123988900	11017616	16	50795											
LRTM2	654429	broad.mit.edu	37	chr12	1940299	1940299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgccaagctgggctttcgCcaacctctccagcctgcagc	6	8	9	18	1	1	0	0	0	1	0	3	0	1	0	6	1	6	3	6	1	2	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:1940299C>T	ENST00000543818.1	+	4	1108	c.266C>T	c.(265-267)gCc>gTc	p.A89V	CACNA2D4_ENST00000585708.1_Intron|CACNA2D4_ENST00000588077.1_Intron|LRTM2_ENST00000535041.1_Missense_Mutation_p.A89V|LRTM2_ENST00000543730.1_Intron|CACNA2D4_ENST00000585732.1_Intron|CACNA2D4_ENST00000382722.5_Intron|LRTM2_ENST00000299194.1_Missense_Mutation_p.A89V|CACNA2D4_ENST00000586184.1_Intron|CACNA2D4_ENST00000587995.1_Intron	NM_001039029.2|NM_001163925.1|NM_001163926.1	NP_001034118.1|NP_001157397.1|NP_001157398.1	Q8N967	LRTM2_HUMAN	leucine-rich repeats and transmembrane domains 2	89						integral to membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	20	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.000834)			TGGGCTTTCGCCAACCTCTCC	0.622													T	1940299	C	T	1940299	3	4	614	1	0	0	0	0	1	0	0	0	9115	739	26	2	272	2	LRTM2	12	1940299	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		1940299	131911596	17	50796											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75763881	75763881	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagaaaatccatttctgaaGccaacggggagagcacctca	15	6	9	11	1	2	3	1	1	1	2	3	4	3	3	3	2	3	1	3	2	4	1			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr12:75763881G>C	ENST00000312442.2	+	5	673	c.627G>C	c.(625-627)aaG>aaC	p.K209N	GLIPR1L1_ENST00000378695.4_Missense_Mutation_p.K218N|CAPS2_ENST00000442339.2_Intron|GLIPR1L1_ENST00000548623.1_3'UTR	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	218						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						CATTTCTGAAGCCAACGGGGA	0.318													C	75763881	G	C	75763881	3	2	614	1	0	0	0	0	1	0	0	0	6498	962	34	4	645	4	GLIPR1L1	12	75763881	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	73823582	75763881	58088014	18	50797											
KIAA0895L	653319	broad.mit.edu	37	chr16	67210813	67210813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgccaagtcctgcatgaaGtggggcacccgggtattatc	8	9	13	11	2	0	1	0	1	0	0	2	1	1	1	3	3	2	3	3	3	4	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr16:67210813G>A	ENST00000290881.7	-	8	2243	c.1317C>T	c.(1315-1317)caC>caT	p.H439H	KIAA0895L_ENST00000563902.1_Silent_p.H439H|KIAA0895L_ENST00000561621.1_3'UTR|KIAA0895L_ENST00000563831.2_5'UTR			Q68EN5	K895L_HUMAN	KIAA0895-like	439										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						CCTGCATGAAGTGGGGCACCC	0.632													A	67210813	G	A	67210813	2	1	614	1	0	0	0	0	0	0	0	1	8256	1020	36	2		2	KIAA0895L	16	67210813	Silent	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08		67210813	23143940	19	50798											
TP53	7157	broad.mit.edu	37	chr17	7578547	7578549	+	In_Frame_Del	DEL	GGG	GGG	-																															aaaacatcttgttgagggcaGgggagtactgtaggaagagg																										TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:7578547_7578549delGGG	ENST00000420246.2	-	5	513_515	c.381_383delCCC	c.(379-384)tcccct>tct	p.P128del	TP53_ENST00000445888.2_In_Frame_Del_p.P128del|TP53_ENST00000359597.4_In_Frame_Del_p.P128del|TP53_ENST00000269305.4_In_Frame_Del_p.P128del|TP53_ENST00000413465.2_In_Frame_Del_p.P128del|TP53_ENST00000455263.2_In_Frame_Del_p.P128del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	128	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (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.0?(8)|p.P128S(7)|p.Y126_K132delYSPALNK(6)|p.Y126_N131delYSPALN(3)|p.P128L(3)|p.P128fs*42(3)|p.S127F(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.P128fs*18(1)|p.P128del(1)|p.Y126fs*11(1)|p.S127S(1)|p.S127_Q136del10(1)|p.P13fs*18(1)|p.P128A(1)|p.?(1)|p.S127fs*42(1)|p.Y126fs*18(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)		GTTGAGGGCAGGGGAGTACTGTA	0.557		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)			-	7578549	GGG	-	7578547	7	5	614	1	0	1	0	1	0	0	0	0	16482	1000	35	0	915	0	TP53	17	7578547	In_Frame_Del	DEL	GGG	TCGA-HT-A74O-01A-11D-A32B-08		7578547	73616663	20	50799											
LLGL2	3993	broad.mit.edu	37	chr17	73567853	73567853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaatggatgagcctgtgcGggcagagcagggtgagtgct	9	7	19	6	1	0	4	0	2	0	2	0	6	0	5	1	3	4	3	1	3	1	0			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr17:73567853G>A	ENST00000392550.3	+	18	2399	c.2282G>A	c.(2281-2283)cGg>cAg	p.R761Q	LLGL2_ENST00000167462.5_Missense_Mutation_p.R761Q|LLGL2_ENST00000577200.1_Missense_Mutation_p.R761Q	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	761					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			GAGCCTGTGCGGGCAGAGCAG	0.697													A	73567853	G	A	73567853	3	1	614	1	0	0	0	0	1	0	0	0	8895	1116	39	1	2383	1	LLGL2	17	73567853	Missense_Mutation	SNP	G	TCGA-HT-A74O-01A-11D-A32B-08	65989306	73567853	7627357	21	50800											
PTBP1	5725	broad.mit.edu	37	chr19	804864	804864	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcacagtgttgaagatcatCaccttcaccaagaacaacca	15	7	7	12	0	3	3	3	1	0	2	3	3	3	3	3	1	2	2	3	1	4	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:804864C>G	ENST00000356948.6	+	7	1065	c.642C>G	c.(640-642)atC>atG	p.I214M	PTBP1_ENST00000349038.4_Missense_Mutation_p.I214M|PTBP1_ENST00000350092.4_Intron|PTBP1_ENST00000394601.4_Missense_Mutation_p.I214M	NM_002819.4	NP_002810.1	P26599	PTBP1_HUMAN	polypyrimidine tract binding protein 1	214	RRM 2.				negative regulation of muscle cell differentiation|nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleolus|nucleoplasm	mRNA binding|nucleotide binding|poly-pyrimidine tract binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(4)	19		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		TGAAGATCATCACCTTCACCA	0.652													G	804864	C	G	804864	3	3	614	1	0	0	0	0	1	0	0	0	12810	816	29	4	668	4	PTBP1	19	804864	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		804864	58324119	22	50801											
C3	718	broad.mit.edu	37	chr19	6702552	6702552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaactcacttcgggaaaCgatgttctcttctgcaatga	10	12	10	9	2	3	1	1	1	2	0	5	4	3	3	0	2	3	2	0	2	3	3			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6702552C>T	ENST00000245907.6	-	18	2376	c.2284G>A	c.(2284-2286)Gtt>Att	p.V762I		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	762					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		CTTCGGGAAACGATGTTCTCT	0.532													T	6702552	C	T	6702552	3	4	614	1	0	0	0	0	1	0	0	0	2225	536	19	1	2803	1	C3	19	6702552	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	5897688	6702552	52426431	23	50802											
C3	718	broad.mit.edu	37	chr19	6718337	6718337	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggctgaccagcaccaccttCtccaccacttgggtcccgaa	9	7	8	17	1	1	1	0	1	1	0	3	2	2	1	6	2	1	2	6	2	1	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:6718337C>G	ENST00000245907.6	-	3	446	c.354G>C	c.(352-354)gaG>gaC	p.E118D		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	118					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GCACCACCTTCTCCACCACTT	0.612													G	6718337	C	G	6718337	3	3	614	1	0	0	0	0	1	0	0	0	2225	912	32	4	4793	4	C3	19	6718337	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	15785	6718337	52410646	24	50803											
MUC16	94025	broad.mit.edu	37	chr19	9057506	9057506	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acagttgagtgggtccttgcCaagggggctgttgttgtggc	5	12	17	7	0	0	1	0	1	0	0	1	1	1	1	2	4	1	4	2	4	1	4			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:9057506C>A	ENST00000397910.4	-	3	30143	c.29940G>T	c.(29938-29940)ttG>ttT	p.L9980F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9982	Ser-rich.|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						GGGTCCTTGCCAAGGGGGCTG	0.463													A	9057506	C	A	9057506	3	1	614	1	0	0	0	0	1	0	0	0	10049	593	21	4	13911	4	MUC16	19	9057506	Missense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	2339169	9057506	50071477	25	50804											
ZNF536	9745	broad.mit.edu	37	chr19	30935438	30935438	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccacgtggagaaggcacaCatcacggccgagtcggccca	11	3	13	14	4	1	1	1	0	0	1	2	3	1	1	3	4	1	1	3	4	1	0			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr19:30935438C>T	ENST00000355537.3	+	2	1116	c.969C>T	c.(967-969)caC>caT	p.H323H		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	323					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					AGAAGGCACACATCACGGCCG	0.657													T	30935438	C	T	30935438	2	4	614	1	0	0	0	0	0	0	0	1	18075	477	17	2		2	ZNF536	19	30935438	Silent	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08	21877932	30935438	28193545	26	50805											
PHF20	51230	broad.mit.edu	37	chr20	34451082	34451082	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacccttaaagacagaaaagCgacccaagcagcctgataaa	19	4	7	11	1	0	3	0	1	0	2	0	4	0	3	3	0	4	1	3	0	8	2			TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr20:34451082C>T	ENST00000374012.3	+	6	697	c.568C>T	c.(568-570)Cga>Tga	p.R190*	PHF20_ENST00000439301.1_Nonsense_Mutation_p.R190*|PHF20_ENST00000481202.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	190	Lys-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					GACAGAAAAGCGACCCAAGCA	0.383													T	34451082	C	T	34451082	4	4	614	1	0	0	0	0	0	1	0	0	11908	760	27	1	586	1	PHF20	20	34451082	Nonsense_Mutation	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		34451082	28574438	27	50806											
BAGE2	85319	broad.mit.edu	37	chr21	11098732	11098732	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccatcttactgctccggcCgccatcttactgctccagcc	5	10	7	19	3	2	0	0	0	2	0	4	0	4	0	6	1	5	2	6	1	2	2	rs73891536		TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chr21:11098732C>T	ENST00000470054.1	-	0	193									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ctgctccggccgccatcttac	0.632													T	11098732	C	T	11098732	1	4	614	0	1	0	0	0	0	0	0	0	1297	639	23	1		1	BAGE2	21	11098732	RNA	SNP	C	TCGA-HT-A74O-01A-11D-A32B-08		11098732	37031163	28	50807											
ATRX	546	broad.mit.edu	37	chrX	76888722	76888725	+	Frame_Shift_Del	DEL	TTTC	TTTC	-																															aaccaaagctttgttaaataTttctttaagtttccgactct																										TCGA-HT-A74O-01A-11D-A32B-08	TCGA-HT-A74O-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7d4fc290-2f99-4fcc-9698-b8523c6a7435	8f3e1444-e64e-4d48-9726-9314c1f85cd5	g.chrX:76888722_76888725delTTTC	ENST00000373344.5	-	19	5318_5321	c.5104_5107delGAAA	c.(5104-5109)gaaatafs	p.EI1702fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EI1664fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1702	Helicase ATP-binding.				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)	TTGTTAAATATTTCTTTAAGTTTC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76888725	TTTC	-	76888722	7	5	614	1	0	1	0	1	0	0	0	0	1213	1493	52	0	2439	0	ATRX	23	76888722	Frame_Shift_Del	DEL	TTTC	TCGA-HT-A74O-01A-11D-A32B-08		76888722	78381838	29	50808											
SKI	6497	broad.mit.edu	37	chr1	2161050	2161050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcgactcggccaactggcGggcctacatcctgctgagcc	6	8	11	16	3	0	1	0	1	0	0	3	2	1	1	4	3	4	1	4	3	2	2			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:2161050G>A	ENST00000378536.4	+	1	917	c.845G>A	c.(844-846)cGg>cAg	p.R282Q		NM_003036.3	NP_003027.1	P12755	SKI_HUMAN	v-ski avian sarcoma viral oncogene homolog	282					anterior/posterior axis specification|BMP signaling pathway|bone morphogenesis|cell motility|cell proliferation|embryonic limb morphogenesis|face morphogenesis|lens morphogenesis in camera-type eye|myelination in peripheral nervous system|myotube differentiation|negative regulation of activin receptor signaling pathway|negative regulation of BMP signaling pathway|negative regulation of fibroblast proliferation|negative regulation of osteoblast differentiation|negative regulation of Schwann cell proliferation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|neural tube closure|nose morphogenesis|olfactory bulb development|palate development|positive regulation of DNA binding|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway|protein homotrimerization|regulation of apoptosis|retina development in camera-type eye|skeletal muscle fiber development|SMAD protein signal transduction|somatic stem cell maintenance|transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|PML body|transcription factor complex|transcriptional repressor complex	histone deacetylase inhibitor activity|nucleotide binding|protein domain specific binding|protein kinase binding|repressing transcription factor binding|SMAD binding|transcription corepressor activity|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|kidney(2)|lung(5)|prostate(1)|stomach(1)	10	all_cancers(77;0.000139)|all_epithelial(69;4.45e-05)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)			Epithelial(90;2.14e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.72e-29)|GBM - Glioblastoma multiforme(42;2.45e-08)|Colorectal(212;5.33e-05)|COAD - Colon adenocarcinoma(227;0.000228)|Kidney(185;0.00268)|BRCA - Breast invasive adenocarcinoma(365;0.00471)|STAD - Stomach adenocarcinoma(132;0.0147)|KIRC - Kidney renal clear cell carcinoma(229;0.0385)|Lung(427;0.207)		GCCAACTGGCGGGCCTACATC	0.642													A	2161050	G	A	2161050	3	1	615	1	0	0	0	0	1	0	0	0	14451	1116	39	1	847	1	SKI	1	2161050	Missense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		2161050	247089571	1	50809											
C1orf168	199920	broad.mit.edu	37	chr1	57185712	57185712	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacttgaaatctagatgttcAatgagcacatatccatctaa	15	13	5	8	0	3	3	1	2	2	1	4	3	4	3	1	0	2	2	1	0	6	6			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr1:57185712A>G	ENST00000343433.6	-	19	2228	c.2148T>C	c.(2146-2148)atT>atC	p.I716I		NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	716										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CTAGATGTTCAATGAGCACAT	0.259													G	57185712	A	G	57185712	2	3	615	1	0	0	0	0	0	0	0	1	2032	126	5	3		3	C1orf168	1	57185712	Silent	SNP	A	TCGA-HW-7486-01A-11D-2024-08	55024662	57185712	192064909	2	50810											
SIX2	10736	broad.mit.edu	37	chr2	45236135	45236135	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgaaggtgctcgcaggCgggcagcgaccacaggaagc	9	5	16	11	3	0	1	0	1	0	0	1	3	0	2	1	4	3	3	1	4	2	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:45236135C>T	ENST00000303077.6	-	1	434	c.115G>A	c.(115-117)Gcc>Acc	p.A39T		NM_016932.4	NP_058628.3	Q9NPC8	SIX2_HUMAN	SIX homeobox 2	39						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(6)|large_intestine(3)|lung(8)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	22		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				TGCTCGCAGGCGGGCAGCGAC	0.647													T	45236135	C	T	45236135	3	4	615	1	0	0	0	0	1	0	0	0	14441	768	27	1	768	1	SIX2	2	45236135	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		45236135	197963238	3	50811											
TTN	7273	broad.mit.edu	37	chr2	179611497	179611497	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatttcacaccaggaacTggaagaccttcaacttcaac	14	9	5	13	0	3	1	3	0	0	1	3	3	3	3	3	2	4	0	3	2	5	4			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:179611497T>C	ENST00000360870.5	-	46	15852	c.15630A>G	c.(15628-15630)ccA>ccG	p.P5210P	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000589042.1_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8729	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACCAGGAACTGGAAGACCTT	0.368													C	179611497	T	C	179611497	2	2	615	1	0	0	0	0	0	0	0	1	16837	1567	55	3		3	TTN	2	179611497	Silent	SNP	T	TCGA-HW-7486-01A-11D-2024-08	134375362	179611497	63587876	4	50812											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	615	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08	29501615	209113112	34086261	5	50813											
XRCC5	7520	broad.mit.edu	37	chr2	216983868	216983868	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatagcttgaagaaatgTgacatctccctgcaattctt	12	14	6	9	0	3	3	1	2	2	1	4	3	3	3	1	0	2	2	1	0	4	5			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr2:216983868T>C	ENST00000392133.3	+	7	932	c.471T>C	c.(469-471)tgT>tgC	p.C157C	XRCC5_ENST00000392132.2_Silent_p.C157C			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	157	Leucine-zipper.				double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		TGAAGAAATGTGACATCTCCC	0.368								Non-homologous end-joining					C	216983868	T	C	216983868	2	2	615	1	0	0	0	0	0	0	0	1	17558	1702	59	3		3	XRCC5	2	216983868	Silent	SNP	T	TCGA-HW-7486-01A-11D-2024-08	7870756	216983868	26215505	6	50814											
GSK3B	2932	broad.mit.edu	37	chr3	119720905	119720905	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttaccttaaatctcttGtcctgcaatactttcttgat	9	19	3	10	0	2	1	0	1	2	0	4	1	3	1	2	0	3	1	2	0	5	7			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:119720905G>A	ENST00000264235.8	-	2	1252	c.270C>T	c.(268-270)gaC>gaT	p.D90D	GSK3B_ENST00000316626.5_Silent_p.D90D	NM_001146156.1|NM_002093.3	NP_001139628.1|NP_002084.2	P49841	GSK3B_HUMAN	glycogen synthase kinase 3 beta	90	Protein kinase.				axon guidance|epithelial to mesenchymal transition|ER overload response|glycogen metabolic process|hippocampus development|negative regulation of apoptosis|negative regulation of protein binding|negative regulation of protein complex assembly|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|positive regulation of cell-matrix adhesion|positive regulation of protein complex assembly|positive regulation of protein export from nucleus|positive regulation of Rac GTPase activity|regulation of microtubule-based process|superior temporal gyrus development	Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|nucleus|plasma membrane	ATP binding|beta-catenin binding|NF-kappaB binding|p53 binding|protein kinase A catalytic subunit binding|protein serine/threonine kinase activity|RNA polymerase II transcription factor binding|tau-protein kinase activity|ubiquitin protein ligase binding			endometrium(1)|large_intestine(8)|lung(7)|prostate(2)	18				GBM - Glioblastoma multiforme(114;0.24)	Lithium(DB01356)	TAAATCTCTTGTCCTGCAATA	0.338													A	119720905	G	A	119720905	2	1	615	1	0	0	0	0	0	0	0	1	6879	1368	48	2		2	GSK3B	3	119720905	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08		119720905	78301525	7	50815											
CASR	846	broad.mit.edu	37	chr3	122003579	122003579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagacccattcccacaGcccgagaggcagaagcagca	14	2	11	14	2	0	3	0	0	0	3	1	5	1	3	3	1	4	3	3	1	2	1			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr3:122003579G>A	ENST00000498619.1	+	7	3246	c.2808G>A	c.(2806-2808)caG>caA	p.Q936Q	CASR_ENST00000296154.5_Silent_p.Q926Q|CASR_ENST00000490131.1_Silent_p.Q926Q	NM_001178065.1	NP_001171536	P41180	CASR_HUMAN	calcium-sensing receptor	926					anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CATTCCCACAGCCCGAGAGGC	0.647													A	122003579	G	A	122003579	2	1	615	1	0	0	0	0	0	0	0	1	2708	962	34	2		2	CASR	3	122003579	Silent	SNP	G	TCGA-HW-7486-01A-11D-2024-08	2282674	122003579	76018851	8	50816											
TLR1	7096	broad.mit.edu	37	chr4	38799739	38799739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttggatttgtttgaagtttCgccagaatacttaggaagta	11	16	10	4	1	0	2	0	1	0	1	1	4	0	4	1	2	1	3	1	2	6	7	rs146940675		TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr4:38799739C>T	ENST00000308979.2	-	4	987	c.714G>A	c.(712-714)gcG>gcA	p.A238A	TLR1_ENST00000502213.2_Silent_p.A238A	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	238					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						TTTGAAGTTTCGCCAGAATAC	0.343													T	38799739	C	T	38799739	2	4	615	1	0	0	0	0	0	0	0	1	16049	871	31	1		1	TLR1	4	38799739	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08		38799739	152354537	9	50817											
RASA1	5921	broad.mit.edu	37	chr5	86675592	86675592	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatgaagatgtgaacaCtaatttaacacacctattga	20	10	5	6	0	0	4	0	3	0	1	0	4	0	4	1	0	2	0	1	0	8	5			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:86675592C>A	ENST00000456692.2	+	19	2112	c.1997C>A	c.(1996-1998)aCt>aAt	p.T666N	RASA1_ENST00000512763.1_Missense_Mutation_p.T676N|RASA1_ENST00000274376.6_Missense_Mutation_p.T843N|RASA1_ENST00000506290.1_Missense_Mutation_p.T677N	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	843	C2.				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)		GATGTGAACACTAATTTAACA	0.313													A	86675592	C	A	86675592	3	1	615	1	0	0	0	0	1	0	0	0	13148	565	20	4	2614	4	RASA1	5	86675592	Missense_Mutation	SNP	C	TCGA-HW-7486-01A-11D-2024-08		86675592	94239668	10	50818											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869610	140869610	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccgcctcaatgccactgAtccagacgagggcaccaacg	10	5	10	16	3	1	2	1	1	0	1	3	3	3	2	5	1	2	2	5	1	2	0			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr5:140869610A>G	ENST00000252087.1	+	1	803	c.803A>G	c.(802-804)gAt>gGt	p.D268G	PCDHGB4_ENST00000519479.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA12_ENST00000252085.3_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		268	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AATGCCACTGATCCAGACGAG	0.527													G	140869610	A	G	140869610	3	3	615	1	0	0	0	0	1	0	0	0	11647	333	12	3	805	3	PCDHGC5	5	140869610	Missense_Mutation	SNP	A	TCGA-HW-7486-01A-11D-2024-08	54194018	140869610	40045650	11	50819											
COL21A1	81578	broad.mit.edu	37	chr6	56044619	56044619	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctatcttagtcagaaatcGtgaggacttggcaaaaaggt	13	11	11	6	1	2	2	1	1	1	1	3	3	2	3	0	3	1	2	0	3	5	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:56044619G>A	ENST00000244728.5	-	3	794	c.397C>T	c.(397-399)Cga>Tga	p.R133*	COL21A1_ENST00000370819.1_Nonsense_Mutation_p.R133*|COL21A1_ENST00000535941.1_Nonsense_Mutation_p.R133*	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	133	VWFA.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			GTCAGAAATCGTGAGGACTTG	0.448													A	56044619	G	A	56044619	4	1	615	1	0	0	0	0	0	1	0	0	3711	1153	40	1	2588	1	COL21A1	6	56044619	Nonsense_Mutation	SNP	G	TCGA-HW-7486-01A-11D-2024-08		56044619	115070448	12	50820											
ALDH8A1	64577	broad.mit.edu	37	chr6	135239871	135239871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatgcagcaggattcatcCttaatgtctgttatcaccgt	9	14	8	10	1	4	0	3	0	1	0	5	1	5	1	2	1	2	3	2	1	2	3			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr6:135239871C>T	ENST00000265605.2	-	7	1214	c.1146G>A	c.(1144-1146)aaG>aaA	p.K382K	ALDH8A1_ENST00000367845.2_Silent_p.K328K|ALDH8A1_ENST00000367847.2_Silent_p.K332K	NM_022568.3	NP_072090.1	Q9H2A2	AL8A1_HUMAN	aldehyde dehydrogenase 8 family, member A1	382					retinal metabolic process	cytoplasm	retinal dehydrogenase activity			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	36	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.00401)|GBM - Glioblastoma multiforme(68;0.0058)		AGGATTCATCCTTAATGTCTG	0.498													T	135239871	C	T	135239871	2	4	615	1	0	0	0	0	0	0	0	1	505	680	24	2		2	ALDH8A1	6	135239871	Silent	SNP	C	TCGA-HW-7486-01A-11D-2024-08	79195252	135239871	35875196	13	50821											
ENOSF1	55556	broad.mit.edu	37	chr18	706562	706562	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgacgacataggcagccgagTagtcagggtccgtgtgctgc	8	8	15	10	3	1	1	1	1	0	0	2	3	2	1	2	2	3	3	2	2	2	2			TCGA-HW-7486-01A-11D-2024-08	TCGA-HW-7486-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	67f88cd9-ab77-4227-a8d7-5512246f9772	41e3896b-9b23-4a4d-b3b1-61c60c2638b0	g.chr18:706562T>C	ENST00000251101.7	-	2	189	c.101A>G	c.(100-102)tAc>tGc	p.Y34C	ENOSF1_ENST00000383578.3_5'UTR|ENOSF1_ENST00000539164.1_Missense_Mutation_p.Y34C|ENOSF1_ENST00000580982.1_Missense_Mutation_p.Y34C|ENOSF1_ENST00000340116.7_Missense_Mutation_p.Y55C|RP11-806L2.6_ENST00000580007.1_RNA	NM_017512.5	NP_059982.2	Q7L5Y1	ENOF1_HUMAN	enolase superfamily member 1	34					cellular amino acid catabolic process	mitochondrion	isomerase activity|metal ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	10						GGCAGCCGAGTAGTCAGGGTC	0.498													C	706562	T	C	706562	3	2	615	1	0	0	0	0	1	0	0	0	5166	1638	57	3	1290	3	ENOSF1	18	706562	Missense_Mutation	SNP	T	TCGA-HW-7486-01A-11D-2024-08		706562	77370686	14	50822											
CDKN2C	1031	broad.mit.edu	37	chr1	51439758	51439758	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagggaacctgcccttgcActtggctgccaaagaaggcc	10	7	12	12	0	0	2	0	1	0	1	0	3	0	3	4	3	4	2	4	3	4	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:51439758A>G	ENST00000262662.1	+	4	2357	c.323A>G	c.(322-324)cAc>cGc	p.H108R	CDKN2C_ENST00000396148.1_Missense_Mutation_p.H108R|CDKN2C_ENST00000371761.3_Missense_Mutation_p.H108R			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	108					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CTGCCCTTGCACTTGGCTGCC	0.552			D		"glioma, MM"								G	51439758	A	G	51439758	3	3	616	1	0	0	0	0	1	0	0	0	3195	159	6	3	329	3	CDKN2C	1	51439758	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		51439758	197810863	1	50823											
RAVER2	55225	broad.mit.edu	37	chr1	65268661	65268661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acttttattttctcaaagccGttcttggaacacctcacagc	10	14	5	12	1	3	0	2	0	2	0	4	1	3	1	2	1	3	1	2	1	3	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:65268661G>A	ENST00000294428.3	+	6	1186	c.1108G>A	c.(1108-1110)Gtt>Att	p.V370I	RAVER2_ENST00000371072.4_Missense_Mutation_p.V370I|RAVER2_ENST00000430964.2_Missense_Mutation_p.V76I			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	370						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						tCTCAAAGCCGTTCTTGGAAC	0.299													A	65268661	G	A	65268661	3	1	616	1	0	0	0	0	1	0	0	0	13183	1145	40	1	1130	1	RAVER2	1	65268661	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	13828903	65268661	183981960	2	50824											
FUBP1	8880	broad.mit.edu	37	chr1	78426058	78426059	+	Frame_Shift_Ins	INS	-	-	T																															ggcctggtggtccaggattaINStaaggtgcagggttgtatgg																										TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr1:78426058_78426059insT	ENST00000370767.1	-	15	1553_1554	c.1466_1467insA	c.(1465-1467)tatfs	p.Y489fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.Y489fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.Y510fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	489	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GTCCAGGATTATAAGGTGCAGG	0.545			"F, N"		oligodendroglioma								T	78426059	-	T	78426058	7	5	616	1	0	1	1	0	0	0	0	0	6144	456	16	0	491	0	FUBP1	1	78426058	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08	13157397	78426058	170824563	3	50825											
TTN	7273	broad.mit.edu	37	chr2	179433152	179433152	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaatactttcagcactgaCgtcatcaaatttaacaggtc	13	13	6	9	1	3	1	3	1	0	0	4	1	3	1	0	1	3	2	0	1	4	5			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr2:179433152C>T	ENST00000589042.1	-	326	77931	c.77707G>A	c.(77707-77709)Gtc>Atc	p.V25903I	TTN_ENST00000342992.6_Missense_Mutation_p.V23335I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V16963I|TTN_ENST00000460472.2_Missense_Mutation_p.V16838I|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V17030I|TTN_ENST00000591111.1_Missense_Mutation_p.V24262I|TTN-AS1_ENST00000590807.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	24262	Fibronectin type-III 88.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGCACTGACGTCATCAAAT	0.403													T	179433152	C	T	179433152	3	4	616	1	0	0	0	0	1	0	0	0	16837	536	19	1	30420	1	TTN	2	179433152	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		179433152	63766221	4	50826											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	616	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	29679960	209113112	34086261	5	50827											
ITPR1	3708	broad.mit.edu	37	chr3	4725122	4725122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggcggcagaacctttctcCgtgtcctgctccacttgacg	6	10	10	15	4	1	2	0	1	1	1	4	2	3	2	4	2	2	2	4	2	1	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:4725122C>T	ENST00000302640.8	+	26	3519	c.3169C>T	c.(3169-3171)Cgt>Tgt	p.R1057C	ITPR1_ENST00000423119.2_Missense_Mutation_p.R1063C|ITPR1_ENST00000544951.1_Intron|ITPR1_ENST00000456211.2_Missense_Mutation_p.R1048C|ITPR1_ENST00000443694.2_Missense_Mutation_p.R1057C|ITPR1_ENST00000357086.4_Missense_Mutation_p.R1063C|ITPR1_ENST00000354582.6_Missense_Mutation_p.R1072C	NM_001168272.1	NP_001161744.1	Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	1072					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		AACCTTTCTCCGTGTCCTGCT	0.582													T	4725122	C	T	4725122	3	4	616	1	0	0	0	0	1	0	0	0	7978	652	23	1	3312	1	ITPR1	3	4725122	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		4725122	193297308	6	50828											
MYLK	4638	broad.mit.edu	37	chr3	123419711	123419711	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagcacccctcgcacGtcctcgccgtcttcctcctc	3	11	5	22	4	3	0	1	0	2	0	9	0	6	0	6	0	1	2	6	0	0	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr3:123419711G>A	ENST00000360772.3	-	19	2982	c.2604C>T	c.(2602-2604)gaC>gaT	p.D868D	MYLK_ENST00000360304.3_Silent_p.D868D|MYLK_ENST00000346322.5_Silent_p.D799D|MYLK_ENST00000475616.1_Silent_p.D868D|MYLK_ENST00000359169.1_Silent_p.D868D			Q15746	MYLK_HUMAN	myosin light chain kinase	868	5 X 28 AA approximate tandem repeats.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCCCTCGCACGTCCTCGCCGT	0.652													A	123419711	G	A	123419711	2	1	616	1	0	0	0	0	0	0	0	1	10132	1136	40	1		1	MYLK	3	123419711	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	118694589	123419711	74602719	7	50829											
MARCH1	55016	broad.mit.edu	37	chr4	164450155	164450155	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacctcctgtgaagccaatGgctaccacaaccagttttgt	11	10	8	12	0	0	2	0	1	0	1	1	2	1	2	5	1	3	2	5	1	4	3			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr4:164450155G>C	ENST00000503008.1	-	8	1591	c.615C>G	c.(613-615)gcC>gcG	p.A205A	MARCH1_ENST00000274056.7_Silent_p.A205A|MARCH1_ENST00000514618.1_Silent_p.A461A|MARCH1_ENST00000339875.5_Silent_p.A188A	NM_001166373.1	NP_001159845.1	Q8TCQ1	MARH1_HUMAN	membrane-associated ring finger (C3HC4) 1, E3 ubiquitin protein ligase	205					antigen processing and presentation of peptide antigen via MHC class II|immune response	cytoplasmic vesicle membrane|early endosome membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|plasma membrane	MHC protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(20)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	36	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				TGAAGCCAATGGCTACCACAA	0.438													C	164450155	G	C	164450155	2	2	616	1	0	0	0	0	0	0	0	1	9373	1335	47	4		4	MARCH1	4	164450155	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		164450155	26704121	8	50830											
TIFAB	497189	broad.mit.edu	37	chr5	134785348	134785348	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcagggggacctgctcCaggtacctcagcgtcagccc	6	7	13	15	1	3	0	3	0	0	0	4	1	4	1	4	3	5	3	4	3	1	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:134785348C>T	ENST00000537858.1	-	2	482	c.282G>A	c.(280-282)ctG>ctA	p.L94L		NM_001099221.1	NP_001092691.1	Q6ZNK6	TIFAB_HUMAN	TRAF-interacting protein with forkhead-associated domain, family member B	94										breast(1)|endometrium(1)|liver(1)|lung(5)	8			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GGACCTGCTCCAGGTACCTCA	0.607													T	134785348	C	T	134785348	2	4	616	1	0	0	0	0	0	0	0	1	15995	581	21	2		2	TIFAB	5	134785348	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		134785348	46129912	9	50831											
TRPC7	57113	broad.mit.edu	37	chr5	135693009	135693009	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggaccccggatggcctggcGacggcccttctccctcagcg	4	6	14	17	4	2	0	1	0	1	0	3	3	2	2	5	5	1	0	5	5	0	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr5:135693009G>A	ENST00000513104.1	-	2	349	c.67C>T	c.(67-69)Cgc>Tgc	p.R23C	TRPC7_ENST00000426057.2_Missense_Mutation_p.R23C|TRPC7_ENST00000355180.3_Missense_Mutation_p.R23C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	23					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGGCCTGGCGACGGCCCTTC	0.587													A	135693009	G	A	135693009	3	1	616	1	0	0	0	0	1	0	0	0	16685	1058	37	1	2565	1	TRPC7	5	135693009	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08	907661	135693009	45222251	10	50832											
SSPO	23145	broad.mit.edu	37	chr7	149486800	149486800	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggagccgatgaggggcCgggacactgccccctacctt	8	6	14	13	2	0	2	0	1	0	1	0	5	0	4	5	4	3	0	5	4	1	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr7:149486800C>T	ENST00000378016.2	+	0	4574							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GATGAGGGGCCGGGACACTGC	0.682													T	149486800	C	T	149486800	1	4	616	0	1	0	0	0	0	0	0	0	15285	652	23	1		1	SSPO	7	149486800	RNA	SNP	C	TCGA-HW-7487-01A-11D-2024-08		149486800	9651863	11	50833											
ADCY8	114	broad.mit.edu	37	chr8	131922058	131922058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaccgcacagcaccgagccGgagtggattccaatcctcat	11	6	9	15	3	1	0	1	0	0	0	3	3	3	2	5	2	2	2	5	2	1	1	rs150100724		TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr8:131922058G>A	ENST00000286355.5	-	6	3628	c.1536C>T	c.(1534-1536)tcC>tcT	p.S512S	ADCY8_ENST00000377928.3_Silent_p.S512S	NM_001115.2	NP_001106.1	P40145	ADCY8_HUMAN	adenylate cyclase 8 (brain)	512					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|membrane fraction|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|metal ion binding			NS(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(21)|lung(67)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(5)|urinary_tract(2)	134	Esophageal squamous(12;0.00693)|Ovarian(258;0.00707)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000538)			GCACCGAGCCGGAGTGGATTC	0.473										HNSCC(32;0.087)			A	131922058	G	A	131922058	2	1	616	1	0	0	0	0	0	0	0	1	300	1103	39	1		1	ADCY8	8	131922058	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08		131922058	14441964	12	50834											
IDI1	3422	broad.mit.edu	37	chr10	1089327	1089327	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacactaaaagctcgatgcAataatcctgaaagcaaaaga	20	6	7	8	1	0	3	0	1	0	2	2	4	1	3	1	0	3	3	1	0	7	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr10:1089327A>G	ENST00000381344.3	-	3	486	c.320T>C	c.(319-321)tTg>tCg	p.L107S	IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000428780.2_RNA|IDI2-AS1_ENST00000420381.1_RNA|IDI1_ENST00000491735.1_5'UTR	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	50	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		AGCTCGATGCAATAATCCTGA	0.348													G	1089327	A	G	1089327	3	3	616	1	0	0	0	0	1	0	0	0	7557	131	5	3	546	3	IDI1	10	1089327	Missense_Mutation	SNP	A	TCGA-HW-7487-01A-11D-2024-08		1089327	134445420	13	50835											
DAO	1610	broad.mit.edu	37	chr12	109294236	109294236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accatccactggggatgtgcCctggaggcagccaagctctt	8	8	12	13	0	1	0	0	0	1	0	2	2	2	2	4	4	3	2	4	4	1	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr12:109294236C>T	ENST00000228476.3	+	11	1173	c.969C>T	c.(967-969)gcC>gcT	p.A323A	DAO_ENST00000551281.1_Silent_p.A257A	NM_001917.4	NP_001908.3	P14920	OXDA_HUMAN	D-amino-acid oxidase	323					glyoxylate metabolic process	peroxisomal matrix	binding|D-amino-acid oxidase activity			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|prostate(2)|skin(1)	26						GGGGATGTGCCCTGGAGGCAG	0.572													T	109294236	C	T	109294236	2	4	616	1	0	0	0	0	0	0	0	1	4265	610	22	2		2	DAO	12	109294236	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		109294236	24557659	14	50836											
DIAPH3	81624	broad.mit.edu	37	chr13	60582733	60582734	+	Frame_Shift_Ins	INS	-	-	T																															aatacaaaaaaatctgtcaaINStttttttttcttcaccagct																										TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr13:60582733_60582734insT	ENST00000400324.4	-	9	1178_1179	c.958_959insA	c.(958-960)attfs	p.I320fs	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400319.1_Frame_Shift_Ins_p.I250fs|DIAPH3_ENST00000400320.1_Frame_Shift_Ins_p.I274fs|DIAPH3_ENST00000377908.2_Frame_Shift_Ins_p.I309fs|DIAPH3_ENST00000267215.4_Frame_Shift_Ins_p.I320fs|DIAPH3_ENST00000400330.1_Frame_Shift_Ins_p.I320fs	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	320	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AAATCTGTCAATTTTTTTTTCT	0.322													T	60582734	-	T	60582733	7	5	616	1	0	1	1	0	0	0	0	0	4559	101	4	0	2722	0	DIAPH3	13	60582733	Frame_Shift_Ins	INS	-	TCGA-HW-7487-01A-11D-2024-08		60582733	54587145	15	50837											
OR4K15	81127	broad.mit.edu	37	chr14	20444378	20444378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggctttctttctctgagttCctttctcctcttggttgtct	1	22	7	11	0	5	1	0	1	5	0	8	1	6	1	2	2	0	3	2	2	0	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:20444378C>T	ENST00000305051.5	+	1	776	c.701C>T	c.(700-702)tCc>tTc	p.S234F		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	234					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TCTCTGAGTTCCTTTCTCCTC	0.453													T	20444378	C	T	20444378	3	4	616	1	0	0	0	0	1	0	0	0	11146	855	30	2	703	2	OR4K15	14	20444378	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08		20444378	86905162	16	50838											
CHD8	57680	broad.mit.edu	37	chr14	21868155	21868155	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttacctggcaatcgcacccCctaacaccttttctgcttgg	7	13	6	15	1	1	0	0	0	1	0	2	0	1	0	4	2	3	3	4	2	3	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:21868155C>T	ENST00000399982.2	-	24	4866	c.4802G>A	c.(4801-4803)gGg>gAg	p.G1601E	CHD8_ENST00000430710.3_Missense_Mutation_p.G1322E|CHD8_ENST00000557364.1_Missense_Mutation_p.G1601E|CHD8_ENST00000555962.1_5'UTR	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	1601					ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		AATCGCACCCCCTAACACCTT	0.423													T	21868155	C	T	21868155	3	4	616	1	0	0	0	0	1	0	0	0	3361	623	22	2	2999	2	CHD8	14	21868155	Missense_Mutation	SNP	C	TCGA-HW-7487-01A-11D-2024-08	1423777	21868155	85481385	17	50839											
AHNAK2	113146	broad.mit.edu	37	chr14	105420366	105420366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtgggccaatctgtgtGcctccttcggttgtgtctct	2	16	12	11	1	3	0	0	0	3	0	6	0	4	0	3	3	1	1	3	3	1	2			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr14:105420366G>A	ENST00000333244.5	-	7	1541	c.1422C>T	c.(1420-1422)ggC>ggT	p.G474G		NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	474						nucleus		p.G474G(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CAATCTGTGTGCCTCCTTCGG	0.522													A	105420366	G	A	105420366	2	1	616	1	0	0	0	0	0	0	0	1	415	1306	46	2		2	AHNAK2	14	105420366	Silent	SNP	G	TCGA-HW-7487-01A-11D-2024-08	83552211	105420366	1929174	18	50840											
SPTBN5	51332	broad.mit.edu	37	chr15	42164528	42164528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgccaactcctgcagtgcccGcagctgctcccggagcctct	5	7	10	19	3	1	0	0	0	1	0	3	1	3	1	5	1	6	4	5	1	1	0			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr15:42164528G>A	ENST00000320955.6	-	27	5364	c.5137C>T	c.(5137-5139)Cgg>Tgg	p.R1713W		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	1713					actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TGCAGTGCCCGCAGCTGCTCC	0.637													A	42164528	G	A	42164528	3	1	616	1	0	0	0	0	1	0	0	0	15218	1086	38	1	6055	1	SPTBN5	15	42164528	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		42164528	60366864	19	50841											
RNF151	146310	broad.mit.edu	37	chr16	2018730	2018730	+	Frame_Shift_Del	DEL	C	C	-																															ccgtcggcccctgctgctgtCcctcctgcggcgtgtgcgct																										TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr16:2018730delC	ENST00000569714.1	+	4	550	c.542delC	c.(541-543)tccfs	p.S181fs	RNF151_ENST00000569210.2_3'UTR|RNF151_ENST00000321392.3_Frame_Shift_Del_p.S180fs	NM_174903.4	NP_777563.2	Q2KHN1	RN151_HUMAN	ring finger protein 151	181					cell differentiation|spermatogenesis	cytoplasm|nucleus	ubiquitin-protein ligase activity|zinc ion binding			kidney(1)|lung(1)	2						CTGCTGCTGTCCCTCCTGCGG	0.687													-	2018730	C	-	2018730	7	5	616	1	0	1	0	1	0	0	0	0	13543	855	30	0	556	0	RNF151	16	2018730	Frame_Shift_Del	DEL	C	TCGA-HW-7487-01A-11D-2024-08		2018730	88336023	20	50842											
LAMA3	3909	broad.mit.edu	37	chr18	21330907	21330907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgtccttgataaacggtcGtccaggtgcaaaaaatttta	12	12	10	7	2	0	1	0	1	0	0	3	1	2	1	2	3	2	1	2	3	6	4			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr18:21330907G>A	ENST00000313654.9	+	5	951	c.710G>A	c.(709-711)cGt>cAt	p.R237H	LAMA3_ENST00000399516.3_Missense_Mutation_p.R237H	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	237	Laminin N-terminal.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATAAACGGTCGTCCAGGTGCA	0.393													A	21330907	G	A	21330907	3	1	616	1	0	0	0	0	1	0	0	0	8666	1145	40	1	728	1	LAMA3	18	21330907	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		21330907	56746341	21	50843											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	7	6	12	16	3	2	0	1	0	1	0	4	1	3	0	4	3	3	2	4	3	1	1			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								A	42791758	G	A	42791758	3	1	616	1	0	0	0	0	1	0	0	0	3454	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-HW-7487-01A-11D-2024-08		42791758	16337225	22	50844											
NLRP9	338321	broad.mit.edu	37	chr19	56249567	56249567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgggtaatgtttgtccagCagctttgctacatcttcttt	6	17	8	10	0	2	0	0	0	2	0	3	0	3	0	2	1	4	5	2	1	2	6			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr19:56249567C>A	ENST00000332836.2	-	1	201	c.174G>T	c.(172-174)ctG>ctT	p.L58L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	58	DAPIN.					cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GTTTGTCCAGCAGCTTTGCTA	0.458													A	56249567	C	A	56249567	2	1	616	1	0	0	0	0	0	0	0	1	10560	697	25	4		4	NLRP9	19	56249567	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08	13457809	56249567	2879416	23	50845											
UMODL1	89766	broad.mit.edu	37	chr21	43519136	43519136	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaaccacactttccatgtCcgggtttaccggggtatgga	9	10	11	11	2	0	1	0	0	0	1	2	2	2	2	4	4	2	2	4	4	3	4			TCGA-HW-7487-01A-11D-2024-08	TCGA-HW-7487-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c1abb741-4fcd-4161-b057-c7efd619cc99	eadcce99-923f-4b79-8c99-3656d412ea5a	g.chr21:43519136C>T	ENST00000400424.2	+	7	1212	c.816C>T	c.(814-816)gtC>gtT	p.V272V	UMODL1_ENST00000400427.1_Silent_p.V272V|UMODL1_ENST00000408989.2_Silent_p.V344V|UMODL1_ENST00000408910.2_Silent_p.V344V	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		EGF-like 1; calcium-binding (Potential).					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CTTTCCATGTCCGGGTTTACC	0.542													T	43519136	C	T	43519136	2	4	616	1	0	0	0	0	0	0	0	1	17082	842	30	2		2	UMODL1	21	43519136	Silent	SNP	C	TCGA-HW-7487-01A-11D-2024-08		43519136	4610759	24	50846											
CR1L	1379	broad.mit.edu	37	chr1	207890949	207890949	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaccttcaacctcattgggGagagcaccatccgccgcaca	10	7	9	15	2	2	2	2	1	0	1	3	3	3	2	5	2	2	2	5	2	1	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr1:207890949G>T	ENST00000508064.2	+	11	1615	c.1555G>T	c.(1555-1557)Gag>Tag	p.E519*		NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	519	Sushi 8.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCTCATTGGGGAGAGCACCAT	0.542													T	207890949	G	T	207890949	4	4	617	1	0	0	0	0	0	1	0	0	3872	1175	41	4	1597	4	CR1L	1	207890949	Nonsense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		207890949	41359672	1	50847											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	617	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		209113112	34086261	2	50848											
IGSF10	285313	broad.mit.edu	37	chr3	151164878	151164878	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatagaagtgattgtgcctgGgttcactcacttctcttaca	10	14	8	9	0	3	2	2	1	1	1	4	2	3	2	1	1	2	1	1	1	4	5			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:151164878G>T	ENST00000282466.3	-	4	2890	c.2891C>A	c.(2890-2892)cCc>cAc	p.P964H		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	964					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTGTGCCTGGGTTCACTCAC	0.418													T	151164878	G	T	151164878	3	4	617	1	0	0	0	0	1	0	0	0	7655	1232	43	4	5040	4	IGSF10	3	151164878	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		151164878	46857552	3	50849											
MECOM	2122	broad.mit.edu	37	chr3	168834410	168834410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgtttatttaaggaagacGtagtgctgaacatttgtcca	11	15	10	5	1	0	2	0	1	0	1	1	3	1	3	1	1	2	3	1	1	5	6			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr3:168834410G>A	ENST00000464456.1	-	7	1886	c.686C>T	c.(685-687)aCg>aTg	p.T229M	MECOM_ENST00000392736.3_Missense_Mutation_p.T229M|MECOM_ENST00000433243.2_Missense_Mutation_p.T230M|MECOM_ENST00000264674.3_Missense_Mutation_p.T294M|MECOM_ENST00000472280.1_Missense_Mutation_p.T230M|MECOM_ENST00000468789.1_Missense_Mutation_p.T229M|MECOM_ENST00000494292.1_Missense_Mutation_p.T417M|MECOM_ENST00000460814.1_Missense_Mutation_p.T229M	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity	p.T229R(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TAAGGAAGACGTAGTGCTGAA	0.453													A	168834410	G	A	168834410	3	1	617	1	0	0	0	0	1	0	0	0	9497	1145	40	1	2509	1	MECOM	3	168834410	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	17669532	168834410	29188020	4	50850											
FAM193A	8603	broad.mit.edu	37	chr4	2696820	2696820	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaaggagggcaagtactgCgactgctgctactgcgaatt	11	8	13	9	2	0	1	0	0	0	1	0	4	0	2	0	2	6	4	0	2	5	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr4:2696820C>T	ENST00000324666.5	+	15	2718	c.2367C>T	c.(2365-2367)tgC>tgT	p.C789C	FAM193A_ENST00000382839.3_Silent_p.C789C|FAM193A_ENST00000502458.1_Silent_p.C811C|FAM193A_ENST00000545951.1_Silent_p.C789C|FAM193A_ENST00000505311.1_Silent_p.C789C	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	789										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						GCAAGTACTGCGACTGCTGCT	0.582													T	2696820	C	T	2696820	2	4	617	1	0	0	0	0	0	0	0	1	5571	776	27	1		1	FAM193A	4	2696820	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		2696820	188457456	5	50851											
KDM3B	51780	broad.mit.edu	37	chr5	137708439	137708439	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaggaagttatcgtgcTtctgctggaagggtctcttg	6	14	14	7	1	2	1	0	1	2	0	4	3	2	3	0	3	3	4	0	3	3	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:137708439T>A	ENST00000314358.5	+	2	469	c.269T>A	c.(268-270)cTt>cAt	p.L90H		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	90					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTTATCGTGCTTCTGCTGGAA	0.507													A	137708439	T	A	137708439	3	1	617	1	0	0	0	0	1	0	0	0	8185	1609	56	5	275	5	KDM3B	5	137708439	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08		137708439	43206821	6	50852											
GRK6	2870	broad.mit.edu	37	chr5	176857877	176857877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctattgctcccacaggtggCggtggaaatcgcaaaggcaa	11	7	12	11	2	0	0	0	0	0	0	2	1	1	1	2	5	1	3	2	5	4	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr5:176857877C>T	ENST00000355472.5	+	2	225	c.57C>T	c.(55-57)ggC>ggT	p.G19G	GRK6_ENST00000528793.1_Silent_p.G19G|GRK6_ENST00000355958.5_Silent_p.G19G|GRK6_ENST00000393576.3_Silent_p.G19G|GRK6_ENST00000507633.1_Silent_p.G19G	NM_001004106.2|NM_002082.3	NP_001004106.1|NP_002073.2	P43250	GRK6_HUMAN	G protein-coupled receptor kinase 6	19	N-terminal.				regulation of G-protein coupled receptor protein signaling pathway	membrane	ATP binding|G-protein coupled receptor kinase activity|signal transducer activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(5)|stomach(1)	25	all_cancers(89;1.15e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACAGGTGGCGGTGGAAATC	0.612													T	176857877	C	T	176857877	2	4	617	1	0	0	0	0	0	0	0	1	6848	755	27	1		1	GRK6	5	176857877	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08	39149438	176857877	4057383	7	50853											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18776969	18776969	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatcacctgggagaaggaCggccagcacctcatcagctc	10	6	10	15	1	4	1	4	0	0	1	5	3	4	2	3	3	2	2	3	3	1	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr9:18776969C>T	ENST00000380548.4	+	19	3081	c.2742C>T	c.(2740-2742)gaC>gaT	p.D914D		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	914	Ig-like C2-type 1.					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		GGGAGAAGGACGGCCAGCACC	0.677													T	18776969	C	T	18776969	2	4	617	1	0	0	0	0	0	0	0	1	274	535	19	1		1	ADAMTSL1	9	18776969	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		18776969	122436462	8	50854											
MCM10	55388	broad.mit.edu	37	chr10	13231079	13231079	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcctcgtatgcagcttcaAtgtaagacgttctcgggctt	7	13	10	11	3	2	1	1	0	1	1	4	1	2	1	1	1	3	6	1	1	3	5			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:13231079A>G	ENST00000378694.1	+	9	1489	c.1414A>G	c.(1414-1416)Att>Gtt	p.I472V	MCM10_ENST00000378714.3_Splice_Site_p.I472V|MCM10_ENST00000484800.2_Splice_Site_p.I473V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	473					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						TGCAGCTTCAATGTAAGACGT	0.478													G	13231079	A	G	13231079	5	3	617	1	0	0	0	0	0	0	1	0	9460	115	4	3	1451	3	MCM10	10	13231079	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		13231079	122303668	9	50855											
TCF7L2	6934	broad.mit.edu	37	chr10	114912156	114912156	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcccggaaggagcgacagcTtcatatgcaactgtaccccg	10	6	12	13	3	1	0	1	0	0	0	1	3	1	2	3	3	5	3	3	3	4	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr10:114912156T>G	ENST00000545257.1	+	11	1733	c.1226T>G	c.(1225-1227)cTt>cGt	p.L409R	TCF7L2_ENST00000369386.1_Missense_Mutation_p.L52R|TCF7L2_ENST00000466338.1_3'UTR|TCF7L2_ENST00000542695.1_Missense_Mutation_p.L125R|TCF7L2_ENST00000369389.1_Missense_Mutation_p.L120R|TCF7L2_ENST00000352065.5_Missense_Mutation_p.L386R|TCF7L2_ENST00000534894.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000355717.4_Missense_Mutation_p.L433R|TCF7L2_ENST00000536810.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000355995.4_Missense_Mutation_p.L409R|TCF7L2_ENST00000369397.4_Missense_Mutation_p.L386R|TCF7L2_ENST00000543371.1_Missense_Mutation_p.L409R|TCF7L2_ENST00000538897.1_Missense_Mutation_p.L409R			Q9NQB0	TF7L2_HUMAN	transcription factor 7-like 2 (T-cell specific, HMG-box)	409					anti-apoptosis|blood vessel development|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell cycle arrest|cell proliferation|fat cell differentiation|glucose homeostasis|maintenance of DNA repeat elements|myoblast cell fate commitment|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|pancreas development|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of insulin secretion|positive regulation of protein binding|positive regulation of protein export from nucleus|positive regulation of protein kinase B signaling cascade|positive regulation of transcription from RNA polymerase II promoter|regulation of hormone metabolic process|regulation of smooth muscle cell proliferation|response to glucose stimulus	beta-catenin-TCF7L2 complex|PML body|protein-DNA complex	armadillo repeat domain binding|beta-catenin binding|gamma-catenin binding|nuclear hormone receptor binding|protein kinase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding		VTI1A/TCF7L2(8)	central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(24)|liver(2)|lung(8)|ovary(1)|skin(1)	41		Breast(234;0.058)|Colorectal(252;0.0615)		Epithelial(162;0.00554)|all cancers(201;0.02)		GAGCGACAGCTTCATATGCAA	0.527			T	VTI1A	colorectal								G	114912156	T	G	114912156	3	3	617	1	0	0	0	0	1	0	0	0	15798	1609	56	5	1413	5	TCF7L2	10	114912156	Missense_Mutation	SNP	T	TCGA-HW-7489-01A-11D-2024-08	101681077	114912156	20622591	10	50856											
FADS2	9415	broad.mit.edu	37	chr11	61630533	61630533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagccctccttttcctcaaCttcatcaggtgcctgggctt	5	13	9	14	0	3	0	3	0	0	0	5	1	5	1	4	3	3	1	4	3	1	4			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:61630533C>G	ENST00000278840.4	+	8	1602	c.972C>G	c.(970-972)aaC>aaG	p.N324K	FADS2_ENST00000257261.6_Missense_Mutation_p.N302K|FADS2_ENST00000521849.1_Missense_Mutation_p.N324K|FADS2_ENST00000522056.1_Missense_Mutation_p.N293K	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	324					electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding			breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TTTTCCTCAACTTCATCAGGT	0.577													G	61630533	C	G	61630533	3	3	617	1	0	0	0	0	1	0	0	0	5411	564	20	4	1002	4	FADS2	11	61630533	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		61630533	73375983	11	50857											
FAT3	120114	broad.mit.edu	37	chr11	92600243	92600243	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ataacaatgagctgccgctgCagaacaagcgcagcagcttc	13	6	10	12	2	0	2	0	1	0	1	1	2	0	2	1	0	8	6	1	0	4	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr11:92600243C>T	ENST00000298047.6	+	21	12012	c.11995C>T	c.(11995-11997)Cag>Tag	p.Q3999*	FAT3_ENST00000409404.2_Nonsense_Mutation_p.Q3999*|FAT3_ENST00000525166.1_Nonsense_Mutation_p.Q3849*|FAT3_ENST00000533797.1_Nonsense_Mutation_p.Q334*			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3999	Laminin G-like.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GCTGCCGCTGCAGAACAAGCG	0.637										TCGA Ovarian(4;0.039)			T	92600243	C	T	92600243	4	4	617	1	0	0	0	0	0	1	0	0	5740	711	25	2	12077	2	FAT3	11	92600243	Nonsense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08	30969710	92600243	42406273	12	50858											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392093	21392093	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataaacattttgtcccttcTgctggggcagatagtgaaac	12	12	9	8	0	1	2	0	1	1	1	2	2	2	2	1	2	3	2	1	2	5	5			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:21392093T>C	ENST00000256958.2	+	15	2142	c.2046T>C	c.(2044-2046)tcT>tcC	p.S682S		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	682					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTGTCCCTTCTGCTGGGGCAG	0.343													C	21392093	T	C	21392093	2	2	617	1	0	0	0	0	0	0	0	1	14817	1567	55	3		3	SLCO1B1	12	21392093	Silent	SNP	T	TCGA-HW-7489-01A-11D-2024-08		21392093	112459802	13	50859											
ANO6	196527	broad.mit.edu	37	chr12	45797221	45797221	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attttctttttaaccttctaGtgtgacccaggtggctgtct	6	18	8	9	0	3	1	0	1	3	0	3	1	3	1	2	2	1	1	2	2	2	7			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr12:45797221G>T	ENST00000320560.8	+	15	1984		c.e15-1		ANO6_ENST00000425752.2_Splice_Site|ANO6_ENST00000423947.3_Splice_Site|ANO6_ENST00000441606.2_Splice_Site|ANO6_ENST00000435642.1_Splice_Site|ANO6_ENST00000426898.2_Splice_Site	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6						activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						TAACCTTCTAGTGTGACCCAG	0.338													T	45797221	G	T	45797221	5	4	617	1	0	0	0	0	0	0	1	0	701	1043	36	4	1860	4	ANO6	12	45797221	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08	24405128	45797221	88054674	14	50860											
TRIM13	10206	broad.mit.edu	37	chr13	50586070	50586070	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattttttttttttctggtaGgatgtgatggagctgcttga	7	20	11	3	0	1	2	0	2	1	0	1	4	1	4	0	3	2	3	0	3	2	8			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr13:50586070G>A	ENST00000378182.3	+	2	732		c.e2-1		TRIM13_ENST00000356017.4_Splice_Site|TRIM13_ENST00000457662.2_Splice_Site|TRIM13_ENST00000420995.2_Splice_Site|TRIM13_ENST00000298772.5_Splice_Site|TRIM13_ENST00000478111.1_Intron	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13						anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		TTTTCTGGTAGGATGTGATGG	0.373													A	50586070	G	A	50586070	5	1	617	1	0	0	0	0	0	0	1	0	16589	1014	35	2	9	2	TRIM13	13	50586070	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		50586070	64583808	15	50861											
CD276	80381	broad.mit.edu	37	chr15	73992059	73992059	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactgtggttctgcctcacaGgtgagggtagcagcatgggg	7	9	16	9	0	2	1	1	1	1	0	2	1	2	1	1	5	3	4	1	5	1	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr15:73992059G>A	ENST00000318443.5	+	2	381	c.79G>A	c.(79-81)Gga>Aga	p.G27R	CD276_ENST00000318424.5_Splice_Site_p.G27R|CD276_ENST00000537340.2_Intron|CD276_ENST00000561213.1_Splice_Site_p.G27R|CD276_ENST00000564751.1_Splice_Site_p.G27R	NM_001024736.1	NP_001019907.1	Q5ZPR3	CD276_HUMAN	CD276 molecule	27					cell proliferation|immune response|positive regulation of interferon-gamma biosynthetic process|positive regulation of T cell proliferation|regulation of immune response|T cell activation	external side of plasma membrane|integral to membrane	receptor binding			endometrium(3)|lung(5)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	13						CTGCCTCACAGGTGAGGGTAG	0.662													A	73992059	G	A	73992059	5	1	617	1	0	0	0	0	0	0	1	0	3022	1014	35	2	81	2	CD276	15	73992059	Splice_Site	SNP	G	TCGA-HW-7489-01A-11D-2024-08		73992059	28539333	16	50862											
TELO2	9894	broad.mit.edu	37	chr16	1552970	1552970	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacagttctatgccctcaaCtacagcctccggcagcgcat	9	9	7	16	2	3	0	2	0	1	0	4	0	4	0	3	1	5	3	3	1	3	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:1552970C>A	ENST00000262319.6	+	15	2088	c.1809C>A	c.(1807-1809)aaC>aaA	p.N603K	TELO2_ENST00000564507.1_3'UTR	NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	603						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				ATGCCCTCAACTACAGCCTCC	0.642													A	1552970	C	A	1552970	3	1	617	1	0	0	0	0	1	0	0	0	15857	564	20	4	1863	4	TELO2	16	1552970	Missense_Mutation	SNP	C	TCGA-HW-7489-01A-11D-2024-08		1552970	88801783	17	50863											
CPPED1	55313	broad.mit.edu	37	chr16	12798613	12798613	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggcatgctggcagtgccGctgcctcgcgatgctcagct	5	9	14	13	3	1	0	1	0	0	0	2	2	1	0	2	2	5	6	2	2	0	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:12798613G>A	ENST00000381774.4	-	3	823	c.583C>T	c.(583-585)Cgg>Tgg	p.R195W	CPPED1_ENST00000261660.4_Intron|CPPED1_ENST00000433677.2_Intron	NM_018340.2	NP_060810.2	Q9BRF8	CPPED_HUMAN	calcineurin-like phosphoesterase domain containing 1	195							hydrolase activity|metal ion binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|urinary_tract(1)	18						TGGCAGTGCCGCTGCCTCGCG	0.602													A	12798613	G	A	12798613	3	1	617	1	0	0	0	0	1	0	0	0	3853	1086	38	1	369	1	CPPED1	16	12798613	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	11245643	12798613	77556140	18	50864											
CDH16	1014	broad.mit.edu	37	chr16	66950067	66950067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtgcacaagcacaggctgtgGaccccacaagacatgtccat	12	6	10	13	0	0	1	0	0	0	1	1	2	1	2	3	2	2	3	3	2	2	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr16:66950067G>A	ENST00000299752.4	-	5	518	c.325C>T	c.(325-327)Cca>Tca	p.P109S	CDH16_ENST00000565796.1_Missense_Mutation_p.P109S|CDH16_ENST00000568632.1_Missense_Mutation_p.P109S|CDH16_ENST00000570262.1_Missense_Mutation_p.P29S|CDH16_ENST00000394055.3_Missense_Mutation_p.P109S	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	109	Cadherin 1.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		ACAGGCTGTGGACCCCACAAG	0.612													A	66950067	G	A	66950067	3	1	617	1	0	0	0	0	1	0	0	0	3131	1174	41	2	2220	2	CDH16	16	66950067	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	54151454	66950067	23404686	19	50865											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	617	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		7577121	73618089	20	50866											
C17orf103	256302	broad.mit.edu	37	chr17	21147493	21147493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctgcaggtccacgatccGcttgcccacgtactcataga	8	9	10	14	3	1	1	1	0	0	1	3	2	3	1	3	1	4	4	3	1	2	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr17:21147493G>A	ENST00000399011.2	-	3	149	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	C17orf103_ENST00000468196.1_Silent_p.S50S	NM_152914.2	NP_690878.2	Q8N6N6	GTL3B_HUMAN	chromosome 17 open reading frame 103	51										endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	6						TCCACGATCCGCTTGCCCACG	0.632													A	21147493	G	A	21147493	3	1	617	1	0	0	0	0	1	0	0	0	1864	1086	38	1	77	1	C17orf103	17	21147493	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	13570372	21147493	60047717	21	50867											
C3	718	broad.mit.edu	37	chr19	6709693	6709693	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccttgggtcactggcccttAccttactctgcgtcagtttg	4	14	10	13	1	3	0	2	0	1	0	3	0	3	0	3	2	3	1	3	2	2	4			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:6709693A>G	ENST00000245907.6	-	14	1938		c.e14+1			NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3						complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		ACTGGCCCTTACCTTACTCTG	0.627													G	6709693	A	G	6709693	5	3	617	1	0	0	0	0	0	0	1	0	2225	405	14	3	3256	3	C3	19	6709693	Splice_Site	SNP	A	TCGA-HW-7489-01A-11D-2024-08		6709693	52419290	22	50868											
CYP4F22	126410	broad.mit.edu	37	chr19	15648459	15648459	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaagatcttcaaccagagcGctgacattatgcatgtgagt	12	11	10	8	1	2	5	1	3	1	2	2	5	2	5	1	0	3	2	1	0	3	2			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr19:15648459G>A	ENST00000269703.3	+	6	734	c.535G>A	c.(535-537)Gct>Act	p.A179T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A179T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						CAACCAGAGCGCTGACATTAT	0.547													A	15648459	G	A	15648459	3	1	617	1	0	0	0	0	1	0	0	0	4222	1087	38	1	549	1	CYP4F22	19	15648459	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08	8938766	15648459	43480524	23	50869											
SIM2	6493	broad.mit.edu	37	chr21	38098527	38098527	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggccgtgggccagtcgctGccacccagtgccatcaccga	6	6	13	16	3	1	0	1	0	0	0	2	1	1	0	6	2	2	1	6	2	0	0			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr21:38098527G>A	ENST00000290399.6	+	6	1264	c.651G>A	c.(649-651)ctG>ctA	p.L217L	SIM2_ENST00000430056.3_Silent_p.L217L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	217					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						GCCAGTCGCTGCCACCCAGTG	0.542													A	38098527	G	A	38098527	2	1	617	1	0	0	0	0	0	0	0	1	14418	1306	46	2		2	SIM2	21	38098527	Silent	SNP	G	TCGA-HW-7489-01A-11D-2024-08		38098527	10031368	24	50870											
PRR5-ARHGAP8	553158	broad.mit.edu	37	chr22	45221460	45221460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccacacagcagtttggcGtcagtctgcaatagtaagtg	10	10	11	10	1	2	0	1	0	1	0	2	0	2	0	1	1	3	4	1	1	3	3	rs140257857		TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chr22:45221460G>A	ENST00000352766.7	+	12	1213	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	ARHGAP8_ENST00000336963.4_Missense_Mutation_p.V195I|ARHGAP8_ENST00000389773.5_Missense_Mutation_p.V317I|ARHGAP8_ENST00000356099.6_Missense_Mutation_p.V195I|ARHGAP8_ENST00000389774.2_Missense_Mutation_p.V226I|ARHGAP8_ENST00000517296.3_Missense_Mutation_p.V405I|PRR5-ARHGAP8_ENST00000361473.5_Missense_Mutation_p.V326I																breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(10)|prostate(1)|skin(8)	30						GCAGTTTGGCGTCAGTCTGCA	0.642													A	45221460	G	A	45221460	3	1	617	1	0	0	0	0	1	0	0	0	12686	1145	40	1	987	1	PRR5-ARHGAP8	22	45221460	Missense_Mutation	SNP	G	TCGA-HW-7489-01A-11D-2024-08		45221460	6083106	25	50871											
FRMPD4	9758	broad.mit.edu	37	chrX	12734264	12734264	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatgaccacctttattggCgaaggggaacaagaagccca	15	6	10	10	1	0	2	0	1	0	1	0	4	0	3	3	3	2	0	3	3	6	3			TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:12734264C>T	ENST00000380682.1	+	15	2192	c.1686C>T	c.(1684-1686)ggC>ggT	p.G562G		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	562					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						CCTTTATTGGCGAAGGGGAAC	0.468													T	12734264	C	T	12734264	2	4	617	1	0	0	0	0	0	0	0	1	6111	755	27	1		1	FRMPD4	23	12734264	Silent	SNP	C	TCGA-HW-7489-01A-11D-2024-08		12734264	142536296	26	50872											
ATRX	546	broad.mit.edu	37	chrX	76938654	76938655	+	Frame_Shift_Ins	INS	-	-	T																															cagaagaattacgcttatccINSttttttctcactggaactga																										TCGA-HW-7489-01A-11D-2024-08	TCGA-HW-7489-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b715d3c6-d531-4459-b0c6-af666fee4ba0	33621334-7062-489b-933b-411706720ca0	g.chrX:76938654_76938655insT	ENST00000373344.5	-	9	2307_2308	c.2093_2094insA	c.(2092-2094)aagfs	p.K698fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K660fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	698					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)	TACGCTTATCCTTTTTTCTCAC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76938655	-	T	76938654	7	5	617	1	0	1	1	0	0	0	0	0	1213	680	24	0	5492	0	ATRX	23	76938654	Frame_Shift_Ins	INS	-	TCGA-HW-7489-01A-11D-2024-08	64204390	76938654	78331906	27	50873											
SAMD11	148398	broad.mit.edu	37	chr1	861308	861308	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgctcgcagggaaaaGtctgaagacgcttatgtcca	10	9	12	10	2	2	2	0	1	2	1	4	3	3	3	1	2	1	4	1	2	4	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:861308G>C	ENST00000598827.1	-	6	291	c.292C>G	c.(292-294)Ctt>Gtt	p.L98V	SAMD11_ENST00000342066.3_5'UTR																							GCAGGGAAAAGTCTGAAGACG	0.662													C	861308	G	C	861308	3	2	618	1	0	0	0	0	1	0	0	0	13907	1044	36	4		4	SAMD11	1	861308	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		861308	248389313	1	50874											
ARHGEF10L	55160	broad.mit.edu	37	chr1	17961457	17961457	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacctatgacaaggacaatGtgctcatccagcactcaggc	12	7	9	13	0	2	1	2	1	0	0	3	2	3	2	2	2	2	3	2	2	3	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:17961457G>C	ENST00000361221.3	+	18	2032	c.1873G>C	c.(1873-1875)Gtg>Ctg	p.V625L	ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.V398L|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.V383L|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.V586L|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.V620L|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.V328L|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.V586L	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	625					regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CAAGGACAATGTGCTCATCCA	0.642													C	17961457	G	C	17961457	3	2	618	1	0	0	0	0	1	0	0	0	898	1377	48	4	1939	4	ARHGEF10L	1	17961457	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	17100149	17961457	231289164	2	50875											
ARID1A	8289	broad.mit.edu	37	chr1	27057848	27057848	+	Frame_Shift_Del	DEL	C	C	-																															gtcctctcagcctccatactCccagcagccatcccagcctc																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:27057848delC	ENST00000324856.7	+	3	1927	c.1556delC	c.(1555-1557)tccfs	p.S519fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.S519fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.S136fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	519					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		CCTCCATACTCCCAGCAGCCA	0.632			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27057848	C	-	27057848	7	5	618	1	0	1	0	1	0	0	0	0	916	855	30	0	1566	0	ARID1A	1	27057848	Frame_Shift_Del	DEL	C	TCGA-HW-7490-01A-11D-2024-08	9096391	27057848	222192773	3	50876											
S1PR1	1901	broad.mit.edu	37	chr1	101705575	101705575	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaattcaagcgacccatcatCgccggcatggaattcagccg	12	7	9	13	4	3	0	3	0	0	0	4	2	3	1	3	2	2	1	3	2	3	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:101705575C>T	ENST00000305352.6	+	2	1410	c.1035C>T	c.(1033-1035)atC>atT	p.I345I		NM_001400.4	NP_001391.2	P21453	S1PR1_HUMAN	sphingosine-1-phosphate receptor 1	345					cell adhesion	integral to membrane	lysosphingolipid and lysophosphatidic acid receptor activity			NS(1)|autonomic_ganglia(1)|breast(1)|large_intestine(7)|lung(23)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	43						GACCCATCATCGCCGGCATGG	0.557													T	101705575	C	T	101705575	2	4	618	1	0	0	0	0	0	0	0	1	13884	874	31	1		1	S1PR1	1	101705575	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	74647727	101705575	147545046	4	50877											
ASPM	259266	broad.mit.edu	37	chr1	197070598	197070599	+	Frame_Shift_Del	DEL	TC	TC	-																															ttcattgtgttgaaatacttTctgtttctttttatttgctc																								rs144088344	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:197070598_197070599delTC	ENST00000367409.4	-	18	8038_8039	c.7782_7783delGA	c.(7780-7785)cagaaafs	p.K2595fs	ASPM_ENST00000294732.7_Intron|ASPM_ENST00000367408.1_Intron	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2595					mitosis	cytoplasm|nucleus	calmodulin binding	p.Q2594Q(1)		breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAATACTTTCTGTTTCTTTT	0.356													-	197070599	TC	-	197070598	7	5	618	1	0	1	0	1	0	0	0	0	1061	1792	62	0	2694	0	ASPM	1	197070598	Frame_Shift_Del	DEL	TC	TCGA-HW-7490-01A-11D-2024-08	95365023	197070598	52180023	5	50878											
USH2A	7399	broad.mit.edu	37	chr1	215914869	215914869	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaacatcctactgctaacTccacaacttccttgaaaaaa	17	9	2	13	0	0	1	0	1	0	0	3	1	3	1	3	0	5	1	3	0	7	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:215914869T>C	ENST00000366943.2	-	60	11945	c.11559A>G	c.(11557-11559)ggA>ggG	p.G3853G	USH2A_ENST00000307340.3_Silent_p.G3853G			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3853	Fibronectin type-III 23.				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)		TACTGCTAACTCCACAACTTC	0.358										HNSCC(13;0.011)			C	215914869	T	C	215914869	2	2	618	1	0	0	0	0	0	0	0	1	17138	1538	54	3		3	USH2A	1	215914869	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	18844271	215914869	33335752	6	50879											
OR2M5	127059	broad.mit.edu	37	chr1	248308952	248308952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcgacattttccttctcctActgtgggtctcgggaaatag	8	13	10	10	2	2	0	0	0	2	0	5	2	3	1	2	2	2	0	2	2	3	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248308952A>G	ENST00000366476.1	+	1	503	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TCCTTCTCCTACTGTGGGTCT	0.443													G	248308952	A	G	248308952	3	3	618	1	0	0	0	0	1	0	0	0	11089	391	14	3	505	3	OR2M5	1	248308952	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	32394083	248308952	941669	7	50880											
OR2M7	391196	broad.mit.edu	37	chr1	248487368	248487368	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatttcccgagacccacagTaggagaaggaaaatgtcgct	13	8	10	10	2	0	2	0	0	0	2	2	5	1	3	2	2	0	2	2	2	5	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr1:248487368T>C	ENST00000317965.2	-	1	531	c.503A>G	c.(502-504)tAc>tGc	p.Y168C		NM_001004691.1	NP_001004691.1	Q8NG81	OR2M7_HUMAN	olfactory receptor, family 2, subfamily M, member 7	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(6)|large_intestine(3)|lung(29)|skin(3)	42	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGACCCACAGTAGGAGAAGGA	0.448													C	248487368	T	C	248487368	3	2	618	1	0	0	0	0	1	0	0	0	11090	1638	57	3	438	3	OR2M7	1	248487368	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	178416	248487368	763253	8	50881											
ELMOD3	84173	broad.mit.edu	37	chr2	85617291	85617291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagcagaaggtcatcccCgtggtgaacagcttctatgc	9	8	12	12	2	2	2	1	1	1	1	3	2	3	2	2	3	4	3	2	3	3	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:85617291C>T	ENST00000315658.7	+	11	1105	c.846C>T	c.(844-846)ccC>ccT	p.P282P	ELMOD3_ENST00000409344.3_Silent_p.P282P|ELMOD3_ENST00000409013.3_Silent_p.P282P|ELMOD3_ENST00000409890.2_Silent_p.P282P|ELMOD3_ENST00000490508.1_3'UTR|ELMOD3_ENST00000393852.4_Silent_p.P282P	NM_032213.4	NP_115589.2	Q96FG2	ELMD3_HUMAN	ELMO/CED-12 domain containing 3	282	ELMO.				phagocytosis	cytoskeleton				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	12						AGGTCATCCCCGTGGTGAACA	0.567													T	85617291	C	T	85617291	2	4	618	1	0	0	0	0	0	0	0	1	5111	639	23	1		1	ELMOD3	2	85617291	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		85617291	157582082	9	50882											
GPR39	2863	broad.mit.edu	37	chr2	133175296	133175296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtccagcatcttcggcgcCttcgtggtctacctcgtggt	4	12	11	14	4	2	0	0	0	2	0	6	0	3	0	3	3	2	1	3	3	1	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:133175296C>T	ENST00000329321.3	+	1	1150	c.681C>T	c.(679-681)gcC>gcT	p.A227A		NM_001508.2	NP_001499.1	O43194	GPR39_HUMAN	G protein-coupled receptor 39	227						integral to plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTCGGCGCCTTCGTGGTCT	0.612													T	133175296	C	T	133175296	2	4	618	1	0	0	0	0	0	0	0	1	6747	668	24	2		2	GPR39	2	133175296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47558005	133175296	110024077	10	50883											
TANK	10010	broad.mit.edu	37	chr2	162087893	162087893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaactgacaaaacaaagcCctcaaatctcgtaaacactt	19	7	3	12	1	2	1	1	1	1	0	3	1	2	1	1	0	5	1	1	0	8	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:162087893C>T	ENST00000392749.2	+	7	1171	c.932C>T	c.(931-933)cCc>cTc	p.P311L	AC009299.2_ENST00000445372.1_RNA|TANK_ENST00000406287.1_Intron|TANK_ENST00000402568.1_Intron|AC009299.2_ENST00000421122.2_RNA|TANK_ENST00000405852.1_Missense_Mutation_p.P311L|TANK_ENST00000259075.2_Missense_Mutation_p.P311L	NM_001199135.1	NP_001186064.1	Q92844	TANK_HUMAN	TRAF family member-associated NFKB activator	311						cytosol	metal ion binding|protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)	21						AAAACAAAGCCCTCAAATCTC	0.383													T	162087893	C	T	162087893	3	4	618	1	0	0	0	0	1	0	0	0	15643	623	22	2	987	2	TANK	2	162087893	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	28912597	162087893	81111480	11	50884											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	618	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	47025219	209113112	34086261	12	50885											
CCDC108	255101	broad.mit.edu	37	chr2	219868814	219868814	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagctcactttctcttcCttctcatccctctcctcctc	3	15	2	21	0	4	0	2	0	3	0	11	0	7	0	5	0	1	1	5	0	0	3	rs73089095	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr2:219868814C>T	ENST00000341552.5	-	33	5498	c.5415G>A	c.(5413-5415)aaG>aaA	p.K1805K	CCDC108_ENST00000441968.1_Silent_p.K1805K|CCDC108_ENST00000453220.1_Silent_p.K1805K|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1805	Glu-rich.					integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTTctcttccttctcatccc	0.557													T	219868814	C	T	219868814	2	4	618	1	0	0	0	0	0	0	0	1	2769	680	24	2		2	CCDC108	2	219868814	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10755702	219868814	23330559	13	50886											
SLC6A11	6538	broad.mit.edu	37	chr3	10885932	10885932	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatctctgacgggatcgaGcacatcgggaaccttcgctg	8	8	12	13	4	1	1	0	1	1	0	5	4	1	3	2	2	2	2	2	2	1	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:10885932G>C	ENST00000254488.2	+	5	723	c.657G>C	c.(655-657)gaG>gaC	p.E219D		NM_014229.1	NP_055044.1	P48066	S6A11_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 11	219					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(13)|ovary(1)|skin(4)	35				OV - Ovarian serous cystadenocarcinoma(96;0.229)		ACGGGATCGAGCACATCGGGA	0.587													C	10885932	G	C	10885932	3	2	618	1	0	0	0	0	1	0	0	0	14768	962	34	4	675	4	SLC6A11	3	10885932	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		10885932	187136498	14	50887											
AMOTL2	51421	broad.mit.edu	37	chr3	134078153	134078155	+	In_Frame_Del	DEL	TGT	TGT	-																															agccgagcaggggcgtctgcTgtttgtcgctcactagaaga																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr3:134078153_134078155delTGT	ENST00000514516.1	-	8	2426_2428	c.2248_2250delACA	c.(2248-2250)acadel	p.T750del	AMOTL2_ENST00000422605.2_In_Frame_Del_p.T692del|AMOTL2_ENST00000513145.1_In_Frame_Del_p.T690del|AMOTL2_ENST00000249883.5_In_Frame_Del_p.T692del	NM_001278683.1	NP_001265612.1	Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	692										endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGGCGTCTGCTGTTTGTCGCTCA	0.596													-	134078155	TGT	-	134078153	7	5	618	1	0	1	0	1	0	0	0	0	584	1567	55	0	278	0	AMOTL2	3	134078153	In_Frame_Del	DEL	TGT	TCGA-HW-7490-01A-11D-2024-08	123192221	134078153	63944277	15	50888											
MAN2B2	23324	broad.mit.edu	37	chr4	6612960	6612960	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcgccagaggagcgcaCtggcgctgcagcacaggccc	7	3	14	17	3	0	1	0	0	0	1	0	2	0	2	3	3	4	4	3	3	0	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:6612960C>T	ENST00000285599.3	+	15	2554	c.2518C>T	c.(2518-2520)Ctg>Ttg	p.L840L	MAN2B2_ENST00000504248.1_Silent_p.L789L	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	840					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GAGGAGCGCACTGGCGCTGCA	0.627													T	6612960	C	T	6612960	2	4	618	1	0	0	0	0	0	0	0	1	9292	564	20	2		2	MAN2B2	4	6612960	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		6612960	184541316	16	50889											
SLIT2	9353	broad.mit.edu	37	chr4	20598163	20598163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatatgtcagtgtttgcCtggctatcagggagaaaagt	11	11	12	7	0	2	1	2	0	0	1	2	2	2	1	2	2	1	2	2	2	5	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:20598163C>T	ENST00000504154.1	+	32	3698	c.3446C>T	c.(3445-3447)cCt>cTt	p.P1149L	SLIT2_ENST00000503823.1_Missense_Mutation_p.P1141L|SLIT2_ENST00000503837.1_Missense_Mutation_p.P1145L|SLIT2_ENST00000273739.5_Missense_Mutation_p.P1162L	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1149	EGF-like 6.				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CAGTGTTTGCCTGGCTATCAG	0.433													T	20598163	C	T	20598163	3	4	618	1	0	0	0	0	1	0	0	0	14834	681	24	2	3572	2	SLIT2	4	20598163	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	13985203	20598163	170556113	17	50890											
COL25A1	84570	broad.mit.edu	37	chr4	109805344	109805344	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtatttacctttatccccGgaagtccaggaagcccagga	11	9	9	12	1	0	0	0	0	0	0	2	3	2	3	5	3	2	1	5	3	5	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:109805344G>A	ENST00000399132.1	-	19	1540	c.1010C>T	c.(1009-1011)cCg>cTg	p.P337L	COL25A1_ENST00000399126.1_Missense_Mutation_p.P337L|COL25A1_ENST00000399127.1_Missense_Mutation_p.P333L	NM_198721.2	NP_942014.1	Q9BXS0	COPA1_HUMAN	collagen, type XXV, alpha 1	337	Collagen-like 4.					collagen|extracellular space	beta-amyloid binding|heparin binding			NS(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	49		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000173)		CTTTATCCCCGGAAGTCCAGG	0.413													A	109805344	G	A	109805344	3	1	618	1	0	0	0	0	1	0	0	0	3715	1116	39	1	1118	1	COL25A1	4	109805344	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	89207181	109805344	81348932	18	50891											
KLKB1	3818	broad.mit.edu	37	chr4	187158067	187158067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtttttttcatatgccaCgcaaacatttcacaaggcag	12	12	6	11	1	2	0	2	0	0	0	2	0	2	0	2	1	2	3	2	1	3	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr4:187158067C>T	ENST00000264690.6	+	5	648	c.461C>T	c.(460-462)aCg>aTg	p.T154M	KLKB1_ENST00000513864.1_Missense_Mutation_p.T154M	NM_000892.3	NP_000883.2	P03952	KLKB1_HUMAN	kallikrein B, plasma (Fletcher factor) 1	154	Apple 2.				blood coagulation, intrinsic pathway|Factor XII activation|fibrinolysis|plasminogen activation|positive regulation of fibrinolysis	cytoplasm|extracellular space|plasma membrane	serine-type endopeptidase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	40		all_cancers(14;1.55e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00664)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.29e-10)|BRCA - Breast invasive adenocarcinoma(30;3.8e-05)|GBM - Glioblastoma multiforme(59;0.000131)|STAD - Stomach adenocarcinoma(60;0.000292)|LUSC - Lung squamous cell carcinoma(40;0.00241)|READ - Rectum adenocarcinoma(43;0.168)		TCATATGCCACGCAAACATTT	0.408													T	187158067	C	T	187158067	3	4	618	1	0	0	0	0	1	0	0	0	8470	536	19	1	475	1	KLKB1	4	187158067	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	77352723	187158067	3996209	19	50892											
TNIP1	10318	broad.mit.edu	37	chr5	150425452	150425454	+	In_Frame_Del	DEL	CTT	CTT	-																															tgctgctccagcatcttcacCttcttctcggctgcgcccaa																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr5:150425452_150425454delCTT	ENST00000389378.2	-	9	1492_1494	c.904_906delAAG	c.(904-906)aagdel	p.K302del	TNIP1_ENST00000523200.1_In_Frame_Del_p.K302del|TNIP1_ENST00000521423.1_Intron|TNIP1_ENST00000522226.1_In_Frame_Del_p.K302del|TNIP1_ENST00000523338.1_In_Frame_Del_p.K302del|TNIP1_ENST00000315050.7_In_Frame_Del_p.K302del|TNIP1_ENST00000520931.1_In_Frame_Del_p.K249del|TNIP1_ENST00000524280.1_In_Frame_Del_p.K302del|TNIP1_ENST00000521591.1_In_Frame_Del_p.K302del|TNIP1_ENST00000518977.1_In_Frame_Del_p.K302del	NM_001252385.1|NM_001252393.1|NM_001258454.1|NM_006058.4	NP_001239314.1|NP_001239322.1|NP_001245383.1|NP_006049.3	Q15025	TNIP1_HUMAN	TNFAIP3 interacting protein 1	302	Interacts with Nef.				defense response|glycoprotein biosynthetic process|negative regulation of viral genome replication|translation	cytoplasm|nucleus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|liver(1)|lung(5)|ovary(2)|prostate(2)|skin(3)	23		Medulloblastoma(196;0.0911)|all_hematologic(541;0.207)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GCATCTTCACCTTCTTCTCGGCT	0.601													-	150425454	CTT	-	150425452	7	5	618	1	0	1	0	1	0	0	0	0	16414	680	24	0	1044	0	TNIP1	5	150425452	In_Frame_Del	DEL	CTT	TCGA-HW-7490-01A-11D-2024-08		150425452	30489808	20	50893											
SCAND3	114821	broad.mit.edu	37	chr6	28540794	28540794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatttaaattccaaaccacAtttgttaacaatataattct	18	15	1	7	0	1	0	0	0	1	0	2	0	2	0	2	0	2	1	2	0	8	8			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:28540794A>G	ENST00000452236.2	-	4	3489	c.2872T>C	c.(2872-2874)Tgt>Cgt	p.C958R		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	958					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tccaaaccacatttgttaaca	0.353													G	28540794	A	G	28540794	3	3	618	1	0	0	0	0	1	0	0	0	13968	217	8	3	1109	3	SCAND3	6	28540794	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08		28540794	142574273	21	50894											
KIAA1009	22832	broad.mit.edu	37	chr6	84896099	84896100	+	Frame_Shift_Ins	INS	-	-	A																															tgaagaattaacagttatttINSttttcctcaaaatattaagg																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896099_84896100insA	ENST00000403245.3	-	12	1465_1466	c.1351_1352insT	c.(1351-1353)aaafs	p.K451fs	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Frame_Shift_Ins_p.K375fs	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	451					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		AACAGTTATTTTTTTCCTCAAA	0.307													A	84896100	-	A	84896099	7	5	618	1	0	1	1	0	0	0	0	0	8261	1841	64	0	2923	0	KIAA1009	6	84896099	Frame_Shift_Ins	INS	-	TCGA-HW-7490-01A-11D-2024-08	56355305	84896099	86218968	22	50895	163	2									
KIAA1009	22832	broad.mit.edu	37	chr6	84896105	84896105	+	Missense_Mutation	SNP	C	C	A																															aattaacagttatttttttcCtcaaaatattaaggtacatt																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr6:84896105C>A	ENST00000403245.3	-	12	1460	c.1346G>T	c.(1345-1347)aGg>aTg	p.R449M	KIAA1009_ENST00000461137.1_5'UTR|KIAA1009_ENST00000257766.4_Missense_Mutation_p.R373M	NM_014895.2	NP_055710.2	Q5TB80	QN1_HUMAN	KIAA1009	449					cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding			breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		TATTTTTTTCCTCAAAATATT	0.308													A	84896105	C	A	84896105	3	1	618	1	0	0	0	0	1	0	0	0	8261	681	24	4	2929	4	KIAA1009	6	84896105	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	6	84896105	86218962	23	50896	163	2									
CDK14	5218	broad.mit.edu	37	chr7	90613505	90613505	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatgatccaaggagttgcTgcttttccaggaatgaaaga	14	10	11	6	0	0	3	0	2	0	1	2	6	2	5	2	2	2	3	2	2	4	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:90613505T>A	ENST00000406263.1	+	9	1294	c.852T>A	c.(850-852)gcT>gcA	p.A284A	CDK14_ENST00000265741.3_Silent_p.A312A|CDK14_ENST00000380050.3_Silent_p.A330A|CDK14_ENST00000436577.2_Silent_p.A201A			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	330	Protein kinase.				cell division|G2/M transition of mitotic cell cycle|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	ATP binding|cyclin binding|cyclin-dependent protein kinase activity			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						AAGGAGTTGCTGCTTTTCCAG	0.348													A	90613505	T	A	90613505	2	1	618	1	0	0	0	0	0	0	0	1	3160	1567	55	5		5	CDK14	7	90613505	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08		90613505	68525158	24	50897											
CYP3A7	1551	broad.mit.edu	37	chr7	99312223	99312224	+	Frame_Shift_Del	DEL	TT	TT	-																															tcttttatctgttttacagaTtttgttagaaaacttataac																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:99312223_99312224delTT	ENST00000336374.2	-	8	754_755	c.752_753delAA	c.(751-753)aaafs	p.K251fs		NM_000765.3	NP_000756.2	P24462	CP3A7_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 7	251					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			autonomic_ganglia(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	32	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)					GTTTTACAGATTTTGTTAGAAA	0.312													-	99312224	TT	-	99312223	7	5	618	1	0	1	0	1	0	0	0	0	4214	1490	52	0	782	0	CYP3A7	7	99312223	Frame_Shift_Del	DEL	TT	TCGA-HW-7490-01A-11D-2024-08	8698718	99312223	59826440	25	50898											
GIGYF1	64599	broad.mit.edu	37	chr7	100280314	100280314	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggccgctgctgccGcccccactcttgtctggccc	3	7	10	21	2	2	0	0	0	2	0	2	0	2	0	7	2	3	2	7	2	0	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr7:100280314G>A	ENST00000275732.5	-	20	3708	c.2499C>T	c.(2497-2499)ggC>ggT	p.G833G		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	833										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					CGCTGCTGCCGCCCCCACTCT	0.697													A	100280314	G	A	100280314	2	1	618	1	0	0	0	0	0	0	0	1	6433	1074	38	1		1	GIGYF1	7	100280314	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	968091	100280314	58858349	26	50899											
XKR9	389668	broad.mit.edu	37	chr8	71646066	71646066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttgctgtgctatttctTggtcaactgttgattatcaa	7	19	7	8	0	4	1	2	1	2	0	5	1	4	1	0	1	3	3	0	1	4	6			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:71646066T>C	ENST00000408926.3	+	5	1063	c.529T>C	c.(529-531)Tgg>Cgg	p.W177R	XKR9_ENST00000520030.1_Missense_Mutation_p.W177R|XKR9_ENST00000520273.1_Intron	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	177						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			TGCTATTTCTTGGTCAACTGT	0.299													C	71646066	T	C	71646066	3	2	618	1	0	0	0	0	1	0	0	0	17540	1812	63	3	539	3	XKR9	8	71646066	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08		71646066	74717956	27	50900											
RUNX1T1	862	broad.mit.edu	37	chr8	93026829	93026829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctagtcccagaacgagggtgCgaactctttctcctatctcg	8	11	9	13	3	3	1	0	0	3	1	6	3	4	1	2	1	3	0	2	1	4	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:93026829C>T	ENST00000523629.1	-	4	900	c.446G>A	c.(445-447)cGc>cAc	p.R149H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R149H|RUNX1T1_ENST00000521553.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R122H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R160H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R112H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R112H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R122H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	149	TAFH.				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R160H(1)|p.R112H(1)|p.R149H(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACGAGGGTGCGAACTCTTTC	0.507													T	93026829	C	T	93026829	3	4	618	1	0	0	0	0	1	0	0	0	13838	768	27	1	1404	1	RUNX1T1	8	93026829	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	21380763	93026829	53337193	28	50901											
CDH17	1015	broad.mit.edu	37	chr8	95182644	95182644	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccagtcgttcattctcctgGacctcaaatacggttactgg	8	12	8	13	2	3	0	2	0	1	0	5	1	3	1	3	3	2	2	3	3	3	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr8:95182644G>A	ENST00000027335.3	-	9	1171	c.1047C>T	c.(1045-1047)gtC>gtT	p.V349V	CDH17_ENST00000441892.2_Intron|CDH17_ENST00000450165.2_Silent_p.V349V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	349	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CATTCTCCTGGACCTCAAATA	0.438													A	95182644	G	A	95182644	2	1	618	1	0	0	0	0	0	0	0	1	3132	1161	41	2		2	CDH17	8	95182644	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	2155815	95182644	51181378	29	50902											
RANBP6	26953	broad.mit.edu	37	chr9	6013101	6013102	+	Frame_Shift_Del	DEL	AG	AG	-																															cacattcatcctcatcttgcAgagacatctcaacctgttga																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6013101_6013102delAG	ENST00000259569.5	-	1	2516_2517	c.2506_2507delCT	c.(2506-2508)ctgfs	p.L836fs		NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	836					protein transport	cytoplasm|nucleus	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		CTCATCTTGCAGAGACATCTCA	0.337													-	6013102	AG	-	6013101	7	5	618	1	0	1	0	1	0	0	0	0	13119	188	7	0	814	0	RANBP6	9	6013101	Frame_Shift_Del	DEL	AG	TCGA-HW-7490-01A-11D-2024-08		6013101	135200330	30	50903											
UHRF2	115426	broad.mit.edu	37	chr9	6497275	6497278	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															gaattggagagctggtaagcCagtcagagtgatacgcagtt																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:6497275_6497278delCAGT	ENST00000276893.5	+	11	1850_1853	c.1682_1685delCAGT	c.(1681-1686)ccagtcfs	p.PV561fs	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	561	Methyl-CpG binding and interaction with HDAC1.|YDG.				cell cycle|cell differentiation|cell proliferation|protein autoubiquitination|regulation of cell cycle|ubiquitin-dependent protein catabolic process	nucleus	DNA binding|histone binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GCTGGTAAGCCAGTCAGAGTGATA	0.426													-	6497278	CAGT	-	6497275	7	5	618	1	0	1	0	1	0	0	0	0	17072	594	21	0	1724	0	UHRF2	9	6497275	Frame_Shift_Del	DEL	CAGT	TCGA-HW-7490-01A-11D-2024-08	484174	6497275	134716156	31	50904											
FAM78A	286336	broad.mit.edu	37	chr9	134136482	134136482	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggtgttggtggccacCagccaggtggtgaagctctg	6	9	18	8	0	1	1	0	1	1	0	1	2	1	2	3	6	2	2	3	6	1	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr9:134136482C>T	ENST00000372271.3	-	2	946	c.579G>A	c.(577-579)ctG>ctA	p.L193L	FAM78A_ENST00000372269.3_Silent_p.L190L|FAM78A_ENST00000247295.4_5'UTR	NM_033387.3	NP_203745.2	Q5JUQ0	FA78A_HUMAN	family with sequence similarity 78, member A	193										NS(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)	9	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;2.15e-05)|Epithelial(140;0.000267)		TGGTGGCCACCAGCCAGGTGG	0.617													T	134136482	C	T	134136482	2	4	618	1	0	0	0	0	0	0	0	1	5676	581	21	2		2	FAM78A	9	134136482	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08	127639207	134136482	7076949	32	50905											
NELL1	4745	broad.mit.edu	37	chr11	21135210	21135210	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaccttcctgggttatatcGctgtgactgtgtcccaggat	7	13	10	11	1	0	1	0	1	0	0	3	2	2	2	3	2	1	2	3	2	3	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:21135210G>A	ENST00000298925.5	+	14	1613	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	NELL1_ENST00000325319.5_Missense_Mutation_p.R402H|NELL1_ENST00000532434.1_Missense_Mutation_p.R459H|NELL1_ENST00000357134.5_Missense_Mutation_p.R459H			Q92832	NELL1_HUMAN	NEL-like 1 (chicken)	459	EGF-like 3.				cell adhesion|nervous system development	extracellular region	calcium ion binding|structural molecule activity			NS(1)|breast(3)|endometrium(5)|kidney(3)|large_intestine(15)|lung(36)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	70						GGGTTATATCGCTGTGACTGT	0.398													A	21135210	G	A	21135210	3	1	618	1	0	0	0	0	1	0	0	0	10409	1087	38	1	1426	1	NELL1	11	21135210	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		21135210	113871306	33	50906											
OR4A15	81328	broad.mit.edu	37	chr11	55136122	55136122	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatattacactctcttaagActcagagtttggaagggaaa	14	12	8	7	0	3	2	2	0	1	2	4	4	3	4	0	2	1	1	0	2	5	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55136122A>T	ENST00000314706.3	+	1	763	c.763A>T	c.(763-765)Act>Tct	p.T255S		NM_001005275.1	NP_001005275.1	Q8NGL6	O4A15_HUMAN	olfactory receptor, family 4, subfamily A, member 15	255					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(48)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	71						CTCTCTTAAGACTCAGAGTTT	0.438													T	55136122	A	T	55136122	3	4	618	1	0	0	0	0	1	0	0	0	11116	275	10	5	765	5	OR4A15	11	55136122	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	34000912	55136122	79870394	34	50907											
OR5D16	390144	broad.mit.edu	37	chr11	55606760	55606760	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttcaacacaatcaatcAtttcttctgtgagttatcct	10	17	5	9	0	5	1	3	1	2	0	6	1	6	1	1	1	1	2	1	1	4	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:55606760A>G	ENST00000378396.1	+	1	533	c.533A>G	c.(532-534)cAt>cGt	p.H178R		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	178					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				ACAATCAATCATTTCTTCTGT	0.423													G	55606760	A	G	55606760	3	3	618	1	0	0	0	0	1	0	0	0	11232	217	8	3	535	3	OR5D16	11	55606760	Missense_Mutation	SNP	A	TCGA-HW-7490-01A-11D-2024-08	470638	55606760	79399756	35	50908											
NPAS4	266743	broad.mit.edu	37	chr11	66192121	66192121	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggtaatggggactgcaCgctcttggccctagcccagc	6	8	12	15	1	1	0	0	0	1	0	1	1	1	1	3	4	3	3	3	4	2	3	rs142965018	byFrequency	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:66192121C>T	ENST00000311034.2	+	7	1936	c.1760C>T	c.(1759-1761)aCg>aTg	p.T587M		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	587					transcription, DNA-dependent		DNA binding|signal transducer activity			breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GGGGACTGCACGCTCTTGGCC	0.607													T	66192121	C	T	66192121	3	4	618	1	0	0	0	0	1	0	0	0	10641	536	19	1	1786	1	NPAS4	11	66192121	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	10585361	66192121	68814395	36	50909											
MMP1	4312	broad.mit.edu	37	chr11	102666337	102666337	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaacacgatgtaagttgtaCtctaaaaaggccaataaatc	17	9	7	8	1	1	0	0	0	1	0	2	1	1	0	1	1	2	4	1	1	9	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:102666337C>T	ENST00000315274.6	-	5	694	c.627G>A	c.(625-627)gaG>gaA	p.E209E	WTAPP1_ENST00000525739.2_RNA	NM_001145938.1|NM_002421.3	NP_001139410.1|NP_002412.1	P03956	MMP1_HUMAN	matrix metallopeptidase 1 (interstitial collagenase)	209	Metalloprotease.				blood coagulation|collagen catabolic process|interspecies interaction between organisms|leukocyte migration|proteolysis	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(2)|lung(18)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	30	all_epithelial(12;0.0127)	all_neural(303;0.000318)|all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.072)|Lung(13;0.0828)|LUSC - Lung squamous cell carcinoma(19;0.151)|all cancers(10;0.233)	OV - Ovarian serous cystadenocarcinoma(223;1.82e-07)|Epithelial(105;1.51e-06)|BRCA - Breast invasive adenocarcinoma(274;0.014)		GTAAGTTGTACTCTAAAAAGG	0.368													T	102666337	C	T	102666337	5	4	618	1	0	0	0	0	0	0	1	0	9723	579	20	2	806	2	MMP1	11	102666337	Splice_Site	SNP	C	TCGA-HW-7490-01A-11D-2024-08	36474216	102666337	32340179	37	50910											
ZNF259	8882	broad.mit.edu	37	chr11	116656309	116656309	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcatctttctgaggagcaTgtgggttttccacaaaactg	10	13	9	9	0	3	1	1	1	2	0	4	2	4	2	1	2	2	2	1	2	2	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr11:116656309T>C	ENST00000227322.3	-	6	685	c.626A>G	c.(625-627)cAt>cGt	p.H209R		NM_003904.3	NP_003895.1	O75312	ZPR1_HUMAN	zinc finger protein 259	209					cell proliferation|signal transduction	cytoplasm|nucleolus				breast(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.61e-06)|all cancers(92;0.000139)|OV - Ovarian serous cystadenocarcinoma(223;0.153)		CTGAGGAGCATGTGGGTTTTC	0.458													C	116656309	T	C	116656309	3	2	618	1	0	0	0	0	1	0	0	0	17902	1464	51	3	789	3	ZNF259	11	116656309	Missense_Mutation	SNP	T	TCGA-HW-7490-01A-11D-2024-08	13989972	116656309	18350207	38	50911											
GRIN2B	2904	broad.mit.edu	37	chr12	13716801	13716801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgtagcccttccttgtccCtgaagtagcgcttgtggtca	5	12	10	14	2	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	3	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:13716801C>T	ENST00000609686.1	-	13	3580	c.3371G>A	c.(3370-3372)aGg>aAg	p.R1124K		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	TTCCTTGTCCCTGAAGTAGCG	0.617													T	13716801	C	T	13716801	3	4	618	1	0	0	0	0	1	0	0	0	6835	681	24	2	1087	2	GRIN2B	12	13716801	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		13716801	120135094	39	50912											
KRT84	3890	broad.mit.edu	37	chr12	52777394	52777394	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcttcttgaagccctctagGacatcctgcaggtggttcct	6	14	9	12	0	3	1	0	1	3	0	5	2	5	2	3	3	2	2	3	3	2	5			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:52777394G>A	ENST00000257951.3	-	2	801	c.735C>T	c.(733-735)gtC>gtT	p.V245V	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		AGCCCTCTAGGACATCCTGCA	0.577													A	52777394	G	A	52777394	2	1	618	1	0	0	0	0	0	0	0	1	8556	1161	41	2		2	KRT84	12	52777394	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	39060593	52777394	81074501	40	50913											
ACAD10	80724	broad.mit.edu	37	chr12	112193513	112193513	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattaaaatggtcgccccGtccatggcctcccgagtgat	9	10	10	12	3	0	2	0	2	0	0	3	3	2	2	5	2	0	0	5	2	2	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr12:112193513G>A	ENST00000546840.2	+	2	68	c.68G>A	c.(67-69)cGt>cAt	p.R23H	ACAD10_ENST00000455480.2_Silent_p.P1032P|ACAD10_ENST00000313698.4_Silent_p.P1001P																							TGGTCGCCCCGTCCATGGCCT	0.517													A	112193513	G	A	112193513	3	1	618	1	0	0	0	0	1	0	0	0	108	1132	40	1	3174	1	ACAD10	12	112193513	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	59416119	112193513	21658382	41	50914											
FRY	10129	broad.mit.edu	37	chr13	32852686	32852686	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caggggactccgaagaaaagGtaataaaagcctgttagaat	17	7	11	6	1	0	2	0	0	0	2	1	4	1	3	2	3	1	2	2	3	8	3			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr13:32852686G>C	ENST00000380250.3	+	58	8965		c.e58+1		FRY_ENST00000542859.1_Splice_Site	NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		CGAAGAAAAGGTAATAAAAGC	0.443													C	32852686	G	C	32852686	5	2	618	1	0	0	0	0	0	0	1	0	6115	1275	44	4	8700	4	FRY	13	32852686	Splice_Site	SNP	G	TCGA-HW-7490-01A-11D-2024-08		32852686	82317192	42	50915											
GPX2	2877	broad.mit.edu	37	chr14	65406296	65406296	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcggaagggctctccctcCggccctatgaggaacttctc	6	9	11	15	3	2	1	0	1	2	0	6	3	3	3	3	4	1	1	3	4	3	2	rs17885748		TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr14:65406296C>T	ENST00000389614.5	-	2	569	c.483G>A	c.(481-483)ccG>ccA	p.P161P	FNTB_ENST00000542227.1_Intron|FNTB_ENST00000447296.2_Intron|CHURC1-FNTB_ENST00000549987.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	161					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GCTCTCCCTCCGGCCCTATGA	0.537													T	65406296	C	T	65406296	2	4	618	1	0	0	0	0	0	0	0	1	6795	639	23	1		1	GPX2	14	65406296	Silent	SNP	C	TCGA-HW-7490-01A-11D-2024-08		65406296	41943244	43	50916											
RAB27A	5873	broad.mit.edu	37	chr15	55497820	55497820	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtccacacaccgttccattCgcttcattatcaggtccaga	9	12	6	14	2	2	1	2	0	0	1	6	1	5	1	4	1	0	2	4	1	1	4	rs141362723	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:55497820C>T	ENST00000396307.2	-	6	802	c.551G>A	c.(550-552)cGa>cAa	p.R184Q	RAB27A_ENST00000569493.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000564609.1_Missense_Mutation_p.R184Q|RAB27A_ENST00000336787.1_Missense_Mutation_p.R184Q	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	184					small GTPase mediated signal transduction	dendrite|exocytic vesicle|late endosome|lysosome|melanosome	GTP binding|GTPase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		CCGTTCCATTCGCTTCATTAT	0.463													T	55497820	C	T	55497820	3	4	618	1	0	0	0	0	1	0	0	0	13002	884	31	1	118	1	RAB27A	15	55497820	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		55497820	47033572	44	50917											
BTBD1	53339	broad.mit.edu	37	chr15	83718894	83718895	+	Frame_Shift_Del	DEL	AA	AA	-																															tttgtctattgtatctagacAaagactagcaagctgaggtt																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr15:83718894_83718895delAA	ENST00000261721.4	-	3	796_797	c.594_595delTT	c.(592-597)ctttgtfs	p.C199fs	RP11-382A20.7_ENST00000570202.1_RNA|BTBD1_ENST00000379403.2_Frame_Shift_Del_p.C199fs|RP11-382A20.6_ENST00000568441.1_RNA|RP11-382A20.5_ENST00000566841.1_RNA	NM_001011885.1|NM_025238.3	NP_001011885.1|NP_079514.1	Q9H0C5	BTBD1_HUMAN	BTB (POZ) domain containing 1	199						cytoplasmic mRNA processing body|protein complex	protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)	10				all cancers(203;0.000186)		GTATCTAGACAAAGACTAGCAA	0.312													-	83718895	AA	-	83718894	7	5	618	1	0	1	0	1	0	0	0	0	1546	130	5	0	877	0	BTBD1	15	83718894	Frame_Shift_Del	DEL	AA	TCGA-HW-7490-01A-11D-2024-08	28221074	83718894	18812498	45	50918											
HSDL1	83693	broad.mit.edu	37	chr16	84163854	84163854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cttcagggcttctcgaattgGaaggtagatctcacgaccgc	9	10	11	11	3	3	1	2	0	2	1	5	4	3	2	1	3	0	2	1	3	3	4			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:84163854G>A	ENST00000219439.4	-	4	579	c.403C>T	c.(403-405)Cca>Tca	p.P135S	HSDL1_ENST00000434463.3_Intron	NM_001146051.1|NM_031463.4	NP_001139523.1|NP_113651.4	Q3SXM5	HSDL1_HUMAN	hydroxysteroid dehydrogenase like 1	135						mitochondrion	oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						TCTCGAATTGGAAGGTAGATC	0.473													A	84163854	G	A	84163854	3	1	618	1	0	0	0	0	1	0	0	0	7448	1174	41	2	601	2	HSDL1	16	84163854	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08		84163854	6190899	46	50919											
APRT	353	broad.mit.edu	37	chr16	88876924	88876924	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagcccagtccaagctcctgGgccagggaggggccaaagag	10	3	15	13	0	0	1	0	0	0	1	2	2	2	2	5	4	2	1	5	4	2	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr16:88876924G>A	ENST00000378364.3	-	3	272	c.228C>T	c.(226-228)gcC>gcT	p.A76A	APRT_ENST00000563655.1_Intron|APRT_ENST00000426324.2_Silent_p.A76A	NM_000485.2	NP_000476.1	P07741	APT_HUMAN	adenine phosphoribosyltransferase	76					purine ribonucleoside salvage	cytosol|nucleus	adenine phosphoribosyltransferase activity|AMP binding|protein binding			cervix(1)|endometrium(1)|liver(1)	3				BRCA - Breast invasive adenocarcinoma(80;0.0477)	Adenine(DB00173)|Adenosine monophosphate(DB00131)	CAAGCTCCTGGGCCAGGGAGG	0.637													A	88876924	G	A	88876924	2	1	618	1	0	0	0	0	0	0	0	1	822	1219	43	2		2	APRT	16	88876924	Silent	SNP	G	TCGA-HW-7490-01A-11D-2024-08	4713070	88876924	1477829	47	50920											
PHF23	79142	broad.mit.edu	37	chr17	7139547	7139547	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctggggaggcccaggaggTgggagtctatccccccgttc	5	7	16	13	1	1	0	0	0	1	0	3	3	2	3	5	6	0	1	5	6	1	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7139547T>C	ENST00000320316.3	-	4	925	c.699A>G	c.(697-699)ccA>ccG	p.P233P	PHF23_ENST00000571362.1_Silent_p.P166P|PHF23_ENST00000454255.2_Silent_p.P229P|PHF23_ENST00000576955.1_Silent_p.P103P	NM_001284518.1|NM_024297.2	NP_001271447.1|NP_077273.2	Q9BUL5	PHF23_HUMAN	PHD finger protein 23	233							zinc ion binding			breast(4)|kidney(2)|large_intestine(6)|lung(3)	15						GCCCAGGAGGTGGGAGTCTAT	0.552													C	7139547	T	C	7139547	2	2	618	1	0	0	0	0	0	0	0	1	11912	1683	59	3		3	PHF23	17	7139547	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08		7139547	74055663	48	50921											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	618	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	437573	7577120	73618090	49	50922											
MYO18A	399687	broad.mit.edu	37	chr17	27430667	27430667	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagatccaagcactccaGcagctcctccactgcctgtg	8	8	7	18	0	0	1	0	0	0	1	5	1	5	1	6	0	4	3	6	0	1	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:27430667G>C	ENST00000527372.1	-	21	3637	c.3457C>G	c.(3457-3459)Ctg>Gtg	p.L1153V	MYO18A_ENST00000354329.4_Missense_Mutation_p.L1153V|MYO18A_ENST00000531253.1_Missense_Mutation_p.L1153V|MYO18A_ENST00000533112.1_Missense_Mutation_p.L1153V	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1153	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			AAGCACTCCAGCAGCTCCTCC	0.667													C	27430667	G	C	27430667	3	2	618	1	0	0	0	0	1	0	0	0	10141	962	34	4	2795	4	MYO18A	17	27430667	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	19853547	27430667	53764543	50	50923											
KIF2B	84643	broad.mit.edu	37	chr17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagcagcgggaaaagcGcaggcggctgcagcaggaga	12	1	19	9	3	0	1	0	0	0	1	0	4	0	3	0	5	5	6	0	5	2	0			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547													A	51900882	G	A	51900882	3	1	618	1	0	0	0	0	1	0	0	0	8356	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-HW-7490-01A-11D-2024-08	24470215	51900882	29294328	51	50924											
AKAP8	10270	broad.mit.edu	37	chr19	15471767	15471769	+	In_Frame_Del	DEL	GAA	GAA	-																															tgagcagcctcgatcttcttGaagaagtgctcctggccaat																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:15471767_15471769delGAA	ENST00000269701.2	-	12	1477_1479	c.1417_1419delTTC	c.(1417-1419)ttcdel	p.F473del		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	473					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						CGATCTTCTTGAAGAAGTGCTCC	0.571													-	15471769	GAA	-	15471767	7	5	618	1	0	1	0	1	0	0	0	0	457	1281	45	0	671	0	AKAP8	19	15471767	In_Frame_Del	DEL	GAA	TCGA-HW-7490-01A-11D-2024-08		15471767	43657216	52	50925											
CEACAM4	1089	broad.mit.edu	37	chr19	42128032	42128032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aagctgcggtaccttccagtCctggagagaagcagaaaaca	14	6	11	10	1	0	2	0	0	0	2	2	4	2	3	3	2	5	3	3	2	5	2			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:42128032C>A	ENST00000221954.2	-	3	644	c.534G>T	c.(532-534)agG>agT	p.R178S	CEACAM4_ENST00000600925.1_Missense_Mutation_p.R178S	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	178						integral to plasma membrane|membrane fraction				NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						ACCTTCCAGTCCTGGAGAGAA	0.652													A	42128032	C	A	42128032	3	1	618	1	0	0	0	0	1	0	0	0	3224	854	30	4	220	4	CEACAM4	19	42128032	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	26656265	42128032	17000951	53	50926											
LENG9	94059	broad.mit.edu	37	chr19	54973460	54973461	+	Frame_Shift_Del	DEL	TG	TG	-																															ggtgcagctgccctggagacTgtagtgtactcagcccctcg																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr19:54973460_54973461delTG	ENST00000333834.4	-	1	1433_1434	c.1315_1316delCA	c.(1315-1317)cagfs	p.Q439fs		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	439					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CCCTGGAGACTGTAGTGTACTC	0.644													-	54973461	TG	-	54973460	7	5	618	1	0	1	0	1	0	0	0	0	8784	1580	55	0	193	0	LENG9	19	54973460	Frame_Shift_Del	DEL	TG	TCGA-HW-7490-01A-11D-2024-08	12845428	54973460	4155523	54	50927											
EPB41L1	2036	broad.mit.edu	37	chr20	34761743	34761745	+	In_Frame_Del	DEL	AGG	AGG	-																															ctctgaggtgaagaaagctcAggaggaggccccgcagcagc																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chr20:34761743_34761745delAGG	ENST00000338074.2	+	2	205_207	c.44_46delAGG	c.(43-48)caggag>cag	p.E17del	EPB41L1_ENST00000373941.1_In_Frame_Del_p.E17del|EPB41L1_ENST00000373950.2_Intron|EPB41L1_ENST00000373946.3_Intron|EPB41L1_ENST00000202028.5_Intron|EPB41L1_ENST00000441639.1_Intron	NM_001258329.1|NM_012156.2	NP_001245258.1|NP_036288.2	Q9H4G0	E41L1_HUMAN	erythrocyte membrane protein band 4.1-like 1	17					cortical actin cytoskeleton organization|synaptic transmission	cytoskeleton|cytosol|extrinsic to membrane|plasma membrane	actin binding|structural molecule activity			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(10)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	37	Breast(12;0.0239)					AAGAAAGCTCAGGAGGAGGCCCC	0.626													-	34761745	AGG	-	34761743	7	5	618	1	0	1	0	1	0	0	0	0	5193	188	7	0	46	0	EPB41L1	20	34761743	In_Frame_Del	DEL	AGG	TCGA-HW-7490-01A-11D-2024-08		34761743	28263777	55	50928											
USP9X	8239	broad.mit.edu	37	chrX	41088882	41088884	+	In_Frame_Del	DEL	AAG	AAG	-																															tggcttggagatgaacttgaAagaagaccatatactggcaa																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:41088882_41088884delAAG	ENST00000324545.8	+	43	7914_7916	c.7281_7283delAAG	c.(7279-7284)gaaaga>gaa	p.R2429del	USP9X_ENST00000378308.2_In_Frame_Del_p.R2429del	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ATGAACTTGAAAGAAGACCATAT	0.404													-	41088884	AAG	-	41088882	7	5	618	1	0	1	0	1	0	0	0	0	17192	11	1	0	7447	0	USP9X	23	41088882	In_Frame_Del	DEL	AAG	TCGA-HW-7490-01A-11D-2024-08		41088882	114181678	56	50929											
ATRX	546	broad.mit.edu	37	chrX	76918976	76918977	+	Frame_Shift_Del	DEL	TA	TA	-																															caatttgtgccgcaaaagccTatgtctgtatcttggcttct																										TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:76918976_76918977delTA	ENST00000373344.5	-	12	4228_4229	c.4014_4015delTA	c.(4012-4017)cataggfs	p.HR1338fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.HR1300fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1338					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)	CGCAAAAGCCTATGTCTGTATC	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76918977	TA	-	76918976	7	5	618	1	0	1	0	1	0	0	0	0	1213	1521	53	0	3559	0	ATRX	23	76918976	Frame_Shift_Del	DEL	TA	TCGA-HW-7490-01A-11D-2024-08	35830094	76918976	78351584	57	50930											
LAMP2	3920	broad.mit.edu	37	chrX	119573053	119573053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttttcttctgccaattaCgtaagcaatcactataacga	13	14	4	10	2	3	0	1	0	2	0	3	1	3	0	1	0	4	2	1	0	6	7			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:119573053C>T	ENST00000371335.4	-	9	1325	c.1189G>A	c.(1189-1191)Gta>Ata	p.V397I	LAMP2_ENST00000200639.4_Intron|LAMP2_ENST00000538785.1_Intron|LAMP2_ENST00000540603.1_Missense_Mutation_p.V350I|LAMP2_ENST00000434600.2_Intron	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	397					platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane		p.V397I(1)		endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CTGCCAATTACGTAAGCAATC	0.383													T	119573053	C	T	119573053	3	4	618	1	0	0	0	0	1	0	0	0	8677	536	19	1	338	1	LAMP2	23	119573053	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08	42654077	119573053	35697507	58	50931											
FRMD7	90167	broad.mit.edu	37	chrX	131214037	131214037	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attttcagaaaccttacttgTtttgacacatcagagaggag	13	13	8	7	0	2	3	2	1	0	2	2	5	2	4	1	1	2	1	1	1	2	6			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrX:131214037T>C	ENST00000298542.4	-	11	1222	c.1047A>G	c.(1045-1047)aaA>aaG	p.K349K	FRMD7_ENST00000370879.1_Silent_p.K229K|FRMD7_ENST00000464296.1_Silent_p.K334K	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	349					regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					ACCTTACTTGTTTTGACACAT	0.398													C	131214037	T	C	131214037	2	2	618	1	0	0	0	0	0	0	0	1	6107	1722	60	3		3	FRMD7	23	131214037	Silent	SNP	T	TCGA-HW-7490-01A-11D-2024-08	11640984	131214037	24056523	59	50932											
RPS4Y2	140032	broad.mit.edu	37	chrY	22930744	22930744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacaaagggaattccacaCctggtgactcatgatgctcg	11	8	12	10	1	1	2	1	2	0	0	3	4	2	4	2	3	1	1	2	3	2	1			TCGA-HW-7490-01A-11D-2024-08	TCGA-HW-7490-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca68843d-1087-4efa-b5f8-0acd8982fb3b	855988d0-f042-466d-86a8-1ac1cb1bc7a1	g.chrY:22930744C>A	ENST00000288666.5	+	5	414	c.414C>A	c.(412-414)caC>caA	p.H138Q		NM_001039567.2	NP_001034656.1	Q8TD47	RS4Y2_HUMAN	ribosomal protein S4, Y-linked 2	138					translation	ribosome	rRNA binding|structural constituent of ribosome			lung(2)	2						GAATTCCACACCTGGTGACTC	0.438													A	22930744	C	A	22930744	3	1	618	1	0	0	0	0	1	0	0	0	13738	506	18	4	432	4	RPS4Y2	24	22930744	Missense_Mutation	SNP	C	TCGA-HW-7490-01A-11D-2024-08		22930744	36442822	60	50933											
PADI6	353238	broad.mit.edu	37	chr1	17723476	17723477	+	RNA	INS	-	-	CA																															cactggcccaggaatgcaccINScaggtggctgggcctggccc																								rs67024576	by1000genomes	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:17723476_17723477insCA	ENST00000434762.2	+	0	1669							Q6TGC4	PADI6_HUMAN	peptidyl arginine deiminase, type VI						peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm|nucleus	calcium ion binding|protein-arginine deiminase activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(2)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;7.59e-06)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.0134)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	AGGAATGCACCCAGGTGGCTGG	0.629													CA	17723477	-	CA	17723476	6	5	619	0	1	1	1	0	0	0	0	0	11457	638	22	0		0	PADI6	1	17723476	RNA	INS	-	TCGA-HW-7491-01A-11D-2024-08		17723476	231527145	1	50934											
PSMD4	5710	broad.mit.edu	37	chr1	151237660	151237660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggtgaaactggctaaaCgcctcaagaaggagaaagta	16	6	12	7	1	1	3	1	1	0	2	1	4	1	3	1	3	3	3	1	3	7	2			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr1:151237660C>T	ENST00000368884.3	+	5	468	c.388C>T	c.(388-390)Cgc>Tgc	p.R130C	PSMD4_ENST00000368881.4_Missense_Mutation_p.R130C	NM_002810.2	NP_002801.1	P55036	PSMD4_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 4	130	VWFA.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|lung(7)	11	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			ACTGGCTAAACGCCTCAAGAA	0.443													T	151237660	C	T	151237660	3	4	619	1	0	0	0	0	1	0	0	0	12785	536	19	1	406	1	PSMD4	1	151237660	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08	133514184	151237660	98012961	2	50935											
TTC7A	57217	broad.mit.edu	37	chr2	47220609	47220609	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaacatcgtgaagggcatgaGagagctccgggaggtgctgc	10	6	17	8	2	0	3	0	2	0	1	2	6	1	4	1	3	4	3	1	3	2	0			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:47220609G>A	ENST00000319190.5	+	6	1153	c.785G>A	c.(784-786)aGa>aAa	p.R262K	TTC7A_ENST00000263737.6_5'UTR|TTC7A_ENST00000409245.1_Missense_Mutation_p.R228K|TTC7A_ENST00000394850.2_Missense_Mutation_p.R262K|TTC7A_ENST00000461601.1_3'UTR	NM_020458.2	NP_065191.2	Q9ULT0	TTC7A_HUMAN	tetratricopeptide repeat domain 7A	262							binding			breast(4)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.18)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			AAGGGCATGAGAGAGCTCCGG	0.547													A	47220609	G	A	47220609	3	1	619	1	0	0	0	0	1	0	0	0	16814	942	33	2	807	2	TTC7A	2	47220609	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		47220609	195978764	3	50936											
AGPS	8540	broad.mit.edu	37	chr2	178386040	178386040	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgcttgtatctacttctatTttgcctttaactacagggga	8	17	8	8	0	2	0	0	0	2	0	2	1	2	1	1	2	5	2	1	2	5	10			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr2:178386040T>G	ENST00000264167.4	+	18	1887	c.1741T>G	c.(1741-1743)Ttt>Gtt	p.F581V	AGPS_ENST00000409888.1_Intron	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	581					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CTACTTCTATTTTGCCTTTAA	0.383													G	178386040	T	G	178386040	3	3	619	1	0	0	0	0	1	0	0	0	394	1841	64	5	1811	5	AGPS	2	178386040	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	131165431	178386040	64813333	4	50937											
SCN10A	6336	broad.mit.edu	37	chr3	38739794	38739794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctggaagttgaacatgtcGtcgatgccagcctcccacct	8	10	10	13	2	1	1	0	1	1	0	4	3	2	2	4	1	3	1	4	1	2	1	rs142804903		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:38739794G>A	ENST00000449082.2	-	27	4916	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1639					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGAACATGTCGTCGATGCCAG	0.547													A	38739794	G	A	38739794	2	1	619	1	0	0	0	0	0	0	0	1	14005	1136	40	1		1	SCN10A	3	38739794	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		38739794	159282636	5	50938											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916940	GAA	-	178916938	7	5	619	1	0	1	0	1	0	0	0	0	11990	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-HW-7491-01A-11D-2024-08	140177144	178916938	19105492	6	50939											
TINAG	27283	broad.mit.edu	37	chr6	54191662	54191662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatggttttaaatttcGccttggcactttgccaccta	10	14	8	9	1	0	2	0	0	0	2	1	2	0	2	3	2	1	2	3	2	4	6			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr6:54191662G>A	ENST00000259782.4	+	4	668	c.572G>A	c.(571-573)cGc>cAc	p.R191H	TINAG_ENST00000370869.3_Missense_Mutation_p.R187H|TINAG_ENST00000370864.3_Missense_Mutation_p.R173H	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	191					cell adhesion|immune response|Malpighian tubule morphogenesis|proteolysis	basement membrane	cysteine-type endopeptidase activity|nucleotide binding|polysaccharide binding|scavenger receptor activity	p.R191H(1)|p.R191L(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			TTTAAATTTCGCCTTGGCACT	0.373													A	54191662	G	A	54191662	3	1	619	1	0	0	0	0	1	0	0	0	16021	1087	38	1	586	1	TINAG	6	54191662	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		54191662	116923405	7	50940											
LAMB4	22798	broad.mit.edu	37	chr7	107748127	107748127	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttggagtcacaaacaatGtctcccactccctgggcctg	9	11	8	13	0	2	0	1	0	1	0	4	1	3	1	3	2	1	0	3	2	3	2			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:107748127G>T	ENST00000388781.3	-	6	623	c.540C>A	c.(538-540)gaC>gaA	p.D180E	LAMB4_ENST00000418464.1_Missense_Mutation_p.D180E|LAMB4_ENST00000414450.2_Missense_Mutation_p.D180E|LAMB4_ENST00000205386.4_Missense_Mutation_p.D180E|LAMB4_ENST00000388780.3_Missense_Mutation_p.D180E	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	180	Laminin N-terminal.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						CACAAACAATGTCTCCCACTC	0.398													T	107748127	G	T	107748127	3	4	619	1	0	0	0	0	1	0	0	0	8672	1368	48	4	4861	4	LAMB4	7	107748127	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		107748127	51390536	8	50941											
SLC37A3	84255	broad.mit.edu	37	chr7	140058508	140058508	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagtggactgcagcaggccGttcacaatccacaggcagca	11	5	11	14	1	1	0	1	0	0	0	2	1	2	1	3	3	3	5	3	3	1	1	rs142313913	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr7:140058508G>A	ENST00000326232.9	-	6	656	c.453C>T	c.(451-453)aaC>aaT	p.N151N	SLC37A3_ENST00000340308.3_Silent_p.N151N|SLC37A3_ENST00000447932.2_Silent_p.N151N|SLC37A3_ENST00000461089.1_5'UTR|SLC37A3_ENST00000429996.2_Intron	NM_207113.1	NP_996996.1	Q8NCC5	SPX3_HUMAN	solute carrier family 37, member 3	151					carbohydrate transport|transmembrane transport	integral to membrane				endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|stomach(3)	24	Melanoma(164;0.0142)					GCAGCAGGCCGTTCACAATCC	0.512													A	140058508	G	A	140058508	2	1	619	1	0	0	0	0	0	0	0	1	14693	1136	40	1		1	SLC37A3	7	140058508	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08	32310381	140058508	19080155	9	50942											
VPS13A	23230	broad.mit.edu	37	chr9	79936584	79936584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggagaaagtttaagtatgGattatatccgaaccaaggac	16	10	10	5	1	0	1	0	0	0	1	1	5	1	3	2	3	1	2	2	3	7	5			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:79936584G>A	ENST00000360280.3	+	44	6012	c.5752G>A	c.(5752-5754)Gat>Aat	p.D1918N	VPS13A_ENST00000357409.5_Missense_Mutation_p.D1918N|VPS13A_ENST00000376634.4_Missense_Mutation_p.D1918N|VPS13A_ENST00000376636.3_Missense_Mutation_p.D1879N	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	1918					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TTTAAGTATGGATTATATCCG	0.338													A	79936584	G	A	79936584	3	1	619	1	0	0	0	0	1	0	0	0	17291	1174	41	2	5926	2	VPS13A	9	79936584	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		79936584	61276847	10	50943											
NR4A3	8013	broad.mit.edu	37	chr9	102590616	102590618	+	In_Frame_Del	DEL	CAC	CAC	-																															cgcccagctaccatcaccatCaccaccaccaccaccaccac																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr9:102590616_102590618delCAC	ENST00000330847.1	+	2	369_371	c.325_327delCAC	c.(325-327)cacdel	p.H119del	NR4A3_ENST00000338488.4_In_Frame_Del_p.H108del|NR4A3_ENST00000395097.2_In_Frame_Del_p.H108del			Q92570	NR4A3_HUMAN	nuclear receptor subfamily 4, group A, member 3	108					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor		steroid hormone receptor activity|thyroid hormone receptor activity|zinc ion binding		TCF12/NR4A3(2)|TAF15/NR4A3(33)|EWSR1/NR4A3(146)|TFG/NR4A3(2)				Acute lymphoblastic leukemia(62;0.0559)|all_hematologic(171;0.189)				ccatcaccatcaccaccaccacc	0.616			T	EWSR1	extraskeletal myxoid chondrosarcoma								-	102590618	CAC	-	102590616	7	5	619	1	0	1	0	1	0	0	0	0	10710	826	29	0	331	0	NR4A3	9	102590616	In_Frame_Del	DEL	CAC	TCGA-HW-7491-01A-11D-2024-08	22654032	102590616	38622815	11	50944											
OR6Q1	219952	broad.mit.edu	37	chr11	57799000	57799000	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccttgctagccttgtcGtgctcagatgtcacttggaa	7	13	9	12	1	3	1	3	0	0	1	4	2	3	2	2	1	3	2	2	1	2	4			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:57799000G>A	ENST00000302622.3	+	1	599	c.576G>A	c.(574-576)tcG>tcA	p.S192S	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	192					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TAGCCTTGTCGTGCTCAGATG	0.498													A	57799000	G	A	57799000	2	1	619	1	0	0	0	0	0	0	0	1	11284	1132	40	1		1	OR6Q1	11	57799000	Silent	SNP	G	TCGA-HW-7491-01A-11D-2024-08		57799000	77207516	12	50945											
CRYAB	1410	broad.mit.edu	37	chr11	111780950	111780950	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcccgactgttatggcttGggactggaatgtagccagcc	8	10	13	10	1	0	0	0	0	0	0	1	4	1	2	3	3	2	3	3	3	3	3			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr11:111780950G>T	ENST00000533971.1	-	2	516	c.425C>A	c.(424-426)cCa>cAa	p.P142Q	CRYAB_ENST00000533280.1_Intron|CRYAB_ENST00000527950.1_Intron|CRYAB_ENST00000227251.3_Intron|CRYAB_ENST00000533475.1_Intron|CRYAB_ENST00000531198.1_Intron|CRYAB_ENST00000526180.1_Intron|CRYAB_ENST00000525823.1_Intron			P02511	CRYAB_HUMAN	crystallin, alpha B	0					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding			endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		GTTATGGCTTGGGACTGGAAT	0.418													T	111780950	G	T	111780950	3	4	619	1	0	0	0	0	1	0	0	0	3937	1363	47	4		4	CRYAB	11	111780950	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08	53981950	111780950	23225566	13	50946											
CMKLR1	1240	broad.mit.edu	37	chr12	108685742	108685742	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttagagcattgaccaggCgagagaagagggccaccttg	12	6	13	10	1	0	4	0	1	0	3	0	6	0	4	3	2	1	1	3	2	2	3			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr12:108685742C>T	ENST00000312143.7	-	3	1361	c.998G>A	c.(997-999)cGc>cAc	p.R333H	CMKLR1_ENST00000552995.1_Missense_Mutation_p.R331H|CMKLR1_ENST00000550402.1_Missense_Mutation_p.R333H|CMKLR1_ENST00000397688.2_Missense_Mutation_p.R331H|CMKLR1_ENST00000412676.1_Missense_Mutation_p.R333H	NM_001142344.1|NM_004072.2	NP_001135816.1|NP_004063.1	Q99788	CML1_HUMAN	chemokine-like receptor 1	333					chemotaxis|immune response|negative regulation of interleukin-12 production|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage chemotaxis|regulation of calcium-mediated signaling|skeletal system development	integral to plasma membrane	chemokine receptor activity			endometrium(5)|large_intestine(3)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	37						ATTGACCAGGCGAGAGAAGAG	0.483													T	108685742	C	T	108685742	3	4	619	1	0	0	0	0	1	0	0	0	3610	768	27	1	127	1	CMKLR1	12	108685742	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		108685742	25166153	14	50947											
UTP14C	9724	broad.mit.edu	37	chr13	52605154	52605154	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aaagcagaggatgtgggctaCcagtcttcctcaaggtcaga	12	8	12	9	0	3	2	2	0	1	2	4	3	4	3	2	3	2	2	2	3	3	2	rs141049018	byFrequency	TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:52605154C>G	ENST00000521776.2	+	2	2947	c.2214C>G	c.(2212-2214)taC>taG	p.Y738*		NM_021645.5	NP_067677.4	Q5TAP6	UT14C_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog C (yeast)	738					cell differentiation|meiosis|multicellular organismal development|rRNA processing|spermatogenesis	nucleolus|small-subunit processome				breast(4)|cervix(1)|endometrium(1)|large_intestine(10)|lung(10)|ovary(3)|skin(1)|stomach(1)|urinary_tract(1)	32		Breast(56;0.00173)|Lung NSC(96;0.0108)|Prostate(109;0.0412)|Hepatocellular(98;0.152)|Glioma(44;0.236)		GBM - Glioblastoma multiforme(99;2.3e-08)		ATGTGGGCTACCAGTCTTCCT	0.483													G	52605154	C	G	52605154	4	3	619	1	0	0	0	0	0	1	0	0	17198	518	18	4	2216	4	UTP14C	13	52605154	Nonsense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		52605154	62564724	15	50948											
SLITRK6	84189	broad.mit.edu	37	chr13	86370348	86370348	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctatctcaatatctgcaataTtgttaaatccaaggtgtatt	13	16	5	7	0	2	0	1	0	2	0	4	0	3	0	1	1	1	3	1	1	9	7			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr13:86370348T>C	ENST00000400286.2	-	2	894	c.296A>G	c.(295-297)aAt>aGt	p.N99S		NM_032229.2	NP_115605.2	Q9H5Y7	SLIK6_HUMAN	SLIT and NTRK-like family, member 6	99						integral to membrane				breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(18)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_neural(89;0.117)|Medulloblastoma(90;0.163)			GBM - Glioblastoma multiforme(99;0.0456)		ATCTGCAATATTGTTAAATCC	0.353													C	86370348	T	C	86370348	3	2	619	1	0	0	0	0	1	0	0	0	14841	1493	52	3	2233	3	SLITRK6	13	86370348	Missense_Mutation	SNP	T	TCGA-HW-7491-01A-11D-2024-08	33765194	86370348	28799530	16	50949											
TRIM9	114088	broad.mit.edu	37	chr14	51448645	51448645	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcgagccacaccaaaggcagGatcagggtggttgtcatagc	11	6	14	10	1	2	0	2	0	0	0	2	2	2	1	2	4	2	2	2	4	2	2			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr14:51448645G>C	ENST00000298355.3	-	8	2901	c.1780C>G	c.(1780-1782)Cct>Gct	p.P594A	TRIM9_ENST00000338969.5_Missense_Mutation_p.P675A	NM_015163.5	NP_055978.4	Q9C026	TRIM9_HUMAN	tripartite motif containing 9	594	B30.2/SPRY.				proteasomal ubiquitin-dependent protein catabolic process	cell junction|cytoskeleton|dendrite|synaptic vesicle	protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_epithelial(31;0.00418)|Breast(41;0.148)					CCAAAGGCAGGATCAGGGTGG	0.517													C	51448645	G	C	51448645	3	2	619	1	0	0	0	0	1	0	0	0	16650	1174	41	4	364	4	TRIM9	14	51448645	Missense_Mutation	SNP	G	TCGA-HW-7491-01A-11D-2024-08		51448645	55900895	17	50950											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	619	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08		90631838	11899554	18	50951											
GLIS2	84662	broad.mit.edu	37	chr16	4383346	4383346	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaactgtgcctctccctcAggcttcctgctgaactccaa	7	11	7	16	0	2	2	1	2	1	0	5	2	4	2	4	1	4	2	4	1	3	1			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4383346A>G	ENST00000262366.3	+	4	993		c.e4-1		GLIS2_ENST00000433375.1_Splice_Site|PAM16_ENST00000577031.1_Intron			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2						cell differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development	cytoplasm|nuclear speck	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|transcription regulatory region DNA binding|zinc ion binding			breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						CCTCTCCCTCAGGCTTCCTGC	0.612													G	4383346	A	G	4383346	5	3	619	1	0	0	0	0	0	0	1	0	6502	202	7	3	177	3	GLIS2	16	4383346	Splice_Site	SNP	A	TCGA-HW-7491-01A-11D-2024-08		4383346	85971407	19	50952											
VASN	114990	broad.mit.edu	37	chr16	4431389	4431391	+	In_Frame_Del	DEL	CTG	CTG	-																															ccccgctgcgcctgccccgcCtgctgctgctggacctcagc																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:4431389_4431391delCTG	ENST00000304735.3	+	2	666_668	c.511_513delCTG	c.(511-513)ctgdel	p.L174del	CORO7_ENST00000539968.1_Intron|CORO7-PAM16_ENST00000572467.1_Intron|CORO7_ENST00000574025.1_Intron|CORO7_ENST00000423908.2_Intron|CORO7_ENST00000537233.2_Intron|CORO7_ENST00000251166.4_Intron	NM_138440.2	NP_612449.2	Q6EMK4	VASN_HUMAN	vasorin	174						extracellular region|integral to membrane				breast(1)|lung(3)|prostate(1)|skin(1)	6						CCTGCCCCGCCTGCTGCTGCTGG	0.704													-	4431391	CTG	-	4431389	7	5	619	1	0	1	0	1	0	0	0	0	17229	680	24	0	513	0	VASN	16	4431389	In_Frame_Del	DEL	CTG	TCGA-HW-7491-01A-11D-2024-08	48043	4431389	85923364	20	50953											
SLC12A4	6560	broad.mit.edu	37	chr16	67986327	67986340	+	Splice_Site	DEL	GTCTGAAACAAGAA	GTCTGAAACAAGAA	-																															cagctggtggggcaatgtagGtctgaaacaagaagatggat																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr16:67986327_67986340delGTCTGAAACAAGAA	ENST00000422611.2	-	6	721_722	c.682_683delTTCTTGTTTCAGAC	c.(682-684)ttc>c	p.F228fs	SLC12A4_ENST00000537830.2_Splice_Site_p.F220fs|SLC12A4_ENST00000576616.1_Splice_Site_p.F226fs|SLC12A4_ENST00000338335.3_Splice_Site_p.F226fs|SLC12A4_ENST00000572010.1_5'UTR|SLC12A4_ENST00000572037.1_Splice_Site_p.F178fs|SLC12A4_ENST00000541864.2_Splice_Site_p.F195fs|SLC12A4_ENST00000316341.3_Splice_Site_p.F226fs	NM_001145962.1	NP_001139434.1	Q9UP95	S12A4_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 4	226					cell volume homeostasis|potassium ion transport|sodium ion transport	integral to plasma membrane|membrane fraction	potassium:chloride symporter activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(2)|ovary(2)|prostate(4)|skin(2)|urinary_tract(3)	29		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	GGCAATGTAGGTCTGAAACAAGAAGATGGATAAG	0.449													-	67986340	GTCTGAAACAAGAA	-	67986327	8	5	619	1	0	1	0	1	0	0	1	0	14479	1275	44	0	2652	0	SLC12A4	16	67986327	Splice_Site	DEL	GTCTGAAACAAGAA	TCGA-HW-7491-01A-11D-2024-08	63554938	67986327	22368426	21	50954											
DVL2	1856	broad.mit.edu	37	chr17	7132713	7132713	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacccatgtttagcgtgacTgtgatgatattgagagacat	12	13	10	6	1	0	5	0	4	0	1	0	6	0	5	1	0	2	1	1	0	3	5			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:7132713T>C	ENST00000005340.5	-	7	1083	c.801A>G	c.(799-801)acA>acG	p.T267T	DVL2_ENST00000574642.1_5'UTR|DVL2_ENST00000575458.1_Silent_p.T261T	NM_004422.2	NP_004413.1	O14641	DVL2_HUMAN	dishevelled segment polarity protein 2	267	PDZ.				canonical Wnt receptor signaling pathway involved in regulation of cell proliferation|intracellular signal transduction|neural tube closure|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|segment specification|transcription from RNA polymerase II promoter	cytosol|nucleus|plasma membrane	frizzled binding|identical protein binding|signal transducer activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(11)|lung(7)|skin(1)	25						TTAGCGTGACTGTGATGATAT	0.567													C	7132713	T	C	7132713	2	2	619	1	0	0	0	0	0	0	0	1	4875	1567	55	3		3	DVL2	17	7132713	Silent	SNP	T	TCGA-HW-7491-01A-11D-2024-08		7132713	74062497	22	50955											
PLCD3	113026	broad.mit.edu	37	chr17	43198453	43198453	+	Frame_Shift_Del	DEL	C	C	-																															cccgaagcgccgcaggccctCggactggtggccctcgcgga																										TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr17:43198453delC	ENST00000322765.5	-	3	483	c.370delG	c.(370-372)gagfs	p.E124fs	PLCD3_ENST00000540511.1_5'UTR	NM_133373.3	NP_588614.1	Q8N3E9	PLCD3_HUMAN	phospholipase C, delta 3	124	PH.				intracellular signal transduction|lipid catabolic process	cleavage furrow|cytoplasm|membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(2)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)|stomach(2)|urinary_tract(2)	17					Phosphatidylserine(DB00144)	CGCAGGCCCTCGGACTGGTGG	0.736													-	43198453	C	-	43198453	7	5	619	1	0	1	0	1	0	0	0	0	12109	893	31	0	2050	0	PLCD3	17	43198453	Frame_Shift_Del	DEL	C	TCGA-HW-7491-01A-11D-2024-08	36065740	43198453	37996757	23	50956											
FUT5	2527	broad.mit.edu	37	chr19	5867346	5867347	+	Frame_Shift_Ins	INS	-	-	GG																															gggggcgggaggttggcactINSggggttgtacatgatatccc																								rs111394159		TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:5867346_5867347insGG	ENST00000252675.5	-	5	952_953	c.390_391insCC	c.(388-393)cccagtfs	p.S131fs	FUT5_ENST00000588525.1_Frame_Shift_Ins_p.S131fs			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	131					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTTGGCACTGGGGTTGTACA	0.663													GG	5867347	-	GG	5867346	7	5	619	1	0	1	1	0	0	0	0	0	6159	1580	55	0	737	0	FUT5	19	5867346	Frame_Shift_Ins	INS	-	TCGA-HW-7491-01A-11D-2024-08		5867346	53261637	24	50957											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-HW-7491-01A-11D-2024-08	TCGA-HW-7491-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c29c663-c1ec-468e-9e86-74a2b70da59e	0ba3d269-712a-4990-a51b-7288d4f2adbb	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	619	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-HW-7491-01A-11D-2024-08	36924411	42791757	16337226	25	50958											
PRAMEF2	65122	broad.mit.edu	37	chr1	12921405	12921405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctgaaggacctgctgcGccacaccagtgggctgagca	8	5	13	15	2	0	2	0	2	0	0	0	3	0	3	4	2	3	3	4	2	1	0	rs143742734	byFrequency	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:12921405G>A	ENST00000240189.2	+	4	1283	c.1196G>A	c.(1195-1197)cGc>cAc	p.R399H		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	399										breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GACCTGCTGCGCCACACCAGT	0.557													A	12921405	G	A	12921405	3	1	620	1	0	0	0	0	1	0	0	0	12518	1087	38	1	1206	1	PRAMEF2	1	12921405	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		12921405	236329216	1	50959											
CELSR2	1952	broad.mit.edu	37	chr1	109805553	109805553	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacagccggcacatagAcatggctgacttcattgcca	10	8	12	11	1	1	2	1	1	0	1	1	3	1	3	2	4	2	2	2	4	1	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:109805553A>G	ENST00000271332.3	+	7	4731	c.4670A>G	c.(4669-4671)gAc>gGc	p.D1557G		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	1557	Laminin G-like 1.				dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CGGCACATAGACATGGCTGAC	0.647													G	109805553	A	G	109805553	3	3	620	1	0	0	0	0	1	0	0	0	3252	275	10	3	4696	3	CELSR2	1	109805553	Missense_Mutation	SNP	A	TCGA-HW-7495-01A-11D-2024-08	96884148	109805553	139445068	2	50960											
WDR26	80232	broad.mit.edu	37	chr1	224619390	224619390	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgccctactttaccttatcCcagtctccttccatgacatg	8	14	4	15	0	1	1	0	1	1	0	4	1	3	1	5	0	3	0	5	0	3	5			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr1:224619390C>T	ENST00000414423.2	-	2	709	c.516G>A	c.(514-516)tgG>tgA	p.W172*	WDR26_ENST00000366852.2_Nonsense_Mutation_p.W172*|WDR26_ENST00000295024.6_Nonsense_Mutation_p.W25*	NM_001115113.2|NM_025160.6	NP_001108585.2|NP_079436.4	Q9H7D7	WDR26_HUMAN	WD repeat domain 26	172	CTLH.					cytoplasm|nucleus				biliary_tract(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)	18				GBM - Glioblastoma multiforme(131;0.0104)		TTACCTTATCCCAGTCTCCTT	0.403													T	224619390	C	T	224619390	4	4	620	1	0	0	0	0	0	1	0	0	17385	624	22	2	1521	2	WDR26	1	224619390	Nonsense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	114813837	224619390	24631231	3	50961											
STAMBP	10617	broad.mit.edu	37	chr2	74074536	74074536	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggaagcagaggaattggCccggaacatggccatccagc	13	4	14	10	1	0	1	0	0	0	1	1	5	1	4	3	5	3	1	3	5	4	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:74074536C>T	ENST00000394070.2	+	5	901	c.398C>T	c.(397-399)gCc>gTc	p.A133V	STAMBP_ENST00000339566.3_Missense_Mutation_p.A133V|STAMBP_ENST00000536064.1_Missense_Mutation_p.A133V|STAMBP_ENST00000409707.1_Missense_Mutation_p.A133V|STAMBP_ENST00000394073.1_Missense_Mutation_p.A133V	NM_213622.2	NP_998787.1	O95630	STABP_HUMAN	STAM binding protein	133	Glu-rich.				JAK-STAT cascade|positive regulation of cell proliferation	early endosome|membrane|nucleus	metal ion binding|metallopeptidase activity|protein binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	18						GAGGAATTGGCCCGGAACATG	0.463													T	74074536	C	T	74074536	3	4	620	1	0	0	0	0	1	0	0	0	15346	739	26	2	412	2	STAMBP	2	74074536	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		74074536	169124837	4	50962											
CTNNA2	1496	broad.mit.edu	37	chr2	80808942	80808942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgcagggcagagcgcaCgggtgagtggacacctaaga	11	6	15	9	2	1	3	1	1	0	2	1	4	1	4	1	3	2	3	1	3	1	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr2:80808942C>T	ENST00000466387.1	+	18	2729	c.2005C>T	c.(2005-2007)Cgg>Tgg	p.R669W	AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000496558.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000540488.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000343114.3_Missense_Mutation_p.R348W|CTNNA2_ENST00000402739.4_Missense_Mutation_p.R669W|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000596887.1_RNA|CTNNA2_ENST00000541047.1_Missense_Mutation_p.R669W|CTNNA2_ENST00000361291.4_Missense_Mutation_p.R703W			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	669					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton	p.R669W(1)		breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAGCGCACGGGTGAGTGG	0.493													T	80808942	C	T	80808942	3	4	620	1	0	0	0	0	1	0	0	0	4046	527	19	1	1847	1	CTNNA2	2	80808942	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	6734406	80808942	162390431	5	50963											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	620	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	128304170	209113112	34086261	6	50964											
ARL13B	200894	broad.mit.edu	37	chr3	93714764	93714764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgataatgctggtaaaaccGcaacagcaaagggaatccaa	17	7	9	8	1	0	1	0	1	0	0	1	2	1	2	2	2	4	4	2	2	7	3	rs139780924	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:93714764G>A	ENST00000394222.3	+	2	381	c.106G>A	c.(106-108)Gca>Aca	p.A36T	ARL13B_ENST00000486562.1_3'UTR|ARL13B_ENST00000303097.7_Intron|ARL13B_ENST00000539730.1_5'UTR|ARL13B_ENST00000535334.1_Intron|ARL13B_ENST00000471138.1_Missense_Mutation_p.A36T	NM_001174150.1	NP_001167621.1	Q3SXY8	AR13B_HUMAN	ADP-ribosylation factor-like 13B	36							GTP binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|urinary_tract(2)	10						TGGTAAAACCGCAACAGCAAA	0.299													A	93714764	G	A	93714764	3	1	620	1	0	0	0	0	1	0	0	0	932	1087	38	1	112	1	ARL13B	3	93714764	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		93714764	104307666	7	50965											
BOC	91653	broad.mit.edu	37	chr3	112998818	112998818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatatcaccttcacggatgCggtcaatgagaccaccatca	12	10	7	12	2	4	1	4	1	0	1	4	3	4	2	3	2	1	0	3	2	3	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr3:112998818C>T	ENST00000495514.1	+	13	2872	c.2168C>T	c.(2167-2169)gCg>gTg	p.A723V	BOC_ENST00000355385.3_Missense_Mutation_p.A723V|BOC_ENST00000273395.4_Missense_Mutation_p.A724V			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	723	Fibronectin type-III 3.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TTCACGGATGCGGTCAATGAG	0.632													T	112998818	C	T	112998818	3	4	620	1	0	0	0	0	1	0	0	0	1487	768	27	1	2210	1	BOC	3	112998818	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	19284054	112998818	85023612	8	50966											
HTT	3064	broad.mit.edu	37	chr4	3230369	3230369	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactccgtgtggctggggAacagcatcacacccctgagg	9	7	12	13	1	1	1	1	1	0	0	2	2	2	2	3	4	3	2	3	4	2	1			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr4:3230369A>G	ENST00000355072.5	+	58	8021	c.7876A>G	c.(7876-7878)Aac>Gac	p.N2626D		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2626					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GTGGCTGGGGAACAGCATCAC	0.642													G	3230369	A	G	3230369	3	3	620	1	0	0	0	0	1	0	0	0	7515	246	9	3	8106	3	HTT	4	3230369	Missense_Mutation	SNP	A	TCGA-HW-7495-01A-11D-2024-08		3230369	187923907	9	50967											
TRIO	7204	broad.mit.edu	37	chr5	14406753	14406753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttccatcgcctcacggaCgtctcagaacacgctggaca	10	8	9	14	4	2	1	2	0	1	1	5	4	3	3	2	2	1	1	2	2	1	1	rs55687522		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:14406753C>T	ENST00000344204.4	+	33	4955	c.4931C>T	c.(4930-4932)aCg>aTg	p.T1644M	TRIO_ENST00000537187.1_Missense_Mutation_p.T1644M	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	1644			T -> M (in dbSNP:rs55687522).		apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	p.T1644M(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					GCCTCACGGACGTCTCAGAAC	0.567													T	14406753	C	T	14406753	3	4	620	1	0	0	0	0	1	0	0	0	16653	536	19	1	5061	1	TRIO	5	14406753	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08		14406753	166508507	10	50968											
PCDHB7	56129	broad.mit.edu	37	chr5	140552718	140552718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtgtggccccagagagcCctgtgtgctgcctttccagt	5	11	12	13	0	0	1	0	0	0	1	1	2	1	1	5	1	3	1	5	1	0	1	rs139238267		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr5:140552718C>T	ENST00000231137.3	+	1	476	c.302C>T	c.(301-303)cCc>cTc	p.P101L		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		101	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.P101H(1)		NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCAGAGAGCCCTGTGTGCTG	0.443													T	140552718	C	T	140552718	3	4	620	1	0	0	0	0	1	0	0	0	11623	623	22	2	304	2	PCDHB7	5	140552718	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	126145965	140552718	40362542	11	50969											
RREB1	6239	broad.mit.edu	37	chr6	7240706	7240706	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgtcaaaaatgcgatgccTtcttttctaccaaatctaac	12	14	4	11	1	4	0	1	0	3	0	4	1	4	0	2	0	4	0	2	0	5	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr6:7240706T>A	ENST00000379938.2	+	11	4381	c.3844T>A	c.(3844-3846)Ttc>Atc	p.F1282I	RREB1_ENST00000349384.6_Intron|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000334984.6_Missense_Mutation_p.F1282I	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				ATGCGATGCCTTCTTTTCTAC	0.423													A	7240706	T	A	7240706	3	1	620	1	0	0	0	0	1	0	0	0	13770	1609	56	5	3874	5	RREB1	6	7240706	Missense_Mutation	SNP	T	TCGA-HW-7495-01A-11D-2024-08		7240706	163874361	12	50970											
DNAH11	8701	broad.mit.edu	37	chr7	21639635	21639635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctagacagagaggctggGgatggcttctatgatcttgt	8	12	13	8	0	2	3	0	1	2	2	3	5	3	4	1	4	0	2	1	4	2	4			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:21639635G>A	ENST00000328843.6	+	15	2929	c.2898G>A	c.(2896-2898)ggG>ggA	p.G966G	DNAH11_ENST00000409508.3_Silent_p.G966G			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	966	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GAGAGGCTGGGGATGGCTTCT	0.393									Kartagener syndrome				A	21639635	G	A	21639635	2	1	620	1	0	0	0	0	0	0	0	1	4638	1219	43	2		2	DNAH11	7	21639635	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		21639635	137499028	13	50971											
AEBP1	165	broad.mit.edu	37	chr7	44153669	44153669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggtgacagagtttgggaccGaggtggagcccgagtttggg	7	9	19	6	2	0	2	0	1	0	1	0	6	0	4	2	5	1	2	2	5	0	2	rs146155697		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:44153669G>A	ENST00000223357.3	+	21	3591	c.3286G>A	c.(3286-3288)Gag>Aag	p.E1096K	AEBP1_ENST00000450684.2_Missense_Mutation_p.E671K	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	1096	Glu-rich.|Interaction with MAPK1 and MAPK3 (By similarity).|Required for transcriptional repression (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						GTTTGGGACCGAGGTGGAGCC	0.597													A	44153669	G	A	44153669	3	1	620	1	0	0	0	0	1	0	0	0	349	1059	37	1	3368	1	AEBP1	7	44153669	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	22514034	44153669	114984994	14	50972											
CADPS2	93664	broad.mit.edu	37	chr7	122130306	122130306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtatctccttctttaacagCattaaagaacatacaaccac	16	11	3	11	0	2	1	0	0	2	1	3	1	2	1	2	0	5	2	2	0	7	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr7:122130306C>A	ENST00000334010.7	-	11	2102	c.1681G>T	c.(1681-1683)Gct>Tct	p.A561S	CADPS2_ENST00000412584.2_Missense_Mutation_p.A561S|CADPS2_ENST00000313070.7_Missense_Mutation_p.A561S|CADPS2_ENST00000449022.2_Missense_Mutation_p.A561S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	561	PH.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						TCTTTAACAGCATTAAAGAAC	0.378													A	122130306	C	A	122130306	3	1	620	1	0	0	0	0	1	0	0	0	2597	710	25	4	2333	4	CADPS2	7	122130306	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	77976637	122130306	37008357	15	50973											
DOCK8	81704	broad.mit.edu	37	chr9	289509	289509	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcattttctacctcattaGggttgaactggaccctcatg	8	16	7	10	0	4	1	3	1	1	0	4	2	4	2	2	2	2	1	2	2	3	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr9:289509G>A	ENST00000432829.2	+	4	444		c.e4-1		DOCK8_ENST00000469391.1_Splice_Site|DOCK8_ENST00000453981.1_Splice_Site	NM_203447.3	NP_982272.2	Q8NF50	DOCK8_HUMAN	dedicator of cytokinesis 8						blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(5)|endometrium(2)|kidney(6)|large_intestine(13)|lung(22)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	65		all_cancers(5;2.13e-17)|all_epithelial(5;2.15e-12)|all_lung(10;6.69e-11)|Lung NSC(10;1.08e-10)|Acute lymphoblastic leukemia(5;0.000242)|all_hematologic(5;0.00317)|Breast(48;0.0151)|Prostate(43;0.128)		all cancers(5;9.3e-07)|GBM - Glioblastoma multiforme(5;2.41e-06)|Epithelial(6;0.00557)|Lung(218;0.00942)		TACCTCATTAGGGTTGAACTG	0.388													A	289509	G	A	289509	5	1	620	1	0	0	0	0	0	0	1	0	4732	1014	35	2	346	2	DOCK8	9	289509	Splice_Site	SNP	G	TCGA-HW-7495-01A-11D-2024-08		289509	140923922	16	50974											
MUC2	4583	broad.mit.edu	37	chr11	1103827	1103827	+	Frame_Shift_Del	DEL	C	C	-																															aggcacccctcgcaatgagaCcagggtgccctgctccaccg																										TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:1103827delC	ENST00000441003.2	+	48	8153	c.8126delC	c.(8125-8127)accfs	p.T2709fs		NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	5071						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CGCAATGAGACCAGGGTGCCC	0.672													-	1103827	C	-	1103827	7	5	620	1	0	1	0	1	0	0	0	0	10051	507	18	0	8308	0	MUC2	11	1103827	Frame_Shift_Del	DEL	C	TCGA-HW-7495-01A-11D-2024-08		1103827	133902689	17	50975											
TRIM22	10346	broad.mit.edu	37	chr11	5730667	5730667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggactcctcctcttctgatcCcaaggttttgactctcttta	6	16	6	13	0	3	2	0	2	3	0	7	3	6	3	3	2	0	1	3	2	2	5			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:5730667C>T	ENST00000379965.3	+	8	1563	c.1286C>T	c.(1285-1287)cCc>cTc	p.P429L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	429	B30.2/SPRY.				immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTTCTGATCCCAAGGTTTTG	0.413													T	5730667	C	T	5730667	3	4	620	1	0	0	0	0	1	0	0	0	16597	623	22	2	1312	2	TRIM22	11	5730667	Missense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	4626840	5730667	129275849	18	50976											
PRDM10	56980	broad.mit.edu	37	chr11	129817095	129817095	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcccagtcatccagatcCgtgtcctcaccgtcttcttc	5	12	7	17	2	4	1	2	0	2	1	9	1	8	1	5	1	0	1	5	1	0	2			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr11:129817095C>T	ENST00000358825.5	-	5	696	c.465G>A	c.(463-465)acG>acA	p.T155T	PRDM10_ENST00000360871.3_Silent_p.T155T|PRDM10_ENST00000526082.1_Silent_p.T69T|PRDM10_ENST00000304538.6_Silent_p.T69T|PRDM10_ENST00000528746.1_Silent_p.T129T|PRDM10_ENST00000423662.2_Silent_p.T69T	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T155T(1)		breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CATCCAGATCCGTGTCCTCAC	0.597													T	129817095	C	T	129817095	2	4	620	1	0	0	0	0	0	0	0	1	12537	639	23	1		1	PRDM10	11	129817095	Silent	SNP	C	TCGA-HW-7495-01A-11D-2024-08	124086428	129817095	5189421	19	50977											
KCNH5	27133	broad.mit.edu	37	chr14	63269245	63269245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgttcattaaaaaccttccGgtttagatgaacacagatat	15	13	6	7	1	1	3	1	1	0	2	2	3	2	3	2	1	2	2	2	1	6	6			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr14:63269245G>A	ENST00000322893.7	-	9	1892	c.1624C>T	c.(1624-1626)Cgg>Tgg	p.R542W	KCNH5_ENST00000420622.2_Missense_Mutation_p.R542W|KCNH5_ENST00000394968.1_Missense_Mutation_p.R484W	NM_139318.3	NP_647479.2	Q8NCM2	KCNH5_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 5	542					regulation of transcription, DNA-dependent	integral to membrane	calmodulin binding|two-component sensor activity|voltage-gated potassium channel activity			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(33)|ovary(5)|prostate(2)|skin(17)|upper_aerodigestive_tract(4)|urinary_tract(2)	99				OV - Ovarian serous cystadenocarcinoma(108;0.00958)|BRCA - Breast invasive adenocarcinoma(234;0.168)		AAAACCTTCCGGTTTAGATGA	0.493													A	63269245	G	A	63269245	3	1	620	1	0	0	0	0	1	0	0	0	8093	1115	39	1	1388	1	KCNH5	14	63269245	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08		63269245	44080295	20	50978											
CRLF3	51379	broad.mit.edu	37	chr17	29112983	29112983	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgctgcagagagtcataTccatcctgtttttctgcaca	8	13	7	13	1	2	1	1	0	1	1	5	2	5	1	3	0	2	4	3	0	1	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr17:29112983T>C	ENST00000324238.6	-	7	1150	c.1026A>G	c.(1024-1026)ggA>ggG	p.G342G	CRLF3_ENST00000544695.1_Silent_p.G226G|CRLF3_ENST00000577725.1_Intron	NM_015986.3	NP_057070.3	Q8IUI8	CRLF3_HUMAN	cytokine receptor-like factor 3	342					negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of cell cycle arrest|positive regulation of JAK-STAT cascade|positive regulation of transcription from RNA polymerase II promoter	cytoplasm				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	17		all_hematologic(16;0.014)|Acute lymphoblastic leukemia(14;0.0236)|Myeloproliferative disorder(56;0.0255)				GAGAGTCATATCCATCCTGTT	0.363													C	29112983	T	C	29112983	2	2	620	1	0	0	0	0	0	0	0	1	3919	1422	50	3		3	CRLF3	17	29112983	Silent	SNP	T	TCGA-HW-7495-01A-11D-2024-08		29112983	52082227	21	50979											
NWD1	284434	broad.mit.edu	37	chr19	16874671	16874671	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtggttctcacatacGgttgcaaacctgcggaagct	8	11	10	12	2	2	0	1	0	2	0	3	1	2	1	2	3	5	4	2	3	3	3	rs117965437	by1000genomes	TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:16874671G>A	ENST00000524140.2	+	9	2584	c.2166G>A	c.(2164-2166)acG>acA	p.T722T	NWD1_ENST00000523826.1_Silent_p.T516T|NWD1_ENST00000549814.1_Silent_p.T722T|NWD1_ENST00000339803.6_Silent_p.T587T|NWD1_ENST00000379808.3_Silent_p.T722T|NWD1_ENST00000552788.1_Silent_p.T722T	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	722							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						TCTCACATACGGTTGCAAACC	0.592													A	16874671	G	A	16874671	2	1	620	1	0	0	0	0	0	0	0	1	10857	1103	39	1		1	NWD1	19	16874671	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08		16874671	42254312	22	50980											
BAX	581	broad.mit.edu	37	chr19	49459501	49459501	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccccgagaggtctttttcCgagtggcagctgacatgttt	6	12	11	12	2	1	2	0	1	1	1	2	4	2	2	4	2	1	3	4	2	0	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:49459501C>T	ENST00000293288.8	+	4	280	c.280C>T	c.(280-282)Cga>Tga	p.R94*	BAX_ENST00000345358.7_Nonsense_Mutation_p.R94*|BAX_ENST00000391871.3_3'UTR|BAX_ENST00000539787.1_Nonsense_Mutation_p.R94*|BAX_ENST00000415969.2_Nonsense_Mutation_p.R94*|BAX_ENST00000354470.3_Nonsense_Mutation_p.R45*	NM_004324.3	NP_004315.1	Q07812	BAX_HUMAN	BCL2-associated X protein	94					activation of caspase activity by cytochrome c|activation of pro-apoptotic gene products|B cell apoptosis|cleavage of lamin|DNA fragmentation involved in apoptotic nuclear change|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|induction of retinal programmed cell death|mitochondrial fragmentation involved in apoptosis|mitochondrial fusion|negative regulation of protein binding|negative regulation of survival gene product expression|nuclear fragmentation involved in apoptotic nuclear change|positive regulation of neuron apoptosis|protein homooligomerization|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria|release of matrix enzymes from mitochondria|response to toxin|transformed cell apoptosis	cytosol|endoplasmic reticulum membrane|mitochondrial outer membrane|mitochondrial permeability transition pore complex|nucleus	BH3 domain binding|channel activity|lipid binding|protein heterodimerization activity|protein homodimerization activity	p.R94*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(7)|skin(2)|urinary_tract(4)	17		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000159)|all cancers(93;0.00047)|GBM - Glioblastoma multiforme(486;0.018)|Epithelial(262;0.0279)		GGTCTTTTTCCGAGTGGCAGC	0.587													T	49459501	C	T	49459501	4	4	620	1	0	0	0	0	0	1	0	0	1333	644	23	1	294	1	BAX	19	49459501	Nonsense_Mutation	SNP	C	TCGA-HW-7495-01A-11D-2024-08	32584830	49459501	9669482	23	50981											
ZNF579	163033	broad.mit.edu	37	chr19	56090218	56090218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcgcttggggcgtggcgggGgccccccttccccttcctgt	0	10	15	16	3	0	0	0	0	0	0	3	0	2	0	6	5	0	1	6	5	0	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chr19:56090218G>A	ENST00000325421.4	-	2	816	c.788C>T	c.(787-789)cCc>cTc	p.P263L		NM_152600.2	NP_689813.2	Q8NAF0	ZN579_HUMAN	zinc finger protein 579	263					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.106)		GCGTGGCGGGGGCCCCCCTTC	0.716													A	56090218	G	A	56090218	3	1	620	1	0	0	0	0	1	0	0	0	18112	1232	43	2	904	2	ZNF579	19	56090218	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	6630717	56090218	3038765	24	50982											
SH3KBP1	30011	broad.mit.edu	37	chrX	19764444	19764444	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccttttccatacctctcttaTtggttcttaaaatcgtttca	8	19	3	11	1	3	0	1	0	2	0	6	0	4	0	3	1	1	2	3	1	4	8			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:19764444T>A	ENST00000397821.3	-	3	568	c.278A>T	c.(277-279)aAt>aTt	p.N93I	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.N93I|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.N56I	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	93					apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						ACCTCTCTTATTGGTTCTTAA	0.423													A	19764444	T	A	19764444	3	1	620	1	0	0	0	0	1	0	0	0	14349	1493	52	5	1799	5	SH3KBP1	23	19764444	Missense_Mutation	SNP	T	TCGA-HW-7495-01A-11D-2024-08		19764444	135506116	25	50983											
WDR44	54521	broad.mit.edu	37	chrX	117527112	117527112	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagcctgttccagcacGcccacctcctccaactaatt	12	8	5	16	1	0	1	0	0	0	1	3	1	3	1	6	0	3	2	6	0	4	3			TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:117527112G>A	ENST00000254029.3	+	4	1099	c.704G>A	c.(703-705)cGc>cAc	p.R235H	WDR44_ENST00000371822.5_Missense_Mutation_p.R210H|WDR44_ENST00000493448.1_3'UTR|WDR44_ENST00000371825.3_Missense_Mutation_p.R235H	NM_019045.4	NP_061918.3	Q5JSH3	WDR44_HUMAN	WD repeat domain 44	235	Pro-rich.					cytosol|endosome membrane|Golgi apparatus|perinuclear region of cytoplasm				breast(4)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	33						GTTCCAGCACGCCCACCTCCT	0.522													A	117527112	G	A	117527112	3	1	620	1	0	0	0	0	1	0	0	0	17398	1087	38	1	718	1	WDR44	23	117527112	Missense_Mutation	SNP	G	TCGA-HW-7495-01A-11D-2024-08	97762668	117527112	37743448	26	50984											
IGSF1	3547	broad.mit.edu	37	chrX	130412511	130412511	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaatggcagtggtagctcccGgtgtggctctgggtcagggc	5	9	18	9	1	2	0	1	0	1	0	3	1	3	0	1	6	1	4	1	6	2	1	rs150559043		TCGA-HW-7495-01A-11D-2024-08	TCGA-HW-7495-10A-01D-2024-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	40a47122-c2cd-4688-99b9-64b2350ef155	af2a33f3-7c62-409d-b291-570872c2612c	g.chrX:130412511G>A	ENST00000370904.1	-	18	2848	c.1938C>T	c.(1936-1938)acC>acT	p.T646T	IGSF1_ENST00000370903.3_Silent_p.T660T|IGSF1_ENST00000361420.3_Silent_p.T655T|IGSF1_ENST00000370910.1_Silent_p.T646T			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	655	Ig-like C2-type 6.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						GGTAGCTCCCGGTGTGGCTCT	0.627													A	130412511	G	A	130412511	2	1	620	1	0	0	0	0	0	0	0	1	7654	1103	39	1		1	IGSF1	23	130412511	Silent	SNP	G	TCGA-HW-7495-01A-11D-2024-08	12885399	130412511	24858049	27	50985											
HIVEP3	59269	broad.mit.edu	37	chr1	41978828	41978828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agacccacaagggagagcgcCcatgccccttcctgggtcca	9	5	11	16	1	0	2	0	0	0	2	2	3	2	2	6	2	2	0	6	2	1	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:41978828C>T	ENST00000372584.1	-	7	7078	c.6064G>A	c.(6064-6066)Ggc>Agc	p.G2022S	HIVEP3_ENST00000429157.2_Missense_Mutation_p.G2022S|HIVEP3_ENST00000460604.1_5'UTR|HIVEP3_ENST00000247584.5_Missense_Mutation_p.G2022S|HIVEP3_ENST00000372583.1_Missense_Mutation_p.G2022S	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	2022					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)				GGGAGAGCGCCCATGCCCCTT	0.632													T	41978828	C	T	41978828	3	4	621	1	0	0	0	0	1	0	0	0	7243	623	22	2	1164	2	HIVEP3	1	41978828	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		41978828	207271793	1	50986											
CD1E	913	broad.mit.edu	37	chr1	158325319	158325319	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgccctcgatttctagcGgggctcatggaagcagggga	8	8	14	11	2	2	0	1	0	1	0	3	3	2	2	2	5	3	2	2	5	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:158325319G>A	ENST00000444681.2	+	2	581	c.288G>A	c.(286-288)gcG>gcA	p.A96A	CD1E_ENST00000368155.3_Intron|CD1E_ENST00000368156.1_Intron|CD1E_ENST00000452291.2_Intron|CD1E_ENST00000368165.3_Intron|CD1E_ENST00000368157.1_Intron|CD1E_ENST00000368154.1_Intron|CD1E_ENST00000434258.1_Silent_p.A193A|CD1E_ENST00000368167.3_Silent_p.A195A|CD1E_ENST00000368164.3_Intron|CD1E_ENST00000368166.3_Intron|CD1E_ENST00000368160.3_Silent_p.A195A|CD1E_ENST00000368161.3_Silent_p.A195A|CD1E_ENST00000368163.3_Silent_p.A195A	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	195					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					GATTTCTAGCGGGGCTCATGG	0.478													A	158325319	G	A	158325319	2	1	621	1	0	0	0	0	0	0	0	1	3008	1103	39	1		1	CD1E	1	158325319	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	116346491	158325319	90925302	2	50987											
OR2T1	26696	broad.mit.edu	37	chr1	248570030	248570030	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcagacacagccctctaCgagacagtgatgtatgtgtg	10	10	12	9	1	1	3	0	1	1	2	1	4	1	3	1	0	3	2	1	0	2	2	rs148427102		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr1:248570030C>T	ENST00000366474.1	+	1	735	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_030904.1	NP_112166.1	O43869	OR2T1_HUMAN	olfactory receptor, family 2, subfamily T, member 1	245					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	39	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAGCCCTCTACGAGACAGTGA	0.493													T	248570030	C	T	248570030	2	4	621	1	0	0	0	0	0	0	0	1	11092	547	19	1		1	OR2T1	1	248570030	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08	90244711	248570030	680591	3	50988											
APOB	338	broad.mit.edu	37	chr2	21226157	21226157	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttcctcatcagattccCggaccctcaactcagttttg	8	13	7	13	1	4	1	4	0	0	1	6	3	6	2	3	1	1	2	3	1	1	4	rs149273387		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:21226157C>T	ENST00000233242.1	-	29	12264	c.12137G>A	c.(12136-12138)cGg>cAg	p.R4046Q		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4046					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	ATCAGATTCCCGGACCCTCAA	0.408													T	21226157	C	T	21226157	3	4	621	1	0	0	0	0	1	0	0	0	788	652	23	1	1558	1	APOB	2	21226157	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		21226157	221973216	4	50989											
SCN2A	6326	broad.mit.edu	37	chr2	166211024	166211024	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactagtggcataggcagcaGtgtagaaaaatatgtcgtgg	13	10	13	5	1	0	1	0	0	0	1	1	1	0	1	0	3	2	4	0	3	7	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:166211024G>C	ENST00000375437.2	+	17	3532	c.3242G>C	c.(3241-3243)aGt>aCt	p.S1081T	SCN2A_ENST00000283256.6_Missense_Mutation_p.S1081T|SCN2A_ENST00000357398.3_Missense_Mutation_p.S1081T|SCN2A_ENST00000375427.2_Missense_Mutation_p.S1081T	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1081					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	ATAGGCAGCAGTGTAGAAAAA	0.388													C	166211024	G	C	166211024	3	2	621	1	0	0	0	0	1	0	0	0	14009	1029	36	4	3400	4	SCN2A	2	166211024	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	144984867	166211024	76988349	5	50990											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	621	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	42902088	209113112	34086261	6	50991											
ANKRD28	23243	broad.mit.edu	37	chr3	15719776	15719776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggtgttttccctgtagagtCcacagaattgacttgagcat	10	13	10	8	0	0	4	0	2	0	2	2	4	2	4	2	1	1	3	2	1	2	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:15719776C>T	ENST00000399451.2	-	24	2924	c.2557G>A	c.(2557-2559)Gac>Aac	p.D853N	ANKRD28_ENST00000383777.1_Missense_Mutation_p.D886N|ANKRD28_ENST00000497037.1_5'UTR	NM_001195098.1|NM_001195099.1|NM_015199.3	NP_001182027.1|NP_001182028.1|NP_056014.2	O15084	ANR28_HUMAN	ankyrin repeat domain 28	853						nucleoplasm	protein binding			breast(2)|endometrium(1)|large_intestine(2)|prostate(1)	6						CCTGTAGAGTCCACAGAATTG	0.398													T	15719776	C	T	15719776	3	4	621	1	0	0	0	0	1	0	0	0	656	855	30	2	624	2	ANKRD28	3	15719776	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		15719776	182302654	7	50992											
SATB1	6304	broad.mit.edu	37	chr3	18435971	18435971	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gacctgagttctgttaaaagCcacacgtgcaaataccgcct	12	9	8	12	2	1	1	0	1	1	0	1	2	1	1	4	0	3	3	4	0	4	3			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:18435971C>A	ENST00000338745.6	-	7	2923	c.1189G>T	c.(1189-1191)Gct>Tct	p.A397S	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Missense_Mutation_p.A397S|SATB1_ENST00000417717.2_Missense_Mutation_p.A397S	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	397					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						CTGTTAAAAGCCACACGTGCA	0.433													A	18435971	C	A	18435971	3	1	621	1	0	0	0	0	1	0	0	0	13945	739	26	4	1122	4	SATB1	3	18435971	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	2716195	18435971	179586459	8	50993											
SLC4A7	9497	broad.mit.edu	37	chr3	27439832	27439832	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccaagaatacaccacgaaGttttttacattcctggaaaa	15	10	5	11	1	0	1	0	0	0	1	1	3	1	2	4	1	2	1	4	1	7	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:27439832G>C	ENST00000295736.5	-	17	2483	c.2413C>G	c.(2413-2415)Ctt>Gtt	p.L805V	SLC4A7_ENST00000445684.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000428386.1_Missense_Mutation_p.L681V|SLC4A7_ENST00000388777.4_Missense_Mutation_p.L355V|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000446700.1_Missense_Mutation_p.L797V|SLC4A7_ENST00000440156.1_Missense_Mutation_p.L801V|SLC4A7_ENST00000455077.1_Missense_Mutation_p.L686V|SLC4A7_ENST00000454389.1_Missense_Mutation_p.L814V|SLC4A7_ENST00000435667.2_Missense_Mutation_p.L690V|SLC4A7_ENST00000437179.1_Missense_Mutation_p.L686V	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	805						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ACACCACGAAGTTTTTTACAT	0.363													C	27439832	G	C	27439832	3	2	621	1	0	0	0	0	1	0	0	0	14752	1029	36	4	1267	4	SLC4A7	3	27439832	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	9003861	27439832	170582598	9	50994											
MYH15	22989	broad.mit.edu	37	chr3	108195254	108195254	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaccttacctgttctataGtttgacctctggtaacatat	10	16	5	10	0	3	1	1	1	2	0	3	1	3	1	3	1	2	3	3	1	5	7			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr3:108195254G>A	ENST00000273353.3	-	13	1339	c.1283C>T	c.(1282-1284)aCt>aTt	p.T428I		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	428	Myosin head-like.					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CTGTTCTATAGTTTGACCTCT	0.338													A	108195254	G	A	108195254	3	1	621	1	0	0	0	0	1	0	0	0	10110	1029	36	2	4677	2	MYH15	3	108195254	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	80755422	108195254	89827176	10	50995											
HCN1	348980	broad.mit.edu	37	chr5	45262407	45262407	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcttgtgcacttcatttttCggcgtggagctgccaggtgt	4	15	12	10	2	2	0	1	0	1	0	3	1	2	1	1	3	3	2	1	3	0	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:45262407C>T	ENST00000303230.4	-	8	2346	c.2289G>A	c.(2287-2289)ccG>ccA	p.P763P		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	763						integral to membrane	cAMP binding|sodium channel activity|voltage-gated potassium channel activity			NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						CTTCATTTTTCGGCGTGGAGC	0.652													T	45262407	C	T	45262407	2	4	621	1	0	0	0	0	0	0	0	1	7051	871	31	1		1	HCN1	5	45262407	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		45262407	135652853	11	50996											
ERAP2	64167	broad.mit.edu	37	chr5	96215430	96215430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttaattcacacagaaaacCaatgtttaacattcacagag	17	10	6	8	0	2	2	2	0	0	2	2	2	2	2	1	1	2	2	1	1	5	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr5:96215430C>T	ENST00000437043.3	+	2	752	c.41C>T	c.(40-42)cCa>cTa	p.P14L	ERAP2_ENST00000379904.4_Missense_Mutation_p.P14L|CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000510309.1_Missense_Mutation_p.P14L	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	14					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		CACAGAAAACCAATGTTTAAC	0.373													T	96215430	C	T	96215430	3	4	621	1	0	0	0	0	1	0	0	0	5245	594	21	2	43	2	ERAP2	5	96215430	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	50953023	96215430	84699830	12	50997											
LIMK1	3984	broad.mit.edu	37	chr7	73511062	73511062	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagtcctgccatgggtgctCtgagcaaatcaccaagggac	10	7	12	12	1	2	1	1	1	1	0	3	3	3	2	3	2	3	2	3	2	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr7:73511062C>G	ENST00000418310.1	+	3	455	c.353C>G	c.(352-354)tCt>tGt	p.S118C	LIMK1_ENST00000336180.2_Missense_Mutation_p.S88C|LIMK1_ENST00000538333.3_Missense_Mutation_p.S54C|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	88	LIM zinc-binding 2.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CATGGGTGCTCTGAGCAAATC	0.597													G	73511062	C	G	73511062	3	3	621	1	0	0	0	0	1	0	0	0	8861	913	32	4	273	4	LIMK1	7	73511062	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		73511062	85627601	13	50998											
LRRCC1	85444	broad.mit.edu	37	chr8	86021973	86021973	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aataagtagaattgaaggacTaaacacactgacaaaactgt	20	8	7	6	0	0	3	0	2	0	1	0	4	0	4	0	1	2	1	0	1	9	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr8:86021973T>G	ENST00000414626.2	+	1	1077	c.188T>G	c.(187-189)cTa>cGa	p.L63R	LRRCC1_ENST00000360375.3_Missense_Mutation_p.L83R			Q9C099	LRCC1_HUMAN	leucine rich repeat and coiled-coil centrosomal protein 1	83					cell division|mitosis	centriole|nucleus				breast(3)|central_nervous_system(1)|endometrium(4)|kidney(9)|large_intestine(7)|lung(16)|skin(1)|upper_aerodigestive_tract(2)	43						ATTGAAGGACTAAACACACTG	0.323													G	86021973	T	G	86021973	3	3	621	1	0	0	0	0	1	0	0	0	9096	1522	53	5	254	5	LRRCC1	8	86021973	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08		86021973	60342049	14	50999											
RASEF	158158	broad.mit.edu	37	chr9	85607825	85607825	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcatcctcactcttaccatgGccagtttctctccaaagtgc	8	12	6	15	0	3	0	1	0	2	0	6	0	5	0	4	1	2	2	4	1	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:85607825G>C	ENST00000376447.3	-	15	2296	c.2036C>G	c.(2035-2037)gCc>gGc	p.A679G		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	679					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TCTTACCATGGCCAGTTTCTC	0.473													C	85607825	G	C	85607825	3	2	621	1	0	0	0	0	1	0	0	0	13156	1203	42	4	198	4	RASEF	9	85607825	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		85607825	55605606	15	51000											
ZNF189	7743	broad.mit.edu	37	chr9	104170609	104170609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatgtgggaaaagttttagtCgcagttcatttgttattgaa	12	16	10	3	1	1	1	1	1	0	0	2	2	1	2	0	1	0	4	0	1	6	6			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:104170609C>T	ENST00000374861.3	+	3	801	c.517C>T	c.(517-519)Cgc>Tgc	p.R173C	ZNF189_ENST00000259395.4_Missense_Mutation_p.R145C|ZNF189_ENST00000339664.2_Missense_Mutation_p.R187C	NM_001278231.1|NM_001278232.1|NM_003452.2	NP_001265160.1|NP_001265161.1|NP_003443.2	O75820	ZN189_HUMAN	zinc finger protein 189	187					negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	26		Acute lymphoblastic leukemia(62;0.0559)				AAGTTTTAGTCGCAGTTCATT	0.413													T	104170609	C	T	104170609	3	4	621	1	0	0	0	0	1	0	0	0	17855	884	31	1	569	1	ZNF189	9	104170609	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	18562784	104170609	37042822	16	51001											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713009	138713009	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcatggagcctgtaactgtcGaagagacacttcccatgtgg	10	10	11	10	1	1	1	1	0	0	1	3	4	2	2	2	2	2	1	2	2	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr9:138713009G>A	ENST00000389532.4	-	11	3562	c.3498C>T	c.(3496-3498)ttC>ttT	p.F1166F	CAMSAP1_ENST00000312405.6_Silent_p.F888F|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.F1177F	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1166						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		TGTAACTGTCGAAGAGACACT	0.567													A	138713009	G	A	138713009	2	1	621	1	0	0	0	0	0	0	0	1	2637	1049	37	1		1	CAMSAP1	9	138713009	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	34542400	138713009	2500422	17	51002											
MPP7	143098	broad.mit.edu	37	chr10	28345529	28345529	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcacatagggcttaaattcTagtgtccttaaatgcttcac	12	14	6	9	0	3	0	2	0	1	0	4	0	4	0	1	1	1	2	1	1	6	6			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:28345529T>C	ENST00000337532.5	-	17	1707	c.1431A>G	c.(1429-1431)ctA>ctG	p.L477L	MPP7_ENST00000375719.3_Silent_p.L477L|MPP7_ENST00000445954.2_3'UTR|MPP7_ENST00000540098.1_Silent_p.L477L|MPP7_ENST00000375732.1_Silent_p.L477L	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	477	Guanylate kinase-like.				establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						GCTTAAATTCTAGTGTCCTTA	0.333													C	28345529	T	C	28345529	2	2	621	1	0	0	0	0	0	0	0	1	9815	1509	53	3		3	MPP7	10	28345529	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08		28345529	107189218	18	51003											
DMBT1	1755	broad.mit.edu	37	chr10	124348622	124348622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggctgtggctgggccaCgtcagccccaggaaatgccc	6	6	15	14	1	1	0	1	0	0	0	1	1	1	1	4	4	2	3	4	4	1	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr10:124348622C>T	ENST00000368909.3	+	17	2052	c.1946C>T	c.(1945-1947)aCg>aTg	p.T649M	DMBT1_ENST00000344338.3_Missense_Mutation_p.T639M|DMBT1_ENST00000368955.3_Missense_Mutation_p.T639M|DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000338354.3_Missense_Mutation_p.T649M|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000368956.2_Intron	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	649	SRCR 5.		T -> M.		epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GGCTGGGCCACGTCAGCCCCA	0.612													T	124348622	C	T	124348622	3	4	621	1	0	0	0	0	1	0	0	0	4616	536	19	1	2012	1	DMBT1	10	124348622	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	96003093	124348622	11186125	19	51004											
OR52I2	143502	broad.mit.edu	37	chr11	4608789	4608789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattgctgcctcctatatCttaattctcaaggcagtatt	9	17	5	10	0	3	0	2	0	2	0	5	0	4	0	2	1	2	3	2	1	5	8			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:4608789C>G	ENST00000312614.4	+	1	769	c.747C>G	c.(745-747)atC>atG	p.I249M		NM_001005170.2	NP_001005170.1	Q8NH67	O52I2_HUMAN	olfactory receptor, family 52, subfamily I, member 2	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|pancreas(1)|skin(1)	19		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		CCTCCTATATCTTAATTCTCA	0.488													G	4608789	C	G	4608789	3	3	621	1	0	0	0	0	1	0	0	0	11197	903	32	4	749	4	OR52I2	11	4608789	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		4608789	130397727	20	51005											
OR51L1	119682	broad.mit.edu	37	chr11	5021019	5021019	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccatcgctttgggaagcaTctgtctcccatagtccacat	8	12	8	13	1	2	0	0	0	2	0	6	1	4	1	3	1	1	2	3	1	2	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:5021019T>C	ENST00000321543.1	+	1	807	c.807T>C	c.(805-807)caT>caC	p.H269H		NM_001004755.1	NP_001004755.1	Q8NGJ5	O51L1_HUMAN	olfactory receptor, family 51, subfamily L, member 1	269					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(19)|skin(2)|stomach(1)	31		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.75e-11)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGGGAAGCATCTGTCTCCCA	0.463													C	5021019	T	C	5021019	2	2	621	1	0	0	0	0	0	0	0	1	11178	1432	50	3		3	OR51L1	11	5021019	Silent	SNP	T	TCGA-HW-8319-01A-11D-2395-08	412230	5021019	129985497	21	51006											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159642	18159642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagagggctctgcaggacaCgcctgaggtggatgaaggtg	9	6	17	9	1	1	3	0	2	1	1	1	5	1	5	2	5	1	2	2	5	1	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:18159642C>T	ENST00000396275.2	+	3	1254	c.893C>T	c.(892-894)aCg>aTg	p.T298M		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	298						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.T298M(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CTGCAGGACACGCCTGAGGTG	0.562													T	18159642	C	T	18159642	3	4	621	1	0	0	0	0	1	0	0	0	9844	536	19	1	895	1	MRGPRX3	11	18159642	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	13138623	18159642	116846874	22	51007											
OR9G4	283189	broad.mit.edu	37	chr11	56510829	56510829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagcccagtacagagggcGgtggacatggtacctgaata	13	6	13	9	1	0	2	0	1	0	1	0	3	0	3	2	4	3	2	2	4	5	3	rs149257582		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr11:56510829G>A	ENST00000302957.3	-	1	458	c.459C>T	c.(457-459)acC>acT	p.T153T		NM_001005284.1	NP_001005284.1	Q8NGQ1	OR9G4_HUMAN	olfactory receptor, family 9, subfamily G, member 4	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						TACAGAGGGCGGTGGACATGG	0.478													A	56510829	G	A	56510829	2	1	621	1	0	0	0	0	0	0	0	1	11327	1103	39	1		1	OR9G4	11	56510829	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	38351187	56510829	78495687	23	51008											
SH2B3	10019	broad.mit.edu	37	chr12	111885310	111885310	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agagcgagacgcggcgtgggGaatacgtgctcactttcaac	10	7	14	10	5	2	2	2	0	0	2	2	4	2	3	0	3	4	1	0	3	3	2	rs72650673	byFrequency	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr12:111885310G>A	ENST00000341259.2	+	6	1555	c.1198G>A	c.(1198-1200)Gaa>Aaa	p.E400K	SH2B3_ENST00000538307.1_Missense_Mutation_p.E198K	NM_005475.2	NP_005466.1	Q9UQQ2	SH2B3_HUMAN	SH2B adaptor protein 3	400	SH2.				blood coagulation	cytosol	signal transducer activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	10						GCGGCGTGGGGAATACGTGCT	0.632													A	111885310	G	A	111885310	3	1	621	1	0	0	0	0	1	0	0	0	14322	1175	41	2	1216	2	SH2B3	12	111885310	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		111885310	21966585	24	51009											
AKAP5	9495	broad.mit.edu	37	chr14	64936370	64936374	+	Frame_Shift_Del	DEL	AATAA	AATAA	-																															atgaaatggcctctgatgatAataaaataaacaatcttcta																										TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:64936370_64936374delAATAA	ENST00000394718.4	+	2	1636_1640	c.1258_1262delAATAA	c.(1258-1263)aataaafs	p.NK420fs	ZBTB25_ENST00000555220.1_Intron|ZBTB25_ENST00000555424.1_Intron|AKAP5_ENST00000320636.5_Frame_Shift_Del_p.NK420fs	NM_004857.3	NP_004848.3	P24588	AKAP5_HUMAN	A kinase (PRKA) anchor protein 5						energy reserve metabolic process|positive regulation of cAMP biosynthetic process|positive regulation of protein kinase A signaling cascade|protein targeting|regulation of insulin secretion|signal transduction|synaptic transmission	cytosol	adenylate cyclase binding|calmodulin binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|stomach(1)	13				all cancers(60;0.00749)|OV - Ovarian serous cystadenocarcinoma(108;0.0095)|BRCA - Breast invasive adenocarcinoma(234;0.0449)		CTCTGATGATAATAAAATAAACAAT	0.341													-	64936374	AATAA	-	64936370	7	5	621	1	0	1	0	1	0	0	0	0	454	362	13	0	1260	0	AKAP5	14	64936370	Frame_Shift_Del	DEL	AATAA	TCGA-HW-8319-01A-11D-2395-08		64936370	42413170	25	51010											
PTGR2	145482	broad.mit.edu	37	chr14	74347933	74347933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatttctggtattaaattatAaagacaaatttgagcctggc	14	14	8	5	0	1	2	0	1	1	1	1	3	1	2	1	2	1	1	1	2	7	6			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:74347933A>G	ENST00000555661.1	+	8	1022	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	PTGR2_ENST00000553813.1_Missense_Mutation_p.K159E|RP5-1021I20.4_ENST00000556551.2_Missense_Mutation_p.K223E|PTGR2_ENST00000555228.1_Missense_Mutation_p.K293E|PTGR2_ENST00000267568.4_Missense_Mutation_p.K293E			Q8N8N7	PTGR2_HUMAN	prostaglandin reductase 2	293					prostaglandin metabolic process		15-oxoprostaglandin 13-oxidase activity|zinc ion binding			NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(2)	9						ATTAAATTATAAAGACAAATT	0.358													G	74347933	A	G	74347933	3	3	621	1	0	0	0	0	1	0	0	0	12840	363	13	3	903	3	PTGR2	14	74347933	Missense_Mutation	SNP	A	TCGA-HW-8319-01A-11D-2395-08	9411563	74347933	33001607	26	51011											
VASH1	22846	broad.mit.edu	37	chr14	77239567	77239567	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaatgtatccttcctcAcctgaaggggaggggtccgg	7	9	15	10	1	1	1	1	1	0	0	4	3	4	3	4	6	0	1	4	6	3	2	rs2075772	by1000genomes	TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr14:77239567A>G	ENST00000554237.1	+	4	1036	c.543A>G	c.(541-543)tcA>tcG	p.S181S	VASH1_ENST00000556038.1_Intron|VASH1_ENST00000167106.4_Intron			Q7L8A9	VASH1_HUMAN	vasohibin 1	0					cell cycle arrest|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|negative regulation of endothelial cell proliferation	endoplasmic reticulum|extracellular space		p.S181S(1)		breast(2)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|stomach(1)|urinary_tract(3)	10			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0283)		ATCCTTCCTCACCTGAAGGGG	0.582													G	77239567	A	G	77239567	2	3	621	1	0	0	0	0	0	0	0	1	17227	174	6	3		3	VASH1	14	77239567	Silent	SNP	A	TCGA-HW-8319-01A-11D-2395-08	2891634	77239567	30109973	27	51012											
ISLR	3671	broad.mit.edu	37	chr15	74467824	74467824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggagcaggacaacatcGcctgcacctcaccccatgtg	9	6	9	17	2	1	0	1	0	0	0	3	2	2	2	5	2	3	2	5	2	1	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr15:74467824G>A	ENST00000249842.3	+	2	982	c.625G>A	c.(625-627)Gcc>Acc	p.A209T	ISLR_ENST00000395118.1_Missense_Mutation_p.A209T|RP11-665J16.1_ENST00000561647.1_RNA	NM_005545.3	NP_005536.1	O14498	ISLR_HUMAN	immunoglobulin superfamily containing leucine-rich repeat	209	LRRCT.				cell adhesion	extracellular region				central_nervous_system(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	20						GGACAACATCGCCTGCACCTC	0.652													A	74467824	G	A	74467824	3	1	621	1	0	0	0	0	1	0	0	0	7916	1087	38	1	627	1	ISLR	15	74467824	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		74467824	28063568	28	51013											
CRAMP1L	57585	broad.mit.edu	37	chr16	1706072	1706072	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagcagagtgccaaggaCgcccacgtgctgcccccagc	9	4	12	16	2	0	1	0	0	0	1	0	2	0	2	4	1	6	3	4	1	2	0			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr16:1706072C>T	ENST00000397412.3	+	10	1413	c.1314C>T	c.(1312-1314)gaC>gaT	p.D438D	CRAMP1L_ENST00000436138.3_Silent_p.D435D|CRAMP1L_ENST00000293925.5_Silent_p.D438D|LA16c-431H6.6_ENST00000454337.1_Intron|CRAMP1L_ENST00000262317.4_Intron			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	438						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						GTGCCAAGGACGCCCACGTGC	0.706													T	1706072	C	T	1706072	2	4	621	1	0	0	0	0	0	0	0	1	3877	535	19	1		1	CRAMP1L	16	1706072	Silent	SNP	C	TCGA-HW-8319-01A-11D-2395-08		1706072	88648681	29	51014											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	621	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08		7577538	73617672	30	51015											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	621	1	0	0	0	0	0	1	0	0	16482	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08	725	7578263	73616947	31	51016											
CANT1	124583	broad.mit.edu	37	chr17	76991172	76991172	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttctcgtggtccacgctgcCcttgtagcccaccaccttca	5	11	8	17	2	2	0	1	0	1	0	4	0	3	0	5	1	2	3	5	1	1	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr17:76991172C>T	ENST00000302345.2	-	3	1257	c.763G>A	c.(763-765)Ggc>Agc	p.G255S	CANT1_ENST00000591773.1_Missense_Mutation_p.G255S|CANT1_ENST00000392446.5_Missense_Mutation_p.G255S	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	255					positive regulation of I-kappaB kinase/NF-kappaB cascade	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to membrane	calcium ion binding|nucleoside-diphosphatase activity|signal transducer activity		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			TCCACGCTGCCCTTGTAGCCC	0.652			T	ETV4	prostate								T	76991172	C	T	76991172	3	4	621	1	0	0	0	0	1	0	0	0	2643	623	22	2	450	2	CANT1	17	76991172	Missense_Mutation	SNP	C	TCGA-HW-8319-01A-11D-2395-08	69412909	76991172	4204038	32	51017											
ZC3H4	23211	broad.mit.edu	37	chr19	47570840	47570840	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgggcttggaggtgggcagGgcgcgagccagccgaggatc	6	5	20	10	4	0	0	0	0	0	0	2	4	0	2	2	6	2	2	2	6	0	1			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr19:47570840G>A	ENST00000253048.5	-	15	2722	c.2685C>T	c.(2683-2685)gcC>gcT	p.A895A	ZC3H4_ENST00000594019.1_Intron	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	895							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		AGGTGGGCAGGGCGCGAGCCA	0.701													A	47570840	G	A	47570840	2	1	621	1	0	0	0	0	0	0	0	1	17671	1219	43	2		2	ZC3H4	19	47570840	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08		47570840	11558143	33	51018											
MYH7B	57644	broad.mit.edu	37	chr20	33581234	33581234	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggcgcggagccgtggccGcctcatgcgccttgagtacc	5	6	15	15	5	1	1	1	1	0	0	1	2	1	2	5	3	3	2	5	3	1	2			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr20:33581234G>A	ENST00000262873.7	+	24	2623	c.2531G>A	c.(2530-2532)cGc>cAc	p.R844H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	802						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			AGCCGTGGCCGCCTCATGCGC	0.672													A	33581234	G	A	33581234	3	1	621	1	0	0	0	0	1	0	0	0	10116	1087	38	1	2625	1	MYH7B	20	33581234	Missense_Mutation	SNP	G	TCGA-HW-8319-01A-11D-2395-08		33581234	29444286	34	51019											
DGCR2	9993	broad.mit.edu	37	chr22	19026633	19026633	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggctcaaaagcatcatcGtctgcaggaagagacagagg	15	5	12	9	1	3	2	2	0	1	2	4	4	3	3	0	3	2	3	0	3	3	0	rs146027196		TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chr22:19026633G>A	ENST00000263196.7	-	10	1645	c.1398C>T	c.(1396-1398)gaC>gaT	p.D466D	DGCR2_ENST00000537045.1_Splice_Site_p.D425D|DGCR2_ENST00000545799.1_3'UTR	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	466					cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	p.D466D(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					AAGCATCATCGTCTGCAGGAA	0.622													A	19026633	G	A	19026633	5	1	621	1	0	0	0	0	0	0	1	0	4500	1159	40	1	258	1	DGCR2	22	19026633	Splice_Site	SNP	G	TCGA-HW-8319-01A-11D-2395-08		19026633	32277933	35	51020											
ATRX	546	broad.mit.edu	37	chrX	76940431	76940431	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcatctatattacctacCtacattgttcatccattcca	11	15	2	13	0	3	0	2	0	1	0	5	0	5	0	4	0	4	2	4	0	5	8			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:76940431C>T	ENST00000373344.5	-	8	876	c.662G>A	c.(661-663)aGg>aAg	p.R221K	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.R183K	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	221	ADD.				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)	TATTACCTACCTACATTGTTC	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76940431	C	T	76940431	5	4	621	1	0	0	0	0	0	0	1	0	1213	695	24	2	6928	2	ATRX	23	76940431	Splice_Site	SNP	C	TCGA-HW-8319-01A-11D-2395-08		76940431	78330129	36	51021											
PLS3	5358	broad.mit.edu	37	chrX	114882253	114882253	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttggcagttgtggatttaaTtgatgccatccagccaggct	8	14	11	8	0	0	1	0	1	0	0	1	2	1	2	3	3	2	3	3	3	1	5			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:114882253T>G	ENST00000420625.2	+	15	1810	c.1676T>G	c.(1675-1677)aTt>aGt	p.I559S	PLS3_ENST00000539310.1_Missense_Mutation_p.I514S|PLS3_ENST00000543070.1_Missense_Mutation_p.I153S|PLS3_ENST00000289290.3_Missense_Mutation_p.I523S|PLS3_ENST00000355899.3_Missense_Mutation_p.I559S|PLS3_ENST00000537301.1_Missense_Mutation_p.I546S	NM_001136025.3|NM_001172335.1|NM_001282338.1	NP_001129497.1|NP_001165806.1|NP_001269267.1	P13797	PLST_HUMAN	plastin 3	559	Actin-binding 2.|CH 4.					cytoplasm	actin binding|calcium ion binding			NS(2)|breast(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(11)	26						GTGGATTTAATTGATGCCATC	0.403													G	114882253	T	G	114882253	3	3	621	1	0	0	0	0	1	0	0	0	12185	1493	52	5	1730	5	PLS3	23	114882253	Missense_Mutation	SNP	T	TCGA-HW-8319-01A-11D-2395-08	37941822	114882253	40388307	37	51022											
ZNF275	10838	broad.mit.edu	37	chrX	152612569	152612569	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtctttaggggggtggcGgagtttaatgagcacaggaa	11	9	17	4	1	1	1	0	1	1	0	1	3	1	3	0	7	1	2	0	7	4	4			TCGA-HW-8319-01A-11D-2395-08	TCGA-HW-8319-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fb65935e-13c0-445a-aa77-e8dde888957e	cc240084-66ac-4c53-a3ee-12444b168db2	g.chrX:152612569G>A	ENST00000421401.3	+	4	603	c.426G>A	c.(424-426)gcG>gcA	p.A142A	ZNF275_ENST00000440091.1_Silent_p.A172A|ZNF275_ENST00000370251.3_Silent_p.A142A|ZNF275_ENST00000370249.2_Silent_p.A89A			A6NFS0	A6NFS0_HUMAN	zinc finger protein 275	142						intracellular	nucleic acid binding|zinc ion binding			endometrium(5)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGGGTGGCGGAGTTTAATG	0.607													A	152612569	G	A	152612569	2	1	621	1	0	0	0	0	0	0	0	1	17911	1103	39	1		1	ZNF275	23	152612569	Silent	SNP	G	TCGA-HW-8319-01A-11D-2395-08	37730316	152612569	2657991	38	51023											
SLC2A7	155184	broad.mit.edu	37	chr1	9085133	9085133	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcgtcggctggagccGctgtaggagacaagtccaag	11	5	14	11	3	0	1	0	0	0	1	2	3	1	2	2	3	3	3	2	3	4	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:9085133G>A	ENST00000400906.1	-	2	51	c.52C>T	c.(52-54)Cgg>Tgg	p.R18W		NM_207420.2	NP_997303.2	Q6PXP3	GTR7_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 7	18						integral to membrane|plasma membrane	sugar transmembrane transporter activity	p.R18W(1)		NS(1)|breast(1)|endometrium(4)|large_intestine(10)|lung(4)|prostate(2)|skin(2)	24	Ovarian(185;0.112)|all_lung(157;0.185)	all_epithelial(116;1.34e-15)|all_lung(118;9.46e-05)|Lung NSC(185;0.000172)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.00715)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.04e-07)|COAD - Colon adenocarcinoma(227;7.66e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|STAD - Stomach adenocarcinoma(132;0.00177)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|READ - Rectum adenocarcinoma(331;0.0642)		GGCTGGAGCCGCTGTAGGAGA	0.652													A	9085133	G	A	9085133	5	1	622	1	0	0	0	0	0	0	1	0	14644	1101	38	1	1530	1	SLC2A7	1	9085133	Splice_Site	SNP	G	TCGA-HW-8320-01A-11D-2395-08		9085133	240165488	1	51024											
MED18	54797	broad.mit.edu	37	chr1	28661302	28661302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatggtgtacaagattttcCgcatcctggtgccagggaac	9	12	11	9	1	0	1	0	0	0	1	2	2	2	2	3	3	3	2	3	3	4	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:28661302C>T	ENST00000373842.4	+	3	657	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	MED18_ENST00000398997.2_Missense_Mutation_p.R150C|MED18_ENST00000479574.1_3'UTR	NM_001127350.1|NM_017638.2	NP_001120822.1|NP_060108.2	Q9BUE0	MED18_HUMAN	mediator complex subunit 18	150					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex	identical protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	7		Colorectal(325;0.000147)|Lung NSC(340;0.000818)|all_lung(284;0.000996)|Renal(390;0.00357)|Breast(348;0.0174)|Myeloproliferative disorder(586;0.0393)|all_neural(195;0.0557)|Ovarian(437;0.113)		OV - Ovarian serous cystadenocarcinoma(117;2.36e-22)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00299)|BRCA - Breast invasive adenocarcinoma(304;0.0141)|READ - Rectum adenocarcinoma(331;0.0649)		CAAGATTTTCCGCATCCTGGT	0.502													T	28661302	C	T	28661302	3	4	622	1	0	0	0	0	1	0	0	0	9511	652	23	1	454	1	MED18	1	28661302	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	19576169	28661302	220589319	2	51025											
CLCA1	1179	broad.mit.edu	37	chr1	86957002	86957002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaacaatggcctcattgatgCttttggggccctttcatcag	8	13	10	10	0	3	1	3	1	0	0	3	2	3	1	2	3	2	1	2	3	2	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:86957002C>T	ENST00000234701.3	+	10	1763	c.1412C>T	c.(1411-1413)gCt>gTt	p.A471V	CLCA1_ENST00000394711.1_Missense_Mutation_p.A471V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	471	VWFA.				calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTCATTGATGCTTTTGGGGCC	0.383													T	86957002	C	T	86957002	3	4	622	1	0	0	0	0	1	0	0	0	3488	797	28	2	1446	2	CLCA1	1	86957002	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	58295700	86957002	162293619	3	51026											
HMCN1	83872	broad.mit.edu	37	chr1	186056428	186056428	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagctatcaatcaagctggCgaaagcaagaaaaagttttc	17	9	8	7	1	2	1	2	0	0	1	3	2	2	1	0	1	3	4	0	1	8	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:186056428C>T	ENST00000271588.4	+	59	9355	c.9126C>T	c.(9124-9126)ggC>ggT	p.G3042G	HMCN1_ENST00000367492.2_Silent_p.G3042G	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3042	Ig-like C2-type 28.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						ATCAAGCTGGCGAAAGCAAGA	0.348													T	186056428	C	T	186056428	2	4	622	1	0	0	0	0	0	0	0	1	7275	755	27	1		1	HMCN1	1	186056428	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	99099426	186056428	63194193	4	51027											
CD55	1604	broad.mit.edu	37	chr1	207500166	207500166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtccagtggagtgacccGttgccagagtgcagaggtaa	9	9	14	9	1	1	3	0	1	1	2	2	4	2	4	3	2	2	3	3	2	1	2	rs146687590	byFrequency	TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:207500166G>A	ENST00000367064.3	+	5	906	c.648G>A	c.(646-648)ccG>ccA	p.P216P	CD55_ENST00000391921.4_Silent_p.P152P|CD55_ENST00000367065.5_Silent_p.P216P|CD55_ENST00000391920.4_Silent_p.P216P|CD55_ENST00000314754.8_Silent_p.P216P|CD55_ENST00000465534.1_3'UTR|CD55_ENST00000367067.4_3'UTR|CD55_ENST00000367063.2_Silent_p.P216P|CD55_ENST00000367062.4_Silent_p.P216P	NM_000574.3	NP_000565.1	P08174	DAF_HUMAN	CD55 molecule, decay accelerating factor for complement (Cromer blood group)	216	Sushi 3.				complement activation, classical pathway|elevation of cytosolic calcium ion concentration|innate immune response|respiratory burst	anchored to membrane|extracellular region|integral to plasma membrane|membrane raft|soluble fraction	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	16					Chloramphenicol(DB00446)	GGAGTGACCCGTTGCCAGAGT	0.398													A	207500166	G	A	207500166	2	1	622	1	0	0	0	0	0	0	0	1	3054	1132	40	1		1	CD55	1	207500166	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	21443738	207500166	41750455	5	51028											
USH2A	7399	broad.mit.edu	37	chr1	216062131	216062131	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcccttccggtgcccctggGagtgtccatacagtctggga	6	10	12	13	1	1	0	0	0	1	0	4	2	4	2	5	3	2	0	5	3	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:216062131G>A	ENST00000366943.2	-	41	8246	c.7860C>T	c.(7858-7860)ctC>ctT	p.L2620L	USH2A_ENST00000307340.3_Silent_p.L2620L|RP5-1111A8.3_ENST00000414995.1_RNA			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	2620					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)		GTGCCCCTGGGAGTGTCCATA	0.502										HNSCC(13;0.011)			A	216062131	G	A	216062131	2	1	622	1	0	0	0	0	0	0	0	1	17138	1161	41	2		2	USH2A	1	216062131	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	8561965	216062131	33188490	6	51029											
OR2T3	343173	broad.mit.edu	37	chr1	248637583	248637583	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgaggagcatgatgcAgtcaagaatgaaccaagaaa	16	6	12	7	0	2	5	1	3	1	2	2	6	2	6	1	2	3	3	1	2	5	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr1:248637583A>G	ENST00000359594.2	+	1	957	c.932A>G	c.(931-933)cAg>cGg	p.Q311R		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	311					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGCATGATGCAGTCAAGAATG	0.473													G	248637583	A	G	248637583	3	3	622	1	0	0	0	0	1	0	0	0	11099	188	7	3	934	3	OR2T3	1	248637583	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	32575452	248637583	613038	7	51030											
SNTG2	54221	broad.mit.edu	37	chr2	1079270	1079270	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctatgacatccggctgaagCtgacgaaagaggtgctgaca	12	7	12	10	2	0	5	0	4	0	1	1	6	1	5	2	2	2	3	2	2	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:1079270C>G	ENST00000308624.5	+	2	268	c.139C>G	c.(139-141)Ctg>Gtg	p.L47V	SNTG2_ENST00000407292.1_Missense_Mutation_p.L47V	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	47					central nervous system development	cytoplasm|cytoskeleton|sarcolemma|syntrophin complex	actin binding|PDZ domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		CCGGCTGAAGCTGACGAAAGA	0.463													G	1079270	C	G	1079270	3	3	622	1	0	0	0	0	1	0	0	0	14969	796	28	4	145	4	SNTG2	2	1079270	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		1079270	242120103	8	51031											
BIRC6	57448	broad.mit.edu	37	chr2	32819095	32819095	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactgctgagatagtttatgCagccaccaccagtttgcggc	9	10	11	11	1	0	1	0	1	0	1	0	3	0	1	3	1	4	4	3	1	2	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:32819095C>T	ENST00000421745.2	+	67	13603	c.13469C>T	c.(13468-13470)gCa>gTa	p.A4490V		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	4490					anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					ATAGTTTATGCAGCCACCACC	0.388													T	32819095	C	T	32819095	3	4	622	1	0	0	0	0	1	0	0	0	1444	710	25	2	13735	2	BIRC6	2	32819095	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	31739825	32819095	210380278	9	51032											
KLF7	8609	broad.mit.edu	37	chr2	207988530	207988530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggtgggcctttaagtggGagctttttgtataaactttc	7	17	11	6	0	1	0	0	0	1	0	2	1	1	1	1	3	2	2	1	3	4	7			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:207988530G>T	ENST00000309446.6	-	2	1077	c.701C>A	c.(700-702)tCc>tAc	p.S234Y	KLF7_ENST00000467833.1_Intron|KLF7_ENST00000412414.2_Missense_Mutation_p.S206Y|KLF7_ENST00000423015.1_Intron|KLF7_ENST00000458272.1_Intron|KLF7_ENST00000421199.1_Missense_Mutation_p.S201Y	NM_003709.3	NP_003700.1	O75840	KLF7_HUMAN	Kruppel-like factor 7 (ubiquitous)	234					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			breast(1)|central_nervous_system(1)|large_intestine(3)|liver(1)|lung(4)|skin(1)	11				LUSC - Lung squamous cell carcinoma(261;0.0856)|Lung(261;0.166)|Epithelial(149;0.173)		CTTTAAGTGGGAGCTTTTTGT	0.542													T	207988530	G	T	207988530	3	4	622	1	0	0	0	0	1	0	0	0	8409	1174	41	4	219	4	KLF7	2	207988530	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	175169435	207988530	35210843	10	51033											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	622	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	1124582	209113112	34086261	11	51034											
ALPPL2	251	broad.mit.edu	37	chr2	233274354	233274354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacgcaggcgaggacgtggcGgtgttcgcgcgcggcccgca	5	4	18	14	9	0	0	0	0	0	0	1	2	0	1	1	5	0	3	1	5	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr2:233274354G>A	ENST00000295453.3	+	11	1423	c.1371G>A	c.(1369-1371)gcG>gcA	p.A457A		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	457					phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	AGGACGTGGCGGTGTTCGCGC	0.667													A	233274354	G	A	233274354	2	1	622	1	0	0	0	0	0	0	0	1	549	1103	39	1		1	ALPPL2	2	233274354	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	24161242	233274354	9925019	12	51035											
CELSR3	1951	broad.mit.edu	37	chr3	48699299	48699299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcggggtgctgaacctgatgCaggagctgtcctcgccgtgc	5	8	16	12	3	0	2	0	2	0	0	2	3	1	3	3	3	5	3	3	3	1	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:48699299C>T	ENST00000544264.1	-	1	1049	c.769G>A	c.(769-771)Gca>Aca	p.A257T	CELSR3_ENST00000164024.4_Missense_Mutation_p.A257T			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	257					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		GAACCTGATGCAGGAGCTGTC	0.701													T	48699299	C	T	48699299	3	4	622	1	0	0	0	0	1	0	0	0	3253	710	25	2	9309	2	CELSR3	3	48699299	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		48699299	149323131	13	51036											
VPS8	23355	broad.mit.edu	37	chr3	184714255	184714255	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgcagcagtacaagagaCgccaagaaatggctgatgaa	15	7	12	7	1	0	4	0	2	0	2	0	5	0	4	1	1	3	5	1	1	5	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr3:184714255C>T	ENST00000287546.4	+	43	3973	c.3802C>T	c.(3802-3804)Cgc>Tgc	p.R1268C	VPS8_ENST00000437079.3_Missense_Mutation_p.R1268C|VPS8_ENST00000446204.2_Missense_Mutation_p.R1176C|VPS8_ENST00000436792.2_Missense_Mutation_p.R1266C	NM_015303.3	NP_056118.2	Q8N3P4	VPS8_HUMAN	vacuolar protein sorting 8 homolog (S. cerevisiae)	1268							zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	54	all_cancers(143;2.51e-11)|Ovarian(172;0.0339)|Breast(254;0.247)		Epithelial(37;1.02e-33)|OV - Ovarian serous cystadenocarcinoma(80;4.81e-22)			GTACAAGAGACGCCAAGAAAT	0.413													T	184714255	C	T	184714255	3	4	622	1	0	0	0	0	1	0	0	0	17320	536	19	1	3968	1	VPS8	3	184714255	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	136014956	184714255	13308175	14	51037											
TBC1D19	55296	broad.mit.edu	37	chr4	26640408	26640408	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagaggccagttggagaaCagaaagaacttcttaataaa	17	8	9	7	0	1	4	0	0	1	4	2	5	2	4	2	2	2	1	2	2	6	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:26640408C>T	ENST00000264866.4	+	6	663	c.385C>T	c.(385-387)Cag>Tag	p.Q129*	TBC1D19_ENST00000511789.1_Nonsense_Mutation_p.Q64*|TBC1D19_ENST00000515568.1_3'UTR	NM_018317.2	NP_060787.2	Q8N5T2	TBC19_HUMAN	TBC1 domain family, member 19	129						intracellular	Rab GTPase activator activity			breast(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	17		Breast(46;0.0503)				AGTTGGAGAACAGAAAGAACT	0.308													T	26640408	C	T	26640408	4	4	622	1	0	0	0	0	0	1	0	0	15704	479	17	2	407	2	TBC1D19	4	26640408	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		26640408	164513868	15	51038											
ENPEP	2028	broad.mit.edu	37	chr4	111397908	111397908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccctgttggaggaggAcacctacacgggcaccgtga	10	5	14	12	2	0	1	0	1	0	0	0	5	0	4	4	4	2	2	4	4	2	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:111397908A>G	ENST00000265162.5	+	1	680	c.338A>G	c.(337-339)gAc>gGc	p.D113G		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	113					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TTGGAGGAGGACACCTACACG	0.622													G	111397908	A	G	111397908	3	3	622	1	0	0	0	0	1	0	0	0	5169	275	10	3	340	3	ENPEP	4	111397908	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	84757500	111397908	79756368	16	51039											
NPY2R	4887	broad.mit.edu	37	chr4	156135956	156135956	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcctctccatgccttccagCttgccgttgacattgacagc	6	12	8	15	1	1	2	0	2	1	0	3	2	2	2	5	0	5	2	5	0	0	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr4:156135956C>T	ENST00000329476.3	+	2	1354	c.865C>T	c.(865-867)Ctt>Ttt	p.L289F	NPY2R_ENST00000506608.1_Missense_Mutation_p.L289F	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	289					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				TGCCTTCCAGCTTGCCGTTGA	0.517													T	156135956	C	T	156135956	3	4	622	1	0	0	0	0	1	0	0	0	10685	797	28	2	867	2	NPY2R	4	156135956	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	44738048	156135956	35018320	17	51040											
PLEKHG4B	153478	broad.mit.edu	37	chr5	182353	182353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgtcgaggaagatgagcCagagccagaactagagacgg	13	4	15	9	3	0	5	0	1	0	4	1	8	0	6	2	2	4	0	2	2	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr5:182353C>T	ENST00000283426.6	+	18	3781	c.3731C>T	c.(3730-3732)cCa>cTa	p.P1244L		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	1244					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GAAGATGAGCCAGAGCCAGAA	0.652													T	182353	C	T	182353	3	4	622	1	0	0	0	0	1	0	0	0	12149	594	21	2	3801	2	PLEKHG4B	5	182353	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		182353	180732907	18	51041											
ADAM28	10863	broad.mit.edu	37	chr8	24193003	24193003	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaccagcaaaagatgagtgCgacctgcctgaaatgtgtaa	15	7	11	8	1	0	4	0	2	0	2	0	5	0	4	3	0	3	2	3	0	4	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:24193003C>T	ENST00000265769.4	+	14	1526	c.1416C>T	c.(1414-1416)tgC>tgT	p.C472C	RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Silent_p.C472C|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Silent_p.C219C|ADAM28_ENST00000540823.1_Silent_p.C239C	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	472	Disintegrin.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGATGAGTGCGACCTGCCTG	0.433													T	24193003	C	T	24193003	2	4	622	1	0	0	0	0	0	0	0	1	246	776	27	1		1	ADAM28	8	24193003	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08		24193003	122171019	19	51042											
ZFHX4	79776	broad.mit.edu	37	chr8	77616608	77616608	+	Frame_Shift_Del	DEL	C	C	-																															tttcccagtttacagaaataCatggaacaccactgccctaa																										TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:77616608delC	ENST00000521891.2	+	2	733	c.285delC	c.(283-285)tacfs	p.Y95fs	ZFHX4_ENST00000517683.1_Intron|ZFHX4_ENST00000518282.1_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000050961.6_Frame_Shift_Del_p.Y95fs|ZFHX4_ENST00000455469.2_Frame_Shift_Del_p.Y95fs	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	95						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			TACAGAAATACATGGAACACC	0.498										HNSCC(33;0.089)			-	77616608	C	-	77616608	7	5	622	1	0	1	0	1	0	0	0	0	17736	489	17	0	287	0	ZFHX4	8	77616608	Frame_Shift_Del	DEL	C	TCGA-HW-8320-01A-11D-2395-08	53423605	77616608	68747414	20	51043											
ANGPT1	284	broad.mit.edu	37	chr8	108306212	108306212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatctagacttccatcttcAcgatgttgtattacagtcca	12	14	5	10	1	3	1	1	0	2	1	5	2	5	1	2	0	1	2	2	0	4	6			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:108306212A>G	ENST00000520734.1	-	5	675	c.390T>C	c.(388-390)cgT>cgC	p.R130R	ANGPT1_ENST00000518386.1_5'UTR|ANGPT1_ENST00000520052.1_Silent_p.R129R			Q15389	ANGP1_HUMAN	angiopoietin 1	330					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			TTCCATCTTCACGATGTTGTA	0.343													G	108306212	A	G	108306212	2	3	622	1	0	0	0	0	0	0	0	1	610	146	6	3		3	ANGPT1	8	108306212	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	30689604	108306212	38057810	21	51044											
EPPK1	83481	broad.mit.edu	37	chr8	144940776	144940776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccctccaggtagcgcttgaCgcggtcgtcctccatgagct	5	9	12	15	4	0	2	0	2	0	0	4	2	3	2	4	2	2	3	4	2	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr8:144940776C>T	ENST00000525985.1	-	2	6717	c.6646G>A	c.(6646-6648)Gtc>Atc	p.V2216I				P58107	EPIPL_HUMAN	epiplakin 1	2216						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TAGCGCTTGACGCGGTCGTCC	0.627													T	144940776	C	T	144940776	3	4	622	1	0	0	0	0	1	0	0	0	5231	536	19	1	620	1	EPPK1	8	144940776	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08	36634564	144940776	1423246	22	51045											
SPAG8	26206	broad.mit.edu	37	chr9	35811425	35811425	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacaggggctgagctcagaGtcagggccagtgtctggacc	9	7	15	10	0	3	2	2	1	1	1	3	3	3	3	2	4	2	2	2	4	1	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:35811425G>A	ENST00000340291.2	-	2	742	c.618C>T	c.(616-618)gaC>gaT	p.D206D	SPAG8_ENST00000396638.2_Silent_p.D206D|SPAG8_ENST00000484764.1_Silent_p.D204D	NM_172312.1	NP_758516.1	Q99932	SPAG8_HUMAN	sperm associated antigen 8	206						acrosomal vesicle|membrane				NS(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(1)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16	all_epithelial(49;0.161)		LUSC - Lung squamous cell carcinoma(32;0.00521)|Lung(28;0.00697)|STAD - Stomach adenocarcinoma(86;0.194)			TGAGCTCAGAGTCAGGGCCAG	0.627													A	35811425	G	A	35811425	2	1	622	1	0	0	0	0	0	0	0	1	15080	1020	36	2		2	SPAG8	9	35811425	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08		35811425	105402006	23	51046											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112898643	112898643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccttactgatcaccaCgaatccctggataatgatgt	10	11	8	12	1	1	2	1	2	0	0	3	4	3	3	4	2	1	0	4	2	3	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr9:112898643C>T	ENST00000374530.3	+	8	999	c.819C>T	c.(817-819)caC>caT	p.H273H	PALM2-AKAP2_ENST00000302798.7_Silent_p.H273H|AKAP2_ENST00000434623.2_Silent_p.H131H|AKAP2_ENST00000374525.1_Silent_p.H131H|AKAP2_ENST00000510514.5_Silent_p.H273H|AKAP2_ENST00000259318.7_Silent_p.H42H|AKAP2_ENST00000555236.1_Silent_p.H273H	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		42							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						CTGATCACCACGAATCCCTGG	0.493													T	112898643	C	T	112898643	2	4	622	1	0	0	0	0	0	0	0	1	11486	535	19	1		1	PALM2-AKAP2	9	112898643	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	77087218	112898643	28314788	24	51047											
ZNF33B	7582	broad.mit.edu	37	chr10	43088769	43088769	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccctgtgtgcgttctctgAtgtattgtgaggtctgactt	4	17	11	9	1	2	3	0	3	2	0	4	3	3	3	2	1	1	2	2	1	1	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:43088769A>G	ENST00000359467.3	-	5	1743	c.1629T>C	c.(1627-1629)caT>caC	p.H543H	ZNF33B_ENST00000486187.1_RNA	NM_006955.1	NP_008886.1	Q06732	ZN33B_HUMAN	zinc finger protein 33B	543						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(15)|skin(1)|stomach(1)	29						GCGTTCTCTGATGTATTGTGA	0.428													G	43088769	A	G	43088769	2	3	622	1	0	0	0	0	0	0	0	1	17956	330	12	3		3	ZNF33B	10	43088769	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08		43088769	92445978	25	51048											
RPS24	6229	broad.mit.edu	37	chr10	79793660	79793660	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagatagatcgccatcAtggtgagtctccctgggccc	8	10	11	12	1	3	4	1	2	2	2	5	4	3	4	3	2	0	0	3	2	2	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:79793660A>C	ENST00000440692.1	+	1	143	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	RPS24_ENST00000476545.1_3'UTR|RPS24_ENST00000435275.1_Start_Codon_SNP_p.M1L|RPS24_ENST00000372360.3_Start_Codon_SNP_p.M1L|RPS24_ENST00000360830.4_Start_Codon_SNP_p.M1L	NM_001142285.1	NP_001135757.1	P62847	RS24_HUMAN	ribosomal protein S24	1					endocrine pancreas development|erythrocyte homeostasis|maturation of SSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleolus	nucleotide binding|structural constituent of ribosome|translation initiation factor binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|ovary(2)|skin(1)	5	all_cancers(46;0.0343)|all_epithelial(25;0.000959)|Breast(12;0.00113)|Prostate(51;0.0095)		Epithelial(14;0.00128)|OV - Ovarian serous cystadenocarcinoma(4;0.00248)|all cancers(16;0.00428)			GATCGCCATCATGGTGAGTCT	0.607													C	79793660	A	C	79793660	1	2	622	1	0	0	0	0	0	0	0	0	13726	217	8	5		5	RPS24	10	79793660	Translation_Start_Site	SNP	A	TCGA-HW-8320-01A-11D-2395-08	36704891	79793660	55741087	26	51049											
MRPL43	84545	broad.mit.edu	37	chr10	102739072	102739072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaagaaactgcggacagcaTaggggctggagcagaggtca	13	4	16	8	1	1	2	1	0	0	2	1	4	1	4	0	5	4	4	0	5	3	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr10:102739072T>C	ENST00000318325.2	-	5	639	c.586A>G	c.(586-588)Atg>Gtg	p.M196V	MRPL43_ENST00000370241.3_Intron|SEMA4G_ENST00000210633.3_Intron|MRPL43_ENST00000370242.4_Missense_Mutation_p.Y238C|SEMA4G_ENST00000517724.1_Intron|SEMA4G_ENST00000370250.4_Intron	NM_176792.2	NP_789762.1	Q8N983	RM43_HUMAN	mitochondrial ribosomal protein L43	196					translation	mitochondrial ribosome	protein binding|structural constituent of ribosome			endometrium(1)|skin(2)|upper_aerodigestive_tract(1)	4		Colorectal(252;0.234)		Epithelial(162;6.21e-09)|all cancers(201;3.14e-07)		GCGGACAGCATAGGGGCTGGA	0.502													C	102739072	T	C	102739072	3	2	622	1	0	0	0	0	1	0	0	0	9883	1406	49	3	65	3	MRPL43	10	102739072	Missense_Mutation	SNP	T	TCGA-HW-8320-01A-11D-2395-08	22945412	102739072	32795675	27	51050											
KRTAP5-4	387267	broad.mit.edu	37	chr11	1642985	1642985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccccttggaacccccacaGgagccacagccccccttgga	8	4	8	21	0	0	0	0	0	0	0	0	3	0	3	9	3	3	0	9	3	1	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:1642985G>A	ENST00000399682.1	-	1	383	c.339C>T	c.(337-339)tcC>tcT	p.S113S		NM_001012709.1	NP_001012727	Q6L8H1	KRA54_HUMAN	keratin associated protein 5-4	113	9 X 4 AA repeats of C-C-X-P.					keratin filament				NS(1)|endometrium(9)|kidney(2)|lung(2)|pancreas(1)|prostate(3)|skin(2)	20		all_epithelial(84;0.00819)|Breast(177;0.00832)|Ovarian(85;0.0256)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		AACCCCCACAGGAGCCACAGC	0.667													A	1642985	G	A	1642985	2	1	622	1	0	0	0	0	0	0	0	1	8622	987	35	2		2	KRTAP5-4	11	1642985	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08		1642985	133363531	28	51051											
PACSIN3	29763	broad.mit.edu	37	chr11	47202192	47202192	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcgctcagccgctcagcCgccgtgaaaaaggcatgcca	10	4	12	15	5	2	1	2	1	0	0	2	1	2	1	4	1	4	3	4	1	2	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:47202192C>T	ENST00000539589.1	-	5	603	c.261G>A	c.(259-261)gcG>gcA	p.A87A	PACSIN3_ENST00000298838.6_Silent_p.A87A	NM_001184975.1	NP_001171904.1	Q9UKS6	PACN3_HUMAN	protein kinase C and casein kinase substrate in neurons 3	87					endocytosis|negative regulation of endocytosis|positive regulation of membrane protein ectodomain proteolysis	cytoplasm|plasma membrane	cytoskeletal protein binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)	11						GCCGCTCAGCCGCCGTGAAAA	0.677													T	47202192	C	T	47202192	2	4	622	1	0	0	0	0	0	0	0	1	11452	639	23	1		1	PACSIN3	11	47202192	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	45559207	47202192	87804324	29	51052											
SLC22A6	9356	broad.mit.edu	37	chr11	62749448	62749448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagccaatcaaggtgcccacGcaggcccgtgtgtgaatggg	9	7	14	11	2	1	1	1	1	0	0	1	1	1	1	3	3	2	1	3	3	4	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:62749448G>A	ENST00000377871.3	-	4	929	c.663C>T	c.(661-663)tgC>tgT	p.C221C	SLC22A6_ENST00000360421.4_Silent_p.C221C|SLC22A6_ENST00000421062.2_Silent_p.C221C|SLC22A6_ENST00000458333.2_Silent_p.C221C|SLC22A6_ENST00000537349.1_5'UTR	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	221					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						AGGTGCCCACGCAGGCCCGTG	0.607													A	62749448	G	A	62749448	2	1	622	1	0	0	0	0	0	0	0	1	14552	1079	38	1		1	SLC22A6	11	62749448	Silent	SNP	G	TCGA-HW-8320-01A-11D-2395-08	15547256	62749448	72257068	30	51053											
ZFPL1	7542	broad.mit.edu	37	chr11	64855533	64855533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccgggccgcagctgacagcGatcccaacctggacccactc	8	4	11	18	3	0	1	0	1	0	0	2	3	1	2	5	2	3	2	5	2	1	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr11:64855533G>A	ENST00000294258.3	+	8	1032	c.880G>A	c.(880-882)Gat>Aat	p.D294N		NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	294					regulation of transcription, DNA-dependent|vesicle-mediated transport	Golgi apparatus|integral to membrane|nucleus	DNA binding|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						AGCTGACAGCGATCCCAACCT	0.662													A	64855533	G	A	64855533	3	1	622	1	0	0	0	0	1	0	0	0	17757	1058	37	1	906	1	ZFPL1	11	64855533	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	2106085	64855533	70150983	31	51054											
DDX51	317781	broad.mit.edu	37	chr12	132625414	132625414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatacttccccgaatcccCgtccccatctgtatcttcca	7	11	5	18	2	2	0	0	0	2	0	6	1	6	0	7	1	1	2	7	1	3	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr12:132625414C>T	ENST00000397333.3	-	9	1440	c.1402G>A	c.(1402-1404)Ggg>Agg	p.G468R		NM_175066.3	NP_778236.2	Q8N8A6	DDX51_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 51	468					rRNA processing	nucleolus	ATP binding|ATP-dependent helicase activity|RNA binding			endometrium(1)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	10	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.241)		OV - Ovarian serous cystadenocarcinoma(86;7.59e-08)|Epithelial(86;3.62e-07)|all cancers(50;2.13e-05)		CCCGAATCCCCGTCCCCATCT	0.617													T	132625414	C	T	132625414	3	4	622	1	0	0	0	0	1	0	0	0	4403	652	23	1	626	1	DDX51	12	132625414	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		132625414	1226481	32	51055											
CPSF2	53981	broad.mit.edu	37	chr14	92625466	92625466	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagaagaaggagaactaaAggatgatggagaagactcag	18	7	13	3	0	1	6	1	1	0	5	1	9	1	7	0	3	1	0	0	3	7	3			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr14:92625466A>G	ENST00000298875.4	+	14	2246	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R		NM_017437.2	NP_059133.1	Q9P2I0	CPSF2_HUMAN	cleavage and polyadenylation specific factor 2, 100kDa	654				K -> R (in Ref. 3; AAH70095).	histone mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex	hydrolase activity|protein binding|RNA binding			breast(2)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	24		all_cancers(154;0.0766)		COAD - Colon adenocarcinoma(157;0.222)		GGAGAACTAAAGGATGATGGA	0.413													G	92625466	A	G	92625466	3	3	622	1	0	0	0	0	1	0	0	0	3856	72	3	3	2007	3	CPSF2	14	92625466	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08		92625466	14724074	33	51056											
ITGAE	3682	broad.mit.edu	37	chr17	3664729	3664729	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttggcctgagcctggggaCggaggtcagggcccaggagg	7	5	20	9	1	1	1	1	1	0	0	1	4	1	4	3	8	1	1	3	8	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:3664729C>T	ENST00000263087.4	-	5	499	c.401G>A	c.(400-402)cGt>cAt	p.R134H		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	134					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		AGCCTGGGGACGGAGGTCAGG	0.557													T	3664729	C	T	3664729	3	4	622	1	0	0	0	0	1	0	0	0	7943	536	19	1	3246	1	ITGAE	17	3664729	Missense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		3664729	77530481	34	51057											
TP53	7157	broad.mit.edu	37	chr17	7577576	7577582	+	Frame_Shift_Del	DEL	GTTGTAG	GTTGTAG	-																															caggaactgttacacatgtaGttgtagtggatggtggtaca																								rs144340710		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:7577576_7577582delGTTGTAG	ENST00000420246.2	-	7	831_837	c.699_705delCTACAAC	c.(697-705)cactacaacfs	p.HYN233fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.HYN233fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.HYN233fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	233	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.Y234C(94)|p.Y234H(20)|p.Y234N(14)|p.N235S(14)|p.Y234S(9)|p.Y141C(8)|p.0?(8)|p.N235D(7)|p.Y234D(6)|p.?(5)|p.N235I(4)|p.Y234*(4)|p.Y234del(3)|p.N235T(3)|p.N235fs*5(2)|p.N235Y(2)|p.H233Q(2)|p.N235fs*12(2)|p.Y141S(2)|p.C229_H233delCTTIH(2)|p.H233fs*6(2)|p.N235del(2)|p.N235fs*6(1)|p.Y234fs*2(1)|p.V225fs*23(1)|p.Y236fs*4(1)|p.Y234fs*5(1)|p.Y234fs*4(1)|p.T230_Y234delTTIHY(1)|p.Y141N(1)|p.Y234Y(1)|p.D228fs*12(1)|p.Y234F(1)|p.I232fs*5(1)|p.Y141H(1)|p.I232_Y236delIHYNY(1)|p.Y141D(1)|p.N235>XX(1)|p.N235M(1)|p.Y234R(1)|p.N235H(1)|p.H233_C242del10(1)|p.N235_Y236delNY(1)|p.Y234_N235insX(1)|p.H233del(1)|p.Y236fs*5(1)|p.Y234fs*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)		TACACATGTAGTTGTAGTGGATGGTGG	0.57		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)			-	7577582	GTTGTAG	-	7577576	7	5	622	1	0	1	0	1	0	0	0	0	16482	1020	36	0	585	0	TP53	17	7577576	Frame_Shift_Del	DEL	GTTGTAG	TCGA-HW-8320-01A-11D-2395-08	3912847	7577576	73617634	35	51058											
RNF112	7732	broad.mit.edu	37	chr17	19316087	19316087	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcagcggccgctgcccccTgcactgcaggtctggggact	4	6	14	17	3	1	0	0	0	1	0	1	1	1	1	4	4	4	4	4	4	0	0	rs68012060		TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:19316087T>A	ENST00000461366.1	+	3	587	c.372T>A	c.(370-372)ccT>ccA	p.P124P	CTB-187M2.2_ENST00000579897.1_RNA|RNF112_ENST00000580109.1_3'UTR	NM_007148.4	NP_009079.2	Q7Z5V9	Q7Z5V9_HUMAN	ring finger protein 112	124							GTP binding|GTPase activity|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	12						CGCTGCCCCCTGCACTGCAGG	0.627													A	19316087	T	A	19316087	2	1	622	1	0	0	0	0	0	0	0	1	13517	1567	55	5		5	RNF112	17	19316087	Silent	SNP	T	TCGA-HW-8320-01A-11D-2395-08	11738511	19316087	61879123	36	51059											
CNTD1	124817	broad.mit.edu	37	chr17	40956252	40956252	+	Silent	SNP	A	A	T																															cttccctacaggtttatggtAaaacaggcagagaacatctg																										TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956252A>T	ENST00000588408.1	+	3	531	c.255A>T	c.(253-255)gtA>gtT	p.V85V	CNTD1_ENST00000588527.1_Silent_p.V2V	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	85	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGTTTATGGTAAAACAGGCAG	0.438													T	40956252	A	T	40956252	2	4	622	1	0	0	0	0	0	0	0	1	3666	349	13	5		5	CNTD1	17	40956252	Silent	SNP	A	TCGA-HW-8320-01A-11D-2395-08	21640165	40956252	40238958	37	51060	164	2									
CNTD1	124817	broad.mit.edu	37	chr17	40956254	40956254	+	Missense_Mutation	SNP	A	A	T																															tccctacaggtttatggtaaAacaggcagagaacatctgca																										TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:40956254A>T	ENST00000588408.1	+	3	533	c.257A>T	c.(256-258)aAa>aTa	p.K86I	CNTD1_ENST00000588527.1_Missense_Mutation_p.K3I	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	86	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		TTTATGGTAAAACAGGCAGAG	0.438													T	40956254	A	T	40956254	3	4	622	1	0	0	0	0	1	0	0	0	3666	14	1	5	267	5	CNTD1	17	40956254	Missense_Mutation	SNP	A	TCGA-HW-8320-01A-11D-2395-08	2	40956254	40238956	38	51061	164	2									
CARD14	79092	broad.mit.edu	37	chr17	78169012	78169012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagctcttgtcggacctgaGtgccacgtccagccgcgagc	6	8	12	15	4	2	1	1	1	1	0	4	3	3	2	4	1	4	1	4	1	0	1			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:78169012G>A	ENST00000573882.1	+	12	1915	c.1379G>A	c.(1378-1380)aGt>aAt	p.S460N	CARD14_ENST00000573754.1_3'UTR|CARD14_ENST00000344227.2_Missense_Mutation_p.S460N|CARD14_ENST00000392434.2_Missense_Mutation_p.S223N|CARD14_ENST00000570421.1_Missense_Mutation_p.S460N			Q9BXL6	CAR14_HUMAN	caspase recruitment domain family, member 14	460					activation of NF-kappaB-inducing kinase activity|positive regulation of protein phosphorylation|regulation of apoptosis	aggresome|cytoplasm|plasma membrane	CARD domain binding			NS(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(5)|prostate(1)|skin(1)	23	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.017)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			TCGGACCTGAGTGCCACGTCC	0.677													A	78169012	G	A	78169012	3	1	622	1	0	0	0	0	1	0	0	0	2672	1029	36	2	1413	2	CARD14	17	78169012	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08	37212758	78169012	3026198	39	51062											
HGS	9146	broad.mit.edu	37	chr17	79653396	79653396	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaacgacaagaacccacaCgtcgccttgtatgccctgga	11	7	9	14	3	1	1	1	0	0	1	2	3	1	2	3	1	3	1	3	1	4	2			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr17:79653396C>T	ENST00000329138.4	+	3	312	c.177C>T	c.(175-177)caC>caT	p.H59H		NM_004712.4	NP_004703.1	O14964	HGS_HUMAN	hepatocyte growth factor-regulated tyrosine kinase substrate	59	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of JAK-STAT cascade|regulation of protein catabolic process	cytosol|early endosome membrane|multivesicular body membrane	metal ion binding|protein domain specific binding			endometrium(2)|kidney(3)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	12	all_neural(118;0.0878)|all_lung(278;0.23)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0955)			AGAACCCACACGTCGCCTTGT	0.483													T	79653396	C	T	79653396	2	4	622	1	0	0	0	0	0	0	0	1	7142	535	19	1		1	HGS	17	79653396	Silent	SNP	C	TCGA-HW-8320-01A-11D-2395-08	1484384	79653396	1541814	40	51063											
PAK4	10298	broad.mit.edu	37	chr19	39664275	39664275	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggcctggccatcccccaGtcctcctcctcctcctcccg	2	8	9	22	1	0	0	0	0	0	0	7	0	7	0	10	3	0	0	10	3	0	0			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr19:39664275G>C	ENST00000599386.1	+	4	445	c.264G>C	c.(262-264)caG>caC	p.Q88H	PAK4_ENST00000599470.1_Missense_Mutation_p.Q88H|PAK4_ENST00000593690.1_Missense_Mutation_p.Q241H|PAK4_ENST00000358301.3_Missense_Mutation_p.Q241H|PAK4_ENST00000435673.2_Missense_Mutation_p.Q241H|PAK4_ENST00000360442.3_Missense_Mutation_p.Q241H|PAK4_ENST00000321944.4_Missense_Mutation_p.Q151H	NM_001014835.1	NP_001014835.1	O96013	PAK4_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 4	241	Linker.				cellular component movement|signal transduction	Golgi apparatus	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	13	all_cancers(60;1.03e-07)|all_epithelial(25;9.66e-08)|all_lung(34;1.58e-07)|Lung NSC(34;1.88e-07)|Ovarian(47;0.0454)		Epithelial(26;4.82e-25)|all cancers(26;2.94e-22)|Lung(45;0.000797)|LUSC - Lung squamous cell carcinoma(53;0.00113)			CCATCCCCCAGTCCTCCTCCT	0.701													C	39664275	G	C	39664275	3	2	622	1	0	0	0	0	1	0	0	0	11479	1020	36	4	733	4	PAK4	19	39664275	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		39664275	19464708	41	51064											
CTNNBL1	56259	broad.mit.edu	37	chr20	36431347	36431347	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccgaaggcacagacaactgCcataagtttgttgacattct	12	10	8	11	1	1	2	0	1	1	1	1	3	1	2	2	1	2	3	2	1	3	4			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr20:36431347C>A	ENST00000405275.2	+	12	1272	c.1029C>A	c.(1027-1029)tgC>tgA	p.C343*	CTNNBL1_ENST00000373473.1_Nonsense_Mutation_p.C183*|CTNNBL1_ENST00000361383.6_Nonsense_Mutation_p.C370*|CTNNBL1_ENST00000473857.1_3'UTR|CTNNBL1_ENST00000373469.1_Nonsense_Mutation_p.C118*	NM_001281495.1	NP_001268424.1	Q8WYA6	CTBL1_HUMAN	catenin, beta like 1	370					apoptosis|positive regulation of apoptosis|somatic diversification of immunoglobulins	nucleus	enzyme binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(6)|lung(6)|ovary(3)|urinary_tract(1)	28		Myeloproliferative disorder(115;0.00878)				CAGACAACTGCCATAAGTTTG	0.478													A	36431347	C	A	36431347	4	1	622	1	0	0	0	0	0	1	0	0	4051	747	26	4	1152	4	CTNNBL1	20	36431347	Nonsense_Mutation	SNP	C	TCGA-HW-8320-01A-11D-2395-08		36431347	26594173	42	51065											
TPTE	7179	broad.mit.edu	37	chr21	10907011	10907011	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgctttttgtttatgtagaTtatccaattcattttttggt	7	23	7	4	0	1	1	1	0	0	1	2	1	2	1	1	1	1	3	1	1	4	10			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chr21:10907011T>A	ENST00000298232.7	-	23	1863	c.1496A>T	c.(1495-1497)aAt>aTt	p.N499I	TPTE_ENST00000342420.5_Missense_Mutation_p.N479I|TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.N517I	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	517	C2 tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTATGTAGATTATCCAATTC	0.368													A	10907011	T	A	10907011	3	1	622	1	0	0	0	0	1	0	0	0	16531	1493	52	5	109	5	TPTE	21	10907011	Missense_Mutation	SNP	T	TCGA-HW-8320-01A-11D-2395-08		10907011	37222884	43	51066											
DOCK11	139818	broad.mit.edu	37	chrX	117695460	117695460	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggttgcatctacttggacGcctgcattgatgttgttcag	8	14	11	8	1	2	1	1	1	1	0	2	2	2	2	1	2	3	5	1	2	2	6			TCGA-HW-8320-01A-11D-2395-08	TCGA-HW-8320-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	25810971-a72b-4635-a466-98bfda6e656a	e934d4ae-b158-4ffd-8151-ee7d7ded6e56	g.chrX:117695460G>A	ENST00000276204.6	+	7	747	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DOCK11_ENST00000276202.7_Missense_Mutation_p.A225T			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	225	PH.				blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTACTTGGACGCCTGCATTGA	0.378													A	117695460	G	A	117695460	3	1	622	1	0	0	0	0	1	0	0	0	4725	1087	38	1	699	1	DOCK11	23	117695460	Missense_Mutation	SNP	G	TCGA-HW-8320-01A-11D-2395-08		117695460	37575100	44	51067											
C8B	732	broad.mit.edu	37	chr1	57422478	57422478	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaagccttcacatcgcacttGacttccgcatggtctgttgg	8	12	9	12	2	2	1	1	1	1	0	4	1	3	1	2	2	1	3	2	2	1	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:57422478G>C	ENST00000543257.1	-	4	765	c.199C>G	c.(199-201)Caa>Gaa	p.Q67E	C8B_ENST00000371237.4_Missense_Mutation_p.Q119E|C8B_ENST00000535057.1_Missense_Mutation_p.Q57E	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	119	TSP type-1 1.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						CATCGCACTTGACTTCCGCAT	0.478													C	57422478	G	C	57422478	3	2	623	1	0	0	0	0	1	0	0	0	2441	1299	45	4	1460	4	C8B	1	57422478	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		57422478	191828143	1	51068											
ASPM	259266	broad.mit.edu	37	chr1	197111767	197111768	+	Frame_Shift_Ins	INS	-	-	T																															agataagaatgaaaatcttcINStttttccttttgattattta																										TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr1:197111767_197111768insT	ENST00000367409.4	-	3	1870_1871	c.1614_1615insA	c.(1612-1617)aaagaafs	p.E539fs	ASPM_ENST00000294732.7_Frame_Shift_Ins_p.E539fs	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	539					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TGAAAATCTTCTTTTTCCTTTT	0.322													T	197111768	-	T	197111767	7	5	623	1	0	1	1	0	0	0	0	0	1061	922	32	0	8922	0	ASPM	1	197111767	Frame_Shift_Ins	INS	-	TCGA-HW-8321-01A-11D-2395-08	139689289	197111767	52138854	2	51069											
DNMT3A	1788	broad.mit.edu	37	chr2	25457209	25457209	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggatgactggcacgctcCatgaccggcccagcagtctc	7	6	13	15	3	1	2	0	2	1	0	3	3	2	3	3	4	1	3	3	4	0	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:25457209C>T	ENST00000264709.3	-	23	3015	c.2678G>A	c.(2677-2679)tGg>tAg	p.W893*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W670*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W893*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W704*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	893					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.W893S(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGGCACGCTCCATGACCGGCC	0.557			"Mis, F, N, S"		AML								T	25457209	C	T	25457209	4	4	623	1	0	0	0	0	0	1	0	0	4715	595	21	2	64	2	DNMT3A	2	25457209	Nonsense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		25457209	217742164	3	51070											
KIAA1841	84542	broad.mit.edu	37	chr2	61310289	61310289	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattttctatgattttttagGttgaacagtgtattcagtat	10	21	7	3	0	2	2	1	2	1	0	2	2	2	2	0	1	1	3	0	1	6	11			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:61310289G>C	ENST00000402291.1	+	8	971	c.730G>C	c.(730-732)Gtt>Ctt	p.V244L	KIAA1841_ENST00000482513.1_3'UTR|KIAA1841_ENST00000356719.2_Splice_Site_p.V244L|KIAA1841_ENST00000453873.1_Splice_Site_p.V244L|KIAA1841_ENST00000295031.5_Splice_Site_p.V244L	NM_001129993.1	NP_001123465.1	Q6NSI8	K1841_HUMAN	KIAA1841	244										breast(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	25			Epithelial(17;0.193)			GATTTTTTAGGTTGAACAGTG	0.318													C	61310289	G	C	61310289	5	2	623	1	0	0	0	0	0	0	1	0	8319	1275	44	4	752	4	KIAA1841	2	61310289	Splice_Site	SNP	G	TCGA-HW-8321-01A-11D-2395-08	35853080	61310289	181889084	4	51071											
IL1RL2	8808	broad.mit.edu	37	chr2	102835531	102835531	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgaatccaaacgaatcagAgaaggggtggagtaggtgtt	14	8	15	4	1	1	2	1	1	0	1	2	6	2	3	1	4	1	2	1	4	5	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:102835531A>G	ENST00000264257.2	+	7	969	c.843A>G	c.(841-843)agA>agG	p.R281R	IL1RL2_ENST00000441515.2_Silent_p.R163R|IL1RL2_ENST00000539491.1_Silent_p.R281R|IL1RL2_ENST00000481806.1_3'UTR	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	281	Ig-like C2-type 3.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						AACGAATCAGAGAAGGGGTGG	0.403													G	102835531	A	G	102835531	2	3	623	1	0	0	0	0	0	0	0	1	7722	301	11	3		3	IL1RL2	2	102835531	Silent	SNP	A	TCGA-HW-8321-01A-11D-2395-08	41525242	102835531	140363842	5	51072											
ST6GAL2	84620	broad.mit.edu	37	chr2	107446647	107446647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatttgggtttctctgaCgatgctgaatatatggagtg	8	15	13	5	1	1	3	0	3	1	0	2	5	1	4	0	2	1	3	0	2	3	4	rs144935783		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:107446647C>T	ENST00000409382.3	-	5	1803	c.1193G>A	c.(1192-1194)cGt>cAt	p.R398H	ST6GAL2_ENST00000361686.4_Missense_Mutation_p.R398H|ST6GAL2_ENST00000409087.3_Missense_Mutation_p.R398H	NM_001142351.1	NP_001135823.1	Q96JF0	SIAT2_HUMAN	ST6 beta-galactosamide alpha-2,6-sialyltranferase 2	398					growth|multicellular organismal development|oligosaccharide metabolic process|protein glycosylation	Golgi cisterna membrane|integral to Golgi membrane	beta-galactoside alpha-2,6-sialyltransferase activity	p.R398H(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(30)|ovary(5)|pancreas(6)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	65						GTTTCTCTGACGATGCTGAAT	0.353													T	107446647	C	T	107446647	3	4	623	1	0	0	0	0	1	0	0	0	15318	536	19	1	491	1	ST6GAL2	2	107446647	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	4611116	107446647	135752726	6	51073											
ZNF804A	91752	broad.mit.edu	37	chr2	185801555	185801555	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataatctagataaaaataagCcagacttaaaagatctttgt	19	12	5	5	0	2	3	0	0	2	3	2	3	2	3	1	0	1	0	1	0	8	6			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:185801555C>G	ENST00000302277.6	+	4	2026	c.1432C>G	c.(1432-1434)Cca>Gca	p.P478A		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	478						intracellular	zinc ion binding			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						TAAAAATAAGCCAGACTTAAA	0.343													G	185801555	C	G	185801555	3	3	623	1	0	0	0	0	1	0	0	0	18269	739	26	4	1446	4	ZNF804A	2	185801555	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	78354908	185801555	57397818	7	51074											
FZD5	7855	broad.mit.edu	37	chr2	208632020	208632020	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgggcaggcgcaggtgaGcgccgcctcccagctctcgc	4	4	15	18	5	1	1	0	1	1	0	3	1	2	1	4	3	2	3	4	3	0	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:208632020G>T	ENST00000295417.3	-	2	1997	c.1444C>A	c.(1444-1446)Ctc>Atc	p.L482I		NM_003468.3	NP_003459.2	Q13467	FZD5_HUMAN	frizzled family receptor 5	482					angiogenesis|anterior/posterior axis specification, embryo|axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to molecule of bacterial origin|embryonic camera-type eye development|gonad development|labyrinthine layer blood vessel development|positive regulation of interferon-gamma production|positive regulation of transcription from RNA polymerase II promoter|post-embryonic camera-type eye development|Spemann organizer formation|T cell differentiation in thymus|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell projection|cell surface|Golgi membrane|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|protein kinase binding|Wnt-protein binding			NS(1)|kidney(1)|lung(1)|ovary(2)|prostate(1)|skin(1)	7				LUSC - Lung squamous cell carcinoma(261;0.0703)|Epithelial(149;0.13)|Lung(261;0.134)		GCGCAGGTGAGCGCCGCCTCC	0.667													T	208632020	G	T	208632020	3	4	623	1	0	0	0	0	1	0	0	0	6185	971	34	4	317	4	FZD5	2	208632020	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	22830465	208632020	34567353	8	51075											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	623	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	481092	209113112	34086261	9	51076											
TMEM40	55287	broad.mit.edu	37	chr3	12779642	12779642	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtgtatttaccacttgcTgggtcagagcctctccttcg	5	15	9	12	1	2	1	1	0	1	1	4	1	2	1	3	1	3	2	3	1	2	6			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:12779642T>G	ENST00000314124.7	-	7	773	c.417A>C	c.(415-417)ccA>ccC	p.P139P	TMEM40_ENST00000476331.1_5'UTR|TMEM40_ENST00000435218.2_Silent_p.P109P|TMEM40_ENST00000435575.1_Silent_p.P63P|TMEM40_ENST00000431022.2_Silent_p.P155P|TMEM40_ENST00000264728.8_Silent_p.P139P	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	139						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TACCACTTGCTGGGTCAGAGC	0.557													G	12779642	T	G	12779642	2	3	623	1	0	0	0	0	0	0	0	1	16263	1567	55	5		5	TMEM40	3	12779642	Silent	SNP	T	TCGA-HW-8321-01A-11D-2395-08		12779642	185242788	10	51077											
CMTM7	112616	broad.mit.edu	37	chr3	32483476	32483476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttccgcttctaccgcGtgctcacctgtatcagctgg	5	12	8	16	3	4	0	2	0	2	0	5	0	5	0	4	1	3	4	4	1	2	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:32483476G>A	ENST00000334983.5	+	2	540	c.304G>A	c.(304-306)Gtg>Atg	p.V102M	CMTM7_ENST00000349718.4_Missense_Mutation_p.V102M	NM_138410.2	NP_612419.1	Q96FZ5	CKLF7_HUMAN	CKLF-like MARVEL transmembrane domain containing 7	102	MARVEL.				chemotaxis	extracellular space|integral to membrane	cytokine activity			endometrium(1)|large_intestine(1)|lung(2)	4						CTTCTACCGCGTGCTCACCTG	0.537													A	32483476	G	A	32483476	3	1	623	1	0	0	0	0	1	0	0	0	3619	1145	40	1	310	1	CMTM7	3	32483476	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19703834	32483476	165538954	11	51078											
DAG1	1605	broad.mit.edu	37	chr3	49569023	49569023	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggctcctccagtcagggAtcctgttcctgggaaaccca	8	9	10	14	0	1	0	1	0	0	0	5	2	5	2	5	3	1	2	5	3	1	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49569023A>G	ENST00000545947.1	+	6	1801	c.1079A>G	c.(1078-1080)gAt>gGt	p.D360G	DAG1_ENST00000515359.2_Missense_Mutation_p.D360G|DAG1_ENST00000538711.1_Missense_Mutation_p.D360G|DAG1_ENST00000308775.2_Missense_Mutation_p.D360G|DAG1_ENST00000541308.1_Missense_Mutation_p.D360G|DAG1_ENST00000539901.1_Missense_Mutation_p.D360G	NM_001177634.2	NP_001171105	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	360	Mucin-like domain.|Required for laminin recognition.|Thr-rich.				cytoskeletal anchoring at plasma membrane|interspecies interaction between organisms|microtubule anchoring|negative regulation of cell migration|negative regulation of MAPKKK cascade|negative regulation of protein kinase B signaling cascade	basement membrane|contractile ring|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|extracellular space|filopodium|integral to membrane|integral to membrane of membrane fraction|lamellipodium|nucleoplasm	actin binding|alpha-actinin binding|calcium ion binding|laminin-1 binding|receptor activity|structural constituent of muscle|tubulin binding|vinculin binding			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		CCAGTCAGGGATCCTGTTCCT	0.602													G	49569023	A	G	49569023	3	3	623	1	0	0	0	0	1	0	0	0	4259	333	12	3	1085	3	DAG1	3	49569023	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	17085547	49569023	148453407	12	51079											
CDHR4	389118	broad.mit.edu	37	chr3	49836253	49836253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccaccgtcccatgttctggGcttacctgcgctccgtggag	4	10	11	16	3	1	0	0	0	1	0	3	1	3	1	5	2	2	3	5	2	1	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:49836253G>A	ENST00000343366.4	-	3	599	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S	CDHR4_ENST00000487256.1_Silent_p.S167S|CDHR4_ENST00000412678.2_Intron			A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	0					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						CATGTTCTGGGCTTACCTGCG	0.597													A	49836253	G	A	49836253	3	1	623	1	0	0	0	0	1	0	0	0	3151	1218	42	2		2	CDHR4	3	49836253	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	267230	49836253	148186177	13	51080											
ARMC8	25852	broad.mit.edu	37	chr3	137982663	137982663	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcggttagctgccgtcaGgtatgagctttaaatggtct	7	13	14	7	2	2	1	1	1	1	0	2	1	2	1	1	4	4	4	1	4	4	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:137982663G>C	ENST00000469044.1	+	13	1488	c.1217G>C	c.(1216-1218)aGa>aCa	p.R406T	ARMC8_ENST00000485396.1_Splice_Site_p.R333T|ARMC8_ENST00000491704.1_Splice_Site_p.R364T|NME9_ENST00000484930.1_Intron|NME9_ENST00000383180.2_Intron|ARMC8_ENST00000481646.1_Splice_Site_p.R392T|NME9_ENST00000536478.1_Intron|NME9_ENST00000341790.5_Intron|NME9_ENST00000317876.4_Intron|ARMC8_ENST00000393058.3_Splice_Site_p.R396T|ARMC8_ENST00000461822.1_Splice_Site_p.R339T|ARMC8_ENST00000538260.1_Splice_Site_p.R375T	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	406							binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GCTGCCGTCAGGTATGAGCTT	0.398													C	137982663	G	C	137982663	5	2	623	1	0	0	0	0	0	0	1	0	962	1014	35	4	1291	4	ARMC8	3	137982663	Splice_Site	SNP	G	TCGA-HW-8321-01A-11D-2395-08	88146410	137982663	60039767	14	51081											
AP2M1	1173	broad.mit.edu	37	chr3	183898930	183898930	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatgaagagctacctgagtgGcatgcctgaatgcaagtttg	11	10	13	7	0	0	4	0	3	0	1	0	5	0	4	2	1	4	4	2	1	4	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr3:183898930G>C	ENST00000382456.3	+	6	931	c.617G>C	c.(616-618)gGc>gCc	p.G206A	AP2M1_ENST00000461733.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|AP2M1_ENST00000439647.1_Missense_Mutation_p.G206A|AP2M1_ENST00000292807.5_Missense_Mutation_p.G208A|AP2M1_ENST00000411763.2_Missense_Mutation_p.G233A	NM_001025205.1	NP_001020376.1	Q96CW1	AP2M1_HUMAN	adaptor-related protein complex 2, mu 1 subunit	208	MHD.				axon guidance|cellular membrane organization|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|vesicle-mediated transport|viral reproduction	clathrin adaptor complex|clathrin coat of coated pit|cytosol|endocytic vesicle membrane|peroxisomal membrane	lipid binding|protein binding|transporter activity			endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	18	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.92e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			TACCTGAGTGGCATGCCTGAA	0.537													C	183898930	G	C	183898930	3	2	623	1	0	0	0	0	1	0	0	0	744	1203	42	4	642	4	AP2M1	3	183898930	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	45916267	183898930	14123500	15	51082											
FGFR4	2264	broad.mit.edu	37	chr5	176517585	176517585	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagcttcctacctgaggatGctggccgctacctctgcctg	5	10	10	16	1	1	1	0	1	1	0	2	2	2	2	6	2	5	3	6	2	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr5:176517585G>T	ENST00000292408.4	+	3	531	c.286G>T	c.(286-288)Gct>Tct	p.A96S	FGFR4_ENST00000292410.3_Missense_Mutation_p.A96S|FGFR4_ENST00000502906.1_Missense_Mutation_p.A96S|FGFR4_ENST00000393648.2_Missense_Mutation_p.A96S|FGFR4_ENST00000393637.1_Missense_Mutation_p.A96S	NM_002011.3|NM_213647.1	NP_002002.3|NP_998812.1	P22455	FGFR4_HUMAN	fibroblast growth factor receptor 4	96	Ig-like C2-type 1.				insulin receptor signaling pathway|positive regulation of cell proliferation	integral to plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	34	all_cancers(89;5.93e-05)|Renal(175;0.000269)|Lung NSC(126;0.0088)|all_lung(126;0.0142)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Palifermin(DB00039)	ACCTGAGGATGCTGGCCGCTA	0.607										TSP Lung(9;0.080)			T	176517585	G	T	176517585	3	4	623	1	0	0	0	0	1	0	0	0	5917	1319	46	4	292	4	FGFR4	5	176517585	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		176517585	4397675	16	51083											
TRIM15	89870	broad.mit.edu	37	chr6	30134981	30134981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtcgactggaagctcTgagcacggagagagatgaga	13	5	16	7	2	1	4	0	2	1	3	2	10	1	6	0	3	2	2	0	3	1	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:30134981T>C	ENST00000376694.4	+	2	879	c.410T>C	c.(409-411)cTg>cCg	p.L137P	TRIM15_ENST00000376688.1_Intron	NM_033229.2	NP_150232.2	Q9C019	TRI15_HUMAN	tripartite motif containing 15	137					mesodermal cell fate determination	intracellular	zinc ion binding			large_intestine(2)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	14						CTGGAAGCTCTGAGCACGGAG	0.453													C	30134981	T	C	30134981	3	2	623	1	0	0	0	0	1	0	0	0	16591	1580	55	3	416	3	TRIM15	6	30134981	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08		30134981	140980086	17	51084											
TNXB	7148	broad.mit.edu	37	chr6	32018082	32018082	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgcttgggtggtctcGgcttcatcctttggagctgg	3	13	15	10	1	2	0	1	0	1	0	4	1	3	1	1	6	2	4	1	6	0	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:32018082G>A	ENST00000375244.3	-	27	9333	c.9132C>T	c.(9130-9132)gcC>gcT	p.A3044A	TNXB_ENST00000375247.2_Silent_p.A3042A			P22105	TENX_HUMAN	tenascin XB	3089	Fibronectin type-III 22.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGGTGGTCTCGGCTTCATCCT	0.597													A	32018082	G	A	32018082	2	1	623	1	0	0	0	0	0	0	0	1	16446	1103	39	1		1	TNXB	6	32018082	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08	1883101	32018082	139096985	18	51085											
GPR63	81491	broad.mit.edu	37	chr6	97246405	97246405	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactaggacgtatccgtcgCtttgtgtgaccagggagctg	7	10	14	10	3	0	1	0	1	0	0	2	3	1	3	2	2	1	4	2	2	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr6:97246405C>T	ENST00000229955.3	-	2	1548	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K	GPR63_ENST00000417980.1_Silent_p.K401K	NM_001143957.2|NM_030784.3	NP_001137429.1|NP_110411.1	Q9BZJ6	GPR63_HUMAN	G protein-coupled receptor 63	401						integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding			kidney(1)|large_intestine(5)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(76;6.89e-05)|Acute lymphoblastic leukemia(125;7.02e-10)|all_hematologic(75;1.23e-06)|all_epithelial(107;0.0618)|Colorectal(196;0.0721)		BRCA - Breast invasive adenocarcinoma(108;0.0912)		GTATCCGTCGCTTTGTGTGAC	0.478													T	97246405	C	T	97246405	2	4	623	1	0	0	0	0	0	0	0	1	6758	796	28	2		2	GPR63	6	97246405	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08	65228323	97246405	73868662	19	51086											
ELN	2006	broad.mit.edu	37	chr7	73471779	73471779	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcagtcccaggtgtgccGggcacgggaggagtgccagg	6	4	20	11	3	0	0	0	0	0	0	1	2	1	2	3	6	2	2	3	6	0	0			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:73471779G>A	ENST00000358929.4	+	22	1516	c.1425G>A	c.(1423-1425)ccG>ccA	p.P475P	ELN_ENST00000445912.1_Intron|ELN_ENST00000380553.4_Intron|ELN_ENST00000380575.4_Intron|ELN_ENST00000380562.4_Intron|ELN_ENST00000380576.5_Intron|ELN_ENST00000320399.6_Intron|ELN_ENST00000320492.7_Intron|ELN_ENST00000458204.1_Intron|ELN_ENST00000252034.7_Intron|ELN_ENST00000357036.5_Intron|ELN_ENST00000380584.4_Intron|ELN_ENST00000429192.1_Intron|ELN_ENST00000414324.1_Intron	NM_001278939.1	NP_001265868.1	P15502	ELN_HUMAN	elastin	475	Ala-rich.				blood circulation|cell proliferation|organ morphogenesis|respiratory gaseous exchange	proteinaceous extracellular matrix	extracellular matrix constituent conferring elasticity|protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(4)|pancreas(2)|prostate(1)|skin(2)|stomach(1)	32		Lung NSC(55;0.159)			Rofecoxib(DB00533)	CAGGTGTGCCGGGCACGGGAG	0.637			T	PAX5	B-ALL		"Supravalvular Aortic Stenosis, Cutis laxa , Williams-Beuren Syndrome"						A	73471779	G	A	73471779	2	1	623	1	0	0	0	0	0	0	0	1	5112	1131	39	1		1	ELN	7	73471779	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08		73471779	85666884	20	51087											
ZNF804B	219578	broad.mit.edu	37	chr7	88964578	88964578	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acggaaatgtctaaagcacaActgcttctacttgtctgatg	12	12	8	9	1	3	1	0	1	3	0	3	2	3	2	0	1	4	2	0	1	5	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:88964578A>C	ENST00000333190.4	+	4	2891	c.2282A>C	c.(2281-2283)aAc>aCc	p.N761T		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	761						intracellular	zinc ion binding			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTAAAGCACAACTGCTTCTAC	0.383										HNSCC(36;0.09)			C	88964578	A	C	88964578	3	2	623	1	0	0	0	0	1	0	0	0	18270	43	2	5	2296	5	ZNF804B	7	88964578	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	15492799	88964578	70174085	21	51088											
BAIAP2L1	55971	broad.mit.edu	37	chr7	97941545	97941545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caacacaggtctcctgccacCgaggcagcttggaattcagt	10	8	10	13	1	2	0	1	0	1	0	3	2	2	1	3	3	3	2	3	3	2	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr7:97941545C>T	ENST00000005260.8	-	8	886	c.671G>A	c.(670-672)cGg>cAg	p.R224Q	BAIAP2L1_ENST00000462558.1_5'UTR	NM_018842.4	NP_061330.2	Q9UHR4	BI2L1_HUMAN	BAI1-associated protein 2-like 1	224	IMD.				filopodium assembly|positive regulation of actin cytoskeleton reorganization|positive regulation of actin filament polymerization|response to bacterium|signal transduction	cell junction|cytoskeleton|cytosol|nucleus	actin binding|cytoskeletal adaptor activity|proline-rich region binding|SH3 domain binding			NS(1)|breast(1)|cervix(1)|endometrium(3)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)	23	all_cancers(62;4.34e-10)|all_epithelial(64;5e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0113)|all_lung(186;0.0126)		STAD - Stomach adenocarcinoma(171;0.215)			CTCCTGCCACCGAGGCAGCTT	0.448													T	97941545	C	T	97941545	3	4	623	1	0	0	0	0	1	0	0	0	1307	652	23	1	892	1	BAIAP2L1	7	97941545	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	8976967	97941545	61197118	22	51089											
MYO3A	53904	broad.mit.edu	37	chr10	26285470	26285470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgaaaggatttctgaagaggGgtgaaagaatgagtgagcct	14	9	15	3	0	1	7	0	5	1	2	1	8	1	8	1	3	1	0	1	3	4	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr10:26285470G>A	ENST00000265944.5	+	5	521	c.355G>A	c.(355-357)Ggt>Agt	p.G119S	MYO3A_ENST00000543632.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376302.1_Missense_Mutation_p.G119S|MYO3A_ENST00000376301.1_Missense_Mutation_p.G119S	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	119	Protein kinase.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TCTGAAGAGGGGTGAAAGAAT	0.353													A	26285470	G	A	26285470	3	1	623	1	0	0	0	0	1	0	0	0	10152	1232	43	2	365	2	MYO3A	10	26285470	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		26285470	109249277	23	51090											
CABP4	57010	broad.mit.edu	37	chr11	67222946	67222946	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatctggccattggcCgtcagaagccccctgcgggg	7	6	13	15	2	2	1	1	0	1	1	2	1	2	1	5	4	2	0	5	4	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr11:67222946C>T	ENST00000325656.5	+	1	129	c.52C>T	c.(52-54)Cgt>Tgt	p.R18C	CABP4_ENST00000438189.2_Intron|CABP4_ENST00000542025.2_3'UTR	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	18					visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			GGCCATTGGCCGTCAGAAGCC	0.642													T	67222946	C	T	67222946	3	4	623	1	0	0	0	0	1	0	0	0	2559	652	23	1	54	1	CABP4	11	67222946	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		67222946	67783570	24	51091											
DPPA3	359787	broad.mit.edu	37	chr12	7867804	7867804	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcaaatctcctccgagacGttgataaagaaccttagtaa	14	11	6	10	2	2	3	1	1	2	2	5	4	3	3	3	0	1	2	3	0	6	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:7867804G>A	ENST00000345088.2	+	2	225	c.108G>A	c.(106-108)acG>acA	p.T36T		NM_199286.2	NP_954980.1	Q6W0C5	DPPA3_HUMAN	developmental pluripotency associated 3	36						cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(2)	8				Kidney(36;0.0887)		CCTCCGAGACGTTGATAAAGA	0.453													A	7867804	G	A	7867804	2	1	623	1	0	0	0	0	0	0	0	1	4774	1132	40	1		1	DPPA3	12	7867804	Silent	SNP	G	TCGA-HW-8321-01A-11D-2395-08		7867804	125984091	25	51092											
FMNL3	91010	broad.mit.edu	37	chr12	50044648	50044648	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaataattcttcaaacttaTcaagatccaggtcctggcag	13	12	7	9	0	3	2	2	1	1	1	5	2	5	2	2	2	1	1	2	2	5	4			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:50044648T>A	ENST00000335154.5	-	17	2044	c.1811A>T	c.(1810-1812)gAt>gTt	p.D604V	FMNL3_ENST00000550488.1_Missense_Mutation_p.D604V|FMNL3_ENST00000293590.5_Missense_Mutation_p.D604V|FMNL3_ENST00000352151.5_Missense_Mutation_p.D553V	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	604	FH2.				actin cytoskeleton organization		actin binding|Rho GTPase binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						TTCAAACTTATCAAGATCCAG	0.512													A	50044648	T	A	50044648	3	1	623	1	0	0	0	0	1	0	0	0	6002	1435	50	5	1312	5	FMNL3	12	50044648	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	42176844	50044648	83807247	26	51093											
SOAT2	8435	broad.mit.edu	37	chr12	53517583	53517583	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgatgtggaccatgctgTttctaggccagggaatccag	8	11	13	9	0	1	1	0	1	1	0	2	3	2	3	3	3	2	3	3	3	2	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:53517583T>A	ENST00000301466.3	+	14	1504	c.1444T>A	c.(1444-1446)Ttt>Att	p.F482I		NM_003578.3	NP_003569.1	O75908	SOAT2_HUMAN	sterol O-acyltransferase 2	482					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|macrophage derived foam cell differentiation|very-low-density lipoprotein particle assembly	brush border|endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			endometrium(5)|kidney(3)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	18						GACCATGCTGTTTCTAGGCCA	0.577													A	53517583	T	A	53517583	3	1	623	1	0	0	0	0	1	0	0	0	15005	1725	60	5	1498	5	SOAT2	12	53517583	Missense_Mutation	SNP	T	TCGA-HW-8321-01A-11D-2395-08	3472935	53517583	80334312	27	51094											
TRHDE	29953	broad.mit.edu	37	chr12	73012760	73012760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccttggcatgctgccagccGagctctttatcctctagata	7	13	8	13	1	2	1	0	0	2	1	4	2	4	1	4	1	4	3	4	1	3	5			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr12:73012760G>A	ENST00000261180.4	+	13	2372	c.2276G>A	c.(2275-2277)cGa>cAa	p.R759Q		NM_013381.2	NP_037513.1	Q9UKU6	TRHDE_HUMAN	thyrotropin-releasing hormone degrading enzyme	759					cell-cell signaling|proteolysis|signal transduction	integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(38)|ovary(2)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	79						GCTGCCAGCCGAGCTCTTTAT	0.368													A	73012760	G	A	73012760	3	1	623	1	0	0	0	0	1	0	0	0	16580	1058	37	1	2326	1	TRHDE	12	73012760	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08	19495177	73012760	60839135	28	51095											
USP12	219333	broad.mit.edu	37	chr13	27680004	27680004	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctaggttgactcttataCgcaagaactttttcccgaaa	11	14	6	10	2	1	2	0	1	1	1	3	3	3	2	2	1	2	2	2	1	6	7	rs142426104		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr13:27680004C>T	ENST00000282344.6	-	3	463	c.207G>A	c.(205-207)gcG>gcA	p.A69A		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	69					protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		GACTCTTATACGCAAGAACTT	0.393													T	27680004	C	T	27680004	2	4	623	1	0	0	0	0	0	0	0	1	17145	523	19	1		1	USP12	13	27680004	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		27680004	87489874	29	51096											
ACOT4	122970	broad.mit.edu	37	chr14	74062179	74062179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgggactgggcattacatcGagcctccttacttccccctg	6	11	9	15	1	0	0	0	0	0	0	3	2	2	1	4	2	3	1	4	2	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr14:74062179G>A	ENST00000326303.4	+	3	1341	c.1087G>A	c.(1087-1089)Gag>Aag	p.E363K		NM_152331.3	NP_689544.3	Q8N9L9	ACOT4_HUMAN	acyl-CoA thioesterase 4	363					acyl-CoA metabolic process|dicarboxylic acid metabolic process|long-chain fatty acid metabolic process|saturated monocarboxylic acid metabolic process|short-chain fatty acid metabolic process|succinyl-CoA metabolic process|unsaturated monocarboxylic acid metabolic process|very long-chain fatty acid metabolic process	peroxisome	carboxylesterase activity|palmitoyl-CoA hydrolase activity			endometrium(1)|large_intestine(3)|lung(4)	8				BRCA - Breast invasive adenocarcinoma(234;0.00331)		GCATTACATCGAGCCTCCTTA	0.517													A	74062179	G	A	74062179	3	1	623	1	0	0	0	0	1	0	0	0	153	1059	37	1	1097	1	ACOT4	14	74062179	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		74062179	33287361	30	51097											
THSD4	79875	broad.mit.edu	37	chr15	71535120	71535120	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctcatcccgccattcCaggtcccagggagcatcttc	8	9	8	16	1	2	0	1	0	2	0	7	1	5	1	4	2	2	2	4	2	1	2			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr15:71535120C>T	ENST00000355327.3	+	5	731	c.597C>T	c.(595-597)tcC>tcT	p.S199S	THSD4_ENST00000261862.6_Silent_p.S199S			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	199	TSP type-1 1.					proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCGCCATTCCAGGTCCCAGG	0.567													T	71535120	C	T	71535120	2	4	623	1	0	0	0	0	0	0	0	1	15978	581	21	2		2	THSD4	15	71535120	Silent	SNP	C	TCGA-HW-8321-01A-11D-2395-08		71535120	30996272	31	51098											
WDR81	124997	broad.mit.edu	37	chr17	1639495	1639495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctggccagcccacgaggggGacattctgcagatcaaggtg	9	6	15	11	1	2	1	1	0	1	1	2	3	2	2	2	4	2	2	2	4	1	1	rs145853218		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:1639495G>A	ENST00000409644.1	+	9	5488	c.5488G>A	c.(5488-5490)Gac>Aac	p.D1830N	WDR81_ENST00000419248.1_Missense_Mutation_p.D603N|WDR81_ENST00000545662.1_Missense_Mutation_p.D461N|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000437219.2_Missense_Mutation_p.D627N|WDR81_ENST00000309182.5_Missense_Mutation_p.D779N|WDR81_ENST00000446363.1_Missense_Mutation_p.D469N	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	603										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCACGAGGGGGACATTCTGCA	0.677													A	1639495	G	A	1639495	3	1	623	1	0	0	0	0	1	0	0	0	17432	1174	41	2	5584	2	WDR81	17	1639495	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		1639495	79555715	32	51099											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	623	1	0	0	0	0	1	0	0	0	16482	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	5938053	7577548	73617662	33	51100											
USP43	124739	broad.mit.edu	37	chr17	9631874	9631874	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctctggaaacagcaaagAcagtcgccgaggcacctctg	12	7	10	12	2	2	1	0	0	2	1	4	3	2	2	2	2	2	2	2	2	2	1			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:9631874A>T	ENST00000285199.7	+	15	3035	c.2939A>T	c.(2938-2940)gAc>gTc	p.D980V	USP43_ENST00000570475.1_Missense_Mutation_p.D975V|USP43_ENST00000570827.2_3'UTR	NM_001267576.1|NM_153210.4	NP_001254505.1|NP_694942.3	Q70EL4	UBP43_HUMAN	ubiquitin specific peptidase 43						ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	26						AACAGCAAAGACAGTCGCCGA	0.572													T	9631874	A	T	9631874	3	4	623	1	0	0	0	0	1	0	0	0	17176	275	10	5	2997	5	USP43	17	9631874	Missense_Mutation	SNP	A	TCGA-HW-8321-01A-11D-2395-08	2054326	9631874	71563336	34	51101											
DBF4B	80174	broad.mit.edu	37	chr17	42828250	42828250	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggacattcctgttaagggcCcactcctcttccctgaagcc	7	10	8	16	1	1	1	0	1	1	0	4	2	4	2	5	2	1	1	5	2	2	3			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr17:42828250C>G	ENST00000315005.3	+	14	1615	c.1477C>G	c.(1477-1479)Cca>Gca	p.P493A	DBF4B_ENST00000393547.2_Intron	NM_145663.2	NP_663696.1	Q8NFT6	DBF4B_HUMAN	DBF4 homolog B (S. cerevisiae)	493					cell cycle	nucleus	nucleic acid binding|zinc ion binding			kidney(1)|large_intestine(1)|lung(5)	7		Prostate(33;0.0322)				TGTTAAGGGCCCACTCCTCTT	0.592													G	42828250	C	G	42828250	3	3	623	1	0	0	0	0	1	0	0	0	4283	623	22	4	1576	4	DBF4B	17	42828250	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08	33196376	42828250	38366960	35	51102											
ZNF334	55713	broad.mit.edu	37	chr20	45131229	45131229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgatgtacaatgagggtaGatctcttagaaaaggttttc	12	14	10	5	0	2	4	0	2	2	2	4	4	2	4	0	2	1	3	0	2	6	5			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chr20:45131229G>A	ENST00000457685.2	-	6	1958	c.635C>T	c.(634-636)tCt>tTt	p.S212F	ZNF334_ENST00000347606.4_Missense_Mutation_p.S250F|ZNF334_ENST00000593880.1_Missense_Mutation_p.S273F			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	250					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				AATGAGGGTAGATCTCTTAGA	0.398													A	45131229	G	A	45131229	3	1	623	1	0	0	0	0	1	0	0	0	17952	942	33	2	1297	2	ZNF334	20	45131229	Missense_Mutation	SNP	G	TCGA-HW-8321-01A-11D-2395-08		45131229	17894291	36	51103											
MED14	9282	broad.mit.edu	37	chrX	40534573	40534573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcatttacagaccttcttCgagcatcctgattgctgtca	8	14	6	13	1	3	2	2	1	1	1	5	3	4	2	3	0	3	2	3	0	1	5			TCGA-HW-8321-01A-11D-2395-08	TCGA-HW-8321-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e6d82338-1b8a-4120-9ce1-f50906ed4540	1b40ef43-8209-45a5-9a71-467c400c19e0	g.chrX:40534573C>T	ENST00000324817.1	-	22	3039	c.2921G>A	c.(2920-2922)cGa>cAa	p.R974Q	MED14_ENST00000496531.2_5'UTR	NM_004229.3	NP_004220.2	O60244	MED14_HUMAN	mediator complex subunit 14	974					androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(2)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(7)|lung(8)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						AGACCTTCTTCGAGCATCCTG	0.383													T	40534573	C	T	40534573	3	4	623	1	0	0	0	0	1	0	0	0	9507	884	31	1	1483	1	MED14	23	40534573	Missense_Mutation	SNP	C	TCGA-HW-8321-01A-11D-2395-08		40534573	114735987	37	51104											
TAS1R3	83756	broad.mit.edu	37	chr1	1267913	1267913	+	Frame_Shift_Del	DEL	C	C	-																															ggtgcccagctgcacgagttCccccagtacgtgaagacgca																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:1267913delC	ENST00000339381.5	+	3	1034	c.1002delC	c.(1000-1002)ttcfs	p.F334fs		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	334					detection of chemical stimulus involved in sensory perception of sweet taste|sensory perception of umami taste	plasma membrane	protein heterodimerization activity|taste receptor activity			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)	Aspartame(DB00168)	TGCACGAGTTCCCCCAGTACG	0.692													-	1267913	C	-	1267913	7	5	624	1	0	1	0	1	0	0	0	0	15661	854	30	0	1012	0	TAS1R3	1	1267913	Frame_Shift_Del	DEL	C	TCGA-HW-8322-01A-11D-2395-08		1267913	247982708	1	51105											
IPO13	9670	broad.mit.edu	37	chr1	44423086	44423086	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccccagcacacagaggccCtcctctacggcttccaatcc	8	8	6	19	1	1	1	0	0	1	1	5	1	5	1	6	2	2	2	6	2	2	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:44423086C>A	ENST00000372343.3	+	7	2067	c.1405C>A	c.(1405-1407)Ctc>Atc	p.L469I	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	469					protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				CACAGAGGCCCTCCTCTACGG	0.572													A	44423086	C	A	44423086	3	1	624	1	0	0	0	0	1	0	0	0	7852	681	24	4	1431	4	IPO13	1	44423086	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	43155173	44423086	204827535	2	51106											
C8B	732	broad.mit.edu	37	chr1	57417781	57417781	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcgtgttcaggatgtaatgCggggagcatccacctgcata	9	10	12	10	2	1	0	1	0	0	0	3	2	2	2	2	3	3	4	2	3	2	3	rs34438223	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:57417781C>T	ENST00000543257.1	-	6	1016	c.450G>A	c.(448-450)ccG>ccA	p.P150P	C8B_ENST00000535057.1_Silent_p.P140P|C8B_ENST00000371237.4_Silent_p.P202P	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	202	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex		p.P202P(1)		breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						GGATGTAATGCGGGGAGCATC	0.507													T	57417781	C	T	57417781	2	4	624	1	0	0	0	0	0	0	0	1	2441	755	27	1		1	C8B	1	57417781	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08	12994695	57417781	191832840	3	51107											
KCNT2	343450	broad.mit.edu	37	chr1	196250118	196250118	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcatctgcagtgattttcaTctataacacacacaaattat	14	14	4	9	0	4	1	2	1	2	0	4	1	4	1	0	0	2	1	0	0	4	5			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:196250118T>C	ENST00000367433.5	-	24	2811	c.2710A>G	c.(2710-2712)Atg>Gtg	p.M904V	KCNT2_ENST00000609185.1_Splice_Site_p.M854V|KCNT2_ENST00000294725.9_Splice_Site_p.M928V|KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Splice_Site_p.M854V	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	928						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GTGATTTTCATCTATAACACA	0.348													C	196250118	T	C	196250118	5	2	624	1	0	0	0	0	0	0	1	0	8150	1449	50	3	641	3	KCNT2	1	196250118	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08	138832337	196250118	53000503	4	51108											
C1orf186	440712	broad.mit.edu	37	chr1	206243208	206243208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagcaggcctgcaggaagagGgacaccaccgcgatcactaa	14	3	12	12	2	1	1	1	0	0	1	1	4	1	3	3	3	2	2	3	3	3	1			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:206243208G>A	ENST00000331555.5	-	3	692	c.54C>T	c.(52-54)tcC>tcT	p.S18S		NM_001007544.1	NP_001007545.1	Q6ZWK4	CA186_HUMAN	chromosome 1 open reading frame 186	18						integral to membrane				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	9			BRCA - Breast invasive adenocarcinoma(75;0.0754)			GCAGGAAGAGGGACACCACCG	0.527													A	206243208	G	A	206243208	2	1	624	1	0	0	0	0	0	0	0	1	2040	1219	43	2		2	C1orf186	1	206243208	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	9993090	206243208	43007413	5	51109											
MIA3	375056	broad.mit.edu	37	chr1	222805521	222805521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctagagatgcaaccactgCatgaagataatttctcacga	14	9	7	11	1	1	3	1	1	1	2	2	5	1	3	2	0	3	2	2	0	4	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr1:222805521C>T	ENST00000344922.5	+	5	3209	c.3184C>T	c.(3184-3186)Cat>Tat	p.H1062Y	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000344441.6_Missense_Mutation_p.H1062Y	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1062					exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		GCAACCACTGCATGAAGATAA	0.498													T	222805521	C	T	222805521	3	4	624	1	0	0	0	0	1	0	0	0	9640	710	25	2	3202	2	MIA3	1	222805521	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	16562313	222805521	26445100	6	51110											
SPR	6697	broad.mit.edu	37	chr2	73114723	73114723	+	Frame_Shift_Del	DEL	G	G	-																															cgccagctggaggccgagctGggcgccgagcggtctggcct																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:73114723delG	ENST00000234454.5	+	1	235	c.162delG	c.(160-162)ctgfs	p.L54fs	SPR_ENST00000498749.1_3'UTR	NM_003124.4	NP_003115.1	P35270	SPRE_HUMAN	sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)	54					nitric oxide biosynthetic process|tetrahydrobiopterin biosynthetic process	cytoplasm	aldo-keto reductase (NADP) activity|NADP binding|sepiapterin reductase activity			lung(4)|ovary(2)	6						AGGCCGAGCTGGGCGCCGAGC	0.771													-	73114723	G	-	73114723	7	5	624	1	0	1	0	1	0	0	0	0	15187	1335	47	0	164	0	SPR	2	73114723	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08		73114723	170084650	7	51111											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	624	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	135998389	209113112	34086261	8	51112											
NEU2	4759	broad.mit.edu	37	chr2	233898908	233898909	+	Frame_Shift_Ins	INS	-	-	G																															cccttgtatgacgcgcagacINSggggaccctcttcctcttct																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr2:233898908_233898909insG	ENST00000233840.3	+	2	284_285	c.284_285insG	c.(283-288)acggggfs	p.TG95fs		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	95							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		GACGCGCAGACGGGGACCCTCT	0.619													G	233898909	-	G	233898908	7	5	624	1	0	1	1	0	0	0	0	0	10418	536	19	0	290	0	NEU2	2	233898908	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	24785796	233898908	9300465	9	51113											
ROBO1	6091	broad.mit.edu	37	chr3	78685111	78685111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccctgatggattgacaaaaCgcccatccttcagatttggg	10	10	10	11	1	1	3	1	2	0	1	2	4	2	4	3	2	1	0	3	2	2	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:78685111C>T	ENST00000436010.2	-	21	4065	c.3068G>A	c.(3067-3069)cGt>cAt	p.R1023H	ROBO1_ENST00000495273.1_Missense_Mutation_p.R1017H|ROBO1_ENST00000467549.1_Intron|ROBO1_ENST00000464233.1_Missense_Mutation_p.R1062H			Q9Y6N7	ROBO1_HUMAN	roundabout, axon guidance receptor, homolog 1 (Drosophila)	1062					activation of caspase activity|axon midline choice point recognition|cell migration involved in sprouting angiogenesis|chemorepulsion involved in postnatal olfactory bulb interneuron migration|homophilic cell adhesion|negative regulation of chemokine-mediated signaling pathway|negative regulation of mammary gland epithelial cell proliferation|negative regulation of negative chemotaxis|positive regulation of axonogenesis|Roundabout signaling pathway	cell surface|cytoplasm|integral to plasma membrane	axon guidance receptor activity|identical protein binding|LRR domain binding	p.R1039H(1)		breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(25)|urinary_tract(1)	44		Lung SC(41;0.0257)|Lung NSC(201;0.0439)		LUSC - Lung squamous cell carcinoma(21;0.008)|Epithelial(33;0.00999)|Lung(72;0.0177)|BRCA - Breast invasive adenocarcinoma(55;0.0274)		ATTGACAAAACGCCCATCCTT	0.473													T	78685111	C	T	78685111	3	4	624	1	0	0	0	0	1	0	0	0	13604	536	19	1	1806	1	ROBO1	3	78685111	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		78685111	119337319	10	51114											
ARL6	84100	broad.mit.edu	37	chr3	97487028	97487028	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgtgccttgggctagAtaatagtggcaaaacgacga	11	12	12	6	2	0	1	0	0	0	1	0	3	0	1	1	2	2	3	1	2	5	6			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr3:97487028A>G	ENST00000463745.1	+	2	554	c.77A>G	c.(76-78)gAt>gGt	p.D26G	ARL6_ENST00000335979.2_Missense_Mutation_p.D26G|ARL6_ENST00000394206.1_Missense_Mutation_p.D26G|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	26					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		CTTGGGCTAGATAATAGTGGC	0.338													G	97487028	A	G	97487028	3	3	624	1	0	0	0	0	1	0	0	0	946	333	12	3	79	3	ARL6	3	97487028	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	18801917	97487028	100535402	11	51115											
RAD17	5884	broad.mit.edu	37	chr5	68689027	68689027	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcggttgccctctcattTatcagaatatgaacgggata	11	12	8	10	2	2	2	2	1	1	1	4	3	2	3	2	2	2	1	2	2	5	5			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:68689027T>C	ENST00000509734.1	+	13	1946	c.1268T>C	c.(1267-1269)tTa>tCa	p.L423S	RAD17_ENST00000282891.6_Missense_Mutation_p.L326S|RAD17_ENST00000354868.5_Missense_Mutation_p.L412S|RAD17_ENST00000345306.6_Missense_Mutation_p.L412S|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000354312.3_Missense_Mutation_p.L412S|RAD17_ENST00000305138.4_Missense_Mutation_p.L412S|RAD17_ENST00000380774.3_Missense_Mutation_p.L423S|RAD17_ENST00000521422.1_Missense_Mutation_p.L247S|RAD17_ENST00000358030.2_Missense_Mutation_p.L247S|RAD17_ENST00000361732.2_Missense_Mutation_p.L412S			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	423					cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		CCCTCTCATTTATCAGAATAT	0.313								Other conserved DNA damage response genes					C	68689027	T	C	68689027	3	2	624	1	0	0	0	0	1	0	0	0	13067	1764	61	3	1323	3	RAD17	5	68689027	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		68689027	112226233	12	51116											
KCNN2	3781	broad.mit.edu	37	chr5	113698887	113698887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcggctcagcgactacgcgCtcatcttcggcatgttcggc	6	9	12	14	6	3	0	2	0	1	0	5	1	3	0	0	3	3	4	0	3	1	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr5:113698887C>T	ENST00000512097.3	+	2	1433	c.415C>T	c.(415-417)Ctc>Ttc	p.L139F	KCNN2_ENST00000507750.1_3'UTR|KCNN2_ENST00000264773.3_Missense_Mutation_p.L139F			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	139						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGACTACGCGCTCATCTTCGG	0.597													T	113698887	C	T	113698887	3	4	624	1	0	0	0	0	1	0	0	0	8137	797	28	2	417	2	KCNN2	5	113698887	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08	45009860	113698887	67216373	13	51117											
GPR6	2830	broad.mit.edu	37	chr6	110301179	110301179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtggtgctgggcactttCggcgccagctggctgccctt	2	11	15	13	2	0	0	0	0	0	0	1	0	0	0	2	4	3	5	2	4	0	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr6:110301179C>T	ENST00000414000.2	+	3	1148	c.909C>T	c.(907-909)ttC>ttT	p.F303F	GPR6_ENST00000275169.3_Silent_p.F288F			P46095	GPR6_HUMAN	G protein-coupled receptor 6	288						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		TGGGCACTTTCGGCGCCAGCT	0.657													T	110301179	C	T	110301179	2	4	624	1	0	0	0	0	0	0	0	1	6755	883	31	1		1	GPR6	6	110301179	Silent	SNP	C	TCGA-HW-8322-01A-11D-2395-08		110301179	60813888	14	51118											
TBRG4	9238	broad.mit.edu	37	chr7	45144244	45144244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacggaccgccggctctgaGctgccagcatcaccagcacc	8	4	11	18	3	2	1	1	1	1	0	2	2	2	2	5	2	4	5	5	2	0	0	rs146485929	byFrequency	TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:45144244G>A	ENST00000258770.3	-	4	921	c.800C>T	c.(799-801)gCt>gTt	p.A267V	TBRG4_ENST00000494076.1_Missense_Mutation_p.A267V|TBRG4_ENST00000395655.4_Intron|TBRG4_ENST00000361278.3_Intron	NM_004749.3	NP_004740.2	Q969Z0	TBRG4_HUMAN	transforming growth factor beta regulator 4	267					apoptosis|cell cycle arrest|cellular respiration|G1 phase of mitotic cell cycle|positive regulation of cell proliferation	mitochondrion	ATP binding|protein binding|protein kinase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(8)|skin(1)|stomach(2)	17						CCGGCTCTGAGCTGCCAGCAT	0.612													A	45144244	G	A	45144244	3	1	624	1	0	0	0	0	1	0	0	0	15749	971	34	2	1127	2	TBRG4	7	45144244	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		45144244	113994419	15	51119											
SERPINE1	5054	broad.mit.edu	37	chr7	100779018	100779018	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagagcctctccacgtcgcGcaggcgctgcagaaagtgaa	11	5	12	13	4	1	3	0	1	1	2	3	3	1	3	2	1	2	3	2	1	3	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr7:100779018G>A	ENST00000223095.4	+	7	1180	c.1023G>A	c.(1021-1023)gcG>gcA	p.A341A	SERPINE1_ENST00000445463.2_Silent_p.A326A	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	341					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	TCCACGTCGCGCAGGCGCTGC	0.587													A	100779018	G	A	100779018	2	1	624	1	0	0	0	0	0	0	0	1	14204	1074	38	1		1	SERPINE1	7	100779018	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	55634774	100779018	58359645	16	51120											
NOTCH1	4851	broad.mit.edu	37	chr9	139395301	139395301	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcggggtgaagccatcTgcagaggcagagacgggtgc	10	5	18	8	2	1	4	0	2	1	2	1	5	1	4	1	4	4	2	1	4	1	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139395301T>G	ENST00000277541.6	-	31	5714		c.e31-2			NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1						aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGAAGCCATCTGCAGAGGCAG	0.701			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			G	139395301	T	G	139395301	5	3	624	1	0	0	0	0	0	0	1	0	10623	1594	55	5	2046	5	NOTCH1	9	139395301	Splice_Site	SNP	T	TCGA-HW-8322-01A-11D-2395-08		139395301	1818130	17	51121											
NOTCH1	4851	broad.mit.edu	37	chr9	139399848	139399848	+	Frame_Shift_Del	DEL	G	G	-																															ctgtcacagtggccgtcactGaagtacttccagcactgcag																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr9:139399848delG	ENST00000277541.6	-	25	4575	c.4500delC	c.(4498-4500)ttcfs	p.F1500fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1500					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCGTCACTGAAGTACTTCC	0.617			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139399848	G	-	139399848	7	5	624	1	0	1	0	1	0	0	0	0	10623	1281	45	0	3207	0	NOTCH1	9	139399848	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	4547	139399848	1813583	18	51122											
BRAP	8315	broad.mit.edu	37	chr12	112110475	112110475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacacttacatcttcagatTtgagcacttcagctctttcc	9	15	4	13	0	5	2	3	1	2	1	6	2	6	2	1	0	3	2	1	0	1	5	rs150096881		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr12:112110475T>C	ENST00000419234.4	-	5	930	c.737A>G	c.(736-738)aAa>aGa	p.K246R	BRAP_ENST00000327551.6_Missense_Mutation_p.K216R|BRAP_ENST00000539060.1_Intron	NM_006768.3	NP_006759.3	Q7Z569	BRAP_HUMAN	BRCA1 associated protein	246					MAPKKK cascade|negative regulation of signal transduction|Ras protein signal transduction	cytoplasm|ubiquitin ligase complex	identical protein binding|nuclear localization sequence binding|nucleotide binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ATCTTCAGATTTGAGCACTTC	0.363													C	112110475	T	C	112110475	3	2	624	1	0	0	0	0	1	0	0	0	1506	1841	64	3	1073	3	BRAP	12	112110475	Missense_Mutation	SNP	T	TCGA-HW-8322-01A-11D-2395-08		112110475	21741420	19	51123											
REC8	9985	broad.mit.edu	37	chr14	24642224	24642224	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcggtgtgatccgcgtctAttctcaacaatgccagtacc	9	11	9	12	3	2	1	1	1	2	0	5	2	3	1	3	1	3	1	3	1	4	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:24642224A>G	ENST00000311457.3	+	4	841	c.242A>G	c.(241-243)tAt>tGt	p.Y81C	REC8_ENST00000559919.1_Missense_Mutation_p.Y81C			O95072	REC8_HUMAN	REC8 meiotic recombination protein	81					mitotic metaphase/anaphase transition|mitotic prometaphase|reciprocal meiotic recombination|sister chromatid cohesion	nucleoplasm				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	15				GBM - Glioblastoma multiforme(265;0.00839)		ATCCGCGTCTATTCTCAACAA	0.617													G	24642224	A	G	24642224	3	3	624	1	0	0	0	0	1	0	0	0	13287	449	16	3	252	3	REC8	14	24642224	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		24642224	82707316	20	51124											
EML5	161436	broad.mit.edu	37	chr14	89160703	89160703	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgtaattagtttatcAggcacataggggttcatctt	10	14	9	8	0	3	0	2	0	1	0	3	0	3	0	1	3	1	5	1	3	4	7			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:89160703A>T	ENST00000554922.1	-	17	2735	c.2487T>A	c.(2485-2487)ccT>ccA	p.P829P	EML5_ENST00000380664.5_Silent_p.P829P|EML5_ENST00000352093.5_Silent_p.P829P	NM_183387.2	NP_899243.1	Q05BV3	EMAL5_HUMAN	echinoderm microtubule associated protein like 5	829						cytoplasm|microtubule				breast(1)|endometrium(3)|kidney(4)|large_intestine(17)|lung(14)|ovary(3)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						TTAGTTTATCAGGCACATAGG	0.308													T	89160703	A	T	89160703	2	4	624	1	0	0	0	0	0	0	0	1	5141	175	7	5		5	EML5	14	89160703	Silent	SNP	A	TCGA-HW-8322-01A-11D-2395-08	64518479	89160703	18188837	21	51125											
ADSSL1	122622	broad.mit.edu	37	chr14	105209429	105209429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaggcctgctgcagacccGcggccacgagtggggagtga	7	5	18	11	3	0	2	0	1	0	1	0	5	0	4	3	5	2	2	3	5	0	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr14:105209429G>A	ENST00000332972.5	+	10	1262	c.1103G>A	c.(1102-1104)cGc>cAc	p.R368H	ADSSL1_ENST00000330877.2_Missense_Mutation_p.R325H	NM_199165.1	NP_954634.1	Q8N142	PURA1_HUMAN	adenylosuccinate synthase like 1	325					AMP biosynthetic process|immune system process|purine base metabolic process	cytosol	adenylosuccinate synthase activity|GTP binding|magnesium ion binding|phosphate binding			central_nervous_system(1)|cervix(1)|kidney(1)|lung(5)|ovary(2)|prostate(1)	11		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00153)|OV - Ovarian serous cystadenocarcinoma(23;0.0148)|Epithelial(46;0.0396)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.18)	L-Aspartic Acid(DB00128)	CTGCAGACCCGCGGCCACGAG	0.612													A	105209429	G	A	105209429	3	1	624	1	0	0	0	0	1	0	0	0	348	1087	38	1	1337	1	ADSSL1	14	105209429	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	16048726	105209429	2140111	22	51126											
MYH3	4621	broad.mit.edu	37	chr17	10536939	10536939	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagagccagctggatatcaGccttttccagctcaatctgc	9	10	9	13	1	3	1	2	0	1	1	4	3	4	2	3	1	5	2	3	1	2	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:10536939G>C	ENST00000583535.1	-	33	4703	c.4616C>G	c.(4615-4617)gCt>gGt	p.A1539G	MYH3_ENST00000226209.7_Missense_Mutation_p.A1539G	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	1539					muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CTGGATATCAGCCTTTTCCAG	0.527													C	10536939	G	C	10536939	3	2	624	1	0	0	0	0	1	0	0	0	10112	971	34	4	1242	4	MYH3	17	10536939	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		10536939	70658271	23	51127											
PIP4K2B	8396	broad.mit.edu	37	chr17	36936783	36936783	+	Frame_Shift_Del	DEL	G	G	-																															ttgatgacaaagcgccggtcGtaggtggtgaggaaacgcgt																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr17:36936783delG	ENST00000269554.3	-	4	909	c.429delC	c.(427-429)tacfs	p.Y143fs	PIP4K2B_ENST00000311500.6_5'UTR	NM_003559.4	NP_003550.1	P78356	PI42B_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, beta	143	PIPK.				cell surface receptor linked signaling pathway	endoplasmic reticulum membrane|plasma membrane	1-phosphatidylinositol-4-phosphate 5-kinase activity|1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|receptor signaling protein activity			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)	19						AGCGCCGGTCGTAGGTGGTGA	0.552													-	36936783	G	-	36936783	7	5	624	1	0	1	0	1	0	0	0	0	12014	1140	40	0	849	0	PIP4K2B	17	36936783	Frame_Shift_Del	DEL	G	TCGA-HW-8322-01A-11D-2395-08	26399844	36936783	44258427	24	51128											
SMARCA4	6597	broad.mit.edu	37	chr19	11143994	11143994	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcgcaggaccgagcccaccGcatcgggcagcagaacgagg	11	1	15	14	5	0	1	0	0	0	1	1	4	0	2	3	3	4	4	3	3	1	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:11143994G>A	ENST00000358026.2	+	26	3859	c.3575G>A	c.(3574-3576)cGc>cAc	p.R1192H	SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1192H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1192H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1192H|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1192H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1192	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGCCCACCGCATCGGGCAG	0.612			"F, N, Mis"		NSCLC								A	11143994	G	A	11143994	3	1	624	1	0	0	0	0	1	0	0	0	14864	1087	38	1	3673	1	SMARCA4	19	11143994	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08		11143994	47984989	25	51129											
GIPC1	10755	broad.mit.edu	37	chr19	14591417	14591417	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggcaccttgatgaaggcGtagccagccccgttgtccgt	7	8	12	14	3	0	2	0	2	0	0	1	2	1	2	6	2	2	3	6	2	2	3			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:14591417G>A	ENST00000393033.4	-	5	731	c.462C>T	c.(460-462)taC>taT	p.Y154Y	GIPC1_ENST00000345425.2_Silent_p.Y154Y|GIPC1_ENST00000586027.1_Silent_p.Y154Y|GIPC1_ENST00000393029.3_Silent_p.Y57Y|GIPC1_ENST00000591349.1_Silent_p.Y57Y|GIPC1_ENST00000393028.1_Silent_p.Y57Y	NM_005716.3	NP_005707.1	O14908	GIPC1_HUMAN	GIPC PDZ domain containing family, member 1	154	PDZ.				endothelial cell migration|G-protein coupled receptor protein signaling pathway|glutamate secretion|negative regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|protein targeting|regulation of protein stability|regulation of synaptic plasticity|synaptic transmission	cell cortex|dendritic shaft|dendritic spine|membrane fraction|soluble fraction|synaptic vesicle|vesicle membrane	actin binding|myosin binding|protein homodimerization activity|receptor binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TGATGAAGGCGTAGCCAGCCC	0.657											OREG0025316	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	14591417	G	A	14591417	2	1	624	1	0	0	0	0	0	0	0	1	6448	1140	40	1		1	GIPC1	19	14591417	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08	3447423	14591417	44537566	26	51130											
TFPT	29844	broad.mit.edu	37	chr19	54611508	54611508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctctggaggctcattctccGcattgcctggggtgggggca	4	11	15	11	1	3	0	1	0	2	0	5	1	3	1	2	6	1	3	2	6	0	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr19:54611508G>A	ENST00000391759.1	-	5	872	c.467C>T	c.(466-468)gCg>gTg	p.A156V	TFPT_ENST00000391757.1_Missense_Mutation_p.R144W|TFPT_ENST00000391758.1_Missense_Mutation_p.A147V|NDUFA3_ENST00000391764.3_Intron	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	156					apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding			large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					CTCATTCTCCGCATTGCCTGG	0.677			T	TCF3	pre-B ALL								A	54611508	G	A	54611508	3	1	624	1	0	0	0	0	1	0	0	0	15910	1087	38	1	302	1	TFPT	19	54611508	Missense_Mutation	SNP	G	TCGA-HW-8322-01A-11D-2395-08	40020091	54611508	4517475	27	51131											
HUNK	30811	broad.mit.edu	37	chr21	33371363	33371363	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgatgggcatcggacagAtgttaaggaagcgccatcag	12	8	13	8	2	1	2	1	1	0	1	2	4	1	4	1	3	1	2	1	3	3	2			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:33371363A>C	ENST00000270112.2	+	11	2371	c.2011A>C	c.(2011-2013)Atg>Ctg	p.M671L		NM_014586.1	NP_055401.1	P57058	HUNK_HUMAN	hormonally up-regulated Neu-associated kinase	671					multicellular organismal development|signal transduction		ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(2)|stomach(1)	30						CATCGGACAGATGTTAAGGAA	0.617													C	33371363	A	C	33371363	3	2	624	1	0	0	0	0	1	0	0	0	7516	333	12	5	2053	5	HUNK	21	33371363	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08		33371363	14758532	28	51132											
TTC3	7267	broad.mit.edu	37	chr21	38568034	38568035	+	Frame_Shift_Ins	INS	-	-	T																															ggccaagggcttgtgacttcINStgcaagcgacgtgactggaa																										TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr21:38568034_38568035insT	ENST00000399017.2	+	42	8023_8024	c.5276_5277insT	c.(5275-5280)tctgcafs	p.A1760fs	TTC3_ENST00000355666.1_Frame_Shift_Ins_p.A1760fs|TTC3_ENST00000479930.1_3'UTR|TTC3_ENST00000354749.2_Frame_Shift_Ins_p.A1760fs	NM_003316.3	NP_003307.3	P53804	TTC3_HUMAN	tetratricopeptide repeat domain 3	1760					protein K48-linked ubiquitination|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(5)|endometrium(7)|kidney(5)|large_intestine(17)|liver(1)|lung(18)|ovary(4)|prostate(2)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(5)	75		Myeloproliferative disorder(46;0.0412)				CTTGTGACTTCTGCAAGCGACG	0.569													T	38568035	-	T	38568034	7	5	624	1	0	1	1	0	0	0	0	0	16799	913	32	0	5438	0	TTC3	21	38568034	Frame_Shift_Ins	INS	-	TCGA-HW-8322-01A-11D-2395-08	5196671	38568034	9561861	29	51133											
BCR	613	broad.mit.edu	37	chr22	23523557	23523557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcccgcaggcccggggcagCcgcgtcgggggaacgggacg	5	1	20	15	8	0	0	0	0	0	0	1	2	0	2	3	6	2	2	3	6	1	0			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:23523557C>T	ENST00000305877.8	+	1	1161	c.410C>T	c.(409-411)gCc>gTc	p.A137V	BCR_ENST00000398512.5_Missense_Mutation_p.A137V|BCR_ENST00000359540.3_Missense_Mutation_p.A137V	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	137	Kinase.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCCGGGGCAGCCGCGTCGGGG	0.801			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								T	23523557	C	T	23523557	3	4	624	1	0	0	0	0	1	0	0	0	1393	739	26	2	412	2	BCR	22	23523557	Missense_Mutation	SNP	C	TCGA-HW-8322-01A-11D-2395-08		23523557	27781009	30	51134											
APOL1	8542	broad.mit.edu	37	chr22	36661324	36661324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaagagtttcctcggttgAaaagtgagcttgaggataac	13	11	12	5	1	0	5	0	4	0	1	2	6	1	6	1	2	2	3	1	2	4	4			TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chr22:36661324A>G	ENST00000319136.4	+	7	757	c.490A>G	c.(490-492)Aaa>Gaa	p.K164E	APOL1_ENST00000397279.4_Missense_Mutation_p.K148E|APOL1_ENST00000440669.2_3'UTR|APOL1_ENST00000426053.1_Missense_Mutation_p.K130E|APOL1_ENST00000347595.7_Missense_Mutation_p.K27E|APOL1_ENST00000397278.3_Missense_Mutation_p.K148E|APOL1_ENST00000422706.1_Missense_Mutation_p.K148E	NM_145343.2	NP_663318.1	O14791	APOL1_HUMAN	apolipoprotein L, 1	148					cholesterol metabolic process|cytolysis|innate immune response|killing of cells of other organism|lipid transport|lipoprotein metabolic process	high-density lipoprotein particle|very-low-density lipoprotein particle	chloride channel activity|lipid binding|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(2)|urinary_tract(2)	14						TCCTCGGTTGAAAAGTGAGCT	0.478													G	36661324	A	G	36661324	3	3	624	1	0	0	0	0	1	0	0	0	808	247	9	3	512	3	APOL1	22	36661324	Missense_Mutation	SNP	A	TCGA-HW-8322-01A-11D-2395-08	13137767	36661324	14643242	31	51135											
VCX3B	425054	broad.mit.edu	37	chrX	8434346	8434346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcaggagagccaggtggaGgaaccactgagtcaggagag	13	4	17	7	0	2	3	2	1	0	2	2	7	2	5	2	5	2	0	2	5	1	0	rs808146		TCGA-HW-8322-01A-11D-2395-08	TCGA-HW-8322-10A-01D-2396-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbb7361c-879c-4964-b6c8-07b5d8d4da46	088c5f2e-ee43-4263-9962-ef89954380a7	g.chrX:8434346G>A	ENST00000381032.1	+	3	970	c.663G>A	c.(661-663)gaG>gaA	p.E221E	VCX3B_ENST00000444481.1_Silent_p.E191E|VCX3B_ENST00000381029.4_Silent_p.E189E|VCX3B_ENST00000440654.2_Silent_p.E171E|VCX3B_ENST00000453306.1_Intron	NM_001001888.3	NP_001001888.3	Q9H321	VCX3B_HUMAN	variable charge, X-linked 3B	0						nucleolus				NS(1)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|urinary_tract(3)	11						GCCAGGTGGAGGAACCACTGA	0.557													A	8434346	G	A	8434346	2	1	624	1	0	0	0	0	0	0	0	1	17247	991	35	2		2	VCX3B	23	8434346	Silent	SNP	G	TCGA-HW-8322-01A-11D-2395-08		8434346	146836214	32	51136											
LRRC8B	23507	broad.mit.edu	37	chr1	90049110	90049110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcttttacaggatataagCgctaccagtgtgtctattcc	10	13	9	9	1	1	0	0	0	1	0	2	1	2	1	2	2	3	2	2	2	5	7			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:90049110C>T	ENST00000330947.2	+	5	1261	c.901C>T	c.(901-903)Cgc>Tgc	p.R301C	LRRC8B_ENST00000439853.1_Missense_Mutation_p.R301C|LRRC8B_ENST00000358200.4_Missense_Mutation_p.R301C|RP5-1007M22.2_ENST00000443562.1_RNA	NM_001134476.1	NP_001127948.1	Q6P9F7	LRC8B_HUMAN	leucine rich repeat containing 8 family, member B	301						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	26		all_lung(203;0.17)		all cancers(265;0.00515)|Epithelial(280;0.0241)		AGGATATAAGCGCTACCAGTG	0.383													T	90049110	C	T	90049110	3	4	625	1	0	0	0	0	1	0	0	0	9092	768	27	1	903	1	LRRC8B	1	90049110	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		90049110	159201511	1	51137											
PI4KB	5298	broad.mit.edu	37	chr1	151265460	151265461	+	Frame_Shift_Del	DEL	TT	TT	-																															atgctcatgtggaacctctcTttgaggtttcgaatggtgct																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:151265460_151265461delTT	ENST00000368875.2	-	13	2934_2935	c.2354_2355delAA	c.(2353-2355)aaafs	p.K785fs	PI4KB_ENST00000271657.5_Frame_Shift_Del_p.K785fs|PI4KB_ENST00000368874.4_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000368872.1_Frame_Shift_Del_p.K758fs|PI4KB_ENST00000529142.1_Frame_Shift_Del_p.K441fs|PI4KB_ENST00000368873.1_Frame_Shift_Del_p.K773fs	NM_002651.2	NP_002642.1	Q9UBF8	PI4KB_HUMAN	phosphatidylinositol 4-kinase, catalytic, beta	773					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|receptor-mediated endocytosis	endosome|Golgi apparatus|mitochondrial outer membrane|perinuclear region of cytoplasm|rough endoplasmic reticulum membrane	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(5)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	27	Lung SC(34;0.00471)|Ovarian(49;0.0147)|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)			GGAACCTCTCTTTGAGGTTTCG	0.564													-	151265461	TT	-	151265460	7	5	625	1	0	1	0	1	0	0	0	0	11951	1606	56	0	135	0	PI4KB	1	151265460	Frame_Shift_Del	DEL	TT	TCGA-HW-A5KJ-01A-12D-A27K-08	61216350	151265460	97985161	2	51138											
FLG	2312	broad.mit.edu	37	chr1	152281299	152281299	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcttgtccatgcccaatGcctgagtgtctggagctgtc	7	11	12	11	0	1	1	0	1	1	0	3	3	2	2	3	1	4	2	3	1	2	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:152281299G>A	ENST00000368799.1	-	3	6098	c.6063C>T	c.(6061-6063)ggC>ggT	p.G2021G	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2021	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CATGCCCAATGCCTGAGTGTC	0.547									Ichthyosis				A	152281299	G	A	152281299	2	1	625	1	0	0	0	0	0	0	0	1	5971	1306	46	2		2	FLG	1	152281299	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	1015839	152281299	96969322	3	51139											
NAV1	89796	broad.mit.edu	37	chr1	201752572	201752577	+	In_Frame_Del	DEL	CCAATC	CCAATC	-																															tgtcaaaccaccctcactagCcaatcttgacaaggtcaact																								rs150728227		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:201752572_201752577delCCAATC	ENST00000367296.4	+	7	2816_2821	c.2396_2401delCCAATC	c.(2395-2403)gccaatctt>gtt	p.799_801ANL>V	NAV1_ENST00000367297.4_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000367300.3_In_Frame_Del_p.799_801ANL>V|NAV1_ENST00000367302.1_In_Frame_Del_p.812_814ANL>V|NAV1_ENST00000367295.1_In_Frame_Del_p.408_410ANL>V|NAV1_ENST00000469130.1_3'UTR|IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_In_Frame_Del_p.799_801ANL>V	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	799					cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding			breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						CCCTCACTAGCCAATCTTGACAAGGT	0.456													-	201752577	CCAATC	-	201752572	7	5	625	1	0	1	0	1	0	0	0	0	10259	739	26	0	2479	0	NAV1	1	201752572	In_Frame_Del	DEL	CCAATC	TCGA-HW-A5KJ-01A-12D-A27K-08	49471273	201752572	47498049	4	51140											
OR14A16	284532	broad.mit.edu	37	chr1	247978839	247978840	+	Frame_Shift_Del	DEL	AT	AT	-																															aaggcagagatccaagaaagAtagattcttcaagaagaaat																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr1:247978839_247978840delAT	ENST00000357627.1	-	1	191_192	c.192_193delAT	c.(190-195)ctatctfs	p.S65fs		NM_001001966.1	NP_001001966.1	Q8NHC5	O14AG_HUMAN	olfactory receptor, family 14, subfamily A, member 16	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(32)|skin(2)|stomach(1)	45						TCCAAGAAAGATAGATTCTTCA	0.421													-	247978840	AT	-	247978839	7	5	625	1	0	1	0	1	0	0	0	0	11021	333	12	0	740	0	OR14A16	1	247978839	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	46226267	247978839	1271782	5	51141											
BRE	9577	broad.mit.edu	37	chr2	28550157	28550158	+	Frame_Shift_Del	DEL	AG	AG	-																															ccaggggatgccaagggagcAgagatgcctgcagcccgtgg																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:28550157_28550158delAG	ENST00000344773.2	+	12	1243_1244	c.1105_1106delAG	c.(1105-1107)agafs	p.R369fs	BRE_ENST00000379624.1_Intron|BRE_ENST00000361704.2_Intron|BRE_ENST00000379632.2_Intron|BRE_ENST00000342045.2_Intron	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	0					apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding	p.R369K(1)		NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CCAAGGGAGCAGAGATGCCTGC	0.609													-	28550158	AG	-	28550157	7	5	625	1	0	1	0	1	0	0	0	0	1518	180	7	0	1194	0	BRE	2	28550157	Frame_Shift_Del	DEL	AG	TCGA-HW-A5KJ-01A-12D-A27K-08		28550157	214649216	6	51142											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135920344	135920346	+	In_Frame_Del	DEL	AAG	AAG	-																															tcgaaaacatttcttcagttAagaagatcataaagcagata																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:135920344_135920346delAAG	ENST00000264158.8	+	21	2456_2458	c.2413_2415delAAG	c.(2413-2415)aagdel	p.K806del	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_In_Frame_Del_p.K762del|RAB3GAP1_ENST00000442034.1_In_Frame_Del_p.K806del|ZRANB3_ENST00000412849.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	806						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCTTCAGTTAAGAAGATCATAA	0.315													-	135920346	AAG	-	135920344	7	5	625	1	0	1	0	1	0	0	0	0	13023	363	13	0	2495	0	RAB3GAP1	2	135920344	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08	107370187	135920344	107279029	7	51143											
SCN2A	6326	broad.mit.edu	37	chr2	166245292	166245292	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgatgatgtcccttcctgCgttgtttaacatcggcctcc	5	16	8	12	2	0	2	0	2	0	0	4	2	3	2	4	1	2	2	4	1	1	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:166245292C>A	ENST00000357398.3	+	27	5266	c.4976C>A	c.(4975-4977)gCg>gAg	p.A1659E	SCN2A_ENST00000375437.2_Missense_Mutation_p.A1659E|SCN2A_ENST00000375427.2_Missense_Mutation_p.A1659E|SCN2A_ENST00000283256.6_Missense_Mutation_p.A1659E			Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	1659					myelination	node of Ranvier|voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)	TCCCTTCCTGCGTTGTTTAAC	0.493													A	166245292	C	A	166245292	3	1	625	1	0	0	0	0	1	0	0	0	14009	768	27	4	5174	4	SCN2A	2	166245292	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	30324948	166245292	76954081	8	51144											
SP3	6670	broad.mit.edu	37	chr2	174774916	174774917	+	Frame_Shift_Del	DEL	AT	AT	-																															ttttattctggtgtgttttaAtatgtttggcaaggtggtca																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr2:174774916_174774917delAT	ENST00000310015.6	-	7	2628_2629	c.2098_2099delAT	c.(2098-2100)attfs	p.I700fs	SP3_ENST00000455789.2_Frame_Shift_Del_p.I647fs|SP3_ENST00000418194.2_Frame_Shift_Del_p.I632fs	NM_001172712.1|NM_003111.4	NP_001166183.1|NP_003102.1	Q02447	SP3_HUMAN	Sp3 transcription factor	700					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	protein binding|zinc ion binding		EWSR1/SP3(3)	NS(2)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.185)			GTGTGTTTTAATATGTTTGGCA	0.376													-	174774917	AT	-	174774916	7	5	625	1	0	1	0	1	0	0	0	0	15059	101	4	0	250	0	SP3	2	174774916	Frame_Shift_Del	DEL	AT	TCGA-HW-A5KJ-01A-12D-A27K-08	8529624	174774916	68424457	9	51145											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	625	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	34338196	209113112	34086261	10	51146											
ZBTB20	26137	broad.mit.edu	37	chr3	114058229	114058231	+	In_Frame_Del	DEL	AGG	AGG	-																															cttgataaggtaatcctttaAggagaaggagcgccaacaga																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr3:114058229_114058231delAGG	ENST00000462705.1	-	12	2449_2451	c.1628_1630delCCT	c.(1627-1632)tcctta>tta	p.S543del	ZBTB20_ENST00000474710.1_In_Frame_Del_p.S616del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.S543del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.S543del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.S543del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.S543del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	616				S -> F (in Ref. 5; AAH29041).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TAATCCTTTAAGGAGAAGGAGCG	0.507													-	114058231	AGG	-	114058229	7	5	625	1	0	1	0	1	0	0	0	0	17630	69	3	0	380	0	ZBTB20	3	114058229	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08		114058229	83964201	11	51147											
CCDC96	257236	broad.mit.edu	37	chr4	7044489	7044489	+	Frame_Shift_Del	DEL	T	T	-																															tgctcgtccgcggcggtgccTccctgcgaagccgcttgctc																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:7044489delT	ENST00000310085.4	-	1	239	c.177delA	c.(175-177)ggafs	p.G60fs	RP11-367J11.2_ENST00000500031.1_RNA	NM_153376.2	NP_699207.1	Q2M329	CCD96_HUMAN	coiled-coil domain containing 96	60	Glu-rich.									endometrium(3)|kidney(1)|large_intestine(3)|lung(2)|skin(1)|urinary_tract(1)	11						CGGCGGTGCCTCCCTGCGAAG	0.736													-	7044489	T	-	7044489	7	5	625	1	0	1	0	1	0	0	0	0	2902	1538	54	0	1494	0	CCDC96	4	7044489	Frame_Shift_Del	DEL	T	TCGA-HW-A5KJ-01A-12D-A27K-08		7044489	184109787	12	51148											
GALNTL6	442117	broad.mit.edu	37	chr4	173961139	173961141	+	In_Frame_Del	DEL	AGA	AGA	-																															catggattgcaaccccgcagAgaagaagattttcatggcca																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr4:173961139_173961141delAGA	ENST00000506823.1	+	13	2351_2353	c.1694_1696delAGA	c.(1693-1698)gagaag>gag	p.K567del	GALNTL6_ENST00000508122.1_In_Frame_Del_p.K550del	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	567	Ricin B-type lectin.					Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	p.K567delK(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						AACCCCGCAGAGAAGAAGATTTT	0.424													-	173961141	AGA	-	173961139	7	5	625	1	0	1	0	1	0	0	0	0	6279	304	11	0	1740	0	GALNTL6	4	173961139	In_Frame_Del	DEL	AGA	TCGA-HW-A5KJ-01A-12D-A27K-08	166916650	173961139	17193137	13	51149											
SLC36A1	206358	broad.mit.edu	37	chr5	150867793	150867793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatgctcccatcttcatcaAttccacctgtgccttcatat	9	14	3	15	0	4	0	3	0	1	0	6	0	6	0	4	0	2	1	4	0	3	4	rs140057648		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:150867793A>G	ENST00000243389.3	+	11	1632	c.1409A>G	c.(1408-1410)aAt>aGt	p.N470S	SLC36A1_ENST00000520701.1_Missense_Mutation_p.N470S	NM_078483.2	NP_510968.2	Q7Z2H8	S36A1_HUMAN	solute carrier family 36 (proton/amino acid symporter), member 1	470					cellular nitrogen compound metabolic process|ion transport	endoplasmic reticulum|integral to membrane|lysosomal membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			endometrium(5)|kidney(9)|lung(8)|skin(2)|urinary_tract(1)	25		Medulloblastoma(196;0.091)|all_hematologic(541;0.103)|all_neural(839;0.138)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Glycine(DB00145)|L-Alanine(DB00160)	ATCTTCATCAATTCCACCTGT	0.567													G	150867793	A	G	150867793	3	3	625	1	0	0	0	0	1	0	0	0	14687	101	4	3	1447	3	SLC36A1	5	150867793	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		150867793	30047467	14	51150											
SLIT3	6586	broad.mit.edu	37	chr5	168093480	168093480	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaacacgcgaggcagccGcactctaagtgtctctccac	10	7	10	14	3	2	0	0	0	2	0	4	2	3	1	2	2	2	2	2	2	3	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr5:168093480G>A	ENST00000519560.1	-	36	4970	c.4551C>T	c.(4549-4551)tgC>tgT	p.C1517C	SLIT3_ENST00000332966.8_Silent_p.C1524C|CTC-558O2.2_ENST00000520041.1_RNA	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	1517	CTCK.				apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CGAGGCAGCCGCACTCTAAGT	0.627													A	168093480	G	A	168093480	2	1	625	1	0	0	0	0	0	0	0	1	14835	1079	38	1		1	SLIT3	5	168093480	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	17225687	168093480	12821780	15	51151											
HLA-DRB5	3127	broad.mit.edu	37	chr6	32486344	32486344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcctcacctttctgattcTtgaagtagatgaatagcccg	9	13	8	11	1	3	4	1	3	2	1	4	4	4	4	3	0	1	2	3	0	4	5	rs116408738	by1000genomes	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:32486344T>C	ENST00000374975.3	-	4	814	c.752A>G	c.(751-753)aAg>aGg	p.K251R		NM_002125.3	NP_002116.2	Q30154	DRB5_HUMAN	major histocompatibility complex, class II, DR beta 5	251					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|immune response	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|late endosome membrane|lysosomal membrane|MHC class II protein complex				NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)|prostate(1)|stomach(2)	10						TTTCTGATTCTTGAAGTAGAT	0.517													C	32486344	T	C	32486344	3	2	625	1	0	0	0	0	1	0	0	0	7264	1609	56	3	60	3	HLA-DRB5	6	32486344	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		32486344	138628723	16	51152											
EPB41L2	2037	broad.mit.edu	37	chr6	131277495	131277497	+	In_Frame_Del	DEL	TCC	TCC	-																															gaggtggctgggaaccttttTcctcctctggatcggaagac																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr6:131277495_131277497delTCC	ENST00000337057.3	-	2	310_312	c.129_131delGGA	c.(127-132)gaggaa>gaa	p.43_44EE>E	EPB41L2_ENST00000527659.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530481.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000528282.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000392427.3_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525193.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000529208.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000368128.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000530148.1_Intron|EPB41L2_ENST00000527411.1_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000445890.2_In_Frame_Del_p.43_44EE>E|EPB41L2_ENST00000525271.1_In_Frame_Del_p.43_44EE>E	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	43					cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGAACCTTTTTCCTCCTCTGGAT	0.483													-	131277497	TCC	-	131277495	7	5	625	1	0	1	0	1	0	0	0	0	5194	1783	62	0	2958	0	EPB41L2	6	131277495	In_Frame_Del	DEL	TCC	TCGA-HW-A5KJ-01A-12D-A27K-08	98791151	131277495	39837572	17	51153											
PCLO	27445	broad.mit.edu	37	chr7	82784381	82784381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagatgggggttttgttgAgccaggctgttgaggtgagg	6	13	19	3	0	0	4	0	4	0	1	0	5	0	4	1	5	1	4	1	5	0	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:82784381A>G	ENST00000333891.9	-	2	1913	c.1576T>C	c.(1576-1578)Tca>Cca	p.S526P	PCLO_ENST00000423517.2_Missense_Mutation_p.S526P	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Pro-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						GGTTTTGTTGAGCCAGGCTGT	0.567													G	82784381	A	G	82784381	3	3	625	1	0	0	0	0	1	0	0	0	11659	304	11	3	13965	3	PCLO	7	82784381	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		82784381	76354282	18	51154											
KLHDC10	23008	broad.mit.edu	37	chr7	129761996	129761996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctcaataccagagagtggAcacaactgaaaccaaacaac	19	5	6	11	0	1	2	1	1	1	1	2	4	1	3	2	1	5	0	2	1	6	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr7:129761996A>G	ENST00000335420.5	+	5	867	c.733A>G	c.(733-735)Aca>Gca	p.T245A		NM_014997.3	NP_055812.1	Q6PID8	KLD10_HUMAN	kelch domain containing 10	245										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|liver(2)|lung(10)|prostate(1)	17						CAGAGAGTGGACACAACTGAA	0.423													G	129761996	A	G	129761996	3	3	625	1	0	0	0	0	1	0	0	0	8413	275	10	3	751	3	KLHDC10	7	129761996	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	46977615	129761996	29376667	19	51155											
NEFL	4747	broad.mit.edu	37	chr8	24813443	24813443	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgcctcgtcggcgcctttgCgcgcttccatcagccggccc	2	8	11	20	7	1	0	1	0	0	0	4	0	2	0	6	2	2	1	6	2	0	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:24813443C>T	ENST00000221169.5	-	0	1181							P07196	NFL_HUMAN	neurofilament, light polypeptide						anterograde axon cargo transport|axon transport of mitochondrion|neurofilament bundle assembly|retrograde axon cargo transport|synaptic transmission	cytosol|neurofilament	identical protein binding|protein C-terminus binding|structural constituent of cytoskeleton			central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)	21		Ovarian(32;0.00965)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GGCGCCTTTGCGCGCTTCCAT	0.647													T	24813443	C	T	24813443	1	4	625	0	1	0	0	0	0	0	0	0	10391	768	27	1		1	NEFL	8	24813443	RNA	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		24813443	121550579	20	51156											
FAM91A1	157769	broad.mit.edu	37	chr8	124789562	124789563	+	Splice_Site	DEL	TG	TG	-																															ccaattttactgctgctgacTgtaagtatttaattgtgctg																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr8:124789562_124789563delTG	ENST00000334705.7	+	4	613	c.367delTG	c.(367-369)tgg>gg	p.W123fs	FAM91A1_ENST00000521166.1_Splice_Site_p.W123fs	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	123										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TGCTGCTGACTGTAAGTATTTA	0.302													-	124789563	TG	-	124789562	8	5	625	1	0	1	0	1	0	0	1	0	5700	1594	55	0	381	0	FAM91A1	8	124789562	Splice_Site	DEL	TG	TCGA-HW-A5KJ-01A-12D-A27K-08	99976119	124789562	21574460	21	51157											
RUSC2	9853	broad.mit.edu	37	chr9	35560631	35560633	+	In_Frame_Del	DEL	GAG	GAG	-																															ctgaggcctgccctgcctctGaggaggccctgggccgggaa																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:35560631_35560633delGAG	ENST00000455600.1	+	10	4563_4565	c.3994_3996delGAG	c.(3994-3996)gagdel	p.E1333del		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	1333						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			CCCTGCCTCTGAGGAGGCCCTGG	0.7													-	35560633	GAG	-	35560631	7	5	625	1	0	1	0	1	0	0	0	0	13842	1291	45	0	4028	0	RUSC2	9	35560631	In_Frame_Del	DEL	GAG	TCGA-HW-A5KJ-01A-12D-A27K-08		35560631	105652800	22	51158											
NOTCH1	4851	broad.mit.edu	37	chr9	139397632	139397635	+	Splice_Site	DEL	ACTC	ACTC	-																															cccgggatggggccacacttActctgcacggcctcgatctt																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139397632_139397635delACTC	ENST00000277541.6	-	27	5241_5243	c.5166_5168delGAGT	c.(5164-5169)cagagt>cat	p.QS1722fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1722					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.?(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGCCACACTTACTCTGCACGGCCT	0.662			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139397635	ACTC	-	139397632	8	5	625	1	0	1	0	1	0	0	1	0	10623	405	14	0	2530	0	NOTCH1	9	139397632	Splice_Site	DEL	ACTC	TCGA-HW-A5KJ-01A-12D-A27K-08	103837001	139397632	1815799	23	51159											
NOTCH1	4851	broad.mit.edu	37	chr9	139413073	139413075	+	In_Frame_Del	DEL	AGG	AGG	-																															atggggacactcgcagtagaAggaggccacacggtcatggc																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr9:139413073_139413075delAGG	ENST00000277541.6	-	6	1142_1144	c.1067_1069delCCT	c.(1066-1071)tccttc>ttc	p.S356del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	356	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.S356del(1)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCGCAGTAGAAGGAGGCCACACG	0.65			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413075	AGG	-	139413073	7	5	625	1	0	1	0	1	0	0	0	0	10623	72	3	0	6714	0	NOTCH1	9	139413073	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	15441	139413073	1800358	24	51160											
SLIT1	6585	broad.mit.edu	37	chr10	98797514	98797514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcgtgaactggttcccGtccaaatagctgcagagaga	12	7	11	11	2	0	3	0	1	0	2	2	4	2	3	3	1	4	3	3	1	3	2	rs141130521	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr10:98797514G>A	ENST00000266058.4	-	22	2552	c.2307C>T	c.(2305-2307)gaC>gaT	p.D769D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Silent_p.D769D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	769					axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		ACTGGTTCCCGTCCAAATAGC	0.597											OREG0020406	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	98797514	G	A	98797514	2	1	625	1	0	0	0	0	0	0	0	1	14833	1136	40	1		1	SLIT1	10	98797514	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08		98797514	36737233	25	51161											
MS4A12	54860	broad.mit.edu	37	chr11	60268575	60268575	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggaattgttttgtgtttaAtatccttctcttttagagaa	9	21	7	4	0	1	1	0	0	1	1	3	3	2	2	1	1	0	2	1	1	5	10			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:60268575A>G	ENST00000016913.4	+	3	391	c.334A>G	c.(334-336)Ata>Gta	p.I112V	MS4A12_ENST00000537076.1_Intron	NM_017716.2	NP_060186.2	Q9NXJ0	M4A12_HUMAN	membrane-spanning 4-domains, subfamily A, member 12	112						integral to membrane	receptor activity			breast(1)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)	17						TTTGTGTTTAATATCCTTCTC	0.373													G	60268575	A	G	60268575	3	3	625	1	0	0	0	0	1	0	0	0	9932	101	4	3	340	3	MS4A12	11	60268575	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		60268575	74737941	26	51162											
CCDC88B	283234	broad.mit.edu	37	chr11	64111866	64111866	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccaaaattcaggccccgcAgttgctgggaggagagacag	12	5	14	10	1	1	1	1	0	0	1	1	5	1	3	3	3	1	3	3	3	2	2	rs142814776		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:64111866A>C	ENST00000356786.5	+	14	1897	c.1853A>C	c.(1852-1854)cAg>cCg	p.Q618P	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	618					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGGCCCCGCAGTTGCTGGGA	0.647													C	64111866	A	C	64111866	3	2	625	1	0	0	0	0	1	0	0	0	2892	188	7	5	1907	5	CCDC88B	11	64111866	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	3843291	64111866	70894650	27	51163											
RCE1	9986	broad.mit.edu	37	chr11	66610961	66610961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggatgggctgcgactgcTgtcggtgtcgcggccggagc	3	7	20	11	6	0	0	0	0	0	0	2	3	0	2	1	6	3	2	1	6	0	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:66610961T>C	ENST00000309657.3	+	1	79	c.35T>C	c.(34-36)cTg>cCg	p.L12P	C11orf80_ENST00000360962.4_3'UTR|RCE1_ENST00000524506.1_Missense_Mutation_p.L12P	NM_001032279.1|NM_005133.2	NP_001027450.1|NP_005124.1	Q9Y256	FACE2_HUMAN	Ras converting CAAX endopeptidase 1	12					proteolysis	endoplasmic reticulum membrane|integral to plasma membrane	metalloendopeptidase activity			breast(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	10						CTGCGACTGCTGTCGGTGTCG	0.756													C	66610961	T	C	66610961	3	2	625	1	0	0	0	0	1	0	0	0	13264	1580	55	3	37	3	RCE1	11	66610961	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	2499095	66610961	68395555	28	51164											
FAM181B	220382	broad.mit.edu	37	chr11	82444076	82444078	+	In_Frame_Del	DEL	GAA	GAA	-																															cctgcccgggacggctccgtGaagaaggacggaggcagatt																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82444076_82444078delGAA	ENST00000329203.3	-	1	828_830	c.694_696delTTC	c.(694-696)ttcdel	p.F232del		NM_175885.3	NP_787081.2	A6NEQ2	F181B_HUMAN	family with sequence similarity 181, member B	232	Gly-rich.									large_intestine(1)|lung(2)|prostate(1)	4						ACGGCTCCGTGAAGAAGGACGGA	0.754													-	82444078	GAA	-	82444076	7	5	625	1	0	1	0	1	0	0	0	0	5555	1281	45	0	588	0	FAM181B	11	82444076	In_Frame_Del	DEL	GAA	TCGA-HW-A5KJ-01A-12D-A27K-08	15833115	82444076	52562440	29	51165											
C11orf82	220042	broad.mit.edu	37	chr11	82643883	82643883	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttttcaactgtaaaggAaatctaagtcctagtgttga	12	15	7	7	0	2	1	1	1	1	0	4	2	4	2	2	1	1	2	2	1	6	7			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr11:82643883A>T	ENST00000533655.1	+	6	1715	c.1503A>T	c.(1501-1503)ggA>ggT	p.G501G	C11orf82_ENST00000329143.3_Silent_p.G200G|C11orf82_ENST00000525361.1_Intron|C11orf82_ENST00000430323.2_Silent_p.G501G|C11orf82_ENST00000528759.1_3'UTR	NM_145018.3	NP_659455.3	Q8IXT1	NOXIN_HUMAN	chromosome 11 open reading frame 82	501					apoptosis|cell cycle arrest	cytoplasm|nucleus				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	33						ACTGTAAAGGAAATCTAAGTC	0.368													T	82643883	A	T	82643883	2	4	625	1	0	0	0	0	0	0	0	1	1677	233	9	5		5	C11orf82	11	82643883	Silent	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	199807	82643883	52362633	30	51166											
CLEC9A	283420	broad.mit.edu	37	chr12	10205309	10205321	+	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	CCTCTCTTCAGTG	-																															gcacgaggaagaaatatacaCctctcttcagtgggatagcc																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:10205309_10205321delCCTCTCTTCAGTG	ENST00000355819.1	+	4	636_648	c.23_35delCCTCTCTTCAGTG	c.(22-36)acctctcttcagtggfs	p.TSLQW8fs	CLEC9A_ENST00000544751.1_3'UTR	NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	8					positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						GAAATATACACCTCTCTTCAGTGGGATAGCCCA	0.441													-	10205321	CCTCTCTTCAGTG	-	10205309	7	5	625	1	0	1	0	1	0	0	0	0	3553	507	18	0	25	0	CLEC9A	12	10205309	Frame_Shift_Del	DEL	CCTCTCTTCAGTG	TCGA-HW-A5KJ-01A-12D-A27K-08		10205309	123646586	31	51167											
IRAK4	51135	broad.mit.edu	37	chr12	44180218	44180218	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagctagatattaaagaagAaattgaagatgaagaaaaga	24	7	9	1	0	0	8	0	2	0	6	0	8	0	8	0	0	1	1	0	0	11	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:44180218A>C	ENST00000431837.1	+	10	1141	c.833A>C	c.(832-834)gAa>gCa	p.E278A	IRAK4_ENST00000440781.2_Missense_Mutation_p.E278A|IRAK4_ENST00000551736.1_Missense_Mutation_p.E402A|IRAK4_ENST00000448290.2_Missense_Mutation_p.E402A	NM_001145256.1|NM_001145257.1	NP_001138728.1|NP_001138729.1	Q9NWZ3	IRAK4_HUMAN	interleukin-1 receptor-associated kinase 4	402	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity					all_cancers(12;0.00149)	Lung NSC(34;0.0804)|all_lung(34;0.181)		GBM - Glioblastoma multiforme(48;0.04)		ATTAAAGAAGAAATTGAAGAT	0.249													C	44180218	A	C	44180218	3	2	625	1	0	0	0	0	1	0	0	0	7883	246	9	5	1243	5	IRAK4	12	44180218	Missense_Mutation	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08	33974909	44180218	89671677	32	51168											
RASSF9	9182	broad.mit.edu	37	chr12	86199470	86199470	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaaattgcatattgggctgCtcatctccccacgctttcca	9	12	6	14	1	2	0	1	0	1	0	4	0	3	0	3	1	2	4	3	1	2	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:86199470C>T	ENST00000361228.3	-	2	686	c.318G>A	c.(316-318)gaG>gaA	p.E106E		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	106	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATTGGGCTGCTCATCTCCCC	0.448													T	86199470	C	T	86199470	2	4	625	1	0	0	0	0	0	0	0	1	13181	796	28	2		2	RASSF9	12	86199470	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	42019252	86199470	47652425	33	51169											
UHRF1BP1L	23074	broad.mit.edu	37	chr12	100478361	100478361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacgttgcactcaaattcaTgcaataactcattggcccat	13	11	5	12	1	3	0	3	0	0	0	3	0	3	0	1	1	4	3	1	1	4	4			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:100478361T>C	ENST00000279907.7	-	10	1393	c.1181A>G	c.(1180-1182)cAt>cGt	p.H394R	UHRF1BP1L_ENST00000545232.2_Missense_Mutation_p.H44R|UHRF1BP1L_ENST00000356828.3_Missense_Mutation_p.H394R	NM_015054.1	NP_055869.1	A0JNW5	UH1BL_HUMAN	UHRF1 binding protein 1-like	394										breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(21)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	50						CTCAAATTCATGCAATAACTC	0.393													C	100478361	T	C	100478361	3	2	625	1	0	0	0	0	1	0	0	0	17071	1464	51	3	3285	3	UHRF1BP1L	12	100478361	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08	14278891	100478361	33373534	34	51170											
ALDH1L2	160428	broad.mit.edu	37	chr12	105464505	105464507	+	In_Frame_Del	DEL	CTT	CTT	-																															ggatctgtaggcttctgccaCttctttgatggtcttgccct																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr12:105464505_105464507delCTT	ENST00000258494.9	-	3	409_411	c.269_271delAAG	c.(268-273)gaagtg>gtg	p.E90del	ALDH1L2_ENST00000424857.2_In_Frame_Del_p.E90del	NM_001034173.3	NP_001029345.2	Q3SY69	AL1L2_HUMAN	aldehyde dehydrogenase 1 family, member L2	90	GART.				10-formyltetrahydrofolate catabolic process|biosynthetic process	mitochondrion	acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity|phosphopantetheine binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(13)|prostate(2)|skin(3)|stomach(2)	35						GCTTCTGCCACTTCTTTGATGGT	0.463													-	105464507	CTT	-	105464505	7	5	625	1	0	1	0	1	0	0	0	0	495	565	20	0	2584	0	ALDH1L2	12	105464505	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	4986144	105464505	28387390	35	51171											
BRMS1L	84312	broad.mit.edu	37	chr14	36295747	36295749	+	In_Frame_Del	DEL	AAG	AAG	-																															cagtccattcccgaggggatAagaaggagaccaaccatcac																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr14:36295747_36295749delAAG	ENST00000216807.7	+	1	224_226	c.25_27delAAG	c.(25-27)aagdel	p.K10del	RP11-317N8.5_ENST00000555918.1_RNA|BRMS1L_ENST00000543183.1_5'UTR	NM_032352.3	NP_115728.2	Q5PSV4	BRM1L_HUMAN	breast cancer metastasis-suppressor 1-like	10					regulation of growth|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|cervix(1)|endometrium(2)|kidney(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(36;0.137)|Hepatocellular(127;0.158)		Lung(8;1.7e-07)|LUAD - Lung adenocarcinoma(9;3e-07)|Epithelial(34;0.00467)|all cancers(34;0.0157)|BRCA - Breast invasive adenocarcinoma(188;0.158)	GBM - Glioblastoma multiforme(112;0.0333)		CCGAGGGGATAAGAAGGAGACCA	0.631													-	36295749	AAG	-	36295747	7	5	625	1	0	1	0	1	0	0	0	0	1526	363	13	0	27	0	BRMS1L	14	36295747	In_Frame_Del	DEL	AAG	TCGA-HW-A5KJ-01A-12D-A27K-08		36295747	71053793	36	51172											
BAHD1	22893	broad.mit.edu	37	chr15	40751367	40751367	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgcagaagtagatgggcGctccactgagcccccagcac	10	5	11	15	1	0	3	0	1	0	2	1	3	1	3	4	1	3	4	4	1	2	1	rs150307966		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr15:40751367G>A	ENST00000561234.1	+	2	963	c.704G>A	c.(703-705)cGc>cAc	p.R235H	BAHD1_ENST00000560846.1_Missense_Mutation_p.R235H|BAHD1_ENST00000416165.1_Missense_Mutation_p.R235H			Q8TBE0	BAHD1_HUMAN	bromo adjacent homology domain containing 1	235					heterochromatin formation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin silencing complex|chromosome	chromatin binding|DNA binding|protein binding			NS(1)|endometrium(6)|kidney(3)|large_intestine(3)|lung(10)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	28		all_cancers(109;8.28e-19)|all_epithelial(112;2.64e-15)|Lung NSC(122;5.14e-11)|all_lung(180;1.27e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.46e-06)|BRCA - Breast invasive adenocarcinoma(123;0.08)		GTAGATGGGCGCTCCACTGAG	0.627													A	40751367	G	A	40751367	3	1	625	1	0	0	0	0	1	0	0	0	1302	1087	38	1	706	1	BAHD1	15	40751367	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08		40751367	61780025	37	51173											
CA5A	763	broad.mit.edu	37	chr16	87938397	87938397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccacgtctacaaacctctgCggggtacgcgtggccgtcca	7	7	12	15	5	2	0	0	0	2	0	3	0	3	0	4	3	4	1	4	3	3	2			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr16:87938397C>T	ENST00000309893.2	-	3	519	c.454G>A	c.(454-456)Gca>Aca	p.A152T		NM_001739.1	NP_001730.1	P35218	CAH5A_HUMAN	carbonic anhydrase VA, mitochondrial	152					one-carbon metabolic process	mitochondrial matrix	carbonate dehydratase activity|zinc ion binding			large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(80;0.0513)		CAAACCTCTGCGGGGTACGCG	0.577													T	87938397	C	T	87938397	3	4	625	1	0	0	0	0	1	0	0	0	2545	768	27	1	483	1	CA5A	16	87938397	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		87938397	2416356	38	51174											
KSR1	8844	broad.mit.edu	37	chr17	25932772	25932772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgaactaccggcagacgCggcatgagaacgtggtgctc	10	7	14	10	4	0	4	0	3	0	2	1	5	0	4	1	3	4	3	1	3	3	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:25932772C>T	ENST00000398988.3	+	16	2027	c.1582C>T	c.(1582-1584)Cgg>Tgg	p.R528W	KSR1_ENST00000268763.6_Missense_Mutation_p.R528W|KSR1_ENST00000509603.2_Missense_Mutation_p.R643W|KSR1_ENST00000319524.6_Missense_Mutation_p.R665W	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	663					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		CCGGCAGACGCGGCATGAGAA	0.597													T	25932772	C	T	25932772	3	4	625	1	0	0	0	0	1	0	0	0	8640	759	27	1	1628	1	KSR1	17	25932772	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		25932772	55262438	39	51175											
PIGW	284098	broad.mit.edu	37	chr17	34893506	34893508	+	In_Frame_Del	DEL	AGG	AGG	-																															caatggtttgtctagaggtcAggaggagaaaatatatggaa																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:34893506_34893508delAGG	ENST00000592983.1	+	2	1136_1138	c.556_558delAGG	c.(556-558)aggdel	p.R188del	MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_In_Frame_Del_p.R188del			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	188					C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TCTAGAGGTCAGGAGGAGAAAAT	0.424													-	34893508	AGG	-	34893506	7	5	625	1	0	1	0	1	0	0	0	0	11979	179	7	0	558	0	PIGW	17	34893506	In_Frame_Del	DEL	AGG	TCGA-HW-A5KJ-01A-12D-A27K-08	8960734	34893506	46301704	40	51176											
ADAM11	4185	broad.mit.edu	37	chr17	42855353	42855353	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagggaagtgcatctgtcagCcagactggacaggcaaagac	14	5	13	9	0	2	2	1	0	1	2	2	4	2	4	1	3	2	2	1	3	3	0			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr17:42855353C>A	ENST00000200557.6	+	24	2273	c.2104C>A	c.(2104-2106)Cca>Aca	p.P702T	ADAM11_ENST00000535346.1_Missense_Mutation_p.P502T	NM_002390.4	NP_002381.2	O75078	ADA11_HUMAN	ADAM metallopeptidase domain 11	702	EGF-like.				integrin-mediated signaling pathway|proteolysis	integral to membrane|plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	33		Prostate(33;0.0959)				CATCTGTCAGCCAGACTGGAC	0.612													A	42855353	C	A	42855353	3	1	625	1	0	0	0	0	1	0	0	0	235	739	26	4	2198	4	ADAM11	17	42855353	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	7961847	42855353	38339857	41	51177											
UNC13A	23025	broad.mit.edu	37	chr19	17752258	17752258	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggcaaactcgtccacaatCtcctgggctgtctcatcgta	9	11	8	13	2	2	0	1	0	2	0	7	0	3	0	2	2	1	3	2	2	3	1			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:17752258C>A	ENST00000428389.2	-	22	2843	c.2844G>T	c.(2842-2844)gaG>gaT	p.E948D	UNC13A_ENST00000550896.1_Missense_Mutation_p.E858D|UNC13A_ENST00000551649.1_Missense_Mutation_p.E860D|UNC13A_ENST00000519716.2_Missense_Mutation_p.E860D|UNC13A_ENST00000252773.7_Missense_Mutation_p.E860D|UNC13A_ENST00000552293.1_Missense_Mutation_p.E860D			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	860					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						CGTCCACAATCTCCTGGGCTG	0.567													A	17752258	C	A	17752258	3	1	625	1	0	0	0	0	1	0	0	0	17086	912	32	4	2623	4	UNC13A	19	17752258	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		17752258	41376725	42	51178											
ZNF614	80110	broad.mit.edu	37	chr19	52519785	52519785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatgtacaacaagatagcGcttcatggtgaagccttttc	11	12	9	9	1	1	3	1	2	0	1	2	3	1	3	1	1	4	2	1	1	5	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr19:52519785G>A	ENST00000270649.6	-	5	1610	c.1066C>T	c.(1066-1068)Cgc>Tgc	p.R356C	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	356					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		ACAAGATAGCGCTTCATGGTG	0.428													A	52519785	G	A	52519785	3	1	625	1	0	0	0	0	1	0	0	0	18140	1087	38	1	695	1	ZNF614	19	52519785	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	34767527	52519785	6609198	43	51179											
MAVS	57506	broad.mit.edu	37	chr20	3841977	3841977	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcactacatctttgtcctctAgggacctcggaccgtccccc	6	11	7	17	2	3	0	1	0	2	0	6	2	5	2	5	2	1	0	5	2	2	3			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:3841977A>G	ENST00000428216.2	+	4	420		c.e4-1		MAVS_ENST00000358134.6_Intron|MAVS_ENST00000416600.2_Splice_Site	NM_020746.4	NP_065797.2	Q7Z434	MAVS_HUMAN	mitochondrial antiviral signaling protein						activation of innate immune response|cellular response to exogenous dsRNA|defense response to bacterium|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of chemokine (C-C motif) ligand 5 production|positive regulation of defense response to virus by host|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|positive regulation of interleukin-8 production|positive regulation of IP-10 production|positive regulation of protein import into nucleus, translocation|positive regulation of protein phosphorylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription factor import into nucleus|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|positive regulation of type I interferon-mediated signaling pathway|response to virus	integral to membrane|mitochondrial outer membrane	CARD domain binding|protein kinase binding|signal transducer activity			autonomic_ganglia(1)|breast(3)|endometrium(1)|large_intestine(3)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						TTTGTCCTCTAGGGACCTCGG	0.602													G	3841977	A	G	3841977	5	3	625	1	0	0	0	0	0	0	1	0	9413	434	15	3	301	3	MAVS	20	3841977	Splice_Site	SNP	A	TCGA-HW-A5KJ-01A-12D-A27K-08		3841977	59183543	44	51180											
CTCFL	140690	broad.mit.edu	37	chr20	56078504	56078504	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtaccgtctccgttcgCggcttccttccatcccttcg	4	13	7	17	5	2	0	1	0	1	0	8	0	5	0	5	1	1	3	5	1	1	5	rs142170954	byFrequency	TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr20:56078504C>T	ENST00000608263.1	-	9	2489	c.1828G>A	c.(1828-1830)Gcg>Acg	p.A610T	CTCFL_ENST00000502686.2_Missense_Mutation_p.A348T|CTCFL_ENST00000608440.1_Missense_Mutation_p.A610T|CTCFL_ENST00000371196.2_Missense_Mutation_p.A610T|CTCFL_ENST00000429804.3_Missense_Mutation_p.A560T|CTCFL_ENST00000243914.3_Missense_Mutation_p.A610T|CTCFL_ENST00000423479.3_Missense_Mutation_p.A610T|CTCFL_ENST00000433949.3_Missense_Mutation_p.A405T|CTCFL_ENST00000609232.1_Missense_Mutation_p.A610T	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			TCTCCGTTCGCGGCTTCCTTC	0.502													T	56078504	C	T	56078504	3	4	625	1	0	0	0	0	1	0	0	0	4034	768	27	1	171	1	CTCFL	20	56078504	Missense_Mutation	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08	52236527	56078504	6947016	45	51181											
ADAMTS1	9510	broad.mit.edu	37	chr21	28210518	28210518	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaagctgccattgttccTggatcccctctggttccgct	7	12	9	13	1	1	1	0	0	1	1	4	2	4	2	5	2	2	4	5	2	2	3			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:28210518T>A	ENST00000284984.3	-	9	2738	c.2284A>T	c.(2284-2286)Agg>Tgg	p.R762W		NM_006988.3	NP_008919.3	Q9UHI8	ATS1_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 1		Spacer.				integrin-mediated signaling pathway|negative regulation of cell proliferation|proteolysis		heparin binding|zinc ion binding			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(20)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	42		Breast(209;0.000962)		Lung(58;0.215)		CCATTGTTCCTGGATCCCCTC	0.448													A	28210518	T	A	28210518	3	1	625	1	0	0	0	0	1	0	0	0	255	1579	55	5	623	5	ADAMTS1	21	28210518	Missense_Mutation	SNP	T	TCGA-HW-A5KJ-01A-12D-A27K-08		28210518	19919377	46	51182											
ERG	2078	broad.mit.edu	37	chr21	39774503	39774503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctagcatgcattaaccGtggagagttttgtaaggctt	9	15	11	6	1	1	1	0	0	1	1	1	2	1	1	1	2	3	6	1	2	3	7			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr21:39774503G>A	ENST00000442448.1	-	7	941	c.670C>T	c.(670-672)Cgg>Tgg	p.R224W	ERG_ENST00000398911.1_Missense_Mutation_p.R224W|ERG_ENST00000417133.2_Missense_Mutation_p.R224W|ERG_ENST00000398910.1_Missense_Mutation_p.R224W|ERG_ENST00000398897.1_Missense_Mutation_p.R125W|ERG_ENST00000398907.1_Missense_Mutation_p.R217W|ERG_ENST00000288319.7_Missense_Mutation_p.R217W|ERG_ENST00000429727.2_Intron|ERG_ENST00000398905.1_Missense_Mutation_p.R217W|ERG_ENST00000398919.2_Missense_Mutation_p.R224W|ERG_ENST00000453032.2_Missense_Mutation_p.R125W	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	224					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				TGCATTAACCGTGGAGAGTTT	0.438			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39774503	G	A	39774503	3	1	625	1	0	0	0	0	1	0	0	0	5263	1144	40	1	814	1	ERG	21	39774503	Missense_Mutation	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	11563985	39774503	8355392	47	51183											
ZNF280A	129025	broad.mit.edu	37	chr22	22869694	22869694	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtcacatgatttgcaggctgCgacacgtgagcaggatattg	10	10	13	8	2	1	2	1	2	0	0	1	4	1	3	0	2	3	3	0	2	1	3	rs150360634		TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:22869694C>T	ENST00000302097.3	-	2	513	c.261G>A	c.(259-261)tcG>tcA	p.S87S		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTGCAGGCTGCGACACGTGAG	0.468													T	22869694	C	T	22869694	2	4	625	1	0	0	0	0	0	0	0	1	17915	755	27	1		1	ZNF280A	22	22869694	Silent	SNP	C	TCGA-HW-A5KJ-01A-12D-A27K-08		22869694	28434872	48	51184											
SOX10	6663	broad.mit.edu	37	chr22	38379483	38379483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttcatgggccgcttgacGtgcggcttgcttttgctggc	2	13	15	11	4	1	1	1	1	0	0	1	1	1	1	1	3	3	5	1	3	0	5			TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:38379483G>A	ENST00000396884.2	-	2	591	c.309C>T	c.(307-309)caC>caT	p.H103H	POLR2F_ENST00000405557.1_Intron|SOX10_ENST00000360880.2_Silent_p.H103H|POLR2F_ENST00000407936.1_Intron|SOX10_ENST00000470555.1_Intron	NM_006941.3	NP_008872.1	P56693	SOX10_HUMAN	SRY (sex determining region Y)-box 10	103						cytoplasm|nucleus	DNA binding|identical protein binding|transcription coactivator activity			NS(6)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(4)|skin(2)	20	Melanoma(58;0.045)					GCCGCTTGACGTGCGGCTTGC	0.662													A	38379483	G	A	38379483	2	1	625	1	0	0	0	0	0	0	0	1	15035	1136	40	1		1	SOX10	22	38379483	Silent	SNP	G	TCGA-HW-A5KJ-01A-12D-A27K-08	15509789	38379483	12925083	49	51185											
PRR5	55615	broad.mit.edu	37	chr22	45127647	45127649	+	In_Frame_Del	DEL	CTT	CTT	-																															tcactggcagagacctgggaCttcttcttcagtgacgtgct																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chr22:45127647_45127649delCTT	ENST00000403581.1	+	7	1038_1040	c.429_431delCTT	c.(427-432)gacttc>gac	p.F146del	PRR5_ENST00000006251.7_In_Frame_Del_p.F114del|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000336985.6_In_Frame_Del_p.F123del|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_In_Frame_Del_p.F123del|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000517296.3_In_Frame_Del_p.F123del	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGACCTGGGACTTCTTCTTCAGT	0.66													-	45127649	CTT	-	45127647	7	5	625	1	0	1	0	1	0	0	0	0	12685	564	20	0	378	0	PRR5	22	45127647	In_Frame_Del	DEL	CTT	TCGA-HW-A5KJ-01A-12D-A27K-08	6748164	45127647	6176919	50	51186											
BCOR	54880	broad.mit.edu	37	chrX	39934072	39934075	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															cattgatgttgagagggctcTgtttgtcgctggcaggcctg																										TCGA-HW-A5KJ-01A-12D-A27K-08	TCGA-HW-A5KJ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5cf15542-177a-41a2-ab0f-431ac8f12270	d7a1caca-7dea-4119-969a-6a92db1deb14	g.chrX:39934072_39934075delTGTT	ENST00000342274.4	-	4	886_889	c.524_527delAACA	c.(523-528)aaacagfs	p.KQ175fs	BCOR_ENST00000378444.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000378455.4_Frame_Shift_Del_p.KQ175fs|BCOR_ENST00000397354.3_Frame_Shift_Del_p.KQ175fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	175					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GAGAGGGCTCTGTTTGTCGCTGGC	0.539			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						-	39934075	TGTT	-	39934072	7	5	625	1	0	1	0	1	0	0	0	0	1391	1580	55	0	4788	0	BCOR	23	39934072	Frame_Shift_Del	DEL	TGTT	TCGA-HW-A5KJ-01A-12D-A27K-08		39934072	115336488	51	51187											
EXTL1	2134	broad.mit.edu	37	chr1	26360306	26360306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacactgctgagaggaccaaCgaattctccatggttctcac	11	10	8	12	1	2	1	1	1	2	1	4	4	2	2	2	2	3	2	2	2	3	3	rs137944707	byFrequency	TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:26360306C>T	ENST00000374280.3	+	9	2505	c.1638C>T	c.(1636-1638)aaC>aaT	p.N546N		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	546					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		AGAGGACCAACGAATTCTCCA	0.597													T	26360306	C	T	26360306	2	4	626	1	0	0	0	0	0	0	0	1	5367	535	19	1		1	EXTL1	1	26360306	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26360306	222890315	1	51188											
KIAA0754	643314	broad.mit.edu	37	chr1	39876726	39876726	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacctggccgagggccacAaaaagtttagctaagggagg	13	5	14	9	1	0	0	0	0	0	0	0	2	0	1	3	4	2	3	3	4	5	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:39876726A>G	ENST00000530275.1	+	1	576	c.381A>G	c.(379-381)acA>acG	p.T127T	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000567887.1_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	127										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CGAGGGCCACAAAAAGTTTAG	0.512											OREG0013393	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	39876726	A	G	39876726	2	3	626	1	0	0	0	0	0	0	0	1	8250	117	5	3		3	KIAA0754	1	39876726	Silent	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	13516420	39876726	209373895	2	51189											
CACNA1E	777	broad.mit.edu	37	chr1	181724388	181724388	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaggccgtcttcgactgcGtagtgacctccttgaagaat	9	10	10	12	3	1	3	0	2	1	1	3	4	2	3	3	1	1	1	3	1	3	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:181724388G>A	ENST00000526775.1	+	27	3952	c.3787G>A	c.(3787-3789)Gta>Ata	p.V1263I	CACNA1E_ENST00000358338.5_Missense_Mutation_p.V1214I|CACNA1E_ENST00000367573.2_Missense_Mutation_p.V1282I|CACNA1E_ENST00000367570.1_Missense_Mutation_p.V1282I|CACNA1E_ENST00000357570.5_Missense_Mutation_p.V1233I|CACNA1E_ENST00000367567.4_Missense_Mutation_p.V889I|CACNA1E_ENST00000360108.3_Missense_Mutation_p.V1263I	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1282					energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						CTTCGACTGCGTAGTGACCTC	0.502													A	181724388	G	A	181724388	3	1	626	1	0	0	0	0	1	0	0	0	2568	1145	40	1	3954	1	CACNA1E	1	181724388	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	141847662	181724388	67526233	3	51190											
OBSCN	84033	broad.mit.edu	37	chr1	228430986	228430986	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggtggcccaggcccagaCggaggtgatgtggtacaaag	10	5	17	9	2	0	2	0	1	0	1	0	4	0	3	2	6	1	1	2	6	2	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr1:228430986C>T	ENST00000570156.2	+	11	3382	c.3308C>T	c.(3307-3309)aCg>aTg	p.T1103M	OBSCN_ENST00000284548.11_Missense_Mutation_p.T1011M|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000422127.1_Missense_Mutation_p.T1011M	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	38	Ig-like 11.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGCCCAGACGGAGGTGATG	0.622													T	228430986	C	T	228430986	3	4	626	1	0	0	0	0	1	0	0	0	10888	536	19	1	3066	1	OBSCN	1	228430986	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	46706598	228430986	20819635	4	51191											
VAMP5	10791	broad.mit.edu	37	chr2	85818866	85818866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggaatagagttggagCggtgccagcagcaggcgaac	12	4	17	8	2	0	1	0	0	0	1	0	4	0	3	1	5	5	4	1	5	3	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:85818866C>T	ENST00000306384.4	+	2	105	c.22C>T	c.(22-24)Cgg>Tgg	p.R8W		NM_006634.2	NP_006625.1	O95183	VAMP5_HUMAN	vesicle-associated membrane protein 5	8	v-SNARE coiled-coil homology.				cell differentiation|vesicle-mediated transport	endomembrane system		p.R8W(1)		NS(1)|large_intestine(3)|lung(1)	5						AGAGTTGGAGCGGTGCCAGCA	0.602													T	85818866	C	T	85818866	3	4	626	1	0	0	0	0	1	0	0	0	17218	759	27	1	28	1	VAMP5	2	85818866	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		85818866	157380507	5	51192											
PGAP1	80055	broad.mit.edu	37	chr2	197708797	197708797	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttctagagtgtttgggAttctataaaacaataaagta	14	15	7	5	0	3	1	0	0	3	1	3	2	3	2	0	1	1	2	0	1	8	9			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:197708797A>G	ENST00000354764.4	-	25	2454	c.2340T>C	c.(2338-2340)aaT>aaC	p.N780N		NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AGTGTTTGGGATTCTATAAAA	0.303													G	197708797	A	G	197708797	2	3	626	1	0	0	0	0	0	0	0	1	11854	330	12	3		3	PGAP1	2	197708797	Silent	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	111889931	197708797	45490576	6	51193											
FN1	2335	broad.mit.edu	37	chr2	216288193	216288193	+	Missense_Mutation	SNP	G	G	C																															gtaattgtggttgttgtataGgaaggggaagtggcacaagg																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288193G>C	ENST00000354785.4	-	9	1642	c.1273C>G	c.(1273-1275)Cta>Gta	p.L425V	FN1_ENST00000336916.4_Missense_Mutation_p.L425V|FN1_ENST00000359671.1_Missense_Mutation_p.L425V|FN1_ENST00000346544.3_Missense_Mutation_p.L425V|FN1_ENST00000357009.2_Missense_Mutation_p.L425V|FN1_ENST00000421182.1_Missense_Mutation_p.L425V|FN1_ENST00000446046.1_Missense_Mutation_p.L425V|FN1_ENST00000323926.6_Missense_Mutation_p.L425V|FN1_ENST00000426059.1_Missense_Mutation_p.L425V|FN1_ENST00000432072.2_Missense_Mutation_p.L425V|FN1_ENST00000356005.4_Missense_Mutation_p.L425V|FN1_ENST00000345488.5_Missense_Mutation_p.L425V|FN1_ENST00000357867.4_Missense_Mutation_p.L425V|FN1_ENST00000443816.1_Missense_Mutation_p.L425V			P02751	FINC_HUMAN	fibronectin 1	425	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTGTTGTATAGGAAGGGGAAG	0.463													C	216288193	G	C	216288193	3	2	626	1	0	0	0	0	1	0	0	0	6011	991	35	4	6345	4	FN1	2	216288193	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	18579396	216288193	26911180	7	51194	165	2									
FN1	2335	broad.mit.edu	37	chr2	216288199	216288199	+	Missense_Mutation	SNP	G	G	T																															gtggttgttgtataggaaggGgaagtggcacaaggcaccat																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr2:216288199G>T	ENST00000354785.4	-	9	1636	c.1267C>A	c.(1267-1269)Ccc>Acc	p.P423T	FN1_ENST00000336916.4_Missense_Mutation_p.P423T|FN1_ENST00000359671.1_Missense_Mutation_p.P423T|FN1_ENST00000346544.3_Missense_Mutation_p.P423T|FN1_ENST00000357009.2_Missense_Mutation_p.P423T|FN1_ENST00000421182.1_Missense_Mutation_p.P423T|FN1_ENST00000446046.1_Missense_Mutation_p.P423T|FN1_ENST00000323926.6_Missense_Mutation_p.P423T|FN1_ENST00000426059.1_Missense_Mutation_p.P423T|FN1_ENST00000432072.2_Missense_Mutation_p.P423T|FN1_ENST00000356005.4_Missense_Mutation_p.P423T|FN1_ENST00000345488.5_Missense_Mutation_p.P423T|FN1_ENST00000357867.4_Missense_Mutation_p.P423T|FN1_ENST00000443816.1_Missense_Mutation_p.P423T			P02751	FINC_HUMAN	fibronectin 1	423	Collagen-binding.|Fibronectin type-II 2.				acute-phase response|angiogenesis|leukocyte migration|peptide cross-linking|platelet activation|platelet degranulation|regulation of cell shape|substrate adhesion-dependent cell spreading	ER-Golgi intermediate compartment|fibrinogen complex|platelet alpha granule lumen|proteinaceous extracellular matrix	collagen binding|extracellular matrix structural constituent|heparin binding		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TATAGGAAGGGGAAGTGGCAC	0.463													T	216288199	G	T	216288199	3	4	626	1	0	0	0	0	1	0	0	0	6011	1232	43	4	6351	4	FN1	2	216288199	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	6	216288199	26911174	8	51195	165	2									
RARB	5915	broad.mit.edu	37	chr3	25470378	25470378	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcatcggcacactgctcaAtgtaggtttatttttttccc	8	15	7	11	1	1	0	1	0	0	0	3	0	2	0	1	2	2	5	1	2	3	6			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:25470378A>G	ENST00000330688.4	+	1	577	c.156A>G	c.(154-156)caA>caG	p.Q52Q	RARB_ENST00000404969.1_Intron|RARB_ENST00000437042.2_Intron|RARB_ENST00000462272.1_3'UTR	NM_000965.3	NP_000956.2	P10826	RARB_HUMAN	retinoic acid receptor, beta	0	Modulating.				embryonic digestive tract development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	protein binding|retinoic acid receptor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(3)|kidney(1)|large_intestine(10)|lung(11)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	28					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Etretinate(DB00926)|Tamibarotene(DB04942)|Tazarotene(DB00799)	ACACTGCTCAATGTAGGTTTA	0.433													G	25470378	A	G	25470378	5	3	626	1	0	0	0	0	0	0	1	0	13141	115	4	3	158	3	RARB	3	25470378	Splice_Site	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		25470378	172552052	9	51196											
CELSR3	1951	broad.mit.edu	37	chr3	48678778	48678778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcctctggcgctgggcccGgcccagagaagtctcatccc	5	9	11	16	2	2	1	1	0	2	1	5	2	4	1	4	3	0	1	4	3	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:48678778G>A	ENST00000544264.1	-	34	9299	c.9019C>T	c.(9019-9021)Cgg>Tgg	p.R3007W	CELSR3_ENST00000164024.4_Missense_Mutation_p.R3002W			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	3002					homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CGCTGGGCCCGGCCCAGAGAA	0.652													A	48678778	G	A	48678778	3	1	626	1	0	0	0	0	1	0	0	0	3253	1115	39	1	946	1	CELSR3	3	48678778	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	23208400	48678778	149343652	10	51197											
COPB2	9276	broad.mit.edu	37	chr3	139085462	139085462	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgttcttttggaatggtaGgaaggaccttatcagccatg	9	14	11	7	0	3	0	1	0	2	0	3	3	3	3	2	4	1	2	2	4	4	5			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr3:139085462G>A	ENST00000333188.5	-	15	2013	c.1832C>T	c.(1831-1833)cCt>cTt	p.P611L	COPB2_ENST00000507777.1_Missense_Mutation_p.P582L	NM_004766.2	NP_004757.1	P35606	COPB2_HUMAN	coatomer protein complex, subunit beta 2 (beta prime)	611					COPI coating of Golgi vesicle|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol	protein binding|structural molecule activity			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	24						TGGAATGGTAGGAAGGACCTT	0.398													A	139085462	G	A	139085462	3	1	626	1	0	0	0	0	1	0	0	0	3760	1000	35	2	920	2	COPB2	3	139085462	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	90406684	139085462	58936968	11	51198											
BMPR1B	658	broad.mit.edu	37	chr4	96046194	96046194	+	Frame_Shift_Del	DEL	C	C	-																															ttagaacaggatgaaacttaCattcctcctggagaatccct																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:96046194delC	ENST00000515059.1	+	8	790	c.507delC	c.(505-507)tacfs	p.Y169fs	BMPR1B_ENST00000264568.4_Frame_Shift_Del_p.Y169fs|BMPR1B_ENST00000440890.2_Frame_Shift_Del_p.Y199fs|BMPR1B_ENST00000394931.1_Frame_Shift_Del_p.Y169fs	NM_001203.2	NP_001194.1	O00238	BMR1B_HUMAN	bone morphogenetic protein receptor, type IB	169					BMP signaling pathway|cartilage condensation|eye development|limb morphogenesis|ovarian cumulus expansion|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	receptor complex	ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta receptor activity			breast(3)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.51e-07)		ATGAAACTTACATTCCTCCTG	0.408													-	96046194	C	-	96046194	7	5	626	1	0	1	0	1	0	0	0	0	1476	489	17	0	525	0	BMPR1B	4	96046194	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08		96046194	95108082	12	51199											
DNAJB14	79982	broad.mit.edu	37	chr4	100822294	100822294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacggtatacttttgctgcaTactgcatatctgtttctgtt	7	18	7	9	1	2	0	0	0	2	0	2	0	2	0	0	1	5	6	0	1	4	8			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr4:100822294T>C	ENST00000442697.2	-	8	1185	c.1031A>G	c.(1030-1032)tAt>tGt	p.Y344C		NM_001031723.2|NM_001278310.1	NP_001026893.1|NP_001265239.1	Q8TBM8	DJB14_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 14	344					protein folding	integral to membrane	heat shock protein binding|unfolded protein binding			kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	5				OV - Ovarian serous cystadenocarcinoma(123;4.59e-09)		TTTTGCTGCATACTGCATATC	0.373													C	100822294	T	C	100822294	3	2	626	1	0	0	0	0	1	0	0	0	4658	1406	49	3	112	3	DNAJB14	4	100822294	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	4776100	100822294	90331982	13	51200											
ELL2	22936	broad.mit.edu	37	chr5	95233957	95233961	+	Frame_Shift_Del	DEL	TGGAC	TGGAC	-																															aaaatacctccactggaattTggactggagttatttagctt																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:95233957_95233961delTGGAC	ENST00000237853.4	-	8	1857_1861	c.1508_1512delGTCCA	c.(1507-1512)agtccafs	p.SP503fs	ELL2_ENST00000431061.2_Frame_Shift_Del_p.SP253fs	NM_012081.5	NP_036213.2	O00472	ELL2_HUMAN	elongation factor, RNA polymerase II, 2	503					regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter	transcription elongation factor complex				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	24		all_cancers(142;2.04e-06)|all_epithelial(76;3.1e-09)|all_lung(232;0.00309)|Lung NSC(167;0.00454)|Ovarian(225;0.0165)|Colorectal(57;0.0343)|Breast(839;0.198)		all cancers(79;2.16e-15)		CACTGGAATTTGGACTGGAGTTATT	0.346													-	95233961	TGGAC	-	95233957	7	5	626	1	0	1	0	1	0	0	0	0	5104	1799	63	0	430	0	ELL2	5	95233957	Frame_Shift_Del	DEL	TGGAC	TCGA-HW-A5KK-01A-11D-A27K-08		95233957	85681303	14	51201											
ABLIM3	22885	broad.mit.edu	37	chr5	148617131	148617131	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctcattccagatacatgTccgacgagatgctggagaga	12	8	11	10	2	1	3	1	0	0	3	3	7	3	4	3	1	3	1	3	1	1	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:148617131T>C	ENST00000506113.1	+	10	1491	c.1009T>C	c.(1009-1011)Tcc>Ccc	p.S337P	ABLIM3_ENST00000508983.1_Missense_Mutation_p.S337P|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Intron|RP11-331K21.1_ENST00000512647.2_RNA|RP11-331K21.1_ENST00000522685.1_RNA|ABLIM3_ENST00000309868.7_Missense_Mutation_p.S337P|ABLIM3_ENST00000519549.1_3'UTR|ABLIM3_ENST00000356541.3_Intron|ABLIM3_ENST00000504238.1_Intron			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	337					axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGATACATGTCCGACGAGAT	0.522													C	148617131	T	C	148617131	3	2	626	1	0	0	0	0	1	0	0	0	96	1667	58	3	1047	3	ABLIM3	5	148617131	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	53383174	148617131	32298129	15	51202											
ATP10B	23120	broad.mit.edu	37	chr5	160049524	160049524	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtctgctgtctgacaaGgtctccaaccacagggcagc	9	7	12	13	0	3	1	0	1	3	0	4	1	3	1	2	3	3	3	2	3	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr5:160049524G>T	ENST00000327245.5	-	14	2535	c.1689C>A	c.(1687-1689)acC>acA	p.T563T	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	563					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTGACAAGGTCTCCAACC	0.488													T	160049524	G	T	160049524	2	4	626	1	0	0	0	0	0	0	0	1	1122	987	35	4		4	ATP10B	5	160049524	Silent	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	11432393	160049524	20865736	16	51203											
PKHD1	5314	broad.mit.edu	37	chr6	51897876	51897876	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtcacaataactggatttaAggaagagacatatgtaaatg	18	10	9	4	0	1	1	1	0	0	1	1	4	1	3	0	2	1	1	0	2	7	5			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:51897876A>T	ENST00000371117.3	-	29	3591	c.3316T>A	c.(3316-3318)Tta>Ata	p.L1106I	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1106I	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1106					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					ACTGGATTTAAGGAAGAGACA	0.383													T	51897876	A	T	51897876	3	4	626	1	0	0	0	0	1	0	0	0	12048	69	3	5	9103	5	PKHD1	6	51897876	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		51897876	119217191	17	51204											
MAP7	9053	broad.mit.edu	37	chr6	136710581	136710581	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcctccaacctcttctTccgctcttccaggtgcttct	3	15	5	18	1	4	0	0	0	4	0	8	0	8	0	5	1	3	3	5	1	1	4			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:136710581T>A	ENST00000354570.3	-	4	729	c.319A>T	c.(319-321)Aag>Tag	p.K107*	MAP7_ENST00000438100.2_Nonsense_Mutation_p.K129*|MAP7_ENST00000432797.2_5'UTR|MAP7_ENST00000454590.1_Nonsense_Mutation_p.K129*|MAP7_ENST00000544465.1_Nonsense_Mutation_p.K92*	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	107					establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		AACCTCTTCTTCCGCTCTTCC	0.542													A	136710581	T	A	136710581	4	1	626	1	0	0	0	0	0	1	0	0	9341	1792	62	5	1990	5	MAP7	6	136710581	Nonsense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08	84812705	136710581	34404486	18	51205											
SYNE1	23345	broad.mit.edu	37	chr6	152651648	152651648	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccgcctccccaaggccCgccacctcgtccagaatggc	7	5	8	21	3	0	1	0	0	0	1	4	1	3	1	9	2	0	0	9	2	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:152651648C>T	ENST00000367255.5	-	78	14773	c.14172G>A	c.(14170-14172)gcG>gcA	p.A4724A	SYNE1_ENST00000265368.4_Silent_p.A4724A|SYNE1_ENST00000448038.1_Silent_p.A4653A|SYNE1_ENST00000341594.5_Silent_p.A4471A|SYNE1_ENST00000423061.1_Silent_p.A4653A	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4724					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)		CCCCAAGGCCCGCCACCTCGT	0.552										HNSCC(10;0.0054)			T	152651648	C	T	152651648	2	4	626	1	0	0	0	0	0	0	0	1	15542	639	23	1		1	SYNE1	6	152651648	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	15941067	152651648	18463419	19	51206											
TCP10	6953	broad.mit.edu	37	chr6	167786722	167786722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaattcactcgggaaacCggaccgccggcagtcatctg	10	7	12	12	4	3	0	2	0	1	0	4	3	3	3	3	4	1	1	3	4	2	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr6:167786722C>T	ENST00000397829.4	-	8	1083	c.916G>A	c.(916-918)Ggt>Agt	p.G306S	TCP10_ENST00000366827.2_Intron	NM_004610.3	NP_004601.3	Q12799	TCP10_HUMAN	t-complex 10	333						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CTCGGGAAACCGGACCGCCGG	0.557													T	167786722	C	T	167786722	3	4	626	1	0	0	0	0	1	0	0	0	15810	652	23	1	68	1	TCP10	6	167786722	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	15135074	167786722	3328345	20	51207											
CDK13	8621	broad.mit.edu	37	chr7	40102644	40102644	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatccttggcgaactcttcActaaaaaacctatatttcaa	14	13	4	10	1	3	0	2	0	1	0	4	1	4	0	2	1	2	1	2	1	8	7			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:40102644A>G	ENST00000181839.4	+	9	3330	c.2725A>G	c.(2725-2727)Act>Gct	p.T909A	CDK13_ENST00000484589.1_3'UTR|CDK13_ENST00000340829.5_Missense_Mutation_p.T909A	NM_003718.4|NM_031267.3	NP_003709.3|NP_112557.2	Q14004	CDK13_HUMAN	cyclin-dependent kinase 13	909	Protein kinase.				alternative nuclear mRNA splicing, via spliceosome|hemopoiesis|interspecies interaction between organisms|phosphorylation of RNA polymerase II C-terminal domain|positive regulation of cell proliferation|regulation of mitosis	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(1)|pancreas(2)|prostate(2)|skin(5)|stomach(2)|urinary_tract(1)	49						CGAACTCTTCACTAAAAAACC	0.333													G	40102644	A	G	40102644	3	3	626	1	0	0	0	0	1	0	0	0	3159	159	6	3	2759	3	CDK13	7	40102644	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08		40102644	119036019	21	51208											
POM121L12	285877	broad.mit.edu	37	chr7	53103839	53103839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcccctggacagagagccCgccccgcaggccgccccgcc	6	2	12	21	4	0	1	0	0	0	1	1	4	1	2	9	2	1	1	9	2	0	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr7:53103839C>T	ENST00000408890.4	+	1	491	c.475C>T	c.(475-477)Cgc>Tgc	p.R159C		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	159										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						ACAGAGAgcccgccccgcagg	0.721													T	53103839	C	T	53103839	3	4	626	1	0	0	0	0	1	0	0	0	12318	652	23	1	477	1	POM121L12	7	53103839	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	13001195	53103839	106034824	22	51209											
VDAC3	7419	broad.mit.edu	37	chr8	42259491	42259491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgtcacagaataatttcgCcctgggttacaaggctgcgg	10	10	11	10	2	1	1	1	0	0	1	2	1	1	1	1	3	2	2	1	3	4	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:42259491C>T	ENST00000392935.3	+	7	655	c.512C>T	c.(511-513)gCc>gTc	p.A171V	VDAC3_ENST00000022615.4_Missense_Mutation_p.A170V|VDAC3_ENST00000522572.1_Intron|VDAC3_ENST00000521158.1_Missense_Mutation_p.A171V	NM_001135694.2|NM_005662.6	NP_001129166.1|NP_005653.3	Q9Y277	VDAC3_HUMAN	voltage-dependent anion channel 3	170					adenine transport	mitochondrial outer membrane|pore complex	nucleotide binding|porin activity|protein binding|voltage-gated anion channel activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7	all_cancers(6;3.86e-23)|all_lung(13;6.47e-12)|Lung NSC(13;1.08e-10)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.48e-10)|OV - Ovarian serous cystadenocarcinoma(14;0.00266)|Lung(22;0.00849)|LUSC - Lung squamous cell carcinoma(45;0.024)		Dihydroxyaluminium(DB01375)	AATAATTTCGCCCTGGGTTAC	0.463													T	42259491	C	T	42259491	3	4	626	1	0	0	0	0	1	0	0	0	17250	739	26	2	530	2	VDAC3	8	42259491	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		42259491	104104531	23	51210											
GSDMD	79792	broad.mit.edu	37	chr8	144642132	144642132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctggcagactctgctcCatgagaggtgggcccgaaga	10	6	13	12	1	1	3	0	1	1	3	2	5	2	3	3	3	1	2	3	3	1	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144642132C>T	ENST00000526406.1	+	6	1286	c.403C>T	c.(403-405)Cat>Tat	p.H135Y	GSDMD_ENST00000262580.4_Missense_Mutation_p.H135Y|GSDMD_ENST00000533063.1_Missense_Mutation_p.H183Y	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	135										breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GACTCTGCTCCATGAGAGGTG	0.537													T	144642132	C	T	144642132	3	4	626	1	0	0	0	0	1	0	0	0	6874	594	21	2	409	2	GSDMD	8	144642132	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	102382641	144642132	1721890	24	51211											
GSDMD	79792	broad.mit.edu	37	chr8	144645068	144645068	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcaggactgagccaggagccCcactagcctgtgcccgggca	8	5	13	15	1	1	1	1	1	0	0	1	3	1	3	5	3	4	1	5	3	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr8:144645068C>A	ENST00000526406.1	+	14	2332	c.1449C>A	c.(1447-1449)ccC>ccA	p.P483P	GSDMD_ENST00000262580.4_Silent_p.P483P|GSDMD_ENST00000533063.1_Silent_p.P531P	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	483				SGMLVPELAIPVVYLLGALTMLSETQHKLLAEALESQTLLG PLELVGSLLEQSAPWQERSTMSLPPGLLGNSWGEGAPAWVL LDECGLELGEDTPHVCWEPQAQGRMCALYASLALLSGLSQE P -> PECWCRNSLSLLSTCWG (in Ref. 1; AAG22861).						breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						GCCAGGAGCCCCACTAGCCTG	0.667													A	144645068	C	A	144645068	2	1	626	1	0	0	0	0	0	0	0	1	6874	610	22	4		4	GSDMD	8	144645068	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	2936	144645068	1718954	25	51212											
SLC24A2	25769	broad.mit.edu	37	chr9	19786146	19786146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caatgtagaaagacacatctCgaaagagcggccaccatgtc	15	6	9	11	2	1	3	0	0	1	3	3	4	1	3	2	1	1	1	2	1	4	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:19786146C>G	ENST00000341998.2	-	1	780	c.719G>C	c.(718-720)cGa>cCa	p.R240P	SLC24A2_ENST00000286344.3_Missense_Mutation_p.R240P	NM_001193288.2|NM_020344.3	NP_001180217.1|NP_065077.1	Q9UI40	NCKX2_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 2	240					visual perception	integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33				GBM - Glioblastoma multiforme(1;1.67e-55)|Lung(42;0.0443)		AGACACATCTCGAAAGAGCGG	0.393													G	19786146	C	G	19786146	3	3	626	1	0	0	0	0	1	0	0	0	14560	884	31	4	1306	4	SLC24A2	9	19786146	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19786146	121427285	26	51213											
GLE1	2733	broad.mit.edu	37	chr9	131298722	131298722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgatccgtctctacgctGctatcatccagctccggtgg	6	11	11	13	3	2	1	1	1	1	0	6	2	5	2	3	3	3	3	3	3	2	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr9:131298722G>A	ENST00000309971.4	+	12	1841	c.1735G>A	c.(1735-1737)Gct>Act	p.A579T	GLE1_ENST00000539582.1_Missense_Mutation_p.A325T|RP11-216B9.6_ENST00000434999.1_RNA|GLE1_ENST00000372770.4_Missense_Mutation_p.A579T	NM_001003722.1	NP_001003722.1	Q53GS7	GLE1_HUMAN	GLE1 RNA export mediator	579					poly(A)+ mRNA export from nucleus|protein transport|transmembrane transport	cytoplasm|nuclear pore	protein binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	16						TCTCTACGCTGCTATCATCCA	0.468													A	131298722	G	A	131298722	3	1	626	1	0	0	0	0	1	0	0	0	6491	1319	46	2	1781	2	GLE1	9	131298722	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	111512576	131298722	9914709	27	51214											
NANOS1	340719	broad.mit.edu	37	chr10	120789635	120789637	+	In_Frame_Del	DEL	GAC	GAC	-																															ggccgcccgactacgacgagGacgacgacgacgacagcgac																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr10:120789635_120789637delGAC	ENST00000425699.1	+	1	408_410	c.322_324delGAC	c.(322-324)gacdel	p.D112del		NM_199461.2	NP_955631.1	Q8WY41	NANO1_HUMAN	nanos homolog 1 (Drosophila)	112					epithelial cell migration	perinuclear region of cytoplasm	protein binding|RNA binding|translation repressor activity|zinc ion binding			lung(1)	1		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0193)		ctacgacgaggacgacgacgacg	0.788													-	120789637	GAC	-	120789635	7	5	626	1	0	1	0	1	0	0	0	0	10227	1174	41	0	324	0	NANOS1	10	120789635	In_Frame_Del	DEL	GAC	TCGA-HW-A5KK-01A-11D-A27K-08		120789635	14745112	28	51215											
NAV2	89797	broad.mit.edu	37	chr11	19970369	19970369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcggctccaagcaggagaCgccccctcaatgggcaatgg	9	5	12	15	2	1	1	1	0	0	1	3	2	2	1	4	4	1	3	4	4	3	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:19970369C>T	ENST00000396085.1	+	10	2749	c.2388C>T	c.(2386-2388)gaC>gaT	p.D796D	NAV2_ENST00000360655.4_Silent_p.D732D|NAV2_ENST00000527559.2_Silent_p.D748D|NAV2_ENST00000349880.4_Silent_p.D796D|NAV2_ENST00000540292.1_Silent_p.D750D|NAV2_ENST00000396087.3_Silent_p.D819D	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN	neuron navigator 2	819						nucleus	ATP binding|helicase activity	p.D819D(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AAGCAGGAGACGCCCCCTCAA	0.617													T	19970369	C	T	19970369	2	4	626	1	0	0	0	0	0	0	0	1	10260	535	19	1		1	NAV2	11	19970369	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		19970369	115036147	29	51216											
ADAMTS15	170689	broad.mit.edu	37	chr11	130332501	130332501	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttggcgtgggctcCaagccctgtccttacatgca	5	12	11	13	1	0	0	0	0	0	0	2	0	2	0	3	3	3	3	3	3	2	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr11:130332501C>T	ENST00000299164.2	+	4	1368	c.1368C>T	c.(1366-1368)tcC>tcT	p.S456S		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	456	Disintegrin.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		GCGTGGGCTCCAAGCCCTGTC	0.647													T	130332501	C	T	130332501	2	4	626	1	0	0	0	0	0	0	0	1	260	581	21	2		2	ADAMTS15	11	130332501	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	110362132	130332501	4674015	30	51217											
PRB3	5544	broad.mit.edu	37	chr12	11420209	11420209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccctggggctttccagcggGaggtggcagaggctgctggg	4	8	19	10	1	0	1	0	0	0	1	2	2	2	2	2	7	2	4	2	7	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:11420209G>A	ENST00000381842.3	-	5	884	c.847C>T	c.(847-849)Ccc>Tcc	p.P283S	PRB3_ENST00000279573.7_3'UTR|PRB3_ENST00000538488.1_Missense_Mutation_p.P283S|PRB3_ENST00000440870.3_5'UTR	NM_006249.4	NP_006240.4	Q04118	PRB3_HUMAN	proline-rich protein BstNI subfamily 3	283	Pro-rich.					extracellular region	Gram-negative bacterial cell surface binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(5)	25			OV - Ovarian serous cystadenocarcinoma(49;0.201)			TTTCCAGCGGGAGGTGGCAGA	0.622													A	11420209	G	A	11420209	3	1	626	1	0	0	0	0	1	0	0	0	12530	1174	41	2	86	2	PRB3	12	11420209	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		11420209	122431686	31	51218											
SPRYD3	84926	broad.mit.edu	37	chr12	53468957	53468957	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtagtactgagggaccAgccccacagcaatggtgccc	10	6	12	13	0	0	1	0	1	0	0	0	2	0	2	4	2	5	4	4	2	3	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:53468957A>C	ENST00000301463.4	-	4	379	c.293T>G	c.(292-294)cTg>cGg	p.L98R	SPRYD3_ENST00000547837.1_Missense_Mutation_p.L135R	NM_032840.2	NP_116229.1	Q8NCJ5	SPRY3_HUMAN	SPRY domain containing 3	98	B30.2/SPRY.									central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						CTGAGGGACCAGCCCCACAGC	0.562													C	53468957	A	C	53468957	3	2	626	1	0	0	0	0	1	0	0	0	15205	188	7	5	1067	5	SPRYD3	12	53468957	Missense_Mutation	SNP	A	TCGA-HW-A5KK-01A-11D-A27K-08	42048748	53468957	80382938	32	51219											
MGAT4C	25834	broad.mit.edu	37	chr12	86374059	86374059	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctggaccatggcatcacGccaggaagaattaaagtctg	13	8	10	10	1	2	1	1	0	1	1	3	3	3	3	3	3	0	1	3	3	4	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:86374059G>A	ENST00000604798.1	-	8	1649	c.445C>T	c.(445-447)Cgt>Tgt	p.R149C	MGAT4C_ENST00000552435.2_Intron|MGAT4C_ENST00000393205.2_Missense_Mutation_p.R178C|MGAT4C_ENST00000548651.1_Missense_Mutation_p.R149C|MGAT4C_ENST00000552808.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000549405.2_Missense_Mutation_p.R149C|MGAT4C_ENST00000332156.1_Missense_Mutation_p.R149C			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	149					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATGGCATCACGCCAGGAAGAA	0.398													A	86374059	G	A	86374059	3	1	626	1	0	0	0	0	1	0	0	0	9622	1087	38	1	995	1	MGAT4C	12	86374059	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	32905102	86374059	47477836	33	51220											
NCOR2	9612	broad.mit.edu	37	chr12	124829298	124829298	+	Frame_Shift_Del	DEL	C	C	-																															gggcgccgcgcgcaatggagCcccccgagctgctggcggtc																										TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr12:124829298delC	ENST00000356219.3	-	33	4735	c.4580delG	c.(4579-4581)ggcfs	p.G1527fs	NCOR2_ENST00000429285.2_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404621.1_Frame_Shift_Del_p.G1510fs|NCOR2_ENST00000404121.2_Frame_Shift_Del_p.G1081fs|NCOR2_ENST00000405201.1_Frame_Shift_Del_p.G1520fs|NCOR2_ENST00000397355.1_Frame_Shift_Del_p.G1511fs	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1528					cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		CGCAATGGAGCCCCCCGAGCT	0.706													-	124829298	C	-	124829298	7	5	626	1	0	1	0	1	0	0	0	0	10312	739	26	0	3049	0	NCOR2	12	124829298	Frame_Shift_Del	DEL	C	TCGA-HW-A5KK-01A-11D-A27K-08	38455239	124829298	9022597	34	51221											
OR11H12	440153	broad.mit.edu	37	chr14	19378084	19378084	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaactggtcatactgtgctGggtttgtggatttctgtggt	6	16	13	6	0	2	0	1	0	1	0	2	1	2	1	0	4	3	2	0	4	2	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:19378084G>T	ENST00000550708.1	+	1	563	c.491G>T	c.(490-492)tGg>tTg	p.W164L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	164					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATACTGTGCTGGGTTTGTGGA	0.488													T	19378084	G	T	19378084	3	4	626	1	0	0	0	0	1	0	0	0	11003	1357	47	4	493	4	OR11H12	14	19378084	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		19378084	87971456	35	51222											
SPTB	6710	broad.mit.edu	37	chr14	65239642	65239642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaatcgccccggtctcccGggcaaagtcccggaacttgt	7	7	10	17	4	1	0	0	0	1	0	4	1	2	1	5	3	1	1	5	3	3	1	rs149727354		TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr14:65239642G>A	ENST00000389722.3	-	25	5262	c.5209C>T	c.(5209-5211)Cgg>Tgg	p.R1737W	SPTB_ENST00000556626.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389720.3_Missense_Mutation_p.R1737W|SPTB_ENST00000542895.1_Missense_Mutation_p.R1737W|SPTB_ENST00000389721.5_Missense_Mutation_p.R1737W	NM_001024858.2	NP_001020029.1	P11277	SPTB1_HUMAN	spectrin, beta, erythrocytic	1737					actin filament capping|axon guidance	cell surface|cytosol|intrinsic to internal side of plasma membrane|protein complex|spectrin|spectrin-associated cytoskeleton	actin filament binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(36)|ovary(8)|pancreas(1)|prostate(4)|skin(10)|urinary_tract(3)	106		all_lung(585;4.15e-09)		all cancers(60;4.33e-34)|OV - Ovarian serous cystadenocarcinoma(108;8.32e-20)|BRCA - Breast invasive adenocarcinoma(234;0.0628)		CCGGTCTCCCGGGCAAAGTCC	0.622													A	65239642	G	A	65239642	3	1	626	1	0	0	0	0	1	0	0	0	15214	1115	39	1	1890	1	SPTB	14	65239642	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	45861558	65239642	42109898	36	51223											
FHOD1	29109	broad.mit.edu	37	chr16	67268290	67268290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccgcctcattgggcatggCcccggcaagtgtctctgccc	5	8	11	17	2	2	0	1	0	1	0	3	0	2	0	5	3	1	2	5	3	1	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr16:67268290C>T	ENST00000258201.4	-	12	1652	c.1405G>A	c.(1405-1407)Gcc>Acc	p.A469T		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	469					actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		TTGGGCATGGCCCCGGCAAGT	0.642													T	67268290	C	T	67268290	3	4	626	1	0	0	0	0	1	0	0	0	5931	739	26	2	2133	2	FHOD1	16	67268290	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		67268290	23086463	37	51224											
SLC13A2	9058	broad.mit.edu	37	chr17	26817446	26817446	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactccagggtcttcccgcCgctcagccatgtctccacct	6	9	8	18	2	3	1	1	0	2	1	6	1	5	1	6	1	1	1	6	1	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:26817446C>T	ENST00000444914.3	+	3	773	c.353C>T	c.(352-354)cCg>cTg	p.P118L	SLC13A2_ENST00000537681.1_Intron|SLC13A2_ENST00000314669.5_Intron|SLC13A2_ENST00000545060.1_Intron	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	69						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	GTCTTCCCGCCGCTCAGCCAT	0.612													T	26817446	C	T	26817446	3	4	626	1	0	0	0	0	1	0	0	0	14486	652	23	1	363	1	SLC13A2	17	26817446	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		26817446	54377764	38	51225											
LRRC37B	114659	broad.mit.edu	37	chr17	30349672	30349672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatcttcgcaggattcattgGtgcagtctgaaactgcacca	11	11	9	10	1	3	1	1	1	2	0	4	2	3	2	1	2	3	3	1	2	2	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr17:30349672G>A	ENST00000327564.7	+	1	1649	c.1588G>A	c.(1588-1590)Gtg>Atg	p.V530M	LRRC37B_ENST00000394713.3_Missense_Mutation_p.V503M|LRRC37B_ENST00000543378.2_Missense_Mutation_p.V421M|LRRC37B_ENST00000341671.7_Missense_Mutation_p.V503M|LRRC37B_ENST00000581786.1_3'UTR|LRRC37B_ENST00000584368.1_Missense_Mutation_p.V515M			Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	503						integral to membrane				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				GGATTCATTGGTGCAGTCTGA	0.507													A	30349672	G	A	30349672	3	1	626	1	0	0	0	0	1	0	0	0	9064	1261	44	2	1509	2	LRRC37B	17	30349672	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	3532226	30349672	50845538	39	51226											
ZNF521	25925	broad.mit.edu	37	chr18	22805969	22805969	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgtacttagcaccacatTgattacagatatattctcca	13	14	5	9	0	1	2	0	1	1	1	2	2	1	2	2	0	3	2	2	0	5	7			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:22805969T>G	ENST00000361524.3	-	4	2061	c.1913A>C	c.(1912-1914)cAa>cCa	p.Q638P	ZNF521_ENST00000584787.1_Missense_Mutation_p.Q418P|ZNF521_ENST00000538137.2_Missense_Mutation_p.Q638P	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	638					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					AGCACCACATTGATTACAGAT	0.478			T	PAX5	ALL								G	22805969	T	G	22805969	3	3	626	1	0	0	0	0	1	0	0	0	18066	1812	63	5	2042	5	ZNF521	18	22805969	Missense_Mutation	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		22805969	55271279	40	51227											
SERPINB2	5055	broad.mit.edu	37	chr18	61569789	61569789	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaattgccgatgtgtccaCtggcttggagctggtaagac	9	11	13	8	1	0	2	0	1	0	1	1	4	1	3	2	3	2	3	2	3	2	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr18:61569789C>G	ENST00000457692.1	+	8	1163	c.830C>G	c.(829-831)aCt>aGt	p.T277S	SERPINB2_ENST00000299502.4_Missense_Mutation_p.T277S	NM_001143818.1	NP_001137290.1	P05120	PAI2_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 2	277					anti-apoptosis|blood coagulation|fibrinolysis|regulation of proteolysis	extracellular space|Golgi apparatus|plasma membrane	serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|liver(1)|lung(12)|prostate(2)|skin(2)|stomach(1)	32		Esophageal squamous(42;0.131)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)|Urokinase(DB00013)	GATGTGTCCACTGGCTTGGAG	0.418													G	61569789	C	G	61569789	3	3	626	1	0	0	0	0	1	0	0	0	14194	565	20	4	852	4	SERPINB2	18	61569789	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	38763820	61569789	16507459	41	51228											
ZNF426	79088	broad.mit.edu	37	chr19	9646905	9646905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atgggacaaatcagcagctgCcatcccgcgaggtgagaacg	12	5	13	11	3	1	1	1	1	0	1	2	4	2	2	2	2	4	2	2	2	2	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:9646905C>T	ENST00000535489.1	-	1	340	c.4G>A	c.(4-6)Gca>Aca	p.A2T	ZNF426_ENST00000593003.1_5'UTR|ZNF426_ENST00000253115.2_Missense_Mutation_p.A2T|ZNF426_ENST00000589289.1_Missense_Mutation_p.A2T			Q9BUY5	ZN426_HUMAN	zinc finger protein 426	2					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						TCAGCAGCTGCCATCCCGCGA	0.463													T	9646905	C	T	9646905	3	4	626	1	0	0	0	0	1	0	0	0	18001	739	26	2	1684	2	ZNF426	19	9646905	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08		9646905	49482078	42	51229											
EHD2	30846	broad.mit.edu	37	chr19	48229108	48229108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcgctggttcgcggagcGcgtggacctcatcatcctgc	4	9	14	14	5	2	0	2	0	0	0	4	2	3	2	2	3	3	3	2	3	0	1			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr19:48229108G>A	ENST00000263277.3	+	4	793	c.542G>A	c.(541-543)cGc>cAc	p.R181H	EHD2_ENST00000538399.1_Missense_Mutation_p.R45H|CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_014601.3	NP_055416.2	Q9NZN4	EHD2_HUMAN	EH-domain containing 2	181					blood coagulation|endocytic recycling	nucleus|plasma membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|nucleic acid binding			endometrium(3)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	19		all_cancers(25;6.74e-07)|all_lung(116;2.02e-05)|Lung NSC(112;3.77e-05)|all_epithelial(76;4.89e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		OV - Ovarian serous cystadenocarcinoma(262;0.000336)|all cancers(93;0.000415)|Epithelial(262;0.0132)|GBM - Glioblastoma multiforme(486;0.0537)		TTCGCGGAGCGCGTGGACCTC	0.637													A	48229108	G	A	48229108	3	1	626	1	0	0	0	0	1	0	0	0	5017	1087	38	1	552	1	EHD2	19	48229108	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08	38582203	48229108	10899875	43	51230											
CEP250	11190	broad.mit.edu	37	chr20	34059913	34059913	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaatggaacatgaagcatcTcttagtaggaatgcgcaaga	15	10	10	6	1	1	2	0	1	1	1	2	4	1	4	0	2	3	3	0	2	7	3			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:34059913T>C	ENST00000397527.1	+	11	1707	c.987T>C	c.(985-987)tcT>tcC	p.S329S	CEP250_ENST00000342580.4_Silent_p.S329S	NM_007186.3	NP_009117.2	Q9BV73	CP250_HUMAN	centrosomal protein 250kDa	329					centriole-centriole cohesion|G2/M transition of mitotic cell cycle|protein localization|regulation of centriole-centriole cohesion	centriole|cilium|cytosol|microtubule basal body|perinuclear region of cytoplasm|protein complex	protein C-terminus binding|protein kinase binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(13)|lung(13)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Lung NSC(9;0.00156)|all_lung(11;0.00243)		BRCA - Breast invasive adenocarcinoma(18;0.0106)			ATGAAGCATCTCTTAGTAGGA	0.423													C	34059913	T	C	34059913	2	2	626	1	0	0	0	0	0	0	0	1	3282	1538	54	3		3	CEP250	20	34059913	Silent	SNP	T	TCGA-HW-A5KK-01A-11D-A27K-08		34059913	28965607	44	51231											
YTHDF1	54915	broad.mit.edu	37	chr20	61833842	61833842	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccggagctggttattgggtaCatccttaacaaaaatccact	12	11	8	10	1	0	0	0	0	0	0	2	1	2	1	3	3	3	3	3	3	5	4			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr20:61833842C>T	ENST00000370339.3	-	4	1791	c.1450G>A	c.(1450-1452)Gta>Ata	p.V484I	YTHDF1_ENST00000370334.4_Intron|YTHDF1_ENST00000370333.4_Missense_Mutation_p.V434I	NM_017798.3	NP_060268.2	Q9BYJ9	YTHD1_HUMAN	YTH domain family, member 1	484	YTH.									NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)	24						TTATTGGGTACATCCTTAACA	0.537													T	61833842	C	T	61833842	3	4	626	1	0	0	0	0	1	0	0	0	17600	478	17	2	237	2	YTHDF1	20	61833842	Missense_Mutation	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	27773929	61833842	1191678	45	51232											
LZTR1	8216	broad.mit.edu	37	chr22	21347144	21347144	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacgccatgtacatcttcgGgggcacggtggacaacaaca	11	6	13	11	3	1	0	0	0	1	0	2	2	1	2	1	5	3	2	1	5	3	2			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:21347144G>A	ENST00000215739.8	+	11	1570	c.1211G>A	c.(1210-1212)gGg>gAg	p.G404E	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Missense_Mutation_p.G385E	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	404					anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			TACATCTTCGGGGGCACGGTG	0.652													A	21347144	G	A	21347144	3	1	626	1	0	0	0	0	1	0	0	0	9208	1232	43	2	1253	2	LZTR1	22	21347144	Missense_Mutation	SNP	G	TCGA-HW-A5KK-01A-11D-A27K-08		21347144	29957422	46	51233											
RAC2	5880	broad.mit.edu	37	chr22	37637140	37637140	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgagtctgacaccaacaCgctccctccacgtccgatga	9	8	7	17	3	1	3	0	3	1	0	5	4	5	3	5	0	1	1	5	0	1	0			TCGA-HW-A5KK-01A-11D-A27K-08	TCGA-HW-A5KK-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	90b22eb7-4e33-40b3-876c-70db5f2803d1	255ac70b-b68b-4384-be0e-057217146e1e	g.chr22:37637140C>T	ENST00000401529.3	-	3	273	c.174G>A	c.(172-174)gcG>gcA	p.A58A	RAC2_ENST00000405484.1_Intron|RAC2_ENST00000406508.1_Intron|RAC2_ENST00000249071.6_Intron			P15153	RAC2_HUMAN	ras-related C3 botulinum toxin substrate 2 (rho family, small GTP binding protein Rac2)	0					axon guidance|platelet activation|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	GTP binding|GTPase activity|protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(2)|upper_aerodigestive_tract(1)	12						GACACCAACACGCTCCCTCCA	0.647													T	37637140	C	T	37637140	2	4	626	1	0	0	0	0	0	0	0	1	13063	551	19	1		1	RAC2	22	37637140	Silent	SNP	C	TCGA-HW-A5KK-01A-11D-A27K-08	16289996	37637140	13667426	47	51234											
SLC22A15	55356	broad.mit.edu	37	chr1	116577849	116577849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatggcctaactctgagtgCgggtgatctaggtggaagta	9	12	14	6	1	2	2	0	2	2	0	2	3	2	3	1	4	2	1	1	4	5	4			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:116577849C>T	ENST00000369503.4	+	7	1116	c.986C>T	c.(985-987)gCg>gTg	p.A329V	SLC22A15_ENST00000481127.1_3'UTR	NM_018420.2	NP_060890.2	Q8IZD6	S22AF_HUMAN	solute carrier family 22, member 15	329					ion transport	integral to membrane	transmembrane transporter activity			endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|urinary_tract(1)	17	Lung SC(450;0.184)	all_cancers(81;3.17e-06)|all_epithelial(167;2.32e-06)|all_lung(203;9.81e-06)|Lung NSC(69;5.94e-05)		Lung(183;0.0171)|Colorectal(144;0.0686)|LUSC - Lung squamous cell carcinoma(189;0.0903)|all cancers(265;0.108)|COAD - Colon adenocarcinoma(174;0.111)|Epithelial(280;0.12)		ACTCTGAGTGCGGGTGATCTA	0.453													T	116577849	C	T	116577849	3	4	627	1	0	0	0	0	1	0	0	0	14540	768	27	1	1012	1	SLC22A15	1	116577849	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		116577849	132672772	1	51235											
ASPM	259266	broad.mit.edu	37	chr1	197060134	197060134	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgctatgatatttctgaAtaaatctcttttcttgtaat	11	20	5	5	0	3	3	0	3	3	0	4	3	3	3	0	0	1	2	0	0	6	8			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr1:197060134A>G	ENST00000367409.4	-	23	9738	c.9482T>C	c.(9481-9483)aTt>aCt	p.I3161T	ASPM_ENST00000294732.7_Missense_Mutation_p.I1576T|ASPM_ENST00000367408.1_Missense_Mutation_p.I826T	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3161					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						ATATTTCTGAATAAATCTCTT	0.328													G	197060134	A	G	197060134	3	3	627	1	0	0	0	0	1	0	0	0	1061	101	4	3	975	3	ASPM	1	197060134	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	80482285	197060134	52190487	2	51236											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	627	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		209113112	34086261	3	51237											
GRIP2	80852	broad.mit.edu	37	chr3	14535207	14535207	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactgctggggcctggcgatCggggggcccggctgctgtgt	2	8	20	11	3	0	0	0	0	0	0	1	2	0	0	2	7	2	3	2	7	0	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr3:14535207C>T	ENST00000273083.3	-	0	3162							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission	cytosol|plasma membrane	protein binding			endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						GCCTGGCGATCGGGGGGCCCG	0.672													T	14535207	C	T	14535207	1	4	627	0	1	0	0	0	0	0	0	0	6843	884	31	1		1	GRIP2	3	14535207	RNA	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		14535207	183487223	4	51238											
HGFAC	3083	broad.mit.edu	37	chr4	3443797	3443797	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggccccttcctcctcctcctCctgctgctgctgctgctgcc	0	12	8	21	0	0	0	0	0	0	0	5	0	5	0	8	1	6	5	8	1	0	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr4:3443797C>G	ENST00000382774.3	+	1	184	c.69C>G	c.(67-69)ctC>ctG	p.L23L	HGFAC_ENST00000511533.1_Silent_p.L23L	NM_001528.2	NP_001519.1	Q04756	HGFA_HUMAN	HGF activator	23					proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			central_nervous_system(3)|cervix(1)|endometrium(4)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	22				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		TCCTCCTCCTCCTGCTGCTGC	0.716													G	3443797	C	G	3443797	2	3	627	1	0	0	0	0	0	0	0	1	7141	842	30	4		4	HGFAC	4	3443797	Silent	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		3443797	187710479	5	51239											
SLC6A3	6531	broad.mit.edu	37	chr5	1411405	1411405	+	Frame_Shift_Del	DEL	C	C	-																															catgatgaagaagaccacggCccaggctgaggacagaggga																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:1411405delC	ENST00000270349.9	-	9	1349	c.1222delG	c.(1222-1224)gccfs	p.A408fs	SLC6A3_ENST00000453492.2_Frame_Shift_Del_p.A408fs	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	408					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	AAGACCACGGCCCAGGCTGAG	0.637													-	1411405	C	-	1411405	7	5	627	1	0	1	0	1	0	0	0	0	14779	739	26	0	668	0	SLC6A3	5	1411405	Frame_Shift_Del	DEL	C	TCGA-HW-A5KL-01A-11D-A27K-08		1411405	179503855	6	51240											
ARSK	153642	broad.mit.edu	37	chr5	94918697	94918697	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccatggttaatcttatccGtaacaggactaaagtcagag	13	10	9	9	1	2	1	1	0	1	1	3	2	3	2	2	2	1	2	2	2	5	4			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr5:94918697G>A	ENST00000380009.4	+	4	699	c.494G>A	c.(493-495)cGt>cAt	p.R165H		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	165						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		AATCTTATCCGTAACAGGACT	0.418													A	94918697	G	A	94918697	3	1	627	1	0	0	0	0	1	0	0	0	1001	1145	40	1	508	1	ARSK	5	94918697	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	93507292	94918697	85996563	7	51241											
RUNX2	860	broad.mit.edu	37	chr6	45390466	45390466	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagcagcagcagcagcaAcagcagcagcagcagcagga	15	0	13	13	0	0	0	0	0	0	0	0	1	0	1	0	1	12	11	0	1	1	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr6:45390466A>G	ENST00000371438.1	+	2	553	c.195A>G	c.(193-195)caA>caG	p.Q65Q	RUNX2_ENST00000371432.3_Silent_p.Q51Q|RUNX2_ENST00000359524.5_Silent_p.Q51Q|RUNX2_ENST00000465038.2_Silent_p.Q65Q|RUNX2_ENST00000352853.5_Silent_p.Q133Q|RUNX2_ENST00000371436.6_Silent_p.Q65Q|RUNX2_ENST00000576263.1_Silent_p.Q65Q|RUNX2_ENST00000541979.1_Silent_p.Q133Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	65	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcaacagcagcagc	0.731													G	45390466	A	G	45390466	2	3	627	1	0	0	0	0	0	0	0	1	13839	40	2	3		3	RUNX2	6	45390466	Silent	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08		45390466	125724601	8	51242											
EIF3B	8662	broad.mit.edu	37	chr7	2414229	2414229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacagttcgtggtgttggCgggcctgaggaggtaggtgt	6	10	20	5	2	0	1	0	1	0	0	1	3	0	3	1	7	0	3	1	7	1	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:2414229C>T	ENST00000360876.4	+	13	1933	c.1877C>T	c.(1876-1878)gCg>gTg	p.A626V	EIF3B_ENST00000397011.2_Missense_Mutation_p.A626V	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	626					regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		GTGGTGTTGGCGGGCCTGAGG	0.627													T	2414229	C	T	2414229	3	4	627	1	0	0	0	0	1	0	0	0	5052	768	27	1	1927	1	EIF3B	7	2414229	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		2414229	156724434	9	51243											
FAM180A	389558	broad.mit.edu	37	chr7	135418932	135418932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaggctggcgctgagccggcGgatgtctgggatgctcttgg	4	9	19	9	3	2	1	0	1	2	0	2	4	2	3	1	6	2	3	1	6	0	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr7:135418932G>A	ENST00000338588.3	-	3	578	c.313C>T	c.(313-315)Cgc>Tgc	p.R105C	FAM180A_ENST00000415751.1_Missense_Mutation_p.R105C|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	105						extracellular region				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						CTGAGCCGGCGGATGTCTGGG	0.602													A	135418932	G	A	135418932	3	1	627	1	0	0	0	0	1	0	0	0	5552	1116	39	1	212	1	FAM180A	7	135418932	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	133004703	135418932	23719731	10	51244											
TTC17	55761	broad.mit.edu	37	chr11	43423074	43423074	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcctgtacgctatcatcGtggagatatctttgaaaatg	11	12	9	9	2	2	2	1	1	1	1	3	3	2	2	2	1	2	2	2	1	5	4			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr11:43423074G>A	ENST00000039989.4	+	10	1312	c.1298G>A	c.(1297-1299)cGt>cAt	p.R433H	TTC17_ENST00000526774.1_3'UTR|TTC17_ENST00000299240.6_Missense_Mutation_p.R433H	NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	433							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						CGCTATCATCGTGGAGATATC	0.373													A	43423074	G	A	43423074	3	1	627	1	0	0	0	0	1	0	0	0	16786	1145	40	1	1336	1	TTC17	11	43423074	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		43423074	91583442	11	51245											
IPO8	10526	broad.mit.edu	37	chr12	30827606	30827606	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taattaccgttcaaagagccGagctacaatatgcagtgccc	13	9	8	11	2	1	1	1	0	0	1	1	2	1	1	3	0	6	3	3	0	6	5			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr12:30827606G>A	ENST00000256079.4	-	7	1149	c.811C>T	c.(811-813)Cgg>Tgg	p.R271W	IPO8_ENST00000544829.1_Missense_Mutation_p.R66W	NM_006390.3	NP_006381.2	O15397	IPO8_HUMAN	importin 8	271					intracellular protein transport|signal transduction	cytoplasm|nucleus	protein transporter activity|Ran GTPase binding	p.R271W(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(16)|liver(1)|lung(22)|prostate(2)|skin(2)|urinary_tract(2)	52	all_lung(12;6.66e-10)|Lung NSC(12;4.84e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					TCAAAGAGCCGAGCTACAATA	0.418													A	30827606	G	A	30827606	3	1	627	1	0	0	0	0	1	0	0	0	7856	1057	37	1	2378	1	IPO8	12	30827606	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		30827606	103024289	12	51246											
FANCM	57697	broad.mit.edu	37	chr14	45645153	45645153	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccatctgaaaaaagttgcCtttatgatatacctaatgat	15	14	5	7	0	1	3	0	3	1	0	2	3	2	3	3	0	2	1	3	0	7	6			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:45645153C>G	ENST00000267430.5	+	14	3281	c.3196C>G	c.(3196-3198)Ctt>Gtt	p.L1066V	FANCM_ENST00000542564.2_Missense_Mutation_p.L1040V	NM_020937.2	NP_065988.1	Q8IYD8	FANCM_HUMAN	Fanconi anemia, complementation group M	1066					DNA repair	Fanconi anaemia nuclear complex	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding|nuclease activity|protein binding			breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(31)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	85						AAAAAGTTGCCTTTATGATAT	0.303								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G	45645153	C	G	45645153	3	3	627	1	0	0	0	0	1	0	0	0	5720	681	24	4	3250	4	FANCM	14	45645153	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		45645153	61704387	13	51247											
PPP2R5E	5529	broad.mit.edu	37	chr14	63858726	63858730	+	Frame_Shift_Del	DEL	TACTA	TACTA	-																															ggatctttctccagaaactgTactatacaatatgccagctg																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr14:63858726_63858730delTACTA	ENST00000337537.3	-	9	1465_1469	c.863_867delTAGTA	c.(862-867)atagtafs	p.IV288fs	PPP2R5E_ENST00000422769.2_Frame_Shift_Del_p.IV212fs|PPP2R5E_ENST00000555899.1_Frame_Shift_Del_p.IV288fs|PPP2R5E_ENST00000553266.1_5'UTR	NM_001282179.1|NM_001282180.1|NM_001282181.1|NM_001282182.1|NM_006246.2	NP_001269108.1|NP_001269109.1|NP_001269110.1|NP_001269111.1|NP_006237.1	Q16537	2A5E_HUMAN	protein phosphatase 2, regulatory subunit B', epsilon isoform	288					signal transduction	cytoplasm|intracellular membrane-bounded organelle|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|soft_tissue(1)	15				OV - Ovarian serous cystadenocarcinoma(108;0.00197)|all cancers(60;0.0153)|BRCA - Breast invasive adenocarcinoma(234;0.128)		CCAGAAACTGTACTATACAATATGC	0.293													-	63858730	TACTA	-	63858726	7	5	627	1	0	1	0	1	0	0	0	0	12478	1625	57	0	560	0	PPP2R5E	14	63858726	Frame_Shift_Del	DEL	TACTA	TCGA-HW-A5KL-01A-11D-A27K-08	18213573	63858726	43490814	14	51248											
CRAMP1L	57585	broad.mit.edu	37	chr16	1718033	1718033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggcctctccataccgctgtCctcgtcagagagctccagca	7	9	9	16	2	2	1	1	0	1	1	6	2	4	1	5	1	3	3	5	1	1	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:1718033C>T	ENST00000397412.3	+	18	3272	c.3173C>T	c.(3172-3174)tCc>tTc	p.S1058F	CRAMP1L_ENST00000293925.5_Missense_Mutation_p.S1058F|LA16c-431H6.6_ENST00000454337.1_3'UTR|CRAMP1L_ENST00000262317.4_Missense_Mutation_p.S436F|CRAMP1L_ENST00000436138.3_Missense_Mutation_p.S1055F			Q96RY5	CRML_HUMAN	Crm, cramped-like (Drosophila)	1058						nucleus	DNA binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(6)|pancreas(1)	22						ATACCGCTGTCCTCGTCAGAG	0.602													T	1718033	C	T	1718033	3	4	627	1	0	0	0	0	1	0	0	0	3877	855	30	2	3239	2	CRAMP1L	16	1718033	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		1718033	88636720	15	51249											
XYLT1	64131	broad.mit.edu	37	chr16	17202869	17202869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccattgtgcagcttcagtgCctcctctgaaagccaaaggg	9	9	10	13	0	2	1	1	1	1	0	3	1	3	1	4	1	4	2	4	1	2	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr16:17202869C>T	ENST00000261381.6	-	12	2647	c.2563G>A	c.(2563-2565)Gca>Aca	p.A855T		NM_022166.3	NP_071449.1	Q86Y38	XYLT1_HUMAN	xylosyltransferase I	855					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|extracellular region|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(7)|lung(35)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						AGCTTCAGTGCCTCCTCTGAA	0.562													T	17202869	C	T	17202869	3	4	627	1	0	0	0	0	1	0	0	0	17565	739	26	2	320	2	XYLT1	16	17202869	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	15484836	17202869	73151884	16	51250											
OR1D2	4991	broad.mit.edu	37	chr17	2995927	2995927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagatggccacatagcGgtcatatgccatcacagcca	12	6	10	13	1	2	1	2	0	0	1	2	1	2	1	3	2	4	2	3	2	2	2	rs73300984	byFrequency	TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:2995927G>A	ENST00000331459.1	-	1	363	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C		NM_002548.2	NP_002539.2	P34982	OR1D2_HUMAN	olfactory receptor, family 1, subfamily D, member 2	122					cellular component movement|chemotaxis|protein import into nucleus, translocation|sensory perception of smell|single fertilization	integral to plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(10)|ovary(1)	15						GCCACATAGCGGTCATATGCC	0.537													A	2995927	G	A	2995927	3	1	627	1	0	0	0	0	1	0	0	0	11029	1116	39	1	577	1	OR1D2	17	2995927	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		2995927	78199283	17	51251											
TP53	7157	broad.mit.edu	37	chr17	7577586	7577586	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacacatgtagttgtagtggAtggtggtacagtcagagcca	11	11	13	6	0	1	1	1	0	0	1	1	2	1	2	1	3	3	4	1	3	4	5			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr17:7577586A>C	ENST00000420246.2	-	7	827	c.695T>G	c.(694-696)aTc>aGc	p.I232S	TP53_ENST00000445888.2_Missense_Mutation_p.I232S|TP53_ENST00000359597.4_Missense_Mutation_p.I232S|TP53_ENST00000455263.2_Missense_Mutation_p.I232S|TP53_ENST00000269305.4_Missense_Mutation_p.I232S|TP53_ENST00000413465.2_Missense_Mutation_p.I232S|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	232	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		I -> F (in sporadic cancers; somatic mutation).|I -> L (in sporadic cancers; somatic mutation).|I -> N (in sporadic cancers; somatic mutation).|I -> S (in sporadic cancers; somatic mutation).|I -> T (in sporadic cancers; somatic mutation).|I -> V (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.0?(8)|p.I232T(8)|p.I232N(6)|p.?(5)|p.I232_H233insG(3)|p.I232S(2)|p.T230fs*6(2)|p.C229_H233delCTTIH(2)|p.I232_Y236delIHYNY(1)|p.T230_Y234delTTIHY(1)|p.C229_I232del(1)|p.I139T(1)|p.V225fs*23(1)|p.D228fs*12(1)|p.I139_H140insG(1)|p.I232fs*5(1)|p.S227_I232delSDCTTI(1)|p.I232fs*8(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)		GTTGTAGTGGATGGTGGTACA	0.552		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)			C	7577586	A	C	7577586	3	2	627	1	0	0	0	0	1	0	0	0	16482	333	12	5	595	5	TP53	17	7577586	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	4581659	7577586	73617624	18	51252											
PLVAP	83483	broad.mit.edu	37	chr19	17476154	17476154	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctccatcctgagctGctccgcctccctcttcttct	3	12	7	19	1	3	1	0	1	3	0	7	1	7	1	6	1	3	3	6	1	0	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:17476154G>C	ENST00000252590.4	-	3	1181	c.1120C>G	c.(1120-1122)Cag>Gag	p.Q374E		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	374						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATCCTGAGCTGCTCCGCCTCC	0.622													C	17476154	G	C	17476154	3	2	627	1	0	0	0	0	1	0	0	0	12193	1328	46	4	224	4	PLVAP	19	17476154	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		17476154	41652829	19	51253											
CYP2B6	1555	broad.mit.edu	37	chr19	41515236	41515236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgtggagaagcaccGtgaaaccctggaccccagcg	11	4	12	14	2	0	2	0	1	0	1	0	4	0	3	5	2	3	1	5	2	2	0			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:41515236G>A	ENST00000324071.4	+	5	765	c.758G>A	c.(757-759)cGt>cAt	p.R253H	CYP2B6_ENST00000330446.5_Intron|CYP2B6_ENST00000593831.1_Intron	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	253					cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)	GAGAAGCACCGTGAAACCCTG	0.527													A	41515236	G	A	41515236	3	1	627	1	0	0	0	0	1	0	0	0	4197	1145	40	1	776	1	CYP2B6	19	41515236	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	24039082	41515236	17613747	20	51254											
TMEM143	55260	broad.mit.edu	37	chr19	48837278	48837278	+	Frame_Shift_Del	DEL	T	T	-																															gtcctaccttcgggcgagccTtgagtgccccctggccgccg																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr19:48837278delT	ENST00000293261.3	-	7	1468	c.1152delA	c.(1150-1152)caafs	p.Q384fs	TMEM143_ENST00000435956.3_Frame_Shift_Del_p.Q349fs|TMEM143_ENST00000436660.2_Frame_Shift_Del_p.Q319fs|TMEM143_ENST00000377431.2_Frame_Shift_Del_p.Q284fs|TMEM143_ENST00000541566.1_Frame_Shift_Del_p.Q274fs	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	384						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		CGGGCGAGCCTTGAGTGCCCC	0.751											OREG0025605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	48837278	T	-	48837278	7	5	627	1	0	1	0	1	0	0	0	0	16157	1606	56	0	235	0	TMEM143	19	48837278	Frame_Shift_Del	DEL	T	TCGA-HW-A5KL-01A-11D-A27K-08	7322042	48837278	10291705	21	51255											
ERG	2078	broad.mit.edu	37	chr21	39755828	39755828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaggaggaactgccaaaGctggatctggccactgccta	10	7	11	13	0	1	0	0	0	1	0	2	3	2	3	4	4	4	1	4	4	3	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chr21:39755828G>A	ENST00000442448.1	-	11	1157	c.886C>T	c.(886-888)Ctt>Ttt	p.L296F	ERG_ENST00000453032.2_Missense_Mutation_p.L221F|ERG_ENST00000398897.1_Missense_Mutation_p.L197F|ERG_ENST00000398907.1_Missense_Mutation_p.L290F|ERG_ENST00000398911.1_Missense_Mutation_p.L296F|ERG_ENST00000288319.7_Missense_Mutation_p.L313F|ERG_ENST00000398919.2_Missense_Mutation_p.L320F|ERG_ENST00000398905.1_Missense_Mutation_p.L289F|ERG_ENST00000417133.2_Missense_Mutation_p.L320F|ERG_ENST00000398910.1_Missense_Mutation_p.L297F	NM_004449.4	NP_004440.1	P11308	ERG_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog	320					cell proliferation|multicellular organismal development|protein phosphorylation	cytoplasm|nucleus|ribonucleoprotein complex	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity		EWSR1/ERG(178)|NDRG1/ERG(5)|TMPRSS2/ERG(3582)|FUS/ERG(167)|SLC45A3/ERG(50)	lung(2)|ovary(1)|skin(1)	4		Prostate(19;3.6e-06)				AACTGCCAAAGCTGGATCTGG	0.572			T	"EWSR1, TMPRSS2, ELF4, FUS, HERPUD1, NDRG1"	"Ewing sarcoma, prostate, AML"								A	39755828	G	A	39755828	3	1	627	1	0	0	0	0	1	0	0	0	5263	971	34	2	506	2	ERG	21	39755828	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08		39755828	8374067	22	51256											
EFHC2	80258	broad.mit.edu	37	chrX	44120532	44120532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagtaatccgatgacgcCggatagaagtccctatggca	13	7	12	9	3	0	3	0	1	0	2	2	6	2	4	3	2	0	2	3	2	5	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:44120532C>T	ENST00000420999.1	-	4	478	c.395G>A	c.(394-396)cGg>cAg	p.R132Q		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	132	DM10 1.						calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						CCGATGACGCCGGATAGAAGT	0.413													T	44120532	C	T	44120532	3	4	627	1	0	0	0	0	1	0	0	0	4986	652	23	1	1902	1	EFHC2	23	44120532	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08		44120532	111150028	23	51257											
FAM120C	54954	broad.mit.edu	37	chrX	54209302	54209303	+	In_Frame_Ins	INS	-	-	GGCGGC																															gggccccgggcagctgagggINSggcggcggcggcggcagcgg																										TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:54209302_54209303insGGCGGC	ENST00000375180.2	-	1	385_386	c.329_330insGCCGCC	c.(328-330)ccc>ccGCCGCCc	p.110_110P>PPP	FAM120C_ENST00000328235.4_In_Frame_Ins_p.110_110P>PPP|FAM120C_ENST00000477084.1_In_Frame_Ins_p.110_110P>PPP	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	110										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						GCAGCTGAGGGGGCGGCGGCGG	0.748													GGCGGC	54209303	-	GGCGGC	54209302	7	5	627	1	0	1	1	0	0	0	0	0	5463	1219	43	0	3046	0	FAM120C	23	54209302	In_Frame_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	10088770	54209302	101061258	24	51258											
ALAS2	212	broad.mit.edu	37	chrX	55052378	55052378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgcctaggaggcttGtggggccccgggcaagcact	6	7	14	14	1	0	0	0	0	0	0	0	1	0	1	5	5	2	3	5	5	2	3			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:55052378G>A	ENST00000330807.5	-	2	193	c.56C>T	c.(55-57)aCa>aTa	p.T19I	ALAS2_ENST00000396198.3_Missense_Mutation_p.T43I|ALAS2_ENST00000335854.4_Missense_Mutation_p.T19I	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	19					cellular iron ion homeostasis|erythrocyte differentiation|heme biosynthetic process|hemoglobin biosynthetic process|oxygen homeostasis|response to hypoxia	mitochondrial inner membrane|mitochondrial matrix	5-aminolevulinate synthase activity|coenzyme binding|glycine binding|protein binding|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TAGGAGGCTTGTGGGGCCCCG	0.542													A	55052378	G	A	55052378	3	1	627	1	0	0	0	0	1	0	0	0	485	1377	48	2	1747	2	ALAS2	23	55052378	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	843076	55052378	100218182	25	51259											
UBQLN2	29978	broad.mit.edu	37	chrX	56590705	56590705	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgactcccaggagtaactcCacacctatttccacaaatag	13	9	5	14	1	0	0	0	0	0	0	4	2	3	1	4	1	1	1	4	1	4	4			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:56590705C>T	ENST00000338222.5	+	1	680	c.399C>T	c.(397-399)tcC>tcT	p.S133S		NM_013444.3	NP_038472.2	Q9UHD9	UBQL2_HUMAN	ubiquilin 2	133						cytoplasm|nucleus|plasma membrane	binding			breast(2)|endometrium(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)	21						GGAGTAACTCCACACCTATTT	0.572													T	56590705	C	T	56590705	2	4	627	1	0	0	0	0	0	0	0	1	16999	581	21	2		2	UBQLN2	23	56590705	Silent	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	1538327	56590705	98679855	26	51260											
RLIM	51132	broad.mit.edu	37	chrX	73812199	73812200	+	Frame_Shift_Ins	INS	-	-	G																															gaagatcaaggactatggttINSggaggtctctgtcctgatcc																								rs61752449		TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:73812199_73812200insG	ENST00000332687.6	-	4	1168_1169	c.950_951insC	c.(949-951)ccafs	p.P317fs	RLIM_ENST00000349225.2_Frame_Shift_Ins_p.P317fs	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	317					random inactivation of X chromosome|transcription, DNA-dependent|ubiquitin-dependent protein catabolic process	cytoplasm|transcriptional repressor complex	transcription corepressor activity|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GGACTATGGTTGGAGGTCTCTG	0.48													G	73812200	-	G	73812199	7	5	627	1	0	1	1	0	0	0	0	0	13481	1799	63	0	927	0	RLIM	23	73812199	Frame_Shift_Ins	INS	-	TCGA-HW-A5KL-01A-11D-A27K-08	17221494	73812199	81458361	27	51261											
ATRX	546	broad.mit.edu	37	chrX	76939961	76939961	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgacaaatgtagcaataccAttggttgttttcatccatta	12	15	7	7	0	1	1	1	1	0	0	2	1	2	1	2	1	2	4	2	1	5	7			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:76939961A>G	ENST00000373344.5	-	9	1001	c.787T>C	c.(787-789)Tgg>Cgg	p.W263R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.W225R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD.				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)	TAGCAATACCATTGGTTGTTT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76939961	A	G	76939961	3	3	627	1	0	0	0	0	1	0	0	0	1213	217	8	3	6799	3	ATRX	23	76939961	Missense_Mutation	SNP	A	TCGA-HW-A5KL-01A-11D-A27K-08	3127762	76939961	78330599	28	51262											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299672	125299672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctcgggcagcctctggacgGcgtagccccgcagctcgccc	4	5	14	18	5	1	0	0	0	1	0	3	1	1	1	4	3	3	5	4	3	1	1			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:125299672G>A	ENST00000538699.1	-	2	316	c.236C>T	c.(235-237)gCc>gTc	p.A79V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A79V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	79										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCTCTGGACGGCGTAGCCCCG	0.706													A	125299672	G	A	125299672	3	1	627	1	0	0	0	0	1	0	0	0	4299	1203	42	2	1159	2	DCAF12L2	23	125299672	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	48359711	125299672	29970888	29	51263											
SPANXD	64648	broad.mit.edu	37	chrX	140785839	140785839	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtacccactcgaggtctccGgcatctgttaagaaaacagg	12	8	10	11	2	2	1	0	0	2	1	4	2	2	1	2	3	2	3	2	3	4	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:140785839G>A	ENST00000370515.3	-	2	410	c.77C>T	c.(76-78)cCg>cTg	p.P26L		NM_032417.2|NM_145665.1	NP_115793.1|NP_663698.1			SPANX family, member D											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	9	Acute lymphoblastic leukemia(192;7.65e-05)					CGAGGTCTCCGGCATCTGTTA	0.493													A	140785839	G	A	140785839	3	1	627	1	0	0	0	0	1	0	0	0	15084	1116	39	1	220	1	SPANXD	23	140785839	Missense_Mutation	SNP	G	TCGA-HW-A5KL-01A-11D-A27K-08	15486167	140785839	14484721	30	51264											
PLXNB3	5365	broad.mit.edu	37	chrX	153039467	153039467	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggccagggcttcctgtacCagcccaacccccgcctggca	6	5	12	18	1	0	0	0	0	0	0	1	0	1	0	7	4	3	3	7	4	2	2			TCGA-HW-A5KL-01A-11D-A27K-08	TCGA-HW-A5KL-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c6e34202-c506-416d-bc41-de772c33295e	31928eee-d7e5-4671-950d-0defa8244100	g.chrX:153039467C>A	ENST00000538966.1	+	21	3773	c.3502C>A	c.(3502-3504)Cag>Aag	p.Q1168K	PLXNB3_ENST00000361971.5_Missense_Mutation_p.Q1145K|PLXNB3_ENST00000538282.1_Missense_Mutation_p.Q755K|PLXNB3_ENST00000538776.1_Missense_Mutation_p.Q798K	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	1145	IPT/TIG 4.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCCTGTACCAGCCCAACCC	0.672													A	153039467	C	A	153039467	3	1	627	1	0	0	0	0	1	0	0	0	12202	595	21	4	3625	4	PLXNB3	23	153039467	Missense_Mutation	SNP	C	TCGA-HW-A5KL-01A-11D-A27K-08	12253628	153039467	2231093	31	51265											
SYCP1	6847	broad.mit.edu	37	chr1	115453058	115453058	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgaaaataaacaatttgAgaagattgctgaagaattaa	21	11	7	2	0	0	5	0	3	0	3	0	6	0	5	0	0	2	1	0	0	10	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:115453058A>G	ENST00000369522.3	+	17	1601	c.1361A>G	c.(1360-1362)gAg>gGg	p.E454G	SYCP1_ENST00000369518.1_Missense_Mutation_p.E454G	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	454					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AAACAATTTGAGAAGATTGCT	0.284													G	115453058	A	G	115453058	3	3	628	1	0	0	0	0	1	0	0	0	15528	304	11	3	1423	3	SYCP1	1	115453058	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		115453058	133797563	1	51266											
TADA1	117143	broad.mit.edu	37	chr1	166831463	166831463	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagcatagacaacagctgAaacagcctcctcggtgacat	14	6	8	13	1	0	3	0	2	0	1	2	3	1	3	2	1	5	2	2	1	3	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr1:166831463A>C	ENST00000367874.4	-	5	610	c.517T>G	c.(517-519)Tca>Gca	p.S173A	TADA1_ENST00000467021.1_5'UTR	NM_053053.3	NP_444281.1	Q96BN2	TADA1_HUMAN	transcriptional adaptor 1	173					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)	11						ACAACAGCTGAAACAGCCTCC	0.468													C	166831463	A	C	166831463	3	2	628	1	0	0	0	0	1	0	0	0	15606	246	9	5	506	5	TADA1	1	166831463	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08	51378405	166831463	82419158	2	51267											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	628	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		209113112	34086261	3	51268											
TIGIT	201633	broad.mit.edu	37	chr3	114014405	114014405	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctaggaatgatgacaggCacaatagaaacaacggggaa	17	5	11	8	1	0	3	0	2	0	1	1	5	1	5	1	4	2	1	1	4	7	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr3:114014405C>G	ENST00000481065.1	+	3	2891	c.276C>G	c.(274-276)ggC>ggG	p.G92G	TIGIT_ENST00000383671.3_Silent_p.G25G|TIGIT_ENST00000486257.1_Silent_p.G25G			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	25	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						TGATGACAGGCACAATAGAAA	0.502													G	114014405	C	G	114014405	2	3	628	1	0	0	0	0	0	0	0	1	16002	697	25	4		4	TIGIT	3	114014405	Silent	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		114014405	84008025	4	51269											
ENPEP	2028	broad.mit.edu	37	chr4	111464025	111464025	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggactcgatagctacagcGctctccttgaaccacaaggt	10	9	10	12	2	1	1	0	1	1	0	3	3	1	2	2	2	4	2	2	2	4	3			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr4:111464025G>A	ENST00000265162.5	+	12	2268	c.1926G>A	c.(1924-1926)gcG>gcA	p.A642A		NM_001977.3	NP_001968.3	Q07075	AMPE_HUMAN	glutamyl aminopeptidase (aminopeptidase A)	642					cell migration|cell proliferation|cell-cell signaling|proteolysis	integral to plasma membrane	aminopeptidase activity|metalloexopeptidase activity|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(12)|lung(22)|ovary(1)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(1)	54		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.0031)	L-Glutamic Acid(DB00142)	TAGCTACAGCGCTCTCCTTGA	0.343													A	111464025	G	A	111464025	2	1	628	1	0	0	0	0	0	0	0	1	5169	1074	38	1		1	ENPEP	4	111464025	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		111464025	79690251	5	51270											
LAMB4	22798	broad.mit.edu	37	chr7	107692592	107692592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaaatcaatttcttcctgaAggtcttcaagtaagaggtct	12	13	8	8	0	5	2	2	1	3	1	6	2	6	2	1	2	0	2	1	2	5	4			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:107692592A>G	ENST00000388781.3	-	26	3949	c.3866T>C	c.(3865-3867)cTt>cCt	p.L1289P	LAMB4_ENST00000388780.3_Missense_Mutation_p.L1289P|LAMB4_ENST00000205386.4_Missense_Mutation_p.L1289P	NM_007356.2	NP_031382.2	A4D0S4	LAMB4_HUMAN	laminin, beta 4	1289	Domain II.				cell adhesion	basement membrane				NS(1)|breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(22)|lung(40)|ovary(4)|prostate(5)|skin(4)	97						TTCTTCCTGAAGGTCTTCAAG	0.363													G	107692592	A	G	107692592	3	3	628	1	0	0	0	0	1	0	0	0	8672	72	3	3	1455	3	LAMB4	7	107692592	Missense_Mutation	SNP	A	TCGA-HW-A5KM-01A-11D-A27K-08		107692592	51446071	6	51271											
IFRD1	3475	broad.mit.edu	37	chr7	112112895	112112897	+	In_Frame_Del	DEL	GAA	GAA	-																															gctgcaacgcttaaaacgatGaagatttctcgtttcgaaag																										TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr7:112112895_112112897delGAA	ENST00000403825.3	+	11	1506_1508	c.1245_1247delGAA	c.(1243-1248)atgaag>atg	p.K416del	IFRD1_ENST00000535603.1_In_Frame_Del_p.K366del|IFRD1_ENST00000005558.4_In_Frame_Del_p.K416del	NM_001550.3	NP_001541.2	O00458	IFRD1_HUMAN	interferon-related developmental regulator 1	416					multicellular organismal development|myoblast cell fate determination		binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(5)|urinary_tract(1)	15						TTAAAACGATGAAGATTTCTCGT	0.374													-	112112897	GAA	-	112112895	7	5	628	1	0	1	0	1	0	0	0	0	7611	1290	45	0	1287	0	IFRD1	7	112112895	In_Frame_Del	DEL	GAA	TCGA-HW-A5KM-01A-11D-A27K-08	4420303	112112895	47025768	7	51272											
ZNF169	169841	broad.mit.edu	37	chr9	97063233	97063233	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtgccctgattgtgggCgtggctttggtcagaaggtc	5	12	15	9	1	1	2	1	1	0	1	2	2	1	2	2	4	1	1	2	4	1	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr9:97063233C>T	ENST00000395395.2	+	5	1483	c.1393C>T	c.(1393-1395)Cgt>Tgt	p.R465C	ZNF169_ENST00000340911.4_3'UTR	NM_194320.2	NP_919301.2	Q14929	ZN169_HUMAN	zinc finger protein 169	465						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	24		Acute lymphoblastic leukemia(62;0.136)				TGATTGTGGGCGTGGCTTTGG	0.577													T	97063233	C	T	97063233	3	4	628	1	0	0	0	0	1	0	0	0	17843	768	27	1	1407	1	ZNF169	9	97063233	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		97063233	44150198	8	51273											
SLC6A5	9152	broad.mit.edu	37	chr11	20628628	20628628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cttcttggaggtgtcgctggGccagtttgccagccagggac	5	10	15	11	1	1	0	0	0	1	0	2	2	1	2	3	4	2	2	3	4	0	3			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr11:20628628G>A	ENST00000525748.1	+	4	1028	c.755G>A	c.(754-756)gGc>gAc	p.G252D		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	252					synaptic transmission	integral to membrane|plasma membrane	glycine:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	GTGTCGCTGGGCCAGTTTGCC	0.567													A	20628628	G	A	20628628	3	1	628	1	0	0	0	0	1	0	0	0	14781	1203	42	2	769	2	SLC6A5	11	20628628	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		20628628	114377888	9	51274											
TPTE2	93492	broad.mit.edu	37	chr13	20077367	20077367	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtatgcataactcaccttTcattcatacgtgcctctggg	9	14	7	11	1	4	0	3	0	1	0	4	0	4	0	2	1	4	2	2	1	3	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:20077367T>C	ENST00000400230.2	-	1	52	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE2_ENST00000382975.4_Missense_Mutation_p.E3G|TPTE2_ENST00000382977.4_Missense_Mutation_p.E3G|TPTE2_ENST00000457266.2_Missense_Mutation_p.E3G|TPTE2_ENST00000382978.1_Missense_Mutation_p.E3G|TPTE2_ENST00000400103.2_Missense_Mutation_p.E3G|TPTE2_ENST00000255310.6_Missense_Mutation_p.E3G|TPTE2_ENST00000390680.2_Missense_Mutation_p.E3G			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	3						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		AACTCACCTTTCATTCATACG	0.368													C	20077367	T	C	20077367	3	2	628	1	0	0	0	0	1	0	0	0	16532	1783	62	3	1640	3	TPTE2	13	20077367	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08		20077367	95092511	10	51275											
ABCC4	10257	broad.mit.edu	37	chr13	95840746	95840746	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccacagctaacaattcGccaggtctgacagtaaagga	14	6	9	12	2	1	1	0	1	1	0	2	3	1	2	3	2	2	2	3	2	4	3	rs150945397		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr13:95840746G>A	ENST00000376887.4	-	10	1428	c.1314C>T	c.(1312-1314)ggC>ggT	p.G438G	ABCC4_ENST00000431522.1_Silent_p.G438G|ABCC4_ENST00000538287.1_3'UTR|ABCC4_ENST00000412704.1_Silent_p.G438G|ABCC4_ENST00000536256.1_Silent_p.G363G	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	438	ABC transporter 1.				platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	CTAACAATTCGCCAGGTCTGA	0.453													A	95840746	G	A	95840746	2	1	628	1	0	0	0	0	0	0	0	1	55	1074	38	1		1	ABCC4	13	95840746	Silent	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	75763379	95840746	19329132	11	51276											
ATP10A	57194	broad.mit.edu	37	chr15	25963417	25963417	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgccggtgggacttggtgCtctgggttctgtgcaccacc	3	11	15	12	2	2	0	0	0	2	0	2	1	2	1	3	4	3	3	3	4	0	2			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr15:25963417C>G	ENST00000356865.6	-	8	1604	c.1493G>C	c.(1492-1494)aGc>aCc	p.S498T		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	498					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGACTTGGTGCTCTGGGTTCT	0.687													G	25963417	C	G	25963417	3	3	628	1	0	0	0	0	1	0	0	0	1121	797	28	4	3062	4	ATP10A	15	25963417	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		25963417	76567975	12	51277											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	628	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08		7577121	73618089	13	51278											
TBC1D3B	414059	broad.mit.edu	37	chr17	34499227	34499227	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcttacttggttccgtatcGatccctgaagaacatatgct	9	13	9	10	2	0	2	0	1	0	1	3	3	2	2	2	2	3	4	2	2	5	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:34499227G>A	ENST00000454519.3	-	7	633	c.484C>T	c.(484-486)Cga>Tga	p.R162*	CTB-91J4.1_ENST00000592460.1_RNA|TBC1D3B_ENST00000398801.3_Nonsense_Mutation_p.R162*	NM_001001417.5	NP_001001417.5	A6NDS4	TBC3B_HUMAN	TBC1 domain family, member 3B	162	Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(2)|lung(3)|pancreas(1)	6		Breast(25;0.102)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTCCGTATCGATCCCTGAAG	0.562													A	34499227	G	A	34499227	4	1	628	1	0	0	0	0	0	1	0	0	15718	1066	37	1	1197	1	TBC1D3B	17	34499227	Nonsense_Mutation	SNP	G	TCGA-HW-A5KM-01A-11D-A27K-08	26922106	34499227	46695983	14	51279											
FMNL1	752	broad.mit.edu	37	chr17	43323638	43323640	+	In_Frame_Del	DEL	AGA	AGA	-																															tgagctgaaacggaggcagcAgaaggagccactcatttatg																										TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr17:43323638_43323640delAGA	ENST00000331495.3	+	25	3488_3490	c.3152_3154delAGA	c.(3151-3156)cagaag>cag	p.K1052del	FMNL1_ENST00000587489.1_In_Frame_Del_p.K630del|FMNL1_ENST00000328118.3_In_Frame_Del_p.K1052del|CTD-2020K17.4_ENST00000420431.2_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	1052					actin cytoskeleton organization		actin binding|Rho GTPase binding			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						CGGAGGCAGCAGAAGGAGCCACT	0.567													-	43323640	AGA	-	43323638	7	5	628	1	0	1	0	1	0	0	0	0	6000	188	7	0	3250	0	FMNL1	17	43323638	In_Frame_Del	DEL	AGA	TCGA-HW-A5KM-01A-11D-A27K-08	8824411	43323638	37871572	15	51280											
FIZ1	84922	broad.mit.edu	37	chr19	56109002	56109002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagagcagcggtagggcCgctccccggtgtgcgagcgc	6	4	18	13	5	0	1	0	0	0	1	1	2	1	1	3	4	4	4	3	4	1	1			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr19:56109002C>T	ENST00000221665.3	-	2	319	c.230G>A	c.(229-231)cGg>cAg	p.R77Q	FIZ1_ENST00000592585.1_Intron	NM_032836.2	NP_116225.2	Q96SL8	FIZ1_HUMAN	FLT3-interacting zinc finger 1	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein kinase binding|receptor binding|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)	11			BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		GCGGTAGGGCCGCTCCCCGGT	0.692													T	56109002	C	T	56109002	3	4	628	1	0	0	0	0	1	0	0	0	5949	652	23	1	1268	1	FIZ1	19	56109002	Missense_Mutation	SNP	C	TCGA-HW-A5KM-01A-11D-A27K-08		56109002	3019981	16	51281											
TPTE	7179	broad.mit.edu	37	chr21	10973726	10973726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtacgcataactcaccttTcattcatacgtgcctctggg	9	12	7	13	3	4	0	3	0	1	0	4	0	4	0	2	1	4	2	2	1	3	5			TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chr21:10973726T>C	ENST00000298232.7	-	4	375	c.8A>G	c.(7-9)gAa>gGa	p.E3G	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Missense_Mutation_p.E3G|TPTE_ENST00000342420.5_Missense_Mutation_p.E3G	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	3					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AACTCACCTTTCATTCATACG	0.378													C	10973726	T	C	10973726	3	2	628	1	0	0	0	0	1	0	0	0	16531	1783	62	3	1731	3	TPTE	21	10973726	Missense_Mutation	SNP	T	TCGA-HW-A5KM-01A-11D-A27K-08		10973726	37156169	17	51282											
ATRX	546	broad.mit.edu	37	chrX	76937664	76937697	+	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-																															atttgttttatgcccttaggAaaatgacaaatttcttctcg																										TCGA-HW-A5KM-01A-11D-A27K-08	TCGA-HW-A5KM-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	326e0c99-d749-4f8f-8edd-1d0a5c82e07e	c9aec61a-d7df-402c-9734-1e35cd5f6c43	g.chrX:76937664_76937697delAAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	ENST00000373344.5	-	9	3265_3298	c.3051_3084delAAAGTTACCTGAGCGAGAAGAAATTTGTCATTTT	c.(3049-3084)gaaaagttacctgagcgagaagaaatttgtcattttfs	p.EKLPEREEICHF1017fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.EKLPEREEICHF979fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1017					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)	TGCCCTTAGGAAAATGACAAATTTCTTCTCGCTCAGGTAACTTTTCAGTGCCAT	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937697	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	-	76937664	7	5	628	1	0	1	0	1	0	0	0	0	1213	243	9	0	4502	0	ATRX	23	76937664	Frame_Shift_Del	DEL	AAAATGACAAATTTCTTCTCGCTCAGGTAACTTT	TCGA-HW-A5KM-01A-11D-A27K-08		76937664	78332896	18	51283											
NOTCH2	4853	broad.mit.edu	37	chr1	120468319	120468319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggcacagcctgactcgcAgtcccggggactggggcaga	8	5	15	13	2	0	2	0	1	0	1	2	3	1	3	2	5	1	3	2	5	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:120468319A>T	ENST00000256646.2	-	25	4339	c.4120T>A	c.(4120-4122)Tgc>Agc	p.C1374S		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	1374	EGF-like 35.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCTGACTCGCAGTCCCGGGGA	0.642			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome				T	120468319	A	T	120468319	3	4	629	1	0	0	0	0	1	0	0	0	10624	188	7	5	3335	5	NOTCH2	1	120468319	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		120468319	128782302	1	51284											
SFT2D2	375035	broad.mit.edu	37	chr1	168205989	168205989	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacttatcttctgcattttgCagtctttggcattgacgtgg	6	17	9	9	1	3	1	0	1	3	0	3	1	3	1	0	2	2	3	0	2	1	6			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:168205989C>T	ENST00000271375.4	+	6	466	c.394C>T	c.(394-396)Cag>Tag	p.Q132*	SFT2D2_ENST00000367825.3_Silent_p.C104C|SFT2D2_ENST00000471981.1_3'UTR|SFT2D2_ENST00000367829.1_Silent_p.C104C	NM_199344.2	NP_955376.1	O95562	SFT2B_HUMAN	SFT2 domain containing 2						protein transport|vesicle-mediated transport	integral to membrane				lung(3)|skin(1)	4	all_hematologic(923;0.215)					CTGCATTTTGCAGTCTTTGGC	0.403													T	168205989	C	T	168205989	4	4	629	1	0	0	0	0	0	1	0	0	14279	711	25	2	416	2	SFT2D2	1	168205989	Nonsense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	47737670	168205989	81044632	2	51285											
TPR	7175	broad.mit.edu	37	chr1	186292829	186292829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttttaatacctgaactggtgGtcccaactcctgaggtgggg	8	12	12	9	0	0	2	0	2	0	0	2	2	2	2	3	5	3	0	3	5	4	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:186292829G>A	ENST00000367478.4	-	43	6582	c.6286C>T	c.(6286-6288)Cca>Tca	p.P2096S		NM_003292.2	NP_003283.2	P12270	TPR_HUMAN	translocated promoter region, nuclear basket protein						carbohydrate metabolic process|glucose transport|mitotic cell cycle spindle assembly checkpoint|mRNA transport|protein import into nucleus|regulation of glucose transport|seryl-tRNA aminoacylation|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytoplasm|nuclear membrane|nuclear pore|nucleoplasm	ATP binding|protein binding|serine-tRNA ligase activity			autonomic_ganglia(1)|breast(5)|central_nervous_system(4)|cervix(2)|endometrium(9)|kidney(12)|large_intestine(23)|liver(1)|lung(45)|ovary(2)|pancreas(1)|prostate(6)|skin(3)|stomach(1)|urinary_tract(8)	123		Breast(1374;0.000659)|Lung SC(1967;0.0262)|Prostate(1639;0.157)		Colorectal(1306;1.12e-05)|KIRC - Kidney renal clear cell carcinoma(1967;0.00553)		TGAACTGGTGGTCCCAACTCC	0.463			T	NTRK1	papillary thyroid								A	186292829	G	A	186292829	3	1	629	1	0	0	0	0	1	0	0	0	16517	1261	44	2	841	2	TPR	1	186292829	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	18086840	186292829	62957792	3	51286											
SPATA17	128153	broad.mit.edu	37	chr1	217915355	217915355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaaatgaaagaaagagAagagaagaaggctaacctcg	20	4	12	5	1	0	6	0	1	0	5	1	8	0	6	1	1	2	2	1	1	7	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:217915355A>G	ENST00000366933.4	+	6	489	c.434A>G	c.(433-435)gAa>gGa	p.E145G		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	145						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AAAGAAAGAGAAGAGAAGAAG	0.403													G	217915355	A	G	217915355	3	3	629	1	0	0	0	0	1	0	0	0	15098	246	9	3	456	3	SPATA17	1	217915355	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	31622526	217915355	31335266	4	51287											
TRIM58	25893	broad.mit.edu	37	chr1	248039522	248039522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agtacatggtccttgcctccCcatcagtgcctcttctccaa	7	12	6	16	0	3	0	1	0	2	0	6	0	5	0	6	1	3	1	6	1	2	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248039522C>T	ENST00000366481.3	+	6	1240	c.1192C>T	c.(1192-1194)Cca>Tca	p.P398S	OR2W3_ENST00000537741.1_Intron	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	398	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTTGCCTCCCCATCAGTGCC	0.512													T	248039522	C	T	248039522	3	4	629	1	0	0	0	0	1	0	0	0	16632	623	22	2	1214	2	TRIM58	1	248039522	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	30124167	248039522	1211099	5	51288											
OR2L2	26246	broad.mit.edu	37	chr1	248202456	248202456	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctgagaaacaaggaggTgatgggggccctgacacaag	13	4	15	9	0	0	3	0	3	0	1	0	5	0	4	2	4	2	0	2	4	3	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr1:248202456T>C	ENST00000366479.2	+	1	983	c.887T>C	c.(886-888)gTg>gCg	p.V296A	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	296					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			AACAAGGAGGTGATGGGGGCC	0.463													C	248202456	T	C	248202456	3	2	629	1	0	0	0	0	1	0	0	0	11083	1696	59	3	889	3	OR2L2	1	248202456	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	162934	248202456	1048165	6	51289											
COL5A2	1290	broad.mit.edu	37	chr2	189933563	189933563	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggcccagtttcacctctctgCccctgaggaccttcagggcc	5	9	10	17	0	3	1	2	1	1	0	4	2	3	2	6	3	1	1	6	3	0	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:189933563C>T	ENST00000374866.3	-	19	1480	c.1206G>A	c.(1204-1206)ggG>ggA	p.G402G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	402					axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent			NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CACCTCTCTGCCCCTGAGGAC	0.502													T	189933563	C	T	189933563	2	4	629	1	0	0	0	0	0	0	0	1	3728	726	26	2		2	COL5A2	2	189933563	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		189933563	53265810	7	51290											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	629	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	19179549	209113112	34086261	8	51291											
IRS1	3667	broad.mit.edu	37	chr2	227661149	227661149	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctgggtgtgcttaaaggatCttggcaatgagtagtaggag	10	11	16	4	0	1	1	0	1	1	0	1	3	1	3	0	4	1	5	0	4	5	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr2:227661149C>T	ENST00000305123.5	-	1	3326	c.2306G>A	c.(2305-2307)aGa>aAa	p.R769K		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CTTAAAGGATCTTGGCAATGA	0.627													T	227661149	C	T	227661149	3	4	629	1	0	0	0	0	1	0	0	0	7898	913	32	2	1426	2	IRS1	2	227661149	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	18548037	227661149	15538224	9	51292											
SCN10A	6336	broad.mit.edu	37	chr3	38768259	38768259	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccctggggcctctgggagcTtggagccctccagagctccc	4	8	13	16	0	1	1	0	0	1	1	4	3	4	3	5	4	3	2	5	4	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr3:38768259T>C	ENST00000449082.2	-	16	2924	c.2925A>G	c.(2923-2925)caA>caG	p.Q975Q		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	975					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CTCTGGGAGCTTGGAGCCCTC	0.577													C	38768259	T	C	38768259	2	2	629	1	0	0	0	0	0	0	0	1	14005	1606	56	3		3	SCN10A	3	38768259	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		38768259	159254171	10	51293											
FGFRL1	53834	broad.mit.edu	37	chr4	1018108	1018108	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgttcccacagagcggacccGttccaagcccgtgctcacag	8	6	10	17	4	1	1	1	0	0	1	3	2	3	2	4	1	3	3	4	1	1	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:1018108G>A	ENST00000398484.2	+	7	1308	c.728G>A	c.(727-729)cGt>cAt	p.R243H	FGFRL1_ENST00000510644.1_Missense_Mutation_p.R243H|FGFRL1_ENST00000264748.6_Missense_Mutation_p.R243H|FGFRL1_ENST00000504138.1_Missense_Mutation_p.R243H			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	243					regulation of cell growth	integral to membrane|plasma membrane	fibroblast growth factor receptor activity|heparin binding	p.R213L(2)|p.R243L(2)		endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			GAGCGGACCCGTTCCAAGCCC	0.711													A	1018108	G	A	1018108	3	1	629	1	0	0	0	0	1	0	0	0	5918	1145	40	1	746	1	FGFRL1	4	1018108	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		1018108	190136168	11	51294											
EVC2	132884	broad.mit.edu	37	chr4	5586352	5586352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagcgcctgcactcacccGgctgtgcgactccaggatct	6	7	10	18	3	2	0	1	0	1	0	3	2	3	1	4	2	3	2	4	2	0	0	rs139610006		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:5586352G>A	ENST00000310917.2	-	17	3546	c.2815C>T	c.(2815-2817)Cgg>Tgg	p.R939W	EVC2_ENST00000344938.1_Missense_Mutation_p.R1019W|EVC2_ENST00000344408.5_Missense_Mutation_p.R1019W	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1019						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						GCACTCACCCGGCTGTGCGAC	0.602													A	5586352	G	A	5586352	3	1	629	1	0	0	0	0	1	0	0	0	5327	1115	39	1	895	1	EVC2	4	5586352	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	4568244	5586352	185567924	12	51295											
AFP	174	broad.mit.edu	37	chr4	74316388	74316388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gacctcgtcggagctgatggCcatcaccagaaaaatggcag	12	6	12	11	2	1	2	1	1	0	1	3	4	1	3	3	3	1	2	3	3	2	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr4:74316388C>T	ENST00000395792.2	+	11	1446	c.1346C>T	c.(1345-1347)gCc>gTc	p.A449V	AFP_ENST00000226359.2_Missense_Mutation_p.A449V	NM_001134.1	NP_001125.1	P02771	FETA_HUMAN	alpha-fetoprotein	449	Albumin 3.				transport		metal ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(13)|ovary(1)|skin(1)|urinary_tract(1)	22	Breast(15;0.00102)		Epithelial(6;2.42e-05)|all cancers(17;0.000268)|OV - Ovarian serous cystadenocarcinoma(6;0.000324)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAGCTGATGGCCATCACCAGA	0.507									Alpha-Fetoprotein, Hereditary Persistence of				T	74316388	C	T	74316388	3	4	629	1	0	0	0	0	1	0	0	0	363	739	26	2	1388	2	AFP	4	74316388	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	68730036	74316388	116837888	13	51296											
MICA	100507436	broad.mit.edu	37	chr6	31379973	31379973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgctacatggaacacagcgGgaatcacagcactcaccctg	12	6	9	14	1	2	0	2	0	0	0	2	2	2	2	1	2	5	2	1	2	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:31379973G>A	ENST00000449934.2	+	4	917	c.863G>A	c.(862-864)gGg>gAg	p.G288E	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	288	Ig-like C1-type.				antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GAACACAGCGGGAATCACAGC	0.612													A	31379973	G	A	31379973	3	1	629	1	0	0	0	0	1	0	0	0	9643	1232	43	2	877	2	MICA	6	31379973	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		31379973	139735094	14	51297											
HLA-DOA	3111	broad.mit.edu	37	chr6	32974943	32974943	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgatggccaggcccagggcAcagaccagggtctccatggc	8	4	14	15	1	1	1	0	0	1	1	2	2	1	1	5	5	0	1	5	5	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:32974943A>G	ENST00000229829.5	-	4	738	c.663T>C	c.(661-663)tgT>tgC	p.C221C	HLA-DOA_ENST00000450833.2_Intron	NM_002119.3	NP_002110.1	P06340	DOA_HUMAN	major histocompatibility complex, class II, DO alpha	221					antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endosome membrane|integral to membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(3)|prostate(1)	9						GGCCCAGGGCACAGACCAGGG	0.577													G	32974943	A	G	32974943	2	3	629	1	0	0	0	0	0	0	0	1	7255	157	6	3		3	HLA-DOA	6	32974943	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	1594970	32974943	138140124	15	51298											
PKHD1	5314	broad.mit.edu	37	chr6	51892645	51892645	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagcagggacccacagcAaggctcgatgctgaaaactt	13	5	10	13	1	0	1	0	1	0	0	1	3	0	2	2	2	4	4	2	2	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr6:51892645A>G	ENST00000371117.3	-	31	3885	c.3610T>C	c.(3610-3612)Tgc>Cgc	p.C1204R	PKHD1_ENST00000340994.4_Missense_Mutation_p.C1204R	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1204	IPT/TIG 7.		C -> Y.		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GACCCACAGCAAGGCTCGATG	0.413													G	51892645	A	G	51892645	3	3	629	1	0	0	0	0	1	0	0	0	12048	130	5	3	8801	3	PKHD1	6	51892645	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	18917702	51892645	119222422	16	51299											
TWISTNB	221830	broad.mit.edu	37	chr7	19738111	19738113	+	In_Frame_Del	DEL	TTC	TTC	-																															cctgaacttcctggtgctttTtcttcttcttctttttcttt																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:19738111_19738113delTTC	ENST00000222567.5	-	4	913_915	c.843_845delGAA	c.(841-846)aagaaa>aaa	p.281_282KK>K		NM_001002926.1	NP_001002926.1	Q3B726	RPA43_HUMAN	TWIST neighbor	281	Lys-rich.					microtubule cytoskeleton|nucleolus	DNA-directed RNA polymerase activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	20						CTGGTGCTTTTTCTTCTTCTTCT	0.433													-	19738113	TTC	-	19738111	7	5	629	1	0	1	0	1	0	0	0	0	16886	1841	64	0	175	0	TWISTNB	7	19738111	In_Frame_Del	DEL	TTC	TCGA-IK-7675-01A-11D-2086-08		19738111	139400552	17	51300											
WBSCR17	64409	broad.mit.edu	37	chr7	71135022	71135022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggaaaagtttaaagtgtaaGaatttccagtggtacctgga	15	11	11	4	0	0	1	0	0	0	1	1	3	1	3	2	3	1	3	2	3	7	5			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr7:71135022G>C	ENST00000333538.5	+	8	1966	c.1332G>C	c.(1330-1332)aaG>aaC	p.K444N	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	444						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				TAAAGTGTAAGAATTTCCAGT	0.438													C	71135022	G	C	71135022	3	2	629	1	0	0	0	0	1	0	0	0	17366	933	33	4	1362	4	WBSCR17	7	71135022	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	51396911	71135022	88003641	18	51301											
ADAM28	10863	broad.mit.edu	37	chr8	24151678	24151678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcatgttgcaaggtctcCtgccagtcagtctcctcctc	6	11	8	16	0	3	0	1	0	2	0	7	0	4	0	5	1	3	3	5	1	1	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr8:24151678C>G	ENST00000265769.4	+	1	126	c.16C>G	c.(16-18)Ctg>Gtg	p.L6V	ADAM28_ENST00000437154.2_Missense_Mutation_p.L6V|ADAM28_ENST00000397649.3_5'UTR|ADAM28_ENST00000540823.1_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	6					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GCAAGGTCTCCTGCCAGTCAG	0.498													G	24151678	C	G	24151678	3	3	629	1	0	0	0	0	1	0	0	0	246	680	24	4	18	4	ADAM28	8	24151678	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		24151678	122212344	19	51302											
HAUS6	54801	broad.mit.edu	37	chr9	19093229	19093229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcaaaatgatacatcagatGaataaacttaggaccaccag	18	8	7	8	0	1	3	1	2	0	1	1	4	1	4	2	1	3	1	2	1	7	3	rs151253216		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093229G>A	ENST00000380502.3	-	4	843	c.376C>T	c.(376-378)Cat>Tat	p.H126Y		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	126					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle		p.H126Y(1)		autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						TACATCAGATGAATAAACTTA	0.294													A	19093229	G	A	19093229	3	1	629	1	0	0	0	0	1	0	0	0	7025	1290	45	2	2547	2	HAUS6	9	19093229	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		19093229	122120202	20	51303			1	76		2	2	36	G		6.105106e-05
HAUS6	54801	broad.mit.edu	37	chr9	19093264	19093264	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccaggagaaagaaatagtGaaccaacaacttgaggaaag	20	4	10	7	0	0	4	0	2	0	2	0	6	0	5	2	2	3	0	2	2	7	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:19093264G>C	ENST00000380502.3	-	4	808	c.341C>G	c.(340-342)tCa>tGa	p.S114*		NM_001270890.1|NM_017645.4	NP_001257819.1|NP_060115.3	Q7Z4H7	HAUS6_HUMAN	HAUS augmin-like complex, subunit 6	114					cell division|centrosome organization|mitosis|spindle assembly	centrosome|HAUS complex|microtubule|nucleus|spindle				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						AAGAAATAGTGAACCAACAAC	0.313													C	19093264	G	C	19093264	4	2	629	1	0	0	0	0	0	1	0	0	7025	1294	45	4	2582	4	HAUS6	9	19093264	Nonsense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	35	19093264	122120167	21	51304			1	76		2	2	36	G		6.105106e-05
CNTNAP3	79937	broad.mit.edu	37	chr9	39140572	39140572	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccacttccatctgcatcaAtatagtaaagcccagacggg	12	8	9	12	1	2	1	1	0	1	1	3	1	3	1	3	2	2	2	3	2	5	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:39140572A>C	ENST00000297668.6	-	12	1893	c.1820T>G	c.(1819-1821)aTt>aGt	p.I607S	CNTNAP3_ENST00000358144.2_Missense_Mutation_p.I519S|CNTNAP3_ENST00000323947.7_Missense_Mutation_p.I514S|CNTNAP3_ENST00000377656.2_Missense_Mutation_p.I607S|CNTNAP3_ENST00000377659.1_Missense_Mutation_p.I607S	NM_033655.3	NP_387504.2	Q9BZ76	CNTP3_HUMAN	contactin associated protein-like 3	607	Fibrinogen C-terminal.				cell adhesion|cell recognition|signal transduction	extracellular region|integral to membrane|plasma membrane	receptor binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	24				GBM - Glioblastoma multiforme(29;0.02)|Lung(182;0.0681)		ATCTGCATCAATATAGTAAAG	0.453													C	39140572	A	C	39140572	3	2	629	1	0	0	0	0	1	0	0	0	3679	101	4	5	2098	5	CNTNAP3	9	39140572	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08	20047308	39140572	102072859	22	51305											
SVEP1	79987	broad.mit.edu	37	chr9	113275228	113275228	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtagctctctgaaccGgaccacaaaccattgggtag	11	8	10	12	1	1	1	0	1	1	0	2	2	1	2	3	2	4	4	3	2	4	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:113275228G>A	ENST00000401783.2	-	5	1617	c.1281C>T	c.(1279-1281)tcC>tcT	p.S427S	SVEP1_ENST00000374461.1_Silent_p.S404S|SVEP1_ENST00000374469.1_Silent_p.S404S|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000302728.8_Silent_p.S427S	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	427	Sushi 1.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCTCTGAACCGGACCACAAAC	0.443													A	113275228	G	A	113275228	2	1	629	1	0	0	0	0	0	0	0	1	15516	1103	39	1		1	SVEP1	9	113275228	Silent	SNP	G	TCGA-IK-7675-01A-11D-2086-08	74134656	113275228	27938203	23	51306											
OR1N2	138882	broad.mit.edu	37	chr9	125316257	125316257	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggtggttctgctcttctatgGgtctcttatgggtgtgtatt	3	19	13	6	0	4	0	0	0	4	0	5	0	4	0	0	4	1	3	0	4	3	6			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr9:125316257G>T	ENST00000373688.2	+	1	867	c.809G>T	c.(808-810)gGg>gTg	p.G270V		NM_001004457.1	NP_001004457.1	Q8NGR9	OR1N2_HUMAN	olfactory receptor, family 1, subfamily N, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(3)	26						CTCTTCTATGGGTCTCTTATG	0.473													T	125316257	G	T	125316257	3	4	629	1	0	0	0	0	1	0	0	0	11046	1232	43	4	811	4	OR1N2	9	125316257	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	12041029	125316257	15897174	24	51307											
HPSE2	60495	broad.mit.edu	37	chr10	100401630	100401630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattttcctaatctggtcagAgagtgtgtctaacaggcgag	11	12	11	7	1	3	1	1	0	2	1	4	3	4	1	1	2	1	0	1	2	3	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr10:100401630A>G	ENST00000370552.3	-	7	1131	c.1072T>C	c.(1072-1074)Tct>Cct	p.S358P	HPSE2_ENST00000404542.1_Missense_Mutation_p.S246P|HPSE2_ENST00000370549.1_Missense_Mutation_p.S300P|HPSE2_ENST00000370546.1_Missense_Mutation_p.S358P	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	358					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		ATCTGGTCAGAGAGTGTGTCT	0.413													G	100401630	A	G	100401630	3	3	629	1	0	0	0	0	1	0	0	0	7400	304	11	3	768	3	HPSE2	10	100401630	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		100401630	35133117	25	51308											
AMBRA1	55626	broad.mit.edu	37	chr11	46456428	46456429	+	Frame_Shift_Ins	INS	-	-	GGTTATGGGG																															ggtgtagagcatttcgcccaINSggttatggggggccagggag																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:46456428_46456429insGGTTATGGGG	ENST00000458649.2	-	13	3209_3210	c.2791_2792insCCCCATAACC	c.(2791-2793)ctgfs	p.L931fs	AMBRA1_ENST00000534300.1_Frame_Shift_Ins_p.L871fs|AMBRA1_ENST00000314845.3_Frame_Shift_Ins_p.L841fs|AMBRA1_ENST00000533727.1_Frame_Shift_Ins_p.L812fs|AMBRA1_ENST00000426438.1_Frame_Shift_Ins_p.L902fs|AMBRA1_ENST00000528950.1_Frame_Shift_Ins_p.L902fs|AMBRA1_ENST00000298834.3_Frame_Shift_Ins_p.L871fs			Q9C0C7	AMRA1_HUMAN	autophagy/beclin-1 regulator 1	931					autophagy|cell differentiation|nervous system development	autophagic vacuole|cytoplasmic vesicle				NS(1)|breast(3)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	39				GBM - Glioblastoma multiforme(35;0.0435)|Lung(87;0.182)		CATTTCGCCCAGGTTATGGGGG	0.569													GGTTATGGGG	46456429	-	GGTTATGGGG	46456428	7	5	629	1	0	1	1	0	0	0	0	0	565	188	7	0	1128	0	AMBRA1	11	46456428	Frame_Shift_Ins	INS	-	TCGA-IK-7675-01A-11D-2086-08		46456428	88550088	26	51309											
OR9G1	390174	broad.mit.edu	37	chr11	56468238	56468238	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgaccgctacgtggccatCtccaagcccctgctttatgc	7	11	8	15	2	1	1	0	1	1	0	2	1	1	1	5	1	4	2	5	1	4	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:56468238C>T	ENST00000312153.1	+	1	375	c.375C>T	c.(373-375)atC>atT	p.I125I		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1									p.I125I(1)		breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACGTGGCCATCTCCAAGCCCC	0.522													T	56468238	C	T	56468238	2	4	629	1	0	0	0	0	0	0	0	1	11326	903	32	2		2	OR9G1	11	56468238	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08	10011810	56468238	78538278	27	51310											
PCNXL3	399909	broad.mit.edu	37	chr11	65403262	65403262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattgcccactggctcctgcGcacctgggagaggtgaggcc	6	7	14	14	1	0	2	0	1	0	1	1	3	1	2	4	4	2	2	4	4	0	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:65403262G>A	ENST00000355703.3	+	32	5986	c.5447G>A	c.(5446-5448)cGc>cAc	p.R1816H		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1816						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						TGGCTCCTGCGCACCTGGGAG	0.687													A	65403262	G	A	65403262	3	1	629	1	0	0	0	0	1	0	0	0	11669	1087	38	1	5573	1	PCNXL3	11	65403262	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	8935024	65403262	69603254	28	51311											
FOLH1B	219595	broad.mit.edu	37	chr11	89395322	89395322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttttttttttcagaataCgcttataggcatggaattgc	11	18	7	5	1	1	1	1	0	0	1	1	2	1	2	0	2	2	2	0	2	6	9			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr11:89395322C>T	ENST00000532352.1	+	0	720							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B						proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						TTTCAGAATACGCTTATAGGC	0.343													T	89395322	C	T	89395322	1	4	629	0	1	0	0	0	0	0	0	0	6029	551	19	1		1	FOLH1B	11	89395322	RNA	SNP	C	TCGA-IK-7675-01A-11D-2086-08	23992060	89395322	45611194	29	51312											
PLEKHA5	54477	broad.mit.edu	37	chr12	19475547	19475547	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggtgttacaaagggaTgatttacaaaatggactgct	14	11	11	5	0	0	1	0	1	0	0	0	3	0	3	0	3	3	2	0	3	5	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:19475547T>C	ENST00000538714.1	+	17	2263	c.2259T>C	c.(2257-2259)gaT>gaC	p.D753D	PLEKHA5_ENST00000429027.2_Silent_p.D798D|PLEKHA5_ENST00000539256.1_Silent_p.D453D|PLEKHA5_ENST00000424268.1_Silent_p.D626D|PLEKHA5_ENST00000317589.4_Silent_p.D695D|PLEKHA5_ENST00000299275.6_Silent_p.D695D|PLEKHA5_ENST00000359180.3_Silent_p.D695D|PLEKHA5_ENST00000355397.3_Silent_p.D753D|PLEKHA5_ENST00000543806.1_Silent_p.D614D	NM_001143821.2	NP_001137293.2	Q9HAU0	PKHA5_HUMAN	pleckstrin homology domain containing, family A member 5	695							1-phosphatidylinositol binding|protein binding			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.00804)					TACAAAGGGATGATTTACAAA	0.408													C	19475547	T	C	19475547	2	2	629	1	0	0	0	0	0	0	0	1	12136	1461	51	3		3	PLEKHA5	12	19475547	Silent	SNP	T	TCGA-IK-7675-01A-11D-2086-08		19475547	114376348	30	51313											
KRT3	3850	broad.mit.edu	37	chr12	53189414	53189431	+	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	CCAAAGCCACCAGCCCCT	-																															caccaaagccaccaggaccaCcaaagccaccagcccctcca																								rs142692092	by1000genomes	TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr12:53189414_53189431delCCAAAGCCACCAGCCCCT	ENST00000417996.2	-	1	470_487	c.396_413delAGGGGCTGGTGGCTTTGG	c.(394-414)ggaggggctggtggctttggt>ggt	p.132_138GGAGGFG>G	KRT3_ENST00000309505.3_In_Frame_Del_p.132_138GGAGGFG>G	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	132	Gly-rich.|Head.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						accaggaccaccaaagccaccagcccctccaaagccac	0.633													-	53189431	CCAAAGCCACCAGCCCCT	-	53189414	7	5	629	1	0	1	0	1	0	0	0	0	8524	507	18	0	1509	0	KRT3	12	53189414	In_Frame_Del	DEL	CCAAAGCCACCAGCCCCT	TCGA-IK-7675-01A-11D-2086-08	33713867	53189414	80662481	31	51314											
APBA2	321	broad.mit.edu	37	chr15	29346413	29346413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctactgccctgaggacgacaGctacctagagggcatggact	10	7	12	12	1	0	2	0	1	0	1	0	5	0	4	2	3	4	2	2	3	3	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:29346413G>A	ENST00000558402.1	+	5	925	c.326G>A	c.(325-327)aGc>aAc	p.S109N	APBA2_ENST00000558259.1_Missense_Mutation_p.S109N|APBA2_ENST00000558330.1_Missense_Mutation_p.S109N|APBA2_ENST00000411764.1_Missense_Mutation_p.S109N|APBA2_ENST00000561069.1_Missense_Mutation_p.S109N			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	109					nervous system development|protein transport		protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GAGGACGACAGCTACCTAGAG	0.607													A	29346413	G	A	29346413	3	1	629	1	0	0	0	0	1	0	0	0	759	971	34	2	328	2	APBA2	15	29346413	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		29346413	73184979	32	51315											
ZNF609	23060	broad.mit.edu	37	chr15	64966267	64966267	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcaaaacccgggcaggagCcaatagcaaaggccgtcggg	13	2	14	12	3	0	0	0	0	0	0	1	1	0	1	3	4	4	3	3	4	5	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr15:64966267C>G	ENST00000326648.3	+	4	1342	c.1214C>G	c.(1213-1215)gCc>gGc	p.A405G	ZNF609_ENST00000559364.1_3'UTR	NM_015042.1	NP_055857.1	O15014	ZN609_HUMAN	zinc finger protein 609	405						nucleus	zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(9)|lung(11)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						CGGGCAGGAGCCAATAGCAAA	0.567													G	64966267	C	G	64966267	3	3	629	1	0	0	0	0	1	0	0	0	18136	739	26	4	1228	4	ZNF609	15	64966267	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	35619854	64966267	37565125	33	51316											
GGA2	23062	broad.mit.edu	37	chr16	23491094	23491094	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgccctcacccaaggctGccaggtcctgatgaagcaaa	11	6	9	15	0	1	2	1	2	0	0	2	2	2	2	5	2	3	2	5	2	3	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:23491094G>T	ENST00000309859.4	-	11	1203	c.1121C>A	c.(1120-1122)gCa>gAa	p.A374E	GGA2_ENST00000569182.1_5'UTR|GGA2_ENST00000567468.1_Intron	NM_015044.4	NP_055859.1	Q9UJY4	GGA2_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 2	374	Unstructured hinge.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|clathrin-coated vesicle|endosome membrane|trans-Golgi network	ADP-ribosylation factor binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(48;0.0386)		ACCCAAGGCTGCCAGGTCCTG	0.612													T	23491094	G	T	23491094	3	4	629	1	0	0	0	0	1	0	0	0	6409	1319	46	4	748	4	GGA2	16	23491094	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		23491094	66863659	34	51317											
ABCC12	94160	broad.mit.edu	37	chr16	48145730	48145730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaatcagttttgcatagCgccctctctcctccattaac	8	14	6	13	1	2	1	1	1	1	0	5	1	4	1	3	0	3	2	3	0	3	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:48145730C>T	ENST00000311303.3	-	14	2426	c.2081G>A	c.(2080-2082)cGc>cAc	p.R694H	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Missense_Mutation_p.R694H	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	694	ABC transporter 1.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				TTTTGCATAGCGCCCTCTCTC	0.463													T	48145730	C	T	48145730	3	4	629	1	0	0	0	0	1	0	0	0	52	768	27	1	2062	1	ABCC12	16	48145730	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	24654636	48145730	42209023	35	51318											
SLC6A2	6530	broad.mit.edu	37	chr16	55734096	55734096	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcaagccactcacctacGacgactacatcttcccgccc	10	8	4	19	3	3	0	2	0	1	0	4	2	4	0	4	0	3	0	4	0	3	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr16:55734096G>A	ENST00000379906.2	+	12	1891	c.1636G>A	c.(1636-1638)Gac>Aac	p.D546N	SLC6A2_ENST00000566163.1_Missense_Mutation_p.D501N|SLC6A2_ENST00000561820.1_Missense_Mutation_p.D546N|SLC6A2_ENST00000219833.8_Missense_Mutation_p.D546N|SLC6A2_ENST00000567238.1_Missense_Mutation_p.D441N|SLC6A2_ENST00000414754.3_Intron|SLC6A2_ENST00000568943.1_Missense_Mutation_p.D546N	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	546					synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)	ACTCACCTACGACGACTACAT	0.547													A	55734096	G	A	55734096	3	1	629	1	0	0	0	0	1	0	0	0	14777	1058	37	1	1773	1	SLC6A2	16	55734096	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	7588366	55734096	34620657	36	51319											
WDR81	124997	broad.mit.edu	37	chr17	1637326	1637326	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgaggacttcttcctgagCggcagcaaggatcgtaccgt	9	8	13	11	4	1	1	0	1	1	0	3	4	2	3	2	3	4	3	2	3	2	3	rs143987787		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:1637326C>T	ENST00000409644.1	+	7	4995	c.4995C>T	c.(4993-4995)agC>agT	p.S1665S	WDR81_ENST00000545662.1_Silent_p.S296S|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Silent_p.S438S|WDR81_ENST00000446363.1_Silent_p.S304S|WDR81_ENST00000437219.2_Silent_p.S462S|WDR81_ENST00000309182.5_Silent_p.S614S	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	438										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TCTTCCTGAGCGGCAGCAAGG	0.657													T	1637326	C	T	1637326	2	4	629	1	0	0	0	0	0	0	0	1	17432	767	27	1		1	WDR81	17	1637326	Silent	SNP	C	TCGA-IK-7675-01A-11D-2086-08		1637326	79557884	37	51320											
RABEP1	9135	broad.mit.edu	37	chr17	5257698	5257698	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aataagagaaaggatcacaaAaaagcagatgttgaggaaga	22	5	11	3	0	1	4	1	1	0	3	1	7	1	6	0	2	1	2	0	2	7	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:5257698A>G	ENST00000262477.6	+	8	1232	c.1008A>G	c.(1006-1008)aaA>aaG	p.K336K	RABEP1_ENST00000408982.2_Silent_p.K336K|RABEP1_ENST00000537505.1_Silent_p.K293K|RABEP1_ENST00000341923.6_Silent_p.K336K|RABEP1_ENST00000546142.2_Silent_p.K336K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	336					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						AGGATCACAAAAAAGCAGATG	0.338													G	5257698	A	G	5257698	2	3	629	1	0	0	0	0	0	0	0	1	13049	11	1	3		3	RABEP1	17	5257698	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	3620372	5257698	75937512	38	51321											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	629	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2319423	7577121	73618089	39	51322											
CASC3	22794	broad.mit.edu	37	chr17	38320314	38320314	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggacctgggaagctccggtgGattctagtacaagtggactt	9	10	14	8	1	1	0	0	0	1	0	2	4	2	4	2	5	2	2	2	5	4	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:38320314G>T	ENST00000264645.7	+	7	1592	c.1366G>T	c.(1366-1368)Gat>Tat	p.D456Y		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	456	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AGCTCCGGTGGATTCTAGTAC	0.542													T	38320314	G	T	38320314	3	4	629	1	0	0	0	0	1	0	0	0	2687	1174	41	4	1392	4	CASC3	17	38320314	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	30743193	38320314	42874896	40	51323											
G6PC	2538	broad.mit.edu	37	chr17	41059590	41059590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caggtgtatactacgtgatgGtcacatctactctttccatc	9	14	7	11	1	3	1	1	1	2	0	5	1	4	1	1	2	3	1	1	2	4	5			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr17:41059590G>A	ENST00000253801.2	+	3	470	c.391G>A	c.(391-393)Gtc>Atc	p.V131I	G6PC_ENST00000592383.1_Intron|G6PC_ENST00000585489.1_Missense_Mutation_p.V131I	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	131					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTACGTGATGGTCACATCTAC	0.517													A	41059590	G	A	41059590	3	1	629	1	0	0	0	0	1	0	0	0	6195	1261	44	2	401	2	G6PC	17	41059590	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08	2739276	41059590	40135620	41	51324											
ZNF709	163051	broad.mit.edu	37	chr19	12575498	12575498	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggtttctctccagtgtgaGttctttcatgcattcgaaag	7	15	11	8	1	3	1	1	1	2	0	6	2	4	1	1	2	1	3	1	2	1	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:12575498G>A	ENST00000397732.3	-	4	1409	c.1238C>T	c.(1237-1239)aCt>aTt	p.T413I	ZNF709_ENST00000428311.1_Missense_Mutation_p.T413I|CTD-3105H18.18_ENST00000598753.1_Intron	NM_152601.3	NP_689814.1	Q8N972	ZN709_HUMAN	zinc finger protein 709	413					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.T413I(2)		large_intestine(3)|upper_aerodigestive_tract(3)	6						TCCAGTGTGAGTTCTTTCATG	0.418													A	12575498	G	A	12575498	3	1	629	1	0	0	0	0	1	0	0	0	18214	1029	36	2	691	2	ZNF709	19	12575498	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		12575498	46553485	42	51325											
RFX1	5989	broad.mit.edu	37	chr19	14077272	14077272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactgggctggctgaggttgTacctccagaaggtcttccac	7	10	12	12	0	1	2	0	1	1	1	3	2	3	2	3	4	1	4	3	4	2	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:14077272T>C	ENST00000254325.4	-	14	2156	c.1922A>G	c.(1921-1923)tAc>tGc	p.Y641C		NM_002918.4	NP_002909.4	P22670	RFX1_HUMAN	regulatory factor X, 1 (influences HLA class II expression)	641					immune response	nucleus	DNA binding|protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(19;6.67e-23)			GCTGAGGTTGTACCTCCAGAA	0.642													C	14077272	T	C	14077272	3	2	629	1	0	0	0	0	1	0	0	0	13350	1638	57	3	1049	3	RFX1	19	14077272	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	1501774	14077272	45051711	43	51326											
RASIP1	54922	broad.mit.edu	37	chr19	49227649	49227649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagccatggagagtttcCggaagaactcagtggcaatg	12	8	12	9	1	2	2	2	0	0	2	3	4	3	3	2	3	2	2	2	3	3	1			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:49227649C>T	ENST00000222145.4	-	10	2693	c.2489G>A	c.(2488-2490)cGg>cAg	p.R830Q		NM_017805.2	NP_060275.2	Q5U651	RAIN_HUMAN	Ras interacting protein 1	830	Dilute.				signal transduction	Golgi stack|perinuclear region of cytoplasm				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	21		all_lung(116;4.89e-06)|all_epithelial(76;7.04e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;9.98e-05)|all cancers(93;0.000272)|Epithelial(262;0.0155)|GBM - Glioblastoma multiforme(486;0.0222)		GGAGAGTTTCCGGAAGAACTC	0.572													T	49227649	C	T	49227649	3	4	629	1	0	0	0	0	1	0	0	0	13166	652	23	1	414	1	RASIP1	19	49227649	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	35150377	49227649	9901334	44	51327											
ZNF761	388561	broad.mit.edu	37	chr19	53958983	53958983	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagacttcatactggagagAaaccttacaaatgtgaagaa	17	9	9	6	0	1	4	1	1	0	3	1	6	1	5	1	1	3	1	1	1	7	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr19:53958983A>C	ENST00000454407.1	+	0	1675							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TACTGGAGAGAAACCTTACAA	0.368													C	53958983	A	C	53958983	1	2	629	0	1	0	0	0	0	0	0	0	18236	247	9	5		5	ZNF761	19	53958983	RNA	SNP	A	TCGA-IK-7675-01A-11D-2086-08	4731334	53958983	5170000	45	51328											
JPH2	57158	broad.mit.edu	37	chr20	42788430	42788430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctcctcgcggtggccgtCgggcagcgtggtgcagccat	3	7	16	15	5	0	0	0	0	0	0	3	0	1	0	4	4	3	2	4	4	0	0			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr20:42788430C>T	ENST00000372980.3	-	2	1869	c.997G>A	c.(997-999)Gac>Aac	p.D333N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	333					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			CGGTGGCCGTCGGGCAGCGTG	0.662													T	42788430	C	T	42788430	3	4	629	1	0	0	0	0	1	0	0	0	8019	884	31	1	1109	1	JPH2	20	42788430	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08		42788430	20237090	46	51329											
KRTAP20-2	337976	broad.mit.edu	37	chr21	32007647	32007647	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtcctgggcggtggctAtggctgtggctgtggttatg	3	13	19	6	1	0	0	0	0	0	0	1	1	1	1	1	7	0	4	1	7	2	2			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr21:32007647A>G	ENST00000330798.2	+	1	93	c.65A>G	c.(64-66)tAt>tGt	p.Y22C		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	22						intermediate filament				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						GGCGGTGGCTATGGCTGTGGC	0.562													G	32007647	A	G	32007647	3	3	629	1	0	0	0	0	1	0	0	0	8595	449	16	3	67	3	KRTAP20-2	21	32007647	Missense_Mutation	SNP	A	TCGA-IK-7675-01A-11D-2086-08		32007647	16122248	47	51330											
MN1	4330	broad.mit.edu	37	chr22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-																															acctctcaaagaacacaccaTgctgctgctgctgctgctgg																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"								-	28195605	TGC	-	28195603	7	5	629	1	0	1	0	1	0	0	0	0	9749	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-IK-7675-01A-11D-2086-08		28195603	23108963	48	51331			2	77		2	2	23	N	TGC_GCT	3.837539e-05
MN1	4330	broad.mit.edu	37	chr22	28195625	28195627	+	In_Frame_Del	DEL	GCT	GCT	-																															ctgctgctgctgctgctgggGctgctgctgctgctggggct																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:28195625_28195627delGCT	ENST00000302326.4	-	1	1859_1861	c.905_907delAGC	c.(904-909)cagccc>ccc	p.Q302del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	302	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						tgctgctggggctgctgctgctg	0.66			T	ETV6	"AML, meningioma"								-	28195627	GCT	-	28195625	7	5	629	1	0	1	0	1	0	0	0	0	9749	1203	42	0	3063	0	MN1	22	28195625	In_Frame_Del	DEL	GCT	TCGA-IK-7675-01A-11D-2086-08	22	28195625	23108941	49	51332			2	77		2	2	23	N	TGC_GCT	3.837539e-05
TUBGCP6	85378	broad.mit.edu	37	chr22	50659166	50659166	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttccaccgtggccgggTgggagccatgtctgacacag	6	8	16	11	2	1	1	0	1	1	0	2	2	2	2	4	4	1	1	4	4	0	1	rs145066767		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659166T>C	ENST00000439308.2	-	16	4114	c.3622A>G	c.(3622-3624)Acc>Gcc	p.T1208A	TUBGCP6_ENST00000248846.5_Missense_Mutation_p.T1208A|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1208	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTGGCCGGGTGGGAGCCATG	0.622													C	50659166	T	C	50659166	3	2	629	1	0	0	0	0	1	0	0	0	16872	1696	59	3	1877	3	TUBGCP6	22	50659166	Missense_Mutation	SNP	T	TCGA-IK-7675-01A-11D-2086-08	22463541	50659166	645400	50	51333			3	78	22463541	2	2	47	N	T_A	8.023777e-05
TUBGCP6	85378	broad.mit.edu	37	chr22	50659212	50659212	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaagctgatgctggcatcAgacacgtgtccatgggtgtt	8	10	12	11	1	1	2	1	1	0	1	2	2	2	2	2	2	2	4	2	2	1	1	rs141527317		TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chr22:50659212A>G	ENST00000439308.2	-	16	4068	c.3576T>C	c.(3574-3576)tcT>tcC	p.S1192S	TUBGCP6_ENST00000248846.5_Silent_p.S1192S|TUBGCP6_ENST00000491449.1_5'UTR	NM_020461.3	NP_065194.2	Q96RT7	GCP6_HUMAN	tubulin, gamma complex associated protein 6	1192	9 X 27 AA tandem repeats.				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(4)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(13)|ovary(3)|prostate(2)|skin(2)	45		all_cancers(38;5.79e-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)		LUAD - Lung adenocarcinoma(64;0.109)|BRCA - Breast invasive adenocarcinoma(115;0.21)		TGCTGGCATCAGACACGTGTC	0.617													G	50659212	A	G	50659212	2	3	629	1	0	0	0	0	0	0	0	1	16872	175	7	3		3	TUBGCP6	22	50659212	Silent	SNP	A	TCGA-IK-7675-01A-11D-2086-08	46	50659212	645354	51	51334			3	78	22463541	2	2	47	N	T_A	8.023777e-05
FANCB	2187	broad.mit.edu	37	chrX	14863149	14863149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttactgaatgttaaaagtgGtgaaagagatgttacagcag	15	12	11	3	0	0	3	0	2	0	1	0	4	0	3	0	1	3	3	0	1	6	4			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:14863149G>A	ENST00000398334.1	-	8	2023	c.1756C>T	c.(1756-1758)Cca>Tca	p.P586S	FANCB_ENST00000324138.3_Missense_Mutation_p.P586S	NM_001018113.1	NP_001018123.1	Q8NB91	FANCB_HUMAN	Fanconi anemia, complementation group B	586					DNA repair	nucleoplasm				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	24	Hepatocellular(33;0.183)					GTTAAAAGTGGTGAAAGAGAT	0.388								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	14863149	G	A	14863149	3	1	629	1	0	0	0	0	1	0	0	0	5712	1261	44	2	835	2	FANCB	23	14863149	Missense_Mutation	SNP	G	TCGA-IK-7675-01A-11D-2086-08		14863149	140407411	52	51335											
GRPR	2925	broad.mit.edu	37	chrX	16170454	16170454	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttctgctggctccccaatCatgtcatctacctgtaccgc	6	12	6	17	1	4	0	2	0	2	0	5	0	5	0	5	1	3	3	5	1	3	3			TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:16170454C>A	ENST00000380289.2	+	3	1239	c.841C>A	c.(841-843)Cat>Aat	p.H281N		NM_005314.2	NP_005305.1	P30550	GRPR_HUMAN	gastrin-releasing peptide receptor	281					cell proliferation	integral to plasma membrane	bombesin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(3)|stomach(1)|upper_aerodigestive_tract(3)	25	Hepatocellular(33;0.183)					GCTCCCCAATCATGTCATCTA	0.547													A	16170454	C	A	16170454	3	1	629	1	0	0	0	0	1	0	0	0	6863	826	29	4	851	4	GRPR	23	16170454	Missense_Mutation	SNP	C	TCGA-IK-7675-01A-11D-2086-08	1307305	16170454	139100106	53	51336											
ATRX	546	broad.mit.edu	37	chrX	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-																															ttttatctcttatttttttaCttttcttttctccatcagtt																										TCGA-IK-7675-01A-11D-2086-08	TCGA-IK-7675-10A-01D-2086-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a78544d7-65c6-4778-af62-ceec24c14056	110272fc-ed7e-4515-84d7-5e7262cfc9a8	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937615	CTTTT	-	76937611	7	5	629	1	0	1	0	1	0	0	0	0	1213	565	20	0	4449	0	ATRX	23	76937611	Frame_Shift_Del	DEL	CTTTT	TCGA-IK-7675-01A-11D-2086-08	60767157	76937611	78332949	54	51337											
HFM1	164045	broad.mit.edu	37	chr1	91781979	91781980	+	Frame_Shift_Ins	INS	-	-	T																															ccttgcatctgtctcttctaINStttttttaaaggaagtcaaa																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:91781979_91781980insT	ENST00000370425.3	-	26	2964_2965	c.2866_2867insA	c.(2866-2868)atafs	p.I956fs	HFM1_ENST00000370424.3_Frame_Shift_Ins_p.I635fs|HFM1_ENST00000294696.5_Frame_Shift_Ins_p.I188fs|HFM1_ENST00000462405.1_5'UTR	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	956	SEC63.						ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		TGTCTCTTCTATTTTTTTAAAG	0.292													T	91781980	-	T	91781979	7	5	630	1	0	1	1	0	0	0	0	0	7138	449	16	0	1496	0	HFM1	1	91781979	Frame_Shift_Ins	INS	-	TCGA-IK-8125-01A-11D-2253-08		91781979	157468642	1	51338											
KPRP	448834	broad.mit.edu	37	chr1	152733157	152733157	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccgcagccctcctggggcGcctcctgccctgagctgagg	3	6	14	18	2	0	2	0	2	0	0	2	2	2	2	6	3	3	2	6	3	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:152733157G>A	ENST00000368773.1	+	2	1151	c.1093G>A	c.(1093-1095)Gcc>Acc	p.A365T	KPRP_ENST00000606109.1_Missense_Mutation_p.A365T	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	365	Pro-rich.					cytoplasm		p.A365T(1)		NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTCCTGGGGCGCCTCCTGCCC	0.662													A	152733157	G	A	152733157	3	1	630	1	0	0	0	0	1	0	0	0	8494	1087	38	1	1095	1	KPRP	1	152733157	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	60951178	152733157	96517464	2	51339											
CHRM3	1131	broad.mit.edu	37	chr1	240070879	240070879	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttcggcagctacaatgtttCtcgagcagctggcaatttct	8	14	9	10	2	2	0	0	0	2	0	4	1	2	0	0	2	4	6	0	2	3	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr1:240070879C>T	ENST00000255380.4	+	5	907	c.128C>T	c.(127-129)tCt>tTt	p.S43F		NM_000740.2	NP_000731.1	P20309	ACM3_HUMAN	cholinergic receptor, muscarinic 3	43					cell proliferation|energy reserve metabolic process|nervous system development|protein modification process|regulation of insulin secretion	basolateral plasma membrane|cell junction|integral to plasma membrane|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity	p.S43Y(1)		breast(3)|endometrium(5)|kidney(2)|large_intestine(4)|lung(19)|ovary(4)|prostate(1)|skin(12)|upper_aerodigestive_tract(1)	51	Ovarian(103;0.127)	all_cancers(173;0.00567)|all_neural(198;0.203)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)		Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Cevimeline(DB00185)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Darifenacin(DB00496)|Diphemanil Methylsulfate(DB00729)|Diphenidol(DB01231)|Homatropine Methylbromide(DB00725)|Methotrimeprazine(DB01403)|Metixene(DB00340)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Solifenacin(DB01591)|Thiethylperazine(DB00372)|Tiotropium(DB01409)|Tolterodine(DB01036)|Tridihexethyl(DB00505)	TACAATGTTTCTCGAGCAGCT	0.562													T	240070879	C	T	240070879	3	4	630	1	0	0	0	0	1	0	0	0	3408	913	32	2	130	2	CHRM3	1	240070879	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	87337722	240070879	9179742	3	51340											
THSD7B	80731	broad.mit.edu	37	chr2	137814593	137814593	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagccttaaggttggaccatGgagtaaatgcagactgcctc	11	10	11	9	0	0	1	0	0	0	1	1	3	0	3	3	3	3	3	3	3	4	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:137814593G>A	ENST00000409968.1	+	3	921	c.743G>A	c.(742-744)tGg>tAg	p.W248*	THSD7B_ENST00000413152.2_Nonsense_Mutation_p.W217*|THSD7B_ENST00000543459.1_Nonsense_Mutation_p.W107*|THSD7B_ENST00000272643.3_Nonsense_Mutation_p.W248*					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		GTTGGACCATGGAGTAAATGC	0.413													A	137814593	G	A	137814593	4	1	630	1	0	0	0	0	0	1	0	0	15980	1357	47	2	656	2	THSD7B	2	137814593	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		137814593	105384780	4	51341											
TTN	7273	broad.mit.edu	37	chr2	179634978	179634978	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacagtgtcatgggaaacaCtaacttcaaaggcaacagtg	16	7	10	8	0	2	0	2	0	0	0	2	2	2	1	0	2	4	1	0	2	5	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179634978C>G	ENST00000589042.1	-	36	8674	c.8450G>C	c.(8449-8451)aGt>aCt	p.S2817T	TTN_ENST00000342175.6_Missense_Mutation_p.S2771T|TTN-AS1_ENST00000610005.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.S2817T|TTN_ENST00000342992.6_Missense_Mutation_p.S2817T|TTN_ENST00000359218.5_Missense_Mutation_p.S2771T|TTN_ENST00000360870.5_Missense_Mutation_p.S2817T|TTN_ENST00000460472.2_Missense_Mutation_p.S2771T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	2555							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATGGGAAACACTAACTTCAAA	0.408													G	179634978	C	G	179634978	3	3	630	1	0	0	0	0	1	0	0	0	16837	565	20	4	102846	4	TTN	2	179634978	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	41820385	179634978	63564395	5	51342											
CCDC141	285025	broad.mit.edu	37	chr2	179720137	179720137	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttgtaatctgtcacaacTttgtcaaagtcatccacatg	11	15	5	10	0	5	0	3	0	2	0	6	0	6	0	1	0	1	1	1	0	3	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:179720137T>G	ENST00000420890.2	-	19	3114	c.2997A>C	c.(2995-2997)aaA>aaC	p.K999N	CCDC141_ENST00000295723.5_Missense_Mutation_p.K424N	NM_173648.3	NP_775919.3	Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	424							protein binding			NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			CTGTCACAACTTTGTCAAAGT	0.353													G	179720137	T	G	179720137	3	3	630	1	0	0	0	0	1	0	0	0	2801	1606	56	5	1375	5	CCDC141	2	179720137	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	85159	179720137	63479236	6	51343											
MYO1B	4430	broad.mit.edu	37	chr2	192257829	192257829	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagaagacctgaggaagcaaCgcctggaggacttggccact	12	6	13	10	1	0	3	0	1	0	2	0	6	0	6	3	4	2	1	3	4	4	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:192257829C>T	ENST00000392318.3	+	20	2354	c.2107C>T	c.(2107-2109)Cgc>Tgc	p.R703C	MYO1B_ENST00000392316.1_Missense_Mutation_p.R703C|MYO1B_ENST00000339514.4_Missense_Mutation_p.R703C|MYO1B_ENST00000439065.2_5'UTR|MYO1B_ENST00000304164.4_Missense_Mutation_p.R703C	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	703						myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GAGGAAGCAACGCCTGGAGGA	0.413													T	192257829	C	T	192257829	3	4	630	1	0	0	0	0	1	0	0	0	10145	536	19	1	2181	1	MYO1B	2	192257829	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	12537692	192257829	50941544	7	51344											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	630	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	16855283	209113112	34086261	8	51345											
NGEF	25791	broad.mit.edu	37	chr2	233759484	233759484	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgctcactgacagccagcAcgtccaggacgttggagaag	11	5	12	13	3	1	2	1	1	0	1	2	4	2	3	3	2	2	3	3	2	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr2:233759484A>G	ENST00000264051.3	-	6	1249	c.971T>C	c.(970-972)gTg>gCg	p.V324A	NGEF_ENST00000539537.1_Missense_Mutation_p.V47A|NGEF_ENST00000373552.4_Missense_Mutation_p.V232A|NGEF_ENST00000409079.1_Missense_Mutation_p.V232A	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	324	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		GACAGCCAGCACGTCCAGGAC	0.602													G	233759484	A	G	233759484	3	3	630	1	0	0	0	0	1	0	0	0	10470	159	6	3	1201	3	NGEF	2	233759484	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	24646372	233759484	9439889	9	51346											
FLNB	2317	broad.mit.edu	37	chr3	58097875	58097875	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttcacagtatatctttccaGgtgtggaaaatgggaaaccg	12	11	10	8	1	2	0	1	0	1	0	3	2	3	2	2	3	1	1	2	3	5	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:58097875G>A	ENST00000357272.4	+	18	2740		c.e18-1		FLNB_ENST00000295956.4_Splice_Site|FLNB_ENST00000429972.2_Splice_Site|FLNB_ENST00000348383.5_Splice_Site|FLNB_ENST00000358537.3_Splice_Site|FLNB_ENST00000419752.2_Splice_Site|FLNB_ENST00000493452.1_Splice_Site|FLNB_ENST00000490882.1_Splice_Site			O75369	FLNB_HUMAN	filamin B, beta						actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TATCTTTCCAGGTGTGGAAAA	0.522													A	58097875	G	A	58097875	5	1	630	1	0	0	0	0	0	0	1	0	5983	1014	35	2	2645	2	FLNB	3	58097875	Splice_Site	SNP	G	TCGA-IK-8125-01A-11D-2253-08		58097875	139924555	10	51347											
CRYBG3	131544	broad.mit.edu	37	chr3	97596597	97596597	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacattttaccctgatgacCaggagagcgttggaatttct	10	13	9	9	1	2	3	1	2	1	1	2	5	2	4	2	2	2	1	2	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:97596597C>T	ENST00000182096.4	+	1	779	c.715C>T	c.(715-717)Cag>Tag	p.Q239*		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						CCCTGATGACCAGGAGAGCGT	0.468													T	97596597	C	T	97596597	4	4	630	1	0	0	0	0	0	1	0	0	3944	595	21	2	717	2	CRYBG3	3	97596597	Nonsense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	39498722	97596597	100425833	11	51348											
ABI3BP	25890	broad.mit.edu	37	chr3	100523693	100523693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttggttttgcagtaacacGctggggcaccttaggaactg	8	13	12	8	1	0	0	0	0	0	0	0	1	0	1	1	4	3	5	1	4	3	6			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr3:100523693G>A	ENST00000471714.1	-	51	3830	c.3721C>T	c.(3721-3723)Cgt>Tgt	p.R1241C	ABI3BP_ENST00000383691.4_Missense_Mutation_p.R518C|ABI3BP_ENST00000284322.5_Missense_Mutation_p.R564C			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	564						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GCAGTAACACGCTGGGGCACC	0.398													A	100523693	G	A	100523693	3	1	630	1	0	0	0	0	1	0	0	0	91	1087	38	1	1601	1	ABI3BP	3	100523693	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	2927096	100523693	97498737	12	51349											
ENAM	10117	broad.mit.edu	37	chr4	71508741	71508741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgccatatgaatcagaaaCtaatcagtcagaattaaagc	18	9	7	7	0	3	3	3	1	0	2	3	4	3	3	1	0	3	0	1	0	7	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:71508741C>T	ENST00000396073.3	+	9	1879	c.1598C>T	c.(1597-1599)aCt>aTt	p.T533I	ENAM_ENST00000472903.1_Intron	NM_031889.2	NP_114095.2	Q9NRM1	ENAM_HUMAN	enamelin	533					bone mineralization|odontogenesis	proteinaceous extracellular matrix	structural constituent of tooth enamel			haematopoietic_and_lymphoid_tissue(1)|ovary(3)|upper_aerodigestive_tract(2)	6			Lung(101;0.235)			GAATCAGAAACTAATCAGTCA	0.413													T	71508741	C	T	71508741	3	4	630	1	0	0	0	0	1	0	0	0	5153	565	20	2	1628	2	ENAM	4	71508741	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		71508741	119645535	13	51350											
NAF1	92345	broad.mit.edu	37	chr4	164050323	164050323	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggaaatcctgaagtctccTgagataccatatgttctgag	13	11	9	8	0	2	3	0	3	2	1	4	5	3	4	3	1	1	1	3	1	5	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:164050323T>C	ENST00000274054.2	-	8	1404	c.1211A>G	c.(1210-1212)cAg>cGg	p.Q404R	NAF1_ENST00000509434.1_Intron|NAF1_ENST00000422287.2_Intron	NM_138386.2	NP_612395.2	Q96HR8	NAF1_HUMAN	nuclear assembly factor 1 ribonucleoprotein	404					rRNA processing|snRNA pseudouridine synthesis	cytoplasm|nucleus|small nucleolar ribonucleoprotein complex	protein binding|snoRNA binding			NS(1)|autonomic_ganglia(1)|endometrium(3)|kidney(3)|large_intestine(1)|lung(10)|ovary(2)	21	all_hematologic(180;0.166)	Prostate(90;0.109)				TGAAGTCTCCTGAGATACCAT	0.458													C	164050323	T	C	164050323	3	2	630	1	0	0	0	0	1	0	0	0	10216	1580	55	3	418	3	NAF1	4	164050323	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08	92541582	164050323	27103953	14	51351											
FAT1	2195	broad.mit.edu	37	chr4	187521295	187521295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgctgacggatgtggcCaccaaaaaacacatagttat	13	9	8	11	1	0	1	0	1	0	0	1	2	1	2	3	2	2	2	3	2	5	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr4:187521295C>T	ENST00000441802.2	-	22	12069	c.11860G>A	c.(11860-11862)Ggc>Agc	p.G3954S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3954	Laminin G-like.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CGGATGTGGCCACCAAAAAAC	0.483										HNSCC(5;0.00058)			T	187521295	C	T	187521295	3	4	630	1	0	0	0	0	1	0	0	0	5738	594	21	2	1930	2	FAT1	4	187521295	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23470972	187521295	3632981	15	51352											
PCDHGA9	56107	broad.mit.edu	37	chr5	140783264	140783264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctcaacggatttaccgaGttaaagtccttgagaacgtg	11	12	10	8	3	1	1	1	1	0	1	2	4	2	2	2	1	4	2	2	1	5	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:140783264G>A	ENST00000573521.1	+	1	745	c.745G>A	c.(745-747)Gtt>Att	p.V249I	PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1														endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATTTACCGAGTTAAAGTCCT	0.537													A	140783264	G	A	140783264	3	1	630	1	0	0	0	0	1	0	0	0	11637	1029	36	2	747	2	PCDHGA9	5	140783264	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		140783264	40131996	16	51353											
MAML1	9794	broad.mit.edu	37	chr5	179192669	179192669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataaagaactgaagcaggagCctgtcgaagacctgccttgc	13	7	11	10	1	0	3	0	1	0	2	1	5	0	4	3	1	5	1	3	1	5	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr5:179192669C>T	ENST00000292599.3	+	2	921	c.658C>T	c.(658-660)Cct>Tct	p.P220S	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	220					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GAAGCAGGAGCCTGTCGAAGA	0.517													T	179192669	C	T	179192669	3	4	630	1	0	0	0	0	1	0	0	0	9280	739	26	2	664	2	MAML1	5	179192669	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	38409405	179192669	1722591	17	51354											
FAM50B	26240	broad.mit.edu	37	chr6	3850550	3850550	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaccggctccgagaggagCtgcgccaagagtgggaggcg	10	3	18	10	4	0	3	0	0	0	3	1	6	1	5	3	4	3	2	3	4	2	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:3850550C>A	ENST00000380274.1	+	1	931	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	FAM50B_ENST00000380272.3_Missense_Mutation_p.L169M			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	169						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				CCGAGAGGAGCTGCGCCAAGA	0.687													A	3850550	C	A	3850550	3	1	630	1	0	0	0	0	1	0	0	0	5629	796	28	4	507	4	FAM50B	6	3850550	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3850550	167264517	18	51355											
NOTCH4	4855	broad.mit.edu	37	chr6	32166813	32166813	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagagctccatgctctcgGcgtcgacgccggatgagctg	7	7	14	13	5	1	2	0	1	1	1	4	5	2	3	2	2	3	3	2	2	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32166813G>A	ENST00000375023.3	-	24	4563	c.4425C>T	c.(4423-4425)cgC>cgT	p.R1475R		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1475	Poly-Arg.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						CATGCTCTCGGCGTCGACGCC	0.677													A	32166813	G	A	32166813	2	1	630	1	0	0	0	0	0	0	0	1	10627	1190	42	2		2	NOTCH4	6	32166813	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	28316263	32166813	138948254	19	51356											
NOTCH4	4855	broad.mit.edu	37	chr6	32190325	32190325	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagcactgtgggcggccCgaggcctggatgtggcagcg	6	5	19	11	3	0	0	0	0	0	0	0	3	0	2	2	6	2	2	2	6	0	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:32190325C>T	ENST00000375023.3	-	3	552	c.414G>A	c.(412-414)tcG>tcA	p.S138S		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	138	EGF-like 3.				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity			NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GTGGGCGGCCCGAGGCCTGGA	0.647													T	32190325	C	T	32190325	2	4	630	1	0	0	0	0	0	0	0	1	10627	639	23	1		1	NOTCH4	6	32190325	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	23512	32190325	138924742	20	51357											
PNPLA1	285848	broad.mit.edu	37	chr6	36262065	36262065	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcagcaggacatctgtccCcgggactgcccggccatctt	6	7	13	15	2	2	0	0	0	2	0	3	2	3	2	4	4	2	2	4	4	0	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:36262065C>A	ENST00000394571.2	+	4	603	c.603C>A	c.(601-603)ccC>ccA	p.P201P	PNPLA1_ENST00000312917.5_Silent_p.P115P|PNPLA1_ENST00000388715.3_Silent_p.P106P	NM_001145717.1	NP_001139189.2	Q8N8W4	PLPL1_HUMAN	patatin-like phospholipase domain containing 1	201					lipid catabolic process		hydrolase activity			breast(1)|kidney(1)|large_intestine(4)|lung(9)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)	22						ACATCTGTCCCCGGGACTGCC	0.607													A	36262065	C	A	36262065	2	1	630	1	0	0	0	0	0	0	0	1	12241	610	22	4		4	PNPLA1	6	36262065	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	4071740	36262065	134853002	21	51358											
PPP2R5D	5528	broad.mit.edu	37	chr6	42974286	42974286	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcccagcaatagcacgcCgccccccacgcagctcagca	9	3	9	20	4	1	0	1	0	0	0	2	0	2	0	5	0	4	5	5	0	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:42974286C>T	ENST00000485511.1	+	3	370	c.191C>T	c.(190-192)cCg>cTg	p.P64L	PPP2R5D_ENST00000394110.3_Missense_Mutation_p.P64L|PPP2R5D_ENST00000461010.1_Intron|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.P56L	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	64					nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			AATAGCACGCCGCCCCCCACG	0.622													T	42974286	C	T	42974286	3	4	630	1	0	0	0	0	1	0	0	0	12477	652	23	1	201	1	PPP2R5D	6	42974286	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	6712221	42974286	128140781	22	51359											
TTBK1	84630	broad.mit.edu	37	chr6	43251409	43251409	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggaggagggggcccgagcGcccctggagaacggcctcgc	6	3	19	13	4	0	1	0	0	0	1	1	5	0	3	4	6	2	0	4	6	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43251409G>A	ENST00000259750.4	+	14	3014	c.2931G>A	c.(2929-2931)gcG>gcA	p.A977A		NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	977						cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGGCCCGAGCGCCCCTGGAGA	0.697													A	43251409	G	A	43251409	2	1	630	1	0	0	0	0	0	0	0	1	16778	1074	38	1		1	TTBK1	6	43251409	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	277123	43251409	127863658	23	51360											
CRIP3	401262	broad.mit.edu	37	chr6	43275627	43275627	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttgtggcagtatggcctcCcattgtgctgggcacaagca	7	10	13	11	0	0	0	0	0	0	0	1	0	1	0	2	3	2	6	2	3	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:43275627C>T	ENST00000372569.3	-	3	150	c.146G>A	c.(145-147)gGg>gAg	p.G49E	CRIP3_ENST00000274990.4_Missense_Mutation_p.G49E|ZNF318_ENST00000607252.1_5'UTR	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	49	LIM zinc-binding 1.					cytoplasm	zinc ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			GTATGGCCTCCCATTGTGCTG	0.607													T	43275627	C	T	43275627	3	4	630	1	0	0	0	0	1	0	0	0	3907	623	22	2	492	2	CRIP3	6	43275627	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	24218	43275627	127839440	24	51361											
ZNF292	23036	broad.mit.edu	37	chr6	87943087	87943087	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatcttgttggatatgAgaattaaacatctaatcaaa	15	13	6	7	0	3	1	1	1	2	1	4	3	4	2	1	1	1	1	1	1	6	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr6:87943087A>G	ENST00000369577.3	+	5	626	c.583A>G	c.(583-585)Aga>Gga	p.R195G	ZNF292_ENST00000339907.4_Missense_Mutation_p.R190G	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	195					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GTTGGATATGAGAATTAAACA	0.308													G	87943087	A	G	87943087	3	3	630	1	0	0	0	0	1	0	0	0	17927	296	11	3	601	3	ZNF292	6	87943087	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08	44667460	87943087	83171980	25	51362											
KIAA1147	57189	broad.mit.edu	37	chr7	141362626	141362626	+	Frame_Shift_Del	DEL	T	T	-																															ctccaacaaagtctgaaataTccggttgttttgttctagga																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr7:141362626delT	ENST00000536163.1	-	9	1197	c.1198delA	c.(1198-1200)atafs	p.I400fs	KIAA1147_ENST00000482493.1_Frame_Shift_Del_p.I296fs	NM_001080392.1	NP_001073861.1	A4D1U4	LCHN_HUMAN	KIAA1147	400										breast(3)|endometrium(4)|kidney(2)|large_intestine(1)|ovary(1)|skin(1)	12	Melanoma(164;0.0171)					GTCTGAAATATCCGGTTGTTT	0.502													-	141362626	T	-	141362626	7	5	630	1	0	1	0	1	0	0	0	0	8268	1435	50	0	173	0	KIAA1147	7	141362626	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08		141362626	17776037	26	51363											
RUNX1T1	862	broad.mit.edu	37	chr8	92972658	92972658	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgatggtgcttctcccagtCtttgtgctggcaaaatgagc	7	13	12	9	0	2	2	0	2	2	0	3	2	2	2	1	2	3	3	1	2	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:92972658C>G	ENST00000523629.1	-	12	2081	c.1627G>C	c.(1627-1629)Gac>Cac	p.D543H	RUNX1T1_ENST00000422361.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.D506H|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.D554H|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.D516H|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.D543H|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.D506H	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	543					generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TTCTCCCAGTCTTTGTGCTGG	0.567													G	92972658	C	G	92972658	3	3	630	1	0	0	0	0	1	0	0	0	13838	913	32	4	191	4	RUNX1T1	8	92972658	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		92972658	53391364	27	51364											
PLEC	5339	broad.mit.edu	37	chr8	144995732	144995732	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccacaccctccttcacagCctcgttgacggtcagccgcc	7	7	7	20	3	2	1	2	1	0	0	4	1	3	1	6	1	2	1	6	1	0	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr8:144995732C>T	ENST00000322810.4	-	32	8837	c.8668G>A	c.(8668-8670)Gct>Act	p.A2890T	PLEC_ENST00000398774.2_Missense_Mutation_p.A2721T|PLEC_ENST00000436759.2_Missense_Mutation_p.A2780T|PLEC_ENST00000345136.3_Missense_Mutation_p.A2753T|PLEC_ENST00000357649.2_Missense_Mutation_p.A2757T|PLEC_ENST00000527096.1_Missense_Mutation_p.A2776T|PLEC_ENST00000354589.3_Missense_Mutation_p.A2753T|PLEC_ENST00000354958.2_Missense_Mutation_p.A2731T|PLEC_ENST00000356346.3_Missense_Mutation_p.A2739T	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2890	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						TCCTTCACAGCCTCGTTGACG	0.687													T	144995732	C	T	144995732	3	4	630	1	0	0	0	0	1	0	0	0	12129	739	26	2	5390	2	PLEC	8	144995732	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	52023074	144995732	1368290	28	51365											
SPINK4	27290	broad.mit.edu	37	chr9	33221060	33221060	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccctgctgggggatgcttcGcacacagaccgtcttccaga	7	9	11	14	2	1	2	0	0	1	2	4	3	3	3	3	2	2	3	3	2	0	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:33221060G>A	ENST00000379725.1	+	2	206	c.84G>A	c.(82-84)tcG>tcA	p.S28S	SPINK4_ENST00000379723.1_Silent_p.S28S			O60575	ISK4_HUMAN	serine peptidase inhibitor, Kazal type 4	0						extracellular region	serine-type endopeptidase inhibitor activity			lung(1)	1			LUSC - Lung squamous cell carcinoma(29;0.00506)			GGGATGCTTCGCACACAGACC	0.517													A	33221060	G	A	33221060	2	1	630	1	0	0	0	0	0	0	0	1	15157	1102	38	1		1	SPINK4	9	33221060	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		33221060	107992371	29	51366											
GNE	10020	broad.mit.edu	37	chr9	36249251	36249251	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaaagaactcaggttcGgttttaatgccaaacatgat	14	12	8	7	1	2	2	2	1	0	1	3	2	2	2	1	2	3	3	1	2	4	4	rs147290887		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:36249251G>A	ENST00000396594.3	-	2	306	c.195C>T	c.(193-195)acC>acT	p.T65T	GNE_ENST00000377902.5_Silent_p.T34T|GNE_ENST00000543356.2_Intron|GNE_ENST00000539208.1_Intron|GNE_ENST00000539815.1_Silent_p.T34T|GNE_ENST00000447283.2_Silent_p.T34T	NM_001128227.2	NP_001121699.1	Q9Y223	GLCNE_HUMAN	glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase	34					cell adhesion|lipopolysaccharide biosynthetic process|N-acetylneuraminate metabolic process|UDP-N-acetylglucosamine metabolic process		ATP binding|N-acylmannosamine kinase activity|UDP-N-acetylglucosamine 2-epimerase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGGTTCGGTTTTAATGC	0.408													A	36249251	G	A	36249251	2	1	630	1	0	0	0	0	0	0	0	1	6578	1103	39	1		1	GNE	9	36249251	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	3028191	36249251	104964180	30	51367											
FPGS	2356	broad.mit.edu	37	chr9	130570869	130570869	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtccgatgctggaggcCctcgaggaaggggggccgcc	5	6	18	12	3	0	0	0	0	0	0	2	4	1	2	4	6	1	1	4	6	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:130570869C>G	ENST00000373225.3	+	10	914	c.705C>G	c.(703-705)gcC>gcG	p.A235A	FPGS_ENST00000373245.1_Intron|FPGS_ENST00000373247.2_Silent_p.A285A|FPGS_ENST00000393706.2_Silent_p.A259A|FPGS_ENST00000460181.1_3'UTR	NM_001018078.1	NP_001018088.1	Q05932	FOLC_HUMAN	folylpolyglutamate synthase	285					folic acid metabolic process|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|one-carbon metabolic process	cytosol|mitochondrial matrix	ATP binding|tetrahydrofolylpolyglutamate synthase activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)	7					L-Glutamic Acid(DB00142)	TGCTGGAGGCCCTCGAGGAAG	0.687													G	130570869	C	G	130570869	2	3	630	1	0	0	0	0	0	0	0	1	6087	610	22	4		4	FPGS	9	130570869	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08	94321618	130570869	10642562	31	51368											
NOTCH1	4851	broad.mit.edu	37	chr9	139412597	139412597	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggcacctacccagcgagCactcatccacgtcctggctg	7	7	10	17	2	1	0	1	0	0	0	3	1	3	0	4	2	3	4	4	2	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr9:139412597C>A	ENST00000277541.6	-	7	1322	c.1247G>T	c.(1246-1248)tGc>tTc	p.C416F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	416	EGF-like 11; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ACCCAGCGAGCACTCATCCAC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139412597	C	A	139412597	3	1	630	1	0	0	0	0	1	0	0	0	10623	710	25	4	6532	4	NOTCH1	9	139412597	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	8841728	139412597	1800834	32	51369											
KIAA1217	56243	broad.mit.edu	37	chr10	24832988	24832988	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccggaactaaaacagggAagaagactttgcaagtggta	16	6	12	7	1	0	2	0	0	0	2	0	4	0	4	1	3	3	3	1	3	7	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:24832988A>T	ENST00000376451.2	+	14	4098	c.3838A>T	c.(3838-3840)Aag>Tag	p.K1280*	KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000376454.3_Nonsense_Mutation_p.K1597*|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000376452.3_Intron			Q5T5P2	SKT_HUMAN	KIAA1217	1597					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TAAAACAGGGAAGAAGACTTT	0.463													T	24832988	A	T	24832988	4	4	630	1	0	0	0	0	0	1	0	0	8274	247	9	5	4863	5	KIAA1217	10	24832988	Nonsense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		24832988	110701759	33	51370											
AGAP5	729092	broad.mit.edu	37	chr10	75457306	75457306	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaccttcaggcatctcctGgtcacgaatgtggtgcatgt	7	13	10	11	1	3	0	2	0	1	0	4	1	3	0	2	3	2	2	2	3	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:75457306G>A	ENST00000443782.2	-	1	333	c.208C>T	c.(208-210)Cag>Tag	p.Q70*	RP11-464F9.1_ENST00000399449.3_RNA|AGAP5_ENST00000374094.4_Nonsense_Mutation_p.Q70*			A6NIR3	AGAP5_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 5	70					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(5)|skin(1)	12						GGCATCTCCTGGTCACGAATG	0.592													A	75457306	G	A	75457306	4	1	630	1	0	0	0	0	0	1	0	0	371	1357	47	2	1884	2	AGAP5	10	75457306	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	50624318	75457306	60077441	34	51371											
HELLS	3070	broad.mit.edu	37	chr10	96352241	96352241	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacttcagcaggcttgatggGtccatgtcttactcagagag	10	11	11	9	0	3	2	2	1	1	1	4	3	4	2	1	2	3	2	1	2	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:96352241G>A	ENST00000348459.5	+	17	2046	c.1941G>A	c.(1939-1941)ggG>ggA	p.G647G	HELLS_ENST00000394036.1_3'UTR|HELLS_ENST00000394045.1_Silent_p.G549G|HELLS_ENST00000371332.4_Silent_p.G693G|RP11-119K6.6_ENST00000432120.1_RNA|HELLS_ENST00000239026.6_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	647	Helicase C-terminal.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGCTTGATGGGTCCATGTCTT	0.343													A	96352241	G	A	96352241	2	1	630	1	0	0	0	0	0	0	0	1	7101	1248	44	2		2	HELLS	10	96352241	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	20894935	96352241	39182506	35	51372											
SLIT1	6585	broad.mit.edu	37	chr10	98764460	98764460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagccctacctgtagatggCagagctggggtagctgcctg	8	8	15	10	0	0	2	0	0	0	2	0	3	0	2	3	3	5	5	3	3	4	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr10:98764460C>T	ENST00000266058.4	-	33	3945	c.3700G>A	c.(3700-3702)Gcc>Acc	p.A1234T	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.A1234T	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1234	Laminin G-like.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		CTGTAGATGGCAGAGCTGGGG	0.602													T	98764460	C	T	98764460	3	4	630	1	0	0	0	0	1	0	0	0	14833	710	25	2	924	2	SLIT1	10	98764460	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2412219	98764460	36770287	36	51373											
DIXDC1	85458	broad.mit.edu	37	chr11	111835363	111835363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgcgacaagatctcCgggatggggtgatcctggca	9	7	15	10	2	1	2	0	1	1	1	3	5	2	4	3	5	1	1	3	5	1	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:111835363C>T	ENST00000440460.2	+	2	448	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	DIXDC1_ENST00000389821.4_3'UTR|DIXDC1_ENST00000531396.1_Missense_Mutation_p.R51W|DIXDC1_ENST00000529225.1_Missense_Mutation_p.R50W	NM_001037954.2	NP_001033043.1	Q155Q3	DIXC1_HUMAN	DIX domain containing 1	51	CH.				multicellular organismal development|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytosol|focal adhesion	actin binding|gamma-tubulin binding|signal transducer activity			cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	17		all_cancers(61;7.58e-15)|all_epithelial(67;5.42e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;2.99e-07)|BRCA - Breast invasive adenocarcinoma(274;6.72e-07)|all cancers(92;6.25e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0548)		ACAAGATCTCCGGGATGGGGT	0.517													T	111835363	C	T	111835363	3	4	630	1	0	0	0	0	1	0	0	0	4580	643	23	1	157	1	DIXDC1	11	111835363	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		111835363	23171153	37	51374											
TTC12	54970	broad.mit.edu	37	chr11	113215006	113215006	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgcagaggaaaaccagcGtgtgctagtgatacaccatg	12	10	11	8	1	0	2	0	1	0	1	0	3	0	3	2	1	5	2	2	1	4	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:113215006G>A	ENST00000393020.1	+	13	1403	c.998G>A	c.(997-999)cGt>cAt	p.R333H	TTC12_ENST00000314756.3_Missense_Mutation_p.R333H|TTC12_ENST00000483239.2_Missense_Mutation_p.R339H|TTC12_ENST00000478125.1_3'UTR|TTC12_ENST00000529221.1_Missense_Mutation_p.R333H			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	333							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		GAAAACCAGCGTGTGCTAGTG	0.532													A	113215006	G	A	113215006	3	1	630	1	0	0	0	0	1	0	0	0	16781	1145	40	1	1044	1	TTC12	11	113215006	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1379643	113215006	21791510	38	51375											
GLB1L2	89944	broad.mit.edu	37	chr11	134228963	134228988	+	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	GACCGTGGCATTGTGGAACTGCTCCT	-																															ttcccccacaggcactggagGaccgtggcattgtggaactg																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr11:134228963_134228988delGACCGTGGCATTGTGGAACTGCTCCT	ENST00000535456.2	+	7	849_874	c.661_686delGACCGTGGCATTGTGGAACTGCTCCT	c.(661-687)gaccgtggcattgtggaactgctcctgfs	p.DRGIVELLL221fs	GLB1L2_ENST00000339772.7_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000389881.3_Frame_Shift_Del_p.DRGIVELLL221fs|GLB1L2_ENST00000529077.1_3'UTR	NM_138342.3	NP_612351.2	Q8IW92	GLBL2_HUMAN	galactosidase, beta 1-like 2	221					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	p.L228I(1)|p.V225L(1)|p.R222H(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41	all_hematologic(175;0.127)	all_cancers(12;2.85e-18)|all_epithelial(12;1.21e-12)|all_lung(97;0.000276)|Lung NSC(97;0.000518)|Breast(109;0.00122)|Medulloblastoma(222;0.0399)|all_neural(223;0.0412)|Esophageal squamous(93;0.0844)		Epithelial(10;1.37e-11)|all cancers(11;2.2e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000885)|Lung(977;0.223)		GGCACTGGAGGACCGTGGCATTGTGGAACTGCTCCTGACTTCAGAC	0.606													-	134228988	GACCGTGGCATTGTGGAACTGCTCCT	-	134228963	7	5	630	1	0	1	0	1	0	0	0	0	6485	1174	41	0	687	0	GLB1L2	11	134228963	Frame_Shift_Del	DEL	GACCGTGGCATTGTGGAACTGCTCCT	TCGA-IK-8125-01A-11D-2253-08	21013957	134228963	777553	39	51376											
MAP3K12	7786	broad.mit.edu	37	chr12	53877509	53877509	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgatgtccagggcgtgtcTgcaacgggcagaaaggttcc	8	8	14	11	2	1	2	0	1	1	1	3	2	3	2	3	3	2	3	3	3	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:53877509T>A	ENST00000267079.2	-	10	1485		c.e10-2		MAP3K12_ENST00000547035.1_Splice_Site|MAP3K12_ENST00000547488.1_Splice_Site	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGGCGTGTCTGCAACGGGCA	0.507													A	53877509	T	A	53877509	5	1	630	1	0	0	0	0	0	0	1	0	9321	1594	55	5	1345	5	MAP3K12	12	53877509	Splice_Site	SNP	T	TCGA-IK-8125-01A-11D-2253-08		53877509	79974386	40	51377											
SMUG1	23583	broad.mit.edu	37	chr12	54577582	54577582	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agatgatgcccacaggctccGaaaactgcagctggctcagc	11	6	11	13	1	1	2	1	1	0	1	2	3	2	2	2	2	5	4	2	2	2	0	rs149806805	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:54577582G>A	ENST00000505128.1	-	3	265	c.143C>T	c.(142-144)tCg>tTg	p.S48L	SMUG1_ENST00000506595.1_Missense_Mutation_p.S48L|SMUG1_ENST00000514196.1_Missense_Mutation_p.S48L|SMUG1_ENST00000508394.2_Missense_Mutation_p.S48L|SMUG1_ENST00000505662.1_5'UTR|SMUG1_ENST00000243112.5_Missense_Mutation_p.S48L|SMUG1_ENST00000401977.2_Missense_Mutation_p.S48L|SMUG1_ENST00000513838.1_Missense_Mutation_p.S48L|SMUG1_ENST00000514685.1_Missense_Mutation_p.S48L|SMUG1_ENST00000337581.3_Missense_Mutation_p.S48L			Q53HV7	SMUG1_HUMAN	single-strand-selective monofunctional uracil-DNA glycosylase 1	48				S -> L (in Ref. 3; BAC03670).	depyrimidination	nucleolus|nucleoplasm	DNA binding|protein binding|single-strand selective uracil DNA N-glycosylase activity			kidney(1)|large_intestine(4)|lung(1)	6						CACAGGCTCCGAAAACTGCAG	0.597								Base excision repair (BER), DNA glycosylases					A	54577582	G	A	54577582	3	1	630	1	0	0	0	0	1	0	0	0	14912	1059	37	1	677	1	SMUG1	12	54577582	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	700073	54577582	79274313	41	51378											
TBX5	6910	broad.mit.edu	37	chr12	114793348	114793348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcctcactttagctattgtCgctccactctggcaccatgc	6	12	8	15	1	2	0	1	0	1	0	4	0	3	0	3	2	2	3	3	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr12:114793348C>T	ENST00000310346.4	-	9	2212	c.1546G>A	c.(1546-1548)Gac>Aac	p.D516N	TBX5_ENST00000349716.5_Missense_Mutation_p.D466N|TBX5_ENST00000405440.2_Missense_Mutation_p.D516N	NM_000192.3	NP_000183.2	Q99593	TBX5_HUMAN	T-box 5	516				PRTLSPHQYHSVHGVGMVPEWSDNS -> QGLYPLISTTLC TELAWCRVERQ (in Ref. 1; CAA70592).	cardiac left ventricle formation|cell migration involved in coronary vasculogenesis|cell-cell signaling|embryonic arm morphogenesis|induction of apoptosis|negative regulation of cardiac muscle cell proliferation|negative regulation of cell migration|negative regulation of epithelial to mesenchymal transition|pericardium development|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|ventricular septum development	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(29)|ovary(6)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	Medulloblastoma(191;0.163)|all_neural(191;0.178)			BRCA - Breast invasive adenocarcinoma(302;0.0893)		TAGCTATTGTCGCTCCACTCT	0.517													T	114793348	C	T	114793348	3	4	630	1	0	0	0	0	1	0	0	0	15761	884	31	1	14	1	TBX5	12	114793348	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	60215766	114793348	19058547	42	51379											
TRPM1	4308	broad.mit.edu	37	chr15	31359319	31359319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgccccatggagcaattcCtatagcacaaacccggcctc	11	7	8	15	1	0	0	0	0	0	0	2	2	1	1	5	2	4	2	5	2	4	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:31359319C>T	ENST00000542188.1	-	5	929	c.616G>A	c.(616-618)Gga>Aga	p.G206R	TRPM1_ENST00000397795.2_Missense_Mutation_p.G167R|TRPM1_ENST00000256552.6_Missense_Mutation_p.G189R	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	167					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		GGAGCAATTCCTATAGCACAA	0.453													T	31359319	C	T	31359319	3	4	630	1	0	0	0	0	1	0	0	0	16686	690	24	2	4404	2	TRPM1	15	31359319	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08		31359319	71172073	43	51380											
SPPL2A	84888	broad.mit.edu	37	chr15	51017471	51017471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaggcatgaggcacacaCtcattactgagaaatagatc	17	7	8	9	0	1	3	1	2	0	2	2	4	1	3	0	2	2	2	0	2	4	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:51017471C>G	ENST00000261854.5	-	12	1470	c.1196G>C	c.(1195-1197)aGt>aCt	p.S399T	SPPL2A_ENST00000559293.1_5'UTR	NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	399						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		GAGGCACACACTCATTACTGA	0.313													G	51017471	C	G	51017471	3	3	630	1	0	0	0	0	1	0	0	0	15184	565	20	4	382	4	SPPL2A	15	51017471	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	19658152	51017471	51513921	44	51381											
UNC13C	440279	broad.mit.edu	37	chr15	54825250	54825250	+	Frame_Shift_Del	DEL	T	T	-																															gtgttaagatctcttatggaTtttttggacaaaacgtaagt																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:54825250delT	ENST00000545554.1	+	25	5682	c.5682delT	c.(5680-5682)gatfs	p.D1894fs	UNC13C_ENST00000260323.11_Frame_Shift_Del_p.D1894fs|UNC13C_ENST00000537900.1_Frame_Shift_Del_p.D1892fs			Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	1894	MHD2.				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		CTCTTATGGATTTTTTGGACA	0.343													-	54825250	T	-	54825250	7	5	630	1	0	1	0	1	0	0	0	0	17088	1490	52	0	5776	0	UNC13C	15	54825250	Frame_Shift_Del	DEL	T	TCGA-IK-8125-01A-11D-2253-08	3807779	54825250	47706142	45	51382											
TPM1	7168	broad.mit.edu	37	chr15	63336271	63336271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaagaaactcaagggcaccGaagatgaactggacaaatac	20	4	9	8	1	1	3	1	1	0	2	1	5	1	4	1	2	3	1	1	2	8	1	rs104894505		TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:63336271G>A	ENST00000357980.4	+	3	365	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	TPM1_ENST00000267996.7_Intron|TPM1_ENST00000403994.3_Missense_Mutation_p.E54K|TPM1_ENST00000358278.3_Missense_Mutation_p.E54K|TPM1_ENST00000560445.1_Missense_Mutation_p.E54K|TPM1_ENST00000559556.1_Missense_Mutation_p.E54K|TPM1_ENST00000288398.6_Missense_Mutation_p.E54K|TPM1_ENST00000559397.1_Intron			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	54					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						CAAGGGCACCGAAGATGAACT	0.562													A	63336271	G	A	63336271	3	1	630	1	0	0	0	0	1	0	0	0	16506	1059	37	1	296	1	TPM1	15	63336271	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	8511021	63336271	39195121	46	51383											
NEO1	4756	broad.mit.edu	37	chr15	73428355	73428355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaattgaagctcaagcagaGcttacagtgcaaggtatgta	15	9	10	7	0	1	2	1	1	0	1	1	2	1	2	0	1	5	6	0	1	7	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr15:73428355G>C	ENST00000339362.5	+	6	1449	c.1002G>C	c.(1000-1002)gaG>gaC	p.E334D	NEO1_ENST00000560262.1_Missense_Mutation_p.E334D|NEO1_ENST00000261908.6_Missense_Mutation_p.E334D|NEO1_ENST00000558964.1_Missense_Mutation_p.E334D			Q92859	NEO1_HUMAN	neogenin 1	334	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						CTCAAGCAGAGCTTACAGTGC	0.373													C	73428355	G	C	73428355	3	2	630	1	0	0	0	0	1	0	0	0	10412	962	34	4	1020	4	NEO1	15	73428355	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	10092084	73428355	29103037	47	51384											
SPATA22	84690	broad.mit.edu	37	chr17	3366004	3366004	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatatttctccacatacccgGtgtccactgttttcattaca	9	16	4	12	1	2	0	1	0	1	0	4	0	3	0	3	1	2	1	3	1	4	7			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr17:3366004G>A	ENST00000573128.1	-	4	713	c.230C>T	c.(229-231)aCc>aTc	p.T77I	SPATA22_ENST00000268981.5_Missense_Mutation_p.T77I|SPATA22_ENST00000575375.1_Missense_Mutation_p.T77I|SPATA22_ENST00000572969.1_Missense_Mutation_p.T77I|SPATA22_ENST00000541913.1_Missense_Mutation_p.T61I|SPATA22_ENST00000355380.4_Missense_Mutation_p.T34I|SPATA22_ENST00000397168.3_Missense_Mutation_p.T77I			Q8NHS9	SPT22_HUMAN	spermatogenesis associated 22	77										breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(8)|skin(2)	19						CACATACCCGGTGTCCACTGT	0.363													A	3366004	G	A	3366004	3	1	630	1	0	0	0	0	1	0	0	0	15104	1261	44	2	885	2	SPATA22	17	3366004	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08		3366004	77829206	48	51385											
SMAD2	4087	broad.mit.edu	37	chr18	45422914	45422914	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtatggtaacacatttagTattacagttttgagtggtga	11	16	11	3	0	0	2	0	2	0	0	0	2	0	2	0	3	2	4	0	3	5	8			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr18:45422914T>C	ENST00000402690.2	-	2	608	c.214A>G	c.(214-216)Act>Gct	p.T72A	SMAD2_ENST00000262160.6_Missense_Mutation_p.T72A|SMAD2_ENST00000586040.1_Missense_Mutation_p.T72A|SMAD2_ENST00000356825.4_Missense_Mutation_p.T72A|SMAD2_ENST00000591214.1_Missense_Mutation_p.T72A	NM_001003652.3	NP_001003652.1	Q15796	SMAD2_HUMAN	SMAD family member 2	72	MH1.				anterior/posterior pattern formation|cell fate commitment|common-partner SMAD protein phosphorylation|intracellular signal transduction|mesoderm formation|negative regulation of transcription, DNA-dependent|palate development|paraxial mesoderm morphogenesis|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription from RNA polymerase II promoter|primary miRNA processing|regulation of binding|regulation of transforming growth factor beta receptor signaling pathway|response to cholesterol|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway|zygotic specification of dorsal/ventral axis	activin responsive factor complex|cytosol	activating transcription factor binding|co-SMAD binding|double-stranded DNA binding|I-SMAD binding|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity|type I transforming growth factor beta receptor binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(21)|liver(1)|lung(8)|prostate(2)|urinary_tract(1)	43						ACACATTTAGTATTACAGTTT	0.368													C	45422914	T	C	45422914	3	2	630	1	0	0	0	0	1	0	0	0	14852	1638	57	3	1229	3	SMAD2	18	45422914	Missense_Mutation	SNP	T	TCGA-IK-8125-01A-11D-2253-08		45422914	32654334	49	51386											
DAPK3	1613	broad.mit.edu	37	chr19	3964722	3964722	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggcctcgtcctccgtcagCgactccttctccgccaggaa	5	9	10	17	4	2	0	1	0	1	0	7	2	5	1	6	2	1	0	6	2	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:3964722C>T	ENST00000545797.2	-	3	573	c.330G>A	c.(328-330)tcG>tcA	p.S110S	DAPK3_ENST00000301264.3_Silent_p.S110S			O43293	DAPK3_HUMAN	death-associated protein kinase 3	110	Protein kinase.				apoptosis|chromatin modification|induction of apoptosis|intracellular protein kinase cascade	cytoplasm|PML body	ATP binding|leucine zipper domain binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTCCGTCAGCGACTCCTTCT	0.592													T	3964722	C	T	3964722	2	4	630	1	0	0	0	0	0	0	0	1	4271	755	27	1		1	DAPK3	19	3964722	Silent	SNP	C	TCGA-IK-8125-01A-11D-2253-08		3964722	55164261	50	51387											
C3	718	broad.mit.edu	37	chr19	6718386	6718386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacggtcacgaacttgttgCgccccttttctgacttgaac	7	12	9	13	3	2	2	1	2	1	0	2	3	2	2	2	1	3	2	2	1	2	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:6718386C>T	ENST00000245907.6	-	3	397	c.305G>A	c.(304-306)cGc>cAc	p.R102H		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	102			R -> G (in allele C3F; associated with ARMD9; dbSNP:rs2230199).		complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACTTGTTGCGCCCCTTTTC	0.607													T	6718386	C	T	6718386	3	4	630	1	0	0	0	0	1	0	0	0	2225	768	27	1	4842	1	C3	19	6718386	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	2753664	6718386	52410597	51	51388											
ZNF878	729747	broad.mit.edu	37	chr19	12154973	12154973	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctctcctgtgtgagttcGtatgtgcttttgaaggactg	5	18	11	7	1	1	2	0	2	1	0	4	3	2	3	1	1	1	3	1	1	2	5			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:12154973G>A	ENST00000602107.1	-	5	1383	c.1384C>T	c.(1384-1386)Cga>Tga	p.R462*	CTD-2006C1.2_ENST00000591898.1_RNA|CTD-2006C1.2_ENST00000591838.1_RNA|ZNF878_ENST00000547628.1_Nonsense_Mutation_p.R415*|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.10_ENST00000547473.1_Intron			C9JN71	ZN878_HUMAN	zinc finger protein 878	415					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						GTGTGAGTTCGTATGTGCTTT	0.433													A	12154973	G	A	12154973	4	1	630	1	0	0	0	0	0	1	0	0	18295	1153	40	1	356	1	ZNF878	19	12154973	Nonsense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	5436587	12154973	46974010	52	51389											
NOTCH3	4854	broad.mit.edu	37	chr19	15299837	15299837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaactggcctatgcggtcGaggcacgtggcctggtttcg	5	10	16	10	4	0	1	0	1	0	0	2	2	0	1	2	5	2	2	2	5	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:15299837G>A	ENST00000263388.2	-	8	1416	c.1341C>T	c.(1339-1341)ctC>ctT	p.L447L		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	447	EGF-like 11; calcium-binding (Potential).				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CTATGCGGTCGAGGCACGTGG	0.667													A	15299837	G	A	15299837	2	1	630	1	0	0	0	0	0	0	0	1	10626	1045	37	1		1	NOTCH3	19	15299837	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08	3144864	15299837	43829146	53	51390											
CIC	23152	broad.mit.edu	37	chr19	42797750	42797750	+	Frame_Shift_Del	DEL	A	A	-																															catctccaccccaggccagcAaattccccagctcatcttca																										TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:42797750delA	ENST00000572681.2	+	17	6591	c.6523delA	c.(6523-6525)aaafs	p.K2175fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.K1268fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.K1266fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1268					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGGCCAGCAAATTCCCCAG	0.637			"Mis, F, S"		oligodendroglioma								-	42797750	A	-	42797750	7	5	630	1	0	1	0	1	0	0	0	0	3454	131	5	0	3864	0	CIC	19	42797750	Frame_Shift_Del	DEL	A	TCGA-IK-8125-01A-11D-2253-08	27497913	42797750	16331233	54	51391											
ZNF223	7766	broad.mit.edu	37	chr19	44571252	44571252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcataagagactccattgccGaaaaaaaccattcaaatgtg	17	9	6	9	1	2	1	2	0	0	1	3	3	3	1	3	0	2	0	3	0	5	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:44571252G>A	ENST00000591793.1	+	7	1684	c.1601G>A	c.(1600-1602)cGa>cAa	p.R534Q	ZNF223_ENST00000434772.3_Missense_Mutation_p.R424Q			Q9UK11	ZN223_HUMAN	zinc finger protein 223	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	18		Prostate(69;0.0352)				CTCCATTGCCGAAAAAAACCA	0.413													A	44571252	G	A	44571252	3	1	630	1	0	0	0	0	1	0	0	0	17878	1058	37	1	1285	1	ZNF223	19	44571252	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	1773502	44571252	14557731	55	51392											
TEAD2	8463	broad.mit.edu	37	chr19	49845721	49845721	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaagttttccaggaCgctgttcatcatgtatcgct	8	14	11	8	2	2	1	2	1	0	0	4	3	3	2	1	2	0	5	1	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:49845721C>T	ENST00000377214.4	-	10	1575	c.1213G>A	c.(1213-1215)Gtc>Atc	p.V405I	TEAD2_ENST00000593945.1_Missense_Mutation_p.V406I|TEAD2_ENST00000539846.1_Missense_Mutation_p.V274I|TEAD2_ENST00000601519.1_Missense_Mutation_p.V405I|TEAD2_ENST00000311227.2_Missense_Mutation_p.V402I|TEAD2_ENST00000598810.1_Missense_Mutation_p.V406I			Q15562	TEAD2_HUMAN	TEA domain family member 2	402	Transcriptional activation (Potential).				hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	29		all_lung(116;7.65e-05)|Lung NSC(112;0.000132)|all_neural(266;0.0506)|Ovarian(192;0.15)		OV - Ovarian serous cystadenocarcinoma(262;0.00093)|GBM - Glioblastoma multiforme(486;0.0467)		TTTTCCAGGACGCTGTTCATC	0.572													T	49845721	C	T	49845721	3	4	630	1	0	0	0	0	1	0	0	0	15839	536	19	1	147	1	TEAD2	19	49845721	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	5274469	49845721	9283262	56	51393											
U2AF2	11338	broad.mit.edu	37	chr19	56175034	56175034	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcatcttccagggccaGtcactaaagatccgcaggcc	10	7	10	14	1	3	1	2	0	1	1	5	1	5	1	4	3	0	2	4	3	2	2			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr19:56175034G>C	ENST00000450554.2	+	7	1625	c.666G>C	c.(664-666)caG>caC	p.Q222H	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000308924.4_Missense_Mutation_p.Q222H|CTD-2537I9.12_ENST00000589456.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.Q58H	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	222	RRM 1.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		TCCAGGGCCAGTCACTAAAGA	0.567													C	56175034	G	C	56175034	3	2	630	1	0	0	0	0	1	0	0	0	16925	1020	36	4	692	4	U2AF2	19	56175034	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	6329313	56175034	2953949	57	51394											
COL18A1	80781	broad.mit.edu	37	chr21	46909433	46909433	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctgggctgccgggggcgAaggtaagcgctgtgcccggg	4	6	20	11	4	0	0	0	0	0	0	0	1	0	0	3	5	4	3	3	5	2	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr21:46909433A>G	ENST00000359759.4	+	18	3223	c.3202A>G	c.(3202-3204)Aag>Gag	p.K1068E	COL18A1_ENST00000400337.2_Missense_Mutation_p.K653E|COL18A1_ENST00000355480.5_Missense_Mutation_p.K833E			P39060	COIA1_HUMAN	collagen, type XVIII, alpha 1	1068	Triple-helical region 4 (COL4).				cell adhesion|negative regulation of cell proliferation|organ morphogenesis|visual perception	collagen|extracellular space	extracellular matrix structural constituent|metal ion binding|protein binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25				Colorectal(79;0.0157)|READ - Rectum adenocarcinoma(84;0.0929)		GCCGGGGGCGAAGGTAAGCGC	0.706													G	46909433	A	G	46909433	3	3	630	1	0	0	0	0	1	0	0	0	3706	247	9	3	3386	3	COL18A1	21	46909433	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		46909433	1220462	58	51395											
PARVB	29780	broad.mit.edu	37	chr22	44489821	44489821	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaacagtgagtgacctgcaGgaagaaggcaagaatgccat	15	6	12	8	0	1	4	1	2	0	2	1	5	1	5	2	2	3	2	2	2	5	0			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chr22:44489821G>A	ENST00000338758.7	+	2	189	c.126G>A	c.(124-126)caG>caA	p.Q42Q	PARVB_ENST00000477795.1_3'UTR|PARVB_ENST00000406477.3_Silent_p.Q75Q|PARVB_ENST00000404989.1_Silent_p.Q5Q	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta						cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GTGACCTGCAGGAAGAAGGCA	0.547													A	44489821	G	A	44489821	2	1	630	1	0	0	0	0	0	0	0	1	11545	991	35	2		2	PARVB	22	44489821	Silent	SNP	G	TCGA-IK-8125-01A-11D-2253-08		44489821	6814745	59	51396											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	630	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-IK-8125-01A-11D-2253-08		37028425	118242135	60	51397											
FTSJ1	24140	broad.mit.edu	37	chrX	48339829	48339829	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagatattccgaggccggGatgtgacgctcctctacagc	8	9	12	12	3	1	2	0	1	1	1	3	4	3	3	3	2	3	2	3	2	2	3			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:48339829G>T	ENST00000019019.2	+	9	913	c.484G>T	c.(484-486)Gat>Tat	p.D162Y	FTSJ1_ENST00000348411.2_Missense_Mutation_p.D162Y|FTSJ1_ENST00000456787.1_Missense_Mutation_p.D162Y|FTSJ1_ENST00000396894.4_Missense_Mutation_p.D25Y|FTSJ1_ENST00000496365.1_3'UTR	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	162					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						CCGAGGCCGGGATGTGACGCT	0.602													T	48339829	G	T	48339829	3	4	630	1	0	0	0	0	1	0	0	0	6139	1174	41	4	510	4	FTSJ1	23	48339829	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	11311404	48339829	106930731	61	51398											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	10	9	9	13	1	1	2	0	2	1	0	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C|LHFPL1_ENST00000478229.1_Intron	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592													A	111914414	G	A	111914414	3	1	630	1	0	0	0	0	1	0	0	0	8824	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-IK-8125-01A-11D-2253-08	63574585	111914414	43356146	62	51399											
NSDHL	50814	broad.mit.edu	37	chrX	152037637	152037637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaggaccgtgcagagctttCgccacctgcggagggtcaag	9	6	15	11	3	1	2	1	0	0	2	2	4	1	4	3	3	3	2	3	3	1	1			TCGA-IK-8125-01A-11D-2253-08	TCGA-IK-8125-10A-01D-2253-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a94ffa8-b014-46c2-b0fc-e2ec18aa0d03	572ef2b3-0fb8-450b-9850-765fa3c1e051	g.chrX:152037637C>T	ENST00000370274.3	+	8	1293	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	NSDHL_ENST00000440023.1_Missense_Mutation_p.R367C	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	367					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCAGAGCTTTCGCCACCTGCG	0.552													T	152037637	C	T	152037637	3	4	630	1	0	0	0	0	1	0	0	0	10746	884	31	1	1125	1	NSDHL	23	152037637	Missense_Mutation	SNP	C	TCGA-IK-8125-01A-11D-2253-08	40123223	152037637	3232923	63	51400											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	631	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		209113112	34086261	1	51401											
KBTBD8	84541	broad.mit.edu	37	chr3	67054339	67054339	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcacaggaagggtgtttaaActatgcaaaccaccaaatga	16	8	9	8	0	1	1	1	1	0	0	1	2	1	2	2	2	3	2	2	2	6	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr3:67054339A>G	ENST00000295568.4	+	3	1001	c.870A>G	c.(868-870)aaA>aaG	p.K290K	KBTBD8_ENST00000417314.2_Silent_p.K316K|KBTBD8_ENST00000460576.1_Intron	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	316										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GGGTGTTTAAACTATGCAAAC	0.433													G	67054339	A	G	67054339	2	3	631	1	0	0	0	0	0	0	0	1	8057	40	2	3		3	KBTBD8	3	67054339	Silent	SNP	A	TCGA-KT-A74X-01A-11D-A32B-08		67054339	130968091	2	51402											
CRIPAK	285464	broad.mit.edu	37	chr4	1388930	1388931	+	Frame_Shift_Ins	INS	-	-	CA																															atgtggagtgcctgcctgctINScacacgtgcccatgtggagt																								rs71299249		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr4:1388930_1388931insCA	ENST00000324803.4	+	1	3591_3592	c.631_632insCA	c.(631-633)tcafs	p.S211fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	211					ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			GCCTGCCTGCTCACACGTGCCC	0.663													CA	1388931	-	CA	1388930	7	5	631	1	0	1	1	0	0	0	0	0	3908	1551	54	0	633	0	CRIPAK	4	1388930	Frame_Shift_Ins	INS	-	TCGA-KT-A74X-01A-11D-A32B-08		1388930	189765346	3	51403											
PIK3R1	5295	broad.mit.edu	37	chr5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-																															tttcaagaaaaaagtcgagaAtatgatagattatatgaaga																										TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589634	ATATGATAGATT	-	67589623	7	5	631	1	0	1	0	1	0	0	0	0	11995	98	4	0	1554	0	PIK3R1	5	67589623	In_Frame_Del	DEL	ATATGATAGATT	TCGA-KT-A74X-01A-11D-A32B-08		67589623	113325637	4	51404											
HSD17B8	7923	broad.mit.edu	37	chr6	33172796	33172796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gacggtgcggctgctgggcgGgccagggagcaaggaggggc	6	3	23	9	3	0	0	0	0	0	0	0	3	0	2	1	8	3	3	1	8	1	0			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:33172796G>A	ENST00000374662.3	+	2	197	c.170G>A	c.(169-171)gGg>gAg	p.G57E	HSD17B8_ENST00000469186.1_3'UTR	NM_014234.4	NP_055049.1	Q92506	DHB8_HUMAN	hydroxysteroid (17-beta) dehydrogenase 8	57					estrogen biosynthetic process|fatty acid biosynthetic process	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|estradiol 17-beta-dehydrogenase activity|protein binding|testosterone 17-beta-dehydrogenase (NAD+) activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	9					NADH(DB00157)	CTGCTGGGCGGGCCAGGGAGC	0.721													A	33172796	G	A	33172796	3	1	631	1	0	0	0	0	1	0	0	0	7444	1232	43	2	176	2	HSD17B8	6	33172796	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		33172796	137942271	5	51405											
SLC26A8	116369	broad.mit.edu	37	chr6	35980123	35980123	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaaagattgtaagcacgCatcgtaggaacctgtgccat	13	8	12	8	2	0	1	0	0	0	1	1	3	0	3	2	2	3	4	2	2	4	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:35980123C>T	ENST00000490799.1	-	3	568	c.215G>A	c.(214-216)tGc>tAc	p.C72Y	SLC26A8_ENST00000355574.2_Missense_Mutation_p.C72Y|SLC26A8_ENST00000394602.2_Missense_Mutation_p.C72Y	NM_052961.3	NP_443193.1	Q96RN1	S26A8_HUMAN	solute carrier family 26 (anion exchanger), member 8	72					cell differentiation|meiosis|multicellular organismal development|spermatogenesis	integral to membrane|plasma membrane	anion:anion antiporter activity|chloride channel activity|oxalate transmembrane transporter activity|protein binding|sulfate transmembrane transporter activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(6)|lung(16)|ovary(3)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	46						TGTAAGCACGCATCGTAGGAA	0.458													T	35980123	C	T	35980123	3	4	631	1	0	0	0	0	1	0	0	0	14617	710	25	2	2769	2	SLC26A8	6	35980123	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08	2807327	35980123	135134944	6	51406											
GPR111	222611	broad.mit.edu	37	chr6	47647929	47647929	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagatctgtcttgtgtaatTagaaacattcagcagtctcc	12	13	7	9	0	4	2	1	0	3	2	5	2	4	2	1	0	2	2	1	0	3	4			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr6:47647929T>C	ENST00000398742.2	+	4	439	c.390T>C	c.(388-390)atT>atC	p.I130I	GPR111_ENST00000296862.1_Silent_p.I198I|GPR111_ENST00000507065.1_Silent_p.I130I			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	198					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						CTTGTGTAATTAGAAACATTC	0.383													C	47647929	T	C	47647929	2	2	631	1	0	0	0	0	0	0	0	1	6682	1742	61	3		3	GPR111	6	47647929	Silent	SNP	T	TCGA-KT-A74X-01A-11D-A32B-08	11667806	47647929	123467138	7	51407											
SEMA3E	9723	broad.mit.edu	37	chr7	83029362	83029362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgtcccaataaacaagaCgtcatattggccatcctcag	13	9	6	13	1	2	1	2	0	0	1	4	1	4	1	4	1	1	0	4	1	5	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:83029362C>T	ENST00000307792.3	-	11	1815	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I	SEMA3E_ENST00000427262.1_Missense_Mutation_p.V390I	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	450	Sema.				axon guidance	extracellular space|membrane	receptor activity			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				ATAAACAAGACGTCATATTGG	0.333													T	83029362	C	T	83029362	3	4	631	1	0	0	0	0	1	0	0	0	14121	536	19	1	1007	1	SEMA3E	7	83029362	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		83029362	76109301	8	51408											
PUS7	54517	broad.mit.edu	37	chr7	105148879	105148879	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtttttttgtctcttcAactgggactccactgtcatt	5	20	6	10	0	4	0	2	0	2	0	6	1	5	1	1	1	1	1	1	1	1	6			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:105148879A>G	ENST00000356362.2	-	2	295	c.81T>C	c.(79-81)gtT>gtC	p.V27V	PUS7_ENST00000469408.1_Silent_p.V27V	NM_019042.3	NP_061915.2	Q96PZ0	PUS7_HUMAN	pseudouridylate synthase 7 homolog (S. cerevisiae)	27					pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(8)|pancreas(1)|skin(1)	23						TTGTCTCTTCAACTGGGACTC	0.473													G	105148879	A	G	105148879	2	3	631	1	0	0	0	0	0	0	0	1	12921	117	5	3		3	PUS7	7	105148879	Silent	SNP	A	TCGA-KT-A74X-01A-11D-A32B-08	22119517	105148879	53989784	9	51409											
CNOT4	4850	broad.mit.edu	37	chr7	135073582	135073582	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacttgtaggctgctgTccttgttgtaatgaatggga	8	14	14	5	0	0	2	0	1	0	1	1	4	1	3	1	3	1	5	1	3	3	5			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr7:135073582T>C	ENST00000428680.2	-	11	1962	c.1683A>G	c.(1681-1683)ggA>ggG	p.G561G	CNOT4_ENST00000315544.5_Silent_p.G564G|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron|CNOT4_ENST00000356162.4_Intron|CNOT4_ENST00000451834.1_Intron|CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000541284.1_Intron	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	564					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TAGGCTGCTGTCCTTGTTGTA	0.488													C	135073582	T	C	135073582	2	2	631	1	0	0	0	0	0	0	0	1	3652	1654	58	3		3	CNOT4	7	135073582	Silent	SNP	T	TCGA-KT-A74X-01A-11D-A32B-08	29924703	135073582	24065081	10	51410											
RAD54B	25788	broad.mit.edu	37	chr8	95403999	95403999	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctgtagtgctcctggtcgGcaaaagacaacattctctat	11	12	8	10	1	2	1	0	0	2	1	5	1	3	1	1	2	2	3	1	2	5	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr8:95403999G>A	ENST00000336148.5	-	10	1771	c.1647C>T	c.(1645-1647)tgC>tgT	p.C549C		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding	p.C549C(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			CTCCTGGTCGGCAAAAGACAA	0.398								Direct reversal of damage;Homologous recombination					A	95403999	G	A	95403999	2	1	631	1	0	0	0	0	0	0	0	1	13080	1195	42	2		2	RAD54B	8	95403999	Silent	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		95403999	50960023	11	51411											
DHTKD1	55526	broad.mit.edu	37	chr10	12131003	12131003	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctgatgttccgtaaaatgCgaggcttaagtgaatttcca	12	12	10	7	2	0	2	0	2	0	0	2	3	2	2	2	1	2	4	2	1	4	4			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:12131003C>T	ENST00000263035.4	+	5	798	c.736C>T	c.(736-738)Cga>Tga	p.R246*	DHTKD1_ENST00000465617.1_Intron	NM_018706.5	NP_061176	Q96HY7	DHTK1_HUMAN	dehydrogenase E1 and transketolase domain containing 1	246					glycolysis	mitochondrion	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)|upper_aerodigestive_tract(1)	44		Renal(717;0.228)	BRCA - Breast invasive adenocarcinoma(52;0.188)			CCGTAAAATGCGAGGCTTAAG	0.458													T	12131003	C	T	12131003	4	4	631	1	0	0	0	0	0	1	0	0	4539	760	27	1	754	1	DHTKD1	10	12131003	Nonsense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		12131003	123403744	12	51412											
ARMC3	219681	broad.mit.edu	37	chr10	23326258	23326258	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcggagagtacggtagagcGtggaatgaagtcatgctgca	11	7	16	7	4	1	3	1	1	0	2	1	5	1	4	0	3	4	4	0	3	4	2			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:23326258G>A	ENST00000298032.5	+	19	2553	c.2469G>A	c.(2467-2469)gcG>gcA	p.A823A	ARMC3_ENST00000376528.4_Silent_p.A560A|ARMC3_ENST00000409983.3_Silent_p.A816A	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	823							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ACGGTAGAGCGTGGAATGAAG	0.542													A	23326258	G	A	23326258	2	1	631	1	0	0	0	0	0	0	0	1	957	1132	40	1		1	ARMC3	10	23326258	Silent	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	11195255	23326258	112208489	13	51413											
KCNMA1	3778	broad.mit.edu	37	chr10	79397261	79397263	+	In_Frame_Del	DEL	GAA	GAA	-																															aggaggaagaagaagaagagGaagaggaggaggaggaggag																										TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr10:79397261_79397263delGAA	ENST00000286627.5	-	1	1090_1092	c.138_140delTTC	c.(136-141)tcttcc>tcc	p.46_47SS>S	KCNMA1_ENST00000404857.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000372440.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000372443.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000480683.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000481070.1_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000404771.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000286628.8_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000406533.3_In_Frame_Del_p.46_47SS>S|KCNMA1_ENST00000354353.5_In_Frame_Del_p.46_47SS>S	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	46	Poly-Ser.				cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	agaagaagaggaagaggaggagg	0.616													-	79397263	GAA	-	79397261	7	5	631	1	0	1	0	1	0	0	0	0	8131	1174	41	0	3854	0	KCNMA1	10	79397261	In_Frame_Del	DEL	GAA	TCGA-KT-A74X-01A-11D-A32B-08	56071003	79397261	56137486	14	51414											
LMO1	4004	broad.mit.edu	37	chr11	8252034	8252034	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttccctttgggctggaCggagagcatcggcacgcctg	5	9	14	13	3	0	1	0	0	0	1	2	3	1	2	2	4	2	4	2	4	0	2			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr11:8252034C>T	ENST00000335790.3	-	2	538	c.43G>A	c.(43-45)Gtc>Atc	p.V15I	LMO1_ENST00000428101.2_Missense_Mutation_p.V14I|LMO1_ENST00000534484.1_Missense_Mutation_p.V4I	NM_002315.2	NP_002306.1	P25800	RBTN1_HUMAN	LIM domain only 1 (rhombotin 1)	15					cell proliferation|multicellular organismal development|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(1)|kidney(1)|skin(1)	5				Epithelial(150;1.59e-07)|BRCA - Breast invasive adenocarcinoma(625;0.203)		TTGGGCTGGACGGAGAGCATC	0.592			"T, A"	TRD@	"T-ALL, neuroblastoma"	neuroblastoma							T	8252034	C	T	8252034	3	4	631	1	0	0	0	0	1	0	0	0	8912	536	19	1	439	1	LMO1	11	8252034	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		8252034	126754482	15	51415											
NEK3	4752	broad.mit.edu	37	chr13	52725327	52725327	+	Frame_Shift_Del	DEL	A	A	-																															ccaaatttctggaggcacatAataaggagttcccacatagg																										TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr13:52725327delA	ENST00000400357.2	-	6	1795	c.502delT	c.(502-504)tatfs	p.Y168fs	NEK3_ENST00000339406.3_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000378101.2_Frame_Shift_Del_p.Y168fs|NEK3_ENST00000452082.2_Frame_Shift_Del_p.Y189fs			P51956	NEK3_HUMAN	NIMA-related kinase 3	168	Interaction with VAV2.|Protein kinase.				cell division|mitosis	nucleus	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		GGAGGCACATAATAAGGAGTT	0.393													-	52725327	A	-	52725327	7	5	631	1	0	1	0	1	0	0	0	0	10401	362	13	0	1058	0	NEK3	13	52725327	Frame_Shift_Del	DEL	A	TCGA-KT-A74X-01A-11D-A32B-08		52725327	62444551	16	51416											
WDR25	79446	broad.mit.edu	37	chr14	100934452	100934452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggctccctgtggccggcGcatcctcagtggtggctttg	2	11	16	12	2	1	0	1	0	0	0	3	0	3	0	3	5	0	3	3	5	0	1			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr14:100934452G>A	ENST00000335290.6	+	3	1143	c.917G>A	c.(916-918)cGc>cAc	p.R306H	WDR25_ENST00000402312.3_Missense_Mutation_p.R306H|WDR25_ENST00000554998.1_Missense_Mutation_p.R306H|WDR25_ENST00000542471.2_Missense_Mutation_p.R49H	NM_024515.4	NP_078791.3	Q64LD2	WDR25_HUMAN	WD repeat domain 25	306										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|skin(1)	20		Melanoma(154;0.212)				TGTGGCCGGCGCATCCTCAGT	0.637													A	100934452	G	A	100934452	3	1	631	1	0	0	0	0	1	0	0	0	17384	1087	38	1	923	1	WDR25	14	100934452	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		100934452	6415088	17	51417											
NOTCH3	4854	broad.mit.edu	37	chr19	15298084	15298084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcgatgccatccacgcagcGaccatggtggcatgggtcag	8	6	15	12	3	1	0	1	0	0	0	2	2	2	0	3	4	2	2	3	4	0	0	rs75068032		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:15298084G>A	ENST00000263388.2	-	11	1747	c.1672C>T	c.(1672-1674)Cgc>Tgc	p.R558C		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	558	EGF-like 14; calcium-binding (Potential).		R -> C (in CADASIL).		Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			TCCACGCAGCGACCATGGTGG	0.652													A	15298084	G	A	15298084	3	1	631	1	0	0	0	0	1	0	0	0	10626	1058	37	1	5385	1	NOTCH3	19	15298084	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08		15298084	43830899	18	51418											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	7	6	12	16	3	2	0	1	0	1	0	4	1	3	0	4	3	3	2	4	3	1	1			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								A	42791758	G	A	42791758	3	1	631	1	0	0	0	0	1	0	0	0	3454	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	27493674	42791758	16337225	19	51419											
NSFL1C	55968	broad.mit.edu	37	chr20	1433682	1433682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctttttcactcaccctctgCggatagactccagaaactgg	9	11	8	13	1	3	2	2	0	1	2	4	3	4	3	2	2	2	1	2	2	2	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:1433682C>T	ENST00000216879.4	-	6	1508	c.641G>A	c.(640-642)cGc>cAc	p.R214H	NSFL1C_ENST00000350991.4_Missense_Mutation_p.R216H|NSFL1C_ENST00000381658.4_Missense_Mutation_p.R103H|NSFL1C_ENST00000476071.1_Missense_Mutation_p.R216H|NSFL1C_ENST00000353088.2_Missense_Mutation_p.R183H|NSFL1C_ENST00000461211.1_5'UTR	NM_016143.4	NP_057227.2	Q9UNZ2	NSF1C_HUMAN	NSFL1 (p97) cofactor (p47)	214	SEP.					chromosome|Golgi stack|nucleus	lipid binding|protein binding			breast(1)|large_intestine(5)|lung(6)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	16						TCACCCTCTGCGGATAGACTC	0.458													T	1433682	C	T	1433682	3	4	631	1	0	0	0	0	1	0	0	0	10748	768	27	1	487	1	NSFL1C	20	1433682	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		1433682	61591838	20	51420											
ASIP	434	broad.mit.edu	37	chr20	32856864	32856864	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgccctgcgtggccacccGcaacagctgcaagccgccgg	6	4	13	18	5	0	0	0	0	0	0	0	0	0	0	5	2	6	3	5	2	2	0			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr20:32856864G>T	ENST00000568305.1	+	4	492	c.290G>T	c.(289-291)cGc>cTc	p.R97L	RP4-785G19.5_ENST00000512005.1_RNA|ASIP_ENST00000374954.3_Missense_Mutation_p.R97L			P42127	ASIP_HUMAN	agouti signaling protein	97	Agouti.				cell-cell signaling|generation of precursor metabolites and energy|hormone-mediated signaling pathway	extracellular space				central_nervous_system(1)|lung(2)	3						GTGGCCACCCGCAACAGCTGC	0.701													T	32856864	G	T	32856864	3	4	631	1	0	0	0	0	1	0	0	0	1048	1087	38	4	300	4	ASIP	20	32856864	Missense_Mutation	SNP	G	TCGA-KT-A74X-01A-11D-A32B-08	31423182	32856864	30168656	21	51421											
BRWD1	54014	broad.mit.edu	37	chr21	40670456	40670456	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatccaacataggaccgatgCgctggcagatttgcaaaaga	14	8	10	9	2	0	2	0	0	0	2	1	4	1	3	2	2	3	3	2	2	5	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:40670456C>T	ENST00000342449.3	-	5	329	c.251G>A	c.(250-252)cGc>cAc	p.R84H	BRWD1_ENST00000470108.1_5'UTR|BRWD1_ENST00000333229.2_Missense_Mutation_p.R84H|BRWD1_ENST00000380800.3_Missense_Mutation_p.R84H|BRWD1_ENST00000341322.4_Missense_Mutation_p.R84H	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	84					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				AGGACCGATGCGCTGGCAGAT	0.408													T	40670456	C	T	40670456	3	4	631	1	0	0	0	0	1	0	0	0	1534	768	27	1	7116	1	BRWD1	21	40670456	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		40670456	7459439	22	51422											
TRPM2	7226	broad.mit.edu	37	chr21	45861581	45861581	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttgttcttccagaacctgCacgcctgcgactcgggggcc	5	9	11	16	3	1	1	0	0	1	1	3	2	2	1	5	2	3	2	5	2	1	3			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr21:45861581C>T	ENST00000397928.1	+	32	4838	c.4393C>T	c.(4393-4395)Cac>Tac	p.H1465Y	TRPM2_ENST00000498430.1_3'UTR|TRPM2_ENST00000300481.9_Missense_Mutation_p.H1411Y|TRPM2_ENST00000397932.2_Missense_Mutation_p.H1515Y|TRPM2_ENST00000300482.5_Missense_Mutation_p.H1465Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	1465	Nudix hydrolase.					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						CCAGAACCTGCACGCCTGCGA	0.662													T	45861581	C	T	45861581	3	4	631	1	0	0	0	0	1	0	0	0	16687	710	25	2	4519	2	TRPM2	21	45861581	Missense_Mutation	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08	5191125	45861581	2268314	23	51423											
MN1	4330	broad.mit.edu	37	chr22	28194895	28194900	+	In_Frame_Del	DEL	TGCTGT	TGCTGT	-																															tttggcgctgctgctgctgcTgctgttgctgttgctgttgc																								rs75719175		TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chr22:28194895_28194900delTGCTGT	ENST00000302326.4	-	1	2586_2591	c.1632_1637delACAGCA	c.(1630-1638)caacagcag>cag	p.544_546QQQ>Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	544	Poly-Gln.						binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						ctgctgctgctgctgttgctgttgct	0.646			T	ETV6	"AML, meningioma"								-	28194900	TGCTGT	-	28194895	7	5	631	1	0	1	0	1	0	0	0	0	9749	1580	55	0	2333	0	MN1	22	28194895	In_Frame_Del	DEL	TGCTGT	TCGA-KT-A74X-01A-11D-A32B-08		28194895	23109671	24	51424											
SATL1	340562	broad.mit.edu	37	chrX	84362997	84362997	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggccacatgcctggttggctCctacctaattgccatgtgcc	6	11	10	14	0	0	0	0	0	0	0	1	0	1	0	6	3	4	2	6	3	2	4			TCGA-KT-A74X-01A-11D-A32B-08	TCGA-KT-A74X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a77fe08f-c159-4135-a722-a811e62197e4	39a20f83-87e5-4f70-a8b8-c470c6ba2ef3	g.chrX:84362997C>T	ENST00000509231.1	-	1	1057	c.978G>A	c.(976-978)agG>agA	p.R326R	SATL1_ENST00000395409.3_Silent_p.R139R|SATL1_ENST00000332921.5_Silent_p.R139R			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	139	Gln-rich.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CTGGTTGGCTCCTACCTAATT	0.527													T	84362997	C	T	84362997	2	4	631	1	0	0	0	0	0	0	0	1	13947	854	30	2		2	SATL1	23	84362997	Silent	SNP	C	TCGA-KT-A74X-01A-11D-A32B-08		84362997	70907563	25	51425											
PTPRC	5788	broad.mit.edu	37	chr1	198676002	198676002	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggtgcataaccttacagaAtgtaaaaatgcgtctgtttc	13	12	9	7	1	1	1	0	0	1	1	2	2	1	1	1	1	4	3	1	1	6	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:198676002A>G	ENST00000367376.2	+	9	990	c.819A>G	c.(817-819)gaA>gaG	p.E273E	PTPRC_ENST00000352140.3_Silent_p.E225E|PTPRC_ENST00000442510.2_Silent_p.E275E|PTPRC_ENST00000594404.1_Silent_p.E112E|PTPRC_ENST00000348564.6_Silent_p.E114E	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	273					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						ACCTTACAGAATGTAAAAATG	0.318													G	198676002	A	G	198676002	2	3	632	1	0	0	0	0	0	0	0	1	12885	98	4	3		3	PTPRC	1	198676002	Silent	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08		198676002	50574619	1	51426											
KCNH1	3756	broad.mit.edu	37	chr1	211307260	211307260	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgttttgaggggccactaGtcccctcctgcccccagcca	5	9	10	17	1	0	1	0	1	0	0	2	1	2	1	7	2	2	1	7	2	1	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr1:211307260G>A	ENST00000367007.4	-	1	197	c.28C>T	c.(28-30)Cta>Tta	p.L10L	KCNH1_ENST00000271751.4_Silent_p.L10L	NM_002238.3|NM_172362.2	NP_002229.1|NP_758872.1	O95259	KCNH1_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 1	10					myoblast fusion|regulation of transcription, DNA-dependent	voltage-gated potassium channel complex	calmodulin binding|delayed rectifier potassium channel activity|two-component sensor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|lung(35)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	68				OV - Ovarian serous cystadenocarcinoma(81;0.0109)|all cancers(67;0.141)|Epithelial(68;0.185)		GGGGCCACTAGTCCCCTCCTG	0.607											OREG0014229	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	211307260	G	A	211307260	2	1	632	1	0	0	0	0	0	0	0	1	8089	1020	36	2		2	KCNH1	1	211307260	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	12631258	211307260	37943361	2	51427											
C2orf48	348738	broad.mit.edu	37	chr2	10350625	10350625	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcaccaagaatgcacagaggGcgctgggctccaagcttcag	11	6	12	12	1	2	2	2	0	0	2	3	2	3	2	2	2	2	4	2	2	3	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:10350625G>A	ENST00000381786.3	+	4	671	c.382G>A	c.(382-384)Gcg>Acg	p.A128T		NM_182626.2	NP_872432.1	Q96LS8	CB048_HUMAN	chromosome 2 open reading frame 48	128										endometrium(1)|lung(7)	8	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.188)		TGCACAGAGGGCGCTGGGCTC	0.587													A	10350625	G	A	10350625	3	1	632	1	0	0	0	0	1	0	0	0	2191	1203	42	2	392	2	C2orf48	2	10350625	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		10350625	232848748	3	51428											
TTN	7273	broad.mit.edu	37	chr2	179473345	179473345	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaacttaccaaatggatcttTagccacaagtggctttgaaa	15	11	7	8	0	1	1	0	1	1	0	1	2	1	2	2	2	3	1	2	2	6	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179473345T>C	ENST00000589042.1	-	274	52617	c.52393A>G	c.(52393-52395)Aaa>Gaa	p.K17465E	TTN_ENST00000342992.6_Missense_Mutation_p.K14897E|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.K8592E|TTN_ENST00000591111.1_Missense_Mutation_p.K15824E|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.K8400E|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.K8525E|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15824	Ig-like 103.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATGGATCTTTAGCCACAAGT	0.363													C	179473345	T	C	179473345	3	2	632	1	0	0	0	0	1	0	0	0	16837	1763	61	3	55656	3	TTN	2	179473345	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	169122720	179473345	63726028	4	51429											
TTN	7273	broad.mit.edu	37	chr2	179495965	179495965	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctaatttcacactgtagaaTaacttcatctttctctacac	12	15	3	11	0	4	1	2	0	2	1	5	1	4	1	0	0	2	2	0	0	5	7			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr2:179495965T>A	ENST00000589042.1	-	237	44034	c.43810A>T	c.(43810-43812)Att>Ttt	p.I14604F	TTN_ENST00000342992.6_Missense_Mutation_p.I12036F|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.I5731F|TTN_ENST00000591111.1_Missense_Mutation_p.I12963F|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.I5539F|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.I5664F|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	12963	Fibronectin type-III 5.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTGTAGAATAACTTCATCT	0.353													A	179495965	T	A	179495965	3	1	632	1	0	0	0	0	1	0	0	0	16837	1406	49	5	64387	5	TTN	2	179495965	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	22620	179495965	63703408	5	51430											
PIK3CA	5290	broad.mit.edu	37	chr3	178947827	178947827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacctgtttacacgttcatGtgctggatactgtgtagcta	8	15	10	8	1	1	1	1	1	0	0	1	2	1	2	1	1	4	5	1	1	4	6			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr3:178947827G>T	ENST00000263967.3	+	19	2859	c.2702G>T	c.(2701-2703)tGt>tTt	p.C901F		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	901	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C901F(7)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			ACACGTTCATGTGCTGGATAC	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178947827	G	T	178947827	3	4	632	1	0	0	0	0	1	0	0	0	11990	1377	48	4	2772	4	PIK3CA	3	178947827	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		178947827	19074603	6	51431											
RBM47	54502	broad.mit.edu	37	chr4	40440525	40440525	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgtagttgttgagctcaCgcactgcgcgcttggcctcg	4	12	12	13	5	2	1	1	1	1	0	4	1	2	1	1	1	2	6	1	1	1	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:40440525C>T	ENST00000319592.4	-	4	1095	c.386G>A	c.(385-387)cGt>cAt	p.R129H	RBM47_ENST00000381793.2_Missense_Mutation_p.R129H|RBM47_ENST00000381795.6_Missense_Mutation_p.R129H|RBM47_ENST00000515809.1_Intron|RBM47_ENST00000295971.7_Missense_Mutation_p.R129H|RBM47_ENST00000514014.1_Missense_Mutation_p.R91H			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	129	RRM 1.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GTTGAGCTCACGCACTGCGCG	0.627													T	40440525	C	T	40440525	3	4	632	1	0	0	0	0	1	0	0	0	13229	536	19	1	1411	1	RBM47	4	40440525	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		40440525	150713751	7	51432											
IBSP	3381	broad.mit.edu	37	chr4	88732645	88732645	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaggcataaacggcacCagtaccaacagcacagaggc	17	2	10	12	1	0	1	0	0	0	1	0	2	0	1	2	3	5	4	2	3	6	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:88732645C>A	ENST00000226284.5	+	7	604	c.537C>A	c.(535-537)acC>acA	p.T179T		NM_004967.3	NP_004958.2	P21815	SIAL_HUMAN	integrin-binding sialoprotein	179					biomineral tissue development|cell adhesion|ossification					breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(10)	21		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000333)|COAD - Colon adenocarcinoma(81;0.154)		TAAACGGCACCAGTACCAACA	0.483													A	88732645	C	A	88732645	2	1	632	1	0	0	0	0	0	0	0	1	7533	581	21	4		4	IBSP	4	88732645	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	48292120	88732645	102421631	8	51433											
TKTL2	84076	broad.mit.edu	37	chr4	164394265	164394265	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtattccatccaaaggcttCacagcaattctggtagatgt	12	12	8	9	0	2	1	1	0	1	1	4	1	4	1	2	2	1	4	2	2	4	5			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:164394265C>A	ENST00000280605.3	-	1	782	c.622G>T	c.(622-624)Gaa>Taa	p.E208*		NM_032136.4	NP_115512.3	Q9H0I9	TKTL2_HUMAN	transketolase-like 2	208						cytoplasm	metal ion binding|transketolase activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(42)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	70	all_hematologic(180;0.166)	Prostate(90;0.0959)|all_neural(102;0.223)				CCAAAGGCTTCACAGCAATTC	0.517													A	164394265	C	A	164394265	4	1	632	1	0	0	0	0	0	1	0	0	16036	835	29	4	1262	4	TKTL2	4	164394265	Nonsense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	75661620	164394265	26760011	9	51434											
TRIML1	339976	broad.mit.edu	37	chr4	189068385	189068385	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggacatatagcattctacaaCgggacggatgaatccctcat	13	9	9	10	2	2	1	1	1	1	0	3	4	3	4	1	3	3	1	1	3	5	4	rs145647080	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr4:189068385C>T	ENST00000332517.3	+	6	1406	c.1266C>T	c.(1264-1266)aaC>aaT	p.N422N	TRIML1_ENST00000507581.1_3'UTR	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	422	B30.2/SPRY.				multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CATTCTACAACGGGACGGATG	0.517													T	189068385	C	T	189068385	2	4	632	1	0	0	0	0	0	0	0	1	16651	535	19	1		1	TRIML1	4	189068385	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	24674120	189068385	2085891	10	51435											
ADCY2	108	broad.mit.edu	37	chr5	7626306	7626306	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gccaatgtgatcattttcatCtgtgggaacctggcgggagc	8	11	13	9	1	3	1	2	1	1	0	3	3	3	3	2	3	2	0	2	3	2	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:7626306C>G	ENST00000338316.4	+	4	686	c.597C>G	c.(595-597)atC>atG	p.I199M		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	199				VWQILANVIIFICGNLAGAY -> GLADPGQCDHFHLWEPG XTN (in Ref. 1; AAP97285).	activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCATTTTCATCTGTGGGAACC	0.448													G	7626306	C	G	7626306	3	3	632	1	0	0	0	0	1	0	0	0	294	903	32	4	611	4	ADCY2	5	7626306	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		7626306	173288954	11	51436											
FST	10468	broad.mit.edu	37	chr5	52779405	52779405	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagaacaaaccccgctgcGtctgcgccccggattgttcc	9	7	10	15	4	1	2	0	0	1	2	2	3	2	3	5	1	4	2	5	1	3	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:52779405G>A	ENST00000396947.3	+	3	515	c.349G>A	c.(349-351)Gtc>Atc	p.V117I	FST_ENST00000256759.3_Missense_Mutation_p.V117I	NM_006350.3	NP_006341.1	P19883	FST_HUMAN	follistatin	117	Follistatin-like 1.|Kazal-like 1.				hemopoietic progenitor cell differentiation|negative regulation of activin receptor signaling pathway|negative regulation of follicle-stimulating hormone secretion|negative regulation of transcription from RNA polymerase II promoter|positive regulation of hair follicle development	extracellular region	activin binding|protein binding|signal transducer activity			breast(1)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|urinary_tract(1)	15		Ovarian(174;1.78e-06)|Lung NSC(810;3.55e-06)|Breast(144;4.08e-05)				ACCCCGCTGCGTCTGCGCCCC	0.507													A	52779405	G	A	52779405	3	1	632	1	0	0	0	0	1	0	0	0	6128	1145	40	1	359	1	FST	5	52779405	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	45153099	52779405	128135855	12	51437											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725296	140725296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcccgagatcctgtaccccGccctccccacagacggttcc	6	6	8	21	4	0	2	0	0	0	2	3	3	3	2	8	1	1	2	8	1	1	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr5:140725296G>A	ENST00000253812.6	+	1	1696	c.1696G>A	c.(1696-1698)Gcc>Acc	p.A566T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGTACCCCGCCCTCCCCAC	0.667													A	140725296	G	A	140725296	3	1	632	1	0	0	0	0	1	0	0	0	11631	1087	38	1	1698	1	PCDHGA3	5	140725296	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	87945891	140725296	40189964	13	51438											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	632	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		55221822	103916841	14	51439											
EGFR	1956	broad.mit.edu	37	chr7	55241677	55241677	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctctcttgaggatcttgaagGaaactgaattcaaaaagatc	15	11	8	7	0	3	4	1	3	2	1	5	6	3	6	0	2	1	0	0	2	5	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241677G>A	ENST00000275493.2	+	18	2302	c.2125G>A	c.(2125-2127)Gaa>Aaa	p.E709K	EGFR_ENST00000454757.2_Missense_Mutation_p.E656K|EGFR_ENST00000455089.1_Missense_Mutation_p.E664K|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	709			E -> A (found in a lung cancer sample).|E -> K (found in a lung cancer sample).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.E709K(16)|p.E709H(2)|p.E709fs*1(1)|p.E709Q(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GATCTTGAAGGAAACTGAATT	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241677	G	A	55241677	3	1	632	1	0	0	0	0	1	0	0	0	5006	1175	41	2	2459	2	EGFR	7	55241677	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	19855	55241677	103896986	15	51440			1	79		2	2	32	G		5.307264e-05
EGFR	1956	broad.mit.edu	37	chr7	55241708	55241708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caaaaagatcaaagtgctggGctccggtgcgttcggcacgg	10	7	14	10	4	1	1	1	0	0	1	3	1	2	1	1	4	2	4	1	4	3	1	rs121913428		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:55241708G>A	ENST00000275493.2	+	18	2333	c.2156G>A	c.(2155-2157)gGc>gAc	p.G719D	EGFR_ENST00000454757.2_Missense_Mutation_p.G666D|EGFR_ENST00000455089.1_Missense_Mutation_p.G674D|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	719	Protein kinase.		G -> A (found in a lung cancer sample).|G -> C (found in a lung cancer sample; dbSNP:rs28929495).|G -> D (found in a lung cancer sample).|G -> S (found in a lung cancer sample; somatic mutation; strongly increased kinase activity).		activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G719A(27)|p.G719D(4)|p.G719fs*29(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGTGCTGGGCTCCGGTGCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			A	55241708	G	A	55241708	3	1	632	1	0	0	0	0	1	0	0	0	5006	1203	42	2	2490	2	EGFR	7	55241708	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	31	55241708	103896955	16	51441			1	79		2	2	32	G		5.307264e-05
PLXNA4	91584	broad.mit.edu	37	chr7	131844257	131844257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccatatctgcagctttgggCcggtgggagcaaggcacatt	8	10	13	10	1	1	0	0	0	1	0	2	1	2	1	2	4	3	4	2	4	2	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr7:131844257C>T	ENST00000359827.3	-	25	5597	c.4635G>A	c.(4633-4635)cgG>cgA	p.R1545R	PLXNA4_ENST00000321063.4_Silent_p.R1545R			Q9HCM2	PLXA4_HUMAN	plexin A4	1545						integral to membrane|intracellular|plasma membrane				NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CAGCTTTGGGCCGGTGGGAGC	0.557													T	131844257	C	T	131844257	2	4	632	1	0	0	0	0	0	0	0	1	12199	726	26	2		2	PLXNA4	7	131844257	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	76602549	131844257	27294406	17	51442											
OPRK1	4986	broad.mit.edu	37	chr8	54142151	54142151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggagtccagcagacgacGaagactgccaccaccaccag	13	3	11	14	2	0	2	0	0	0	2	1	5	1	3	5	1	2	1	5	1	1	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr8:54142151G>A	ENST00000265572.3	-	4	1146	c.849C>T	c.(847-849)ttC>ttT	p.F283F	OPRK1_ENST00000524278.1_Silent_p.F194F|OPRK1_ENST00000520287.1_Silent_p.F283F|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	283					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	AGCAGACGACGAAGACTGCCA	0.577													A	54142151	G	A	54142151	2	1	632	1	0	0	0	0	0	0	0	1	10961	1049	37	1		1	OPRK1	8	54142151	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		54142151	92221871	18	51443											
SEC16A	9919	broad.mit.edu	37	chr9	139371999	139371999	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgctagcccagaacacGctccgaggattcccggctgg	7	6	14	14	3	0	1	0	0	0	1	2	3	2	2	3	4	3	4	3	4	2	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr9:139371999G>A	ENST00000313050.7	-	1	142	c.69C>T	c.(67-69)agC>agT	p.S23S		NM_014866.1	NP_055681.1	O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1999					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		CCCAGAACACGCTCCGAGGAT	0.597													A	139371999	G	A	139371999	2	1	632	1	0	0	0	0	0	0	0	1	14079	1078	38	1		1	SEC16A	9	139371999	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		139371999	1841432	19	51444											
OR51E2	81285	broad.mit.edu	37	chr11	4703280	4703280	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagttgcagaaccgttcgtAttatcagaaaataggacaag	15	9	10	7	2	1	2	1	0	0	2	2	3	1	3	1	1	2	5	1	1	7	5			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:4703280A>G	ENST00000396950.3	-	2	901	c.662T>C	c.(661-663)aTa>aCa	p.I221T		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	221					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		AACCGTTCGTATTATCAGAAA	0.488													G	4703280	A	G	4703280	3	3	632	1	0	0	0	0	1	0	0	0	11171	449	16	3	304	3	OR51E2	11	4703280	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08		4703280	130303236	20	51445											
OR4S1	256148	broad.mit.edu	37	chr11	48328178	48328178	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactacacagccatcatggAttgccggaagtgtggcctgc	9	8	12	12	1	1	0	1	0	0	0	1	2	1	2	3	3	4	1	3	3	2	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:48328178A>G	ENST00000319988.1	+	1	404	c.404A>G	c.(403-405)gAt>gGt	p.D135G		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						GCCATCATGGATTGCCGGAAG	0.582													G	48328178	A	G	48328178	3	3	632	1	0	0	0	0	1	0	0	0	11158	333	12	3	406	3	OR4S1	11	48328178	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08	43624898	48328178	86678338	21	51446											
EHD1	10938	broad.mit.edu	37	chr11	64622120	64622120	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtcgtcgatgccctcgccGgccccctcgccgtagccgtg	3	7	12	19	8	0	0	0	0	0	0	4	1	0	0	6	1	2	1	6	1	1	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:64622120G>A	ENST00000320631.3	-	5	1544	c.1290C>T	c.(1288-1290)gcC>gcT	p.A430A	EHD1_ENST00000488711.1_5'UTR|EHD1_ENST00000359393.2_Silent_p.A430A	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	430					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						TGCCCTCGCCGGCCCCCTCGC	0.662													A	64622120	G	A	64622120	2	1	632	1	0	0	0	0	0	0	0	1	5016	1103	39	1		1	EHD1	11	64622120	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	16293942	64622120	70384396	22	51447											
DCUN1D5	84259	broad.mit.edu	37	chr11	102937266	102937266	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgagcgcaaaaagtcaaaTttgttttgtaacttttctgt	11	17	8	5	1	2	1	1	1	1	0	2	1	2	1	0	0	2	3	0	0	4	6			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr11:102937266T>C	ENST00000260247.5	-	5	714	c.372A>G	c.(370-372)aaA>aaG	p.K124K	DCUN1D5_ENST00000531543.1_Silent_p.K39K	NM_032299.3	NP_115675.1	Q9BTE7	DCNL5_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 5	124	DCUN1.									NS(1)|central_nervous_system(1)|endometrium(2)	4		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.00032)|Epithelial(105;0.0689)|all cancers(92;0.186)		AAAAGTCAAATTTGTTTTGTA	0.303													C	102937266	T	C	102937266	2	2	632	1	0	0	0	0	0	0	0	1	4351	1490	52	3		3	DCUN1D5	11	102937266	Silent	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	38315146	102937266	32069250	23	51448											
MDM2	4193	broad.mit.edu	37	chr12	69222647	69222647	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaaagcctggctctgtgtgTaataagggagatatgttgtg	10	13	14	4	0	1	2	0	1	1	1	1	3	1	2	1	2	1	3	1	2	4	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:69222647T>A	ENST00000462284.1	+	8	922	c.620T>A	c.(619-621)gTa>gAa	p.V207E	MDM2_ENST00000393412.3_Intron|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000258148.7_Missense_Mutation_p.V152E|MDM2_ENST00000350057.5_Missense_Mutation_p.V176E|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000517852.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000258149.5_Missense_Mutation_p.V146E|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	201	Interaction with MTBP (By similarity).|Interaction with PYHIN1.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			GCTCTGTGTGTAATAAGGGAG	0.403			A		"sarcoma, glioma, colorectal, other"								A	69222647	T	A	69222647	3	1	632	1	0	0	0	0	1	0	0	0	9488	1638	57	5	650	5	MDM2	12	69222647	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08		69222647	64629248	24	51449											
TMEM132D	121256	broad.mit.edu	37	chr12	130184803	130184803	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacctctcgggtctctcGgaaagcaaagaccctcaggc	9	6	10	16	3	3	1	1	0	2	1	6	2	3	2	3	3	1	2	3	3	2	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr12:130184803G>A	ENST00000422113.2	-	2	846	c.520C>T	c.(520-522)Cga>Tga	p.R174*		NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	174						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CGGGTCTCTCGGAAAGCAAAG	0.682													A	130184803	G	A	130184803	4	1	632	1	0	0	0	0	0	1	0	0	16147	1124	39	1	2811	1	TMEM132D	12	130184803	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	60962156	130184803	3667092	25	51450											
C1QTNF9B	387911	broad.mit.edu	37	chr13	24465957	24465957	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcccttgggaccaggctttCcaatagggcccatggggccc	6	8	12	15	0	0	0	0	0	0	0	2	1	2	1	5	5	0	1	5	5	2	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:24465957C>A	ENST00000382137.3	-	3	541	c.473G>T	c.(472-474)gGa>gTa	p.G158V	C1QTNF9B-AS1_ENST00000417034.1_RNA|C1QTNF9B_ENST00000382145.1_Intron|C1QTNF9B_ENST00000382140.2_Missense_Mutation_p.G158V|C1QTNF9B-AS1_ENST00000435039.2_RNA|C1QTNF9B-AS1_ENST00000382133.4_RNA|C1QTNF9B_ENST00000556521.1_Intron|C1QTNF9B_ENST00000382057.3_Intron	NM_001007537.1	NP_001007538.1	B2RNN3	C1T9B_HUMAN	C1q and tumor necrosis factor related protein 9B	158	Collagen-like 3.					collagen				breast(1)|central_nervous_system(1)|large_intestine(3)|lung(1)	6						ACCAGGCTTTCCAATAGGGCC	0.627													A	24465957	C	A	24465957	3	1	632	1	0	0	0	0	1	0	0	0	1991	855	30	4	531	4	C1QTNF9B	13	24465957	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		24465957	90703921	26	51451											
ELF1	1997	broad.mit.edu	37	chr13	41517272	41517272	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaaaactcccaaagataaaTtgtgtttcctgaaacaaaaa	20	10	4	7	0	0	2	0	1	0	1	2	2	2	2	2	0	2	1	2	0	9	4			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr13:41517272T>C	ENST00000239882.3	-	7	936	c.622A>G	c.(622-624)Att>Gtt	p.I208V	ELF1_ENST00000498824.1_5'UTR|ELF1_ENST00000442101.1_Missense_Mutation_p.I184V	NM_172373.3	NP_758961.1	P32519	ELF1_HUMAN	E74-like factor 1 (ets domain transcription factor)	208					positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37		Lung NSC(96;8.3e-05)|Prostate(109;0.0233)|Breast(139;0.0296)|Lung SC(185;0.0367)		all cancers(112;1.87e-08)|Epithelial(112;8.45e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000202)|GBM - Glioblastoma multiforme(144;0.00266)|BRCA - Breast invasive adenocarcinoma(63;0.072)		CAAAGATAAATTGTGTTTCCT	0.343													C	41517272	T	C	41517272	3	2	632	1	0	0	0	0	1	0	0	0	5094	1493	52	3	1249	3	ELF1	13	41517272	Missense_Mutation	SNP	T	TCGA-KT-A7W1-01A-11D-A34A-08	17051315	41517272	73652606	27	51452											
RBM25	58517	broad.mit.edu	37	chr14	73577739	73577739	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtttcctctgccagtggCaatgcaacacctaacactcc	9	11	6	15	0	2	0	0	0	2	0	4	0	4	0	4	1	4	3	4	1	3	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr14:73577739C>T	ENST00000261973.7	+	15	2178	c.1893C>T	c.(1891-1893)ggC>ggT	p.G631G	RBM25_ENST00000527432.1_Silent_p.G631G|RBM25_ENST00000532483.1_3'UTR	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	631	Necessary for nuclear speckle localization.				apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		CTGCCAGTGGCAATGCAACAC	0.498													T	73577739	C	T	73577739	2	4	632	1	0	0	0	0	0	0	0	1	13213	697	25	2		2	RBM25	14	73577739	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		73577739	33771801	28	51453											
BAIAP3	8938	broad.mit.edu	37	chr16	1396250	1396250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gggcctggcatggccagaggGggccacggggcccgaggggg	5	2	23	11	2	0	1	0	0	0	1	0	2	0	1	4	9	0	1	4	9	0	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:1396250G>A	ENST00000324385.5	+	25	2644	c.2486G>A	c.(2485-2487)gGg>gAg	p.G829E	BAIAP3_ENST00000397488.2_Missense_Mutation_p.G811E|BAIAP3_ENST00000397489.1_Missense_Mutation_p.G811E|BAIAP3_ENST00000568887.1_Missense_Mutation_p.G766E|BAIAP3_ENST00000562208.1_Missense_Mutation_p.G771E|BAIAP3_ENST00000426824.3_Missense_Mutation_p.G794E|BAIAP3_ENST00000421665.2_Missense_Mutation_p.G758E|BAIAP3_ENST00000564213.1_3'UTR	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	829					G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				TGGCCAGAGGGGGCCACGGGG	0.692													A	1396250	G	A	1396250	3	1	632	1	0	0	0	0	1	0	0	0	1309	1232	43	2	2584	2	BAIAP3	16	1396250	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		1396250	88958503	29	51454											
GRIN2A	2903	broad.mit.edu	37	chr16	9857178	9857178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctggaacagtacgatgccGttgacctcaaggacgaccga	11	6	11	13	4	1	1	1	1	0	0	1	6	1	3	4	2	3	2	4	2	3	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:9857178G>A	ENST00000396573.2	-	14	4532	c.4223C>T	c.(4222-4224)aCg>aTg	p.T1408M	GRIN2A_ENST00000562109.1_3'UTR|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T1408M|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T1408M|GRIN2A_ENST00000535259.1_3'UTR|GRIN2A_ENST00000404927.2_3'UTR	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1408					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GTACGATGCCGTTGACCTCAA	0.493													A	9857178	G	A	9857178	3	1	632	1	0	0	0	0	1	0	0	0	6834	1145	40	1	175	1	GRIN2A	16	9857178	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	8460928	9857178	80497575	30	51455											
GPR139	124274	broad.mit.edu	37	chr16	20043248	20043248	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgccatggtgcggaaccGcttgctgatgaagcagtaga	9	8	15	9	2	0	3	0	2	0	1	0	4	0	4	2	3	5	5	2	3	3	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:20043248G>A	ENST00000570682.1	-	2	1171	c.871C>T	c.(871-873)Cgg>Tgg	p.R291W		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	291						integral to membrane|plasma membrane		p.R291W(1)		autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GTGCGGAACCGCTTGCTGATG	0.502													A	20043248	G	A	20043248	3	1	632	1	0	0	0	0	1	0	0	0	6702	1086	38	1	194	1	GPR139	16	20043248	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	10186070	20043248	70311505	31	51456											
DDX19A	55308	broad.mit.edu	37	chr16	70404224	70404224	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggtggagcagagggctgcGgtgattgagcgcttccgaga	8	8	18	7	3	0	4	0	2	0	2	1	6	1	5	1	4	3	3	1	4	0	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr16:70404224G>A	ENST00000302243.7	+	10	1282	c.1119G>A	c.(1117-1119)gcG>gcA	p.A373A	DDX19A_ENST00000443119.2_Silent_p.A283A|DDX19A_ENST00000417604.2_Silent_p.A342A	NM_018332.3	NP_060802.1			DEAD (Asp-Glu-Ala-Asp) box polypeptide 19A											breast(1)|endometrium(1)|large_intestine(5)|lung(3)|urinary_tract(1)	11		Ovarian(137;0.221)				AGAGGGCTGCGGTGATTGAGC	0.597													A	70404224	G	A	70404224	2	1	632	1	0	0	0	0	0	0	0	1	4380	1103	39	1		1	DDX19A	16	70404224	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	50360976	70404224	19950529	32	51457											
RNF167	26001	broad.mit.edu	37	chr17	4848111	4848111	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggggacgaagaccaaGaggaagaaactcaagggcaa	16	3	14	8	1	1	3	1	0	0	3	2	6	2	5	2	4	1	1	2	4	6	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:4848111G>T	ENST00000262482.6	+	10	1509	c.853G>T	c.(853-855)Gag>Tag	p.E285*	RNF167_ENST00000576229.1_Nonsense_Mutation_p.E250*|RNF167_ENST00000575111.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000571816.1_Nonsense_Mutation_p.E285*|RNF167_ENST00000572430.1_Nonsense_Mutation_p.E285*	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	285					negative regulation of cell cycle|protein polyubiquitination	cytoplasm|endomembrane system|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(1)	4						CGAAGACCAAGAGGAAGAAAC	0.602													T	4848111	G	T	4848111	4	4	632	1	0	0	0	0	0	1	0	0	13549	943	33	4	887	4	RNF167	17	4848111	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		4848111	76347099	33	51458											
SLFN12L	100506736	broad.mit.edu	37	chr17	33802177	33802177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagatctttgtcatgacaCacacttttttagtgtaacca	13	14	6	8	0	2	3	1	1	1	2	2	3	2	3	1	0	1	1	1	0	3	5			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:33802177C>T	ENST00000260908.7	-	4	1649	c.1532G>A	c.(1531-1533)tGt>tAt	p.C511Y	SLFN12L_ENST00000361112.4_Missense_Mutation_p.C540Y|SLFN12L_ENST00000449046.1_Missense_Mutation_p.C542Y	NM_001195790.1	NP_001182719.1	Q6IEE8	SN12L_HUMAN	schlafen family member 12-like	543						integral to membrane	ATP binding			breast(1)|endometrium(4)|kidney(5)|large_intestine(2)|lung(3)|ovary(1)	16						TGTCATGACACACACTTTTTT	0.393													T	33802177	C	T	33802177	3	4	632	1	0	0	0	0	1	0	0	0	14829	478	17	2	238	2	SLFN12L	17	33802177	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	28954066	33802177	47393033	34	51459											
KRT19	3880	broad.mit.edu	37	chr17	39680190	39680190	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgatcagcgcctggatatgCgccagctgggctccaaagcg	8	7	13	13	3	1	1	1	1	0	0	2	2	2	2	3	2	4	2	3	2	2	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr17:39680190C>T	ENST00000361566.3	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_002276.4	NP_002267.2			keratin 19											breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(2)	12		Breast(137;0.00038)				CCTGGATATGCGCCAGCTGGG	0.592													T	39680190	C	T	39680190	2	4	632	1	0	0	0	0	0	0	0	1	8514	755	27	1		1	KRT19	17	39680190	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	5878013	39680190	41515020	35	51460											
TCEB3B	51224	broad.mit.edu	37	chr18	44561077	44561077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttgcttcccgggcgcagCgggctcagggccctcgggca	3	6	18	14	4	1	0	1	0	0	0	3	0	2	0	2	5	2	5	2	5	0	2	rs149522210		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr18:44561077C>T	ENST00000332567.4	-	1	911	c.559G>A	c.(559-561)Gct>Act	p.A187T	KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron|KATNAL2_ENST00000592005.1_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	187					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						CCGGGCGCAGCGGGCTCAGGG	0.692													T	44561077	C	T	44561077	3	4	632	1	0	0	0	0	1	0	0	0	15782	768	27	1	1706	1	TCEB3B	18	44561077	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08		44561077	33516171	36	51461											
ZNF700	90592	broad.mit.edu	37	chr19	12059661	12059661	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catgaaagaactcacactggGgagaagccctatgaatgtag	15	7	11	8	0	1	4	1	2	0	2	1	5	1	4	1	2	2	1	1	2	6	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:12059661G>A	ENST00000482090.1	+	3	1186	c.768G>A	c.(766-768)ggG>ggA	p.G256G	ZNF763_ENST00000591944.1_Intron|ZNF700_ENST00000254321.5_Silent_p.G274G|CTD-2006C1.12_ENST00000586394.1_RNA|ZNF763_ENST00000538752.1_Intron|ZNF763_ENST00000590798.1_Intron			Q9H0M5	ZN700_HUMAN	zinc finger protein 700	274					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding		ZNF700/MAST1_ENST00000251472(2)	breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	33						CTCACACTGGGGAGAAGCCCT	0.368													A	12059661	G	A	12059661	2	1	632	1	0	0	0	0	0	0	0	1	18205	1219	43	2		2	ZNF700	19	12059661	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		12059661	47069322	37	51462											
MAST3	23031	broad.mit.edu	37	chr19	18245714	18245714	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtgggccatgggcgtcGtcctctatgagtttctggtg	4	13	15	9	2	2	1	0	1	2	0	4	1	3	1	2	4	0	1	2	4	1	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18245714G>A	ENST00000262811.6	+	16	1705	c.1705G>A	c.(1705-1707)Gtc>Atc	p.V569I		NM_015016.1	NP_055831.1	O60307	MAST3_HUMAN	microtubule associated serine/threonine kinase 3		Protein kinase.						ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(6)|ovary(4)|pancreas(1)|stomach(1)	31						CATGGGCGTCGTCCTCTATGA	0.632													A	18245714	G	A	18245714	3	1	632	1	0	0	0	0	1	0	0	0	9401	1145	40	1	1767	1	MAST3	19	18245714	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	6186053	18245714	40883269	38	51463											
UPF1	5976	broad.mit.edu	37	chr19	18958595	18958596	+	Frame_Shift_Ins	INS	-	-	A																															cctgcgtggtttactgtaatINSaccagcaagaagtggttctg																										TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:18958595_18958596insA	ENST00000262803.5	+	3	686_687	c.414_415insA	c.(415-417)accfs	p.T139fs	UPF1_ENST00000599848.1_Frame_Shift_Ins_p.T139fs	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	139	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TTTACTGTAATACCAGCAAGAA	0.436											OREG0025373	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	18958596	-	A	18958595	7	5	632	1	0	1	1	0	0	0	0	0	17105	1403	49	0	424	0	UPF1	19	18958595	Frame_Shift_Ins	INS	-	TCGA-KT-A7W1-01A-11D-A34A-08	712881	18958595	40170388	39	51464											
PSG9	5678	broad.mit.edu	37	chr19	43773549	43773549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagccccttccaggtgatgCgctgtgtgcaggaaggggct	6	8	17	10	1	0	1	0	1	0	0	1	3	1	3	3	5	3	3	3	5	1	1	rs142118461		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:43773549C>T	ENST00000244293.7	-	1	101	c.35G>A	c.(34-36)cGc>cAc	p.R12H	PSG9_ENST00000291752.5_Missense_Mutation_p.R12H|PSG9_ENST00000593948.1_Missense_Mutation_p.R12H|PSG9_ENST00000443718.3_Missense_Mutation_p.R12H|PSG9_ENST00000596730.1_Missense_Mutation_p.R12H|PSG9_ENST00000270077.3_Missense_Mutation_p.R12H|PSG9_ENST00000418820.2_Missense_Mutation_p.R12H			Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	12					female pregnancy	extracellular region		p.R12H(1)		central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				CCAGGTGATGCGCTGTGTGCA	0.622													T	43773549	C	T	43773549	3	4	632	1	0	0	0	0	1	0	0	0	12747	768	27	1	1269	1	PSG9	19	43773549	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	24814954	43773549	15355434	40	51465											
ZNF283	284349	broad.mit.edu	37	chr19	44352638	44352638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggtgagaagctttatcaaCgtaaggaattcgggaagacc	13	9	12	7	2	1	2	1	1	0	2	2	5	1	4	1	3	2	2	1	3	6	4	rs111879759		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:44352638C>T	ENST00000324461.7	+	7	2182	c.1885C>T	c.(1885-1887)Cgt>Tgt	p.R629C	ZNF283_ENST00000588797.1_Missense_Mutation_p.R490C	NM_181845.1	NP_862828.1	Q8N7M2	ZN283_HUMAN	zinc finger protein 283	629			R -> H (in dbSNP:rs1061768).		regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(4)	8		Prostate(69;0.0352)				GCTTTATCAACGTAAGGAATT	0.393													T	44352638	C	T	44352638	3	4	632	1	0	0	0	0	1	0	0	0	17921	536	19	1	1899	1	ZNF283	19	44352638	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	579089	44352638	14776345	41	51466											
ERCC2	2068	broad.mit.edu	37	chr19	45858101	45858101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggaggttcccatagttccGgatcacagctgcaaggggtc	9	8	13	11	1	1	0	1	0	0	0	4	2	3	2	2	5	2	4	2	5	2	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:45858101G>A	ENST00000391945.4	-	17	1629	c.1552C>T	c.(1552-1554)Cgg>Tgg	p.R518W	ERCC2_ENST00000391944.3_Missense_Mutation_p.R440W	NM_000400.3	NP_000391.1	P18074	ERCC2_HUMAN	excision repair cross-complementing rodent repair deficiency, complementation group 2	518	Mediates interaction with MMS19.				cell cycle checkpoint|chromosome segregation|hair cell differentiation|induction of apoptosis|interspecies interaction between organisms|mRNA capping|nucleotide-excision repair, DNA damage removal|nucleotide-excision repair, DNA incision|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|protein phosphorylation|response to oxidative stress|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|UV protection|viral reproduction	cytoplasm|holo TFIIH complex|MMXD complex	5'-3' DNA helicase activity|ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding|protein C-terminus binding|protein N-terminus binding			large_intestine(4)|lung(2)|ovary(1)|pancreas(1)|stomach(1)	9		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0226)		CCATAGTTCCGGATCACAGCT	0.587			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				A	45858101	G	A	45858101	3	1	632	1	0	0	0	0	1	0	0	0	5254	1115	39	1	758	1	ERCC2	19	45858101	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	1505463	45858101	13270882	42	51467											
TMEM143	55260	broad.mit.edu	37	chr19	48863392	48863392	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtccacgtgggccgagaaCgcctccaaagccgccttctc	9	6	10	16	4	1	1	0	0	1	1	4	2	3	1	6	1	2	0	6	1	3	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr19:48863392C>T	ENST00000293261.3	-	3	622	c.306G>A	c.(304-306)gcG>gcA	p.A102A	TMEM143_ENST00000541566.1_Intron|TMEM143_ENST00000435956.3_Intron|TMEM143_ENST00000377431.2_Intron|TMEM143_ENST00000436660.2_Silent_p.A102A	NM_018273.2	NP_060743.2	Q96AN5	TM143_HUMAN	transmembrane protein 143	102						integral to membrane|mitochondrion				endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	14		all_epithelial(76;9.64e-05)|all_lung(116;0.000147)|Lung NSC(112;0.000251)|Prostate(7;0.0187)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000149)|all cancers(93;0.000198)|Epithelial(262;0.0151)|GBM - Glioblastoma multiforme(486;0.0157)		GGGCCGAGAACGCCTCCAAAG	0.592													T	48863392	C	T	48863392	2	4	632	1	0	0	0	0	0	0	0	1	16157	523	19	1		1	TMEM143	19	48863392	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	3005291	48863392	10265591	43	51468											
CACNG2	10369	broad.mit.edu	37	chr22	36960617	36960617	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatgcccacgggggaggcGtccctggagtgtgagggctc	5	8	18	10	2	0	2	0	2	0	0	2	4	1	4	2	5	1	1	2	5	0	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:36960617G>A	ENST00000300105.6	-	4	1734	c.753C>T	c.(751-753)gaC>gaT	p.D251D		NM_006078.3	NP_006069.1	Q9Y698	CCG2_HUMAN	calcium channel, voltage-dependent, gamma subunit 2	251					membrane depolarization|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	protein binding|voltage-gated calcium channel activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	18						CGGGGGAGGCGTCCCTGGAGT	0.687													A	36960617	G	A	36960617	2	1	632	1	0	0	0	0	0	0	0	1	2583	1136	40	1		1	CACNG2	22	36960617	Silent	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		36960617	14343949	44	51469											
L3MBTL2	83746	broad.mit.edu	37	chr22	41621067	41621067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacatctgcgtggcaactGtctgtaaggtgagccagggg	9	8	15	9	1	2	1	0	1	2	0	2	1	2	1	1	4	4	3	1	4	3	1			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chr22:41621067G>A	ENST00000216237.5	+	11	1506	c.1348G>A	c.(1348-1350)Gtc>Atc	p.V450I		NM_031488.4	NP_113676.2	Q969R5	LMBL2_HUMAN	l(3)mbt-like 2 (Drosophila)	450					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	methylated histone residue binding|transcription corepressor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CGTGGCAACTGTCTGTAAGGT	0.602													A	41621067	G	A	41621067	3	1	632	1	0	0	0	0	1	0	0	0	8651	1377	48	2	1390	2	L3MBTL2	22	41621067	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	4660450	41621067	9683499	45	51470											
DMD	1756	broad.mit.edu	37	chrX	32834682	32834682	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataattacgagttgattgtcGgacccagctcaggagaatct	12	11	10	8	2	2	2	1	1	1	1	3	5	2	3	1	2	2	2	1	2	3	4	rs128626235		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:32834682G>A	ENST00000357033.4	-	6	639	c.433C>T	c.(433-435)Cga>Tga	p.R145*	DMD_ENST00000288447.4_Nonsense_Mutation_p.R137*|DMD_ENST00000378677.2_Nonsense_Mutation_p.R141*	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	145	Actin-binding.|CH 2.				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				GTTGATTGTCGGACCCAGCTC	0.393													A	32834682	G	A	32834682	4	1	632	1	0	0	0	0	0	1	0	0	4619	1124	39	1	11163	1	DMD	23	32834682	Nonsense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08		32834682	122435878	46	51471											
SLC9A7	84679	broad.mit.edu	37	chrX	46466458	46466458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctggtctcccattcccaGgtctcgctccagcacttcct	4	13	6	18	1	3	0	0	0	3	0	8	0	6	0	4	2	1	2	4	2	0	3			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:46466458G>T	ENST00000328306.4	-	17	2132	c.2107C>A	c.(2107-2109)Ctg>Atg	p.L703M	SLC9A7_ENST00000464933.1_5'UTR	NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	703					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCCATTCCCAGGTCTCGCTCC	0.612													T	46466458	G	T	46466458	3	4	632	1	0	0	0	0	1	0	0	0	14813	991	35	4	74	4	SLC9A7	23	46466458	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	13631776	46466458	108804102	47	51472											
GLUD2	2747	broad.mit.edu	37	chrX	120181769	120181769	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggcttcttcgatcgcggCgccagcatcgtggaggacaa	8	7	15	11	5	1	0	0	0	1	0	4	4	1	2	1	4	1	2	1	4	1	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:120181769C>T	ENST00000328078.1	+	1	308	c.231C>T	c.(229-231)ggC>ggT	p.G77G		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	77					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding	p.G77G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	TCGATCGCGGCGCCAGCATCG	0.642													T	120181769	C	T	120181769	2	4	632	1	0	0	0	0	0	0	0	1	6533	755	27	1		1	GLUD2	23	120181769	Silent	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	73715311	120181769	35088791	48	51473											
UTP14A	10813	broad.mit.edu	37	chrX	129060251	129060251	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgagggtcctccaagaaAagataagaatttgccaaatg	15	8	9	9	0	0	4	0	1	0	3	2	4	2	4	4	1	1	0	4	1	6	2			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:129060251A>T	ENST00000394422.3	+	14	2007	c.1979A>T	c.(1978-1980)aAa>aTa	p.K660I	RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.K608I|UTP14A_ENST00000371051.5_Missense_Mutation_p.K606I|UTP14A_ENST00000371042.3_Missense_Mutation_p.K492I	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	660					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						CCTCCAAGAAAAGATAAGAAT	0.453											OREG0019920	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	129060251	A	T	129060251	3	4	632	1	0	0	0	0	1	0	0	0	17197	14	1	5	2033	5	UTP14A	23	129060251	Missense_Mutation	SNP	A	TCGA-KT-A7W1-01A-11D-A34A-08	8878482	129060251	26210309	49	51474											
ARHGEF6	9459	broad.mit.edu	37	chrX	135825938	135825938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgatgacttccattttccGtcatctcctagagaaacaaa	13	12	5	11	1	2	3	1	2	1	1	5	4	4	3	3	0	1	0	3	0	3	4	rs144171880	byFrequency	TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:135825938G>A	ENST00000250617.6	-	5	1672	c.467C>T	c.(466-468)aCg>aTg	p.T156M	ARHGEF6_ENST00000370622.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000370620.1_Missense_Mutation_p.T2M|ARHGEF6_ENST00000535227.1_Missense_Mutation_p.T2M	NM_004840.2	NP_004831.1	Q15052	ARHG6_HUMAN	Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6	156					apoptosis|cell junction assembly|induction of apoptosis by extracellular signals|JNK cascade|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(1)|lung(14)|prostate(1)	38	Acute lymphoblastic leukemia(192;0.000127)					TCCATTTTCCGTCATCTCCTA	0.393													A	135825938	G	A	135825938	3	1	632	1	0	0	0	0	1	0	0	0	913	1145	40	1	1935	1	ARHGEF6	23	135825938	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	6765687	135825938	19444622	50	51475											
PDZD4	57595	broad.mit.edu	37	chrX	153069356	153069356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccaggcctcgcgtcggggCcagctgcacgcagctgtggt	4	7	15	15	4	0	0	0	0	0	0	3	0	1	0	3	4	3	4	3	4	0	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153069356C>T	ENST00000164640.4	-	8	1953	c.1762G>A	c.(1762-1764)Gcc>Acc	p.A588T	PDZD4_ENST00000544474.1_Missense_Mutation_p.A479T|PDZD4_ENST00000393758.2_Missense_Mutation_p.A513T	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	588						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CGCGTCGGGGCCAGCTGCACG	0.756													T	153069356	C	T	153069356	3	4	632	1	0	0	0	0	1	0	0	0	11779	739	26	2	551	2	PDZD4	23	153069356	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	17243418	153069356	2201204	51	51476											
ARHGAP4	393	broad.mit.edu	37	chrX	153173283	153173283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctttgttcctgcccaggCggctgctgggcggggccttt	2	11	15	13	2	0	0	0	0	0	0	1	0	1	0	4	5	3	3	4	5	0	3	rs34514067		TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153173283C>T	ENST00000370028.3	-	23	2918	c.2861G>A	c.(2860-2862)cGc>cAc	p.R954H	ARHGAP4_ENST00000350060.5_Missense_Mutation_p.R914H|ARHGAP4_ENST00000537206.1_Missense_Mutation_p.R891H|ARHGAP4_ENST00000370016.1_Missense_Mutation_p.R893H|ARHGAP4_ENST00000393721.1_Missense_Mutation_p.R736H	NM_001164741.1	NP_001158213.1	P98171	RHG04_HUMAN	Rho GTPase activating protein 4	914					apoptosis|cytoskeleton organization|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|Rho protein signal transduction	cytosol|focal adhesion|nucleus	Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	14	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCCCAGGCGGCTGCTGGG	0.687													T	153173283	C	T	153173283	3	4	632	1	0	0	0	0	1	0	0	0	888	768	27	1	103	1	ARHGAP4	23	153173283	Missense_Mutation	SNP	C	TCGA-KT-A7W1-01A-11D-A34A-08	103927	153173283	2097277	52	51477											
HCFC1	3054	broad.mit.edu	37	chrX	153217982	153217982	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccatgacggcctgctgcGcggcctggagcaccgcctgg	5	5	14	17	4	0	1	0	1	0	0	0	2	0	2	5	4	3	2	5	4	0	0			TCGA-KT-A7W1-01A-11D-A34A-08	TCGA-KT-A7W1-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a253047-19f9-4c91-8ed2-685834f35809	df20f47a-d634-43f1-a0ce-cb055ecb4537	g.chrX:153217982G>A	ENST00000310441.7	-	19	5891	c.4925C>T	c.(4924-4926)gCg>gTg	p.A1642V	HCFC1_ENST00000369984.4_Missense_Mutation_p.A1686V|HCFC1_ENST00000354233.3_Missense_Mutation_p.A1573V	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	1642					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGCCTGCTGCGCGGCCTGGAG	0.716													A	153217982	G	A	153217982	3	1	632	1	0	0	0	0	1	0	0	0	7046	1087	38	1	1214	1	HCFC1	23	153217982	Missense_Mutation	SNP	G	TCGA-KT-A7W1-01A-11D-A34A-08	44699	153217982	2052578	53	51478											
NEB	4703	broad.mit.edu	37	chr2	152409936	152409936	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacgtagatcataagcatgCttggcatggaggatttcagg	11	11	12	7	1	3	1	3	0	0	1	3	3	3	3	0	4	2	4	0	4	2	4			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:152409936C>T	ENST00000397345.3	-	127	19909	c.19707G>A	c.(19705-19707)aaG>aaA	p.K6569K	NEB_ENST00000604864.1_Silent_p.K6569K|NEB_ENST00000409198.1_Silent_p.K4868K|NEB_ENST00000603639.1_Silent_p.K6569K|NEB_ENST00000427231.2_Silent_p.K6569K|NEB_ENST00000172853.10_Silent_p.K4868K	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	4868	Interaction with SVIL.				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CATAAGCATGCTTGGCATGGA	0.398													T	152409936	C	T	152409936	2	4	633	1	0	0	0	0	0	0	0	1	10378	796	28	2		2	NEB	2	152409936	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		152409936	90789437	1	51479											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	633	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	56703176	209113112	34086261	2	51480											
TREX1	11277	broad.mit.edu	37	chr3	48508260	48508261	+	Frame_Shift_Del	DEL	TG	TG	-																															tgtggtagacaagctctcccTgtgtgtggctccggggaagg																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:48508260_48508261delTG	ENST00000296443.9	+	3	1093_1094	c.206_207delTG	c.(205-207)ctgfs	p.L69fs	TREX1_ENST00000492235.1_3'UTR|TREX1_ENST00000456089.1_Intron|TREX1_ENST00000436480.2_Frame_Shift_Del_p.L69fs|TREX1_ENST00000444177.1_Frame_Shift_Del_p.L59fs|TREX1_ENST00000422277.2_Frame_Shift_Del_p.L124fs|TREX1_ENST00000433541.1_5'UTR			Q9NSU2	TREX1_HUMAN	three prime repair exonuclease 1	124					cell death|DNA recombination|DNA replication|mismatch repair	nuclear envelope	3'-5'-exodeoxyribonuclease activity|exodeoxyribonuclease III activity|metal ion binding|MutLalpha complex binding|MutSalpha complex binding|protein homodimerization activity|single-stranded DNA binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|skin(3)	9				BRCA - Breast invasive adenocarcinoma(193;0.000286)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		AAGCTCTCCCTGTGTGTGGCTC	0.634													-	48508261	TG	-	48508260	7	5	633	1	0	1	0	1	0	0	0	0	16577	1580	55	0	373	0	TREX1	3	48508260	Frame_Shift_Del	DEL	TG	TCGA-P5-A5ET-01A-11D-A27K-08		48508260	149514170	3	51481											
ZBTB20	26137	broad.mit.edu	37	chr3	114058232	114058234	+	In_Frame_Del	DEL	AGA	AGA	-																															gataaggtaatcctttaaggAgaaggagcgccaacagatgc																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:114058232_114058234delAGA	ENST00000462705.1	-	12	2446_2448	c.1625_1627delTCT	c.(1624-1629)ttctcc>tcc	p.F542del	ZBTB20_ENST00000474710.1_In_Frame_Del_p.F615del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.F542del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.F542del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.F542del|ZBTB20_ENST00000464560.1_In_Frame_Del_p.F542del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	615					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		TCCTTTAAGGAGAAGGAGCGCCA	0.502													-	114058234	AGA	-	114058232	7	5	633	1	0	1	0	1	0	0	0	0	17630	304	11	0	383	0	ZBTB20	3	114058232	In_Frame_Del	DEL	AGA	TCGA-P5-A5ET-01A-11D-A27K-08	65549972	114058232	83964198	4	51482											
MBD4	8930	broad.mit.edu	37	chr3	129155397	129155399	+	In_Frame_Del	DEL	CTT	CTT	-																															atgttctttcctttccacaaCttctacttttgttccgattt																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:129155397_129155399delCTT	ENST00000429544.2	-	3	1283_1285	c.1088_1090delAAG	c.(1087-1092)gaagtt>gtt	p.E363del	MBD4_ENST00000507208.1_In_Frame_Del_p.E363del|MBD4_ENST00000503197.1_In_Frame_Del_p.E363del|MBD4_ENST00000393278.2_Intron|MBD4_ENST00000249910.1_In_Frame_Del_p.E363del|MBD4_ENST00000509587.1_Intron	NM_001276270.1	NP_001263199.1	O95243	MBD4_HUMAN	methyl-CpG binding domain protein 4	363					depyrimidination	nucleoplasm	DNA N-glycosylase activity|endodeoxyribonuclease activity|protein binding|satellite DNA binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)	22						CTTTCCACAACTTCTACTTTTGT	0.384								Base excision repair (BER), DNA glycosylases					-	129155399	CTT	-	129155397	7	5	633	1	0	1	0	1	0	0	0	0	9421	565	20	0	676	0	MBD4	3	129155397	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08	15097165	129155397	68867033	5	51483											
EIF4G1	1981	broad.mit.edu	37	chr3	184042726	184042726	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgggacatagcccggcggCgctctttagggaatatcaag	9	8	13	11	4	2	0	1	0	1	0	3	2	2	2	1	4	1	1	1	4	5	4			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr3:184042726C>T	ENST00000342981.4	+	17	3097	c.2683C>T	c.(2683-2685)Cgc>Tgc	p.R895C	EIF4G1_ENST00000414031.1_Missense_Mutation_p.R854C|EIF4G1_ENST00000352767.3_Missense_Mutation_p.R901C|EIF4G1_ENST00000382330.3_Missense_Mutation_p.R901C|EIF2B5_ENST00000444495.1_Intron|EIF4G1_ENST00000434061.2_Missense_Mutation_p.R699C|EIF4G1_ENST00000441154.1_Missense_Mutation_p.R731C|EIF4G1_ENST00000392537.2_Missense_Mutation_p.R807C|EIF4G1_ENST00000411531.1_Missense_Mutation_p.R855C|EIF4G1_ENST00000350481.5_Missense_Mutation_p.R730C|EIF4G1_ENST00000424196.1_Missense_Mutation_p.R901C|EIF4G1_ENST00000319274.6_Missense_Mutation_p.R894C|EIF4G1_ENST00000346169.2_Missense_Mutation_p.R894C|EIF4G1_ENST00000435046.2_Missense_Mutation_p.R698C|EIF4G1_ENST00000427845.1_Missense_Mutation_p.R808C	NM_182917.4	NP_886553	Q04637	IF4G1_HUMAN	eukaryotic translation initiation factor 4 gamma, 1	894	eIF3/EIF4A-binding.				insulin receptor signaling pathway|interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	protein binding|translation initiation factor activity			central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(5)|large_intestine(14)|lung(41)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	75	all_cancers(143;1.06e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGCCCGGCGGCGCTCTTTAGG	0.478													T	184042726	C	T	184042726	3	4	633	1	0	0	0	0	1	0	0	0	5077	768	27	1	2742	1	EIF4G1	3	184042726	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	54887329	184042726	13979704	6	51484											
IL6ST	3572	broad.mit.edu	37	chr5	55259245	55259245	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttagtattataacactctTaatacttgggttggtccatg	10	18	7	6	0	1	0	0	0	1	0	2	0	2	0	1	2	2	2	1	2	6	9			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr5:55259245T>G	ENST00000381298.2	-	7	1060	c.748A>C	c.(748-750)Aag>Cag	p.K250Q	IL6ST_ENST00000381287.4_Missense_Mutation_p.K250Q|IL6ST_ENST00000522633.2_Missense_Mutation_p.K250Q|IL6ST_ENST00000336909.5_Missense_Mutation_p.K250Q|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000381293.2_Missense_Mutation_p.K84Q|IL6ST_ENST00000381294.3_Missense_Mutation_p.K250Q|IL6ST_ENST00000536319.1_Missense_Mutation_p.K250Q	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer (gp130, oncostatin M receptor)	250	Fibronectin type-III 2.				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				ATAACACTCTTAATACTTGGG	0.343			O		hepatocellular ca								G	55259245	T	G	55259245	3	3	633	1	0	0	0	0	1	0	0	0	7761	1763	61	5	2052	5	IL6ST	5	55259245	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		55259245	125656015	7	51485											
DST	667	broad.mit.edu	37	chr6	56336894	56336896	+	In_Frame_Del	DEL	CTT	CTT	-																															aggcatcattgagtttcctcCttctttccaacgccaggagc																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:56336894_56336896delCTT	ENST00000370754.5	-	94	22025_22027	c.22026_22028delAAG	c.(22024-22029)agaagg>agg	p.7342_7343RR>R	DST_ENST00000370788.2_In_Frame_Del_p.4967_4968RR>R|DST_ENST00000446842.2_In_Frame_Del_p.6838_6839RR>R|DST_ENST00000421834.2_Intron|DST_ENST00000370769.4_In_Frame_Del_p.7164_7165RR>R|DST_ENST00000244364.6_In_Frame_Del_p.4750_4751RR>R|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_In_Frame_Del_p.7053_7054RR>R			Q03001	DYST_HUMAN	dystonin	7162	GAR.				cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GAGTTTCCTCCTTCTTTCCAACG	0.453													-	56336896	CTT	-	56336894	7	5	633	1	0	1	0	1	0	0	0	0	4822	681	24	0	1303	0	DST	6	56336894	In_Frame_Del	DEL	CTT	TCGA-P5-A5ET-01A-11D-A27K-08		56336894	114778173	8	51486											
MYO6	4646	broad.mit.edu	37	chr6	76604544	76604544	+	Frame_Shift_Del	DEL	C	C	-																															tttccagcttggattcctatCcggtaacttctaagtaagaa																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:76604544delC	ENST00000369981.3	+	29	3403	c.3124delC	c.(3124-3126)ccgfs	p.P1042fs	MYO6_ENST00000369985.4_Intron|MYO6_ENST00000369977.3_Intron|MYO6_ENST00000369975.1_Intron			Q9UM54	MYO6_HUMAN	myosin VI	1042					actin filament-based movement|DNA damage response, signal transduction by p53 class mediator|endocytosis|intracellular protein transport|positive regulation of transcription from RNA polymerase II promoter|regulation of secretion|sensory perception of sound|synaptic transmission	cell cortex|clathrin coated vesicle membrane|coated pit|cytosol|DNA-directed RNA polymerase II, holoenzyme|filamentous actin|Golgi apparatus|nuclear membrane|perinuclear region of cytoplasm|ruffle membrane|unconventional myosin complex	actin filament binding|ADP binding|ATP binding|calmodulin binding|minus-end directed microfilament motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		GGATTCCTATCCGGTAACTTC	0.289													-	76604544	C	-	76604544	7	5	633	1	0	1	0	1	0	0	0	0	10157	870	30	0		0	MYO6	6	76604544	Frame_Shift_Del	DEL	C	TCGA-P5-A5ET-01A-11D-A27K-08	20267650	76604544	94510523	9	51487											
MAP3K4	4216	broad.mit.edu	37	chr6	161528964	161528964	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaggtgtacacctgcaTcagcgtcgacaccggggagc	9	6	15	11	3	1	0	1	0	0	0	2	3	1	2	2	4	4	2	2	4	2	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:161528964T>G	ENST00000392142.4	+	21	4230	c.4082T>G	c.(4081-4083)aTc>aGc	p.I1361S	MAP3K4_ENST00000348824.7_Missense_Mutation_p.I1307S|MAP3K4_ENST00000366919.2_Missense_Mutation_p.I1311S|MAP3K4_ENST00000366920.2_Missense_Mutation_p.I1357S	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1361	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		TACACCTGCATCAGCGTCGAC	0.552													G	161528964	T	G	161528964	3	3	633	1	0	0	0	0	1	0	0	0	9327	1435	50	5	4164	5	MAP3K4	6	161528964	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08	84924420	161528964	9586103	10	51488											
DLL1	28514	broad.mit.edu	37	chr6	170594119	170594119	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggggctgtctgagcaccgAcccccgttaaagcaagggcc	8	6	13	14	3	1	1	0	1	1	0	2	2	1	1	4	3	2	4	4	3	3	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr6:170594119A>C	ENST00000366756.3	-	8	1470	c.1137T>G	c.(1135-1137)ggT>ggG	p.G379G		NM_005618.3	NP_005609.3	O00548	DLL1_HUMAN	delta-like 1 (Drosophila)	379	EGF-like 5.				cell communication|cell fate determination|hemopoiesis|Notch receptor processing|Notch signaling pathway|regulation of cell adhesion	extracellular region|integral to plasma membrane	calcium ion binding|Notch binding			NS(2)|breast(1)|endometrium(1)|large_intestine(7)|lung(17)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	33		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;6.71e-23)|BRCA - Breast invasive adenocarcinoma(81;4.81e-06)|GBM - Glioblastoma multiforme(31;0.0584)		CTGAGCACCGACCCCCGTTAA	0.577													C	170594119	A	C	170594119	2	2	633	1	0	0	0	0	0	0	0	1	4605	262	10	5		5	DLL1	6	170594119	Silent	SNP	A	TCGA-P5-A5ET-01A-11D-A27K-08	9065155	170594119	520948	11	51489											
ABCB1	5243	broad.mit.edu	37	chr7	87170760	87170762	+	In_Frame_Del	DEL	ATC	ATC	-																															ttctgtcgttttgtttcaggAtcatcaattcttgtaaaaac																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:87170760_87170762delATC	ENST00000265724.3	-	19	2647_2649	c.2230_2232delGAT	c.(2230-2232)gatdel	p.D744del	ABCB1_ENST00000543898.1_In_Frame_Del_p.D680del	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	744	ABC transmembrane type-1 2.				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)	TTGTTTCAGGATCATCAATTCTT	0.355													-	87170762	ATC	-	87170760	7	5	633	1	0	1	0	1	0	0	0	0	40	330	12	0	1654	0	ABCB1	7	87170760	In_Frame_Del	DEL	ATC	TCGA-P5-A5ET-01A-11D-A27K-08		87170760	71967903	12	51490											
HBP1	26959	broad.mit.edu	37	chr7	106836571	106836571	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatacagagttgaatatactCagatgtatccagggaaagat	17	10	9	5	0	1	4	1	1	0	3	2	5	2	5	1	1	2	2	1	1	7	5			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr7:106836571C>G	ENST00000222574.4	+	9	1546	c.1360C>G	c.(1360-1362)Cag>Gag	p.Q454E	HBP1_ENST00000468410.1_Missense_Mutation_p.Q454E|HBP1_ENST00000461963.1_3'UTR|HBP1_ENST00000485846.1_Missense_Mutation_p.Q454E	NM_012257.3	NP_036389.2	O60381	HBP1_HUMAN	HMG-box transcription factor 1	454					cell cycle arrest|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	DNA binding			large_intestine(4)|lung(3)|prostate(1)|skin(2)	10						TGAATATACTCAGATGTATCC	0.363													G	106836571	C	G	106836571	3	3	633	1	0	0	0	0	1	0	0	0	7040	827	29	4	1390	4	HBP1	7	106836571	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	19665811	106836571	52302092	13	51491											
DOK2	9046	broad.mit.edu	37	chr8	21769438	21769438	+	Frame_Shift_Del	DEL	T	T	-																															ctgcgctgctgtacaattcaTtttcctccatgcagggccgg																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:21769438delT	ENST00000276420.4	-	3	665	c.407delA	c.(406-408)aatfs	p.N136fs	DOK2_ENST00000544659.1_Intron	NM_003974.2	NP_003965.2	O60496	DOK2_HUMAN	docking protein 2, 56kDa	136					blood coagulation|leukocyte migration	cytosol	identical protein binding|insulin receptor binding			NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(3)|skin(1)	26				Colorectal(74;0.0145)|COAD - Colon adenocarcinoma(73;0.0608)		GTACAATTCATTTTCCTCCAT	0.667													-	21769438	T	-	21769438	7	5	633	1	0	1	0	1	0	0	0	0	4736	1493	52	0	843	0	DOK2	8	21769438	Frame_Shift_Del	DEL	T	TCGA-P5-A5ET-01A-11D-A27K-08		21769438	124594584	14	51492											
EFR3A	23167	broad.mit.edu	37	chr8	132968053	132968055	+	In_Frame_Del	DEL	AAG	AAG	-																															ttctccttctgcaactgacaAagaagagaatcctgctgtgc																								rs138896182		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:132968053_132968055delAAG	ENST00000254624.5	+	7	902_904	c.677_679delAAG	c.(676-681)aaagaa>aaa	p.E228del	EFR3A_ENST00000519656.1_In_Frame_Del_p.E192del|EFR3A_ENST00000334503.4_In_Frame_Del_p.E228del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	228						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			GCAACTGACAAAGAAGAGAATCC	0.384													-	132968055	AAG	-	132968053	7	5	633	1	0	1	0	1	0	0	0	0	4997	14	1	0	703	0	EFR3A	8	132968053	In_Frame_Del	DEL	AAG	TCGA-P5-A5ET-01A-11D-A27K-08	111198615	132968053	13395969	15	51493											
MAPK15	225689	broad.mit.edu	37	chr8	144803509	144803509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagagccgaccctcagctgCcttctaggacacctgtgcag	8	7	10	16	1	2	1	1	0	1	1	2	3	2	2	5	1	4	2	5	1	1	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr8:144803509C>T	ENST00000338033.4	+	11	1251	c.1132C>T	c.(1132-1134)Cct>Tct	p.P378S		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	378					protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			CCCTCAGCTGCCTTCTAGGAC	0.672													T	144803509	C	T	144803509	3	4	633	1	0	0	0	0	1	0	0	0	9352	739	26	2	1174	2	MAPK15	8	144803509	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	11835456	144803509	1560513	16	51494											
NOTCH1	4851	broad.mit.edu	37	chr9	139413129	139413131	+	In_Frame_Del	DEL	TCA	TCA	-																															agcaggcggcgctggcacagTcatcaatgttctcgctgcag																										TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr9:139413129_139413131delTCA	ENST00000277541.6	-	6	1086_1088	c.1011_1013delTGA	c.(1009-1014)gatgac>gac	p.337_338DD>D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	337	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GCTGGCACAGTCATCAATGTTCT	0.631			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413131	TCA	-	139413129	7	5	633	1	0	1	0	1	0	0	0	0	10623	1667	58	0	6770	0	NOTCH1	9	139413129	In_Frame_Del	DEL	TCA	TCGA-P5-A5ET-01A-11D-A27K-08		139413129	1800302	17	51495											
PRKCQ	5588	broad.mit.edu	37	chr10	6472890	6472890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagcctcttctcaggttctCgcacgaagagctgaaaggga	10	8	11	12	2	3	2	1	1	3	1	5	4	3	3	2	2	2	3	2	2	2	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:6472890C>T	ENST00000263125.5	-	17	1946	c.1847G>A	c.(1846-1848)cGa>cAa	p.R616Q	PRKCQ_ENST00000539722.1_Missense_Mutation_p.R491Q|PRKCQ_ENST00000397176.2_Missense_Mutation_p.R553Q	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	616	Protein kinase.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						CTCAGGTTCTCGCACGAAGAG	0.587													T	6472890	C	T	6472890	3	4	633	1	0	0	0	0	1	0	0	0	12601	884	31	1	281	1	PRKCQ	10	6472890	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		6472890	129061857	18	51496											
JMJD1C	221037	broad.mit.edu	37	chr10	64968101	64968101	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atttgaaacttctttggatgGgtatgatcttggtggttcat	8	18	11	4	0	3	2	1	2	2	0	3	3	3	3	0	4	1	2	0	4	2	6			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr10:64968101G>T	ENST00000399262.2	-	10	3546	c.3328C>A	c.(3328-3330)Cca>Aca	p.P1110T	JMJD1C_ENST00000399251.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000402544.1_Missense_Mutation_p.P891T|JMJD1C_ENST00000542921.1_Missense_Mutation_p.P928T	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	1110					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					TCTTTGGATGGGTATGATCTT	0.383													T	64968101	G	T	64968101	3	4	633	1	0	0	0	0	1	0	0	0	8008	1232	43	4	4362	4	JMJD1C	10	64968101	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	58495211	64968101	70566646	19	51497											
ATG2A	23130	broad.mit.edu	37	chr11	64665787	64665787	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acgcggagacagcactcaggCccacccaggttggtagtggg	9	5	15	12	2	1	1	1	0	0	1	1	2	1	1	2	5	1	3	2	5	1	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:64665787C>T	ENST00000421419.2	-	33	4839	c.4725G>A	c.(4723-4725)ggG>ggA	p.G1575G	ATG2A_ENST00000377264.3_Silent_p.G1573G			Q2TAZ0	ATG2A_HUMAN	autophagy related 2A	1573							protein binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(19)|ovary(3)|prostate(5)|skin(1)|stomach(1)|urinary_tract(3)	55						AGCACTCAGGCCCACCCAGGT	0.637											OREG0004029	type=REGULATORY REGION|Gene=BC033850|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	64665787	C	T	64665787	2	4	633	1	0	0	0	0	0	0	0	1	1098	726	26	2		2	ATG2A	11	64665787	Silent	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		64665787	70340729	20	51498											
SPTBN2	6712	broad.mit.edu	37	chr11	66454995	66454995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctctgggcctcgaggcgGcagggtggcagcatgggctg	4	7	20	10	2	1	0	0	0	1	0	2	1	1	0	1	7	1	5	1	7	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:66454995G>A	ENST00000533211.1	-	35	6956	c.6625C>T	c.(6625-6627)Ccg>Tcg	p.P2209S	SPTBN2_ENST00000309996.2_Missense_Mutation_p.P2209S|SPTBN2_ENST00000529997.1_Missense_Mutation_p.P2209S			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2209					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						CCTCGAGGCGGCAGGGTGGCA	0.672													A	66454995	G	A	66454995	3	1	633	1	0	0	0	0	1	0	0	0	15216	1203	42	2	563	2	SPTBN2	11	66454995	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1789208	66454995	68551521	21	51499											
TCIRG1	10312	broad.mit.edu	37	chr11	67816587	67816587	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctgctgctggagacgctGccggagctcaccttcctgct	4	9	13	15	3	1	1	1	0	0	1	2	3	2	2	3	3	5	6	3	3	0	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:67816587G>T	ENST00000265686.3	+	15	1821	c.1713G>T	c.(1711-1713)ctG>ctT	p.L571L	TCIRG1_ENST00000532635.1_Silent_p.L355L	NM_006019.3	NP_006010.2	Q13488	VPP3_HUMAN	T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3	571					ATP hydrolysis coupled proton transport|cellular defense response|cellular iron ion homeostasis|insulin receptor signaling pathway|positive regulation of cell proliferation|transferrin transport	apical plasma membrane|endosome membrane|integral to plasma membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	hydrogen ion transmembrane transporter activity			breast(1)|endometrium(4)|large_intestine(3)|lung(4)|ovary(3)|prostate(1)	16						TGGAGACGCTGCCGGAGCTCA	0.667													T	67816587	G	T	67816587	2	4	633	1	0	0	0	0	0	0	0	1	15803	1306	46	4		4	TCIRG1	11	67816587	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	1361592	67816587	67189929	22	51500											
ARHGEF12	23365	broad.mit.edu	37	chr11	120312904	120312904	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagttctttctagatcGatcagcagtaagttgccaag	11	13	8	9	1	5	1	3	0	2	1	6	2	5	1	1	0	2	4	1	0	3	5			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr11:120312904G>T	ENST00000397843.2	+	15	1461	c.1295G>T	c.(1294-1296)cGa>cTa	p.R432L	ARHGEF12_ENST00000356641.3_Missense_Mutation_p.R413L|ARHGEF12_ENST00000532993.1_Missense_Mutation_p.R329L	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	432	RGSL.				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		TTTCTAGATCGATCAGCAGTA	0.388			T	MLL	AML								T	120312904	G	T	120312904	3	4	633	1	0	0	0	0	1	0	0	0	900	1058	37	4	1353	4	ARHGEF12	11	120312904	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	52496317	120312904	14693612	23	51501											
LDHB	3945	broad.mit.edu	37	chr12	21797028	21797028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactacaatcttagaattggCagtcacagaataatctttaa	16	12	5	8	0	3	2	1	0	2	2	3	2	3	2	0	1	1	1	0	1	7	6	rs145369309		TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:21797028C>T	ENST00000396076.1	-	4	594	c.262G>A	c.(262-264)Gcc>Acc	p.A88T	LDHB_ENST00000350669.1_Missense_Mutation_p.A88T	NM_001174097.1	NP_001167568.1	P07195	LDHB_HUMAN	lactate dehydrogenase B	88					glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	26					NADH(DB00157)	TTAGAATTGGCAGTCACAGAA	0.373													T	21797028	C	T	21797028	3	4	633	1	0	0	0	0	1	0	0	0	8760	710	25	2	762	2	LDHB	12	21797028	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		21797028	112054867	24	51502											
EP400	57634	broad.mit.edu	37	chr12	132547108	132547108	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacaacagcagcagcagcaGcagcagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr12:132547108G>A	ENST00000333577.4	+	48	8413	c.8304G>A	c.(8302-8304)caG>caA	p.Q2768Q	EP400_ENST00000330386.6_Silent_p.Q2651Q|EP400_ENST00000332482.4_Silent_p.Q2695Q|EP400_ENST00000389561.2_Silent_p.Q2732Q|EP400_ENST00000389562.2_Silent_p.Q2731Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2768	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			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)		agcagcagcagcagcagcagc	0.587													A	132547108	G	A	132547108	2	1	633	1	0	0	0	0	0	0	0	1	5190	962	34	2		2	EP400	12	132547108	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	110750080	132547108	1304787	25	51503											
JPH3	57338	broad.mit.edu	37	chr16	87678405	87678405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgagccagcgctcggacggGctcaagtacgagggcgagtg	8	5	18	10	5	1	1	1	1	0	0	2	4	1	2	1	3	3	3	1	3	2	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr16:87678405G>A	ENST00000284262.2	+	2	1166	c.924G>A	c.(922-924)ggG>ggA	p.G308G		NM_020655.2	NP_065706.2	Q8WXH2	JPH3_HUMAN	junctophilin 3	308					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(80;0.0287)		GCTCGGACGGGCTCAAGTACG	0.642													A	87678405	G	A	87678405	2	1	633	1	0	0	0	0	0	0	0	1	8020	1190	42	2		2	JPH3	16	87678405	Silent	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		87678405	2676348	26	51504											
MLLT6	4302	broad.mit.edu	37	chr17	36872811	36872811	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggcccatcatgcgcttcTccaccaccacctccagctca	7	9	6	19	1	3	0	2	0	1	0	5	0	4	0	6	1	2	2	6	1	0	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:36872811T>A	ENST00000325718.7	+	10	1319	c.1228T>A	c.(1228-1230)Tcc>Acc	p.S410T	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	410					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					CATGCGCTTCTCCACCACCAC	0.662			T	MLL	AL								A	36872811	T	A	36872811	3	1	633	1	0	0	0	0	1	0	0	0	9705	1551	54	5	1266	5	MLLT6	17	36872811	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		36872811	44322399	27	51505											
COIL	8161	broad.mit.edu	37	chr17	55038183	55038183	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgcgctctcggcggggggCaagagccccccctccaggta	5	4	15	17	5	1	1	0	0	1	1	3	1	2	1	4	5	1	3	4	5	2	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:55038183C>G	ENST00000240316.4	-	1	232	c.198G>C	c.(196-198)ttG>ttC	p.L66F		NM_004645.2	NP_004636.1	P38432	COIL_HUMAN	coilin	66						Cajal body|nucleolus	protein C-terminus binding			NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	15	Breast(9;6.15e-08)					CGGCGGGGGGCAAGAGCCCCC	0.697													G	55038183	C	G	55038183	3	3	633	1	0	0	0	0	1	0	0	0	3696	709	25	4	1560	4	COIL	17	55038183	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	18165372	55038183	26157027	28	51506											
TANC2	26115	broad.mit.edu	37	chr17	61498201	61498201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgagaagtaaccagcccagcCcagccgtccattcaagcacc	12	5	8	16	1	1	1	1	1	0	1	2	2	2	1	6	0	5	2	6	0	3	2			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:61498201C>T	ENST00000424789.2	+	25	4862	c.4858C>T	c.(4858-4860)Cca>Tca	p.P1620S	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.P1630S	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1620							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CCAGCCCAGCCCAGCCGTCCA	0.577													T	61498201	C	T	61498201	3	4	633	1	0	0	0	0	1	0	0	0	15642	623	22	2	4956	2	TANC2	17	61498201	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	6460018	61498201	19697009	29	51507											
AMZ2	51321	broad.mit.edu	37	chr17	66246612	66246612	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catttatatacagtccattgGtaaatactggtaatgtgctg	12	15	8	6	0	0	0	0	0	0	0	1	0	1	0	1	2	3	3	1	2	7	8			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:66246612G>A	ENST00000359904.3	+	2	1415		c.e2+1		AMZ2_ENST00000577985.1_Splice_Site|AMZ2_ENST00000580753.1_Splice_Site|AMZ2_ENST00000392720.2_Splice_Site|AMZ2_ENST00000359783.4_Splice_Site|AMZ2_ENST00000577866.1_Splice_Site|AMZ2_ENST00000585050.1_Splice_Site|AMZ2_ENST00000577273.1_Splice_Site	NM_016627.4	NP_057711.3	Q86W34	AMZ2_HUMAN	archaelysin family metallopeptidase 2								metallopeptidase activity|zinc ion binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	all_cancers(12;1.12e-09)		BRCA - Breast invasive adenocarcinoma(8;3.17e-08)|LUSC - Lung squamous cell carcinoma(166;0.24)			CAGTCCATTGGTAAATACTGG	0.463													A	66246612	G	A	66246612	5	1	633	1	0	0	0	0	0	0	1	0	597	1275	44	2	286	2	AMZ2	17	66246612	Splice_Site	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	4748411	66246612	14948598	30	51508											
SLC38A10	124565	broad.mit.edu	37	chr17	79219799	79219799	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtccagccggtggccctGctgtccaccctgctcgccat	4	9	11	17	2	0	0	0	0	0	0	3	0	2	0	6	3	3	2	6	3	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr17:79219799G>A	ENST00000374759.3	-	16	3300	c.2917C>T	c.(2917-2919)Cag>Tag	p.Q973*		NM_001037984.1	NP_001033073.1	Q9HBR0	S38AA_HUMAN	solute carrier family 38, member 10	973					amino acid transport|sodium ion transport	integral to membrane				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			CGGTGGCCCTGCTGTCCACCC	0.692													A	79219799	G	A	79219799	4	1	633	1	0	0	0	0	0	1	0	0	14696	1328	46	2	446	2	SLC38A10	17	79219799	Nonsense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08	12973187	79219799	1975411	31	51509											
DOT1L	84444	broad.mit.edu	37	chr19	2226268	2226268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaccttctcgcccatctccGacatcggcctggccaagtcg	6	8	8	19	4	2	0	0	0	2	0	6	1	2	0	6	2	0	0	6	2	1	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:2226268G>A	ENST00000398665.3	+	27	3784	c.3748G>A	c.(3748-3750)Gac>Aac	p.D1250N		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	1250						nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		Hepatocellular(1079;0.137)		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)		GCCCATCTCCGACATCGGCCT	0.677													A	2226268	G	A	2226268	3	1	633	1	0	0	0	0	1	0	0	0	4748	1058	37	1	3854	1	DOT1L	19	2226268	Missense_Mutation	SNP	G	TCGA-P5-A5ET-01A-11D-A27K-08		2226268	56902715	32	51510											
PRR19	284338	broad.mit.edu	37	chr19	42814088	42814088	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagggcccaggaaccagccCcacggtccagggacaaagag	12	1	14	14	1	0	1	0	0	0	1	1	3	1	3	5	4	2	1	5	4	2	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr19:42814088C>T	ENST00000499536.2	+	1	1163	c.352C>T	c.(352-354)Cca>Tca	p.P118S	PRR19_ENST00000341747.3_Missense_Mutation_p.P118S|PRR19_ENST00000598490.1_Missense_Mutation_p.P118S			A6NJB7	PRR19_HUMAN	proline rich 19	118										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				GGAACCAGCCCCACGGTCCAG	0.672													T	42814088	C	T	42814088	3	4	633	1	0	0	0	0	1	0	0	0	12677	623	22	2	354	2	PRR19	19	42814088	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08	40587820	42814088	16314895	33	51511											
GATSL3	652968	broad.mit.edu	37	chr22	30683477	30683477	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcctgcactgccgcaCcgctgtgagacgacacgttc	8	6	11	16	4	0	1	0	1	0	1	1	3	0	1	3	0	4	5	3	0	0	1			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chr22:30683477C>T	ENST00000407689.3	-	3	386	c.257G>A	c.(256-258)gGt>gAt	p.G86D	GATSL3_ENST00000404953.3_Missense_Mutation_p.G86D|RP1-130H16.18_ENST00000447976.1_3'UTR	NM_001037666.2	NP_001032755.1			GATS protein-like 3											breast(1)|endometrium(1)|lung(1)	3						CACTGCCGCACCGCTGTGAGA	0.627											OREG0026457	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	30683477	C	T	30683477	3	4	633	1	0	0	0	0	1	0	0	0	6319	507	18	2	760	2	GATSL3	22	30683477	Missense_Mutation	SNP	C	TCGA-P5-A5ET-01A-11D-A27K-08		30683477	20621089	34	51512											
ZBED1	9189	broad.mit.edu	37	chrX	2406764	2406764	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctggtccaggccccacTccccctcgtcctggtcctcg	2	9	9	21	2	0	0	0	0	0	0	7	0	5	0	8	3	0	1	8	3	0	0			TCGA-P5-A5ET-01A-11D-A27K-08	TCGA-P5-A5ET-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	236fee8c-7daa-4486-9f81-62c185c37644	01325296-d7a6-46e7-bd59-30809d85a1cf	g.chrX:2406764T>C	ENST00000381223.4	-	2	2200	c.1997A>G	c.(1996-1998)gAg>gGg	p.E666G	DHRSX_ENST00000334651.5_Intron|ZBED1_ENST00000381222.2_Missense_Mutation_p.E666G|ZBED1_ENST00000381218.3_Missense_Mutation_p.E666G|ZBED1_ENST00000515319.1_Intron	NM_001171135.1|NM_001171136.1|NM_004729.3	NP_001164606.1|NP_001164607.1|NP_004720.1	O96006	ZBED1_HUMAN	zinc finger, BED-type containing 1	666						nuclear chromosome	DNA binding|metal ion binding|protein dimerization activity|transposase activity			endometrium(8)|kidney(1)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	25		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CAGGCCCCACTCCCCCTCGTC	0.647													C	2406764	T	C	2406764	3	2	633	1	0	0	0	0	1	0	0	0	17619	1551	54	3	91	3	ZBED1	23	2406764	Missense_Mutation	SNP	T	TCGA-P5-A5ET-01A-11D-A27K-08		2406764	152863796	35	51513											
C8A	731	broad.mit.edu	37	chr1	57341750	57341750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggtcgctgcctgaaacGccaccttgtgtgtaatggag	8	10	12	11	2	0	1	0	1	0	0	2	2	1	2	4	2	2	2	4	2	2	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:57341750G>A	ENST00000361249.3	+	4	428	c.332G>A	c.(331-333)cGc>cAc	p.R111H		NM_000562.2	NP_000553.1	P07357	CO8A_HUMAN	complement component 8, alpha polypeptide	111	LDL-receptor class A.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular space|membrane attack complex				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(25)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	43						TGCCTGAAACGCCACCTTGTG	0.542													A	57341750	G	A	57341750	3	1	634	1	0	0	0	0	1	0	0	0	2440	1087	38	1	346	1	C8A	1	57341750	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		57341750	191908871	1	51514											
RPE65	6121	broad.mit.edu	37	chr1	68904625	68904625	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtccagtgtcctttcttacCctttccagcagcagagatcc	7	13	7	14	0	1	1	0	0	1	1	5	2	5	1	5	0	3	2	5	0	1	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:68904625C>A	ENST00000262340.5	-	9	1051	c.998G>T	c.(997-999)gGa>gTa	p.G333V		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	333					visual perception	cytoplasm|plasma membrane	all-trans-retinyl-palmitate hydrolase activity|metal ion binding|retinol isomerase activity			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						CCTTTCTTACCCTTTCCAGCA	0.423													A	68904625	C	A	68904625	5	1	634	1	0	0	0	0	0	0	1	0	13636	637	22	4	627	4	RPE65	1	68904625	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11562875	68904625	180345996	2	51515											
RSBN1	54665	broad.mit.edu	37	chr1	114308980	114308980	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaatgacatttctagggatGaagtagatatcattgtcgca	13	13	10	5	1	2	4	1	3	1	1	3	5	2	5	0	1	0	2	0	1	5	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:114308980G>A	ENST00000261441.5	-	7	2094	c.2031C>T	c.(2029-2031)ttC>ttT	p.F677F	RSBN1_ENST00000369581.2_5'UTR	NM_018364.3	NP_060834.2	Q5VWQ0	RSBN1_HUMAN	round spermatid basic protein 1	677						nucleus		p.F677F(1)		breast(1)|endometrium(2)|large_intestine(4)|lung(16)|ovary(1)|prostate(3)|urinary_tract(2)	29	Lung SC(450;0.184)	all_cancers(81;3.78e-08)|all_epithelial(167;5.56e-08)|all_lung(203;6.97e-06)|Lung NSC(69;1.18e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTAGGGATGAAGTAGATAT	0.443													A	114308980	G	A	114308980	2	1	634	1	0	0	0	0	0	0	0	1	13787	1281	45	2		2	RSBN1	1	114308980	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	45404355	114308980	134941641	3	51516											
MPZ	4359	broad.mit.edu	37	chr1	161275672	161275672	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcccgctaaccgctatttCttatccttgcgagactcccc	6	11	7	17	4	1	1	0	0	1	1	3	2	3	1	5	1	2	2	5	1	3	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr1:161275672C>T	ENST00000336559.4	-	7	806	c.740G>A	c.(739-741)aGa>aAa	p.R247K	MPZ_ENST00000526189.1_5'UTR|MPZ_ENST00000491222.2_Silent_p.K51K|MPZ_ENST00000533357.1_Silent_p.K247K|MPZ_ENST00000360451.6_Silent_p.K257K			P25189	MYP0_HUMAN	myelin protein zero	0					synaptic transmission	integral to plasma membrane	structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(1)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	10	all_cancers(52;6.96e-17)|all_hematologic(112;0.093)	Breast(1374;0.181)	BRCA - Breast invasive adenocarcinoma(70;0.00376)			ACCGCTATTTCTTATCCTTGC	0.592													T	161275672	C	T	161275672	3	4	634	1	0	0	0	0	1	0	0	0	9824	912	32	2	9	2	MPZ	1	161275672	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	46966692	161275672	87974949	4	51517											
APOB	338	broad.mit.edu	37	chr2	21225141	21225141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggatcaaaatattcttcacGaagggccataatgtattgat	14	13	8	6	1	3	1	2	1	1	0	3	3	3	2	1	2	0	1	1	2	6	6			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:21225141G>A	ENST00000233242.1	-	29	13280	c.13153C>T	c.(13153-13155)Cgt>Tgt	p.R4385C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	4385					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TATTCTTCACGAAGGGCCATA	0.363													A	21225141	G	A	21225141	3	1	634	1	0	0	0	0	1	0	0	0	788	1058	37	1	542	1	APOB	2	21225141	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		21225141	221974232	5	51518											
ZAP70	7535	broad.mit.edu	37	chr2	98354121	98354121	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgggtgccgacgacagctActacactgtaagcctctgcc	9	8	10	14	2	1	0	0	0	1	0	1	2	1	0	3	1	6	2	3	1	3	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:98354121A>G	ENST00000264972.5	+	11	1690	c.1475A>G	c.(1474-1476)tAc>tGc	p.Y492C	ZAP70_ENST00000463643.1_3'UTR|ZAP70_ENST00000451498.2_Missense_Mutation_p.Y185C|ZAP70_ENST00000442208.1_Missense_Mutation_p.Y366C	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	492	Protein kinase.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GACGACAGCTACTACACTGTA	0.637													G	98354121	A	G	98354121	3	3	634	1	0	0	0	0	1	0	0	0	17616	391	14	3	1509	3	ZAP70	2	98354121	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	77128980	98354121	144845252	6	51519											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	634	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	110758991	209113112	34086261	7	51520											
OTOS	150677	broad.mit.edu	37	chr2	241079506	241079506	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcacaggcttggcccCtgcaaaggaagagaagagct	11	6	12	12	0	0	2	0	0	0	2	1	4	1	3	3	3	3	4	3	3	3	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr2:241079506C>T	ENST00000391989.2	-	4	289		c.e4-1		OTOS_ENST00000319460.1_Splice_Site			Q8NHW6	OTOSP_HUMAN	otospiralin							extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		GGCTTGGCCCCTGCAAAGGAA	0.572													T	241079506	C	T	241079506	5	4	634	1	0	0	0	0	0	0	1	0	11385	695	24	2	219	2	OTOS	2	241079506	Splice_Site	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	31966394	241079506	2119867	8	51521											
RTP2	344892	broad.mit.edu	37	chr3	187416395	187416395	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagttgtagccggatcccGcctgggccctcggcttggag	6	8	15	12	3	0	1	0	0	0	1	2	3	1	3	4	4	1	3	4	4	2	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr3:187416395G>A	ENST00000358241.1	-	2	997	c.569C>T	c.(568-570)gCg>gTg	p.A190V		NM_001004312.2	NP_001004312.2	Q5QGT7	RTP2_HUMAN	receptor (chemosensory) transporter protein 2	190					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			large_intestine(3)|lung(14)|skin(1)	18	all_cancers(143;4.06e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0515)		GCCGGATCCCGCCTGGGCCCT	0.612													A	187416395	G	A	187416395	3	1	634	1	0	0	0	0	1	0	0	0	13825	1087	38	1	112	1	RTP2	3	187416395	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		187416395	10606035	9	51522											
GPR78	27201	broad.mit.edu	37	chr4	8583134	8583134	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccttctcaggcgctgcacTtggctgctcgtggcttggct	2	12	14	13	2	1	0	1	0	1	0	3	0	1	0	1	5	2	6	1	5	0	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr4:8583134T>G	ENST00000382487.4	+	1	842	c.425T>G	c.(424-426)cTt>cGt	p.L142R	GPR78_ENST00000509216.1_Intron	NM_080819.4	NP_543009.2	Q96P69	GPR78_HUMAN	G protein-coupled receptor 78	142					activation of adenylate cyclase activity by G-protein signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	p.L142H(1)		central_nervous_system(4)|kidney(4)|large_intestine(1)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						GGCGCTGCACTTGGCTGCTCG	0.711													G	8583134	T	G	8583134	3	3	634	1	0	0	0	0	1	0	0	0	6764	1609	56	5	427	5	GPR78	4	8583134	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		8583134	182571142	10	51523											
CDH6	1004	broad.mit.edu	37	chr5	31318075	31318075	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctccccatggtgaggggCtcacactgttactgtgacac	8	11	10	12	0	2	2	1	2	1	0	3	2	2	2	2	3	1	2	2	3	2	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:31318075C>T	ENST00000514738.1	+	11	2191	c.1761C>T	c.(1759-1761)ggC>ggT	p.G587G	CDH6_ENST00000265071.2_Intron			P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	0	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGGTGAGGGGCTCACACTGTT	0.522													T	31318075	C	T	31318075	2	4	634	1	0	0	0	0	0	0	0	1	3144	812	28	2		2	CDH6	5	31318075	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		31318075	149597185	11	51524											
PIK3R1	5295	broad.mit.edu	37	chr5	67591097	67591097	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaattgacaaacgtatgAacagcattaaaccagacctt	18	8	7	8	1	0	4	0	2	0	2	0	5	0	4	2	0	4	2	2	0	6	4			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:67591097A>G	ENST00000521381.1	+	13	2306	c.1690A>G	c.(1690-1692)Aac>Gac	p.N564D	PIK3R1_ENST00000274335.5_Missense_Mutation_p.N564D|PIK3R1_ENST00000336483.5_Missense_Mutation_p.N294D|PIK3R1_ENST00000521657.1_Missense_Mutation_p.N564D|PIK3R1_ENST00000523872.1_Missense_Mutation_p.N201D|PIK3R1_ENST00000320694.8_Missense_Mutation_p.N264D|PIK3R1_ENST00000396611.1_Missense_Mutation_p.N564D	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	564					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.N564D(4)|p.D560_S565del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	CAAACGTATGAACAGCATTAA	0.373			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			G	67591097	A	G	67591097	3	3	634	1	0	0	0	0	1	0	0	0	11995	246	9	3	1866	3	PIK3R1	5	67591097	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	36273022	67591097	113324163	12	51525											
ANKRD34B	340120	broad.mit.edu	37	chr5	79854526	79854526	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtttgggtaacactgtgaTctaaagggaaagctcctgaa	12	11	12	6	0	1	2	0	2	1	0	2	3	2	3	1	3	2	3	1	3	5	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr5:79854526T>C	ENST00000338682.3	-	5	1985	c.1313A>G	c.(1312-1314)gAt>gGt	p.D438G		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	438						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AACACTGTGATCTAAAGGGAA	0.453													C	79854526	T	C	79854526	3	2	634	1	0	0	0	0	1	0	0	0	663	1435	50	3	235	3	ANKRD34B	5	79854526	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	12263429	79854526	101060734	13	51526											
STX11	8676	broad.mit.edu	37	chr6	144508400	144508400	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatcgagagccgccaccgCgaactgctgcgcctggagag	9	4	15	13	5	0	3	0	0	0	3	1	7	0	3	4	1	4	1	4	1	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr6:144508400C>T	ENST00000367568.4	+	2	819	c.636C>T	c.(634-636)cgC>cgT	p.R212R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	212	t-SNARE coiled-coil homology.			ARAALNEIESRHRELLRLESR -> RGPPTTRSRAATANCC AWRAA (in Ref. 2; AAC24031).	cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCCGCCACCGCGAACTGCTGC	0.637									Familial Hemophagocytic Lymphohistiocytosis				T	144508400	C	T	144508400	2	4	634	1	0	0	0	0	0	0	0	1	15433	755	27	1		1	STX11	6	144508400	Silent	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		144508400	26606667	14	51527											
AEBP1	165	broad.mit.edu	37	chr7	44151920	44151920	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacctttcgccagatgccacGgtgaggctacagcctggctg	7	9	12	13	2	0	2	0	1	0	1	1	2	0	2	4	3	4	2	4	3	2	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:44151920G>A	ENST00000223357.3	+	17	2522	c.2217G>A	c.(2215-2217)acG>acA	p.T739T	AEBP1_ENST00000450684.2_Splice_Site_p.T314T	NM_001129.3	NP_001120.3	Q8IUX7	AEBP1_HUMAN	AE binding protein 1	739	Interaction with PTEN (By similarity).				cell adhesion|muscle organ development|proteolysis|skeletal system development	cytoplasm|extracellular space|nucleus	DNA binding|metallocarboxypeptidase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(13)|upper_aerodigestive_tract(2)	33						CAGATGCCACGGTGAGGCTAC	0.622													A	44151920	G	A	44151920	5	1	634	1	0	0	0	0	0	0	1	0	349	1130	39	1	2283	1	AEBP1	7	44151920	Splice_Site	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		44151920	114986743	15	51528											
MUC17	140453	broad.mit.edu	37	chr7	100679199	100679199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctcctacacctgctgaagGtaccagcatagcaatctcaa	13	9	6	13	0	2	1	1	1	2	0	4	1	2	1	3	1	5	4	3	1	6	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr7:100679199G>A	ENST00000306151.4	+	3	4566	c.4502G>A	c.(4501-4503)gGt>gAt	p.G1501D		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1501	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)					CCTGCTGAAGGTACCAGCATA	0.478													A	100679199	G	A	100679199	3	1	634	1	0	0	0	0	1	0	0	0	10050	1261	44	2	4512	2	MUC17	7	100679199	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	56527279	100679199	58459464	16	51529											
PCM1	5108	broad.mit.edu	37	chr8	17829972	17829972	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaatctacaagtagtaaccGcaaaaatcaattagatacaa	22	8	4	7	1	2	1	1	0	1	1	2	1	2	1	1	0	3	3	1	0	12	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:17829972G>A	ENST00000325083.8	+	23	4158	c.3719G>A	c.(3718-3720)cGc>cAc	p.R1240H	PCM1_ENST00000524226.1_Missense_Mutation_p.R1241H|PCM1_ENST00000519253.1_Missense_Mutation_p.R1240H	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	1240					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		AGTAGTAACCGCAAAAATCAA	0.383			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								A	17829972	G	A	17829972	3	1	634	1	0	0	0	0	1	0	0	0	11660	1087	38	1	3801	1	PCM1	8	17829972	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		17829972	128534050	17	51530											
TOP1MT	116447	broad.mit.edu	37	chr8	144392244	144392244	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggcacacgcaccaggcaAtgctgatcctggggtccagg	9	5	13	14	1	0	1	0	1	0	0	2	1	2	1	4	5	1	4	4	5	1	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144392244A>G	ENST00000523676.1	-	14	1808	c.1403T>C	c.(1402-1404)aTt>aCt	p.I468T	TOP1MT_ENST00000521193.1_Missense_Mutation_p.I468T|TOP1MT_ENST00000329245.4_Missense_Mutation_p.I566T|TOP1MT_ENST00000519148.1_Missense_Mutation_p.I468T			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	566					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	GCACCAGGCAATGCTGATCCT	0.627													G	144392244	A	G	144392244	3	3	634	1	0	0	0	0	1	0	0	0	16465	101	4	3	116	3	TOP1MT	8	144392244	Missense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	126562272	144392244	1971778	18	51531											
EPPK1	83481	broad.mit.edu	37	chr8	144942913	144942913	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgaccagggtggtgactgcGctgaccacctgccgcagggc	6	6	15	14	3	0	2	0	2	0	0	1	3	0	2	4	3	2	2	4	3	0	0			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr8:144942913G>A	ENST00000525985.1	-	2	4580	c.4509C>T	c.(4507-4509)agC>agT	p.S1503S				P58107	EPIPL_HUMAN	epiplakin 1	1503						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TGGTGACTGCGCTGACCACCT	0.687													A	144942913	G	A	144942913	2	1	634	1	0	0	0	0	0	0	0	1	5231	1078	38	1		1	EPPK1	8	144942913	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08	550669	144942913	1421109	19	51532											
OR4C13	283092	broad.mit.edu	37	chr11	49974106	49974106	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggaaatgtgctcattgtGgtcaccatcactgccagccc	10	10	9	12	0	3	0	3	0	0	0	3	1	3	1	3	2	3	1	3	2	2	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:49974106G>T	ENST00000555099.1	+	1	164	c.132G>T	c.(130-132)gtG>gtT	p.V44V		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TGCTCATTGTGGTCACCATCA	0.428													T	49974106	G	T	49974106	2	4	634	1	0	0	0	0	0	0	0	1	11123	1335	47	4		4	OR4C13	11	49974106	Silent	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		49974106	85032410	20	51533											
DAGLA	747	broad.mit.edu	37	chr11	61504678	61504678	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggaaccaaacactacggcCtgattgtggtgggccactcc	9	7	12	13	2	0	1	0	1	0	0	1	2	1	2	4	4	3	0	4	4	3	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr11:61504678C>G	ENST00000257215.5	+	14	1512	c.1396C>G	c.(1396-1398)Ctg>Gtg	p.L466V		NM_006133.2	NP_006124.1	Q9Y4D2	DGLA_HUMAN	diacylglycerol lipase, alpha	466					cell death|lipid catabolic process|platelet activation	integral to membrane|plasma membrane	acylglycerol lipase activity|metal ion binding|triglyceride lipase activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|liver(2)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	43				READ - Rectum adenocarcinoma(4;0.219)		ACACTACGGCCTGATTGTGGT	0.637													G	61504678	C	G	61504678	3	3	634	1	0	0	0	0	1	0	0	0	4260	680	24	4	1446	4	DAGLA	11	61504678	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	11530572	61504678	73501838	21	51534											
GXYLT1	283464	broad.mit.edu	37	chr12	42512817	42512817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttactctgcctttaaagctAtgatgtagctgatcttcagc	9	15	7	10	0	3	2	1	2	2	0	3	2	3	2	1	0	5	3	1	0	5	6	rs115323055	by1000genomes	TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:42512817A>G	ENST00000398675.3	-	3	703	c.471T>C	c.(469-471)caT>caC	p.H157H	GXYLT1_ENST00000280876.6_Silent_p.H126H	NM_001099650.1|NM_173601.1	NP_001093120.1|NP_775872.1	Q4G148	GXLT1_HUMAN	glucoside xylosyltransferase 1	157					O-glycan processing	integral to membrane	UDP-xylosyltransferase activity			kidney(2)|large_intestine(4)|liver(3)|lung(8)	17						CTTTAAAGCTATGATGTAGCT	0.323													G	42512817	A	G	42512817	2	3	634	1	0	0	0	0	0	0	0	1	6958	446	16	3		3	GXYLT1	12	42512817	Silent	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08		42512817	91339078	22	51535											
AMIGO2	347902	broad.mit.edu	37	chr12	47471391	47471391	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggttccaaaaacaccacTcttttacctgcacctgcctt	10	11	6	14	0	1	0	0	0	1	0	2	0	2	0	5	2	4	2	5	2	3	4			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr12:47471391T>A	ENST00000266581.4	-	2	1861	c.1395A>T	c.(1393-1395)agA>agT	p.R465S	AMIGO2_ENST00000429635.1_Missense_Mutation_p.R465S|AMIGO2_ENST00000321382.3_Missense_Mutation_p.R465S|AMIGO2_ENST00000550413.1_Missense_Mutation_p.R465S	NM_181847.4	NP_862830.1	Q86SJ2	AMGO2_HUMAN	adhesion molecule with Ig-like domain 2	465					heterophilic cell-cell adhesion|homophilic cell adhesion	integral to membrane|nucleus|plasma membrane				endometrium(2)|kidney(1)|large_intestine(8)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Renal(347;0.138)|Lung SC(27;0.192)					AAAACACCACTCTTTTACCTG	0.522													A	47471391	T	A	47471391	3	1	634	1	0	0	0	0	1	0	0	0	576	1548	54	5	177	5	AMIGO2	12	47471391	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	4958574	47471391	86380504	23	51536											
PLCB2	5330	broad.mit.edu	37	chr15	40584082	40584082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgctcgttggggccaacgccCcattgacctggctggcaact	6	9	12	14	2	0	1	0	1	0	0	1	1	0	1	4	4	3	4	4	4	2	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr15:40584082C>T	ENST00000260402.3	-	24	2819	c.2570G>A	c.(2569-2571)gGg>gAg	p.G857E	PLCB2_ENST00000456256.2_Missense_Mutation_p.G857E|PLCB2_ENST00000557821.1_Missense_Mutation_p.G853E	NM_001284297.1|NM_004573.2	NP_001271226.1|NP_004564.2	Q00722	PLCB2_HUMAN	phospholipase C, beta 2	857					activation of phospholipase C activity|intracellular signal transduction|lipid catabolic process|phospholipid metabolic process|synaptic transmission	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(3)	39		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;9.38e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0508)		GGCCAACGCCCCATTGACCTG	0.622													T	40584082	C	T	40584082	3	4	634	1	0	0	0	0	1	0	0	0	12105	623	22	2	1023	2	PLCB2	15	40584082	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08		40584082	61947310	24	51537											
TP53	7157	broad.mit.edu	37	chr17	7578280	7578280	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggataagatgctgaggaGgggccagacctaagagcaat	13	6	14	8	1	0	4	0	1	0	3	1	6	0	6	2	4	2	2	2	4	3	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:7578280G>C	ENST00000420246.2	-	6	701	c.569C>G	c.(568-570)cCt>cGt	p.P190R	TP53_ENST00000359597.4_Missense_Mutation_p.P190R|TP53_ENST00000445888.2_Missense_Mutation_p.P190R|TP53_ENST00000455263.2_Missense_Mutation_p.P190R|TP53_ENST00000413465.2_Missense_Mutation_p.P190R|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.P190R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)		ATGCTGAGGAGGGGCCAGACC	0.552		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)			C	7578280	G	C	7578280	3	2	634	1	0	0	0	0	1	0	0	0	16482	1000	35	4	725	4	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-P5-A5EU-01A-11D-A27K-08		7578280	73616930	25	51538											
SLFN12	55106	broad.mit.edu	37	chr17	33738559	33738559	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtaaattacttgcgaccttAaatcatactggcagcttgtc	11	13	8	9	1	1	0	1	0	0	0	2	1	1	0	1	2	4	3	1	2	6	6			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:33738559A>C	ENST00000394562.1	-	6	2058	c.1535T>G	c.(1534-1536)tTa>tGa	p.L512*	SLFN12_ENST00000452764.3_Nonsense_Mutation_p.L512*|SLFN12_ENST00000304905.5_Nonsense_Mutation_p.L512*|SLFN12_ENST00000460530.1_5'UTR			Q8IYM2	SLN12_HUMAN	schlafen family member 12	512							ATP binding			breast(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TTGCGACCTTAAATCATACTG	0.393													C	33738559	A	C	33738559	4	2	634	1	0	0	0	0	0	1	0	0	14828	372	13	5	205	5	SLFN12	17	33738559	Nonsense_Mutation	SNP	A	TCGA-P5-A5EU-01A-11D-A27K-08	26160279	33738559	47456651	26	51539											
KRT15	3866	broad.mit.edu	37	chr17	39673389	39673389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcgatctccaggatgaccCgggagttgtcgatggtggtg	6	11	16	8	3	1	1	0	1	1	0	4	5	1	3	2	4	0	1	2	4	0	1			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:39673389C>T	ENST00000254043.3	-	2	4112	c.527G>A	c.(526-528)cGg>cAg	p.R176Q	KRT15_ENST00000393976.2_Missense_Mutation_p.R176Q|KRT15_ENST00000393981.3_Intron|KRT15_ENST00000393974.3_Intron	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	176	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGGATGACCCGGGAGTTGTC	0.597													T	39673389	C	T	39673389	3	4	634	1	0	0	0	0	1	0	0	0	8510	652	23	1	871	1	KRT15	17	39673389	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	5934830	39673389	41521821	27	51540											
NT5C	30833	broad.mit.edu	37	chr17	73127345	73127345	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctccaggtccaggaaaaagCccggggcttcgtacacactg	10	6	12	13	2	0	0	0	0	0	0	3	1	2	1	3	4	2	3	3	4	3	2			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr17:73127345C>T	ENST00000245552.2	-	2	293	c.206G>A	c.(205-207)gGc>gAc	p.G69D	NT5C_ENST00000582160.1_5'UTR|NT5C_ENST00000579082.1_5'UTR|NT5C_ENST00000578337.1_5'UTR|NT5C_ENST00000582170.1_Missense_Mutation_p.G69D	NM_014595.2	NP_055410.1	Q8TCD5	NT5C_HUMAN	5', 3'-nucleotidase, cytosolic	69					purine base metabolic process|purine nucleotide catabolic process|pyrimidine base metabolic process|pyrimidine deoxyribonucleotide catabolic process|pyrimidine nucleoside catabolic process	cytosol|nucleus	5'-nucleotidase activity|metal ion binding|pyrimidine nucleotide binding					all_lung(278;0.14)|Lung NSC(278;0.168)		LUSC - Lung squamous cell carcinoma(166;0.162)|Lung(188;0.235)			CAGGAAAAAGCCCGGGGCTTC	0.652													T	73127345	C	T	73127345	3	4	634	1	0	0	0	0	1	0	0	0	10760	739	26	2	415	2	NT5C	17	73127345	Missense_Mutation	SNP	C	TCGA-P5-A5EU-01A-11D-A27K-08	33453956	73127345	8067865	28	51541											
DSG4	147409	broad.mit.edu	37	chr18	28993042	28993042	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaatcagtactgacctcccTttgctcggacctaattactt	9	13	5	14	1	1	1	1	1	0	0	3	2	2	2	4	1	3	2	4	1	4	5			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr18:28993042T>A	ENST00000359747.4	+	15	2693	c.2664T>A	c.(2662-2664)ccT>ccA	p.P888P	DSG4_ENST00000308128.4_Silent_p.P869P|RP11-534N16.1_ENST00000581856.1_RNA|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	869					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CTGACCTCCCTTTGCTCGGAC	0.418													A	28993042	T	A	28993042	2	1	634	1	0	0	0	0	0	0	0	1	4818	1596	56	5		5	DSG4	18	28993042	Silent	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		28993042	49084206	29	51542											
TSHZ2	128553	broad.mit.edu	37	chr20	51872176	51872176	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaagttcaagcacaattTccatgttccacaagtcgaat	13	10	6	12	1	1	0	1	0	0	0	4	1	3	0	3	0	1	3	3	0	5	3	rs35790657		TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr20:51872176T>C	ENST00000371497.5	+	2	3066	c.2179T>C	c.(2179-2181)Tcc>Ccc	p.S727P	TSHZ2_ENST00000603338.2_Missense_Mutation_p.S724P|TSHZ2_ENST00000329613.6_Missense_Mutation_p.S724P	NM_001193421.1|NM_173485.5	NP_001180350.1|NP_775756.3	Q9NRE2	TSH2_HUMAN	teashirt zinc finger homeobox 2	727					multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(16)|lung(38)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	84			STAD - Stomach adenocarcinoma(23;0.1)			AAGCACAATTTCCATGTTCCA	0.562													C	51872176	T	C	51872176	3	2	634	1	0	0	0	0	1	0	0	0	16725	1783	62	3	2185	3	TSHZ2	20	51872176	Missense_Mutation	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08		51872176	11153344	30	51543											
GGT5	2687	broad.mit.edu	37	chr22	24628809	24628809	+	Frame_Shift_Del	DEL	A	A	-																															accgcagggttgacgcctgcAaggaaggccgcaggatgctg																										TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:24628809delA	ENST00000327365.4	-	4	994	c.578delT	c.(577-579)ttgfs	p.L193fs	GGT5_ENST00000418439.2_Frame_Shift_Del_p.L117fs|GGT5_ENST00000398292.3_Frame_Shift_Del_p.L193fs|GGT5_ENST00000263112.7_Frame_Shift_Del_p.L161fs	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	193					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						TGACGCCTGCAAGGAAGGCCG	0.662													-	24628809	A	-	24628809	7	5	634	1	0	1	0	1	0	0	0	0	6418	131	5	0	1221	0	GGT5	22	24628809	Frame_Shift_Del	DEL	A	TCGA-P5-A5EU-01A-11D-A27K-08		24628809	26675757	31	51544											
LGALS2	3957	broad.mit.edu	37	chr22	37966744	37966744	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccagattaattacaaagcTgcaggagaaggggtagcagg	14	6	14	7	0	0	2	0	0	0	2	0	3	0	2	1	4	4	4	1	4	5	3			TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chr22:37966744T>C	ENST00000215886.4	-	3	264		c.e3-2			NM_006498.2	NP_006489.1	P05162	LEG2_HUMAN	lectin, galactoside-binding, soluble, 2											breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|stomach(1)	11	Melanoma(58;0.0574)					ATTACAAAGCTGCAGGAGAAG	0.527													C	37966744	T	C	37966744	5	2	634	1	0	0	0	0	0	0	1	0	8801	1594	55	3	318	3	LGALS2	22	37966744	Splice_Site	SNP	T	TCGA-P5-A5EU-01A-11D-A27K-08	13337935	37966744	13337822	32	51545											
ATRX	546	broad.mit.edu	37	chrX	76919034	76919035	+	Frame_Shift_Del	DEL	TT	TT	-																															gaatctgattcagaattgacTtgattttttgcttctaaatg																										TCGA-P5-A5EU-01A-11D-A27K-08	TCGA-P5-A5EU-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	090094cb-6e22-4409-938a-11d3107c33ef	f66ea56c-7053-4147-bb40-9cab955d5957	g.chrX:76919034_76919035delTT	ENST00000373344.5	-	12	4170_4171	c.3956_3957delAA	c.(3955-3957)caafs	p.Q1319fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q1281fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1319					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)	CAGAATTGACTTGATTTTTTGC	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76919035	TT	-	76919034	7	5	634	1	0	1	0	1	0	0	0	0	1213	1606	56	0	3617	0	ATRX	23	76919034	Frame_Shift_Del	DEL	TT	TCGA-P5-A5EU-01A-11D-A27K-08		76919034	78351526	33	51546											
NADK	65220	broad.mit.edu	37	chr1	1686109	1686109	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcaccaccctgaccttcagCcgactccggagaacaacagc	11	6	7	17	2	2	2	2	1	0	1	3	4	3	2	5	1	4	0	5	1	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:1686109C>T	ENST00000344463.4	-	10	1373	c.1152G>A	c.(1150-1152)cgG>cgA	p.R384R	NADK_ENST00000341991.3_Silent_p.R239R|NADK_ENST00000341426.5_Silent_p.R239R|NADK_ENST00000378625.1_Silent_p.R384R|NADK_ENST00000342348.5_Silent_p.R207R			O95544	NADK_HUMAN	NAD kinase	239					ATP metabolic process|NAD metabolic process|water-soluble vitamin metabolic process	cytosol	ATP binding|metal ion binding|NAD+ kinase activity|protein binding			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		TGACCTTCAGCCGACTCCGGA	0.647													T	1686109	C	T	1686109	2	4	635	1	0	0	0	0	0	0	0	1	10213	726	26	2		2	NADK	1	1686109	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1686109	247564512	1	51547											
MTF1	4520	broad.mit.edu	37	chr1	38281148	38281148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tggatgcccgctcctttgcaGagtcccggcatgcacactga	7	9	11	14	2	0	2	0	1	0	1	2	3	2	3	3	2	3	4	3	2	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:38281148G>C	ENST00000373036.4	-	11	2062	c.1922C>G	c.(1921-1923)tCt>tGt	p.S641C		NM_005955.2	NP_005946.2	Q14872	MTF1_HUMAN	metal-regulatory transcription factor 1	641						nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|zinc ion binding			endometrium(3)|kidney(5)|large_intestine(6)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)	31	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				CTCCTTTGCAGAGTCCCGGCA	0.612													C	38281148	G	C	38281148	3	2	635	1	0	0	0	0	1	0	0	0	9998	942	33	4	343	4	MTF1	1	38281148	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	36595039	38281148	210969473	2	51548											
MACF1	23499	broad.mit.edu	37	chr1	39835815	39835815	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattccacctacggaaacttCtatgagtgctaaagagttag	13	12	8	8	1	1	2	0	1	1	1	2	3	2	3	2	1	3	2	2	1	7	7			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39835815C>G	ENST00000564288.1	+	51	13829	c.13052C>G	c.(13051-13053)tCt>tGt	p.S4351C	MACF1_ENST00000539005.1_Missense_Mutation_p.S2289C|MACF1_ENST00000317713.7_Missense_Mutation_p.S2289C|MACF1_ENST00000545844.1_Missense_Mutation_p.S2289C|MACF1_ENST00000361689.2_Missense_Mutation_p.S2289C|MACF1_ENST00000289893.4_Missense_Mutation_p.S2791C|MACF1_ENST00000372915.3_Missense_Mutation_p.S4356C|MACF1_ENST00000567887.1_Missense_Mutation_p.S4388C|MACF1_ENST00000476350.1_3'UTR			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4356					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACGGAAACTTCTATGAGTGCT	0.438													G	39835815	C	G	39835815	3	3	635	1	0	0	0	0	1	0	0	0	9215	913	32	4	13199	4	MACF1	1	39835815	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1554667	39835815	209414806	3	51549											
MACF1	23499	broad.mit.edu	37	chr1	39852993	39852993	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcccaatttctgcaaaattgGagcggctacagtctcagcta	11	10	9	11	1	2	0	1	0	2	0	3	1	2	1	1	2	4	3	1	2	5	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:39852993G>C	ENST00000564288.1	+	58	15256	c.14479G>C	c.(14479-14481)Gag>Cag	p.E4827Q	MACF1_ENST00000539005.1_Missense_Mutation_p.E2744Q|MACF1_ENST00000317713.7_Missense_Mutation_p.E2765Q|MACF1_ENST00000545844.1_Missense_Mutation_p.E2765Q|MACF1_ENST00000361689.2_Missense_Mutation_p.E2765Q|MACF1_ENST00000289893.4_Missense_Mutation_p.E3267Q|MACF1_ENST00000372915.3_Missense_Mutation_p.E4832Q|MACF1_ENST00000567887.1_Missense_Mutation_p.E4864Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	4832					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAAAATTGGAGCGGCTACA	0.453													C	39852993	G	C	39852993	3	2	635	1	0	0	0	0	1	0	0	0	9215	1175	41	4	14654	4	MACF1	1	39852993	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	17178	39852993	209397628	4	51550											
LRRC7	57554	broad.mit.edu	37	chr1	70144065	70144065	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgattctctcttataggAtggagaacctaataagggga	12	13	10	6	0	3	2	0	1	3	1	4	5	3	4	1	4	1	0	1	4	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:70144065A>G	ENST00000370958.1	+	2	194	c.4A>G	c.(4-6)Atg>Gtg	p.M2V	LRRC7_ENST00000310961.5_5'UTR			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	0						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CTCTTATAGGATGGAGAACCT	0.393													G	70144065	A	G	70144065	5	3	635	1	0	0	0	0	0	0	1	0	9090	348	12	3		3	LRRC7	1	70144065	Splice_Site	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	30291072	70144065	179106556	5	51551											
CD58	965	broad.mit.edu	37	chr1	117113546	117113546	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaagcagtgcagcaggcagaCcacgctgaggacccccaggg	12	2	14	13	1	0	2	0	1	0	1	0	3	0	3	3	3	3	5	3	3	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:117113546C>G	ENST00000457047.2	-	1	102	c.49G>C	c.(49-51)Gtc>Ctc	p.V17L	CD58_ENST00000369487.3_Missense_Mutation_p.V17L|CD58_ENST00000369489.5_Missense_Mutation_p.V17L	NM_001144822.1	NP_001138294.1	P19256	LFA3_HUMAN	CD58 molecule	17					blood coagulation|cell-cell adhesion|leukocyte migration	anchored to membrane|integral to plasma membrane	protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(3)|urinary_tract(1)	9	Lung SC(450;0.225)	all_cancers(81;0.000363)|all_lung(203;0.000118)|all_epithelial(167;0.000149)|Lung NSC(69;0.000577)		Lung(183;0.0086)|LUSC - Lung squamous cell carcinoma(189;0.0528)|Colorectal(144;0.0775)|all cancers(265;0.109)|Epithelial(280;0.118)|COAD - Colon adenocarcinoma(174;0.121)		AGCAGGCAGACCACGCTGAGG	0.741													G	117113546	C	G	117113546	3	3	635	1	0	0	0	0	1	0	0	0	3055	507	18	4	731	4	CD58	1	117113546	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	46969481	117113546	132137075	6	51552											
ZNF697	90874	broad.mit.edu	37	chr1	120166640	120166640	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctccgggatatgctgtcaGactcagacagtcctgggaac	9	8	13	11	1	2	2	2	0	0	2	4	4	4	4	2	3	2	2	2	3	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:120166640G>C	ENST00000421812.2	-	3	445	c.326C>G	c.(325-327)tCt>tGt	p.S109C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	109					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TATGCTGTCAGACTCAGACAG	0.622													C	120166640	G	C	120166640	3	2	635	1	0	0	0	0	1	0	0	0	18201	942	33	4	1315	4	ZNF697	1	120166640	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3053094	120166640	129083981	7	51553											
OAZ3	51686	broad.mit.edu	37	chr1	151742722	151742722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacttccagaatgatcGgaacgacagaggtggggatc	12	8	14	7	2	0	4	0	2	0	2	3	7	1	6	1	4	2	0	1	4	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:151742722G>A	ENST00000479764.1	+	3	3523	c.7G>A	c.(7-9)Gga>Aga	p.G3R	OAZ3_ENST00000321531.5_Missense_Mutation_p.R140Q|OAZ3_ENST00000315067.8_Missense_Mutation_p.R140Q|OAZ3_ENST00000453029.2_Missense_Mutation_p.R153Q|OAZ3_ENST00000400999.1_Missense_Mutation_p.G3R			Q9UMX2	OAZ3_HUMAN	ornithine decarboxylase antizyme 3	0					cellular nitrogen compound metabolic process|regulation of cellular amino acid metabolic process|spermatogenesis	cytosol|nucleus	ornithine decarboxylase inhibitor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(4)	9	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)		L-Ornithine(DB00129)	CAGAATGATCGGAACGACAGA	0.473													A	151742722	G	A	151742722	3	1	635	1	0	0	0	0	1	0	0	0	10882	1116	39	1	605	1	OAZ3	1	151742722	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	31576082	151742722	97507899	8	51554											
POU2F1	5451	broad.mit.edu	37	chr1	167384943	167384943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgcacctgtagccagccttCacgccacctccacctctgct	6	9	6	20	1	2	0	1	0	1	0	3	0	3	0	7	0	4	3	7	0	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:167384943C>G	ENST00000367862.5	+	16	2399	c.2164C>G	c.(2164-2166)Cac>Gac	p.H722D	POU2F1_ENST00000367866.2_Missense_Mutation_p.H733D|POU2F1_ENST00000367865.1_3'UTR|POU2F1_ENST00000429375.2_Missense_Mutation_p.H670D|POU2F1_ENST00000541643.3_Missense_Mutation_p.H710D|POU2F1_ENST00000420254.3_Intron	NM_001198783.1	NP_001185712.1	P14859	PO2F1_HUMAN	POU class 2 homeobox 1	710					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(3)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	30						AGCCAGCCTTCACGCCACCTC	0.617													G	167384943	C	G	167384943	3	3	635	1	0	0	0	0	1	0	0	0	12348	826	29	4	2186	4	POU2F1	1	167384943	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15642221	167384943	81865678	9	51555											
FMN2	56776	broad.mit.edu	37	chr1	240370340	240370340	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taggattttagaggcgaaatCgatacagacttcccccacgg	12	9	10	10	3	0	2	0	0	0	2	2	5	1	3	2	3	1	0	2	3	4	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr1:240370340C>T	ENST00000319653.9	+	5	2458	c.2228C>T	c.(2227-2229)tCg>tTg	p.S743L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	743					actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GAGGCGAAATCGATACAGACT	0.572													T	240370340	C	T	240370340	3	4	635	1	0	0	0	0	1	0	0	0	5999	893	31	1	2246	1	FMN2	1	240370340	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	72985397	240370340	8880281	10	51556											
PXDN	7837	broad.mit.edu	37	chr2	1652144	1652144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccgctccgtgagctccgtGttcagcagctgcgagggcac	6	7	14	14	4	1	1	1	1	0	0	3	2	3	1	3	1	5	6	3	1	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:1652144G>C	ENST00000252804.4	-	17	3458	c.3408C>G	c.(3406-3408)aaC>aaG	p.N1136K		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	1136					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		TGAGCTCCGTGTTCAGCAGCT	0.652													C	1652144	G	C	1652144	3	2	635	1	0	0	0	0	1	0	0	0	12935	1368	48	4	1059	4	PXDN	2	1652144	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		1652144	241547229	11	51557											
MYCN	4613	broad.mit.edu	37	chr2	16086010	16086010	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tggagcgccagcgccgcaacGaccttcggtccagctttctc	6	8	11	16	5	1	0	0	0	1	0	4	2	2	1	4	2	4	2	4	2	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:16086010G>C	ENST00000281043.3	+	3	1483	c.1186G>C	c.(1186-1188)Gac>Cac	p.D396H		NM_005378.4	NP_005369.2	P04198	MYCN_HUMAN	v-myc avian myelocytomatosis viral oncogene neuroblastoma derived homolog	396	Helix-loop-helix motif.				regulation of transcription from RNA polymerase II promoter	chromatin|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	31	all_cancers(1;1.35e-08)|all_neural(1;2.92e-24)|Lung SC(1;3.26e-07)|Medulloblastoma(1;6.9e-06)|all_lung(1;1.26e-05)|Glioma(3;0.135)|Acute lymphoblastic leukemia(172;0.155)|all_epithelial(1;0.169)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(3;0.000332)			GCGCCGCAACGACCTTCGGTC	0.572			A		neuroblastoma								C	16086010	G	C	16086010	3	2	635	1	0	0	0	0	1	0	0	0	10097	1058	37	4	1192	4	MYCN	2	16086010	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	14433866	16086010	227113363	12	51558											
UCN	7349	broad.mit.edu	37	chr2	27530422	27530422	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagtcgaatatgatgcggttCtgctcggcgcgctcccgctg	5	10	14	12	6	1	1	0	1	1	0	4	3	2	1	1	2	2	4	1	2	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:27530422C>G	ENST00000296099.2	-	2	640	c.342G>C	c.(340-342)caG>caC	p.Q114H		NM_003353.2	NP_003344.1	P55089	UCN1_HUMAN	urocortin	114						extracellular region	neuropeptide hormone activity			lung(1)|skin(1)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGATGCGGTTCTGCTCGGCGC	0.647													G	27530422	C	G	27530422	3	3	635	1	0	0	0	0	1	0	0	0	17029	912	32	4	36	4	UCN	2	27530422	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	11444412	27530422	215668951	13	51559											
PSME4	23198	broad.mit.edu	37	chr2	54128608	54128608	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taagccctgaagaaacaatcGctggccacgtctgtacaata	14	8	8	11	2	1	2	0	1	1	1	2	2	1	2	2	1	3	2	2	1	7	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:54128608G>A	ENST00000404125.1	-	28	3219	c.3164C>T	c.(3163-3165)gCg>gTg	p.A1055V	PSME4_ENST00000421748.2_Missense_Mutation_p.A199V	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1055					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AGAAACAATCGCTGGCCACGT	0.443													A	54128608	G	A	54128608	3	1	635	1	0	0	0	0	1	0	0	0	12794	1087	38	1	2443	1	PSME4	2	54128608	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26598186	54128608	189070765	14	51560											
ALMS1	7840	broad.mit.edu	37	chr2	73613031	73613032	+	In_Frame_Ins	INS	-	-	GGA																															ctgccatggccgggcgagctINSggaggaggaggaggaggagg																								rs55889738		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:73613031_73613032insGGA	ENST00000264448.6	+	1	146_147	c.35_36insGGA	c.(34-39)ctggag>ctGGAggag	p.28_29insE	ALMS1_ENST00000377715.1_In_Frame_Ins_p.28_29insE|ALMS1_ENST00000409009.1_In_Frame_Ins_p.28_29insE	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	28	Glu-rich.				G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole		p.E27_E28delEE(1)|p.E28_A29insE(1)		breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						CCGGGCGAGCTggaggaggagg	0.698													GGA	73613032	-	GGA	73613031	7	5	635	1	0	1	1	0	0	0	0	0	535	1580	55	0	37	0	ALMS1	2	73613031	In_Frame_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19484423	73613031	169586342	15	51561											
TTN	7273	broad.mit.edu	37	chr2	179615597	179615597	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctccaattgtagtattggCcataatttcttccagctgtc	8	16	6	11	0	2	0	0	0	2	0	5	0	3	0	3	1	1	3	3	1	4	7			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:179615597C>G	ENST00000360870.5	-	46	11752	c.11530G>C	c.(11530-11532)Gcc>Ccc	p.A3844P	TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9679							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAGTATTGGCCATAATTTCT	0.373													G	179615597	C	G	179615597	3	3	635	1	0	0	0	0	1	0	0	0	16837	739	26	4	98767	4	TTN	2	179615597	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	106002566	179615597	63583776	16	51562											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	635	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	29497515	209113112	34086261	17	51563											
USP40	55230	broad.mit.edu	37	chr2	234434186	234434186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcaacactaagaaccatgTctccttcccaaaattctaac	14	11	3	13	0	2	1	0	0	2	1	4	1	3	1	3	0	4	1	3	0	6	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr2:234434186T>C	ENST00000251722.6	-	14	1862	c.1745A>G	c.(1744-1746)gAc>gGc	p.D582G	USP40_ENST00000450966.1_Missense_Mutation_p.D594G|USP40_ENST00000427112.2_Missense_Mutation_p.D582G			Q9NVE5	UBP40_HUMAN	ubiquitin specific peptidase 40	582					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(1)|endometrium(6)|kidney(5)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	30		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0539)		Epithelial(121;1.71e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000407)|Lung(119;0.00277)|LUSC - Lung squamous cell carcinoma(224;0.00646)		AAGAACCATGTCTCCTTCCCA	0.373													C	234434186	T	C	234434186	3	2	635	1	0	0	0	0	1	0	0	0	17174	1667	58	3	2038	3	USP40	2	234434186	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25321074	234434186	8765187	18	51564											
LRRC2	79442	broad.mit.edu	37	chr3	46574300	46574300	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttaattctagatttccagaaCaatccagtctctctagattt	12	16	4	9	0	3	3	0	0	3	3	6	3	5	3	2	0	1	0	2	0	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:46574300C>A	ENST00000395905.3	-	5	982	c.590G>T	c.(589-591)tGt>tTt	p.C197F	LRRC2_ENST00000296144.3_Missense_Mutation_p.C197F	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	197										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		ATTTCCAGAACAATCCAGTCT	0.368													A	46574300	C	A	46574300	3	1	635	1	0	0	0	0	1	0	0	0	9046	478	17	4	545	4	LRRC2	3	46574300	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		46574300	151448130	19	51565											
COL7A1	1294	broad.mit.edu	37	chr3	48628163	48628163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggacccactcgagcagacaCccgcacagtgtagctaagcc	11	4	11	15	2	0	1	0	0	0	1	1	3	0	2	3	1	3	4	3	1	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:48628163C>T	ENST00000328333.8	-	13	1830	c.1723G>A	c.(1723-1725)Gtg>Atg	p.V575M	COL7A1_ENST00000454817.1_Missense_Mutation_p.V575M	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	575	Fibronectin type-III 4.|Nonhelical region (NC1).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CGAGCAGACACCCGCACAGTG	0.612													T	48628163	C	T	48628163	3	4	635	1	0	0	0	0	1	0	0	0	3735	507	18	2	7535	2	COL7A1	3	48628163	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2053863	48628163	149394267	20	51566											
POU1F1	5449	broad.mit.edu	37	chr3	87313619	87313619	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggaggaaatccatgactCaaggtgtggtcaggaaattt	14	10	12	5	0	2	1	2	1	0	0	3	4	3	4	1	5	0	0	1	5	4	2	rs142837047		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:87313619C>G	ENST00000350375.2	-	3	382	c.258G>C	c.(256-258)ttG>ttC	p.L86F	POU1F1_ENST00000344265.3_Missense_Mutation_p.L112F|POU1F1_ENST00000560656.1_Missense_Mutation_p.L86F	NM_000306.2	NP_000297.1	P28069	PIT1_HUMAN	POU class 1 homeobox 1	86					negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(2)	18	all_cancers(8;0.104)|Lung SC(3;0.184)	Lung NSC(201;0.0777)		LUSC - Lung squamous cell carcinoma(29;0.00229)|Lung(72;0.00677)		ATCCATGACTCAAGGTGTGGT	0.413													G	87313619	C	G	87313619	3	3	635	1	0	0	0	0	1	0	0	0	12346	825	29	4	633	4	POU1F1	3	87313619	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	38685456	87313619	110708811	21	51567											
HGD	3081	broad.mit.edu	37	chr3	120347254	120347254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctgctgggttcctggaGttgggagtgaagtggctctt	4	14	17	6	0	2	1	0	1	2	0	3	3	3	3	1	5	1	5	1	5	1	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:120347254G>T	ENST00000283871.5	-	14	1770	c.1311C>A	c.(1309-1311)aaC>aaA	p.N437K		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	437					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		GGTTCCTGGAGTTGGGAGTGA	0.468													T	120347254	G	T	120347254	3	4	635	1	0	0	0	0	1	0	0	0	7139	1020	36	4	30	4	HGD	3	120347254	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	33033635	120347254	77675176	22	51568											
PRR23B	389151	broad.mit.edu	37	chr3	138739058	138739058	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtaggcctcttcctgggcgGcgatctctgggacagatgcg	5	9	15	12	4	2	1	0	0	2	1	4	3	3	2	2	4	1	1	2	4	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr3:138739058G>C	ENST00000329447.5	-	1	710	c.446C>G	c.(445-447)gCc>gGc	p.A149G	MRPS22_ENST00000495075.1_Intron	NM_001013650.2	NP_001013672.1	Q6ZRT6	PR23B_HUMAN	proline rich 23B	149										NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCCTGGGCGGCGATCTCTGG	0.662													C	138739058	G	C	138739058	3	2	635	1	0	0	0	0	1	0	0	0	12681	1203	42	4	355	4	PRR23B	3	138739058	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	18391804	138739058	59283372	23	51569											
PCDH7	5099	broad.mit.edu	37	chr4	30723437	30723437	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacctgtttgagggtcaggtCatcgtgcttgacatcaacga	9	11	12	9	2	3	2	3	2	0	0	4	4	3	2	1	2	2	2	1	2	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:30723437C>G	ENST00000361762.2	+	1	1401	c.393C>G	c.(391-393)gtC>gtG	p.V131V	PCDH7_ENST00000543491.1_Silent_p.V131V	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	131	Cadherin 1.				homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						AGGGTCAGGTCATCGTGCTTG	0.602													G	30723437	C	G	30723437	2	3	635	1	0	0	0	0	0	0	0	1	11592	813	29	4		4	PCDH7	4	30723437	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		30723437	160430839	24	51570											
TBC1D1	23216	broad.mit.edu	37	chr4	38091702	38091702	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattcttcaacagatactgCtgcttagaatggagaaggaa	14	11	9	7	0	2	3	1	0	1	3	2	5	2	4	0	2	4	2	0	2	7	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr4:38091702C>T	ENST00000261439.4	+	13	2555	c.2200C>T	c.(2200-2202)Ctg>Ttg	p.L734L	TBC1D1_ENST00000508802.1_Silent_p.L828L	NM_001253914.1|NM_001253915.1|NM_015173.3	NP_001240843.1|NP_001240844.1|NP_055988.2	Q86TI0	TBCD1_HUMAN	TBC1 (tre-2/USP6, BUB2, cdc16) domain family, member 1	734						nucleus	Rab GTPase activator activity			NS(1)|breast(3)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|prostate(2)|skin(2)|urinary_tract(1)	36						ACAGATACTGCTGCTTAGAAT	0.468													T	38091702	C	T	38091702	2	4	635	1	0	0	0	0	0	0	0	1	15694	796	28	2		2	TBC1D1	4	38091702	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7368265	38091702	153062574	25	51571											
SLC12A7	10723	broad.mit.edu	37	chr5	1079603	1079603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccggaccggtttgaacccgCcatgatacctgtgaacatgg	9	8	11	13	3	0	3	0	3	0	0	0	4	0	4	5	3	3	1	5	3	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:1079603C>G	ENST00000264930.5	-	10	1349	c.1306G>C	c.(1306-1308)Gcg>Ccg	p.A436P		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	436					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)	TTTGAACCCGCCATGATACCT	0.557													G	1079603	C	G	1079603	3	3	635	1	0	0	0	0	1	0	0	0	14482	739	26	4	2005	4	SLC12A7	5	1079603	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		1079603	179835657	26	51572											
LMBRD2	92255	broad.mit.edu	37	chr5	36122537	36122537	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgccattgtacttgagttCgacggtgtctctgaactgaa	8	14	10	9	2	2	3	0	3	2	0	4	4	2	3	1	1	3	2	1	1	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:36122537C>T	ENST00000296603.4	-	9	1427	c.965G>A	c.(964-966)cGa>cAa	p.R322Q		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	322						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			TACTTGAGTTCGACGGTGTCT	0.408													T	36122537	C	T	36122537	3	4	635	1	0	0	0	0	1	0	0	0	8904	884	31	1	1162	1	LMBRD2	5	36122537	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	35042934	36122537	144792723	27	51573											
PCDHA6	56142	broad.mit.edu	37	chr5	140209248	140209248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tacgcgctgcagccgctggaCcacgaggagctagagctgct	8	6	14	13	4	0	1	0	0	0	1	0	4	0	3	2	2	6	6	2	2	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140209248C>G	ENST00000529310.1	+	1	1686	c.1572C>G	c.(1570-1572)gaC>gaG	p.D524E	PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Missense_Mutation_p.D524E|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018909.2|NM_031848.2|NM_031849.1	NP_061732.1|NP_114036.1|NP_114037.1														NS(1)|breast(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(42)|prostate(8)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	89			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCGCTGGACCACGAGGAGC	0.687													G	140209248	C	G	140209248	3	3	635	1	0	0	0	0	1	0	0	0	11604	506	18	4	1574	4	PCDHA6	5	140209248	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	104086711	140209248	40706012	28	51574											
PCDHA10	56139	broad.mit.edu	37	chr5	140237506	140237506	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcccgtttcgcgtggggCtgtacacgggcgagatcagt	6	9	15	11	5	1	1	1	0	0	1	3	2	2	1	1	3	1	4	1	3	1	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:140237506C>G	ENST00000307360.5	+	1	1873	c.1873C>G	c.(1873-1875)Ctg>Gtg	p.L625V	PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCGCGTGGGGCTGTACACGGG	0.632													G	140237506	C	G	140237506	3	3	635	1	0	0	0	0	1	0	0	0	11596	796	28	4	1875	4	PCDHA10	5	140237506	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	28258	140237506	40677754	29	51575											
FAM71B	153745	broad.mit.edu	37	chr5	156593086	156593086	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactctcctctgttgtacaAttgtcgttgcaggtccccca	6	14	8	13	1	2	0	0	0	2	0	5	0	3	0	3	1	3	5	3	1	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:156593086A>G	ENST00000302938.4	-	1	189	c.94T>C	c.(94-96)Ttg>Ctg	p.L32L		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	32						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			CTGTTGTACAATTGTCGTTGC	0.403													G	156593086	A	G	156593086	2	3	635	1	0	0	0	0	0	0	0	1	5658	98	4	3		3	FAM71B	5	156593086	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	16355580	156593086	24322174	30	51576											
BTNL8	79908	broad.mit.edu	37	chr5	180374587	180374587	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgctgtggcctattttttgGcattgttggactgaagattt	6	18	11	6	0	0	2	0	1	0	1	0	3	0	3	1	3	1	3	1	3	2	7			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr5:180374587G>C	ENST00000231229.4	+	4	983	c.749G>C	c.(748-750)gGc>gCc	p.G250A	BTNL8_ENST00000533815.2_Missense_Mutation_p.G66A|BTNL8_ENST00000340184.4_Missense_Mutation_p.G250A|BTNL8_ENST00000508408.1_Missense_Mutation_p.G250A|BTNL8_ENST00000505126.1_Missense_Mutation_p.G43A|BTNL8_ENST00000511704.1_Missense_Mutation_p.G134A|BTNL8_ENST00000400707.3_Missense_Mutation_p.G125A	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	250						integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CTATTTTTTGGCATTGTTGGA	0.458													C	180374587	G	C	180374587	3	2	635	1	0	0	0	0	1	0	0	0	1577	1203	42	4	789	4	BTNL8	5	180374587	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	23781501	180374587	540673	31	51577											
NUP153	9972	broad.mit.edu	37	chr6	17629745	17629745	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatgaggaggctgctgagttCgaagatgaggaagatgtgtc	11	9	17	4	1	0	5	0	3	0	2	2	9	0	7	0	3	1	3	0	3	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:17629745C>T	ENST00000262077.2	-	18	2684	c.2685G>A	c.(2683-2685)tcG>tcA	p.S895S	NUP153_ENST00000537253.1_Silent_p.S926S	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	895					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			CTGCTGAGTTCGAAGATGAGG	0.388													T	17629745	C	T	17629745	2	4	635	1	0	0	0	0	0	0	0	1	10831	871	31	1		1	NUP153	6	17629745	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		17629745	153485322	32	51578											
HIST1H3B	8358	broad.mit.edu	37	chr6	26032175	26032175	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcggtaacggtgaggCtttttcacgccgccggtagc	5	8	15	13	6	1	1	1	1	0	0	1	1	1	1	3	5	2	3	3	5	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:26032175C>G	ENST00000244661.2	-	1	113	c.114G>C	c.(112-114)aaG>aaC	p.K38N		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	38					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						AACGGTGAGGCTTTTTCACGC	0.642													G	26032175	C	G	26032175	3	3	635	1	0	0	0	0	1	0	0	0	7211	796	28	4	300	4	HIST1H3B	6	26032175	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8402430	26032175	145082892	33	51579											
RUNX2	860	broad.mit.edu	37	chr6	45390354	45390355	+	Frame_Shift_Ins	INS	-	-	C																															agcaccagccggcgcttcagINSccccccctccagcagcctgc																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:45390354_45390355insC	ENST00000371438.1	+	2	441_442	c.83_84insC	c.(82-87)agccccfs	p.SP28fs	RUNX2_ENST00000371436.6_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000371432.3_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000576263.1_Frame_Shift_Ins_p.SP28fs|RUNX2_ENST00000352853.5_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000541979.1_Frame_Shift_Ins_p.SP96fs|RUNX2_ENST00000359524.5_Frame_Shift_Ins_p.SP14fs|RUNX2_ENST00000465038.2_Frame_Shift_Ins_p.SP28fs	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	28					negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						CGGCGCTTCAGCCCCCCCTCCA	0.649													C	45390355	-	C	45390354	7	5	635	1	0	1	1	0	0	0	0	0	13839	971	34	0	105	0	RUNX2	6	45390354	Frame_Shift_Ins	INS	-	TCGA-P5-A5EV-01A-11D-A27K-08	19358179	45390354	125724713	34	51580											
GPR116	221395	broad.mit.edu	37	chr6	46830772	46830772	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgagaaccggcatagcttCtggatgactttccccggctc	7	12	10	12	2	1	2	0	2	1	1	3	4	2	3	3	3	2	3	3	3	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:46830772C>G	ENST00000283296.7	-	15	2340	c.2052G>C	c.(2050-2052)caG>caC	p.Q684H	GPR116_ENST00000456426.2_Missense_Mutation_p.Q542H|GPR116_ENST00000362015.4_Missense_Mutation_p.Q684H|GPR116_ENST00000265417.7_Missense_Mutation_p.Q684H|GPR116_ENST00000545669.1_Missense_Mutation_p.Q113H	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	684					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GGCATAGCTTCTGGATGACTT	0.507													G	46830772	C	G	46830772	3	3	635	1	0	0	0	0	1	0	0	0	6687	912	32	4	2016	4	GPR116	6	46830772	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1440418	46830772	124284295	35	51581											
CTGF	1490	broad.mit.edu	37	chr6	132271980	132271980	+	Frame_Shift_Del	DEL	T	T	-																															aggcccttgtgcgggtcgcaTgggtcgcgctcggtgcacag																								rs6934749	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:132271980delT	ENST00000367976.3	-	2	419	c.219delA	c.(217-219)ccafs	p.P73fs		NM_001901.2	NP_001892	P29279	CTGF_HUMAN	connective tissue growth factor	73	IGFBP N-terminal.				cellular lipid metabolic process|DNA replication|epidermis development|regulation of cell growth|response to wounding	plasma membrane|proteinaceous extracellular matrix	heparin binding|insulin-like growth factor binding			breast(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)	13	Breast(56;0.0602)			GBM - Glioblastoma multiforme(226;0.015)|OV - Ovarian serous cystadenocarcinoma(155;0.0169)		GCGGGTCGCATGGGTCGCGCT	0.716													-	132271980	T	-	132271980	7	5	635	1	0	1	0	1	0	0	0	0	4041	1451	51	0	846	0	CTGF	6	132271980	Frame_Shift_Del	DEL	T	TCGA-P5-A5EV-01A-11D-A27K-08	85441208	132271980	38843087	36	51582											
UTRN	7402	broad.mit.edu	37	chr6	145149966	145149966	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctaatgggtcttttctcactGatagcagctccaccacagga	10	11	8	12	0	2	1	1	1	2	0	4	2	3	2	2	2	2	2	2	2	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149966G>C	ENST00000367545.3	+	68	9640	c.9640G>C	c.(9640-9642)Gat>Cat	p.D3214H	UTRN_ENST00000367526.4_Missense_Mutation_p.D769H	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3214					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TTTTCTCACTGATAGCAGCTC	0.423													C	145149966	G	C	145149966	3	2	635	1	0	0	0	0	1	0	0	0	17205	1290	45	4	9910	4	UTRN	6	145149966	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	12877986	145149966	25965101	37	51583			1	80		2	2	27	G		9.658181e-05
UTRN	7402	broad.mit.edu	37	chr6	145149992	145149992	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctccaccacaggaagtgtGtaagtaaatcatgaaattag	16	9	9	7	0	1	1	1	1	0	0	2	2	2	2	2	1	1	3	2	1	6	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr6:145149992G>C	ENST00000367545.3	+	68	9665		c.e68+1		UTRN_ENST00000367526.4_Splice_Site	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin						muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		CAGGAAGTGTGTAAGTAAATC	0.423													C	145149992	G	C	145149992	5	2	635	1	0	0	0	0	0	0	1	0	17205	1391	48	4	9936	4	UTRN	6	145149992	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	26	145149992	25965075	38	51584			1	80		2	2	27	G		9.658181e-05
FOXK1	221937	broad.mit.edu	37	chr7	4796718	4796718	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggggtccttttggcgaataGaccctgcctctgaagccaag	9	9	12	11	1	1	2	0	1	1	1	2	3	2	2	4	3	2	0	4	3	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:4796718G>C	ENST00000328914.4	+	5	1144	c.1144G>C	c.(1144-1146)Gac>Cac	p.D382H	FOXK1_ENST00000446823.1_Missense_Mutation_p.D219H	NM_001037165.1	NP_001032242.1	P85037	FOXK1_HUMAN	forkhead box K1	382					cell differentiation|embryo development|muscle organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	29		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;7.43e-15)		TTGGCGAATAGACCCTGCCTC	0.572													C	4796718	G	C	4796718	3	2	635	1	0	0	0	0	1	0	0	0	6065	942	33	4	1162	4	FOXK1	7	4796718	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		4796718	154341945	39	51585											
ADCY1	107	broad.mit.edu	37	chr7	45699747	45699747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcttgaaaactcataacatcGaaaccttttttattgtgcca	13	15	4	9	1	2	1	1	1	1	0	3	2	2	1	2	0	4	0	2	0	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:45699747G>A	ENST00000297323.7	+	7	1436	c.1414G>A	c.(1414-1416)Gaa>Aaa	p.E472K	ADCY1_ENST00000432715.1_Missense_Mutation_p.E247K	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	472					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)	TCATAACATCGAAACCTTTTT	0.483													A	45699747	G	A	45699747	3	1	635	1	0	0	0	0	1	0	0	0	292	1059	37	1	1440	1	ADCY1	7	45699747	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40903029	45699747	113438916	40	51586											
ADAM22	53616	broad.mit.edu	37	chr7	87792427	87792427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcttagaacacaggtgtcttCctgtggcttctttcaacttt	7	16	8	10	0	3	1	1	0	2	1	4	1	4	1	1	2	2	2	1	2	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:87792427C>G	ENST00000398204.4	+	23	2331	c.2008C>G	c.(2008-2010)Cct>Gct	p.P670A	ADAM22_ENST00000315984.7_Missense_Mutation_p.P670A|ADAM22_ENST00000398209.3_Missense_Mutation_p.P670A|ADAM22_ENST00000398201.4_Missense_Mutation_p.P670A|ADAM22_ENST00000265727.7_Missense_Mutation_p.P670A	NM_016351.4|NM_021723.3	NP_057435.2|NP_068369.1	Q9P0K1	ADA22_HUMAN	ADAM metallopeptidase domain 22	670	Cys-rich.				cell adhesion|central nervous system development|negative regulation of cell adhesion|proteolysis	integral to membrane	integrin binding|metalloendopeptidase activity|protein binding|receptor activity|zinc ion binding			endometrium(7)|kidney(4)|large_intestine(7)|liver(2)|lung(20)|ovary(6)|prostate(4)|skin(3)	53	Esophageal squamous(14;0.00202)		STAD - Stomach adenocarcinoma(171;0.215)			CAGGTGTCTTCCTGTGGCTTC	0.428													G	87792427	C	G	87792427	3	3	635	1	0	0	0	0	1	0	0	0	244	855	30	4	2098	4	ADAM22	7	87792427	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	42092680	87792427	71346236	41	51587											
COL1A2	1278	broad.mit.edu	37	chr7	94038891	94038891	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catagggtaatcctggagcaAacggccttactggtgccaag	11	8	12	10	1	0	0	0	0	0	0	1	1	1	1	3	4	4	2	3	4	5	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:94038891A>T	ENST00000297268.6	+	18	1378	c.907A>T	c.(907-909)Aac>Tac	p.N303Y		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	303					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCCTGGAGCAAACGGCCTTAC	0.433										HNSCC(75;0.22)			T	94038891	A	T	94038891	3	4	635	1	0	0	0	0	1	0	0	0	3709	14	1	5	977	5	COL1A2	7	94038891	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	6246464	94038891	65099772	42	51588											
CYP3A4	1576	broad.mit.edu	37	chr7	99359851	99359851	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcattcaccaccatgtcaaGatactccatctgtagcacag	12	11	5	13	0	4	1	3	0	1	1	5	1	5	1	3	0	2	2	3	0	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:99359851G>C	ENST00000354593.2	-	6	719	c.616C>G	c.(616-618)Ctt>Gtt	p.L206V	CYP3A4_ENST00000336411.2_Missense_Mutation_p.L356V			P08684	CP3A4_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 4	356					alkaloid catabolic process|androgen metabolic process|exogenous drug catabolic process|heterocycle metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid catabolic process|xenobiotic metabolic process	cell surface|endoplasmic reticulum membrane|integral to membrane|microsome	albendazole monooxygenase activity|caffeine oxidase activity|electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding|quinine 3-monooxygenase activity|steroid binding|taurochenodeoxycholate 6alpha-hydroxylase activity|testosterone 6-beta-hydroxylase activity|vitamin D 24-hydroxylase activity|vitamin D3 25-hydroxylase activity			breast(3)|central_nervous_system(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18	Lung NSC(181;0.0144)|Esophageal squamous(72;0.0166)|all_lung(186;0.0228)				Albendazole(DB00518)|Alclometasone(DB00240)|Alfentanil(DB00802)|Alfuzosin(DB00346)|Aliskiren(DB01258)|Almotriptan(DB00918)|Alosetron(DB00969)|Alprazolam(DB00404)|Amlodipine(DB00381)|Amprenavir(DB00701)|Aprepitant(DB00673)|Aripiprazole(DB01238)|Astemizole(DB00637)|Atazanavir(DB01072)|Atorvastatin(DB01076)|Benazepril(DB00542)|Bepridil(DB01244)|Betamethasone(DB00443)|Bexarotene(DB00307)|Bortezomib(DB00188)|Bosentan(DB00559)|Bromocriptine(DB01200)|Budesonide(DB01222)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Buspirone(DB00490)|Busulfan(DB01008)|Carbamazepine(DB00564)|Cevimeline(DB00185)|Chlorpheniramine(DB01114)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cinacalcet(DB01012)|Cisapride(DB00604)|Clarithromycin(DB01211)|Clindamycin(DB01190)|Clofibrate(DB00636)|Clonazepam(DB01068)|Clopidogrel(DB00758)|Cocaine(DB00907)|Conivaptan(DB00872)|Conjugated Estrogens(DB00286)|Cyproterone(DB04839)|Darifenacin(DB00496)|Darunavir(DB01264)|Dasatinib(DB01254)|Delavirdine(DB00705)|Desogestrel(DB00304)|Dexamethasone(DB01234)|Diazepam(DB00829)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dofetilide(DB00204)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Doxorubicin(DB00997)|Drospirenone(DB01395)|Dutasteride(DB01126)|Efavirenz(DB00625)|Eletriptan(DB00216)|Enalapril(DB00584)|Epirubicin(DB00445)|Eplerenone(DB00700)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Escitalopram(DB01175)|Esomeprazole(DB00736)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethinyl Estradiol(DB00977)|Ethosuximide(DB00593)|Etonogestrel(DB00294)|Etoposide(DB00773)|Etoricoxib(DB01628)|Exemestane(DB00990)|Felodipine(DB01023)|Fentanyl(DB00813)|Fexofenadine(DB00950)|Finasteride(DB01216)|Fluconazole(DB00196)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Fosamprenavir(DB01319)|Fulvestrant(DB00947)|Galantamine(DB00674)|Gefitinib(DB00317)|Gemfibrozil(DB01241)|Granisetron(DB00889)|Grepafloxacin(DB00365)|Halofantrine(DB01218)|Hydrocodone(DB00956)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Hydromorphone(DB00327)|Imatinib(DB00619)|Indinavir(DB00224)|Ipratropium(DB00332)|Irinotecan(DB00762)|Isosorbide Dinitrate(DB00883)|Isosorbide Mononitrate(DB01020)|Isradipine(DB00270)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Lapatinib(DB01259)|Lercanidipine(DB00528)|Letrozole(DB01006)|Levobupivacaine(DB01002)|Levomethadyl Acetate(DB01227)|Levothyroxine(DB00451)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Maraviroc(DB04835)|Marinol(DB00470)|Mebendazole(DB00643)|Medroxyprogesterone(DB00603)|Methadone(DB00333)|Methylprednisolone(DB00959)|Metyrapone(DB01011)|Mibefradil(DB01388)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirtazapine(DB00370)|Modafinil(DB00745)|Mometasone(DB00764)|Montelukast(DB00471)|Nateglinide(DB00731)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Norethindrone(DB00717)|Norgestrel(DB00506)|Nystatin(DB00646)|Ondansetron(DB00904)|Oxybutynin(DB01062)|Paclitaxel(DB01229)|Paliperidone(DB01267)|Palonosetron(DB00377)|Pantoprazole(DB00213)|Paricalcitol(DB00910)|Phenmetrazine(DB00830)|Pimecrolimus(DB00337)|Pimozide(DB01100)|Pioglitazone(DB01132)|Posaconazole(DB01263)|Pranlukast(DB01411)|Prednisolone(DB00860)|Prednisone(DB00635)|Prochlorperazine(DB00433)|Quetiapine(DB01224)|Quinapril(DB00881)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranolazine(DB00243)|Reboxetine(DB00234)|Retapamulin(DB01256)|Rifabutin(DB00615)|Rifampin(DB01045)|Rimonabant(DB06155)|Ritonavir(DB00503)|Rofecoxib(DB00533)|Roxithromycin(DB00778)|Salmeterol(DB00938)|Saquinavir(DB01232)|Sertindole(DB06144)|Sibutramine(DB01105)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|Solifenacin(DB01591)|Sorafenib(DB00398)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tadalafil(DB00820)|Tamoxifen(DB00675)|Telithromycin(DB00976)|Terconazole(DB00251)|Terfenadine(DB00342)|Testosterone(DB00624)|Tiagabine(DB00906)|Ticlopidine(DB00208)|Tinidazole(DB00911)|Tiotropium(DB01409)|Tipranavir(DB00932)|Toremifene(DB00539)|Triazolam(DB00897)|Trimetrexate(DB01157)|Troglitazone(DB00197)|Valdecoxib(DB00580)|Vardenafil(DB00862)|Vinblastine(DB00570)|Vincristine(DB00541)|Vindesine(DB00309)|Vinorelbine(DB00361)|Voriconazole(DB00582)|Zaleplon(DB00962)|Zileuton(DB00744)|Ziprasidone(DB00246)|Zolpidem(DB00425)|Zonisamide(DB00909)	ACCATGTCAAGATACTCCATC	0.398													C	99359851	G	C	99359851	3	2	635	1	0	0	0	0	1	0	0	0	4211	942	33	4	457	4	CYP3A4	7	99359851	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5320960	99359851	59778812	43	51589											
GIGYF1	64599	broad.mit.edu	37	chr7	100281867	100281867	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccccccatacctgctgaCcagctggagaaactgctggt	9	7	11	14	0	0	2	0	1	0	1	0	3	0	2	5	3	5	3	5	3	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:100281867C>G	ENST00000275732.5	-	14	2932	c.1723G>C	c.(1723-1725)Gtc>Ctc	p.V575L		NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	575	Gln-rich.									central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					TACCTGCTGACCAGCTGGAGA	0.657													G	100281867	C	G	100281867	3	3	635	1	0	0	0	0	1	0	0	0	6433	507	18	4	1428	4	GIGYF1	7	100281867	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	922016	100281867	58856796	44	51590											
SLC26A3	1811	broad.mit.edu	37	chr7	107423255	107423255	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttaccttttgtagaggcGccaggagaaatccaatggct	10	11	12	8	1	0	2	0	0	0	2	1	3	1	2	3	3	1	3	3	3	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:107423255G>T	ENST00000340010.5	-	11	1482	c.1298C>A	c.(1297-1299)gCg>gAg	p.A433E	SLC26A3_ENST00000422236.2_Missense_Mutation_p.A398E	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	433					excretion	integral to membrane|membrane fraction	inorganic anion exchanger activity|secondary active sulfate transmembrane transporter activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						TTGTAGAGGCGCCAGGAGAAA	0.413													T	107423255	G	T	107423255	3	4	635	1	0	0	0	0	1	0	0	0	14612	1087	38	4	1040	4	SLC26A3	7	107423255	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	7141388	107423255	51715408	45	51591											
EXOC4	60412	broad.mit.edu	37	chr7	133692502	133692502	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcatcagtgagtctggcatCaagaaaatgtgtaggaacat	14	9	11	7	1	3	2	2	1	1	1	3	3	3	3	0	2	1	3	0	2	5	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:133692502C>G	ENST00000253861.4	+	17	2630	c.2601C>G	c.(2599-2601)atC>atG	p.I867M	EXOC4_ENST00000539845.1_Missense_Mutation_p.I766M|EXOC4_ENST00000541309.1_Missense_Mutation_p.I155M|EXOC4_ENST00000545148.1_Missense_Mutation_p.I477M	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	867					vesicle docking involved in exocytosis	exocyst	protein N-terminus binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				AGTCTGGCATCAAGAAAATGT	0.522													G	133692502	C	G	133692502	3	3	635	1	0	0	0	0	1	0	0	0	5347	816	29	4	2676	4	EXOC4	7	133692502	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26269247	133692502	25446161	46	51592											
TAS2R4	50832	broad.mit.edu	37	chr7	141478741	141478741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgcctgtacatcacgcttagCcaggcatcaccttttcctga	8	12	7	14	1	2	1	2	1	0	0	3	1	3	1	4	1	3	3	4	1	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr7:141478741C>G	ENST00000247881.2	+	1	500	c.453C>G	c.(451-453)agC>agG	p.S151R	SSBP1_ENST00000465582.1_Intron	NM_016944.1	NP_058640.1	Q9NYW5	TA2R4_HUMAN	taste receptor, type 2, member 4	151					sensory perception of taste	cilium membrane	taste receptor activity			endometrium(1)|large_intestine(4)|lung(2)	7	Melanoma(164;0.0171)			BRCA - Breast invasive adenocarcinoma(188;0.196)		TCACGCTTAGCCAGGCATCAC	0.468													G	141478741	C	G	141478741	3	3	635	1	0	0	0	0	1	0	0	0	15674	738	26	4	455	4	TAS2R4	7	141478741	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7786239	141478741	17659922	47	51593											
CDH17	1015	broad.mit.edu	37	chr8	95143113	95143113	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatatctacctggtaaagAaacaatgccttccaagggtg	15	9	9	8	0	1	2	0	0	1	2	2	2	2	2	3	2	3	1	3	2	8	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:95143113A>G	ENST00000027335.3	-	16	2399	c.2275T>C	c.(2275-2277)Tct>Cct	p.S759P	CDH17_ENST00000450165.2_Missense_Mutation_p.S759P|CDH17_ENST00000441892.2_Missense_Mutation_p.S545P	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	759	Cadherin 7.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			CCTGGTAAAGAAACAATGCCT	0.493													G	95143113	A	G	95143113	3	3	635	1	0	0	0	0	1	0	0	0	3132	246	9	3	235	3	CDH17	8	95143113	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		95143113	51220909	48	51594											
VPS13B	157680	broad.mit.edu	37	chr8	100829810	100829810	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcatctgtagttacttgtctCaaagcatagaactaaaagtc	14	13	6	8	0	3	1	2	0	2	1	5	1	3	1	0	0	3	3	0	0	7	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:100829810C>G	ENST00000358544.2	+	45	8326	c.8215C>G	c.(8215-8217)Caa>Gaa	p.Q2739E	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.Q2714E	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2739					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTACTTGTCTCAAAGCATAGA	0.373													G	100829810	C	G	100829810	3	3	635	1	0	0	0	0	1	0	0	0	17292	827	29	4	8583	4	VPS13B	8	100829810	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5686697	100829810	45534212	49	51595											
SCRIB	23513	broad.mit.edu	37	chr8	144895232	144895232	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagctggttccggtcaaGccacagctcccgaagattgg	9	8	12	12	2	1	2	1	1	0	1	3	3	3	2	3	3	3	3	3	3	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr8:144895232G>C	ENST00000356994.2	-	7	616	c.610C>G	c.(610-612)Ctt>Gtt	p.L204V	SCRIB_ENST00000320476.3_Missense_Mutation_p.L204V|SCRIB_ENST00000377533.3_Missense_Mutation_p.L123V	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	204	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			TTCCGGTCAAGCCACAGCTCC	0.627													C	144895232	G	C	144895232	3	2	635	1	0	0	0	0	1	0	0	0	14030	971	34	4	4481	4	SCRIB	8	144895232	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	44065422	144895232	1468790	50	51596											
KIAA1161	57462	broad.mit.edu	37	chr9	34372002	34372002	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaccaaatggggtctcGgaaggcctcgggtgctggca	7	8	17	9	2	1	0	0	0	1	0	3	2	1	2	2	7	1	2	2	7	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34372002G>A	ENST00000297625.7	-	2	1063	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		ATGGGGTCTCGGAAGGCCTCG	0.612													A	34372002	G	A	34372002	4	1	635	1	0	0	0	0	0	1	0	0	8269	1124	39	1	1208	1	KIAA1161	9	34372002	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		34372002	106841429	51	51597											
C9orf24	84688	broad.mit.edu	37	chr9	34381050	34381050	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggccgggcagcgggtccacGcacccgcatcggggcgtgat	5	4	17	15	7	0	1	0	1	0	0	2	1	1	1	3	5	1	3	3	5	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:34381050G>A	ENST00000297623.2	-	5	750	c.552C>T	c.(550-552)tgC>tgT	p.C184C	C9orf24_ENST00000379124.1_Silent_p.C49C|C9orf24_ENST00000379127.1_Silent_p.C49C|C9orf24_ENST00000379133.3_Silent_p.C49C|C9orf24_ENST00000379126.3_Intron	NM_032596.3	NP_115985.2	Q8NCR6	CI024_HUMAN	chromosome 9 open reading frame 24	184										endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.123)		GCGGGTCCACGCACCCGCATC	0.677													A	34381050	G	A	34381050	2	1	635	1	0	0	0	0	0	0	0	1	2501	1079	38	1		1	C9orf24	9	34381050	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	9048	34381050	106832381	52	51598											
COL27A1	85301	broad.mit.edu	37	chr9	116930987	116930987	+	Frame_Shift_Del	DEL	C	C	-																															tcaattgtgcccatcaaaagCccccatcctacccagaaaac																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:116930987delC	ENST00000356083.3	+	3	1543	c.1152delC	c.(1150-1152)agcfs	p.S384fs		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	384	Pro-rich.				cell adhesion		extracellular matrix structural constituent			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						CCATCAAAAGCCCCCATCCTA	0.532													-	116930987	C	-	116930987	7	5	635	1	0	1	0	1	0	0	0	0	3716	738	26	0	1162	0	COL27A1	9	116930987	Frame_Shift_Del	DEL	C	TCGA-P5-A5EV-01A-11D-A27K-08	82549937	116930987	24282444	53	51599											
TNFSF8	944	broad.mit.edu	37	chr9	117666521	117666521	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaaccagggaattggatcAccagattcccatcctgatat	14	9	7	11	0	1	2	1	1	0	1	3	4	3	4	4	2	1	0	4	2	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr9:117666521A>G	ENST00000223795.2	-	4	508	c.395T>C	c.(394-396)gTg>gCg	p.V132A	TNFSF8_ENST00000474301.1_5'UTR	NM_001244.3	NP_001235.1	P32971	TNFL8_HUMAN	tumor necrosis factor (ligand) superfamily, member 8	132					cell proliferation|cell-cell signaling|immune response|induction of apoptosis|signal transduction	extracellular space|integral to plasma membrane	cytokine activity|tumor necrosis factor receptor binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|skin(3)|urinary_tract(1)	12						GAATTGGATCACCAGATTCCC	0.408													G	117666521	A	G	117666521	3	3	635	1	0	0	0	0	1	0	0	0	16411	159	6	3	313	3	TNFSF8	9	117666521	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	735534	117666521	23546910	54	51600											
PFKFB3	5209	broad.mit.edu	37	chr10	6257194	6257194	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ccgtccacagtgttcaacgtCggggagtatcgccgggaggc	7	7	15	12	5	1	0	1	0	0	0	4	2	2	2	3	4	1	2	3	4	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:6257194C>G	ENST00000379775.4	+	3	543	c.213C>G	c.(211-213)gtC>gtG	p.V71V	PFKFB3_ENST00000379789.4_Silent_p.V51V|PFKFB3_ENST00000379782.3_Silent_p.V71V|PFKFB3_ENST00000379785.1_Silent_p.V71V|PFKFB3_ENST00000540253.1_Silent_p.V85V|PFKFB3_ENST00000360521.2_Silent_p.V71V|PFKFB3_ENST00000536985.1_Silent_p.V51V|PFKFB3_ENST00000317350.4_Silent_p.V71V	NM_004566.3	NP_004557.1	Q16875	F263_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3	71	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity|identical protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(1)|liver(2)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)	22						TGTTCAACGTCGGGGAGTATC	0.577													G	6257194	C	G	6257194	2	3	635	1	0	0	0	0	0	0	0	1	11839	871	31	4		4	PFKFB3	10	6257194	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6257194	129277553	55	51601											
ANXA7	310	broad.mit.edu	37	chr10	75148122	75148122	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatctcttatagcatcgaaGttggcagctggtcggatagt	9	12	12	8	2	1	0	0	0	1	0	4	2	1	1	0	3	2	5	0	3	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:75148122G>C	ENST00000372921.5	-	6	542	c.486C>G	c.(484-486)aaC>aaG	p.N162K	ANXA7_ENST00000535178.1_Missense_Mutation_p.N32K|ANXA7_ENST00000492380.1_5'UTR	NM_001156.3	NP_001147.1	P20073	ANXA7_HUMAN	annexin A7								calcium ion binding|calcium-dependent phospholipid binding|calcium-dependent protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	26	Prostate(51;0.0119)					TAGCATCGAAGTTGGCAGCTG	0.378													C	75148122	G	C	75148122	3	2	635	1	0	0	0	0	1	0	0	0	723	1020	36	4	946	4	ANXA7	10	75148122	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	68890928	75148122	60386625	56	51602											
DLG5	9231	broad.mit.edu	37	chr10	79589994	79589994	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttaagcggccatcagcaaTgcttcctttgtccactttag	8	13	7	13	1	1	0	1	0	0	0	3	0	3	0	4	1	3	2	4	1	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:79589994T>A	ENST00000372391.2	-	11	1995	c.1990A>T	c.(1990-1992)Att>Ttt	p.I664F	DLG5_ENST00000372388.2_Missense_Mutation_p.I664F	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	664	PDZ 1.				cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CCATCAGCAATGCTTCCTTTG	0.542													A	79589994	T	A	79589994	3	1	635	1	0	0	0	0	1	0	0	0	4597	1464	51	5	3857	5	DLG5	10	79589994	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	4441872	79589994	55944753	57	51603											
GHITM	27069	broad.mit.edu	37	chr10	85901358	85901358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgaagaattccatcacgaaGaatcaatggctgttaacacc	15	9	8	9	1	2	3	2	1	0	2	3	4	3	3	2	1	1	2	2	1	6	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr10:85901358G>C	ENST00000372134.3	+	2	295	c.102G>C	c.(100-102)aaG>aaC	p.K34N		NM_014394.2	NP_055209.2	Q9H3K2	GHITM_HUMAN	growth hormone inducible transmembrane protein	34					apoptosis	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(2)	10						CCATCACGAAGAATCAATGGC	0.448													C	85901358	G	C	85901358	3	2	635	1	0	0	0	0	1	0	0	0	6426	933	33	4	104	4	GHITM	10	85901358	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6311364	85901358	49633389	58	51604											
CD151	977	broad.mit.edu	37	chr11	837606	837606	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgagaccatgcctccaacatCtacaaggtggaggtgggtgt	10	8	13	10	1	1	1	0	0	1	1	2	3	2	2	3	4	3	0	3	4	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:837606C>G	ENST00000397420.3	+	7	852	c.603C>G	c.(601-603)atC>atG	p.I201M	CD151_ENST00000322008.4_Missense_Mutation_p.I201M|CD151_ENST00000397421.1_Missense_Mutation_p.I201M|CD151_ENST00000528011.1_Missense_Mutation_p.I201M			P48509	CD151_HUMAN	CD151 molecule (Raph blood group)	201					cell adhesion|hemidesmosome assembly	cytosol|integral to plasma membrane|membrane fraction	protein binding			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.54e-25)|Epithelial(43;1.22e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.91e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCTCCAACATCTACAAGGTGG	0.642													G	837606	C	G	837606	3	3	635	1	0	0	0	0	1	0	0	0	2995	903	32	4	621	4	CD151	11	837606	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		837606	134168910	59	51605											
MUC5B	727897	broad.mit.edu	37	chr11	1265832	1265832	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tcctccactccagagactgtCcacacctccacagtgcttac	9	9	5	18	0	0	1	0	0	0	1	5	2	5	1	6	0	2	1	6	0	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:1265832C>G	ENST00000447027.1	+	31	7789	c.7731C>G	c.(7729-7731)gtC>gtG	p.V2577V	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.V2574V			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2574	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CAGAGACTGTCCACACCTCCA	0.652													G	1265832	C	G	1265832	2	3	635	1	0	0	0	0	0	0	0	1	10055	842	30	4		4	MUC5B	11	1265832	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	428226	1265832	133740684	60	51606											
LGR4	55366	broad.mit.edu	37	chr11	27389533	27389533	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actgtctgagacaaaggaatCttcttcatctgcataatcag	13	12	7	9	0	6	1	2	1	4	1	6	3	6	2	0	1	1	1	0	1	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:27389533C>G	ENST00000379214.4	-	18	3180	c.2737G>C	c.(2737-2739)Gat>Cat	p.D913H	LGR4_ENST00000389858.4_Missense_Mutation_p.D889H	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	913						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						ACAAAGGAATCTTCTTCATCT	0.532													G	27389533	C	G	27389533	3	3	635	1	0	0	0	0	1	0	0	0	8816	913	32	4	122	4	LGR4	11	27389533	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26123701	27389533	107616983	61	51607											
PTPMT1	114971	broad.mit.edu	37	chr11	47587461	47587461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctctttgcctcggcagctgGtacaggacgagaacgtgcgc	7	8	13	13	4	1	1	0	0	1	1	2	3	1	2	2	3	5	3	2	3	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:47587461G>C	ENST00000534775.1	+	1	452	c.287G>C	c.(286-288)gGt>gCt	p.G96A	PTPMT1_ENST00000426530.2_Missense_Mutation_p.G96A|NDUFS3_ENST00000533507.1_3'UTR|PTPMT1_ENST00000527079.2_3'UTR|PTPMT1_ENST00000326674.9_Missense_Mutation_p.V60L|PTPMT1_ENST00000326656.8_Missense_Mutation_p.V60L			Q8WUK0	PTPM1_HUMAN	protein tyrosine phosphatase, mitochondrial 1	0					inositol phosphate dephosphorylation	mitochondrial inner membrane	phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	6						TCGGCAGCTGGTACAGGACGA	0.682													C	47587461	G	C	47587461	3	2	635	1	0	0	0	0	1	0	0	0	12864	1261	44	4	289	4	PTPMT1	11	47587461	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	20197928	47587461	87419055	62	51608											
OR5I1	10798	broad.mit.edu	37	chr11	55703522	55703522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcgatcataggccatggCggccaggatgaaggattctg	11	8	14	8	2	2	1	1	1	1	0	2	4	2	3	2	5	1	0	2	5	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:55703522C>T	ENST00000301532.3	-	1	354	c.355G>A	c.(355-357)Gcc>Acc	p.A119T		NM_006637.1	NP_006628.1	Q13606	OR5I1_HUMAN	olfactory receptor, family 5, subfamily I, member 1	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A119T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(34)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TAGGCCATGGCGGCCAGGATG	0.433													T	55703522	C	T	55703522	3	4	635	1	0	0	0	0	1	0	0	0	11240	768	27	1	592	1	OR5I1	11	55703522	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8116061	55703522	79302994	63	51609											
MS4A4A	51338	broad.mit.edu	37	chr11	60068530	60068530	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attagaactacaaaaggcctGgtgagtaatattttcttttt	13	16	7	5	0	1	2	0	1	1	1	1	2	1	2	1	2	2	1	1	2	7	8			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:60068530G>C	ENST00000355131.3	+	5	553	c.330G>C	c.(328-330)ctG>ctC	p.L110L	MS4A4A_ENST00000337908.4_Splice_Site_p.L129L|MS4A4A_ENST00000395016.3_Splice_Site_p.L110L|MS4A4A_ENST00000532114.1_Splice_Site_p.L129L	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	129						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CAAAAGGCCTGGTGAGTAATA	0.299													C	60068530	G	C	60068530	5	2	635	1	0	0	0	0	0	0	1	0	9938	1362	47	4	401	4	MS4A4A	11	60068530	Splice_Site	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	4365008	60068530	74937986	64	51610											
NAA40	79829	broad.mit.edu	37	chr11	63721927	63721927	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcactcccacgcgggtggGcactgtggtggctgctgcca	5	8	14	14	2	1	0	1	0	0	0	2	0	2	0	2	4	2	3	2	4	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:63721927G>C	ENST00000377793.4	+	8	791	c.690G>C	c.(688-690)ggG>ggC	p.G230G	NAA40_ENST00000539656.1_Silent_p.G117G|NAA40_ENST00000456907.2_Silent_p.G190G|NAA40_ENST00000542163.1_Silent_p.G209G	NM_024771.2	NP_079047.2	Q86UY6	NAA40_HUMAN	N(alpha)-acetyltransferase 40, NatD catalytic subunit	230							N-acetyltransferase activity			NS(1)|endometrium(1)|lung(2)|prostate(1)	5						ACGCGGGTGGGCACTGTGGTG	0.582													C	63721927	G	C	63721927	2	2	635	1	0	0	0	0	0	0	0	1	10201	1190	42	4		4	NAA40	11	63721927	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	3653397	63721927	71284589	65	51611											
DDI1	414301	broad.mit.edu	37	chr11	103908169	103908169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctacacagccgacccactgGatcgggaagctcaggccaaa	12	5	10	14	2	2	0	1	0	1	0	3	3	2	2	3	3	3	1	3	3	3	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr11:103908169G>C	ENST00000302259.3	+	1	862	c.619G>C	c.(619-621)Gat>Cat	p.D207H	PDGFD_ENST00000393158.2_Intron|PDGFD_ENST00000302251.5_Intron	NM_001001711.2	NP_001001711.1	Q8WTU0	DDI1_HUMAN	DNA-damage inducible 1 homolog 1 (S. cerevisiae)	207					proteolysis		aspartic-type endopeptidase activity			central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(12)|liver(2)|lung(21)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.00648)|Melanoma(852;0.055)|all_neural(303;0.164)		BRCA - Breast invasive adenocarcinoma(274;0.00128)|Epithelial(105;0.0631)|all cancers(92;0.169)		CGACCCACTGGATCGGGAAGC	0.502													C	103908169	G	C	103908169	3	2	635	1	0	0	0	0	1	0	0	0	4362	1174	41	4	621	4	DDI1	11	103908169	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	40186242	103908169	31098347	66	51612											
PHB2	11331	broad.mit.edu	37	chr12	7077734	7077734	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcgagacaacactcgcAgggagatattcaccatctgt	11	9	11	10	2	2	2	1	0	1	2	4	4	2	2	1	2	1	1	1	2	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7077734A>T	ENST00000535923.1	-	4	598	c.317T>A	c.(316-318)cTg>cAg	p.L106Q	PHB2_ENST00000440277.1_Missense_Mutation_p.L106Q|PHB2_ENST00000399433.2_Missense_Mutation_p.L106Q|PHB2_ENST00000542912.1_Missense_Mutation_p.L106Q|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000544134.1_5'UTR	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	106					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CAACACTCGCAGGGAGATATT	0.532													T	7077734	A	T	7077734	3	4	635	1	0	0	0	0	1	0	0	0	11892	188	7	5	606	5	PHB2	12	7077734	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08		7077734	126774161	67	51613											
CD163L1	283316	broad.mit.edu	37	chr12	7526162	7526162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgacgctgccccaggtccCgttatagaagacttccaatc	9	8	9	15	3	0	2	0	0	0	2	3	3	2	2	5	1	1	2	5	1	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:7526162C>T	ENST00000313599.3	-	14	3541	c.3484G>A	c.(3484-3486)Ggg>Agg	p.G1162R	CD163L1_ENST00000416109.2_Missense_Mutation_p.G1172R|CD163L1_ENST00000396630.1_Missense_Mutation_p.G1162R			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1162	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCCAGGTCCCGTTATAGAAG	0.517													T	7526162	C	T	7526162	3	4	635	1	0	0	0	0	1	0	0	0	2998	652	23	1	901	1	CD163L1	12	7526162	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	448428	7526162	126325733	68	51614											
HEBP1	50865	broad.mit.edu	37	chr12	13128274	13128274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagatctcattgcgccGtccgtagggcttcatgggag	7	9	13	12	3	2	1	2	0	1	1	4	2	3	2	3	2	2	2	3	2	1	3	rs76698360	by1000genomes	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:13128274G>A	ENST00000014930.4	-	4	696	c.538C>T	c.(538-540)Cgg>Tgg	p.R180W	RP11-392P7.6_ENST00000545914.1_RNA|HEBP1_ENST00000540916.1_5'UTR|RP11-392P7.6_ENST00000543515.2_RNA|RP11-392P7.6_ENST00000542078.1_RNA|RP11-392P7.6_ENST00000536029.1_RNA	NM_015987.4	NP_057071.2	Q9NRV9	HEBP1_HUMAN	heme binding protein 1	180					circadian rhythm	extracellular region				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|urinary_tract(1)	7		Prostate(47;0.183)		BRCA - Breast invasive adenocarcinoma(232;0.153)		TCATTGCGCCGTCCGTAGGGC	0.587													A	13128274	G	A	13128274	3	1	635	1	0	0	0	0	1	0	0	0	7091	1144	40	1	35	1	HEBP1	12	13128274	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5602112	13128274	120723621	69	51615											
CCDC91	55297	broad.mit.edu	37	chr12	28544295	28544295	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tattgaaaaacagtacatttCtgcaattgagaaacaggcac	17	10	7	7	0	1	2	0	2	1	1	1	3	1	2	0	1	4	3	0	1	6	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:28544295C>G	ENST00000545336.1	+	11	1132	c.713C>G	c.(712-714)tCt>tGt	p.S238C	CCDC91_ENST00000539107.1_Intron|CCDC91_ENST00000381259.1_Missense_Mutation_p.S238C|CCDC91_ENST00000381256.1_Intron|CCDC91_ENST00000306172.5_Missense_Mutation_p.S208C|CCDC91_ENST00000540401.1_3'UTR			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	238	Homodimerization.				protein transport	Golgi apparatus|membrane		p.S238F(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					CAGTACATTTCTGCAATTGAG	0.368													G	28544295	C	G	28544295	3	3	635	1	0	0	0	0	1	0	0	0	2898	913	32	4	739	4	CCDC91	12	28544295	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	15416021	28544295	105307600	70	51616											
SYT10	341359	broad.mit.edu	37	chr12	33529816	33529816	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggatccttgactatcaaaActggtcgcccggccaggtaa	11	8	10	12	2	1	1	1	1	0	0	3	2	2	2	3	4	1	1	3	4	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:33529816A>G	ENST00000228567.3	-	7	1817	c.1521T>C	c.(1519-1521)agT>agC	p.S507S	SYT10_ENST00000535526.1_Silent_p.S326S	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	507						cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					GACTATCAAAACTGGTCGCCC	0.413													G	33529816	A	G	33529816	2	3	635	1	0	0	0	0	0	0	0	1	15563	40	2	3		3	SYT10	12	33529816	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	4985521	33529816	100322079	71	51617											
MYF5	4617	broad.mit.edu	37	chr12	81111280	81111280	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagcaggtggagaactactaTagcctgccgggacagagctg	11	6	15	9	1	0	2	0	0	0	2	0	5	0	3	2	3	6	2	2	3	4	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:81111280T>C	ENST00000228644.3	+	1	590	c.438T>C	c.(436-438)taT>taC	p.Y146Y		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	146					muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						AGAACTACTATAGCCTGCCGG	0.577													C	81111280	T	C	81111280	2	2	635	1	0	0	0	0	0	0	0	1	10103	1413	49	3		3	MYF5	12	81111280	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	47581464	81111280	52740615	72	51618											
TMTC2	160335	broad.mit.edu	37	chr12	83289967	83289967	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaatgcaatgggaaaactgTaacaaatggcaagcagaatg	19	6	11	5	0	0	2	0	0	0	2	0	3	0	3	0	2	4	4	0	2	8	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:83289967T>C	ENST00000549919.1	+	4	2812	c.1007T>C	c.(1006-1008)gTa>gCa	p.V336A	TMTC2_ENST00000321196.3_Missense_Mutation_p.V342A|TMTC2_ENST00000548305.1_Missense_Mutation_p.V342A			Q8N394	TMTC2_HUMAN	transmembrane and tetratricopeptide repeat containing 2	342						endoplasmic reticulum|integral to membrane	binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(7)|lung(13)|ovary(2)|skin(1)|urinary_tract(1)	39						GGGAAAACTGTAACAAATGGC	0.448													C	83289967	T	C	83289967	3	2	635	1	0	0	0	0	1	0	0	0	16361	1638	57	3	1035	3	TMTC2	12	83289967	Missense_Mutation	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	2178687	83289967	50561928	73	51619											
CUX2	23316	broad.mit.edu	37	chr12	111786107	111786107	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgggctgccaatcgggaggAggccctggagtgggagttct	6	7	19	9	2	1	0	0	0	1	0	2	4	1	4	2	6	1	2	2	6	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:111786107A>T	ENST00000261726.6	+	22	4593	c.4439A>T	c.(4438-4440)gAg>gTg	p.E1480V		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	1480						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AATCGGGAGGAGGCCCTGGAG	0.572													T	111786107	A	T	111786107	3	4	635	1	0	0	0	0	1	0	0	0	4098	304	11	5	4525	5	CUX2	12	111786107	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	28496140	111786107	22065788	74	51620											
PLBD2	196463	broad.mit.edu	37	chr12	113824841	113824841	+	Silent	SNP	C	C	T																															agcccccgggcccagatcttCcggcggaaccagtcactggt																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824841C>T	ENST00000280800.3	+	10	1417	c.1386C>T	c.(1384-1386)ttC>ttT	p.F462F	PLBD2_ENST00000545182.2_Silent_p.F430F	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	462					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCCAGATCTTCCGGCGGAACC	0.607													T	113824841	C	T	113824841	2	4	635	1	0	0	0	0	0	0	0	1	12103	854	30	2		2	PLBD2	12	113824841	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2038734	113824841	20027054	75	51621	166	3									
PLBD2	196463	broad.mit.edu	37	chr12	113824842	113824842	+	Missense_Mutation	SNP	C	C	T																															gcccccgggcccagatcttcCggcggaaccagtcactggta																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824842C>T	ENST00000280800.3	+	10	1418	c.1387C>T	c.(1387-1389)Cgg>Tgg	p.R463W	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431W	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity	p.R463R(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CCAGATCTTCCGGCGGAACCA	0.607													T	113824842	C	T	113824842	3	4	635	1	0	0	0	0	1	0	0	0	12103	643	23	1	1425	1	PLBD2	12	113824842	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824842	20027053	76	51622	166	3									
PLBD2	196463	broad.mit.edu	37	chr12	113824843	113824843	+	Missense_Mutation	SNP	G	G	T																															cccccgggcccagatcttccGgcggaaccagtcactggtac																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr12:113824843G>T	ENST00000280800.3	+	10	1419	c.1388G>T	c.(1387-1389)cGg>cTg	p.R463L	PLBD2_ENST00000545182.2_Missense_Mutation_p.R431L	NM_173542.3	NP_775813.2	Q8NHP8	PLBL2_HUMAN	phospholipase B domain containing 2	463					lipid catabolic process	lysosomal lumen	hydrolase activity			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CAGATCTTCCGGCGGAACCAG	0.602													T	113824843	G	T	113824843	3	4	635	1	0	0	0	0	1	0	0	0	12103	1116	39	4	1426	4	PLBD2	12	113824843	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	1	113824843	20027052	77	51623	166	3									
ATP12A	479	broad.mit.edu	37	chr13	25268628	25268628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactgctcttttaaaattctCagaggtcattttgggtgatg	10	16	9	6	0	3	2	2	1	2	1	4	2	3	2	0	2	2	1	0	2	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:25268628C>T	ENST00000218548.6	+	11	1775	c.1442C>T	c.(1441-1443)tCa>tTa	p.S481L	ATP12A_ENST00000381946.3_Missense_Mutation_p.S475L	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	475					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	TTAAAATTCTCAGAGGTCATT	0.353											OREG0022298	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	25268628	C	T	25268628	3	4	635	1	0	0	0	0	1	0	0	0	1127	838	29	2	1484	2	ATP12A	13	25268628	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		25268628	89901250	78	51624											
LNX2	222484	broad.mit.edu	37	chr13	28155696	28155696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaaggcaaatatggcagaCtaggtcatcatccacttcat	13	11	8	9	0	3	2	3	1	0	1	4	2	4	2	1	3	0	2	1	3	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:28155696C>G	ENST00000316334.3	-	2	274	c.145G>C	c.(145-147)Gtc>Ctc	p.V49L		NM_153371.3	NP_699202.1	Q8N448	LNX2_HUMAN	ligand of numb-protein X 2	49							zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	31		Lung SC(185;0.0156)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.113)|all cancers(112;0.127)|Epithelial(112;0.248)		ATATGGCAGACTAGGTCATCA	0.443													G	28155696	C	G	28155696	3	3	635	1	0	0	0	0	1	0	0	0	8927	565	20	4	1963	4	LNX2	13	28155696	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	2887068	28155696	87014182	79	51625											
KL	9365	broad.mit.edu	37	chr13	33591133	33591133	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggctgcgggagctgggcgtGcagcccgtggtcaccctgta	4	7	17	13	4	1	0	1	0	0	0	1	1	1	1	2	4	4	4	2	4	1	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:33591133G>C	ENST00000380099.3	+	1	563	c.555G>C	c.(553-555)gtG>gtC	p.V185V	KL_ENST00000487852.1_3'UTR|KL_ENST00000426690.2_Intron	NM_004795.3	NP_004786.2	Q9UEF7	KLOT_HUMAN	klotho	185	Glycosyl hydrolase-1 1.				aging|carbohydrate metabolic process|insulin receptor signaling pathway|positive regulation of bone mineralization	extracellular space|integral to membrane|integral to plasma membrane|membrane fraction|soluble fraction	beta-glucosidase activity|beta-glucuronidase activity|cation binding|fibroblast growth factor binding|hormone activity|signal transducer activity|vitamin D binding			breast(2)|endometrium(5)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|skin(5)	41	all_epithelial(80;0.133)	Ovarian(182;1.78e-06)|Breast(139;4.08e-05)|Hepatocellular(188;0.00886)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;7.13e-230)|all cancers(112;1.33e-165)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-113)|Epithelial(112;3.79e-112)|Lung(94;8.52e-27)|LUSC - Lung squamous cell carcinoma(192;1.4e-13)|Kidney(163;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(186;5.63e-08)|BRCA - Breast invasive adenocarcinoma(63;1.41e-05)		AGCTGGGCGTGCAGCCCGTGG	0.736													C	33591133	G	C	33591133	2	2	635	1	0	0	0	0	0	0	0	1	8389	1306	46	4		4	KL	13	33591133	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5435437	33591133	81578745	80	51626											
FARP1	10160	broad.mit.edu	37	chr13	99098434	99098434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggtgttcacaaacttctGcctgttcttctacaaatcac	9	14	7	11	0	5	0	2	0	3	0	5	0	5	0	1	2	3	2	1	2	3	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:99098434G>C	ENST00000376586.2	+	26	3308	c.2972G>C	c.(2971-2973)tGc>tCc	p.C991S	FARP1_ENST00000595437.1_Missense_Mutation_p.C991S|FARP1_ENST00000319562.6_Missense_Mutation_p.C960S			Q9Y4F1	FARP1_HUMAN	FERM, RhoGEF (ARHGEF) and pleckstrin domain protein 1 (chondrocyte-derived)	960	PH 2.				regulation of Rho protein signal transduction	cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding|Rho guanyl-nucleotide exchange factor activity			breast(3)|endometrium(6)|kidney(6)|large_intestine(13)|lung(16)|ovary(1)|skin(3)|urinary_tract(1)	49	all_neural(89;0.0982)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)		BRCA - Breast invasive adenocarcinoma(86;0.233)			ACAAACTTCTGCCTGTTCTTC	0.562											OREG0022474	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	99098434	G	C	99098434	3	2	635	1	0	0	0	0	1	0	0	0	5725	1319	46	4	3196	4	FARP1	13	99098434	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	65507301	99098434	16071444	81	51627											
LIG4	3981	broad.mit.edu	37	chr13	108861247	108861247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaatcagagaagccatttcTtcaggagtctgctcgttaga	11	11	10	9	1	4	2	2	0	2	2	5	4	4	3	1	1	2	3	1	1	3	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr13:108861247T>C	ENST00000356922.4	-	2	2642	c.2370A>G	c.(2368-2370)gaA>gaG	p.E790E	LIG4_ENST00000442234.1_Silent_p.E790E|LIG4_ENST00000405925.1_Silent_p.E790E	NM_002312.3|NM_206937.1	NP_002303.2|NP_996820.1	P49917	DNLI4_HUMAN	ligase IV, DNA, ATP-dependent	790					cell cycle|cell division|cell proliferation|central nervous system development|chromosome organization|DNA ligation involved in DNA recombination|DNA ligation involved in DNA repair|DNA replication|double-strand break repair via nonhomologous end joining|in utero embryonic development|initiation of viral infection|isotype switching|negative regulation of neuron apoptosis|neuron apoptosis|nucleotide-excision repair, DNA gap filling|positive regulation of fibroblast proliferation|positive regulation of neurogenesis|pro-B cell differentiation|provirus integration|response to gamma radiation|response to X-ray|single strand break repair|somatic stem cell maintenance|T cell differentiation in thymus|T cell receptor V(D)J recombination	condensed chromosome|cytoplasm|DNA ligase IV complex|DNA-dependent protein kinase-DNA ligase 4 complex|focal adhesion|nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|metal ion binding|protein C-terminus binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					AAGCCATTTCTTCAGGAGTCT	0.388								Non-homologous end-joining					C	108861247	T	C	108861247	2	2	635	1	0	0	0	0	0	0	0	1	8843	1606	56	3		3	LIG4	13	108861247	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	9762813	108861247	6308631	82	51628											
HECTD1	25831	broad.mit.edu	37	chr14	31582665	31582665	+	Missense_Mutation	SNP	G	G	C																															tggccccctggtttaacccaGactttgttccatgctcacaa																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582665G>C	ENST00000399332.1	-	33	6370	c.5882C>G	c.(5881-5883)tCt>tGt	p.S1961C	HECTD1_ENST00000553700.1_Missense_Mutation_p.S1961C	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1961					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		GTTTAACCCAGACTTTGTTCC	0.363													C	31582665	G	C	31582665	3	2	635	1	0	0	0	0	1	0	0	0	7094	942	33	4	1994	4	HECTD1	14	31582665	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		31582665	75766875	83	51629	167	2									
HECTD1	25831	broad.mit.edu	37	chr14	31582671	31582671	+	Missense_Mutation	SNP	G	G	C																															cctggtttaacccagactttGttccatgctcacaaaaatcc																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:31582671G>C	ENST00000399332.1	-	33	6364	c.5876C>G	c.(5875-5877)aCa>aGa	p.T1959R	HECTD1_ENST00000553700.1_Missense_Mutation_p.T1959R	NM_015382.2	NP_056197.2	Q9ULT8	HECD1_HUMAN	HECT domain containing E3 ubiquitin protein ligase 1	1959					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	metal ion binding|protein binding|ubiquitin-protein ligase activity			breast(10)|endometrium(7)|kidney(5)|large_intestine(12)|lung(23)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	70	Hepatocellular(127;0.0877)|Breast(36;0.176)		LUAD - Lung adenocarcinoma(48;0.00292)|Lung(238;0.0164)|BRCA - Breast invasive adenocarcinoma(188;0.111)|STAD - Stomach adenocarcinoma(7;0.173)	GBM - Glioblastoma multiforme(265;0.00617)		CCCAGACTTTGTTCCATGCTC	0.358													C	31582671	G	C	31582671	3	2	635	1	0	0	0	0	1	0	0	0	7094	1377	48	4	2000	4	HECTD1	14	31582671	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	6	31582671	75766869	84	51630	167	2									
TECPR2	9895	broad.mit.edu	37	chr14	102891386	102891386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaaccttgtatgcgtcaCggcccgggctccggctatgg	6	10	12	13	4	2	0	1	0	1	0	3	0	3	0	3	4	2	3	3	4	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr14:102891386C>T	ENST00000359520.7	+	6	935	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	TECPR2_ENST00000561228.1_3'UTR|TECPR2_ENST00000558678.1_Missense_Mutation_p.R237W	NM_014844.3	NP_055659.2	O15040	TCPR2_HUMAN	tectonin beta-propeller repeat containing 2	237							protein binding			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(21)|ovary(2)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	50						GTATGCGTCACGGCCCGGGCT	0.448													T	102891386	C	T	102891386	3	4	635	1	0	0	0	0	1	0	0	0	15844	527	19	1	727	1	TECPR2	14	102891386	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	71308715	102891386	4458154	85	51631											
ATP10A	57194	broad.mit.edu	37	chr15	25940187	25940187	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acgtggagggtgggcagagaGaggagaacctcatgctcact	11	6	16	8	1	2	3	2	0	0	3	2	6	2	4	1	4	2	2	1	4	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:25940187G>C	ENST00000356865.6	-	14	2978	c.2867C>G	c.(2866-2868)tCt>tGt	p.S956C		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	956					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TGGGCAGAGAGAGGAGAACCT	0.607													C	25940187	G	C	25940187	3	2	635	1	0	0	0	0	1	0	0	0	1121	942	33	4	1664	4	ATP10A	15	25940187	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		25940187	76591205	86	51632											
GCOM1	145781	broad.mit.edu	37	chr15	57976627	57976627	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcaggactcgtgaaattgtGatgccttctaggaactacac	11	10	11	9	1	1	2	0	2	1	0	2	4	1	4	1	3	3	1	1	3	4	4	rs148332683		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:57976627G>C	ENST00000574161.1	+	13	1451	c.1332G>C	c.(1330-1332)gtG>gtC	p.V444V	GCOM1_ENST00000484300.1_3'UTR|MYZAP_ENST00000380565.4_Silent_p.V416V|GCOM1_ENST00000380560.2_Silent_p.V375V|GCOM1_ENST00000396180.1_Silent_p.V413V|GCOM1_ENST00000572390.1_Silent_p.V416V|GCOM1_ENST00000380568.3_Intron|GCOM1_ENST00000380561.2_Intron|MYZAP_ENST00000267853.5_Silent_p.V444V|GCOM1_ENST00000380569.2_Intron|GCOM1_ENST00000587652.1_Intron|POLR2M_ENST00000380563.2_5'UTR	NM_001018100.3	NP_001018110.1	P0CAP1	GCOM1_HUMAN		444					intracellular signal transduction	extrinsic to internal side of plasma membrane|I band				endometrium(1)|kidney(2)|large_intestine(9)|liver(1)|lung(1)|ovary(1)|skin(2)|stomach(1)	18						GTGAAATTGTGATGCCTTCTA	0.433													C	57976627	G	C	57976627	2	2	635	1	0	0	0	0	0	0	0	1	6359	1277	45	4		4	GCOM1	15	57976627	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	32036440	57976627	44554765	87	51633											
PDCD7	10081	broad.mit.edu	37	chr15	65425278	65425278	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctccacctcctgcacaCacttcaccctccagcggtca	7	9	4	21	1	3	0	2	0	1	0	7	0	6	0	6	1	2	1	6	1	0	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:65425278C>G	ENST00000204549.4	-	1	896	c.842G>C	c.(841-843)tGt>tCt	p.C281S		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	281					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						CTCCTGCACACACTTCACCCT	0.667													G	65425278	C	G	65425278	3	3	635	1	0	0	0	0	1	0	0	0	11701	478	17	4	635	4	PDCD7	15	65425278	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	7448651	65425278	37106114	88	51634											
ARID3B	10620	broad.mit.edu	37	chr15	74888092	74888092	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggcacccccagcgcagagCcctccaccagctggtccctc	6	4	11	20	1	0	1	0	0	0	1	3	1	2	1	6	3	3	3	6	3	0	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:74888092C>G	ENST00000346246.5	+	9	1891	c.1660C>G	c.(1660-1662)Ccc>Gcc	p.P554A		NM_006465.2	NP_006456.1	Q8IVW6	ARI3B_HUMAN	AT rich interactive domain 3B (BRIGHT-like)	555	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(7)|prostate(2)	14						CAGCGCAGAGCCCTCCACCAG	0.617													G	74888092	C	G	74888092	3	3	635	1	0	0	0	0	1	0	0	0	920	739	26	4	1690	4	ARID3B	15	74888092	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	9462814	74888092	27643300	89	51635											
CHSY1	22856	broad.mit.edu	37	chr15	101718744	101718744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcgccctctggtcttggCgttggcattgatcatctcca	5	13	11	12	2	4	1	1	1	3	0	5	2	4	1	2	3	1	2	2	3	0	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr15:101718744C>T	ENST00000254190.3	-	3	1733	c.1258G>A	c.(1258-1260)Gcc>Acc	p.A420T	CHSY1_ENST00000543813.1_5'UTR	NM_014918.4	NP_055733.2	Q86X52	CHSS1_HUMAN	chondroitin sulfate synthase 1	420					chondroitin sulfate biosynthetic process	Golgi cisterna membrane|integral to membrane	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(5)|skin(1)	24	Lung NSC(78;0.00217)|all_lung(78;0.00271)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTGGTCTTGGCGTTGGCATTG	0.577													T	101718744	C	T	101718744	3	4	635	1	0	0	0	0	1	0	0	0	3442	768	27	1	1154	1	CHSY1	15	101718744	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26830652	101718744	812648	90	51636											
C16orf11	146325	broad.mit.edu	37	chr16	615104	615104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccgagccacccggcatgctgGgccctgcagcgccccaaccc	6	3	11	21	3	0	0	0	0	0	0	0	1	0	0	7	2	5	3	7	2	1	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:615104G>C	ENST00000409413.3	+	3	1792	c.1513G>C	c.(1513-1515)Ggc>Cgc	p.G505R		NM_145270.2	NP_660313.1	P0CG20	CP011_HUMAN	chromosome 16 open reading frame 11	505										central_nervous_system(1)|endometrium(1)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	10						CGGCATGCTGGGCCCTGCAGC	0.741													C	615104	G	C	615104	3	2	635	1	0	0	0	0	1	0	0	0	1824	1232	43	4	1519	4	C16orf11	16	615104	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		615104	89739649	91	51637											
TSC2	7249	broad.mit.edu	37	chr16	2138115	2138115	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccgcaacctgcccttcgtggCccgccagatggccctgcacg	5	6	11	19	4	0	1	0	0	0	1	1	1	0	1	6	2	3	2	6	2	1	1	rs137854136		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:2138115C>G	ENST00000219476.3	+	40	5765	c.5135C>G	c.(5134-5136)gCc>gGc	p.A1712G	TSC2_ENST00000568454.1_Missense_Mutation_p.A1656G|TSC2_ENST00000382538.6_Missense_Mutation_p.A1597G|TSC2_ENST00000350773.4_Missense_Mutation_p.A1689G|TSC2_ENST00000353929.4_Missense_Mutation_p.A1669G|TSC2_ENST00000401874.2_Missense_Mutation_p.A1645G|TSC2_ENST00000439673.2_Missense_Mutation_p.A1609G	NM_000548.3	NP_000539.2	P49815	TSC2_HUMAN	tuberous sclerosis 2	1712	Rap-GAP.		A -> E (in TSC2).		cell cycle arrest|endocytosis|heart development|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|negative regulation of cell size|negative regulation of phosphatidylinositol 3-kinase cascade|negative regulation of protein kinase B signaling cascade|negative regulation of TOR signaling cascade|negative regulation of Wnt receptor signaling pathway|nerve growth factor receptor signaling pathway|neural tube closure|phosphatidylinositol-mediated signaling|positive chemotaxis|protein import into nucleus|protein kinase B signaling cascade|regulation of endocytosis|regulation of insulin receptor signaling pathway|regulation of small GTPase mediated signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm|TSC1-TSC2 complex	GTPase activator activity|protein homodimerization activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(3)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|soft_tissue(1)	56		Hepatocellular(780;0.0202)				CCCTTCGTGGCCCGCCAGATG	0.662			"D, Mis, N, F, S"			"hamartoma, renal cell"			Tuberous Sclerosis				G	2138115	C	G	2138115	3	3	635	1	0	0	0	0	1	0	0	0	16707	739	26	4	5289	4	TSC2	16	2138115	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	1523011	2138115	88216638	92	51638											
ZFHX3	463	broad.mit.edu	37	chr16	72991939	72991939	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgcccgcttttgcagtaGacacaggagccccccggctc	6	7	12	16	2	0	1	0	0	0	1	1	2	0	2	4	3	3	5	4	3	1	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:72991939G>C	ENST00000268489.5	-	2	2778	c.2106C>G	c.(2104-2106)gtC>gtG	p.V702V	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	702					muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTTTGCAGTAGACACAGGAGC	0.597													C	72991939	G	C	72991939	2	2	635	1	0	0	0	0	0	0	0	1	17735	929	33	4		4	ZFHX3	16	72991939	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	70853824	72991939	17362814	93	51639											
MAF	4094	broad.mit.edu	37	chr16	79633769	79633769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	caggggactggtgggcaggtCggagttgctcattgccagtt	6	10	17	8	1	1	0	1	0	0	0	2	2	1	2	1	6	2	4	1	6	0	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr16:79633769C>G	ENST00000393350.1	-	1	842	c.31G>C	c.(31-33)Gac>Cac	p.D11H	MAF_ENST00000326043.4_Missense_Mutation_p.D11H|MAF_ENST00000569649.1_Missense_Mutation_p.D11H	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	11					transcription from RNA polymerase II promoter	chromatin|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		GTGGGCAGGTCGGAGTTGCTC	0.612			T	IGH@	MM								G	79633769	C	G	79633769	3	3	635	1	0	0	0	0	1	0	0	0	9226	884	31	4	1192	4	MAF	16	79633769	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6641830	79633769	10720984	94	51640											
AIPL1	23746	broad.mit.edu	37	chr17	6331637	6331637	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgccaaccccagccccaCctgcagcagctcgatcacaa	10	4	6	21	1	1	0	1	0	0	0	2	1	1	0	7	0	6	3	7	0	2	0			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:6331637C>T	ENST00000381129.3	-	3	546		c.e3+1		AIPL1_ENST00000571740.1_Splice_Site|AIPL1_ENST00000575265.1_Splice_Site|AIPL1_ENST00000250087.5_Intron|AIPL1_ENST00000576776.1_Splice_Site|AIPL1_ENST00000576307.1_Splice_Site|AIPL1_ENST00000570466.1_Splice_Site|AIPL1_ENST00000574506.1_Splice_Site	NM_001033055.1|NM_014336.3	NP_001028227.1|NP_055151.3	Q9NZN9	AIPL1_HUMAN	aryl hydrocarbon receptor interacting protein-like 1						protein farnesylation|protein folding|visual perception	cytoplasm|nucleus	farnesylated protein binding|unfolded protein binding			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|skin(1)	12				COAD - Colon adenocarcinoma(228;0.141)		CCCAGCCCCACCTGCAGCAGC	0.657													T	6331637	C	T	6331637	5	4	635	1	0	0	0	0	0	0	1	0	436	521	18	2	704	2	AIPL1	17	6331637	Splice_Site	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		6331637	74863573	95	51641											
TP53	7157	broad.mit.edu	37	chr17	7577144	7577144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaaagctgttccgtcccAgtagattaccactactcagg	10	10	7	14	1	2	1	2	0	0	1	4	1	4	1	4	1	3	3	4	1	4	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:7577144A>G	ENST00000420246.2	-	8	926	c.794T>C	c.(793-795)cTg>cCg	p.L265P	TP53_ENST00000269305.4_Missense_Mutation_p.L265P|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.L265P|TP53_ENST00000455263.2_Missense_Mutation_p.L265P|TP53_ENST00000359597.4_Missense_Mutation_p.L265P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	265	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		L -> M (in sporadic cancers; somatic mutation).|L -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (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.L265P(15)|p.0?(8)|p.L265R(5)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G262_S269delGNLLGRNS(2)|p.N263fs*5(1)|p.L265del(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.L265_R267delLGR(1)|p.L265Q(1)|p.G262fs*2(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)		GTTCCGTCCCAGTAGATTACC	0.522		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)			G	7577144	A	G	7577144	3	3	635	1	0	0	0	0	1	0	0	0	16482	188	7	3	492	3	TP53	17	7577144	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	1245507	7577144	73618066	96	51642											
MYH4	4622	broad.mit.edu	37	chr17	10363541	10363541	+	Frame_Shift_Del	DEL	G	G	-																															tgctgcacagtctggcctttGgttacgaactcattgccgac																										TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:10363541delG	ENST00000255381.2	-	13	1355	c.1245delC	c.(1243-1245)accfs	p.T415fs	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	415	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TCTGGCCTTTGGTTACGAACT	0.428													-	10363541	G	-	10363541	7	5	635	1	0	1	0	1	0	0	0	0	10113	1335	47	0	4686	0	MYH4	17	10363541	Frame_Shift_Del	DEL	G	TCGA-P5-A5EV-01A-11D-A27K-08	2786397	10363541	70831669	97	51643											
IKZF3	22806	broad.mit.edu	37	chr17	37947817	37947817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagatgccccacactgattAcactggaatgggcgttcacc	12	8	9	12	1	1	2	1	1	0	1	1	3	1	3	3	2	2	1	3	2	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:37947817A>G	ENST00000346872.3	-	5	505	c.444T>C	c.(442-444)tgT>tgC	p.C148C	IKZF3_ENST00000346243.3_Silent_p.C148C|IKZF3_ENST00000439016.2_Intron|IKZF3_ENST00000467757.1_Intron|IKZF3_ENST00000394189.2_Intron|IKZF3_ENST00000350532.3_Silent_p.C148C|IKZF3_ENST00000377958.2_Silent_p.C61C|IKZF3_ENST00000439167.2_Silent_p.C114C|IKZF3_ENST00000535189.1_Silent_p.C114C|IKZF3_ENST00000377945.3_Intron|IKZF3_ENST00000377944.3_Intron|IKZF3_ENST00000351680.3_Silent_p.C148C|IKZF3_ENST00000377952.2_Intron	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	148					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			CACACTGATTACACTGGAATG	0.438													G	37947817	A	G	37947817	2	3	635	1	0	0	0	0	0	0	0	1	7674	389	14	3		3	IKZF3	17	37947817	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	27584276	37947817	43247393	98	51644											
HOXB5	3215	broad.mit.edu	37	chr17	46669799	46669799	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tacgcggtccgggcccttttCccgtccggcccggtcatatc	3	10	11	17	6	1	0	1	0	0	0	5	0	4	0	5	4	1	0	5	4	2	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:46669799C>G	ENST00000239151.5	-	2	860	c.582G>C	c.(580-582)ggG>ggC	p.G194G	HOXB-AS3_ENST00000480872.1_RNA|HOXB-AS3_ENST00000474040.1_RNA|HOXB-AS3_ENST00000492897.3_RNA|HOXB-AS3_ENST00000467155.2_RNA|HOXB3_ENST00000552000.2_Intron|HOXB-AS3_ENST00000487849.3_RNA|HOXB-AS3_ENST00000465846.2_RNA|HOXB-AS3_ENST00000429755.4_RNA|HOXB-AS3_ENST00000476204.1_RNA	NM_002147.3	NP_002138.1	P09067	HXB5_HUMAN	homeobox B5	194						nucleus	sequence-specific DNA binding			large_intestine(1)|lung(2)	3						GGGCCCTTTTCCCGTCCGGCC	0.632													G	46669799	C	G	46669799	2	3	635	1	0	0	0	0	0	0	0	1	7359	842	30	4		4	HOXB5	17	46669799	Silent	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	8721982	46669799	34525411	99	51645											
ABCA6	23460	broad.mit.edu	37	chr17	67111542	67111542	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttggaacagacaatccattAagaatatttagcagtgaaga	17	10	9	5	0	0	4	0	1	0	3	1	5	1	5	1	1	2	2	1	1	7	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:67111542A>G	ENST00000284425.2	-	12	1755	c.1581T>C	c.(1579-1581)ctT>ctC	p.L527L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	527	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					ACAATCCATTAAGAATATTTA	0.368													G	67111542	A	G	67111542	2	3	635	1	0	0	0	0	0	0	0	1	36	349	13	3		3	ABCA6	17	67111542	Silent	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	20441743	67111542	14083668	100	51646											
GPRC5C	55890	broad.mit.edu	37	chr17	72443103	72443103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcggcccagagccaccaggCggccacaccgccgaaagacg	10	1	12	18	5	0	2	0	0	0	2	1	3	0	2	6	3	1	0	6	3	1	0	rs144073326		TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr17:72443103C>T	ENST00000392627.1	+	4	2523	c.1397C>T	c.(1396-1398)gCg>gTg	p.A466V	GPRC5C_ENST00000342648.5_Missense_Mutation_p.A106V|GPRC5C_ENST00000481232.1_3'UTR|GPRC5C_ENST00000582873.1_3'UTR|GPRC5C_ENST00000392629.2_Missense_Mutation_p.A433V	NM_022036.2	NP_071319.2	Q9NQ84	GPC5C_HUMAN	G protein-coupled receptor, family C, group 5, member C	421						cytoplasmic vesicle membrane|integral to plasma membrane	G-protein coupled receptor activity|protein binding			central_nervous_system(1)|large_intestine(3)|lung(9)|ovary(2)|pancreas(1)|prostate(1)	17						AGCCACCAGGCGGCCACACCG	0.637													T	72443103	C	T	72443103	3	4	635	1	0	0	0	0	1	0	0	0	6781	768	27	1	1419	1	GPRC5C	17	72443103	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	5331561	72443103	8752107	101	51647											
LAMA3	3909	broad.mit.edu	37	chr18	21438713	21438713	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcattccatttggacccaGccaatctcaagggttgtacc	9	11	8	13	0	2	0	2	0	1	0	4	1	3	1	4	2	2	3	4	2	3	4			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:21438713G>C	ENST00000313654.9	+	34	4583	c.4342G>C	c.(4342-4344)Gcc>Ccc	p.A1448P	LAMA3_ENST00000399516.3_Missense_Mutation_p.A1448P	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	1448	Domain III B.|Laminin EGF-like 12.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	TTTGGACCCAGCCAATCTCAA	0.413													C	21438713	G	C	21438713	3	2	635	1	0	0	0	0	1	0	0	0	8666	971	34	4	4476	4	LAMA3	18	21438713	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		21438713	56638535	102	51648											
MYO5B	4645	broad.mit.edu	37	chr18	47383224	47383224	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaggccaagccgagttcTccatcttcatttaaatatcc	10	13	7	11	1	3	0	1	0	2	0	5	1	4	0	4	2	1	2	4	2	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:47383224T>G	ENST00000285039.7	-	30	4280	c.3981A>C	c.(3979-3981)ggA>ggC	p.G1327G	MYO5B_ENST00000324581.6_Intron	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1327					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		AGCCGAGTTCTCCATCTTCAT	0.488													G	47383224	T	G	47383224	2	3	635	1	0	0	0	0	0	0	0	1	10155	1538	54	5		5	MYO5B	18	47383224	Silent	SNP	T	TCGA-P5-A5EV-01A-11D-A27K-08	25944511	47383224	30694024	103	51649											
SALL3	27164	broad.mit.edu	37	chr18	76753213	76753213	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cgcccaatgtgtcggtgttcGagcccaaagccagcgccgag	8	6	13	14	5	0	0	0	0	0	0	2	2	0	0	4	1	3	1	4	1	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:76753213G>C	ENST00000536229.3	+	1	1532	c.823G>C	c.(823-825)Gag>Cag	p.E275Q	SALL3_ENST00000575389.2_Missense_Mutation_p.E408Q|SALL3_ENST00000537592.2_Missense_Mutation_p.E408Q			Q9BXA9	SALL3_HUMAN	spalt-like transcription factor 3	408					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(8)|lung(40)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	74		Esophageal squamous(42;0.129)|Melanoma(33;0.16)|Prostate(75;0.167)		OV - Ovarian serous cystadenocarcinoma(15;4.69e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0256)		GTCGGTGTTCGAGCCCAAAGC	0.657													C	76753213	G	C	76753213	3	2	635	1	0	0	0	0	1	0	0	0	13903	1059	37	4	1228	4	SALL3	18	76753213	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	29369989	76753213	1324035	104	51650											
TXNL4A	10907	broad.mit.edu	37	chr18	77748273	77748273	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtacaggacctcgtccatCttcatgcacgtaggatccca	9	10	8	14	2	2	0	1	0	1	0	5	2	4	2	3	2	2	3	3	2	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr18:77748273C>G	ENST00000269601.5	-	1	320	c.120G>C	c.(118-120)aaG>aaC	p.K40N	TXNL4A_ENST00000591711.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000585474.1_Intron|TXNL4A_ENST00000588162.1_Missense_Mutation_p.K40N|TXNL4A_ENST00000592957.1_Intron	NM_006701.2	NP_006692.1	P83876	TXN4A_HUMAN	thioredoxin-like 4A	40					cell division|mitosis|spliceosome assembly	nucleoplasm|spliceosomal complex	protein binding			breast(1)|large_intestine(1)|lung(3)	5		all_cancers(4;1.15e-12)|all_epithelial(4;8.61e-09)|all_lung(4;0.00366)|Lung NSC(4;0.00683)|Esophageal squamous(42;0.0212)|Ovarian(4;0.0646)|Melanoma(33;0.2)		OV - Ovarian serous cystadenocarcinoma(15;7.36e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0249)		CCTCGTCCATCTTCATGCACG	0.667													G	77748273	C	G	77748273	3	3	635	1	0	0	0	0	1	0	0	0	16907	912	32	4	320	4	TXNL4A	18	77748273	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	995060	77748273	328975	105	51651											
MYO1F	4542	broad.mit.edu	37	chr19	8617006	8617006	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gttggagatcttgcccccatCtggctccccacctcggctga	5	10	10	16	1	2	2	0	1	2	1	4	3	3	2	5	3	1	3	5	3	0	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:8617006C>G	ENST00000338257.8	-	7	814	c.547G>C	c.(547-549)Gat>Cat	p.D183H		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	183	Myosin head-like.					unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						TTGCCCCCATCTGGCTCCCCA	0.552													G	8617006	C	G	8617006	3	3	635	1	0	0	0	0	1	0	0	0	10149	913	32	4	2837	4	MYO1F	19	8617006	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		8617006	50511977	106	51652											
MUC16	94025	broad.mit.edu	37	chr19	9065338	9065338	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccagcacctctactcacaaGagtggttatctctgagtgtg	9	11	9	12	0	3	2	1	1	2	1	4	2	3	2	2	1	2	2	2	1	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9065338G>C	ENST00000397910.4	-	3	22311	c.22108C>G	c.(22108-22110)Ctt>Gtt	p.L7370V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7372	Ser-rich.|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						CTACTCACAAGAGTGGTTATC	0.493													C	9065338	G	C	9065338	3	2	635	1	0	0	0	0	1	0	0	0	10049	942	33	4	21743	4	MUC16	19	9065338	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	448332	9065338	50063645	107	51653											
MUC16	94025	broad.mit.edu	37	chr19	9070563	9070563	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcagggaaaacccagagctgGtttcttccacagggggagtt	10	9	13	9	0	2	1	1	0	1	1	3	3	3	3	2	4	2	3	2	4	2	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:9070563G>C	ENST00000397910.4	-	3	17086	c.16883C>G	c.(16882-16884)aCc>aGc	p.T5628S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5630	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						CCCAGAGCTGGTTTCTTCCAC	0.537													C	9070563	G	C	9070563	3	2	635	1	0	0	0	0	1	0	0	0	10049	1261	44	4	26968	4	MUC16	19	9070563	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5225	9070563	50058420	108	51654											
SIGLEC6	946	broad.mit.edu	37	chr19	52034681	52034681	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggctggaagggtagtggGcaatctgcagggtacgagga	10	6	19	6	2	1	0	0	0	1	0	1	4	1	2	0	6	2	5	0	6	4	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:52034681G>T	ENST00000346477.3	-	2	228	c.160C>A	c.(160-162)Ccc>Acc	p.P54T	SIGLEC6_ENST00000343300.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.P54T|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000425629.3_Missense_Mutation_p.P54T|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.P54T	NM_198845.4	NP_942142.3	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	54	Ig-like V-type.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGGGTAGTGGGCAATCTGCAG	0.597													T	52034681	G	T	52034681	3	4	635	1	0	0	0	0	1	0	0	0	14406	1203	42	4	1262	4	SIGLEC6	19	52034681	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	42964118	52034681	7094302	109	51655											
ZNF71	58491	broad.mit.edu	37	chr19	57133977	57133977	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagaagccgtacaggtgcgGccagtgcgggaagtccttca	9	6	15	11	4	1	1	1	0	0	1	2	3	2	2	3	3	4	1	3	3	3	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr19:57133977G>C	ENST00000328070.6	+	3	1556	c.1322G>C	c.(1321-1323)gGc>gCc	p.G441A		NM_021216.4	NP_067039.1	Q9NQZ8	ZNF71_HUMAN	zinc finger protein 71	441						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(3)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	26				GBM - Glioblastoma multiforme(193;0.062)|Lung(386;0.0681)|LUSC - Lung squamous cell carcinoma(496;0.18)		TACAGGTGCGGCCAGTGCGGG	0.647													C	57133977	G	C	57133977	3	2	635	1	0	0	0	0	1	0	0	0	18215	1203	42	4	1324	4	ZNF71	19	57133977	Missense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08	5099296	57133977	1995006	110	51656											
NKX2-2	4821	broad.mit.edu	37	chr20	21492707	21492707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcccgcctggaaggtggCggctgccaggtcctgggctt	5	8	16	12	2	0	0	0	0	0	0	1	1	1	1	4	6	2	2	4	6	2	1			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:21492707C>T	ENST00000377142.4	-	2	1032	c.676G>A	c.(676-678)Gcc>Acc	p.A226T	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	226					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						TGGAAGGTGGCGGCTGCCAGG	0.677													T	21492707	C	T	21492707	3	4	635	1	0	0	0	0	1	0	0	0	10526	768	27	1	149	1	NKX2-2	20	21492707	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		21492707	41532813	111	51657											
ZNFX1	57169	broad.mit.edu	37	chr20	47887262	47887262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cagatagatagcagtgctgtCgtattttccagaaatgatat	13	13	9	6	1	0	4	0	1	0	3	2	4	1	4	1	0	2	3	1	0	5	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr20:47887262C>G	ENST00000396105.1	-	3	1333	c.1087G>C	c.(1087-1089)Gac>Cac	p.D363H	ZNFX1_ENST00000371752.1_Missense_Mutation_p.D363H|ZNFX1_ENST00000371754.4_Missense_Mutation_p.D363H	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	363							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			GCAGTGCTGTCGTATTTTCCA	0.473													G	47887262	C	G	47887262	3	3	635	1	0	0	0	0	1	0	0	0	18304	884	31	4	4717	4	ZNFX1	20	47887262	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	26394555	47887262	15138258	112	51658											
IFNAR1	3454	broad.mit.edu	37	chr21	34713352	34713352	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgggtgtcagaatattaCtagtaccaaatgcaactttt	12	14	8	7	0	2	1	1	0	1	1	2	1	2	1	1	1	4	2	1	1	7	6			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34713352C>G	ENST00000270139.3	+	3	400	c.248C>G	c.(247-249)aCt>aGt	p.T83S	IFNAR1_ENST00000442357.2_Missense_Mutation_p.T83S|IFNAR1_ENST00000416947.2_Missense_Mutation_p.T14S	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1	83					JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	CAGAATATTACTAGTACCAAA	0.308													G	34713352	C	G	34713352	3	3	635	1	0	0	0	0	1	0	0	0	7602	565	20	4	258	4	IFNAR1	21	34713352	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08		34713352	13416543	113	51659											
SON	6651	broad.mit.edu	37	chr21	34927038	34927038	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgttccaaatcttctgaacAcaaatcacgcaagcgtacca	14	8	6	13	3	3	1	1	1	2	0	4	1	4	1	2	0	3	3	2	0	5	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr21:34927038A>G	ENST00000356577.4	+	3	5976	c.5501A>G	c.(5500-5502)cAc>cGc	p.H1834R	SON_ENST00000300278.4_Missense_Mutation_p.H1834R|SON_ENST00000381679.4_Missense_Mutation_p.H1834R|SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.H1834R	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	1834					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						TCTTCTGAACACAAATCACGC	0.423													G	34927038	A	G	34927038	3	3	635	1	0	0	0	0	1	0	0	0	15020	159	6	3	5511	3	SON	21	34927038	Missense_Mutation	SNP	A	TCGA-P5-A5EV-01A-11D-A27K-08	213686	34927038	13202857	114	51660											
MCAT	27349	broad.mit.edu	37	chr22	43529109	43529109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgcagcacatccacGgcgctgtaggacttccaggc	8	7	13	13	2	1	0	0	0	1	0	3	1	3	1	2	4	2	4	2	4	1	2	rs139106285	byFrequency	TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:43529109G>A	ENST00000290429.6	-	4	1158	c.1113C>T	c.(1111-1113)gcC>gcT	p.A371A	MCAT_ENST00000327555.5_3'UTR	NM_173467.4	NP_775738.3	Q8IVS2	FABD_HUMAN	malonyl CoA:ACP acyltransferase (mitochondrial)						fatty acid biosynthetic process	mitochondrion	[acyl-carrier-protein] S-malonyltransferase activity|binding			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|ovary(1)|urinary_tract(1)	11		Ovarian(80;0.0694)				GCACATCCACGGCGCTGTAGG	0.617													A	43529109	G	A	43529109	2	1	635	1	0	0	0	0	0	0	0	1	9447	1103	39	1		1	MCAT	22	43529109	Silent	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		43529109	7775457	115	51661											
BRD1	23774	broad.mit.edu	37	chr22	50217117	50217117	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccccagcggtcgtcatctgtCtttttgaaggcaccaccctt	6	12	8	15	2	3	1	1	1	2	0	4	1	3	1	4	2	1	1	4	2	1	3			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50217117C>G	ENST00000216267.8	-	1	1335	c.849G>C	c.(847-849)aaG>aaC	p.K283N	BRD1_ENST00000457780.2_Missense_Mutation_p.K283N|BRD1_ENST00000404034.1_Missense_Mutation_p.K283N|BRD1_ENST00000404760.1_Missense_Mutation_p.K283N	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	283					histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CGTCATCTGTCTTTTTGAAGG	0.647													G	50217117	C	G	50217117	3	3	635	1	0	0	0	0	1	0	0	0	1510	912	32	4	2375	4	BRD1	22	50217117	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	6688008	50217117	1087449	116	51662											
PANX2	56666	broad.mit.edu	37	chr22	50609371	50609371	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggtcaccctggtcttcaCcaagaacttcgcaggtgagg	8	9	12	12	1	3	2	2	1	1	1	4	2	3	2	2	4	1	2	2	4	2	2			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chr22:50609371C>G	ENST00000395842.2	+	1	212	c.212C>G	c.(211-213)aCc>aGc	p.T71S	PANX2_ENST00000159647.5_Missense_Mutation_p.T71S	NM_052839.3	NP_443071.2	Q96RD6	PANX2_HUMAN	pannexin 2	71					protein hexamerization|synaptic transmission	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(1)|skin(1)	7		all_cancers(38;1.14e-10)|all_epithelial(38;2.12e-09)|all_lung(38;7.01e-05)|Breast(42;0.000523)|Lung NSC(38;0.0018)|Ovarian(80;0.0365)|Lung SC(80;0.113)		LUAD - Lung adenocarcinoma(64;0.105)		CTGGTCTTCACCAAGAACTTC	0.731													G	50609371	C	G	50609371	3	3	635	1	0	0	0	0	1	0	0	0	11497	507	18	4	214	4	PANX2	22	50609371	Missense_Mutation	SNP	C	TCGA-P5-A5EV-01A-11D-A27K-08	392254	50609371	695195	117	51663											
ATRX	546	broad.mit.edu	37	chrX	76937038	76937038	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	attggcaaaatccagtatgtGaagacagcactaaattttca	16	11	7	7	0	1	2	1	1	0	1	2	2	2	2	1	1	1	3	1	1	6	5			TCGA-P5-A5EV-01A-11D-A27K-08	TCGA-P5-A5EV-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bff5bd37-e4e7-49c2-9409-83767ef69c1e	b6f238d3-7707-4848-9aa9-24469257d1e4	g.chrX:76937038G>C	ENST00000373344.5	-	9	3924	c.3710C>G	c.(3709-3711)tCa>tGa	p.S1237*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S1199*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1237					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)	TCCAGTATGTGAAGACAGCAC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76937038	G	C	76937038	4	2	635	1	0	0	0	0	0	1	0	0	1213	1294	45	4	3876	4	ATRX	23	76937038	Nonsense_Mutation	SNP	G	TCGA-P5-A5EV-01A-11D-A27K-08		76937038	78333522	118	51664											
TMCC2	9911	broad.mit.edu	37	chr1	205210633	205210633	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatctctcccccttaagAaaatccagcagctgtcagag	11	10	6	14	0	3	2	2	0	1	2	6	2	5	2	3	0	2	2	3	0	3	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:205210633A>G	ENST00000358024.3	+	2	597	c.208A>G	c.(208-210)Aaa>Gaa	p.K70E	TMCC2_ENST00000545499.1_5'UTR|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	70						integral to membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			CCCCCTTAAGAAAATCCAGCA	0.557													G	205210633	A	G	205210633	5	3	636	1	0	0	0	0	0	0	1	0	16093	260	9	3	214	3	TMCC2	1	205210633	Splice_Site	SNP	A	TCGA-P5-A5EW-01A-11D-A27K-08		205210633	44039988	1	51665											
OR2B11	127623	broad.mit.edu	37	chr1	247614765	247614765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgttcagcacctgccgccCgcagaatggcaattgcaccg	8	8	11	14	3	1	1	1	0	0	1	1	1	1	1	4	1	3	6	4	1	2	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr1:247614765C>T	ENST00000318749.6	-	1	543	c.520G>A	c.(520-522)Ggg>Agg	p.G174R		NM_001004492.1	NP_001004492.1	Q5JQS5	OR2BB_HUMAN	olfactory receptor, family 2, subfamily B, member 11	174					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.G174R(1)		endometrium(3)|kidney(13)|large_intestine(7)|lung(31)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	60	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.241)	OV - Ovarian serous cystadenocarcinoma(106;0.0188)			ACCTGCCGCCCGCAGAATGGC	0.597													T	247614765	C	T	247614765	3	4	636	1	0	0	0	0	1	0	0	0	11064	652	23	1	436	1	OR2B11	1	247614765	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	42404132	247614765	1635856	2	51666											
RGPD3	653489	broad.mit.edu	37	chr2	107029596	107029596	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggctgagctgcaacatcgtaTttataacaggaagaagtctc	13	10	10	8	1	1	2	0	1	1	1	3	3	1	3	0	2	4	4	0	2	6	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:107029596T>C	ENST00000409886.3	-	22	5297	c.5210A>G	c.(5209-5211)aAt>aGt	p.N1737S	RGPD3_ENST00000304514.7_Missense_Mutation_p.N1737S	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1737	GRIP.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						CAACATCGTATTTATAACAGG	0.438													C	107029596	T	C	107029596	3	2	636	1	0	0	0	0	1	0	0	0	13375	1493	52	3	74	3	RGPD3	2	107029596	Missense_Mutation	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08		107029596	136169777	3	51667											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	636	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	102083516	209113112	34086261	4	51668											
CDCP1	64866	broad.mit.edu	37	chr3	45127212	45127212	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacatccccattgttgggaTgggagaaggtgtacggttca	9	12	13	7	1	1	1	1	0	0	1	2	3	2	2	2	4	2	3	2	4	3	5			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:45127212T>C	ENST00000296129.1	-	9	2563	c.2429A>G	c.(2428-2430)cAt>cGt	p.H810R		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	810						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		ATTGTTGGGATGGGAGAAGGT	0.552													C	45127212	T	C	45127212	3	2	636	1	0	0	0	0	1	0	0	0	3123	1464	51	3	85	3	CDCP1	3	45127212	Missense_Mutation	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08		45127212	152895218	5	51669											
CHST13	166012	broad.mit.edu	37	chr3	126261320	126261320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcagcgcgcctcttcCgggacatcagccccttctac	6	8	9	18	3	3	0	1	0	2	0	4	1	4	1	5	2	3	1	5	2	1	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr3:126261320C>T	ENST00000319340.2	+	3	975	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W		NM_152889.2	NP_690849.1	Q8NET6	CHSTD_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 13	309					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			central_nervous_system(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(114;0.151)		GCGCCTCTTCCGGGACATCAG	0.692													T	126261320	C	T	126261320	3	4	636	1	0	0	0	0	1	0	0	0	3431	643	23	1	935	1	CHST13	3	126261320	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	81134108	126261320	71761110	6	51670											
MEGF10	84466	broad.mit.edu	37	chr5	126776527	126776527	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggcagtgtacttgccGcactggattcatgggacggc	6	11	14	10	2	2	0	1	0	1	0	2	2	2	2	1	4	2	3	1	4	1	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:126776527G>A	ENST00000274473.6	+	19	2597	c.2330G>A	c.(2329-2331)cGc>cAc	p.R777H	MEGF10_ENST00000503335.2_Missense_Mutation_p.R777H	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	777	EGF-like 14.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		TGTACTTGCCGCACTGGATTC	0.468													A	126776527	G	A	126776527	3	1	636	1	0	0	0	0	1	0	0	0	9535	1087	38	1	2396	1	MEGF10	5	126776527	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		126776527	54138733	7	51671											
PCDHGA1	56114	broad.mit.edu	37	chr5	140711256	140711256	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctaaagttaaggtactgatCaaagttttggatgtaaatga	15	13	10	3	0	1	2	1	2	0	0	1	3	1	3	0	2	1	5	0	2	7	6			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:140711256C>A	ENST00000517417.1	+	1	1005	c.1005C>A	c.(1003-1005)atC>atA	p.I335I	PCDHGA1_ENST00000378105.3_Silent_p.I335I	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGTACTGATCAAAGTTTTGG	0.418													A	140711256	C	A	140711256	2	1	636	1	0	0	0	0	0	0	0	1	11626	816	29	4		4	PCDHGA1	5	140711256	Silent	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	13934729	140711256	40204004	8	51672											
GABRP	2568	broad.mit.edu	37	chr5	170236583	170236583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcccaggagtgacgaccGtgttatcaatgaccacactg	10	11	9	11	2	1	2	1	2	0	0	2	4	2	3	3	1	0	1	3	1	2	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr5:170236583G>A	ENST00000518525.1	+	10	1308	c.844G>A	c.(844-846)Gtg>Atg	p.V282M	GABRP_ENST00000519598.1_Missense_Mutation_p.V282M|GABRP_ENST00000265294.4_Missense_Mutation_p.V282M|GABRP_ENST00000519385.1_Intron			O00591	GBRP_HUMAN	gamma-aminobutyric acid (GABA) A receptor, pi	282						cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(5)|large_intestine(4)|lung(11)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	29	Renal(175;0.000159)|Lung NSC(126;0.0122)|all_lung(126;0.0193)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGTGACGACCGTGTTATCAAT	0.517											OREG0017032	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	170236583	G	A	170236583	3	1	636	1	0	0	0	0	1	0	0	0	6226	1145	40	1	874	1	GABRP	5	170236583	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	29525327	170236583	10678677	9	51673											
CYP39A1	51302	broad.mit.edu	37	chr6	46518143	46518143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caattcggcattgcccttccGgctgggggacacccaccaaa	9	7	10	15	2	0	0	0	0	0	0	2	1	1	1	4	4	1	2	4	4	2	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr6:46518143G>A	ENST00000275016.2	-	12	1573	c.1370C>T	c.(1369-1371)cCg>cTg	p.P457L		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	457					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						TTGCCCTTCCGGCTGGGGGAC	0.458													A	46518143	G	A	46518143	3	1	636	1	0	0	0	0	1	0	0	0	4210	1116	39	1	43	1	CYP39A1	6	46518143	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		46518143	124596924	10	51674											
FBXL6	26233	broad.mit.edu	37	chr8	145580132	145580132	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggctagggaagcctggtccGggagccacccctcgtcccgg	6	5	15	15	3	0	0	0	0	0	0	3	2	2	2	6	5	2	1	6	5	2	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr8:145580132G>A	ENST00000331890.5	-	7	1117	c.1053C>T	c.(1051-1053)ccC>ccT	p.P351P	FBXL6_ENST00000455319.2_Silent_p.P345P|FBXL6_ENST00000526524.1_5'UTR	NM_012162.2	NP_036294.2	Q8N531	FBXL6_HUMAN	F-box and leucine-rich repeat protein 6	351					proteolysis		ubiquitin-protein ligase activity			endometrium(1)|lung(3)|ovary(1)	5	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;4.43e-40)|Epithelial(56;1.48e-39)|all cancers(56;1.49e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			AGCCTGGTCCGGGAGCCACCC	0.652													A	145580132	G	A	145580132	2	1	636	1	0	0	0	0	0	0	0	1	5772	1103	39	1		1	FBXL6	8	145580132	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		145580132	783890	11	51675											
LRRC32	2615	broad.mit.edu	37	chr11	76371010	76371010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagctgttgtttcgcaGgtccagcacctccagtgaca	8	10	11	12	1	0	2	0	2	0	0	3	2	2	2	3	1	2	6	3	1	1	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr11:76371010G>A	ENST00000407242.2	-	3	1869	c.1627C>T	c.(1627-1629)Ctg>Ttg	p.L543L	LRRC32_ENST00000260061.5_Silent_p.L543L|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Silent_p.L543L|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	543						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						TTGTTTCGCAGGTCCAGCACC	0.637													A	76371010	G	A	76371010	2	1	636	1	0	0	0	0	0	0	0	1	9057	991	35	2		2	LRRC32	11	76371010	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		76371010	58635506	12	51676											
FOS	2353	broad.mit.edu	37	chr14	75747676	75747676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggggcctgccagaggttgCcaccccggagtctgaggagg	6	6	18	11	1	1	2	0	1	1	1	1	4	1	4	5	6	2	1	5	6	0	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr14:75747676C>T	ENST00000303562.4	+	4	901	c.692C>T	c.(691-693)gCc>gTc	p.A231V	FOS_ENST00000555347.1_Missense_Mutation_p.A83V|FOS_ENST00000555686.1_Missense_Mutation_p.A117V|FOS_ENST00000535987.1_Missense_Mutation_p.A195V	NM_005252.3	NP_005243.1	P01100	FOS_HUMAN	FBJ murine osteosarcoma viral oncogene homolog	231					cellular response to reactive oxygen species|DNA methylation|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein signal transduction|stress-activated MAPK cascade|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|transcription from RNA polymerase II promoter|transforming growth factor beta receptor signaling pathway		protein dimerization activity|R-SMAD binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_lung(585;0.0138)|all_epithelial(191;0.0263)|all_neural(303;0.112)		BRCA - Breast invasive adenocarcinoma(234;0.0117)		CCAGAGGTTGCCACCCCGGAG	0.607													T	75747676	C	T	75747676	3	4	636	1	0	0	0	0	1	0	0	0	6034	739	26	2	706	2	FOS	14	75747676	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		75747676	31601864	13	51677											
LDHAL6B	92483	broad.mit.edu	37	chr15	59499792	59499792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaatctggatactgctcGttttcgtttcttgattggac	6	18	9	8	2	2	1	0	1	2	0	4	3	2	3	0	2	2	4	0	2	2	7			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:59499792G>A	ENST00000307144.4	+	1	751	c.653G>A	c.(652-654)cGt>cAt	p.R218H	MYO1E_ENST00000288235.4_Intron	NM_033195.2	NP_149972.1	Q9BYZ2	LDH6B_HUMAN	lactate dehydrogenase A-like 6B	218					glycolysis	cytoplasm	L-lactate dehydrogenase activity|protein binding			endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)	10					NADH(DB00157)	GATACTGCTCGTTTTCGTTTC	0.438													A	59499792	G	A	59499792	3	1	636	1	0	0	0	0	1	0	0	0	8759	1145	40	1	655	1	LDHAL6B	15	59499792	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		59499792	43031600	14	51678											
SCAPER	49855	broad.mit.edu	37	chr15	77087752	77087752	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctgtgggagccagaCgaggagctggcactgtgcca	9	6	15	11	1	0	2	0	1	0	1	0	5	0	4	3	3	3	2	3	3	0	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr15:77087752C>T	ENST00000563290.1	-	8	736	c.641G>A	c.(640-642)cGt>cAt	p.R214H	SCAPER_ENST00000324767.7_Missense_Mutation_p.R214H|SCAPER_ENST00000562890.1_5'UTR|SCAPER_ENST00000538941.2_5'UTR			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	213						endoplasmic reticulum|nucleus	zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						GGGAGCCAGACGAGGAGCTGG	0.418													T	77087752	C	T	77087752	3	4	636	1	0	0	0	0	1	0	0	0	13970	536	19	1	3699	1	SCAPER	15	77087752	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	17587960	77087752	25443640	15	51679											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	636	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		7577120	73618090	16	51680											
ABCA7	10347	broad.mit.edu	37	chr19	1056970	1056970	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttgccatgtcctttgtcccgGccagcttcactcttgtcctc	3	15	7	16	1	2	0	1	0	1	0	6	0	5	0	5	1	2	1	5	1	0	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:1056970G>A	ENST00000263094.6	+	34	4882	c.4651G>A	c.(4651-4653)Gcc>Acc	p.A1551T	ABCA7_ENST00000435683.2_Missense_Mutation_p.A1413T|ABCA7_ENST00000433129.1_Missense_Mutation_p.A1551T	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1551					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTTTGTCCCGGCCAGCTTCAC	0.592													A	1056970	G	A	1056970	3	1	636	1	0	0	0	0	1	0	0	0	37	1203	42	2	4781	2	ABCA7	19	1056970	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		1056970	58072013	17	51681											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-																															ccttgggccctggtcgcgggGctgctgctgctgctgctgct																										TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													-	6531151	GCT	-	6531149	7	5	636	1	0	1	0	1	0	0	0	0	16412	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-P5-A5EW-01A-11D-A27K-08	5474179	6531149	52597834	18	51682											
KRI1	65095	broad.mit.edu	37	chr19	10668901	10668901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacggccccgtagtactcGtccccaaagcacttctgcag	8	8	8	17	3	1	0	0	0	1	0	4	0	3	0	5	1	3	4	5	1	3	3			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:10668901G>A	ENST00000312962.6	-	13	1246	c.1227C>T	c.(1225-1227)gaC>gaT	p.D409D	KRI1_ENST00000361821.5_Silent_p.D405D	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	409	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			CGTAGTACTCGTCCCCAAAGC	0.602													A	10668901	G	A	10668901	2	1	636	1	0	0	0	0	0	0	0	1	8502	1136	40	1		1	KRI1	19	10668901	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4137752	10668901	48460082	19	51683											
CCDC105	126402	broad.mit.edu	37	chr19	15133702	15133702	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcaccgacaagctgcagtGccacatcacgtacctggaaa	12	5	11	13	2	1	0	1	0	0	0	1	2	1	1	3	2	4	4	3	2	3	1			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:15133702G>T	ENST00000292574.3	+	7	1353	c.1271G>T	c.(1270-1272)tGc>tTc	p.C424F		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	424					microtubule cytoskeleton organization	microtubule				NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						AAGCTGCAGTGCCACATCACG	0.617													T	15133702	G	T	15133702	3	4	636	1	0	0	0	0	1	0	0	0	2766	1319	46	4	1297	4	CCDC105	19	15133702	Missense_Mutation	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08	4464801	15133702	43995281	20	51684											
MRPS12	6183	broad.mit.edu	37	chr19	39423018	39423018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctacctgctccatggctaCcctgaaccagatgcaccgcc	8	7	9	17	1	0	2	0	1	0	1	1	2	1	2	6	2	5	4	6	2	3	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr19:39423018C>T	ENST00000407800.2	+	2	436	c.95C>T	c.(94-96)aCc>aTc	p.T32I	SARS2_ENST00000448145.2_Intron|MRPS12_ENST00000402029.3_Missense_Mutation_p.T32I|MRPS12_ENST00000308018.4_Missense_Mutation_p.T32I|CTC-360G5.8_ENST00000599996.1_Intron	NM_021107.1	NP_066930.1	O15235	RT12_HUMAN	mitochondrial ribosomal protein S12	32					translation	mitochondrial ribosome|small ribosomal subunit	protein binding|structural constituent of ribosome			endometrium(1)|large_intestine(1)	2	all_cancers(60;8.37e-07)|all_lung(34;3.71e-07)|Lung NSC(34;4.17e-07)|all_epithelial(25;1.13e-06)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCCATGGCTACCCTGAACCAG	0.652													T	39423018	C	T	39423018	3	4	636	1	0	0	0	0	1	0	0	0	9899	507	18	2	101	2	MRPS12	19	39423018	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	24289316	39423018	19705965	21	51685											
PABPC1L	80336	broad.mit.edu	37	chr20	43559296	43559296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcgcctctccaccatgCggaccctgagcaaccccctc	7	6	8	20	2	1	1	0	1	1	0	3	2	1	2	6	1	5	2	6	1	1	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr20:43559296C>T	ENST00000255136.3	+	8	1250	c.1168C>T	c.(1168-1170)Cgg>Tgg	p.R390W	PABPC1L_ENST00000537323.1_3'UTR|PABPC1L_ENST00000217073.2_Missense_Mutation_p.R390W|PABPC1L_ENST00000490798.1_3'UTR|PABPC1L_ENST00000217074.4_3'UTR	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	390							nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CTCCACCATGCGGACCCTGAG	0.647													T	43559296	C	T	43559296	3	4	636	1	0	0	0	0	1	0	0	0	11440	759	27	1	1198	1	PABPC1L	20	43559296	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		43559296	19466224	22	51686											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383													T	11058322	C	T	11058322	1	4	636	0	1	0	0	0	0	0	0	0	1297	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08		11058322	37071573	23	51687											
NUDT10	170685	broad.mit.edu	37	chrX	51076024	51076024	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtccgagaggtgtacgaagaGgcgggagtcaaggggaagtt	11	6	19	5	3	1	2	1	0	0	2	2	6	2	4	1	5	1	2	1	5	4	2	rs143435240	byFrequency	TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:51076024G>A	ENST00000376006.3	+	2	427	c.207G>A	c.(205-207)gaG>gaA	p.E69E	NUDT10_ENST00000356450.2_Silent_p.E69E	NM_153183.2	NP_694853.1	Q8NFP7	NUD10_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 10	69	Nudix hydrolase.					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	p.E69E(8)		cervix(1)|endometrium(8)|kidney(1)|large_intestine(1)|lung(1)|prostate(3)|upper_aerodigestive_tract(1)	16	Ovarian(276;0.236)					TGTACGAAGAGGCGGGAGTCA	0.657													A	51076024	G	A	51076024	2	1	636	1	0	0	0	0	0	0	0	1	10802	991	35	2		2	NUDT10	23	51076024	Silent	SNP	G	TCGA-P5-A5EW-01A-11D-A27K-08		51076024	104194536	24	51688											
OPHN1	4983	broad.mit.edu	37	chrX	67413796	67413796	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccacttcatttagctccacTgtttcaagcaaaggaaaaga	14	10	6	11	0	2	1	2	0	0	1	3	2	3	2	2	1	2	3	2	1	5	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:67413796T>C	ENST00000355520.5	-	14	1780		c.e14-2		OPHN1_ENST00000540071.1_Splice_Site	NM_002547.2	NP_002538.1	O60890	OPHN1_HUMAN	oligophrenin 1						axon guidance|endocytosis|filopodium assembly|small GTPase mediated signal transduction|substrate-dependent cell migration, cell extension	axon|cell junction|cytosol|dendritic spine|synapse	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(3)|skin(2)	31						TTAGCTCCACTGTTTCAAGCA	0.408													C	67413796	T	C	67413796	5	2	636	1	0	0	0	0	0	0	1	0	10951	1594	55	3	1315	3	OPHN1	23	67413796	Splice_Site	SNP	T	TCGA-P5-A5EW-01A-11D-A27K-08	16337772	67413796	87856764	25	51689											
ABCB7	22	broad.mit.edu	37	chrX	74291461	74291461	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttttcaatgaagcagtctCatacgtcttcaaaaatccat	14	13	4	10	1	4	1	3	1	2	0	6	1	5	1	1	0	2	1	1	0	5	4			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:74291461C>A	ENST00000253577.3	-	9	1117	c.1093G>T	c.(1093-1095)Gag>Tag	p.E365*	ABCB7_ENST00000534570.1_5'UTR|ABCB7_ENST00000339447.4_Nonsense_Mutation_p.E324*|ABCB7_ENST00000373394.3_Nonsense_Mutation_p.E364*	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7	364	ABC transmembrane type-1.				cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						GAAGCAGTCTCATACGTCTTC	0.333													A	74291461	C	A	74291461	4	1	636	1	0	0	0	0	0	1	0	0	46	835	29	4	1200	4	ABCB7	23	74291461	Nonsense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	6877665	74291461	80979099	26	51690											
ATRX	546	broad.mit.edu	37	chrX	76939758	76939762	+	Frame_Shift_Del	DEL	TTTCT	TTTCT	-																															ccagaacaggaatcatctaaTttcttttcttctccattaca																										TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:76939758_76939762delTTTCT	ENST00000373344.5	-	9	1200_1204	c.986_990delAGAAA	c.(985-990)aagaaafs	p.KK329fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KK291fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	329					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)	AATCATCTAATTTCTTTTCTTCTCC	0.341			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939762	TTTCT	-	76939758	7	5	636	1	0	1	0	1	0	0	0	0	1213	1490	52	0	6596	0	ATRX	23	76939758	Frame_Shift_Del	DEL	TTTCT	TCGA-P5-A5EW-01A-11D-A27K-08	2648297	76939758	78330802	27	51691											
LONRF3	79836	broad.mit.edu	37	chrX	118123490	118123490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagcaccacatgaaagaCcaggaagaagaggaggagaa	19	1	13	8	0	0	5	0	1	0	4	0	8	0	7	2	3	2	2	2	3	4	0			TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:118123490C>A	ENST00000304778.7	+	3	1219	c.1056C>A	c.(1054-1056)gaC>gaA	p.D352E	LONRF3_ENST00000422289.2_Missense_Mutation_p.D137E|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000371628.3_Missense_Mutation_p.D393E	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	393					proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						ACATGAAAGACCAGGAAGAAG	0.507													A	118123490	C	A	118123490	3	1	636	1	0	0	0	0	1	0	0	0	8966	506	18	4	1193	4	LONRF3	23	118123490	Missense_Mutation	SNP	C	TCGA-P5-A5EW-01A-11D-A27K-08	41183732	118123490	37147070	28	51692											
MAGEA6	4105	broad.mit.edu	37	chrX	151870011	151870011	+	Frame_Shift_Del	DEL	G	G	-																															gttagaggtgtttgaggggaGggaagacagtatcttcgggg																										TCGA-P5-A5EW-01A-11D-A27K-08	TCGA-P5-A5EW-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bca7013-0c0a-4de7-81a7-f120b1770c3f	e665f8dc-e32d-4c92-b2e0-bd7c101df2ec	g.chrX:151870011delG	ENST00000329342.5	+	3	926	c.701delG	c.(700-702)aggfs	p.R234fs		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	234	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TTTGAGGGGAGGGAAGACAGT	0.532													-	151870011	G	-	151870011	7	5	636	1	0	1	0	1	0	0	0	0	9243	1000	35	0	703	0	MAGEA6	23	151870011	Frame_Shift_Del	DEL	G	TCGA-P5-A5EW-01A-11D-A27K-08	33746521	151870011	3400549	29	51693											
KCND3	3752	broad.mit.edu	37	chr1	112524444	112524445	+	Frame_Shift_Ins	INS	-	-	G																															ccgcaggccctgggagtggcINSgggaaaacttgaagatcctg																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr1:112524444_112524445insG	ENST00000369697.1	-	1	973_974	c.904_905insC	c.(904-906)cgcfs	p.R302fs	KCND3_ENST00000302127.4_Frame_Shift_Ins_p.R302fs|KCND3_ENST00000315987.2_Frame_Shift_Ins_p.R302fs			Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	302						sarcolemma|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)		CTGGGAGTGGCGGGAAAACTTG	0.579													G	112524445	-	G	112524444	7	5	637	1	0	1	1	0	0	0	0	0	8078	768	27	0	1090	0	KCND3	1	112524444	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08		112524444	136726177	1	51694											
ZC3H6	376940	broad.mit.edu	37	chr2	113089666	113089666	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagggatcacggttcatcAtccacatcagagctagcaac	12	8	8	13	1	4	1	4	0	0	1	5	2	5	2	2	2	3	3	2	2	3	3			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:113089666A>G	ENST00000409871.1	+	12	3572	c.3171A>G	c.(3169-3171)tcA>tcG	p.S1057S	ZC3H6_ENST00000343936.4_Silent_p.S1057S	NM_198581.2	NP_940983.2	P61129	ZC3H6_HUMAN	zinc finger CCCH-type containing 6	1057							nucleic acid binding|zinc ion binding			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(9)|lung(12)|ovary(4)|prostate(2)	35						ACGGTTCATCATCCACATCAG	0.443													G	113089666	A	G	113089666	2	3	637	1	0	0	0	0	0	0	0	1	17672	204	8	3		3	ZC3H6	2	113089666	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08		113089666	130109707	2	51695											
TTN	7273	broad.mit.edu	37	chr2	179410161	179410161	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaagcttcgctgggctcActgttaccagctgcattcac	7	12	10	12	1	2	0	2	0	0	0	3	1	2	1	1	2	4	6	1	2	2	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:179410161A>G	ENST00000589042.1	-	344	95900	c.95676T>C	c.(95674-95676)agT>agC	p.S31892S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.S23019S|TTN_ENST00000591111.1_Silent_p.S30251S|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Silent_p.S29324S|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Silent_p.S22952S|TTN_ENST00000460472.2_Silent_p.S22827S|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	30251	Ig-like 141.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CGCTGGGCTCACTGTTACCAG	0.468													G	179410161	A	G	179410161	2	3	637	1	0	0	0	0	0	0	0	1	16837	156	6	3		3	TTN	2	179410161	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	66320495	179410161	63789212	3	51696											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	637	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08	29702951	209113112	34086261	4	51697											
CLDN11	5010	broad.mit.edu	37	chr3	170141061	170141061	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggatgggccaggagcccGgtgtggctaagtacaggcgg	7	6	18	10	3	0	0	0	0	0	0	1	2	1	2	3	7	2	2	3	7	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr3:170141061G>A	ENST00000064724.3	+	2	539	c.337G>A	c.(337-339)Ggt>Agt	p.G113S	CLDN11_ENST00000486975.1_Missense_Mutation_p.G113S|CLDN11_ENST00000451576.1_Missense_Mutation_p.G113S|CLDN11_ENST00000489485.1_3'UTR	NM_005602.5	NP_005593.2	O75508	CLD11_HUMAN	claudin 11	113					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			central_nervous_system(2)|endometrium(2)|large_intestine(1)|liver(2)|lung(3)|ovary(2)	12	all_cancers(22;5.62e-23)|all_epithelial(15;7.54e-28)|all_lung(20;2.51e-17)|Lung NSC(18;1.02e-16)|Ovarian(172;0.000567)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			CCAGGAGCCCGGTGTGGCTAA	0.602													A	170141061	G	A	170141061	3	1	637	1	0	0	0	0	1	0	0	0	3504	1116	39	1	343	1	CLDN11	3	170141061	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		170141061	27881369	5	51698											
HTT	3064	broad.mit.edu	37	chr4	3076604	3076609	+	In_Frame_Del	DEL	CAGCAG	CAGCAG	-																															tcgagtccctcaagtccttcCagcagcagcagcagcagcag																								rs71180116		TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr4:3076604_3076609delCAGCAG	ENST00000355072.5	+	1	197_202	c.52_57delCAGCAG	c.(52-57)cagcagdel	p.QQ36del		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	36	Poly-Gln.				establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		CAAGTCCTTCcagcagcagcagcagc	0.704													-	3076609	CAGCAG	-	3076604	7	5	637	1	0	1	0	1	0	0	0	0	7515	595	21	0	54	0	HTT	4	3076604	In_Frame_Del	DEL	CAGCAG	TCGA-P5-A5EX-01A-12D-A289-08		3076604	188077672	6	51699											
RREB1	6239	broad.mit.edu	37	chr6	7229901	7229901	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acggtggtggccacctccacGcccccgcctctcatcaacgc	6	6	9	20	4	2	0	2	0	1	0	4	0	3	0	6	3	1	0	6	3	1	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:7229901G>C	ENST00000379938.2	+	10	2106	c.1569G>C	c.(1567-1569)acG>acC	p.T523T	RREB1_ENST00000334984.6_Silent_p.T523T|RREB1_ENST00000379933.3_Silent_p.T523T|RREB1_ENST00000349384.6_Silent_p.T523T	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	523	Pro-rich.				multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				CCACCTCCACGCCCCCGCCTC	0.687													C	7229901	G	C	7229901	2	2	637	1	0	0	0	0	0	0	0	1	13770	1074	38	4		4	RREB1	6	7229901	Silent	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		7229901	163885166	7	51700											
NMBR	4829	broad.mit.edu	37	chr6	142397180	142397180	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttagccaggcgtttccgtgTttccatctgcaaatataaga	10	14	8	9	2	1	1	0	0	1	1	3	1	3	1	3	1	2	3	3	1	4	6			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr6:142397180T>A	ENST00000258042.1	-	3	918	c.778A>T	c.(778-780)Aca>Tca	p.T260S		NM_002511.2	NP_002502.2	P28336	NMBR_HUMAN	neuromedin B receptor	260					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	cytoplasm|integral to plasma membrane	bombesin receptor activity			breast(2)|central_nervous_system(3)|endometrium(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23	Breast(32;0.155)			OV - Ovarian serous cystadenocarcinoma(155;9.93e-06)|GBM - Glioblastoma multiforme(68;0.0013)		CGTTTCCGTGTTTCCATCTGC	0.388													A	142397180	T	A	142397180	3	1	637	1	0	0	0	0	1	0	0	0	10563	1725	60	5	398	5	NMBR	6	142397180	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	135167279	142397180	28717887	8	51701											
WIPI2	26100	broad.mit.edu	37	chr7	5256804	5256804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggagaggtgcaggtcttcGataccattaatttggtgaga	10	12	13	6	2	1	2	0	1	1	2	3	5	1	2	1	4	2	1	1	4	2	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:5256804G>A	ENST00000288828.4	+	6	794	c.562G>A	c.(562-564)Gat>Aat	p.D188N	WIPI2_ENST00000401525.3_Missense_Mutation_p.D170N|WIPI2_ENST00000404704.3_Missense_Mutation_p.D188N|WIPI2_ENST00000382384.2_Missense_Mutation_p.D170N|WIPI2_ENST00000484262.1_Missense_Mutation_p.D129N	NM_001033518.1|NM_001278299.1|NM_015610.3	NP_001028690.1|NP_001265228.1|NP_056425.1	Q9Y4P8	WIPI2_HUMAN	WD repeat domain, phosphoinositide interacting 2	188					autophagic vacuole assembly	cytosol|PAS complex|pre-autophagosomal structure membrane	phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)	16		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0925)|OV - Ovarian serous cystadenocarcinoma(56;2.59e-14)		GCAGGTCTTCGATACCATTAA	0.527													A	5256804	G	A	5256804	3	1	637	1	0	0	0	0	1	0	0	0	17473	1058	37	1	618	1	WIPI2	7	5256804	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		5256804	153881859	9	51702											
CROT	54677	broad.mit.edu	37	chr7	87005181	87005181	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtcttgatccagagaactTggctttgttagaaaaaattc	12	14	9	6	0	1	3	0	1	1	2	3	4	2	3	1	2	1	2	1	2	5	5			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:87005181T>C	ENST00000331536.3	+	9	973	c.788T>C	c.(787-789)tTg>tCg	p.L263S	CROT_ENST00000419147.2_Missense_Mutation_p.L291S|CROT_ENST00000442291.1_Missense_Mutation_p.L263S	NM_021151.3	NP_066974.2	Q9UKG9	OCTC_HUMAN	carnitine O-octanoyltransferase	263					fatty acid beta-oxidation using acyl-CoA oxidase|generation of precursor metabolites and energy|transport	peroxisomal matrix	carnitine O-octanoyltransferase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(14;0.0058)|all_lung(186;0.201)|Lung NSC(181;0.203)				L-Carnitine(DB00583)	CCAGAGAACTTGGCTTTGTTA	0.368													C	87005181	T	C	87005181	3	2	637	1	0	0	0	0	1	0	0	0	3925	1821	63	3	902	3	CROT	7	87005181	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	81748377	87005181	72133482	10	51703											
FOXP2	93986	broad.mit.edu	37	chr7	114294061	114294061	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcccaaaccatctcccaaAcctgtaagtgcatattgctt	12	10	6	13	0	1	0	0	0	1	0	2	1	1	0	4	0	5	3	4	0	4	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:114294061A>T	ENST00000393500.3	+	16	1858	c.1038A>T	c.(1036-1038)aaA>aaT	p.K346N	FOXP2_ENST00000393489.3_Missense_Mutation_p.K329N|FOXP2_ENST00000393491.3_Missense_Mutation_p.K329N|FOXP2_ENST00000390668.3_Missense_Mutation_p.K445N|FOXP2_ENST00000350908.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393498.2_Missense_Mutation_p.K400N|FOXP2_ENST00000408937.3_Missense_Mutation_p.K446N|FOXP2_ENST00000360232.4_Missense_Mutation_p.K421N|FOXP2_ENST00000393494.2_Missense_Mutation_p.K421N|FOXP2_ENST00000403559.4_Missense_Mutation_p.K438N			O15409	FOXP2_HUMAN	forkhead box P2	421					camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding			breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						CATCTCCCAAACCtgtaagtg	0.393													T	114294061	A	T	114294061	3	4	637	1	0	0	0	0	1	0	0	0	6078	40	2	5	1431	5	FOXP2	7	114294061	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	27288880	114294061	44844602	11	51704											
KEL	3792	broad.mit.edu	37	chr7	142638440	142638440	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgaggggcccgtggactcGgaggtgtggagggctgtgag	5	7	22	7	2	0	2	0	2	0	0	1	5	0	5	1	7	0	2	1	7	0	0			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr7:142638440G>A	ENST00000355265.2	-	19	2572	c.2098C>T	c.(2098-2100)Cga>Tga	p.R700*		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	700					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					CCGTGGACTCGGAGGTGTGGA	0.622													A	142638440	G	A	142638440	4	1	637	1	0	0	0	0	0	1	0	0	8200	1124	39	1	104	1	KEL	7	142638440	Nonsense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	28344379	142638440	16500223	12	51705											
KIAA1429	25962	broad.mit.edu	37	chr8	95541443	95541445	+	In_Frame_Del	DEL	TTG	TTG	-																															tcatcttcttctccttcttcTtgttgttcctcttctacttc																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr8:95541443_95541445delTTG	ENST00000297591.5	-	7	808_810	c.733_735delCAA	c.(733-735)caadel	p.Q245del	KIAA1429_ENST00000421249.2_In_Frame_Del_p.Q245del|KIAA1429_ENST00000437199.1_In_Frame_Del_p.Q245del	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	245	Glu-rich.				mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			ctccttcttcttgttgttcctct	0.438													-	95541445	TTG	-	95541443	7	5	637	1	0	1	0	1	0	0	0	0	8289	1606	56	0	4829	0	KIAA1429	8	95541443	In_Frame_Del	DEL	TTG	TCGA-P5-A5EX-01A-12D-A289-08		95541443	50822579	13	51706											
BARX1	56033	broad.mit.edu	37	chr9	96714489	96714489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctcgcccggcacctccGccggtttctctgcatccttg	2	11	11	17	4	1	0	0	0	1	0	5	0	3	0	5	3	1	4	5	3	0	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr9:96714489G>A	ENST00000253968.6	-	4	947	c.722C>T	c.(721-723)gCg>gTg	p.A241V	BARX1_ENST00000401724.1_Missense_Mutation_p.A87V	NM_021570.3	NP_067545.3	Q9HBU1	BARX1_HUMAN	BARX homeobox 1	241						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)	1						CGGCACCTCCGCCGGTTTCTC	0.682													A	96714489	G	A	96714489	3	1	637	1	0	0	0	0	1	0	0	0	1320	1087	38	1	46	1	BARX1	9	96714489	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		96714489	44498942	14	51707											
NUP98	4928	broad.mit.edu	37	chr11	3697451	3697451	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggctgcgcagttcgtccaTggcatagtcctcaggcatgg	8	9	13	11	2	1	0	1	0	0	0	4	0	3	0	2	4	1	5	2	4	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:3697451T>C	ENST00000324932.7	-	33	5761	c.5341A>G	c.(5341-5343)Atg>Gtg	p.M1781V	NUP98_ENST00000359171.4_3'UTR|NUP98_ENST00000355260.3_Missense_Mutation_p.M1707V	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1798					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AGTTCGTCCATGGCATAGTCC	0.582			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								C	3697451	T	C	3697451	3	2	637	1	0	0	0	0	1	0	0	0	10849	1464	51	3	65	3	NUP98	11	3697451	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08		3697451	131309065	15	51708											
CREBZF	58487	broad.mit.edu	37	chr11	85375242	85375244	+	In_Frame_Del	DEL	CTT	CTT	-																															tccagccccatcacgtactcCttcttcttcagtcgattaag																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr11:85375242_85375244delCTT	ENST00000527447.1	-	1	902_904	c.676_678delAAG	c.(676-678)aagdel	p.K226del	CREBZF_ENST00000398294.2_In_Frame_Del_p.K144del|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000534224.1_Intron	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	226					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.K226delK(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				TCACGTACTCCTTCTTCTTCAGT	0.665											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	85375244	CTT	-	85375242	7	5	637	1	0	1	0	1	0	0	0	0	3894	680	24	0	390	0	CREBZF	11	85375242	In_Frame_Del	DEL	CTT	TCGA-P5-A5EX-01A-12D-A289-08	81677791	85375242	49631274	16	51709											
FBXL3	26224	broad.mit.edu	37	chr13	77581815	77581815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caatgcgcaaatgttctaatCgaacatgtttttcagaagac	14	12	7	8	2	2	2	1	0	1	2	3	3	2	2	0	0	2	3	0	0	5	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr13:77581815C>T	ENST00000355619.5	-	5	1076	c.752G>A	c.(751-753)cGa>cAa	p.R251Q	FBXL3_ENST00000477982.1_Intron	NM_012158.2	NP_036290.1	Q9UKT7	FBXL3_HUMAN	F-box and leucine-rich repeat protein 3	251					regulation of circadian rhythm|rhythmic process|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|SCF ubiquitin ligase complex	protein binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|urinary_tract(1)	16		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.218)		GBM - Glioblastoma multiforme(99;0.0521)		ATGTTCTAATCGAACATGTTT	0.418													T	77581815	C	T	77581815	3	4	637	1	0	0	0	0	1	0	0	0	5769	884	31	1	538	1	FBXL3	13	77581815	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		77581815	37588063	17	51710											
KIAA1024	23251	broad.mit.edu	37	chr15	79749239	79749239	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aatgaggagccatttgtggtCcagtcctgtgtccagaaaag	11	10	12	8	0	0	2	0	1	0	1	3	3	3	3	4	2	1	0	4	2	3	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr15:79749239C>T	ENST00000305428.3	+	2	825	c.750C>T	c.(748-750)gtC>gtT	p.V250V		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	250						integral to membrane				central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						CATTTGTGGTCCAGTCCTGTG	0.473													T	79749239	C	T	79749239	2	4	637	1	0	0	0	0	0	0	0	1	8263	842	30	2		2	KIAA1024	15	79749239	Silent	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		79749239	22782153	18	51711											
MPRIP	23164	broad.mit.edu	37	chr17	17046885	17046886	+	Frame_Shift_Ins	INS	-	-	C																															acaggacttcaccaatgaagINScccccccagctcctctccca																										TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:17046885_17046886insC	ENST00000395811.5	+	9	1140_1141	c.1051_1052insC	c.(1051-1053)gccfs	p.A351fs	MPRIP_ENST00000395804.3_Frame_Shift_Ins_p.A351fs|MPRIP_ENST00000444976.1_Intron|MPRIP_ENST00000341712.4_Frame_Shift_Ins_p.A351fs	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	351	Interaction with F-actin (By similarity).					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CACCAATGAAGCCCCCCCAGCT	0.649													C	17046886	-	C	17046885	7	5	637	1	0	1	1	0	0	0	0	0	9819	971	34	0	1085	0	MPRIP	17	17046885	Frame_Shift_Ins	INS	-	TCGA-P5-A5EX-01A-12D-A289-08		17046885	64148325	19	51712											
BZRAP1	9256	broad.mit.edu	37	chr17	56388978	56388978	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcctgtgacccggacaccgTtggatgtgccagcagcatcg	8	7	13	13	3	0	1	0	1	0	0	1	3	0	3	4	2	4	3	4	2	0	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr17:56388978T>C	ENST00000355701.3	-	18	3905	c.3035A>G	c.(3034-3036)aAc>aGc	p.N1012S	BZRAP1_ENST00000268893.6_Missense_Mutation_p.N952S|BZRAP1_ENST00000343736.4_Missense_Mutation_p.N1012S	NM_001261835.1|NM_004758.3	NP_001248764.1|NP_004749.2	O95153	RIMB1_HUMAN	benzodiazapine receptor (peripheral) associated protein 1	1012	Fibronectin type-III 3.					mitochondrion	benzodiazepine receptor binding			cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|liver(2)|lung(16)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CCGGACACCGTTGGATGTGCC	0.602													C	56388978	T	C	56388978	3	2	637	1	0	0	0	0	1	0	0	0	1587	1725	60	3	2594	3	BZRAP1	17	56388978	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39342093	56388978	24806232	20	51713											
ZNF24	7572	broad.mit.edu	37	chr18	32917323	32917323	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctccccagtatggattCtctgatgattaataagcccc	9	14	7	11	0	2	2	0	2	2	0	4	3	2	3	4	1	1	2	4	1	3	5			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr18:32917323C>A	ENST00000261332.6	-	4	1159	c.980G>T	c.(979-981)aGa>aTa	p.R327I	ZNF24_ENST00000399061.3_Missense_Mutation_p.R327I|ZNF24_ENST00000589881.1_3'UTR	NM_006965.2	NP_008896.2	P17028	ZNF24_HUMAN	zinc finger protein 24	327					myelination|negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.R327I(1)		endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	15						AGTATGGATTCTCTGATGATT	0.413													A	32917323	C	A	32917323	3	1	637	1	0	0	0	0	1	0	0	0	17893	913	32	4	130	4	ZNF24	18	32917323	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		32917323	45159925	21	51714											
PRX	57716	broad.mit.edu	37	chr19	40901791	40901791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgagacctcagcacccGcctcgcctggcttgccacgt	5	8	9	19	3	1	1	1	1	0	1	3	2	2	1	6	1	2	2	6	1	0	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:40901791G>A	ENST00000324001.7	-	7	2738	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	823					axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding	p.A823V(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCAGCACCCGCCTCGCCTGG	0.587													A	40901791	G	A	40901791	3	1	637	1	0	0	0	0	1	0	0	0	12727	1087	38	1	1921	1	PRX	19	40901791	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08		40901791	18227192	22	51715											
MYBPC2	4606	broad.mit.edu	37	chr19	50965235	50965235	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgacacctctcatagaccGcgtggtcgtggctgggtact	6	10	12	13	3	1	2	1	1	1	1	3	2	1	2	3	3	1	2	3	3	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:50965235G>T	ENST00000357701.5	+	26	3221	c.3170G>T	c.(3169-3171)cGc>cTc	p.R1057L		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	1057	Ig-like C2-type 7.				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CTCATAGACCGCGTGGTCGTG	0.592											OREG0025636	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	50965235	G	T	50965235	3	4	637	1	0	0	0	0	1	0	0	0	10088	1087	38	4	3272	4	MYBPC2	19	50965235	Missense_Mutation	SNP	G	TCGA-P5-A5EX-01A-12D-A289-08	10063444	50965235	8163748	23	51716											
ZNF551	90233	broad.mit.edu	37	chr19	58197953	58197953	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacccagaaaactcacctcAgtgagattaagatgtgtgtc	13	9	8	11	0	2	3	2	1	0	3	3	4	2	3	3	0	1	0	3	0	3	1			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chr19:58197953A>G	ENST00000282296.5	+	3	495	c.310A>G	c.(310-312)Agt>Ggt	p.S104G	ZNF551_ENST00000596085.1_Intron|ZNF551_ENST00000599402.1_3'UTR|AC003006.7_ENST00000594684.1_Intron|ZNF551_ENST00000356715.4_Missense_Mutation_p.S88G|AC003006.7_ENST00000599221.1_Intron			Q7Z340	ZN551_HUMAN	zinc finger protein 551	104					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)	15		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		AACTCACCTCAGTGAGATTAA	0.478													G	58197953	A	G	58197953	3	3	637	1	0	0	0	0	1	0	0	0	18084	188	7	3	272	3	ZNF551	19	58197953	Missense_Mutation	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	7232718	58197953	931030	24	51717											
MAGEB1	4112	broad.mit.edu	37	chrX	30269583	30269583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccagtgttagagccaggCgtcgcactactgccacgact	9	8	11	13	3	0	1	0	0	0	1	2	3	1	1	3	1	3	2	3	1	2	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:30269583C>T	ENST00000378981.3	+	4	1294	c.973C>T	c.(973-975)Cgt>Tgt	p.R325C	MAGEB1_ENST00000397550.1_Missense_Mutation_p.R325C|MAGEB1_ENST00000397548.2_Missense_Mutation_p.R325C	NM_002363.4	NP_002354.2	P43366	MAGB1_HUMAN	melanoma antigen family B, 1	325								p.R325C(1)		NS(2)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(8)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	32						TAGAGCCAGGCGTCGCACTAC	0.527													T	30269583	C	T	30269583	3	4	637	1	0	0	0	0	1	0	0	0	9247	768	27	1	975	1	MAGEB1	23	30269583	Missense_Mutation	SNP	C	TCGA-P5-A5EX-01A-12D-A289-08		30269583	125000977	25	51718											
KIF4A	24137	broad.mit.edu	37	chrX	69615591	69615591	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acgccatctgaatgacctccTtgaagatagaaagatcctgg	13	9	9	10	1	1	6	0	3	1	3	3	6	3	6	4	1	0	0	4	1	4	2			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:69615591T>G	ENST00000374403.3	+	21	2385	c.2303T>G	c.(2302-2304)cTt>cGt	p.L768R	KIF4A_ENST00000374388.3_Missense_Mutation_p.L768R	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	768	Interaction with PRC1.				anterograde axon cargo transport|axon guidance|blood coagulation|organelle organization	chromosome|cytosol|midbody|nuclear matrix|spindle microtubule	ATP binding|DNA binding|microtubule motor activity|protein binding			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGACCTCCTTGAAGATAGA	0.438													G	69615591	T	G	69615591	3	3	637	1	0	0	0	0	1	0	0	0	8361	1609	56	5	2381	5	KIF4A	23	69615591	Missense_Mutation	SNP	T	TCGA-P5-A5EX-01A-12D-A289-08	39346008	69615591	85654969	26	51719											
BRWD3	254065	broad.mit.edu	37	chrX	79942476	79942476	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatcaggattacactttaaAgactgtcttctgcctcggca	10	12	8	11	1	3	1	1	0	2	1	4	2	3	2	1	2	2	2	1	2	3	4			TCGA-P5-A5EX-01A-12D-A289-08	TCGA-P5-A5EX-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	42140289-18f9-445b-9f13-4f62850e9d4c	469cfe62-ab1f-4fc4-b38e-bd8c8c9bc1b1	g.chrX:79942476A>G	ENST00000373275.4	-	35	4107	c.3891T>C	c.(3889-3891)tcT>tcC	p.S1297S	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1297										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						TACACTTTAAAGACTGTCTTC	0.383													G	79942476	A	G	79942476	2	3	637	1	0	0	0	0	0	0	0	1	1535	59	3	3		3	BRWD3	23	79942476	Silent	SNP	A	TCGA-P5-A5EX-01A-12D-A289-08	10326885	79942476	75328084	27	51720											
OR2T35	403244	broad.mit.edu	37	chr1	248801912	248801912	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggatgtgcgtgtaggaCacagagatgacagatagagg	14	6	17	4	1	0	4	0	1	0	3	0	8	0	7	0	4	1	1	0	4	2	2	rs146851066	by1000genomes	TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr1:248801912C>G	ENST00000317450.3	-	1	647	c.648G>C	c.(646-648)gtG>gtC	p.V216V		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	216					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V216V(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCGTGTAGGACACAGAGATGA	0.542													G	248801912	C	G	248801912	2	3	638	1	0	0	0	0	0	0	0	1	11102	465	17	4		4	OR2T35	1	248801912	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08		248801912	448709	1	51721											
BRAF	673	broad.mit.edu	37	chr7	140477790	140477791	+	Splice_Site	INS	-	-	CTGAGTACT																															agtaattcacacaagctcacINSctgagtactcctacttcatt																										TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr7:140477790_140477791insCTGAGTACT	ENST00000288602.6	-	12	1577_1578		c.e12+1			NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	v-raf murine sarcoma viral oncogene homolog B						activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Sorafenib(DB00398)	CACAAGCTCACCTGAGTACTCC	0.386		61	"Mis, T, O"	"AKAP9, KIAA1549"	"melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome				CTGAGTACT	140477791	-	CTGAGTACT	140477790	8	5	638	1	0	1	1	0	0	0	1	0	1505	521	18	0	810	0	BRAF	7	140477790	Splice_Site	INS	-	TCGA-P5-A5EY-01A-11D-A27K-08		140477790	18660873	2	51722											
MYH6	4624	broad.mit.edu	37	chr14	23851755	23851755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcggaacttggacaggttgGtgttggcttgctcctcctgt	4	14	14	9	1	0	0	0	0	0	0	2	2	2	2	2	5	3	4	2	5	1	4			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr14:23851755G>A	ENST00000405093.3	-	38	5748	c.5678C>T	c.(5677-5679)aCc>aTc	p.T1893I	MYH6_ENST00000356287.3_Missense_Mutation_p.T1893I	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1893					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		GGACAGGTTGGTGTTGGCTTG	0.592													A	23851755	G	A	23851755	3	1	638	1	0	0	0	0	1	0	0	0	10114	1261	44	2	149	2	MYH6	14	23851755	Missense_Mutation	SNP	G	TCGA-P5-A5EY-01A-11D-A27K-08		23851755	83497785	3	51723											
SLC6A4	6532	broad.mit.edu	37	chr17	28548857	28548857	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccattggatatttgcccGgactccactttgtcccctgg	6	13	8	14	1	0	0	0	0	0	0	2	2	2	2	5	3	2	0	5	3	2	5	rs145558656		TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr17:28548857G>A	ENST00000401766.2	-	2	632	c.120C>T	c.(118-120)tcC>tcT	p.S40S	SLC6A4_ENST00000261707.3_Silent_p.S40S			P31645	SC6A4_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 4	40					response to toxin|serotonin uptake|thalamus development	cytosol|endomembrane system|endosome membrane|membrane raft	actin filament binding|Rab GTPase binding|serotonin transmembrane transporter activity|serotonin:sodium symporter activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(4)	25					Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Desipramine(DB01151)|Dexfenfluramine(DB01191)|Dextromethorphan(DB00514)|Doxepin(DB01142)|Duloxetine(DB00476)|Escitalopram(DB01175)|Fluoxetine(DB00472)|Fluvoxamine(DB00176)|Imipramine(DB00458)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Minaprine(DB00805)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phentermine(DB00191)|Protriptyline(DB00344)|Sertraline(DB01104)|Sibutramine(DB01105)|Tegaserod(DB01079)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)|Zimelidine(DB04832)	ATATTTGCCCGGACTCCACTT	0.537													A	28548857	G	A	28548857	2	1	638	1	0	0	0	0	0	0	0	1	14780	1103	39	1		1	SLC6A4	17	28548857	Silent	SNP	G	TCGA-P5-A5EY-01A-11D-A27K-08		28548857	52646353	4	51724											
IRF3	3661	broad.mit.edu	37	chr19	50163010	50163010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtggctgttggaaatgtgCaggtccacagtattctccag	8	11	14	8	0	1	0	0	0	1	0	3	1	2	1	2	4	1	4	2	4	2	3			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr19:50163010C>T	ENST00000600911.1	-	6	1455	c.1063G>A	c.(1063-1065)Gca>Aca	p.A355T	IRF3_ENST00000377135.4_Silent_p.L266L|IRF3_ENST00000309877.7_Silent_p.L393L|IRF3_ENST00000599223.1_Silent_p.L266L|IRF3_ENST00000600022.1_Silent_p.L120L|IRF3_ENST00000599680.1_5'UTR|IRF3_ENST00000598808.1_Silent_p.L247L|IRF3_ENST00000596765.1_Silent_p.L120L|IRF3_ENST00000593922.1_Silent_p.L247L|IRF3_ENST00000599144.1_Silent_p.L247L|IRF3_ENST00000596822.1_Missense_Mutation_p.A82T|IRF3_ENST00000597198.1_Silent_p.L393L|IRF3_ENST00000601291.1_Missense_Mutation_p.A399T|IRF3_ENST00000377139.3_Silent_p.L393L			Q14653	IRF3_HUMAN	interferon regulatory factor 3	115	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGAAATGTGCAGGTCCACAG	0.617													T	50163010	C	T	50163010	3	4	638	1	0	0	0	0	1	0	0	0	7889	697	25	2	108	2	IRF3	19	50163010	Missense_Mutation	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08		50163010	8965973	5	51725											
FPR3	2359	broad.mit.edu	37	chr19	52327322	52327322	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcatgttatgatagacatCaacctgtttgtcagtgtcta	10	16	8	7	0	4	2	3	1	1	1	4	2	4	2	1	0	1	3	1	0	4	5			TCGA-P5-A5EY-01A-11D-A27K-08	TCGA-P5-A5EY-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3a5a3795-2b25-41ac-8a9c-36873f0a1a8d	5778bee3-f152-40e1-9e56-d72dc9591de0	g.chr19:52327322C>A	ENST00000339223.4	+	2	500	c.321C>A	c.(319-321)atC>atA	p.I107I	FPR3_ENST00000595991.1_Silent_p.I107I	NM_002030.3	NP_002021.3	P25089	FPR3_HUMAN	formyl peptide receptor 3	107					cellular component movement|chemotaxis	integral to membrane|plasma membrane	N-formyl peptide receptor activity			NS(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(3)	35						TGATAGACATCAACCTGTTTG	0.478													A	52327322	C	A	52327322	2	1	638	1	0	0	0	0	0	0	0	1	6091	816	29	4		4	FPR3	19	52327322	Silent	SNP	C	TCGA-P5-A5EY-01A-11D-A27K-08	2164312	52327322	6801661	6	51726											
PRAMEF10	343071	broad.mit.edu	37	chr1	12954492	12954492	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggggtagtacaggcagAggaatggagagtccaagtca	12	7	16	6	0	2	2	1	0	1	2	3	4	3	3	1	5	1	3	1	5	4	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:12954492A>G	ENST00000235347.4	-	3	870	c.791T>C	c.(790-792)cTc>cCc	p.L264P		NM_001039361.3	NP_001034450.2	O60809	PRA10_HUMAN	PRAME family member 10	264										NS(2)|breast(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	12	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		GTACAGGCAGAGGAATGGAGA	0.463													G	12954492	A	G	12954492	3	3	639	1	0	0	0	0	1	0	0	0	12508	304	11	3	641	3	PRAMEF10	1	12954492	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		12954492	236296129	1	51727											
DCAF8	50717	broad.mit.edu	37	chr1	160209956	160209956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catcattaatggagtaatgaCcagtgtcctccatgctgtca	11	12	8	10	0	2	1	2	1	0	0	4	2	4	2	3	1	1	2	3	1	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:160209956C>A	ENST00000368073.3	-	4	688	c.254G>T	c.(253-255)gGt>gTt	p.G85V	DCAF8_ENST00000608310.1_Missense_Mutation_p.G239V|DCAF8_ENST00000326837.2_Missense_Mutation_p.G85V|DCAF8_ENST00000556710.1_Missense_Mutation_p.G239V|DCAF8_ENST00000368074.1_Missense_Mutation_p.G85V|DCAF8_ENST00000610139.1_Missense_Mutation_p.G85V|DCAF8_ENST00000475733.1_Missense_Mutation_p.G85V			Q5TAQ9	DCAF8_HUMAN	DDB1 and CUL4 associated factor 8	85						CUL4 RING ubiquitin ligase complex	protein binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(16)|skin(3)|upper_aerodigestive_tract(1)	33						GGAGTAATGACCAGTGTCCTC	0.537													A	160209956	C	A	160209956	3	1	639	1	0	0	0	0	1	0	0	0	4310	507	18	4	1583	4	DCAF8	1	160209956	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	147255464	160209956	89040665	2	51728											
CNTN2	6900	broad.mit.edu	37	chr1	205042816	205042816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggagaacatggcagtcCgcccagcaccacaccctggc	9	5	12	15	1	0	1	0	0	0	1	1	2	1	1	4	4	2	2	4	4	1	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr1:205042816C>T	ENST00000331830.4	+	23	3330	c.3046C>T	c.(3046-3048)Cgc>Tgc	p.R1016C		NM_005076.3	NP_005067.1	Q02246	CNTN2_HUMAN	contactin 2 (axonal)	1016					axon guidance|clustering of voltage-gated potassium channels	anchored to membrane|juxtaparanode region of axon|myelin sheath|node of Ranvier|synapse part	identical protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(11)|lung(23)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	54	all_cancers(21;0.144)|Breast(84;0.0437)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			CATGGCAGTCCGCCCAGCACC	0.607													T	205042816	C	T	205042816	3	4	639	1	0	0	0	0	1	0	0	0	3672	652	23	1	3132	1	CNTN2	1	205042816	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	44832860	205042816	44207805	3	51729											
APOB	338	broad.mit.edu	37	chr2	21241933	21241933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctctggagctcataggttgCgctgacagaatactgctcaa	10	11	10	10	1	3	2	2	1	1	1	4	3	3	3	0	2	4	4	0	2	4	3	rs149357946	by1000genomes	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:21241933C>T	ENST00000233242.1	-	20	3179	c.3052G>A	c.(3052-3054)Gca>Aca	p.A1018T		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1018					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TCATAGGTTGCGCTGACAGAA	0.453													T	21241933	C	T	21241933	3	4	639	1	0	0	0	0	1	0	0	0	788	768	27	1	10679	1	APOB	2	21241933	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		21241933	221957440	4	51730											
OTOF	9381	broad.mit.edu	37	chr2	26688866	26688866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgtagttctccttgtcgcGgatgtcagtcttgcctagcc	5	14	11	11	2	3	0	1	0	2	0	5	2	3	1	3	1	2	2	3	1	2	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:26688866G>A	ENST00000272371.2	-	37	4705	c.4579C>T	c.(4579-4581)Cgc>Tgc	p.R1527C	OTOF_ENST00000403946.3_Missense_Mutation_p.R1527C|OTOF_ENST00000339598.3_Missense_Mutation_p.R760C|OTOF_ENST00000402415.3_Missense_Mutation_p.R837C|OTOF_ENST00000338581.6_Missense_Mutation_p.R760C	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1527	C2 4.				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTGTCGCGGATGTCAGTC	0.587													A	26688866	G	A	26688866	3	1	639	1	0	0	0	0	1	0	0	0	11379	1116	39	1	1639	1	OTOF	2	26688866	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	5446933	26688866	216510507	5	51731											
ABCG5	64240	broad.mit.edu	37	chr2	44050052	44050052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtcctgactctcctggtcGctgacagctcgcagcacggg	5	8	12	16	4	1	2	0	2	1	0	5	2	2	2	3	2	2	4	3	2	0	0	rs139361486		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:44050052G>A	ENST00000543989.1	-	6	1867	c.162C>T	c.(160-162)agC>agT	p.S54S	ABCG5_ENST00000260645.1_Silent_p.S449S|ABCG5_ENST00000405322.1_Silent_p.S278S			Q9H222	ABCG5_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 5	449	ABC transporter.				cholesterol efflux|cholesterol homeostasis|excretion|lipid metabolic process|negative regulation of intestinal cholesterol absorption|negative regulation of intestinal phytosterol absorption	apical plasma membrane|integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTCCTGGTCGCTGACAGCTC	0.567													A	44050052	G	A	44050052	2	1	639	1	0	0	0	0	0	0	0	1	71	1078	38	1		1	ABCG5	2	44050052	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	17361186	44050052	199149321	6	51732											
SLC1A4	6509	broad.mit.edu	37	chr2	65248050	65248050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttttcccaccagggacCggaccaccacggtggtgaat	8	9	10	14	2	1	1	0	1	1	0	2	3	2	3	5	4	0	0	5	4	1	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:65248050C>T	ENST00000234256.3	+	8	1612	c.1369C>T	c.(1369-1371)Cgg>Tgg	p.R457W	SLC1A4_ENST00000531327.1_Missense_Mutation_p.R159W	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	457					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	CACCAGGGACCGGACCACCAC	0.552													T	65248050	C	T	65248050	3	4	639	1	0	0	0	0	1	0	0	0	14528	643	23	1	1399	1	SLC1A4	2	65248050	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	21197998	65248050	177951323	7	51733											
SLC35F5	80255	broad.mit.edu	37	chr2	114480706	114480706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatacacatgtcagctattAtggacagaggtattgtaagg	13	11	11	6	0	1	1	1	0	0	1	1	2	1	2	0	3	2	4	0	3	5	6			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:114480706A>G	ENST00000245680.2	-	13	1729	c.1316T>C	c.(1315-1317)aTa>aCa	p.I439T	SLC35F5_ENST00000470204.2_5'UTR	NM_025181.2	NP_079457.2	Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5	439					transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						GTCAGCTATTATGGACAGAGG	0.308													G	114480706	A	G	114480706	3	3	639	1	0	0	0	0	1	0	0	0	14686	449	16	3	267	3	SLC35F5	2	114480706	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	49232656	114480706	128718667	8	51734											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	639	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	94632407	209113113	34086260	9	51735											
CXCR2	3579	broad.mit.edu	37	chr2	219000218	219000218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgatcatgctgttctgctacGgattcaccctgcgtacgctg	6	13	10	12	3	3	1	2	1	1	0	3	2	3	2	1	1	5	5	1	1	2	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219000218G>A	ENST00000318507.2	+	3	1121	c.694G>A	c.(694-696)Gga>Aga	p.G232R		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	232					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						GTTCTGCTACGGATTCACCCT	0.567													A	219000218	G	A	219000218	3	1	639	1	0	0	0	0	1	0	0	0	4124	1117	39	1	696	1	CXCR2	2	219000218	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	9887105	219000218	24199155	10	51736											
PLCD4	84812	broad.mit.edu	37	chr2	219500985	219500985	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttttaatccatactggggGcagacactatgtttccgggt	8	13	12	8	1	0	1	0	0	0	1	2	1	2	1	2	4	1	3	2	4	3	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:219500985G>C	ENST00000450993.2	+	15	2391	c.2052G>C	c.(2050-2052)ggG>ggC	p.G684G	PLCD4_ENST00000417849.1_Silent_p.G684G|PLCD4_ENST00000432688.1_Silent_p.G716G	NM_032726.3	NP_116115.1	Q9BRC7	PLCD4_HUMAN	phospholipase C, delta 4	684	C2.				intracellular signal transduction|lipid catabolic process	endoplasmic reticulum|membrane|nucleus	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(1)|urinary_tract(3)	23		Renal(207;0.0915)		Epithelial(149;5.11e-07)|all cancers(144;0.000104)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		CATACTGGGGGCAGACACTAT	0.418													C	219500985	G	C	219500985	2	2	639	1	0	0	0	0	0	0	0	1	12110	1190	42	4		4	PLCD4	2	219500985	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	500767	219500985	23698388	11	51737											
IRS1	3667	broad.mit.edu	37	chr2	227660233	227660233	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cggttaggactgaggttcacCcgggtgaaggcgctcatgcc	7	8	15	11	3	2	2	2	2	0	0	2	3	2	3	2	5	1	3	2	5	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr2:227660233C>T	ENST00000305123.5	-	1	4242	c.3222G>A	c.(3220-3222)cgG>cgA	p.R1074R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1						fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		TGAGGTTCACCCGGGTGAAGG	0.647													T	227660233	C	T	227660233	2	4	639	1	0	0	0	0	0	0	0	1	7898	610	22	2		2	IRS1	2	227660233	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	8159248	227660233	15539140	12	51738											
HRH1	3269	broad.mit.edu	37	chr3	11300958	11300958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggacttgatcgtgggtgccGtcgtcatgcctatgaacatc	7	11	12	11	4	1	2	1	2	0	0	4	3	1	3	2	2	3	0	2	2	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:11300958G>A	ENST00000397056.1	+	3	426	c.235G>A	c.(235-237)Gtc>Atc	p.V79I	HRH1_ENST00000438284.2_Missense_Mutation_p.V79I|HRH1_ENST00000431010.2_Missense_Mutation_p.V79I	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	79					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	CGTGGGTGCCGTCGTCATGCC	0.582													A	11300958	G	A	11300958	3	1	639	1	0	0	0	0	1	0	0	0	7410	1145	40	1	237	1	HRH1	3	11300958	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		11300958	186721472	13	51739											
SENP2	59343	broad.mit.edu	37	chr3	185316806	185316806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcctggaacaacatgctgAaactgggtgaggtggtcaaa	13	8	13	7	0	1	2	1	2	0	0	2	4	2	3	1	4	4	1	1	4	4	0			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:185316806A>G	ENST00000296257.5	+	4	592	c.352A>G	c.(352-354)Aaa>Gaa	p.K118E	SENP2_ENST00000427465.2_Intron|SENP2_ENST00000465201.1_3'UTR|SENP2_ENST00000545472.1_Missense_Mutation_p.K108E	NM_021627.2	NP_067640.2	Q9HC62	SENP2_HUMAN	SUMO1/sentrin/SMT3 specific peptidase 2	118					mRNA transport|protein desumoylation|protein transport|proteolysis|regulation of Wnt receptor signaling pathway|transmembrane transport|Wnt receptor signaling pathway	cytoplasm|nuclear membrane|nuclear pore	protein binding|SUMO-specific protease activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(3)	12	all_cancers(143;1.28e-10)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;1.31e-21)			CAACATGCTGAAACTGGGTGA	0.368													G	185316806	A	G	185316806	3	3	639	1	0	0	0	0	1	0	0	0	14140	247	9	3	366	3	SENP2	3	185316806	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	174015848	185316806	12705624	14	51740											
TP63	8626	broad.mit.edu	37	chr3	189586404	189586404	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgctgctttgaggcccGgatctgtgcttgcccaggaa	6	9	13	13	3	1	1	0	1	1	0	1	4	1	3	3	3	3	3	3	3	1	2	rs121908841		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr3:189586404G>T	ENST00000264731.3	+	8	1117	c.1028G>T	c.(1027-1029)cGg>cTg	p.R343L	TP63_ENST00000392463.2_Missense_Mutation_p.R249L|TP63_ENST00000456148.1_Missense_Mutation_p.R249L|TP63_ENST00000440651.2_Missense_Mutation_p.R343L|TP63_ENST00000392460.3_Missense_Mutation_p.R343L|TP63_ENST00000382063.4_Missense_Mutation_p.R258L|TP63_ENST00000418709.2_Missense_Mutation_p.R343L|TP63_ENST00000354600.5_Missense_Mutation_p.R249L|TP63_ENST00000392461.3_Missense_Mutation_p.R249L|TP63_ENST00000320472.5_Missense_Mutation_p.R343L|TP63_ENST00000437221.1_Missense_Mutation_p.R249L|TP63_ENST00000449992.1_Missense_Mutation_p.R164L	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	343			R -> Q (in EEC3).|R -> W (in EEC3).		anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R343Q(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		TTTGAGGCCCGGATCTGTGCT	0.488										HNSCC(45;0.13)			T	189586404	G	T	189586404	3	4	639	1	0	0	0	0	1	0	0	0	16493	1116	39	4	1104	4	TP63	3	189586404	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	4269598	189586404	8436026	15	51741											
KLF3	51274	broad.mit.edu	37	chr4	38690343	38690343	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagccagtggacctcacGgtgaacaagcggagttcacc	11	6	13	11	2	2	1	2	1	0	0	2	4	2	4	3	4	3	1	3	4	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:38690343G>A	ENST00000261438.5	+	3	500	c.195G>A	c.(193-195)acG>acA	p.T65T	KLF3_ENST00000514033.1_Silent_p.T65T	NM_016531.5	NP_057615.3	P57682	KLF3_HUMAN	Kruppel-like factor 3 (basic)	65	Pro-rich.|Repressor domain.				multicellular organismal development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(5)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	18						TGGACCTCACGGTGAACAAGC	0.567													A	38690343	G	A	38690343	2	1	639	1	0	0	0	0	0	0	0	1	8405	1103	39	1		1	KLF3	4	38690343	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		38690343	152463933	16	51742											
SPATA18	132671	broad.mit.edu	37	chr4	52951155	52951155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcccccgtagccaaattgGtttaaacacggtacatatct	11	12	7	11	2	1	0	0	0	1	0	1	0	1	0	3	2	4	3	3	2	6	7			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:52951155G>C	ENST00000295213.4	+	11	1927	c.1553G>C	c.(1552-1554)gGt>gCt	p.G518A	SPATA18_ENST00000419395.2_Missense_Mutation_p.G486A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	518					mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			AGCCAAATTGGTTTAAACACG	0.363													C	52951155	G	C	52951155	3	2	639	1	0	0	0	0	1	0	0	0	15099	1261	44	4	1595	4	SPATA18	4	52951155	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	14260812	52951155	138203121	17	51743											
ADH1C	126	broad.mit.edu	37	chr4	100264168	100264168	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccataacaacagataggccGacccctcccaggccaaacac	14	3	6	18	1	0	1	0	0	0	1	1	2	1	1	6	2	3	0	6	2	4	2	rs78113489		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr4:100264168G>A	ENST00000510055.1	-	0	786				ADH1C_ENST00000515683.1_RNA			P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CAGATAGGCCGACCCCTCCCA	0.438													A	100264168	G	A	100264168	1	1	639	0	1	0	0	0	0	0	0	0	309	1045	37	1		1	ADH1C	4	100264168	RNA	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	47313013	100264168	90890108	18	51744											
PDZD2	23037	broad.mit.edu	37	chr5	32072325	32072325	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccacgatgtccctggccCcttgtcagacttcatggtgg	5	11	11	14	1	2	1	2	0	0	1	3	2	3	1	4	3	1	0	4	3	0	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:32072325C>G	ENST00000438447.1	+	17	3015	c.2627C>G	c.(2626-2628)cCc>cGc	p.P876R	PDZD2_ENST00000282493.3_Missense_Mutation_p.P876R			O15018	PDZD2_HUMAN	PDZ domain containing 2	876					cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus				NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GTCCCTGGCCCCTTGTCAGAC	0.547													G	32072325	C	G	32072325	3	3	639	1	0	0	0	0	1	0	0	0	11777	623	22	4	2689	4	PDZD2	5	32072325	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		32072325	148842935	19	51745											
PCDHGA7	56108	broad.mit.edu	37	chr5	140762775	140762775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagagtgcgcggtgtctGgtaaactttaacatcctgat	9	12	11	9	2	2	2	1	1	1	1	3	2	3	2	1	2	3	2	1	2	3	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr5:140762775G>A	ENST00000518325.1	+	1	309	c.309G>A	c.(307-309)ctG>ctA	p.L103L	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1														NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGTGTCTGGTAAACTTTA	0.483													A	140762775	G	A	140762775	2	1	639	1	0	0	0	0	0	0	0	1	11635	1335	47	2		2	PCDHGA7	5	140762775	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	108690450	140762775	40152485	20	51746											
GUCA1A	2978	broad.mit.edu	37	chr6	42146546	42146546	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcttccctcccaggccattCgcgccattaacccctgcagc	6	10	6	19	2	1	0	0	0	1	0	4	0	3	0	6	1	3	1	6	1	1	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:42146546C>T	ENST00000394237.1	+	5	1334	c.358C>T	c.(358-360)Cgc>Tgc	p.R120C	GUCA1A_ENST00000053469.4_Missense_Mutation_p.R120C|GUCA1A_ENST00000372958.1_Missense_Mutation_p.R120C|GUCA1A_ENST00000541991.1_Missense_Mutation_p.R120C			P43080	GUC1A_HUMAN	guanylate cyclase activator 1A (retina)	120	EF-hand 3.				signal transduction|visual perception	membrane	calcium ion binding|calcium sensitive guanylate cyclase activator activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	7	Colorectal(47;0.196)		STAD - Stomach adenocarcinoma(11;5.54e-05)|Epithelial(12;0.000167)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CCAGGCCATTCGCGCCATTAA	0.582													T	42146546	C	T	42146546	3	4	639	1	0	0	0	0	1	0	0	0	6943	884	31	1	368	1	GUCA1A	6	42146546	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		42146546	128968521	21	51747											
SLC17A5	26503	broad.mit.edu	37	chr6	74325149	74325149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaccaagagcctaaataagGcaatgaagataaaaacccat	21	6	6	8	0	0	3	0	1	0	2	0	3	0	3	3	1	3	1	3	1	10	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:74325149G>A	ENST00000355773.5	-	8	1268	c.1000C>T	c.(1000-1002)Cct>Tct	p.P334S	SLC17A5_ENST00000393019.3_3'UTR	NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	334			P -> R (in ISSD).		anion transport	integral to plasma membrane|lysosomal membrane|membrane fraction	sialic acid:hydrogen symporter activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCTAAATAAGGCAATGAAGAT	0.353													A	74325149	G	A	74325149	3	1	639	1	0	0	0	0	1	0	0	0	14514	1203	42	2	503	2	SLC17A5	6	74325149	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	32178603	74325149	96789918	22	51748											
ROS1	6098	broad.mit.edu	37	chr6	117706989	117706989	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaaacgtcgcctttcgtgtCactgtagtagaggctgttgt	9	13	11	8	3	1	1	1	0	0	1	3	1	1	1	1	1	1	4	1	1	4	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:117706989C>G	ENST00000368508.3	-	15	2359	c.2161G>C	c.(2161-2163)Gac>Cac	p.D721H	ROS1_ENST00000368507.3_Missense_Mutation_p.D716H|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	721					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCTTTCGTGTCACTGTAGTAG	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								G	117706989	C	G	117706989	3	3	639	1	0	0	0	0	1	0	0	0	13622	826	29	4	4998	4	ROS1	6	117706989	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	43381840	117706989	53408078	23	51749											
ZDHHC14	79683	broad.mit.edu	37	chr6	158066844	158066844	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggattccacacctacttgatCagctccaaccagacaacaaa	15	7	5	14	0	1	2	1	1	0	1	3	3	3	3	4	1	4	1	4	1	4	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr6:158066844C>T	ENST00000359775.5	+	6	1717	c.828C>T	c.(826-828)atC>atT	p.I276I	ZDHHC14_ENST00000341375.8_3'UTR|ZDHHC14_ENST00000414563.2_Silent_p.I276I			Q8IZN3	ZDH14_HUMAN	zinc finger, DHHC-type containing 14	276						integral to membrane	acyltransferase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)	17		Breast(66;0.00586)|Ovarian(120;0.123)		OV - Ovarian serous cystadenocarcinoma(65;2.9e-17)|BRCA - Breast invasive adenocarcinoma(81;5.8e-05)		CCTACTTGATCAGCTCCAACC	0.527													T	158066844	C	T	158066844	2	4	639	1	0	0	0	0	0	0	0	1	17705	816	29	2		2	ZDHHC14	6	158066844	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	40359855	158066844	13048223	24	51750											
DNAH11	8701	broad.mit.edu	37	chr7	21640731	21640731	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcctttcaaagtgagctTgttaaccataattaagaaat	16	12	7	6	0	1	2	1	1	0	1	1	3	1	2	2	0	3	2	2	0	6	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:21640731T>C	ENST00000328843.6	+	17	3390	c.3359T>C	c.(3358-3360)tTg>tCg	p.L1120S	DNAH11_ENST00000409508.3_Missense_Mutation_p.L1120S			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1120	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						AAAGTGAGCTTGTTAACCATA	0.353									Kartagener syndrome				C	21640731	T	C	21640731	3	2	639	1	0	0	0	0	1	0	0	0	4638	1821	63	3	3425	3	DNAH11	7	21640731	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		21640731	137497932	25	51751											
AUTS2	26053	broad.mit.edu	37	chr7	70227916	70227916	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggatgcagggccgattgTccccaagatatcgggtctag	9	8	13	11	2	1	1	0	0	1	1	3	3	2	2	4	3	1	1	4	3	3	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr7:70227916T>C	ENST00000342771.4	+	7	1124	c.803T>C	c.(802-804)gTc>gCc	p.V268A	AUTS2_ENST00000406775.2_Missense_Mutation_p.V268A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	268										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GGGCCGATTGTCCCCAAGATA	0.537													C	70227916	T	C	70227916	3	2	639	1	0	0	0	0	1	0	0	0	1230	1667	58	3	974	3	AUTS2	7	70227916	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	48587185	70227916	88910747	26	51752											
ESRP1	54845	broad.mit.edu	37	chr8	95680362	95680362	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtaggccaacaggggacGcttttgtcctctttgcctgt	6	13	12	10	1	1	0	0	0	1	0	2	1	2	1	3	4	2	2	3	4	2	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr8:95680362G>A	ENST00000433389.2	+	10	1307	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ESRP1_ENST00000358397.5_Missense_Mutation_p.A373T|ESRP1_ENST00000454170.2_Missense_Mutation_p.A373T|ESRP1_ENST00000423620.2_Missense_Mutation_p.A373T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	373	RRM 2.				mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						AACAGGGGACGCTTTTGTCCT	0.483													A	95680362	G	A	95680362	3	1	639	1	0	0	0	0	1	0	0	0	5299	1087	38	1	1155	1	ESRP1	8	95680362	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		95680362	50683660	27	51753											
ELAVL2	1993	broad.mit.edu	37	chr9	23701564	23701564	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcttcttctgcctcaattcGcttgtcaaatcgaataaacc	11	13	5	12	2	4	0	2	0	2	0	6	1	4	0	2	0	3	2	2	0	5	5			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr9:23701564G>A	ENST00000397312.2	-	5	800	c.526C>T	c.(526-528)Cga>Tga	p.R176*	ELAVL2_ENST00000544538.1_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380110.4_Nonsense_Mutation_p.R205*|ELAVL2_ENST00000223951.6_Nonsense_Mutation_p.R176*|ELAVL2_ENST00000380117.1_Nonsense_Mutation_p.R176*	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	176	RRM 2.				regulation of transcription, DNA-dependent		mRNA 3'-UTR binding|nucleotide binding|protein binding	p.R176*(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GCCTCAATTCGCTTGTCAAAT	0.443													A	23701564	G	A	23701564	4	1	639	1	0	0	0	0	0	1	0	0	5091	1095	38	1	565	1	ELAVL2	9	23701564	Nonsense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		23701564	117511867	28	51754											
FBXW4	6468	broad.mit.edu	37	chr10	103433381	103433381	+	Frame_Shift_Del	DEL	C	C	-																															gtaggccaggatgaaattagCctgggatatgtacagagaat																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:103433381delC	ENST00000331272.7	-	3	1024	c.406delG	c.(406-408)gctfs	p.A136fs		NM_022039.3	NP_071322.1	P57775	FBXW4_HUMAN	F-box and WD repeat domain containing 4	136					ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway	ubiquitin ligase complex				breast(3)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	15		Colorectal(252;0.123)		Epithelial(162;4.35e-08)|all cancers(201;1.92e-06)		ATGAAATTAGCCTGGGATATG	0.458													-	103433381	C	-	103433381	7	5	639	1	0	1	0	1	0	0	0	0	5816	739	26	0	860	0	FBXW4	10	103433381	Frame_Shift_Del	DEL	C	TCGA-P5-A5EZ-01A-11D-A27K-08		103433381	32101366	29	51755											
KNDC1	85442	broad.mit.edu	37	chr10	135024204	135024204	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcacttcctcctcgAccgcatcaacagcacgctga	8	9	6	18	3	1	1	1	1	0	0	5	2	4	1	4	0	3	4	4	0	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr10:135024204A>G	ENST00000304613.3	+	21	3905	c.3884A>G	c.(3883-3885)gAc>gGc	p.D1295G	KNDC1_ENST00000368572.2_Missense_Mutation_p.D1297G			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	1295	N-terminal Ras-GEF.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		TTCCTCCTCGACCGCATCAAC	0.627													G	135024204	A	G	135024204	3	3	639	1	0	0	0	0	1	0	0	0	8484	275	10	3	3966	3	KNDC1	10	135024204	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08	31590823	135024204	510543	30	51756											
TTC17	55761	broad.mit.edu	37	chr11	43515339	43515339	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggaagaatttgaaaaagCactggtgtggtatgaatcca	16	9	11	5	0	0	3	0	2	0	1	1	4	1	4	1	3	1	2	1	3	6	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:43515339C>T	ENST00000039989.4	+	24	3325	c.3311C>T	c.(3310-3312)gCa>gTa	p.A1104V		NM_018259.5	NP_060729.2	Q96AE7	TTC17_HUMAN	tetratricopeptide repeat domain 17	1104							binding			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(27)|ovary(5)|prostate(3)|skin(3)	53						TTTGAAAAAGCACTGGTGTGG	0.463													T	43515339	C	T	43515339	3	4	639	1	0	0	0	0	1	0	0	0	16786	710	25	2	3405	2	TTC17	11	43515339	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		43515339	91491177	31	51757											
OR9G1	390174	broad.mit.edu	37	chr11	56468248	56468248	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggccatctccaagcccCtgctttatgcccaggccatg	7	9	9	16	1	1	0	0	0	1	0	2	0	1	0	6	2	3	1	6	2	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:56468248C>G	ENST00000312153.1	+	1	385	c.385C>G	c.(385-387)Ctg>Gtg	p.L129V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						CTCCAAGCCCCTGCTTTATGC	0.512													G	56468248	C	G	56468248	3	3	639	1	0	0	0	0	1	0	0	0	11326	680	24	4	387	4	OR9G1	11	56468248	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	12952909	56468248	78538268	32	51758											
TTC12	54970	broad.mit.edu	37	chr11	113211422	113211422	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcagaatgcacaatggatTtagtatcatcagtgacaacg	15	11	8	7	1	3	2	3	1	0	1	3	3	3	3	0	1	2	2	0	1	5	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr11:113211422T>A	ENST00000393020.1	+	11	1268	c.863T>A	c.(862-864)tTt>tAt	p.F288Y	TTC12_ENST00000483239.2_Missense_Mutation_p.F294Y|TTC12_ENST00000529221.1_Missense_Mutation_p.F288Y|TTC12_ENST00000314756.3_Missense_Mutation_p.F288Y			Q9H892	TTC12_HUMAN	tetratricopeptide repeat domain 12	288							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		all_cancers(61;2.73e-16)|all_epithelial(67;8.64e-10)|Melanoma(852;1.46e-05)|all_hematologic(158;0.00014)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Prostate(24;0.183)|Renal(330;0.187)		BRCA - Breast invasive adenocarcinoma(274;5.3e-06)|Epithelial(105;8.37e-05)|all cancers(92;0.000694)		CACAATGGATTTAGTATCATC	0.438													A	113211422	T	A	113211422	3	1	639	1	0	0	0	0	1	0	0	0	16781	1841	64	5	901	5	TTC12	11	113211422	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	56743174	113211422	21795094	33	51759											
WNK1	65125	broad.mit.edu	37	chr12	993858	993859	+	Frame_Shift_Del	DEL	CT	CT	-																															cctggaatgaacttgtctcaCtctgcatcatcccttagtct																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:993858_993859delCT	ENST00000537687.1	+	19	5311_5312	c.4668_4669delCT	c.(4666-4671)cactctfs	p.S1557fs	WNK1_ENST00000340908.4_Frame_Shift_Del_p.S890fs|WNK1_ENST00000535572.1_Frame_Shift_Del_p.S1050fs|WNK1_ENST00000315939.6_Frame_Shift_Del_p.S1297fs|WNK1_ENST00000530271.2_Frame_Shift_Del_p.S1795fs	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1297					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			ACTTGTCTCACTCTGCATCATC	0.431													-	993859	CT	-	993858	7	5	639	1	0	1	0	1	0	0	0	0	17479	564	20	0	5464	0	WNK1	12	993858	Frame_Shift_Del	DEL	CT	TCGA-P5-A5EZ-01A-11D-A27K-08		993858	132858037	34	51760											
NCAPD2	9918	broad.mit.edu	37	chr12	6635636	6635636	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttgtccacccagacccactCtggatcccattcaaagaggt	10	10	7	14	0	2	2	1	0	1	2	4	3	4	3	4	2	0	0	4	2	1	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr12:6635636C>G	ENST00000315579.5	+	21	3388	c.2589C>G	c.(2587-2589)ctC>ctG	p.L863L	NCAPD2_ENST00000545962.1_Silent_p.L818L|NCAPD2_ENST00000542492.1_3'UTR	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	863					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CAGACCCACTCTGGATCCCAT	0.552													G	6635636	C	G	6635636	2	3	639	1	0	0	0	0	0	0	0	1	10281	900	32	4		4	NCAPD2	12	6635636	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	5641778	6635636	127216259	35	51761											
RCBTB1	55213	broad.mit.edu	37	chr13	50134077	50134077	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccatcagctgccagagccaTtgaatgatgtgagccacaag	12	8	10	11	0	1	4	1	3	0	1	2	4	2	4	4	0	4	1	4	0	2	1	rs147650879	byFrequency	TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr13:50134077T>C	ENST00000378302.2	-	5	681	c.421A>G	c.(421-423)Atg>Gtg	p.M141V	RCBTB1_ENST00000546015.1_Missense_Mutation_p.M141V|RCBTB1_ENST00000258646.3_Missense_Mutation_p.M141V	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	141					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		GCCAGAGCCATTGAATGATGT	0.413													C	50134077	T	C	50134077	3	2	639	1	0	0	0	0	1	0	0	0	13259	1493	52	3	1210	3	RCBTB1	13	50134077	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08		50134077	65035801	36	51762											
TEP1	7011	broad.mit.edu	37	chr14	20854643	20854643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcctcagtgacgccccagcGgaggtcgattccgtgaaggc	7	7	13	14	4	1	2	1	2	0	0	4	4	3	3	4	3	1	0	4	3	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:20854643G>A	ENST00000262715.5	-	19	2864	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	TEP1_ENST00000556935.1_Missense_Mutation_p.R834C	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	942					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ACGCCCCAGCGGAGGTCGATT	0.657													A	20854643	G	A	20854643	3	1	639	1	0	0	0	0	1	0	0	0	15859	1116	39	1	5207	1	TEP1	14	20854643	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		20854643	86494897	37	51763											
PRMT5	10419	broad.mit.edu	37	chr14	23395475	23395475	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gccagcgatcaatgacatgaTtagatgggaggtcagcccca	12	7	12	10	1	2	3	2	2	0	1	2	5	2	4	3	2	2	0	3	2	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:23395475T>C	ENST00000324366.8	-	7	867	c.644A>G	c.(643-645)aAt>aGt	p.N215S	PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000397440.4_Intron|PRMT5_ENST00000397441.2_Missense_Mutation_p.N198S|PRMT5_ENST00000553897.1_Missense_Mutation_p.N171S|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.N154S|PRMT5_ENST00000538452.1_Missense_Mutation_p.N109S	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	215					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AATGACATGATTAGATGGGAG	0.473													C	23395475	T	C	23395475	3	2	639	1	0	0	0	0	1	0	0	0	12625	1493	52	3	1313	3	PRMT5	14	23395475	Missense_Mutation	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	2540832	23395475	83954065	38	51764											
SERPINA3	12	broad.mit.edu	37	chr14	95085593	95085593	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcaaggttctacttgagcaaGaaaaagtgggtaatggtgcc	13	10	12	6	0	2	2	1	1	1	1	2	2	2	2	1	3	3	3	1	3	6	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr14:95085593G>C	ENST00000467132.1	+	3	1853	c.705G>C	c.(703-705)aaG>aaC	p.K235N	SERPINA3_ENST00000393080.4_Missense_Mutation_p.K235N|SERPINA3_ENST00000482740.1_Missense_Mutation_p.K17N|RP11-986E7.7_ENST00000553947.1_3'UTR|SERPINA3_ENST00000393078.3_Missense_Mutation_p.K235N			P01011	AACT_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3	235					acute-phase response|maintenance of gastrointestinal epithelium|regulation of lipid metabolic process|regulation of proteolysis	extracellular region|nucleus	DNA binding|protein binding|serine-type endopeptidase inhibitor activity			NS(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(17)|ovary(2)|pancreas(1)|skin(3)|stomach(1)	40		all_cancers(154;0.0525)|all_epithelial(191;0.179)		COAD - Colon adenocarcinoma(157;0.212)|Epithelial(152;0.228)		ACTTGAGCAAGAAAAAGTGGG	0.507													C	95085593	G	C	95085593	3	2	639	1	0	0	0	0	1	0	0	0	14183	933	33	4	711	4	SERPINA3	14	95085593	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	71690118	95085593	12263947	39	51765											
CDH13	1012	broad.mit.edu	37	chr16	83251008	83251009	+	Frame_Shift_Del	DEL	AT	AT	-																															gctcactggaaagggagtggAtcaagagcctaaaggaattt																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr16:83251008_83251009delAT	ENST00000566620.1	+	5	832_833	c.542_543delAT	c.(541-543)gatfs	p.D181fs	CDH13_ENST00000569454.1_3'UTR|CDH13_ENST00000428848.3_Frame_Shift_Del_p.D142fs|CDH13_ENST00000268613.10_Frame_Shift_Del_p.D228fs	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	181	Cadherin 1.				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)		AAGGGAGTGGATCAAGAGCCTA	0.455													-	83251009	AT	-	83251008	7	5	639	1	0	1	0	1	0	0	0	0	3129	333	12	0	560	0	CDH13	16	83251008	Frame_Shift_Del	DEL	AT	TCGA-P5-A5EZ-01A-11D-A27K-08		83251008	7103745	40	51766											
TP53	7157	broad.mit.edu	37	chr17	7578213	7578213	+	Frame_Shift_Del	DEL	A	A	-																															ggcaccaccacactatgtcgAaaagtgtttctgtcatccaa																										TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:7578213delA	ENST00000420246.2	-	6	768	c.636delT	c.(634-636)tttfs	p.F212fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F212fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.F212fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F212fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	212	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		F -> I (in sporadic cancers; somatic mutation).|F -> L (in sporadic cancers; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).|F -> Y (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.0?(8)|p.F212fs*3(6)|p.?(5)|p.R213fs*35(3)|p.F212L(2)|p.D208fs*1(1)|p.R209_R213delRNTFR(1)|p.F119fs*3(1)|p.T211fs*28(1)|p.D207_R213delDDRNTFR(1)|p.D207_V216del10(1)|p.T211_S215delTFRHS(1)|p.F80fs*3(1)|p.R120fs*35(1)|p.R209fs*6(1)|p.R81fs*>11(1)|p.D208_V216delDRNTFRHSV(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)		CACTATGTCGAAAAGTGTTTC	0.532		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)			-	7578213	A	-	7578213	7	5	639	1	0	1	0	1	0	0	0	0	16482	243	9	0	658	0	TP53	17	7578213	Frame_Shift_Del	DEL	A	TCGA-P5-A5EZ-01A-11D-A27K-08		7578213	73616997	41	51767											
CCR7	1236	broad.mit.edu	37	chr17	38711204	38711204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggccaggctgtaggtgacGtcgtaggcgatgttgagttg	7	10	17	7	3	0	2	0	2	0	0	1	3	0	2	1	4	0	5	1	4	2	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:38711204G>A	ENST00000246657.2	-	3	989	c.927C>T	c.(925-927)gaC>gaT	p.D309D	CCR7_ENST00000579344.1_Silent_p.D303D	NM_001838.3	NP_001829.1	P32248	CCR7_HUMAN	chemokine (C-C motif) receptor 7	309					cell maturation|immunological synapse formation|inflammatory response|interleukin-12 secretion|lymphocyte migration into lymph node|positive regulation of dendritic cell antigen processing and presentation|positive regulation of glycoprotein biosynthetic process|positive regulation of humoral immune response|positive regulation of hypersensitivity|positive regulation of interleukin-12 production|positive regulation of neutrophil chemotaxis|regulation of interferon-gamma production|regulation of interleukin-1 beta secretion|T cell costimulation	integral to membrane|intracellular	C-C chemokine receptor activity|chemokine (C-C motif) ligand 19 binding|chemokine (C-C motif) ligand 21 binding			breast(1)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		Breast(137;0.000496)				TGTAGGTGACGTCGTAGGCGA	0.567													A	38711204	G	A	38711204	2	1	639	1	0	0	0	0	0	0	0	1	2976	1136	40	1		1	CCR7	17	38711204	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	31132991	38711204	42484006	42	51768											
KRT37	8688	broad.mit.edu	37	chr17	39579137	39579137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccaggagcttctgcgtccCgcacttgtccgcctccacca	6	9	8	18	3	1	0	0	0	1	0	5	1	5	1	6	1	2	2	6	1	0	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr17:39579137C>T	ENST00000225550.3	-	3	624	c.625G>A	c.(625-627)Ggg>Agg	p.G209R	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	209	Coil 1B.|Rod.					intermediate filament	structural molecule activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TTCTGCGTCCCGCACTTGTCC	0.627													T	39579137	C	T	39579137	3	4	639	1	0	0	0	0	1	0	0	0	8532	652	23	1	744	1	KRT37	17	39579137	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	867933	39579137	41616073	43	51769											
TJP3	27134	broad.mit.edu	37	chr19	3730650	3730650	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttaagcggctgccacggcagGacgtgcagatgaagcctgtg	9	7	15	10	3	0	2	0	1	0	1	0	3	0	3	2	3	4	3	2	3	2	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:3730650G>T	ENST00000541714.2	+	5	1021	c.559G>T	c.(559-561)Gac>Tac	p.D187Y	TJP3_ENST00000587686.1_Missense_Mutation_p.D206Y|TJP3_ENST00000262968.9_Missense_Mutation_p.D206Y|TJP3_ENST00000382008.3_Missense_Mutation_p.D187Y|TJP3_ENST00000539908.2_Missense_Mutation_p.D151Y|TJP3_ENST00000589378.1_Missense_Mutation_p.D196Y	NM_001267560.1	NP_001254489.1	O95049	ZO3_HUMAN	tight junction protein 3	187						tight junction	protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	26				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0118)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCACGGCAGGACGTGCAGAT	0.657													T	3730650	G	T	3730650	3	4	639	1	0	0	0	0	1	0	0	0	16031	1174	41	4	630	4	TJP3	19	3730650	Missense_Mutation	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08		3730650	55398333	44	51770											
MUC16	94025	broad.mit.edu	37	chr19	9075050	9075050	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaaagagagtggtcttctcTgagtatgtaaatctctgagt	11	14	10	6	0	3	3	0	2	3	1	5	4	3	3	0	1	0	2	0	1	5	4			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr19:9075050T>A	ENST00000397910.4	-	3	12599	c.12396A>T	c.(12394-12396)tcA>tcT	p.S4132S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4134	Ser-rich.|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						TGGTCTTCTCTGAGTATGTAA	0.517													A	9075050	T	A	9075050	2	1	639	1	0	0	0	0	0	0	0	1	10049	1567	55	5		5	MUC16	19	9075050	Silent	SNP	T	TCGA-P5-A5EZ-01A-11D-A27K-08	5344400	9075050	50053933	45	51771											
C20orf26	26074	broad.mit.edu	37	chr20	20056252	20056252	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcctcagctgcacgttcgcAaagccaggtacagttggagt	10	9	11	11	2	1	0	1	0	0	0	3	1	2	1	2	2	4	6	2	2	2	3			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:20056252A>C	ENST00000245957.5	+	6	635	c.559A>C	c.(559-561)Aaa>Caa	p.K187Q	C20orf26_ENST00000377306.1_Missense_Mutation_p.K187Q|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Missense_Mutation_p.K187Q	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	187										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		GCACGTTCGCAAAGCCAGGTA	0.478													C	20056252	A	C	20056252	3	2	639	1	0	0	0	0	1	0	0	0	2127	131	5	5	577	5	C20orf26	20	20056252	Missense_Mutation	SNP	A	TCGA-P5-A5EZ-01A-11D-A27K-08		20056252	42969268	46	51772											
HCK	3055	broad.mit.edu	37	chr20	30659555	30659555	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcccacactgtcctgtgtaCgtgccggatcccacatccac	8	8	8	17	2	0	0	0	0	0	0	3	1	3	1	5	1	3	1	5	1	1	1	rs112610391		TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr20:30659555C>T	ENST00000534862.1	+	3	456	c.93C>T	c.(91-93)taC>taT	p.Y31Y	HCK_ENST00000520553.1_Silent_p.Y30Y|HCK_ENST00000375862.2_Silent_p.Y51Y|HCK_ENST00000375852.2_Silent_p.Y51Y|HCK_ENST00000538448.1_Silent_p.Y30Y|HCK_ENST00000518730.1_Silent_p.Y30Y	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	51					interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			GTCCTGTGTACGTGCCGGATC	0.582													T	30659555	C	T	30659555	2	4	639	1	0	0	0	0	0	0	0	1	7049	547	19	1		1	HCK	20	30659555	Silent	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08	10603303	30659555	32365965	47	51773											
HIRA	7290	broad.mit.edu	37	chr22	19365445	19365445	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactggcagccaccacaggCtctgtgcaaggcttcgaggc	8	6	13	14	1	1	0	0	0	1	0	2	1	1	0	2	4	2	5	2	4	1	1			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:19365445C>G	ENST00000263208.5	-	14	1816	c.1560G>C	c.(1558-1560)gaG>gaC	p.E520D	HIRA_ENST00000541063.1_Missense_Mutation_p.E476D|HIRA_ENST00000546308.1_Missense_Mutation_p.E476D|HIRA_ENST00000340170.4_Missense_Mutation_p.E520D	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	520	Interaction with CCNA1.				chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCACCACAGGCTCTGTGCAAG	0.582													G	19365445	C	G	19365445	3	3	639	1	0	0	0	0	1	0	0	0	7175	796	28	4	1541	4	HIRA	22	19365445	Missense_Mutation	SNP	C	TCGA-P5-A5EZ-01A-11D-A27K-08		19365445	31939121	48	51774											
LIMK2	3985	broad.mit.edu	37	chr22	31663038	31663038	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgatgtgatgaggagacccaGaaaacttttctgactgaggt	12	10	12	7	1	1	6	0	4	1	2	1	8	1	6	1	2	1	0	1	2	2	2			TCGA-P5-A5EZ-01A-11D-A27K-08	TCGA-P5-A5EZ-10A-01D-A27N-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a028455b-b422-4e51-ae03-779cfd854c13	b40a9126-a33f-4ad3-b610-5a6a51bcbd25	g.chr22:31663038G>A	ENST00000331728.4	+	9	1224	c.1110G>A	c.(1108-1110)caG>caA	p.Q370Q	LIMK2_ENST00000340552.4_Silent_p.Q349Q|LIMK2_ENST00000444929.2_Silent_p.Q124Q|LIMK2_ENST00000333611.4_Silent_p.Q349Q|LIMK2_ENST00000406516.1_Silent_p.Q292Q	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	370	Protein kinase.					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						AGGAGACCCAGAAAACTTTTC	0.473													A	31663038	G	A	31663038	2	1	639	1	0	0	0	0	0	0	0	1	8862	933	33	2		2	LIMK2	22	31663038	Silent	SNP	G	TCGA-P5-A5EZ-01A-11D-A27K-08	12297593	31663038	19641528	49	51775											
HRNR	388697	broad.mit.edu	37	chr1	152191766	152191766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccctgaactggacccatgtCggacacggctaggagagtgg	9	6	15	11	2	0	2	0	1	0	1	1	5	0	4	2	5	1	1	2	5	2	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:152191766C>T	ENST00000368801.2	-	3	2414	c.2339G>A	c.(2338-2340)cGa>cAa	p.R780Q	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	780					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGACCCATGTCGGACACGGCT	0.602													T	152191766	C	T	152191766	3	4	640	1	0	0	0	0	1	0	0	0	7414	884	31	1	6217	1	HRNR	1	152191766	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		152191766	97058855	1	51776											
MUC1	4582	broad.mit.edu	37	chr1	155161799	155161799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacatcgtgggctggcggggTggtggagcccagggctggcc	4	6	21	10	2	0	0	0	0	0	0	1	2	0	1	2	8	1	2	2	8	0	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:155161799T>G	ENST00000368395.1	-	2	405	c.334A>C	c.(334-336)Acc>Ccc	p.T112P	MUC1_ENST00000342482.4_Intron|MUC1_ENST00000343256.5_Intron|MUC1_ENST00000368393.3_Intron|MUC1_ENST00000457295.2_Intron|MUC1_ENST00000438413.1_Intron|MUC1_ENST00000338684.5_Intron|MUC1_ENST00000337604.5_Intron|MUC1_ENST00000462215.1_Intron|MUC1_ENST00000368398.3_Intron|MUC1_ENST00000368396.4_Intron|MUC1_ENST00000368392.3_Intron|MUC1_ENST00000368389.2_Intron|MUC1_ENST00000368390.3_Intron	NM_001204285.1|NM_001204286.1	NP_001191214.1|NP_001191215.1	P15941	MUC1_HUMAN	mucin 1, cell surface associated	892						apical plasma membrane|cell surface|cytoplasm|extracellular region|integral to plasma membrane|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|skin(2)	10	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;5.31e-10)|all cancers(21;2.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GCTGGCGGGGTGGTGGAGCCC	0.711			T	IGH@	B-NHL								G	155161799	T	G	155161799	3	3	640	1	0	0	0	0	1	0	0	0	10046	1711	59	5		5	MUC1	1	155161799	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	2970033	155161799	94088822	2	51777											
SEC16B	89866	broad.mit.edu	37	chr1	177936856	177936856	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgataaccaccttcgtaataGtcaactccagacacaggctg	13	8	7	13	2	1	1	1	0	0	1	3	2	2	1	3	1	2	2	3	1	4	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:177936856G>A	ENST00000308284.6	-	2	350	c.261C>T	c.(259-261)gaC>gaT	p.D87D	SEC16B_ENST00000464631.2_Silent_p.D87D|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	87	Required for endoplasmic reticulum localization.				protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						CTTCGTAATAGTCAACTCCAG	0.517													A	177936856	G	A	177936856	2	1	640	1	0	0	0	0	0	0	0	1	14080	1020	36	2		2	SEC16B	1	177936856	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	22775057	177936856	71313765	3	51778											
NLRP3	114548	broad.mit.edu	37	chr1	247588165	247588165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggctctgctctttggctGcagatggaatctggaaccag	7	10	15	9	0	3	1	0	0	3	1	3	3	3	3	1	5	3	4	1	5	2	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr1:247588165G>A	ENST00000366497.2	+	4	2200	c.1420G>A	c.(1420-1422)Gca>Aca	p.A474T	NLRP3_ENST00000474792.1_3'UTR|NLRP3_ENST00000348069.2_Missense_Mutation_p.A474T|NLRP3_ENST00000391827.2_Missense_Mutation_p.A474T|NLRP3_ENST00000366496.2_Missense_Mutation_p.A474T|NLRP3_ENST00000336119.3_Missense_Mutation_p.A474T|NLRP3_ENST00000391828.3_Missense_Mutation_p.A474T	NM_001127461.2	NP_001120933.1	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	474	NACHT.				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			CTCTTTGGCTGCAGATGGAAT	0.582													A	247588165	G	A	247588165	3	1	640	1	0	0	0	0	1	0	0	0	10554	1319	46	2	1430	2	NLRP3	1	247588165	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	69651309	247588165	1662456	4	51779											
HADHA	3030	broad.mit.edu	37	chr2	26426943	26426943	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcttaccctttgaacactTgttgctgtcctcggtctagc	6	14	9	12	1	1	1	0	1	1	0	3	1	2	1	2	2	4	3	2	2	3	5			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:26426943T>A	ENST00000380649.3	-	12	1337	c.1208A>T	c.(1207-1209)cAa>cTa	p.Q403L		NM_000182.4	NP_000173.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit	403					fatty acid beta-oxidation	fatty acid beta-oxidation multienzyme complex|mitochondrial nucleoid|nucleolus	3-hydroxyacyl-CoA dehydrogenase activity|acetyl-CoA C-acetyltransferase activity|coenzyme binding|enoyl-CoA hydratase activity|long-chain-3-hydroxyacyl-CoA dehydrogenase activity|protein binding			autonomic_ganglia(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(4)|skin(1)	30	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				NADH(DB00157)	TTTGAACACTTGTTGCTGTCC	0.483													A	26426943	T	A	26426943	3	1	640	1	0	0	0	0	1	0	0	0	6998	1812	63	5	1119	5	HADHA	2	26426943	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08		26426943	216772430	5	51780											
DNAH6	1768	broad.mit.edu	37	chr2	84784902	84784902	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcactgtcaaaacactgtgtTatcagttcctaatctcgtgc	10	14	6	11	1	4	0	3	0	1	0	6	0	5	0	1	0	2	2	1	0	4	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:84784902T>G	ENST00000389394.3	+	11	1783	c.1646T>G	c.(1645-1647)tTa>tGa	p.L549*	DNAH6_ENST00000237449.6_Nonsense_Mutation_p.L549*|DNAH6_ENST00000398278.2_Nonsense_Mutation_p.L549*	NM_001370.1	NP_001361.1	Q9C0G6	DYH6_HUMAN	dynein, axonemal, heavy chain 6	549	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|breast(9)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(3)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	57						AACACTGTGTTATCAGTTCCT	0.343													G	84784902	T	G	84784902	4	3	640	1	0	0	0	0	0	1	0	0	4644	1764	61	5	1684	5	DNAH6	2	84784902	Nonsense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	58357959	84784902	158414471	6	51781											
USP39	10713	broad.mit.edu	37	chr2	85843529	85843529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttctgttgtcccgtttgtgCgggtgaagcgggagcgcgag	4	11	17	9	5	1	1	0	1	1	0	2	3	2	2	1	2	3	2	1	2	1	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:85843529C>T	ENST00000323701.6	+	1	221	c.211C>T	c.(211-213)Cgg>Tgg	p.R71W	USP39_ENST00000459775.1_Intron|USP39_ENST00000450066.2_Intron|USP39_ENST00000409470.1_Missense_Mutation_p.R71W|USP39_ENST00000409025.1_Missense_Mutation_p.R71W|USP39_ENST00000409766.3_Missense_Mutation_p.R71W	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	71	Arg-rich.				spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						CCCGTTTGTGCGGGTGAAGCG	0.726													T	85843529	C	T	85843529	3	4	640	1	0	0	0	0	1	0	0	0	17172	759	27	1	213	1	USP39	2	85843529	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	1058627	85843529	157355844	7	51782											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	640	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	123269583	209113112	34086261	8	51783											
EPHA4	2043	broad.mit.edu	37	chr2	222301821	222301821	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccattctccatgtactctGttatgatcattactggttta	9	17	6	9	0	3	1	1	1	2	0	4	1	3	1	2	1	3	3	2	1	4	6			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr2:222301821G>T	ENST00000281821.2	-	12	2137	c.2096C>A	c.(2095-2097)aCa>aAa	p.T699K	EPHA4_ENST00000409854.1_Missense_Mutation_p.T699K|EPHA4_ENST00000392071.4_Missense_Mutation_p.T648K|EPHA4_ENST00000409938.1_Missense_Mutation_p.T699K	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	699	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		CATGTACTCTGTTATGATCAT	0.378													T	222301821	G	T	222301821	3	4	640	1	0	0	0	0	1	0	0	0	5210	1377	48	4	888	4	EPHA4	2	222301821	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	13188709	222301821	20897552	9	51784											
GPR15	2838	broad.mit.edu	37	chr3	98251295	98251295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggccattgtgtggccagtcGtatccaggaaattcagaagg	10	10	13	8	1	1	1	1	0	0	1	3	2	2	2	3	4	0	1	3	4	3	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:98251295G>A	ENST00000284311.3	+	1	553	c.418G>A	c.(418-420)Gta>Ata	p.V140I		NM_005290.1	NP_005281.1	P49685	GPR15_HUMAN	G protein-coupled receptor 15	140						integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(1)|kidney(3)|large_intestine(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Lung NSC(201;7.93e-06)|all_neural(597;0.00172)|Hepatocellular(537;0.00825)|Myeloproliferative disorder(1037;0.0255)		Lung(72;0.246)		GTGGCCAGTCGTATCCAGGAA	0.522													A	98251295	G	A	98251295	3	1	640	1	0	0	0	0	1	0	0	0	6709	1145	40	1	420	1	GPR15	3	98251295	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		98251295	99771135	10	51785											
CEP63	80254	broad.mit.edu	37	chr3	134277174	134277174	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagaacaactgagttcaAgaatacagagttcaagtaaa	19	7	8	7	0	2	4	2	1	0	3	2	4	2	4	0	0	4	4	0	0	8	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:134277174A>T	ENST00000337090.3	+	13	1831	c.1658A>T	c.(1657-1659)aAg>aTg	p.K553M	CEP63_ENST00000513612.2_Missense_Mutation_p.K553M|CEP63_ENST00000383229.3_Intron|CEP63_ENST00000606977.1_Missense_Mutation_p.K553M|CEP63_ENST00000354446.3_Intron|CEP63_ENST00000332047.5_Intron			Q96MT8	CEP63_HUMAN	centrosomal protein 63kDa	553					cell division|DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitosis|signal transduction in response to DNA damage|spindle assembly	centrosome|cytosol|spindle pole	protein binding			kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACTGAGTTCAAGAATACAGAG	0.289													T	134277174	A	T	134277174	3	4	640	1	0	0	0	0	1	0	0	0	3287	72	3	5	1704	5	CEP63	3	134277174	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	36025879	134277174	63745256	11	51786											
PIK3CA	5290	broad.mit.edu	37	chr3	178917478	178917478	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttatgtaattttattaaagGttttgctatcggcatgccag	10	18	8	5	1	0	0	0	0	0	0	1	0	0	0	1	2	2	4	1	2	6	9			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr3:178917478G>A	ENST00000263967.3	+	3	510	c.353G>A	c.(352-354)gGt>gAt	p.G118D		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	118					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G118D(26)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTATTAAAGGTTTTGCTATC	0.338		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178917478	G	A	178917478	5	1	640	1	0	0	0	0	0	0	1	0	11990	1275	44	2	359	2	PIK3CA	3	178917478	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	44640304	178917478	19104952	12	51787											
TSSK1B	83942	broad.mit.edu	37	chr5	112770050	112770050	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcgaccactgtcatcccGcaggcagcgcttggagaagc	9	7	11	14	3	1	1	1	0	0	1	3	3	2	1	2	2	2	3	2	2	1	2	rs139028259	by1000genomes	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:112770050G>A	ENST00000390666.3	-	1	678	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	CTD-2201G3.1_ENST00000416046.2_RNA|CTD-2201G3.1_ENST00000383058.4_RNA|MCC_ENST00000408903.3_Intron	NM_032028.3	NP_114417.1	Q9BXA7	TSSK1_HUMAN	testis-specific serine kinase 1B	163	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding|magnesium ion binding|protein serine/threonine kinase activity			large_intestine(8)|ovary(2)|skin(2)|stomach(1)	13		all_cancers(142;0.0138)|all_epithelial(76;0.000445)|Colorectal(10;0.00814)|Prostate(80;0.0115)|Ovarian(225;0.156)		Epithelial(69;4.15e-08)|OV - Ovarian serous cystadenocarcinoma(64;4.49e-08)|all cancers(49;3.2e-06)|COAD - Colon adenocarcinoma(37;0.0371)|Colorectal(14;0.0449)		CTGTCATCCCGCAGGCAGCGC	0.577													A	112770050	G	A	112770050	3	1	640	1	0	0	0	0	1	0	0	0	16769	1086	38	1	620	1	TSSK1B	5	112770050	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		112770050	68145210	13	51788											
SEMA6A	57556	broad.mit.edu	37	chr5	115813739	115813739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcccatatcgttcacaccgGccaaggggaacctttatcac	10	10	7	14	2	2	0	2	0	0	0	4	1	3	1	4	3	1	1	4	3	4	5			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:115813739G>A	ENST00000343348.6	-	14	2326	c.1539C>T	c.(1537-1539)ggC>ggT	p.G513G	CTB-118N6.3_ENST00000508640.1_RNA|CTB-118N6.3_ENST00000510682.1_RNA|SEMA6A_ENST00000510263.1_Silent_p.G513G|CTB-118N6.3_ENST00000514214.1_RNA|SEMA6A_ENST00000282394.6_Silent_p.G45G|SEMA6A_ENST00000257414.8_Silent_p.G513G	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	513					apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		GTTCACACCGGCCAAGGGGAA	0.463													A	115813739	G	A	115813739	2	1	640	1	0	0	0	0	0	0	0	1	14132	1190	42	2		2	SEMA6A	5	115813739	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	3043689	115813739	65101521	14	51789											
PCDHAC1	56135	broad.mit.edu	37	chr5	140306487	140306487	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagagggaggatggtgggcTgtggggtggcagttttatgt	6	12	20	3	0	0	1	0	0	0	1	0	3	0	3	0	7	0	3	0	7	2	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr5:140306487T>C	ENST00000253807.2	+	1	10	c.10T>C	c.(10-12)Tgt>Cgt	p.C4R	PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C4R|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGGTGGGCTGTGGGGTGGC	0.647													C	140306487	T	C	140306487	3	2	640	1	0	0	0	0	1	0	0	0	11608	1580	55	3	12	3	PCDHAC1	5	140306487	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	24492748	140306487	40608773	15	51790											
HIST1H3G	8355	broad.mit.edu	37	chr6	26271605	26271605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgtgcagtctgcttggtgCgggccatctcagactacctg	5	11	13	12	2	2	1	1	0	2	1	3	1	2	1	2	2	5	2	2	2	1	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:26271605C>T	ENST00000305910.3	-	1	7	c.8G>A	c.(7-9)cGc>cAc	p.R3H		NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	3					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CTGCTTGGTGCGGGCCATCTC	0.562													T	26271605	C	T	26271605	3	4	640	1	0	0	0	0	1	0	0	0	7216	768	27	1	406	1	HIST1H3G	6	26271605	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		26271605	144843462	16	51791											
UTRN	7402	broad.mit.edu	37	chr6	144835787	144835787	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgttttcttataattagcGtttagtatctgagctggatg	8	19	10	4	1	2	1	0	1	2	0	2	2	2	2	0	1	2	4	0	1	5	8			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr6:144835787G>T	ENST00000367545.3	+	36	5075	c.5075G>T	c.(5074-5076)cGt>cTt	p.R1692L		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1692	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TATAATTAGCGTTTAGTATCT	0.388													T	144835787	G	T	144835787	5	4	640	1	0	0	0	0	0	0	1	0	17205	1159	40	4	5217	4	UTRN	6	144835787	Splice_Site	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	118564182	144835787	26279280	17	51792											
PSPH	5723	broad.mit.edu	37	chr7	56084931	56084931	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgttaacatcttaccgttAaagtagaatttcagcctatt	13	15	5	8	1	2	1	1	0	1	1	2	1	2	1	2	0	3	3	2	0	7	7			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:56084931A>C	ENST00000395471.3	-	6	1222	c.417T>G	c.(415-417)ttT>ttG	p.F139L	PSPH_ENST00000275605.3_Missense_Mutation_p.F139L|PSPH_ENST00000459834.1_Intron			P78330	SERB_HUMAN	phosphoserine phosphatase	139					L-serine biosynthetic process	cytoplasm	calcium ion binding|magnesium ion binding|phosphoserine phosphatase activity|protein homodimerization activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(1)|skin(1)	11	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TCTTACCGTTAAAGTAGAATT	0.383													C	56084931	A	C	56084931	3	2	640	1	0	0	0	0	1	0	0	0	12802	359	13	5	272	5	PSPH	7	56084931	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		56084931	103053732	18	51793											
GNAI1	2770	broad.mit.edu	37	chr7	79842082	79842082	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcatatgtaacaacaaGtggtttacagatacatccat	16	10	7	8	0	0	1	0	0	0	1	1	2	1	1	1	1	5	3	1	1	6	5			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr7:79842082G>C	ENST00000351004.3	+	7	1144	c.771G>C	c.(769-771)aaG>aaC	p.K257N	GNAI1_ENST00000457358.2_Missense_Mutation_p.K205N	NM_002069.5	NP_002060.4	P63096	GNAI1_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 1	257					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody|nucleus	G-protein beta/gamma-subunit complex binding|GTP binding|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	19						GTAACAACAAGTGGTTTACAG	0.323													C	79842082	G	C	79842082	3	2	640	1	0	0	0	0	1	0	0	0	6560	1020	36	4	797	4	GNAI1	7	79842082	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	23757151	79842082	79296581	19	51794											
PKN3	29941	broad.mit.edu	37	chr9	131479035	131479035	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctcctgtagcctgtactgCgagaagcggatcctggaggc	7	9	13	12	2	1	1	0	0	1	1	3	4	2	3	3	3	4	2	3	3	3	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:131479035C>G	ENST00000291906.4	+	16	2211	c.1818C>G	c.(1816-1818)tgC>tgG	p.C606W	PKN3_ENST00000485301.1_3'UTR	NM_013355.3	NP_037487.2	Q6P5Z2	PKN3_HUMAN	protein kinase N3	606	Protein kinase.				signal transduction	Golgi apparatus|nucleus|perinuclear region of cytoplasm	ATP binding|protein binding|protein kinase C activity			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24						GCCTGTACTGCGAGAAGCGGA	0.602													G	131479035	C	G	131479035	3	3	640	1	0	0	0	0	1	0	0	0	12058	776	27	4	1880	4	PKN3	9	131479035	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		131479035	9734396	20	51795											
NOTCH1	4851	broad.mit.edu	37	chr9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-																															cacgggttcgagacgcactcGttgacgtcgatctcgcatcg																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGACGCACTCGTTGACGTCGATC	0.66			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139412285	GTT	-	139412283	7	5	640	1	0	1	0	1	0	0	0	0	10623	1136	40	0	6413	0	NOTCH1	9	139412283	In_Frame_Del	DEL	GTT	TCGA-P5-A5F0-01A-11D-A289-08	7933248	139412283	1801148	21	51796											
ITIH5	80760	broad.mit.edu	37	chr10	7679258	7679258	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctccagggatgcgatgccCgcgctctccaggatattcac	8	8	10	15	3	2	0	1	0	1	0	4	3	3	2	4	2	2	1	4	2	1	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr10:7679258C>T	ENST00000256861.6	-	5	663	c.585G>A	c.(583-585)gcG>gcA	p.A195A	ITIH5_ENST00000446830.2_5'UTR|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.A195A|ITIH5_ENST00000397145.2_Silent_p.A195A	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	195					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						ATGCGATGCCCGCGCTCTCCA	0.657													T	7679258	C	T	7679258	2	4	640	1	0	0	0	0	0	0	0	1	7965	639	23	1		1	ITIH5	10	7679258	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		7679258	127855489	22	51797											
TEAD1	7003	broad.mit.edu	37	chr11	12883803	12883803	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttctttctttcaggtaggaAtgaattgatagccagataca	12	14	8	7	0	3	3	1	2	2	1	3	4	3	4	1	2	2	1	1	2	5	7			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:12883803A>G	ENST00000361905.4	+	4	829	c.164A>G	c.(163-165)aAt>aGt	p.N55S	TEAD1_ENST00000334310.6_Missense_Mutation_p.N55S|TEAD1_ENST00000361985.2_Missense_Mutation_p.N70S|TEAD1_ENST00000527636.1_Missense_Mutation_p.N70S|TEAD1_ENST00000527575.1_Missense_Mutation_p.N70S	NM_021961.5	NP_068780.2	P28347	TEAD1_HUMAN	TEA domain family member 1 (SV40 transcriptional enhancer factor)	70					hippo signaling cascade		DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)	17				Epithelial(150;0.00223)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TCAGGTAGGAATGAATTGATA	0.403													G	12883803	A	G	12883803	3	3	640	1	0	0	0	0	1	0	0	0	15838	101	4	3	215	3	TEAD1	11	12883803	Missense_Mutation	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08		12883803	122122713	23	51798											
OR4C16	219428	broad.mit.edu	37	chr11	55339694	55339694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtttgttatttttttgCgtctctacttgggaacactg	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	4	8			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:55339694C>T	ENST00000314634.3	+	1	91	c.91C>T	c.(91-93)Cgt>Tgt	p.R31C		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31					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)				TATTTTTTTGCGTCTCTACTT	0.373													T	55339694	C	T	55339694	3	4	640	1	0	0	0	0	1	0	0	0	11125	768	27	1	93	1	OR4C16	11	55339694	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	42455891	55339694	79666822	24	51799											
MMP10	4319	broad.mit.edu	37	chr11	102649942	102649942	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggatgctttatttgattAcctttaactgcaaaagagat	14	15	7	5	0	0	2	0	1	0	1	0	4	0	3	1	1	4	2	1	1	6	6			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:102649942A>G	ENST00000279441.4	-	3	533		c.e3+1			NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)						collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		TTATTTGATTACCTTTAACTG	0.373													G	102649942	A	G	102649942	5	3	640	1	0	0	0	0	0	0	1	0	9724	405	14	3	964	3	MMP10	11	102649942	Splice_Site	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	47310248	102649942	32356574	25	51800											
POU2AF1	5450	broad.mit.edu	37	chr11	111229622	111229622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtatggccgggccggggctGgggcttgctccggagctgtg	2	8	21	10	3	0	0	0	0	0	0	1	1	1	1	3	8	2	5	3	8	1	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr11:111229622G>A	ENST00000393067.3	-	2	552	c.38C>T	c.(37-39)cCa>cTa	p.P13L		NM_006235.2	NP_006226.2	Q16633	OBF1_HUMAN	POU class 2 associating factor 1	13					humoral immune response|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|kidney(2)|lung(2)	5		all_cancers(61;1.36e-12)|all_epithelial(67;1.87e-07)|Melanoma(852;1.46e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|all_neural(223;0.0146)|Medulloblastoma(222;0.0245)|Breast(348;0.0389)		Epithelial(105;1.01e-06)|BRCA - Breast invasive adenocarcinoma(274;3.12e-06)|all cancers(92;1.8e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0364)		GGCCGGGGCTGGGGCTTGCTC	0.632			T	BCL6	NHL								A	111229622	G	A	111229622	3	1	640	1	0	0	0	0	1	0	0	0	12347	1348	47	2	748	2	POU2AF1	11	111229622	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	8579680	111229622	23776894	26	51801											
CD163L1	283316	broad.mit.edu	37	chr12	7526163	7526163	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacgctgccccaggtcccGttatagaagacttccaatct	9	9	8	15	3	1	2	0	0	1	2	3	3	3	2	5	1	1	2	5	1	4	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:7526163G>A	ENST00000313599.3	-	14	3540	c.3483C>T	c.(3481-3483)aaC>aaT	p.N1161N	CD163L1_ENST00000396630.1_Silent_p.N1161N|CD163L1_ENST00000416109.2_Silent_p.N1171N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1161	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCCAGGTCCCGTTATAGAAGA	0.512													A	7526163	G	A	7526163	2	1	640	1	0	0	0	0	0	0	0	1	2998	1136	40	1		1	CD163L1	12	7526163	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		7526163	126325732	27	51802											
A2ML1	144568	broad.mit.edu	37	chr12	8976368	8976368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccacaatccgggtgtcggGagttggaaataacatcagct	11	8	13	9	2	1	0	1	0	0	0	3	2	2	2	2	4	2	2	2	4	3	2			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr12:8976368G>A	ENST00000299698.7	+	3	479	c.299G>A	c.(298-300)gGa>gAa	p.G100E	A2ML1-AS1_ENST00000537288.1_RNA	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	0						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						CGGGTGTCGGGAGTTGGAAAT	0.527													A	8976368	G	A	8976368	3	1	640	1	0	0	0	0	1	0	0	0	5	1174	41	2	309	2	A2ML1	12	8976368	Missense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	1450205	8976368	124875527	28	51803											
SPATA13	221178	broad.mit.edu	37	chr13	24858319	24858319	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgccttagtggatgacaaCggtagtgaggaggacttcag	10	10	14	7	1	2	2	1	2	1	0	2	5	2	5	1	4	2	1	1	4	3	3			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr13:24858319C>G	ENST00000424834.2	+	7	2684	c.2211C>G	c.(2209-2211)aaC>aaG	p.N737K	RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.N615K|SPATA13_ENST00000382108.3_Missense_Mutation_p.N737K|SPATA13_ENST00000343003.6_Missense_Mutation_p.N56K|SPATA13_ENST00000409126.1_Missense_Mutation_p.N34K|SPATA13_ENST00000382095.4_Missense_Mutation_p.N112K|SPATA13_ENST00000399949.2_Missense_Mutation_p.N34K			Q96N96	SPT13_HUMAN	spermatogenesis associated 13	112					cell migration|filopodium assembly|lamellipodium assembly|regulation of cell migration|regulation of Rho protein signal transduction	cytoplasm|filopodium|lamellipodium|ruffle membrane	protein binding|Rac guanyl-nucleotide exchange factor activity			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		TGGATGACAACGgtagtgagg	0.493													G	24858319	C	G	24858319	3	3	640	1	0	0	0	0	1	0	0	0	15096	535	19	4	2225	4	SPATA13	13	24858319	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		24858319	90311559	29	51804											
USP8	9101	broad.mit.edu	37	chr15	50769066	50769066	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagtaaaactgtcctGcgcaatgagcctttggtttt	10	13	11	7	1	0	1	0	1	0	0	1	2	1	2	2	2	3	3	2	2	4	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr15:50769066G>C	ENST00000433963.1	+	10	1370	c.870G>C	c.(868-870)ctG>ctC	p.L290L	USP8_ENST00000307179.4_Silent_p.L290L|USP8_ENST00000425032.3_Silent_p.L213L|USP8_ENST00000396444.3_Silent_p.L290L			P40818	UBP8_HUMAN	ubiquitin specific peptidase 8	290	Rhodanese.				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		AAACTGTCCTGCGCAATGAGC	0.393													C	50769066	G	C	50769066	2	2	640	1	0	0	0	0	0	0	0	1	17191	1306	46	4		4	USP8	15	50769066	Silent	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08		50769066	51762326	30	51805											
PLK1	5347	broad.mit.edu	37	chr16	23695207	23695207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagcacatcaaccccgtggCcgcctccctcatccagaaga	10	5	7	19	2	2	2	2	0	0	2	4	2	4	2	7	1	2	1	7	1	2	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:23695207C>G	ENST00000300093.4	+	5	944	c.833C>G	c.(832-834)gCc>gGc	p.A278G		NM_005030.3	NP_005021.2	P53350	PLK1_HUMAN	polo-like kinase 1	278	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G2/M transition DNA damage checkpoint|G2/M transition of mitotic cell cycle|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic prophase|negative regulation of cyclin-dependent protein kinase activity|peptidyl-serine phosphorylation|positive regulation of peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|protein localization to chromatin|protein ubiquitination|regulation of mitotic anaphase|regulation of protein binding	centrosome|condensed nuclear chromosome outer kinetochore|cytosol|nucleoplasm|spindle microtubule|spindle midzone|spindle pole	anaphase-promoting complex binding|ATP binding|polo kinase kinase activity|protein kinase binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(48;0.0156)		AACCCCGTGGCCGCCTCCCTC	0.557													G	23695207	C	G	23695207	3	3	640	1	0	0	0	0	1	0	0	0	12171	739	26	4	851	4	PLK1	16	23695207	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		23695207	66659546	31	51806											
PKD1L2	114780	broad.mit.edu	37	chr16	81155068	81155069	+	RNA	INS	-	-	A																															ggtgacagagactccatctcINSaaaaaaaaaaaggaaaaaat																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr16:81155068_81155069insA	ENST00000525539.1	-	0	6611				PKD1L2_ENST00000534142.1_RNA|PKD1L2_ENST00000533478.1_RNA	NM_052892.3	NP_443124.3	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						gactccatctcaaaaaaaaaaa	0.525													A	81155069	-	A	81155068	6	5	640	0	1	1	1	0	0	0	0	0	12042	841	29	0		0	PKD1L2	16	81155068	RNA	INS	-	TCGA-P5-A5F0-01A-11D-A289-08	57459861	81155068	9199685	32	51807											
NACA2	342538	broad.mit.edu	37	chr17	59668211	59668211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagcagggctcttgtagaCgtccagttttgtgatgacaa	10	11	12	8	2	1	3	0	2	1	1	2	4	2	3	1	1	1	4	1	1	3	4			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr17:59668211C>T	ENST00000521764.1	-	1	352	c.331G>A	c.(331-333)Gtc>Atc	p.V111I		NM_199290.3	NP_954984.1	Q9H009	NACA2_HUMAN	nascent polypeptide-associated complex alpha subunit 2	111	NAC-A/B.				protein transport	cytoplasm|nucleus				large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	12	all_epithelial(1;3.12e-14)					CTCTTGTAGACGTCCAGTTTT	0.443													T	59668211	C	T	59668211	3	4	640	1	0	0	0	0	1	0	0	0	10210	536	19	1	320	1	NACA2	17	59668211	Missense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		59668211	21526999	33	51808											
GRAMD1A	57655	broad.mit.edu	37	chr19	35504508	35504508	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcctcgggggcagctgaCcgcagccaggagccaagccc	8	3	13	17	2	0	1	0	1	0	0	2	2	1	2	6	3	4	3	6	3	1	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:35504508C>T	ENST00000599564.1	+	10	1115	c.1044C>T	c.(1042-1044)gaC>gaT	p.D348D	GRAMD1A_ENST00000317991.5_Silent_p.D261D|GRAMD1A_ENST00000411896.2_Silent_p.D254D|GRAMD1A_ENST00000504615.2_Silent_p.D27D			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	261						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			GGGCAGCTGACCGCAGCCAGG	0.662													T	35504508	C	T	35504508	2	4	640	1	0	0	0	0	0	0	0	1	6802	506	18	2		2	GRAMD1A	19	35504508	Silent	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08		35504508	23624475	34	51809											
CIC	23152	broad.mit.edu	37	chr19	42791828	42791828	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagatcctgggcgagtggtgGtatgccctggggcccaagga	8	7	17	9	1	0	1	0	0	0	1	1	3	1	2	3	6	1	1	3	6	3	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42791828G>A	ENST00000572681.2	+	6	3509	c.3441G>A	c.(3439-3441)tgG>tgA	p.W1147*	CIC_ENST00000575354.2_Nonsense_Mutation_p.W238*|CIC_ENST00000160740.3_Nonsense_Mutation_p.W238*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	238	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCGAGTGGTGGTATGCCCTGG	0.617			"Mis, F, S"		oligodendroglioma								A	42791828	G	A	42791828	4	1	640	1	0	0	0	0	0	1	0	0	3454	1270	44	2	732	2	CIC	19	42791828	Nonsense_Mutation	SNP	G	TCGA-P5-A5F0-01A-11D-A289-08	7287320	42791828	16337155	35	51810			1	81		3	3	5052	N	G_C_A	2.227202e-05
CIC	23152	broad.mit.edu	37	chr19	42795615	42795615	+	Frame_Shift_Del	DEL	A	A	-																															taccctccgccccaccccccAaaggtgagacctgggccggg																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42795615delA	ENST00000572681.2	+	11	5490	c.5422delA	c.(5422-5424)aaafs	p.K1808fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K899fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K899fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	899					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCCACCCCCCAAAGGTGAGAC	0.617			"Mis, F, S"		oligodendroglioma								-	42795615	A	-	42795615	7	5	640	1	0	1	0	1	0	0	0	0	3454	131	5	0	2733	0	CIC	19	42795615	Frame_Shift_Del	DEL	A	TCGA-P5-A5F0-01A-11D-A289-08	3787	42795615	16333368	36	51811			1	81		3	3	5052	N	G_C_A	2.227202e-05
CIC	23152	broad.mit.edu	37	chr19	42796879	42796879	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccctggcccagccatccCaggcccccccaagcctggtc	6	4	8	23	0	0	0	0	0	0	0	2	0	1	0	9	3	2	0	9	3	1	0			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:42796879C>T	ENST00000572681.2	+	15	6129	c.6061C>T	c.(6061-6063)Cag>Tag	p.Q2021*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q1113*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q1112*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1113					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCAGCCATCCCAGGCCCCCCC	0.682			"Mis, F, S"		oligodendroglioma								T	42796879	C	T	42796879	4	4	640	1	0	0	0	0	0	1	0	0	3454	595	21	2	3391	2	CIC	19	42796879	Nonsense_Mutation	SNP	C	TCGA-P5-A5F0-01A-11D-A289-08	1264	42796879	16332104	37	51812			1	81		3	3	5052	N	G_C_A	2.227202e-05
ZNF285	26974	broad.mit.edu	37	chr19	44892085	44892085	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctgcccactcttcacTgagggaaacatcttctaaat	12	11	6	12	0	4	1	1	1	3	0	4	2	4	2	2	1	3	0	2	1	4	3	rs79240579	by1000genomes	TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:44892085T>A	ENST00000330997.4	-	4	386	c.322A>T	c.(322-324)Agt>Tgt	p.S108C	ZNF285_ENST00000544719.2_Missense_Mutation_p.S108C|ZNF285_ENST00000591679.1_Missense_Mutation_p.S115C|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						CACTCTTCACTGAGGGAAACA	0.393													A	44892085	T	A	44892085	3	1	640	1	0	0	0	0	1	0	0	0	17923	1580	55	5	1454	5	ZNF285	19	44892085	Missense_Mutation	SNP	T	TCGA-P5-A5F0-01A-11D-A289-08	2095206	44892085	14236898	38	51813											
FGF21	26291	broad.mit.edu	37	chr19	49261318	49261318	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccacaccgggaccctgcAccccgaggaccagctcgctt	7	5	9	20	3	0	0	0	0	0	0	2	3	1	2	7	2	2	3	7	2	0	1			TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr19:49261318A>C	ENST00000593756.1	+	4	1043	c.471A>C	c.(469-471)gcA>gcC	p.A157A	FGF21_ENST00000222157.3_Silent_p.A157A			Q9NSA1	FGF21_HUMAN	fibroblast growth factor 21	157					cell-cell signaling|positive regulation of ERK1 and ERK2 cascade|positive regulation of glucose import	extracellular region|soluble fraction	growth factor activity			breast(1)|cervix(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	8		all_lung(116;1.7e-06)|all_epithelial(76;3.52e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000134)|all cancers(93;0.000348)|Epithelial(262;0.019)|GBM - Glioblastoma multiforme(486;0.022)		GGGACCCTGCACCCCGAGGAC	0.682													C	49261318	A	C	49261318	2	2	640	1	0	0	0	0	0	0	0	1	5899	146	6	5		5	FGF21	19	49261318	Silent	SNP	A	TCGA-P5-A5F0-01A-11D-A289-08	4369233	49261318	9867665	39	51814											
CCT8L2	150160	broad.mit.edu	37	chr22	17072572	17072576	+	Frame_Shift_Del	DEL	ATTCC	ATTCC	-																															ccaacaccactgccacattaAttcctgcagctgctagctgg																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chr22:17072572_17072576delATTCC	ENST00000359963.3	-	1	1124_1128	c.865_869delGGAAT	c.(865-870)ggaattfs	p.GI289fs		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	289					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				TGCCACATTAATTCCTGCAGCTGCT	0.507													-	17072576	ATTCC	-	17072572	7	5	640	1	0	1	0	1	0	0	0	0	2991	101	4	0	808	0	CCT8L2	22	17072572	Frame_Shift_Del	DEL	ATTCC	TCGA-P5-A5F0-01A-11D-A289-08		17072572	34231994	40	51815											
ZFX	7543	broad.mit.edu	37	chrX	24229107	24229109	+	In_Frame_Del	DEL	AAG	AAG	-																															ttcacaggccttcagaactcAagaaacacgtggctgcccac																										TCGA-P5-A5F0-01A-11D-A289-08	TCGA-P5-A5F0-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1edcbd6b-d64f-453b-8e9e-c1fbf6d99cf4	a5d89ce8-081f-4b72-993d-47b28b7bf6e3	g.chrX:24229107_24229109delAAG	ENST00000379177.1	+	11	2459_2461	c.2032_2034delAAG	c.(2032-2034)aagdel	p.K679del	ZFX_ENST00000540034.1_In_Frame_Del_p.K718del|ZFX_ENST00000539115.1_In_Frame_Del_p.K450del|ZFX_ENST00000379188.3_In_Frame_Del_p.K679del|ZFX_ENST00000338565.3_In_Frame_Del_p.K629del|ZFX_ENST00000304543.5_In_Frame_Del_p.K679del	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	679					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						TTCAGAACTCAAGAAACACGTGG	0.424													-	24229109	AAG	-	24229107	7	5	640	1	0	1	0	1	0	0	0	0	17762	131	5	0	2117	0	ZFX	23	24229107	In_Frame_Del	DEL	AAG	TCGA-P5-A5F0-01A-11D-A289-08		24229107	131041453	41	51816											
CR1	1378	broad.mit.edu	37	chr1	207679428	207679428	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgctaaggacaggtgcagaCgtaagtaactctggagtggg	11	8	16	6	1	1	1	0	0	1	1	1	3	1	3	0	4	3	4	0	4	3	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr1:207679428C>T	ENST00000367049.4	+	2	301	c.301C>T	c.(301-303)Cgt>Tgt	p.R101C	CR1_ENST00000400960.2_Splice_Site_p.R101C|CR1_ENST00000367050.4_3'UTR|CR1_ENST00000367052.1_Splice_Site_p.R101C|CR1_ENST00000367053.1_Splice_Site_p.R101C|CR1_ENST00000367051.1_Splice_Site_p.R101C	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	101	Sushi 1.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CAGGTGCAGACGTAAGTAACT	0.418													T	207679428	C	T	207679428	5	4	641	1	0	0	0	0	0	0	1	0	3871	550	19	1	307	1	CR1	1	207679428	Splice_Site	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08		207679428	41571193	1	51817											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													G	74757186	-	G	74757185	7	5	641	1	0	1	1	0	0	0	0	0	7512	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		74757185	168442188	2	51818											
TTN	7273	broad.mit.edu	37	chr2	179412203	179412203	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaaatctgttctctgaacTgacacggaaagaatattcca	15	10	6	10	1	2	3	0	2	2	1	4	4	3	4	2	1	1	1	2	1	5	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:179412203T>G	ENST00000589042.1	-	339	94374	c.94150A>C	c.(94150-94152)Agt>Cgt	p.S31384R	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.S22511R|TTN_ENST00000591111.1_Missense_Mutation_p.S29743R|TTN_ENST00000460472.2_Missense_Mutation_p.S22319R|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.S22444R|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S28816R|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	29743	Fibronectin type-III 129.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTCTGAACTGACACGGAAA	0.383													G	179412203	T	G	179412203	3	3	641	1	0	0	0	0	1	0	0	0	16837	1580	55	5	13925	5	TTN	2	179412203	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	104655018	179412203	63787170	3	51819											
RAPH1	65059	broad.mit.edu	37	chr2	204304519	204304519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctcagcttgagtgaggcGggtgctatcattccgtttgg	7	13	13	8	2	2	2	2	2	1	0	4	2	3	2	1	3	2	3	1	3	2	4	rs146219972	byFrequency	TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr2:204304519G>A	ENST00000319170.5	-	14	3693	c.3394C>T	c.(3394-3396)Cgc>Tgc	p.R1132C	RAPH1_ENST00000374493.3_Missense_Mutation_p.R1184C|ABI2_ENST00000295851.5_3'UTR|RAPH1_ENST00000457812.1_Intron	NM_213589.1	NP_998754.1	Q70E73	RAPH1_HUMAN	Ras association (RalGDS/AF-6) and pleckstrin homology domains 1	1132					cell-matrix adhesion|signal transduction	cytoplasm|cytoskeleton|filopodium|lamellipodium|nucleus|plasma membrane				breast(5)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TGAGTGAGGCGGGTGCTATCA	0.517													A	204304519	G	A	204304519	3	1	641	1	0	0	0	0	1	0	0	0	13138	1116	39	1	362	1	RAPH1	2	204304519	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	24892316	204304519	38894854	4	51820											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	641	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	4808593	209113112	34086261	5	51821											
MAGI1	9223	broad.mit.edu	37	chr3	65346835	65346835	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacaaattcatggagtcaTgccagggaaggaaggaatgt	15	7	14	5	0	2	1	2	0	0	1	2	6	2	5	1	4	1	0	1	4	4	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:65346835T>C	ENST00000483466.1	-	23	4001	c.3760A>G	c.(3760-3762)Atg>Gtg	p.M1254V	MAGI1_ENST00000330909.8_Intron|MAGI1_ENST00000497477.2_Missense_Mutation_p.M1158V|MAGI1_ENST00000402939.2_Intron	NM_004742.2	NP_004733.2	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	0					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CATGGAGTCATGCCAGGGAAG	0.483													C	65346835	T	C	65346835	3	2	641	1	0	0	0	0	1	0	0	0	9265	1464	51	3	866	3	MAGI1	3	65346835	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		65346835	132675595	6	51822											
ALG1L2	644974	broad.mit.edu	37	chr3	129817127	129817127	+	RNA	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagctaaaccagttccggAagaacctgcgggagtcgcag	12	5	13	11	3	0	1	0	0	0	1	2	3	1	3	3	2	4	4	3	2	5	2			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr3:129817127A>C	ENST00000507643.1	+	0	709							C9J202	AG1L2_HUMAN							biosynthetic process		transferase activity, transferring glycosyl groups										CCAGTTCCGGAAGAACCTGCG	0.522													C	129817127	A	C	129817127	1	2	641	0	1	0	0	0	0	0	0	0	518	261	9	5		5	ALG1L2	3	129817127	RNA	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	64470292	129817127	68205303	7	51823											
PCDH10	57575	broad.mit.edu	37	chr4	134072551	134072551	+	Frame_Shift_Del	DEL	C	C	-																															ctacaccatcgttaccgaagCccccctggaccgagaggcgg																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:134072551delC	ENST00000264360.5	+	1	2082	c.1256delC	c.(1255-1257)gccfs	p.A419fs		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GTTACCGAAGCCCCCCTGGAC	0.592													-	134072551	C	-	134072551	7	5	641	1	0	1	0	1	0	0	0	0	11583	739	26	0	1258	0	PCDH10	4	134072551	Frame_Shift_Del	DEL	C	TCGA-P5-A5F1-01A-11D-A289-08		134072551	57081725	8	51824											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													G	149075976	T	G	149075976	2	3	641	1	0	0	0	0	0	0	0	1	10707	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	15003425	149075976	42078300	9	51825											
FAM81B	153643	broad.mit.edu	37	chr5	94749873	94749873	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatcaccagcatcgtcaaAaaactcagccaaaatattga	18	7	4	12	1	3	1	3	1	0	0	4	1	3	1	3	0	3	1	3	0	6	2			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr5:94749873A>G	ENST00000283357.5	+	4	562	c.516A>G	c.(514-516)aaA>aaG	p.K172K		NM_152548.2	NP_689761	Q96LP2	FA81B_HUMAN	family with sequence similarity 81, member B	172										central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22		all_cancers(142;1.1e-06)|all_epithelial(76;1.48e-09)|all_lung(232;0.000696)|Lung NSC(167;0.000947)|Ovarian(225;0.00473)		all cancers(79;1.04e-16)		GCATCGTCAAAAAACTCAGCC	0.418													G	94749873	A	G	94749873	2	3	641	1	0	0	0	0	0	0	0	1	5679	11	1	3		3	FAM81B	5	94749873	Silent	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08		94749873	86165387	10	51826											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	641	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F1-01A-11D-A289-08		31939829	139175238	11	51827											
BRPF3	27154	broad.mit.edu	37	chr6	36169409	36169409	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggaagctcaaggcggggTgagtggctccctcaagggag	9	5	18	9	1	2	1	2	1	0	0	3	3	3	3	1	6	1	3	1	6	3	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr6:36169409T>G	ENST00000357641.6	+	2	1563	c.1310T>G	c.(1309-1311)gTg>gGg	p.V437G	BRPF3_ENST00000543502.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534694.1_Missense_Mutation_p.V437G|BRPF3_ENST00000534400.1_Missense_Mutation_p.V437G|BRPF3_ENST00000339717.7_Missense_Mutation_p.V437G|BRPF3_ENST00000443324.2_Missense_Mutation_p.V437G	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	437					histone H3 acetylation|platelet activation|platelet degranulation	cytosol|extracellular region|MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CAAGGCGGGGTGAGTGGCTCC	0.547													G	36169409	T	G	36169409	3	3	641	1	0	0	0	0	1	0	0	0	1530	1696	59	5	1312	5	BRPF3	6	36169409	Missense_Mutation	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08	4229580	36169409	134945658	12	51828											
COL17A1	1308	broad.mit.edu	37	chr10	105836081	105836081	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacgcatggcgggtaacGtgagttttcctttcaaaggt	9	13	11	8	3	2	1	2	1	0	0	3	1	3	1	1	3	2	3	1	3	3	5			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:105836081G>A	ENST00000353479.5	-	5	599	c.309C>T	c.(307-309)caC>caT	p.H103H	COL17A1_ENST00000369733.3_Silent_p.H103H|COL17A1_ENST00000393211.3_Silent_p.H103H	NM_000494.3	NP_000485.3	Q9UMD9	COHA1_HUMAN	collagen, type XVII, alpha 1	103	Nonhelical region (NC16).				cell-matrix adhesion|epidermis development|hemidesmosome assembly	basement membrane|cell-cell junction|collagen|hemidesmosome|integral to plasma membrane	protein binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|liver(1)|lung(22)|ovary(5)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	62		Colorectal(252;0.103)|Breast(234;0.122)		Epithelial(162;2.5e-09)|all cancers(201;7.94e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		GGCGGGTAACGTGAGTTTTCC	0.507													A	105836081	G	A	105836081	2	1	641	1	0	0	0	0	0	0	0	1	3705	1136	40	1		1	COL17A1	10	105836081	Silent	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		105836081	29698666	13	51829											
MKI67	4288	broad.mit.edu	37	chr10	129905566	129905566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgtccactttcctgagacttCtcttggactgtggcttggag	5	14	11	11	1	1	1	0	1	1	1	4	4	3	3	2	3	0	1	2	3	0	4			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr10:129905566C>T	ENST00000368654.3	-	13	4913	c.4538G>A	c.(4537-4539)aGa>aAa	p.R1513K	MKI67_ENST00000368653.3_Missense_Mutation_p.R1153K	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1513	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CCTGAGACTTCTCTTGGACTG	0.498													T	129905566	C	T	129905566	3	4	641	1	0	0	0	0	1	0	0	0	9673	913	32	2	5244	2	MKI67	10	129905566	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	24069485	129905566	5629181	14	51830											
TRIM6	117854	broad.mit.edu	37	chr11	5624532	5624532	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgggcaggcaggagccaggaGagtagctacaatgacttcac	12	6	14	9	0	1	2	1	1	0	1	1	4	1	3	1	4	3	4	1	4	3	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:5624532G>A	ENST00000380097.3	+	2	316	c.74G>A	c.(73-75)aGa>aAa	p.R25K	TRIM6_ENST00000507320.1_Intron|AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_5'UTR|HBG2_ENST00000380259.2_Intron|TRIM6-TRIM34_ENST00000354852.5_Missense_Mutation_p.R25K|TRIM6_ENST00000515022.1_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000278302.5_5'UTR	NM_001003818.2|NM_001198644.1|NM_001198645.1	NP_001003818.1|NP_001185573.1|NP_001185574.1			tripartite motif containing 6											breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		GGAGCCAGGAGAGTAGCTACA	0.483													A	5624532	G	A	5624532	3	1	641	1	0	0	0	0	1	0	0	0	16634	942	33	2	80	2	TRIM6	11	5624532	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		5624532	129381984	15	51831											
LRFN4	78999	broad.mit.edu	37	chr11	66627620	66627620	+	Frame_Shift_Del	DEL	G	G	-																															gctgctcggggcagggtgccGgggggtaggaggcagcgccg																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr11:66627620delG	ENST00000309602.4	+	2	2105	c.1862delG	c.(1861-1863)cggfs	p.R621fs	PC_ENST00000393960.1_Intron|PC_ENST00000393958.2_Intron|LRFN4_ENST00000393952.3_Intron|PC_ENST00000393955.2_Intron	NM_024036.4	NP_076941.2	Q6PJG9	LRFN4_HUMAN	leucine rich repeat and fibronectin type III domain containing 4	621						integral to membrane				breast(1)|lung(1)|prostate(1)	3						GCAGGGTGCCGGGGGGTAGGA	0.692													-	66627620	G	-	66627620	7	5	641	1	0	1	0	1	0	0	0	0	9010	1116	39	0	1868	0	LRFN4	11	66627620	Frame_Shift_Del	DEL	G	TCGA-P5-A5F1-01A-11D-A289-08	61003088	66627620	68378896	16	51832											
FAM90A1	55138	broad.mit.edu	37	chr12	8376067	8376067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagataatcagaagattccGtggatcctttttgatttggc	10	15	9	7	1	2	4	2	1	0	3	4	5	4	5	2	2	0	0	2	2	2	5	rs150256213		TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr12:8376067G>A	ENST00000538603.1	-	6	968	c.410C>T	c.(409-411)aCg>aTg	p.T137M	FAM90A1_ENST00000307435.6_Missense_Mutation_p.T137M	NM_018088.3	NP_060558.3	Q86YD7	F90A1_HUMAN	family with sequence similarity 90, member A1	137							nucleic acid binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	25				Kidney(36;0.0866)		AGAAGATTCCGTGGATCCTTT	0.527													A	8376067	G	A	8376067	3	1	641	1	0	0	0	0	1	0	0	0	5699	1145	40	1	992	1	FAM90A1	12	8376067	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		8376067	125475828	17	51833											
NYNRIN	57523	broad.mit.edu	37	chr14	24884572	24884572	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagggcccccagtcaggggGtgacagcccctatgctgtgg	6	6	15	14	0	1	1	1	1	0	0	1	1	1	1	5	4	2	1	5	4	1	1			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr14:24884572G>A	ENST00000382554.3	+	9	3935	c.3617G>A	c.(3616-3618)gGt>gAt	p.G1206D		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	1206					DNA integration	integral to membrane	DNA binding			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						CAGTCAGGGGGTGACAGCCCC	0.617													A	24884572	G	A	24884572	3	1	641	1	0	0	0	0	1	0	0	0	10872	1261	44	2	3647	2	NYNRIN	14	24884572	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		24884572	82464968	18	51834											
TFAP4	7023	broad.mit.edu	37	chr16	4308138	4308138	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggcctcggagtcggaggcgGtgtcagaggtgggggcctcc	5	6	20	10	3	1	1	1	0	0	1	4	3	2	3	3	8	0	0	3	8	0	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:4308138G>A	ENST00000204517.6	-	7	1263	c.935C>T	c.(934-936)aCc>aTc	p.T312I		NM_003223.2	NP_003214.1	Q01664	TFAP4_HUMAN	transcription factor AP-4 (activating enhancer binding protein 4)	312					DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation by host of viral transcription|negative regulation of cell cycle arrest|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|regulation of S phase of mitotic cell cycle	transcriptional repressor complex	E-box binding|histone deacetylase binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			NS(1)|endometrium(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	14						GTCGGAGGCGGTGTCAGAGGT	0.692													A	4308138	G	A	4308138	3	1	641	1	0	0	0	0	1	0	0	0	15892	1261	44	2	85	2	TFAP4	16	4308138	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		4308138	86046615	19	51835											
TNRC6A	27327	broad.mit.edu	37	chr16	24800571	24800571	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatataaaccacagtacttCaggatcccattatgaaaatt	17	11	5	8	0	1	2	1	1	0	1	2	3	2	3	2	1	2	1	2	1	7	6			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr16:24800571C>G	ENST00000395799.3	+	6	737	c.608C>G	c.(607-609)tCa>tGa	p.S203*	TNRC6A_ENST00000315183.7_Nonsense_Mutation_p.S203*	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	203	Ser-rich.				negative regulation of translation involved in gene silencing by miRNA	cytoplasmic mRNA processing body|micro-ribonucleoprotein complex	nucleotide binding|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		CACAGTACTTCAGGATCCCAT	0.353													G	24800571	C	G	24800571	4	3	641	1	0	0	0	0	0	1	0	0	16440	838	29	4	630	4	TNRC6A	16	24800571	Nonsense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	20492433	24800571	65554182	20	51836											
TP53	7157	broad.mit.edu	37	chr17	7577157	7577158	+	Splice_Site	DEL	TA	TA	-																															ccgtcccagtagattaccacTactcaggataggaaaagaga																										TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7577157_7577158delTA	ENST00000420246.2	-	8	915		c.e8-2		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(12)|p.0?(8)|p.E258fs*71(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)		AGATTACCACTACTCAGGATAG	0.515		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)			-	7577158	TA	-	7577157	8	5	641	1	0	1	0	1	0	0	1	0	16482	1536	53	0	505	0	TP53	17	7577157	Splice_Site	DEL	TA	TCGA-P5-A5F1-01A-11D-A289-08		7577157	73618053	21	51837											
TP53	7157	broad.mit.edu	37	chr17	7578492	7578492	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgggggtgtggaatcaacCcacagctgcacagggcaggt	9	5	17	10	1	1	0	1	0	0	0	1	1	1	1	1	6	3	3	1	6	2	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:7578492C>T	ENST00000420246.2	-	5	570	c.438G>A	c.(436-438)tgG>tgA	p.W146*	TP53_ENST00000269305.4_Nonsense_Mutation_p.W146*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W146*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W146*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W146*|TP53_ENST00000455263.2_Nonsense_Mutation_p.W146*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	146	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		W -> C (in a sporadic cancer; somatic mutation).|W -> G (in sporadic cancers; somatic mutation).|W -> L (in sporadic cancers; somatic mutation).|W -> R (in sporadic cancers; somatic mutation).|W -> S (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.W146*(39)|p.0?(8)|p.W53*(3)|p.W14*(3)|p.W146C(2)|p.Q144_G154del11(1)|p.W146_V147insXXXXXXX(1)|p.W146_S149>C(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*1(1)|p.L137_W146del10(1)|p.W146fs*22(1)|p.W146fs*23(1)|p.V143_S149del(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)		TGGAATCAACCCACAGCTGCA	0.602		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)			T	7578492	C	T	7578492	4	4	641	1	0	0	0	0	0	1	0	0	16482	624	22	2	860	2	TP53	17	7578492	Nonsense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	1335	7578492	73616718	22	51838											
ACACA	31	broad.mit.edu	37	chr17	35545360	35545360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcagttctgcctggaggaCgcgcaatttccacaggcgac	8	10	11	12	3	2	0	1	0	1	0	3	3	3	2	2	3	1	2	2	3	1	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:35545360C>T	ENST00000353139.5	-	39	5114	c.4633G>A	c.(4633-4635)Gtc>Atc	p.V1545I	ACACA_ENST00000335166.5_Missense_Mutation_p.V1430I|ACACA_ENST00000360679.3_Missense_Mutation_p.V1450I|ACACA_ENST00000394406.2_Missense_Mutation_p.V1508I	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha	1508					acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	GCCTGGAGGACGCGCAATTTC	0.483													T	35545360	C	T	35545360	3	4	641	1	0	0	0	0	1	0	0	0	106	536	19	1	2590	1	ACACA	17	35545360	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	27966868	35545360	45649850	23	51839											
TNS4	84951	broad.mit.edu	37	chr17	38645118	38645118	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaaggaggaggccaccActgcgaagggagccgaaggg	12	2	18	9	2	0	0	0	0	0	0	0	6	0	4	3	6	2	0	3	6	3	0			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:38645118A>G	ENST00000254051.6	-	3	701	c.543T>C	c.(541-543)agT>agC	p.S181S		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	181	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GGAGGCCACCACTGCGAAGGG	0.642													G	38645118	A	G	38645118	2	3	641	1	0	0	0	0	0	0	0	1	16445	156	6	3		3	TNS4	17	38645118	Silent	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	3099758	38645118	42550092	24	51840											
C1QTNF1	114897	broad.mit.edu	37	chr17	77043851	77043851	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagttcgtgaacctctacgAccacttcaacatgttcaccg	10	10	8	13	3	3	1	2	1	1	0	4	3	3	2	3	1	3	2	3	1	3	4			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr17:77043851A>C	ENST00000339142.2	+	5	1082	c.527A>C	c.(526-528)gAc>gCc	p.D176A	C1QTNF1_ENST00000581774.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000582625.1_3'UTR|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000578229.1_Missense_Mutation_p.D94A|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.D186A|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.D176A|C1QTNF1_ENST00000583904.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.D176A|C1QTNF1_ENST00000311661.4_Missense_Mutation_p.D94A	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	176	C1q.					collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			AACCTCTACGACCACTTCAAC	0.562													C	77043851	A	C	77043851	3	2	641	1	0	0	0	0	1	0	0	0	1982	275	10	5	537	5	C1QTNF1	17	77043851	Missense_Mutation	SNP	A	TCGA-P5-A5F1-01A-11D-A289-08	38398733	77043851	4151359	25	51841											
ZNF260	339324	broad.mit.edu	37	chr19	37005409	37005409	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacacgtataaggtttctcTcctgtgtgacttctctggtg	6	17	9	9	1	2	1	0	1	2	0	5	1	3	1	1	2	1	2	1	2	3	5			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:37005409T>C	ENST00000523638.1	-	3	1853	c.732A>G	c.(730-732)ggA>ggG	p.G244G	ZNF260_ENST00000588993.1_Silent_p.G244G|ZNF260_ENST00000592282.1_Silent_p.G244G|ZNF260_ENST00000593142.1_Silent_p.G244G	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	244					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					AAGGTTTCTCTCCTGTGTGAC	0.413													C	37005409	T	C	37005409	2	2	641	1	0	0	0	0	0	0	0	1	17903	1538	54	3		3	ZNF260	19	37005409	Silent	SNP	T	TCGA-P5-A5F1-01A-11D-A289-08		37005409	22123574	26	51842											
PEG3	5178	broad.mit.edu	37	chr19	57325168	57325168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctgtgctggtgctggcacGttcgatgtagcctgagcact	6	11	13	11	2	0	1	0	1	0	0	1	2	0	1	2	2	4	6	2	2	1	2			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr19:57325168G>A	ENST00000326441.9	-	10	5005	c.4642C>T	c.(4642-4644)Cgt>Tgt	p.R1548C	ZIM2_ENST00000599935.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.R1422C|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.R1548C|PEG3_ENST00000598410.1_Missense_Mutation_p.R1424C|ZIM2_ENST00000601070.1_Intron	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1548					apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		GTGCTGGCACGTTCGATGTAG	0.522													A	57325168	G	A	57325168	3	1	641	1	0	0	0	0	1	0	0	0	11796	1145	40	1	128	1	PEG3	19	57325168	Missense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	20319759	57325168	1803815	27	51843											
BAGE2	85319	broad.mit.edu	37	chr21	11038930	11038930	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaagacacatctgccttGcttatgtctgctgataatga	11	12	10	8	0	2	3	0	2	2	1	2	5	2	4	1	1	3	2	1	1	3	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11038930G>T	ENST00000470054.1	-	0	1273									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CATCTGCCTTGCTTATGTCTG	0.428													T	11038930	G	T	11038930	1	4	641	0	1	0	0	0	0	0	0	0	1297	1334	46	4		4	BAGE2	21	11038930	RNA	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		11038930	37090965	28	51844											
BAGE2	85319	broad.mit.edu	37	chr21	11047557	11047557	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgataccctttgtcacacGtatcacacactagcatcttg	11	13	5	12	1	3	1	2	1	1	0	3	1	3	1	1	0	2	2	1	0	4	6			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:11047557G>A	ENST00000470054.1	-	0	697									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTGTCACACGTATCACACAC	0.333													A	11047557	G	A	11047557	1	1	641	0	1	0	0	0	0	0	0	0	1297	1160	40	1		1	BAGE2	21	11047557	RNA	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08	8627	11047557	37082338	29	51845											
TCP10L	140290	broad.mit.edu	37	chr21	33954533	33954533	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgcgattcttgccccgCgtgtggggacgctgcagatt	5	11	15	10	4	1	1	0	0	1	1	1	3	1	2	2	2	3	2	2	2	0	3			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chr21:33954533C>T	ENST00000300258.3	-	3	450	c.337G>A	c.(337-339)Gcg>Acg	p.A113T	AP000275.65_ENST00000553001.1_Missense_Mutation_p.A287T|TCP10L_ENST00000472557.1_Missense_Mutation_p.A27T	NM_144659.5	NP_653260.1			t-complex 10-like											breast(1)|central_nervous_system(1)|liver(1)|skin(1)	4						TCTTGCCCCGCGTGTGGGGAC	0.498													T	33954533	C	T	33954533	3	4	641	1	0	0	0	0	1	0	0	0	15811	768	27	1	322	1	TCP10L	21	33954533	Missense_Mutation	SNP	C	TCGA-P5-A5F1-01A-11D-A289-08	22906976	33954533	14175362	30	51846											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	12	12	8	9	2	3	2	1	0	2	2	5	4	4	3	1	2	1	0	1	2	4	5			TCGA-P5-A5F1-01A-11D-A289-08	TCGA-P5-A5F1-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	796f0a2f-39d4-4860-84b8-3c17e94a5fc7	30685d26-2709-4406-8937-9c326bf8164e	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938788	G	A	76938788	4	1	641	1	0	0	0	0	0	1	0	0	1213	1066	37	1	5626	1	ATRX	23	76938788	Nonsense_Mutation	SNP	G	TCGA-P5-A5F1-01A-11D-A289-08		76938788	78331772	31	51847											
PADI2	11240	broad.mit.edu	37	chr1	17418910	17418910	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggatcactcactctccacGtagaacacgcccactttgtc	9	10	7	15	2	3	1	2	0	1	1	5	2	3	2	2	1	1	1	2	1	2	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:17418910G>A	ENST00000375486.4	-	6	711	c.648C>T	c.(646-648)taC>taT	p.Y216Y	PADI2_ENST00000444885.2_Intron|PADI2_ENST00000375481.1_Silent_p.Y216Y	NM_007365.2	NP_031391.2	Q9Y2J8	PADI2_HUMAN	peptidyl arginine deiminase, type II	216					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(12)|ovary(4)|pancreas(1)|skin(5)|urinary_tract(3)	29		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000422)|Renal(390;0.000518)|all_lung(284;0.000546)|Ovarian(437;0.00671)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00583)|BRCA - Breast invasive adenocarcinoma(304;1.49e-05)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(64;0.000258)|KIRC - Kidney renal clear cell carcinoma(64;0.00348)|STAD - Stomach adenocarcinoma(196;0.0072)|READ - Rectum adenocarcinoma(331;0.0698)|Lung(427;0.201)	L-Citrulline(DB00155)	CACTCTCCACGTAGAACACGC	0.577													A	17418910	G	A	17418910	2	1	642	1	0	0	0	0	0	0	0	1	11454	1140	40	1		1	PADI2	1	17418910	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		17418910	231831711	1	51848											
KTI12	112970	broad.mit.edu	37	chr1	52499413	52499413	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgccgctgtacggcagcccGcaaaacaccacgagcggcat	10	5	11	15	5	0	0	0	0	0	0	0	1	0	0	3	2	5	5	3	2	3	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:52499413G>A	ENST00000371614.1	-	1	75	c.21C>T	c.(19-21)tgC>tgT	p.C7C	RP11-91A18.4_ENST00000425802.1_RNA|TXNDC12_ENST00000610127.1_3'UTR|TXNDC12_ENST00000371626.4_Intron	NM_138417.2	NP_612426.1	Q96EK9	KTI12_HUMAN	KTI12 homolog, chromatin associated (S. cerevisiae)	7							ATP binding			central_nervous_system(2)|endometrium(1)|kidney(1)|lung(4)|ovary(1)|stomach(2)|urinary_tract(1)	12						ACGGCAGCCCGCAAAACACCA	0.672													A	52499413	G	A	52499413	2	1	642	1	0	0	0	0	0	0	0	1	8643	1079	38	1		1	KTI12	1	52499413	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	35080503	52499413	196751208	2	51849											
ARHGEF2	9181	broad.mit.edu	37	chr1	155920805	155920805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgggcctgctcactctcccGgagccgggcctccaggctgc	3	6	13	19	3	2	0	1	0	1	0	4	1	3	1	6	4	3	2	6	4	0	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr1:155920805G>A	ENST00000462460.2	-	24	2907	c.2653C>T	c.(2653-2655)Cgg>Tgg	p.R885W	ARHGEF2_ENST00000361247.4_Missense_Mutation_p.R840W|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.R841W|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.R812W|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.R839W|ARHGEF2_ENST00000368316.1_Missense_Mutation_p.R812W|ARHGEF2_ENST00000477754.2_Intron			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					TCACTCTCCCGGAGCCGGGCC	0.706													A	155920805	G	A	155920805	3	1	642	1	0	0	0	0	1	0	0	0	906	1115	39	1	454	1	ARHGEF2	1	155920805	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	103421392	155920805	93329816	3	51850											
IL1RL1	9173	broad.mit.edu	37	chr2	102968090	102968090	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacaataaggagtttgcctaCgagcaggaggttgccctgca	11	8	12	10	1	0	0	0	0	0	0	0	3	0	2	2	3	5	4	2	3	3	4	rs112596146		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:102968090C>T	ENST00000233954.1	+	11	1651	c.1380C>T	c.(1378-1380)taC>taT	p.Y460Y		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	460	TIR.				innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.Y460Y(1)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						AGTTTGCCTACGAGCAGGAGG	0.527													T	102968090	C	T	102968090	2	4	642	1	0	0	0	0	0	0	0	1	7721	547	19	1		1	IL1RL1	2	102968090	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		102968090	140231283	4	51851											
TTN	7273	broad.mit.edu	37	chr2	179531582	179531582	+	Frame_Shift_Del	DEL	A	A	-																															ggtgtttttcttcttttaacAataggagtttctccctctgg																										TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:179531582delA	ENST00000589042.1	-	163	36068	c.35844delT	c.(35842-35844)attfs	p.I11948fs	TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	10096	Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCTTTTAACAATAGGAGTTT	0.323													-	179531582	A	-	179531582	7	5	642	1	0	1	0	1	0	0	0	0	16837	145	5	0		0	TTN	2	179531582	Frame_Shift_Del	DEL	A	TCGA-P5-A5F2-01A-11D-A289-08	76563492	179531582	63667791	5	51852											
HECW2	57520	broad.mit.edu	37	chr2	197189831	197189831	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatcttaagataagggtcaGgattgaagaacatccctttc	14	11	8	8	0	2	3	1	1	1	2	4	4	3	4	1	2	1	0	1	2	4	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:197189831G>A	ENST00000260983.3	-	6	796	c.614C>T	c.(613-615)cCt>cTt	p.P205L	HECW2_ENST00000409111.1_Intron	NM_020760.1	NP_065811.1	Q9P2P5	HECW2_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 2		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm	ubiquitin-protein ligase activity			biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(24)|lung(45)|ovary(5)|pancreas(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	113						ATAAGGGTCAGGATTGAAGAA	0.493													A	197189831	G	A	197189831	3	1	642	1	0	0	0	0	1	0	0	0	7098	1000	35	2	4200	2	HECW2	2	197189831	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	17658249	197189831	46009542	6	51853											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	642	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	11923281	209113112	34086261	7	51854											
OBSL1	23363	broad.mit.edu	37	chr2	220432495	220432495	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaggctaaaggtgacctcGccagcatcctctcgggtgac	8	7	11	15	2	1	2	0	2	1	0	4	2	2	2	4	3	1	2	4	3	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:220432495G>A	ENST00000404537.1	-	3	1535	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	OBSL1_ENST00000373873.4_Silent_p.G493G|OBSL1_ENST00000603926.1_Silent_p.G493G|OBSL1_ENST00000265318.4_Silent_p.G493G|OBSL1_ENST00000289656.3_Silent_p.G80G|OBSL1_ENST00000373876.1_Silent_p.G493G	NM_015311.2	NP_056126.1	O75147	OBSL1_HUMAN	obscurin-like 1	493					cardiac myofibril assembly	intercalated disc|M band|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity						Renal(207;0.0376)		Epithelial(149;2.02e-07)|all cancers(144;1.68e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00834)		AGGTGACCTCGCCAGCATCCT	0.627													A	220432495	G	A	220432495	2	1	642	1	0	0	0	0	0	0	0	1	10889	1074	38	1		1	OBSL1	2	220432495	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	11319383	220432495	22766878	8	51855											
HDAC4	9759	broad.mit.edu	37	chr2	240111713	240111713	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagaactggtggtccaggCgcaggtccatgggcactgcc	7	7	16	11	1	0	1	0	1	0	1	2	2	2	1	3	5	2	2	3	5	1	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr2:240111713C>T	ENST00000345617.3	-	4	946	c.155G>A	c.(154-156)cGc>cAc	p.R52H	HDAC4_ENST00000541256.1_Missense_Mutation_p.R21H	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	52					B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		GTGGTCCAGGCGCAGGTCCAT	0.667													T	240111713	C	T	240111713	3	4	642	1	0	0	0	0	1	0	0	0	7064	768	27	1	3195	1	HDAC4	2	240111713	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	19679218	240111713	3087660	9	51856											
RRP9	9136	broad.mit.edu	37	chr3	51967796	51967796	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggctgttgataaaacccAcctgagcagaaagacaacac	16	6	9	10	0	0	5	0	3	0	2	0	5	0	5	2	1	3	3	2	1	4	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:51967796A>C	ENST00000232888.6	-	14	1335	c.1262T>G	c.(1261-1263)gTg>gGg	p.V421G		NM_004704.3	NP_004695.1	O43818	U3IP2_HUMAN	ribosomal RNA processing 9, small subunit (SSU) processome component, homolog (yeast)	421					rRNA processing	nucleolus|small nuclear ribonucleoprotein complex|small nucleolar ribonucleoprotein complex	RNA binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|ovary(1)|skin(1)	21				BRCA - Breast invasive adenocarcinoma(193;8.04e-05)|Kidney(197;0.000553)|KIRC - Kidney renal clear cell carcinoma(197;0.000724)		GATAAAACCCACCTGAGCAGA	0.572													C	51967796	A	C	51967796	5	2	642	1	0	0	0	0	0	0	1	0	13782	173	6	5	173	5	RRP9	3	51967796	Splice_Site	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08		51967796	146054634	10	51857											
DPPA2	151871	broad.mit.edu	37	chr3	109023364	109023364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatattatcttctatgcctGgggatgggaaaatgcaggca	12	11	11	7	0	2	0	0	0	2	0	2	2	2	2	1	4	2	2	1	4	5	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:109023364G>A	ENST00000478945.1	-	7	1058	c.812C>T	c.(811-813)cCa>cTa	p.P271L		NM_138815.3	NP_620170.3	Q7Z7J5	DPPA2_HUMAN	developmental pluripotency associated 2	271						nucleus	nucleic acid binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						TTCTATGCCTGGGGATGGGAA	0.473													A	109023364	G	A	109023364	3	1	642	1	0	0	0	0	1	0	0	0	4773	1348	47	2	92	2	DPPA2	3	109023364	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	57055568	109023364	88999066	11	51858											
SERPINI1	5274	broad.mit.edu	37	chr3	167508340	167508340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatgtggacttcagtcaaaAtgtagccgtggccaactaca	12	10	9	10	1	3	0	3	0	0	0	3	1	3	1	2	2	3	1	2	2	5	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr3:167508340A>G	ENST00000295777.5	+	3	862	c.431A>G	c.(430-432)aAt>aGt	p.N144S	SERPINI1_ENST00000446050.2_Missense_Mutation_p.N144S	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	144					central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						TTCAGTCAAAATGTAGCCGTG	0.363													G	167508340	A	G	167508340	3	3	642	1	0	0	0	0	1	0	0	0	14211	101	4	3	437	3	SERPINI1	3	167508340	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	58484976	167508340	30514090	12	51859											
PPARGC1A	10891	broad.mit.edu	37	chr4	23830190	23830190	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggcttttgctgttgaCaaatactcttcgctttattg	6	20	8	7	1	1	1	0	1	1	0	2	1	1	1	0	1	2	4	0	1	3	9			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:23830190C>T	ENST00000264867.2	-	5	709	c.590G>A	c.(589-591)tGt>tAt	p.C197Y	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	197					androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				TTGCTGTTGACAAATACTCTT	0.408													T	23830190	C	T	23830190	3	4	642	1	0	0	0	0	1	0	0	0	12377	478	17	2	1842	2	PPARGC1A	4	23830190	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		23830190	167324086	13	51860											
NR3C2	4306	broad.mit.edu	37	chr4	149075976	149075976	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggctttgcgggggtgggggTgggggtgggggctgctgctg	0	9	27	5	1	0	0	0	0	0	0	0	0	0	0	0	9	3	4	0	9	0	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:149075976T>G	ENST00000355292.3	-	5	2465	c.2103A>C	c.(2101-2103)ccA>ccC	p.P701P	NR3C2_ENST00000503313.1_5'UTR|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000511528.1_Silent_p.P701P|NR3C2_ENST00000358102.3_Silent_p.P697P|NR3C2_ENST00000344721.4_Silent_p.P697P|NR3C2_ENST00000512865.1_Intron			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	697	Hinge.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	ggggtgggggtgggggtgggg	0.527													G	149075976	T	G	149075976	2	3	642	1	0	0	0	0	0	0	0	1	10707	1683	59	5		5	NR3C2	4	149075976	Silent	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	125245786	149075976	42078300	14	51861											
GALNTL6	442117	broad.mit.edu	37	chr4	173873279	173873279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatctctccacgggggAcatctctgcccagaaggagc	9	6	12	14	1	2	1	0	0	2	1	5	3	3	3	2	4	2	1	2	4	1	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr4:173873279A>G	ENST00000506823.1	+	10	1898	c.1241A>G	c.(1240-1242)gAc>gGc	p.D414G	GALNTL6_ENST00000508122.1_Missense_Mutation_p.D397G	NM_001034845.2	NP_001030017.2	Q49A17	GLTL6_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase-like 6	414						Golgi membrane|integral to membrane	metal ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(2)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	45						TCCACGGGGGACATCTCTGCC	0.567													G	173873279	A	G	173873279	3	3	642	1	0	0	0	0	1	0	0	0	6279	275	10	3	1275	3	GALNTL6	4	173873279	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	24797303	173873279	17280997	15	51862											
RIOK2	55781	broad.mit.edu	37	chr5	96518818	96518819	+	Frame_Shift_Ins	INS	-	-	G																															gaagggagaacaggaacggcINSgggtttcttaccgcggtcaa																										TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:96518818_96518819insG	ENST00000509481.1	+	4	680_681	c.139_140insG	c.(139-141)cggfs	p.R47fs	RIOK2_ENST00000283109.3_Intron|RIOK2_ENST00000508447.1_Intron																urinary_tract(1)	1						ACAGGAACGGCGGGTTTCTTAC	0.569													G	96518819	-	G	96518818	7	5	642	1	0	1	1	0	0	0	0	0	13469	783	27	0		0	RIOK2	5	96518818	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		96518818	84396442	16	51863											
EGR1	1958	broad.mit.edu	37	chr5	137802589	137802589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acagtggcaacaccttgtggCccgagcccctcttcagcttg	7	9	10	15	1	2	0	1	0	1	0	2	1	2	0	4	2	3	2	4	2	1	3	rs137878468		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:137802589C>T	ENST00000239938.4	+	2	723	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	151					cellular response to heparin|cellular response to mycophenolic acid|glomerular mesangial cell proliferation|interleukin-1-mediated signaling pathway|positive regulation of glomerular metanephric mesangial cell proliferation|positive regulation of transcription from RNA polymerase II promoter|regulation of protein sumoylation|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytoplasm|nucleus	histone acetyltransferase binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			CACCTTGTGGCCCGAGCCCCT	0.637													T	137802589	C	T	137802589	3	4	642	1	0	0	0	0	1	0	0	0	5010	739	26	2	457	2	EGR1	5	137802589	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	41283771	137802589	43112671	17	51864											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719479	140719479	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattatgaggatgctacatTccatgaaattgatattgaag	15	13	9	4	0	0	5	0	4	0	1	1	6	1	6	1	1	2	1	1	1	5	6			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr5:140719479T>A	ENST00000394576.2	+	1	941	c.941T>A	c.(940-942)tTc>tAc	p.F314Y	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATGCTACATTCCATGAAATT	0.428													A	140719479	T	A	140719479	3	1	642	1	0	0	0	0	1	0	0	0	11630	1783	62	5	943	5	PCDHGA2	5	140719479	Missense_Mutation	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08	2916890	140719479	40195781	18	51865											
IRF4	3662	broad.mit.edu	37	chr6	407544	407544	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgatttaccagaacacatCagcaatccagaagattacca	17	8	5	11	1	1	3	1	0	0	3	2	4	2	3	3	0	5	1	3	0	6	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:407544C>T	ENST00000380956.4	+	9	1428	c.1302C>T	c.(1300-1302)atC>atT	p.I434I		NM_001195286.1|NM_002460.3	NP_001182215.1|NP_002451.2	Q15306	IRF4_HUMAN	interferon regulatory factor 4	434					interferon-gamma-mediated signaling pathway|positive regulation of interleukin-10 biosynthetic process|positive regulation of interleukin-13 biosynthetic process|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of transcription, DNA-dependent|regulation of T-helper cell differentiation|T cell activation|type I interferon-mediated signaling pathway	cytoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)	5		Breast(5;0.0155)|all_lung(73;0.0691)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.03)|BRCA - Breast invasive adenocarcinoma(62;0.0702)		CAGAACACATCAGCAATCCAG	0.358			T	IGH@	MM								T	407544	C	T	407544	2	4	642	1	0	0	0	0	0	0	0	1	7890	816	29	2		2	IRF4	6	407544	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		407544	170707523	19	51866											
STK19	8859	broad.mit.edu	37	chr6	31939829	31939830	+	Frame_Shift_Ins	INS	-	-	A																															attcagcgacagtggcgggcINSaaacccctcccggggcgggg																										TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:31939829_31939830insA	ENST00000375331.2	+	1	222_223	c.56_57insA	c.(55-60)gcaaacfs	p.N20fs	DXO_ENST00000478221.1_5'UTR|DXO_ENST00000337523.5_5'UTR|DXO_ENST00000375349.3_5'UTR|STK19_ENST00000375333.2_Frame_Shift_Ins_p.N20fs	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	20						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						CAGTGGCGGGCAAACCCCTCCC	0.634													A	31939830	-	A	31939829	7	5	642	1	0	1	1	0	0	0	0	0	15388	710	25	0	58	0	STK19	6	31939829	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	31532285	31939829	139175238	20	51867											
FKBP5	2289	broad.mit.edu	37	chr6	35547956	35547956	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatctctaaccaggacaCtatcttcccatactgaatca	12	12	3	14	0	3	1	1	1	2	0	6	2	5	2	3	1	2	0	3	1	4	5			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:35547956C>A	ENST00000536438.1	-	10	1198	c.883G>T	c.(883-885)Gtg>Ttg	p.V295L	FKBP5_ENST00000357266.4_Missense_Mutation_p.V295L|FKBP5_ENST00000540787.1_Missense_Mutation_p.V116L|FKBP5_ENST00000539068.1_Missense_Mutation_p.V295L	NM_001145775.1	NP_001139247.1	Q13451	FKBP5_HUMAN	FK506 binding protein 5	295					protein folding	cytoplasm|membrane|nucleus	FK506 binding|heat shock protein binding|peptidyl-prolyl cis-trans isomerase activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(3)|urinary_tract(2)	17						AACCAGGACACTATCTTCCCA	0.433													A	35547956	C	A	35547956	3	1	642	1	0	0	0	0	1	0	0	0	5960	565	20	4	502	4	FKBP5	6	35547956	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	3608127	35547956	135567111	21	51868											
PKHD1	5314	broad.mit.edu	37	chr6	51712705	51712705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggatgtcagggtaaggcgGcaaatctgtgtgcaccagca	11	7	15	8	1	2	0	1	0	1	0	2	2	2	1	1	4	2	4	1	4	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr6:51712705G>A	ENST00000371117.3	-	50	8250	c.7975C>T	c.(7975-7977)Ccg>Tcg	p.P2659S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2659S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2659					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GGGTAAGGCGGCAAATCTGTG	0.458													A	51712705	G	A	51712705	3	1	642	1	0	0	0	0	1	0	0	0	12048	1203	42	2	4360	2	PKHD1	6	51712705	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	16164749	51712705	119402362	22	51869											
PCLO	27445	broad.mit.edu	37	chr7	82545175	82545175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aattaggacataatttcgtgGagtatggtgatcaatatctg	13	14	10	4	1	2	1	1	1	1	0	3	3	2	3	0	3	0	1	0	3	6	5			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr7:82545175G>A	ENST00000333891.9	-	7	12464	c.12127C>T	c.(12127-12129)Cca>Tca	p.P4043S	PCLO_ENST00000423517.2_Missense_Mutation_p.P4043S|PCLO_ENST00000437081.1_Missense_Mutation_p.P763S	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TAATTTCGTGGAGTATGGTGA	0.408													A	82545175	G	A	82545175	3	1	642	1	0	0	0	0	1	0	0	0	11659	1174	41	2	3394	2	PCLO	7	82545175	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		82545175	76593488	23	51870											
XKR5	389610	broad.mit.edu	37	chr8	6673270	6673270	+	RNA	DEL	A	A	-																															ctaccctttgagcccattgtAaaaaaaaaaaatacgttggg																										TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr8:6673270delA	ENST00000518724.1	-	0	1071							Q6UX68	XKR5_HUMAN	XK, Kell blood group complex subunit-related family, member 5							integral to membrane				endometrium(1)|large_intestine(1)|lung(1)	3			STAD - Stomach adenocarcinoma(24;0.0984)	READ - Rectum adenocarcinoma(644;0.137)|COAD - Colon adenocarcinoma(149;0.166)		AGCCCATTGTAAAAAAAAAAA	0.502											OREG0018511	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	6673270	A	-	6673270	6	5	642	0	1	1	0	1	0	0	0	0	17536	377	13	0		0	XKR5	8	6673270	RNA	DEL	A	TCGA-P5-A5F2-01A-11D-A289-08		6673270	139690752	24	51871											
FAM129B	64855	broad.mit.edu	37	chr9	130293979	130293979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgccctcaatctcatggCgcatgctgttgaagagagcc	8	9	11	13	2	2	2	2	1	1	1	3	3	2	2	3	1	3	3	3	1	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:130293979C>T	ENST00000373312.3	-	2	347	c.134G>A	c.(133-135)cGc>cAc	p.R45H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.R32H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	45							protein binding	p.R45H(1)		breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						AATCTCATGGCGCATGCTGTT	0.577													T	130293979	C	T	130293979	3	4	642	1	0	0	0	0	1	0	0	0	5482	768	27	1	2158	1	FAM129B	9	130293979	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		130293979	10919452	25	51872											
NOTCH1	4851	broad.mit.edu	37	chr9	139396809	139396809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagccctcagggaaccagaGctggccatgctgccgccggc	8	4	14	15	2	1	1	1	0	0	1	1	3	1	2	5	3	5	2	5	3	2	0			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr9:139396809G>A	ENST00000277541.6	-	28	5374	c.5299C>T	c.(5299-5301)Ctc>Ttc	p.L1767F		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1767					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GGGAACCAGAGCTGGCCATGC	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139396809	G	A	139396809	3	1	642	1	0	0	0	0	1	0	0	0	10623	971	34	2	2396	2	NOTCH1	9	139396809	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	9102830	139396809	1816622	26	51873											
PTPRE	5791	broad.mit.edu	37	chr10	129869084	129869084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcagaaattgacaaatGtccggatcatgaaggagaac	15	8	11	7	1	1	4	1	2	0	2	2	6	2	5	1	2	3	2	1	2	4	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr10:129869084G>A	ENST00000254667.3	+	15	1585	c.1306G>A	c.(1306-1308)Gtc>Atc	p.V436I	PTPRE_ENST00000306042.5_Missense_Mutation_p.V378I|PTPRE_ENST00000419012.2_Missense_Mutation_p.V436I	NM_006504.4	NP_006495.1	P23469	PTPRE_HUMAN	protein tyrosine phosphatase, receptor type, E	436	Tyrosine-protein phosphatase 2.				negative regulation of insulin receptor signaling pathway|protein phosphorylation	cytoplasm|integral to membrane|intermediate filament cytoskeleton|nucleus|plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	22		all_epithelial(44;1.66e-05)|all_lung(145;0.00456)|Lung NSC(174;0.0066)|all_neural(114;0.0936)|Colorectal(57;0.141)|Breast(234;0.166)|Melanoma(40;0.203)				ATTGACAAATGTCCGGATCAT	0.522													A	129869084	G	A	129869084	3	1	642	1	0	0	0	0	1	0	0	0	12888	1377	48	2	1395	2	PTPRE	10	129869084	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		129869084	5665663	27	51874											
MRPL17	63875	broad.mit.edu	37	chr11	6704527	6704527	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcgaccgacagccgcaTgtttccaacttctgcccgcc	7	8	9	17	4	1	0	0	0	1	0	2	2	2	0	5	0	5	3	5	0	1	2	rs140275479		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:6704527T>C	ENST00000288937.6	-	1	105	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_022061.3	NP_071344.1	Q9NRX2	RM17_HUMAN	mitochondrial ribosomal protein L17	1					translation	ribosome	protein domain specific binding|structural constituent of ribosome			lung(4)	4		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		GACAGCCGCATGTTTCCAACT	0.622											OREG0020719	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	6704527	T	C	6704527	1	2	642	1	0	0	0	0	0	0	0	0	9858	1464	51	3		3	MRPL17	11	6704527	Translation_Start_Site	SNP	T	TCGA-P5-A5F2-01A-11D-A289-08		6704527	128301989	28	51875											
OR5T3	390154	broad.mit.edu	37	chr11	56020474	56020474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgctaagggaaggcaaaagGccttctctacatgtggctct	10	10	11	10	0	2	0	0	0	2	0	3	1	2	1	1	4	2	3	1	4	5	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:56020474G>A	ENST00000303059.3	+	1	799	c.799G>A	c.(799-801)Gcc>Acc	p.A267T		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	267					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					AAGGCAAAAGGCCTTCTCTAC	0.423													A	56020474	G	A	56020474	3	1	642	1	0	0	0	0	1	0	0	0	11259	1203	42	2	801	2	OR5T3	11	56020474	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	49315947	56020474	78986042	29	51876											
ROBO3	64221	broad.mit.edu	37	chr11	124745490	124745491	+	Frame_Shift_Ins	INS	-	-	G																															cccccacagggagtggcggtINSggccttggggggtgatggca																								rs140619532	by1000genomes	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:124745490_124745491insG	ENST00000397801.1	+	15	2522_2523	c.2330_2331insG	c.(2329-2334)gtggccfs	p.A778fs	ROBO3_ENST00000538940.1_Frame_Shift_Ins_p.A756fs	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	778	Fibronectin type-III 3.				axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GGAGTGGCGGTGGCCTTGGGGG	0.604													G	124745491	-	G	124745490	7	5	642	1	0	1	1	0	0	0	0	0	13606	1696	59	0	2388	0	ROBO3	11	124745490	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08	68725016	124745490	10261026	30	51877											
GLB1L3	112937	broad.mit.edu	37	chr11	134147259	134147259	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agaatggcgggcatctttttCctgccatttatctcatcagg	8	14	9	10	1	3	1	2	0	2	1	5	1	4	1	2	3	1	1	2	3	2	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr11:134147259C>T	ENST00000389887.5	+	2	2559	c.63C>T	c.(61-63)ttC>ttT	p.F21F	GLB1L3_ENST00000431683.2_Silent_p.F21F			Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	21					carbohydrate metabolic process		cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		GCATCTTTTTCCTGCCATTTA	0.542													T	134147259	C	T	134147259	2	4	642	1	0	0	0	0	0	0	0	1	6486	854	30	2		2	GLB1L3	11	134147259	Silent	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	9401769	134147259	859257	31	51878											
ETV6	2120	broad.mit.edu	37	chr12	11992227	11992227	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaggactttcgctatcgatCtcctcattcaggtgagagtc	9	12	10	10	2	3	2	2	1	1	2	7	5	3	3	1	2	0	1	1	2	1	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:11992227C>G	ENST00000396373.4	+	3	591	c.317C>G	c.(316-318)tCt>tGt	p.S106C		NM_001987.4	NP_001978.1	P41212	ETV6_HUMAN	ets variant 6	106	PNT.					cytoplasm|nucleolus	protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.Y104fs*14(1)	ETV6/JAK2(11)|ETV6/ITPR2(2)|ETV6/NTRK3(238)	breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(15)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(2;1.88e-12)|Acute lymphoblastic leukemia(2;6.91e-39)|all_hematologic(2;2.7e-36)				CGCTATCGATCTCCTCATTCA	0.463			T	"NTRK3, RUNX1, PDGFRB, ABL1, MN1, ABL2, FACL6, CHIC2, ARNT, JAK2, EVI1, CDX2, STL, HLXB9, MDS2, PER1, SYK, TTL, FGFR3, PAX5"	"congenital fibrosarcoma, multiple leukemia and lymphoma,  secretory breast, MDS, ALL"								G	11992227	C	G	11992227	3	3	642	1	0	0	0	0	1	0	0	0	5324	913	32	4	327	4	ETV6	12	11992227	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08		11992227	121859668	32	51879											
NACA	4666	broad.mit.edu	37	chr12	57112308	57112308	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcccctttgggggatggAgtagctggacctcctttggg	4	10	18	9	0	0	0	0	0	0	0	1	3	1	3	4	7	1	2	4	7	1	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:57112308A>G	ENST00000454682.1	-	3	3287	c.3006T>C	c.(3004-3006)acT>acC	p.T1002T	NACA_ENST00000546392.1_Intron|NACA_ENST00000550952.1_Intron|NACA_ENST00000552540.1_Intron|NACA_ENST00000393891.4_Intron|NACA_ENST00000548563.1_Intron|NACA_ENST00000356769.3_Intron|NACA_ENST00000551793.1_Intron	NM_001113203.2	NP_001106674.2	Q13765	NACA_HUMAN	nascent polypeptide-associated complex alpha subunit	0					interspecies interaction between organisms|protein transport|transcription, DNA-dependent|translation	nascent polypeptide-associated complex|nucleus	DNA binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	10						TGGGGGATGGAGTAGCTGGAC	0.652			T	BCL6	NHL								G	57112308	A	G	57112308	2	3	642	1	0	0	0	0	0	0	0	1	10209	291	11	3		3	NACA	12	57112308	Silent	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	45120081	57112308	76739587	33	51880											
CNOT2	4848	broad.mit.edu	37	chr12	70726595	70726595	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcatttggaatgaataaCtccttatcaagtaacatttt	14	14	6	7	0	1	1	1	1	0	0	2	2	2	2	1	2	2	2	1	2	6	6			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr12:70726595C>G	ENST00000229195.3	+	7	1197	c.618C>G	c.(616-618)aaC>aaG	p.N206K	CNOT2_ENST00000548230.1_3'UTR|CNOT2_ENST00000418359.3_Missense_Mutation_p.N206K	NM_014515.5	NP_055330.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	206					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription from RNA polymerase II promoter	cytosol|nucleus	protein binding|RNA polymerase II transcription cofactor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GAATGAATAACTCCTTATCAA	0.318													G	70726595	C	G	70726595	3	3	642	1	0	0	0	0	1	0	0	0	3650	564	20	4	640	4	CNOT2	12	70726595	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	13614287	70726595	63125300	34	51881											
PCDH17	27253	broad.mit.edu	37	chr13	58207144	58207144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccgcttccccctcaccaGcgcacatgaccccgacgccg	7	4	7	23	5	1	1	1	1	0	0	2	2	2	1	7	0	1	2	7	0	0	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr13:58207144G>C	ENST00000377918.3	+	1	490	c.464G>C	c.(463-465)aGc>aCc	p.S155T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	155	Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CCCCTCACCAGCGCACATGAC	0.642													C	58207144	G	C	58207144	3	2	642	1	0	0	0	0	1	0	0	0	11588	971	34	4	466	4	PCDH17	13	58207144	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		58207144	56962734	35	51882											
SLC12A1	6557	broad.mit.edu	37	chr15	48559802	48559803	+	Frame_Shift_Ins	INS	-	-	A																															agatgaacagtggcatggcgINSaaaaaacaggcctggcttat																								rs150609105	byFrequency	TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr15:48559802_48559803insA	ENST00000396577.3	+	18	2414_2415	c.2199_2200insA	c.(2200-2202)aaafs	p.K734fs	SLC12A1_ENST00000380993.3_Frame_Shift_Ins_p.K734fs|SLC12A1_ENST00000558405.1_Frame_Shift_Ins_p.K734fs	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	734					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	GTGGCATGGCGAAAAAACAGGC	0.446													A	48559803	-	A	48559802	7	5	642	1	0	1	1	0	0	0	0	0	14476	1045	37	0	2365	0	SLC12A1	15	48559802	Frame_Shift_Ins	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		48559802	53971590	36	51883											
SLC12A3	6559	broad.mit.edu	37	chr16	56921899	56921899	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcaagaagaactggcaGtcggctcacccggccacagt	10	6	13	12	2	2	2	2	0	0	2	3	2	2	2	2	4	1	3	2	4	3	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr16:56921899G>A	ENST00000438926.2	+	18	2270	c.2241G>A	c.(2239-2241)caG>caA	p.Q747Q	SLC12A3_ENST00000262502.5_Silent_p.Q746Q|SLC12A3_ENST00000566786.1_Silent_p.Q746Q|SLC12A3_ENST00000563236.1_Silent_p.Q747Q	NM_000339.2|NM_001126107.1|NM_001126108.1	NP_000330|NP_001119579.1|NP_001119580.1	P55017	S12A3_HUMAN	solute carrier family 12 (sodium/chloride transporter), member 3	747					sodium ion transmembrane transport	apical plasma membrane|integral to plasma membrane|membrane fraction	sodium:chloride symporter activity			breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(28)|ovary(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50					Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Diazoxide(DB01119)|Hydrochlorothiazide(DB00999)|Metolazone(DB00524)|Polythiazide(DB01324)|Quinethazone(DB01325)	AGAACTGGCAGTCGGCTCACC	0.587													A	56921899	G	A	56921899	2	1	642	1	0	0	0	0	0	0	0	1	14478	1020	36	2		2	SLC12A3	16	56921899	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		56921899	33432854	37	51884											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	642	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		7577121	73618089	38	51885											
RHOT1	55288	broad.mit.edu	37	chr17	30503008	30503008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcatctgtatagtgtatgccGttaacaacaagcattctatt	12	15	6	8	1	3	0	1	0	2	0	3	0	3	0	1	0	4	4	1	0	7	7			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:30503008G>A	ENST00000358365.3	+	5	477	c.250G>A	c.(250-252)Gtt>Att	p.V84I	RHOT1_ENST00000583994.1_5'UTR|RHOT1_ENST00000580976.1_Intron|RHOT1_ENST00000394692.2_Missense_Mutation_p.V84I|RHOT1_ENST00000333942.6_Missense_Mutation_p.V84I|RHOT1_ENST00000354266.3_Missense_Mutation_p.V63I|RHOT1_ENST00000545287.2_Missense_Mutation_p.V84I|RHOT1_ENST00000581094.1_Missense_Mutation_p.V84I	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	84	Miro 1.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				AGTGTATGCCGTTAACAACAA	0.308													A	30503008	G	A	30503008	3	1	642	1	0	0	0	0	1	0	0	0	13432	1145	40	1	268	1	RHOT1	17	30503008	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	22925887	30503008	50692202	39	51886											
MPO	4353	broad.mit.edu	37	chr17	56355276	56355276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggcagcagggcccggccGttgtcttggaagcgctggtt	6	8	17	10	3	1	0	0	0	1	0	1	1	1	1	2	5	2	5	2	5	2	3			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:56355276G>A	ENST00000340482.3	-	6	1388	c.1212C>T	c.(1210-1212)aaC>aaT	p.N404N	MPO_ENST00000225275.3_Silent_p.N372N|MPO_ENST00000578493.1_5'UTR			P05164	PERM_HUMAN	myeloperoxidase	372					anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Cefdinir(DB00535)	GGGCCCGGCCGTTGTCTTGGA	0.652													A	56355276	G	A	56355276	2	1	642	1	0	0	0	0	0	0	0	1	9808	1136	40	1		1	MPO	17	56355276	Silent	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	25852268	56355276	24839934	40	51887											
SCN4A	6329	broad.mit.edu	37	chr17	62036690	62036690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctagctctaccaggctgaGggtgacgatgatgctgtcga	8	9	14	10	2	1	3	0	3	1	0	2	5	1	3	2	2	3	3	2	2	2	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:62036690G>A	ENST00000578147.1	-	12	2030	c.1954C>T	c.(1954-1956)Ctc>Ttc	p.L652F	SCN4A_ENST00000435607.1_Missense_Mutation_p.L652F			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	652					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACCAGGCTGAGGGTGACGATG	0.562													A	62036690	G	A	62036690	3	1	642	1	0	0	0	0	1	0	0	0	14013	1000	35	2	3608	2	SCN4A	17	62036690	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	5681414	62036690	19158520	41	51888											
CD300LB	124599	broad.mit.edu	37	chr17	72522000	72522000	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccatggtcacagtgaacGtgcggtctttctgattgtcc	6	13	10	12	2	3	2	1	2	2	0	5	2	5	2	3	2	2	0	3	2	1	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr17:72522000G>A	ENST00000392621.1	-	2	372	c.368C>T	c.(367-369)aCg>aTg	p.T123M	CD300LB_ENST00000314401.3_Missense_Mutation_p.T123M	NM_174892.2	NP_777552	A8K4G0	CLM7_HUMAN	CD300 molecule-like family member b	86						integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|prostate(1)|skin(1)	21						CACAGTGAACGTGCGGTCTTT	0.522													A	72522000	G	A	72522000	3	1	642	1	0	0	0	0	1	0	0	0	3029	1145	40	1	360	1	CD300LB	17	72522000	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	10485310	72522000	8673210	42	51889											
IL27RA	9466	broad.mit.edu	37	chr19	14157389	14157389	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccctggagaaactcaactGggtccggcttccccctggga	7	7	11	16	1	1	1	1	0	0	1	3	3	3	2	5	4	2	1	5	4	2	1			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:14157389G>A	ENST00000263379.2	+	8	1225	c.1100G>A	c.(1099-1101)tGg>tAg	p.W367*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	367	Fibronectin type-III 2.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						AAACTCAACTGGGTCCGGCTT	0.632													A	14157389	G	A	14157389	4	1	642	1	0	0	0	0	0	1	0	0	7739	1357	47	2	1130	2	IL27RA	19	14157389	Nonsense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		14157389	44971594	43	51890											
USE1	55850	broad.mit.edu	37	chr19	17330605	17330605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcctcttcattcgaatcAtgcctaaactcaaataaaga	15	12	4	10	1	4	2	3	1	1	1	6	3	5	2	2	0	2	0	2	0	6	4			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr19:17330605A>G	ENST00000445667.2	+	8	823	c.763A>G	c.(763-765)Atg>Gtg	p.M255V	USE1_ENST00000596136.1_3'UTR|USE1_ENST00000379776.4_3'UTR|USE1_ENST00000263897.5_Missense_Mutation_p.M255V			Q9NZ43	USE1_HUMAN	unconventional SNARE in the ER 1 homolog (S. cerevisiae)	255					lysosomal transport|protein catabolic process|protein transport|secretion by cell|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|endometrium(1)|lung(3)	6						CATTCGAATCATGCCTAAACT	0.522													G	17330605	A	G	17330605	3	3	642	1	0	0	0	0	1	0	0	0	17133	217	8	3	793	3	USE1	19	17330605	Missense_Mutation	SNP	A	TCGA-P5-A5F2-01A-11D-A289-08	3173216	17330605	41798378	44	51891											
IFNAR1	3454	broad.mit.edu	37	chr21	34717551	34717551	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctgttctttggcttctaGttgaaaatgaactacctcca	10	16	6	9	0	3	2	0	2	3	0	4	2	4	2	2	1	2	3	2	1	6	7			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chr21:34717551G>C	ENST00000270139.3	+	6	825		c.e6-1		IFNAR1_ENST00000416947.2_Splice_Site|IFNAR1_ENST00000442357.2_Splice_Site	NM_000629.2	NP_000620.2	P17181	INAR1_HUMAN	interferon (alpha, beta and omega) receptor 1						JAK-STAT cascade|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	integral to plasma membrane	type I interferon receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|skin(2)	14					Interferon Alfa-2a, Recombinant(DB00034)|Interferon Alfa-2b, Recombinant(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)	TTGGCTTCTAGTTGAAAATGA	0.328													C	34717551	G	C	34717551	5	2	642	1	0	0	0	0	0	0	1	0	7602	1043	36	4	695	4	IFNAR1	21	34717551	Splice_Site	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08		34717551	13412344	45	51892											
ATRX	546	broad.mit.edu	37	chrX	76920192	76920193	+	Translation_Start_Site	INS	-	-	TCATCAT																															tttttttcccttcttctggcINStcatcatctgaagatccatc																										TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:76920192_76920193insTCATCAT	ENST00000480283.1	-	0	4221_4222				ATRX_ENST00000395603.3_Frame_Shift_Ins_p.-1257fs|ATRX_ENST00000373344.5_Frame_Shift_Ins_p.-1295fs			P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	CTTCTTCTGGCTCATCATCTGA	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						TCATCAT	76920193	-	TCATCAT	76920192	6	5	642	1	0	1	1	0	0	0	0	0	1213	796	28	0		0	ATRX	23	76920192	Translation_Start_Site	INS	-	TCGA-P5-A5F2-01A-11D-A289-08		76920192	78350368	46	51893											
GUCY2F	2986	broad.mit.edu	37	chrX	108718947	108718947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atggctaatcgcgcagcaacCtcaggcagggcctttgaaaa	12	7	11	11	2	1	1	1	1	0	0	2	1	1	1	2	3	2	4	2	3	4	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:108718947C>A	ENST00000218006.2	-	2	510	c.219G>T	c.(217-219)gaG>gaT	p.E73D		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	73					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						GCGCAGCAACCTCAGGCAGGG	0.517											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	108718947	C	A	108718947	3	1	642	1	0	0	0	0	1	0	0	0	6953	680	24	4	3179	4	GUCY2F	23	108718947	Missense_Mutation	SNP	C	TCGA-P5-A5F2-01A-11D-A289-08	31798755	108718947	46551613	47	51894											
MAGEA6	4105	broad.mit.edu	37	chrX	151870086	151870086	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaactacctggagtaccGgcaggtccccggcagtgatc	10	6	13	12	2	0	1	0	1	0	0	2	3	1	3	4	5	3	3	4	5	4	2			TCGA-P5-A5F2-01A-11D-A289-08	TCGA-P5-A5F2-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37d51361-c4ad-4907-b18f-66991749ba1f	666497c6-2a20-4949-9a09-13e17e2a00f9	g.chrX:151870086G>A	ENST00000329342.5	+	3	1001	c.776G>A	c.(775-777)cGg>cAg	p.R259Q		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE.						protein binding	p.R259Q(1)		breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					CTGGAGTACCGGCAGGTCCCC	0.522													A	151870086	G	A	151870086	3	1	642	1	0	0	0	0	1	0	0	0	9243	1116	39	1	778	1	MAGEA6	23	151870086	Missense_Mutation	SNP	G	TCGA-P5-A5F2-01A-11D-A289-08	43151139	151870086	3400474	48	51895											
NUP210L	91181	broad.mit.edu	37	chr1	154062057	154062057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctggatgatttccaattCggaatgtgagaacctttaag	12	12	9	8	1	0	2	0	2	0	1	2	5	1	4	3	2	1	0	3	2	4	4			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr1:154062057C>T	ENST00000368559.3	-	16	2272	c.2201G>A	c.(2200-2202)cGa>cAa	p.R734Q	NUP210L_ENST00000271854.3_Missense_Mutation_p.R734Q	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	734						integral to membrane				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			ATTTCCAATTCGGAATGTGAG	0.423													T	154062057	C	T	154062057	3	4	643	1	0	0	0	0	1	0	0	0	10837	884	31	1	3565	1	NUP210L	1	154062057	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		154062057	95188564	1	51896											
DQX1	165545	broad.mit.edu	37	chr2	74750021	74750021	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacactcccctggctctgcaAtctgtctcctttttagtagt	6	15	7	13	0	3	0	0	0	3	0	5	1	4	0	3	1	1	3	3	1	3	4			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:74750021A>G	ENST00000404568.3	-	7	1484	c.1265T>C	c.(1264-1266)aTt>aCt	p.I422T	DQX1_ENST00000393951.2_Missense_Mutation_p.I422T	NM_133637.2	NP_598376.2	Q8TE96	DQX1_HUMAN	DEAQ box RNA-dependent ATPase 1	422	Helicase C-terminal.					nucleus	ATP binding|helicase activity|nucleic acid binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(1)	18						TGGCTCTGCAATCTGTCTCCT	0.522													G	74750021	A	G	74750021	3	3	643	1	0	0	0	0	1	0	0	0	4790	101	4	3	912	3	DQX1	2	74750021	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		74750021	168449352	2	51897											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	643	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	134363092	209113113	34086260	3	51898											
FANCD2	2177	broad.mit.edu	37	chr3	10107141	10107141	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactttgtgtggagagacaGcataacggaaacttggagga	14	8	14	5	1	0	2	0	0	0	2	0	7	0	6	0	4	3	1	0	4	2	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:10107141G>A	ENST00000287647.3	+	24	2325	c.2232G>A	c.(2230-2232)caG>caA	p.Q744Q	FANCD2_ENST00000383807.1_Silent_p.Q744Q|FANCD2_ENST00000383806.1_Silent_p.Q744Q|FANCD2_ENST00000419585.1_Silent_p.Q744Q	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	744					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		TGGAGAGACAGCATAACGGAA	0.428			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10107141	G	A	10107141	2	1	643	1	0	0	0	0	0	0	0	1	5714	962	34	2		2	FANCD2	3	10107141	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		10107141	187915289	4	51899											
STT3B	201595	broad.mit.edu	37	chr3	31638330	31638330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagttttttggacaatgtGctgctgcttatcctatttct	6	19	8	8	0	2	0	1	0	1	0	3	1	3	1	1	1	3	4	1	1	3	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:31638330G>A	ENST00000295770.2	+	4	961	c.752G>A	c.(751-753)tGc>tAc	p.C251Y	STT3B_ENST00000453168.1_3'UTR	NM_178862.1	NP_849193.1	Q8TCJ2	STT3B_HUMAN	STT3B, subunit of the oligosaccharyltransferase complex (catalytic)	251					protein N-linked glycosylation via asparagine	integral to membrane|oligosaccharyltransferase complex	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			autonomic_ganglia(1)|biliary_tract(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	19						TGGACAATGTGCTGCTGCTTA	0.318													A	31638330	G	A	31638330	3	1	643	1	0	0	0	0	1	0	0	0	15430	1319	46	2	766	2	STT3B	3	31638330	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	21531189	31638330	166384100	5	51900											
GATA2	2624	broad.mit.edu	37	chr3	128202816	128202816	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgccagagaggggtggCtgtggccccacagttgacac	7	5	15	14	2	0	2	0	1	0	1	0	3	0	2	5	4	0	2	5	4	0	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:128202816C>T	ENST00000341105.2	-	4	1235	c.904G>A	c.(904-906)Gcc>Acc	p.A302T	GATA2_ENST00000430265.2_Missense_Mutation_p.A302T|GATA2_ENST00000487848.1_Missense_Mutation_p.A302T	NM_032638.4	NP_116027.2	P23769	GATA2_HUMAN	GATA binding protein 2	302					blood coagulation|negative regulation of fat cell differentiation|negative regulation of fat cell proliferation|negative regulation of neural precursor cell proliferation|negative regulation of Notch signaling pathway|phagocytosis|positive regulation of angiogenesis|positive regulation of phagocytosis|positive regulation of transcription from RNA polymerase II promoter	nucleoplasm	C2H2 zinc finger domain binding|chromatin binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	p.A302S(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(58)|kidney(2)|large_intestine(3)|lung(9)|prostate(3)|skin(1)|urinary_tract(1)	79				GBM - Glioblastoma multiforme(114;0.173)		AGAGGGGTGGCTGTGGCCCCA	0.642			Mis		AML(CML blast transformation)								T	128202816	C	T	128202816	3	4	643	1	0	0	0	0	1	0	0	0	6308	797	28	2	550	2	GATA2	3	128202816	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	96564486	128202816	69819614	6	51901											
SMC4	10051	broad.mit.edu	37	chr3	160122126	160122126	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaaacaggaaggggatgAttatgaagtcattcctaaca	16	9	9	7	0	2	2	2	2	0	0	3	4	3	4	1	3	2	0	1	3	6	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr3:160122126A>C	ENST00000357388.3	+	5	972	c.521A>C	c.(520-522)gAt>gCt	p.D174A	RP11-432B6.3_ENST00000483754.1_Intron|SMC4_ENST00000360111.2_Missense_Mutation_p.D174A|SMC4_ENST00000470240.1_3'UTR|SMC4_ENST00000462787.1_Missense_Mutation_p.D174A|SMC4_ENST00000469762.1_Missense_Mutation_p.D149A|SMC4_ENST00000344722.5_Missense_Mutation_p.D174A	NM_001002800.1	NP_001002800.1	Q9NTJ3	SMC4_HUMAN	structural maintenance of chromosomes 4	174					cell division|mitotic chromosome condensation	condensin complex|cytoplasm|nucleus	ATP binding|protein heterodimerization activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(15)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	48			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			GAAGGGGATGATTATGAAGTC	0.338													C	160122126	A	C	160122126	3	2	643	1	0	0	0	0	1	0	0	0	14879	333	12	5	535	5	SMC4	3	160122126	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	31919310	160122126	37900304	7	51902											
KLB	152831	broad.mit.edu	37	chr4	39448955	39448955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgattccctggggggtgcGcaagctgctgcggtgggtcc	3	10	18	10	2	0	1	0	1	0	0	2	1	2	1	2	5	4	3	2	5	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr4:39448955G>A	ENST00000257408.4	+	4	2706	c.2609G>A	c.(2608-2610)cGc>cAc	p.R870H		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	870	Glycosyl hydrolase-1 2.				carbohydrate metabolic process	integral to membrane|plasma membrane	cation binding|fibroblast growth factor binding|hydrolase activity, hydrolyzing O-glycosyl compounds			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TGGGGGGTGCGCAAGCTGCTG	0.657													A	39448955	G	A	39448955	3	1	643	1	0	0	0	0	1	0	0	0	8390	1087	38	1	2623	1	KLB	4	39448955	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		39448955	151705321	8	51903											
PRDM1	639	broad.mit.edu	37	chr6	106553787	106553787	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacgtttgcgccaagactttCggccagctctccaatctgaa	10	10	8	13	3	2	2	0	1	2	1	4	2	2	2	3	1	3	2	3	1	4	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr6:106553787C>T	ENST00000369096.4	+	5	1986	c.1752C>T	c.(1750-1752)ttC>ttT	p.F584F	PRDM1_ENST00000369091.2_Silent_p.F548F|PRDM1_ENST00000369089.3_Silent_p.F450F	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	584					negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	p.?(1)		NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		CCAAGACTTTCGGCCAGCTCT	0.493			"D, N, Mis, F, S"		DLBCL								T	106553787	C	T	106553787	2	4	643	1	0	0	0	0	0	0	0	1	12536	883	31	1		1	PRDM1	6	106553787	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		106553787	64561280	9	51904											
KLHL7	55975	broad.mit.edu	37	chr7	23213883	23213883	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaatttgtgttgtcgataCttgtggagcaaatgaagaga	12	15	11	3	1	0	2	0	1	0	1	1	5	0	3	0	1	2	2	0	1	4	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:23213883C>G	ENST00000339077.5	+	11	1970	c.1727C>G	c.(1726-1728)aCt>aGt	p.T576S	KLHL7_ENST00000322231.7_Missense_Mutation_p.T554S|KLHL7_ENST00000539124.1_Missense_Mutation_p.T500S|AC005082.1_ENST00000366347.4_Intron|KLHL7_ENST00000409689.1_Missense_Mutation_p.T528S|KLHL7_ENST00000542558.1_Missense_Mutation_p.T351S|KLHL7_ENST00000545443.1_Missense_Mutation_p.T554S	NM_001031710.2	NP_001026880.2	Q8IXQ5	KLHL7_HUMAN	kelch-like family member 7							Golgi apparatus|nucleolus|plasma membrane				breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GTTGTCGATACTTGTGGAGCA	0.408													G	23213883	C	G	23213883	3	3	643	1	0	0	0	0	1	0	0	0	8452	565	20	4	1832	4	KLHL7	7	23213883	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		23213883	135924780	10	51905											
ZNF117	51351	broad.mit.edu	37	chr7	64441776	64441776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacttacctaaatgtttaGctaccatctcatgtctcttc	9	16	3	13	0	3	0	2	0	2	0	6	0	3	0	2	0	3	2	2	0	5	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:64441776G>A	ENST00000282869.6	-	3	1307	c.23C>T	c.(22-24)gCt>gTt	p.A8V		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				TAAATGTTTAGCTACCATCTC	0.423													A	64441776	G	A	64441776	3	1	643	1	0	0	0	0	1	0	0	0	17818	971	34	2	1436	2	ZNF117	7	64441776	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	41227893	64441776	94696887	11	51906											
ZKSCAN1	7586	broad.mit.edu	37	chr7	99631511	99631511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactctggagagaaaccttaTgaatgtaatgagtgcgggaa	14	9	12	6	1	1	3	0	2	1	1	1	6	1	5	1	2	2	1	1	2	5	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr7:99631511T>C	ENST00000324306.6	+	6	1617	c.1383T>C	c.(1381-1383)taT>taC	p.Y461Y	ZKSCAN1_ENST00000535170.1_Silent_p.Y248Y|ZKSCAN1_ENST00000426572.1_Silent_p.Y425Y	NM_003439.1	NP_003430.1	P17029	ZKSC1_HUMAN	zinc finger with KRAB and SCAN domains 1	461					viral reproduction	mitochondrion|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGAAACCTTATGAATGTAATG	0.502													C	99631511	T	C	99631511	2	2	643	1	0	0	0	0	0	0	0	1	17787	1471	51	3		3	ZKSCAN1	7	99631511	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	35189735	99631511	59507152	12	51907											
GATA4	2626	broad.mit.edu	37	chr8	11606556	11606556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctctaccacaagatgaacGgcatcaaccggccgctcatc	11	6	8	16	3	3	2	2	1	1	1	4	2	3	2	4	2	3	2	4	2	4	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:11606556G>A	ENST00000335135.4	+	3	1303	c.745G>A	c.(745-747)Ggc>Agc	p.G249S	GATA4_ENST00000528712.1_Missense_Mutation_p.G43S|GATA4_ENST00000532059.1_Missense_Mutation_p.G250S	NM_002052.3	NP_002043.2	P43694	GATA4_HUMAN	GATA binding protein 4	249					atrial septum primum morphogenesis|atrial septum secundum morphogenesis|blood coagulation|cardiac right ventricle morphogenesis|cell-cell signaling|embryonic foregut morphogenesis|embryonic heart tube anterior/posterior pattern formation|endocardial cushion development|endoderm development|heart looping|intestinal epithelial cell differentiation|male gonad development|positive regulation of angiogenesis|positive regulation of cardioblast differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation vascular endothelial growth factor production|response to drug|transcription from RNA polymerase II promoter|ventricular septum development	nucleoplasm	activating transcription factor binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(10)	13	all_epithelial(15;0.0839)		STAD - Stomach adenocarcinoma(15;0.00225)	COAD - Colon adenocarcinoma(149;0.199)		CAAGATGAACGGCATCAACCG	0.637													A	11606556	G	A	11606556	3	1	643	1	0	0	0	0	1	0	0	0	6310	1116	39	1	751	1	GATA4	8	11606556	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		11606556	134757466	13	51908											
C8orf47	203111	broad.mit.edu	37	chr8	99102249	99102249	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactaatgaagaggaccaacGcattgaaggtaaaagttatg	17	9	10	5	1	0	3	0	2	0	1	0	4	0	4	1	2	2	3	1	2	8	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr8:99102249G>A	ENST00000318528.3	+	2	1363	c.1004G>A	c.(1003-1005)cGc>cAc	p.R335H	C8orf47_ENST00000545282.1_Intron	NM_173549.2	NP_775820.2	Q6P6B1	CH047_HUMAN	chromosome 8 open reading frame 47	335	Glu-rich.									kidney(1)|large_intestine(5)|lung(4)|prostate(1)|skin(2)	13	Breast(36;2.31e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.214)			GAGGACCAACGCATTGAAGGT	0.483													A	99102249	G	A	99102249	3	1	643	1	0	0	0	0	1	0	0	0	2457	1087	38	1	1010	1	C8orf47	8	99102249	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	87495693	99102249	47261773	14	51909											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112918731	112918731	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagaccctcatggaagactAtgagacacacaaatctaaaa	18	6	7	10	0	2	3	1	1	1	3	2	5	2	4	1	1	0	1	1	1	5	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr9:112918731A>G	ENST00000374530.3	+	9	3308	c.3128A>G	c.(3127-3129)tAt>tGt	p.Y1043C	AKAP2_ENST00000259318.7_Missense_Mutation_p.Y812C|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000555236.1_Missense_Mutation_p.Y1043C|AKAP2_ENST00000434623.2_Missense_Mutation_p.Y901C|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Y1043C|AKAP2_ENST00000510514.5_Missense_Mutation_p.Y1043C|AKAP2_ENST00000374525.1_Missense_Mutation_p.Y901C	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		812							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						ATGGAAGACTATGAGACACAC	0.537													G	112918731	A	G	112918731	3	3	643	1	0	0	0	0	1	0	0	0	11486	449	16	3	3162	3	PALM2-AKAP2	9	112918731	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		112918731	28294700	15	51910											
EMX2	2018	broad.mit.edu	37	chr10	119303012	119303012	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgaggcggtctcgcacccGcccaaccccgccgtgccagt	5	4	12	20	6	1	0	0	0	1	0	2	1	1	0	7	2	2	1	7	2	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr10:119303012G>C	ENST00000553456.3	+	1	1058	c.234G>C	c.(232-234)ccG>ccC	p.P78P	EMX2OS_ENST00000551288.1_RNA|EMX2_ENST00000442245.4_Silent_p.P78P	NM_004098.3	NP_004089.1	Q04743	EMX2_HUMAN	empty spiracles homeobox 2	78						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(5)|lung(2)|ovary(1)|prostate(2)	12		Colorectal(252;0.109)|Lung NSC(174;0.179)|all_lung(145;0.22)		all cancers(201;0.0133)		TCTCGCACCCGCCCAACCCCG	0.741													C	119303012	G	C	119303012	2	2	643	1	0	0	0	0	0	0	0	1	5149	1074	38	4		4	EMX2	10	119303012	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		119303012	16231735	16	51911											
PKP3	11187	broad.mit.edu	37	chr11	397651	397651	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctacagcgatgcagccGccaagaagcaggtgaccacc	12	4	12	13	2	0	2	0	1	0	1	0	3	0	2	4	1	6	3	4	1	3	1	rs148819261		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:397651G>A	ENST00000331563.2	+	4	1133	c.1057G>A	c.(1057-1059)Gcc>Acc	p.A353T		NM_007183.2	NP_009114.1	Q9Y446	PKP3_HUMAN	plakophilin 3	353					cell adhesion	desmosome|nucleus	binding			breast(1)|central_nervous_system(1)|endometrium(3)|lung(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(49;3.02e-09)|all_epithelial(84;2.09e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;1.56e-27)|Epithelial(43;9.31e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0182)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGATGCAGCCGCCAAGAAGCA	0.637													A	397651	G	A	397651	3	1	643	1	0	0	0	0	1	0	0	0	12063	1087	38	1	1071	1	PKP3	11	397651	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		397651	134608865	17	51912											
AP2A2	161	broad.mit.edu	37	chr11	986944	986944	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacatcgagacggtcatcaaCgccctgaaggcgagtgccct	10	6	11	14	4	2	2	2	1	0	1	3	4	2	2	2	2	2	0	2	2	2	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:986944C>T	ENST00000448903.2	+	9	1263	c.1122C>T	c.(1120-1122)aaC>aaT	p.N374N	AP2A2_ENST00000332231.5_Silent_p.N375N|AP2A2_ENST00000534328.1_Intron	NM_001242837.1|NM_012305.3	NP_001229766.1|NP_036437.1	O94973	AP2A2_HUMAN	adaptor-related protein complex 2, alpha 2 subunit	374					axon guidance|endocytosis|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway|nerve growth factor receptor signaling pathway|regulation of defense response to virus by virus|synaptic transmission|viral reproduction	AP-2 adaptor complex|cytosol	lipid binding|protein transporter activity			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(6)|ovary(2)	21		all_cancers(49;9.46e-06)|Breast(177;0.00257)|all_epithelial(84;0.0027)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;1.75e-24)|BRCA - Breast invasive adenocarcinoma(625;5.73e-05)|Lung(200;0.0696)|LUSC - Lung squamous cell carcinoma(625;0.082)		CGGTCATCAACGCCCTGAAGG	0.617													T	986944	C	T	986944	2	4	643	1	0	0	0	0	0	0	0	1	742	535	19	1		1	AP2A2	11	986944	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	589293	986944	134019572	18	51913											
PRDM11	56981	broad.mit.edu	37	chr11	45117366	45117366	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtagggttcaatgttgaagAtggcagagccaattgcatcc	11	10	13	7	0	1	3	1	1	0	2	2	3	2	3	2	3	2	5	2	3	4	4			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:45117366A>G	ENST00000263765.4	+	2	259	c.10A>G	c.(10-12)Atg>Gtg	p.M4V	PRDM11_ENST00000530656.1_Missense_Mutation_p.M4V			Q9NQV5	PRD11_HUMAN	PR domain containing 11	4										endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	26						aatgttgaagatggcagagcc	0.507													G	45117366	A	G	45117366	3	3	643	1	0	0	0	0	1	0	0	0	12538	333	12	3	12	3	PRDM11	11	45117366	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08	44130422	45117366	89889150	19	51914											
OR5D18	219438	broad.mit.edu	37	chr11	55587452	55587452	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtcactgaatcctttttatTagctgtgatggcctatgacc	8	15	9	9	0	1	3	1	3	0	0	2	3	2	3	3	2	1	1	3	2	4	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:55587452T>G	ENST00000333976.4	+	1	367	c.347T>G	c.(346-348)tTa>tGa	p.L116*		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	116					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				TCCTTTTTATTAGCTGTGATG	0.443													G	55587452	T	G	55587452	4	3	643	1	0	0	0	0	0	1	0	0	11233	1764	61	5	349	5	OR5D18	11	55587452	Nonsense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	10470086	55587452	79419064	20	51915											
TMEM216	51259	broad.mit.edu	37	chr11	61161357	61161357	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcttttgtattggcaggTgtcctgctaccatatccaac	7	14	9	11	0	0	0	0	0	0	0	2	0	2	0	3	3	3	4	3	3	4	6			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:61161357T>G	ENST00000515837.2	+	3	1083	c.138T>G	c.(136-138)ggT>ggG	p.G46G	TMEM216_ENST00000398979.3_5'UTR|TMEM216_ENST00000334888.5_Splice_Site_p.G46G			Q9P0N5	TM216_HUMAN	transmembrane protein 216	39						integral to membrane		p.G46G(3)		endometrium(1)|large_intestine(2)|lung(1)|prostate(2)	6						TATTGGCAGGTGTCCTGCTAC	0.438													G	61161357	T	G	61161357	5	3	643	1	0	0	0	0	0	0	1	0	16239	1710	59	5	148	5	TMEM216	11	61161357	Splice_Site	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	5573905	61161357	73845159	21	51916											
PDE2A	5138	broad.mit.edu	37	chr11	72292936	72292936	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaaccgggccagggtcgggCagtcaattttgtagttgttg	7	11	15	8	3	1	0	1	0	0	0	2	1	1	0	2	3	1	4	2	3	3	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr11:72292936C>A	ENST00000334456.5	-	22	2152	c.1907G>T	c.(1906-1908)tGc>tTc	p.C636F	PDE2A_ENST00000444035.2_Missense_Mutation_p.C627F|PDE2A_ENST00000376450.3_Missense_Mutation_p.C380F|PDE2A_ENST00000418754.2_Missense_Mutation_p.C521F|PDE2A_ENST00000540345.1_Missense_Mutation_p.C627F|PDE2A_ENST00000544570.1_Missense_Mutation_p.C629F	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	636	Catalytic (By similarity).				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CAGGGTCGGGCAGTCAATTTT	0.577													A	72292936	C	A	72292936	3	1	643	1	0	0	0	0	1	0	0	0	11712	710	25	4	958	4	PDE2A	11	72292936	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	11131579	72292936	62713580	22	51917											
ANO2	57101	broad.mit.edu	37	chr12	5708718	5708718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtctaggtcccactgctctGgatgtttcgaatgggcagag	8	11	13	9	1	2	1	0	0	2	1	4	3	3	2	1	3	1	3	1	3	2	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:5708718G>A	ENST00000327087.8	-	21	2236	c.2165C>T	c.(2164-2166)cCa>cTa	p.P722L	ANO2_ENST00000546188.1_Missense_Mutation_p.P723L|ANO2_ENST00000356134.5_Missense_Mutation_p.P723L	NM_001278597.1	NP_001265526.1	Q9NQ90	ANO2_HUMAN	anoctamin 2	727						chloride channel complex|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(1)	58						CCACTGCTCTGGATGTTTCGA	0.473													A	5708718	G	A	5708718	3	1	643	1	0	0	0	0	1	0	0	0	697	1348	47	2	855	2	ANO2	12	5708718	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		5708718	128143177	23	51918											
LAG3	3902	broad.mit.edu	37	chr12	6882941	6882942	+	Frame_Shift_Ins	INS	-	-	C																															cctcctcctgggggcccaggINSccccgccgctacacggtgct																										TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6882941_6882942insC	ENST00000203629.2	+	3	618_619	c.285_286insC	c.(286-288)cccfs	p.P96fs	LAG3_ENST00000441671.2_Frame_Shift_Ins_p.P96fs	NM_002286.5	NP_002277.4	P18627	LAG3_HUMAN	lymphocyte-activation gene 3	96	Ig-like V-type.					integral to membrane	antigen binding|MHC class II protein binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	17						GGGGGCCCAGGCCCCGCCGCTA	0.792													C	6882942	-	C	6882941	7	5	643	1	0	1	1	0	0	0	0	0	8659	1194	42	0	295	0	LAG3	12	6882941	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	1174223	6882941	126968954	24	51919											
GPR162	27239	broad.mit.edu	37	chr12	6933811	6933811	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccattgtggtggaggatgcCcgagggaagcggcggtcctc	6	7	18	10	3	0	0	0	0	0	0	2	4	1	3	3	6	2	0	3	6	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:6933811C>A	ENST00000311268.3	+	2	1534	c.747C>A	c.(745-747)gcC>gcA	p.A249A	GPR162_ENST00000382315.3_Intron|GPR162_ENST00000428545.2_Intron	NM_019858.1	NP_062832.1	Q16538	GP162_HUMAN	G protein-coupled receptor 162	249						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(1)	18						TGGAGGATGCCCGAGGGAAGC	0.642													A	6933811	C	A	6933811	2	1	643	1	0	0	0	0	0	0	0	1	6720	610	22	4		4	GPR162	12	6933811	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	50870	6933811	126918084	25	51920											
PEX5	5830	broad.mit.edu	37	chr12	7362771	7362771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgcctatggggcagccgaCgcgcgggatctgtccaccct	6	7	14	14	4	1	0	0	0	1	0	2	3	2	1	4	3	2	1	4	3	1	1	rs148914171	byFrequency	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:7362771C>T	ENST00000266563.5	+	15	1944	c.1761C>T	c.(1759-1761)gaC>gaT	p.D587D	PEX5_ENST00000434354.2_Silent_p.D639D|PEX5_ENST00000266564.3_Silent_p.D616D|PEX5_ENST00000412720.2_Silent_p.D645D|PEX5_ENST00000455147.2_Silent_p.D624D|PEX5_ENST00000420616.2_Silent_p.D624D	NM_001131024.1	NP_001124496.1	P50542	PEX5_HUMAN	peroxisomal biogenesis factor 5	624					protein import into peroxisome matrix, translocation|protein targeting to peroxisome|protein tetramerization|protein transport	cytosol|peroxisomal matrix|peroxisomal membrane	peroxisome matrix targeting signal-1 binding|protein C-terminus binding|protein N-terminus binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)	21						GGGCAGCCGACGCGCGGGATC	0.627													T	7362771	C	T	7362771	2	4	643	1	0	0	0	0	0	0	0	1	11825	535	19	1		1	PEX5	12	7362771	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	428960	7362771	126489124	26	51921											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028269	21028269	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attatttcttccataccattTtttttcttgccgaaaaatcc	10	19	2	10	1	2	0	0	0	2	0	4	1	4	0	4	0	2	0	4	0	4	9			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:21028269T>C	ENST00000381545.3	+	9	1047	c.828T>C	c.(826-828)ttT>ttC	p.F276F	SLCO1B3_ENST00000261196.2_Silent_p.F276F|SLCO1B7_ENST00000554957.1_Intron|LST3_ENST00000540229.1_Silent_p.F276F|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000553473.1_Silent_p.F276F	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	276					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					CCATACCATTTTTTTTCTTGC	0.358													C	21028269	T	C	21028269	2	2	643	1	0	0	0	0	0	0	0	1	14818	1838	64	3		3	SLCO1B3	12	21028269	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	13665498	21028269	112823626	27	51922											
KRT73	319101	broad.mit.edu	37	chr12	53010008	53010008	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctccgagtccagcctcaCcctgtccccagacagcgtct	7	7	8	19	2	2	1	1	0	1	1	5	2	5	1	6	0	3	1	6	0	0	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:53010008C>G	ENST00000305748.3	-	2	638	c.604G>C	c.(604-606)Gtg>Ctg	p.V202L		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	202	Coil 1B.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGCCTCACCCTGTCCCCA	0.612													G	53010008	C	G	53010008	3	3	643	1	0	0	0	0	1	0	0	0	8544	507	18	4	1050	4	KRT73	12	53010008	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	31981739	53010008	80841887	28	51923											
ITGA5	3678	broad.mit.edu	37	chr12	54795993	54795993	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tctgacgagtcctgagtactCagcctctggaggggcggtga	7	9	15	10	2	3	3	1	3	2	0	4	5	4	4	2	4	2	1	2	4	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:54795993C>G	ENST00000293379.4	-	20	2365	c.2104G>C	c.(2104-2106)Gag>Cag	p.E702Q	RP11-753H16.5_ENST00000552785.1_RNA|RP11-753H16.3_ENST00000550474.1_RNA	NM_002205.2	NP_002196.2	P08648	ITA5_HUMAN	integrin, alpha 5 (fibronectin receptor, alpha polypeptide)	702					angiogenesis|axon guidance|blood coagulation|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|wound healing, spreading of epidermal cells	alphav-beta3 integrin-vitronectin complex|integrin complex|ruffle	platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	34						CCTGAGTACTCAGCCTCTGGA	0.587													G	54795993	C	G	54795993	3	3	643	1	0	0	0	0	1	0	0	0	7937	835	29	4	1089	4	ITGA5	12	54795993	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	1785985	54795993	79055902	29	51924											
PTPRB	5787	broad.mit.edu	37	chr12	70949900	70949900	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccgtggagttctgaggccgGcaatgcaggttttgtatctt	6	13	14	8	2	2	1	0	1	2	0	2	2	2	2	2	4	1	5	2	4	2	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr12:70949900G>A	ENST00000334414.6	-	19	4787	c.4743C>T	c.(4741-4743)tgC>tgT	p.C1581C	PTPRB_ENST00000538708.1_Silent_p.C1273C|PTPRB_ENST00000261266.5_Silent_p.C1363C|PTPRB_ENST00000451516.2_Silent_p.C1273C|PTPRB_ENST00000550358.1_Silent_p.C1493C|PTPRB_ENST00000550857.1_Silent_p.C1273C	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1363					angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TCTGAGGCCGGCAATGCAGGT	0.458													A	70949900	G	A	70949900	2	1	643	1	0	0	0	0	0	0	0	1	12884	1195	42	2		2	PTPRB	12	70949900	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	16153907	70949900	62901995	30	51925											
OR11H12	440153	broad.mit.edu	37	chr14	19377724	19377724	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcagatcttcctcttctCactctttactacaacatatg	11	16	2	12	0	5	1	2	0	4	1	7	1	6	1	1	0	3	0	1	0	5	7			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:19377724C>T	ENST00000550708.1	+	1	203	c.131C>T	c.(130-132)tCa>tTa	p.S44L		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	44					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTCCTCTTCTCACTCTTTACT	0.413													T	19377724	C	T	19377724	3	4	643	1	0	0	0	0	1	0	0	0	11003	838	29	2	133	2	OR11H12	14	19377724	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		19377724	87971816	31	51926											
ARID4A	5926	broad.mit.edu	37	chr14	58831983	58831983	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgttgcctctggtacctgtaGtataattgtacaagagagag	11	13	11	6	0	1	2	0	0	1	2	1	3	1	2	2	1	3	5	2	1	6	7			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:58831983G>C	ENST00000355431.3	+	20	3549	c.3176G>C	c.(3175-3177)aGt>aCt	p.S1059T	ARID4A_ENST00000348476.3_Missense_Mutation_p.S1059T|ARID4A_ENST00000431317.2_Missense_Mutation_p.S1059T|ARID4A_ENST00000395168.3_Missense_Mutation_p.S1059T	NM_002892.3	NP_002883.3	P29374	ARI4A_HUMAN	AT rich interactive domain 4A (RBP1-like)	1059					negative regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	transcriptional repressor complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(4)|endometrium(8)|kidney(2)|large_intestine(14)|lung(19)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						GGTACCTGTAGTATAATTGTA	0.378													C	58831983	G	C	58831983	3	2	643	1	0	0	0	0	1	0	0	0	922	1029	36	4	3250	4	ARID4A	14	58831983	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	39454259	58831983	48517557	32	51927											
DYNC1H1	1778	broad.mit.edu	37	chr14	102461153	102461154	+	Frame_Shift_Del	DEL	AG	AG	-																															gacaatgcagaaaccaagaaAgagtttggaccagtagttat																										TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr14:102461153_102461154delAG	ENST00000360184.4	+	13	3464_3465	c.3300_3301delAG	c.(3298-3303)aaagagfs	p.E1101fs		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	1101	Stem (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AAACCAAGAAAGAGTTTGGACC	0.436													-	102461154	AG	-	102461153	7	5	643	1	0	1	0	1	0	0	0	0	4880	69	3	0	3350	0	DYNC1H1	14	102461153	Frame_Shift_Del	DEL	AG	TCGA-P5-A5F4-01A-11D-A289-08	43629170	102461153	4888387	33	51928											
FLYWCH1	84256	broad.mit.edu	37	chr16	2983273	2983273	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cacgcgctgcacggctgccgGagccgggccatcacccaggg	6	3	15	17	5	1	0	1	0	0	0	1	1	1	1	4	4	3	3	4	4	0	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr16:2983273G>A	ENST00000399667.2	+	5	1302	c.939G>A	c.(937-939)cgG>cgA	p.R313R	FLYWCH1_ENST00000253928.9_Silent_p.R313R|FLYWCH1_ENST00000416288.2_Silent_p.R312R			Q4VC44	FWCH1_HUMAN	FLYWCH-type zinc finger 1	313						nucleus	DNA binding|metal ion binding			kidney(1)|lung(3)	4						ACGGCTGCCGGAGCCGGGCCA	0.667													A	2983273	G	A	2983273	2	1	643	1	0	0	0	0	0	0	0	1	5996	1161	41	2		2	FLYWCH1	16	2983273	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		2983273	87371480	34	51929											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:7577120C>A	ENST00000420246.2	-	8	950	c.818G>T	c.(817-819)cGt>cTt	p.R273L	TP53_ENST00000455263.2_Missense_Mutation_p.R273L|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273L|TP53_ENST00000445888.2_Missense_Mutation_p.R273L|TP53_ENST00000269305.4_Missense_Mutation_p.R273L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			A	7577120	C	A	7577120	3	1	643	1	0	0	0	0	1	0	0	0	16482	536	19	4	468	4	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08		7577120	73618090	35	51930											
UBB	7314	broad.mit.edu	37	chr17	16285560	16285560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggataaagaaggcatcccTcccgaccagcagaggctcat	13	5	10	13	1	1	2	1	0	0	2	3	4	3	3	3	3	1	3	3	3	3	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:16285560T>C	ENST00000302182.3	+	2	731	c.339T>C	c.(337-339)ccT>ccC	p.P113P	RP11-138I1.4_ENST00000583934.1_RNA|UBB_ENST00000578649.1_Intron|UBB_ENST00000395839.1_Silent_p.P113P|UBB_ENST00000535788.1_Intron|UBB_ENST00000395837.1_Silent_p.P113P	NM_001281720.1|NM_018955.3	NP_001268649.1|NP_061828.1	P0CG47	UBB_HUMAN	ubiquitin B	113	Ubiquitin-like 2.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)		AAGGCATCCCTCCCGACCAGC	0.557													C	16285560	T	C	16285560	2	2	643	1	0	0	0	0	0	0	0	1	16943	1538	54	3		3	UBB	17	16285560	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	8708440	16285560	64909650	36	51931											
KRT15	3866	broad.mit.edu	37	chr17	39673186	39673186	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttgatgtcagcctcaacGccctggcgcagggccagctc	6	7	12	16	3	2	1	2	1	0	0	3	1	2	1	4	2	3	3	4	2	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:39673186G>A	ENST00000254043.3	-	3	4197	c.612C>T	c.(610-612)ggC>ggT	p.G204G	KRT15_ENST00000393981.3_Silent_p.G39G|KRT15_ENST00000393974.3_Silent_p.G39G|KRT15_ENST00000393976.2_Silent_p.G204G	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	204	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				CAGCCTCAACGCCCTGGCGCA	0.612													A	39673186	G	A	39673186	2	1	643	1	0	0	0	0	0	0	0	1	8510	1074	38	1		1	KRT15	17	39673186	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	23387626	39673186	41522024	37	51932											
TMC8	147138	broad.mit.edu	37	chr17	76134132	76134132	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgggcctggctggaaCgggaggagttcctggtcccc	4	9	17	11	1	1	0	0	0	1	0	3	3	3	3	4	7	1	3	4	7	1	2	rs149327841	by1000genomes	TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr17:76134132C>T	ENST00000318430.5	+	12	1770	c.1396C>T	c.(1396-1398)Cgg>Tgg	p.R466W	TMC8_ENST00000589691.1_Missense_Mutation_p.R243W	NM_152468.4	NP_689681.2	Q8IU68	TMC8_HUMAN	transmembrane channel-like 8	466						endoplasmic reticulum membrane|integral to membrane				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)|OV - Ovarian serous cystadenocarcinoma(97;0.192)			CTGGCTGGAACGGGAGGAGTT	0.647													T	76134132	C	T	76134132	3	4	643	1	0	0	0	0	1	0	0	0	16091	527	19	1	1438	1	TMC8	17	76134132	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	36460946	76134132	5061078	38	51933											
MIER2	54531	broad.mit.edu	37	chr19	308922	308922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcgcccactgaccgtgtgcGcacctgcggggaggggtcag	5	6	16	14	4	1	1	1	1	0	0	2	2	1	2	3	4	2	1	3	4	0	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:308922G>A	ENST00000264819.4	-	11	998	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	330	SANT.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		GACCGTGTGCGCACCTGCGGG	0.667													A	308922	G	A	308922	3	1	643	1	0	0	0	0	1	0	0	0	9656	1087	38	1	665	1	MIER2	19	308922	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		308922	58820061	39	51934											
RNF126	55658	broad.mit.edu	37	chr19	651708	651708	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaccggtgccgggacggatGgtctctctcccgccggctct	3	9	14	15	5	3	0	0	0	3	0	5	2	3	2	4	5	2	2	4	5	1	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:651708G>C	ENST00000292363.5	-	4	501	c.346C>G	c.(346-348)Cat>Gat	p.H116D		NM_194460.2	NP_919442.1	Q9BV68	RN126_HUMAN	ring finger protein 126	116							protein binding|zinc ion binding			lung(1)	1		all_epithelial(18;2.78e-22)|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)		CGGGACGGATGGTCTCTCTCC	0.721													C	651708	G	C	651708	3	2	643	1	0	0	0	0	1	0	0	0	13526	1348	47	4	613	4	RNF126	19	651708	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08	342786	651708	58477275	40	51935											
ZNF430	80264	broad.mit.edu	37	chr19	21216300	21216300	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtggccatagaattttcTctggaggagtggcaatgcct	9	12	13	7	0	1	1	0	0	1	1	2	4	1	3	2	4	1	1	2	4	3	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr19:21216300T>C	ENST00000261560.5	+	3	316	c.135T>C	c.(133-135)tcT>tcC	p.S45S	ZNF430_ENST00000599548.1_Silent_p.S45S|ZNF430_ENST00000595401.1_Silent_p.S45S	NM_001172671.1|NM_025189.3	NP_001166142.1|NP_079465.3	Q9H8G1	ZN430_HUMAN	zinc finger protein 430	45	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	23						TAGAATTTTCTCTGGAGGAGT	0.438													C	21216300	T	C	21216300	2	2	643	1	0	0	0	0	0	0	0	1	18005	1538	54	3		3	ZNF430	19	21216300	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	20564592	21216300	37912683	41	51936											
PLCB4	5332	broad.mit.edu	37	chr20	9389339	9389339	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcggtcttggctacttgAagacacatgcaattgaattt	11	13	9	8	1	1	3	0	2	1	1	2	3	1	3	0	2	2	2	0	2	4	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:9389339A>G	ENST00000378501.2	+	19	1828	c.1813A>G	c.(1813-1815)Aag>Gag	p.K605E	PLCB4_ENST00000414679.2_Missense_Mutation_p.K617E|PLCB4_ENST00000278655.4_Missense_Mutation_p.K605E|PLCB4_ENST00000378473.3_Missense_Mutation_p.K617E|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.K605E|PLCB4_ENST00000334005.3_Missense_Mutation_p.K605E	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	605	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						TGGCTACTTGAAGACACATGC	0.373													G	9389339	A	G	9389339	3	3	643	1	0	0	0	0	1	0	0	0	12107	247	9	3	1927	3	PLCB4	20	9389339	Missense_Mutation	SNP	A	TCGA-P5-A5F4-01A-11D-A289-08		9389339	53636181	42	51937											
PAX1	5075	broad.mit.edu	37	chr20	21689966	21689967	+	Frame_Shift_Ins	INS	-	-	G																															ggcggcggctacctcgccccINSgggcccgccgtggccgcctg																										TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:21689966_21689967insG	ENST00000398485.2	+	4	1220_1221	c.1166_1167insG	c.(1165-1170)ccgggcfs	p.PG389fs	PAX1_ENST00000444366.2_Frame_Shift_Ins_p.PG365fs|PAX1_ENST00000460221.1_3'UTR	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	389					regulation of transcription, DNA-dependent|skeletal system development|transcription from RNA polymerase II promoter	nucleus	DNA binding			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						TACCTCGCCCCGGGCCCGCCGT	0.748													G	21689967	-	G	21689966	7	5	643	1	0	1	1	0	0	0	0	0	11554	652	23	0	1180	0	PAX1	20	21689966	Frame_Shift_Ins	INS	-	TCGA-P5-A5F4-01A-11D-A289-08	12300627	21689966	41335554	43	51938											
IFT52	51098	broad.mit.edu	37	chr20	42264576	42264576	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaacacagggctcacgagCagctaaatgtgaaacatgaa	17	6	10	8	1	1	3	1	3	0	0	1	4	1	3	0	1	4	3	0	1	5	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:42264576C>G	ENST00000373030.3	+	11	1064	c.934C>G	c.(934-936)Cag>Gag	p.Q312E	IFT52_ENST00000373039.4_Missense_Mutation_p.Q312E	NM_016004.2	NP_057088.2	Q9Y366	IFT52_HUMAN	intraflagellar transport 52 homolog (Chlamydomonas)	312						intraflagellar transport particle B|microtubule-based flagellum	protein C-terminus binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GGCTCACGAGCAGCTAAATGT	0.488													G	42264576	C	G	42264576	3	3	643	1	0	0	0	0	1	0	0	0	7619	711	25	4	972	4	IFT52	20	42264576	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	20574610	42264576	20760944	44	51939											
SLC12A5	57468	broad.mit.edu	37	chr20	44672351	44672351	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actggcaccatcctggccatCgccaccacctctgctgtctg	6	9	8	18	1	2	0	0	0	2	0	4	0	3	0	6	2	1	2	6	2	0	0	rs10460627		TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr20:44672351C>T	ENST00000243964.3	+	10	1415	c.1317C>T	c.(1315-1317)atC>atT	p.I439I	SLC12A5_ENST00000454036.2_Silent_p.I462I	NM_020708.4	NP_065759.1	Q9H2X9	S12A5_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 5	462					potassium ion transport|sodium ion transport	integral to membrane	potassium:chloride symporter activity	p.I439I(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(1)|lung(38)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)	80		Myeloproliferative disorder(115;0.0122)			Bumetanide(DB00887)|Potassium Chloride(DB00761)	TCCTGGCCATCGCCACCACCT	0.607													T	44672351	C	T	44672351	2	4	643	1	0	0	0	0	0	0	0	1	14480	874	31	1		1	SLC12A5	20	44672351	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	2407775	44672351	18353169	45	51940											
KRTAP10-7	386675	broad.mit.edu	37	chr21	46021254	46021254	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagcccgtctgctgtGtgcccacctgctctgatgat	5	11	11	14	1	2	2	0	2	2	0	2	2	2	2	3	0	5	4	3	0	1	0			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr21:46021254G>T	ENST00000380102.2	+	1	758	c.733G>T	c.(733-735)Gtg>Ttg	p.V245L	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	245	30 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						CGTCTGCTGTGTGCCCACCTG	0.652													T	46021254	G	T	46021254	3	4	643	1	0	0	0	0	1	0	0	0	8572	1377	48	4	724	4	KRTAP10-7	21	46021254	Missense_Mutation	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		46021254	2108641	46	51941											
LARGE	9215	broad.mit.edu	37	chr22	33670458	33670458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatttcagggcagcaaagccGtagcggcgggacatgtcctg	9	8	14	10	3	1	0	1	0	0	0	2	1	2	1	2	3	3	3	2	3	3	3			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:33670458G>A	ENST00000354992.2	-	16	2797	c.2226C>T	c.(2224-2226)taC>taT	p.Y742Y	LARGE_ENST00000452586.2_Silent_p.Y541Y|LARGE_ENST00000337431.2_Silent_p.Y690Y|LARGE_ENST00000402320.1_Silent_p.Y690Y|LARGE_ENST00000397394.2_Silent_p.Y742Y|LARGE_ENST00000437602.2_Silent_p.Y693Y	NM_004737.4	NP_004728.1	O95461	LARGE_HUMAN	like-glycosyltransferase	742					glycosphingolipid biosynthetic process|muscle cell homeostasis|N-acetylglucosamine metabolic process|protein glycosylation	integral to Golgi membrane	acetylglucosaminyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(23)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Lung NSC(1;0.219)				CAGCAAAGCCGTAGCGGCGGG	0.542											OREG0026497	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	33670458	G	A	33670458	2	1	643	1	0	0	0	0	0	0	0	1	8686	1140	40	1		1	LARGE	22	33670458	Silent	SNP	G	TCGA-P5-A5F4-01A-11D-A289-08		33670458	17634108	47	51942											
PRR5	55615	broad.mit.edu	37	chr22	45132730	45132730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctccaagagctacaacaCgcctctgctgaaccccgtgc	9	6	9	17	3	1	2	0	1	1	1	2	2	2	2	4	0	6	3	4	0	4	1			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chr22:45132730C>T	ENST00000403581.1	+	10	1448	c.839C>T	c.(838-840)aCg>aTg	p.T280M	ARHGAP8_ENST00000517296.3_Intron|PRR5_ENST00000006251.7_Missense_Mutation_p.T248M|PRR5-ARHGAP8_ENST00000361473.5_Intron|PRR5_ENST00000477331.1_3'UTR|ARHGAP8_ENST00000389773.5_Intron|PRR5-ARHGAP8_ENST00000352766.7_Intron|PRR5_ENST00000336985.6_Missense_Mutation_p.T257M	NM_001198721.1	NP_001185650.1			proline rich 5 (renal)											central_nervous_system(1)|endometrium(2)|lung(6)|prostate(1)|skin(1)	11		all_neural(38;0.00409)|Ovarian(80;0.024)|Glioma(61;0.0647)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)		AGCTACAACACGCCTCTGCTG	0.692													T	45132730	C	T	45132730	3	4	643	1	0	0	0	0	1	0	0	0	12685	536	19	1	800	1	PRR5	22	45132730	Missense_Mutation	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	11462272	45132730	6171836	48	51943											
DHRSX	207063	broad.mit.edu	37	chrX	2161263	2161263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtaggctgcgtggggtgagTagcaggcactgtggggcaag	7	7	20	7	2	0	1	0	1	0	0	0	1	0	1	0	6	2	6	0	6	3	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:2161263T>C	ENST00000334651.5	-	6	657	c.605A>G	c.(604-606)tAc>tGc	p.Y202C		NM_145177.2	NP_660160.2	Q8N5I4	DHRSX_HUMAN	dehydrogenase/reductase (SDR family) X-linked	202							binding|oxidoreductase activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)	16		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)				GTGGGGTGAGTAGCAGGCACT	0.642													C	2161263	T	C	2161263	3	2	643	1	0	0	0	0	1	0	0	0	4538	1638	57	3	395	3	DHRSX	23	2161263	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08		2161263	153109297	49	51944											
CYLC1	1538	broad.mit.edu	37	chrX	83116196	83116196	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacaggcaggggaaatgtcTcttccaaggttgtaagtcct	10	11	12	8	0	1	0	0	0	1	0	4	1	3	1	2	4	1	4	2	4	4	4			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:83116196T>C	ENST00000329312.4	+	1	43	c.6T>C	c.(4-6)tcT>tcC	p.S2S		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	2					cell differentiation|multicellular organismal development|spermatogenesis	acrosomal matrix|cytoskeletal calyx	structural molecule activity			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						GGGAAATGTCTCTTCCAAGGT	0.313													C	83116196	T	C	83116196	2	2	643	1	0	0	0	0	0	0	0	1	4174	1538	54	3		3	CYLC1	23	83116196	Silent	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	80954933	83116196	72154364	50	51945											
BTK	695	broad.mit.edu	37	chrX	100615678	100615678	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcataaagggccacaacCtttttcagctcacttgtgga	12	12	7	10	0	3	0	3	0	0	0	3	1	3	1	2	2	2	1	2	2	4	5			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:100615678C>T	ENST00000308731.7	-	8	817	c.654G>A	c.(652-654)aaG>aaA	p.K218K	BTK_ENST00000372880.1_Silent_p.K218K	NM_000061.2	NP_000052.1	Q06187	BTK_HUMAN	Bruton agammaglobulinemia tyrosine kinase	218	SH3.				calcium-mediated signaling|induction of apoptosis by extracellular signals|mesoderm development	cytosol|membrane raft|nucleus|plasma membrane	ATP binding|identical protein binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol-3,4,5-trisphosphate binding			breast(4)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(25)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						GGGCCACAACCTTTTTCAGCT	0.448									Agammaglobulinemia, X-linked				T	100615678	C	T	100615678	2	4	643	1	0	0	0	0	0	0	0	1	1567	680	24	2		2	BTK	23	100615678	Silent	SNP	C	TCGA-P5-A5F4-01A-11D-A289-08	17499482	100615678	54654882	51	51946											
MUM1L1	139221	broad.mit.edu	37	chrX	105449981	105449981	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagtgaagtggaaacaaagTcattacaaaactctagctgg	17	8	9	7	0	2	1	1	1	1	0	2	2	2	2	0	2	4	1	0	2	8	2			TCGA-P5-A5F4-01A-11D-A289-08	TCGA-P5-A5F4-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58cdd54d-f0d7-4f7a-8467-d83fec67b803	d867db6f-d0aa-468c-8f1e-6397da80ea18	g.chrX:105449981T>C	ENST00000337685.2	+	5	1341	c.556T>C	c.(556-558)Tca>Cca	p.S186P	MUM1L1_ENST00000372552.1_Missense_Mutation_p.S186P|MUM1L1_ENST00000357175.2_Missense_Mutation_p.S186P	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	186										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						GGAAACAAAGTCATTACAAAA	0.383													C	105449981	T	C	105449981	3	2	643	1	0	0	0	0	1	0	0	0	10062	1667	58	3	558	3	MUM1L1	23	105449981	Missense_Mutation	SNP	T	TCGA-P5-A5F4-01A-11D-A289-08	4834303	105449981	49820579	52	51947											
CATSPER4	378807	broad.mit.edu	37	chr1	26524778	26524778	+	Splice_Site	DEL	T	T	-																															gctcttttctctctgacaggTtttttccgtgtttggagtaa																										TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr1:26524778delT	ENST00000456354.2	+	6	747	c.680delT	c.(679-681)gtt>gt	p.V227fs		NM_198137.1	NP_937770.1	Q7RTX7	CTSR4_HUMAN	cation channel, sperm associated 4	227					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)	27		all_cancers(24;2.05e-18)|Colorectal(325;0.000147)|Renal(390;0.00211)|all_lung(284;0.00218)|Lung NSC(340;0.00239)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0687)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;3.52e-26)|Colorectal(126;1.34e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000755)|BRCA - Breast invasive adenocarcinoma(304;0.000995)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00878)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTGACAGGTTTTTTCCGTG	0.488													-	26524778	T	-	26524778	8	5	644	1	0	1	0	1	0	0	1	0	2716	1739	60	0	702	0	CATSPER4	1	26524778	Splice_Site	DEL	T	TCGA-P5-A5F6-01A-11D-A289-08		26524778	222725843	1	51948											
HTRA2	27429	broad.mit.edu	37	chr2	74757185	74757186	+	Frame_Shift_Ins	INS	-	-	G																															ctggagccttcgggcatggcINSgggctttggggggcattcgc																										TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr2:74757185_74757186insG	ENST00000258080.3	+	1	682_683	c.52_53insG	c.(52-54)cggfs	p.R18fs	HTRA2_ENST00000467961.1_Intron|HTRA2_ENST00000352222.3_Frame_Shift_Ins_p.R18fs	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	18					apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						TCGGGCATGGCGGGCTTTGGGG	0.718													G	74757186	-	G	74757185	7	5	644	1	0	1	1	0	0	0	0	0	7512	759	27	0	54	0	HTRA2	2	74757185	Frame_Shift_Ins	INS	-	TCGA-P5-A5F6-01A-11D-A289-08		74757185	168442188	2	51949											
PCLO	27445	broad.mit.edu	37	chr7	82543925	82543925	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aaaagtaggatacatctctgGagaagggaaattaaacatgc	18	8	10	5	0	1	1	0	0	1	1	2	4	1	3	0	3	3	1	0	3	8	3			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr7:82543925G>C	ENST00000437081.1	-	2	3537	c.3537C>G	c.(3535-3537)ctC>ctG	p.L1179L	PCLO_ENST00000423517.2_Intron|PCLO_ENST00000333891.9_Intron			Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein	0					cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TACATCTCTGGAGAAGGGAAA	0.343													C	82543925	G	C	82543925	2	2	644	1	0	0	0	0	0	0	0	1	11659	1189	41	4		4	PCLO	7	82543925	Silent	SNP	G	TCGA-P5-A5F6-01A-11D-A289-08		82543925	76594738	3	51950											
KRIT1	889	broad.mit.edu	37	chr7	91865759	91865759	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaacatccttgctgtaagTgtagcaaaatgagtactgga	14	12	9	6	0	0	1	0	1	0	0	1	2	1	2	1	1	4	5	1	1	6	5			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr7:91865759T>C	ENST00000394507.1	-	8	1236	c.453A>G	c.(451-453)acA>acG	p.T151T	KRIT1_ENST00000394505.2_Silent_p.T151T|KRIT1_ENST00000340022.2_Silent_p.T151T|KRIT1_ENST00000412043.2_Silent_p.T151T|KRIT1_ENST00000394503.2_Silent_p.T151T	NM_194456.1	NP_919438.1	O00522	KRIT1_HUMAN	KRIT1, ankyrin repeat containing	151					angiogenesis|cell redox homeostasis|negative regulation of angiogenesis|negative regulation of endothelial cell apoptosis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|regulation of establishment of cell polarity|small GTPase mediated signal transduction	cell-cell junction|cytoskeleton	protein binding|small GTPase regulator activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(2)|stomach(1)	22	all_cancers(62;1.04e-09)|all_epithelial(64;5.75e-09)|Breast(17;0.00206)|all_lung(186;0.0509)|Lung NSC(181;0.0692)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TTGCTGTAAGTGTAGCAAAAT	0.323													C	91865759	T	C	91865759	2	2	644	1	0	0	0	0	0	0	0	1	8503	1683	59	3		3	KRIT1	7	91865759	Silent	SNP	T	TCGA-P5-A5F6-01A-11D-A289-08	9321834	91865759	67272904	4	51951											
ACSS1	84532	broad.mit.edu	37	chr20	24988567	24988567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacctggtttttggaagaCgtttcaccacctggcaagga	10	10	11	10	1	1	2	1	0	0	2	1	4	1	4	3	4	0	3	3	4	2	3	rs150793632		TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chr20:24988567C>T	ENST00000537502.1	-	12	3183	c.1652G>A	c.(1651-1653)cGt>cAt	p.R551H	ACSS1_ENST00000323482.4_Missense_Mutation_p.R634H|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000484396.1_5'UTR|ACSS1_ENST00000542618.1_Missense_Mutation_p.R513H			Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	634					acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TTTTGGAAGACGTTTCACCAC	0.567													T	24988567	C	T	24988567	3	4	644	1	0	0	0	0	1	0	0	0	188	536	19	1	172	1	ACSS1	20	24988567	Missense_Mutation	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		24988567	38036953	5	51952											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	1	16	18	6	0	0	1	0	1	0	0	0	1	0	1	0	4	5	8	0	4	0	2			TCGA-P5-A5F6-01A-11D-A289-08	TCGA-P5-A5F6-10A-01D-A289-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc801897-1db7-480c-8e5f-7da4002fb31f	4bdadad4-7eca-457d-bd33-1183d7950589	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371962.1_Silent_p.Q162Q|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000524145.1_Silent_p.Q394Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													T	112058796	C	T	112058796	2	4	644	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-P5-A5F6-01A-11D-A289-08		112058796	43211764	6	51953											
GABRD	2563	broad.mit.edu	37	chr1	1959653	1959653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagccaggagcacatccacGggctggacaagctgcagctg	11	4	14	12	1	0	1	0	0	0	1	1	3	1	3	2	3	5	5	2	3	1	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:1959653G>A	ENST00000378585.4	+	6	696	c.613G>A	c.(613-615)Ggg>Agg	p.G205R		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	205						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		GCACATCCACGGGCTGGACAA	0.607													A	1959653	G	A	1959653	3	1	645	1	0	0	0	0	1	0	0	0	6221	1116	39	1	635	1	GABRD	1	1959653	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		1959653	247290968	1	51954											
KLHDC8A	55220	broad.mit.edu	37	chr1	205308370	205308370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcaggaacttgggctgccGgtagaggcgaccttgccgca	7	6	15	13	4	0	1	0	0	0	1	0	3	0	2	4	4	3	4	4	4	2	3	rs140745821		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr1:205308370G>A	ENST00000367156.3	-	7	1525	c.709C>T	c.(709-711)Cgg>Tgg	p.R237W	KLHDC8A_ENST00000367155.3_Missense_Mutation_p.R237W|KLHDC8A_ENST00000539253.1_Missense_Mutation_p.R237W|KLHDC8A_ENST00000537168.1_Missense_Mutation_p.R124W|KLHDC8A_ENST00000460687.1_Missense_Mutation_p.R103W	NM_001271863.1	NP_001258792.1	Q8IYD2	KLD8A_HUMAN	kelch domain containing 8A	237										breast(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Breast(84;0.23)		BRCA - Breast invasive adenocarcinoma(75;0.117)			TTGGGCTGCCGGTAGAGGCGA	0.597													A	205308370	G	A	205308370	3	1	645	1	0	0	0	0	1	0	0	0	8420	1115	39	1	355	1	KLHDC8A	1	205308370	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	203348717	205308370	43942251	2	51955											
PROKR1	10887	broad.mit.edu	37	chr2	68882314	68882314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagctctggttcaaggCggtccctggattccagacag	7	8	14	12	2	2	1	1	0	1	1	4	3	4	3	3	5	1	2	3	5	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:68882314C>T	ENST00000303786.3	+	3	1208	c.788C>T	c.(787-789)gCg>gTg	p.A263V	PROKR1_ENST00000394342.2_Missense_Mutation_p.A263V			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	263						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TGGTTCAAGGCGGTCCCTGGA	0.582													T	68882314	C	T	68882314	3	4	645	1	0	0	0	0	1	0	0	0	12638	768	27	1	794	1	PROKR1	2	68882314	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		68882314	174317059	3	51956											
RANBP2	5903	broad.mit.edu	37	chr2	109384118	109384118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttcgtatagtgatgagaaggGaccaagtattaaaactttgt	14	13	10	4	1	0	2	0	2	0	1	1	4	0	3	1	1	1	2	1	1	7	6			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:109384118G>A	ENST00000283195.6	+	20	7249	c.7123G>A	c.(7123-7125)Gac>Aac	p.D2375N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2375	RanBD1 3.				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GATGAGAAGGGACCAAGTATT	0.353													A	109384118	G	A	109384118	3	1	645	1	0	0	0	0	1	0	0	0	13116	1174	41	2	7201	2	RANBP2	2	109384118	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	40501804	109384118	133815255	4	51957											
LRP2	4036	broad.mit.edu	37	chr2	170038125	170038125	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccagtctgcccagtagagGtacctgtcagggcaaacaca	11	6	10	14	0	2	1	1	0	1	1	2	1	2	1	4	2	3	3	4	2	3	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:170038125G>T	ENST00000263816.3	-	52	10287	c.10002C>A	c.(10000-10002)taC>taA	p.Y3334*	LRP2_ENST00000461418.1_5'UTR	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3334					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CCCAGTAGAGGTACCTGTCAG	0.483													T	170038125	G	T	170038125	4	4	645	1	0	0	0	0	0	1	0	0	9026	1256	44	4	4077	4	LRP2	2	170038125	Nonsense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	60654007	170038125	73161248	5	51958											
ATF2	1386	broad.mit.edu	37	chr2	175979598	175979598	+	Splice_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtgccaatggtacttccTatttaacaatgagataaaaa	15	14	6	6	0	0	1	0	1	0	1	1	2	1	1	2	1	3	1	2	1	8	7			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:175979598T>A	ENST00000264110.2	-	8	746		c.e8-2		ATF2_ENST00000426833.3_Splice_Site|ATF2_ENST00000538946.1_Splice_Site|ATF2_ENST00000409499.1_Intron|ATF2_ENST00000487334.2_Splice_Site|ATF2_ENST00000345739.5_Splice_Site|ATF2_ENST00000392544.1_Splice_Site|ATF2_ENST00000409635.1_Splice_Site|ATF2_ENST00000409833.1_Splice_Site|ATF2_ENST00000392543.2_Intron|ATF2_ENST00000409437.1_Intron	NM_001256090.1|NM_001256091.1|NM_001880.3	NP_001243019.1|NP_001243020.1|NP_001871.2	P15336	ATF2_HUMAN	activating transcription factor 2						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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	nucleoplasm	protein dimerization activity|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	17			OV - Ovarian serous cystadenocarcinoma(117;0.125)			TGGTACTTCCTATTTAACAAT	0.373													A	175979598	T	A	175979598	5	1	645	1	0	0	0	0	0	0	1	0	1085	1536	53	5	1099	5	ATF2	2	175979598	Splice_Site	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	5941473	175979598	67219775	6	51959											
SP140	11262	broad.mit.edu	37	chr2	231150512	231150512	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctccagtgaaaagaaggCgaacgtgaatctgaaagacc	15	6	12	8	2	2	5	0	3	2	2	3	6	2	5	2	2	1	0	2	2	6	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr2:231150512C>T	ENST00000392045.3	+	17	1724	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	SP140_ENST00000343805.6_Missense_Mutation_p.A477V|SP140_ENST00000350136.5_Missense_Mutation_p.A406V|SP140_ENST00000420434.3_Missense_Mutation_p.A510V|SP140_ENST00000486687.2_Missense_Mutation_p.A461V|SP140_ENST00000417495.3_Missense_Mutation_p.A423V	NM_007237.4	NP_009168.4	Q13342	LY10_HUMAN	SP140 nuclear body protein	537					defense response	cytoplasm|nuclear envelope|nucleolus|nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)	12		Renal(207;0.0112)|all_lung(227;0.0221)|Lung NSC(271;0.0977)|all_hematologic(139;0.103)|Acute lymphoblastic leukemia(138;0.167)		Epithelial(121;1.13e-12)|all cancers(144;2.71e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)		GAAAAGAAGGCGAACGTGAAT	0.448													T	231150512	C	T	231150512	3	4	645	1	0	0	0	0	1	0	0	0	15056	768	27	1	1793	1	SP140	2	231150512	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	55170914	231150512	12048861	7	51960											
THRB	7068	broad.mit.edu	37	chr3	24193966	24193966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agagctcgtccttgtctaagTaactggggatgtaccctgtg	8	12	12	9	1	1	1	0	0	1	1	3	2	2	2	2	2	3	3	2	2	3	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:24193966T>C	ENST00000396671.2	-	6	647	c.299A>G	c.(298-300)tAc>tGc	p.Y100C	THRB_ENST00000416420.1_Missense_Mutation_p.Y100C|THRB_ENST00000356447.4_Missense_Mutation_p.Y100C|THRB_ENST00000280696.5_Missense_Mutation_p.Y115C	NM_001128176.2	NP_001121648.1	P10828	THB_HUMAN	thyroid hormone receptor, beta	100	Modulating.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	enzyme binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|thyroid hormone receptor activity|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(6)|pancreas(2)|prostate(1)|skin(3)	19					Levothyroxine(DB00451)|Liothyronine(DB00279)	CTTGTCTAAGTAACTGGGGAT	0.443													C	24193966	T	C	24193966	3	2	645	1	0	0	0	0	1	0	0	0	15975	1638	57	3	1110	3	THRB	3	24193966	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08		24193966	173828464	8	51961											
PLCXD2	257068	broad.mit.edu	37	chr3	111394231	111394231	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cccctcacctccacaacctcCccctttccaatctggcaatc	8	9	2	22	0	2	0	1	0	1	0	6	0	5	0	8	1	1	1	8	1	3	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:111394231C>T	ENST00000393934.3	+	1	709	c.139C>T	c.(139-141)Ccc>Tcc	p.P47S	PLCXD2_ENST00000477665.1_Missense_Mutation_p.P47S	NM_153268.3	NP_695000.1	Q0VAA5	PLCX2_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 2	47	PI-PLC X-box.				intracellular signal transduction|lipid catabolic process		phospholipase C activity|signal transducer activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)	17						CCACAACCTCCCCCTTTCCAA	0.537													T	111394231	C	T	111394231	3	4	645	1	0	0	0	0	1	0	0	0	12119	623	22	2	141	2	PLCXD2	3	111394231	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	87200265	111394231	86628199	9	51962											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr3:178952085A>T	ENST00000263967.3	+	21	3297	c.3140A>T	c.(3139-3141)cAt>cTt	p.H1047L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178952085	A	T	178952085	3	4	645	1	0	0	0	0	1	0	0	0	11990	217	8	5	3218	5	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-P5-A72U-01A-31D-A32B-08	67557854	178952085	19070345	10	51963											
SH3TC1	54436	broad.mit.edu	37	chr4	8229065	8229065	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgcctggcacaggcccggggGgcggccaagaaagctggcct	7	3	17	14	3	0	1	0	0	0	1	0	1	0	1	4	7	1	2	4	7	2	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:8229065G>A	ENST00000539824.1	+	12	1790	c.1416G>A	c.(1414-1416)ggG>ggA	p.G472G	SH3TC1_ENST00000245105.3_Silent_p.G548G|SH3TC1_ENST00000514274.1_3'UTR			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	548							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						AGGCCCGGGGGGCGGCCAAGA	0.697													A	8229065	G	A	8229065	2	1	645	1	0	0	0	0	0	0	0	1	14355	1219	43	2		2	SH3TC1	4	8229065	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		8229065	182925211	11	51964											
DKK2	27123	broad.mit.edu	37	chr4	107845811	107845811	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgagtaccatccagagcCgggatgtgaggggttaagat	10	8	15	8	2	0	3	0	1	0	2	1	5	1	4	4	3	3	2	4	3	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:107845811C>T	ENST00000285311.3	-	3	1125	c.420G>A	c.(418-420)ccG>ccA	p.P140P	DKK2_ENST00000513208.1_Silent_p.P40P|DKK2_ENST00000510463.1_Silent_p.P94P	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	140					multicellular organismal development|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	extracellular space				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		CATCCAGAGCCGGGATGTGAG	0.438													T	107845811	C	T	107845811	2	4	645	1	0	0	0	0	0	0	0	1	4584	639	23	1		1	DKK2	4	107845811	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	99616746	107845811	83308465	12	51965											
NPY5R	4889	broad.mit.edu	37	chr4	164272199	164272199	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagatgatcaacttaacTcttcatccatccaaaaagag	17	10	5	9	0	3	3	2	2	1	2	5	4	5	3	2	0	2	0	2	0	5	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr4:164272199T>A	ENST00000515560.1	+	4	2296	c.774T>A	c.(772-774)acT>acA	p.T258T	NPY5R_ENST00000506953.1_Silent_p.T258T|NPY5R_ENST00000338566.3_Silent_p.T258T			Q15761	NPY5R_HUMAN	neuropeptide Y receptor Y5	258					cardiac left ventricle morphogenesis|outflow tract morphogenesis	integral to plasma membrane				NS(2)|biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(4)|lung(26)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_hematologic(180;0.166)	Prostate(90;0.109)				TCAACTTAACTCTTCATCCAT	0.373													A	164272199	T	A	164272199	2	1	645	1	0	0	0	0	0	0	0	1	10686	1538	54	5		5	NPY5R	4	164272199	Silent	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	56426388	164272199	26882077	13	51966											
ADCY2	108	broad.mit.edu	37	chr5	7520913	7520913	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttcaacatgcgagaCgccatcattgccagcgtcct	8	9	8	16	3	2	1	2	0	0	1	3	2	3	1	4	0	5	0	4	0	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:7520913C>T	ENST00000338316.4	+	3	560	c.471C>T	c.(469-471)gaC>gaT	p.D157D		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	157					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	p.D157D(1)		NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						ACATGCGAGACGCCATCATTG	0.547													T	7520913	C	T	7520913	2	4	645	1	0	0	0	0	0	0	0	1	294	535	19	1		1	ADCY2	5	7520913	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		7520913	173394347	14	51967											
CDH18	1016	broad.mit.edu	37	chr5	19747223	19747223	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtgggtcttctgctctctGtctaggctttttgttgagtg	3	19	12	7	0	4	1	0	1	4	0	5	1	4	1	0	2	1	3	0	2	2	6			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:19747223G>T	ENST00000507958.1	-	6	1341	c.351C>A	c.(349-351)gaC>gaA	p.D117E	CDH18_ENST00000506372.1_Missense_Mutation_p.D117E|CDH18_ENST00000382275.1_Missense_Mutation_p.D117E|CDH18_ENST00000274170.4_Missense_Mutation_p.D117E|CDH18_ENST00000502796.1_Missense_Mutation_p.D117E|CDH18_ENST00000511273.1_Missense_Mutation_p.D117E			Q13634	CAD18_HUMAN	cadherin 18, type 2	117	Cadherin 1.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.D117E(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					TCTGCTCTCTGTCTAGGCTTT	0.443													T	19747223	G	T	19747223	3	4	645	1	0	0	0	0	1	0	0	0	3133	1368	48	4	2061	4	CDH18	5	19747223	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	12226310	19747223	161168037	15	51968											
TMEM171	134285	broad.mit.edu	37	chr5	72419284	72419284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcttctgcttctttgtcttCggcgccgtcttgttgtgtgt	1	20	10	10	3	5	0	0	0	5	0	6	0	5	0	1	1	1	2	1	1	0	6			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:72419284C>T	ENST00000454765.2	+	2	557	c.84C>T	c.(82-84)ttC>ttT	p.F28F	TMEM171_ENST00000287773.5_Silent_p.F28F			Q8WVE6	TM171_HUMAN	transmembrane protein 171	28						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		TCTTTGTCTTCGGCGCCGTCT	0.577													T	72419284	C	T	72419284	2	4	645	1	0	0	0	0	0	0	0	1	16188	883	31	1		1	TMEM171	5	72419284	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	52672061	72419284	108495976	16	51969											
F2R	2149	broad.mit.edu	37	chr5	76028196	76028196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttcttctcaggaaccccaAtgataaatatgaaccatttt	14	14	4	9	0	2	2	1	2	2	0	3	3	2	3	3	1	2	0	3	1	6	6			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:76028196A>G	ENST00000319211.4	+	2	411	c.146A>G	c.(145-147)aAt>aGt	p.N49S		NM_001992.3	NP_001983.2	P25116	PAR1_HUMAN	coagulation factor II (thrombin) receptor	49					activation of caspase activity|anatomical structure morphogenesis|connective tissue replacement involved in inflammatory response wound healing|negative regulation of cell proliferation|platelet activation|positive regulation of blood coagulation|positive regulation of cell migration|positive regulation of collagen biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JAK-STAT cascade|positive regulation of MAPKKK cascade|positive regulation of release of sequestered calcium ion into cytosol|positive regulation of transcription, DNA-dependent|STAT protein import into nucleus|tyrosine phosphorylation of STAT protein	caveola|extracellular region|Golgi apparatus|integral to plasma membrane|platelet dense tubular network	receptor binding|thrombin receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|lung(7)|ovary(3)	16		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Prostate(461;0.00955)|Ovarian(174;0.0129)		all cancers(79;4.43e-43)	Streptokinase(DB00086)	AGGAACCCCAATGATAAATAT	0.328													G	76028196	A	G	76028196	3	3	645	1	0	0	0	0	1	0	0	0	5385	101	4	3	152	3	F2R	5	76028196	Missense_Mutation	SNP	A	TCGA-P5-A72U-01A-31D-A32B-08	3608912	76028196	104887064	17	51970											
PCDHGA3	56112	broad.mit.edu	37	chr5	140725053	140725053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccagatagcaacaacaacGcccgcatcacttatgcattg	14	7	6	14	2	1	1	1	0	0	1	1	1	1	1	2	0	5	3	2	0	5	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:140725053G>A	ENST00000253812.6	+	1	1453	c.1453G>A	c.(1453-1455)Gcc>Acc	p.A485T	PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACAACAACGCCCGCATCAC	0.552													A	140725053	G	A	140725053	3	1	645	1	0	0	0	0	1	0	0	0	11631	1087	38	1	1455	1	PCDHGA3	5	140725053	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	64696857	140725053	40190207	18	51971											
ABLIM3	22885	broad.mit.edu	37	chr5	148632366	148632366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactacaagaggaagaaaccGactgcccaaggatgtagaca	17	4	11	9	1	0	3	0	0	0	3	0	7	0	5	2	2	3	1	2	2	6	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:148632366G>A	ENST00000506113.1	+	22	2386	c.1904G>A	c.(1903-1905)cGa>cAa	p.R635Q	ABLIM3_ENST00000517451.1_Missense_Mutation_p.R121Q|ABLIM3_ENST00000504238.1_Missense_Mutation_p.R524Q|ABLIM3_ENST00000309868.7_Missense_Mutation_p.R635Q|RP11-331K21.1_ENST00000522685.1_RNA|AC012613.2_ENST00000523176.1_RNA|ABLIM3_ENST00000326685.7_Missense_Mutation_p.R540Q|ABLIM3_ENST00000356541.3_Missense_Mutation_p.R524Q|ABLIM3_ENST00000508983.1_Missense_Mutation_p.R602Q|RP11-331K21.1_ENST00000512647.2_RNA			O94929	ABLM3_HUMAN	actin binding LIM protein family, member 3	635	HP.				axon guidance|cytoskeleton organization	cytoplasm	actin binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGAAACCGACTGCCCAAG	0.488													A	148632366	G	A	148632366	3	1	645	1	0	0	0	0	1	0	0	0	96	1058	37	1	1990	1	ABLIM3	5	148632366	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	7907313	148632366	32282894	19	51972											
BTNL8	79908	broad.mit.edu	37	chr5	180376261	180376261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagagacgcccggaaacaCgcaggtaccaacgcctgaga	13	4	12	12	4	0	3	0	2	0	2	0	6	0	4	3	2	3	2	3	2	3	2	rs145611296		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr5:180376261C>T	ENST00000231229.4	+	7	1222	c.988C>T	c.(988-990)Cgc>Tgc	p.R330C	BTNL8_ENST00000508408.1_Missense_Mutation_p.R323C|BTNL8_ENST00000400707.3_Silent_p.H161H|BTNL8_ENST00000340184.4_Silent_p.H286H|BTNL8_ENST00000533815.2_Silent_p.H102H|BTNL8_ENST00000511704.1_Silent_p.H170H|BTNL8_ENST00000505126.1_Silent_p.H79H	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	481	B30.2/SPRY.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCCGGAAACACGCAGGTACCA	0.557													T	180376261	C	T	180376261	3	4	645	1	0	0	0	0	1	0	0	0	1577	536	19	1	1040	1	BTNL8	5	180376261	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	31743895	180376261	538999	20	51973											
ITPR3	3710	broad.mit.edu	37	chr6	33643522	33643522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggccgcatgttcctgcgCgtgctcatccacctcaccat	5	9	10	17	4	2	0	2	0	0	0	4	0	4	0	5	2	2	3	5	2	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:33643522C>T	ENST00000374316.5	+	26	4231	c.3171C>T	c.(3169-3171)cgC>cgT	p.R1057R	ITPR3_ENST00000605930.1_Silent_p.R1057R			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1057					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						TGTTCCTGCGCGTGCTCATCC	0.642													T	33643522	C	T	33643522	2	4	645	1	0	0	0	0	0	0	0	1	7980	755	27	1		1	ITPR3	6	33643522	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		33643522	137471545	21	51974											
TFAP2B	7021	broad.mit.edu	37	chr6	50791273	50791273	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctaccagccgctccccTaccaccagagccaggacccc	8	3	6	24	1	0	1	0	0	0	1	1	2	1	2	11	1	4	1	11	1	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr6:50791273T>G	ENST00000263046.4	+	3	428	c.262T>G	c.(262-264)Tac>Gac	p.Y88D	TFAP2B_ENST00000393655.3_Missense_Mutation_p.Y79D|TFAP2B_ENST00000489228.1_3'UTR			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	79	Gln/Pro-rich (transactivation domain).				nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					GCCGCTCCCCTACCACCAGAG	0.687													G	50791273	T	G	50791273	3	3	645	1	0	0	0	0	1	0	0	0	15888	1522	53	5	241	5	TFAP2B	6	50791273	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	17147751	50791273	120323794	22	51975											
KDELR2	11014	broad.mit.edu	37	chr7	6505884	6505884	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtctcggcctccccaGtcttgctgatcataaatagc	8	12	9	12	1	3	2	1	2	2	0	5	2	4	2	3	2	2	1	3	2	3	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:6505884G>A	ENST00000258739.4	-	4	606	c.422C>T	c.(421-423)aCt>aTt	p.T141I	KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	141					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		GGCCTCCCCAGTCTTGCTGAT	0.527													A	6505884	G	A	6505884	3	1	645	1	0	0	0	0	1	0	0	0	8178	1029	36	2	399	2	KDELR2	7	6505884	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		6505884	152632779	23	51976											
PCLO	27445	broad.mit.edu	37	chr7	82581401	82581401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagagtagttgcaggctgCtgtgctgtgcagctccttcc	6	11	14	10	0	0	1	0	0	0	1	2	2	2	2	2	2	5	8	2	2	2	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:82581401C>T	ENST00000333891.9	-	5	9205	c.8868G>A	c.(8866-8868)caG>caA	p.Q2956Q	PCLO_ENST00000423517.2_Silent_p.Q2956Q	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGCAGGCTGCTGTGCTGTGC	0.448													T	82581401	C	T	82581401	2	4	645	1	0	0	0	0	0	0	0	1	11659	796	28	2		2	PCLO	7	82581401	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	76075517	82581401	76557262	24	51977											
PDIA4	9601	broad.mit.edu	37	chr7	148718147	148718147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggaccaagactccattttCttccttaacttccaagtcgt	10	14	5	12	1	1	1	0	0	1	1	5	2	4	2	4	1	1	0	4	1	4	6			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr7:148718147C>T	ENST00000286091.4	-	2	413	c.181G>A	c.(181-183)Gaa>Aaa	p.E61K		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	61	Thioredoxin 1.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			ACTCCATTTTCTTCCTTAACT	0.438													T	148718147	C	T	148718147	3	4	645	1	0	0	0	0	1	0	0	0	11746	922	32	2	1792	2	PDIA4	7	148718147	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	66136746	148718147	10420516	25	51978											
SNX31	169166	broad.mit.edu	37	chr8	101620772	101620772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagtccatcagcacggagtCgagggatggagccatatacc	11	6	13	11	2	1	0	1	0	0	0	3	4	2	3	3	3	3	2	3	3	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:101620772C>T	ENST00000311812.2	-	8	781	c.631G>A	c.(631-633)Gac>Aac	p.D211N	SNX31_ENST00000428383.2_Missense_Mutation_p.D112N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	211					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			AGCACGGAGTCGAGGGATGGA	0.532													T	101620772	C	T	101620772	3	4	645	1	0	0	0	0	1	0	0	0	14995	884	31	1	719	1	SNX31	8	101620772	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		101620772	44743250	26	51979											
SNTB1	6641	broad.mit.edu	37	chr8	121706138	121706138	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatagggcgtggcttctcgCatgtacttcactgcaaggaa	10	10	11	10	2	2	0	1	0	1	0	3	1	2	1	0	3	2	4	0	3	4	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr8:121706138C>T	ENST00000395601.3	-	3	996	c.582G>A	c.(580-582)atG>atA	p.M194I	SNTB1_ENST00000517992.1_Missense_Mutation_p.M194I|SNTB1_ENST00000519177.1_5'UTR	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	194	PDZ.|PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			TGGCTTCTCGCATGTACTTCA	0.488													T	121706138	C	T	121706138	3	4	645	1	0	0	0	0	1	0	0	0	14966	710	25	2	1058	2	SNTB1	8	121706138	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	20085366	121706138	24657884	27	51980											
NANS	54187	broad.mit.edu	37	chr9	100843119	100843119	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatcagaagctctttcctGacattcccatagggtattct	11	14	6	10	0	3	2	1	1	2	1	5	2	5	2	2	1	1	2	2	1	5	6			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:100843119G>T	ENST00000210444.5	+	5	695	c.625G>T	c.(625-627)Gac>Tac	p.D209Y	NANS_ENST00000461452.1_3'UTR|TRIM14_ENST00000375098.3_Intron	NM_018946.3	NP_061819.2	Q9NR45	SIAS_HUMAN	N-acetylneuraminic acid synthase	209					lipopolysaccharide biosynthetic process	cytoplasm	N-acetylneuraminate synthase activity|N-acylneuraminate cytidylyltransferase activity|N-acylneuraminate-9-phosphate synthase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	11		Acute lymphoblastic leukemia(62;0.0559)				GCTCTTTCCTGACATTCCCAT	0.428													T	100843119	G	T	100843119	3	4	645	1	0	0	0	0	1	0	0	0	10231	1290	45	4	643	4	NANS	9	100843119	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		100843119	40370312	28	51981											
FAM129B	64855	broad.mit.edu	37	chr9	130285973	130285973	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccattgttgcagtgccGgatgcagtcctgcagcacag	8	9	11	13	1	1	0	1	0	0	0	2	1	2	1	3	1	5	5	3	1	0	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:130285973G>A	ENST00000373312.3	-	5	787	c.574C>T	c.(574-576)Cgg>Tgg	p.R192W	FAM129B_ENST00000373314.3_Missense_Mutation_p.R179W|FAM129B_ENST00000468379.1_Intron	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	192	PH.						protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						TTGCAGTGCCGGATGCAGTCC	0.587											OREG0019507	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	130285973	G	A	130285973	3	1	645	1	0	0	0	0	1	0	0	0	5482	1115	39	1	1706	1	FAM129B	9	130285973	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	29442854	130285973	10927458	29	51982											
EGFL7	51162	broad.mit.edu	37	chr9	139563048	139563048	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgggctcacggggaccctgtCtccgagtcgttcgtgcagcg	4	8	15	14	6	2	0	1	0	1	0	5	2	2	1	2	3	2	3	2	3	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr9:139563048C>T	ENST00000371699.1	+	4	1031	c.120C>T	c.(118-120)gtC>gtT	p.V40V	EGFL7_ENST00000308874.7_Silent_p.V40V|EGFL7_ENST00000406555.3_Silent_p.V40V|EGFL7_ENST00000371698.3_Silent_p.V40V|EGFL7_ENST00000492002.1_3'UTR			Q9UHF1	EGFL7_HUMAN	EGF-like-domain, multiple 7	40	EMI.				angiogenesis|vasculogenesis		calcium ion binding			kidney(2)|ovary(1)|prostate(2)|urinary_tract(1)	6	all_cancers(76;0.109)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		GGGACCCTGTCTCCGAGTCGT	0.677													T	139563048	C	T	139563048	2	4	645	1	0	0	0	0	0	0	0	1	5003	900	32	2		2	EGFL7	9	139563048	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	9277075	139563048	1650383	30	51983											
MYO3A	53904	broad.mit.edu	37	chr10	26377316	26377316	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atatctcctggaaaaatcccGagttatccaccaagctatgt	13	11	6	11	1	1	0	0	0	1	0	4	2	3	1	4	1	1	2	4	1	6	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:26377316G>A	ENST00000265944.5	+	15	1710	c.1544G>A	c.(1543-1545)cGa>cAa	p.R515Q	MYO3A_ENST00000543632.1_Missense_Mutation_p.R515Q	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	515	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GAAAAATCCCGAGTTATCCAC	0.358													A	26377316	G	A	26377316	3	1	645	1	0	0	0	0	1	0	0	0	10152	1058	37	1	1594	1	MYO3A	10	26377316	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		26377316	109157431	31	51984											
DMBT1	1755	broad.mit.edu	37	chr10	124392720	124392720	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgacagcagattattcctgCggaggcttcctatcccaacc	9	10	8	14	1	0	2	0	1	0	1	3	3	3	3	4	2	3	2	4	2	3	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124392720C>T	ENST00000368909.3	+	49	6130	c.6024C>T	c.(6022-6024)tgC>tgT	p.C2008C	DMBT1_ENST00000344338.3_Silent_p.C1998C|DMBT1_ENST00000330163.4_Silent_p.C1380C|DMBT1_ENST00000338354.3_Silent_p.C2008C|DMBT1_ENST00000368955.3_Silent_p.C1998C|DMBT1_ENST00000359586.6_Silent_p.C728C|DMBT1_ENST00000368956.2_Silent_p.C1380C	NM_007329.2	NP_015568.2	Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	2008	CUB 2.				epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				ATTATTCCTGCGGAGGCTTCC	0.478													T	124392720	C	T	124392720	2	4	645	1	0	0	0	0	0	0	0	1	4616	776	27	1		1	DMBT1	10	124392720	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	98015404	124392720	11142027	32	51985											
CUZD1	50624	broad.mit.edu	37	chr10	124594347	124594347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acttgaacaaaaagagtttgGttcaaatccacataatatgg	17	11	7	6	0	1	2	1	1	0	1	2	2	2	2	1	2	1	2	1	2	6	5			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr10:124594347G>A	ENST00000368904.1	-	9	2206	c.1257C>T	c.(1255-1257)aaC>aaT	p.N419N	CUZD1_ENST00000545804.1_Silent_p.N419N|CUZD1_ENST00000392790.1_Silent_p.N419N			Q86UP6	CUZD1_HUMAN	CUB and zona pellucida-like domains 1	419	ZP.				cell cycle|cell division|cell proliferation|substrate-dependent cell migration, cell attachment to substrate|trypsinogen activation	integral to membrane|transport vesicle membrane|zymogen granule membrane				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|stomach(1)	39		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.126)|COAD - Colon adenocarcinoma(40;0.141)		AAAGAGTTTGGTTCAAATCCA	0.393													A	124594347	G	A	124594347	2	1	645	1	0	0	0	0	0	0	0	1	4099	1252	44	2		2	CUZD1	10	124594347	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	201627	124594347	10940400	33	51986											
RIC8A	60626	broad.mit.edu	37	chr11	210610	210610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacacctggggacccttctcCggcactgtgtgatgatcgct	6	10	12	13	2	1	2	0	2	1	0	3	4	1	3	3	3	0	2	3	3	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:210610C>T	ENST00000526104.1	+	4	2110	c.766C>T	c.(766-768)Cgg>Tgg	p.R256W	RIC8A_ENST00000325207.5_Missense_Mutation_p.R256W|RIC8A_ENST00000527696.1_Missense_Mutation_p.R250W			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	256						cytoplasm|plasma membrane	guanyl-nucleotide exchange factor activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACCCTTCTCCGGCACTGTGT	0.577													T	210610	C	T	210610	3	4	645	1	0	0	0	0	1	0	0	0	13444	643	23	1	780	1	RIC8A	11	210610	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		210610	134795906	34	51987											
RRM1	6240	broad.mit.edu	37	chr11	4144500	4144500	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tctcagacggaaacaggcacCccgtatatgctctacaaaga	14	7	8	12	2	2	2	1	0	2	2	3	3	2	3	2	2	3	3	2	2	5	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:4144500C>T	ENST00000300738.5	+	12	1410	c.1206C>T	c.(1204-1206)acC>acT	p.T402T	RRM1_ENST00000534285.1_Silent_p.T180T|RRM1_ENST00000528470.1_3'UTR|RRM1_ENST00000537197.1_Silent_p.T64T|RRM1_ENST00000423050.2_Silent_p.T305T	NM_001033.3	NP_001024.1	P23921	RIR1_HUMAN	ribonucleotide reductase M1	402					deoxyribonucleotide biosynthetic process|DNA replication|nucleobase, nucleoside and nucleotide interconversion	cytosol|nucleoplasm|ribonucleoside-diphosphate reductase complex	ATP binding|ribonucleoside-diphosphate reductase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(7)|skin(2)	14		Medulloblastoma(188;0.0025)|Breast(177;0.00502)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0848)|LUSC - Lung squamous cell carcinoma(625;0.205)	Clofarabine(DB00631)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Hydroxyurea(DB01005)	AAACAGGCACCCCGTATATGC	0.463													T	4144500	C	T	4144500	2	4	645	1	0	0	0	0	0	0	0	1	13772	610	22	2		2	RRM1	11	4144500	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	3933890	4144500	130862016	35	51988											
RBMXL2	27288	broad.mit.edu	37	chr11	7111074	7111074	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagagtacacccaccgCgattacggccactccagtgt	9	6	10	16	4	0	1	0	0	0	1	1	3	1	1	5	2	2	1	5	2	2	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:7111074C>T	ENST00000306904.5	+	1	910	c.723C>T	c.(721-723)cgC>cgT	p.R241R		NM_014469.4	NP_055284.3	O75526	HNRGT_HUMAN	RNA binding motif protein, X-linked-like 2	241	Arg/Gly/Pro-rich.					nucleus|ribonucleoprotein complex	nucleotide binding|RNA binding			NS(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	15				Epithelial(150;5.14e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACACCCACCGCGATTACGGCC	0.657													T	7111074	C	T	7111074	2	4	645	1	0	0	0	0	0	0	0	1	13242	755	27	1		1	RBMXL2	11	7111074	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	2966574	7111074	127895442	36	51989											
ZDHHC13	54503	broad.mit.edu	37	chr11	19197407	19197407	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcagatttctttcagtGtggctgctttggcttggtga	4	16	13	8	0	2	2	1	1	1	1	2	2	2	2	1	4	1	4	1	4	0	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:19197407G>A	ENST00000446113.2	+	17	1890	c.1769G>A	c.(1768-1770)tGt>tAt	p.C590Y	ZDHHC13_ENST00000399351.3_Missense_Mutation_p.C460Y	NM_019028.2	NP_061901.2	Q8IUH4	ZDH13_HUMAN	zinc finger, DHHC-type containing 13	590					positive regulation of I-kappaB kinase/NF-kappaB cascade	Golgi-associated vesicle membrane|integral to membrane	magnesium ion transmembrane transporter activity|palmitoyltransferase activity|signal transducer activity|zinc ion binding			NS(1)|kidney(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						TTCTTTCAGTGTGGCTGCTTT	0.443													A	19197407	G	A	19197407	3	1	645	1	0	0	0	0	1	0	0	0	17704	1377	48	2	1835	2	ZDHHC13	11	19197407	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	12086333	19197407	115809109	37	51990											
MADD	8567	broad.mit.edu	37	chr11	47311780	47311780	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggagcagtcctatgcccaCgcgggtctgggtggcatggc	5	9	16	11	2	1	0	0	0	1	0	2	1	2	1	2	5	2	2	2	5	1	2	rs141671072		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:47311780C>T	ENST00000342922.4	+	18	3381	c.3024C>T	c.(3022-3024)caC>caT	p.H1008H	MADD_ENST00000349238.3_Silent_p.H1028H|MADD_ENST00000395336.3_Silent_p.H1028H|MADD_ENST00000395344.3_Silent_p.H965H|MADD_ENST00000402799.1_Silent_p.H965H|MADD_ENST00000406482.1_Silent_p.H965H|MADD_ENST00000402192.2_Silent_p.H1008H|MADD_ENST00000407859.3_Silent_p.H985H|MADD_ENST00000311027.5_Silent_p.H1028H	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	1028					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		CCTATGCCCACGCGGGTCTGG	0.547													T	47311780	C	T	47311780	2	4	645	1	0	0	0	0	0	0	0	1	9223	535	19	1		1	MADD	11	47311780	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	28114373	47311780	87694736	38	51991											
DTX4	23220	broad.mit.edu	37	chr11	58972233	58972233	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcgagtcagacaccGtcatctggaatgaggtccac	11	6	11	13	2	3	2	2	1	1	1	4	4	4	3	3	3	0	0	3	3	1	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:58972233G>A	ENST00000227451.3	+	9	1815	c.1711G>A	c.(1711-1713)Gtc>Atc	p.V571I	DTX4_ENST00000532982.1_Missense_Mutation_p.V465I	NM_015177.1	NP_055992.1	Q9Y2E6	DTX4_HUMAN	deltex homolog 4 (Drosophila)	571					Notch signaling pathway	cytoplasm	zinc ion binding	p.V465I(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	20		all_epithelial(135;0.125)				GTCAGACACCGTCATCTGGAA	0.532													A	58972233	G	A	58972233	3	1	645	1	0	0	0	0	1	0	0	0	4836	1145	40	1	1745	1	DTX4	11	58972233	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	11660453	58972233	76034283	39	51992											
PGR	5241	broad.mit.edu	37	chr11	100998907	100998907	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatgaaatccatcaccgTggtggccagcggggagcgcc	8	6	16	11	3	1	1	1	1	0	0	2	3	2	3	4	5	2	0	4	5	1	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr11:100998907T>C	ENST00000325455.5	-	1	2348	c.895A>G	c.(895-897)Acg>Gcg	p.T299A	PGR_ENST00000534013.1_Intron|PGR_ENST00000263463.5_Missense_Mutation_p.T299A	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	299	Modulating, Pro-Rich.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	TCCATCACCGTGGTGGCCAGC	0.662													C	100998907	T	C	100998907	3	2	645	1	0	0	0	0	1	0	0	0	11882	1696	59	3	1938	3	PGR	11	100998907	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	42026674	100998907	34007609	40	51993											
ABCC9	10060	broad.mit.edu	37	chr12	22005315	22005315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttacccagtcagcatgcGtcagatactgtaatttgtga	10	13	8	10	1	3	2	2	1	1	1	3	2	3	2	1	0	4	2	1	0	3	4	rs140872303		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:22005315G>A	ENST00000261200.4	-	21	2629	c.2630C>T	c.(2629-2631)aCg>aTg	p.T877M	ABCC9_ENST00000261201.4_Missense_Mutation_p.T877M|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.T841M	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	877	ABC transporter 1.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	GTCAGCATGCGTCAGATACTG	0.338													A	22005315	G	A	22005315	3	1	645	1	0	0	0	0	1	0	0	0	59	1145	40	1	2233	1	ABCC9	12	22005315	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		22005315	111846580	41	51994											
MED13L	23389	broad.mit.edu	37	chr12	116418604	116418605	+	Frame_Shift_Ins	INS	-	-	T																															ggctgcaggcccaaatcccgINStgagggatttaatgtggatc																										TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:116418604_116418605insT	ENST00000281928.3	-	23	5520_5521	c.5314_5315insA	c.(5314-5316)acgfs	p.T1772fs		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	1772					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CCCAAATCCCGTGAGGGATTTA	0.45													T	116418605	-	T	116418604	7	5	645	1	0	1	1	0	0	0	0	0	9506	1145	40	0	1353	0	MED13L	12	116418604	Frame_Shift_Ins	INS	-	TCGA-P5-A72U-01A-31D-A32B-08	94413289	116418604	17433291	42	51995											
TMEM132D	121256	broad.mit.edu	37	chr12	129569084	129569084	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctccaacccttgatctgaTtgagctcggtgtcggagacc	7	11	10	13	2	2	4	0	3	2	1	5	5	2	4	3	2	2	1	3	2	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr12:129569084T>C	ENST00000422113.2	-	6	1933	c.1607A>G	c.(1606-1608)aAt>aGt	p.N536S	TMEM132D_ENST00000389441.4_Missense_Mutation_p.N74S	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	536						integral to membrane				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CTTGATCTGATTGAGCTCGGT	0.592													C	129569084	T	C	129569084	3	2	645	1	0	0	0	0	1	0	0	0	16147	1493	52	3	1708	3	TMEM132D	12	129569084	Missense_Mutation	SNP	T	TCGA-P5-A72U-01A-31D-A32B-08	13150480	129569084	4282811	43	51996											
RCBTB1	55213	broad.mit.edu	37	chr13	50123697	50123697	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gggaggatcacggactgaccCcggcactggccccacatgta	9	5	13	14	2	1	1	1	1	0	0	1	4	1	4	4	5	0	2	4	5	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr13:50123697C>T	ENST00000378302.2	-	9	1202	c.942G>A	c.(940-942)cgG>cgA	p.R314R	RCBTB1_ENST00000258646.3_Silent_p.R314R|RCBTB1_ENST00000546015.1_Silent_p.R314R	NM_018191.3	NP_060661.3	Q8NDN9	RCBT1_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 1	314					cell cycle|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|urinary_tract(1)	16		Lung NSC(96;2.1e-05)|Breast(56;0.00015)|Prostate(109;0.00314)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;4.7e-09)		CGGACTGACCCCGGCACTGGC	0.617													T	50123697	C	T	50123697	2	4	645	1	0	0	0	0	0	0	0	1	13259	610	22	2		2	RCBTB1	13	50123697	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		50123697	65046181	44	51997											
FAM161B	145483	broad.mit.edu	37	chr14	74404345	74404345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatagggccttgtttgtattCgctgcttcatttcctccagt	5	17	9	10	1	1	0	1	0	0	0	4	1	3	0	3	1	1	4	3	1	2	7			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr14:74404345C>A	ENST00000286544.3	-	7	2012	c.1814G>T	c.(1813-1815)cGa>cTa	p.R605L	FAM161B_ENST00000534936.1_Missense_Mutation_p.R542L|RP5-1021I20.5_ENST00000555916.1_RNA	NM_152445.2	NP_689658.2			family with sequence similarity 161, member B											breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(2)|skin(2)	21						TGTTTGTATTCGCTGCTTCAT	0.343													A	74404345	C	A	74404345	3	1	645	1	0	0	0	0	1	0	0	0	5518	884	31	4	330	4	FAM161B	14	74404345	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		74404345	32945195	45	51998											
ITGAX	3687	broad.mit.edu	37	chr16	31388578	31388578	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtatgctgtctacactgtGgttagcaggtcagcaggtac	10	11	12	8	0	2	0	1	0	1	0	2	0	2	0	0	3	5	6	0	3	5	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:31388578G>A	ENST00000268296.4	+	23	2902	c.2781G>A	c.(2779-2781)gtG>gtA	p.V927V	ITGAX_ENST00000562522.1_Silent_p.V927V	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	927					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TCTACACTGTGGTTAGCAGGT	0.502													A	31388578	G	A	31388578	2	1	645	1	0	0	0	0	0	0	0	1	7947	1335	47	2		2	ITGAX	16	31388578	Silent	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		31388578	58966175	46	51999											
NUP93	9688	broad.mit.edu	37	chr16	56792500	56792500	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatcccacatctcccagcGattggagagtctgagtgcag	10	9	10	12	1	2	2	0	1	2	1	4	4	3	2	2	1	2	1	2	1	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:56792500G>T	ENST00000569842.1	+	3	326	c.230G>T	c.(229-231)cGa>cTa	p.R77L	NUP93_ENST00000308159.5_Missense_Mutation_p.R77L			Q8N1F7	NUP93_HUMAN	nucleoporin 93kDa	77					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|endometrium(6)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						ATCTCCCAGCGATTGGAGAGT	0.507													T	56792500	G	T	56792500	3	4	645	1	0	0	0	0	1	0	0	0	10848	1058	37	4	236	4	NUP93	16	56792500	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	25403922	56792500	33562253	47	52000											
AARS	16	broad.mit.edu	37	chr16	70287893	70287893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctttagggatttgagagtctCccgcaattcatccttctgcc	7	14	8	12	1	3	1	1	1	2	1	5	3	4	2	3	1	1	1	3	1	2	5			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr16:70287893C>T	ENST00000261772.8	-	18	2592	c.2449G>A	c.(2449-2451)Gag>Aag	p.E817K		NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	817					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	TTGAGAGTCTCCCGCAATTCA	0.557											OREG0023912	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70287893	C	T	70287893	3	4	645	1	0	0	0	0	1	0	0	0	19	864	30	2	473	2	AARS	16	70287893	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	13495393	70287893	20066860	48	52001											
SGSM2	9905	broad.mit.edu	37	chr17	2268242	2268242	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatggcatccagaggccgcCgctgcatttcccacagggag	8	6	14	13	2	0	1	0	0	0	1	2	3	2	3	4	4	1	3	4	4	0	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:2268242C>T	ENST00000268989.3	+	10	1229	c.1052C>T	c.(1051-1053)cCg>cTg	p.P351L	SGSM2_ENST00000574563.1_Missense_Mutation_p.P351L|SGSM2_ENST00000426855.2_Missense_Mutation_p.P351L	NM_014853.2	NP_055668.2	O43147	SGSM2_HUMAN	small G protein signaling modulator 2	351						intracellular	Rab GTPase activator activity			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(2;5.15e-05)|READ - Rectum adenocarcinoma(2;0.000115)		CAGAGGCCGCCGCTGCATTTC	0.647													T	2268242	C	T	2268242	3	4	645	1	0	0	0	0	1	0	0	0	14316	652	23	1	1090	1	SGSM2	17	2268242	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		2268242	78926968	49	52002											
DNAH2	146754	broad.mit.edu	37	chr17	7724586	7724586	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctgccgtacccttttcgaaCgccacaaactactattcagt	10	11	5	15	3	1	0	1	0	0	0	2	1	1	0	4	0	5	1	4	0	5	6			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:7724586C>T	ENST00000572933.1	+	73	12501	c.11041C>T	c.(11041-11043)Cgc>Tgc	p.R3681C	DNAH2_ENST00000389173.2_Missense_Mutation_p.R3681C			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3681					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				CCTTTTCGAACGCCACAAACT	0.498													T	7724586	C	T	7724586	3	4	645	1	0	0	0	0	1	0	0	0	4641	536	19	1	11327	1	DNAH2	17	7724586	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	5456344	7724586	73470624	50	52003											
PSMD11	5717	broad.mit.edu	37	chr17	30807620	30807620	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaaagtagtggattccCtctacaacaaagccaagaaa	17	7	8	9	0	1	2	0	1	1	1	2	3	2	3	2	1	4	2	2	1	7	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:30807620C>T	ENST00000261712.3	+	13	1503	c.1240C>T	c.(1240-1242)Ctc>Ttc	p.L414F	PSMD11_ENST00000457654.2_Missense_Mutation_p.L414F	NM_001270482.1|NM_002815.3	NP_001257411.1|NP_002806.2	O00231	PSD11_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 11	414					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome complex	protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	19		Breast(31;0.159)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.109)			AGTGGATTCCCTCTACAACAA	0.498													T	30807620	C	T	30807620	3	4	645	1	0	0	0	0	1	0	0	0	12779	681	24	2	1290	2	PSMD11	17	30807620	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	23083034	30807620	50387590	51	52004											
KRT40	125115	broad.mit.edu	37	chr17	39135153	39135153	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggtactcctggttctgtcGctccaggtcgcagcggatct	4	12	12	13	3	2	0	0	0	2	0	6	1	4	1	2	4	2	4	2	4	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr17:39135153G>A	ENST00000377755.4	-	6	1133	c.1099C>T	c.(1099-1101)Cga>Tga	p.R367*	KRT40_ENST00000398486.2_Nonsense_Mutation_p.R367*			Q6A162	K1C40_HUMAN	keratin 40	367	Coil 2.|Rod.					intermediate filament	structural molecule activity			endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9		Breast(137;0.00043)				TGGTTCTGTCGCTCCAGGTCG	0.617													A	39135153	G	A	39135153	4	1	645	1	0	0	0	0	0	1	0	0	8536	1095	38	1	204	1	KRT40	17	39135153	Nonsense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	8327533	39135153	42060057	52	52005											
LAMA3	3909	broad.mit.edu	37	chr18	21484035	21484035	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgcggtccttacaagagctgGcaaagcagctggaagagtga	12	6	14	9	2	0	3	0	1	0	2	1	4	1	4	1	3	4	4	1	3	4	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr18:21484035G>T	ENST00000313654.9	+	50	6698	c.6457G>T	c.(6457-6459)Gca>Tca	p.A2153S	LAMA3_ENST00000588770.1_3'UTR|LAMA3_ENST00000587184.1_Missense_Mutation_p.A488S|LAMA3_ENST00000269217.6_Missense_Mutation_p.A544S|LAMA3_ENST00000399516.3_Missense_Mutation_p.A2097S	NM_198129.1	NP_937762.1	Q16787	LAMA3_HUMAN	laminin, alpha 3	2153	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(24)|lung(54)|ovary(8)|prostate(6)|skin(7)|urinary_tract(4)	128	all_cancers(21;7.81e-05)|all_epithelial(16;4.45e-07)|Lung NSC(20;0.00156)|all_lung(20;0.00508)|Colorectal(14;0.0202)|Ovarian(20;0.17)				Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	ACAAGAGCTGGCAAAGCAGCT	0.552													T	21484035	G	T	21484035	3	4	645	1	0	0	0	0	1	0	0	0	8666	1203	42	4	6830	4	LAMA3	18	21484035	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		21484035	56593213	53	52006											
PPP1R15A	23645	broad.mit.edu	37	chr19	49377238	49377238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggaagacctccgtgtccCcccgatcttcaggctccgac	7	7	9	18	3	2	1	1	0	1	1	5	4	5	2	7	2	0	1	7	2	1	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:49377238C>T	ENST00000200453.5	+	2	1017	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S		NM_014330.3	NP_055145.3	O75807	PR15A_HUMAN	protein phosphatase 1, regulatory subunit 15A	250	Glu-rich.				apoptosis|cell cycle arrest|regulation of translation|response to DNA damage stimulus	endoplasmic reticulum	protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(8)|skin(2)|urinary_tract(1)	23		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000244)|all cancers(93;0.000694)|GBM - Glioblastoma multiforme(486;0.0222)|Epithelial(262;0.033)		CTCCGTGTCCCCCCGATCTTC	0.557													T	49377238	C	T	49377238	3	4	645	1	0	0	0	0	1	0	0	0	12445	623	22	2	750	2	PPP1R15A	19	49377238	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		49377238	9751745	54	52007											
NLRP12	91662	broad.mit.edu	37	chr19	54314082	54314082	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggatgagctcctggagaggCgcgctgggctcaggccagca	7	5	17	12	3	1	2	1	1	0	1	2	4	2	3	2	5	2	4	2	5	0	0			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:54314082C>T	ENST00000324134.6	-	3	999	c.831G>A	c.(829-831)gcG>gcA	p.A277A	NLRP12_ENST00000345770.5_Silent_p.A277A|NLRP12_ENST00000391775.3_Silent_p.A277A|NLRP12_ENST00000354278.3_Silent_p.A277A|NLRP12_ENST00000351894.4_Silent_p.A277A|NLRP12_ENST00000391773.1_Silent_p.A277A|NLRP12_ENST00000535162.1_Silent_p.A277A|NLRP12_ENST00000391772.1_Silent_p.A277A	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	277	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CCTGGAGAGGCGCGCTGGGCT	0.557													T	54314082	C	T	54314082	2	4	645	1	0	0	0	0	0	0	0	1	10550	755	27	1		1	NLRP12	19	54314082	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	4936844	54314082	4814901	55	52008											
ZNF135	7694	broad.mit.edu	37	chr19	58578819	58578819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acgagcgaactcacacaggcGagaagccctacgagtgcagt	13	4	12	12	4	1	1	1	0	0	1	1	5	1	1	1	1	5	1	1	1	3	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr19:58578819G>A	ENST00000506786.1	+	5	1395	c.841G>A	c.(841-843)Gag>Aag	p.E281K	ZNF135_ENST00000439855.2_Missense_Mutation_p.E323K|ZNF135_ENST00000401053.4_Missense_Mutation_p.E347K|ZNF135_ENST00000313434.5_Missense_Mutation_p.E323K|ZNF135_ENST00000359978.6_Missense_Mutation_p.E335K|ZNF135_ENST00000511556.1_Missense_Mutation_p.E335K			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	335					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	p.E347K(1)|p.E323K(1)		breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		TCACACAGGCGAGAAGCCCTA	0.542													A	58578819	G	A	58578819	3	1	645	1	0	0	0	0	1	0	0	0	17826	1059	37	1	1170	1	ZNF135	19	58578819	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	4264737	58578819	550164	56	52009											
PLCB1	23236	broad.mit.edu	37	chr20	8862382	8862382	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgaagacagcaatcaCggttctgcccctctctccct	9	10	7	15	1	4	2	2	1	2	1	6	2	5	2	3	1	2	2	3	1	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr20:8862382C>T	ENST00000338037.6	+	32	3564	c.3537C>T	c.(3535-3537)caC>caT	p.H1179H	PLCB1_ENST00000378641.3_3'UTR	NM_015192.2	NP_056007.1	Q9NQ66	PLCB1_HUMAN	phospholipase C, beta 1 (phosphoinositide-specific)	1179					activation of meiosis involved in egg activation|CD24 biosynthetic process|cerebral cortex development|G1 phase|G2/M transition of mitotic cell cycle|glutamate signaling pathway|insulin-like growth factor receptor signaling pathway|interleukin-1-mediated signaling pathway|interleukin-12-mediated signaling pathway|interleukin-15-mediated signaling pathway|intracellular signal transduction|lipid catabolic process|memory|muscarinic acetylcholine receptor signaling pathway|negative regulation of monocyte extravasation|negative regulation of transcription, DNA-dependent|phosphatidylinositol metabolic process|positive regulation of acrosome reaction|positive regulation of developmental growth|positive regulation of embryonic development|positive regulation of interleukin-12 production|positive regulation of JNK cascade|positive regulation of myoblast differentiation|positive regulation of transcription, DNA-dependent|regulation of fertilization|regulation of G-protein coupled receptor protein signaling pathway|synaptic transmission	cytosol|nuclear chromatin|nuclear speck	calcium ion binding|calmodulin binding|enzyme binding|GTPase activator activity|phosphatidylinositol phospholipase C activity|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity|signal transducer activity			NS(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(11)|liver(2)|lung(41)|ovary(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	95						ACAGCAATCACGGTTCTGCCC	0.493													T	8862382	C	T	8862382	2	4	645	1	0	0	0	0	0	0	0	1	12104	535	19	1		1	PLCB1	20	8862382	Silent	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		8862382	54163138	57	52010											
MX2	4600	broad.mit.edu	37	chr21	42774001	42774001	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttgagatcatcgtgcatCagtacatccagcagctggtg	10	11	10	10	1	2	1	2	1	0	1	4	2	3	1	1	1	4	4	1	1	1	2			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr21:42774001C>T	ENST00000330714.3	+	11	1703	c.1519C>T	c.(1519-1521)Cag>Tag	p.Q507*	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	507					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CATCGTGCATCAGTACATCCA	0.458													T	42774001	C	T	42774001	4	4	645	1	0	0	0	0	0	1	0	0	10074	827	29	2	1557	2	MX2	21	42774001	Nonsense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		42774001	5355894	58	52011											
LZTR1	8216	broad.mit.edu	37	chr22	21349017	21349017	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctgagccaactcaagGtgtggggtggggtcagcgca	8	7	17	9	1	2	1	2	1	0	0	2	1	2	1	1	5	5	3	1	5	2	0	rs145594158		TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:21349017G>A	ENST00000215739.8	+	15	2144		c.e15+1		LZTR1_ENST00000389355.3_Splice_Site|LZTR1_ENST00000479606.1_Splice_Site	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1						anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			CCAACTCAAGGTGTGGGGTGG	0.682													A	21349017	G	A	21349017	5	1	645	1	0	0	0	0	0	0	1	0	9208	1275	44	2	1844	2	LZTR1	22	21349017	Splice_Site	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08		21349017	29955549	59	52012											
SREBF2	6721	broad.mit.edu	37	chr22	42266998	42266998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagaacccggccctcaccGccctcaccacccctatccag	8	5	5	23	2	2	1	2	0	0	1	4	1	4	1	9	1	1	0	9	1	2	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chr22:42266998G>A	ENST00000361204.4	+	4	992	c.826G>A	c.(826-828)Gcc>Acc	p.A276T		NM_004599.2	NP_004590.2	Q12772	SRBP2_HUMAN	sterol regulatory element binding transcription factor 2	276	Interaction with LMNA (By similarity).				cholesterol metabolic process	ER to Golgi transport vesicle membrane|Golgi membrane|nucleus|SREBP-SCAP-Insig complex	protein C-terminus binding			NS(2)|breast(6)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	38						GGCCCTCACCGCCCTCACCAC	0.577													A	42266998	G	A	42266998	3	1	645	1	0	0	0	0	1	0	0	0	15238	1087	38	1	840	1	SREBF2	22	42266998	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	20917981	42266998	9037568	60	52013											
MAGEB4	4115	broad.mit.edu	37	chrX	30261033	30261033	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atctggaataccagcaggtgCccaacagtgatcccccacgc	11	6	9	15	1	1	1	0	1	1	0	2	2	2	2	4	2	4	1	4	2	3	1			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30261033C>A	ENST00000378982.2	+	1	977	c.781C>A	c.(781-783)Ccc>Acc	p.P261T		NM_002367.3	NP_002358.1	O15481	MAGB4_HUMAN	melanoma antigen family B, 4	261	MAGE.									breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	27						CCAGCAGGTGCCCAACAGTGA	0.493													A	30261033	C	A	30261033	3	1	645	1	0	0	0	0	1	0	0	0	9253	739	26	4	783	4	MAGEB4	23	30261033	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08		30261033	125009527	61	52014											
TAB3	257397	broad.mit.edu	37	chrX	30873304	30873304	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcctgtttgcatggaagatgGctgttgaggtggttgtgaag	7	14	16	4	0	0	3	0	2	0	1	1	4	1	4	1	4	1	5	1	4	2	3			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:30873304G>T	ENST00000378933.1	-	3	655	c.478C>A	c.(478-480)Cca>Aca	p.P160T	TAB3_ENST00000378932.2_Missense_Mutation_p.P160T|TAB3_ENST00000288422.2_Missense_Mutation_p.P160T|TAB3_ENST00000378930.3_Missense_Mutation_p.P160T	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	160	Pro-rich.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|stress-activated MAPK cascade|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|endosome membrane|plasma membrane	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						ATGGAAGATGGCTGTTGAGGT	0.478													T	30873304	G	T	30873304	3	4	645	1	0	0	0	0	1	0	0	0	15594	1203	42	4	1684	4	TAB3	23	30873304	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	612271	30873304	124397256	62	52015											
HDX	139324	broad.mit.edu	37	chrX	83577004	83577004	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catttcctctaattcaggagGtaaatctgacagcagtgcct	11	12	8	10	0	3	1	1	1	2	0	4	2	4	2	2	2	2	2	2	2	3	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:83577004G>T	ENST00000297977.5	-	10	2077	c.1966C>A	c.(1966-1968)Cct>Act	p.P656T	HDX_ENST00000506585.2_Missense_Mutation_p.P598T|HDX_ENST00000373177.2_Missense_Mutation_p.P656T	NM_001177479.1|NM_144657.4	NP_001170950.1|NP_653258.2	Q7Z353	HDX_HUMAN	highly divergent homeobox	656						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(12)|liver(1)|lung(19)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						AATTCAGGAGGTAAATCTGAC	0.343													T	83577004	G	T	83577004	3	4	645	1	0	0	0	0	1	0	0	0	7081	1261	44	4	110	4	HDX	23	83577004	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	52703700	83577004	71693556	63	52016											
CSTF2	1478	broad.mit.edu	37	chrX	100075434	100075434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgactgtgagagacccagCggtggatcgttctctacgtt	7	13	12	9	3	1	3	0	2	1	1	3	5	1	4	1	2	2	2	1	2	1	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:100075434C>T	ENST00000415585.2	+	1	51	c.29C>T	c.(28-30)gCg>gTg	p.A10V	CSTF2_ENST00000372972.2_Missense_Mutation_p.A10V			P33240	CSTF2_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 2, 64kDa	10					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	cleavage body|mRNA cleavage and polyadenylation specificity factor complex	nucleotide binding|protein binding|RNA binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	13						AGAGACCCAGCGGTGGATCGT	0.567													T	100075434	C	T	100075434	3	4	645	1	0	0	0	0	1	0	0	0	4017	768	27	1	31	1	CSTF2	23	100075434	Missense_Mutation	SNP	C	TCGA-P5-A72U-01A-31D-A32B-08	16498430	100075434	55195126	64	52017											
GPRASP1	9737	broad.mit.edu	37	chrX	101911740	101911740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agccagaaaatgaggaagggGccattgttgggtcttggttt	10	11	15	5	0	1	2	0	1	1	1	1	3	1	3	2	5	1	2	2	5	3	4			TCGA-P5-A72U-01A-31D-A32B-08	TCGA-P5-A72U-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e273ac4f-af5a-4671-813b-ce86f784fcbe	393cccc0-b27d-4b08-889c-1d74b31f3ce7	g.chrX:101911740G>T	ENST00000537097.1	+	6	3712	c.2899G>T	c.(2899-2901)Gcc>Tcc	p.A967S	GPRASP1_ENST00000361600.5_Missense_Mutation_p.A967S|GPRASP1_ENST00000415986.1_Missense_Mutation_p.A967S|RP4-769N13.7_ENST00000602441.1_RNA|GPRASP1_ENST00000444152.1_Missense_Mutation_p.A967S	NM_001184727.1	NP_001171656.1	Q5JY77	GASP1_HUMAN	G protein-coupled receptor associated sorting protein 1	967	Glu-rich.|OPRD1-binding.					cytoplasm	protein binding			NS(1)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						TGAGGAAGGGGCCATTGTTGG	0.483													T	101911740	G	T	101911740	3	4	645	1	0	0	0	0	1	0	0	0	6777	1203	42	4	2901	4	GPRASP1	23	101911740	Missense_Mutation	SNP	G	TCGA-P5-A72U-01A-31D-A32B-08	1836306	101911740	53358820	65	52018											
PHGDH	26227	broad.mit.edu	37	chr1	120263899	120263899	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctggcacaggtgtggacaAtgtggatctggaggccgcaa	9	7	17	8	1	1	0	0	0	1	0	1	3	1	3	1	7	0	3	1	7	2	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:120263899A>G	ENST00000369407.3	+	1	1650	c.143A>G	c.(142-144)aAt>aGt	p.N48S	PHGDH_ENST00000369409.4_Missense_Mutation_p.N82S			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	82					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GGTGTGGACAATGTGGATCTG	0.582													G	120263899	A	G	120263899	3	3	646	1	0	0	0	0	1	0	0	0	11918	101	4	3	251	3	PHGDH	1	120263899	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		120263899	128986722	1	52019											
DENND4B	9909	broad.mit.edu	37	chr1	153912182	153912182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgaagcggaggaaggctcCttggacttcgcgctccagcc	8	7	13	13	3	0	1	0	1	0	0	3	4	2	4	3	4	2	2	3	4	2	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:153912182C>T	ENST00000361217.4	-	12	2120	c.1702G>A	c.(1702-1704)Gga>Aga	p.G568R		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	568	dDENN.									NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			AGGAAGGCTCCTTGGACTTCG	0.627													T	153912182	C	T	153912182	3	4	646	1	0	0	0	0	1	0	0	0	4473	690	24	2	2856	2	DENND4B	1	153912182	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	33648283	153912182	95338439	2	52020											
OBSCN	84033	broad.mit.edu	37	chr1	228465550	228465550	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaatcgcgagcccagctcCgagtgaagggtgaggtgggg	9	5	18	9	3	0	3	0	2	0	1	2	5	1	3	2	4	2	1	2	4	2	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:228465550C>T	ENST00000570156.2	+	30	8211	c.8137C>T	c.(8137-8139)Cga>Tga	p.R2713*	OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000359599.6_Nonsense_Mutation_p.R1131*|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.R2284*|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.R2284*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	1710	Ig-like 26.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGCCCAGCTCCGAGTGAAGGG	0.632													T	228465550	C	T	228465550	4	4	646	1	0	0	0	0	0	1	0	0	10888	644	23	1	6944	1	OBSCN	1	228465550	Nonsense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	74553368	228465550	20785071	3	52021											
TARBP1	6894	broad.mit.edu	37	chr1	234546220	234546220	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatattttgagtaataatgtCtaaatgtgataaaactgcta	17	15	6	3	0	1	2	0	2	1	0	1	2	1	2	0	0	2	2	0	0	9	8			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:234546220C>G	ENST00000040877.1	-	23	3762	c.3763G>C	c.(3763-3765)Gac>Cac	p.D1255H		NM_005646.3	NP_005637.3	Q13395	TARB1_HUMAN	TAR (HIV-1) RNA binding protein 1	1255					regulation of transcription from RNA polymerase II promoter|RNA processing	nucleus	RNA binding|RNA methyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(7)|large_intestine(6)|lung(22)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	55	Ovarian(103;0.0339)	all_cancers(173;0.00995)|Prostate(94;0.0115)|all_epithelial(177;0.172)	OV - Ovarian serous cystadenocarcinoma(106;0.000263)			GTAATAATGTCTAAATGTGAT	0.244													G	234546220	C	G	234546220	3	3	646	1	0	0	0	0	1	0	0	0	15652	913	32	4	1134	4	TARBP1	1	234546220	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	6080670	234546220	14704401	4	52022											
OR2T6	254879	broad.mit.edu	37	chr1	248551088	248551088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcatctccacacccccatgtActtcctcctcagccacctct	7	11	2	21	0	4	0	2	0	2	0	7	0	6	0	7	0	2	1	7	0	1	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr1:248551088A>G	ENST00000355728.2	+	1	179	c.179A>G	c.(178-180)tAc>tGc	p.Y60C		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			ACCCCCATGTACTTCCTCCTC	0.483													G	248551088	A	G	248551088	3	3	646	1	0	0	0	0	1	0	0	0	11105	391	14	3	181	3	OR2T6	1	248551088	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	14004868	248551088	699533	5	52023											
KCNJ3	3760	broad.mit.edu	37	chr2	155555776	155555776	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagggcatcatcctcttcctCttccagtccatcctgggctc	5	12	8	16	0	3	0	1	0	2	0	9	1	8	0	5	2	0	2	5	2	0	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:155555776C>G	ENST00000295101.2	+	1	966	c.489C>G	c.(487-489)ctC>ctG	p.L163L	KCNJ3_ENST00000544049.1_Silent_p.L163L	NM_001260509.1|NM_002239.3	NP_001247438.1|NP_002230.1	P48549	IRK3_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 3	163					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding	p.L163L(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(9)|lung(30)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	54					Halothane(DB01159)	TCCTCTTCCTCTTCCAGTCCA	0.572													G	155555776	C	G	155555776	2	3	646	1	0	0	0	0	0	0	0	1	8110	900	32	4		4	KCNJ3	2	155555776	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		155555776	87643597	6	52024											
TTN	7273	broad.mit.edu	37	chr2	179455517	179455517	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacccatttgccagttactTctcgacgttccatatagtag	9	14	6	12	2	2	0	1	0	1	0	4	1	3	0	3	0	2	3	3	0	4	7			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:179455517T>G	ENST00000589042.1	-	304	61159	c.60935A>C	c.(60934-60936)gAa>gCa	p.E20312A	TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590743.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E17744A|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E11247A|TTN_ENST00000342175.6_Missense_Mutation_p.E11439A|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.E18671A|TTN_ENST00000359218.5_Missense_Mutation_p.E11372A	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18671							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCAGTTACTTCTCGACGTTC	0.438													G	179455517	T	G	179455517	3	3	646	1	0	0	0	0	1	0	0	0	16837	1783	62	5	47280	5	TTN	2	179455517	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08	23899741	179455517	63743856	7	52025											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	646	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	29657595	209113112	34086261	8	52026											
GLB1L	79411	broad.mit.edu	37	chr2	220101997	220101997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacagcaggaatcttggcaCgtagagggtctgttgtggcc	10	9	14	8	1	2	1	0	0	2	1	2	2	2	2	1	4	2	4	1	4	3	3	rs144432913		TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr2:220101997C>T	ENST00000295759.7	-	17	2075	c.1762G>A	c.(1762-1764)Gtg>Atg	p.V588M	GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000356283.3_Missense_Mutation_p.V498M|GLB1L_ENST00000392089.2_Missense_Mutation_p.V588M|GLB1L_ENST00000409640.1_Missense_Mutation_p.V498M			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	588					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AATCTTGGCACGTAGAGGGTC	0.512													T	220101997	C	T	220101997	3	4	646	1	0	0	0	0	1	0	0	0	6484	536	19	1	206	1	GLB1L	2	220101997	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	10988885	220101997	23097376	9	52027											
FANCD2	2177	broad.mit.edu	37	chr3	10136015	10136015	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catttctgaagcaatgtatgCcgctcctagacttcagtttt	9	15	7	10	1	2	2	1	1	1	1	3	2	3	2	2	0	2	4	2	0	4	6			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:10136015C>T	ENST00000287647.3	+	40	4024	c.3931C>T	c.(3931-3933)Ccg>Tcg	p.P1311S	FANCD2_ENST00000419585.1_Missense_Mutation_p.P1311S|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2OS_ENST00000436517.1_Intron|FANCD2_ENST00000383807.1_Missense_Mutation_p.P1311S	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1311					DNA repair|response to gamma radiation	nucleoplasm	protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GCAATGTATGCCGCTCCTAGA	0.458			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				T	10136015	C	T	10136015	3	4	646	1	0	0	0	0	1	0	0	0	5714	739	26	2	4085	2	FANCD2	3	10136015	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		10136015	187886415	10	52028											
OSBPL10	114884	broad.mit.edu	37	chr3	31774775	31774775	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctctggctgtgaggtttgttCgtcttcagcagagtttggta	5	16	13	7	1	3	2	1	1	2	1	4	2	3	2	0	3	1	6	0	3	1	5			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:31774775C>G	ENST00000396556.2	-	6	1191	c.1069G>C	c.(1069-1071)Gaa>Caa	p.E357Q	OSBPL10_ENST00000467647.1_5'UTR|OSBPL10_ENST00000438237.2_Missense_Mutation_p.E293Q	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	357					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GAGGTTTGTTCGTCTTCAGCA	0.453													G	31774775	C	G	31774775	3	3	646	1	0	0	0	0	1	0	0	0	11351	893	31	4	1253	4	OSBPL10	3	31774775	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	21638760	31774775	166247655	11	52029											
SCAP	22937	broad.mit.edu	37	chr3	47455478	47455481	+	Frame_Shift_Del	DEL	CTGT	CTGT	-																															actgttcttccccaggtagaCtgtctgtaacaggtccccgt																										TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:47455478_47455481delCTGT	ENST00000265565.5	-	23	4115_4118	c.3703_3706delACAG	c.(3703-3708)acagtcfs	p.TV1235fs	SCAP_ENST00000441517.2_Frame_Shift_Del_p.TV979fs|SCAP_ENST00000545718.1_Frame_Shift_Del_p.TV842fs	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1235	Interaction with SREBF2 (By similarity).				cholesterol metabolic process|negative regulation of cholesterol biosynthetic process|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of transcription via sterol regulatory element binding involved in ER-nuclear sterol response pathway	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane	unfolded protein binding			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CCCAGGTAGACTGTCTGTAACAGG	0.583													-	47455481	CTGT	-	47455478	7	5	646	1	0	1	0	1	0	0	0	0	13969	565	20	0	137	0	SCAP	3	47455478	Frame_Shift_Del	DEL	CTGT	TCGA-P5-A72W-01A-11D-A32B-08	15680703	47455478	150566952	12	52030											
COL7A1	1294	broad.mit.edu	37	chr3	48618703	48618703	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcctcttacatctcgtcctCgggggccaacaggtcctggg	6	9	12	14	2	2	0	0	0	2	0	6	0	4	0	4	4	3	0	4	4	2	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr3:48618703C>T	ENST00000328333.8	-	51	4996	c.4889G>A	c.(4888-4890)cGa>cAa	p.R1630Q	COL7A1_ENST00000454817.1_Missense_Mutation_p.R1630Q	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	1630	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		ATCTCGTCCTCGGGGGCCAAC	0.642													T	48618703	C	T	48618703	3	4	646	1	0	0	0	0	1	0	0	0	3735	884	31	1	4217	1	COL7A1	3	48618703	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	1163225	48618703	149403727	13	52031											
FAT1	2195	broad.mit.edu	37	chr4	187530420	187530420	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttccttggttgccatctaTaattgagtagtggatgtggc	7	15	12	7	0	1	1	0	1	1	0	2	2	2	2	2	3	1	3	2	3	3	7			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr4:187530420T>G	ENST00000441802.2	-	16	10332	c.10123A>C	c.(10123-10125)Ata>Cta	p.I3375L		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3375	Cadherin 31.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TTGCCATCTATAATTGAGTAG	0.488										HNSCC(5;0.00058)			G	187530420	T	G	187530420	3	3	646	1	0	0	0	0	1	0	0	0	5738	1406	49	5	3691	5	FAT1	4	187530420	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		187530420	3623856	14	52032											
RAD50	10111	broad.mit.edu	37	chr5	131972886	131972886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtggcgaagtacctatcgtGgacaaggtgagtaccatggt	10	10	14	7	2	0	1	0	1	0	0	1	3	0	2	2	4	2	2	2	4	5	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr5:131972886G>A	ENST00000378823.3	+	22	3870	c.3052G>A	c.(3052-3054)Gga>Aga	p.G1018R	RAD50_ENST00000265335.6_Missense_Mutation_p.G1157R|AC004041.2_ENST00000457489.1_RNA	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	1157					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TACCTATCGTGGACAAGGTGA	0.433								Homologous recombination					A	131972886	G	A	131972886	3	1	646	1	0	0	0	0	1	0	0	0	13072	1349	47	2	3555	2	RAD50	5	131972886	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		131972886	48942374	15	52033											
ARHGAP18	93663	broad.mit.edu	37	chr6	129929056	129929056	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctggacagcctgaaaggCtttgagatactccacactga	12	9	9	11	0	1	3	0	3	1	1	2	5	2	4	2	2	2	1	2	2	2	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr6:129929056C>G	ENST00000368149.2	-	9	1352	c.1264G>C	c.(1264-1266)Gcc>Ccc	p.A422P		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	422	Rho-GAP.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCTGAAAGGCTTTGAGATAC	0.468													G	129929056	C	G	129929056	3	3	646	1	0	0	0	0	1	0	0	0	871	797	28	4	755	4	ARHGAP18	6	129929056	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		129929056	41186011	16	52034											
ANLN	54443	broad.mit.edu	37	chr7	36462334	36462334	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagtccccaaagtgaatttAtgccatccaaaggatcagtt	13	11	7	10	0	1	1	1	1	0	0	3	2	3	2	4	1	1	1	4	1	5	4			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:36462334A>G	ENST00000265748.2	+	14	2613	c.2392A>G	c.(2392-2394)Atg>Gtg	p.M798V	ANLN_ENST00000396068.2_Missense_Mutation_p.M761V	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	798	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						AAGTGAATTTATGCCATCCAA	0.398													G	36462334	A	G	36462334	3	3	646	1	0	0	0	0	1	0	0	0	694	449	16	3	2446	3	ANLN	7	36462334	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		36462334	122676329	17	52035											
RAMP3	10268	broad.mit.edu	37	chr7	45222877	45222877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagttcttctccaactgcAccgtggacagggtccacttg	7	10	11	13	1	2	0	0	0	2	0	4	1	3	1	3	3	2	3	3	3	1	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr7:45222877A>G	ENST00000242249.4	+	3	351	c.313A>G	c.(313-315)Acc>Gcc	p.T105A	RAMP3_ENST00000481345.1_Missense_Mutation_p.T105A|RAMP3_ENST00000496212.1_Missense_Mutation_p.T105A	NM_005856.2	NP_005847.1	O60896	RAMP3_HUMAN	receptor (G protein-coupled) activity modifying protein 3	105					intracellular protein transport|receptor-mediated endocytosis|regulation of G-protein coupled receptor protein signaling pathway	integral to plasma membrane|lysosome	protein transporter activity			breast(1)|endometrium(1)|large_intestine(4)|lung(4)|stomach(1)	11					Pramlintide(DB01278)	CTCCAACTGCACCGTGGACAG	0.622													G	45222877	A	G	45222877	3	3	646	1	0	0	0	0	1	0	0	0	13111	159	6	3	323	3	RAMP3	7	45222877	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	8760543	45222877	113915786	18	52036											
KLHL38	340359	broad.mit.edu	37	chr8	124664297	124664297	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggctgtccttccttccGcccaagaggatgaggaaatc	8	10	11	12	1	0	2	0	1	0	1	4	4	3	4	4	3	1	2	4	3	2	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:124664297G>A	ENST00000325995.7	-	1	893	c.870C>T	c.(868-870)ggC>ggT	p.G290G	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	290										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						CCTTCCTTCCGCCCAAGAGGA	0.547													A	124664297	G	A	124664297	2	1	646	1	0	0	0	0	0	0	0	1	8448	1074	38	1		1	KLHL38	8	124664297	Silent	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		124664297	21699725	19	52037											
PLEC	5339	broad.mit.edu	37	chr8	144995605	144995605	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgctcccggacgatgaggCccttctgcatggcttggaag	6	9	14	12	3	1	1	0	1	1	0	2	4	2	3	2	4	2	3	2	4	1	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr8:144995605C>T	ENST00000322810.4	-	32	8964	c.8795G>A	c.(8794-8796)gGc>gAc	p.G2932D	PLEC_ENST00000345136.3_Missense_Mutation_p.G2795D|PLEC_ENST00000436759.2_Missense_Mutation_p.G2822D|PLEC_ENST00000398774.2_Missense_Mutation_p.G2763D|PLEC_ENST00000354958.2_Missense_Mutation_p.G2773D|PLEC_ENST00000354589.3_Missense_Mutation_p.G2795D|PLEC_ENST00000357649.2_Missense_Mutation_p.G2799D|PLEC_ENST00000527096.1_Missense_Mutation_p.G2818D|PLEC_ENST00000356346.3_Missense_Mutation_p.G2781D	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2932	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GACGATGAGGCCCTTCTGCAT	0.672													T	144995605	C	T	144995605	3	4	646	1	0	0	0	0	1	0	0	0	12129	739	26	2	5263	2	PLEC	8	144995605	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	20331308	144995605	1368417	20	52038											
PTER	9317	broad.mit.edu	37	chr10	16526678	16526678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggggctttggtggaaaacAcaaccactgggattagccga	12	7	14	8	1	0	0	0	0	0	0	0	4	0	2	2	5	3	1	2	5	4	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:16526678A>G	ENST00000378000.1	+	3	541	c.295A>G	c.(295-297)Aca>Gca	p.T99A	PTER_ENST00000423462.2_Missense_Mutation_p.T99A|PTER_ENST00000535784.2_Missense_Mutation_p.T99A|PTER_ENST00000298942.3_Missense_Mutation_p.T99A	NM_001001484.2|NM_001261838.1|NM_030664.4	NP_001001484.1|NP_001248767.1|NP_109589.2	Q96BW5	PTER_HUMAN	phosphotriesterase related	99					catabolic process		hydrolase activity, acting on ester bonds|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)	15						GGTGGAAAACACAACCACTGG	0.443													G	16526678	A	G	16526678	3	3	646	1	0	0	0	0	1	0	0	0	12824	159	6	3	297	3	PTER	10	16526678	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		16526678	119008069	21	52039											
CDH23	64072	broad.mit.edu	37	chr10	73450310	73450310	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctactccttggaaggCtccacccagtttcggatcaa	10	11	7	13	1	3	0	2	0	1	0	6	2	5	2	3	3	1	2	3	3	3	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:73450310C>T	ENST00000224721.6	+	19	2165	c.2160C>T	c.(2158-2160)ggC>ggT	p.G720G	CDH23_ENST00000299366.7_Silent_p.G760G	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	715	Cadherin 7.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						CCTTGGAAGGCTCCACCCAGT	0.622													T	73450310	C	T	73450310	2	4	646	1	0	0	0	0	0	0	0	1	3138	784	28	2		2	CDH23	10	73450310	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	56923632	73450310	62084437	22	52040											
ENTPD1	953	broad.mit.edu	37	chr10	97605280	97605280	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctatggcaaggactacaAtgtctacacacatagcttct	12	11	6	12	0	3	0	0	0	3	0	3	1	3	1	1	2	3	2	1	2	6	5			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr10:97605280A>G	ENST00000371203.5	+	5	913	c.326A>G	c.(325-327)aAt>aGt	p.N109S	ENTPD1_ENST00000539125.1_Missense_Mutation_p.N109S|RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000371205.4_Missense_Mutation_p.N247S|ENTPD1_ENST00000453258.2_Missense_Mutation_p.N254S|ENTPD1_ENST00000543964.1_Missense_Mutation_p.N139S|ENTPD1_ENST00000371207.3_Missense_Mutation_p.N259S	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	247					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		AAGGACTACAATGTCTACACA	0.488													G	97605280	A	G	97605280	3	3	646	1	0	0	0	0	1	0	0	0	5179	101	4	3	859	3	ENTPD1	10	97605280	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	24154970	97605280	37929467	23	52041											
MUC5B	727897	broad.mit.edu	37	chr11	1272726	1272726	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accgcctcctccactctgggAacagctcacacccccaaagt	10	6	6	19	1	2	0	1	0	1	0	4	1	4	1	6	1	2	1	6	1	2	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:1272726A>T	ENST00000447027.1	+	31	14683	c.14625A>T	c.(14623-14625)ggA>ggT	p.G4875G	MUC5B_ENST00000529681.1_Silent_p.G4872G			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4872	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACTCTGGGAACAGCTCACA	0.662													T	1272726	A	T	1272726	2	4	646	1	0	0	0	0	0	0	0	1	10055	233	9	5		5	MUC5B	11	1272726	Silent	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		1272726	133733790	24	52042											
LUZP2	338645	broad.mit.edu	37	chr11	24753686	24753686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttaaaaaacgatgagcagtCtgccaaaactgatgttcaga	16	9	8	8	1	2	3	1	2	1	1	2	4	2	3	1	0	4	2	1	0	5	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:24753686C>G	ENST00000336930.6	+	3	269	c.203C>G	c.(202-204)tCt>tGt	p.S68C	LUZP2_ENST00000533227.1_5'UTR|LUZP2_ENST00000531187.1_3'UTR			Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	68						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						GATGAGCAGTCTGCCAAAACT	0.338													G	24753686	C	G	24753686	3	3	646	1	0	0	0	0	1	0	0	0	9157	913	32	4	213	4	LUZP2	11	24753686	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	23480960	24753686	110252830	25	52043											
OR4P4	81300	broad.mit.edu	37	chr11	55406056	55406056	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgctacacatccacaGtgacccccaaattaatggtt	12	11	5	13	0	0	1	0	1	0	0	1	1	1	1	4	1	2	2	4	1	3	4			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:55406056G>T	ENST00000314612.2	+	1	223	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	75					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						CACATCCACAGTGACCCCCAA	0.408													T	55406056	G	T	55406056	3	4	646	1	0	0	0	0	1	0	0	0	11156	1029	36	4	225	4	OR4P4	11	55406056	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	30652370	55406056	79600460	26	52044											
SLC43A3	29015	broad.mit.edu	37	chr11	57193592	57193592	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcaaagcccaggcattcCagcagcccagtcagcagtgt	11	5	10	15	0	1	0	1	0	0	0	2	0	2	0	4	1	5	4	4	1	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:57193592C>T	ENST00000395123.2	-	3	358	c.54G>A	c.(52-54)ctG>ctA	p.L18L	SLC43A3_ENST00000528098.1_5'UTR|SLC43A3_ENST00000352187.1_Silent_p.L18L|SLC43A3_ENST00000395124.1_Silent_p.L18L|SLC43A3_ENST00000533524.1_Silent_p.L18L|SLC43A3_ENST00000529554.1_Silent_p.L18L	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	18					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						CCAGGCATTCCAGCAGCCCAG	0.552													T	57193592	C	T	57193592	2	4	646	1	0	0	0	0	0	0	0	1	14728	581	21	2		2	SLC43A3	11	57193592	Silent	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08	1787536	57193592	77812924	27	52045											
SSSCA1	10534	broad.mit.edu	37	chr11	65338967	65338967	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccagcccccagtacctcGtccggagcactgtgagggag	7	5	13	16	2	0	1	0	1	0	0	2	3	1	3	6	2	3	2	6	2	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:65338967G>C	ENST00000531405.1	+	3	487	c.251G>C	c.(250-252)cGt>cCt	p.R84P	SSSCA1_ENST00000526877.1_3'UTR|SSSCA1_ENST00000309328.3_Missense_Mutation_p.R121P|SSSCA1_ENST00000527920.1_Intron			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	121					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CCAGTACCTCGTCCGGAGCAC	0.662													C	65338967	G	C	65338967	3	2	646	1	0	0	0	0	1	0	0	0	15291	1145	40	4	376	4	SSSCA1	11	65338967	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	8145375	65338967	69667549	28	52046											
XRRA1	143570	broad.mit.edu	37	chr11	74618234	74618235	+	Frame_Shift_Del	DEL	TC	TC	-																															aagcaactggggttggagagTctgttgtcatccagcatcag																										TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:74618234_74618235delTC	ENST00000340360.6	-	9	1047_1048	c.716_717delGA	c.(715-717)agafs	p.R239fs	RP11-147I3.1_ENST00000533875.1_RNA|XRRA1_ENST00000321448.8_Frame_Shift_Del_p.R6fs|XRRA1_ENST00000527087.1_Frame_Shift_Del_p.R239fs	NM_182969.2	NP_892014.1	Q6P2D8	XRRA1_HUMAN	X-ray radiation resistance associated 1	239					response to X-ray	cytoplasm|nucleus				breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(3)	20						GGTTGGAGAGTCTGTTGTCATC	0.55													-	74618235	TC	-	74618234	7	5	646	1	0	1	0	1	0	0	0	0	17563	1664	58	0	1705	0	XRRA1	11	74618234	Frame_Shift_Del	DEL	TC	TCGA-P5-A72W-01A-11D-A32B-08	9279267	74618234	60388282	29	52047											
RNF26	79102	broad.mit.edu	37	chr11	119206053	119206053	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgatcgaagccgtggtccGgttcacatgtgggggcttgc	5	11	15	10	3	1	1	1	1	0	0	3	2	2	1	2	4	2	2	2	4	1	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr11:119206053G>T	ENST00000311413.4	+	1	817	c.221G>T	c.(220-222)cGg>cTg	p.R74L		NM_032015.4	NP_114404.1	Q9BY78	RNF26_HUMAN	ring finger protein 26	74	Leu-rich.						zinc ion binding			cervix(1)|endometrium(1)|kidney(1)|lung(7)|ovary(1)|prostate(1)	12		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;3.8e-05)		GCCGTGGTCCGGTTCACATGT	0.587													T	119206053	G	T	119206053	3	4	646	1	0	0	0	0	1	0	0	0	13577	1116	39	4	223	4	RNF26	11	119206053	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	44587819	119206053	15800463	30	52048											
CLEC4D	338339	broad.mit.edu	37	chr12	8673742	8673742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctggcataagaatgaacccGacaactctcagggagaaaac	16	6	9	10	1	2	3	1	1	2	2	3	5	2	3	1	2	3	1	1	2	6	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:8673742G>A	ENST00000299665.2	+	6	716	c.523G>A	c.(523-525)Gac>Aac	p.D175N		NM_080387.4	NP_525126.2	Q8WXI8	CLC4D_HUMAN	C-type lectin domain family 4, member D	175	C-type lectin.				innate immune response	integral to membrane	sugar binding			large_intestine(4)|lung(6)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	14	Lung SC(5;0.184)					GAATGAACCCGACAACTCTCA	0.338													A	8673742	G	A	8673742	3	1	646	1	0	0	0	0	1	0	0	0	3545	1058	37	1	545	1	CLEC4D	12	8673742	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		8673742	125178153	31	52049											
PLCZ1	89869	broad.mit.edu	37	chr12	18847986	18847986	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattttgcagatccatgggcAgaccaggggtctggaaattt	10	11	12	8	0	1	2	0	0	1	2	2	3	2	3	2	4	1	2	2	4	1	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:18847986A>T	ENST00000266505.7	-	12	1582	c.1319T>A	c.(1318-1320)cTg>cAg	p.L440Q	PLCZ1_ENST00000539875.1_Missense_Mutation_p.L247Q|PLCZ1_ENST00000541695.1_Missense_Mutation_p.L303Q|PLCZ1_ENST00000447925.2_Missense_Mutation_p.L438Q|PLCZ1_ENST00000435379.1_Missense_Mutation_p.L245Q|PLCZ1_ENST00000538330.1_Missense_Mutation_p.L222Q			Q86YW0	PLCZ1_HUMAN	phospholipase C, zeta 1	440	PI-PLC Y-box.				intracellular signal transduction|lipid catabolic process|multicellular organismal development	nucleus|perinuclear region of cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	31	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)					ATCCATGGGCAGACCAGGGGT	0.353													T	18847986	A	T	18847986	3	4	646	1	0	0	0	0	1	0	0	0	12121	188	7	5	523	5	PLCZ1	12	18847986	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08	10174244	18847986	115003909	32	52050											
LRP1	4035	broad.mit.edu	37	chr12	57586737	57586737	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggggccgaatcctccaggaTgacctcacctgccgaggtga	8	6	14	13	2	1	2	1	2	0	0	3	5	3	3	6	4	1	0	6	4	1	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr12:57586737T>A	ENST00000243077.3	+	45	8005	c.7539T>A	c.(7537-7539)gaT>gaA	p.D2513E		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2513	EGF-like 10.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TCCTCCAGGATGACCTCACCT	0.642													A	57586737	T	A	57586737	3	1	646	1	0	0	0	0	1	0	0	0	9021	1461	51	5	7717	5	LRP1	12	57586737	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08	38738751	57586737	76265158	33	52051											
HNRNPC	3183	broad.mit.edu	37	chr14	21702141	21702141	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccagcaatcattctgccaTcctctcctgctacagcagcc	8	9	7	17	0	3	0	1	0	2	0	5	0	4	0	5	1	6	3	5	1	2	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr14:21702141T>A	ENST00000430246.2	-	2	3163	c.212A>T	c.(211-213)gAt>gTt	p.D71V	HNRNPC_ENST00000556513.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000554969.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553300.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000557201.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000553753.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000556628.1_Intron|HNRNPC_ENST00000556142.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000320084.7_Missense_Mutation_p.D71V|HNRNPC_ENST00000556897.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555883.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000554455.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000449098.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000420743.2_Missense_Mutation_p.D71V|HNRNPC_ENST00000336053.6_Missense_Mutation_p.D71V|HNRNPC_ENST00000555914.1_Missense_Mutation_p.D71V|HNRNPC_ENST00000555309.1_Missense_Mutation_p.D71V			P07910	HNRPC_HUMAN	heterogeneous nuclear ribonucleoprotein C (C1/C2)	71	RRM.					catalytic step 2 spliceosome|nucleoplasm	identical protein binding|nucleotide binding|RNA binding			breast(1)|liver(1)|lung(6)|skin(1)	9	all_cancers(95;0.00176)		Epithelial(56;1.08e-06)|all cancers(55;8.95e-06)	GBM - Glioblastoma multiforme(265;0.00783)		CATTCTGCCATCCTCTCCTGC	0.413													A	21702141	T	A	21702141	3	1	646	1	0	0	0	0	1	0	0	0	7317	1435	50	5	736	5	HNRNPC	14	21702141	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		21702141	85647399	34	52052											
ATP10A	57194	broad.mit.edu	37	chr15	25932867	25932867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactgtgtttttgtagaagaAgtacagcaccatgttggcaa	12	13	10	6	0	0	2	0	0	0	2	0	2	0	2	1	1	3	6	1	1	6	6			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr15:25932867A>G	ENST00000356865.6	-	16	3385	c.3274T>C	c.(3274-3276)Ttc>Ctc	p.F1092L		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1092					ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		TTGTAGAAGAAGTACAGCACC	0.498													G	25932867	A	G	25932867	3	3	646	1	0	0	0	0	1	0	0	0	1121	72	3	3	1249	3	ATP10A	15	25932867	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		25932867	76598525	35	52053											
DPEP3	64180	broad.mit.edu	37	chr16	68010039	68010039	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcaggtttccacgaaggAcaccttgaagctcttcctcg	9	9	10	13	2	1	1	0	1	1	0	4	3	3	2	3	2	2	4	3	2	2	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr16:68010039A>G	ENST00000268793.4	-	9	1635	c.1262T>C	c.(1261-1263)gTc>gCc	p.V421A		NM_001129758.1|NM_022357.3	NP_001123230.1|NP_071752.3	Q9H4B8	DPEP3_HUMAN	dipeptidase 3	396					meiosis	anchored to membrane	dipeptidase activity|dipeptidyl-peptidase activity|metal ion binding|metalloexopeptidase activity			breast(4)|endometrium(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	20		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0117)|Epithelial(162;0.0481)|all cancers(182;0.236)		TCCACGAAGGACACCTTGAAG	0.557													G	68010039	A	G	68010039	3	3	646	1	0	0	0	0	1	0	0	0	4754	275	10	3	287	3	DPEP3	16	68010039	Missense_Mutation	SNP	A	TCGA-P5-A72W-01A-11D-A32B-08		68010039	22344714	36	52054											
TP53	7157	broad.mit.edu	37	chr17	7577568	7577568	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcccatgcaggaactgttaCacatgtagttgtagtggatg	10	11	12	8	1	0	0	0	0	0	0	0	2	0	2	1	2	3	5	1	2	4	4			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr17:7577568C>A	ENST00000420246.2	-	7	845	c.713G>T	c.(712-714)tGt>tTt	p.C238F	TP53_ENST00000269305.4_Missense_Mutation_p.C238F|TP53_ENST00000455263.2_Missense_Mutation_p.C238F|TP53_ENST00000445888.2_Missense_Mutation_p.C238F|TP53_ENST00000359597.4_Missense_Mutation_p.C238F|TP53_ENST00000413465.2_Missense_Mutation_p.C238F	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	238	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		C -> F (in sporadic cancers; somatic mutation).|C -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in a familial cancer not matching LFS; 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.C238Y(65)|p.C238F(46)|p.C238S(9)|p.0?(8)|p.?(5)|p.C145F(5)|p.C145Y(5)|p.M237_N239delMCN(4)|p.C238fs*21(1)|p.M237fs*1(1)|p.M144_N146delMCN(1)|p.C238del(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.H233fs*6(1)|p.C238_M246delCNSSCMGGM(1)|p.H233_C242del10(1)|p.N239_C242del(1)|p.C145S(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)		GGAACTGTTACACATGTAGTT	0.572		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)			A	7577568	C	A	7577568	3	1	646	1	0	0	0	0	1	0	0	0	16482	478	17	4	577	4	TP53	17	7577568	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		7577568	73617642	37	52055											
APOE	348	broad.mit.edu	37	chr19	45411116	45411116	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgctgggaactggcacTgggtcgcttttgggattacc	6	10	14	11	2	0	0	0	0	0	0	1	2	0	2	2	4	3	3	2	4	2	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr19:45411116T>G	ENST00000252486.4	+	3	254	c.143T>G	c.(142-144)cTg>cGg	p.L48R		NM_000041.2	NP_000032.1	P02649	APOE_HUMAN	apolipoprotein E	48					anti-apoptosis|Cdc42 protein signal transduction|cell death|cGMP-mediated signaling|cholesterol efflux|cholesterol homeostasis|chylomicron remnant clearance|cytoskeleton organization|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|high-density lipoprotein particle clearance|high-density lipoprotein particle remodeling|induction of apoptosis|intracellular transport|negative regulation of blood vessel endothelial cell migration|negative regulation of cholesterol biosynthetic process|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of platelet activation|nitric oxide mediated signal transduction|phospholipid efflux|positive regulation of cGMP biosynthetic process|positive regulation of cholesterol efflux|positive regulation of cholesterol esterification|positive regulation of low-density lipoprotein particle receptor catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of nitric-oxide synthase activity|receptor-mediated endocytosis|regulation of axon extension|regulation of neuronal synaptic plasticity|response to reactive oxygen species|reverse cholesterol transport|synaptic transmission, cholinergic|triglyceride metabolic process|very-low-density lipoprotein particle clearance|very-low-density lipoprotein particle remodeling	chylomicron|dendrite|high-density lipoprotein particle|intermediate-density lipoprotein particle|low-density lipoprotein particle|neuronal cell body|very-low-density lipoprotein particle	antioxidant activity|beta-amyloid binding|heparin binding|low-density lipoprotein particle receptor binding|metal chelating activity|phosphatidylcholine-sterol O-acyltransferase activator activity|phospholipid binding|protein heterodimerization activity|protein homodimerization activity|tau protein binding|very-low-density lipoprotein particle receptor binding			large_intestine(1)|lung(2)|prostate(1)	4	Lung NSC(12;0.0018)|all_lung(12;0.00481)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00327)|Epithelial(262;0.174)	Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	GAACTGGCACTGGGTCGCTTT	0.652													G	45411116	T	G	45411116	3	3	646	1	0	0	0	0	1	0	0	0	805	1580	55	5	149	5	APOE	19	45411116	Missense_Mutation	SNP	T	TCGA-P5-A72W-01A-11D-A32B-08		45411116	13717867	38	52056											
PLCB4	5332	broad.mit.edu	37	chr20	9400537	9400537	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctgttgatggtgttattgCagccacttgctcagtgcagg	6	14	12	9	0	1	1	1	1	0	0	2	1	2	1	2	2	4	5	2	2	1	4			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:9400537C>G	ENST00000378501.2	+	22	2114	c.2099C>G	c.(2098-2100)gCa>gGa	p.A700G	PLCB4_ENST00000414679.2_Missense_Mutation_p.A712G|PLCB4_ENST00000492632.1_3'UTR|PLCB4_ENST00000378493.1_Missense_Mutation_p.A700G|PLCB4_ENST00000378473.3_Missense_Mutation_p.A712G|PLCB4_ENST00000278655.4_Missense_Mutation_p.A700G|PLCB4_ENST00000334005.3_Missense_Mutation_p.A700G	NM_000933.3	NP_000924.3	Q15147	PLCB4_HUMAN	phospholipase C, beta 4	700	C2.				intracellular signal transduction|lipid catabolic process	cytosol	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity			NS(2)|breast(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(11)|liver(4)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(19)|upper_aerodigestive_tract(1)	87						GGTGTTATTGCAGCCACTTGC	0.423													G	9400537	C	G	9400537	3	3	646	1	0	0	0	0	1	0	0	0	12107	710	25	4	2225	4	PLCB4	20	9400537	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		9400537	53624983	39	52057											
PROCR	10544	broad.mit.edu	37	chr20	33762688	33762688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgggcgcgcacgcagagtgGcctgcagtcctacctgctcc	5	7	13	16	3	0	1	0	0	0	1	2	1	2	1	4	2	3	4	4	2	1	1			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:33762688G>A	ENST00000216968.4	+	2	336	c.254G>A	c.(253-255)gGc>gAc	p.G85D	EDEM2_ENST00000540582.1_Intron	NM_006404.3	NP_006395.2	Q9UNN8	EPCR_HUMAN	protein C receptor, endothelial	85					antigen processing and presentation|blood coagulation|immune response	integral to plasma membrane|MHC class I protein complex	receptor activity			breast(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10			BRCA - Breast invasive adenocarcinoma(18;0.0152)		Drotrecogin alfa(DB00055)	ACGCAGAGTGGCCTGCAGTCC	0.677													A	33762688	G	A	33762688	3	1	646	1	0	0	0	0	1	0	0	0	12633	1203	42	2	260	2	PROCR	20	33762688	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	24362151	33762688	29262832	40	52058											
ZNF831	128611	broad.mit.edu	37	chr20	57768516	57768516	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggcccagcaggggctcaggGgaggacaagctcccctcaga	9	4	15	13	0	2	1	2	0	0	1	3	3	3	3	3	6	2	3	3	6	1	0			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr20:57768516G>A	ENST00000371030.2	+	1	2442	c.2442G>A	c.(2440-2442)ggG>ggA	p.G814G		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	814						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GGGGCTCAGGGGAGGACAAGC	0.642													A	57768516	G	A	57768516	2	1	646	1	0	0	0	0	0	0	0	1	18284	1219	43	2		2	ZNF831	20	57768516	Silent	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08	24005828	57768516	5257004	41	52059											
DEPDC5	9681	broad.mit.edu	37	chr22	32266690	32266690	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgggaactcccagaacataGgagaacagggctactcctcc	12	7	10	12	0	0	2	0	0	0	2	3	4	3	3	3	3	4	1	3	3	5	3			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:32266690G>A	ENST00000400246.1	+	34	3587	c.3445G>A	c.(3445-3447)Gga>Aga	p.G1149R	DEPDC5_ENST00000400248.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000266091.3_Missense_Mutation_p.G1127R|DEPDC5_ENST00000382105.2_Missense_Mutation_p.G1071R|DEPDC5_ENST00000494060.1_3'UTR|DEPDC5_ENST00000400249.2_Missense_Mutation_p.G1118R|DEPDC5_ENST00000382111.2_Missense_Mutation_p.G1149R|DEPDC5_ENST00000382112.3_Missense_Mutation_p.G1140R|DEPDC5_ENST00000535622.1_Missense_Mutation_p.G1049R|DEPDC5_ENST00000539165.1_5'UTR			O75140	DEPD5_HUMAN	DEP domain containing 5	1118					intracellular signal transduction					breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(24)|ovary(5)|pancreas(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CCAGAACATAGGAGAACAGGG	0.532													A	32266690	G	A	32266690	3	1	646	1	0	0	0	0	1	0	0	0	4481	1001	35	2	3566	2	DEPDC5	22	32266690	Missense_Mutation	SNP	G	TCGA-P5-A72W-01A-11D-A32B-08		32266690	19037876	42	52060											
PICK1	9463	broad.mit.edu	37	chr22	38455269	38455269	+	Frame_Shift_Del	DEL	A	A	-																															cgactgtgcctgggaaggtgAccctgcagaaggatgctcag																										TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chr22:38455269delA	ENST00000404072.3	+	3	417	c.70delA	c.(70-72)accfs	p.T24fs	RP5-1039K5.13_ENST00000445483.1_RNA|PICK1_ENST00000468288.1_3'UTR|PICK1_ENST00000356976.3_Frame_Shift_Del_p.T24fs	NM_001039583.1|NM_001039584.1	NP_001034672.1|NP_001034673.1	Q9NRD5	PICK1_HUMAN	protein interacting with PRKCA 1	24	PDZ.				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|DNA methylation involved in embryo development|DNA methylation involved in gamete generation|monoamine transport|neuronal ion channel clustering|protein phosphorylation|receptor clustering|retrograde vesicle-mediated transport, Golgi to ER|synaptic transmission	cell junction|endocytic vesicle membrane|Golgi apparatus|perinuclear region of cytoplasm|presynaptic membrane	ATPase activity|metal ion binding|protein C-terminus binding|protein kinase C binding|receptor binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	Melanoma(58;0.045)					TGGGAAGGTGACCCTGCAGAA	0.567													-	38455269	A	-	38455269	7	5	646	1	0	1	0	1	0	0	0	0	11958	275	10	0	76	0	PICK1	22	38455269	Frame_Shift_Del	DEL	A	TCGA-P5-A72W-01A-11D-A32B-08	6188579	38455269	12849297	43	52061											
ATRX	546	broad.mit.edu	37	chrX	76890125	76890125	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccatacagtgggcaagaatgCatcctgaacctggagatttc	12	9	10	10	0	0	3	0	1	0	2	2	4	1	3	3	2	3	2	3	2	4	2			TCGA-P5-A72W-01A-11D-A32B-08	TCGA-P5-A72W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05432584-7c2a-4d75-8d0d-ead071120a4e	971c526c-a94b-4e27-a8c8-f009ef80fba4	g.chrX:76890125C>T	ENST00000373344.5	-	17	4983	c.4769G>A	c.(4768-4770)tGc>tAc	p.C1590Y	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.C1552Y	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1590	Helicase ATP-binding.				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)	GGCAAGAATGCATCCTGAACC	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76890125	C	T	76890125	3	4	646	1	0	0	0	0	1	0	0	0	1213	710	25	2	2785	2	ATRX	23	76890125	Missense_Mutation	SNP	C	TCGA-P5-A72W-01A-11D-A32B-08		76890125	78380435	44	52062											
RPTN	126638	broad.mit.edu	37	chr1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-																															cataatgatagctctggcctTgtctgtctgtctgaccgtag																										TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					proteinaceous extracellular matrix	calcium ion binding			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485													-	152127884	TGTC	-	152127881	7	5	647	1	0	1	0	1	0	0	0	0	13755	1812	63	0	664	0	RPTN	1	152127881	Frame_Shift_Del	DEL	TGTC	TCGA-P5-A72X-01A-11D-A32B-08		152127881	97122740	1	52063											
HHIPL2	79802	broad.mit.edu	37	chr1	222717332	222717332	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaatagtccttgtcaggaAggtccaggaggtggcagaag	12	7	15	7	0	1	1	1	0	0	1	3	3	3	3	2	5	1	2	2	5	4	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:222717332A>T	ENST00000343410.6	-	2	579	c.521T>A	c.(520-522)cTt>cAt	p.L174H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	174					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CTTGTCAGGAAGGTCCAGGAG	0.577													T	222717332	A	T	222717332	3	4	647	1	0	0	0	0	1	0	0	0	7149	72	3	5	1685	5	HHIPL2	1	222717332	Missense_Mutation	SNP	A	TCGA-P5-A72X-01A-11D-A32B-08	70589451	222717332	26533289	2	52064											
NUP133	55746	broad.mit.edu	37	chr1	229593964	229593964	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgaagctaatgcagccaatTtactcaagccaagaagggtt	14	9	9	9	0	1	2	1	1	0	1	1	2	1	2	2	1	5	3	2	1	7	4			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr1:229593964T>C	ENST00000261396.3	-	21	3015	c.2924A>G	c.(2923-2925)aAa>aGa	p.K975R	NUP133_ENST00000537506.1_Missense_Mutation_p.K959R	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	975					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA export from nucleus|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex	nucleocytoplasmic transporter activity|protein binding			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				TGCAGCCAATTTACTCAAGCC	0.368													C	229593964	T	C	229593964	3	2	647	1	0	0	0	0	1	0	0	0	10830	1841	64	3	570	3	NUP133	1	229593964	Missense_Mutation	SNP	T	TCGA-P5-A72X-01A-11D-A32B-08	6876632	229593964	19656657	3	52065											
ETAA1	54465	broad.mit.edu	37	chr2	67631709	67631709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattagaaaggacagtaagaCatcagaaagtatatgtgaga	19	8	10	4	0	1	4	1	1	0	4	1	6	1	5	0	1	0	2	0	1	6	4			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr2:67631709C>T	ENST00000272342.5	+	5	2025	c.1895C>T	c.(1894-1896)aCa>aTa	p.T632I	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	632						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						GACAGTAAGACATCAGAAAGT	0.363													T	67631709	C	T	67631709	3	4	647	1	0	0	0	0	1	0	0	0	5308	478	17	2	1913	2	ETAA1	2	67631709	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		67631709	175567664	4	52066											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	647	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08	141481403	209113112	34086261	5	52067											
HYAL1	3373	broad.mit.edu	37	chr3	50339946	50339946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcccgtgagcgctgccGgtaaatgtccttggtgtccc	5	10	13	13	3	0	1	0	1	0	0	2	1	2	1	4	2	3	2	4	2	2	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:50339946G>A	ENST00000266031.4	-	1	1057	c.442C>T	c.(442-444)Cgg>Tgg	p.R148W	HYAL1_ENST00000395144.2_Missense_Mutation_p.R148W|HYAL1_ENST00000447605.2_Intron|HYAL1_ENST00000457214.2_5'UTR|HYAL1_ENST00000395143.2_Missense_Mutation_p.R148W|HYAL1_ENST00000320295.8_Missense_Mutation_p.R148W			Q12794	HYAL1_HUMAN	hyaluronoglucosaminidase 1	148						extracellular space|lysosome	hyalurononglucosaminidase activity			cervix(1)|endometrium(2)|large_intestine(1)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	Hyaluronidase(DB00070)	GAGCGCTGCCGGTAAATGTCC	0.642													A	50339946	G	A	50339946	3	1	647	1	0	0	0	0	1	0	0	0	7521	1115	39	1	877	1	HYAL1	3	50339946	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		50339946	147682484	6	52068											
DNAH1	25981	broad.mit.edu	37	chr3	52426901	52426901	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcgacctgacgcgcatggAgtacatacccgtggccatcc	9	7	10	15	4	0	1	0	1	0	0	2	3	1	2	4	2	2	2	4	2	2	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr3:52426901A>G	ENST00000420323.2	+	65	10595	c.10334A>G	c.(10333-10335)gAg>gGg	p.E3445G		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3510	AAA 5 (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)		ACGCGCATGGAGTACATACCC	0.577													G	52426901	A	G	52426901	3	3	647	1	0	0	0	0	1	0	0	0	4636	304	11	3	10588	3	DNAH1	3	52426901	Missense_Mutation	SNP	A	TCGA-P5-A72X-01A-11D-A32B-08	2086955	52426901	145595529	7	52069											
LNX1	84708	broad.mit.edu	37	chr4	54364953	54364953	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcactgggatctactcgaTtgatcttgatgctggtaatt	8	17	9	7	1	3	2	1	2	2	0	4	4	3	3	0	2	2	2	0	2	2	6			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr4:54364953T>C	ENST00000306888.2	-	4	796	c.545A>G	c.(544-546)aAt>aGt	p.N182S	LNX1-AS1_ENST00000502373.1_RNA|FIP1L1_ENST00000507166.1_Intron|LNX1_ENST00000263925.7_Missense_Mutation_p.N278S	NM_032622.2	NP_116011.2	Q8TBB1	LNX1_HUMAN	ligand of numb-protein X 1, E3 ubiquitin protein ligase	278						cytoplasm	zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|endometrium(3)|large_intestine(11)|lung(6)|ovary(3)|urinary_tract(4)	32	all_neural(26;0.153)		GBM - Glioblastoma multiforme(3;8.2e-46)|LUSC - Lung squamous cell carcinoma(32;0.0134)			ATCTACTCGATTGATCTTGAT	0.448													C	54364953	T	C	54364953	3	2	647	1	0	0	0	0	1	0	0	0	8926	1493	52	3	1381	3	LNX1	4	54364953	Missense_Mutation	SNP	T	TCGA-P5-A72X-01A-11D-A32B-08		54364953	136789323	8	52070											
HAS2	3037	broad.mit.edu	37	chr8	122626810	122626810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgttccaaattttaccccGgtagaagagctggattactg	12	12	9	8	1	0	2	0	0	0	2	1	3	1	3	3	2	3	3	3	2	6	5	rs148429340	by1000genomes	TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr8:122626810G>A	ENST00000303924.4	-	4	1735	c.1198C>T	c.(1198-1200)Cgg>Tgg	p.R400W		NM_005328.2	NP_005319.1	Q92819	HAS2_HUMAN	hyaluronan synthase 2	400						integral to plasma membrane	hyaluronan synthase activity		HAS2/PLAG1(10)	breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(19)|ovary(5)|skin(1)	38	Lung NSC(37;3.12e-08)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)|all_neural(195;0.142)		STAD - Stomach adenocarcinoma(47;0.00503)			ATTTTACCCCGGTAGAAGAGC	0.408													A	122626810	G	A	122626810	3	1	647	1	0	0	0	0	1	0	0	0	7017	1115	39	1	464	1	HAS2	8	122626810	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		122626810	23737212	9	52071											
TNC	3371	broad.mit.edu	37	chr9	117822018	117822018	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggaagtacctgtggaggCctcagcagagagtactggtg	11	7	16	7	0	1	2	1	0	0	2	1	5	1	4	2	4	3	3	2	4	3	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr9:117822018C>G	ENST00000350763.4	-	14	4708	c.4297G>C	c.(4297-4299)Gcc>Ccc	p.A1433P	TNC_ENST00000341037.4_Missense_Mutation_p.A1342P|TNC_ENST00000345230.3_Intron|TNC_ENST00000423613.2_Missense_Mutation_p.A1433P|TNC_ENST00000346706.3_Intron|TNC_ENST00000535648.1_Intron|TNC_ENST00000542877.1_Intron|TNC_ENST00000537320.1_Intron|TNC_ENST00000340094.3_Intron	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	1433	Fibronectin type-III 9.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						CCTGTGGAGGCCTCAGCAGAG	0.552													G	117822018	C	G	117822018	3	3	647	1	0	0	0	0	1	0	0	0	16370	739	26	4	2368	4	TNC	9	117822018	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		117822018	23391413	10	52072											
CWF19L2	143884	broad.mit.edu	37	chr11	107312278	107312278	+	Frame_Shift_Del	DEL	T	T	-																															ctattttcctcatagtttccTtttcagctttgagtgatgat																										TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr11:107312278delT	ENST00000282251.5	-	5	548	c.521delA	c.(520-522)aagfs	p.K174fs	CWF19L2_ENST00000433523.1_Frame_Shift_Del_p.K174fs	NM_152434.2	NP_689647.2	Q2TBE0	C19L2_HUMAN	CWF19-like 2, cell cycle control (S. pombe)	174							catalytic activity			endometrium(4)|kidney(2)|large_intestine(13)|lung(21)	40		Melanoma(852;1.75e-05)|all_epithelial(67;6.27e-05)|Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Breast(348;0.0258)		Epithelial(105;7.18e-06)|BRCA - Breast invasive adenocarcinoma(274;1.65e-05)|all cancers(92;1.76e-05)		CATAGTTTCCTTTTCAGCTTT	0.318													-	107312278	T	-	107312278	7	5	647	1	0	1	0	1	0	0	0	0	4105	1609	56	0	2219	0	CWF19L2	11	107312278	Frame_Shift_Del	DEL	T	TCGA-P5-A72X-01A-11D-A32B-08		107312278	27694238	11	52073											
TSC22D1	8848	broad.mit.edu	37	chr13	45148706	45148708	+	In_Frame_Del	DEL	TGC	TGC	-																															gttgctgttgttgttgttgtTgctgctgctgctgctgcacc																								rs112613609		TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr13:45148706_45148708delTGC	ENST00000458659.2	-	1	1993_1995	c.1503_1505delGCA	c.(1501-1506)cagcaa>caa	p.501_502QQ>Q	TSC22D1_ENST00000501704.2_In_Frame_Del_p.501_502QQ>Q	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	501	Gln-rich.				transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		ttgttgttgttgctgctgctgct	0.507													-	45148708	TGC	-	45148706	7	5	647	1	0	1	0	1	0	0	0	0	16708	1812	63	0	1857	0	TSC22D1	13	45148706	In_Frame_Del	DEL	TGC	TCGA-P5-A72X-01A-11D-A32B-08		45148706	70021172	12	52074											
SMTNL2	342527	broad.mit.edu	37	chr17	4510712	4510712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggacatgatggtgatgggccGcaagccggaccccatgtgtg	8	7	16	10	2	0	2	0	2	0	0	0	4	0	4	4	4	1	1	4	4	1	0			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:4510712G>A	ENST00000389313.4	+	8	1383	c.1316G>A	c.(1315-1317)cGc>cAc	p.R439H	SMTNL2_ENST00000338859.4_Missense_Mutation_p.R295H	NM_001114974.1	NP_001108446.1	Q2TAL5	SMTL2_HUMAN	smoothelin-like 2	439	CH.									breast(1)|endometrium(9)|kidney(1)|lung(1)|skin(1)	13				READ - Rectum adenocarcinoma(115;0.0325)		GTGATGGGCCGCAAGCCGGAC	0.582													A	4510712	G	A	4510712	3	1	647	1	0	0	0	0	1	0	0	0	14910	1087	38	1	1346	1	SMTNL2	17	4510712	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		4510712	76684498	13	52075											
TP53	7157	broad.mit.edu	37	chr17	7578280	7578280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcggataagatgctgaggaGgggccagacctaagagcaat	13	6	14	8	1	0	4	0	1	0	3	1	6	0	6	2	4	2	2	2	4	3	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:7578280G>A	ENST00000420246.2	-	6	701	c.569C>T	c.(568-570)cCt>cTt	p.P190L	TP53_ENST00000269305.4_Missense_Mutation_p.P190L|TP53_ENST00000413465.2_Missense_Mutation_p.P190L|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.P190L|TP53_ENST00000445888.2_Missense_Mutation_p.P190L|TP53_ENST00000455263.2_Missense_Mutation_p.P190L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	190	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in a sporadic cancer; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P190L(21)|p.0?(8)|p.?(7)|p.P190fs*57(6)|p.P190del(6)|p.A189_V197delAPPQHLIRV(4)|p.P190R(2)|p.G187fs*16(2)|p.P190F(2)|p.D186_P191delDGLAPP(1)|p.P190H(1)|p.P58fs*>33(1)|p.P191fs*18(1)|p.A189_Q192>E(1)|p.L188_P191del(1)|p.A189_P190>X(1)|p.P97fs*57(1)|p.A189fs*53(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)		ATGCTGAGGAGGGGCCAGACC	0.552		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)			A	7578280	G	A	7578280	3	1	647	1	0	0	0	0	1	0	0	0	16482	1000	35	2	725	2	TP53	17	7578280	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	3067568	7578280	73616930	14	52076											
MYOCD	93649	broad.mit.edu	37	chr17	12626238	12626238	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gactcgccgatgatctcaatGaaaaaattgctctacgacca	14	9	7	11	3	2	2	1	2	2	0	4	5	2	2	2	0	2	1	2	0	5	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr17:12626238G>A	ENST00000425538.1	+	5	528	c.328G>A	c.(328-330)Gaa>Aaa	p.E110K	MYOCD_ENST00000395988.1_3'UTR|MYOCD_ENST00000343344.4_Missense_Mutation_p.E110K|AC005358.1_ENST00000609971.1_Missense_Mutation_p.E14K	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN	myocardin	110					cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		TGATCTCAATGAAAAAATTGC	0.453													A	12626238	G	A	12626238	3	1	647	1	0	0	0	0	1	0	0	0	10163	1291	45	2	346	2	MYOCD	17	12626238	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	5047958	12626238	68568972	15	52077											
PKN1	5585	broad.mit.edu	37	chr19	14581115	14581115	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctacgagatgctggttggcGaggtgagaccccgcccctgt	6	9	14	12	3	1	2	0	1	1	2	1	5	1	2	4	3	2	2	4	3	1	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:14581115G>A	ENST00000242783.6	+	19	2599	c.2434G>A	c.(2434-2436)Gag>Aag	p.E812K	PKN1_ENST00000342216.4_Missense_Mutation_p.E818K	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	812	Protein kinase.			E -> G (in Ref. 3; BAG36611).	activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding			breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						GCTGGTTGGCGAGGTGAGACC	0.627													A	14581115	G	A	14581115	3	1	647	1	0	0	0	0	1	0	0	0	12056	1059	37	1	2551	1	PKN1	19	14581115	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08		14581115	44547868	16	52078											
CCDC9	26093	broad.mit.edu	37	chr19	47764023	47764023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagctgggggccgtggccGgaggggccggggccgaggtt	4	4	24	9	4	0	0	0	0	0	0	0	3	0	2	4	10	1	2	4	10	0	1			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr19:47764023G>A	ENST00000221922.6	+	5	611	c.389G>A	c.(388-390)cGg>cAg	p.R130Q		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	130	Gly-rich.									endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GGCCGTGGCCGGAGGGGCCGG	0.706													A	47764023	G	A	47764023	3	1	647	1	0	0	0	0	1	0	0	0	2895	1116	39	1	403	1	CCDC9	19	47764023	Missense_Mutation	SNP	G	TCGA-P5-A72X-01A-11D-A32B-08	33182908	47764023	11364960	17	52079											
CSTF1	1477	broad.mit.edu	37	chr20	54972798	54972798	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcacgtgccttgctttccaCccaacagaacagatcctggc	9	9	8	15	1	1	2	1	0	0	2	3	2	3	2	4	1	4	1	4	1	2	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chr20:54972798C>G	ENST00000217109.4	+	4	898	c.546C>G	c.(544-546)caC>caG	p.H182Q	CSTF1_ENST00000493039.1_3'UTR	NM_001033521.1|NM_001324.2	NP_001028693.1|NP_001315.1	Q05048	CSTF1_HUMAN	cleavage stimulation factor, 3' pre-RNA, subunit 1, 50kDa	182					mRNA cleavage|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	nucleoplasm	protein binding|RNA binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	15			Colorectal(105;0.202)			TTGCTTTCCACCCAACAGAAC	0.408													G	54972798	C	G	54972798	3	3	647	1	0	0	0	0	1	0	0	0	4016	506	18	4	556	4	CSTF1	20	54972798	Missense_Mutation	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		54972798	8052722	18	52080											
VSIG4	11326	broad.mit.edu	37	chrX	65252309	65252309	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggaaagagggccgctcaCctttgaccacaaacttcaca	13	6	8	14	1	2	2	2	1	0	1	2	3	2	3	4	2	1	1	4	2	2	2			TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:65252309C>A	ENST00000455586.2	-	3	821		c.e3+1		VSIG4_ENST00000374737.4_Splice_Site|VSIG4_ENST00000412866.2_Intron	NM_001184830.1	NP_001171759.1	Q9Y279	VSIG4_HUMAN	V-set and immunoglobulin domain containing 4						complement activation, alternative pathway	integral to membrane	protein binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GGGCCGCTCACCTTTGACCAC	0.507													A	65252309	C	A	65252309	5	1	647	1	0	0	0	0	0	0	1	0	17327	521	18	4	532	4	VSIG4	23	65252309	Splice_Site	SNP	C	TCGA-P5-A72X-01A-11D-A32B-08		65252309	90018251	19	52081											
ATRX	546	broad.mit.edu	37	chrX	76855036	76855037	+	Frame_Shift_Del	DEL	CT	CT	-																															atcttttttcccctttttccCttttttcttctttctaaaaa																										TCGA-P5-A72X-01A-11D-A32B-08	TCGA-P5-A72X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	37801feb-014d-4baa-a5cd-1cc187d81523	fda2c63f-c629-47fb-b946-aa44624024be	g.chrX:76855036_76855037delCT	ENST00000373344.5	-	25	6013_6014	c.5799_5800delAG	c.(5797-5802)aaagggfs	p.G1934fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.G1896fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1934	Poly-Lys.				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)	CCCTTTTTCCCTTTTTTCTTCT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76855037	CT	-	76855036	7	5	647	1	0	1	0	1	0	0	0	0	1213	681	24	0	1722	0	ATRX	23	76855036	Frame_Shift_Del	DEL	CT	TCGA-P5-A72X-01A-11D-A32B-08	11602727	76855036	78415524	20	52082											
LCE3E	353145	broad.mit.edu	37	chr1	152538494	152538494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagttggacctctggcgcCggcatcggtggtggcgcctg	4	8	18	11	4	1	0	0	0	1	0	2	2	1	2	3	7	0	2	3	7	0	1	rs143470301		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:152538494C>T	ENST00000368789.1	-	2	246	c.191G>A	c.(190-192)cGg>cAg	p.R64Q		NM_178435.2	NP_848522.1	Q5T5B0	LCE3E_HUMAN	late cornified envelope 3E	64					keratinization					lung(6)|ovary(1)	7	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		Lung(1;0.000294)|LUAD - Lung adenocarcinoma(1;0.00527)|LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)		CCTCTGGCGCCGGCATCGGTG	0.677													T	152538494	C	T	152538494	3	4	648	1	0	0	0	0	1	0	0	0	8732	652	23	1	91	1	LCE3E	1	152538494	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		152538494	96712127	1	52083											
KDM5B	10765	broad.mit.edu	37	chr1	202718147	202718147	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtctttctgaacagttgaagCcactacaacatctaatacat	14	12	5	10	0	3	2	0	2	3	0	3	2	3	2	1	0	5	1	1	0	6	5			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr1:202718147C>T	ENST00000367265.3	-	14	3106	c.1942G>A	c.(1942-1944)Gct>Act	p.A648T	KDM5B_ENST00000367264.2_Missense_Mutation_p.A684T	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	648					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						ACAGTTGAAGCCACTACAACA	0.413													T	202718147	C	T	202718147	3	4	648	1	0	0	0	0	1	0	0	0	8192	739	26	2	2748	2	KDM5B	1	202718147	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	50179653	202718147	46532474	2	52084											
PPM1B	5495	broad.mit.edu	37	chr2	44428625	44428625	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaggatctgctcttgAgctttcagtggaaaatgtta	13	13	9	6	0	4	1	2	1	2	0	4	3	4	3	0	2	2	3	0	2	5	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:44428625A>T	ENST00000378551.2	+	2	699	c.287A>T	c.(286-288)gAg>gTg	p.E96V	PPM1B_ENST00000345249.4_Intron|PPM1B_ENST00000409432.3_Missense_Mutation_p.E96V|PPM1B_ENST00000282412.4_Missense_Mutation_p.E96V|PPM1B_ENST00000409895.4_Missense_Mutation_p.E96V|PPM1B_ENST00000378540.4_3'UTR	NM_177968.2	NP_808907.1	O75688	PPM1B_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1B	96					protein dephosphorylation	protein serine/threonine phosphatase complex	magnesium ion binding|manganese ion binding|protein binding|protein serine/threonine phosphatase activity			kidney(4)|large_intestine(3)|lung(7)|skin(2)	16		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)				TCTGCTCTTGAGCTTTCAGTG	0.408													T	44428625	A	T	44428625	3	4	648	1	0	0	0	0	1	0	0	0	12418	304	11	5	289	5	PPM1B	2	44428625	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08		44428625	198770748	3	52085											
LCT	3938	broad.mit.edu	37	chr2	136566252	136566252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtcttcgtaggagggtgggTttagcctgggtgttttgtgc	3	15	17	6	2	1	0	0	0	1	0	2	1	1	1	1	4	2	3	1	4	2	6			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:136566252T>C	ENST00000264162.2	-	8	3675	c.3665A>G	c.(3664-3666)aAc>aGc	p.N1222S		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1222	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GGAGGGTGGGTTTAGCCTGGG	0.587													C	136566252	T	C	136566252	3	2	648	1	0	0	0	0	1	0	0	0	8752	1725	60	3	2158	3	LCT	2	136566252	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08	92137627	136566252	106633121	4	52086											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	648	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	72546860	209113112	34086261	5	52087											
PIKFYVE	200576	broad.mit.edu	37	chr2	209190050	209190050	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagcacctaggctgtacaAtcaagctaagaggaggctct	13	7	10	11	0	2	1	1	0	1	1	2	2	2	2	1	3	3	5	1	3	5	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr2:209190050A>G	ENST00000264380.4	+	20	2673	c.2515A>G	c.(2515-2517)Atc>Gtc	p.I839V		NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	839					cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						AGGCTGTACAATCAAGCTAAG	0.393													G	209190050	A	G	209190050	3	3	648	1	0	0	0	0	1	0	0	0	12001	101	4	3	2600	3	PIKFYVE	2	209190050	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	76938	209190050	34009323	6	52088											
GLB1	2720	broad.mit.edu	37	chr3	33109728	33109728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtaacaacctacctgggtCggaggagcggagaagaatag	13	6	14	8	2	0	2	0	0	0	2	1	5	0	4	2	4	4	1	2	4	6	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr3:33109728C>T	ENST00000307363.5	-	4	595	c.451G>A	c.(451-453)Gac>Aac	p.D151N	GLB1_ENST00000399402.3_Missense_Mutation_p.D121N|GLB1_ENST00000445488.2_Missense_Mutation_p.D199N|GLB1_ENST00000307377.8_Intron	NM_000404.2	NP_000395	P16278	BGAL_HUMAN	galactosidase, beta 1	151			D -> V (in GM1G1).|D -> Y (in GM1G1; complete lack of protein; no enzymatic activity).		carbohydrate metabolic process	lysosome|perinuclear region of cytoplasm	beta-galactosidase activity|cation binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	21		Melanoma(143;0.104)				CTACCTGGGTCGGAGGAGCGG	0.488													T	33109728	C	T	33109728	3	4	648	1	0	0	0	0	1	0	0	0	6483	884	31	1	1634	1	GLB1	3	33109728	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		33109728	164912702	7	52089											
ARFIP1	27236	broad.mit.edu	37	chr4	153791963	153791963	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagggttgcagctagtcgActggctcagcaaggaagtga	11	7	15	8	1	1	1	1	1	0	0	2	3	1	2	0	3	4	6	0	3	3	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr4:153791963A>G	ENST00000451320.2	+	4	425	c.261A>G	c.(259-261)cgA>cgG	p.R87R	ARFIP1_ENST00000405727.2_Intron|ARFIP1_ENST00000511289.1_3'UTR|ARFIP1_ENST00000353617.2_Silent_p.R87R|ARFIP1_ENST00000356064.3_Intron|ARFIP1_ENST00000429148.2_Intron			P53367	ARFP1_HUMAN	ADP-ribosylation factor interacting protein 1	87					intracellular protein transport|regulation of protein secretion	cytosol|Golgi membrane			ARFIP1/FHDC1(2)	cervix(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|urinary_tract(1)	14	all_hematologic(180;0.093)					CAGCTAGTCGACTGGCTCAGC	0.448													G	153791963	A	G	153791963	2	3	648	1	0	0	0	0	0	0	0	1	857	262	10	3		3	ARFIP1	4	153791963	Silent	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08		153791963	37362313	8	52090											
NIPBL	25836	broad.mit.edu	37	chr5	37001134	37001135	+	Frame_Shift_Del	DEL	AG	AG	-																															aagagattcacagcctcaatAgagaatattttggataattt																										TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr5:37001134_37001135delAG	ENST00000282516.8	+	14	4117_4118	c.3618_3619delAG	c.(3616-3621)atagagfs	p.E1207fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.E1207fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1207					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CAGCCTCAATAGAGAATATTTT	0.307													-	37001135	AG	-	37001134	7	5	648	1	0	1	0	1	0	0	0	0	10504	410	15	0	3668	0	NIPBL	5	37001134	Frame_Shift_Del	DEL	AG	TCGA-P5-A72Z-01A-11D-A32B-08		37001134	143914126	9	52091											
TAP1	6890	broad.mit.edu	37	chr6	32821013	32821013	+	Frame_Shift_Del	DEL	C	C	-																															cgaaggcggtagggtgacttCcccagtgcagtagcctggtg																										TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:32821013delC	ENST00000354258.4	-	1	742	c.581delG	c.(580-582)ggafs	p.G194fs	PSMB9_ENST00000395330.1_Intron	NM_000593.5	NP_000584.2	Q03518	TAP1_HUMAN	transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)	194					antigen processing and presentation of endogenous peptide antigen via MHC class I|cytosol to ER transport|intracellular transport of viral proteins in host cell|positive regulation of T cell mediated cytotoxicity	cytosol|plasma membrane|TAP complex	ADP binding|ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(4)|prostate(1)|skin(1)	21						AGGGTGACTTCCCCAGTGCAG	0.672													-	32821013	C	-	32821013	7	5	648	1	0	1	0	1	0	0	0	0	15647	855	30	0	1889	0	TAP1	6	32821013	Frame_Shift_Del	DEL	C	TCGA-P5-A72Z-01A-11D-A32B-08		32821013	138294054	10	52092											
HMGCLL1	54511	broad.mit.edu	37	chr6	55360227	55360227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaaaatacctgaagggccGtaaggatatttgctaaggct	14	10	10	7	1	0	1	0	1	0	0	0	2	0	2	2	3	3	3	2	3	8	6			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:55360227G>A	ENST00000398661.2	-	8	1006	c.875C>T	c.(874-876)aCg>aTg	p.T292M	HMGCLL1_ENST00000508459.1_Intron|HMGCLL1_ENST00000308161.4_Missense_Mutation_p.T230M|HMGCLL1_ENST00000370850.2_Missense_Mutation_p.T159M|HMGCLL1_ENST00000274901.4_Missense_Mutation_p.T262M	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	292							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			CTGAAGGGCCGTAAGGATATT	0.383													A	55360227	G	A	55360227	3	1	648	1	0	0	0	0	1	0	0	0	7285	1145	40	1	249	1	HMGCLL1	6	55360227	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	22539214	55360227	115754840	11	52093											
DST	667	broad.mit.edu	37	chr6	56374648	56374648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcgttccaggctctcaagGatctgatctatcttgtcatg	8	14	9	10	1	5	1	2	1	4	0	7	2	6	2	1	2	1	2	1	2	2	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:56374648G>A	ENST00000370754.5	-	74	18710	c.18711C>T	c.(18709-18711)atC>atT	p.I6237I	DST_ENST00000361203.3_Silent_p.I5948I|DST_ENST00000340834.4_5'UTR|DST_ENST00000312431.6_3'UTR|DST_ENST00000421834.2_Silent_p.I3971I|DST_ENST00000244364.6_Silent_p.I3645I|DST_ENST00000370769.4_Silent_p.I6059I|DST_ENST00000446842.2_Silent_p.I5733I|DST_ENST00000370788.2_Silent_p.I3862I			Q03001	DYST_HUMAN	dystonin	6057					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			GGCTCTCAAGGATCTGATCTA	0.398													A	56374648	G	A	56374648	2	1	648	1	0	0	0	0	0	0	0	1	4822	1164	41	2		2	DST	6	56374648	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	1014421	56374648	114740419	12	52094											
SYNE1	23345	broad.mit.edu	37	chr6	152647526	152647526	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttctaggtcttctttgccGgttggcttgatgagtgggtc	3	17	14	7	1	3	2	0	2	3	0	4	2	3	2	1	4	1	3	1	4	1	6			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr6:152647526G>A	ENST00000367255.5	-	79	15799	c.15198C>T	c.(15196-15198)acC>acT	p.T5066T	SYNE1_ENST00000341594.5_Silent_p.T4813T|SYNE1_ENST00000448038.1_Silent_p.T4995T|SYNE1_ENST00000265368.4_Silent_p.T5066T|SYNE1_ENST00000423061.1_Silent_p.T4995T	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5066					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)		CTTCTTTGCCGGTTGGCTTGA	0.522										HNSCC(10;0.0054)			A	152647526	G	A	152647526	2	1	648	1	0	0	0	0	0	0	0	1	15542	1103	39	1		1	SYNE1	6	152647526	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	96272878	152647526	18467541	13	52095											
KCND2	3751	broad.mit.edu	37	chr7	119914946	119914946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcagtatttctttgaccGtgacccagacatcttccgcc	8	12	7	14	2	3	3	1	2	2	1	4	3	4	3	4	0	1	2	4	0	1	4			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:119914946G>A	ENST00000331113.4	+	1	1225	c.260G>A	c.(259-261)cGt>cAt	p.R87H		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	87	Interaction with KCNIP1 (By similarity).				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					TTCTTTGACCGTGACCCAGAC	0.527													A	119914946	G	A	119914946	3	1	648	1	0	0	0	0	1	0	0	0	8077	1145	40	1	262	1	KCND2	7	119914946	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		119914946	39223717	14	52096											
OR2A5	393046	broad.mit.edu	37	chr7	143748007	143748007	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggctgcccttctgtgggccCcatgaaatcaaccacttctt	8	11	8	14	0	3	1	1	1	2	0	3	1	3	1	4	2	2	1	4	2	2	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143748007C>T	ENST00000408906.2	+	1	547	c.513C>T	c.(511-513)ccC>ccT	p.P171P		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	171					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					TCTGTGGGCCCCATGAAATCA	0.552													T	143748007	C	T	143748007	2	4	648	1	0	0	0	0	0	0	0	1	11057	610	22	2		2	OR2A5	7	143748007	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	23833061	143748007	15390656	15	52097											
OR2A14	135941	broad.mit.edu	37	chr7	143826709	143826709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcctgagcctgcccttctgCgggcctcatgaaatcaacca	9	9	8	15	1	3	2	2	2	1	0	4	2	4	2	5	1	4	0	5	1	2	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr7:143826709C>T	ENST00000408899.2	+	1	559	c.504C>T	c.(502-504)tgC>tgT	p.C168C		NM_001001659.1	NP_001001659.1	Q96R47	O2A14_HUMAN	olfactory receptor, family 2, subfamily A, member 14	168					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(17)|skin(1)	22	Melanoma(164;0.0783)					TGCCCTTCTGCGGGCCTCATG	0.552													T	143826709	C	T	143826709	2	4	648	1	0	0	0	0	0	0	0	1	11052	776	27	1		1	OR2A14	7	143826709	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	78702	143826709	15311954	16	52098											
JPH1	56704	broad.mit.edu	37	chr8	75227343	75227343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacttcatgccattggagcGctcgctaacgccgaagccgt	9	9	10	13	5	1	0	1	0	0	0	2	2	1	1	3	1	5	2	3	1	3	4			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr8:75227343G>A	ENST00000342232.4	-	2	932	c.892C>T	c.(892-894)Cgc>Tgc	p.R298C		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	298					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			CCATTGGAGCGCTCGCTAACG	0.537													A	75227343	G	A	75227343	3	1	648	1	0	0	0	0	1	0	0	0	8018	1087	38	1	1109	1	JPH1	8	75227343	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		75227343	71136679	17	52099											
PTPRD	5789	broad.mit.edu	37	chr9	8521487	8521487	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgatattaacgcttcCgcctggcatgatttcatgat	10	13	9	9	2	1	3	1	3	0	0	2	3	2	3	2	2	1	2	2	2	2	4			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr9:8521487C>T	ENST00000381196.4	-	17	1294	c.751G>A	c.(751-753)Gga>Aga	p.G251R	PTPRD_ENST00000486161.1_Missense_Mutation_p.G251R|PTPRD_ENST00000540109.1_Missense_Mutation_p.G251R|PTPRD_ENST00000397617.3_Missense_Mutation_p.G241R|PTPRD_ENST00000355233.5_Missense_Mutation_p.G251R|PTPRD_ENST00000397611.3_Missense_Mutation_p.G248R|PTPRD_ENST00000537002.1_Missense_Mutation_p.G248R|PTPRD_ENST00000356435.5_Missense_Mutation_p.G251R|PTPRD_ENST00000360074.4_Missense_Mutation_p.G238R|PTPRD_ENST00000397606.3_Missense_Mutation_p.G241R|PTPRD_ENST00000358503.5_Missense_Mutation_p.G238R	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	251	Ig-like C2-type 3.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTAACGCTTCCGCCTGGCATG	0.468										TSP Lung(15;0.13)			T	8521487	C	T	8521487	3	4	648	1	0	0	0	0	1	0	0	0	12887	661	23	1	5163	1	PTPRD	9	8521487	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08		8521487	132691944	18	52100											
DIP2C	22982	broad.mit.edu	37	chr10	518418	518418	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtgaccctgaagaccgtcGgcggtggtagcgagaggcgg	7	6	18	10	6	0	4	0	2	0	2	2	5	0	4	2	5	1	1	2	5	2	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:518418G>A	ENST00000280886.6	-	3	316	c.229C>T	c.(229-231)Cga>Tga	p.R77*	DIP2C_ENST00000381496.3_5'UTR	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	77						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		GAAGACCGTCGGCGGTGGTAG	0.592													A	518418	G	A	518418	4	1	648	1	0	0	0	0	0	1	0	0	4568	1124	39	1	4581	1	DIP2C	10	518418	Nonsense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		518418	135016329	19	52101											
CHAT	1103	broad.mit.edu	37	chr10	50833584	50833584	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccctttgcatgaagcaatActatgggctcttctcctcct	7	13	7	14	0	2	1	0	1	2	0	4	1	3	1	4	1	3	3	4	1	4	4			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr10:50833584A>C	ENST00000395562.2	+	7	1041	c.572A>C	c.(571-573)tAc>tCc	p.Y191S	CHAT_ENST00000395559.2_Missense_Mutation_p.Y155S|CHAT_ENST00000351556.3_Missense_Mutation_p.Y155S|CHAT_ENST00000455728.2_Missense_Mutation_p.Y155S|CHAT_ENST00000339797.1_Missense_Mutation_p.Y155S|CHAT_ENST00000337653.2_Missense_Mutation_p.Y273S	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	273					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	ATGAAGCAATACTATGGGCTC	0.602													C	50833584	A	C	50833584	3	2	648	1	0	0	0	0	1	0	0	0	3343	391	14	5	884	5	CHAT	10	50833584	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	50315166	50833584	84701163	20	52102											
OR51I2	390064	broad.mit.edu	37	chr11	5475052	5475052	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttcttctccatgatggaaTcaggtattctgctggccatg	8	14	9	10	0	4	1	1	1	3	0	5	2	4	2	2	3	1	2	2	3	2	4			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:5475052T>C	ENST00000341449.2	+	1	415	c.334T>C	c.(334-336)Tca>Cca	p.S112P	HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|AC104389.28_ENST00000415970.1_RNA	NM_001004754.2	NP_001004754.1	Q9H344	O51I2_HUMAN	olfactory receptor, family 51, subfamily I, member 2	112					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.09e-10)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CATGATGGAATCAGGTATTCT	0.483													C	5475052	T	C	5475052	3	2	648	1	0	0	0	0	1	0	0	0	11177	1435	50	3	336	3	OR51I2	11	5475052	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08		5475052	129531464	21	52103											
C11orf16	56673	broad.mit.edu	37	chr11	8943016	8943016	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgcagtttgtgctctctgCtgtttgtgatccttttcttc	3	20	8	10	0	2	1	0	1	2	0	5	1	3	1	1	0	3	5	1	0	0	5			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:8943016C>T	ENST00000326053.5	-	6	1357	c.1251G>A	c.(1249-1251)caG>caA	p.Q417Q	C11orf16_ENST00000525780.1_Intron	NM_020643.2	NP_065694.2	Q9NQ32	CK016_HUMAN	chromosome 11 open reading frame 16	417										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	22				Epithelial(150;4.11e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0234)		GTGCTCTCTGCTGTTTGTGAT	0.473													T	8943016	C	T	8943016	2	4	648	1	0	0	0	0	0	0	0	1	1642	796	28	2		2	C11orf16	11	8943016	Silent	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	3467964	8943016	126063500	22	52104											
PPP2R5B	5526	broad.mit.edu	37	chr11	64694345	64694345	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggagcacccggggtgtcCtcatcgagcccgtctaccca	6	7	13	15	3	2	0	1	0	1	0	4	2	3	1	4	4	3	1	4	4	1	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:64694345C>A	ENST00000164133.2	+	3	983	c.361C>A	c.(361-363)Ctc>Atc	p.L121I		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	121					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						CCGGGGTGTCCTCATCGAGCC	0.652													A	64694345	C	A	64694345	3	1	648	1	0	0	0	0	1	0	0	0	12475	681	24	4	367	4	PPP2R5B	11	64694345	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	55751329	64694345	70312171	23	52105											
RELT	84957	broad.mit.edu	37	chr11	73105561	73105561	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacgtgccacacatctgcccGcaccgccaccatctccacac	10	5	5	21	3	2	0	0	0	2	0	3	0	2	0	6	0	3	1	6	0	1	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:73105561G>A	ENST00000064780.2	+	9	1089	c.828G>A	c.(826-828)ccG>ccA	p.P276P	RELT_ENST00000393580.2_Silent_p.P276P	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	276						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						ACATCTGCCCGCACCGCCACC	0.706													A	73105561	G	A	73105561	2	1	648	1	0	0	0	0	0	0	0	1	13309	1074	38	1		1	RELT	11	73105561	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	8411216	73105561	61900955	24	52106											
DSCAML1	57453	broad.mit.edu	37	chr11	117391914	117391914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgaagcactggtaggcccCggaatggctcttctgggccg	7	7	15	12	3	2	0	0	0	2	0	2	2	2	1	3	5	2	3	3	5	3	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr11:117391914C>T	ENST00000321322.6	-	6	1325	c.1324G>A	c.(1324-1326)Ggg>Agg	p.G442R	DSCAML1_ENST00000527706.1_Missense_Mutation_p.G172R	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	382	Ig-like C2-type 5.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		TGGTAGGCCCCGGAATGGCTC	0.652													T	117391914	C	T	117391914	3	4	648	1	0	0	0	0	1	0	0	0	4808	652	23	1	5129	1	DSCAML1	11	117391914	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	44286353	117391914	17614602	25	52107											
MPHOSPH9	10198	broad.mit.edu	37	chr12	123687257	123687257	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggaagctgggactgactGactgaggccgaagcaaccat	11	6	13	11	1	0	3	0	3	0	0	0	6	0	5	3	3	3	2	3	3	3	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:123687257G>T	ENST00000606320.1	-	10	1901	c.1695C>A	c.(1693-1695)gtC>gtA	p.V565V	MPHOSPH9_ENST00000302349.5_Silent_p.V413V|MPHOSPH9_ENST00000392425.3_Silent_p.V413V|MPHOSPH9_ENST00000541076.2_Silent_p.V535V			Q99550	MPP9_HUMAN	M-phase phosphoprotein 9	413					M phase of mitotic cell cycle	centriole|Golgi membrane				NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(18)|prostate(2)|skin(1)	33	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000182)|Epithelial(86;0.00046)|BRCA - Breast invasive adenocarcinoma(302;0.169)		GGGACTGACTGACTGAGGCCG	0.433													T	123687257	G	T	123687257	2	4	648	1	0	0	0	0	0	0	0	1	9804	1277	45	4		4	MPHOSPH9	12	123687257	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		123687257	10164638	26	52108											
UBC	7316	broad.mit.edu	37	chr12	125397725	125397725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catcttccagctgttttccgGcaaagatcaacctctgctga	9	12	7	13	1	3	2	1	1	2	1	5	2	5	2	3	1	3	4	3	1	2	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr12:125397725G>A	ENST00000536769.1	-	1	2169	c.593C>T	c.(592-594)gCc>gTc	p.A198V	UBC_ENST00000546120.1_Missense_Mutation_p.A122V|UBC_ENST00000339647.5_Missense_Mutation_p.A198V|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	198	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		CTGTTTTCCGGCAAAGATCAA	0.507													A	125397725	G	A	125397725	3	1	648	1	0	0	0	0	1	0	0	0	16944	1203	42	2	1468	2	UBC	12	125397725	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	1710468	125397725	8454170	27	52109											
FAM65A	79567	broad.mit.edu	37	chr16	67575592	67575592	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaccagccctcagctgcttcTtctgtcaacaaggcctccac	8	9	7	17	0	4	0	2	0	2	0	5	1	5	0	4	1	4	2	4	1	2	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr16:67575592T>G	ENST00000540839.3	+	13	1267	c.1047T>G	c.(1045-1047)tcT>tcG	p.S349S	FAM65A_ENST00000379312.3_Silent_p.S333S|FAM65A_ENST00000428437.2_Silent_p.S343S|FAM65A_ENST00000422602.2_Silent_p.S349S|FAM65A_ENST00000042381.4_Silent_p.S329S			Q6ZS17	FA65A_HUMAN	family with sequence similarity 65, member A	333						cytoplasm	binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(12)|lung(12)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	39		Acute lymphoblastic leukemia(13;3.76e-06)|all_hematologic(13;0.000303)|Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0474)|Epithelial(162;0.117)		CAGCTGCTTCTTCTGTCAACA	0.597													G	67575592	T	G	67575592	2	3	648	1	0	0	0	0	0	0	0	1	5649	1596	56	5		5	FAM65A	16	67575592	Silent	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08		67575592	22779161	28	52110											
KCNJ12	3768	broad.mit.edu	37	chr17	21318742	21318742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaccatgtcgggcgccaacGgcttcggcaacggcaaggtg	8	6	14	13	5	1	0	1	0	0	0	3	0	1	0	2	5	2	3	2	5	3	1	rs150538033		TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:21318742G>A	ENST00000583088.1	+	3	983	c.88G>A	c.(88-90)Ggc>Agc	p.G30S	KCNJ12_ENST00000331718.5_Missense_Mutation_p.G30S	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		GGGCGCCAACGGCTTCGGCAA	0.647										Prostate(3;0.18)			A	21318742	G	A	21318742	3	1	648	1	0	0	0	0	1	0	0	0	8104	1116	39	1	90	1	KCNJ12	17	21318742	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		21318742	59876468	29	52111											
WSB1	26118	broad.mit.edu	37	chr17	25631850	25631850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatactgaagtggtcagaGatttaacttttgctccagat	12	14	8	7	0	2	3	2	1	0	2	3	4	3	3	1	1	3	1	1	1	3	5			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr17:25631850G>A	ENST00000262394.2	+	4	839	c.523G>A	c.(523-525)Gat>Aat	p.D175N	WSB1_ENST00000581185.1_Missense_Mutation_p.D175N|WSB1_ENST00000579733.1_Missense_Mutation_p.D29N|WSB1_ENST00000583193.1_Intron|WSB1_ENST00000348811.2_Missense_Mutation_p.D29N|WSB1_ENST00000427287.2_Missense_Mutation_p.D144N	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	175					intracellular signal transduction	intracellular	protein binding			lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		AGTGGTCAGAGATTTAACTTT	0.348													A	25631850	G	A	25631850	3	1	648	1	0	0	0	0	1	0	0	0	17506	942	33	2	537	2	WSB1	17	25631850	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	4313108	25631850	55563360	30	52112											
USHBP1	83878	broad.mit.edu	37	chr19	17362479	17362479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgttccagctccctgcGcagagactgcagctgctcct	6	9	9	17	1	0	1	0	0	0	1	3	2	3	1	4	0	5	6	4	0	0	1	rs139642055	byFrequency	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17362479G>A	ENST00000252597.3	-	12	2007	c.1834C>T	c.(1834-1836)Cgc>Tgc	p.R612C	USHBP1_ENST00000431146.2_Missense_Mutation_p.R548C|AC010646.3_ENST00000594059.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	612							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						AGCTCCCTGCGCAGAGACTGC	0.602													A	17362479	G	A	17362479	3	1	648	1	0	0	0	0	1	0	0	0	17139	1087	38	1	285	1	USHBP1	19	17362479	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		17362479	41766504	31	52113											
ABHD8	79575	broad.mit.edu	37	chr19	17405266	17405266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacgttgaaagcgttgcccTcctttaacagctgcttctcc	8	12	7	14	2	1	1	0	1	1	0	3	1	2	1	3	0	5	4	3	0	2	5			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:17405266T>C	ENST00000247706.3	-	4	1219	c.980A>G	c.(979-981)gAg>gGg	p.E327G	MRPL34_ENST00000595444.1_Intron|MRPL34_ENST00000600434.1_Intron	NM_024527.4	NP_078803.4	Q96I13	ABHD8_HUMAN	abhydrolase domain containing 8	327							hydrolase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(5)|urinary_tract(1)	9						AGCGTTGCCCTCCTTTAACAG	0.647													C	17405266	T	C	17405266	3	2	648	1	0	0	0	0	1	0	0	0	87	1551	54	3	347	3	ABHD8	19	17405266	Missense_Mutation	SNP	T	TCGA-P5-A72Z-01A-11D-A32B-08	42787	17405266	41723717	32	52114											
CIC	23152	broad.mit.edu	37	chr19	42791805	42791805	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggacaaccggaccgtcAgcaagatcctgggcgagtgg	11	4	14	12	3	1	1	1	0	0	1	2	4	2	3	4	4	2	1	4	4	2	0			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:42791805A>G	ENST00000572681.2	+	6	3486	c.3418A>G	c.(3418-3420)Agc>Ggc	p.S1140G	CIC_ENST00000575354.2_Missense_Mutation_p.S231G|CIC_ENST00000160740.3_Missense_Mutation_p.S231G			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGGACCGTCAGCAAGATCCT	0.622			"Mis, F, S"		oligodendroglioma								G	42791805	A	G	42791805	3	3	648	1	0	0	0	0	1	0	0	0	3454	188	7	3	709	3	CIC	19	42791805	Missense_Mutation	SNP	A	TCGA-P5-A72Z-01A-11D-A32B-08	25386539	42791805	16337178	33	52115											
NLRP2	55655	broad.mit.edu	37	chr19	55494451	55494451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggcctgtgggcgcagaCgtccgtgcttcaccgagagg	6	6	17	12	4	1	2	1	0	0	2	2	3	2	2	3	3	1	3	3	3	0	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr19:55494451C>T	ENST00000543010.1	+	6	1528	c.1385C>T	c.(1384-1386)aCg>aTg	p.T462M	NLRP2_ENST00000537859.1_Missense_Mutation_p.T440M|NLRP2_ENST00000339757.7_Missense_Mutation_p.T440M|NLRP2_ENST00000263437.6_Missense_Mutation_p.T459M|NLRP2_ENST00000427260.2_Missense_Mutation_p.T439M|NLRP2_ENST00000391721.4_Missense_Mutation_p.T438M|NLRP2_ENST00000448584.2_Missense_Mutation_p.T462M|NLRP2_ENST00000538819.1_Missense_Mutation_p.T438M	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	462	NACHT.				apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		TGGGCGCAGACGTCCGTGCTT	0.687													T	55494451	C	T	55494451	3	4	648	1	0	0	0	0	1	0	0	0	10553	536	19	1	1403	1	NLRP2	19	55494451	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	12702646	55494451	3634532	34	52116											
MYH7B	57644	broad.mit.edu	37	chr20	33574784	33574784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatggggaggagctcatcGccaccgacgtatgagctctg	9	8	14	10	3	2	2	1	2	1	0	3	5	2	4	2	3	2	3	2	3	1	1	rs115275866	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:33574784G>A	ENST00000262873.7	+	13	1218	c.1126G>A	c.(1126-1128)Gcc>Acc	p.A376T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	334	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			GGAGCTCATCGCCACCGACGT	0.607													A	33574784	G	A	33574784	3	1	648	1	0	0	0	0	1	0	0	0	10116	1087	38	1	1176	1	MYH7B	20	33574784	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		33574784	29450736	35	52117											
SRMS	6725	broad.mit.edu	37	chr20	62172684	62172684	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcttggagctgctgctcGgggagtagatgtcgtcctgg	5	11	17	8	2	1	1	0	0	1	1	4	4	2	4	1	5	3	4	1	5	1	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr20:62172684G>A	ENST00000217188.1	-	7	1185	c.1145C>T	c.(1144-1146)cCg>cTg	p.P382L		NM_080823.2	NP_543013.1	Q9H3Y6	SRMS_HUMAN	src-related kinase lacking C-terminal regulatory tyrosine and N-terminal myristylation sites	382	Protein kinase.						ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(9)|prostate(2)|stomach(1)	19	all_cancers(38;2.51e-11)|all_epithelial(29;8.27e-13)		Epithelial(9;9.69e-09)|all cancers(9;5.84e-08)|BRCA - Breast invasive adenocarcinoma(10;3.63e-06)			GCTGCTGCTCGGGGAGTAGAT	0.662													A	62172684	G	A	62172684	3	1	648	1	0	0	0	0	1	0	0	0	15248	1116	39	1	329	1	SRMS	20	62172684	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	28597900	62172684	852836	36	52118											
KRTAP21-1	337977	broad.mit.edu	37	chr21	32127495	32127495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctaaagcaaaatggccGgtagccacagtagccagagc	13	7	10	11	1	2	1	0	0	2	1	2	1	2	1	3	2	4	3	3	2	6	4	rs149639659	by1000genomes	TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chr21:32127495G>A	ENST00000335093.3	-	1	251	c.202C>T	c.(202-204)Cgg>Tgg	p.R68W		NM_181619.1	NP_853650.1	Q3LI58	KR211_HUMAN	keratin associated protein 21-1	68						intermediate filament				breast(1)|endometrium(1)|lung(4)|urinary_tract(1)	7						CAAAATGGCCGGTAGCCACAG	0.478													A	32127495	G	A	32127495	3	1	648	1	0	0	0	0	1	0	0	0	8596	1115	39	1	39	1	KRTAP21-1	21	32127495	Missense_Mutation	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		32127495	16002400	37	52119											
ACOT9	23597	broad.mit.edu	37	chrX	23723125	23723125	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cctacctgtgaagaaagaaaGagcaatgagccaacctcaac	17	5	8	11	0	1	5	1	2	0	3	1	5	1	5	4	0	5	1	4	0	7	1			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:23723125G>A	ENST00000379303.5	-	14	1220	c.1092C>T	c.(1090-1092)ctC>ctT	p.L364L	ACOT9_ENST00000379295.1_Silent_p.L295L|ACOT9_ENST00000336430.7_Silent_p.L355L	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	355					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						AAGAAAGAAAGAGCAATGAGC	0.413													A	23723125	G	A	23723125	2	1	648	1	0	0	0	0	0	0	0	1	157	929	33	2		2	ACOT9	23	23723125	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08		23723125	131547435	38	52120											
KDM5C	8242	broad.mit.edu	37	chrX	53226063	53226063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttcacctcatccagccatCgcgcctgttccacctgccgc	5	10	7	19	3	2	0	2	0	0	0	5	0	4	0	7	0	2	2	7	0	0	2			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:53226063C>T	ENST00000452825.3	-	17	3117	c.2585G>A	c.(2584-2586)cGa>cAa	p.R862Q	KDM5C_ENST00000375383.3_Missense_Mutation_p.R888Q|KDM5C_ENST00000375401.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000375379.3_Missense_Mutation_p.R929Q|KDM5C_ENST00000404049.3_Missense_Mutation_p.R928Q	NM_001146702.1	NP_001140174.1	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	929					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						ATCCAGCCATCGCGCCTGTTC	0.672			"N, F, S"		clear cell renal carcinoma								T	53226063	C	T	53226063	3	4	648	1	0	0	0	0	1	0	0	0	8193	884	31	1	2026	1	KDM5C	23	53226063	Missense_Mutation	SNP	C	TCGA-P5-A72Z-01A-11D-A32B-08	29502938	53226063	102044497	39	52121											
PDZD4	57595	broad.mit.edu	37	chrX	153068982	153068982	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctcgggcttgctgtcGccattctgctgctcccgcag	3	12	12	14	3	1	1	0	1	1	0	4	1	2	1	2	1	4	6	2	1	0	3			TCGA-P5-A72Z-01A-11D-A32B-08	TCGA-P5-A72Z-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24e35407-c89c-4456-ae75-ac1a5c654d4e	2cb82482-08eb-45d5-9002-c0470f357383	g.chrX:153068982G>A	ENST00000164640.4	-	8	2327	c.2136C>T	c.(2134-2136)ggC>ggT	p.G712G	PDZD4_ENST00000393758.2_Silent_p.G637G|PDZD4_ENST00000544474.1_Silent_p.G603G	NM_032512.2	NP_115901.2	Q76G19	PDZD4_HUMAN	PDZ domain containing 4	712						cell cortex				breast(3)|cervix(1)|endometrium(5)|lung(13)|skin(1)	23	all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCTTGCTGTCGCCATTCTGCT	0.602													A	153068982	G	A	153068982	2	1	648	1	0	0	0	0	0	0	0	1	11779	1074	38	1		1	PDZD4	23	153068982	Silent	SNP	G	TCGA-P5-A72Z-01A-11D-A32B-08	99842919	153068982	2201578	40	52122											
ADAM15	8751	broad.mit.edu	37	chr1	155034402	155034402	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagctggctgaccgacccaAtccccctacccgccctctgc	6	7	8	20	2	1	2	0	2	1	0	2	3	2	2	6	1	3	2	6	1	2	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:155034402A>G	ENST00000356955.2	+	21	2476	c.2375A>G	c.(2374-2376)aAt>aGt	p.N792S	ADAM15_ENST00000271836.6_Intron|ADAM15_ENST00000368410.2_Intron|ADAM15_ENST00000360674.4_Intron|ADAM15_ENST00000368412.3_Intron|ADAM15_ENST00000531455.1_Intron|ADAM15_ENST00000355956.2_Intron|ADAM15_ENST00000359280.4_Missense_Mutation_p.N767S|ADAM15_ENST00000472434.1_3'UTR|ADAM15_ENST00000368413.1_Intron|ADAM15_ENST00000449910.2_Missense_Mutation_p.N791S	NM_207197.2	NP_997080.1	Q13444	ADA15_HUMAN	ADAM metallopeptidase domain 15	792					angiogenesis|cell-matrix adhesion|collagen catabolic process|proteolysis	acrosomal vesicle|adherens junction|endomembrane system|flagellum|integral to membrane	metalloendopeptidase activity|SH3 domain binding|zinc ion binding			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(5)|urinary_tract(1)	39	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			GACCGACCCAATCCCCCTACC	0.647											OREG0013848	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	155034402	A	G	155034402	3	3	649	1	0	0	0	0	1	0	0	0	237	101	4	3	2457	3	ADAM15	1	155034402	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08		155034402	94216219	1	52123											
OR2T11	127077	broad.mit.edu	37	chr1	248789593	248789593	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagaggattaagcatgggCgtgacaatggtatagaaggc	14	8	15	4	1	0	3	0	2	0	2	0	5	0	4	0	4	1	2	0	4	5	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr1:248789593C>T	ENST00000330803.2	-	1	898	c.837G>A	c.(835-837)acG>acA	p.T279T		NM_001001964.1	NP_001001964.1	Q8NH01	O2T11_HUMAN	olfactory receptor, family 2, subfamily T, member 11 (gene/pseudogene)	279					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(5)|lung(20)|skin(2)	28	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TAAGCATGGGCGTGACAATGG	0.488													T	248789593	C	T	248789593	2	4	649	1	0	0	0	0	0	0	0	1	11094	755	27	1		1	OR2T11	1	248789593	Silent	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	93755191	248789593	461028	2	52124											
VWA3B	200403	broad.mit.edu	37	chr2	98928369	98928369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagagccaagacgagaGaagcccaggaggaaaaagag	18	1	14	8	1	0	4	0	0	0	4	1	9	1	6	3	2	2	0	3	2	4	0			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr2:98928369G>T	ENST00000477737.1	+	27	3813	c.3609G>T	c.(3607-3609)gaG>gaT	p.E1203D	VWA3B_ENST00000490947.2_3'UTR	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	1203										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						CAAGACGAGAGAAGCCCAGGA	0.612													T	98928369	G	T	98928369	3	4	649	1	0	0	0	0	1	0	0	0	17343	933	33	4	3711	4	VWA3B	2	98928369	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		98928369	144271004	3	52125											
C3orf30	152405	broad.mit.edu	37	chr3	118865903	118865903	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gacccaggaacttctgagcaGactgacctcagattgtatgg	11	9	11	10	0	2	4	1	2	1	2	2	6	2	5	2	2	2	2	2	2	2	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:118865903G>A	ENST00000295622.1	+	1	907	c.867G>A	c.(865-867)caG>caA	p.Q289Q		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	289										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		CTTCTGAGCAGACTGACCTCA	0.493													A	118865903	G	A	118865903	2	1	649	1	0	0	0	0	0	0	0	1	2241	933	33	2		2	C3orf30	3	118865903	Silent	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		118865903	79156527	4	52126											
EAF2	55840	broad.mit.edu	37	chr3	121554193	121554193	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agcgggttctcaagttagggGagagtttcgagaagcagccg	10	8	16	7	3	1	2	1	0	1	2	3	4	1	2	1	3	3	4	1	3	3	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr3:121554193G>T	ENST00000273668.2	+	1	132	c.61G>T	c.(61-63)Gag>Tag	p.E21*	EAF2_ENST00000451944.2_Nonsense_Mutation_p.E21*|EAF2_ENST00000465664.1_3'UTR	NM_018456.4	NP_060926.2	Q96CJ1	EAF2_HUMAN	ELL associated factor 2	21	Necessary for interaction with ELL.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)	9				GBM - Glioblastoma multiforme(114;0.0972)		CAAGTTAGGGGAGAGTTTCGA	0.592													T	121554193	G	T	121554193	4	4	649	1	0	0	0	0	0	1	0	0	4915	1175	41	4	63	4	EAF2	3	121554193	Nonsense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	2688290	121554193	76468237	5	52127											
NDST3	9348	broad.mit.edu	37	chr4	118975673	118975673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcattctccattgattcGtgtgaccaaatcttccaagc	9	14	5	13	1	3	2	1	2	2	0	7	2	5	2	4	0	1	0	4	0	2	4			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr4:118975673G>A	ENST00000296499.5	+	2	1011	c.608G>A	c.(607-609)cGt>cAt	p.R203H	NDST3_ENST00000433996.2_Missense_Mutation_p.R203H	NM_004784.2	NP_004775.1	O95803	NDST3_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 3	203	Heparan sulfate N-deacetylase 3.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(23)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	54						CCATTGATTCGTGTGACCAAA	0.358													A	118975673	G	A	118975673	3	1	649	1	0	0	0	0	1	0	0	0	10333	1145	40	1	610	1	NDST3	4	118975673	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08		118975673	72178603	6	52128											
NIPBL	25836	broad.mit.edu	37	chr5	36961653	36961653	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctgcatcttccaattaTcaacaaaccactatctcaca	14	11	2	14	0	3	0	2	0	2	0	6	0	5	0	3	0	3	1	3	0	5	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:36961653T>A	ENST00000282516.8	+	5	925	c.426T>A	c.(424-426)taT>taA	p.Y142*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.Y142*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	142					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCCAATTATCAACAAACCA	0.333													A	36961653	T	A	36961653	4	1	649	1	0	0	0	0	0	1	0	0	10504	1442	50	5	440	5	NIPBL	5	36961653	Nonsense_Mutation	SNP	T	TCGA-P5-A730-01A-11D-A32B-08		36961653	143953607	7	52129											
GPR98	84059	broad.mit.edu	37	chr5	89924557	89924557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caattcctcttactgtggttGatgatgatcttccagaagag	10	14	9	8	0	2	5	0	3	2	2	4	5	4	5	2	1	1	1	2	1	3	4			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:89924557G>A	ENST00000405460.2	+	8	1513	c.1417G>A	c.(1417-1419)Gat>Aat	p.D473N		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	473	Calx-beta 4.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TACTGTGGTTGATGATGATCT	0.478													A	89924557	G	A	89924557	3	1	649	1	0	0	0	0	1	0	0	0	6776	1290	45	2	1447	2	GPR98	5	89924557	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	52962904	89924557	90990703	8	52130											
SYNPO	11346	broad.mit.edu	37	chr5	150036401	150036401	+	Frame_Shift_Del	DEL	C	C	-																															tgccgggggcagccttcgcgCccatcccgcggagcccgttg																										TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:150036401delC	ENST00000307662.4	+	3	2993	c.2464delC	c.(2464-2466)cccfs	p.P822fs		NM_007286.5	NP_009217.3	Q8N3V7	SYNPO_HUMAN	synaptopodin	878	Pro-rich.				positive regulation of actin filament bundle assembly|regulation of stress fiber assembly	actin cytoskeleton|cytoplasm|dendritic spine|perikaryon|postsynaptic density|postsynaptic membrane|tight junction	actin binding|protein binding			NS(1)|cervix(1)|endometrium(3)|large_intestine(6)|lung(4)|prostate(1)|urinary_tract(2)	18		Medulloblastoma(196;0.134)|all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AGCCTTCGCGCCCATCCCGCG	0.821													-	150036401	C	-	150036401	7	5	649	1	0	1	0	1	0	0	0	0	15553	739	26	0	3236	0	SYNPO	5	150036401	Frame_Shift_Del	DEL	C	TCGA-P5-A730-01A-11D-A32B-08	60111844	150036401	30878859	9	52131											
DDX41	51428	broad.mit.edu	37	chr5	176940447	176940447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagttctgaatcttcttCggcatggtggcactgaagag	10	11	12	8	1	3	3	0	2	3	1	4	3	3	3	0	3	0	4	0	3	3	3	rs144382614		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr5:176940447C>T	ENST00000507955.1	-	11	1660	c.1137G>A	c.(1135-1137)ccG>ccA	p.P379P		NM_016222.2	NP_057306.2	Q9UJV9	DDX41_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 41	379	Helicase ATP-binding.				apoptosis|multicellular organismal development	catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding|zinc ion binding					all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GAATCTTCTTCGGCATGGTGG	0.617													T	176940447	C	T	176940447	2	4	649	1	0	0	0	0	0	0	0	1	4395	871	31	1		1	DDX41	5	176940447	Silent	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	26904046	176940447	3974813	10	52132											
LRRC16A	55604	broad.mit.edu	37	chr6	25450191	25450191	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtctccaggcgctgtgggAcagccagaccgtggctgagc	7	7	15	12	2	1	2	0	1	1	1	2	3	1	3	3	3	2	2	3	3	1	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:25450191A>G	ENST00000329474.6	+	6	805	c.437A>G	c.(436-438)gAc>gGc	p.D146G	LRRC16A_ENST00000377969.3_5'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	146					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						GCGCTGTGGGACAGCCAGACC	0.498													G	25450191	A	G	25450191	3	3	649	1	0	0	0	0	1	0	0	0	9041	275	10	3	459	3	LRRC16A	6	25450191	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08		25450191	145664876	11	52133											
TNFAIP3	7128	broad.mit.edu	37	chr6	138195987	138195987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctttctgtcctcaggtgacGgcaattgcctcatgcatgcc	6	12	9	14	1	3	1	2	1	1	0	4	1	4	1	4	2	3	2	4	2	1	2			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr6:138195987G>A	ENST00000237289.4	+	3	367	c.301G>A	c.(301-303)Ggc>Agc	p.G101S		NM_001270507.1|NM_001270508.1|NM_006290.3	NP_001257436.1|NP_001257437.1|NP_006281.1	P21580	TNAP3_HUMAN	tumor necrosis factor, alpha-induced protein 3	101	OTU.|TRAF-binding.				anti-apoptosis|apoptosis|B-1 B cell homeostasis|negative regulation of B cell activation|negative regulation of bone resorption|negative regulation of CD40 signaling pathway|negative regulation of endothelial cell apoptosis|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of inflammatory response|negative regulation of interleukin-2 production|negative regulation of interleukin-6 production|negative regulation of NF-kappaB transcription factor activity|negative regulation of osteoclast proliferation|negative regulation of protein ubiquitination|negative regulation of smooth muscle cell proliferation|negative regulation of toll-like receptor 2 signaling pathway|negative regulation of toll-like receptor 3 signaling pathway|negative regulation of tumor necrosis factor production|negative regulation of type I interferon production|positive regulation of protein catabolic process|protein K48-linked ubiquitination|protein K63-linked deubiquitination|protein oligomerization|regulation of defense response to virus by host|regulation of germinal center formation|regulation of vascular wound healing|tolerance induction to lipopolysaccharide	centrosome|cytosol|nucleus	caspase inhibitor activity|DNA binding|protease binding|protein self-association|ubiquitin binding|ubiquitin thiolesterase activity|ubiquitin-protein ligase activity|ubiquitin-specific protease activity|zinc ion binding	p.0?(25)|p.G101fs*38(1)		breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(196)|kidney(1)|large_intestine(4)|lung(13)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	225	Breast(32;0.135)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000849)|OV - Ovarian serous cystadenocarcinoma(155;0.00468)		CTCAGGTGACGGCAATTGCCT	0.488			"D, N, F"		"marginal zone B-cell lymphomas, Hodgkin's lymphoma, primary mediastinal B cell lymphoma"								A	138195987	G	A	138195987	3	1	649	1	0	0	0	0	1	0	0	0	16374	1116	39	1	307	1	TNFAIP3	6	138195987	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	112745796	138195987	32919080	12	52134											
BUD31	8896	broad.mit.edu	37	chr7	99015057	99015058	+	Frame_Shift_Del	DEL	TA	TA	-																															ccatctttttgacagaactcTatgaatattgtattaaagaa																										TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99015057_99015058delTA	ENST00000403633.2	+	5	752_753	c.223_224delTA	c.(223-225)tatfs	p.Y75fs	BUD31_ENST00000431419.1_Frame_Shift_Del_p.Y46fs|BUD31_ENST00000222969.5_Frame_Shift_Del_p.Y75fs|BUD31_ENST00000456893.1_Frame_Shift_Del_p.Y34fs|PTCD1_ENST00000292478.4_3'UTR			P41223	BUD31_HUMAN	BUD31 homolog (S. cerevisiae)	75				YEYCI -> LDICY (in Ref. 1; AAA20008).	regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)	4	all_cancers(62;1.76e-08)|all_epithelial(64;1.63e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)		STAD - Stomach adenocarcinoma(171;0.215)			GACAGAACTCTATGAATATTGT	0.436													-	99015058	TA	-	99015057	7	5	649	1	0	1	0	1	0	0	0	0	1584	1522	53	0	233	0	BUD31	7	99015057	Frame_Shift_Del	DEL	TA	TCGA-P5-A730-01A-11D-A32B-08		99015057	60123606	13	52135											
MCM7	4176	broad.mit.edu	37	chr7	99697010	99697010	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcaatgtaaacgtccaggAcatctttatttaccacctaa	13	12	5	11	1	2	0	1	0	1	0	3	1	3	1	3	1	2	2	3	1	6	6			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:99697010A>C	ENST00000303887.5	-	4	938	c.293T>G	c.(292-294)gTc>gGc	p.V98G	MCM7_ENST00000343023.6_Missense_Mutation_p.V98G|MCM7_ENST00000354230.3_5'UTR	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	98					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	AACGTCCAGGACATCTTTATT	0.488													C	99697010	A	C	99697010	3	2	649	1	0	0	0	0	1	0	0	0	9467	275	10	5	1914	5	MCM7	7	99697010	Missense_Mutation	SNP	A	TCGA-P5-A730-01A-11D-A32B-08	681953	99697010	59441653	14	52136											
MDFIC	29969	broad.mit.edu	37	chr7	114655883	114655883	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacgagatgggggatgattGtaactgcccttgtgatatgg	9	12	15	5	1	0	4	0	3	0	1	0	6	0	5	1	3	2	1	1	3	2	4			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:114655883G>T	ENST00000257724.3	+	5	1225	c.962G>T	c.(961-963)tGt>tTt	p.C321F	MDFIC_ENST00000393486.1_Missense_Mutation_p.C212F			Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	212					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						GGGGATGATTGTAACTGCCCT	0.488													T	114655883	G	T	114655883	3	4	649	1	0	0	0	0	1	0	0	0	9480	1377	48	4	1022	4	MDFIC	7	114655883	Missense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	14958873	114655883	44482780	15	52137											
PAX4	5078	broad.mit.edu	37	chr7	127255074	127255074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccagccgtggcttgcttcCcccaatgccctttggctcca	5	10	9	17	1	0	0	0	0	0	0	2	0	2	0	6	2	4	3	6	2	1	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr7:127255074C>T	ENST00000341640.2	-	2	401	c.196G>A	c.(196-198)Gga>Aga	p.G66R	PAX4_ENST00000338516.3_Missense_Mutation_p.G74R|PAX4_ENST00000463946.1_Missense_Mutation_p.G64R|PAX4_ENST00000378740.2_Missense_Mutation_p.G66R	NM_006193.2	NP_006184.2	O43316	PAX4_HUMAN	paired box 4	74	Paired.				cell differentiation|endocrine pancreas development|organ morphogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCTTGCTTCCCCCAATGCCC	0.577													T	127255074	C	T	127255074	3	4	649	1	0	0	0	0	1	0	0	0	11557	632	22	2	867	2	PAX4	7	127255074	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	12599191	127255074	31883589	16	52138											
PNMA2	10687	broad.mit.edu	37	chr8	26365638	26365638	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catgaggtccagggcagggcCccgcaggctttccgccagcc	6	5	14	16	2	0	1	0	1	0	0	2	1	2	1	6	4	1	3	6	4	0	1			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:26365638C>T	ENST00000522362.2	-	3	1528	c.634G>A	c.(634-636)Ggc>Agc	p.G212S		NM_007257.5	NP_009188.1	Q9UL42	PNMA2_HUMAN	paraneoplastic Ma antigen 2	212					apoptosis	nucleolus	protein binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)	11		all_cancers(63;0.109)|Ovarian(32;2.61e-05)|all_epithelial(46;0.105)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0196)|Epithelial(17;3.13e-11)|Colorectal(74;0.123)		agggcagggccccgcaggctt	0.542													T	26365638	C	T	26365638	3	4	649	1	0	0	0	0	1	0	0	0	12231	623	22	2	464	2	PNMA2	8	26365638	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		26365638	119998384	17	52139											
MAK16	84549	broad.mit.edu	37	chr8	33346581	33346581	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttactggccccgtttcattCgacacaaatgtaagcagaga	12	11	8	10	2	1	1	1	0	0	1	2	3	1	1	2	1	2	3	2	1	3	5			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr8:33346581C>T	ENST00000360128.6	+	5	773	c.316C>T	c.(316-318)Cga>Tga	p.R106*	TTI2_ENST00000519356.1_Intron	NM_032509.3	NP_115898.2	Q9BXY0	MAK16_HUMAN	MAK16 homolog (S. cerevisiae)	106						nucleolus				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|urinary_tract(1)	8						CCGTTTCATTCGACACAAATG	0.373													T	33346581	C	T	33346581	4	4	649	1	0	0	0	0	0	1	0	0	9273	876	31	1	334	1	MAK16	8	33346581	Nonsense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	6980943	33346581	113017441	18	52140											
MARCH8	220972	broad.mit.edu	37	chr10	45953818	45953818	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagtggagatttttcaaaaaTattctttttgcttgtttctg	9	21	7	4	0	3	1	1	0	2	1	3	2	3	1	0	1	1	2	0	1	4	9			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr10:45953818T>C	ENST00000453424.2	-	8	1852	c.1591A>G	c.(1591-1593)Att>Gtt	p.I531V	MARCH8_ENST00000395769.2_Missense_Mutation_p.I249V|MARCH8_ENST00000476962.1_5'UTR|MARCH8_ENST00000395771.3_Missense_Mutation_p.I249V|MARCH8_ENST00000319836.3_Missense_Mutation_p.I249V	NM_001282866.1	NP_001269795.1	Q5T0T0	MARH8_HUMAN	membrane-associated ring finger (C3HC4) 8, E3 ubiquitin protein ligase	249						cytoplasmic vesicle membrane|early endosome membrane|integral to membrane|lysosomal membrane	ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	12						TTTTCAAAAATATTCTTTTTG	0.368													C	45953818	T	C	45953818	3	2	649	1	0	0	0	0	1	0	0	0	9382	1406	49	3	134	3	MARCH8	10	45953818	Missense_Mutation	SNP	T	TCGA-P5-A730-01A-11D-A32B-08		45953818	89580929	19	52141											
NLRP10	338322	broad.mit.edu	37	chr11	7981342	7981342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggtccatgactcaagctgCttttgacagaaaataaattc	14	12	7	8	0	1	3	1	2	0	1	3	3	2	3	1	1	2	2	1	1	6	5			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:7981342C>T	ENST00000328600.2	-	2	1978	c.1817G>A	c.(1816-1818)aGc>aAc	p.S606N		NM_176821.3	NP_789791.1	Q86W26	NAL10_HUMAN	NLR family, pyrin domain containing 10	606							ATP binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	58				Epithelial(150;1.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		ACTCAAGCTGCTTTTGACAGA	0.368													T	7981342	C	T	7981342	3	4	649	1	0	0	0	0	1	0	0	0	10548	797	28	2	154	2	NLRP10	11	7981342	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		7981342	127025174	20	52142											
KIF18A	81930	broad.mit.edu	37	chr11	28098686	28098686	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctaatttcttctcgattCtggaacaagcagttcaggat	10	15	8	8	1	5	0	1	0	4	0	6	3	5	2	0	2	2	2	0	2	3	5			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:28098686C>G	ENST00000263181.6	-	10	1583	c.1293G>C	c.(1291-1293)caG>caC	p.Q431H		NM_031217.3	NP_112494.3	Q8NI77	KI18A_HUMAN	kinesin family member 18A	431					blood coagulation|microtubule depolymerization|microtubule-based movement|mitotic metaphase plate congression|mitotic prometaphase|protein transport	caveola|cytosol|kinetochore microtubule|microtubule organizing center|nucleus|ruffle	actin binding|ATP binding|microtubule plus-end binding|plus-end-directed microtubule motor activity|tubulin-dependent ATPase activity|ubiquitin binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	36						CTTCTCGATTCTGGAACAAGC	0.303													G	28098686	C	G	28098686	3	3	649	1	0	0	0	0	1	0	0	0	8338	912	32	4	1435	4	KIF18A	11	28098686	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	20117344	28098686	106907830	21	52143											
RAG1	5896	broad.mit.edu	37	chr11	36595107	36595107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agccattgttaaaagcccacCctaagttttcaaagaaattt	15	12	5	9	0	1	1	1	0	0	1	1	1	1	1	3	0	2	2	3	0	5	6			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:36595107C>T	ENST00000299440.5	+	2	365	c.253C>T	c.(253-255)Cct>Tct	p.P85S		NM_000448.2	NP_000439	P15918	RAG1_HUMAN	recombination activating gene 1	85	Interaction with importin alpha-1.				histone monoubiquitination|immune response|pre-B cell allelic exclusion|protein autoubiquitination|T cell differentiation in thymus|V(D)J recombination	nucleus	endonuclease activity|histone binding|protein homodimerization activity|sequence-specific DNA binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	65	all_lung(20;0.226)	all_hematologic(20;0.107)				AAAAGCCCACCCTAAGTTTTC	0.488									Familial Hemophagocytic Lymphohistiocytosis				T	36595107	C	T	36595107	3	4	649	1	0	0	0	0	1	0	0	0	13091	623	22	2	255	2	RAG1	11	36595107	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08	8496421	36595107	98411409	22	52144											
ARHGEF12	23365	broad.mit.edu	37	chr11	120350735	120350735	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagagcgttcaggaagactGgcaacatttcccaagataca	15	7	10	9	1	1	3	1	0	0	3	2	5	2	4	1	2	3	2	1	2	5	3			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr11:120350735G>A	ENST00000397843.2	+	38	3999	c.3833G>A	c.(3832-3834)tGg>tAg	p.W1278*	ARHGEF12_ENST00000356641.3_Nonsense_Mutation_p.W1259*|ARHGEF12_ENST00000532993.1_Nonsense_Mutation_p.W1175*	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1278					apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		CAGGAAGACTGGCAACATTTC	0.463			T	MLL	AML								A	120350735	G	A	120350735	4	1	649	1	0	0	0	0	0	1	0	0	900	1357	47	2	3983	2	ARHGEF12	11	120350735	Nonsense_Mutation	SNP	G	TCGA-P5-A730-01A-11D-A32B-08	83755628	120350735	14655781	23	52145											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	649	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		90631838	11899554	24	52146											
ZADH2	284273	broad.mit.edu	37	chr18	72913697	72913697	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtagccagagataaaccCtattactatcaagcgccctt	12	11	7	11	1	1	1	1	0	0	1	1	2	1	1	3	1	4	1	3	1	7	7			TCGA-P5-A730-01A-11D-A32B-08	TCGA-P5-A730-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8be88dff-3e17-4c99-a334-a9cc7c045ba2	c6b43adc-7b1f-44df-bea6-9448d31209c4	g.chr18:72913697C>G	ENST00000322342.3	-	2	1097	c.808G>C	c.(808-810)Ggg>Cgg	p.G270R	ZADH2_ENST00000537114.2_Missense_Mutation_p.G147R	NM_175907.4	NP_787103.1	Q8N4Q0	ZADH2_HUMAN	zinc binding alcohol dehydrogenase domain containing 2	270						peroxisome	oxidoreductase activity|zinc ion binding			endometrium(3)|large_intestine(3)|lung(8)|skin(1)	15		Esophageal squamous(42;0.131)|Prostate(75;0.155)		READ - Rectum adenocarcinoma(2;0.0276)|BRCA - Breast invasive adenocarcinoma(31;0.216)		GAGATAAACCCTATTACTATC	0.512													G	72913697	C	G	72913697	3	3	649	1	0	0	0	0	1	0	0	0	17613	681	24	4	329	4	ZADH2	18	72913697	Missense_Mutation	SNP	C	TCGA-P5-A730-01A-11D-A32B-08		72913697	5163551	25	52147											
KIF5C	3800	broad.mit.edu	37	chr2	149679749	149679749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtgctacctcccaacaCgacccaagagcaggtttaca	13	6	8	14	1	0	2	0	0	0	2	1	3	1	2	3	1	5	3	3	1	4	3			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:149679749C>T	ENST00000435030.1	+	2	538	c.170C>T	c.(169-171)aCg>aTg	p.T57M				O60282	KIF5C_HUMAN	kinesin family member 5C	57	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		CCTCCCAACACGACCCAAGAG	0.408													T	149679749	C	T	149679749	3	4	650	1	0	0	0	0	1	0	0	0	8365	536	19	1	176	1	KIF5C	2	149679749	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		149679749	93519624	1	52148											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	650	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	59433363	209113112	34086261	2	52149											
ITPR1	3708	broad.mit.edu	37	chr3	4829646	4829646	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctagattgtcagattagacCgaacaatggaacagatagtc	15	9	9	8	1	1	4	1	0	0	4	2	6	1	5	2	1	2	0	2	1	6	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:4829646C>T	ENST00000354582.6	+	51	6936	c.6586C>T	c.(6586-6588)Cga>Tga	p.R2196*	ITPR1_ENST00000357086.4_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000456211.2_Nonsense_Mutation_p.R2148*|ITPR1_ENST00000443694.2_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000302640.8_Nonsense_Mutation_p.R2196*|ITPR1_ENST00000423119.2_Nonsense_Mutation_p.R2163*|ITPR1_ENST00000544951.1_Intron			Q14643	ITPR1_HUMAN	inositol 1,4,5-trisphosphate receptor, type 1	2211					activation of phospholipase C activity|cell death|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	endoplasmic reticulum membrane|integral to membrane|platelet dense granule membrane|platelet dense tubular network membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|intracellular ligand-gated calcium channel activity|phosphatidylinositol binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(10)|endometrium(15)|kidney(6)|large_intestine(27)|liver(1)|lung(27)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(2)	106				Epithelial(13;0.0199)|OV - Ovarian serous cystadenocarcinoma(96;0.0361)|all cancers(10;0.0982)		CAGATTAGACCGAACAATGGA	0.388													T	4829646	C	T	4829646	4	4	650	1	0	0	0	0	0	1	0	0	7978	644	23	1	6829	1	ITPR1	3	4829646	Nonsense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		4829646	193192784	3	52150											
STAB1	23166	broad.mit.edu	37	chr3	52539130	52539130	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcactggcctgcggtggcagGccccctctgggacccctggg	3	7	15	16	1	2	0	1	0	1	0	2	1	2	1	5	6	1	1	5	6	0	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:52539130G>A	ENST00000321725.6	+	13	1565	c.1489G>A	c.(1489-1491)Gcc>Acc	p.A497T		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	497					cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		GCGGTGGCAGGCCCCCTCTGG	0.607													A	52539130	G	A	52539130	3	1	650	1	0	0	0	0	1	0	0	0	15333	1203	42	2	1539	2	STAB1	3	52539130	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	47709484	52539130	145483300	4	52151											
CLDND1	56650	broad.mit.edu	37	chr3	98235544	98235544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattaaggtgtactctttccGgttggtgtgagcagcccaga	8	12	12	9	1	1	2	0	1	1	1	2	2	2	2	2	3	3	3	2	3	2	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr3:98235544G>A	ENST00000503004.1	-	5	1600	c.721C>T	c.(721-723)Cgg>Tgg	p.R241W	CLDND1_ENST00000507874.1_Intron|CLDND1_ENST00000394181.2_Missense_Mutation_p.R241W|CLDND1_ENST00000341181.6_Missense_Mutation_p.R241W|CLDND1_ENST00000437922.1_Missense_Mutation_p.R264W|CLDND1_ENST00000511081.1_Missense_Mutation_p.R146W|CLDND1_ENST00000394185.2_Missense_Mutation_p.R241W|CLDND1_ENST00000513287.1_Missense_Mutation_p.R241W|CLDND1_ENST00000502288.1_Intron|CLDND1_ENST00000394180.2_Missense_Mutation_p.R241W|CLDND1_ENST00000510545.1_Missense_Mutation_p.R241W			Q9NY35	CLDN1_HUMAN	claudin domain containing 1	241						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(1)	9						TACTCTTTCCGGTTGGTGTGA	0.428													A	98235544	G	A	98235544	3	1	650	1	0	0	0	0	1	0	0	0	3524	1115	39	1	44	1	CLDND1	3	98235544	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	45696414	98235544	99786886	5	52152											
DSP	1832	broad.mit.edu	37	chr6	7579935	7579935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaggagaaggagtacgagaTtgaaaggttgagggttctac	14	8	15	4	1	1	4	0	2	1	2	1	7	1	5	0	4	2	3	0	4	5	5			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr6:7579935T>C	ENST00000379802.3	+	23	3853	c.3512T>C	c.(3511-3513)aTt>aCt	p.I1171T	DSP_ENST00000418664.2_Missense_Mutation_p.I1171T	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1171	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GAGTACGAGATTGAAAGGTTG	0.443													C	7579935	T	C	7579935	3	2	650	1	0	0	0	0	1	0	0	0	4820	1493	52	3	3602	3	DSP	6	7579935	Missense_Mutation	SNP	T	TCGA-P5-A731-01A-11D-A32B-08		7579935	163535132	6	52153											
TRIM24	8805	broad.mit.edu	37	chr7	138261187	138261187	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctccagcgttggaagccgagGaaggtaaactgactaaacca	14	6	11	10	2	0	1	0	1	0	0	1	4	1	3	3	3	4	2	3	3	6	3			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:138261187G>A	ENST00000343526.4	+	13	2299	c.2084G>A	c.(2083-2085)gGa>gAa	p.G695E	TRIM24_ENST00000415680.2_Missense_Mutation_p.G661E			O15164	TIF1A_HUMAN	tripartite motif containing 24	695					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						GGAAGCCGAGGAAGGTAAACT	0.378													A	138261187	G	A	138261187	3	1	650	1	0	0	0	0	1	0	0	0	16599	1174	41	2	2134	2	TRIM24	7	138261187	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		138261187	20877476	7	52154											
TRPV6	55503	broad.mit.edu	37	chr7	142573433	142573433	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggtccaggatctggcgagCctgcaacagaaagagaacag	13	5	13	10	1	1	2	0	0	1	2	2	5	2	3	2	3	4	1	2	3	3	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr7:142573433C>T	ENST00000359396.3	-	8	1155	c.910G>A	c.(910-912)Gct>Act	p.A304T		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	304					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					ATCTGGCGAGCCTGCAACAGA	0.597													T	142573433	C	T	142573433	5	4	650	1	0	0	0	0	0	0	1	0	16701	753	26	2	1299	2	TRPV6	7	142573433	Splice_Site	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	4312246	142573433	16565230	8	52155											
CDH17	1015	broad.mit.edu	37	chr8	95178204	95178204	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	taagggtcccgatactgttaCctatgaggaaggaaagaagg	14	8	13	6	1	0	2	0	1	0	1	1	5	1	4	2	4	2	1	2	4	7	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:95178204C>A	ENST00000027335.3	-	10	1191	c.1067G>T	c.(1066-1068)gGt>gTt	p.G356V	CDH17_ENST00000450165.2_Splice_Site_p.G356V|CDH17_ENST00000441892.2_Splice_Site_p.G142V	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	356	Cadherin 4.					integral to membrane	calcium ion binding			NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			GATACTGTTACCTATGAGGAA	0.398													A	95178204	C	A	95178204	5	1	650	1	0	0	0	0	0	0	1	0	3132	521	18	4	1467	4	CDH17	8	95178204	Splice_Site	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		95178204	51185818	9	52156											
OXR1	55074	broad.mit.edu	37	chr8	107704967	107704967	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aaaaaaaagaatcctgatgtCcatccaacagaagcaactcc	19	6	5	11	0	0	3	0	1	0	2	4	3	4	3	4	0	3	1	4	0	8	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr8:107704967C>T	ENST00000445937.1	+	7	798	c.537C>T	c.(535-537)gtC>gtT	p.V179V	OXR1_ENST00000442977.2_Silent_p.V180V|OXR1_ENST00000452423.2_5'UTR|OXR1_ENST00000531443.1_Silent_p.V179V|OXR1_ENST00000312046.6_Silent_p.V172V|OXR1_ENST00000497705.1_Silent_p.V112V|OXR1_ENST00000517566.2_Silent_p.V179V	NM_018002.3	NP_060472.2	Q8N573	OXR1_HUMAN	oxidation resistance 1	180					cell wall macromolecule catabolic process|response to oxidative stress	mitochondrion				NS(2)|breast(2)|endometrium(2)|large_intestine(9)|lung(10)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31			OV - Ovarian serous cystadenocarcinoma(57;1.81e-09)			ATCCTGATGTCCATCCAACAG	0.338													T	107704967	C	T	107704967	2	4	650	1	0	0	0	0	0	0	0	1	11410	842	30	2		2	OXR1	8	107704967	Silent	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	12526763	107704967	38659055	10	52157											
TMEFF1	8577	broad.mit.edu	37	chr9	103338864	103338864	+	Frame_Shift_Del	DEL	G	G	-																															ggtcattttacttcagatacGtcatccagaatggtttaaac																										TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:103338864delG	ENST00000374879.4	+	10	1557	c.1125delG	c.(1123-1125)acgfs	p.T375fs	TMEFF1_ENST00000334943.6_Frame_Shift_Del_p.T336fs|MSANTD3-TMEFF1_ENST00000502978.1_Frame_Shift_Del_p.V339fs	NM_003692.4	NP_003683.2			transmembrane protein with EGF-like and two follistatin-like domains 1											NS(1)|kidney(1)|large_intestine(7)|lung(9)|stomach(1)	19		Acute lymphoblastic leukemia(62;0.0452)				CTTCAGATACGTCATCCAGAA	0.308													-	103338864	G	-	103338864	7	5	650	1	0	1	0	1	0	0	0	0	16113	1132	40	0	1163	0	TMEFF1	9	103338864	Frame_Shift_Del	DEL	G	TCGA-P5-A731-01A-11D-A32B-08		103338864	37874567	11	52158											
INPP5E	56623	broad.mit.edu	37	chr9	139326361	139326361	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcacaggagggcgtccacGactgtgcgcccgccactcag	7	5	14	15	4	1	0	1	0	0	0	2	2	2	1	3	3	1	1	3	3	0	0	rs140255426	byFrequency	TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr9:139326361G>A	ENST00000371712.3	-	7	1866	c.1464C>T	c.(1462-1464)gtC>gtT	p.V488V		NM_019892.4	NP_063945.2	Q9NRR6	INP5E_HUMAN	inositol polyphosphate-5-phosphatase, 72 kDa	488						cilium axoneme|cytoskeleton|Golgi cisterna membrane	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity			NS(1)|endometrium(1)|lung(4)|skin(3)	9		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;8.36e-06)|Epithelial(140;1.4e-05)		GGGCGTCCACGACTGTGCGCC	0.667													A	139326361	G	A	139326361	2	1	650	1	0	0	0	0	0	0	0	1	7815	1045	37	1		1	INPP5E	9	139326361	Silent	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	35987497	139326361	1887070	12	52159											
SIRT1	23411	broad.mit.edu	37	chr10	69669113	69669113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaccagaacagtttcataGagccatgaagtatgacaaag	16	10	8	7	0	1	4	1	2	0	2	1	4	1	4	2	0	3	2	2	0	6	5			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr10:69669113G>C	ENST00000212015.6	+	7	1324	c.1271G>C	c.(1270-1272)aGa>aCa	p.R424T	SIRT1_ENST00000403579.1_Missense_Mutation_p.R121T|SIRT1_ENST00000432464.1_Missense_Mutation_p.R129T|SIRT1_ENST00000406900.1_Missense_Mutation_p.R121T	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	424	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						CAGTTTCATAGAGCCATGAAG	0.418													C	69669113	G	C	69669113	3	2	650	1	0	0	0	0	1	0	0	0	14431	942	33	4	1297	4	SIRT1	10	69669113	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		69669113	65865634	13	52160											
OR52N4	390072	broad.mit.edu	37	chr11	5776137	5776137	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcattcactatgaggatgCcctgcacaaacccatgtact	11	10	6	14	0	2	1	2	1	0	0	2	2	2	2	3	1	4	2	3	1	3	3			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr11:5776137C>T	ENST00000317254.3	+	1	215	c.167C>T	c.(166-168)gCc>gTc	p.A56V	TRIM5_ENST00000380027.1_Intron	NM_001005175.2	NP_001005175.3	Q8NGI2	O52N4_HUMAN	olfactory receptor, family 52, subfamily N, member 4 (gene/pseudogene)	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;1.87e-10)|LUSC - Lung squamous cell carcinoma(625;0.114)|BRCA - Breast invasive adenocarcinoma(625;0.135)|Lung(200;0.197)		TATGAGGATGCCCTGCACAAA	0.453													T	5776137	C	T	5776137	3	4	650	1	0	0	0	0	1	0	0	0	11205	739	26	2	169	2	OR52N4	11	5776137	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		5776137	129230379	14	52161											
LTA4H	4048	broad.mit.edu	37	chr12	96400139	96400139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcaattgatgagaagagaGatccttcaggtctgtggcat	12	12	11	6	0	3	4	2	2	1	3	4	6	4	4	1	2	0	1	1	2	2	3			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:96400139G>A	ENST00000228740.2	-	16	1624	c.1483C>T	c.(1483-1485)Ctc>Ttc	p.L495F	LTA4H_ENST00000413268.2_Missense_Mutation_p.L471F|LTA4H_ENST00000552789.1_Missense_Mutation_p.L471F|LTA4H_ENST00000548375.1_5'UTR|RP11-256L6.3_ENST00000551849.1_RNA	NM_000895.2	NP_000886.1	P09960	LKHA4_HUMAN	leukotriene A4 hydrolase	495					hormone biosynthetic process|inflammatory response|leukotriene biosynthetic process|peptide catabolic process|prostanoid metabolic process|proteolysis	cytosol|nucleus	aminopeptidase activity|epoxide hydrolase activity|leukotriene-A4 hydrolase activity|metallopeptidase activity|protein binding|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(3)|lung(4)|skin(2)|stomach(1)	12						TGAGAAGAGAGATCCTTCAGG	0.338													A	96400139	G	A	96400139	3	1	650	1	0	0	0	0	1	0	0	0	9139	942	33	2	368	2	LTA4H	12	96400139	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		96400139	37451756	15	52162											
DDX54	79039	broad.mit.edu	37	chr12	113614883	113614883	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcgtgcagggctgcAaactggtcttccatcctaga	8	12	11	10	1	1	1	0	0	1	1	4	2	3	2	2	3	3	3	2	3	2	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr12:113614883A>G	ENST00000314045.7	-	6	657	c.630T>C	c.(628-630)ttT>ttC	p.F210F	DDX54_ENST00000306014.5_Silent_p.F210F	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	210	Helicase ATP-binding.				estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						GCAGGGCTGCAAACTGGTCTT	0.517													G	113614883	A	G	113614883	2	3	650	1	0	0	0	0	0	0	0	1	4406	127	5	3		3	DDX54	12	113614883	Silent	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	17214744	113614883	20237012	16	52163											
GPX2	2877	broad.mit.edu	37	chr14	65406518	65406519	+	Frame_Shift_Ins	INS	-	-	T																															cacccccaggacggacatacINSttgagactgttcaggatctc																										TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:65406518_65406519insT	ENST00000389614.5	-	2	346_347	c.260_261insA	c.(259-261)aagfs	p.K87fs	CHURC1-FNTB_ENST00000549987.1_Intron|FNTB_ENST00000447296.2_Intron|FNTB_ENST00000542227.1_Intron	NM_002083.3	NP_002074.2	P18283	GPX2_HUMAN	glutathione peroxidase 2 (gastrointestinal)	87					response to oxidative stress	cytoplasm	electron carrier activity|glutathione peroxidase activity			large_intestine(2)|ovary(1)|skin(1)	4				all cancers(60;0.00117)|OV - Ovarian serous cystadenocarcinoma(108;0.00557)|BRCA - Breast invasive adenocarcinoma(234;0.00971)	Glutathione(DB00143)	GACGGACATACTTGAGACTGTT	0.52													T	65406519	-	T	65406518	7	5	650	1	0	1	1	0	0	0	0	0	6795	564	20	0	315	0	GPX2	14	65406518	Frame_Shift_Ins	INS	-	TCGA-P5-A731-01A-11D-A32B-08		65406518	41943022	17	52164											
FUT8	2530	broad.mit.edu	37	chr14	66208905	66208905	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctactattttgggggccAgaatgcccacaatcaaattg	12	11	8	10	0	2	1	1	0	1	1	2	1	2	1	2	2	2	0	2	2	5	5			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr14:66208905A>G	ENST00000360689.5	+	11	3232	c.1505A>G	c.(1504-1506)cAg>cGg	p.Q502R	FUT8_ENST00000394585.1_Missense_Mutation_p.Q502R|FUT8_ENST00000417683.1_Missense_Mutation_p.Q96R|FUT8_ENST00000358307.2_Missense_Mutation_p.Q373R|FUT8_ENST00000557164.1_Missense_Mutation_p.Q339R|FUT8_ENST00000394586.2_Missense_Mutation_p.Q502R	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	502	SH3.				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		TTTGGGGGCCAGAATGCCCAC	0.438													G	66208905	A	G	66208905	3	3	650	1	0	0	0	0	1	0	0	0	6162	188	7	3	1638	3	FUT8	14	66208905	Missense_Mutation	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	802387	66208905	41140635	18	52165											
TLE3	7090	broad.mit.edu	37	chr15	70347560	70347560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccgggcgtgcctcgggatgCcggggcctgccagggcgtcg	2	5	20	14	6	0	0	0	0	0	0	2	1	0	1	5	5	3	0	5	5	0	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:70347560C>T	ENST00000558939.1	-	15	2792	c.1415G>A	c.(1414-1416)gGc>gAc	p.G472D	TLE3_ENST00000317509.8_Missense_Mutation_p.G460D|TLE3_ENST00000558379.1_Missense_Mutation_p.G467D|TLE3_ENST00000558201.1_Missense_Mutation_p.G478D|TLE3_ENST00000559929.1_Missense_Mutation_p.G482D|TLE3_ENST00000440567.3_Missense_Mutation_p.G462D|TLE3_ENST00000451782.2_Missense_Mutation_p.G469D|TLE3_ENST00000560939.1_Missense_Mutation_p.G474D|TLE3_ENST00000557907.1_Missense_Mutation_p.G464D|TLE3_ENST00000557997.1_Missense_Mutation_p.G464D|TLE3_ENST00000559048.1_Missense_Mutation_p.G472D|TLE3_ENST00000559191.1_Missense_Mutation_p.G53D|TLE3_ENST00000539550.1_Missense_Mutation_p.G399D|TLE3_ENST00000442299.2_Missense_Mutation_p.G464D|TLE3_ENST00000560589.1_Missense_Mutation_p.G416D	NM_001282979.1|NM_001282980.1|NM_001282981.1	NP_001269908.1|NP_001269909.1|NP_001269910.1	Q04726	TLE3_HUMAN	transducin-like enhancer of split 3 (E(sp1) homolog, Drosophila)	472					organ morphogenesis|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CCTCGGGATGCCGGGGCCTGC	0.637													T	70347560	C	T	70347560	3	4	650	1	0	0	0	0	1	0	0	0	16040	739	26	2	927	2	TLE3	15	70347560	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		70347560	32183832	19	52166											
TMC3	342125	broad.mit.edu	37	chr15	81627192	81627192	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccactcttgctgctcccTgagtcaaaatgggccacgtt	7	11	9	14	1	2	1	1	1	1	0	3	1	3	1	3	1	3	3	3	1	2	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr15:81627192T>C	ENST00000558726.1	-	21	2466	c.2331A>G	c.(2329-2331)tcA>tcG	p.S777S	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559781.1_RNA|TMC3_ENST00000359440.5_Silent_p.S776S			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	776						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						TGCTGCTCCCTGAGTCAAAAT	0.607													C	81627192	T	C	81627192	2	2	650	1	0	0	0	0	0	0	0	1	16086	1567	55	3		3	TMC3	15	81627192	Silent	SNP	T	TCGA-P5-A731-01A-11D-A32B-08	11279632	81627192	20904200	20	52167											
CMIP	80790	broad.mit.edu	37	chr16	81735339	81735339	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagatcatctcaaccctggaGagcacagacgtggggaagcg	12	5	13	11	2	2	3	2	0	1	3	3	5	2	4	1	3	3	1	1	3	2	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr16:81735339G>C	ENST00000537098.3	+	16	1902	c.1830G>C	c.(1828-1830)gaG>gaC	p.E610D	CMIP_ENST00000566513.1_3'UTR|CMIP_ENST00000398040.4_Missense_Mutation_p.E457D|CMIP_ENST00000539778.2_Missense_Mutation_p.E516D	NM_198390.2	NP_938204.2	Q8IY22	CMIP_HUMAN	c-Maf inducing protein	576						cytoplasm|nucleus				endometrium(5)|kidney(1)|lung(7)	13						CAACCCTGGAGAGCACAGACG	0.587													C	81735339	G	C	81735339	3	2	650	1	0	0	0	0	1	0	0	0	3609	933	33	4	1914	4	CMIP	16	81735339	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		81735339	8619414	21	52168											
MYH8	4626	broad.mit.edu	37	chr17	10298604	10298604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaatctctgcatccagcGtgctctgcattgtctccacg	6	14	7	14	2	4	0	0	0	4	0	7	0	5	0	2	0	4	3	2	0	1	3			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:10298604G>A	ENST00000403437.2	-	34	4902	c.4808C>T	c.(4807-4809)aCg>aTg	p.T1603M	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1603					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCATCCAGCGTGCTCTGCAT	0.428									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10298604	G	A	10298604	3	1	650	1	0	0	0	0	1	0	0	0	10117	1145	40	1	1033	1	MYH8	17	10298604	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08		10298604	70896606	22	52169											
MRPS23	51649	broad.mit.edu	37	chr17	55918578	55918578	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagtttggattgaataGatcaaaagctctttgaccag	13	13	9	6	0	2	4	1	3	1	1	2	5	2	5	1	1	1	2	1	1	5	5			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr17:55918578G>T	ENST00000313608.8	-	3	304	c.259C>A	c.(259-261)Cta>Ata	p.L87I	MRPS23_ENST00000578444.1_Missense_Mutation_p.L87I	NM_016070.3	NP_057154.2	Q9Y3D9	RT23_HUMAN	mitochondrial ribosomal protein S23	87					translation	intermediate filament cytoskeleton|mitochondrion|nuclear membrane|ribosome	structural constituent of ribosome			endometrium(2)|large_intestine(1)|lung(2)	5	Breast(9;8.75e-08)					GGATTGAATAGATCAAAAGCT	0.323													T	55918578	G	T	55918578	3	4	650	1	0	0	0	0	1	0	0	0	9910	933	33	4	325	4	MRPS23	17	55918578	Missense_Mutation	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	45619974	55918578	25276632	23	52170											
ZNF569	148266	broad.mit.edu	37	chr19	37903535	37903535	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctctggtgtctaacaaggtgCgacttttggctgaaagcctt	8	13	11	9	1	2	1	0	1	2	0	2	2	2	1	1	3	3	1	1	3	3	4			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:37903535C>T	ENST00000316950.6	-	6	2582	c.2025G>A	c.(2023-2025)tcG>tcA	p.S675S	ZNF569_ENST00000392149.2_Silent_p.S675S|ZNF569_ENST00000392150.2_Silent_p.S516S	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	675					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TAACAAGGTGCGACTTTTGGC	0.408													T	37903535	C	T	37903535	2	4	650	1	0	0	0	0	0	0	0	1	18101	755	27	1		1	ZNF569	19	37903535	Silent	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		37903535	21225448	24	52171											
CEACAM6	4680	broad.mit.edu	37	chr19	42259554	42259554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gacagcagagaccatgggacCcccctcagcccctccctgca	9	4	9	19	0	1	1	1	0	0	1	2	4	2	2	7	1	3	2	7	1	0	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr19:42259554C>T	ENST00000199764.6	+	1	226	c.8C>T	c.(7-9)cCc>cTc	p.P3L	CEA_ENST00000598976.1_Intron	NM_002483.4	NP_002474.3	P40199	CEAM6_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 6 (non-specific cross reacting antigen)	3					cell-cell signaling|signal transduction	anchored to membrane|integral to plasma membrane				breast(1)|kidney(4)|large_intestine(1)|lung(4)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.00575)|all cancers(3;0.0352)|Epithelial(262;0.0797)		ACCATGGGACCCCCCTCAGCC	0.612													T	42259554	C	T	42259554	3	4	650	1	0	0	0	0	1	0	0	0	3226	623	22	2	10	2	CEACAM6	19	42259554	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08	4356019	42259554	16869429	25	52172											
NDRG3	57446	broad.mit.edu	37	chr20	35293669	35293669	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgatttgttatcattttggCccagtatgggtctttcgatc	6	19	9	7	1	2	1	1	1	1	0	4	2	2	1	1	2	0	2	1	2	2	7			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr20:35293669C>T	ENST00000373803.2	-	11	784	c.728G>A	c.(727-729)gGc>gAc	p.G243D	NDRG3_ENST00000359675.2_Missense_Mutation_p.G231D|NDRG3_ENST00000373773.3_Missense_Mutation_p.G148D|NDRG3_ENST00000349004.1_Missense_Mutation_p.G243D|NDRG3_ENST00000540765.1_Missense_Mutation_p.G139D			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	243					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				ATCATTTTGGCCCAGTATGGG	0.378													T	35293669	C	T	35293669	3	4	650	1	0	0	0	0	1	0	0	0	10329	739	26	2	423	2	NDRG3	20	35293669	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		35293669	27731851	26	52173											
RTDR1	27156	broad.mit.edu	37	chr22	23401783	23401783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccttgcggccctcgggggCctctgccagcatggtaaggg	4	7	17	13	2	1	0	0	0	1	0	2	0	1	0	4	6	3	2	4	6	1	2			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chr22:23401783C>T	ENST00000216036.4	-	7	1100	c.904G>A	c.(904-906)Gcc>Acc	p.A302T		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	302							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CCCTCGGGGGCCTCTGCCAGC	0.642													T	23401783	C	T	23401783	3	4	650	1	0	0	0	0	1	0	0	0	13810	739	26	2	146	2	RTDR1	22	23401783	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		23401783	27902783	27	52174											
FAM47C	442444	broad.mit.edu	37	chrX	37027114	37027114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactccggtgtccagtctcCgcccggagcctccagagact	7	7	11	16	3	1	2	0	0	1	2	5	4	4	3	6	2	1	0	6	2	0	0	rs143691874		TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:37027114C>T	ENST00000358047.3	+	1	683	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	211										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCCAGTCTCCGCCCGGAGCC	0.647													T	37027114	C	T	37027114	3	4	650	1	0	0	0	0	1	0	0	0	5622	652	23	1	633	1	FAM47C	23	37027114	Missense_Mutation	SNP	C	TCGA-P5-A731-01A-11D-A32B-08		37027114	118243446	28	52175											
HUWE1	10075	broad.mit.edu	37	chrX	53579402	53579402	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagaggatgcaggtggggaGctgagggaaatcatgctcag	11	7	17	6	0	3	2	3	1	0	1	3	5	3	5	0	5	3	3	0	5	1	0			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:53579402G>C	ENST00000342160.3	-	62	9208	c.8751C>G	c.(8749-8751)agC>agG	p.S2917R	HUWE1_ENST00000262854.6_Splice_Site_p.S2917R			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	2917					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CAGGTGGGGAGCTGAGGGAAA	0.488													C	53579402	G	C	53579402	5	2	650	1	0	0	0	0	0	0	1	0	7519	985	34	4	4461	4	HUWE1	23	53579402	Splice_Site	SNP	G	TCGA-P5-A731-01A-11D-A32B-08	16552288	53579402	101691158	29	52176											
AGTR2	186	broad.mit.edu	37	chrX	115303787	115303787	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctagcatatacatcttcaAcctcgctgtggctgatttac	9	15	6	11	1	3	1	1	1	2	0	4	1	3	1	1	1	4	3	1	1	5	7			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:115303787A>G	ENST00000371906.4	+	3	444	c.254A>G	c.(253-255)aAc>aGc	p.N85S		NM_000686.4	NP_000677.2	P50052	AGTR2_HUMAN	angiotensin II receptor, type 2	85					behavior|blood vessel remodeling|brain development|G-protein signaling, coupled to cGMP nucleotide second messenger|intracellular protein kinase cascade|negative regulation of blood vessel endothelial cell migration|negative regulation of cell growth|negative regulation of heart rate|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of apoptosis|positive regulation of nitric-oxide synthase activity|positive regulation of phosphoprotein phosphatase activity|positive regulation of vasodilation|regulation of systemic arterial blood pressure by circulatory renin-angiotensin		angiotensin type II receptor activity|receptor antagonist activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|skin(1)	24						TACATCTTCAACCTCGCTGTG	0.378													G	115303787	A	G	115303787	3	3	650	1	0	0	0	0	1	0	0	0	402	43	2	3	256	3	AGTR2	23	115303787	Missense_Mutation	SNP	A	TCGA-P5-A731-01A-11D-A32B-08	61724385	115303787	39966773	30	52177											
HPRT1	3251	broad.mit.edu	37	chrX	133627577	133627577	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacaatgcagactttgcttTccttggtcaggcagtataat	12	13	8	8	0	1	1	1	0	0	1	2	1	2	1	1	2	3	4	1	2	4	5			TCGA-P5-A731-01A-11D-A32B-08	TCGA-P5-A731-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2d7ae870-2665-4bb5-b7dc-3763198ab5ff	a08583ca-2b35-49fb-9256-367e144bc2c8	g.chrX:133627577T>C	ENST00000298556.7	+	6	601	c.442T>C	c.(442-444)Tcc>Ccc	p.S148P	HPRT1_ENST00000462974.1_3'UTR	NM_000194.2	NP_000185.1	P00492	HPRT_HUMAN	hypoxanthine phosphoribosyltransferase 1	148					adenine salvage|central nervous system neuron development|cerebral cortex neuron differentiation|cytolysis|dendrite morphogenesis|GMP catabolic process|GMP salvage|grooming behavior|guanine salvage|hypoxanthine salvage|IMP salvage|lymphocyte proliferation|positive regulation of dopamine metabolic process|protein homotetramerization|purine ribonucleoside salvage|response to amphetamine|striatum development	cytosol	guanine phosphoribosyltransferase activity|hypoxanthine phosphoribosyltransferase activity|magnesium ion binding|nucleotide binding|protein homodimerization activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)	9	Acute lymphoblastic leukemia(192;0.000127)				Mercaptopurine(DB01033)|Thioguanine(DB00352)	GACTTTGCTTTCCTTGGTCAG	0.353													C	133627577	T	C	133627577	3	2	650	1	0	0	0	0	1	0	0	0	7393	1783	62	3	464	3	HPRT1	23	133627577	Missense_Mutation	SNP	T	TCGA-P5-A731-01A-11D-A32B-08	18323790	133627577	21642983	31	52178											
DFFA	1676	broad.mit.edu	37	chr1	10523191	10523191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taaggatgtggctcgccagcGcaacgtccgaggaggtctct	8	8	14	11	4	1	0	0	0	1	0	4	3	2	2	2	4	2	2	2	4	2	1	rs142954972	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:10523191G>A	ENST00000377038.3	-	5	774	c.707C>T	c.(706-708)gCg>gTg	p.A236V	DFFA_ENST00000377036.2_Missense_Mutation_p.A236V	NM_004401.2	NP_004392.1	O00273	DFFA_HUMAN	DNA fragmentation factor, 45kDa, alpha polypeptide	236					DNA fragmentation involved in apoptotic nuclear change|intracellular signal transduction|negative regulation of apoptosis	cytosol|mitochondrion|nucleoplasm|plasma membrane	deoxyribonuclease activity|identical protein binding			large_intestine(3)|lung(2)	5	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.25e-07)|COAD - Colon adenocarcinoma(227;7.25e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000296)|Kidney(185;0.00074)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.0167)|READ - Rectum adenocarcinoma(331;0.0487)		GCTCGCCAGCGCAACGTCCGA	0.562													A	10523191	G	A	10523191	3	1	651	1	0	0	0	0	1	0	0	0	4491	1087	38	1	320	1	DFFA	1	10523191	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		10523191	238727430	1	52179											
PABPC4	8761	broad.mit.edu	37	chr1	40027846	40027846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccagccagatttgaatgcaTtgtttggatgagtgggaaca	11	11	12	7	0	0	3	0	2	0	1	0	5	0	5	2	2	3	2	2	2	2	3	rs141368472		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:40027846T>C	ENST00000372857.3	-	14	2536	c.1744A>G	c.(1744-1746)Atg>Gtg	p.M582V	PABPC4_ENST00000372858.3_Missense_Mutation_p.M598V|PABPC4_ENST00000372862.3_Missense_Mutation_p.M553V|PABPC4_ENST00000372856.3_Missense_Mutation_p.M569V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	582	PABC.				blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding	p.M582V(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			TTTGAATGCATTGTTTGGATG	0.473													C	40027846	T	C	40027846	3	2	651	1	0	0	0	0	1	0	0	0	11442	1493	52	3	198	3	PABPC4	1	40027846	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	29504655	40027846	209222775	2	52180											
IPP	3652	broad.mit.edu	37	chr1	46184897	46184898	+	Frame_Shift_Del	DEL	AC	AC	-																															aaagcatagatagccccataAcacacacacactcctaagcc																										TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:46184897_46184898delAC	ENST00000396478.3	-	6	1265_1266	c.1163_1164delGT	c.(1162-1164)tgtfs	p.C388fs		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	388						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TAGCCCCATAACACACACACAC	0.347													-	46184898	AC	-	46184897	7	5	651	1	0	1	0	1	0	0	0	0	7858	41	2	0	708	0	IPP	1	46184897	Frame_Shift_Del	DEL	AC	TCGA-P5-A733-01A-11D-A32B-08	6157051	46184897	203065724	3	52181											
NBPF9	400818	broad.mit.edu	37	chr1	144816613	144816613	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatttgaggaagacaaagTcgactcaactctcattggct	13	10	8	10	1	2	2	2	1	1	1	4	4	2	3	0	2	1	1	0	2	3	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:144816613T>C	ENST00000440491.2	+	5	746	c.746T>C	c.(745-747)gTc>gCc	p.V249A	NBPF9_ENST00000338347.4_Missense_Mutation_p.V249A|NBPF9_ENST00000281815.8_5'UTR|NBPF9_ENST00000468645.1_3'UTR	NM_001037675.2	NP_001032764.2			neuroblastoma breakpoint family, member 9											NS(2)|prostate(1)	3						GAAGACAAAGTCGACTCAACT	0.443													C	144816613	T	C	144816613	3	2	651	1	0	0	0	0	1	0	0	0	10275	1667	58	3	1556	3	NBPF9	1	144816613	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	98631716	144816613	104434008	4	52182											
KLHDC9	126823	broad.mit.edu	37	chr1	161070000	161070000	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtccacaggtttgcatcCtggactttatctaaatagtg	10	13	8	10	0	1	0	0	0	1	0	3	1	3	1	3	2	1	2	3	2	4	5			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:161070000C>T	ENST00000368011.4	+	4	1178	c.1036C>T	c.(1036-1038)Ctg>Ttg	p.L346L	KLHDC9_ENST00000392192.2_3'UTR|KLHDC9_ENST00000490724.2_3'UTR	NM_152366.4	NP_689579.3	Q8NEP7	KLDC9_HUMAN	kelch domain containing 9	346										lung(5)|upper_aerodigestive_tract(1)	6	all_cancers(52;1.28e-19)|Breast(13;0.00188)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00165)			GGTTTGCATCCTGGACTTTAT	0.473													T	161070000	C	T	161070000	2	4	651	1	0	0	0	0	0	0	0	1	8422	680	24	2		2	KLHDC9	1	161070000	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	16253387	161070000	88180621	5	52183											
H3F3A	3020	broad.mit.edu	37	chr1	226252070	226252070	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accatggctcgtacaaagcaGactgcccgcaaatcgaccgg	12	5	10	14	4	0	1	0	0	0	1	2	2	0	1	3	2	3	4	3	2	3	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr1:226252070G>A	ENST00000366814.3	+	2	139	c.18G>A	c.(16-18)caG>caA	p.Q6Q	H3F3A_ENST00000366813.1_Silent_p.Q6Q|H3F3A_ENST00000366816.1_Silent_p.Q6Q|H3F3A_ENST00000366815.3_Silent_p.Q6Q					H3 histone, family 3A											central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GTACAAAGCAGACTGCCCGCA	0.488			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	226252070	G	A	226252070	2	1	651	1	0	0	0	0	0	0	0	1	6988	933	33	2		2	H3F3A	1	226252070	Silent	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	65182070	226252070	22998551	6	52184											
GREB1	9687	broad.mit.edu	37	chr2	11716615	11716615	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattacctggtccgtaatgcAcaagggactctaaccaaagg	13	9	9	10	1	1	0	0	0	1	0	2	1	2	1	3	3	3	2	3	3	6	4			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:11716615A>G	ENST00000381486.2	+	5	891	c.591A>G	c.(589-591)gcA>gcG	p.A197A	GREB1_ENST00000234142.5_Silent_p.A197A|GREB1_ENST00000389825.3_Silent_p.A87A|GREB1_ENST00000263834.5_Silent_p.A197A|GREB1_ENST00000381483.2_Silent_p.A197A	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	197						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCCGTAATGCACAAGGGACTC	0.488													G	11716615	A	G	11716615	2	3	651	1	0	0	0	0	0	0	0	1	6815	146	6	3		3	GREB1	2	11716615	Silent	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		11716615	231482758	7	52185											
TRIM54	57159	broad.mit.edu	37	chr2	27505613	27505613	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggggatgaacttcacagTgggtttcaagccgctgctag	9	9	14	9	2	2	1	2	1	0	0	2	3	2	2	1	3	3	3	1	3	3	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:27505613T>G	ENST00000296098.4	+	1	284	c.14T>G	c.(13-15)gTg>gGg	p.V5G	TRIM54_ENST00000380075.2_Missense_Mutation_p.V5G	NM_032546.3	NP_115935.3	Q9BYV2	TRI54_HUMAN	tripartite motif containing 54	5					cell differentiation|microtubule-based process|multicellular organismal development|negative regulation of microtubule depolymerization	microtubule|sarcomere	signal transducer activity|zinc ion binding			cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AACTTCACAGTGGGTTTCAAG	0.592													G	27505613	T	G	27505613	3	3	651	1	0	0	0	0	1	0	0	0	16629	1696	59	5	16	5	TRIM54	2	27505613	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	15788998	27505613	215693760	8	52186											
MGAT4A	11320	broad.mit.edu	37	chr2	99279513	99279513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acaattaaataattacctctCctatgaagactactataaca	18	12	2	9	0	1	2	0	1	1	1	2	2	1	2	2	0	3	0	2	0	10	7			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:99279513C>T	ENST00000264968.3	-	4	896	c.533G>A	c.(532-534)gGa>gAa	p.G178E	MGAT4A_ENST00000414521.2_Missense_Mutation_p.G50E|MGAT4A_ENST00000409391.1_Missense_Mutation_p.G178E|MGAT4A_ENST00000461884.1_5'UTR|MGAT4A_ENST00000393487.1_Missense_Mutation_p.G178E			Q9UM21	MGT4A_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme A						N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	extracellular region|Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|stomach(1)	19						AATTACCTCTCCTATGAAGAC	0.294													T	99279513	C	T	99279513	3	4	651	1	0	0	0	0	1	0	0	0	9620	855	30	2	1201	2	MGAT4A	2	99279513	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	71773900	99279513	143919860	9	52187											
DNAH7	56171	broad.mit.edu	37	chr2	196738409	196738409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcgaggagttactggatttCgaccaccacctaaatattaa	14	11	7	9	2	0	0	0	0	0	0	2	4	0	2	3	2	1	1	3	2	5	5			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:196738409C>T	ENST00000312428.6	-	39	6396	c.6296G>A	c.(6295-6297)cGa>cAa	p.R2099Q		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2099	AAA 3 (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TACTGGATTTCGACCACCACC	0.274													T	196738409	C	T	196738409	3	4	651	1	0	0	0	0	1	0	0	0	4645	884	31	1	5886	1	DNAH7	2	196738409	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	97458896	196738409	46460964	10	52188											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	651	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	12374703	209113112	34086261	11	52189											
NEU2	4759	broad.mit.edu	37	chr2	233899291	233899291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggagtgccaggtggccGaagtcgagactggggagcag	8	5	18	10	2	0	1	0	0	0	1	1	5	0	3	3	5	2	1	3	5	1	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr2:233899291G>A	ENST00000233840.3	+	2	667	c.667G>A	c.(667-669)Gaa>Aaa	p.E223K		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	223							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		CCAGGTGGCCGAAGTCGAGAC	0.652													A	233899291	G	A	233899291	3	1	651	1	0	0	0	0	1	0	0	0	10418	1059	37	1	673	1	NEU2	2	233899291	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	24786179	233899291	9300082	12	52190											
DNAH12	201625	broad.mit.edu	37	chr3	57489762	57489762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgcagagcttcggctattCgttccaccaaactcaagaca	11	9	7	14	2	1	2	1	0	0	2	4	2	2	2	3	1	3	4	3	1	3	4			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:57489762C>T	ENST00000351747.2	-	9	1247	c.1067G>A	c.(1066-1068)cGa>cAa	p.R356Q	DNAH12_ENST00000311202.6_Missense_Mutation_p.R356Q|DNAH12_ENST00000389536.4_Missense_Mutation_p.R356Q	NM_178504.4	NP_848599.3	Q6ZR08	DYH12_HUMAN	dynein, axonemal, heavy chain 12	356	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|prostate(1)|skin(1)	25						TTCGGCTATTCGTTCCACCAA	0.338													T	57489762	C	T	57489762	3	4	651	1	0	0	0	0	1	0	0	0	4639	884	31	1	8458	1	DNAH12	3	57489762	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		57489762	140532668	13	52191											
KBTBD8	84541	broad.mit.edu	37	chr3	67054666	67054666	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattgttggacgactgtttgCgcgatgccagttgcaatgga	9	12	13	7	3	0	0	0	0	0	0	0	4	0	2	1	2	3	4	1	2	2	4			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:67054666C>T	ENST00000295568.4	+	3	1328	c.1197C>T	c.(1195-1197)tgC>tgT	p.C399C	KBTBD8_ENST00000460576.1_Intron|KBTBD8_ENST00000417314.2_Silent_p.C425C	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	425										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		CGACTGTTTGCGCGATGCCAG	0.413													T	67054666	C	T	67054666	2	4	651	1	0	0	0	0	0	0	0	1	8057	776	27	1		1	KBTBD8	3	67054666	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	9564904	67054666	130967764	14	52192											
TF	7018	broad.mit.edu	37	chr3	133495949	133495949	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacttttgtttgttccggtcGgaaaccaaggaccttctgtt	8	15	9	9	2	1	0	0	0	1	0	3	2	2	2	3	3	2	3	3	3	3	6			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr3:133495949G>A	ENST00000402696.3	+	16	2414	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	TF_ENST00000264998.3_Silent_p.S516S	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	643	Transferrin-like 2.				cellular iron ion homeostasis|platelet activation|platelet degranulation|transferrin transport|transmembrane transport	apical plasma membrane|basal plasma membrane|coated pit|early endosome|endocytic vesicle|endosome membrane|extracellular region|late endosome|perinuclear region of cytoplasm|recycling endosome|stored secretory granule	ferric iron binding			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth(DB01402)|Iron Dextran(DB00893)	TGTTCCGGTCGGAAACCAAGG	0.433													A	133495949	G	A	133495949	2	1	651	1	0	0	0	0	0	0	0	1	15885	1103	39	1		1	TF	3	133495949	Silent	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	66441283	133495949	64526481	15	52193											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99339851	99339851	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacaatgggattgtagaaaaActtatggatttactggacag	15	11	11	4	0	0	1	0	0	0	1	0	5	0	4	0	3	2	1	0	3	6	5			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr4:99339851A>C	ENST00000408927.3	+	10	1196	c.1083A>C	c.(1081-1083)aaA>aaC	p.K361N	RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.K270N|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.K312N|RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.K362N|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.K313N	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	361							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTGTAGAAAAACTTATGGATT	0.343			T	NUP98	T-ALL								C	99339851	A	C	99339851	3	2	651	1	0	0	0	0	1	0	0	0	13127	40	2	5	1124	5	RAP1GDS1	4	99339851	Missense_Mutation	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		99339851	91814425	16	52194											
GZMA	3001	broad.mit.edu	37	chr5	54403737	54403737	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgctatgacccagccacaCgcgaaggtgaccttaaactt	12	8	8	13	2	0	2	0	2	0	0	0	3	0	2	3	1	3	1	3	1	4	3	rs150441571	byFrequency	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:54403737C>T	ENST00000274306.6	+	3	366	c.331C>T	c.(331-333)Cgc>Tgc	p.R111C		NM_006144.3	NP_006135	P12544	GRAA_HUMAN	granzyme A (granzyme 1, cytotoxic T-lymphocyte-associated serine esterase 3)	111	Peptidase S1.				cleavage of lamin|cytolysis|immune response|negative regulation of DNA binding|negative regulation of endodeoxyribonuclease activity|negative regulation of oxidoreductase activity|positive regulation of apoptosis	extracellular region|immunological synapse|nucleus	protein homodimerization activity|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	25		Lung NSC(810;4.08e-05)|Breast(144;0.0433)|Prostate(74;0.183)				CCCAGCCACACGCGAAGGTGA	0.443													T	54403737	C	T	54403737	3	4	651	1	0	0	0	0	1	0	0	0	6970	536	19	1	341	1	GZMA	5	54403737	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		54403737	126511523	17	52195											
ZNF366	167465	broad.mit.edu	37	chr5	71756905	71756905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccaaagtgttccaggctgCggtagaattggaagcccacg	10	7	12	12	2	0	1	0	0	0	1	1	2	1	2	4	3	2	3	4	3	4	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr5:71756905C>T	ENST00000318442.5	-	2	909	c.419G>A	c.(418-420)cGc>cAc	p.R140H		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	140					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.R140H(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		TTCCAGGCTGCGGTAGAATTG	0.632													T	71756905	C	T	71756905	3	4	651	1	0	0	0	0	1	0	0	0	17971	768	27	1	1831	1	ZNF366	5	71756905	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	17353168	71756905	109158355	18	52196											
ZNF292	23036	broad.mit.edu	37	chr6	87968469	87968469	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtaaaagagaatttcaaaAccagtcttgagtcccataca	17	10	6	8	0	2	2	1	1	1	1	3	3	3	2	2	0	2	1	2	0	6	4			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:87968469A>T	ENST00000369577.3	+	8	5165	c.5122A>T	c.(5122-5124)Acc>Tcc	p.T1708S	ZNF292_ENST00000339907.4_Missense_Mutation_p.T1703S	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1708					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GAATTTCAAAACCAGTCTTGA	0.328													T	87968469	A	T	87968469	3	4	651	1	0	0	0	0	1	0	0	0	17927	43	2	5	5152	5	ZNF292	6	87968469	Missense_Mutation	SNP	A	TCGA-P5-A733-01A-11D-A32B-08		87968469	83146598	19	52197											
AHI1	54806	broad.mit.edu	37	chr6	135784396	135784399	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															gaaactgatctaactgaagaTtctttcttttgttcaccttc																										TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr6:135784396_135784399delTTCT	ENST00000367800.4	-	6	1011_1014	c.795_798delAGAA	c.(793-798)aaagaafs	p.KE265fs	AHI1_ENST00000327035.6_Frame_Shift_Del_p.KE265fs|AHI1_ENST00000457866.2_Frame_Shift_Del_p.KE265fs	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	265						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		TAACTGAAGATTCTTTCTTTTGTT	0.328													-	135784399	TTCT	-	135784396	7	5	651	1	0	1	0	1	0	0	0	0	413	1490	52	0	2937	0	AHI1	6	135784396	Frame_Shift_Del	DEL	TTCT	TCGA-P5-A733-01A-11D-A32B-08	47815927	135784396	35330671	20	52198											
AUTS2	26053	broad.mit.edu	37	chr7	69364410	69364410	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccacccacaccactacagcTcagatcgagaaaatgaccgc	14	4	7	16	2	1	3	1	1	0	2	2	4	1	3	4	0	2	1	4	0	3	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr7:69364410T>G	ENST00000342771.4	+	2	769	c.448T>G	c.(448-450)Tca>Gca	p.S150A	AUTS2_ENST00000403018.2_Missense_Mutation_p.S150A|AUTS2_ENST00000406775.2_Missense_Mutation_p.S150A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	150										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		CCACTACAGCTCAGATCGAGA	0.512													G	69364410	T	G	69364410	3	3	651	1	0	0	0	0	1	0	0	0	1230	1551	54	5	454	5	AUTS2	7	69364410	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		69364410	89774253	21	52199											
PLEC	5339	broad.mit.edu	37	chr8	144992998	144992998	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgccctcccggagcaggTtgtaggtctcgagagagatg	7	9	16	9	2	1	2	0	0	1	2	3	5	2	3	2	4	2	3	2	4	1	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr8:144992998T>C	ENST00000322810.4	-	32	11571	c.11402A>G	c.(11401-11403)aAc>aGc	p.N3801S	PLEC_ENST00000357649.2_Missense_Mutation_p.N3668S|PLEC_ENST00000436759.2_Missense_Mutation_p.N3691S|PLEC_ENST00000354589.3_Missense_Mutation_p.N3664S|PLEC_ENST00000345136.3_Missense_Mutation_p.N3664S|PLEC_ENST00000356346.3_Missense_Mutation_p.N3650S|PLEC_ENST00000398774.2_Missense_Mutation_p.N3632S|PLEC_ENST00000527096.1_Missense_Mutation_p.N3687S|PLEC_ENST00000354958.2_Missense_Mutation_p.N3642S	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3801	Globular 2.				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CCGGAGCAGGTTGTAGGTCTC	0.657													C	144992998	T	C	144992998	3	2	651	1	0	0	0	0	1	0	0	0	12129	1725	60	3	2656	3	PLEC	8	144992998	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		144992998	1371024	22	52200											
IDI1	3422	broad.mit.edu	37	chr10	1089303	1089305	+	In_Frame_Del	DEL	AAG	AAG	-																															gcttattttcggtgttgaatAagaagacactaaaagctcga																										TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr10:1089303_1089305delAAG	ENST00000381344.3	-	3	508_510	c.342_344delCTT	c.(340-345)ttctta>tta	p.F114del	IDI2-AS1_ENST00000428780.2_RNA|IDI1_ENST00000491735.1_5'UTR|IDI2-AS1_ENST00000437374.1_RNA|IDI2-AS1_ENST00000536039.1_RNA|IDI2-AS1_ENST00000420381.1_RNA	NM_004508.2	NP_004499.2	Q13907	IDI1_HUMAN	isopentenyl-diphosphate delta isomerase 1	57	Nudix hydrolase.				carotenoid biosynthetic process|cholesterol biosynthetic process	cytosol|peroxisome	hydrolase activity|isopentenyl-diphosphate delta-isomerase activity|metal ion binding			large_intestine(3)|lung(2)|prostate(1)	6		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.221)	Epithelial(11;0.0972)		GGTGTTGAATAAGAAGACACTAA	0.34													-	1089305	AAG	-	1089303	7	5	651	1	0	1	0	1	0	0	0	0	7557	372	13	0	522	0	IDI1	10	1089303	In_Frame_Del	DEL	AAG	TCGA-P5-A733-01A-11D-A32B-08		1089303	134445444	23	52201											
ANO3	63982	broad.mit.edu	37	chr11	26569051	26569051	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcaattgttggtttgTgcgttttcttctatggatta	6	19	10	6	1	2	0	0	0	2	0	2	1	2	1	0	2	3	5	0	2	3	8			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr11:26569051T>C	ENST00000256737.3	+	12	2095	c.1243T>C	c.(1243-1245)Tgc>Cgc	p.C415R	ANO3_ENST00000537978.1_Missense_Mutation_p.C399R|ANO3_ENST00000529242.1_3'UTR|ANO3_ENST00000531568.1_Missense_Mutation_p.C269R|ANO3_ENST00000525139.1_Missense_Mutation_p.C399R	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	415						chloride channel complex	chloride channel activity			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						TGTTGGTTTGTGCGTTTTCTT	0.368													C	26569051	T	C	26569051	3	2	651	1	0	0	0	0	1	0	0	0	698	1696	59	3	1289	3	ANO3	11	26569051	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08		26569051	108437465	24	52202											
VWF	7450	broad.mit.edu	37	chr12	6128017	6128017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	atccatccgctgaatcacctCctccatgaactccttgctcc	8	11	4	18	1	1	2	1	2	0	0	7	2	7	2	7	0	2	2	7	0	2	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:6128017C>T	ENST00000261405.5	-	28	4821	c.4567G>A	c.(4567-4569)Gag>Aag	p.E1523K		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	1523	VWFA 2.				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TGAATCACCTCCTCCATGAAC	0.557													T	6128017	C	T	6128017	3	4	651	1	0	0	0	0	1	0	0	0	17348	864	30	2	3974	2	VWF	12	6128017	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		6128017	127723878	25	52203											
COL2A1	1280	broad.mit.edu	37	chr12	48372074	48372074	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagggataccccacactcacCgacgggccaggcaagccagg	11	2	13	15	2	1	0	1	0	0	0	1	3	1	1	5	4	2	1	5	4	2	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:48372074C>T	ENST00000380518.3	-	43	3167	c.3003G>A	c.(3001-3003)tcG>tcA	p.S1001S	COL2A1_ENST00000337299.6_Splice_Site_p.S932S|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	1001	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CCACACTCACCGACGGGCCAG	0.642													T	48372074	C	T	48372074	5	4	651	1	0	0	0	0	0	0	1	0	3718	666	23	1	1508	1	COL2A1	12	48372074	Splice_Site	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	42244057	48372074	85479821	26	52204											
EP400	57634	broad.mit.edu	37	chr12	132549242	132549242	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaaatgcagaagcagaaActgcagatgcccccgcagcc	15	4	9	13	1	1	3	1	0	0	3	1	3	1	3	3	0	6	4	3	0	4	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr12:132549242A>G	ENST00000333577.4	+	49	8581	c.8472A>G	c.(8470-8472)aaA>aaG	p.K2824K	EP400_ENST00000332482.4_Silent_p.K2751K|EP400_ENST00000330386.6_Silent_p.K2707K|EP400_ENST00000389561.2_Silent_p.K2788K|EP400_ENST00000389562.2_Silent_p.K2787K			Q96L91	EP400_HUMAN	E1A binding protein p400	2824					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		AGAAGCAGAAACTGCAGATGC	0.542													G	132549242	A	G	132549242	2	3	651	1	0	0	0	0	0	0	0	1	5190	40	2	3		3	EP400	12	132549242	Silent	SNP	A	TCGA-P5-A733-01A-11D-A32B-08	84177168	132549242	1302653	27	52205											
MYH7	4625	broad.mit.edu	37	chr14	23886878	23886878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctcagcttcctgcagcCgctgggccagcttcttcctg	3	11	9	18	1	2	0	1	0	1	0	5	0	5	0	6	1	4	4	6	1	0	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:23886878C>T	ENST00000355349.3	-	31	4349	c.4187G>A	c.(4186-4188)cGg>cAg	p.R1396Q		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1396					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TTCCTGCAGCCGCTGGGCCAG	0.587													T	23886878	C	T	23886878	3	4	651	1	0	0	0	0	1	0	0	0	10115	652	23	1	1660	1	MYH7	14	23886878	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		23886878	83462662	28	52206											
VSX2	338917	broad.mit.edu	37	chr14	74727463	74727463	+	Frame_Shift_Del	DEL	C	C	-																															gagaacagcattgcggtgctCcgggccaaagctcaggagca																										TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr14:74727463delC	ENST00000261980.2	+	5	1017	c.927delC	c.(925-927)ctcfs	p.L309fs		NM_182894.2	NP_878314.1	P58304	VSX2_HUMAN	visual system homeobox 2	309					multicellular organismal development|response to stimulus|visual perception	nucleolus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7				BRCA - Breast invasive adenocarcinoma(234;0.00154)		TTGCGGTGCTCCGGGCCAAAG	0.662													-	74727463	C	-	74727463	7	5	651	1	0	1	0	1	0	0	0	0	17334	842	30	0	945	0	VSX2	14	74727463	Frame_Shift_Del	DEL	C	TCGA-P5-A733-01A-11D-A32B-08	50840585	74727463	32622077	29	52207											
ADCY9	115	broad.mit.edu	37	chr16	4165239	4165239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcgcagccggcctccgcCgcccactcgccgggggacgc	3	3	14	21	7	0	0	0	0	0	0	2	1	1	1	7	3	2	1	7	3	0	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:4165239C>T	ENST00000294016.3	-	2	743	c.205G>A	c.(205-207)Ggc>Agc	p.G69S		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	69					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCTCCGCCGCCCACTCGC	0.672													T	4165239	C	T	4165239	3	4	651	1	0	0	0	0	1	0	0	0	301	652	23	1	3896	1	ADCY9	16	4165239	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		4165239	86189514	30	52208											
MYH11	4629	broad.mit.edu	37	chr16	15870007	15870007	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctctcgtctctggcttggcGaattgcccgtgatttttcta	4	16	9	12	3	3	1	0	1	3	0	5	2	3	1	2	2	1	1	2	2	2	5			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:15870007G>A	ENST00000452625.2	-	9	925	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	MYH11_ENST00000396324.3_Missense_Mutation_p.R280C|MYH11_ENST00000576790.2_Missense_Mutation_p.R273C|MYH11_ENST00000300036.5_Missense_Mutation_p.R273C	NM_001040113.1	NP_001035202.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin head-like.				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						CTGGCTTGGCGAATTGCCCGT	0.488			T	CBFB	AML								A	15870007	G	A	15870007	3	1	651	1	0	0	0	0	1	0	0	0	10107	1058	37	1	5272	1	MYH11	16	15870007	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	11704768	15870007	74484746	31	52209											
SEZ6L2	26470	broad.mit.edu	37	chr16	29907101	29907101	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtaagtgcagtccaggagccCcagggtgcggctgacggggc	7	5	18	11	2	0	1	0	1	0	0	1	2	1	2	3	5	3	3	3	5	1	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr16:29907101C>G	ENST00000308713.5	-	4	1119	c.592G>C	c.(592-594)Ggg>Cgg	p.G198R	SEZ6L2_ENST00000346932.5_Intron|SEZ6L2_ENST00000350527.3_Missense_Mutation_p.G128R|SEZ6L2_ENST00000537485.1_Missense_Mutation_p.G154R|SEZ6L2_ENST00000562159.1_Intron	NM_001114099.2|NM_201575.3	NP_001107571.1|NP_963869.2	Q6UXD5	SE6L2_HUMAN	seizure related 6 homolog (mouse)-like 2	198	CUB 1.					endoplasmic reticulum membrane|integral to membrane|plasma membrane				breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TCCAGGAGCCCCAGGGTGCGG	0.547													G	29907101	C	G	29907101	3	3	651	1	0	0	0	0	1	0	0	0	14237	623	22	4	2239	4	SEZ6L2	16	29907101	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	14037094	29907101	60447652	32	52210											
TP53	7157	broad.mit.edu	37	chr17	7578400	7578400	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagcagcgctcatggtggGggcagcgcctcacaacctcc	7	6	13	15	2	2	1	2	1	0	0	3	1	3	1	3	3	4	3	3	3	1	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:7578400G>C	ENST00000420246.2	-	5	662	c.530C>G	c.(529-531)cCc>cGc	p.P177R	TP53_ENST00000359597.4_Missense_Mutation_p.P177R|TP53_ENST00000269305.4_Missense_Mutation_p.P177R|TP53_ENST00000413465.2_Missense_Mutation_p.P177R|TP53_ENST00000445888.2_Missense_Mutation_p.P177R|TP53_ENST00000455263.2_Missense_Mutation_p.P177R|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)		CTCATGGTGGGGGCAGCGCCT	0.647		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)			C	7578400	G	C	7578400	3	2	651	1	0	0	0	0	1	0	0	0	16482	1232	43	4	768	4	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		7578400	73616810	33	52211											
KSR1	8844	broad.mit.edu	37	chr17	25783779	25783779	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggccgcggccagccgggCgctgcagcagtgcgggcagc	5	2	20	14	5	0	0	0	0	0	0	0	0	0	0	3	5	5	4	3	5	0	0	rs143611966	by1000genomes	TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr17:25783779C>A	ENST00000319524.6	+	1	110	c.110C>A	c.(109-111)gCg>gAg	p.A37E	KSR1_ENST00000509603.2_Missense_Mutation_p.A37E			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	35					Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	p.A37E(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GCCAGCCGGGCGCTGCAGCAG	0.741													A	25783779	C	A	25783779	3	1	651	1	0	0	0	0	1	0	0	0	8640	783	27	4		4	KSR1	17	25783779	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	18205379	25783779	55411431	34	52212											
SH2D3A	10045	broad.mit.edu	37	chr19	6754940	6754940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttggggttccaggggccGattctgggggcccagcaggc	5	7	18	11	1	1	0	0	0	1	0	2	2	2	0	3	7	1	2	3	7	0	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr19:6754940G>A	ENST00000245908.6	-	5	1152	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W	SH2D3A_ENST00000437152.3_Missense_Mutation_p.R173W	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	295					JNK cascade|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						TCCAGGGGCCGATTCTGGGGG	0.592													A	6754940	G	A	6754940	3	1	651	1	0	0	0	0	1	0	0	0	14326	1057	37	1	871	1	SH2D3A	19	6754940	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08		6754940	52374043	35	52213											
SIRPB2	284759	broad.mit.edu	37	chr20	1460549	1460549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acgtttaaagttataaatttCctgttggtcctgagtgctca	10	16	8	7	1	1	1	1	1	0	0	3	1	3	1	2	1	1	4	2	1	5	6			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:1460549C>T	ENST00000359801.3	-	2	283	c.247G>A	c.(247-249)Gaa>Aaa	p.E83K	SIRPB2_ENST00000608747.1_Intron|SIRPB2_ENST00000537284.1_Intron|SIRPB2_ENST00000444444.2_Intron	NM_001122962.1	NP_001116434.1	Q5JXA9	SIRB2_HUMAN	signal-regulatory protein beta 2	83	Ig-like V-type 1.					integral to membrane				endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTATAAATTTCCTGTTGGTCC	0.463													T	1460549	C	T	1460549	3	4	651	1	0	0	0	0	1	0	0	0	14428	864	30	2	797	2	SIRPB2	20	1460549	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		1460549	61564971	36	52214											
FOXS1	2307	broad.mit.edu	37	chr20	30432875	30432875	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcccttgggatctggcagCtctggtgggaatgagcactg	7	9	16	9	0	2	1	0	1	2	0	2	3	2	3	1	5	2	3	1	5	1	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30432875C>T	ENST00000375978.3	-	1	545	c.471G>A	c.(469-471)gaG>gaA	p.E157E		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	157					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						GATCTGGCAGCTCTGGTGGGA	0.687													T	30432875	C	T	30432875	2	4	651	1	0	0	0	0	0	0	0	1	6086	796	28	2		2	FOXS1	20	30432875	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	28972326	30432875	32592645	37	52215											
HCK	3055	broad.mit.edu	37	chr20	30676404	30676404	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctttctgaaaagtgatgaggGcagcaagcagccattgccaa	13	8	11	9	0	1	3	0	3	1	0	1	3	1	3	2	1	4	3	2	1	4	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:30676404G>A	ENST00000534862.1	+	11	1352	c.989G>A	c.(988-990)gGc>gAc	p.G330D	HCK_ENST00000375852.2_Missense_Mutation_p.G350D|HCK_ENST00000518730.1_Missense_Mutation_p.G328D|HCK_ENST00000520553.1_Missense_Mutation_p.G329D|HCK_ENST00000538448.1_Missense_Mutation_p.G329D|HCK_ENST00000375862.2_Missense_Mutation_p.G349D	NM_001172132.1	NP_001165603.1	P08631	HCK_HUMAN	hemopoietic cell kinase	350	Protein kinase.				interspecies interaction between organisms|mesoderm development|regulation of defense response to virus by virus|viral reproduction	caveola|cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			NS(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(18)|ovary(2)|pancreas(1)|prostate(2)|skin(4)	36			UCEC - Uterine corpus endometrioid carcinoma (5;0.0241)			AGTGATGAGGGCAGCAAGCAG	0.438													A	30676404	G	A	30676404	3	1	651	1	0	0	0	0	1	0	0	0	7049	1203	42	2	1093	2	HCK	20	30676404	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	243529	30676404	32349116	38	52216											
GGT7	2686	broad.mit.edu	37	chr20	33439994	33439994	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggttagctgtccggttgggCcaggagaagtccagcatctg	7	10	15	9	1	1	1	0	0	1	1	3	2	3	1	3	4	2	4	3	4	2	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:33439994C>T	ENST00000336431.5	-	12	1595	c.1551G>A	c.(1549-1551)tgG>tgA	p.W517*	GGT7_ENST00000469018.1_5'UTR	NM_178026.2	NP_821158.2	Q9UJ14	GGT7_HUMAN	gamma-glutamyltransferase 7	517					glutathione biosynthetic process	integral to membrane	acyltransferase activity|gamma-glutamyltransferase activity			NS(2)|breast(1)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|skin(2)	20						TCCGGTTGGGCCAGGAGAAGT	0.617													T	33439994	C	T	33439994	4	4	651	1	0	0	0	0	0	1	0	0	6420	740	26	2	453	2	GGT7	20	33439994	Nonsense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	2763590	33439994	29585526	39	52217											
RALGAPB	57148	broad.mit.edu	37	chr20	37174929	37174929	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttcacctagtggtcctGcctctccttgtagtcttgtg	3	17	8	13	0	3	0	1	0	2	0	6	0	5	0	5	1	1	1	5	1	2	6			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr20:37174929G>T	ENST00000262879.6	+	19	3042	c.2758G>T	c.(2758-2760)Gcc>Tcc	p.A920S	RALGAPB_ENST00000397042.3_Missense_Mutation_p.A916S|RALGAPB_ENST00000397038.1_Missense_Mutation_p.A698S|RALGAPB_ENST00000397040.1_Missense_Mutation_p.A920S			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	920					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TAGTGGTCCTGCCTCTCCTTG	0.418													T	37174929	G	T	37174929	3	4	651	1	0	0	0	0	1	0	0	0	13103	1319	46	4	2828	4	RALGAPB	20	37174929	Missense_Mutation	SNP	G	TCGA-P5-A733-01A-11D-A32B-08	3734935	37174929	25850591	40	52218											
BAGE2	85319	broad.mit.edu	37	chr21	11058322	11058322	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttacaaaatgcacatCgctgaaaggggtaaaggaga	16	7	12	6	1	0	2	0	1	0	1	1	3	0	2	0	3	3	4	0	3	6	2			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr21:11058322C>T	ENST00000470054.1	-	0	325									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAATGCACATCGCTGAAAGGG	0.383													T	11058322	C	T	11058322	1	4	651	0	1	0	0	0	0	0	0	0	1297	898	31	1		1	BAGE2	21	11058322	RNA	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		11058322	37071573	41	52219											
PI4KA	5297	broad.mit.edu	37	chr22	21064202	21064202	+	Frame_Shift_Del	DEL	A	A	-																															accaaggaacctacttcaagAgcttgattgtctggccgcga																										TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chr22:21064202delA	ENST00000255882.6	-	53	6253	c.6167delT	c.(6166-6168)ctcfs	p.L2057fs	PI4KA_ENST00000572273.1_Frame_Shift_Del_p.L1999fs|PI4KA_ENST00000414196.3_Frame_Shift_Del_p.L809fs	NM_058004.3	NP_477352.3	P42356	PI4KA_HUMAN	phosphatidylinositol 4-kinase, catalytic, alpha	1999					phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling|synaptic transmission	Golgi-associated vesicle	1-phosphatidylinositol 4-kinase activity|ATP binding|protein binding			breast(3)|endometrium(8)|kidney(9)|large_intestine(19)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|salivary_gland(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	79	all_cancers(11;7.59e-25)|all_epithelial(7;1.34e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)			CTACTTCAAGAGCTTGATTGT	0.552													-	21064202	A	-	21064202	7	5	651	1	0	1	0	1	0	0	0	0	11950	304	11	0	153	0	PI4KA	22	21064202	Frame_Shift_Del	DEL	A	TCGA-P5-A733-01A-11D-A32B-08		21064202	30240364	42	52220											
TLR7	51284	broad.mit.edu	37	chrX	12904513	12904513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgacagaattaaaagttttaCgtctacacagtaactctctt	14	14	5	8	1	2	2	0	1	2	1	3	2	2	2	0	0	3	2	0	0	6	6			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:12904513C>T	ENST00000380659.3	+	3	1025	c.886C>T	c.(886-888)Cgt>Tgt	p.R296C		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	296					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	AAAAGTTTTACGTCTACACAG	0.418													T	12904513	C	T	12904513	3	4	651	1	0	0	0	0	1	0	0	0	16056	536	19	1	892	1	TLR7	23	12904513	Missense_Mutation	SNP	C	TCGA-P5-A733-01A-11D-A32B-08		12904513	142366047	43	52221											
OTUD6A	139562	broad.mit.edu	37	chrX	69282578	69282578	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctggagaagttccaagaCgacagtagcattgaatctgt	13	9	12	7	1	1	3	0	1	1	2	2	6	2	3	1	1	2	4	1	1	4	3			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:69282578C>T	ENST00000338352.2	+	1	238	c.204C>T	c.(202-204)gaC>gaT	p.D68D		NM_207320.1	NP_997203.1	Q7L8S5	OTU6A_HUMAN	OTU domain containing 6A	68										autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(8)|skin(3)|urinary_tract(1)	23						AGTTCCAAGACGACAGTAGCA	0.547													T	69282578	C	T	69282578	2	4	651	1	0	0	0	0	0	0	0	1	11392	535	19	1		1	OTUD6A	23	69282578	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	56378065	69282578	85987982	44	52222											
FOXO4	4303	broad.mit.edu	37	chrX	70320668	70320668	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccccccgccgccgggccgcCtccatggatagcagcagcaa	7	3	12	19	4	0	0	0	0	0	0	1	1	1	1	8	2	3	3	8	2	2	1			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:70320668C>T	ENST00000374259.3	+	2	920	c.588C>T	c.(586-588)gcC>gcT	p.A196A	FOXO4_ENST00000341558.3_Silent_p.A141A	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	196					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					gccgggccgccTCCATGGATA	0.622											OREG0019856	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	70320668	C	T	70320668	2	4	651	1	0	0	0	0	0	0	0	1	6076	668	24	2		2	FOXO4	23	70320668	Silent	SNP	C	TCGA-P5-A733-01A-11D-A32B-08	1038090	70320668	84949892	45	52223											
ATRX	546	broad.mit.edu	37	chrX	76937833	76937836	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															cagaagtttcatcgctctggTctttctttaggaatttctct																										TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:76937833_76937836delTCTT	ENST00000373344.5	-	9	3126_3129	c.2912_2915delAAGA	c.(2911-2916)aaagacfs	p.KD971fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.KD933fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	971					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)	ATCGCTCTGGTCTTTCTTTAGGAA	0.324			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937836	TCTT	-	76937833	7	5	651	1	0	1	0	1	0	0	0	0	1213	1667	58	0	4671	0	ATRX	23	76937833	Frame_Shift_Del	DEL	TCTT	TCGA-P5-A733-01A-11D-A32B-08	6617165	76937833	78332727	46	52224											
OPN1MW2	728458	broad.mit.edu	37	chrX	153496081	153496081	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaagtgacgcgcatggTggtggtgatggtcctggcat	8	9	18	6	2	0	2	0	2	0	0	1	4	1	3	1	6	0	2	1	6	2	0			TCGA-P5-A733-01A-11D-A32B-08	TCGA-P5-A733-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	aa30d54d-91d2-46aa-9db1-67a4ee42a4b5	a301d972-8e21-4d68-a1ff-cd3eb830f518	g.chrX:153496081T>G	ENST00000369929.4	+	5	869	c.809T>G	c.(808-810)gTg>gGg	p.V270G	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCGCATGGTGGTGGTGATG	0.572													G	153496081	T	G	153496081	3	3	651	1	0	0	0	0	1	0	0	0	10955	1696	59	5	1946	5	OPN1MW2	23	153496081	Missense_Mutation	SNP	T	TCGA-P5-A733-01A-11D-A32B-08	76558248	153496081	1774479	47	52225											
ARID1A	8289	broad.mit.edu	37	chr1	27101374	27101374	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcccatggcacacgccaGcccccatatggtccctctgc	6	8	7	20	1	1	0	0	0	1	0	3	0	3	0	6	2	2	1	6	2	1	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:27101374G>A	ENST00000324856.7	+	18	5027	c.4656G>A	c.(4654-4656)caG>caA	p.Q1552Q	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.Q1169Q|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1552					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GCACACGCCAGCCCCCATATG	0.597			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								A	27101374	G	A	27101374	2	1	652	1	0	0	0	0	0	0	0	1	916	962	34	2		2	ARID1A	1	27101374	Silent	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		27101374	222149247	1	52226											
MEX3A	92312	broad.mit.edu	37	chr1	156046687	156046689	+	In_Frame_Del	DEL	GAG	GAG	-																															cagcgcgggccttggcggaaGaggaggaggaggaggaggca																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:156046687_156046689delGAG	ENST00000532414.2	-	2	1238_1240	c.1239_1241delCTC	c.(1237-1242)tcctct>tct	p.413_414SS>S		NM_001093725.1	NP_001087194.1	A1L020	MEX3A_HUMAN	mex-3 RNA binding family member A	413	Poly-Ser.					cytoplasmic mRNA processing body|nucleus	RNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	9	Hepatocellular(266;0.158)|all_neural(408;0.195)					CTTGGCggaagaggaggaggagg	0.744													-	156046689	GAG	-	156046687	7	5	652	1	0	1	0	1	0	0	0	0	9584	942	33	0	325	0	MEX3A	1	156046687	In_Frame_Del	DEL	GAG	TCGA-P5-A735-01A-11D-A32B-08	128945313	156046687	93203934	2	52227											
SPTA1	6708	broad.mit.edu	37	chr1	158641928	158641928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagcactgctcatactgaCgatgacgctcgtcccacagt	10	8	8	15	3	1	2	1	2	0	0	3	3	2	2	2	0	3	3	2	0	2	1			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr1:158641928C>T	ENST00000368147.4	-	11	1589	c.1409G>A	c.(1408-1410)cGt>cAt	p.R470H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CTCATACTGACGATGACGCTC	0.453													T	158641928	C	T	158641928	3	4	652	1	0	0	0	0	1	0	0	0	15212	536	19	1	6018	1	SPTA1	1	158641928	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	2595241	158641928	90608693	3	52228											
OTOF	9381	broad.mit.edu	37	chr2	26684997	26684997	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcccctgtgaagaagtcgtCgtcctccaagaccacctcat	9	9	7	16	2	1	3	1	1	0	2	6	3	4	3	6	0	0	0	6	0	3	0			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:26684997C>T	ENST00000272371.2	-	42	5371	c.5245G>A	c.(5245-5247)Gac>Aac	p.D1749N	OTOF_ENST00000403946.3_Missense_Mutation_p.D1749N|OTOF_ENST00000402415.3_Missense_Mutation_p.D1059N|OTOF_ENST00000338581.6_Missense_Mutation_p.D982N|OTOF_ENST00000339598.3_Missense_Mutation_p.D982N	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1749					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AAGAAGTCGTCGTCCTCCAAG	0.607													T	26684997	C	T	26684997	3	4	652	1	0	0	0	0	1	0	0	0	11379	884	31	1	953	1	OTOF	2	26684997	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08		26684997	216514376	4	52229											
CEBPZ	10153	broad.mit.edu	37	chr2	37447581	37447581	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacagaacagagggtttcTactgaatggatcgtatttat	12	13	9	7	1	1	3	0	1	1	2	3	4	2	4	1	2	2	2	1	2	5	5			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:37447581T>C	ENST00000234170.5	-	5	2246	c.2101A>G	c.(2101-2103)Aga>Gga	p.R701G		NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	701					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				AGAGGGTTTCTACTGAATGGA	0.308													C	37447581	T	C	37447581	3	2	652	1	0	0	0	0	1	0	0	0	3234	1530	53	3	1111	3	CEBPZ	2	37447581	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	10762584	37447581	205751792	5	52230											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	652	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	171665531	209113112	34086261	6	52231											
SLC11A1	6556	broad.mit.edu	37	chr2	219251432	219251432	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcaggaagtcatcggcacGgccattgcattcaatctgct	10	10	10	11	2	3	0	2	0	1	0	4	1	3	1	1	3	3	4	1	3	2	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr2:219251432G>A	ENST00000233202.6	+	5	808	c.468G>A	c.(466-468)acG>acA	p.T156T	SLC11A1_ENST00000539932.1_Silent_p.T38T	NM_000578.3	NP_000569.3	P49279	NRAM1_HUMAN	solute carrier family 11 (proton-coupled divalent metal ion transporter), member 1	156					activation of protein kinase activity|antigen processing and presentation of peptide antigen|cadmium ion transmembrane transport|cellular cadmium ion homeostasis|cellular iron ion homeostasis|defense response to Gram-negative bacterium|defense response to protozoan|divalent metal ion export|inflammatory response|interleukin-2 production|interleukin-3 production|iron ion transport|L-arginine import|macrophage activation|MHC class II biosynthetic process|mRNA stabilization|multicellular organismal iron ion homeostasis|negative regulation of cytokine production|nitrite transport|phagocytosis|positive regulation of dendritic cell antigen processing and presentation|positive regulation of interferon-gamma production|positive regulation of phagocytosis|positive regulation of T-helper 1 type immune response|positive regulation of transcription from RNA polymerase II promoter|respiratory burst|response to interferon-gamma|response to lipopolysaccharide|T cell cytokine production|T cell proliferation involved in immune response|vacuolar acidification|wound healing	integral to plasma membrane|late endosome membrane|lysosome|phagocytic vesicle membrane|tertiary granule membrane	manganese ion transmembrane transporter activity|metal ion:hydrogen antiporter activity|protein homodimerization activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	19		Renal(207;0.0474)		Epithelial(149;1.16e-06)|all cancers(144;0.000195)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCATCGGCACGGCCATTGCAT	0.582													A	219251432	G	A	219251432	2	1	652	1	0	0	0	0	0	0	0	1	14474	1103	39	1		1	SLC11A1	2	219251432	Silent	SNP	G	TCGA-P5-A735-01A-11D-A32B-08	10138320	219251432	23947941	7	52232											
CNTN4	152330	broad.mit.edu	37	chr3	3084667	3084667	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtttatcttcttaggttaaaTattggagacatgaagacaaa	15	14	8	4	0	2	3	0	1	2	2	2	4	2	3	0	2	0	2	0	2	7	7			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:3084667T>A	ENST00000397461.1	+	21	2902	c.2518T>A	c.(2518-2520)Tat>Aat	p.Y840N	CNTN4_ENST00000448906.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000397459.2_Missense_Mutation_p.Y512N|CNTN4_ENST00000358480.3_Missense_Mutation_p.Y621N|CNTN4_ENST00000418658.1_Missense_Mutation_p.Y840N|CNTN4-AS1_ENST00000442749.2_RNA|CNTN4_ENST00000427331.1_Missense_Mutation_p.Y840N	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	840	Fibronectin type-III 3.				axon guidance|axonal fasciculation|brain development|negative regulation of neuron differentiation|neuron cell-cell adhesion|regulation of synaptic plasticity	anchored to membrane|axon|extracellular region|plasma membrane	protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		TTAGGTTAAATATTGGAGACA	0.353													A	3084667	T	A	3084667	3	1	652	1	0	0	0	0	1	0	0	0	3674	1406	49	5	2592	5	CNTN4	3	3084667	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		3084667	194937763	8	52233											
COLQ	8292	broad.mit.edu	37	chr3	15516986	15516986	+	Frame_Shift_Del	DEL	T	T	-																															cccatcatacccaggtcaccTttttcaccctgtgggaatta																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr3:15516986delT	ENST00000383785.2	-	7	599	c.474delA	c.(472-474)aaafs	p.K158fs	COLQ_ENST00000435459.2_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383786.5_Frame_Shift_Del_p.K124fs|COLQ_ENST00000383787.2_Frame_Shift_Del_p.K149fs|COLQ_ENST00000603808.1_Frame_Shift_Del_p.K158fs|COLQ_ENST00000383781.4_Frame_Shift_Del_p.K148fs|COLQ_ENST00000383788.5_Frame_Shift_Del_p.K158fs			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	158	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCAGGTCACCTTTTTCACCCT	0.507													-	15516986	T	-	15516986	7	5	652	1	0	1	0	1	0	0	0	0	3744	1606	56	0	937	0	COLQ	3	15516986	Frame_Shift_Del	DEL	T	TCGA-P5-A735-01A-11D-A32B-08	12432319	15516986	182505444	9	52234											
CCDC110	256309	broad.mit.edu	37	chr4	186379853	186379853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtttctattatttgaagaaGtgtctcttgttccgtttttg	6	22	8	5	1	2	2	0	1	2	1	4	2	3	2	1	0	0	3	1	0	4	8			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:186379853G>A	ENST00000307588.3	-	6	1963	c.1888C>T	c.(1888-1890)Ctt>Ttt	p.L630F	CCDC110_ENST00000510617.1_Missense_Mutation_p.L630F|CCDC110_ENST00000393540.3_Missense_Mutation_p.L593F	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	630						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		ATTTGAAGAAGTGTCTCTTGT	0.328													A	186379853	G	A	186379853	3	1	652	1	0	0	0	0	1	0	0	0	2773	1029	36	2	621	2	CCDC110	4	186379853	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		186379853	4774423	10	52235											
FAT1	2195	broad.mit.edu	37	chr4	187532792	187532792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagccttgatccacagCtttcaaagagagggtgtata	12	10	11	8	0	1	2	1	1	0	1	2	3	2	2	2	2	2	3	2	2	4	4			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr4:187532792C>T	ENST00000441802.2	-	14	9810	c.9601G>A	c.(9601-9603)Gct>Act	p.A3201T		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3201	Cadherin 29.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						TGATCCACAGCTTTCAAAGAG	0.453										HNSCC(5;0.00058)			T	187532792	C	T	187532792	3	4	652	1	0	0	0	0	1	0	0	0	5738	797	28	2	4221	2	FAT1	4	187532792	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	1152939	187532792	3621484	11	52236											
ADAMTS19	171019	broad.mit.edu	37	chr5	128862012	128862012	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctagaaaaatagcagaaAgtggaagagggaaacgatat	19	6	13	3	1	1	3	0	0	1	3	1	6	1	5	0	3	2	1	0	3	8	3			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr5:128862012A>G	ENST00000274487.4	+	4	1076	c.931A>G	c.(931-933)Agt>Ggt	p.S311G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	311					proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		AATAGCAGAAAGTGGAAGAGG	0.363													G	128862012	A	G	128862012	3	3	652	1	0	0	0	0	1	0	0	0	264	72	3	3	945	3	ADAMTS19	5	128862012	Missense_Mutation	SNP	A	TCGA-P5-A735-01A-11D-A32B-08		128862012	52053248	12	52237											
SLC17A2	10246	broad.mit.edu	37	chr6	25921307	25921307	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccaaatagtaaactgaccTgtccatgccattccctgaaa	13	9	6	13	0	0	2	0	2	0	0	2	2	2	2	5	0	2	1	5	0	5	3			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:25921307T>A	ENST00000377850.3	-	5	1013	c.489A>T	c.(487-489)acA>acT	p.T163T	SLC17A2_ENST00000360488.3_Silent_p.T163T|SLC17A2_ENST00000265425.3_Silent_p.T163T			O00624	NPT3_HUMAN	solute carrier family 17, member 2	163					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						TAAACTGACCTGTCCATGCCA	0.433													A	25921307	T	A	25921307	2	1	652	1	0	0	0	0	0	0	0	1	14511	1567	55	5		5	SLC17A2	6	25921307	Silent	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		25921307	145193760	13	52238											
KIFC1	3833	broad.mit.edu	37	chr6	33372952	33372953	+	Frame_Shift_Del	DEL	GA	GA	-																															gacgagcggcgtgggaccctGagtggggcaccagctccccc																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr6:33372952_33372953delGA	ENST00000428849.2	+	7	1530_1531	c.1080_1081delGA	c.(1078-1083)ctgagtfs	p.S361fs		NM_002263.3	NP_002254.2	Q9BW19	KIFC1_HUMAN	kinesin family member C1	361	Kinesin-motor.				blood coagulation|cell division|microtubule-based movement|mitotic sister chromatid segregation	early endosome|microtubule|microtubule associated complex|microtubule organizing center|nucleus|spindle	ATP binding|microtubule motor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(3)|skin(1)	13						GTGGGACCCTGAGTGGGGCACC	0.609													-	33372953	GA	-	33372952	7	5	652	1	0	1	0	1	0	0	0	0	8370	1277	45	0	1106	0	KIFC1	6	33372952	Frame_Shift_Del	DEL	GA	TCGA-P5-A735-01A-11D-A32B-08	7451645	33372952	137742115	14	52239											
INSIG1	3638	broad.mit.edu	37	chr7	155090103	155090105	+	In_Frame_Del	DEL	GAT	GAT	-																															ctggcggccaaggttggggaGatgatcaacgtttccgtgtc																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr7:155090103_155090105delGAT	ENST00000340368.4	+	2	319_321	c.108_110delGAT	c.(106-111)gagatg>gag	p.M37del	INSIG1_ENST00000344756.4_Intron|INSIG1_ENST00000342407.5_In_Frame_Del_p.M37del	NM_005542.4	NP_005533.2	O15503	INSI1_HUMAN	insulin induced gene 1	37					cell proliferation|ER-nuclear sterol response pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(11)|prostate(1)|upper_aerodigestive_tract(2)	19	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGTTGGGGAGATGATCAACGTT	0.744													-	155090105	GAT	-	155090103	7	5	652	1	0	1	0	1	0	0	0	0	7823	933	33	0	110	0	INSIG1	7	155090103	In_Frame_Del	DEL	GAT	TCGA-P5-A735-01A-11D-A32B-08		155090103	4048560	15	52240											
TACC2	10579	broad.mit.edu	37	chr10	123843843	123843843	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagcaagcgtgatccagaaGtaggcaaagatgagctttca	14	7	12	8	1	1	4	1	2	0	2	2	4	2	4	1	1	3	5	1	1	4	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr10:123843843G>C	ENST00000369005.1	+	4	2168	c.1828G>C	c.(1828-1830)Gta>Cta	p.V610L	TACC2_ENST00000515603.1_Missense_Mutation_p.V610L|TACC2_ENST00000515273.1_Missense_Mutation_p.V610L|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000453444.2_Missense_Mutation_p.V610L|TACC2_ENST00000334433.3_Missense_Mutation_p.V610L|TACC2_ENST00000513429.1_Intron	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	610						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				TGATCCAGAAGTAGGCAAAGA	0.572													C	123843843	G	C	123843843	3	2	652	1	0	0	0	0	1	0	0	0	15599	1029	36	4	1838	4	TACC2	10	123843843	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		123843843	11690904	16	52241											
SPON1	10418	broad.mit.edu	37	chr11	14284600	14284600	+	RNA	DEL	A	A	-																															gctaagtcttggacctgtttAaaaaaaaaaaaaaaaaaaaa																								rs79477301		TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr11:14284600delA	ENST00000310358.7	+	0	2795				RP11-21L19.1_ENST00000534587.1_RNA			Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GGACCTGTTTaaaaaaaaaaa	0.463													-	14284600	A	-	14284600	6	5	652	0	1	1	0	1	0	0	0	0	15178	377	13	0		0	SPON1	11	14284600	RNA	DEL	A	TCGA-P5-A735-01A-11D-A32B-08		14284600	120721916	17	52242											
AGBL2	79841	broad.mit.edu	37	chr11	47731973	47731973	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtctggtatcaaatcatctTtttccccaagagagccattc	10	14	6	11	0	4	1	2	0	2	1	6	2	5	1	3	1	1	1	3	1	3	4			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr11:47731973T>C	ENST00000525123.1	-	4	473	c.188A>G	c.(187-189)aAa>aGa	p.K63R	AGBL2_ENST00000528244.1_Missense_Mutation_p.K63R|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000357610.3_Missense_Mutation_p.K63R|AGBL2_ENST00000298861.4_Missense_Mutation_p.K63R	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	63					proteolysis	cytosol	metallocarboxypeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(8)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)	34						CAAATCATCTTTTTCCCCAAG	0.433													C	47731973	T	C	47731973	3	2	652	1	0	0	0	0	1	0	0	0	376	1841	64	3	2584	3	AGBL2	11	47731973	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	33447373	47731973	87274543	18	52243											
TMEM19	55266	broad.mit.edu	37	chr12	72094726	72094726	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgttttcttctgttcttaTtgccctcttgctcccaactg	3	20	5	13	0	5	0	0	0	5	0	6	0	6	0	2	0	3	3	2	0	2	7			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr12:72094726T>C	ENST00000266673.5	+	6	1556	c.962T>C	c.(961-963)aTt>aCt	p.I321T		NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	321						integral to membrane				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		TCTGTTCTTATTGCCCTCTTG	0.463													C	72094726	T	C	72094726	3	2	652	1	0	0	0	0	1	0	0	0	16213	1493	52	3	984	3	TMEM19	12	72094726	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08		72094726	61757169	19	52244											
MKRN3	7681	broad.mit.edu	37	chr15	23811405	23811405	+	Frame_Shift_Del	DEL	C	C	-																															gactcaggaagtggcggaagCccccccggctgcatcctccc																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:23811405delC	ENST00000314520.3	+	1	952	c.476delC	c.(475-477)gccfs	p.A159fs	MKRN3_ENST00000564592.1_Intron|MKRN3_ENST00000568252.1_Intron	NM_005664.3	NP_005655.1	Q13064	MKRN3_HUMAN	makorin ring finger protein 3	159						ribonucleoprotein complex	ligase activity|nucleic acid binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(33)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		all_cancers(20;8.44e-25)|all_epithelial(15;3.69e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000353)|Colorectal(260;0.14)		all cancers(64;3.02e-06)|Epithelial(43;1.94e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0012)		GTGGCGGAAGCCCCCCCGGCT	0.642													-	23811405	C	-	23811405	7	5	652	1	0	1	0	1	0	0	0	0	9683	739	26	0	478	0	MKRN3	15	23811405	Frame_Shift_Del	DEL	C	TCGA-P5-A735-01A-11D-A32B-08		23811405	78719987	20	52245											
PLEKHO2	80301	broad.mit.edu	37	chr15	65157873	65157873	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggaggtgaaggtggcctCggaacagacggagaaactgt	11	6	17	7	2	0	3	0	1	0	2	1	6	0	5	1	6	2	1	1	6	3	0			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr15:65157873C>T	ENST00000323544.4	+	6	1387	c.1259C>T	c.(1258-1260)tCg>tTg	p.S420L	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	420										NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						AAGGTGGCCTCGGAACAGACG	0.632													T	65157873	C	T	65157873	3	4	652	1	0	0	0	0	1	0	0	0	12162	893	31	1	1281	1	PLEKHO2	15	65157873	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	41346468	65157873	37373519	21	52246											
USP6	9098	broad.mit.edu	37	chr17	5066179	5066179	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatctttcccccctttttagAttttgcagaggctgtaaaat	9	16	7	9	0	1	2	0	0	1	2	2	3	2	2	3	1	1	3	3	1	3	7			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:5066179A>G	ENST00000574788.1	+	33	5146	c.2916A>G	c.(2914-2916)agA>agG	p.R972R	USP6_ENST00000332776.4_3'UTR|USP6_ENST00000304328.5_Splice_Site_p.R655R|USP6_ENST00000250066.6_Splice_Site_p.R972R			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	972					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CCCTTTTTAGATTTTGCAGAG	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								G	5066179	A	G	5066179	5	3	652	1	0	0	0	0	0	0	1	0	17188	347	12	3	3010	3	USP6	17	5066179	Splice_Site	SNP	A	TCGA-P5-A735-01A-11D-A32B-08		5066179	76129031	22	52247											
TP53	7157	broad.mit.edu	37	chr17	7577096	7577096	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcttcctctgtgcgccggTctctcccaggacaggcacaa	6	10	9	16	2	3	0	0	0	3	0	7	1	5	1	3	3	1	1	3	3	1	1			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7577096T>A	ENST00000420246.2	-	8	974	c.842A>T	c.(841-843)gAc>gTc	p.D281V	TP53_ENST00000445888.2_Missense_Mutation_p.D281V|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.D281V|TP53_ENST00000455263.2_Missense_Mutation_p.D281V|TP53_ENST00000269305.4_Missense_Mutation_p.D281V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	281	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		D -> A (in sporadic cancers; somatic mutation).|D -> E (in sporadic cancers; somatic mutation).|D -> G (in a brain tumor with no family history; germline mutation and in sporadic cancers; somatic mutation).|D -> H (in sporadic cancers; somatic mutation).|D -> N (in LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> R (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|D -> V (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|D -> Y (in sporadic cancers; somatic mutation).|DR -> EW (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.D281G(10)|p.0?(8)|p.D281V(5)|p.?(2)|p.D281fs*63(2)|p.R280_D281delRD(2)|p.D281A(2)|p.D281>AGPY(2)|p.A276_R283delACPGRDRR(1)|p.D281R(1)|p.C275fs*20(1)|p.L265_K305del41(1)|p.D281_R282delDR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TGTGCGCCGGTCTCTCCCAGG	0.552		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)			A	7577096	T	A	7577096	3	1	652	1	0	0	0	0	1	0	0	0	16482	1667	58	5	444	5	TP53	17	7577096	Missense_Mutation	SNP	T	TCGA-P5-A735-01A-11D-A32B-08	2510917	7577096	73618114	23	52248											
TP53	7157	broad.mit.edu	37	chr17	7579699	7579699	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagcccaacccttgtccttaCcagaacgttgttttcaggaa	10	11	7	13	1	1	1	1	0	0	1	2	2	2	2	4	1	4	2	4	1	4	5			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr17:7579699C>T	ENST00000420246.2	-	3	229		c.e3+1		TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(11)|p.0?(8)|p.S33fs*10(1)|p.P13fs*18(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)		CTTGTCCTTACCAGAACGTTG	0.597		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)			T	7579699	C	T	7579699	5	4	652	1	0	0	0	0	0	0	1	0	16482	521	18	2	1209	2	TP53	17	7579699	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	2603	7579699	73615511	24	52249											
MALT1	10892	broad.mit.edu	37	chr18	56363642	56363642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaggcagtcttggctGgacagtttgtgaaactgtgt	10	12	13	6	0	2	1	1	1	1	0	2	2	2	2	0	3	1	3	0	3	2	2			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr18:56363642G>A	ENST00000348428.3	+	3	679	c.421G>A	c.(421-423)Gga>Aga	p.G141R	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Missense_Mutation_p.G141R	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	141	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						AGTCTTGGCTGGACAGTTTGT	0.313			T	BIRC3	MALT								A	56363642	G	A	56363642	3	1	652	1	0	0	0	0	1	0	0	0	9277	1349	47	2	431	2	MALT1	18	56363642	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		56363642	21713606	25	52250											
ARHGEF18	23370	broad.mit.edu	37	chr19	7531821	7531821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtggaggcgccaggcacGgaatccgatccccgtctgcc	7	5	14	15	4	1	0	0	0	1	0	3	3	3	2	5	5	1	1	5	5	1	0	rs79986215	byFrequency	TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:7531821G>A	ENST00000593531.1	+	17	2231	c.2231G>A	c.(2230-2232)cGg>cAg	p.R744Q	ARHGEF18_ENST00000359920.6_Silent_p.T786T|ARHGEF18_ENST00000319670.9_Silent_p.T628T																							CGCCAGGCACGGAATCCGATC	0.627													A	7531821	G	A	7531821	3	1	652	1	0	0	0	0	1	0	0	0	904	1103	39	1	2412	1	ARHGEF18	19	7531821	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08		7531821	51597162	26	52251											
FCGBP	8857	broad.mit.edu	37	chr19	40368644	40368644	+	Frame_Shift_Del	DEL	A	A	-																															agatgggtatggagggagccAgtgtgccattagggaagacc																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:40368644delA	ENST00000221347.6	-	28	12711	c.12704delT	c.(12703-12705)ctgfs	p.L4235fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4235	VWFD 10.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			GGAGGGAGCCAGTGTGCCATT	0.642													-	40368644	A	-	40368644	7	5	652	1	0	1	0	1	0	0	0	0	5827	188	7	0	3549	0	FCGBP	19	40368644	Frame_Shift_Del	DEL	A	TCGA-P5-A735-01A-11D-A32B-08	32836823	40368644	18760339	27	52252											
PLEKHA4	57664	broad.mit.edu	37	chr19	49348627	49348627	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggatggacctacagcttacCttggttcctagctgtgggga	8	11	13	9	0	0	0	0	0	0	0	1	3	1	3	3	5	4	3	3	5	3	5			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr19:49348627C>G	ENST00000263265.6	-	16	2298	c.1743G>C	c.(1741-1743)aaG>aaC	p.K581N	PLEKHA4_ENST00000355496.5_Splice_Site_p.K556N	NM_020904.2	NP_065955.2	Q9H4M7	PKHA4_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 4	581						cytoplasm|membrane	1-phosphatidylinositol binding			NS(1)|breast(5)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(3)|skin(2)|urinary_tract(2)	30		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;0.000108)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.00027)|all cancers(93;0.00084)|GBM - Glioblastoma multiforme(486;0.0244)|Epithelial(262;0.0364)		TACAGCTTACCTTGGTTCCTA	0.572													G	49348627	C	G	49348627	5	3	652	1	0	0	0	0	0	0	1	0	12135	695	24	4	616	4	PLEKHA4	19	49348627	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	8979983	49348627	9780356	28	52253											
LBP	3929	broad.mit.edu	37	chr20	36993276	36993276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctccagttaccctccttgCtgcagtcatgagccttcctg	5	14	7	15	0	2	1	1	1	1	0	5	1	4	1	5	0	4	3	5	0	1	4			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr20:36993276C>T	ENST00000217407.2	+	8	952	c.791C>T	c.(790-792)gCt>gTt	p.A264V		NM_004139.3	NP_004130.2	P18428	LBP_HUMAN	lipopolysaccharide binding protein	264					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)				ACCCTCCTTGCTGCAGTCATG	0.488													T	36993276	C	T	36993276	3	4	652	1	0	0	0	0	1	0	0	0	8710	797	28	2	821	2	LBP	20	36993276	Missense_Mutation	SNP	C	TCGA-P5-A735-01A-11D-A32B-08		36993276	26032244	29	52254											
SEZ6L	23544	broad.mit.edu	37	chr22	26688782	26688783	+	Frame_Shift_Ins	INS	-	-	ACCCGGACCCC																															gaagcctggcccaccgggggINSacccggaccccatcgtggcc																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chr22:26688782_26688783insACCCGGACCCC	ENST00000529632.2	+	2	701_702	c.505_506insACCCGGACCCC	c.(505-507)gacfs	p.-172fs	SEZ6L_ENST00000404234.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000248933.6_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000343706.4_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000360929.3_Frame_Shift_Ins_p.-172fs|SEZ6L_ENST00000402979.1_5'UTR|SEZ6L_ENST00000403121.1_5'UTR	NM_001184774.1|NM_001184775.1|NM_001184777.1	NP_001171703.1|NP_001171704.1|NP_001171706.1	Q9BYH1	SE6L1_HUMAN	seizure related 6 homolog (mouse)-like							endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(35)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	80						CCCACCGGGGGACCCGGACCCC	0.668													ACCCGGACCCC	26688783	-	ACCCGGACCCC	26688782	7	5	652	1	0	1	1	0	0	0	0	0	14236	1174	41	0	511	0	SEZ6L	22	26688782	Frame_Shift_Ins	INS	-	TCGA-P5-A735-01A-11D-A32B-08		26688782	24615784	30	52255											
ATRX	546	broad.mit.edu	37	chrX	76940492	76940493	+	Frame_Shift_Ins	INS	-	-	G																															tcactcatgtaatacttaaaINSgcaattctattaaaagaaaa																										TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:76940492_76940493insG	ENST00000373344.5	-	8	814_815	c.600_601insC	c.(598-603)tgctttfs	p.F201fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.F163fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	201	ADD.				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)	TAATACTTAAAGCAATTCTATT	0.292			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76940493	-	G	76940492	7	5	652	1	0	1	1	0	0	0	0	0	1213	72	3	0	6989	0	ATRX	23	76940492	Frame_Shift_Ins	INS	-	TCGA-P5-A735-01A-11D-A32B-08		76940492	78330068	31	52256											
ELF4	2000	broad.mit.edu	37	chrX	129205311	129205311	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagtcccagctgtccatacCtttgccatcctttgatttct	6	16	6	13	0	1	2	0	2	1	0	4	2	4	2	5	0	3	1	5	0	1	4			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:129205311C>T	ENST00000308167.5	-	6	995	c.616G>A	c.(616-618)Ggc>Agc	p.G206S	ELF4_ENST00000335997.7_Splice_Site_p.G206S	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	206	RUNX1-binding.				natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						CTGTCCATACCTTTGCCATCC	0.612			T	ERG	AML								T	129205311	C	T	129205311	5	4	652	1	0	0	0	0	0	0	1	0	5097	695	24	2	1391	2	ELF4	23	129205311	Splice_Site	SNP	C	TCGA-P5-A735-01A-11D-A32B-08	52264819	129205311	26065249	32	52257											
L1CAM	3897	broad.mit.edu	37	chrX	153133835	153133835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gctgcaaggaggggtcaaagGaggcctggcacgtgaaggtc	10	5	18	8	1	1	1	1	1	0	0	2	3	1	3	1	7	1	3	1	7	3	0			TCGA-P5-A735-01A-11D-A32B-08	TCGA-P5-A735-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28480ed8-d453-475f-a928-b02e55a6cb6e	a23c762e-4fd9-4110-9ee0-405694453b4f	g.chrX:153133835G>A	ENST00000370060.1	-	14	1814	c.1625C>T	c.(1624-1626)tCc>tTc	p.S542F	L1CAM_ENST00000361981.3_Missense_Mutation_p.S537F|L1CAM_ENST00000370057.3_Missense_Mutation_p.S542F|L1CAM_ENST00000361699.4_Missense_Mutation_p.S542F|L1CAM_ENST00000538883.1_Missense_Mutation_p.S544F|L1CAM_ENST00000543994.1_Missense_Mutation_p.S544F|L1CAM_ENST00000370055.1_Missense_Mutation_p.S537F	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	542	Ig-like C2-type 6.		S -> P (in HSAS).		axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GGGGTCAAAGGAGGCCTGGCA	0.602													A	153133835	G	A	153133835	3	1	652	1	0	0	0	0	1	0	0	0	8647	1174	41	2	2212	2	L1CAM	23	153133835	Missense_Mutation	SNP	G	TCGA-P5-A735-01A-11D-A32B-08	23928524	153133835	2136725	33	52258											
RYR2	6262	broad.mit.edu	37	chr1	237890418	237890418	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcagagatctaaaaaggctgTatggcataaactactgtcca	15	10	8	8	0	2	1	1	0	1	1	3	2	3	1	1	2	2	3	1	2	7	4			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr1:237890418T>C	ENST00000366574.2	+	76	11074	c.10757T>C	c.(10756-10758)gTa>gCa	p.V3586A	RYR2_ENST00000542537.1_Missense_Mutation_p.V3570A|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.V3584A	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3586					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AAAAAGGCTGTATGGCATAAA	0.393													C	237890418	T	C	237890418	3	2	653	1	0	0	0	0	1	0	0	0	13860	1638	57	3	11059	3	RYR2	1	237890418	Missense_Mutation	SNP	T	TCGA-P5-A736-01A-11D-A32B-08		237890418	11360203	1	52259											
GPR75	10936	broad.mit.edu	37	chr2	54081033	54081033	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggttgggactcttggtataTccacgggtctgaacgtgctg	6	13	14	8	2	2	1	0	1	2	0	3	2	3	2	1	4	2	3	1	4	3	4			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:54081033T>C	ENST00000394705.2	-	2	1131	c.861A>G	c.(859-861)ggA>ggG	p.G287G	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron	NM_006794.3	NP_006785.1	O95800	GPR75_HUMAN	G protein-coupled receptor 75	287						integral to plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	18			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			TCTTGGTATATCCACGGGTCT	0.562													C	54081033	T	C	54081033	2	2	653	1	0	0	0	0	0	0	0	1	6762	1422	50	3		3	GPR75	2	54081033	Silent	SNP	T	TCGA-P5-A736-01A-11D-A32B-08		54081033	189118340	2	52260											
TTC21B	79809	broad.mit.edu	37	chr2	166747103	166747103	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccccagtcacgatctttcCgagctttattaaaatgtcga	10	12	8	11	3	2	0	1	0	1	0	4	3	3	0	3	1	1	1	3	1	3	4	rs144103331		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr2:166747103C>T	ENST00000243344.7	-	24	3286	c.3149G>A	c.(3148-3150)cGg>cAg	p.R1050Q	TTC21B_ENST00000536175.1_5'UTR	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1050						cilium axoneme|cytoplasm|cytoskeleton	binding	p.R1050Q(1)		breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						ACGATCTTTCCGAGCTTTATT	0.343													T	166747103	C	T	166747103	3	4	653	1	0	0	0	0	1	0	0	0	16790	652	23	1	825	1	TTC21B	2	166747103	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	112666070	166747103	76452270	3	52261											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	653	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	42366009	209113112	34086261	4	52262											
WNT7A	7476	broad.mit.edu	37	chr3	13916574	13916574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctatgacgatgatggcgtcGggccggctctggcagatcgc	6	8	15	12	5	1	3	0	2	1	1	3	4	1	3	2	4	0	2	2	4	1	1	rs145281257	by1000genomes	TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:13916574G>A	ENST00000285018.4	-	2	472	c.168C>T	c.(166-168)ccC>ccT	p.P56P	WNT7A_ENST00000497808.1_5'UTR	NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	56					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						TGATGGCGTCGGGCCGGCTCT	0.602													A	13916574	G	A	13916574	2	1	653	1	0	0	0	0	0	0	0	1	17496	1103	39	1		1	WNT7A	3	13916574	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		13916574	184105856	5	52263											
TMEM14E	645843	broad.mit.edu	37	chr3	152058331	152058331	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatttttaattcttcatgagTccaagctgagacatagctac	12	14	7	8	0	2	2	1	2	1	1	3	4	3	2	1	0	3	2	1	0	4	7			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr3:152058331T>C	ENST00000408960.3	-	1	448	c.363A>G	c.(361-363)ggA>ggG	p.G121G	MBNL1_ENST00000324210.5_Intron|MBNL1_ENST00000493459.1_Intron|MBNL1_ENST00000498502.1_Intron|MBNL1_ENST00000324196.5_Intron|MBNL1_ENST00000485910.1_Intron|MBNL1_ENST00000492948.1_Intron|MBNL1_ENST00000357472.3_Intron|MBNL1_ENST00000545754.1_Intron|MBNL1_ENST00000282486.6_Intron|MBNL1_ENST00000355460.2_Intron|MBNL1_ENST00000463374.1_Intron|MBNL1_ENST00000485509.1_Intron|MBNL1_ENST00000282488.7_Intron	NM_001123228.1	NP_001116700.1	Q6UXP3	TM14E_HUMAN	transmembrane protein 14E	121						integral to membrane				lung(1)	1						TCTTCATGAGTCCAAGCTGAG	0.348													C	152058331	T	C	152058331	2	2	653	1	0	0	0	0	0	0	0	1	16166	1654	58	3		3	TMEM14E	3	152058331	Silent	SNP	T	TCGA-P5-A736-01A-11D-A32B-08	138141757	152058331	45964099	6	52264											
ADAMTS3	9508	broad.mit.edu	37	chr4	73169735	73169735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaagatctatgaaggtccGcgacttggcttcctcccctt	8	11	8	14	2	1	2	0	1	1	1	4	3	4	2	5	2	0	1	5	2	3	4			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr4:73169735G>A	ENST00000286657.4	-	17	2359	c.2323C>T	c.(2323-2325)Cgg>Tgg	p.R775W		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	775	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding	p.R775W(1)		NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			ATGAAGGTCCGCGACTTGGCT	0.393													A	73169735	G	A	73169735	3	1	653	1	0	0	0	0	1	0	0	0	267	1086	38	1	1318	1	ADAMTS3	4	73169735	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		73169735	117984541	7	52265											
UGT3A2	167127	broad.mit.edu	37	chr5	36035966	36035966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacatagggcttgaggtgcGtcgcgccccctgtctggagg	6	8	16	11	3	1	2	0	1	1	1	2	3	1	3	2	4	1	1	2	4	1	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:36035966G>A	ENST00000282507.3	-	7	1507	c.1406C>T	c.(1405-1407)aCg>aTg	p.T469M	UGT3A2_ENST00000545528.1_Missense_Mutation_p.T167M|UGT3A2_ENST00000513300.1_Missense_Mutation_p.T435M	NM_174914.3	NP_777574.2	Q3SY77	UD3A2_HUMAN	UDP glycosyltransferase 3 family, polypeptide A2	469						integral to membrane	glucuronosyltransferase activity			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	43	all_lung(31;0.000179)		Lung(74;0.111)|Epithelial(62;0.113)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			CTTGAGGTGCGTCGCGCCCCC	0.627													A	36035966	G	A	36035966	3	1	653	1	0	0	0	0	1	0	0	0	17066	1145	40	1	169	1	UGT3A2	5	36035966	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		36035966	144879294	8	52266											
F2RL1	2150	broad.mit.edu	37	chr5	76129526	76129526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcctttgccgaagtgtccGcactgtaaagcagatgcaag	10	10	10	11	2	1	1	0	0	1	1	3	2	2	1	3	0	3	4	3	0	4	2	rs149001132		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:76129526G>A	ENST00000296677.4	+	2	1300	c.1094G>A	c.(1093-1095)cGc>cAc	p.R365H		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	365					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity	p.R365H(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CGAAGTGTCCGCACTGTAAAG	0.448													A	76129526	G	A	76129526	3	1	653	1	0	0	0	0	1	0	0	0	5386	1087	38	1	1100	1	F2RL1	5	76129526	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	40093560	76129526	104785734	9	52267											
PCDHB8	56128	broad.mit.edu	37	chr5	140559227	140559227	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggtgggcgcttcagaccgcGgctccccggctttgagcagc	4	7	16	14	4	1	2	1	1	0	1	2	2	2	2	3	4	2	4	3	4	0	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:140559227G>A	ENST00000239444.2	+	1	1857	c.1612G>A	c.(1612-1614)Ggc>Agc	p.G538S		NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN		538	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGACCGCGGCTCCCCGGC	0.667													A	140559227	G	A	140559227	3	1	653	1	0	0	0	0	1	0	0	0	11624	1116	39	1	1614	1	PCDHB8	5	140559227	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	64429701	140559227	40356033	10	52268											
GRIA1	2890	broad.mit.edu	37	chr5	153054155	153054155	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagacactattccggccaaGatcatgcagcagtggaagaa	15	6	10	10	1	1	3	1	0	0	3	2	4	2	4	2	2	2	2	2	2	4	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr5:153054155G>C	ENST00000285900.5	+	6	1138	c.795G>C	c.(793-795)aaG>aaC	p.K265N	GRIA1_ENST00000448073.4_Missense_Mutation_p.K275N|GRIA1_ENST00000340592.5_Missense_Mutation_p.K265N|GRIA1_ENST00000518142.1_Missense_Mutation_p.K185N|GRIA1_ENST00000521843.2_Missense_Mutation_p.K196N|GRIA1_ENST00000518783.1_Missense_Mutation_p.K275N	NM_000827.3|NM_001258019.1	NP_000818.2|NP_001244948.1	P42261	GRIA1_HUMAN	glutamate receptor, ionotropic, AMPA 1	265					synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic spine|endocytic vesicle membrane|endoplasmic reticulum membrane|neuronal cell body|postsynaptic density|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity|PDZ domain binding			NS(1)|breast(4)|endometrium(7)|kidney(3)|large_intestine(24)|liver(2)|lung(23)|ovary(4)|pancreas(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	81		Medulloblastoma(196;0.0391)|all_neural(177;0.16)|all_hematologic(541;0.21)	Kidney(363;0.000173)|KIRC - Kidney renal clear cell carcinoma(527;0.000785)		Desflurane(DB01189)|Enflurane(DB00228)|Halothane(DB01159)|Isoflurane(DB00753)|L-Glutamic Acid(DB00142)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	TTCCGGCCAAGATCATGCAGC	0.527													C	153054155	G	C	153054155	3	2	653	1	0	0	0	0	1	0	0	0	6822	933	33	4	817	4	GRIA1	5	153054155	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	12494928	153054155	27861105	11	52269											
MAP7	9053	broad.mit.edu	37	chr6	136686877	136686877	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgagtttgctcttaccaggGccaacttctggttcagcagg	7	12	12	10	0	3	1	1	1	2	0	3	1	3	1	2	3	4	4	2	3	2	4			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr6:136686877G>A	ENST00000354570.3	-	10	1679	c.1269C>T	c.(1267-1269)ggC>ggT	p.G423G	MAP7_ENST00000454590.1_Silent_p.G445G|MAP7_ENST00000432797.2_Silent_p.G277G|MAP7_ENST00000544465.1_Silent_p.G408G|MAP7_ENST00000438100.2_Silent_p.G408G	NM_001198616.1|NM_001198617.1|NM_001198619.1|NM_003980.4	NP_001185545.1|NP_001185546.1|NP_001185548.1|NP_003971.1	Q14244	MAP7_HUMAN	microtubule-associated protein 7	423	Pro-rich.				establishment or maintenance of cell polarity|microtubule cytoskeleton organization|protein localization in plasma membrane|response to osmotic stress	basolateral plasma membrane|microtubule|microtubule associated complex|nucleus|perinuclear region of cytoplasm	receptor binding|structural molecule activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(11)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00199)|OV - Ovarian serous cystadenocarcinoma(155;0.00643)		TCTTACCAGGGCCAACTTCTG	0.463													A	136686877	G	A	136686877	2	1	653	1	0	0	0	0	0	0	0	1	9341	1190	42	2		2	MAP7	6	136686877	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		136686877	34428190	12	52270											
ZNF273	10793	broad.mit.edu	37	chr7	64388965	64388966	+	Frame_Shift_Del	DEL	AT	AT	-																															gtccacaactcttactaaacAtaagagaatttatactaaag																										TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:64388965_64388966delAT	ENST00000476120.1	+	4	1330_1331	c.1259_1260delAT	c.(1258-1260)catfs	p.H420fs	ZNF273_ENST00000527278.1_3'UTR|ZNF273_ENST00000319636.5_Frame_Shift_Del_p.H355fs	NM_021148.2	NP_066971.2	Q14593	ZN273_HUMAN	zinc finger protein 273	420					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Lung NSC(55;0.0295)|all_lung(88;0.0691)				CTTACTAAACATAAGAGAATTT	0.337													-	64388966	AT	-	64388965	7	5	653	1	0	1	0	1	0	0	0	0	17909	217	8	0	1273	0	ZNF273	7	64388965	Frame_Shift_Del	DEL	AT	TCGA-P5-A736-01A-11D-A32B-08		64388965	94749698	13	52271											
PCLO	27445	broad.mit.edu	37	chr7	82595691	82595691	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatgattctgtaggaacaGgcataggagatgctttgggt	11	12	14	4	0	1	3	0	2	1	1	1	5	1	4	0	4	2	3	0	4	3	4			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:82595691G>T	ENST00000333891.9	-	4	3750	c.3413C>A	c.(3412-3414)cCt>cAt	p.P1138H	PCLO_ENST00000423517.2_Missense_Mutation_p.P1138H	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TGTAGGAACAGGCATAGGAGA	0.428													T	82595691	G	T	82595691	3	4	653	1	0	0	0	0	1	0	0	0	11659	1000	35	4	12120	4	PCLO	7	82595691	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	18206726	82595691	76542972	14	52272											
STEAP4	79689	broad.mit.edu	37	chr7	87913524	87913525	+	Frame_Shift_Del	DEL	TC	TC	-																															agttccaaaaatacatacagTctcttgcttttctgaagaat																										TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:87913524_87913525delTC	ENST00000380079.4	-	2	161_162	c.60_61delGA	c.(58-63)gagactfs	p.ET20fs	STEAP4_ENST00000414498.1_Frame_Shift_Del_p.ET20fs|STEAP4_ENST00000301959.5_Frame_Shift_Del_p.ET20fs|AC003991.3_ENST00000447758.1_RNA|AC003991.3_ENST00000600908.1_RNA|AC003991.3_ENST00000595121.1_RNA|AC003991.3_ENST00000434733.1_RNA	NM_001205315.1|NM_024636.3	NP_001192244.1|NP_078912.2	Q687X5	STEA4_HUMAN	STEAP family member 4	20					fat cell differentiation|ion transport|iron ion homeostasis	Golgi membrane|integral to membrane|plasma membrane	electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(3)	15	Esophageal squamous(14;0.00802)					ATACATACAGTCTCTTGCTTTT	0.347													-	87913525	TC	-	87913524	7	5	653	1	0	1	0	1	0	0	0	0	15376	1667	58	0	1334	0	STEAP4	7	87913524	Frame_Shift_Del	DEL	TC	TCGA-P5-A736-01A-11D-A32B-08	5317833	87913524	71225139	15	52273											
ARPC1A	10552	broad.mit.edu	37	chr7	98935818	98935818	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagagattgccctcagtCccaataatcacgaagtgcac	12	8	7	14	1	2	1	2	0	0	1	4	3	4	1	3	0	2	1	3	0	3	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:98935818C>A	ENST00000262942.5	+	3	203	c.79C>A	c.(79-81)Ccc>Acc	p.P27T	ARPC1A_ENST00000432884.2_5'UTR	NM_001190996.1|NM_006409.3	NP_001177925.1|NP_006400.2	Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	27					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			TGCCCTCAGTCCCAATAATCA	0.448													A	98935818	C	A	98935818	3	1	653	1	0	0	0	0	1	0	0	0	974	855	30	4	85	4	ARPC1A	7	98935818	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	11022294	98935818	60202845	16	52274											
IRF5	3663	broad.mit.edu	37	chr7	128587366	128587366	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccactctgcagccgccCactctgcggccgcctactct	4	7	8	22	4	3	0	0	0	3	0	3	0	3	0	6	1	4	1	6	1	1	1	rs60344245		TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr7:128587366C>T	ENST00000402030.2	+	6	588	c.516C>T	c.(514-516)ccC>ccT	p.P172P	IRF5_ENST00000357234.5_Silent_p.P188P|IRF5_ENST00000473745.1_Silent_p.P172P|IRF5_ENST00000477535.1_Intron|IRF5_ENST00000249375.4_Silent_p.P172P	NM_001098629.1|NM_001098630.1	NP_001092099.1|NP_001092100.1	Q13568	IRF5_HUMAN	interferon regulatory factor 5	172				EDVKWPPTLQPPTLR -> DAVQSGPHMTPYSLLKEDVKW (in Ref. 1; AAA96056).	interferon-gamma-mediated signaling pathway|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity	p.?(1)		breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(1)|prostate(1)	15						TGCAGCCGCCCACTCTGCGGC	0.657													T	128587366	C	T	128587366	2	4	653	1	0	0	0	0	0	0	0	1	7891	581	21	2		2	IRF5	7	128587366	Silent	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	29651548	128587366	30551297	17	52275											
KANK1	23189	broad.mit.edu	37	chr9	742321	742321	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gacgagggctccacggccctCatgtgtgccagcgagcacgg	7	5	15	14	4	1	0	1	0	0	0	2	3	2	0	3	3	3	2	3	3	0	0			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:742321C>G	ENST00000382303.1	+	14	4465	c.3813C>G	c.(3811-3813)ctC>ctG	p.L1271L	KANK1_ENST00000382297.2_Silent_p.L1271L|KANK1_ENST00000382293.3_Silent_p.L1113L|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	1271					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		CCACGGCCCTCATGTGTGCCA	0.602													G	742321	C	G	742321	2	3	653	1	0	0	0	0	0	0	0	1	8034	813	29	4		4	KANK1	9	742321	Silent	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		742321	140471110	18	52276											
DAB2IP	153090	broad.mit.edu	37	chr9	124530868	124530868	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggccgcgagctctccAgcctgcactcactgctctgg	5	8	11	17	2	3	0	1	0	2	0	4	1	3	0	4	2	4	3	4	2	0	0			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr9:124530868A>G	ENST00000408936.3	+	10	2037	c.1855A>G	c.(1855-1857)Agc>Ggc	p.S619G	DAB2IP_ENST00000309989.1_Missense_Mutation_p.S495G|DAB2IP_ENST00000259371.2_Missense_Mutation_p.S591G			Q5VWQ8	DAB2P_HUMAN	DAB2 interacting protein	619					activation of JUN kinase activity|apoptosis in response to endoplasmic reticulum stress|cellular response to epidermal growth factor stimulus|cellular response to tumor necrosis factor|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of epithelial cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of Ras GTPase activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|intrinsic to internal side of plasma membrane	14-3-3 protein binding|death receptor binding|mitogen-activated protein kinase kinase kinase binding|protein homodimerization activity|protein phosphatase 2A binding|Ras GTPase activator activity|signaling adaptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(8)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	27						CGAGCTCTCCAGCCTGCACTC	0.637													G	124530868	A	G	124530868	3	3	653	1	0	0	0	0	1	0	0	0	4253	188	7	3	1809	3	DAB2IP	9	124530868	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08	123788547	124530868	16682563	19	52277											
ANKRD30A	91074	broad.mit.edu	37	chr10	37454053	37454053	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatcagaatccaaacaaaaGgactatgaagaaaattcttg	19	8	6	8	0	2	3	1	1	1	2	3	4	3	4	2	1	1	0	2	1	8	3			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr10:37454053G>A	ENST00000374660.1	+	18	1965	c.1866G>A	c.(1864-1866)aaG>aaA	p.K622K	ANKRD30A_ENST00000602533.1_Silent_p.K622K|ANKRD30A_ENST00000361713.1_Silent_p.K622K			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	678						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CCAAACAAAAGGACTATGAAG	0.294													A	37454053	G	A	37454053	2	1	653	1	0	0	0	0	0	0	0	1	658	991	35	2		2	ANKRD30A	10	37454053	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		37454053	98080694	20	52278											
MGAT4C	25834	broad.mit.edu	37	chr12	86373300	86373300	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgcaaaatatcattttGccgatcttctgttccagtat	11	16	6	8	1	3	1	1	1	2	0	4	2	4	1	2	0	2	3	2	0	4	6			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:86373300G>A	ENST00000604798.1	-	8	2408	c.1204C>T	c.(1204-1206)Caa>Taa	p.Q402*	MGAT4C_ENST00000332156.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000552808.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000549405.2_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000548651.1_Nonsense_Mutation_p.Q402*|MGAT4C_ENST00000393205.2_Nonsense_Mutation_p.Q431*			Q9UBM8	MGT4C_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme C (putative)	402					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						ATATCATTTTGCCGATCTTCT	0.343													A	86373300	G	A	86373300	4	1	653	1	0	0	0	0	0	1	0	0	9622	1328	46	2	236	2	MGAT4C	12	86373300	Nonsense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		86373300	47478595	21	52279											
EEA1	8411	broad.mit.edu	37	chr12	93181751	93181751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagttgttttgtaatactgaTattttctctttctctgctgc	6	22	6	7	0	2	1	0	1	2	0	4	1	2	1	0	0	3	4	0	0	4	10			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93181751T>C	ENST00000322349.8	-	22	3306	c.3042A>G	c.(3040-3042)atA>atG	p.I1014M		NM_003566.3	NP_003557	Q15075	EEA1_HUMAN	early endosome antigen 1	1014	Gln/Glu/Lys-rich.				early endosome to late endosome transport|synaptic vesicle to endosome fusion|vesicle fusion	cytosol|early endosome membrane|extrinsic to plasma membrane|membrane fraction	1-phosphatidylinositol binding|calmodulin binding|GTP-dependent protein binding|protein homodimerization activity|zinc ion binding			endometrium(5)|kidney(5)|large_intestine(11)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	36						GTAATACTGATATTTTCTCTT	0.378													C	93181751	T	C	93181751	3	2	653	1	0	0	0	0	1	0	0	0	4960	1396	49	3	1225	3	EEA1	12	93181751	Missense_Mutation	SNP	T	TCGA-P5-A736-01A-11D-A32B-08	6808451	93181751	40670144	22	52280											
NUDT4	11163	broad.mit.edu	37	chr12	93793075	93793076	+	Frame_Shift_Del	DEL	AC	AC	-																															ccccagccaatggaaattctAcagtcccttcccttccggat																										TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr12:93793075_93793076delAC	ENST00000337179.5	+	5	906_907	c.466_467delAC	c.(466-468)acafs	p.T156fs	NUDT4_ENST00000549992.1_Frame_Shift_Del_p.T103fs|NUDT4_ENST00000415493.2_Frame_Shift_Del_p.T155fs|NUDT4_ENST00000547014.1_Frame_Shift_Del_p.T104fs|NUDT4_ENST00000548662.1_Frame_Shift_Del_p.T103fs	NM_199040.2	NP_950241.1	Q9NZJ9	NUDT4_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 4	155					calcium-mediated signaling|cyclic nucleotide metabolic process|cyclic-nucleotide-mediated signaling|intracellular transport|regulation of RNA export from nucleus	cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding			endometrium(2)|kidney(1)|lung(2)	5						TGGAAATTCTACAGTCCCTTCC	0.46													-	93793076	AC	-	93793075	7	5	653	1	0	1	0	1	0	0	0	0	10817	391	14	0	484	0	NUDT4	12	93793075	Frame_Shift_Del	DEL	AC	TCGA-P5-A736-01A-11D-A32B-08	611324	93793075	40058820	23	52281											
TRIM13	10206	broad.mit.edu	37	chr13	50586723	50586723	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgttatgcaagcatatgAcccagagatcaacaaactca	15	9	7	10	0	2	2	2	1	0	1	2	3	2	2	1	0	5	4	1	0	5	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:50586723A>C	ENST00000378182.3	+	2	1385	c.647A>C	c.(646-648)gAc>gCc	p.D216A	TRIM13_ENST00000420995.2_Missense_Mutation_p.D216A|TRIM13_ENST00000457662.2_Missense_Mutation_p.D216A|TRIM13_ENST00000298772.5_Missense_Mutation_p.D219A|TRIM13_ENST00000478111.1_Intron|TRIM13_ENST00000356017.4_Missense_Mutation_p.D219A	NM_001007278.1|NM_005798.3|NM_052811.2|NM_213590.1	NP_001007279.1|NP_005789.2|NP_434698.1|NP_998755.1	O60858	TRI13_HUMAN	tripartite motif containing 13	216					anatomical structure morphogenesis|ER-associated protein catabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination	cytoplasm|endoplasmic reticulum membrane|integral to membrane	protein binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(5)|lung(2)|ovary(2)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(7;3.41e-06)|Lung NSC(96;3.08e-05)|Breast(56;9.7e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.0207)|Myeloproliferative disorder(33;0.163)|Lung SC(185;0.187)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;1.53e-10)|COAD - Colon adenocarcinoma(199;0.205)		CAAGCATATGACCCAGAGATC	0.398													C	50586723	A	C	50586723	3	2	653	1	0	0	0	0	1	0	0	0	16589	275	10	5	662	5	TRIM13	13	50586723	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08		50586723	64583155	24	52282											
ABCC4	10257	broad.mit.edu	37	chr13	95686882	95686882	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgctgtttcagtgagggCagcggcttctgccttgccca	4	14	12	11	1	2	1	1	1	1	0	2	1	2	1	2	2	4	4	2	2	0	5			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr13:95686882C>T	ENST00000376887.4	-	30	3961	c.3847G>A	c.(3847-3849)Gcc>Acc	p.A1283T	ABCC4_ENST00000412704.1_Missense_Mutation_p.A1236T	NM_005845.3	NP_005836.2	O15439	MRP4_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 4	1283					platelet activation|platelet degranulation	integral to membrane|membrane fraction|plasma membrane|platelet dense granule membrane	15-hydroxyprostaglandin dehydrogenase (NAD+) activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|chloride channel activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	43	all_neural(89;0.0878)|Medulloblastoma(90;0.163)				Cefazolin(DB01327)	TCAGTGAGGGCAGCGGCTTCT	0.473													T	95686882	C	T	95686882	3	4	653	1	0	0	0	0	1	0	0	0	55	710	25	2	138	2	ABCC4	13	95686882	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	45100159	95686882	19482996	25	52283											
THSD4	79875	broad.mit.edu	37	chr15	72020908	72020908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgagaagtcgttctggaCgctccatcatcaatgggaac	10	9	10	12	2	3	1	2	1	1	1	5	4	4	3	2	2	1	2	2	2	3	1			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr15:72020908C>T	ENST00000355327.3	+	9	1512	c.1378C>T	c.(1378-1380)Cgc>Tgc	p.R460C	THSD4_ENST00000261862.6_Missense_Mutation_p.R460C|THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R100C			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	460						proteinaceous extracellular matrix	metalloendopeptidase activity	p.R460C(2)		breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						TCGTTCTGGACGCTCCATCAT	0.507													T	72020908	C	T	72020908	3	4	653	1	0	0	0	0	1	0	0	0	15978	536	19	1	1408	1	THSD4	15	72020908	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		72020908	30510484	26	52284											
CACNA1H	8912	broad.mit.edu	37	chr16	1262079	1262079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccggcagcaccaggaggCggaggaggcgcggcggcgag	7	1	22	11	6	0	0	0	0	0	0	0	4	0	3	2	8	2	2	2	8	0	0			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr16:1262079C>T	ENST00000348261.5	+	25	4948	c.4700C>T	c.(4699-4701)gCg>gTg	p.A1567V	CACNA1H_ENST00000358590.4_Missense_Mutation_p.A1567V|CACNA1H_ENST00000565831.1_Missense_Mutation_p.A1567V	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1567					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	CACCAGGAGGCGGAGGAGGCG	0.657													T	1262079	C	T	1262079	3	4	653	1	0	0	0	0	1	0	0	0	2571	768	27	1	4794	1	CACNA1H	16	1262079	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		1262079	89092674	27	52285											
TP53	7157	broad.mit.edu	37	chr17	7578262	7578262	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	cacgcaaatttccttccactCggataagatgctgaggaggg	11	9	11	10	2	0	2	0	1	0	1	3	4	2	4	2	3	1	2	2	3	2	3			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:7578262C>G	ENST00000420246.2	-	6	719	c.587G>C	c.(586-588)cGa>cCa	p.R196P	TP53_ENST00000455263.2_Missense_Mutation_p.R196P|TP53_ENST00000413465.2_Missense_Mutation_p.R196P|TP53_ENST00000445888.2_Missense_Mutation_p.R196P|TP53_ENST00000269305.4_Missense_Mutation_p.R196P|TP53_ENST00000359597.4_Missense_Mutation_p.R196P|TP53_ENST00000574684.1_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196P(18)|p.0?(8)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196Q(3)|p.R103P(2)|p.R64P(2)|p.I195fs*50(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.R196L(1)|p.P59_E66>Q(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)		TCCTTCCACTCGGATAAGATG	0.547		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)			G	7578262	C	G	7578262	3	3	653	1	0	0	0	0	1	0	0	0	16482	884	31	4	707	4	TP53	17	7578262	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		7578262	73616948	28	52286											
HELZ	9931	broad.mit.edu	37	chr17	65074523	65074523	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gctggcataggacatggcggGcttgccccccgcagagctct	6	7	14	14	2	1	1	0	0	1	1	1	2	1	2	3	4	2	5	3	4	1	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr17:65074523G>C	ENST00000358691.5	-	33	5840	c.5674C>G	c.(5674-5676)Ccc>Gcc	p.P1892A	HELZ_ENST00000580168.1_Missense_Mutation_p.P1893A	NM_014877.3	NP_055692			helicase with zinc finger											NS(1)|breast(5)|endometrium(9)|kidney(3)|large_intestine(11)|liver(1)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_cancers(12;1.24e-11)|Breast(2;1.05e-17)|all_epithelial(3;3.87e-13)					GACATGGCGGGCTTGCCCCCC	0.627													C	65074523	G	C	65074523	3	2	653	1	0	0	0	0	1	0	0	0	7104	1203	42	4	158	4	HELZ	17	65074523	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	57496261	65074523	16120687	29	52287											
SERPINB12	89777	broad.mit.edu	37	chr18	61228381	61228381	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtgttgatttccaaaaaAaccctgaaaaatccagacaa	20	8	5	8	0	0	3	0	2	0	1	2	3	2	3	3	0	1	1	3	0	7	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:61228381A>C	ENST00000382768.1	+	4	508	c.508A>C	c.(508-510)Aac>Cac	p.N170H	SERPINB12_ENST00000269491.1_Missense_Mutation_p.N150H			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	150					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						TTTCCAAAAAAACCCTGAAAA	0.368													C	61228381	A	C	61228381	3	2	653	1	0	0	0	0	1	0	0	0	14192	14	1	5	462	5	SERPINB12	18	61228381	Missense_Mutation	SNP	A	TCGA-P5-A736-01A-11D-A32B-08		61228381	16848867	30	52288											
RTTN	25914	broad.mit.edu	37	chr18	67872445	67872446	+	Frame_Shift_Del	DEL	AA	AA	-																															aaccattccagcaaatgaagAaaaagttgcctctcctgaat																										TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr18:67872445_67872446delAA	ENST00000255674.6	-	2	423_424	c.137_138delTT	c.(136-138)tttfs	p.F46fs	RTTN_ENST00000454359.1_Frame_Shift_Del_p.F46fs|RTTN_ENST00000437017.1_Frame_Shift_Del_p.F46fs	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	46							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				GCAAATGAAGAAAAAGTTGCCT	0.455													-	67872446	AA	-	67872445	7	5	653	1	0	1	0	1	0	0	0	0	13828	243	9	0	6734	0	RTTN	18	67872445	Frame_Shift_Del	DEL	AA	TCGA-P5-A736-01A-11D-A32B-08	6644064	67872445	10204803	31	52289											
CD209	30835	broad.mit.edu	37	chr19	7808071	7808071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccattgccactaaattccgCgcagtcttcctccccaacgt	8	10	6	17	3	1	0	0	0	1	0	4	0	4	0	6	0	2	1	6	0	3	4			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:7808071C>T	ENST00000315599.7	-	7	1091	c.1069G>A	c.(1069-1071)Gcg>Acg	p.A357T	CD209_ENST00000204801.8_Missense_Mutation_p.A313T|CD209_ENST00000602261.1_Missense_Mutation_p.A265T|CD209_ENST00000394161.5_Missense_Mutation_p.A121T|CD209_ENST00000394173.4_Missense_Mutation_p.A196T|CD209_ENST00000315591.8_Missense_Mutation_p.A333T|CD209_ENST00000601256.1_Missense_Mutation_p.R295H|CD209_ENST00000593821.1_Missense_Mutation_p.A221T|CD209_ENST00000601951.1_Missense_Mutation_p.A333T|CD209_ENST00000301357.8_Missense_Mutation_p.A221T|CD209_ENST00000354397.6_Missense_Mutation_p.A351T|CD209_ENST00000593660.1_Missense_Mutation_p.A287T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	357	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding			endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTAAATTCCGCGCAGTCTTCC	0.527													T	7808071	C	T	7808071	3	4	653	1	0	0	0	0	1	0	0	0	3014	768	27	1	149	1	CD209	19	7808071	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		7808071	51320912	32	52290											
ZNF442	79973	broad.mit.edu	37	chr19	12460800	12460800	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccagtgtgaatcctttcatgGacttttaagttaccaaaatg	12	14	7	8	0	1	1	1	1	0	0	2	2	2	2	3	1	1	1	3	1	5	4			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:12460800G>A	ENST00000242804.4	-	6	2181	c.1599C>T	c.(1597-1599)gtC>gtT	p.V533V	ZNF442_ENST00000438182.1_Silent_p.V464V	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						TCCTTTCATGGACTTTTAAGT	0.388													A	12460800	G	A	12460800	2	1	653	1	0	0	0	0	0	0	0	1	18016	1161	41	2		2	ZNF442	19	12460800	Silent	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	4652729	12460800	46668183	33	52291											
FAM129C	199786	broad.mit.edu	37	chr19	17641666	17641666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgggccctcaggagcCgaccggaagccagttgctac	9	5	14	13	2	1	1	1	0	0	1	1	4	1	3	4	3	5	3	4	3	2	2			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:17641666C>T	ENST00000335393.4	+	3	389	c.251C>T	c.(250-252)cCg>cTg	p.P84L	FAM129C_ENST00000449408.2_Intron|FAM129C_ENST00000595684.1_Missense_Mutation_p.P84L|FAM129C_ENST00000601861.1_Missense_Mutation_p.P53L|FAM129C_ENST00000352727.3_Missense_Mutation_p.P84L|FAM129C_ENST00000599164.1_Missense_Mutation_p.P53L|FAM129C_ENST00000600871.1_Intron|FAM129C_ENST00000332386.5_Missense_Mutation_p.P84L|FAM129C_ENST00000300971.2_Missense_Mutation_p.P84L|FAM129C_ENST00000597887.1_Intron|FAM129C_ENST00000599124.1_Missense_Mutation_p.P53L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	84										autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						CCTCAGGAGCCGACCGGAAGC	0.637													T	17641666	C	T	17641666	3	4	653	1	0	0	0	0	1	0	0	0	5483	652	23	1	261	1	FAM129C	19	17641666	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08	5180866	17641666	41487317	34	52292											
SNRNP70	6625	broad.mit.edu	37	chr19	49611507	49611507	+	Frame_Shift_Del	DEL	G	G	-																															ccgggatcgtgaccgtgaccGtgaccgcgagcacaaacggg																										TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:49611507delG	ENST00000221448.5	+	10	1290	c.1094delG	c.(1093-1095)cgtfs	p.R365fs	SNRNP70_ENST00000598441.1_Frame_Shift_Del_p.R374fs	NM_003089.4	NP_003080.2	P08621	RU17_HUMAN	small nuclear ribonucleoprotein 70kDa (U1)	374	Arg/Asp/Glu-rich (mixed charge).				nuclear mRNA splicing, via spliceosome|regulation of RNA splicing	nucleoplasm|spliceosomal complex	nucleotide binding|protein binding|RNA binding			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|skin(2)	12						gaccgtgaccgtgaccgcgag	0.741													-	49611507	G	-	49611507	7	5	653	1	0	1	0	1	0	0	0	0	14952	1145	40	0	1155	0	SNRNP70	19	49611507	Frame_Shift_Del	DEL	G	TCGA-P5-A736-01A-11D-A32B-08	31969841	49611507	9517476	35	52293											
NLRP8	126205	broad.mit.edu	37	chr19	56465952	56465954	+	In_Frame_Del	DEL	CTT	CTT	-																															tggcctggaaaccagagggaCttcttctaccaaggtgtaca																										TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr19:56465952_56465954delCTT	ENST00000291971.3	+	3	599_601	c.528_530delCTT	c.(526-531)gacttc>gac	p.F178del	NLRP8_ENST00000590542.1_In_Frame_Del_p.F178del	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	178						cytoplasm	ATP binding	p.F178delF(1)		breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		ACCAGAGGGACTTCTTCTACCAA	0.483													-	56465954	CTT	-	56465952	7	5	653	1	0	1	0	1	0	0	0	0	10559	564	20	0	538	0	NLRP8	19	56465952	In_Frame_Del	DEL	CTT	TCGA-P5-A736-01A-11D-A32B-08	6854445	56465952	2663031	36	52294											
ITSN1	6453	broad.mit.edu	37	chr21	35153849	35153849	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagttcagcagaacagtttgCacagtaggtgttttattttt	11	16	9	5	0	1	1	1	0	0	1	1	1	1	1	0	1	3	6	0	1	4	7			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chr21:35153849C>T	ENST00000381318.3	+	15	1969	c.1681C>T	c.(1681-1683)Cac>Tac	p.H561Y	ITSN1_ENST00000381291.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399352.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000399355.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000399353.1_Missense_Mutation_p.H524Y|ITSN1_ENST00000399338.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399367.3_Missense_Mutation_p.H561Y|ITSN1_ENST00000379960.5_Missense_Mutation_p.H561Y|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399349.1_Missense_Mutation_p.H561Y|ITSN1_ENST00000437442.2_Missense_Mutation_p.H561Y|ITSN1_ENST00000381285.4_Missense_Mutation_p.H561Y|ITSN1_ENST00000399326.3_Missense_Mutation_p.H561Y	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	561	KLERQ.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						GAACAGTTTGCACAGTAGGTG	0.408													T	35153849	C	T	35153849	3	4	653	1	0	0	0	0	1	0	0	0	7984	710	25	2	1735	2	ITSN1	21	35153849	Missense_Mutation	SNP	C	TCGA-P5-A736-01A-11D-A32B-08		35153849	12976046	37	52295											
MTMR8	55613	broad.mit.edu	37	chrX	63579299	63579299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acatacccatgtttctttccGggctgcacctgaagcctcca	8	11	7	15	1	1	1	0	1	1	0	3	1	3	1	5	1	3	3	5	1	2	3			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:63579299G>A	ENST00000374852.3	-	2	200	c.133C>T	c.(133-135)Cgg>Tgg	p.R45W	MTMR8_ENST00000453546.1_Missense_Mutation_p.R45W	NM_017677.3	NP_060147.2	Q96EF0	MTMR8_HUMAN	myotubularin related protein 8	45						nuclear envelope	protein tyrosine phosphatase activity	p.0?(1)		breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(2)|skin(3)	37						GTTTCTTTCCGGGCTGCACCT	0.408													A	63579299	G	A	63579299	3	1	653	1	0	0	0	0	1	0	0	0	10025	1115	39	1	2033	1	MTMR8	23	63579299	Missense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08		63579299	91691261	38	52296											
ATRX	546	broad.mit.edu	37	chrX	76778806	76778807	+	Frame_Shift_Del	DEL	AA	AA	-																															cttcttcttctttgtggtccAaaagagaatcatgttcatgg																										TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76778806_76778807delAA	ENST00000373344.5	-	31	6986_6987	c.6772_6773delTT	c.(6772-6774)ttgfs	p.L2258fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.L2220fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2258					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			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)	TTTGTGGTCCAAAAGAGAATCA	0.386			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76778807	AA	-	76778806	7	5	653	1	0	1	0	1	0	0	0	0	1213	131	5	0	725	0	ATRX	23	76778806	Frame_Shift_Del	DEL	AA	TCGA-P5-A736-01A-11D-A32B-08	13199507	76778806	78491754	39	52297											
ATRX	546	broad.mit.edu	37	chrX	76829760	76829760	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cttcagcccacttcttccttGactgtgcagtagtggaacca	8	12	8	13	0	2	1	1	1	1	0	3	2	3	2	3	1	3	2	3	1	2	5			TCGA-P5-A736-01A-11D-A32B-08	TCGA-P5-A736-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	89e1079c-5dcf-4dac-a07b-11248c71f628	564f1744-0931-4af6-8a24-5bf77a17f456	g.chrX:76829760G>C	ENST00000373344.5	-	28	6495	c.6281C>G	c.(6280-6282)tCa>tGa	p.S2094*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.S2056*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2094	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)	CTTCTTCCTTGACTGTGCAGT	0.313			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76829760	G	C	76829760	4	2	653	1	0	0	0	0	0	1	0	0	1213	1294	45	4	1229	4	ATRX	23	76829760	Nonsense_Mutation	SNP	G	TCGA-P5-A736-01A-11D-A32B-08	50954	76829760	78440800	40	52298											
AHDC1	27245	broad.mit.edu	37	chr1	27875316	27875316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaaaggccactgagaagccCccgcaaactgccgacagttc	12	4	11	14	2	0	1	0	1	0	1	1	4	0	2	4	2	3	2	4	2	3	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:27875316C>T	ENST00000374011.2	-	6	4279	c.3311G>A	c.(3310-3312)gGg>gAg	p.G1104E	AHDC1_ENST00000247087.5_Missense_Mutation_p.G1104E	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	1104							DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		CTGAGAAGCCCCCGCAAACTG	0.637													T	27875316	C	T	27875316	3	4	654	1	0	0	0	0	1	0	0	0	412	623	22	2	1504	2	AHDC1	1	27875316	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		27875316	221375305	1	52299											
KPRP	448834	broad.mit.edu	37	chr1	152732999	152732999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagtcgctgtcctcgccGccccatttcaagctgctctc	6	11	7	17	3	2	0	1	0	1	0	6	0	3	0	4	0	3	3	4	0	2	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:152732999G>A	ENST00000368773.1	+	2	993	c.935G>A	c.(934-936)cGc>cAc	p.R312H	KPRP_ENST00000606109.1_Missense_Mutation_p.R312H	NM_001025231.1	NP_001020402.1	Q5T749	KPRP_HUMAN	keratinocyte proline-rich protein	312	Pro-rich.					cytoplasm				NS(1)|breast(1)|endometrium(9)|kidney(1)|large_intestine(10)|lung(21)|ovary(6)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGTCCTCGCCGCCCCATTTCA	0.592													A	152732999	G	A	152732999	3	1	654	1	0	0	0	0	1	0	0	0	8494	1087	38	1	937	1	KPRP	1	152732999	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	124857683	152732999	96517622	2	52300											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	11	9	12	9	1	2	1	2	0	0	1	3	3	2	1	1	2	3	2	1	2	3	4	rs149372418	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													A	168510202	G	A	168510202	2	1	654	1	0	0	0	0	0	0	0	1	17526	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	15777203	168510202	80740419	3	52301											
OR14I1	401994	broad.mit.edu	37	chr1	248844917	248844917	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggcttttgctcgactcTgtcctgaagggattctgagc	8	12	12	9	1	2	3	0	2	2	1	4	5	3	4	1	2	2	2	1	2	2	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr1:248844917T>C	ENST00000342623.3	-	1	712	c.689A>G	c.(688-690)cAg>cGg	p.Q230R		NM_001004734.1	NP_001004734.1	A6ND48	O14I1_HUMAN	olfactory receptor, family 14, subfamily I, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(4)|large_intestine(2)|lung(24)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	35						TGCTCGACTCTGTCCTGAAGG	0.493													C	248844917	T	C	248844917	3	2	654	1	0	0	0	0	1	0	0	0	11023	1580	55	3	250	3	OR14I1	1	248844917	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	80334715	248844917	405704	4	52302											
DHRS9	10170	broad.mit.edu	37	chr2	169939889	169939889	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccggcgtgctggctcccActgactggctgacactagag	6	9	12	14	2	0	3	0	2	0	1	2	3	2	3	2	3	1	3	2	3	1	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:169939889A>C	ENST00000327239.4	+	6	1868	c.364A>C	c.(364-366)Act>Cct	p.T122P	DHRS9_ENST00000412271.1_Missense_Mutation_p.T122P|DHRS9_ENST00000436483.2_Missense_Mutation_p.T122P|DHRS9_ENST00000421653.1_5'UTR|DHRS9_ENST00000428522.1_Missense_Mutation_p.T122P|DHRS9_ENST00000357546.2_Missense_Mutation_p.T122P|DHRS9_ENST00000602501.1_Missense_Mutation_p.T122P|DHRS9_ENST00000432060.2_Missense_Mutation_p.T182P	NM_005771.4	NP_005762.2	Q9BPW9	DHRS9_HUMAN	dehydrogenase/reductase (SDR family) member 9	122					9-cis-retinoic acid biosynthetic process|androgen metabolic process|epithelial cell differentiation|progesterone metabolic process|retinol metabolic process	integral to endoplasmic reticulum membrane|microsome	alcohol dehydrogenase (NAD) activity|binding|racemase and epimerase activity|retinol dehydrogenase activity|testosterone dehydrogenase (NAD+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						GCTGGCTCCCACTGACTGGCT	0.473													C	169939889	A	C	169939889	3	2	654	1	0	0	0	0	1	0	0	0	4537	159	6	5	370	5	DHRS9	2	169939889	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		169939889	73259484	5	52303											
FSIP2	401024	broad.mit.edu	37	chr2	186673362	186673362	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaattttattatgatatAaaagatacaaatacagcctt	20	13	4	4	0	0	3	0	1	0	2	0	3	0	3	1	0	3	0	1	0	10	8			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:186673362A>G	ENST00000343098.5	+	17	19596	c.19596A>G	c.(19594-19596)atA>atG	p.I6532M	FSIP2_ENST00000424728.1_Missense_Mutation_p.I6443M	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						ATTATGATATAAAAGATACAA	0.289													G	186673362	A	G	186673362	3	3	654	1	0	0	0	0	1	0	0	0	6127	352	13	3	19662	3	FSIP2	2	186673362	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08	16733473	186673362	56526011	6	52304											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	654	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	22439750	209113112	34086261	7	52305											
SS18L2	51188	broad.mit.edu	37	chr3	42632448	42632448	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggaagtcaatcaagagaCtatccagcgggtgagcatcc	12	6	13	10	2	2	2	2	1	0	1	4	4	4	3	2	3	2	1	2	3	4	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr3:42632448C>T	ENST00000447630.1	+	2	267	c.59C>T	c.(58-60)aCt>aTt	p.T20I	SEC22C_ENST00000417572.1_Intron|SS18L2_ENST00000011691.4_Missense_Mutation_p.T20I			Q9UHA2	S18L2_HUMAN	synovial sarcoma translocation gene on chromosome 18-like 2	20										prostate(1)	1				KIRC - Kidney renal clear cell carcinoma(284;0.214)		AATCAAGAGACTATCCAGCGG	0.667													T	42632448	C	T	42632448	3	4	654	1	0	0	0	0	1	0	0	0	15273	565	20	2	61	2	SS18L2	3	42632448	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		42632448	155389982	8	52306											
ZNF721	170960	broad.mit.edu	37	chr4	436239	436239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccaaaggctttgccacactCttcacatttgtaactttgct	9	15	5	12	0	2	0	1	0	1	0	3	0	3	0	2	1	3	3	2	1	2	5			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:436239C>T	ENST00000338977.5	-	2	2029	c.1981G>A	c.(1981-1983)Gag>Aag	p.E661K	ZNF721_ENST00000506646.1_Intron|ABCA11P_ENST00000451020.2_RNA|ZNF721_ENST00000507078.1_Intron|ZNF721_ENST00000511833.2_Missense_Mutation_p.E673K					zinc finger protein 721											endometrium(2)|kidney(2)|large_intestine(15)|lung(6)|ovary(1)|skin(1)|stomach(5)|urinary_tract(1)	33						TTGCCACACTCTTCACATTTG	0.418													T	436239	C	T	436239	3	4	654	1	0	0	0	0	1	0	0	0	18223	922	32	2	758	2	ZNF721	4	436239	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		436239	190718037	9	52307											
SLC34A2	10568	broad.mit.edu	37	chr4	25678090	25678090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttcctgccgctgtggatgCgctcgctgaagccctgggat	5	10	13	13	3	0	1	0	1	0	0	2	3	1	3	3	2	3	3	3	2	1	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:25678090C>T	ENST00000382051.3	+	13	1842	c.1792C>T	c.(1792-1794)Cgc>Tgc	p.R598C	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R597C|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R597C	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	598					cellular phosphate ion homeostasis	apical plasma membrane|brush border membrane|integral to plasma membrane	phosphate binding|sodium ion binding|sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity	p.R598C(1)	SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCTGTGGATGCGCTCGCTGAA	0.632			T	ROS1	NSCLC								T	25678090	C	T	25678090	3	4	654	1	0	0	0	0	1	0	0	0	14662	768	27	1	1838	1	SLC34A2	4	25678090	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	25241851	25678090	165476186	10	52308											
KIAA1211	57482	broad.mit.edu	37	chr4	57179385	57179385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccgttaaaccgtctcGgccaaaaaggcacttctctt	9	11	7	14	3	2	0	0	0	2	0	5	0	3	0	3	2	2	3	3	2	4	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr4:57179385G>A	ENST00000504228.1	+	5	482	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	KIAA1211_ENST00000541073.1_Missense_Mutation_p.R119Q|KIAA1211_ENST00000264229.6_Missense_Mutation_p.R126Q			Q6ZU35	K1211_HUMAN	KIAA1211	126										endometrium(7)|large_intestine(10)|lung(39)|ovary(2)|prostate(3)|skin(3)|stomach(1)	65	Glioma(25;0.08)|all_neural(26;0.101)					AAACCGTCTCGGCCAAAAAGG	0.537													A	57179385	G	A	57179385	3	1	654	1	0	0	0	0	1	0	0	0	8273	1116	39	1	391	1	KIAA1211	4	57179385	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	31501295	57179385	133974891	11	52309											
MAST4	375449	broad.mit.edu	37	chr5	66055567	66055567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tattatcccctccacccatgCcgtttcggaaatgcagcaac	10	10	6	15	2	0	0	0	0	0	0	3	1	2	1	5	1	4	3	5	1	4	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr5:66055567C>T	ENST00000404260.3	+	2	702	c.394C>T	c.(394-396)Ccg>Tcg	p.P132S	MAST4_ENST00000406039.1_Missense_Mutation_p.P132S|MAST4_ENST00000478569.1_3'UTR|MAST4_ENST00000406374.1_Missense_Mutation_p.P132S|MAST4_ENST00000403625.2_Missense_Mutation_p.P132S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	132						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TCCACCCATGCCGTTTCGGAA	0.488													T	66055567	C	T	66055567	3	4	654	1	0	0	0	0	1	0	0	0	9402	739	26	2	400	2	MAST4	5	66055567	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		66055567	114859693	12	52310											
HIST1H1T	3010	broad.mit.edu	37	chr6	26107808	26107808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttgcttacccttggctcCtttagcctttctcccgctcc	2	16	6	17	1	1	0	0	0	1	0	4	0	3	0	5	1	3	4	5	1	2	6			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:26107808C>T	ENST00000338379.4	-	1	556	c.514G>A	c.(514-516)Gga>Aga	p.G172R		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	172					cell differentiation|multicellular organismal development|nucleosome assembly|spermatogenesis	nucleosome	DNA binding			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						CCCTTGGCTCCTTTAGCCTTT	0.478													T	26107808	C	T	26107808	3	4	654	1	0	0	0	0	1	0	0	0	7182	690	24	2	113	2	HIST1H1T	6	26107808	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		26107808	145007259	13	52311											
PHIP	55023	broad.mit.edu	37	chr6	79770432	79770432	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagctcctaataaagttTgtactccaggaacactttga	12	13	6	10	0	0	1	0	1	0	0	3	2	3	2	3	1	3	3	3	1	5	6			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr6:79770432T>G	ENST00000275034.4	-	5	460	c.293A>C	c.(292-294)cAa>cCa	p.Q98P		NM_017934.5	NP_060404	Q8WWQ0	PHIP_HUMAN	pleckstrin homology domain interacting protein	98					insulin receptor signaling pathway|negative regulation of apoptosis|positive regulation of cell proliferation|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of mitosis	nucleus	insulin receptor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(10)|kidney(4)|large_intestine(20)|lung(20)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	68		all_cancers(76;0.00125)|Acute lymphoblastic leukemia(125;1.1e-05)|all_hematologic(105;0.00117)|all_epithelial(107;0.219)		BRCA - Breast invasive adenocarcinoma(397;0.231)		TAATAAAGTTTGTACTCCAGG	0.343													G	79770432	T	G	79770432	3	3	654	1	0	0	0	0	1	0	0	0	11919	1812	63	5	5316	5	PHIP	6	79770432	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	53662624	79770432	91344635	14	52312											
ABCA13	154664	broad.mit.edu	37	chr7	48311922	48311922	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attggcctaaatcaccagctAtgaacatagattttgtacgt	13	13	7	8	1	1	2	1	1	0	1	1	2	1	2	2	1	3	2	2	1	6	7			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr7:48311922A>G	ENST00000435803.1	+	17	2683	c.2659A>G	c.(2659-2661)Atg>Gtg	p.M887V		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	887					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						ATCACCAGCTATGAACATAGA	0.353													G	48311922	A	G	48311922	3	3	654	1	0	0	0	0	1	0	0	0	31	449	16	3	2554	3	ABCA13	7	48311922	Missense_Mutation	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		48311922	110826741	15	52313											
OR13C5	138799	broad.mit.edu	37	chr9	107361002	107361002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggtttgcttctcccctcCgaagagctaattttgaagat	10	13	9	9	1	1	3	0	1	1	2	3	5	2	3	3	1	2	3	3	1	4	5	rs78992791	byFrequency	TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:107361002C>T	ENST00000374779.2	-	1	786	c.693G>A	c.(691-693)tcG>tcA	p.S231S		NM_001004482.1	NP_001004482.1	Q8NGS8	O13C5_HUMAN	olfactory receptor, family 13, subfamily C, member 5	231					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(4)	28						TTCTCCCCTCCGAAGAGCTAA	0.428													T	107361002	C	T	107361002	2	4	654	1	0	0	0	0	0	0	0	1	11013	639	23	1		1	OR13C5	9	107361002	Silent	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		107361002	33852429	16	52314											
HDHD3	81932	broad.mit.edu	37	chr9	116136675	116136675	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgcctcaggtcccaCggtgggtcccaggggaagct	6	8	14	13	1	2	0	1	0	1	0	4	1	4	1	3	5	2	2	3	5	1	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:116136675C>T	ENST00000238379.5	-	0	857				HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_De_novo_Start_OutOfFrame	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3								phosphoglycolate phosphatase activity|protein binding			large_intestine(2)|liver(1)	3						TCAGGTCCCACGGTGGGTCCC	0.587													T	116136675	C	T	116136675	1	4	654	1	0	0	0	0	0	0	0	0	7079	551	19	1		1	HDHD3	9	116136675	Translation_Start_Site	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	8775673	116136675	25076756	17	52315											
WDR38	401551	broad.mit.edu	37	chr9	127618017	127618017	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggcaagagcgaagtgtctgCgggtcctgaagggtgagtga	9	8	18	6	2	1	4	0	3	1	1	2	5	2	4	1	3	2	1	1	3	3	0			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr9:127618017C>T	ENST00000373574.1	+	3	351	c.295C>T	c.(295-297)Cgg>Tgg	p.R99W		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	99										breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						GAAGTGTCTGCGGGTCCTGAA	0.617											OREG0019485	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	127618017	C	T	127618017	3	4	654	1	0	0	0	0	1	0	0	0	17394	759	27	1	305	1	WDR38	9	127618017	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08	11481342	127618017	13595414	18	52316											
OR4C15	81309	broad.mit.edu	37	chr11	55322861	55322861	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatggaacagactgatggTggtttctgatgagaaagaaa	16	10	12	3	0	1	5	0	3	1	3	1	7	1	6	0	3	1	1	0	3	5	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:55322861T>C	ENST00000314644.2	+	1	1079	c.1079T>C	c.(1078-1080)gTg>gCg	p.V360A		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	306					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						AGACTGATGGTGGTTTCTGAT	0.303										HNSCC(20;0.049)			C	55322861	T	C	55322861	3	2	654	1	0	0	0	0	1	0	0	0	11124	1696	59	3	1081	3	OR4C15	11	55322861	Missense_Mutation	SNP	T	TCGA-P5-A737-01A-11D-A32B-08		55322861	79683655	19	52317											
GIF	2694	broad.mit.edu	37	chr11	59612897	59612897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagctgtagcccagagaagGctcaggaggtagagggcaaa	13	4	15	9	0	1	2	1	0	0	2	1	4	1	3	2	4	2	5	2	4	4	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr11:59612897G>A	ENST00000257248.2	-	1	77	c.30C>T	c.(28-30)agC>agT	p.S10S	GIF_ENST00000541311.1_5'UTR	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	10					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						CCCAGAGAAGGCTCAGGAGGT	0.512													A	59612897	G	A	59612897	2	1	654	1	0	0	0	0	0	0	0	1	6432	1194	42	2		2	GIF	11	59612897	Silent	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	4290036	59612897	75393619	20	52318											
SLC38A2	54407	broad.mit.edu	37	chr12	46758436	46758436	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatacccaccacaatcagAaagaacaccatacacaacaa	21	4	2	14	0	2	2	2	0	0	2	2	2	2	2	3	0	4	0	3	0	7	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr12:46758436A>G	ENST00000256689.5	-	9	1140	c.696T>C	c.(694-696)ttT>ttC	p.F232F	SLC38A2_ENST00000547252.1_5'UTR|SLC38A2_ENST00000551374.1_Silent_p.F70F	NM_018976.4	NP_061849.2	Q96QD8	S38A2_HUMAN	solute carrier family 38, member 2	232					cellular nitrogen compound metabolic process|glutamate secretion|neurotransmitter secretion|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	18	Lung SC(27;0.192)|Renal(347;0.236)		OV - Ovarian serous cystadenocarcinoma(5;0.0048)|Epithelial(2;0.0374)	GBM - Glioblastoma multiforme(48;0.226)		CCACAATCAGAAAGAACACCA	0.328													G	46758436	A	G	46758436	2	3	654	1	0	0	0	0	0	0	0	1	14698	243	9	3		3	SLC38A2	12	46758436	Silent	SNP	A	TCGA-P5-A737-01A-11D-A32B-08		46758436	87093459	21	52319											
ZFYVE1	53349	broad.mit.edu	37	chr14	73491039	73491039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccaggtttgagtcttatccGctcatggtttctcaggcgct	5	14	11	11	2	3	1	2	1	2	0	5	1	4	1	2	3	0	4	2	3	1	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr14:73491039G>A	ENST00000556143.1	-	2	898	c.178C>T	c.(178-180)Cgg>Tgg	p.R60W	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.R60W|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.R60W	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	60						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		AGTCTTATCCGCTCATGGTTT	0.547													A	73491039	G	A	73491039	3	1	654	1	0	0	0	0	1	0	0	0	17764	1086	38	1	2199	1	ZFYVE1	14	73491039	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		73491039	33858501	22	52320											
OCA2	4948	broad.mit.edu	37	chr15	28202829	28202829	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtctcctcgcggctggcCgggctgatgcgctgagcagt	3	9	16	13	4	1	2	0	2	1	0	3	2	1	2	2	3	2	5	2	3	0	0			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:28202829C>T	ENST00000354638.3	-	16	1844	c.1689G>A	c.(1687-1689)ccG>ccA	p.P563P	OCA2_ENST00000353809.5_Silent_p.P539P|OCA2_ENST00000382996.2_Silent_p.P563P	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	563					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGCGGCTGGCCGGGCTGATGC	0.632									Oculocutaneous Albinism				T	28202829	C	T	28202829	2	4	654	1	0	0	0	0	0	0	0	1	10891	639	23	1		1	OCA2	15	28202829	Silent	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		28202829	74328563	23	52321											
PRTG	283659	broad.mit.edu	37	chr15	55916585	55916585	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgatcattggcattaaagaTtcttcatttcctacagctcc	11	15	5	10	0	3	2	2	1	1	1	5	2	5	2	2	1	2	2	2	1	3	6			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:55916585T>C	ENST00000389286.4	-	18	3095	c.3048A>G	c.(3046-3048)gaA>gaG	p.E1016E		NM_173814.4	NP_776175.2	Q2VWP7	PRTG_HUMAN	protogenin	1016					multicellular organismal development	integral to membrane				breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		GCATTAAAGATTCTTCATTTC	0.473													C	55916585	T	C	55916585	2	2	654	1	0	0	0	0	0	0	0	1	12723	1490	52	3		3	PRTG	15	55916585	Silent	SNP	T	TCGA-P5-A737-01A-11D-A32B-08	27713756	55916585	46614807	24	52322											
TTC23	64927	broad.mit.edu	37	chr15	99678297	99678297	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaggccactttggcttttGatgcctgccttggcttcgaa	7	13	11	10	1	0	2	0	1	0	1	1	3	0	2	3	3	2	2	3	3	2	5			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr15:99678297G>C	ENST00000394132.2	-	14	2079	c.1262C>G	c.(1261-1263)tCa>tGa	p.S421*	TTC23_ENST00000558613.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000394135.3_Nonsense_Mutation_p.S421*|TTC23_ENST00000394136.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000558663.1_Nonsense_Mutation_p.S421*|TTC23_ENST00000262074.4_Nonsense_Mutation_p.S421*			Q5W5X9	TTC23_HUMAN	tetratricopeptide repeat domain 23	421							binding			endometrium(2)|large_intestine(3)|lung(9)|urinary_tract(2)	16	all_cancers(4;1.49e-13)|Lung NSC(78;0.000545)|all_lung(78;0.00121)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		all cancers(5;8.11e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00215)			TTTGGCTTTTGATGCCTGCCT	0.637													C	99678297	G	C	99678297	4	2	654	1	0	0	0	0	0	1	0	0	16792	1294	45	4	85	4	TTC23	15	99678297	Nonsense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08	43761712	99678297	2853095	25	52323											
NLRC3	197358	broad.mit.edu	37	chr16	3606946	3606946	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgcggttgatcttcaaagCgtctgccagcgccttggccc	5	10	13	13	3	3	1	1	1	2	0	3	1	3	1	3	3	4	1	3	3	1	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr16:3606946C>T	ENST00000301749.7	-	0	2554				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						ATCTTCAAAGCGTCTGCCAGC	0.582													T	3606946	C	T	3606946	1	4	654	0	1	0	0	0	0	0	0	0	10544	768	27	1		1	NLRC3	16	3606946	RNA	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		3606946	86747807	26	52324											
ZNF333	84449	broad.mit.edu	37	chr19	14830055	14830055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actcactgtacacaaaagaaCccatgtgggaagagagacca	17	5	9	10	0	1	3	1	0	0	3	1	5	1	4	2	1	2	1	2	1	5	1			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:14830055C>G	ENST00000292530.6	+	12	2007	c.1916C>G	c.(1915-1917)aCc>aGc	p.T639S	ZNF333_ENST00000540689.2_Intron|ZNF333_ENST00000536363.1_Missense_Mutation_p.T530S	NM_032433.2	NP_115809.1	Q96JL9	ZN333_HUMAN	zinc finger protein 333	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|prostate(1)	21						CACAAAAGAACCCATGTGGGA	0.453													G	14830055	C	G	14830055	3	3	654	1	0	0	0	0	1	0	0	0	17951	507	18	4	1958	4	ZNF333	19	14830055	Missense_Mutation	SNP	C	TCGA-P5-A737-01A-11D-A32B-08		14830055	44298928	27	52325											
ZNF444	55311	broad.mit.edu	37	chr19	56658436	56658436	+	Frame_Shift_Del	DEL	G	G	-																															cgggactggctgcggcccgaGgtgcacaccaaggagcagat																										TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr19:56658436delG	ENST00000337080.3	+	3	523	c.156delG	c.(154-156)gagfs	p.E52fs	ZNF444_ENST00000592949.1_Frame_Shift_Del_p.E52fs	NM_001253792.1|NM_018337.3	NP_001240721.1|NP_060807.2	Q8N0Y2	ZN444_HUMAN	zinc finger protein 444	52	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(1)|lung(5)	7		Colorectal(82;3.46e-05)|Ovarian(87;0.0822)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0531)		TGCGGCCCGAGGTGCACACCA	0.746													-	56658436	G	-	56658436	7	5	654	1	0	1	0	1	0	0	0	0	18018	991	35	0	158	0	ZNF444	19	56658436	Frame_Shift_Del	DEL	G	TCGA-P5-A737-01A-11D-A32B-08	41828381	56658436	2470547	28	52326											
MOV10L1	54456	broad.mit.edu	37	chr22	50591600	50591600	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgacctccttgctgggctggGagaagttgcctaagaaaggc	9	9	14	9	0	0	3	0	1	0	2	1	4	1	3	3	3	2	3	3	3	3	3			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chr22:50591600G>C	ENST00000262794.5	+	22	3102	c.3019G>C	c.(3019-3021)Gag>Cag	p.E1007Q	MOV10L1_ENST00000354853.2_Missense_Mutation_p.E50Q|MOV10L1_ENST00000540615.1_Missense_Mutation_p.E987Q|MOV10L1_ENST00000395843.1_Missense_Mutation_p.E50Q|MOV10L1_ENST00000395852.1_Missense_Mutation_p.E134Q|MOV10L1_ENST00000545383.1_Missense_Mutation_p.E1007Q|MOV10L1_ENST00000395858.3_Missense_Mutation_p.E1007Q	NM_018995.2	NP_061868.1	Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)	1007					germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GCTGGGCTGGGAGAAGTTGCC	0.587													C	50591600	G	C	50591600	3	2	654	1	0	0	0	0	1	0	0	0	9795	1175	41	4	3158	4	MOV10L1	22	50591600	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		50591600	712966	29	52327											
PLXNA3	55558	broad.mit.edu	37	chrX	153697253	153697253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgatgccatcacgggcgagGcacgatactccctgagcgag	9	7	13	12	4	1	2	1	2	0	0	2	5	2	2	2	2	3	1	2	2	1	2			TCGA-P5-A737-01A-11D-A32B-08	TCGA-P5-A737-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	936493de-1bf3-4ba3-8fd1-3365e35605c8	732b972d-1257-41a8-905a-7407e4a36995	g.chrX:153697253G>A	ENST00000369682.3	+	25	4550	c.4375G>A	c.(4375-4377)Gca>Aca	p.A1459T		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1459					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CACGGGCGAGGCACGATACTC	0.617													A	153697253	G	A	153697253	3	1	654	1	0	0	0	0	1	0	0	0	12198	1203	42	2	4469	2	PLXNA3	23	153697253	Missense_Mutation	SNP	G	TCGA-P5-A737-01A-11D-A32B-08		153697253	1573307	30	52328											
ARID1A	8289	broad.mit.edu	37	chr1	27088645	27088646	+	Frame_Shift_Del	DEL	TA	TA	-																															gatgctacccacaaataggtTatatgcagaggaacccccag																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:27088645_27088646delTA	ENST00000324856.7	+	7	2625_2626	c.2254_2255delTA	c.(2254-2256)tatfs	p.Y752fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.Y752fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.Y369fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	752					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		ACAAATAGGTTATATGCAGAGG	0.48			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27088646	TA	-	27088645	7	5	655	1	0	1	0	1	0	0	0	0	916	1754	61	0	2280	0	ARID1A	1	27088645	Frame_Shift_Del	DEL	TA	TCGA-P5-A77W-01A-11D-A32B-08		27088645	222161976	1	52329											
GNAI3	2773	broad.mit.edu	37	chr1	110121875	110121876	+	Frame_Shift_Ins	INS	-	-	G																															ggcagtgctgaagaaggagtINScatgactccagaactagcag																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:110121875_110121876insG	ENST00000369851.4	+	4	463_464	c.353_354insG	c.(352-357)gtcatgfs	p.M119fs		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	119					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		GAAGAAGGAGTCATGACTCCAG	0.446													G	110121876	-	G	110121875	7	5	655	1	0	1	1	0	0	0	0	0	6562	1667	58	0	367	0	GNAI3	1	110121875	Frame_Shift_Ins	INS	-	TCGA-P5-A77W-01A-11D-A32B-08	83033230	110121875	139128746	2	52330											
NBPF14	25832	broad.mit.edu	37	chr1	148009497	148009497	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gacttcaggctctttctcatCcaacagctccccgctgagcc	7	10	7	17	1	3	1	2	1	2	0	6	2	5	1	4	1	3	3	4	1	1	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:148009497C>T	ENST00000369219.1	-	16	1826	c.1810G>A	c.(1810-1812)Gat>Aat	p.D604N				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	604	NBPF 7.					cytoplasm				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					TCTTTCTCATCCAACAGCTCC	0.478													T	148009497	C	T	148009497	3	4	655	1	0	0	0	0	1	0	0	0	10270	855	30	2	983	2	NBPF14	1	148009497	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	37887622	148009497	101241124	3	52331											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													T	153907309	C	T	153907309	2	4	655	1	0	0	0	0	0	0	0	1	4473	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	5897812	153907309	95343312	4	52332											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	13	11	7	10	1	5	0	2	0	3	0	6	2	5	2	0	2	1	2	0	2	3	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458													A	162769603	G	A	162769603	3	1	655	1	0	0	0	0	1	0	0	0	7443	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	8862294	162769603	86481018	5	52333											
HMCN1	83872	broad.mit.edu	37	chr1	185988673	185988673	+	Splice_Site	SNP	T	T	A																															tcccccttccttaaatatagTtcctccaacaatcaagtcct																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988673T>A	ENST00000271588.4	+	35	5700	c.5471T>A	c.(5470-5472)gTt>gAt	p.V1824D	HMCN1_ENST00000367492.2_Splice_Site_p.V1824D	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TTAAATATAGTTCCTCCAACA	0.403													A	185988673	T	A	185988673	5	1	655	1	0	0	0	0	0	0	1	0	7275	1739	60	5	5609	5	HMCN1	1	185988673	Splice_Site	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	23219070	185988673	63261948	6	52334	168	3									
HMCN1	83872	broad.mit.edu	37	chr1	185988674	185988674	+	Splice_Site	SNP	T	T	G																															cccccttccttaaatatagtTcctccaacaatcaagtcctc																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988674T>G	ENST00000271588.4	+	35	5701	c.5472T>G	c.(5470-5472)gtT>gtG	p.V1824V	HMCN1_ENST00000367492.2_Splice_Site_p.V1824V	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1824					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TAAATATAGTTCCTCCAACAA	0.403													G	185988674	T	G	185988674	5	3	655	1	0	0	0	0	0	0	1	0	7275	1797	62	5	5610	5	HMCN1	1	185988674	Splice_Site	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	1	185988674	63261947	7	52335	168	3									
HMCN1	83872	broad.mit.edu	37	chr1	185988675	185988675	+	Missense_Mutation	SNP	C	C	T																															ccccttccttaaatatagttCctccaacaatcaagtcctca																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr1:185988675C>T	ENST00000271588.4	+	35	5702	c.5473C>T	c.(5473-5475)Cct>Tct	p.P1825S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P1825S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1825					response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AAATATAGTTCCTCCAACAAT	0.403													T	185988675	C	T	185988675	3	4	655	1	0	0	0	0	1	0	0	0	7275	855	30	2	5611	2	HMCN1	1	185988675	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	1	185988675	63261946	8	52336	168	3									
HEATR5B	54497	broad.mit.edu	37	chr2	37306396	37306396	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttttagctaataattttcGtgtaggtggtccaggtgaac	10	16	10	5	1	0	1	0	1	0	0	2	1	1	1	1	3	2	2	1	3	5	8			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:37306396G>A	ENST00000233099.5	-	3	300	c.205C>T	c.(205-207)Cga>Tga	p.R69*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R69*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	69							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				AATAATTTTCGTGTAGGTGGT	0.313													A	37306396	G	A	37306396	4	1	655	1	0	0	0	0	0	1	0	0	7087	1153	40	1	6146	1	HEATR5B	2	37306396	Nonsense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		37306396	205892977	9	52337											
LY75	4065	broad.mit.edu	37	chr2	160741690	160741690	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actccactgtattatttaatGgtttcctgcagacatagggc	10	14	8	9	0	0	1	0	0	0	1	2	1	2	1	2	2	1	3	2	2	4	6			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:160741690G>T	ENST00000263636.4	-	6	1055	c.1028C>A	c.(1027-1029)cCa>cAa	p.P343Q	LY75-CD302_ENST00000505052.1_Missense_Mutation_p.P343Q|LY75_ENST00000554112.1_Missense_Mutation_p.P343Q|LY75_ENST00000553424.1_Missense_Mutation_p.P343Q|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.P343Q	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		ATTATTTAATGGTTTCCTGCA	0.398													T	160741690	G	T	160741690	3	4	655	1	0	0	0	0	1	0	0	0	9170	1348	47	4	4260	4	LY75	2	160741690	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	123435294	160741690	82457683	10	52338											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	655	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	48371422	209113112	34086261	11	52339											
ARIH2	10425	broad.mit.edu	37	chr3	49004696	49004701	+	In_Frame_Del	DEL	GGCGTG	GGCGTG	-																															gctcagttctcgtcaaggacGgcgtgggcgtgggtgagtct																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:49004696_49004701delGGCGTG	ENST00000356401.4	+	6	865_870	c.526_531delGGCGTG	c.(526-531)ggcgtgdel	p.GV180del	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_In_Frame_Del_p.GV180del	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	180					developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		CGTCAAGGACGGCGTGGGCGTGGGTG	0.476													-	49004701	GGCGTG	-	49004696	7	5	655	1	0	1	0	1	0	0	0	0	927	1116	39	0	540	0	ARIH2	3	49004696	In_Frame_Del	DEL	GGCGTG	TCGA-P5-A77W-01A-11D-A32B-08		49004696	149017734	12	52340											
KIAA1407	57577	broad.mit.edu	37	chr3	113724396	113724396	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggttcctcttctctgggCtttgacagcaggtggctctg	3	15	12	11	0	3	1	0	1	3	0	5	1	4	1	1	4	1	4	1	4	0	4			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr3:113724396C>A	ENST00000295878.3	-	10	1973	c.1827G>T	c.(1825-1827)aaG>aaT	p.K609N	KIAA1407_ENST00000545063.1_Missense_Mutation_p.K440N	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	609										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						CTTCTCTGGGCTTTGACAGCA	0.502													A	113724396	C	A	113724396	3	1	655	1	0	0	0	0	1	0	0	0	8287	796	28	4	1015	4	KIAA1407	3	113724396	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	64719700	113724396	84298034	13	52341											
SLCO4C1	353189	broad.mit.edu	37	chr5	101627180	101627180	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctctttcaccaaagaatgaTacaaataaagacaacaaaca	21	7	3	10	0	2	3	1	1	1	2	2	3	2	3	2	0	3	0	2	0	8	3			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr5:101627180T>C	ENST00000310954.6	-	2	772	c.486A>G	c.(484-486)gtA>gtG	p.V162V		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	162					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CAAAGAATGATACAAATAAAG	0.398													C	101627180	T	C	101627180	2	2	655	1	0	0	0	0	0	0	0	1	14824	1393	49	3		3	SLCO4C1	5	101627180	Silent	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		101627180	79288080	14	52342											
SERPINB9	5272	broad.mit.edu	37	chr6	2900835	2900836	+	Frame_Shift_Del	DEL	AG	AG	-																															aagtaccacttgcattagaaAgagtttccatgatgcagggc																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:2900835_2900836delAG	ENST00000380698.4	-	2	99_100	c.10_11delCT	c.(10-12)cttfs	p.L4fs		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	4					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				TGCATTAGAAAGAGTTTCCATG	0.436													-	2900836	AG	-	2900835	7	5	655	1	0	1	0	1	0	0	0	0	14201	72	3	0	1143	0	SERPINB9	6	2900835	Frame_Shift_Del	DEL	AG	TCGA-P5-A77W-01A-11D-A32B-08		2900835	168214232	15	52343											
MEP1A	4224	broad.mit.edu	37	chr6	46793156	46793156	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cacagccaagatccctgagtTtaactccattatcggacagc	12	9	7	13	1	0	2	0	1	0	1	3	3	2	3	3	1	3	1	3	1	3	3			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr6:46793156T>C	ENST00000230588.4	+	8	713	c.704T>C	c.(703-705)tTt>tCt	p.F235S		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	235	Metalloprotease.				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			ATCCCTGAGTTTAACTCCATT	0.428													C	46793156	T	C	46793156	3	2	655	1	0	0	0	0	1	0	0	0	9550	1841	64	3	734	3	MEP1A	6	46793156	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	43892321	46793156	124321911	16	52344											
ADAM28	10863	broad.mit.edu	37	chr8	24199150	24199150	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgtcaaggtgggtcGgataatttgccctggaaagg	8	13	14	6	1	2	0	1	0	1	0	3	2	2	2	1	5	1	1	1	5	3	4	rs145453785	byFrequency	TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:24199150G>A	ENST00000265769.4	+	16	1820	c.1710G>A	c.(1708-1710)tcG>tcA	p.S570S	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000397649.3_Silent_p.S317S|RP11-624C23.1_ENST00000523578.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	570	Cys-rich.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	p.S570S(1)		central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAGGTGGGTCGGATAATTTGC	0.413													A	24199150	G	A	24199150	2	1	655	1	0	0	0	0	0	0	0	1	246	1103	39	1		1	ADAM28	8	24199150	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		24199150	122164872	17	52345											
PTK2B	2185	broad.mit.edu	37	chr8	27303351	27303351	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctctcctacgctcaccaGccctatggagtatccatctc	8	10	6	17	1	3	0	1	0	2	0	6	1	4	1	4	1	3	3	4	1	3	3			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:27303351G>T	ENST00000397501.1	+	29	3063	c.2255G>T	c.(2254-2256)aGc>aTc	p.S752I	PTK2B_ENST00000397497.4_Intron|PTK2B_ENST00000517339.1_Intron|PTK2B_ENST00000544172.1_Missense_Mutation_p.S752I|PTK2B_ENST00000346049.5_Missense_Mutation_p.S752I|PTK2B_ENST00000420218.2_Intron|PTK2B_ENST00000338238.4_Intron	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	752	Pro-rich.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		ACGCTCACCAGCCCTATGGAG	0.542													T	27303351	G	T	27303351	3	4	655	1	0	0	0	0	1	0	0	0	12849	971	34	4	2345	4	PTK2B	8	27303351	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	3104201	27303351	119060671	18	52346											
TGS1	96764	broad.mit.edu	37	chr8	56699384	56699384	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataatgatagctctggtacAagtgataaggatcatagtga	15	11	11	4	0	2	3	1	3	1	0	2	5	2	4	0	2	2	2	0	2	6	5			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:56699384A>T	ENST00000260129.5	+	4	1404	c.927A>T	c.(925-927)acA>acT	p.T309T		NM_024831.6	NP_079107.6	Q96RS0	TGS1_HUMAN	trimethylguanosine synthase 1	309					cellular lipid metabolic process|ncRNA metabolic process|regulation of transcription, DNA-dependent|RNA capping|spliceosomal snRNP assembly|transcription, DNA-dependent	Cajal body|cytosol	RNA trimethylguanosine synthase activity			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	29		all_lung(136;0.119)|all_epithelial(80;0.125)|Lung NSC(129;0.147)	Epithelial(17;0.00027)|all cancers(17;0.00251)			GCTCTGGTACAAGTGATAAGG	0.343													T	56699384	A	T	56699384	2	4	655	1	0	0	0	0	0	0	0	1	15937	117	5	5		5	TGS1	8	56699384	Silent	SNP	A	TCGA-P5-A77W-01A-11D-A32B-08	29396033	56699384	89664638	19	52347											
MATN2	4147	broad.mit.edu	37	chr8	98943528	98943528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgagggagaatgtgccacggGtcataatgatcgtgacagat	12	9	14	6	2	1	5	1	3	0	2	2	6	1	5	1	2	1	0	1	2	2	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:98943528G>T	ENST00000254898.5	+	3	721	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	MATN2_ENST00000524308.1_Missense_Mutation_p.V164F|MATN2_ENST00000521689.1_Missense_Mutation_p.V164F|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.V164F	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	164	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			TGTGCCACGGGTCATAATGAT	0.607													T	98943528	G	T	98943528	3	4	655	1	0	0	0	0	1	0	0	0	9409	1261	44	4	496	4	MATN2	8	98943528	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	42244144	98943528	47420494	20	52348											
POP1	10940	broad.mit.edu	37	chr8	99142398	99142398	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgccttggggagaggccaAcagtcaagagccacagagcc	12	4	13	12	0	1	3	1	0	0	3	1	4	1	3	4	3	4	0	4	3	2	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr8:99142398A>G	ENST00000401707.2	+	5	760	c.679A>G	c.(679-681)Aca>Gca	p.T227A	POP1_ENST00000349693.3_Missense_Mutation_p.T227A	NM_001145860.1|NM_001145861.1	NP_001139332.1|NP_001139333.1	Q99575	POP1_HUMAN	processing of precursor 1, ribonuclease P/MRP subunit (S. cerevisiae)	227					tRNA 5'-leader removal|tRNA catabolic process	nucleolar ribonuclease P complex|ribonuclease MRP complex	identical protein binding|ribonuclease MRP activity|ribonuclease P activity			autonomic_ganglia(1)|breast(3)|endometrium(4)|large_intestine(9)|lung(15)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Breast(36;1.78e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.145)			GGAGAGGCCAACAGTCAAGAG	0.498													G	99142398	A	G	99142398	3	3	655	1	0	0	0	0	1	0	0	0	12328	43	2	3	693	3	POP1	8	99142398	Missense_Mutation	SNP	A	TCGA-P5-A77W-01A-11D-A32B-08	198870	99142398	47221624	21	52349											
KANK1	23189	broad.mit.edu	37	chr9	712394	712397	+	Frame_Shift_Del	DEL	AAAC	AAAC	-																															gtgtgttgggacctccgtggAaacaaacagtgtaggcatct																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr9:712394_712397delAAAC	ENST00000382303.1	+	7	2280_2283	c.1628_1631delAAAC	c.(1627-1632)gaaacafs	p.ET543fs	KANK1_ENST00000382293.3_Frame_Shift_Del_p.ET385fs|KANK1_ENST00000382297.2_Frame_Shift_Del_p.ET543fs|KANK1_ENST00000489369.1_3'UTR	NM_001256876.1	NP_001243805.1	Q14678	KANK1_HUMAN	KN motif and ankyrin repeat domains 1	543					negative regulation of actin filament polymerization	cytoplasm				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|stomach(4)|upper_aerodigestive_tract(1)	43		Lung NSC(10;9.84e-12)|all_lung(10;1.02e-11)|Breast(48;0.128)		Epithelial(6;0.000153)|OV - Ovarian serous cystadenocarcinoma(1;0.000358)|Lung(218;0.0222)		ACCTCCGTGGAAACAAACAGTGTA	0.515													-	712397	AAAC	-	712394	7	5	655	1	0	1	0	1	0	0	0	0	8034	246	9	0	1634	0	KANK1	9	712394	Frame_Shift_Del	DEL	AAAC	TCGA-P5-A77W-01A-11D-A32B-08		712394	140501037	22	52350											
LGI1	9211	broad.mit.edu	37	chr10	95556791	95556791	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgttattgtggcccagcTgtttggtggctctcacatct	5	16	10	10	0	2	0	1	0	2	0	3	0	2	0	1	3	1	4	1	3	2	4			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr10:95556791T>C	ENST00000371418.4	+	8	1165	c.905T>C	c.(904-906)cTg>cCg	p.L302P	LGI1_ENST00000371413.3_Intron|LGI1_ENST00000542308.1_Missense_Mutation_p.L254P	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	302					axon guidance|cell proliferation|positive regulation of cell growth|positive regulation of synaptic transmission	cell junction|extracellular space|synapse	receptor binding			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				GTGGCCCAGCTGTTTGGTGGC	0.393													C	95556791	T	C	95556791	3	2	655	1	0	0	0	0	1	0	0	0	8811	1580	55	3	935	3	LGI1	10	95556791	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		95556791	39977956	23	52351											
DCDC1	341019	broad.mit.edu	37	chr11	30938455	30938455	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacattttcaaagagcccTttttccgttttctttggaag	8	17	6	10	1	2	1	1	0	1	1	4	2	4	2	3	1	1	1	3	1	2	7			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr11:30938455T>C	ENST00000597505.1	-	24	3413	c.3414A>G	c.(3412-3414)aaA>aaG	p.K1138K	DCDC1_ENST00000339794.5_Silent_p.K217K|DCDC1_ENST00000406071.2_5'UTR			P59894	DCDC1_HUMAN	doublecortin domain containing 1	0					intracellular signal transduction			p.K217K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAAAGAGCCCTTTTTCCGTTT	0.413													C	30938455	T	C	30938455	2	2	655	1	0	0	0	0	0	0	0	1	4318	1624	56	3		3	DCDC1	11	30938455	Silent	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08		30938455	104068061	24	52352											
SLC43A1	8501	broad.mit.edu	37	chr11	57259302	57259302	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggctccacaggaaagtgGgggagcagaggctcttgcgt	9	6	18	8	1	1	1	0	0	1	1	2	4	2	4	1	6	2	3	1	6	1	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr11:57259302G>A	ENST00000278426.3	-	9	1260	c.905C>T	c.(904-906)cCc>cTc	p.P302L	SLC43A1_ENST00000533515.1_5'UTR|SLC43A1_ENST00000528450.1_Missense_Mutation_p.P302L	NM_003627.5	NP_003618.1	O75387	LAT3_HUMAN	solute carrier family 43 (amino acid system L transporter), member 1	302					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	neutral amino acid transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	19						CAGGAAAGTGGGGGAGCAGAG	0.602											OREG0020651	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	57259302	G	A	57259302	3	1	655	1	0	0	0	0	1	0	0	0	14726	1232	43	2	802	2	SLC43A1	11	57259302	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	26320847	57259302	77747214	25	52353											
NCKAP5L	57701	broad.mit.edu	37	chr12	50189045	50189045	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccctgacttgggtcagtgggGccaggtactaggggtgtgga	6	9	18	8	0	1	1	1	1	0	0	1	2	1	2	2	7	1	1	2	7	2	3			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:50189045G>A	ENST00000335999.6	-	8	2799	c.2598C>T	c.(2596-2598)ggC>ggT	p.G866G		NM_001037806.3	NP_001032895.2	Q9HCH0	NCK5L_HUMAN	NCK-associated protein 5-like	862	Pro-rich.									central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(8)|prostate(2)	18						GGTCAGTGGGGCCAGGTACTA	0.637													A	50189045	G	A	50189045	2	1	655	1	0	0	0	0	0	0	0	1	10300	1190	42	2		2	NCKAP5L	12	50189045	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		50189045	83662850	26	52354											
CBX5	23468	broad.mit.edu	37	chr12	54651393	54651393	+	Frame_Shift_Del	DEL	T	T	-																															acatactcctcctcatcctcTgaagaagaactgtcagctgt																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:54651393delT	ENST00000209875.4	-	2	178	c.42delA	c.(40-42)tcafs	p.S14fs	CBX5_ENST00000550411.1_Frame_Shift_Del_p.S14fs|CBX5_ENST00000439541.2_Frame_Shift_Del_p.S14fs	NM_012117.2	NP_036249.1	P45973	CBX5_HUMAN	chromobox homolog 5	14	Poly-Ser.				blood coagulation|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent	cytoplasm|histone deacetylase complex|histone methyltransferase complex|nuclear centromeric heterochromatin|nuclear envelope|nucleolus|transcriptional repressor complex	methylated histone residue binding|protein binding, bridging|repressing transcription factor binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	8						CCTCATCCTCTGAAGAAGAAC	0.502													-	54651393	T	-	54651393	7	5	655	1	0	1	0	1	0	0	0	0	2747	1567	55	0	549	0	CBX5	12	54651393	Frame_Shift_Del	DEL	T	TCGA-P5-A77W-01A-11D-A32B-08	4462348	54651393	79200502	27	52355											
IRAK3	11213	broad.mit.edu	37	chr12	66641820	66641820	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatagttccatcccaggacTtaaggccctataaggtaaat	14	11	7	9	0	0	0	0	0	0	0	2	1	2	1	3	3	0	2	3	3	7	7			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr12:66641820T>G	ENST00000261233.4	+	12	2081	c.1660T>G	c.(1660-1662)Tta>Gta	p.L554V	IRAK3_ENST00000457197.2_Missense_Mutation_p.L493V	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN	interleukin-1 receptor-associated kinase 3	554					interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ATCCCAGGACTTAAGGCCCTA	0.458													G	66641820	T	G	66641820	3	3	655	1	0	0	0	0	1	0	0	0	7882	1606	56	5	1706	5	IRAK3	12	66641820	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	11990427	66641820	67210075	28	52356											
NAA16	79612	broad.mit.edu	37	chr13	41943360	41943362	+	In_Frame_Del	DEL	GAA	GAA	-																															atcaaaagaaaaaaagagatGaagaagaagaagaagccagt																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:41943360_41943362delGAA	ENST00000379406.3	+	15	2212_2214	c.1888_1890delGAA	c.(1888-1890)gaadel	p.E634del	NAA16_ENST00000497143.1_3'UTR	NM_024561.4	NP_078837.3	Q6N069	NAA16_HUMAN	N(alpha)-acetyltransferase 16, NatA auxiliary subunit	634					N-terminal protein amino acid acetylation|positive regulation of transcription, DNA-dependent	cytoplasm|transcription factor complex	binding	p.E630D(1)		breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|urinary_tract(2)	31						aaaaagagatgaagaagaagaag	0.345													-	41943362	GAA	-	41943360	7	5	655	1	0	1	0	1	0	0	0	0	10195	1291	45	0	1979	0	NAA16	13	41943360	In_Frame_Del	DEL	GAA	TCGA-P5-A77W-01A-11D-A32B-08		41943360	73226518	29	52357											
ZC3H13	23091	broad.mit.edu	37	chr13	46543102	46543102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acggttactccgattgctccCgaggctgctgctcctctttt	4	14	9	14	3	1	0	0	0	1	0	4	2	4	0	3	2	4	5	3	2	1	4			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr13:46543102C>T	ENST00000242848.4	-	14	3925	c.3577G>A	c.(3577-3579)Ggg>Agg	p.G1193R	ZC3H13_ENST00000282007.3_Missense_Mutation_p.G1193R|ZC3H13_ENST00000378921.2_Missense_Mutation_p.G149R			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	1193	Ser-rich.						nucleic acid binding|zinc ion binding	p.G1193W(1)		cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		CGATTGCTCCCGAGGCTGCTG	0.507													T	46543102	C	T	46543102	3	4	655	1	0	0	0	0	1	0	0	0	17666	652	23	1	1133	1	ZC3H13	13	46543102	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	4599742	46543102	68626776	30	52358											
OR10G2	26534	broad.mit.edu	37	chr14	22102600	22102600	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactgggtagtgcaggggCtgacatattgctaggtacct	9	10	14	8	0	0	1	0	1	0	0	0	1	0	1	1	4	4	6	1	4	4	5			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:22102600C>A	ENST00000542433.1	-	1	496	c.399G>T	c.(397-399)caG>caT	p.Q133H		NM_001005466.1	NP_001005466.1	Q8NGC3	O10G2_HUMAN	olfactory receptor, family 10, subfamily G, member 2	133					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|prostate(1)|skin(2)|stomach(2)	22	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0142)		AGTGCAGGGGCTGACATATTG	0.552													A	22102600	C	A	22102600	3	1	655	1	0	0	0	0	1	0	0	0	10975	796	28	4	536	4	OR10G2	14	22102600	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		22102600	85246940	31	52359											
C14orf105	55195	broad.mit.edu	37	chr14	57947418	57947418	+	Missense_Mutation	SNP	T	T	A																															ggctttatggtcccttggacTttgcttattaattcttgcct																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947418T>A	ENST00000216445.3	-	5	686	c.550A>T	c.(550-552)Agt>Tgt	p.S184C	C14orf105_ENST00000422976.2_Missense_Mutation_p.S183C|C14orf105_ENST00000534126.1_Missense_Mutation_p.S183C	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	184										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						TCCCTTGGACTTTGCTTATTA	0.403													A	57947418	T	A	57947418	3	1	655	1	0	0	0	0	1	0	0	0	1750	1609	56	5	348	5	C14orf105	14	57947418	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	35844818	57947418	49402122	32	52360	169	2									
C14orf105	55195	broad.mit.edu	37	chr14	57947420	57947420	+	Missense_Mutation	SNP	T	T	G																															ctttatggtcccttggacttTgcttattaattcttgcctct																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr14:57947420T>G	ENST00000216445.3	-	5	684	c.548A>C	c.(547-549)cAa>cCa	p.Q183P	C14orf105_ENST00000422976.2_Missense_Mutation_p.Q182P|C14orf105_ENST00000534126.1_Missense_Mutation_p.Q182P	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	183										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTTGGACTTTGCTTATTAAT	0.393													G	57947420	T	G	57947420	3	3	655	1	0	0	0	0	1	0	0	0	1750	1812	63	5	350	5	C14orf105	14	57947420	Missense_Mutation	SNP	T	TCGA-P5-A77W-01A-11D-A32B-08	2	57947420	49402120	33	52361	169	2									
MAP3K14	9020	broad.mit.edu	37	chr17	43344891	43344893	+	RNA	DEL	CTC	CTC	-																															aagggttcccacatcccagaCtcctccttgctcaaagtcaa																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr17:43344891_43344893delCTC	ENST00000344686.2	-	0	2311_2313				MAP3K14-AS1_ENST00000592422.1_RNA|MAP3K14-AS1_ENST00000588698.1_RNA|MAP3K14-AS1_ENST00000590100.1_RNA|MAP3K14-AS1_ENST00000586450.1_RNA|MAP3K14-AS1_ENST00000585351.1_RNA|MAP3K14-AS1_ENST00000585780.1_RNA|MAP3K14-AS1_ENST00000588504.1_RNA			Q99558	M3K14_HUMAN	mitogen-activated protein kinase kinase kinase 14						cellular response to mechanical stimulus|I-kappaB kinase/NF-kappaB cascade|immune response|positive regulation of I-kappaB kinase/NF-kappaB cascade|T cell costimulation	cytosol	ATP binding|MAP kinase kinase kinase activity|NF-kappaB-inducing kinase activity|protein binding			breast(3)|central_nervous_system(4)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27						ACATCCCAGACTCCTCCTTGCTC	0.611													-	43344893	CTC	-	43344891	6	5	655	0	1	1	0	1	0	0	0	0	9323	564	20	0		0	MAP3K14	17	43344891	RNA	DEL	CTC	TCGA-P5-A77W-01A-11D-A32B-08		43344891	37850319	34	52362											
KRI1	65095	broad.mit.edu	37	chr19	10672385	10672385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccacataactttgcgacGatgtctcctgcagagagggc	9	9	10	13	2	1	1	0	0	1	1	3	4	2	1	3	1	3	1	3	1	1	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:10672385G>A	ENST00000312962.6	-	6	483	c.464C>T	c.(463-465)tCg>tTg	p.S155L	KRI1_ENST00000361821.5_Missense_Mutation_p.S151L|KRI1_ENST00000537964.1_5'UTR	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	KRI1 homolog (S. cerevisiae)	155	Glu-rich.									NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			ACTTTGCGACGATGTCTCCTG	0.607													A	10672385	G	A	10672385	3	1	655	1	0	0	0	0	1	0	0	0	8502	1059	37	1	1721	1	KRI1	19	10672385	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08		10672385	48456598	35	52363											
PLVAP	83483	broad.mit.edu	37	chr19	17488042	17488042	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtaataccagcagcccCgagagctgccccccgcccga	9	3	11	18	3	0	1	0	0	0	1	0	3	0	1	7	1	5	4	7	1	2	2			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:17488042C>T	ENST00000252590.4	-	1	117	c.56G>A	c.(55-57)cGg>cAg	p.R19Q		NM_031310.1	NP_112600.1	Q9BX97	PLVAP_HUMAN	plasmalemma vesicle associated protein	19						caveola|integral to membrane|perinuclear region of cytoplasm				cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CCAGCAGCCCCGAGAGCTGCC	0.622													T	17488042	C	T	17488042	3	4	655	1	0	0	0	0	1	0	0	0	12193	652	23	1	1296	1	PLVAP	19	17488042	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	6815657	17488042	41640941	36	52364											
CIC	23152	broad.mit.edu	37	chr19	42795197	42795198	+	Frame_Shift_Del	DEL	TG	TG	-																															gtggggaaggcgcctgccacTgtcactaacctactggtggg																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr19:42795197_42795198delTG	ENST00000572681.2	+	11	5072_5073	c.5004_5005delTG	c.(5002-5007)actgtcfs	p.V1669fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V760fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V760fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	760					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGCCTGCCACTGTCACTAACCT	0.668			"Mis, F, S"		oligodendroglioma								-	42795198	TG	-	42795197	7	5	655	1	0	1	0	1	0	0	0	0	3454	1567	55	0	2315	0	CIC	19	42795197	Frame_Shift_Del	DEL	TG	TCGA-P5-A77W-01A-11D-A32B-08	25307155	42795197	16333786	37	52365											
PKDREJ	10343	broad.mit.edu	37	chr22	46652877	46652877	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagttactgtagttccattCatgctgaccaaacaccaggt	12	11	7	11	0	1	1	1	1	0	0	2	1	2	1	3	1	3	4	3	1	4	4			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:46652877C>A	ENST00000253255.5	-	1	6342	c.6343G>T	c.(6343-6345)Gaa>Taa	p.E2115*		NM_006071.1	NP_006062.1	Q9NTG1	PKDRE_HUMAN	polycystin (PKD) family receptor for egg jelly	2115					acrosome reaction|neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity			NS(2)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(4)|kidney(5)|large_intestine(21)|lung(16)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	73		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00459)		TAGTTCCATTCATGCTGACCA	0.443													A	46652877	C	A	46652877	4	1	655	1	0	0	0	0	0	1	0	0	12047	835	29	4	422	4	PKDREJ	22	46652877	Nonsense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		46652877	4651689	38	52366											
TTLL8	164714	broad.mit.edu	37	chr22	50484310	50484310	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactcctgctgctcactctcGgtgcagaggctgtagcagcg	7	9	12	13	2	2	1	1	0	1	1	4	1	3	1	1	2	6	6	1	2	2	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chr22:50484310G>A	ENST00000266182.6	-	5	482	c.483C>T	c.(481-483)acC>acT	p.T161T	TTLL8_ENST00000440475.1_Silent_p.T161T					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		GCTCACTCTCGGTGCAGAGGC	0.617													A	50484310	G	A	50484310	2	1	655	1	0	0	0	0	0	0	0	1	16835	1103	39	1		1	TTLL8	22	50484310	Silent	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	3831433	50484310	820256	39	52367											
PHKA2	5256	broad.mit.edu	37	chrX	18936876	18936876	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatagcactgaagacatggCggtcttctgtgttcttacaa	10	12	11	8	1	3	2	0	1	3	1	3	3	3	3	0	3	2	2	0	3	4	4			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:18936876C>T	ENST00000379942.4	-	19	2725	c.2060G>A	c.(2059-2061)cGc>cAc	p.R687H		NM_000292.2	NP_000283.1	P46019	KPB2_HUMAN	phosphorylase kinase, alpha 2 (liver)	687					glucose metabolic process|glycogen catabolic process	cytosol|phosphorylase kinase complex|plasma membrane	calmodulin binding|glucan 1,4-alpha-glucosidase activity|phosphorylase kinase activity			NS(1)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(23)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	61	Hepatocellular(33;0.183)					GAAGACATGGCGGTCTTCTGT	0.448													T	18936876	C	T	18936876	3	4	655	1	0	0	0	0	1	0	0	0	11921	768	27	1	1707	1	PHKA2	23	18936876	Missense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08		18936876	136333684	40	52368											
CXorf38	159013	broad.mit.edu	37	chrX	40495933	40495933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catctcgctgatcttcctcgGggatgtgaacagcccagtca	8	10	10	13	2	3	2	1	2	2	0	6	3	4	3	2	2	2	1	2	2	1	1			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:40495933G>A	ENST00000378426.1	-	4	893	c.296C>T	c.(295-297)cCc>cTc	p.P99L	CXorf38_ENST00000440784.2_Missense_Mutation_p.P133L|CXorf38_ENST00000327877.5_Missense_Mutation_p.P218L|CXorf38_ENST00000378421.1_Missense_Mutation_p.P99L			Q8TB03	CX038_HUMAN	chromosome X open reading frame 38	218										NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(1)	12						ATCTTCCTCGGGGATGTGAAC	0.423													A	40495933	G	A	40495933	3	1	655	1	0	0	0	0	1	0	0	0	4140	1232	43	2	314	2	CXorf38	23	40495933	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	21559057	40495933	114774627	41	52369											
ARMCX2	9823	broad.mit.edu	37	chrX	100910841	100910844	+	Frame_Shift_Del	DEL	ATAG	ATAG	-																															acttctgctctgagattgtcAtagataatctcaaatagagt																										TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:100910841_100910844delATAG	ENST00000328766.5	-	5	2184_2187	c.1731_1734delCTAT	c.(1729-1734)atctatfs	p.IY577fs	ARMCX2_ENST00000330154.2_Frame_Shift_Del_p.IY577fs|ARMCX2_ENST00000356824.4_Frame_Shift_Del_p.IY577fs	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	577						integral to membrane	binding			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						TGAGATTGTCATAGATAATCTCAA	0.348													-	100910844	ATAG	-	100910841	7	5	655	1	0	1	0	1	0	0	0	0	965	224	8	0	168	0	ARMCX2	23	100910841	Frame_Shift_Del	DEL	ATAG	TCGA-P5-A77W-01A-11D-A32B-08	60414908	100910841	54359719	42	52370											
DOCK11	139818	broad.mit.edu	37	chrX	117744241	117744241	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatttcatttcagcttcccCgaggccagagatttcccgag	8	12	8	13	2	2	1	2	0	0	1	4	4	4	1	4	1	1	1	4	1	1	5			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:117744241C>T	ENST00000276204.6	+	28	3030	c.2956C>T	c.(2956-2958)Cga>Tga	p.R986*	DOCK11_ENST00000276202.7_Nonsense_Mutation_p.R986*			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	986					blood coagulation	cytosol	GTP binding			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAGCTTCCCCGAGGCCAGAG	0.383													T	117744241	C	T	117744241	4	4	655	1	0	0	0	0	0	1	0	0	4725	644	23	1	3066	1	DOCK11	23	117744241	Nonsense_Mutation	SNP	C	TCGA-P5-A77W-01A-11D-A32B-08	16833400	117744241	37526319	43	52371											
BGN	633	broad.mit.edu	37	chrX	152773797	152773797	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaagcgggcctactacaacgGcatcagcctcttcaacaacc	12	6	8	15	2	3	0	2	0	1	0	3	1	3	0	3	2	7	1	3	2	6	3			TCGA-P5-A77W-01A-11D-A32B-08	TCGA-P5-A77W-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f0d366d4-b18f-44b3-9e4e-fc49e38c5601	5e92215f-5cb4-459d-91fa-0b0026d14be5	g.chrX:152773797G>A	ENST00000331595.4	+	8	1187	c.1001G>A	c.(1000-1002)gGc>gAc	p.G334D	BGN_ENST00000480756.1_3'UTR	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	334						proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TACTACAACGGCATCAGCCTC	0.577													A	152773797	G	A	152773797	3	1	655	1	0	0	0	0	1	0	0	0	1424	1203	42	2	1027	2	BGN	23	152773797	Missense_Mutation	SNP	G	TCGA-P5-A77W-01A-11D-A32B-08	35029556	152773797	2496763	44	52372											
FUBP1	8880	broad.mit.edu	37	chr1	78433848	78433851	+	Splice_Site	DEL	CAGT	CAGT	-																															cagtttaaaaggaatacttaCagtcattttgaggagcaact																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:78433848_78433851delCAGT	ENST00000370767.1	-	3	335_338	c.248_251delACTG	c.(247-252)gactgt>gt	p.DC83fs	FUBP1_ENST00000370768.2_Splice_Site_p.DC83fs|FUBP1_ENST00000436586.2_Splice_Site_p.DC104fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	83					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.?(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GGAATACTTACAGTCATTTTGAGG	0.319			"F, N"		oligodendroglioma								-	78433851	CAGT	-	78433848	8	5	656	1	0	1	0	1	0	0	1	0	6144	492	17	0	1755	0	FUBP1	1	78433848	Splice_Site	DEL	CAGT	TCGA-P5-A77X-01A-11D-A32B-08		78433848	170816773	1	52373											
ODF2L	57489	broad.mit.edu	37	chr1	86826179	86826179	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaattctgagagttcatttTcaacagatacaacttcatcc	13	13	5	10	0	4	2	3	1	1	2	5	3	5	2	1	0	3	2	1	0	4	6			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:86826179T>C	ENST00000359242.3	-	12	1465	c.1184A>G	c.(1183-1185)gAa>gGa	p.E395G	ODF2L_ENST00000317336.7_Missense_Mutation_p.E395G|ODF2L_ENST00000370566.3_Missense_Mutation_p.E366G|ODF2L_ENST00000394731.1_Missense_Mutation_p.E235G|ODF2L_ENST00000524695.1_5'UTR|ODF2L_ENST00000294678.2_Missense_Mutation_p.E366G|ODF2L_ENST00000370567.1_Missense_Mutation_p.E366G	NM_001007022.2	NP_001007023.2	Q9ULJ1	ODF2L_HUMAN	outer dense fiber of sperm tails 2-like	395						centrosome				endometrium(2)|kidney(2)|large_intestine(10)|lung(6)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	24				all cancers(265;0.0313)|Epithelial(280;0.0611)		GAGTTCATTTTCAACAGATAC	0.303													C	86826179	T	C	86826179	3	2	656	1	0	0	0	0	1	0	0	0	10904	1783	62	3	930	3	ODF2L	1	86826179	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	8392331	86826179	162424442	2	52374											
CFHR5	81494	broad.mit.edu	37	chr1	196973838	196973838	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catctattaacaatggagatAccacctcattcccattatca	14	12	3	12	0	3	1	2	0	1	1	4	2	4	1	3	1	2	0	3	1	5	5			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:196973838A>G	ENST00000367414.5	+	9	1506	c.1450A>G	c.(1450-1452)Acc>Gcc	p.T484A	CFHR5_ENST00000256785.4_Missense_Mutation_p.T460A	NM_030787.3	NP_110414.1	Q9BXR6	FHR5_HUMAN	complement factor H-related 5	460	Sushi 8.				complement activation, alternative pathway	extracellular region				NS(2)|breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(23)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	49						CAATGGAGATACCACCTCATT	0.408													G	196973838	A	G	196973838	3	3	656	1	0	0	0	0	1	0	0	0	3318	391	14	3	1412	3	CFHR5	1	196973838	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	110147659	196973838	52276783	3	52375											
OR2M3	127062	broad.mit.edu	37	chr1	248366669	248366669	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggctggttgtgccacacaAattttcttctatacatcact	10	15	6	10	0	3	0	1	0	2	0	3	0	3	0	1	2	2	2	1	2	3	6			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr1:248366669A>G	ENST00000456743.1	+	1	338	c.300A>G	c.(298-300)caA>caG	p.Q100Q		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTGCCACACAAATTTTCTTCT	0.488													G	248366669	A	G	248366669	2	3	656	1	0	0	0	0	0	0	0	1	11087	11	1	3		3	OR2M3	1	248366669	Silent	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	51392831	248366669	883952	4	52376											
SLC30A6	55676	broad.mit.edu	37	chr2	32445757	32445757	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtagatatggaactaataAtagaattggacaaccaagac	20	8	8	5	0	0	3	0	0	0	3	0	5	0	5	1	2	2	1	1	2	10	6			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:32445757A>G	ENST00000282587.5	+	14	1398	c.1361A>G	c.(1360-1362)aAt>aGt	p.N454S	SLC30A6_ENST00000406369.1_Missense_Mutation_p.N380S|SLC30A6_ENST00000379343.2_Missense_Mutation_p.N494S|SLC30A6_ENST00000538303.1_Missense_Mutation_p.N425S|SLC30A6_ENST00000357055.3_Missense_Mutation_p.N257S|SLC30A6_ENST00000435660.1_Missense_Mutation_p.N431S	NM_017964.3	NP_060434.2	Q6NXT4	ZNT6_HUMAN	solute carrier family 30 (zinc transporter), member 6	454				N -> S (in Ref. 4; AAH66903).		Golgi membrane|integral to membrane	zinc ion transmembrane transporter activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(4)|lung(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGAACTAATAATAGAATTGGA	0.353													G	32445757	A	G	32445757	3	3	656	1	0	0	0	0	1	0	0	0	14653	101	4	3	1415	3	SLC30A6	2	32445757	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		32445757	210753616	5	52377											
LRP2	4036	broad.mit.edu	37	chr2	170027173	170027173	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcgctctctgtgcactcccgGggagctggaaaggaaaggca	9	7	14	11	2	1	0	0	0	1	0	4	3	2	3	1	5	2	4	1	5	2	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:170027173G>A	ENST00000263816.3	-	59	11553	c.11268C>T	c.(11266-11268)ccC>ccT	p.P3756P		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3756	LDL-receptor class A 31.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TGCACTCCCGGGGAGCTGGAA	0.552													A	170027173	G	A	170027173	2	1	656	1	0	0	0	0	0	0	0	1	9026	1219	43	2		2	LRP2	2	170027173	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	137581416	170027173	73172200	6	52378											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	656	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	39085939	209113112	34086261	7	52379											
EXOG	9941	broad.mit.edu	37	chr3	38548446	38548449	+	Frame_Shift_Del	DEL	TAGT	TAGT	-																															tagaggcgatggaaagaaaaTagttagttaccaggtaagga																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:38548446_38548449delTAGT	ENST00000287675.5	+	5	728_731	c.632_635delTAGT	c.(631-636)atagttfs	p.IV211fs	EXOG_ENST00000422077.2_Frame_Shift_Del_p.IV161fs|EXOG_ENST00000358249.2_Frame_Shift_Del_p.IV71fs	NM_005107.3	NP_005098.2	Q9Y2C4	EXOG_HUMAN	endo/exonuclease (5'-3'), endonuclease G-like	211						mitochondrial inner membrane	endonuclease activity|metal ion binding|nucleic acid binding			central_nervous_system(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	17						GGAAAGAAAATAGTTAGTTACCAG	0.353													-	38548449	TAGT	-	38548446	7	5	656	1	0	1	0	1	0	0	0	0	5353	1406	49	0	650	0	EXOG	3	38548446	Frame_Shift_Del	DEL	TAGT	TCGA-P5-A77X-01A-11D-A32B-08		38548446	159473984	8	52380											
UPK1B	7348	broad.mit.edu	37	chr3	118909856	118909856	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacctcttcctgaagcagAtgctagagaggtaccaaaac	14	7	8	12	0	1	3	0	1	1	2	2	4	2	3	4	1	5	3	4	1	6	3	rs147312682		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:118909856A>G	ENST00000264234.3	+	5	522	c.373A>G	c.(373-375)Atg>Gtg	p.M125V	UPK1B_ENST00000497685.1_Missense_Mutation_p.M45V|UPK1B_ENST00000460625.1_Missense_Mutation_p.M117V	NM_006952.3	NP_008883.2	O75841	UPK1B_HUMAN	uroplakin 1B	125					epithelial cell differentiation	integral to membrane	structural molecule activity			breast(1)|endometrium(3)|large_intestine(2)|lung(6)|pancreas(1)|skin(1)	14				GBM - Glioblastoma multiforme(114;0.222)		CCTGAAGCAGATGCTAGAGAG	0.453													G	118909856	A	G	118909856	3	3	656	1	0	0	0	0	1	0	0	0	17110	333	12	3	387	3	UPK1B	3	118909856	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	80361410	118909856	79112574	9	52381											
KCNAB1	7881	broad.mit.edu	37	chr3	155860969	155860969	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgggtttttgaaacaTgcatctgtataaacctgcct	9	16	7	9	0	1	1	0	1	1	0	2	1	2	1	3	1	4	3	3	1	4	6			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr3:155860969T>C	ENST00000471742.1	+	1	219	c.2T>C	c.(1-3)aTg>aCg	p.M1T	KCNAB1_ENST00000389636.5_Intron|KCNAB1_ENST00000490337.1_Intron	NM_003471.3	NP_003462.2	Q14722	KCAB1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 1	0						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	28			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TTTTGAAACATGCATCTGTAT	0.458													C	155860969	T	C	155860969	1	2	656	1	0	0	0	0	0	0	0	0	8067	1464	51	3		3	KCNAB1	3	155860969	Translation_Start_Site	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	36951113	155860969	42161461	10	52382											
CTBP1	1487	broad.mit.edu	37	chr4	1206203	1206203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccacgcccaccacgcccGgagggtacctgctgggagag	7	3	16	15	3	0	1	0	0	0	1	0	3	0	2	5	4	2	2	5	4	1	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:1206203G>A	ENST00000382952.3	-	10	1499	c.1115C>T	c.(1114-1116)cCg>cTg	p.P372L	CTBP1_ENST00000290921.6_Missense_Mutation_p.P383L	NM_001012614.1	NP_001012632.1	Q13363	CTBP1_HUMAN	C-terminal binding protein 1	383					interspecies interaction between organisms|negative regulation of cell proliferation|negative regulation of histone H4 acetylation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of histone deacetylation|protein phosphorylation|regulation of cell cycle|regulation of transcription by chromatin organization|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|viral genome replication|white fat cell differentiation	cytoplasm|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein C-terminus binding|protein domain specific binding|transcription factor binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|urinary_tract(1)	8			OV - Ovarian serous cystadenocarcinoma(23;0.00818)	Colorectal(103;0.2)		CACCACGCCCGGAGGGTACCT	0.721													A	1206203	G	A	1206203	3	1	656	1	0	0	0	0	1	0	0	0	4030	1116	39	1	178	1	CTBP1	4	1206203	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		1206203	189948073	11	52383											
SORCS2	57537	broad.mit.edu	37	chr4	7533275	7533275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcatcagatttcgggacGtcctacaccaagctcaccct	10	9	8	14	2	3	1	3	0	0	1	5	2	4	2	3	2	2	1	3	2	2	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:7533275G>A	ENST00000507866.2	+	3	676	c.567G>A	c.(565-567)acG>acA	p.T189T	SORCS2_ENST00000511199.1_3'UTR|SORCS2_ENST00000329016.9_Silent_p.T17T	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	189						integral to membrane	neuropeptide receptor activity	p.T39T(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						ATTTCGGGACGTCCTACACCA	0.602													A	7533275	G	A	7533275	2	1	656	1	0	0	0	0	0	0	0	1	15025	1132	40	1		1	SORCS2	4	7533275	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	6327072	7533275	183621001	12	52384											
CPZ	8532	broad.mit.edu	37	chr4	8616093	8616093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgccacaggcatgtcCgatttcaactacctgcacac	9	10	7	15	1	2	0	1	0	1	0	3	1	3	0	3	1	4	2	3	1	2	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:8616093C>T	ENST00000429646.2	+	7	2988	c.195C>T	c.(193-195)tcC>tcT	p.S65S	CPZ_ENST00000360986.4_Silent_p.S457S|CPZ_ENST00000382480.2_Silent_p.S320S|CPZ_ENST00000315782.6_Silent_p.S446S			Q66K79	CBPZ_HUMAN	carboxypeptidase Z	457	FZ.				proteolysis|Wnt receptor signaling pathway	proteinaceous extracellular matrix	metallocarboxypeptidase activity|zinc ion binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(23)|ovary(3)|pancreas(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CAGGCATGTCCGATTTCAACT	0.612													T	8616093	C	T	8616093	2	4	656	1	0	0	0	0	0	0	0	1	3870	639	23	1		1	CPZ	4	8616093	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	1082818	8616093	182538183	13	52385											
ZNF518B	85460	broad.mit.edu	37	chr4	10445618	10445618	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagaggaattaagaacccTcaacacagcccctttgggga	13	7	9	12	0	2	2	2	0	0	2	2	4	2	4	3	3	3	0	3	3	4	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:10445618T>C	ENST00000326756.3	-	3	2773	c.2335A>G	c.(2335-2337)Agg>Ggg	p.R779G		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	779					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TTAAGAACCCTCAACACAGCC	0.473													C	10445618	T	C	10445618	3	2	656	1	0	0	0	0	1	0	0	0	18064	1550	54	3	893	3	ZNF518B	4	10445618	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	1829525	10445618	180708658	14	52386											
KDR	3791	broad.mit.edu	37	chr4	55984889	55984889	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcttacagaagaggccatcGctgcactcagtcacctccac	10	8	8	15	1	3	2	2	0	1	2	5	2	4	2	3	1	2	2	3	1	2	1	rs141577956	by1000genomes	TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:55984889G>A	ENST00000263923.4	-	3	535	c.240C>T	c.(238-240)agC>agT	p.S80S		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	80	Ig-like C2-type 1.				angiogenesis|cell differentiation|interspecies interaction between organisms|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of focal adhesion assembly|positive regulation of positive chemotaxis|regulation of cell shape	integral to plasma membrane	ATP binding|growth factor binding|Hsp90 protein binding|integrin binding|receptor signaling protein tyrosine kinase activity|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Sorafenib(DB00398)|Sunitinib(DB01268)	AGAGGCCATCGCTGCACTCAG	0.502			Mis		"NSCLC, angiosarcoma"					TSP Lung(20;0.16)			A	55984889	G	A	55984889	2	1	656	1	0	0	0	0	0	0	0	1	8197	1078	38	1		1	KDR	4	55984889	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	45539271	55984889	135169387	15	52387											
NEK1	4750	broad.mit.edu	37	chr4	170476964	170476964	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggtgatgacctgcagccCcataaggaaatcctggacga	13	7	11	10	1	0	2	0	2	0	0	1	5	1	4	4	3	2	1	4	3	3	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr4:170476964C>T	ENST00000439128.2	-	17	2109	c.1469G>A	c.(1468-1470)gGg>gAg	p.G490E	NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.G490E|NEK1_ENST00000510533.1_Intron	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	490					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		ACCTGCAGCCCCATAAGGAAA	0.413													T	170476964	C	T	170476964	3	4	656	1	0	0	0	0	1	0	0	0	10397	623	22	2	2379	2	NEK1	4	170476964	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	114492075	170476964	20677312	16	52388											
C5orf42	65250	broad.mit.edu	37	chr5	37154027	37154030	+	Frame_Shift_Del	DEL	ATAG	ATAG	-																															accttgcagccgtttccacaAtagataatcttctgcagagt																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:37154027_37154030delATAG	ENST00000274258.7	-	41	8304_8307	c.4717_4720delCTAT	c.(4717-4722)ctattgfs	p.LL1573fs	C5orf42_ENST00000508244.1_Frame_Shift_Del_p.LL2675fs|C5orf42_ENST00000425232.2_Frame_Shift_Del_p.LL2675fs			E9PH94	E9PH94_HUMAN	chromosome 5 open reading frame 42	2675										breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			CGTTTCCACAATAGATAATCTTCT	0.431													-	37154030	ATAG	-	37154027	7	5	656	1	0	1	0	1	0	0	0	0	2323	98	4	0	1615	0	C5orf42	5	37154027	Frame_Shift_Del	DEL	ATAG	TCGA-P5-A77X-01A-11D-A32B-08		37154027	143761233	17	52389											
ATP10B	23120	broad.mit.edu	37	chr5	160061405	160061405	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgcccatgatggtgcaacgtCggaacaccatcttgttctct	8	12	9	12	2	2	1	0	1	2	0	4	2	2	2	2	2	4	2	2	2	2	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr5:160061405C>T	ENST00000327245.5	-	12	2183	c.1337G>A	c.(1336-1338)cGa>cAa	p.R446Q	CTC-348L5.1_ENST00000523598.1_RNA	NM_025153.2	NP_079429.2	O94823	AT10B_HUMAN	ATPase, class V, type 10B	446					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(2)|lung(37)|ovary(4)|pancreas(1)|prostate(5)|skin(3)|stomach(1)	75	Renal(175;0.00196)	Medulloblastoma(196;0.0377)|all_neural(177;0.121)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			GGTGCAACGTCGGAACACCAT	0.502													T	160061405	C	T	160061405	3	4	656	1	0	0	0	0	1	0	0	0	1122	884	31	1	3108	1	ATP10B	5	160061405	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	122907378	160061405	20853855	18	52390											
ADAT2	134637	broad.mit.edu	37	chr6	143771733	143771735	+	In_Frame_Del	DEL	CTC	CTC	-																															tcctccatccacttttcggtCtcctctgccgacaccgagca																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:143771733_143771735delCTC	ENST00000237283.8	-	1	75_77	c.61_63delGAG	c.(61-63)gagdel	p.E21del	ADAT2_ENST00000367593.1_5'UTR	NM_182503.2	NP_872309.2	Q7Z6V5	ADAT2_HUMAN	adenosine deaminase, tRNA-specific 2	21					tRNA processing		hydrolase activity|zinc ion binding			endometrium(2)|large_intestine(3)|lung(3)	8				OV - Ovarian serous cystadenocarcinoma(155;5.61e-06)|GBM - Glioblastoma multiforme(68;0.0115)		ACTTTTCGGTCTCCTCTGCCGAC	0.665													-	143771735	CTC	-	143771733	7	5	656	1	0	1	0	1	0	0	0	0	285	912	32	0	536	0	ADAT2	6	143771733	In_Frame_Del	DEL	CTC	TCGA-P5-A77X-01A-11D-A32B-08		143771733	27343334	19	52391											
LATS1	9113	broad.mit.edu	37	chr6	150001374	150001376	+	In_Frame_Del	DEL	GAA	GAA	-																															aacatgagcgacttgatttcGaagaagaacatctttctttc																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr6:150001374_150001376delGAA	ENST00000543571.1	-	5	2775_2777	c.2228_2230delTTC	c.(2227-2232)cttcga>cga	p.L743del	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_In_Frame_Del_p.L743del	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	743	Protein kinase.				cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		ACTTGATTTCGAAGAAGAACATC	0.384													-	150001376	GAA	-	150001374	7	5	656	1	0	1	0	1	0	0	0	0	8705	1066	37	0	1178	0	LATS1	6	150001374	In_Frame_Del	DEL	GAA	TCGA-P5-A77X-01A-11D-A32B-08	6229641	150001374	21113693	20	52392											
PSMA2	5683	broad.mit.edu	37	chr7	42966160	42966160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcggggcccatgccactgtAcaccaaacctatatgcttgg	10	9	9	13	1	0	0	0	0	0	0	1	0	0	0	4	3	4	2	4	3	4	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr7:42966160A>G	ENST00000442788.1	-	3	241	c.226T>C	c.(226-228)Tac>Cac	p.Y76H	PSMA2_ENST00000445517.1_Intron|PSMA2_ENST00000223321.4_Missense_Mutation_p.Y76H|PSMA2_ENST00000538645.1_5'UTR			P25787	PSA2_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 2	76					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|response to virus|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex, alpha-subunit complex	protein binding|threonine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)	10						ATGCCACTGTACACCAAACCT	0.373													G	42966160	A	G	42966160	3	3	656	1	0	0	0	0	1	0	0	0	12752	391	14	3	502	3	PSMA2	7	42966160	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		42966160	116172503	21	52393											
FAM84B	157638	broad.mit.edu	37	chr8	127568724	127568726	+	In_Frame_Del	DEL	TCC	TCC	-																															agtgtgccactgcctctccgTcctcctcctcggagctgggc																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr8:127568724_127568726delTCC	ENST00000304916.3	-	2	1364_1366	c.909_911delGGA	c.(907-912)gaggac>gac	p.E303del		NM_174911.4	NP_777571.1	Q96KN1	FA84B_HUMAN	family with sequence similarity 84, member B	303						cytoplasm|plasma membrane	protein binding			lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	5	Ovarian(5;9.43e-05)|Esophageal squamous(12;0.0012)|Hepatocellular(40;0.128)|Myeloproliferative disorder(2;0.135)		STAD - Stomach adenocarcinoma(47;0.000556)|Colorectal(2;0.0102)|Lung(2;0.0136)|READ - Rectum adenocarcinoma(2;0.0723)			TGCCTCTCCGTCCTCCTCCTCGG	0.7													-	127568726	TCC	-	127568724	7	5	656	1	0	1	0	1	0	0	0	0	5692	1667	58	0	25	0	FAM84B	8	127568724	In_Frame_Del	DEL	TCC	TCGA-P5-A77X-01A-11D-A32B-08		127568724	18795298	22	52394											
PRUNE2	158471	broad.mit.edu	37	chr9	79322596	79322596	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	actagaaatagtatctctgtCaaaatttccagacgaaccgg	15	10	7	9	2	2	2	1	0	1	2	4	3	3	2	2	1	1	1	2	1	7	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:79322596C>T	ENST00000428286.1	-	8	4717	c.3517G>A	c.(3517-3519)Gac>Aac	p.D1173N	PRUNE2_ENST00000376718.3_Missense_Mutation_p.D1532N			Q8WUY3	PRUN2_HUMAN	prune homolog 2 (Drosophila)	1532					apoptosis|G1 phase|induction of apoptosis	cytoplasm	metal ion binding|pyrophosphatase activity			endometrium(1)|kidney(4)|large_intestine(3)|lung(7)|prostate(1)	16						GTATCTCTGTCAAAATTTCCA	0.448													T	79322596	C	T	79322596	3	4	656	1	0	0	0	0	1	0	0	0	12726	826	29	2	4720	2	PRUNE2	9	79322596	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		79322596	61890835	23	52395											
WDR31	114987	broad.mit.edu	37	chr9	116080790	116080790	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatcttcaccttgcaaTcatgtgatgaggtagcaatt	12	13	7	9	0	3	2	2	2	1	0	4	2	4	2	2	1	2	3	2	1	4	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr9:116080790T>A	ENST00000374193.4	-	10	1154	c.908A>T	c.(907-909)gAt>gTt	p.D303V	WDR31_ENST00000374195.3_Missense_Mutation_p.D178V|WDR31_ENST00000341761.4_Missense_Mutation_p.D302V|WDR31_ENST00000461942.1_5'UTR	NM_001012361.2|NM_145241.3	NP_001012361.1|NP_660284.1	Q8NA23	WDR31_HUMAN	WD repeat domain 31	303										NS(1)|large_intestine(1)|lung(2)|prostate(2)	6						CACCTTGCAATCATGTGATGA	0.423													A	116080790	T	A	116080790	3	1	656	1	0	0	0	0	1	0	0	0	17388	1435	50	5	203	5	WDR31	9	116080790	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08	36758194	116080790	25132641	24	52396											
RET	5979	broad.mit.edu	37	chr10	43619143	43619143	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcttttggtgtcctgctgtgGgagatcgtgaccctaggggg	4	13	16	8	1	1	2	0	1	1	1	3	3	2	2	2	4	1	1	2	4	1	3			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:43619143G>A	ENST00000355710.3	+	17	3058	c.2826G>A	c.(2824-2826)tgG>tgA	p.W942*	RET_ENST00000340058.5_Nonsense_Mutation_p.W942*	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	942	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TCCTGCTGTGGGAGATCGTGA	0.602		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				A	43619143	G	A	43619143	4	1	656	1	0	0	0	0	0	1	0	0	13323	1241	43	2	2892	2	RET	10	43619143	Nonsense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		43619143	91915604	25	52397											
SYNPO2L	79933	broad.mit.edu	37	chr10	75406859	75406859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgatagggctgatgccGcataaaatctagagccttga	13	10	11	7	1	1	4	0	3	1	1	1	4	1	4	2	1	2	3	2	1	5	5			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr10:75406859G>A	ENST00000394810.2	-	4	2700	c.2551C>T	c.(2551-2553)Cgg>Tgg	p.R851W	SYNPO2L_ENST00000372873.4_Missense_Mutation_p.R627W	NM_001114133.1	NP_001107605.1	Q9H987	SYP2L_HUMAN	synaptopodin 2-like	851	Pro-rich.					cytoplasm|cytoskeleton	actin binding	p.R627W(2)|p.R851W(1)		breast(2)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Prostate(51;0.0112)					GGCTGATGCCGCATAAAATCT	0.577													A	75406859	G	A	75406859	3	1	656	1	0	0	0	0	1	0	0	0	15555	1086	38	1	386	1	SYNPO2L	10	75406859	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	31787716	75406859	60127888	26	52398											
TMEM86A	144110	broad.mit.edu	37	chr11	18723300	18723300	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatgtggcccttatcggctTcatgggctggcgagctatgg	5	12	14	10	2	1	0	1	0	0	0	2	1	1	0	1	5	1	3	1	5	3	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:18723300T>G	ENST00000280734.2	+	3	563	c.467T>G	c.(466-468)tTc>tGc	p.F156C		NM_153347.1	NP_699178.1	Q8N2M4	TM86A_HUMAN	transmembrane protein 86A	156						integral to membrane				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|skin(2)	11						CTTATCGGCTTCATGGGCTGG	0.627													G	18723300	T	G	18723300	3	3	656	1	0	0	0	0	1	0	0	0	16308	1783	62	5	477	5	TMEM86A	11	18723300	Missense_Mutation	SNP	T	TCGA-P5-A77X-01A-11D-A32B-08		18723300	116283216	27	52399											
PRPF19	27339	broad.mit.edu	37	chr11	60665317	60665317	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gagcccaggaccagcctctaCctgtaaagtgaagaatctcc	12	7	9	13	0	2	2	0	1	2	1	3	4	2	3	5	1	3	1	5	1	5	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:60665317C>G	ENST00000227524.4	-	15	1623		c.e15+1			NM_014502.4	NP_055317.1	Q9UMS4	PRP19_HUMAN	pre-mRNA processing factor 19						DNA repair|protein polyubiquitination|spliceosome assembly	catalytic step 2 spliceosome|nuclear speck|spindle|ubiquitin ligase complex	DNA binding|identical protein binding|ubiquitin-ubiquitin ligase activity			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	22						CCAGCCTCTACCTGTAAAGTG	0.527													G	60665317	C	G	60665317	5	3	656	1	0	0	0	0	0	0	1	0	12650	521	18	4	104	4	PRPF19	11	60665317	Splice_Site	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	41942017	60665317	74341199	28	52400											
PACS1	55690	broad.mit.edu	37	chr11	65838061	65838061	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcagcagccgccgccgcAgcagcagcagcagcagccgc	8	1	12	20	4	1	0	1	0	0	0	1	0	1	0	5	0	8	7	5	0	0	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:65838061A>C	ENST00000320580.4	+	1	137	c.104A>C	c.(103-105)cAg>cCg	p.Q35P		NM_018026.3	NP_060496.2	Q6VY07	PACS1_HUMAN	phosphofurin acidic cluster sorting protein 1	35	Gly-rich.|Poly-Gln.				interspecies interaction between organisms|regulation of defense response to virus by virus|viral reproduction	cytosol	protein binding		RBM14/PACS1(2)	breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(8)|lung(8)|ovary(6)|skin(2)|urinary_tract(1)	37						ccgccgccgcagcagcagcag	0.796													C	65838061	A	C	65838061	3	2	656	1	0	0	0	0	1	0	0	0	11448	188	7	5	106	5	PACS1	11	65838061	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08	5172744	65838061	69168455	29	52401											
USP28	57646	broad.mit.edu	37	chr11	113704275	113704276	+	Frame_Shift_Del	DEL	TT	TT	-																															gcataaacatgatatttctcTtttcctgtagaaaacacagt																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr11:113704275_113704276delTT	ENST00000003302.4	-	7	693_694	c.625_626delAA	c.(625-627)aagfs	p.K209fs	USP28_ENST00000537706.1_Frame_Shift_Del_p.K209fs|USP28_ENST00000545540.1_Frame_Shift_Del_p.K84fs|USP28_ENST00000542033.1_5'UTR|USP28_ENST00000260188.5_Frame_Shift_Del_p.K209fs	NM_020886.2	NP_065937.1	Q96RU2	UBP28_HUMAN	ubiquitin specific peptidase 28	209					cell proliferation|DNA damage checkpoint|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA repair|protein deubiquitination|response to ionizing radiation|ubiquitin-dependent protein catabolic process	nucleolus|nucleoplasm	protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|lung(24)|ovary(1)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	59		all_cancers(61;3.74e-18)|all_epithelial(67;3.75e-11)|Melanoma(852;1.46e-05)|all_hematologic(158;4.65e-05)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|Prostate(24;0.0153)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;3.93e-06)|Epithelial(105;0.000122)|all cancers(92;0.00104)		GATATTTCTCTTTTCCTGTAGA	0.332													-	113704276	TT	-	113704275	7	5	656	1	0	1	0	1	0	0	0	0	17160	1609	56	0	2683	0	USP28	11	113704275	Frame_Shift_Del	DEL	TT	TCGA-P5-A77X-01A-11D-A32B-08	47866214	113704275	21302241	30	52402											
TAS2R31	259290	broad.mit.edu	37	chr12	11183257	11183258	+	Frame_Shift_Del	DEL	TT	TT	-																															aagatcacagtttgcaaagcTtttatgtggaccttggtgct																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:11183257_11183258delTT	ENST00000390675.2	-	1	748_749	c.677_678delAA	c.(676-678)aaafs	p.K226fs	PRR4_ENST00000536668.1_Intron|TAS2R14_ENST00000381852.4_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	226					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						TTTGCAAAGCTTTTATGTGGAC	0.396													-	11183258	TT	-	11183257	7	5	656	1	0	1	0	1	0	0	0	0	15671	1606	56	0	255	0	TAS2R31	12	11183257	Frame_Shift_Del	DEL	TT	TCGA-P5-A77X-01A-11D-A32B-08		11183257	122668638	31	52403											
WDR66	144406	broad.mit.edu	37	chr12	122396945	122396945	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcctttcaaatattccaGaaccagtgtgactcatataa	15	11	6	9	0	2	3	2	1	0	2	3	3	3	3	3	0	2	0	3	0	5	5			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr12:122396945G>T	ENST00000288912.4	+	13	2932	c.2078G>T	c.(2077-2079)aGa>aTa	p.R693I	WDR66_ENST00000397454.2_Missense_Mutation_p.R693I	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	693							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		AAATATTCCAGAACCAGTGTG	0.423													T	122396945	G	T	122396945	3	4	656	1	0	0	0	0	1	0	0	0	17419	942	33	4	2124	4	WDR66	12	122396945	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	111213688	122396945	11454950	32	52404											
OLFM4	10562	broad.mit.edu	37	chr13	53603147	53603147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctccagctccagccgcaGcttaggcagcggaggttctg	6	7	15	13	2	1	0	0	0	1	0	3	1	3	1	3	4	4	6	3	4	1	2			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr13:53603147G>A	ENST00000219022.2	+	1	254	c.176G>A	c.(175-177)aGc>aAc	p.S59N		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	59	Ser-rich.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		tccagccgcagcTTAGGCAGC	0.572													A	53603147	G	A	53603147	3	1	656	1	0	0	0	0	1	0	0	0	10931	971	34	2	178	2	OLFM4	13	53603147	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		53603147	61566731	33	52405											
HDGFRP3	50810	broad.mit.edu	37	chr15	83876152	83876152	+	Frame_Shift_Del	DEL	C	C	-																															cccgctttgtactcgcggggCcgcggacgcgccatcccagc																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr15:83876152delC	ENST00000299633.4	-	1	618	c.15delG	c.(13-15)cggfs	p.R5fs	RP11-382A20.4_ENST00000565495.1_RNA	NM_016073.3	NP_057157.1	Q9Y3E1	HDGR3_HUMAN		5					cell proliferation	nucleus	growth factor activity			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						ACTCGCGGGGCCGCGGACGCG	0.756													-	83876152	C	-	83876152	7	5	656	1	0	1	0	1	0	0	0	0	7076	726	26	0	620	0	HDGFRP3	15	83876152	Frame_Shift_Del	DEL	C	TCGA-P5-A77X-01A-11D-A32B-08		83876152	18655240	34	52406											
CHD9	80205	broad.mit.edu	37	chr16	53276924	53276924	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagggcctgaaactcatgaAtctggtaagtaacttaatat	15	11	9	6	0	2	3	1	2	1	1	2	3	2	3	1	2	2	2	1	2	6	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr16:53276924A>G	ENST00000566029.1	+	13	3259	c.3050A>G	c.(3049-3051)aAt>aGt	p.N1017S	CHD9_ENST00000398510.3_Missense_Mutation_p.N1017S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1017S|CHD9_ENST00000447540.1_Missense_Mutation_p.N1017S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1017	Helicase ATP-binding.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AAACTCATGAATCTGGTAAGT	0.279													G	53276924	A	G	53276924	3	3	656	1	0	0	0	0	1	0	0	0	3362	101	4	3	3096	3	CHD9	16	53276924	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		53276924	37077829	35	52407											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215685	8215685	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgtcccggcgctccgcctccCcagaacctgctccccggtct	3	8	9	21	4	1	1	0	0	1	1	5	1	5	1	8	2	2	2	8	2	1	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:8215685C>T	ENST00000361926.3	+	2	438	c.328C>T	c.(328-330)Cca>Tca	p.P110S	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.P110S	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	110	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.P110T(1)		breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						CTCCGCCTCCCCAGAACCTGC	0.672													T	8215685	C	T	8215685	3	4	656	1	0	0	0	0	1	0	0	0	901	623	22	2	330	2	ARHGEF15	17	8215685	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		8215685	72979525	36	52408											
ATAD5	79915	broad.mit.edu	37	chr17	29220737	29220740	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															aaaggaaacaatccagagacAaagaaatctattccttgtcc																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:29220737_29220740delAAAG	ENST00000321990.4	+	21	5244_5247	c.4866_4869delAAAG	c.(4864-4869)acaaagfs	p.TK1622fs		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1622					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				ATCCAGAGACAAAGAAATCTATTC	0.392													-	29220740	AAAG	-	29220737	7	5	656	1	0	1	0	1	0	0	0	0	1081	117	5	0	4948	0	ATAD5	17	29220737	Frame_Shift_Del	DEL	AAAG	TCGA-P5-A77X-01A-11D-A32B-08	21005052	29220737	51974473	37	52409											
RHOT1	55288	broad.mit.edu	37	chr17	30534025	30534025	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcagcaatcccaaatcctttGaatactgtgccaggattttt	11	14	6	10	0	1	1	1	1	0	0	3	2	3	2	3	1	3	1	3	1	4	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:30534025G>A	ENST00000358365.3	+	17	1740	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	RHOT1_ENST00000581094.1_Missense_Mutation_p.E505K|RHOT1_ENST00000394692.2_Missense_Mutation_p.E505K|RHOT1_ENST00000583994.1_Missense_Mutation_p.E378K|RHOT1_ENST00000354266.3_Missense_Mutation_p.E484K|RHOT1_ENST00000333942.6_Missense_Mutation_p.E505K|RHOT1_ENST00000545287.2_Missense_Mutation_p.E505K	NM_001033568.1	NP_001028740.1	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	505	Miro 2.				apoptosis|cellular homeostasis|mitochondrion transport along microtubule|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to mitochondrial outer membrane|plasma membrane	calcium ion binding|GTP binding|GTPase activity|protein binding	p.E505Q(1)		NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CAAATCCTTTGAATACTGTGC	0.373													A	30534025	G	A	30534025	3	1	656	1	0	0	0	0	1	0	0	0	13432	1291	45	2	1579	2	RHOT1	17	30534025	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	1313288	30534025	50661185	38	52410											
LRRC37A2	474170	broad.mit.edu	37	chr17	44630791	44630793	+	In_Frame_Del	DEL	AAG	AAG	-																															ttgtcaccgaaggtcattacAagaagatgaagaaggattct																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:44630791_44630793delAAG	ENST00000576629.1	+	12	5330_5332	c.4835_4837delAAG	c.(4834-4839)caagaa>caa	p.E1613del	ARL17A_ENST00000329240.4_Intron|ARL17A_ENST00000445552.2_Intron|ARL17A_ENST00000337845.7_Intron|LRRC37A2_ENST00000333412.3_In_Frame_Del_p.E1613del|ARL17A_ENST00000573185.1_Intron|ARL17A_ENST00000570550.1_Intron			A6NM11	L37A2_HUMAN	leucine rich repeat containing 37, member A2	1613						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|pancreas(4)|prostate(2)	15		Melanoma(429;0.211)		BRCA - Breast invasive adenocarcinoma(366;0.232)		AGGTCATTACAAGAAGATGAAGA	0.369													-	44630793	AAG	-	44630791	7	5	656	1	0	1	0	1	0	0	0	0	9062	130	5	0	4877	0	LRRC37A2	17	44630791	In_Frame_Del	DEL	AAG	TCGA-P5-A77X-01A-11D-A32B-08	14096766	44630791	36564419	39	52411											
CACNA1G	8913	broad.mit.edu	37	chr17	48653584	48653584	+	Frame_Shift_Del	DEL	A	A	-																															acgctgaaggagaaggcactAgtagaggtggctgccagctc																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr17:48653584delA	ENST00000352832.5	+	8	2193	c.1821delA	c.(1819-1821)ctafs	p.L607fs	CACNA1G_ENST00000515165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000354983.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000512389.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000502264.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514181.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507336.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000442258.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514079.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513689.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000359106.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507609.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000514717.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515765.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000513964.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000503485.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507510.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000358244.5_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000416767.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510366.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000360761.4_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000429973.2_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000505165.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000515411.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000510115.1_Frame_Shift_Del_p.L607fs|CACNA1G_ENST00000507896.1_Frame_Shift_Del_p.L607fs	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	607					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	AGAAGGCACTAGTAGAGGTGG	0.637													-	48653584	A	-	48653584	7	5	656	1	0	1	0	1	0	0	0	0	2570	407	15	0	1851	0	CACNA1G	17	48653584	Frame_Shift_Del	DEL	A	TCGA-P5-A77X-01A-11D-A32B-08	4022793	48653584	32541626	40	52412											
MATK	4145	broad.mit.edu	37	chr19	3785085	3785086	+	Frame_Shift_Del	DEL	CA	CA	-																															gggaagttcctcagcagaatCacagccgtgaaatgcccgcc																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:3785085_3785086delCA	ENST00000310132.6	-	2	446_447	c.48_49delTG	c.(46-51)tgtgatfs	p.CD16fs	MATK_ENST00000585778.1_Frame_Shift_Del_p.CD16fs|MATK_ENST00000395045.2_Intron|MATK_ENST00000395040.2_Intron	NM_139355.2	NP_647612.1	P42679	MATK_HUMAN	megakaryocyte-associated tyrosine kinase	16					cell proliferation|mesoderm development|positive regulation of cell proliferation	cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|skin(2)|stomach(2)|urinary_tract(1)	26		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		TCAGCAGAATCACAGCCGTGAA	0.619													-	3785086	CA	-	3785085	7	5	656	1	0	1	0	1	0	0	0	0	9407	826	29	0	1526	0	MATK	19	3785085	Frame_Shift_Del	DEL	CA	TCGA-P5-A77X-01A-11D-A32B-08		3785085	55343898	41	52413											
CYP4F11	57834	broad.mit.edu	37	chr19	16040277	16040277	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacgggtacctgaggcactGgtgataggccggataatgtc	9	8	15	9	2	0	2	0	2	0	0	1	3	0	3	2	5	1	3	2	5	3	3			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:16040277G>A	ENST00000402119.4	-	2	759	c.333C>T	c.(331-333)acC>acT	p.T111T	CYP4F11_ENST00000326742.8_Silent_p.T111T|CYP4F11_ENST00000248041.8_Silent_p.T111T	NM_021187.3	NP_067010.3	Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						CTGAGGCACTGGTGATAGGCC	0.582													A	16040277	G	A	16040277	2	1	656	1	0	0	0	0	0	0	0	1	4219	1335	47	2		2	CYP4F11	19	16040277	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	12255192	16040277	43088706	42	52414											
CIC	23152	broad.mit.edu	37	chr19	42795543	42795544	+	Frame_Shift_Del	DEL	AA	AA	-																															cgggcacttccaccaacggcAaagtcctggctgccactgca																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr19:42795543_42795544delAA	ENST00000572681.2	+	11	5418_5419	c.5350_5351delAA	c.(5350-5352)aaafs	p.K1784fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.K875fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.K875fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	875					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CACCAACGGCAAAGTCCTGGCT	0.683			"Mis, F, S"		oligodendroglioma								-	42795544	AA	-	42795543	7	5	656	1	0	1	0	1	0	0	0	0	3454	131	5	0	2661	0	CIC	19	42795543	Frame_Shift_Del	DEL	AA	TCGA-P5-A77X-01A-11D-A32B-08	26755266	42795543	16333440	43	52415											
BIRC7	79444	broad.mit.edu	37	chr20	61867458	61867458	+	Frame_Shift_Del	DEL	A	A	-																															gtgttccctccatgggacctAaagacagtgccaagtgcctg																										TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr20:61867458delA	ENST00000217169.3	+	1	224	c.10delA	c.(10-12)aaafs	p.K4fs	BIRC7_ENST00000342412.6_Frame_Shift_Del_p.K4fs	NM_139317.1	NP_647478.1	Q96CA5	BIRC7_HUMAN	baculoviral IAP repeat containing 7	4					activation of JUN kinase activity|anti-apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytoplasm|nucleus	enzyme binding|zinc ion binding			endometrium(1)|kidney(1)|lung(9)|ovary(1)	12	all_cancers(38;2.72e-09)					CATGGGACCTAAAGACAGTGC	0.627													-	61867458	A	-	61867458	7	5	656	1	0	1	0	1	0	0	0	0	1445	363	13	0	12	0	BIRC7	20	61867458	Frame_Shift_Del	DEL	A	TCGA-P5-A77X-01A-11D-A32B-08		61867458	1158062	44	52416											
COL6A2	1292	broad.mit.edu	37	chr21	47545900	47545900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccggcgccagaagacacGtgtgtttgcggtggtcatca	8	8	15	10	4	2	2	2	0	0	2	2	3	2	2	2	3	2	1	2	3	1	1	rs145450812		TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr21:47545900G>A	ENST00000300527.4	+	26	2275	c.2171G>A	c.(2170-2172)cGt>cAt	p.R724H	COL6A2_ENST00000397763.1_Missense_Mutation_p.R724H|COL6A2_ENST00000310645.5_Missense_Mutation_p.R724H|COL6A2_ENST00000357838.4_Missense_Mutation_p.R724H|COL6A2_ENST00000409416.1_Missense_Mutation_p.R724H	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	724	Nonhelical region.|VWFA 2.		R -> C.		axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging			NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CAGAAGACACGTGTGTTTGCG	0.642													A	47545900	G	A	47545900	3	1	656	1	0	0	0	0	1	0	0	0	3731	1145	40	1	2269	1	COL6A2	21	47545900	Missense_Mutation	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08		47545900	583995	45	52417											
EP300	2033	broad.mit.edu	37	chr22	41513608	41513608	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatgaacacagggatgaatgCgggcatgaatcctggaatgt	14	8	13	6	1	0	3	0	3	0	0	1	5	1	5	1	3	2	1	1	3	5	0			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chr22:41513608C>T	ENST00000263253.7	+	2	1731	c.512C>T	c.(511-513)gCg>gTg	p.A171V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	171					apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						GGGATGAATGCGGGCATGAAT	0.502			"T,  N, F, Mis, O"	"MLL, RUNXBP2"	"colorectal, breast, pancreatic, AML, ALL, DLBCL"				Rubinstein-Taybi syndrome				T	41513608	C	T	41513608	3	4	656	1	0	0	0	0	1	0	0	0	5189	768	27	1	518	1	EP300	22	41513608	Missense_Mutation	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08		41513608	9790958	46	52418											
IL1RAPL1	11141	broad.mit.edu	37	chrX	29414470	29414470	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caagatgaagtattttgaaaAagctgaacttagcaaaagca	19	9	8	5	0	0	4	0	3	0	1	0	4	0	4	0	0	4	4	0	0	9	4			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:29414470A>C	ENST00000378993.1	+	4	1131	c.458A>C	c.(457-459)aAa>aCa	p.K153T	IL1RAPL1_ENST00000302196.4_Missense_Mutation_p.K153T	NM_014271.3	NP_055086.1	Q9NZN1	IRPL1_HUMAN	interleukin 1 receptor accessory protein-like 1	153	Ig-like C2-type 2.				innate immune response|negative regulation of calcium ion transport via voltage-gated calcium channel activity|negative regulation of exocytosis|regulation of neuron projection development	cytoplasm|integral to membrane|plasma membrane	protein binding|transmembrane receptor activity			biliary_tract(1)|breast(1)|endometrium(5)|large_intestine(9)|lung(38)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62						TATTTTGAAAAAGCTGAACTT	0.393													C	29414470	A	C	29414470	3	2	656	1	0	0	0	0	1	0	0	0	7719	14	1	5	468	5	IL1RAPL1	23	29414470	Missense_Mutation	SNP	A	TCGA-P5-A77X-01A-11D-A32B-08		29414470	125856090	47	52419											
SHROOM4	57477	broad.mit.edu	37	chrX	50377747	50377747	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggggacagagtccactggtgCccatcctgtacgggtgggag	7	7	17	10	1	0	1	0	0	0	1	2	3	2	3	3	5	2	1	3	5	1	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:50377747C>A	ENST00000376020.2	-	4	1351	c.1326G>T	c.(1324-1326)ggG>ggT	p.G442G	SHROOM4_ENST00000289292.7_Silent_p.G442G|SHROOM4_ENST00000460112.3_Silent_p.G326G	NM_020717.3	NP_065768.2	Q9ULL8	SHRM4_HUMAN	shroom family member 4	442					actin filament organization|brain development|cell morphogenesis|cognition	apical plasma membrane|basal plasma membrane|internal side of plasma membrane|nucleus	actin filament binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					TCCACTGGTGCCCATCCTGTA	0.577													A	50377747	C	A	50377747	2	1	656	1	0	0	0	0	0	0	0	1	14390	726	26	4		4	SHROOM4	23	50377747	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	20963277	50377747	104892813	48	52420											
GUCY2F	2986	broad.mit.edu	37	chrX	108719067	108719067	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagaaggcacaagcaccaCaggaacttggcagatgcaag	16	3	12	10	0	0	2	0	0	0	2	0	4	0	3	1	3	3	4	1	3	4	1			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:108719067C>A	ENST00000218006.2	-	2	390	c.99G>T	c.(97-99)ctG>ctT	p.L33L		NM_001522.2	NP_001513.2	P51841	GUC2F_HUMAN	guanylate cyclase 2F, retinal	33					intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(6)|large_intestine(14)|lung(33)|prostate(3)|skin(1)	67						ACAAGCACCACAGGAACTTGG	0.567											OREG0019905	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	108719067	C	A	108719067	2	1	656	1	0	0	0	0	0	0	0	1	6953	465	17	4		4	GUCY2F	23	108719067	Silent	SNP	C	TCGA-P5-A77X-01A-11D-A32B-08	58341320	108719067	46551493	49	52421											
IKBKG	8517	broad.mit.edu	37	chrX	153780226	153780226	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgccctgttggatgaatagGcacctctggaagagccaact	10	10	11	10	0	1	2	0	1	1	1	1	4	1	4	3	3	3	2	3	3	4	3			TCGA-P5-A77X-01A-11D-A32B-08	TCGA-P5-A77X-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a1b13a0-7298-4022-915f-dd2acdfd704f	6fb29fc2-6fba-49f9-ba3f-4404eb6eea1b	g.chrX:153780226G>A	ENST00000393549.2	+	2	132	c.9G>A	c.(7-9)agG>agA	p.R3R	IKBKG_ENST00000369609.5_Silent_p.R71R|IKBKG_ENST00000369601.3_Silent_p.R3R|IKBKG_ENST00000369606.4_Silent_p.R3R|IKBKG_ENST00000455588.2_Silent_p.R3R|IKBKG_ENST00000263518.6_Silent_p.R3R|IKBKG_ENST00000470142.1_Silent_p.R3R|IKBKG_ENST00000369602.3_Silent_p.R3R|IKBKG_ENST00000369607.1_Silent_p.R3R			Q9Y6K9	NEMO_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma	3					activation of MAPK activity|induction of apoptosis|innate immune response|interspecies interaction between organisms|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|stress-activated MAPK cascade|T cell receptor signaling pathway|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|transcription, DNA-dependent	cytosol|nucleus	metal ion binding|protein domain specific binding|signal transducer activity			endometrium(1)|lung(1)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGATGAATAGGCACCTCTGGA	0.577													A	153780226	G	A	153780226	2	1	656	1	0	0	0	0	0	0	0	1	7671	1194	42	2		2	IKBKG	23	153780226	Silent	SNP	G	TCGA-P5-A77X-01A-11D-A32B-08	45061159	153780226	1490334	50	52422											
ARID1A	8289	broad.mit.edu	37	chr1	27101119	27101119	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgagaccgtgtctctgcaccCcctggcaccaatgcccagca	8	6	9	18	2	1	1	0	0	1	1	2	2	1	1	5	1	3	3	5	1	1	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:27101119C>T	ENST00000324856.7	+	18	4772	c.4401C>T	c.(4399-4401)ccC>ccT	p.P1467P	ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Silent_p.P1084P|ARID1A_ENST00000540690.1_Intron	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1467					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCTCTGCACCCCCTGGCACCA	0.612			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27101119	C	T	27101119	2	4	657	1	0	0	0	0	0	0	0	1	916	610	22	2		2	ARID1A	1	27101119	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		27101119	222149502	1	52423											
SEC22B	9554	broad.mit.edu	37	chr1	145103950	145103950	+	RNA	DEL	C	C	-																															atcagagtcaggctaagtaaCtctttcgaaagttgaatgaa																										TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:145103950delC	ENST00000453618.1	+	0	445							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										GGCTAAGTAACTCTTTCGAAA	0.393													-	145103950	C	-	145103950	6	5	657	0	1	1	0	1	0	0	0	0	14082	565	20	0		0	SEC22B	1	145103950	RNA	DEL	C	TCGA-P5-A780-01A-12D-A32B-08	118002831	145103950	104146671	2	52424											
SETDB1	9869	broad.mit.edu	37	chr1	150933218	150933218	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaggaagatggcaacagcGgtacagaggaccctgaagag	15	3	14	9	1	0	4	0	1	0	3	0	6	0	6	2	4	3	2	2	4	4	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:150933218G>A	ENST00000271640.5	+	16	2870	c.2680G>A	c.(2680-2682)Ggt>Agt	p.G894S	SETDB1_ENST00000368969.4_Missense_Mutation_p.G894S|SETDB1_ENST00000459773.1_3'UTR	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	894	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TGGCAACAGCGGTACAGAGGA	0.502													A	150933218	G	A	150933218	3	1	657	1	0	0	0	0	1	0	0	0	14231	1116	39	1	2738	1	SETDB1	1	150933218	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	5829268	150933218	98317403	3	52425											
TLR5	7100	broad.mit.edu	37	chr1	223285784	223285784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgaggctaaaaaaggagagcGttttcccttgtaggggctcg	10	9	14	8	3	0	1	0	0	0	1	2	3	1	1	1	4	1	4	1	4	4	5	rs146146738		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:223285784G>A	ENST00000540964.1	-	4	1051	c.590C>T	c.(589-591)aCg>aTg	p.T197M	TLR5_ENST00000342210.6_Missense_Mutation_p.T197M			O60602	TLR5_HUMAN	toll-like receptor 5	197					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		AAAGGAGAGCGTTTTCCCTTG	0.428													A	223285784	G	A	223285784	3	1	657	1	0	0	0	0	1	0	0	0	16054	1145	40	1	1990	1	TLR5	1	223285784	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	72352566	223285784	25964837	4	52426											
OR2T33	391195	broad.mit.edu	37	chr1	248436203	248436203	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttttatgtttacacacGtccccagccaccgtttcagg	7	13	9	12	2	1	0	1	0	0	0	2	0	2	0	4	2	2	3	4	2	2	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr1:248436203G>A	ENST00000318021.2	-	1	935	c.914C>T	c.(913-915)aCg>aTg	p.T305M		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	305					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			GTTTACACACGTCCCCAGCCA	0.423													A	248436203	G	A	248436203	3	1	657	1	0	0	0	0	1	0	0	0	11100	1145	40	1	51	1	OR2T33	1	248436203	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	25150419	248436203	814418	5	52427											
APOB	338	broad.mit.edu	37	chr2	21263858	21263858	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttcttggttttcttcagcAaggctttgccctcagggttg	5	16	11	9	0	4	0	2	0	2	0	4	0	4	0	1	3	2	5	1	3	1	7			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:21263858A>C	ENST00000233242.1	-	4	462	c.335T>G	c.(334-336)tTg>tGg	p.L112W	APOB_ENST00000399256.4_Missense_Mutation_p.L112W	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	112	Heparin-binding.|Vitellogenin.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTTCTTCAGCAAGGCTTTGCC	0.527													C	21263858	A	C	21263858	3	2	657	1	0	0	0	0	1	0	0	0	788	131	5	5	13460	5	APOB	2	21263858	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		21263858	221935515	6	52428											
TRMT61B	55006	broad.mit.edu	37	chr2	29074043	29074043	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttttgagctaaaattcCatttttctgttttgcaaggc	9	19	6	7	0	1	1	0	1	1	0	2	1	2	1	1	1	3	3	1	1	4	9	rs147013173		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:29074043C>A	ENST00000306108.5	-	5	1230	c.1207G>T	c.(1207-1209)Gga>Tga	p.G403*		NM_017910.3	NP_060380.3	Q9BVS5	TR61B_HUMAN	tRNA methyltransferase 61 homolog B (S. cerevisiae)	403							tRNA (adenine-N1-)-methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(8)	13						GCTAAAATTCCATTTTTCTGT	0.363													A	29074043	C	A	29074043	4	1	657	1	0	0	0	0	0	1	0	0	16671	603	21	4	238	4	TRMT61B	2	29074043	Nonsense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	7810185	29074043	214125330	7	52429											
OSBPL6	114880	broad.mit.edu	37	chr2	179238675	179238675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagtagccaatgagagccGcctctccatgtcagagtctg	10	8	11	12	1	3	2	1	1	2	2	4	3	3	2	4	0	2	2	4	0	3	1	rs149806664		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr2:179238675G>A	ENST00000190611.4	+	15	1830	c.1454G>A	c.(1453-1455)cGc>cAc	p.R485H	OSBPL6_ENST00000315022.2_Missense_Mutation_p.R489H|OSBPL6_ENST00000409631.1_Missense_Mutation_p.R449H|OSBPL6_ENST00000357080.4_Missense_Mutation_p.R418H|OSBPL6_ENST00000409045.3_Missense_Mutation_p.R454H|OSBPL6_ENST00000392505.2_Missense_Mutation_p.R510H|OSBPL6_ENST00000359685.3_Missense_Mutation_p.R449H	NM_032523.3	NP_115912.1	Q9BZF3	OSBL6_HUMAN	oxysterol binding protein-like 6	485					lipid transport		lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(13)|lung(18)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00578)|Epithelial(96;0.00847)|all cancers(119;0.0335)			AATGAGAGCCGCCTCTCCATG	0.483													A	179238675	G	A	179238675	3	1	657	1	0	0	0	0	1	0	0	0	11357	1087	38	1	1626	1	OSBPL6	2	179238675	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	150164632	179238675	63960698	8	52430											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	657	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	29874437	209113112	34086261	9	52431											
PLCL2	23228	broad.mit.edu	37	chr3	17056281	17056281	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatgttggcggtgtctcccCgctttctggggcccgataac	4	11	13	13	3	2	0	0	0	2	0	3	1	2	0	3	4	1	3	3	4	1	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:17056281C>T	ENST00000418129.2	+	3	2983	c.2518C>T	c.(2518-2520)Cgc>Tgc	p.R840C	PLCL2_ENST00000432376.1_Missense_Mutation_p.R840C|PLCL2_ENST00000396755.2_Missense_Mutation_p.R840C	NM_001144382.1	NP_001137854.1	Q9UPR0	PLCL2_HUMAN	phospholipase C-like 2	966	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(4)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	43						GGTGTCTCCCCGCTTTCTGGG	0.537													T	17056281	C	T	17056281	3	4	657	1	0	0	0	0	1	0	0	0	12117	652	23	1	2900	1	PLCL2	3	17056281	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		17056281	180966149	10	52432											
SGOL1	151648	broad.mit.edu	37	chr3	20215787	20215787	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgtctctttttcatcTgtgtatttcagtgctctttt	3	21	5	12	1	5	0	2	0	3	0	7	0	6	0	2	0	1	2	2	0	1	6			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:20215787T>A	ENST00000412997.1	-	6	1587	c.1236A>T	c.(1234-1236)acA>acT	p.T412T	SGOL1_ENST00000412868.1_Silent_p.T412T|SGOL1_ENST00000442720.1_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000421451.1_Silent_p.T412T|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000263753.4_Silent_p.T412T|SGOL1_ENST00000417364.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	412					attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						CTTTTTCATCTGTGTATTTCA	0.403													A	20215787	T	A	20215787	2	1	657	1	0	0	0	0	0	0	0	1	14309	1567	55	5		5	SGOL1	3	20215787	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	3159506	20215787	177806643	11	52433											
CACNA1D	776	broad.mit.edu	37	chr3	53694205	53694205	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaaccaaagaaacagaaggCgggaaccactcaagcggcaa	18	3	10	10	2	1	2	1	0	0	2	1	3	1	3	2	3	4	1	2	3	7	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr3:53694205C>T	ENST00000288139.4	+	5	787	c.669C>T	c.(667-669)ggC>ggT	p.G223G	CACNA1D_ENST00000422281.2_Silent_p.G223G|CACNA1D_ENST00000350061.5_Silent_p.G223G	NM_000720.2	NP_000711.1	Q01668	CAC1D_HUMAN	calcium channel, voltage-dependent, L type, alpha 1D subunit						axon guidance|energy reserve metabolic process|regulation of insulin secretion	voltage-gated calcium channel complex	voltage-gated calcium channel activity			breast(3)|central_nervous_system(9)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(13)|liver(1)|lung(29)|ovary(6)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	90				BRCA - Breast invasive adenocarcinoma(193;0.00029)|KIRC - Kidney renal clear cell carcinoma(284;0.0145)|Kidney(284;0.0175)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	Verapamil(DB00661)	AAACAGAAGGCGGGAACCACT	0.458													T	53694205	C	T	53694205	2	4	657	1	0	0	0	0	0	0	0	1	2567	755	27	1		1	CACNA1D	3	53694205	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	33478418	53694205	144328225	12	52434											
CENPE	1062	broad.mit.edu	37	chr4	104030019	104030019	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggatgaggtgatggtaaaGactttgatcggctatcaaaa	13	11	12	5	1	1	4	1	3	0	1	2	5	1	5	0	4	0	2	0	4	5	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr4:104030019G>C	ENST00000265148.3	-	48	8041	c.7952C>G	c.(7951-7953)tCt>tGt	p.S2651C	CENPE_ENST00000380026.3_Missense_Mutation_p.S2530C	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2651	Globular autoinhibitory domain (By similarity).				blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity	p.S2614Y(1)		NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGATGGTAAAGACTTTGATCG	0.378													C	104030019	G	C	104030019	3	2	657	1	0	0	0	0	1	0	0	0	3260	942	33	4	161	4	CENPE	4	104030019	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		104030019	87124257	13	52435											
MAP1B	4131	broad.mit.edu	37	chr5	71493378	71493378	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagttttgtctcctttacGcagcccgcccctcattggat	8	13	7	13	2	2	0	1	0	1	0	3	1	2	1	4	1	2	2	4	1	3	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:71493378G>A	ENST00000296755.7	+	5	4494	c.4196G>A	c.(4195-4197)cGc>cAc	p.R1399H		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1399						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		TCTCCTTTACGCAGCCCGCCC	0.478													A	71493378	G	A	71493378	3	1	657	1	0	0	0	0	1	0	0	0	9303	1087	38	1	4214	1	MAP1B	5	71493378	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		71493378	109421882	14	52436											
PCDHB3	56132	broad.mit.edu	37	chr5	140481350	140481350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgttttcagtgtttctgatCtagactctggagacaacgga	9	14	10	8	1	4	3	1	1	3	2	4	5	4	4	0	2	1	2	0	2	2	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr5:140481350C>G	ENST00000231130.2	+	1	1117	c.1117C>G	c.(1117-1119)Cta>Gta	p.L373V	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		373	Cadherin 4.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGTTTCTGATCTAGACTCTGG	0.458													G	140481350	C	G	140481350	3	3	657	1	0	0	0	0	1	0	0	0	11619	912	32	4	1119	4	PCDHB3	5	140481350	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	68987972	140481350	40433910	15	52437											
FHL5	9457	broad.mit.edu	37	chr6	97051578	97051578	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggatgacagtccatactgtgTtacatgttatgatcgtgtat	10	15	10	6	1	0	2	0	2	0	0	2	3	1	3	1	1	2	3	1	1	4	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:97051578T>C	ENST00000326771.2	+	3	469	c.89T>C	c.(88-90)gTt>gCt	p.V30A	FHL5_ENST00000541107.1_Missense_Mutation_p.V30A	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	30						nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		CCATACTGTGTTACATGTTAT	0.353													C	97051578	T	C	97051578	3	2	657	1	0	0	0	0	1	0	0	0	5930	1725	60	3	91	3	FHL5	6	97051578	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		97051578	74063489	16	52438											
ROS1	6098	broad.mit.edu	37	chr6	117681518	117681518	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaatacctgatgttgtagaCtttacaacgtcagcatatgg	13	12	8	8	1	1	2	1	1	0	1	1	2	1	2	1	1	4	3	1	1	6	6			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:117681518C>A	ENST00000368508.3	-	22	3630	c.3432G>T	c.(3430-3432)aaG>aaT	p.K1144N	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.K1139N	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1144	Fibronectin type-III 5.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATGTTGTAGACTTTACAACGT	0.413			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117681518	C	A	117681518	3	1	657	1	0	0	0	0	1	0	0	0	13622	564	20	4	3699	4	ROS1	6	117681518	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	20629940	117681518	53433549	17	52439											
OPRM1	4988	broad.mit.edu	37	chr6	154567848	154567848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacccttggcagtcagcatgGcccagatctttacacgatat	10	10	8	13	1	2	1	1	0	1	1	2	2	2	1	2	2	2	2	2	2	2	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:154567848G>A	ENST00000337049.4	+	4	1236	c.1186G>A	c.(1186-1188)Gcc>Acc	p.A396T	IPCEF1_ENST00000422970.2_Silent_p.G41G|IPCEF1_ENST00000265198.4_Silent_p.G40G|IPCEF1_ENST00000519344.1_Silent_p.G12G|IPCEF1_ENST00000367220.4_Silent_p.G41G	NM_001008503.1	NP_001008503.2	P35372	OPRM_HUMAN	opioid receptor, mu 1	0					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	AGTCAGCATGGCCCAGATCTT	0.433													A	154567848	G	A	154567848	3	1	657	1	0	0	0	0	1	0	0	0	10963	1203	42	2	2033	2	OPRM1	6	154567848	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	36886330	154567848	16547219	18	52440											
SERAC1	84947	broad.mit.edu	37	chr6	158576366	158576366	+	Frame_Shift_Del	DEL	T	T	-																															ccctaaaataagtgatccagTaaactttattatatttcctt																										TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr6:158576366delT	ENST00000367102.2	-	3	250	c.109delA	c.(109-111)actfs	p.T37fs	SERAC1_ENST00000367101.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000607000.1_Frame_Shift_Del_p.T37fs|SERAC1_ENST00000367104.3_Frame_Shift_Del_p.T37fs			Q96JX3	SRAC1_HUMAN	serine active site containing 1	37					GPI anchor metabolic process|intracellular protein transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	binding|hydrolase activity, acting on ester bonds			endometrium(1)|kidney(2)|large_intestine(6)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	15		Breast(66;0.00519)|Ovarian(120;0.123)|Prostate(117;0.178)		OV - Ovarian serous cystadenocarcinoma(65;1.37e-18)|BRCA - Breast invasive adenocarcinoma(81;3.19e-05)		AGTGATCCAGTAAACTTTATT	0.318													-	158576366	T	-	158576366	7	5	657	1	0	1	0	1	0	0	0	0	14167	1638	57	0	1915	0	SERAC1	6	158576366	Frame_Shift_Del	DEL	T	TCGA-P5-A780-01A-12D-A32B-08	4008518	158576366	12538701	19	52441											
SAMD9	54809	broad.mit.edu	37	chr7	92734114	92734114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacagcaaaccatttaatttCcttcaggaaatctaagtgtt	14	14	5	8	0	2	0	1	0	1	0	3	1	3	1	2	1	3	2	2	1	5	7			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:92734114C>T	ENST00000379958.2	-	3	1566	c.1297G>A	c.(1297-1299)Gaa>Aaa	p.E433K		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	433						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			CATTTAATTTCCTTCAGGAAA	0.353													T	92734114	C	T	92734114	3	4	657	1	0	0	0	0	1	0	0	0	13917	864	30	2	3476	2	SAMD9	7	92734114	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		92734114	66404549	20	52442											
COL1A2	1278	broad.mit.edu	37	chr7	94041967	94041967	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggagagcctggcaacatTggattccctggacccaaagg	12	6	13	10	0	0	2	0	0	0	2	1	5	1	4	3	5	2	1	3	5	2	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:94041967T>C	ENST00000297268.6	+	25	1947	c.1476T>C	c.(1474-1476)atT>atC	p.I492I		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	492					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CTGGCAACATTGGATTCCCTG	0.498										HNSCC(75;0.22)			C	94041967	T	C	94041967	2	2	657	1	0	0	0	0	0	0	0	1	3709	1800	63	3		3	COL1A2	7	94041967	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	1307853	94041967	65096696	21	52443											
NPTX2	4885	broad.mit.edu	37	chr7	98256572	98256572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtgggaggcattccaggaCggagagaagctgggcactgg	10	6	18	7	1	0	1	0	0	0	1	1	5	1	4	1	6	1	3	1	6	1	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:98256572C>T	ENST00000265634.3	+	4	1149	c.984C>T	c.(982-984)gaC>gaT	p.D328D		NM_002523.2	NP_002514.1	P47972	NPTX2_HUMAN	neuronal pentraxin II	328	Pentaxin.				synaptic transmission	extracellular region	metal ion binding|sugar binding	p.D328D(1)		breast(1)|central_nervous_system(2)|endometrium(1)|large_intestine(5)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18	all_cancers(62;2.28e-09)|all_epithelial(64;4.86e-10)|Esophageal squamous(72;0.00918)|Lung NSC(181;0.0128)|all_lung(186;0.0142)		STAD - Stomach adenocarcinoma(171;0.215)			CATTCCAGGACGGAGAGAAGC	0.642													T	98256572	C	T	98256572	2	4	657	1	0	0	0	0	0	0	0	1	10679	535	19	1		1	NPTX2	7	98256572	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	4214605	98256572	60882091	22	52444											
PPP1R3A	5506	broad.mit.edu	37	chr7	113558563	113558563	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taatgtgtctgccagtcatcTaaagacattcttacatatac	13	14	5	9	0	4	1	1	0	3	1	4	1	4	1	1	0	3	0	1	0	6	6			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:113558563T>C	ENST00000284601.3	-	1	557	c.489A>G	c.(487-489)ttA>ttG	p.L163L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	163	CBM21.				glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GCCAGTCATCTAAAGACATTC	0.358													C	113558563	T	C	113558563	2	2	657	1	0	0	0	0	0	0	0	1	12453	1519	53	3		3	PPP1R3A	7	113558563	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	15301991	113558563	45580100	23	52445											
RNF133	168433	broad.mit.edu	37	chr7	122338418	122338418	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	accaaatagtgattcatccaGatgatgtgctttctccccac	11	12	6	12	0	2	3	1	2	1	1	4	3	3	3	4	0	1	1	4	0	2	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:122338418G>C	ENST00000340112.2	-	1	792	c.555C>G	c.(553-555)atC>atG	p.I185M	CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000313070.7_Intron|CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000412584.2_Intron	NM_139175.1	NP_631914.1	Q8WVZ7	RN133_HUMAN	ring finger protein 133	185						endoplasmic reticulum membrane|integral to membrane	ligase activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	21						GATTCATCCAGATGATGTGCT	0.373													C	122338418	G	C	122338418	3	2	657	1	0	0	0	0	1	0	0	0	13530	932	33	4	579	4	RNF133	7	122338418	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	8779855	122338418	36800245	24	52446											
SPAM1	6677	broad.mit.edu	37	chr7	123594538	123594538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccggtttttgcatatacccGcatagtttttactgatcaag	9	16	7	9	2	1	1	1	1	0	0	2	1	2	1	2	1	3	4	2	1	5	8	rs150235912	byFrequency	TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:123594538G>A	ENST00000340011.5	+	3	1271	c.914G>A	c.(913-915)cGc>cAc	p.R305H	SPAM1_ENST00000402183.2_Missense_Mutation_p.R305H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R305H|SPAM1_ENST00000439500.1_Missense_Mutation_p.R305H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R305H	NM_003117.4	NP_003108.2	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	305					binding of sperm to zona pellucida|carbohydrate metabolic process|cell adhesion|fusion of sperm to egg plasma membrane	anchored to membrane|plasma membrane	hyalurononglucosaminidase activity			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46					Hyaluronidase(DB00070)	GCATATACCCGCATAGTTTTT	0.388													A	123594538	G	A	123594538	3	1	657	1	0	0	0	0	1	0	0	0	15082	1087	38	1	916	1	SPAM1	7	123594538	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	1256120	123594538	35544125	25	52447											
OR2A25	392138	broad.mit.edu	37	chr7	143771700	143771700	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatctgccaccctctcCgatattctaccatcatgacc	8	11	5	17	1	4	1	1	1	3	0	5	2	4	1	6	1	2	0	6	1	2	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr7:143771700C>T	ENST00000408898.2	+	1	426	c.388C>T	c.(388-390)Cga>Tga	p.R130*		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	130					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					CCACCCTCTCCGATATTCTAC	0.463													T	143771700	C	T	143771700	4	4	657	1	0	0	0	0	0	1	0	0	11054	644	23	1	390	1	OR2A25	7	143771700	Nonsense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	20177162	143771700	15366963	26	52448											
MSRA	4482	broad.mit.edu	37	chr8	9912035	9912035	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggcgccctcccatgctctcGgccacccggagggcttgcca	4	7	12	18	3	1	0	0	0	1	0	3	1	2	1	5	4	2	2	5	4	0	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:9912035G>C	ENST00000317173.4	+	1	258	c.9G>C	c.(7-9)tcG>tcC	p.S3S	MSRA_ENST00000518255.1_Silent_p.S3S|MSRA_ENST00000441698.2_Silent_p.S3S	NM_012331.3	NP_036463.1	Q9UJ68	MSRA_HUMAN	methionine sulfoxide reductase A	3					methionine metabolic process|protein modification process|response to oxidative stress	mitochondrion|nucleus	peptide-methionine-(S)-S-oxide reductase activity			central_nervous_system(1)|endometrium(2)|kidney(1)|lung(4)	8		Myeloproliferative disorder(644;0.178)			L-Methionine(DB00134)	CCATGCTCTCGGCCACCCGGA	0.726													C	9912035	G	C	9912035	2	2	657	1	0	0	0	0	0	0	0	1	9963	1103	39	4		4	MSRA	8	9912035	Silent	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		9912035	136451987	27	52449											
ADAM7	8756	broad.mit.edu	37	chr8	24324409	24324409	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcaaatataacctgagggtgCcgtatggtgccaattattcc	11	12	9	9	1	1	1	1	1	0	0	2	1	2	1	4	2	3	1	4	2	6	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:24324409C>A	ENST00000175238.6	+	6	570	c.487C>A	c.(487-489)Ccg>Acg	p.P163T	ADAM7_ENST00000441335.2_Missense_Mutation_p.P163T|ADAM7_ENST00000380789.1_Missense_Mutation_p.P163T|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	163					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		CCTGAGGGTGCCGTATGGTGC	0.393													A	24324409	C	A	24324409	3	1	657	1	0	0	0	0	1	0	0	0	251	739	26	4	509	4	ADAM7	8	24324409	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	14412374	24324409	122039613	28	52450											
ANK1	286	broad.mit.edu	37	chr8	41575698	41575698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtggttctttttgcaggCgatgtgtaagggggtaaagc	8	12	16	5	2	1	0	0	0	1	0	1	2	1	0	0	4	2	4	0	4	3	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr8:41575698C>T	ENST00000396942.1	-	11	1215	c.1132G>A	c.(1132-1134)Gcc>Acc	p.A378T	ANK1_ENST00000289734.7_Missense_Mutation_p.A378T|ANK1_ENST00000265709.8_Missense_Mutation_p.A411T|ANK1_ENST00000379758.2_Missense_Mutation_p.A378T|ANK1_ENST00000347528.4_Missense_Mutation_p.A378T|ANK1_ENST00000352337.4_Missense_Mutation_p.A378T|ANK1_ENST00000396945.1_Missense_Mutation_p.A378T			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	378	89 kDa domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			TTTTTGCAGGCGATGTGTAAG	0.592													T	41575698	C	T	41575698	3	4	657	1	0	0	0	0	1	0	0	0	620	768	27	1	4995	1	ANK1	8	41575698	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	17251289	41575698	104788324	29	52451											
UBAP2	55833	broad.mit.edu	37	chr9	33933502	33933502	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatacctgctaagctgagaGagagggctgctagtcaggtc	10	8	13	10	0	1	2	1	1	0	2	2	4	1	2	2	2	4	4	2	2	3	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:33933502G>A	ENST00000379238.1	-	18	2211	c.2094C>T	c.(2092-2094)ctC>ctT	p.L698L	UBAP2_ENST00000360802.1_Silent_p.L698L|UBAP2_ENST00000539807.1_Silent_p.L453L|UBAP2_ENST00000449054.1_Silent_p.L698L|UBAP2_ENST00000379239.4_Silent_p.L431L|UBAP2_ENST00000418786.2_Silent_p.L645L			Q5T6F2	UBAP2_HUMAN	ubiquitin associated protein 2	698										endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(13)|ovary(3)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(29;0.00575)	GBM - Glioblastoma multiforme(74;0.168)		TAAGCTGAGAGAGAGGGCTGC	0.592													A	33933502	G	A	33933502	2	1	657	1	0	0	0	0	0	0	0	1	16939	929	33	2		2	UBAP2	9	33933502	Silent	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		33933502	107279929	30	52452											
RGS3	5998	broad.mit.edu	37	chr9	116276827	116276827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagaccatgaagggccacGggaactaccaaaactgcccg	13	4	11	13	2	0	2	0	1	0	1	0	3	0	3	4	2	5	1	4	2	5	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:116276827G>A	ENST00000374140.2	+	16	1776	c.1567G>A	c.(1567-1569)Ggg>Agg	p.G523R	RGS3_ENST00000394646.3_Missense_Mutation_p.G242R|RGS3_ENST00000374136.1_Missense_Mutation_p.G149R|RGS3_ENST00000317613.6_Missense_Mutation_p.G411R|RGS3_ENST00000350696.5_Missense_Mutation_p.G523R|RGS3_ENST00000343817.5_Missense_Mutation_p.G242R	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	523					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAAGGGCCACGGGAACTACCA	0.572													A	116276827	G	A	116276827	3	1	657	1	0	0	0	0	1	0	0	0	13395	1116	39	1	1766	1	RGS3	9	116276827	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	82343325	116276827	24936604	31	52453											
GOLGA2	2801	broad.mit.edu	37	chr9	131020288	131020288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccatggccccctgcagggCccggtgggtctccccacaca	5	6	11	19	1	1	0	0	0	1	0	3	0	2	0	6	4	1	1	6	4	0	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:131020288C>T	ENST00000421699.2	-	22	2410	c.2398G>A	c.(2398-2400)Gcc>Acc	p.A800T	GOLGA2_ENST00000609374.1_Missense_Mutation_p.A788T	NM_004486.4	NP_004477.3	Q08379	GOGA2_HUMAN	golgin A2	800						Golgi cisterna membrane	protein binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	34						CCCTGCAGGGCCCGGTGGGTC	0.677													T	131020288	C	T	131020288	3	4	657	1	0	0	0	0	1	0	0	0	6608	739	26	2	630	2	GOLGA2	9	131020288	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	14743461	131020288	10193143	32	52454											
KCNT1	57582	broad.mit.edu	37	chr9	138667250	138667250	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcccccttctgctgcctgCggctggacaaggtaaggctg	7	8	13	13	1	1	0	0	0	1	0	1	1	1	1	3	4	4	4	3	4	3	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr9:138667250C>T	ENST00000298480.5	+	20	2412	c.2338C>T	c.(2338-2340)Cgg>Tgg	p.R780W	KCNT1_ENST00000263604.3_Missense_Mutation_p.R761W|KCNT1_ENST00000486577.2_Missense_Mutation_p.R739W|KCNT1_ENST00000488444.2_Missense_Mutation_p.R761W|KCNT1_ENST00000490355.2_Missense_Mutation_p.R759W|KCNT1_ENST00000491806.2_Missense_Mutation_p.R747W|KCNT1_ENST00000487664.1_Missense_Mutation_p.R735W|KCNT1_ENST00000371757.2_Missense_Mutation_p.R780W			B7ZVY4	B7ZVY4_HUMAN	potassium channel, subfamily T, member 1	780						membrane	binding|calcium-activated potassium channel activity	p.R780R(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Myeloproliferative disorder(178;0.0821)		OV - Ovarian serous cystadenocarcinoma(145;2.11e-07)|Epithelial(140;1.57e-06)|all cancers(34;9.22e-05)		CTGCTGCCTGCGGCTGGACAA	0.642													T	138667250	C	T	138667250	3	4	657	1	0	0	0	0	1	0	0	0	8149	759	27	1	2416	1	KCNT1	9	138667250	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	7646962	138667250	2546181	33	52455											
ARHGAP21	57584	broad.mit.edu	37	chr10	24890933	24890933	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatcggtgacaaggggtcGgaaatgaagccacccttcct	10	9	11	11	2	0	2	0	2	0	0	3	3	1	3	3	4	1	0	3	4	4	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:24890933G>A	ENST00000396432.2	-	13	3307	c.2821C>T	c.(2821-2823)Cga>Tga	p.R941*	ARHGAP21_ENST00000493154.1_5'UTR|ARHGAP21_ENST00000320481.6_Nonsense_Mutation_p.R728*	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	940	Interaction with ARF1 and ARF6.|PH.				signal transduction	cell junction|cytoplasmic vesicle membrane|cytoskeleton|Golgi membrane	GTPase activator activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						ACAAGGGGTCGGAAATGAAGC	0.478													A	24890933	G	A	24890933	4	1	657	1	0	0	0	0	0	1	0	0	874	1124	39	1	3111	1	ARHGAP21	10	24890933	Nonsense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		24890933	110643814	34	52456											
MYOF	26509	broad.mit.edu	37	chr10	95111508	95111508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccatagatttcaacttcatCgaatataattgtttggtccc	11	15	5	10	1	2	1	2	0	0	1	4	2	3	1	2	1	1	1	2	1	5	7			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:95111508C>T	ENST00000371501.4	-	33	3699	c.3577G>A	c.(3577-3579)Gat>Aat	p.D1193N	MYOF_ENST00000359263.4_Missense_Mutation_p.D1193N|MYOF_ENST00000371502.4_Missense_Mutation_p.D1193N|MYOF_ENST00000358334.5_Missense_Mutation_p.D1180N			Q9NZM1	MYOF_HUMAN	myoferlin	1193	C2 4.				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCAACTTCATCGAATATAATT	0.413													T	95111508	C	T	95111508	3	4	657	1	0	0	0	0	1	0	0	0	10165	884	31	1	2696	1	MYOF	10	95111508	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	70220575	95111508	40423239	35	52457											
HPSE2	60495	broad.mit.edu	37	chr10	100374723	100374723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggtcaaaaaatgagtgccGtatcacgacatcaatgccct	14	9	8	10	2	3	1	3	1	0	0	3	2	3	1	2	1	2	1	2	1	5	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr10:100374723G>A	ENST00000370552.3	-	9	1317	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W	HPSE2_ENST00000404542.1_Missense_Mutation_p.R308W|HPSE2_ENST00000370549.1_Missense_Mutation_p.R362W|HPSE2_ENST00000370546.1_Missense_Mutation_p.R420W	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	420					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		AATGAGTGCCGTATCACGACA	0.398													A	100374723	G	A	100374723	3	1	657	1	0	0	0	0	1	0	0	0	7400	1144	40	1	574	1	HPSE2	10	100374723	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	5263215	100374723	35160024	36	52458											
PRDM10	56980	broad.mit.edu	37	chr11	129784846	129784846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacagctgtcgtcagtggtGtgtgtatggtgttggagagc	6	13	16	6	1	2	1	2	0	0	1	3	2	2	1	0	3	2	3	0	3	1	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr11:129784846G>A	ENST00000358825.5	-	18	2837	c.2606C>T	c.(2605-2607)aCa>aTa	p.T869I	PRDM10_ENST00000528746.1_Missense_Mutation_p.T839I|PRDM10_ENST00000423662.2_Missense_Mutation_p.T783I|PRDM10_ENST00000304538.6_Missense_Mutation_p.T779I|PRDM10_ENST00000360871.3_Missense_Mutation_p.T865I|PRDM10_ENST00000526082.1_Missense_Mutation_p.T783I	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	869	Thr-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CGTCAGTGGTGTGTGTATGGT	0.512													A	129784846	G	A	129784846	3	1	657	1	0	0	0	0	1	0	0	0	12537	1377	48	2	896	2	PRDM10	11	129784846	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		129784846	5221670	37	52459											
STYK1	55359	broad.mit.edu	37	chr12	10786670	10786670	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaagaaggatgaggaagaTagtaaccaacaaagttggga	18	5	12	6	0	0	3	0	1	0	2	0	6	0	6	2	3	2	2	2	3	7	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:10786670T>C	ENST00000075503.3	-	4	626	c.106A>G	c.(106-108)Atc>Gtc	p.I36V		NM_018423.2	NP_060893.2	Q6J9G0	STYK1_HUMAN	serine/threonine/tyrosine kinase 1	36						integral to membrane|plasma membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	26						ATGAGGAAGATAGTAACCAAC	0.453										HNSCC(73;0.22)			C	10786670	T	C	10786670	3	2	657	1	0	0	0	0	1	0	0	0	15455	1406	49	3	1194	3	STYK1	12	10786670	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		10786670	123065225	38	52460											
BCAT1	586	broad.mit.edu	37	chr12	24995135	24995135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatctactgcttcacattggGcaaaaagagatgagccgtaa	14	10	9	8	1	2	2	1	1	1	1	2	3	2	2	1	1	3	3	1	1	5	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:24995135G>A	ENST00000261192.7	-	7	1224	c.698C>T	c.(697-699)gCc>gTc	p.A233V	BCAT1_ENST00000539282.1_Missense_Mutation_p.A245V|BCAT1_ENST00000539780.1_Missense_Mutation_p.A196V|BCAT1_ENST00000544418.1_5'UTR|BCAT1_ENST00000342945.5_Missense_Mutation_p.A172V|BCAT1_ENST00000538118.1_Missense_Mutation_p.A232V	NM_001178091.1|NM_005504.6	NP_001171562.1|NP_005495.2	P54687	BCAT1_HUMAN	branched chain amino-acid transaminase 1, cytosolic	233					branched chain family amino acid biosynthetic process|branched chain family amino acid catabolic process|cell proliferation|G1/S transition of mitotic cell cycle	cytosol	L-isoleucine transaminase activity|L-leucine transaminase activity|L-valine transaminase activity			breast(1)|large_intestine(1)|lung(3)|prostate(2)	7	Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.00152)|Ovarian(17;0.107)|Colorectal(261;0.196)				Gabapentin(DB00996)|L-Glutamic Acid(DB00142)|L-Isoleucine(DB00167)|L-Leucine(DB00149)|L-Valine(DB00161)|Pyridoxal Phosphate(DB00114)	TTCACATTGGGCAAAAAGAGA	0.433													A	24995135	G	A	24995135	3	1	657	1	0	0	0	0	1	0	0	0	1359	1203	42	2	482	2	BCAT1	12	24995135	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	14208465	24995135	108856760	39	52461											
EIF4B	1975	broad.mit.edu	37	chr12	53412741	53412741	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcttttctaggaaacctacCctatgatgttacagaagagt	12	13	8	8	0	1	3	0	1	1	2	1	4	1	4	2	1	4	2	2	1	6	6			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:53412741C>T	ENST00000262056.9	+	3	637	c.311C>T	c.(310-312)cCc>cTc	p.P104L	EIF4B_ENST00000420463.3_Missense_Mutation_p.P104L|EIF4B_ENST00000416762.3_Missense_Mutation_p.P104L|EIF4B_ENST00000551527.1_3'UTR|RP11-983P16.4_ENST00000552905.1_RNA|RP11-983P16.4_ENST00000549388.1_RNA	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	104	RRM.				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAAACCTACCCTATGATGTT	0.423													T	53412741	C	T	53412741	3	4	657	1	0	0	0	0	1	0	0	0	5068	623	22	2	321	2	EIF4B	12	53412741	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	28417606	53412741	80439154	40	52462											
SDR9C7	121214	broad.mit.edu	37	chr12	57323245	57323245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcccaaagctttcgcatgCgtgactccaggttctccttg	6	13	8	14	2	2	1	0	1	2	0	6	1	3	1	3	1	2	3	3	1	1	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr12:57323245C>T	ENST00000293502.1	-	3	796	c.653G>A	c.(652-654)cGc>cAc	p.R218H		NM_148897.2	NP_683695.1	Q8NEX9	DR9C7_HUMAN	short chain dehydrogenase/reductase family 9C, member 7	218						cytoplasm	binding|oxidoreductase activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|pancreas(1)	7						CTTTCGCATGCGTGACTCCAG	0.557													T	57323245	C	T	57323245	3	4	657	1	0	0	0	0	1	0	0	0	14067	768	27	1	296	1	SDR9C7	12	57323245	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	3910504	57323245	76528650	41	52463											
MYCBP2	23077	broad.mit.edu	37	chr13	77663122	77663122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgtgggctgagattagccGagaaagctcaggagacggat	11	7	16	7	2	1	3	1	1	0	3	1	7	1	4	1	3	2	3	1	3	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr13:77663122G>A	ENST00000407578.2	-	61	10836	c.10570C>T	c.(10570-10572)Cgg>Tgg	p.R3524W	MYCBP2-AS1_ENST00000593933.1_RNA|MYCBP2_ENST00000357337.6_Missense_Mutation_p.R3486W|MYCBP2_ENST00000544440.2_Missense_Mutation_p.R3486W	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGATTAGCCGAGAAAGCTCA	0.363													A	77663122	G	A	77663122	3	1	657	1	0	0	0	0	1	0	0	0	10094	1057	37	1	3558	1	MYCBP2	13	77663122	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		77663122	37506756	42	52464											
TOX4	9878	broad.mit.edu	37	chr14	21964706	21964706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctttttctctcttagggAtgtattcttggcctgggtag	4	19	11	7	0	4	0	0	0	4	0	5	1	4	1	1	3	0	2	1	3	3	7			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:21964706A>G	ENST00000405508.1	+	10	2084	c.1808A>G	c.(1807-1809)gAt>gGt	p.D603G	TOX4_ENST00000262709.3_Missense_Mutation_p.D603G|TOX4_ENST00000448790.2_Missense_Mutation_p.D580G			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	603						chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding			large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		TCTCTTAGGGATGTATTCTTG	0.393													G	21964706	A	G	21964706	3	3	657	1	0	0	0	0	1	0	0	0	16481	333	12	3	1842	3	TOX4	14	21964706	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		21964706	85384834	43	52465											
ADCY4	196883	broad.mit.edu	37	chr14	24793576	24793576	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaggaaggtgatgctataCgtgatggccagagctggggg	10	7	19	5	1	0	3	0	2	0	1	0	5	0	5	1	6	3	2	1	6	3	2	rs141339113		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:24793576C>T	ENST00000310677.4	-	16	1958	c.1845G>A	c.(1843-1845)acG>acA	p.T615T	ADCY4_ENST00000418030.2_Silent_p.T615T|ADCY4_ENST00000554068.2_Silent_p.T615T|ADCY4_ENST00000396747.3_Silent_p.T308T	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	615					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGATGCTATACGTGATGGCCA	0.567													T	24793576	C	T	24793576	2	4	657	1	0	0	0	0	0	0	0	1	296	523	19	1		1	ADCY4	14	24793576	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	2828870	24793576	82555964	44	52466											
DYNC1H1	1778	broad.mit.edu	37	chr14	102510228	102510228	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagtctcccaacgagcgtgCccgcttgtacttcctgctgg	5	10	10	16	3	1	0	0	0	1	0	3	1	2	0	4	1	5	3	4	1	2	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr14:102510228C>T	ENST00000360184.4	+	70	12694	c.12530C>T	c.(12529-12531)gCc>gTc	p.A4177V	RP11-1017G21.4_ENST00000557242.1_RNA|RP11-1017G21.4_ENST00000553701.1_RNA|RP11-1017G21.4_ENST00000557551.1_RNA	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	4177	AAA 6 (By similarity).				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						AACGAGCGTGCCCGCTTGTAC	0.507													T	102510228	C	T	102510228	3	4	657	1	0	0	0	0	1	0	0	0	4880	739	26	2	12808	2	DYNC1H1	14	102510228	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	77716652	102510228	4839312	45	52467											
ANXA2	302	broad.mit.edu	37	chr15	60644017	60644017	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taactcttgtacctatcaaaTactgaggaaaaacaacaaag	19	9	5	8	0	2	1	1	1	1	0	2	2	2	2	1	1	5	1	1	1	9	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr15:60644017T>C	ENST00000396024.3	-	11	843	c.684A>G	c.(682-684)gtA>gtG	p.V228V	ANXA2_ENST00000451270.2_Splice_Site_p.V228V|ANXA2_ENST00000421017.2_Splice_Site_p.V228V|ANXA2_ENST00000332680.4_Splice_Site_p.V246V	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	228					angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)	ACCTATCAAATACTGAGGAAA	0.388													C	60644017	T	C	60644017	5	2	657	1	0	0	0	0	0	0	1	0	718	1420	49	3	351	3	ANXA2	15	60644017	Splice_Site	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		60644017	41887375	46	52468											
ALOX15	246	broad.mit.edu	37	chr17	4534928	4534928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgttttccaccacgctgggCcgcaggtactcgtagggcat	6	10	12	13	3	0	0	0	0	0	0	2	0	1	0	3	3	1	6	3	3	2	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:4534928C>T	ENST00000570836.1	-	15	2052	c.1956G>A	c.(1954-1956)cgG>cgA	p.R652R	ALOX15_ENST00000545513.1_Silent_p.R674R|ALOX15_ENST00000574640.1_Silent_p.R613R|ALOX15_ENST00000293761.3_Silent_p.R652R			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	652	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCACGCTGGGCCGCAGGTACT	0.552													T	4534928	C	T	4534928	2	4	657	1	0	0	0	0	0	0	0	1	538	726	26	2		2	ALOX15	17	4534928	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		4534928	76660282	47	52469											
TP53	7157	broad.mit.edu	37	chr17	7578442	7578442	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatgtgctgtgactgcttgTagatggccatggcgcggacg	6	11	15	9	3	1	2	1	1	0	1	1	3	1	3	1	3	2	3	1	3	1	2	rs148924904		TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:7578442T>C	ENST00000420246.2	-	5	620	c.488A>G	c.(487-489)tAc>tGc	p.Y163C	TP53_ENST00000269305.4_Missense_Mutation_p.Y163C|TP53_ENST00000359597.4_Missense_Mutation_p.Y163C|TP53_ENST00000455263.2_Missense_Mutation_p.Y163C|TP53_ENST00000445888.2_Missense_Mutation_p.Y163C|TP53_ENST00000413465.2_Missense_Mutation_p.Y163C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	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 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.Y163C(134)|p.Y70C(12)|p.Y31C(12)|p.0?(8)|p.Y163S(7)|p.V157_C176del20(1)|p.Y31S(1)|p.Y163fs*1(1)|p.Y70S(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.Y163fs*14(1)|p.S149fs*72(1)|p.A159_Q167delAMAIYKQSQ(1)|p.I162_Y163delIY(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)		TGACTGCTTGTAGATGGCCAT	0.622		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)			C	7578442	T	C	7578442	3	2	657	1	0	0	0	0	1	0	0	0	16482	1638	57	3	810	3	TP53	17	7578442	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	3043514	7578442	73616768	48	52470											
CCDC40	55036	broad.mit.edu	37	chr17	78055796	78055796	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcaggagcacatgacctccaAcaagaccaccaaatacttca	16	5	6	14	0	1	2	1	1	0	1	2	3	2	3	4	1	3	2	4	1	4	2			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr17:78055796A>G	ENST00000397545.4	+	12	1955	c.1928A>G	c.(1927-1929)aAc>aGc	p.N643S	CCDC40_ENST00000374877.3_Missense_Mutation_p.N643S	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	643					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium|cytoplasm				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			ATGACCTCCAACAAGACCACC	0.612													G	78055796	A	G	78055796	3	3	657	1	0	0	0	0	1	0	0	0	2839	43	2	3	1974	3	CCDC40	17	78055796	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	70477354	78055796	3139414	49	52471											
SERPINB7	8710	broad.mit.edu	37	chr18	61468117	61468117	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtgctctgggaaggcagtCgccatgatgcatcaggaacg	10	7	14	10	2	2	1	1	1	1	0	3	3	2	3	1	3	3	3	1	3	2	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:61468117C>T	ENST00000398019.2	+	7	940	c.615C>T	c.(613-615)gtC>gtT	p.V205V	SERPINB7_ENST00000336429.2_Silent_p.V205V|SERPINB7_ENST00000546027.1_Silent_p.V205V|SERPINB7_ENST00000540675.1_Silent_p.V188V	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	205					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				GGAAGGCAGTCGCCATGATGC	0.368													T	61468117	C	T	61468117	2	4	657	1	0	0	0	0	0	0	0	1	14199	871	31	1		1	SERPINB7	18	61468117	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08		61468117	16609131	50	52472											
TSHZ1	10194	broad.mit.edu	37	chr18	72999831	72999831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaagccgctggtgtccagCgtggctgattcggtggcatc	7	9	14	11	3	0	1	0	1	0	0	3	1	1	1	2	4	3	3	2	4	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr18:72999831C>T	ENST00000322038.5	+	2	2918	c.2334C>T	c.(2332-2334)agC>agT	p.S778S	TSHZ1_ENST00000580243.1_Silent_p.S823S	NM_005786.5	NP_005777.3	Q6ZSZ6	TSH1_HUMAN	teashirt zinc finger homeobox 1	823						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(11)|liver(1)|lung(14)|ovary(1)|skin(6)|upper_aerodigestive_tract(2)	42		Esophageal squamous(42;0.129)|Prostate(75;0.142)|Melanoma(33;0.211)		Colorectal(1;0.000501)|READ - Rectum adenocarcinoma(2;0.00226)|BRCA - Breast invasive adenocarcinoma(31;0.246)		TGGTGTCCAGCGTGGCTGATT	0.572													T	72999831	C	T	72999831	2	4	657	1	0	0	0	0	0	0	0	1	16724	767	27	1		1	TSHZ1	18	72999831	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	11531714	72999831	5077417	51	52473											
ZNF676	163223	broad.mit.edu	37	chr19	22379553	22379553	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacacacacaaacacataTatttaccaattggtcatggg	18	9	5	9	0	1	0	1	0	0	0	1	0	1	0	1	2	3	0	1	2	7	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:22379553T>C	ENST00000397121.2	-	0	200					NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				CAAACACATATATTTACCAAT	0.408													C	22379553	T	C	22379553	1	2	657	1	0	0	0	0	0	0	0	0	18184	1421	49	3		3	ZNF676	19	22379553	Translation_Start_Site	SNP	T	TCGA-P5-A780-01A-12D-A32B-08		22379553	36749430	52	52474											
ZNF681	148213	broad.mit.edu	37	chr19	23927680	23927680	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cattcttcacatatgtacgaTttctctccaatatgaattct	11	17	3	10	1	4	1	1	1	3	0	6	2	5	1	1	0	1	1	1	0	5	7			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:23927680T>C	ENST00000402377.3	-	4	813	c.672A>G	c.(670-672)aaA>aaG	p.K224K	ZNF681_ENST00000395385.3_Silent_p.K155K	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	224				K -> R (in Ref. 1; BAG53769).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ATATGTACGATTTCTCTCCAA	0.328													C	23927680	T	C	23927680	2	2	657	1	0	0	0	0	0	0	0	1	18189	1490	52	3		3	ZNF681	19	23927680	Silent	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	1548127	23927680	35201303	53	52475											
PRKD2	25865	broad.mit.edu	37	chr19	47219549	47219549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggtggcggcgactgcagctCtaggccgccggggggcggag	4	4	21	12	6	1	0	0	0	1	0	1	2	1	1	2	8	2	2	2	8	1	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:47219549C>T	ENST00000433867.1	-	2	556	c.79G>A	c.(79-81)Gag>Aag	p.E27K	PRKD2_ENST00000601806.1_Intron|PRKD2_ENST00000291281.4_Missense_Mutation_p.E27K|PRKD2_ENST00000595515.1_Missense_Mutation_p.E27K	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	27					cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GACTGCAGCTCTAGGCCGCCG	0.741													T	47219549	C	T	47219549	3	4	657	1	0	0	0	0	1	0	0	0	12605	922	32	2	2629	2	PRKD2	19	47219549	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	23291869	47219549	11909434	54	52476											
EPS8L1	54869	broad.mit.edu	37	chr19	55594964	55594964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgcctggccccgcctgacccGactgtcttacttcctacagc	5	9	8	19	3	1	1	0	1	1	0	2	2	2	1	6	1	3	0	6	1	2	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr19:55594964G>A	ENST00000586329.1	+	10	1557	c.1379G>A	c.(1378-1380)cGa>cAa	p.R460Q	EPS8L1_ENST00000540810.1_Intron|EPS8L1_ENST00000201647.6_Intron|EPS8L1_ENST00000588359.1_Missense_Mutation_p.R132Q|EPS8L1_ENST00000592824.1_Intron|EPS8L1_ENST00000245618.5_Intron			Q8TE68	ES8L1_HUMAN	EPS8-like 1	452						cytoplasm				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|liver(2)|lung(3)|ovary(1)|prostate(1)	12			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		CGCCTGACCCGACTGTCTTAC	0.716													A	55594964	G	A	55594964	3	1	657	1	0	0	0	0	1	0	0	0	5236	1073	37	1		1	EPS8L1	19	55594964	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	8375415	55594964	3534019	55	52477											
SRXN1	140809	broad.mit.edu	37	chr20	629365	629365	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaaggaggctgctactgcAagtctggtgtggatgctccc	7	9	14	11	0	1	0	0	0	1	0	2	2	2	2	2	4	4	4	2	4	3	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:629365A>C	ENST00000381962.3	-	2	591	c.407T>G	c.(406-408)tTg>tGg	p.L136W	RP5-850E9.3_ENST00000488788.2_3'UTR	NM_080725.1	NP_542763.1	Q9BYN0	SRXN1_HUMAN	sulfiredoxin 1	136					response to oxidative stress	cytosol	antioxidant activity|ATP binding|DNA binding|sulfiredoxin activity			large_intestine(1)|lung(2)|ovary(1)|prostate(1)	5						CTGCTACTGCAAGTCTGGTGT	0.612													C	629365	A	C	629365	3	2	657	1	0	0	0	0	1	0	0	0	15269	131	5	5	10	5	SRXN1	20	629365	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08		629365	62396155	56	52478											
CBLN4	140689	broad.mit.edu	37	chr20	54573643	54573643	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaccagaaagccagaaaaCgtggaatactgccagcctcc	16	4	8	13	1	0	2	0	0	0	2	1	3	1	3	5	1	6	0	5	1	6	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr20:54573643C>T	ENST00000064571.2	-	3	1876	c.576G>A	c.(574-576)acG>acA	p.T192T		NM_080617.5	NP_542184.1	Q9NTU7	CBLN4_HUMAN	cerebellin 4 precursor	192	C1q.					cell junction|extracellular region|synapse				endometrium(2)|large_intestine(1)|lung(10)|ovary(3)|pancreas(1)	17			Colorectal(105;0.202)			AGCCAGAAAACGTGGAATACT	0.443													T	54573643	C	T	54573643	2	4	657	1	0	0	0	0	0	0	0	1	2733	523	19	1		1	CBLN4	20	54573643	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	53944278	54573643	8451877	57	52479											
DRG1	4733	broad.mit.edu	37	chr22	31796608	31796608	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgattcctcccttttagatGgctcggactcaaaagaacaa	12	11	8	10	1	1	3	1	1	0	2	4	4	3	4	2	2	1	1	2	2	5	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:31796608G>T	ENST00000331457.4	+	2	206	c.45G>T	c.(43-45)atG>atT	p.M15I	DRG1_ENST00000433341.1_3'UTR	NM_004147.3	NP_004138.1	Q9Y295	DRG1_HUMAN	developmentally regulated GTP binding protein 1	15					multicellular organismal development|transcription, DNA-dependent	cytoplasm|intermediate filament cytoskeleton|nucleus	GTP binding|transcription factor binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|prostate(1)|urinary_tract(1)	11						CCTTTTAGATGGCTCGGACTC	0.468													T	31796608	G	T	31796608	3	4	657	1	0	0	0	0	1	0	0	0	4800	1348	47	4	51	4	DRG1	22	31796608	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		31796608	19507958	58	52480											
PARVB	29780	broad.mit.edu	37	chr22	44514963	44514963	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtggaggagaggatcAttgtgaagcagctggaggaa	11	8	18	4	0	1	2	1	1	0	1	1	7	1	6	0	6	3	3	0	6	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chr22:44514963A>G	ENST00000338758.7	+	4	382	c.319A>G	c.(319-321)Att>Gtt	p.I107V	PARVB_ENST00000404989.1_Missense_Mutation_p.I70V|PARVB_ENST00000406477.3_Missense_Mutation_p.I140V	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta		CH 1.				cell adhesion|cell junction assembly	cytoskeleton|cytosol|focal adhesion	actin binding			NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				GGAGAGGATCATTGTGAAGCA	0.592													G	44514963	A	G	44514963	3	3	657	1	0	0	0	0	1	0	0	0	11545	217	8	3	552	3	PARVB	22	44514963	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	12718355	44514963	6789603	59	52481											
WWC3	55841	broad.mit.edu	37	chrX	10107547	10107547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccagctgcgtgggcagaGccacaaagagcccatccaag	12	4	11	14	1	0	2	0	0	0	2	1	2	1	2	4	1	5	2	4	1	3	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10107547G>A	ENST00000380861.4	+	22	3570	c.3179G>A	c.(3178-3180)aGc>aAc	p.S1060N	WWC3_ENST00000454666.1_Missense_Mutation_p.S1060N	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	1060										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CGTGGGCAGAGCCACAAAGAG	0.582													A	10107547	G	A	10107547	3	1	657	1	0	0	0	0	1	0	0	0	17515	971	34	2	3261	2	WWC3	23	10107547	Missense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08		10107547	145163013	60	52482											
MID1	4281	broad.mit.edu	37	chrX	10442675	10442675	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gacaatacctgtaaggtaatCcagacattctagcagtttct	13	12	7	9	0	2	1	0	0	2	1	3	2	3	1	2	1	2	4	2	1	5	6			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:10442675C>G	ENST00000317552.4	-	6	1529	c.1129G>C	c.(1129-1131)Gat>Cat	p.D377H	MID1_ENST00000380779.1_Missense_Mutation_p.D377H|MID1_ENST00000380780.1_Missense_Mutation_p.D377H|MID1_ENST00000380782.2_Missense_Mutation_p.D377H|MID1_ENST00000453318.2_Missense_Mutation_p.D377H|MID1_ENST00000380785.1_Missense_Mutation_p.D377H|MID1_ENST00000380787.1_Missense_Mutation_p.D377H	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1 (Opitz/BBB syndrome)	377	COS.				microtubule cytoskeleton organization|pattern specification process|positive regulation of stress-activated MAPK cascade	cytoplasm|microtubule|microtubule associated complex|spindle	ligase activity|ubiquitin protein ligase binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						GTAAGGTAATCCAGACATTCT	0.383													G	10442675	C	G	10442675	3	3	657	1	0	0	0	0	1	0	0	0	9651	855	30	4	894	4	MID1	23	10442675	Missense_Mutation	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	335128	10442675	144827885	61	52483											
MSN	4478	broad.mit.edu	37	chrX	64947733	64947733	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtctgcagtaccaggacActaaaggtttctccacctgg	9	11	10	11	0	2	0	0	0	2	0	3	1	2	1	3	4	2	3	3	4	3	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:64947733A>G	ENST00000360270.5	+	3	326	c.154A>G	c.(154-156)Act>Gct	p.T52A		NM_002444.2	NP_002435.1	P26038	MOES_HUMAN	moesin	52	FERM.				leukocyte cell-cell adhesion|leukocyte migration|membrane to membrane docking	apical plasma membrane|cytoskeleton|extrinsic to membrane|microvillus membrane|nucleolus	cell adhesion molecule binding|receptor binding|structural constituent of cytoskeleton		MSN/ALK(6)	breast(4)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	43						GTACCAGGACACTAAAGGTTT	0.403			T	ALK	ALCL								G	64947733	A	G	64947733	3	3	657	1	0	0	0	0	1	0	0	0	9961	159	6	3	164	3	MSN	23	64947733	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	54505058	64947733	90322827	62	52484											
CAPN6	827	broad.mit.edu	37	chrX	110497569	110497569	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	attggcttgtgccccagtctCccttgggtcagctggtggtt	3	14	13	11	0	2	0	1	0	1	0	3	0	2	0	3	4	2	3	3	4	0	4			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:110497569C>T	ENST00000324068.1	-	3	395	c.228G>A	c.(226-228)ggG>ggA	p.G76G	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	76	Calpain catalytic.				microtubule bundle formation|proteolysis|regulation of cytoskeleton organization	perinuclear region of cytoplasm|spindle microtubule	calcium-dependent cysteine-type endopeptidase activity|microtubule binding			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GCCCCAGTCTCCCTTGGGTCA	0.468													T	110497569	C	T	110497569	2	4	657	1	0	0	0	0	0	0	0	1	2656	842	30	2		2	CAPN6	23	110497569	Silent	SNP	C	TCGA-P5-A780-01A-12D-A32B-08	45549836	110497569	44772991	63	52485											
BCORL1	63035	broad.mit.edu	37	chrX	129190022	129190022	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgacagatcccccccaggcTcctctgagactgtggagctg	8	7	11	15	1	1	2	0	1	1	2	3	5	3	3	4	2	1	2	4	2	0	0			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:129190022T>C	ENST00000540052.1	+	12	5091	c.5047T>C	c.(5047-5049)Tcc>Ccc	p.S1683P	BCORL1_ENST00000303743.5_Missense_Mutation_p.S1757P|BCORL1_ENST00000359304.2_Missense_Mutation_p.S1553P|BCORL1_ENST00000218147.7_Missense_Mutation_p.S1683P	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1683					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CCCCCCAGGCTCCTCTGAGAC	0.617													C	129190022	T	C	129190022	3	2	657	1	0	0	0	0	1	0	0	0	1392	1551	54	3	5319	3	BCORL1	23	129190022	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	18692453	129190022	26080538	64	52486											
USP26	83844	broad.mit.edu	37	chrX	132160182	132160182	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggattttcgggcactgtttgAaagtcaacttttgagagagg	10	13	13	5	1	1	3	1	2	0	1	2	5	1	4	0	3	1	2	0	3	2	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:132160182A>G	ENST00000511190.1	-	6	2536	c.2067T>C	c.(2065-2067)ttT>ttC	p.F689F	USP26_ENST00000406273.1_Silent_p.F689F|USP26_ENST00000370832.1_Silent_p.F689F	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	689					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					GCACTGTTTGAAAGTCAACTT	0.398													G	132160182	A	G	132160182	2	3	657	1	0	0	0	0	0	0	0	1	17159	243	9	3		3	USP26	23	132160182	Silent	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	2970160	132160182	23110378	65	52487											
LDOC1	23641	broad.mit.edu	37	chrX	140271196	140271196	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcagcagcagcaccaacTcatccaccattgcgaacggc	11	5	9	16	3	1	0	1	0	0	0	2	1	2	0	3	1	7	4	3	1	2	1			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140271196T>C	ENST00000370526.2	-	1	114	c.11A>G	c.(10-12)gAg>gGg	p.E4G	LDOC1_ENST00000460721.1_5'UTR	NM_012317.2	NP_036449.1	O95751	LDOC1_HUMAN	leucine zipper, down-regulated in cancer 1	4					negative regulation of cell proliferation	nucleus	protein binding			endometrium(6)|large_intestine(1)|lung(6)|ovary(1)	14	Acute lymphoblastic leukemia(192;7.65e-05)					CAGCACCAACTCATCCACCAT	0.662													C	140271196	T	C	140271196	3	2	657	1	0	0	0	0	1	0	0	0	8768	1551	54	3	433	3	LDOC1	23	140271196	Missense_Mutation	SNP	T	TCGA-P5-A780-01A-12D-A32B-08	8111014	140271196	14999364	66	52488											
SPANXC	64663	broad.mit.edu	37	chrX	140335727	140335727	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggttgattctgttctctcGggcgtggtcattcagcagtt	4	15	14	8	2	4	1	2	1	2	0	6	1	4	1	0	4	1	4	0	4	0	5			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:140335727G>A	ENST00000358993.2	-	2	255	c.217C>T	c.(217-219)Cga>Tga	p.R73*		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	73						cytoplasm|nucleus		p.R73R(1)		large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					CTGTTCTCTCGGGCGTGGTCA	0.443													A	140335727	G	A	140335727	4	1	657	1	0	0	0	0	0	1	0	0	15083	1124	39	1	80	1	SPANXC	23	140335727	Nonsense_Mutation	SNP	G	TCGA-P5-A780-01A-12D-A32B-08	64531	140335727	14934833	67	52489											
MAMLD1	10046	broad.mit.edu	37	chrX	149639254	149639254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctagcccaggcttgccacAgcagtccttcaccccacagt	8	8	7	18	0	2	0	1	0	1	0	3	0	3	0	5	1	3	2	5	1	1	3			TCGA-P5-A780-01A-12D-A32B-08	TCGA-P5-A780-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14f0de61-9980-42b7-9345-af866a0b2d57	4a40cdf3-a3a4-439d-ad86-13cf84db9049	g.chrX:149639254A>G	ENST00000370401.2	+	4	1719	c.1409A>G	c.(1408-1410)cAg>cGg	p.Q470R	MAMLD1_ENST00000262858.5_Missense_Mutation_p.Q470R|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q445R|MAMLD1_ENST00000426613.2_Missense_Mutation_p.Q445R			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	470					male gonad development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTTGCCACAGCAGTCCTTC	0.592													G	149639254	A	G	149639254	3	3	657	1	0	0	0	0	1	0	0	0	9283	188	7	3	1419	3	MAMLD1	23	149639254	Missense_Mutation	SNP	A	TCGA-P5-A780-01A-12D-A32B-08	9303527	149639254	5631306	68	52490											
CALML6	163688	broad.mit.edu	37	chr1	1848242	1848242	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactaatgggagtttaccAtgagaaggcccagaaccagg	13	6	13	9	0	0	2	0	1	0	2	0	4	0	3	3	4	2	2	3	4	4	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr1:1848242A>T	ENST00000307786.3	+	4	759	c.305A>T	c.(304-306)cAt>cTt	p.H102L	CALML6_ENST00000462293.1_3'UTR	NM_138705.2	NP_619650.2	Q8TD86	CALL6_HUMAN	calmodulin-like 6	102	EF-hand 2.					cytoplasm|nucleus	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.94e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.83e-23)|GBM - Glioblastoma multiforme(42;3.23e-08)|Colorectal(212;3.98e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00437)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.199)		GGAGTTTACCATGAGAAGGCC	0.562													T	1848242	A	T	1848242	3	4	658	1	0	0	0	0	1	0	0	0	2616	217	8	5	319	5	CALML6	1	1848242	Missense_Mutation	SNP	A	TCGA-P5-A781-01A-11D-A32B-08		1848242	247402379	1	52491											
ZAK	51776	broad.mit.edu	37	chr2	174131122	174131122	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcaggaacaaatatggaCgtggtagtatatcactcaat	16	9	10	6	1	2	0	2	0	0	0	2	3	2	2	0	3	2	3	0	3	8	4			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr2:174131122C>T	ENST00000375213.3	+	20	2125	c.2047C>T	c.(2047-2049)Cgt>Tgt	p.R683C	MLTK_ENST00000409176.2_Missense_Mutation_p.R683C|MLK7-AS1_ENST00000422703.1_RNA|MLK7-AS1_ENST00000423106.2_RNA	NM_016653.2	NP_057737.2																					CAAATATGGACGTGGTAGTAT	0.458													T	174131122	C	T	174131122	3	4	658	1	0	0	0	0	1	0	0	0	17614	536	19	1	2506	1	ZAK	2	174131122	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		174131122	69068251	2	52492											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	658	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	34981990	209113112	34086261	3	52493											
TRIM27	5987	broad.mit.edu	37	chr6	28887928	28887928	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagtctagctcctcaaggCgggccaggaggcgatactca	10	6	12	13	2	3	0	2	0	1	0	4	2	4	1	3	4	2	1	3	4	4	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:28887928C>T	ENST00000377199.3	-	3	964	c.608G>A	c.(607-609)cGc>cAc	p.R203H	TRIM27_ENST00000377194.3_Missense_Mutation_p.R203H|TRIM27_ENST00000498117.1_5'UTR	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	203					cell proliferation|negative regulation of gene expression, epigenetic|negative regulation of transcription from RNA polymerase II promoter|protein trimerization|spermatogenesis|transcription, DNA-dependent	cytoplasm|integral to plasma membrane|membrane fraction|nuclear membrane|PML body	DNA binding|protein binding|transmembrane receptor protein tyrosine kinase activity|zinc ion binding			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						CTCCTCAAGGCGGGCCAGGAG	0.517			T	RET	papillary thyroid								T	28887928	C	T	28887928	3	4	658	1	0	0	0	0	1	0	0	0	16602	768	27	1	957	1	TRIM27	6	28887928	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		28887928	142227139	4	52494											
ZBTB9	221504	broad.mit.edu	37	chr6	33423522	33423522	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attcaggtggaagaagaagaGgaggaggaggaagatgatga	17	5	18	1	0	1	6	1	2	0	4	1	11	1	11	0	6	0	0	0	6	4	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr6:33423522G>A	ENST00000395064.2	+	2	913	c.645G>A	c.(643-645)gaG>gaA	p.E215E		NM_152735.3	NP_689948.1	Q96C00	ZBTB9_HUMAN	zinc finger and BTB domain containing 9	215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|skin(1)|upper_aerodigestive_tract(2)	11						aagaagaagaggaggaggagg	0.552													A	33423522	G	A	33423522	2	1	658	1	0	0	0	0	0	0	0	1	17659	991	35	2		2	ZBTB9	6	33423522	Silent	SNP	G	TCGA-P5-A781-01A-11D-A32B-08	4535594	33423522	137691545	5	52495											
SGCZ	137868	broad.mit.edu	37	chr8	13959903	13959903	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctccccttctgtagattgCagatggagctccttcctgca	7	12	8	14	0	1	2	0	0	1	2	4	3	4	3	5	1	3	4	5	1	1	4			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:13959903C>T	ENST00000382080.1	-	7	1441	c.726G>A	c.(724-726)ctG>ctA	p.L242L	SGCZ_ENST00000421524.2_Silent_p.L195L	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	229					cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		CTGTAGATTGCAGATGGAGCT	0.507													T	13959903	C	T	13959903	2	4	658	1	0	0	0	0	0	0	0	1	14297	697	25	2		2	SGCZ	8	13959903	Silent	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		13959903	132404119	6	52496											
SLC30A8	169026	broad.mit.edu	37	chr8	118183316	118183316	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtggtgtgaaagagcttatTttagcagtcgacggggtgct	9	12	15	5	2	0	2	0	1	0	1	1	3	0	2	0	3	3	3	0	3	3	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:118183316T>A	ENST00000427715.2	+	10	1160	c.726T>A	c.(724-726)atT>atA	p.I242I	SLC30A8_ENST00000456015.2_Silent_p.I291I|SLC30A8_ENST00000521243.1_Silent_p.I242I|SLC30A8_ENST00000519688.1_Silent_p.I242I	NM_001172813.1|NM_001172815.1	NP_001166284.1|NP_001166286.1	Q8IWU4	ZNT8_HUMAN	solute carrier family 30 (zinc transporter), member 8	291					insulin secretion|positive regulation of insulin secretion|regulation of sequestering of zinc ion|regulation of vesicle-mediated transport|response to glucose stimulus|sequestering of zinc ion	integral to membrane|plasma membrane|secretory granule membrane|transport vesicle membrane	protein homodimerization activity|zinc ion transmembrane transporter activity			breast(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(18)|ovary(2)|pancreas(2)|skin(5)	41	all_cancers(13;2.11e-22)|Lung NSC(37;6.08e-05)|Ovarian(258;0.0173)		STAD - Stomach adenocarcinoma(47;0.203)			AAGAGCTTATTTTAGCAGTCG	0.453													A	118183316	T	A	118183316	2	1	658	1	0	0	0	0	0	0	0	1	14655	1829	64	5		5	SLC30A8	8	118183316	Silent	SNP	T	TCGA-P5-A781-01A-11D-A32B-08	104223413	118183316	28180706	7	52497											
DENND3	22898	broad.mit.edu	37	chr8	142185447	142185447	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgtaagttgtccagctcCgtcaagacaaacctaggcgt	10	10	11	10	2	1	1	1	0	0	1	3	1	3	1	3	1	2	3	3	1	4	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr8:142185447C>T	ENST00000519811.1	+	14	2494	c.2424C>T	c.(2422-2424)tcC>tcT	p.S808S	DENND3_ENST00000262585.2_Silent_p.S728S|DENND3_ENST00000424248.1_Silent_p.S676S			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	728										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGTCCAGCTCCGTCAAGACAA	0.547											OREG0019025	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	142185447	C	T	142185447	2	4	658	1	0	0	0	0	0	0	0	1	4471	639	23	1		1	DENND3	8	142185447	Silent	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	24002131	142185447	4178575	8	52498											
SLK	9748	broad.mit.edu	37	chr10	105762041	105762041	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtctcagaaaaaacagaaCgtagtaactctgaagataaa	19	8	7	7	1	2	4	1	1	2	3	3	4	2	4	0	0	3	2	0	0	9	3	rs140715399		TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr10:105762041C>T	ENST00000369755.3	+	9	1650	c.1105C>T	c.(1105-1107)Cgt>Tgt	p.R369C	SLK_ENST00000335753.4_Missense_Mutation_p.R369C	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	369	Glu-rich.				apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAAACAGAACGTAGTAACTC	0.368													T	105762041	C	T	105762041	3	4	658	1	0	0	0	0	1	0	0	0	14842	536	19	1	1139	1	SLK	10	105762041	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		105762041	29772706	9	52499											
BBOX1	8424	broad.mit.edu	37	chr11	27077073	27077073	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagtctctctacccagctgtAtggttgagagacaactgtcc	9	11	10	11	0	2	2	0	1	2	1	4	4	3	2	2	1	3	3	2	1	3	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:27077073A>G	ENST00000263182.3	+	3	464	c.96A>G	c.(94-96)gtA>gtG	p.V32V	BBOX1_ENST00000527505.1_3'UTR|RP11-1L12.3_ENST00000526061.1_RNA|BBOX1_ENST00000529202.1_Silent_p.V32V|BBOX1_ENST00000528583.1_Silent_p.V32V|BBOX1_ENST00000525090.1_Silent_p.V32V	NM_003986.2	NP_003977.1	O75936	BODG_HUMAN	butyrobetaine (gamma), 2-oxoglutarate dioxygenase (gamma-butyrobetaine hydroxylase) 1	32					carnitine biosynthetic process	actin cytoskeleton|cytosol|intracellular membrane-bounded organelle	gamma-butyrobetaine dioxygenase activity|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			breast(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	23					Succinic acid(DB00139)|Vitamin C(DB00126)	ACCCAGCTGTATGGTTGAGAG	0.468													G	27077073	A	G	27077073	2	3	658	1	0	0	0	0	0	0	0	1	1339	436	16	3		3	BBOX1	11	27077073	Silent	SNP	A	TCGA-P5-A781-01A-11D-A32B-08		27077073	107929443	10	52500											
EHD1	10938	broad.mit.edu	37	chr11	64622163	64622163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgaacggcccgttcatggtgCcgtcaaaggcgccgcccttg	6	7	13	15	6	2	0	2	0	0	0	2	1	2	0	4	3	2	1	4	3	2	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:64622163C>T	ENST00000320631.3	-	5	1501	c.1247G>A	c.(1246-1248)gGc>gAc	p.G416D	EHD1_ENST00000359393.2_Missense_Mutation_p.G416D|EHD1_ENST00000488711.1_5'UTR	NM_001282445.1|NM_006795.2	NP_001269374.1|NP_006786.2	Q9H4M9	EHD1_HUMAN	EH-domain containing 1	416					blood coagulation|cholesterol homeostasis|endocytic recycling|intracellular protein transport|low-density lipoprotein particle clearance|positive regulation of cholesterol storage|protein homooligomerization	early endosome membrane|lipid particle|plasma membrane|platelet dense tubular network membrane|recycling endosome membrane	ATP binding|calcium ion binding|GTP binding|GTPase activity|protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	12						GTTCATGGTGCCGTCAAAGGC	0.672													T	64622163	C	T	64622163	3	4	658	1	0	0	0	0	1	0	0	0	5016	739	26	2	361	2	EHD1	11	64622163	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	37545090	64622163	70384353	11	52501											
SHANK2	22941	broad.mit.edu	37	chr11	70507799	70507799	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcactgtagagagaattcCggggacagcgaccattattg	12	9	12	8	2	1	2	1	0	0	2	2	5	2	3	2	2	1	1	2	2	3	4			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:70507799C>T	ENST00000449833.2	-	1	124	c.74G>A	c.(73-75)cGg>cAg	p.R25Q	SHANK2_ENST00000423696.2_Intron|SHANK2_ENST00000409161.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000449116.2_Missense_Mutation_p.R25Q|SHANK2_ENST00000409530.1_Missense_Mutation_p.R24Q|SHANK2_ENST00000338508.4_Intron|SHANK2_ENST00000357171.3_Missense_Mutation_p.R25Q	NM_133266.3	NP_573573.2	Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	0					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GAGAGAATTCCGGGGACAGCG	0.542													T	70507799	C	T	70507799	3	4	658	1	0	0	0	0	1	0	0	0	14359	652	23	1	3755	1	SHANK2	11	70507799	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	5885636	70507799	64498717	12	52502											
GAB2	9846	broad.mit.edu	37	chr11	77937662	77937662	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggcttgggggggcggggTgggggagctatggctgagtc	3	9	23	6	1	0	1	0	1	0	0	1	2	0	2	0	9	1	3	0	9	1	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr11:77937662T>G	ENST00000361507.4	-	4	1141	c.1056A>C	c.(1054-1056)ccA>ccC	p.P352P	GAB2_ENST00000340149.2_Silent_p.P314P	NM_080491.2	NP_536739.1	Q9UQC2	GAB2_HUMAN	GRB2-associated binding protein 2	352					osteoclast differentiation|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mast cell degranulation	cytosol|plasma membrane	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|transmembrane receptor protein tyrosine kinase adaptor activity		INTS4/GAB2(2)	NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(14;3.31e-18)|all_epithelial(13;5.3e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.58e-23)			GGGGGCGGGGTGGGGGAGCTA	0.582													G	77937662	T	G	77937662	2	3	658	1	0	0	0	0	0	0	0	1	6201	1683	59	5		5	GAB2	11	77937662	Silent	SNP	T	TCGA-P5-A781-01A-11D-A32B-08	7429863	77937662	57068854	13	52503											
MLLT6	4302	broad.mit.edu	37	chr17	36871961	36871961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggaaaaagtcttccagcCatagcctgagtcataaaggg	14	7	12	8	0	2	1	1	1	1	0	3	2	3	2	3	3	2	0	3	3	5	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:36871961C>T	ENST00000325718.7	+	9	1007	c.916C>T	c.(916-918)Cat>Tat	p.H306Y	CTB-58E17.9_ENST00000579499.1_RNA	NM_005937.3	NP_005928	P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	306					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					GTCTTCCAGCCATAGCCTGAG	0.562			T	MLL	AL								T	36871961	C	T	36871961	3	4	658	1	0	0	0	0	1	0	0	0	9705	594	21	2	950	2	MLLT6	17	36871961	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		36871961	44323249	14	52504											
FOXK2	3607	broad.mit.edu	37	chr17	80541951	80541951	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcactctagtggcgcccagaCccctgagagcctgtcgaggg	7	7	13	14	2	2	2	1	1	1	2	3	4	2	2	4	2	1	0	4	2	1	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr17:80541951C>G	ENST00000335255.5	+	6	1340	c.1166C>G	c.(1165-1167)aCc>aGc	p.T389S		NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	389					embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			GGCGCCCAGACCCCTGAGAGC	0.632													G	80541951	C	G	80541951	3	3	658	1	0	0	0	0	1	0	0	0	6066	507	18	4	1188	4	FOXK2	17	80541951	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08	43669990	80541951	653259	15	52505											
RIN2	54453	broad.mit.edu	37	chr20	19955639	19955639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atagtctccacacaagccctCggctggccaggactgaaacc	11	6	9	15	1	1	1	0	1	1	0	3	2	1	2	4	3	2	1	4	3	3	1			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr20:19955639C>T	ENST00000255006.6	+	8	1266	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W	RIN2_ENST00000484638.1_3'UTR|RIN2_ENST00000440354.2_Intron	NM_001242581.1|NM_018993.3	NP_001229510.1|NP_061866.1	Q8WYP3	RIN2_HUMAN	Ras and Rab interactor 2	324					endocytosis|small GTPase mediated signal transduction	cytoplasm	GTPase activator activity|Rab guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	27						CACAAGCCCTCGGCTGGCCAG	0.602													T	19955639	C	T	19955639	3	4	658	1	0	0	0	0	1	0	0	0	13463	875	31	1	996	1	RIN2	20	19955639	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		19955639	43069881	16	52506											
TRMT2A	27037	broad.mit.edu	37	chr22	20104015	20104015	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggccccggccctgtagccgCcccagcgccctctttctcca	4	7	9	21	3	2	0	0	0	2	0	3	0	2	0	8	2	2	1	8	2	1	2			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chr22:20104015C>A	ENST00000252136.7	-	2	533	c.145G>T	c.(145-147)Gcg>Tcg	p.A49S	RANBP1_ENST00000430524.1_Intron|TRMT2A_ENST00000403707.3_Missense_Mutation_p.A49S|TRMT2A_ENST00000439169.2_Missense_Mutation_p.A49S|TRMT2A_ENST00000404751.3_Missense_Mutation_p.A49S	NM_001257994.1|NM_022727.5|NM_182984.4	NP_001244923.1|NP_073564.3|NP_892029.2	Q8IZ69	TRM2A_HUMAN	tRNA methyltransferase 2 homolog A (S. cerevisiae)	49					RNA processing		nucleotide binding|RNA binding|RNA methyltransferase activity			breast(2)|endometrium(2)|lung(5)	9						CCTGTAGCCGCCCCAGCGCCC	0.647													A	20104015	C	A	20104015	3	1	658	1	0	0	0	0	1	0	0	0	16666	739	26	4	1776	4	TRMT2A	22	20104015	Missense_Mutation	SNP	C	TCGA-P5-A781-01A-11D-A32B-08		20104015	31200551	17	52507											
ACOT9	23597	broad.mit.edu	37	chrX	23723894	23723894	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aattataatacctgagggtgGcaaatttccaaactcttcag	14	12	7	8	0	2	1	1	1	1	0	3	1	3	1	2	2	2	1	2	2	6	5			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:23723894G>A	ENST00000379303.5	-	12	1052	c.924C>T	c.(922-924)tgC>tgT	p.C308C	ACOT9_ENST00000336430.7_Silent_p.C299C|ACOT9_ENST00000379295.1_Silent_p.C239C	NM_001037171.1	NP_001032248.1	Q9Y305	ACOT9_HUMAN	acyl-CoA thioesterase 9	299					acyl-CoA metabolic process	mitochondrion	acetyl-CoA hydrolase activity|carboxylesterase activity			breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(4)|pancreas(1)|skin(1)	15						CCTGAGGGTGGCAAATTTCCA	0.373													A	23723894	G	A	23723894	2	1	658	1	0	0	0	0	0	0	0	1	157	1195	42	2		2	ACOT9	23	23723894	Silent	SNP	G	TCGA-P5-A781-01A-11D-A32B-08		23723894	131546666	18	52508											
HUWE1	10075	broad.mit.edu	37	chrX	53576145	53576145	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gactccatcttgtgtagcagGtccaggggacggttctcatg	7	11	13	10	1	2	0	1	0	2	0	5	2	4	1	2	4	1	3	2	4	1	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:53576145G>T	ENST00000342160.3	-	66	10267	c.9810C>A	c.(9808-9810)gaC>gaA	p.D3270E	HUWE1_ENST00000262854.6_Missense_Mutation_p.D3270E			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	3270					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						TGTGTAGCAGGTCCAGGGGAC	0.493													T	53576145	G	T	53576145	3	4	658	1	0	0	0	0	1	0	0	0	7519	1252	44	4	3386	4	HUWE1	23	53576145	Missense_Mutation	SNP	G	TCGA-P5-A781-01A-11D-A32B-08	29852251	53576145	101694415	19	52509											
DACH2	117154	broad.mit.edu	37	chrX	85906101	85906101	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaagcttatggctatgAacactcttcagggaaatgga	14	10	11	6	0	2	3	1	2	1	1	2	5	2	5	0	3	2	2	0	3	5	3			TCGA-P5-A781-01A-11D-A32B-08	TCGA-P5-A781-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31b4159e-4e59-46bc-a18f-5f2790e533bf	b6938bbf-14a5-4137-952c-1874ee5e3c1c	g.chrX:85906101A>G	ENST00000373131.1	+	3	827	c.664A>G	c.(664-666)Aac>Gac	p.N222D	DACH2_ENST00000508860.1_Missense_Mutation_p.N68D|DACH2_ENST00000373125.4_Missense_Mutation_p.N235D|DACH2_ENST00000510272.1_Missense_Mutation_p.N16D	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	235					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						TATGGCTATGAACACTCTTCA	0.408													G	85906101	A	G	85906101	3	3	658	1	0	0	0	0	1	0	0	0	4255	246	9	3	717	3	DACH2	23	85906101	Missense_Mutation	SNP	A	TCGA-P5-A781-01A-11D-A32B-08	32329956	85906101	69364459	20	52510											
CD1A	909	broad.mit.edu	37	chr1	158226067	158226067	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaaggcacatctccagcGgcaaggtcagtcctgcactc	11	6	11	13	1	2	0	1	0	1	0	5	1	3	1	2	4	2	3	2	4	2	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:158226067G>A	ENST00000289429.5	+	3	1132	c.599G>A	c.(598-600)cGg>cAg	p.R200Q		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	200	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	CATCTCCAGCGGCAAGGTCAG	0.463													A	158226067	G	A	158226067	3	1	659	1	0	0	0	0	1	0	0	0	3004	1116	39	1	609	1	CD1A	1	158226067	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		158226067	91024554	1	52511											
LGR6	59352	broad.mit.edu	37	chr1	202288165	202288165	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagccaggggcccccaggCtggagggcagccattgtgta	8	5	16	12	0	0	0	0	0	0	0	0	1	0	1	4	5	3	4	4	5	1	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:202288165C>T	ENST00000367278.3	+	18	2823	c.2734C>T	c.(2734-2736)Ctg>Ttg	p.L912L	LGR6_ENST00000439764.2_Silent_p.L773L|LGR6_ENST00000255432.7_Silent_p.L860L	NM_001017403.1	NP_001017403.1	Q9HBX8	LGR6_HUMAN	leucine-rich repeat containing G protein-coupled receptor 6	912						integral to membrane|plasma membrane	protein-hormone receptor activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|pancreas(1)|prostate(3)|skin(3)	36						GGCCCCCAGGCTGGAGGGCAG	0.627													T	202288165	C	T	202288165	2	4	659	1	0	0	0	0	0	0	0	1	8818	796	28	2		2	LGR6	1	202288165	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	44062098	202288165	46962456	2	52512											
OBSCN	84033	broad.mit.edu	37	chr1	228437883	228437883	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatgccaggcggacacCggggagtatagctgcgaggc	9	4	17	11	3	0	0	0	0	0	0	0	3	0	2	2	6	3	3	2	6	2	2	rs35326243		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr1:228437883C>T	ENST00000570156.2	+	15	4601	c.4527C>T	c.(4525-4527)acC>acT	p.T1509T	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Silent_p.T1417T|OBSCN_ENST00000284548.11_Silent_p.T1417T|OBSCN_ENST00000366709.4_5'UTR	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	487	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				AGGCGGACACCGGGGAGTATA	0.642													T	228437883	C	T	228437883	2	4	659	1	0	0	0	0	0	0	0	1	10888	639	23	1		1	OBSCN	1	228437883	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	26149718	228437883	20812738	3	52513											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	659	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		209113112	34086261	4	52514											
COL7A1	1294	broad.mit.edu	37	chr3	48611977	48611977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccggtctcctttgatgcctgGcacaccctgaaggcagagtg	7	9	12	13	1	1	3	0	2	1	1	2	3	1	3	4	3	1	2	4	3	1	1	rs148638156		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:48611977G>A	ENST00000328333.8	-	78	6507	c.6400C>T	c.(6400-6402)Cca>Tca	p.P2134S	COL7A1_ENST00000454817.1_Missense_Mutation_p.P2102S	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2134	Triple-helical region.				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		TTGATGCCTGGCACACCCTGA	0.632													A	48611977	G	A	48611977	3	1	659	1	0	0	0	0	1	0	0	0	3735	1203	42	2	2598	2	COL7A1	3	48611977	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		48611977	149410453	5	52515											
USP4	7375	broad.mit.edu	37	chr3	49323550	49323550	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgagtttaagtagtttTccatcagctgcaagtgaatt	11	15	9	6	0	1	2	1	2	0	0	2	2	2	2	1	0	2	6	1	0	4	7			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:49323550T>A	ENST00000351842.4	-	15	2048	c.2040A>T	c.(2038-2040)ggA>ggT	p.G680G	USP4_ENST00000265560.4_Silent_p.G727G	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	727					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		TAAGTAGTTTTCCATCAGCTG	0.413													A	49323550	T	A	49323550	2	1	659	1	0	0	0	0	0	0	0	1	17173	1770	62	5		5	USP4	3	49323550	Silent	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08	711573	49323550	148698880	6	52516											
ZBED2	79413	broad.mit.edu	37	chr3	111312789	111312789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgttgaccccagggccaCggctcacctgcctgccacac	7	5	9	20	2	1	1	1	1	0	0	1	1	1	1	7	2	2	2	7	2	0	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:111312789C>T	ENST00000317012.4	-	2	1268	c.260G>A	c.(259-261)cGt>cAt	p.R87H	CD96_ENST00000438817.2_Intron|CD96_ENST00000283285.5_Intron|CD96_ENST00000352690.4_Intron	NM_024508.4	NP_078784.2	Q9BTP6	ZBED2_HUMAN	zinc finger, BED-type containing 2	87							DNA binding|metal ion binding			large_intestine(3)|lung(1)|skin(2)	6						CCCAGGGCCACGGCTCACCTG	0.602													T	111312789	C	T	111312789	3	4	659	1	0	0	0	0	1	0	0	0	17620	536	19	1	400	1	ZBED2	3	111312789	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	61989239	111312789	86709641	7	52517											
ZBTB20	26137	broad.mit.edu	37	chr3	114058216	114058216	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtcaccatgtgcttgataAggtaatcctttaaggagaag	12	12	11	6	0	1	2	1	1	0	1	2	3	2	2	2	2	1	2	2	2	4	5			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr3:114058216A>T	ENST00000462705.1	-	12	2464	c.1643T>A	c.(1642-1644)cTt>cAt	p.L548H	ZBTB20_ENST00000393785.2_Missense_Mutation_p.L548H|ZBTB20_ENST00000474710.1_Missense_Mutation_p.L621H|ZBTB20_ENST00000481632.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000471418.1_Missense_Mutation_p.L548H|ZBTB20_ENST00000357258.3_Missense_Mutation_p.L548H|ZBTB20_ENST00000464560.1_Missense_Mutation_p.L548H	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	621					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTGCTTGATAAGGTAATCCTT	0.522													T	114058216	A	T	114058216	3	4	659	1	0	0	0	0	1	0	0	0	17630	72	3	5	367	5	ZBTB20	3	114058216	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	2745427	114058216	83964214	8	52518											
TLR1	7096	broad.mit.edu	37	chr4	38800242	38800242	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaattatcaaaatcctcaGttttgacagtgataagatgt	16	13	7	5	0	2	4	2	2	0	2	3	4	3	4	1	0	0	1	1	0	5	4			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:38800242G>T	ENST00000308979.2	-	4	484	c.211C>A	c.(211-213)Ctg>Atg	p.L71M	TLR1_ENST00000502213.2_Missense_Mutation_p.L71M	NM_003263.3	NP_003254.2	Q15399	TLR1_HUMAN	toll-like receptor 1	71					cellular response to triacyl bacterial lipopeptide|detection of triacyl bacterial lipopeptide|inflammatory response|innate immune response|macrophage activation|positive regulation of interleukin-6 biosynthetic process|positive regulation of tumor necrosis factor biosynthetic process	integral to plasma membrane|phagocytic vesicle membrane|Toll-like receptor 1-Toll-like receptor 2 protein complex	protein heterodimerization activity|transmembrane receptor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(2)	28						AAAATCCTCAGTTTTGACAGT	0.333													T	38800242	G	T	38800242	3	4	659	1	0	0	0	0	1	0	0	0	16049	1020	36	4	2153	4	TLR1	4	38800242	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		38800242	152354034	9	52519											
ANKRD17	26057	broad.mit.edu	37	chr4	73944453	73944453	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagatggagctgacgttccAgtttgcctgatacgtgcaga	10	10	12	9	2	0	4	0	2	0	2	1	5	1	5	2	1	4	4	2	1	1	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:73944453A>C	ENST00000358602.4	-	31	7430	c.7314T>G	c.(7312-7314)acT>acG	p.T2438T	ANKRD17_ENST00000330838.6_Silent_p.T2187T|ANKRD17_ENST00000509867.2_Silent_p.T2325T	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2438					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			CTGACGTTCCAGTTTGCCTGA	0.483													C	73944453	A	C	73944453	2	2	659	1	0	0	0	0	0	0	0	1	646	175	7	5		5	ANKRD17	4	73944453	Silent	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	35144211	73944453	117209823	10	52520											
LRBA	987	broad.mit.edu	37	chr4	151271293	151271293	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgaagctggcaggaaaCaaattcactctccagggcct	11	9	11	10	0	2	1	1	1	1	0	3	2	2	2	2	4	2	2	2	4	3	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr4:151271293C>A	ENST00000535741.1	-	48	7686	c.7213G>T	c.(7213-7215)Gtt>Ttt	p.V2405F	LRBA_ENST00000357115.3_Missense_Mutation_p.V2416F|LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.V2405F|LRBA_ENST00000507224.1_Missense_Mutation_p.V2405F			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2416	BEACH.					endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					TGGCAGGAAACAAATTCACTC	0.378													A	151271293	C	A	151271293	3	1	659	1	0	0	0	0	1	0	0	0	9001	478	17	4	1385	4	LRBA	4	151271293	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	77326840	151271293	39882983	11	52521											
DNAJC21	134218	broad.mit.edu	37	chr5	34937583	34937583	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcgggacaaagcaaggaaAgagaagaatgagcttgtccg	16	6	13	6	2	0	3	0	1	0	2	2	6	1	5	1	2	2	2	1	2	5	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:34937583A>C	ENST00000382021.2	+	5	818	c.591A>C	c.(589-591)aaA>aaC	p.K197N	DNAJC21_ENST00000342382.4_Missense_Mutation_p.K197N|DNAJC21_ENST00000303525.7_Missense_Mutation_p.K197N	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	197					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			AAGCAAGGAAAGAGAAGAATG	0.428													C	34937583	A	C	34937583	3	2	659	1	0	0	0	0	1	0	0	0	4679	69	3	5	609	5	DNAJC21	5	34937583	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08		34937583	145977677	12	52522											
SLCO4C1	353189	broad.mit.edu	37	chr5	101593012	101593012	+	Frame_Shift_Del	DEL	C	C	-																															agctccaggaattaaaacagCccctaataagaaaaaagaat																								rs144337691		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr5:101593012delC	ENST00000310954.6	-	8	1562	c.1276delG	c.(1276-1278)gctfs	p.A426fs		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	426					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		ATTAAAACAGCCCCTAATAAG	0.348													-	101593012	C	-	101593012	7	5	659	1	0	1	0	1	0	0	0	0	14824	739	26	0	922	0	SLCO4C1	5	101593012	Frame_Shift_Del	DEL	C	TCGA-QH-A65R-01A-21D-A31L-08	66655429	101593012	79322248	13	52523											
FAM50B	26240	broad.mit.edu	37	chr6	3850195	3850195	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggtggacaagaggttctcGgcgcattacgacgccgtgga	9	7	15	10	5	1	1	0	0	1	1	2	4	1	3	1	5	1	2	1	5	2	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:3850195G>T	ENST00000380274.1	+	1	576	c.150G>T	c.(148-150)tcG>tcT	p.S50S	FAM50B_ENST00000380272.3_Silent_p.S50S			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	50						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGAGGTTCTCGGCGCATTACG	0.642													T	3850195	G	T	3850195	2	4	659	1	0	0	0	0	0	0	0	1	5629	1103	39	4		4	FAM50B	6	3850195	Silent	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		3850195	167264872	14	52524											
MICAL1	64780	broad.mit.edu	37	chr6	109765438	109765438	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagctcgctgagcctgcGctcctcctggaagcggatga	6	7	14	14	3	0	2	0	2	0	0	3	4	2	4	4	3	4	3	4	3	1	0			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr6:109765438G>A	ENST00000368952.4	-	25	3507	c.3217C>T	c.(3217-3219)Cgc>Tgc	p.R1073C	MICAL1_ENST00000358577.3_Missense_Mutation_p.R968C|MICAL1_ENST00000358807.3_Missense_Mutation_p.R1054C			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	1054					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		CTGAGCCTGCGCTCCTCCTGG	0.617													A	109765438	G	A	109765438	3	1	659	1	0	0	0	0	1	0	0	0	9644	1087	38	1	47	1	MICAL1	6	109765438	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	105915243	109765438	61349629	15	52525											
PTDSS1	9791	broad.mit.edu	37	chr8	97321825	97321825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgacacacagtgcaagcgcGtaggaacacaatgctgggtg	12	5	13	11	3	0	0	0	0	0	0	0	2	0	1	1	2	4	3	1	2	4	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:97321825G>A	ENST00000517309.1	+	9	1374	c.1048G>A	c.(1048-1050)Gta>Ata	p.V350I	PTDSS1_ENST00000455950.2_Missense_Mutation_p.V204I|PTDSS1_ENST00000522072.1_Missense_Mutation_p.V147I	NM_014754.1	NP_055569.1	P48651	PTSS1_HUMAN	phosphatidylserine synthase 1	350					phosphatidylserine biosynthetic process	integral to membrane	transferase activity			endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|stomach(1)	29	Breast(36;6.18e-05)				Phosphatidylserine(DB00144)	GTGCAAGCGCGTAGGAACACA	0.433													A	97321825	G	A	97321825	3	1	659	1	0	0	0	0	1	0	0	0	12821	1145	40	1	1082	1	PTDSS1	8	97321825	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		97321825	49042197	16	52526											
OC90	729330	broad.mit.edu	37	chr8	133053772	133053772	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctgtggaactcacttacCtgtcagattcatccacaggc	10	10	7	14	0	3	1	3	0	0	1	4	2	4	2	3	2	2	0	3	2	2	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:133053772C>T	ENST00000262283.5	-	8	1031	c.932G>A	c.(931-933)aGc>aAc	p.S311N	OC90_ENST00000603859.1_Splice_Site_p.S115N|OC90_ENST00000443356.2_Splice_Site_p.S115N|OC90_ENST00000254627.3_Splice_Site_p.S115N			Q02509	OC90_HUMAN	otoconin 90	115					lipid catabolic process|phospholipid metabolic process		calcium ion binding|phospholipase A2 activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(23)|ovary(2)|prostate(1)|skin(1)	37	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)			ACTCACTTACCTGTCAGATTC	0.512													T	133053772	C	T	133053772	5	4	659	1	0	0	0	0	0	0	1	0	10890	695	24	2	1129	2	OC90	8	133053772	Splice_Site	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	35731947	133053772	13310250	17	52527											
EPPK1	83481	broad.mit.edu	37	chr8	144942068	144942068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcagcaaacctccccacgCgcatttttgcagttctggat	8	11	9	13	2	2	0	1	0	1	0	3	1	3	1	3	2	3	4	3	2	1	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr8:144942068C>T	ENST00000525985.1	-	2	5425	c.5354G>A	c.(5353-5355)cGc>cAc	p.R1785H				P58107	EPIPL_HUMAN	epiplakin 1	1785						cytoplasm|cytoskeleton	protein binding|structural molecule activity	p.R1785H(1)		NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CCTCCCCACGCGCATTTTTGC	0.512													T	144942068	C	T	144942068	3	4	659	1	0	0	0	0	1	0	0	0	5231	768	27	1	1912	1	EPPK1	8	144942068	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	11888296	144942068	1421954	18	52528											
ALG2	85365	broad.mit.edu	37	chr9	101983309	101983309	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaccaatggggagccatgTacaagttttaataggggcat	15	9	11	6	0	0	0	0	0	0	0	0	1	0	1	2	4	3	3	2	4	7	4			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:101983309T>G	ENST00000319033.6	-	1	20	c.21A>C	c.(19-21)gtA>gtC	p.V7V	ALG2_ENST00000476832.1_Intron			Q9H553	ALG2_HUMAN	ALG2, alpha-1,3/1,6-mannosyltransferase	0					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in endoplasmic reticulum|protein N-linked glycosylation via asparagine|response to calcium ion	endoplasmic reticulum membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	alpha-1,3-mannosyltransferase activity|calcium-dependent protein binding|glycolipid 3-alpha-mannosyltransferase activity|protein anchor|protein heterodimerization activity|protein N-terminus binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(11)|ovary(2)|prostate(2)	22		Acute lymphoblastic leukemia(62;0.0559)				GGGAGCCATGTACAAGTTTTA	0.448													G	101983309	T	G	101983309	2	3	659	1	0	0	0	0	0	0	0	1	519	1653	57	5		5	ALG2	9	101983309	Silent	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		101983309	39230122	19	52529											
DFNB31	25861	broad.mit.edu	37	chr9	117266884	117266884	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgaagacgttgcggcgcgcGtggtaagcgttcaggcagtg	7	8	17	9	7	1	1	1	0	0	1	2	2	1	1	0	3	2	4	0	3	2	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:117266884G>A	ENST00000362057.3	-	1	366	c.198C>T	c.(196-198)caC>caT	p.H66H	DFNB31_ENST00000374057.3_Silent_p.H66H	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	66					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCGGCGCGCGTGGTAAGCGT	0.677													A	117266884	G	A	117266884	2	1	659	1	0	0	0	0	0	0	0	1	4494	1136	40	1		1	DFNB31	9	117266884	Silent	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	15283575	117266884	23946547	20	52530											
GAPVD1	26130	broad.mit.edu	37	chr9	128109218	128109218	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatggcaaactatgaaagtaCaggtgataatcatgacagag	18	8	10	5	0	1	4	1	3	0	1	1	4	1	4	0	2	2	2	0	2	6	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr9:128109218C>G	ENST00000470056.1	+	17	3246	c.3086C>G	c.(3085-3087)aCa>aGa	p.T1029R	GAPVD1_ENST00000495955.1_Missense_Mutation_p.T1056R|GAPVD1_ENST00000265956.4_Missense_Mutation_p.T1030R|GAPVD1_ENST00000394104.2_Missense_Mutation_p.T1056R|GAPVD1_ENST00000394083.2_Missense_Mutation_p.T1008R|GAPVD1_ENST00000394105.2_Missense_Mutation_p.T1083R|GAPVD1_ENST00000297933.6_Missense_Mutation_p.T1056R|GAPVD1_ENST00000312123.9_Missense_Mutation_p.T1035R			Q14C86	GAPD1_HUMAN	GTPase activating protein and VPS9 domains 1	1056					endocytosis|regulation of protein transport|regulation of small GTPase mediated signal transduction|signal transduction	cytosol|endosome|membrane	GTPase activating protein binding|GTPase activator activity|guanyl-nucleotide exchange factor activity			central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						TATGAAAGTACAGGTGATAAT	0.388													G	128109218	C	G	128109218	3	3	659	1	0	0	0	0	1	0	0	0	6293	478	17	4	3318	4	GAPVD1	9	128109218	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	10842334	128109218	13104213	21	52531											
NRP1	8829	broad.mit.edu	37	chr10	33481224	33481224	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatacctgtgtgatcctgaaTgggtcccgtcttgctggtca	6	13	12	10	1	2	2	1	2	1	0	4	3	4	2	3	2	2	1	3	2	2	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:33481224T>C	ENST00000265371.4	-	14	2572	c.2047A>G	c.(2047-2049)Att>Gtt	p.I683V	NRP1_ENST00000395995.1_Missense_Mutation_p.I683V|NRP1_ENST00000374875.1_Missense_Mutation_p.I495V|NRP1_ENST00000374867.2_Missense_Mutation_p.I683V			O14786	NRP1_HUMAN	neuropilin 1	683	MAM.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TGATCCTGAATGGGTCCCGTC	0.507													C	33481224	T	C	33481224	3	2	659	1	0	0	0	0	1	0	0	0	10736	1464	51	3	744	3	NRP1	10	33481224	Missense_Mutation	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		33481224	102053523	22	52532											
PRF1	5551	broad.mit.edu	37	chr10	72357828	72357828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccacacggccccactcCggtttcctggaggctccccc	5	7	8	21	2	1	0	1	0	0	0	4	1	4	1	7	4	0	2	7	4	0	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr10:72357828C>T	ENST00000441259.1	-	3	1809	c.1649G>A	c.(1648-1650)cGg>cAg	p.R550Q	PRF1_ENST00000373209.2_Missense_Mutation_p.R550Q	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	550					apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCCCACTCCGGTTTCCTGG	0.582			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				T	72357828	C	T	72357828	3	4	659	1	0	0	0	0	1	0	0	0	12564	652	23	1	22	1	PRF1	10	72357828	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	38876604	72357828	63176919	23	52533											
BTBD11	121551	broad.mit.edu	37	chr12	108004038	108004038	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccaagtttaagcaggaccTgggtttccggatgctgaact	10	10	12	9	1	0	1	0	1	0	0	1	3	1	3	3	3	4	4	3	3	3	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr12:108004038T>A	ENST00000280758.5	+	5	2243	c.1715T>A	c.(1714-1716)cTg>cAg	p.L572Q	BTBD11_ENST00000420571.2_Missense_Mutation_p.L572Q|BTBD11_ENST00000357167.4_Missense_Mutation_p.L109Q|RP11-128P10.1_ENST00000548473.1_RNA|BTBD11_ENST00000490090.2_Missense_Mutation_p.L572Q	NM_001018072.1	NP_001018082.1	A6QL63	BTBDB_HUMAN	BTB (POZ) domain containing 11	572						integral to membrane	DNA binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(18)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	53						AAGCAGGACCTGGGTTTCCGG	0.562											OREG0022090	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	108004038	T	A	108004038	3	1	659	1	0	0	0	0	1	0	0	0	1548	1580	55	5	1838	5	BTBD11	12	108004038	Missense_Mutation	SNP	T	TCGA-QH-A65R-01A-21D-A31L-08		108004038	25847857	24	52534											
FRY	10129	broad.mit.edu	37	chr13	32805370	32805371	+	Frame_Shift_Del	DEL	AA	AA	-																															acacctaaaaatcaaaattcAaagagtgctgaacagctcac																										TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr13:32805370_32805371delAA	ENST00000380250.3	+	41	5956_5957	c.5460_5461delAA	c.(5458-5463)tcaaagfs	p.K1821fs		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	1821					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		ATCAAAATTCAAAGAGTGCTGA	0.351													-	32805371	AA	-	32805370	7	5	659	1	0	1	0	1	0	0	0	0	6115	117	5	0	5622	0	FRY	13	32805370	Frame_Shift_Del	DEL	AA	TCGA-QH-A65R-01A-21D-A31L-08		32805370	82364508	25	52535											
BCL11B	64919	broad.mit.edu	37	chr14	99641314	99641314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcttcaggaaggcgccgCgcttctgcttgtcggccagg	5	8	14	14	5	2	0	1	0	1	0	3	1	2	1	2	4	1	3	2	4	1	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr14:99641314C>T	ENST00000345514.2	-	3	1912	c.1646G>A	c.(1645-1647)cGc>cAc	p.R549H	BCL11B_ENST00000443726.2_Missense_Mutation_p.R426H|BCL11B_ENST00000357195.3_Missense_Mutation_p.R620H	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	620	Glu-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GAAGGCGCCGCGCTTCTGCTT	0.751			T	TLX3	T-ALL								T	99641314	C	T	99641314	3	4	659	1	0	0	0	0	1	0	0	0	1369	768	27	1	829	1	BCL11B	14	99641314	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		99641314	7708226	26	52536											
CCNF	899	broad.mit.edu	37	chr16	2506782	2506782	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtactcctccgtcagcaccGcaagtcccacaagctccgtg	8	7	9	17	3	1	0	1	0	0	0	5	0	5	0	5	1	3	4	5	1	3	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr16:2506782G>A	ENST00000397066.4	+	17	2210	c.2122G>A	c.(2122-2124)Gca>Aca	p.A708T	RP11-715J22.4_ENST00000566085.1_lincRNA	NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	708	PEST.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				CGTCAGCACCGCAAGTCCCAC	0.662													A	2506782	G	A	2506782	3	1	659	1	0	0	0	0	1	0	0	0	2952	1087	38	1	2188	1	CCNF	16	2506782	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		2506782	87847971	27	52537											
NEURL4	84461	broad.mit.edu	37	chr17	7232363	7232363	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgcaccttgcggtcgatgCggacggtgaagacgcgtcca	7	7	15	12	6	0	2	0	1	0	1	2	4	1	3	2	3	3	2	2	3	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:7232363C>T	ENST00000399464.2	-	1	284	c.269G>A	c.(268-270)cGc>cAc	p.R90H	NEURL4_ENST00000570460.1_Missense_Mutation_p.R90H|NEURL4_ENST00000315614.7_Missense_Mutation_p.R90H	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GCGGTCGATGCGGACGGTGAA	0.667													T	7232363	C	T	7232363	3	4	659	1	0	0	0	0	1	0	0	0	10423	768	27	1	4535	1	NEURL4	17	7232363	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		7232363	73962847	28	52538											
PFAS	5198	broad.mit.edu	37	chr17	8159859	8159859	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcaatccagggaaaggAagtccgattcctacggcctg	11	7	12	11	2	0	0	0	0	0	0	3	3	3	2	4	3	2	1	4	3	4	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:8159859A>T	ENST00000545834.1	+	0	898				PFAS_ENST00000314666.6_Missense_Mutation_p.E280V			O15067	PUR4_HUMAN	phosphoribosylformylglycinamidine synthase						'de novo' IMP biosynthetic process|glutamine metabolic process|purine base metabolic process	cytosol	ATP binding|phosphoribosylformylglycinamidine synthase activity|protein binding			central_nervous_system(3)|endometrium(8)|kidney(2)|large_intestine(2)|lung(9)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	35					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	CAGGGAAAGGAAGTCCGATTC	0.582													T	8159859	A	T	8159859	1	4	659	1	0	0	0	0	0	0	0	0	11831	246	9	5		5	PFAS	17	8159859	Translation_Start_Site	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	927496	8159859	73035351	29	52539											
MYH8	4626	broad.mit.edu	37	chr17	10300223	10300223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattctggagccgctgcttcGtcttctcaagggaagcacat	8	11	10	12	2	3	0	1	0	3	0	5	2	3	2	1	2	3	3	1	2	2	3	rs150344258		TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:10300223G>A	ENST00000403437.2	-	31	4353	c.4259C>T	c.(4258-4260)aCg>aTg	p.T1420M	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1420					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CCGCTGCTTCGTCTTCTCAAG	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10300223	G	A	10300223	3	1	659	1	0	0	0	0	1	0	0	0	10117	1145	40	1	1594	1	MYH8	17	10300223	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08	2140364	10300223	70894987	30	52540											
MYO18A	399687	broad.mit.edu	37	chr17	27448160	27448160	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catcagcatcgccctgtatgCggtctgggccactgcataga	8	9	11	13	2	2	1	1	0	1	1	3	1	2	1	2	2	3	3	2	2	2	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:27448160C>T	ENST00000527372.1	-	6	1621	c.1441G>A	c.(1441-1443)Gca>Aca	p.A481T	MYO18A_ENST00000354329.4_Missense_Mutation_p.A481T|MYO18A_ENST00000531253.1_Missense_Mutation_p.A481T|MYO18A_ENST00000533112.1_Missense_Mutation_p.A481T	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	481	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCCCTGTATGCGGTCTGGGCC	0.587													T	27448160	C	T	27448160	3	4	659	1	0	0	0	0	1	0	0	0	10141	768	27	1	4871	1	MYO18A	17	27448160	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	17147937	27448160	53747050	31	52541											
KRT24	192666	broad.mit.edu	37	chr17	38859836	38859836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaagccctgggccgagctgCcccccagaccacatctgctt	7	6	11	17	1	1	1	0	0	1	1	1	3	1	2	6	2	4	2	6	2	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:38859836C>T	ENST00000264651.2	-	1	166	c.110G>A	c.(109-111)gGc>gAc	p.G37D		NM_019016.2	NP_061889.2	Q2M2I5	K1C24_HUMAN	keratin 24	37	Gly-rich.|Head.					cytoplasm|intermediate filament	structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Breast(137;0.00526)				GGCCGAGCTGCCCCCCAGACC	0.662													T	38859836	C	T	38859836	3	4	659	1	0	0	0	0	1	0	0	0	8519	739	26	2	1499	2	KRT24	17	38859836	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	11411676	38859836	42335374	32	52542											
STAT5A	6776	broad.mit.edu	37	chr17	40441527	40441527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccatcgaggtccggcactActtggcccagtggattgaga	8	8	12	13	2	0	1	0	1	0	1	2	4	1	2	4	4	1	1	4	4	1	3			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:40441527A>G	ENST00000345506.4	+	3	740	c.98A>G	c.(97-99)tAc>tGc	p.Y33C	STAT5A_ENST00000452307.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000546010.2_Missense_Mutation_p.Y33C|STAT5A_ENST00000590949.1_Missense_Mutation_p.Y33C|STAT5A_ENST00000588868.1_Missense_Mutation_p.Y33C	NM_003152.3	NP_003143.2	P42229	STA5A_HUMAN	signal transducer and activator of transcription 5A	33					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|oxaloacetate metabolic process|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	p.Y33F(1)		central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	14		all_cancers(22;1.56e-06)|all_epithelial(22;3.17e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.128)		GTCCGGCACTACTTGGCCCAG	0.652													G	40441527	A	G	40441527	3	3	659	1	0	0	0	0	1	0	0	0	15364	391	14	3	100	3	STAT5A	17	40441527	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	1581691	40441527	40753683	33	52543											
BPTF	2186	broad.mit.edu	37	chr17	65941667	65941667	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcagctcagccccagccCcaaacccagccccagtcccc	8	4	5	24	0	2	0	2	0	0	0	3	0	3	0	10	0	5	1	10	0	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:65941667C>T	ENST00000321892.4	+	23	7282	c.7221C>T	c.(7219-7221)ccC>ccT	p.P2407P	BPTF_ENST00000424123.3_Silent_p.P2268P|BPTF_ENST00000335221.5_Silent_p.P2407P|BPTF_ENST00000306378.6_Silent_p.P2281P			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	2407					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			agccccagccccaaacccagc	0.557													T	65941667	C	T	65941667	2	4	659	1	0	0	0	0	0	0	0	1	1504	610	22	2		2	BPTF	17	65941667	Silent	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	25500140	65941667	15253543	34	52544											
C17orf70	80233	broad.mit.edu	37	chr17	79514217	79514217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcttgctcgggcaggaCgtcggaggggcactcatcca	7	7	13	14	3	2	0	1	0	1	0	5	2	3	2	2	5	1	3	2	5	0	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr17:79514217C>T	ENST00000537152.1	-	5	1963	c.1438G>A	c.(1438-1440)Gtc>Atc	p.V480I	C17orf70_ENST00000425898.2_Missense_Mutation_p.V280I|C17orf70_ENST00000327787.8_Missense_Mutation_p.V631I	NM_025161.5	NP_079437.5	Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	631					DNA repair	cytoplasm|intermediate filament cytoskeleton|nucleoplasm	DNA binding			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TCGGGCAGGACGTCGGAGGGG	0.657													T	79514217	C	T	79514217	3	4	659	1	0	0	0	0	1	0	0	0	1893	536	19	1	774	1	C17orf70	17	79514217	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08	13572550	79514217	1680993	35	52545											
ATP4A	495	broad.mit.edu	37	chr19	36046221	36046221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcacaccatcccccgtgaCggccacaatcgcaccctgca	10	6	6	19	3	1	1	1	1	0	0	3	1	2	1	5	1	1	2	5	1	1	1			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chr19:36046221C>T	ENST00000262623.3	-	15	2201	c.2173G>A	c.(2173-2175)Gtc>Atc	p.V725I		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	725					ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)	TCCCCCGTGACGGCCACAATC	0.632													T	36046221	C	T	36046221	3	4	659	1	0	0	0	0	1	0	0	0	1150	536	19	1	966	1	ATP4A	19	36046221	Missense_Mutation	SNP	C	TCGA-QH-A65R-01A-21D-A31L-08		36046221	23082762	36	52546											
H2BFWT	158983	broad.mit.edu	37	chrX	103267977	103267977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacctgcttcagcacccggcGgaaataggtggcgaagctgt	10	7	13	11	3	1	0	1	0	0	0	1	2	1	1	2	4	4	3	2	4	4	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:103267977G>A	ENST00000217926.5	-	1	282	c.256C>T	c.(256-258)Cgc>Tgc	p.R86C		NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	86					nucleosome assembly	nuclear membrane|nucleosome	DNA binding			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						AGCACCCGGCGGAAATAGGTG	0.622													A	103267977	G	A	103267977	3	1	659	1	0	0	0	0	1	0	0	0	6987	1116	39	1	279	1	H2BFWT	23	103267977	Missense_Mutation	SNP	G	TCGA-QH-A65R-01A-21D-A31L-08		103267977	52002583	37	52547											
UPF3B	65109	broad.mit.edu	37	chrX	118979241	118979241	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaaaaggtgcaaattctactAtagcgggatattcctgacct	13	11	9	8	1	1	1	0	1	1	0	2	3	2	2	2	2	3	1	2	2	7	6			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:118979241A>T	ENST00000276201.2	-	4	458	c.389T>A	c.(388-390)aTa>aAa	p.I130K	UPF3B_ENST00000345865.2_Missense_Mutation_p.I130K	NM_080632.2	NP_542199.1	Q9BZI7	REN3B_HUMAN	UPF3 regulator of nonsense transcripts homolog B (yeast)	130	Necessary for interaction with UPF2.|Sufficient for association with EJC core.				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA splicing, via spliceosome|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|termination of RNA polymerase II transcription	cytosol|exon-exon junction complex|nucleoplasm	mRNA binding|nucleocytoplasmic transporter activity|nucleotide binding|protein binding			breast(3)|endometrium(4)|kidney(1)|large_intestine(7)|lung(12)|ovary(2)|prostate(1)	30						AAATTCTACTATAGCGGGATA	0.348													T	118979241	A	T	118979241	3	4	659	1	0	0	0	0	1	0	0	0	17108	449	16	5	1094	5	UPF3B	23	118979241	Missense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	15711264	118979241	36291319	38	52548											
CUL4B	8450	broad.mit.edu	37	chrX	119677596	119677599	+	Frame_Shift_Del	DEL	TAAG	TAAG	-																															acttactgggtggtctgatcTaagtaagtaataagtctgtc																										TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:119677596_119677599delTAAG	ENST00000371322.5	-	8	1300_1303	c.1239_1242delCTTA	c.(1237-1242)tacttafs	p.YL413fs	CUL4B_ENST00000404115.3_Frame_Shift_Del_p.YL431fs|CUL4B_ENST00000336592.6_Frame_Shift_Del_p.YL418fs	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	431					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGGTCTGATCTAAGTAAGTAATAA	0.343													-	119677599	TAAG	-	119677596	7	5	659	1	0	1	0	1	0	0	0	0	4091	1519	53	0	1497	0	CUL4B	23	119677596	Frame_Shift_Del	DEL	TAAG	TCGA-QH-A65R-01A-21D-A31L-08	698355	119677596	35592964	39	52549											
ZIC3	7547	broad.mit.edu	37	chrX	136651129	136651129	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacagcagcgaccgtaagAagcacatgcatgtgcatacc	14	5	9	13	2	0	1	0	0	0	1	0	2	0	1	3	0	7	5	3	0	4	2			TCGA-QH-A65R-01A-21D-A31L-08	TCGA-QH-A65R-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e039efea-ec31-482d-8c2f-8e002237230a	f8836150-9268-48d8-8991-037a21c25471	g.chrX:136651129A>T	ENST00000287538.5	+	2	1679	c.1129A>T	c.(1129-1131)Aag>Tag	p.K377*	ZIC3_ENST00000478471.1_3'UTR|ZIC3_ENST00000370606.3_Nonsense_Mutation_p.K377*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	377					cell differentiation|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					CGACCGTAAGAAGCACATGCA	0.493													T	136651129	A	T	136651129	4	4	659	1	0	0	0	0	0	1	0	0	17781	247	9	5	1135	5	ZIC3	23	136651129	Nonsense_Mutation	SNP	A	TCGA-QH-A65R-01A-21D-A31L-08	16973533	136651129	18619431	40	52550											
TMEM17	200728	broad.mit.edu	37	chr2	62729687	62729687	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcaggtaagattgaatacTaaaagaaaagccaaaacatg	21	7	8	5	0	1	3	1	1	0	2	1	3	1	3	1	1	3	1	1	1	9	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:62729687T>C	ENST00000335390.5	-	3	416		c.e3-2			NM_198276.2	NP_938017.2	Q86X19	TMM17_HUMAN	transmembrane protein 17							integral to membrane				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	9	Lung NSC(7;0.0274)|all_lung(7;0.0568)		LUSC - Lung squamous cell carcinoma(7;1.31e-05)|Epithelial(17;0.169)			GATTGAATACTAAAAGAAAAG	0.308													C	62729687	T	C	62729687	5	2	660	1	0	0	0	0	0	0	1	0	16185	1536	53	3	401	3	TMEM17	2	62729687	Splice_Site	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		62729687	180469686	1	52551											
RPIA	22934	broad.mit.edu	37	chr2	89037526	89037526	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagataatgggaattttatCttggactggaagtttgaccg	12	13	11	5	1	1	2	0	1	1	1	1	5	1	5	1	3	0	1	1	3	4	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:89037526C>T	ENST00000283646.4	+	8	826	c.771C>T	c.(769-771)atC>atT	p.I257I		NM_144563.2	NP_653164.2	P49247	RPIA_HUMAN	ribose 5-phosphate isomerase A	257					pentose-phosphate shunt, non-oxidative branch	cytosol	ribose-5-phosphate isomerase activity			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)				GGAATTTTATCTTGGACTGGA	0.433													T	89037526	C	T	89037526	2	4	660	1	0	0	0	0	0	0	0	1	13644	903	32	2		2	RPIA	2	89037526	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	26307839	89037526	154161847	2	52552											
NEB	4703	broad.mit.edu	37	chr2	152502668	152502668	+	Frame_Shift_Del	DEL	T	T	-																															cttgtgttgattaagtttgcTttagccagaacaatgtcagg																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:152502668delT	ENST00000397345.3	-	55	7714	c.7512delA	c.(7510-7512)aaafs	p.K2504fs	NEB_ENST00000409198.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000172853.10_Frame_Shift_Del_p.K2504fs|NEB_ENST00000603639.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000604864.1_Frame_Shift_Del_p.K2504fs|NEB_ENST00000427231.2_Frame_Shift_Del_p.K2504fs	NM_001164508.1	NP_001157980	P20929	NEBU_HUMAN	nebulin	2504					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TTAAGTTTGCTTTAGCCAGAA	0.328													-	152502668	T	-	152502668	7	5	660	1	0	1	0	1	0	0	0	0	10378	1606	56	0	18686	0	NEB	2	152502668	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	63465142	152502668	90696705	3	52553											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	660	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	56610444	209113112	34086261	4	52554											
ALPP	250	broad.mit.edu	37	chr2	233245025	233245025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCgccaggtgatgggggctggc	7	6	20	8	2	0	1	0	1	0	0	0	3	0	2	1	7	2	3	1	7	2	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233245025C>T	ENST00000392027.2	+	6	1056	c.787C>T	c.(787-789)Cgc>Tgc	p.R263C	AC068134.8_ENST00000441266.1_RNA|AC068134.8_ENST00000439072.1_RNA	NM_001632.3	NP_001623.3	P05187	PPB1_HUMAN	alkaline phosphatase, placental	263			R -> H (in dbSNP:rs2853378).			anchored to membrane|cell surface|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	p.R263C(1)		NS(1)|biliary_tract(1)|endometrium(1)|kidney(4)|large_intestine(2)|liver(1)|lung(10)|ovary(2)	22		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)		GCTGGCGAAGCGCCAGGTGAT	0.667													T	233245025	C	T	233245025	3	4	660	1	0	0	0	0	1	0	0	0	548	768	27	1	809	1	ALPP	2	233245025	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	24131913	233245025	9954348	5	52555											
ALPPL2	251	broad.mit.edu	37	chr2	233273106	233273106	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaggaatggctggcgaagCaccaggtgatgggggctggt	8	7	19	7	1	0	1	0	1	0	0	0	3	0	2	1	7	2	4	1	7	2	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr2:233273106C>T	ENST00000295453.3	+	6	830	c.778C>T	c.(778-780)Cac>Tac	p.H260Y		NM_031313.2	NP_112603.2	P10696	PPBN_HUMAN	alkaline phosphatase, placental-like 2	260				H -> R (in Ref. 8; AAH14139).	phosphorylation	anchored to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding			breast(2)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|skin(1)	13		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;4.45e-22)|Kidney(3;4.42e-11)|KIRC - Kidney renal clear cell carcinoma(3;1.9e-09)|BRCA - Breast invasive adenocarcinoma(100;0.000767)|Lung(119;0.00566)|LUSC - Lung squamous cell carcinoma(224;0.00746)|STAD - Stomach adenocarcinoma(3;0.0181)|GBM - Glioblastoma multiforme(43;0.196)	Amifostine(DB01143)|Levamisole(DB00848)	GCTGGCGAAGCACCAGGTGAT	0.662													T	233273106	C	T	233273106	3	4	660	1	0	0	0	0	1	0	0	0	549	710	25	2	800	2	ALPPL2	2	233273106	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	28081	233273106	9926267	6	52556											
SETMAR	6419	broad.mit.edu	37	chr3	4355172	4355172	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagttggcactttttgcagcCaaagatattgtgccagaaga	13	11	10	7	0	0	3	0	0	0	3	0	3	0	3	2	1	3	3	2	1	4	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355172C>G	ENST00000358065.4	+	2	814	c.747C>G	c.(745-747)gcC>gcG	p.A249A	SETMAR_ENST00000430981.1_Silent_p.A249A|SETMAR_ENST00000425863.1_Intron|SUMF1_ENST00000534863.1_Intron	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	236	Histone-lysine N-methyltransferase.|SET.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		TTTTTGCAGCCAAAGATATTG	0.373								Chromatin Structure					G	4355172	C	G	4355172	2	3	660	1	0	0	0	0	0	0	0	1	14233	581	21	4		4	SETMAR	3	4355172	Silent	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		4355172	193667258	7	52557											
SETMAR	6419	broad.mit.edu	37	chr3	4355408	4355409	+	Frame_Shift_Ins	INS	-	-	T																															agcatgtgtggctcagccccINSttctgtgttcccctcctgca																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:4355408_4355409insT	ENST00000358065.4	+	2	1050_1051	c.983_984insT	c.(982-987)ccttctfs	p.S329fs	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000425863.1_Frame_Shift_Ins_p.S190fs|SETMAR_ENST00000430981.1_Frame_Shift_Ins_p.S329fs	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	316	Histone-lysine N-methyltransferase.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		GGCTCAGCCCCTTCTGTGTTCC	0.515								Chromatin Structure					T	4355409	-	T	4355408	7	5	660	1	0	1	1	0	0	0	0	0	14233	681	24	0	989	0	SETMAR	3	4355408	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08	236	4355408	193667022	8	52558											
FLNB	2317	broad.mit.edu	37	chr3	58120353	58120353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtctatcaagtcccttcaagGtcaaggtccttcccacatat	10	12	6	13	0	4	0	3	0	1	0	7	0	7	0	3	2	0	0	3	2	5	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr3:58120353G>A	ENST00000357272.4	+	27	4690	c.4525G>A	c.(4525-4527)Gtc>Atc	p.V1509I	FLNB_ENST00000429972.2_Missense_Mutation_p.V1509I|FLNB_ENST00000490882.1_Missense_Mutation_p.V1540I|FLNB_ENST00000493452.1_Missense_Mutation_p.V1340I|FLNB_ENST00000348383.5_Missense_Mutation_p.V1509I|FLNB_ENST00000358537.3_Missense_Mutation_p.V1509I|FLNB_ENST00000295956.4_Missense_Mutation_p.V1509I|FLNB_ENST00000419752.2_Missense_Mutation_p.V1340I			O75369	FLNB_HUMAN	filamin B, beta	1509	Interaction with FBLP1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		TCCCTTCAAGGTCAAGGTCCT	0.488													A	58120353	G	A	58120353	3	1	660	1	0	0	0	0	1	0	0	0	5983	1261	44	2	4728	2	FLNB	3	58120353	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08	53764945	58120353	139902077	9	52559											
FGF5	2250	broad.mit.edu	37	chr4	81207567	81207567	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcaatacatagaactgaaaAaacagggcgggagtggtatg	17	6	13	5	1	0	2	0	1	0	1	0	3	0	3	0	3	4	2	0	3	8	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr4:81207567A>T	ENST00000312465.7	+	3	774	c.548A>T	c.(547-549)aAa>aTa	p.K183I	FGF5_ENST00000456523.3_3'UTR|FGF5_ENST00000503413.1_3'UTR	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5	183					cell proliferation|cell-cell signaling|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|positive regulation of cell division|positive regulation of cell proliferation	extracellular space	fibroblast growth factor receptor binding|growth factor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						AGAACTGAAAAAACAGGGCGG	0.468													T	81207567	A	T	81207567	3	4	660	1	0	0	0	0	1	0	0	0	5904	14	1	5	558	5	FGF5	4	81207567	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08		81207567	109946709	10	52560											
VCAN	1462	broad.mit.edu	37	chr5	82833311	82833311	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaacatttttcaggtggtGagcctgatgttttccccaca	9	13	9	10	0	1	3	1	2	0	1	2	3	2	3	3	2	2	1	3	2	1	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr5:82833311G>C	ENST00000265077.3	+	8	5054	c.4489G>C	c.(4489-4491)Gag>Cag	p.E1497Q	VCAN_ENST00000513016.1_3'UTR|VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000343200.5_Missense_Mutation_p.E510Q|VCAN_ENST00000342785.4_Intron|VCAN_ENST00000512590.2_Intron|VCAN_ENST00000502527.2_Intron	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	1497	GAG-beta.				cell adhesion|cell recognition|glial cell migration	extracellular space|proteinaceous extracellular matrix	calcium ion binding|hyaluronic acid binding|sugar binding			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)		TTCAGGTGGTGAGCCTGATGT	0.438													C	82833311	G	C	82833311	3	2	660	1	0	0	0	0	1	0	0	0	17240	1291	45	4	4515	4	VCAN	5	82833311	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		82833311	98081949	11	52561											
C6orf15	29113	broad.mit.edu	37	chr6	31079466	31079466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcgttccccaaccagtccCagggcctccacctccccagg	6	6	7	22	1	0	0	0	0	0	0	5	0	4	0	10	2	1	1	10	2	1	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr6:31079466C>T	ENST00000259870.3	-	2	673	c.670G>A	c.(670-672)Ggg>Agg	p.G224R		NM_014070.2	NP_054789.2	Q6UXA7	CF015_HUMAN	chromosome 6 open reading frame 15	224	Gly-rich.									endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)|stomach(1)	17						CAACCAGTCCCAGGGCCTCCA	0.587													T	31079466	C	T	31079466	3	4	660	1	0	0	0	0	1	0	0	0	2358	594	21	2	311	2	C6orf15	6	31079466	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		31079466	140035601	12	52562											
OPN4	94233	broad.mit.edu	37	chr10	88418275	88418275	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttctgtggagctctcttTggcatttcctccatgatcac	5	15	8	13	0	3	1	1	1	2	0	6	2	5	2	3	2	1	2	3	2	0	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr10:88418275T>C	ENST00000372071.2	+	5	719	c.492T>C	c.(490-492)ttT>ttC	p.F164F	OPN4_ENST00000241891.5_Silent_p.F153F	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	153					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GAGCTCTCTTTGGCATTTCCT	0.617													C	88418275	T	C	88418275	2	2	660	1	0	0	0	0	0	0	0	1	10958	1809	63	3		3	OPN4	10	88418275	Silent	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		88418275	47116472	13	52563											
OR52A5	390054	broad.mit.edu	37	chr11	5153482	5153482	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatggtggcatgtctcaaggGgatacagatggccacatagc	11	8	14	8	0	1	1	1	0	1	1	2	3	1	2	1	5	2	1	1	5	3	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:5153482G>T	ENST00000307388.1	-	1	390	c.391C>A	c.(391-393)Ccc>Acc	p.P131T		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	131					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		TGTCTCAAGGGGATACAGATG	0.473													T	5153482	G	T	5153482	3	4	660	1	0	0	0	0	1	0	0	0	11186	1232	43	4	562	4	OR52A5	11	5153482	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		5153482	129853034	14	52564											
ANO1	55107	broad.mit.edu	37	chr11	69934117	69934117	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggactaccacgaggatgAcaagcgcttccgcagggagg	11	5	15	10	3	0	1	0	1	0	0	1	6	1	4	2	4	2	2	2	4	2	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr11:69934117A>G	ENST00000355303.5	+	2	673	c.368A>G	c.(367-369)gAc>gGc	p.D123G	ANO1_ENST00000538023.1_Missense_Mutation_p.D123G|ANO1_ENST00000530676.1_Missense_Mutation_p.D7G|ANO1_ENST00000398543.2_Missense_Mutation_p.D7G|ANO1_ENST00000316296.5_Missense_Mutation_p.D95G	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	123					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CACGAGGATGACAAGCGCTTC	0.672													G	69934117	A	G	69934117	3	3	660	1	0	0	0	0	1	0	0	0	695	275	10	3	374	3	ANO1	11	69934117	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	64780635	69934117	65072399	15	52565											
TPTE2	93492	broad.mit.edu	37	chr13	20025343	20025343	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatagtggtttcgatgtttcTtatctagaaaccgcacaact	11	14	8	8	2	2	1	0	0	2	1	3	3	2	1	1	1	2	3	1	1	5	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr13:20025343T>C	ENST00000400230.2	-	11	808	c.764A>G	c.(763-765)aAg>aGg	p.K255R	TPTE2_ENST00000382978.1_Missense_Mutation_p.K215R|TPTE2_ENST00000457266.2_Missense_Mutation_p.K144R|TPTE2_ENST00000390680.2_Missense_Mutation_p.K178R|TPTE2_ENST00000400103.2_Missense_Mutation_p.K144R|TPTE2_ENST00000255310.6_Missense_Mutation_p.K178R|TPTE2_ENST00000382975.4_Missense_Mutation_p.K215R|TPTE2_ENST00000382977.4_Missense_Mutation_p.K255R			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	255	Phosphatase tensin-type.					endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		TCGATGTTTCTTATCTAGAAA	0.363													C	20025343	T	C	20025343	3	2	660	1	0	0	0	0	1	0	0	0	16532	1609	56	3	844	3	TPTE2	13	20025343	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		20025343	95144535	16	52566											
HSD3B7	80270	broad.mit.edu	37	chr16	30998231	30998231	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacggtgaaggccaccagaTcatgagggacttctaccgcc	10	7	11	13	2	2	3	1	2	1	1	2	4	2	4	4	3	2	0	4	3	3	3			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:30998231T>G	ENST00000297679.5	+	6	695	c.602T>G	c.(601-603)aTc>aGc	p.I201S	HSD3B7_ENST00000262520.6_Intron|HSD3B7_ENST00000353250.5_Intron	NM_025193.3	NP_079469.2	Q9H2F3	3BHS7_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7	201					bile acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|cholest-5-ene-3-beta,7-alpha-diol 3-beta-dehydrogenase activity			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGCCACCAGATCATGAGGGAC	0.662													G	30998231	T	G	30998231	3	3	660	1	0	0	0	0	1	0	0	0	7447	1435	50	5	620	5	HSD3B7	16	30998231	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08		30998231	59356522	17	52567											
CHMP1A	5119	broad.mit.edu	37	chr16	89720317	89720317	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccattcggtacataccttcaActggaacagggtatctgcaa	12	10	8	11	1	2	0	1	0	1	0	3	1	2	1	2	3	5	3	2	3	6	5			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr16:89720317A>G	ENST00000397901.3	-	2	278	c.22T>C	c.(22-24)Ttg>Ctg	p.L8L	CHMP1A_ENST00000253475.5_Intron|CHMP1A_ENST00000547614.1_Intron|CHMP1A_ENST00000535997.2_Intron|CHMP1A_ENST00000550102.1_Silent_p.L8L	NM_002768.3	NP_002759.2	Q9HD42	CHM1A_HUMAN	charged multivesicular body protein 1A	8					cell division|gene silencing|mitotic chromosome condensation|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription by glucose|protein transport|transcription, DNA-dependent|vesicle-mediated transport	condensed nuclear chromosome|early endosome|endomembrane system|endosome membrane|microtubule organizing center|nuclear matrix	metallopeptidase activity|protein domain specific binding|zinc ion binding			endometrium(1)|large_intestine(1)|ovary(1)	3		all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.048)		CATACCTTCAACTGGAACAGG	0.502													G	89720317	A	G	89720317	2	3	660	1	0	0	0	0	0	0	0	1	3382	40	2	3		3	CHMP1A	16	89720317	Silent	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	58722086	89720317	634436	18	52568											
TP53	7157	broad.mit.edu	37	chr17	7573991	7573992	+	Frame_Shift_Ins	INS	-	-	A																															tccttgagttccaaggcctcINSattcagctctcggaacatct																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr17:7573991_7573992insA	ENST00000269305.4	-	10	1224_1225	c.1035_1036insT	c.(1033-1038)aatgagfs	p.E346fs	TP53_ENST00000359597.4_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000445888.2_Frame_Shift_Ins_p.E346fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	346	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		E -> A (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.0?(8)|p.L344fs*23(2)|p.E346*(2)|p.L344fs*22(1)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TCCAAGGCCTCATTCAGCTCTC	0.579		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)			A	7573992	-	A	7573991	7	5	660	1	0	1	1	0	0	0	0	0	16482	835	29	0	153	0	TP53	17	7573991	Frame_Shift_Ins	INS	-	TCGA-QH-A65S-01A-11D-A29Q-08		7573991	73621219	19	52569											
BSG	682	broad.mit.edu	37	chr19	581456	581456	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gctccaagggctccgaccagGccatcatcacgctccgcgtg	7	6	11	17	4	2	0	2	0	0	0	5	1	5	0	5	2	0	3	5	2	1	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:581456G>A	ENST00000333511.3	+	6	1004	c.934G>A	c.(934-936)Gcc>Acc	p.A312T	BSG_ENST00000353555.4_Missense_Mutation_p.A196T|BSG_ENST00000545507.2_Missense_Mutation_p.A103T|BSG_ENST00000346916.4_Missense_Mutation_p.A132T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	312	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|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)		CTCCGACCAGGCCATCATCAC	0.647													A	581456	G	A	581456	3	1	660	1	0	0	0	0	1	0	0	0	1538	1203	42	2	992	2	BSG	19	581456	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		581456	58547527	20	52570											
BCAM	4059	broad.mit.edu	37	chr19	45323986	45323986	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggggagccagggctgagCcactcggggtcggagcaacc	8	3	17	13	2	0	1	0	1	0	0	2	3	0	3	4	6	4	2	4	6	1	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr19:45323986C>A	ENST00000270233.6	+	14	1810	c.1788C>A	c.(1786-1788)agC>agA	p.S596R		NM_001013257.2|NM_005581.4	NP_001013275.1|NP_005572.2	P50895	BCAM_HUMAN	basal cell adhesion molecule (Lutheran blood group)	596					cell-matrix adhesion	integral to plasma membrane	laminin binding|laminin receptor activity			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22	Lung NSC(12;0.000789)|all_lung(12;0.00218)	Ovarian(192;0.0728)|all_neural(266;0.112)				CAGGGCTGAGCCACTCGGGGT	0.716													A	45323986	C	A	45323986	3	1	660	1	0	0	0	0	1	0	0	0	1349	738	26	4	1846	4	BCAM	19	45323986	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08	44742530	45323986	13804997	21	52571											
PPP1R16B	26051	broad.mit.edu	37	chr20	37531389	37531389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatccactgcatgatcgCagcgggccaggacctggact	9	6	13	13	2	0	1	0	1	0	0	2	4	1	4	3	4	2	2	3	4	0	0			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:37531389C>T	ENST00000299824.1	+	6	839	c.650C>T	c.(649-651)gCa>gTa	p.A217V	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.A217V	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	217					regulation of filopodium assembly|signal transduction	nucleus|plasma membrane	protein phosphatase binding			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TGCATGATCGCAGCGGGCCAG	0.577													T	37531389	C	T	37531389	3	4	660	1	0	0	0	0	1	0	0	0	12448	710	25	2	668	2	PPP1R16B	20	37531389	Missense_Mutation	SNP	C	TCGA-QH-A65S-01A-11D-A29Q-08		37531389	25494131	22	52572											
ATP9A	10079	broad.mit.edu	37	chr20	50314007	50314007	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacttggatgttagaactctTcaccttcactgtgcctgcaa	10	13	7	11	0	3	1	2	0	1	1	3	2	3	2	2	1	4	2	2	1	4	4			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr20:50314007T>G	ENST00000338821.5	-	5	715	c.451A>C	c.(451-453)Aag>Cag	p.K151Q	ATP9A_ENST00000311637.5_Intron|ATP9A_ENST00000402822.1_Intron	NM_006045.1	NP_006036.1	O75110	ATP9A_HUMAN	ATPase, class II, type 9A	151					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(10)|lung(18)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTAGAACTCTTCACCTTCACT	0.443													G	50314007	T	G	50314007	3	3	660	1	0	0	0	0	1	0	0	0	1203	1792	62	5	2788	5	ATP9A	20	50314007	Missense_Mutation	SNP	T	TCGA-QH-A65S-01A-11D-A29Q-08	12782618	50314007	12711513	23	52573											
GGA1	26088	broad.mit.edu	37	chr22	38013019	38013019	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgacggtgagaaggggagaGgccaccatccgtcccccgcc	8	5	14	14	3	0	3	0	2	0	2	2	5	2	3	6	4	0	0	6	4	1	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chr22:38013019G>A	ENST00000381756.5	+	3	355	c.219G>A	c.(217-219)gaG>gaA	p.E73E	GGA1_ENST00000406772.1_Intron|GGA1_ENST00000414350.3_Silent_p.E73E|GGA1_ENST00000343632.4_Intron|GGA1_ENST00000405147.3_Intron|GGA1_ENST00000325180.8_Intron|GGA1_ENST00000337437.4_Intron			Q9UJY5	GGA1_HUMAN	golgi-associated, gamma adaptin ear containing, ARF binding protein 1	69	VHS.				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|endosome membrane|Golgi apparatus part	protein binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|urinary_tract(1)	10	Melanoma(58;0.0574)					GAAGGGGAGAGGCCACCATCC	0.627													A	38013019	G	A	38013019	2	1	660	1	0	0	0	0	0	0	0	1	6408	991	35	2		2	GGA1	22	38013019	Silent	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		38013019	13291547	24	52574											
FRMPD4	9758	broad.mit.edu	37	chrX	12736538	12736538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgactaccacttggccaagcGgatgtcatcactgcaaagcg	11	8	10	12	2	2	1	2	1	0	0	2	2	2	2	2	2	4	1	2	2	3	2			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:12736538G>A	ENST00000380682.1	+	16	4099	c.3593G>A	c.(3592-3594)cGg>cAg	p.R1198Q		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	1198					positive regulation of synapse structural plasticity	cytoskeleton|dendritic spine	phosphatidylinositol-4,5-bisphosphate binding|protein binding			breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						TTGGCCAAGCGGATGTCATCA	0.582													A	12736538	G	A	12736538	3	1	660	1	0	0	0	0	1	0	0	0	6111	1116	39	1	3655	1	FRMPD4	23	12736538	Missense_Mutation	SNP	G	TCGA-QH-A65S-01A-11D-A29Q-08		12736538	142534022	25	52575											
ATRX	546	broad.mit.edu	37	chrX	76918915	76918915	+	Frame_Shift_Del	DEL	T	T	-																															cttctttatgctctttaggcTttgtctttttttcttctcca																										TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:76918915delT	ENST00000373344.5	-	12	4290	c.4076delA	c.(4075-4077)aagfs	p.K1359fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1321fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1359					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)	CTCTTTAGGCTTTGTCTTTTT	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76918915	T	-	76918915	7	5	660	1	0	1	0	1	0	0	0	0	1213	1609	56	0	3498	0	ATRX	23	76918915	Frame_Shift_Del	DEL	T	TCGA-QH-A65S-01A-11D-A29Q-08	64182377	76918915	78351645	26	52576											
PCDH19	57526	broad.mit.edu	37	chrX	99662601	99662601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccagcacgctgacggtgAccttgcagtgtgccgggatg	6	9	15	11	3	0	2	0	2	0	0	1	3	1	3	3	2	3	3	3	2	0	1			TCGA-QH-A65S-01A-11D-A29Q-08	TCGA-QH-A65S-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	05be7524-29b3-47c4-95bd-eecb53e97770	f3762aaf-0169-420b-93dd-2ebd5afe4412	g.chrX:99662601A>G	ENST00000373034.4	-	1	2670	c.995T>C	c.(994-996)gTc>gCc	p.V332A	PCDH19_ENST00000255531.7_Missense_Mutation_p.V332A|PCDH19_ENST00000420881.2_Missense_Mutation_p.V332A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	332	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GCTGACGGTGACCTTGCAGTG	0.602													G	99662601	A	G	99662601	3	3	660	1	0	0	0	0	1	0	0	0	11590	275	10	3	2475	3	PCDH19	23	99662601	Missense_Mutation	SNP	A	TCGA-QH-A65S-01A-11D-A29Q-08	22743686	99662601	55607959	27	52577											
KCNAB2	8514	broad.mit.edu	37	chr1	6155592	6155592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttttcctcttcaggaGtgggcgccatgacctggtcc	4	12	11	14	1	2	1	1	1	1	0	4	2	4	2	5	3	1	1	5	3	0	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:6155592G>T	ENST00000164247.1	+	13	1276	c.712G>T	c.(712-714)Gtg>Ttg	p.V238L	KCNAB2_ENST00000378083.3_Missense_Mutation_p.V286L|KCNAB2_ENST00000458166.2_Missense_Mutation_p.V171L|KCNAB2_ENST00000378092.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000378111.1_Intron|KCNAB2_ENST00000352527.1_Missense_Mutation_p.V224L|KCNAB2_ENST00000378087.3_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000341524.1_Missense_Mutation_p.V238L|KCNAB2_ENST00000378097.1_Missense_Mutation_p.V238L	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	238						cytoplasm|integral to membrane|juxtaparanode region of axon	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	p.V238L(1)		large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		CTCTTCAGGAGTGGGCGCCAT	0.632													T	6155592	G	T	6155592	3	4	661	1	0	0	0	0	1	0	0	0	8068	1029	36	4	758	4	KCNAB2	1	6155592	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		6155592	243095029	1	52578											
NOTCH2	4853	broad.mit.edu	37	chr1	120491184	120491184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcaatgtcaatggtacaccGctgacctaggaacacagggc	12	7	11	11	1	2	1	2	1	0	0	2	2	2	2	2	3	2	2	2	3	5	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr1:120491184G>A	ENST00000256646.2	-	17	2824	c.2605C>T	c.(2605-2607)Cgg>Tgg	p.R869W		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	869	EGF-like 22.				anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ATGGTACACCGCTGACCTAGG	0.512			"N, F, Mis"		"marginal zone lymphoma, DLBCL"				Alagille Syndrome		OREG0013733	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	120491184	G	A	120491184	3	1	661	1	0	0	0	0	1	0	0	0	10624	1086	38	1	4882	1	NOTCH2	1	120491184	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	114335592	120491184	128759437	2	52579											
NCKAP1	10787	broad.mit.edu	37	chr2	183866755	183866755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaatcatctggccaaggcGtgggtattctctgtcactta	9	12	9	11	1	4	0	2	0	2	0	5	0	4	0	1	3	0	1	1	3	4	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:183866755G>A	ENST00000361354.4	-	6	901	c.529C>T	c.(529-531)Cgc>Tgc	p.R177C	NCKAP1_ENST00000360982.2_Missense_Mutation_p.R183C	NM_013436.3	NP_038464.1	Q9Y2A7	NCKP1_HUMAN	NCK-associated protein 1						apoptosis|central nervous system development	integral to membrane|lamellipodium membrane	protein binding			breast(3)|cervix(2)|endometrium(3)|kidney(4)|large_intestine(11)|lung(16)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.0942)|Epithelial(96;0.209)			TGGCCAAGGCGTGGGTATTCT	0.363													A	183866755	G	A	183866755	3	1	661	1	0	0	0	0	1	0	0	0	10297	1145	40	1	2961	1	NCKAP1	2	183866755	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		183866755	59332618	3	52580											
ZC3H15	55854	broad.mit.edu	37	chr2	187371527	187371527	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caggtattactgtagccagtCttgaaagattcagcacatat	13	12	8	8	0	2	2	1	1	1	1	2	2	2	2	1	1	3	3	1	1	5	6			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:187371527C>G	ENST00000337859.6	+	9	1281	c.1054C>G	c.(1054-1056)Ctt>Gtt	p.L352V		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	352						cytoplasm|nucleolus|plasma membrane	nucleic acid binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			TGTAGCCAGTCTTGAAAGATT	0.348													G	187371527	C	G	187371527	3	3	661	1	0	0	0	0	1	0	0	0	17668	913	32	4	1088	4	ZC3H15	2	187371527	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	3504772	187371527	55827846	4	52581											
COL5A2	1290	broad.mit.edu	37	chr2	189898826	189898826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactggcccaatttcaacGccgaattcctggtctgtgcc	9	10	8	14	2	2	0	1	0	1	0	3	1	3	0	4	2	3	0	4	2	4	2	rs142895373		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr2:189898826G>A	ENST00000374866.3	-	54	4744	c.4470C>T	c.(4468-4470)ggC>ggT	p.G1490G		NM_000393.3	NP_000384.2	P05997	CO5A2_HUMAN	collagen, type V, alpha 2	1490	Fibrillar collagen NC1.				axon guidance|collagen fibril organization|eye morphogenesis|skin development	collagen type V	extracellular matrix structural constituent	p.G1490G(1)		NS(3)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(53)|ovary(3)|prostate(2)|skin(6)|urinary_tract(3)	95			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.127)			CAATTTCAACGCCGAATTCCT	0.473													A	189898826	G	A	189898826	2	1	661	1	0	0	0	0	0	0	0	1	3728	1074	38	1		1	COL5A2	2	189898826	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	2527299	189898826	53300547	5	52582											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	661	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	19214286	209113112	34086261	6	52583											
SCAND3	114821	broad.mit.edu	37	chr6	28540332	28540332	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaagcattaagatcattaaAaatactgaagatatcagaca	21	9	6	5	0	2	5	2	1	0	4	2	5	2	5	0	0	2	1	0	0	8	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:28540332A>G	ENST00000452236.2	-	4	3951	c.3334T>C	c.(3334-3336)Ttt>Ctt	p.F1112L		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	1112				F -> FF (in Ref. 3; CAD28490).	DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						agatcattaaaaatactgaag	0.353													G	28540332	A	G	28540332	3	3	661	1	0	0	0	0	1	0	0	0	13968	14	1	3	647	3	SCAND3	6	28540332	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		28540332	142574735	7	52584											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													A	45390463	G	A	45390463	2	1	661	1	0	0	0	0	0	0	0	1	13839	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	16850131	45390463	125724604	8	52585											
SUMF2	25870	broad.mit.edu	37	chr7	56142409	56142409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggaggaagagtgggagtttgCcgcccgagggggcttgaagg	8	6	21	6	2	0	2	0	1	0	1	0	6	0	5	2	6	1	2	2	6	2	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:56142409C>T	ENST00000434526.2	+	5	603	c.572C>T	c.(571-573)gCc>gTc	p.A191V	SUMF2_ENST00000413756.1_Missense_Mutation_p.A172V|SUMF2_ENST00000275607.9_Missense_Mutation_p.A84V|SUMF2_ENST00000342190.6_Missense_Mutation_p.A191V|SUMF2_ENST00000437307.2_Intron|SUMF2_ENST00000395435.2_Intron|SUMF2_ENST00000395436.2_Missense_Mutation_p.A176V	NM_001042469.1|NM_015411.2	NP_001035934.2|NP_056226	Q8NBJ7	SUMF2_HUMAN	sulfatase modifying factor 2	172						endoplasmic reticulum lumen	metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	14	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGGGAGTTTGCCGCCCGAGGG	0.567											OREG0018081	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	56142409	C	T	56142409	3	4	661	1	0	0	0	0	1	0	0	0	15482	739	26	2	590	2	SUMF2	7	56142409	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		56142409	102996254	9	52586											
STAG3L4	64940	broad.mit.edu	37	chr7	66771046	66771046	+	RNA	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttctggagcttgttaactttTtcatctgatcttgtggatgt	6	20	9	6	0	4	1	1	1	3	0	4	3	4	3	0	2	2	2	0	2	1	6			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:66771046T>G	ENST00000416602.2	+	0	338					NR_040586.1		Q8TBR4	STG34_HUMAN												endometrium(2)|lung(5)	7		Lung NSC(55;0.0839)|all_lung(88;0.181)				TGTTAACTTTTTCATCTGATC	0.388													G	66771046	T	G	66771046	1	3	661	0	1	0	0	0	0	0	0	0	15343	1838	64	5		5	STAG3L4	7	66771046	RNA	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	10628637	66771046	92367617	10	52587											
PCLO	27445	broad.mit.edu	37	chr7	82578793	82578793	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaaaagaatcactcttaccGtatagccctcggtatactga	13	11	7	10	2	2	3	1	2	1	1	3	3	2	3	2	1	3	2	2	1	8	5			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:82578793G>A	ENST00000333891.9	-	6	11448	c.11111C>T	c.(11110-11112)aCg>aTg	p.T3704M	PCLO_ENST00000423517.2_Splice_Site_p.T3704M|PCLO_ENST00000437081.1_Splice_Site_p.T424M	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTCTTACCGTATAGCCCTC	0.463													A	82578793	G	A	82578793	5	1	661	1	0	0	0	0	0	0	1	0	11659	1159	40	1	4414	1	PCLO	7	82578793	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	15807747	82578793	76559870	11	52588											
SND1	27044	broad.mit.edu	37	chr7	127631024	127631024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgaatgccccagaggagcccGaaacctcccaggcttggtgc	9	6	12	14	1	0	2	0	1	0	1	1	4	1	3	5	3	4	1	5	3	2	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:127631024G>A	ENST00000354725.3	+	16	1888	c.1694G>A	c.(1693-1695)cGa>cAa	p.R565Q	SND1_ENST00000467238.1_3'UTR	NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1	565	TNase-like 4.				gene silencing by RNA|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	melanosome|nucleus|RNA-induced silencing complex	nuclease activity|nucleic acid binding|protein binding|transcription cofactor activity			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						AGAGGAGCCCGAAACCTCCCA	0.542													A	127631024	G	A	127631024	3	1	661	1	0	0	0	0	1	0	0	0	14938	1058	37	1	1756	1	SND1	7	127631024	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	45052231	127631024	31507639	12	52589											
TRPV6	55503	broad.mit.edu	37	chr7	142571891	142571891	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcgcatcaggtcgccaaaaAtcatctagaaggagcaggag	15	6	11	9	2	3	1	2	0	1	1	5	3	3	3	1	3	1	2	1	3	4	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr7:142571891A>G	ENST00000359396.3	-	12	1702	c.1457T>C	c.(1456-1458)aTt>aCt	p.I486T		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	486					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GTCGCCAAAAATCATCTAGAA	0.547													G	142571891	A	G	142571891	3	3	661	1	0	0	0	0	1	0	0	0	16701	101	4	3	736	3	TRPV6	7	142571891	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	14940867	142571891	16566772	13	52590											
TNC	3371	broad.mit.edu	37	chr9	117848575	117848575	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacatgccattcacacagcGgccgtgctggtgacagtcat	10	8	10	13	2	2	1	2	1	0	0	2	1	2	1	2	2	3	1	2	2	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr9:117848575G>A	ENST00000350763.4	-	3	1846	c.1435C>T	c.(1435-1437)Cgc>Tgc	p.R479C	TNC_ENST00000341037.4_Missense_Mutation_p.R479C|TNC_ENST00000423613.2_Missense_Mutation_p.R479C|TNC_ENST00000346706.3_Missense_Mutation_p.R479C|TNC_ENST00000340094.3_Missense_Mutation_p.R479C|TNC_ENST00000542877.1_Missense_Mutation_p.R479C|TNC_ENST00000535648.1_Missense_Mutation_p.R479C|TNC_ENST00000537320.1_Missense_Mutation_p.R479C|TNC_ENST00000345230.3_Missense_Mutation_p.R479C	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	479	EGF-like 11.				cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						TTCACACAGCGGCCGTGCTGG	0.582													A	117848575	G	A	117848575	3	1	661	1	0	0	0	0	1	0	0	0	16370	1116	39	1	5274	1	TNC	9	117848575	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		117848575	23364856	14	52591											
PWWP2B	170394	broad.mit.edu	37	chr10	134218474	134218474	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgcggcggcgtctgtcccGcaaccgcgacccggggcgcc	4	3	15	19	9	1	0	0	0	1	0	2	1	2	0	4	4	1	1	4	4	1	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr10:134218474G>A	ENST00000305233.5	+	2	529	c.470G>A	c.(469-471)cGc>cAc	p.R157H	PWWP2B_ENST00000368609.4_Missense_Mutation_p.R157H	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	157										central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CGTCTGTCCCGCAACCGCGAC	0.726													A	134218474	G	A	134218474	3	1	661	1	0	0	0	0	1	0	0	0	12934	1087	38	1	476	1	PWWP2B	10	134218474	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		134218474	1316273	15	52592											
OR5AS1	219447	broad.mit.edu	37	chr11	55798589	55798589	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgagcatcaagtcctcagGtggcagaagcaaaacattct	13	9	10	9	0	3	2	2	1	1	1	4	2	4	2	1	2	3	4	1	2	4	2			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:55798589G>T	ENST00000313555.1	+	1	695	c.695G>T	c.(694-696)gGt>gTt	p.G232V		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	232					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					AAGTCCTCAGGTGGCAGAAGC	0.453													T	55798589	G	T	55798589	3	4	661	1	0	0	0	0	1	0	0	0	11222	1261	44	4	697	4	OR5AS1	11	55798589	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		55798589	79207927	16	52593											
HYLS1	219844	broad.mit.edu	37	chr11	125770123	125770123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgaccttgcaaatggtgTcatacccaggaagcttccct	9	12	9	11	0	1	1	1	1	0	0	2	2	2	2	3	2	3	2	3	2	3	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr11:125770123T>C	ENST00000425380.2	+	3	1641	c.860T>C	c.(859-861)gTc>gCc	p.V287A	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Missense_Mutation_p.V287A|HYLS1_ENST00000356438.3_Missense_Mutation_p.V287A	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	287						centrosome|nucleus				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GCAAATGGTGTCATACCCAGG	0.403													C	125770123	T	C	125770123	3	2	661	1	0	0	0	0	1	0	0	0	7527	1667	58	3	862	3	HYLS1	11	125770123	Missense_Mutation	SNP	T	TCGA-QH-A65V-01A-11D-A29Q-08	69971534	125770123	9236393	17	52594											
ZC3H13	23091	broad.mit.edu	37	chr13	46619598	46619598	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgggatgtgctatcagatatAgtcttggtattttccactgt	8	16	10	7	1	2	1	1	0	1	1	3	2	3	2	1	2	1	2	1	2	4	7			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr13:46619598A>G	ENST00000242848.4	-	2	393	c.45T>C	c.(43-45)acT>acC	p.T15T	ZC3H13_ENST00000282007.3_Silent_p.T15T			Q5T200	ZC3HD_HUMAN	zinc finger CCCH-type containing 13	15							nucleic acid binding|zinc ion binding			cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|lung(25)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	79		Lung NSC(96;7.26e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;4.18e-05)		TATCAGATATAGTCTTGGTAT	0.413													G	46619598	A	G	46619598	2	3	661	1	0	0	0	0	0	0	0	1	17666	407	15	3		3	ZC3H13	13	46619598	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		46619598	68550280	18	52595											
C15orf43	145645	broad.mit.edu	37	chr15	45248953	45248953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggttggttttgcggcagcGttagccaggatctgaggcaa	7	10	16	8	3	1	1	0	1	1	0	1	2	1	2	1	5	3	5	1	5	2	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr15:45248953G>A	ENST00000340827.3	+	1	54	c.37G>A	c.(37-39)Gtt>Att	p.V13I		NM_152448.2	NP_689661.1	Q8NHR7	CO043_HUMAN	chromosome 15 open reading frame 43	13										NS(1)|breast(2)|large_intestine(1)|lung(2)|skin(2)	8		all_cancers(109;3.68e-08)|all_epithelial(112;1.05e-06)|Lung NSC(122;1.42e-05)|all_lung(180;0.000112)|Melanoma(134;0.0192)		all cancers(107;7.64e-17)|GBM - Glioblastoma multiforme(94;2.03e-06)		TTGCGGCAGCGTTAGCCAGGA	0.582													A	45248953	G	A	45248953	3	1	661	1	0	0	0	0	1	0	0	0	1810	1145	40	1	39	1	C15orf43	15	45248953	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		45248953	57282439	19	52596											
PRR14	78994	broad.mit.edu	37	chr16	30664041	30664041	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacacctctttctcttccaGgtccccgtggtgccctcaaa	6	12	7	16	1	3	1	1	1	2	0	6	1	5	1	5	2	1	0	5	2	1	2	rs147414936		TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:30664041G>A	ENST00000542965.2	+	3	648		c.e3-1		PRR14_ENST00000300835.4_Splice_Site			Q9BWN1	PRR14_HUMAN	proline rich 14											breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			TTCTCTTCCAGGTCCCCGTGG	0.587													A	30664041	G	A	30664041	5	1	661	1	0	0	0	0	0	0	1	0	12672	1014	35	2	202	2	PRR14	16	30664041	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		30664041	59690712	20	52597											
LONP2	83752	broad.mit.edu	37	chr16	48296697	48296697	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctttctccacagactcaaaaAaatgcctcagtcaatgccag	14	9	5	13	0	4	1	3	0	1	1	5	1	4	1	3	0	2	0	3	0	4	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr16:48296697A>C	ENST00000285737.4	+	6	989	c.896A>C	c.(895-897)aAa>aCa	p.K299T	LONP2_ENST00000535754.1_Missense_Mutation_p.K255T	NM_031490.2	NP_113678.2	Q86WA8	LONP2_HUMAN	lon peptidase 2, peroxisomal	299					misfolded or incompletely synthesized protein catabolic process|protein targeting to peroxisome|signal peptide processing	nucleoid|peroxisomal matrix	ATP binding|ATP-dependent peptidase activity|enzyme binding|sequence-specific DNA binding|serine-type endopeptidase activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	31						AGACTCAAAAAAATGCCTCAG	0.348													C	48296697	A	C	48296697	3	2	661	1	0	0	0	0	1	0	0	0	8963	14	1	5	918	5	LONP2	16	48296697	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	17632656	48296697	42058056	21	52598											
PSME3	10197	broad.mit.edu	37	chr17	40990763	40990763	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaggtcaaaatgtgggtaCagctcctgattcccaggata	11	10	10	10	0	1	1	1	1	0	0	4	2	4	2	3	3	2	2	3	3	4	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:40990763C>T	ENST00000293362.3	+	7	621	c.460C>T	c.(460-462)Cag>Tag	p.Q154*	PSME3_ENST00000545225.1_Nonsense_Mutation_p.Q80*|PSME3_ENST00000590720.1_Nonsense_Mutation_p.Q141*|PSME3_ENST00000441946.2_Nonsense_Mutation_p.Q152*|PSME3_ENST00000541124.1_3'UTR|PSME3_ENST00000592169.1_Nonsense_Mutation_p.Q85*	NM_005789.3|NM_176863.2	NP_005780.2|NP_789839.1	P61289	PSME3_HUMAN	proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki)	141					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|regulation of proteasomal protein catabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome activator complex	endopeptidase activator activity|identical protein binding|MDM2 binding|p53 binding			NS(1)|cervix(1)|large_intestine(3)|lung(1)	6		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)		AATGTGGGTACAGCTCCTGAT	0.463													T	40990763	C	T	40990763	4	4	661	1	0	0	0	0	0	1	0	0	12793	479	17	2	486	2	PSME3	17	40990763	Nonsense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		40990763	40204447	22	52599											
AXIN2	8313	broad.mit.edu	37	chr17	63533498	63533498	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtggcttttgcatttcgaGtagcagtaatactcgctgcc	8	13	11	9	2	0	0	0	0	0	0	2	2	0	0	1	1	4	6	1	1	3	6			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:63533498G>A	ENST00000307078.5	-	6	1969	c.1656C>T	c.(1654-1656)taC>taT	p.Y552Y	AXIN2_ENST00000375702.5_Silent_p.Y552Y	NM_004655.3	NP_004646.3	Q9Y2T1	AXIN2_HUMAN	axin 2	552					cellular protein localization|cellular response to organic cyclic compound|dorsal/ventral axis specification|intramembranous ossification|maintenance of DNA repeat elements|mRNA stabilization|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of catenin import into nucleus|negative regulation of cell proliferation|negative regulation of osteoblast differentiation|odontogenesis|positive regulation of cell death|positive regulation of epithelial to mesenchymal transition|positive regulation of protein phosphorylation|regulation of centromeric sister chromatid cohesion|regulation of mismatch repair|Wnt receptor signaling pathway involved in somitogenesis	Axin-APC-beta-catenin-GSK3B complex|cell cortex|centrosome|cytoplasmic membrane-bounded vesicle|cytoplasmic microtubule|nucleus|plasma membrane|postsynaptic density	armadillo repeat domain binding|beta-catenin binding|GTPase activator activity|protein kinase binding|signal transducer activity|ubiquitin protein ligase binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						TGCATTTCGAGTAGCAGTAAT	0.627									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome				A	63533498	G	A	63533498	2	1	661	1	0	0	0	0	0	0	0	1	1242	1024	36	2		2	AXIN2	17	63533498	Silent	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	22542735	63533498	17661712	23	52600											
UNC13D	201294	broad.mit.edu	37	chr17	73826535	73826535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaggccttgactgtcacaGcccccagctcctcagaggtg	8	7	12	14	0	2	2	2	1	0	1	3	3	3	3	4	3	2	1	4	3	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr17:73826535G>A	ENST00000207549.4	-	29	3117	c.2738C>T	c.(2737-2739)gCt>gTt	p.A913V	UNC13D_ENST00000412096.2_Missense_Mutation_p.A913V	NM_199242.2	NP_954712.1	Q70J99	UN13D_HUMAN	unc-13 homolog D (C. elegans)	913	C2 2.				positive regulation of exocytosis|regulation of mast cell degranulation	exocytic vesicle|late endosome|lysosome|membrane|recycling endosome	protein binding			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29			all cancers(21;2.11e-06)|Epithelial(20;2.32e-06)|BRCA - Breast invasive adenocarcinoma(9;0.000618)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACTGTCACAGCCCCCAGCTC	0.682									Familial Hemophagocytic Lymphohistiocytosis		OREG0024741	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	73826535	G	A	73826535	3	1	661	1	0	0	0	0	1	0	0	0	17089	971	34	2	550	2	UNC13D	17	73826535	Missense_Mutation	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08	10293037	73826535	7368675	24	52601											
ANKRD30B	374860	broad.mit.edu	37	chr18	14843023	14843023	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttcttccaaacccgtttagCctgccactgaaatgcaaaac	12	11	5	13	1	1	1	0	1	1	0	2	1	2	1	4	0	5	2	4	0	5	4			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr18:14843023C>G	ENST00000358984.4	+	33	2932	c.2752C>G	c.(2752-2754)Cct>Gct	p.P918A		NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	1003										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						ACCCGTTTAGCCTGCCACTGA	0.289													G	14843023	C	G	14843023	5	3	661	1	0	0	0	0	0	0	1	0	659	753	26	4	2882	4	ANKRD30B	18	14843023	Splice_Site	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08		14843023	63234225	25	52602											
CELF5	60680	broad.mit.edu	37	chr19	3251064	3251064	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgagcagaagaccttgcccgGagtgagtcctgtgtggtgtc	7	9	15	10	2	0	3	0	1	0	2	2	5	1	4	3	2	2	1	3	2	1	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:3251064G>T	ENST00000541430.2	+	2	377	c.341G>T	c.(340-342)gGa>gTa	p.G114V	CELF5_ENST00000292672.2_Splice_Site_p.G114V	NM_001172673.1	NP_001166144.1	Q8N6W0	CELF5_HUMAN	CUGBP, Elav-like family member 5	114	RRM 1.				mRNA processing	cytoplasm|nucleus	nucleotide binding|RNA binding			kidney(1)|large_intestine(2)|lung(7)|ovary(2)|skin(1)	13						ACCTTGCCCGGAGTGAGTCCT	0.602													T	3251064	G	T	3251064	5	4	661	1	0	0	0	0	0	0	1	0	3249	1188	41	4	347	4	CELF5	19	3251064	Splice_Site	SNP	G	TCGA-QH-A65V-01A-11D-A29Q-08		3251064	55877919	26	52603											
EBI3	10148	broad.mit.edu	37	chr19	4236975	4236975	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttcatcctcagggctgtgCggccccgagccaggtactac	6	8	11	16	2	2	0	2	0	0	0	3	1	3	0	5	3	4	2	5	3	2	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:4236975C>T	ENST00000221847.5	+	5	633	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_005755.2	NP_005746.2	Q14213	IL27B_HUMAN	Epstein-Barr virus induced 3	194	Fibronectin type-III 2.				humoral immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of interferon-gamma biosynthetic process|T-helper 1 type immune response	extracellular space|plasma membrane	cytokine activity|cytokine receptor activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(1)	5		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0336)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGGCTGTGCGGCCCCGAGC	0.607													T	4236975	C	T	4236975	3	4	661	1	0	0	0	0	1	0	0	0	4922	759	27	1	598	1	EBI3	19	4236975	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	985911	4236975	54892008	27	52604											
CNTD2	79935	broad.mit.edu	37	chr19	40730639	40730639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatacctacgtgcacctggAccagccagtctaccaccagg	11	6	9	15	1	1	1	0	0	1	1	1	2	1	2	6	2	5	1	6	2	3	3			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:40730639A>C	ENST00000430325.2	-	2	395	c.347T>G	c.(346-348)gTc>gGc	p.V116G	CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G|CNTD2_ENST00000433940.1_Intron	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN	cyclin N-terminal domain containing 2	116					regulation of cyclin-dependent protein kinase activity		protein kinase binding			lung(1)|prostate(1)	2						GTGCACCTGGACCAGCCAGTC	0.697													C	40730639	A	C	40730639	3	2	661	1	0	0	0	0	1	0	0	0	3667	275	10	5	592	5	CNTD2	19	40730639	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	36493664	40730639	18398344	28	52605											
CIC	23152	broad.mit.edu	37	chr19	42799059	42799059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgaagatccgtgaggtgCgccagaagatcatgcaggct	11	8	14	8	2	1	5	1	2	0	3	2	5	2	5	2	2	2	3	2	2	2	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:42799059C>T	ENST00000572681.2	+	21	7329	c.7261C>T	c.(7261-7263)Cgc>Tgc	p.R2421C	CIC_ENST00000160740.3_Missense_Mutation_p.R1513C|CIC_ENST00000575354.2_Missense_Mutation_p.R1515C			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1515					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCGTGAGGTGCGCCAGAAGAT	0.632			"Mis, F, S"		oligodendroglioma								T	42799059	C	T	42799059	3	4	661	1	0	0	0	0	1	0	0	0	3454	768	27	1	4621	1	CIC	19	42799059	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2068420	42799059	16329924	29	52606											
ZNF285	26974	broad.mit.edu	37	chr19	44892133	44892133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactcttcttgaaggttcaCgatataatcctgactcacag	12	12	6	11	1	4	2	2	2	2	0	5	3	5	2	1	1	0	1	1	1	3	5	rs140033872	by1000genomes	TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr19:44892133C>T	ENST00000330997.4	-	4	338	c.274G>A	c.(274-276)Gtg>Atg	p.V92M	ZNF285_ENST00000591679.1_Missense_Mutation_p.V99M|ZNF285_ENST00000544719.2_Missense_Mutation_p.V92M|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						TGAAGGTTCACGATATAATCC	0.418													T	44892133	C	T	44892133	3	4	661	1	0	0	0	0	1	0	0	0	17923	536	19	1	1502	1	ZNF285	19	44892133	Missense_Mutation	SNP	C	TCGA-QH-A65V-01A-11D-A29Q-08	2093074	44892133	14236850	30	52607											
CD40	958	broad.mit.edu	37	chr20	44751286	44751286	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcagaagggcacctcagaAacagacaccatctgcacctg	14	4	9	14	0	2	3	1	0	1	3	2	3	2	3	3	1	3	3	3	1	2	0			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chr20:44751286A>G	ENST00000372285.3	+	4	366	c.294A>G	c.(292-294)gaA>gaG	p.E98E	CD40_ENST00000372276.3_Silent_p.E98E|CD40_ENST00000489304.1_3'UTR	NM_001250.4	NP_001241.1	P25942	TNR5_HUMAN	CD40 molecule, TNF receptor superfamily member 5	98					B cell proliferation|cellular response to mechanical stimulus|inflammatory response|platelet activation|positive regulation of endothelial cell apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein complex assembly	CD40 receptor complex|extracellular region	enzyme binding|receptor activity			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10		Myeloproliferative disorder(115;0.0122)			Simvastatin(DB00641)	GCACCTCAGAAACAGACACCA	0.607									Immune Deficiency with Hyper-IgM				G	44751286	A	G	44751286	2	3	661	1	0	0	0	0	0	0	0	1	3045	11	1	3		3	CD40	20	44751286	Silent	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08		44751286	18274234	31	52608											
XG	7499	broad.mit.edu	37	chrX	2670333	2670333	+	Frame_Shift_Del	DEL	A	A	-																															accatggagagctggtggggActtccctgtcttgcgttcct																										TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:2670333delA	ENST00000426774.1	+	1	241	c.18delA	c.(16-18)ggafs	p.G6fs	XG_ENST00000419513.2_Frame_Shift_Del_p.G6fs|XG_ENST00000381174.5_Frame_Shift_Del_p.G6fs	NM_001141920.1|NM_175569.2	NP_001135392.1|NP_780778.1	P55808	XG_HUMAN	Xg blood group	6						integral to membrane|plasma membrane				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8		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)				GCTGGTGGGGACTTCCCTGTC	0.532													-	2670333	A	-	2670333	7	5	661	1	0	1	0	1	0	0	0	0	17529	262	10	0	20	0	XG	23	2670333	Frame_Shift_Del	DEL	A	TCGA-QH-A65V-01A-11D-A29Q-08		2670333	152600227	32	52609											
MID1IP1	58526	broad.mit.edu	37	chrX	38664318	38664318	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcccagcttgctgcgcgAcgtgcccctggctgaccccg	3	7	14	17	4	0	1	0	1	0	0	0	2	0	1	5	2	5	3	5	2	0	1			TCGA-QH-A65V-01A-11D-A29Q-08	TCGA-QH-A65V-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	03328f23-41c2-42b8-8c9c-1824338aa98b	f5978804-96d3-4d66-92a0-b3075996bc9e	g.chrX:38664318A>T	ENST00000336949.6	+	2	1064	c.119A>T	c.(118-120)gAc>gTc	p.D40V	MID1IP1_ENST00000378474.3_Missense_Mutation_p.D40V|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D40V	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	40					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						TTGCTGCGCGACGTGCCCCTG	0.632													T	38664318	A	T	38664318	3	4	661	1	0	0	0	0	1	0	0	0	9652	275	10	5	121	5	MID1IP1	23	38664318	Missense_Mutation	SNP	A	TCGA-QH-A65V-01A-11D-A29Q-08	35993985	38664318	116606242	33	52610											
ARID1A	8289	broad.mit.edu	37	chr1	27057967	27057971	+	Frame_Shift_Del	DEL	CCTTA	CCTTA	-																															cacagccacaggctcagtctCcttaccagcagcagcaacct																										TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:27057967_27057971delCCTTA	ENST00000324856.7	+	3	2046_2050	c.1675_1679delCCTTA	c.(1675-1680)ccttacfs	p.PY559fs	ARID1A_ENST00000457599.2_Frame_Shift_Del_p.PY559fs|ARID1A_ENST00000374152.2_Frame_Shift_Del_p.PY176fs	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	559					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GGCTCAGTCTCCTTACCAGCAGCAG	0.634			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								-	27057971	CCTTA	-	27057967	7	5	662	1	0	1	0	1	0	0	0	0	916	855	30	0	1685	0	ARID1A	1	27057967	Frame_Shift_Del	DEL	CCTTA	TCGA-QH-A65X-01A-11D-A32B-08		27057967	222192654	1	52611											
RAVER2	55225	broad.mit.edu	37	chr1	65272951	65272951	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcatgttaccattctttCcaaatcagcacattgctgga	10	13	8	10	0	2	0	1	0	1	0	3	1	3	1	2	2	3	4	2	2	2	4			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:65272951C>A	ENST00000294428.3	+	9	1552	c.1474C>A	c.(1474-1476)Cca>Aca	p.P492T	RAVER2_ENST00000371072.4_Missense_Mutation_p.P479T|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	492						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						ACCATTCTTTCCAAATCAGCA	0.463													A	65272951	C	A	65272951	3	1	662	1	0	0	0	0	1	0	0	0	13183	855	30	4	1469	4	RAVER2	1	65272951	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	38214984	65272951	183977670	2	52612											
AMY2B	280	broad.mit.edu	37	chr1	104120221	104120221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctgtgaacatcgatggcGccaaataaggtgagaatatg	13	9	13	6	2	1	2	0	2	1	1	2	4	1	2	1	3	1	0	1	3	5	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:104120221G>A	ENST00000361355.4	+	10	1827	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	AMY2B_ENST00000491397.1_Intron	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	404					carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding			breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		CATCGATGGCGCCAAATAAGG	0.343													A	104120221	G	A	104120221	3	1	662	1	0	0	0	0	1	0	0	0	595	1087	38	1	1241	1	AMY2B	1	104120221	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	38847270	104120221	145130400	3	52613											
DUSP27	92235	broad.mit.edu	37	chr1	167095078	167095078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggtcagcagtgctggtggTcgcctacctgatgatcttcc	5	11	12	13	2	2	2	1	2	1	0	4	2	3	2	4	3	3	2	4	3	1	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr1:167095078T>C	ENST00000361200.2	+	6	876	c.710T>C	c.(709-711)gTc>gCc	p.V237A	DUSP27_ENST00000271385.5_Missense_Mutation_p.V237A|DUSP27_ENST00000443333.1_Missense_Mutation_p.V237A			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	237	Tyrosine-protein phosphatase.				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						GTGCTGGTGGTCGCCTACCTG	0.527													C	167095078	T	C	167095078	3	2	662	1	0	0	0	0	1	0	0	0	4863	1667	58	3	728	3	DUSP27	1	167095078	Missense_Mutation	SNP	T	TCGA-QH-A65X-01A-11D-A32B-08	62974857	167095078	82155543	4	52614											
DNMT3A	1788	broad.mit.edu	37	chr2	25497832	25497832	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttttccagcgtgccagcCactcgtcccgcttgcgcttg	3	11	9	18	4	0	0	0	0	0	0	3	0	2	0	5	0	4	2	5	0	0	4			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:25497832C>T	ENST00000264709.3	-	6	954	c.617G>A	c.(616-618)tGg>tAg	p.W206*	DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W206*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	206	Interaction with DNMT1 and DNMT3B.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GCGTGCCAGCCACTCGTCCCG	0.657			"Mis, F, N, S"		AML								T	25497832	C	T	25497832	4	4	662	1	0	0	0	0	0	1	0	0	4715	595	21	2	2273	2	DNMT3A	2	25497832	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		25497832	217701541	5	52615											
RTN4	57142	broad.mit.edu	37	chr2	55253414	55253416	+	In_Frame_Del	DEL	AGG	AGG	-																															atgtcaggcaaaactggtgaAggagtagcttctgactcttc																										TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:55253414_55253416delAGG	ENST00000337526.6	-	3	2062_2064	c.1819_1821delCCT	c.(1819-1821)cctdel	p.P607del	RTN4_ENST00000354474.6_In_Frame_Del_p.P375del|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000404909.1_In_Frame_Del_p.P401del|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000357376.3_In_Frame_Del_p.P401del|RTN4_ENST00000394611.2_In_Frame_Del_p.P401del|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_In_Frame_Del_p.P401del	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	607					apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						AAACTGGTGAAGGAGTAGCTTCT	0.443													-	55253416	AGG	-	55253414	7	5	662	1	0	1	0	1	0	0	0	0	13819	59	3	0	1823	0	RTN4	2	55253414	In_Frame_Del	DEL	AGG	TCGA-QH-A65X-01A-11D-A32B-08	29755582	55253414	187945959	6	52616											
SFXN5	94097	broad.mit.edu	37	chr2	73188272	73188272	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccactgacctctgacatttgCgggaagaggctgatggccag	9	8	13	11	1	1	4	0	3	1	1	1	5	1	5	3	3	1	1	3	3	1	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:73188272C>T	ENST00000410065.1	-	11	749	c.731G>A	c.(730-732)cGc>cAc	p.R244H	SFXN5_ENST00000272433.2_Silent_p.P311P|SFXN5_ENST00000474528.1_5'UTR			Q8TD22	SFXN5_HUMAN	sideroflexin 5	0					iron ion homeostasis	integral to membrane	cation transmembrane transporter activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(2)|prostate(1)	9						CTGACATTTGCGGGAAGAGGC	0.637													T	73188272	C	T	73188272	3	4	662	1	0	0	0	0	1	0	0	0	14291	755	27	1	97	1	SFXN5	2	73188272	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	17934858	73188272	170011101	7	52617											
SLC9A2	6549	broad.mit.edu	37	chr2	103274268	103274268	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgctgtggtagggacacttTggaattccattggcattggg	8	13	14	6	0	0	0	0	0	0	0	1	2	1	2	1	5	1	3	1	5	2	5			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:103274268T>C	ENST00000233969.2	+	2	677	c.535T>C	c.(535-537)Tgg>Cgg	p.W179R		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	179						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						AGGGACACTTTGGAATTCCAT	0.517													C	103274268	T	C	103274268	3	2	662	1	0	0	0	0	1	0	0	0	14806	1812	63	3	541	3	SLC9A2	2	103274268	Missense_Mutation	SNP	T	TCGA-QH-A65X-01A-11D-A32B-08	30085996	103274268	139925105	8	52618											
CXCR1	3577	broad.mit.edu	37	chr2	219029665	219029665	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcggcccagatgggcaaggtCagggcaaagagtaggtcggc	10	4	18	9	2	1	2	1	0	0	2	2	2	1	2	1	6	0	3	1	6	3	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr2:219029665C>T	ENST00000295683.2	-	2	390	c.270G>A	c.(268-270)ctG>ctA	p.L90L		NM_000634.2	NP_000625.1	P25024	CXCR1_HUMAN	chemokine (C-X-C motif) receptor 1	90					dendritic cell chemotaxis|inflammatory response	integral to membrane|plasma membrane	interleukin-8 receptor activity			endometrium(1)|large_intestine(2)|lung(7)|prostate(3)	13						TGGGCAAGGTCAGGGCAAAGA	0.557													T	219029665	C	T	219029665	2	4	662	1	0	0	0	0	0	0	0	1	4123	813	29	2		2	CXCR1	2	219029665	Silent	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	115755397	219029665	24169708	9	52619											
MED12L	116931	broad.mit.edu	37	chr3	151129236	151129236	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacagattcagcagcagccGagtggctatgttcagcagca	12	7	12	10	1	2	2	2	0	0	2	2	3	2	2	1	1	5	6	1	1	1	3			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr3:151129236G>A	ENST00000474524.1	+	39	6014	c.5976G>A	c.(5974-5976)ccG>ccA	p.P1992P	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1992	Gln-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			AGCAGCAGCCGAGTGGCTATG	0.542													A	151129236	G	A	151129236	2	1	662	1	0	0	0	0	0	0	0	1	9504	1045	37	1		1	MED12L	3	151129236	Silent	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		151129236	46893194	10	52620											
ARSK	153642	broad.mit.edu	37	chr5	94927146	94927146	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaattagatcttcttcagAaaactattgtcatatactcc	14	15	3	9	0	5	2	3	0	2	2	6	2	6	2	1	0	2	0	1	0	7	7			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr5:94927146A>G	ENST00000380009.4	+	6	1118	c.913A>G	c.(913-915)Aaa>Gaa	p.K305E		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	305						extracellular region	arylsulfatase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		TCTTCTTCAGAAAACTATTGT	0.368													G	94927146	A	G	94927146	3	3	662	1	0	0	0	0	1	0	0	0	1001	247	9	3	935	3	ARSK	5	94927146	Missense_Mutation	SNP	A	TCGA-QH-A65X-01A-11D-A32B-08		94927146	85988114	11	52621											
COL12A1	1303	broad.mit.edu	37	chr6	75844499	75844499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaggatacagagaggataCggtgatagtgtaaggagtgt	14	9	15	3	1	1	2	1	1	0	1	1	6	1	5	0	4	2	1	0	4	4	4			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:75844499C>T	ENST00000322507.8	-	32	5776	c.5467G>A	c.(5467-5469)Gta>Ata	p.V1823I	COL12A1_ENST00000416123.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000483888.2_Missense_Mutation_p.V1823I|COL12A1_ENST00000345356.6_Missense_Mutation_p.V659I	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	1823	Fibronectin type-III 13.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						AGAGAGGATACGGTGATAGTG	0.468													T	75844499	C	T	75844499	3	4	662	1	0	0	0	0	1	0	0	0	3700	536	19	1	3864	1	COL12A1	6	75844499	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		75844499	95270568	12	52622											
SYNE1	23345	broad.mit.edu	37	chr6	152652511	152652511	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggcccactaagtcactgaGacaattcacgtggctttgtg	9	11	10	11	1	2	1	2	1	0	1	2	2	2	1	1	2	0	1	1	2	2	3			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr6:152652511G>A	ENST00000367255.5	-	78	13910	c.13309C>T	c.(13309-13311)Ctc>Ttc	p.L4437F	SYNE1_ENST00000448038.1_Missense_Mutation_p.L4366F|SYNE1_ENST00000341594.5_Missense_Mutation_p.L4302F|SYNE1_ENST00000265368.4_Missense_Mutation_p.L4437F|SYNE1_ENST00000423061.1_Missense_Mutation_p.L4366F	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4437					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)		AAGTCACTGAGACAATTCACG	0.493										HNSCC(10;0.0054)			A	152652511	G	A	152652511	3	1	662	1	0	0	0	0	1	0	0	0	15542	942	33	2	13433	2	SYNE1	6	152652511	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	76808012	152652511	18462556	13	52623											
NUDT18	79873	broad.mit.edu	37	chr8	21965771	21965771	+	Frame_Shift_Del	DEL	G	G	-																															cgctgcagcgcctccacgatGgtctcccctggctccattct																										TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr8:21965771delG	ENST00000309188.6	-	4	367	c.249delC	c.(247-249)accfs	p.T83fs	NUDT18_ENST00000522405.1_Frame_Shift_Del_p.T6fs|NUDT18_ENST00000521807.2_3'UTR	NM_024815.3	NP_079091.3	Q6ZVK8	NUD18_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 18	83	Nudix hydrolase.						hydrolase activity|metal ion binding|protein binding			breast(1)|central_nervous_system(1)|lung(2)	4				Colorectal(74;0.00185)|COAD - Colon adenocarcinoma(73;0.0608)|READ - Rectum adenocarcinoma(5;0.0986)		CCTCCACGATGGTCTCCCCTG	0.677													-	21965771	G	-	21965771	7	5	662	1	0	1	0	1	0	0	0	0	10811	1335	47	0	730	0	NUDT18	8	21965771	Frame_Shift_Del	DEL	G	TCGA-QH-A65X-01A-11D-A32B-08		21965771	124398251	14	52624											
PTPRD	5789	broad.mit.edu	37	chr9	8518239	8518242	+	Frame_Shift_Del	DEL	ACTT	ACTT	-																															aattcataatccgagtagggActtagtccagcgacactgta																										TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr9:8518239_8518242delACTT	ENST00000381196.4	-	18	1692_1695	c.1149_1152delAAGT	c.(1147-1152)ctaagtfs	p.LS383fs	PTPRD_ENST00000397617.3_Frame_Shift_Del_p.LS373fs|PTPRD_ENST00000360074.4_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000355233.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000540109.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000356435.5_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397611.3_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000537002.1_Frame_Shift_Del_p.LS380fs|PTPRD_ENST00000358503.5_Frame_Shift_Del_p.LS370fs|PTPRD_ENST00000486161.1_Frame_Shift_Del_p.LS383fs|PTPRD_ENST00000397606.3_Frame_Shift_Del_p.LS373fs	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	383	Fibronectin type-III 1.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		CCGAGTAGGGACTTAGTCCAGCGA	0.461										TSP Lung(15;0.13)			-	8518242	ACTT	-	8518239	7	5	662	1	0	1	0	1	0	0	0	0	12887	272	10	0	4758	0	PTPRD	9	8518239	Frame_Shift_Del	DEL	ACTT	TCGA-QH-A65X-01A-11D-A32B-08		8518239	132695192	15	52625											
ENTPD1	953	broad.mit.edu	37	chr10	97605324	97605325	+	Frame_Shift_Del	DEL	CT	CT	-																															gctatgggaaggatcaggcaCtctggcagaaactggccaag																								rs140773352		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr10:97605324_97605325delCT	ENST00000371203.5	+	5	957_958	c.370_371delCT	c.(370-372)ctcfs	p.L124fs	RP11-429G19.3_ENST00000433113.1_RNA|ENTPD1_ENST00000539125.1_Frame_Shift_Del_p.L124fs|ENTPD1_ENST00000371207.3_Frame_Shift_Del_p.L274fs|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000543964.1_Frame_Shift_Del_p.L154fs|ENTPD1_ENST00000453258.2_Frame_Shift_Del_p.L269fs|ENTPD1_ENST00000371205.4_Frame_Shift_Del_p.L262fs	NM_001164179.1|NM_001164182.1|NM_001776.5	NP_001157651.1|NP_001157654.1|NP_001767.3	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	262					cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		GGATCAGGCACTCTGGCAGAAA	0.5													-	97605325	CT	-	97605324	7	5	662	1	0	1	0	1	0	0	0	0	5179	565	20	0	903	0	ENTPD1	10	97605324	Frame_Shift_Del	DEL	CT	TCGA-QH-A65X-01A-11D-A32B-08		97605324	37929423	16	52626											
ANO9	338440	broad.mit.edu	37	chr11	429619	429619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgcaggaccacgcgggcgCgctgccgcttccagatctcc	6	6	13	16	5	1	1	0	0	1	1	3	2	2	2	4	2	2	3	4	2	0	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr11:429619C>T	ENST00000332826.6	-	11	950	c.866G>A	c.(865-867)cGc>cAc	p.R289H		NM_001012302.2	NP_001012302	A1A5B4	ANO9_HUMAN	anoctamin 9	289						chloride channel complex	chloride channel activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|lung(5)|ovary(1)|prostate(4)|skin(4)	21						CACGCGGGCGCGCTGCCGCTT	0.687													T	429619	C	T	429619	3	4	662	1	0	0	0	0	1	0	0	0	704	768	27	1	1534	1	ANO9	11	429619	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		429619	134576897	17	52627											
SYT1	6857	broad.mit.edu	37	chr12	79837981	79837981	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgaagtaccttttgaacaaAtccaggtaatgtcaaacata	16	12	6	7	0	1	2	1	2	0	0	2	2	2	2	2	1	3	2	2	1	7	6			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr12:79837981A>G	ENST00000261205.4	+	10	1714	c.1057A>G	c.(1057-1059)Atc>Gtc	p.I353V	SYT1_ENST00000457153.2_Missense_Mutation_p.I350V|RP1-78O14.1_ENST00000550268.1_lincRNA|SYT1_ENST00000393240.3_Missense_Mutation_p.I353V|SYT1_ENST00000552744.1_Missense_Mutation_p.I353V	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	353	C2 2.|Phospholipid binding (Probable).				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TTTTGAACAAATCCAGGTAAT	0.358													G	79837981	A	G	79837981	3	3	662	1	0	0	0	0	1	0	0	0	15562	101	4	3	1083	3	SYT1	12	79837981	Missense_Mutation	SNP	A	TCGA-QH-A65X-01A-11D-A32B-08		79837981	54013914	18	52628											
NUFIP1	26747	broad.mit.edu	37	chr13	45517620	45517620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcttggttcgaataacGtttgatagttgtgataatct	9	18	10	4	2	2	2	0	2	2	0	3	3	2	2	0	1	1	4	0	1	4	8	rs115794259	byFrequency	TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr13:45517620G>A	ENST00000379161.4	-	9	1374	c.1328C>T	c.(1327-1329)aCg>aTg	p.T443M		NM_012345.2	NP_036477.2	Q9UHK0	NUFP1_HUMAN	nuclear fragile X mental retardation protein interacting protein 1	443					box C/D snoRNP assembly|positive regulation of transcription from RNA polymerase II promoter|RNA processing	actin cytoskeleton|cytosolic ribosome|nuclear matrix|nucleolus|perichromatin fibrils|pre-snoRNP complex|presynaptic active zone|transcription elongation factor complex	DNA binding|identical protein binding|protein binding, bridging|RNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(2)|large_intestine(2)|lung(4)|prostate(4)|skin(3)	18		Lung NSC(96;8.23e-05)|Breast(139;0.00378)|Prostate(109;0.0107)|all_hematologic(4;0.014)|Lung SC(185;0.0262)|Hepatocellular(98;0.0524)|Acute lymphoblastic leukemia(4;0.143)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000306)|BRCA - Breast invasive adenocarcinoma(63;0.125)		TTCGAATAACGTTTGATAGTT	0.333													A	45517620	G	A	45517620	3	1	662	1	0	0	0	0	1	0	0	0	10824	1145	40	1	167	1	NUFIP1	13	45517620	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		45517620	69652258	19	52629											
PACS2	23241	broad.mit.edu	37	chr14	105818792	105818794	+	In_Frame_Del	DEL	CTT	CTT	-																															gagacagacctggccctgacCttctccttgcaggtgagtct																										TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr14:105818792_105818794delCTT	ENST00000447393.1	+	3	460_462	c.285_287delCTT	c.(283-288)accttc>acc	p.F96del	PACS2_ENST00000325438.8_In_Frame_Del_p.F96del|PACS2_ENST00000458164.2_In_Frame_Del_p.F96del|PACS2_ENST00000547217.1_Intron|PACS2_ENST00000430725.2_In_Frame_Del_p.F29del	NM_015197.3	NP_056012.2	Q86VP3	PACS2_HUMAN	phosphofurin acidic cluster sorting protein 2	96					apoptosis|interspecies interaction between organisms	endoplasmic reticulum lumen|mitochondrion				endometrium(2)|kidney(2)|lung(7)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	21		all_cancers(154;0.0351)|all_epithelial(191;0.153)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.0145)|Epithelial(46;0.036)	Epithelial(152;0.138)		TGGCCCTGACCTTCTCCTTGCAG	0.606											OREG0022968	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	105818794	CTT	-	105818792	7	5	662	1	0	1	0	1	0	0	0	0	11449	668	24	0	295	0	PACS2	14	105818792	In_Frame_Del	DEL	CTT	TCGA-QH-A65X-01A-11D-A32B-08		105818792	1530748	20	52630											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	662	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		90631838	11899554	21	52631											
KCTD5	54442	broad.mit.edu	37	chr16	2747985	2747985	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caaaattagagaacgagacaGcaaaacatcgcaggtgagac	19	4	10	8	2	0	3	0	1	0	3	1	6	0	3	0	1	3	2	0	1	6	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:2747985G>A	ENST00000301738.4	+	3	514	c.440G>A	c.(439-441)aGc>aAc	p.S147N	KCTD5_ENST00000564195.1_Intron	NM_018992.3	NP_061865.1	Q9NXV2	KCTD5_HUMAN	potassium channel tetramerization domain containing 5	147					interspecies interaction between organisms	cytosol|nucleus|voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2						GAACGAGACAGCAAAACATCG	0.438													A	2747985	G	A	2747985	3	1	662	1	0	0	0	0	1	0	0	0	8170	971	34	2	450	2	KCTD5	16	2747985	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		2747985	87606768	22	52632											
MARVELD3	91862	broad.mit.edu	37	chr16	71668160	71668160	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctgcagctctgtgtcttaCagttccacagggggctacac	7	10	11	13	0	2	0	0	0	2	0	3	0	3	0	2	2	4	4	2	2	2	3			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr16:71668160C>A	ENST00000268485.3	+	3	704	c.660C>A	c.(658-660)taC>taA	p.Y220*	MARVELD3_ENST00000565261.1_Intron|MARVELD3_ENST00000299952.4_Intron|MARVELD3_ENST00000567501.1_Missense_Mutation_p.Q34K	NM_052858.4	NP_443090.4	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	220	MARVEL.					integral to membrane				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				CTGTGTCTTACAGTTCCACAG	0.532													A	71668160	C	A	71668160	4	1	662	1	0	0	0	0	0	1	0	0	9394	489	17	4	670	4	MARVELD3	16	71668160	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	68920175	71668160	18686593	23	52633											
SERPINB3	6317	broad.mit.edu	37	chr18	61323094	61323094	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtaggactccagatagcaCgagaccgcggctcccggtca	9	6	13	13	4	1	2	1	0	0	2	3	4	3	3	3	3	1	3	3	3	2	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr18:61323094C>T	ENST00000283752.5	-	8	1113	c.970G>A	c.(970-972)Gtg>Atg	p.V324M	SERPINB11_ENST00000489748.1_RNA|SERPINB3_ENST00000332821.8_Missense_Mutation_p.V272M	NM_006919.2	NP_008850.1	P29508	SPB3_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 3	324					regulation of proteolysis	cytoplasm|extracellular region	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	36						CCAGATAGCACGAGACCGCGG	0.547													T	61323094	C	T	61323094	3	4	662	1	0	0	0	0	1	0	0	0	14195	536	19	1	206	1	SERPINB3	18	61323094	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		61323094	16754154	24	52634											
GRIN3B	116444	broad.mit.edu	37	chr19	1005263	1005263	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgcggccctgcacctcaCcgcgctcttcctcaccgtgt	3	11	8	19	4	3	0	2	0	1	0	4	0	4	0	5	1	2	2	5	1	0	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:1005263C>T	ENST00000234389.3	+	3	1782	c.1763C>T	c.(1762-1764)aCc>aTc	p.T588I	GRIN3B_ENST00000588335.1_3'UTR	NM_138690.1	NP_619635.1	O60391	NMD3B_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3B	588					ionotropic glutamate receptor signaling pathway|protein insertion into membrane|regulation of calcium ion transport	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|ionotropic glutamate receptor activity|neurotransmitter receptor activity			breast(1)|kidney(1)|lung(7)|prostate(1)|upper_aerodigestive_tract(1)	11		Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;0.000226)|all_lung(49;0.000353)|Breast(49;0.00066)		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)	Glycine(DB00145)|L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	CTGCACCTCACCGCGCTCTTC	0.662													T	1005263	C	T	1005263	3	4	662	1	0	0	0	0	1	0	0	0	6839	507	18	2	1773	2	GRIN3B	19	1005263	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		1005263	58123720	25	52635											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000160740.3_Missense_Mutation_p.R1510H|CIC_ENST00000575354.2_Missense_Mutation_p.R1512H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								A	42799051	G	A	42799051	3	1	662	1	0	0	0	0	1	0	0	0	3454	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08	41793788	42799051	16329932	26	52636											
TFAP2C	7022	broad.mit.edu	37	chr20	55211767	55211767	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagacctcatcttggaggaCgaaatgagatggcagctagg	12	7	13	9	1	2	2	1	1	1	2	2	6	2	4	2	4	1	2	2	4	2	2			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chr20:55211767C>T	ENST00000201031.2	+	6	1267	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TFAP2C_ENST00000544508.1_Nonsense_Mutation_p.R173*	NM_003222.3	NP_003213.1	Q92754	AP2C_HUMAN	transcription factor AP-2 gamma (activating enhancer binding protein 2 gamma)	342	H-S-H (helix-span-helix), dimerization.				cell-cell signaling|male gonad development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	13			Colorectal(105;0.229)			TCTTGGAGGACGAAATGAGAT	0.443													T	55211767	C	T	55211767	4	4	662	1	0	0	0	0	0	1	0	0	15889	528	19	1	1046	1	TFAP2C	20	55211767	Nonsense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08		55211767	7813753	27	52637											
ZXDB	158586	broad.mit.edu	37	chrX	57618946	57618946	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggttcccactccggccccGatctccgcccccggccccgc	2	5	10	24	6	1	0	0	0	1	0	4	1	3	0	9	3	0	1	9	3	0	1			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:57618946G>A	ENST00000374888.1	+	1	678	c.465G>A	c.(463-465)ccG>ccA	p.P155P		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	155					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						ctccggccccgatctccgccc	0.741													A	57618946	G	A	57618946	2	1	662	1	0	0	0	0	0	0	0	1	18348	1045	37	1		1	ZXDB	23	57618946	Silent	SNP	G	TCGA-QH-A65X-01A-11D-A32B-08		57618946	97651614	28	52638											
VSIG1	340547	broad.mit.edu	37	chrX	107288369	107288369	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctccacacaatggtgttCgcattttggaaggtctttct	9	14	8	10	1	2	0	0	0	2	0	4	1	3	1	2	3	1	2	2	3	3	4			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:107288369C>T	ENST00000415430.3	+	1	170	c.9C>T	c.(7-9)ttC>ttT	p.F3F	VSIG1_ENST00000217957.5_Silent_p.F3F	NM_001170553.1	NP_001164024.1	Q86XK7	VSIG1_HUMAN	V-set and immunoglobulin domain containing 1	3						integral to membrane				breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	17						CAATGGTGTTCGCATTTTGGA	0.448													T	107288369	C	T	107288369	2	4	662	1	0	0	0	0	0	0	0	1	17324	883	31	1		1	VSIG1	23	107288369	Silent	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	49669423	107288369	47982191	29	52639											
ARHGAP36	158763	broad.mit.edu	37	chrX	130220336	130220336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagaggcaggttgctaagCgcgtgtggaagtccagcccg	8	8	15	10	3	1	1	1	0	0	1	2	2	2	2	2	3	3	3	2	3	2	3			TCGA-QH-A65X-01A-11D-A32B-08	TCGA-QH-A65X-10D-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	32544a75-ede9-469c-a607-f954f919b504	f07e106d-56c9-4bc8-8ab6-10829e09a840	g.chrX:130220336C>T	ENST00000276211.5	+	10	1660	c.1315C>T	c.(1315-1317)Cgc>Tgc	p.R439C	ARHGAP36_ENST00000370921.1_Missense_Mutation_p.R303C|ARHGAP36_ENST00000370922.1_Missense_Mutation_p.R427C	NM_144967.3	NP_659404.2	Q6ZRI8	RHG36_HUMAN	Rho GTPase activating protein 36	439					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	p.R439C(1)		breast(1)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(16)|lung(31)|ovary(4)|prostate(4)|skin(3)|urinary_tract(2)	71						GGTTGCTAAGCGCGTGTGGAA	0.453													T	130220336	C	T	130220336	3	4	662	1	0	0	0	0	1	0	0	0	886	768	27	1	1349	1	ARHGAP36	23	130220336	Missense_Mutation	SNP	C	TCGA-QH-A65X-01A-11D-A32B-08	22931967	130220336	25050224	30	52640											
EXTL1	2134	broad.mit.edu	37	chr1	26349229	26349229	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggcttctcccttctccGcctggcattgcctcccagac	4	10	10	17	1	2	1	0	0	2	1	5	2	3	2	5	3	1	2	5	3	0	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:26349229G>A	ENST00000374280.3	+	1	959	c.92G>A	c.(91-93)cGc>cAc	p.R31H		NM_004455.2	NP_004446.2	Q92935	EXTL1_HUMAN	exostosin-like glycosyltransferase 1	31					skeletal system development	integral to membrane|intrinsic to endoplasmic reticulum membrane	glucuronosyl-N-acetylglucosaminyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|stomach(1)|urinary_tract(1)	23		Colorectal(325;3.46e-05)|Lung NSC(340;6.18e-05)|all_lung(284;9.43e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;6.44e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00594)|READ - Rectum adenocarcinoma(331;0.0649)		TCCCTTCTCCGCCTGGCATTG	0.657													A	26349229	G	A	26349229	3	1	663	1	0	0	0	0	1	0	0	0	5367	1087	38	1	94	1	EXTL1	1	26349229	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		26349229	222901392	1	52641											
G0S2	50486	broad.mit.edu	37	chr1	209849305	209849305	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggacacggtcctcggCggccgggccctgtccaaccg	6	4	14	17	5	0	0	0	0	0	0	3	1	2	1	5	5	2	1	5	5	1	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:209849305C>T	ENST00000367029.4	+	2	438	c.276C>T	c.(274-276)ggC>ggT	p.G92G	RP1-28O10.1_ENST00000441672.1_RNA	NM_015714.3	NP_056529.1	P27469	G0S2_HUMAN	G0/G1switch 2	92					cell cycle					large_intestine(2)	2				OV - Ovarian serous cystadenocarcinoma(81;0.041)		CGGTCCTCGGCGGCCGGGCCC	0.667													T	209849305	C	T	209849305	2	4	663	1	0	0	0	0	0	0	0	1	6191	755	27	1		1	G0S2	1	209849305	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	183500076	209849305	39401316	2	52642											
RYR2	6262	broad.mit.edu	37	chr1	237957283	237957283	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggccagtgggatagactCgtaatcaacacacagtgagt	15	7	11	8	1	1	2	1	1	0	1	2	3	1	3	1	2	1	1	1	2	4	2			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr1:237957283C>T	ENST00000366574.2	+	95	14216	c.13899C>T	c.(13897-13899)ctC>ctT	p.L4633L	RYR2_ENST00000542537.1_Silent_p.L4617L|RYR2_ENST00000360064.6_Silent_p.L4639L	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4633					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GGGATAGACTCGTAATCAACA	0.363													T	237957283	C	T	237957283	2	4	663	1	0	0	0	0	0	0	0	1	13860	871	31	1		1	RYR2	1	237957283	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28107978	237957283	11293338	3	52643											
FZD7	8324	broad.mit.edu	37	chr2	202900715	202900715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggcttcgtgtccctcttcCgtatccgcaccatcatgaaa	7	11	7	16	4	2	1	1	1	1	0	6	1	5	1	5	1	0	3	5	1	2	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:202900715C>T	ENST00000286201.1	+	1	1406	c.1345C>T	c.(1345-1347)Cgt>Tgt	p.R449C		NM_003507.1	NP_003498.1	O75084	FZD7_HUMAN	frizzled family receptor 7	449					axonogenesis|brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|mesenchymal to epithelial transition|negative regulation of cell-substrate adhesion|negative regulation of ectodermal cell fate specification|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent|regulation of catenin import into nucleus|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|endometrium(6)|large_intestine(6)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	31						GTCCCTCTTCCGTATCCGCAC	0.612											OREG0015146	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	202900715	C	T	202900715	3	4	663	1	0	0	0	0	1	0	0	0	6187	652	23	1	1347	1	FZD7	2	202900715	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		202900715	40298658	4	52644											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	663	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	6212397	209113112	34086261	5	52645											
MAP2	4133	broad.mit.edu	37	chr2	210560876	210560878	+	In_Frame_Del	DEL	GAA	GAA	-																															ggagaccatctcctcatgatGaagaagagtttgaagtagaa																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr2:210560876_210560878delGAA	ENST00000360351.4	+	7	4488_4490	c.3982_3984delGAA	c.(3982-3984)gaadel	p.E1330del	MAP2_ENST00000361559.4_Intron|MAP2_ENST00000392194.1_Intron|MAP2_ENST00000447185.1_In_Frame_Del_p.E1326del|MAP2_ENST00000199940.6_Intron	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1330					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	TCCTCATGATGAAGAAGAGTTTG	0.537													-	210560878	GAA	-	210560876	7	5	663	1	0	1	0	1	0	0	0	0	9310	1291	45	0	3996	0	MAP2	2	210560876	In_Frame_Del	DEL	GAA	TCGA-QH-A65Z-01A-11D-A29Q-08	1447764	210560876	32638497	6	52646											
CTNNB1	1499	broad.mit.edu	37	chr3	41275294	41275294	+	Frame_Shift_Del	DEL	T	T	-																															ggcccagaatgcagttcgccTtcactatggactaccagttg																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:41275294delT	ENST00000349496.5	+	9	1740	c.1460delT	c.(1459-1461)cttfs	p.L487fs	CTNNB1_ENST00000396183.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000396185.3_Frame_Shift_Del_p.L487fs|CTNNB1_ENST00000453024.1_Frame_Shift_Del_p.L480fs|CTNNB1_ENST00000405570.1_Frame_Shift_Del_p.L487fs	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	487					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	GCAGTTCGCCTTCACTATGGA	0.493		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				-	41275294	T	-	41275294	7	5	663	1	0	1	0	1	0	0	0	0	4049	1609	56	0	1490	0	CTNNB1	3	41275294	Frame_Shift_Del	DEL	T	TCGA-QH-A65Z-01A-11D-A29Q-08		41275294	156747136	7	52647											
ECT2	1894	broad.mit.edu	37	chr3	172501694	172501694	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaccaagatttcatgcttttCtcaaggtaatgtgtgtttct	10	17	7	7	0	3	1	2	0	2	1	4	1	3	1	1	1	2	3	1	1	4	5			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr3:172501694C>T	ENST00000417960.1	+	16	2104	c.1627C>T	c.(1627-1629)Ctc>Ttc	p.L543F	ECT2_ENST00000232458.5_Missense_Mutation_p.L544F|ECT2_ENST00000427830.1_Missense_Mutation_p.L544F|ECT2_ENST00000441497.2_Missense_Mutation_p.L544F|ECT2_ENST00000540509.1_Missense_Mutation_p.L575F|ECT2_ENST00000392692.3_Missense_Mutation_p.L575F	NM_001258316.1	NP_001245245.1	Q9H8V3	ECT2_HUMAN	epithelial cell transforming sequence 2 oncogene	544	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Ovarian(172;0.00197)|Breast(254;0.158)		Lung(28;1.33e-14)|LUSC - Lung squamous cell carcinoma(14;1.48e-14)			TCATGCTTTTCTCAAGGTAAT	0.274													T	172501694	C	T	172501694	3	4	663	1	0	0	0	0	1	0	0	0	4940	913	32	2	1684	2	ECT2	3	172501694	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	131226400	172501694	25520736	8	52648											
RBM47	54502	broad.mit.edu	37	chr4	40440295	40440295	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggcgagccatggcagccgCgcggtggctctcgtactcca	5	6	15	15	6	1	0	0	0	1	0	3	1	2	0	3	4	3	3	3	4	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:40440295C>T	ENST00000319592.4	-	4	1325	c.616G>A	c.(616-618)Gcg>Acg	p.A206T	RBM47_ENST00000515809.1_Intron|RBM47_ENST00000381793.2_Missense_Mutation_p.A206T|RBM47_ENST00000295971.7_Missense_Mutation_p.A206T|RBM47_ENST00000514014.1_Missense_Mutation_p.A168T|RBM47_ENST00000381795.6_Missense_Mutation_p.A206T			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	206	RRM 2.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						ATGGCAGCCGCGCGGTGGCTC	0.667													T	40440295	C	T	40440295	3	4	663	1	0	0	0	0	1	0	0	0	13229	768	27	1	1181	1	RBM47	4	40440295	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		40440295	150713981	9	52649											
TACR3	6870	broad.mit.edu	37	chr4	104510918	104510918	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagatttggaattcctgcgaGagcagccattgaaacttggg	11	10	12	8	1	0	3	0	1	0	2	1	5	1	4	2	2	4	1	2	2	2	4			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:104510918G>A	ENST00000304883.2	-	5	1459	c.1319C>T	c.(1318-1320)tCt>tTt	p.S440F	RP11-297P16.3_ENST00000502936.1_RNA|RP11-297P16.3_ENST00000512401.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	440						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		ATTCCTGCGAGAGCAGCCATT	0.478													A	104510918	G	A	104510918	3	1	663	1	0	0	0	0	1	0	0	0	15604	942	33	2	82	2	TACR3	4	104510918	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	64070623	104510918	86643358	10	52650											
ABCE1	6059	broad.mit.edu	37	chr4	146044497	146044497	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaaagactgatggcagctcGagttgtcaaacggtaaatat	14	9	11	7	2	1	2	1	1	0	1	2	3	1	2	0	2	2	5	0	2	5	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr4:146044497G>A	ENST00000296577.4	+	15	2020	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	OTUD4_ENST00000455611.2_Intron	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	502	ABC transporter 2.				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					ATGGCAGCTCGAGTTGTCAAA	0.383													A	146044497	G	A	146044497	3	1	663	1	0	0	0	0	1	0	0	0	64	1058	37	1	1559	1	ABCE1	4	146044497	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	41533579	146044497	45109779	11	52651											
SDHA	6389	broad.mit.edu	37	chr5	218471	218471	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggcggcaacagcagacAtgtcgggggtccggggcctg	6	4	19	12	5	0	1	0	0	0	1	2	1	1	1	2	6	2	2	2	6	1	0	rs1061517		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:218471A>G	ENST00000264932.6	+	1	116	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SDHA_ENST00000504309.1_Start_Codon_SNP_p.M1V|SDHA_ENST00000510361.1_Start_Codon_SNP_p.M1V	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	1					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	AACAGCAGACATGTCGGGGGT	0.776									Familial Paragangliomas				G	218471	A	G	218471	1	3	663	1	0	0	0	0	0	0	0	0	14056	217	8	3		3	SDHA	5	218471	Translation_Start_Site	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		218471	180696789	12	52652											
DNAJC21	134218	broad.mit.edu	37	chr5	34950354	34950354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatactaacttaaatcaagAcagtgccaaagaattggaag	19	8	8	6	0	1	3	1	0	0	3	1	4	1	4	1	1	3	0	1	1	8	4			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr5:34950354A>G	ENST00000382021.2	+	11	1627	c.1400A>G	c.(1399-1401)gAc>gGc	p.D467G	DNAJC21_ENST00000342382.4_Missense_Mutation_p.D422G|DNAJC21_ENST00000303525.7_Missense_Mutation_p.D435G|DNAJC21_ENST00000512136.1_3'UTR	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	422					protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TTAAATCAAGACAGTGCCAAA	0.358													G	34950354	A	G	34950354	3	3	663	1	0	0	0	0	1	0	0	0	4679	275	10	3	1442	3	DNAJC21	5	34950354	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	34731883	34950354	145964906	13	52653											
PHF3	23469	broad.mit.edu	37	chr6	64423124	64423124	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcatcaaggtatataggCccgcagaatttttaccaggt	13	10	9	9	1	1	1	1	0	0	1	1	1	1	1	2	3	2	3	2	3	7	6			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr6:64423124C>G	ENST00000262043.3	+	16	5980	c.5640C>G	c.(5638-5640)ggC>ggG	p.G1880G	PHF3_ENST00000393387.1_Silent_p.G1880G			Q92576	PHF3_HUMAN	PHD finger protein 3	1880					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GGTATATAGGCCCGCAGAATT	0.507													G	64423124	C	G	64423124	2	3	663	1	0	0	0	0	0	0	0	1	11913	726	26	4		4	PHF3	6	64423124	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		64423124	106691943	14	52654											
TNS3	64759	broad.mit.edu	37	chr7	47408297	47408297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagggggatgtggcccaCtgcctacacccctctggaca	7	8	12	14	0	2	0	1	0	1	0	2	2	2	2	4	4	2	0	4	4	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:47408297C>G	ENST00000398879.1	-	17	2312	c.1946G>C	c.(1945-1947)aGt>aCt	p.S649T	TNS3_ENST00000311160.9_Missense_Mutation_p.S649T|TNS3_ENST00000355730.3_Missense_Mutation_p.S409T			Q68CZ2	TENS3_HUMAN	tensin 3	649						focal adhesion	protein binding			NS(1)|autonomic_ganglia(1)|breast(17)|endometrium(5)|kidney(4)|large_intestine(7)|liver(1)|lung(16)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	64						ATGTGGCCCACTGCCTACACC	0.642													G	47408297	C	G	47408297	3	3	663	1	0	0	0	0	1	0	0	0	16444	565	20	4	2451	4	TNS3	7	47408297	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		47408297	111730366	15	52655											
SLC26A4	5172	broad.mit.edu	37	chr7	107314667	107314667	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgagcatggcccccgaCgaacactttctcgtatccag	8	10	9	14	3	2	1	0	1	2	0	4	3	3	1	3	1	2	3	3	1	2	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr7:107314667C>T	ENST00000265715.3	+	5	698	c.474C>T	c.(472-474)gaC>gaT	p.D158D		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	158					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						TGGCCCCCGACGAACACTTTC	0.433									Pendred syndrome				T	107314667	C	T	107314667	2	4	663	1	0	0	0	0	0	0	0	1	14613	535	19	1		1	SLC26A4	7	107314667	Silent	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	59906370	107314667	51823996	16	52656											
SGK223	157285	broad.mit.edu	37	chr8	8234817	8234819	+	In_Frame_Del	DEL	TCA	TCA	-																															cttctctggggcaggttcctTcatgagggagcagtaatcac																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr8:8234817_8234819delTCA	ENST00000520004.1	-	3	1364_1366	c.1100_1102delTGA	c.(1099-1104)atgaag>aag	p.M367del	SGK223_ENST00000330777.4_In_Frame_Del_p.M367del			Q86YV5	SG223_HUMAN		367							ATP binding|non-membrane spanning protein tyrosine kinase activity										GCAGGTTCCTTCATGAGGGAGCA	0.68													-	8234819	TCA	-	8234817	7	5	663	1	0	1	0	1	0	0	0	0	14303	1792	62	0	3122	0	SGK223	8	8234817	In_Frame_Del	DEL	TCA	TCGA-QH-A65Z-01A-11D-A29Q-08		8234817	138129205	17	52657											
CREB3	10488	broad.mit.edu	37	chr9	35736644	35736644	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcccatcctccccctgcAggcaaatctcacaaggaagg	11	6	9	15	0	1	0	1	0	1	0	5	1	4	1	4	4	1	2	4	4	3	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:35736644A>C	ENST00000353704.2	+	9	1475	c.1037A>C	c.(1036-1038)cAg>cCg	p.Q346P	CREB3_ENST00000486056.1_3'UTR	NM_006368.4	NP_006359.3	O43889	CREB3_HUMAN	cAMP responsive element binding protein 3	370	Pro-rich.				chemotaxis|induction of positive chemotaxis|interspecies interaction between organisms|negative regulation of cell cycle|positive regulation of calcium ion transport|positive regulation of cell migration|positive regulation of transcription, DNA-dependent|reactivation of latent virus|regulation of cell proliferation	cytosol|endoplasmic reticulum|endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|nucleus	cAMP response element binding protein binding|CCR1 chemokine receptor binding|DNA binding|protein dimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|urinary_tract(1)	9	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)	GBM - Glioblastoma multiforme(74;0.0285)		CTCCCCCTGCAGGCAAATCTC	0.567											OREG0019176	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	35736644	A	C	35736644	3	2	663	1	0	0	0	0	1	0	0	0	3886	188	7	5	1071	5	CREB3	9	35736644	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		35736644	105476787	18	52658											
SVEP1	79987	broad.mit.edu	37	chr9	113194246	113194246	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggacacatgaacatatgtAggatccatctacgttcaggc	12	10	10	9	1	2	1	1	1	1	0	3	3	3	3	1	3	2	2	1	3	4	4			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr9:113194246A>G	ENST00000401783.2	-	32	5638	c.5302T>C	c.(5302-5304)Tac>Cac	p.Y1768H	SVEP1_ENST00000374469.1_Missense_Mutation_p.Y1745H	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1768	EGF-like 7; calcium-binding (Potential).				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GAACATATGTAGGATCCATCT	0.378													G	113194246	A	G	113194246	3	3	663	1	0	0	0	0	1	0	0	0	15516	420	15	3	5481	3	SVEP1	9	113194246	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	77457602	113194246	28019185	19	52659											
CNNM1	26507	broad.mit.edu	37	chr10	101124220	101124220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaaggccttcgctttgaaaAtggagcctttacttactatg	10	13	10	8	1	0	1	0	1	0	0	1	3	0	3	2	3	3	1	2	3	6	6			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr10:101124220A>G	ENST00000356713.4	+	5	2364	c.2075A>G	c.(2074-2076)aAt>aGt	p.N692S	CNNM1_ENST00000446890.1_Missense_Mutation_p.N621S|CNNM1_ENST00000370534.4_Missense_Mutation_p.N327S|CNNM1_ENST00000370528.3_Missense_Mutation_p.N621S	NM_020348.2	NP_065081.2	Q9NRU3	CNNM1_HUMAN	cyclin M1	692					ion transport	integral to membrane|plasma membrane				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(5)|ovary(1)|prostate(1)|skin(1)	25		Colorectal(252;0.234)		Epithelial(162;6.82e-10)|all cancers(201;5.62e-08)		CGCTTTGAAAATGGAGCCTTT	0.423													G	101124220	A	G	101124220	3	3	663	1	0	0	0	0	1	0	0	0	3643	101	4	3	2093	3	CNNM1	10	101124220	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		101124220	34410527	20	52660											
ACACB	32	broad.mit.edu	37	chr12	109616926	109616926	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccaggctcgcccatctttCtcatgaagctggcccagcac	7	9	8	17	1	2	1	1	1	2	0	5	1	3	1	3	2	2	3	3	2	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr12:109616926C>G	ENST00000338432.7	+	10	1590	c.1471C>G	c.(1471-1473)Ctc>Gtc	p.L491V	ACACB_ENST00000377854.5_Missense_Mutation_p.L491V|ACACB_ENST00000543080.1_3'UTR|ACACB_ENST00000377848.3_Missense_Mutation_p.L491V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	491	ATP-grasp.|Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GCCCATCTTTCTCATGAAGCT	0.562													G	109616926	C	G	109616926	3	3	663	1	0	0	0	0	1	0	0	0	107	913	32	4	1505	4	ACACB	12	109616926	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08		109616926	24234969	21	52661											
RBBP6	5930	broad.mit.edu	37	chr16	24567746	24567747	+	Frame_Shift_Ins	INS	-	-	A																															gcttaccaacactggaaaatINSatgcaataccaactatagat																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:24567746_24567747insA	ENST00000319715.4	+	7	1084_1085	c.652_653insA	c.(652-654)tatfs	p.Y218fs	RBBP6_ENST00000381039.3_Frame_Shift_Ins_p.Y218fs|RBBP6_ENST00000348022.2_Frame_Shift_Ins_p.Y218fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	218					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		CACTGGAAAATATGCAATACCA	0.401													A	24567747	-	A	24567746	7	5	663	1	0	1	1	0	0	0	0	0	13191	1406	49	0	732	0	RBBP6	16	24567746	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08		24567746	65787007	22	52662											
ACSF3	197322	broad.mit.edu	37	chr16	89180794	89180794	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcccctcccagtgctggagaAgtggaagaacatcacgggcc	10	5	13	13	1	1	2	1	0	0	2	2	4	2	3	4	3	2	1	4	3	3	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr16:89180794A>G	ENST00000317447.4	+	6	1402	c.1025A>G	c.(1024-1026)aAg>aGg	p.K342R	CTD-2555A7.3_ENST00000562782.1_RNA|ACSF3_ENST00000378345.4_Missense_Mutation_p.K77R|ACSF3_ENST00000406948.3_Missense_Mutation_p.K342R	NM_001127214.2|NM_001243279.1|NM_001284316.1|NM_174917.3	NP_001120686.1|NP_001230208.1|NP_001271245.1|NP_777577.2	Q4G176	ACSF3_HUMAN	acyl-CoA synthetase family member 3	342					fatty acid metabolic process	mitochondrion	acid-thiol ligase activity|ATP binding			central_nervous_system(1)|endometrium(1)|kidney(2)|lung(9)|prostate(1)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(80;0.0281)		GTGCTGGAGAAGTGGAAGAAC	0.647													G	89180794	A	G	89180794	3	3	663	1	0	0	0	0	1	0	0	0	176	72	3	3	1039	3	ACSF3	16	89180794	Missense_Mutation	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	64613048	89180794	1173959	23	52663											
MED24	9862	broad.mit.edu	37	chr17	38188968	38188968	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagactcaatgagccccacGaagcaagctttccagatctc	12	7	9	13	1	2	3	1	1	1	2	4	5	3	3	3	1	3	2	3	1	3	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:38188968G>T	ENST00000394126.1	-	8	1363	c.945C>A	c.(943-945)ttC>ttA	p.F315L	MED24_ENST00000501516.3_Missense_Mutation_p.F309L|MED24_ENST00000356271.3_Missense_Mutation_p.F277L|MED24_ENST00000394128.2_Missense_Mutation_p.F290L|MED24_ENST00000394127.2_Missense_Mutation_p.F277L			O75448	MED24_HUMAN	mediator complex subunit 24	290					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			autonomic_ganglia(1)|breast(2)|endometrium(9)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	41	Colorectal(19;0.000442)					TGAGCCCCACGAAGCAAGCTT	0.577													T	38188968	G	T	38188968	3	4	663	1	0	0	0	0	1	0	0	0	9517	1049	37	4	2171	4	MED24	17	38188968	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		38188968	43006242	24	52664											
FAM20A	54757	broad.mit.edu	37	chr17	66533685	66533685	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccgtcgactatgacaCtctgctgtccatgggccact	6	10	11	14	2	1	1	0	1	1	0	3	2	2	1	3	2	1	1	3	2	1	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:66533685C>G	ENST00000592554.1	-	11	2281	c.1559G>C	c.(1558-1560)aGt>aCt	p.S520T	PRKAR1A_ENST00000588188.2_Intron|FAM20A_ENST00000226094.5_5'UTR	NM_001243746.1|NM_017565.3	NP_001230675.1|NP_060035.2	Q96MK3	FA20A_HUMAN	family with sequence similarity 20, member A	520						extracellular region				cervix(1)|endometrium(1)|large_intestine(3)|lung(2)|prostate(1)|stomach(1)	9	Breast(10;1.64e-13)					GACTATGACACTCTGCTGTCC	0.572													G	66533685	C	G	66533685	3	3	663	1	0	0	0	0	1	0	0	0	5584	565	20	4	70	4	FAM20A	17	66533685	Missense_Mutation	SNP	C	TCGA-QH-A65Z-01A-11D-A29Q-08	28344717	66533685	14661525	25	52665											
ZACN	353174	broad.mit.edu	37	chr17	74075804	74075805	+	Frame_Shift_Ins	INS	-	-	CC																															catcctgcgatacacaatgtINScctccatgctgctgcttagg																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr17:74075804_74075805insCC	ENST00000334586.5	+	3	327_328	c.244_245insCC	c.(244-246)tccfs	p.S82fs	ZACN_ENST00000392503.2_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	82					response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						ATACACAATGTCCTCCATGCTG	0.569													CC	74075805	-	CC	74075804	7	5	663	1	0	1	1	0	0	0	0	0	17612	1667	58	0	254	0	ZACN	17	74075804	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	7542119	74075804	7119406	26	52666											
ARRDC5	645432	broad.mit.edu	37	chr19	4891396	4891396	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcgtgaagccctcgtactGtatgtgggcatacagggcga	8	8	16	9	3	0	1	0	1	0	0	1	2	0	1	1	3	3	3	1	3	4	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:4891396G>C	ENST00000381781.2	-	3	690	c.691C>G	c.(691-693)Cag>Gag	p.Q231E		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	231					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CCCTCGTACTGTATGTGGGCA	0.587													C	4891396	G	C	4891396	3	2	663	1	0	0	0	0	1	0	0	0	991	1386	48	4	341	4	ARRDC5	19	4891396	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		4891396	54237587	27	52667											
CIC	23152	broad.mit.edu	37	chr19	42797776	42797777	+	Frame_Shift_Del	DEL	GC	GC	-																															cccagctcatcttcagactgGcgcgtccctgggcagggcct																										TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42797776_42797777delGC	ENST00000572681.2	+	17	6617_6618	c.6549_6550delGC	c.(6547-6552)tggcgcfs	p.R2184fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.R1277fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.R1275fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1277					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTTCAGACTGGCGCGTCCCTGG	0.649			"Mis, F, S"		oligodendroglioma								-	42797777	GC	-	42797776	7	5	663	1	0	1	0	1	0	0	0	0	3454	1212	42	0	3890	0	CIC	19	42797776	Frame_Shift_Del	DEL	GC	TCGA-QH-A65Z-01A-11D-A29Q-08	37906380	42797776	16331207	28	52668											
CIC	23152	broad.mit.edu	37	chr19	42798989	42798990	+	Frame_Shift_Ins	INS	-	-	A																															ctccagcccaggccacagccINSgccttccaggcccgctatgc																								rs148444899		TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:42798989_42798990insA	ENST00000572681.2	+	21	7259_7260	c.7191_7192insA	c.(7192-7194)gccfs	p.A2398fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.A1492fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A1490fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1492					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AGGCCACAGCCGCCTTCCAGGC	0.574			"Mis, F, S"		oligodendroglioma								A	42798990	-	A	42798989	7	5	663	1	0	1	1	0	0	0	0	0	3454	639	23	0	4551	0	CIC	19	42798989	Frame_Shift_Ins	INS	-	TCGA-QH-A65Z-01A-11D-A29Q-08	1213	42798989	16329994	29	52669											
PPP1R13L	10848	broad.mit.edu	37	chr19	45895364	45895364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggggcagggccacagcagggGcctgctccatggagcccctg	6	4	17	14	0	0	0	0	0	0	0	1	1	1	1	5	6	3	3	5	6	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:45895364G>A	ENST00000418234.2	-	8	1667	c.1589C>T	c.(1588-1590)gCc>gTc	p.A530V	PPP1R13L_ENST00000360957.5_Missense_Mutation_p.A530V	NM_001142502.1	NP_001135974.1	Q8WUF5	IASPP_HUMAN	protein phosphatase 1, regulatory subunit 13 like	530	Pro-rich.				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	transcription corepressor activity|transcription factor binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0182)		CACAGCAGGGGCCTGCTCCAT	0.687													A	45895364	G	A	45895364	3	1	663	1	0	0	0	0	1	0	0	0	12440	1203	42	2	921	2	PPP1R13L	19	45895364	Missense_Mutation	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08	3096375	45895364	13233619	30	52670											
PRR12	57479	broad.mit.edu	37	chr19	50100109	50100109	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagccacctccaccgccAcccccgcctccaccacccat	7	3	3	28	2	0	0	0	0	0	0	2	0	2	0	13	0	1	0	13	0	0	0			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr19:50100109A>C	ENST00000418929.2	+	4	2529	c.2517A>C	c.(2515-2517)ccA>ccC	p.P839P		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	18							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CTCCACCGCCACCCCCGCCTC	0.741													C	50100109	A	C	50100109	2	2	663	1	0	0	0	0	0	0	0	1	12670	146	6	5		5	PRR12	19	50100109	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08	4204745	50100109	9028874	31	52671											
LAMA5	3911	broad.mit.edu	37	chr20	60888747	60888747	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacgtagaagacgaagtcGtctggccgcaggttgagcag	10	6	15	10	5	1	3	0	1	1	2	2	5	1	3	2	2	1	4	2	2	3	2			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr20:60888747G>A	ENST00000252999.3	-	63	8682	c.8616C>T	c.(8614-8616)gaC>gaT	p.D2872D		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	2872	Laminin G-like 1.				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	AGACGAAGTCGTCTGGCCGCA	0.662													A	60888747	G	A	60888747	2	1	663	1	0	0	0	0	0	0	0	1	8668	1136	40	1		1	LAMA5	20	60888747	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		60888747	2136773	32	52672											
ITSN1	6453	broad.mit.edu	37	chr21	35183494	35183494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acctcttcagagccctccacGacccctaataactgggccga	10	7	7	17	2	2	1	1	0	1	1	3	3	3	1	6	1	2	0	6	1	2	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr21:35183494G>A	ENST00000381318.3	+	21	2823	c.2535G>A	c.(2533-2535)acG>acA	p.T845T	ITSN1_ENST00000399352.1_Silent_p.T840T|ITSN1_ENST00000399353.1_Silent_p.T803T|ITSN1_ENST00000399338.4_Silent_p.T840T|ITSN1_ENST00000399349.1_Silent_p.T840T|ITSN1_ENST00000399367.3_Silent_p.T840T|ITSN1_ENST00000437442.2_Silent_p.T840T|ITSN1_ENST00000379960.5_Silent_p.T840T|ITSN1_ENST00000381291.4_Silent_p.T845T|AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399355.2_Silent_p.T845T|ITSN1_ENST00000381285.4_Silent_p.T845T|ITSN1_ENST00000399326.3_Silent_p.T840T	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	845					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						AGCCCTCCACGACCCCTAATA	0.547													A	35183494	G	A	35183494	2	1	663	1	0	0	0	0	0	0	0	1	7984	1045	37	1		1	ITSN1	21	35183494	Silent	SNP	G	TCGA-QH-A65Z-01A-11D-A29Q-08		35183494	12946401	33	52673											
MOV10L1	54456	broad.mit.edu	37	chr22	50538030	50538030	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctggagagtgtgtgcgaAggtatgctcaggggtctgtg	6	12	17	6	1	3	1	1	0	2	1	4	3	3	1	0	4	2	2	0	4	2	1			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chr22:50538030A>T	ENST00000395843.1	+	0	443				MOV10L1_ENST00000262794.5_Splice_Site_p.E147D|MOV10L1_ENST00000545383.1_Splice_Site_p.E147D|MOV10L1_ENST00000395858.3_Splice_Site_p.E147D|MOV10L1_ENST00000475190.1_3'UTR|MOV10L1_ENST00000540615.1_Splice_Site_p.E127D			Q9BXT6	M10L1_HUMAN	Mov10l1, Moloney leukemia virus 10-like 1, homolog (mouse)						germ cell development|multicellular organismal development|spermatogenesis		ATP binding|ATP-dependent RNA helicase activity|magnesium ion binding|RNA binding			breast(2)|endometrium(2)|kidney(5)|large_intestine(18)|lung(20)|ovary(3)|prostate(1)|skin(9)|stomach(4)|urinary_tract(3)	67		all_cancers(38;3.31e-11)|all_epithelial(38;5.69e-10)|all_lung(38;3.73e-05)|Breast(42;0.000525)|Lung NSC(38;0.000954)|Ovarian(80;0.0367)|Lung SC(80;0.114)		LUAD - Lung adenocarcinoma(64;0.0215)|BRCA - Breast invasive adenocarcinoma(115;0.24)		GTGTGTGCGAAGGTATGCTCA	0.512													T	50538030	A	T	50538030	1	4	663	1	0	0	0	0	0	0	0	0	9795	86	3	5		5	MOV10L1	22	50538030	Translation_Start_Site	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		50538030	766536	34	52674											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879232	128879232	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtggattacaggctttacAgggtctgcaggtgacaatca	10	10	13	8	1	2	1	1	1	1	0	2	2	2	2	0	4	3	2	0	4	3	3			TCGA-QH-A65Z-01A-11D-A29Q-08	TCGA-QH-A65Z-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d0a802c3-cb5f-48d0-b06f-8a526841caf2	d2f44aee-6bf6-4683-a741-75833c96b28c	g.chrX:128879232A>T	ENST00000371106.3	+	4	480	c.288A>T	c.(286-288)acA>acT	p.T96T	XPNPEP2_ENST00000371105.3_Silent_p.T96T	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	96					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						CAGGCTTTACAGGGTCTGCAG	0.488													T	128879232	A	T	128879232	2	4	663	1	0	0	0	0	0	0	0	1	17545	175	7	5		5	XPNPEP2	23	128879232	Silent	SNP	A	TCGA-QH-A65Z-01A-11D-A29Q-08		128879232	26391328	35	52675											
SLC45A1	50651	broad.mit.edu	37	chr1	8399632	8399632	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgccttcggcctggggacCgggcttgccaccctctccag	3	8	12	18	3	1	0	0	0	1	0	4	1	1	1	6	4	1	1	6	4	0	2	rs140511753		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:8399632C>A	ENST00000471889.1	+	8	2239	c.1854C>A	c.(1852-1854)acC>acA	p.T618T	SLC45A1_ENST00000377479.2_Silent_p.T652T|SLC45A1_ENST00000289877.8_Silent_p.T618T			Q9Y2W3	S45A1_HUMAN	solute carrier family 45, member 1	618					carbohydrate transport	integral to membrane	symporter activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(2)	33	Ovarian(185;0.0661)|all_lung(157;0.127)	all_epithelial(116;1.22e-15)|all_lung(118;0.000147)|Lung NSC(185;0.000251)|Renal(390;0.000469)|Colorectal(325;0.00578)|Breast(348;0.00686)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.11)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;3.95e-66)|GBM - Glioblastoma multiforme(8;5.93e-33)|Colorectal(212;2.86e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|Kidney(185;5.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000513)|KIRC - Kidney renal clear cell carcinoma(229;0.000979)|STAD - Stomach adenocarcinoma(132;0.00199)|READ - Rectum adenocarcinoma(331;0.0649)		GCCTGGGGACCGGGCTTGCCA	0.597													A	8399632	C	A	8399632	2	1	664	1	0	0	0	0	0	0	0	1	14734	639	23	4		4	SLC45A1	1	8399632	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		8399632	240850989	1	52676											
LPPR5	163404	broad.mit.edu	37	chr1	99380375	99380375	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accttttccaaaggactttcTactcgaggaatgctgatcat	11	13	7	10	1	2	1	1	1	1	0	4	4	3	3	2	2	2	1	2	2	3	4			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr1:99380375T>C	ENST00000370188.3	-	5	1260	c.900A>G	c.(898-900)gtA>gtG	p.V300V	LPPR5_ENST00000263177.4_Silent_p.V300V	NM_001010861.2	NP_001010861.1	Q32ZL2	LPPR5_HUMAN		300						integral to membrane	hydrolase activity										AAGGACTTTCTACTCGAGGAA	0.353													C	99380375	T	C	99380375	2	2	664	1	0	0	0	0	0	0	0	1	8998	1509	53	3		3	LPPR5	1	99380375	Silent	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08	90980743	99380375	149870246	2	52677											
KIAA1715	80856	broad.mit.edu	37	chr2	176804298	176804298	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctgttttgtggaccatcaCcaaccaaatattcaacaatt	14	12	4	11	0	2	0	2	0	0	0	2	1	2	1	4	1	2	1	4	1	5	5			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:176804298C>A	ENST00000272748.4	-	10	1041	c.794G>T	c.(793-795)gGt>gTt	p.G265V	KIAA1715_ENST00000535310.1_Missense_Mutation_p.G190V|KIAA1715_ENST00000544803.1_Missense_Mutation_p.G296V	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	265						integral to membrane	protein binding			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			TGGACCATCACCAACCAAATA	0.378													A	176804298	C	A	176804298	3	1	664	1	0	0	0	0	1	0	0	0	8312	507	18	4	508	4	KIAA1715	2	176804298	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		176804298	66395075	3	52678											
TTN	7273	broad.mit.edu	37	chr2	179477176	179477176	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccagccttttcgcctgacGtctctcttttccacaatgta	6	15	6	14	2	2	1	0	1	2	0	5	1	3	1	4	0	2	1	4	0	2	5			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr2:179477176G>A	ENST00000589042.1	-	266	50300	c.50076C>T	c.(50074-50076)gaC>gaT	p.D16692D	TTN_ENST00000342992.6_Silent_p.D14124D|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Silent_p.D7819D|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Silent_p.D15051D|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Silent_p.D7752D|TTN_ENST00000460472.2_Silent_p.D7627D|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589234.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15051	Fibronectin type-III 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCGCCTGACGTCTCTCTTTT	0.458													A	179477176	G	A	179477176	2	1	664	1	0	0	0	0	0	0	0	1	16837	1136	40	1		1	TTN	2	179477176	Silent	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	2672878	179477176	63722197	4	52679											
APBB2	323	broad.mit.edu	37	chr4	40818255	40818255	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgagaaggcggcctggctaCcaagcacttctgatatcgta	10	9	11	11	2	1	2	0	2	1	1	2	3	1	2	2	3	2	3	2	3	5	4			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:40818255C>A	ENST00000295974.8	-	18	2760	c.2131G>T	c.(2131-2133)Gta>Tta	p.V711L	APBB2_ENST00000513140.1_Missense_Mutation_p.V689L|APBB2_ENST00000504305.1_Missense_Mutation_p.V163L|RP11-632F7.3_ENST00000513127.1_RNA|APBB2_ENST00000506352.1_Missense_Mutation_p.V690L|APBB2_ENST00000508593.1_Missense_Mutation_p.V712L|APBB2_ENST00000543538.1_Missense_Mutation_p.V163L|APBB2_ENST00000502841.1_Missense_Mutation_p.V163L	NM_001166050.1|NM_004307.1	NP_001159522.1|NP_004298.1	Q92870	APBB2_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 2	711	PID 2.				cell cycle arrest|intracellular signal transduction|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|regulation of transcription, DNA-dependent	growth cone|lamellipodium|membrane|nucleus|synapse	beta-amyloid binding|transcription factor binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(3)|skin(2)|urinary_tract(1)	34						GGCCTGGCTACCAAGCACTTC	0.403													A	40818255	C	A	40818255	3	1	664	1	0	0	0	0	1	0	0	0	763	507	18	4	149	4	APBB2	4	40818255	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		40818255	150336021	5	52680											
FBXW7	55294	broad.mit.edu	37	chr4	153244092	153244092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtttcttcagtcccattccGactcccaactgcacacacca	9	10	5	17	1	2	0	1	0	1	0	5	1	5	0	4	1	2	2	4	1	1	3			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:153244092G>A	ENST00000281708.4	-	12	3294	c.2065C>T	c.(2065-2067)Cgg>Tgg	p.R689W	FBXW7_ENST00000603841.1_Missense_Mutation_p.R689W|FBXW7_ENST00000263981.5_Missense_Mutation_p.R609W|FBXW7_ENST00000393956.3_Missense_Mutation_p.R513W|FBXW7_ENST00000296555.5_Missense_Mutation_p.R571W|FBXW7_ENST00000603548.1_Missense_Mutation_p.R689W	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	689					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.R689W(10)|p.R450W(3)|p.R609W(3)|p.R571W(1)|p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				GTCCCATTCCGACTCCCAACT	0.478			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								A	153244092	G	A	153244092	3	1	664	1	0	0	0	0	1	0	0	0	5818	1057	37	1	62	1	FBXW7	4	153244092	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	112425837	153244092	37910184	6	52681											
SPATA4	132851	broad.mit.edu	37	chr4	177113947	177113947	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaccaggggtaaacgcatCtggtagctatagtccgtgaa	13	8	12	8	2	1	1	0	1	1	0	2	2	2	1	2	3	3	4	2	3	7	4			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr4:177113947C>A	ENST00000280191.2	-	4	627	c.519G>T	c.(517-519)caG>caT	p.Q173H	SPATA4_ENST00000515234.1_5'UTR	NM_144644.2	NP_653245.2	Q8NEY3	SPAT4_HUMAN	spermatogenesis associated 4	173					apoptosis|spermatogenesis					NS(2)|cervix(1)|endometrium(2)|large_intestine(7)|lung(10)	22		Breast(14;0.0011)|Prostate(90;0.0129)|Melanoma(52;0.0133)|Renal(120;0.0376)|all_hematologic(60;0.124)		all cancers(43;2.9e-20)|Epithelial(43;1.99e-17)|OV - Ovarian serous cystadenocarcinoma(60;2.58e-09)|GBM - Glioblastoma multiforme(59;0.000162)|STAD - Stomach adenocarcinoma(60;0.000543)|LUSC - Lung squamous cell carcinoma(193;0.096)		GTAAACGCATCTGGTAGCTAT	0.353													A	177113947	C	A	177113947	3	1	664	1	0	0	0	0	1	0	0	0	15106	912	32	4	410	4	SPATA4	4	177113947	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	23869855	177113947	14040329	7	52682											
PIK3R1	5295	broad.mit.edu	37	chr5	67591287	67591287	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcggcaaaagaagttgaaCgagtggttgggcaatgaaaa	15	8	14	4	2	0	3	0	2	0	1	1	4	0	3	0	3	1	5	0	3	7	3			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:67591287C>T	ENST00000521381.1	+	14	2401	c.1785C>T	c.(1783-1785)aaC>aaT	p.N595N	PIK3R1_ENST00000521657.1_Silent_p.N595N|PIK3R1_ENST00000336483.5_Silent_p.N325N|PIK3R1_ENST00000274335.5_Silent_p.N595N|PIK3R1_ENST00000320694.8_Silent_p.N295N|PIK3R1_ENST00000396611.1_Silent_p.N595N|PIK3R1_ENST00000523872.1_Silent_p.N232N	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	595					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.M582_D605>I(4)|p.Y580fs*1(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AGAAGTTGAACGAGTGGTTGG	0.368			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			T	67591287	C	T	67591287	2	4	664	1	0	0	0	0	0	0	0	1	11995	535	19	1		1	PIK3R1	5	67591287	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		67591287	113323973	8	52683											
DHFR	1719	broad.mit.edu	37	chr5	79945214	79945214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaaggtacttacttgagtTctctgctgagaactaaatta	12	15	8	6	0	1	2	0	2	1	1	2	3	1	2	0	1	4	4	0	1	7	7			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:79945214T>C	ENST00000439211.2	-	3	729	c.236A>G	c.(235-237)gAa>gGa	p.E79G	DHFR_ENST00000504396.1_Missense_Mutation_p.E27G|DHFR_ENST00000505337.1_Missense_Mutation_p.E79G|DHFR_ENST00000511032.1_Missense_Mutation_p.E79G|DHFR_ENST00000513048.1_5'UTR	NM_000791.3	NP_000782.1	P00374	DYR_HUMAN	dihydrofolate reductase	79	DHFR.				folic acid metabolic process|glycine biosynthetic process|nucleotide biosynthetic process|one-carbon metabolic process|regulation of transcription involved in G1/S phase of mitotic cell cycle|response to methotrexate|tetrahydrofolate metabolic process	cytosol	dihydrofolate reductase activity|drug binding|folate reductase activity|NADP binding			kidney(1)|large_intestine(1)	2		Lung NSC(167;0.00475)|all_lung(232;0.00502)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;2.69e-46)|Epithelial(54;7.49e-41)|all cancers(79;1.54e-35)	Dapsone(DB00250)|Dimethyl sulfoxide(DB01093)|Lamotrigine(DB00555)|Methotrexate(DB00563)|NADH(DB00157)|Pemetrexed(DB00642)|Proguanil(DB01131)|Pyrimethamine(DB00205)|Trimethoprim(DB00440)|Trimetrexate(DB01157)	TTACTTGAGTTCTCTGCTGAG	0.348													C	79945214	T	C	79945214	3	2	664	1	0	0	0	0	1	0	0	0	4520	1783	62	3	343	3	DHFR	5	79945214	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08	12353927	79945214	100970046	9	52684											
PCDHA7	56141	broad.mit.edu	37	chr5	140215321	140215321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtggccgacgtgaacgacaaCgccccggcgttcgcgcagcc	7	4	14	16	8	0	1	0	1	0	0	1	3	0	1	4	2	3	2	4	2	2	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:140215321C>T	ENST00000525929.1	+	1	1353	c.1353C>T	c.(1351-1353)aaC>aaT	p.N451N	PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA7_ENST00000378125.3_Silent_p.N451N|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018910.2	NP_061733.1														NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGAACGACAACGCCCCGGCGT	0.677													T	140215321	C	T	140215321	2	4	664	1	0	0	0	0	0	0	0	1	11605	535	19	1		1	PCDHA7	5	140215321	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	60270107	140215321	40699939	10	52685											
KCNIP1	30820	broad.mit.edu	37	chr5	170159832	170159832	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggacattgtcaaagccatctAtgacatgatggggaaataca	15	9	10	7	0	2	2	1	2	1	0	2	4	2	4	1	3	2	0	1	3	4	3			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr5:170159832A>G	ENST00000328939.4	+	6	1001	c.464A>G	c.(463-465)tAt>tGt	p.Y155C	KCNIP1_ENST00000390656.4_Missense_Mutation_p.Y155C|KCNIP1_ENST00000520740.1_Missense_Mutation_p.Y127C|KCNIP1_ENST00000411494.1_Missense_Mutation_p.Y166C|KCNIP1_ENST00000377360.4_Missense_Mutation_p.Y164C|KCNIP1_ENST00000434108.1_Missense_Mutation_p.Y180C	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	166	EF-hand 3.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			AAAGCCATCTATGACATGATG	0.488													G	170159832	A	G	170159832	3	3	664	1	0	0	0	0	1	0	0	0	8097	449	16	3	615	3	KCNIP1	5	170159832	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08	29944511	170159832	10755428	11	52686											
LAMA2	3908	broad.mit.edu	37	chr6	129785592	129785592	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtatcttgccacacgaGacctggtaaagatcatatgc	12	11	9	9	1	2	3	1	1	1	2	2	4	2	3	2	1	2	2	2	1	4	4			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr6:129785592G>T	ENST00000421865.2	+	50	7199	c.7150G>T	c.(7150-7152)Gac>Tac	p.D2384Y		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2384	Laminin G-like 2.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGCCACACGAGACCTGGTAAA	0.408													T	129785592	G	T	129785592	3	4	664	1	0	0	0	0	1	0	0	0	8665	942	33	4	7348	4	LAMA2	6	129785592	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		129785592	41329475	12	52687											
EIF2AK1	27102	broad.mit.edu	37	chr7	6094277	6094277	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggtttgcaactgcaaaaggGaaggttggctgttgtagggg	9	11	17	4	0	0	0	0	0	0	0	0	1	0	1	0	6	3	7	0	6	5	4			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:6094277G>T	ENST00000199389.6	-	2	323	c.177C>A	c.(175-177)ttC>ttA	p.F59L	EIF2AK1_ENST00000536084.1_5'UTR	NM_001134335.1|NM_014413.3	NP_001127807.1|NP_055228.2	Q9BQI3	E2AK1_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 1	59					negative regulation of hemoglobin biosynthetic process|negative regulation of translational initiation by iron|protein autophosphorylation|response to external stimulus|response to stress	cytoplasm	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|heme binding|protein homodimerization activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	27		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.106)|OV - Ovarian serous cystadenocarcinoma(56;5.22e-14)		CTGCAAAAGGGAAGGTTGGCT	0.398													T	6094277	G	T	6094277	3	4	664	1	0	0	0	0	1	0	0	0	5035	1165	41	4	1771	4	EIF2AK1	7	6094277	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		6094277	153044386	13	52688											
AZGP1	563	broad.mit.edu	37	chr7	99565785	99565785	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcagtgagtaccttgccgGtccaggatatttttgctgta	9	13	11	8	1	0	1	0	1	0	0	1	2	1	2	3	2	4	4	3	2	4	6			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr7:99565785G>A	ENST00000411734.1	-	3	602	c.597C>T	c.(595-597)gaC>gaT	p.D199D	AZGP1_ENST00000292401.4_Silent_p.D202D			P25311	ZA2G_HUMAN	alpha-2-glycoprotein 1, zinc-binding	202					antigen processing and presentation|cell adhesion|immune response|lipid catabolic process|negative regulation of cell proliferation	extracellular region|MHC class I protein complex	fatty acid binding|protein transmembrane transporter activity|ribonuclease activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|stomach(1)	16	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					TACCTTGCCGGTCCAGGATAT	0.537													A	99565785	G	A	99565785	2	1	664	1	0	0	0	0	0	0	0	1	1244	1252	44	2		2	AZGP1	7	99565785	Silent	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	93471508	99565785	59572878	14	52689											
MATN2	4147	broad.mit.edu	37	chr8	98943235	98943235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttcatcattgacagctctcGcagtgtcaacacccatgact	10	12	6	13	1	4	2	3	2	1	0	5	2	4	2	1	0	2	2	1	0	1	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:98943235G>A	ENST00000254898.5	+	3	428	c.197G>A	c.(196-198)cGc>cAc	p.R66H	MATN2_ENST00000524308.1_Missense_Mutation_p.R66H|MATN2_ENST00000521689.1_Missense_Mutation_p.R66H|MATN2_ENST00000522025.2_Intron|MATN2_ENST00000520016.1_Missense_Mutation_p.R66H	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	matrilin 2	66	VWFA 1.					proteinaceous extracellular matrix	calcium ion binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			GACAGCTCTCGCAGTGTCAAC	0.507													A	98943235	G	A	98943235	3	1	664	1	0	0	0	0	1	0	0	0	9409	1087	38	1	203	1	MATN2	8	98943235	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		98943235	47420787	15	52690											
UTP23	84294	broad.mit.edu	37	chr8	117783984	117783984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaggcaccggacacacAatcatctgcttctgaaaaga	17	6	8	10	1	3	2	1	1	2	1	3	4	3	3	1	2	1	2	1	2	5	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr8:117783984A>G	ENST00000309822.2	+	3	754	c.653A>G	c.(652-654)cAa>cGa	p.Q218R	UTP23_ENST00000357148.3_Intron|UTP23_ENST00000517820.1_Intron|UTP23_ENST00000520733.1_Intron	NM_032334.2	NP_115710.2	Q9BRU9	UTP23_HUMAN	UTP23, small subunit (SSU) processome component, homolog (yeast)	218					rRNA processing	nucleolus				breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|urinary_tract(1)	12						CCGGACACACAATCATCTGCT	0.368													G	117783984	A	G	117783984	3	3	664	1	0	0	0	0	1	0	0	0	17202	130	5	3	663	3	UTP23	8	117783984	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08	18840749	117783984	28580038	16	52691											
PTEN	5728	broad.mit.edu	37	chr10	89720803	89720804	+	Frame_Shift_Ins	INS	-	-	A																															acaaggaatatctagtacttINSactttaacaaaaaatgatct																								rs146650273		TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:89720803_89720804insA	ENST00000371953.3	+	8	2311_2312	c.954_955insA	c.(955-957)actfs	p.T319fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	319	C2 tensin-type.		Missing (in glioma; reduced tumor suppressor activity; fails to inactivate AKT/PKB).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.L318fs*2(27)|p.T319fs*1(24)|p.T319fs*6(6)|p.R55fs*1(5)|p.V317fs*3(4)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.T319del(2)|p.V317fs*6(2)|p.T319_K332del(1)|p.G165_*404del(1)|p.L318fs*3(1)|p.L316fs*1(1)|p.T319fs*4(1)|p.W274_F341del(1)|p.V317_K322del(1)|p.T318fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		ATCTAGTACTTACTTTAACAAA	0.327		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89720804	-	A	89720803	7	5	664	1	0	1	1	0	0	0	0	0	12823	1741	61	0	984	0	PTEN	10	89720803	Frame_Shift_Ins	INS	-	TCGA-QH-A6CS-01A-11D-A31L-08		89720803	45813944	17	52692											
PNLIPRP2	5408	broad.mit.edu	37	chr10	118396277	118396277	+	RNA	DEL	G	G	-																															ttgactaacagacaaattatGgttttttttttccactagag																								rs148140777	by1000genomes	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr10:118396277delG	ENST00000537242.1	+	0	962				PNLIPRP2_ENST00000433618.4_RNA|PNLIPRP2_ENST00000298771.7_RNA	NM_005396.4	NP_005387.2	P54317	LIPR2_HUMAN	pancreatic lipase-related protein 2						galactolipid catabolic process|lipid digestion|phospholipid catabolic process|triglyceride metabolic process	extracellular space	acylglycerol lipase activity|calcium ion binding|galactolipase activity|phospholipase activity|triglyceride lipase activity			endometrium(1)|large_intestine(1)|lung(11)|prostate(3)	16				all cancers(201;0.015)		GACAAATTATGGTTTTTTTTT	0.423													-	118396277	G	-	118396277	6	5	664	0	1	1	0	1	0	0	0	0	12228	1363	47	0		0	PNLIPRP2	10	118396277	RNA	DEL	G	TCGA-QH-A6CS-01A-11D-A31L-08	28675474	118396277	17138470	18	52693											
PAX6	5080	broad.mit.edu	37	chr11	31815030	31815030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtgaagctgggcataggcgGcagagcgctgtaggtgtttg	7	9	19	6	2	0	2	0	1	0	1	0	2	0	2	0	5	2	6	0	5	3	3			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr11:31815030G>A	ENST00000419022.1	-	12	1498	c.1030C>T	c.(1030-1032)Ccg>Tcg	p.P344S	PAX6_ENST00000241001.8_Missense_Mutation_p.P330S|PAX6_ENST00000379123.5_Missense_Mutation_p.P330S|PAX6_ENST00000379115.4_Missense_Mutation_p.P344S|PAX6_ENST00000379129.2_Missense_Mutation_p.P344S|PAX6_ENST00000379107.2_Missense_Mutation_p.P344S|PAX6_ENST00000379111.2_Missense_Mutation_p.P330S|PAX6_ENST00000379132.3_Missense_Mutation_p.P330S	NM_001127612.1|NM_001258462.1|NM_001258463.1	NP_001121084.1|NP_001245391.1|NP_001245392.1	P26367	PAX6_HUMAN	paired box 6	330	Pro/Ser/Thr-rich.				blood vessel development|central nervous system development|cornea development in camera-type eye|glucose homeostasis|iris morphogenesis|negative regulation of neurogenesis|neuron fate commitment|pancreatic A cell development|positive regulation of transcription, DNA-dependent|response to wounding|visual perception	cytoplasm|nuclear chromatin	R-SMAD binding|RNA polymerase II core promoter sequence-specific DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity|ubiquitin-protein ligase activity			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|skin(2)	35	Lung SC(675;0.225)					GGCATAGGCGGCAGAGCGCTG	0.557									Wilms' tumor-Aniridia-ambiguous Genitals-mental Retardation				A	31815030	G	A	31815030	3	1	664	1	0	0	0	0	1	0	0	0	11559	1203	42	2	292	2	PAX6	11	31815030	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		31815030	103191486	19	52694											
CCDC53	51019	broad.mit.edu	37	chr12	102433745	102433745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgtagtccagagtcttgTgtactgttctgctgtagaga	7	15	11	8	0	2	2	0	0	2	2	4	3	4	2	2	0	2	5	2	0	3	5			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr12:102433745T>C	ENST00000240079.6	-	5	497	c.336A>G	c.(334-336)acA>acG	p.T112T	CCDC53_ENST00000539515.1_5'UTR|CCDC53_ENST00000545679.1_Silent_p.T111T	NM_016053.2	NP_057137.1	Q9Y3C0	CCD53_HUMAN	coiled-coil domain containing 53	112						WASH complex	protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4						CAGAGTCTTGTGTACTGTTCT	0.358													C	102433745	T	C	102433745	2	2	664	1	0	0	0	0	0	0	0	1	2851	1683	59	3		3	CCDC53	12	102433745	Silent	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		102433745	31418150	20	52695											
HERC2	8924	broad.mit.edu	37	chr15	28478677	28478677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cttgctcaataccaagtgcaCctgcatgaactaaagataat	15	10	6	10	0	1	2	1	1	0	1	1	2	1	2	2	0	5	3	2	0	7	4			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr15:28478677C>T	ENST00000261609.7	-	29	4490	c.4382G>A	c.(4381-4383)gGt>gAt	p.G1461D		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	1461					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACCAAGTGCACCTGCATGAAC	0.423													T	28478677	C	T	28478677	3	4	664	1	0	0	0	0	1	0	0	0	7113	507	18	2	10382	2	HERC2	15	28478677	Missense_Mutation	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08		28478677	74052715	21	52696											
NF1	4763	broad.mit.edu	37	chr17	29652974	29652974	+	Frame_Shift_Del	DEL	T	T	-																															gcaatcgctttaaaacagacTttctctctaagtggtttgtt																										TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:29652974delT	ENST00000358273.4	+	37	5355	c.4972delT	c.(4972-4974)tttfs	p.F1658fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.F1637fs|NF1_ENST00000581113.2_3'UTR	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1658	CRAL-TRIO.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAAAACAGACTTTCTCTCTAA	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29652974	T	-	29652974	7	5	664	1	0	1	0	1	0	0	0	0	10432	1609	56	0	5179	0	NF1	17	29652974	Frame_Shift_Del	DEL	T	TCGA-QH-A6CS-01A-11D-A31L-08		29652974	51542236	22	52697											
GALR2	8811	broad.mit.edu	37	chr17	74071243	74071243	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accctggacggctgggtgttCggctcgctgctgtgcaaggc	4	9	16	12	3	0	0	0	0	0	0	2	1	0	1	1	5	2	6	1	5	1	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr17:74071243C>T	ENST00000329003.3	+	1	369	c.279C>T	c.(277-279)ttC>ttT	p.F93F		NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	93					digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						GCTGGGTGTTCGGCTCGCTGC	0.632													T	74071243	C	T	74071243	2	4	664	1	0	0	0	0	0	0	0	1	6282	883	31	1		1	GALR2	17	74071243	Silent	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	44418269	74071243	7123967	23	52698											
SHANK1	50944	broad.mit.edu	37	chr19	51190015	51190015	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcttactgagagccatctgaTacacggtccgctttttctcc	7	14	7	13	2	3	2	0	2	3	1	5	3	4	2	3	1	3	1	3	1	2	4			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr19:51190015T>C	ENST00000293441.1	-	19	2462	c.2444A>G	c.(2443-2445)tAt>tGt	p.Y815C	SHANK1_ENST00000391813.1_Missense_Mutation_p.Y202C|SHANK1_ENST00000359082.3_Missense_Mutation_p.Y806C|SHANK1_ENST00000391814.1_Missense_Mutation_p.Y823C	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	815					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGCCATCTGATACACGGTCCG	0.687													C	51190015	T	C	51190015	3	2	664	1	0	0	0	0	1	0	0	0	14358	1406	49	3	4061	3	SHANK1	19	51190015	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		51190015	7938968	24	52699											
BCAS4	55653	broad.mit.edu	37	chr20	49446838	49446838	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagtgatacttcacagaTcctggaggaaaacatcccag	14	7	10	10	0	1	2	1	1	0	1	3	5	3	5	2	3	2	0	2	3	3	2			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:49446838T>A	ENST00000358791.5	+	3	375	c.275T>A	c.(274-276)aTc>aAc	p.I92N	BCAS4_ENST00000485049.1_3'UTR|BCAS4_ENST00000262591.5_Missense_Mutation_p.I92N|BCAS4_ENST00000609336.1_Missense_Mutation_p.I62N|BCAS4_ENST00000371608.2_Missense_Mutation_p.I92N	NM_017843.3	NP_060313.3	Q8TDM0	BCAS4_HUMAN	breast carcinoma amplified sequence 4	92						cytoplasm				large_intestine(2)|lung(2)|pancreas(1)|upper_aerodigestive_tract(1)	6						ACTTCACAGATCCTGGAGGAA	0.532													A	49446838	T	A	49446838	3	1	664	1	0	0	0	0	1	0	0	0	1358	1435	50	5	285	5	BCAS4	20	49446838	Missense_Mutation	SNP	T	TCGA-QH-A6CS-01A-11D-A31L-08		49446838	13578682	25	52700											
ZFP64	55734	broad.mit.edu	37	chr20	50776664	50776664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataacaggcaggactcacccGtgtgggatcgcaggtggaca	11	6	14	10	2	1	0	1	0	0	0	2	3	1	3	1	5	1	2	1	5	1	1			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr20:50776664G>A	ENST00000216923.4	-	5	1110	c.761C>T	c.(760-762)aCg>aTg	p.T254M	ZFP64_ENST00000361387.2_Missense_Mutation_p.T254M|ZFP64_ENST00000477786.1_5'UTR|ZFP64_ENST00000371518.2_Missense_Mutation_p.T254M|ZFP64_ENST00000371515.4_Missense_Mutation_p.T252M|ZFP64_ENST00000346617.4_Missense_Mutation_p.T200M	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	254					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						GGACTCACCCGTGTGGGATCG	0.532													A	50776664	G	A	50776664	3	1	664	1	0	0	0	0	1	0	0	0	17753	1145	40	1	2483	1	ZFP64	20	50776664	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08	1329826	50776664	12248856	26	52701											
PDE9A	5152	broad.mit.edu	37	chr21	44190886	44190886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgctacgaggagctgaagcGgatagatgacgccatgaaag	13	6	14	8	4	0	4	0	3	0	1	1	7	0	6	1	2	3	2	1	2	4	2	rs150892798	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chr21:44190886G>A	ENST00000291539.6	+	18	1724	c.1664G>A	c.(1663-1665)cGg>cAg	p.R555Q	PDE9A_ENST00000398229.3_Missense_Mutation_p.R421Q|PDE9A_ENST00000335512.4_Missense_Mutation_p.R495Q|PDE9A_ENST00000349112.3_Missense_Mutation_p.R427Q|PDE9A_ENST00000380328.2_Missense_Mutation_p.R502Q|PDE9A_ENST00000398225.3_Missense_Mutation_p.R514Q|PDE9A_ENST00000539837.1_Missense_Mutation_p.R427Q|PDE9A_ENST00000398232.3_Missense_Mutation_p.R488Q|PDE9A_ENST00000470987.1_3'UTR|PDE9A_ENST00000335440.6_Missense_Mutation_p.R453Q|PDE9A_ENST00000398234.3_Missense_Mutation_p.R454Q|PDE9A_ENST00000398236.3_Missense_Mutation_p.R469Q|PDE9A_ENST00000328862.6_Missense_Mutation_p.R529Q|PDE9A_ENST00000398227.3_Missense_Mutation_p.R395Q|PDE9A_ENST00000398224.3_Missense_Mutation_p.R428Q	NM_002606.2	NP_002597.1	O76083	PDE9A_HUMAN	phosphodiesterase 9A	555					platelet activation|signal transduction	cytosol|endoplasmic reticulum|Golgi apparatus|perinuclear region of cytoplasm|ruffle membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding|protein binding			breast(1)|endometrium(4)|large_intestine(6)|lung(8)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27						GAGCTGAAGCGGATAGATGAC	0.557													A	44190886	G	A	44190886	3	1	664	1	0	0	0	0	1	0	0	0	11731	1116	39	1	1814	1	PDE9A	21	44190886	Missense_Mutation	SNP	G	TCGA-QH-A6CS-01A-11D-A31L-08		44190886	3939009	27	52702											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	664	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-QH-A6CS-01A-11D-A31L-08		37028425	118242135	28	52703											
F8	2157	broad.mit.edu	37	chrX	154130442	154130442	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttccactgtctcaaaaacaCcttataaaaaccaacaggaa	18	9	3	11	0	1	0	1	0	1	0	3	1	2	1	3	1	3	0	3	1	8	3			TCGA-QH-A6CS-01A-11D-A31L-08	TCGA-QH-A6CS-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bb6e8162-12a8-4f26-9d2e-46bbe8eac3f2	e7b41454-99a5-4bbc-9ac4-ca4940c19eeb	g.chrX:154130442C>T	ENST00000360256.4	-	19	6199	c.5999G>A	c.(5998-6000)gGt>gAt	p.G2000D		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2000	F5/8 type A 3.|Plastocyanin-like 6.		G -> A (in HEMA; moderate-severe).		acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	CTCAAAAACACCTTATAAAAA	0.378													T	154130442	C	T	154130442	5	4	664	1	0	0	0	0	0	0	1	0	5392	521	18	2	1116	2	F8	23	154130442	Splice_Site	SNP	C	TCGA-QH-A6CS-01A-11D-A31L-08	117102017	154130442	1140118	29	52704											
LRRC41	10489	broad.mit.edu	37	chr1	46752046	46752046	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgagctgtcggacatggcgGgagctgtgcagaagaggtga	9	7	19	6	2	0	4	0	2	0	2	1	6	0	6	0	4	3	3	0	4	1	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr1:46752046G>A	ENST00000343304.6	-	4	768	c.483C>T	c.(481-483)tcC>tcT	p.S161S	LRRC41_ENST00000472710.1_5'UTR	NM_006369.4	NP_006360.3	Q15345	LRC41_HUMAN	leucine rich repeat containing 41	161										breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(3)|pancreas(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					GGACATGGCGGGAGCTGTGCA	0.567													A	46752046	G	A	46752046	2	1	665	1	0	0	0	0	0	0	0	1	9069	1219	43	2		2	LRRC41	1	46752046	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		46752046	202498575	1	52705											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	665	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		209113112	34086261	2	52706											
ADAMTS9	56999	broad.mit.edu	37	chr3	64547306	64547306	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacaccgtgggccttggCagtcgcgttccgactccggt	4	8	16	13	5	0	0	0	0	0	0	3	2	2	1	4	5	0	2	4	5	0	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr3:64547306C>A	ENST00000498707.1	-	30	4988	c.4646G>T	c.(4645-4647)tGc>tTc	p.C1549F	ADAMTS9-AS1_ENST00000480831.1_RNA|ADAMTS9_ENST00000295903.4_Missense_Mutation_p.C1521F|ADAMTS9-AS1_ENST00000470447.1_RNA	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1549	TSP type-1 12.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGGCCTTGGCAGTCGCGTTC	0.577													A	64547306	C	A	64547306	3	1	665	1	0	0	0	0	1	0	0	0	273	710	25	4	1201	4	ADAMTS9	3	64547306	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		64547306	133475124	3	52707											
OR2Y1	134083	broad.mit.edu	37	chr5	180166535	180166535	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcatctcacagaagaagTgattcagtcgatggccacag	13	7	11	10	1	2	3	2	1	1	2	4	4	2	3	1	2	0	1	1	2	2	1			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr5:180166535T>A	ENST00000307832.2	-	1	564	c.524A>T	c.(523-525)cAc>cTc	p.H175L		NM_001001657.1	NP_001001657.1	Q8NGV0	OR2Y1_HUMAN	olfactory receptor, family 2, subfamily Y, member 1	175					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	all_cancers(89;1.25e-05)|all_epithelial(37;4.36e-06)|Renal(175;0.000159)|Lung NSC(126;0.00317)|all_lung(126;0.0041)|Breast(19;0.114)	all_cancers(40;0.0834)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ACAGAAGAAGTGATTCAGTCG	0.542													A	180166535	T	A	180166535	3	1	665	1	0	0	0	0	1	0	0	0	11111	1696	59	5	415	5	OR2Y1	5	180166535	Missense_Mutation	SNP	T	TCGA-QH-A6CU-01A-11D-A31L-08		180166535	748725	4	52708											
RREB1	6239	broad.mit.edu	37	chr6	7232039	7232039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagctgctgagggccaagcGgaactcgtacaccaactgcc	11	5	11	14	2	0	1	0	1	0	0	1	2	0	2	3	2	7	3	3	2	5	1			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr6:7232039G>A	ENST00000379938.2	+	10	4244	c.3707G>A	c.(3706-3708)cGg>cAg	p.R1236Q	RREB1_ENST00000349384.6_Missense_Mutation_p.R1236Q|RREB1_ENST00000379933.3_Missense_Mutation_p.R1236Q|RREB1_ENST00000334984.6_Missense_Mutation_p.R1236Q	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1236					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				AGGGCCAAGCGGAACTCGTAC	0.612													A	7232039	G	A	7232039	3	1	665	1	0	0	0	0	1	0	0	0	13770	1116	39	1	3733	1	RREB1	6	7232039	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		7232039	163883028	5	52709											
SLC39A14	23516	broad.mit.edu	37	chr8	22273317	22273317	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agccattatgcctctgagtcGcttccctccaagaaggacca	10	9	8	14	1	1	2	0	1	1	1	4	3	3	3	5	1	2	1	5	1	3	2	rs140196421		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:22273317G>A	ENST00000381237.1	+	6	905	c.786G>A	c.(784-786)tcG>tcA	p.S262S	SLC39A14_ENST00000240095.6_Silent_p.S262S|SLC39A14_ENST00000289952.5_Silent_p.S262S|SLC39A14_ENST00000359741.5_Silent_p.S262S	NM_001128431.2	NP_001121903.1	Q15043	S39AE_HUMAN	solute carrier family 39 (zinc transporter), member 14	262						endoplasmic reticulum|Golgi apparatus|integral to membrane|lamellipodium|plasma membrane	zinc ion transmembrane transporter activity			NS(1)|endometrium(4)|large_intestine(2)|lung(4)|prostate(1)	12				Colorectal(74;0.019)|COAD - Colon adenocarcinoma(73;0.0731)		CCTCTGAGTCGCTTCCCTCCA	0.552													A	22273317	G	A	22273317	2	1	665	1	0	0	0	0	0	0	0	1	14711	1074	38	1		1	SLC39A14	8	22273317	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		22273317	124090705	6	52710											
MTBP	27085	broad.mit.edu	37	chr8	121528321	121528321	+	Frame_Shift_Del	DEL	A	A	-																															ccatctcctgtagtttcgtcAgatcctggaagtgtccctga																										TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr8:121528321delA	ENST00000305949.1	+	18	2181	c.2136delA	c.(2134-2136)tcafs	p.S712fs		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	712	Interaction with MDM2 (By similarity).				cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			TAGTTTCGTCAGATCCTGGAA	0.423													-	121528321	A	-	121528321	7	5	665	1	0	1	0	1	0	0	0	0	9988	175	7	0	2206	0	MTBP	8	121528321	Frame_Shift_Del	DEL	A	TCGA-QH-A6CU-01A-11D-A31L-08	99255004	121528321	24835701	7	52711											
IFNA21	3452	broad.mit.edu	37	chr9	21166376	21166376	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggatcatctcatggaggAcagagatggcttgagccttc	9	10	13	9	0	2	2	2	1	1	1	4	6	2	5	1	4	1	2	1	4	0	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr9:21166376A>T	ENST00000380225.1	-	1	283	c.236T>A	c.(235-237)gTc>gAc	p.V79D		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	79					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		CTCATGGAGGACAGAGATGGC	0.478													T	21166376	A	T	21166376	3	4	665	1	0	0	0	0	1	0	0	0	7596	275	10	5	337	5	IFNA21	9	21166376	Missense_Mutation	SNP	A	TCGA-QH-A6CU-01A-11D-A31L-08		21166376	120047055	8	52712											
ITIH5	80760	broad.mit.edu	37	chr10	7605143	7605143	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccccgtcaatcagtttggcgGcattgttcctggcaaaccag	8	10	10	13	2	2	0	2	0	0	0	3	0	3	0	4	3	1	4	4	3	2	3			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:7605143G>A	ENST00000256861.6	-	14	2810	c.2732C>T	c.(2731-2733)gCc>gTc	p.A911V	ITIH5_ENST00000298441.6_Missense_Mutation_p.A697V|ITIH5_ENST00000446830.2_Missense_Mutation_p.A693V|ITIH5_ENST00000397146.2_Intron	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	911					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						CAGTTTGGCGGCATTGTTCCT	0.522													A	7605143	G	A	7605143	3	1	665	1	0	0	0	0	1	0	0	0	7965	1203	42	2	142	2	ITIH5	10	7605143	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		7605143	127929604	9	52713											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-																															ctcagcccgcggcagccgctGcagcagcggcagtggcagca																										TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652													-	81052026	GCAGCAGCGGCAGTGGCAGCA	-	81052006	7	5	665	1	0	1	0	1	0	0	0	0	17797	1319	46	0	876	0	ZMIZ1	10	81052006	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	TCGA-QH-A6CU-01A-11D-A31L-08	73446863	81052006	54482741	10	52714											
TCN1	6947	broad.mit.edu	37	chr11	59630180	59630180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	taatcaaggcaagctctcccGagcttacatctgacactgaa	13	9	7	12	1	3	2	1	2	2	0	4	3	3	2	1	1	3	3	1	1	5	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr11:59630180G>A	ENST00000257264.3	-	3	379	c.275C>T	c.(274-276)tCg>tTg	p.S92L	TCN1_ENST00000532419.1_5'UTR	NM_001062.3	NP_001053.2	P20061	TCO1_HUMAN	transcobalamin I (vitamin B12 binding protein, R binder family)	92					cobalamin metabolic process|cobalamin transport|cobalt ion transport	extracellular region	cobalamin binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29		all_epithelial(135;0.198)			Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGCTCTCCCGAGCTTACATC	0.388													A	59630180	G	A	59630180	3	1	665	1	0	0	0	0	1	0	0	0	15806	1059	37	1	1054	1	TCN1	11	59630180	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		59630180	75376336	11	52715											
MAGOHB	55110	broad.mit.edu	37	chr12	10763280	10763280	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggcatatctaagctttcCtgtgggaagtggaaaaaaat	13	12	11	5	0	1	0	0	0	1	0	2	2	2	2	1	3	1	3	1	3	6	4			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:10763280C>A	ENST00000320756.2	-	2	185		c.e2-1		MAGOHB_ENST00000539554.1_Splice_Site|MAGOHB_ENST00000381881.2_Splice_Site	NM_018048.3	NP_060518.1	Q96A72	MGN2_HUMAN	mago-nashi homolog B (Drosophila)						mRNA processing|mRNA transport|RNA splicing	nucleus	RNA binding			breast(2)|large_intestine(2)	4						CTAAGCTTTCCTGTGGGAAGT	0.259													A	10763280	C	A	10763280	5	1	665	1	0	0	0	0	0	0	1	0	9270	695	24	4	368	4	MAGOHB	12	10763280	Splice_Site	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		10763280	123088615	12	52716											
AVPR1A	552	broad.mit.edu	37	chr12	63543874	63543874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgcgacgccgtcttcccgCggacgttgcaccagatgttg	5	8	14	14	7	1	1	0	0	1	1	2	3	2	2	3	2	1	3	3	2	0	3			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr12:63543874C>T	ENST00000299178.2	-	1	848	c.743G>A	c.(742-744)cGc>cAc	p.R248H		NM_000706.4	NP_000697.1	P37288	V1AR_HUMAN	arginine vasopressin receptor 1A	248					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|generation of precursor metabolites and energy	endosome|integral to plasma membrane	protein kinase C binding|vasopressin receptor activity			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(12)|prostate(2)|skin(1)	26			BRCA - Breast invasive adenocarcinoma(9;0.193)	GBM - Glioblastoma multiforme(28;0.0569)	Conivaptan(DB00872)|Desmopressin(DB00035)|Felypressin(DB00093)|Terlipressin(DB02638)|Vasopressin(DB00067)	CGTCTTCCCGCGGACGTTGCA	0.622													T	63543874	C	T	63543874	3	4	665	1	0	0	0	0	1	0	0	0	1236	768	27	1	521	1	AVPR1A	12	63543874	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08	52780594	63543874	70308021	13	52717											
DLK1	8788	broad.mit.edu	37	chr14	101200588	101200588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaggcaatttctgcgagatCgtggccaacagctgcacccc	9	8	10	14	2	2	1	1	0	1	1	3	2	2	1	3	2	4	3	3	2	2	1	rs140697628		TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr14:101200588C>T	ENST00000341267.4	+	5	749	c.507C>T	c.(505-507)atC>atT	p.I169I	DLK1_ENST00000331224.6_Silent_p.I169I	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	169					multicellular organismal development	extracellular space|integral to membrane|soluble fraction				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				TCTGCGAGATCGTGGCCAACA	0.667													T	101200588	C	T	101200588	2	4	665	1	0	0	0	0	0	0	0	1	4603	874	31	1		1	DLK1	14	101200588	Silent	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		101200588	6148952	14	52718											
ACAN	176	broad.mit.edu	37	chr15	89400909	89400909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatctggactgccctccaGtgagctggacattagtggga	10	10	12	9	0	1	1	0	1	1	0	2	4	2	4	2	3	2	1	2	3	3	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr15:89400909G>A	ENST00000439576.2	+	12	5467	c.5093G>A	c.(5092-5094)aGt>aAt	p.S1698N	ACAN_ENST00000559004.1_Missense_Mutation_p.S1698N|ACAN_ENST00000561243.1_Missense_Mutation_p.S1698N|ACAN_ENST00000352105.7_Missense_Mutation_p.S1698N	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	1698					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCCCTCCAGTGAGCTGGAC	0.537													A	89400909	G	A	89400909	3	1	665	1	0	0	0	0	1	0	0	0	117	1029	36	2	5135	2	ACAN	15	89400909	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		89400909	13130483	15	52719											
CRISPLD2	83716	broad.mit.edu	37	chr16	84872264	84872264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagagccatccccagggagGacaaggaggagatcctcatg	12	4	14	11	0	1	2	1	0	0	2	3	6	3	5	4	4	1	1	4	4	1	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr16:84872264G>A	ENST00000262424.5	+	2	387	c.163G>A	c.(163-165)Gac>Aac	p.D55N	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000567845.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000564567.1_Missense_Mutation_p.D55N|CRISPLD2_ENST00000569090.1_Missense_Mutation_p.D55N	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	55						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						CCCCAGGGAGGACAAGGAGGA	0.617													A	84872264	G	A	84872264	3	1	665	1	0	0	0	0	1	0	0	0	3914	1174	41	2	165	2	CRISPLD2	16	84872264	Missense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		84872264	5482489	16	52720											
CASC3	22794	broad.mit.edu	37	chr17	38324149	38324149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catggtgacagccctgccccGctgcctccacagggcatgct	6	7	11	17	1	0	1	0	1	0	0	1	1	1	1	5	2	4	3	5	2	0	0			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr17:38324149G>A	ENST00000264645.7	+	10	1924	c.1698G>A	c.(1696-1698)ccG>ccA	p.P566P		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	566	Necessary for localization in cytoplasmic stress granules.				mRNA processing|mRNA transport|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|response to stress|RNA splicing	exon-exon junction complex|nuclear speck|perinuclear region of cytoplasm	identical protein binding|RNA binding|ubiquitin protein ligase binding			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						GCCCTGCCCCGCTGCCTCCAC	0.502													A	38324149	G	A	38324149	2	1	665	1	0	0	0	0	0	0	0	1	2687	1074	38	1		1	CASC3	17	38324149	Silent	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		38324149	42871061	17	52721											
FZR1	51343	broad.mit.edu	37	chr19	3527700	3527700	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccttcaaggtgctggacgCgcccgagctgcaggacgact	7	6	13	15	4	1	0	1	0	0	0	1	4	1	2	3	3	3	3	3	3	1	1			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr19:3527700C>T	ENST00000441788.2	+	7	778	c.542C>T	c.(541-543)gCg>gTg	p.A181V	FZR1_ENST00000395095.3_Missense_Mutation_p.A181V|FZR1_ENST00000313639.8_Intron	NM_016263.3	NP_057347.2	Q9UM11	FZR_HUMAN	fizzy/cell division cycle 20 related 1 (Drosophila)	181					activation of anaphase-promoting complex activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|DNA repair|G2/M transition DNA damage checkpoint|mitosis|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of protein catabolic process|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle	cytosol|nucleoplasm	protein binding			endometrium(1)|kidney(4)|liver(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(2)	13				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00253)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGCTGGACGCGCCCGAGCTG	0.637													T	3527700	C	T	3527700	3	4	665	1	0	0	0	0	1	0	0	0	6190	768	27	1	564	1	FZR1	19	3527700	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08		3527700	55601283	18	52722											
PLCG1	5335	broad.mit.edu	37	chr20	39798830	39798830	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggcccactggtccctggAtgttgctgccgactcacagg	5	9	14	13	1	1	0	1	0	0	0	2	2	2	1	3	5	2	2	3	5	0	1			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chr20:39798830A>T	ENST00000373272.2	+	24	3134	c.2729A>T	c.(2728-2730)gAt>gTt	p.D910V	PLCG1_ENST00000373271.1_Missense_Mutation_p.D910V|PLCG1_ENST00000244007.3_Missense_Mutation_p.D910V	NM_002660.2	NP_002651.2	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	910	PH 2; second part.				activation of phospholipase C activity|axon guidance|blood coagulation|cellular response to epidermal growth factor stimulus|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|interspecies interaction between organisms|intracellular signal transduction|leukocyte migration|nerve growth factor receptor signaling pathway|phospholipid catabolic process|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of epithelial cell migration|T cell receptor signaling pathway	cytosol|lamellipodium|plasma membrane|ruffle	calcium ion binding|phosphatidylinositol phospholipase C activity|protein binding|receptor signaling protein activity			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				TGGTCCCTGGATGTTGCTGCC	0.592													T	39798830	A	T	39798830	3	4	665	1	0	0	0	0	1	0	0	0	12112	333	12	5	2823	5	PLCG1	20	39798830	Missense_Mutation	SNP	A	TCGA-QH-A6CU-01A-11D-A31L-08		39798830	23226690	19	52723											
SATL1	340562	broad.mit.edu	37	chrX	84362660	84362660	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctggttgccacatgcctcGttgccacatgcctggtggac	5	10	12	14	1	0	0	0	0	0	0	1	1	0	1	5	3	4	2	5	3	0	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:84362660G>A	ENST00000509231.1	-	1	1394	c.1315C>T	c.(1315-1317)Cga>Tga	p.R439*	SATL1_ENST00000395409.3_Nonsense_Mutation_p.R252*|SATL1_ENST00000332921.5_Nonsense_Mutation_p.R252*			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	252	Acetyl-CoA binding (By similarity).|N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CACATGCCTCGTTGCCACATG	0.552													A	84362660	G	A	84362660	4	1	665	1	0	0	0	0	0	1	0	0	13947	1153	40	1	603	1	SATL1	23	84362660	Nonsense_Mutation	SNP	G	TCGA-QH-A6CU-01A-11D-A31L-08		84362660	70907900	20	52724											
HCFC1	3054	broad.mit.edu	37	chrX	153222852	153222852	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttggtggtactgggggagaCgctgctgatgcccaggatgg	6	9	18	8	1	0	2	0	1	0	1	0	4	0	3	1	6	3	3	1	6	1	2			TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153222852C>A	ENST00000310441.7	-	13	3232	c.2266G>T	c.(2266-2268)Gtc>Ttc	p.V756F	HCFC1_ENST00000354233.3_Missense_Mutation_p.V687F|HCFC1_ENST00000369984.4_Missense_Mutation_p.V756F	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	756	Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTGGGGGAGACGCTGCTGATG	0.652													A	153222852	C	A	153222852	3	1	665	1	0	0	0	0	1	0	0	0	7046	536	19	4	3897	4	HCFC1	23	153222852	Missense_Mutation	SNP	C	TCGA-QH-A6CU-01A-11D-A31L-08	68860192	153222852	2047708	21	52725											
PLXNA3	55558	broad.mit.edu	37	chrX	153688564	153688565	+	Frame_Shift_Ins	INS	-	-	G																															ctgctgctcttccttgccgtINSggggggggccctgggcaaca																										TCGA-QH-A6CU-01A-11D-A31L-08	TCGA-QH-A6CU-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cc38bc2-1fc1-491a-af2b-511942996b69	94a2fad7-5e68-405f-9f04-e5c134dac8e0	g.chrX:153688564_153688565insG	ENST00000369682.3	+	2	216_217	c.41_42insG	c.(40-45)gtggggfs	p.VG14fs		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	14					axon guidance	integral to membrane|intracellular|plasma membrane	transmembrane receptor activity	p.A17fs*39(1)		breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TTCCTTGCCGTGGGGGGGGCCC	0.683													G	153688565	-	G	153688564	7	5	665	1	0	1	1	0	0	0	0	0	12198	1696	59	0	43	0	PLXNA3	23	153688564	Frame_Shift_Ins	INS	-	TCGA-QH-A6CU-01A-11D-A31L-08	465712	153688564	1581996	22	52726											
GLIS1	148979	broad.mit.edu	37	chr1	54060262	54060262	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcccgtcagaggggggctcCggagtccatttacacaggtg	7	8	14	12	2	1	1	1	0	0	1	4	2	4	2	3	5	1	1	3	5	1	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:54060262C>T	ENST00000312233.2	-	3	880	c.314G>A	c.(313-315)cGg>cAg	p.R105Q		NM_147193.2	NP_671726.2	Q8NBF1	GLIS1_HUMAN	GLIS family zinc finger 1	105					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(7)|ovary(1)|skin(3)|urinary_tract(4)	24						AGGGGGGCTCCGGAGTCCATT	0.662													T	54060262	C	T	54060262	3	4	666	1	0	0	0	0	1	0	0	0	6501	652	23	1	1580	1	GLIS1	1	54060262	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		54060262	195190359	1	52727											
OR10J3	441911	broad.mit.edu	37	chr1	159284152	159284152	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatagaagaagagctgagTggcacagctttgggtggcaa	13	7	16	5	0	0	5	0	1	0	4	0	6	0	5	0	3	2	4	0	3	4	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:159284152T>A	ENST00000332217.5	-	1	297	c.298A>T	c.(298-300)Act>Tct	p.T100S		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AAGAGCTGAGTGGCACAGCTT	0.507													A	159284152	T	A	159284152	3	1	666	1	0	0	0	0	1	0	0	0	10987	1696	59	5	693	5	OR10J3	1	159284152	Missense_Mutation	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	105223890	159284152	89966469	2	52728											
OBSCN	84033	broad.mit.edu	37	chr1	228437713	228437713	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctggcacacaggaaggtgCaggccgaggcgggggccatt	9	4	18	10	2	0	0	0	0	0	0	0	2	0	1	2	7	2	3	2	7	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:228437713C>T	ENST00000570156.2	+	15	4431	c.4357C>T	c.(4357-4359)Cag>Tag	p.Q1453*	OBSCN_ENST00000366707.4_5'UTR|OBSCN_ENST00000422127.1_Nonsense_Mutation_p.Q1361*|OBSCN_ENST00000366709.4_5'UTR|OBSCN_ENST00000284548.11_Nonsense_Mutation_p.Q1361*	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	431	Ig-like 15.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGGAAGGTGCAGGCCGAGGC	0.637													T	228437713	C	T	228437713	4	4	666	1	0	0	0	0	0	1	0	0	10888	711	25	2	4131	2	OBSCN	1	228437713	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	69153561	228437713	20812908	3	52729											
PCNXL2	80003	broad.mit.edu	37	chr1	233160996	233160996	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaggatgtactgggtctGcgtgatttcccaggtgagcc	6	11	13	11	1	1	2	0	2	1	0	3	3	3	3	3	3	3	1	3	3	1	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:233160996G>A	ENST00000258229.9	-	26	4735	c.4501C>T	c.(4501-4503)Cag>Tag	p.Q1501*	PCNXL2_ENST00000344698.2_Nonsense_Mutation_p.Q153*	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				TACTGGGTCTGCGTGATTTCC	0.592											OREG0014326	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	233160996	G	A	233160996	4	1	666	1	0	0	0	0	0	1	0	0	11668	1328	46	2	1948	2	PCNXL2	1	233160996	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	4723283	233160996	16089625	4	52730											
OR2T6	254879	broad.mit.edu	37	chr1	248551726	248551726	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaccccaatcaaagataagGtcttctctgccttttatacc	12	12	4	13	0	3	1	1	0	2	1	4	1	3	1	4	1	2	0	4	1	5	5			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr1:248551726G>T	ENST00000355728.2	+	1	817	c.817G>T	c.(817-819)Gtc>Ttc	p.V273F		NM_001005471.1	NP_001005471.1	Q8NHC8	OR2T6_HUMAN	olfactory receptor, family 2, subfamily T, member 6	273					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(5)|lung(38)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			CAAAGATAAGGTCTTCTCTGC	0.473													T	248551726	G	T	248551726	3	4	666	1	0	0	0	0	1	0	0	0	11105	1261	44	4	819	4	OR2T6	1	248551726	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	15390730	248551726	698895	5	52731											
ADI1	55256	broad.mit.edu	37	chr2	3517685	3517685	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttatgatgtccatccaggaGtagttcctctctcttcggat	7	15	9	10	1	2	1	0	1	2	0	7	3	5	3	3	2	0	3	3	2	2	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:3517685G>T	ENST00000382093.5	-	2	3002	c.165C>A	c.(163-165)taC>taA	p.Y55*	ADI1_ENST00000327435.6_Nonsense_Mutation_p.Y61*			Q9BV57	MTND_HUMAN	acireductone dioxygenase 1	61					L-methionine salvage from methylthioadenosine	cytoplasm|nucleus|plasma membrane	acireductone dioxygenase (Ni2+-requiring) activity|metal ion binding|protein binding			breast(2)|large_intestine(2)|lung(4)|ovary(1)|stomach(1)	10	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.093)			OV - Ovarian serous cystadenocarcinoma(76;0.0729)|Epithelial(75;0.173)|all cancers(51;0.228)		CCATCCAGGAGTAGTTCCTCT	0.373													T	3517685	G	T	3517685	4	4	666	1	0	0	0	0	0	1	0	0	315	1024	36	4	368	4	ADI1	2	3517685	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		3517685	239681688	6	52732											
TP53I3	9540	broad.mit.edu	37	chr2	24307151	24307151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttggccacctccttcacgtAgaggttttccggtcctcccg	4	12	9	16	3	1	1	1	0	0	1	5	1	5	1	6	3	0	2	6	3	1	5			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:24307151A>G	ENST00000238721.4	-	1	900	c.46T>C	c.(46-48)Tac>Cac	p.Y16H	TP53I3_ENST00000407482.1_Missense_Mutation_p.Y16H|TP53I3_ENST00000313482.4_Missense_Mutation_p.Y16H|FAM228B_ENST00000461972.1_Intron|TP53I3_ENST00000335934.4_Missense_Mutation_p.Y16H|TP53I3_ENST00000417886.1_5'UTR	NM_004881.4	NP_004872.2	Q53FA7	QORX_HUMAN	tumor protein p53 inducible protein 3	16					induction of apoptosis by oxidative stress|NADP metabolic process		NADPH binding|NADPH:quinone reductase activity|protein homodimerization activity|quinone binding|zinc ion binding			endometrium(1)|kidney(4)|large_intestine(2)|lung(3)|urinary_tract(2)	12	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TCCTTCACGTAGAGGTTTTCC	0.642											OREG0014492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	24307151	A	G	24307151	3	3	666	1	0	0	0	0	1	0	0	0	16488	420	15	3	972	3	TP53I3	2	24307151	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08	20789466	24307151	218892222	7	52733											
ACTR2	10097	broad.mit.edu	37	chr2	65473766	65473766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgacatgaaacacctgtggGactacacatttggaccagag	14	8	10	9	0	0	3	0	2	0	1	0	5	0	5	2	2	2	0	2	2	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:65473766G>A	ENST00000260641.5	+	3	425	c.268G>A	c.(268-270)Gac>Aac	p.D90N	ACTR2_ENST00000377982.4_Missense_Mutation_p.D95N|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000542850.1_Missense_Mutation_p.D35N	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	90					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						ACACCTGTGGGACTACACATT	0.383													A	65473766	G	A	65473766	3	1	666	1	0	0	0	0	1	0	0	0	211	1174	41	2	297	2	ACTR2	2	65473766	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	41166615	65473766	177725607	8	52734											
MYO1B	4430	broad.mit.edu	37	chr2	192251949	192251949	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttacatgtgctgcttataGgtgctgtaccaggtggaagg	9	12	14	6	0	0	0	0	0	0	0	0	1	0	1	1	4	5	5	1	4	5	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:192251949G>A	ENST00000392318.3	+	17	1801		c.e17-1		MYO1B_ENST00000339514.4_Splice_Site|MYO1B_ENST00000392316.1_Splice_Site|MYO1B_ENST00000304164.4_Splice_Site	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB							myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			GCTGCTTATAGGTGCTGTACC	0.443													A	192251949	G	A	192251949	5	1	666	1	0	0	0	0	0	0	1	0	10145	1014	35	2	1616	2	MYO1B	2	192251949	Splice_Site	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	126778183	192251949	50947424	9	52735											
ERBB4	2066	broad.mit.edu	37	chr2	212652796	212652796	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagtcaagttggaaggccaTgggttccgaacaatatcttg	12	10	12	7	1	2	1	1	0	1	1	3	3	3	2	2	3	1	2	2	3	5	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr2:212652796T>C	ENST00000342788.4	-	4	820	c.510A>G	c.(508-510)ccA>ccG	p.P170P	ERBB4_ENST00000402597.1_Silent_p.P170P|ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000436443.1_Silent_p.P170P	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	170					cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TGGAAGGCCATGGGTTCCGAA	0.363										TSP Lung(8;0.080)			C	212652796	T	C	212652796	2	2	666	1	0	0	0	0	0	0	0	1	5250	1451	51	3		3	ERBB4	2	212652796	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	20400847	212652796	30546577	10	52736											
LRRC15	131578	broad.mit.edu	37	chr3	194080647	194080647	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggagctgtctgaggcGgttgttctgcagggagatgt	5	11	17	8	1	2	2	0	1	2	1	2	4	2	3	1	4	2	4	1	4	0	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr3:194080647G>A	ENST00000347624.3	-	2	1211	c.1126C>T	c.(1126-1128)Cgc>Tgc	p.R376C	LRRC15_ENST00000428839.1_Missense_Mutation_p.R382C|LRRC15_ENST00000439944.2_Missense_Mutation_p.R382C	NM_130830.4	NP_570843.2	Q8TF66	LRC15_HUMAN	leucine rich repeat containing 15	376						integral to membrane				biliary_tract(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(20)|ovary(4)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42	all_cancers(143;5.31e-09)|Ovarian(172;0.0634)		OV - Ovarian serous cystadenocarcinoma(49;2.2e-17)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.94e-05)		TGTCTGAGGCGGTTGTTCTGC	0.587													A	194080647	G	A	194080647	3	1	666	1	0	0	0	0	1	0	0	0	9040	1116	39	1	623	1	LRRC15	3	194080647	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		194080647	3941783	11	52737											
C4orf21	55345	broad.mit.edu	37	chr4	113461096	113461096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccacaatcaacaaatgcCtctttcctctagtcaatgca	12	12	3	14	0	4	0	2	0	2	0	6	0	6	0	3	0	3	1	3	0	5	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:113461096C>G	ENST00000505019.1	-	27	6220	c.6095G>C	c.(6094-6096)aGg>aCg	p.R2032T	RP11-402J6.1_ENST00000504009.1_RNA	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	0										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		CAACAAATGCCTCTTTCCTCT	0.368													G	113461096	C	G	113461096	3	3	666	1	0	0	0	0	1	0	0	0	2276	681	24	4	227	4	C4orf21	4	113461096	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		113461096	77693180	12	52738											
RXFP1	59350	broad.mit.edu	37	chr4	159566103	159566103	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgggtatgcaccacatgtTcgcagctgtaaaccaaacac	12	9	9	11	1	0	0	0	0	0	0	1	0	0	0	2	1	4	6	2	1	4	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr4:159566103T>G	ENST00000307765.5	+	15	1409	c.1158T>G	c.(1156-1158)gtT>gtG	p.V386V	RXFP1_ENST00000460056.2_Silent_p.V305V|RXFP1_ENST00000470033.1_Silent_p.V353V|RXFP1_ENST00000448688.2_Silent_p.V281V|RXFP1_ENST00000343542.5_Silent_p.V338V	NM_001253727.1|NM_001253728.1|NM_001253730.1|NM_001253732.1|NM_001253733.1|NM_021634.3	NP_001240656.1|NP_001240657.1|NP_001240659.1|NP_001240661.1|NP_001240662.1|NP_067647.2	Q9HBX9	RXFP1_HUMAN	relaxin/insulin-like family peptide receptor 1	386						integral to membrane|plasma membrane	G-protein coupled receptor activity|metal ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|liver(2)|lung(22)|prostate(1)|skin(10)	49	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.0219)		CACCACATGTTCGCAGCTGTA	0.368													G	159566103	T	G	159566103	2	3	666	1	0	0	0	0	0	0	0	1	13850	1770	62	5		5	RXFP1	4	159566103	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	46105007	159566103	31588173	13	52739											
MTRR	4552	broad.mit.edu	37	chr5	7900165	7900165	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgctaccttcaggatatttgGtcataaaaccagaaattaaa	16	11	6	8	1	2	1	2	0	0	1	2	2	2	2	2	2	2	1	2	2	7	6			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:7900165G>A	ENST00000264668.2	+	15	2202	c.2172G>A	c.(2170-2172)tgG>tgA	p.W724*	MTRR_ENST00000440940.2_Nonsense_Mutation_p.W697*	NM_002454.2|NM_024010.2	NP_002445.2|NP_076915.2	Q9UBK8	MTRR_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase reductase	724					methionine biosynthetic process	cytosol	[methionine synthase] reductase activity|flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(14)|ovary(1)|prostate(3)|stomach(1)	31					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)	AGGATATTTGGTCATAAAACC	0.323													A	7900165	G	A	7900165	4	1	666	1	0	0	0	0	0	1	0	0	10037	1270	44	2	2230	2	MTRR	5	7900165	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		7900165	173015095	14	52740											
CSF2	1437	broad.mit.edu	37	chr5	131409549	131409549	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcctgctgctcttgggcacTgtggcctgcagcatctctgc	4	11	12	14	0	2	0	0	0	2	0	3	0	2	0	2	2	6	5	2	2	0	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:131409549T>G	ENST00000296871.2	+	1	67	c.33T>G	c.(31-33)acT>acG	p.T11T		NM_000758.3	NP_000749.2	P04141	CSF2_HUMAN	colony stimulating factor 2 (granulocyte-macrophage)	11					immune response|negative regulation of cytolysis|positive regulation of DNA replication|positive regulation of interleukin-23 production|positive regulation of macrophage derived foam cell differentiation|positive regulation of podosome assembly|positive regulation of tyrosine phosphorylation of Stat5 protein	extracellular space	cytokine activity|granulocyte macrophage colony-stimulating factor receptor binding|growth factor activity			skin(1)	1		all_cancers(142;4.28e-07)|all_lung(232;2.81e-05)|Lung NSC(810;0.000693)|Lung SC(612;0.122)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Sargramostim(DB00020)	TCTTGGGCACTGTGGCCTGCA	0.602													G	131409549	T	G	131409549	2	3	666	1	0	0	0	0	0	0	0	1	3966	1567	55	5		5	CSF2	5	131409549	Silent	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	123509384	131409549	49505711	15	52741											
TRPC7	57113	broad.mit.edu	37	chr5	135601935	135601935	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccacttcataatgagcatttCtgtccaggagaactgtgtgg	10	12	10	9	0	2	2	1	1	1	1	3	3	3	2	2	2	2	1	2	2	2	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:135601935C>T	ENST00000513104.1	-	5	1600	c.1318G>A	c.(1318-1320)Gaa>Aaa	p.E440K	TRPC7_ENST00000355180.3_Missense_Mutation_p.E379K|TRPC7_ENST00000426057.2_Missense_Mutation_p.E324K	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	440					axon guidance|platelet activation	integral to membrane|plasma membrane	calcium channel activity|protein binding			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ATGAGCATTTCTGTCCAGGAG	0.378													T	135601935	C	T	135601935	3	4	666	1	0	0	0	0	1	0	0	0	16685	922	32	2	1302	2	TRPC7	5	135601935	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	4192386	135601935	45313325	16	52742											
ARHGAP26	23092	broad.mit.edu	37	chr5	142500615	142500615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttggtgtggtgtttggacCcactctgctgaggcctcagg	4	12	14	11	0	2	1	1	1	1	0	2	2	2	2	3	5	1	2	3	5	0	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:142500615C>T	ENST00000378004.3	+	18	1956	c.1601C>T	c.(1600-1602)cCc>cTc	p.P534L	ARHGAP26_ENST00000274498.4_Missense_Mutation_p.P534L	NM_001135608.1	NP_001129080.1	Q9UNA1	RHG26_HUMAN	Rho GTPase activating protein 26	534	Rho-GAP.				actin cytoskeleton organization|filopodium assembly|nervous system development|small GTPase mediated signal transduction	cytoskeleton|cytosol|focal adhesion	cytoskeletal adaptor activity|Rho GTPase activator activity|SH3 domain binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(7)|ovary(1)	25		all_hematologic(541;0.0416)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GTGTTTGGACCCACTCTGCTG	0.438													T	142500615	C	T	142500615	3	4	666	1	0	0	0	0	1	0	0	0	878	623	22	2	1671	2	ARHGAP26	5	142500615	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6898680	142500615	38414645	17	52743											
KIF4B	285643	broad.mit.edu	37	chr5	154395583	154395583	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatgctctccagaaacaaCgagaggtcacagataagcgg	15	5	12	9	2	2	3	1	0	1	3	3	5	2	4	1	3	4	1	1	3	3	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:154395583C>T	ENST00000435029.4	+	1	2324	c.2164C>T	c.(2164-2166)Cga>Tga	p.R722*		NM_001099293.1	NP_001092763.1	Q2VIQ3	KIF4B_HUMAN	kinesin family member 4B	722	Interaction with PRC1 (By similarity).				axon guidance|blood coagulation|microtubule-based movement	cytosol|microtubule|nuclear matrix	ATP binding|DNA binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(13)|lung(27)|ovary(2)|upper_aerodigestive_tract(1)	58	Renal(175;0.00488)	Medulloblastoma(196;0.0523)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			CCAGAAACAACGAGAGGTCAC	0.468													T	154395583	C	T	154395583	4	4	666	1	0	0	0	0	0	1	0	0	8362	528	19	1	2166	1	KIF4B	5	154395583	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	11894968	154395583	26519677	18	52744											
CLK4	57396	broad.mit.edu	37	chr5	178030707	178030707	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatattctaacattcttcGaaccaggtcaaacagtttct	13	14	4	10	1	5	0	2	0	3	0	6	1	5	0	1	1	3	1	1	1	4	6			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:178030707G>A	ENST00000316308.4	-	13	1525	c.1357C>T	c.(1357-1359)Cga>Tga	p.R453*		NM_020666.2	NP_065717.1	Q9HAZ1	CLK4_HUMAN	CDC-like kinase 4	453	Protein kinase.					nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|skin(2)	21	all_cancers(89;0.000969)|Renal(175;0.000159)|all_epithelial(37;0.000451)|Lung NSC(126;0.00545)|all_lung(126;0.00918)	all_cancers(40;0.0272)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.235)		AACATTCTTCGAACCAGGTCA	0.318													A	178030707	G	A	178030707	4	1	666	1	0	0	0	0	0	1	0	0	3570	1066	37	1	92	1	CLK4	5	178030707	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	23635124	178030707	2884553	19	52745											
FLT4	2324	broad.mit.edu	37	chr5	180056400	180056400	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgggtctgctgggagcgtcGctcgggcacccacttacccc	4	8	14	15	3	1	0	0	0	1	0	3	1	1	1	3	3	3	3	3	3	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr5:180056400G>A	ENST00000261937.6	-	7	922	c.844C>T	c.(844-846)Cga>Tga	p.R282*	FLT4_ENST00000393347.3_Nonsense_Mutation_p.R282*|FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Nonsense_Mutation_p.R282*	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	282	Ig-like C2-type 3.				positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	TGGGAGCGTCGCTCGGGCACC	0.662													A	180056400	G	A	180056400	4	1	666	1	0	0	0	0	0	1	0	0	5993	1095	38	1	3351	1	FLT4	5	180056400	Nonsense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2025693	180056400	858860	20	52746											
RANBP9	10048	broad.mit.edu	37	chr6	13642747	13642747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggaagctaattcttctagaaCggtctggtctgtagatctgg	9	13	12	7	1	5	2	0	0	5	2	5	3	5	3	0	4	2	2	0	4	5	5			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:13642747C>T	ENST00000011619.3	-	7	1247	c.1189G>A	c.(1189-1191)Gtt>Att	p.V397I	RANBP9_ENST00000539980.1_Missense_Mutation_p.V168I	NM_005493.2	NP_005484.2	Q96S59	RANB9_HUMAN	RAN binding protein 9	397	LisH.				axon guidance|microtubule nucleation|protein complex assembly	cytosol|microtubule associated complex|nucleus	Ran GTPase binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	16	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.223)			TCTTCTAGAACGGTCTGGTCT	0.363													T	13642747	C	T	13642747	3	4	666	1	0	0	0	0	1	0	0	0	13120	536	19	1	1032	1	RANBP9	6	13642747	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		13642747	157472320	21	52747											
PKHD1	5314	broad.mit.edu	37	chr6	51656142	51656142	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atacagccctttgaagaatgGaagatctgtatccacaagga	15	9	9	8	0	1	3	0	1	1	2	2	5	2	5	2	2	2	1	2	2	6	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:51656142G>A	ENST00000371117.3	-	53	8607	c.8332C>T	c.(8332-8334)Cca>Tca	p.P2778S	PKHD1_ENST00000340994.4_Missense_Mutation_p.P2778S	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2778	G8 2.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTGAAGAATGGAAGATCTGTA	0.453													A	51656142	G	A	51656142	3	1	666	1	0	0	0	0	1	0	0	0	12048	1174	41	2	3991	2	PKHD1	6	51656142	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	38013395	51656142	119458925	22	52748											
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctttcacagttaggtccaGcataattttcgttacaaatg	12	14	6	9	1	1	0	1	0	0	0	3	0	2	0	2	1	2	3	2	1	4	6			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000524032.1_5'UTR|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388													A	112522827	G	A	112522827	3	1	666	1	0	0	0	0	1	0	0	0	8667	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	60866685	112522827	58592240	23	52749											
TAAR8	83551	broad.mit.edu	37	chr6	132874647	132874647	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgttatttcatggttaccGtatacagttgatatattaat	11	20	6	4	1	1	1	1	1	0	0	1	1	1	1	1	1	2	4	1	1	7	10			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr6:132874647G>A	ENST00000275200.1	+	1	816	c.816G>A	c.(814-816)ccG>ccA	p.P272P		NM_053278.1	NP_444508.1	Q969N4	TAAR8_HUMAN	trace amine associated receptor 8	272						plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(2)|lung(14)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.00412)|GBM - Glioblastoma multiforme(226;0.00792)		CATGGTTACCGTATACAGTTG	0.413													A	132874647	G	A	132874647	2	1	666	1	0	0	0	0	0	0	0	1	15590	1132	40	1		1	TAAR8	6	132874647	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	20351820	132874647	38240420	24	52750											
ADAP1	11033	broad.mit.edu	37	chr7	944779	944779	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaactgcccgttgtcccggCcacgcttccagagaaaaccc	11	6	8	16	3	0	1	0	0	0	1	2	2	2	1	5	1	3	2	5	1	4	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:944779C>G	ENST00000265846.5	-	5	638	c.419G>C	c.(418-420)gGc>gCc	p.G140A	ADAP1_ENST00000539900.1_Missense_Mutation_p.G151A|ADAP1_ENST00000449296.2_Missense_Mutation_p.G68A|ADAP1_ENST00000463358.1_5'UTR	NM_001284308.1|NM_001284309.1|NM_001284311.1|NM_006869.2	NP_001271237.1|NP_001271238.1|NP_001271240.1|NP_006860	O75689	ADAP1_HUMAN	ArfGAP with dual PH domains 1	140	PH 1.				cell surface receptor linked signaling pathway|regulation of ARF GTPase activity	cytoplasm|nucleus|plasma membrane	ARF GTPase activator activity|inositol 1,3,4,5 tetrakisphosphate binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|lung(3)|upper_aerodigestive_tract(1)	6						GTTGTCCCGGCCACGCTTCCA	0.552													G	944779	C	G	944779	3	3	666	1	0	0	0	0	1	0	0	0	279	739	26	4	733	4	ADAP1	7	944779	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		944779	158193884	25	52751											
THSD7A	221981	broad.mit.edu	37	chr7	11452289	11452289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgatccatgtacctgttaCattataatcatagtggtagc	12	14	8	7	0	1	1	1	1	0	0	2	2	2	1	2	1	3	3	2	1	6	6			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:11452289C>T	ENST00000423059.4	-	18	3927	c.3676G>A	c.(3676-3678)Gta>Ata	p.V1226I	AC004160.4_ENST00000425837.1_RNA|AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 12.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		GTACCTGTTACATTATAATCA	0.423										HNSCC(18;0.044)			T	11452289	C	T	11452289	3	4	666	1	0	0	0	0	1	0	0	0	15979	478	17	2	1341	2	THSD7A	7	11452289	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	10507510	11452289	147686374	26	52752											
GRM3	2913	broad.mit.edu	37	chr7	86469169	86469169	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccatgtacaccacgtgcaTcatctggttggccttcctcc	7	12	7	15	1	2	0	1	0	1	0	4	0	4	0	5	2	3	3	5	2	2	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:86469169T>C	ENST00000361669.2	+	4	3438	c.2339T>C	c.(2338-2340)aTc>aCc	p.I780T	GRM3_ENST00000394720.2_Intron|GRM3_ENST00000536043.1_Missense_Mutation_p.I652T|GRM3_ENST00000439827.1_Intron|GRM3_ENST00000546348.1_Missense_Mutation_p.I372T	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	780					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	ACCACGTGCATCATCTGGTTG	0.413													C	86469169	T	C	86469169	3	2	666	1	0	0	0	0	1	0	0	0	6853	1435	50	3	2349	3	GRM3	7	86469169	Missense_Mutation	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	75016880	86469169	72669494	27	52753											
GRM8	2918	broad.mit.edu	37	chr7	126173225	126173225	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgtcacacttgagcactccCctggccttctctggatctag	7	12	8	14	0	3	1	1	1	2	0	5	2	4	2	3	2	1	1	3	2	1	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:126173225C>T	ENST00000339582.2	-	9	3019	c.2211G>A	c.(2209-2211)agG>agA	p.R737R	GRM8_ENST00000444921.2_Silent_p.R737R|GRM8_ENST00000358373.3_Silent_p.R737R|GRM8_ENST00000480995.1_5'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	737					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGAGCACTCCCCTGGCCTTCT	0.473										HNSCC(24;0.065)			T	126173225	C	T	126173225	2	4	666	1	0	0	0	0	0	0	0	1	6858	622	22	2		2	GRM8	7	126173225	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	39704056	126173225	32965438	28	52754											
ADCK2	90956	broad.mit.edu	37	chr7	140374051	140374051	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaccaacctcatctcCgtggcagtgaaagtaagtgt	11	8	11	11	1	2	1	1	1	1	0	3	2	2	1	4	2	1	2	4	2	3	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr7:140374051C>T	ENST00000072869.4	+	1	1099	c.921C>T	c.(919-921)tcC>tcT	p.S307S	ADCK2_ENST00000476491.1_Silent_p.S307S	NM_052853.3	NP_443085.2	Q7Z695	ADCK2_HUMAN	aarF domain containing kinase 2	307	Protein kinase.		S -> P (in dbSNP:rs1140034).			integral to membrane	ATP binding|protein serine/threonine kinase activity			cervix(1)|kidney(2)|large_intestine(2)|lung(5)|prostate(1)|skin(4)	15	Melanoma(164;0.00956)					ACCTCATCTCCGTGGCAGTGA	0.552													T	140374051	C	T	140374051	2	4	666	1	0	0	0	0	0	0	0	1	289	639	23	1		1	ADCK2	7	140374051	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	14200826	140374051	18764612	29	52755											
SGK223	157285	broad.mit.edu	37	chr8	8175831	8175831	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catcagggcccgcttcatgtCgatccagttgtgcagcgtgc	6	10	12	13	3	2	0	2	0	0	0	4	1	3	0	2	1	3	3	2	1	0	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:8175831C>T	ENST00000520004.1	-	6	4318	c.4054G>A	c.(4054-4056)Gac>Aac	p.D1352N	SGK223_ENST00000330777.4_Missense_Mutation_p.D1352N			Q86YV5	SG223_HUMAN		1352							ATP binding|non-membrane spanning protein tyrosine kinase activity										CGCTTCATGTCGATCCAGTTG	0.677													T	8175831	C	T	8175831	3	4	666	1	0	0	0	0	1	0	0	0	14303	884	31	1	158	1	SGK223	8	8175831	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		8175831	138188191	30	52756											
LGI3	203190	broad.mit.edu	37	chr8	22006354	22006354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggcttgcgcacgcgctgcggGtcaatgtcttgcagcctggt	4	10	15	12	4	2	0	1	0	1	0	2	0	2	0	1	3	4	4	1	3	1	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:22006354G>A	ENST00000306317.2	-	8	1255	c.966C>T	c.(964-966)gaC>gaT	p.D322D	LGI3_ENST00000424267.2_Silent_p.D298D	NM_139278.2	NP_644807.1	Q8N145	LGI3_HUMAN	leucine-rich repeat LGI family, member 3	322					exocytosis	cell junction|extracellular region|synaptic vesicle|synaptosome				endometrium(4)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	17				Colorectal(74;0.00189)|COAD - Colon adenocarcinoma(73;0.0612)|READ - Rectum adenocarcinoma(644;0.0999)		CGCGCTGCGGGTCAATGTCTT	0.612													A	22006354	G	A	22006354	2	1	666	1	0	0	0	0	0	0	0	1	8813	1252	44	2		2	LGI3	8	22006354	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	13830523	22006354	124357668	31	52757											
PURG	29942	broad.mit.edu	37	chr8	30854163	30854163	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttccttatgcttgatttgAcaacagtgaaaaaggttgat	12	15	9	5	0	0	4	0	4	0	0	1	4	1	4	1	1	2	3	1	1	4	5			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:30854163A>T	ENST00000339382.2	-	2	1847	c.915T>A	c.(913-915)tgT>tgA	p.C305*		NM_001015508.1	NP_001015508.1	Q9UJV8	PURG_HUMAN	purine-rich element binding protein G	0						nucleus	DNA binding			endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|urinary_tract(1)	12				KIRC - Kidney renal clear cell carcinoma(542;0.0895)|Kidney(114;0.108)		GCTTGATTTGACAACAGTGAA	0.338													T	30854163	A	T	30854163	4	4	666	1	0	0	0	0	0	1	0	0	12917	273	10	5	57	5	PURG	8	30854163	Nonsense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08	8847809	30854163	115509859	32	52758											
RB1CC1	9821	broad.mit.edu	37	chr8	53596200	53596200	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttccatgtcattttctgtcGaaaaggtagttttaggaata	11	17	8	5	1	2	0	1	0	1	0	4	2	3	1	1	2	0	2	1	2	6	7			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr8:53596200G>A	ENST00000025008.5	-	5	801	c.278C>T	c.(277-279)tCg>tTg	p.S93L	RB1CC1_ENST00000539297.1_Missense_Mutation_p.S93L|RB1CC1_ENST00000521611.1_Intron|RB1CC1_ENST00000435644.2_Missense_Mutation_p.S93L	NM_014781.4	NP_055596.3	Q8TDY2	RBCC1_HUMAN	RB1-inducible coiled-coil 1	93					autophagy|cell cycle|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus|pre-autophagosomal structure|ULK1-ATG13-FIP200 complex	protein binding			NS(2)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(19)|ovary(8)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	60		all_cancers(86;0.137)|all_epithelial(80;0.00494)|Lung NSC(129;0.011)|all_lung(136;0.023)				ATTTTCTGTCGAAAAGGTAGT	0.323													A	53596200	G	A	53596200	3	1	666	1	0	0	0	0	1	0	0	0	13187	1059	37	1	4586	1	RB1CC1	8	53596200	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	22742037	53596200	92767822	33	52759											
TBC1D2	55357	broad.mit.edu	37	chr9	100963794	100963794	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tacaggaaggcatcccagacCcgaaggaggatgttgctaat	13	7	12	9	1	0	1	0	0	0	1	1	5	1	4	2	4	2	3	2	4	4	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:100963794C>A	ENST00000375066.5	-	11	2515	c.2424G>T	c.(2422-2424)cgG>cgT	p.R808R	TBC1D2_ENST00000342112.5_Silent_p.R590R|TBC1D2_ENST00000375063.1_Silent_p.R348R|TBC1D2_ENST00000375064.1_Silent_p.R808R	NM_018421.3	NP_060891.3	Q9BYX2	TBD2A_HUMAN	TBC1 domain family, member 2	808	Rab-GAP TBC.					cell junction|cytoplasmic membrane-bounded vesicle|nucleus	Rab GTPase activator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.55e-37)		CATCCCAGACCCGAAGGAGGA	0.607													A	100963794	C	A	100963794	2	1	666	1	0	0	0	0	0	0	0	1	15705	610	22	4		4	TBC1D2	9	100963794	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		100963794	40249637	34	52760											
OR1L8	138881	broad.mit.edu	37	chr9	125330260	125330260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtcacagaaggtgagaCgattcagcagaagtgtgtgc	12	8	15	6	1	2	3	2	1	0	3	2	6	2	4	0	2	2	1	0	2	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr9:125330260C>T	ENST00000304865.2	-	1	578	c.497G>A	c.(496-498)cGt>cAt	p.R166H		NM_001004454.1	NP_001004454.1	Q8NGR8	OR1L8_HUMAN	olfactory receptor, family 1, subfamily L, member 8	166					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						GAAGGTGAGACGATTCAGCAG	0.498													T	125330260	C	T	125330260	3	4	666	1	0	0	0	0	1	0	0	0	11043	536	19	1	436	1	OR1L8	9	125330260	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	24366466	125330260	15883171	35	52761											
INA	9118	broad.mit.edu	37	chr10	105037228	105037228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcggcgcgcaccaacgagtAcaagatcatccgcaccaacg	12	3	11	15	6	1	1	1	0	0	1	2	2	2	1	3	2	3	3	3	2	4	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr10:105037228A>G	ENST00000369849.4	+	1	309	c.260A>G	c.(259-261)tAc>tGc	p.Y87C		NM_032727.3	NP_116116.1	Q16352	AINX_HUMAN	internexin neuronal intermediate filament protein, alpha	87	Head.				cell differentiation|nervous system development	neurofilament	structural constituent of cytoskeleton			breast(2)|endometrium(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)	13				Epithelial(162;3.45e-09)|all cancers(201;9.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.198)		ACCAACGAGTACAAGATCATC	0.682													G	105037228	A	G	105037228	3	3	666	1	0	0	0	0	1	0	0	0	7788	391	14	3	262	3	INA	10	105037228	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		105037228	30497519	36	52762											
OR52M1	119772	broad.mit.edu	37	chr11	4566788	4566788	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttgccatggcttttgAtcgctacgtggccatctgca	5	14	9	13	2	1	1	0	1	1	0	3	1	2	1	3	2	3	3	3	2	1	5			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:4566788A>C	ENST00000360213.1	+	1	368	c.368A>C	c.(367-369)gAt>gCt	p.D123A		NM_001004137.1	NP_001004137.1	Q8NGK5	O52M1_HUMAN	olfactory receptor, family 52, subfamily M, member 1	123					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(2)|lung(9)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;8.45e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0285)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCTTTTGATCGCTACGTG	0.537													C	4566788	A	C	4566788	3	2	666	1	0	0	0	0	1	0	0	0	11202	333	12	5	370	5	OR52M1	11	4566788	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		4566788	130439728	37	52763											
OR52E2	119678	broad.mit.edu	37	chr11	5080741	5080741	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgaagttccctatgagtgcGatcatgtacacagcacagaa	13	9	10	9	1	1	3	1	2	0	1	2	4	2	3	1	0	3	3	1	0	4	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:5080741G>A	ENST00000321522.2	-	1	116	c.117C>T	c.(115-117)atC>atT	p.I39I		NM_001005164.2	NP_001005164.2	Q8NGJ4	O52E2_HUMAN	olfactory receptor, family 52, subfamily E, member 2	39					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|lung(13)|ovary(2)|skin(3)	20		Medulloblastoma(188;0.0061)|all_neural(188;0.0479)|Breast(177;0.086)		Epithelial(150;1.03e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGAGTGCGATCATGTACA	0.512													A	5080741	G	A	5080741	2	1	666	1	0	0	0	0	0	0	0	1	11191	1048	37	1		1	OR52E2	11	5080741	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	513953	5080741	129925775	38	52764											
HPS5	11234	broad.mit.edu	37	chr11	18309134	18309134	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctaaataggccaaaaactCagcaggatgatgatgacaaa	18	7	9	7	0	2	3	1	3	1	0	2	4	2	4	1	2	2	1	1	2	6	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:18309134C>T	ENST00000396253.3	-	17	2785	c.2323G>A	c.(2323-2325)Gag>Aag	p.E775K	HPS5_ENST00000349215.3_Missense_Mutation_p.E889K|HPS5_ENST00000438420.2_Missense_Mutation_p.E775K|HPS5_ENST00000352460.3_5'UTR	NM_007216.3	NP_009147.3	Q9UPZ3	HPS5_HUMAN	Hermansky-Pudlak syndrome 5	889						cytosol				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						GCCAAAAACTCAGCAGGATGA	0.428									Hermansky-Pudlak syndrome				T	18309134	C	T	18309134	3	4	666	1	0	0	0	0	1	0	0	0	7397	835	29	2	748	2	HPS5	11	18309134	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	13228393	18309134	116697382	39	52765											
PAMR1	25891	broad.mit.edu	37	chr11	35463135	35463135	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacaaaagaaagacaccacGgtgccaattttagcatggcg	15	8	9	9	2	0	2	0	0	0	2	0	2	0	2	2	2	3	1	2	2	6	3	rs150252565		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:35463135G>A	ENST00000378880.2	-	7	1372	c.927C>T	c.(925-927)acC>acT	p.T309T	PAMR1_ENST00000278360.3_Silent_p.T326T|PAMR1_ENST00000532848.1_Silent_p.T269T|PAMR1_ENST00000378878.3_Silent_p.T198T	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	309	Sushi 1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						AAGACACCACGGTGCCAATTT	0.493													A	35463135	G	A	35463135	2	1	666	1	0	0	0	0	0	0	0	1	11489	1103	39	1		1	PAMR1	11	35463135	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	17154001	35463135	99543381	40	52766											
CWC15	51503	broad.mit.edu	37	chr11	94704160	94704160	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctgttagagggtcatctGcatcaaggttggcggcagga	9	10	14	8	1	4	1	2	0	2	1	4	2	4	2	0	5	1	4	0	5	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:94704160G>C	ENST00000279839.6	-	4	436	c.314C>G	c.(313-315)gCa>gGa	p.A105G	CWC15_ENST00000545018.1_5'UTR	NM_016403.3	NP_057487.2	Q9P013	CWC15_HUMAN	CWC15 spliceosome-associated protein homolog (S. cerevisiae)	105					nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome	protein binding|RNA binding						Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AGGGTCATCTGCATCAAGGTT	0.378													C	94704160	G	C	94704160	3	2	666	1	0	0	0	0	1	0	0	0	4100	1319	46	4	390	4	CWC15	11	94704160	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	59241025	94704160	40302356	41	52767											
ADAMTS15	170689	broad.mit.edu	37	chr11	130343448	130343448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcagtggcctgcagaagcGggcggtggactgccggggct	5	5	20	11	4	0	1	0	0	0	1	0	2	0	2	2	7	3	3	2	7	1	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr11:130343448G>A	ENST00000299164.2	+	8	2585	c.2585G>A	c.(2584-2586)cGg>cAg	p.R862Q		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	862	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		CTGCAGAAGCGGGCGGTGGAC	0.746													A	130343448	G	A	130343448	3	1	666	1	0	0	0	0	1	0	0	0	260	1116	39	1	2615	1	ADAMTS15	11	130343448	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	35639288	130343448	4663068	42	52768											
NTF3	4908	broad.mit.edu	37	chr12	5603421	5603421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatttctcgcttatctccGtggcatccaaggtaacaaca	11	12	7	11	2	2	0	0	0	2	0	5	1	3	0	2	2	2	3	2	2	5	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:5603421G>A	ENST00000423158.3	+	2	292	c.80G>A	c.(79-81)cGt>cAt	p.R27H	NTF3_ENST00000535299.1_Intron|NTF3_ENST00000331010.6_Missense_Mutation_p.R14H	NM_001102654.1	NP_001096124.1	P20783	NTF3_HUMAN	neurotrophin 3	14					signal transduction	extracellular region	growth factor activity|neurotrophin receptor binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(3)|upper_aerodigestive_tract(1)	22						GCTTATCTCCGTGGCATCCAA	0.418													A	5603421	G	A	5603421	3	1	666	1	0	0	0	0	1	0	0	0	10772	1145	40	1	86	1	NTF3	12	5603421	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		5603421	128248474	43	52769											
CD163L1	283316	broad.mit.edu	37	chr12	7526068	7526068	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttagataaaggggcgaggCtgacaactccattctcccca	11	9	9	12	1	2	2	0	1	2	1	4	3	3	2	3	3	1	1	3	3	4	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:7526068C>T	ENST00000313599.3	-	14	3635	c.3578G>A	c.(3577-3579)aGc>aAc	p.S1193N	CD163L1_ENST00000416109.2_Missense_Mutation_p.S1203N|CD163L1_ENST00000396630.1_Missense_Mutation_p.S1193N			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1193	SRCR 11.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						AGGGGCGAGGCTGACAACTCC	0.552													T	7526068	C	T	7526068	3	4	666	1	0	0	0	0	1	0	0	0	2998	797	28	2	807	2	CD163L1	12	7526068	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	1922647	7526068	126325827	44	52770											
KLRB1	3820	broad.mit.edu	37	chr12	9760369	9760369	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accccgaggaagagatgaagGtgaagaactttctgggcctg	12	7	14	8	1	1	4	0	2	1	2	1	7	1	5	3	3	1	0	3	3	4	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:9760369G>T	ENST00000229402.3	-	1	113	c.67C>A	c.(67-69)Cct>Act	p.P23T		NM_002258.2	NP_002249.1	Q12918	KLRB1_HUMAN	killer cell lectin-like receptor subfamily B, member 1	23					cell surface receptor linked signaling pathway	integral to membrane|plasma membrane	sugar binding|transmembrane receptor activity			endometrium(2)|large_intestine(6)|lung(4)	12						AGAGATGAAGGTGAAGAACTT	0.413													T	9760369	G	T	9760369	3	4	666	1	0	0	0	0	1	0	0	0	8472	1261	44	4	633	4	KLRB1	12	9760369	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2234301	9760369	124091526	45	52771											
IGFBP6	3489	broad.mit.edu	37	chr12	53491737	53491737	+	Frame_Shift_Del	DEL	C	C	-																															ggtctacacccctaactgcgCcccaggactgcagtgccatc																										TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:53491737delC	ENST00000548547.1	+	1	518	c.236delC	c.(235-237)gccfs	p.A79fs	IGFBP6_ENST00000301464.3_Frame_Shift_Del_p.A79fs			P24592	IBP6_HUMAN	insulin-like growth factor binding protein 6	79	IGFBP N-terminal.				negative regulation of cell proliferation|regulation of cell growth|signal transduction					large_intestine(1)|lung(3)|ovary(1)|pancreas(1)	6						CCTAACTGCGCCCCAGGACTG	0.726													-	53491737	C	-	53491737	7	5	666	1	0	1	0	1	0	0	0	0	7641	739	26	0	238	0	IGFBP6	12	53491737	Frame_Shift_Del	DEL	C	TCGA-QH-A6CV-01A-11D-A31L-08	43731368	53491737	80360158	46	52772											
RIMBP2	23504	broad.mit.edu	37	chr12	130919312	130919312	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagcctttcaggaagtcGtccaccgaggcgcccctcct	7	8	10	16	3	2	1	2	0	0	1	5	3	4	2	6	2	1	0	6	2	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr12:130919312G>A	ENST00000261655.4	-	11	2332	c.2169C>T	c.(2167-2169)gaC>gaT	p.D723D	RIMBP2_ENST00000535703.1_Silent_p.D631D|RIMBP2_ENST00000536002.1_Silent_p.D631D	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	723						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		TCAGGAAGTCGTCCACCGAGG	0.667													A	130919312	G	A	130919312	2	1	666	1	0	0	0	0	0	0	0	1	13452	1136	40	1		1	RIMBP2	12	130919312	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	77427575	130919312	2932583	47	52773											
PROZ	8858	broad.mit.edu	37	chr13	113819403	113819403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgctgacctctgagaagcGtgcaccggatctacaggacc	9	7	13	12	2	2	2	0	2	2	1	2	5	2	4	3	3	4	2	3	3	2	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr13:113819403G>A	ENST00000342783.4	+	7	615	c.608G>A	c.(607-609)cGt>cAt	p.R203H	PROZ_ENST00000493630.1_3'UTR|PROZ_ENST00000375547.2_Missense_Mutation_p.R181H|RP11-98F14.11_ENST00000600642.1_RNA	NM_001256134.1	NP_001243063.1	P22891	PROZ_HUMAN	protein Z, vitamin K-dependent plasma glycoprotein	181	Peptidase S1.				blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|serine-type endopeptidase activity			NS(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(4)|prostate(2)|skin(2)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_lung(25;0.216)	all cancers(43;0.104)		Menadione(DB00170)	TCTGAGAAGCGTGCACCGGAT	0.507													A	113819403	G	A	113819403	3	1	666	1	0	0	0	0	1	0	0	0	12648	1145	40	1	564	1	PROZ	13	113819403	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		113819403	1350475	48	52774											
OR4K15	81127	broad.mit.edu	37	chr14	20444015	20444015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcagactttctggttgagcGcaagactatttcttttgatg	8	16	10	7	1	2	4	0	2	2	2	2	4	2	4	0	1	2	3	0	1	2	6	rs139377821	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr14:20444015G>A	ENST00000305051.5	+	1	413	c.338G>A	c.(337-339)cGc>cAc	p.R113H		NM_001005486.1	NP_001005486.1	Q8NH41	OR4KF_HUMAN	olfactory receptor, family 4, subfamily K, member 15	113					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R113H(1)		endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|ovary(1)|prostate(2)|skin(1)|stomach(1)	39	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;3.58e-06)	GBM - Glioblastoma multiforme(265;0.00327)		CTGGTTGAGCGCAAGACTATT	0.453													A	20444015	G	A	20444015	3	1	666	1	0	0	0	0	1	0	0	0	11146	1087	38	1	340	1	OR4K15	14	20444015	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		20444015	86905525	49	52775											
OCA2	4948	broad.mit.edu	37	chr15	28259949	28259949	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcagcgcgtagacgccCgcgaggatggccgtcgcgat	8	6	15	12	8	1	2	1	1	0	1	2	5	1	3	2	2	1	1	2	2	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:28259949C>T	ENST00000354638.3	-	9	1172	c.1017G>A	c.(1015-1017)gcG>gcA	p.A339A	OCA2_ENST00000353809.5_Silent_p.A339A|OCA2_ENST00000382996.2_Silent_p.A339A	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	339					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CGTAGACGCCCGCGAGGATGG	0.587									Oculocutaneous Albinism				T	28259949	C	T	28259949	2	4	666	1	0	0	0	0	0	0	0	1	10891	639	23	1		1	OCA2	15	28259949	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		28259949	74271443	50	52776											
RASGRF1	5923	broad.mit.edu	37	chr15	79310181	79310181	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggatgactgtaaagggCggggaatcctttggctccac	10	9	13	9	1	0	1	0	1	0	0	2	3	2	3	2	5	0	2	2	5	4	3	rs146264269	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr15:79310181C>T	ENST00000419573.3	-	12	1948	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Silent_p.P558P	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	558	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity	p.P558P(1)		breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CTGTAAAGGGCGGGGAATCCT	0.512													T	79310181	C	T	79310181	2	4	666	1	0	0	0	0	0	0	0	1	13160	755	27	1		1	RASGRF1	15	79310181	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	51050232	79310181	23221211	51	52777											
RSPRY1	89970	broad.mit.edu	37	chr16	57238591	57238591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatcgtctttggttgggcCgtgttcttagcgagcagaag	7	13	14	7	3	2	2	0	1	2	1	3	3	2	2	1	2	2	3	1	2	2	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr16:57238591C>T	ENST00000537866.1	+	2	894	c.21C>T	c.(19-21)gcC>gcT	p.A7A	RSPRY1_ENST00000394420.4_Silent_p.A7A			Q96DX4	RSPRY_HUMAN	ring finger and SPRY domain containing 1	7						extracellular region	zinc ion binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|urinary_tract(3)	27						TTGGTTGGGCCGTGTTCTTAG	0.463													T	57238591	C	T	57238591	2	4	666	1	0	0	0	0	0	0	0	1	13804	639	23	1		1	RSPRY1	16	57238591	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		57238591	33116162	52	52778											
MINK1	50488	broad.mit.edu	37	chr17	4798523	4798523	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcaactccgagatcctctGtgcagccctttggggtaagc	8	11	10	12	1	2	1	1	0	1	1	4	2	4	1	3	2	4	2	3	2	2	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:4798523G>A	ENST00000355280.6	+	25	3267	c.3071G>A	c.(3070-3072)tGt>tAt	p.C1024Y	MINK1_ENST00000347992.7_Missense_Mutation_p.C995Y|MINK1_ENST00000453408.3_Missense_Mutation_p.C1004Y	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2	Q8N4C8	MINK1_HUMAN	misshapen-like kinase 1	1024	CNH.|Mediates interaction with RAP2A.				JNK cascade	cytoplasm	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						GAGATCCTCTGTGCAGCCCTT	0.597													A	4798523	G	A	4798523	3	1	666	1	0	0	0	0	1	0	0	0	9662	1377	48	2	2936	2	MINK1	17	4798523	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		4798523	76396687	53	52779											
DNAH2	146754	broad.mit.edu	37	chr17	7700732	7700732	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacagagtcttctctgaccGgctggttgatgcggcagaca	8	9	12	12	2	2	4	0	2	2	2	3	4	2	4	2	3	1	3	2	3	0	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:7700732G>A	ENST00000572933.1	+	52	9424	c.7964G>A	c.(7963-7965)cGg>cAg	p.R2655Q	DNAH2_ENST00000389173.2_Missense_Mutation_p.R2655Q			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	2655					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TTCTCTGACCGGCTGGTTGAT	0.547													A	7700732	G	A	7700732	3	1	666	1	0	0	0	0	1	0	0	0	4641	1116	39	1	8166	1	DNAH2	17	7700732	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	2902209	7700732	73494478	54	52780											
SSH2	85464	broad.mit.edu	37	chr17	27959167	27959167	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcctggtatggaatcacagtCctcagatccttcaggactcc	9	11	8	13	0	3	1	3	0	0	1	7	3	7	3	4	3	0	1	4	3	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:27959167C>T	ENST00000269033.3	-	15	3115	c.2964G>A	c.(2962-2964)agG>agA	p.R988R	RP11-68I3.2_ENST00000581474.1_RNA|SSH2_ENST00000540801.1_Silent_p.R1015R	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	988					actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GAATCACAGTCCTCAGATCCT	0.517													T	27959167	C	T	27959167	2	4	666	1	0	0	0	0	0	0	0	1	15281	854	30	2		2	SSH2	17	27959167	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	20258435	27959167	53236043	55	52781											
ACACA	31	broad.mit.edu	37	chr17	35641873	35641873	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caagccagacatgctggaccTataaaaatacagaagccata	18	6	7	10	0	0	2	0	0	0	2	0	3	0	3	3	1	4	1	3	1	8	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:35641873T>C	ENST00000353139.5	-	4	820		c.e4-2		ACACA_ENST00000416895.1_Splice_Site|ACACA_ENST00000335166.5_Splice_Site|ACACA_ENST00000360679.3_Splice_Site|ACACA_ENST00000394406.2_Splice_Site	NM_198834.1|NM_198839.1	NP_942131.1|NP_942136.1	Q13085	ACACA_HUMAN	acetyl-CoA carboxylase alpha						acetyl-CoA metabolic process|energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|triglyceride biosynthetic process	cytosol	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(2)|breast(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(24)|lung(23)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	83		Breast(25;0.00157)|Ovarian(249;0.15)			Biotin(DB00121)	ATGCTGGACCTATAAAAATAC	0.418													C	35641873	T	C	35641873	5	2	666	1	0	0	0	0	0	0	1	0	106	1536	53	3	7026	3	ACACA	17	35641873	Splice_Site	SNP	T	TCGA-QH-A6CV-01A-11D-A31L-08	7682706	35641873	45553337	56	52782											
KRT33A	3883	broad.mit.edu	37	chr17	39506828	39506828	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtagctggccaggcggtcGttcaggaactgcatggtctc	7	9	15	10	2	2	0	1	0	1	0	4	1	2	1	1	6	3	4	1	6	2	2	rs144512034	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:39506828G>A	ENST00000007735.3	-	1	236	c.192C>T	c.(190-192)aaC>aaT	p.N64N		NM_004138.3	NP_004129.2	O76009	KT33A_HUMAN	keratin 33A	64	Coil 1A.|Rod.					intermediate filament	protein binding|structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	21		Breast(137;0.000496)				CCAGGCGGTCGTTCAGGAACT	0.622													A	39506828	G	A	39506828	2	1	666	1	0	0	0	0	0	0	0	1	8527	1136	40	1		1	KRT33A	17	39506828	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	3864955	39506828	41688382	57	52783											
GRIN2C	2905	broad.mit.edu	37	chr17	72843053	72843053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggtactgatcttgaggccGctgaaactgcaggcggaggg	8	8	17	8	2	1	3	0	3	1	0	1	4	1	4	1	5	3	3	1	5	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr17:72843053G>A	ENST00000293190.5	-	10	2154	c.2008C>T	c.(2008-2010)Cgg>Tgg	p.R670W	GRIN2C_ENST00000347612.4_Missense_Mutation_p.R670W	NM_000835.3	NP_000826.2	Q14957	NMDE3_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2C	670					glutamate signaling pathway	cell junction|outer membrane-bounded periplasmic space|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|N-methyl-D-aspartate selective glutamate receptor activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	33	all_lung(278;0.172)|Lung NSC(278;0.207)				Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)	TCTTGAGGCCGCTGAAACTGC	0.627													A	72843053	G	A	72843053	3	1	666	1	0	0	0	0	1	0	0	0	6836	1086	38	1	1709	1	GRIN2C	17	72843053	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	33336225	72843053	8352157	58	52784											
SERPINB12	89777	broad.mit.edu	37	chr18	61234092	61234092	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtggaggtggatgaaaacGgtacccaggcagctgcagcc	10	7	15	9	1	0	1	0	1	0	0	0	3	0	3	2	5	5	4	2	5	3	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:61234092G>A	ENST00000382768.1	+	7	1126	c.1126G>A	c.(1126-1128)Ggt>Agt	p.G376S	SERPINB12_ENST00000269491.1_Missense_Mutation_p.G356S			Q96P63	SPB12_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 12	356					negative regulation of protein catabolic process|regulation of proteolysis	cytoplasm	enzyme binding|serine-type endopeptidase inhibitor activity			kidney(1)|large_intestine(5)|lung(19)|skin(1)	26						GGATGAAAACGGTACCCAGGC	0.458													A	61234092	G	A	61234092	3	1	666	1	0	0	0	0	1	0	0	0	14192	1116	39	1	1092	1	SERPINB12	18	61234092	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		61234092	16843156	59	52785											
RTTN	25914	broad.mit.edu	37	chr18	67817253	67817253	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagattcaataaacttgttcCaggtcaatgctgtcatcatc	12	13	7	9	0	4	1	4	0	0	1	6	2	5	1	1	1	2	2	1	1	4	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr18:67817253C>T	ENST00000255674.6	-	16	2412	c.2126G>A	c.(2125-2127)tGg>tAg	p.W709*	RTTN_ENST00000454359.1_Nonsense_Mutation_p.W709*|RTTN_ENST00000437017.1_Nonsense_Mutation_p.W709*	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	709							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				AAACTTGTTCCAGGTCAATGC	0.428													T	67817253	C	T	67817253	4	4	666	1	0	0	0	0	0	1	0	0	13828	595	21	2	4690	2	RTTN	18	67817253	Nonsense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6583161	67817253	10259995	60	52786											
ZNF358	140467	broad.mit.edu	37	chr19	7585112	7585112	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccccactgcggcaaagccttCgggcagagctccaacttgca	9	6	10	16	2	0	1	0	0	0	1	2	1	1	1	4	2	5	4	4	2	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:7585112C>T	ENST00000597229.1	+	2	1154	c.984C>T	c.(982-984)ttC>ttT	p.F328F	ZNF358_ENST00000394341.2_Silent_p.F328F|CTD-2207O23.11_ENST00000602083.1_RNA	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	328					embryonic forelimb morphogenesis|neural tube development|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						GCAAAGCCTTCGGGCAGAGCT	0.701													T	7585112	C	T	7585112	2	4	666	1	0	0	0	0	0	0	0	1	17968	883	31	1		1	ZNF358	19	7585112	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		7585112	51543871	61	52787											
OR2Z1	284383	broad.mit.edu	37	chr19	8842045	8842045	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctcatcgccacctcctacGgccacgtgttgcaggctgtt	5	10	9	17	3	1	0	1	0	0	0	3	0	2	0	5	2	2	4	5	2	1	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:8842045G>A	ENST00000324060.2	+	1	730	c.655G>A	c.(655-657)Ggc>Agc	p.G219S		NM_001004699.1	NP_001004699.1	Q8NG97	OR2Z1_HUMAN	olfactory receptor, family 2, subfamily Z, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						CACCTCCTACGGCCACGTGTT	0.582													A	8842045	G	A	8842045	3	1	666	1	0	0	0	0	1	0	0	0	11112	1116	39	1	657	1	OR2Z1	19	8842045	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1256933	8842045	50286938	62	52788											
SMARCA4	6597	broad.mit.edu	37	chr19	11143984	11143984	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacctgcaagcgcaggacCgagcccaccgcatcgggcag	10	2	14	15	4	0	0	0	0	0	0	1	3	0	2	4	3	3	4	4	3	1	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:11143984C>G	ENST00000358026.2	+	26	3849	c.3565C>G	c.(3565-3567)Cga>Gga	p.R1189G	SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1189G|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1189G|SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1189G|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1189G|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1189G	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1189	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				AGCGCAGGACCGAGCCCACCG	0.612			"F, N, Mis"		NSCLC								G	11143984	C	G	11143984	3	3	666	1	0	0	0	0	1	0	0	0	14864	644	23	4	3663	4	SMARCA4	19	11143984	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	2301939	11143984	47984999	63	52789											
MAST1	22983	broad.mit.edu	37	chr19	12977470	12977470	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatacccgctccccagcccGctcagacaggtatcaccacg	9	5	7	20	3	2	1	2	0	0	1	3	1	3	1	6	1	2	3	6	1	2	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:12977470G>T	ENST00000251472.4	+	18	2072	c.2033G>T	c.(2032-2034)cGc>cTc	p.R678L		NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	678	AGC-kinase C-terminal.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCCCCAGCCCGCTCAGACAGG	0.592													T	12977470	G	T	12977470	3	4	666	1	0	0	0	0	1	0	0	0	9399	1087	38	4	2103	4	MAST1	19	12977470	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1833486	12977470	46151513	64	52790											
CILP2	148113	broad.mit.edu	37	chr19	19654989	19654989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttttgatcctcgaggtgcCggcgtgtaccacgaggtcaa	7	10	12	12	4	1	1	1	1	0	0	3	3	2	1	4	3	2	1	4	3	2	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:19654989C>T	ENST00000586018.1	+	8	1755	c.1653C>T	c.(1651-1653)gcC>gcT	p.A551A	CILP2_ENST00000291495.5_Silent_p.A545A			Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	545						proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						CTCGAGGTGCCGGCGTGTACC	0.612													T	19654989	C	T	19654989	2	4	666	1	0	0	0	0	0	0	0	1	3460	639	23	1		1	CILP2	19	19654989	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	6677519	19654989	39473994	65	52791											
ZNF208	7757	broad.mit.edu	37	chr19	22171640	22171640	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatttctatataaattctgCtgtgcagtgtccaggcattg	10	15	8	8	0	2	0	0	0	2	0	3	0	3	0	1	1	2	3	1	1	4	6			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:22171640C>T	ENST00000397126.4	-	2	223	c.75G>A	c.(73-75)caG>caA	p.Q25Q	ZNF208_ENST00000599916.1_Silent_p.Q25Q|ZNF208_ENST00000597040.1_5'UTR|ZNF208_ENST00000601773.1_Silent_p.Q25Q	NM_007153.3	NP_009084.2			zinc finger protein 208											breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|liver(1)|lung(71)|ovary(6)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	113		all_lung(12;0.0961)|Lung NSC(12;0.103)				ATAAATTCTGCTGTGCAGTGT	0.398													T	22171640	C	T	22171640	2	4	666	1	0	0	0	0	0	0	0	1	17867	796	28	2		2	ZNF208	19	22171640	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	2516651	22171640	36957343	66	52792											
LIPE	3991	broad.mit.edu	37	chr19	42931121	42931121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgttgtgcaggggtctcctGctgggtgaggggtctttggt	3	14	18	6	0	2	1	0	1	2	0	3	1	2	1	1	6	2	3	1	6	0	2			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:42931121G>C	ENST00000244289.4	-	1	457	c.181C>G	c.(181-183)Cag>Gag	p.Q61E	LIPE-AS1_ENST00000457234.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000594624.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	61					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				GGGGTCTCCTGCTGGGTGAGG	0.527													C	42931121	G	C	42931121	3	2	666	1	0	0	0	0	1	0	0	0	8882	1328	46	4	3089	4	LIPE	19	42931121	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	20759481	42931121	16197862	67	52793											
GLTSCR1	29998	broad.mit.edu	37	chr19	48197800	48197800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccagcccctacgccatcCgacttccagctccagttccc	6	9	6	20	2	0	0	0	0	0	0	4	1	4	0	8	0	4	2	8	0	1	4			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:48197800C>T	ENST00000396720.3	+	8	2906	c.2712C>T	c.(2710-2712)tcC>tcT	p.S904S	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	904							protein binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		CTACGCCATCCGACTTCCAGC	0.701													T	48197800	C	T	48197800	2	4	666	1	0	0	0	0	0	0	0	1	6530	639	23	1		1	GLTSCR1	19	48197800	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	5266679	48197800	10931183	68	52794											
PPFIA3	8541	broad.mit.edu	37	chr19	49636260	49636260	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctttgctacctccgcaggcGctggcgcagcgggaagatat	7	8	13	13	4	0	1	0	0	0	1	1	2	1	2	3	3	3	4	3	3	3	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:49636260G>A	ENST00000334186.4	+	8	1231	c.882G>A	c.(880-882)gcG>gcA	p.A294A	PPFIA3_ENST00000602351.1_Silent_p.A294A	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	294						cell surface|cytoplasm	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CTCCGCAGGCGCTGGCGCAGC	0.647													A	49636260	G	A	49636260	2	1	666	1	0	0	0	0	0	0	0	1	12388	1074	38	1		1	PPFIA3	19	49636260	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1438460	49636260	9492723	69	52795											
SIGLEC11	114132	broad.mit.edu	37	chr19	50455562	50455562	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgatgcttacctgaagaCgacaaggcaggaacagaaag	15	5	11	10	2	0	3	0	1	0	2	1	6	1	4	2	2	3	2	2	2	5	1	rs140702198	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:50455562C>T	ENST00000447370.2	-	9	1831	c.1741G>A	c.(1741-1743)Gtc>Atc	p.V581I	CTC-326K19.6_ENST00000451973.1_Intron|SIGLEC11_ENST00000426971.2_Missense_Mutation_p.V485I	NM_052884.2	NP_443116.2	Q96RL6	SIG11_HUMAN	sialic acid binding Ig-like lectin 11	581					cell adhesion	integral to membrane	sugar binding	p.V569I(1)|p.V581I(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(6)|pancreas(1)|prostate(1)|skin(1)	32		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00107)|OV - Ovarian serous cystadenocarcinoma(262;0.00517)		TACCTGAAGACGACAAGGCAG	0.622													T	50455562	C	T	50455562	3	4	666	1	0	0	0	0	1	0	0	0	14401	536	19	1	367	1	SIGLEC11	19	50455562	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	819302	50455562	8673421	70	52796											
SIGLEC6	946	broad.mit.edu	37	chr19	52033760	52033760	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtggaaagaggtggccGcctcaacatccctgaggagg	9	6	17	9	1	1	2	1	1	0	1	2	4	2	4	3	7	1	0	3	7	2	0	rs148934624	by1000genomes	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr19:52033760G>A	ENST00000359982.4	-	4	863	c.718C>T	c.(718-720)Cgg>Tgg	p.R240W	SIGLEC6_ENST00000343300.4_Intron|SIGLEC6_ENST00000425629.3_Intron|SIGLEC6_ENST00000346477.3_Intron|SIGLEC6_ENST00000436458.1_Intron|SIGLEC6_ENST00000391797.3_Intron	NM_001177548.1	NP_001171019.1	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	236	Ig-like C2-type 2.				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus				endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		AGAGGTGGCCGCCTCAACATC	0.582													A	52033760	G	A	52033760	3	1	666	1	0	0	0	0	1	0	0	0	14406	1086	38	1	696	1	SIGLEC6	19	52033760	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	1578198	52033760	7095223	71	52797											
DLGAP4	22839	broad.mit.edu	37	chr20	35060649	35060649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaagggtggcatggaggacGgcaagggccggagggccaaa	12	2	20	7	2	0	1	0	0	0	1	0	4	0	4	2	8	0	2	2	8	3	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:35060649G>A	ENST00000373913.3	+	3	1009	c.529G>A	c.(529-531)Ggc>Agc	p.G177S	DLGAP4_ENST00000339266.5_Missense_Mutation_p.G177S|DLGAP4_ENST00000373907.2_Missense_Mutation_p.G177S|DLGAP4_ENST00000401952.2_Missense_Mutation_p.G177S			Q9Y2H0	DLGP4_HUMAN	discs, large (Drosophila) homolog-associated protein 4	177					cell-cell signaling	membrane	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(20)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATGGAGGACGGCAAGGGCCG	0.642													A	35060649	G	A	35060649	3	1	666	1	0	0	0	0	1	0	0	0	4601	1116	39	1	531	1	DLGAP4	20	35060649	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		35060649	27964871	72	52798											
KCNG1	3755	broad.mit.edu	37	chr20	49626567	49626567	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgtcgtagtcatcgcacacGttgaggatgtcgtcgaagtt	9	11	12	9	6	1	1	1	1	0	0	5	3	1	2	0	1	0	4	0	1	2	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr20:49626567G>A	ENST00000371571.4	-	2	594	c.309C>T	c.(307-309)aaC>aaT	p.N103N	KCNG1_ENST00000396017.3_Silent_p.N103N	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	103						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						CATCGCACACGTTGAGGATGT	0.637													A	49626567	G	A	49626567	2	1	666	1	0	0	0	0	0	0	0	1	8085	1136	40	1		1	KCNG1	20	49626567	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	14565918	49626567	13398953	73	52799											
UBASH3A	53347	broad.mit.edu	37	chr21	43838610	43838610	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccacgcagcaggacgaagCcagcgagggctgggtgattg	9	4	16	12	3	0	1	0	1	0	0	0	4	0	2	3	3	3	3	3	3	1	1			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr21:43838610C>A	ENST00000319294.6	+	7	969	c.938C>A	c.(937-939)gCc>gAc	p.A313D	UBASH3A_ENST00000291535.6_Missense_Mutation_p.A275D|UBASH3A_ENST00000398367.1_Missense_Mutation_p.A275D	NM_018961.3	NP_061834.1	P57075	UBS3A_HUMAN	ubiquitin associated and SH3 domain containing A	313	SH3.					cytosol|nucleus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(9)|lung(12)|ovary(3)	28						CAGGACGAAGCCAGCGAGGGC	0.597													A	43838610	C	A	43838610	3	1	666	1	0	0	0	0	1	0	0	0	16941	739	26	4	964	4	UBASH3A	21	43838610	Missense_Mutation	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08		43838610	4291285	74	52800											
SLC5A1	6523	broad.mit.edu	37	chr22	32479071	32479071	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcttagggggcctggcGgcggtgatttacacggacac	6	8	16	11	3	0	1	0	1	0	0	0	2	0	2	2	6	2	1	2	6	2	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:32479071G>A	ENST00000266088.4	+	7	844	c.594G>A	c.(592-594)gcG>gcA	p.A198A	SLC5A1_ENST00000543737.1_Silent_p.A71A	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	198					carbohydrate metabolic process	integral to plasma membrane	glucose:sodium symporter activity|protein binding	p.A198A(1)		NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(18)|ovary(1)|prostate(2)|skin(4)|urinary_tract(1)	37						GGGGCCTGGCGGCGGTGATTT	0.572													A	32479071	G	A	32479071	2	1	666	1	0	0	0	0	0	0	0	1	14755	1103	39	1		1	SLC5A1	22	32479071	Silent	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08		32479071	18825495	75	52801											
NCF4	4689	broad.mit.edu	37	chr22	37266498	37266498	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtgctgatggatgaggaCgtccggatcttcttttacca	7	13	13	8	2	2	2	0	2	2	0	3	5	3	5	2	4	2	1	2	4	1	3	rs144105468		TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:37266498C>T	ENST00000397147.4	+	5	568	c.384C>T	c.(382-384)gaC>gaT	p.D128D	NCF4_ENST00000248899.6_Silent_p.D128D	NM_013416.3	NP_038202.2	Q15080	NCF4_HUMAN	neutrophil cytosolic factor 4, 40kDa	128	PX.				cell communication|immune response|oxidation-reduction process	cytosol|NADPH oxidase complex	phosphatidylinositol binding|protein dimerization activity			cervix(1)|endometrium(4)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16						TGGATGAGGACGTCCGGATCT	0.622													T	37266498	C	T	37266498	2	4	666	1	0	0	0	0	0	0	0	1	10294	535	19	1		1	NCF4	22	37266498	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	4787427	37266498	14038068	76	52802											
TTLL8	164714	broad.mit.edu	37	chr22	50480124	50480124	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacggcatctgctgaCgtgtcgatgtcctcatgctc	5	12	9	15	3	2	1	1	1	1	0	7	2	5	1	3	1	2	3	3	1	0	0			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chr22:50480124C>T	ENST00000266182.6	-	7	755	c.756G>A	c.(754-756)acG>acA	p.T252T	TTLL8_ENST00000440475.1_Silent_p.T252T					tubulin tyrosine ligase-like family, member 8											NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(6)|ovary(4)	12		all_cancers(38;3.44e-07)|all_epithelial(38;2.44e-06)|all_lung(38;0.00141)|Breast(42;0.00519)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		READ - Rectum adenocarcinoma(2;0.000882)|Colorectal(2;0.00311)|BRCA - Breast invasive adenocarcinoma(115;0.226)		CATCTGCTGACGTGTCGATGT	0.632													T	50480124	C	T	50480124	2	4	666	1	0	0	0	0	0	0	0	1	16835	523	19	1		1	TTLL8	22	50480124	Silent	SNP	C	TCGA-QH-A6CV-01A-11D-A31L-08	13213626	50480124	824442	77	52803											
CPXCR1	53336	broad.mit.edu	37	chrX	88008525	88008525	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagagtctccatctgctgAtcccaatatgatctatcagg	11	12	7	11	0	4	3	1	2	3	1	6	3	5	3	2	1	1	1	2	1	4	3			TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:88008525A>C	ENST00000276127.4	+	3	369	c.110A>C	c.(109-111)gAt>gCt	p.D37A	CPXCR1_ENST00000373111.1_Missense_Mutation_p.D37A	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	37						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						CCATCTGCTGATCCCAATATG	0.443													C	88008525	A	C	88008525	3	2	666	1	0	0	0	0	1	0	0	0	3867	333	12	5	112	5	CPXCR1	23	88008525	Missense_Mutation	SNP	A	TCGA-QH-A6CV-01A-11D-A31L-08		88008525	67262035	78	52804											
USP26	83844	broad.mit.edu	37	chrX	132162098	132162098	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgaatattatcacttagccGaaaagtgctatattttccac	13	15	5	8	1	1	1	1	1	0	0	2	2	2	1	2	0	2	1	2	0	8	8	rs146792106	byFrequency	TCGA-QH-A6CV-01A-11D-A31L-08	TCGA-QH-A6CV-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bea94fbb-f011-4935-8e9d-b8452ce318a9	39cfb03f-5c7d-495e-99ec-a997d1bfd9a6	g.chrX:132162098G>A	ENST00000511190.1	-	6	620	c.151C>T	c.(151-153)Cgg>Tgg	p.R51W	USP26_ENST00000406273.1_Missense_Mutation_p.R51W|USP26_ENST00000370832.1_Missense_Mutation_p.R51W	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	51					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					TCACTTAGCCGAAAAGTGCTA	0.318													A	132162098	G	A	132162098	3	1	666	1	0	0	0	0	1	0	0	0	17159	1057	37	1	2593	1	USP26	23	132162098	Missense_Mutation	SNP	G	TCGA-QH-A6CV-01A-11D-A31L-08	44153573	132162098	23108462	79	52805											
C1orf168	199920	broad.mit.edu	37	chr1	57219575	57219575	+	Frame_Shift_Del	DEL	T	T	-																															ggtttcaattcacatggttgTttttccttcatttttttatc																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:57219575delT	ENST00000343433.6	-	8	1244	c.1164delA	c.(1162-1164)aaafs	p.K388fs	C1orf168_ENST00000484327.1_Intron	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	388										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						CACATGGTTGTTTTTCCTTCA	0.333													-	57219575	T	-	57219575	7	5	667	1	0	1	0	1	0	0	0	0	2032	1722	60	0	1074	0	C1orf168	1	57219575	Frame_Shift_Del	DEL	T	TCGA-QH-A6CW-01A-11D-A32B-08		57219575	192031046	1	52806											
LPAR3	23566	broad.mit.edu	37	chr1	85331619	85331619	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtagtagaaggggaaaTgaaattttctgtttttgatc	13	14	11	3	0	1	3	0	2	1	1	2	4	1	4	0	3	0	3	0	3	5	6			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:85331619T>G	ENST00000440886.1	-	1	223	c.185A>C	c.(184-186)cAt>cCt	p.H62P	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.H62P			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	62					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						GAAGGGGAAATGAAATTTTCT	0.393													G	85331619	T	G	85331619	3	3	667	1	0	0	0	0	1	0	0	0	8976	1464	51	5	884	5	LPAR3	1	85331619	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	28112044	85331619	163919002	2	52807											
GNAI3	2773	broad.mit.edu	37	chr1	110128908	110128908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttttgagggagtgacagcaAttatcttctgtgtggccctc	7	14	12	8	0	2	2	0	2	2	0	3	3	2	3	1	2	1	2	1	2	2	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:110128908A>G	ENST00000369851.4	+	6	771	c.661A>G	c.(661-663)Att>Gtt	p.I221V		NM_006496.3	NP_006487.1	P08754	GNAI3_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 3	221					cell cycle|cell division|inhibition of adenylate cyclase activity by G-protein signaling pathway|platelet activation|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|metabotropic serotonin receptor binding|signal transducer activity			NS(1)|endometrium(2)|kidney(1)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	12		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.046)|Colorectal(144;0.119)|Epithelial(280;0.139)|all cancers(265;0.147)|LUSC - Lung squamous cell carcinoma(189;0.237)		AGTGACAGCAATTATCTTCTG	0.458													G	110128908	A	G	110128908	3	3	667	1	0	0	0	0	1	0	0	0	6562	101	4	3	683	3	GNAI3	1	110128908	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	24797289	110128908	139121713	3	52808											
DENND2C	163259	broad.mit.edu	37	chr1	115137092	115137092	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttggctcacttgtctcatAccttgtgaaaaattctgctc	8	15	6	12	0	3	1	2	1	2	0	5	1	3	1	2	1	2	2	2	1	3	5			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:115137092A>T	ENST00000393274.1	-	18	3057		c.e18+1		DENND2C_ENST00000481894.1_Splice_Site|DENND2C_ENST00000393276.3_Splice_Site|DENND2C_ENST00000393277.1_Splice_Site	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C											NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTTGTCTCATACCTTGTGAAA	0.383													T	115137092	A	T	115137092	5	4	667	1	0	0	0	0	0	0	1	0	4469	405	14	5	369	5	DENND2C	1	115137092	Splice_Site	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	5008184	115137092	134113529	4	52809											
IGSF3	3321	broad.mit.edu	37	chr1	117131325	117131325	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcggccttacctggctgttTcacagtgacttctgtgcgcc	4	13	11	13	2	2	1	1	1	1	0	2	1	2	1	3	2	3	2	3	2	1	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr1:117131325T>C	ENST00000369486.3	-	8	3196	c.2431A>G	c.(2431-2433)Aaa>Gaa	p.K811E	IGSF3_ENST00000318837.6_Missense_Mutation_p.K831E|IGSF3_ENST00000369483.1_Missense_Mutation_p.K831E	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	811						integral to membrane				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		CCTGGCTGTTTCACAGTGACT	0.632													C	117131325	T	C	117131325	3	2	667	1	0	0	0	0	1	0	0	0	7659	1792	62	3	1169	3	IGSF3	1	117131325	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	1994233	117131325	132119296	5	52810											
SGOL2	151246	broad.mit.edu	37	chr2	201437735	201437735	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatattggagttgaaaaagtAtgttactgataggaaatctg	15	14	10	2	0	1	2	0	2	1	0	1	4	1	4	0	2	1	3	0	2	8	7			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr2:201437735A>G	ENST00000357799.4	+	7	2764	c.2666A>G	c.(2665-2667)tAt>tGt	p.Y889C		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	889					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TTGAAAAAGTATGTTACTGAT	0.303													G	201437735	A	G	201437735	3	3	667	1	0	0	0	0	1	0	0	0	14310	449	16	3	2688	3	SGOL2	2	201437735	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		201437735	41761638	6	52811											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	667	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	7675377	209113112	34086261	7	52812											
GNAI2	2771	broad.mit.edu	37	chr3	50294410	50294412	+	In_Frame_Del	DEL	CAA	CAA	-																															aagctattcgatagcatctgCaacaacaagtggttcacaga																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:50294410_50294412delCAA	ENST00000313601.6	+	7	1149_1151	c.765_767delCAA	c.(763-768)tgcaac>tgc	p.N257del	GNAI2_ENST00000451956.1_In_Frame_Del_p.N220del|GNAI2_ENST00000422163.1_In_Frame_Del_p.N241del|GNAI2_ENST00000266027.5_In_Frame_Del_p.N241del|GNAI2_ENST00000536647.1_In_Frame_Del_p.N176del|GNAI2_ENST00000491100.1_3'UTR|GNAI2_ENST00000440628.1_In_Frame_Del_p.N205del	NM_002070.2	NP_002061.1	P04899	GNAI2_HUMAN	guanine nucleotide binding protein (G protein), alpha inhibiting activity polypeptide 2	257					adenosine receptor signaling pathway|cell cycle|cell division|gamma-aminobutyric acid signaling pathway|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of calcium ion transport via voltage-gated calcium channel activity|platelet activation|response to nutrient|synaptic transmission	centrosome|heterotrimeric G-protein complex|midbody	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|liver(2)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	16				BRCA - Breast invasive adenocarcinoma(193;0.000288)|KIRC - Kidney renal clear cell carcinoma(197;0.00571)|Kidney(197;0.00651)		ATAGCATCTGCAACAACAAGTGG	0.532											OREG0015582	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	50294412	CAA	-	50294410	7	5	667	1	0	1	0	1	0	0	0	0	6561	718	25	0	802	0	GNAI2	3	50294410	In_Frame_Del	DEL	CAA	TCGA-QH-A6CW-01A-11D-A32B-08		50294410	147728020	8	52813											
CRYBG3	131544	broad.mit.edu	37	chr3	97596432	97596432	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cccttctccagtcagtgtcaGaacgtttaaagatgaatttt	11	14	7	9	1	3	3	2	1	1	2	4	3	3	3	2	0	1	1	2	0	4	5			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:97596432G>C	ENST00000182096.4	+	1	614	c.550G>C	c.(550-552)Gaa>Caa	p.E184Q		NM_153605.3	NP_705833.3			beta-gamma crystallin domain containing 3											breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(10)|stomach(1)|upper_aerodigestive_tract(2)	32						GTCAGTGTCAGAACGTTTAAA	0.458													C	97596432	G	C	97596432	3	2	667	1	0	0	0	0	1	0	0	0	3944	943	33	4	552	4	CRYBG3	3	97596432	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	47302022	97596432	100425998	9	52814											
BBX	56987	broad.mit.edu	37	chr3	107491781	107491781	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagaagatcacaaatgtagtCattttcctgatttttcttat	13	17	5	6	0	3	3	2	1	1	2	4	3	4	3	1	0	0	1	1	0	5	6			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:107491781C>G	ENST00000415149.2	+	11	1540	c.1213C>G	c.(1213-1215)Cat>Gat	p.H405D	BBX_ENST00000406780.1_Missense_Mutation_p.H405D|BBX_ENST00000325805.8_Missense_Mutation_p.H405D|BBX_ENST00000402543.1_Missense_Mutation_p.H405D|BBX_ENST00000416476.2_Intron	NM_001142568.1|NM_020235.5	NP_001136040.1|NP_064620.2	Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			CAAATGTAGTCATTTTCCTGA	0.328													G	107491781	C	G	107491781	3	3	667	1	0	0	0	0	1	0	0	0	1348	826	29	4	1243	4	BBX	3	107491781	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	9895349	107491781	90530649	10	52815											
HGD	3081	broad.mit.edu	37	chr3	120352005	120352005	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catacttaccatggtgccatCggcaatcctctcaggtgcca	9	10	8	14	1	1	0	1	0	1	0	4	0	2	0	4	3	4	1	4	3	3	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:120352005C>T	ENST00000283871.5	-	13	1636	c.1177G>A	c.(1177-1179)Gat>Aat	p.D393N		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	393					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		ATGGTGCCATCGGCAATCCTC	0.547													T	120352005	C	T	120352005	3	4	667	1	0	0	0	0	1	0	0	0	7139	884	31	1	168	1	HGD	3	120352005	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	12860224	120352005	77670425	11	52816											
COL6A5	256076	broad.mit.edu	37	chr3	130188154	130188154	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtctctgagagccaagtgtCaaggctactccatatttgtg	9	13	10	9	0	2	1	1	1	1	1	4	2	3	1	2	1	2	1	2	1	4	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:130188154C>T	ENST00000265379.6	+	38	7800	c.7306C>T	c.(7306-7308)Caa>Taa	p.Q2436*	COL6A5_ENST00000432398.2_Nonsense_Mutation_p.Q2436*			A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2436	Nonhelical region.|VWFA 10.				axon guidance|cell adhesion	collagen				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						AGCCAAGTGTCAAGGCTACTC	0.408													T	130188154	C	T	130188154	4	4	667	1	0	0	0	0	0	1	0	0	3733	827	29	2	7452	2	COL6A5	3	130188154	Nonsense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	9836149	130188154	67834276	12	52817											
MECOM	2122	broad.mit.edu	37	chr3	168812874	168812874	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tattacgtaccggacatgttCccattctcatgtttctttag	8	17	6	10	2	2	0	1	0	2	0	4	1	3	1	2	1	2	3	2	1	4	8			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr3:168812874C>T	ENST00000464456.1	-	11	3618	c.2418G>A	c.(2416-2418)ggG>ggA	p.G806G	MECOM_ENST00000433243.2_Silent_p.G816G|MECOM_ENST00000468789.1_Silent_p.G815G|MECOM_ENST00000264674.3_Silent_p.G880G|MECOM_ENST00000472280.1_Silent_p.G816G|MECOM_ENST00000460814.1_Silent_p.G806G|MECOM_ENST00000494292.1_Silent_p.G994G|MECOM_ENST00000392736.3_Silent_p.G815G	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						CGGACATGTTCCCATTCTCAT	0.318													T	168812874	C	T	168812874	2	4	667	1	0	0	0	0	0	0	0	1	9497	842	30	2		2	MECOM	3	168812874	Silent	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	38624720	168812874	29209556	13	52818											
PPEF2	5470	broad.mit.edu	37	chr4	76794286	76794286	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagggagcacccaccttgcgGttgtgacagaattcatagcc	10	8	12	11	1	1	2	1	1	0	1	1	4	1	3	3	2	3	2	3	2	2	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:76794286G>C	ENST00000286719.7	-	12	1856	c.1500C>G	c.(1498-1500)aaC>aaG	p.N500K		NM_006239.2	NP_006230.2	O14830	PPE2_HUMAN	protein phosphatase, EF-hand calcium binding domain 2	500	Catalytic.				detection of stimulus involved in sensory perception|negative regulation of MAPKKK cascade|negative regulation of peptidyl-threonine phosphorylation|protein dephosphorylation|visual perception	cytoplasm|photoreceptor inner segment|photoreceptor outer segment	calcium ion binding|Hsp70 protein binding|Hsp90 protein binding|iron ion binding|manganese ion binding|mitogen-activated protein kinase kinase kinase binding|protein serine/threonine phosphatase activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	50			Lung(101;0.0809)|LUSC - Lung squamous cell carcinoma(112;0.0934)			CCACCTTGCGGTTGTGACAGA	0.488													C	76794286	G	C	76794286	3	2	667	1	0	0	0	0	1	0	0	0	12385	1252	44	4	785	4	PPEF2	4	76794286	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		76794286	114359990	14	52819											
DCHS2	54798	broad.mit.edu	37	chr4	155287481	155287481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgatgatctcggtgcctGgctgggtctcatcactgatg	6	13	12	10	1	3	3	2	3	2	0	5	3	3	3	1	3	1	1	1	3	0	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr4:155287481G>A	ENST00000357232.4	-	5	574	c.575C>T	c.(574-576)cCa>cTa	p.P192L	DCHS2_ENST00000339452.1_Missense_Mutation_p.P786L	NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 2.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CTCGGTGCCTGGCTGGGTCTC	0.493													A	155287481	G	A	155287481	3	1	667	1	0	0	0	0	1	0	0	0	4322	1348	47	2	8355	2	DCHS2	4	155287481	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	78493195	155287481	35866795	15	52820											
PRPF4B	8899	broad.mit.edu	37	chr6	4037671	4037671	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcagtagacgtgaaagaTcaaaagatgccagccccatc	14	7	8	12	1	2	4	2	1	0	3	4	4	3	4	4	0	2	1	4	0	4	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:4037671T>G	ENST00000337659.6	+	3	1379	c.1279T>G	c.(1279-1281)Tca>Gca	p.S427A	PRPF4B_ENST00000538861.1_Missense_Mutation_p.S413A	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	427	Arg/Lys-rich (basic).					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity			breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				ACGTGAAAGATCAAAAGATGC	0.413													G	4037671	T	G	4037671	3	3	667	1	0	0	0	0	1	0	0	0	12659	1435	50	5	1289	5	PRPF4B	6	4037671	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		4037671	167077396	16	52821											
SCAND3	114821	broad.mit.edu	37	chr6	28554109	28554109	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaagctccctctccaaaTcttccagcaaagtcaccacc	12	8	3	18	0	4	0	2	0	2	0	7	0	6	0	5	0	2	2	5	0	3	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr6:28554109T>C	ENST00000452236.2	-	1	1003	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SCAND3_ENST00000530247.1_Intron	NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	129	SCAN box.				DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						CCTCTCCAAATCTTCCAGCAA	0.522													C	28554109	T	C	28554109	3	2	667	1	0	0	0	0	1	0	0	0	13968	1435	50	3	3607	3	SCAND3	6	28554109	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	24516438	28554109	142560958	17	52822											
ABCA13	154664	broad.mit.edu	37	chr7	48314805	48314807	+	In_Frame_Del	DEL	TCT	TCT	-																															gcaatgtccatgggctcatgTcttcttccttttatggcaaa																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:48314805_48314807delTCT	ENST00000435803.1	+	17	5566_5568	c.5542_5544delTCT	c.(5542-5544)tctdel	p.S1850del		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1850					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TGGGCTCATGTCTTCTTCCTTTT	0.443													-	48314807	TCT	-	48314805	7	5	667	1	0	1	0	1	0	0	0	0	31	1667	58	0	5437	0	ABCA13	7	48314805	In_Frame_Del	DEL	TCT	TCGA-QH-A6CW-01A-11D-A32B-08		48314805	110823858	18	52823											
MET	4233	broad.mit.edu	37	chr7	116435788	116435788	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtaaacacctttgatataaCtgtttacttgttgcaaggga	12	14	8	7	1	0	1	0	1	0	0	0	2	0	2	1	1	4	4	1	1	6	8			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr7:116435788C>G	ENST00000397752.3	+	20	4078	c.3878C>G	c.(3877-3879)aCt>aGt	p.T1293S	MET_ENST00000539704.1_Missense_Mutation_p.T163S|MET_ENST00000318493.6_Missense_Mutation_p.T1311S	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1293	Interaction with RANBP9.|Protein kinase.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTTGATATAACTGTTTACTTG	0.453			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)		OREG0003446	type=REGULATORY REGION|Gene=MET|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	G	116435788	C	G	116435788	3	3	667	1	0	0	0	0	1	0	0	0	9560	565	20	4	4006	4	MET	7	116435788	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	68120983	116435788	42702875	19	52824											
ARMC1	55156	broad.mit.edu	37	chr8	66516636	66516636	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaaaagtgaagtcaccaaTaaaatgatctggataaaaag	20	7	7	7	0	2	2	1	2	1	0	2	3	2	3	2	1	0	0	2	1	9	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:66516636T>C	ENST00000276569.3	-	7	1086	c.842A>G	c.(841-843)tAt>tGt	p.Y281C	ARMC1_ENST00000458464.2_Missense_Mutation_p.Y179C	NM_018120.4	NP_060590.1	Q9NVT9	ARMC1_HUMAN	armadillo repeat containing 1	281					metal ion transport		metal ion binding			cervix(1)|endometrium(3)|large_intestine(1)|lung(8)|skin(1)	14			Epithelial(68;0.103)|OV - Ovarian serous cystadenocarcinoma(28;0.235)			AAGTCACCAATAAAATGATCT	0.468													C	66516636	T	C	66516636	3	2	667	1	0	0	0	0	1	0	0	0	954	1406	49	3	10	3	ARMC1	8	66516636	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		66516636	79847386	20	52825											
KCNB2	9312	broad.mit.edu	37	chr8	73848182	73848182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttccagatcctggccatcGtgtctatcctgttcattgtg	5	17	8	11	1	2	1	1	0	1	1	6	1	5	1	4	1	0	1	4	1	1	5			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:73848182G>A	ENST00000523207.1	+	3	1180	c.592G>A	c.(592-594)Gtg>Atg	p.V198M		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	198					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.V198M(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CCTGGCCATCGTGTCTATCCT	0.463													A	73848182	G	A	73848182	3	1	667	1	0	0	0	0	1	0	0	0	8071	1145	40	1	598	1	KCNB2	8	73848182	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	7331546	73848182	72515840	21	52826											
VPS28	51160	broad.mit.edu	37	chr8	145649475	145649475	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtgggaggtggctcatgCggtgcatggtctccatcagc	5	9	17	10	2	3	0	2	0	1	0	4	1	3	1	1	6	3	2	1	6	0	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr8:145649475C>T	ENST00000377348.2	-	9	586	c.497G>A	c.(496-498)cGc>cAc	p.R166H	VPS28_ENST00000292510.4_Missense_Mutation_p.R166H|VPS28_ENST00000526054.1_Missense_Mutation_p.R166H|VPS28_ENST00000529182.1_Missense_Mutation_p.R166H	NM_183057.1	NP_898880.1	Q9UK41	VPS28_HUMAN	vacuolar protein sorting 28 homolog (S. cerevisiae)	166	VPS28 C-terminal.				cellular membrane organization|endosome transport|negative regulation of protein ubiquitination|protein transport	cytosol|late endosome membrane|plasma membrane	protein binding			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			GTGGCTCATGCGGTGCATGGT	0.692													T	145649475	C	T	145649475	3	4	667	1	0	0	0	0	1	0	0	0	17301	768	27	1	290	1	VPS28	8	145649475	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	71801293	145649475	714547	22	52827											
HSD17B3	3293	broad.mit.edu	37	chr9	99007648	99007648	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttggaagctgagtacatggaGtagagaggccaaggaaacag	15	6	15	5	0	0	2	0	1	0	1	0	6	0	5	1	4	3	3	1	4	5	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:99007648G>A	ENST00000375263.3	-	8	632	c.585C>T	c.(583-585)taC>taT	p.Y195Y	HSD17B3_ENST00000464104.1_5'UTR|HSD17B3_ENST00000375262.2_Silent_p.Y195Y	NM_000197.1	NP_000188.1	P37058	DHB3_HUMAN	hydroxysteroid (17-beta) dehydrogenase 3	195					androgen biosynthetic process|male genitalia development	endoplasmic reticulum membrane|microsome	binding|testosterone 17-beta-dehydrogenase (NAD+) activity|testosterone 17-beta-dehydrogenase (NADP+) activity			breast(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	13		Acute lymphoblastic leukemia(62;0.0171)|all_hematologic(171;0.214)			NADH(DB00157)	AGTACATGGAGTAGAGAGGCC	0.463													A	99007648	G	A	99007648	2	1	667	1	0	0	0	0	0	0	0	1	7440	1024	36	2		2	HSD17B3	9	99007648	Silent	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		99007648	42205783	23	52828											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713097	138713097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgagggtggctgctggcaGggaagggtctcaagtgcggg	6	7	20	8	2	1	0	1	0	1	0	3	2	2	1	1	6	2	3	1	6	2	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:138713097G>A	ENST00000389532.4	-	11	3474	c.3410C>T	c.(3409-3411)cCt>cTt	p.P1137L	CAMSAP1_ENST00000312405.6_Missense_Mutation_p.P859L|CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Missense_Mutation_p.P1148L	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1137						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GCTGCTGGCAGGGAAGGGTCT	0.637													A	138713097	G	A	138713097	3	1	667	1	0	0	0	0	1	0	0	0	2637	1000	35	2	1426	2	CAMSAP1	9	138713097	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	39705449	138713097	2500334	24	52829											
NOTCH1	4851	broad.mit.edu	37	chr9	139393369	139393370	+	Frame_Shift_Del	DEL	TT	TT	-																															accctgttgttctgcatatcTttgttagccccgttcttcag																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139393369_139393370delTT	ENST00000277541.6	-	33	6236_6237	c.6161_6162delAA	c.(6160-6162)aaafs	p.K2054fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	2054					aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TCTGCATATCTTTGTTAGCCCC	0.614			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139393370	TT	-	139393369	7	5	667	1	0	1	0	1	0	0	0	0	10623	1606	56	0	1513	0	NOTCH1	9	139393369	Frame_Shift_Del	DEL	TT	TCGA-QH-A6CW-01A-11D-A32B-08	680272	139393369	1820062	25	52830											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	667	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-QH-A6CW-01A-11D-A32B-08	19701	139413070	1800361	26	52831											
KBTBD4	55709	broad.mit.edu	37	chr11	47594890	47594890	+	Frame_Shift_Del	DEL	T	T	-																															agatcattctcctcccccccTagtaagtagatgatcccgtt																								rs146935371		TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:47594890delT	ENST00000533290.1	-	3	1938	c.1224delA	c.(1222-1224)ctafs	p.L408fs	KBTBD4_ENST00000395288.2_Frame_Shift_Del_p.L383fs|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000526005.1_Frame_Shift_Del_p.L383fs|PTPMT1_ENST00000527079.2_3'UTR|KBTBD4_ENST00000430070.2_Frame_Shift_Del_p.L399fs			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	383										NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CCTCCCCCCCTAGTAAGTAGA	0.507													-	47594890	T	-	47594890	7	5	667	1	0	1	0	1	0	0	0	0	8053	1509	53	0	411	0	KBTBD4	11	47594890	Frame_Shift_Del	DEL	T	TCGA-QH-A6CW-01A-11D-A32B-08		47594890	87411626	27	52832											
OR8D2	283160	broad.mit.edu	37	chr11	124190082	124190082	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagcccctgaagaatggttTgaagtagccatgtcttttaa	11	13	9	8	0	2	3	1	2	1	1	2	3	2	3	3	1	2	2	3	1	5	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr11:124190082T>G	ENST00000357438.2	-	1	102	c.12A>C	c.(10-12)tcA>tcC	p.S4S		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	4					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AAGAATGGTTTGAAGTAGCCA	0.408													G	124190082	T	G	124190082	2	3	667	1	0	0	0	0	0	0	0	1	11308	1799	63	5		5	OR8D2	11	124190082	Silent	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	76595192	124190082	10816434	28	52833											
NCAPD2	9918	broad.mit.edu	37	chr12	6634761	6634761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttagctctgtgagtttGtgcagaaggatgagttgaaa	10	14	12	5	0	2	4	0	3	2	1	2	5	2	5	0	1	2	4	0	1	3	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:6634761G>A	ENST00000315579.5	+	18	3026	c.2227G>A	c.(2227-2229)Gtg>Atg	p.V743M	NCAPD2_ENST00000542492.1_3'UTR|NCAPD2_ENST00000545962.1_Missense_Mutation_p.V698M	NM_014865.3	NP_055680.3	Q15021	CND1_HUMAN	non-SMC condensin I complex, subunit D2	743					cell division|mitotic chromosome condensation	condensin core heterodimer|cytoplasm	histone binding			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	48						CTGTGAGTTTGTGCAGAAGGA	0.493													A	6634761	G	A	6634761	3	1	667	1	0	0	0	0	1	0	0	0	10281	1377	48	2	2293	2	NCAPD2	12	6634761	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		6634761	127217134	29	52834											
ATN1	1822	broad.mit.edu	37	chr12	7045601	7045603	+	In_Frame_Del	DEL	TCC	TCC	-																															cagcctcctcttccagttctTcctcctcttcctctgcctcc																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr12:7045601_7045603delTCC	ENST00000356654.4	+	5	1408_1410	c.1171_1173delTCC	c.(1171-1173)tccdel	p.S395del	ATN1_ENST00000396684.2_In_Frame_Del_p.S395del	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	395	Poly-Ser.				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						ttccagttcttcctcctcttcct	0.586													-	7045603	TCC	-	7045601	7	5	667	1	0	1	0	1	0	0	0	0	1116	1783	62	0	1185	0	ATN1	12	7045601	In_Frame_Del	DEL	TCC	TCGA-QH-A6CW-01A-11D-A32B-08	410840	7045601	126806294	30	52835											
ATP7B	540	broad.mit.edu	37	chr13	52524503	52524503	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccttgacgatatcgcccCgctgcaccagctccatgggg	7	7	10	17	3	0	1	0	1	0	0	2	2	1	1	6	2	2	3	6	2	1	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr13:52524503C>T	ENST00000242839.4	-	10	2636	c.2480G>A	c.(2479-2481)cGg>cAg	p.R827Q	ATP7B_ENST00000344297.5_Missense_Mutation_p.R665Q|ATP7B_ENST00000482841.1_5'UTR|ATP7B_ENST00000418097.2_Missense_Mutation_p.R827Q|ATP7B_ENST00000417240.2_Missense_Mutation_p.R99Q|ATP7B_ENST00000400366.3_Missense_Mutation_p.R716Q|ATP7B_ENST00000448424.2_Missense_Mutation_p.R749Q|ATP7B_ENST00000400370.3_Intron	NM_000053.3	NP_000044.2	P35670	ATP7B_HUMAN	ATPase, Cu++ transporting, beta polypeptide	827					ATP biosynthetic process|cellular copper ion homeostasis|copper ion import|response to copper ion|sequestering of calcium ion	Golgi membrane|integral to plasma membrane|late endosome|mitochondrion	ATP binding|copper ion binding|copper-exporting ATPase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(23)|ovary(1)|prostate(3)|skin(4)|stomach(2)	55		Breast(56;0.000207)|Lung NSC(96;0.000845)|Prostate(109;0.0235)|Hepatocellular(98;0.065)|all_neural(104;0.19)		GBM - Glioblastoma multiforme(99;5.25e-08)		GATATCGCCCCGCTGCACCAG	0.572									Wilson disease				T	52524503	C	T	52524503	3	4	667	1	0	0	0	0	1	0	0	0	1196	652	23	1	1965	1	ATP7B	13	52524503	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08		52524503	62645375	31	52836											
OR4K17	390436	broad.mit.edu	37	chr14	20585888	20585888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tatgacccttgcttcttttgCcacccctaaggtgattctga	7	15	7	12	0	2	3	0	3	2	0	2	3	2	3	4	1	2	1	4	1	2	7			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:20585888C>T	ENST00000315543.4	+	1	323	c.323C>T	c.(322-324)gCc>gTc	p.A108V		NM_001004715.1	NP_001004715.1	Q8NGC6	OR4KH_HUMAN	olfactory receptor, family 4, subfamily K, member 17	80					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A108V(1)		kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|skin(3)	21	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.77e-06)	GBM - Glioblastoma multiforme(265;0.0144)		GCTTCTTTTGCCACCCCTAAG	0.398													T	20585888	C	T	20585888	3	4	667	1	0	0	0	0	1	0	0	0	11147	739	26	2	325	2	OR4K17	14	20585888	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08		20585888	86763652	32	52837											
MYH7	4625	broad.mit.edu	37	chr14	23894938	23894938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acttgtactggttgtgatcaAtgtccagggagctgagcagc	9	11	13	8	0	1	2	1	2	0	0	2	3	2	3	1	2	4	4	1	2	2	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:23894938A>G	ENST00000355349.3	-	20	2414	c.2252T>C	c.(2251-2253)aTt>aCt	p.I751T		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	751	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GTTGTGATCAATGTCCAGGGA	0.493													G	23894938	A	G	23894938	3	3	667	1	0	0	0	0	1	0	0	0	10115	101	4	3	3639	3	MYH7	14	23894938	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	3309050	23894938	83454602	33	52838											
AHNAK2	113146	broad.mit.edu	37	chr14	105418743	105418743	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaccaaggccttgatggaCttccctggggccgatacccc	7	8	10	16	1	0	1	0	1	0	0	2	3	2	2	7	4	1	0	7	4	2	3			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr14:105418743C>T	ENST00000333244.5	-	7	3164	c.3045G>A	c.(3043-3045)aaG>aaA	p.K1015K	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1015						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCTTGATGGACTTCCCTGGGG	0.592													T	105418743	C	T	105418743	2	4	667	1	0	0	0	0	0	0	0	1	415	564	20	2		2	AHNAK2	14	105418743	Silent	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	81523805	105418743	1930797	34	52839											
CDH16	1014	broad.mit.edu	37	chr16	66946006	66946006	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacactctgcaccaccaccAccacctcatgacttggagct	10	7	5	19	0	2	1	1	1	1	0	2	2	2	2	6	1	2	2	6	1	0	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr16:66946006A>C	ENST00000299752.4	-	13	1779	c.1586T>G	c.(1585-1587)gTg>gGg	p.V529G	CDH16_ENST00000568632.1_Missense_Mutation_p.V432G|CDH16_ENST00000570262.1_Missense_Mutation_p.V449G|CDH16_ENST00000394055.3_Missense_Mutation_p.V529G|CDH16_ENST00000565796.1_Missense_Mutation_p.V529G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	529	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.V529A(1)		endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		CACCACCACCACCACCTCATG	0.642													C	66946006	A	C	66946006	3	2	667	1	0	0	0	0	1	0	0	0	3131	159	6	5	927	5	CDH16	16	66946006	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		66946006	23408747	35	52840											
TP53	7157	broad.mit.edu	37	chr17	7578535	7578535	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccagttggcaaaacatcTtgttgagggcaggggagtac	10	9	15	7	0	1	1	0	1	1	0	1	2	1	2	1	5	2	5	1	5	3	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr17:7578535T>C	ENST00000420246.2	-	5	527	c.395A>G	c.(394-396)aAg>aGg	p.K132R	TP53_ENST00000413465.2_Missense_Mutation_p.K132R|TP53_ENST00000359597.4_Missense_Mutation_p.K132R|TP53_ENST00000269305.4_Missense_Mutation_p.K132R|TP53_ENST00000455263.2_Missense_Mutation_p.K132R|TP53_ENST00000445888.2_Missense_Mutation_p.K132R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	132	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		K -> E (in LFS; germline mutation and in sporadic cancers; somatic mutation).|K -> L (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|K -> M (in sporadic cancers; somatic mutation).|K -> N (in sporadic cancers; somatic mutation).|K -> Q (in sporadic cancers; somatic mutation).|K -> R (in sporadic cancers; somatic mutation).|K -> T (in sporadic cancers; somatic mutation).|K -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|KM -> NL (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.K132R(42)|p.K132M(10)|p.0?(8)|p.K132T(7)|p.Y126_K132delYSPALNK(6)|p.N131del(3)|p.K39R(3)|p.N131fs*27(2)|p.V73fs*9(1)|p.S127fs*36(1)|p.A129_K132delALNK(1)|p.Y126fs*11(1)|p.K132W(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.L130_M133delLNKM(1)|p.K39T(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)		GCAAAACATCTTGTTGAGGGC	0.562		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)			C	7578535	T	C	7578535	3	2	667	1	0	0	0	0	1	0	0	0	16482	1609	56	3	903	3	TP53	17	7578535	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		7578535	73616675	36	52841											
TCEB3B	51224	broad.mit.edu	37	chr18	44560214	44560214	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagaatccgaaagcggatcGtagttggcctgcatccaggc	10	8	12	11	3	1	1	1	0	0	1	4	3	3	2	3	3	2	3	3	3	3	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:44560214G>A	ENST00000332567.4	-	1	1774	c.1422C>T	c.(1420-1422)taC>taT	p.Y474Y	KATNAL2_ENST00000592005.1_Intron|KATNAL2_ENST00000245121.5_Intron|KATNAL2_ENST00000356157.7_Intron	NM_016427.2	NP_057511.2	Q8IYF1	ELOA2_HUMAN	transcription elongation factor B polypeptide 3B (elongin A2)	474					regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter	integral to membrane|nucleus	DNA binding			breast(1)|cervix(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|lung(24)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58						AAAGCGGATCGTAGTTGGCCT	0.607													A	44560214	G	A	44560214	2	1	667	1	0	0	0	0	0	0	0	1	15782	1140	40	1		1	TCEB3B	18	44560214	Silent	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		44560214	33517034	37	52842											
PHLPP1	23239	broad.mit.edu	37	chr18	60645537	60645537	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagtccacgcgcatcctgGgctacaccttcctccatccc	6	9	7	19	2	0	1	0	1	0	0	5	1	5	1	6	1	1	2	6	1	1	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr18:60645537G>A	ENST00000400316.4	+	17	4272	c.2491G>A	c.(2491-2493)Ggc>Agc	p.G831S	PHLPP1_ENST00000262719.5_Missense_Mutation_p.G1343S	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	1343					apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity			endometrium(2)|kidney(2)|lung(13)	17						GCGCATCCTGGGCTACACCTT	0.572													A	60645537	G	A	60645537	3	1	667	1	0	0	0	0	1	0	0	0	11931	1232	43	2	4093	2	PHLPP1	18	60645537	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	16085323	60645537	17431711	38	52843											
SMARCA4	6597	broad.mit.edu	37	chr19	11123693	11123693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcctggccgacgagatGggcctggggaagaccatcca	9	5	15	12	2	0	2	0	0	0	2	2	5	2	3	5	5	0	1	5	5	1	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11123693G>A	ENST00000358026.2	+	16	2627	c.2343G>A	c.(2341-2343)atG>atA	p.M781I	SMARCA4_ENST00000541122.2_Missense_Mutation_p.M781I|SMARCA4_ENST00000444061.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000589677.1_Missense_Mutation_p.M781I|SMARCA4_ENST00000413806.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000344626.4_Missense_Mutation_p.M781I|SMARCA4_ENST00000450717.3_Missense_Mutation_p.M781I|SMARCA4_ENST00000429416.3_Missense_Mutation_p.M781I|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000590574.1_Missense_Mutation_p.M781I	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	781	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCGACGAGATGGGCCTGGGGA	0.577			"F, N, Mis"		NSCLC								A	11123693	G	A	11123693	3	1	667	1	0	0	0	0	1	0	0	0	14864	1348	47	2	2401	2	SMARCA4	19	11123693	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08		11123693	48005290	39	52844											
SMARCA4	6597	broad.mit.edu	37	chr19	11144027	11144027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacgaggtgcgtgtgctccGcctctgcaccgtcaacagcg	7	7	13	14	5	2	0	1	0	1	0	3	2	3	0	3	1	6	2	3	1	2	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:11144027G>A	ENST00000358026.2	+	26	3892	c.3608G>A	c.(3607-3609)cGc>cAc	p.R1203H	SMARCA4_ENST00000541122.2_Missense_Mutation_p.R1203H|SMARCA4_ENST00000444061.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000589677.1_Missense_Mutation_p.R1203H|SMARCA4_ENST00000413806.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000344626.4_Missense_Mutation_p.R1203H|SMARCA4_ENST00000450717.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000429416.3_Missense_Mutation_p.R1203H|SMARCA4_ENST00000590574.1_Missense_Mutation_p.R1203H	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1203	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGTGTGCTCCGCCTCTGCACC	0.627			"F, N, Mis"		NSCLC								A	11144027	G	A	11144027	3	1	667	1	0	0	0	0	1	0	0	0	14864	1087	38	1	3706	1	SMARCA4	19	11144027	Missense_Mutation	SNP	G	TCGA-QH-A6CW-01A-11D-A32B-08	20334	11144027	47984956	40	52845											
SYDE1	85360	broad.mit.edu	37	chr19	15224628	15224630	+	In_Frame_Del	DEL	GAG	GAG	-																															gtgacagcgaggacgaggacGaggaggtcggcgagccgagg																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:15224628_15224630delGAG	ENST00000600252.1	+	5	2675_2677	c.1033_1035delGAG	c.(1033-1035)gagdel	p.E346del	SYDE1_ENST00000342784.2_In_Frame_Del_p.E689del|SYDE1_ENST00000600440.1_In_Frame_Del_p.E622del			Q6ZW31	SYDE1_HUMAN	synapse defective 1, Rho GTPase, homolog 1 (C. elegans)	689					activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity			endometrium(4)|kidney(1)|large_intestine(7)|lung(2)|ovary(1)|pancreas(1)|skin(1)	17						GGACGAGGACGAGGAGGTCGGCG	0.64													-	15224630	GAG	-	15224628	7	5	667	1	0	1	0	1	0	0	0	0	15532	1059	37	0	2092	0	SYDE1	19	15224628	In_Frame_Del	DEL	GAG	TCGA-QH-A6CW-01A-11D-A32B-08	4080601	15224628	43904355	41	52846											
ZNF180	7733	broad.mit.edu	37	chr19	44982041	44982041	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttagcatgtgatacatgTttatgaaaatggtttcttat	11	20	7	3	0	1	2	0	2	1	0	1	2	1	2	0	1	2	3	0	1	6	8			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:44982041T>C	ENST00000221327.4	-	5	938	c.657A>G	c.(655-657)aaA>aaG	p.K219K	ZNF180_ENST00000391956.4_Silent_p.K194K|ZNF180_ENST00000592529.1_Silent_p.K192K|ZNF180_ENST00000586637.1_3'UTR	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	219					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				GTGATACATGTTTATGAAAAT	0.353													C	44982041	T	C	44982041	2	2	667	1	0	0	0	0	0	0	0	1	17849	1722	60	3		3	ZNF180	19	44982041	Silent	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08	29757413	44982041	14146942	42	52847											
PRKD2	25865	broad.mit.edu	37	chr19	47181709	47181709	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaaggcggcgttctggAtctggtcattgatgtcctca	8	12	12	9	2	4	2	2	2	2	0	5	3	5	3	1	4	0	1	1	4	1	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:47181709A>G	ENST00000433867.1	-	17	2759	c.2282T>C	c.(2281-2283)aTc>aCc	p.I761T	PRKD2_ENST00000601806.1_Missense_Mutation_p.I604T|PRKD2_ENST00000291281.4_Missense_Mutation_p.I761T|PRKD2_ENST00000595515.1_Missense_Mutation_p.I761T|PRKD2_ENST00000600194.1_Missense_Mutation_p.I604T	NM_001079880.1|NM_001079881.1|NM_016457.4	NP_001073349|NP_001073350|NP_057541	Q9BZL6	KPCD2_HUMAN	protein kinase D2	761	Protein kinase.				cell death|intracellular signal transduction|positive regulation of transcription from RNA polymerase II promoter|protein autophosphorylation|T cell receptor signaling pathway	cytoplasm|membrane|nucleus	ATP binding|metal ion binding|protein kinase C activity			central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	41		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000189)|all cancers(93;0.000545)|Epithelial(262;0.0219)|GBM - Glioblastoma multiforme(486;0.0353)		GGCGTTCTGGATCTGGTCATT	0.622													G	47181709	A	G	47181709	3	3	667	1	0	0	0	0	1	0	0	0	12605	333	12	3	366	3	PRKD2	19	47181709	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	2199668	47181709	11947274	43	52848											
SHANK1	50944	broad.mit.edu	37	chr19	51169573	51169573	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgccgaggagccccCaaactgctgaagcttggagc	9	5	13	14	1	0	1	0	1	0	0	0	4	0	3	4	2	7	3	4	2	2	1			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr19:51169573C>T	ENST00000293441.1	-	22	5662	c.5644G>A	c.(5644-5646)Ggg>Agg	p.G1882R	SHANK1_ENST00000391813.1_Missense_Mutation_p.G1269R|SHANK1_ENST00000359082.3_Missense_Mutation_p.G1873R|SHANK1_ENST00000391814.1_Missense_Mutation_p.G1890R|SYT3_ENST00000544769.1_Intron	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1882					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		GAGGAGCCCCCAAACTGCTGA	0.672													T	51169573	C	T	51169573	3	4	667	1	0	0	0	0	1	0	0	0	14358	594	21	2	849	2	SHANK1	19	51169573	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	3987864	51169573	7959410	44	52849											
YWHAB	7529	broad.mit.edu	37	chr20	43534679	43534679	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgctgaattggatacgctgaAtgaagagtcttataaagaca	15	11	10	5	1	1	5	0	3	1	2	1	6	1	6	0	1	2	2	0	1	7	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:43534679A>G	ENST00000372839.3	+	6	900	c.626A>G	c.(625-627)aAt>aGt	p.N209S	YWHAB_ENST00000353703.4_Missense_Mutation_p.N209S|YWHAB_ENST00000479421.1_3'UTR	NM_003404.3	NP_003395.1	P31946	1433B_HUMAN	tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide	209					activation of MAPKK activity|activation of pro-apoptotic gene products|axon guidance|cytoplasmic sequestering of protein|epidermal growth factor receptor signaling pathway|induction of apoptosis by intracellular signals|insulin receptor signaling pathway|mRNA metabolic process|negative regulation of protein dephosphorylation|nerve growth factor receptor signaling pathway|Ras protein signal transduction	centrosome|cytosol|melanosome|perinuclear region of cytoplasm	histone deacetylase binding|phosphoserine binding|protein domain specific binding			breast(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(1)	12		Myeloproliferative disorder(115;0.0122)				GATACGCTGAATGAAGAGTCT	0.388													G	43534679	A	G	43534679	3	3	667	1	0	0	0	0	1	0	0	0	17603	101	4	3	640	3	YWHAB	20	43534679	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		43534679	19490841	45	52850											
ZNF831	128611	broad.mit.edu	37	chr20	57766658	57766658	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagcacaggcggacgcagaCgcacctcaacaactcccggc	12	2	10	17	4	1	1	1	0	0	1	2	2	2	2	2	3	3	3	2	3	3	0			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr20:57766658C>T	ENST00000371030.2	+	1	584	c.584C>T	c.(583-585)aCg>aTg	p.T195M		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	195						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGGACGCAGACGCACCTCAAC	0.672													T	57766658	C	T	57766658	3	4	667	1	0	0	0	0	1	0	0	0	18284	536	19	1	586	1	ZNF831	20	57766658	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	14231979	57766658	5258862	46	52851											
SBF1	6305	broad.mit.edu	37	chr22	50900706	50900706	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctcccgaagtaggcggctcTtgctgctgtccaggggcagg	5	8	16	12	2	1	0	0	0	1	0	3	1	3	0	2	5	2	6	2	5	2	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chr22:50900706T>C	ENST00000380817.3	-	19	2507	c.2324A>G	c.(2323-2325)aAg>aGg	p.K775R	SBF1_ENST00000390679.3_Missense_Mutation_p.K775R|SBF1_ENST00000348911.6_Missense_Mutation_p.K776R	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN	SET binding factor 1						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)		TAGGCGGCTCTTGCTGCTGTC	0.657													C	50900706	T	C	50900706	3	2	667	1	0	0	0	0	1	0	0	0	13950	1609	56	3	3449	3	SBF1	22	50900706	Missense_Mutation	SNP	T	TCGA-QH-A6CW-01A-11D-A32B-08		50900706	403860	47	52852											
PHF8	23133	broad.mit.edu	37	chrX	53965658	53965658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctgctttgctgtggccAggccctttttgggacgcttt	2	16	12	11	1	1	0	0	0	1	0	2	1	1	1	2	3	2	3	2	3	0	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:53965658A>G	ENST00000338154.6	-	22	3512	c.3008T>C	c.(3007-3009)cTg>cCg	p.L1003P	PHF8_ENST00000357988.5_Missense_Mutation_p.L1039P|PHF8_ENST00000338946.6_Missense_Mutation_p.L902P	NM_015107.2	NP_055922.1	Q9UPP1	PHF8_HUMAN	PHD finger protein 8	1039					brain development|G1/S transition of mitotic cell cycle|negative regulation of chromatin silencing at rDNA|positive regulation of transcription from RNA polymerase I promoter|transcription, DNA-dependent	nucleolus	chromatin binding|histone demethylase activity (H3-K27 specific)|histone demethylase activity (H3-K36 specific)|histone demethylase activity (H3-K9 specific)|histone demethylase activity (H4-K20 specific)|iron ion binding|methylated histone residue binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	40						TGCTGTGGCCAGGCCCTTTTT	0.547													G	53965658	A	G	53965658	3	3	667	1	0	0	0	0	1	0	0	0	11917	188	7	3	153	3	PHF8	23	53965658	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08		53965658	101304902	48	52853											
HEPH	9843	broad.mit.edu	37	chrX	65486345	65486345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcatgcagatccccataaAgaatgttgagatgctggcct	11	9	12	9	0	0	3	0	1	0	3	1	4	1	3	3	2	2	4	3	2	3	2			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:65486345A>G	ENST00000519389.1	+	21	3649	c.3470A>G	c.(3469-3471)aAg>aGg	p.K1157R	HEPH_ENST00000336279.5_Missense_Mutation_p.K836R|HEPH_ENST00000441993.2_Missense_Mutation_p.K1105R|HEPH_ENST00000374727.3_Missense_Mutation_p.K1106R|HEPH_ENST00000419594.1_Missense_Mutation_p.K914R|HEPH_ENST00000343002.2_Missense_Mutation_p.K1103R			Q9BQS7	HEPH_HUMAN	hephaestin	1103					cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						ATCCCCATAAAGAATGTTGAG	0.488													G	65486345	A	G	65486345	3	3	667	1	0	0	0	0	1	0	0	0	7109	72	3	3	3552	3	HEPH	23	65486345	Missense_Mutation	SNP	A	TCGA-QH-A6CW-01A-11D-A32B-08	11520687	65486345	89784215	49	52854											
ATRX	546	broad.mit.edu	37	chrX	76814303	76814306	+	Frame_Shift_Del	DEL	ATAA	ATAA	-																															atcctgctttagtagaaatgAtaaataatcgtcctctgaaa																										TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:76814303_76814306delATAA	ENST00000373344.5	-	29	6552_6555	c.6338_6341delTTAT	c.(6337-6342)tttatcfs	p.FI2113fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.FI2075fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2113	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.F2113fs*9(1)|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)	AGTAGAAATGATAAATAATCGTCC	0.289			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76814306	ATAA	-	76814303	7	5	667	1	0	1	0	1	0	0	0	0	1213	333	12	0	1165	0	ATRX	23	76814303	Frame_Shift_Del	DEL	ATAA	TCGA-QH-A6CW-01A-11D-A32B-08	11327958	76814303	78456257	50	52855											
AMOT	154796	broad.mit.edu	37	chrX	112048276	112048276	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	attggtagaacgggcagtggCcagctccgcttccagcttct	7	10	12	12	2	1	1	0	0	1	1	3	1	3	1	3	3	3	5	3	3	2	4			TCGA-QH-A6CW-01A-11D-A32B-08	TCGA-QH-A6CW-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fbd92bcc-4d34-4586-96c0-90bb8b7431f8	49042d83-e264-4d8a-8b35-d842cc7b767f	g.chrX:112048276C>G	ENST00000371959.3	-	5	1674	c.1675G>C	c.(1675-1677)Gcc>Ccc	p.A559P	AMOT_ENST00000524145.1_Missense_Mutation_p.A559P|AMOT_ENST00000371962.1_Missense_Mutation_p.A327P|AMOT_ENST00000304758.1_Missense_Mutation_p.A150P|AMOT_ENST00000371958.1_Missense_Mutation_p.A327P	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	559					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						CGGGCAGTGGCCAGCTCCGCT	0.522													G	112048276	C	G	112048276	3	3	667	1	0	0	0	0	1	0	0	0	582	739	26	4	1607	4	AMOT	23	112048276	Missense_Mutation	SNP	C	TCGA-QH-A6CW-01A-11D-A32B-08	35233973	112048276	43222284	51	52856											
TTC22	55001	broad.mit.edu	37	chr1	55251700	55251700	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagttgagttctggatctcGtaggacatccagggccatgt	8	11	12	10	1	2	1	0	1	2	0	4	3	3	3	3	3	0	3	3	3	1	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:55251700G>A	ENST00000371276.4	-	5	1079	c.976C>T	c.(976-978)Cga>Tga	p.R326*	TTC22_ENST00000371274.4_Nonsense_Mutation_p.R326*	NM_001114108.1	NP_001107580.1	Q5TAA0	TTC22_HUMAN	tetratricopeptide repeat domain 22	326							binding			kidney(1)|large_intestine(1)|lung(7)|skin(1)	10						TCTGGATCTCGTAGGACATCC	0.542													A	55251700	G	A	55251700	4	1	668	1	0	0	0	0	0	1	0	0	16791	1153	40	1	848	1	TTC22	1	55251700	Nonsense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		55251700	193998921	1	52857											
LHX8	431707	broad.mit.edu	37	chr1	75622617	75622617	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcacgccacaagaaacacGtcagtcctaatcactcatcc	14	6	6	15	2	3	1	3	0	0	1	5	2	5	1	3	0	2	1	3	0	3	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:75622617G>A	ENST00000294638.5	+	9	1514	c.850G>A	c.(850-852)Gtc>Atc	p.V284I	LHX8_ENST00000356261.3_Missense_Mutation_p.V274I	NM_001001933.1	NP_001001933.1	Q68G74	LHX8_HUMAN	LIM homeobox 8	284						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(18)|ovary(3)|urinary_tract(1)	30						CAAGAAACACGTCAGTCCTAA	0.502													A	75622617	G	A	75622617	3	1	668	1	0	0	0	0	1	0	0	0	8836	1145	40	1	880	1	LHX8	1	75622617	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	20370917	75622617	173628004	2	52858											
THEM5	284486	broad.mit.edu	37	chr1	151823573	151823573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggttggaaaagacagacCgacttcttctgggttggctg	8	11	13	9	1	2	2	0	0	2	2	2	4	2	3	2	4	0	3	2	4	2	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:151823573C>T	ENST00000368817.5	-	3	551	c.420G>A	c.(418-420)tcG>tcA	p.S140S		NM_182578.3	NP_872384	Q8N1Q8	THEM5_HUMAN	thioesterase superfamily member 5	140							hydrolase activity	p.S140S(1)		breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)|skin(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			AAAGACAGACCGACTTCTTCT	0.567													T	151823573	C	T	151823573	2	4	668	1	0	0	0	0	0	0	0	1	15959	639	23	1		1	THEM5	1	151823573	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	76200956	151823573	97427048	3	52859											
ZC3H11A	9877	broad.mit.edu	37	chr1	203819140	203819140	+	Frame_Shift_Del	DEL	A	A	-																															atgtgcagcacagaccttggAaaaaaggggtaaaggcaagt																										TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:203819140delA	ENST00000545588.1	+	14	5752	c.1925delA	c.(1924-1926)gaafs	p.E642fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Del_p.E642fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Del_p.E642fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	642							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CAGACCTTGGAAAAAAGGGGT	0.418													-	203819140	A	-	203819140	7	5	668	1	0	1	0	1	0	0	0	0	17661	246	9	0	1975	0	ZC3H11A	1	203819140	Frame_Shift_Del	DEL	A	TCGA-QH-A6CX-01A-11D-A32B-08	51995567	203819140	45431481	4	52860											
GOLT1A	127845	broad.mit.edu	37	chr1	204170871	204170871	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggttcccttgagtttgtgCcgttggaagaagaaccaaaa	11	11	11	8	1	0	3	0	1	0	2	1	4	1	4	3	2	2	3	3	2	5	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:204170871C>T	ENST00000308302.3	-	3	371	c.186G>A	c.(184-186)cgG>cgA	p.R62R		NM_198447.1	NP_940849.1	Q6ZVE7	GOT1A_HUMAN	golgi transport 1A	62					protein transport|vesicle-mediated transport	Golgi membrane|integral to membrane		p.R62R(1)		kidney(1)|lung(2)|urinary_tract(1)	4	all_cancers(21;0.0165)|Breast(84;0.179)|all_epithelial(62;0.242)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.244)			TGAGTTTGTGCCGTTGGAAGA	0.567													T	204170871	C	T	204170871	2	4	668	1	0	0	0	0	0	0	0	1	6623	726	26	2		2	GOLT1A	1	204170871	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	351731	204170871	45079750	5	52861											
TMEM81	388730	broad.mit.edu	37	chr1	205052694	205052694	+	Frame_Shift_Del	DEL	C	C	-																															gaagctgtcactgctgcaggCccccccttagcgcacagagg																										TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:205052694delC	ENST00000367167.3	-	1	951	c.755delG	c.(754-756)ggcfs	p.G252fs		NM_203376.1	NP_976310.1	Q6P7N7	TMM81_HUMAN	transmembrane protein 81	252						integral to membrane				endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9	all_cancers(21;0.144)|Breast(84;0.0437)		BRCA - Breast invasive adenocarcinoma(75;0.0923)			CTGCTGCAGGCCCCCCCTTAG	0.537													-	205052694	C	-	205052694	7	5	668	1	0	1	0	1	0	0	0	0	16305	739	26	0	16	0	TMEM81	1	205052694	Frame_Shift_Del	DEL	C	TCGA-QH-A6CX-01A-11D-A32B-08	881823	205052694	44197927	6	52862											
MIA3	375056	broad.mit.edu	37	chr1	222838722	222838722	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caccaggaagacgggacctgCctctccaccctcggggattt	8	7	11	15	2	1	1	0	0	1	1	3	4	1	4	5	4	1	0	5	4	1	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:222838722C>A	ENST00000344922.5	+	28	5510	c.5485C>A	c.(5485-5487)Cct>Act	p.P1829T	MIA3_ENST00000344441.6_Missense_Mutation_p.P1829T|MIA3_ENST00000344507.1_Intron|MIA3_ENST00000340535.7_Missense_Mutation_p.P707T	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	1829	Pro-rich.				exocytosis|negative regulation of cell adhesion|negative regulation of cell migration|positive regulation of leukocyte migration|protein transport|wound healing	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		ACGGGACCTGCCTCTCCACCC	0.493													A	222838722	C	A	222838722	3	1	668	1	0	0	0	0	1	0	0	0	9640	739	26	4	5595	4	MIA3	1	222838722	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	17786028	222838722	26411899	7	52863											
OR2L3	391192	broad.mit.edu	37	chr1	248224254	248224254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtctggtaacaagtctAtctccttcactgggtgtggg	6	15	11	9	0	5	0	1	0	4	0	6	0	5	0	1	3	1	1	1	3	3	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr1:248224254A>G	ENST00000359959.3	+	1	271	c.271A>G	c.(271-273)Atc>Gtc	p.I91V	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	91					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			TAACAAGTCTATCTCCTTCAC	0.433													G	248224254	A	G	248224254	3	3	668	1	0	0	0	0	1	0	0	0	11084	449	16	3	273	3	OR2L3	1	248224254	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	25385532	248224254	1026367	8	52864											
ASTL	431705	broad.mit.edu	37	chr2	96789808	96789808	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgaggctgccttgcCgaggcctctgcactgagctt	5	10	14	12	1	2	2	0	2	2	0	2	3	2	2	3	3	4	3	3	3	0	2	rs148115152		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:96789808C>T	ENST00000342380.2	-	9	1076	c.1077G>A	c.(1075-1077)tcG>tcA	p.S359S		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	359					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						GCTGCCTTGCCGAGGCCTCTG	0.662													T	96789808	C	T	96789808	2	4	668	1	0	0	0	0	0	0	0	1	1068	639	23	1		1	ASTL	2	96789808	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		96789808	146409565	9	52865											
EDAR	10913	broad.mit.edu	37	chr2	109513512	109513512	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcctgccgtgctgatgcGgtcaaagagttgcatgccgt	7	10	14	10	3	1	2	1	1	0	1	1	2	1	2	3	1	6	4	3	1	2	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109513512G>A	ENST00000409271.1	-	12	1737	c.1294C>T	c.(1294-1296)Cgc>Tgc	p.R432C	EDAR_ENST00000376651.1_Missense_Mutation_p.R432C|EDAR_ENST00000258443.2_Missense_Mutation_p.R400C			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	400					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						GTGCTGATGCGGTCAAAGAGT	0.562													A	109513512	G	A	109513512	3	1	668	1	0	0	0	0	1	0	0	0	4944	1116	39	1	152	1	EDAR	2	109513512	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	12723704	109513512	133685861	10	52866											
EDAR	10913	broad.mit.edu	37	chr2	109527458	109527458	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgatgatgaggacgatggcGatggccatgatgaagatggt	12	9	16	4	2	0	6	0	5	0	1	0	9	0	7	1	4	0	0	1	4	1	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:109527458G>A	ENST00000409271.1	-	8	1043	c.600C>T	c.(598-600)atC>atT	p.I200I	EDAR_ENST00000376651.1_Silent_p.I200I|EDAR_ENST00000258443.2_Silent_p.I200I			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor	200					apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						ggacgatggcgatggccatga	0.577													A	109527458	G	A	109527458	2	1	668	1	0	0	0	0	0	0	0	1	4944	1048	37	1		1	EDAR	2	109527458	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	13946	109527458	133671915	11	52867											
COL3A1	1281	broad.mit.edu	37	chr2	189873659	189873659	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcattctagggctccccaGgccacccagggcaaccaggc	9	5	10	17	0	2	0	1	0	1	0	3	0	3	0	5	4	1	2	5	4	2	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:189873659G>A	ENST00000304636.3	+	48	3705	c.3535G>A	c.(3535-3537)Ggc>Agc	p.G1179S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G876S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1179	Triple-helical region.		G -> R (in EDS4).		axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)|Palifermin(DB00039)	GGGCTCCCCAGGCCACCCAGG	0.522													A	189873659	G	A	189873659	3	1	668	1	0	0	0	0	1	0	0	0	3719	1000	35	2	3725	2	COL3A1	2	189873659	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	80346201	189873659	53325714	12	52868											
IKZF2	22807	broad.mit.edu	37	chr2	213872293	213872293	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctccattgaagaccttgtAgatgtccttcagagagccct	9	13	8	11	0	2	4	1	1	1	3	4	5	3	4	4	0	1	1	4	0	2	5			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr2:213872293A>C	ENST00000457361.1	-	8	1540	c.1372T>G	c.(1372-1374)Tac>Gac	p.Y458D	IKZF2_ENST00000451136.2_Missense_Mutation_p.Y386D|AC079610.1_ENST00000415387.1_RNA|IKZF2_ENST00000342002.2_Missense_Mutation_p.Y464D|IKZF2_ENST00000374327.4_Missense_Mutation_p.Y313D|IKZF2_ENST00000434687.1_Missense_Mutation_p.Y458D|IKZF2_ENST00000374319.4_Missense_Mutation_p.Y432D|IKZF2_ENST00000421754.2_Missense_Mutation_p.Y384D|IKZF2_ENST00000413091.3_3'UTR	NM_016260.2	NP_057344.2	Q9UKS7	IKZF2_HUMAN	IKAROS family zinc finger 2 (Helios)	458					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23		Esophageal squamous(248;0.0559)|Renal(323;0.218)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;2.97e-07)|all cancers(144;1.53e-05)|LUSC - Lung squamous cell carcinoma(224;0.00599)|Lung(261;0.00792)		AAGACCTTGTAGATGTCCTTC	0.473													C	213872293	A	C	213872293	3	2	668	1	0	0	0	0	1	0	0	0	7673	420	15	5	212	5	IKZF2	2	213872293	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	23998634	213872293	29327080	13	52869											
SCN5A	6331	broad.mit.edu	37	chr3	38645309	38645309	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccaccccattgcagtccAcagtgctgttctttttgcca	8	12	7	14	0	1	1	0	0	1	1	2	1	2	1	5	0	3	3	5	0	0	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:38645309A>C	ENST00000413689.1	-	12	1977	c.1784T>G	c.(1783-1785)gTg>gGg	p.V595G	SCN5A_ENST00000333535.4_Missense_Mutation_p.V595G|SCN5A_ENST00000449557.2_Missense_Mutation_p.V595G|SCN5A_ENST00000414099.2_Missense_Mutation_p.V595G|SCN5A_ENST00000443581.1_Missense_Mutation_p.V595G|SCN5A_ENST00000450102.2_Missense_Mutation_p.V595G|SCN5A_ENST00000451551.2_Missense_Mutation_p.V595G|SCN5A_ENST00000423572.2_Missense_Mutation_p.V595G|SCN5A_ENST00000455624.2_Missense_Mutation_p.V595G|SCN5A_ENST00000425664.1_Missense_Mutation_p.V595G	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	595					blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	ATTGCAGTCCACAGTGCTGTT	0.667													C	38645309	A	C	38645309	3	2	668	1	0	0	0	0	1	0	0	0	14015	159	6	5	4334	5	SCN5A	3	38645309	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08		38645309	159377121	14	52870											
CCR9	10803	broad.mit.edu	37	chr3	45943164	45943164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgccgtttccaccaacaTtgacatctgcttccaggtca	8	12	7	14	1	2	1	1	1	1	0	4	1	4	1	4	1	3	2	4	1	1	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:45943164T>C	ENST00000357632.2	+	3	1064	c.884T>C	c.(883-885)aTt>aCt	p.I295T	LZTFL1_ENST00000539217.1_Intron|CCR9_ENST00000355983.2_Missense_Mutation_p.I283T|CCR9_ENST00000395963.2_Missense_Mutation_p.I283T|CCR9_ENST00000422395.1_3'UTR|LZTFL1_ENST00000536047.1_Intron	NM_001256369.1|NM_031200.2	NP_001243298.1|NP_112477.1	P51686	CCR9_HUMAN	chemokine (C-C motif) receptor 9	295					cellular defense response|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane				breast(1)|endometrium(4)|large_intestine(8)|lung(2)|ovary(2)|prostate(2)|skin(1)	20				BRCA - Breast invasive adenocarcinoma(193;0.00118)|KIRC - Kidney renal clear cell carcinoma(197;0.0182)|Kidney(197;0.0214)		TCCACCAACATTGACATCTGC	0.498													C	45943164	T	C	45943164	3	2	668	1	0	0	0	0	1	0	0	0	2978	1493	52	3	890	3	CCR9	3	45943164	Missense_Mutation	SNP	T	TCGA-QH-A6CX-01A-11D-A32B-08	7297855	45943164	152079266	15	52871											
OR5H14	403273	broad.mit.edu	37	chr3	97868982	97868982	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttatctgtatctttataCtatgggcccctcgccttcat	6	17	5	13	1	4	0	1	0	3	0	5	0	4	0	3	1	1	1	3	1	5	7			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:97868982C>A	ENST00000437310.1	+	1	813	c.753C>A	c.(751-753)taC>taA	p.Y251*		NM_001005514.1	NP_001005514.1	A6NHG9	O5H14_HUMAN	olfactory receptor, family 5, subfamily H, member 14	251					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TATCTTTATACTATGGGCCCC	0.413													A	97868982	C	A	97868982	4	1	668	1	0	0	0	0	0	1	0	0	11236	576	20	4	755	4	OR5H14	3	97868982	Nonsense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	51925818	97868982	100153448	16	52872											
ABI3BP	25890	broad.mit.edu	37	chr3	100585771	100585771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacctctggtgttttagattCggcaggtaatgccaaggttt	9	14	11	7	1	1	1	0	0	1	1	2	1	1	1	2	4	2	4	2	4	4	5			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:100585771C>T	ENST00000471714.1	-	10	1070	c.961G>A	c.(961-963)Gaa>Aaa	p.E321K	ABI3BP_ENST00000284322.5_Missense_Mutation_p.E321K|ABI3BP_ENST00000495063.1_Missense_Mutation_p.E321K			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	321						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						GTTTTAGATTCGGCAGGTAAT	0.373													T	100585771	C	T	100585771	3	4	668	1	0	0	0	0	1	0	0	0	91	893	31	1	2370	1	ABI3BP	3	100585771	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	2716789	100585771	97436659	17	52873											
TRIM42	287015	broad.mit.edu	37	chr3	140397391	140397391	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcactttccacaagggccGcctcaggagcatccatacct	10	8	7	16	1	2	0	2	0	0	0	4	1	4	1	5	2	2	1	5	2	2	2	rs146449412		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr3:140397391G>A	ENST00000286349.3	+	1	511	c.320G>A	c.(319-321)cGc>cAc	p.R107H		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	107						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						CACAAGGGCCGCCTCAGGAGC	0.552													A	140397391	G	A	140397391	3	1	668	1	0	0	0	0	1	0	0	0	16618	1087	38	1	322	1	TRIM42	3	140397391	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	39811620	140397391	57625039	18	52874											
PCDHB6	56130	broad.mit.edu	37	chr5	140530216	140530216	+	Frame_Shift_Del	DEL	T	T	-																															ttgcgagtcagagatataaaTgaccacgccccggaattccc																										TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:140530216delT	ENST00000231136.1	+	1	378	c.378delT	c.(376-378)aatfs	p.N126fs	PCDHB6_ENST00000543635.1_5'UTR	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		126	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	p.N126K(1)		cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGATATAAATGACCACGCCC	0.453													-	140530216	T	-	140530216	7	5	668	1	0	1	0	1	0	0	0	0	11622	1461	51	0	380	0	PCDHB6	5	140530216	Frame_Shift_Del	DEL	T	TCGA-QH-A6CX-01A-11D-A32B-08		140530216	40385044	19	52875											
PDE6A	5145	broad.mit.edu	37	chr5	149313501	149313501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagccccttacctggccacGtcgagtttcacagttgtgca	8	10	9	14	2	1	0	1	0	0	0	2	1	1	0	4	1	3	3	4	1	2	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:149313501G>A	ENST00000255266.5	-	3	828	c.709C>T	c.(709-711)Cgt>Tgt	p.R237C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	237					cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding	p.R237C(1)		breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ACCTGGCCACGTCGAGTTTCA	0.473													A	149313501	G	A	149313501	3	1	668	1	0	0	0	0	1	0	0	0	11721	1145	40	1	1953	1	PDE6A	5	149313501	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	8783285	149313501	31601759	20	52876											
DOCK2	1794	broad.mit.edu	37	chr5	169127065	169127065	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggtgacatcattcagattCgcaaggactatccacacctg	11	10	9	11	1	2	2	2	1	0	1	4	3	3	3	2	2	0	1	2	2	2	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr5:169127065C>T	ENST00000256935.8	+	13	1260	c.1180C>T	c.(1180-1182)Cgc>Tgc	p.R394C		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	394					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CATTCAGATTCGCAAGGACTA	0.562													T	169127065	C	T	169127065	3	4	668	1	0	0	0	0	1	0	0	0	4726	884	31	1	1230	1	DOCK2	5	169127065	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	19813564	169127065	11788195	21	52877											
SCAND3	114821	broad.mit.edu	37	chr6	28540855	28540855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctagttgtgtttgtaggCaaagaggctgaaaaaaagaa	16	9	13	3	0	0	3	0	1	0	2	0	4	0	3	0	2	1	6	0	2	7	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:28540855C>G	ENST00000452236.2	-	4	3428	c.2811G>C	c.(2809-2811)ttG>ttC	p.L937F		NM_052923.1	NP_443155.1	Q6R2W3	SCND3_HUMAN	SCAN domain containing 3	937					DNA integration|viral reproduction	nucleus	DNA binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity			NS(3)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(14)|liver(1)|lung(29)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)	71						tgtttgtaggcaaagaggctg	0.318													G	28540855	C	G	28540855	3	3	668	1	0	0	0	0	1	0	0	0	13968	709	25	4	1170	4	SCAND3	6	28540855	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		28540855	142574212	22	52878											
RPS18	6222	broad.mit.edu	37	chr6	33243984	33243984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctggacaacaagctccGtgaagacctggagcgactga	11	7	13	10	2	1	3	0	2	1	1	2	6	2	5	2	3	3	1	2	3	3	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:33243984G>A	ENST00000439602.2	+	5	433	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RPS18_ENST00000474973.1_Missense_Mutation_p.R38H|RPS18_ENST00000476222.1_3'UTR			P62269	RS18_HUMAN	ribosomal protein S18	108					endocrine pancreas development|ribosome biogenesis|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	rRNA binding|structural constituent of ribosome			kidney(2)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	9						AACAAGCTCCGTGAAGACCTG	0.572													A	33243984	G	A	33243984	3	1	668	1	0	0	0	0	1	0	0	0	13719	1145	40	1	341	1	RPS18	6	33243984	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	4703129	33243984	137871083	23	52879											
GJA10	84694	broad.mit.edu	37	chr6	90605138	90605138	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagtagacccttccaaTgggaaaaaggactggtctga	13	9	11	8	0	1	3	0	2	1	1	2	5	2	5	2	3	0	1	2	3	5	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:90605138T>C	ENST00000369352.1	+	1	951	c.951T>C	c.(949-951)aaT>aaC	p.N317N		NM_032602.1	NP_115991.1	Q969M2	CXA10_HUMAN	gap junction protein, alpha 10, 62kDa	317					synaptic transmission	connexon complex|integral to membrane	gap junction channel activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(10)|lung(17)|ovary(1)|skin(3)|urinary_tract(1)	37		all_cancers(76;5.71e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00527)		BRCA - Breast invasive adenocarcinoma(108;0.0915)		ACCCTTCCAATGGGAAAAAGG	0.502													C	90605138	T	C	90605138	2	2	668	1	0	0	0	0	0	0	0	1	6457	1461	51	3		3	GJA10	6	90605138	Silent	SNP	T	TCGA-QH-A6CX-01A-11D-A32B-08	57361154	90605138	80509929	24	52880											
ROS1	6098	broad.mit.edu	37	chr6	117704649	117704649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaatgtctgtgtgtcccGtcaacacagactgcctttgt	9	13	8	11	1	2	1	1	0	1	1	3	1	3	1	2	0	3	0	2	0	3	2	rs149313880	byFrequency	TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:117704649G>A	ENST00000368508.3	-	16	2525	c.2327C>T	c.(2326-2328)aCg>aTg	p.T776M	GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Missense_Mutation_p.T771M	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	776					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TGTGTGTCCCGTCAACACAGA	0.383			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								A	117704649	G	A	117704649	3	1	668	1	0	0	0	0	1	0	0	0	13622	1145	40	1	4828	1	ROS1	6	117704649	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	27099511	117704649	53410418	25	52881											
SYNE1	23345	broad.mit.edu	37	chr6	152722323	152722323	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attttgggcacagttcatcaAcgattcttccacttttgtga	9	16	7	9	1	3	1	2	1	1	0	4	2	4	1	1	1	1	2	1	1	1	7			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr6:152722323A>G	ENST00000367255.5	-	47	7580	c.6979T>C	c.(6979-6981)Ttg>Ctg	p.L2327L	SYNE1_ENST00000448038.1_Silent_p.L2334L|SYNE1_ENST00000341594.5_Silent_p.L2364L|SYNE1_ENST00000265368.4_Silent_p.L2327L|SYNE1_ENST00000423061.1_Silent_p.L2334L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2327					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)		CAGTTCATCAACGATTCTTCC	0.368										HNSCC(10;0.0054)			G	152722323	A	G	152722323	2	3	668	1	0	0	0	0	0	0	0	1	15542	40	2	3		3	SYNE1	6	152722323	Silent	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	35017674	152722323	18392744	26	52882											
BBS9	27241	broad.mit.edu	37	chr7	33644509	33644509	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caatcccagagtcagacctaGaagaaagatcagtagaacaa	19	5	8	9	0	2	6	2	0	0	6	3	6	3	6	2	0	1	1	2	0	7	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:33644509G>C	ENST00000242067.6	+	22	3075	c.2554G>C	c.(2554-2556)Gaa>Caa	p.E852Q	BBS9_ENST00000354265.4_Missense_Mutation_p.E817Q|BBS9_ENST00000396127.2_Missense_Mutation_p.E817Q|BBS9_ENST00000355070.2_Missense_Mutation_p.E847Q|BBS9_ENST00000350941.3_Missense_Mutation_p.E812Q	NM_198428.2	NP_940820.1	Q3SYG4	PTHB1_HUMAN	Bardet-Biedl syndrome 9	852					fat cell differentiation|response to stimulus|visual perception	BBSome|cilium membrane|microtubule organizing center|nucleus	protein binding		BBS9/PKD1L1(2)	NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	50			GBM - Glioblastoma multiforme(11;0.0894)			GTCAGACCTAGAAGAAAGATC	0.418									Bardet-Biedl syndrome				C	33644509	G	C	33644509	3	2	668	1	0	0	0	0	1	0	0	0	1347	943	33	4	2636	4	BBS9	7	33644509	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		33644509	125494154	27	52883											
EGFR	1956	broad.mit.edu	37	chr7	55223604	55223604	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatggaggaagacggcgtccGcaagtgtaagaagtgcgaag	13	5	17	6	4	0	2	0	0	0	2	1	6	1	4	1	3	1	2	1	3	5	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:55223604G>T	ENST00000275493.2	+	8	1148	c.971G>T	c.(970-972)cGc>cTc	p.R324L	EGFR_ENST00000455089.1_Missense_Mutation_p.R279L|EGFR_ENST00000344576.2_Missense_Mutation_p.R324L|EGFR_ENST00000454757.2_Missense_Mutation_p.R271L|EGFR_ENST00000420316.2_Missense_Mutation_p.R324L|EGFR_ENST00000442591.1_Missense_Mutation_p.R324L|EGFR_ENST00000342916.3_Missense_Mutation_p.R324L	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	324					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R324L(2)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GACGGCGTCCGCAAGTGTAAG	0.602		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55223604	G	T	55223604	3	4	668	1	0	0	0	0	1	0	0	0	5006	1087	38	4	1001	4	EGFR	7	55223604	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	21579095	55223604	103915059	28	52884											
STEAP1	26872	broad.mit.edu	37	chr7	89791296	89791296	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggagatttatgtgtctctGggaattgtgggattggcaat	9	15	14	3	0	1	1	0	0	1	1	2	4	1	3	0	4	0	1	0	4	3	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr7:89791296G>A	ENST00000297205.2	+	4	866	c.666G>A	c.(664-666)ctG>ctA	p.L222L	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	222	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					ATGTGTCTCTGGGAATTGTGG	0.393													A	89791296	G	A	89791296	2	1	668	1	0	0	0	0	0	0	0	1	15373	1335	47	2		2	STEAP1	7	89791296	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	34567692	89791296	69347367	29	52885											
EFCAB1	79645	broad.mit.edu	37	chr8	49644012	49644012	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	accttgcctctctactcctcCcaccaagtcataaaaaagct	12	10	3	16	0	2	0	1	0	1	0	5	0	4	0	5	0	3	1	5	0	5	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr8:49644012C>T	ENST00000262103.3	-	2	189	c.109G>A	c.(109-111)Gga>Aga	p.G37R	EFCAB1_ENST00000523092.1_Intron|EFCAB1_ENST00000433756.1_Intron|EFCAB1_ENST00000521002.1_Intron	NM_024593.3	NP_078869.1	Q9HAE3	EFCB1_HUMAN	EF-hand calcium binding domain 1	37							calcium ion binding	p.G37*(1)		endometrium(1)|large_intestine(3)|lung(6)|pancreas(1)|prostate(1)|urinary_tract(2)	14		all_epithelial(80;0.0134)|Lung NSC(129;0.0207)|all_lung(136;0.0464)				TCTACTCCTCCCACCAAGTCA	0.338													T	49644012	C	T	49644012	3	4	668	1	0	0	0	0	1	0	0	0	4972	632	22	2	546	2	EFCAB1	8	49644012	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		49644012	96720010	30	52886											
PTEN	5728	broad.mit.edu	37	chr10	89720852	89720852	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaataaagacaaagccaacCgatacttttctccaaatttt	17	11	3	10	1	1	1	0	0	1	1	2	2	1	1	3	0	3	0	3	0	7	6	rs121909231		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr10:89720852C>T	ENST00000371953.3	+	8	2360	c.1003C>T	c.(1003-1005)Cga>Tga	p.R335*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	335	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R335*(25)|p.R55fs*1(5)|p.?(2)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.R335G(1)|p.W274_F341del(1)|p.D326_K342del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CAAAGCCAACCGATACTTTTC	0.333		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89720852	C	T	89720852	4	4	668	1	0	0	0	0	0	1	0	0	12823	644	23	1	1033	1	PTEN	10	89720852	Nonsense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		89720852	45813895	31	52887											
TH	7054	broad.mit.edu	37	chr11	2192950	2192950	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcctctgcctgcttggCgtccagctcagacacggccc	5	8	12	16	2	2	1	1	0	1	1	3	2	3	1	4	3	3	2	4	3	0	1			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:2192950C>T	ENST00000381178.1	-	1	85	c.67G>A	c.(67-69)Gcc>Acc	p.A23T	TH_ENST00000333684.5_Missense_Mutation_p.A23T|TH_ENST00000381175.1_Missense_Mutation_p.A23T|TH_ENST00000352909.3_Missense_Mutation_p.A23T	NM_199292.2	NP_954986.2	P07101	TY3H_HUMAN	tyrosine hydroxylase	23					dopamine biosynthetic process from tyrosine|embryonic camera-type eye morphogenesis|epinephrine biosynthetic process|eye photoreceptor cell development|heart morphogenesis|hormone biosynthetic process|learning|locomotory behavior|memory|neurotransmitter biosynthetic process|neurotransmitter secretion|norepinephrine biosynthetic process|pigmentation|regulation of heart contraction|response to ethanol|response to hypoxia|synaptic transmission, dopaminergic|visual perception	cytosol|internal side of plasma membrane|melanosome membrane|nucleus|perikaryon|smooth endoplasmic reticulum	protein binding|tyrosine 3-monooxygenase activity			NS(1)|endometrium(1)|large_intestine(1)|lung(7)|skin(1)	11		all_epithelial(84;1.46e-23)|Lung NSC(207;4.44e-11)|all_lung(207;1.11e-09)|Ovarian(85;1.78e-06)|Breast(177;1.78e-05)|Medulloblastoma(188;0.0208)|all_neural(188;0.0416)	Colorectal(5;0.00245)|COAD - Colon adenocarcinoma(6;0.0239)	BRCA - Breast invasive adenocarcinoma(625;8.45e-09)|Lung(200;0.000152)|LUSC - Lung squamous cell carcinoma(625;0.00154)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)|Metyrosine(DB00765)|Tetrahydrobiopterin(DB00360)	GCCTGCTTGGCGTCCAGCTCA	0.697													T	2192950	C	T	2192950	3	4	668	1	0	0	0	0	1	0	0	0	15938	768	27	1	1575	1	TH	11	2192950	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		2192950	132813566	32	52888											
UBE2L6	9246	broad.mit.edu	37	chr11	57322047	57322047	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcttgaacggatactccggcGggaagctgatgcgcaggttg	8	8	16	9	4	0	2	0	2	0	0	1	4	1	4	1	4	4	4	1	4	3	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:57322047G>A	ENST00000287156.4	-	3	368	c.173C>T	c.(172-174)cCg>cTg	p.P58L	UBE2L6_ENST00000340573.4_5'UTR	NM_004223.4	NP_004214.1	O14933	UB2L6_HUMAN	ubiquitin-conjugating enzyme E2L 6	58					negative regulation of type I interferon production	cytosol	protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(3)|ovary(1)	5						ATACTCCGGCGGGAAGCTGAT	0.542													A	57322047	G	A	57322047	3	1	668	1	0	0	0	0	1	0	0	0	16966	1116	39	1	296	1	UBE2L6	11	57322047	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	55129097	57322047	77684469	33	52889											
MS4A5	64232	broad.mit.edu	37	chr11	60197174	60197174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcaagcaccgcacacagtccGgtgtttctggtatttcctcc	7	12	8	14	2	2	0	1	0	1	0	5	0	5	0	4	2	1	4	4	2	2	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:60197174G>A	ENST00000300190.2	+	1	113	c.27G>A	c.(25-27)ccG>ccA	p.P9P	MS4A5_ENST00000534071.1_3'UTR	NM_023945.2	NP_076434.2	Q9H3V2	MS4A5_HUMAN	membrane-spanning 4-domains, subfamily A, member 5	9						integral to membrane	receptor activity			large_intestine(7)|lung(7)|ovary(1)|skin(1)	16						CACACAGTCCGGTGTTTCTGG	0.423													A	60197174	G	A	60197174	2	1	668	1	0	0	0	0	0	0	0	1	9939	1103	39	1		1	MS4A5	11	60197174	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	2875127	60197174	74809342	34	52890											
C11orf63	79864	broad.mit.edu	37	chr11	122817281	122817281	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcacccagataatggagcaGcatcagcaagccttggtgca	12	7	10	12	0	2	1	2	0	0	1	2	2	2	2	2	2	5	4	2	2	2	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr11:122817281G>A	ENST00000227349.2	+	6	2007	c.1710G>A	c.(1708-1710)caG>caA	p.Q570Q	C11orf63_ENST00000531316.1_Silent_p.Q570Q	NM_024806.2	NP_079082.2	Q6NUN7	CK063_HUMAN	chromosome 11 open reading frame 63	570										breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(13)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	47		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.018)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.34e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0311)		TAATGGAGCAGCATCAGCAAG	0.483													A	122817281	G	A	122817281	2	1	668	1	0	0	0	0	0	0	0	1	1666	962	34	2		2	C11orf63	11	122817281	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	62620107	122817281	12189235	35	52891											
RBM19	9904	broad.mit.edu	37	chr12	114374833	114374833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtttctggctctgctgggtCcttttccatgggttctgaag	3	17	12	9	0	3	1	0	1	3	0	5	1	5	1	2	3	1	4	2	3	1	4			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr12:114374833C>T	ENST00000545145.2	-	16	2125	c.2047G>A	c.(2047-2049)Gac>Aac	p.D683N	RBM19_ENST00000392561.3_Missense_Mutation_p.D683N|RBM19_ENST00000261741.5_Missense_Mutation_p.D683N|RP11-780K2.1_ENST00000550206.1_RNA	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	683					multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCTGCTGGGTCCTTTTCCATG	0.557													T	114374833	C	T	114374833	3	4	668	1	0	0	0	0	1	0	0	0	13209	855	30	2	871	2	RBM19	12	114374833	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		114374833	19477062	36	52892											
SLC28A1	9154	broad.mit.edu	37	chr15	85476483	85476483	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtccaagtttaggagggaGgaaggagtgaaactgaccta	14	7	15	5	0	0	2	0	2	0	0	1	7	1	6	2	4	1	1	2	4	5	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:85476483G>A	ENST00000394573.1	+	13	1393	c.1191G>A	c.(1189-1191)gaG>gaA	p.E397E	SLC28A1_ENST00000537216.1_Silent_p.E397E|SLC28A1_ENST00000286749.3_Silent_p.E397E|SLC28A1_ENST00000538177.1_Intron|SLC28A1_ENST00000537624.1_Silent_p.E397E	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	397					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TTAGGAGGGAGGAAGGAGTGA	0.592													A	85476483	G	A	85476483	2	1	668	1	0	0	0	0	0	0	0	1	14625	991	35	2		2	SLC28A1	15	85476483	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		85476483	17054909	37	52893											
IGF1R	3480	broad.mit.edu	37	chr15	99486176	99486176	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtatgacgcgagatatctAtgagacagactattaccgga	13	10	11	7	3	1	4	0	2	1	3	1	7	1	5	1	2	1	1	1	2	5	5			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr15:99486176A>G	ENST00000268035.6	+	19	4093	c.3482A>G	c.(3481-3483)tAt>tGt	p.Y1161C	IGF1R_ENST00000558762.1_Missense_Mutation_p.Y1160C	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	1161	Protein kinase.				anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CGAGATATCTATGAGACAGAC	0.552													G	99486176	A	G	99486176	3	3	668	1	0	0	0	0	1	0	0	0	7629	449	16	3	3556	3	IGF1R	15	99486176	Missense_Mutation	SNP	A	TCGA-QH-A6CX-01A-11D-A32B-08	14009693	99486176	3045216	38	52894											
MLKL	197259	broad.mit.edu	37	chr16	74712848	74712848	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgagcttctgatttttccGtggagttcaggtgcttctga	5	18	11	7	1	3	3	1	3	2	0	4	4	4	4	1	2	2	3	1	2	0	6			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr16:74712848G>A	ENST00000308807.7	-	7	1450	c.987C>T	c.(985-987)caC>caT	p.H329H	MLKL_ENST00000306247.7_Intron	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	329	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TGATTTTTCCGTGGAGTTCAG	0.507													A	74712848	G	A	74712848	2	1	668	1	0	0	0	0	0	0	0	1	9694	1136	40	1		1	MLKL	16	74712848	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		74712848	15641905	39	52895											
NF1	4763	broad.mit.edu	37	chr17	29556869	29556869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaggttttattgactgataCcaatactcaatttgtagaac	13	16	6	6	0	1	3	1	2	0	1	1	3	1	3	1	1	3	2	1	1	8	8			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:29556869C>T	ENST00000358273.4	+	22	3250	c.2867C>T	c.(2866-2868)aCc>aTc	p.T956I	NF1_ENST00000356175.3_Missense_Mutation_p.T956I	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	956					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGACTGATACCAATACTCAA	0.368			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29556869	C	T	29556869	3	4	668	1	0	0	0	0	1	0	0	0	10432	507	18	2	3014	2	NF1	17	29556869	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		29556869	51638341	40	52896											
MLLT6	4302	broad.mit.edu	37	chr17	36869336	36869336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtctgcagagagtgggggacGgcactcaggcctgctctcca	7	7	15	12	1	3	1	1	0	2	1	4	3	3	2	2	4	2	3	2	4	0	0			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr17:36869336G>A	ENST00000378137.5	+	9	1041	c.950G>A	c.(949-951)cGg>cAg	p.R317Q	MLLT6_ENST00000325718.7_Intron			P55198	AF17_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 6	0					regulation of transcription, DNA-dependent	nucleus	protein binding|zinc ion binding			breast(3)|lung(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(7;4.43e-21)					AGTGGGGGACGGCACTCAGGC	0.612			T	MLL	AL								A	36869336	G	A	36869336	3	1	668	1	0	0	0	0	1	0	0	0	9705	1131	39	1		1	MLLT6	17	36869336	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08	7312467	36869336	44325874	41	52897											
MUC16	94025	broad.mit.edu	37	chr19	9058191	9058191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagtcacaggaagaggagagGaggggctactgtctagtaat	14	7	15	5	0	2	2	1	0	1	2	2	5	2	4	0	5	1	2	0	5	5	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr19:9058191G>A	ENST00000397910.4	-	3	29458	c.29255C>T	c.(29254-29256)tCc>tTc	p.S9752F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9754	Ser-rich.|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						AAGAGGAGAGGAGGGGCTACT	0.473													A	9058191	G	A	9058191	3	1	668	1	0	0	0	0	1	0	0	0	10049	1174	41	2	14596	2	MUC16	19	9058191	Missense_Mutation	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		9058191	50070792	42	52898											
CHAF1B	8208	broad.mit.edu	37	chr21	37785365	37785365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttcgccaggacccagaccGgtagagggaacccctgccag	9	5	12	15	2	1	2	0	0	1	2	2	4	1	4	6	3	2	1	6	3	2	2			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr21:37785365G>A	ENST00000314103.5	+	12	1396	c.1245G>A	c.(1243-1245)ccG>ccA	p.P415P		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)						cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|cytoplasm	chromatin binding|histone binding|unfolded protein binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						GACCCAGACCGGTAGAGGGAA	0.577													A	37785365	G	A	37785365	2	1	668	1	0	0	0	0	0	0	0	1	3342	1103	39	1		1	CHAF1B	21	37785365	Silent	SNP	G	TCGA-QH-A6CX-01A-11D-A32B-08		37785365	10344530	43	52899											
SERPIND1	3053	broad.mit.edu	37	chr22	21133990	21133990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcgtcttaacatcctcaaCgccaagttcgctttcaacct	10	11	5	15	3	3	0	2	0	1	0	5	0	4	0	3	0	4	2	3	0	4	3	rs144089172		TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:21133990C>T	ENST00000215727.5	+	2	673	c.390C>T	c.(388-390)aaC>aaT	p.N130N	SERPIND1_ENST00000406799.1_Silent_p.N130N|PI4KA_ENST00000466162.1_Intron|PI4KA_ENST00000255882.6_Intron|PI4KA_ENST00000572273.1_Intron	NM_000185.3	NP_000176.2	P05546	HEP2_HUMAN	serpin peptidase inhibitor, clade D (heparin cofactor), member 1	130					blood coagulation|chemotaxis|regulation of proteolysis	extracellular region	heparin binding|serine-type endopeptidase inhibitor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(11;6.16e-25)|all_epithelial(7;1.02e-22)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000536)|Lung(15;0.0108)|Epithelial(17;0.196)		Ardeparin(DB00407)	ACATCCTCAACGCCAAGTTCG	0.498													T	21133990	C	T	21133990	2	4	668	1	0	0	0	0	0	0	0	1	14203	535	19	1		1	SERPIND1	22	21133990	Silent	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08		21133990	30170576	44	52900											
ADRBK2	157	broad.mit.edu	37	chr22	26083560	26083560	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttctctgagaaggagatgCggttttatgccactgaaatc	10	13	11	7	1	1	3	0	2	1	2	3	5	1	3	1	2	2	2	1	2	3	3			TCGA-QH-A6CX-01A-11D-A32B-08	TCGA-QH-A6CX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c54e640a-a02a-4687-9325-d6485c4fb4bb	91d4fca0-37c3-45ef-b4c9-487046bcca69	g.chr22:26083560C>T	ENST00000324198.6	+	11	1075	c.883C>T	c.(883-885)Cgg>Tgg	p.R295W		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2		Protein kinase.						ATP binding|beta-adrenergic receptor kinase activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	GAAGGAGATGCGGTTTTATGC	0.418													T	26083560	C	T	26083560	3	4	668	1	0	0	0	0	1	0	0	0	344	759	27	1	925	1	ADRBK2	22	26083560	Missense_Mutation	SNP	C	TCGA-QH-A6CX-01A-11D-A32B-08	4949570	26083560	25221006	45	52901											
PRG4	10216	broad.mit.edu	37	chr1	186276640	186276640	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaacctgcacccaccaccAccaagaagcctgcacccacc	13	2	6	20	0	0	1	0	0	0	1	0	2	0	2	8	1	4	2	8	1	3	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr1:186276640A>C	ENST00000445192.2	+	7	1834	c.1789A>C	c.(1789-1791)Acc>Ccc	p.T597P	PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367483.4_Missense_Mutation_p.T556P|PRG4_ENST00000367486.3_Missense_Mutation_p.T554P|PRG4_ENST00000367485.4_Missense_Mutation_p.T504P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	597	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.T597P(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						ACCCACCACCACCAAGAAGCC	0.652													C	186276640	A	C	186276640	3	2	669	1	0	0	0	0	1	0	0	0	12567	159	6	5	1811	5	PRG4	1	186276640	Missense_Mutation	SNP	A	TCGA-QH-A6CY-01A-11D-A32B-08		186276640	62973981	1	52902											
LYST	1130	broad.mit.edu	37	chr1	235929502	235929502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaatctggaggagatccaaGgacttctgctataattttca	13	12	8	8	0	3	1	1	0	2	1	4	4	4	3	1	3	1	1	1	3	4	5			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr1:235929502G>A	ENST00000389794.3	-	21	6172	c.5998C>T	c.(5998-6000)Ctt>Ttt	p.L2000F	LYST_ENST00000389793.2_Missense_Mutation_p.L2000F|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	2000					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GGAGATCCAAGGACTTCTGCT	0.378													A	235929502	G	A	235929502	3	1	669	1	0	0	0	0	1	0	0	0	9199	1000	35	2	5539	2	LYST	1	235929502	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	49652862	235929502	13321119	2	52903											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	669	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		209113112	34086261	3	52904											
STAG1	10274	broad.mit.edu	37	chr3	136240172	136240172	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatgctatactgacactgtcGaatcaggactccaataaatt	14	12	6	9	1	1	1	1	1	0	0	3	3	2	2	1	1	2	1	1	1	7	5			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr3:136240172G>A	ENST00000383202.2	-	7	815	c.559C>T	c.(559-561)Cga>Tga	p.R187*	STAG1_ENST00000236698.5_Nonsense_Mutation_p.R187*|STAG1_ENST00000480733.1_Nonsense_Mutation_p.R187*|STAG1_ENST00000434713.2_5'UTR	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	187					cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	p.R187*(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TGACACTGTCGAATCAGGACT	0.398													A	136240172	G	A	136240172	4	1	669	1	0	0	0	0	0	1	0	0	15338	1066	37	1	3329	1	STAG1	3	136240172	Nonsense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		136240172	61782258	4	52905											
ABCF3	55324	broad.mit.edu	37	chr3	183908941	183908941	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtttgagaagttctcgccGccaattctgcagctagatga	9	11	12	9	2	2	3	0	2	2	2	3	4	2	3	2	1	2	4	2	1	3	4			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr3:183908941G>A	ENST00000429586.2	+	16	1652	c.1467G>A	c.(1465-1467)ccG>ccA	p.P489P	ABCF3_ENST00000292808.5_Silent_p.P483P|EIF2B5_ENST00000444495.1_Intron	NM_018358.2	NP_060828.2	Q9NUQ8	ABCF3_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 3	489							ATP binding|ATPase activity			breast(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(20)|ovary(3)|prostate(5)|upper_aerodigestive_tract(1)	39	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.35e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			AGTTCTCGCCGCCAATTCTGC	0.567													A	183908941	G	A	183908941	2	1	669	1	0	0	0	0	0	0	0	1	67	1074	38	1		1	ABCF3	3	183908941	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	47668769	183908941	14113489	5	52906											
ABLIM2	84448	broad.mit.edu	37	chr4	8055951	8055951	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctggctgcttgtcgacaCgccggatgccagatggagga	7	9	15	10	3	1	1	0	0	1	1	2	5	1	4	2	4	2	3	2	4	0	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:8055951C>T	ENST00000318888.4	-	8	928	c.57G>A	c.(55-57)gcG>gcA	p.A19A	ABLIM2_ENST00000361581.5_Silent_p.A262A|ABLIM2_ENST00000341937.5_Silent_p.A262A|ABLIM2_ENST00000545242.1_Silent_p.A262A|ABLIM2_ENST00000296372.8_Silent_p.A262A|ABLIM2_ENST00000361737.5_Silent_p.A262A|ABLIM2_ENST00000546334.1_Silent_p.A262A|ABLIM2_ENST00000447017.2_Silent_p.A262A|ABLIM2_ENST00000407564.3_Silent_p.A262A|ABLIM2_ENST00000428004.2_Silent_p.A262A|ABLIM2_ENST00000514025.1_Silent_p.A19A|ABLIM2_ENST00000505872.1_Silent_p.A262A			Q6H8Q1	ABLM2_HUMAN	actin binding LIM protein family, member 2	262					axon guidance|cytoskeleton organization	actin cytoskeleton|cytoplasm|intermediate filament cytoskeleton|nucleus	actin binding|zinc ion binding			NS(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|pancreas(3)|prostate(2)|urinary_tract(1)	25						CTTGTCGACACGCCGGATGCC	0.502													T	8055951	C	T	8055951	2	4	669	1	0	0	0	0	0	0	0	1	95	523	19	1		1	ABLIM2	4	8055951	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		8055951	183098325	6	52907											
GPR125	166647	broad.mit.edu	37	chr4	22390725	22390725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actcactagggtgcgtttggCcgactgccgtaattcttaat	8	13	10	10	3	2	0	1	0	1	0	2	1	2	0	2	2	2	2	2	2	3	5			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:22390725C>T	ENST00000334304.5	-	18	2978	c.2709G>A	c.(2707-2709)cgG>cgA	p.R903R	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	903					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	p.R903R(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GTGCGTTTGGCCGACTGCCGT	0.418													T	22390725	C	T	22390725	2	4	669	1	0	0	0	0	0	0	0	1	6693	726	26	2		2	GPR125	4	22390725	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	14334774	22390725	168763551	7	52908											
ANKRD17	26057	broad.mit.edu	37	chr4	73957008	73957008	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggttcctgagaaacagatcCcggaggttgttgctgattag	9	12	13	7	1	0	3	0	2	0	2	2	5	2	4	2	3	2	4	2	3	2	4			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:73957008C>A	ENST00000358602.4	-	29	6453	c.6337G>T	c.(6337-6339)Gga>Tga	p.G2113*	ANKRD17_ENST00000509867.2_Nonsense_Mutation_p.G2000*|ANKRD17_ENST00000330838.6_Nonsense_Mutation_p.G1862*	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	2113					interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			GAAACAGATCCCGGAGGTTGT	0.483													A	73957008	C	A	73957008	4	1	669	1	0	0	0	0	0	1	0	0	646	632	22	4	1498	4	ANKRD17	4	73957008	Nonsense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	51566283	73957008	117197268	8	52909											
PTPN13	5783	broad.mit.edu	37	chr4	87696669	87696669	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattaatccaaggtccgtcGcagccattgagggtaatctc	11	11	9	10	2	1	1	0	1	1	0	5	1	3	1	3	2	1	2	3	2	4	4			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr4:87696669G>A	ENST00000436978.1	+	35	6250	c.5770G>A	c.(5770-5772)Gca>Aca	p.A1924T	PTPN13_ENST00000411767.2_Missense_Mutation_p.A1919T|PTPN13_ENST00000427191.2_Missense_Mutation_p.A1900T|PTPN13_ENST00000511467.1_Missense_Mutation_p.A1924T|PTPN13_ENST00000316707.6_Missense_Mutation_p.A1728T	NM_080683.2|NM_080685.2	NP_542414.1|NP_542416.1	Q12923	PTN13_HUMAN	protein tyrosine phosphatase, non-receptor type 13 (APO-1/CD95 (Fas)-associated phosphatase)	1919	PDZ 5.					cytoplasm|cytoskeleton|plasma membrane	protein binding|protein tyrosine phosphatase activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(23)|lung(24)|ovary(4)|prostate(3)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	93		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00082)		AAGGTCCGTCGCAGCCATTGA	0.383													A	87696669	G	A	87696669	3	1	669	1	0	0	0	0	1	0	0	0	12868	1087	38	1	5904	1	PTPN13	4	87696669	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	13739661	87696669	103457607	9	52910											
OCLN	100506658	broad.mit.edu	37	chr5	68849441	68849441	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aatcattgcaagcagttaaaGagcaaattgtcacacatcaa	18	9	6	8	0	3	1	3	0	0	1	3	1	3	1	0	0	3	4	0	0	6	3	rs140334684	by1000genomes	TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr5:68849441G>C	ENST00000355237.2	+	9	1948	c.1512G>C	c.(1510-1512)aaG>aaC	p.K504N	OCLN_ENST00000380766.2_Missense_Mutation_p.K450N|OCLN_ENST00000396442.2_Missense_Mutation_p.K504N|OCLN_ENST00000542132.1_Missense_Mutation_p.K182N|OCLN_ENST00000514370.1_3'UTR|OCLN_ENST00000538151.1_Missense_Mutation_p.K253N	NM_002538.3	NP_002529.1	Q16625	OCLN_HUMAN	occludin	504					cellular component disassembly involved in apoptosis|protein complex assembly	integral to membrane|tight junction	protein binding|structural molecule activity			endometrium(2)|large_intestine(1)|liver(1)|prostate(1)|skin(1)	6		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AGCAGTTAAAGAGCAAATTGT	0.348													C	68849441	G	C	68849441	3	2	669	1	0	0	0	0	1	0	0	0	10896	933	33	4	1542	4	OCLN	5	68849441	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		68849441	112065819	10	52911											
IQGAP2	10788	broad.mit.edu	37	chr5	75967776	75967776	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggtgtacaaggcttgggtGaaccaactagaaacacagac	15	6	12	8	0	0	3	0	1	0	2	0	4	0	3	1	3	4	2	1	3	6	3			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr5:75967776G>T	ENST00000274364.6	+	24	3333	c.3036G>T	c.(3034-3036)gtG>gtT	p.V1012V	IQGAP2_ENST00000502745.1_Silent_p.V508V|IQGAP2_ENST00000379730.3_Silent_p.V514V|IQGAP2_ENST00000396234.3_Silent_p.V508V	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	1012	Ras-GAP.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		AGGCTTGGGTGAACCAACTAG	0.433													T	75967776	G	T	75967776	2	4	669	1	0	0	0	0	0	0	0	1	7873	1277	45	4		4	IQGAP2	5	75967776	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	7118335	75967776	104947484	11	52912											
SNAP91	9892	broad.mit.edu	37	chr6	84366496	84366496	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtaagttaataacaccatcaTtgtagcaagcaaaaagtttg	17	11	7	6	0	1	0	1	0	0	0	1	0	1	0	1	0	3	6	1	0	7	6			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr6:84366496T>C	ENST00000428679.2	-	7	1228	c.635A>G	c.(634-636)aAt>aGt	p.N212S	SNAP91_ENST00000369694.2_Missense_Mutation_p.N212S|SNAP91_ENST00000437520.1_Missense_Mutation_p.N212S|SNAP91_ENST00000520302.1_Missense_Mutation_p.N212S|SNAP91_ENST00000439399.2_Missense_Mutation_p.N212S|SNAP91_ENST00000521743.1_Missense_Mutation_p.N212S|SNAP91_ENST00000195649.6_Missense_Mutation_p.N212S|SNAP91_ENST00000520213.1_Missense_Mutation_p.N212S|SNAP91_ENST00000521485.1_Missense_Mutation_p.N212S			O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	212					clathrin coat assembly	clathrin coat|coated pit|plasma membrane	1-phosphatidylinositol binding|clathrin binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		AACACCATCATTGTAGCAAGC	0.383													C	84366496	T	C	84366496	3	2	669	1	0	0	0	0	1	0	0	0	14927	1493	52	3	2176	3	SNAP91	6	84366496	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		84366496	86748571	12	52913											
DLC1	10395	broad.mit.edu	37	chr8	13357011	13357011	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttcattgcaaagctccagGcttttacttatagagtcagt	11	15	7	8	0	2	1	2	0	0	1	3	1	3	1	1	1	3	3	1	1	4	6			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr8:13357011G>A	ENST00000276297.4	-	2	979	c.570C>T	c.(568-570)agC>agT	p.S190S	DLC1_ENST00000316609.5_Silent_p.S190S|DLC1_ENST00000511869.1_Silent_p.S190S	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	190					actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AAAGCTCCAGGCTTTTACTTA	0.383													A	13357011	G	A	13357011	2	1	669	1	0	0	0	0	0	0	0	1	4589	1194	42	2		2	DLC1	8	13357011	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		13357011	133007011	13	52914											
CEL	1056	broad.mit.edu	37	chr9	135946995	135946995	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgactccggggcccccccCgtgacccccacgggtgactc	4	5	13	19	3	0	3	0	3	0	0	2	3	1	3	7	4	0	0	7	4	0	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr9:135946995C>T	ENST00000372080.4	+	11	2131	c.2115C>T	c.(2113-2115)ccC>ccT	p.P705P	CEL_ENST00000351304.7_Silent_p.P636P	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	702	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GGGCCCCCCCCGTGACCCCCA	0.816													T	135946995	C	T	135946995	2	4	669	1	0	0	0	0	0	0	0	1	3239	639	23	1		1	CEL	9	135946995	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		135946995	5266436	14	52915											
CCDC6	8030	broad.mit.edu	37	chr10	61564190	61564190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgctcaccaggtgatatagGcctgcttgaactcggagaag	11	9	12	9	1	1	3	1	2	0	1	2	4	1	3	2	3	3	2	2	3	4	3			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr10:61564190G>A	ENST00000263102.6	-	7	1324	c.1093C>T	c.(1093-1095)Cct>Tct	p.P365S		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	365						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		GGTGATATAGGCCTGCTTGAA	0.458			T	RET	NSCLC								A	61564190	G	A	61564190	3	1	669	1	0	0	0	0	1	0	0	0	2858	1203	42	2	343	2	CCDC6	10	61564190	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		61564190	73970557	15	52916											
IRF7	3665	broad.mit.edu	37	chr11	615146	615146	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccttgcgcgcgaagtgcTtccagggcacgcggaaacag	8	6	15	12	5	0	0	0	0	0	0	2	2	2	1	2	3	3	2	2	3	2	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:615146T>G	ENST00000397566.1	-	1	582	c.173A>C	c.(172-174)aAg>aCg	p.K58T	IRF7_ENST00000330243.5_Missense_Mutation_p.K58T|IRF7_ENST00000397562.3_5'UTR|IRF7_ENST00000348655.6_Missense_Mutation_p.K45T|IRF7_ENST00000525445.1_5'UTR|IRF7_ENST00000397570.1_Missense_Mutation_p.K45T|IRF7_ENST00000397574.2_Missense_Mutation_p.K45T	NM_004031.2	NP_004022.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	45					interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of interferon-alpha production|positive regulation of transcription from RNA polymerase II promoter|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGCGAAGTGCTTCCAGGGCAC	0.697													G	615146	T	G	615146	3	3	669	1	0	0	0	0	1	0	0	0	7893	1609	56	5	1413	5	IRF7	11	615146	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		615146	134391370	16	52917											
ARFIP2	23647	broad.mit.edu	37	chr11	6501609	6501609	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcgccgttcccgtggatagGgatctccattgtggctgcct	4	13	12	12	3	1	0	0	0	1	0	4	2	2	2	4	3	1	2	4	3	1	4			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:6501609G>T	ENST00000254584.2	-	2	126	c.43C>A	c.(43-45)Cct>Act	p.P15T	ARFIP2_ENST00000423813.2_Intron|ARFIP2_ENST00000525235.1_Missense_Mutation_p.P15T|ARFIP2_ENST00000445086.2_Intron|ARFIP2_ENST00000396777.3_Missense_Mutation_p.P15T	NM_012402.3	NP_036534.1	P53365	ARFP2_HUMAN	ADP-ribosylation factor interacting protein 2	15					actin cytoskeleton organization|cellular component movement|lamellipodium assembly|ruffle organization|small GTPase mediated signal transduction	cell cortex|plasma membrane|ruffle	GTP binding|GTP-dependent protein binding|Rac GTPase binding			endometrium(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(2)	15		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;3.41e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)		CCGTGGATAGGGATCTCCATT	0.517													T	6501609	G	T	6501609	3	4	669	1	0	0	0	0	1	0	0	0	858	1232	43	4	1010	4	ARFIP2	11	6501609	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	5886463	6501609	128504907	17	52918											
OR4C16	219428	broad.mit.edu	37	chr11	55339695	55339695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgtttgttatttttttgcGtctctacttgggaacactgt	6	20	9	6	1	1	0	0	0	1	0	2	1	1	1	0	1	3	2	0	1	3	7			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr11:55339695G>A	ENST00000314634.3	+	1	92	c.92G>A	c.(91-93)cGt>cAt	p.R31H		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R31H(2)|p.R31L(1)		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)				ATTTTTTTGCGTCTCTACTTG	0.368													A	55339695	G	A	55339695	3	1	669	1	0	0	0	0	1	0	0	0	11125	1145	40	1	94	1	OR4C16	11	55339695	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	48838086	55339695	79666821	18	52919											
SLC7A1	6541	broad.mit.edu	37	chr13	30091751	30091751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacaattagcccagagattTtggaaggctccatgtttttg	10	14	9	8	0	1	1	1	0	0	1	2	3	2	2	2	2	1	2	2	2	3	5			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr13:30091751T>C	ENST00000380752.5	-	10	1855	c.1469A>G	c.(1468-1470)aAa>aGa	p.K490R	SLC7A1_ENST00000473577.1_5'UTR	NM_003045.4	NP_003036.1	P30825	CTR1_HUMAN	solute carrier family 7 (cationic amino acid transporter, y+ system), member 1	490					cellular nitrogen compound metabolic process|ion transport	integral to plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|prostate(1)|stomach(1)|urinary_tract(2)	24		Lung SC(185;0.0257)|Breast(139;0.238)		all cancers(112;0.0148)|OV - Ovarian serous cystadenocarcinoma(117;0.0554)|Epithelial(112;0.0875)|GBM - Glioblastoma multiforme(144;0.179)	L-Arginine(DB00125)|L-Lysine(DB00123)|L-Ornithine(DB00129)	CCCAGAGATTTTGGAAGGCTC	0.473													C	30091751	T	C	30091751	3	2	669	1	0	0	0	0	1	0	0	0	14786	1841	64	3	436	3	SLC7A1	13	30091751	Missense_Mutation	SNP	T	TCGA-QH-A6CY-01A-11D-A32B-08		30091751	85078127	19	52920											
TOX4	9878	broad.mit.edu	37	chr14	21961060	21961062	+	In_Frame_Del	DEL	GCT	GCT	-																															cagtgttgcaggcagcagcaGctgctgctgctgctgcttct																										TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr14:21961060_21961062delGCT	ENST00000405508.1	+	8	1561_1563	c.1285_1287delGCT	c.(1285-1287)gctdel	p.A434del	TOX4_ENST00000262709.3_In_Frame_Del_p.A434del|TOX4_ENST00000448790.2_In_Frame_Del_p.A411del			O94842	TOX4_HUMAN	TOX high mobility group box family member 4	434	Gln/Pro-rich.|Poly-Ala.					chromatin|nucleus|PTW/PP1 phosphatase complex	DNA binding|protein binding	p.A429A(1)		large_intestine(8)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(95;0.000465)		Epithelial(56;6.61e-06)|all cancers(55;5.15e-05)	GBM - Glioblastoma multiforme(265;0.0149)		GGCAGCAGCAGCTGCTGCTGCTG	0.581													-	21961062	GCT	-	21961060	7	5	669	1	0	1	0	1	0	0	0	0	16481	971	34	0	1311	0	TOX4	14	21961060	In_Frame_Del	DEL	GCT	TCGA-QH-A6CY-01A-11D-A32B-08		21961060	85388480	20	52921											
PARP16	54956	broad.mit.edu	37	chr15	65563325	65563325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctttgaggataaaatccagCtcaccaggtcccaggcccgt	10	8	9	14	1	1	1	1	1	0	0	3	2	3	2	5	3	1	1	5	3	2	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr15:65563325C>T	ENST00000261888.6	-	2	705	c.260G>A	c.(259-261)aGc>aAc	p.S87N	PARP16_ENST00000558873.1_5'UTR|PARP16_ENST00000444347.2_Intron	NM_017851.4	NP_060321.3	Q8N5Y8	PAR16_HUMAN	poly (ADP-ribose) polymerase family, member 16	87	PARP catalytic.					integral to membrane	NAD+ ADP-ribosyltransferase activity			kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)	9						TAAAATCCAGCTCACCAGGTC	0.532													T	65563325	C	T	65563325	3	4	669	1	0	0	0	0	1	0	0	0	11536	797	28	2	731	2	PARP16	15	65563325	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		65563325	36968067	21	52922											
IRF8	3394	broad.mit.edu	37	chr16	85954816	85954816	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccgccgccagaccaggtcttCcggatgtttccagatatttg	7	11	10	13	3	1	2	0	0	1	2	3	3	3	3	6	2	0	1	6	2	1	4			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr16:85954816C>T	ENST00000268638.5	+	9	1631	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	IRF8_ENST00000562492.1_Silent_p.F199F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	403					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				ACCAGGTCTTCCGGATGTTTC	0.587													T	85954816	C	T	85954816	2	4	669	1	0	0	0	0	0	0	0	1	7894	854	30	2		2	IRF8	16	85954816	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		85954816	4399937	22	52923											
ZNF778	197320	broad.mit.edu	37	chr16	89293578	89293578	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcctttaggtacactgcCtaccttactggtcgcgtgca	8	11	10	12	2	0	0	0	0	0	0	1	0	0	0	3	3	5	2	3	3	5	5			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr16:89293578C>T	ENST00000433976.2	+	6	1130	c.798C>T	c.(796-798)gcC>gcT	p.A266A	RP11-46C24.6_ENST00000563182.1_RNA|ZNF778_ENST00000306502.6_Silent_p.A224A	NM_001201407.1|NM_182531.3	NP_001188336.1|NP_872337.2	Q96MU6	ZN778_HUMAN	zinc finger protein 778	266					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(4)|lung(11)|prostate(2)|skin(2)	24				BRCA - Breast invasive adenocarcinoma(80;0.0269)		GGTACACTGCCTACCTTACTG	0.527													T	89293578	C	T	89293578	2	4	669	1	0	0	0	0	0	0	0	1	18250	668	24	2		2	ZNF778	16	89293578	Silent	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	3338762	89293578	1061175	23	52924											
MED9	55090	broad.mit.edu	37	chr17	17394705	17394707	+	In_Frame_Del	DEL	CAG	CAG	-																															gcatccacctgagccccgaaCagcagcagcagcagctgcag																										TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:17394705_17394707delCAG	ENST00000268711.3	+	2	393_395	c.337_339delCAG	c.(337-339)cagdel	p.Q117del		NM_018019.2	NP_060489.1	Q9NWA0	MED9_HUMAN	mediator complex subunit 9	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		protein binding			cervix(1)|endometrium(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						GAGCCCCGAACAGCAGCAGCAGC	0.581													-	17394707	CAG	-	17394705	7	5	669	1	0	1	0	1	0	0	0	0	9529	479	17	0	343	0	MED9	17	17394705	In_Frame_Del	DEL	CAG	TCGA-QH-A6CY-01A-11D-A32B-08		17394705	63800505	24	52925											
KRT28	162605	broad.mit.edu	37	chr17	38950240	38950240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatctgagcctggatctgcGccagctgcgtacagtagttg	7	10	13	11	3	2	1	0	1	2	0	2	3	2	2	2	1	5	4	2	1	2	3	rs150448547		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:38950240G>A	ENST00000306658.7	-	6	1102	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V		NM_181535.3	NP_853513.2	Q7Z3Y7	K1C28_HUMAN	keratin 28	346	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CTGGATCTGCGCCAGCTGCGT	0.577													A	38950240	G	A	38950240	3	1	669	1	0	0	0	0	1	0	0	0	8523	1087	38	1	369	1	KRT28	17	38950240	Missense_Mutation	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	21555535	38950240	42244970	25	52926											
ABCC3	8714	broad.mit.edu	37	chr17	48755185	48755185	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atctactcccacttttcggaGacagtgactggtgccagtgt	8	12	10	11	1	1	2	0	1	1	1	3	3	2	2	2	2	2	0	2	2	1	3			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:48755185G>A	ENST00000285238.8	+	24	3539	c.3459G>A	c.(3457-3459)gaG>gaA	p.E1153E		NM_003786.3	NP_003777.2	O15438	MRP3_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 3	1153	ABC transmembrane type-1 2.				bile acid metabolic process	integral to plasma membrane|membrane fraction	ATP binding|bile acid-exporting ATPase activity|organic anion transmembrane transporter activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33			BRCA - Breast invasive adenocarcinoma(22;3.05e-09)		Glibenclamide(DB01016)	ACTTTTCGGAGACAGTGACTG	0.547													A	48755185	G	A	48755185	2	1	669	1	0	0	0	0	0	0	0	1	54	933	33	2		2	ABCC3	17	48755185	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08	9804945	48755185	32440025	26	52927											
ITGB4	3691	broad.mit.edu	37	chr17	73725516	73725516	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagacagctgtgtgcaCggtgggcactgggaagggtg	7	7	18	9	1	0	1	0	0	0	1	0	2	0	2	1	4	3	4	1	4	1	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr17:73725516C>T	ENST00000200181.3	+	7	924	c.737C>T	c.(736-738)aCg>aTg	p.T246M	ITGB4_ENST00000450894.3_Splice_Site_p.T246M|ITGB4_ENST00000584558.1_3'UTR|ITGB4_ENST00000339591.3_Splice_Site_p.T246M|ITGB4_ENST00000579662.1_Splice_Site_p.T246M|ITGB4_ENST00000449880.2_Splice_Site_p.T246M	NM_000213.3	NP_000204.3	P16144	ITB4_HUMAN	integrin, beta 4	246	VWFA.				cell communication|cell motility|cell-matrix adhesion|hemidesmosome assembly|integrin-mediated signaling pathway|multicellular organismal development|response to wounding	cell leading edge|cell surface|hemidesmosome|integrin complex	protein binding|receptor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|liver(1)|lung(25)|skin(1)|urinary_tract(1)	43	all_cancers(13;1.5e-07)		all cancers(21;8.32e-07)|Epithelial(20;1.92e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GCTGTGTGCACGGTGGGCACT	0.637													T	73725516	C	T	73725516	5	4	669	1	0	0	0	0	0	0	1	0	7955	550	19	1	759	1	ITGB4	17	73725516	Splice_Site	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08	24970331	73725516	7469694	27	52928											
DSG4	147409	broad.mit.edu	37	chr18	28992950	28992950	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcatggaaactttagatccaAaatttaggactcttgctgag	13	12	9	7	0	1	2	0	1	1	1	2	4	2	4	1	2	2	2	1	2	5	5			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr18:28992950A>G	ENST00000359747.4	+	15	2601	c.2572A>G	c.(2572-2574)Aaa>Gaa	p.K858E	RP11-534N16.1_ENST00000581856.1_RNA|DSG4_ENST00000308128.4_Missense_Mutation_p.K839E|RP11-534N16.1_ENST00000578477.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	839					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			TTTAGATCCAAAATTTAGGAC	0.448													G	28992950	A	G	28992950	3	3	669	1	0	0	0	0	1	0	0	0	4818	15	1	3	2698	3	DSG4	18	28992950	Missense_Mutation	SNP	A	TCGA-QH-A6CY-01A-11D-A32B-08		28992950	49084298	28	52929											
CIC	23152	broad.mit.edu	37	chr19	42799050	42799050	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtctgcagttgaagatcCgtgaggtgcgccagaagatc	9	11	13	8	2	1	5	0	2	1	3	3	5	2	5	2	1	2	2	2	1	2	2			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr19:42799050C>A	ENST00000572681.2	+	21	7320	c.7252C>A	c.(7252-7254)Cgt>Agt	p.R2418S	CIC_ENST00000160740.3_Missense_Mutation_p.R1510S|CIC_ENST00000575354.2_Missense_Mutation_p.R1512S			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GTTGAAGATCCGTGAGGTGCG	0.632			"Mis, F, S"		oligodendroglioma								A	42799050	C	A	42799050	3	1	669	1	0	0	0	0	1	0	0	0	3454	652	23	4	4612	4	CIC	19	42799050	Missense_Mutation	SNP	C	TCGA-QH-A6CY-01A-11D-A32B-08		42799050	16329933	29	52930											
PSG7	5676	broad.mit.edu	37	chr19	43440068	43440069	+	RNA	DEL	AC	AC	-																															acacacacacacacacacaaAcacacacacacacatataaa																								rs72310923		TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr19:43440068_43440069delAC	ENST00000446844.3	-	0	154				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				acacacacaaacacacacacac	0.495													-	43440069	AC	-	43440068	6	5	669	0	1	1	0	1	0	0	0	0	12745	58	2	0		0	PSG7	19	43440068	RNA	DEL	AC	TCGA-QH-A6CY-01A-11D-A32B-08	641018	43440068	15688915	30	52931											
ZFP64	55734	broad.mit.edu	37	chr20	50701174	50701174	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctgtcccgaggcaccGctttccggtgggaaggtgac	6	8	15	12	3	0	2	0	2	0	0	2	4	2	3	3	4	1	3	3	4	1	1			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chr20:50701174G>A	ENST00000361387.2	-	9	1920	c.1860C>T	c.(1858-1860)agC>agT	p.S620S	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.S401S	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	465					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCGAGGCACCGCTTTCCGGTG	0.597													A	50701174	G	A	50701174	2	1	669	1	0	0	0	0	0	0	0	1	17753	1078	38	1		1	ZFP64	20	50701174	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		50701174	12324346	31	52932											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-QH-A6CY-01A-11D-A32B-08	TCGA-QH-A6CY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e810c032-3bcd-4baf-9e72-58ef00fb0ac7	27e7dbae-bfb7-4634-98cd-9f4211d864d6	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	669	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-QH-A6CY-01A-11D-A32B-08		150156360	5114200	32	52933											
CDKN2C	1031	broad.mit.edu	37	chr1	51436140	51436140	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataatgtaaacgtcaatgcaCaaaatggatttggaaggact	17	10	9	5	1	1	0	1	0	0	0	1	3	1	3	0	3	2	2	0	3	7	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:51436140C>T	ENST00000262662.1	+	3	2134	c.100C>T	c.(100-102)Caa>Taa	p.Q34*	CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.Q34*|CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.Q34*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	34					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGTCAATGCACAAAATGGATT	0.483			D		"glioma, MM"								T	51436140	C	T	51436140	4	4	670	1	0	0	0	0	0	1	0	0	3195	479	17	2	102	2	CDKN2C	1	51436140	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		51436140	197814481	1	52934											
FUBP1	8880	broad.mit.edu	37	chr1	78428499	78428499	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgagcatagtctatctgttGtggagtgccacgaattgtaa	10	12	11	8	2	2	0	0	0	2	0	2	3	2	1	2	1	2	3	2	1	4	5			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:78428499G>A	ENST00000370767.1	-	14	1387	c.1300C>T	c.(1300-1302)Caa>Taa	p.Q434*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.Q455*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.Q434*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	434	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTATCTGTTGTGGAGTGCCA	0.368			"F, N"		oligodendroglioma								A	78428499	G	A	78428499	4	1	670	1	0	0	0	0	0	1	0	0	6144	1386	48	2	662	2	FUBP1	1	78428499	Nonsense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	26992359	78428499	170822122	2	52935											
LAMC2	3918	broad.mit.edu	37	chr1	183201823	183201823	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtctccagttggccaaggTgaggagccaagagaacagct	11	7	14	9	0	1	2	0	1	1	1	2	4	1	3	3	4	3	2	3	4	3	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr1:183201823T>C	ENST00000264144.4	+	14	2116	c.2051T>C	c.(2050-2052)gTg>gCg	p.V684A	LAMC2_ENST00000493293.1_Missense_Mutation_p.V684A	NM_005562.2	NP_005553.2	Q13753	LAMC2_HUMAN	laminin, gamma 2	684	Domain II and I.				cell adhesion|epidermis development|hemidesmosome assembly		heparin binding			breast(2)|endometrium(6)|kidney(8)|large_intestine(11)|lung(18)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55						TTGGCCAAGGTGAGGAGCCAA	0.527													C	183201823	T	C	183201823	3	2	670	1	0	0	0	0	1	0	0	0	8674	1696	59	3	2105	3	LAMC2	1	183201823	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	104773324	183201823	66048798	3	52936											
ZNF638	27332	broad.mit.edu	37	chr2	71655742	71655742	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagaaaaagctgttgtgacaGaaccagcaaaaggtgaagag	18	5	12	6	0	0	5	0	2	0	3	0	5	0	5	1	1	3	3	1	1	6	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655742G>C	ENST00000409544.1	+	25	6241	c.5611G>C	c.(5611-5613)Gaa>Caa	p.E1871Q	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1871Q|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.E811Q	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1871					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						TGTTGTGACAGAACCAGCAAA	0.398													C	71655742	G	C	71655742	3	2	670	1	0	0	0	0	1	0	0	0	18156	943	33	4	5705	4	ZNF638	2	71655742	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		71655742	171543631	4	52937			1	82		2	2	38	N	G_A	5.856387e-05
ZNF638	27332	broad.mit.edu	37	chr2	71655779	71655779	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggccttccagatgagtgAaggtaaagcaggattgttgg	12	9	15	5	0	0	4	0	2	0	2	1	5	1	5	2	4	1	3	2	4	3	4			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:71655779A>C	ENST00000409544.1	+	25	6278	c.5648A>C	c.(5647-5649)gAa>gCa	p.E1883A	ZNF638_ENST00000264447.4_Missense_Mutation_p.E1883A|ZNF638_ENST00000355812.3_3'UTR|ZNF638_ENST00000409407.1_Missense_Mutation_p.E823A	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1883					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						CAGATGAGTGAAGGTAAAGCA	0.398													C	71655779	A	C	71655779	3	2	670	1	0	0	0	0	1	0	0	0	18156	246	9	5	5742	5	ZNF638	2	71655779	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	37	71655779	171543594	5	52938			1	82		2	2	38	N	G_A	5.856387e-05
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	670	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	137457333	209113112	34086261	6	52939											
NEK10	152110	broad.mit.edu	37	chr3	27244027	27244027	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagccttctccccatacggCtcactcttcagtacctcggg	6	11	7	17	2	5	0	3	0	2	0	7	0	5	0	4	2	3	2	4	2	2	4			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:27244027C>T	ENST00000429845.2	-	25	2474	c.2112G>A	c.(2110-2112)gaG>gaA	p.E704E	NEK10_ENST00000383771.4_Silent_p.E16E|NEK10_ENST00000383770.3_Silent_p.E16E|NEK10_ENST00000357467.2_Silent_p.E101E|NEK10_ENST00000295720.6_Silent_p.E16E			Q6ZWH5	NEK10_HUMAN	NIMA-related kinase 10	704	Protein kinase.						ATP binding|metal ion binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(5)|pancreas(1)|prostate(1)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCCCATACGGCTCACTCTTCA	0.473													T	27244027	C	T	27244027	2	4	670	1	0	0	0	0	0	0	0	1	10398	812	28	2		2	NEK10	3	27244027	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		27244027	170778403	7	52940											
DNAH1	25981	broad.mit.edu	37	chr3	52397073	52397073	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgatcactgagatctccctCtattcctttggctttaatga	9	16	6	10	0	3	3	1	3	2	1	5	4	4	3	2	1	0	1	2	1	2	5			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:52397073C>G	ENST00000420323.2	+	32	5418	c.5157C>G	c.(5155-5157)ctC>ctG	p.L1719L		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	1719	AAA 1 (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)		AGATCTCCCTCTATTCCTTTG	0.537													G	52397073	C	G	52397073	2	3	670	1	0	0	0	0	0	0	0	1	4636	900	32	4		4	DNAH1	3	52397073	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	25153046	52397073	145625357	8	52941											
PLA1A	51365	broad.mit.edu	37	chr3	119336993	119336993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgctggacgctgtctGgattgctttaacccttttct	4	18	8	11	1	2	0	0	0	2	0	3	2	3	2	2	2	3	3	2	2	1	7			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr3:119336993G>A	ENST00000273371.4	+	7	954	c.882G>A	c.(880-882)ctG>ctA	p.L294L	PLA1A_ENST00000488919.1_Silent_p.L121L|PLA1A_ENST00000494440.1_Silent_p.L278L|PLA1A_ENST00000495992.1_Silent_p.L278L	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	294					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GACGCTGTCTGGATTGCTTTA	0.522													A	119336993	G	A	119336993	2	1	670	1	0	0	0	0	0	0	0	1	12065	1335	47	2		2	PLA1A	3	119336993	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	66939920	119336993	78685437	9	52942											
CLRN2	645104	broad.mit.edu	37	chr4	17528505	17528505	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatttcacgacctgacggaaCgaatcgccaactttcaggag	13	8	9	11	4	2	1	2	1	0	0	3	5	2	3	2	2	2	0	2	2	4	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:17528505C>T	ENST00000511148.2	+	3	601	c.499C>T	c.(499-501)Cga>Tga	p.R167*		NM_001079827.2	NP_001073296.1	A0PK11	CLRN2_HUMAN	clarin 2	167						integral to membrane				breast(1)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|upper_aerodigestive_tract(1)	15						CCTGACGGAACGAATCGCCAA	0.552													T	17528505	C	T	17528505	4	4	670	1	0	0	0	0	0	1	0	0	3589	528	19	1	509	1	CLRN2	4	17528505	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		17528505	173625771	10	52943											
PDS5A	23244	broad.mit.edu	37	chr4	39922020	39922020	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggactgtttatttaagttCtgaaaaataataaaaacatg	19	13	6	3	0	1	1	0	1	1	0	1	2	1	2	0	1	1	2	0	1	9	7			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr4:39922020C>G	ENST00000303538.8	-	7	1194		c.e7-1		PDS5A_ENST00000503396.1_Splice_Site	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)						cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TATTTAAGTTCTGAAAAATAA	0.274													G	39922020	C	G	39922020	5	3	670	1	0	0	0	0	0	0	1	0	11767	927	32	4	3500	4	PDS5A	4	39922020	Splice_Site	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	22393515	39922020	151232256	11	52944											
SLC25A46	91137	broad.mit.edu	37	chr5	110074990	110074990	+	Frame_Shift_Del	DEL	G	G	-																															cggcagccgcaacctgcactGgggcgagaagagcccgccct																										TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:110074990delG	ENST00000355943.3	+	1	296	c.170delG	c.(169-171)tggfs	p.W57fs	SLC25A46_ENST00000509442.2_Intron|SLC25A46_ENST00000513807.1_Intron|SLC25A46_ENST00000447245.2_Frame_Shift_Del_p.W57fs	NM_138773.1	NP_620128.1	Q96AG3	S2546_HUMAN	solute carrier family 25, member 46	57					transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)	10		all_cancers(142;0.00203)|all_epithelial(76;4.52e-05)|Prostate(80;0.0115)|Colorectal(57;0.0676)|Ovarian(225;0.156)		OV - Ovarian serous cystadenocarcinoma(64;2.58e-09)|Epithelial(69;7.29e-08)|all cancers(49;9.35e-06)|COAD - Colon adenocarcinoma(37;0.211)		AACCTGCACTGGGGCGAGAAG	0.692													-	110074990	G	-	110074990	7	5	670	1	0	1	0	1	0	0	0	0	14605	1357	47	0	172	0	SLC25A46	5	110074990	Frame_Shift_Del	DEL	G	TCGA-QH-A6CZ-01A-11D-A32B-08		110074990	70840270	12	52945											
PRR16	51334	broad.mit.edu	37	chr5	120022396	120022396	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaggaagtcaaccactacaAccgtgtgatgtatgccatta	13	10	9	9	1	1	2	1	2	0	0	1	3	1	3	3	1	4	1	3	1	6	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:120022396A>T	ENST00000379551.2	+	3	1195	c.838A>T	c.(838-840)Acc>Tcc	p.T280S	PRR16_ENST00000505123.1_Missense_Mutation_p.T233S|PRR16_ENST00000446965.1_Missense_Mutation_p.T233S|PRR16_ENST00000407149.2_Missense_Mutation_p.T303S	NM_016644.1	NP_057728.1	Q569H4	PRR16_HUMAN	proline rich 16	303	Pro-rich.									endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	28		all_cancers(142;0.0464)|Prostate(80;0.00446)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.000126)|Epithelial(69;0.000331)|all cancers(49;0.00169)		AACCACTACAACCGTGTGATG	0.388													T	120022396	A	T	120022396	3	4	670	1	0	0	0	0	1	0	0	0	12675	43	2	5	844	5	PRR16	5	120022396	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	9947406	120022396	60892864	13	52946											
CATSPER3	347732	broad.mit.edu	37	chr5	134345082	134345082	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actccatcagaaagtttgagCgagagctgatgttggagcag	12	9	13	7	1	1	4	1	2	0	2	2	6	2	5	1	1	3	4	1	1	1	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:134345082C>T	ENST00000282611.6	+	6	924	c.838C>T	c.(838-840)Cga>Tga	p.R280*		NM_178019.2	NP_821138.1	Q86XQ3	CTSR3_HUMAN	cation channel, sperm associated 3	280					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	calcium channel activity|voltage-gated ion channel activity			NS(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|stomach(1)|urinary_tract(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			AAAGTTTGAGCGAGAGCTGAT	0.542													T	134345082	C	T	134345082	4	4	670	1	0	0	0	0	0	1	0	0	2715	760	27	1	860	1	CATSPER3	5	134345082	Nonsense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	14322686	134345082	46570178	14	52947											
PCDHA2	56146	broad.mit.edu	37	chr5	140176747	140176747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaccgagggtgcgcgcgCgccaggaaagcccacgctgg	8	2	15	16	6	0	0	0	0	0	0	0	2	0	1	4	3	2	1	4	3	1	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140176747C>T	ENST00000526136.1	+	1	2198	c.2198C>T	c.(2197-2199)gCg>gTg	p.A733V	PCDHA2_ENST00000520672.2_Missense_Mutation_p.A733V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A733V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGCGCGCGCGCCAGGAAAG	0.682													T	140176747	C	T	140176747	3	4	670	1	0	0	0	0	1	0	0	0	11600	768	27	1	2200	1	PCDHA2	5	140176747	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	5831665	140176747	40738513	15	52948											
PCDHGC5	56097	broad.mit.edu	37	chr5	140869683	140869683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgaggcagtgcggaacctCtttggcctagaccctagcag	8	9	12	12	1	2	2	0	1	2	1	2	3	2	3	3	3	3	2	3	3	3	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr5:140869683C>T	ENST00000252087.1	+	1	876	c.876C>T	c.(874-876)ctC>ctT	p.L292L	PCDHGA12_ENST00000252085.3_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGC4_ENST00000306593.1_Intron|PCDHGC3_ENST00000308177.3_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018929.2|NM_032403.2|NM_032407.1	NP_061752.1|NP_115779.1|NP_115783.1	Q9Y5F6	PCDGM_HUMAN		292	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(4)|lung(10)|ovary(4)|prostate(1)|urinary_tract(2)	35			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGAACCTCTTTGGCCTAG	0.537													T	140869683	C	T	140869683	2	4	670	1	0	0	0	0	0	0	0	1	11647	900	32	2		2	PCDHGC5	5	140869683	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	692936	140869683	40045577	16	52949											
DSP	1832	broad.mit.edu	37	chr6	7572217	7572217	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcaggcagatagagcactgCgagggcaggatgactctcaa	12	5	14	10	2	1	3	1	1	1	2	2	5	1	4	0	3	2	4	0	3	2	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:7572217C>T	ENST00000379802.3	+	15	2387	c.2046C>T	c.(2044-2046)tgC>tgT	p.C682C	DSP_ENST00000418664.2_Silent_p.C682C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	682	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TAGAGCACTGCGAGGGCAGGA	0.443													T	7572217	C	T	7572217	2	4	670	1	0	0	0	0	0	0	0	1	4820	776	27	1		1	DSP	6	7572217	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		7572217	163542850	17	52950											
TMEM217	221468	broad.mit.edu	37	chr6	37186212	37186212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atccacctacctctgcctctCaaagtactgggattccaggt	9	11	7	14	0	2	0	1	0	2	0	5	1	4	1	5	2	3	1	5	2	3	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:37186212C>T	ENST00000336655.2	-	2	634	c.595G>A	c.(595-597)Gag>Aag	p.E199K	TMEM217_ENST00000497775.1_Intron|TMEM217_ENST00000356757.2_Missense_Mutation_p.E199K	NM_145316.3	NP_660359.2	Q8N7C4	TM217_HUMAN	transmembrane protein 217	199						integral to membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(1)	9						ctctgcctctcaaagtactgg	0.473													T	37186212	C	T	37186212	3	4	670	1	0	0	0	0	1	0	0	0	16240	835	29	2	106	2	TMEM217	6	37186212	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	29613995	37186212	133928855	18	52951											
OOEP	441161	broad.mit.edu	37	chr6	74104567	74104567	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacgctactcttacgacGtcacggtcaggtggtgcaga	8	9	13	11	4	3	1	2	0	1	1	3	2	3	1	0	4	3	3	0	4	2	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:74104567G>A	ENST00000370363.1	-	0	249				DDX43_ENST00000370336.4_5'UTR			A6NGQ2	OOEP_HUMAN	oocyte expressed protein							cytoplasm				large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	8						CTCTTACGACGTCACGGTCAG	0.657													A	74104567	G	A	74104567	1	1	670	1	0	0	0	0	0	0	0	0	10946	1160	40	1		1	OOEP	6	74104567	Translation_Start_Site	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	36918355	74104567	97010500	19	52952											
THBS2	7058	broad.mit.edu	37	chr6	169634881	169634881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctcctgcacatcccccacGcaggccttccctccgtactg	5	8	7	21	3	0	0	0	0	0	0	4	0	4	0	6	1	2	4	6	1	1	2	rs139787473		TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr6:169634881G>A	ENST00000366787.3	-	11	1848	c.1599C>T	c.(1597-1599)tgC>tgT	p.C533C	XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	533	TSP type-1 3.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity	p.C533*(1)		NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CATCCCCCACGCAGGCCTTCC	0.662													A	169634881	G	A	169634881	2	1	670	1	0	0	0	0	0	0	0	1	15954	1079	38	1		1	THBS2	6	169634881	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	95530314	169634881	1480186	20	52953											
TMEM184A	202915	broad.mit.edu	37	chr7	1586662	1586663	+	In_Frame_Ins	INS	-	-	GCC																															ctcccgccggagccgccgctINSggggtgggtgccgggcctgg																								rs3837151	by1000genomes	TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:1586662_1586663insGCC	ENST00000297477.5	-	9	1483_1484	c.1167_1168insGGC	c.(1165-1170)cccagc>cccGGCagc	p.389_390PS>PGS		NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	389						integral to membrane				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GAGCCGCCGCTGGGGTGGGTGC	0.703													GCC	1586663	-	GCC	1586662	7	5	670	1	0	1	1	0	0	0	0	0	16204	1580	55	0	77	0	TMEM184A	7	1586662	In_Frame_Ins	INS	-	TCGA-QH-A6CZ-01A-11D-A32B-08		1586662	157552001	21	52954											
ABCA13	154664	broad.mit.edu	37	chr7	48682920	48682920	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtcaaagtttggctctgTaaggaagcaaatcaacattg	15	10	9	7	0	3	0	2	0	1	0	3	1	3	1	0	2	2	4	0	2	5	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:48682920T>C	ENST00000435803.1	+	60	14898	c.14874T>C	c.(14872-14874)tgT>tgC	p.C4958C	ABCA13_ENST00000544596.1_Silent_p.C688C	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4958					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						TTTGGCTCTGTAAGGAAGCAA	0.318													C	48682920	T	C	48682920	2	2	670	1	0	0	0	0	0	0	0	1	31	1644	57	3		3	ABCA13	7	48682920	Silent	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	47096258	48682920	110455743	22	52955											
SRRT	51593	broad.mit.edu	37	chr7	100484956	100484956	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacagtgctggagtggcagaAgacttttgaggagaagctca	12	8	14	7	0	1	4	1	1	0	3	1	6	1	5	0	3	2	3	0	3	2	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:100484956A>C	ENST00000388793.4	+	16	2208	c.1988A>C	c.(1987-1989)aAg>aCg	p.K663T	SRRT_ENST00000432932.1_Missense_Mutation_p.K663T|SRRT_ENST00000457580.2_Missense_Mutation_p.K664T|SRRT_ENST00000347433.4_Missense_Mutation_p.K664T	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN	serrate RNA effector molecule homolog (Arabidopsis)	664					cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						GAGTGGCAGAAGACTTTTGAG	0.587													C	100484956	A	C	100484956	3	2	670	1	0	0	0	0	1	0	0	0	15268	72	3	5	2049	5	SRRT	7	100484956	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	51802036	100484956	58653707	23	52956											
TRPV6	55503	broad.mit.edu	37	chr7	142573252	142573252	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctgtaagagggtgttgTcccgggggctcgtgcggtta	4	12	17	8	3	1	1	0	0	1	1	3	1	2	1	1	4	2	5	1	4	2	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr7:142573252T>C	ENST00000359396.3	-	8	1336	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G		NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6	364					regulation of calcium ion-dependent exocytosis	integral to plasma membrane	calcium channel activity|calmodulin binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GAGGGTGTTGTCCCGGGGGCT	0.562													C	142573252	T	C	142573252	3	2	670	1	0	0	0	0	1	0	0	0	16701	1667	58	3	1118	3	TRPV6	7	142573252	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	42088296	142573252	16565411	24	52957											
RP1L1	94137	broad.mit.edu	37	chr8	10464926	10464926	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcagcctccggggtctctaCgccttctggctctggctggg	2	12	13	14	2	4	0	1	0	3	0	6	0	5	0	3	5	2	2	3	5	1	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr8:10464926C>T	ENST00000382483.3	-	4	6905	c.6682G>A	c.(6682-6684)Gta>Ata	p.V2228I		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	2228					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GGGGTCTCTACGCCTTCTGGC	0.607													T	10464926	C	T	10464926	3	4	670	1	0	0	0	0	1	0	0	0	13624	536	19	1	524	1	RP1L1	8	10464926	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		10464926	135899096	25	52958											
PRKACG	5568	broad.mit.edu	37	chr9	71628437	71628437	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaagtgcggcccttcacgCgcttggcgaaaccgaagtcc	8	7	11	15	5	1	0	1	0	0	0	3	2	3	0	4	2	2	1	4	2	3	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr9:71628437C>T	ENST00000377276.2	-	1	602	c.572G>A	c.(571-573)cGc>cAc	p.R191H		NM_002732.3	NP_002723.2	P22612	KAPCG_HUMAN	protein kinase, cAMP-dependent, catalytic, gamma	191	Protein kinase.				activation of phospholipase C activity|activation of protein kinase A activity|blood coagulation|cellular response to glucagon stimulus|energy reserve metabolic process|gluconeogenesis|intracellular protein kinase cascade|male gonad development|nerve growth factor receptor signaling pathway|regulation of insulin secretion|spermatogenesis|transmembrane transport|triglyceride catabolic process|water transport	cytosol|nucleoplasm	ATP binding|cAMP-dependent protein kinase activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22						GCCCTTCACGCGCTTGGCGAA	0.627													T	71628437	C	T	71628437	3	4	670	1	0	0	0	0	1	0	0	0	12585	768	27	1	487	1	PRKACG	9	71628437	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		71628437	69584994	26	52959											
OR4C16	219428	broad.mit.edu	37	chr11	55339921	55339921	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcatcccatgtctttggCtgcctggagatcttcatcct	5	17	7	12	0	4	1	2	0	2	1	6	2	6	1	3	2	1	1	3	2	0	4			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr11:55339921C>A	ENST00000314634.3	+	1	318	c.318C>A	c.(316-318)ggC>ggA	p.G106G		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	106					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)				ATGTCTTTGGCTGCCTGGAGA	0.488													A	55339921	C	A	55339921	2	1	670	1	0	0	0	0	0	0	0	1	11125	784	28	4		4	OR4C16	11	55339921	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		55339921	79666595	27	52960											
ACVR1B	91	broad.mit.edu	37	chr12	52380606	52380606	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttttgctattgcagatacAtggcccctgaagtacttgat	9	15	9	8	0	0	3	0	2	0	1	0	3	0	3	2	1	4	4	2	1	4	7			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:52380606A>G	ENST00000257963.4	+	7	1218	c.1141A>G	c.(1141-1143)Atg>Gtg	p.M381V	ACVR1B_ENST00000415850.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000541224.1_Missense_Mutation_p.M422V|ACVR1B_ENST00000426655.2_Missense_Mutation_p.M381V|ACVR1B_ENST00000563121.1_Intron|ACVR1B_ENST00000542485.1_Missense_Mutation_p.M329V	NM_004302.4|NM_020328.3	NP_004293.1|NP_064733.3	P36896	ACV1B_HUMAN	activin A receptor, type IB	381	Protein kinase.				G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|peptidyl-threonine phosphorylation|positive regulation of activin receptor signaling pathway|positive regulation of erythrocyte differentiation|protein autophosphorylation|transmembrane receptor protein serine/threonine kinase signaling pathway	cell surface	activin receptor activity, type I|ATP binding|metal ion binding|SMAD binding|transforming growth factor beta receptor activity|ubiquitin protein ligase binding			breast(5)|endometrium(4)|kidney(5)|large_intestine(12)|lung(10)|ovary(1)|pancreas(6)|prostate(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.104)	Adenosine triphosphate(DB00171)	TTGCAGATACATGGCCCCTGA	0.398													G	52380606	A	G	52380606	3	3	670	1	0	0	0	0	1	0	0	0	221	217	8	3	1294	3	ACVR1B	12	52380606	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08		52380606	81471289	28	52961											
STAB2	55576	broad.mit.edu	37	chr12	104140466	104140466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacctggattatgaaggtgaCggaatcacatgcacaggtaa	15	8	11	7	1	1	2	1	2	0	0	1	4	1	4	1	4	2	2	1	4	5	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr12:104140466C>T	ENST00000388887.2	+	58	6432	c.6228C>T	c.(6226-6228)gaC>gaT	p.D2076D	RP11-341G23.4_ENST00000551299.1_RNA	NM_017564.9	NP_060034.9	Q8WWQ8	STAB2_HUMAN	stabilin 2	2076	EGF-like 15.				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						ATGAAGGTGACGGAATCACAT	0.512													T	104140466	C	T	104140466	2	4	670	1	0	0	0	0	0	0	0	1	15334	535	19	1		1	STAB2	12	104140466	Silent	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	51759860	104140466	29711429	29	52962											
SLC28A1	9154	broad.mit.edu	37	chr15	85461769	85461769	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcaggttctgcccatcatTgtctttttcagctgtgtcat	5	16	9	11	1	5	0	3	0	2	0	5	0	5	0	1	2	2	3	1	2	0	4			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr15:85461769T>G	ENST00000394573.1	+	10	1012	c.810T>G	c.(808-810)atT>atG	p.I270M	SLC28A1_ENST00000537703.1_Missense_Mutation_p.I192M|SLC28A1_ENST00000538177.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000286749.3_Missense_Mutation_p.I270M|SLC28A1_ENST00000537216.1_Missense_Mutation_p.I270M|SLC28A1_ENST00000537624.1_Missense_Mutation_p.I270M	NM_004213.3	NP_004204.3	O00337	S28A1_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 1	270					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)	41			BRCA - Breast invasive adenocarcinoma(143;0.0587)			TGCCCATCATTGTCTTTTTCA	0.602													G	85461769	T	G	85461769	3	3	670	1	0	0	0	0	1	0	0	0	14625	1800	63	5	911	5	SLC28A1	15	85461769	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08		85461769	17069623	30	52963											
KIAA0895L	653319	broad.mit.edu	37	chr16	67214474	67214474	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	actggtaggcgggctgggggGtgcctgatcatacgcctgag	6	8	18	9	2	1	2	1	2	0	0	1	2	1	2	2	6	2	2	2	6	2	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr16:67214474G>T	ENST00000290881.7	-	3	966	c.40C>A	c.(40-42)Ccc>Acc	p.P14T	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.P14T|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.P14T			Q68EN5	K895L_HUMAN	KIAA0895-like	14	Pro-rich.							p.S16fs*13(1)		breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GGGCTGGGGGGTGCCTGATCA	0.647													T	67214474	G	T	67214474	3	4	670	1	0	0	0	0	1	0	0	0	8256	1261	44	4	1399	4	KIAA0895L	16	67214474	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		67214474	23140279	31	52964											
WDR81	124997	broad.mit.edu	37	chr17	1640948	1640949	+	Frame_Shift_Ins	INS	-	-	G																															cgccacctcctgctgggctcINSagacaacggggttatccgcc																										TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:1640948_1640949insG	ENST00000409644.1	+	10	5795_5796	c.5795_5796insG	c.(5794-5799)tcagacfs	p.D1933fs	WDR81_ENST00000437219.2_Frame_Shift_Ins_p.D730fs|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000419248.1_Frame_Shift_Ins_p.D706fs|WDR81_ENST00000309182.5_Frame_Shift_Ins_p.D882fs|WDR81_ENST00000446363.1_Frame_Shift_Ins_p.D572fs|WDR81_ENST00000545662.1_Frame_Shift_Ins_p.D564fs	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	706								p.S881S(2)|p.S1932S(2)|p.S729S(2)		cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CTGCTGGGCTCAGACAACGGGG	0.653													G	1640949	-	G	1640948	7	5	670	1	0	1	1	0	0	0	0	0	17432	838	29	0	5895	0	WDR81	17	1640948	Frame_Shift_Ins	INS	-	TCGA-QH-A6CZ-01A-11D-A32B-08		1640948	79554262	32	52965											
C17orf85	55421	broad.mit.edu	37	chr17	3717702	3717702	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcacatcagaagagggcTctctccgaacgacggggtta	11	8	12	10	3	2	2	1	0	1	2	4	4	3	2	1	3	2	3	1	3	4	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:3717702T>C	ENST00000158149.3	-	13	1596	c.701A>G	c.(700-702)gAg>gGg	p.E234G	C17orf85_ENST00000389005.4_Missense_Mutation_p.E514G			Q53F19	CQ085_HUMAN	chromosome 17 open reading frame 85	514							nucleotide binding			endometrium(2)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (3;0.0725)		AGAAGAGGGCTCTCTCCGAAC	0.473													C	3717702	T	C	3717702	3	2	670	1	0	0	0	0	1	0	0	0	1905	1551	54	3	329	3	C17orf85	17	3717702	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	2076754	3717702	77477508	33	52966											
TP53	7157	broad.mit.edu	37	chr17	7578505	7578505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatcaacccacagctgcacaGggcaggtcttggccagttgg	10	7	12	12	0	2	0	1	0	1	0	2	0	2	0	2	4	3	4	2	4	2	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:7578505G>A	ENST00000420246.2	-	5	557	c.425C>T	c.(424-426)cCt>cTt	p.P142L	TP53_ENST00000359597.4_Missense_Mutation_p.P142L|TP53_ENST00000455263.2_Missense_Mutation_p.P142L|TP53_ENST00000269305.4_Missense_Mutation_p.P142L|TP53_ENST00000445888.2_Missense_Mutation_p.P142L|TP53_ENST00000413465.2_Missense_Mutation_p.P142L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	142	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in a sporadic cancer; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.P142L(8)|p.0?(8)|p.A138_P142delAKTCP(4)|p.P142H(3)|p.P142F(2)|p.L137_W146del10(1)|p.A6_P10delAKTCP(1)|p.N131fs*27(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C141fs*5(1)|p.P142del(1)|p.P142_Q144delPVQ(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)		CAGCTGCACAGGGCAGGTCTT	0.587		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)			A	7578505	G	A	7578505	3	1	670	1	0	0	0	0	1	0	0	0	16482	1000	35	2	873	2	TP53	17	7578505	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	3860803	7578505	73616705	34	52967											
FAM83G	644815	broad.mit.edu	37	chr17	18874815	18874815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagggactcggatgctcctCggtggccctgccatcggtca	6	8	14	13	3	1	0	1	0	0	0	5	3	2	2	3	5	2	1	3	5	1	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:18874815C>T	ENST00000388995.6	-	6	2552	c.2329G>A	c.(2329-2331)Gag>Aag	p.E777K	FAM83G_ENST00000345041.4_Missense_Mutation_p.E777K|FAM83G_ENST00000585154.2_Missense_Mutation_p.E777K|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	777										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						GGATGCTCCTCGGTGGCCCTG	0.637													T	18874815	C	T	18874815	3	4	670	1	0	0	0	0	1	0	0	0	5689	893	31	1	146	1	FAM83G	17	18874815	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	11296310	18874815	62320395	35	52968											
EVI2B	2124	broad.mit.edu	37	chr17	29631826	29631826	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtgtaagtgaaatgattgAtgtacgttttgtggatattt	10	17	13	1	1	0	3	0	3	0	0	0	4	0	4	0	2	1	3	0	2	4	7			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr17:29631826A>G	ENST00000330927.4	-	2	956	c.802T>C	c.(802-804)Tca>Cca	p.S268P	EVI2B_ENST00000544462.1_Missense_Mutation_p.S283P|EVI2B_ENST00000577894.1_Missense_Mutation_p.S268P|NF1_ENST00000358273.4_Intron|NF1_ENST00000356175.3_Intron	NM_006495.3	NP_006486.3	P34910	EVI2B_HUMAN	ecotropic viral integration site 2B	268						cytoplasm|integral to plasma membrane		p.0?(8)|p.?(3)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|urinary_tract(1)	12		all_cancers(10;6.97e-11)|all_epithelial(10;0.0051)|all_hematologic(16;0.0149)|Breast(31;0.0155)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|all_lung(9;0.0468)|Lung NSC(157;0.094)		UCEC - Uterine corpus endometrioid carcinoma (4;6.64e-05)|all cancers(4;6.88e-13)|Epithelial(4;8.95e-12)|OV - Ovarian serous cystadenocarcinoma(4;1.01e-11)|GBM - Glioblastoma multiforme(4;0.184)		GAAATGATTGATGTACGTTTT	0.363													G	29631826	A	G	29631826	3	3	670	1	0	0	0	0	1	0	0	0	5329	333	12	3	548	3	EVI2B	17	29631826	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	10757011	29631826	51563384	36	52969											
ASXL3	80816	broad.mit.edu	37	chr18	31324832	31324832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtgaaatctgaacttcacGaagcagacaagggctttaga	14	9	10	8	1	2	4	1	2	1	2	2	5	2	4	0	1	2	2	0	1	5	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:31324832G>A	ENST00000269197.5	+	12	5020	c.5020G>A	c.(5020-5022)Gaa>Aaa	p.E1674K		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	1674					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						TGAACTTCACGAAGCAGACAA	0.478													A	31324832	G	A	31324832	3	1	670	1	0	0	0	0	1	0	0	0	1073	1059	37	1	5066	1	ASXL3	18	31324832	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		31324832	46752416	37	52970											
MYO5B	4645	broad.mit.edu	37	chr18	47500793	47500793	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttgttgatgtgctccaCaatccagccgaacaactggg	9	9	11	12	1	0	1	0	1	0	0	2	2	2	1	4	2	4	2	4	2	3	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr18:47500793C>A	ENST00000285039.7	-	10	1548	c.1249G>T	c.(1249-1251)Gtg>Ttg	p.V417L		NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	417	Myosin head-like.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ATGTGCTCCACAATCCAGCCG	0.587													A	47500793	C	A	47500793	3	1	670	1	0	0	0	0	1	0	0	0	10155	478	17	4	4421	4	MYO5B	18	47500793	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	16175961	47500793	30576455	38	52971											
ARRDC5	645432	broad.mit.edu	37	chr19	4891574	4891574	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actttctcctcagcctccacGaacaaggggttctaggagga	10	9	10	12	1	3	0	1	0	2	0	5	3	4	2	3	4	2	1	3	4	3	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:4891574G>A	ENST00000381781.2	-	3	512	c.513C>T	c.(511-513)ttC>ttT	p.F171F		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	171					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		CAGCCTCCACGAACAAGGGGT	0.552													A	4891574	G	A	4891574	2	1	670	1	0	0	0	0	0	0	0	1	991	1049	37	1		1	ARRDC5	19	4891574	Silent	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08		4891574	54237409	39	52972											
CPAMD8	27151	broad.mit.edu	37	chr19	17081798	17081798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagaggccaccgtcctgccGgtggttcaggctcactcggt	5	9	14	13	3	2	1	2	0	0	1	4	1	3	1	4	5	1	3	4	5	1	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:17081798G>A	ENST00000443236.1	-	18	2288	c.2257C>T	c.(2257-2259)Cgg>Tgg	p.R753W	CPAMD8_ENST00000388925.4_Missense_Mutation_p.P495L	NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	706						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						CCGTCCTGCCGGTGGTTCAGG	0.632													A	17081798	G	A	17081798	3	1	670	1	0	0	0	0	1	0	0	0	3826	1115	39	1	3641	1	CPAMD8	19	17081798	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	12190224	17081798	42047185	40	52973											
SLC5A5	6528	broad.mit.edu	37	chr19	18001748	18001748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtggtgggacctcgcaCggcagacagcatcagtggcc	7	8	15	11	2	1	1	1	0	0	1	2	2	1	2	2	4	1	4	2	4	0	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:18001748C>T	ENST00000222248.3	+	14	2052	c.1705C>T	c.(1705-1707)Cgg>Tgg	p.R569W		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	569					cellular nitrogen compound metabolic process|cellular response to cAMP|cellular response to gonadotropin stimulus|hormone biosynthetic process	integral to membrane|nucleus|plasma membrane	iodide transmembrane transporter activity|sodium:iodide symporter activity	p.R569W(1)		NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						GGACCTCGCACGGCAGACAGC	0.602													T	18001748	C	T	18001748	3	4	670	1	0	0	0	0	1	0	0	0	14762	527	19	1	1759	1	SLC5A5	19	18001748	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08	919950	18001748	41127235	41	52974											
GMIP	51291	broad.mit.edu	37	chr19	19751149	19751149	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttcagcgatcttcatggTgctcttagcaaactccagct	9	12	8	12	1	4	0	2	0	2	0	5	1	5	0	1	1	6	4	1	1	2	3			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:19751149T>G	ENST00000203556.4	-	6	522	c.385A>C	c.(385-387)Acc>Ccc	p.T129P	GMIP_ENST00000587238.1_Missense_Mutation_p.T129P|GMIP_ENST00000445806.2_Missense_Mutation_p.T129P	NM_016573.2	NP_057657.2	Q9P107	GMIP_HUMAN	GEM interacting protein	129					negative regulation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	metal ion binding|protein binding|Rho GTPase activator activity			breast(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						ATCTTCATGGTGCTCTTAGCA	0.607													G	19751149	T	G	19751149	3	3	670	1	0	0	0	0	1	0	0	0	6547	1696	59	5	2591	5	GMIP	19	19751149	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08	1749401	19751149	39377834	42	52975											
CAPN12	147968	broad.mit.edu	37	chr19	39224801	39224801	+	Frame_Shift_Del	DEL	C	C	-																															cctgccactccaggaggtagCcccagagctgctggaagtgg																										TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:39224801delC	ENST00000328867.4	-	17	2167	c.1859delG	c.(1858-1860)ggcfs	p.G620fs	CAPN12_ENST00000601953.1_Frame_Shift_Del_p.G471fs	NM_144691.3	NP_653292.2	Q6ZSI9	CAN12_HUMAN	calpain 12	620	Domain IV.|EF-hand.				proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(60;2.87e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CAGGAGGTAGCCCCAGAGCTG	0.572													-	39224801	C	-	39224801	7	5	670	1	0	1	0	1	0	0	0	0	2651	739	26	0	320	0	CAPN12	19	39224801	Frame_Shift_Del	DEL	C	TCGA-QH-A6CZ-01A-11D-A32B-08	19473652	39224801	19904182	43	52976											
CIC	23152	broad.mit.edu	37	chr19	42791794	42791794	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcgtcatcccaaccaggacaAccggaccgtcagcaagatcc	12	4	9	16	3	2	1	2	0	0	1	4	3	4	3	5	2	3	1	5	2	3	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42791794A>T	ENST00000572681.2	+	6	3475	c.3407A>T	c.(3406-3408)aAc>aTc	p.N1136I	CIC_ENST00000575354.2_Missense_Mutation_p.N227I|CIC_ENST00000160740.3_Missense_Mutation_p.N227I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	227	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AACCAGGACAACCGGACCGTC	0.622			"Mis, F, S"		oligodendroglioma								T	42791794	A	T	42791794	3	4	670	1	0	0	0	0	1	0	0	0	3454	43	2	5	698	5	CIC	19	42791794	Missense_Mutation	SNP	A	TCGA-QH-A6CZ-01A-11D-A32B-08	3566993	42791794	16337189	44	52977											
CIC	23152	broad.mit.edu	37	chr19	42795609	42795609	+	Frame_Shift_Del	DEL	C	C	-																															agtctgtaccctccgccccaCcccccaaaggtgagacctgg																										TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:42795609delC	ENST00000572681.2	+	11	5484	c.5416delC	c.(5416-5418)cccfs	p.P1807fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.P898fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.P898fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	898					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CTCCGCCCCACCCCCCAAAGG	0.607			"Mis, F, S"		oligodendroglioma								-	42795609	C	-	42795609	7	5	670	1	0	1	0	1	0	0	0	0	3454	507	18	0	2727	0	CIC	19	42795609	Frame_Shift_Del	DEL	C	TCGA-QH-A6CZ-01A-11D-A32B-08	3815	42795609	16333374	45	52978											
IRF3	3661	broad.mit.edu	37	chr19	50165556	50165556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaagacttggcggccccGgtagaaggctgtcacctcga	8	7	14	12	3	1	2	1	0	0	2	2	4	1	3	3	5	0	2	3	5	3	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr19:50165556G>A	ENST00000597198.1	-	6	1012	c.631C>T	c.(631-633)Cgg>Tgg	p.R211W	IRF3_ENST00000600911.1_Missense_Mutation_p.R211W|IRF3_ENST00000309877.7_Missense_Mutation_p.R211W|IRF3_ENST00000596765.1_Intron|IRF3_ENST00000377135.4_Intron|IRF3_ENST00000598808.1_Missense_Mutation_p.R65W|IRF3_ENST00000596822.1_Intron|IRF3_ENST00000600022.1_Intron|IRF3_ENST00000593922.1_Missense_Mutation_p.R65W|IRF3_ENST00000601291.1_Missense_Mutation_p.R211W|IRF3_ENST00000599144.1_Missense_Mutation_p.R65W|IRF3_ENST00000599223.1_Intron|IRF3_ENST00000377139.3_Missense_Mutation_p.R211W			Q14653	IRF3_HUMAN	interferon regulatory factor 3	211	Involved in HERC5 binding.				interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|response to virus|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|endosome membrane|nucleoplasm|plasma membrane	DNA binding|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			breast(1)|large_intestine(2)|lung(4)|ovary(2)|stomach(1)	10		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.02)		TGGCGGCCCCGGTAGAAGGCT	0.667													A	50165556	G	A	50165556	3	1	670	1	0	0	0	0	1	0	0	0	7889	1115	39	1	664	1	IRF3	19	50165556	Missense_Mutation	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	7369947	50165556	8963427	46	52979											
BRWD1	54014	broad.mit.edu	37	chr21	40604415	40604415	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctgctggagtcatccTccgcaaattctaccaagggg	10	9	10	12	1	3	0	1	0	2	0	5	1	5	1	3	3	3	3	3	3	4	2			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:40604415T>C	ENST00000342449.3	-	24	2854	c.2776A>G	c.(2776-2778)Agg>Ggg	p.R926G	BRWD1_ENST00000333229.2_Missense_Mutation_p.R926G|BRWD1_ENST00000380800.3_Missense_Mutation_p.R926G	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	926					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				GGAGTCATCCTCCGCAAATTC	0.398													C	40604415	T	C	40604415	3	2	670	1	0	0	0	0	1	0	0	0	1534	1550	54	3	4501	3	BRWD1	21	40604415	Missense_Mutation	SNP	T	TCGA-QH-A6CZ-01A-11D-A32B-08		40604415	7525480	47	52980											
COL6A1	1291	broad.mit.edu	37	chr21	47412311	47412311	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacggtgcccccggggagcGggtgagtggggcaggggcag	5	4	23	9	3	0	2	0	2	0	0	0	3	0	3	2	8	2	2	2	8	0	0			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chr21:47412311G>A	ENST00000361866.3	+	18	1385	c.1271G>A	c.(1270-1272)cGg>cAg	p.R424Q		NM_001848.2	NP_001839.2	P12109	CO6A1_HUMAN	collagen, type VI, alpha 1	424	Triple-helical region.				axon guidance|cell adhesion|protein heterotrimerization	collagen type VI|protein complex	platelet-derived growth factor binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	33	all_hematologic(128;0.24)			Colorectal(79;0.0265)|READ - Rectum adenocarcinoma(84;0.0649)	Palifermin(DB00039)	CCCGGGGAGCGGGTGAGTGGG	0.657													A	47412311	G	A	47412311	5	1	670	1	0	0	0	0	0	0	1	0	3730	1130	39	1	1341	1	COL6A1	21	47412311	Splice_Site	SNP	G	TCGA-QH-A6CZ-01A-11D-A32B-08	6807896	47412311	717584	48	52981											
CSF2RA	1438	broad.mit.edu	37	chrX	1413280	1413280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacgacgcactgcctcgtaCggtggaaacagcccaggacc	11	4	11	15	4	0	0	0	0	0	0	1	3	0	2	3	3	4	2	3	3	2	1			TCGA-QH-A6CZ-01A-11D-A32B-08	TCGA-QH-A6CZ-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64ccbb42-ab3e-4c72-81bf-a73da84d234f	ce3b3c31-5843-453e-8226-a166a9cef382	g.chrX:1413280C>T	ENST00000381524.3	+	8	892	c.706C>T	c.(706-708)Cgg>Tgg	p.R236W	CSF2RA_ENST00000361536.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000381500.1_Missense_Mutation_p.R236W|CSF2RA_ENST00000417535.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000355805.2_Intron|CSF2RA_ENST00000381529.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000355432.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000432318.2_Missense_Mutation_p.R236W|CSF2RA_ENST00000501036.2_Missense_Mutation_p.R103W|CSF2RA_ENST00000381509.3_Missense_Mutation_p.R236W|CSF2RA_ENST00000498153.1_3'UTR			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	236						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CTGCCTCGTACGGTGGAAACA	0.592													T	1413280	C	T	1413280	3	4	670	1	0	0	0	0	1	0	0	0	3967	527	19	1	728	1	CSF2RA	23	1413280	Missense_Mutation	SNP	C	TCGA-QH-A6CZ-01A-11D-A32B-08		1413280	153857280	49	52982											
PHGDH	26227	broad.mit.edu	37	chr1	120277978	120277978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtgcgtgtggtgaactgtgCccgtggagggatcgtggacg	5	9	20	7	4	0	1	0	1	0	0	1	4	0	4	1	5	3	0	1	5	1	0			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:120277978C>T	ENST00000369407.3	+	6	2109	c.602C>T	c.(601-603)gCc>gTc	p.A201V	PHGDH_ENST00000369409.4_Missense_Mutation_p.A235V			O43175	SERA_HUMAN	phosphoglycerate dehydrogenase	235					brain development|L-serine biosynthetic process		electron carrier activity|NAD binding|phosphoglycerate dehydrogenase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	18	all_cancers(5;1.18e-09)|all_epithelial(5;2.16e-10)|Melanoma(3;1.93e-05)|all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0347)		Lung(183;0.0111)|LUSC - Lung squamous cell carcinoma(189;0.0593)	NADH(DB00157)	GTGAACTGTGCCCGTGGAGGG	0.617													T	120277978	C	T	120277978	3	4	671	1	0	0	0	0	1	0	0	0	11918	739	26	2	730	2	PHGDH	1	120277978	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		120277978	128972643	1	52983											
HMCN1	83872	broad.mit.edu	37	chr1	186136027	186136027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcttatcgctgtgtggtccGttgtggaagtggctttcgaa	6	15	13	7	3	1	0	0	0	1	0	4	2	2	1	1	3	0	3	1	3	3	3	rs150494959	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr1:186136027G>A	ENST00000271588.4	+	100	15756	c.15527G>A	c.(15526-15528)cGt>cAt	p.R5176H	HMCN1_ENST00000367492.2_Missense_Mutation_p.R5176H	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5176	EGF-like 2; calcium-binding (Potential).				response to stimulus|visual perception	basement membrane	calcium ion binding	p.R5176H(1)		NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTGTGGTCCGTTGTGGAAGT	0.463													A	186136027	G	A	186136027	3	1	671	1	0	0	0	0	1	0	0	0	7275	1145	40	1	15925	1	HMCN1	1	186136027	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	65858049	186136027	63114594	2	52984											
MYO3B	140469	broad.mit.edu	37	chr2	171262117	171262117	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaaggagtggaactgtgcTttggcattcagcattatgct	10	12	11	8	0	1	0	1	0	0	0	1	2	1	2	1	3	4	4	1	3	3	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:171262117T>C	ENST00000334231.6	+	21	2521	c.2521T>C	c.(2521-2523)Ttt>Ctt	p.F841L	MYO3B_ENST00000408978.4_Missense_Mutation_p.F832L|MYO3B_ENST00000602629.1_3'UTR|MYO3B_ENST00000409044.3_Missense_Mutation_p.F832L			Q8WXR4	MYO3B_HUMAN	myosin IIIB	832	Myosin head-like.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						GGAACTGTGCTTTGGCATTCA	0.418													C	171262117	T	C	171262117	3	2	671	1	0	0	0	0	1	0	0	0	10153	1609	56	3	2576	3	MYO3B	2	171262117	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		171262117	71937256	3	52985											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	671	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	37850995	209113112	34086261	4	52986											
BTD	686	broad.mit.edu	37	chr3	15686469	15686469	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaattttgtcaggcgatcCgtactgtgagaaggatgctc	12	11	11	7	2	1	1	1	1	0	1	3	4	2	2	1	2	2	2	1	2	4	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr3:15686469C>T	ENST00000383778.4	+	4	1404	c.1046C>T	c.(1045-1047)cCg>cTg	p.P349L	BTD_ENST00000437172.1_Missense_Mutation_p.P371L|BTD_ENST00000303498.5_Missense_Mutation_p.P369L|BTD_ENST00000449107.1_Missense_Mutation_p.P371L	NM_001281725.1	NP_001268654.1	P43251	BTD_HUMAN	biotinidase	369	CN hydrolase.				central nervous system development|epidermis development|nitrogen compound metabolic process	extracellular space	biotin carboxylase activity|biotinidase activity			breast(2)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)|skin(1)	18						TCAGGCGATCCGTACTGTGAG	0.468													T	15686469	C	T	15686469	3	4	671	1	0	0	0	0	1	0	0	0	1560	652	23	1	1120	1	BTD	3	15686469	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		15686469	182335961	5	52987											
CCDC110	256309	broad.mit.edu	37	chr4	186380647	186380647	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttaaatctgtaatatttttgCcagtgatgggaatttcttta	11	19	7	4	0	2	1	0	1	2	0	2	2	2	2	1	1	1	1	1	1	6	8			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:186380647C>T	ENST00000307588.3	-	6	1169	c.1094G>A	c.(1093-1095)gGc>gAc	p.G365D	CCDC110_ENST00000393540.3_Missense_Mutation_p.G328D|CCDC110_ENST00000510617.1_Missense_Mutation_p.G365D	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	365						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		AATATTTTTGCCAGTGATGGG	0.323													T	186380647	C	T	186380647	3	4	671	1	0	0	0	0	1	0	0	0	2773	739	26	2	1415	2	CCDC110	4	186380647	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		186380647	4773629	6	52988											
TRIML1	339976	broad.mit.edu	37	chr4	189060901	189060901	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggaggaccttggagggcccGcatttccagtcaaacgagcg	9	7	14	11	3	1	0	1	0	0	0	2	4	2	3	3	4	2	1	3	4	1	2	rs147444946	byFrequency	TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr4:189060901G>A	ENST00000332517.3	+	1	329	c.189G>A	c.(187-189)ccG>ccA	p.P63P		NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	63					multicellular organismal development		ligase activity|zinc ion binding			NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		TGGAGGGCCCGCATTTCCAGT	0.602													A	189060901	G	A	189060901	2	1	671	1	0	0	0	0	0	0	0	1	16651	1074	38	1		1	TRIML1	4	189060901	Silent	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	2680254	189060901	2093375	7	52989											
MAP3K5	4217	broad.mit.edu	37	chr6	136904865	136904865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgttcccattttagtttcGgttcttcagccccctgtgaa	5	17	8	11	1	2	1	1	1	1	0	4	1	3	1	3	1	1	3	3	1	2	6			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr6:136904865G>A	ENST00000359015.4	-	24	3599	c.3239C>T	c.(3238-3240)cCg>cTg	p.P1080L	MAP3K5_ENST00000463140.1_5'UTR|MAP3K5_ENST00000355845.4_Missense_Mutation_p.P327L	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1080					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TTTTAGTTTCGGTTCTTCAGC	0.453													A	136904865	G	A	136904865	3	1	671	1	0	0	0	0	1	0	0	0	9328	1116	39	1	913	1	MAP3K5	6	136904865	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		136904865	34210202	8	52990											
ZNF716	441234	broad.mit.edu	37	chr7	57522851	57522851	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccccagaatataaagagaaAtgagatggtagccaaacacc	18	5	9	9	0	0	3	0	1	0	3	0	5	0	3	4	1	2	1	4	1	7	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr7:57522851A>G	ENST00000420713.1	+	3	351	c.239A>G	c.(238-240)aAt>aGt	p.N80S		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						ATAAAGAGAAATGAGATGGTA	0.408													G	57522851	A	G	57522851	3	3	671	1	0	0	0	0	1	0	0	0	18220	101	4	3	249	3	ZNF716	7	57522851	Missense_Mutation	SNP	A	TCGA-QH-A6X3-01A-21D-A32B-08		57522851	101615812	9	52991											
ADAM7	8756	broad.mit.edu	37	chr8	24323222	24323222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctattttaggatcattgttTttaccaaggatccatagtac	11	17	6	7	0	2	0	1	0	1	0	3	2	3	2	2	2	2	2	2	2	6	9			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr8:24323222T>C	ENST00000175238.6	+	5	406	c.323T>C	c.(322-324)tTt>tCt	p.F108S	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000519689.1_RNA|ADAM7_ENST00000380789.1_Missense_Mutation_p.F108S|ADAM7_ENST00000441335.2_Missense_Mutation_p.F108S	NM_003817.3	NP_003808.2	Q9H2U9	ADAM7_HUMAN	ADAM metallopeptidase domain 7	108					proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding			NS(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(24)|ovary(1)|skin(15)	64		Prostate(55;0.0181)		Colorectal(74;0.0199)|COAD - Colon adenocarcinoma(73;0.0754)|BRCA - Breast invasive adenocarcinoma(99;0.182)		GATCATTGTTTTTACCAAGGA	0.284													C	24323222	T	C	24323222	3	2	671	1	0	0	0	0	1	0	0	0	251	1841	64	3	341	3	ADAM7	8	24323222	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		24323222	122040800	10	52992											
FAM129B	64855	broad.mit.edu	37	chr9	130294013	130294013	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagagccacgccatactggtCttcatagaactggaggaact	12	8	11	10	1	2	2	1	0	1	2	2	5	2	4	2	3	4	0	2	3	4	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:130294013C>G	ENST00000373312.3	-	2	313	c.100G>C	c.(100-102)Gac>Cac	p.D34H	FAM129B_ENST00000468379.1_5'UTR|FAM129B_ENST00000373314.3_Missense_Mutation_p.D21H	NM_022833.2	NP_073744.2	Q96TA1	NIBL1_HUMAN	family with sequence similarity 129, member B	34							protein binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25						CCATACTGGTCTTCATAGAAC	0.577													G	130294013	C	G	130294013	3	3	671	1	0	0	0	0	1	0	0	0	5482	913	32	4	2192	4	FAM129B	9	130294013	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		130294013	10919418	11	52993											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	671	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-QH-A6X3-01A-21D-A32B-08	9119057	139413070	1800361	12	52994											
PTEN	5728	broad.mit.edu	37	chr10	89624270	89624270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgttagcagaaacaaaaggaGatatcaagaggatggattcg	17	7	12	5	2	1	3	1	0	0	3	2	6	1	5	0	3	2	2	0	3	6	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr10:89624270G>C	ENST00000371953.3	+	1	1401	c.44G>C	c.(43-45)aGa>aCa	p.R15T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	15	Phosphatase tensin-type.		R -> S (in glioma).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(13)|p.R15I(3)|p.R15fs*23(1)|p.R15K(1)|p.R14fs*26(1)|p.N12fs*6(1)|p.R14_D22del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AACAAAAGGAGATATCAAGAG	0.478		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			C	89624270	G	C	89624270	3	2	671	1	0	0	0	0	1	0	0	0	12823	942	33	4	46	4	PTEN	10	89624270	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		89624270	45910477	13	52995											
TRIM3	10612	broad.mit.edu	37	chr11	6486802	6486804	+	In_Frame_Del	DEL	AGA	AGA	-																															cacatcccctcacctctcacAgaaggtgtgcaggcaaggaa																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:6486802_6486804delAGA	ENST00000525074.1	-	2	516_518	c.122_124delTCT	c.(121-126)ttctgt>tgt	p.F41del	TRIM3_ENST00000537602.1_In_Frame_Del_p.F41del|TRIM3_ENST00000536344.1_Intron|TRIM3_ENST00000345851.3_In_Frame_Del_p.F41del|TRIM3_ENST00000359518.3_In_Frame_Del_p.F41del	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	41					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACCTCTCACAGAAGGTGTGCAG	0.596													-	6486804	AGA	-	6486802	7	5	671	1	0	1	0	1	0	0	0	0	16605	188	7	0	2154	0	TRIM3	11	6486802	In_Frame_Del	DEL	AGA	TCGA-QH-A6X3-01A-21D-A32B-08		6486802	128519714	14	52996											
FOLH1	2346	broad.mit.edu	37	chr11	49179513	49179513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catttgtttacctgggcatgCcactgaactctggggaagga	9	11	12	9	0	1	1	0	1	1	0	1	3	1	3	2	4	3	2	2	4	3	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:49179513C>T	ENST00000340334.7	-	15	1846	c.1478G>A	c.(1477-1479)gGc>gAc	p.G493D	FOLH1_ENST00000343844.4_Missense_Mutation_p.G200D|FOLH1_ENST00000533034.1_Missense_Mutation_p.G493D|FOLH1_ENST00000256999.2_Missense_Mutation_p.G508D|FOLH1_ENST00000356696.3_Missense_Mutation_p.G508D	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	508	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	CCTGGGCATGCCACTGAACTC	0.348													T	49179513	C	T	49179513	3	4	671	1	0	0	0	0	1	0	0	0	6028	739	26	2	753	2	FOLH1	11	49179513	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	42692711	49179513	85827003	15	52997											
OR5D14	219436	broad.mit.edu	37	chr11	55563199	55563199	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataatcaagattaaccccaaAtttcacactcctatgtactt	15	13	2	11	0	2	1	2	0	0	1	3	1	3	1	3	0	2	1	3	0	6	6			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:55563199A>G	ENST00000335605.1	+	1	168	c.168A>G	c.(166-168)aaA>aaG	p.K56K		NM_001004735.1	NP_001004735.1	Q8NGL3	OR5DE_HUMAN	olfactory receptor, family 5, subfamily D, member 14	56					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(30)|ovary(2)|prostate(1)|skin(2)|stomach(3)|urinary_tract(1)	48		all_epithelial(135;0.196)				TTAACCCCAAATTTCACACTC	0.388													G	55563199	A	G	55563199	2	3	671	1	0	0	0	0	0	0	0	1	11231	98	4	3		3	OR5D14	11	55563199	Silent	SNP	A	TCGA-QH-A6X3-01A-21D-A32B-08	6383686	55563199	79443317	16	52998											
MYO7A	4647	broad.mit.edu	37	chr11	76903174	76903174	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacgccaaggagcagggcGcccaggagcgcaacgccccc	10	1	14	16	4	0	0	0	0	0	0	0	2	0	2	4	3	4	3	4	3	3	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr11:76903174G>A	ENST00000409709.3	+	31	4275	c.4003G>A	c.(4003-4005)Gcc>Acc	p.A1335T	MYO7A_ENST00000458637.2_Missense_Mutation_p.A1335T|MYO7A_ENST00000409619.2_Missense_Mutation_p.A1324T	NM_000260.3	NP_000251.3	Q13402	MYO7A_HUMAN	myosin VIIA	1335	FERM 1.				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						GGAGCAGGGCGCCCAGGAGCG	0.662											OREG0021258	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	76903174	G	A	76903174	3	1	671	1	0	0	0	0	1	0	0	0	10158	1087	38	1	4155	1	MYO7A	11	76903174	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	21339975	76903174	58103342	17	52999											
KCNA1	3736	broad.mit.edu	37	chr12	5021170	5021170	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccgcatcgacaacaccaCggtcatctacaattccaaca	14	6	4	17	3	2	0	1	0	1	0	4	1	3	0	4	1	3	1	4	1	4	2			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr12:5021170C>T	ENST00000382545.3	+	2	1733	c.626C>T	c.(625-627)aCg>aTg	p.T209M	KCNA1_ENST00000543874.2_Intron	NM_000217.2	NP_000208.2	Q09470	KCNA1_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 1 (episodic ataxia with myokymia)	209					synaptic transmission	juxtaparanode region of axon|voltage-gated potassium channel complex	delayed rectifier potassium channel activity|potassium ion transmembrane transporter activity			NS(1)|breast(3)|cervix(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(23)|ovary(3)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63					Desflurane(DB01189)|Enflurane(DB00228)|Isoflurane(DB00753)|Methoxyflurane(DB01028)|Sevoflurane(DB01236)	GACAACACCACGGTCATCTAC	0.542													T	5021170	C	T	5021170	3	4	671	1	0	0	0	0	1	0	0	0	8059	536	19	1	628	1	KCNA1	12	5021170	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		5021170	128830725	18	53000											
KLHL1	57626	broad.mit.edu	37	chr13	70293517	70293517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctttctacataatccaGtagccgggaacagtgatttg	11	13	8	9	1	1	1	0	1	1	0	2	2	2	2	3	1	4	1	3	1	5	6			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr13:70293517G>T	ENST00000377844.4	-	9	2758	c.1999C>A	c.(1999-2001)Ctg>Atg	p.L667M	KLHL1_ENST00000545028.1_Missense_Mutation_p.L474M	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	667					actin cytoskeleton organization	cytoplasm|cytoskeleton	actin binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		ACATAATCCAGTAGCCGGGAA	0.463													T	70293517	G	T	70293517	3	4	671	1	0	0	0	0	1	0	0	0	8423	1020	36	4	259	4	KLHL1	13	70293517	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		70293517	44876361	19	53001											
POTEG	404785	broad.mit.edu	37	chr14	19553596	19553596	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atgaagacactcaggagcaaGatgggcaagtggtgccgcca	13	5	14	9	1	1	3	1	1	0	2	1	4	1	4	2	3	2	2	2	3	3	0			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr14:19553596G>C	ENST00000409832.3	+	1	232	c.180G>C	c.(178-180)aaG>aaC	p.K60N		NM_001005356.2	NP_001005356.1	Q6S5H5	POTEG_HUMAN	POTE ankyrin domain family, member G	60										cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(31)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	47						TCAGGAGCAAGATGGGCAAGT	0.612													C	19553596	G	C	19553596	3	2	671	1	0	0	0	0	1	0	0	0	12343	933	33	4	182	4	POTEG	14	19553596	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		19553596	87795944	20	53002											
NEDD4	4734	broad.mit.edu	37	chr15	56142778	56142778	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gttgtggtcaataaagaaagGcctcccatttggtgcatgcc	10	11	11	9	0	1	1	1	0	0	1	2	1	2	1	3	3	2	2	3	3	4	3			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:56142778G>A	ENST00000508342.1	-	10	2865	c.2566C>T	c.(2566-2568)Cct>Tct	p.P856S	NEDD4_ENST00000506154.1_Missense_Mutation_p.P840S|NEDD4_ENST00000338963.2_Missense_Mutation_p.P784S|NEDD4_ENST00000435532.3_Missense_Mutation_p.P437S	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	856	Mediates interaction with TNIK (By similarity).|WW 3.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		ATAAAGAAAGGCCTCCCATTT	0.428													A	56142778	G	A	56142778	3	1	671	1	0	0	0	0	1	0	0	0	10386	1203	42	2	1457	2	NEDD4	15	56142778	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		56142778	46388614	21	53003											
RORA	6095	broad.mit.edu	37	chr15	61521357	61521357	+	Frame_Shift_Del	DEL	C	C	-																															cctggagccggcggccgcgtCcgcgccgctgctgcctggct																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr15:61521357delC	ENST00000335670.6	-	1	161	c.61delG	c.(61-63)gacfs	p.D21fs		NM_134261.2	NP_599023.1	P35398	RORA_HUMAN	RAR-related orphan receptor A	0	Modulating.				positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	21						GCGGCCGCGTCCGCGCCGCTG	0.692													-	61521357	C	-	61521357	7	5	671	1	0	1	0	1	0	0	0	0	13619	855	30	0	2034	0	RORA	15	61521357	Frame_Shift_Del	DEL	C	TCGA-QH-A6X3-01A-21D-A32B-08	5378579	61521357	41010035	22	53004											
WWP2	11060	broad.mit.edu	37	chr16	69833165	69833166	+	Frame_Shift_Del	DEL	CT	CT	-																															taggcaccgcatctgtcaacCtctccaacgtcttgaagaac																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr16:69833165_69833166delCT	ENST00000359154.2	+	4	408_409	c.307_308delCT	c.(307-309)ctcfs	p.L103fs	WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000569174.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000448661.1_Frame_Shift_Del_p.L103fs|WWP2_ENST00000356003.2_Frame_Shift_Del_p.L103fs	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	103					entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						ATCTGTCAACCTCTCCAACGTC	0.49											OREG0023909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	69833166	CT	-	69833165	7	5	671	1	0	1	0	1	0	0	0	0	17518	681	24	0	317	0	WWP2	16	69833165	Frame_Shift_Del	DEL	CT	TCGA-QH-A6X3-01A-21D-A32B-08		69833165	20521588	23	53005											
TP53	7157	broad.mit.edu	37	chr17	7579319	7579323	+	Frame_Shift_Del	DEL	GTCAC	GTCAC	-																															cagggcaactgaccgtgcaaGtcacagacttggctgtccca																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:7579319_7579323delGTCAC	ENST00000420246.2	-	4	496_500	c.364_368delGTGAC	c.(364-369)gtgactfs	p.VT122fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.VT122fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.VT122fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.VT122fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	122	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> L (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.0?(8)|p.V122fs*26(5)|p.G59fs*23(3)|p.T123I(1)|p.V73fs*9(1)|p.T123fs*24(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.V122fs*46(1)|p.Y107fs*44(1)|p.V122L(1)|p.P13fs*18(1)|p.S33fs*23(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)		GACCGTGCAAGTCACAGACTTGGCT	0.551		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)			-	7579323	GTCAC	-	7579319	7	5	671	1	0	1	0	1	0	0	0	0	16482	1029	36	0	934	0	TP53	17	7579319	Frame_Shift_Del	DEL	GTCAC	TCGA-QH-A6X3-01A-21D-A32B-08		7579319	73615891	24	53006											
ARHGAP27	201176	broad.mit.edu	37	chr17	43475409	43475409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actcagagccatctcggctcCgtagctggagggacacaagt	10	7	12	12	2	2	1	1	0	1	1	4	3	3	3	2	3	2	3	2	3	2	1			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:43475409C>T	ENST00000532038.1	-	9	1217	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	ARHGAP27_ENST00000376922.2_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000455881.1_Missense_Mutation_p.R242Q|ARHGAP27_ENST00000428638.1_Missense_Mutation_p.R583Q|ARHGAP27_ENST00000532891.2_Missense_Mutation_p.R561Q|ARHGAP27_ENST00000528384.1_Missense_Mutation_p.R215Q|ARHGAP27_ENST00000582826.1_5'UTR|ARHGAP27_ENST00000442348.1_Missense_Mutation_p.R556Q			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	583					positive regulation of Cdc42 GTPase activity|receptor-mediated endocytosis|signal transduction	cytoplasm|membrane	Rac GTPase activator activity|SH3 domain binding			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					ATCTCGGCTCCGTAGCTGGAG	0.592													T	43475409	C	T	43475409	3	4	671	1	0	0	0	0	1	0	0	0	879	652	23	1	953	1	ARHGAP27	17	43475409	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08	35896090	43475409	37719801	25	53007											
TRIM65	201292	broad.mit.edu	37	chr17	73892940	73892940	+	Frame_Shift_Del	DEL	A	A	-																															cccgcagaagttgtggccgcAgggcagcgtcactgggtcct																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr17:73892940delA	ENST00000269383.3	-	1	144	c.79delT	c.(79-81)tgcfs	p.C27fs		NM_001256124.1|NM_173547.3	NP_001243053.1|NP_775818.2	Q6PJ69	TRI65_HUMAN	tripartite motif containing 65	27						intracellular	zinc ion binding			endometrium(1)|kidney(1)|lung(5)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	12			Epithelial(20;7.53e-06)|all cancers(21;9.11e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00092)|LUSC - Lung squamous cell carcinoma(166;0.154)			TTGTGGCCGCAGGGCAGCGTC	0.721													-	73892940	A	-	73892940	7	5	671	1	0	1	0	1	0	0	0	0	16640	188	7	0	1498	0	TRIM65	17	73892940	Frame_Shift_Del	DEL	A	TCGA-QH-A6X3-01A-21D-A32B-08	30417531	73892940	7302270	26	53008											
DLGAP1	9229	broad.mit.edu	37	chr18	3879314	3879314	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acttgacgtcgttgttgctcCgggaggccttcaccgcctgc	4	11	12	14	4	1	1	1	1	0	0	3	2	2	2	4	2	2	3	4	2	0	4			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:3879314C>T	ENST00000315677.3	-	4	1350	c.755G>A	c.(754-756)cGg>cAg	p.R252Q	DLGAP1_ENST00000515196.2_Missense_Mutation_p.R252Q|DLGAP1_ENST00000584874.1_Missense_Mutation_p.R252Q|DLGAP1_ENST00000581527.1_Missense_Mutation_p.R252Q|DLGAP1-AS3_ENST00000577649.1_RNA	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	252					synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GTTGTTGCTCCGGGAGGCCTT	0.657													T	3879314	C	T	3879314	3	4	671	1	0	0	0	0	1	0	0	0	4598	652	23	1	2273	1	DLGAP1	18	3879314	Missense_Mutation	SNP	C	TCGA-QH-A6X3-01A-21D-A32B-08		3879314	74197934	27	53009											
EPB41L3	23136	broad.mit.edu	37	chr18	5398132	5398132	+	Missense_Mutation	SNP	G	G	C																															ccatgagcttttccccagaaGactgcttagtctgagtgaac																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398132G>C	ENST00000341928.2	-	17	2700	c.2360C>G	c.(2359-2361)tCt>tGt	p.S787C	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Missense_Mutation_p.S787C|EPB41L3_ENST00000544123.1_Missense_Mutation_p.S618C|EPB41L3_ENST00000542146.1_Missense_Mutation_p.S92C|EPB41L3_ENST00000427684.2_Missense_Mutation_p.S84C|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	787	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						TTCCCCAGAAGACTGCTTAGT	0.418													C	5398132	G	C	5398132	3	2	671	1	0	0	0	0	1	0	0	0	5195	942	33	4	927	4	EPB41L3	18	5398132	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	1518818	5398132	72679116	28	53010	170	2									
EPB41L3	23136	broad.mit.edu	37	chr18	5398141	5398141	+	Splice_Site	SNP	G	G	C																															tttccccagaagactgcttaGtctgagtgaacaaagagagg																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr18:5398141G>C	ENST00000341928.2	-	17	2691	c.2351C>G	c.(2350-2352)aCt>aGt	p.T784S	EPB41L3_ENST00000400111.3_Intron|EPB41L3_ENST00000542652.2_Intron|EPB41L3_ENST00000342933.3_Splice_Site_p.T784S|EPB41L3_ENST00000544123.1_Splice_Site_p.T615S|EPB41L3_ENST00000542146.1_Splice_Site_p.T89S|EPB41L3_ENST00000427684.2_Splice_Site_p.T81S|EPB41L3_ENST00000540638.2_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	784	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGACTGCTTAGTCTGAGTGAA	0.433													C	5398141	G	C	5398141	5	2	671	1	0	0	0	0	0	0	1	0	5195	1043	36	4	936	4	EPB41L3	18	5398141	Splice_Site	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08	9	5398141	72679107	29	53011	170	2									
LIPI	149998	broad.mit.edu	37	chr21	15537704	15537704	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtggttgcatttaatgaaTtgaattccttaagggttaaa	12	16	10	3	0	0	2	0	2	0	0	1	2	1	2	1	3	1	3	1	3	6	7			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr21:15537704T>A	ENST00000344577.2	-	6	829	c.804A>T	c.(802-804)caA>caT	p.Q268H	LIPI_ENST00000536861.1_Missense_Mutation_p.Q247H	NM_198996.2	NP_945347.1	Q6XZB0	LIPI_HUMAN	lipase, member I	247					lipid catabolic process	extracellular region|extracellular space|membrane|plasma membrane	heparin binding|phospholipase activity			endometrium(1)|kidney(13)|large_intestine(9)|liver(3)|lung(24)|ovary(3)|urinary_tract(1)	54				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.0015)|Colorectal(24;0.00693)|Lung(58;0.166)		ATTTAATGAATTGAATTCCTT	0.299													A	15537704	T	A	15537704	3	1	671	1	0	0	0	0	1	0	0	0	8886	1490	52	5	661	5	LIPI	21	15537704	Missense_Mutation	SNP	T	TCGA-QH-A6X3-01A-21D-A32B-08		15537704	32592191	30	53012											
GNAZ	2781	broad.mit.edu	37	chr22	23438508	23438508	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggggcagaggtcagagcGcaaaaagtggatccactgct	11	5	17	8	1	1	2	1	0	0	2	2	3	2	3	1	5	2	3	1	5	2	0			TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chr22:23438508G>A	ENST00000248996.4	+	2	1292	c.626G>A	c.(625-627)cGc>cAc	p.R209H	RTDR1_ENST00000216036.4_Intron	NM_002073.2	NP_002064.1	P19086	GNAZ_HUMAN	guanine nucleotide binding protein (G protein), alpha z polypeptide	209						endoplasmic reticulum|heterotrimeric G-protein complex|nuclear envelope	G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|metabotropic serotonin receptor binding|receptor signaling protein activity			endometrium(3)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)|skin(5)|urinary_tract(1)	19	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.166)		AGGTCAGAGCGCAAAAAGTGG	0.562													A	23438508	G	A	23438508	3	1	671	1	0	0	0	0	1	0	0	0	6570	1087	38	1	628	1	GNAZ	22	23438508	Missense_Mutation	SNP	G	TCGA-QH-A6X3-01A-21D-A32B-08		23438508	27866058	31	53013											
DGKK	139189	broad.mit.edu	37	chrX	50165596	50165597	+	RNA	DEL	AC	AC	-																															aaagagacattaaaaggtaaAcacacacacacacacacaca																								rs72026364		TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:50165596_50165597delAC	ENST00000376025.2	-	0	816							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TAAAAGGTAAacacacacacac	0.411													-	50165597	AC	-	50165596	6	5	671	0	1	1	0	1	0	0	0	0	4511	58	2	0		0	DGKK	23	50165596	RNA	DEL	AC	TCGA-QH-A6X3-01A-21D-A32B-08		50165596	105104964	32	53014											
ATRX	546	broad.mit.edu	37	chrX	76937611	76937615	+	Frame_Shift_Del	DEL	CTTTT	CTTTT	-																															ttttatctcttatttttttaCttttcttttctccatcagtt																										TCGA-QH-A6X3-01A-21D-A32B-08	TCGA-QH-A6X3-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ec60d9fe-8eeb-4461-b98a-1a1d913e86cb	808dfeb8-ac5b-44c3-8007-fd214fda4ab2	g.chrX:76937611_76937615delCTTTT	ENST00000373344.5	-	9	3347_3351	c.3133_3137delAAAAG	c.(3133-3138)aaaagtfs	p.KS1045fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.KS1007fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1045					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)	TATTTTTTTACTTTTCTTTTCTCCA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937615	CTTTT	-	76937611	7	5	671	1	0	1	0	1	0	0	0	0	1213	565	20	0	4449	0	ATRX	23	76937611	Frame_Shift_Del	DEL	CTTTT	TCGA-QH-A6X3-01A-21D-A32B-08	26772015	76937611	78332949	33	53015											
FUBP1	8880	broad.mit.edu	37	chr1	78422268	78422271	+	Frame_Shift_Del	DEL	GTTT	GTTT	-																															tgtagttaccttgtccattaGtttgagttgtagttggtgca																										TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:78422268_78422271delGTTT	ENST00000370767.1	-	17	1778_1781	c.1691_1694delAAAC	c.(1690-1695)caaactfs	p.QT564fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.QT585fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.QT564fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	564					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TTGTCCATTAGTTTGAGTTGTAGT	0.407			"F, N"		oligodendroglioma								-	78422271	GTTT	-	78422268	7	5	672	1	0	1	0	1	0	0	0	0	6144	1029	36	0	256	0	FUBP1	1	78422268	Frame_Shift_Del	DEL	GTTT	TCGA-QH-A6X4-01A-51D-A32B-08		78422268	170828353	1	53016											
CAPN9	10753	broad.mit.edu	37	chr1	230903392	230903392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caaactaaagaggcccccgaGaacttctatgagattctaga	15	8	8	10	1	2	4	0	1	2	4	2	6	2	4	2	1	2	0	2	1	6	5			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr1:230903392G>C	ENST00000354537.1	+	5	724	c.642G>C	c.(640-642)gaG>gaC	p.E214D	CAPN9_ENST00000366666.2_Missense_Mutation_p.E151D|RP11-99J16__A.2_ENST00000412344.1_RNA|CAPN9_ENST00000271971.2_Missense_Mutation_p.E214D	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	214	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGGCCCCCGAGAACTTCTATG	0.537													C	230903392	G	C	230903392	3	2	672	1	0	0	0	0	1	0	0	0	2658	933	33	4	660	4	CAPN9	1	230903392	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	152481124	230903392	18347229	2	53017											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	672	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		209113112	34086261	3	53018											
SPP2	6694	broad.mit.edu	37	chr2	234959502	234959502	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctcttggaatgaactaCtggtcttgctcaggtaaggt	8	15	11	7	0	3	1	1	1	2	0	3	2	3	2	0	4	4	3	0	4	4	5			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr2:234959502C>T	ENST00000168148.3	+	1	160	c.72C>T	c.(70-72)taC>taT	p.Y24Y	SPP2_ENST00000492481.1_3'UTR|SPP2_ENST00000373368.1_Silent_p.Y24Y	NM_006944.2	NP_008875.1	Q13103	SPP24_HUMAN	secreted phosphoprotein 2, 24kDa	24					bone remodeling|skeletal system development	extracellular region	endopeptidase inhibitor activity			breast(1)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12		Breast(86;0.0109)|Renal(207;0.019)|all_lung(227;0.13)|all_hematologic(139;0.182)		Epithelial(121;5.73e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000166)|Lung(119;0.00539)|LUSC - Lung squamous cell carcinoma(224;0.00846)		GAATGAACTACTGGTCTTGCT	0.473													T	234959502	C	T	234959502	2	4	672	1	0	0	0	0	0	0	0	1	15183	576	20	2		2	SPP2	2	234959502	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	25846390	234959502	8239871	4	53019											
CCR2	729230	broad.mit.edu	37	chr3	46399083	46399083	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagcggtgaagaagtcaccaCcttttttgattatgattacg	11	13	10	7	2	1	4	1	3	0	1	1	5	1	4	2	1	2	0	2	1	4	5			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:46399083C>G	ENST00000292301.4	+	2	550	c.65C>G	c.(64-66)aCc>aGc	p.T22S	CCR2_ENST00000445132.2_Missense_Mutation_p.T22S|CCR2_ENST00000400888.2_Missense_Mutation_p.T22S|CCR2_ENST00000465202.1_Intron	NM_001123041.2	NP_001116513.2	P41597	CCR2_HUMAN	chemokine (C-C motif) receptor 2	22					astrocyte cell migration|blood vessel remodeling|cellular defense response|chemokine-mediated signaling pathway|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|immune response|inflammatory response|interspecies interaction between organisms|JAK-STAT cascade|monocyte extravasation|negative regulation of adenylate cyclase activity|negative regulation of angiogenesis|negative regulation of eosinophil degranulation|negative regulation of type 2 immune response|positive regulation of alpha-beta T cell proliferation|positive regulation of immune complex clearance by monocytes and macrophages|positive regulation of inflammatory response|positive regulation of interferon-gamma production|positive regulation of interleukin-2 production|positive regulation of monocyte chemotaxis|positive regulation of T cell chemotaxis|positive regulation of T cell extravasation|positive regulation of T-helper 1 type immune response|positive regulation of tumor necrosis factor biosynthetic process|regulation of vascular endothelial growth factor production|T-helper 17 cell chemotaxis	cytosol|dendrite|integral to plasma membrane|perikaryon|perinuclear region of cytoplasm|soluble fraction	C-C chemokine receptor activity|CCR2 chemokine receptor binding|protein homodimerization activity			breast(3)|endometrium(1)|large_intestine(1)|liver(2)|lung(7)	14				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0174)|Kidney(197;0.0206)		GAAGTCACCACCTTTTTTGAT	0.468													G	46399083	C	G	46399083	3	3	672	1	0	0	0	0	1	0	0	0	2971	507	18	4	67	4	CCR2	3	46399083	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		46399083	151623347	5	53020											
FAIM	55179	broad.mit.edu	37	chr3	138351879	138351879	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagaagggattattcatacTctcattgtggataatagaga	16	12	9	4	0	2	2	2	0	1	2	3	5	2	4	0	2	1	0	0	2	6	6			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr3:138351879T>G	ENST00000338446.4	+	6	1283	c.600T>G	c.(598-600)acT>acG	p.T200T	FAIM_ENST00000360570.3_Silent_p.T188T|FAIM_ENST00000464668.1_Silent_p.T166T|FAIM_ENST00000393034.2_Silent_p.T166T|FAIM_ENST00000393035.2_Silent_p.T166T	NM_001033030.1	NP_001028202.1	Q9NVQ4	FAIM1_HUMAN	Fas apoptotic inhibitory molecule	166					apoptosis	cytoplasm				kidney(1)|upper_aerodigestive_tract(1)	2						TTATTCATACTCTCATTGTGG	0.358													G	138351879	T	G	138351879	2	3	672	1	0	0	0	0	0	0	0	1	5420	1538	54	5		5	FAIM	3	138351879	Silent	SNP	T	TCGA-QH-A6X4-01A-51D-A32B-08	91952796	138351879	59670551	6	53021											
PCDH18	54510	broad.mit.edu	37	chr4	138452455	138452455	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattcagatctaagagcaaaGtgccaaccggggagttttct	12	10	10	9	1	3	2	1	0	2	2	3	3	3	3	2	2	3	2	2	2	3	4			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr4:138452455G>C	ENST00000344876.4	-	1	1174	c.788C>G	c.(787-789)aCt>aGt	p.T263S	PCDH18_ENST00000507846.1_Missense_Mutation_p.T43S|PCDH18_ENST00000412923.2_Missense_Mutation_p.T263S|PCDH18_ENST00000511115.1_Intron|PCDH18_ENST00000510305.1_Intron	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	263	Cadherin 3.				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					TAAGAGCAAAGTGCCAACCGG	0.413													C	138452455	G	C	138452455	3	2	672	1	0	0	0	0	1	0	0	0	11589	1029	36	4	2635	4	PCDH18	4	138452455	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		138452455	52701821	7	53022											
RASGRF2	5924	broad.mit.edu	37	chr5	80408515	80408515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agtgccccagatccgttatgCcagcgtggagcgcctcttgg	6	9	13	13	3	1	1	0	0	1	1	2	2	2	2	5	2	4	1	5	2	1	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:80408515C>T	ENST00000265080.4	+	14	1992	c.1925C>T	c.(1924-1926)gCc>gTc	p.A642V		NM_006909.2	NP_008840.1	O14827	RGRF2_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 2	642	N-terminal Ras-GEF.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|endoplasmic reticulum membrane|plasma membrane	protein binding|Rho guanyl-nucleotide exchange factor activity			biliary_tract(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(28)|ovary(5)|prostate(3)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75		Lung NSC(167;0.00498)|all_lung(232;0.00531)|Ovarian(174;0.0357)		OV - Ovarian serous cystadenocarcinoma(54;4.22e-42)|Epithelial(54;4.04e-35)|all cancers(79;2.52e-29)		ATCCGTTATGCCAGCGTGGAG	0.483													T	80408515	C	T	80408515	3	4	672	1	0	0	0	0	1	0	0	0	13161	739	26	2	1979	2	RASGRF2	5	80408515	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		80408515	100506745	8	53023											
CEP120	153241	broad.mit.edu	37	chr5	122754074	122754074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgctgatgaagcgctttcCtgtcaatttcccaagctaac	9	13	8	11	1	1	2	1	2	0	0	3	2	3	2	2	0	4	3	2	0	4	3			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:122754074C>T	ENST00000306467.5	-	2	489	c.185G>A	c.(184-186)aGg>aAg	p.R62K	CEP120_ENST00000328236.5_Missense_Mutation_p.R62K|CEP120_ENST00000306481.6_Missense_Mutation_p.R36K|CEP120_ENST00000395431.2_Missense_Mutation_p.R62K			Q8N960	CE120_HUMAN	centrosomal protein 120kDa	62						centrosome				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	29						AAGCGCTTTCCTGTCAATTTC	0.383													T	122754074	C	T	122754074	3	4	672	1	0	0	0	0	1	0	0	0	3276	681	24	2	2851	2	CEP120	5	122754074	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	42345559	122754074	58161186	9	53024											
HNRNPA0	10949	broad.mit.edu	37	chr5	137089260	137089260	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttcttcacctccacgcgatGgccctgaatcggatggaact	8	11	9	13	3	2	1	1	1	1	0	4	4	3	3	3	3	1	0	3	3	2	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr5:137089260G>A	ENST00000314940.4	-	1	779	c.496C>T	c.(496-498)Cat>Tat	p.H166Y		NM_006805.3	NP_006796.1	Q13151	ROA0_HUMAN	heterogeneous nuclear ribonucleoprotein A0	166	RRM 2.				nuclear mRNA splicing, via spliceosome	heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|RNA binding			large_intestine(1)|lung(2)|skin(1)	4			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCACGCGATGGCCCTGAATC	0.642													A	137089260	G	A	137089260	3	1	672	1	0	0	0	0	1	0	0	0	7311	1348	47	2	425	2	HNRNPA0	5	137089260	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	14335186	137089260	43826000	10	53025											
ITPR3	3710	broad.mit.edu	37	chr6	33650337	33650337	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtgcagctgctgcagtctAccacacgcctcctcgagtgt	6	10	11	14	2	1	0	0	0	1	0	3	1	2	0	3	1	5	4	3	1	1	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:33650337A>G	ENST00000374316.5	+	35	5573	c.4513A>G	c.(4513-4515)Acc>Gcc	p.T1505A	ITPR3_ENST00000605930.1_Missense_Mutation_p.T1505A			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	1505					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCTGCAGTCTACCACACGCCT	0.662													G	33650337	A	G	33650337	3	3	672	1	0	0	0	0	1	0	0	0	7980	391	14	3	4647	3	ITPR3	6	33650337	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		33650337	137464730	11	53026											
PTK7	5754	broad.mit.edu	37	chr6	43109996	43109996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctgcattgcaggcaacaGctgcaacatcaagcacacgg	13	5	9	14	1	1	0	1	0	0	0	1	0	1	0	1	2	7	6	1	2	3	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr6:43109996G>A	ENST00000230419.4	+	13	2227	c.2006G>A	c.(2005-2007)aGc>aAc	p.S669N	PTK7_ENST00000349241.2_Missense_Mutation_p.S539N|PTK7_ENST00000352931.2_Intron|PTK7_ENST00000481273.1_Missense_Mutation_p.S677N|PTK7_ENST00000345201.2_Missense_Mutation_p.S629N	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	669	Ig-like C2-type 7.				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			GCAGGCAACAGCTGCAACATC	0.597													A	43109996	G	A	43109996	3	1	672	1	0	0	0	0	1	0	0	0	12851	971	34	2	2056	2	PTK7	6	43109996	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	9459659	43109996	128005071	12	53027											
CYP3A43	64816	broad.mit.edu	37	chr7	99453218	99453218	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttaattttcctatagcactCtttccatttcttaccccagt	8	19	2	12	0	2	0	0	0	2	0	4	0	4	0	4	0	2	1	4	0	4	9			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr7:99453218C>T	ENST00000354829.2	+	8	778	c.675C>T	c.(673-675)ctC>ctT	p.L225L	CYP3A43_ENST00000415413.1_Intron|CYP3A43_ENST00000417625.1_Silent_p.L115L|CYP3A43_ENST00000477658.1_3'UTR|CYP3A43_ENST00000342499.4_Intron|CYP3A43_ENST00000444905.1_Intron|CYP3A43_ENST00000312017.5_Silent_p.L225L|CYP3A43_ENST00000222382.5_Silent_p.L225L	NM_022820.3|NM_057095.1	NP_073731.1|NP_476436.1	Q9HB55	CP343_HUMAN	cytochrome P450, family 3, subfamily A, polypeptide 43	225			Missing (in allele CYP3A43*2).		xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(1)	19	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)				Cetirizine(DB00341)|Doxycycline(DB00254)	CTATAGCACTCTTTCCATTTC	0.279													T	99453218	C	T	99453218	2	4	672	1	0	0	0	0	0	0	0	1	4212	900	32	2		2	CYP3A43	7	99453218	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		99453218	59685445	13	53028											
DNAI1	27019	broad.mit.edu	37	chr9	34493301	34493301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagggaagatggccatgaGgaagctgacatctatggagt	13	8	14	6	0	2	3	1	2	1	1	2	6	2	6	1	4	1	1	1	4	3	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr9:34493301G>A	ENST00000242317.4	+	9	962	c.791G>A	c.(790-792)aGg>aAg	p.R264K	DNAI1_ENST00000488369.1_3'UTR	NM_001281428.1|NM_012144.2	NP_001268357.1|NP_036276.1	Q9UI46	DNAI1_HUMAN	dynein, axonemal, intermediate chain 1	264					cell projection organization	cilium axoneme|cytoplasm|dynein complex|microtubule	motor activity			autonomic_ganglia(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|prostate(1)|skin(2)|urinary_tract(1)	34	all_epithelial(49;0.244)		LUSC - Lung squamous cell carcinoma(29;0.0107)|STAD - Stomach adenocarcinoma(86;0.212)	GBM - Glioblastoma multiforme(74;0.0222)		ATGGCCATGAGGAAGCTGACA	0.478									Kartagener syndrome				A	34493301	G	A	34493301	3	1	672	1	0	0	0	0	1	0	0	0	4648	1000	35	2	825	2	DNAI1	9	34493301	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		34493301	106720130	14	53029											
SVIL	6840	broad.mit.edu	37	chr10	29779937	29779937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccgcttgtgctcggccacgGaagacgtcaatctgcggatg	7	8	13	13	5	2	1	1	0	1	1	3	3	2	3	2	3	2	2	2	3	2	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:29779937G>A	ENST00000375398.2	-	24	4480	c.4031C>T	c.(4030-4032)tCc>tTc	p.S1344F	SVIL_ENST00000375400.3_Missense_Mutation_p.S918F|SVIL_ENST00000538146.1_Missense_Mutation_p.S136F|SVIL_ENST00000535393.1_Missense_Mutation_p.S258F|SVIL_ENST00000355867.4_Missense_Mutation_p.S1344F			O95425	SVIL_HUMAN	supervillin	1344					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTCGGCCACGGAAGACGTCAA	0.587													A	29779937	G	A	29779937	3	1	672	1	0	0	0	0	1	0	0	0	15517	1174	41	2	2681	2	SVIL	10	29779937	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		29779937	105754810	15	53030											
AGAP11	119385	broad.mit.edu	37	chr10	88769470	88769470	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagacctgtggggagggagaCggctgcacggcgctccatct	7	6	17	11	3	1	2	0	0	1	2	2	5	2	3	2	5	1	3	2	5	0	0			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr10:88769470C>T	ENST00000444431.1	+	0	4070				RP11-96C23.14_ENST00000444180.3_RNA|RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										GGGAGGGAGACGGCTGCACGG	0.672													T	88769470	C	T	88769470	1	4	672	0	1	0	0	0	0	0	0	0	367	535	19	1		1	AGAP11	10	88769470	RNA	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	58989533	88769470	46765277	16	53031											
CELF1	10658	broad.mit.edu	37	chr11	47498502	47498502	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tactgctgctagagctaggtGaggaccctgctattagaaag	11	10	12	8	0	0	3	0	1	0	2	0	4	0	4	1	2	5	4	1	2	6	5			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:47498502G>A	ENST00000395290.2	-	9	905	c.896C>T	c.(895-897)tCa>tTa	p.S299L	CELF1_ENST00000531165.1_Missense_Mutation_p.S328L|CELF1_ENST00000532048.1_Missense_Mutation_p.S326L|CELF1_ENST00000358597.3_Missense_Mutation_p.S300L|CELF1_ENST00000310513.5_Missense_Mutation_p.S296L|CELF1_ENST00000361904.3_Missense_Mutation_p.S297L|CELF1_ENST00000395292.2_Missense_Mutation_p.S297L	NM_001025596.2|NM_001172640.1	NP_001020767.1|NP_001166111.1	Q92879	CELF1_HUMAN	CUGBP, Elav-like family member 1	300	Ser-rich.				embryo development|mRNA splice site selection|regulation of RNA splicing|RNA interference	cytoplasm|nucleus|ribonucleoprotein complex	BRE binding|mRNA binding|nucleotide binding|translation repressor activity, nucleic acid binding			central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(2)	18						AGAGCTAGGTGAGGACCCTGC	0.463													A	47498502	G	A	47498502	3	1	672	1	0	0	0	0	1	0	0	0	3245	1294	45	2	577	2	CELF1	11	47498502	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		47498502	87508014	17	53032											
PRDM10	56980	broad.mit.edu	37	chr11	129814836	129814836	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccgggtgagcaccggccGgttggggatcgggtgcaagg	5	5	21	10	4	0	1	0	1	0	0	1	2	0	2	3	8	2	3	3	8	1	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr11:129814836G>A	ENST00000358825.5	-	6	823	c.592C>T	c.(592-594)Cgg>Tgg	p.R198W	PRDM10_ENST00000526082.1_Missense_Mutation_p.R112W|PRDM10_ENST00000304538.6_Missense_Mutation_p.R112W|PRDM10_ENST00000528746.1_Missense_Mutation_p.R172W|PRDM10_ENST00000423662.2_Missense_Mutation_p.R112W|PRDM10_ENST00000360871.3_Missense_Mutation_p.R198W	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		AGCACCGGCCGGTTGGGGATC	0.617													A	129814836	G	A	129814836	3	1	672	1	0	0	0	0	1	0	0	0	12537	1115	39	1	2958	1	PRDM10	11	129814836	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08	82316334	129814836	5191680	18	53033											
AACS	65985	broad.mit.edu	37	chr12	125603203	125603203	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcggctggatgatgtGgaactggatggtgtcccttc	6	11	16	8	1	0	1	0	1	0	0	3	4	1	4	1	6	1	2	1	6	1	1			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr12:125603203G>A	ENST00000316519.6	+	10	1219	c.1013G>A	c.(1012-1014)tGg>tAg	p.W338*	AACS_ENST00000316543.10_5'UTR|AACS_ENST00000261686.6_Nonsense_Mutation_p.W338*	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	338					fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TGGATGATGTGGAACTGGATG	0.652													A	125603203	G	A	125603203	4	1	672	1	0	0	0	0	0	1	0	0	9	1357	47	2	1051	2	AACS	12	125603203	Nonsense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		125603203	8248692	19	53034											
TXNDC16	57544	broad.mit.edu	37	chr14	52985913	52985913	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtattccaatggctcttacaTatgagaatataatatttgct	13	16	6	6	0	1	1	0	1	1	1	2	2	2	1	1	1	2	3	1	1	8	8			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr14:52985913T>C	ENST00000281741.4	-	7	862	c.491A>G	c.(490-492)tAt>tGt	p.Y164C	TXNDC16_ENST00000554399.1_Intron	NM_001160047.1|NM_020784.2	NP_001153519.1|NP_065835.2	Q9P2K2	TXD16_HUMAN	thioredoxin domain containing 16	164					cell redox homeostasis	extracellular region				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(3)|skin(1)	21	Breast(41;0.0716)					GGCTCTTACATATGAGAATAT	0.318													C	52985913	T	C	52985913	3	2	672	1	0	0	0	0	1	0	0	0	16897	1406	49	3	2046	3	TXNDC16	14	52985913	Missense_Mutation	SNP	T	TCGA-QH-A6X4-01A-51D-A32B-08		52985913	54363627	20	53035											
KLHL14	57565	broad.mit.edu	37	chr18	30275430	30275430	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gttgttcaatagttaccattCggattccactggtcctctcc	7	15	7	12	1	2	0	1	0	1	0	6	1	4	1	4	2	1	3	4	2	3	6			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr18:30275430C>T	ENST00000359358.4	-	4	1593	c.1155G>A	c.(1153-1155)ccG>ccA	p.P385P		NM_020805.1	NP_065856.1	Q9P2G3	KLH14_HUMAN	kelch-like family member 14	385						cytosol|endoplasmic reticulum membrane				breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(20)|ovary(2)	31						AGTTACCATTCGGATTCCACT	0.418													T	30275430	C	T	30275430	2	4	672	1	0	0	0	0	0	0	0	1	8428	871	31	1		1	KLHL14	18	30275430	Silent	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08		30275430	47801818	21	53036											
MUC16	94025	broad.mit.edu	37	chr19	9075528	9075528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatgtgagtttggatgacGctgagtgggctgggatagtg	8	11	19	3	1	0	4	0	3	0	1	0	7	0	6	0	3	0	3	0	3	1	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:9075528G>A	ENST00000397910.4	-	3	12121	c.11918C>T	c.(11917-11919)gCg>gTg	p.A3973V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3975	Ser-rich.|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						TTTGGATGACGCTGAGTGGGC	0.488													A	9075528	G	A	9075528	3	1	672	1	0	0	0	0	1	0	0	0	10049	1087	38	1	31933	1	MUC16	19	9075528	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		9075528	50053455	22	53037											
CIC	23152	broad.mit.edu	37	chr19	42795433	42795433	+	Frame_Shift_Del	DEL	T	T	-																															gctgccccagcagcttcaggTggcacctgccccagcaccag																										TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:42795433delT	ENST00000572681.2	+	11	5308	c.5240delT	c.(5239-5241)gtgfs	p.V1747fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V838fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V838fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	838					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAGCTTCAGGTGGCACCTGCC	0.682			"Mis, F, S"		oligodendroglioma								-	42795433	T	-	42795433	7	5	672	1	0	1	0	1	0	0	0	0	3454	1696	59	0	2551	0	CIC	19	42795433	Frame_Shift_Del	DEL	T	TCGA-QH-A6X4-01A-51D-A32B-08	33719905	42795433	16333550	23	53038											
ZNF543	125919	broad.mit.edu	37	chr19	57835059	57835059	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taattttccaggtgtctgtgAcctttgaggatgtggctgtg	6	16	13	6	0	1	2	0	2	1	0	2	3	2	3	2	3	0	1	2	3	1	4			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:57835059A>G	ENST00000321545.4	+	2	373	c.28A>G	c.(28-30)Acc>Gcc	p.T10A		NM_213598.3	NP_998763.2	Q08ER8	ZN543_HUMAN	zinc finger protein 543	10	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|kidney(2)|large_intestine(8)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	28		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		GGTGTCTGTGACCTTTGAGGA	0.493													G	57835059	A	G	57835059	3	3	672	1	0	0	0	0	1	0	0	0	18077	275	10	3	34	3	ZNF543	19	57835059	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08	15039626	57835059	1293924	24	53039											
ZNF773	374928	broad.mit.edu	37	chr19	58018648	58018648	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaatgaatgtgggagattCtttagtgagaattccagcct	11	13	11	6	0	1	3	0	2	1	2	2	5	2	3	2	1	2	1	2	1	4	4			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr19:58018648C>A	ENST00000282292.4	+	4	1325	c.1185C>A	c.(1183-1185)ttC>ttA	p.F395L	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.F394L	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	395					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		GTGGGAGATTCTTTAGTGAGA	0.423													A	58018648	C	A	58018648	3	1	672	1	0	0	0	0	1	0	0	0	18245	912	32	4	1199	4	ZNF773	19	58018648	Missense_Mutation	SNP	C	TCGA-QH-A6X4-01A-51D-A32B-08	183589	58018648	1110335	25	53040											
MYH7B	57644	broad.mit.edu	37	chr20	33578596	33578596	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacacagccccacttcgtccGctgcattgtccccaacgaga	9	7	7	18	3	0	1	0	0	0	1	3	2	2	1	5	0	3	2	5	0	1	2			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr20:33578596G>A	ENST00000262873.7	+	21	2251	c.2159G>A	c.(2158-2160)cGc>cAc	p.R720H		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	678	Myosin head-like.					membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CACTTCGTCCGCTGCATTGTC	0.627													A	33578596	G	A	33578596	3	1	672	1	0	0	0	0	1	0	0	0	10116	1087	38	1	2241	1	MYH7B	20	33578596	Missense_Mutation	SNP	G	TCGA-QH-A6X4-01A-51D-A32B-08		33578596	29446924	26	53041											
NCAM2	4685	broad.mit.edu	37	chr21	22710761	22710761	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actacatatgagaatggtcaAgtcacactcgtatgtgatgc	13	11	9	8	1	2	2	2	2	0	1	3	3	2	2	0	1	2	1	0	1	5	3			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr21:22710761A>G	ENST00000400546.1	+	8	1200	c.951A>G	c.(949-951)caA>caG	p.Q317Q	NCAM2_ENST00000284894.7_Silent_p.Q175Q|NCAM2_ENST00000535285.1_Silent_p.Q342Q	NM_004540.3	NP_004531.2	O15394	NCAM2_HUMAN	neural cell adhesion molecule 2	317	Ig-like C2-type 4.				neuron cell-cell adhesion	integral to membrane|plasma membrane				breast(4)|cervix(2)|endometrium(8)|kidney(6)|large_intestine(22)|liver(4)|lung(49)|ovary(4)|prostate(4)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	108		Lung NSC(9;0.195)		all cancers(11;0.00102)|OV - Ovarian serous cystadenocarcinoma(11;0.00121)|Epithelial(23;0.00147)|Colorectal(24;0.174)		AGAATGGTCAAGTCACACTCG	0.393													G	22710761	A	G	22710761	2	3	672	1	0	0	0	0	0	0	0	1	10279	69	3	3		3	NCAM2	21	22710761	Silent	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		22710761	25419134	27	53042											
PLA2G3	50487	broad.mit.edu	37	chr22	31535869	31535869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaatctccaactccacaccAcagtgtgccaggcatggtcc	11	7	8	15	0	1	1	0	0	1	1	4	1	3	1	5	2	2	1	5	2	2	0			TCGA-QH-A6X4-01A-51D-A32B-08	TCGA-QH-A6X4-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	efd92c1a-5310-48e7-887f-e1336b1cff21	ee07165f-dd39-44ce-bbd3-5ebaa3afeb95	g.chr22:31535869A>G	ENST00000215885.3	-	1	724	c.472T>C	c.(472-474)Tgg>Cgg	p.W158R		NM_015715.3	NP_056530.2	Q9NZ20	PA2G3_HUMAN	phospholipase A2, group III	158	Phospholipase A2-like.				cilium morphogenesis|lipid catabolic process|phospholipid metabolic process	centriole|extracellular space|plasma membrane	calcium ion binding|calcium-dependent phospholipase A2 activity			large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	18						ACTCCACACCACAGTGTGCCA	0.622													G	31535869	A	G	31535869	3	3	672	1	0	0	0	0	1	0	0	0	12077	159	6	3	1085	3	PLA2G3	22	31535869	Missense_Mutation	SNP	A	TCGA-QH-A6X4-01A-51D-A32B-08		31535869	19768697	28	53043											
GSTM2	2946	broad.mit.edu	37	chr1	110217422	110217422	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccgcttcctcccaagaccTgtgttcacaaagatggctgt	9	10	9	13	1	1	2	1	0	0	2	3	2	3	2	4	1	1	3	4	1	2	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:110217422T>C	ENST00000241337.4	+	8	671	c.621T>C	c.(619-621)ccT>ccC	p.P207P	GSTM2_ENST00000414179.2_Intron|GSTM2_ENST00000369827.3_Silent_p.P168P|GSTM2_ENST00000442650.1_Intron|GSTM2_ENST00000369831.2_Intron|GSTM2_ENST00000460717.3_Intron	NM_000848.3	NP_000839.1			glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		TCCCAAGACCTGTGTTCACAA	0.577													C	110217422	T	C	110217422	2	2	673	1	0	0	0	0	0	0	0	1	6893	1567	55	3		3	GSTM2	1	110217422	Silent	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08		110217422	139033199	1	53044											
ASTN1	460	broad.mit.edu	37	chr1	177001793	177001793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggagttgtggccctgcaCgcgggcattgcgcaggctct	5	9	15	12	3	1	0	0	0	1	0	1	1	1	1	1	4	2	5	1	4	0	2	rs148328689		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:177001793C>T	ENST00000367654.3	-	3	875	c.664G>A	c.(664-666)Gtg>Atg	p.V222M	ASTN1_ENST00000367657.3_Missense_Mutation_p.V222M|ASTN1_ENST00000424564.2_Missense_Mutation_p.V222M|ASTN1_ENST00000361833.2_Missense_Mutation_p.V222M|ASTN1_ENST00000281881.3_5'UTR	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						TGGCCCTGCACGCGGGCATTG	0.602													T	177001793	C	T	177001793	3	4	673	1	0	0	0	0	1	0	0	0	1069	536	19	1	3308	1	ASTN1	1	177001793	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	66784371	177001793	72248828	2	53045											
EDEM3	80267	broad.mit.edu	37	chr1	184686700	184686700	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taagaagtaggtactttctgCaaattctggccttaaaggat	13	13	9	6	0	2	1	0	0	2	1	2	2	2	2	1	3	2	3	1	3	7	6			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr1:184686700C>G	ENST00000318130.8	-	12	1485	c.1219G>C	c.(1219-1221)Gca>Cca	p.A407P	EDEM3_ENST00000367512.3_Missense_Mutation_p.A364P	NM_025191.3	NP_079467.3	Q9BZQ6	EDEM3_HUMAN	ER degradation enhancer, mannosidase alpha-like 3	407					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|response to unfolded protein	endoplasmic reticulum lumen|endoplasmic reticulum membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity|misfolded protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GTACTTTCTGCAAATTCTGGC	0.333													G	184686700	C	G	184686700	3	3	673	1	0	0	0	0	1	0	0	0	4952	710	25	4	1615	4	EDEM3	1	184686700	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	7684907	184686700	64563921	3	53046											
WDR75	84128	broad.mit.edu	37	chr2	190316559	190316559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agttggatgtaaacttcatgCcctctttactcttgcccaag	9	14	7	11	0	3	0	1	0	2	0	3	1	3	1	2	1	4	2	2	1	4	6			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:190316559C>T	ENST00000314761.4	+	4	371	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_032168.1	NP_115544.1	Q8IWA0	WDR75_HUMAN	WD repeat domain 75	104						nucleolus				breast(1)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00105)|Epithelial(96;0.0129)|all cancers(119;0.0456)			AAACTTCATGCCCTCTTTACT	0.383													T	190316559	C	T	190316559	3	4	673	1	0	0	0	0	1	0	0	0	17427	739	26	2	325	2	WDR75	2	190316559	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		190316559	52882814	4	53047											
C2orf88	84281	broad.mit.edu	37	chr2	191064711	191064711	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctaggatggcttctccagTtaatgtcaaagaggaagtga	13	10	11	7	0	2	2	1	1	1	1	3	4	2	4	2	3	0	2	2	3	4	3			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:191064711T>C	ENST00000340623.4	+	2	536	c.125T>C	c.(124-126)gTt>gCt	p.V42A	C2orf88_ENST00000409870.1_Missense_Mutation_p.V42A|C2orf88_ENST00000396974.2_Missense_Mutation_p.V42A|C2orf88_ENST00000443551.2_Missense_Mutation_p.V42A	NM_001042519.1|NM_001042520.1|NM_001042521.1|NM_032321.2	NP_001035984.1|NP_001035985.1|NP_001035986.1|NP_115697.2	Q9BSF0	CB088_HUMAN	chromosome 2 open reading frame 88	42										kidney(1)|large_intestine(1)|lung(1)	3						GCTTCTCCAGTTAATGTCAAA	0.458													C	191064711	T	C	191064711	3	2	673	1	0	0	0	0	1	0	0	0	2223	1725	60	3	127	3	C2orf88	2	191064711	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	748152	191064711	52134662	5	53048											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	673	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	18048401	209113112	34086261	6	53049											
ODAM	54959	broad.mit.edu	37	chr4	71063664	71063664	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttaattcatggattccAcctttctctggaattttaca	10	16	4	11	0	2	0	1	0	1	0	4	2	3	2	3	2	1	0	3	2	3	6			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:71063664A>G	ENST00000396094.2	+	4	213	c.165A>G	c.(163-165)ccA>ccG	p.P55P		NM_017855.3	NP_060325.3	A1E959	ODAM_HUMAN	odontogenic, ameloblast asssociated	55					biomineral tissue development|odontogenesis of dentine-containing tooth	fibril				NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(8)|ovary(3)|skin(2)	20						CATGGATTCCACCTTTCTCTG	0.423													G	71063664	A	G	71063664	2	3	673	1	0	0	0	0	0	0	0	1	10900	146	6	3		3	ODAM	4	71063664	Silent	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		71063664	120090612	7	53050											
ANTXR2	118429	broad.mit.edu	37	chr4	80940082	80940082	+	Frame_Shift_Del	DEL	T	T	-																															gctgtgacaattaatgatccTgaaatgacagattttcctcc																										TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:80940082delT	ENST00000403729.2	-	11	1440	c.915delA	c.(913-915)tcafs	p.S305fs	ANTXR2_ENST00000404191.1_Frame_Shift_Del_p.S228fs|ANTXR2_ENST00000346652.6_Intron|ANTXR2_ENST00000307333.7_Frame_Shift_Del_p.S305fs	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2	305						endoplasmic reticulum membrane|extracellular region|integral to membrane|plasma membrane	metal ion binding|protein binding|receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						TTAATGATCCTGAAATGACAG	0.303									Juvenile Hyaline Fibromatosis				-	80940082	T	-	80940082	7	5	673	1	0	1	0	1	0	0	0	0	712	1567	55	0	621	0	ANTXR2	4	80940082	Frame_Shift_Del	DEL	T	TCGA-QH-A6X5-01A-12D-A32B-08	9876418	80940082	110214194	8	53051											
ADH4	127	broad.mit.edu	37	chr4	100047870	100047870	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagctttgggatagaatcTacacttttccaacctgtaat	12	13	6	10	0	1	1	0	0	1	1	2	2	2	2	3	1	3	2	3	1	5	6			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:100047870T>C	ENST00000508393.1	-	9	1215	c.1050A>G	c.(1048-1050)gtA>gtG	p.V350V	ADH4_ENST00000423445.1_Silent_p.V350V|RP11-696N14.1_ENST00000500358.2_RNA|ADH4_ENST00000505590.1_Silent_p.V350V|ADH4_ENST00000265512.7_Silent_p.V331V			P08319	ADH4_HUMAN	alcohol dehydrogenase 4 (class II), pi polypeptide	331					alcohol catabolic process|cellular aldehyde metabolic process|ethanol oxidation|quinone cofactor metabolic process|retinol metabolic process|xenobiotic metabolic process	cytosol|microtubule cytoskeleton	alcohol dehydrogenase activity, zinc-dependent|all-trans retinal binding|benzaldehyde dehydrogenase activity|NAD binding|NADPH:quinone reductase activity|retinol binding|retinol dehydrogenase activity|zinc ion binding			NS(1)|cervix(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)|skin(2)	18				OV - Ovarian serous cystadenocarcinoma(123;4.48e-08)	NADH(DB00157)	GGATAGAATCTACACTTTTCC	0.373													C	100047870	T	C	100047870	2	2	673	1	0	0	0	0	0	0	0	1	310	1509	53	3		3	ADH4	4	100047870	Silent	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	19107788	100047870	91106406	9	53052											
LRBA	987	broad.mit.edu	37	chr4	151821338	151821338	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactgtaccaatgaattccGtggacagataagtatagagc	14	10	10	7	1	0	4	0	2	0	2	1	5	1	5	2	1	2	2	2	1	6	5			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:151821338G>A	ENST00000535741.1	-	14	2260	c.1787C>T	c.(1786-1788)aCg>aTg	p.T596M	LRBA_ENST00000510413.1_Missense_Mutation_p.T596M|LRBA_ENST00000357115.3_Missense_Mutation_p.T596M|LRBA_ENST00000507224.1_Missense_Mutation_p.T596M			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	596						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					AATGAATTCCGTGGACAGATA	0.408													A	151821338	G	A	151821338	3	1	673	1	0	0	0	0	1	0	0	0	9001	1145	40	1	6984	1	LRBA	4	151821338	Missense_Mutation	SNP	G	TCGA-QH-A6X5-01A-12D-A32B-08	51773468	151821338	39332938	10	53053											
KIAA0922	23240	broad.mit.edu	37	chr4	154506755	154506755	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaaggagaccaagcacAtgttaaaggtacatatagta	16	10	8	7	0	0	1	0	0	0	1	1	2	1	1	2	2	2	4	2	2	8	6			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr4:154506755A>G	ENST00000409959.3	+	13	1352	c.1303A>G	c.(1303-1305)Atg>Gtg	p.M435V	KIAA0922_ENST00000409663.3_Missense_Mutation_p.M434V|KIAA0922_ENST00000440693.1_Missense_Mutation_p.M435V	NM_001131007.1	NP_001124479.1	A2VDJ0	T131L_HUMAN	KIAA0922	434						integral to membrane				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				GACCAAGCACATGTTAAAGGT	0.323													G	154506755	A	G	154506755	3	3	673	1	0	0	0	0	1	0	0	0	8259	217	8	3	1353	3	KIAA0922	4	154506755	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	2685417	154506755	36647521	11	53054											
IPO11	51194	broad.mit.edu	37	chr5	61785996	61785996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgacagtgttgattttgAtcagtggtttaaaaaccagc	11	15	9	6	0	1	3	1	3	0	0	1	3	1	3	1	1	2	2	1	1	3	6			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:61785996A>G	ENST00000325324.6	+	15	1581	c.1412A>G	c.(1411-1413)gAt>gGt	p.D471G	KIF2A_ENST00000509663.2_Intron|IPO11_ENST00000409296.3_Missense_Mutation_p.D511G	NM_016338.4	NP_057422.3	Q9UI26	IPO11_HUMAN	importin 11	471						cytoplasm|nucleus	protein binding			endometrium(2)|kidney(3)|large_intestine(5)|lung(14)|skin(4)|stomach(2)	30		Lung NSC(810;8.99e-06)|Prostate(74;0.0235)|Ovarian(174;0.0511)|Breast(144;0.077)		Lung(70;0.0613)		GTTGATTTTGATCAGTGGTTT	0.284													G	61785996	A	G	61785996	3	3	673	1	0	0	0	0	1	0	0	0	7851	333	12	3	1590	3	IPO11	5	61785996	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		61785996	119129264	12	53055											
EPB41L4A	64097	broad.mit.edu	37	chr5	111594984	111594984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtgaacctttgtaatcCgaggcctaaaaaacaaagca	17	8	8	8	1	0	2	0	2	0	0	1	3	1	2	3	1	3	2	3	1	7	3			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr5:111594984C>T	ENST00000261486.5	-	9	1013	c.737G>A	c.(736-738)cGg>cAg	p.R246Q		NM_022140.3	NP_071423	Q9HCS5	E41LA_HUMAN	erythrocyte membrane protein band 4.1 like 4A	246	FERM.					cytoplasm|cytoskeleton|extrinsic to membrane	cytoskeletal protein binding	p.R246L(2)|p.R246Q(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(2)|skin(1)	34		all_cancers(142;4.93e-06)|all_epithelial(76;2.28e-08)|Prostate(80;0.000244)|Colorectal(10;0.000788)|Ovarian(225;0.0448)|Lung NSC(167;0.126)|all_lung(232;0.135)		OV - Ovarian serous cystadenocarcinoma(64;6.24e-09)|Epithelial(69;1.43e-07)|all cancers(49;2.78e-05)|COAD - Colon adenocarcinoma(37;0.0467)|Colorectal(14;0.0791)		CTTTGTAATCCGAGGCCTAAA	0.393													T	111594984	C	T	111594984	3	4	673	1	0	0	0	0	1	0	0	0	5196	652	23	1	1383	1	EPB41L4A	5	111594984	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	49808988	111594984	69320276	13	53056											
GIMAP8	155038	broad.mit.edu	37	chr7	150174536	150174537	+	Frame_Shift_Del	DEL	TT	TT	-																															aggccatctttggagcagacTttacgaaatacgcgattatg																										TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:150174536_150174537delTT	ENST00000307271.3	+	5	2240_2241	c.1666_1667delTT	c.(1666-1668)tttfs	p.F556fs		NM_175571.2	NP_783161.1	Q8ND71	GIMA8_HUMAN	GTPase, IMAP family member 8	556						endoplasmic reticulum|Golgi apparatus|mitochondrion	GTP binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(26)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	62			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.17)		TGGAGCAGACTTTACGAAATAC	0.495													-	150174537	TT	-	150174536	7	5	673	1	0	1	0	1	0	0	0	0	6441	1609	56	0	1680	0	GIMAP8	7	150174536	Frame_Shift_Del	DEL	TT	TCGA-QH-A6X5-01A-12D-A32B-08		150174536	8964127	14	53057											
VIPR2	7434	broad.mit.edu	37	chr7	158823428	158823428	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccctgtaatcccggctcGcggacggggtcgggcaccgg	6	5	16	14	6	0	1	0	0	0	1	3	2	1	2	3	6	0	3	3	6	1	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr7:158823428G>T	ENST00000262178.2	-	13	1381	c.1196C>A	c.(1195-1197)gCg>gAg	p.A399E	VIPR2_ENST00000402066.1_Missense_Mutation_p.A540E|VIPR2_ENST00000377633.3_Missense_Mutation_p.A383E	NM_003382.4	NP_003373.2	P41587	VIPR2_HUMAN	vasoactive intestinal peptide receptor 2	399					cell-cell signaling	integral to plasma membrane				central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	22	Ovarian(565;0.152)	all_cancers(7;1.13e-11)|all_epithelial(9;0.000545)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)|STAD - Stomach adenocarcinoma(7;0.18)		ATCCCGGCTCGCGGACGGGGT	0.701													T	158823428	G	T	158823428	3	4	673	1	0	0	0	0	1	0	0	0	17272	1087	38	4	124	4	VIPR2	7	158823428	Missense_Mutation	SNP	G	TCGA-QH-A6X5-01A-12D-A32B-08	8648892	158823428	315235	15	53058											
HRCT1	646962	broad.mit.edu	37	chr9	35906583	35906584	+	In_Frame_Ins	INS	-	-	CCACCA																															cgccacacccctcaccacctINSccaccaccaccaccaccccc																								rs112821450	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:35906583_35906584insCCACCA	ENST00000354323.2	+	1	395_396	c.299_300insCCACCA	c.(298-303)ctccac>ctCCACCAccac	p.105_106insHH		NM_001039792.1	NP_001034881.1	Q6UXD1	HRCT1_HUMAN	histidine rich carboxyl terminus 1	105	His-rich.					integral to membrane		p.L100H(1)		NS(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)	4						cctcaccacctccaccaccacc	0.668													CCACCA	35906584	-	CCACCA	35906583	7	5	673	1	0	1	1	0	0	0	0	0	7408	1551	54	0	301	0	HRCT1	9	35906583	In_Frame_Ins	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08		35906583	105306848	16	53059											
CCIN	881	broad.mit.edu	37	chr9	36170642	36170642	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggacagtgtactcagtgggCgggagcattgccccaaggcg	8	6	17	10	2	1	0	1	0	0	0	1	2	1	2	2	4	3	2	2	4	2	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:36170642C>T	ENST00000335119.2	+	1	1254	c.1143C>T	c.(1141-1143)ggC>ggT	p.G381G		NM_005893.2	NP_005884.2	Q13939	CALI_HUMAN	calicin	381					cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			breast(3)|endometrium(2)|large_intestine(4)|liver(2)|lung(5)|ovary(1)|skin(4)	21			STAD - Stomach adenocarcinoma(86;0.228)			ACTCAGTGGGCGGGAGCATTG	0.562													T	36170642	C	T	36170642	2	4	673	1	0	0	0	0	0	0	0	1	2906	755	27	1		1	CCIN	9	36170642	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	264059	36170642	105042789	17	53060											
NPDC1	56654	broad.mit.edu	37	chr9	139934450	139934450	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcccgggcactcgtacacCgtgaagtctccgtcctcatt	7	9	10	15	4	2	1	1	1	1	0	5	1	3	1	4	2	1	2	4	2	2	2			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr9:139934450C>T	ENST00000371600.3	-	7	1764	c.1092G>A	c.(1090-1092)acG>acA	p.T364T	NPDC1_ENST00000371601.4_Silent_p.T286T			Q9NQX5	NPDC1_HUMAN	neural proliferation, differentiation and control, 1	286						integral to membrane				NS(1)|large_intestine(1)|lung(1)|prostate(1)|urinary_tract(1)	5	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0821)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.96e-05)|Epithelial(140;0.000486)		ACTCGTACACCGTGAAGTCTC	0.672													T	139934450	C	T	139934450	2	4	673	1	0	0	0	0	0	0	0	1	10649	639	23	1		1	NPDC1	9	139934450	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	103763808	139934450	1278981	18	53061											
RBM4	5936	broad.mit.edu	37	chr11	66407646	66407646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacaaggctgtgtgcagaaaAtggttggataagtaaaagga	16	8	13	4	0	0	1	0	0	0	1	0	3	0	3	0	4	1	4	0	4	6	3			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr11:66407646A>G	ENST00000483858.1	+	2	531	c.464A>G	c.(463-465)aAt>aGt	p.N155S	RBM4_ENST00000310092.7_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000578778.1_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.N155S|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000408993.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000409406.1_Intron|RBM4_ENST00000398692.4_Intron					RNA binding motif protein 4											endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		TGTGCAGAAAATGGTTGGATA	0.468													G	66407646	A	G	66407646	3	3	673	1	0	0	0	0	1	0	0	0	13222	116	4	3		3	RBM4	11	66407646	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08		66407646	68598870	19	53062											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G																															aaacaagatcggaggccgtaINSgtttattgtggtgctggaag																								rs141646579	by1000genomes	TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													G	7080211	-	G	7080210	8	5	673	1	0	1	1	0	0	0	1	0	5131	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08		7080210	126771685	20	53063											
MAX	4149	broad.mit.edu	37	chr14	65544747	65544747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgtctaggatttgggccCgggatgcctgtggcaatatg	6	13	14	8	1	1	0	0	0	1	0	1	2	1	2	2	4	1	1	2	4	3	4			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:65544747C>T	ENST00000284165.6	-	4	327	c.179G>A	c.(178-180)cGg>cAg	p.R60Q	MAX_ENST00000358664.4_Missense_Mutation_p.R60Q|MAX_ENST00000556443.1_Missense_Mutation_p.R51Q|MAX_ENST00000557746.1_Missense_Mutation_p.R51Q|MAX_ENST00000341653.2_Intron|MAX_ENST00000358402.4_Missense_Mutation_p.R51Q|MAX_ENST00000556979.1_Missense_Mutation_p.R60Q|MAX_ENST00000557277.1_5'UTR|MAX_ENST00000555419.1_Missense_Mutation_p.R24Q|MAX_ENST00000555667.1_Missense_Mutation_p.R51Q|MAX_ENST00000555932.1_Intron	NM_145113.2	NP_660088.1	P61244	MAX_HUMAN	MYC associated factor X	60	Helix-loop-helix motif.				transcription from RNA polymerase II promoter	cytoplasm|MLL1 complex	sequence-specific DNA binding transcription factor activity|transcription coactivator activity	p.R60Q(5)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	17				all cancers(60;0.000776)|OV - Ovarian serous cystadenocarcinoma(108;0.00359)|BRCA - Breast invasive adenocarcinoma(234;0.00999)		GATTTGGGCCCGGGATGCCTG	0.498													T	65544747	C	T	65544747	3	4	673	1	0	0	0	0	1	0	0	0	9414	652	23	1	527	1	MAX	14	65544747	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		65544747	41804793	21	53064											
GALC	2581	broad.mit.edu	37	chr14	88454498	88454498	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attctcctacctgttgtctgCccatcaccacctatttccac	7	14	3	17	0	3	0	1	0	2	0	5	0	4	0	6	0	2	1	6	0	2	5			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr14:88454498C>A	ENST00000261304.2	-	3	424	c.318G>T	c.(316-318)ggG>ggT	p.G106G	GALC_ENST00000393568.4_Silent_p.G83G|GALC_ENST00000554916.1_5'UTR|GALC_ENST00000544807.2_Silent_p.G50G|GALC_ENST00000393569.2_Silent_p.G80G	NM_000153.3|NM_001201401.1	NP_000144.2|NP_001188330.1	P54803	GALC_HUMAN	galactosylceramidase	106					carbohydrate metabolic process|galactosylceramide catabolic process	lysosome	cation binding|galactosylceramidase activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CTGTTGTCTGCCCATCACCAC	0.363													A	88454498	C	A	88454498	2	1	673	1	0	0	0	0	0	0	0	1	6255	726	26	4		4	GALC	14	88454498	Silent	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	22909751	88454498	18895042	22	53065											
FAM83G	644815	broad.mit.edu	37	chr17	18880902	18880902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaccctgacccacctgtgCctccttgtctgtggagcgct	4	10	12	15	1	1	1	0	1	1	0	2	3	2	3	5	2	2	1	5	2	0	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:18880902C>T	ENST00000388995.6	-	5	2300	c.2077G>A	c.(2077-2079)Gca>Aca	p.A693T	SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000585154.2_Missense_Mutation_p.A693T|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.A693T|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	693										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCCACCTGTGCCTCCTTGTCT	0.632													T	18880902	C	T	18880902	3	4	673	1	0	0	0	0	1	0	0	0	5689	739	26	2	402	2	FAM83G	17	18880902	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		18880902	62314308	23	53066											
CDK12	51755	broad.mit.edu	37	chr17	37672031	37672031	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaagcctatttttcaagccaAtctggaactggctcagctag	11	11	9	10	0	3	0	2	0	1	0	3	2	3	1	2	2	4	2	2	2	6	4			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:37672031A>G	ENST00000447079.4	+	9	2849	c.2816A>G	c.(2815-2817)aAt>aGt	p.N939S	CDK12_ENST00000430627.2_Missense_Mutation_p.N939S	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	939	Protein kinase.				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						TTTCAAGCCAATCTGGAACTG	0.403			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			G	37672031	A	G	37672031	3	3	673	1	0	0	0	0	1	0	0	0	3158	101	4	3	2850	3	CDK12	17	37672031	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	18791129	37672031	43523179	24	53067											
KIAA0195	9772	broad.mit.edu	37	chr17	73487406	73487407	+	Frame_Shift_Del	DEL	AG	AG	-																															cctgtgctgtgtggacaaacAggggatcctgtcatggccaa																										TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr17:73487406_73487407delAG	ENST00000314256.7	+	13	1650_1651	c.1256_1257delAG	c.(1255-1257)cagfs	p.Q419fs	KIAA0195_ENST00000579208.1_Frame_Shift_Del_p.Q70fs|KIAA0195_ENST00000375248.5_Frame_Shift_Del_p.Q429fs	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	419					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			GTGGACAAACAGGGGATCCTGT	0.589													-	73487407	AG	-	73487406	7	5	673	1	0	1	0	1	0	0	0	0	8218	188	7	0	1302	0	KIAA0195	17	73487406	Frame_Shift_Del	DEL	AG	TCGA-QH-A6X5-01A-12D-A32B-08	35815375	73487406	7707804	25	53068											
CIC	23152	broad.mit.edu	37	chr19	42791974	42791974	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccaggtgaaggaggccCacttcaaggcccacccagat	10	5	11	15	0	1	2	1	1	0	1	1	3	1	3	5	4	1	0	5	4	2	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:42791974C>G	ENST00000572681.2	+	7	3573	c.3505C>G	c.(3505-3507)Cac>Gac	p.H1169D	CIC_ENST00000575354.2_Missense_Mutation_p.H260D|CIC_ENST00000160740.3_Missense_Mutation_p.H260D			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	260	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAAGGAGGCCCACTTCAAGGC	0.612			"Mis, F, S"		oligodendroglioma								G	42791974	C	G	42791974	3	3	673	1	0	0	0	0	1	0	0	0	3454	594	21	4	800	4	CIC	19	42791974	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		42791974	16337009	26	53069											
CD3EAP	10849	broad.mit.edu	37	chr19	45910448	45910448	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcgctgacgggtccagataCggagctgtggcttattcagg	7	9	16	9	3	1	2	1	1	0	1	2	3	2	3	1	5	2	3	1	5	2	3	rs34721735		TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:45910448C>A	ENST00000309424.3	+	2	607	c.119C>A	c.(118-120)aCg>aAg	p.T40K	CD3EAP_ENST00000589804.1_Missense_Mutation_p.T42K	NM_012099.1	NP_036231.1	O15446	RPA34_HUMAN	CD3e molecule, epsilon associated protein	40					rRNA transcription|transmembrane receptor protein tyrosine kinase signaling pathway	chromosome|RNA polymerase I transcription factor complex	DNA-directed RNA polymerase activity			breast(2)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11		all_neural(266;0.224)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0251)		GGTCCAGATACGGAGCTGTGG	0.602													A	45910448	C	A	45910448	3	1	673	1	0	0	0	0	1	0	0	0	3042	536	19	4	125	4	CD3EAP	19	45910448	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	3118474	45910448	13218535	27	53070											
LILRB2	10288	broad.mit.edu	37	chr19	54782291	54782291	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acggagtggggcatcagctgCtcccgccttggtcagaagga	8	7	15	11	2	2	1	2	0	0	1	3	3	3	3	2	5	2	3	2	5	1	1			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chr19:54782291C>T	ENST00000391748.1	-	7	1208	c.1081G>A	c.(1081-1083)Gca>Aca	p.A361T	LILRB2_ENST00000391746.1_Missense_Mutation_p.A361T|LILRB2_ENST00000391749.4_Missense_Mutation_p.A361T|LILRB2_ENST00000434421.1_Missense_Mutation_p.A245T|LILRB2_ENST00000314446.5_Missense_Mutation_p.A361T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	361	Ig-like C2-type 4.				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GCATCAGCTGCTCCCGCCTTG	0.577													T	54782291	C	T	54782291	3	4	673	1	0	0	0	0	1	0	0	0	8851	797	28	2	747	2	LILRB2	19	54782291	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08	8871843	54782291	4346692	28	53071											
P2RY8	286530	broad.mit.edu	37	chrX	1584769	1584769	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcgcctccgctgctcccggCcgtgcgcctcctccgtgcgc	0	7	12	22	8	0	0	0	0	0	0	4	0	4	0	7	1	3	2	7	1	0	0			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:1584769C>G	ENST00000381297.4	-	2	893	c.683G>C	c.(682-684)gGc>gCc	p.G228A		NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	228						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGCTCCCGGCCGTGCGCCTC	0.642			T	CRLF2	"B-ALL, Downs associated ALL"								G	1584769	C	G	1584769	3	3	673	1	0	0	0	0	1	0	0	0	11431	739	26	4	400	4	P2RY8	23	1584769	Missense_Mutation	SNP	C	TCGA-QH-A6X5-01A-12D-A32B-08		1584769	153685791	29	53072											
GLRA2	2742	broad.mit.edu	37	chrX	14548194	14548194	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggaatgaaccggcagctAgtgaacattttgacagcctt	13	9	10	9	1	0	3	0	3	0	0	0	4	0	4	2	2	4	2	2	2	4	4			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:14548194A>G	ENST00000218075.4	+	1	545	c.15A>G	c.(13-15)ctA>ctG	p.L5L	GLRA2_ENST00000355020.4_Silent_p.L5L|GLRA2_ENST00000443437.2_5'UTR	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	5					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	ACCGGCAGCTAGTGAACATTT	0.378													G	14548194	A	G	14548194	2	3	673	1	0	0	0	0	0	0	0	1	6511	407	15	3		3	GLRA2	23	14548194	Silent	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	12963425	14548194	140722366	30	53073											
PDHA1	5160	broad.mit.edu	37	chrX	19373476	19373476	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actacttccagggccagataTtcgaagcttacaacatggca	13	9	8	11	1	0	1	0	0	0	1	2	2	1	1	2	2	4	2	2	2	5	5			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:19373476T>A	ENST00000379806.5	+	8	872	c.727T>A	c.(727-729)Ttc>Atc	p.F243I	PDHA1_ENST00000540249.1_Missense_Mutation_p.F174I|PDHA1_ENST00000545074.1_Missense_Mutation_p.F212I|PDHA1_ENST00000422285.2_Missense_Mutation_p.F205I	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	205			Y -> N (in PDHE1 deficiency).		glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	GGGCCAGATATTCGAAGCTTA	0.463													A	19373476	T	A	19373476	3	1	673	1	0	0	0	0	1	0	0	0	11740	1493	52	5	778	5	PDHA1	23	19373476	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	4825282	19373476	135897084	31	53074											
KLHL15	80311	broad.mit.edu	37	chrX	24024162	24024162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggatattctgaatgatggTatcggtatgtctccagcgtc	8	13	11	9	3	2	2	0	2	2	0	5	3	2	3	2	3	1	2	2	3	4	4			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:24024162T>C	ENST00000328046.8	-	3	904	c.649A>G	c.(649-651)Acc>Gcc	p.T217A		NM_030624.2	NP_085127.2	Q96M94	KLH15_HUMAN	kelch-like family member 15	217	BACK.									autonomic_ganglia(1)|breast(1)|endometrium(8)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	22						TGAATGATGGTATCGGTATGT	0.448													C	24024162	T	C	24024162	3	2	673	1	0	0	0	0	1	0	0	0	8429	1638	57	3	1173	3	KLHL15	23	24024162	Missense_Mutation	SNP	T	TCGA-QH-A6X5-01A-12D-A32B-08	4650686	24024162	131246398	32	53075											
TFE3	7030	broad.mit.edu	37	chrX	48887951	48887952	+	Frame_Shift_Ins	INS	-	-	C																															ggggagcattctgggcaggtINScccccccctacatggaacgt																										TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:48887951_48887952insC	ENST00000315869.7	-	10	1704_1705	c.1445_1446insG	c.(1444-1446)ggafs	p.G482fs		NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	482					humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						TCTGGGCAGGTCCCCCCCCTAC	0.649			T	"SFPQ, ASPSCR1, PRCC, NONO, CLTC"	"papillary renal, alveolar soft part sarcoma, renal"								C	48887952	-	C	48887951	7	5	673	1	0	1	1	0	0	0	0	0	15900	1654	58	0	285	0	TFE3	23	48887951	Frame_Shift_Ins	INS	-	TCGA-QH-A6X5-01A-12D-A32B-08	24863789	48887951	106382609	33	53076											
CENPI	2491	broad.mit.edu	37	chrX	100400090	100400090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatccatgaactctgtgtctAaactgatccactatgtaggg	11	12	9	9	0	2	2	0	2	2	0	4	3	4	2	2	1	2	1	2	1	5	3			TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:100400090A>G	ENST00000372927.1	+	16	1880	c.1603A>G	c.(1603-1605)Aaa>Gaa	p.K535E	CENPI_ENST00000218507.5_Missense_Mutation_p.K535E|CENPI_ENST00000423383.1_Missense_Mutation_p.K535E	NM_006733.2	NP_006724.2	Q92674	CENPI_HUMAN	centromere protein I	535					CenH3-containing nucleosome assembly at centromere|mitotic prometaphase	cytosol|kinetochore|nucleoplasm	protein binding			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(19)|prostate(1)|skin(2)	30						CTCTGTGTCTAAACTGATCCA	0.398													G	100400090	A	G	100400090	3	3	673	1	0	0	0	0	1	0	0	0	3263	363	13	3	1661	3	CENPI	23	100400090	Missense_Mutation	SNP	A	TCGA-QH-A6X5-01A-12D-A32B-08	51512139	100400090	54870470	34	53077											
TBC1D8B	54885	broad.mit.edu	37	chrX	106117115	106117115	+	Frame_Shift_Del	DEL	T	T	-																															atgaaccagcattggtgaggTtttttgagaaacccatagat																										TCGA-QH-A6X5-01A-12D-A32B-08	TCGA-QH-A6X5-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c03f9927-7659-4b18-ba66-cf2ca08ebca0	a7a5ca94-5e0a-43f3-b61e-705dbfb979d7	g.chrX:106117115delT	ENST00000357242.5	+	21	3457	c.3283delT	c.(3283-3285)tttfs	p.F1096fs	TBC1D8B_ENST00000276175.3_Frame_Shift_Del_p.F1090fs	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	1096						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						ATTGGTGAGGTTTTTTGAGAA	0.408													-	106117115	T	-	106117115	7	5	673	1	0	1	0	1	0	0	0	0	15726	1725	60	0	3431	0	TBC1D8B	23	106117115	Frame_Shift_Del	DEL	T	TCGA-QH-A6X5-01A-12D-A32B-08	5717025	106117115	49153445	35	53078											
HSPG2	3339	broad.mit.edu	37	chr1	22172749	22172749	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cgcagccgtgagccgcgggtCtgaataggggacaggacaga	10	4	17	10	4	1	3	0	2	1	1	1	5	1	5	2	4	2	1	2	4	2	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:22172749C>T	ENST00000374695.3	-	64	8396		c.e64-1		HSPG2_ENST00000430507.1_Splice_Site	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2						angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGCCGCGGGTCTGAATAGGGG	0.647													T	22172749	C	T	22172749	5	4	674	1	0	0	0	0	0	0	1	0	7488	927	32	2	4995	2	HSPG2	1	22172749	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		22172749	227077872	1	53079											
SPATA17	128153	broad.mit.edu	37	chr1	217915374	217915374	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagagaagaaggctaacctCgaaagggaagagaagaaaag	21	2	14	4	1	0	4	0	0	0	4	1	9	0	5	1	2	1	1	1	2	9	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr1:217915374C>T	ENST00000366933.4	+	6	508	c.453C>T	c.(451-453)ctC>ctT	p.L151L		NM_138796.2	NP_620151.1	Q96L03	SPT17_HUMAN	spermatogenesis associated 17	151						cytoplasm	calmodulin binding			endometrium(1)|kidney(1)|large_intestine(9)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(1)	21				OV - Ovarian serous cystadenocarcinoma(81;0.0516)|all cancers(67;0.0891)|GBM - Glioblastoma multiforme(131;0.117)		AGGCTAACCTCGAAAGGGAAG	0.438													T	217915374	C	T	217915374	2	4	674	1	0	0	0	0	0	0	0	1	15098	871	31	1		1	SPATA17	1	217915374	Silent	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	195742625	217915374	31335247	2	53080											
NT5C1B	93034	broad.mit.edu	37	chr2	18765354	18765354	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagacagcttgcagaatacCttgacgaagcggaacgccgg	14	5	12	10	4	0	3	0	1	0	2	0	5	0	4	2	2	5	2	2	2	5	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:18765354C>A	ENST00000304081.4	-	5	991	c.891G>T	c.(889-891)aaG>aaT	p.K297N	NT5C1B_ENST00000359846.2_Splice_Site_p.K357N|NT5C1B_ENST00000600945.1_Splice_Site_p.K357N|NT5C1B-RDH14_ENST00000532967.1_Splice_Site_p.K357N	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				TGCAGAATACCTTGACGAAGC	0.562													A	18765354	C	A	18765354	5	1	674	1	0	0	0	0	0	0	1	0	10762	695	24	4	781	4	NT5C1B	2	18765354	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		18765354	224434019	3	53081											
RGPD4	285190	broad.mit.edu	37	chr2	108487634	108487634	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataggagaagaaggtgaaaaAgttctgtattcacagggggt	15	9	14	3	0	2	3	1	1	1	2	2	4	2	3	0	4	0	2	0	4	6	4			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr2:108487634A>G	ENST00000408999.3	+	20	3251	c.3174A>G	c.(3172-3174)aaA>aaG	p.K1058K	RGPD4_ENST00000354986.4_Silent_p.K1058K	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	1058	RanBD1 1.				intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						AAGGTGAAAAAGTTCTGTATT	0.393													G	108487634	A	G	108487634	2	3	674	1	0	0	0	0	0	0	0	1	13376	69	3	3		3	RGPD4	2	108487634	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	89722280	108487634	134711739	4	53082											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	674	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	100625478	209113112	34086261	5	53083											
TIGIT	201633	broad.mit.edu	37	chr3	114014419	114014419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gacaggcacaatagaaacaaCggggaacatttctgcagaga	17	5	11	8	1	1	2	0	0	1	2	1	5	1	3	0	3	4	2	0	3	5	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:114014419C>T	ENST00000481065.1	+	3	2905	c.290C>T	c.(289-291)aCg>aTg	p.T97M	TIGIT_ENST00000486257.1_Missense_Mutation_p.T30M|TIGIT_ENST00000383671.3_Missense_Mutation_p.T30M			Q495A1	TIGIT_HUMAN	T cell immunoreceptor with Ig and ITIM domains	30	Ig-like V-type.				negative regulation of interleukin-12 production|negative regulation of T cell activation|positive regulation of interleukin-10 production	cell surface|integral to membrane|plasma membrane	protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(1)	17						ATAGAAACAACGGGGAACATT	0.502													T	114014419	C	T	114014419	3	4	674	1	0	0	0	0	1	0	0	0	16002	536	19	1	95	1	TIGIT	3	114014419	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		114014419	84008011	6	53084											
PLXNA1	5361	broad.mit.edu	37	chr3	126708285	126708285	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttcacgtccaagatcgtGcggctctgtgtggacgaccc	6	11	11	13	4	3	1	1	0	2	1	5	3	4	2	2	2	1	1	2	2	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr3:126708285G>A	ENST00000393409.2	+	1	849	c.849G>A	c.(847-849)gtG>gtA	p.V283V	PLXNA1_ENST00000251772.4_Silent_p.V260V	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	283	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CCAAGATCGTGCGGCTCTGTG	0.602													A	126708285	G	A	126708285	2	1	674	1	0	0	0	0	0	0	0	1	12196	1306	46	2		2	PLXNA1	3	126708285	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	12693866	126708285	71314145	7	53085											
DCHS2	54798	broad.mit.edu	37	chr4	155236942	155236942	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccctggtaacaaactcccCtggattttggttttctttca	9	15	6	11	0	2	0	1	0	1	0	3	1	3	1	3	3	3	2	3	3	3	6			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr4:155236942C>G	ENST00000357232.4	-	15	3852	c.3853G>C	c.(3853-3855)Ggg>Cgg	p.G1285R		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 11.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		ACAAACTCCCCTGGATTTTGG	0.368													G	155236942	C	G	155236942	3	3	674	1	0	0	0	0	1	0	0	0	4322	681	24	4	4941	4	DCHS2	4	155236942	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		155236942	35917334	8	53086											
PIK3R1	5295	broad.mit.edu	37	chr5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-																															tttcaagaaaaaagtcgagaAtatgatagattatatgaaga																										TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67589634	ATATGATAGATT	-	67589623	7	5	674	1	0	1	0	1	0	0	0	0	11995	98	4	0	1554	0	PIK3R1	5	67589623	In_Frame_Del	DEL	ATATGATAGATT	TCGA-QH-A6X8-01A-12D-A32B-08		67589623	113325637	9	53087											
KDM3B	51780	broad.mit.edu	37	chr5	137727662	137727662	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcggctttctgtcctccccgGcagatttttcacaggagaac	7	11	10	13	2	2	2	1	0	1	2	4	3	4	2	3	3	1	2	3	3	1	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:137727662G>A	ENST00000314358.5	+	8	2541	c.2341G>A	c.(2341-2343)Gca>Aca	p.A781T	KDM3B_ENST00000394866.1_Missense_Mutation_p.A437T|KDM3B_ENST00000542866.1_Intron	NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	781					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GTCCTCCCCGGCAGATTTTTC	0.537													A	137727662	G	A	137727662	3	1	674	1	0	0	0	0	1	0	0	0	8185	1203	42	2	2371	2	KDM3B	5	137727662	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	70138039	137727662	43187598	10	53088											
PCDHB1	29930	broad.mit.edu	37	chr5	140432022	140432022	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acattgacattcaagctacaGatggtggaggcctctctgcc	10	10	10	11	0	2	2	1	1	1	1	3	3	2	3	2	3	3	1	2	3	2	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr5:140432022G>C	ENST00000306549.3	+	1	1044	c.967G>C	c.(967-969)Gat>Cat	p.D323H		NM_013340.2	NP_037472.2	Q9Y5F3	PCDB1_HUMAN		323	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|liver(1)|lung(13)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	53			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAAGCTACAGATGGTGGAGG	0.488													C	140432022	G	C	140432022	3	2	674	1	0	0	0	0	1	0	0	0	11610	942	33	4	969	4	PCDHB1	5	140432022	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	2704360	140432022	40483238	11	53089											
DSP	1832	broad.mit.edu	37	chr6	7580378	7580378	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctggaggaggctgccaagAccattcaggacaaaaataag	15	5	11	10	0	1	1	1	0	0	1	1	4	1	4	3	4	1	1	3	4	4	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:7580378A>G	ENST00000379802.3	+	23	4296	c.3955A>G	c.(3955-3957)Acc>Gcc	p.T1319A	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1319	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GGCTGCCAAGACCATTCAGGA	0.517													G	7580378	A	G	7580378	3	3	674	1	0	0	0	0	1	0	0	0	4820	275	10	3	4045	3	DSP	6	7580378	Missense_Mutation	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08		7580378	163534689	12	53090											
DNAH8	1769	broad.mit.edu	37	chr6	38897333	38897333	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacacacttggaggacaGcctttccttgggccgacccc	7	8	10	16	2	0	0	0	0	0	0	2	3	1	2	5	3	1	1	5	3	0	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:38897333G>C	ENST00000359357.3	+	73	10768	c.10514G>C	c.(10513-10515)aGc>aCc	p.S3505T	RP1-207H1.3_ENST00000418399.1_RNA|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000441566.1_Missense_Mutation_p.S3469T|RP1-207H1.3_ENST00000453417.1_RNA|DNAH8_ENST00000449981.2_Missense_Mutation_p.S3722T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTGGAGGACAGCCTTTCCTTG	0.418													C	38897333	G	C	38897333	3	2	674	1	0	0	0	0	1	0	0	0	4646	971	34	4	10796	4	DNAH8	6	38897333	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	31316955	38897333	132217734	13	53091											
MDFI	4188	broad.mit.edu	37	chr6	41621201	41621201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtggctctggcgagtgtgCcgactgcgacctgccctgcg	3	9	15	14	4	1	0	0	0	1	0	1	3	1	0	3	2	4	1	3	2	0	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:41621201C>T	ENST00000373050.4	+	4	633	c.446C>T	c.(445-447)gCc>gTc	p.A149V				Q99750	MDFI_HUMAN	MyoD family inhibitor	210					cytoplasmic sequestering of transcription factor|dorsal/ventral axis specification|negative regulation of DNA binding|negative regulation of transcription from RNA polymerase II promoter|negative regulation of Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|prostate(2)|skin(1)|urinary_tract(1)	8	Ovarian(28;0.0327)|Colorectal(47;0.121)		Colorectal(64;0.0123)|COAD - Colon adenocarcinoma(64;0.0264)|KIRC - Kidney renal clear cell carcinoma(1;0.138)			GGCGAGTGTGCCGACTGCGAC	0.662													T	41621201	C	T	41621201	3	4	674	1	0	0	0	0	1	0	0	0	9479	739	26	2	643	2	MDFI	6	41621201	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	2723868	41621201	129493866	14	53092											
SUPT3H	8464	broad.mit.edu	37	chr6	45289563	45289563	+	Frame_Shift_Del	DEL	T	T	-																															cattcagcagtggaaggataTtgtgataacaatagggaaaa																										TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:45289563delT	ENST00000371460.1	-	4	421	c.104delA	c.(103-105)aatfs	p.N35fs	SUPT3H_ENST00000459689.1_Intron|SUPT3H_ENST00000306867.5_Intron|SUPT3H_ENST00000371459.1_Intron|SUPT3H_ENST00000371461.2_Frame_Shift_Del_p.N35fs	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	346					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						TGGAAGGATATTGTGATAACA	0.343													-	45289563	T	-	45289563	7	5	674	1	0	1	0	1	0	0	0	0	15493	1493	52	0	922	0	SUPT3H	6	45289563	Frame_Shift_Del	DEL	T	TCGA-QH-A6X8-01A-12D-A32B-08	3668362	45289563	125825504	15	53093											
FAM83B	222584	broad.mit.edu	37	chr6	54805863	54805863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagttagacaaccagaaaaGcccaaagaagatttgctgaa	18	6	9	8	1	0	5	0	1	0	4	0	6	0	5	2	0	3	2	2	0	7	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:54805863G>A	ENST00000306858.7	+	5	2210	c.2094G>A	c.(2092-2094)aaG>aaA	p.K698K		NM_001010872.1	NP_001010872.1	Q5T0W9	FA83B_HUMAN	family with sequence similarity 83, member B	698								p.K698N(1)		autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(28)|ovary(6)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	71	Lung NSC(77;0.0178)|Renal(3;0.122)					AACCAGAAAAGCCCAAAGAAG	0.393													A	54805863	G	A	54805863	2	1	674	1	0	0	0	0	0	0	0	1	5684	962	34	2		2	FAM83B	6	54805863	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	9516300	54805863	116309204	16	53094											
COL12A1	1303	broad.mit.edu	37	chr6	75899313	75899313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggaattttttttattgcagCaagaagttcatccctttggt	9	18	8	6	0	1	1	1	0	0	1	2	2	2	2	1	2	2	3	1	2	4	7			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:75899313C>G	ENST00000322507.8	-	6	922	c.613G>C	c.(613-615)Gct>Cct	p.A205P	COL12A1_ENST00000416123.2_Missense_Mutation_p.A205P|COL12A1_ENST00000483888.2_Missense_Mutation_p.A205P|COL12A1_ENST00000345356.6_Intron	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	205	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTTATTGCAGCAAGAAGTTCA	0.333													G	75899313	C	G	75899313	3	3	674	1	0	0	0	0	1	0	0	0	3700	710	25	4	8822	4	COL12A1	6	75899313	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	21093450	75899313	95215754	17	53095											
TCP10L2	401285	broad.mit.edu	37	chr6	167592524	167592524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatccatcttcccgaagtcTgcaaaactccggtggcagaa	11	8	9	13	2	2	1	0	0	2	1	5	2	5	1	3	2	2	3	3	2	4	1	rs2989545	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr6:167592524T>C	ENST00000366832.2	+	6	814	c.683T>C	c.(682-684)cTg>cCg	p.L228P		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	228										endometrium(1)|kidney(2)|lung(3)	6						TCCCGAAGTCTGCAAAACTCC	0.602													C	167592524	T	C	167592524	3	2	674	1	0	0	0	0	1	0	0	0	15812	1580	55	3	701	3	TCP10L2	6	167592524	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	91693211	167592524	3522543	18	53096											
RADIL	55698	broad.mit.edu	37	chr7	4843373	4843373	+	Frame_Shift_Del	DEL	T	T	-																															gtggggggttttcgtaggacTccagaacatcctctgcaggg																										TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:4843373delT	ENST00000399583.3	-	11	2490	c.2303delA	c.(2302-2304)gagfs	p.E768fs	RADIL_ENST00000538469.1_Frame_Shift_Del_p.E528fs|RADIL_ENST00000536091.1_3'UTR	NM_018059.4	NP_060529.4	Q96JH8	RADIL_HUMAN	Ras association and DIL domains	768					cell adhesion|multicellular organismal development|signal transduction		protein binding			NS(1)|biliary_tract(2)|breast(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(22)|pancreas(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)|OV - Ovarian serous cystadenocarcinoma(56;7.41e-15)		TTCGTAGGACTCCAGAACATC	0.642													-	4843373	T	-	4843373	7	5	674	1	0	1	0	1	0	0	0	0	13085	1551	54	0	944	0	RADIL	7	4843373	Frame_Shift_Del	DEL	T	TCGA-QH-A6X8-01A-12D-A32B-08		4843373	154295290	19	53097											
KDELR2	11014	broad.mit.edu	37	chr7	6505724	6505724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tttgtaatgtacaagtagaaGaagtcacagtataggatggt	15	12	11	3	0	1	2	1	0	0	2	1	3	1	3	0	2	1	4	0	2	8	6			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:6505724G>A	ENST00000258739.4	-	4	766	c.582C>T	c.(580-582)ttC>ttT	p.F194F	KDELR2_ENST00000490996.1_Intron|DAGLB_ENST00000436575.1_Intron|KDELR2_ENST00000463747.1_Intron	NM_006854.3	NP_006845.1	P33947	ERD22_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 2	194					intracellular protein transport|protein retention in ER lumen|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	KDEL sequence binding|protein binding|receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	10		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)		ACAAGTAGAAGAAGTCACAGT	0.478													A	6505724	G	A	6505724	2	1	674	1	0	0	0	0	0	0	0	1	8178	933	33	2		2	KDELR2	7	6505724	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	1662351	6505724	152632939	20	53098											
CALN1	83698	broad.mit.edu	37	chr7	71252776	71252776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgctactccatgccgctcCggagtatctggttggctgca	5	11	12	13	2	1	0	0	0	1	0	3	1	3	1	3	3	4	7	3	3	2	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:71252776C>T	ENST00000395275.2	-	7	1158	c.770G>A	c.(769-771)cGg>cAg	p.R257Q	CALN1_ENST00000405452.2_Missense_Mutation_p.R215Q|CALN1_ENST00000395276.2_Missense_Mutation_p.R215Q|CALN1_ENST00000329008.5_Missense_Mutation_p.R215Q|CALN1_ENST00000431984.1_Missense_Mutation_p.R215Q|CALN1_ENST00000412588.1_Missense_Mutation_p.R257Q	NM_031468.3	NP_113656.2	Q9BXU9	CABP8_HUMAN	calneuron 1	215						Golgi apparatus|integral to membrane|perinuclear region of cytoplasm|plasma membrane	calcium ion binding			biliary_tract(1)|breast(1)|endometrium(3)|large_intestine(6)|lung(19)|skin(2)	32		all_cancers(73;0.069)|Lung NSC(55;0.0658)|all_lung(88;0.0912)|all_epithelial(88;0.161)				CATGCCGCTCCGGAGTATCTG	0.582													T	71252776	C	T	71252776	3	4	674	1	0	0	0	0	1	0	0	0	2617	652	23	1	19	1	CALN1	7	71252776	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	64747052	71252776	87885887	21	53099											
UBN2	254048	broad.mit.edu	37	chr7	138968722	138968722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggtgtcacagatctccaCgcagggtttcaaatctccct	9	12	8	12	1	4	1	2	0	2	1	6	1	4	1	2	2	0	2	2	2	2	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr7:138968722C>T	ENST00000473989.3	+	15	3071	c.3071C>T	c.(3070-3072)aCg>aTg	p.T1024M	UBN2_ENST00000288561.8_Missense_Mutation_p.T941M	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2		Ser-rich.									NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						CAGATCTCCACGCAGGGTTTC	0.542													T	138968722	C	T	138968722	3	4	674	1	0	0	0	0	1	0	0	0	16995	536	19	1	3129	1	UBN2	7	138968722	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	67715946	138968722	20169941	22	53100											
BLK	640	broad.mit.edu	37	chr8	11400821	11400821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccccctgaaggtcagcGcccaagacaaggacgccccg	10	2	13	16	3	1	2	1	1	0	1	1	4	1	4	5	3	2	0	5	3	3	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:11400821G>A	ENST00000259089.4	+	2	680	c.88G>A	c.(88-90)Gcc>Acc	p.A30T	BLK_ENST00000529894.1_Intron	NM_001715.2	NP_001706.2	P51451	BLK_HUMAN	B lymphoid tyrosine kinase	30					intracellular protein kinase cascade|positive regulation of insulin secretion		ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(4)|stomach(1)	27			STAD - Stomach adenocarcinoma(15;0.00391)	COAD - Colon adenocarcinoma(149;0.207)		GAAGGTCAGCGCCCAAGACAA	0.562													A	11400821	G	A	11400821	3	1	674	1	0	0	0	0	1	0	0	0	1450	1087	38	1	90	1	BLK	8	11400821	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		11400821	134963201	23	53101											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-																															aaatctgggtcttcctactaAagaagaagaagaagatgatg																										TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				-	30945379	AAG	-	30945377	7	5	674	1	0	1	0	1	0	0	0	0	17504	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-QH-A6X8-01A-12D-A32B-08	19544556	30945377	115418645	24	53102											
NBN	4683	broad.mit.edu	37	chr8	90967619	90967619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatttagttggtgaaagcTgatagtttgggattctcatc	10	15	11	5	0	1	2	1	2	1	0	3	3	1	3	0	2	1	4	0	2	4	6			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr8:90967619T>C	ENST00000265433.3	-	10	1443	c.1289A>G	c.(1288-1290)cAg>cGg	p.Q430R	NBN_ENST00000409330.1_Missense_Mutation_p.Q348R	NM_002485.4	NP_002476.2	O60934	NBN_HUMAN	nibrin	430					cell cycle arrest|DNA damage response, signal transduction by p53 class mediator|DNA duplex unwinding|double-strand break repair via homologous recombination|meiosis|mitotic cell cycle G1/S transition checkpoint|mitotic cell cycle G2/M transition DNA damage checkpoint|positive regulation of kinase activity|positive regulation of protein autophosphorylation|regulation of DNA-dependent DNA replication initiation|telomere maintenance	Mre11 complex|nuclear chromosome, telomeric region|nuclear inclusion body|nucleolus|nucleoplasm	protein N-terminus binding|transcription factor binding			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(2)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(11;0.0344)			TGGTGAAAGCTGATAGTTTGG	0.393								Homologous recombination					C	90967619	T	C	90967619	3	2	674	1	0	0	0	0	1	0	0	0	10267	1580	55	3	1003	3	NBN	8	90967619	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	60022242	90967619	55396403	25	53103											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-																															tccattacatcacagtggggCtcctcctcctcctccttccc																										TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													-	81070789	CTC	-	81070787	7	5	674	1	0	1	0	1	0	0	0	0	17797	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-QH-A6X8-01A-12D-A32B-08		81070787	54463960	26	53104											
AGAP11	119385	broad.mit.edu	37	chr10	88753182	88753182	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcagactccactagagccGccaccaatagtgatagtggt	12	8	10	11	1	1	3	1	1	0	2	2	4	2	3	4	1	1	0	4	1	4	3	rs146841657	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr10:88753182G>A	ENST00000444431.1	+	0	128				RP11-96C23.5_ENST00000433214.2_RNA			Q8TF27	AGA11_HUMAN	ankyrin repeat and GTPase domain Arf GTPase activating protein 11						regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding										CACTAGAGCCGCCACCAATAG	0.408													A	88753182	G	A	88753182	1	1	674	0	1	0	0	0	0	0	0	0	367	1102	38	1		1	AGAP11	10	88753182	RNA	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	7682395	88753182	46781565	27	53105											
PIK3C2A	5286	broad.mit.edu	37	chr11	17156657	17156657	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tttaaagatttaaacacataCccctagttgaactcctgcta	14	13	4	10	0	0	2	0	1	0	1	1	2	1	2	3	0	4	2	3	0	8	8			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:17156657C>T	ENST00000265970.7	-	9	1897		c.e9+1		PIK3C2A_ENST00000540361.1_Splice_Site|PIK3C2A_ENST00000531428.1_Intron	NM_002645.2	NP_002636.2	O00443	P3C2A_HUMAN	phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha						cell communication|phosphatidylinositol biosynthetic process|phosphatidylinositol-mediated signaling	clathrin-coated vesicle|Golgi apparatus|nucleus|phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol binding|phosphatidylinositol-4-phosphate 3-kinase activity			central_nervous_system(4)|endometrium(5)|kidney(5)|large_intestine(7)|lung(24)|ovary(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	58					Phosphatidylserine(DB00144)	TAAACACATACCCCTAGTTGA	0.343													T	17156657	C	T	17156657	5	4	674	1	0	0	0	0	0	0	1	0	11986	521	18	2	3258	2	PIK3C2A	11	17156657	Splice_Site	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08		17156657	117849859	28	53106											
CCND1	595	broad.mit.edu	37	chr11	69465895	69465895	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctctcaggactgcctcCgggcctgccaggagcagatc	6	8	11	16	1	2	1	1	0	2	1	6	3	3	3	4	3	3	1	4	3	0	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:69465895C>T	ENST00000227507.2	+	5	960	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	245					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GGACTGCCTCCGGGCCTGCCA	0.667			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			T	69465895	C	T	69465895	3	4	674	1	0	0	0	0	1	0	0	0	2946	643	23	1	751	1	CCND1	11	69465895	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	52309238	69465895	65540621	29	53107											
NCAPD3	23310	broad.mit.edu	37	chr11	134054559	134054559	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgctggtgtctctgcagaTgctctacaaagcctctgcaa	8	12	9	12	0	4	1	0	0	4	1	5	1	4	1	1	1	6	4	1	1	3	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr11:134054559T>C	ENST00000534548.2	-	19	2488	c.2424A>G	c.(2422-2424)gcA>gcG	p.A808A	RP11-700F16.3_ENST00000531710.1_RNA	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	808					cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		TCTCTGCAGATGCTCTACAAA	0.463													C	134054559	T	C	134054559	2	2	674	1	0	0	0	0	0	0	0	1	10282	1451	51	3		3	NCAPD3	11	134054559	Silent	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	64588664	134054559	951957	30	53108											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G																															aaacaagatcggaggccgtaINSgtttattgtggtgctggaag																								rs141646579	by1000genomes	TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													G	7080211	-	G	7080210	8	5	674	1	0	1	1	0	0	0	1	0	5131	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-QH-A6X8-01A-12D-A32B-08		7080210	126771685	31	53109											
KRT73	319101	broad.mit.edu	37	chr12	53012113	53012113	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccatagcctcctgcccaccCactgccactggccacattga	8	8	6	19	0	0	1	0	1	0	0	2	1	2	1	7	1	3	0	7	1	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr12:53012113C>T	ENST00000305748.3	-	1	230	c.196G>A	c.(196-198)Ggg>Agg	p.G66R		NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	66	Gly-rich.|Head.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCTGCCCACCCACTGCCACTG	0.642													T	53012113	C	T	53012113	3	4	674	1	0	0	0	0	1	0	0	0	8544	594	21	2	1462	2	KRT73	12	53012113	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	45931903	53012113	80839782	32	53110											
MYH7	4625	broad.mit.edu	37	chr14	23898247	23898247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccagggtggcattgatgcGcgtcaccatccagttgaaca	9	9	11	12	2	1	2	1	2	0	0	3	2	3	2	3	2	2	2	3	2	1	2	rs148808089		TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr14:23898247G>A	ENST00000355349.3	-	14	1486	c.1324C>T	c.(1324-1326)Cgc>Tgc	p.R442C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	442	Myosin head-like.				adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		GCATTGATGCGCGTCACCATC	0.557													A	23898247	G	A	23898247	3	1	674	1	0	0	0	0	1	0	0	0	10115	1087	38	1	4591	1	MYH7	14	23898247	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		23898247	83451293	33	53111											
ARNT2	9915	broad.mit.edu	37	chr15	80767431	80767431	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagggcgagtgatttatgtGtctgactccgtcacccctgt	7	12	11	11	2	2	2	1	2	1	0	3	3	3	2	3	1	0	0	3	1	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr15:80767431G>T	ENST00000533983.1	+	6	795	c.456G>T	c.(454-456)gtG>gtT	p.V152V	ARNT2_ENST00000303329.4_Silent_p.V163V|ARNT2_ENST00000531595.3_3'UTR|ARNT2_ENST00000527771.1_Silent_p.V152V			Q9HBZ2	ARNT2_HUMAN	aryl-hydrocarbon receptor nuclear translocator 2	163	PAS 1.				central nervous system development|in utero embryonic development|response to hypoxia		aryl hydrocarbon receptor binding|DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|pancreas(2)|prostate(2)|skin(1)	35			BRCA - Breast invasive adenocarcinoma(143;0.134)			TGATTTATGTGTCTGACTCCG	0.488													T	80767431	G	T	80767431	2	4	674	1	0	0	0	0	0	0	0	1	971	1364	48	4		4	ARNT2	15	80767431	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		80767431	21763961	34	53112											
ACSM5	54988	broad.mit.edu	37	chr16	20451165	20451165	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactccagcctactcctctcAtgacccagaggcactaacgc	10	8	6	17	1	1	2	1	1	1	1	4	2	3	2	4	1	4	1	4	1	3	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr16:20451165A>C	ENST00000331849.4	+	13	1727	c.1580A>C	c.(1579-1581)cAt>cCt	p.H527P		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	527					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						TACTCCTCTCATGACCCAGAG	0.473													C	20451165	A	C	20451165	3	2	674	1	0	0	0	0	1	0	0	0	187	217	8	5	1626	5	ACSM5	16	20451165	Missense_Mutation	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08		20451165	69903588	35	53113											
NEURL4	84461	broad.mit.edu	37	chr17	7231124	7231124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagccccccttcaggcccGtggcactgcttggaaagtcc	7	7	11	16	2	1	0	1	0	0	0	2	2	2	1	5	3	2	2	5	3	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:7231124G>A	ENST00000399464.2	-	2	377	c.362C>T	c.(361-363)aCg>aTg	p.T121M	NEURL4_ENST00000315614.7_Missense_Mutation_p.T121M|NEURL4_ENST00000570460.1_Missense_Mutation_p.T121M	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTTCAGGCCCGTGGCACTGCT	0.602													A	7231124	G	A	7231124	3	1	674	1	0	0	0	0	1	0	0	0	10423	1145	40	1	4438	1	NEURL4	17	7231124	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		7231124	73964086	36	53114											
MYH1	4619	broad.mit.edu	37	chr17	10397924	10397924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacttttctctcatgtttgcGtagacccttgacagcttcaa	8	15	6	12	1	3	2	2	1	1	1	4	2	3	2	1	0	2	3	1	0	2	6			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:10397924G>A	ENST00000226207.5	-	38	5627	c.5533C>T	c.(5533-5535)Cgc>Tgc	p.R1845C	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1845				R -> H (in Ref. 4; CAA27380).		muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCATGTTTGCGTAGACCCTTG	0.393													A	10397924	G	A	10397924	3	1	674	1	0	0	0	0	1	0	0	0	10105	1145	40	1	298	1	MYH1	17	10397924	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	3166800	10397924	70797286	37	53115											
MPRIP	23164	broad.mit.edu	37	chr17	17077304	17077304	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcagaagtgcctggagaatgCccatctggcccaggcgctgg	8	6	15	12	1	1	2	0	0	1	2	1	3	1	2	3	4	2	2	3	4	2	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:17077304C>T	ENST00000395811.5	+	18	2593	c.2504C>T	c.(2503-2505)gCc>gTc	p.A835V	RP11-45M22.3_ENST00000584203.1_RNA|MPRIP_ENST00000444976.1_Missense_Mutation_p.A797V|MPRIP_ENST00000341712.4_Missense_Mutation_p.A835V|MPRIP_ENST00000395804.3_Missense_Mutation_p.A835V	NM_015134.3|NM_201274.3	NP_055949.2|NP_958431.2	Q6WCQ1	MPRIP_HUMAN	myosin phosphatase Rho interacting protein	835	Interaction with PPP1R12A.					cytoplasm|cytoskeleton	actin binding			biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	31						CTGGAGAATGCCCATCTGGCC	0.662													T	17077304	C	T	17077304	3	4	674	1	0	0	0	0	1	0	0	0	9819	739	26	2	2574	2	MPRIP	17	17077304	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	6679380	17077304	64117906	38	53116											
KIF18B	146909	broad.mit.edu	37	chr17	43003541	43003541	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggttgctagggcacaggggActcaagggcagctctgcagg	8	6	17	10	1	2	0	1	0	1	0	2	1	2	1	0	6	3	6	0	6	2	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:43003541A>G	ENST00000593135.1	-	16	2563	c.2466T>C	c.(2464-2466)agT>agC	p.S822S	KIF18B_ENST00000339151.4_Silent_p.S825S|KIF18B_ENST00000438933.2_3'UTR|KIF18B_ENST00000587309.1_3'UTR	NM_001265577.1	NP_001252506.1			kinesin family member 18B											breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	21		Prostate(33;0.155)				GGCACAGGGGACTCAAGGGCA	0.642													G	43003541	A	G	43003541	2	3	674	1	0	0	0	0	0	0	0	1	8339	272	10	3		3	KIF18B	17	43003541	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	25926237	43003541	38191669	39	53117											
BCAS3	54828	broad.mit.edu	37	chr17	59024689	59024689	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccaccatctgtatactctTcacaggggagaaactgaagc	12	9	9	11	0	3	2	1	1	2	1	4	3	4	2	2	2	3	1	2	2	4	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr17:59024689T>C	ENST00000589222.1	+	14	1265	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	BCAS3_ENST00000588462.1_Silent_p.L399L|BCAS3_ENST00000585744.1_Silent_p.L170L|BCAS3_ENST00000407086.3_Silent_p.L399L|BCAS3_ENST00000390652.5_Silent_p.L399L|BCAS3_ENST00000588874.1_Silent_p.L170L|BCAS3_ENST00000408905.3_Silent_p.L399L			Q9H6U6	BCAS3_HUMAN	breast carcinoma amplified sequence 3	399						nucleus				NS(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(24)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44			BRCA - Breast invasive adenocarcinoma(1;3.11e-12)|Epithelial(12;8.2e-07)|all cancers(12;5.33e-06)			TGTATACTCTTCACAGGGGAG	0.408													C	59024689	T	C	59024689	2	2	674	1	0	0	0	0	0	0	0	1	1357	1770	62	3		3	BCAS3	17	59024689	Silent	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	16021148	59024689	22170521	40	53118											
MUC16	94025	broad.mit.edu	37	chr19	9058490	9058490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagattctgtcatgatGggagaggtagacagcctggt	9	11	14	7	0	3	4	1	1	2	3	3	5	3	4	1	3	2	2	1	3	1	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:9058490G>A	ENST00000397910.4	-	3	29159	c.28956C>T	c.(28954-28956)ccC>ccT	p.P9652P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	9654	Ser-rich.|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						CTGTCATGATGGGAGAGGTAG	0.488													A	9058490	G	A	9058490	2	1	674	1	0	0	0	0	0	0	0	1	10049	1335	47	2		2	MUC16	19	9058490	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		9058490	50070493	41	53119											
CIC	23152	broad.mit.edu	37	chr19	42791722	42791722	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaaggaccacatccggcggcCcatgaatgccttcatgatct	10	8	10	13	2	2	2	1	2	1	0	3	4	3	3	4	3	1	0	4	3	2	1			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chr19:42791722C>T	ENST00000572681.2	+	6	3403	c.3335C>T	c.(3334-3336)cCc>cTc	p.P1112L	CIC_ENST00000575354.2_Missense_Mutation_p.P203L|CIC_ENST00000160740.3_Missense_Mutation_p.P203L			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	203	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATCCGGCGGCCCATGAATGCC	0.627			"Mis, F, S"		oligodendroglioma								T	42791722	C	T	42791722	3	4	674	1	0	0	0	0	1	0	0	0	3454	623	22	2	626	2	CIC	19	42791722	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	33733232	42791722	16337261	42	53120											
GLRA2	2742	broad.mit.edu	37	chrX	14627180	14627180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatattatttgatccagatGtacatcccaagcctgcttat	11	14	7	9	0	0	2	0	1	0	1	2	3	2	3	3	1	3	2	3	1	5	5			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:14627180G>A	ENST00000218075.4	+	7	1313	c.783G>A	c.(781-783)atG>atA	p.M261I	GLRA2_ENST00000355020.4_Missense_Mutation_p.M261I|GLRA2_ENST00000443437.2_Missense_Mutation_p.M172I	NM_002063.3	NP_002054.1	P23416	GLRA2_HUMAN	glycine receptor, alpha 2	261					neuropeptide signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(22)|ovary(1)|prostate(1)|skin(2)	37	Hepatocellular(33;0.128)				Ethanol(DB00898)|Glycine(DB00145)	TGATCCAGATGTACATCCCAA	0.443													A	14627180	G	A	14627180	3	1	674	1	0	0	0	0	1	0	0	0	6511	1377	48	2	881	2	GLRA2	23	14627180	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08		14627180	140643380	43	53121											
PDK3	5165	broad.mit.edu	37	chrX	24552177	24552177	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agggatgcttcaaaatacaaAgcaaaacagtaatataccac	20	7	6	8	0	1	0	1	0	0	0	1	1	1	1	1	1	5	3	1	1	9	5			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:24552177A>G	ENST00000441463.2	+	11	1209	c.1209A>G	c.(1207-1209)aaA>aaG	p.K403K	PDK3_ENST00000379162.4_Silent_p.K403K	NM_001142386.2	NP_001135858.1	Q15120	PDK3_HUMAN	pyruvate dehydrogenase kinase, isozyme 3	403					glucose metabolic process|peptidyl-histidine phosphorylation|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	ATP binding|protein binding|pyruvate dehydrogenase (acetyl-transferring) kinase activity|two-component sensor activity			NS(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						CAAAATACAAAGCAAAACAGT	0.428													G	24552177	A	G	24552177	2	3	674	1	0	0	0	0	0	0	0	1	11753	69	3	3		3	PDK3	23	24552177	Silent	SNP	A	TCGA-QH-A6X8-01A-12D-A32B-08	9924997	24552177	130718383	44	53122											
MAGEB6	158809	broad.mit.edu	37	chrX	26212016	26212016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgagaaacgccaagagaCcaatggtcagccacagggtc	13	5	12	11	1	1	2	1	1	0	2	2	4	1	2	3	2	2	0	3	2	3	0			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:26212016C>T	ENST00000379034.1	+	2	202	c.53C>T	c.(52-54)aCc>aTc	p.T18I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	18										breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCCAAGAGACCAATGGTCAG	0.572													T	26212016	C	T	26212016	3	4	674	1	0	0	0	0	1	0	0	0	9254	507	18	2	55	2	MAGEB6	23	26212016	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	1659839	26212016	129058544	45	53123											
ATRX	546	broad.mit.edu	37	chrX	76855029	76855029	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctactatcttttttccccTttttcccttttttcttcttt	3	25	1	12	0	3	0	0	0	3	0	5	0	5	0	3	0	2	1	3	0	2	12			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:76855029T>C	ENST00000373344.5	-	25	6021	c.5807A>G	c.(5806-5808)aAg>aGg	p.K1936R	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.K1898R	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1936	Poly-Lys.				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.K1936T(2)|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)	TTTTTTCCCCTTTTTCCCTTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76855029	T	C	76855029	3	2	674	1	0	0	0	0	1	0	0	0	1213	1609	56	3	1715	3	ATRX	23	76855029	Missense_Mutation	SNP	T	TCGA-QH-A6X8-01A-12D-A32B-08	50643013	76855029	78415531	46	53124											
DACH2	117154	broad.mit.edu	37	chrX	86069792	86069792	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcaagtggagcaggcaCttaagcaagccaccactagt	13	5	13	10	0	0	0	0	0	0	0	0	2	0	2	2	3	4	4	2	3	4	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:86069792C>G	ENST00000373131.1	+	9	1763	c.1600C>G	c.(1600-1602)Ctt>Gtt	p.L534V	DACH2_ENST00000373125.4_Missense_Mutation_p.L547V|DACH2_ENST00000510272.1_Missense_Mutation_p.L328V|DACH2_ENST00000508860.1_Missense_Mutation_p.L380V	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	547					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						GGAGCAGGCACTTAAGCAAGC	0.428													G	86069792	C	G	86069792	3	3	674	1	0	0	0	0	1	0	0	0	4255	565	20	4	1677	4	DACH2	23	86069792	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	9214763	86069792	69200768	47	53125											
CXorf57	55086	broad.mit.edu	37	chrX	105905388	105905388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatcctgaaagtattccaCggaaatttatgtttgaacac	13	15	6	7	1	0	2	0	2	0	0	2	3	2	3	2	1	1	2	2	1	6	7			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:105905388C>T	ENST00000372548.4	+	12	2231	c.2122C>T	c.(2122-2124)Cgg>Tgg	p.R708W	CXorf57_ENST00000372544.2_Missense_Mutation_p.R611W|CXorf57_ENST00000497124.1_3'UTR	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	708										NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						AAGTATTCCACGGAAATTTAT	0.408													T	105905388	C	T	105905388	3	4	674	1	0	0	0	0	1	0	0	0	4146	527	19	1	2168	1	CXorf57	23	105905388	Missense_Mutation	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	19835596	105905388	49365172	48	53126											
LONRF3	79836	broad.mit.edu	37	chrX	118151572	118151572	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaagccgagctcagctcccCttcctagcaatgaggtcctt	9	9	9	14	1	1	1	1	1	0	0	4	3	4	1	5	1	4	3	5	1	3	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:118151572C>G	ENST00000304778.7	+	10	2239	c.2076C>G	c.(2074-2076)ccC>ccG	p.P692P	LONRF3_ENST00000371628.3_Silent_p.P733P|LONRF3_ENST00000472173.1_3'UTR|LONRF3_ENST00000422289.2_Silent_p.P477P	NM_024778.4	NP_079054.3	Q496Y0	LONF3_HUMAN	LON peptidase N-terminal domain and ring finger 3	733	Lon.				proteolysis		ATP-dependent peptidase activity|protein binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	36						CTCAGCTCCCCTTCCTAGCAA	0.512													G	118151572	C	G	118151572	2	3	674	1	0	0	0	0	0	0	0	1	8966	668	24	4		4	LONRF3	23	118151572	Silent	SNP	C	TCGA-QH-A6X8-01A-12D-A32B-08	12246184	118151572	37118988	49	53127											
IGSF1	3547	broad.mit.edu	37	chrX	130412696	130412696	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagttggtctctgcccacaGctcaggcttaggggttggca	8	10	13	10	0	2	0	1	0	1	0	3	0	2	0	1	5	2	5	1	5	2	3			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:130412696G>A	ENST00000370904.1	-	18	2663	c.1753C>T	c.(1753-1755)Ctg>Ttg	p.L585L	IGSF1_ENST00000361420.3_Silent_p.L594L|IGSF1_ENST00000370910.1_Silent_p.L585L|IGSF1_ENST00000370903.3_Silent_p.L599L			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	594					regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						TCTGCCCACAGCTCAGGCTTA	0.537													A	130412696	G	A	130412696	2	1	674	1	0	0	0	0	0	0	0	1	7654	962	34	2		2	IGSF1	23	130412696	Silent	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	12261124	130412696	24857864	50	53128											
MAGEA8	4107	broad.mit.edu	37	chrX	149013734	149013734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatctgggaagcattgagtGtgatggggctgtatgatggg	9	11	17	4	0	1	3	0	3	1	0	1	4	1	4	0	4	1	3	0	4	3	2			TCGA-QH-A6X8-01A-12D-A32B-08	TCGA-QH-A6X8-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	71e95c57-ab3b-4957-80b4-d09e1dc5bf5b	62e83b8b-1d23-4ca1-8b92-866a07af39fd	g.chrX:149013734G>C	ENST00000535454.1	+	4	1237	c.688G>C	c.(688-690)Gtg>Ctg	p.V230L	MAGEA8_ENST00000286482.1_Missense_Mutation_p.V230L|MAGEA8_ENST00000542674.1_Missense_Mutation_p.V230L	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	230	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					AGCATTGAGTGTGATGGGGCT	0.577													C	149013734	G	C	149013734	3	2	674	1	0	0	0	0	1	0	0	0	9244	1377	48	4	690	4	MAGEA8	23	149013734	Missense_Mutation	SNP	G	TCGA-QH-A6X8-01A-12D-A32B-08	18601038	149013734	6256826	51	53129											
SARS	6301	broad.mit.edu	37	chr1	109773620	109773620	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaagggggccgtggtggctGggagtcgagggtacttcttg	7	9	19	6	2	1	0	0	0	1	0	2	2	1	1	1	6	1	2	1	6	3	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:109773620G>A	ENST00000369923.4	+	5	579	c.568G>A	c.(568-570)Ggg>Agg	p.G190R	SARS_ENST00000234677.2_Missense_Mutation_p.G190R			P49591	SYSC_HUMAN	seryl-tRNA synthetase	190					seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	CGTGGTGGCTGGGAGTCGAGG	0.418													A	109773620	G	A	109773620	3	1	675	1	0	0	0	0	1	0	0	0	13936	1348	47	2	586	2	SARS	1	109773620	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		109773620	139477001	1	53130											
HMCN1	83872	broad.mit.edu	37	chr1	186014932	186014932	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctactcttacttggttaaaAgacggccaccccttgctgaa	10	11	7	13	1	1	2	0	1	1	1	1	2	1	2	4	2	3	2	4	2	5	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:186014932A>G	ENST00000271588.4	+	41	6646	c.6417A>G	c.(6415-6417)aaA>aaG	p.K2139K	HMCN1_ENST00000367492.2_Silent_p.K2139K	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2139	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTTGGTTAAAAGACGGCCACC	0.393													G	186014932	A	G	186014932	2	3	675	1	0	0	0	0	0	0	0	1	7275	69	3	3		3	HMCN1	1	186014932	Silent	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	76241312	186014932	63235689	2	53131											
OR2L3	391192	broad.mit.edu	37	chr1	248224013	248224013	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaatcaaacatcaactgaTttcatcttattaggattctt	14	16	3	8	0	5	1	3	1	2	0	5	2	5	2	0	1	3	0	0	1	6	6			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr1:248224013T>C	ENST00000359959.3	+	1	30	c.30T>C	c.(28-30)gaT>gaC	p.D10D	OR2L13_ENST00000366478.2_Intron	NM_001004687.1	NP_001004687.1	Q8NG85	OR2L3_HUMAN	olfactory receptor, family 2, subfamily L, member 3	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(28)|prostate(1)|skin(1)|urinary_tract(1)	41	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CATCAACTGATTTCATCTTAT	0.388													C	248224013	T	C	248224013	2	2	675	1	0	0	0	0	0	0	0	1	11084	1490	52	3		3	OR2L3	1	248224013	Silent	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	62209081	248224013	1026608	3	53132											
IL1RL1	9173	broad.mit.edu	37	chr2	102955415	102955415	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaaaagtattcccactcaGgaaagaaatcgtgtgtttgc	15	10	8	8	1	1	1	1	0	0	1	3	2	2	2	1	1	2	2	1	1	6	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:102955415G>C	ENST00000311734.2	+	3	519	c.180G>C	c.(178-180)caG>caC	p.Q60H	IL1RL1_ENST00000393393.3_Missense_Mutation_p.Q60H|IL1RL1_ENST00000233954.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000404917.2_Intron|IL1RL1_ENST00000409584.1_Missense_Mutation_p.Q60H|IL1RL1_ENST00000473175.1_3'UTR	NM_001282408.1	NP_001269337.1	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	60	Ig-like C2-type 1.				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						TTCCCACTCAGGAAAGAAATC	0.393													C	102955415	G	C	102955415	3	2	675	1	0	0	0	0	1	0	0	0	7721	991	35	4	186	4	IL1RL1	2	102955415	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		102955415	140243958	4	53133											
POTEE	445582	broad.mit.edu	37	chr2	132021463	132021463	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaccgaggcccccctgaaccCcaaggccaaccgcgagaaga	12	1	11	17	3	0	3	0	1	0	2	0	6	0	3	8	2	2	0	8	2	4	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:132021463C>T	ENST00000356920.5	+	15	2529	c.2435C>T	c.(2434-2436)cCc>cTc	p.P812L	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	812	Actin-like.						ATP binding										CCCCTGAACCCCAAGGCCAAC	0.602													T	132021463	C	T	132021463	3	4	675	1	0	0	0	0	1	0	0	0	12341	623	22	2	2493	2	POTEE	2	132021463	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	29066048	132021463	111177910	5	53134											
TTN	7273	broad.mit.edu	37	chr2	179590358	179590358	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagtgaggctgttcagtttgGagacaaatcttggtggttct	8	14	13	6	0	3	2	1	1	2	1	3	3	3	2	0	4	0	4	0	4	1	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:179590358G>C	ENST00000589042.1	-	71	20797	c.20573C>G	c.(20572-20574)tCc>tGc	p.S6858C	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S5614C|TTN_ENST00000591111.1_Missense_Mutation_p.S6541C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	6541	Ig-like 50.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTCAGTTTGGAGACAAATCT	0.433													C	179590358	G	C	179590358	3	2	675	1	0	0	0	0	1	0	0	0	16837	1174	41	4	84124	4	TTN	2	179590358	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	47568895	179590358	63609015	6	53135											
NRP2	8828	broad.mit.edu	37	chr2	206628528	206628528	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtaccaggccacgggcggCcgcggggtggcgctgcaggt	5	4	19	13	5	0	0	0	0	0	0	0	0	0	0	3	7	2	3	3	7	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:206628528C>G	ENST00000360409.3	+	13	2966	c.2175C>G	c.(2173-2175)ggC>ggG	p.G725G	AC007362.3_ENST00000423425.1_RNA|NRP2_ENST00000540841.1_Silent_p.G725G|NRP2_ENST00000357118.4_Silent_p.G725G|AC007362.3_ENST00000596616.1_RNA|NRP2_ENST00000412873.2_Silent_p.G725G|NRP2_ENST00000540178.1_Silent_p.G725G|NRP2_ENST00000357785.5_Silent_p.G725G|NRP2_ENST00000485684.1_3'UTR|NRP2_ENST00000272849.3_Silent_p.G725G|AC007362.3_ENST00000598710.1_RNA	NM_003872.2|NM_201266.1|NM_201279.1	NP_003863.2|NP_957718|NP_958436.1	O60462	NRP2_HUMAN	neuropilin 2	725	MAM.				angiogenesis|axon guidance|cell adhesion	integral to membrane|membrane fraction|plasma membrane	heparin binding|metal ion binding|semaphorin receptor activity|vascular endothelial growth factor receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(14)|lung(19)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	52						CCACGGGCGGCCGCGGGGTGG	0.692											OREG0015155	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	206628528	C	G	206628528	2	3	675	1	0	0	0	0	0	0	0	1	10737	726	26	4		4	NRP2	2	206628528	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	27038170	206628528	36570845	7	53136											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	675	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	2484584	209113112	34086261	8	53137											
IHH	3549	broad.mit.edu	37	chr2	219922332	219922332	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgagtggtggccgtcctcgtCccagccctcggtcacccgca	4	8	12	17	4	1	1	1	1	0	0	5	1	3	1	5	3	1	1	5	3	0	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:219922332C>T	ENST00000295731.6	-	2	399	c.400G>A	c.(400-402)Gac>Aac	p.D134N		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CCGTCCTCGTCCCAGCCCTCG	0.627													T	219922332	C	T	219922332	3	4	675	1	0	0	0	0	1	0	0	0	7665	855	30	2	843	2	IHH	2	219922332	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	10809220	219922332	23277041	9	53138											
OR6B2	389090	broad.mit.edu	37	chr2	240969527	240969527	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacacactcggtgcacaccAgggagctgaagaagtagagc	13	4	13	11	1	0	3	0	1	0	2	1	4	0	4	1	2	3	4	1	2	3	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr2:240969527A>G	ENST00000402971.2	-	1	379	c.320T>C	c.(319-321)cTg>cCg	p.L107P		NM_001005853.1	NP_001005853.1	Q6IFH4	OR6B2_HUMAN	olfactory receptor, family 6, subfamily B, member 2	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(9)|prostate(1)	15		all_epithelial(40;1.64e-11)|Breast(86;0.000327)|Renal(207;0.00571)|Ovarian(221;0.104)|all_hematologic(139;0.182)|all_lung(227;0.229)|Melanoma(123;0.238)		Epithelial(121;3.4e-29)|all cancers(36;2.08e-27)|OV - Ovarian serous cystadenocarcinoma(60;4.63e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.56e-05)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)		GGTGCACACCAGGGAGCTGAA	0.617													G	240969527	A	G	240969527	3	3	675	1	0	0	0	0	1	0	0	0	11264	188	7	3	620	3	OR6B2	2	240969527	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	21047195	240969527	2229846	10	53139											
SCN11A	11280	broad.mit.edu	37	chr3	38938452	38938452	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccattccccgcagaggatgcGgaataccactaggaaggagt	12	6	12	11	2	0	1	0	0	0	1	1	5	1	5	4	4	2	1	4	4	4	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:38938452G>A	ENST00000450244.1	-	14	2485	c.2287C>T	c.(2287-2289)Cgc>Tgc	p.R763C	SCN11A_ENST00000444237.2_Missense_Mutation_p.R763C|SCN11A_ENST00000302328.3_Missense_Mutation_p.R763C|SCN11A_ENST00000456224.3_Missense_Mutation_p.R763C			Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	763					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	CAGAGGATGCGGAATACCACT	0.473													A	38938452	G	A	38938452	3	1	675	1	0	0	0	0	1	0	0	0	14006	1116	39	1	3140	1	SCN11A	3	38938452	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		38938452	159083978	11	53140											
ZNF621	285268	broad.mit.edu	37	chr3	40574112	40574112	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttttattgtccatcagagaaTtcatactggggagaaacctt	12	14	8	7	0	2	2	2	0	0	2	3	4	3	2	2	2	2	0	2	2	4	6			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:40574112T>G	ENST00000339296.5	+	5	1303	c.851T>G	c.(850-852)aTt>aGt	p.I284S	ZNF621_ENST00000490457.1_Intron|ZNF621_ENST00000310898.1_Intron|ZNF621_ENST00000403205.2_Missense_Mutation_p.I284S|ZNF621_ENST00000431278.1_Missense_Mutation_p.I173S	NM_198484.3	NP_940886.1	Q6ZSS3	ZN621_HUMAN	zinc finger protein 621	284					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0515)|Kidney(284;0.0648)		CATCAGAGAATTCATACTGGG	0.433													G	40574112	T	G	40574112	3	3	675	1	0	0	0	0	1	0	0	0	18146	1493	52	5	865	5	ZNF621	3	40574112	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	1635660	40574112	157448318	12	53141											
PLXNA1	5361	broad.mit.edu	37	chr3	126748762	126748762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgacagcctgcgctcgcGcacgcccatgatcacgcccg	6	4	10	21	7	1	1	1	1	0	0	2	2	1	1	5	0	2	2	5	0	0	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr3:126748762G>A	ENST00000393409.2	+	27	4916	c.4916G>A	c.(4915-4917)cGc>cAc	p.R1639H	PLXNA1_ENST00000251772.4_Missense_Mutation_p.R1616H	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	1639					axon guidance	integral to membrane|intracellular|plasma membrane	semaphorin receptor activity			breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTGCGCTCGCGCACGCCCATG	0.716													A	126748762	G	A	126748762	3	1	675	1	0	0	0	0	1	0	0	0	12196	1087	38	1	5022	1	PLXNA1	3	126748762	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	86174650	126748762	71273668	13	53142											
CCNG2	901	broad.mit.edu	37	chr4	78080651	78080652	+	Frame_Shift_Ins	INS	-	-	A																															tggacaggttcttggctcttINSatgaaggtatttcatcattt																										TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr4:78080651_78080652insA	ENST00000316355.5	+	3	626_627	c.270_271insA	c.(271-273)atgfs	p.M91fs	CCNG2_ENST00000354403.5_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000497512.1_3'UTR|CCNG2_ENST00000502280.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000395640.1_Frame_Shift_Ins_p.M91fs|CCNG2_ENST00000509972.1_Frame_Shift_Ins_p.M91fs	NM_004354.2	NP_004345.1	Q16589	CCNG2_HUMAN	cyclin G2	91					cell cycle checkpoint|cell division|mitosis	cytoplasm				breast(1)|kidney(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	10						TCTTGGCTCTTATGAAGGTATT	0.356													A	78080652	-	A	78080651	7	5	675	1	0	1	1	0	0	0	0	0	2954	1741	61	0	276	0	CCNG2	4	78080651	Frame_Shift_Ins	INS	-	TCGA-QH-A6X9-01A-12D-A32B-08		78080651	113073625	14	53143											
HIST1H2AC	8334	broad.mit.edu	37	chr6	26124846	26124846	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagtcaccacaaggccaaggGcaagtgatttgacaggtatc	13	7	12	9	0	1	2	1	2	0	0	2	3	1	2	2	3	0	2	2	3	4	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:26124846G>A	ENST00000602637.1	+	1	416	c.386G>A	c.(385-387)gGc>gAc	p.G129D	HIST1H2AC_ENST00000377791.2_Missense_Mutation_p.G129D			Q93077	H2A1C_HUMAN	histone cluster 1, H2ac	129					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(5)	12						AAGGCCAAGGGCAAGTGATTT	0.542													A	26124846	G	A	26124846	3	1	675	1	0	0	0	0	1	0	0	0	7185	1203	42	2	388	2	HIST1H2AC	6	26124846	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		26124846	144990221	15	53144											
HIST1H2BM	8342	broad.mit.edu	37	chr6	27782965	27782965	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtacaaggtgctgaagcaGgtccaccccgacaccggcat	10	6	12	13	2	0	1	0	1	0	0	1	2	1	1	4	3	3	4	4	3	3	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:27782965G>C	ENST00000359465.4	+	1	144	c.144G>C	c.(142-144)caG>caC	p.Q48H		NM_003521.2	NP_003512.1	Q99879	H2B1M_HUMAN	histone cluster 1, H2bm	48					nucleosome assembly	nucleosome|nucleus	DNA binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)	12						TGCTGAAGCAGGTCCACCCCG	0.537													C	27782965	G	C	27782965	3	2	675	1	0	0	0	0	1	0	0	0	7207	991	35	4	146	4	HIST1H2BM	6	27782965	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	1658119	27782965	143332102	16	53145											
GRM4	2914	broad.mit.edu	37	chr6	34029798	34029798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccgactgggcgatgcaCacgccccctgcaggaggggc	7	5	14	15	3	1	0	1	0	0	0	1	3	1	1	3	4	2	2	3	4	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:34029798C>T	ENST00000538487.2	-	4	1187	c.744G>A	c.(742-744)gtG>gtA	p.V248V	GRM4_ENST00000374177.3_Silent_p.V179V|GRM4_ENST00000535756.1_Silent_p.V115V|GRM4_ENST00000544773.2_Silent_p.V79V|GRM4_ENST00000609222.1_Silent_p.V115V|GRM4_ENST00000374181.4_Silent_p.V248V|GRM4_ENST00000455714.2_Silent_p.V108V|GRM4_ENST00000545715.1_5'UTR	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	GGGCGATGCACACGCCCCCTG	0.642													T	34029798	C	T	34029798	2	4	675	1	0	0	0	0	0	0	0	1	6854	465	17	2		2	GRM4	6	34029798	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	6246833	34029798	137085269	17	53146											
KLHDC3	116138	broad.mit.edu	37	chr6	42985952	42985952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggactcttatctgtacaAaggtctgctctttctttttt	7	19	6	9	0	5	0	0	0	5	0	5	1	5	1	0	2	2	2	0	2	3	6			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:42985952A>G	ENST00000326974.4	+	5	712	c.517A>G	c.(517-519)Aag>Gag	p.K173E	KLHDC3_ENST00000244670.8_Missense_Mutation_p.K39E|KLHDC3_ENST00000332245.8_Missense_Mutation_p.K114E	NM_057161.3	NP_476502.1	Q9BQ90	KLDC3_HUMAN	kelch domain containing 3	173					reciprocal meiotic recombination	cytoplasm|nuclear chromatin	chromatin binding|protein binding			cervix(1)|endometrium(1)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	9			Colorectal(64;0.00237)|all cancers(41;0.0034)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0539)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			TATCTGTACAAAGGTCTGCTC	0.448													G	42985952	A	G	42985952	3	3	675	1	0	0	0	0	1	0	0	0	8415	15	1	3	531	3	KLHDC3	6	42985952	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	8956154	42985952	128129115	18	53147											
TAAR9	134860	broad.mit.edu	37	chr6	132860099	132860099	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtaagatatttttggtggCcaagcatcaggctaggaaga	13	10	12	6	0	1	2	1	0	0	2	1	3	1	3	1	4	1	3	1	4	5	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:132860099C>T	ENST00000434551.1	+	0	671					NM_175057.3	NP_778227.3	Q96RI9	TAAR9_HUMAN	trace amine associated receptor 9 (gene/pseudogene)							plasma membrane	G-protein coupled receptor activity					Breast(56;0.112)			OV - Ovarian serous cystadenocarcinoma(155;0.0042)|GBM - Glioblastoma multiforme(226;0.00816)		TTTTTGGTGGCCAAGCATCAG	0.433													T	132860099	C	T	132860099	1	4	675	0	1	0	0	0	0	0	0	0	15591	739	26	2		2	TAAR9	6	132860099	RNA	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	89874147	132860099	38254968	19	53148											
MLLT4	4301	broad.mit.edu	37	chr6	168281192	168281192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctaaggattactgcatcGcccgggtaaggaactttatc	11	10	9	11	2	0	0	0	0	0	0	2	2	0	2	2	3	3	2	2	3	5	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr6:168281192G>A	ENST00000366806.2	+	6	1034	c.892G>A	c.(892-894)Gcc>Acc	p.A298T	MLLT4_ENST00000344191.4_Missense_Mutation_p.A298T|MLLT4_ENST00000392108.3_Missense_Mutation_p.A298T|MLLT4_ENST00000400822.3_Missense_Mutation_p.A297T|MLLT4_ENST00000447894.2_Missense_Mutation_p.A298T|MLLT4_ENST00000392112.1_Missense_Mutation_p.A297T|MLLT4_ENST00000351017.4_Missense_Mutation_p.A298T			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	298	Ras-associating 2.				adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		TTACTGCATCGCCCGGGTAAG	0.383			T	MLL	AL								A	168281192	G	A	168281192	3	1	675	1	0	0	0	0	1	0	0	0	9704	1087	38	1	914	1	MLLT4	6	168281192	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	35421093	168281192	2833875	20	53149											
PMS2	5395	broad.mit.edu	37	chr7	6045657	6045657	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttgatggccttagcaggtTctgtactagagaaatcagtt	10	14	11	6	0	2	2	1	1	1	1	2	3	2	2	1	2	2	5	1	2	4	6			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:6045657T>G	ENST00000265849.7	-	2	134	c.29A>C	c.(28-30)gAa>gCa	p.E10A	PMS2_ENST00000382321.4_Missense_Mutation_p.E10A|PMS2_ENST00000469652.1_5'UTR|PMS2_ENST00000406569.3_Missense_Mutation_p.E10A	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	10					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		CTTAGCAGGTTCTGTACTAGA	0.388			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				G	6045657	T	G	6045657	3	3	675	1	0	0	0	0	1	0	0	0	12220	1783	62	5	2615	5	PMS2	7	6045657	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		6045657	153093006	21	53150											
SLC26A4	5172	broad.mit.edu	37	chr7	107303781	107303781	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgtgctaaagactcttGtgcccatcttggagtggctc	6	14	12	9	0	2	1	0	0	2	1	3	2	2	2	1	3	2	2	1	3	2	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr7:107303781G>T	ENST00000265715.3	+	3	429	c.205G>T	c.(205-207)Gtg>Ttg	p.V69L		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	69					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						AAAGACTCTTGTGCCCATCTT	0.468									Pendred syndrome				T	107303781	G	T	107303781	3	4	675	1	0	0	0	0	1	0	0	0	14613	1377	48	4	211	4	SLC26A4	7	107303781	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	101258124	107303781	51834882	22	53151											
JPH1	56704	broad.mit.edu	37	chr8	75157237	75157237	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggggctttggggaggAagcaggagagtggctgtgtt	7	10	19	5	0	1	1	1	0	0	1	1	4	1	3	0	7	1	4	0	7	1	3	rs149108334		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:75157237A>G	ENST00000342232.4	-	4	1472	c.1432T>C	c.(1432-1434)Tcc>Ccc	p.S478P		NM_020647.2	NP_065698.1	Q9HDC5	JPH1_HUMAN	junctophilin 1	478					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional membrane complex|junctional sarcoplasmic reticulum membrane|plasma membrane				endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	24	Breast(64;0.00576)		BRCA - Breast invasive adenocarcinoma(89;0.0499)|Epithelial(68;0.0728)|all cancers(69;0.176)			TTTGGGGAGGAAGCAGGAGAG	0.537													G	75157237	A	G	75157237	3	3	675	1	0	0	0	0	1	0	0	0	8018	246	9	3	561	3	JPH1	8	75157237	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08		75157237	71206785	23	53152											
CNGB3	54714	broad.mit.edu	37	chr8	87645034	87645034	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaaaaaattcaagagttgAaaaacaatttcaaataaagt	24	9	5	3	0	2	2	2	1	0	1	2	3	2	2	0	0	1	1	0	0	11	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:87645034A>G	ENST00000320005.5	-	11	1313	c.1266T>C	c.(1264-1266)ttT>ttC	p.F422F		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	422					signal transduction|visual perception	integral to membrane	cGMP binding			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						TCAAGAGTTGAAAAACAATTT	0.353													G	87645034	A	G	87645034	2	3	675	1	0	0	0	0	0	0	0	1	3632	243	9	3		3	CNGB3	8	87645034	Silent	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	12487797	87645034	58718988	24	53153											
MTSS1	9788	broad.mit.edu	37	chr8	125597328	125597328	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaattttaggagttacCtttttttgctttcttctgca	7	19	8	7	0	2	1	0	0	2	1	2	2	2	2	1	2	3	4	1	2	3	8			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr8:125597328C>T	ENST00000518547.1	-	6	933	c.460G>A	c.(460-462)Ggg>Agg	p.G154R	MTSS1_ENST00000378017.3_Splice_Site_p.G154R|MTSS1_ENST00000354184.4_5'UTR|MTSS1_ENST00000325064.5_Splice_Site_p.V154M	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	154	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			TAGGAGTTACCTTTTTTTGCT	0.373													T	125597328	C	T	125597328	5	4	675	1	0	0	0	0	0	0	1	0	10038	695	24	2	1843	2	MTSS1	8	125597328	Splice_Site	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	37952294	125597328	20766694	25	53154											
KIAA0020	9933	broad.mit.edu	37	chr9	2829902	2829902	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccgcagcatcttcctcaCgtggcctttaaaacttctga	9	12	7	13	2	3	1	1	1	2	0	4	1	4	1	3	1	3	2	3	1	2	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr9:2829902C>T	ENST00000397885.2	-	8	930	c.724G>A	c.(724-726)Gtg>Atg	p.V242M	KIAA0020_ENST00000469168.1_5'UTR	NM_014878.4	NP_055693.4	Q15397	K0020_HUMAN	KIAA0020	242	PUM-HD.					endoplasmic reticulum|nucleolus	RNA binding			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)	21				GBM - Glioblastoma multiforme(50;0.0319)		ATCTTCCTCACGTGGCCTTTA	0.448													T	2829902	C	T	2829902	3	4	675	1	0	0	0	0	1	0	0	0	8210	536	19	1	1266	1	KIAA0020	9	2829902	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		2829902	138383529	26	53155											
PPFIBP2	8495	broad.mit.edu	37	chr11	7669667	7669667	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacagagcgtgtgtgtgcaTggctggaggactttggcctg	6	10	17	8	1	0	1	0	0	0	1	0	3	0	3	1	4	2	3	1	4	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:7669667T>C	ENST00000299492.4	+	18	2084	c.1696T>C	c.(1696-1698)Tgg>Cgg	p.W566R	PPFIBP2_ENST00000533792.1_Missense_Mutation_p.W408R|PPFIBP2_ENST00000530181.1_Missense_Mutation_p.W423R|PPFIBP2_ENST00000528883.1_Missense_Mutation_p.W454R|PPFIBP2_ENST00000530582.1_3'UTR	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	566	SAM 1.				cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		TGTGTGTGCATGGCTGGAGGA	0.547													C	7669667	T	C	7669667	3	2	675	1	0	0	0	0	1	0	0	0	12391	1464	51	3	1762	3	PPFIBP2	11	7669667	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		7669667	127336849	27	53156											
OR8H3	390152	broad.mit.edu	37	chr11	55890587	55890587	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cttgcgtctctcatctcttgGgagtcaccatcttctatgga	6	15	8	12	1	6	0	2	0	4	0	8	2	6	2	1	2	1	0	1	2	1	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:55890587G>T	ENST00000313472.3	+	1	739	c.739G>T	c.(739-741)Gga>Tga	p.G247*		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	247					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCATCTCTTGGGAGTCACCAT	0.383													T	55890587	G	T	55890587	4	4	675	1	0	0	0	0	0	1	0	0	11315	1233	43	4	741	4	OR8H3	11	55890587	Nonsense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	48220920	55890587	79115929	28	53157											
PELI3	246330	broad.mit.edu	37	chr11	66243323	66243323	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tacgtccgctgcgggcacgtCcatggctaccacggctgggg	5	7	15	14	5	0	0	0	0	0	0	2	0	2	0	3	5	3	4	3	5	2	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:66243323C>T	ENST00000349459.6	+	7	1307	c.1023C>T	c.(1021-1023)gtC>gtT	p.V341V	PELI3_ENST00000531856.1_3'UTR|PELI3_ENST00000320740.7_Silent_p.V365V|CTD-3074O7.5_ENST00000533502.1_RNA|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	365						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						GCGGGCACGTCCATGGCTACC	0.711													T	66243323	C	T	66243323	2	4	675	1	0	0	0	0	0	0	0	1	11799	842	30	2		2	PELI3	11	66243323	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	10352736	66243323	68763193	29	53158											
FAT3	120114	broad.mit.edu	37	chr11	92538511	92538511	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacaatagcccagtgtgtgAtcaggtgagatttggggata	11	11	14	5	0	1	3	1	3	0	1	1	5	1	4	1	3	1	0	1	3	3	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:92538511A>T	ENST00000298047.6	+	10	9106	c.9089A>T	c.(9088-9090)gAt>gTt	p.D3030V	FAT3_ENST00000525166.1_Missense_Mutation_p.D2880V|FAT3_ENST00000409404.2_Missense_Mutation_p.D3030V			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	3030	Cadherin 28.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				CCAGTGTGTGATCAGGTGAGA	0.423										TCGA Ovarian(4;0.039)			T	92538511	A	T	92538511	3	4	675	1	0	0	0	0	1	0	0	0	5740	333	12	5	9127	5	FAT3	11	92538511	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	26295188	92538511	42468005	30	53159											
CEP164	22897	broad.mit.edu	37	chr11	117282521	117282521	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccttcccagtgagcagctcCggctcctacagcactcccat	7	9	7	18	1	0	1	0	1	0	0	5	1	5	1	5	1	4	4	5	1	1	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr11:117282521C>T	ENST00000278935.3	+	32	4321	c.4174C>T	c.(4174-4176)Cgg>Tgg	p.R1392W	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1392					cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		TGAGCAGCTCCGGCTCCTACA	0.597													T	117282521	C	T	117282521	3	4	675	1	0	0	0	0	1	0	0	0	3279	643	23	1	4292	1	CEP164	11	117282521	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	24744010	117282521	17723995	31	53160											
ACACB	32	broad.mit.edu	37	chr12	109675033	109675033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttccagctggaacttaacCggatgcgtaacttcgatctg	9	11	9	12	3	1	0	0	0	1	0	3	3	2	2	3	2	5	2	3	2	3	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr12:109675033C>T	ENST00000338432.7	+	34	4629	c.4510C>T	c.(4510-4512)Cgg>Tgg	p.R1504W	ACACB_ENST00000377854.5_Missense_Mutation_p.R1434W|ACACB_ENST00000377848.3_Missense_Mutation_p.R1504W|ACACB_ENST00000543201.1_Missense_Mutation_p.R170W			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	1504					acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	GGAACTTAACCGGATGCGTAA	0.542													T	109675033	C	T	109675033	3	4	675	1	0	0	0	0	1	0	0	0	107	643	23	1	4640	1	ACACB	12	109675033	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		109675033	24176862	32	53161											
ABHD13	84945	broad.mit.edu	37	chr13	108882243	108882243	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttaagcataccacatatggCcagcactttattttcattct	11	16	4	10	0	2	0	1	0	1	0	2	0	2	0	2	1	3	2	2	1	4	9			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr13:108882243C>T	ENST00000375898.3	+	2	978	c.677C>T	c.(676-678)gCc>gTc	p.A226V		NM_032859.2	NP_116248.2	Q7L211	ABHDD_HUMAN	abhydrolase domain containing 13	226						integral to membrane	hydrolase activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17	all_lung(23;0.000238)|all_neural(89;0.00256)|Lung NSC(43;0.0056)|Medulloblastoma(90;0.00596)|Lung SC(71;0.104)					CCACATATGGCCAGCACTTTA	0.383													T	108882243	C	T	108882243	3	4	675	1	0	0	0	0	1	0	0	0	78	739	26	2	679	2	ABHD13	13	108882243	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		108882243	6287635	33	53162											
OR4K2	390431	broad.mit.edu	37	chr14	20345046	20345046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaacaagtggcataattgCgttgtcctgttttattgttt	8	18	8	7	1	1	0	1	0	0	0	2	0	2	0	1	1	2	4	1	1	4	7			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:20345046C>T	ENST00000298642.2	+	1	656	c.620C>T	c.(619-621)gCg>gTg	p.A207V		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A207V(1)|p.A207E(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		GGCATAATTGCGTTGTCCTGT	0.398													T	20345046	C	T	20345046	3	4	675	1	0	0	0	0	1	0	0	0	11148	768	27	1	622	1	OR4K2	14	20345046	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		20345046	87004494	34	53163											
OR6S1	341799	broad.mit.edu	37	chr14	21109290	21109290	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttggtgcaagccaggcggagCagtgggccactgtcgcagaa	9	6	16	10	2	0	1	0	0	0	1	1	2	0	2	2	4	3	3	2	4	2	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:21109290C>A	ENST00000320704.3	-	1	560	c.561G>T	c.(559-561)ctG>ctT	p.L187L		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	187					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		CCAGGCGGAGCAGTGGGCCAC	0.567													A	21109290	C	A	21109290	2	1	675	1	0	0	0	0	0	0	0	1	11285	697	25	4		4	OR6S1	14	21109290	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	764244	21109290	86240250	35	53164											
FUT8	2530	broad.mit.edu	37	chr14	66096323	66096323	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggagaataacatatcttcAggtaagaaggttgggttaag	14	10	13	4	1	2	2	1	0	1	2	2	3	2	2	0	4	1	3	0	4	6	6			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr14:66096323A>T	ENST00000360689.5	+	6	2323	c.596A>T	c.(595-597)cAg>cTg	p.Q199L	FUT8_ENST00000394586.2_Splice_Site_p.Q199L|FUT8_ENST00000358307.2_Splice_Site_p.Q70L|FUT8_ENST00000557164.1_Splice_Site_p.Q36L|FUT8_ENST00000394585.1_Splice_Site_p.Q199L	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	199					in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		ACATATCTTCAGGTAAGAAGG	0.383													T	66096323	A	T	66096323	5	4	675	1	0	0	0	0	0	0	1	0	6162	202	7	5	709	5	FUT8	14	66096323	Splice_Site	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	44987033	66096323	41253217	36	53165											
TRPM1	4308	broad.mit.edu	37	chr15	31294434	31294434	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacttggcattgccattccGtcgtcaattgctggtccgtg	6	13	11	11	3	1	0	1	0	0	0	4	1	3	0	3	2	3	2	3	2	2	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr15:31294434G>A	ENST00000542188.1	-	27	4833	c.4520C>T	c.(4519-4521)aCg>aTg	p.T1507M	RP11-348B17.1_ENST00000561299.1_RNA|TRPM1_ENST00000397795.2_Missense_Mutation_p.T1468M|TRPM1_ENST00000256552.6_Missense_Mutation_p.T1490M	NM_001252020.1	NP_001238949.1	Q7Z4N2	TRPM1_HUMAN	transient receptor potential cation channel, subfamily M, member 1	1468					cellular response to light stimulus|visual perception	integral to plasma membrane	calcium channel activity|receptor activity			NS(2)|breast(3)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(15)|lung(48)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(3)	99		all_lung(180;1.92e-11)		all cancers(64;3.52e-16)|Epithelial(43;1.65e-11)|GBM - Glioblastoma multiforme(186;3.57e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00533)|COAD - Colon adenocarcinoma(236;0.0609)|Lung(196;0.199)		TTGCCATTCCGTCGTCAATTG	0.488													A	31294434	G	A	31294434	3	1	675	1	0	0	0	0	1	0	0	0	16686	1145	40	1	412	1	TRPM1	15	31294434	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		31294434	71236958	37	53166											
OR1A2	26189	broad.mit.edu	37	chr17	3101424	3101424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtacctaggggtcggCgttttctctttgccattact	6	16	10	9	2	1	1	0	1	1	0	3	1	1	1	2	3	3	2	2	3	3	6			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:3101424C>T	ENST00000381951.1	+	1	612	c.612C>T	c.(610-612)ggC>ggT	p.G204G		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						TAGGGGTCGGCGTTTTCTCTT	0.428													T	3101424	C	T	3101424	2	4	675	1	0	0	0	0	0	0	0	1	11026	755	27	1		1	OR1A2	17	3101424	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		3101424	78093786	38	53167											
TP53	7157	broad.mit.edu	37	chr17	7578460	7578460	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagatggccatggcgcggAcgcgggtgccgggcgggggt	4	6	22	9	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:7578460A>T	ENST00000420246.2	-	5	602	c.470T>A	c.(469-471)gTc>gAc	p.V157D	TP53_ENST00000445888.2_Missense_Mutation_p.V157D|TP53_ENST00000413465.2_Missense_Mutation_p.V157D|TP53_ENST00000269305.4_Missense_Mutation_p.V157D|TP53_ENST00000455263.2_Missense_Mutation_p.V157D|TP53_ENST00000359597.4_Missense_Mutation_p.V157D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	157	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> D (in sporadic cancers; somatic mutation).|V -> F (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> I (in sporadic cancers; somatic mutation).|V -> L (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.V157D(8)|p.0?(8)|p.V157G(7)|p.R156_I162delRVRAMAI(2)|p.T155fs*23(2)|p.V157del(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.P151_V173del23(1)|p.R156_V157del(1)|p.V157A(1)|p.R156_R158delRVR(1)|p.R156fs*12(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.D148fs*23(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(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)		CATGGCGCGGACGCGGGTGCC	0.617		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)			T	7578460	A	T	7578460	3	4	675	1	0	0	0	0	1	0	0	0	16482	275	10	5	828	5	TP53	17	7578460	Missense_Mutation	SNP	A	TCGA-QH-A6X9-01A-12D-A32B-08	4477036	7578460	73616750	39	53168											
MYH4	4622	broad.mit.edu	37	chr17	10352347	10352347	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttctgcatcctgcagaCgctgggctagcttcttcctg	4	14	10	13	1	3	1	0	0	3	1	5	1	5	1	2	1	3	6	2	1	1	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:10352347C>T	ENST00000255381.2	-	31	4309	c.4199G>A	c.(4198-4200)cGt>cAt	p.R1400H	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1400					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						ATCCTGCAGACGCTGGGCTAG	0.463													T	10352347	C	T	10352347	3	4	675	1	0	0	0	0	1	0	0	0	10113	536	19	1	1660	1	MYH4	17	10352347	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	2773887	10352347	70842863	40	53169											
KRT15	3866	broad.mit.edu	37	chr17	39673193	39673193	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcagcctcaacgccctggCgcagggccagctcattctca	7	8	10	16	2	4	0	4	0	1	0	5	0	4	0	3	2	3	2	3	2	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:39673193C>T	ENST00000254043.3	-	3	4190	c.605G>A	c.(604-606)cGc>cAc	p.R202H	KRT15_ENST00000393981.3_Missense_Mutation_p.R37H|KRT15_ENST00000393976.2_Missense_Mutation_p.R202H|KRT15_ENST00000393974.3_Missense_Mutation_p.R37H	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				AACGCCCTGGCGCAGGGCCAG	0.602													T	39673193	C	T	39673193	3	4	675	1	0	0	0	0	1	0	0	0	8510	768	27	1	789	1	KRT15	17	39673193	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	29320846	39673193	41522017	41	53170											
SLC4A1	6521	broad.mit.edu	37	chr17	42335371	42335371	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacccaggaggccgccgaagGtgatggcgggtgacagtgca	9	4	18	10	3	0	2	0	2	0	0	0	5	0	3	3	5	1	1	3	5	1	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr17:42335371G>T	ENST00000262418.6	-	11	1420	c.1265C>A	c.(1264-1266)aCc>aAc	p.T422N	AC003043.1_ENST00000597382.1_Intron	NM_000342.3	NP_000333.1	P02730	B3AT_HUMAN	solute carrier family 4 (anion exchanger), member 1	422	Membrane (anion exchange).				bicarbonate transport|cellular ion homeostasis	basolateral plasma membrane|cortical cytoskeleton|integral to plasma membrane|Z disc	ankyrin binding|chloride transmembrane transporter activity|inorganic anion exchanger activity|protein anchor|protein homodimerization activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(16)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	40		Breast(137;0.014)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.115)		GCCGCCGAAGGTGATGGCGGG	0.572													T	42335371	G	T	42335371	3	4	675	1	0	0	0	0	1	0	0	0	14744	1261	44	4	1510	4	SLC4A1	17	42335371	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	2662178	42335371	38859839	42	53171											
FECH	2235	broad.mit.edu	37	chr18	55238765	55238765	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgtttggcgatgaatggtgCcagcttactaaatcatttaa	11	13	10	7	2	1	1	1	1	0	0	1	2	1	1	1	2	3	2	1	2	5	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr18:55238765C>T	ENST00000262093.5	-	4	473	c.322G>A	c.(322-324)Gca>Aca	p.A108T	FECH_ENST00000382873.3_Missense_Mutation_p.A114T|FECH_ENST00000585699.1_5'UTR	NM_000140.3|NM_001012515.2	NP_000131.2|NP_001012533.1	P22830	HEMH_HUMAN	ferrochelatase	108					generation of precursor metabolites and energy|heme biosynthetic process|protoporphyrinogen IX metabolic process|response to light stimulus	mitochondrial inner membrane|mitochondrial matrix	2 iron, 2 sulfur cluster binding|ferrochelatase activity|ferrous iron binding|protein binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	15		Colorectal(73;0.227)				ATGAATGGTGCCAGCTTACTA	0.423													T	55238765	C	T	55238765	3	4	675	1	0	0	0	0	1	0	0	0	5857	739	26	2	981	2	FECH	18	55238765	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08		55238765	22838483	43	53172											
OAZ1	4946	broad.mit.edu	37	chr19	2273072	2273072	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttgcttcatggcctacacgTtcgagagagagtcttcggga	8	11	12	10	3	2	2	1	0	1	2	4	5	2	3	1	2	2	2	1	2	1	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:2273072T>C	ENST00000583542.4	+	6	750	c.676T>C	c.(676-678)Ttc>Ctc	p.F226L	OAZ1_ENST00000582888.4_Missense_Mutation_p.F216L|OAZ1_ENST00000588673.2_Missense_Mutation_p.F247L|OAZ1_ENST00000322297.4_Missense_Mutation_p.F217L|OAZ1_ENST00000602676.2_Missense_Mutation_p.F218L			P54368	OAZ1_HUMAN	ornithine decarboxylase antizyme 1						polyamine biosynthetic process|regulation of cellular amino acid metabolic process	cytosol	ornithine decarboxylase inhibitor activity			endometrium(1)|lung(2)	3		Hepatocellular(1079;0.137)		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)	L-Ornithine(DB00129)	GGCCTACACGTTCGAGAGAGA	0.637													C	2273072	T	C	2273072	3	2	675	1	0	0	0	0	1	0	0	0	10880	1725	60	3	671	3	OAZ1	19	2273072	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		2273072	56855911	44	53173											
HSH2D	84941	broad.mit.edu	37	chr19	16268157	16268157	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gagacccgccagaaactctgGaggagcctcaaaatgctccc	12	5	10	14	1	2	2	1	0	1	2	3	5	3	4	4	2	3	1	4	2	3	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:16268157G>A	ENST00000593154.2	+	8	1143	c.612G>A	c.(610-612)tgG>tgA	p.W204*	HSH2D_ENST00000397372.4_Nonsense_Mutation_p.W115*|HSH2D_ENST00000253680.6_Nonsense_Mutation_p.W204*|HSH2D_ENST00000588246.1_Nonsense_Mutation_p.W204*	NM_032855.2	NP_116244.1	Q96JZ2	HSH2D_HUMAN	hematopoietic SH2 domain containing	204						cytoplasm|nucleus				central_nervous_system(1)|kidney(1)|large_intestine(2)	4						AGAAACTCTGGAGGAGCCTCA	0.562													A	16268157	G	A	16268157	4	1	675	1	0	0	0	0	0	1	0	0	7457	1183	41	2	630	2	HSH2D	19	16268157	Nonsense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	13995085	16268157	42860826	45	53174											
FAM129C	199786	broad.mit.edu	37	chr19	17653073	17653073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tttctggggatgcagagcctCgtgtttggggcccaagatct	6	12	14	9	1	2	2	0	0	2	2	3	3	2	3	2	4	2	2	2	4	1	2			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:17653073C>T	ENST00000335393.4	+	11	1530	c.1392C>T	c.(1390-1392)ctC>ctT	p.L464L	FAM129C_ENST00000600871.1_Silent_p.L410L|FAM129C_ENST00000332386.5_Silent_p.L464L|FAM129C_ENST00000300971.2_Silent_p.L464L|FAM129C_ENST00000595684.1_Silent_p.L464L|FAM129C_ENST00000599124.1_Silent_p.L433L|FAM129C_ENST00000601861.1_Silent_p.L433L|FAM129C_ENST00000599164.1_Silent_p.L433L|FAM129C_ENST00000449408.2_Silent_p.L190L|FAM129C_ENST00000352727.3_Silent_p.L464L	NM_173544.4	NP_775815	Q86XR2	NIBL2_HUMAN	family with sequence similarity 129, member C	464								p.L464L(2)		autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(8)|liver(2)|lung(14)|ovary(1)|skin(3)|stomach(1)	33						TGCAGAGCCTCGTGTTTGGGG	0.627													T	17653073	C	T	17653073	2	4	675	1	0	0	0	0	0	0	0	1	5483	871	31	1		1	FAM129C	19	17653073	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	1384916	17653073	41475910	46	53175											
DMPK	1760	broad.mit.edu	37	chr19	46274858	46274858	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcctgcagcaactccatcCgctcctgcaactgccggacg	7	7	9	18	3	0	0	0	0	0	0	3	1	3	1	5	1	7	4	5	1	2	0	rs145245565		TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:46274858C>A	ENST00000600757.1	-	11	2270	c.1583G>T	c.(1582-1584)cGg>cTg	p.R528L	DMPK_ENST00000458663.2_Missense_Mutation_p.R518L|DMPK_ENST00000291270.4_Missense_Mutation_p.R523L|AC074212.6_ENST00000586498.1_RNA|DMPK_ENST00000343373.4_Missense_Mutation_p.R533L|AC074212.6_ENST00000586251.1_RNA|DMPK_ENST00000447742.2_Missense_Mutation_p.R518L|AC074212.6_ENST00000590076.1_RNA|DMPK_ENST00000354227.5_Missense_Mutation_p.R518L|AC074212.6_ENST00000591530.1_RNA			Q09013	DMPK_HUMAN	dystrophia myotonica-protein kinase	533					regulation of heart contraction		ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			endometrium(5)|kidney(1)|large_intestine(1)|lung(6)|stomach(1)|urinary_tract(2)	16		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00616)|GBM - Glioblastoma multiforme(486;0.0825)|Epithelial(262;0.24)		CAACTCCATCCGCTCCTGCAA	0.677													A	46274858	C	A	46274858	3	1	675	1	0	0	0	0	1	0	0	0	4623	652	23	4	344	4	DMPK	19	46274858	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	28621785	46274858	12854125	47	53176											
SIGLEC8	27181	broad.mit.edu	37	chr19	51961277	51961277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctctctagccgaaagaaaTatgaccccttatccctcttc	10	12	4	15	1	3	2	0	1	3	1	6	3	4	2	4	0	1	0	4	0	5	4			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:51961277T>C	ENST00000321424.3	-	1	431	c.365A>G	c.(364-366)tAt>tGt	p.Y122C	SIGLEC8_ENST00000430817.1_Missense_Mutation_p.Y122C|SIGLEC8_ENST00000340550.5_Missense_Mutation_p.Y122C	NM_014442.2	NP_055257.2	Q9NYZ4	SIGL8_HUMAN	sialic acid binding Ig-like lectin 8	122	Ig-like V-type.				cell adhesion	integral to membrane	sugar binding|transmembrane receptor activity			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(11)|liver(3)|lung(15)|ovary(2)|skin(4)|stomach(3)|urinary_tract(2)	50		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000627)|OV - Ovarian serous cystadenocarcinoma(262;0.00979)		CCGAAAGAAATATGACCCCTT	0.498													C	51961277	T	C	51961277	3	2	675	1	0	0	0	0	1	0	0	0	14408	1406	49	3	1162	3	SIGLEC8	19	51961277	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	5686419	51961277	7167706	48	53177											
ZNF761	388561	broad.mit.edu	37	chr19	53958524	53958524	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagctctttaatcagaagCgaaacctagcatgccatcgt	13	9	8	11	2	2	1	1	0	1	1	3	2	2	1	2	0	5	3	2	0	5	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr19:53958524C>T	ENST00000454407.1	+	0	1216							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		TAATCAGAAGCGAAACCTAGC	0.408													T	53958524	C	T	53958524	1	4	675	0	1	0	0	0	0	0	0	0	18236	760	27	1		1	ZNF761	19	53958524	RNA	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	1997247	53958524	5170459	49	53178											
CABIN1	23523	broad.mit.edu	37	chr22	24466846	24466846	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatggtgaactcaggtgaGgctgccgccaaggaggagtg	10	6	17	8	1	1	3	1	2	0	1	1	5	1	5	2	5	2	1	2	5	2	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24466846G>A	ENST00000398319.2	+	17	2713	c.2328G>A	c.(2326-2328)gaG>gaA	p.E776E	CABIN1_ENST00000405822.2_Silent_p.E726E|CABIN1_ENST00000263119.5_Silent_p.E776E	NM_001199281.1	NP_001186210.1	Q9Y6J0	CABIN_HUMAN	calcineurin binding protein 1	776					cell surface receptor linked signaling pathway|chromatin modification	nucleus	protein phosphatase inhibitor activity			breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(13)|liver(1)|lung(18)|ovary(5)|pancreas(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						ACTCAGGTGAGGCTGCCGCCA	0.582													A	24466846	G	A	24466846	2	1	675	1	0	0	0	0	0	0	0	1	2554	991	35	2		2	CABIN1	22	24466846	Silent	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08		24466846	26837720	50	53179											
GGT5	2687	broad.mit.edu	37	chr22	24621346	24621346	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaactgggggccagcacCttccgggagctccacccacc	7	5	12	17	1	0	0	0	0	0	0	2	2	2	2	6	4	3	2	6	4	1	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:24621346C>A	ENST00000327365.4	-	10	1786	c.1370G>T	c.(1369-1371)aGg>aTg	p.R457M	GGT5_ENST00000418439.2_Missense_Mutation_p.R381M|GGT5_ENST00000263112.7_Missense_Mutation_p.R425M|GGT5_ENST00000398292.3_Missense_Mutation_p.R458M	NM_001099781.1|NM_004121.2	NP_001093251.1|NP_004112.2	P36269	GGT5_HUMAN	gamma-glutamyltransferase 5	457					glutathione biosynthetic process|hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	integral to membrane|plasma membrane	acyltransferase activity|gamma-glutamyltransferase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(3)|skin(3)	28						GGGCCAGCACCTTCCGGGAGC	0.617													A	24621346	C	A	24621346	3	1	675	1	0	0	0	0	1	0	0	0	6418	681	24	4	402	4	GGT5	22	24621346	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	154500	24621346	26683220	51	53180											
ADSL	158	broad.mit.edu	37	chr22	40761013	40761013	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gtcccattcactcccagttgGatcatttactggatccttct	7	15	6	13	0	3	0	2	0	1	0	6	2	6	2	3	2	1	1	3	2	1	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chr22:40761013G>A	ENST00000216194.7	+	12	1377	c.1321G>A	c.(1321-1323)Gat>Aat	p.D441N	ADSL_ENST00000342312.6_Intron|ADSL_ENST00000454266.2_Missense_Mutation_p.D455N	NM_000026.2	NP_000017.1	P30566	PUR8_HUMAN	adenylosuccinate lyase	441					AMP biosynthetic process|protein tetramerization|purine base metabolic process	cytosol	(S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity|N6-(1,2-dicarboxyethyl)AMP AMP-lyase (fumarate-forming) activity			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(2)|ovary(1)|prostate(1)	19						CTCCCAGTTGGATCATTTACT	0.517													A	40761013	G	A	40761013	3	1	675	1	0	0	0	0	1	0	0	0	346	1174	41	2	1367	2	ADSL	22	40761013	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	16139667	40761013	10543553	52	53181											
PTCHD1	139411	broad.mit.edu	37	chrX	23410783	23410783	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaccactgccatgtaccTggtcacctttggcatagggg	7	11	10	13	0	2	0	2	0	1	0	3	0	2	0	4	4	2	2	4	4	2	3			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:23410783T>C	ENST00000379361.4	+	3	2008	c.1148T>C	c.(1147-1149)cTg>cCg	p.L383P		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	383	SSD.				cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						GCCATGTACCTGGTCACCTTT	0.473													C	23410783	T	C	23410783	3	2	675	1	0	0	0	0	1	0	0	0	12817	1580	55	3	1158	3	PTCHD1	23	23410783	Missense_Mutation	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08		23410783	131859777	53	53182											
NYX	60506	broad.mit.edu	37	chrX	41333727	41333727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccgcaacccgtggtgctgcGactgccgtctggagtggctg	4	9	15	13	4	1	0	0	0	1	0	2	2	2	1	3	3	4	3	3	3	1	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:41333727G>A	ENST00000342595.2	+	2	1477	c.1021G>A	c.(1021-1023)Gac>Aac	p.D341N	NYX_ENST00000378220.1_Missense_Mutation_p.D341N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	341	LRRCT.				response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						GTGGTGCTGCGACTGCCGTCT	0.706													A	41333727	G	A	41333727	3	1	675	1	0	0	0	0	1	0	0	0	10873	1058	37	1	1027	1	NYX	23	41333727	Missense_Mutation	SNP	G	TCGA-QH-A6X9-01A-12D-A32B-08	17922944	41333727	113936833	54	53183											
ATRX	546	broad.mit.edu	37	chrX	76920172	76920173	+	Frame_Shift_Ins	INS	-	-	T																															ttcattttgttttccagttcINStttttttcccttcttctggc																										TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:76920172_76920173insT	ENST00000373344.5	-	11	4118_4119	c.3904_3905insA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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)	TTTTCCAGTTCTTTTTTTCCCT	0.376			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76920173	-	T	76920172	7	5	675	1	0	1	1	0	0	0	0	0	1213	913	32	0	3673	0	ATRX	23	76920172	Frame_Shift_Ins	INS	-	TCGA-QH-A6X9-01A-12D-A32B-08	35586445	76920172	78350388	55	53184											
BCORL1	63035	broad.mit.edu	37	chrX	129189971	129189971	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggtggcctccagtcagctgCtgacccctgccgagaggcct	6	7	13	15	1	1	2	1	1	0	1	2	3	2	2	6	3	3	2	6	3	0	0			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:129189971C>T	ENST00000540052.1	+	12	5040	c.4996C>T	c.(4996-4998)Ctg>Ttg	p.L1666L	BCORL1_ENST00000218147.7_Silent_p.L1666L|BCORL1_ENST00000303743.5_Silent_p.L1740L|BCORL1_ENST00000359304.2_Silent_p.L1536L	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1666					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CAGTCAGCTGCTGACCCCTGC	0.617													T	129189971	C	T	129189971	2	4	675	1	0	0	0	0	0	0	0	1	1392	796	28	2		2	BCORL1	23	129189971	Silent	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	52269799	129189971	26080589	56	53185											
MAGEC1	9947	broad.mit.edu	37	chrX	140993967	140993967	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgagagaactcagagtacTtttgagggttttgcccagtc	9	13	11	8	0	2	4	1	2	1	2	3	5	2	4	1	1	3	2	1	1	2	5			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:140993967T>A	ENST00000285879.4	+	4	1063	c.777T>A	c.(775-777)acT>acA	p.T259T	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	259							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTCAGAGTACTTTTGAGGGTT	0.502										HNSCC(15;0.026)			A	140993967	T	A	140993967	2	1	675	1	0	0	0	0	0	0	0	1	9255	1596	56	5		5	MAGEC1	23	140993967	Silent	SNP	T	TCGA-QH-A6X9-01A-12D-A32B-08	11803996	140993967	14276593	57	53186											
LAGE3	8270	broad.mit.edu	37	chrX	153707094	153707094	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgcattcgtgaccccCtggccgcagacgcggcgtct	4	6	14	17	7	1	2	0	1	1	1	2	2	1	2	4	3	0	2	4	3	0	1			TCGA-QH-A6X9-01A-12D-A32B-08	TCGA-QH-A6X9-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	06e076ce-a099-496a-a118-34a496ecf085	2cf52792-dfc5-4836-b7e4-f695939350bb	g.chrX:153707094C>A	ENST00000357360.4	-	1	502	c.161G>T	c.(160-162)aGg>aTg	p.R54M	LAGE3_ENST00000407062.1_Missense_Mutation_p.R54M	NM_006014.4	NP_006005.2	Q14657	LAGE3_HUMAN	L antigen family, member 3	54							protein binding			lung(2)	2	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCGTGACCCCCTGGCCGCAGA	0.721													A	153707094	C	A	153707094	3	1	675	1	0	0	0	0	1	0	0	0	8660	681	24	4	282	4	LAGE3	23	153707094	Missense_Mutation	SNP	C	TCGA-QH-A6X9-01A-12D-A32B-08	12713127	153707094	1563466	58	53187											
IL22RA1	58985	broad.mit.edu	37	chr1	24447579	24447579	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccttcctccccactgtgtaGcacatttgggtcagatgttc	6	13	8	14	0	1	1	1	0	0	1	4	1	3	1	4	1	1	3	4	1	1	4			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr1:24447579G>A	ENST00000270800.1	-	7	1479	c.1441C>T	c.(1441-1443)Cta>Tta	p.L481L		NM_021258.3	NP_067081.2	Q8N6P7	I22R1_HUMAN	interleukin 22 receptor, alpha 1	481						integral to membrane	interferon receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(7)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	19		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000992)|all_lung(284;0.00138)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;3.84e-24)|Colorectal(126;6.43e-08)|COAD - Colon adenocarcinoma(152;3.51e-06)|GBM - Glioblastoma multiforme(114;5.06e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00104)|KIRC - Kidney renal clear cell carcinoma(1967;0.00371)|STAD - Stomach adenocarcinoma(196;0.00911)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.148)		CCACTGTGTAGCACATTTGGG	0.567													A	24447579	G	A	24447579	2	1	676	1	0	0	0	0	0	0	0	1	7731	962	34	2		2	IL22RA1	1	24447579	Silent	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		24447579	224803042	1	53188											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	676	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		209113112	34086261	2	53189											
NT5DC2	64943	broad.mit.edu	37	chr3	52563192	52563192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctcgatcaggatgtcacGggcggtactgaagatctcgg	8	9	15	9	4	3	2	2	1	1	1	5	4	3	3	0	4	2	2	0	4	2	1			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr3:52563192G>A	ENST00000307076.4	-	2	680	c.280C>T	c.(280-282)Cgt>Tgt	p.R94C	NT5DC2_ENST00000490681.1_5'UTR|NT5DC2_ENST00000422318.2_Missense_Mutation_p.R131C|NT5DC2_ENST00000459839.1_Missense_Mutation_p.R131C|NT5DC2_ENST00000307092.4_Missense_Mutation_p.R60C	NM_022908.2	NP_075059.1	Q9H857	NT5D2_HUMAN	5'-nucleotidase domain containing 2	94							hydrolase activity|metal ion binding			endometrium(1)|lung(3)|prostate(1)|stomach(1)	6				BRCA - Breast invasive adenocarcinoma(193;1.7e-05)|Kidney(197;0.00177)|KIRC - Kidney renal clear cell carcinoma(197;0.002)|OV - Ovarian serous cystadenocarcinoma(275;0.0476)		AGGATGTCACGGGCGGTACTG	0.597													A	52563192	G	A	52563192	3	1	676	1	0	0	0	0	1	0	0	0	10767	1116	39	1	1334	1	NT5DC2	3	52563192	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		52563192	145459238	3	53190											
TTC37	9652	broad.mit.edu	37	chr5	94834107	94834107	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatatttgtttttgcacaGccacactgcggccttggagt	8	14	10	9	1	0	1	0	0	0	1	0	2	0	2	2	2	3	2	2	2	2	6			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr5:94834107G>A	ENST00000358746.2	-	33	3828	c.3530C>T	c.(3529-3531)gCt>gTt	p.A1177V		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1177							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						TTTTTGCACAGCCACACTGCG	0.393													A	94834107	G	A	94834107	3	1	676	1	0	0	0	0	1	0	0	0	16807	971	34	2	1208	2	TTC37	5	94834107	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		94834107	86081153	4	53191											
AVL9	23080	broad.mit.edu	37	chr7	32582854	32582854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccttgccttaccagatggCgcacacaactaccaggaagg	11	8	9	13	1	0	1	0	0	0	1	1	2	1	2	4	3	4	1	4	3	4	4			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr7:32582854C>T	ENST00000318709.4	+	2	416	c.195C>T	c.(193-195)ggC>ggT	p.G65G	AVL9_ENST00000409301.1_Silent_p.G65G|AVL9_ENST00000404479.1_Silent_p.G65G	NM_015060.1	NP_055875.1	Q8NBF6	AVL9_HUMAN	AVL9 homolog (S. cerevisiase)	65						integral to membrane		p.G65G(2)		endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						TACCAGATGGCGCACACAACT	0.423													T	32582854	C	T	32582854	2	4	676	1	0	0	0	0	0	0	0	1	1233	755	27	1		1	AVL9	7	32582854	Silent	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		32582854	126555809	5	53192											
UNC5D	137970	broad.mit.edu	37	chr8	35563469	35563469	+	Frame_Shift_Del	DEL	A	A	-																															aaaaaacctcttcatgaaatAaaaccccaaagtaagttatt																										TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:35563469delA	ENST00000287272.2	+	7	959	c.939delA	c.(937-939)atafs	p.I313fs	UNC5D_ENST00000420357.1_Intron|UNC5D_ENST00000404895.2_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000416672.1_Frame_Shift_Del_p.I369fs|UNC5D_ENST00000453357.2_Frame_Shift_Del_p.I364fs			Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	369	TSP type-1 2.				apoptosis|axon guidance	integral to membrane	receptor activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		TTCATGAAATAAAACCCCAAA	0.289													-	35563469	A	-	35563469	7	5	676	1	0	1	0	1	0	0	0	0	17097	352	13	0	1137	0	UNC5D	8	35563469	Frame_Shift_Del	DEL	A	TCGA-QH-A6XA-01A-12D-A32B-08		35563469	110800553	6	53193											
POLB	5423	broad.mit.edu	37	chr8	42214719	42214719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgaaaaaagaattcctcGtgaagagatgttacaaatgc	16	11	8	6	1	0	4	0	2	0	2	2	5	1	4	1	0	2	1	1	0	7	3			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr8:42214719G>A	ENST00000265421.4	+	8	625	c.455G>A	c.(454-456)cGt>cAt	p.R152H	POLB_ENST00000538005.1_5'UTR	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	152					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	AGAATTCCTCGTGAAGAGATG	0.299								DNA polymerases (catalytic subunits)					A	42214719	G	A	42214719	3	1	676	1	0	0	0	0	1	0	0	0	12266	1145	40	1	485	1	POLB	8	42214719	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08	6651250	42214719	104149303	7	53194											
OBP2A	29991	broad.mit.edu	37	chr9	138441168	138441168	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgcaggaagctgcgttctcGaacactagggtgagtgagcc	9	8	14	10	2	1	2	0	2	1	0	2	4	1	3	1	2	5	3	1	2	3	2			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr9:138441168G>A	ENST00000539850.1	+	6	531	c.505G>A	c.(505-507)Gaa>Aaa	p.E169K	OBP2A_ENST00000371776.1_Missense_Mutation_p.E169K|OBP2A_ENST00000340780.3_Silent_p.S190S|OBP2A_ENST00000342114.4_Missense_Mutation_p.E146K			Q9NY56	OBP2A_HUMAN	odorant binding protein 2A	169					response to stimulus|sensory perception of smell	extracellular region	odorant binding|transporter activity			endometrium(1)|large_intestine(4)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	11				OV - Ovarian serous cystadenocarcinoma(145;3.39e-07)|Epithelial(140;1.11e-06)|all cancers(34;2.04e-05)		CTGCGTTCTCGAACACTAGGG	0.612													A	138441168	G	A	138441168	3	1	676	1	0	0	0	0	1	0	0	0	10886	1059	37	1	527	1	OBP2A	9	138441168	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		138441168	2772263	8	53195											
LRP5	4041	broad.mit.edu	37	chr11	68177463	68177463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actaccccgagggcatggccGttgactggatgggcaagaac	10	6	14	11	2	0	2	0	1	0	1	0	4	0	3	3	4	2	3	3	4	3	2			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr11:68177463G>A	ENST00000294304.7	+	10	2279	c.2173G>A	c.(2173-2175)Gtt>Att	p.V725I		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	725	Beta-propeller 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGGCATGGCCGTTGACTGGAT	0.632													A	68177463	G	A	68177463	3	1	676	1	0	0	0	0	1	0	0	0	9030	1145	40	1	2211	1	LRP5	11	68177463	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		68177463	66829053	9	53196											
TSPAN8	7103	broad.mit.edu	37	chr12	71531789	71531789	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttcactttcccctgtggCgctcaaaagctttgtgtttt	5	19	7	10	1	2	0	2	0	0	0	3	0	3	0	2	1	1	3	2	1	2	6	rs148575105		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:71531789C>T	ENST00000393330.2	-	9	940	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	TSPAN8_ENST00000552128.1_Missense_Mutation_p.A47T|TSPAN8_ENST00000546561.1_Missense_Mutation_p.A130T|TSPAN8_ENST00000247829.3_Missense_Mutation_p.A130T			P19075	TSN8_HUMAN	tetraspanin 8	130					protein glycosylation	integral to membrane|lysosome	signal transducer activity			breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TCCCCTGTGGCGCTCAAAAGC	0.343													T	71531789	C	T	71531789	3	4	676	1	0	0	0	0	1	0	0	0	16754	768	27	1	341	1	TSPAN8	12	71531789	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		71531789	62320106	10	53197											
SPPL3	121665	broad.mit.edu	37	chr12	121221497	121221497	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttctgaggtgagcagggTcttgttaaatactggcacat	9	14	12	6	0	2	2	0	2	2	0	2	2	2	2	0	3	2	4	0	3	3	5			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr12:121221497T>C	ENST00000353487.2	-	5	872	c.369A>G	c.(367-369)agA>agG	p.R123R		NM_139015.4	NP_620584.2	Q8TCT6	PSL4_HUMAN	signal peptide peptidase like 3	124						integral to membrane	aspartic-type endopeptidase activity					all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GTGAGCAGGGTCTTGTTAAAT	0.323													C	121221497	T	C	121221497	2	2	676	1	0	0	0	0	0	0	0	1	15186	1664	58	3		3	SPPL3	12	121221497	Silent	SNP	T	TCGA-QH-A6XA-01A-12D-A32B-08	49689708	121221497	12630398	11	53198											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	676	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		7577121	73618089	12	53199											
C1QTNF1	114897	broad.mit.edu	37	chr17	77042695	77042695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggggctccctgcttccCggtgcttgcgctgctgtgac	3	10	13	15	2	0	1	0	1	0	0	2	1	2	1	3	3	4	5	3	3	0	2			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr17:77042695C>T	ENST00000339142.2	+	4	769	c.214C>T	c.(214-216)Cgg>Tgg	p.R72W	C1QTNF1_ENST00000583904.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580474.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000392445.2_Missense_Mutation_p.R72W|C1QTNF1_ENST00000580454.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000581774.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000579760.1_Missense_Mutation_p.R72W|C1QTNF1_ENST00000311661.4_5'UTR|C1QTNF1_ENST00000578229.1_5'UTR|C1QTNF1_ENST00000354124.3_Missense_Mutation_p.R82W	NM_198593.3	NP_940995.1	Q9BXJ1	C1QT1_HUMAN	C1q and tumor necrosis factor related protein 1	72						collagen				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|ovary(2)	14			BRCA - Breast invasive adenocarcinoma(99;0.0294)|OV - Ovarian serous cystadenocarcinoma(97;0.201)			CCCTGCTTCCCGGTGCTTGCG	0.552											OREG0024791	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	77042695	C	T	77042695	3	4	676	1	0	0	0	0	1	0	0	0	1982	643	23	1	220	1	C1QTNF1	17	77042695	Missense_Mutation	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08	69465574	77042695	4152515	13	53200											
JPH2	57158	broad.mit.edu	37	chr20	42788536	42788536	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgaagcccgagcgtttgtcGttcttccactcgcccatgta	6	11	9	15	5	1	0	0	0	1	0	4	2	2	0	4	0	2	3	4	0	2	4			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chr20:42788536G>A	ENST00000372980.3	-	2	1763	c.891C>T	c.(889-891)aaC>aaT	p.N297N		NM_020433.4	NP_065166.2	Q9BR39	JPH2_HUMAN	junctophilin 2	297					calcium ion transport into cytosol|regulation of ryanodine-sensitive calcium-release channel activity	integral to membrane|junctional sarcoplasmic reticulum membrane|plasma membrane				NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(19)|prostate(1)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			AGCGTTTGTCGTTCTTCCACT	0.687													A	42788536	G	A	42788536	2	1	676	1	0	0	0	0	0	0	0	1	8019	1136	40	1		1	JPH2	20	42788536	Silent	SNP	G	TCGA-QH-A6XA-01A-12D-A32B-08		42788536	20236984	14	53201											
BCOR	54880	broad.mit.edu	37	chrX	39933591	39933591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcggggtgacggccgaggCgaggggggcaacaggagagc	9	2	21	9	4	0	2	0	1	0	1	1	5	0	2	1	8	2	1	1	8	1	0			TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:39933591C>T	ENST00000342274.4	-	4	1370	c.1008G>A	c.(1006-1008)tcG>tcA	p.S336S	BCOR_ENST00000378444.4_Silent_p.S336S|BCOR_ENST00000397354.3_Silent_p.S336S|BCOR_ENST00000378455.4_Silent_p.S336S	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	336					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACGGCCGAGGCGAGGGGGGCA	0.632			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39933591	C	T	39933591	2	4	676	1	0	0	0	0	0	0	0	1	1391	755	27	1		1	BCOR	23	39933591	Silent	SNP	C	TCGA-QH-A6XA-01A-12D-A32B-08		39933591	115336969	15	53202											
ATRX	546	broad.mit.edu	37	chrX	76938114	76938114	+	Frame_Shift_Del	DEL	A	A	-																															ctctcttgttttctttcagcAtcatcagatgatccttcttg																										TCGA-QH-A6XA-01A-12D-A32B-08	TCGA-QH-A6XA-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9bc5a06c-d927-4b55-992c-ab8e1e9c42d7	c9701f2b-93ac-400d-a98a-feb72ad6f6ae	g.chrX:76938114delA	ENST00000373344.5	-	9	2848	c.2634delT	c.(2632-2634)gatfs	p.D878fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.D840fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	878					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)	TTCTTTCAGCATCATCAGATG	0.388			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938114	A	-	76938114	7	5	676	1	0	1	0	1	0	0	0	0	1213	214	8	0	4952	0	ATRX	23	76938114	Frame_Shift_Del	DEL	A	TCGA-QH-A6XA-01A-12D-A32B-08	37004523	76938114	78332446	16	53203											
TIE1	7075	broad.mit.edu	37	chr1	43772556	43772556	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatgaagcccaggatgggcGgttcctgctgcagctcccaa	8	7	13	13	1	0	1	0	1	0	0	2	2	2	2	3	3	4	5	3	3	2	1	rs150406982		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:43772556G>A	ENST00000372476.3	+	4	609	c.530G>A	c.(529-531)cGg>cAg	p.R177Q	TIE1_ENST00000538015.1_Missense_Mutation_p.R177Q|TIE1_ENST00000441333.2_Missense_Mutation_p.R177Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	177					mesoderm development	integral to plasma membrane	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CAGGATGGGCGGTTCCTGCTG	0.602													A	43772556	G	A	43772556	3	1	677	1	0	0	0	0	1	0	0	0	15993	1116	39	1	544	1	TIE1	1	43772556	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		43772556	205478065	1	53204											
CA14	23632	broad.mit.edu	37	chr1	150234987	150234987	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaggctgctgagaggcctCagggcctggctgtcctgggc	4	8	18	11	0	1	2	1	2	0	1	2	3	2	2	3	5	1	3	3	5	0	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:150234987C>A	ENST00000369111.4	+	5	1433	c.463C>A	c.(463-465)Cag>Aag	p.Q155K		NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	155						integral to membrane	carbonate dehydratase activity|metal ion binding			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGAGAGGCCTCAGGGCCTGGC	0.498													A	150234987	C	A	150234987	3	1	677	1	0	0	0	0	1	0	0	0	2541	827	29	4	481	4	CA14	1	150234987	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	106462431	150234987	99015634	2	53205											
JTB	10899	broad.mit.edu	37	chr1	153947216	153947216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgtccaattgtcgctgaCgaatgatgacaagacaagcg	12	10	10	9	3	1	4	0	3	1	1	3	5	2	4	1	0	1	1	1	0	4	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:153947216C>T	ENST00000271843.4	-	5	815	c.380G>A	c.(379-381)cGt>cAt	p.R127H	JTB_ENST00000356648.1_Missense_Mutation_p.R98H|JTB_ENST00000368589.1_Missense_Mutation_p.R98H	NM_006694.3	NP_006685.1	O76095	JTB_HUMAN	jumping translocation breakpoint	127					apoptosis|cell cycle cytokinesis|mitosis|positive regulation of protein kinase activity	integral to plasma membrane|membrane fraction|microtubule organizing center|midbody|mitochondrion|spindle	protein kinase binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(6)	10	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			TTGTCGCTGACGAATGATGAC	0.498													T	153947216	C	T	153947216	3	4	677	1	0	0	0	0	1	0	0	0	8025	536	19	1	64	1	JTB	1	153947216	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	3712229	153947216	95303405	3	53206											
SEMA4A	64218	broad.mit.edu	37	chr1	156144877	156144877	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aatctccatctctcttccagGgtgcagtgtttgtaggcttc	6	15	9	11	0	3	0	0	0	3	0	7	0	4	0	2	2	1	4	2	2	2	4			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:156144877G>A	ENST00000368285.3	+	13	1702	c.1435G>A	c.(1435-1437)Ggt>Agt	p.G479S	SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368286.2_Splice_Site_p.G347S|SEMA4A_ENST00000368284.1_Splice_Site_p.G347S|SEMA4A_ENST00000368282.1_Splice_Site_p.G479S|SEMA4A_ENST00000355014.2_Splice_Site_p.G479S	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	479	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					TCTCTTCCAGGGTGCAGTGTT	0.607													A	156144877	G	A	156144877	5	1	677	1	0	0	0	0	0	0	1	0	14124	1246	43	2	1481	2	SEMA4A	1	156144877	Splice_Site	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2197661	156144877	93105744	4	53207											
SLC35F3	148641	broad.mit.edu	37	chr1	234452366	234452366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgtggccgccatcctcGccatcgctggcattgtgatg	6	11	12	12	3	0	2	0	1	0	1	3	2	1	2	4	2	0	2	4	2	0	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:234452366G>A	ENST00000366618.3	+	5	992	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	SLC35F3_ENST00000366617.3_Missense_Mutation_p.A214T	NM_173508.2	NP_775779.1	Q8IY50	S35F3_HUMAN	solute carrier family 35, member F3	214					transport	integral to membrane				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|urinary_tract(1)	32	Ovarian(103;0.0454)	all_cancers(173;0.145)|Prostate(94;0.0885)	OV - Ovarian serous cystadenocarcinoma(106;0.00531)			CGCCATCCTCGCCATCGCTGG	0.577													A	234452366	G	A	234452366	3	1	677	1	0	0	0	0	1	0	0	0	14684	1087	38	1	865	1	SLC35F3	1	234452366	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	78307489	234452366	14798255	5	53208											
KIF26B	55083	broad.mit.edu	37	chr1	245862232	245862232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgaagattctggaacaccGccagcagaggatcgccgagg	11	5	14	11	3	1	3	0	1	1	2	2	6	1	5	3	3	2	2	3	3	2	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr1:245862232G>A	ENST00000366518.4	+	11	5032	c.4928G>A	c.(4927-4929)cGc>cAc	p.R1643H	KIF26B_ENST00000407071.2_Missense_Mutation_p.R2024H			Q2KJY2	KI26B_HUMAN	kinesin family member 26B	2024					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	p.R2024H(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			CTGGAACACCGCCAGCAGAGG	0.572													A	245862232	G	A	245862232	3	1	677	1	0	0	0	0	1	0	0	0	8353	1087	38	1	6125	1	KIF26B	1	245862232	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	11409866	245862232	3388389	6	53209											
AGBL5	60509	broad.mit.edu	37	chr2	27278663	27278663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccaccatgtgcactctcGtctgaactcccagagttcct	8	11	6	16	1	2	2	0	1	2	1	5	2	4	2	4	0	3	2	4	0	2	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:27278663G>A	ENST00000360131.4	+	7	1181	c.1022G>A	c.(1021-1023)cGt>cAt	p.R341H	AGBL5_ENST00000323064.8_Missense_Mutation_p.R341H	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	341					protein branching point deglutamylation|proteolysis	cytosol|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					GTGCACTCTCGTCTGAACTCC	0.542													A	27278663	G	A	27278663	3	1	677	1	0	0	0	0	1	0	0	0	378	1145	40	1	1044	1	AGBL5	2	27278663	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		27278663	215920710	7	53210											
LY75	4065	broad.mit.edu	37	chr2	160692107	160692107	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccattagtttcagcccagCgactaaaatgaagacgtttc	12	10	8	11	2	1	2	1	1	0	1	2	3	1	2	2	0	2	2	2	0	4	4			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:160692107C>T	ENST00000263636.4	-	26	3584	c.3557G>A	c.(3556-3558)cGc>cAc	p.R1186H	LY75_ENST00000554112.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000504764.1_Missense_Mutation_p.R1186H|LY75_ENST00000553424.1_Missense_Mutation_p.R1186H|LY75-CD302_ENST00000505052.1_Missense_Mutation_p.R1186H	NM_002349.3	NP_002340.2			lymphocyte antigen 75											NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(22)|prostate(7)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	59				COAD - Colon adenocarcinoma(177;0.132)		TTCAGCCCAGCGACTAAAATG	0.413													T	160692107	C	T	160692107	3	4	677	1	0	0	0	0	1	0	0	0	9170	768	27	1	1651	1	LY75	2	160692107	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	133413444	160692107	82507266	8	53211											
C2orf69	205327	broad.mit.edu	37	chr2	200790016	200790028	+	Frame_Shift_Del	DEL	ATGTTATTAGTTA	ATGTTATTAGTTA	-																															gagcttttaagcacctttatAtgttattagttaatgctttt																										TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr2:200790016_200790028delATGTTATTAGTTA	ENST00000319974.5	+	2	748_760	c.565_577delATGTTATTAGTTA	c.(565-579)atgttattagttaatfs	p.MLLVN189fs	C2orf69_ENST00000491721.1_Intron	NM_153689.5	NP_710156.3	Q8N8R5	CB069_HUMAN	chromosome 2 open reading frame 69	189						extracellular region		p.L191L(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)|stomach(1)|urinary_tract(1)	11						GCACCTTTATATGTTATTAGTTAATGCTTTTAA	0.338													-	200790028	ATGTTATTAGTTA	-	200790016	7	5	677	1	0	1	0	1	0	0	0	0	2209	449	16	0	571	0	C2orf69	2	200790016	Frame_Shift_Del	DEL	ATGTTATTAGTTA	TCGA-QH-A6XC-01A-12D-A32B-08	40097909	200790016	42409357	9	53212											
ZBTB11	27107	broad.mit.edu	37	chr3	101370258	101370258	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgctttcttgttcctgcaTgcctgctgttaagatgctaa	7	16	8	10	0	1	1	0	0	1	1	2	1	2	1	2	0	5	6	2	0	2	5			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:101370258T>G	ENST00000312938.4	-	11	3494	c.2914A>C	c.(2914-2916)Atg>Ctg	p.M972L		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						TGTTCCTGCATGCCTGCTGTT	0.448													G	101370258	T	G	101370258	3	3	677	1	0	0	0	0	1	0	0	0	17625	1464	51	5	251	5	ZBTB11	3	101370258	Missense_Mutation	SNP	T	TCGA-QH-A6XC-01A-12D-A32B-08		101370258	96652172	10	53213											
TRAT1	50852	broad.mit.edu	37	chr3	108549621	108549621	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccactatgtggaaaagcaaCgacaaggtaagacattttga	16	8	9	8	1	0	2	0	1	0	1	0	4	0	3	1	2	2	2	1	2	6	4	rs148894492		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr3:108549621C>T	ENST00000295756.6	+	2	342	c.112C>T	c.(112-114)Cga>Tga	p.R38*	TRAT1_ENST00000493604.1_3'UTR|TRAT1_ENST00000426646.1_Intron	NM_016388.2	NP_057472.2	Q6PIZ9	TRAT1_HUMAN	T cell receptor associated transmembrane adaptor 1	38					cellular defense response|negative regulation of receptor recycling|negative regulation of transport|positive regulation of calcium-mediated signaling|positive regulation of T cell receptor signaling pathway|T cell receptor signaling pathway	integral to plasma membrane|T cell receptor complex	phosphatidylinositol-4,5-bisphosphate 3-kinase activity|transmembrane receptor protein tyrosine kinase adaptor activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(18)|prostate(1)|skin(3)	28						GGAAAAGCAACGACAAGGTAA	0.418													T	108549621	C	T	108549621	4	4	677	1	0	0	0	0	0	1	0	0	16567	528	19	1	118	1	TRAT1	3	108549621	Nonsense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	7179363	108549621	89472809	11	53214											
C4orf40	401137	broad.mit.edu	37	chr4	71024191	71024191	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgacacagggttaccttcGtatccctggattctaacttc	9	13	7	12	1	1	1	0	1	1	0	4	2	2	2	2	2	2	2	2	2	3	6			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:71024191G>A	ENST00000344526.5	+	3	411	c.222G>A	c.(220-222)tcG>tcA	p.S74S	C4orf40_ENST00000502294.1_Silent_p.S74S|C4orf40_ENST00000502441.2_Intron	NM_214711.3	NP_999876.2	Q6MZM9	CD040_HUMAN	chromosome 4 open reading frame 40	74						extracellular region				breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12						GGTTACCTTCGTATCCCTGGA	0.473													A	71024191	G	A	71024191	2	1	677	1	0	0	0	0	0	0	0	1	2291	1132	40	1		1	C4orf40	4	71024191	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		71024191	120130085	12	53215											
LRBA	987	broad.mit.edu	37	chr4	151236737	151236737	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gagaggatcgatttccactgGcagctggtatggctggtctt	7	12	14	8	1	1	1	0	0	1	1	3	4	2	2	1	5	1	4	1	5	1	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:151236737G>T	ENST00000535741.1	-	51	8142	c.7669C>A	c.(7669-7671)Cca>Aca	p.P2557T	LRBA_ENST00000503716.1_5'UTR|LRBA_ENST00000510413.1_Missense_Mutation_p.P2557T|LRBA_ENST00000507224.1_Missense_Mutation_p.P2557T|LRBA_ENST00000357115.3_Missense_Mutation_p.P2568T			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	2568						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					ATTTCCACTGGCAGCTGGTAT	0.383													T	151236737	G	T	151236737	3	4	677	1	0	0	0	0	1	0	0	0	9001	1203	42	4	917	4	LRBA	4	151236737	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	80212546	151236737	39917539	13	53216											
DCHS2	54798	broad.mit.edu	37	chr4	155176691	155176691	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtaggagctggtgagctcGtaatctagaatcgcttttgt	8	14	12	7	2	1	2	0	1	1	1	3	3	1	3	0	2	2	5	0	2	4	5			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr4:155176691G>A	ENST00000357232.4	-	21	5555	c.5556C>T	c.(5554-5556)taC>taT	p.Y1852Y		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TGGTGAGCTCGTAATCTAGAA	0.443													A	155176691	G	A	155176691	2	1	677	1	0	0	0	0	0	0	0	1	4322	1140	40	1		1	DCHS2	4	155176691	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	3939954	155176691	35977585	14	53217											
LRFN2	57497	broad.mit.edu	37	chr6	40359746	40359746	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggcccccaccaggtcaCtctcctcaaagggcaagagc	9	4	10	18	1	3	1	2	0	1	1	4	1	3	1	5	3	1	1	5	3	2	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:40359746C>A	ENST00000338305.6	-	3	2848	c.2306G>T	c.(2305-2307)aGt>aTt	p.S769I		NM_020737.1	NP_065788.1	Q9ULH4	LRFN2_HUMAN	leucine rich repeat and fibronectin type III domain containing 2	769						cell junction|integral to membrane|postsynaptic membrane				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	58	Ovarian(28;0.0418)|Colorectal(47;0.196)					CACCAGGTCACTCTCCTCAAA	0.642													A	40359746	C	A	40359746	3	1	677	1	0	0	0	0	1	0	0	0	9008	565	20	4	67	4	LRFN2	6	40359746	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		40359746	130755321	15	53218											
ROS1	6098	broad.mit.edu	37	chr6	117638325	117638325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgttgccatccgggctttaCgcaaataagtaagaaggtct	11	10	10	10	3	1	1	0	0	1	1	2	1	2	1	3	2	2	4	3	2	5	5	rs3752566	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:117638325C>T	ENST00000368508.3	-	38	6314	c.6116G>A	c.(6115-6117)cGt>cAt	p.R2039H	ROS1_ENST00000368507.3_Missense_Mutation_p.R2033H	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	2039	Protein kinase.		R -> H (in dbSNP:rs3752566).		transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		CCGGGCTTTACGCAAATAAGT	0.403			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								T	117638325	C	T	117638325	3	4	677	1	0	0	0	0	1	0	0	0	13622	536	19	1	951	1	ROS1	6	117638325	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	77278579	117638325	53476742	16	53219											
HBS1L	10767	broad.mit.edu	37	chr6	135290403	135290403	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttctttgtgacttcacccGtgcttttgtttaagacacta	7	19	6	9	1	2	2	1	1	1	1	2	2	2	2	1	0	1	2	1	0	2	9			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr6:135290403G>A	ENST00000367837.5	-	16	2077	c.1871C>T	c.(1870-1872)aCg>aTg	p.T624M	HBS1L_ENST00000367826.2_Missense_Mutation_p.T582M|HBS1L_ENST00000415177.2_Missense_Mutation_p.T559M|HBS1L_ENST00000367824.4_Missense_Mutation_p.T460M|HBS1L_ENST00000445176.2_Missense_Mutation_p.T348M|HBS1L_ENST00000527578.1_Missense_Mutation_p.T460M	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	624					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GACTTCACCCGTGCTTTTGTT	0.318													A	135290403	G	A	135290403	3	1	677	1	0	0	0	0	1	0	0	0	7042	1145	40	1	195	1	HBS1L	6	135290403	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	17652078	135290403	35824664	17	53220											
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000454757.2_Missense_Mutation_p.G545V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	677	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		55233043	103905620	18	53221											
AKAP9	10142	broad.mit.edu	37	chr7	91727520	91727520	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaaattaactggccagcaaGgtgaagaggtaatacttttt	15	11	10	5	0	0	3	0	1	0	2	0	3	0	3	1	3	3	2	1	3	6	5			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:91727520G>T	ENST00000359028.2	+	43	10942	c.10717G>T	c.(10717-10719)Ggt>Tgt	p.G3573C	AKAP9_ENST00000358100.2_Missense_Mutation_p.G3519C|AKAP9_ENST00000356239.3_Missense_Mutation_p.G3569C			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	3573					G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGGCCAGCAAGGTGAAGAGGT	0.303			T	BRAF	papillary thyroid								T	91727520	G	T	91727520	3	4	677	1	0	0	0	0	1	0	0	0	459	1000	35	4	10875	4	AKAP9	7	91727520	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	36494477	91727520	67411143	19	53222											
COL1A2	1278	broad.mit.edu	37	chr7	94038132	94038132	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcccaggtgcccctggcccCaaggtaaaaacactggtgac	10	7	10	14	0	0	1	0	1	0	0	1	1	1	1	5	4	2	1	5	4	4	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:94038132C>T	ENST00000297268.6	+	16	1260	c.789C>T	c.(787-789)ccC>ccT	p.P263P		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	263					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	p.P263P(1)	COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	CCCCTGGCCCCAAGGTAAAAA	0.433										HNSCC(75;0.22)			T	94038132	C	T	94038132	2	4	677	1	0	0	0	0	0	0	0	1	3709	581	21	2		2	COL1A2	7	94038132	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	2310612	94038132	65100531	20	53223											
RELN	5649	broad.mit.edu	37	chr7	103138353	103138353	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgttctcactaccgatgCgcccccagtattgcaggaac	8	11	9	13	2	1	0	1	0	1	0	2	2	1	1	3	1	4	4	3	1	3	5			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103138353C>T	ENST00000424685.2	-	55	9023	c.8864G>A	c.(8863-8865)cGc>cAc	p.R2955H	RELN_ENST00000343529.5_Missense_Mutation_p.R2955H|RELN_ENST00000428762.1_Missense_Mutation_p.R2955H|CTB-107G13.1_ENST00000422488.1_RNA			P78509	RELN_HUMAN	reelin	2955					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ACTACCGATGCGCCCCCAGTA	0.473													T	103138353	C	T	103138353	3	4	677	1	0	0	0	0	1	0	0	0	13308	768	27	1	1562	1	RELN	7	103138353	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	9100221	103138353	56000310	21	53224											
RELN	5649	broad.mit.edu	37	chr7	103629745	103629745	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccgcgcgcgccctcagcGtcgcccccagcaacagcgct	5	3	11	22	8	1	0	1	0	0	0	2	0	1	0	5	0	4	2	5	0	1	0	rs145135688	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:103629745G>A	ENST00000428762.1	-	1	218	c.59C>T	c.(58-60)aCg>aTg	p.T20M	RELN_ENST00000343529.5_Missense_Mutation_p.T20M|RELN_ENST00000424685.2_Missense_Mutation_p.T20M	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	20					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGCCCTCAGCGTCGCCCCCAG	0.736													A	103629745	G	A	103629745	3	1	677	1	0	0	0	0	1	0	0	0	13308	1145	40	1	10583	1	RELN	7	103629745	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	491392	103629745	55508918	22	53225											
MKRN1	23608	broad.mit.edu	37	chr7	140154464	140154464	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgacaacctcttcttcatcGttgtcaaaggggttgctgtt	7	15	10	9	1	4	1	2	1	2	0	5	1	4	1	1	2	2	4	1	2	2	5	rs147839699	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:140154464G>A	ENST00000255977.2	-	8	1526	c.1302C>T	c.(1300-1302)aaC>aaT	p.N434N	MKRN1_ENST00000437223.2_Silent_p.N168N|MKRN1_ENST00000474576.1_Silent_p.N370N	NM_013446.3	NP_038474.2	Q9UHC7	MKRN1_HUMAN	makorin ring finger protein 1	434							ligase activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|skin(1)	16	Melanoma(164;0.00956)					CTTCTTCATCGTTGTCAAAGG	0.498													A	140154464	G	A	140154464	2	1	677	1	0	0	0	0	0	0	0	1	9681	1136	40	1		1	MKRN1	7	140154464	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	36524719	140154464	18984199	23	53226											
KEL	3792	broad.mit.edu	37	chr7	142658889	142658889	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggccacttacctcttggCtccagagagttcccattcca	8	10	9	14	0	1	1	0	0	1	1	4	3	4	2	5	3	1	2	5	3	1	4			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr7:142658889C>A	ENST00000355265.2	-	2	548	c.74G>T	c.(73-75)aGc>aTc	p.S25I	KEL_ENST00000479768.2_5'UTR	NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	25					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					TACCTCTTGGCTCCAGAGAGT	0.537													A	142658889	C	A	142658889	3	1	677	1	0	0	0	0	1	0	0	0	8200	797	28	4	2196	4	KEL	7	142658889	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	2504425	142658889	16479774	24	53227											
PRSS55	203074	broad.mit.edu	37	chr8	10388838	10388838	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtgtcgtgctggggaccaaCgacttaactagcccatccat	10	9	10	12	2	0	0	0	0	0	0	2	2	1	1	3	2	4	1	3	2	3	2	rs35035741		TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr8:10388838C>T	ENST00000328655.3	+	3	421	c.381C>T	c.(379-381)aaC>aaT	p.N127N	PRSS51_ENST00000523024.1_RNA|PRSS55_ENST00000522210.1_Silent_p.N127N	NM_198464.3	NP_940866.2	Q6UWB4	PRS55_HUMAN	protease, serine, 55	127	Peptidase S1.				proteolysis	integral to membrane	serine-type endopeptidase activity	p.N127N(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)	31						TGGGGACCAACGACTTAACTA	0.507													T	10388838	C	T	10388838	2	4	677	1	0	0	0	0	0	0	0	1	12719	535	19	1		1	PRSS55	8	10388838	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		10388838	135975184	25	53228											
TLN1	7094	broad.mit.edu	37	chr9	35724224	35724224	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcagctgtacagggtcccGggaatccacattctggtctg	7	11	12	11	1	3	0	1	0	2	0	5	1	5	1	2	3	2	3	2	3	2	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:35724224G>A	ENST00000314888.9	-	6	972	c.619C>T	c.(619-621)Cgg>Tgg	p.R207W	TLN1_ENST00000540444.1_Missense_Mutation_p.R207W	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	207	FERM.				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ACAGGGTCCCGGGAATCCACA	0.587													A	35724224	G	A	35724224	3	1	677	1	0	0	0	0	1	0	0	0	16047	1115	39	1	7214	1	TLN1	9	35724224	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		35724224	105489207	26	53229											
TRPM6	140803	broad.mit.edu	37	chr9	77415326	77415326	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgagttcatacgtcaaCagcgtcatggccatgcgctc	8	11	9	13	3	3	1	3	1	0	0	5	1	4	1	2	1	4	2	2	1	2	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:77415326C>T	ENST00000451710.3	-	17	2319	c.2082G>A	c.(2080-2082)ctG>ctA	p.L694L	TRPM6_ENST00000360774.1_Silent_p.L694L|TRPM6_ENST00000376872.3_Intron|TRPM6_ENST00000361255.3_Silent_p.L689L|TRPM6_ENST00000449912.2_Silent_p.L689L|TRPM6_ENST00000376871.3_Intron|TRPM6_ENST00000376864.4_Silent_p.L694L			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	694					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						CATACGTCAACAGCGTCATGG	0.507													T	77415326	C	T	77415326	2	4	677	1	0	0	0	0	0	0	0	1	16691	465	17	2		2	TRPM6	9	77415326	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	41691102	77415326	63798105	27	53230											
CLIC3	9022	broad.mit.edu	37	chr9	139889191	139889191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcggcgctgtgcggacacGtgtatttgaactctttctcc	5	14	10	12	4	3	1	0	1	3	0	5	2	3	2	1	2	2	2	1	2	2	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr9:139889191G>A	ENST00000494426.1	-	6	912	c.653C>T	c.(652-654)aCg>aTg	p.T218M	CLIC3_ENST00000480181.1_5'UTR	NM_004669.2	NP_004660.2	O95833	CLIC3_HUMAN	chloride intracellular channel 3	218	GST C-terminal.				signal transduction	chloride channel complex|cytoplasm|nucleus	protein binding|voltage-gated chloride channel activity			lung(1)|skin(1)	2	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GTGCGGACACGTGTATTTGAA	0.682													A	139889191	G	A	139889191	3	1	677	1	0	0	0	0	1	0	0	0	3558	1145	40	1	61	1	CLIC3	9	139889191	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	62473865	139889191	1324240	28	53231											
A1CF	29974	broad.mit.edu	37	chr10	52575967	52575967	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccttccacctgtgcctcGggtatacctaacataactgt	8	11	7	15	1	0	0	0	0	0	0	2	0	1	0	6	1	4	1	6	1	4	5			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:52575967G>A	ENST00000374001.2	-	8	1079	c.940C>T	c.(940-942)Cga>Tga	p.R314*	A1CF_ENST00000493415.1_5'UTR|A1CF_ENST00000395495.1_Nonsense_Mutation_p.R259*|ASAH2B_ENST00000483649.1_Intron|A1CF_ENST00000373997.3_Nonsense_Mutation_p.R314*|A1CF_ENST00000373993.1_Nonsense_Mutation_p.R314*|A1CF_ENST00000395489.2_Nonsense_Mutation_p.R307*|A1CF_ENST00000373995.3_Nonsense_Mutation_p.R322*|A1CF_ENST00000282641.2_Nonsense_Mutation_p.R314*			Q9NQ94	A1CF_HUMAN	APOBEC1 complementation factor						cytidine to uridine editing|mRNA modification|mRNA processing|protein stabilization	apolipoprotein B mRNA editing enzyme complex|endoplasmic reticulum|nucleoplasm	nucleotide binding|protein binding|single-stranded RNA binding			NS(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(14)|prostate(2)|skin(3)	29						CCTGTGCCTCGGGTATACCTA	0.493													A	52575967	G	A	52575967	4	1	677	1	0	0	0	0	0	1	0	0	2	1124	39	1	864	1	A1CF	10	52575967	Nonsense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		52575967	82958780	29	53232											
KIF20B	9585	broad.mit.edu	37	chr10	91486211	91486211	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctaaagtttaatcaaattaaAgctgaattagctaaaaccaa	20	11	4	6	0	1	1	1	1	0	0	1	1	1	1	1	0	3	3	1	0	11	6			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr10:91486211A>G	ENST00000416354.1	+	16	2235	c.2163A>G	c.(2161-2163)aaA>aaG	p.K721K	KIF20B_ENST00000478929.1_3'UTR|KIF20B_ENST00000394289.2_Silent_p.K721K|KIF20B_ENST00000371728.3_Silent_p.K721K|KIF20B_ENST00000260753.4_Silent_p.K681K			Q96Q89	KI20B_HUMAN	kinesin family member 20B	721					cell cycle arrest|cell division|microtubule-based movement|mitosis|regulation of mitosis	centrosome|microtubule|nucleolus|nucleoplasm|spindle	ATP binding|ATPase activity|microtubule motor activity|WW domain binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	58						ATCAAATTAAAGCTGAATTAG	0.303													G	91486211	A	G	91486211	2	3	677	1	0	0	0	0	0	0	0	1	8345	69	3	3		3	KIF20B	10	91486211	Silent	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08	38910244	91486211	44048536	30	53233											
LUZP2	338645	broad.mit.edu	37	chr11	24936025	24936025	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgtttttgccttacagtcaAaaaaaatccaagcccagctg	14	11	6	10	0	1	0	1	0	0	0	2	0	2	0	3	0	4	2	3	0	6	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:24936025A>G	ENST00000533227.1	+	7	492	c.205A>G	c.(205-207)Aaa>Gaa	p.K69E	LUZP2_ENST00000336930.6_Missense_Mutation_p.K155E	NM_001009909.3|NM_001252008.1	NP_001009909.2|NP_001238937.1	Q86TE4	LUZP2_HUMAN	leucine zipper protein 2	155						extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(11)|lung(12)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	32						CTTACAGTCAAAAAAAATCCA	0.348													G	24936025	A	G	24936025	3	3	677	1	0	0	0	0	1	0	0	0	9157	15	1	3	489	3	LUZP2	11	24936025	Missense_Mutation	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08		24936025	110070491	31	53234											
MTMR2	8898	broad.mit.edu	37	chr11	95569452	95569453	+	Frame_Shift_Del	DEL	TG	TG	-																															gtcttccagctggctgtttaTgtaagaccacagtgacacag																										TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr11:95569452_95569453delTG	ENST00000393223.3	-	16	2075_2076	c.1413_1414delCA	c.(1411-1416)tacatafs	p.I472fs	MTMR2_ENST00000409459.1_Frame_Shift_Del_p.I472fs|MTMR2_ENST00000346299.5_Frame_Shift_Del_p.I544fs|MTMR2_ENST00000352297.7_Frame_Shift_Del_p.I472fs	NM_001243571.1|NM_201278.2	NP_001230500.1|NP_958435.1	Q13614	MTMR2_HUMAN	myotubularin related protein 2	544	Myotubularin phosphatase.					nucleus	inositol or phosphatidylinositol phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.Y471Y(1)		autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	19		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TGGCTGTTTATGTAAGACCACA	0.431													-	95569453	TG	-	95569452	7	5	677	1	0	1	0	1	0	0	0	0	10020	1464	51	0	309	0	MTMR2	11	95569452	Frame_Shift_Del	DEL	TG	TCGA-QH-A6XC-01A-12D-A32B-08	70633427	95569452	39437064	32	53235											
CLEC9A	283420	broad.mit.edu	37	chr12	10218182	10218182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttcgtctaactgcagcaCgtggaagtattttatctgtg	8	16	9	8	2	3	0	0	0	3	0	4	1	3	1	0	1	3	3	0	1	4	5			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:10218182C>T	ENST00000355819.1	+	9	1290	c.677C>T	c.(676-678)aCg>aTg	p.T226M		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	226	C-type lectin.				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						AACTGCAGCACGTGGAAGTAT	0.423													T	10218182	C	T	10218182	3	4	677	1	0	0	0	0	1	0	0	0	3553	536	19	1	699	1	CLEC9A	12	10218182	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		10218182	123633713	33	53236											
GLS2	27165	broad.mit.edu	37	chr12	56873645	56873645	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgctcatgcagtctcggAgccgaggatctgatgtctgc	6	11	12	12	3	5	1	1	1	4	0	7	4	5	3	1	2	3	2	1	2	0	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr12:56873645A>C	ENST00000311966.4	-	3	601	c.323T>G	c.(322-324)cTc>cGc	p.L108R	GLS2_ENST00000539272.1_Missense_Mutation_p.L108R	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	108					cellular amino acid biosynthetic process|glutamate secretion|glutamine metabolic process|neurotransmitter secretion	mitochondrial matrix	glutaminase activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	GCAGTCTCGGAGCCGAGGATC	0.537													C	56873645	A	C	56873645	3	2	677	1	0	0	0	0	1	0	0	0	6520	304	11	5	1549	5	GLS2	12	56873645	Missense_Mutation	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08	46655463	56873645	76978250	34	53237											
NID2	22795	broad.mit.edu	37	chr14	52535572	52535572	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tcgtcgtcgccttcctgcagGagctggtccccccacgactc	4	9	10	18	4	0	0	0	0	0	0	6	2	2	1	5	2	2	2	5	2	0	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:52535572G>C	ENST00000216286.5	-	1	140	c.141C>G	c.(139-141)ctC>ctG	p.L47L	NID2_ENST00000541773.1_Intron	NM_007361.3	NP_031387.3	Q14112	NID2_HUMAN	nidogen 2 (osteonidogen)	47						basement membrane	calcium ion binding|collagen binding			NS(1)|breast(5)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(40)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	87	Breast(41;0.0639)|all_epithelial(31;0.123)					CTTCCTGCAGGAGCTGGTCCC	0.622													C	52535572	G	C	52535572	2	2	677	1	0	0	0	0	0	0	0	1	10491	1161	41	4		4	NID2	14	52535572	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		52535572	54813968	35	53238											
SETD3	84193	broad.mit.edu	37	chr14	99871554	99871554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctacgtacgtggggatgccgGcacgagccaagacctcggcc	8	5	14	14	5	0	1	0	0	0	1	1	3	0	2	4	4	4	2	4	4	3	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr14:99871554G>A	ENST00000331768.5	-	10	1238	c.1079C>T	c.(1078-1080)gCc>gTc	p.A360V		NM_032233.2	NP_115609.2	Q86TU7	SETD3_HUMAN	SET domain containing 3	360					peptidyl-lysine dimethylation|peptidyl-lysine monomethylation|peptidyl-lysine trimethylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	histone methyltransferase activity (H3-K36 specific)|transcription coactivator activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25		all_cancers(154;0.224)|all_epithelial(191;0.0644)|Melanoma(154;0.0866)				GGGGATGCCGGCACGAGCCAA	0.428													A	99871554	G	A	99871554	3	1	677	1	0	0	0	0	1	0	0	0	14225	1203	42	2	721	2	SETD3	14	99871554	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	47335982	99871554	7477986	36	53239											
HERC1	8925	broad.mit.edu	37	chr15	63970180	63970180	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaagaccagcatcaactcCtcctatcacagccagcacgg	12	7	6	16	1	3	1	2	0	1	1	5	1	5	1	4	1	4	2	4	1	3	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr15:63970180C>A	ENST00000443617.2	-	37	7021	c.6934G>T	c.(6934-6936)Gga>Tga	p.G2312*	RP11-317G6.1_ENST00000559303.2_RNA	NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	2312					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						GCATCAACTCCTCCTATCACA	0.562													A	63970180	C	A	63970180	4	1	677	1	0	0	0	0	0	1	0	0	7112	690	24	4	7819	4	HERC1	15	63970180	Nonsense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		63970180	38561212	37	53240											
ZC3H18	124245	broad.mit.edu	37	chr16	88695241	88695241	+	Frame_Shift_Del	DEL	C	C	-																															gccctcctccagccaagcggCccaacacatccccagaccga																										TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr16:88695241delC	ENST00000301011.5	+	16	2745	c.2545delC	c.(2545-2547)cccfs	p.P849fs	ZC3H18_ENST00000452588.2_Frame_Shift_Del_p.P873fs	NM_144604.3	NP_653205.3	Q86VM9	ZCH18_HUMAN	zinc finger CCCH-type containing 18	849						nucleus	nucleic acid binding|zinc ion binding			endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(9)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	42				BRCA - Breast invasive adenocarcinoma(80;0.0542)		AGCCAAGCGGCCCAACACATC	0.642													-	88695241	C	-	88695241	7	5	677	1	0	1	0	1	0	0	0	0	17669	739	26	0	2603	0	ZC3H18	16	88695241	Frame_Shift_Del	DEL	C	TCGA-QH-A6XC-01A-12D-A32B-08		88695241	1659512	38	53241											
SPNS3	201305	broad.mit.edu	37	chr17	4352564	4352564	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcgaccctcggagtgaccGccatggcctttgtgactgga	6	9	14	12	3	0	2	0	2	0	0	2	5	0	4	4	4	0	0	4	4	0	1	rs147966930	byFrequency	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:4352564G>A	ENST00000355530.2	+	7	1085	c.805G>A	c.(805-807)Gcc>Acc	p.A269T	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Missense_Mutation_p.A142T	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	269					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						CGGAGTGACCGCCATGGCCTT	0.657													A	4352564	G	A	4352564	3	1	677	1	0	0	0	0	1	0	0	0	15172	1087	38	1	831	1	SPNS3	17	4352564	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		4352564	76842646	39	53242											
ZNF594	84622	broad.mit.edu	37	chr17	5085347	5085348	+	Frame_Shift_Del	DEL	AA	AA	-																															aaggttttctcacattcttcAagtttctctccagcatgcag																										TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:5085347_5085348delAA	ENST00000399604.4	-	1	2344_2345	c.2204_2205delTT	c.(2203-2205)cttfs	p.L735fs	ZNF594_ENST00000575779.1_Frame_Shift_Del_p.L735fs			Q96JF6	ZN594_HUMAN	zinc finger protein 594	735					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(3)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						CACATTCTTCAAGTTTCTCTCC	0.426													-	5085348	AA	-	5085347	7	5	677	1	0	1	0	1	0	0	0	0	18125	117	5	0	222	0	ZNF594	17	5085347	Frame_Shift_Del	DEL	AA	TCGA-QH-A6XC-01A-12D-A32B-08	732783	5085347	76109863	40	53243											
DNAH2	146754	broad.mit.edu	37	chr17	7710584	7710584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttccagcctgatatcatcGgccgcgtctccctggctgcc	5	10	9	17	3	2	1	1	1	1	0	5	1	3	1	5	2	2	1	5	2	1	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:7710584G>A	ENST00000572933.1	+	62	11019	c.9559G>A	c.(9559-9561)Ggc>Agc	p.G3187S	DNAH2_ENST00000389173.2_Missense_Mutation_p.G3187S			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3187	Stalk (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGATATCATCGGCCGCGTCTC	0.587													A	7710584	G	A	7710584	3	1	677	1	0	0	0	0	1	0	0	0	4641	1116	39	1	9801	1	DNAH2	17	7710584	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2625237	7710584	73484626	41	53244											
GAS7	8522	broad.mit.edu	37	chr17	9829985	9829985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accgaggcatagcggctggcGagctgcttgcgaaggtcggc	7	6	17	11	5	0	0	0	0	0	0	1	3	0	0	1	5	4	4	1	5	2	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:9829985G>A	ENST00000323816.4	-	11	969	c.807C>T	c.(805-807)ctC>ctT	p.L269L	GAS7_ENST00000437099.2_Silent_p.L265L|GAS7_ENST00000585266.1_Silent_p.L269L|GAS7_ENST00000583882.1_Intron|GAS7_ENST00000396115.2_Intron|GAS7_ENST00000432992.2_Silent_p.L329L|GAS7_ENST00000579158.1_Silent_p.L265L|GAS7_ENST00000580865.1_Silent_p.L189L|GAS7_ENST00000540214.1_Intron|GAS7_ENST00000542249.1_Silent_p.L265L			O60861	GAS7_HUMAN	growth arrest-specific 7	333	FCH.				cell cycle arrest	cytoplasm	sequence-specific DNA binding transcription factor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(7)|lung(18)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	39						AGCGGCTGGCGAGCTGCTTGC	0.602			T	MLL	AML*								A	9829985	G	A	9829985	2	1	677	1	0	0	0	0	0	0	0	1	6304	1045	37	1		1	GAS7	17	9829985	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	2119401	9829985	71365225	42	53245											
MYH13	8735	broad.mit.edu	37	chr17	10248578	10248578	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagtcaatgaactcccactCgatgccttccttcttgtact	9	13	6	13	1	2	1	1	1	1	0	5	3	4	1	3	0	3	1	3	0	4	4			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:10248578C>T	ENST00000418404.3	-	14	1688	c.1525G>A	c.(1525-1527)Gag>Aag	p.E509K	MYH13_ENST00000252172.4_Missense_Mutation_p.E509K			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	509	Myosin head-like.				muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						AACTCCCACTCGATGCCTTCC	0.512													T	10248578	C	T	10248578	3	4	677	1	0	0	0	0	1	0	0	0	10108	893	31	1	4399	1	MYH13	17	10248578	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	418593	10248578	70946632	43	53246											
CACNA1G	8913	broad.mit.edu	37	chr17	48683269	48683269	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgtccagctcttcaaagGgaagtttttcgtgtgccagg	7	13	13	8	1	2	0	1	0	1	0	4	1	3	1	2	2	2	2	2	2	2	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:48683269G>A	ENST00000352832.5	+	22	4610	c.4238G>A	c.(4237-4239)gGg>gAg	p.G1413E	CACNA1G_ENST00000502264.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000360761.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000358244.5_Missense_Mutation_p.G1413E|CACNA1G_ENST00000515765.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510366.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000429973.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514181.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000510115.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000442258.2_Missense_Mutation_p.G1413E|CACNA1G_ENST00000505165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000359106.5_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507896.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507510.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515165.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000503485.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000416767.4_Missense_Mutation_p.G1436E|CACNA1G_ENST00000514717.1_Missense_Mutation_p.G1413E|CACNA1G_ENST00000514079.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000512389.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513964.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000507609.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000513689.2_Missense_Mutation_p.G1436E|CACNA1G_ENST00000354983.4_Missense_Mutation_p.G1413E|CACNA1G_ENST00000507336.1_Missense_Mutation_p.G1436E|CACNA1G_ENST00000515411.1_Missense_Mutation_p.G1436E	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1436					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCTTCAAAGGGAAGTTTTTC	0.567													A	48683269	G	A	48683269	3	1	677	1	0	0	0	0	1	0	0	0	2570	1232	43	2	4397	2	CACNA1G	17	48683269	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	38434691	48683269	32511941	44	53247											
STXBP4	252983	broad.mit.edu	37	chr17	53150436	53150439	+	Splice_Site	DEL	AAGT	AAGT	-																															tgattattctgaccaaaataAagtaagcaaagcagtcatct																										TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr17:53150436_53150439delAAGT	ENST00000376352.2	+	13	1394_1395	c.1187_1188delAAGT	c.(1186-1188)aaa>a	p.K396fs	STXBP4_ENST00000434978.2_Splice_Site_p.K374fs	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	396						cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						GACCAAAATAAAGTAAGCAAAGCA	0.407													-	53150439	AAGT	-	53150436	8	5	677	1	0	1	0	1	0	0	1	0	15451	28	1	0	1229	0	STXBP4	17	53150436	Splice_Site	DEL	AAGT	TCGA-QH-A6XC-01A-12D-A32B-08	4467167	53150436	28044774	45	53248											
LAMA1	284217	broad.mit.edu	37	chr18	6985310	6985310	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaccaggtcgactgcgttCctttgggacatgtgcatgac	8	11	12	10	2	0	2	0	1	0	1	2	4	1	3	2	2	2	2	2	2	1	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:6985310C>A	ENST00000389658.3	-	39	5679	c.5586G>T	c.(5584-5586)agG>agT	p.R1862S		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	1862	Domain II and I.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CGACTGCGTTCCTTTGGGACA	0.502													A	6985310	C	A	6985310	3	1	677	1	0	0	0	0	1	0	0	0	8664	854	30	4	3741	4	LAMA1	18	6985310	Missense_Mutation	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		6985310	71091938	46	53249											
DSC3	1825	broad.mit.edu	37	chr18	28598767	28598767	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgagtacttgtctacaacCtggaaacaaagcaaatattt	17	11	6	7	0	1	1	0	1	1	0	1	2	1	2	1	1	5	2	1	1	8	5			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:28598767C>T	ENST00000434452.1	-	8	1097		c.e8-1		DSC3_ENST00000360428.4_Splice_Site	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3						homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			TGTCTACAACCTGGAAACAAA	0.333													T	28598767	C	T	28598767	5	4	677	1	0	0	0	0	0	0	1	0	4806	695	24	2	1815	2	DSC3	18	28598767	Splice_Site	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	21613457	28598767	49478481	47	53250											
DCC	1630	broad.mit.edu	37	chr18	51013239	51013239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcctcccgtctcccacctGtggatatccccacccgcagt	7	9	6	19	2	1	0	0	0	1	0	5	1	4	1	7	1	0	1	7	1	2	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr18:51013239G>A	ENST00000442544.2	+	26	4425	c.3809G>A	c.(3808-3810)tGt>tAt	p.C1270Y	RP11-671P2.1_ENST00000582064.1_RNA|DCC_ENST00000581580.1_Missense_Mutation_p.C905Y	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	deleted in colorectal carcinoma	1270					apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCCACCTGTGGATATCCC	0.542													A	51013239	G	A	51013239	3	1	677	1	0	0	0	0	1	0	0	0	4316	1377	48	2	3911	2	DCC	18	51013239	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	22414472	51013239	27064009	48	53251											
PSG7	5676	broad.mit.edu	37	chr19	43433784	43433784	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaggtagcttgcatctggAgtctcaggatcacaggttaa	11	10	11	9	0	3	0	2	0	2	0	4	2	3	2	0	4	2	4	0	4	2	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:43433784A>G	ENST00000446844.3	-	0	608				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				TTGCATCTGGAGTCTCAGGAT	0.527													G	43433784	A	G	43433784	1	3	677	0	1	0	0	0	0	0	0	0	12745	291	11	3		3	PSG7	19	43433784	RNA	SNP	A	TCGA-QH-A6XC-01A-12D-A32B-08		43433784	15695199	49	53252											
KLK5	25818	broad.mit.edu	37	chr19	51453167	51453167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatgcaccaacaccgccccGcagtagagctggttgggcct	8	6	13	14	2	0	1	0	0	0	1	0	2	0	2	5	3	3	5	5	3	2	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:51453167G>A	ENST00000336334.3	-	3	631	c.279C>T	c.(277-279)tgC>tgT	p.C93C	KLK5_ENST00000593428.1_Silent_p.C93C|KLK5_ENST00000391809.2_Silent_p.C93C	NM_012427.4	NP_036559	Q9Y337	KLK5_HUMAN	kallikrein-related peptidase 5	93	Peptidase S1.				epidermis development|positive regulation of G-protein coupled receptor protein signaling pathway|proteolysis	extracellular space	protein binding|serine-type endopeptidase activity			NS(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00379)|GBM - Glioblastoma multiforme(134;0.00888)		ACACCGCCCCGCAGTAGAGCT	0.627													A	51453167	G	A	51453167	2	1	677	1	0	0	0	0	0	0	0	1	8465	1079	38	1		1	KLK5	19	51453167	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	8019383	51453167	7675816	50	53253											
USP29	57663	broad.mit.edu	37	chr19	57642572	57642572	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aattcaggccattacatcagCgatgtgtatgactttcagaa	13	12	8	8	1	3	2	3	1	0	1	3	3	3	2	1	1	2	1	1	1	4	4			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr19:57642572C>T	ENST00000254181.4	+	4	2983	c.2529C>T	c.(2527-2529)agC>agT	p.S843S	USP29_ENST00000598197.1_Silent_p.S843S	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	843					protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		ATTACATCAGCGATGTGTATG	0.483													T	57642572	C	T	57642572	2	4	677	1	0	0	0	0	0	0	0	1	17161	767	27	1		1	USP29	19	57642572	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	6189405	57642572	1486411	51	53254											
TGM6	343641	broad.mit.edu	37	chr20	2375141	2375141	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagcggtcgaggaatggCgctgcccaccacacccagga	9	4	14	14	3	0	0	0	0	0	0	1	3	0	2	3	5	2	2	3	5	1	0	rs147506152	by1000genomes	TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr20:2375141C>T	ENST00000202625.2	+	2	112	c.51C>T	c.(49-51)ggC>ggT	p.G17G	TGM6_ENST00000381423.1_Silent_p.G17G|TGM6_ENST00000477505.1_3'UTR	NM_198994.2	NP_945345.2	O95932	TGM3L_HUMAN	transglutaminase 6	17					cell death|peptide cross-linking		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	p.G17G(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(2)|lung(32)|ovary(4)|prostate(1)|skin(4)	52					L-Glutamine(DB00130)	CGAGGAATGGCGCTGCCCACC	0.647													T	2375141	C	T	2375141	2	4	677	1	0	0	0	0	0	0	0	1	15934	755	27	1		1	TGM6	20	2375141	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08		2375141	60650379	52	53255											
MEI1	150365	broad.mit.edu	37	chr22	42166858	42166858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tctgggaagagagcagctatGaggaactggatgatgtcacc	12	8	14	7	0	2	3	1	2	1	1	2	7	2	6	1	3	3	2	1	3	3	1			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:42166858G>A	ENST00000401548.3	+	20	2477	c.2437G>A	c.(2437-2439)Gag>Aag	p.E813K	MEI1_ENST00000400107.1_Missense_Mutation_p.E181K|MEI1_ENST00000300398.4_5'UTR|MEI1_ENST00000540880.1_Missense_Mutation_p.E131K	NM_152513.3	NP_689726.3	Q5TIA1	MEI1_HUMAN	meiosis inhibitor 1	813							binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GAGCAGCTATGAGGAACTGGA	0.542													A	42166858	G	A	42166858	3	1	677	1	0	0	0	0	1	0	0	0	9540	1291	45	2	2515	2	MEI1	22	42166858	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		42166858	9137708	53	53256											
TBC1D22A	25771	broad.mit.edu	37	chr22	47189507	47189507	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atgcctgggacgctggggagGacgacgatgagctcctggcc	7	6	17	11	3	0	1	0	1	0	0	1	6	1	4	3	5	2	2	3	5	0	0			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chr22:47189507G>A	ENST00000337137.4	+	3	395	c.229G>A	c.(229-231)Gac>Aac	p.D77N	TBC1D22A_ENST00000406733.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000380995.1_Missense_Mutation_p.D30N|TBC1D22A_ENST00000355704.3_Missense_Mutation_p.D58N|TBC1D22A_ENST00000407381.3_Missense_Mutation_p.D77N|TBC1D22A_ENST00000472791.1_3'UTR	NM_001284304.1|NM_001284305.1|NM_014346.2	NP_001271233.1|NP_001271234.1|NP_055161.1	Q8WUA7	TB22A_HUMAN	TBC1 domain family, member 22A	77						intracellular	protein homodimerization activity|Rab GTPase activator activity			breast(1)|endometrium(3)|large_intestine(10)|lung(5)|ovary(2)|prostate(1)	22		all_cancers(38;4.44e-05)|all_epithelial(38;0.000507)|Breast(42;0.0488)|all_lung(38;0.0682)|Ovarian(80;0.0731)|all_neural(38;0.0966)|Glioma(61;0.222)|Lung SC(80;0.236)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0347)|BRCA - Breast invasive adenocarcinoma(115;0.231)		CGCTGGGGAGGACGACGATGA	0.637													A	47189507	G	A	47189507	3	1	677	1	0	0	0	0	1	0	0	0	15708	1174	41	2	239	2	TBC1D22A	22	47189507	Missense_Mutation	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08	5022649	47189507	4115059	54	53257											
PLCXD1	55344	broad.mit.edu	37	chrX	209794	209794	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcgccggcaccacgagctGtggccaggagtcccctactg	6	7	13	15	3	0	0	0	0	0	0	1	2	1	1	5	3	3	2	5	3	1	2			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:209794G>A	ENST00000381657.2	+	6	1156	c.642G>A	c.(640-642)ctG>ctA	p.L214L	PLCXD1_ENST00000399012.1_Silent_p.L214L|PLCXD1_ENST00000381663.3_Silent_p.L214L	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	214					intracellular signal transduction|lipid metabolic process		phospholipase C activity			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				ACCACGAGCTGTGGCCAGGAG	0.637													A	209794	G	A	209794	2	1	677	1	0	0	0	0	0	0	0	1	12118	1364	48	2		2	PLCXD1	23	209794	Silent	SNP	G	TCGA-QH-A6XC-01A-12D-A32B-08		209794	155060766	55	53258											
DCAF8L2	347442	broad.mit.edu	37	chrX	27765735	27765735	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cactttaaccagcgtggcacCcggctggccagtagcggtga	8	7	13	13	3	0	1	0	1	0	0	0	1	0	1	3	4	3	3	3	4	2	3			TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:27765735C>G	ENST00000451261.2	+	5	1122	c.723C>G	c.(721-723)acC>acG	p.T241T		NM_001136533.1	NP_001130005.1			DDB1 and CUL4 associated factor 8-like 2											central_nervous_system(1)|endometrium(9)|kidney(3)|lung(7)|pancreas(1)|skin(3)	24						AGCGTGGCACCCGGCTGGCCA	0.532													G	27765735	C	G	27765735	2	3	677	1	0	0	0	0	0	0	0	1	4312	610	22	4		4	DCAF8L2	23	27765735	Silent	SNP	C	TCGA-QH-A6XC-01A-12D-A32B-08	27555941	27765735	127504825	56	53259											
RBM10	8241	broad.mit.edu	37	chrX	47030561	47030563	+	In_Frame_Del	DEL	GGA	GGA	-																															gactatcggaccgagcaaggGgaggaggaggaggaggagga																										TCGA-QH-A6XC-01A-12D-A32B-08	TCGA-QH-A6XC-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3503eae2-9633-4aed-bef0-09c0e083935b	4f74232d-4ca2-490e-a6bd-8c9ec5b1cec6	g.chrX:47030561_47030563delGGA	ENST00000377604.3	+	4	1078_1080	c.336_338delGGA	c.(334-339)ggggag>ggg	p.E119del	RBM10_ENST00000345781.6_Intron|RBM10_ENST00000329236.7_Intron	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	119	Poly-Glu.				mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						CCGAGCAAGGggaggaggaggag	0.66													-	47030563	GGA	-	47030561	7	5	677	1	0	1	0	1	0	0	0	0	13199	1219	43	0	346	0	RBM10	23	47030561	In_Frame_Del	DEL	GGA	TCGA-QH-A6XC-01A-12D-A32B-08	19264826	47030561	108239999	57	53260											
FUBP1	8880	broad.mit.edu	37	chr1	78444659	78444659	+	Frame_Shift_Del	DEL	G	G	-																															ccaccagctgagccagaagaGgggggaggcactgttgaata																										TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:78444659delG	ENST00000370767.1	-	1	117	c.30delC	c.(28-30)cccfs	p.P10fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.P10fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.P10fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	10					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGCCAGAAGAGGGGGGAGGCA	0.557			"F, N"		oligodendroglioma								-	78444659	G	-	78444659	7	5	678	1	0	1	0	1	0	0	0	0	6144	987	35	0	1984	0	FUBP1	1	78444659	Frame_Shift_Del	DEL	G	TCGA-QH-A86X-01A-11D-A36O-08		78444659	170805962	1	53261											
LCE2B	26239	broad.mit.edu	37	chr1	152659435	152659435	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccccagtgcccagctcCatgttcccctgcagtctctt	4	11	7	19	0	1	0	0	0	1	0	4	0	3	0	7	0	4	3	7	0	0	2			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:152659435C>T	ENST00000368780.3	+	2	170	c.116C>T	c.(115-117)cCa>cTa	p.P39L	LCE2B_ENST00000417924.2_Missense_Mutation_p.P39L	NM_014357.4	NP_055172.1	O14633	LCE2B_HUMAN	late cornified envelope 2B	39	Cys-rich.|Pro-rich.				keratinization					endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	11	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGCCCAGCTCCATGTTCCCCT	0.622													T	152659435	C	T	152659435	3	4	678	1	0	0	0	0	1	0	0	0	8725	594	21	2	118	2	LCE2B	1	152659435	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	74214776	152659435	96591186	2	53262											
LMNA	4000	broad.mit.edu	37	chr1	156105907	156105907	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagctcttggagggcgaggaGgagaggtgggctggggagac	9	5	22	5	1	1	2	0	0	1	2	1	7	1	4	0	8	1	2	0	8	1	1			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:156105907G>A	ENST00000368300.4	+	6	1364	c.1152G>A	c.(1150-1152)gaG>gaA	p.E384E	LMNA_ENST00000473598.2_Silent_p.E285E|LMNA_ENST00000448611.2_Silent_p.E272E|LMNA_ENST00000392353.3_Silent_p.E303E|LMNA_ENST00000368297.1_Silent_p.E303E|LMNA_ENST00000368301.2_Silent_p.E384E|LMNA_ENST00000361308.4_Silent_p.E384E|LMNA_ENST00000368299.3_Silent_p.E384E|LMNA_ENST00000496738.1_3'UTR|LMNA_ENST00000347559.2_Silent_p.E384E	NM_170707.3	NP_733821.1	P02545	LMNA_HUMAN	lamin A/C	384	Tail.				cellular component disassembly involved in apoptosis|cellular response to hypoxia|establishment or maintenance of microtubule cytoskeleton polarity|muscle organ development|positive regulation of cell aging|regulation of apoptosis|regulation of cell migration	cytoplasm|lamin filament|nuclear envelope|perinuclear region of cytoplasm	protein binding|structural molecule activity			NS(1)|endometrium(1)|kidney(1)|lung(3)|ovary(4)	10	Hepatocellular(266;0.158)					AGGGCGAGGAGGAGAGGTGGG	0.642									Werner syndrome;Hutchinson-Gilford Progeria Syndrome				A	156105907	G	A	156105907	2	1	678	1	0	0	0	0	0	0	0	1	8909	991	35	2		2	LMNA	1	156105907	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	3446472	156105907	93144714	3	53263											
PKP1	5317	broad.mit.edu	37	chr1	201291189	201291189	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acccgctaccgccagctggaGtataacgcccgcaacgccta	10	5	9	17	5	0	0	0	0	0	0	0	1	0	1	5	1	4	4	5	1	5	4			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr1:201291189G>A	ENST00000263946.3	+	9	1745	c.1494G>A	c.(1492-1494)gaG>gaA	p.E498E	PKP1_ENST00000367324.3_Silent_p.E477E|PKP1_ENST00000352845.3_Silent_p.E498E	NM_000299.3	NP_000290.2	Q13835	PKP1_HUMAN	plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)	498					cell adhesion|cellular component disassembly involved in apoptosis|multicellular organismal development	desmosome|intermediate filament|nucleus	intermediate filament binding|signal transducer activity|structural constituent of epidermis			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCCAGCTGGAGTATAACGCCC	0.607													A	201291189	G	A	201291189	2	1	678	1	0	0	0	0	0	0	0	1	12061	1020	36	2		2	PKP1	1	201291189	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	45185282	201291189	47959432	4	53264											
APOB	338	broad.mit.edu	37	chr2	21245798	21245798	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcctccagacccgactcGtggaagaagttggtgttcat	9	10	12	10	2	1	3	1	1	0	2	3	5	2	4	3	2	1	2	3	2	2	2	rs72653068		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:21245798G>A	ENST00000233242.1	-	18	2848	c.2721C>T	c.(2719-2721)caC>caT	p.H907H		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	907	Heparin-binding.				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GACCCGACTCGTGGAAGAAGT	0.507													A	21245798	G	A	21245798	2	1	678	1	0	0	0	0	0	0	0	1	788	1136	40	1		1	APOB	2	21245798	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		21245798	221953575	5	53265											
UBR3	130507	broad.mit.edu	37	chr2	170937133	170937133	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatcatcattcgaggtcacCgcttctgcctctggggttcc	5	14	9	13	2	5	0	3	0	2	0	7	1	6	0	3	3	1	2	3	3	1	4			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:170937133C>T	ENST00000272793.5	+	38	5538	c.5488C>T	c.(5488-5490)Cgc>Tgc	p.R1830C	UBR3_ENST00000392631.1_Missense_Mutation_p.R651C|UBR3_ENST00000418381.1_Missense_Mutation_p.R1830C			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1830					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						TCGAGGTCACCGCTTCTGCCT	0.398													T	170937133	C	T	170937133	3	4	678	1	0	0	0	0	1	0	0	0	17005	652	23	1	5638	1	UBR3	2	170937133	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	149691335	170937133	72262240	6	53266											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	678	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	38175979	209113112	34086261	7	53267											
IRAK2	3656	broad.mit.edu	37	chr3	10255186	10255186	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacagcctgttcaagtccaGgatcaatcgaaagattcttc	13	10	8	10	1	3	2	2	0	1	2	6	4	4	3	2	1	1	1	2	1	3	3			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:10255186G>T	ENST00000256458.4	+	6	832	c.742G>T	c.(742-744)Gga>Tga	p.G248*		NM_001570.3	NP_001561.3	O43187	IRAK2_HUMAN	interleukin-1 receptor-associated kinase 2	248	Protein kinase.				activation of MAPK activity|I-kappaB kinase/NF-kappaB cascade|inflammatory response|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|positive regulation of NF-kappaB transcription factor activity|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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	cell surface|cytosol|endosome membrane|plasma membrane	ATP binding|NF-kappaB-inducing kinase activity|protein heterodimerization activity|protein homodimerization activity			breast(4)|large_intestine(8)|lung(11)|prostate(1)|stomach(1)	25						TTCAAGTCCAGGATCAATCGA	0.463													T	10255186	G	T	10255186	4	4	678	1	0	0	0	0	0	1	0	0	7881	1001	35	4	764	4	IRAK2	3	10255186	Nonsense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		10255186	187767244	8	53268											
SI	6476	broad.mit.edu	37	chr3	164781241	164781241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattcttacccattgcattgCtattcattaaaaaaacaccg	14	14	3	10	1	2	0	1	0	1	0	2	0	2	0	2	0	4	2	2	0	7	8			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr3:164781241C>T	ENST00000264382.3	-	8	958	c.896G>A	c.(895-897)aGc>aAc	p.S299N		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	299	Isomaltase.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	CATTGCATTGCTATTCATTAA	0.264										HNSCC(35;0.089)			T	164781241	C	T	164781241	3	4	678	1	0	0	0	0	1	0	0	0	14391	797	28	2	4751	2	SI	3	164781241	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	154526055	164781241	33241189	9	53269											
PRDM8	56978	broad.mit.edu	37	chr4	81122620	81122620	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactagtttggtacgggaaAgaactgactgagttactctt	11	14	10	6	1	1	3	0	2	1	1	1	4	1	4	0	2	4	3	0	2	6	6			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr4:81122620A>T	ENST00000339711.4	+	9	1627	c.396A>T	c.(394-396)aaA>aaT	p.K132N	PRDM8_ENST00000415738.2_Missense_Mutation_p.K132N|PRDM8_ENST00000504452.1_Missense_Mutation_p.K132N	NM_020226.3	NP_064611.3	Q9NQV8	PRDM8_HUMAN	PR domain containing 8	132	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(2)	10						GGTACGGGAAAGAACTGACTG	0.517											OREG0016246	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	81122620	A	T	81122620	3	4	678	1	0	0	0	0	1	0	0	0	12548	69	3	5	402	5	PRDM8	4	81122620	Missense_Mutation	SNP	A	TCGA-QH-A86X-01A-11D-A36O-08		81122620	110031656	10	53270											
DHX29	54505	broad.mit.edu	37	chr5	54577289	54577289	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtacaatagagtaaccTggtagattcacaagctcgag	13	11	10	7	1	1	2	1	0	0	2	2	3	1	2	1	1	3	5	1	1	6	6			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:54577289T>C	ENST00000251636.5	-	12	2168	c.2020A>G	c.(2020-2022)Agg>Ggg	p.R674G	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	674	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				TAGAGTAACCTGGTAGATTCA	0.388													C	54577289	T	C	54577289	3	2	678	1	0	0	0	0	1	0	0	0	4542	1579	55	3	2153	3	DHX29	5	54577289	Missense_Mutation	SNP	T	TCGA-QH-A86X-01A-11D-A36O-08		54577289	126337971	11	53271											
POLK	51426	broad.mit.edu	37	chr5	74892057	74892057	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttaatttaggtgttcggatAtctagttttcccaatgaaga	11	17	8	5	1	1	2	0	1	1	1	3	3	2	3	1	2	0	2	1	2	6	9			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr5:74892057A>G	ENST00000241436.4	+	13	1711	c.1539A>G	c.(1537-1539)atA>atG	p.I513M	POLK_ENST00000352007.5_Missense_Mutation_p.I315M|POLK_ENST00000504026.1_Intron|POLK_ENST00000508526.1_Missense_Mutation_p.I315M|POLK_ENST00000380481.3_Missense_Mutation_p.I423M|POLK_ENST00000506928.1_3'UTR	NM_016218.2	NP_057302.1	Q9UBT6	POLK_HUMAN	polymerase (DNA directed) kappa	513					DNA replication|nucleotide-excision repair, DNA gap filling	nucleus	damaged DNA binding|DNA-directed DNA polymerase activity|metal ion binding			endometrium(1)|kidney(4)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	27		all_lung(232;0.0131)|Lung NSC(167;0.0282)|Ovarian(174;0.0798)|Prostate(461;0.184)		OV - Ovarian serous cystadenocarcinoma(47;2.9e-54)|all cancers(79;1.27e-42)		GTGTTCGGATATCTAGTTTTC	0.378								DNA polymerases (catalytic subunits)					G	74892057	A	G	74892057	3	3	678	1	0	0	0	0	1	0	0	0	12281	439	16	3	1585	3	POLK	5	74892057	Missense_Mutation	SNP	A	TCGA-QH-A86X-01A-11D-A36O-08	20314768	74892057	106023203	12	53272											
XPA	7507	broad.mit.edu	37	chr9	100459557	100459557	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gccgccgcctccggcaaagcCccgtcggccgccgccatctc	4	4	11	22	7	1	0	0	0	1	0	4	0	2	0	9	2	1	1	9	2	1	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr9:100459557C>T	ENST00000375128.4	-	1	82	c.18G>A	c.(16-18)ggG>ggA	p.G6G		NM_000380.3	NP_000371.1	P23025	XPA_HUMAN	xeroderma pigmentosum, complementation group A	6	Interaction with CEP164 and required for UV resistance.				nucleotide-excision repair, DNA damage removal	nucleoplasm	damaged DNA binding|metal ion binding|nucleotide binding|protein domain specific binding|protein homodimerization activity			breast(1)|endometrium(4)|large_intestine(1)|lung(4)|prostate(1)	11		Acute lymphoblastic leukemia(62;0.158)				CCGGCAAAGCCCCGTCGGCCG	0.731			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				T	100459557	C	T	100459557	2	4	678	1	0	0	0	0	0	0	0	1	17542	610	22	2		2	XPA	9	100459557	Silent	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08		100459557	40753874	13	53273											
KRT75	9119	broad.mit.edu	37	chr12	52822482	52822482	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctcttgtttggtgtttcGaaggtcatccccatgtctgc	5	16	10	10	1	3	0	1	0	2	0	6	2	4	0	2	2	1	2	2	2	1	3	rs151328629		TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr12:52822482G>A	ENST00000252245.5	-	6	1301	c.1081C>T	c.(1081-1083)Cga>Tga	p.R361*		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	361	Coil 2.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		TTGGTGTTTCGAAGGTCATCC	0.532													A	52822482	G	A	52822482	4	1	678	1	0	0	0	0	0	1	0	0	8546	1066	37	1	590	1	KRT75	12	52822482	Nonsense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		52822482	81029413	14	53274											
WDR90	197335	broad.mit.edu	37	chr16	705148	705148	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	accttttttgatgaaaccagGtgatgcagccgcccatccac	10	10	8	13	1	0	3	0	3	0	0	1	3	1	3	5	1	3	1	5	1	1	3			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:705148G>A	ENST00000549091.1	+	14	1648		c.e14+1		LA16c-349E10.1_ENST00000573609.1_RNA|WDR90_ENST00000293879.4_Splice_Site	NM_145294.4	NP_660337.3	Q96KV7	WDR90_HUMAN	WD repeat domain 90											endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				ATGAAACCAGGTGATGCAGCC	0.657													A	705148	G	A	705148	5	1	678	1	0	0	0	0	0	0	1	0	17439	1275	44	2	1611	2	WDR90	16	705148	Splice_Site	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		705148	89649605	15	53275											
MPV17L	255027	broad.mit.edu	37	chr16	15501855	15501855	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctggagtctgtggttttctCtgggccaccttcatctgttt	3	17	11	10	0	4	0	1	0	3	0	5	1	4	1	2	3	0	3	2	3	0	4			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:15501855C>G	ENST00000287594.7	+	3	550	c.406C>G	c.(406-408)Ctg>Gtg	p.L136V	MPV17L_ENST00000396385.3_Silent_p.L159L|RP11-1021N1.1_ENST00000568222.1_Intron	NM_173803.3	NP_776164.2	Q2QL34	MP17L_HUMAN	MPV17 mitochondrial membrane protein-like							integral to membrane|peroxisomal membrane				kidney(2)|large_intestine(1)|skin(1)	4						GTGGTTTTCTCTGGGCCACCT	0.502													G	15501855	C	G	15501855	3	3	678	1	0	0	0	0	1	0	0	0	9822	912	32	4	491	4	MPV17L	16	15501855	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	14796707	15501855	74852898	16	53276											
ACSM2B	348158	broad.mit.edu	37	chr16	20556560	20556560	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgtgccggggggcaggacGttgcccttatcatctataac	7	11	12	11	2	3	0	1	0	2	0	3	1	3	1	2	4	3	2	2	4	3	4			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:20556560G>C	ENST00000329697.6	-	10	1368	c.1200C>G	c.(1198-1200)aaC>aaG	p.N400K	ACSM2B_ENST00000565322.1_Missense_Mutation_p.N321K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N400K|ACSM2B_ENST00000567288.1_5'UTR|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N400K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	400					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GGGGCAGGACGTTGCCCTTAT	0.507													C	20556560	G	C	20556560	3	2	678	1	0	0	0	0	1	0	0	0	184	1136	40	4	553	4	ACSM2B	16	20556560	Missense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08	5054705	20556560	69798193	17	53277											
PHLPP2	23035	broad.mit.edu	37	chr16	71689222	71689222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcttctaaaagcacatctgCcatcgtacactgcagcaggc	11	9	7	14	1	3	0	0	0	3	0	4	0	3	0	1	1	5	4	1	1	3	3			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:71689222C>T	ENST00000393524.2	-	15	3038	c.2305G>A	c.(2305-2307)Gca>Aca	p.A769T	PHLPP2_ENST00000540628.1_Missense_Mutation_p.A46T|PHLPP2_ENST00000568954.1_Missense_Mutation_p.A836T|PHLPP2_ENST00000356272.3_Missense_Mutation_p.A836T|PHLPP2_ENST00000567016.1_Missense_Mutation_p.A871T|PHLPP2_ENST00000360429.3_Missense_Mutation_p.A836T|RP11-432I5.6_ENST00000567077.1_RNA			Q6ZVD8	PHLP2_HUMAN	PH domain and leucine rich repeat protein phosphatase 2	836						cytoplasm|membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity			central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(7)|lung(15)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37						AGCACATCTGCCATCGTACAC	0.488													T	71689222	C	T	71689222	3	4	678	1	0	0	0	0	1	0	0	0	11932	739	26	2	1477	2	PHLPP2	16	71689222	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	51132662	71689222	18665531	18	53278											
ZFHX3	463	broad.mit.edu	37	chr16	72831385	72831385	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgttgttgttgttgttgTtgctgttgctgctgctgttg	0	23	14	4	0	0	0	0	0	0	0	0	0	0	0	0	0	4	13	0	0	0	9	rs76691369	byFrequency	TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr16:72831385T>C	ENST00000268489.5	-	9	5868	c.5196A>G	c.(5194-5196)caA>caG	p.Q1732Q	ZFHX3_ENST00000397992.5_Silent_p.Q818Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1732	Poly-Gln.				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				gttgttgttgttgctgttgct	0.537													C	72831385	T	C	72831385	2	2	678	1	0	0	0	0	0	0	0	1	17735	1722	60	3		3	ZFHX3	16	72831385	Silent	SNP	T	TCGA-QH-A86X-01A-11D-A36O-08	1142163	72831385	17523368	19	53279											
ACTG1	71	broad.mit.edu	37	chr17	79478121	79478121	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggtggtctcgtggatgccGcaagattccatacctagggg	9	9	14	9	2	1	1	0	0	1	1	3	2	2	2	3	5	2	1	3	5	4	3			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr17:79478121G>A	ENST00000575842.1	-	4	1242	c.816C>T	c.(814-816)tgC>tgT	p.C272C	ACTG1_ENST00000331925.2_Silent_p.C272C|AC139149.1_ENST00000584254.1_RNA|ACTG1_ENST00000575087.1_Silent_p.C272C|ACTG1_ENST00000573283.1_Silent_p.C272C			P63261	ACTG_HUMAN	actin, gamma 1	272					adherens junction organization|axon guidance|blood coagulation|cell junction assembly|cellular component movement	cytoskeleton|cytosol	ATP binding|identical protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|lung(8)|ovary(2)|prostate(5)|urinary_tract(1)	29	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0547)			CGTGGATGCCGCAAGATTCCA	0.542													A	79478121	G	A	79478121	2	1	678	1	0	0	0	0	0	0	0	1	196	1079	38	1		1	ACTG1	17	79478121	Silent	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		79478121	1717089	20	53280											
ZNF407	55628	broad.mit.edu	37	chr18	72343568	72343568	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggcatttgttttcttcttGctctgacttggaaaaacatg	8	17	9	7	0	3	1	0	1	3	0	3	2	3	2	0	2	2	3	0	2	2	6			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr18:72343568G>T	ENST00000299687.5	+	1	593	c.593G>T	c.(592-594)tGc>tTc	p.C198F	ZNF407_ENST00000582337.1_Missense_Mutation_p.C198F|ZNF407_ENST00000309902.6_Missense_Mutation_p.C198F|ZNF407_ENST00000577538.1_Missense_Mutation_p.C198F	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	198					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		TTTTCTTCTTGCTCTGACTTG	0.448													T	72343568	G	T	72343568	3	4	678	1	0	0	0	0	1	0	0	0	17988	1319	46	4	595	4	ZNF407	18	72343568	Missense_Mutation	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		72343568	5733680	21	53281											
CIC	23152	broad.mit.edu	37	chr19	42791393	42791393	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgaccatgatgatgcGtgagttccctgaggcctggg	8	9	16	8	1	0	6	0	5	0	1	1	7	1	6	3	2	1	1	3	2	0	1			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:42791393G>A	ENST00000572681.2	+	4	3247		c.e4+1		CIC_ENST00000575354.2_Splice_Site|CIC_ENST00000160740.3_Splice_Site			Q96RK0	CIC_HUMAN	capicua transcriptional repressor						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATGATGATGCGTGAGTTCCCT	0.647			"Mis, F, S"		oligodendroglioma								A	42791393	G	A	42791393	5	1	678	1	0	0	0	0	0	0	1	0	3454	1159	40	1	463	1	CIC	19	42791393	Splice_Site	SNP	G	TCGA-QH-A86X-01A-11D-A36O-08		42791393	16337590	22	53282											
PRMT1	3276	broad.mit.edu	37	chr19	50185264	50185264	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggtgctggacgtcggctCgggcaccggcatcctctgca	4	8	16	13	4	1	0	0	0	1	0	4	1	2	1	2	6	2	5	2	6	0	0			TCGA-QH-A86X-01A-11D-A36O-08	TCGA-QH-A86X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d987213e-8137-4aff-9332-890b683cea2f	54b51d95-2a98-444a-9c72-6196b1788ec4	g.chr19:50185264C>T	ENST00000532489.1	+	4	658	c.152C>T	c.(151-153)tCg>tTg	p.S51L	PRMT1_ENST00000454376.2_Missense_Mutation_p.S97L|PRMT1_ENST00000391851.4_Missense_Mutation_p.S79L			Q8WUW5	Q8WUW5_HUMAN	protein arginine methyltransferase 1	78						cytoplasm	protein methyltransferase activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(2)	12		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00103)|GBM - Glioblastoma multiforme(134;0.012)		GACGTCGGCTCGGGCACCGGC	0.637													T	50185264	C	T	50185264	3	4	678	1	0	0	0	0	1	0	0	0	12621	893	31	1	304	1	PRMT1	19	50185264	Missense_Mutation	SNP	C	TCGA-QH-A86X-01A-11D-A36O-08	7393871	50185264	8943719	23	53283											
RCC2	55920	broad.mit.edu	37	chr1	17735688	17735688	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagtgtgagtagcccatggcGacctggggggacaaatcagc	10	6	16	9	1	1	1	1	1	0	0	1	4	1	2	2	4	2	1	2	4	2	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:17735688G>A	ENST00000375436.4	-	13	1654	c.1467C>T	c.(1465-1467)gtC>gtT	p.V489V	RCC2_ENST00000375433.3_Silent_p.V489V	NM_018715.3	NP_061185.1	Q9P258	RCC2_HUMAN	regulator of chromosome condensation 2	489					cell division|mitotic prometaphase	chromosome, centromeric region|cytosol|microtubule|nucleolus|spindle				breast(2)|endometrium(1)|kidney(3)|large_intestine(7)|lung(4)	17		Colorectal(325;0.000147)|Breast(348;0.00122)|Renal(390;0.00145)|all_lung(284;0.0054)|Lung NSC(340;0.00566)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00492)|BRCA - Breast invasive adenocarcinoma(304;7.69e-06)|COAD - Colon adenocarcinoma(227;1.19e-05)|Kidney(64;0.000189)|KIRC - Kidney renal clear cell carcinoma(64;0.00273)|STAD - Stomach adenocarcinoma(196;0.0135)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.19)		AGCCCATGGCGACCTGGGGGG	0.522													A	17735688	G	A	17735688	2	1	679	1	0	0	0	0	0	0	0	1	13262	1045	37	1		1	RCC2	1	17735688	Silent	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		17735688	231514933	1	53284											
SYCP1	6847	broad.mit.edu	37	chr1	115488993	115488993	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaacagtcatcactgagAgcatctttggtgagatacag	14	9	10	8	0	3	3	2	2	1	3	3	5	3	3	0	1	3	1	0	1	3	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr1:115488993A>G	ENST00000369522.3	+	26	2478	c.2238A>G	c.(2236-2238)agA>agG	p.R746R	SYCP1_ENST00000369518.1_Silent_p.R746R	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	746					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		CATCACTGAGAGCATCTTTGG	0.323													G	115488993	A	G	115488993	2	3	679	1	0	0	0	0	0	0	0	1	15528	301	11	3		3	SYCP1	1	115488993	Silent	SNP	A	TCGA-QH-A870-01A-11D-A36O-08	97753305	115488993	133761628	2	53285											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	679	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		209113112	34086261	3	53286											
VIL1	7429	broad.mit.edu	37	chr2	219297657	219297657	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttatgtccatcttcaagggaCgcatggtggtctaccaggtg	8	12	12	9	1	3	0	1	0	2	0	4	1	4	1	2	4	1	1	2	4	3	3			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:219297657C>A	ENST00000248444.5	+	13	1571	c.1483C>A	c.(1483-1485)Cgc>Agc	p.R495S	VIL1_ENST00000392114.2_Missense_Mutation_p.R184S	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	495	Core.				actin filament capping|actin filament depolymerization|actin filament polymerization|actin filament severing|apoptosis|cellular response to epidermal growth factor stimulus|cytoplasmic actin-based contraction involved in cell motility|epidermal growth factor receptor signaling pathway|positive regulation of actin filament bundle assembly|positive regulation of epithelial cell migration|regulation of actin nucleation|regulation of cell shape|regulation of lamellipodium morphogenesis|regulation of wound healing|response to bacterium	actin filament bundle|cytoplasm|filopodium tip|intracellular membrane-bounded organelle|lamellipodium|microvillus|ruffle	actin filament binding|calcium ion binding|caspase inhibitor activity|lysophosphatidic acid binding|phosphatidylinositol-4,5-bisphosphate binding|protein homodimerization activity	p.R495C(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTTCAAGGGACGCATGGTGGT	0.562													A	219297657	C	A	219297657	3	1	679	1	0	0	0	0	1	0	0	0	17266	536	19	4	1529	4	VIL1	2	219297657	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	10184545	219297657	23901716	4	53287											
TRPM8	79054	broad.mit.edu	37	chr2	234847747	234847747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttctgtgaccgggggcGccaagaacttcgccctgaag	8	9	12	12	3	2	3	1	2	1	1	3	3	2	3	3	2	1	0	3	2	3	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr2:234847747G>A	ENST00000324695.4	+	5	494	c.454G>A	c.(454-456)Gcc>Acc	p.A152T	TRPM8_ENST00000409625.1_Missense_Mutation_p.A75T|TRPM8_ENST00000355722.4_Missense_Mutation_p.A102T|TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	152						integral to membrane		p.A152T(2)		breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	GACCGGGGGCGCCAAGAACTT	0.607													A	234847747	G	A	234847747	3	1	679	1	0	0	0	0	1	0	0	0	16693	1087	38	1	468	1	TRPM8	2	234847747	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	15550090	234847747	8351626	5	53288											
GPR125	166647	broad.mit.edu	37	chr4	22438138	22438138	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcatcatctgcccaaaaGccacctctatcacatctgcg	12	10	4	15	1	6	0	3	0	3	0	6	0	6	0	3	0	3	0	3	0	4	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:22438138G>A	ENST00000334304.5	-	9	1481	c.1212C>T	c.(1210-1212)ggC>ggT	p.G404G	GPR125_ENST00000502482.1_Silent_p.G404G|GPR125_ENST00000282943.5_5'UTR|GPR125_ENST00000508133.1_Silent_p.G178G	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	404					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				CTGCCCAAAAGCCACCTCTAT	0.438													A	22438138	G	A	22438138	2	1	679	1	0	0	0	0	0	0	0	1	6693	958	34	2		2	GPR125	4	22438138	Silent	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		22438138	168716138	6	53289											
ATP10D	57205	broad.mit.edu	37	chr4	47517508	47517509	+	Frame_Shift_Del	DEL	TT	TT	-																															tgcagagctgccaatttataTttcctgttcctagttgtcct																										TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:47517508_47517509delTT	ENST00000273859.3	+	3	575_576	c.306_307delTT	c.(304-309)tatttcfs	p.F103fs	ATP10D_ENST00000504445.1_Frame_Shift_Del_p.F103fs	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	103					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CCAATTTATATTTCCTGTTCCT	0.421													-	47517509	TT	-	47517508	7	5	679	1	0	1	0	1	0	0	0	0	1123	1500	52	0	312	0	ATP10D	4	47517508	Frame_Shift_Del	DEL	TT	TCGA-QH-A870-01A-11D-A36O-08	25079370	47517508	143636768	7	53290											
UTP3	57050	broad.mit.edu	37	chr4	71555330	71555330	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatttgatcaacaagctgtcCgttgtggatcagaagctgtc	11	12	10	8	1	2	2	2	1	0	1	4	3	3	3	1	1	3	3	1	1	4	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr4:71555330C>A	ENST00000254803.2	+	1	1135	c.936C>A	c.(934-936)tcC>tcA	p.S312S		NM_020368.2	NP_065101.1	Q9NQZ2	SAS10_HUMAN	UTP3, small subunit (SSU) processome component, homolog (S. cerevisiae)	312					brain development|chromatin modification|gene silencing	nucleolus				endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(4)	18			Lung(101;0.235)			ACAAGCTGTCCGTTGTGGATC	0.418													A	71555330	C	A	71555330	2	1	679	1	0	0	0	0	0	0	0	1	17203	639	23	4		4	UTP3	4	71555330	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	24037822	71555330	119598946	8	53291											
PCDHB4	56131	broad.mit.edu	37	chr5	140503914	140503914	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcttggttcaggacacCgggagggaagttaaggaaaa	14	8	13	6	1	2	0	1	0	1	0	3	4	2	4	1	5	0	2	1	5	5	3			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:140503914C>G	ENST00000194152.1	+	1	2334	c.2334C>G	c.(2332-2334)acC>acG	p.T778T		NM_018938.2	NP_061761.1	Q9Y5E5	PCDB4_HUMAN		778					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	cytoplasm|integral to plasma membrane|intermediate filament cytoskeleton	calcium ion binding			autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	67			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TTCAGGACACCGGGAGGGAAG	0.448													G	140503914	C	G	140503914	2	3	679	1	0	0	0	0	0	0	0	1	11620	639	23	4		4	PCDHB4	5	140503914	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		140503914	40411346	9	53292											
DOCK2	1794	broad.mit.edu	37	chr5	169116337	169116337	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatctgaaggtggtcttcacGgtgagtgtgcaccctcttct	7	13	11	10	1	5	2	1	2	4	0	5	2	5	2	1	3	1	1	1	3	2	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr5:169116337G>A	ENST00000256935.8	+	9	923	c.843G>A	c.(841-843)acG>acA	p.T281T		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	281					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGGTCTTCACGGTGAGTGTGC	0.547													A	169116337	G	A	169116337	5	1	679	1	0	0	0	0	0	0	1	0	4726	1130	39	1	877	1	DOCK2	5	169116337	Splice_Site	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	28612423	169116337	11798923	10	53293											
NEDD9	4739	broad.mit.edu	37	chr6	11213626	11213626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagtggggacttggtaaattCcctgattttggtaggaaggt	9	13	14	5	0	0	1	0	1	0	0	1	3	1	3	1	6	0	2	1	6	4	6			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:11213626C>T	ENST00000379446.5	-	2	513	c.347G>A	c.(346-348)gGa>gAa	p.G116E	RP3-510L9.1_ENST00000500636.2_RNA|NEDD9_ENST00000504387.1_Missense_Mutation_p.G116E|NEDD9_ENST00000379433.5_Missense_Mutation_p.G116E	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	116	Interacts strongly with spindle- regulatory protein D1M1.				actin filament bundle assembly|cell adhesion|cell division|integrin-mediated signaling pathway|mitosis|regulation of growth	cell cortex|focal adhesion|Golgi apparatus|lamellipodium|nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			TTGGTAAATTCCCTGATTTTG	0.552													T	11213626	C	T	11213626	3	4	679	1	0	0	0	0	1	0	0	0	10389	855	30	2	2251	2	NEDD9	6	11213626	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		11213626	159901441	11	53294											
PHF3	23469	broad.mit.edu	37	chr6	64395000	64395000	+	Frame_Shift_Del	DEL	A	A	-																															gctatagaaagtactaaaatAgagtcccatgaaacagcaaa																										TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr6:64395000delA	ENST00000262043.3	+	4	1717	c.1377delA	c.(1375-1377)atafs	p.I459fs	PHF3_ENST00000509330.1_Frame_Shift_Del_p.I459fs|PHF3_ENST00000393387.1_Frame_Shift_Del_p.I459fs			Q92576	PHF3_HUMAN	PHD finger protein 3	459					multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			GTACTAAAATAGAGTCCCATG	0.358													-	64395000	A	-	64395000	7	5	679	1	0	1	0	1	0	0	0	0	11913	410	15	0	1387	0	PHF3	6	64395000	Frame_Shift_Del	DEL	A	TCGA-QH-A870-01A-11D-A36O-08	53181374	64395000	106720067	12	53295											
NSUN5	55695	broad.mit.edu	37	chr7	72718793	72718793	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtcttattgcctggggCggcacaggcatcgatgacat	8	10	13	10	2	1	1	0	1	1	0	2	2	1	1	1	5	1	2	1	5	1	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:72718793C>T	ENST00000428206.1	-	6	605	c.592G>A	c.(592-594)Gcc>Acc	p.A198T	NSUN5_ENST00000310326.8_Missense_Mutation_p.A236T|NSUN5_ENST00000252594.6_Missense_Mutation_p.A236T|NSUN5_ENST00000438747.2_Missense_Mutation_p.A236T	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	236							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				TTGCCTGGGGCGGCACAGGCA	0.597													T	72718793	C	T	72718793	3	4	679	1	0	0	0	0	1	0	0	0	10757	768	27	1	735	1	NSUN5	7	72718793	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		72718793	86419870	13	53296											
MUC17	140453	broad.mit.edu	37	chr7	100684511	100684511	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaaggtaccagcatgCcaacctcaactcctagtgaa	12	8	8	13	0	1	2	1	2	0	0	2	2	2	2	4	1	6	3	4	1	6	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr7:100684511C>T	ENST00000306151.4	+	3	9878	c.9814C>T	c.(9814-9816)Cca>Tca	p.P3272S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3272	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)					TACCAGCATGCCAACCTCAAC	0.502													T	100684511	C	T	100684511	3	4	679	1	0	0	0	0	1	0	0	0	10050	739	26	2	9824	2	MUC17	7	100684511	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	27965718	100684511	58454152	14	53297											
ZNF703	80139	broad.mit.edu	37	chr8	37556023	37556023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgggtcgctgtccttgcGgaatccacacactttgggcc	5	9	11	16	3	0	0	0	0	0	0	3	1	2	1	5	3	1	1	5	3	1	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr8:37556023G>A	ENST00000331569.4	+	2	1833	c.1604G>A	c.(1603-1605)cGg>cAg	p.R535Q		NM_025069.1	NP_079345.1	Q9H7S9	ZN703_HUMAN	zinc finger protein 703	535					adherens junction assembly|mammary gland epithelial cell differentiation|negative regulation of homotypic cell-cell adhesion|negative regulation of transcription, DNA-dependent|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of mammary gland epithelial cell proliferation|regulation of canonical Wnt receptor signaling pathway|regulation of cell cycle|regulation of transforming growth factor beta receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein binding|zinc ion binding		FGFR1/ZNF703(2)	breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(1)|pancreas(1)	7			BRCA - Breast invasive adenocarcinoma(5;7.93e-25)|LUSC - Lung squamous cell carcinoma(8;1.05e-09)			CTGTCCTTGCGGAATCCACAC	0.751													A	37556023	G	A	37556023	3	1	679	1	0	0	0	0	1	0	0	0	18207	1116	39	1	1610	1	ZNF703	8	37556023	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		37556023	108807999	15	53298											
SUFU	51684	broad.mit.edu	37	chr10	104356987	104356987	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgacctgagccggccccccGaggatgacgaggacagccgg	9	3	15	14	4	0	3	0	3	0	0	0	7	0	5	6	4	2	0	6	4	0	0			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr10:104356987G>A	ENST00000369902.3	+	7	1013	c.847G>A	c.(847-849)Gag>Aag	p.E283K	SUFU_ENST00000423559.2_Missense_Mutation_p.E283K|SUFU_ENST00000369899.2_Missense_Mutation_p.E283K|SUFU_ENST00000471000.1_3'UTR	NM_016169.3	NP_057253.2	Q9UMX1	SUFU_HUMAN	suppressor of fused homolog (Drosophila)	283					negative regulation of transcription from RNA polymerase II promoter|proteolysis|skeletal system development	cytoplasm|nucleus	identical protein binding|protein binding|signal transducer activity|transcription corepressor activity|transcription factor binding	p.E283K(1)		breast(2)|central_nervous_system(7)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(2)	24		Colorectal(252;0.207)		Epithelial(162;1.36e-08)|all cancers(201;3.81e-07)|BRCA - Breast invasive adenocarcinoma(275;0.242)		CCGGCCCCCCGAGGATGACGA	0.602			"D, F, S"		medulloblastoma	medulloblastoma			Medulloblastoma, associated with Germline SUFU Mutation		OREG0020482	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	104356987	G	A	104356987	3	1	679	1	0	0	0	0	1	0	0	0	15464	1059	37	1	873	1	SUFU	10	104356987	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		104356987	31177760	16	53299											
OLR1	4973	broad.mit.edu	37	chr12	10312559	10312559	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgcataaacagctcctcGttgtatatatgcacaggtac	11	12	7	11	2	0	0	0	0	0	0	3	0	2	0	2	1	4	6	2	1	6	7			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr12:10312559G>A	ENST00000309539.3	-	6	802	c.742C>T	c.(742-744)Cga>Tga	p.R248*	OLR1_ENST00000432556.2_3'UTR|OLR1_ENST00000545927.1_3'UTR|OLR1_ENST00000544577.1_Intron|OLR1_ENST00000543993.1_3'UTR	NM_002543.3	NP_002534.1	P78380	OLR1_HUMAN	oxidized low density lipoprotein (lectin-like) receptor 1	248	C-type lectin.				blood circulation|blood coagulation|inflammatory response|leukocyte migration|proteolysis	extracellular region|integral to plasma membrane|membrane fraction	sugar binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	10						ACAGCTCCTCGTTGTATATAT	0.428													A	10312559	G	A	10312559	4	1	679	1	0	0	0	0	0	1	0	0	10939	1153	40	1	83	1	OLR1	12	10312559	Nonsense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		10312559	123539336	17	53300											
RBM25	58517	broad.mit.edu	37	chr14	73572994	73572994	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aagaaagaagaagagaaatgGtaagattctaggctaaaata	22	7	10	2	0	1	5	0	0	1	5	1	6	1	5	0	2	0	2	0	2	10	5			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr14:73572994G>A	ENST00000261973.7	+	12	1752		c.e12+1		RBM25_ENST00000527432.1_Splice_Site|RBM25_ENST00000532483.1_Splice_Site	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25						apoptosis|mRNA processing|regulation of alternative nuclear mRNA splicing, via spliceosome|RNA splicing	cytoplasm|nuclear speck	mRNA binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		AAGAGAAATGGTAAGATTCTA	0.328													A	73572994	G	A	73572994	5	1	679	1	0	0	0	0	0	0	1	0	13213	1275	44	2	1510	2	RBM25	14	73572994	Splice_Site	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		73572994	33776546	18	53301											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000269305.4_Missense_Mutation_p.R273H|TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	679	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-QH-A870-01A-11D-A36O-08		7577120	73618090	19	53302											
TP53	7157	broad.mit.edu	37	chr17	7577600	7577600	+	Frame_Shift_Del	DEL	A	A	-																															tagtggatggtggtacagtcAgagccaacctaggagataac																										TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:7577600delA	ENST00000420246.2	-	7	813	c.681delT	c.(679-681)tctfs	p.S227fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.S227fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.S227fs|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Frame_Shift_Del_p.S227fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	227	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		S -> C (in sporadic cancers; somatic mutation).|S -> F (in sporadic cancers; somatic mutation).|S -> P (in a sporadic cancer; somatic mutation).|S -> T (in LFS; germline mutation and 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.0?(8)|p.?(5)|p.S227S(3)|p.?fs(2)|p.V225_S227delVGS(2)|p.S227fs*1(1)|p.G226_D228delGSD(1)|p.D228fs*1(1)|p.V225fs*23(1)|p.S227_I232delSDCTTI(1)|p.D228fs*19(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)		TGGTACAGTCAGAGCCAACCT	0.522		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)			-	7577600	A	-	7577600	7	5	679	1	0	1	0	1	0	0	0	0	16482	175	7	0	609	0	TP53	17	7577600	Frame_Shift_Del	DEL	A	TCGA-QH-A870-01A-11D-A36O-08	480	7577600	73617610	20	53303											
B4GALNT2	124872	broad.mit.edu	37	chr17	47241556	47241556	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtattacccagacttgacCgtaatagtggctgatgacag	12	10	11	8	1	0	4	0	3	0	1	0	5	0	4	2	1	1	3	2	1	4	5			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr17:47241556C>T	ENST00000300404.2	+	8	1112	c.1053C>T	c.(1051-1053)acC>acT	p.T351T	B4GALNT2_ENST00000504681.1_Silent_p.T265T|B4GALNT2_ENST00000393354.2_Silent_p.T291T	NM_153446.2	NP_703147.2	Q8NHY0	B4GN2_HUMAN	beta-1,4-N-acetyl-galactosaminyl transferase 2	351					lipid glycosylation|negative regulation of cell-cell adhesion|UDP-N-acetylgalactosamine metabolic process	integral to Golgi membrane	acetylgalactosaminyltransferase activity	p.T351T(1)		endometrium(3)|large_intestine(6)|liver(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	24			all cancers(6;0.000316)			CAGACTTGACCGTAATAGTGG	0.483													T	47241556	C	T	47241556	2	4	679	1	0	0	0	0	0	0	0	1	1272	639	23	1		1	B4GALNT2	17	47241556	Silent	SNP	C	TCGA-QH-A870-01A-11D-A36O-08	39663956	47241556	33953654	21	53304											
TSHZ3	57616	broad.mit.edu	37	chr19	31767582	31767582	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaagtttgcactgataggaAgtccccaggtcttcctcggg	9	10	11	11	1	1	1	0	1	1	0	4	2	3	2	3	3	1	2	3	3	3	3			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:31767582A>G	ENST00000240587.4	-	2	3444	c.3117T>C	c.(3115-3117)acT>acC	p.T1039T		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	1039					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					ACTGATAGGAAGTCCCCAGGT	0.488													G	31767582	A	G	31767582	2	3	679	1	0	0	0	0	0	0	0	1	16726	59	3	3		3	TSHZ3	19	31767582	Silent	SNP	A	TCGA-QH-A870-01A-11D-A36O-08		31767582	27361401	22	53305											
PRR12	57479	broad.mit.edu	37	chr19	50099289	50099289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcccatctcacatcattcGtccgctccagtcaccgcctg	7	9	6	19	3	3	0	3	0	1	0	7	0	5	0	5	0	1	1	5	0	0	1			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr19:50099289G>A	ENST00000418929.2	+	4	1709	c.1697G>A	c.(1696-1698)cGt>cAt	p.R566H		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	330	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		CACATCATTCGTCCGCTCCAG	0.672													A	50099289	G	A	50099289	3	1	679	1	0	0	0	0	1	0	0	0	12670	1145	40	1	1711	1	PRR12	19	50099289	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	18331707	50099289	9029694	23	53306											
CHODL	140578	broad.mit.edu	37	chr21	19629023	19629023	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acctgacaaaacccgggacaGggatttctgatggtgatttc	11	10	11	9	1	1	3	0	3	1	0	2	5	1	5	2	3	1	0	2	3	2	2			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:19629023G>T	ENST00000299295.2	+	2	668	c.277G>T	c.(277-279)Ggg>Tgg	p.G93W	CHODL_ENST00000400131.1_Missense_Mutation_p.G52W|CHODL_ENST00000400135.1_Missense_Mutation_p.G52W|CHODL_ENST00000400127.1_Missense_Mutation_p.G52W|CHODL_ENST00000400128.1_Missense_Mutation_p.G52W|CHODL_ENST00000543733.1_Missense_Mutation_p.G74W|CHODL_ENST00000338326.3_Missense_Mutation_p.G52W	NM_001204175.1|NM_024944.2	NP_001191104.1|NP_079220.2	Q9H9P2	CHODL_HUMAN	chondrolectin	93	C-type lectin.				muscle organ development	integral to membrane|perinuclear region of cytoplasm	sugar binding			kidney(1)|large_intestine(3)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	12		all_epithelial(11;0.21)		Epithelial(23;0.000191)|all cancers(11;0.000827)|LUSC - Lung squamous cell carcinoma(23;0.00646)|Lung(58;0.0129)|OV - Ovarian serous cystadenocarcinoma(11;0.017)|COAD - Colon adenocarcinoma(22;0.03)|Colorectal(24;0.0917)		ACCCGGGACAGGGATTTCTGA	0.498													T	19629023	G	T	19629023	3	4	679	1	0	0	0	0	1	0	0	0	3394	1000	35	4	283	4	CHODL	21	19629023	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		19629023	28500872	24	53307											
ITSN1	6453	broad.mit.edu	37	chr21	35237613	35237613	+	Frame_Shift_Del	DEL	C	C	-																															ccagcagaagacggatgaggCcccagacttcaaggagttcg																										TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chr21:35237613delC	ENST00000381318.3	+	32	4337	c.4049delC	c.(4048-4050)gccfs	p.A1350fs	AP000304.12_ENST00000429238.1_Intron|ITSN1_ENST00000399326.3_3'UTR|ITSN1_ENST00000399367.3_Frame_Shift_Del_p.A1345fs|ITSN1_ENST00000381285.4_Frame_Shift_Del_p.A1350fs|ITSN1_ENST00000437442.2_Frame_Shift_Del_p.A1345fs	NM_003024.2	NP_003015.2	Q15811	ITSN1_HUMAN	intersectin 1 (SH3 domain protein)	1350	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic vesicle endocytosis	cell junction|coated pit|cytosol|lamellipodium|synapse|synaptosome	calcium ion binding|proline-rich region binding|protein complex scaffold|Rho guanyl-nucleotide exchange factor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(26)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	67						ACGGATGAGGCCCCAGACTTC	0.607													-	35237613	C	-	35237613	7	5	679	1	0	1	0	1	0	0	0	0	7984	739	26	0	4177	0	ITSN1	21	35237613	Frame_Shift_Del	DEL	C	TCGA-QH-A870-01A-11D-A36O-08	15608590	35237613	12892282	25	53308											
ATRX	546	broad.mit.edu	37	chrX	76939354	76939354	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cactatctacctgttttcttGaaagtttagcttctgacttt	8	19	5	9	0	3	2	0	2	3	0	3	2	3	2	1	0	2	3	1	0	4	9			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:76939354G>C	ENST00000373344.5	-	9	1608	c.1394C>G	c.(1393-1395)tCa>tGa	p.S465*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S427*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	465					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)	CTGTTTTCTTGAAAGTTTAGC	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76939354	G	C	76939354	4	2	679	1	0	0	0	0	0	1	0	0	1213	1294	45	4	6192	4	ATRX	23	76939354	Nonsense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08		76939354	78331206	26	53309											
CHM	1121	broad.mit.edu	37	chrX	85218743	85218743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtaattctgtttttctttGgttgctctgtggtatcttct	5	22	8	6	0	5	0	0	0	5	0	5	0	5	0	0	2	1	5	0	2	3	8			TCGA-QH-A870-01A-11D-A36O-08	TCGA-QH-A870-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	21c70b19-0954-49d7-bc5b-f8acc395a327	e3089585-00a8-498f-9edc-e7ebf283be39	g.chrX:85218743G>A	ENST00000357749.2	-	5	658	c.629C>T	c.(628-630)cCa>cTa	p.P210L	CHM_ENST00000537751.1_Missense_Mutation_p.P62L|CHM_ENST00000467744.2_Intron	NM_000390.2	NP_000381.1	P24386	RAE1_HUMAN	choroideremia (Rab escort protein 1)	210					intracellular protein transport|protein geranylgeranylation|response to stimulus|visual perception	Rab-protein geranylgeranyltransferase complex	GTPase activator activity|Rab geranylgeranyltransferase activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|prostate(1)	20		all_lung(315;5.41e-06)				GTTTTTCTTTGGTTGCTCTGT	0.333													A	85218743	G	A	85218743	3	1	679	1	0	0	0	0	1	0	0	0	3380	1348	47	2	1376	2	CHM	23	85218743	Missense_Mutation	SNP	G	TCGA-QH-A870-01A-11D-A36O-08	8279389	85218743	70051817	27	53310											
SPTA1	6708	broad.mit.edu	37	chr1	158596678	158596678	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgaattcctgaaaggcAtaatcgtcttccaattgcaa	13	12	7	9	1	1	2	0	2	1	0	4	2	3	2	2	1	1	3	2	1	5	5			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr1:158596678A>G	ENST00000368147.4	-	41	5964	c.5784T>C	c.(5782-5784)taT>taC	p.Y1928Y		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					CCTGAAAGGCATAATCGTCTT	0.438													G	158596678	A	G	158596678	2	3	680	1	0	0	0	0	0	0	0	1	15212	224	8	3		3	SPTA1	1	158596678	Silent	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08		158596678	90653943	1	53311											
TBR1	10716	broad.mit.edu	37	chr2	162275516	162275516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcgtgcagacgttcactttCcctgagactcagttcatcgc	7	11	9	14	4	3	2	3	1	0	2	5	3	4	2	1	0	1	3	1	0	0	3			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr2:162275516C>T	ENST00000389554.3	+	4	1400	c.1083C>T	c.(1081-1083)ttC>ttT	p.F361F	TBR1_ENST00000410035.1_Silent_p.F74F	NM_006593.2	NP_006584.1	Q16650	TBR1_HUMAN	T-box, brain, 1	361						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|prostate(1)|skin(3)	30						CGTTCACTTTCCCTGAGACTC	0.632													T	162275516	C	T	162275516	2	4	680	1	0	0	0	0	0	0	0	1	15747	854	30	2		2	TBR1	2	162275516	Silent	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		162275516	80923857	2	53312											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	680	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	46837596	209113112	34086261	3	53313											
FBLN2	2199	broad.mit.edu	37	chr3	13670699	13670699	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacaggtgtgcaccgctgcGgtgagggccaagtgtgccac	8	6	16	11	2	0	2	0	1	0	1	0	2	0	2	3	3	3	2	3	3	1	0	rs111284875		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:13670699G>A	ENST00000404922.3	+	13	2868	c.2749G>A	c.(2749-2751)Ggt>Agt	p.G917S	FBLN2_ENST00000492059.1_Missense_Mutation_p.G917S|FBLN2_ENST00000535798.1_Missense_Mutation_p.G896S|FBLN2_ENST00000295760.7_Missense_Mutation_p.G870S	NM_001004019.1	NP_001004019.1	P98095	FBLN2_HUMAN	fibulin 2	913	EGF-like 7; calcium-binding.					proteinaceous extracellular matrix	calcium ion binding|extracellular matrix structural constituent			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			GCACCGCTGCGGTGAGGGCCA	0.642													A	13670699	G	A	13670699	3	1	680	1	0	0	0	0	1	0	0	0	5748	1116	39	1	1485	1	FBLN2	3	13670699	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		13670699	184351731	4	53314											
ZNF860	344787	broad.mit.edu	37	chr3	32031030	32031030	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaacaagcctatcaaagaTcagcttggattaagctttca	15	10	8	8	0	3	1	3	0	0	1	3	3	3	3	1	2	4	2	1	2	5	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:32031030T>C	ENST00000360311.4	+	2	1008	c.459T>C	c.(457-459)gaT>gaC	p.D153D		NM_001137674.2	NP_001131146.2	A6NHJ4	ZN860_HUMAN	zinc finger protein 860	153					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|lung(4)|ovary(1)	8						CTATCAAAGATCAGCTTGGAT	0.398													C	32031030	T	C	32031030	2	2	680	1	0	0	0	0	0	0	0	1	18293	1432	50	3		3	ZNF860	3	32031030	Silent	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08	18360331	32031030	165991400	5	53315											
TMEM41A	90407	broad.mit.edu	37	chr3	185212517	185212518	+	Frame_Shift_Ins	INS	-	-	A																															aaagtctcaaaaacaataagINSaaaaaaaacaagctgtttct																								rs150885877	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr3:185212517_185212518insA	ENST00000421852.1	-	4	562_563	c.467_468insT	c.(466-468)ttcfs	p.F156fs	TMEM41A_ENST00000296254.3_Intron|TMEM41A_ENST00000475480.1_5'UTR	NM_080652.3	NP_542383.1	Q96HV5	TM41A_HUMAN	transmembrane protein 41A	156						integral to membrane				large_intestine(1)|lung(2)|skin(1)	4	all_cancers(143;7.78e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			AAAACAATAAGAAAAAAAACAA	0.446													A	185212518	-	A	185212517	7	5	680	1	0	1	1	0	0	0	0	0	16264	933	33	0	334	0	TMEM41A	3	185212517	Frame_Shift_Ins	INS	-	TCGA-R8-A6MK-01A-11D-A32B-08	153181487	185212517	12809913	6	53316											
HTT	3064	broad.mit.edu	37	chr4	3214422	3214422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggacattgtgaaattcgtgGtggcaacccttgaggtaaga	12	10	13	6	1	0	3	0	2	0	1	1	4	0	4	1	4	1	2	1	4	3	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:3214422G>A	ENST00000355072.5	+	49	6905	c.6760G>A	c.(6760-6762)Gtg>Atg	p.V2254M		NM_002111.6	NP_002102	P42858	HD_HUMAN	huntingtin	2254					establishment of mitotic spindle orientation|Golgi organization|retrograde vesicle-mediated transport, Golgi to ER|vesicle transport along microtubule	autophagic vacuole|axon|cytoplasmic vesicle membrane|cytosol|dendrite|endoplasmic reticulum|Golgi apparatus|late endosome|membrane fraction|nucleus|protein complex	beta-tubulin binding|dynactin binding|dynein intermediate chain binding|p53 binding|transcription factor binding			breast(1)|cervix(2)|endometrium(14)|kidney(5)|large_intestine(23)|lung(28)|ovary(4)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	87		all_epithelial(65;0.18)		UCEC - Uterine corpus endometrioid carcinoma (64;0.187)		GAAATTCGTGGTGGCAACCCT	0.547													A	3214422	G	A	3214422	3	1	680	1	0	0	0	0	1	0	0	0	7515	1261	44	2	6954	2	HTT	4	3214422	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		3214422	187939854	7	53317											
ARAP2	116984	broad.mit.edu	37	chr4	36121334	36121334	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catttgtttgacttgatcttCtttaacctgtttaaaatata	11	20	4	6	0	2	2	0	2	2	0	2	2	2	2	1	0	1	2	1	0	5	10			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:36121334C>T	ENST00000303965.4	-	24	4390	c.3901G>A	c.(3901-3903)Gaa>Aaa	p.E1301K		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	1301					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						ACTTGATCTTCTTTAACCTGT	0.299													T	36121334	C	T	36121334	3	4	680	1	0	0	0	0	1	0	0	0	842	922	32	2	1253	2	ARAP2	4	36121334	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	32906912	36121334	155032942	8	53318											
INPP4B	8821	broad.mit.edu	37	chr4	143094935	143094935	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggctgtgttttcaggTgaatagtaaataaactggta	11	15	11	4	0	1	1	1	1	0	0	1	1	1	1	0	3	1	5	0	3	7	7			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr4:143094935T>A	ENST00000513000.1	-	17	1642	c.1209A>T	c.(1207-1209)tcA>tcT	p.S403S	INPP4B_ENST00000308502.4_Silent_p.S403S|INPP4B_ENST00000509777.1_Silent_p.S403S|INPP4B_ENST00000508116.1_Silent_p.S403S|INPP4B_ENST00000262992.4_Silent_p.S403S	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	403					signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TGTTTTCAGGTGAATAGTAAA	0.383													A	143094935	T	A	143094935	2	1	680	1	0	0	0	0	0	0	0	1	7811	1683	59	5		5	INPP4B	4	143094935	Silent	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08	106973601	143094935	48059341	9	53319											
AGXT2	64902	broad.mit.edu	37	chr5	35037113	35037113	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcattggagggtggaagaaGacggtgcttgtatgccacag	10	9	16	6	1	0	2	0	0	0	2	0	4	0	4	1	4	3	3	1	4	3	3			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:35037113G>A	ENST00000231420.6	-	4	620	c.420C>T	c.(418-420)gtC>gtT	p.V140V		NM_031900.3	NP_114106.1	Q9BYV1	AGT2_HUMAN	alanine--glyoxylate aminotransferase 2	140			V -> I (in dbSNP:rs37369).		glyoxylate metabolic process|pyrimidine base metabolic process|pyrimidine nucleoside catabolic process	mitochondrial matrix	(R)-3-amino-2-methylpropionate-pyruvate transaminase activity|alanine-glyoxylate transaminase activity|pyridoxal phosphate binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(18)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	41	all_lung(31;4.52e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)	GBM - Glioblastoma multiforme(108;0.181)	Glycine(DB00145)|L-Alanine(DB00160)|Pyridoxal Phosphate(DB00114)|Pyruvic acid(DB00119)	GGTGGAAGAAGACGGTGCTTG	0.517													A	35037113	G	A	35037113	2	1	680	1	0	0	0	0	0	0	0	1	405	929	33	2		2	AGXT2	5	35037113	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		35037113	145878147	10	53320											
RAD50	10111	broad.mit.edu	37	chr5	131893129	131893129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacaattttggttggacccaAtggggcgggaaagacggtaa	12	9	14	6	2	0	1	0	0	0	1	0	3	0	3	1	6	1	2	1	6	5	5			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr5:131893129A>G	ENST00000265335.6	+	1	500	c.113A>G	c.(112-114)aAt>aGt	p.N38S	RAD50_ENST00000378823.3_5'UTR			Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	38					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GTTGGACCCAATGGGGCGGGA	0.453								Homologous recombination					G	131893129	A	G	131893129	3	3	680	1	0	0	0	0	1	0	0	0	13072	101	4	3	115	3	RAD50	5	131893129	Missense_Mutation	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08	96856016	131893129	49022131	11	53321											
DSP	1832	broad.mit.edu	37	chr6	7576615	7576615	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtggctctatgatgctaaaCgccgccaggattccttagaa	11	10	10	10	2	1	2	0	1	1	1	2	3	2	3	3	2	2	2	3	2	5	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:7576615C>T	ENST00000379802.3	+	19	3060	c.2719C>T	c.(2719-2721)Cgc>Tgc	p.R907C	DSP_ENST00000418664.2_Missense_Mutation_p.R907C	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	907	Globular 1.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGATGCTAAACGCCGCCAGGA	0.423													T	7576615	C	T	7576615	3	4	680	1	0	0	0	0	1	0	0	0	4820	536	19	1	2793	1	DSP	6	7576615	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		7576615	163538452	12	53322											
PRSS16	10279	broad.mit.edu	37	chr6	27216911	27216911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggccccagcctggggcGccctggtgataagcctggaa	6	7	14	14	1	0	1	0	1	0	0	0	2	0	2	6	5	2	0	6	5	2	2	rs149942995		TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:27216911G>A	ENST00000230582.3	+	4	385	c.370G>A	c.(370-372)Gcc>Acc	p.A124T	PRSS16_ENST00000421826.2_Intron	NM_005865.3	NP_005856.1	Q9NQE7	TSSP_HUMAN	protease, serine, 16 (thymus)	124					protein catabolic process|proteolysis	cytoplasmic membrane-bounded vesicle	serine-type peptidase activity	p.A124T(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGCCTGGGGCGCCCTGGTGAT	0.592													A	27216911	G	A	27216911	3	1	680	1	0	0	0	0	1	0	0	0	12701	1087	38	1	384	1	PRSS16	6	27216911	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	19640296	27216911	143898156	13	53323											
PLG	5340	broad.mit.edu	37	chr6	161143573	161143573	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgacaccacaccggcaccaGaagaccccagaaaactaccc	16	2	6	17	1	0	4	0	1	0	3	0	4	0	4	6	1	2	1	6	1	4	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr6:161143573G>A	ENST00000308192.9	+	10	1293	c.1230G>A	c.(1228-1230)caG>caA	p.Q410Q		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	410	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	ACCGGCACCAGAAGACCCCAG	0.483													A	161143573	G	A	161143573	2	1	680	1	0	0	0	0	0	0	0	1	12163	933	33	2		2	PLG	6	161143573	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	133926662	161143573	9971494	14	53324											
PTPRZ1	5803	broad.mit.edu	37	chr7	121676713	121676713	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatggcaaactgactgatTatatcaatgccaattatgtt	14	13	8	6	0	1	2	1	2	0	0	1	3	1	3	1	2	2	2	1	2	6	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr7:121676713T>C	ENST00000393386.2	+	18	5755	c.5344T>C	c.(5344-5346)Tat>Cat	p.Y1782H	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.Y915H	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1782	Tyrosine-protein phosphatase 1.				central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ACTGACTGATTATATCAATGC	0.303													C	121676713	T	C	121676713	3	2	680	1	0	0	0	0	1	0	0	0	12902	1754	61	3	5414	3	PTPRZ1	7	121676713	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		121676713	37461950	15	53325											
EYA1	2138	broad.mit.edu	37	chr8	72156845	72156845	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattagaacttacttctaagTcattaaaaaataaatgtgtg	18	14	5	4	0	2	1	1	0	1	1	2	1	2	1	0	0	2	0	0	0	10	6			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr8:72156845T>C	ENST00000340726.3	-	12	1772	c.1133A>G	c.(1132-1134)gAc>gGc	p.D378G	EYA1_ENST00000388741.2_Missense_Mutation_p.D344G|EYA1_ENST00000419131.1_Intron|EYA1_ENST00000388742.4_Missense_Mutation_p.D378G|EYA1_ENST00000303824.7_Missense_Mutation_p.D372G|EYA1_ENST00000388743.2_Missense_Mutation_p.D377G|EYA1_ENST00000388740.3_Missense_Mutation_p.D345G	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	378					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TACTTCTAAGTCATTAAAAAA	0.279													C	72156845	T	C	72156845	3	2	680	1	0	0	0	0	1	0	0	0	5370	1667	58	3	673	3	EYA1	8	72156845	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		72156845	74207177	16	53326											
CPEB3	22849	broad.mit.edu	37	chr10	93870871	93870872	+	Frame_Shift_Del	DEL	AG	AG	-																															ggggcttgacacacacaggtAgagtttcccatcttcttcta																										TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr10:93870871_93870872delAG	ENST00000412050.4	-	7	1579_1580	c.1491_1492delCT	c.(1489-1494)ctctacfs	p.Y498fs	CPEB3_ENST00000265997.4_Frame_Shift_Del_p.Y512fs	NM_001178137.1	NP_001171608.1	Q8NE35	CPEB3_HUMAN	cytoplasmic polyadenylation element binding protein 3	512	RRM 1.						nucleotide binding|RNA binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(5)|skin(2)|upper_aerodigestive_tract(2)	18		Colorectal(252;0.0869)				ACACACAGGTAGAGTTTCCCAT	0.465													-	93870872	AG	-	93870871	7	5	680	1	0	1	0	1	0	0	0	0	3833	420	15	0	578	0	CPEB3	10	93870871	Frame_Shift_Del	DEL	AG	TCGA-R8-A6MK-01A-11D-A32B-08		93870871	41663876	17	53327											
SLC22A20	440044	broad.mit.edu	37	chr11	64981480	64981481	+	RNA	INS	-	-	C																															cagaacttcacggccgctgtINSccccccccaccactgccggg																										TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:64981480_64981481insC	ENST00000525437.1	+	0	170_171							A6NK97	S22AK_HUMAN							ion transport	integral to membrane	transmembrane transporter activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(2)	8						ACGGCCGCTGTCCCCCCCCACC	0.693													C	64981481	-	C	64981480	6	5	680	0	1	1	1	0	0	0	0	0	14546	1667	58	0		0	SLC22A20	11	64981480	RNA	INS	-	TCGA-R8-A6MK-01A-11D-A32B-08		64981480	70025036	18	53328											
CCS	9973	broad.mit.edu	37	chr11	66368006	66368006	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcatctcatgggggccccCaggactctgaccgggtaagt	8	7	14	12	1	2	1	1	1	2	0	3	3	2	2	3	4	1	2	3	4	1	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr11:66368006C>T	ENST00000533244.1	+	5	916	c.475C>T	c.(475-477)Cag>Tag	p.Q159*	CCS_ENST00000310190.4_Nonsense_Mutation_p.Q140*	NM_005125.1	NP_005116.1	O14618	CCS_HUMAN	copper chaperone for superoxide dismutase	159	Superoxide dismutase-like.				intracellular copper ion transport|oxidation-reduction process|removal of superoxide radicals	cytosol|mitochondrial inner membrane|nucleus|soluble fraction	copper ion transmembrane transporter activity|protein binding|superoxide dismutase copper chaperone activity|zinc ion binding			breast(2)|cervix(1)|large_intestine(2)|lung(3)|stomach(1)	9						TGGGGGCCCCCAGGACTCTGA	0.562													T	66368006	C	T	66368006	4	4	680	1	0	0	0	0	0	1	0	0	2982	595	21	2	493	2	CCS	11	66368006	Nonsense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08	1386526	66368006	68638510	19	53329											
KRT6A	3853	broad.mit.edu	37	chr12	52886575	52886575	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cggtgacctcttggatgcctCcaggggggcacacagggaag	8	6	16	11	1	1	1	0	1	1	0	2	3	2	3	3	6	1	1	3	6	1	1			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:52886575C>T	ENST00000330722.6	-	1	466	c.398G>A	c.(397-399)gGa>gAa	p.G133E		NM_005554.3	NP_005545.1	P02538	K2C6A_HUMAN	keratin 6A	133	Head.				cell differentiation|ectoderm development|positive regulation of cell proliferation	keratin filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	39				BRCA - Breast invasive adenocarcinoma(357;0.189)		TTGGATGCCTCCAGGGGGGCA	0.632													T	52886575	C	T	52886575	3	4	680	1	0	0	0	0	1	0	0	0	8538	855	30	2	1332	2	KRT6A	12	52886575	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		52886575	80965320	20	53330											
LRP1	4035	broad.mit.edu	37	chr12	57589082	57589084	+	In_Frame_Del	DEL	CTC	CTC	-																															acgtgcggcccctcctccttCtcctgccctggcacccacgt																										TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:57589082_57589084delCTC	ENST00000243077.3	+	52	8803_8805	c.8337_8339delCTC	c.(8335-8340)ttctcc>ttc	p.S2780del		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	2780	LDL-receptor class A 17.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCTCCTCCTTCTCCTGCCCTGGC	0.611													-	57589084	CTC	-	57589082	7	5	680	1	0	1	0	1	0	0	0	0	9021	912	32	0	8543	0	LRP1	12	57589082	In_Frame_Del	DEL	CTC	TCGA-R8-A6MK-01A-11D-A32B-08	4702507	57589082	76262813	21	53331											
CUX2	23316	broad.mit.edu	37	chr12	111748437	111748437	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagatgaagcagttcctgtcGgatgagcagaatgtactggc	12	9	13	7	1	0	4	0	2	0	2	2	5	1	5	1	2	3	4	1	2	4	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr12:111748437G>A	ENST00000261726.6	+	15	2005	c.1851G>A	c.(1849-1851)tcG>tcA	p.S617S		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	617						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGTTCCTGTCGGATGAGCAGA	0.652													A	111748437	G	A	111748437	2	1	680	1	0	0	0	0	0	0	0	1	4098	1103	39	1		1	CUX2	12	111748437	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	54159355	111748437	22103458	22	53332											
NEDD4	4734	broad.mit.edu	37	chr15	56132818	56132818	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	actaaccatccaacagtttgCcatgataaactgccattcca	14	10	4	13	0	0	1	0	1	0	0	2	1	2	1	5	0	5	1	5	0	4	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr15:56132818C>T	ENST00000508342.1	-	16	3502	c.3203G>A	c.(3202-3204)gGc>gAc	p.G1068D	NEDD4_ENST00000338963.2_Missense_Mutation_p.G996D|NEDD4_ENST00000506154.1_Missense_Mutation_p.G1052D|NEDD4_ENST00000435532.3_Missense_Mutation_p.G649D	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	1068	HECT.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		CAACAGTTTGCCATGATAAAC	0.338													T	56132818	C	T	56132818	3	4	680	1	0	0	0	0	1	0	0	0	10386	739	26	2	796	2	NEDD4	15	56132818	Missense_Mutation	SNP	C	TCGA-R8-A6MK-01A-11D-A32B-08		56132818	46398574	23	53333											
IFT140	9742	broad.mit.edu	37	chr16	1570263	1570263	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtagttagcagccatgaTgtagatttccttctgcctgg	8	13	11	9	0	1	2	0	1	1	1	2	2	2	2	3	2	3	4	3	2	3	5			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:1570263T>C	ENST00000426508.2	-	28	4105	c.3742A>G	c.(3742-3744)Atc>Gtc	p.I1248V	IFT140_ENST00000361339.5_Missense_Mutation_p.I442V	NM_014714.3	NP_055529.2	Q96RY7	IF140_HUMAN	intraflagellar transport 140 homolog (Chlamydomonas)	1248										breast(1)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(12)|lung(10)|ovary(5)|pancreas(1)|prostate(4)|skin(4)|stomach(2)|urinary_tract(1)	53		Hepatocellular(780;0.219)				GCAGCCATGATGTAGATTTCC	0.577													C	1570263	T	C	1570263	3	2	680	1	0	0	0	0	1	0	0	0	7614	1464	51	3	662	3	IFT140	16	1570263	Missense_Mutation	SNP	T	TCGA-R8-A6MK-01A-11D-A32B-08		1570263	88784490	24	53334											
PPL	5493	broad.mit.edu	37	chr16	4935555	4935557	+	In_Frame_Del	DEL	AGG	AGG	-																															gggcggccacacgctgctgcAggaggagcacctctgcctcc																										TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:4935555_4935557delAGG	ENST00000345988.2	-	22	3188_3190	c.3099_3101delCCT	c.(3097-3102)ctcctg>ctg	p.1033_1034LL>L	PPL_ENST00000590782.2_In_Frame_Del_p.1031_1032LL>L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1033					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACGCTGCTGCAGGAGGAGCACCT	0.66													-	4935557	AGG	-	4935555	7	5	680	1	0	1	0	1	0	0	0	0	12416	188	7	0	2173	0	PPL	16	4935555	In_Frame_Del	DEL	AGG	TCGA-R8-A6MK-01A-11D-A32B-08	3365292	4935555	85419198	25	53335											
RBBP6	5930	broad.mit.edu	37	chr16	24582708	24582709	+	Frame_Shift_Del	DEL	AA	AA	-																															tgaatgaacaaggaaattttAaaagtctgtctcaatcttcc																								rs140198744	byFrequency	TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:24582708_24582709delAA	ENST00000319715.4	+	18	4753_4754	c.4321_4322delAA	c.(4321-4323)aaafs	p.K1441fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.K601fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.K1407fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1441	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AGGAAATTTTAAAAGTCTGTCT	0.391													-	24582709	AA	-	24582708	7	5	680	1	0	1	0	1	0	0	0	0	13191	363	13	0	4445	0	RBBP6	16	24582708	Frame_Shift_Del	DEL	AA	TCGA-R8-A6MK-01A-11D-A32B-08	19647153	24582708	65772045	26	53336											
ATP2A1	487	broad.mit.edu	37	chr16	28909640	28909640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acggggccggtgaaggaaaaGatcatggcggtgatcaagga	13	5	17	6	3	2	3	2	2	0	1	2	5	2	5	1	7	0	0	1	7	4	0			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr16:28909640G>A	ENST00000395503.4	+	14	1816	c.1632G>A	c.(1630-1632)aaG>aaA	p.K544K	ATP2A1_ENST00000357084.3_Silent_p.K544K|ATP2A1_ENST00000536376.1_Silent_p.K419K	NM_004320.4	NP_004311.1	O14983	AT2A1_HUMAN	ATPase, Ca++ transporting, cardiac muscle, fast twitch 1	544					apoptosis in response to endoplasmic reticulum stress|apoptotic mitochondrial changes|ATP biosynthetic process|calcium ion import|elevation of endoplasmic reticulum calcium ion concentration|elevation of mitochondrial calcium ion concentration|maintenance of mitochondrion location|negative regulation of striated muscle contraction|platelet activation|positive regulation of fast-twitch skeletal muscle fiber contraction|reduction of endoplasmic reticulum calcium ion concentration|relaxation of skeletal muscle|response to endoplasmic reticulum stress	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|H zone|I band|microsome|perinuclear region of cytoplasm|platelet dense tubular network membrane|sarcoplasmic reticulum|sarcoplasmic reticulum membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(2)	38						TGAAGGAAAAGATCATGGCGG	0.652													A	28909640	G	A	28909640	2	1	680	1	0	0	0	0	0	0	0	1	1141	933	33	2		2	ATP2A1	16	28909640	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	4326932	28909640	61445113	27	53337											
GEMIN4	50628	broad.mit.edu	37	chr17	648477	648477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtttgaccacgtggttccAgccttccagaggaagccaat	10	9	11	11	1	0	2	0	1	0	1	2	4	2	3	5	2	2	2	5	2	2	3			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:648477A>G	ENST00000576778.1	-	1	4114	c.2773T>C	c.(2773-2775)Tgg>Cgg	p.W925R	GEMIN4_ENST00000319004.5_Missense_Mutation_p.W936R			P57678	GEMI4_HUMAN	gem (nuclear organelle) associated protein 4	936					rRNA processing|spliceosomal snRNP assembly	Cajal body|cytosol|nucleolus|small nuclear ribonucleoprotein complex|spliceosomal complex	protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(4)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		Myeloproliferative disorder(207;0.204)		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACGTGGTTCCAGCCTTCCAGA	0.577													G	648477	A	G	648477	3	3	680	1	0	0	0	0	1	0	0	0	6386	188	7	3	374	3	GEMIN4	17	648477	Missense_Mutation	SNP	A	TCGA-R8-A6MK-01A-11D-A32B-08		648477	80546733	28	53338											
CACNA1G	8913	broad.mit.edu	37	chr17	48646633	48646633	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggagacacttggaaccgGcttgactttttcatcgtcat	8	13	10	10	2	2	2	2	1	0	1	3	4	2	3	1	3	1	1	1	3	1	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr17:48646633G>A	ENST00000352832.5	+	3	834	c.462G>A	c.(460-462)cgG>cgA	p.R154R	CACNA1G_ENST00000503485.1_Silent_p.R154R|CACNA1G_ENST00000510115.1_Silent_p.R154R|CACNA1G_ENST00000515165.1_Silent_p.R154R|CACNA1G_ENST00000515765.1_Silent_p.R154R|CACNA1G_ENST00000502264.1_Silent_p.R154R|CACNA1G_ENST00000510366.1_Silent_p.R154R|CACNA1G_ENST00000507896.1_Silent_p.R154R|CACNA1G_ENST00000429973.2_Silent_p.R154R|CACNA1G_ENST00000358244.5_Silent_p.R154R|CACNA1G_ENST00000507510.2_Silent_p.R154R|CACNA1G_ENST00000514079.1_Silent_p.R154R|CACNA1G_ENST00000416767.4_Silent_p.R154R|CACNA1G_ENST00000507609.1_Silent_p.R154R|CACNA1G_ENST00000514181.1_Silent_p.R154R|CACNA1G_ENST00000505165.1_Silent_p.R154R|CACNA1G_ENST00000513689.2_Silent_p.R154R|CACNA1G_ENST00000507336.1_Silent_p.R154R|CACNA1G_ENST00000512389.1_Silent_p.R154R|CACNA1G_ENST00000360761.4_Silent_p.R154R|CACNA1G_ENST00000354983.4_Silent_p.R154R|CACNA1G_ENST00000515411.1_Silent_p.R154R|CACNA1G_ENST00000514717.1_Silent_p.R154R|CACNA1G_ENST00000442258.2_Silent_p.R154R|CACNA1G_ENST00000359106.5_Silent_p.R154R|CACNA1G_ENST00000513964.1_Silent_p.R154R	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	154					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTTGGAACCGGCTTGACTTTT	0.562													A	48646633	G	A	48646633	2	1	680	1	0	0	0	0	0	0	0	1	2570	1190	42	2		2	CACNA1G	17	48646633	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	47998156	48646633	32548577	29	53339											
MC2R	4158	broad.mit.edu	37	chr18	13884744	13884744	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atcaacatgccgttcacctgGaagagagacatgtagcaggc	13	7	11	10	1	2	2	2	0	0	2	2	4	2	3	2	2	3	3	2	2	3	2			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:13884744G>A	ENST00000327606.3	-	2	954	c.774C>T	c.(772-774)ttC>ttT	p.F258F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	258					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	CGTTCACCTGGAAGAGAGACA	0.517													A	13884744	G	A	13884744	2	1	680	1	0	0	0	0	0	0	0	1	9439	1165	41	2		2	MC2R	18	13884744	Silent	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08		13884744	64192504	30	53340											
CTAGE1	64693	broad.mit.edu	37	chr18	19995803	19995803	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggtggaggaacaaagccagGgccagttgcttcattttcag	11	9	13	8	0	2	0	2	0	0	0	2	2	2	2	2	4	3	2	2	4	2	4			TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr18:19995803G>A	ENST00000391403.2	-	1	2075	c.1972C>T	c.(1972-1974)Cct>Tct	p.P658S		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	658	Pro-rich.					integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ACAAAGCCAGGGCCAGTTGCT	0.463													A	19995803	G	A	19995803	3	1	680	1	0	0	0	0	1	0	0	0	4025	1232	43	2	269	2	CTAGE1	18	19995803	Missense_Mutation	SNP	G	TCGA-R8-A6MK-01A-11D-A32B-08	6111059	19995803	58081445	31	53341											
CIC	23152	broad.mit.edu	37	chr19	42793215	42793218	+	Frame_Shift_Del	DEL	CAGT	CAGT	-																															ctggacggcggagaagtagaCagtcaggcgctacaggaact																										TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:42793215_42793218delCAGT	ENST00000572681.2	+	8	3902_3905	c.3834_3837delCAGT	c.(3832-3837)gacagtfs	p.DS1278fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.DS369fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.DS369fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	369	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAGAAGTAGACAGTCAGGCGCTAC	0.667			"Mis, F, S"		oligodendroglioma								-	42793218	CAGT	-	42793215	7	5	680	1	0	1	0	1	0	0	0	0	3454	477	17	0	1133	0	CIC	19	42793215	Frame_Shift_Del	DEL	CAGT	TCGA-R8-A6MK-01A-11D-A32B-08		42793215	16335768	32	53342											
ZNF135	7694	broad.mit.edu	37	chr19	58578565	58578568	+	Frame_Shift_Del	DEL	GAGA	GAGA	-																															acaccaccggacgcacacagGagagagaccttacgaatgtc																										TCGA-R8-A6MK-01A-11D-A32B-08	TCGA-R8-A6MK-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	527952da-86f1-497f-9891-a7728bb2699a	a1a9a719-4580-47e5-b1cf-ee58268f754f	g.chr19:58578565_58578568delGAGA	ENST00000506786.1	+	5	1141_1144	c.587_590delGAGA	c.(586-591)ggagagfs	p.GE196fs	ZNF135_ENST00000401053.4_Frame_Shift_Del_p.GE262fs|ZNF135_ENST00000359978.6_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000511556.1_Frame_Shift_Del_p.GE250fs|ZNF135_ENST00000313434.5_Frame_Shift_Del_p.GE238fs|ZNF135_ENST00000439855.2_Frame_Shift_Del_p.GE238fs			B4DHH9	B4DHH9_HUMAN	zinc finger protein 135	250					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(6)|liver(2)|lung(26)|ovary(1)|skin(1)|urinary_tract(1)	41		Colorectal(82;0.000256)|all_neural(62;0.0412)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0161)		ACGCACACAGGAGAGAGACCTTAC	0.475													-	58578568	GAGA	-	58578565	7	5	680	1	0	1	0	1	0	0	0	0	17826	1174	41	0	916	0	ZNF135	19	58578565	Frame_Shift_Del	DEL	GAGA	TCGA-R8-A6MK-01A-11D-A32B-08	15785350	58578565	550418	33	53343											
FAM167B	84734	broad.mit.edu	37	chr1	32713189	32713189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtccagagccaggcctggcGcagggcccaagccaaacctg	9	3	14	15	1	0	1	0	0	0	1	1	1	1	1	6	4	3	1	6	4	2	0			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:32713189G>A	ENST00000373582.3	+	1	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	56								p.R56H(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGGCCTGGCGCAGGGCCCAA	0.637													A	32713189	G	A	32713189	3	1	681	1	0	0	0	0	1	0	0	0	5529	1087	38	1	169	1	FAM167B	1	32713189	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		32713189	216537432	1	53344											
SYCP1	6847	broad.mit.edu	37	chr1	115520223	115520224	+	Frame_Shift_Ins	INS	-	-	A																															aaacacagctactcttaaagINSaaaaaaaagacaaggtaaga																										TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:115520223_115520224insA	ENST00000369522.3	+	28	2608_2609	c.2368_2369insA	c.(2368-2370)gaafs	p.E790fs	SYCP1_ENST00000477590.1_3'UTR|SYCP1_ENST00000369518.1_Frame_Shift_Ins_p.E790fs	NM_001282541.1|NM_003176.2	NP_001269470.1|NP_003167.2	Q15431	SYCP1_HUMAN	synaptonemal complex protein 1	790					cell division|reciprocal meiotic recombination|spermatogenesis|synaptonemal complex assembly		DNA binding		RGS22/SYCP1(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	48	Lung SC(450;0.211)	all_cancers(81;8.65e-08)|all_epithelial(167;3.32e-07)|all_lung(203;6.55e-06)|Lung NSC(69;1.11e-05)|Acute lymphoblastic leukemia(138;0.221)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTAAAGAAAAAAAAGAC	0.252													A	115520224	-	A	115520223	7	5	681	1	0	1	1	0	0	0	0	0	15528	943	33	0	2474	0	SYCP1	1	115520223	Frame_Shift_Ins	INS	-	TCGA-R8-A6ML-01A-11D-A32B-08	82807034	115520223	133730398	2	53345											
FAM71A	149647	broad.mit.edu	37	chr1	212798743	212798743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaactaatttacctcttgcGgccacccatggagagtaaca	14	9	7	11	1	1	1	0	0	1	1	1	2	1	1	3	2	4	1	3	2	5	5			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr1:212798743G>A	ENST00000294829.3	+	1	955	c.524G>A	c.(523-525)cGg>cAg	p.R175Q	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	175										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		TACCTCTTGCGGCCACCCATG	0.517													A	212798743	G	A	212798743	3	1	681	1	0	0	0	0	1	0	0	0	5657	1116	39	1	526	1	FAM71A	1	212798743	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	97278520	212798743	36451878	3	53346											
NT5C1B	93034	broad.mit.edu	37	chr2	18768318	18768318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacatgtgaatataaataCgtattgtgtggcaggggcca	12	10	13	6	1	0	1	0	1	0	0	0	1	0	1	1	4	1	3	1	4	6	5	rs150116798	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:18768318C>T	ENST00000359846.2	-	3	319	c.242G>A	c.(241-243)cGt>cAt	p.R81H	NT5C1B_ENST00000600945.1_Missense_Mutation_p.R81H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R81H|NT5C1B_ENST00000304081.4_Intron|NT5C1B_ENST00000460052.1_Intron	NM_001002006.2|NM_001199086.1|NM_001199087.1|NM_001199088.1	NP_001002006.1|NP_001186015.1|NP_001186016.1|NP_001186017.1			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				AATATAAATACGTATTGTGTG	0.547													T	18768318	C	T	18768318	3	4	681	1	0	0	0	0	1	0	0	0	10762	536	19	1	1622	1	NT5C1B	2	18768318	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		18768318	224431055	4	53347											
SGOL2	151246	broad.mit.edu	37	chr2	201437641	201437641	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatttctgaaaatctacaaGtcacaaatgaatttcaaaca	19	11	3	8	0	4	2	2	2	2	0	4	2	4	2	0	0	2	0	0	0	8	3			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr2:201437641G>T	ENST00000357799.4	+	7	2670	c.2572G>T	c.(2572-2574)Gtc>Ttc	p.V858F		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	858					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAATCTACAAGTCACAAATGA	0.299													T	201437641	G	T	201437641	3	4	681	1	0	0	0	0	1	0	0	0	14310	1029	36	4	2594	4	SGOL2	2	201437641	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	182669323	201437641	41761732	5	53348											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	681	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	7675471	209113112	34086261	6	53349											
SEMA3G	56920	broad.mit.edu	37	chr3	52474396	52474396	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagcagatactcaccacGccagggcgagggaagggcac	11	2	13	15	2	1	1	1	0	0	1	1	3	1	2	4	3	2	2	4	3	2	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:52474396G>A	ENST00000231721.2	-	10	1139	c.1140C>T	c.(1138-1140)ggC>ggT	p.G380G		NM_020163.1	NP_064548.1	Q9NS98	SEM3G_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3G	380	Sema.				multicellular organismal development	extracellular region|membrane	receptor activity			kidney(1)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)	18				BRCA - Breast invasive adenocarcinoma(193;1.69e-05)|Kidney(197;0.00173)|KIRC - Kidney renal clear cell carcinoma(197;0.00196)|OV - Ovarian serous cystadenocarcinoma(275;0.0333)		TACTCACCACGCCAGGGCGAG	0.662													A	52474396	G	A	52474396	2	1	681	1	0	0	0	0	0	0	0	1	14123	1074	38	1		1	SEMA3G	3	52474396	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		52474396	145548034	7	53350											
WDR52	55779	broad.mit.edu	37	chr3	113138965	113138965	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcccagctatgtatatggCgatactgtcgtccagaagtt	9	13	10	9	2	0	1	0	0	0	1	3	2	2	1	2	1	2	4	2	1	5	6			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr3:113138965C>T	ENST00000393845.2	-	5	535	c.469G>A	c.(469-471)Gcc>Acc	p.A157T	WDR52_ENST00000295868.2_Missense_Mutation_p.A157T|WDR52-AS1_ENST00000498480.1_RNA|WDR52-AS1_ENST00000473329.1_RNA	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	157								p.A157T(2)		breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						ATGTATATGGCGATACTGTCG	0.428													T	113138965	C	T	113138965	3	4	681	1	0	0	0	0	1	0	0	0	17406	768	27	1	5234	1	WDR52	3	113138965	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	60664569	113138965	84883465	8	53351											
SLIT2	9353	broad.mit.edu	37	chr4	20569157	20569157	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggggcaggactgtgatgTcccaattcatgcctgcatca	9	9	11	12	0	2	1	2	1	0	0	3	2	3	2	3	3	2	2	3	3	1	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr4:20569157T>C	ENST00000504154.1	+	28	3119	c.2867T>C	c.(2866-2868)gTc>gCc	p.V956A	SLIT2_ENST00000503823.1_Missense_Mutation_p.V948A|SLIT2_ENST00000273739.5_Missense_Mutation_p.V960A|SLIT2_ENST00000503837.1_Missense_Mutation_p.V952A	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	956					apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GACTGTGATGTCCCAATTCAT	0.443													C	20569157	T	C	20569157	3	2	681	1	0	0	0	0	1	0	0	0	14834	1667	58	3	2977	3	SLIT2	4	20569157	Missense_Mutation	SNP	T	TCGA-R8-A6ML-01A-11D-A32B-08		20569157	170585119	9	53352											
NIPBL	25836	broad.mit.edu	37	chr5	36953806	36953816	+	Frame_Shift_Del	DEL	GGGATATGCCC	GGGATATGCCC	-																															ccagaaattcaggatgaatgGggatatgccccatgtcccca																										TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:36953806_36953816delGGGATATGCCC	ENST00000282516.8	+	2	507_517	c.8_18delGGGATATGCCC	c.(7-18)ggggatatgcccfs	p.GDMP3fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.GDMP3fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	3					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AGGATGAATGGGGATATGCCCCATGTCCCCA	0.398													-	36953816	GGGATATGCCC	-	36953806	7	5	681	1	0	1	0	1	0	0	0	0	10504	1232	43	0	10	0	NIPBL	5	36953806	Frame_Shift_Del	DEL	GGGATATGCCC	TCGA-R8-A6ML-01A-11D-A32B-08		36953806	143961454	10	53353											
F12	2161	broad.mit.edu	37	chr5	176833045	176833045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaggggaagtggcagggctCcccggtgacagtgagaactg	10	5	18	8	1	0	2	0	2	0	1	1	5	1	3	2	5	1	2	2	5	3	0			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr5:176833045C>T	ENST00000253496.3	-	3	181	c.133G>A	c.(133-135)Gag>Aag	p.E45K		NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	45	Fibronectin type-II.				Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			TGGCAGGGCTCCCCGGTGACA	0.597									Hereditary Angioedema				T	176833045	C	T	176833045	3	4	681	1	0	0	0	0	1	0	0	0	5381	864	30	2	1762	2	F12	5	176833045	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	139879239	176833045	4082215	11	53354											
NHLRC1	378884	broad.mit.edu	37	chr6	18121764	18121764	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgaaagaccatgagtgacCatgggcttcggtactggaaa	12	8	13	8	2	0	3	0	2	0	1	1	5	0	4	2	3	2	2	2	3	3	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:18121764C>T	ENST00000340650.3	-	1	1087	c.1074G>A	c.(1072-1074)atG>atA	p.M358I		NM_198586.2	NP_940988.2	Q6VVB1	NHLC1_HUMAN	NHL repeat containing 1	358					proteasomal ubiquitin-dependent protein catabolic process|protein polyubiquitination	endoplasmic reticulum|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|kidney(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(2)	11	Ovarian(93;0.016)|Breast(50;0.0245)	all_hematologic(90;0.165)	all cancers(50;0.0451)|Epithelial(50;0.0493)			CATGAGTGACCATGGGCTTCG	0.448													T	18121764	C	T	18121764	3	4	681	1	0	0	0	0	1	0	0	0	10481	594	21	2	117	2	NHLRC1	6	18121764	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		18121764	152993303	12	53355											
SOX4	6659	broad.mit.edu	37	chr6	21594926	21594926	+	Frame_Shift_Del	DEL	C	C	-																															cgacccgagctggtgcaagaCcccgagtgggcacatcaagc																										TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:21594926delC	ENST00000244745.1	+	1	955	c.161delC	c.(160-162)accfs	p.T54fs	SOX4_ENST00000543472.1_Frame_Shift_Del_p.T54fs	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	54					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			TGGTGCAAGACCCCGAGTGGG	0.687													-	21594926	C	-	21594926	7	5	681	1	0	1	0	1	0	0	0	0	15047	507	18	0	163	0	SOX4	6	21594926	Frame_Shift_Del	DEL	C	TCGA-R8-A6ML-01A-11D-A32B-08	3473162	21594926	149520141	13	53356											
WDR27	253769	broad.mit.edu	37	chr6	170013708	170013708	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tcgccaatggccgtggtcagGaaaaggttataagcctgagg	11	8	14	8	2	1	1	1	1	0	0	2	2	1	2	3	5	1	1	3	5	5	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr6:170013708G>A	ENST00000333572.6	-	22	2787	c.2268C>T	c.(2266-2268)ttC>ttT	p.F756F	WDR27_ENST00000546525.1_5'UTR|WDR27_ENST00000448612.1_Silent_p.F756F|WDR27_ENST00000423258.1_Silent_p.F629F			A2RRH5	WDR27_HUMAN	WD repeat domain 27	726										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CCGTGGTCAGGAAAAGGTTAT	0.498													A	170013708	G	A	170013708	2	1	681	1	0	0	0	0	0	0	0	1	17386	1165	41	2		2	WDR27	6	170013708	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08	148418782	170013708	1101359	14	53357											
RBM28	55131	broad.mit.edu	37	chr7	127970947	127970947	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactgttggagaagctcccCaagttcttcttcttctgagt	9	14	8	10	0	4	2	0	1	4	1	5	3	5	2	2	1	2	3	2	1	3	5			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr7:127970947C>T	ENST00000223073.2	-	10	1168	c.1054G>A	c.(1054-1056)Ggg>Agg	p.G352R	RBM28_ENST00000415472.2_Missense_Mutation_p.G211R	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 3.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding	p.G352L(1)		breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						AGAAGCTCCCCAAGTTCTTCT	0.428													T	127970947	C	T	127970947	3	4	681	1	0	0	0	0	1	0	0	0	13216	594	21	2	1265	2	RBM28	7	127970947	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		127970947	31167716	15	53358											
NOTCH1	4851	broad.mit.edu	37	chr9	139413213	139413213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgggtgttgtggcaggtcCcgccgttctggcaggcattt	3	12	16	10	3	1	0	0	0	1	0	2	0	2	0	2	5	0	5	2	5	0	3			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr9:139413213C>T	ENST00000277541.6	-	6	1004	c.929G>A	c.(928-930)gGg>gAg	p.G310E		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	310	EGF-like 8; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		GTGGCAGGTCCCGCCGTTCTG	0.627			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139413213	C	T	139413213	3	4	681	1	0	0	0	0	1	0	0	0	10623	623	22	2	6854	2	NOTCH1	9	139413213	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		139413213	1800218	16	53359											
MPZL2	10205	broad.mit.edu	37	chr11	118133774	118133774	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attaacagcctccagcacccGggaggtataaatttccacag	13	8	8	12	1	0	0	0	0	0	0	2	1	2	1	4	2	3	2	4	2	4	4			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr11:118133774G>T	ENST00000278937.2	-	2	225	c.97C>A	c.(97-99)Cgg>Agg	p.R33R	MPZL2_ENST00000438295.2_Silent_p.R33R|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	33	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		TCCAGCACCCGGGAGGTATAA	0.463													T	118133774	G	T	118133774	2	4	681	1	0	0	0	0	0	0	0	1	9826	1115	39	4		4	MPZL2	11	118133774	Silent	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		118133774	16872742	17	53360											
MEGF11	84465	broad.mit.edu	37	chr15	66206129	66206129	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcaggtgtgtaggagacacGgggagccaggtctcggccct	7	6	18	10	2	1	1	0	0	1	1	2	3	1	2	2	7	1	2	2	7	1	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr15:66206129G>A	ENST00000409699.2	-	20	2828	c.2656C>T	c.(2656-2658)Cgt>Tgt	p.R886C	MEGF11_ENST00000422354.1_Missense_Mutation_p.R886C|MEGF11_ENST00000395625.2_Missense_Mutation_p.R811C|MEGF11_ENST00000478721.1_5'UTR|MEGF11_ENST00000360698.4_3'UTR|MEGF11_ENST00000288745.3_Missense_Mutation_p.R811C|MEGF11_ENST00000395614.1_Missense_Mutation_p.R59C			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11	886						basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TAGGAGACACGGGGAGCCAGG	0.602													A	66206129	G	A	66206129	3	1	681	1	0	0	0	0	1	0	0	0	9536	1116	39	1	494	1	MEGF11	15	66206129	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		66206129	36325263	18	53361											
CRYBA1	1411	broad.mit.edu	37	chr17	27580753	27580753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacccctccttgcaagccatGggctggttcaacaacgaagt	10	9	9	13	1	1	0	1	0	0	0	2	1	2	0	4	2	5	3	4	2	5	3			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:27580753G>A	ENST00000225387.3	+	5	454	c.453G>A	c.(451-453)atG>atA	p.M151I		NM_005208.4	NP_005199.2	P05813	CRBA1_HUMAN	crystallin, beta A1	151	Beta/gamma crystallin 'Greek key' 3.				visual perception	soluble fraction	structural constituent of eye lens			breast(1)|large_intestine(2)|lung(1)|prostate(1)	5			BRCA - Breast invasive adenocarcinoma(11;3.3e-05)|Colorectal(6;0.0178)|COAD - Colon adenocarcinoma(6;0.0551)			TGCAAGCCATGGGCTGGTTCA	0.453													A	27580753	G	A	27580753	3	1	681	1	0	0	0	0	1	0	0	0	3938	1348	47	2	471	2	CRYBA1	17	27580753	Missense_Mutation	SNP	G	TCGA-R8-A6ML-01A-11D-A32B-08		27580753	53614457	19	53362											
KRT25	147183	broad.mit.edu	37	chr17	38906799	38906799	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcctggatctgcgccagctgCgcacagtagttgctctcggt	5	10	13	13	3	2	0	0	0	2	0	3	1	2	1	2	2	4	5	2	2	1	2			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr17:38906799C>T	ENST00000312150.4	-	6	1068	c.1008G>A	c.(1006-1008)gcG>gcA	p.A336A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	336	Coil 2.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GCGCCAGCTGCGCACAGTAGT	0.562													T	38906799	C	T	38906799	2	4	681	1	0	0	0	0	0	0	0	1	8520	755	27	1		1	KRT25	17	38906799	Silent	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08	11326046	38906799	42288411	20	53363											
CIC	23152	broad.mit.edu	37	chr19	42795743	42795744	+	Frame_Shift_Ins	INS	-	-	G																															cccgtgcaggccccgcccccINSgggtggctcagcccagctgc																										TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr19:42795743_42795744insG	ENST00000572681.2	+	12	5527_5528	c.5459_5460insG	c.(5458-5463)ccgggtfs	p.PG1820fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.PG911fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.PG911fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	911					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.P911P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCGCCCCCGGGTGGCTCAG	0.649			"Mis, F, S"		oligodendroglioma								G	42795744	-	G	42795743	7	5	681	1	0	1	1	0	0	0	0	0	3454	652	23	0	2774	0	CIC	19	42795743	Frame_Shift_Ins	INS	-	TCGA-R8-A6ML-01A-11D-A32B-08		42795743	16333240	21	53364											
TMPRSS15	5651	broad.mit.edu	37	chr21	19732164	19732164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgaagctcagtttaatggAaagtccttggtttacactaa	13	13	8	7	1	1	0	1	0	0	0	3	2	2	1	1	2	2	3	1	2	5	6			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr21:19732164A>G	ENST00000284885.3	-	8	823	c.790T>C	c.(790-792)Tcc>Ccc	p.S264P		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	264	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AGTTTAATGGAAAGTCCTTGG	0.264													G	19732164	A	G	19732164	3	3	681	1	0	0	0	0	1	0	0	0	16346	246	9	3	2341	3	TMPRSS15	21	19732164	Missense_Mutation	SNP	A	TCGA-R8-A6ML-01A-11D-A32B-08		19732164	28397731	22	53365											
APOL3	80833	broad.mit.edu	37	chr22	36537327	36537327	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccagctcctgagcctgcCgcctcagctcctcagcagat	6	8	8	19	1	2	2	2	1	0	1	5	2	5	2	7	0	5	3	7	0	0	0	rs145559179	byFrequency	TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chr22:36537327C>G	ENST00000424878.2	-	4	2678	c.530G>C	c.(529-531)cGg>cCg	p.R177P	APOL3_ENST00000397287.2_Missense_Mutation_p.R177P|APOL3_ENST00000361710.2_Missense_Mutation_p.R177P|APOL3_ENST00000397293.2_Missense_Mutation_p.R306P|APOL3_ENST00000349314.2_Missense_Mutation_p.R377P			O95236	APOL3_HUMAN	apolipoprotein L, 3	377					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						CTGAGCCTGCCGCCTCAGCTC	0.542													G	36537327	C	G	36537327	3	3	681	1	0	0	0	0	1	0	0	0	810	652	23	4	82	4	APOL3	22	36537327	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		36537327	14767239	23	53366											
SMC1A	8243	broad.mit.edu	37	chrX	53432432	53432432	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaatccacaccttgtggCgctggtggcctccaaaggca	9	7	13	12	1	0	0	0	0	0	0	2	1	2	1	4	5	0	2	4	5	2	1			TCGA-R8-A6ML-01A-11D-A32B-08	TCGA-R8-A6ML-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e8f17b0f-b277-44e0-9f28-7accd81f67bd	7af368c2-d9c9-4ca5-a5ac-9d0712d8b9c4	g.chrX:53432432C>A	ENST00000322213.4	-	11	2031	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	SMC1A_ENST00000375340.6_Missense_Mutation_p.R401L	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	635	Flexible hinge.				cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						CACCTTGTGGCGCTGGTGGCC	0.562													A	53432432	C	A	53432432	3	1	681	1	0	0	0	0	1	0	0	0	14875	768	27	4	1857	4	SMC1A	23	53432432	Missense_Mutation	SNP	C	TCGA-R8-A6ML-01A-11D-A32B-08		53432432	101838128	24	53367											
CSF3R	1441	broad.mit.edu	37	chr1	36932096	36932096	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccaaggggctggcctggaaCcagaggttctcataggactt	9	8	13	11	0	1	1	1	0	1	1	2	3	1	3	3	6	1	2	3	6	3	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:36932096C>T	ENST00000373103.1	-	17	3001	c.2454G>A	c.(2452-2454)tgG>tgA	p.W818*	CSF3R_ENST00000373104.1_Intron|CSF3R_ENST00000418048.2_Nonsense_Mutation_p.W791*|CSF3R_ENST00000373106.1_Nonsense_Mutation_p.W791*|CSF3R_ENST00000338937.5_Missense_Mutation_p.G760D|CSF3R_ENST00000487540.2_5'UTR|CSF3R_ENST00000331941.5_Intron|CSF3R_ENST00000361632.4_Nonsense_Mutation_p.W791*|CSF3R_ENST00000440588.2_Nonsense_Mutation_p.W818*	NM_156039.3	NP_724781.1	Q99062	CSF3R_HUMAN	colony stimulating factor 3 receptor (granulocyte)	791					cell adhesion|defense response	extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(9)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)			Filgrastim(DB00099)|Pegfilgrastim(DB00019)	TGGCCTGGAACCAGAGGTTCT	0.657													T	36932096	C	T	36932096	4	4	682	1	0	0	0	0	0	1	0	0	3970	508	18	2	250	2	CSF3R	1	36932096	Nonsense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		36932096	212318525	1	53368											
SETDB1	9869	broad.mit.edu	37	chr1	150916431	150916431	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgatggctatgcttcctAtgtcacacagtcggaactgt	9	13	10	9	1	1	2	1	2	0	0	3	3	2	3	1	2	2	2	1	2	3	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:150916431A>G	ENST00000271640.5	+	8	1101	c.911A>G	c.(910-912)tAt>tGt	p.Y304C	SETDB1_ENST00000368962.2_Missense_Mutation_p.Y304C|SETDB1_ENST00000368963.1_Missense_Mutation_p.M237V|SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_Missense_Mutation_p.Y304C	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	304	Tudor 1.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding	p.Y304C(1)		NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			TATGCTTCCTATGTCACACAG	0.408													G	150916431	A	G	150916431	3	3	682	1	0	0	0	0	1	0	0	0	14231	449	16	3	937	3	SETDB1	1	150916431	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	113984335	150916431	98334190	2	53369											
SH2D2A	9047	broad.mit.edu	37	chr1	156784873	156784873	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcaggggctgccccgtgCtgcaggagccagtgggcctg	5	5	18	13	1	0	0	0	0	0	0	0	1	0	1	4	5	4	4	4	5	0	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:156784873C>T	ENST00000392306.2	-	3	403	c.264G>A	c.(262-264)caG>caA	p.Q88Q	SH2D2A_ENST00000495306.1_5'UTR|SH2D2A_ENST00000368199.3_Silent_p.Q88Q|SH2D2A_ENST00000368198.3_Silent_p.Q70Q	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	88					angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					CTGCCCCGTGCTGCAGGAGCC	0.642													T	156784873	C	T	156784873	2	4	682	1	0	0	0	0	0	0	0	1	14325	796	28	2		2	SH2D2A	1	156784873	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5868442	156784873	92465748	3	53370											
PRELP	5549	broad.mit.edu	37	chr1	203452722	203452722	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gattaacctggacaacaaccGaatccgcaagatagaccaga	17	5	8	11	2	0	3	0	0	0	3	1	6	1	4	4	1	3	1	4	1	6	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:203452722G>A	ENST00000343110.2	+	2	537	c.410G>A	c.(409-411)cGa>cAa	p.R137Q		NM_002725.3|NM_201348.1	NP_002716.1|NP_958505.1	P51888	PRELP_HUMAN	proline/arginine-rich end leucine-rich repeat protein	137					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36			BRCA - Breast invasive adenocarcinoma(75;0.109)			GACAACAACCGAATCCGCAAG	0.552													A	203452722	G	A	203452722	3	1	682	1	0	0	0	0	1	0	0	0	12559	1058	37	1	412	1	PRELP	1	203452722	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	46667849	203452722	45797899	4	53371											
RYR2	6262	broad.mit.edu	37	chr1	237791209	237791209	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgtttgtgttgctccatcGgcagtatgacggcattgggg	6	13	14	8	2	0	1	0	1	0	0	2	1	1	1	1	4	1	6	1	4	1	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr1:237791209G>A	ENST00000366574.2	+	41	6586	c.6269G>A	c.(6268-6270)cGg>cAg	p.R2090Q	RYR2_ENST00000360064.6_Missense_Mutation_p.R2088Q|RYR2_ENST00000542537.1_Missense_Mutation_p.R2074Q	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2090	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.R2088Q(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TTGCTCCATCGGCAGTATGAC	0.557													A	237791209	G	A	237791209	3	1	682	1	0	0	0	0	1	0	0	0	13860	1116	39	1	6431	1	RYR2	1	237791209	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	34338487	237791209	11459412	5	53372											
NLRC4	58484	broad.mit.edu	37	chr2	32476399	32476399	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcatggcaattcgctgcagCagagtggacttgcctttgcc	8	10	12	11	1	0	1	0	0	0	1	1	2	0	2	2	2	5	5	2	2	1	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:32476399C>A	ENST00000404025.2	-	5	1022	c.534G>T	c.(532-534)ctG>ctT	p.L178L	NLRC4_ENST00000360906.5_Silent_p.L178L|NLRC4_ENST00000402280.1_Silent_p.L178L|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	178	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCGCTGCAGCAGAGTGGACT	0.582													A	32476399	C	A	32476399	2	1	682	1	0	0	0	0	0	0	0	1	10545	697	25	4		4	NLRC4	2	32476399	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		32476399	210722974	6	53373											
GLI2	2736	broad.mit.edu	37	chr2	121712960	121712960	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgatgcagagcgggggCgctgccagcgcaccccatct	6	6	14	15	3	1	2	0	1	1	1	1	2	1	2	3	2	5	4	3	2	0	0	rs149502176		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:121712960C>A	ENST00000452319.1	+	5	657	c.597C>A	c.(595-597)ggC>ggA	p.G199G	GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000314490.11_5'UTR|GLI2_ENST00000361492.4_Silent_p.G199G			P10070	GLI2_HUMAN	GLI family zinc finger 2	199					axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				AGAGCGGGGGCGCTGCCAGCG	0.667													A	121712960	C	A	121712960	2	1	682	1	0	0	0	0	0	0	0	1	6494	755	27	4		4	GLI2	2	121712960	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	89236561	121712960	121486413	7	53374											
ITGB6	3694	broad.mit.edu	37	chr2	161052897	161052897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggtttgctggggtatcaCacctttcgccaactccagat	10	11	9	11	1	1	1	1	0	0	1	3	1	2	1	3	3	2	3	3	3	3	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:161052897C>T	ENST00000283249.2	-	3	413	c.176G>A	c.(175-177)tGt>tAt	p.C59Y	ITGB6_ENST00000409872.1_Missense_Mutation_p.C59Y|ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Missense_Mutation_p.C59Y|ITGB6_ENST00000428609.2_Missense_Mutation_p.C17Y	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	59					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						TGGGGTATCACACCTTTCGCC	0.328													T	161052897	C	T	161052897	3	4	682	1	0	0	0	0	1	0	0	0	7957	478	17	2	2242	2	ITGB6	2	161052897	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	39339937	161052897	82146476	8	53375											
LRP2	4036	broad.mit.edu	37	chr2	170093674	170093674	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttttactaatcagcacagTcctgtggctcccatcaattt	9	15	6	11	0	2	0	2	0	0	0	4	0	4	0	2	1	2	3	2	1	3	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:170093674T>C	ENST00000263816.3	-	28	4915	c.4630A>G	c.(4630-4632)Act>Gct	p.T1544A		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1544					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCAGCACAGTCCTGTGGCTC	0.378													C	170093674	T	C	170093674	3	2	682	1	0	0	0	0	1	0	0	0	9026	1667	58	3	9545	3	LRP2	2	170093674	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	9040777	170093674	73105699	9	53376											
NBEAL1	65065	broad.mit.edu	37	chr2	204066361	204066361	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcaaagttgctcttcagtgCtggatactgggataatagca	11	12	11	7	0	2	0	1	0	1	0	2	2	2	2	0	2	5	5	0	2	4	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr2:204066361C>T	ENST00000449802.1	+	49	7580	c.7247C>T	c.(7246-7248)gCt>gTt	p.A2416V		NM_001114132.1	NP_001107604.1	Q6ZS30	NBEL1_HUMAN	neurobeachin-like 1	2416							binding			NS(1)|breast(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|liver(1)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	37						CTCTTCAGTGCTGGATACTGG	0.398													T	204066361	C	T	204066361	3	4	682	1	0	0	0	0	1	0	0	0	10264	797	28	2	7437	2	NBEAL1	2	204066361	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	33972687	204066361	39133012	10	53377											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	682	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5046751	209113112	34086261	11	53378											
TRAIP	10293	broad.mit.edu	37	chr3	49881320	49881320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgttcttccagcgtatcccGcagagtgtcgatgatgacct	7	11	11	12	4	1	3	0	2	1	1	4	4	3	3	3	0	1	3	3	0	1	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:49881320G>A	ENST00000331456.2	-	5	435	c.322C>T	c.(322-324)Cgg>Tgg	p.R108W	TRAIP_ENST00000469027.1_Intron|TRAIP_ENST00000473863.1_5'UTR	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	108					cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		AGCGTATCCCGCAGAGTGTCG	0.562													A	49881320	G	A	49881320	3	1	682	1	0	0	0	0	1	0	0	0	16549	1086	38	1	1131	1	TRAIP	3	49881320	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		49881320	148141110	12	53379											
EPHA3	2042	broad.mit.edu	37	chr3	89457251	89457251	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcaaaacatggggcagatGaaaaaagacttcattttggc	16	9	10	6	0	2	3	2	1	0	2	2	3	2	3	0	3	1	1	0	3	5	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:89457251G>A	ENST00000336596.2	+	9	1957	c.1732G>A	c.(1732-1734)Gaa>Aaa	p.E578K	EPHA3_ENST00000494014.1_Missense_Mutation_p.E578K	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	578						extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		TGGGGCAGATGAAAAAAGACT	0.353										TSP Lung(6;0.00050)			A	89457251	G	A	89457251	3	1	682	1	0	0	0	0	1	0	0	0	5209	1291	45	2	1792	2	EPHA3	3	89457251	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	39575931	89457251	108565179	13	53380											
ABI3BP	25890	broad.mit.edu	37	chr3	100527058	100527058	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtttttggcttaggaggaGcacgtggtgtctgcttggga	6	14	16	5	1	1	0	0	0	1	0	1	3	1	3	0	5	2	4	0	5	1	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:100527058G>A	ENST00000471714.1	-	50	3759	c.3650C>T	c.(3649-3651)gCt>gTt	p.A1217V	ABI3BP_ENST00000284322.5_Missense_Mutation_p.A540V|ABI3BP_ENST00000383691.4_Missense_Mutation_p.A494V			Q7Z7G0	TARSH_HUMAN	ABI family, member 3 (NESH) binding protein	540						extracellular space				central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	50						CTTAGGAGGAGCACGTGGTGT	0.428													A	100527058	G	A	100527058	3	1	682	1	0	0	0	0	1	0	0	0	91	971	34	2	1676	2	ABI3BP	3	100527058	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	11069807	100527058	97495372	14	53381											
IGSF10	285313	broad.mit.edu	37	chr3	151164884	151164884	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgattgtgcctgggttcaCtcacttctcttacagatgtc	7	15	9	10	0	3	2	2	1	1	1	5	2	3	2	1	1	2	1	1	1	1	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:151164884C>T	ENST00000282466.3	-	4	2884	c.2885G>A	c.(2884-2886)aGt>aAt	p.S962N		NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	962					cell differentiation|multicellular organismal development|ossification	extracellular region				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CCTGGGTTCACTCACTTCTCT	0.408													T	151164884	C	T	151164884	3	4	682	1	0	0	0	0	1	0	0	0	7655	565	20	2	5046	2	IGSF10	3	151164884	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	50637826	151164884	46857546	15	53382											
PIK3CA	5290	broad.mit.edu	37	chr3	178916876	178916876	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attttttgatgaaacaagacGactttgtgaccttcggcttt	10	16	8	7	2	0	4	0	3	0	1	1	5	0	4	1	1	1	1	1	1	2	6	rs121913287		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178916876G>A	ENST00000263967.3	+	2	420	c.263G>A	c.(262-264)cGa>cAa	p.R88Q		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	88	PI3K-ABD.		R -> Q (in cancer; may disrupt the interaction between the PI3K-ABD domain and the N-terminal lobe of PI3K/PI4K kinase domain possibly affecting the conformation of the kinase domain).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.R88Q(53)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAAACAAGACGACTTTGTGAC	0.363	R88Q(JHUEM1_ENDOMETRIUM)|R88Q(SKUT1_SOFT_TISSUE)|R88Q(SNGM_ENDOMETRIUM)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916876	G	A	178916876	3	1	682	1	0	0	0	0	1	0	0	0	11990	1058	37	1	265	1	PIK3CA	3	178916876	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	27751992	178916876	19105554	16	53383											
PIK3CA	5290	broad.mit.edu	37	chr3	178922340	178922340	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggagaacccttatgtgacaAtgtgaacactcaaagagtac	16	8	9	8	0	1	4	1	2	0	2	1	5	1	4	1	1	3	1	1	1	6	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:178922340A>G	ENST00000263967.3	+	6	1266	c.1109A>G	c.(1108-1110)aAt>aGt	p.N370S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	370	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTATGTGACAATGTGAACACT	0.333		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178922340	A	G	178922340	3	3	682	1	0	0	0	0	1	0	0	0	11990	101	4	3	1127	3	PIK3CA	3	178922340	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	5464	178922340	19100090	17	53384											
MUC4	4585	broad.mit.edu	37	chr3	195511937	195511937	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagagaggtggcgtgacCtgtggatgctgaggaagtgt	10	8	19	4	1	0	3	0	2	0	1	0	7	0	6	1	5	1	1	1	5	2	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:195511937C>T	ENST00000463781.3	-	2	6973	c.6514G>A	c.(6514-6516)Ggt>Agt	p.G2172S	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.G2172S|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	951					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GTGGCGTGACCTGTGGATGCT	0.577													T	195511937	C	T	195511937	3	4	682	1	0	0	0	0	1	0	0	0	10054	681	24	2		2	MUC4	3	195511937	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	16589597	195511937	2510493	18	53385											
MUC4	4585	broad.mit.edu	37	chr3	195516065	195516065	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcccgctgaggtggttcGtgaccctgaggaggccggtt	4	10	17	10	3	0	3	0	3	0	0	1	4	0	4	3	5	1	3	3	5	0	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr3:195516065G>A	ENST00000463781.3	-	2	2845	c.2386C>T	c.(2386-2388)Cga>Tga	p.R796*	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Nonsense_Mutation_p.R796*|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	801	Ser-rich.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GAGGTGGTTCGTGACCCTGAG	0.602													A	195516065	G	A	195516065	4	1	682	1	0	0	0	0	0	1	0	0	10054	1153	40	1		1	MUC4	3	195516065	Nonsense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	4128	195516065	2506365	19	53386											
SORCS2	57537	broad.mit.edu	37	chr4	7668883	7668883	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagacaaaatactacgtCtcttatcgtcgaaatgaatt	16	11	5	9	3	1	2	0	1	1	1	4	3	1	2	1	0	3	0	1	0	8	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:7668883C>A	ENST00000507866.2	+	8	1213	c.1104C>A	c.(1102-1104)gtC>gtA	p.V368V	SORCS2_ENST00000329016.9_Silent_p.V196V	NM_020777.2	NP_065828.2	Q96PQ0	SORC2_HUMAN	sortilin-related VPS10 domain containing receptor 2	368						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(8)|lung(8)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	42						AATACTACGTCTCTTATCGTC	0.483													A	7668883	C	A	7668883	2	1	682	1	0	0	0	0	0	0	0	1	15025	900	32	4		4	SORCS2	4	7668883	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		7668883	183485393	20	53387											
CPEB2	132864	broad.mit.edu	37	chr4	15055831	15055831	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaagcaagtcctatttTccaccaaaaggtaaggattg	15	9	9	8	0	0	1	0	0	0	1	2	2	2	2	3	2	1	3	3	2	6	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:15055831T>C	ENST00000538197.1	+	8	2451	c.2451T>C	c.(2449-2451)ttT>ttC	p.F817F	CPEB2_ENST00000345451.3_Silent_p.F342F|RP11-665G4.1_ENST00000513384.1_RNA|CPEB2_ENST00000259997.5_Silent_p.F380F|CPEB2_ENST00000541112.1_Silent_p.F809F|CPEB2_ENST00000442003.2_Silent_p.F790F|CPEB2_ENST00000507071.1_Silent_p.F372F|RP11-665G4.1_ENST00000502344.1_RNA|CPEB2_ENST00000382401.3_Silent_p.F345F|CPEB2_ENST00000382395.3_Silent_p.F350F	NM_001177382.1	NP_001170853.1	Q7Z5Q1	CPEB2_HUMAN	cytoplasmic polyadenylation element binding protein 2	372					regulation of translation	cytoplasm	nucleotide binding|RNA binding			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(4)|prostate(1)|skin(3)	14						AGTCCTATTTTCCACCAAAAG	0.343													C	15055831	T	C	15055831	2	2	682	1	0	0	0	0	0	0	0	1	3832	1780	62	3		3	CPEB2	4	15055831	Silent	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	7386948	15055831	176098445	21	53388											
PPBP	5473	broad.mit.edu	37	chr4	74853701	74853701	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgccaagtttctcttagtTtgtcctttggtggaggaagc	6	16	11	8	1	1	0	0	0	1	0	4	2	2	2	2	3	1	2	2	3	3	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:74853701T>G	ENST00000296028.3	-	1	213	c.120A>C	c.(118-120)caA>caC	p.Q40H		NM_002704.3	NP_002695.1	P02775	CXCL7_HUMAN	pro-platelet basic protein (chemokine (C-X-C motif) ligand 7)	40					chemotaxis|defense response to bacterium|immune response|platelet activation|platelet degranulation|positive regulation of cell division	extracellular space|platelet alpha granule lumen	chemokine activity|glucose transmembrane transporter activity|growth factor activity			breast(1)|central_nervous_system(1)|lung(1)|ovary(2)|skin(2)|stomach(1)|urinary_tract(2)	10	Breast(15;0.00136)		all cancers(17;0.00273)|Lung(101;0.196)			TTCTCTTAGTTTGTCCTTTGG	0.527													G	74853701	T	G	74853701	3	3	682	1	0	0	0	0	1	0	0	0	12380	1838	64	5	278	5	PPBP	4	74853701	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	59797870	74853701	116300575	22	53389											
FRAS1	80144	broad.mit.edu	37	chr4	79296998	79296998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtttacaactgtgttcctgGcttttctgtccacacctcta	6	17	6	12	0	2	0	0	0	2	0	4	0	4	0	3	1	2	3	3	1	3	6			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:79296998G>C	ENST00000264895.6	+	26	3697	c.3257G>C	c.(3256-3258)gGc>gCc	p.G1086A	FRAS1_ENST00000325942.6_Missense_Mutation_p.G1086A	NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	1085					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						TGTGTTCCTGGCTTTTCTGTC	0.478													C	79296998	G	C	79296998	3	2	682	1	0	0	0	0	1	0	0	0	6093	1203	42	4	3359	4	FRAS1	4	79296998	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	4443297	79296998	111857278	23	53390											
FHDC1	85462	broad.mit.edu	37	chr4	153864692	153864692	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttaaattcatccttcagAgaagctcgagaagaggtaag	15	10	9	7	1	2	3	2	0	0	3	4	5	3	3	1	1	1	2	1	1	5	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:153864692A>G	ENST00000511601.1	+	2	671	c.483A>G	c.(481-483)agA>agG	p.R161R	FHDC1_ENST00000260008.3_Silent_p.R161R			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	161	FH2.				actin cytoskeleton organization		actin binding		ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					CATCCTTCAGAGAAGCTCGAG	0.428													G	153864692	A	G	153864692	2	3	682	1	0	0	0	0	0	0	0	1	5925	301	11	3		3	FHDC1	4	153864692	Silent	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	74567694	153864692	37289584	24	53391											
SORBS2	8470	broad.mit.edu	37	chr4	186559269	186559269	+	Frame_Shift_Del	DEL	C	C	-																															agttctgaaaagaatttataCcagggctcattttctaaatc																										TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr4:186559269delC	ENST00000393528.3	-	12	1607	c.870delG	c.(868-870)tggfs	p.W290fs	SORBS2_ENST00000355634.5_Intron|SORBS2_ENST00000449407.2_Intron|SORBS2_ENST00000448662.2_Intron|SORBS2_ENST00000319471.9_Intron|SORBS2_ENST00000284776.7_Intron|SORBS2_ENST00000431808.1_Intron|SORBS2_ENST00000437304.2_Intron|SORBS2_ENST00000498125.1_Intron|SORBS2_ENST00000418609.1_Intron	NM_003603.6	NP_003594.3	O94875	SRBS2_HUMAN	sorbin and SH3 domain containing 2	228						actin cytoskeleton|nucleus|perinuclear region of cytoplasm|Z disc	cytoskeletal adaptor activity|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(9)|lung(21)|ovary(2)|prostate(2)|skin(4)|urinary_tract(1)	53		all_cancers(14;4.27e-52)|all_epithelial(14;6.58e-39)|all_lung(41;1.42e-13)|Lung NSC(41;3.73e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.00692)|Hepatocellular(41;0.00826)|Renal(120;0.00994)|Prostate(90;0.0101)|all_hematologic(60;0.0174)|all_neural(102;0.244)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-09)|BRCA - Breast invasive adenocarcinoma(30;0.000232)|GBM - Glioblastoma multiforme(59;0.000385)|STAD - Stomach adenocarcinoma(60;0.00109)|LUSC - Lung squamous cell carcinoma(40;0.0205)		AGAATTTATACCAGGGCTCAT	0.383													-	186559269	C	-	186559269	7	5	682	1	0	1	0	1	0	0	0	0	15022	508	18	0	2763	0	SORBS2	4	186559269	Frame_Shift_Del	DEL	C	TCGA-R8-A6MO-01A-11D-A33T-08	32694577	186559269	4595007	25	53392											
EGFLAM	133584	broad.mit.edu	37	chr5	38464075	38464075	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaaaacatcaacacttGtggagccaagtaacaccagc	16	6	9	10	0	1	0	1	0	0	0	1	2	1	2	2	2	5	1	2	2	5	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:38464075G>T	ENST00000322350.5	+	22	3363	c.3017G>T	c.(3016-3018)tGt>tTt	p.C1006F	EGFLAM_ENST00000354891.3_Missense_Mutation_p.C1014F|EGFLAM_ENST00000514476.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000397202.2_Missense_Mutation_p.C372F|EGFLAM_ENST00000506135.1_Missense_Mutation_p.C149F|EGFLAM_ENST00000397210.3_Missense_Mutation_p.C149F|EGFLAM_ENST00000336740.6_Missense_Mutation_p.C772F|CTD-2263F21.1_ENST00000510469.1_RNA	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	1014	Laminin G-like 3.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					ATCAACACTTGTGGAGCCAAG	0.537													T	38464075	G	T	38464075	3	4	682	1	0	0	0	0	1	0	0	0	5005	1377	48	4	3117	4	EGFLAM	5	38464075	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		38464075	142451185	26	53393											
TIMD4	91937	broad.mit.edu	37	chr5	156378598	156378598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcctccggaagggtgcttgGggttagtgaaaggcacgtgt	7	11	16	7	2	0	1	0	1	0	0	2	2	2	2	2	5	1	3	2	5	3	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:156378598G>A	ENST00000274532.2	-	3	660	c.604C>T	c.(604-606)Cca>Tca	p.P202S	TIMD4_ENST00000407087.3_Missense_Mutation_p.P202S	NM_138379.2	NP_612388.2	Q96H15	TIMD4_HUMAN	T-cell immunoglobulin and mucin domain containing 4	202	Thr-rich.					integral to membrane				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(23)|ovary(2)|skin(2)	37	Renal(175;0.00488)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGGTGCTTGGGGTTAGTGAA	0.537													A	156378598	G	A	156378598	3	1	682	1	0	0	0	0	1	0	0	0	16003	1232	43	2	560	2	TIMD4	5	156378598	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	117914523	156378598	24536662	27	53394											
STC2	8614	broad.mit.edu	37	chr5	172745215	172745215	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccttcacctcctcccCacaggtcagcagcaagttca	8	8	7	18	0	3	0	3	0	0	0	6	0	6	0	6	2	2	3	6	2	1	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:172745215C>A	ENST00000265087.4	-	4	1853	c.544G>T	c.(544-546)Ggg>Tgg	p.G182W	STC2_ENST00000520593.1_5'UTR	NM_003714.2	NP_003705.1	O76061	STC2_HUMAN	stanniocalcin 2	182					cell surface receptor linked signaling pathway|cell-cell signaling	extracellular region	hormone activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(3)	25	Renal(175;0.000159)|Lung NSC(126;0.00229)|all_lung(126;0.004)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.223)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			ACCTCCTCCCCACAGGTCAGC	0.552													A	172745215	C	A	172745215	3	1	682	1	0	0	0	0	1	0	0	0	15372	594	21	4	368	4	STC2	5	172745215	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	16366617	172745215	8170045	28	53395											
CPEB4	80315	broad.mit.edu	37	chr5	173380277	173380277	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggagagatagataaacgggTaagccttatactacattttg	14	12	10	5	1	0	2	0	0	0	2	0	4	0	3	1	2	4	1	1	2	7	8			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr5:173380277T>C	ENST00000519835.1	+	7	2092	c.1889T>C	c.(1888-1890)gTa>gCa	p.V630A	CPEB4_ENST00000522336.1_Splice_Site|CPEB4_ENST00000265085.5_Splice_Site|CPEB4_ENST00000517880.1_Splice_Site|CPEB4_ENST00000520867.1_Splice_Site|CPEB4_ENST00000334035.5_Splice_Site|CPEB4_ENST00000519467.1_Splice_Site			Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	655	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GATAAACGGGTAAGCCTTATA	0.403													C	173380277	T	C	173380277	3	2	682	1	0	0	0	0	1	0	0	0	3834	1652	57	3	1998	3	CPEB4	5	173380277	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	635062	173380277	7534983	29	53396											
MICAL1	64780	broad.mit.edu	37	chr6	109766001	109766001	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagattcaattcctgcacCctgtggaggtcagggattgt	8	12	11	10	0	2	1	2	0	0	1	4	3	4	3	3	3	1	1	3	3	1	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:109766001C>T	ENST00000368952.4	-	24	3329	c.3039G>A	c.(3037-3039)acG>acA	p.T1013T	MICAL1_ENST00000358577.3_Splice_Site_p.T908T|MICAL1_ENST00000358807.3_Splice_Site_p.T994T			Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	994					cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		ATTCCTGCACCCTGTGGAGGT	0.577													T	109766001	C	T	109766001	5	4	682	1	0	0	0	0	0	0	1	0	9644	637	22	2	229	2	MICAL1	6	109766001	Splice_Site	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		109766001	61349066	30	53397											
EPB41L2	2037	broad.mit.edu	37	chr6	131222116	131222116	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagacctgtgggttttgtgCagctctgccaccttctcttc	5	14	9	13	0	2	1	0	0	2	1	4	1	2	1	3	1	3	3	3	1	0	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr6:131222116C>T	ENST00000337057.3	-	7	1315	c.1134G>A	c.(1132-1134)ctG>ctA	p.L378L	EPB41L2_ENST00000528282.1_Silent_p.L378L|EPB41L2_ENST00000445890.2_Silent_p.L378L|EPB41L2_ENST00000527411.1_Silent_p.L378L|EPB41L2_ENST00000525193.1_Silent_p.L378L|EPB41L2_ENST00000529208.1_Silent_p.L378L|EPB41L2_ENST00000525271.1_Silent_p.L378L|EPB41L2_ENST00000392427.3_Silent_p.L378L|EPB41L2_ENST00000368128.2_Silent_p.L378L|EPB41L2_ENST00000530481.1_Silent_p.L378L|EPB41L2_ENST00000530148.1_5'UTR|EPB41L2_ENST00000527659.1_Silent_p.L378L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	378	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GGGTTTTGTGCAGCTCTGCCA	0.473													T	131222116	C	T	131222116	2	4	682	1	0	0	0	0	0	0	0	1	5194	697	25	2		2	EPB41L2	6	131222116	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	21456115	131222116	39892951	31	53398											
SERPINE1	5054	broad.mit.edu	37	chr7	100779027	100779027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccacgtcgcgcaggcgctGcagaaagtgaagatcgaggt	10	6	14	11	5	0	3	0	1	0	2	3	4	1	3	1	2	1	3	1	2	2	0			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:100779027G>A	ENST00000223095.4	+	7	1189	c.1032G>A	c.(1030-1032)ctG>ctA	p.L344L	SERPINE1_ENST00000445463.2_Silent_p.L329L	NM_000602.4	NP_000593.1	P05121	PAI1_HUMAN	serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1	344					angiogenesis|cellular response to chemical stimulus|cellular response to lipopolysaccharide|chronological cell aging|defense response to Gram-negative bacterium|fibrinolysis|negative regulation of apoptosis|negative regulation of cell adhesion mediated by integrin|negative regulation of fibrinolysis|negative regulation of plasminogen activation|negative regulation of smooth muscle cell migration|negative regulation of smooth muscle cell-matrix adhesion|negative regulation of vascular wound healing|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of interleukin-8 production|positive regulation of leukotriene production involved in inflammatory response|positive regulation of monocyte chemotaxis|positive regulation of receptor-mediated endocytosis|regulation of receptor activity	extracellular matrix|extracellular space|plasma membrane|platelet alpha granule lumen	protease binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)	20	Lung NSC(181;0.136)|all_lung(186;0.182)				Atorvastatin(DB01076)|Dimethyl sulfoxide(DB01093)|Drotrecogin alfa(DB00055)|Simvastatin(DB00641)|Tenecteplase(DB00031)|Troglitazone(DB00197)|Urokinase(DB00013)	CGCAGGCGCTGCAGAAAGTGA	0.572													A	100779027	G	A	100779027	2	1	682	1	0	0	0	0	0	0	0	1	14204	1306	46	2		2	SERPINE1	7	100779027	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		100779027	58359636	32	53399											
LRGUK	136332	broad.mit.edu	37	chr7	133886296	133886296	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaataccttggattgactgAggaacctgccaagagtttgg	12	10	12	7	0	0	4	0	2	0	2	0	6	0	6	3	3	3	1	3	3	4	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr7:133886296A>G	ENST00000285928.2	+	15	1880	c.1811A>G	c.(1810-1812)gAg>gGg	p.E604G		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	604							ATP binding|kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						GGATTGACTGAGGAACCTGCC	0.388													G	133886296	A	G	133886296	3	3	682	1	0	0	0	0	1	0	0	0	9013	304	11	3	1869	3	LRGUK	7	133886296	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08	33107269	133886296	25252367	33	53400											
ASAH1	427	broad.mit.edu	37	chr8	17919903	17919903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggttttagttgctcagttAtgacccaggtatcattattt	10	17	8	6	0	2	1	2	1	0	0	2	1	2	1	1	2	1	5	1	2	5	7			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr8:17919903A>G	ENST00000262097.6	-	8	844	c.533T>C	c.(532-534)aTa>aCa	p.I178T	ASAH1_ENST00000381733.4_Missense_Mutation_p.I194T|ASAH1_ENST00000417108.2_Missense_Mutation_p.I88T|ASAH1_ENST00000314146.10_Missense_Mutation_p.I172T|ASAH1_ENST00000520781.1_Missense_Mutation_p.I153T	NM_177924.3	NP_808592.2	Q13510	ASAH1_HUMAN	N-acylsphingosine amidohydrolase (acid ceramidase) 1	178					ceramide metabolic process	lysosome	ceramidase activity			breast(1)|endometrium(2)|large_intestine(4)|lung(2)	9				Colorectal(111;0.0646)|COAD - Colon adenocarcinoma(73;0.228)		TTGCTCAGTTATGACCCAGGT	0.373													G	17919903	A	G	17919903	3	3	682	1	0	0	0	0	1	0	0	0	1011	449	16	3	682	3	ASAH1	8	17919903	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08		17919903	128444119	34	53401											
ABCA2	20	broad.mit.edu	37	chr9	139907686	139907686	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagccgttggcgggagacttGagcacgcaggtggcacccac	8	5	16	12	3	0	2	0	1	0	1	0	4	0	2	2	4	2	4	2	4	0	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr9:139907686G>T	ENST00000265662.5	-	30	4782	c.4635C>A	c.(4633-4635)ctC>ctA	p.L1545L	ABCA2_ENST00000371605.3_Silent_p.L1544L|ABCA2_ENST00000341511.6_Silent_p.L1545L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1544					cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		CGGGAGACTTGAGCACGCAGG	0.701													T	139907686	G	T	139907686	2	4	682	1	0	0	0	0	0	0	0	1	32	1277	45	4		4	ABCA2	9	139907686	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		139907686	1305745	35	53402											
ZMIZ1	57178	broad.mit.edu	37	chr10	81070787	81070789	+	In_Frame_Del	DEL	CTC	CTC	-																															tccattacatcacagtggggCtcctcctcctcctccttccc																										TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr10:81070787_81070789delCTC	ENST00000334512.5	+	24	3514_3516	c.2942_2944delCTC	c.(2941-2946)gctcct>gct	p.P986del	ZMIZ1_ENST00000446377.2_Intron	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	986	Pro-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGTGGGGCTCCTCCTCCTCC	0.635													-	81070789	CTC	-	81070787	7	5	682	1	0	1	0	1	0	0	0	0	17797	797	28	0	3020	0	ZMIZ1	10	81070787	In_Frame_Del	DEL	CTC	TCGA-R8-A6MO-01A-11D-A33T-08		81070787	54463960	36	53403											
OR6Q1	219952	broad.mit.edu	37	chr11	57799202	57799202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcctcttctatggcactcttTtctttatgtatgtccagacc	6	17	6	12	0	4	1	0	0	4	1	5	1	5	1	3	1	0	2	3	1	3	7			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:57799202T>C	ENST00000302622.3	+	1	801	c.778T>C	c.(778-780)Ttc>Ctc	p.F260L	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	260					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				TGGCACTCTTTTCTTTATGTA	0.517													C	57799202	T	C	57799202	3	2	682	1	0	0	0	0	1	0	0	0	11284	1841	64	3	780	3	OR6Q1	11	57799202	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08		57799202	77207314	37	53404											
HTR3A	3359	broad.mit.edu	37	chr11	113857403	113857403	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactcggtcttcctgatcaTcgtttctgacacgctgccgg	5	13	9	14	4	3	2	1	2	2	0	6	2	4	2	2	2	2	2	2	2	1	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr11:113857403T>G	ENST00000504030.2	+	7	1314	c.869T>G	c.(868-870)aTc>aGc	p.I290S	HTR3A_ENST00000535865.1_Missense_Mutation_p.I34S|HTR3A_ENST00000299961.5_Missense_Mutation_p.I275S|HTR3A_ENST00000506841.2_Missense_Mutation_p.I290S|HTR3A_ENST00000375498.2_Missense_Mutation_p.I296S|HTR3A_ENST00000355556.2_Missense_Mutation_p.I296S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	290					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	TTCCTGATCATCGTTTCTGAC	0.592													G	113857403	T	G	113857403	3	3	682	1	0	0	0	0	1	0	0	0	7502	1435	50	5	939	5	HTR3A	11	113857403	Missense_Mutation	SNP	T	TCGA-R8-A6MO-01A-11D-A33T-08	56058201	113857403	21149113	38	53405											
PA2G4	5036	broad.mit.edu	37	chr12	56505011	56505011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacagttctgctcatgcccaAtggccccatgcggataacca	10	9	8	14	1	2	0	1	0	1	0	2	1	2	1	4	2	5	2	4	2	3	3			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:56505011A>G	ENST00000303305.6	+	11	1402	c.983A>G	c.(982-984)aAt>aGt	p.N328S	RP11-603J24.17_ENST00000548595.1_RNA|PA2G4_ENST00000552766.1_Intron	NM_006191.2	NP_006182.2	Q9UQ80	PA2G4_HUMAN	proliferation-associated 2G4, 38kDa	328	Necessary for nucleolar localization.				cell cycle arrest|cell proliferation|negative regulation of transcription, DNA-dependent|regulation of translation|rRNA processing	cytoplasm|nucleolus|ribonucleoprotein complex	DNA binding|RNA binding|sequence-specific DNA binding transcription factor activity|ubiquitin protein ligase binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	12			OV - Ovarian serous cystadenocarcinoma(18;0.0739)			CTCATGCCCAATGGCCCCATG	0.433													G	56505011	A	G	56505011	3	3	682	1	0	0	0	0	1	0	0	0	11437	101	4	3	1025	3	PA2G4	12	56505011	Missense_Mutation	SNP	A	TCGA-R8-A6MO-01A-11D-A33T-08		56505011	77346884	39	53406											
CCDC60	160777	broad.mit.edu	37	chr12	119909928	119909928	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaataaattccagccagcCgaaaagatctcagaaatcca	19	6	6	10	1	1	3	1	0	1	3	4	4	3	3	4	0	2	0	4	0	6	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr12:119909928C>T	ENST00000327554.2	+	3	765	c.300C>T	c.(298-300)gcC>gcT	p.A100A	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	100										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		TCCAGCCAGCCGAAAAGATCT	0.423													T	119909928	C	T	119909928	2	4	682	1	0	0	0	0	0	0	0	1	2859	639	23	1		1	CCDC60	12	119909928	Silent	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	63404917	119909928	13941967	40	53407											
CENPJ	55835	broad.mit.edu	37	chr13	25487066	25487066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccaaaataggaaatccaCgatttaatatgaccccagcc	15	9	5	12	1	0	1	0	1	0	0	2	3	2	2	5	1	1	0	5	1	6	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr13:25487066C>T	ENST00000381884.4	-	2	283	c.98G>A	c.(97-99)cGt>cAt	p.R33H	CENPJ_ENST00000545981.1_Missense_Mutation_p.R33H	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	33					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		AGGAAATCCACGATTTAATAT	0.448													T	25487066	C	T	25487066	3	4	682	1	0	0	0	0	1	0	0	0	3264	536	19	1	3982	1	CENPJ	13	25487066	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		25487066	89682812	41	53408											
RBBP6	5930	broad.mit.edu	37	chr16	24582966	24582966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atttgcctaaaaaaggaacaGgagattccaaaaaaagtaat	21	8	7	5	0	0	1	0	0	0	1	1	3	1	2	2	2	2	1	2	2	8	4			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:24582966G>A	ENST00000319715.4	+	18	5011	c.4579G>A	c.(4579-4581)Gga>Aga	p.G1527R	RBBP6_ENST00000348022.2_Missense_Mutation_p.G1493R|RBBP6_ENST00000381039.3_Missense_Mutation_p.G687R	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1527	Interaction with p53 (By similarity).				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		AAAAGGAACAGGAGATTCCAA	0.373													A	24582966	G	A	24582966	3	1	682	1	0	0	0	0	1	0	0	0	13191	1001	35	2	4703	2	RBBP6	16	24582966	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		24582966	65771787	42	53409											
IRX5	10265	broad.mit.edu	37	chr16	54967008	54967008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagctgagcagaaggcGgcttcgggctgcgaacggct	8	5	19	9	4	0	2	0	1	0	1	1	5	0	4	0	6	4	5	0	6	2	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967008G>A	ENST00000394636.4	+	3	1012	c.675G>A	c.(673-675)gcG>gcA	p.A225A	IRX5_ENST00000320990.5_Silent_p.A224A|IRX5_ENST00000558597.1_Silent_p.A159A|IRX5_ENST00000560154.1_Intron			P78411	IRX5_HUMAN	iroquois homeobox 5	225					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						AGCAGAAGGCGGCTTCGGGCT	0.706													A	54967008	G	A	54967008	2	1	682	1	0	0	0	0	0	0	0	1	7905	1103	39	1		1	IRX5	16	54967008	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	30384042	54967008	35387745	43	53410											
IRX5	10265	broad.mit.edu	37	chr16	54967130	54967131	+	Frame_Shift_Ins	INS	-	-	C																															cgcctcgacgcgctgcagggINSccccccccgcaccggcgggc																										TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:54967130_54967131insC	ENST00000394636.4	+	3	1134_1135	c.797_798insC	c.(796-801)ggccccfs	p.GP266fs	IRX5_ENST00000560154.1_Intron|IRX5_ENST00000320990.5_Frame_Shift_Ins_p.GP265fs|IRX5_ENST00000558597.1_Frame_Shift_Ins_p.GP200fs			P78411	IRX5_HUMAN	iroquois homeobox 5	266					response to stimulus|visual perception	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|vitamin D binding			kidney(3)|large_intestine(6)|lung(4)|prostate(1)	14						GCGCTGCAgggccccccccgca	0.792													C	54967131	-	C	54967130	7	5	682	1	0	1	1	0	0	0	0	0	7905	1203	42	0	807	0	IRX5	16	54967130	Frame_Shift_Ins	INS	-	TCGA-R8-A6MO-01A-11D-A33T-08	122	54967130	35387623	44	53411											
ZFPM1	161882	broad.mit.edu	37	chr16	88600445	88600445	+	Frame_Shift_Del	DEL	C	C	-																															gcctgcaacatccgcttcagCcgccacgagacctacaccgt																										TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr16:88600445delC	ENST00000319555.3	+	10	2401	c.2079delC	c.(2077-2079)agcfs	p.S693fs		NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	693					blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		TCCGCTTCAGCCGCCACGAGA	0.761													-	88600445	C	-	88600445	7	5	682	1	0	1	0	1	0	0	0	0	17758	738	26	0	2117	0	ZFPM1	16	88600445	Frame_Shift_Del	DEL	C	TCGA-R8-A6MO-01A-11D-A33T-08	33633315	88600445	1754308	45	53412											
KCNJ12	3768	broad.mit.edu	37	chr17	21319252	21319252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgttcagccacaacGccgtggtggccctgcgtgac	5	8	13	15	4	1	1	1	1	0	0	1	1	1	1	3	2	4	3	3	2	1	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr17:21319252G>A	ENST00000583088.1	+	3	1493	c.598G>A	c.(598-600)Gcc>Acc	p.A200T	KCNJ12_ENST00000331718.5_Missense_Mutation_p.A200T	NM_021012.4	NP_066292.2			potassium inwardly-rectifying channel, subfamily J, member 12											NS(1)|breast(4)|endometrium(4)|kidney(1)|large_intestine(5)|lung(39)|ovary(5)|skin(8)|stomach(3)	70				Colorectal(15;0.0183)|COAD - Colon adenocarcinoma(3;0.0732)		CAGCCACAACGCCGTGGTGGC	0.612										Prostate(3;0.18)			A	21319252	G	A	21319252	3	1	682	1	0	0	0	0	1	0	0	0	8104	1087	38	1	600	1	KCNJ12	17	21319252	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		21319252	59875958	46	53413											
ARRDC5	645432	broad.mit.edu	37	chr19	4896810	4896810	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaagacatggccaaatttgCtggtgaaggtagaaggaagc	15	7	14	5	0	0	4	0	1	0	3	0	5	0	5	1	4	2	2	1	4	6	2			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:4896810C>T	ENST00000381781.2	-	2	373	c.374G>A	c.(373-375)aGc>aAc	p.S125N		NM_001080523.1	NP_001073992.1	A6NEK1	ARRD5_HUMAN	arrestin domain containing 5	125					signal transduction					endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0257)		GCCAAATTTGCTGGTGAAGGT	0.448													T	4896810	C	T	4896810	3	4	682	1	0	0	0	0	1	0	0	0	991	797	28	2	662	2	ARRDC5	19	4896810	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		4896810	54232173	47	53414											
CDC37	11140	broad.mit.edu	37	chr19	10505756	10505756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtccacctttaggctcttggCcagctccaggataaattgca	9	11	9	12	0	1	0	0	0	1	0	3	1	3	1	4	3	2	3	4	3	3	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:10505756C>T	ENST00000222005.2	-	5	720	c.667G>A	c.(667-669)Gcc>Acc	p.A223T		NM_007065.3	NP_008996.1	Q16543	CDC37_HUMAN	cell division cycle 37	223					protein targeting|regulation of cyclin-dependent protein kinase activity|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway		unfolded protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	16			OV - Ovarian serous cystadenocarcinoma(20;4.65e-10)|Epithelial(33;6.48e-07)|all cancers(31;2.31e-06)	GBM - Glioblastoma multiforme(1328;0.0318)		AGGCTCTTGGCCAGCTCCAGG	0.592													T	10505756	C	T	10505756	3	4	682	1	0	0	0	0	1	0	0	0	3098	739	26	2	485	2	CDC37	19	10505756	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	5608946	10505756	48623227	48	53415											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	682	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	32286001	42791757	16337226	49	53416											
TRMT6	51605	broad.mit.edu	37	chr20	5927167	5927167	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtagaaccactgtttttcGaaagttacttttctagggaa	12	14	9	6	1	1	1	0	0	1	1	2	3	1	2	1	2	2	3	1	2	6	7			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr20:5927167G>A	ENST00000203001.2	-	2	271	c.141C>T	c.(139-141)ttC>ttT	p.F47F	TRMT6_ENST00000453074.2_5'UTR|TRMT6_ENST00000473131.1_5'UTR	NM_015939.3	NP_057023.2	Q9UJA5	TRM6_HUMAN	tRNA methyltransferase 6 homolog (S. cerevisiae)	47					regulation of translational initiation|tRNA processing	nucleus	protein binding|translation initiation factor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	15						ACTGTTTTTCGAAAGTTACTT	0.373													A	5927167	G	A	5927167	2	1	682	1	0	0	0	0	0	0	0	1	16669	1049	37	1		1	TRMT6	20	5927167	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		5927167	57098353	50	53417											
SAMSN1	64092	broad.mit.edu	37	chr21	15882705	15882705	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tctggcacggccacagaatgGtcctgaataggggccatcgt	9	8	13	11	2	1	2	0	1	1	1	3	2	2	2	3	5	0	1	3	5	3	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr21:15882705G>A	ENST00000285670.2	-	6	865	c.691C>T	c.(691-693)Cca>Tca	p.P231S	SAMSN1_ENST00000400564.1_Intron|SAMSN1_ENST00000400566.1_Missense_Mutation_p.P163S	NM_001256370.1	NP_001243299.1	Q9NSI8	SAMN1_HUMAN	SAM domain, SH3 domain and nuclear localization signals 1	163					negative regulation of adaptive immune response|negative regulation of B cell activation|negative regulation of peptidyl-tyrosine phosphorylation	cytoplasm|nucleus|ruffle	phosphotyrosine binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	24				Epithelial(23;0.000155)|COAD - Colon adenocarcinoma(22;0.00118)|Colorectal(24;0.00961)|Lung(58;0.164)		CCACAGAATGGTCCTGAATAG	0.502													A	15882705	G	A	15882705	3	1	682	1	0	0	0	0	1	0	0	0	13921	1261	44	2	650	2	SAMSN1	21	15882705	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		15882705	32247190	51	53418											
TSSK2	23617	broad.mit.edu	37	chr22	19119046	19119046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctgtcaagatcatcgaccGcaagaaaacacctactgact	14	7	8	12	2	2	3	2	1	0	2	3	4	2	3	2	1	2	2	2	1	5	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:19119046G>A	ENST00000399635.2	+	1	726	c.134G>A	c.(133-135)cGc>cAc	p.R45H	DGCR14_ENST00000252137.6_3'UTR	NM_053006.4	NP_443732.3	Q96PF2	TSSK2_HUMAN	testis-specific serine kinase 2	45	Protein kinase.				cell differentiation|multicellular organismal development|spermatogenesis	cytoplasm	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			endometrium(2)|large_intestine(2)|lung(2)|prostate(4)|stomach(1)	11	Colorectal(54;0.0993)					ATCATCGACCGCAAGAAAACA	0.488													A	19119046	G	A	19119046	3	1	682	1	0	0	0	0	1	0	0	0	16770	1087	38	1	136	1	TSSK2	22	19119046	Missense_Mutation	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08		19119046	32185520	52	53419											
MYO18B	84700	broad.mit.edu	37	chr22	26239776	26239776	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgggatgggaccctgtgCggtacgacctcacgggctgg	6	8	17	10	3	1	0	1	0	0	0	1	3	1	2	2	5	2	3	2	5	1	2	rs34356798		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chr22:26239776C>T	ENST00000335473.7	+	18	3533	c.3283C>T	c.(3283-3285)Cgg>Tgg	p.R1095W	MYO18B_ENST00000407587.2_Missense_Mutation_p.R1096W|MYO18B_ENST00000536101.1_Missense_Mutation_p.R1095W	NM_032608.5	NP_115997.5	Q8IUG5	MY18B_HUMAN	myosin XVIIIB	1095	Myosin head-like.		R -> L (in a lung adenocarcinoma sample; somatic mutation).			nucleus|sarcomere|unconventional myosin complex	actin binding|ATP binding|motor activity			NS(2)|breast(6)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(27)|liver(2)|lung(60)|ovary(7)|prostate(8)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	146						GGACCCTGTGCGGTACGACCT	0.612													T	26239776	C	T	26239776	3	4	682	1	0	0	0	0	1	0	0	0	10142	759	27	1	3349	1	MYO18B	22	26239776	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	7120730	26239776	25064790	53	53420											
CHRDL1	91851	broad.mit.edu	37	chrX	109931822	109931822	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcctccaaccaacgcacCttttgcttttttacctggac	8	12	7	14	1	0	0	0	0	0	0	1	1	1	1	5	2	4	2	5	2	3	5			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:109931822C>A	ENST00000218054.4	-	9	1181	c.985G>T	c.(985-987)Gaa>Taa	p.E329*	CHRDL1_ENST00000482160.1_Splice_Site_p.E250*|CHRDL1_ENST00000394797.4_Splice_Site_p.E329*|CHRDL1_ENST00000372045.1_Splice_Site_p.E323*|CHRDL1_ENST00000434224.1_Splice_Site_p.E250*|CHRDL1_ENST00000444321.2_Splice_Site_p.E329*|CHRDL1_ENST00000372042.1_Splice_Site_p.E330*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	323					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						ACCAACGCACCTTTTGCTTTT	0.413													A	109931822	C	A	109931822	5	1	682	1	0	0	0	0	0	0	1	0	3403	695	24	4	404	4	CHRDL1	23	109931822	Splice_Site	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08		109931822	45338738	54	53421											
MAGEA6	4105	broad.mit.edu	37	chrX	151870087	151870087	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaaactacctggagtaccgGcaggtccccggcagtgatcc	10	6	12	13	2	0	1	0	1	0	0	2	3	2	2	5	4	3	3	5	4	4	2	rs79585035		TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:151870087G>T	ENST00000329342.5	+	3	1002	c.777G>T	c.(775-777)cgG>cgT	p.R259R		NM_005363.2	NP_005354.1	P43360	MAGA6_HUMAN	melanoma antigen family A, 6	259	MAGE.						protein binding			breast(1)|endometrium(3)|large_intestine(3)|lung(16)|prostate(3)|skin(1)|urinary_tract(1)	28	Acute lymphoblastic leukemia(192;6.56e-05)					TGGAGTACCGGCAGGTCCCCG	0.522													T	151870087	G	T	151870087	2	4	682	1	0	0	0	0	0	0	0	1	9243	1190	42	4		4	MAGEA6	23	151870087	Silent	SNP	G	TCGA-R8-A6MO-01A-11D-A33T-08	41938265	151870087	3400473	55	53422											
PNCK	139728	broad.mit.edu	37	chrX	152938703	152938703	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acggacgcctcccagcgaggCcaccgcatacacgcctccac	9	3	9	20	5	0	0	0	0	0	0	2	2	2	1	6	2	2	1	6	2	1	1			TCGA-R8-A6MO-01A-11D-A33T-08	TCGA-R8-A6MO-10C-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b826e5b4-3335-4b3c-a545-dd13a17acb2b	17ee5ee3-a2a0-4756-84ce-f1190b597115	g.chrX:152938703C>A	ENST00000370145.4	-	1	40	c.23G>T	c.(22-24)gGc>gTc	p.G8V	PNCK_ENST00000475172.1_Intron|PNCK_ENST00000370150.1_Intron|PNCK_ENST00000393831.2_Intron|PNCK_ENST00000340888.3_Intron|PNCK_ENST00000447676.2_Intron|PNCK_ENST00000370142.1_Intron	NM_001135740.1	NP_001129212.1	Q6P2M8	KCC1B_HUMAN	pregnancy up-regulated nonubiquitous CaM kinase	0						cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			breast(2)|lung(3)|skin(1)	6	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCAGCGAGGCCACCGCATAC	0.716													A	152938703	C	A	152938703	3	1	682	1	0	0	0	0	1	0	0	0	12222	739	26	4	1103	4	PNCK	23	152938703	Missense_Mutation	SNP	C	TCGA-R8-A6MO-01A-11D-A33T-08	1068616	152938703	2331857	56	53423											
ADIPOR1	51094	broad.mit.edu	37	chr1	202915646	202915646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcccgaaaggagggcatGggaggtctatgaccatgtag	12	6	15	8	1	1	1	0	1	1	0	1	4	1	3	2	4	1	2	2	4	4	2			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr1:202915646G>A	ENST00000340990.5	-	4	649	c.351C>T	c.(349-351)ccC>ccT	p.P117P	ADIPOR1_ENST00000436244.1_Silent_p.P117P|ADIPOR1_ENST00000367254.3_Silent_p.P117P	NM_015999.4	NP_057083.2	Q96A54	ADR1_HUMAN	adiponectin receptor 1	117					fatty acid oxidation|hormone-mediated signaling pathway	integral to membrane|plasma membrane	hormone binding|protein kinase binding|receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(75;0.141)			AGGAGGGCATGGGAGGTCTAT	0.512													A	202915646	G	A	202915646	2	1	683	1	0	0	0	0	0	0	0	1	318	1335	47	2		2	ADIPOR1	1	202915646	Silent	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		202915646	46334975	1	53424											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	683	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08		209113112	34086261	2	53425											
FOXQ1	94234	broad.mit.edu	37	chr6	1313791	1313791	+	Frame_Shift_Del	DEL	C	C	-																															cgcaagcccttccgcagccgCcgcctcagggacacggcccc																										TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr6:1313791delC	ENST00000296839.2	+	1	1117	c.852delC	c.(850-852)cgcfs	p.R285fs		NM_033260.3	NP_150285.3	Q9C009	FOXQ1_HUMAN	forkhead box Q1	285	Pro-rich.				DNA fragmentation involved in apoptotic nuclear change|embryo development|hair follicle morphogenesis|pattern specification process|positive regulation of caspase activity|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	caspase regulator activity|DNA bending activity|double-stranded DNA binding|estrogen receptor binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|ubiquitin conjugating enzyme binding			lung(1)|urinary_tract(1)	2	Ovarian(93;0.0733)	Breast(5;0.052)|all_lung(73;0.0713)|all_hematologic(90;0.0895)		OV - Ovarian serous cystadenocarcinoma(45;0.0954)|BRCA - Breast invasive adenocarcinoma(62;0.18)		TCCGCAGCCGCCGCCTCAGGG	0.776													-	1313791	C	-	1313791	7	5	683	1	0	1	0	1	0	0	0	0	6081	726	26	0	854	0	FOXQ1	6	1313791	Frame_Shift_Del	DEL	C	TCGA-R8-A6YH-01A-21D-A32B-08		1313791	169801276	3	53426											
TTBK1	84630	broad.mit.edu	37	chr6	43223344	43223344	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctacatgctggtggagtttGcagtgggccagctgccctgg	5	11	15	10	0	1	0	0	0	1	0	1	1	1	1	2	4	5	4	2	4	1	2			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr6:43223344G>T	ENST00000259750.4	+	8	780	c.697G>T	c.(697-699)Gca>Tca	p.A233S	TTBK1_ENST00000304139.5_Missense_Mutation_p.A182S	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	233	Protein kinase.					cell junction|cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			GGTGGAGTTTGCAGTGGGCCA	0.632													T	43223344	G	T	43223344	3	4	683	1	0	0	0	0	1	0	0	0	16778	1319	46	4	723	4	TTBK1	6	43223344	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08	41909553	43223344	127891723	4	53427											
SEMA4D	10507	broad.mit.edu	37	chr9	91994297	91994297	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggacgtgcttggcgaccacTtggaagaccgttttgttctt	7	13	12	9	3	1	1	0	0	1	1	1	4	1	3	2	3	1	3	2	3	1	6			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr9:91994297T>C	ENST00000450295.1	-	16	2687	c.1911A>G	c.(1909-1911)caA>caG	p.Q637Q	SEMA4D_ENST00000339861.4_Intron|SEMA4D_ENST00000343780.4_Intron|SEMA4D_ENST00000438547.2_Silent_p.Q637Q|SEMA4D_ENST00000420987.1_Intron|SEMA4D_ENST00000422704.2_Silent_p.Q637Q|SEMA4D_ENST00000455551.2_Intron|SEMA4D_ENST00000356444.2_Silent_p.Q637Q			Q92854	SEM4D_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4D	637					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						TGGCGACCACTTGGAAGACCG	0.517													C	91994297	T	C	91994297	2	2	683	1	0	0	0	0	0	0	0	1	14127	1606	56	3		3	SEMA4D	9	91994297	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		91994297	49219134	5	53428											
MOAP1	64112	broad.mit.edu	37	chr14	93649977	93649977	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggctctctagcaatcgcCttctcttctctacatctggc	7	13	7	14	1	4	0	0	0	4	0	8	1	4	0	1	2	2	2	1	2	4	4			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr14:93649977C>G	ENST00000556883.1	-	2	1095	c.611G>C	c.(610-612)aGg>aCg	p.R204T	MOAP1_ENST00000298894.4_Missense_Mutation_p.R204T			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	204	RASSF1-binding.				activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		tagcaatcgccttctcttctc	0.463													G	93649977	C	G	93649977	3	3	683	1	0	0	0	0	1	0	0	0	9756	681	24	4	448	4	MOAP1	14	93649977	Missense_Mutation	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08		93649977	13699563	6	53429											
ZNF710	374655	broad.mit.edu	37	chr15	90611149	90611149	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcgaggctgacacggcgggTtcgaccgtggaacgccacaa	9	6	14	12	6	0	1	0	1	0	0	2	4	0	2	2	4	1	2	2	4	2	2			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr15:90611149T>G	ENST00000268154.4	+	2	1031	c.780T>G	c.(778-780)ggT>ggG	p.G260G		NM_198526.2	NP_940928.2	Q8N1W2	ZN710_HUMAN	zinc finger protein 710	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(1)|ovary(2)|prostate(1)|stomach(1)|urinary_tract(3)	19	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.00769)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.129)			ACACGGCGGGTTCGACCGTGG	0.652													G	90611149	T	G	90611149	2	3	683	1	0	0	0	0	0	0	0	1	18216	1712	60	5		5	ZNF710	15	90611149	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		90611149	11920243	7	53430											
CHTF18	63922	broad.mit.edu	37	chr16	838678	838678	+	Frame_Shift_Del	DEL	G	G	-																															gagcgggagctcgggctcgcGgacggtatggaggactacga																										TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr16:838678delG	ENST00000317063.6	+	2	585	c.585delG	c.(583-585)gcgfs	p.A195fs	CHTF18_ENST00000455171.2_5'UTR|CHTF18_ENST00000262315.9_5'UTR			Q8WVB6	CTF18_HUMAN	CTF18, chromosome transmission fidelity factor 18 homolog (S. cerevisiae)	0					cell cycle|DNA replication	nucleus	ATP binding|DNA binding|nucleoside-triphosphatase activity			endometrium(1)|kidney(3)|liver(2)|lung(4)|prostate(1)	11		Hepatocellular(780;0.00335)				TCGGGCTCGCGGACGGTATGG	0.721													-	838678	G	-	838678	7	5	683	1	0	1	0	1	0	0	0	0	3444	1131	39	0		0	CHTF18	16	838678	Frame_Shift_Del	DEL	G	TCGA-R8-A6YH-01A-21D-A32B-08		838678	89516075	8	53431											
PSMB6	5694	broad.mit.edu	37	chr17	4699584	4699584	+	Frame_Shift_Del	DEL	C	C	-																															ctgggaaagccgagaagtttCcactggggtgaggaaggaat																										TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:4699584delC	ENST00000270586.3	+	1	146	c.95delC	c.(94-96)tccfs	p.S32fs		NM_001270481.1|NM_002798.2	NP_001257410.1|NP_002789.1	P28072	PSB6_HUMAN	proteasome (prosome, macropain) subunit, beta type, 6	32					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			endometrium(3)|large_intestine(3)|lung(2)|ovary(2)|prostate(1)	11						CGAGAAGTTTCCACTGGGGTG	0.607													-	4699584	C	-	4699584	7	5	683	1	0	1	0	1	0	0	0	0	12766	855	30	0	97	0	PSMB6	17	4699584	Frame_Shift_Del	DEL	C	TCGA-R8-A6YH-01A-21D-A32B-08		4699584	76495626	9	53432											
TP53	7157	broad.mit.edu	37	chr17	7577115	7577115	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcccaggacaggcacAaacacgcacctcaaagctgt	12	6	8	15	1	2	0	1	0	1	0	4	1	3	1	2	2	2	3	2	2	2	0			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:7577115A>G	ENST00000420246.2	-	8	955	c.823T>C	c.(823-825)Tgt>Cgt	p.C275R	TP53_ENST00000455263.2_Missense_Mutation_p.C275R|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.C275R|TP53_ENST00000445888.2_Missense_Mutation_p.C275R|TP53_ENST00000269305.4_Missense_Mutation_p.C275R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 LFS; 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.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGACAGGCACAAACACGCACC	0.552		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)			G	7577115	A	G	7577115	3	3	683	1	0	0	0	0	1	0	0	0	16482	130	5	3	463	3	TP53	17	7577115	Missense_Mutation	SNP	A	TCGA-R8-A6YH-01A-21D-A32B-08	2877531	7577115	73618095	10	53433											
DNAH17	8632	broad.mit.edu	37	chr17	76533486	76533486	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaagccgcgatctgagccCacctccagggtcgggttgaa	9	6	14	12	3	1	2	0	2	1	0	3	4	2	3	4	3	2	1	4	3	2	1			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr17:76533486C>T	ENST00000389840.5	-	19	2878	c.2754G>A	c.(2752-2754)gtG>gtA	p.V918V	DNAH17_ENST00000585328.1_Silent_p.V915V					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GATCTGAGCCCACCTCCAGGG	0.602													T	76533486	C	T	76533486	2	4	683	1	0	0	0	0	0	0	0	1	4640	581	21	2		2	DNAH17	17	76533486	Silent	SNP	C	TCGA-R8-A6YH-01A-21D-A32B-08	68956371	76533486	4661724	11	53434											
ROCK1	6093	broad.mit.edu	37	chr18	18550345	18550345	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttatctgtaatctcttgTctatttcttgaagcagcttt	7	21	5	8	0	5	1	0	1	5	0	6	1	5	1	0	0	2	3	0	0	4	8			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr18:18550345T>C	ENST00000399799.2	-	23	3724	c.2784A>G	c.(2782-2784)agA>agG	p.R928R		NM_005406.2	NP_005397.1	Q13464	ROCK1_HUMAN	Rho-associated, coiled-coil containing protein kinase 1		Glu-rich.				actin cytoskeleton organization|axon guidance|cellular component disassembly involved in apoptosis|cytokinesis|leukocyte tethering or rolling|membrane to membrane docking|Rho protein signal transduction	centriole|cytosol|Golgi membrane	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			NS(1)|breast(4)|central_nervous_system(1)|large_intestine(8)|lung(2)	16	Melanoma(1;0.165)					TAATCTCTTGTCTATTTCTTG	0.368													C	18550345	T	C	18550345	2	2	683	1	0	0	0	0	0	0	0	1	13608	1664	58	3		3	ROCK1	18	18550345	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		18550345	59526903	12	53435											
FBXO15	201456	broad.mit.edu	37	chr18	71740801	71740801	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatccacaccagctccacGtgcactcttccttccgcatc	7	10	5	19	2	1	1	0	1	1	0	6	1	5	1	5	0	2	3	5	0	0	2			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr18:71740801G>A	ENST00000269500.5	-	10	1535	c.1200C>T	c.(1198-1200)caC>caT	p.H400H	FBXO15_ENST00000419743.2_Silent_p.H476H|FBXO15_ENST00000580806.1_5'UTR	NM_152676.2	NP_689889.1	Q8NCQ5	FBX15_HUMAN	F-box protein 15	400										autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)	27		Esophageal squamous(42;0.103)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.143)		CCAGCTCCACGTGCACTCTTC	0.502													A	71740801	G	A	71740801	2	1	683	1	0	0	0	0	0	0	0	1	5777	1136	40	1		1	FBXO15	18	71740801	Silent	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08	53190456	71740801	6336447	13	53436											
ZNF581	51545	broad.mit.edu	37	chr19	56156055	56156055	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaccttcctcctccatcGgatctccccaggcttcatct	5	12	6	18	1	3	0	1	0	2	0	8	2	6	2	6	3	0	1	6	3	0	2			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr19:56156055G>A	ENST00000587252.1	+	2	391	c.118G>A	c.(118-120)Gga>Aga	p.G40R	ZNF581_ENST00000270451.5_Missense_Mutation_p.G40R|ZNF581_ENST00000588537.1_Missense_Mutation_p.G40R			Q9P0T4	ZN581_HUMAN	zinc finger protein 581	40					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(1)|lung(1)|ovary(1)	3		Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		CTCCTCCATCGGATCTCCCCA	0.612													A	56156055	G	A	56156055	3	1	683	1	0	0	0	0	1	0	0	0	18114	1117	39	1	120	1	ZNF581	19	56156055	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		56156055	2972928	14	53437											
CTSA	5476	broad.mit.edu	37	chr20	44523724	44523724	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcaacaacccgtacgtgcGgaaggccctcaacatcccgg	10	5	9	17	4	2	0	2	0	0	0	3	1	3	1	4	3	5	1	4	3	5	1			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr20:44523724G>A	ENST00000372484.3	+	11	1376	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	CTSA_ENST00000191018.5_Missense_Mutation_p.R347Q|CTSA_ENST00000354880.5_Missense_Mutation_p.R348Q|CTSA_ENST00000372459.2_Missense_Mutation_p.R347Q	NM_000308.2|NM_001127695.1	NP_000299.2|NP_001121167.1	P10619	PPGB_HUMAN	cathepsin A	347					intracellular protein transport|proteolysis	endoplasmic reticulum|lysosome|nucleus	enzyme activator activity|protein binding|serine-type carboxypeptidase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				CCGTACGTGCGGAAGGCCCTC	0.612													A	44523724	G	A	44523724	3	1	683	1	0	0	0	0	1	0	0	0	4062	1116	39	1	1136	1	CTSA	20	44523724	Missense_Mutation	SNP	G	TCGA-R8-A6YH-01A-21D-A32B-08		44523724	18501796	15	53438											
SYCP2	10388	broad.mit.edu	37	chr20	58467639	58467639	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccttgattcaatgtgtcTcctgacgaagtacttgctct	8	15	7	11	1	4	2	2	2	2	0	5	3	4	2	2	0	2	2	2	0	3	4			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr20:58467639T>C	ENST00000357552.3	-	23	2136	c.1911A>G	c.(1909-1911)ggA>ggG	p.G637G	SYCP2_ENST00000371001.2_Silent_p.G637G			Q9BX26	SYCP2_HUMAN	synaptonemal complex protein 2	637					cell division|meiotic prophase I|synaptonemal complex assembly		DNA binding			NS(4)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(14)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_lung(29;0.00344)		BRCA - Breast invasive adenocarcinoma(7;1.19e-09)			TCAATGTGTCTCCTGACGAAG	0.313													C	58467639	T	C	58467639	2	2	683	1	0	0	0	0	0	0	0	1	15529	1538	54	3		3	SYCP2	20	58467639	Silent	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08	13943915	58467639	4557881	16	53439											
KRTAP13-1	140258	broad.mit.edu	37	chr21	31768408	31768408	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacatctcccatcaacatgTcctacaactgctgctctgga	10	11	5	15	0	4	0	2	0	2	0	6	1	5	1	2	1	5	2	2	1	3	1			TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chr21:31768408T>C	ENST00000355459.2	+	1	17	c.4T>C	c.(4-6)Tcc>Ccc	p.S2P		NM_181599.2	NP_853630.2	Q8IUC0	KR131_HUMAN	keratin associated protein 13-1	2						intermediate filament				endometrium(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CATCAACATGTCCTACAACTG	0.522													C	31768408	T	C	31768408	3	2	683	1	0	0	0	0	1	0	0	0	8580	1667	58	3	6	3	KRTAP13-1	21	31768408	Missense_Mutation	SNP	T	TCGA-R8-A6YH-01A-21D-A32B-08		31768408	16361487	17	53440											
ATRX	546	broad.mit.edu	37	chrX	76920179	76920180	+	Frame_Shift_Ins	INS	-	-	C																															tgttttccagttctttttttINScccttcttctggctcatcat																										TCGA-R8-A6YH-01A-21D-A32B-08	TCGA-R8-A6YH-10B-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	869ec76d-1e6f-40c1-9bd6-9d26bfd543ad	34cd7573-262b-451f-a866-4540450147b3	g.chrX:76920179_76920180insC	ENST00000373344.5	-	11	4111_4112	c.3897_3898insG	c.(3895-3900)gggaaafs	p.K1300fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1262fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1300					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)	GTTCTTTTTTTCCCTTCTTCTG	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76920180	-	C	76920179	7	5	683	1	0	1	1	0	0	0	0	0	1213	1792	62	0	3680	0	ATRX	23	76920179	Frame_Shift_Ins	INS	-	TCGA-R8-A6YH-01A-21D-A32B-08		76920179	78350381	18	53441											
MAGI3	260425	broad.mit.edu	37	chr1	113933961	113933962	+	Frame_Shift_Del	DEL	TG	TG	-																															gagcccatccgtctcaagacTgtgaaaccaggtacgccggc																										TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:113933961_113933962delTG	ENST00000369615.1	+	1	368_369	c.306_307delTG	c.(304-309)actgtgfs	p.V103fs	MAGI3_ENST00000486456.1_3'UTR|MAGI3_ENST00000307546.9_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369617.4_Frame_Shift_Del_p.V103fs|MAGI3_ENST00000369611.4_Frame_Shift_Del_p.V103fs	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	103	Interaction with ADRB1 and TGFA (By similarity).|PDZ 1.				apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTCTCAAGACTGTGAAACCAGG	0.663													-	113933962	TG	-	113933961	7	5	684	1	0	1	0	1	0	0	0	0	9267	1567	55	0	308	0	MAGI3	1	113933961	Frame_Shift_Del	DEL	TG	TCGA-R8-A73M-01A-11D-A32B-08		113933961	135316660	1	53442											
F5	2153	broad.mit.edu	37	chr1	169512035	169512035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatatctgtgtttgaagaaaCgaattcagtgccattctcca	12	14	7	8	1	3	2	1	1	2	1	4	3	3	2	2	0	2	1	2	0	5	5			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:169512035C>T	ENST00000367796.3	-	13	2509	c.2308G>A	c.(2308-2310)Gtt>Att	p.V770I	F5_ENST00000367797.3_Missense_Mutation_p.V765I			P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	765	B.				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity			NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				Drotrecogin alfa(DB00055)	TTTGAAGAAACGAATTCAGTG	0.393													T	169512035	C	T	169512035	3	4	684	1	0	0	0	0	1	0	0	0	5390	536	19	1	4433	1	F5	1	169512035	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	55578074	169512035	79738586	2	53443											
RASAL2	9462	broad.mit.edu	37	chr1	178421757	178421757	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gactctaactcttattgccaAggtcattcagaacctggcca	11	11	7	12	0	4	1	2	0	2	1	4	2	4	1	3	2	3	0	3	2	4	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr1:178421757A>G	ENST00000448150.3	+	11	2743	c.1925A>G	c.(1924-1926)aAg>aGg	p.K642R	RASAL2_ENST00000462775.1_Missense_Mutation_p.K512R|RASAL2_ENST00000367649.3_Missense_Mutation_p.K660R	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	512					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						CTTATTGCCAAGGTCATTCAG	0.418													G	178421757	A	G	178421757	3	3	684	1	0	0	0	0	1	0	0	0	13152	72	3	3	2038	3	RASAL2	1	178421757	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	8909722	178421757	70828864	3	53444											
ASTL	431705	broad.mit.edu	37	chr2	96799705	96799705	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgccatgctcactcaccGtacttgctggagagcaggaa	9	7	12	13	3	2	1	2	0	0	1	2	3	2	2	2	2	4	4	2	2	2	2	rs148110898		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	112					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCACTCACCGTACTTGCTGG	0.582													A	96799705	G	A	96799705	5	1	684	1	0	0	0	0	0	0	1	0	1068	1159	40	1	982	1	ASTL	2	96799705	Splice_Site	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		96799705	146399668	4	53445											
RANBP2	5903	broad.mit.edu	37	chr2	109370354	109370354	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaagaagaatgcaaaaattAtctgagaaagaccagggact	20	6	9	6	0	1	4	0	1	1	4	1	6	1	5	1	1	1	1	1	1	7	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:109370354A>G	ENST00000283195.6	+	15	2255	c.2129A>G	c.(2128-2130)tAt>tGt	p.Y710C		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	710					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGCAAAAATTATCTGAGAAAG	0.348													G	109370354	A	G	109370354	3	3	684	1	0	0	0	0	1	0	0	0	13116	449	16	3	2187	3	RANBP2	2	109370354	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	12570649	109370354	133829019	5	53446											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	684	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	99742758	209113112	34086261	6	53447											
MTMR14	64419	broad.mit.edu	37	chr3	9695406	9695406	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atctgtggccactatccccgGcacatcgtgttcctggagta	7	11	10	13	2	1	0	0	0	1	0	4	1	3	1	4	3	0	3	4	3	2	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:9695406G>A	ENST00000296003.4	+	2	383	c.261G>A	c.(259-261)cgG>cgA	p.R87R	MTMR14_ENST00000351233.5_Silent_p.R87R|MTMR14_ENST00000420925.1_Intron|MTMR14_ENST00000353332.5_Silent_p.R87R	NM_001077525.2	NP_001070993.1	Q8NCE2	MTMRE_HUMAN	myotubularin related protein 14	87						perinuclear region of cytoplasm|ruffle	phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(1)|endometrium(3)|kidney(2)|lung(10)|skin(3)|upper_aerodigestive_tract(2)	21	Medulloblastoma(99;0.227)					ACTATCCCCGGCACATCGTGT	0.507													A	9695406	G	A	9695406	2	1	684	1	0	0	0	0	0	0	0	1	10018	1190	42	2		2	MTMR14	3	9695406	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		9695406	188327024	7	53448											
DNAH1	25981	broad.mit.edu	37	chr3	52430944	52430944	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcactgatgactgggacCggcgctgcatcatgaacatc	9	9	12	11	2	2	3	2	3	0	0	3	4	2	4	1	2	2	2	1	2	1	0			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:52430944C>T	ENST00000420323.2	+	73	11932	c.11671C>T	c.(11671-11673)Cgg>Tgg	p.R3891W		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	3956	AAA 6 (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)		TGACTGGGACCGGCGCTGCAT	0.607													T	52430944	C	T	52430944	3	4	684	1	0	0	0	0	1	0	0	0	4636	643	23	1	11957	1	DNAH1	3	52430944	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	42735538	52430944	145591486	8	53449											
DRD3	1814	broad.mit.edu	37	chr3	113847660	113847660	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcacgtagcccagccatGtcgtggcactgtaaagctct	9	11	9	12	2	2	0	1	0	1	0	3	0	2	0	2	1	3	4	2	1	4	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr3:113847660G>A	ENST00000383673.2	-	7	1536	c.1106C>T	c.(1105-1107)aCa>aTa	p.T369I	DRD3_ENST00000467632.1_Missense_Mutation_p.T369I|DRD3_ENST00000460779.1_Missense_Mutation_p.T369I|DRD3_ENST00000295881.7_Missense_Mutation_p.T336I	NM_000796.3	NP_000787.2	P35462	DRD3_HUMAN	dopamine receptor D3	369					activation of adenylate cyclase activity by dopamine receptor signaling pathway|arachidonic acid secretion|behavioral response to cocaine|cellular calcium ion homeostasis|circadian regulation of gene expression|G-protein coupled receptor internalization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|locomotory behavior|musculoskeletal movement, spinal reflex action|negative regulation of blood pressure|negative regulation of oligodendrocyte differentiation|negative regulation of protein kinase B signaling cascade|negative regulation of protein secretion|positive regulation of dopamine receptor signaling pathway|positive regulation of mitosis|prepulse inhibition|regulation of dopamine secretion|response to drug|response to histamine|response to morphine|social behavior|visual learning	integral to plasma membrane	dopamine D3 receptor activity|drug binding			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(23)|ovary(1)|pancreas(1)|skin(1)	36					Apomorphine(DB00714)|Chlorprothixene(DB01239)|Cocaine(DB00907)|Methotrimeprazine(DB01403)|Olanzapine(DB00334)|Pramipexole(DB00413)|Ropinirole(DB00268)|Ziprasidone(DB00246)	GCCCAGCCATGTCGTGGCACT	0.542													A	113847660	G	A	113847660	3	1	684	1	0	0	0	0	1	0	0	0	4797	1377	48	2	100	2	DRD3	3	113847660	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	61416716	113847660	84174770	9	53450											
CDYL	9425	broad.mit.edu	37	chr6	4937890	4937890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggcagcgtcttctgttGtggacttgactttatttatt	5	19	10	7	2	2	1	0	1	2	0	2	2	2	2	0	2	1	3	0	2	2	9			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:4937890G>A	ENST00000328908.5	+	6	1333	c.1202G>A	c.(1201-1203)tGt>tAt	p.C401Y	CDYL_ENST00000449732.2_Missense_Mutation_p.C215Y|CDYL_ENST00000343762.5_Missense_Mutation_p.C215Y|CDYL_ENST00000472453.1_3'UTR|CDYL_ENST00000397588.3_Missense_Mutation_p.C347Y			Q9Y232	CDYL1_HUMAN	chromodomain protein, Y-like	401					regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	histone acetyltransferase activity			breast(2)|kidney(2)|large_intestine(9)|lung(13)|skin(1)|stomach(2)|urinary_tract(1)	30	Ovarian(93;0.11)	all_hematologic(90;0.0901)|Lung NSC(90;0.244)		OV - Ovarian serous cystadenocarcinoma(45;0.182)		GTCTTCTGTTGTGGACTTGAC	0.458													A	4937890	G	A	4937890	3	1	684	1	0	0	0	0	1	0	0	0	3215	1377	48	2	1054	2	CDYL	6	4937890	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		4937890	166177177	10	53451											
TDRD6	221400	broad.mit.edu	37	chr6	46660172	46660172	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattctaagaaaatgatgcAttacttttcccaacggacca	16	11	5	9	1	1	2	0	1	1	1	2	3	2	3	2	1	3	1	2	1	6	5			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:46660172A>G	ENST00000544460.1	+	1	4561	c.4307A>G	c.(4306-4308)cAt>cGt	p.H1436R	TDRD6_ENST00000316081.6_Missense_Mutation_p.H1436R	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	1436					cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			AAAATGATGCATTACTTTTCC	0.398													G	46660172	A	G	46660172	3	3	684	1	0	0	0	0	1	0	0	0	15834	217	8	3	4309	3	TDRD6	6	46660172	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	41722282	46660172	124454895	11	53452											
TFAP2D	83741	broad.mit.edu	37	chr6	50740356	50740356	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctatcacttctcatttccAgtttgatcactcatggcttt	7	18	4	12	0	4	1	4	1	1	0	7	1	6	1	2	1	0	2	2	1	1	5			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr6:50740356A>G	ENST00000008391.3	+	8	1367		c.e8-1			NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)								DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TCTCATTTCCAGTTTGATCAC	0.378													G	50740356	A	G	50740356	5	3	684	1	0	0	0	0	0	0	1	0	15890	202	7	3	1168	3	TFAP2D	6	50740356	Splice_Site	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	4080184	50740356	120374711	12	53453											
SEMA3A	10371	broad.mit.edu	37	chr7	83739852	83739852	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccccgttccacaggcgtaCaagtgagtctgattatatgc	9	10	10	12	2	1	2	0	2	1	0	2	2	2	2	3	1	2	2	3	1	4	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr7:83739852C>T	ENST00000265362.4	-	4	701	c.387G>A	c.(385-387)ttG>ttA	p.L129L	SEMA3A_ENST00000436949.1_Silent_p.L129L	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CACAGGCGTACAAGTGAGTCT	0.383													T	83739852	C	T	83739852	2	4	684	1	0	0	0	0	0	0	0	1	14117	477	17	2		2	SEMA3A	7	83739852	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		83739852	75398811	13	53454											
C9orf3	84909	broad.mit.edu	37	chr9	97843039	97843039	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgaaagcctacaaaagtgtgGagaggttccttcaggaggat	13	8	13	7	1	1	1	1	0	0	1	2	5	2	3	2	4	2	1	2	4	4	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:97843039G>A	ENST00000375315.2	+	14	2296	c.2296G>A	c.(2296-2298)Gag>Aag	p.E766K	C9orf3_ENST00000433691.2_Missense_Mutation_p.E107K|C9orf3_ENST00000425634.2_Missense_Mutation_p.E128K|C9orf3_ENST00000297979.5_Missense_Mutation_p.E667K	NM_001193329.1	NP_001180258.1	Q8N6M6	AMPO_HUMAN	chromosome 9 open reading frame 3	766					leukotriene biosynthetic process|proteolysis	cytoplasm	aminopeptidase activity|metallopeptidase activity|zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(323;0.000275)		CAAAAGTGTGGAGAGGTTCCT	0.502													A	97843039	G	A	97843039	3	1	684	1	0	0	0	0	1	0	0	0	2503	1175	41	2	2045	2	C9orf3	9	97843039	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		97843039	43370392	14	53455											
FKBP15	23307	broad.mit.edu	37	chr9	115945062	115945062	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccttctcttgttcagcaTgcaatactcttgcctgtgtg	6	17	7	11	0	3	0	1	0	2	0	4	0	3	0	2	0	5	3	2	0	3	6			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:115945062T>C	ENST00000238256.3	-	19	2015	c.1898A>G	c.(1897-1899)cAt>cGt	p.H633R		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	633					endocytosis|protein folding	axon|early endosome	actin binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						TTGTTCAGCATGCAATACTCT	0.463													C	115945062	T	C	115945062	3	2	684	1	0	0	0	0	1	0	0	0	5954	1464	51	3	1801	3	FKBP15	9	115945062	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	18102023	115945062	25268369	15	53456											
TNC	3371	broad.mit.edu	37	chr9	117786329	117786329	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaccagaaagcccctttgtAggacagagcacagttggtga	12	8	12	9	0	0	3	0	1	0	2	0	4	0	4	3	2	3	4	3	2	3	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr9:117786329A>G	ENST00000350763.4	-	27	6829	c.6418T>C	c.(6418-6420)Tac>Cac	p.Y2140H	TNC_ENST00000423613.2_Missense_Mutation_p.Y1867H|TNC_ENST00000535648.1_Missense_Mutation_p.Y1685H|TNC_ENST00000537320.1_Missense_Mutation_p.Y1503H|TNC_ENST00000345230.3_Missense_Mutation_p.Y1503H|TNC_ENST00000341037.4_Missense_Mutation_p.Y1958H|TNC_ENST00000346706.3_Missense_Mutation_p.Y1594H|TNC_ENST00000340094.3_Missense_Mutation_p.Y1776H|TNC_ENST00000542877.1_Missense_Mutation_p.Y1777H	NM_002160.3	NP_002151.2	P24821	TENA_HUMAN	tenascin C	2140	Fibrinogen C-terminal.			YKGA -> TRG (in Ref. 2; CAA39628).	cell adhesion|response to wounding|signal transduction	extracellular space	receptor binding|syndecan binding			NS(3)|breast(5)|central_nervous_system(4)|endometrium(8)|kidney(6)|large_intestine(32)|liver(1)|lung(39)|ovary(1)|pancreas(2)|prostate(5)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	120						GCCCCTTTGTAGGACAGAGCA	0.537													G	117786329	A	G	117786329	3	3	684	1	0	0	0	0	1	0	0	0	16370	420	15	3	195	3	TNC	9	117786329	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	1841267	117786329	23427102	16	53457											
MUC2	4583	broad.mit.edu	37	chr11	1093740	1093740	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgaccacatccaatcctccGcctgagtcctcaacccctca	9	9	4	19	1	2	2	2	2	0	0	6	2	6	2	8	0	1	0	8	0	2	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:1093740G>C	ENST00000441003.2	+	30	5586	c.5559G>C	c.(5557-5559)ccG>ccC	p.P1853P	MUC2_ENST00000361558.6_Intron|MUC2_ENST00000333592.6_Silent_p.P141P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	1856						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	CCAATCCTCCGCCTGAGTCCT	0.602													C	1093740	G	C	1093740	2	2	684	1	0	0	0	0	0	0	0	1	10051	1074	38	4		4	MUC2	11	1093740	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08		1093740	133912776	17	53458											
ABCC8	6833	broad.mit.edu	37	chr11	17429999	17429999	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagtgctcaaagagctggcaTtcagacctctggaagtcctt	10	10	10	11	0	3	2	2	0	1	2	4	3	4	3	2	2	2	3	2	2	2	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr11:17429999T>A	ENST00000302539.4	-	23	2888	c.2763A>T	c.(2761-2763)gaA>gaT	p.E921D	ABCC8_ENST00000389817.3_Missense_Mutation_p.E920D	NM_000352.3	NP_000343.2	Q09428	ABCC8_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 8	920	ABC transporter 1.				carbohydrate metabolic process|energy reserve metabolic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium ion transmembrane transporter activity|sulfonylurea receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(38)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	67				READ - Rectum adenocarcinoma(2;0.0325)|Colorectal(2;0.1)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)|Gliclazide(DB01120)|Mitiglinide(DB01252)|Nateglinide(DB00731)|Repaglinide(DB00912)	AGAGCTGGCATTCAGACCTCT	0.557													A	17429999	T	A	17429999	3	1	684	1	0	0	0	0	1	0	0	0	58	1490	52	5	2053	5	ABCC8	11	17429999	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	16336259	17429999	117576517	18	53459											
MAP3K12	7786	broad.mit.edu	37	chr12	53880246	53880246	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagtgatgatgttggggtgCttcagctttcgcaagtgctt	8	14	13	6	1	1	2	1	2	0	0	2	2	1	2	0	2	3	5	0	2	2	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:53880246C>G	ENST00000267079.2	-	4	732	c.507G>C	c.(505-507)aaG>aaC	p.K169N	MAP3K12_ENST00000547035.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547488.1_Missense_Mutation_p.K202N|MAP3K12_ENST00000547151.1_5'UTR	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	169	Protein kinase.				histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						TGTTGGGGTGCTTCAGCTTTC	0.582													G	53880246	C	G	53880246	3	3	684	1	0	0	0	0	1	0	0	0	9321	796	28	4	2120	4	MAP3K12	12	53880246	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		53880246	79971649	19	53460											
OAS3	4940	broad.mit.edu	37	chr12	113400550	113400550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccatctttgcctgggagcagGgctgcaggcaggattgtttc	6	11	14	10	0	1	0	0	0	1	0	2	2	1	2	2	4	3	5	2	4	0	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr12:113400550G>A	ENST00000228928.7	+	9	2106	c.1927G>A	c.(1927-1929)Ggc>Agc	p.G643S	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	643	OAS domain 2.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						CTGGGAGCAGGGCTGCAGGCA	0.597													A	113400550	G	A	113400550	3	1	684	1	0	0	0	0	1	0	0	0	10877	1232	43	2	1961	2	OAS3	12	113400550	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	59520304	113400550	20451345	20	53461											
CDK8	1024	broad.mit.edu	37	chr13	26967554	26967554	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aactactaacgtcagaaccaAtatttcactgtcgacaagag	16	9	6	10	2	2	2	2	0	0	2	3	3	2	2	1	0	4	0	1	0	7	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:26967554A>G	ENST00000381527.3	+	7	1200	c.697A>G	c.(697-699)Ata>Gta	p.I233V	CDK8_ENST00000536792.1_3'UTR	NM_001260.1	NP_001251.1	P49336	CDK8_HUMAN	cyclin-dependent kinase 8	233	Protein kinase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mediator complex	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|urinary_tract(1)	25	Colorectal(5;0.000442)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0384)|Epithelial(112;0.142)|OV - Ovarian serous cystadenocarcinoma(117;0.188)		GTCAGAACCAATATTTCACTG	0.343													G	26967554	A	G	26967554	3	3	684	1	0	0	0	0	1	0	0	0	3180	101	4	3	723	3	CDK8	13	26967554	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08		26967554	88202324	21	53462											
POSTN	10631	broad.mit.edu	37	chr13	38143490	38143490	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaataaatgaccatcaccaCcttcaatgaatttggtgacc	15	10	5	11	0	2	3	2	3	0	0	2	3	2	3	4	1	0	0	4	1	5	3			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr13:38143490C>A	ENST00000379747.4	-	21	2495	c.2378G>T	c.(2377-2379)gGt>gTt	p.G793V	POSTN_ENST00000541179.1_Intron|POSTN_ENST00000379749.4_Intron|POSTN_ENST00000541481.1_Missense_Mutation_p.G706V|POSTN_ENST00000379743.4_Missense_Mutation_p.G766V|POSTN_ENST00000379742.4_Missense_Mutation_p.G736V|POSTN_ENST00000497145.1_5'UTR	NM_006475.2	NP_006466.2	Q15063	POSTN_HUMAN	periostin, osteoblast specific factor	793					cell adhesion|skeletal system development	proteinaceous extracellular matrix	heparin binding	p.G793D(1)		cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(16)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	59		Lung NSC(96;2.09e-05)|Prostate(109;0.0513)|Breast(139;0.0538)|Lung SC(185;0.0743)		all cancers(112;2.48e-08)|Epithelial(112;2.78e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000853)|BRCA - Breast invasive adenocarcinoma(63;0.013)|GBM - Glioblastoma multiforme(144;0.0154)		ACCATCACCACCTTCAATGAA	0.363													A	38143490	C	A	38143490	3	1	684	1	0	0	0	0	1	0	0	0	12336	507	18	4	144	4	POSTN	13	38143490	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	11175936	38143490	77026388	22	53463											
OR4E2	26686	broad.mit.edu	37	chr14	22134124	22134124	+	Frame_Shift_Del	DEL	A	A	-																															gtggtgtctgtcttctacacAgtggtcacccctttgctgaa																										TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr14:22134124delA	ENST00000408935.1	+	1	828	c.828delA	c.(826-828)acafs	p.T276fs		NM_001001912.1	NP_001001912.1	Q8NGC2	OR4E2_HUMAN	olfactory receptor, family 4, subfamily E, member 2	276					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	15	all_cancers(95;0.00113)	Acute lymphoblastic leukemia(2;0.0279)		GBM - Glioblastoma multiforme(265;0.0137)		TCTTCTACACAGTGGTCACCC	0.473													-	22134124	A	-	22134124	7	5	684	1	0	1	0	1	0	0	0	0	11136	175	7	0	830	0	OR4E2	14	22134124	Frame_Shift_Del	DEL	A	TCGA-R8-A73M-01A-11D-A32B-08		22134124	85215416	23	53464											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	10	9	13	1	4	0	2	0	2	0	5	0	4	0	2	2	4	2	2	2	2	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517													T	3293588	C	T	3293588	2	4	684	1	0	0	0	0	0	0	0	1	9534	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		3293588	87061165	24	53465											
USP7	7874	broad.mit.edu	37	chr16	9014244	9014244	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atggggagcatccgcctgtaCaaagacttcaaaggtaactt	13	9	10	9	1	1	1	1	0	0	1	2	2	2	2	2	3	3	3	2	3	4	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr16:9014244C>G	ENST00000344836.4	-	5	781	c.583G>C	c.(583-585)Gta>Cta	p.V195L	USP7_ENST00000535863.1_Missense_Mutation_p.V96L|USP7_ENST00000381886.4_Missense_Mutation_p.V179L	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	195	Interaction with TSPYL5.|Interaction with p53/TP53, MDM2 and EBNA1.|MATH.|Necessary for nuclear localization.				interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCGCCTGTACAAAGACTTCA	0.378													G	9014244	C	G	9014244	3	3	684	1	0	0	0	0	1	0	0	0	17190	478	17	4	2833	4	USP7	16	9014244	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08	5720656	9014244	81340509	25	53466											
GSG2	83903	broad.mit.edu	37	chr17	3628342	3628342	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gattcgttccccacccaggaCctgactcctttacagaatgt	9	11	7	14	1	0	2	0	1	0	1	3	4	2	3	5	1	1	1	5	1	2	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:3628342C>A	ENST00000325418.4	+	1	1132	c.1113C>A	c.(1111-1113)gaC>gaA	p.D371E	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	371					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										CCACCCAGGACCTGACTCCTT	0.488													A	3628342	C	A	3628342	3	1	684	1	0	0	0	0	1	0	0	0	6877	506	18	4	1115	4	GSG2	17	3628342	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		3628342	77566868	26	53467											
CD68	968	broad.mit.edu	37	chr17	7484227	7484227	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctccagagtggacattctcGgctcagaatgcatcccttcg	8	10	9	14	2	2	2	1	0	1	2	6	3	4	3	3	2	1	2	3	2	1	2	rs149306377		TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr17:7484227G>A	ENST00000250092.6	+	5	985	c.774G>A	c.(772-774)tcG>tcA	p.S258S	CD68_ENST00000380498.6_Silent_p.S231S	NM_001251.2	NP_001242.2	P34810	CD68_HUMAN	CD68 molecule	258						endosome membrane|integral to membrane|lysosomal membrane|membrane fraction|plasma membrane				endometrium(1)|lung(1)|skin(1)	3						GGACATTCTCGGCTCAGAATG	0.562													A	7484227	G	A	7484227	2	1	684	1	0	0	0	0	0	0	0	1	3060	1103	39	1		1	CD68	17	7484227	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	3855885	7484227	73710983	27	53468											
INSR	3643	broad.mit.edu	37	chr19	7132266	7132266	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtagttccccggtgacagCccacgcagcctgcagccccg	6	6	11	18	3	0	1	0	1	0	0	1	1	1	1	6	1	4	4	6	1	1	2			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:7132266C>A	ENST00000341500.5	-	13	2748	c.2709G>T	c.(2707-2709)ggG>ggT	p.G903G	INSR_ENST00000302850.5_Silent_p.G915G	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	915	Fibronectin type-III 3.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding			breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CCGGTGACAGCCCACGCAGCC	0.617													A	7132266	C	A	7132266	2	1	684	1	0	0	0	0	0	0	0	1	7831	726	26	4		4	INSR	19	7132266	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		7132266	51996717	28	53469											
CIC	23152	broad.mit.edu	37	chr19	42791836	42791836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcgagtggtggtatgcccTggggcccaaggagaagcaga	9	5	19	8	1	0	2	0	0	0	2	0	4	0	2	2	6	2	2	2	6	3	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr19:42791836T>C	ENST00000572681.2	+	6	3517	c.3449T>C	c.(3448-3450)cTg>cCg	p.L1150P	CIC_ENST00000160740.3_Missense_Mutation_p.L241P|CIC_ENST00000575354.2_Missense_Mutation_p.L241P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	241	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGGTATGCCCTGGGGCCCAAG	0.612			"Mis, F, S"		oligodendroglioma								C	42791836	T	C	42791836	3	2	684	1	0	0	0	0	1	0	0	0	3454	1580	55	3	740	3	CIC	19	42791836	Missense_Mutation	SNP	T	TCGA-R8-A73M-01A-11D-A32B-08	35659570	42791836	16337147	29	53470											
CHD6	84181	broad.mit.edu	37	chr20	40102094	40102094	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctgaatctggcttacagaaCcggtcgatggctgcctggcg	7	10	13	11	3	2	2	0	1	2	1	3	3	2	2	2	4	3	2	2	4	3	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chr20:40102094C>G	ENST00000373233.3	-	17	2709	c.2532G>C	c.(2530-2532)cgG>cgC	p.R844R	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	844	Helicase C-terminal.				chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				GCTTACAGAACCGGTCGATGG	0.537													G	40102094	C	G	40102094	2	3	684	1	0	0	0	0	0	0	0	1	3359	494	18	4		4	CHD6	20	40102094	Silent	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		40102094	22923426	30	53471											
CACNA1F	778	broad.mit.edu	37	chrX	49071867	49071867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacggaaagtgatgatgaCgaagcccacgaagatgttca	14	6	13	8	3	1	4	1	3	0	1	1	7	1	5	1	2	1	2	1	2	3	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49071867C>T	ENST00000376265.2	-	28	3467	c.3406G>A	c.(3406-3408)Gtc>Atc	p.V1136I	CACNA1F_ENST00000376251.1_Missense_Mutation_p.V1071I|CACNA1F_ENST00000323022.5_Missense_Mutation_p.V1125I	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1136	Dihydropyridine binding (By similarity).				axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	GTGATGATGACGAAGCCCACG	0.502													T	49071867	C	T	49071867	3	4	684	1	0	0	0	0	1	0	0	0	2569	536	19	1	2611	1	CACNA1F	23	49071867	Missense_Mutation	SNP	C	TCGA-R8-A73M-01A-11D-A32B-08		49071867	106198693	31	53472											
PAGE1	8712	broad.mit.edu	37	chrX	49459349	49459349	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatcattggtctacgccgatAgattaatcttcttagaaaac	13	13	7	8	2	4	2	1	0	3	2	4	4	4	2	1	1	2	0	1	1	6	6			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:49459349A>T	ENST00000376150.3	-	2	157	c.25T>A	c.(25-27)Tat>Aat	p.Y9N		NM_003785.3	NP_003776.2	O75459	GAGB1_HUMAN	P antigen family, member 1 (prostate associated)	9					cellular defense response					endometrium(1)|large_intestine(2)|lung(2)|skin(1)|urinary_tract(1)	7	Ovarian(276;0.236)					CTACGCCGATAGATTAATCTT	0.373													T	49459349	A	T	49459349	3	4	684	1	0	0	0	0	1	0	0	0	11465	420	15	5	435	5	PAGE1	23	49459349	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	387482	49459349	105811211	32	53473											
PCDH19	57526	broad.mit.edu	37	chrX	99662867	99662867	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctggcacgctcaccgcGtaggtggactcgctaaacac	8	10	10	13	4	2	0	1	0	1	0	3	1	2	1	1	3	1	4	1	3	3	4			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:99662867G>A	ENST00000373034.4	-	1	2404	c.729C>T	c.(727-729)taC>taT	p.Y243Y	PCDH19_ENST00000255531.7_Silent_p.Y243Y|PCDH19_ENST00000420881.2_Silent_p.Y243Y	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	243	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						CGCTCACCGCGTAGGTGGACT	0.627													A	99662867	G	A	99662867	2	1	684	1	0	0	0	0	0	0	0	1	11590	1140	40	1		1	PCDH19	23	99662867	Silent	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	50203518	99662867	55607693	33	53474											
THOC2	57187	broad.mit.edu	37	chrX	122757971	122757971	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattttcatagtctaattgAtcagccttatttccaccatc	12	16	3	10	0	3	1	2	1	1	0	5	1	4	1	3	0	1	0	3	0	4	7			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:122757971A>G	ENST00000245838.8	-	27	3289	c.3258T>C	c.(3256-3258)gaT>gaC	p.D1086D	THOC2_ENST00000355725.4_Silent_p.D1086D|THOC2_ENST00000491737.1_Silent_p.D971D	NM_001081550.1	NP_001075019.1	Q8NI27	THOC2_HUMAN	THO complex 2	1086					intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	protein binding|RNA binding			breast(2)|endometrium(13)|kidney(4)|large_intestine(11)|lung(26)|ovary(3)|skin(1)|upper_aerodigestive_tract(3)	63						AGTCTAATTGATCAGCCTTAT	0.323													G	122757971	A	G	122757971	2	3	684	1	0	0	0	0	0	0	0	1	15965	330	12	3		3	THOC2	23	122757971	Silent	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	23095104	122757971	32512589	34	53475											
ELF4	2000	broad.mit.edu	37	chrX	129201056	129201056	+	Frame_Shift_Del	DEL	G	G	-																															accataccctgaacataggaGgaggacctcagtggcccctc																										TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129201056delG	ENST00000308167.5	-	9	2011	c.1632delC	c.(1630-1632)tccfs	p.S545fs	ELF4_ENST00000335997.7_Frame_Shift_Del_p.S545fs	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	545					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAACATAGGAGGAGGACCTCA	0.617			T	ERG	AML								-	129201056	G	-	129201056	7	5	684	1	0	1	0	1	0	0	0	0	5097	987	35	0	363	0	ELF4	23	129201056	Frame_Shift_Del	DEL	G	TCGA-R8-A73M-01A-11D-A32B-08	6443085	129201056	26069504	35	53476											
GPR119	139760	broad.mit.edu	37	chrX	129519123	129519123	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcaaggtacctgtcaaagGtgatcagcatgaccgtgagg	11	8	14	8	1	2	3	2	3	0	0	2	3	2	3	2	4	2	3	2	4	3	1			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:129519123G>T	ENST00000276218.2	-	1	388	c.299C>A	c.(298-300)aCc>aAc	p.T100N		NM_178471.2	NP_848566.1	Q8TDV5	GP119_HUMAN	G protein-coupled receptor 119	100						integral to membrane|plasma membrane	lipid binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|ovary(3)|prostate(1)	11						CCTGTCAAAGGTGATCAGCAT	0.587													T	129519123	G	T	129519123	3	4	684	1	0	0	0	0	1	0	0	0	6688	1261	44	4	712	4	GPR119	23	129519123	Missense_Mutation	SNP	G	TCGA-R8-A73M-01A-11D-A32B-08	318067	129519123	25751437	36	53477											
GPR112	139378	broad.mit.edu	37	chrX	135431378	135431378	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctttgacatcatttgtttAttcacctcatagtactgaag	10	17	5	9	0	4	2	3	2	1	0	4	2	4	2	1	0	1	2	1	0	4	7			TCGA-R8-A73M-01A-11D-A32B-08	TCGA-R8-A73M-10C-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a8644f8a-beac-4a95-8b6a-e4e081917313	a243fe0c-19bb-49b3-8547-48cb29ace8e3	g.chrX:135431378A>T	ENST00000394143.1	+	6	5804	c.5513A>T	c.(5512-5514)tAt>tTt	p.Y1838F	GPR112_ENST00000412101.1_Missense_Mutation_p.Y1633F|GPR112_ENST00000287534.4_Missense_Mutation_p.Y1775F|GPR112_ENST00000370652.1_Missense_Mutation_p.Y1838F|GPR112_ENST00000394141.1_Missense_Mutation_p.Y1633F	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	1838					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					TCATTTGTTTATTCACCTCAT	0.438													T	135431378	A	T	135431378	3	4	684	1	0	0	0	0	1	0	0	0	6683	449	16	5	5523	5	GPR112	23	135431378	Missense_Mutation	SNP	A	TCGA-R8-A73M-01A-11D-A32B-08	5912255	135431378	19839182	37	53478											
ADAR	103	broad.mit.edu	37	chr1	154574120	154574120	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctttccatgtcaattagcAcagcatttatatctcgggcc	9	13	7	12	1	2	0	1	0	1	0	4	0	3	0	3	1	2	2	3	1	4	5			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr1:154574120A>C	ENST00000368474.4	-	2	1197	c.998T>G	c.(997-999)gTg>gGg	p.V333G	ADAR_ENST00000368471.3_Missense_Mutation_p.V38G|ADAR_ENST00000292205.5_Missense_Mutation_p.V376G	NM_001111.4|NM_015840.3|NM_015841.3	NP_001102|NP_056655.2|NP_056656.2	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	333					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		GTCAATTAGCACAGCATTTAT	0.453													C	154574120	A	C	154574120	3	2	685	1	0	0	0	0	1	0	0	0	281	159	6	5	2738	5	ADAR	1	154574120	Missense_Mutation	SNP	A	TCGA-RY-A83X-01A-11D-A36O-08		154574120	94676501	1	53479											
ZNF638	27332	broad.mit.edu	37	chr2	71658501	71658501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attcagaaccagagcgaaaaCgcaagaagactgaagactct	18	5	9	9	2	2	6	1	1	1	5	2	7	2	6	1	0	3	1	1	0	6	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:71658501C>T	ENST00000409544.1	+	26	6325	c.5695C>T	c.(5695-5697)Cgc>Tgc	p.R1899C	ZNF638_ENST00000264447.4_Missense_Mutation_p.R1899C|ZNF638_ENST00000409407.1_Missense_Mutation_p.R839C|ZNF638_ENST00000355812.3_3'UTR	NM_001252612.1	NP_001239541.1	Q14966	ZN638_HUMAN	zinc finger protein 638	1899					RNA splicing	cytoplasm|nuclear speck	double-stranded DNA binding|nucleotide binding|RNA binding|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|lung(28)|ovary(2)|pancreas(2)|prostate(1)|skin(2)|urinary_tract(1)	63						AGAGCGAAAACGCAAGAAGAC	0.353													T	71658501	C	T	71658501	3	4	685	1	0	0	0	0	1	0	0	0	18156	536	19	1	5793	1	ZNF638	2	71658501	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		71658501	171540872	2	53480											
CCDC150	284992	broad.mit.edu	37	chr2	197541384	197541384	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aatcaactattgcaagattgCgaggtgaattggaagcatca	15	10	10	6	1	2	2	2	1	0	1	2	4	2	3	0	2	4	2	0	2	6	4			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:197541384C>T	ENST00000389175.4	+	12	1504	c.1369C>T	c.(1369-1371)Cga>Tga	p.R457*	CCDC150_ENST00000472405.2_3'UTR|CCDC150_ENST00000423093.2_Nonsense_Mutation_p.R125*|CCDC150_ENST00000272831.7_Nonsense_Mutation_p.R125*	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	457										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TGCAAGATTGCGAGGTGAATT	0.403													T	197541384	C	T	197541384	4	4	685	1	0	0	0	0	0	1	0	0	2811	760	27	1	1415	1	CCDC150	2	197541384	Nonsense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	125882883	197541384	45657989	3	53481											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	685	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	11571728	209113112	34086261	4	53482											
ARMC9	80210	broad.mit.edu	37	chr2	232141451	232141451	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gactacacgctggagtactcGgtggctttgctcatgaacct	8	11	11	11	2	1	1	1	1	0	0	2	3	1	2	1	3	4	4	1	3	3	3	rs141707678	by1000genomes	TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr2:232141451G>T	ENST00000349938.4	+	15	1631	c.1437G>T	c.(1435-1437)tcG>tcT	p.S479S	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	479							binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		TGGAGTACTCGGTGGCTTTGC	0.562													T	232141451	G	T	232141451	2	4	685	1	0	0	0	0	0	0	0	1	963	1103	39	4		4	ARMC9	2	232141451	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	23028339	232141451	11057922	5	53483											
MAML3	55534	broad.mit.edu	37	chr4	140811108	140811108	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgttgctg	0	15	14	12	0	0	0	0	0	0	0	0	0	0	0	0	0	12	13	0	0	0	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr4:140811108C>T	ENST00000509479.2	-	2	2338	c.1482G>A	c.(1480-1482)caG>caA	p.Q494Q	MAML3_ENST00000327122.5_Silent_p.Q338Q|MAML3_ENST00000398940.1_Silent_p.Q33Q	NM_018717.4	NP_061187	Q96JK9	MAML3_HUMAN	mastermind-like 3 (Drosophila)	494	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)					gctgctgctgctgctgctgct	0.537													T	140811108	C	T	140811108	2	4	685	1	0	0	0	0	0	0	0	1	9282	796	28	2		2	MAML3	4	140811108	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		140811108	50343168	6	53484											
IGF2BP3	10643	broad.mit.edu	37	chr7	23381773	23381773	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtgggaacagacccaaggcGttcagatttaatccaggaat	13	8	12	8	1	1	2	1	0	0	2	2	4	2	4	2	4	1	1	2	4	4	3			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:23381773G>A	ENST00000258729.3	-	10	1469	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N		NM_006547.2	NP_006538.2	O00425	IF2B3_HUMAN	insulin-like growth factor 2 mRNA binding protein 3	371					anatomical structure morphogenesis|negative regulation of translation|translation	cytosol|nucleus	mRNA 3'-UTR binding|mRNA 5'-UTR binding|nucleotide binding|protein binding|translation regulator activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(14)|ovary(2)|prostate(2)|skin(4)|stomach(1)	34						GACCCAAGGCGTTCAGATTTA	0.468													A	23381773	G	A	23381773	2	1	685	1	0	0	0	0	0	0	0	1	7633	1136	40	1		1	IGF2BP3	7	23381773	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		23381773	135756890	7	53485											
TYW1B	441250	broad.mit.edu	37	chr7	72081809	72081809	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcttgctgaactttctcTgcagtaggtaacgccctgtg	7	13	10	11	1	1	1	0	1	1	0	2	1	1	1	1	1	5	5	1	1	3	4			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:72081809T>C	ENST00000343721.5	-	0	816				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										GAACTTTCTCTGCAGTAGGTA	0.498													C	72081809	T	C	72081809	1	2	685	0	1	0	0	0	0	0	0	0	16921	1588	55	3		3	TYW1B	7	72081809	RNA	SNP	T	TCGA-RY-A83X-01A-11D-A36O-08	48700036	72081809	87056854	8	53486											
AGFG2	3268	broad.mit.edu	37	chr7	100161493	100161493	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcagtgctgggcctggctTcccccaggcagtgccaccca	6	6	13	16	0	0	0	0	0	0	0	1	1	1	0	5	3	3	4	5	3	0	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr7:100161493T>C	ENST00000300176.4	+	10	1330	c.1208T>C	c.(1207-1209)tTc>tCc	p.F403S	AGFG2_ENST00000262935.4_3'UTR|AGFG2_ENST00000474713.1_Intron	NM_006076.4	NP_006067.3	O95081	AGFG2_HUMAN	ArfGAP with FG repeats 2	403	Pro-rich.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding	p.F403fs*30(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GGGCCTGGCTTCCCCCAGGCA	0.617											OREG0018204	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	100161493	T	C	100161493	3	2	685	1	0	0	0	0	1	0	0	0	381	1783	62	3	1246	3	AGFG2	7	100161493	Missense_Mutation	SNP	T	TCGA-RY-A83X-01A-11D-A36O-08	28079684	100161493	58977170	9	53487											
PKHD1L1	93035	broad.mit.edu	37	chr8	110530475	110530475	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taccagatgctttatcttttGgttaaaggaactatacctgt	11	16	7	7	0	1	1	0	0	1	1	1	2	1	2	2	2	4	2	2	2	7	8			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr8:110530475G>A	ENST00000378402.5	+	73	11873	c.11769G>A	c.(11767-11769)ttG>ttA	p.L3923L		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	3923					immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTATCTTTTGGTTAAAGGAA	0.378										HNSCC(38;0.096)			A	110530475	G	A	110530475	2	1	685	1	0	0	0	0	0	0	0	1	12049	1339	47	2		2	PKHD1L1	8	110530475	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		110530475	35833547	10	53488											
OR13D1	286365	broad.mit.edu	37	chr9	107456886	107456886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccagctttttctgttcctgCtctgcctcatcatgtacatg	5	17	6	13	0	4	0	2	0	2	0	6	0	6	0	3	0	4	4	3	0	1	4			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107456886C>G	ENST00000318763.5	+	1	227	c.184C>G	c.(184-186)Ctc>Gtc	p.L62V		NM_001004484.1	NP_001004484.1	Q8NGV5	O13D1_HUMAN	olfactory receptor, family 13, subfamily D, member 1	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			large_intestine(4)|lung(10)|ovary(1)|prostate(2)|skin(2)	19						TCTGTTCCTGCTCTGCCTCAT	0.443													G	107456886	C	G	107456886	3	3	685	1	0	0	0	0	1	0	0	0	11016	797	28	4	186	4	OR13D1	9	107456886	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		107456886	33756545	11	53489											
ABCA1	19	broad.mit.edu	37	chr9	107558678	107558678	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcagatgaagatgataatgaCcagtgtggcagggacaacgt	14	7	14	6	1	0	5	0	3	0	2	0	6	0	6	1	2	1	2	1	2	3	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr9:107558678C>T	ENST00000374736.3	-	38	5543	c.5149G>A	c.(5149-5151)Gtc>Atc	p.V1717I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1717					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	ATGATAATGACCAGTGTGGCA	0.433													T	107558678	C	T	107558678	3	4	685	1	0	0	0	0	1	0	0	0	28	507	18	2	1688	2	ABCA1	9	107558678	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08	101792	107558678	33654753	12	53490											
SVIL	6840	broad.mit.edu	37	chr10	29822350	29822350	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttcagggctgtttcgagCactttcctctttcaccaatt	7	15	8	11	1	3	0	2	0	1	0	5	2	4	0	2	1	1	4	2	1	1	5			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:29822350C>G	ENST00000375398.2	-	10	1395	c.946G>C	c.(946-948)Gct>Cct	p.A316P	SVIL_ENST00000375400.3_Intron|SVIL_ENST00000355867.4_Missense_Mutation_p.A316P			O95425	SVIL_HUMAN	supervillin	316					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CTGTTTCGAGCACTTTCCTCT	0.458													G	29822350	C	G	29822350	3	3	685	1	0	0	0	0	1	0	0	0	15517	710	25	4	5822	4	SVIL	10	29822350	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		29822350	105712397	13	53491											
SORCS3	22986	broad.mit.edu	37	chr10	106602584	106602584	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gacgaagctgtatgacttcaAcctgggcagcgtgactgaga	11	8	13	9	2	1	3	1	3	0	1	1	6	1	3	1	1	3	3	1	1	3	2			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr10:106602584A>G	ENST00000369701.3	+	2	889	c.662A>G	c.(661-663)aAc>aGc	p.N221S		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	221						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		TATGACTTCAACCTGGGCAGC	0.483													G	106602584	A	G	106602584	3	3	685	1	0	0	0	0	1	0	0	0	15026	43	2	3	668	3	SORCS3	10	106602584	Missense_Mutation	SNP	A	TCGA-RY-A83X-01A-11D-A36O-08	76780234	106602584	28932163	14	53492											
OR10Q1	219960	broad.mit.edu	37	chr11	57995753	57995753	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaggacagcctggtgcaCgcggatgtcagcgcaggcca	10	5	15	11	3	1	1	1	0	0	1	1	3	1	3	2	4	3	2	2	4	1	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr11:57995753C>T	ENST00000316770.2	-	1	637	c.595G>A	c.(595-597)Gtg>Atg	p.V199M		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V199L(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GCCTGGTGCACGCGGATGTCA	0.592													T	57995753	C	T	57995753	3	4	685	1	0	0	0	0	1	0	0	0	10992	536	19	1	368	1	OR10Q1	11	57995753	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		57995753	77010763	15	53493											
KRT81	3887	broad.mit.edu	37	chr12	52680923	52680923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcaggcgcctgtaggtggCgatctcgatgtccaggccca	7	7	14	13	3	1	0	0	0	1	0	3	2	2	0	3	4	1	2	3	4	1	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:52680923C>T	ENST00000327741.5	-	7	1278	c.1210G>A	c.(1210-1212)Gcc>Acc	p.A404T	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	404	Coil 2.|Rod.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGTAGGTGGCGATCTCGATG	0.642													T	52680923	C	T	52680923	3	4	685	1	0	0	0	0	1	0	0	0	8553	768	27	1	319	1	KRT81	12	52680923	Missense_Mutation	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		52680923	81170972	16	53494											
LRIG3	121227	broad.mit.edu	37	chr12	59274457	59274457	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactggcaaattccacctcGcgcagccgaaggatggtggt	9	8	12	12	3	1	0	1	0	0	0	3	2	2	1	3	4	1	2	3	4	2	1			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:59274457G>A	ENST00000320743.3	-	13	1993	c.1707C>T	c.(1705-1707)cgC>cgT	p.R569R	LRIG3_ENST00000379141.4_Silent_p.R509R	NM_153377.4	NP_700356.2	Q6UXM1	LRIG3_HUMAN	leucine-rich repeats and immunoglobulin-like domains 3	569	Ig-like C2-type 1.					integral to membrane			LRIG3/ROS1(2)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(12)|liver(1)|lung(14)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48			GBM - Glioblastoma multiforme(1;1.17e-18)			ATTCCACCTCGCGCAGCCGAA	0.468			T	ROS1	NSCLC								A	59274457	G	A	59274457	2	1	685	1	0	0	0	0	0	0	0	1	9016	1074	38	1		1	LRIG3	12	59274457	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	6593534	59274457	74577438	17	53495											
UBC	7316	broad.mit.edu	37	chr12	125397211	125397211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggagcaccaggtgcaaggtGgactctttctggatgttgta	8	11	14	8	1	2	0	0	0	2	0	2	3	2	3	1	5	2	4	1	5	2	3			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr12:125397211G>A	ENST00000536769.1	-	1	2683	c.1107C>T	c.(1105-1107)tcC>tcT	p.S369S	UBC_ENST00000339647.5_Silent_p.S369S|UBC_ENST00000546120.1_Silent_p.S293S|UBC_ENST00000538617.1_Intron			P0CG48	UBC_HUMAN	ubiquitin C	369	Ubiquitin-like 5.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GGTGCAAGGTGGACTCTTTCT	0.542													A	125397211	G	A	125397211	2	1	685	1	0	0	0	0	0	0	0	1	16944	1335	47	2		2	UBC	12	125397211	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	66122754	125397211	8454684	18	53496											
ADCY4	196883	broad.mit.edu	37	chr14	24787935	24787935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccaaatgtcatattgCggcttctgggccccaataac	9	11	8	13	1	2	0	1	0	1	0	2	0	2	0	4	2	3	1	4	2	4	5			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000554068.2_Silent_p.P1002P|ADCY4_ENST00000418030.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTCATATTGCGGCTTCTGGG	0.522													T	24787935	C	T	24787935	2	4	685	1	0	0	0	0	0	0	0	1	296	755	27	1		1	ADCY4	14	24787935	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		24787935	82561605	19	53497											
NEO1	4756	broad.mit.edu	37	chr15	73418781	73418781	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgaggtgatatcagacttgGtatttttgaaacagccttct	10	15	9	7	0	2	4	1	3	1	1	2	4	2	4	1	2	2	1	1	2	3	6			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr15:73418781G>A	ENST00000339362.5	+	5	1195	c.748G>A	c.(748-750)Gta>Ata	p.V250I	NEO1_ENST00000558964.1_Missense_Mutation_p.V250I|NEO1_ENST00000261908.6_Missense_Mutation_p.V250I|NEO1_ENST00000560262.1_Missense_Mutation_p.V250I			Q92859	NEO1_HUMAN	neogenin 1	250	Ig-like C2-type 3.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						ATCAGACTTGGTATTTTTGAA	0.388													A	73418781	G	A	73418781	3	1	685	1	0	0	0	0	1	0	0	0	10412	1261	44	2	762	2	NEO1	15	73418781	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		73418781	29112611	20	53498											
MBTPS1	8720	broad.mit.edu	37	chr16	84104317	84104317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgaccaaggccataagaccGaggagtaggagaaggcaact	15	3	13	10	2	0	2	0	0	0	2	0	6	0	3	4	4	1	2	4	4	5	2	rs140684387		TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr16:84104317G>A	ENST00000343411.3	-	13	2153	c.1658C>T	c.(1657-1659)tCg>tTg	p.S553L		NM_003791.2	NP_003782.1	Q14703	MBTP1_HUMAN	membrane-bound transcription factor peptidase, site 1	553					cholesterol metabolic process|proteolysis	endoplasmic reticulum lumen|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(10)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41						CCATAAGACCGAGGAGTAGGA	0.512													A	84104317	G	A	84104317	3	1	685	1	0	0	0	0	1	0	0	0	9436	1059	37	1	1544	1	MBTPS1	16	84104317	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		84104317	6250436	21	53499											
EVPL	2125	broad.mit.edu	37	chr17	74004207	74004207	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatggggacatgtccttcccCgtctcgggttccaggatgga	6	11	13	11	2	1	0	0	0	1	0	5	3	4	3	4	5	0	1	4	5	1	3			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr17:74004207C>T	ENST00000301607.3	-	22	5332	c.5079G>A	c.(5077-5079)acG>acA	p.T1693T	EVPL_ENST00000586740.1_Silent_p.T1715T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1693	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGTCCTTCCCCGTCTCGGGTT	0.617													T	74004207	C	T	74004207	2	4	685	1	0	0	0	0	0	0	0	1	5333	639	23	1		1	EVPL	17	74004207	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		74004207	7191003	22	53500											
OR10H5	284433	broad.mit.edu	37	chr19	15905218	15905218	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgctcactgtcatgggctaCgaccgctacgtggccatctg	6	10	11	14	3	3	0	2	0	1	0	3	1	3	0	2	2	3	3	2	2	2	2			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:15905218C>T	ENST00000308940.8	+	1	458	c.360C>T	c.(358-360)taC>taT	p.Y120Y		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						TCATGGGCTACGACCGCTACG	0.642													T	15905218	C	T	15905218	2	4	685	1	0	0	0	0	0	0	0	1	10985	547	19	1		1	OR10H5	19	15905218	Silent	SNP	C	TCGA-RY-A83X-01A-11D-A36O-08		15905218	43223765	23	53501											
CIC	23152	broad.mit.edu	37	chr19	42795089	42795089	+	Frame_Shift_Del	DEL	G	G	-																															gtgcctgggggctccccgctGggtgtcagcttagtgtattc																										TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chr19:42795089delG	ENST00000572681.2	+	11	4964	c.4896delG	c.(4894-4896)ctgfs	p.L1632fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.L723fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.L723fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	723					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTCCCCGCTGGGTGTCAGCT	0.652			"Mis, F, S"		oligodendroglioma								-	42795089	G	-	42795089	7	5	685	1	0	1	0	1	0	0	0	0	3454	1335	47	0	2207	0	CIC	19	42795089	Frame_Shift_Del	DEL	G	TCGA-RY-A83X-01A-11D-A36O-08	26889871	42795089	16333894	24	53502											
FAM9C	171484	broad.mit.edu	37	chrX	13061059	13061059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaatatcttctagctccttGgtatcaaccctgtaacaaaa	13	12	5	11	0	3	0	1	0	2	0	4	0	4	0	2	1	3	4	2	1	8	6			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:13061059G>A	ENST00000542843.1	-	4	402	c.192C>T	c.(190-192)acC>acT	p.T64T	FAM9C_ENST00000333995.3_Silent_p.T64T|FAM9C_ENST00000380625.3_Silent_p.T64T			Q8IZT9	FAM9C_HUMAN	family with sequence similarity 9, member C	64						nucleus				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|upper_aerodigestive_tract(1)	5						CTAGCTCCTTGGTATCAACCC	0.348													A	13061059	G	A	13061059	2	1	685	1	0	0	0	0	0	0	0	1	5710	1335	47	2		2	FAM9C	23	13061059	Silent	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08		13061059	142209501	25	53503											
DACH2	117154	broad.mit.edu	37	chrX	85404019	85404019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcaggtccggatcctccGcgggctgggggccatccagc	5	6	16	14	3	0	1	0	1	0	0	4	2	4	2	5	5	2	2	5	5	0	0			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:85404019G>A	ENST00000373131.1	+	1	558	c.395G>A	c.(394-396)cGc>cAc	p.R132H	DACH2_ENST00000373125.4_Missense_Mutation_p.R132H	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)	132	DACHbox-N.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CGGATCCTCCGCGGGCTGGGG	0.567													A	85404019	G	A	85404019	3	1	685	1	0	0	0	0	1	0	0	0	4255	1087	38	1	397	1	DACH2	23	85404019	Missense_Mutation	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	72342960	85404019	69866541	26	53504											
PHF6	84295	broad.mit.edu	37	chrX	133511650	133511650	+	Translation_Start_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaggcaatttaaaaatcatGtcaagctcagttgaacagaa	19	9	7	6	0	3	2	3	1	0	1	3	2	3	2	0	1	2	3	0	1	8	3			TCGA-RY-A83X-01A-11D-A36O-08	TCGA-RY-A83X-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ae5ee5e5-80f2-44c6-b33d-35ef309c9ba3	519730cf-646f-4305-bb34-d96cf0de58d9	g.chrX:133511650G>C	ENST00000332070.3	+	2	205	c.3G>C	c.(1-3)atG>atC	p.M1I	PHF6_ENST00000370803.3_Start_Codon_SNP_p.M1I|PHF6_ENST00000394292.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370799.1_Start_Codon_SNP_p.M1I|PHF6_ENST00000370800.4_Start_Codon_SNP_p.M1I|PHF6_ENST00000416404.2_Start_Codon_SNP_p.M1I	NM_032458.2	NP_115834.1	Q8IWS0	PHF6_HUMAN	PHD finger protein 6	1					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus	zinc ion binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(88)|kidney(2)|large_intestine(1)|liver(1)|lung(6)|ovary(1)|skin(1)|urinary_tract(1)	103	Acute lymphoblastic leukemia(192;0.000127)					TAAAAATCATGTCAAGCTCAG	0.343			"F, N, Splice, Mis"		ETP ALL								C	133511650	G	C	133511650	1	2	685	1	0	0	0	0	0	0	0	0	11915	1377	48	4		4	PHF6	23	133511650	Translation_Start_Site	SNP	G	TCGA-RY-A83X-01A-11D-A36O-08	48107631	133511650	21758910	27	53505											
FBXO2	26232	broad.mit.edu	37	chr1	11710604	11710604	+	Frame_Shift_Del	DEL	C	C	-																															ccagtggtcgcgctcctcctCcacgccgccctcgggcacca																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:11710604delC	ENST00000354287.4	-	2	651	c.310delG	c.(310-312)gagfs	p.E106fs		NM_012168.5	NP_036300.2	Q9UK22	FBX2_HUMAN	F-box protein 2	106					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)		CGCTCCTCCTCCACGCCGCCC	0.697													-	11710604	C	-	11710604	7	5	686	1	0	1	0	1	0	0	0	0	5781	864	30	0	600	0	FBXO2	1	11710604	Frame_Shift_Del	DEL	C	TCGA-RY-A83Y-01A-11D-A36O-08		11710604	237540017	1	53506											
CDKN2C	1031	broad.mit.edu	37	chr1	51439739	51439739	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttaacatcgaggataatGaagggaacctgcccttgcac	13	9	10	9	1	0	1	0	1	0	0	1	4	0	3	2	2	4	2	2	2	4	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:51439739G>T	ENST00000262662.1	+	4	2338	c.304G>T	c.(304-306)Gaa>Taa	p.E102*	CDKN2C_ENST00000396148.1_Nonsense_Mutation_p.E102*|CDKN2C_ENST00000371761.3_Nonsense_Mutation_p.E102*			P42773	CDN2C_HUMAN	cyclin-dependent kinase inhibitor 2C (p18, inhibits CDK4)	102					cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|regulation of cyclin-dependent protein kinase activity	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|protein kinase binding	p.0?(11)|p.?(1)		central_nervous_system(8)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|thyroid(1)	23				GBM - Glioblastoma multiforme(3;3.61e-13)|all cancers(3;0.00151)		CGAGGATAATGAAGGGAACCT	0.532			D		"glioma, MM"								T	51439739	G	T	51439739	4	4	686	1	0	0	0	0	0	1	0	0	3195	1291	45	4	310	4	CDKN2C	1	51439739	Nonsense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	39729135	51439739	197810882	2	53507											
FUBP1	8880	broad.mit.edu	37	chr1	78429797	78429797	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcagcatgttgacatcGgtctggaggtcctgttattt	6	16	11	8	1	2	1	0	1	2	0	4	2	3	2	1	3	2	4	1	3	1	4			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:78429797G>A	ENST00000370767.1	-	12	1078	c.991C>T	c.(991-993)Cga>Tga	p.R331*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.R352*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.R331*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	331	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGTTGACATCGGTCTGGAGGT	0.323			"F, N"		oligodendroglioma								A	78429797	G	A	78429797	4	1	686	1	0	0	0	0	0	1	0	0	6144	1124	39	1	979	1	FUBP1	1	78429797	Nonsense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	26990058	78429797	170820824	3	53508											
HAO2	51179	broad.mit.edu	37	chr1	119934802	119934802	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacctggatggcggggtcCgaactggcaatgatgtgctg	7	10	15	9	2	1	1	0	1	1	0	2	3	2	2	2	5	3	2	2	5	3	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr1:119934802C>T	ENST00000361035.4	+	7	1163	c.880C>T	c.(880-882)Cga>Tga	p.R294*	HAO2_ENST00000325945.3_Nonsense_Mutation_p.R281*			Q9NYQ3	HAOX2_HUMAN	hydroxyacid oxidase 2 (long chain)	281	FMN hydroxy acid dehydrogenase.			LGA -> HED (in Ref. 2; AAF14000).	fatty acid alpha-oxidation	peroxisome	(S)-2-hydroxy-acid oxidase activity	p.R281*(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	30	all_neural(166;0.187)	all_lung(203;1.06e-06)|Lung NSC(69;7.5e-06)|all_epithelial(167;0.000284)		Lung(183;0.0155)|LUSC - Lung squamous cell carcinoma(189;0.0856)		TGGCGGGGTCCGAACTGGCAA	0.527													T	119934802	C	T	119934802	4	4	686	1	0	0	0	0	0	1	0	0	7007	644	23	1	859	1	HAO2	1	119934802	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	41505005	119934802	129315819	4	53509											
ARHGAP25	9938	broad.mit.edu	37	chr2	69046419	69046419	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgccactgaagacctcCgaatttctaggacagacagc	12	7	11	11	1	1	3	0	1	1	2	2	6	2	5	3	2	2	0	3	2	3	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:69046419C>T	ENST00000295381.3	+	9	1584	c.1165C>T	c.(1165-1167)Cga>Tga	p.R389*	ARHGAP25_ENST00000409030.3_Nonsense_Mutation_p.R382*|ARHGAP25_ENST00000409202.3_Nonsense_Mutation_p.R390*|ARHGAP25_ENST00000409220.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000479844.1_Nonsense_Mutation_p.R83*|ARHGAP25_ENST00000497079.1_Nonsense_Mutation_p.R383*|ARHGAP25_ENST00000467265.1_Nonsense_Mutation_p.R350*	NM_001007231.2	NP_001007232.2	P42331	RHG25_HUMAN	Rho GTPase activating protein 25	389					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			breast(3)|endometrium(5)|kidney(2)|large_intestine(11)|lung(20)|ovary(3)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	52						TGAAGACCTCCGAATTTCTAG	0.532													T	69046419	C	T	69046419	4	4	686	1	0	0	0	0	0	1	0	0	877	644	23	1	1242	1	ARHGAP25	2	69046419	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		69046419	174152954	5	53510											
CCT7	10574	broad.mit.edu	37	chr2	73474935	73474936	+	Frame_Shift_Ins	INS	-	-	AA																															attcaagaagactttctcttINSacgctgggtttgaaatgcaa																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:73474935_73474936insAA	ENST00000539919.1	+	8	903_904	c.532_533insAA	c.(532-534)tacfs	p.Y178fs	CCT7_ENST00000540468.1_Frame_Shift_Ins_p.Y135fs|CCT7_ENST00000538797.1_Frame_Shift_Ins_p.Y94fs|CCT7_ENST00000398422.2_Frame_Shift_Ins_p.Y18fs|CCT7_ENST00000258091.5_Frame_Shift_Ins_p.Y222fs|CCT7_ENST00000537131.1_Frame_Shift_Ins_p.Y122fs|CCT7_ENST00000473786.1_3'UTR	NM_001166285.1	NP_001159757.1	Q99832	TCPH_HUMAN	chaperonin containing TCP1, subunit 7 (eta)	222					'de novo' posttranslational protein folding		ATP binding|unfolded protein binding			breast(1)|cervix(1)|endometrium(1)|lung(3)|stomach(1)	7						GACTTTCTCTTACGCTGGGTTT	0.381													AA	73474936	-	AA	73474935	7	5	686	1	0	1	1	0	0	0	0	0	2989	1754	61	0	690	0	CCT7	2	73474935	Frame_Shift_Ins	INS	-	TCGA-RY-A83Y-01A-11D-A36O-08	4428516	73474935	169724438	6	53511											
TTN	7273	broad.mit.edu	37	chr2	179463526	179463526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagacttgctggacccaCgccagcagcattgattgcat	9	9	11	12	1	0	2	0	1	0	1	0	3	0	3	2	2	4	5	2	2	0	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr2:179463526C>T	ENST00000589042.1	-	291	57135	c.56911G>A	c.(56911-56913)Gtg>Atg	p.V18971M	TTN_ENST00000342992.6_Missense_Mutation_p.V16403M|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V10098M|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V17330M|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V10031M|TTN_ENST00000460472.2_Missense_Mutation_p.V9906M|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	17330	Fibronectin type-III 37.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCTGGACCCACGCCAGCAGCA	0.428													T	179463526	C	T	179463526	3	4	686	1	0	0	0	0	1	0	0	0	16837	536	19	1	51070	1	TTN	2	179463526	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	105988591	179463526	63735847	7	53512											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	686	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	29649586	209113112	34086261	8	53513											
KIF15	56992	broad.mit.edu	37	chr3	44879796	44879796	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtgaggacctggctcaTgccactgagcagctgaacat	9	9	11	12	0	2	3	1	3	1	0	2	4	2	4	2	2	4	3	2	2	1	0			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr3:44879796T>C	ENST00000326047.4	+	27	3350	c.3201T>C	c.(3199-3201)caT>caC	p.H1067H	KIF15_ENST00000425755.1_Silent_p.H702H	NM_020242.2	NP_064627.1	Q9NS87	KIF15_HUMAN	kinesin family member 15	1067					blood coagulation|cell proliferation|microtubule-based movement|mitosis	centrosome|cytosol|microtubule|plus-end kinesin complex|spindle	ATP binding|DNA binding|microtubule motor activity			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|liver(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(5)	36				BRCA - Breast invasive adenocarcinoma(193;0.0099)|KIRC - Kidney renal clear cell carcinoma(197;0.0564)|Kidney(197;0.0707)		ACCTGGCTCATGCCACTGAGC	0.468													C	44879796	T	C	44879796	2	2	686	1	0	0	0	0	0	0	0	1	8335	1461	51	3		3	KIF15	3	44879796	Silent	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		44879796	153142634	9	53514											
MYL5	4636	broad.mit.edu	37	chr4	672778	672778	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	catggatcagaaccgagatgGcttcattgacaaggaggacc	13	7	12	9	1	2	3	2	1	0	2	2	7	2	6	2	4	1	1	2	4	2	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:672778G>C	ENST00000506838.1	+	4	2544	c.20G>C	c.(19-21)gGc>gCc	p.G7A	MYL5_ENST00000505477.1_Missense_Mutation_p.G7A|MYL5_ENST00000511290.1_Missense_Mutation_p.G7A|MYL5_ENST00000400159.2_Missense_Mutation_p.G48A			Q02045	MYL5_HUMAN	myosin, light chain 5, regulatory	48					regulation of muscle contraction	muscle myosin complex	calcium ion binding|structural constituent of muscle			endometrium(1)|kidney(1)|lung(1)	3						AACCGAGATGGCTTCATTGAC	0.627													C	672778	G	C	672778	3	2	686	1	0	0	0	0	1	0	0	0	10126	1203	42	4	153	4	MYL5	4	672778	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		672778	190481498	10	53515											
PCDH7	5099	broad.mit.edu	37	chr4	30921804	30921804	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtgacgttttctgttgtGagtcagcctcaggacccaca	9	11	11	10	1	3	3	2	2	1	1	3	4	3	4	2	1	1	2	2	1	0	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:30921804G>A	ENST00000543491.1	+	2	3204	c.3204G>A	c.(3202-3204)gtG>gtA	p.V1068V	PCDH7_ENST00000509925.1_3'UTR			O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TTTCTGTTGTGAGTCAGCCTC	0.428													A	30921804	G	A	30921804	2	1	686	1	0	0	0	0	0	0	0	1	11592	1277	45	2		2	PCDH7	4	30921804	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	30249026	30921804	160232472	11	53516											
AGPAT9	84803	broad.mit.edu	37	chr4	84519288	84519288	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ttcgaatgatgaccagctggGccatcgtctgtgacgtgtgg	7	11	14	9	3	1	3	0	3	1	0	3	4	1	3	2	2	1	1	2	2	1	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr4:84519288G>A	ENST00000395226.2	+	11	1299	c.1081G>A	c.(1081-1083)Gcc>Acc	p.A361T	AGPAT9_ENST00000264409.4_Missense_Mutation_p.A361T	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	361					phospholipid biosynthetic process|regulation of TOR signaling cascade|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	glycerol-3-phosphate O-acyltransferase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				GACCAGCTGGGCCATCGTCTG	0.453													A	84519288	G	A	84519288	3	1	686	1	0	0	0	0	1	0	0	0	392	1203	42	2	1119	2	AGPAT9	4	84519288	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	53597484	84519288	106634988	12	53517											
NIPBL	25836	broad.mit.edu	37	chr5	37051937	37051937	+	Frame_Shift_Del	DEL	G	G	-																															gaacctgctatgcggaacaaGgctgatcagcaacttgtgga																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:37051937delG	ENST00000282516.8	+	41	7510	c.7011delG	c.(7009-7011)aagfs	p.K2337fs	NIPBL_ENST00000448238.2_Frame_Shift_Del_p.K2337fs	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	2337					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGCGGAACAAGGCTGATCAGC	0.318													-	37051937	G	-	37051937	7	5	686	1	0	1	0	1	0	0	0	0	10504	991	35	0	7169	0	NIPBL	5	37051937	Frame_Shift_Del	DEL	G	TCGA-RY-A83Y-01A-11D-A36O-08		37051937	143863323	13	53518											
ACSL6	23305	broad.mit.edu	37	chr5	131309076	131309076	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagccaacacgccctccGtggcaatagacgacagacta	15	4	9	13	3	0	3	0	0	0	3	1	4	1	3	3	1	2	1	3	1	6	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:131309076G>A	ENST00000379264.2	-	12	1194	c.1086C>T	c.(1084-1086)caC>caT	p.H362H	ACSL6_ENST00000544770.1_Silent_p.H246H|ACSL6_ENST00000379246.1_Silent_p.H348H|ACSL6_ENST00000379249.3_Silent_p.H337H|ACSL6_ENST00000379240.1_Silent_p.H337H|ACSL6_ENST00000379244.1_Silent_p.H337H|ACSL6_ENST00000379255.1_Intron|ACSL6_ENST00000357096.1_Intron|ACSL6_ENST00000296869.4_Silent_p.H362H|ACSL6_ENST00000543479.1_Silent_p.H337H|ACSL6_ENST00000379272.2_Silent_p.H352H|ACSL6_ENST00000431707.1_Silent_p.H317H	NM_001009185.2	NP_001009185.1	Q9UKU0	ACSL6_HUMAN	acyl-CoA synthetase long-chain family member 6	337					fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane|plasma membrane	ATP binding|long-chain fatty acid-CoA ligase activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	35		all_cancers(142;0.107)|Breast(839;0.198)|Lung NSC(810;0.216)|all_lung(232;0.248)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CACGCCCTCCGTGGCAATAGA	0.552													A	131309076	G	A	131309076	2	1	686	1	0	0	0	0	0	0	0	1	181	1136	40	1		1	ACSL6	5	131309076	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	94257139	131309076	49606184	14	53519											
PCDHA2	56146	broad.mit.edu	37	chr5	140176522	140176522	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaaggaccacggcgaaccagCgttgacagccacggccaccg	11	2	13	15	5	0	1	0	1	0	0	0	4	0	2	5	3	3	1	5	3	2	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:140176522C>T	ENST00000526136.1	+	1	1973	c.1973C>T	c.(1972-1974)gCg>gTg	p.A658V	PCDHA2_ENST00000378132.1_Missense_Mutation_p.A658V|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A658V|PCDHA1_ENST00000394633.3_Intron	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCGAACCAGCGTTGACAGCC	0.662													T	140176522	C	T	140176522	3	4	686	1	0	0	0	0	1	0	0	0	11600	768	27	1	1975	1	PCDHA2	5	140176522	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	8867446	140176522	40738738	15	53520											
FAM71B	153745	broad.mit.edu	37	chr5	156593091	156593091	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctcctctgttgtacaattgtCgttgcaggtcccccatggag	6	13	10	12	1	1	0	0	0	1	0	4	1	3	1	3	2	2	4	3	2	2	4			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:156593091C>T	ENST00000302938.4	-	1	184	c.89G>A	c.(88-90)cGa>cAa	p.R30Q		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	30						nucleus				NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GTACAATTGTCGTTGCAGGTC	0.403													T	156593091	C	T	156593091	3	4	686	1	0	0	0	0	1	0	0	0	5658	884	31	1	1736	1	FAM71B	5	156593091	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	16416569	156593091	24322169	16	53521											
LCP2	3937	broad.mit.edu	37	chr5	169695476	169695476	+	Frame_Shift_Del	DEL	G	G	-																															tgctggggggttttcccagaGgggggccggtctgtggaaac																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:169695476delG	ENST00000046794.5	-	8	1149	c.534delC	c.(532-534)cccfs	p.P178fs		NM_005565.3	NP_005556.1	Q13094	LCP2_HUMAN	lymphocyte cytosolic protein 2 (SH2 domain containing leukocyte protein of 76kDa)	178					immune response|platelet activation|T cell receptor signaling pathway|transmembrane receptor protein tyrosine kinase signaling pathway	cytosol	protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	23	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0109)|all_neural(177;0.0146)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	OV - Ovarian serous cystadenocarcinoma(192;0.247)		TTTTCCCAGAGGGGGGCCGGT	0.652											OREG0017023	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	169695476	G	-	169695476	7	5	686	1	0	1	0	1	0	0	0	0	8751	987	35	0	1123	0	LCP2	5	169695476	Frame_Shift_Del	DEL	G	TCGA-RY-A83Y-01A-11D-A36O-08	13102385	169695476	11219784	17	53522											
RPL26L1	51121	broad.mit.edu	37	chr5	172395514	172395514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggcaaggtagtccaggtgtAcagaaagaaatatgtcatct	14	10	11	6	0	2	2	1	0	1	2	3	2	3	2	1	3	1	3	1	3	6	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr5:172395514A>G	ENST00000521476.1	+	3	345	c.221A>G	c.(220-222)tAc>tGc	p.Y74C	RPL26L1_ENST00000519239.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000519974.1_Missense_Mutation_p.Y74C|RPL26L1_ENST00000265100.2_Missense_Mutation_p.Y74C			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	74					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			GTCCAGGTGTACAGAAAGAAA	0.478													G	172395514	A	G	172395514	3	3	686	1	0	0	0	0	1	0	0	0	13665	391	14	3	227	3	RPL26L1	5	172395514	Missense_Mutation	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08	2700038	172395514	8519746	18	53523											
MAN1A1	4121	broad.mit.edu	37	chr6	119510998	119510998	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggccccctttccactctgcGatataagttagtccgctgct	7	12	8	14	2	1	0	0	0	1	0	3	1	3	0	4	1	2	3	4	1	3	4			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:119510998G>A	ENST00000368468.3	-	10	1818	c.1377C>T	c.(1375-1377)atC>atT	p.I459I		NM_005907.3	NP_005898.2	P33908	MA1A1_HUMAN	mannosidase, alpha, class 1A, member 1	459					post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum|ER-Golgi intermediate compartment|Golgi membrane|integral to membrane|membrane fraction	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity	p.I459I(2)		central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|skin(3)	24		all_epithelial(87;0.173)		OV - Ovarian serous cystadenocarcinoma(136;0.0612)|GBM - Glioblastoma multiforme(226;0.0702)|all cancers(137;0.115)		TCCACTCTGCGATATAAGTTA	0.498													A	119510998	G	A	119510998	2	1	686	1	0	0	0	0	0	0	0	1	9285	1048	37	1		1	MAN1A1	6	119510998	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		119510998	51604069	19	53524											
HIVEP2	3097	broad.mit.edu	37	chr6	143091825	143091825	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtatctgagaaatgcttgTgtacatgacacttccatagg	13	12	9	7	0	1	2	0	2	1	1	2	3	2	2	1	1	2	3	1	1	5	5			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr6:143091825T>C	ENST00000367603.2	-	5	4793	c.4051A>G	c.(4051-4053)Aca>Gca	p.T1351A	HIVEP2_ENST00000012134.2_Missense_Mutation_p.T1351A|HIVEP2_ENST00000367604.1_Missense_Mutation_p.T1351A	NM_006734.3	NP_006725.3	P31629	ZEP2_HUMAN	human immunodeficiency virus type I enhancer binding protein 2	1351					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|breast(4)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(19)|lung(35)|ovary(4)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	100				OV - Ovarian serous cystadenocarcinoma(155;1.61e-05)|GBM - Glioblastoma multiforme(68;0.0102)		GAAATGCTTGTGTACATGACA	0.498													C	143091825	T	C	143091825	3	2	686	1	0	0	0	0	1	0	0	0	7242	1696	59	3	3313	3	HIVEP2	6	143091825	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	23580827	143091825	28023242	20	53525											
AUTS2	26053	broad.mit.edu	37	chr7	70231294	70231294	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccatcccacccaccgccAtcatgccgacgccagcacct	9	4	6	22	4	1	0	1	0	0	0	2	1	2	0	8	0	2	1	8	0	0	0			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:70231294A>G	ENST00000342771.4	+	9	1984	c.1663A>G	c.(1663-1665)Atc>Gtc	p.I555V	AUTS2_ENST00000406775.2_Missense_Mutation_p.I555V	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	555										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		ACCCACCGCCATCATGCCGAC	0.617													G	70231294	A	G	70231294	3	3	686	1	0	0	0	0	1	0	0	0	1230	217	8	3	1842	3	AUTS2	7	70231294	Missense_Mutation	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08		70231294	88907369	21	53526											
CHPF2	54480	broad.mit.edu	37	chr7	150932567	150932567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttggctacctgttgtcaCggagtctcctgcttcgtctg	3	15	11	12	2	3	0	1	0	2	0	5	1	3	1	2	2	2	4	2	2	1	4	rs56366346	by1000genomes	TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr7:150932567C>T	ENST00000035307.2	+	2	2210	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W	CHPF2_ENST00000495645.1_Missense_Mutation_p.R225W	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	233						Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CCTGTTGTCACGGAGTCTCCT	0.602													T	150932567	C	T	150932567	3	4	686	1	0	0	0	0	1	0	0	0	3399	527	19	1	703	1	CHPF2	7	150932567	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	80701273	150932567	8206096	22	53527											
UBE2W	55284	broad.mit.edu	37	chr8	74737473	74737473	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctggtgcaccttccatgTctacaatccacctagaatag	11	11	6	13	0	1	1	0	0	1	1	3	1	3	1	5	1	3	1	5	1	6	5			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:74737473T>C	ENST00000517608.1	-	3	206	c.206A>G	c.(205-207)gAc>gGc	p.D69G	UBE2W_ENST00000602593.1_Missense_Mutation_p.D40G|UBE2W_ENST00000602969.1_Missense_Mutation_p.D51G|UBE2W_ENST00000453587.2_Missense_Mutation_p.D40G|UBE2W_ENST00000419880.3_Missense_Mutation_p.D80G|RP11-463D19.2_ENST00000358757.5_Missense_Mutation_p.D40G	NM_018299.4	NP_060769.4	Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	40					protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			ACCTTCCATGTCTACAATCCA	0.373													C	74737473	T	C	74737473	3	2	686	1	0	0	0	0	1	0	0	0	16979	1667	58	3	352	3	UBE2W	8	74737473	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		74737473	71626549	23	53528											
ZFHX4	79776	broad.mit.edu	37	chr8	77761931	77761931	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gtgtgtctccagactgtgtgGagaagctgcttatgacagta	9	12	13	7	0	1	3	0	1	1	2	2	4	1	3	1	1	2	3	1	1	3	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr8:77761931G>C	ENST00000521891.2	+	8	4277	c.3829G>C	c.(3829-3831)Gag>Cag	p.E1277Q	ZFHX4_ENST00000518282.1_Missense_Mutation_p.E1251Q|ZFHX4_ENST00000455469.2_Missense_Mutation_p.E1232Q|ZFHX4_ENST00000050961.6_Missense_Mutation_p.E1232Q	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1232						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			AGACTGTGTGGAGAAGCTGCT	0.428										HNSCC(33;0.089)			C	77761931	G	C	77761931	3	2	686	1	0	0	0	0	1	0	0	0	17736	1175	41	4	3855	4	ZFHX4	8	77761931	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	3024458	77761931	68602091	24	53529											
ZBTB5	9925	broad.mit.edu	37	chr9	37440681	37440682	+	Frame_Shift_Del	DEL	AG	AG	-																															tcttgcaatctgtcaaagtcAgaaaagttttgcagcagatt																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:37440681_37440682delAG	ENST00000307750.4	-	2	2055_2056	c.1867_1868delCT	c.(1867-1869)ctgfs	p.L623fs		NM_014872.2	NP_055687.1	O15062	ZBTB5_HUMAN	zinc finger and BTB domain containing 5	623					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	8				GBM - Glioblastoma multiforme(29;0.00733)|Lung(182;0.226)		TGTCAAAGTCAGAAAAGTTTTG	0.47													-	37440682	AG	-	37440681	7	5	686	1	0	1	0	1	0	0	0	0	17652	188	7	0	169	0	ZBTB5	9	37440681	Frame_Shift_Del	DEL	AG	TCGA-RY-A83Y-01A-11D-A36O-08		37440681	103772750	25	53530											
TDRD7	23424	broad.mit.edu	37	chr9	100204054	100204054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actaaacaagcataacaatgGcatttggatatctaagcttc	16	11	6	8	0	1	0	0	0	1	0	2	1	1	1	0	2	4	3	0	2	7	6			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr9:100204054G>A	ENST00000355295.4	+	6	1047	c.752G>A	c.(751-753)gGc>gAc	p.G251D	TDRD7_ENST00000422139.2_Missense_Mutation_p.G177D	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	251	Lotus/OST-HTH 2.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				CATAACAATGGCATTTGGATA	0.343													A	100204054	G	A	100204054	3	1	686	1	0	0	0	0	1	0	0	0	15835	1203	42	2	770	2	TDRD7	9	100204054	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	62763373	100204054	41009377	26	53531											
PLEKHG6	55200	broad.mit.edu	37	chr12	6425456	6425456	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtttggaaatgtccccagCctgattcgaacccaccggag	9	9	10	13	2	0	1	0	1	0	0	2	4	1	3	5	2	2	1	5	2	2	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:6425456C>T	ENST00000449001.2	+	6	1040	c.546C>T	c.(544-546)agC>agT	p.S182S	PLEKHG6_ENST00000396988.3_Silent_p.S214S|PLEKHG6_ENST00000536531.1_Silent_p.S214S|PLEKHG6_ENST00000011684.7_Silent_p.S214S	NM_001144857.1	NP_001138329.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	214	DH.				regulation of Rho protein signal transduction	cleavage furrow|cytoplasm|spindle pole	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						ATGTCCCCAGCCTGATTCGAA	0.622													T	6425456	C	T	6425456	2	4	686	1	0	0	0	0	0	0	0	1	12151	738	26	2		2	PLEKHG6	12	6425456	Silent	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		6425456	127426439	27	53532											
KRT75	9119	broad.mit.edu	37	chr12	52826917	52826917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctttccagctgccgtcggagCtcactggtataggaatcaaa	10	10	10	11	2	2	0	2	0	0	0	4	2	3	2	2	3	3	3	2	3	4	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:52826917C>T	ENST00000252245.5	-	2	838	c.618G>A	c.(616-618)gaG>gaA	p.E206E		NM_004693.2	NP_004684.2	O95678	K2C75_HUMAN	keratin 75	206	Coil 1B.|Rod.					keratin filament	structural molecule activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(10)|prostate(1)|skin(1)	28				BRCA - Breast invasive adenocarcinoma(357;0.192)		GCCGTCGGAGCTCACTGGTAT	0.552													T	52826917	C	T	52826917	2	4	686	1	0	0	0	0	0	0	0	1	8546	796	28	2		2	KRT75	12	52826917	Silent	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	46401461	52826917	81024978	28	53533											
ATP5B	506	broad.mit.edu	37	chr12	57037371	57037371	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccagcaccaccaaaaagcCctataagaggttgaaaagaa	18	5	7	11	0	0	3	0	1	0	2	1	3	1	3	4	1	2	2	4	1	7	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr12:57037371C>T	ENST00000262030.3	-	5	658	c.608G>A	c.(607-609)gGg>gAg	p.G203E	ATP5B_ENST00000552919.1_Splice_Site_p.G203E	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	203					angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCAAAAAGCCCTATAAGAGG	0.393													T	57037371	C	T	57037371	5	4	686	1	0	0	0	0	0	0	1	0	1153	637	22	2	1005	2	ATP5B	12	57037371	Splice_Site	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	4210454	57037371	76814524	29	53534											
PYGL	5836	broad.mit.edu	37	chr14	51382685	51382685	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttctgggtgagctccCatgcctgggggaaaggaagg	8	8	17	8	0	2	1	0	1	2	0	3	3	3	3	2	6	2	1	2	6	2	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr14:51382685C>T	ENST00000216392.7	-	10	1429	c.1097G>A	c.(1096-1098)tGg>tAg	p.W366*	PYGL_ENST00000532462.1_Nonsense_Mutation_p.W366*|PYGL_ENST00000544180.2_Nonsense_Mutation_p.W332*	NM_002863.4	NP_002854.3	P06737	PYGL_HUMAN	phosphorylase, glycogen, liver	366					glucose homeostasis|glucose metabolic process|glycogen catabolic process	cytosol|soluble fraction	AMP binding|ATP binding|bile acid binding|drug binding|glucose binding|glycogen phosphorylase activity|protein homodimerization activity|purine base binding|pyridoxal phosphate binding			NS(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(8)|prostate(1)|skin(3)	25	all_epithelial(31;0.00825)|Breast(41;0.148)				Adenosine monophosphate(DB00131)|Pyridoxal Phosphate(DB00114)|Riboflavin(DB00140)	GGTGAGCTCCCATGCCTGGGG	0.632													T	51382685	C	T	51382685	4	4	686	1	0	0	0	0	0	1	0	0	12949	595	21	2	1490	2	PYGL	14	51382685	Nonsense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08		51382685	55966855	30	53535											
RASGRP1	10125	broad.mit.edu	37	chr15	38793398	38793398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtaggtggtctcttggaaGttgtgaggaaagcccaggcc	9	9	16	7	0	1	1	0	1	1	0	2	3	1	3	2	6	1	2	2	6	3	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:38793398G>T	ENST00000310803.5	-	13	1806	c.1629C>A	c.(1627-1629)aaC>aaA	p.N543K	RASGRP1_ENST00000450598.2_Missense_Mutation_p.N508K|RASGRP1_ENST00000539159.1_Missense_Mutation_p.N495K|RASGRP1_ENST00000558164.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000559830.1_Missense_Mutation_p.N508K|RASGRP1_ENST00000561180.1_Missense_Mutation_p.N594K	NM_001128602.1|NM_005739.3	NP_001122074.1|NP_005730.2	O95267	GRP1_HUMAN	RAS guanyl releasing protein 1 (calcium and DAG-regulated)	543					cell differentiation|platelet activation|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol|endoplasmic reticulum membrane|Golgi membrane|membrane fraction|plasma membrane	calcium ion binding|guanyl-nucleotide exchange factor activity|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	20		all_cancers(109;6.38e-17)|all_epithelial(112;5.51e-15)|Lung NSC(122;2.12e-11)|all_lung(180;5.63e-10)|Melanoma(134;0.0574)		GBM - Glioblastoma multiforme(113;1.97e-07)|BRCA - Breast invasive adenocarcinoma(123;0.00248)		TCTCTTGGAAGTTGTGAGGAA	0.522													T	38793398	G	T	38793398	3	4	686	1	0	0	0	0	1	0	0	0	13162	1020	36	4	784	4	RASGRP1	15	38793398	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08		38793398	63737994	31	53536											
MAPKBP1	23005	broad.mit.edu	37	chr15	42107938	42107938	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccgcgtgggcatccgctcGgtgtgtgtcagccccaatgg	4	8	14	15	4	1	0	1	0	0	0	3	0	2	0	5	3	1	2	5	3	1	0	rs143874014		TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42107938G>A	ENST00000457542.2	+	12	1720	c.1434G>A	c.(1432-1434)tcG>tcA	p.S478S	MAPKBP1_ENST00000514566.1_Silent_p.S478S|MAPKBP1_ENST00000456763.2_Silent_p.S484S|MAPKBP1_ENST00000221214.6_Silent_p.S361S|MAPKBP1_ENST00000260357.7_Silent_p.S317S	NM_014994.2	NP_055809.2	O60336	MABP1_HUMAN	mitogen-activated protein kinase binding protein 1	484										breast(6)|central_nervous_system(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	56		all_cancers(109;7.71e-14)|all_epithelial(112;5.15e-12)|Lung NSC(122;3.74e-08)|all_lung(180;1.81e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.95e-17)|GBM - Glioblastoma multiforme(94;5.71e-07)|Lung(196;0.0436)|BRCA - Breast invasive adenocarcinoma(123;0.203)|LUSC - Lung squamous cell carcinoma(244;0.225)		GCATCCGCTCGGTGTGTGTCA	0.597													A	42107938	G	A	42107938	2	1	686	1	0	0	0	0	0	0	0	1	9367	1103	39	1		1	MAPKBP1	15	42107938	Silent	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	3314540	42107938	60423454	32	53537											
PLA2G4E	123745	broad.mit.edu	37	chr15	42298316	42298316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacactcaactctagcaCgttctaggggagaaggaagg	14	6	12	9	1	3	2	1	0	2	2	3	4	3	3	0	4	2	2	0	4	5	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:42298316C>T	ENST00000399518.3	-	4	883	c.397G>A	c.(397-399)Gtg>Atg	p.V133M	PLA2G4E_ENST00000413860.2_Missense_Mutation_p.V104M	NM_001206670.1	NP_001193599.1	Q3MJ16	PA24E_HUMAN	phospholipase A2, group IVE	115	C2.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(1)|stomach(1)	16		all_cancers(109;8.09e-13)|all_epithelial(112;2.03e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.0273)		OV - Ovarian serous cystadenocarcinoma(18;7.61e-18)|GBM - Glioblastoma multiforme(94;3.07e-06)		AACTCTAGCACGTTCTAGGGG	0.507													T	42298316	C	T	42298316	3	4	686	1	0	0	0	0	1	0	0	0	12082	536	19	1	2277	1	PLA2G4E	15	42298316	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	190378	42298316	60233076	33	53538											
SEMA7A	8482	broad.mit.edu	37	chr15	74708176	74708176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aacaccatagaccctggtgtCcctccactggccgctggggt	7	8	11	15	1	0	1	0	0	0	1	2	1	2	1	5	4	1	1	5	4	2	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:74708176C>T	ENST00000261918.4	-	8	1500	c.952G>A	c.(952-954)Gac>Aac	p.D318N	SEMA7A_ENST00000543145.2_Missense_Mutation_p.D304N|SEMA7A_ENST00000542748.1_Missense_Mutation_p.D153N	NM_003612.3	NP_003603.1	O75326	SEM7A_HUMAN	semaphorin 7A, GPI membrane anchor (John Milton Hagen blood group)	318	Sema.				axon guidance|immune response|inflammatory response|integrin-mediated signaling pathway|positive regulation of axon extension|positive regulation of ERK1 and ERK2 cascade|positive regulation of macrophage cytokine production|regulation of inflammatory response	anchored to membrane|external side of plasma membrane	receptor activity			breast(3)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(3)|lung(12)|upper_aerodigestive_tract(1)	30						ACCCTGGTGTCCCTCCACTGG	0.592													T	74708176	C	T	74708176	3	4	686	1	0	0	0	0	1	0	0	0	14136	855	30	2	1076	2	SEMA7A	15	74708176	Missense_Mutation	SNP	C	TCGA-RY-A83Y-01A-11D-A36O-08	32409860	74708176	27823216	34	53539											
NTRK3	4916	broad.mit.edu	37	chr15	88576211	88576211	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgacgagggcgtggtgaTgccgtggttgatgtggtgca	6	10	19	6	3	0	3	0	3	0	0	0	4	0	3	1	4	2	2	1	4	0	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr15:88576211T>C	ENST00000394480.2	-	14	1783	c.1462A>G	c.(1462-1464)Atc>Gtc	p.I488V	NTRK3_ENST00000355254.2_Missense_Mutation_p.I488V|NTRK3_ENST00000317501.3_Missense_Mutation_p.I488V|NTRK3_ENST00000558676.1_Missense_Mutation_p.I480V|NTRK3_ENST00000542733.2_Missense_Mutation_p.I390V|NTRK3_ENST00000557856.1_Missense_Mutation_p.I480V|NTRK3_ENST00000357724.2_Missense_Mutation_p.I480V|NTRK3_ENST00000360948.2_Missense_Mutation_p.I488V|NTRK3_ENST00000558306.1_5'UTR|NTRK3_ENST00000540489.2_Missense_Mutation_p.I488V	NM_001243101.1|NM_002530.3	NP_001230030.1|NP_002521.2	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3						transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity		ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			GGCGTGGTGATGCCGTGGTTG	0.607			T	ETV6	"congenital fibrosarcoma, Secretory breast "					TSP Lung(13;0.10)			C	88576211	T	C	88576211	3	2	686	1	0	0	0	0	1	0	0	0	10784	1464	51	3	1347	3	NTRK3	15	88576211	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	13868035	88576211	13955181	35	53540											
OR1G1	8390	broad.mit.edu	37	chr17	3029996	3029996	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtagataaagggattcaacaTtggagttaccactgtgtaca	14	11	10	6	0	1	1	1	0	0	1	1	3	1	3	1	2	3	3	1	2	6	6			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:3029996T>C	ENST00000328890.2	-	1	879	c.850A>G	c.(850-852)Atg>Gtg	p.M284V		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	284					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						GGATTCAACATTGGAGTTACC	0.428													C	3029996	T	C	3029996	3	2	686	1	0	0	0	0	1	0	0	0	11033	1493	52	3	95	3	OR1G1	17	3029996	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08		3029996	78165214	36	53541											
KIAA0753	9851	broad.mit.edu	37	chr17	6524258	6524259	+	Frame_Shift_Del	DEL	CA	CA	-																															aggaaatctgctccgaatttCactgaaacattttttcacct																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:6524258_6524259delCA	ENST00000361413.3	-	7	1522_1523	c.1164_1165delTG	c.(1162-1167)agtgaafs	p.SE388fs	KIAA0753_ENST00000542606.1_Frame_Shift_Del_p.SE89fs|KIAA0753_ENST00000572370.1_Frame_Shift_Del_p.SE89fs	NM_014804.2	NP_055619.2	Q2KHM9	K0753_HUMAN	KIAA0753	388						centrosome				endometrium(4)|large_intestine(11)|lung(5)|prostate(4)	24				COAD - Colon adenocarcinoma(228;0.157)		CTCCGAATTTCACTGAAACATT	0.441													-	6524259	CA	-	6524258	7	5	686	1	0	1	0	1	0	0	0	0	8249	835	29	0	1790	0	KIAA0753	17	6524258	Frame_Shift_Del	DEL	CA	TCGA-RY-A83Y-01A-11D-A36O-08	3494262	6524258	74670952	37	53542											
KLHL10	317719	broad.mit.edu	37	chr17	40001799	40001799	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagaaaacttggcatcaggTggccccgatgcactccagac	12	6	10	13	1	1	2	1	0	0	2	2	3	2	2	3	3	2	2	3	3	3	1			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:40001799T>C	ENST00000293303.4	+	3	1259	c.1106T>C	c.(1105-1107)gTg>gCg	p.V369A		NM_152467.3	NP_689680.2	Q6JEL2	KLH10_HUMAN	kelch-like family member 10	369						cytoplasm				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	26		Breast(137;0.000162)				TGGCATCAGGTGGCCCCGATG	0.438													C	40001799	T	C	40001799	3	2	686	1	0	0	0	0	1	0	0	0	8424	1696	59	3	1116	3	KLHL10	17	40001799	Missense_Mutation	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	33477541	40001799	41193411	38	53543											
SMARCD2	6603	broad.mit.edu	37	chr17	61911857	61911857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgatccagcatgagcaggaGggtgcacttgacgttgaggt	10	9	15	7	1	0	4	0	4	0	0	1	5	1	5	1	3	3	4	1	3	0	2			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:61911857G>A	ENST00000448276.2	-	7	1163	c.898C>T	c.(898-900)Ctc>Ttc	p.L300F	SMARCD2_ENST00000225742.9_Missense_Mutation_p.L225F|SMARCD2_ENST00000323347.10_Missense_Mutation_p.L252F	NM_001098426.1	NP_001091896.1	Q92925	SMRD2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 2	300					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	SWI/SNF complex	protein binding|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)	8						ATGAGCAGGAGGGTGCACTTG	0.602											OREG0024642	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	61911857	G	A	61911857	3	1	686	1	0	0	0	0	1	0	0	0	14872	1000	35	2	725	2	SMARCD2	17	61911857	Missense_Mutation	SNP	G	TCGA-RY-A83Y-01A-11D-A36O-08	21910058	61911857	19283353	39	53544											
CASKIN2	57513	broad.mit.edu	37	chr17	73498194	73498194	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccgcttaacagtgtcTgattccgtgaggttgaaatc	8	12	11	10	2	1	3	0	3	1	0	4	3	3	3	3	2	1	2	3	2	2	3			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr17:73498194T>C	ENST00000321617.3	-	18	3547	c.2961A>G	c.(2959-2961)tcA>tcG	p.S987S	CASKIN2_ENST00000433559.2_Silent_p.S905S	NM_020753.3	NP_065804.2	Q8WXE0	CSKI2_HUMAN	CASK interacting protein 2	987	Pro-rich.					cytoplasm				endometrium(1)|kidney(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	18	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;4.57e-07)|Epithelial(20;2.92e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			TAACAGTGTCTGATTCCGTGA	0.677													C	73498194	T	C	73498194	2	2	686	1	0	0	0	0	0	0	0	1	2693	1567	55	3		3	CASKIN2	17	73498194	Silent	SNP	T	TCGA-RY-A83Y-01A-11D-A36O-08	11586337	73498194	7697016	40	53545											
CIC	23152	broad.mit.edu	37	chr19	42794540	42794550	+	Frame_Shift_Del	DEL	TTCCTCCTCAG	TTCCTCCTCAG	-																															tcctctgcgtcctcgcctgcTtcctcctcagcctcggcagc																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr19:42794540_42794550delTTCCTCCTCAG	ENST00000572681.2	+	11	4415_4425	c.4347_4357delTTCCTCCTCAG	c.(4345-4359)gcttcctcctcagccfs	p.ASSSA1449fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.ASSSA540fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.ASSSA540fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	540					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTCGCCTGCTTCCTCCTCAGCCTCGGCAGC	0.687			"Mis, F, S"		oligodendroglioma								-	42794550	TTCCTCCTCAG	-	42794540	7	5	686	1	0	1	0	1	0	0	0	0	3454	1596	56	0	1658	0	CIC	19	42794540	Frame_Shift_Del	DEL	TTCCTCCTCAG	TCGA-RY-A83Y-01A-11D-A36O-08		42794540	16334443	41	53546											
FERMT1	55612	broad.mit.edu	37	chr20	6078223	6078223	+	Frame_Shift_Del	DEL	A	A	-																															ctgtgcaatcaatttcttctAagagaatggcccacctggct																										TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chr20:6078223delA	ENST00000217289.4	-	7	1693	c.905delT	c.(904-906)ttafs	p.L302fs	FERMT1_ENST00000536936.1_Frame_Shift_Del_p.L45fs	NM_017671.4	NP_060141.3	Q9BQL6	FERM1_HUMAN	fermitin family member 1	302	FERM.				cell adhesion|establishment of epithelial cell polarity|keratinocyte migration|keratinocyte proliferation	cytosol|focal adhesion|ruffle membrane	binding			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|skin(2)	17						AATTTCTTCTAAGAGAATGGC	0.403													-	6078223	A	-	6078223	7	5	686	1	0	1	0	1	0	0	0	0	5866	372	13	0	1164	0	FERMT1	20	6078223	Frame_Shift_Del	DEL	A	TCGA-RY-A83Y-01A-11D-A36O-08		6078223	56947297	42	53547											
CPXCR1	53336	broad.mit.edu	37	chrX	88008826	88008826	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttttcgactttcaacttcAtggagagtcccatttattaa	10	16	6	9	2	2	1	2	0	0	1	4	3	3	1	1	1	1	1	1	1	3	7			TCGA-RY-A83Y-01A-11D-A36O-08	TCGA-RY-A83Y-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ccd64d5e-ef83-4d59-afee-255bf044af2e	4a4dbfc4-a72d-4c24-ba49-b7ceb25c9b18	g.chrX:88008826A>G	ENST00000276127.4	+	3	670	c.411A>G	c.(409-411)tcA>tcG	p.S137S	CPXCR1_ENST00000373111.1_Silent_p.S137S	NM_033048.5	NP_149037	Q8N123	CPXCR_HUMAN	CPX chromosome region, candidate 1	137						intracellular	zinc ion binding			NS(1)|cervix(1)|kidney(1)|large_intestine(11)|liver(1)|lung(20)|ovary(3)|upper_aerodigestive_tract(2)	40						TTTCAACTTCATGGAGAGTCC	0.388													G	88008826	A	G	88008826	2	3	686	1	0	0	0	0	0	0	0	1	3867	204	8	3		3	CPXCR1	23	88008826	Silent	SNP	A	TCGA-RY-A83Y-01A-11D-A36O-08		88008826	67261734	43	53548											
USP24	23358	broad.mit.edu	37	chr1	55561033	55561033	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtagaaaagcatataggcaTtccagtatcttcggcgcaca	13	9	10	9	2	1	1	0	0	1	1	3	1	2	1	1	3	1	5	1	3	6	6			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:55561033T>G	ENST00000294383.6	-	51	6097	c.6098A>C	c.(6097-6099)aAt>aCt	p.N2033T	USP24_ENST00000407756.1_Missense_Mutation_p.N1873T	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	2033					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						CATATAGGCATTCCAGTATCT	0.403													G	55561033	T	G	55561033	3	3	687	1	0	0	0	0	1	0	0	0	17157	1493	52	5	1836	5	USP24	1	55561033	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		55561033	193689588	1	53549											
BCL9	607	broad.mit.edu	37	chr1	147091170	147091170	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gggcctcagaaaaaaccagaAgggccaatacaggccatgat	16	4	11	10	0	1	3	1	1	0	2	1	3	1	3	4	3	2	0	4	3	6	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:147091170A>C	ENST00000234739.3	+	8	1949	c.1209A>C	c.(1207-1209)gaA>gaC	p.E403D		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	403	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding			breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					AAAAACCAGAAGGGCCAATAC	0.542			T	"IGH@, IGL@"	B-ALL								C	147091170	A	C	147091170	3	2	687	1	0	0	0	0	1	0	0	0	1386	69	3	5	1227	5	BCL9	1	147091170	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	91530137	147091170	102159451	2	53550											
CR1	1378	broad.mit.edu	37	chr1	207741294	207741294	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acccagacagagggacgagcTtcgacctcattggagagagc	12	5	13	11	2	1	3	1	0	0	3	2	8	1	5	2	2	2	1	2	2	0	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr1:207741294T>C	ENST00000367049.4	+	25	4078	c.4078T>C	c.(4078-4080)Ttc>Ctc	p.F1360L	CR1_ENST00000367052.1_Intron|RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Missense_Mutation_p.F910L|CR1_ENST00000400960.2_Missense_Mutation_p.F910L|CR1_ENST00000367053.1_Missense_Mutation_p.F910L	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	910	Sushi 21.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						AGGGACGAGCTTCGACCTCAT	0.532													C	207741294	T	C	207741294	3	2	687	1	0	0	0	0	1	0	0	0	3871	1609	56	3	4176	3	CR1	1	207741294	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	60650124	207741294	41509327	3	53551											
ADRA2B	151	broad.mit.edu	37	chr2	96780731	96780733	+	In_Frame_Del	DEL	GAA	GAA	-																															atggctcccaggctgtagctGaagaagaaggggaaccagca																										TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:96780731_96780733delGAA	ENST00000409345.3	-	1	1251_1253	c.1156_1158delTTC	c.(1156-1158)ttcdel	p.F386del		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	389					activation of MAPK activity by adrenergic receptor signaling pathway|activation of protein kinase B activity|blood coagulation|cell-cell signaling|epidermal growth factor receptor transactivation by G-protein coupled receptor signaling pathway|negative regulation of epinephrine secretion|negative regulation of norepinephrine secretion|positive regulation of neuron differentiation	integral to plasma membrane	alpha2-adrenergic receptor activity|epinephrine binding|protein binding			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Bethanidine(DB00217)|Brimonidine(DB00484)|Debrisoquin(DB04840)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Lofexidine(DB04948)|Norepinephrine(DB00368)|Yohimbine(DB01392)	GGCTGTAGCTGAAGAAGAAGGGG	0.596													-	96780733	GAA	-	96780731	7	5	687	1	0	1	0	1	0	0	0	0	338	1281	45	0	189	0	ADRA2B	2	96780731	In_Frame_Del	DEL	GAA	TCGA-RY-A83Z-01A-11D-A36O-08		96780731	146418642	4	53552											
TTN	7273	broad.mit.edu	37	chr2	179400060	179400060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttattttcagctattaccCggaactggtaacttgttttt	9	19	6	7	1	1	0	1	0	0	0	1	1	1	1	1	2	4	3	1	2	5	10			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179400060C>T	ENST00000589042.1	-	358	101506	c.101282G>A	c.(101281-101283)cGg>cAg	p.R33761Q	TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R24888Q|TTN_ENST00000591111.1_Missense_Mutation_p.R32120Q|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R31193Q|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R24821Q|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R24696Q|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	32120							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R31191L(1)|p.R24696L(1)|p.R31193L(1)|p.R24821L(1)|p.R24888L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCTATTACCCGGAACTGGTA	0.418													T	179400060	C	T	179400060	3	4	687	1	0	0	0	0	1	0	0	0	16837	652	23	1	6717	1	TTN	2	179400060	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	82619329	179400060	63799313	5	53553											
TTN	7273	broad.mit.edu	37	chr2	179437479	179437479	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccatggtcccgggcccacttCacctcaggtgcaggccttcc	5	8	10	18	1	2	0	2	0	0	0	4	0	4	0	6	4	1	1	6	4	0	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:179437479C>G	ENST00000589042.1	-	326	73604	c.73380G>C	c.(73378-73380)gtG>gtC	p.V24460V	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.V15587V|TTN_ENST00000591111.1_Silent_p.V22819V|TTN_ENST00000342992.6_Silent_p.V21892V|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.V15520V|TTN_ENST00000460472.2_Silent_p.V15395V|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22819	Fibronectin type-III 78.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGGCCCACTTCACCTCAGGTG	0.463													G	179437479	C	G	179437479	2	3	687	1	0	0	0	0	0	0	0	1	16837	813	29	4		4	TTN	2	179437479	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	37419	179437479	63761894	6	53554											
FSIP2	401024	broad.mit.edu	37	chr2	186670584	186670584	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctacaggtgtgacaaataaAaaggaagtggatgaaaataa	20	7	11	3	0	0	2	0	2	0	0	0	4	0	4	0	3	1	1	0	3	9	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:186670584A>G	ENST00000343098.5	+	17	16818	c.16818A>G	c.(16816-16818)aaA>aaG	p.K5606K	FSIP2_ENST00000424728.1_Silent_p.K5517K	NM_173651.2	NP_775922.2			fibrous sheath interacting protein 2											NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						TGACAAATAAAAAGGAAGTGG	0.348													G	186670584	A	G	186670584	2	3	687	1	0	0	0	0	0	0	0	1	6127	11	1	3		3	FSIP2	2	186670584	Silent	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	7233105	186670584	56528789	7	53555											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	687	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	22442528	209113112	34086261	8	53556											
FANCD2	2177	broad.mit.edu	37	chr3	10134979	10134979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctccaggtatttgataGtcatcctgttctgcatgtat	8	16	7	10	0	3	1	1	1	2	0	5	1	4	1	3	1	1	4	3	1	3	5			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr3:10134979G>A	ENST00000287647.3	+	39	3953	c.3860G>A	c.(3859-3861)aGt>aAt	p.S1287N	FANCD2OS_ENST00000436517.1_Intron|FANCD2OS_ENST00000524279.1_Intron|FANCD2_ENST00000383806.1_3'UTR|FANCD2_ENST00000419585.1_Missense_Mutation_p.S1287N|FANCD2_ENST00000383807.1_Missense_Mutation_p.S1287N	NM_033084.3	NP_149075.2	Q9BXW9	FACD2_HUMAN	Fanconi anemia, complementation group D2	1287					DNA repair|response to gamma radiation	nucleoplasm	protein binding	p.S1287I(1)		NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	51				OV - Ovarian serous cystadenocarcinoma(96;0.148)		GTATTTGATAGTCATCCTGTT	0.478			"D, Mis, N, F"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	10134979	G	A	10134979	3	1	687	1	0	0	0	0	1	0	0	0	5714	1029	36	2	4010	2	FANCD2	3	10134979	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		10134979	187887451	9	53557											
SH3TC1	54436	broad.mit.edu	37	chr4	8228808	8228808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccaggctgcccccaggagCcagcgtcctggggtctctgt	4	7	14	16	1	1	0	0	0	1	0	3	1	2	1	5	4	3	1	5	4	0	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:8228808C>T	ENST00000539824.1	+	12	1533	c.1159C>T	c.(1159-1161)Cca>Tca	p.P387S	SH3TC1_ENST00000514274.1_3'UTR|SH3TC1_ENST00000245105.3_Missense_Mutation_p.P463S			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	463							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CCCCCAGGAGCCAGCGTCCTG	0.617													T	8228808	C	T	8228808	3	4	687	1	0	0	0	0	1	0	0	0	14355	739	26	2	1429	2	SH3TC1	4	8228808	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		8228808	182925468	10	53558											
UGT2B7	7364	broad.mit.edu	37	chr4	69962277	69962277	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagtaattttgctaatacaActgagcttttgctttagctc	10	17	6	8	0	1	1	1	1	0	0	2	1	1	1	0	0	6	5	0	0	5	9			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:69962277A>G	ENST00000305231.7	+	1	85	c.39A>G	c.(37-39)caA>caG	p.Q13Q	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Silent_p.Q13Q	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	13					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGCTAATACAACTGAGCTTTT	0.413													G	69962277	A	G	69962277	2	3	687	1	0	0	0	0	0	0	0	1	17064	40	2	3		3	UGT2B7	4	69962277	Silent	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	61733469	69962277	121191999	11	53559											
ADAD1	132612	broad.mit.edu	37	chr4	123301233	123301233	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaggtgagaaaatggctagCaacaatcattggtttcagag	14	10	11	6	0	2	2	2	1	0	2	2	3	2	2	0	3	2	3	0	3	6	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr4:123301233C>A	ENST00000296513.2	+	3	194	c.9C>A	c.(7-9)agC>agA	p.S3R	ADAD1_ENST00000388725.2_Intron|ADAD1_ENST00000388724.2_Missense_Mutation_p.S3R	NM_139243.3	NP_640336.1	Q96M93	ADAD1_HUMAN	adenosine deaminase domain containing 1 (testis-specific)	3					multicellular organismal development|RNA processing	nucleus	adenosine deaminase activity|double-stranded RNA binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAATGGCTAGCAACAATCATT	0.448													A	123301233	C	A	123301233	3	1	687	1	0	0	0	0	1	0	0	0	231	709	25	4	11	4	ADAD1	4	123301233	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	53338956	123301233	67853043	12	53560											
IL31RA	133396	broad.mit.edu	37	chr5	55212675	55212675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaatgggtatgtgacctgCcccttcaggcctgattgtcc	8	11	11	11	0	1	3	1	2	0	1	2	3	2	3	5	2	1	1	5	2	3	3	rs140132589	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:55212675C>T	ENST00000447346.2	+	15	2087	c.2022C>T	c.(2020-2022)tgC>tgT	p.C674C	IL31RA_ENST00000359040.5_Intron|IL31RA_ENST00000396834.1_Intron|IL31RA_ENST00000490985.1_Silent_p.C532C|IL31RA_ENST00000354961.4_Intron	NM_001242636.1|NM_139017.5	NP_001229565.1|NP_620586.3	Q8NI17	IL31R_HUMAN	interleukin 31 receptor A	642					anti-apoptosis|defense response|homeostatic process|JAK-STAT cascade|macrophage differentiation|MAPKKK cascade|monocyte differentiation|negative regulation of macrophage activation|positive regulation of cell proliferation|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|transmembrane receptor protein tyrosine kinase signaling pathway	integral to membrane|plasma membrane	cytokine receptor activity|protein kinase binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|stomach(1)	21		Lung NSC(810;6.93e-05)|Prostate(74;0.00741)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGTGACCTGCCCCTTCAGGC	0.483													T	55212675	C	T	55212675	2	4	687	1	0	0	0	0	0	0	0	1	7749	747	26	2		2	IL31RA	5	55212675	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		55212675	125702585	13	53561											
FAT2	2196	broad.mit.edu	37	chr5	150885459	150885459	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tggttgctgtaacggggtggGagaggtgcccgcttgttttc	4	13	17	7	2	0	1	0	0	0	1	1	2	0	1	1	5	3	5	1	5	1	5			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr5:150885459G>A	ENST00000261800.5	-	23	12729	c.12717C>T	c.(12715-12717)ctC>ctT	p.L4239L		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	4239					epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACGGGGTGGGAGAGGTGCCC	0.627													A	150885459	G	A	150885459	2	1	687	1	0	0	0	0	0	0	0	1	5739	1161	41	2		2	FAT2	5	150885459	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	95672784	150885459	30029801	14	53562											
SLC17A2	10246	broad.mit.edu	37	chr6	25921320	25921320	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgacctgtccatgccattCcctgaaatgaaaatcattaa	14	11	5	11	0	1	3	1	3	0	0	3	3	3	3	4	0	1	0	4	0	4	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:25921320C>A	ENST00000377850.3	-	5	1000	c.476G>T	c.(475-477)gGa>gTa	p.G159V	SLC17A2_ENST00000265425.3_Splice_Site_p.G159V|SLC17A2_ENST00000360488.3_Splice_Site_p.G159V			O00624	NPT3_HUMAN	solute carrier family 17, member 2	159					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCATGCCATTCCCTGAAATGA	0.448													A	25921320	C	A	25921320	5	1	687	1	0	0	0	0	0	0	1	0	14511	869	30	4	862	4	SLC17A2	6	25921320	Splice_Site	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		25921320	145193747	15	53563											
C4A	720	broad.mit.edu	37	chr6	31963505	31963505	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctctccaaggctacatgcGgatccagcagtttcggaagg	9	9	11	12	2	1	0	0	0	1	0	5	2	3	2	3	4	3	3	3	4	3	2	rs143990092		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:31963505G>A	ENST00000428956.2	+	25	3248	c.3164G>A	c.(3163-3165)cGg>cAg	p.R1055Q	C4A_ENST00000498271.1_Missense_Mutation_p.R1055Q	NM_007293.2	NP_009224.2			complement component 4A (Rodgers blood group)																		GGCTACATGCGGATCCAGCAG	0.607													A	31963505	G	A	31963505	3	1	687	1	0	0	0	0	1	0	0	0	2269	1116	39	1	3262	1	C4A	6	31963505	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	6042185	31963505	139151562	16	53564											
PAQR8	85315	broad.mit.edu	37	chr6	52268814	52268814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctgccccgtgcctgAgaagtacttcccgggttcct	4	12	9	16	2	1	1	0	1	1	1	4	2	3	1	6	1	3	2	6	1	2	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:52268814A>G	ENST00000442253.2	+	2	977	c.803A>G	c.(802-804)gAg>gGg	p.E268G	PAQR8_ENST00000360726.3_Missense_Mutation_p.E268G	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	268					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					CCCGTGCCTGAGAAGTACTTC	0.572													G	52268814	A	G	52268814	3	3	687	1	0	0	0	0	1	0	0	0	11517	304	11	3	805	3	PAQR8	6	52268814	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	20305309	52268814	118846253	17	53565											
PLG	5340	broad.mit.edu	37	chr6	161152785	161152786	+	Frame_Shift_Del	DEL	TT	TT	-																															ttccctgtacagactgtatgTttgggaatgggaaaggatac																										TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161152785_161152786delTT	ENST00000308192.9	+	12	1510_1511	c.1447_1448delTT	c.(1447-1449)tttfs	p.F483fs		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	483	Kringle 5.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	AGACTGTATGTTTGGGAATGGG	0.495													-	161152786	TT	-	161152785	7	5	687	1	0	1	0	1	0	0	0	0	12163	1725	60	0	1497	0	PLG	6	161152785	Frame_Shift_Del	DEL	TT	TCGA-RY-A83Z-01A-11D-A36O-08	108883971	161152785	9962282	18	53566											
MAP3K4	4216	broad.mit.edu	37	chr6	161469730	161469730	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaatacagctataagcaGgagaaaaagatccgagcagc	19	4	11	7	1	0	3	0	0	0	3	1	6	1	3	1	1	5	3	1	1	7	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr6:161469730G>A	ENST00000392142.4	+	3	574	c.426G>A	c.(424-426)caG>caA	p.Q142Q	MAP3K4_ENST00000348824.7_Silent_p.Q142Q|MAP3K4_ENST00000366920.2_Silent_p.Q142Q|MAP3K4_ENST00000446500.1_3'UTR|MAP3K4_ENST00000366919.2_Silent_p.Q142Q	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	142					activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCTATAAGCAGGAGAAAAAGA	0.373													A	161469730	G	A	161469730	2	1	687	1	0	0	0	0	0	0	0	1	9327	991	35	2		2	MAP3K4	6	161469730	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	316945	161469730	9645337	19	53567											
OSBPL3	26031	broad.mit.edu	37	chr7	24843938	24843938	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatccaggcacgaacctgaAaaaccgaggctggtgctcca	13	5	10	13	2	0	1	0	1	0	0	2	3	2	1	4	3	3	3	4	3	4	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:24843938A>G	ENST00000313367.2	-	22	3014	c.2563T>C	c.(2563-2565)Ttc>Ctc	p.F855L	OSBPL3_ENST00000409069.1_Missense_Mutation_p.F788L|OSBPL3_ENST00000431825.2_Missense_Mutation_p.F788L|OSBPL3_ENST00000487020.1_5'UTR|OSBPL3_ENST00000396431.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000396429.1_Missense_Mutation_p.F819L|OSBPL3_ENST00000352860.1_Missense_Mutation_p.F824L|OSBPL3_ENST00000353930.1_Missense_Mutation_p.F819L	NM_015550.2	NP_056365.1	Q9H4L5	OSBL3_HUMAN	oxysterol binding protein-like 3	855					lipid transport		lipid binding|protein binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(19)|prostate(1)|skin(3)|urinary_tract(1)	43						ACGAACCTGAAAAACCGAGGC	0.463													G	24843938	A	G	24843938	3	3	687	1	0	0	0	0	1	0	0	0	11355	14	1	3	108	3	OSBPL3	7	24843938	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		24843938	134294725	20	53568											
SUN3	256979	broad.mit.edu	37	chr7	48068665	48068665	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tataatgtcttcttcctccaCgggtgtttcttcttgaagac	7	17	7	10	1	4	2	0	1	4	1	6	2	6	2	2	1	0	1	2	1	3	7			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:48068665C>T	ENST00000297325.4	-	0	30				SUN3_ENST00000412142.1_De_novo_Start_OutOfFrame|SUN3_ENST00000395572.2_De_novo_Start_OutOfFrame	NM_001030019.1	NP_001025190.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3							integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TCTTCCTCCACGGGTGTTTCT	0.398													T	48068665	C	T	48068665	1	4	687	1	0	0	0	0	0	0	0	0	15489	551	19	1		1	SUN3	7	48068665	Translation_Start_Site	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	23224727	48068665	111069998	21	53569											
RELN	5649	broad.mit.edu	37	chr7	103234846	103234846	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgatgtcatcgactgcccaCtggtcatagtcctcccctga	8	11	8	14	1	2	2	2	2	0	0	5	3	4	2	4	1	1	0	4	1	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:103234846C>T	ENST00000428762.1	-	26	3792	c.3633G>A	c.(3631-3633)caG>caA	p.Q1211Q	RELN_ENST00000343529.5_Silent_p.Q1211Q|RELN_ENST00000424685.2_Silent_p.Q1211Q	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	1211					axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CGACTGCCCACTGGTCATAGT	0.507													T	103234846	C	T	103234846	2	4	687	1	0	0	0	0	0	0	0	1	13308	564	20	2		2	RELN	7	103234846	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	55166181	103234846	55903817	22	53570											
TES	26136	broad.mit.edu	37	chr7	115891827	115891827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcagtcctgctattgctGcaaactgagtatgaaagaag	12	12	9	8	0	1	3	1	2	0	1	2	3	2	3	1	0	4	4	1	0	5	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr7:115891827G>A	ENST00000358204.4	+	5	931	c.716G>A	c.(715-717)tGc>tAc	p.C239Y	AC073130.3_ENST00000444244.1_RNA|AC002066.1_ENST00000446355.2_RNA|TES_ENST00000537767.1_5'UTR|TES_ENST00000393481.2_Missense_Mutation_p.C230Y	NM_015641.3	NP_056456.1	Q9UGI8	TES_HUMAN	testis derived transcript (3 LIM domains)	239	LIM zinc-binding 1.				negative regulation of cell proliferation	cytoplasm|focal adhesion|nucleus|protein complex	zinc ion binding			endometrium(4)|large_intestine(4)|lung(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	12	Lung NSC(10;0.0137)|all_lung(10;0.0148)	Breast(660;0.0602)	STAD - Stomach adenocarcinoma(10;0.00878)			TGCTATTGCTGCAAACTGAGT	0.438													A	115891827	G	A	115891827	3	1	687	1	0	0	0	0	1	0	0	0	15865	1319	46	2	734	2	TES	7	115891827	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	12656981	115891827	43246836	23	53571											
ADAM28	10863	broad.mit.edu	37	chr8	24187604	24187604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaagtgtccttctacaaTatgtgtgatggacaaagcac	12	12	9	8	0	1	1	0	1	1	0	2	2	2	2	1	1	3	2	1	1	5	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:24187604T>C	ENST00000265769.4	+	11	1189	c.1079T>C	c.(1078-1080)aTa>aCa	p.I360T	RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Missense_Mutation_p.I107T|RP11-624C23.1_ENST00000519689.1_RNA|ADAM28_ENST00000437154.2_Missense_Mutation_p.I360T|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000518516.1_3'UTR|ADAM28_ENST00000540823.1_Missense_Mutation_p.I127T	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	360	Peptidase M12B.				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		CCTTCTACAATATGTGTGATG	0.473													C	24187604	T	C	24187604	3	2	687	1	0	0	0	0	1	0	0	0	246	1406	49	3	1121	3	ADAM28	8	24187604	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		24187604	122176418	24	53572											
XKR9	389668	broad.mit.edu	37	chr8	71619293	71619293	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagagtgactgatttgagcaTgctcagactatttgagacct	11	13	10	7	0	1	6	1	4	0	3	1	7	1	6	1	0	2	2	1	0	2	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr8:71619293T>A	ENST00000408926.3	+	4	932	c.398T>A	c.(397-399)aTg>aAg	p.M133K	XKR9_ENST00000520030.1_Missense_Mutation_p.M133K|XKR9_ENST00000520273.1_3'UTR	NM_001011720.1	NP_001011720.1	Q5GH70	XKR9_HUMAN	XK, Kell blood group complex subunit-related family, member 9	133						integral to membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(2)|lung(4)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	Breast(64;0.0716)		Epithelial(68;0.00301)|all cancers(69;0.0165)|OV - Ovarian serous cystadenocarcinoma(28;0.0524)|BRCA - Breast invasive adenocarcinoma(89;0.166)			GATTTGAGCATGCTCAGACTA	0.388													A	71619293	T	A	71619293	3	1	687	1	0	0	0	0	1	0	0	0	17540	1464	51	5	404	5	XKR9	8	71619293	Missense_Mutation	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08	47431689	71619293	74744729	25	53573											
DNAJA1	3301	broad.mit.edu	37	chr9	33037066	33037066	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tactaaatgaaggcatgccaAtttatcgtagaccatatgaa	16	11	7	7	1	0	3	0	2	0	1	1	3	0	3	2	1	2	2	2	1	9	6	rs144405670		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:33037066A>G	ENST00000330899.4	+	8	1111	c.928A>G	c.(928-930)Att>Gtt	p.I310V	DNAJA1_ENST00000495015.1_3'UTR|DNAJA1_ENST00000544625.1_Missense_Mutation_p.I153V	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	310					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		AGGCATGCCAATTTATCGTAG	0.348													G	33037066	A	G	33037066	3	3	687	1	0	0	0	0	1	0	0	0	4650	101	4	3	954	3	DNAJA1	9	33037066	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		33037066	108176365	26	53574											
RC3H2	54542	broad.mit.edu	37	chr9	125639774	125639774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caagctcttcctgagaatggGcaaatgtacaatttgttcct	11	13	8	9	0	1	1	0	1	1	1	3	2	3	1	2	1	2	4	2	1	5	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr9:125639774G>A	ENST00000373670.1	-	8	1901	c.1301C>T	c.(1300-1302)gCc>gTc	p.A434V	RC3H2_ENST00000423239.2_Missense_Mutation_p.A434V|RC3H2_ENST00000373665.2_Missense_Mutation_p.A434V|RC3H2_ENST00000335387.5_Missense_Mutation_p.A434V|RC3H2_ENST00000357244.2_Missense_Mutation_p.A434V			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	434						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						CTGAGAATGGGCAAATGTACA	0.393													A	125639774	G	A	125639774	3	1	687	1	0	0	0	0	1	0	0	0	13255	1203	42	2	2404	2	RC3H2	9	125639774	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	92602708	125639774	15573657	27	53575											
MYO3A	53904	broad.mit.edu	37	chr10	26463168	26463168	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaggaaggcagaggccgTctgaggcatgagacagtcaa	13	4	16	8	1	2	3	1	2	1	2	2	6	2	5	1	5	0	2	1	5	2	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr10:26463168T>A	ENST00000265944.5	+	30	4141	c.3975T>A	c.(3973-3975)cgT>cgA	p.R1325R	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1325					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						GCAGAGGCCGTCTGAGGCATG	0.483													A	26463168	T	A	26463168	2	1	687	1	0	0	0	0	0	0	0	1	10152	1654	58	5		5	MYO3A	10	26463168	Silent	SNP	T	TCGA-RY-A83Z-01A-11D-A36O-08		26463168	109071579	28	53576											
OR8H1	219469	broad.mit.edu	37	chr11	56058377	56058377	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatacatgggagtgtgaagCtggaggtccaggcggattat	12	9	15	5	1	0	1	0	1	0	0	1	4	1	4	1	5	2	1	1	5	4	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:56058377C>T	ENST00000313022.2	-	1	189	c.162G>A	c.(160-162)caG>caA	p.Q54Q		NM_001005199.1	NP_001005199.1	Q8NGG4	OR8H1_HUMAN	olfactory receptor, family 8, subfamily H, member 1	54					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Esophageal squamous(21;0.00448)					GAGTGTGAAGCTGGAGGTCCA	0.413													T	56058377	C	T	56058377	2	4	687	1	0	0	0	0	0	0	0	1	11313	796	28	2		2	OR8H1	11	56058377	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		56058377	78948139	29	53577											
NADSYN1	55191	broad.mit.edu	37	chr11	71208529	71208529	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cagatttttgttgtgcacagGaagatatggggatgacatat	12	13	12	4	0	0	3	0	1	0	2	0	5	0	5	0	3	1	2	0	3	3	5			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:71208529G>C	ENST00000319023.2	+	19	1953	c.1765G>C	c.(1765-1767)Gaa>Caa	p.E589Q	NADSYN1_ENST00000530055.1_Splice_Site_p.E218Q|NADSYN1_ENST00000539574.1_Splice_Site_p.E329Q	NM_018161.4	NP_060631.2	Q6IA69	NADE_HUMAN	NAD synthetase 1	589	Ligase (By similarity).				NAD biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds|NAD+ synthase (glutamine-hydrolyzing) activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	25					L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	TTGTGCACAGGAAGATATGGG	0.517													C	71208529	G	C	71208529	5	2	687	1	0	0	0	0	0	0	1	0	10214	1188	41	4	1839	4	NADSYN1	11	71208529	Splice_Site	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	15150152	71208529	63797987	30	53578											
LRRC32	2615	broad.mit.edu	37	chr11	76372296	76372296	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggccaccagcactcagcGcagtggccatcgccagccgg	8	3	12	18	3	1	0	1	0	0	0	2	0	1	0	6	3	3	2	6	3	0	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr11:76372296G>A	ENST00000407242.2	-	3	583	c.341C>T	c.(340-342)gCg>gTg	p.A114V	LRRC32_ENST00000404995.1_Missense_Mutation_p.A114V|LRRC32_ENST00000260061.5_Missense_Mutation_p.A114V|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	114						integral to plasma membrane		p.A114E(1)		endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						AGCACTCAGCGCAGTGGCCAT	0.677													A	76372296	G	A	76372296	3	1	687	1	0	0	0	0	1	0	0	0	9057	1087	38	1	1651	1	LRRC32	11	76372296	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	5163767	76372296	58634220	31	53579											
KRT8	3856	broad.mit.edu	37	chr12	53292607	53292607	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcggcctccagctcggacAacttggcgttggcatcctta	6	9	13	13	3	0	0	0	0	0	0	3	1	2	1	3	5	2	3	3	5	2	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:53292607A>G	ENST00000552551.1	-	7	1490	c.1058T>C	c.(1057-1059)tTg>tCg	p.L353S	KRT8_ENST00000293308.6_Missense_Mutation_p.L353S|KRT8_ENST00000546897.1_Missense_Mutation_p.L353S|KRT8_ENST00000552150.1_Missense_Mutation_p.L381S			P05787	K2C8_HUMAN	keratin 8	353	Coil 2.|Necessary for interaction with PNN.|Rod.				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CAGCTCGGACAACTTGGCGTT	0.637													G	53292607	A	G	53292607	3	3	687	1	0	0	0	0	1	0	0	0	8551	131	5	3	405	3	KRT8	12	53292607	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		53292607	80559288	32	53580											
DGKA	1606	broad.mit.edu	37	chr12	56347145	56347145	+	Frame_Shift_Del	DEL	C	C	-																															ctcctatagcaccacaaaaaCccttcccatgcaaattgacg																										TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56347145delC	ENST00000331886.5	+	23	2529	c.2075delC	c.(2074-2076)accfs	p.T692fs	DGKA_ENST00000394147.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000551156.1_Frame_Shift_Del_p.T692fs|DGKA_ENST00000549079.2_3'UTR	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	692					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	ACCACAAAAACCCTTCCCATG	0.463													-	56347145	C	-	56347145	7	5	687	1	0	1	0	1	0	0	0	0	4504	507	18	0	2161	0	DGKA	12	56347145	Frame_Shift_Del	DEL	C	TCGA-RY-A83Z-01A-11D-A36O-08	3054538	56347145	77504750	33	53581											
TIMELESS	8914	broad.mit.edu	37	chr12	56811559	56811559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttttggattcctggagctcCcaactctggtgctgtgggaa	6	13	12	10	0	1	0	0	0	1	0	3	3	3	3	2	4	3	2	2	4	2	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:56811559C>T	ENST00000229201.4	-	29	3719	c.3565G>A	c.(3565-3567)Gga>Aga	p.G1189R	TIMELESS_ENST00000553532.1_Missense_Mutation_p.G1190R|TIMELESS_ENST00000554616.1_Missense_Mutation_p.G687R	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	1190					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						CCTGGAGCTCCCAACTCTGGT	0.453													T	56811559	C	T	56811559	3	4	687	1	0	0	0	0	1	0	0	0	16004	632	22	2	62	2	TIMELESS	12	56811559	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	464414	56811559	77040336	34	53582											
KCNMB4	27345	broad.mit.edu	37	chr12	70824293	70824294	+	In_Frame_Ins	INS	-	-	ATGATG																															tgtgcttctgcatcgcactcINSatgatgagattgtcctcctg																										TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr12:70824293_70824294insATGATG	ENST00000258111.4	+	3	952_953	c.493_494insATGATG	c.(493-495)cat>cATGATGat	p.165_166insDD		NM_014505.5	NP_055320.4	Q86W47	KCMB4_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 4	165					detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of neurotransmitter secretion|regulation of vasoconstriction|synaptic transmission	voltage-gated potassium channel complex	calcium-activated potassium channel activity|protein binding			kidney(1)|large_intestine(4)|lung(5)	10	Renal(347;0.236)		Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			GCATCGCACTCATGATGAGATT	0.49													ATGATG	70824294	-	ATGATG	70824293	7	5	687	1	0	1	1	0	0	0	0	0	8135	826	29	0	503	0	KCNMB4	12	70824293	In_Frame_Ins	INS	-	TCGA-RY-A83Z-01A-11D-A36O-08	14012734	70824293	63027602	35	53583											
ATP12A	479	broad.mit.edu	37	chr13	25281245	25281245	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgggattgccatggggataGcaggttctgatgcagccaaa	10	10	14	7	0	1	1	0	1	1	0	1	3	1	3	2	4	4	3	2	4	2	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr13:25281245G>T	ENST00000218548.6	+	16	2605	c.2272G>T	c.(2272-2274)Gca>Tca	p.A758S	ATP12A_ENST00000381946.3_Missense_Mutation_p.A752S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	752					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CATGGGGATAGCAGGTTCTGA	0.552													T	25281245	G	T	25281245	3	4	687	1	0	0	0	0	1	0	0	0	1127	971	34	4	2334	4	ATP12A	13	25281245	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		25281245	89888633	36	53584											
CATSPERB	79820	broad.mit.edu	37	chr14	92055893	92055893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctactcagtttccagttgtGcctcatgttcacttcagtca	7	15	6	13	0	5	0	5	0	0	0	6	0	6	0	3	0	2	3	3	0	1	5			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr14:92055893G>A	ENST00000256343.3	-	24	3097	c.2941C>T	c.(2941-2943)Cac>Tac	p.H981Y		NM_024764.2	NP_079040.2	Q9H7T0	CTSRB_HUMAN	catsper channel auxiliary subunit beta	981					cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|kidney(3)|large_intestine(15)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(2)	54		all_cancers(154;0.0663)|all_epithelial(191;0.236)				TTCCAGTTGTGCCTCATGTTC	0.363													A	92055893	G	A	92055893	3	1	687	1	0	0	0	0	1	0	0	0	2717	1319	46	2	425	2	CATSPERB	14	92055893	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		92055893	15293647	37	53585											
WDR72	256764	broad.mit.edu	37	chr15	53907717	53907717	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactatagtatctgactctcGcaaagaatcacaattatttt	15	14	4	8	1	3	2	1	1	2	1	4	2	3	2	0	0	1	2	0	0	8	6			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:53907717G>A	ENST00000396328.1	-	15	2925	c.2686C>T	c.(2686-2688)Cga>Tga	p.R896*	WDR72_ENST00000559418.1_Nonsense_Mutation_p.R906*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.R893*|WDR72_ENST00000360509.5_Nonsense_Mutation_p.R896*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	896										NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		TCTGACTCTCGCAAAGAATCA	0.343													A	53907717	G	A	53907717	4	1	687	1	0	0	0	0	0	1	0	0	17424	1095	38	1	646	1	WDR72	15	53907717	Nonsense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		53907717	48623675	38	53586											
AGBL1	123624	broad.mit.edu	37	chr15	86940603	86940603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctttttctgcaggacatcGtccatatcaggtgatcactg	8	13	8	12	1	3	1	2	1	1	0	5	2	4	2	2	2	1	1	2	2	1	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr15:86940603G>A	ENST00000441037.2	+	17	2338	c.2243G>A	c.(2242-2244)cGt>cAt	p.R748H	AGBL1_ENST00000389298.3_Missense_Mutation_p.R479H|AGBL1_ENST00000421325.2_Missense_Mutation_p.R748H	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	748					C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						GCAGGACATCGTCCATATCAG	0.403													A	86940603	G	A	86940603	3	1	687	1	0	0	0	0	1	0	0	0	375	1145	40	1	2305	1	AGBL1	15	86940603	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	33032886	86940603	15590789	39	53587											
GPR139	124274	broad.mit.edu	37	chr16	20043306	20043306	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttcagaagggctagcatGttggcaatgtcggacatgat	10	11	14	6	1	1	2	1	1	0	1	2	3	1	3	0	3	1	5	0	3	3	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:20043306G>A	ENST00000570682.1	-	2	1113	c.813C>T	c.(811-813)aaC>aaT	p.N271N		NM_001002911.2	NP_001002911.1	Q6DWJ6	GP139_HUMAN	G protein-coupled receptor 139	271						integral to membrane|plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	30						GGGCTAGCATGTTGGCAATGT	0.552													A	20043306	G	A	20043306	2	1	687	1	0	0	0	0	0	0	0	1	6702	1368	48	2		2	GPR139	16	20043306	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		20043306	70311447	40	53588											
CRYM	1428	broad.mit.edu	37	chr16	21281137	21281137	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaaggagaactgctctgtgaAgatctcataatggctgtagg	13	10	12	6	0	2	3	1	1	2	2	3	4	2	3	0	3	2	3	0	3	5	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr16:21281137A>G	ENST00000219599.3	-	6	728	c.463T>C	c.(463-465)Ttc>Ctc	p.F155L	CRYM_ENST00000396023.2_Missense_Mutation_p.F155L|CRYM_ENST00000543948.1_Missense_Mutation_p.F155L|CRYM_ENST00000415987.2_Missense_Mutation_p.F113L	NM_001888.3	NP_001879.1	Q14894	CRYM_HUMAN	crystallin, mu	155					negative regulation of transcription from RNA polymerase II promoter|sensory perception of sound|thyroid hormone transport	cytoplasm|nucleus|plasma membrane	NADP binding|protein homodimerization activity|thyroid hormone binding|transcription corepressor activity			large_intestine(1)|lung(3)	4				GBM - Glioblastoma multiforme(48;0.0573)	Levothyroxine(DB00451)	TGCTCTGTGAAGATCTCATAA	0.522													G	21281137	A	G	21281137	3	3	687	1	0	0	0	0	1	0	0	0	3952	72	3	3	501	3	CRYM	16	21281137	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	1237831	21281137	69073616	41	53589											
OR1G1	8390	broad.mit.edu	37	chr17	3030555	3030555	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaatacaactgtagtagAcaccctgagtaggagatggc	17	7	10	7	0	0	3	0	1	0	2	0	4	0	3	1	2	2	3	1	2	8	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:3030555A>C	ENST00000328890.2	-	1	320	c.291T>G	c.(289-291)tgT>tgG	p.C97W		NM_003555.1	NP_003546.1	P47890	OR1G1_HUMAN	olfactory receptor, family 1, subfamily G, member 1	97					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(3)|skin(3)	11						ACTGTAGTAGACACCCTGAGT	0.502													C	3030555	A	C	3030555	3	2	687	1	0	0	0	0	1	0	0	0	11033	273	10	5	654	5	OR1G1	17	3030555	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		3030555	78164655	42	53590											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	687	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	4547851	7578406	73616804	43	53591											
XYLT2	64132	broad.mit.edu	37	chr17	48432928	48432928	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aatttcctcaagtcacatggCcgggacaactccaggtgagg	11	8	11	11	1	2	1	2	1	0	0	4	2	4	2	3	4	1	0	3	4	3	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr17:48432928C>T	ENST00000017003.2	+	5	1123	c.1074C>T	c.(1072-1074)ggC>ggT	p.G358G	XYLT2_ENST00000507602.1_Silent_p.G358G	NM_022167.2	NP_071450.2	Q9H1B5	XYLT2_HUMAN	xylosyltransferase II	358					glycosaminoglycan biosynthetic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	acetylglucosaminyltransferase activity|protein xylosyltransferase activity			endometrium(2)|kidney(2)|large_intestine(4)|pancreas(1)|prostate(2)|urinary_tract(1)	12	Breast(11;7.18e-19)					AGTCACATGGCCGGGACAACT	0.612													T	48432928	C	T	48432928	2	4	687	1	0	0	0	0	0	0	0	1	17566	726	26	2		2	XYLT2	17	48432928	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	40854522	48432928	32762282	44	53592											
SLC7A10	56301	broad.mit.edu	37	chr19	33699847	33699847	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagcagggagggtgggcAggggccattctcctcctctt	6	8	16	11	0	2	0	0	0	2	0	4	1	3	1	3	6	1	3	3	6	0	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:33699847A>G	ENST00000253188.4	-	11	1668	c.1522T>C	c.(1522-1524)Tgc>Cgc	p.C508R		NM_019849.2	NP_062823.1	Q9NS82	AAA1_HUMAN	solute carrier family 7 (neutral amino acid transporter light chain, asc system), member 10						blood coagulation|cellular nitrogen compound metabolic process|ion transport|leukocyte migration	integral to plasma membrane	L-serine transmembrane transporter activity			central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(1)|stomach(1)	18	Esophageal squamous(110;0.137)					GAGGGTGGGCAGGGGCCATTC	0.547													G	33699847	A	G	33699847	3	3	687	1	0	0	0	0	1	0	0	0	14787	188	7	3	53	3	SLC7A10	19	33699847	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08		33699847	25429136	45	53593											
CGB8	94115	broad.mit.edu	37	chr19	49552213	49552213	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagggtgaggcggagaccaCggtgaagtgacctcagagac	12	4	16	9	2	1	5	1	3	0	2	1	7	1	5	2	4	0	0	2	4	2	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:49552213C>T	ENST00000355414.2	-	0	187				CGB8_ENST00000448456.3_De_novo_Start_OutOfFrame			P01233	CGHB_HUMAN	chorionic gonadotropin, beta polypeptide 8						apoptosis|cell-cell signaling|cellular nitrogen compound metabolic process|female gamete generation|hormone biosynthetic process|peptide hormone processing|signal transduction	extracellular region|soluble fraction	hormone activity			pancreas(1)	1		all_epithelial(76;9.62e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		all cancers(93;0.000371)|OV - Ovarian serous cystadenocarcinoma(262;0.000503)|GBM - Glioblastoma multiforme(486;0.00518)|Epithelial(262;0.0427)	Choriogonadotropin alfa(DB00097)	GCGGAGACCACGGTGAAGTGA	0.642													T	49552213	C	T	49552213	1	4	687	1	0	0	0	0	0	0	0	0	3331	551	19	1		1	CGB8	19	49552213	Translation_Start_Site	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	15852366	49552213	9576770	46	53594											
LILRB5	10990	broad.mit.edu	37	chr19	54758866	54758866	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggccaccttggggcccggCtgcaccgagagggcgggtat	6	5	18	12	3	0	1	0	0	0	1	0	3	0	1	4	6	1	3	4	6	1	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:54758866C>T	ENST00000450632.1	-	6	1037	c.960G>A	c.(958-960)caG>caA	p.Q320Q	LILRB5_ENST00000345866.6_Silent_p.Q229Q|LILRB5_ENST00000449561.2_Silent_p.Q329Q|LILRB5_ENST00000316219.5_Silent_p.Q329Q			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	329					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGGGCCCGGCTGCACCGAGA	0.607													T	54758866	C	T	54758866	2	4	687	1	0	0	0	0	0	0	0	1	8854	796	28	2		2	LILRB5	19	54758866	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	5206653	54758866	4370117	47	53595											
LILRA2	11027	broad.mit.edu	37	chr19	55086932	55086932	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggccctgtgagcccctccCacgggggccagtacagatgc	6	6	14	15	1	0	2	0	1	0	1	1	2	1	2	5	3	3	1	5	3	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:55086932C>T	ENST00000251377.3	+	6	998	c.865C>T	c.(865-867)Cac>Tac	p.H289Y	LILRA2_ENST00000391738.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000396321.2_Intron|LILRA2_ENST00000391737.1_Missense_Mutation_p.H277Y|LILRA2_ENST00000251376.3_Missense_Mutation_p.H289Y|LILRB1_ENST00000448689.1_Intron|LILRB1_ENST00000418536.2_Intron					leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 2									p.H289Y(1)		breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(33)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50				GBM - Glioblastoma multiforme(193;0.0963)		GAGCCCCTCCCACGGGGGCCA	0.647													T	55086932	C	T	55086932	3	4	687	1	0	0	0	0	1	0	0	0	8845	594	21	2	883	2	LILRA2	19	55086932	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	328066	55086932	4042051	48	53596											
NLRP8	126205	broad.mit.edu	37	chr19	56466710	56466710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgccacctctgtgttcgtccGgtatatttctagcttgtttc	4	18	8	11	2	2	0	0	0	2	0	5	0	3	0	3	1	2	4	3	1	3	7	rs150630809	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr19:56466710G>A	ENST00000291971.3	+	3	1357	c.1286G>A	c.(1285-1287)cGg>cAg	p.R429Q	NLRP8_ENST00000590542.1_Missense_Mutation_p.R429Q	NM_176811.2	NP_789781.2	Q86W28	NALP8_HUMAN	NLR family, pyrin domain containing 8	429	NACHT.					cytoplasm	ATP binding			breast(4)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|ovary(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	35		Colorectal(82;0.000147)|Ovarian(87;0.17)		GBM - Glioblastoma multiforme(193;0.0695)		GTGTTCGTCCGGTATATTTCT	0.493													A	56466710	G	A	56466710	3	1	687	1	0	0	0	0	1	0	0	0	10559	1116	39	1	1296	1	NLRP8	19	56466710	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	1379778	56466710	2662273	49	53597											
APOL3	80833	broad.mit.edu	37	chr22	36537770	36537770	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatcccagtcacagcagaCgctgctcccagccctacccc	8	6	8	19	1	1	2	1	1	0	1	3	2	3	2	5	0	4	3	5	0	1	1	rs146525352	byFrequency	TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:36537770C>T	ENST00000424878.2	-	4	2235	c.87G>A	c.(85-87)gcG>gcA	p.A29A	APOL3_ENST00000349314.2_Silent_p.A229A|APOL3_ENST00000397287.2_Silent_p.A29A|APOL3_ENST00000487423.1_5'UTR|APOL3_ENST00000361710.2_Silent_p.A29A|APOL3_ENST00000397293.2_Silent_p.A158A			O95236	APOL3_HUMAN	apolipoprotein L, 3	229					inflammatory response|lipoprotein metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|extracellular region	lipid binding|lipid transporter activity|signal transducer activity			endometrium(2)|large_intestine(1)|lung(1)|stomach(1)	5						TCACAGCAGACGCTGCTCCCA	0.567													T	36537770	C	T	36537770	2	4	687	1	0	0	0	0	0	0	0	1	810	523	19	1		1	APOL3	22	36537770	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08		36537770	14766796	50	53598											
LGALS1	3956	broad.mit.edu	37	chr22	38075664	38075664	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcaagctgccagatggatacGaattcaagttccccaaccgc	12	8	8	13	2	2	1	2	0	0	1	3	3	3	2	4	1	4	2	4	1	5	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38075664G>A	ENST00000215909.5	+	4	411	c.316G>A	c.(316-318)Gaa>Aaa	p.E106K	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	106	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity	p.E106K(1)		endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					AGATGGATACGAATTCAAGTT	0.567													A	38075664	G	A	38075664	3	1	687	1	0	0	0	0	1	0	0	0	8797	1059	37	1	330	1	LGALS1	22	38075664	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	1537894	38075664	13228902	51	53599											
TRIOBP	11078	broad.mit.edu	37	chr22	38121461	38121461	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaccccagtcctcctttggCcccacccagtacaacttgcc	7	8	5	21	0	0	0	0	0	0	0	2	0	2	0	9	1	3	1	9	1	2	3			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:38121461C>T	ENST00000406386.3	+	7	3153	c.2898C>T	c.(2896-2898)ggC>ggT	p.G966G		NM_001039141.2	NP_001034230.1	Q9H2D6	TARA_HUMAN	TRIO and F-actin binding protein	966					actin modification|barbed-end actin filament capping	actin cytoskeleton|cytoplasm|nucleus	actin binding|GTP-Rho binding|myosin II binding|protein binding|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	12	Melanoma(58;0.0574)					CCTCCTTTGGCCCCACCCAGT	0.647													T	38121461	C	T	38121461	2	4	687	1	0	0	0	0	0	0	0	1	16654	726	26	2		2	TRIOBP	22	38121461	Silent	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	45797	38121461	13183105	52	53600											
RBX1	9978	broad.mit.edu	37	chr22	41347409	41347409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtgtgtttccaaaatggcgGcagcgatggatgtggatacc	9	10	14	8	3	0	0	0	0	0	0	1	3	1	2	2	4	2	2	2	4	3	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chr22:41347409G>A	ENST00000216225.8	+	1	47	c.7G>A	c.(7-9)Gca>Aca	p.A3T	XPNPEP3_ENST00000544094.1_Intron	NM_014248.3	NP_055063.1	P62877	RBX1_HUMAN	ring-box 1, E3 ubiquitin protein ligase	3					DNA repair|interspecies interaction between organisms|protein neddylation|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|viral reproduction	Cul3-RING ubiquitin ligase complex|Cul4A-RING ubiquitin ligase complex|Cul4B-RING ubiquitin ligase complex|cytosol|nucleus|SCF ubiquitin ligase complex	NEDD8 ligase activity|protein binding|zinc ion binding			large_intestine(1)|lung(3)|skin(1)	5						CAAAATGGCGGCAGCGATGGA	0.662													A	41347409	G	A	41347409	3	1	687	1	0	0	0	0	1	0	0	0	13253	1203	42	2	9	2	RBX1	22	41347409	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	3225948	41347409	9957157	53	53601											
CLCN4	1183	broad.mit.edu	37	chrX	10176604	10176604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgatcttcaaaatcgtcGttaccatatttacctttggc	10	15	5	11	2	2	1	1	1	1	0	4	1	2	1	2	1	2	1	2	1	5	6			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:10176604G>A	ENST00000380833.4	+	9	1754	c.1363G>A	c.(1363-1365)Gtt>Att	p.V455I	CLCN4_ENST00000421085.2_Missense_Mutation_p.V361I|CLCN4_ENST00000380829.1_Missense_Mutation_p.V424I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	455						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity	p.V455F(1)		breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CAAAATCGTCGTTACCATATT	0.527													A	10176604	G	A	10176604	3	1	687	1	0	0	0	0	1	0	0	0	3496	1145	40	1	1389	1	CLCN4	23	10176604	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08		10176604	145093956	54	53602											
MAP3K15	389840	broad.mit.edu	37	chrX	19378946	19378946	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccagagtctgcagaggagaCcacccctgggaaacaaacac	14	4	10	13	0	1	3	0	0	1	3	2	5	2	4	4	2	3	1	4	2	2	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:19378946C>A	ENST00000338883.4	-	29	3862	c.3863G>T	c.(3862-3864)gGt>gTt	p.G1288V	MAP3K15_ENST00000359173.3_Missense_Mutation_p.G723V|PDHA1_ENST00000422285.2_3'UTR|PDHA1_ENST00000540249.1_3'UTR|MAP3K15_ENST00000469203.2_Missense_Mutation_p.G1120V|MAP3K15_ENST00000518578.1_5'UTR|PDHA1_ENST00000545074.1_3'UTR|PDHA1_ENST00000379806.5_3'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1288							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					GCAGAGGAGACCACCCCTGGG	0.473													A	19378946	C	A	19378946	3	1	687	1	0	0	0	0	1	0	0	0	9324	507	18	4	82	4	MAP3K15	23	19378946	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	9202342	19378946	135891614	55	53603											
PHEX	5251	broad.mit.edu	37	chrX	22245635	22245635	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcaccaggcttacaggaaAtggataaatgacagaaggca	16	7	10	8	0	1	2	1	1	1	1	2	4	1	4	1	4	1	2	1	4	5	2			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:22245635A>T	ENST00000379374.4	+	20	2542	c.1977A>T	c.(1975-1977)aaA>aaT	p.K659N	PHEX_ENST00000537599.1_Missense_Mutation_p.K659N|PHEX_ENST00000418858.3_Missense_Mutation_p.K362N|PHEX_ENST00000535894.1_Missense_Mutation_p.K562N	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	659					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						CTTACAGGAAATGGATAAATG	0.453													T	22245635	A	T	22245635	3	4	687	1	0	0	0	0	1	0	0	0	11896	98	4	5	2055	5	PHEX	23	22245635	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	2866689	22245635	133024925	56	53604											
CXorf22	170063	broad.mit.edu	37	chrX	35959495	35959495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctaaagagattactatcaCtaaccatggcaaagctccag	15	10	6	10	0	2	1	1	0	1	1	3	2	3	1	2	1	3	2	2	1	6	5			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:35959495C>G	ENST00000297866.5	+	3	563	c.497C>G	c.(496-498)aCt>aGt	p.T166S		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	166										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						ATTACTATCACTAACCATGGC	0.333													G	35959495	C	G	35959495	3	3	687	1	0	0	0	0	1	0	0	0	4135	565	20	4	507	4	CXorf22	23	35959495	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	13713860	35959495	119311065	57	53605											
CFP	5199	broad.mit.edu	37	chrX	47485791	47485791	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccggcacatcgatgtccGtcaaacttgcggcccctgca	7	8	10	16	4	1	0	1	0	0	0	3	1	2	0	4	2	4	2	4	2	1	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:47485791G>A	ENST00000247153.3	-	8	1309	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	CFP_ENST00000396992.3_Silent_p.D356D|CFP_ENST00000377005.2_Silent_p.D356D	NM_002621.2	NP_002612.1	P27918	PROP_HUMAN	complement factor properdin	356	TSP type-1 5.				complement activation, alternative pathway|defense response to bacterium	extracellular space				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	18						ATCGATGTCCGTCAAACTTGC	0.607													A	47485791	G	A	47485791	2	1	687	1	0	0	0	0	0	0	0	1	3323	1136	40	1		1	CFP	23	47485791	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	11526296	47485791	107784769	58	53606											
ZXDA	7789	broad.mit.edu	37	chrX	57935760	57935760	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcgtggggaagctctcctcGcacacctcacatttgaacga	9	9	10	13	3	2	1	1	1	1	0	4	3	2	2	2	2	3	2	2	2	2	1			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57935760G>A	ENST00000358697.4	-	1	1307	c.1095C>T	c.(1093-1095)tgC>tgT	p.C365C		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	365	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						AGCTCTCCTCGCACACCTCAC	0.607													A	57935760	G	A	57935760	2	1	687	1	0	0	0	0	0	0	0	1	18347	1079	38	1		1	ZXDA	23	57935760	Silent	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	10449969	57935760	97334800	59	53607											
ZXDA	7789	broad.mit.edu	37	chrX	57936020	57936020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcagctggtgcttcttggCgaaggtttgcccgcacagcg	5	11	13	12	3	2	0	1	0	1	0	2	1	2	0	1	3	4	4	1	3	1	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:57936020C>T	ENST00000358697.4	-	1	1047	c.835G>A	c.(835-837)Gcc>Acc	p.A279T		NM_007156.4	NP_009087.1	P98168	ZXDA_HUMAN	zinc finger, X-linked, duplicated A	279	Required for interaction with ZXDC.				positive regulation of transcription, DNA-dependent	nucleus	C2H2 zinc finger domain binding|identical protein binding|nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(7)|lung(13)|ovary(2)|prostate(2)|skin(1)	37						TGCTTCTTGGCGAAGGTTTGC	0.697													T	57936020	C	T	57936020	3	4	687	1	0	0	0	0	1	0	0	0	18347	768	27	1	1568	1	ZXDA	23	57936020	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	260	57936020	97334540	60	53608											
SLC16A2	6567	broad.mit.edu	37	chrX	73740894	73740894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtgagtatattcactgaccGtttgggctgccgaatcacag	9	12	11	9	2	2	2	2	2	0	0	2	3	2	2	2	1	1	3	2	1	3	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:73740894G>A	ENST00000276033.5	+	2	888	c.722G>A	c.(721-723)cGt>cAt	p.R241H	SLC16A2_ENST00000587091.1_Missense_Mutation_p.R167H			P36021	MOT8_HUMAN	solute carrier family 16, member 2 (thyroid hormone transporter)	167						integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	21					Pyruvic acid(DB00119)	TTCACTGACCGTTTGGGCTGC	0.512													A	73740894	G	A	73740894	3	1	687	1	0	0	0	0	1	0	0	0	14502	1145	40	1	728	1	SLC16A2	23	73740894	Missense_Mutation	SNP	G	TCGA-RY-A83Z-01A-11D-A36O-08	15804874	73740894	81529666	61	53609											
ATRX	546	broad.mit.edu	37	chrX	76889121	76889122	+	Frame_Shift_Ins	INS	-	-	T																															attcatccaattcaaagcagINStattaagaggacaaaccact																										TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:76889121_76889122insT	ENST00000373344.5	-	18	5102_5103	c.4888_4889insA	c.(4888-4890)actfs	p.T1630fs	ATRX_ENST00000395603.3_Frame_Shift_Ins_p.T1592fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1630	Helicase ATP-binding.				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)	ATTCAAAGCAGTATTAAGAGGA	0.337			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76889122	-	T	76889121	7	5	687	1	0	1	1	0	0	0	0	0	1213	1029	36	0	2661	0	ATRX	23	76889121	Frame_Shift_Ins	INS	-	TCGA-RY-A83Z-01A-11D-A36O-08	3148227	76889121	78381439	62	53610											
GPR112	139378	broad.mit.edu	37	chrX	135426598	135426598	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaaagtacaactgtttcaCaacagatagatatgaccact	19	9	5	8	0	1	3	1	1	0	2	1	3	1	3	1	0	3	2	1	0	8	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:135426598C>T	ENST00000394143.1	+	6	1024	c.733C>T	c.(733-735)Caa>Taa	p.Q245*	GPR112_ENST00000394141.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000412101.1_Nonsense_Mutation_p.Q40*|GPR112_ENST00000370652.1_Nonsense_Mutation_p.Q245*|GPR112_ENST00000287534.4_Nonsense_Mutation_p.Q182*	NM_153834.3	NP_722576.3	Q8IZF6	GP112_HUMAN	G protein-coupled receptor 112	245					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(33)|lung(97)|ovary(5)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	199	Acute lymphoblastic leukemia(192;0.000127)					AACTGTTTCACAACAGATAGA	0.328													T	135426598	C	T	135426598	4	4	687	1	0	0	0	0	0	1	0	0	6683	479	17	2	743	2	GPR112	23	135426598	Nonsense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	58537477	135426598	19843962	63	53611											
MAGEA4	4103	broad.mit.edu	37	chrX	151092272	151092272	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtctcctcctcctctcctCtggtccctggcaccctggag	2	12	8	19	0	3	0	0	0	3	0	8	1	6	1	6	3	0	1	6	3	0	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092272C>G	ENST00000370335.1	+	3	403	c.136C>G	c.(136-138)Ctg>Gtg	p.L46V	MAGEA4_ENST00000393920.1_Missense_Mutation_p.L46V|MAGEA4_ENST00000370337.4_Missense_Mutation_p.L46V|MAGEA4_ENST00000360243.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000276344.2_Missense_Mutation_p.L46V|MAGEA4_ENST00000370340.3_Missense_Mutation_p.L46V|MAGEA4_ENST00000393921.1_Missense_Mutation_p.L46V			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	46							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					CTCCTCTCCTCTGGTCCCTGG	0.627													G	151092272	C	G	151092272	3	3	687	1	0	0	0	0	1	0	0	0	9241	912	32	4	138	4	MAGEA4	23	151092272	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	15665674	151092272	4178288	64	53612			1	83		2	2	28	C		5.756254e-05
MAGEA4	4103	broad.mit.edu	37	chrX	151092299	151092299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctggcaccctggaggaagtgCctgctgctgagtcagcaggt	7	8	15	11	0	1	1	1	1	0	0	1	3	1	3	2	4	4	4	2	4	1	0			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:151092299C>T	ENST00000370335.1	+	3	430	c.163C>T	c.(163-165)Cct>Tct	p.P55S	MAGEA4_ENST00000393920.1_Missense_Mutation_p.P55S|MAGEA4_ENST00000370337.4_Missense_Mutation_p.P55S|MAGEA4_ENST00000360243.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000276344.2_Missense_Mutation_p.P55S|MAGEA4_ENST00000370340.3_Missense_Mutation_p.P55S|MAGEA4_ENST00000393921.1_Missense_Mutation_p.P55S			P43358	MAGA4_HUMAN	melanoma antigen family A, 4	55							protein binding			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)	27	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGGAAGTGCCTGCTGCTGA	0.627													T	151092299	C	T	151092299	3	4	687	1	0	0	0	0	1	0	0	0	9241	739	26	2	165	2	MAGEA4	23	151092299	Missense_Mutation	SNP	C	TCGA-RY-A83Z-01A-11D-A36O-08	27	151092299	4178261	65	53613			1	83		2	2	28	C		5.756254e-05
ATP6AP1	537	broad.mit.edu	37	chrX	153664056	153664056	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaacgtaatgggggagcAgttctcctacgccagcgact	9	10	11	11	3	2	0	1	0	1	0	3	2	2	1	2	2	4	3	2	2	3	4			TCGA-RY-A83Z-01A-11D-A36O-08	TCGA-RY-A83Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d271a752-7ca6-4aba-8228-ef9170578a6d	dc098538-0bed-4cdf-8129-95b37d2fb1a2	g.chrX:153664056A>T	ENST00000369762.2	+	10	1293	c.1232A>T	c.(1231-1233)cAg>cTg	p.Q411L		NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	411					ATP hydrolysis coupled proton transport	integral to membrane|proton-transporting V-type ATPase, V1 domain|vacuolar membrane	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ATGGGGGAGCAGTTCTCCTAC	0.597													T	153664056	A	T	153664056	3	4	687	1	0	0	0	0	1	0	0	0	1170	188	7	5	1270	5	ATP6AP1	23	153664056	Missense_Mutation	SNP	A	TCGA-RY-A83Z-01A-11D-A36O-08	2571757	153664056	1606504	66	53614											
SCAMP3	10067	broad.mit.edu	37	chr1	155226515	155226515	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgccagtgaagagcagggCgaccagcagcatgagcacgg	13	3	15	10	2	0	3	0	2	0	1	0	4	0	3	2	2	5	4	2	2	2	0			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr1:155226515C>T	ENST00000355379.3	-	7	1047	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	SCAMP3_ENST00000472397.1_5'UTR|SCAMP3_ENST00000302631.3_Missense_Mutation_p.A283T	NM_052837.2	NP_443069.1	O14828	SCAM3_HUMAN	secretory carrier membrane protein 3	283					post-Golgi vesicle-mediated transport|protein transport	integral to membrane				breast(1)|endometrium(3)|large_intestine(3)|lung(7)|ovary(4)|urinary_tract(1)	19	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			AAGAGCAGGGCGACCAGCAGC	0.582													T	155226515	C	T	155226515	3	4	688	1	0	0	0	0	1	0	0	0	13964	768	27	1	204	1	SCAMP3	1	155226515	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		155226515	94024106	1	53615											
FCRL2	79368	broad.mit.edu	37	chr1	157737385	157737385	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctgcaggctcagcaaagggCctggccccatggctgttgca	7	7	13	14	0	1	0	1	0	0	0	1	0	1	0	4	4	3	6	4	4	1	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr1:157737385C>T	ENST00000469986.1	-	1	179	c.39G>A	c.(37-39)agG>agA	p.R13R	FCRL2_ENST00000368181.4_Intron|FCRL2_ENST00000392274.3_Intron|FCRL2_ENST00000361516.3_Intron			Q96LA5	FCRL2_HUMAN	Fc receptor-like 2	0					cell-cell signaling	integral to membrane|plasma membrane|soluble fraction	receptor activity|SH3/SH2 adaptor activity			central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(29)|ovary(1)|pancreas(1)|prostate(3)|skin(2)	51	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			CAGCAAAGGGCCTGGCCCCAT	0.448													T	157737385	C	T	157737385	2	4	688	1	0	0	0	0	0	0	0	1	5844	754	26	2		2	FCRL2	1	157737385	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08	2510870	157737385	91513236	2	53616											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	688	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		209113112	34086261	3	53617											
ANO7	50636	broad.mit.edu	37	chr2	242135327	242135327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtgacccatgaccttgccGcatgaggcctgagggcatgg	8	7	14	12	1	0	4	0	4	0	0	0	4	0	4	4	3	1	2	4	3	0	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr2:242135327G>A	ENST00000402530.3	+	4	638	c.535G>A	c.(535-537)Gca>Aca	p.A179T	ANO7_ENST00000402430.3_Intron|ANO7_ENST00000274979.8_Intron	NM_001001666.3	NP_001001666.1	Q6IWH7	ANO7_HUMAN	anoctamin 7	0						cell junction|chloride channel complex|cytosol	chloride channel activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(14)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	32						TGACCTTGCCGCATGAGGCCT	0.632													A	242135327	G	A	242135327	3	1	688	1	0	0	0	0	1	0	0	0	702	1087	38	1	552	1	ANO7	2	242135327	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	33022215	242135327	1064046	4	53618											
TNFAIP8	25816	broad.mit.edu	37	chr5	118728917	118728917	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caccaaatcattcagcgccaCctcactgccaagtcacatgg	12	7	6	16	1	4	0	4	0	0	0	4	0	4	0	4	1	2	0	4	1	2	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr5:118728917C>T	ENST00000504771.2	+	2	2215	c.438C>T	c.(436-438)caC>caT	p.H146H	TNFAIP8_ENST00000504642.1_Silent_p.H148H|TNFAIP8_ENST00000503646.1_Silent_p.H146H|TNFAIP8_ENST00000513374.1_Silent_p.H158H|TNFAIP8_ENST00000415806.2_3'UTR|TNFAIP8_ENST00000274456.6_Silent_p.H136H	NM_014350.2	NP_055165.2	O95379	TFIP8_HUMAN	tumor necrosis factor, alpha-induced protein 8	146					anti-apoptosis|apoptosis|negative regulation of anti-apoptosis	cytoplasm	caspase inhibitor activity|protein binding			ovary(1)	1		all_cancers(142;0.0317)|Prostate(80;0.111)|Breast(839;0.231)		Epithelial(69;4.63e-83)|OV - Ovarian serous cystadenocarcinoma(64;1.39e-82)|all cancers(49;4.88e-75)|GBM - Glioblastoma multiforme(465;0.00338)|BRCA - Breast invasive adenocarcinoma(61;0.0148)|COAD - Colon adenocarcinoma(49;0.0829)		TTCAGCGCCACCTCACTGCCA	0.408													T	118728917	C	T	118728917	2	4	688	1	0	0	0	0	0	0	0	1	16376	506	18	2		2	TNFAIP8	5	118728917	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		118728917	62186343	5	53619											
FGD2	221472	broad.mit.edu	37	chr6	36989372	36989372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcctgagggagacatccagGagcaggaggtaaatgaaggc	13	4	17	7	0	0	3	0	2	0	1	1	6	1	5	2	6	1	2	2	6	3	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr6:36989372G>A	ENST00000274963.8	+	12	1489	c.1318G>A	c.(1318-1320)Gag>Aag	p.E440K		NM_173558.3	NP_775829.2	Q7Z6J4	FGD2_HUMAN	FYVE, RhoGEF and PH domain containing 2	440					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|early endosome membrane|Golgi apparatus|lamellipodium|nucleus|ruffle membrane	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	25						AGACATCCAGGAGCAGGAGGT	0.557											OREG0017395	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	36989372	G	A	36989372	3	1	688	1	0	0	0	0	1	0	0	0	5882	1175	41	2	1364	2	FGD2	6	36989372	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		36989372	134125695	6	53620											
TRIM24	8805	broad.mit.edu	37	chr7	138263957	138263957	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctactacaggccaattaTccaagaagcatactcacctc	13	11	4	13	0	2	1	1	0	1	1	4	1	3	1	3	1	4	1	3	1	7	5			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr7:138263957T>C	ENST00000343526.4	+	15	2480	c.2265T>C	c.(2263-2265)taT>taC	p.Y755Y	TRIM24_ENST00000415680.2_Silent_p.Y721Y			O15164	TIF1A_HUMAN	tripartite motif containing 24	755	Nuclear receptor binding site (NRBS).				cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AGGCCAATTATCCAAGAAGCA	0.398													C	138263957	T	C	138263957	2	2	688	1	0	0	0	0	0	0	0	1	16599	1442	50	3		3	TRIM24	7	138263957	Silent	SNP	T	TCGA-RY-A840-01A-11D-A36O-08		138263957	20874706	7	53621											
GML	2765	broad.mit.edu	37	chr8	143922564	143922564	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgagatgccatgactgtgCggtcataaatgacttcaact	11	13	9	8	1	2	3	2	3	0	1	2	4	2	3	1	1	3	0	1	1	3	3	rs138790796	by1000genomes	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr8:143922564C>T	ENST00000220940.1	+	3	194	c.104C>T	c.(103-105)gCg>gTg	p.A35V		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	35	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane				NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CATGACTGTGCGGTCATAAAT	0.463													T	143922564	C	T	143922564	3	4	688	1	0	0	0	0	1	0	0	0	6548	768	27	1	110	1	GML	8	143922564	Missense_Mutation	SNP	C	TCGA-RY-A840-01A-11D-A36O-08		143922564	2441458	8	53622											
GRIN1	2902	broad.mit.edu	37	chr9	140062230	140062230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatttctattttgcagcagtAccatcccactgatatcacgg	10	14	6	11	1	2	1	1	1	1	0	3	1	3	1	2	1	3	3	2	1	4	7			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr9:140062230A>G	ENST00000315048.3	+	20	3802	c.2705A>G	c.(2704-2706)tAc>tGc	p.Y902C	GRIN1_ENST00000371560.3_Missense_Mutation_p.Y886C|GRIN1_ENST00000371550.4_3'UTR|GRIN1_ENST00000371561.3_3'UTR|GRIN1_ENST00000371559.4_Missense_Mutation_p.Y865C|GRIN1_ENST00000371546.4_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.Y923C|GRIN1_ENST00000371555.4_3'UTR			Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	0					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	TTGCAGCAGTACCATCCCACT	0.682													G	140062230	A	G	140062230	3	3	688	1	0	0	0	0	1	0	0	0	6833	391	14	3	2971	3	GRIN1	9	140062230	Missense_Mutation	SNP	A	TCGA-RY-A840-01A-11D-A36O-08		140062230	1151201	9	53623											
COL13A1	1305	broad.mit.edu	37	chr10	71690264	71690264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggcacccagggagcccaGgagagaagggggaaaaaggg	14	0	19	8	1	0	1	0	0	0	1	0	5	0	4	2	6	1	1	2	6	3	0			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr10:71690264G>A	ENST00000356340.3	+	28	2142	c.1606G>A	c.(1606-1608)Gga>Aga	p.G536R	COL13A1_ENST00000398978.3_Missense_Mutation_p.G536R|COL13A1_ENST00000520267.1_Missense_Mutation_p.G479R|COL13A1_ENST00000398974.3_Missense_Mutation_p.G524R|COL13A1_ENST00000398964.3_Missense_Mutation_p.G507R|COL13A1_ENST00000398966.3_Missense_Mutation_p.G514R|COL13A1_ENST00000398968.3_Missense_Mutation_p.G517R|COL13A1_ENST00000398973.3_Missense_Mutation_p.G536R|COL13A1_ENST00000520133.1_Missense_Mutation_p.G485R|COL13A1_ENST00000354547.3_Missense_Mutation_p.G514R|COL13A1_ENST00000522165.1_Missense_Mutation_p.G517R|COL13A1_ENST00000398972.3_Missense_Mutation_p.G536R|COL13A1_ENST00000398971.3_Missense_Mutation_p.G536R|COL13A1_ENST00000357811.3_Missense_Mutation_p.G514R|COL13A1_ENST00000517713.1_Missense_Mutation_p.G514R|COL13A1_ENST00000398969.3_Missense_Mutation_p.G479R			Q5TAT6	CODA1_HUMAN	collagen, type XIII, alpha 1	536	Triple-helical region 3 (COL3).				cell differentiation|cell-cell adhesion|cell-matrix adhesion|endochondral ossification|morphogenesis of a branching structure	collagen type XIII|integral to membrane	extracellular matrix structural constituent|heparin binding|protein binding			endometrium(5)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	28					Atorvastatin(DB01076)|Simvastatin(DB00641)	AGGGAGCCCAGGAGAGAAGGG	0.632													A	71690264	G	A	71690264	3	1	688	1	0	0	0	0	1	0	0	0	3701	1001	35	2	1720	2	COL13A1	10	71690264	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		71690264	63844483	10	53624											
STX3	6809	broad.mit.edu	37	chr11	59564807	59564807	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttgctgggcattttagcaTtgattattggactttccgtt	6	19	10	6	1	0	1	0	1	0	0	1	2	1	2	1	2	2	5	1	2	2	8			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:59564807T>C	ENST00000535361.1	+	9	1274	c.727T>C	c.(727-729)Ttg>Ctg	p.L243L	STX3_ENST00000337979.4_Silent_p.L280L|STX3_ENST00000529177.1_Intron|STX3_ENST00000300150.7_Silent_p.L249L|STX3_ENST00000437946.2_Intron			Q13277	STX3_HUMAN	syntaxin 3	280	t-SNARE coiled-coil homology.				cellular response to oxidative stress|intracellular protein transport|neuron projection development|neurotransmitter transport	apical plasma membrane|azurophil granule|cell-cell junction|growth cone|integral to membrane|plasma membrane enriched fraction|SNARE complex|specific granule	arachidonic acid binding|SNAP receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|skin(1)	13						CATTTTAGCATTGATTATTGG	0.388													C	59564807	T	C	59564807	2	2	688	1	0	0	0	0	0	0	0	1	15442	1490	52	3		3	STX3	11	59564807	Silent	SNP	T	TCGA-RY-A840-01A-11D-A36O-08		59564807	75441709	11	53625											
MMP12	4321	broad.mit.edu	37	chr11	102737945	102737945	+	RNA	DEL	A	A	-																															attttccactgttttctgacAaaaaaaatttaaaggcagaa																								rs28381681		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr11:102737945delA	ENST00000532855.1	-	0	1007							P39900	MMP12_HUMAN	matrix metallopeptidase 12 (macrophage elastase)						positive regulation of epithelial cell proliferation involved in wound healing|proteolysis|wound healing, spreading of epidermal cells	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	26		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.014)	Acetohydroxamic Acid(DB00551)	GTTTTCTGACAAAAAAAATTT	0.338													-	102737945	A	-	102737945	6	5	688	0	1	1	0	1	0	0	0	0	9726	145	5	0		0	MMP12	11	102737945	RNA	DEL	A	TCGA-RY-A840-01A-11D-A36O-08	43173138	102737945	32268571	12	53626											
LCP1	3936	broad.mit.edu	37	chr13	46717525	46717525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agagctggaagatgaccaggGcatctgataagtcactgaac	14	7	12	8	0	2	5	1	3	1	2	2	6	2	6	1	2	2	2	1	2	3	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr13:46717525G>A	ENST00000398576.2	-	15	1656	c.1268C>T	c.(1267-1269)gCc>gTc	p.A423V	LCP1_ENST00000323076.2_Missense_Mutation_p.A423V			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	423	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		GATGACCAGGGCATCTGATAA	0.413			T	BCL6	NHL								A	46717525	G	A	46717525	3	1	688	1	0	0	0	0	1	0	0	0	8750	1203	42	2	635	2	LCP1	13	46717525	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		46717525	68452353	13	53627											
NEDD8	4738	broad.mit.edu	37	chr14	24687634	24687634	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaatctcctttccggtcaGcgtctgaaacaggcaatggt	9	11	9	12	2	4	1	2	1	2	0	6	1	5	1	2	3	2	1	2	3	3	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr14:24687634G>A	ENST00000250495.5	-	2	208	c.22C>T	c.(22-24)Ctg>Ttg	p.L8L	NEDD8-MDP1_ENST00000534348.1_Silent_p.L8L|NEDD8_ENST00000524927.1_Silent_p.L8L|NEDD8-MDP1_ENST00000604306.1_5'UTR	NM_006156.2	NP_006147.1			neural precursor cell expressed, developmentally down-regulated 8											breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5				GBM - Glioblastoma multiforme(265;0.0186)		TTTCCGGTCAGCGTCTGAAAC	0.423													A	24687634	G	A	24687634	2	1	688	1	0	0	0	0	0	0	0	1	10388	962	34	2		2	NEDD8	14	24687634	Silent	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		24687634	82661906	14	53628											
LRRK1	79705	broad.mit.edu	37	chr15	101528897	101528897	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccttggcttgccagcgaggGcacctgggggttgtgaagct	5	9	17	10	1	0	1	0	1	0	0	0	2	0	1	3	4	3	4	3	4	1	3			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr15:101528897G>A	ENST00000284395.5	+	6	883	c.483G>A	c.(481-483)ggG>ggA	p.G161G	LRRK1_ENST00000532029.2_Silent_p.G164G|LRRK1_ENST00000388948.3_Silent_p.G164G			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	164					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCCAGCGAGGGCACCTGGGGG	0.627													A	101528897	G	A	101528897	2	1	688	1	0	0	0	0	0	0	0	1	9102	1190	42	2		2	LRRK1	15	101528897	Silent	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		101528897	1002495	15	53629											
ACSM2B	348158	broad.mit.edu	37	chr16	20576155	20576155	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaagtccctgaacttttcGcagccaatgcatgttcaggc	10	10	9	12	1	1	1	1	1	0	0	3	1	2	1	2	1	3	4	2	1	3	3			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr16:20576155G>A	ENST00000329697.6	-	2	181	c.13C>T	c.(13-15)Cga>Tga	p.R5*	ACSM2B_ENST00000565232.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000567001.1_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000414188.2_Nonsense_Mutation_p.R5*|ACSM2B_ENST00000565322.1_Intron	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	5					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding	p.R5*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						TGAACTTTTCGCAGCCAATGC	0.493													A	20576155	G	A	20576155	4	1	688	1	0	0	0	0	0	1	0	0	184	1095	38	1	1772	1	ACSM2B	16	20576155	Nonsense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		20576155	69778598	16	53630											
SMARCA4	6597	broad.mit.edu	37	chr19	11134287	11134287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacgactcaagaaggaagtcGaggcccagttgcccgaaaag	14	4	13	10	3	1	1	1	0	0	1	2	6	1	2	2	2	1	1	2	2	5	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:11134287G>A	ENST00000358026.2	+	20	3237	c.2953G>A	c.(2953-2955)Gag>Aag	p.E985K	SMARCA4_ENST00000429416.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000450717.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000590574.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000589677.1_Missense_Mutation_p.E985K|SMARCA4_ENST00000444061.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000413806.3_Missense_Mutation_p.E985K|SMARCA4_ENST00000344626.4_Missense_Mutation_p.E985K|SMARCA4_ENST00000541122.2_Missense_Mutation_p.E985K	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	985					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GAAGGAAGTCGAGGCCCAGTT	0.592			"F, N, Mis"		NSCLC								A	11134287	G	A	11134287	3	1	688	1	0	0	0	0	1	0	0	0	14864	1059	37	1	3027	1	SMARCA4	19	11134287	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		11134287	47994696	17	53631											
CPAMD8	27151	broad.mit.edu	37	chr19	17015311	17015311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcactgaagctcaagaatGtgcccttgtccacgtcccag	9	10	9	13	1	2	2	2	1	0	1	4	2	4	2	3	0	2	1	3	0	3	1			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:17015311G>A	ENST00000443236.1	-	31	4251	c.4220C>T	c.(4219-4221)aCa>aTa	p.T1407I		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1360						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						GCTCAAGAATGTGCCCTTGTC	0.582													A	17015311	G	A	17015311	3	1	688	1	0	0	0	0	1	0	0	0	3826	1377	48	2	1626	2	CPAMD8	19	17015311	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	5881024	17015311	42113672	18	53632											
CCDC106	29903	broad.mit.edu	37	chr19	56160918	56160918	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgcggtgccagctggAcaaattcatctcttctgctc	6	13	8	14	1	3	0	1	0	2	0	6	1	4	1	2	2	4	2	2	2	1	3			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr19:56160918A>C	ENST00000586790.1	+	3	1185	c.281A>C	c.(280-282)gAc>gCc	p.D94A	CCDC106_ENST00000308964.3_Missense_Mutation_p.D94A|CCDC106_ENST00000591578.1_Missense_Mutation_p.D94A|CCDC106_ENST00000588740.1_Missense_Mutation_p.D94A|CCDC106_ENST00000591241.1_Missense_Mutation_p.D59A			Q9BWC9	CC106_HUMAN	coiled-coil domain containing 106	94						nucleus				endometrium(2)|large_intestine(3)|lung(5)|skin(1)	11		Colorectal(82;0.00403)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.105)		TGCCAGCTGGACAAATTCATC	0.602													C	56160918	A	C	56160918	3	2	688	1	0	0	0	0	1	0	0	0	2767	275	10	5	291	5	CCDC106	19	56160918	Missense_Mutation	SNP	A	TCGA-RY-A840-01A-11D-A36O-08	39145607	56160918	2968065	19	53633											
FAM65C	140876	broad.mit.edu	37	chr20	49236599	49236599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcacagaccgaccccttccGcagcgtgccgtacatcttgg	7	8	10	16	4	1	1	0	0	1	1	2	2	2	1	5	1	4	3	5	1	1	3	rs148432777		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:49236599G>A	ENST00000327979.2	-	3	592	c.181C>T	c.(181-183)Cgg>Tgg	p.R61W	FAM65C_ENST00000045083.2_Missense_Mutation_p.R61W|FAM65C_ENST00000535356.1_Missense_Mutation_p.R65W			Q96MK2	FA65C_HUMAN	family with sequence similarity 65, member C	61										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|liver(1)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						GACCCCTTCCGCAGCGTGCCG	0.547													A	49236599	G	A	49236599	3	1	688	1	0	0	0	0	1	0	0	0	5651	1086	38	1	2739	1	FAM65C	20	49236599	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08		49236599	13788921	20	53634											
CDH4	1002	broad.mit.edu	37	chr20	60427938	60427938	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctacaacggctccgtggaCgagggctccaagccaggtga	9	6	14	12	3	1	1	0	1	1	0	3	3	3	2	3	4	3	2	3	4	3	1	rs146532439	byFrequency	TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr20:60427938C>T	ENST00000360469.5	+	6	949	c.861C>T	c.(859-861)gaC>gaT	p.D287D	CDH4_ENST00000543233.1_Silent_p.D213D	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	287	Cadherin 2.				adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCTCCGTGGACGAGGGCTCCA	0.597													T	60427938	C	T	60427938	2	4	688	1	0	0	0	0	0	0	0	1	3142	535	19	1		1	CDH4	20	60427938	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08	11191339	60427938	2597582	21	53635											
BAGE2	85319	broad.mit.edu	37	chr21	11049382	11049382	+	RNA	DEL	T	T	-																															ctctattatattacacaaacTtttagcgcctagtaataggg																										TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:11049382delT	ENST00000470054.1	-	0	659									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTACACAAACTTTTAGCGCCT	0.333													-	11049382	T	-	11049382	6	5	688	0	1	1	0	1	0	0	0	0	1297	1624	56	0		0	BAGE2	21	11049382	RNA	DEL	T	TCGA-RY-A840-01A-11D-A36O-08		11049382	37080513	22	53636											
FAM3B	54097	broad.mit.edu	37	chr21	42694893	42694893	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttcgcctccttgtgtgcCtggtattcggggtacctgct	2	15	12	12	2	1	0	0	0	1	0	4	0	2	0	4	3	3	3	4	3	2	5			TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:42694893C>G	ENST00000398652.3	+	3	246	c.180C>G	c.(178-180)gcC>gcG	p.A60A	FAM3B_ENST00000357985.2_Silent_p.A21A|FAM3B_ENST00000398646.3_Silent_p.A44A|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000398647.3_Intron			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	21					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CCTTGTGTGCCTGGTATTCGG	0.607													G	42694893	C	G	42694893	2	3	688	1	0	0	0	0	0	0	0	1	5608	668	24	4		4	FAM3B	21	42694893	Silent	SNP	C	TCGA-RY-A840-01A-11D-A36O-08	31645511	42694893	5435002	23	53637											
KRTAP10-8	386681	broad.mit.edu	37	chr21	46032420	46032420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaagcccgtgtgctgcGtgtccatctgctctggagct	4	11	13	13	2	2	0	0	0	2	0	3	1	3	1	2	1	6	5	2	1	1	0	rs143687357		TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chr21:46032420G>C	ENST00000334662.2	+	1	425	c.403G>C	c.(403-405)Gtg>Ctg	p.V135L	TSPEAR_ENST00000323084.4_Intron	NM_198695.2	NP_941968.2	P60410	KR108_HUMAN	keratin associated protein 10-8	135	19 X 5 AA repeats of C-C-X(3).					keratin filament				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	17						CGTGTGCTGCGTGTCCATCTG	0.632													C	46032420	G	C	46032420	3	2	688	1	0	0	0	0	1	0	0	0	8573	1145	40	4	405	4	KRTAP10-8	21	46032420	Missense_Mutation	SNP	G	TCGA-RY-A840-01A-11D-A36O-08	3337527	46032420	2097475	24	53638											
CACNA1F	778	broad.mit.edu	37	chrX	49062190	49062190	+	Frame_Shift_Del	DEL	C	C	-																															ccactggatctgccgaggtaCccctcccccgctgcgccctc																										TCGA-RY-A840-01A-11D-A36O-08	TCGA-RY-A840-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f91848fc-8730-434f-acab-791488ffe5eb	2a99e03f-024c-4750-81e0-7bcf3014ef3c	g.chrX:49062190delC	ENST00000376265.2	-	47	5650	c.5589delG	c.(5587-5589)gggfs	p.G1863fs	CACNA1F_ENST00000323022.5_Frame_Shift_Del_p.G1852fs|CACNA1F_ENST00000376251.1_Frame_Shift_Del_p.G1798fs	NM_005183.2	NP_005174.2	O60840	CAC1F_HUMAN	calcium channel, voltage-dependent, L type, alpha 1F subunit	1863					axon guidance|detection of light stimulus involved in visual perception	voltage-gated calcium channel complex	protein binding|voltage-gated calcium channel activity			autonomic_ganglia(1)|breast(8)|central_nervous_system(3)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(24)|ovary(5)|prostate(3)|skin(4)|urinary_tract(1)	85					Verapamil(DB00661)	TGCCGAGGTACCCCTCCCCCG	0.647													-	49062190	C	-	49062190	7	5	688	1	0	1	0	1	0	0	0	0	2569	494	18	0	352	0	CACNA1F	23	49062190	Frame_Shift_Del	DEL	C	TCGA-RY-A840-01A-11D-A36O-08		49062190	106208370	25	53639											
INPP5B	3633	broad.mit.edu	37	chr1	38355310	38355310	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatctcgcagtccaaacttcTgcatggataaaatatgagcc	13	11	7	10	1	2	1	0	1	2	0	4	2	3	2	2	1	3	2	2	1	5	4			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:38355310T>C	ENST00000373023.2	-	9	1049	c.956A>G	c.(955-957)cAg>cGg	p.Q319R	INPP5B_ENST00000373026.1_Missense_Mutation_p.Q319R|INPP5B_ENST00000373024.3_Missense_Mutation_p.Q239R|INPP5B_ENST00000373027.1_Missense_Mutation_p.Q75R|INPP5B_ENST00000458109.2_Missense_Mutation_p.Q2R	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	319					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TCCAAACTTCTGCATGGATAA	0.408													C	38355310	T	C	38355310	3	2	689	1	0	0	0	0	1	0	0	0	7813	1580	55	3	2089	3	INPP5B	1	38355310	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08		38355310	210895311	1	53640											
ATF6	22926	broad.mit.edu	37	chr1	161762027	161762027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaaactccagtgttccaGcaaaaaccatcattattcag	17	9	4	11	0	2	0	2	0	0	0	4	0	4	0	3	0	4	2	3	0	5	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:161762027G>A	ENST00000367942.3	+	6	665	c.598G>A	c.(598-600)Gca>Aca	p.A200T		NM_007348.3	NP_031374.2	P18850	ATF6A_HUMAN	activating transcription factor 6	200				VPAK -> IPPQ (in Ref. 4; AAH14969/ AAH71997).	positive regulation of transcription from RNA polymerase II promoter involved in unfolded protein response|protein folding	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(14)|ovary(3)|skin(1)|stomach(1)	34	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.00953)			CAGTGTTCCAGCAAAAACCAT	0.423													A	161762027	G	A	161762027	3	1	689	1	0	0	0	0	1	0	0	0	1089	971	34	2	620	2	ATF6	1	161762027	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	123406717	161762027	87488594	2	53641											
C1orf65	164127	broad.mit.edu	37	chr1	223567708	223567708	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcagaaggtccagatgacCctggagcgggagcgccggct	9	5	16	11	3	1	3	1	1	0	2	2	6	2	5	3	4	2	1	3	4	1	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:223567708C>T	ENST00000366875.3	+	1	994	c.891C>T	c.(889-891)acC>acT	p.T297T		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	297										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		TCCAGATGACCCTGGAGCGGG	0.672													T	223567708	C	T	223567708	2	4	689	1	0	0	0	0	0	0	0	1	2076	610	22	2		2	C1orf65	1	223567708	Silent	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	61805681	223567708	25682913	3	53642											
GGPS1	9453	broad.mit.edu	37	chr1	235505740	235505740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacttgggctctttttccaaAttagggatgattatgctaat	10	16	8	7	0	1	1	0	1	1	0	2	2	2	2	1	2	1	2	1	2	4	6			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr1:235505740A>G	ENST00000282841.5	+	4	788	c.556A>G	c.(556-558)Att>Gtt	p.I186V	GGPS1_ENST00000488594.1_Missense_Mutation_p.I186V|GGPS1_ENST00000391855.2_Missense_Mutation_p.I132V|GGPS1_ENST00000476121.1_Missense_Mutation_p.I186V|GGPS1_ENST00000358966.2_Missense_Mutation_p.I186V			O95749	GGPPS_HUMAN	geranylgeranyl diphosphate synthase 1	186					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	dimethylallyltranstransferase activity|farnesyltranstransferase activity|geranyltranstransferase activity|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)	8	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;1.39e-05)			CTTTTTCCAAATTAGGGATGA	0.358													G	235505740	A	G	235505740	3	3	689	1	0	0	0	0	1	0	0	0	6416	101	4	3	566	3	GGPS1	1	235505740	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08	11938032	235505740	13744881	4	53643											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	689	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		209113112	34086261	5	53644											
PITX1	5307	broad.mit.edu	37	chr5	134367042	134367042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggggtagcggttcctcTggaacgtggcctctagctct	4	12	14	11	3	3	0	0	0	3	0	5	1	4	1	2	5	3	3	2	5	3	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr5:134367042T>C	ENST00000265340.7	-	2	742	c.326A>G	c.(325-327)cAg>cGg	p.Q109R	PITX1_ENST00000506438.1_Missense_Mutation_p.Q109R	NM_002653.4	NP_002644.4	P78337	PITX1_HUMAN	paired-like homeodomain 1	109						nucleolus	sequence-specific DNA binding			central_nervous_system(1)|cervix(3)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)	READ - Rectum adenocarcinoma(2;0.0607)		GCGGTTCCTCTGGAACGTGGC	0.647													C	134367042	T	C	134367042	3	2	689	1	0	0	0	0	1	0	0	0	12031	1580	55	3	626	3	PITX1	5	134367042	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08		134367042	46548218	6	53645											
SENP6	26054	broad.mit.edu	37	chr6	76412532	76412533	+	Frame_Shift_Ins	INS	-	-	A																															gttcacaaaactcttctgccINSaagcctgtaattaagaagat																										TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr6:76412532_76412533insA	ENST00000370014.3	+	19	3079_3080	c.2460_2461insA	c.(2461-2463)aagfs	p.K821fs	SENP6_ENST00000541192.1_Intron|SENP6_ENST00000370010.2_Frame_Shift_Ins_p.K814fs|SENP6_ENST00000447266.2_Frame_Shift_Ins_p.K821fs	NM_001100409.1	NP_001093879.1	Q9GZR1	SENP6_HUMAN	SUMO1/sentrin specific peptidase 6	821	Protease.				proteolysis	cytoplasm|nucleus	cysteine-type peptidase activity			breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(105;0.189)				ACTCTTCTGCCAAGCCTGTAAT	0.381													A	76412533	-	A	76412532	7	5	689	1	0	1	1	0	0	0	0	0	14143	581	21	0	2534	0	SENP6	6	76412532	Frame_Shift_Ins	INS	-	TCGA-RY-A843-01A-11D-A36O-08		76412532	94702535	7	53646											
RBPMS	11030	broad.mit.edu	37	chr8	30335338	30335338	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatgagggttctcttataaaGctcacatctaaacaggtaag	14	12	8	7	0	3	1	1	1	2	0	4	1	3	1	0	2	2	3	0	2	7	6			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:30335338G>A	ENST00000320203.4	+	3	750	c.168G>A	c.(166-168)aaG>aaA	p.K56K	RBPMS_ENST00000520161.1_5'UTR|RBPMS_ENST00000538486.1_Silent_p.K56K|RBPMS_ENST00000519647.1_5'UTR|RBPMS_ENST00000287771.5_Silent_p.K56K|RBPMS_ENST00000397323.4_Silent_p.K56K|RBPMS_ENST00000517860.1_Silent_p.K56K|RBPMS_ENST00000520191.1_5'UTR|RBPMS_ENST00000339877.4_Silent_p.K56K	NM_006867.2	NP_006858.1	Q93062	RBPMS_HUMAN	RNA binding protein with multiple splicing	56	RRM.				positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of SMAD protein import into nucleus|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	cytoplasm|nucleus	nucleotide binding|poly(A) RNA binding|protein binding|transcription coactivator activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	13				KIRC - Kidney renal clear cell carcinoma(542;0.144)|Kidney(114;0.172)		CTCTTATAAAGCTCACATCTA	0.323													A	30335338	G	A	30335338	2	1	689	1	0	0	0	0	0	0	0	1	13251	962	34	2		2	RBPMS	8	30335338	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		30335338	116028684	8	53647											
TMEM74	157753	broad.mit.edu	37	chr8	109796648	109796648	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacacagcggtccaggTgagcccccagcctcgcactc	9	5	9	18	2	1	1	1	1	0	0	4	1	2	1	4	2	3	1	4	2	1	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:109796648T>C	ENST00000297459.3	-	2	858	c.680A>G	c.(679-681)cAc>cGc	p.H227R	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	227					autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			GCGGTCCAGGTGAGCCCCCAG	0.612													C	109796648	T	C	109796648	3	2	689	1	0	0	0	0	1	0	0	0	16302	1696	59	3	241	3	TMEM74	8	109796648	Missense_Mutation	SNP	T	TCGA-RY-A843-01A-11D-A36O-08	79461310	109796648	36567374	9	53648											
ASAP1	50807	broad.mit.edu	37	chr8	131104362	131104362	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagaggtctgggtgcttagaGggagtgttgaaggtgggcca	8	10	19	4	0	1	3	0	1	1	2	1	4	1	4	1	5	1	2	1	5	3	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr8:131104362G>C	ENST00000357668.1	-	24	2456	c.2429C>G	c.(2428-2430)cCt>cGt	p.P810R	ASAP1_ENST00000518721.1_Missense_Mutation_p.P810R			Q9ULH1	ASAP1_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 1	810	Pro-rich.				cilium morphogenesis|filopodium assembly|regulation of ARF GTPase activity|signal transduction	cytoplasm|membrane	ARF GTPase activator activity|cytoskeletal adaptor activity|SH3 domain binding|zinc ion binding			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(22)|ovary(6)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	68						GGTGCTTAGAGGGAGTGTTGA	0.537													C	131104362	G	C	131104362	3	2	689	1	0	0	0	0	1	0	0	0	1015	1000	35	4	984	4	ASAP1	8	131104362	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	21307714	131104362	15259660	10	53649											
LAMC3	10319	broad.mit.edu	37	chr9	133948658	133948658	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaggaaggtcccagtcaGccgaccaaatggagccacct	11	5	10	15	1	2	0	2	0	0	0	3	3	3	2	6	3	2	0	6	3	2	0			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr9:133948658G>A	ENST00000361069.4	+	20	3577	c.3444G>A	c.(3442-3444)caG>caA	p.Q1148Q	LAMC3_ENST00000480883.1_Intron	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	1148	Domain II and I.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		GTCCCAGTCAGCCGACCAAAT	0.582													A	133948658	G	A	133948658	2	1	689	1	0	0	0	0	0	0	0	1	8675	962	34	2		2	LAMC3	9	133948658	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		133948658	7264773	11	53650											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052057	81052057	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagctacagccacagccacgGccactgtggcagccctgcag	9	4	11	17	1	0	0	0	0	0	0	0	0	0	0	4	2	6	3	4	2	1	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:81052057G>A	ENST00000334512.5	+	11	1473	c.901G>A	c.(901-903)Gcc>Acc	p.A301T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	301	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			CACAGCCACGGCCACTGTGGC	0.637													A	81052057	G	A	81052057	3	1	689	1	0	0	0	0	1	0	0	0	17797	1203	42	2	927	2	ZMIZ1	10	81052057	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		81052057	54482690	12	53651											
TNKS2	80351	broad.mit.edu	37	chr10	93590772	93590772	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcaatgaaaagactaaagaGtaagtatacatttaatgatt	20	12	6	3	0	1	4	1	2	0	2	1	4	1	4	0	0	1	2	0	0	9	7			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:93590772G>C	ENST00000371627.4	+	10	1575		c.e10+1			NM_025235.3	NP_079511.1	Q9H2K2	TNKS2_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase 2						positive regulation of canonical Wnt receptor signaling pathway|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein polyubiquitination|Wnt receptor signaling pathway	Golgi membrane|microsome|nuclear envelope|pericentriolar material|perinuclear region of cytoplasm	NAD+ ADP-ribosyltransferase activity|protein binding			biliary_tract(1)|breast(1)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	48		Colorectal(252;0.162)				AGACTAAAGAGTAAGTATACA	0.313													C	93590772	G	C	93590772	5	2	689	1	0	0	0	0	0	0	1	0	16421	1043	36	4	1235	4	TNKS2	10	93590772	Splice_Site	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	12538715	93590772	41943975	13	53652											
CALHM1	255022	broad.mit.edu	37	chr10	105215289	105215289	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggtgtgacccagctccagGtcatggttcatggcctcgaa	7	10	13	11	1	2	1	2	1	0	0	4	2	3	1	3	4	1	2	3	4	1	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:105215289G>A	ENST00000329905.5	-	2	907	c.771C>T	c.(769-771)gaC>gaT	p.D257D	RP11-225H22.4_ENST00000411906.1_RNA	NM_001001412.3	NP_001001412.3	Q8IU99	CAHM1_HUMAN	calcium homeostasis modulator 1	257						endoplasmic reticulum membrane|integral to membrane|plasma membrane	calcium channel activity|identical protein binding			large_intestine(2)|liver(1)|lung(5)|ovary(1)	9						CCAGCTCCAGGTCATGGTTCA	0.637													A	105215289	G	A	105215289	2	1	689	1	0	0	0	0	0	0	0	1	2608	1252	44	2		2	CALHM1	10	105215289	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	11624517	105215289	30319458	14	53653											
KNDC1	85442	broad.mit.edu	37	chr10	135003172	135003172	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccagccaccccctgccaaCggtgagtgtgtgggttcccc	5	9	11	16	1	0	1	0	1	0	0	2	1	2	1	7	2	3	1	7	2	1	2			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr10:135003172C>T	ENST00000304613.3	+	8	1533	c.1512C>T	c.(1510-1512)aaC>aaT	p.N504N	KNDC1_ENST00000368571.2_Splice_Site_p.N439N|KNDC1_ENST00000368572.2_Splice_Site_p.N504N			Q76NI1	VKIND_HUMAN	kinase non-catalytic C-lobe domain (KIND) containing 1	504	KIND 2.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction					NS(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(27)|ovary(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	60		all_cancers(35;4.16e-10)|all_epithelial(44;2.07e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00145)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.173)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;8.77e-06)|Epithelial(32;1.13e-05)|all cancers(32;1.51e-05)		CCCCTGCCAACGGTGAGTGTG	0.622													T	135003172	C	T	135003172	5	4	689	1	0	0	0	0	0	0	1	0	8484	550	19	1	1542	1	KNDC1	10	135003172	Splice_Site	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	29787883	135003172	531575	15	53654											
KRAS	3845	broad.mit.edu	37	chr12	25398269	25398269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagctgtatcgtcaaggcaCtcttgcctacgccaccagct	8	11	8	14	2	2	0	1	0	1	0	3	0	2	0	3	1	4	4	3	1	4	4			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398269C>G	ENST00000311936.3	-	2	241	c.50G>C	c.(49-51)aGt>aCt	p.S17T	KRAS_ENST00000557334.1_Missense_Mutation_p.S17T|KRAS_ENST00000256078.4_Missense_Mutation_p.S17T|KRAS_ENST00000556131.1_Missense_Mutation_p.S17T	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	17					activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.S17N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CGTCAAGGCACTCTTGCCTAC	0.358		119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			G	25398269	C	G	25398269	3	3	689	1	0	0	0	0	1	0	0	0	8496	565	20	4	656	4	KRAS	12	25398269	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		25398269	108453626	16	53655			1	84		2	2	16	C		1.405176e-05
KRAS	3845	broad.mit.edu	37	chr12	25398284	25398284	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggcactcttgcctacgccaCcagctccaactaccacaagt	11	7	6	17	1	1	0	0	0	1	0	2	0	2	0	5	1	5	2	5	1	4	3	rs121913529		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:25398284C>G	ENST00000311936.3	-	2	226	c.35G>C	c.(34-36)gGt>gCt	p.G12A	KRAS_ENST00000557334.1_Missense_Mutation_p.G12A|KRAS_ENST00000256078.4_Missense_Mutation_p.G12A|KRAS_ENST00000556131.1_Missense_Mutation_p.G12A	NM_004985.3	NP_004976.2	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	12			G -> A (in a colorectal cancer sample; somatic mutation).|G -> C (in lung carcinoma; somatic mutation).|G -> D (in pancreatic carcinoma, GASC and lung carcinoma; somatic mutation).|G -> R (in lung cancer and bladder cancer; somatic mutation).|G -> S (in lung carcinoma and GASC; somatic mutation).|G -> V (in lung carcinoma, pancreatic carcinoma, colon cancer and GASC; somatic mutation).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	plasma membrane	GTP binding|GTPase activity|protein binding	p.G12D(8562)|p.G12V(5775)|p.G12A(1407)|p.G12F(46)|p.G12L(8)|p.G12I(4)|p.G12E(3)|p.G12W(3)|p.G12Y(2)|p.G12fs*3(1)|p.G12C(1)|p.G12N(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			GCCTACGCCACCAGCTCCAAC	0.348	G12A(KMS28BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(KPNSI9S_AUTONOMIC_GANGLIA)|G12A(MM1S_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(NCIH1573_LUNG)|G12A(NCIH2009_LUNG)|G12A(RERFLCAD1_LUNG)|G12A(RPMI8226_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12A(SW1116_LARGE_INTESTINE)|G12D(AGS_STOMACH)|G12D(ASPC1_PANCREAS)|G12D(COLO678_LARGE_INTESTINE)|G12D(HEC1A_ENDOMETRIUM)|G12D(HEC50B_ENDOMETRIUM)|G12D(HEYA8_OVARY)|G12D(HPAC_PANCREAS)|G12D(HPAFII_PANCREAS)|G12D(KARPAS620_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G12D(KP4_PANCREAS)|G12D(L33_PANCREAS)|G12D(LS180_LARGE_INTESTINE)|G12D(LS513_LARGE_INTESTINE)|G12D(MCAS_OVARY)|G12D(PANC0203_PANCREAS)|G12D(PANC0403_PANCREAS)|G12D(PANC0504_PANCREAS)|G12D(PANC0813_PANCREAS)|G12D(PANC1_PANCREAS)|G12D(PK1_PANCREAS)|G12D(PK59_PANCREAS)|G12D(SKLU1_LUNG)|G12D(SNUC2A_LARGE_INTESTINE)|G12D(SU8686_PANCREAS)|G12D(SUIT2_PANCREAS)|G12D(SW1990_PANCREAS)|G12V(A498_KIDNEY)|G12V(CAPAN2_PANCREAS)|G12V(CFPAC1_PANCREAS)|G12V(COLO668_LUNG)|G12V(CORL23_LUNG)|G12V(DANG_PANCREAS)|G12V(HCC56_LARGE_INTESTINE)|G12V(HUPT4_PANCREAS)|G12V(KP3_PANCREAS)|G12V(LCLC97TM1_LUNG)|G12V(NCIH2444_LUNG)|G12V(NCIH441_LUNG)|G12V(NCIH727_LUNG)|G12V(PANC0327_PANCREAS)|G12V(PATU8902_PANCREAS)|G12V(PATU8988S_PANCREAS)|G12V(QGP1_PANCREAS)|G12V(RCM1_LARGE_INTESTINE)|G12V(RERFLCAD2_LUNG)|G12V(RKN_OVARY)|G12V(SH10TC_STOMACH)|G12V(SHP77_LUNG)|G12V(SNGM_ENDOMETRIUM)|G12V(SW403_LARGE_INTESTINE)|G12V(SW480_LARGE_INTESTINE)|G12V(SW620_LARGE_INTESTINE)|G12V(SW900_LUNG)|G12V(YAPC_PANCREAS)	119	Mis		"pancreatic, colorectal, lung, thyroid, AML, others"				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)			G	25398284	C	G	25398284	3	3	689	1	0	0	0	0	1	0	0	0	8496	507	18	4	671	4	KRAS	12	25398284	Missense_Mutation	SNP	C	TCGA-RY-A843-01A-11D-A36O-08	15	25398284	108453611	17	53656			1	84		2	2	16	C		1.405176e-05
KRT6B	3854	broad.mit.edu	37	chr12	52841730	52841730	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttcttagcatccttgaggGccatctccccacgctgctca	6	12	8	15	1	3	1	1	1	2	0	5	1	4	1	4	1	2	4	4	1	1	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr12:52841730G>A	ENST00000252252.3	-	7	1303	c.1256C>T	c.(1255-1257)gCc>gTc	p.A419V		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	419	Coil 2.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		ATCCTTGAGGGCCATCTCCCC	0.577													A	52841730	G	A	52841730	3	1	689	1	0	0	0	0	1	0	0	0	8539	1203	42	2	450	2	KRT6B	12	52841730	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	27443446	52841730	81010165	18	53657											
VPS18	57617	broad.mit.edu	37	chr15	41191890	41191890	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggatgatgggggatggtGtgttgtatggggcattggac	6	12	19	4	0	0	1	0	1	0	0	0	4	0	4	1	7	0	3	1	7	1	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr15:41191890G>T	ENST00000220509.5	+	4	1213	c.874G>T	c.(874-876)Gtg>Ttg	p.V292L	VPS18_ENST00000558474.1_Intron	NM_020857.2	NP_065908.1	Q9P253	VPS18_HUMAN	vacuolar protein sorting 18 homolog (S. cerevisiae)	292					endosome organization|lysosome organization|protein transport	HOPS complex|late endosome membrane|lysosomal membrane	metal ion binding|protein binding			autonomic_ganglia(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	28		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;1.07e-05)|COAD - Colon adenocarcinoma(120;0.15)|BRCA - Breast invasive adenocarcinoma(123;0.164)		GGGGGATGGTGTGTTGTATGG	0.652													T	41191890	G	T	41191890	3	4	689	1	0	0	0	0	1	0	0	0	17296	1377	48	4	888	4	VPS18	15	41191890	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		41191890	61339502	19	53658											
DDX42	11325	broad.mit.edu	37	chr17	61890672	61890672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tacccacacgcataggattgGccgcacaggaagagcgggtg	11	5	14	11	3	0	1	0	0	0	1	0	3	0	3	2	4	2	2	2	4	3	3			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:61890672G>A	ENST00000578681.1	+	16	2361	c.1760G>A	c.(1759-1761)gGc>gAc	p.G587D	DDX42_ENST00000583590.1_Missense_Mutation_p.G587D|DDX42_ENST00000457800.2_Missense_Mutation_p.G587D|DDX42_ENST00000389924.2_Missense_Mutation_p.G587D|DDX42_ENST00000359353.5_Missense_Mutation_p.G468D	NM_007372.2	NP_031398.2	Q86XP3	DDX42_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 42	587	Helicase C-terminal.				protein localization|regulation of anti-apoptosis	Cajal body|cytoplasm|nuclear speck	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)	46						CATAGGATTGGCCGCACAGGA	0.498													A	61890672	G	A	61890672	3	1	689	1	0	0	0	0	1	0	0	0	4396	1203	42	2	1814	2	DDX42	17	61890672	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		61890672	19304538	20	53659											
DNAH17	8632	broad.mit.edu	37	chr17	76490800	76490800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaagtctctcagcgcccGcatgagcacctggtcctctg	6	10	11	14	2	3	2	1	2	2	0	5	2	4	2	3	1	2	3	3	1	1	1	rs144975660	by1000genomes	TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr17:76490800G>A	ENST00000389840.5	-	40	6227	c.6103C>T	c.(6103-6105)Cgg>Tgg	p.R2035W	RP11-559N14.5_ENST00000591373.1_RNA|DNAH17_ENST00000585328.1_Missense_Mutation_p.R2044W					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			CTCAGCGCCCGCATGAGCACC	0.627													A	76490800	G	A	76490800	3	1	689	1	0	0	0	0	1	0	0	0	4640	1086	38	1	7411	1	DNAH17	17	76490800	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08	14600128	76490800	4704410	21	53660											
SMCHD1	23347	broad.mit.edu	37	chr18	2750108	2750108	+	Frame_Shift_Del	DEL	T	T	-																															taatttgggagtattcagtgTttttgcccctaggtaagaac																										TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr18:2750108delT	ENST00000320876.6	+	31	4333	c.3995delT	c.(3994-3996)gttfs	p.V1332fs	SMCHD1_ENST00000261598.8_Frame_Shift_Del_p.V1332fs|RP11-703M24.5_ENST00000583546.1_RNA	NM_015295.2	NP_056110.2	A6NHR9	SMHD1_HUMAN	structural maintenance of chromosomes flexible hinge domain containing 1	1332					chromosome organization		ATP binding			NS(3)|breast(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(16)|lung(15)|pancreas(1)	45						GTATTCAGTGTTTTTGCCCCT	0.368													-	2750108	T	-	2750108	7	5	689	1	0	1	0	1	0	0	0	0	14882	1725	60	0	4117	0	SMCHD1	18	2750108	Frame_Shift_Del	DEL	T	TCGA-RY-A843-01A-11D-A36O-08		2750108	75327140	22	53661											
ZNF565	147929	broad.mit.edu	37	chr19	36674609	36674609	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcaaaaatgtctttttgtaGaaatttctcacacctggact	12	16	5	8	0	3	1	2	0	2	1	4	2	3	2	1	1	0	1	1	1	4	5			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr19:36674609G>A	ENST00000355114.5	-	5	1105	c.379C>T	c.(379-381)Cta>Tta	p.L127L	ZNF565_ENST00000304116.5_Silent_p.L87L|ZNF565_ENST00000392173.2_Silent_p.L87L			Q8N9K5	ZN565_HUMAN	zinc finger protein 565	87					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			large_intestine(4)|lung(4)|ovary(1)|skin(2)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.206)			TCTTTTTGTAGAAATTTCTCA	0.383													A	36674609	G	A	36674609	2	1	689	1	0	0	0	0	0	0	0	1	18097	933	33	2		2	ZNF565	19	36674609	Silent	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		36674609	22454374	23	53662											
FOXA2	3170	broad.mit.edu	37	chr20	22563350	22563350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttggggctctgctggatgGccatggtgatgagcgagatg	6	11	18	6	1	1	3	0	2	1	1	1	5	1	4	1	5	2	3	1	5	0	1			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:22563350G>A	ENST00000419308.2	-	2	714	c.530C>T	c.(529-531)gCc>gTc	p.A177V	FOXA2_ENST00000377115.4_Missense_Mutation_p.A171V	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	177					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					CTGCTGGATGGCCATGGTGAT	0.637													A	22563350	G	A	22563350	3	1	689	1	0	0	0	0	1	0	0	0	6039	1203	42	2	865	2	FOXA2	20	22563350	Missense_Mutation	SNP	G	TCGA-RY-A843-01A-11D-A36O-08		22563350	40462170	24	53663											
PDRG1	81572	broad.mit.edu	37	chr20	30539716	30539716	+	Frame_Shift_Del	DEL	C	C	-																															cacctcctcggcgagctcctCcacttctacaaggtaccgca																										TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr20:30539716delC	ENST00000202017.4	-	1	179	c.49delG	c.(49-51)gagfs	p.E18fs		NM_030815.2	NP_110442.1	Q9NUG6	PDRG1_HUMAN	p53 and DNA-damage regulated 1	18					protein folding	prefoldin complex	unfolded protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	8			Colorectal(19;0.00306)|COAD - Colon adenocarcinoma(19;0.0347)			GCGAGCTCCTCCACTTCTACA	0.711											OREG0025859	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	30539716	C	-	30539716	7	5	689	1	0	1	0	1	0	0	0	0	11766	864	30	0	372	0	PDRG1	20	30539716	Frame_Shift_Del	DEL	C	TCGA-RY-A843-01A-11D-A36O-08	7976366	30539716	32485804	25	53664											
TMPRSS15	5651	broad.mit.edu	37	chr21	19726144	19726144	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagtaacttggttggaaaaaAttcttattgtgccaggatta	13	14	9	5	0	1	0	0	0	1	0	1	2	1	2	1	3	2	2	1	3	6	7			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr21:19726144A>G	ENST00000284885.3	-	9	950	c.917T>C	c.(916-918)aTt>aCt	p.I306T		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	306	CUB 1.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GTTGGAAAAAATTCTTATTGT	0.323													G	19726144	A	G	19726144	3	3	689	1	0	0	0	0	1	0	0	0	16346	101	4	3	2210	3	TMPRSS15	21	19726144	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08		19726144	28403751	26	53665											
RTDR1	27156	broad.mit.edu	37	chr22	23406094	23406094	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcacctgacattaaggagCgcacgggcggccttgctgcg	7	7	13	14	4	1	1	1	1	0	0	1	2	1	2	3	3	3	2	3	3	1	2			TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chr22:23406094C>T	ENST00000216036.4	-	5	835	c.639G>A	c.(637-639)gcG>gcA	p.A213A		NM_014433.2	NP_055248.1	Q9UHP6	RTDR1_HUMAN	rhabdoid tumor deletion region gene 1	213							binding			breast(1)|endometrium(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	18	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.175)		CATTAAGGAGCGCACGGGCGG	0.632													T	23406094	C	T	23406094	2	4	689	1	0	0	0	0	0	0	0	1	13810	755	27	1		1	RTDR1	22	23406094	Silent	SNP	C	TCGA-RY-A843-01A-11D-A36O-08		23406094	27898472	27	53666											
OCRL	4952	broad.mit.edu	37	chrX	128703312	128703312	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatgttaatcagcttaattAtcggagtcacatggaactga	15	12	8	6	1	2	1	2	1	0	0	3	3	2	3	0	2	2	2	0	2	5	3	rs137853847		TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:128703312A>G	ENST00000371113.4	+	15	1703	c.1538A>G	c.(1537-1539)tAt>tGt	p.Y513C	OCRL_ENST00000357121.5_Missense_Mutation_p.Y513C	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	513			Y -> C (in OCRL; dbSNP:rs137853847).		regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	clathrin-coated vesicle|cytosol|early endosome|Golgi stack|Golgi-associated vesicle	GTPase activator activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						CAGCTTAATTATCGGAGTCAC	0.423													G	128703312	A	G	128703312	3	3	689	1	0	0	0	0	1	0	0	0	10899	449	16	3	1596	3	OCRL	23	128703312	Missense_Mutation	SNP	A	TCGA-RY-A843-01A-11D-A36O-08		128703312	26567248	28	53667											
MAGEA8	4107	broad.mit.edu	37	chrX	149013062	149013062	+	Frame_Shift_Del	DEL	A	A	-																															tcatcatgcttcttgggcagAagagtcagcgctacaaggct																										TCGA-RY-A843-01A-11D-A36O-08	TCGA-RY-A843-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9c1fad79-014e-49fb-bacd-0862b484a2a7	06d91337-526a-41ce-8687-b598ea86b07c	g.chrX:149013062delA	ENST00000535454.1	+	4	565	c.16delA	c.(16-18)aagfs	p.K6fs	MAGEA8_ENST00000542674.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000286482.1_Frame_Shift_Del_p.K6fs|MAGEA8_ENST00000493910.1_3'UTR	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	6										NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					TCTTGGGCAGAAGAGTCAGCG	0.602													-	149013062	A	-	149013062	7	5	689	1	0	1	0	1	0	0	0	0	9244	247	9	0	18	0	MAGEA8	23	149013062	Frame_Shift_Del	DEL	A	TCGA-RY-A843-01A-11D-A36O-08	20309750	149013062	6257498	29	53668											
TDRD5	163589	broad.mit.edu	37	chr1	179562904	179562904	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tatgtttgaagtgcttaatgCggcttcagatgtcatttctg	8	17	10	6	1	3	2	2	1	1	1	3	2	3	2	0	1	2	3	0	1	3	5			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:179562904C>T	ENST00000444136.1	+	3	792	c.542C>T	c.(541-543)gCg>gTg	p.A181V	TDRD5_ENST00000294848.8_Missense_Mutation_p.A181V|TDRD5_ENST00000367614.1_Missense_Mutation_p.A181V	NM_001199085.1|NM_001199089.1	NP_001186014.1|NP_001186018.1	Q8NAT2	TDRD5_HUMAN	tudor domain containing 5	181	Lotus/OST-HTH 2.				DNA methylation involved in gamete generation|P granule organization|spermatid development	chromatoid body|pi-body	nucleic acid binding			NS(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(44)|ovary(2)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	77						GTGCTTAATGCGGCTTCAGAT	0.408													T	179562904	C	T	179562904	3	4	690	1	0	0	0	0	1	0	0	0	15833	768	27	1	548	1	TDRD5	1	179562904	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		179562904	69687717	1	53669											
SUSD4	55061	broad.mit.edu	37	chr1	223536659	223536659	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgaagcacagcgccagctGaaaccacaggatcacggcca	13	2	11	15	3	1	1	1	1	0	0	1	3	1	2	4	2	4	2	4	2	2	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:223536659G>A	ENST00000343846.3	-	1	742	c.109C>T	c.(109-111)Cag>Tag	p.Q37*	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000484758.2_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366877.3_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000366878.4_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000344029.6_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000494793.2_Nonsense_Mutation_p.Q37*|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	37						integral to membrane				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		AGCGCCAGCTGAAACCACAGG	0.617													A	223536659	G	A	223536659	4	1	690	1	0	0	0	0	0	1	0	0	15506	1299	45	2	1548	2	SUSD4	1	223536659	Nonsense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	43973755	223536659	25713962	2	53670											
URB2	9816	broad.mit.edu	37	chr1	229770818	229770818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtggccttgctgagccagcTttgctggtcggcctgcaggc	3	10	16	12	1	0	1	0	1	0	0	1	1	0	1	3	5	5	4	3	5	0	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr1:229770818T>A	ENST00000258243.2	+	4	594	c.458T>A	c.(457-459)cTt>cAt	p.L153H		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	153						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						CTGAGCCAGCTTTGCTGGTCG	0.587													A	229770818	T	A	229770818	3	1	690	1	0	0	0	0	1	0	0	0	17127	1609	56	5	468	5	URB2	1	229770818	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	6234159	229770818	19479803	3	53671											
CRIM1	51232	broad.mit.edu	37	chr2	36737265	36737265	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccataatctgtgacaagtaTtgtccacttggattgctgta	10	14	8	9	0	1	1	0	1	1	0	2	2	2	2	2	1	1	3	2	1	4	6			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:36737265T>C	ENST00000280527.2	+	9	2008	c.1641T>C	c.(1639-1641)taT>taC	p.Y547Y		NM_016441.2	NP_057525.1	Q9NZV1	CRIM1_HUMAN	cysteine rich transmembrane BMP regulator 1 (chordin-like)	547	Antistasin-like 3.				nervous system development|regulation of cell growth	extracellular region|integral to membrane|plasma membrane	insulin-like growth factor binding|insulin-like growth factor receptor activity|serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(15)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	45		all_hematologic(82;0.131)|Acute lymphoblastic leukemia(82;0.154)				GTGACAAGTATTGTCCACTTG	0.403													C	36737265	T	C	36737265	2	2	690	1	0	0	0	0	0	0	0	1	3904	1500	52	3		3	CRIM1	2	36737265	Silent	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		36737265	206462108	4	53672											
SRBD1	55133	broad.mit.edu	37	chr2	45807076	45807076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtttctcaagcagtgccCtggctgctccttctaagccc	5	12	9	15	0	2	0	1	0	2	0	4	0	3	0	3	2	4	4	3	2	2	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:45807076C>T	ENST00000263736.4	-	7	1072	c.1010G>A	c.(1009-1011)aGg>aAg	p.R337K		NM_018079.4	NP_060549.4	Q8N5C6	SRBD1_HUMAN	S1 RNA binding domain 1	337					nucleobase, nucleoside, nucleotide and nucleic acid metabolic process		hydrolase activity, acting on ester bonds|RNA binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(13)|large_intestine(8)|lung(15)|skin(2)|stomach(1)|urinary_tract(1)	49		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	LUSC - Lung squamous cell carcinoma(58;0.0917)|Lung(47;0.154)			AAGCAGTGCCCTGGCTGCTCC	0.438													T	45807076	C	T	45807076	3	4	690	1	0	0	0	0	1	0	0	0	15229	681	24	2	2037	2	SRBD1	2	45807076	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	9069811	45807076	197392297	5	53673											
IMMT	10989	broad.mit.edu	37	chr2	86398455	86398455	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagaaataatttgagcCgcttctgtaggtgctataaa	12	12	10	7	1	1	2	0	1	1	1	1	2	1	2	1	1	3	5	1	1	6	6			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:86398455C>T	ENST00000410111.3	-	5	822	c.435G>A	c.(433-435)gcG>gcA	p.A145A	IMMT_ENST00000254636.5_Intron|IMMT_ENST00000442664.2_Silent_p.A145A|IMMT_ENST00000449247.2_Intron|IMMT_ENST00000409051.2_Intron	NM_001100169.1|NM_001100170.1|NM_006839.2	NP_001093639.1|NP_001093640.1|NP_006830.2	Q16891	IMMT_HUMAN	inner membrane protein, mitochondrial	145				EAAQIISA -> ARAPASLT (in Ref. 9; AAF73126).		integral to mitochondrial inner membrane	protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						TAATTTGAGCCGCTTCTGTAG	0.433													T	86398455	C	T	86398455	2	4	690	1	0	0	0	0	0	0	0	1	7776	639	23	1		1	IMMT	2	86398455	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	40591379	86398455	156800918	6	53674											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	690	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	122714657	209113112	34086261	7	53675											
SCN10A	6336	broad.mit.edu	37	chr3	38812790	38812790	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccagggtaatgacgctaaaAtccagccagttccaaggatc	13	7	10	11	1	0	1	0	1	0	0	3	2	2	2	4	2	1	3	4	2	4	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr3:38812790A>G	ENST00000449082.2	-	4	578	c.579T>C	c.(577-579)gaT>gaC	p.D193D		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	193					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	TGACGCTAAAATCCAGCCAGT	0.448													G	38812790	A	G	38812790	2	3	690	1	0	0	0	0	0	0	0	1	14005	98	4	3		3	SCN10A	3	38812790	Silent	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		38812790	159209640	8	53676											
TEC	7006	broad.mit.edu	37	chr4	48173436	48173436	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctttgtggactaggtgcaaAaatgtaaagtgtgttagcat	12	13	12	4	0	0	0	0	0	0	0	0	1	0	1	0	2	2	5	0	2	6	4			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:48173436A>G	ENST00000381501.3	-	4	431	c.274T>C	c.(274-276)Ttt>Ctt	p.F92L		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	92	PH.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGGTGCAAAAATGTAAAGT	0.363													G	48173436	A	G	48173436	3	3	690	1	0	0	0	0	1	0	0	0	15842	14	1	3	1681	3	TEC	4	48173436	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		48173436	142980840	9	53677											
UNC5C	8633	broad.mit.edu	37	chr4	96124101	96124101	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtgaagttttcctccccGaccaccaccacatcctgggg	7	9	10	15	1	0	1	0	1	0	0	3	2	3	1	7	3	0	1	7	3	1	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr4:96124101G>A	ENST00000453304.1	-	12	2265	c.1917C>T	c.(1915-1917)gtC>gtT	p.V639V		NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	639					apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TTTCCTCCCCGACCACCACCA	0.592													A	96124101	G	A	96124101	2	1	690	1	0	0	0	0	0	0	0	1	17095	1045	37	1		1	UNC5C	4	96124101	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	47950665	96124101	95030175	10	53678											
FAM193B	54540	broad.mit.edu	37	chr5	176951816	176951816	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctctcatttctgcccatgGtggggctggctcgcctggag	3	11	14	13	1	2	0	1	0	2	0	4	1	2	1	3	5	1	2	3	5	0	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr5:176951816G>C	ENST00000329540.5	-	9	3373	c.544C>G	c.(544-546)Cca>Gca	p.P182A	FAM193B_ENST00000514747.1_Missense_Mutation_p.P556A|FAM193B_ENST00000443375.2_Missense_Mutation_p.P523A			Q6IPW0	Q6IPW0_HUMAN	family with sequence similarity 193, member B	232										kidney(1)|large_intestine(3)	4						TCTGCCCATGGTGGGGCTGGC	0.622													C	176951816	G	C	176951816	3	2	690	1	0	0	0	0	1	0	0	0	5572	1261	44	4	814	4	FAM193B	5	176951816	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		176951816	3963444	11	53679											
SIRT5	23408	broad.mit.edu	37	chr6	13584419	13584419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaagcctccagcgtccacacGaaaccagatttgcctgaaaa	14	6	8	13	2	0	2	0	1	0	1	2	4	2	2	5	0	4	0	5	0	4	1	rs35634029		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:13584419G>A	ENST00000606117.1	+	3	373	c.77G>A	c.(76-78)cGa>cAa	p.R26Q	SIRT5_ENST00000359782.3_Missense_Mutation_p.R26Q|SIRT5_ENST00000397350.2_5'UTR|SIRT5_ENST00000379262.4_Missense_Mutation_p.R26Q	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	26					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	GCGTCCACACGAAACCAGATT	0.478													A	13584419	G	A	13584419	3	1	690	1	0	0	0	0	1	0	0	0	14435	1058	37	1	79	1	SIRT5	6	13584419	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		13584419	157530648	12	53680											
HIST1H4K	8362	broad.mit.edu	37	chr6	27799001	27799001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagaaagggacgctcaaccaCcgaaaccgtagagggtgcgg	13	4	14	10	4	1	2	1	0	0	2	1	4	1	3	3	3	3	2	3	3	5	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:27799001C>T	ENST00000357549.2	-	1	304	c.305G>A	c.(304-306)gGt>gAt	p.G102D		NM_003541.2	NP_003532.1	P62805	H4_HUMAN	histone cluster 1, H4k	102					CenH3-containing nucleosome assembly at centromere|negative regulation of megakaryocyte differentiation|phosphatidylinositol-mediated signaling|telomere maintenance	nucleoplasm|nucleosome	DNA binding|protein binding			breast(1)|endometrium(1)|lung(3)|ovary(1)|prostate(1)	7						CGCTCAACCACCGAAACCGTA	0.572													T	27799001	C	T	27799001	3	4	690	1	0	0	0	0	1	0	0	0	7230	507	18	2	10	2	HIST1H4K	6	27799001	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	14214582	27799001	143316066	13	53681											
OR12D2	26529	broad.mit.edu	37	chr6	29365261	29365261	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttcacctatatccatcctgCgttagagagcttcatggacc	9	13	7	12	1	2	1	2	0	0	1	4	3	4	2	4	1	2	2	4	1	3	5	rs150705301	byFrequency	TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:29365261C>T	ENST00000383555.2	+	1	846	c.785C>T	c.(784-786)gCg>gTg	p.A262V	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	262					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						ATCCATCCTGCGTTAGAGAGC	0.448													T	29365261	C	T	29365261	3	4	690	1	0	0	0	0	1	0	0	0	11007	768	27	1	787	1	OR12D2	6	29365261	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	1566260	29365261	141749806	14	53682											
CFB	629	broad.mit.edu	37	chr6	31901429	31901429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catttcactgggcgcagtgcGgacaggcttccgctttggtc	5	11	13	12	3	1	0	1	0	0	0	3	1	2	1	1	4	1	3	1	4	0	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:31901429G>A	ENST00000556679.1	+	3	354	c.299G>A	c.(298-300)cGg>cAg	p.R100Q	C2_ENST00000418949.2_Missense_Mutation_p.R162Q|CFB_ENST00000477310.1_Intron|C2_ENST00000452323.2_Missense_Mutation_p.R39Q|C2_ENST00000469372.1_5'UTR|C2_ENST00000442278.2_Missense_Mutation_p.R30Q|C2_ENST00000299367.5_Missense_Mutation_p.R162Q|CFB_ENST00000456570.1_Missense_Mutation_p.R100Q			P00751	CFAB_HUMAN	complement factor B	176	Sushi 1.				complement activation, alternative pathway|proteolysis	extracellular region|plasma membrane	complement binding|serine-type endopeptidase activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(10)|pancreas(1)|skin(1)|urinary_tract(1)	21						GGCGCAGTGCGGACAGGCTTC	0.632													A	31901429	G	A	31901429	3	1	690	1	0	0	0	0	1	0	0	0	3308	1116	39	1		1	CFB	6	31901429	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	2536168	31901429	139213638	15	53683											
TBCC	6903	broad.mit.edu	37	chr6	42713776	42713776	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggactccatgtctccggtCctgacagcagcagcggagca	8	7	13	13	2	1	1	0	1	1	0	4	3	3	3	3	3	4	3	3	3	0	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:42713776C>A	ENST00000244625.2	-	2	599	c.36G>T	c.(34-36)agG>agT	p.R12S	TBCC_ENST00000372876.1_Missense_Mutation_p.R12S			Q15814	TBCC_HUMAN	tubulin folding cofactor C	12					'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|photoreceptor connecting cilium	chaperone binding|GTPase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|urinary_tract(3)	14	Colorectal(47;0.196)		all cancers(41;0.00122)|Colorectal(64;0.00237)|COAD - Colon adenocarcinoma(64;0.00473)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.125)			TGTCTCCGGTCCTGACAGCAG	0.597													A	42713776	C	A	42713776	3	1	690	1	0	0	0	0	1	0	0	0	15731	854	30	4	1008	4	TBCC	6	42713776	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	10812347	42713776	128401291	16	53684											
ZBTB2	57621	broad.mit.edu	37	chr6	151686867	151686867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agttgcatttgtagggtttgTttgtttgcaccagcatgttg	6	18	12	5	0	0	0	0	0	0	0	0	0	0	0	1	1	3	9	1	1	1	7			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151686867T>C	ENST00000325144.4	-	3	1474	c.1334A>G	c.(1333-1335)aAc>aGc	p.N445S		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	445					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		GTAGGGTTTGTTTGTTTGCAC	0.443													C	151686867	T	C	151686867	3	2	690	1	0	0	0	0	1	0	0	0	17629	1725	60	3	214	3	ZBTB2	6	151686867	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	108973091	151686867	19428200	17	53685											
ZBTB2	57621	broad.mit.edu	37	chr6	151687324	151687324	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcattgctacagagagtcaGggggacgcgactttctccct	8	10	12	11	2	2	1	1	0	1	1	3	4	2	2	1	2	3	2	1	2	1	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr6:151687324G>A	ENST00000325144.4	-	3	1017	c.877C>T	c.(877-879)Ctg>Ttg	p.L293L		NM_020861.1	NP_065912.1	Q8N680	ZBTB2_HUMAN	zinc finger and BTB domain containing 2	293					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(2)|lung(6)|skin(1)	12			BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.63e-11)		CAGAGAGTCAGGGGGACGCGA	0.547													A	151687324	G	A	151687324	2	1	690	1	0	0	0	0	0	0	0	1	17629	991	35	2		2	ZBTB2	6	151687324	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	457	151687324	19427743	18	53686											
HIP1	3092	broad.mit.edu	37	chr7	75172231	75172231	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaacgccggcagtggcctgGttcactccccgagaggcctg	7	6	13	15	3	1	1	1	0	0	1	2	2	2	1	5	4	1	2	5	4	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr7:75172231G>T	ENST00000336926.6	-	28	2855	c.2829C>A	c.(2827-2829)aaC>aaA	p.N943K	HIP1_ENST00000434438.2_Missense_Mutation_p.N892K	NM_005338.5	NP_005329.3	O00291	HIP1_HUMAN	huntingtin interacting protein 1	943	I/LWEQ.				activation of caspase activity|cell differentiation|clathrin coat assembly|endocytosis|induction of apoptosis|positive regulation of receptor-mediated endocytosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	clathrin coated vesicle membrane|cytoskeleton|Golgi apparatus|membrane fraction|nucleus	actin binding|clathrin binding|phosphatidylinositol binding|structural constituent of cytoskeleton			breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(25)|ovary(2)|pancreas(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CAGTGGCCTGGTTCACTCCCC	0.542			T	PDGFRB	CMML								T	75172231	G	T	75172231	3	4	690	1	0	0	0	0	1	0	0	0	7169	1252	44	4	300	4	HIP1	7	75172231	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		75172231	83966432	19	53687											
DAPK1	1612	broad.mit.edu	37	chr9	90252944	90252944	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaatttctcaaacaaattcTtaatggtgtttactacctgc	12	16	5	8	0	2	1	1	1	2	0	3	1	2	1	1	1	4	1	1	1	6	6			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr9:90252944T>A	ENST00000469640.2	+	4	746	c.371T>A	c.(370-372)cTt>cAt	p.L124H	DAPK1_ENST00000491893.1_Missense_Mutation_p.L124H|DAPK1_ENST00000408954.3_Missense_Mutation_p.L124H|DAPK1_ENST00000358077.5_Missense_Mutation_p.L124H|DAPK1_ENST00000472284.1_Missense_Mutation_p.L124H			P53355	DAPK1_HUMAN	death-associated protein kinase 1	124	Protein kinase.				apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AAACAAATTCTTAATGGTGTT	0.433									Chronic Lymphocytic Leukemia, Familial Clustering of				A	90252944	T	A	90252944	3	1	690	1	0	0	0	0	1	0	0	0	4269	1609	56	5	381	5	DAPK1	9	90252944	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		90252944	50960487	20	53688											
CTNNA3	29119	broad.mit.edu	37	chr10	68535239	68535239	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtcttcttacacatgttgTctaaagcaatattcagggta	11	16	7	7	0	4	0	1	0	3	0	4	0	4	0	0	1	2	3	0	1	6	8			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:68535239T>C	ENST00000433211.2	-	8	1265	c.1091A>G	c.(1090-1092)gAc>gGc	p.D364G	CTNNA3_ENST00000373744.4_Missense_Mutation_p.D364G	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN	catenin (cadherin-associated protein), alpha 3						cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACACATGTTGTCTAAAGCAAT	0.378													C	68535239	T	C	68535239	3	2	690	1	0	0	0	0	1	0	0	0	4047	1667	58	3	1640	3	CTNNA3	10	68535239	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		68535239	66999508	21	53689											
PDCD11	22984	broad.mit.edu	37	chr10	105202012	105202012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggagttggagaagcagaagGcagagaaggaactgtcccgc	13	4	17	7	1	0	3	0	0	0	3	1	7	1	5	1	4	2	3	1	4	4	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr10:105202012G>A	ENST00000369797.3	+	32	4844	c.4750G>A	c.(4750-4752)Gca>Aca	p.A1584T		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1584					mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GAAGCAGAAGGCAGAGAAGGA	0.547													A	105202012	G	A	105202012	3	1	690	1	0	0	0	0	1	0	0	0	11693	1203	42	2	4872	2	PDCD11	10	105202012	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	36666773	105202012	30332735	22	53690											
ACCS	84680	broad.mit.edu	37	chr11	44098861	44098861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccccaccccttactatggcGctatcacacagcacgtgtgt	8	10	7	16	2	1	0	1	0	0	0	2	0	2	0	4	1	2	2	4	1	3	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:44098861G>A	ENST00000263776.8	+	7	1023	c.589G>A	c.(589-591)Gct>Act	p.A197T	ACCS_ENST00000432284.2_3'UTR|ACCS_ENST00000533208.1_Intron	NM_001127219.1|NM_032592.3	NP_001120691.1|NP_115981.1	Q96QU6	1A1L1_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)	197							1-aminocyclopropane-1-carboxylate synthase activity|protein homodimerization activity|pyridoxal phosphate binding|transferase activity, transferring nitrogenous groups	p.A197T(1)		breast(4)|endometrium(3)|large_intestine(11)|lung(15)|ovary(1)|skin(1)	35						TTACTATGGCGCTATCACACA	0.582													A	44098861	G	A	44098861	3	1	690	1	0	0	0	0	1	0	0	0	133	1087	38	1	611	1	ACCS	11	44098861	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		44098861	90907655	23	53691											
PIH1D2	120379	broad.mit.edu	37	chr11	111934916	111934916	+	Frame_Shift_Del	DEL	T	T	-																															aacttcaaagataattcatcTttcgctaatgcttgtggttc																										TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr11:111934916delT	ENST00000431456.1	-	6	1065	c.843delA	c.(841-843)aaafs	p.K281fs	DLAT_ENST00000280346.6_3'UTR|DLAT_ENST00000393051.1_3'UTR|PIH1D2_ENST00000528775.1_Frame_Shift_Del_p.K281fs	NM_001082619.1	NP_001076088.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	0										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		ATAATTCATCTTTCGCTAATG	0.313													-	111934916	T	-	111934916	7	5	690	1	0	1	0	1	0	0	0	0	11984	1606	56	0	27	0	PIH1D2	11	111934916	Frame_Shift_Del	DEL	T	TCGA-RY-A845-01A-11D-A36O-08	67836055	111934916	23071600	24	53692											
IAPP	3375	broad.mit.edu	37	chr12	21531254	21531254	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttagttcattccagcaacaActttggtgccattctctcat	9	16	5	11	0	3	0	2	0	1	0	5	0	4	0	2	1	4	2	2	1	3	6			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr12:21531254A>G	ENST00000240652.3	+	3	300	c.164A>G	c.(163-165)aAc>aGc	p.N55S	IAPP_ENST00000539393.1_Missense_Mutation_p.N55S|SLCO1A2_ENST00000307378.6_Intron|IAPP_ENST00000542023.1_3'UTR|SLCO1A2_ENST00000537524.1_Intron|SLCO1A2_ENST00000473830.1_Intron	NM_000415.2	NP_000406.1	P10997	IAPP_HUMAN	islet amyloid polypeptide	55					apoptosis|cell-cell signaling|endocrine pancreas development|signal transduction	extracellular region|soluble fraction	hormone activity			lung(3)	3					Perindopril(DB00790)	TCCAGCAACAACTTTGGTGCC	0.453													G	21531254	A	G	21531254	3	3	690	1	0	0	0	0	1	0	0	0	7530	43	2	3	170	3	IAPP	12	21531254	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08		21531254	112320641	25	53693											
CTSG	1511	broad.mit.edu	37	chr14	25043625	25043625	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagccggccacagtgcacagCgtcccgggtctcagtccctc	6	6	11	18	3	1	0	1	0	1	0	5	0	3	0	4	2	3	1	4	2	0	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr14:25043625C>T	ENST00000216336.2	-	4	456	c.420G>A	c.(418-420)acG>acA	p.T140T		NM_001911.2	NP_001902.1	P08311	CATG_HUMAN	cathepsin G	140	Peptidase S1.				immune response|proteolysis	cell surface|extracellular space|plasma membrane|stored secretory granule	heparin binding|serine-type endopeptidase activity	p.T140T(1)		autonomic_ganglia(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(265;0.0269)		CAGTGCACAGCGTCCCGGGTC	0.612													T	25043625	C	T	25043625	2	4	690	1	0	0	0	0	0	0	0	1	4068	755	27	1		1	CTSG	14	25043625	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		25043625	82305915	26	53694											
SCNN1G	6340	broad.mit.edu	37	chr16	23197720	23197720	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacacccatggctgtcgccGcatcgtggtgtcccgcggcc	5	7	12	17	5	0	0	0	0	0	0	3	0	1	0	4	3	1	2	4	3	1	0			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:23197720G>A	ENST00000300061.2	+	2	271	c.128G>A	c.(127-129)cGc>cAc	p.R43H		NM_001039.3	NP_001030.2	P51170	SCNNG_HUMAN	sodium channel, non-voltage-gated 1, gamma subunit	43					excretion|sensory perception of taste	apical plasma membrane|integral to plasma membrane	ligand-gated sodium channel activity|WW domain binding			NS(2)|autonomic_ganglia(1)|breast(1)|cervix(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	34				GBM - Glioblastoma multiforme(48;0.0366)	Amiloride(DB00594)|Triamterene(DB00384)	GGCTGTCGCCGCATCGTGGTG	0.627													A	23197720	G	A	23197720	3	1	690	1	0	0	0	0	1	0	0	0	14023	1087	38	1	130	1	SCNN1G	16	23197720	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		23197720	67157033	27	53695											
HSD17B2	3294	broad.mit.edu	37	chr16	82104725	82104725	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggctggtgaatgtcagcagCatgggaggtgagtcagcatt	10	9	16	6	0	2	2	2	2	0	0	2	3	2	3	0	4	3	4	0	4	1	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr16:82104725C>T	ENST00000199936.4	+	3	850	c.657C>T	c.(655-657)agC>agT	p.S219S	RP11-510J16.5_ENST00000567021.1_RNA	NM_002153.2	NP_002144.1	P37059	DHB2_HUMAN	hydroxysteroid (17-beta) dehydrogenase 2	219					response to retinoic acid|steroid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	17-alpha,20-alpha-dihydroxypregn-4-en-3-one dehydrogenase activity|binding|estradiol 17-beta-dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)	10					NADH(DB00157)	ATGTCAGCAGCATGGGAGGTG	0.488													T	82104725	C	T	82104725	2	4	690	1	0	0	0	0	0	0	0	1	7439	709	25	2		2	HSD17B2	16	82104725	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	58907005	82104725	8250028	28	53696											
NEURL4	84461	broad.mit.edu	37	chr17	7226076	7226076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagtgcagtgggaaggaCttctcggtggcagtgttgct	6	10	19	6	1	1	0	0	0	1	0	2	3	1	3	0	6	2	4	0	6	1	2	rs35849202		TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7226076C>T	ENST00000399464.2	-	16	2718	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	NEURL4_ENST00000315614.7_Silent_p.K899K|NEURL4_ENST00000570460.1_Silent_p.K877K	NM_032442.2	NP_115818.2			neuralized E3 ubiquitin protein ligase 4											central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGGGAAGGACTTCTCGGTGG	0.622													T	7226076	C	T	7226076	2	4	690	1	0	0	0	0	0	0	0	1	10423	564	20	2		2	NEURL4	17	7226076	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08		7226076	73969134	29	53697											
TP53	7157	broad.mit.edu	37	chr17	7578496	7578496	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgtggaatcaacccacAgctgcacagggcaggtcttg	9	7	15	10	0	2	0	1	0	1	0	2	1	2	1	1	5	3	3	1	5	2	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:7578496A>G	ENST00000420246.2	-	5	566	c.434T>C	c.(433-435)cTg>cCg	p.L145P	TP53_ENST00000269305.4_Missense_Mutation_p.L145P|TP53_ENST00000359597.4_Missense_Mutation_p.L145P|TP53_ENST00000413465.2_Missense_Mutation_p.L145P|TP53_ENST00000455263.2_Missense_Mutation_p.L145P|TP53_ENST00000445888.2_Missense_Mutation_p.L145P	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	145	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		L -> M (in sporadic cancers; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> Q (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L145Q(17)|p.L145P(17)|p.0?(8)|p.L145R(7)|p.Q144_G154del11(1)|p.L137_W146del10(1)|p.Q144fs*32(1)|p.Q144fs*16(1)|p.W146fs*25(1)|p.W146fs*22(1)|p.L145del(1)|p.V143_S149del(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)		ATCAACCCACAGCTGCACAGG	0.602		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)			G	7578496	A	G	7578496	3	3	690	1	0	0	0	0	1	0	0	0	16482	188	7	3	864	3	TP53	17	7578496	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08	352420	7578496	73616714	30	53698											
FLCN	201163	broad.mit.edu	37	chr17	17119748	17119748	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggctgagccccaggaagtTgcaccgataggcctcctcgt	7	7	13	14	3	0	1	0	1	0	0	2	3	1	2	5	3	2	3	5	3	2	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr17:17119748T>C	ENST00000285071.4	-	11	1700	c.1246A>G	c.(1246-1248)Aac>Gac	p.N416D	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	416					regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						CCCAGGAAGTTGCACCGATAG	0.662									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome				C	17119748	T	C	17119748	3	2	690	1	0	0	0	0	1	0	0	0	5970	1812	63	3	509	3	FLCN	17	17119748	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08	9541252	17119748	64075462	31	53699											
CDH19	28513	broad.mit.edu	37	chr18	64197119	64197119	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcacaaacataagtctcaTagtattgagagaactcagga	16	11	7	7	0	3	2	3	1	1	1	4	4	3	3	0	1	2	1	0	1	5	5			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr18:64197119T>C	ENST00000262150.2	-	9	1713	c.1421A>G	c.(1420-1422)tAt>tGt	p.Y474C	CDH19_ENST00000540086.1_Missense_Mutation_p.Y474C	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	474	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATAAGTCTCATAGTATTGAGA	0.323													C	64197119	T	C	64197119	3	2	690	1	0	0	0	0	1	0	0	0	3134	1406	49	3	913	3	CDH19	18	64197119	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		64197119	13880129	32	53700											
MUC16	94025	broad.mit.edu	37	chr19	9049830	9049830	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatggtctctgcaggatggaTaacccatgaagctgttgtat	10	12	12	7	0	1	1	0	1	1	0	2	4	1	3	1	3	3	4	1	3	3	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:9049830T>A	ENST00000397910.4	-	5	32004	c.31801A>T	c.(31801-31803)Atc>Ttc	p.I10601F		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10603	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						GCAGGATGGATAACCCATGAA	0.483													A	9049830	T	A	9049830	3	1	690	1	0	0	0	0	1	0	0	0	10049	1406	49	5	12042	5	MUC16	19	9049830	Missense_Mutation	SNP	T	TCGA-RY-A845-01A-11D-A36O-08		9049830	50079153	33	53701											
ZNF433	163059	broad.mit.edu	37	chr19	12126626	12126626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attcccaagtggttttgaaaGctggtaagataagataatac	15	12	9	5	0	0	3	0	1	0	2	1	3	1	3	1	2	2	3	1	2	6	7			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:12126626G>A	ENST00000419886.2	-	5	1242	c.951C>T	c.(949-951)agC>agT	p.S317S	ZNF433_ENST00000344980.6_Silent_p.S352S|CTD-2006C1.2_ENST00000476474.1_RNA|CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA			Q8N7K0	ZN433_HUMAN	zinc finger protein 433	352					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						GGTTTTGAAAGCTGGTAAGAT	0.383													A	12126626	G	A	12126626	2	1	690	1	0	0	0	0	0	0	0	1	18008	962	34	2		2	ZNF433	19	12126626	Silent	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	3076796	12126626	47002357	34	53702											
SIGLEC5	8778	broad.mit.edu	37	chr19	52130494	52130494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accactcctgtcccgaggttCgatctccctgcagaaaagag	10	8	9	14	2	1	2	0	0	1	2	5	4	3	2	4	1	1	2	4	1	2	1			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chr19:52130494C>T	ENST00000222107.4	-	7	1428	c.1290G>A	c.(1288-1290)tcG>tcA	p.S430S	SIGLEC5_ENST00000570106.2_Silent_p.S430S|SIGLEC5_ENST00000534261.2_Silent_p.S430S|SIGLEC5_ENST00000429354.3_Silent_p.S430S|SIGLEC5_ENST00000599649.1_Silent_p.S430S			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	430					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		TCCCGAGGTTCGATCTCCCTG	0.557													T	52130494	C	T	52130494	2	4	690	1	0	0	0	0	0	0	0	1	14405	871	31	1		1	SIGLEC5	19	52130494	Silent	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	40003868	52130494	6998489	35	53703											
PIGA	5277	broad.mit.edu	37	chrX	15342872	15342872	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctggagctggcaatgtccctGacttcagttggaaaatagcc	10	10	11	10	0	1	1	1	1	0	0	2	3	2	3	2	3	2	3	2	3	4	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:15342872G>C	ENST00000333590.4	-	5	1187	c.1103C>G	c.(1102-1104)tCa>tGa	p.S368*	PIGA_ENST00000428964.1_Nonsense_Mutation_p.S53*|PIGA_ENST00000542278.1_Nonsense_Mutation_p.S134*|PIGA_ENST00000482148.1_5'UTR	NM_002641.3	NP_002632.1	P37287	PIGA_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class A	368					C-terminal protein lipidation|positive regulation of metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity|protein binding			endometrium(2)|kidney(2)|large_intestine(2)|ovary(1)|prostate(2)|urinary_tract(1)	10	Hepatocellular(33;0.183)					CAATGTCCCTGACTTCAGTTG	0.398													C	15342872	G	C	15342872	4	2	690	1	0	0	0	0	0	1	0	0	11961	1294	45	4	359	4	PIGA	23	15342872	Nonsense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08		15342872	139927688	36	53704											
FAM47C	442444	broad.mit.edu	37	chrX	37029164	37029164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	taagaaggcaaacgagtgttCctcagggctgaagtacagca	14	7	12	8	1	1	2	1	1	0	1	2	3	2	2	1	2	3	5	1	2	5	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:37029164C>T	ENST00000358047.3	+	1	2733	c.2681C>T	c.(2680-2682)tCc>tTc	p.S894F		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	894										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						AACGAGTGTTCCTCAGGGCTG	0.438													T	37029164	C	T	37029164	3	4	690	1	0	0	0	0	1	0	0	0	5622	855	30	2	2683	2	FAM47C	23	37029164	Missense_Mutation	SNP	C	TCGA-RY-A845-01A-11D-A36O-08	21686292	37029164	118241396	37	53705											
GPR173	54328	broad.mit.edu	37	chrX	53105924	53105924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgagcctggcgggtaacGccatcttgtccctgctggtg	4	10	15	12	3	1	1	0	1	1	0	2	1	2	1	3	3	3	2	3	3	1	2			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:53105924G>A	ENST00000332582.4	+	2	612	c.121G>A	c.(121-123)Gcc>Acc	p.A41T		NM_018969.5	NP_061842.1	Q9NS66	GP173_HUMAN	G protein-coupled receptor 173	41						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(1)|skin(1)	16						GGCGGGTAACGCCATCTTGTC	0.612													A	53105924	G	A	53105924	3	1	690	1	0	0	0	0	1	0	0	0	6725	1087	38	1	123	1	GPR173	23	53105924	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	16076760	53105924	102164636	38	53706											
GDPD2	54857	broad.mit.edu	37	chrX	69645908	69645908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctcttcctctaggtcctgGccctgctcctgcggctttgt	1	15	9	16	1	2	0	0	0	2	0	6	0	5	0	4	3	2	2	4	3	1	3			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:69645908G>A	ENST00000453994.2	+	5	671	c.310G>A	c.(310-312)Gcc>Acc	p.A104T	GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.A25T|GDPD2_ENST00000536730.1_Missense_Mutation_p.A25T|GDPD2_ENST00000374382.3_Missense_Mutation_p.A104T	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	104					glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					CTAGGTCCTGGCCCTGCTCCT	0.607													A	69645908	G	A	69645908	3	1	690	1	0	0	0	0	1	0	0	0	6380	1203	42	2	324	2	GDPD2	23	69645908	Missense_Mutation	SNP	G	TCGA-RY-A845-01A-11D-A36O-08	16539984	69645908	85624652	39	53707											
PASD1	139135	broad.mit.edu	37	chrX	150842518	150842518	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcccataacttcagactcaAccataagcaccctggagacc	13	8	5	15	0	2	2	2	0	0	2	3	3	3	2	4	1	3	1	4	1	3	4			TCGA-RY-A845-01A-11D-A36O-08	TCGA-RY-A845-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	53c8982e-804e-4764-a72a-d8707bc9ce56	51047352-2d68-4cf2-8c7d-8840010175ca	g.chrX:150842518A>G	ENST00000370357.4	+	15	2280	c.2035A>G	c.(2035-2037)Acc>Gcc	p.T679A		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	679						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCAGACTCAACCATAAGCAC	0.498													G	150842518	A	G	150842518	3	3	690	1	0	0	0	0	1	0	0	0	11547	43	2	3	2089	3	PASD1	23	150842518	Missense_Mutation	SNP	A	TCGA-RY-A845-01A-11D-A36O-08	81196610	150842518	4428042	40	53708											
FUBP1	8880	broad.mit.edu	37	chr1	78429977	78429978	+	Frame_Shift_Ins	INS	-	-	T																															aacaccagcatcattttgtaINStttttttgatcatctctcca																										TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:78429977_78429978insT	ENST00000370767.1	-	11	988_989	c.901_902insA	c.(901-903)atafs	p.I301fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.I301fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I322fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	301	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding	p.I301fs*22(1)		central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						ATCATTTTGTATTTTTTTGATC	0.347			"F, N"		oligodendroglioma								T	78429978	-	T	78429977	7	5	691	1	0	1	1	0	0	0	0	0	6144	449	16	0	1072	0	FUBP1	1	78429977	Frame_Shift_Ins	INS	-	TCGA-RY-A847-01A-11D-A36O-08		78429977	170820644	1	53709											
OR2T12	127064	broad.mit.edu	37	chr1	248458774	248458774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgagggcattgctaaacaggGaggtcaaaacggtggccaga	13	6	15	7	1	1	2	1	1	0	1	1	3	1	3	1	5	3	2	1	5	4	2			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr1:248458774G>A	ENST00000317996.1	-	1	106	c.107C>T	c.(106-108)tCc>tTc	p.S36F		NM_001004692.1	NP_001004692.1	Q8NG77	O2T12_HUMAN	olfactory receptor, family 2, subfamily T, member 12	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(3)|large_intestine(3)|lung(25)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0201)			GCTAAACAGGGAGGTCAAAAC	0.502													A	248458774	G	A	248458774	3	1	691	1	0	0	0	0	1	0	0	0	11095	1174	41	2	858	2	OR2T12	1	248458774	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	170028797	248458774	791847	2	53710											
GPAT2	150763	broad.mit.edu	37	chr2	96690336	96690336	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagtgagtgctgcagcaggCtccgcagctgcccagagaag	9	6	14	12	1	1	2	1	1	0	1	2	3	2	2	2	1	5	6	2	1	1	0			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:96690336C>T	ENST00000434632.1	-	16	1967	c.1508G>A	c.(1507-1509)aGc>aAc	p.S503N	GPAT2_ENST00000359548.4_Missense_Mutation_p.S503N|GPAT2_ENST00000453542.1_Missense_Mutation_p.S432N|GPAT2_ENST00000377137.3_Missense_Mutation_p.S503N			Q6NUI2	GPAT2_HUMAN	glycerol-3-phosphate acyltransferase 2, mitochondrial	503					glycerol-3-phosphate metabolic process|phospholipid biosynthetic process|triglyceride biosynthetic process	integral to membrane|mitochondrial outer membrane	glycerol-3-phosphate O-acyltransferase activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(1)|lung(5)|skin(3)	16						CTGCAGCAGGCTCCGCAGCTG	0.657													T	96690336	C	T	96690336	3	4	691	1	0	0	0	0	1	0	0	0	6643	797	28	2	911	2	GPAT2	2	96690336	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		96690336	146509037	3	53711											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135926349	135926349	+	Nonstop_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagatacttccttcttcTgattcttctagcattactcg	8	17	4	12	1	5	2	1	1	4	1	7	2	6	2	1	0	3	1	1	0	3	8			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:135926349T>G	ENST00000264158.8	+	24	2987	c.2944T>G	c.(2944-2946)Tga>Gga	p.*982G	RAB3GAP1_ENST00000487003.1_Intron|RAB3GAP1_ENST00000442034.1_Nonstop_Mutation_p.*989G|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000539493.1_Intron	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	0						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTCCTTCTTCTGATTCTTCTA	0.527													G	135926349	T	G	135926349	4	3	691	1	0	0	0	0	0	0	0	0	13023	1593	55	5	3063	5	RAB3GAP1	2	135926349	Nonstop_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	39236013	135926349	107273024	4	53712											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	691	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08	73186763	209113112	34086261	5	53713											
PTPRN	5798	broad.mit.edu	37	chr2	220168541	220168541	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catactgggtgaggtcatcgTgccaggacaatcctgtcagg	9	9	13	10	1	2	1	2	1	0	0	4	2	3	2	2	4	2	0	2	4	2	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr2:220168541T>C	ENST00000295718.2	-	4	533	c.293A>G	c.(292-294)cAc>cGc	p.H98R	PTPRN_ENST00000423636.2_Missense_Mutation_p.H8R|PTPRN_ENST00000409251.3_Missense_Mutation_p.H98R|AC114803.3_ENST00000417355.1_RNA	NM_002846.3	NP_002837.1	Q16849	PTPRN_HUMAN	protein tyrosine phosphatase, receptor type, N	98					response to reactive oxygen species	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(3)|prostate(4)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Renal(207;0.0474)		Epithelial(149;4.22e-07)|all cancers(144;8.82e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)|STAD - Stomach adenocarcinoma(1183;0.0875)		GAGGTCATCGTGCCAGGACAA	0.587													C	220168541	T	C	220168541	3	2	691	1	0	0	0	0	1	0	0	0	12895	1696	59	3	2726	3	PTPRN	2	220168541	Missense_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	11055429	220168541	23030832	6	53714											
ZBTB20	26137	broad.mit.edu	37	chr3	114058171	114058171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcttgttgcagatactaCactggtatgccctcactcct	8	12	8	13	1	1	1	1	0	0	1	2	1	2	1	2	1	5	4	2	1	3	5			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:114058171C>T	ENST00000462705.1	-	12	2509	c.1688G>A	c.(1687-1689)tGt>tAt	p.C563Y	ZBTB20_ENST00000481632.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000393785.2_Missense_Mutation_p.C563Y|ZBTB20_ENST00000471418.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000474710.1_Missense_Mutation_p.C636Y|ZBTB20_ENST00000464560.1_Missense_Mutation_p.C563Y|ZBTB20_ENST00000357258.3_Missense_Mutation_p.C563Y	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	636					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GCAGATACTACACTGGTATGC	0.527													T	114058171	C	T	114058171	3	4	691	1	0	0	0	0	1	0	0	0	17630	478	17	2	322	2	ZBTB20	3	114058171	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		114058171	83964259	7	53715											
ZNF148	7707	broad.mit.edu	37	chr3	124952039	124952039	+	Frame_Shift_Del	DEL	C	C	-																															tatggatgccgtggtactttCatcaatgacacttgccacag																										TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr3:124952039delC	ENST00000360647.4	-	9	2016	c.1531delG	c.(1531-1533)gaafs	p.E511fs	ZNF148_ENST00000484491.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000492394.1_Frame_Shift_Del_p.E511fs|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000485866.1_Frame_Shift_Del_p.E511fs	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	511					cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						GTGGTACTTTCATCAATGACA	0.438													-	124952039	C	-	124952039	7	5	691	1	0	1	0	1	0	0	0	0	17835	835	29	0	857	0	ZNF148	3	124952039	Frame_Shift_Del	DEL	C	TCGA-RY-A847-01A-11D-A36O-08	10893868	124952039	73070391	8	53716											
FRG1	2483	broad.mit.edu	37	chr4	190878555	190878556	+	Frame_Shift_Ins	INS	-	-	A																															ttatttgtttcacttaggggINSaaaatggctttgttggcctc																										TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr4:190878555_190878556insA	ENST00000226798.4	+	6	657_658	c.435_436insA	c.(436-438)aaafs	p.K146fs	FRG1_ENST00000514482.1_3'UTR	NM_004477.2	NP_004468.1	Q14331	FRG1_HUMAN	FSHD region gene 1	146					rRNA processing	Cajal body|catalytic step 2 spliceosome|nuclear speck|nucleolus				NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|lung(11)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|urinary_tract(1)	32		all_cancers(14;1.44e-58)|all_epithelial(14;6.32e-41)|all_lung(41;8.13e-17)|Lung NSC(41;2.13e-16)|Breast(6;2.54e-06)|Melanoma(20;0.000263)|Hepatocellular(41;0.00213)|Renal(120;0.0183)|all_hematologic(60;0.0358)|Prostate(90;0.0421)|all_neural(102;0.147)		all cancers(3;1.73e-30)|Epithelial(3;5.85e-30)|OV - Ovarian serous cystadenocarcinoma(60;5.56e-15)|BRCA - Breast invasive adenocarcinoma(30;9.14e-06)|Lung(3;3.54e-05)|STAD - Stomach adenocarcinoma(60;8.83e-05)|LUSC - Lung squamous cell carcinoma(40;0.000198)|GBM - Glioblastoma multiforme(59;0.00892)|READ - Rectum adenocarcinoma(43;0.161)		TCACTTAGGGGAAAATGGCTTT	0.351													A	190878556	-	A	190878555	7	5	691	1	0	1	1	0	0	0	0	0	6098	1161	41	0	457	0	FRG1	4	190878555	Frame_Shift_Ins	INS	-	TCGA-RY-A847-01A-11D-A36O-08		190878555	275721	9	53717											
GPR98	84059	broad.mit.edu	37	chr5	90079059	90079059	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcccggaggtgttgattaCattttgcatggcagtacagt	9	13	12	7	1	0	1	0	1	0	0	1	2	1	2	1	3	3	4	1	3	2	5			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr5:90079059C>T	ENST00000405460.2	+	66	13446	c.13350C>T	c.(13348-13350)taC>taT	p.Y4450Y	GPR98_ENST00000425867.2_Silent_p.Y111Y	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	4450	Calx-beta 30.				cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		GTGTTGATTACATTTTGCATG	0.413													T	90079059	C	T	90079059	2	4	691	1	0	0	0	0	0	0	0	1	6776	489	17	2		2	GPR98	5	90079059	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		90079059	90836201	10	53718											
FKBPL	63943	broad.mit.edu	37	chr6	32097117	32097117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccctccatggccctacGcccatagttagctctgtcca	6	11	6	18	1	1	0	0	0	1	0	5	0	5	0	6	1	2	2	6	1	3	3			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr6:32097117G>A	ENST00000375156.3	-	2	711	c.441C>T	c.(439-441)ggC>ggT	p.G147G		NM_022110.3	NP_071393.2	Q9UIM3	FKBPL_HUMAN	FK506 binding protein like	147					response to radiation	membrane|nucleus	FK506 binding|peptidyl-prolyl cis-trans isomerase activity										ATGGCCCTACGCCCATAGTTA	0.577													A	32097117	G	A	32097117	2	1	691	1	0	0	0	0	0	0	0	1	5965	1074	38	1		1	FKBPL	6	32097117	Silent	SNP	G	TCGA-RY-A847-01A-11D-A36O-08		32097117	139017950	11	53719											
RELN	5649	broad.mit.edu	37	chr7	103202290	103202290	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagcatcacaaatccctcgtCctgagcacatccaagggcac	12	6	7	16	1	1	1	1	1	0	0	5	1	4	1	3	1	2	3	3	1	2	0			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:103202290C>T	ENST00000424685.2	-	35	5480	c.5321G>A	c.(5320-5322)gGa>gAa	p.G1774E	RELN_ENST00000343529.5_Missense_Mutation_p.G1774E|RELN_ENST00000428762.1_Missense_Mutation_p.G1774E			P78509	RELN_HUMAN	reelin	1774	EGF-like 4.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		AATCCCTCGTCCTGAGCACAT	0.468													T	103202290	C	T	103202290	3	4	691	1	0	0	0	0	1	0	0	0	13308	855	30	2	5185	2	RELN	7	103202290	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		103202290	55936373	12	53720											
DUS4L	11062	broad.mit.edu	37	chr7	107214150	107214150	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctattcattttgtcaggTgattgcccattgattgttca	8	17	9	7	0	3	2	3	2	0	0	3	3	3	2	1	1	2	2	1	1	1	8			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr7:107214150T>C	ENST00000265720.3	+	5	602	c.240T>C	c.(238-240)ggT>ggC	p.G80G	DUS4L_ENST00000402620.1_Intron	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	80					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TTTTGTCAGGTGATTGCCCAT	0.368													C	107214150	T	C	107214150	5	2	691	1	0	0	0	0	0	0	1	0	4847	1710	59	3	250	3	DUS4L	7	107214150	Splice_Site	SNP	T	TCGA-RY-A847-01A-11D-A36O-08	4011860	107214150	51924513	13	53721											
OR4A47	403253	broad.mit.edu	37	chr11	48510452	48510452	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcttctacattttgacCatggtgggcaacctgctcat	7	15	8	11	0	3	1	1	1	2	0	3	1	3	1	2	2	4	3	2	2	2	5			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr11:48510452C>A	ENST00000446524.1	+	1	184	c.108C>A	c.(106-108)acC>acA	p.T36T		NM_001005512.2	NP_001005512.2	Q6IF82	O4A47_HUMAN	olfactory receptor, family 4, subfamily A, member 47	36					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(18)|ovary(1)|skin(1)|urinary_tract(2)	29						ACATTTTGACCATGGTGGGCA	0.423													A	48510452	C	A	48510452	2	1	691	1	0	0	0	0	0	0	0	1	11118	581	21	4		4	OR4A47	11	48510452	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48510452	86496064	14	53722											
HERC1	8925	broad.mit.edu	37	chr15	64045206	64045206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actggctcccagcacaaactTtgcgaatgaacattccttgt	11	11	7	12	1	0	1	0	1	0	0	2	2	2	1	2	1	4	2	2	1	3	3			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:64045206T>C	ENST00000443617.2	-	8	1940	c.1853A>G	c.(1852-1854)aAa>aGa	p.K618R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	618					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						AGCACAAACTTTGCGAATGAA	0.378													C	64045206	T	C	64045206	3	2	691	1	0	0	0	0	1	0	0	0	7112	1841	64	3	13016	3	HERC1	15	64045206	Missense_Mutation	SNP	T	TCGA-RY-A847-01A-11D-A36O-08		64045206	38486186	15	53723											
RASGRF1	5923	broad.mit.edu	37	chr15	79312394	79312394	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacactcaccttcctcctccGtgctttctggctcctccaat	5	13	4	19	1	2	0	1	0	1	0	7	0	7	0	6	1	1	2	6	1	1	2			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr15:79312394G>A	ENST00000419573.3	-	11	1869	c.1595C>T	c.(1594-1596)aCg>aTg	p.T532M	RASGRF1_ENST00000560334.1_5'UTR|RASGRF1_ENST00000558480.2_Missense_Mutation_p.T532M	NM_002891.4	NP_002882.3	Q13972	RGRF1_HUMAN	Ras protein-specific guanine nucleotide-releasing factor 1	532	PH 2.				activation of Rac GTPase activity|apoptosis|induction of apoptosis by extracellular signals|long-term memory|nerve growth factor receptor signaling pathway|neuron projection development|regulation of Rac protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol|growth cone|plasma membrane|synaptosome	Rho guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(2)|endometrium(7)|kidney(4)|large_intestine(18)|lung(23)|ovary(2)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TTCCTCCTCCGTGCTTTCTGG	0.498													A	79312394	G	A	79312394	3	1	691	1	0	0	0	0	1	0	0	0	13160	1145	40	1	2298	1	RASGRF1	15	79312394	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	15267188	79312394	23218998	16	53724											
ABCC11	85320	broad.mit.edu	37	chr16	48218516	48218516	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagcaggtagttattctgCgcatcagtcagcctcttaaa	12	11	8	10	1	4	0	2	0	2	0	4	0	4	0	1	1	4	4	1	1	5	4	rs141323816		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr16:48218516C>T	ENST00000394747.1	-	22	3442	c.3093G>A	c.(3091-3093)gcG>gcA	p.A1031A	ABCC11_ENST00000565329.1_5'UTR|ABCC11_ENST00000394748.1_Silent_p.A1031A|ABCC11_ENST00000353782.5_Silent_p.A1031A|ABCC11_ENST00000356608.2_Silent_p.A1031A	NM_033151.3	NP_149163.2	Q96J66	ABCCB_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 11	1031	ABC transmembrane type-1 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(3)|prostate(2)|skin(5)|urinary_tract(2)	83		all_cancers(37;0.127)|all_lung(18;0.132)|Breast(268;0.166)				AGTTATTCTGCGCATCAGTCA	0.512													T	48218516	C	T	48218516	2	4	691	1	0	0	0	0	0	0	0	1	51	755	27	1		1	ABCC11	16	48218516	Silent	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48218516	42136237	17	53725											
FUT5	2527	broad.mit.edu	37	chr19	5866758	5866758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtagctcaggtagcgggCgtggtccttgtccagctcct	7	10	13	11	2	1	0	1	0	0	0	4	0	4	0	3	3	3	4	3	3	3	3			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:5866758C>T	ENST00000252675.5	-	5	1541	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	FUT5_ENST00000588525.1_Missense_Mutation_p.A327T			Q11128	FUT5_HUMAN	fucosyltransferase 5 (alpha (1,3) fucosyltransferase)	327					L-fucose catabolic process|protein glycosylation	Golgi cisterna membrane|integral to membrane	3-galactosyl-N-acetylglucosaminide 4-alpha-L-fucosyltransferase activity|alpha(1,3)-fucosyltransferase activity			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						AGGTAGCGGGCGTGGTCCTTG	0.642													T	5866758	C	T	5866758	3	4	691	1	0	0	0	0	1	0	0	0	6159	768	27	1	149	1	FUT5	19	5866758	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		5866758	53262225	18	53726											
MUC16	94025	broad.mit.edu	37	chr19	9047027	9047027	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcaggtgagatagttgtcGttgaaacagctgaactggct	11	12	12	6	1	1	3	1	3	0	1	2	4	1	3	0	2	3	4	0	2	4	4	rs111231164		TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr19:9047027G>A	ENST00000397910.4	-	5	34807	c.34604C>T	c.(34603-34605)aCg>aTg	p.T11535M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11537	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.T7168M(1)|p.T11535M(1)		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						GATAGTTGTCGTTGAAACAGC	0.512													A	9047027	G	A	9047027	3	1	691	1	0	0	0	0	1	0	0	0	10049	1145	40	1	9239	1	MUC16	19	9047027	Missense_Mutation	SNP	G	TCGA-RY-A847-01A-11D-A36O-08	3180269	9047027	50081956	19	53727											
RNF114	55905	broad.mit.edu	37	chr20	48558201	48558201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccgagccgtggagctcgagCggcagatcgagagcacagag	10	4	16	11	5	0	3	0	0	0	3	3	7	1	4	2	2	4	3	2	2	0	0			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chr20:48558201C>T	ENST00000244061.2	+	2	246	c.244C>T	c.(244-246)Cgg>Tgg	p.R82W		NM_018683.3	NP_061153.1	Q9Y508	RN114_HUMAN	ring finger protein 114	82					cell differentiation|multicellular organismal development|spermatogenesis	intracellular	zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|ovary(1)	5						GGAGCTCGAGCGGCAGATCGA	0.557													T	48558201	C	T	48558201	3	4	691	1	0	0	0	0	1	0	0	0	13520	759	27	1	250	1	RNF114	20	48558201	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		48558201	14467319	20	53728											
TGIF2LY	90655	broad.mit.edu	37	chrY	3447662	3447662	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccatcattggccacaaaaCgggcaaagatgcccatgcca	13	5	8	15	1	1	1	1	0	0	1	1	1	1	1	5	2	3	1	5	2	3	1			TCGA-RY-A847-01A-11D-A36O-08	TCGA-RY-A847-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9917b575-97ed-48ed-bc5d-8ddf1246fa21	dacc4361-84fe-4fd7-8c3b-0709ce0b7400	g.chrY:3447662C>T	ENST00000559055.2	+	1	507	c.377C>T	c.(376-378)aCg>aTg	p.T126M	TGIF2LY_ENST00000321217.4_Missense_Mutation_p.T126M			Q8IUE0	TF2LY_HUMAN	TGFB-induced factor homeobox 2-like, Y-linked	126						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|upper_aerodigestive_tract(1)	2						GGCCACAAAACGGGCAAAGAT	0.547													T	3447662	C	T	3447662	3	4	691	1	0	0	0	0	1	0	0	0	15928	536	19	1	379	1	TGIF2LY	24	3447662	Missense_Mutation	SNP	C	TCGA-RY-A847-01A-11D-A36O-08		3447662	55925904	21	53729											
PGD	5226	broad.mit.edu	37	chr1	10479685	10479685	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacctactctctcgtttcctAggctcagcgggattacttcg	7	13	8	13	3	2	0	1	0	1	0	6	1	3	1	2	2	4	2	2	2	4	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:10479685A>G	ENST00000538557.1	+	13	1537		c.e13-1		PGD_ENST00000541529.1_Splice_Site|PGD_ENST00000498356.1_Splice_Site|PGD_ENST00000270776.8_Splice_Site			P52209	6PGD_HUMAN	phosphogluconate dehydrogenase						pentose-phosphate shunt, oxidative branch	cytosol	NADP binding|phosphogluconate dehydrogenase (decarboxylating) activity|protein binding			NS(1)|breast(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	14	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.19e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.14e-07)|COAD - Colon adenocarcinoma(227;7.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000294)|Kidney(185;0.000728)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(132;0.00832)|READ - Rectum adenocarcinoma(331;0.0487)		CTCGTTTCCTAGGCTCAGCGG	0.587													G	10479685	A	G	10479685	5	3	692	1	0	0	0	0	0	0	1	0	11864	434	15	3	1381	3	PGD	1	10479685	Splice_Site	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08		10479685	238770936	1	53730											
HSPG2	3339	broad.mit.edu	37	chr1	22168605	22168605	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcacggtgctgctgggcGggtcgatggagatgaccggg	5	7	20	9	4	0	2	0	1	0	1	1	4	0	2	1	5	3	4	1	5	0	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:22168605G>A	ENST00000374695.3	-	69	9162	c.9083C>T	c.(9082-9084)cCg>cTg	p.P3028L		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3028	Ig-like C2-type 16.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	GCTGCTGGGCGGGTCGATGGA	0.677													A	22168605	G	A	22168605	3	1	692	1	0	0	0	0	1	0	0	0	7488	1116	39	1	4208	1	HSPG2	1	22168605	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	11688920	22168605	227082016	2	53731											
KLF17	128209	broad.mit.edu	37	chr1	44595585	44595585	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggctcagatgttgcccccGcaagatgcccatgaccttgg	8	9	11	13	1	1	3	1	1	0	2	1	3	1	3	4	2	2	3	4	2	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:44595585G>A	ENST00000372299.3	+	2	700	c.642G>A	c.(640-642)ccG>ccA	p.P214P	KLF17_ENST00000476802.1_Intron	NM_173484.3	NP_775755.3	Q5JT82	KLF17_HUMAN	Kruppel-like factor 17	214					regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|large_intestine(1)|lung(6)|ovary(3)|prostate(1)|skin(2)|stomach(1)	18	Acute lymphoblastic leukemia(166;0.155)					TGTTGCCCCCGCAAGATGCCC	0.572													A	44595585	G	A	44595585	2	1	692	1	0	0	0	0	0	0	0	1	8403	1074	38	1		1	KLF17	1	44595585	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	22426980	44595585	204655036	3	53732											
MAGOH	4116	broad.mit.edu	37	chr1	53692717	53692717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgtccacaccaatattcagtCtagattggtttaatcttgaa	12	15	6	8	0	3	2	1	1	2	1	4	2	4	2	2	1	0	1	2	1	5	7	rs75427086	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:53692717C>T	ENST00000371470.3	-	5	602	c.441G>A	c.(439-441)taG>taA	p.*147*	MAGOH_ENST00000371466.4_Silent_p.*110*	NM_002370.3	NP_002361.1	P61326	MGN_HUMAN	mago-nashi homolog, proliferation-associated (Drosophila)	0					mRNA 3'-end processing|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translation|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytosol|exon-exon junction complex|nuclear speck	protein binding|RNA binding			haematopoietic_and_lymphoid_tissue(1)|lung(4)|urinary_tract(1)	6						AATATTCAGTCTAGATTGGTT	0.368													T	53692717	C	T	53692717	2	4	692	1	0	0	0	0	0	0	0	1	9269	924	32	2		2	MAGOH	1	53692717	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	9097132	53692717	195557904	4	53733											
IL12RB2	3595	broad.mit.edu	37	chr1	67793919	67793919	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatttaacctggcagaagcaAtgtaaagacatttattgtga	16	12	8	5	0	0	3	0	1	0	2	0	3	0	3	1	1	2	3	1	1	7	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:67793919A>G	ENST00000262345.1	+	5	1156	c.516A>G	c.(514-516)caA>caG	p.Q172Q	IL12RB2_ENST00000541374.1_Silent_p.Q172Q|IL12RB2_ENST00000544434.1_Silent_p.Q172Q|IL12RB2_ENST00000371000.1_Silent_p.Q172Q	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	172	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						GGCAGAAGCAATGTAAAGACA	0.388													G	67793919	A	G	67793919	2	3	692	1	0	0	0	0	0	0	0	1	7685	98	4	3		3	IL12RB2	1	67793919	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	14101202	67793919	181456702	5	53734											
OR10J3	441911	broad.mit.edu	37	chr1	159284144	159284144	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaaggtgagatagaagaaGagctgagtggcacagctttg	14	7	14	6	0	0	5	0	2	0	4	0	6	0	5	1	2	2	3	1	2	4	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:159284144G>T	ENST00000332217.5	-	1	305	c.306C>A	c.(304-306)ctC>ctA	p.L102L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	102					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					GATAGAAGAAGAGCTGAGTGG	0.502													T	159284144	G	T	159284144	2	4	692	1	0	0	0	0	0	0	0	1	10987	929	33	4		4	OR10J3	1	159284144	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	91490225	159284144	89966477	6	53735											
SRGAP2	23380	broad.mit.edu	37	chr1	206634405	206634405	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaggcaacaatgaactcGgccctgaatgagctacggga	13	7	12	9	2	0	4	0	4	0	0	1	5	0	5	1	3	4	2	1	3	5	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:206634405G>A	ENST00000414007.1	+	19	2436	c.2436G>A	c.(2434-2436)tcG>tcA	p.S812S				O75044	FNBP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	952					axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					CAATGAACTCGGCCCTGAATG	0.537													A	206634405	G	A	206634405	2	1	692	1	0	0	0	0	0	0	0	1	15242	1103	39	1		1	SRGAP2	1	206634405	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	47350261	206634405	42616216	7	53736											
USH2A	7399	broad.mit.edu	37	chr1	216262396	216262396	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttggccaaaagcctgaTgcctaatagcaattatttca	13	13	7	8	0	1	2	1	2	0	0	1	2	1	2	3	1	3	1	3	1	6	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:216262396T>A	ENST00000366943.2	-	23	5230	c.4844A>T	c.(4843-4845)cAt>cTt	p.H1615L	USH2A_ENST00000307340.3_Missense_Mutation_p.H1615L			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1615	Laminin G-like 1.				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)		AAAAGCCTGATGCCTAATAGC	0.368										HNSCC(13;0.011)			A	216262396	T	A	216262396	3	1	692	1	0	0	0	0	1	0	0	0	17138	1464	51	5	10964	5	USH2A	1	216262396	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	9627991	216262396	32988225	8	53737											
WDR64	128025	broad.mit.edu	37	chr1	241886728	241886728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tcaacatgtcgtcagcctttCctctgcaaaggtaacaaaaa	14	10	6	11	1	3	0	2	0	1	0	5	0	4	0	2	1	4	2	2	1	5	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr1:241886728C>T	ENST00000366552.2	+	9	1361	c.1154C>T	c.(1153-1155)tCc>tTc	p.S385F	WDR64_ENST00000437684.2_Missense_Mutation_p.S385F	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	385								p.S385Y(1)|p.S105Y(1)		breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GTCAGCCTTTCCTCTGCAAAG	0.383													T	241886728	C	T	241886728	3	4	692	1	0	0	0	0	1	0	0	0	17417	855	30	2	1188	2	WDR64	1	241886728	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	25624332	241886728	7363893	9	53738											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	22	4	11	4	0	0	2	0	0	0	2	0	6	0	5	1	4	2	0	1	4	9	3	rs111515821		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328													T	97869979	G	T	97869979	3	4	692	1	0	0	0	0	1	0	0	0	665	1174	41	4	3238	4	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		97869979	145329394	10	53739											
CNGA3	1261	broad.mit.edu	37	chr2	99013230	99013230	+	Missense_Mutation	SNP	G	G	T																															agctggccgtggtggctgatGatggggtcacccagttcgtg																										TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013230G>T	ENST00000393504.1	+	8	2014	c.1597G>T	c.(1597-1599)Gat>Tat	p.D533Y	CNGA3_ENST00000436404.2_Missense_Mutation_p.D515Y|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533Y|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537Y	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GGTGGCTGATGATGGGGTCAC	0.562													T	99013230	G	T	99013230	3	4	692	1	0	0	0	0	1	0	0	0	3629	1290	45	4	1623	4	CNGA3	2	99013230	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1143251	99013230	144186143	11	53740	171	2									
CNGA3	1261	broad.mit.edu	37	chr2	99013232	99013232	+	Missense_Mutation	SNP	T	T	A																															ctggccgtggtggctgatgaTggggtcacccagttcgtggt																										TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:99013232T>A	ENST00000393504.1	+	8	2016	c.1599T>A	c.(1597-1599)gaT>gaA	p.D533E	CNGA3_ENST00000436404.2_Missense_Mutation_p.D515E|CNGA3_ENST00000272602.2_Missense_Mutation_p.D533E|CNGA3_ENST00000409937.1_Missense_Mutation_p.D537E	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	533					signal transduction|visual perception	integral to membrane	cGMP binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						TGGCTGATGATGGGGTCACCC	0.562													A	99013232	T	A	99013232	3	1	692	1	0	0	0	0	1	0	0	0	3629	1461	51	5	1625	5	CNGA3	2	99013232	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2	99013232	144186141	12	53741	171	2									
TTN	7273	broad.mit.edu	37	chr2	179472196	179472196	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctgtaatcacatatctgCcatggtcttttcgcagtgca	9	14	8	10	1	3	0	1	0	2	0	4	0	3	0	1	1	3	4	1	1	3	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179472196C>T	ENST00000589042.1	-	277	53443	c.53219G>A	c.(53218-53220)gGc>gAc	p.G17740D	TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G15172D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G8867D|TTN_ENST00000591111.1_Missense_Mutation_p.G16099D|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G8800D|TTN_ENST00000460472.2_Missense_Mutation_p.G8675D|TTN-AS1_ENST00000589830.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16099							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACATATCTGCCATGGTCTTT	0.413													T	179472196	C	T	179472196	3	4	692	1	0	0	0	0	1	0	0	0	16837	739	26	2	54818	2	TTN	2	179472196	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	80458964	179472196	63727177	13	53742											
TTN	7273	broad.mit.edu	37	chr2	179616389	179616392	+	Frame_Shift_Del	DEL	ACCT	ACCT	-																															ttcactattaattgctagtaAcctataacttccagaatctc																										TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:179616389_179616392delACCT	ENST00000360870.5	-	46	10957_10960	c.10735_10738delAGGT	c.(10735-10740)aggttafs	p.RL3579fs	TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	3574	Ig-like 21.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTGCTAGTAACCTATAACTTCCA	0.377													-	179616392	ACCT	-	179616389	7	5	692	1	0	1	0	1	0	0	0	0	16837	40	2	0	99559	0	TTN	2	179616389	Frame_Shift_Del	DEL	ACCT	TCGA-S9-A6TS-01A-12D-A33T-08	144193	179616389	63582984	14	53743											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	692	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	29496723	209113112	34086261	15	53744											
INPP5D	3635	broad.mit.edu	37	chr2	234113018	234113018	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgatcgcggcgaggggccCggcaagcaggtgcccgcgcc	5	3	18	15	6	0	1	0	1	0	0	1	2	0	1	3	5	2	3	3	5	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr2:234113018C>T	ENST00000359570.5	+	28	3186	c.3186C>T	c.(3184-3186)ccC>ccT	p.P1062P	INPP5D_ENST00000455936.2_Silent_p.P826P|INPP5D_ENST00000450745.1_Silent_p.P826P			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding			central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		GCGAGGGGCCCGGCAAGCAGG	0.706													T	234113018	C	T	234113018	2	4	692	1	0	0	0	0	0	0	0	1	7814	639	23	1		1	INPP5D	2	234113018	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	24999906	234113018	9086355	16	53745											
LRRC3B	116135	broad.mit.edu	37	chr3	26751539	26751539	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttgtccgacaatcggattCaaagtgtgcacaaaaatgcc	14	9	8	10	2	1	0	1	0	0	0	3	2	2	1	2	1	2	1	2	1	4	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:26751539C>G	ENST00000396641.2	+	2	968	c.376C>G	c.(376-378)Caa>Gaa	p.Q126E	LRRC3B_ENST00000456208.2_Missense_Mutation_p.Q126E|LRRC3B_ENST00000417744.1_Missense_Mutation_p.Q126E	NM_052953.2	NP_443185.1	Q96PB8	LRC3B_HUMAN	leucine rich repeat containing 3B	126						integral to membrane				breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|pancreas(2)|prostate(1)|skin(4)	21						CAATCGGATTCAAAGTGTGCA	0.478													G	26751539	C	G	26751539	3	3	692	1	0	0	0	0	1	0	0	0	9066	827	29	4	378	4	LRRC3B	3	26751539	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		26751539	171270891	17	53746											
CDCP1	64866	broad.mit.edu	37	chr3	45132791	45132791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggcttggggagcacatcctCgtccaggctgaagatctcct	7	10	12	12	1	1	2	0	1	1	1	5	3	3	3	3	4	1	3	3	4	1	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:45132791C>T	ENST00000296129.1	-	7	2001	c.1867G>A	c.(1867-1869)Gag>Aag	p.E623K		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	623						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGCACATCCTCGTCCAGGCTG	0.592													T	45132791	C	T	45132791	3	4	692	1	0	0	0	0	1	0	0	0	3123	893	31	1	655	1	CDCP1	3	45132791	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	18381252	45132791	152889639	18	53747											
SMARCC1	6599	broad.mit.edu	37	chr3	47762184	47762184	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaaagccccaatgcactaAcacttgcttctcttttctca	11	13	4	13	0	2	0	1	0	2	0	4	0	2	0	2	0	4	3	2	0	4	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:47762184A>C	ENST00000254480.5	-	7	807	c.688T>G	c.(688-690)Tta>Gta	p.L230V	SMARCC1_ENST00000425518.1_5'UTR	NM_003074.3	NP_003065.3	Q92922	SMRC1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 1	230					chromatin remodeling|nervous system development|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex|WINAC complex	DNA binding|protein N-terminus binding|transcription coactivator activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	33				BRCA - Breast invasive adenocarcinoma(193;7.47e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00862)|Kidney(197;0.01)		CAATGCACTAACACTTGCTTC	0.353													C	47762184	A	C	47762184	3	2	692	1	0	0	0	0	1	0	0	0	14869	40	2	5	2717	5	SMARCC1	3	47762184	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	2629393	47762184	150260246	19	53748											
USP4	7375	broad.mit.edu	37	chr3	49362451	49362451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatgttgaatagcttcCgcatctctttctcgatggtt	7	15	10	9	2	2	1	0	1	2	0	5	3	3	2	1	2	1	4	1	2	2	5	rs117411669	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:49362451C>T	ENST00000351842.4	-	5	517	c.509G>A	c.(508-510)cGg>cAg	p.R170Q	USP4_ENST00000416417.1_Missense_Mutation_p.R170Q|USP4_ENST00000265560.4_Missense_Mutation_p.R170Q|USP4_ENST00000415188.1_Missense_Mutation_p.R170Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	170					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		GAATAGCTTCCGCATCTCTTT	0.488													T	49362451	C	T	49362451	3	4	692	1	0	0	0	0	1	0	0	0	17173	652	23	1	2454	1	USP4	3	49362451	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	1600267	49362451	148659979	20	53749											
KBTBD8	84541	broad.mit.edu	37	chr3	67058751	67058751	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcggctctgggaccttggccGgcattttgaatgtgctgttg	4	14	14	9	2	1	1	0	1	1	0	2	2	1	2	2	4	1	4	2	4	1	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:67058751G>A	ENST00000295568.4	+	4	1801	c.1670G>A	c.(1669-1671)cGg>cAg	p.R557Q	KBTBD8_ENST00000460576.1_Missense_Mutation_p.R141Q|KBTBD8_ENST00000417314.2_Missense_Mutation_p.R583Q	NM_032505.2	NP_115894.2	Q8NFY9	KBTB8_HUMAN	kelch repeat and BTB (POZ) domain containing 8	583										breast(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)	20		Lung NSC(201;0.0765)		BRCA - Breast invasive adenocarcinoma(55;6.02e-06)|KIRC - Kidney renal clear cell carcinoma(39;0.105)|Kidney(39;0.125)		GACCTTGGCCGGCATTTTGAA	0.443													A	67058751	G	A	67058751	3	1	692	1	0	0	0	0	1	0	0	0	8057	1116	39	1	1762	1	KBTBD8	3	67058751	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	17696300	67058751	130963679	21	53750											
LMOD3	56203	broad.mit.edu	37	chr3	69168928	69168928	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgttctttgaatgctttgTcagttacctgctggcagttg	5	18	10	8	0	3	1	1	1	2	0	3	1	3	1	1	1	3	6	1	1	2	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:69168928T>C	ENST00000420581.2	-	2	757	c.578A>G	c.(577-579)gAc>gGc	p.D193G	LMOD3_ENST00000475434.1_Missense_Mutation_p.D193G|LMOD3_ENST00000489031.1_Missense_Mutation_p.D193G	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	193						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		GAATGCTTTGTCAGTTACCTG	0.408													C	69168928	T	C	69168928	3	2	692	1	0	0	0	0	1	0	0	0	8919	1667	58	3	1112	3	LMOD3	3	69168928	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2110177	69168928	128853502	22	53751											
CCDC58	131076	broad.mit.edu	37	chr3	122090540	122090540	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagactcataaagttgtttAcaggtttggctggcatcaat	12	13	9	7	0	2	1	2	0	0	1	2	1	2	1	0	3	1	5	0	3	4	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:122090540A>C	ENST00000291458.5	-	2	165	c.159T>G	c.(157-159)tgT>tgG	p.C53W	CCDC58_ENST00000479899.1_Missense_Mutation_p.C39W|CCDC58_ENST00000497726.1_Intron	NM_001017928.2	NP_001017928.1	Q4VC31	CCD58_HUMAN	coiled-coil domain containing 58	53										large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(114;0.148)		AAAGTTGTTTACAGGTTTGGC	0.373													C	122090540	A	C	122090540	3	2	692	1	0	0	0	0	1	0	0	0	2856	389	14	5	291	5	CCDC58	3	122090540	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	52921612	122090540	75931890	23	53752											
SUCNR1	56670	broad.mit.edu	37	chr3	151598945	151598945	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctctttttgtgatgtgttTcttttattacaagattgctc	6	22	6	7	0	2	2	0	1	2	1	4	2	3	2	1	0	2	2	1	0	3	7			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:151598945T>C	ENST00000362032.5	+	3	719	c.614T>C	c.(613-615)tTc>tCc	p.F205S	RP11-454C18.2_ENST00000483843.2_RNA|RP11-454C18.2_ENST00000475855.1_RNA	NM_033050.4	NP_149039.2	Q9BXA5	SUCR1_HUMAN	succinate receptor 1							integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	14			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0813)		Succinic acid(DB00139)	GTGATGTGTTTCTTTTATTAC	0.428													C	151598945	T	C	151598945	3	2	692	1	0	0	0	0	1	0	0	0	15462	1783	62	3	620	3	SUCNR1	3	151598945	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	29508405	151598945	46423485	24	53753											
MUC4	4585	broad.mit.edu	37	chr3	195513169	195513169	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaagtgtcggtgacaggaAgaggggtggcctgacctgtg	9	7	19	6	1	0	3	0	2	0	1	1	5	0	5	2	6	0	0	2	6	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr3:195513169A>G	ENST00000463781.3	-	2	5741	c.5282T>C	c.(5281-5283)cTt>cCt	p.L1761P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.L1761P|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	553					cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGTGACAGGAAGAGGGGTGGC	0.582													G	195513169	A	G	195513169	3	3	692	1	0	0	0	0	1	0	0	0	10054	72	3	3		3	MUC4	3	195513169	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	43914224	195513169	2509261	25	53754											
POLN	353497	broad.mit.edu	37	chr4	2210033	2210033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatgctttcttttatgccccTttttctgtagaactgaagcc	8	17	6	10	0	2	2	0	1	2	1	2	2	2	2	3	0	4	2	3	0	5	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:2210033T>C	ENST00000511885.2	-	5	748	c.395A>G	c.(394-396)aAg>aGg	p.K132R	POLN_ENST00000382865.1_Missense_Mutation_p.K132R|POLN_ENST00000515357.1_5'UTR			Q7Z5Q5	DPOLN_HUMAN	polymerase (DNA directed) nu	132					DNA repair|DNA replication	nucleus	DNA binding|DNA-directed DNA polymerase activity			kidney(6)|large_intestine(5)|liver(1)|lung(8)|ovary(2)|skin(4)|urinary_tract(2)	28			OV - Ovarian serous cystadenocarcinoma(23;0.0955)			TTTATGCCCCTTTTTCTGTAG	0.313								DNA polymerases (catalytic subunits)					C	2210033	T	C	2210033	3	2	692	1	0	0	0	0	1	0	0	0	12284	1609	56	3	2395	3	POLN	4	2210033	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		2210033	188944243	26	53755											
TACR3	6870	broad.mit.edu	37	chr4	104512798	104512798	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgatagggcagccagcAgatagcaaatgtcatgacaa	17	7	10	7	0	1	3	1	2	0	1	1	3	1	3	1	1	3	3	1	1	6	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:104512798A>G	ENST00000304883.2	-	4	1071	c.931T>C	c.(931-933)Tgc>Cgc	p.C311R	RP11-297P16.3_ENST00000512401.1_RNA|RP11-297P16.3_ENST00000502936.1_RNA	NM_001059.2	NP_001050.1	P29371	NK3R_HUMAN	tachykinin receptor 3	311						integral to plasma membrane	tachykinin receptor activity			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51		Hepatocellular(203;0.217)		UCEC - Uterine corpus endometrioid carcinoma (10;0.22)|OV - Ovarian serous cystadenocarcinoma(123;3.4e-08)		GGCAGCCAGCAGATAGCAAAT	0.338													G	104512798	A	G	104512798	3	3	692	1	0	0	0	0	1	0	0	0	15604	188	7	3	474	3	TACR3	4	104512798	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	102302765	104512798	86641478	27	53756											
ANKRD50	57182	broad.mit.edu	37	chr4	125631651	125631651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cattttgcagactttctcttCccaaggattagtcataacgg	10	14	7	10	1	2	1	1	0	1	1	4	2	3	2	1	2	2	1	1	2	3	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:125631651C>T	ENST00000504087.1	-	2	1053	c.16G>A	c.(16-18)Gaa>Aaa	p.E6K	ANKRD50_ENST00000515641.1_Intron	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	6										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						ACTTTCTCTTCCCAAGGATTA	0.408													T	125631651	C	T	125631651	3	4	692	1	0	0	0	0	1	0	0	0	677	864	30	2	4285	2	ANKRD50	4	125631651	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	21118853	125631651	65522625	28	53757											
FBXW7	55294	broad.mit.edu	37	chr4	153251912	153251912	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgagttctcctcgcctcCagttagtatcaattctgtgc	7	16	7	11	1	3	1	1	1	2	0	6	1	4	1	3	0	1	3	3	0	3	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:153251912C>G	ENST00000281708.4	-	7	2323	c.1094G>C	c.(1093-1095)tGg>tCg	p.W365S	FBXW7_ENST00000603548.1_Missense_Mutation_p.W365S|FBXW7_ENST00000603841.1_Missense_Mutation_p.W365S|FBXW7_ENST00000263981.5_Missense_Mutation_p.W285S|FBXW7_ENST00000296555.5_Missense_Mutation_p.W247S|FBXW7_ENST00000393956.3_Missense_Mutation_p.W189S	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	365					interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TCCTCGCCTCCAGTTAGTATC	0.398			"Mis, N, D, F"		"colorectal, endometrial, T-ALL"								G	153251912	C	G	153251912	3	3	692	1	0	0	0	0	1	0	0	0	5818	595	21	4	1053	4	FBXW7	4	153251912	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	27620261	153251912	37902364	29	53758											
MND1	84057	broad.mit.edu	37	chr4	154265890	154265890	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcccctgcgcccgcgccAtggtaaggactgaggctacg	8	5	14	14	4	0	1	0	1	0	0	0	3	0	2	4	3	3	2	4	3	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr4:154265890A>T	ENST00000240488.3	+	1	90	c.1A>T	c.(1-3)Atg>Ttg	p.M1L	MND1_ENST00000503967.1_3'UTR	NM_001253861.1|NM_032117.3	NP_001240790.1|NP_115493.1	Q9BWT6	MND1_HUMAN	meiotic nuclear divisions 1 homolog (S. cerevisiae)	1					DNA recombination|meiosis	nucleus	DNA binding			large_intestine(2)|lung(1)	3	all_hematologic(180;0.093)					CGCCCGCGCCATGGTAAGGAC	0.711													T	154265890	A	T	154265890	1	4	692	1	0	0	0	0	0	0	0	0	9751	217	8	5		5	MND1	4	154265890	Translation_Start_Site	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	1013978	154265890	36888386	30	53759											
SLC9A3	6550	broad.mit.edu	37	chr5	524298	524298	+	Frame_Shift_Del	DEL	A	A	-																															cctgcacgtgggcccactcgAaggtgaccacctggaagccc																										TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:524298delA	ENST00000264938.3	-	1	149	c.140delT	c.(139-141)ttcfs	p.F47fs	SLC9A3_ENST00000514375.1_Frame_Shift_Del_p.F47fs	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	47						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			GGCCCACTCGAAGGTGACCAC	0.731													-	524298	A	-	524298	7	5	692	1	0	1	0	1	0	0	0	0	14807	246	9	0	2432	0	SLC9A3	5	524298	Frame_Shift_Del	DEL	A	TCGA-S9-A6TS-01A-12D-A33T-08		524298	180390962	31	53760											
TCERG1	10915	broad.mit.edu	37	chr5	145838643	145838643	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggctcaggctcaggcccAggcccaggcccaggcccagg	7	2	14	18	0	2	0	2	0	0	0	2	0	2	0	5	7	0	2	5	7	0	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr5:145838643A>C	ENST00000296702.5	+	4	673	c.635A>C	c.(634-636)cAg>cCg	p.Q212P	TCERG1_ENST00000394421.2_Missense_Mutation_p.Q212P	NM_006706.3	NP_006697.2	O14776	TCRG1_HUMAN	transcription elongation regulator 1	212	Ala/Gln-rich.				regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(18)|lung(9)|ovary(2)|prostate(3)|skin(1)	46		Lung NSC(249;0.00188)|all_lung(500;0.00307)|all_neural(839;0.0424)|Breast(839;0.0743)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			gctcaggcccaggcccaggcc	0.736													C	145838643	A	C	145838643	3	2	692	1	0	0	0	0	1	0	0	0	15785	188	7	5	649	5	TCERG1	5	145838643	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	145314345	145838643	35076617	32	53761											
TFAP2B	7021	broad.mit.edu	37	chr6	50810826	50810826	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caactttgtaaagaatttacGgatctactggcgcaggaccg	12	10	10	9	3	1	1	0	0	1	1	1	3	1	3	1	3	3	2	1	3	6	5	rs151001753	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:50810826G>T	ENST00000263046.4	+	8	1297	c.1131G>T	c.(1129-1131)acG>acT	p.T377T	TFAP2B_ENST00000393655.3_Silent_p.T368T			Q92481	AP2B_HUMAN	transcription factor AP-2 beta (activating enhancer binding protein 2 beta)	368				QLCKEFTDLLAQDRTPIGNSRPSPILEPGIQSCLTHFSLIT HGFGAPAICAALTALQNYLTEALKGMDKMFLNNTTTNRHTS GEGPGSKTGDKEEKHRK -> GNFVKNLRIYWRRTGHR (in Ref. 1; CAA71047).	nervous system development|positive regulation of transcription from RNA polymerase II promoter		protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(11)|lung(16)|prostate(2)|upper_aerodigestive_tract(1)	40	Lung NSC(77;0.156)					AAGAATTTACGGATCTACTGG	0.557													T	50810826	G	T	50810826	2	4	692	1	0	0	0	0	0	0	0	1	15888	1103	39	4		4	TFAP2B	6	50810826	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		50810826	120304241	33	53762											
HACE1	57531	broad.mit.edu	37	chr6	105177553	105177553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcattatgccattgtgtaaCcatagctgccacaatgtagt	11	14	7	9	0	1	0	1	0	0	0	1	0	1	0	3	0	4	3	3	0	5	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:105177553C>T	ENST00000262903.4	-	24	2990	c.2714G>A	c.(2713-2715)gGt>gAt	p.G905D	HACE1_ENST00000517995.1_5'UTR|HACE1_ENST00000369125.2_Missense_Mutation_p.G690D	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	905	HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		CATTGTGTAACCATAGCTGCC	0.383													T	105177553	C	T	105177553	3	4	692	1	0	0	0	0	1	0	0	0	6995	507	18	2	19	2	HACE1	6	105177553	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	54366727	105177553	65937514	34	53763											
LAMA2	3908	broad.mit.edu	37	chr6	129781361	129781361	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaaggctgatgctgtacGtgtgattacattcactggct	9	12	12	8	1	1	3	1	2	0	1	1	3	1	3	0	2	3	5	0	2	3	3	rs142164767	by1000genomes	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr6:129781361G>A	ENST00000421865.2	+	49	6933	c.6884G>A	c.(6883-6885)cGt>cAt	p.R2295H		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	2295	Laminin G-like 1.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATGCTGTACGTGTGATTACA	0.383													A	129781361	G	A	129781361	3	1	692	1	0	0	0	0	1	0	0	0	8665	1145	40	1	7078	1	LAMA2	6	129781361	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	24603808	129781361	41333706	35	53764											
RNF216	54476	broad.mit.edu	37	chr7	5662580	5662580	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accgaagtcatagttgacccGcacgttgggcagagggggca	10	6	15	10	3	1	2	1	1	0	1	1	3	1	2	2	3	0	5	2	3	2	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:5662580G>A	ENST00000425013.2	-	17	2736	c.2512C>T	c.(2512-2514)Cgg>Tgg	p.R838W	RNF216_ENST00000469375.1_5'UTR|RNF216_ENST00000389902.3_Missense_Mutation_p.R895W	NM_207111.3|NM_207116.2	NP_996994.1|NP_996999.1	Q9NWF9	RN216_HUMAN	ring finger protein 216	838	Pro-rich.				apoptosis|interspecies interaction between organisms|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination|regulation of defense response to virus by host|regulation of interferon-beta production	cytoplasm|nucleus	ligase activity|protein binding|zinc ion binding	p.R895W(1)	FBXL18/RNF216(2)	breast(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)|skin(1)|urinary_tract(4)	33		Ovarian(82;0.07)		UCEC - Uterine corpus endometrioid carcinoma (126;0.135)|OV - Ovarian serous cystadenocarcinoma(56;2.69e-13)		TAGTTGACCCGCACGTTGGGC	0.642													A	5662580	G	A	5662580	3	1	692	1	0	0	0	0	1	0	0	0	13571	1086	38	1	92	1	RNF216	7	5662580	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		5662580	153476083	36	53765											
POM121L12	285877	broad.mit.edu	37	chr7	53104086	53104086	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcctctgaagccgagcctcgGcccctggagcctcagttttt	5	10	11	15	2	2	1	1	1	1	0	3	3	2	2	6	2	3	1	6	2	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:53104086G>T	ENST00000408890.4	+	1	738	c.722G>T	c.(721-723)gGc>gTc	p.G241V		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	241										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						CCGAGCCTCGGCCCCTGGAGC	0.647													T	53104086	G	T	53104086	3	4	692	1	0	0	0	0	1	0	0	0	12318	1203	42	4	724	4	POM121L12	7	53104086	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	47441506	53104086	106034577	37	53766											
ABCB1	5243	broad.mit.edu	37	chr7	87145840	87145840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaccggcattaggccttcCgtgctgtagctgtcaatcaa	8	11	9	13	2	3	0	3	0	0	0	4	0	4	0	3	2	2	4	3	2	4	3	rs138566631	byFrequency	TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:87145840C>T	ENST00000265724.3	-	25	3486	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	ABCB1_ENST00000488737.2_5'UTR|ABCB1_ENST00000543898.1_Silent_p.T959T	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	1023					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	p.T1023T(1)		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)	TTAGGCCTTCCGTGCTGTAGC	0.388													T	87145840	C	T	87145840	2	4	692	1	0	0	0	0	0	0	0	1	40	639	23	1		1	ABCB1	7	87145840	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	34041754	87145840	71992823	38	53767											
MUC17	140453	broad.mit.edu	37	chr7	100685442	100685442	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcattaacaactatgcTcctcagcagcacatatgtga	12	12	5	12	0	3	1	2	1	1	0	4	1	4	1	1	0	5	3	1	0	4	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr7:100685442T>A	ENST00000306151.4	+	3	10809	c.10745T>A	c.(10744-10746)cTc>cAc	p.L3582H		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3582	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)					ACAACTATGCTCCTCAGCAGC	0.473													A	100685442	T	A	100685442	3	1	692	1	0	0	0	0	1	0	0	0	10050	1551	54	5	10755	5	MUC17	7	100685442	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	13539602	100685442	58453221	39	53768											
NAT2	10	broad.mit.edu	37	chr8	18257674	18257674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagttgggcttagaggCtatttttgatcacattgtaa	10	15	11	5	0	1	2	1	1	0	1	1	3	1	3	0	3	0	4	0	3	3	7			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:18257674C>T	ENST00000286479.3	+	2	268	c.161C>T	c.(160-162)gCt>gTt	p.A54V	NAT2_ENST00000520116.1_Intron	NM_000015.2	NP_000006.2	P11245	ARY2_HUMAN	N-acetyltransferase 2 (arylamine N-acetyltransferase)	54					xenobiotic metabolic process	cytosol	arylamine N-acetyltransferase activity			kidney(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(2)	12				Colorectal(111;0.0531)|COAD - Colon adenocarcinoma(73;0.21)		GGCTTAGAGGCTATTTTTGAT	0.473									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				T	18257674	C	T	18257674	3	4	692	1	0	0	0	0	1	0	0	0	10253	797	28	2	163	2	NAT2	8	18257674	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		18257674	128106348	40	53769											
PKHD1L1	93035	broad.mit.edu	37	chr8	110477389	110477389	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtgcaaagtttgttgaCgtccagtattctcacacacc	10	12	9	10	1	1	1	1	1	1	0	3	2	2	2	2	1	1	4	2	1	2	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:110477389C>T	ENST00000378402.5	+	49	8432	c.8328C>T	c.(8326-8328)gaC>gaT	p.D2776D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2776					immune response	cytosol|extracellular space|integral to membrane	receptor activity	p.D2778D(2)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			AGTTTGTTGACGTCCAGTATT	0.433										HNSCC(38;0.096)			T	110477389	C	T	110477389	2	4	692	1	0	0	0	0	0	0	0	1	12049	535	19	1		1	PKHD1L1	8	110477389	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	92219715	110477389	35886633	41	53770											
ZFAT	57623	broad.mit.edu	37	chr8	135596191	135596191	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgattcatatgagccttgAggttactcttgctacgagtt	9	14	10	8	2	2	2	1	2	1	0	2	5	2	2	1	1	4	3	1	1	3	7			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:135596191A>C	ENST00000520727.1	-	11	3034	c.2735T>G	c.(2734-2736)cTc>cGc	p.L912R	ZFAT_ENST00000429442.2_Missense_Mutation_p.L912R|ZFAT_ENST00000520214.1_Missense_Mutation_p.L912R|ZFAT_ENST00000520356.1_Missense_Mutation_p.L912R|ZFAT_ENST00000377838.3_Missense_Mutation_p.L924R|ZFAT_ENST00000523399.1_Missense_Mutation_p.L862R|ZFAT_ENST00000517307.1_5'UTR	NM_001029939.3	NP_001025110.2	Q9P243	ZFAT_HUMAN	zinc finger and AT hook domain containing	924					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	DNA binding|zinc ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(9)|large_intestine(8)|lung(16)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	54	all_epithelial(106;8.26e-19)|Lung NSC(106;3.47e-07)|all_lung(105;1.39e-06)|Ovarian(258;0.0102)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0432)			ATGAGCCTTGAGGTTACTCTT	0.403													C	135596191	A	C	135596191	3	2	692	1	0	0	0	0	1	0	0	0	17733	304	11	5	988	5	ZFAT	8	135596191	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	25118802	135596191	10767831	42	53771											
SLC39A4	55630	broad.mit.edu	37	chr8	145638211	145638211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatccaggcctcgctctcctCgctgactccaaccgcgagtg	6	8	10	17	4	1	1	0	1	1	0	6	3	3	1	5	1	1	2	5	1	1	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr8:145638211C>T	ENST00000276833.5	-	10	1975	c.1672G>A	c.(1672-1674)Gag>Aag	p.E558K	SLC39A4_ENST00000301305.3_Missense_Mutation_p.E583K|SLC39A4_ENST00000531013.1_5'UTR	NM_001280557.1|NM_017767.2	NP_001267486.1|NP_060237	Q6P5W5	S39A4_HUMAN	solute carrier family 39 (zinc transporter), member 4	583						cytoplasmic membrane-bounded vesicle|integral to membrane|recycling endosome membrane	zinc ion transmembrane transporter activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	14	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;1.12e-40)|all cancers(56;8.17e-36)|BRCA - Breast invasive adenocarcinoma(115;0.0407)|Colorectal(110;0.055)			TCGCTCTCCTCGCTGACTCCA	0.677													T	145638211	C	T	145638211	3	4	692	1	0	0	0	0	1	0	0	0	14714	893	31	1	204	1	SLC39A4	8	145638211	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	10042020	145638211	725811	43	53772											
AQP7	364	broad.mit.edu	37	chr9	33387018	33387018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgactccgaagccaaaacCcaagttgacaccaaggtagc	14	5	10	12	1	0	2	0	2	0	0	1	3	1	2	4	2	3	2	4	2	6	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:33387018C>T	ENST00000539936.1	-	4	455	c.217G>A	c.(217-219)Ggt>Agt	p.G73S	AQP7_ENST00000541274.1_Intron|AQP7_ENST00000377425.4_Missense_Mutation_p.G16S|AQP7_ENST00000537089.1_Intron			O14520	AQP7_HUMAN	aquaporin 7	73					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		AAGCCAAAACCCAAGTTGACA	0.577													T	33387018	C	T	33387018	3	4	692	1	0	0	0	0	1	0	0	0	834	623	22	2	831	2	AQP7	9	33387018	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		33387018	107826413	44	53773											
GRIN3A	116443	broad.mit.edu	37	chr9	104433268	104433268	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcccaagcgggtccacattgGctttcccatggggtcatgtt	6	11	12	12	1	1	0	1	0	0	0	3	0	3	0	3	4	1	2	3	4	1	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr9:104433268G>T	ENST00000361820.3	-	3	2026	c.1426C>A	c.(1426-1428)Cca>Aca	p.P476T		NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A	476					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|neuron projection|neuronal cell body|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|glycine binding|identical protein binding|N-methyl-D-aspartate selective glutamate receptor activity|protein phosphatase 2A binding			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Ketamine(DB01221)|L-Glutamic Acid(DB00142)|Memantine(DB01043)|Meperidine(DB00454)|Methadone(DB00333)|Orphenadrine(DB01173)|Procaine(DB00721)|Riluzole(DB00740)	GTCCACATTGGCTTTCCCATG	0.507													T	104433268	G	T	104433268	3	4	692	1	0	0	0	0	1	0	0	0	6838	1203	42	4	1949	4	GRIN3A	9	104433268	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	71046250	104433268	36780163	45	53774											
HSPA14	51182	broad.mit.edu	37	chr10	14891775	14891775	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatgtagttattactgtcccGtttgattttggagaaaagca	11	15	10	5	1	0	2	0	1	0	1	1	4	1	2	1	1	2	4	1	1	5	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:14891775G>A	ENST00000378372.3	+	6	671	c.432G>A	c.(430-432)ccG>ccA	p.P144P		NM_016299.2	NP_057383.2	Q0VDF9	HSP7E_HUMAN	heat shock 70kDa protein 14	144					'de novo' cotranslational protein folding	cytosol	ATP binding|protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	17						TTACTGTCCCGTTTGATTTTG	0.323													A	14891775	G	A	14891775	2	1	692	1	0	0	0	0	0	0	0	1	7464	1132	40	1		1	HSPA14	10	14891775	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		14891775	120642972	46	53775											
FAM171A1	221061	broad.mit.edu	37	chr10	15254949	15254949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgccatcaggggcctctcctCccgtttctgccaggggcttt	3	11	11	16	2	3	0	1	0	2	0	5	0	4	0	5	4	1	2	5	4	0	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:15254949C>G	ENST00000378116.4	-	8	2644	c.2638G>C	c.(2638-2640)Gag>Cag	p.E880Q		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	880						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCCTCTCCTCCCGTTTCTGC	0.507													G	15254949	C	G	15254949	3	3	692	1	0	0	0	0	1	0	0	0	5535	864	30	4	38	4	FAM171A1	10	15254949	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	363174	15254949	120279798	47	53776											
YME1L1	10730	broad.mit.edu	37	chr10	27410369	27410369	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttatgataactccttcattgGgtttaaaactatattggaaa	14	16	6	5	0	1	1	1	1	0	0	2	2	2	2	1	2	2	1	1	2	7	9			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr10:27410369G>C	ENST00000326799.3	-	13	1563	c.1415C>G	c.(1414-1416)cCc>cGc	p.P472R	YME1L1_ENST00000375972.3_Missense_Mutation_p.P382R|YME1L1_ENST00000376016.3_Missense_Mutation_p.P415R	NM_139312.2	NP_647473.1	Q96TA2	YMEL1_HUMAN	YME1-like 1 ATPase	472					protein catabolic process|proteolysis	membrane|mitochondrion	ATP binding|metal ion binding|metalloendopeptidase activity|nucleoside-triphosphatase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23						TCCTTCATTGGGTTTAAAACT	0.318													C	27410369	G	C	27410369	3	2	692	1	0	0	0	0	1	0	0	0	17589	1232	43	4	938	4	YME1L1	10	27410369	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	12155420	27410369	108124378	48	53777											
LRRC56	115399	broad.mit.edu	37	chr11	550110	550110	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacaacatctcggacctgagCccactgtgcctgctggaaca	11	7	9	14	1	1	1	0	1	1	0	2	3	1	3	3	2	6	1	3	2	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:550110C>A	ENST00000270115.7	+	8	962	c.462C>A	c.(460-462)agC>agA	p.S154R		NM_198075.3	NP_932341.1	Q8IYG6	LRC56_HUMAN	leucine rich repeat containing 56	154										kidney(1)|lung(4)|skin(1)	6		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.63e-28)|Epithelial(43;7.29e-27)|OV - Ovarian serous cystadenocarcinoma(40;7.15e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CGGACCTGAGCCCACTGTGCC	0.677													A	550110	C	A	550110	3	1	692	1	0	0	0	0	1	0	0	0	9082	738	26	4	480	4	LRRC56	11	550110	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		550110	134456406	49	53778											
OR52E6	390078	broad.mit.edu	37	chr11	5862807	5862807	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctctccatgacagtgaagaaAtggatgaagaacatctgaga	16	8	10	7	0	2	6	0	4	2	3	3	8	2	7	1	1	1	0	1	1	4	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:5862807A>C	ENST00000329322.5	-	1	320	c.321T>G	c.(319-321)caT>caG	p.H107Q	OR52E6_ENST00000379946.2_Missense_Mutation_p.H111Q|TRIM5_ENST00000380027.1_Intron	NM_001005167.1	NP_001005167.1	Q96RD3	O52E6_HUMAN	olfactory receptor, family 52, subfamily E, member 6	107					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	27		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;2.55e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CAGTGAAGAAATGGATGAAGA	0.463													C	5862807	A	C	5862807	3	2	692	1	0	0	0	0	1	0	0	0	11193	98	4	5	622	5	OR52E6	11	5862807	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	5312697	5862807	129143709	50	53779											
OR2AG2	338755	broad.mit.edu	37	chr11	6789589	6789589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaagtcacacctgtcacGtatattataagctcatacct	14	11	6	10	1	3	0	3	0	0	0	3	1	3	1	2	1	2	2	2	1	6	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:6789589G>A	ENST00000338569.2	-	1	697	c.600C>T	c.(598-600)taC>taT	p.Y200Y		NM_001004490.1	NP_001004490.1	A6NM03	O2AG2_HUMAN	olfactory receptor, family 2, subfamily AG, member 2	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(13)|ovary(1)|skin(5)|stomach(1)|urinary_tract(1)	28		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)		Epithelial(150;2.15e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		CACCTGTCACGTATATTATAA	0.493													A	6789589	G	A	6789589	2	1	692	1	0	0	0	0	0	0	0	1	11061	1140	40	1		1	OR2AG2	11	6789589	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	926782	6789589	128216927	51	53780											
OR4C11	219429	broad.mit.edu	37	chr11	55371229	55371229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attatcaaaatcatgaaactActtgagcaaattgccccact	16	11	4	10	0	2	2	2	2	0	0	2	2	2	2	2	0	4	1	2	0	6	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55371229A>G	ENST00000302231.4	-	1	645	c.621T>C	c.(619-621)agT>agC	p.S207S		NM_001004700.2	NP_001004700.2	Q6IEV9	OR4CB_HUMAN	olfactory receptor, family 4, subfamily C, member 11	207					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(5)|lung(23)|ovary(1)|prostate(1)|skin(1)	33						TCATGAAACTACTTGAGCAAA	0.423													G	55371229	A	G	55371229	2	3	692	1	0	0	0	0	0	0	0	1	11121	388	14	3		3	OR4C11	11	55371229	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	48581640	55371229	79635287	52	53781											
OR4S2	219431	broad.mit.edu	37	chr11	55419188	55419188	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcagaggataagatggtggCtgtattttacaccattatca	12	14	9	6	0	2	2	2	0	0	2	2	3	2	3	1	3	1	2	1	3	4	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:55419188C>T	ENST00000312422.2	+	1	809	c.809C>T	c.(808-810)gCt>gTt	p.A270V		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				AAGATGGTGGCTGTATTTTAC	0.423													T	55419188	C	T	55419188	3	4	692	1	0	0	0	0	1	0	0	0	11159	797	28	2	811	2	OR4S2	11	55419188	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	47959	55419188	79587328	53	53782											
OR8K3	219473	broad.mit.edu	37	chr11	56085997	56085997	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctggctttcatggatcttgGttattcaacaactgtgggac	8	15	10	8	0	4	0	2	0	2	0	4	2	4	2	0	4	2	2	0	4	3	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:56085997G>A	ENST00000312711.1	+	1	215	c.215G>A	c.(214-216)gGt>gAt	p.G72D		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					ATGGATCTTGGTTATTCAACA	0.378													A	56085997	G	A	56085997	3	1	692	1	0	0	0	0	1	0	0	0	11320	1261	44	2	217	2	OR8K3	11	56085997	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	666809	56085997	78920519	54	53783											
C11orf80	79703	broad.mit.edu	37	chr11	66555677	66555677	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgcaaagctgacttggacTtcagaggaaggcagctattc	11	10	11	9	0	2	2	1	1	1	1	3	4	2	4	0	3	3	4	0	3	3	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:66555677T>G	ENST00000360962.4	+	5	577	c.570T>G	c.(568-570)acT>acG	p.T190T	C11orf80_ENST00000527634.1_Intron|C11orf80_ENST00000532565.2_5'UTR|C11orf80_ENST00000527368.1_3'UTR|C11orf80_ENST00000346672.4_Silent_p.T35T|C11orf80_ENST00000525449.2_Silent_p.T35T|C11orf80_ENST00000540737.1_Silent_p.T24T	NM_024650.3	NP_078926.3	Q8N6T0	CK080_HUMAN	chromosome 11 open reading frame 80	35										autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	14						TGACTTGGACTTCAGAGGAAG	0.418													G	66555677	T	G	66555677	2	3	692	1	0	0	0	0	0	0	0	1	1676	1596	56	5		5	C11orf80	11	66555677	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	10469680	66555677	68450839	55	53784											
NEU3	10825	broad.mit.edu	37	chr11	74716640	74716640	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccgcctttgcttcatctaCagtcaggatgctggatgttc	6	13	10	12	1	3	0	2	0	1	0	4	2	3	2	2	2	3	3	2	2	1	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:74716640C>G	ENST00000294064.4	+	3	1416	c.489C>G	c.(487-489)taC>taG	p.Y163*	NEU3_ENST00000529024.1_Missense_Mutation_p.Q93E|NEU3_ENST00000544263.1_Nonsense_Mutation_p.Y130*|NEU3_ENST00000531509.1_Nonsense_Mutation_p.Y163*|NEU3_ENST00000545272.1_Nonsense_Mutation_p.Y54*|NEU3_ENST00000532963.1_Missense_Mutation_p.Q93E	NM_006656.5	NP_006647.3	A8K327	A8K327_HUMAN	sialidase 3 (membrane sialidase)	163										kidney(2)|large_intestine(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	11						GCTTCATCTACAGTCAGGATG	0.547													G	74716640	C	G	74716640	4	3	692	1	0	0	0	0	0	1	0	0	10419	489	17	4	499	4	NEU3	11	74716640	Nonsense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	8160963	74716640	60289876	56	53785											
THRSP	7069	broad.mit.edu	37	chr11	77775098	77775098	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgaggcccctgatctctaCacctacttcaccatgctcaa	9	10	6	16	0	3	2	2	2	1	0	4	2	3	2	4	1	3	2	4	1	3	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:77775098C>T	ENST00000281030.2	+	1	192	c.171C>T	c.(169-171)taC>taT	p.Y57Y	NDUFC2-KCTD14_ENST00000528251.1_Intron|NDUFC2-KCTD14_ENST00000530054.1_Intron	NM_003251.3	NP_003242.1	Q92748	THRSP_HUMAN	thyroid hormone responsive	57					lipid biosynthetic process|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	7	all_cancers(14;2.23e-19)|all_epithelial(13;7.49e-22)|Breast(9;6.38e-17)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;2.15e-25)			CTGATCTCTACACCTACTTCA	0.632													T	77775098	C	T	77775098	2	4	692	1	0	0	0	0	0	0	0	1	15976	489	17	2		2	THRSP	11	77775098	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	3058458	77775098	57231418	57	53786											
KCNJ5	3762	broad.mit.edu	37	chr11	128781870	128781870	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cacatcgtggaggcctccatCcgggccaagctcatcaagtc	9	7	10	15	2	2	0	2	0	0	0	6	1	4	1	4	3	1	1	4	3	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr11:128781870C>A	ENST00000529694.1	+	2	1078	c.702C>A	c.(700-702)atC>atA	p.I234I	KCNJ5_ENST00000533599.1_Silent_p.I234I|KCNJ5_ENST00000338350.4_Silent_p.I234I	NM_000890.3	NP_000881.3	P48544	IRK5_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 5	234					synaptic transmission	voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			NS(1)|breast(1)|endometrium(4)|large_intestine(4)|liver(2)|lung(9)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	26	all_hematologic(175;0.0641)	Lung NSC(97;0.00038)|all_lung(97;0.000817)|Breast(109;0.00123)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0059)|LUSC - Lung squamous cell carcinoma(976;0.021)|Lung(977;0.0215)	Glibenclamide(DB01016)	AGGCCTCCATCCGGGCCAAGC	0.607													A	128781870	C	A	128781870	2	1	692	1	0	0	0	0	0	0	0	1	8112	845	30	4		4	KCNJ5	11	128781870	Silent	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	51006772	128781870	6224646	58	53787											
AAAS	8086	broad.mit.edu	37	chr12	53703027	53703027	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accccacctcctcggaaccaGggaagggggacacaggtctc	10	4	12	15	1	1	0	0	0	1	0	4	3	2	3	5	5	1	0	5	5	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:53703027G>C	ENST00000209873.4	-	9	1014	c.849C>G	c.(847-849)ccC>ccG	p.P283P	AAAS_ENST00000394384.3_Silent_p.P250P|AAAS_ENST00000550286.1_Silent_p.P159P	NM_015665.5	NP_056480.1	Q9NRG9	AAAS_HUMAN	achalasia, adrenocortical insufficiency, alacrimia	283					carbohydrate metabolic process|glucose transport|nucleocytoplasmic transport|regulation of glucose transport|regulation of nucleocytoplasmic transport|transmembrane transport|viral reproduction	nuclear pore				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	20						CTCGGAACCAGGGAAGGGGGA	0.572													C	53703027	G	C	53703027	2	2	692	1	0	0	0	0	0	0	0	1	8	987	35	4		4	AAAS	12	53703027	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		53703027	80148868	59	53788											
MYBPC1	4604	broad.mit.edu	37	chr12	102056150	102056150	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggatattttattgagAggaagaagaaacaaagctcc	16	9	10	6	0	0	3	0	1	0	3	1	6	1	5	1	2	3	2	1	2	6	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:102056150A>G	ENST00000549145.1	+	20	2111	c.2011A>G	c.(2011-2013)Agg>Ggg	p.R671G	MYBPC1_ENST00000547509.1_Missense_Mutation_p.R644G|MYBPC1_ENST00000452455.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000550270.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000545503.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000536007.1_Missense_Mutation_p.R639G|MYBPC1_ENST00000541119.1_Missense_Mutation_p.R646G|MYBPC1_ENST00000551300.1_Missense_Mutation_p.R559G|MYBPC1_ENST00000441232.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000361685.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000547405.1_Missense_Mutation_p.R632G|MYBPC1_ENST00000361466.2_Missense_Mutation_p.R683G|MYBPC1_ENST00000360610.2_Missense_Mutation_p.R658G|MYBPC1_ENST00000553190.1_Missense_Mutation_p.R658G|MYBPC1_ENST00000392934.3_Missense_Mutation_p.R645G			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	658	Fibronectin type-III 1.				cell adhesion|muscle filament sliding	cytosol|myofibril|myosin filament	actin binding|structural constituent of muscle|titin binding			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						TTTTATTGAGAGGAAGAAGAA	0.363													G	102056150	A	G	102056150	3	3	692	1	0	0	0	0	1	0	0	0	10087	295	11	3	2129	3	MYBPC1	12	102056150	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	48353123	102056150	31795745	60	53789											
ACACB	32	broad.mit.edu	37	chr12	109610081	109610081	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctttctgtgtttgcaggCggtgtgggctggctggggcc	1	12	17	11	1	1	0	0	0	1	0	1	0	1	0	3	6	1	4	3	6	0	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:109610081C>T	ENST00000338432.7	+	6	1156	c.1037C>T	c.(1036-1038)gCg>gTg	p.A346V	ACACB_ENST00000377848.3_Splice_Site_p.A346V|ACACB_ENST00000377854.5_Splice_Site_p.A346V			O00763	ACACB_HUMAN	acetyl-CoA carboxylase beta	346	Biotin carboxylation.				acetyl-CoA metabolic process|carnitine shuttle|energy reserve metabolic process|fatty acid biosynthetic process|positive regulation of cellular metabolic process|protein homotetramerization|regulation of fatty acid oxidation	cytosol|endomembrane system|Golgi apparatus|membrane	acetyl-CoA carboxylase activity|ATP binding|biotin carboxylase activity|metal ion binding|protein binding			NS(1)|breast(2)|endometrium(9)|kidney(5)|large_intestine(20)|lung(40)|ovary(6)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95					Biotin(DB00121)	TGTTTGCAGGCGGTGTGGGCT	0.532													T	109610081	C	T	109610081	5	4	692	1	0	0	0	0	0	0	1	0	107	782	27	1	1055	1	ACACB	12	109610081	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	7553931	109610081	24241814	61	53790											
HVCN1	84329	broad.mit.edu	37	chr12	111099001	111099001	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagctgaacagtttcctcaAcatgcccctgaagtcaaggg	11	8	11	11	0	2	2	2	2	0	0	3	3	3	3	3	2	4	2	3	2	4	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:111099001A>G	ENST00000356742.5	-	3	1027	c.274T>C	c.(274-276)Ttg>Ctg	p.L92L	HVCN1_ENST00000242607.8_Silent_p.L92L|HVCN1_ENST00000548312.1_Silent_p.L92L|HVCN1_ENST00000439744.2_Silent_p.L72L			Q96D96	HVCN1_HUMAN	hydrogen voltage-gated channel 1	92					response to pH|response to zinc ion	integral to membrane	voltage-gated proton channel activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	19						AGTTTCCTCAACATGCCCCTG	0.652													G	111099001	A	G	111099001	2	3	692	1	0	0	0	0	0	0	0	1	7520	40	2	3		3	HVCN1	12	111099001	Silent	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	1488920	111099001	22752894	62	53791											
DNAH10	196385	broad.mit.edu	37	chr12	124325908	124325908	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgaggtttaatgacggcGatagtggagaaaaactggtg	13	9	14	5	2	0	3	0	2	0	1	0	5	0	3	0	4	1	1	0	4	4	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr12:124325908G>T	ENST00000409039.3	+	29	4847	c.4822G>T	c.(4822-4824)Gat>Tat	p.D1608Y		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	1608	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TAATGACGGCGATAGTGGAGA	0.517													T	124325908	G	T	124325908	3	4	692	1	0	0	0	0	1	0	0	0	4637	1058	37	4	4936	4	DNAH10	12	124325908	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	13226907	124325908	9525987	63	53792											
RXFP2	122042	broad.mit.edu	37	chr13	32352678	32352678	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taataactacttagaagctcTtcccaagcagatgtgtgccc	12	11	7	11	0	1	2	0	0	1	2	2	2	2	2	2	0	5	2	2	0	6	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:32352678T>C	ENST00000298386.2	+	9	814	c.743T>C	c.(742-744)cTt>cCt	p.L248P	RXFP2_ENST00000380314.1_Missense_Mutation_p.L248P	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	248						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		TTAGAAGCTCTTCCCAAGCAG	0.318													C	32352678	T	C	32352678	3	2	692	1	0	0	0	0	1	0	0	0	13851	1609	56	3	777	3	RXFP2	13	32352678	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		32352678	82817200	64	53793											
LMO7	4008	broad.mit.edu	37	chr13	76379755	76379755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaggatgatctttatgtgcGcaagctcagtccagtcatgc	11	11	10	9	1	3	1	2	1	1	0	4	2	4	2	1	1	3	2	1	1	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr13:76379755G>A	ENST00000357063.3	+	10	2471	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R119H|LMO7_ENST00000465261.2_Missense_Mutation_p.R119H|LMO7_ENST00000377534.3_Missense_Mutation_p.R404H|LMO7_ENST00000341547.4_Intron			Q8WWI1	LMO7_HUMAN	LIM domain 7	404						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		CTTTATGTGCGCAAGCTCAGT	0.413													A	76379755	G	A	76379755	3	1	692	1	0	0	0	0	1	0	0	0	8916	1087	38	1	1249	1	LMO7	13	76379755	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	44027077	76379755	38790123	65	53794											
RNASE3	6037	broad.mit.edu	37	chr14	21360166	21360166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtagattccgggtgcctttActccactgtgacctcataaa	10	12	8	11	1	1	2	1	1	0	1	3	2	3	2	4	1	2	1	4	1	4	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr14:21360166A>T	ENST00000304639.3	+	2	379	c.321A>T	c.(319-321)ttA>ttT	p.L107F		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	107					defense response to bacterium|RNA catabolic process	extracellular region|soluble fraction	nucleic acid binding|pancreatic ribonuclease activity			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	GGGTGCCTTTACTCCACTGTG	0.428													T	21360166	A	T	21360166	3	4	692	1	0	0	0	0	1	0	0	0	13496	388	14	5	323	5	RNASE3	14	21360166	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08		21360166	85989374	66	53795											
ATP8B4	79895	broad.mit.edu	37	chr15	50168650	50168650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaatgaaaaatttacgcttgTtaaaaagcagattcagctgt	17	12	7	5	1	1	2	1	1	0	1	1	2	1	2	0	0	3	4	0	0	7	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:50168650T>C	ENST00000284509.6	-	25	2993	c.2852A>G	c.(2851-2853)aAc>aGc	p.N951S	ATP8B4_ENST00000559829.1_Missense_Mutation_p.N951S	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	951					ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		TTTACGCTTGTTAAAAAGCAG	0.443													C	50168650	T	C	50168650	3	2	692	1	0	0	0	0	1	0	0	0	1202	1725	60	3	742	3	ATP8B4	15	50168650	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		50168650	52362742	67	53796											
TNFAIP8L3	388121	broad.mit.edu	37	chr15	51350344	51350344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagaagctgacaatggtcaTggcggtctggttcagcttct	9	12	12	8	1	4	2	2	1	2	1	4	2	4	2	0	4	2	3	0	4	3	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:51350344T>C	ENST00000327536.5	-	3	712	c.613A>G	c.(613-615)Atg>Gtg	p.M205V	RP11-108K3.1_ENST00000559909.1_lincRNA	NM_207381.2	NP_997264.2	Q5GJ75	TP8L3_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 3	205										endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	11				all cancers(107;0.000389)|GBM - Glioblastoma multiforme(94;0.00338)		ACAATGGTCATGGCGGTCTGG	0.512													C	51350344	T	C	51350344	3	2	692	1	0	0	0	0	1	0	0	0	16379	1464	51	3	269	3	TNFAIP8L3	15	51350344	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1181694	51350344	51181048	68	53797											
COMMD4	54939	broad.mit.edu	37	chr15	75630990	75630990	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtctcctttccccatagtatGagaagatcctgaagctcacg	10	11	8	12	1	2	3	1	2	1	2	5	4	4	3	4	0	1	2	4	0	4	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75630990G>A	ENST00000267935.8	+	4	344	c.145G>A	c.(145-147)Gag>Aag	p.E49K	COMMD4_ENST00000564815.1_Missense_Mutation_p.E27K|COMMD4_ENST00000562789.1_Missense_Mutation_p.E55K|COMMD4_ENST00000338995.6_Missense_Mutation_p.E49K|COMMD4_ENST00000567195.1_Missense_Mutation_p.E49K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	49						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						CCCATAGTATGAGAAGATCCT	0.597													A	75630990	G	A	75630990	3	1	692	1	0	0	0	0	1	0	0	0	3749	1291	45	2	159	2	COMMD4	15	75630990	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	24280646	75630990	26900402	69	53798			1	85		2	2	15	G		4.70323e-05
COMMD4	54939	broad.mit.edu	37	chr15	75631004	75631004	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagtatgagaagatcctgaaGctcacggctgacgccaagtt	12	9	11	9	2	1	4	1	3	0	2	2	5	2	4	2	1	1	4	2	1	5	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr15:75631004G>A	ENST00000267935.8	+	4	358	c.159G>A	c.(157-159)aaG>aaA	p.K53K	COMMD4_ENST00000564815.1_Silent_p.K31K|COMMD4_ENST00000562789.1_Silent_p.K59K|COMMD4_ENST00000338995.6_Silent_p.K53K|COMMD4_ENST00000567195.1_Silent_p.K53K	NM_017828.3	NP_060298.2	Q9H0A8	COMD4_HUMAN	COMM domain containing 4	53						cytoplasm	protein binding			breast(3)|endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|prostate(1)	10						AGATCCTGAAGCTCACGGCTG	0.612													A	75631004	G	A	75631004	2	1	692	1	0	0	0	0	0	0	0	1	3749	962	34	2		2	COMMD4	15	75631004	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	14	75631004	26900388	70	53799			1	85		2	2	15	G		4.70323e-05
ZP2	7783	broad.mit.edu	37	chr16	21209105	21209105	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acctcgtgagccaacctcctCccctgtttcactcctactct	6	12	4	19	1	2	1	1	1	1	0	6	1	5	1	7	0	3	1	7	0	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:21209105C>A	ENST00000574002.1	-	19	2559	c.2077G>T	c.(2077-2079)Gag>Tag	p.E693*	ZP2_ENST00000219593.4_Nonsense_Mutation_p.E693*|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000574091.1_Nonsense_Mutation_p.E684*			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	693					binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		CCAACCTCCTCCCCTGTTTCA	0.468													A	21209105	C	A	21209105	4	1	692	1	0	0	0	0	0	1	0	0	18315	864	30	4	168	4	ZP2	16	21209105	Nonsense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		21209105	69145648	71	53800											
IL21R	50615	broad.mit.edu	37	chr16	27459933	27459933	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggtgccctccaccctggagGtgtacagctgccacccacca	8	6	10	17	0	0	0	0	0	0	0	1	1	1	1	6	3	4	2	6	3	1	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:27459933G>T	ENST00000337929.3	+	9	1419	c.946G>T	c.(946-948)Gtg>Ttg	p.V316L	IL21R-AS1_ENST00000563191.1_RNA|IL21R_ENST00000564583.1_3'UTR|IL21R_ENST00000395755.1_Missense_Mutation_p.V316L|IL21R_ENST00000564089.1_Missense_Mutation_p.V316L|IL21R_ENST00000395754.4_Missense_Mutation_p.V316L	NM_181078.2	NP_851564.1	Q9HBE5	IL21R_HUMAN	interleukin 21 receptor	316					natural killer cell activation	integral to membrane	interleukin-21 receptor activity			breast(2)|large_intestine(3)|lung(1)|ovary(2)	8						CACCCTGGAGGTGTACAGCTG	0.627			T	BCL6	NHL								T	27459933	G	T	27459933	3	4	692	1	0	0	0	0	1	0	0	0	7729	1261	44	4	976	4	IL21R	16	27459933	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	6250828	27459933	62894820	72	53801											
SIAH1	6477	broad.mit.edu	37	chr16	48396115	48396115	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atggatcccaaagggccccgGcaagttggacaacatgtgag	12	6	13	10	1	0	1	0	1	0	0	1	3	1	3	3	4	1	2	3	4	3	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr16:48396115G>T	ENST00000380006.2	-	1	1678	c.225C>A	c.(223-225)tgC>tgA	p.C75*	SIAH1_ENST00000394725.2_Nonsense_Mutation_p.C75*|SIAH1_ENST00000356721.3_Nonsense_Mutation_p.C106*			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	75					axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				AAGGGCCCCGGCAAGTTGGAC	0.468													T	48396115	G	T	48396115	4	4	692	1	0	0	0	0	0	1	0	0	14393	1195	42	4	627	4	SIAH1	16	48396115	Nonsense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	20936182	48396115	41958638	73	53802											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	692	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		7577121	73618089	74	53803											
MYH4	4622	broad.mit.edu	37	chr17	10359013	10359013	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcacaccgttacaccTcagctgatgcaggacaagct	11	8	8	14	1	1	1	1	1	0	0	2	2	2	2	3	1	5	5	3	1	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:10359013T>C	ENST00000255381.2	-	19	2202	c.2092A>G	c.(2092-2094)Agg>Ggg	p.R698G	RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	698	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						CCGTTACACCTCAGCTGATGC	0.488													C	10359013	T	C	10359013	3	2	692	1	0	0	0	0	1	0	0	0	10113	1550	54	3	3815	3	MYH4	17	10359013	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	2781892	10359013	70836197	75	53804											
TRAF4	9618	broad.mit.edu	37	chr17	27074931	27074931	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgcatccacagtgaggaggGctgccgctggagtgggccac	7	6	16	12	1	0	1	0	1	0	0	1	3	1	3	3	4	2	3	3	4	0	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27074931G>A	ENST00000262395.5	+	3	395	c.266G>A	c.(265-267)gGc>gAc	p.G89D	TRAF4_ENST00000444415.3_Missense_Mutation_p.G89D|TRAF4_ENST00000262396.6_Missense_Mutation_p.G89D	NM_004295.3	NP_004286.2	Q9BUZ4	TRAF4_HUMAN	TNF receptor-associated factor 4	89					apoptosis|positive regulation of JNK cascade|positive regulation of protein homodimerization activity|positive regulation of protein kinase activity|regulation of apoptosis|signal transduction	cytoskeleton|nucleus|perinuclear region of cytoplasm|tight junction	DNA binding|ubiquitin-protein ligase activity|WW domain binding|zinc ion binding			endometrium(2)|large_intestine(2)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	10	Lung NSC(42;0.01)		Epithelial(11;3.26e-05)|all cancers(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.235)			AGTGAGGAGGGCTGCCGCTGG	0.612													A	27074931	G	A	27074931	3	1	692	1	0	0	0	0	1	0	0	0	16544	1203	42	2	276	2	TRAF4	17	27074931	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	16715918	27074931	54120279	76	53805											
ERAL1	26284	broad.mit.edu	37	chr17	27186225	27186225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctccctgtacagaagaCagcagtgtgggaggaaggac	11	8	14	8	0	1	2	0	0	1	2	2	5	1	5	1	3	2	2	1	3	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:27186225C>T	ENST00000254928.5	+	9	1212	c.1115C>T	c.(1114-1116)aCa>aTa	p.T372I		NM_005702.2	NP_005693.1	O75616	ERAL1_HUMAN	Era-like 12S mitochondrial rRNA chaperone 1	372	KH type-2.				ribosomal small subunit assembly	mitochondrial inner membrane|mitochondrial matrix	GTP binding|ribosomal small subunit binding|rRNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(2)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;1.12e-05)|all cancers(11;5.32e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000272)|OV - Ovarian serous cystadenocarcinoma(11;0.105)			GTACAGAAGACAGCAGTGTGG	0.507													T	27186225	C	T	27186225	3	4	692	1	0	0	0	0	1	0	0	0	5243	478	17	2	1149	2	ERAL1	17	27186225	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	111294	27186225	54008985	77	53806											
HNF1B	6928	broad.mit.edu	37	chr17	36070536	36070536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taccatcaggtgagaggagaTtgtggcctgggtccaggctg	8	9	16	8	0	1	2	1	1	0	2	2	4	2	2	3	5	1	1	3	5	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:36070536T>C	ENST00000225893.4	-	5	1542	c.1181A>G	c.(1180-1182)aAt>aGt	p.N394S	HNF1B_ENST00000427275.2_Missense_Mutation_p.N368S|HNF1B_ENST00000560016.1_Missense_Mutation_p.N394S|HNF1B_ENST00000561193.1_Missense_Mutation_p.N368S	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	394					endocrine pancreas development|genitalia development|kidney development|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|pronephric nephron tubule development|regulation of pronephros size	nucleus	DNA binding|protein homodimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.S388fs*4(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			TGAGAGGAGATTGTGGCCTGG	0.522													C	36070536	T	C	36070536	3	2	692	1	0	0	0	0	1	0	0	0	7307	1493	52	3	512	3	HNF1B	17	36070536	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	8884311	36070536	45124674	78	53807											
TTLL6	284076	broad.mit.edu	37	chr17	46846534	46846534	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagctctgaggactctgcaaGaggagggaggacacatccag	12	6	14	9	0	2	2	0	1	2	1	3	6	3	6	1	4	2	2	1	4	2	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:46846534G>T	ENST00000393382.3	-	15	2634	c.2493C>A	c.(2491-2493)ctC>ctA	p.L831L	TTLL6_ENST00000433608.2_Silent_p.L524L	NM_001130918.1	NP_001124390.1	Q8N841	TTLL6_HUMAN	tubulin tyrosine ligase-like family, member 6	783						cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						GACTCTGCAAGAGGAGGGAGG	0.572													T	46846534	G	T	46846534	2	4	692	1	0	0	0	0	0	0	0	1	16833	929	33	4		4	TTLL6	17	46846534	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	10775998	46846534	34348676	79	53808											
KIF2B	84643	broad.mit.edu	37	chr17	51901793	51901793	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccagccggaaaaggcagctgGaaggggcagagattaacaag	15	3	15	8	1	0	1	0	0	0	1	0	4	0	3	2	5	3	3	2	5	5	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:51901793G>C	ENST00000268919.4	+	1	1555	c.1399G>C	c.(1399-1401)Gaa>Caa	p.E467Q		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	467	Kinesin-motor.				blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity	p.E467*(1)		NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						AAGGCAGCTGGAAGGGGCAGA	0.493													C	51901793	G	C	51901793	3	2	692	1	0	0	0	0	1	0	0	0	8356	1175	41	4	1401	4	KIF2B	17	51901793	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	5055259	51901793	29293417	80	53809											
JMJD6	23210	broad.mit.edu	37	chr17	74722545	74722545	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgcggatgcgcttcttgcTcttgtggttcattctgcggg	2	15	13	11	4	4	0	1	0	3	0	5	1	4	1	0	3	3	3	0	3	0	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr17:74722545T>C	ENST00000445478.2	-	1	216	c.13A>G	c.(13-15)Agc>Ggc	p.S5G	JMJD6_ENST00000585429.1_Missense_Mutation_p.S5G|JMJD6_ENST00000397625.4_Missense_Mutation_p.S5G	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	5					mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						CGCTTCTTGCTCTTGTGGTTC	0.667													C	74722545	T	C	74722545	3	2	692	1	0	0	0	0	1	0	0	0	8011	1551	54	3	1263	3	JMJD6	17	74722545	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	22820752	74722545	6472665	81	53810											
C3	718	broad.mit.edu	37	chr19	6702526	6702526	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcaacgttccacagccaGctctctgggaactcacttcg	8	10	7	16	2	3	0	2	0	1	0	7	1	5	1	3	1	4	2	3	1	2	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:6702526G>T	ENST00000245907.6	-	18	2402	c.2310C>A	c.(2308-2310)agC>agA	p.S770R		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	770					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		TCCACAGCCAGCTCTCTGGGA	0.517													T	6702526	G	T	6702526	3	4	692	1	0	0	0	0	1	0	0	0	2225	962	34	4	2777	4	C3	19	6702526	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08		6702526	52426457	82	53811											
MUC16	94025	broad.mit.edu	37	chr19	9072192	9072192	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtcacaggttccaagcgtGtacgtaatatgtctgtaatc	10	13	10	8	2	2	0	1	0	1	0	4	0	3	0	1	2	2	4	1	2	5	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:9072192G>T	ENST00000397910.4	-	3	15457	c.15254C>A	c.(15253-15255)aCa>aAa	p.T5085K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	5087	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						TTCCAAGCGTGTACGTAATAT	0.433													T	9072192	G	T	9072192	3	4	692	1	0	0	0	0	1	0	0	0	10049	1377	48	4	28597	4	MUC16	19	9072192	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	2369666	9072192	50056791	83	53812											
NWD1	284434	broad.mit.edu	37	chr19	16908642	16908642	+	Frame_Shift_Del	DEL	T	T	-																															agacatggtggagacggctgTttttggtactgagaacaacc																										TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:16908642delT	ENST00000524140.2	+	16	3822	c.3404delT	c.(3403-3405)gttfs	p.V1135fs	NWD1_ENST00000339803.6_Frame_Shift_Del_p.V1000fs|NWD1_ENST00000552788.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000549814.1_Frame_Shift_Del_p.V1135fs|NWD1_ENST00000523826.1_Frame_Shift_Del_p.V929fs|NWD1_ENST00000379808.3_Frame_Shift_Del_p.V1135fs	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1135							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAGACGGCTGTTTTTGGTACT	0.552													-	16908642	T	-	16908642	7	5	692	1	0	1	0	1	0	0	0	0	10857	1725	60	0	3045	0	NWD1	19	16908642	Frame_Shift_Del	DEL	T	TCGA-S9-A6TS-01A-12D-A33T-08	7836450	16908642	42220341	84	53813											
ZNF99	7652	broad.mit.edu	37	chr19	22940995	22940995	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgaagattgcttaaaagcTttgccacattcttcacattt	11	16	6	8	0	2	2	1	1	1	1	2	2	2	2	1	0	3	2	1	0	3	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:22940995T>A	ENST00000397104.3	-	5	1442	c.1443A>T	c.(1441-1443)aaA>aaT	p.K481N	ZNF99_ENST00000596209.1_Missense_Mutation_p.K572N					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTTAAAAGCTTTGCCACATT	0.358													A	22940995	T	A	22940995	3	1	692	1	0	0	0	0	1	0	0	0	18303	1606	56	5	1681	5	ZNF99	19	22940995	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	6032353	22940995	36187988	85	53814											
PLEKHG2	64857	broad.mit.edu	37	chr19	39909586	39909586	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caagaagagaagaggctgtgGattcactgtctccagcgcct	11	8	12	10	1	2	3	1	0	1	3	3	5	2	4	2	2	1	1	2	2	3	1			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:39909586G>C	ENST00000425673.1	+	11	1531	c.1206G>C	c.(1204-1206)tgG>tgC	p.W402C	PLEKHG2_ENST00000409797.2_Missense_Mutation_p.W402C|PLEKHG2_ENST00000378550.1_Missense_Mutation_p.W402C|PLEKHG2_ENST00000458508.2_Missense_Mutation_p.W343C|PLEKHG2_ENST00000409794.3_Missense_Mutation_p.W402C			Q9H7P9	PKHG2_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 2	402	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|pancreas(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	40	all_cancers(60;3.08e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;6.57e-07)|Ovarian(47;0.0569)		Epithelial(26;2.92e-26)|all cancers(26;2.01e-23)|Lung(45;0.000499)|LUSC - Lung squamous cell carcinoma(53;0.000657)			AGAGGCTGTGGATTCACTGTC	0.617													C	39909586	G	C	39909586	3	2	692	1	0	0	0	0	1	0	0	0	12146	1183	41	4	1244	4	PLEKHG2	19	39909586	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	16968591	39909586	19219397	86	53815											
CEACAM4	1089	broad.mit.edu	37	chr19	42132119	42132119	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctctcgaccactgtatgCggcccctgggatatttgctt	5	14	10	12	2	1	0	0	0	1	0	3	2	1	1	3	2	2	2	3	2	2	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42132119C>T	ENST00000221954.2	-	2	390	c.280G>A	c.(280-282)Gca>Aca	p.A94T	CEACAM4_ENST00000600925.1_Missense_Mutation_p.A94T	NM_001817.2	NP_001808.2	O75871	CEAM4_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 4	94	Ig-like V-type.					integral to plasma membrane|membrane fraction		p.A94T(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(3)|skin(3)|urinary_tract(1)	16						CCACTGTATGCGGCCCCTGGG	0.488													T	42132119	C	T	42132119	3	4	692	1	0	0	0	0	1	0	0	0	3224	768	27	1	478	1	CEACAM4	19	42132119	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	2222533	42132119	16996864	87	53816											
CEACAM5	1048	broad.mit.edu	37	chr19	42213889	42213889	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcatccagaatgacacaggaTtctacaccctacacgtcata	14	9	5	13	1	3	2	2	1	1	1	4	3	4	3	2	1	2	0	2	1	4	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr19:42213889T>C	ENST00000221992.6	+	2	469	c.355T>C	c.(355-357)Ttc>Ctc	p.F119L	CEA_ENST00000598976.1_Missense_Mutation_p.F119L|CEACAM5_ENST00000398599.4_Missense_Mutation_p.F119L|CEACAM5_ENST00000405816.1_Missense_Mutation_p.F119L	NM_004363.2	NP_004354.2	P06731	CEAM5_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 5	119	Ig-like 1.					anchored to membrane|basolateral plasma membrane|integral to plasma membrane				breast(1)|endometrium(3)|kidney(5)|large_intestine(4)|lung(10)|ovary(2)|skin(7)|stomach(1)|urinary_tract(1)	34				OV - Ovarian serous cystadenocarcinoma(3;0.00278)|all cancers(3;0.00625)|Epithelial(262;0.0379)|GBM - Glioblastoma multiforme(1328;0.142)		TGACACAGGATTCTACACCCT	0.493													C	42213889	T	C	42213889	3	2	692	1	0	0	0	0	1	0	0	0	3225	1493	52	3	361	3	CEACAM5	19	42213889	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	81770	42213889	16915094	88	53817											
SULF2	55959	broad.mit.edu	37	chr20	46291958	46291958	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcacagaaaggccccacTgccaaggaagagagagcatg	15	2	13	11	0	0	3	0	0	0	3	0	5	0	4	3	3	2	2	3	3	3	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr20:46291958T>C	ENST00000359930.4	-	17	3079		c.e17-2		SULF2_ENST00000361612.4_Splice_Site|SULF2_ENST00000484875.1_Splice_Site|SULF2_ENST00000467815.1_Splice_Site	NM_018837.3	NP_061325.1	Q8IWU5	SULF2_HUMAN	sulfatase 2						bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|endometrium(4)|kidney(1)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	54						AAGGCCCCACTGCCAAGGAAG	0.527											OREG0026005	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	46291958	T	C	46291958	5	2	692	1	0	0	0	0	0	0	1	0	15467	1594	55	3	406	3	SULF2	20	46291958	Splice_Site	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08		46291958	16733562	89	53818											
APP	351	broad.mit.edu	37	chr21	27462309	27462309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gatgggtcttgcactgcttgCggccccgcttgcaccagttc	4	11	12	14	2	1	0	0	0	1	0	2	1	1	0	3	2	4	5	3	2	0	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:27462309C>T	ENST00000358918.3	-	3	504	c.305G>A	c.(304-306)cGc>cAc	p.R102H	APP_ENST00000346798.3_Missense_Mutation_p.R102H|APP_ENST00000448388.2_Missense_Mutation_p.R67H|APP_ENST00000354192.3_Missense_Mutation_p.R46H|APP_ENST00000359726.3_Missense_Mutation_p.R102H|APP_ENST00000357903.3_Missense_Mutation_p.R102H|APP_ENST00000474136.1_5'UTR|APP_ENST00000440126.3_Missense_Mutation_p.R97H|APP_ENST00000439274.2_Missense_Mutation_p.R46H|APP_ENST00000348990.5_Missense_Mutation_p.R102H	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	102	Heparin-binding.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				GCACTGCTTGCGGCCCCGCTT	0.582													T	27462309	C	T	27462309	3	4	692	1	0	0	0	0	1	0	0	0	818	768	27	1	2071	1	APP	21	27462309	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		27462309	20667586	90	53819											
SYNJ1	8867	broad.mit.edu	37	chr21	34053878	34053878	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccattcacggaccacatTgaccgaaaaacttcttgaaa	15	9	5	12	2	3	2	2	2	1	0	3	4	3	3	3	1	1	0	3	1	3	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:34053878T>A	ENST00000382499.2	-	11	1397	c.1398A>T	c.(1396-1398)tcA>tcT	p.S466S	SYNJ1_ENST00000433931.2_Silent_p.S466S|SYNJ1_ENST00000322229.7_Silent_p.S427S|SYNJ1_ENST00000382491.3_Silent_p.S427S|SYNJ1_ENST00000357345.3_Silent_p.S427S	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	427							inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						CGGACCACATTGACCGAAAAA	0.393													A	34053878	T	A	34053878	2	1	692	1	0	0	0	0	0	0	0	1	15549	1799	63	5		5	SYNJ1	21	34053878	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	6591569	34053878	14076017	91	53820											
RUNX1	861	broad.mit.edu	37	chr21	36164874	36164874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcagcgcggggaactggCgcgggtcgctgaacgctgtc	6	5	19	11	6	0	1	0	1	0	0	2	2	0	2	0	5	3	3	0	5	2	0			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chr21:36164874C>T	ENST00000344691.4	-	6	2497	c.920G>A	c.(919-921)cGc>cAc	p.R307H	RUNX1_ENST00000325074.5_Missense_Mutation_p.R322H|RUNX1_ENST00000399240.1_Missense_Mutation_p.R243H|RUNX1_ENST00000300305.3_Missense_Mutation_p.R334H|RUNX1_ENST00000437180.1_Missense_Mutation_p.R334H	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	307	Interaction with MYST3.|Interaction with MYST4 (By similarity).|Pro/Ser/Thr-rich.				myeloid cell differentiation|negative regulation of granulocyte differentiation|positive regulation of angiogenesis|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|calcium ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						GGGGAACTGGCGCGGGTCGCT	0.687			T	"RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"	"AML, preB- ALL, T-ALL"								T	36164874	C	T	36164874	3	4	692	1	0	0	0	0	1	0	0	0	13837	768	27	1	445	1	RUNX1	21	36164874	Missense_Mutation	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	2110996	36164874	11965021	92	53821											
SSX7	280658	broad.mit.edu	37	chrX	52681398	52681398	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggagggtggccttgaagcCtagaaagaagcaaaatgttt	13	9	14	5	0	0	3	0	1	0	2	0	4	0	4	2	3	2	2	2	3	6	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:52681398C>G	ENST00000298181.5	-	4	343		c.e4-1			NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					GCCTTGAAGCCTAGAAAGAAG	0.483													G	52681398	C	G	52681398	5	3	692	1	0	0	0	0	0	0	1	0	15305	695	24	4	398	4	SSX7	23	52681398	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08		52681398	102589162	93	53822											
GNL3L	54552	broad.mit.edu	37	chrX	54581027	54581027	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccggagaatctgatgagctgTtgggtgacacggacccactt	9	9	13	10	2	1	4	0	3	1	1	1	6	1	5	2	3	1	2	2	3	1	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:54581027T>C	ENST00000336470.4	+	14	1487	c.1348T>C	c.(1348-1350)Ttg>Ctg	p.L450L	GNL3L_ENST00000360845.2_Silent_p.L450L	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	450					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						TGATGAGCTGTTGGGTGACAC	0.522													C	54581027	T	C	54581027	2	2	692	1	0	0	0	0	0	0	0	1	6594	1722	60	3		3	GNL3L	23	54581027	Silent	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1899629	54581027	100689533	94	53823											
AR	367	broad.mit.edu	37	chrX	66931475	66931475	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agccttgctctctagcctcaAtgaactgggagagagacagc	11	8	11	11	0	2	3	1	1	1	2	3	5	2	3	2	1	5	1	2	1	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:66931475A>G	ENST00000374690.3	+	4	2641	c.2117A>G	c.(2116-2118)aAt>aGt	p.N706S	AR_ENST00000396044.3_Missense_Mutation_p.N706S|AR_ENST00000396043.2_Missense_Mutation_p.N174S	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	705	Interaction with MYST2.|Ligand-binding.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	TCTAGCCTCAATGAACTGGGA	0.522									Androgen Insensitivity Syndrome				G	66931475	A	G	66931475	3	3	692	1	0	0	0	0	1	0	0	0	839	101	4	3	2155	3	AR	23	66931475	Missense_Mutation	SNP	A	TCGA-S9-A6TS-01A-12D-A33T-08	12350448	66931475	88339085	95	53824											
ATRX	546	broad.mit.edu	37	chrX	76812938	76812938	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacctttggcagcatgggaGtatccctcttcttcttcttt	5	18	7	11	0	4	0	0	0	4	0	5	1	5	1	2	2	2	3	2	2	2	7			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:76812938G>A	ENST00000373344.5	-	30	6897	c.6683C>T	c.(6682-6684)aCt>aTt	p.T2228I	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.T2190I	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2228					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)	CAGCATGGGAGTATCCCTCTT	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76812938	G	A	76812938	3	1	692	1	0	0	0	0	1	0	0	0	1213	1029	36	2	819	2	ATRX	23	76812938	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	9881463	76812938	78457622	96	53825											
ATP7A	538	broad.mit.edu	37	chrX	77254082	77254082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgacaccagttcaagacaagGaggaaggaaagaattcatct	17	7	10	7	0	3	3	2	1	1	2	3	6	3	6	1	3	0	1	1	3	5	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:77254082G>A	ENST00000341514.6	+	5	1599	c.1444G>A	c.(1444-1446)Gag>Aag	p.E482K	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Missense_Mutation_p.E482K	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	482					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						TCAAGACAAGGAGGAAGGAAA	0.428													A	77254082	G	A	77254082	3	1	692	1	0	0	0	0	1	0	0	0	1195	1175	41	2	1458	2	ATP7A	23	77254082	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	441144	77254082	78016478	97	53826											
RGAG1	57529	broad.mit.edu	37	chrX	109694101	109694101	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgggagtaccaaactctggaGcattgtccccacccctaatg	10	9	9	13	0	1	0	0	0	1	0	2	2	2	2	5	2	3	2	5	2	3	3			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:109694101G>C	ENST00000465301.2	+	3	502	c.256G>C	c.(256-258)Gca>Cca	p.A86P	RGAG1_ENST00000540313.1_Missense_Mutation_p.A86P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	86										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAACTCTGGAGCATTGTCCCC	0.542											OREG0019909	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	109694101	G	C	109694101	3	2	692	1	0	0	0	0	1	0	0	0	13362	971	34	4	258	4	RGAG1	23	109694101	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	32440019	109694101	45576459	98	53827											
TRPC5	7224	broad.mit.edu	37	chrX	111097327	111097327	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgttggcagttgggctgaGcaacaaactgggaaaagaag	14	7	14	6	0	0	2	0	1	0	1	0	3	0	3	0	3	3	5	0	3	5	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111097327G>A	ENST00000262839.2	-	4	1826	c.908C>T	c.(907-909)gCt>gTt	p.A303V		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	303					axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity			biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GTTGGGCTGAGCAACAAACTG	0.488													A	111097327	G	A	111097327	3	1	692	1	0	0	0	0	1	0	0	0	16683	971	34	2	2045	2	TRPC5	23	111097327	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1403226	111097327	44173233	99	53828											
LHFPL1	340596	broad.mit.edu	37	chrX	111914414	111914414	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattgaagctggcatagcGcccacattcttccaccatga	10	9	9	13	1	1	2	0	2	1	0	2	2	2	2	3	2	2	3	3	2	2	4			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:111914414G>A	ENST00000371968.3	-	2	444	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	LHFPL1_ENST00000478229.1_Intron|LHFPL1_ENST00000536453.1_Missense_Mutation_p.R69C	NM_178175.3	NP_835469.1	Q86WI0	LHPL1_HUMAN	lipoma HMGIC fusion partner-like 1	69						integral to membrane				breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)	13						CTGGCATAGCGCCCACATTCT	0.592													A	111914414	G	A	111914414	3	1	692	1	0	0	0	0	1	0	0	0	8824	1087	38	1	469	1	LHFPL1	23	111914414	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	817087	111914414	43356146	100	53829											
SLC25A14	9016	broad.mit.edu	37	chrX	129480618	129480618	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatagagggatgttccatgcGctgtttcgcatctgtaaaga	10	13	11	7	2	1	2	0	0	1	2	3	3	2	3	1	1	1	5	1	1	4	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:129480618G>A	ENST00000543953.1	+	3	214	c.165G>A	c.(163-165)gcG>gcA	p.A55A	SLC25A14_ENST00000339231.3_Silent_p.A87A|SLC25A14_ENST00000545805.1_Silent_p.A90A|SLC25A14_ENST00000361980.5_Silent_p.A87A|SLC25A14_ENST00000218197.5_Silent_p.A90A|SLC25A14_ENST00000467496.1_3'UTR			O95258	UCP5_HUMAN	solute carrier family 25 (mitochondrial carrier, brain), member 14	90			E -> A (in dbSNP:rs2143598).		aerobic respiration|mitochondrial transport	integral to plasma membrane|mitochondrial inner membrane	binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(7)|ovary(1)	22						TGTTCCATGCGCTGTTTCGCA	0.423													A	129480618	G	A	129480618	2	1	692	1	0	0	0	0	0	0	0	1	14570	1074	38	1		1	SLC25A14	23	129480618	Silent	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	17566204	129480618	25789942	101	53830											
RAP2C	57826	broad.mit.edu	37	chrX	131351247	131351247	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaactgcacagtaagggcaGatttgccaacccctccactc	12	7	7	15	0	0	1	0	0	0	1	2	1	1	1	4	1	4	3	4	1	3	2			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:131351247G>T	ENST00000342983.2	-	2	796	c.50C>A	c.(49-51)tCt>tAt	p.S17Y	RAP2C-AS1_ENST00000421483.2_RNA|RAP2C_ENST00000370874.1_Missense_Mutation_p.S17Y|RAP2C_ENST00000460462.1_Intron	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	17					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					AGTAAGGGCAGATTTGCCAAC	0.507													T	131351247	G	T	131351247	3	4	692	1	0	0	0	0	1	0	0	0	13130	942	33	4	509	4	RAP2C	23	131351247	Missense_Mutation	SNP	G	TCGA-S9-A6TS-01A-12D-A33T-08	1870629	131351247	23919313	102	53831											
AFF2	2334	broad.mit.edu	37	chrX	148048608	148048608	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagctcacttttgatgacTcgtatgttgttccagattat	9	16	7	9	1	1	3	1	2	0	1	3	3	2	3	2	0	1	4	2	0	3	6			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:148048608T>C	ENST00000370460.2	+	14	3681	c.3202T>C	c.(3202-3204)Tcg>Ccg	p.S1068P	AFF2_ENST00000286437.5_Splice_Site_p.S709P|AFF2_ENST00000342251.3_Splice_Site_p.S1035P|AFF2_ENST00000370457.5_Splice_Site_p.S1033P	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	1068					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					TTTTGATGACTCGTATGTTGT	0.517													C	148048608	T	C	148048608	5	2	692	1	0	0	0	0	0	0	1	0	357	1565	54	3	3311	3	AFF2	23	148048608	Splice_Site	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	16697361	148048608	7221952	103	53832											
MTM1	4534	broad.mit.edu	37	chrX	149828189	149828189	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgaccgttctcctatttTtctccagtttattgattgtg	5	20	7	9	1	2	2	0	2	2	0	4	2	2	2	3	0	1	3	3	0	2	8			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:149828189T>C	ENST00000370396.2	+	12	1367	c.1313T>C	c.(1312-1314)tTt>tCt	p.F438S	MTM1_ENST00000413012.2_Missense_Mutation_p.F401S|MTM1_ENST00000543350.1_Missense_Mutation_p.F323S|MTM1_ENST00000542741.1_Missense_Mutation_p.F343S|MTM1_ENST00000306167.7_3'UTR	NM_000252.2	NP_000243.1	Q13496	MTM1_HUMAN	myotubularin 1	438	Myotubularin phosphatase.				endosome to lysosome transport|intermediate filament organization|mitochondrion distribution|mitochondrion morphogenesis|phosphatidylinositol dephosphorylation|protein transport|regulation of vacuole organization	filopodium|late endosome|plasma membrane|ruffle	intermediate filament binding|phosphatidylinositol binding|phosphatidylinositol-3,5-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein tyrosine phosphatase activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	Acute lymphoblastic leukemia(192;6.56e-05)					TCTCCTATTTTTCTCCAGTTT	0.313													C	149828189	T	C	149828189	3	2	692	1	0	0	0	0	1	0	0	0	10013	1841	64	3	1355	3	MTM1	23	149828189	Missense_Mutation	SNP	T	TCGA-S9-A6TS-01A-12D-A33T-08	1779581	149828189	5442371	104	53833											
GAB3	139716	broad.mit.edu	37	chrX	153940503	153940503	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcttaggacccaacacttaCctttccaggttctcatgttg	9	14	6	12	0	2	0	1	0	2	0	4	1	3	1	3	2	2	2	3	2	3	5			TCGA-S9-A6TS-01A-12D-A33T-08	TCGA-S9-A6TS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	542737ea-d286-472a-b077-6f763a137424	a743148a-1d09-4c80-a096-48eec44e65e8	g.chrX:153940503C>A	ENST00000369575.3	-	4	1098		c.e4+1		GAB3_ENST00000424127.2_Splice_Site|GAB3_ENST00000496390.1_Intron	NM_001081573.1|NM_080612.2	NP_001075042.1|NP_542179.1	Q8WWW8	GAB3_HUMAN	GRB2-associated binding protein 3											NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)	25	all_cancers(53;8.15e-17)|all_epithelial(53;1.1e-10)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAACACTTACCTTTCCAGGT	0.507													A	153940503	C	A	153940503	5	1	692	1	0	0	0	0	0	0	1	0	6202	521	18	4	721	4	GAB3	23	153940503	Splice_Site	SNP	C	TCGA-S9-A6TS-01A-12D-A33T-08	4112314	153940503	1330057	105	53834											
PADI3	51702	broad.mit.edu	37	chr1	17594365	17594365	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtcatggtcctgcggaCgcagggccctgcagccctct	4	9	13	15	2	3	0	1	0	2	0	4	1	4	1	3	3	3	2	3	3	0	0	rs146396025		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:17594365C>T	ENST00000375460.3	+	6	600	c.560C>T	c.(559-561)aCg>aTg	p.T187M		NM_016233.2	NP_057317.2	Q9ULW8	PADI3_HUMAN	peptidyl arginine deiminase, type III	187					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|liver(2)|lung(10)|ovary(2)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00488)|BRCA - Breast invasive adenocarcinoma(304;1.17e-05)|COAD - Colon adenocarcinoma(227;1.18e-05)|Kidney(64;0.000186)|KIRC - Kidney renal clear cell carcinoma(64;0.00272)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0655)|Lung(427;0.189)	L-Citrulline(DB00155)	GTCCTGCGGACGCAGGGCCCT	0.577													T	17594365	C	T	17594365	3	4	693	1	0	0	0	0	1	0	0	0	11455	536	19	1	582	1	PADI3	1	17594365	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		17594365	231656256	1	53835											
MAEL	84944	broad.mit.edu	37	chr1	166987180	166987180	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccaaaatggttgtattggAtgcagggcgttaccaggtaa	12	10	12	7	1	0	0	0	0	0	0	0	1	0	1	2	4	2	5	2	4	5	5			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:166987180A>T	ENST00000367872.4	+	10	1269	c.1025A>T	c.(1024-1026)gAt>gTt	p.D342V	MAEL_ENST00000367870.2_Missense_Mutation_p.D311V|MAEL_ENST00000491055.1_3'UTR	NM_032858.1	NP_116247.1	Q96JY0	MAEL_HUMAN	maelstrom spermatogenic transposon silencer	342					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|multicellular organismal development|piRNA metabolic process|spermatogenesis	piP-body	DNA binding			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(12)|skin(4)	28						GTTGTATTGGATGCAGGGCGT	0.458													T	166987180	A	T	166987180	3	4	693	1	0	0	0	0	1	0	0	0	9225	333	12	5	1063	5	MAEL	1	166987180	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08	149392815	166987180	82263441	2	53836											
OR11L1	391189	broad.mit.edu	37	chr1	248004293	248004293	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttccttctcatgaccttTctaacagcttctttgaagtc	8	17	4	12	0	3	2	1	2	3	0	6	2	4	2	2	0	2	1	2	0	2	6			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr1:248004293T>C	ENST00000355784.2	-	1	961	c.906A>G	c.(904-906)agA>agG	p.R302R		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			TCATGACCTTTCTAACAGCTT	0.373													C	248004293	T	C	248004293	2	2	693	1	0	0	0	0	0	0	0	1	11006	1780	62	3		3	OR11L1	1	248004293	Silent	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08	81017113	248004293	1246328	3	53837											
MFSD2B	388931	broad.mit.edu	37	chr2	24240178	24240178	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccaggtgccctacacagCgctcaccatgctgctgactc	7	9	8	17	1	1	1	1	1	0	0	3	1	2	1	3	1	5	3	3	1	1	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:24240178C>T	ENST00000338315.4	+	5	494	c.494C>T	c.(493-495)gCg>gTg	p.A165V	MFSD2B_ENST00000406420.3_Missense_Mutation_p.A165V			A6NFX1	MFS2B_HUMAN	major facilitator superfamily domain containing 2B	165					transport	integral to membrane				cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						CCCTACACAGCGCTCACCATG	0.667													T	24240178	C	T	24240178	3	4	693	1	0	0	0	0	1	0	0	0	9606	768	27	1	512	1	MFSD2B	2	24240178	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		24240178	218959195	4	53838											
LRP1B	53353	broad.mit.edu	37	chr2	141986794	141986794	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gattgtccattcatctgttaAtcctcctgcttttgttatct	6	20	5	10	0	3	0	1	0	2	0	6	1	6	0	3	0	1	3	3	0	2	6			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:141986794A>G	ENST00000389484.3	-	6	1779	c.808T>C	c.(808-810)Tta>Cta	p.L270L		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	270					protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TCATCTGTTAATCCTCCTGCT	0.313										TSP Lung(27;0.18)			G	141986794	A	G	141986794	2	3	693	1	0	0	0	0	0	0	0	1	9025	98	4	3		3	LRP1B	2	141986794	Silent	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08	117746616	141986794	101212579	5	53839											
TTN	7273	broad.mit.edu	37	chr2	179466815	179466815	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagcaggaatcctaatctGtgagccagctttacaaacca	14	8	8	11	0	1	1	0	1	1	0	2	3	2	2	3	1	5	2	3	1	4	3			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:179466815G>A	ENST00000589042.1	-	284	55407	c.55183C>T	c.(55183-55185)Cag>Tag	p.Q18395*	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.Q16754*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Q9330*|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.Q9522*|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.Q15827*|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Q9455*|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	16754	Fibronectin type-III 33.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTAATCTGTGAGCCAGCT	0.413													A	179466815	G	A	179466815	4	1	693	1	0	0	0	0	0	1	0	0	16837	1386	48	2	52826	2	TTN	2	179466815	Nonsense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08	37480021	179466815	63732558	6	53840											
ITGA4	3676	broad.mit.edu	37	chr2	182359504	182359504	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tatgtttggacagtctatatCaggacaaattgatgcagata	14	13	9	5	0	2	2	1	1	1	1	2	4	2	4	0	2	1	2	0	2	5	6			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:182359504C>G	ENST00000397033.2	+	12	1734	c.1304C>G	c.(1303-1305)tCa>tGa	p.S435*		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	435					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	CAGTCTATATCAGGACAAATT	0.308													G	182359504	C	G	182359504	4	3	693	1	0	0	0	0	0	1	0	0	7936	838	29	4	1350	4	ITGA4	2	182359504	Nonsense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	2892689	182359504	60839869	7	53841											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	693	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	26753608	209113112	34086261	8	53842											
AFF4	27125	broad.mit.edu	37	chr5	132270106	132270106	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggagaatcccagtttgcAtcagggtcccgaggtgattt	10	10	13	8	1	1	2	1	1	0	1	3	5	3	2	2	3	1	2	2	3	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr5:132270106A>C	ENST00000265343.5	-	3	1030	c.651T>G	c.(649-651)gaT>gaG	p.D217E	AFF4_ENST00000491831.1_5'UTR|AFF4_ENST00000378595.3_Missense_Mutation_p.D217E	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	217	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CCCAGTTTGCATCAGGGTCCC	0.463													C	132270106	A	C	132270106	3	2	693	1	0	0	0	0	1	0	0	0	359	214	8	5	2916	5	AFF4	5	132270106	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		132270106	48645154	9	53843											
SLC25A27	9481	broad.mit.edu	37	chr6	46637948	46637948	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaataatgaatcaaccaCgagataaacaaggaaggtag	20	5	10	6	1	1	3	1	1	0	2	1	5	1	4	1	2	2	2	1	2	9	3			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr6:46637948C>A	ENST00000371347.5	+	7	1033	c.781C>A	c.(781-783)Cga>Aga	p.R261R	SLC25A27_ENST00000411689.2_Intron|SLC25A27_ENST00000452689.2_Silent_p.R175R	NM_001204051.1|NM_004277.4	NP_001190980.1|NP_004268.3	O95847	UCP4_HUMAN	solute carrier family 25, member 27	261					generation of precursor metabolites and energy|transport	integral to membrane|mitochondrial inner membrane				central_nervous_system(1)|kidney(1)|lung(4)|prostate(1)|urinary_tract(1)	8			Lung(136;0.192)			GAATCAACCACGAGATAAACA	0.328													A	46637948	C	A	46637948	2	1	693	1	0	0	0	0	0	0	0	1	14584	528	19	4		4	SLC25A27	6	46637948	Silent	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		46637948	124477119	10	53844											
UBN2	254048	broad.mit.edu	37	chr7	138946218	138946218	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccggacttaaatctgagcAgcggtgatccagaccttccc	9	9	9	14	2	1	3	0	2	1	1	4	4	4	4	4	2	2	1	4	2	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:138946218A>T	ENST00000473989.3	+	6	1126	c.1126A>T	c.(1126-1128)Agc>Tgc	p.S376C	UBN2_ENST00000288561.8_Missense_Mutation_p.S293C	NM_173569.3	NP_775840.3	Q6ZU65	UBN2_HUMAN	ubinuclein 2											NS(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(7)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	42						AAATCTGAGCAGCGGTGATCC	0.478													T	138946218	A	T	138946218	3	4	693	1	0	0	0	0	1	0	0	0	16995	188	7	5	1148	5	UBN2	7	138946218	Missense_Mutation	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		138946218	20192445	11	53845											
PDIA4	9601	broad.mit.edu	37	chr7	148701035	148701035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gatggtggggaagccctccaCcttatagcggtcgctgggga	7	8	16	10	2	0	0	0	0	0	0	2	3	1	2	3	6	2	1	3	6	3	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr7:148701035C>T	ENST00000286091.4	-	10	2021	c.1789G>A	c.(1789-1791)Gtg>Atg	p.V597M		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	597	Thioredoxin 3.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AAGCCCTCCACCTTATAGCGG	0.552													T	148701035	C	T	148701035	3	4	693	1	0	0	0	0	1	0	0	0	11746	507	18	2	152	2	PDIA4	7	148701035	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	9754817	148701035	10437628	12	53846											
GDF6	392255	broad.mit.edu	37	chr8	97157052	97157052	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcgcgataatccagtcGtcccagcccagctccttgaa	9	7	11	14	3	0	1	0	1	0	0	4	2	3	1	4	2	2	1	4	2	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr8:97157052G>A	ENST00000287020.5	-	2	1206	c.1107C>T	c.(1105-1107)gaC>gaT	p.D369D		NM_001001557.2	NP_001001557.1	Q6KF10	GDF6_HUMAN	growth differentiation factor 6	369					activin receptor signaling pathway|BMP signaling pathway|growth|pathway-restricted SMAD protein phosphorylation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(5)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	27	Breast(36;2.67e-05)					TAATCCAGTCGTCCCAGCCCA	0.637													A	97157052	G	A	97157052	2	1	693	1	0	0	0	0	0	0	0	1	6373	1136	40	1		1	GDF6	8	97157052	Silent	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		97157052	49206970	13	53847											
PARD3	56288	broad.mit.edu	37	chr10	34558691	34558691	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctagcgttgagagccaTggaaccttcataagaagaaa	15	8	11	7	1	2	3	1	1	1	3	2	5	2	4	2	2	3	1	2	2	5	4			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr10:34558691T>C	ENST00000374789.3	-	22	3647	c.3322A>G	c.(3322-3324)Atg>Gtg	p.M1108V	PARD3_ENST00000374790.3_Missense_Mutation_p.M1048V|PARD3_ENST00000374794.3_Missense_Mutation_p.M996V|PARD3_ENST00000545693.1_Missense_Mutation_p.M1092V|PARD3_ENST00000374788.3_Missense_Mutation_p.M1105V|PARD3_ENST00000545260.1_Missense_Mutation_p.M1018V|PARD3_ENST00000350537.4_Missense_Mutation_p.M1062V|PARD3_ENST00000346874.4_Missense_Mutation_p.M1071V	NM_019619.3	NP_062565.2	Q8TEW0	PARD3_HUMAN	par-3 family cell polarity regulator	1108					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|asymmetric cell division|axonogenesis|cell cycle|establishment of epithelial cell polarity|protein complex assembly|protein targeting to membrane|tight junction assembly	cell cortex|cytoskeleton|cytosol|endomembrane system|tight junction	phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3-phosphate binding|phosphatidylinositol-4,5-bisphosphate binding|protein binding			NS(2)|breast(4)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	63		Breast(68;0.0707)				TTGAGAGCCATGGAACCTTCA	0.473													C	34558691	T	C	34558691	3	2	693	1	0	0	0	0	1	0	0	0	11519	1464	51	3	764	3	PARD3	10	34558691	Missense_Mutation	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08		34558691	100976056	14	53848											
COMMD9	29099	broad.mit.edu	37	chr11	36302379	36302379	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgtctgacaacatctttCgaggaggcctatgaattaaa	13	11	9	8	1	2	2	0	2	2	0	3	4	2	3	1	2	2	1	1	2	5	3			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr11:36302379C>T	ENST00000263401.5	-	2	76	c.60G>A	c.(58-60)tcG>tcA	p.S20S	COMMD9_ENST00000532705.1_Silent_p.S20S|COMMD9_ENST00000452374.2_Intron	NM_014186.3	NP_054905.2	Q9P000	COMD9_HUMAN	COMM domain containing 9	20										kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	5	all_lung(20;0.211)	all_hematologic(20;0.107)				CAACATCTTTCGAGGAGGCCT	0.383													T	36302379	C	T	36302379	2	4	693	1	0	0	0	0	0	0	0	1	3754	871	31	1		1	COMMD9	11	36302379	Silent	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		36302379	98704137	15	53849											
STAT2	6773	broad.mit.edu	37	chr12	56743287	56743287	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttcctctgtcacacctaGtggcccctgggacagccaaa	9	8	9	15	0	2	0	1	0	1	0	3	1	3	1	5	2	1	1	5	2	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr12:56743287G>C	ENST00000314128.4	-	15	1287	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	STAT2_ENST00000418572.2_Missense_Mutation_p.L418V|STAT2_ENST00000556539.1_5'UTR|STAT2_ENST00000557235.1_Missense_Mutation_p.L418V			P52630	STAT2_HUMAN	signal transducer and activator of transcription 2, 113kDa	422					interspecies interaction between organisms|JAK-STAT cascade|regulation of transcription from RNA polymerase II promoter|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	cytosol|nucleoplasm|plasma membrane	calcium ion binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			NS(1)|endometrium(2)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|skin(3)	31						GTCACACCTAGTGGCCCCTGG	0.527													C	56743287	G	C	56743287	3	2	693	1	0	0	0	0	1	0	0	0	15361	1020	36	4	1331	4	STAT2	12	56743287	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		56743287	77108608	16	53850											
MOAP1	64112	broad.mit.edu	37	chr14	93650096	93650096	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcccgagaacactctcagCtttttatacttcaagcattg	10	13	6	12	1	2	1	2	0	1	1	3	2	2	1	1	0	5	2	1	0	4	6			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:93650096C>G	ENST00000556883.1	-	2	976	c.492G>C	c.(490-492)aaG>aaC	p.K164N	MOAP1_ENST00000298894.4_Missense_Mutation_p.K164N			Q96BY2	MOAP1_HUMAN	modulator of apoptosis 1	164					activation of caspase activity|apoptotic nuclear change	cytoplasm	protein homodimerization activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(1)|skin(2)	13		all_cancers(154;0.00528)|Acute lymphoblastic leukemia(33;0.0497)|all_epithelial(191;0.125)|all_neural(303;0.13)		Epithelial(152;0.178)|all cancers(159;0.2)|COAD - Colon adenocarcinoma(157;0.204)		acactctcagctttttatact	0.517													G	93650096	C	G	93650096	3	3	693	1	0	0	0	0	1	0	0	0	9756	796	28	4	567	4	MOAP1	14	93650096	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		93650096	13699444	17	53851											
BCL11B	64919	broad.mit.edu	37	chr14	99641152	99641152	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggggctgggcagcggcGcgggcttgcgcgggaagagc	4	3	22	12	6	0	1	0	0	0	1	0	2	0	2	1	6	3	3	1	6	1	1			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:99641152G>A	ENST00000345514.2	-	3	2074	c.1808C>T	c.(1807-1809)gCg>gTg	p.A603V	BCL11B_ENST00000357195.3_Missense_Mutation_p.A674V|BCL11B_ENST00000443726.2_Missense_Mutation_p.A480V	NM_001282238.1|NM_022898.1	NP_001269167.1|NP_075049.1	Q9C0K0	BC11B_HUMAN	B-cell CLL/lymphoma 11B (zinc finger protein)	674	Gly-rich.					nucleus	zinc ion binding			NS(3)|breast(1)|central_nervous_system(9)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(9)|prostate(2)|skin(2)	34		Melanoma(154;0.0866)|all_epithelial(191;0.241)		COAD - Colon adenocarcinoma(157;0.103)		GGGCAGCGGCGCGGGCTTGCG	0.776			T	TLX3	T-ALL								A	99641152	G	A	99641152	3	1	693	1	0	0	0	0	1	0	0	0	1369	1087	38	1	667	1	BCL11B	14	99641152	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08	5991056	99641152	7708388	18	53852											
CDC42BPB	9578	broad.mit.edu	37	chr14	103465909	103465909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagccggttacctgtgcaCgtaatgaagctgatggatgg	11	9	14	7	2	0	3	0	2	0	1	0	4	0	4	2	3	4	4	2	3	4	2	rs147856179	by1000genomes	TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr14:103465909C>T	ENST00000361246.2	-	5	877	c.589G>A	c.(589-591)Gtg>Atg	p.V197M		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	197	Protein kinase.				actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		TACCTGTGCACGTAATGAAGC	0.463													T	103465909	C	T	103465909	3	4	693	1	0	0	0	0	1	0	0	0	3103	536	19	1	4678	1	CDC42BPB	14	103465909	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	3824757	103465909	3883631	19	53853											
SCNN1B	6338	broad.mit.edu	37	chr16	23383131	23383131	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggggagccctacagccCgtgcaccgtgaatggttctg	7	8	14	12	2	1	1	0	1	1	0	1	2	1	2	3	3	4	2	3	3	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:23383131C>T	ENST00000343070.2	+	7	1255	c.1079C>T	c.(1078-1080)cCg>cTg	p.P360L	SCNN1B_ENST00000307331.5_Missense_Mutation_p.P405L|SCNN1B_ENST00000568085.1_Intron|SCNN1B_ENST00000568923.1_Missense_Mutation_p.P333L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	360					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCTACAGCCCGTGCACCGTG	0.587													T	23383131	C	T	23383131	3	4	693	1	0	0	0	0	1	0	0	0	14021	652	23	1	1101	1	SCNN1B	16	23383131	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08		23383131	66971622	20	53854											
SRCAP	10847	broad.mit.edu	37	chr16	30735046	30735046	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctctacagtctcagttcCattgtcatcttcactcccca	7	14	4	16	0	5	0	3	0	3	0	9	0	8	0	4	0	1	1	4	0	1	4			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr16:30735046C>T	ENST00000262518.4	+	25	4686	c.4301C>T	c.(4300-4302)cCa>cTa	p.P1434L	SRCAP_ENST00000344771.4_Missense_Mutation_p.P1276L|SRCAP_ENST00000395059.2_Missense_Mutation_p.P1372L	NM_006662.2	NP_006653.2	Q6ZRS2	SRCAP_HUMAN	Snf2-related CREBBP activator protein	1434	Pro-rich.				interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|nucleus|protein complex	ATP binding|DNA binding|helicase activity|histone acetyltransferase activity|transcription coactivator activity			NS(1)|breast(3)|cervix(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(22)|liver(3)|lung(62)|ovary(6)|pancreas(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(5)	136			Colorectal(24;0.198)			GTCTCAGTTCCATTGTCATCT	0.582													T	30735046	C	T	30735046	3	4	693	1	0	0	0	0	1	0	0	0	15231	594	21	2	4391	2	SRCAP	16	30735046	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	7351915	30735046	59619707	21	53855											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	693	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-S9-A6TU-01A-12D-A32B-08		7578190	73617020	22	53856											
GRB7	2886	broad.mit.edu	37	chr17	37902419	37902419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctttgtcctctctttgtgCcacctgcagaaagtgaagca	8	12	10	11	0	1	2	0	1	1	1	3	2	2	2	3	1	3	3	3	1	2	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:37902419C>T	ENST00000309185.3	+	13	1578	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V|GRB7_ENST00000309156.4_Silent_p.C472C			Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	0	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.C472C(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)			TCTCTTTGTGCCACCTGCAGA	0.587													T	37902419	C	T	37902419	3	4	693	1	0	0	0	0	1	0	0	0	6814	747	26	2	1466	2	GRB7	17	37902419	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	30324229	37902419	43292791	23	53857											
HOXB3	3213	broad.mit.edu	37	chr17	46629478	46629478	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggtgagggtggagttggtgCcgggaccgcactttggggga	5	9	21	6	2	0	1	0	1	0	0	0	4	0	4	2	7	1	2	2	7	0	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr17:46629478C>A	ENST00000470495.1	-	1	1806	c.359G>T	c.(358-360)gGc>gTc	p.G120V	HOXB3_ENST00000485909.2_Intron|HOXB3_ENST00000476342.1_Missense_Mutation_p.G120V|HOXB3_ENST00000489475.1_Missense_Mutation_p.G47V|HOXB3_ENST00000311626.4_Missense_Mutation_p.G120V|HOXB3_ENST00000472863.1_Missense_Mutation_p.G47V|HOXB3_ENST00000490677.1_Intron|HOXB3_ENST00000498678.1_Missense_Mutation_p.G120V|HOXB3_ENST00000460160.1_Intron|HOXB-AS3_ENST00000465846.2_RNA			P14651	HXB3_HUMAN	homeobox B3	120					angiogenesis	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(16)|prostate(4)|upper_aerodigestive_tract(1)	30						GGAGTTGGTGCCGGGACCGCA	0.597													A	46629478	C	A	46629478	3	1	693	1	0	0	0	0	1	0	0	0	7357	739	26	4	944	4	HOXB3	17	46629478	Missense_Mutation	SNP	C	TCGA-S9-A6TU-01A-12D-A32B-08	8727059	46629478	34565732	24	53858											
CEP192	55125	broad.mit.edu	37	chr18	13114159	13114159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaaatgagcctgaaaacGcatgcctttccacggattcc	13	8	8	12	2	0	3	0	2	0	1	2	4	2	4	4	1	3	1	4	1	4	2			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr18:13114159G>A	ENST00000506447.1	+	42	7278	c.7198G>A	c.(7198-7200)Gca>Aca	p.A2400T	CEP192_ENST00000325971.8_Missense_Mutation_p.A1804T|CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_Missense_Mutation_p.A1925T	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1995										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						GCCTGAAAACGCATGCCTTTC	0.388													A	13114159	G	A	13114159	3	1	693	1	0	0	0	0	1	0	0	0	3281	1087	38	1	7360	1	CEP192	18	13114159	Missense_Mutation	SNP	G	TCGA-S9-A6TU-01A-12D-A32B-08		13114159	64963089	25	53859											
USP25	29761	broad.mit.edu	37	chr21	17199374	17199374	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgccatttcatcgagAtcagtaatacacaaaccatt	13	12	6	10	1	2	1	2	0	0	1	3	2	2	1	2	0	4	3	2	0	3	5			TCGA-S9-A6TU-01A-12D-A32B-08	TCGA-S9-A6TU-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d474edd0-517b-42c3-bc4a-25ed1a5ab460	1cf5eb20-7436-43b2-99c7-321917c0c0b6	g.chr21:17199374A>G	ENST00000285681.2	+	14	1914	c.1545A>G	c.(1543-1545)agA>agG	p.R515R	USP25_ENST00000400183.2_Silent_p.R515R|USP25_ENST00000285679.6_Silent_p.R515R|USP25_ENST00000351097.5_Intron	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	515					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTTCATCGAGATCAGTAATAC	0.468													G	17199374	A	G	17199374	2	3	693	1	0	0	0	0	0	0	0	1	17158	330	12	3		3	USP25	21	17199374	Silent	SNP	A	TCGA-S9-A6TU-01A-12D-A32B-08		17199374	30930521	26	53860											
SPRR2D	6703	broad.mit.edu	37	chr1	153012733	153012733	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcagggctcagggcacttCgggggtggacatggctctgg	5	7	20	9	1	2	0	1	0	1	0	3	1	2	1	0	8	0	4	0	8	0	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153012733C>T	ENST00000368757.1	-	2	370	c.90G>A	c.(88-90)ccG>ccA	p.P30P	SPRR2D_ENST00000368758.3_Silent_p.P30P|SPRR2D_ENST00000368756.1_Silent_p.P30P|SPRR2D_ENST00000360379.3_Silent_p.P30P			P22532	SPR2D_HUMAN	small proline-rich protein 2D	30	3 X 9 AA tandem repeats of P-K-C-P-[EQ]- P-C-P-[PS].				keratinization	cornified envelope|cytoplasm				endometrium(1)|skin(1)	2	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CAGGGCACTTCGGGGGTGGAC	0.617													T	153012733	C	T	153012733	2	4	694	1	0	0	0	0	0	0	0	1	15195	871	31	1		1	SPRR2D	1	153012733	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		153012733	96237888	1	53861											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													T	153907309	C	T	153907309	2	4	694	1	0	0	0	0	0	0	0	1	4473	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	894576	153907309	95343312	2	53862											
RYR2	6262	broad.mit.edu	37	chr1	237777667	237777667	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgatgagaacaaaaaacacGgccttccagggatcggcctc	13	6	10	12	2	0	2	0	2	0	1	3	4	1	3	3	3	2	0	3	3	4	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr1:237777667G>A	ENST00000366574.2	+	37	5556	c.5239G>A	c.(5239-5241)Ggc>Agc	p.G1747S	RYR2_ENST00000360064.6_Missense_Mutation_p.G1745S|RYR2_ENST00000542537.1_Missense_Mutation_p.G1731S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1747	4 X approximate repeats.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CAAAAAACACGGCCTTCCAGG	0.517													A	237777667	G	A	237777667	3	1	694	1	0	0	0	0	1	0	0	0	13860	1116	39	1	5385	1	RYR2	1	237777667	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	83870358	237777667	11472954	3	53863											
CNNM3	26505	broad.mit.edu	37	chr2	97492662	97492662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaaggtgtctgatgatgaaTataaagtaacaatctcgcct	14	12	8	7	1	3	3	1	3	2	0	4	3	3	3	1	1	1	1	1	1	7	3			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:97492662T>C	ENST00000305510.3	+	3	1490	c.1462T>C	c.(1462-1464)Tat>Cat	p.Y488H	ANKRD23_ENST00000476975.1_Intron|CNNM3_ENST00000377060.3_Missense_Mutation_p.Y440H	NM_017623.4	NP_060093.3	Q8NE01	CNNM3_HUMAN	cyclin M3	488					ion transport	integral to membrane|plasma membrane	protein binding			NS(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)|skin(1)|urinary_tract(2)	13						TGATGATGAATATAAAGTAAC	0.567													C	97492662	T	C	97492662	3	2	694	1	0	0	0	0	1	0	0	0	3645	1406	49	3	1472	3	CNNM3	2	97492662	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		97492662	145706711	4	53864											
POTEE	445582	broad.mit.edu	37	chr2	132021797	132021797	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgctatgttgccctggacttCgagcaggagatggccacggc	7	9	14	11	2	0	1	0	0	0	1	1	4	0	2	2	4	3	3	2	4	1	3			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:132021797C>T	ENST00000356920.5	+	15	2863	c.2769C>T	c.(2767-2769)ttC>ttT	p.F923F	PLEKHB2_ENST00000404460.1_Intron|PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_3'UTR	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	923	Actin-like.						ATP binding										CCCTGGACTTCGAGCAGGAGA	0.597													T	132021797	C	T	132021797	2	4	694	1	0	0	0	0	0	0	0	1	12341	883	31	1		1	POTEE	2	132021797	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	34529135	132021797	111177576	5	53865											
CCDC148	130940	broad.mit.edu	37	chr2	159166120	159166120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttgctgctctatagcaaagCgatattggtcacaatatttc	11	15	7	8	1	2	0	1	0	1	0	3	1	2	0	0	1	4	3	0	1	6	7			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:159166120C>T	ENST00000283233.5	-	9	1248	c.935G>A	c.(934-936)cGc>cAc	p.R312H	CCDC148_ENST00000409187.1_Missense_Mutation_p.R321H|CCDC148_ENST00000536771.1_Missense_Mutation_p.R226H	NM_138803.3	NP_620158.3	Q8NFR7	CC148_HUMAN	coiled-coil domain containing 148	312										endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	23						TATAGCAAAGCGATATTGGTC	0.348													T	159166120	C	T	159166120	3	4	694	1	0	0	0	0	1	0	0	0	2808	768	27	1	916	1	CCDC148	2	159166120	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	27144323	159166120	84033253	6	53866											
ANKRD44	91526	broad.mit.edu	37	chr2	198051803	198051803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggatctcctctggatcacCgctgaagattgcctgaacca	9	9	9	14	2	3	3	1	2	2	1	4	5	3	5	5	2	2	1	5	2	2	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr2:198051803C>T	ENST00000282272.8	-	1	30	c.31G>A	c.(31-33)Ggt>Agt	p.G11S	ANKRD44_ENST00000450567.1_5'UTR|ANKRD44_ENST00000539527.1_5'UTR|ANKRD44_ENST00000328737.2_5'UTR|ANKRD44_ENST00000409919.1_Missense_Mutation_p.G19S|ANKRD44_ENST00000409153.1_Missense_Mutation_p.G19S	NM_001195144.1	NP_001182073.1	Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	19							protein binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TCTGGATCACCGCTGAAGATT	0.443													T	198051803	C	T	198051803	3	4	694	1	0	0	0	0	1	0	0	0	672	667	23	1		1	ANKRD44	2	198051803	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	38885683	198051803	45147570	7	53867											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	694	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	11061309	209113112	34086261	8	53868											
PLXNB1	5364	broad.mit.edu	37	chr3	48445969	48445969	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagctgcatcttctgggccGtgccatcctcctccagggca	5	9	10	17	1	2	0	0	0	2	0	5	0	5	0	6	2	3	3	6	2	0	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:48445969G>A	ENST00000358536.4	-	38	6601	c.6332C>T	c.(6331-6333)aCg>aTg	p.T2111M	PLXNB1_ENST00000358459.4_Missense_Mutation_p.T1928M|PLXNB1_ENST00000448774.2_Missense_Mutation_p.T722M|PLXNB1_ENST00000456774.1_Missense_Mutation_p.T1928M|PLXNB1_ENST00000296440.6_Missense_Mutation_p.T2111M	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	2111					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTTCTGGGCCGTGCCATCCTC	0.547													A	48445969	G	A	48445969	3	1	694	1	0	0	0	0	1	0	0	0	12200	1145	40	1	79	1	PLXNB1	3	48445969	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		48445969	149576461	9	53869											
IL17RD	54756	broad.mit.edu	37	chr3	57144240	57144240	+	Frame_Shift_Del	DEL	T	T	-																															cagttcttttgaagctactgTtgagctgcttcggatccttt																										TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr3:57144240delT	ENST00000296318.7	-	4	498	c.410delA	c.(409-411)aacfs	p.N137fs	IL17RD_ENST00000463523.1_5'UTR|IL17RD_ENST00000427856.2_Frame_Shift_Del_p.N113fs|IL17RD_ENST00000320057.5_5'UTR	NM_017563.3	NP_060033.3	Q8NFM7	I17RD_HUMAN	interleukin 17 receptor D	137						Golgi membrane|integral to membrane|plasma membrane	receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(1)|ovary(1)|pancreas(1)	16				KIRC - Kidney renal clear cell carcinoma(284;0.0173)|Kidney(284;0.0204)		GAAGCTACTGTTGAGCTGCTT	0.463													-	57144240	T	-	57144240	7	5	694	1	0	1	0	1	0	0	0	0	7700	1725	60	0	1849	0	IL17RD	3	57144240	Frame_Shift_Del	DEL	T	TCGA-S9-A6TV-01A-12D-A34J-08	8698271	57144240	140878190	10	53870											
HS3ST1	9957	broad.mit.edu	37	chr4	11401181	11401181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtcagatagcacgcgctccGacgggtctcgcaggatgagc	9	6	14	12	5	2	2	1	1	1	1	4	4	3	3	1	2	2	3	1	2	1	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:11401181G>A	ENST00000002596.5	-	2	1623	c.449C>T	c.(448-450)tCg>tTg	p.S150L		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	150						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						CACGCGCTCCGACGGGTCTCG	0.597													A	11401181	G	A	11401181	3	1	694	1	0	0	0	0	1	0	0	0	7418	1059	37	1	478	1	HS3ST1	4	11401181	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		11401181	179753095	11	53871											
AADAT	51166	broad.mit.edu	37	chr4	170990336	170990336	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaaagagtcagctctgaTgacacgtccatcaacatcca	15	8	7	11	1	3	4	2	3	1	1	5	4	5	4	2	0	2	1	2	0	3	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr4:170990336T>A	ENST00000337664.4	-	7	1042	c.766A>T	c.(766-768)Atc>Ttc	p.I256F	AADAT_ENST00000515480.1_Missense_Mutation_p.I256F|AADAT_ENST00000509167.1_Missense_Mutation_p.I260F|AADAT_ENST00000353187.2_Missense_Mutation_p.I256F	NM_016228.3	NP_057312.1	Q8N5Z0	AADAT_HUMAN	aminoadipate aminotransferase	256					2-oxoglutarate metabolic process|biosynthetic process|glutamate metabolic process|lysine catabolic process	mitochondrial matrix	2-aminoadipate transaminase activity|kynurenine-oxoglutarate transaminase activity|protein homodimerization activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|pancreas(1)|stomach(1)	11		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0355)|LUSC - Lung squamous cell carcinoma(193;0.118)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)	TCAGCTCTGATGACACGTCCA	0.388													A	170990336	T	A	170990336	3	1	694	1	0	0	0	0	1	0	0	0	14	1464	51	5	539	5	AADAT	4	170990336	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	159589155	170990336	20163940	12	53872											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	5	10	13	13	0	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2	rs139769264		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													T	32407029	A	T	32407029	2	4	694	1	0	0	0	0	0	0	0	1	17760	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-S9-A6TV-01A-12D-A34J-08		32407029	148508231	13	53873											
PDE4D	5144	broad.mit.edu	37	chr5	58272256	58272256	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcaaccatagtcttcaaaTcagccagtagattcatgtgt	12	14	6	9	0	5	1	4	0	1	1	5	1	5	1	2	0	2	1	2	0	4	5			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr5:58272256T>C	ENST00000340635.6	-	13	1926	c.1751A>G	c.(1750-1752)gAt>gGt	p.D584G	PDE4D_ENST00000317118.8_Missense_Mutation_p.D293G|PDE4D_ENST00000502484.2_Missense_Mutation_p.D523G|PDE4D_ENST00000405755.2_Missense_Mutation_p.D462G|PDE4D_ENST00000360047.5_Missense_Mutation_p.D448G|PDE4D_ENST00000503258.1_Missense_Mutation_p.D454G|PDE4D_ENST00000546160.1_Missense_Mutation_p.D523G|PDE4D_ENST00000507116.1_Missense_Mutation_p.D520G|PDE4D_ENST00000358923.6_Missense_Mutation_p.D282G	NM_001104631.1	NP_001098101.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	584					signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AGTCTTCAAATCAGCCAGTAG	0.323													C	58272256	T	C	58272256	3	2	694	1	0	0	0	0	1	0	0	0	11718	1435	50	3	690	3	PDE4D	5	58272256	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	25865227	58272256	122643004	14	53874											
KCNK16	83795	broad.mit.edu	37	chr6	39284602	39284602	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggtgctgagagtgatgaaaGcaaagtagaagccctcgctg	12	8	14	7	1	0	4	0	3	0	2	1	5	0	4	1	1	3	4	1	1	4	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr6:39284602G>A	ENST00000425054.2	-	4	616	c.617C>T	c.(616-618)gCt>gTt	p.A206V	KCNK16_ENST00000373227.4_Missense_Mutation_p.A206V|KCNK16_ENST00000437525.2_Missense_Mutation_p.A206V|KCNK16_ENST00000373229.5_Missense_Mutation_p.A206V|KCNK16_ENST00000507712.1_Missense_Mutation_p.A141V	NM_001135105.1	NP_001128577.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	206				FAF -> LLS (in Ref. 2; AAP82867).		integral to membrane	potassium channel activity|voltage-gated ion channel activity			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						AGTGATGAAAGCAAAGTAGAA	0.542													A	39284602	G	A	39284602	3	1	694	1	0	0	0	0	1	0	0	0	8121	971	34	2	709	2	KCNK16	6	39284602	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		39284602	131830465	15	53875											
WNT16	51384	broad.mit.edu	37	chr7	120979236	120979236	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acaaggcagagaatgcaaccGtacatcagagggtgcagatg	15	5	13	8	1	1	3	1	0	0	3	1	4	1	3	1	2	4	4	1	2	4	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:120979236G>A	ENST00000222462.2	+	4	1225	c.935G>A	c.(934-936)cGt>cAt	p.R312H	WNT16_ENST00000361301.2_Missense_Mutation_p.R302H	NM_057168.1	NP_476509.1	Q9UBV4	WNT16_HUMAN	wingless-type MMTV integration site family, member 16	312					anterior/posterior pattern formation|axis specification|axonogenesis|canonical Wnt receptor signaling pathway|keratinocyte differentiation|keratinocyte proliferation|negative regulation of cell death|optic cup formation involved in camera-type eye development|oxidative stress-induced premature senescence|positive regulation of gene expression|positive regulation of JNK cascade|positive regulation of phosphatidylinositol 3-kinase cascade|replicative senescence|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|plasma membrane|proteinaceous extracellular matrix	frizzled binding|signal transducer activity			breast(1)|large_intestine(4)|lung(9)|ovary(3)|prostate(1)	18	all_neural(327;0.117)					GAATGCAACCGTACATCAGAG	0.493													A	120979236	G	A	120979236	3	1	694	1	0	0	0	0	1	0	0	0	17487	1145	40	1	1018	1	WNT16	7	120979236	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		120979236	38159427	16	53876											
PTPRZ1	5803	broad.mit.edu	37	chr7	121651419	121651420	+	In_Frame_Ins	INS	-	-	TTG																															tctttcctctagtcacccctINSttgttgcttgacaatcagat																										TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:121651419_121651420insTTG	ENST00000393386.2	+	12	2730_2731	c.2319_2320insTTG	c.(2320-2322)ttg>TTGttg	p.774_774L>LL	PTPRZ1_ENST00000483028.1_Intron|PTPRZ1_ENST00000449182.1_Intron	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	774					central nervous system development	integral to plasma membrane	protein binding|protein tyrosine/threonine phosphatase activity|transmembrane receptor protein tyrosine phosphatase activity			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						TAGTCACCCCTTTGTTGCTTGA	0.485													TTG	121651420	-	TTG	121651419	7	5	694	1	0	1	1	0	0	0	0	0	12902	1596	56	0	2365	0	PTPRZ1	7	121651419	In_Frame_Ins	INS	-	TCGA-S9-A6TV-01A-12D-A34J-08	672183	121651419	37487244	17	53877											
SLC4A2	6522	broad.mit.edu	37	chr7	150762020	150762020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accactgccccaccaggaggCgactcctcgggcctccaaag	9	4	10	18	2	0	0	0	0	0	0	3	2	2	1	7	3	1	0	7	3	1	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr7:150762020C>T	ENST00000485713.1	+	5	1585	c.545C>T	c.(544-546)gCg>gTg	p.A182V	SLC4A2_ENST00000310317.5_Missense_Mutation_p.A100V|SLC4A2_ENST00000413384.2_Missense_Mutation_p.A182V|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A173V|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A168V	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	182	Pro-rich.				bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACCAGGAGGCGACTCCTCGG	0.587													T	150762020	C	T	150762020	3	4	694	1	0	0	0	0	1	0	0	0	14748	768	27	1	559	1	SLC4A2	7	150762020	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	29110601	150762020	8376643	18	53878											
UBR5	51366	broad.mit.edu	37	chr8	103269902	103269902	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcatcttctctactattgaCcagaaccaacgcttgaactg	11	12	5	13	1	3	3	1	2	2	1	4	3	3	3	2	0	4	1	2	0	5	5			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:103269902C>T	ENST00000520539.1	-	58	8751	c.8145G>A	c.(8143-8145)tgG>tgA	p.W2715*	UBR5_ENST00000518205.1_Nonsense_Mutation_p.W443*|UBR5_ENST00000521922.1_Nonsense_Mutation_p.W2708*|UBR5_ENST00000220959.4_Nonsense_Mutation_p.W2714*|KB-431C1.5_ENST00000606361.1_RNA	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	2715	HECT.				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)			CTACTATTGACCAGAACCAAC	0.328													T	103269902	C	T	103269902	4	4	694	1	0	0	0	0	0	1	0	0	17007	508	18	2	262	2	UBR5	8	103269902	Nonsense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		103269902	43094120	19	53879											
KIFC2	90990	broad.mit.edu	37	chr8	145698697	145698697	+	Frame_Shift_Del	DEL	T	T	-																															tgcacccctacgccgtccccTggcagtcctccatgccccag																										TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr8:145698697delT	ENST00000301332.2	+	17	2758	c.2381delT	c.(2380-2382)ctgfs	p.L794fs	KIFC2_ENST00000301331.5_3'UTR	NM_145754.2	NP_665697.1	Q96AC6	KIFC2_HUMAN	kinesin family member C2	794	Pro-rich.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(1)|kidney(1)|lung(7)|ovary(3)|prostate(3)|skin(2)|urinary_tract(1)	19	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			CGCCGTCCCCTGGCAGTCCTC	0.746													-	145698697	T	-	145698697	7	5	694	1	0	1	0	1	0	0	0	0	8371	1580	55	0	2447	0	KIFC2	8	145698697	Frame_Shift_Del	DEL	T	TCGA-S9-A6TV-01A-12D-A34J-08	42428795	145698697	665325	20	53880											
IFT74	80173	broad.mit.edu	37	chr9	27062702	27062702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagtacaataaaaccatcGtggatgctttacatagcacc	15	9	7	10	1	0	1	0	0	0	1	1	2	0	2	2	1	5	3	2	1	6	5			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:27062702G>A	ENST00000443698.1	+	20	1942	c.1771G>A	c.(1771-1773)Gtg>Atg	p.V591M	IFT74_ENST00000433700.1_Missense_Mutation_p.V591M|IFT74_ENST00000380062.5_Missense_Mutation_p.V591M	NM_001099222.1	NP_001092692.1	Q96LB3	IFT74_HUMAN	intraflagellar transport 74 homolog (Chlamydomonas)	591						cytoplasmic membrane-bounded vesicle|intraflagellar transport particle B|microtubule-based flagellum				endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)	6		all_neural(11;2.36e-10)		Lung(218;1.4e-05)|LUSC - Lung squamous cell carcinoma(38;0.000114)		TAAAACCATCGTGGATGCTTT	0.403													A	27062702	G	A	27062702	3	1	694	1	0	0	0	0	1	0	0	0	7621	1145	40	1	1914	1	IFT74	9	27062702	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		27062702	114150729	21	53881											
ARID3C	138715	broad.mit.edu	37	chr9	34623537	34623537	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggggcggggccgggaccCaaggctgggtcctgagcgcc	5	3	21	12	3	0	1	0	1	0	0	1	3	1	3	4	8	1	1	4	8	1	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:34623537C>T	ENST00000378909.2	-	4	842	c.750G>A	c.(748-750)ttG>ttA	p.L250L		NM_001017363.1	NP_001017363.1	A6NKF2	ARI3C_HUMAN	AT rich interactive domain 3C (BRIGHT-like)	250	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)	14	all_epithelial(49;0.102)		STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.175)		GGCCGGGACCCAAGGCTGGGT	0.721													T	34623537	C	T	34623537	2	4	694	1	0	0	0	0	0	0	0	1	921	593	21	2		2	ARID3C	9	34623537	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	7560835	34623537	106589894	22	53882											
PCSK5	5125	broad.mit.edu	37	chr9	78925604	78925604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctcaggcctgtgtttccTcctgtccccaaggcacatgg	5	11	11	14	0	1	0	1	0	0	0	4	0	4	0	5	4	0	3	5	4	1	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr9:78925604T>C	ENST00000545128.1	+	29	4178	c.3640T>C	c.(3640-3642)Tcc>Ccc	p.S1214P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	866					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CTGTGTTTCCTCCTGTCCCCA	0.517													C	78925604	T	C	78925604	3	2	694	1	0	0	0	0	1	0	0	0	11679	1566	54	3		3	PCSK5	9	78925604	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	44302067	78925604	62287827	23	53883											
USP6NL	9712	broad.mit.edu	37	chr10	11531171	11531171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatcttcctcgttcatataCatgaggagtaaagctgtgat	11	13	9	8	1	2	2	1	2	1	0	4	3	3	3	1	1	2	4	1	1	4	5			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr10:11531171C>T	ENST00000609104.1	-	10	988	c.594G>A	c.(592-594)atG>atA	p.M198I	USP6NL_ENST00000277575.5_Missense_Mutation_p.M215I|USP6NL_ENST00000379237.2_Missense_Mutation_p.M221I	NM_014688.2	NP_055503.1	Q92738	US6NL_HUMAN	USP6 N-terminal like		Rab-GAP TBC.					intracellular	Rab GTPase activator activity			endometrium(3)|kidney(2)|large_intestine(6)|lung(18)|prostate(1)|skin(1)|urinary_tract(1)	32						CGTTCATATACATGAGGAGTA	0.483													T	11531171	C	T	11531171	3	4	694	1	0	0	0	0	1	0	0	0	17189	478	17	2	1916	2	USP6NL	10	11531171	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		11531171	124003576	24	53884											
SPON1	10418	broad.mit.edu	37	chr11	14063263	14063263	+	RNA	DEL	A	A	-																															tttgtggtgtgattgcagggAaaaaaaaaaaagttctttac																								rs113227652		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:14063263delA	ENST00000310358.7	+	0	1017							Q9HCB6	SPON1_HUMAN	spondin 1, extracellular matrix protein						cell adhesion	extracellular space|proteinaceous extracellular matrix	protein binding			NS(1)|endometrium(1)|large_intestine(5)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)	21				Epithelial(150;0.00898)		GATTGCAGGGAAAAAAAAAAA	0.423													-	14063263	A	-	14063263	6	5	694	0	1	1	0	1	0	0	0	0	15178	261	9	0		0	SPON1	11	14063263	RNA	DEL	A	TCGA-S9-A6TV-01A-12D-A34J-08		14063263	120943253	25	53885											
DYNC2H1	79659	broad.mit.edu	37	chr11	103194689	103194689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctgcctgccaatatcgctCgctcatctcagcgcatgatc	7	11	8	15	3	3	1	2	1	2	0	7	1	3	1	2	0	3	3	2	0	2	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr11:103194689C>T	ENST00000375735.2	+	82	12154	c.12010C>T	c.(12010-12012)Cgc>Tgc	p.R4004C	DYNC2H1_ENST00000334267.7_Intron|DYNC2H1_ENST00000398093.3_Missense_Mutation_p.R4011C	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	4004					cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		CAATATCGCTCGCTCATCTCA	0.393													T	103194689	C	T	103194689	3	4	694	1	0	0	0	0	1	0	0	0	4885	884	31	1	12361	1	DYNC2H1	11	103194689	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	89131426	103194689	31811827	26	53886											
UBC	7316	broad.mit.edu	37	chr12	125397652	125397652	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atcccacctctgagacggagTaccaggtgcaaggtggactc	10	7	12	12	1	1	1	0	1	1	1	3	4	2	3	3	4	2	2	3	4	2	1	rs146795524		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr12:125397652T>C	ENST00000536769.1	-	1	2242	c.666A>G	c.(664-666)gtA>gtG	p.V222V	UBC_ENST00000538617.1_Intron|UBC_ENST00000546120.1_Silent_p.V146V|UBC_ENST00000339647.5_Silent_p.V222V			P0CG48	UBC_HUMAN	ubiquitin C	222	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		TGAGACGGAGTACCAGGTGCA	0.512													C	125397652	T	C	125397652	2	2	694	1	0	0	0	0	0	0	0	1	16944	1625	57	3		3	UBC	12	125397652	Silent	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		125397652	8454243	27	53887											
NDFIP2	54602	broad.mit.edu	37	chr13	80117788	80117788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatctgcggatttggccttTccttgatcaaatggatcctt	7	16	8	10	1	2	1	1	1	1	0	4	3	4	3	3	3	1	0	3	3	2	5			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr13:80117788T>C	ENST00000218652.7	+	5	863	c.811T>C	c.(811-813)Tcc>Ccc	p.S271P		NM_001161407.1|NM_019080.2	NP_001154879.1|NP_061953.2	Q9NV92	NFIP2_HUMAN	Nedd4 family interacting protein 2	271					negative regulation of gene expression|negative regulation of protein transport|negative regulation of transporter activity|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of protein ubiquitination	endoplasmic reticulum|Golgi membrane|integral to membrane|mitochondrion|multivesicular body membrane|perinuclear region of cytoplasm	signal transducer activity|WW domain binding			NS(1)|breast(1)|endometrium(2)|kidney(3)|lung(3)|ovary(2)|prostate(1)|skin(1)	14		Acute lymphoblastic leukemia(28;0.205)		GBM - Glioblastoma multiforme(99;0.0196)		ATTTGGCCTTTCCTTGATCAA	0.378													C	80117788	T	C	80117788	3	2	694	1	0	0	0	0	1	0	0	0	10322	1783	62	3	829	3	NDFIP2	13	80117788	Missense_Mutation	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08		80117788	35052090	28	53888											
CDC42BPB	9578	broad.mit.edu	37	chr14	103442111	103442111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggcccgagatgagcCgtggagggactgcacggtct	7	6	18	10	3	1	3	0	2	1	1	1	6	1	5	2	4	2	2	2	4	0	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr14:103442111C>T	ENST00000361246.2	-	11	1705	c.1417G>A	c.(1417-1419)Ggc>Agc	p.G473S		NM_006035.3	NP_006026.3	Q9Y5S2	MRCKB_HUMAN	CDC42 binding protein kinase beta (DMPK-like)	473					actin cytoskeleton reorganization|establishment or maintenance of cell polarity|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm|cytoskeleton	ATP binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(11)|liver(1)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	49		Melanoma(154;0.155)		Colorectal(3;0.0129)|READ - Rectum adenocarcinoma(2;0.0419)|Epithelial(152;0.0474)|all cancers(159;0.199)		CGAGATGAGCCGTGGAGGGAC	0.557													T	103442111	C	T	103442111	3	4	694	1	0	0	0	0	1	0	0	0	3103	652	23	1	3826	1	CDC42BPB	14	103442111	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		103442111	3907429	29	53889											
SLC12A1	6557	broad.mit.edu	37	chr15	48539642	48539642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcacttttcttatagccatgGcatttattcttattggtttg	7	21	6	7	0	3	0	1	0	2	0	3	0	3	0	1	2	1	2	1	2	4	10			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:48539642G>A	ENST00000396577.3	+	13	1884	c.1669G>A	c.(1669-1671)Gca>Aca	p.A557T	SLC12A1_ENST00000380993.3_Missense_Mutation_p.A557T|SLC12A1_ENST00000558405.1_Missense_Mutation_p.A557T	NM_001184832.1	NP_001171761.1	Q13621	S12A1_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 1	557					potassium ion transport|sodium ion transport	integral to membrane|membrane fraction	sodium:potassium:chloride symporter activity			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|prostate(2)|skin(1)	59		all_lung(180;0.00219)		all cancers(107;1.76e-09)|GBM - Glioblastoma multiforme(94;1.48e-06)	Bumetanide(DB00887)|Chlormerodrin(DB00534)|Chlorthalidone(DB00310)|Ethacrynic acid(DB00903)|Furosemide(DB00695)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Metolazone(DB00524)|Potassium Chloride(DB00761)|Torasemide(DB00214)|Trichlormethiazide(DB01021)	TATAGCCATGGCATTTATTCT	0.328													A	48539642	G	A	48539642	3	1	694	1	0	0	0	0	1	0	0	0	14476	1203	42	2	1815	2	SLC12A1	15	48539642	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		48539642	53991750	30	53890											
ABHD2	11057	broad.mit.edu	37	chr15	89736538	89736538	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagtcttctaaccattccaAaatctctttcaggtaagtgt	13	14	5	9	0	4	0	1	0	3	0	6	0	5	0	2	1	1	1	2	1	5	5			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr15:89736538A>G	ENST00000352732.5	+	10	1589	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E	ABHD2_ENST00000355100.3_Missense_Mutation_p.K357E|ABHD2_ENST00000565973.1_Missense_Mutation_p.K357E	NM_152924.4	NP_690888.1	P08910	ABHD2_HUMAN	abhydrolase domain containing 2	357						integral to membrane	carboxylesterase activity			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|soft_tissue(1)	23	Lung NSC(78;0.0472)|all_lung(78;0.089)					AACCATTCCAAAATCTCTTTC	0.433													G	89736538	A	G	89736538	3	3	694	1	0	0	0	0	1	0	0	0	82	15	1	3	1099	3	ABHD2	15	89736538	Missense_Mutation	SNP	A	TCGA-S9-A6TV-01A-12D-A34J-08	41196896	89736538	12794854	31	53891											
CNOT1	23019	broad.mit.edu	37	chr16	58587700	58587700	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttacctcctgtaaatgatGtggaaattgcataaagtgac	14	12	8	7	0	0	2	0	2	0	0	1	3	1	3	2	1	2	2	2	1	6	4			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr16:58587700G>T	ENST00000317147.5	-	22	3288	c.2956C>A	c.(2956-2958)Cat>Aat	p.H986N	CNOT1_ENST00000569240.1_Missense_Mutation_p.H981N|CNOT1_ENST00000569732.1_Intron|CNOT1_ENST00000441024.2_Missense_Mutation_p.H986N	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	986					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		TGTAAATGATGTGGAAATTGC	0.358													T	58587700	G	T	58587700	3	4	694	1	0	0	0	0	1	0	0	0	3648	1377	48	4	4508	4	CNOT1	16	58587700	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		58587700	31767053	32	53892											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	694	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08		7577121	73618089	33	53893											
EFCAB5	374786	broad.mit.edu	37	chr17	28405524	28405524	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttaaggccctcatgcaggTacgtttcctaaagcagtatg	10	12	9	10	1	1	0	1	0	0	0	2	0	2	0	2	2	3	5	2	2	5	6			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:28405524T>C	ENST00000394835.3	+	15	3219		c.e15+2		EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Splice_Site	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5								calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CTCATGCAGGTACGTTTCCTA	0.463													C	28405524	T	C	28405524	5	2	694	1	0	0	0	0	0	0	1	0	4977	1652	57	3	3254	3	EFCAB5	17	28405524	Splice_Site	SNP	T	TCGA-S9-A6TV-01A-12D-A34J-08	20828403	28405524	52789686	34	53894											
LHX1	3975	broad.mit.edu	37	chr17	35298051	35298051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacctgggcgccaagcggcGgggaccgcgcaccaccatca	9	2	14	16	5	1	0	1	0	0	0	1	2	1	1	5	4	2	1	5	4	2	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:35298051G>A	ENST00000254457.5	+	3	1953	c.542G>A	c.(541-543)cGg>cAg	p.R181Q	RP11-445F12.2_ENST00000607336.1_RNA	NM_005568.3	NP_005559.2	P48742	LHX1_HUMAN	LIM homeobox 1	181					cerebellar Purkinje cell differentiation|cerebellar Purkinje cell-granule cell precursor cell signaling involved in regulation of granule cell precursor cell proliferation|cervix development|comma-shaped body morphogenesis|dorsal/ventral pattern formation|ectoderm formation|embryonic pattern specification|embryonic retina morphogenesis in camera-type eye|embryonic viscerocranium morphogenesis|endoderm formation|forebrain regionalization|head development|motor axon guidance|negative regulation of transcription, DNA-dependent|nephric duct morphogenesis|nephron tubule epithelial cell differentiation|neuron migration|oviduct epithelium development|paramesonephric duct development|positive regulation of anterior head development|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of transcription, DNA-dependent|post-embryonic development|primitive streak formation|renal vesicle morphogenesis|retina layer formation|S-shaped body morphogenesis|spinal cord association neuron differentiation|transcription from RNA polymerase II promoter|ureteric bud development|uterine epithelium development|vagina development	nucleus|protein complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Breast(25;0.00607)				GCCAAGCGGCGGGGACCGCGC	0.667													A	35298051	G	A	35298051	3	1	694	1	0	0	0	0	1	0	0	0	8830	1116	39	1	552	1	LHX1	17	35298051	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	6892527	35298051	45897159	35	53895											
RNF43	54894	broad.mit.edu	37	chr17	56439937	56439937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgggggcggcaccggatgcGcagcaccgaagccaggatga	9	2	18	12	5	0	1	0	1	0	0	0	4	0	3	3	5	3	3	3	5	1	0			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr17:56439937G>A	ENST00000584437.1	-	5	2610	c.655C>T	c.(655-657)Cgc>Tgc	p.R219C	RNF43_ENST00000577716.1_Missense_Mutation_p.R219C|RNF43_ENST00000581868.1_Missense_Mutation_p.R92C|RNF43_ENST00000407977.2_Missense_Mutation_p.R219C|RNF43_ENST00000577625.1_Missense_Mutation_p.R92C|RNF43_ENST00000583753.1_Missense_Mutation_p.R178C|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000500597.2_Missense_Mutation_p.R178C			Q68DV7	RNF43_HUMAN	ring finger protein 43	219						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					CACCGGATGCGCAGCACCGAA	0.607													A	56439937	G	A	56439937	3	1	694	1	0	0	0	0	1	0	0	0	13586	1087	38	1	1716	1	RNF43	17	56439937	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	21141886	56439937	24755273	36	53896											
MED16	10025	broad.mit.edu	37	chr19	877046	877046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctctgtaccatactgggCtgcacgtgcagcaggatgtc	8	9	13	11	1	1	0	0	0	1	0	2	1	1	1	1	3	5	6	1	3	2	2			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:877046C>A	ENST00000312090.6	-	9	1638	c.1488G>T	c.(1486-1488)caG>caT	p.Q496H	MED16_ENST00000395808.3_Missense_Mutation_p.Q496H|MED16_ENST00000269814.4_Missense_Mutation_p.Q496H|MED16_ENST00000606828.1_Intron|MED16_ENST00000325464.1_Missense_Mutation_p.Q496H|MED16_ENST00000589119.1_Missense_Mutation_p.Q496H			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	496					androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCATACTGGGCTGCACGTGCA	0.682													A	877046	C	A	877046	3	1	694	1	0	0	0	0	1	0	0	0	9509	796	28	4	1177	4	MED16	19	877046	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		877046	58251937	37	53897											
ATP13A1	57130	broad.mit.edu	37	chr19	19770501	19770501	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgagaaggcgtttcccaCaggaaaggccacggggagaa	13	5	15	8	2	0	2	0	1	0	2	1	5	1	3	2	5	0	2	2	5	4	2			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr19:19770501C>T	ENST00000357324.6	-	3	612	c.586G>A	c.(586-588)Gtg>Atg	p.V196M	ATP13A1_ENST00000291503.5_Missense_Mutation_p.V78M	NM_020410.2	NP_065143.2	Q9HD20	AT131_HUMAN	ATPase type 13A1	196					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29						GCGTTTCCCACAGGAAAGGCC	0.517													T	19770501	C	T	19770501	3	4	694	1	0	0	0	0	1	0	0	0	1128	478	17	2	3124	2	ATP13A1	19	19770501	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	18893455	19770501	39358482	38	53898											
RASSF2	9770	broad.mit.edu	37	chr20	4771250	4771250	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctgcaggggcttcaggccCctggagtctgagagaggaga	8	7	16	10	0	2	3	1	1	1	2	3	6	3	4	3	5	1	2	3	5	0	1			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chr20:4771250C>T	ENST00000379400.3	-	7	579	c.384G>A	c.(382-384)agG>agA	p.R128R	RASSF2_ENST00000478553.1_5'UTR|RASSF2_ENST00000379376.2_Silent_p.R128R	NM_014737.2	NP_055552.1	P50749	RASF2_HUMAN	Ras association (RalGDS/AF-6) domain family member 2	128					cell cycle|signal transduction	nucleus	protein binding			endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|pancreas(2)|prostate(2)|skin(2)	34						GCTTCAGGCCCCTGGAGTCTG	0.607													T	4771250	C	T	4771250	2	4	694	1	0	0	0	0	0	0	0	1	13174	622	22	2		2	RASSF2	20	4771250	Silent	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		4771250	58254270	39	53899											
GAGE2A	729447	broad.mit.edu	37	chrX	49355893	49355893	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgctcaggagggaCaggatgagggagcatctgca	10	6	16	9	0	2	1	1	1	1	0	2	5	2	5	0	4	5	5	0	4	0	0	rs147803166	by1000genomes	TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:49355893C>G	ENST00000362097.1	+	3	258	c.175C>G	c.(175-177)Cag>Gag	p.Q59E		NM_001127212.1	NP_001120684.1			G antigen 2A									p.Q59E(8)		endometrium(4)	4	Ovarian(276;0.236)					TCAGGAGGGACAGGATGAGGG	0.562													G	49355893	C	G	49355893	3	3	694	1	0	0	0	0	1	0	0	0	6243	479	17	4	1282	4	GAGE2A	23	49355893	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08		49355893	105914667	40	53900											
ATRX	546	broad.mit.edu	37	chrX	76829787	76829787	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagtagtggaaccatctaaaCggtaatagtcaatgtttcga	14	11	9	7	2	2	0	1	0	1	0	3	2	2	1	1	2	2	3	1	2	7	5			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:76829787C>G	ENST00000373344.5	-	28	6468	c.6254G>C	c.(6253-6255)cGt>cCt	p.R2085P	ATRX_ENST00000395603.3_Missense_Mutation_p.R2047P|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2085	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)	ACCATCTAAACGGTAATAGTC	0.363			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76829787	C	G	76829787	3	3	694	1	0	0	0	0	1	0	0	0	1213	536	19	4	1256	4	ATRX	23	76829787	Missense_Mutation	SNP	C	TCGA-S9-A6TV-01A-12D-A34J-08	27473894	76829787	78440773	41	53901											
AFF2	2334	broad.mit.edu	37	chrX	148038126	148038126	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagaaaccagcccctaagGgcaaacgtaagcacaaggta	16	4	11	10	1	0	1	0	0	0	1	0	2	0	1	3	3	4	4	3	3	6	3			TCGA-S9-A6TV-01A-12D-A34J-08	TCGA-S9-A6TV-10B-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	27b71bf2-c31a-48ee-aef4-8a0ad0a48e68	7de66b19-5722-46c3-ab65-e002d48b3117	g.chrX:148038126G>T	ENST00000370460.2	+	11	3030	c.2551G>T	c.(2551-2553)Ggc>Tgc	p.G851C	AFF2_ENST00000370457.5_Missense_Mutation_p.G818C|AFF2_ENST00000286437.5_Missense_Mutation_p.G492C|AFF2_ENST00000342251.3_Missense_Mutation_p.G818C	NM_001169123.1|NM_002025.3	NP_001162594.1|NP_002016.2	P51816	AFF2_HUMAN	AF4/FMR2 family, member 2	851					brain development|mRNA processing|regulation of RNA splicing|RNA splicing	nuclear speck	G-quadruplex RNA binding|protein binding			breast(5)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(29)|liver(2)|lung(39)|ovary(4)|pancreas(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	109	Acute lymphoblastic leukemia(192;6.56e-05)					AGCCCCTAAGGGCAAACGTAA	0.517													T	148038126	G	T	148038126	3	4	694	1	0	0	0	0	1	0	0	0	357	1232	43	4	2648	4	AFF2	23	148038126	Missense_Mutation	SNP	G	TCGA-S9-A6TV-01A-12D-A34J-08	71208339	148038126	7232434	42	53902											
SGIP1	84251	broad.mit.edu	37	chr1	67109265	67109267	+	In_Frame_Del	DEL	GAA	GAA	-																															tttattcttcaagtgaatcgGaagaagaagaagaatcacat																										TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:67109265_67109267delGAA	ENST00000371037.4	+	7	399_401	c.322_324delGAA	c.(322-324)gaadel	p.E112del	SGIP1_ENST00000371036.3_In_Frame_Del_p.E87del|SGIP1_ENST00000237247.6_In_Frame_Del_p.E116del|SGIP1_ENST00000371039.1_In_Frame_Del_p.E88del|SGIP1_ENST00000371035.3_In_Frame_Del_p.E69del|SGIP1_ENST00000468286.1_3'UTR	NM_032291.2	NP_115667.2	Q9BQI5	SGIP1_HUMAN	SH3-domain GRB2-like (endophilin) interacting protein 1	112	Poly-Glu.		E -> Q (in dbSNP:rs17490057).		positive regulation of energy homeostasis|positive regulation of feeding behavior|positive regulation of receptor-mediated endocytosis|response to dietary excess	AP-2 adaptor complex	microtubule binding|phospholipid binding|SH3 domain binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(43)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	71						AAGTGAATCGGAAGAAGAAGAAG	0.345													-	67109267	GAA	-	67109265	7	5	695	1	0	1	0	1	0	0	0	0	14299	1175	41	0	348	0	SGIP1	1	67109265	In_Frame_Del	DEL	GAA	TCGA-S9-A6TW-01A-12D-A32B-08		67109265	182141356	1	53903											
HHAT	55733	broad.mit.edu	37	chr1	210796935	210796935	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttgcttcttgttccacctcGatgctgatcctgtccaacct	5	15	6	15	1	1	1	0	1	1	0	5	2	4	1	5	0	3	3	5	0	1	4			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr1:210796935G>A	ENST00000367010.1	+	11	1538	c.1311G>A	c.(1309-1311)tcG>tcA	p.S437S	HHAT_ENST00000413764.2_Silent_p.S437S|HHAT_ENST00000367009.1_Silent_p.S127S|HHAT_ENST00000391905.3_Silent_p.S437S|HHAT_ENST00000537898.1_Silent_p.S372S|HHAT_ENST00000261458.3_Silent_p.S437S|HHAT_ENST00000541565.1_Silent_p.S300S|HHAT_ENST00000308852.6_Silent_p.S392S|HHAT_ENST00000545781.1_Silent_p.S374S|HHAT_ENST00000545154.1_Silent_p.S438S	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	437					multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		GTTCCACCTCGATGCTGATCC	0.502													A	210796935	G	A	210796935	2	1	695	1	0	0	0	0	0	0	0	1	7144	1045	37	1		1	HHAT	1	210796935	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	143687670	210796935	38453686	2	53904											
DCTN1	1639	broad.mit.edu	37	chr2	74598294	74598296	+	In_Frame_Del	DEL	CCT	CCT	-																															ccgcacctgagcccttagtcCctcctcctcctgcaaaggag																										TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr2:74598294_74598296delCCT	ENST00000361874.3	-	9	970_972	c.653_655delAGG	c.(652-657)gaggga>gga	p.E218del	DCTN1_ENST00000409240.1_In_Frame_Del_p.E181del|DCTN1_ENST00000409567.3_In_Frame_Del_p.E198del|DCTN1_ENST00000409438.1_In_Frame_Del_p.E84del|DCTN1_ENST00000394003.3_In_Frame_Del_p.E211del|DCTN1_ENST00000407639.2_In_Frame_Del_p.E84del|DCTN1_ENST00000409868.1_In_Frame_Del_p.E201del	NM_004082.4	NP_004073.2	Q14203	DCTN1_HUMAN	dynactin 1	218					cell death|G2/M transition of mitotic cell cycle|mitosis|nervous system development	centrosome|cytosol|kinetochore|microtubule|spindle pole	motor activity|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(1)|skin(3)	45						GCCCTTAGTCCCTCCTCCTCCTG	0.542													-	74598296	CCT	-	74598294	7	5	695	1	0	1	0	1	0	0	0	0	4340	632	22	0	3277	0	DCTN1	2	74598294	In_Frame_Del	DEL	CCT	TCGA-S9-A6TW-01A-12D-A32B-08		74598294	168601079	3	53905											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	695	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	134514818	209113112	34086261	4	53906											
CPNE9	151835	broad.mit.edu	37	chr3	9754444	9754444	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagctgtgtgcaaacaagctGgacaagaaggacttctttgg	12	9	12	8	0	1	1	0	0	1	1	1	3	1	3	0	3	4	3	0	3	4	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:9754444G>A	ENST00000383832.3	+	9	667	c.477G>A	c.(475-477)ctG>ctA	p.L159L	CPNE9_ENST00000383831.3_Silent_p.L159L	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	159	C2 2.									breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					CAAACAAGCTGGACAAGAAGG	0.517													A	9754444	G	A	9754444	2	1	695	1	0	0	0	0	0	0	0	1	3850	1335	47	2		2	CPNE9	3	9754444	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		9754444	188267986	5	53907											
UBP1	7342	broad.mit.edu	37	chr3	33450750	33450750	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgtgaggattgtggtatcaTaggacggctgatacttttct	8	15	12	6	1	2	2	1	2	1	0	2	4	2	4	0	4	1	2	0	4	3	6			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:33450750T>C	ENST00000283629.3	-	7	1326	c.797A>G	c.(796-798)tAt>tGt	p.Y266C	UBP1_ENST00000283628.5_Missense_Mutation_p.Y266C|UBP1_ENST00000447368.2_Missense_Mutation_p.Y266C	NM_001128161.1|NM_014517.4	NP_001121633.1|NP_055332.3	Q9NZI7	UBIP1_HUMAN	upstream binding protein 1 (LBP-1a)	266					negative regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|viral genome replication	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(2)|kidney(4)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|urinary_tract(2)	23						TGTGGTATCATAGGACGGCTG	0.383													C	33450750	T	C	33450750	3	2	695	1	0	0	0	0	1	0	0	0	16997	1406	49	3	865	3	UBP1	3	33450750	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08	23696306	33450750	164571680	6	53908											
RASSF1	11186	broad.mit.edu	37	chr3	50368774	50368774	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgtactcacgttcacctcCccagagtcattttccttcag	8	14	5	14	1	4	1	4	0	0	1	6	1	6	1	4	0	1	2	4	0	2	6			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:50368774C>T	ENST00000359365.4	-	5	973	c.867G>A	c.(865-867)ggG>ggA	p.G289G	RASSF1_ENST00000327761.3_Silent_p.G219G|RASSF1_ENST00000395126.3_Silent_p.G138G|RASSF1_ENST00000357043.2_Silent_p.G293G	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	293	Ras-associating.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGTTCACCTCCCCAGAGTCAT	0.542													T	50368774	C	T	50368774	2	4	695	1	0	0	0	0	0	0	0	1	13172	610	22	2		2	RASSF1	3	50368774	Silent	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	16918024	50368774	147653656	7	53909											
PIK3CA	5290	broad.mit.edu	37	chr3	178916938	178916940	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgaaccagtaggcaaccgtGaagaaaagatcctcaatcga																										TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178916938_178916940delGAA	ENST00000263967.3	+	2	482_484	c.325_327delGAA	c.(325-327)gaadel	p.E110del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	110					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E109del(3)|p.G106_R108del(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AGGCAACCGTGAAGAAAAGATCC	0.34		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178916940	GAA	-	178916938	7	5	695	1	0	1	0	1	0	0	0	0	11990	1291	45	0	327	0	PIK3CA	3	178916938	In_Frame_Del	DEL	GAA	TCGA-S9-A6TW-01A-12D-A32B-08	128548164	178916938	19105492	8	53910											
PIK3CA	5290	broad.mit.edu	37	chr3	178921551	178921551	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctttgtgcaacctacgtgAatgtaaatattcgagacatt	12	15	7	7	2	1	2	0	1	1	1	2	3	1	2	1	0	3	2	1	0	6	7			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:178921551A>T	ENST00000263967.3	+	5	1190	c.1033A>T	c.(1033-1035)Aat>Tat	p.N345Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AACCTACGTGAATGTAAATAT	0.303		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178921551	A	T	178921551	3	4	695	1	0	0	0	0	1	0	0	0	11990	246	9	5	1047	5	PIK3CA	3	178921551	Missense_Mutation	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08	4613	178921551	19100879	9	53911											
MAP3K13	9175	broad.mit.edu	37	chr3	185190929	185190929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcagccatagtgactttgccGcaatcttgaaaaaccagcca	13	8	8	12	1	1	2	0	2	1	0	1	2	1	2	4	0	4	2	4	0	4	3			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr3:185190929G>A	ENST00000265026.3	+	11	2144	c.1810G>A	c.(1810-1812)Gca>Aca	p.A604T	MAP3K13_ENST00000424227.1_Missense_Mutation_p.A604T|MAP3K13_ENST00000535426.1_Missense_Mutation_p.A460T|MAP3K13_ENST00000446828.1_Missense_Mutation_p.A397T|MAP3K13_ENST00000443863.1_Missense_Mutation_p.A460T	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	mitogen-activated protein kinase kinase kinase 13	604					activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGACTTTGCCGCAATCTTGAA	0.507													A	185190929	G	A	185190929	3	1	695	1	0	0	0	0	1	0	0	0	9322	1087	38	1	1848	1	MAP3K13	3	185190929	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	6269378	185190929	12831501	10	53912											
PCDHGA6	56109	broad.mit.edu	37	chr5	140754997	140754997	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacaccaacgacaacccGcccaccttcccccattcatc	11	5	4	21	2	1	1	1	0	0	1	3	2	2	1	6	0	2	1	6	0	2	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr5:140754997G>A	ENST00000517434.1	+	1	1347	c.1347G>A	c.(1345-1347)ccG>ccA	p.P449P	PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018919.2|NM_032086.1	NP_061742.1|NP_114475.1														breast(1)|large_intestine(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGACAACCCGCCCACCTTCC	0.512													A	140754997	G	A	140754997	2	1	695	1	0	0	0	0	0	0	0	1	11634	1074	38	1		1	PCDHGA6	5	140754997	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		140754997	40160263	11	53913											
JARID2	3720	broad.mit.edu	37	chr6	15374364	15374364	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaggatgacagtgatgggaTtccgtggtcagaagaacggg	11	8	16	6	2	2	4	2	2	0	2	3	6	3	6	1	4	1	0	1	4	2	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:15374364T>G	ENST00000341776.2	+	2	306	c.62T>G	c.(61-63)aTt>aGt	p.I21S	JARID2_ENST00000397311.3_De_novo_Start_InFrame	NM_004973.3	NP_004964.2	Q92833	JARD2_HUMAN	jumonji, AT rich interactive domain 2	21					central nervous system development|chromatin modification|negative regulation of histone methylation|positive regulation of histone H3-K9 methylation|stem cell differentiation|transcription, DNA-dependent		chromatin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(5)|stomach(1)	59	Breast(50;0.0142)|Ovarian(93;0.103)	all_hematologic(90;0.00612)				AGTGATGGGATTCCGTGGTCA	0.413													G	15374364	T	G	15374364	3	3	695	1	0	0	0	0	1	0	0	0	8003	1493	52	5	68	5	JARID2	6	15374364	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08		15374364	155740703	12	53914											
TBC1D22B	55633	broad.mit.edu	37	chr6	37298922	37298922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gactcaagtacatgtttgccGatgccccaaatcactaccgc	11	9	7	14	2	2	0	2	0	0	0	2	2	2	0	4	0	4	2	4	0	4	3			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:37298922G>A	ENST00000373491.3	+	13	1638	c.1492G>A	c.(1492-1494)Gat>Aat	p.D498N		NM_017772.2	NP_060242.2	Q9NU19	TB22B_HUMAN	TBC1 domain family, member 22B	498						intracellular	Rab GTPase activator activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)	15			OV - Ovarian serous cystadenocarcinoma(102;0.241)			CATGTTTGCCGATGCCCCAAA	0.547													A	37298922	G	A	37298922	3	1	695	1	0	0	0	0	1	0	0	0	15709	1058	37	1	1542	1	TBC1D22B	6	37298922	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	21924558	37298922	133816145	13	53915											
SLC35F1	222553	broad.mit.edu	37	chr6	118606389	118606389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgcctgcatgtttggtctctAcagctttatgccagtcgtca	6	15	9	11	1	2	0	1	0	1	0	4	0	2	0	2	1	5	3	2	1	2	4			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:118606389A>G	ENST00000360388.4	+	7	1091	c.890A>G	c.(889-891)tAc>tGc	p.Y297C		NM_001029858.3	NP_001025029.2	Q5T1Q4	S35F1_HUMAN	solute carrier family 35, member F1	297					transport	integral to membrane				breast(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(226;0.217)		TTTGGTCTCTACAGCTTTATG	0.507											OREG0017635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	118606389	A	G	118606389	3	3	695	1	0	0	0	0	1	0	0	0	14682	391	14	3	916	3	SLC35F1	6	118606389	Missense_Mutation	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08	81307467	118606389	52508678	14	53916											
AHI1	54806	broad.mit.edu	37	chr6	135754276	135754276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccatatccgtatcatggaatCatagcatcctgtaactacta	13	12	5	11	1	2	0	2	0	0	0	4	1	4	1	3	1	3	3	3	1	7	6			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr6:135754276C>T	ENST00000367800.4	-	14	2371	c.2155G>A	c.(2155-2157)Gat>Aat	p.D719N	AHI1_ENST00000457866.2_Missense_Mutation_p.D719N|AHI1_ENST00000417892.2_Missense_Mutation_p.D73N|AHI1_ENST00000327035.6_Missense_Mutation_p.D719N	NM_001134830.1	NP_001128302.1	Q8N157	AHI1_HUMAN	Abelson helper integration site 1	719						adherens junction|cilium|microtubule basal body				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)	37	Breast(56;0.239)|Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00904)|OV - Ovarian serous cystadenocarcinoma(155;0.00991)		ATCATGGAATCATAGCATCCT	0.363													T	135754276	C	T	135754276	3	4	695	1	0	0	0	0	1	0	0	0	413	826	29	2	1548	2	AHI1	6	135754276	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	17147887	135754276	35360791	15	53917											
MAD1L1	8379	broad.mit.edu	37	chr7	2255588	2255588	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccccagcttcctctgcaGcccttccagctcttcctgga	4	10	8	19	1	2	0	0	0	2	0	5	1	5	1	6	1	4	3	6	1	0	3			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:2255588G>A	ENST00000406869.1	-	9	1413	c.856C>T	c.(856-858)Ctg>Ttg	p.L286L	MAD1L1_ENST00000265854.7_Silent_p.L286L|MAD1L1_ENST00000402746.1_Silent_p.L194L|MAD1L1_ENST00000399654.2_Silent_p.L286L			Q9Y6D9	MD1L1_HUMAN	MAD1 mitotic arrest deficient-like 1 (yeast)	286					cell division|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase|mitotic prometaphase|mitotic telophase	actin cytoskeleton|centrosome|condensed chromosome kinetochore|cytosol|mitochondrion|nucleus|spindle	protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(5)	36		Ovarian(82;0.0272)		UCEC - Uterine corpus endometrioid carcinoma (27;0.134)|OV - Ovarian serous cystadenocarcinoma(56;3.63e-14)		TTCCTCTGCAGCCCTTCCAGC	0.607													A	2255588	G	A	2255588	2	1	695	1	0	0	0	0	0	0	0	1	9218	962	34	2		2	MAD1L1	7	2255588	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		2255588	156883075	16	53918											
CNOT4	4850	broad.mit.edu	37	chr7	135078909	135078909	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaaggtactattgagagaaTtggcatttgtagctgcagca	14	11	11	5	0	0	2	0	1	0	1	0	3	0	2	0	2	4	6	0	2	6	6			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr7:135078909T>C	ENST00000428680.2	-	10	1658	c.1379A>G	c.(1378-1380)aAt>aGt	p.N460S	CNOT4_ENST00000414802.1_Intron|CNOT4_ENST00000451834.1_Missense_Mutation_p.N460S|CNOT4_ENST00000361528.4_Missense_Mutation_p.N460S|CNOT4_ENST00000315544.5_Missense_Mutation_p.N463S|CNOT4_ENST00000541284.1_Missense_Mutation_p.N463S|CNOT4_ENST00000423368.2_Missense_Mutation_p.N463S|CNOT4_ENST00000356162.4_Intron	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	463					nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						ATTGAGAGAATTGGCATTTGT	0.502													C	135078909	T	C	135078909	3	2	695	1	0	0	0	0	1	0	0	0	3652	1493	52	3	653	3	CNOT4	7	135078909	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08	132823321	135078909	24059754	17	53919											
TPD52	7163	broad.mit.edu	37	chr8	80976789	80976791	+	In_Frame_Del	DEL	TCT	TCT	-																															cactgatcgtggcagcaacaTcttctccttcctcagggact																										TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr8:80976789_80976791delTCT	ENST00000379096.5	-	2	171_173	c.57_59delAGA	c.(55-60)gaagat>gat	p.E19del	TPD52_ENST00000517427.1_In_Frame_Del_p.E59del|TPD52_ENST00000518937.1_In_Frame_Del_p.E19del|TPD52_ENST00000448733.2_In_Frame_Del_p.E59del|TPD52_ENST00000520527.1_In_Frame_Del_p.E59del|TPD52_ENST00000537855.1_In_Frame_Del_p.E59del|TPD52_ENST00000519303.2_5'UTR|TPD52_ENST00000379097.3_In_Frame_Del_p.E59del	NM_005079.2	NP_005070.1	P55327	TPD52_HUMAN	tumor protein D52	59					anatomical structure morphogenesis|B cell differentiation|secretion	endoplasmic reticulum|perinuclear region of cytoplasm	calcium ion binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	all_epithelial(4;1.13e-09)|Lung NSC(7;9.71e-07)|all_lung(9;3.75e-06)	Lung NSC(129;3.55e-06)|all_lung(136;1.53e-05)|Acute lymphoblastic leukemia(644;0.158)	BRCA - Breast invasive adenocarcinoma(6;0.00181)|Epithelial(68;0.0149)|all cancers(69;0.0612)			GGCAGCAACATCTTCTCCTTCCT	0.448													-	80976791	TCT	-	80976789	7	5	695	1	0	1	0	1	0	0	0	0	16498	1435	50	0	592	0	TPD52	8	80976789	In_Frame_Del	DEL	TCT	TCGA-S9-A6TW-01A-12D-A32B-08		80976789	65387233	18	53920											
ASTN2	23245	broad.mit.edu	37	chr9	119249746	119249746	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacaagatgtgcccaggccaGagagtaagtcatcagcaaaa	16	5	10	10	0	2	2	2	0	0	2	2	3	2	2	2	1	2	2	2	1	4	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:119249746G>C	ENST00000313400.4	-	20	3489	c.3389C>G	c.(3388-3390)tCt>tGt	p.S1130C	ASTN2_ENST00000361477.3_Missense_Mutation_p.S182C|ASTN2_ENST00000288520.5_Missense_Mutation_p.S231C|ASTN2_ENST00000341734.4_Missense_Mutation_p.S182C|ASTN2_ENST00000373996.3_Missense_Mutation_p.S1126C|ASTN2_ENST00000361209.2_Missense_Mutation_p.S1079C			O75129	ASTN2_HUMAN	astrotactin 2	1130	Fibronectin type-III.					integral to membrane				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						GCCCAGGCCAGAGAGTAAGTC	0.512													C	119249746	G	C	119249746	3	2	695	1	0	0	0	0	1	0	0	0	1070	942	33	4	687	4	ASTN2	9	119249746	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		119249746	21963685	19	53921											
GSN	2934	broad.mit.edu	37	chr9	124080948	124080948	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctcccctccccaggtctcGgtccttcctgagggcggtga	3	9	12	17	2	1	2	0	2	1	0	6	2	5	2	7	4	0	0	7	4	0	1	rs145170518		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:124080948G>A	ENST00000373823.3	+	17	1886	c.981G>A	c.(979-981)tcG>tcA	p.S327S	GSN_ENST00000394353.2_Silent_p.S338S|GSN_ENST00000373818.4_Silent_p.S378S|GSN_ENST00000436847.1_Silent_p.S338S|GSN_ENST00000449733.1_Silent_p.S327S|GSN_ENST00000373807.1_Silent_p.S109S|GSN_ENST00000545652.1_Silent_p.S335S|GSN_ENST00000412819.1_Silent_p.S327S|GSN_ENST00000341272.2_Silent_p.S327S|GSN_ENST00000373808.2_Silent_p.S327S			P06396	GELS_HUMAN	gelsolin	378					actin filament polymerization|actin filament severing|barbed-end actin filament capping|cellular component disassembly involved in apoptosis|cilium morphogenesis	actin cytoskeleton|cytosol	actin binding|calcium ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)	21						CCCAGGTCTCGGTCCTTCCTG	0.632													A	124080948	G	A	124080948	2	1	695	1	0	0	0	0	0	0	0	1	6880	1103	39	1		1	GSN	9	124080948	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	4831202	124080948	17132483	20	53922											
SURF4	6836	broad.mit.edu	37	chr9	136230378	136230380	+	In_Frame_Del	DEL	CTT	CTT	-																															atctgtgactgttaccactcCttcttcttctcatccatgga																										TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:136230378_136230380delCTT	ENST00000371989.3	-	6	928_930	c.799_801delAAG	c.(799-801)aagdel	p.K267del	SURF4_ENST00000485435.2_Intron|SURF4_ENST00000545297.1_3'UTR	NM_001280788.1|NM_001280790.1|NM_001280791.1|NM_033161.2	NP_001267717.1|NP_001267719.1|NP_001267720.1|NP_149351.1	O15260	SURF4_HUMAN	surfeit 4	267						endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	protein binding			kidney(1)|large_intestine(2)|lung(5)	8				OV - Ovarian serous cystadenocarcinoma(145;5.32e-07)|Epithelial(140;4.56e-06)|all cancers(34;4.25e-05)		GTTACCACTCCTTCTTCTTCTCA	0.547													-	136230380	CTT	-	136230378	7	5	695	1	0	1	0	1	0	0	0	0	15501	680	24	0	12	0	SURF4	9	136230378	In_Frame_Del	DEL	CTT	TCGA-S9-A6TW-01A-12D-A32B-08	12149430	136230378	4983053	21	53923											
C9orf69	90120	broad.mit.edu	37	chr9	139008643	139008643	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgaagttgttgtacttggtgCgggccaggtgggaggcgcgc	5	9	19	8	4	0	0	0	0	0	0	0	2	0	1	1	5	2	3	1	5	2	4			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr9:139008643C>T	ENST00000561457.1	-	2	628	c.178G>A	c.(178-180)Gca>Aca	p.A60T	C9orf69_ENST00000418388.1_Missense_Mutation_p.R35H	NM_152833.2	NP_690046.3			chromosome 9 open reading frame 69											endometrium(1)	1		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.58e-07)|Epithelial(140;6.42e-06)		GTACTTGGTGCGGGCCAGGTG	0.657													T	139008643	C	T	139008643	3	4	695	1	0	0	0	0	1	0	0	0	2518	768	27	1	233	1	C9orf69	9	139008643	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	2778265	139008643	2204788	22	53924											
CUBN	8029	broad.mit.edu	37	chr10	17142012	17142012	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcacacatacctggttgcTgtgtttcccatcttactgta	7	16	7	11	0	2	0	1	0	1	0	3	0	3	0	2	1	3	5	2	1	3	6			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:17142012T>C	ENST00000377833.4	-	14	1822	c.1757A>G	c.(1756-1758)cAg>cGg	p.Q586R		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	586	CUB 1.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ACCTGGTTGCTGTGTTTCCCA	0.378													C	17142012	T	C	17142012	3	2	695	1	0	0	0	0	1	0	0	0	4084	1580	55	3	9330	3	CUBN	10	17142012	Missense_Mutation	SNP	T	TCGA-S9-A6TW-01A-12D-A32B-08		17142012	118392735	23	53925											
PTEN	5728	broad.mit.edu	37	chr10	89717661	89717661	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagatatattcctccaattCaggacccacacgacgggaag	14	7	9	11	2	1	1	1	0	0	1	3	5	3	3	3	2	0	0	3	2	5	4			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:89717661C>G	ENST00000371953.3	+	7	2043	c.686C>G	c.(685-687)tCa>tGa	p.S229*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	229	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.S229*(6)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCCTCCAATTCAGGACCCACA	0.423		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			G	89717661	C	G	89717661	4	3	695	1	0	0	0	0	0	1	0	0	12823	838	29	4	712	4	PTEN	10	89717661	Nonsense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	72575649	89717661	45817086	24	53926											
CWF19L1	55280	broad.mit.edu	37	chr10	101996663	101996663	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctatctgctgctcctgtgCctgggtaatgaaggcatctt	6	14	10	11	0	3	1	0	1	3	0	4	1	4	1	2	2	3	4	2	2	3	3			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr10:101996663C>A	ENST00000354105.4	-	12	1404	c.1318G>T	c.(1318-1320)Gca>Tca	p.A440S	CWF19L1_ENST00000478047.1_5'UTR|CWF19L1_ENST00000370379.1_Intron	NM_018294.4	NP_060764.3	Q69YN2	C19L1_HUMAN	CWF19-like 1, cell cycle control (S. pombe)	440							catalytic activity			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|stomach(2)	17		Colorectal(252;0.117)		Epithelial(162;3.78e-10)|all cancers(201;3.1e-08)		TGCTCCTGTGCCTGGGTAATG	0.483													A	101996663	C	A	101996663	3	1	695	1	0	0	0	0	1	0	0	0	4104	739	26	4	310	4	CWF19L1	10	101996663	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	12279002	101996663	33538084	25	53927											
OR51B5	282763	broad.mit.edu	37	chr11	5364396	5364396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttgcagatggcaataaaaCggtcataggccatggcaagc	13	7	13	8	1	1	1	1	0	0	1	1	1	1	1	1	5	3	4	1	5	5	3			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:5364396C>T	ENST00000300773.2	-	1	413	c.359G>A	c.(358-360)cGt>cAt	p.R120H	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001005567.2	NP_001005567.2	Q9H339	O51B5_HUMAN	olfactory receptor, family 51, subfamily B, member 5	120					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	28		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;3.05e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGCAATAAAACGGTCATAGGC	0.473													T	5364396	C	T	5364396	3	4	695	1	0	0	0	0	1	0	0	0	11167	536	19	1	583	1	OR51B5	11	5364396	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		5364396	129642120	26	53928											
FERMT3	83706	broad.mit.edu	37	chr11	63988554	63988554	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgctggcagaggcccagctgCgcttcatccaggcctggcag	6	6	14	15	2	1	1	1	0	0	1	2	1	2	1	3	4	2	5	3	4	0	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr11:63988554C>T	ENST00000279227.5	+	13	1719	c.1624C>T	c.(1624-1626)Cgc>Tgc	p.R542C	FERMT3_ENST00000345728.5_Missense_Mutation_p.R538C	NM_178443.2	NP_848537.1	Q86UX7	URP2_HUMAN	fermitin family member 3	542	FERM.				integrin activation|leukocyte cell-cell adhesion|platelet aggregation|regulation of cell-cell adhesion mediated by integrin	cell junction|cell projection|podosome	integrin binding	p.R538C(1)|p.R542C(1)		breast(1)|cervix(1)|endometrium(4)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	18						GGCCCAGCTGCGCTTCATCCA	0.662													T	63988554	C	T	63988554	3	4	695	1	0	0	0	0	1	0	0	0	5868	768	27	1	1670	1	FERMT3	11	63988554	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08	58624158	63988554	71017962	27	53929											
GUCY2C	2984	broad.mit.edu	37	chr12	14804947	14804947	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccatcattgtgcttgagAtctttgagaatcactcgctg	9	15	8	9	1	3	2	2	2	1	2	4	4	3	2	1	0	2	2	1	0	2	4			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:14804947A>G	ENST00000261170.3	-	14	1687	c.1551T>C	c.(1549-1551)gaT>gaC	p.D517D		NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	517	Protein kinase.				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						TGTGCTTGAGATCTTTGAGAA	0.348													G	14804947	A	G	14804947	2	3	695	1	0	0	0	0	0	0	0	1	6951	330	12	3		3	GUCY2C	12	14804947	Silent	SNP	A	TCGA-S9-A6TW-01A-12D-A32B-08		14804947	119046948	28	53930											
PPM1H	57460	broad.mit.edu	37	chr12	63195840	63195840	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgtcctgcagctgctccGtgatgtggtgctgcagcagg	5	10	15	11	2	0	1	0	1	0	0	2	2	2	1	2	2	6	6	2	2	0	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr12:63195840G>A	ENST00000228705.6	-	3	812	c.512C>T	c.(511-513)aCg>aTg	p.T171M		NM_020700.1	NP_065751.1	Q9ULR3	PPM1H_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1H	171	PP2C-like.						phosphoprotein phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)	18			GBM - Glioblastoma multiforme(1;0.000443)|BRCA - Breast invasive adenocarcinoma(9;0.209)	GBM - Glioblastoma multiforme(28;0.0126)		CAGCTGCTCCGTGATGTGGTG	0.667													A	63195840	G	A	63195840	3	1	695	1	0	0	0	0	1	0	0	0	12423	1145	40	1	1064	1	PPM1H	12	63195840	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	48390893	63195840	70656055	29	53931											
ADCY4	196883	broad.mit.edu	37	chr14	24791834	24791834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagctgggtgacttacctggCgagccaggacaaggagggtg	9	6	18	8	1	0	1	0	1	0	0	0	5	0	3	2	5	3	1	2	5	2	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr14:24791834C>T	ENST00000310677.4	-	20	2536	c.2423G>A	c.(2422-2424)cGc>cAc	p.R808H	ADCY4_ENST00000554068.2_Missense_Mutation_p.R808H|ADCY4_ENST00000418030.2_Missense_Mutation_p.R808H	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	808					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		ACTTACCTGGCGAGCCAGGAC	0.557													T	24791834	C	T	24791834	3	4	695	1	0	0	0	0	1	0	0	0	296	768	27	1	838	1	ADCY4	14	24791834	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		24791834	82557706	30	53932											
THSD4	79875	broad.mit.edu	37	chr15	72020942	72020942	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaactgggcaattgatcGaccaggaaaatacgagggcg	13	6	15	7	3	0	1	0	1	0	0	1	5	0	3	1	4	2	1	1	4	5	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr15:72020942G>T	ENST00000355327.3	+	9	1546	c.1412G>T	c.(1411-1413)cGa>cTa	p.R471L	THSD4_ENST00000567838.1_3'UTR|THSD4_ENST00000357769.4_Missense_Mutation_p.R111L|THSD4_ENST00000261862.6_Missense_Mutation_p.R471L			Q6ZMP0	THSD4_HUMAN	thrombospondin, type I, domain containing 4	471						proteinaceous extracellular matrix	metalloendopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						GCAATTGATCGACCAGGAAAA	0.527													T	72020942	G	T	72020942	3	4	695	1	0	0	0	0	1	0	0	0	15978	1058	37	4	1442	4	THSD4	15	72020942	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		72020942	30510450	31	53933											
PPL	5493	broad.mit.edu	37	chr16	4934534	4934534	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccgcagctccacatcgatGctctcggcaaaggcgctcgc	7	7	11	16	5	1	0	0	0	1	0	5	1	2	0	2	2	3	5	2	2	1	0			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr16:4934534G>A	ENST00000345988.2	-	22	4211	c.4122C>T	c.(4120-4122)agC>agT	p.S1374S	PPL_ENST00000590782.2_Silent_p.S1372S	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1374					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						CCACATCGATGCTCTCGGCAA	0.677													A	4934534	G	A	4934534	2	1	695	1	0	0	0	0	0	0	0	1	12416	1310	46	2		2	PPL	16	4934534	Silent	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		4934534	85420219	32	53934											
MYH10	4628	broad.mit.edu	37	chr17	8526520	8526521	+	Frame_Shift_Del	DEL	AA	AA	-																															tagatgacagccctgtccacAaagagatacctctctggatc																										TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:8526520_8526521delAA	ENST00000360416.3	-	2	182_183	c.44_45delTT	c.(43-45)tttfs	p.F15fs	MYH10_ENST00000379980.4_Frame_Shift_Del_p.F15fs|MYH10_ENST00000396239.1_Frame_Shift_Del_p.F15fs|MYH10_ENST00000269243.4_Frame_Shift_Del_p.F15fs	NM_001256012.1	NP_001242941.1	P35580	MYH10_HUMAN	myosin, heavy chain 10, non-muscle	15	Myosin head-like.				actin filament-based movement|axon guidance|cytokinesis after mitosis|regulation of cell shape	cell cortex|cleavage furrow|midbody|myosin complex|stress fiber	actin filament binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|microfilament motor activity			breast(5)|endometrium(9)|kidney(2)|large_intestine(16)|lung(9)|ovary(3)|prostate(3)|skin(4)|stomach(1)	52						CCCTGTCCACAAAGAGATACCT	0.48													-	8526521	AA	-	8526520	7	5	695	1	0	1	0	1	0	0	0	0	10106	127	5	0	6045	0	MYH10	17	8526520	Frame_Shift_Del	DEL	AA	TCGA-S9-A6TW-01A-12D-A32B-08		8526520	72668690	33	53935											
CD300LD	100131439	broad.mit.edu	37	chr17	72576247	72576247	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaagtgggtgctcttgagcGgggacctgtgggaacacggt	7	8	19	7	2	1	1	0	1	1	0	1	4	1	4	1	6	3	1	1	6	2	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr17:72576247G>A	ENST00000375352.1	-	4	559	c.479C>T	c.(478-480)cCg>cTg	p.P160L		NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	160						integral to membrane|plasma membrane	receptor activity			large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCTCTTGAGCGGGGACCTGTG	0.572													A	72576247	G	A	72576247	3	1	695	1	0	0	0	0	1	0	0	0	3030	1116	39	1	109	1	CD300LD	17	72576247	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	64049727	72576247	8618963	34	53936											
THEG	51298	broad.mit.edu	37	chr19	367082	367082	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactggccaagtgaaggaggCggttatggtctgacacatgt	10	10	14	7	1	1	2	0	2	1	0	1	3	1	3	1	5	1	1	1	5	4	2			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:367082C>T	ENST00000342640.4	-	7	938	c.896G>A	c.(895-897)cGc>cAc	p.R299H	THEG_ENST00000346878.2_Missense_Mutation_p.R275H	NM_016585.4	NP_057669.1	Q9P2T0	THEG_HUMAN	theg spermatid protein	299					cell differentiation|chaperone-mediated protein complex assembly|multicellular organismal development|spermatogenesis	nucleus	protein binding			NS(1)|breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(2)|soft_tissue(1)	29		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		GTGAAGGAGGCGGTTATGGTC	0.572													T	367082	C	T	367082	3	4	695	1	0	0	0	0	1	0	0	0	15957	768	27	1	251	1	THEG	19	367082	Missense_Mutation	SNP	C	TCGA-S9-A6TW-01A-12D-A32B-08		367082	58761901	35	53937											
CIC	23152	broad.mit.edu	37	chr19	42791390	42791391	+	Frame_Shift_Ins	INS	-	-	G																															cagagagtgaccatgatgatINSgcgtgagttccctgaggcct																										TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:42791390_42791391insG	ENST00000572681.2	+	4	3245_3246	c.3177_3178insG	c.(3178-3180)gccfs	p.A1060fs	CIC_ENST00000575354.2_Frame_Shift_Ins_p.A151fs|CIC_ENST00000160740.3_Frame_Shift_Ins_p.A151fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	151	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ACCATGATGATGCGTGAGTTCC	0.649			"Mis, F, S"		oligodendroglioma								G	42791391	-	G	42791390	7	5	695	1	0	1	1	0	0	0	0	0	3454	1461	51	0	460	0	CIC	19	42791390	Frame_Shift_Ins	INS	-	TCGA-S9-A6TW-01A-12D-A32B-08	42424308	42791390	16337593	36	53938											
SIGLEC12	89858	broad.mit.edu	37	chr19	51995064	51995064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggggggctgtcatctgccGgggattcaatcaggggtccc	5	9	17	10	1	4	0	3	0	1	0	5	1	5	1	2	7	1	1	2	7	1	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:51995064G>A	ENST00000291707.3	-	8	1674	c.1619C>T	c.(1618-1620)cCg>cTg	p.P540L	SIGLEC12_ENST00000598614.1_Missense_Mutation_p.P422L	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)	540					cell adhesion	integral to membrane	sugar binding			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		GTCATCTGCCGGGGATTCAAT	0.622													A	51995064	G	A	51995064	3	1	695	1	0	0	0	0	1	0	0	0	14402	1116	39	1	172	1	SIGLEC12	19	51995064	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	9203674	51995064	7133919	37	53939											
ZNF175	7728	broad.mit.edu	37	chr19	52090031	52090031	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccgcacaaagaaagatgaGcaaaatcaaattcaacccat	20	5	6	10	1	2	3	2	1	0	2	2	4	2	3	2	0	2	2	2	0	6	1			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr19:52090031G>T	ENST00000262259.2	+	5	805	c.447G>T	c.(445-447)gaG>gaT	p.E149D	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	149					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		AGAAAGATGAGCAAAATCAAA	0.393													T	52090031	G	T	52090031	3	4	695	1	0	0	0	0	1	0	0	0	17846	962	34	4	461	4	ZNF175	19	52090031	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08	94967	52090031	7038952	38	53940											
PIGU	128869	broad.mit.edu	37	chr20	33225719	33225719	+	Frame_Shift_Del	DEL	G	G	-																															ggatgtaacgcatttccataGgggtccggatgagttcggcc																								rs142228998		TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chr20:33225719delG	ENST00000374820.2	-	4	349	c.329delC	c.(328-330)cctfs	p.P110fs	PIGU_ENST00000452740.2_Frame_Shift_Del_p.P130fs			Q9H490	PIGU_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class U	130					attachment of GPI anchor to protein|C-terminal protein lipidation|regulation of JAK-STAT cascade	GPI-anchor transamidase complex|plasma membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(1)|skin(1)	9						CATTTCCATAGGGGTCCGGAT	0.423													-	33225719	G	-	33225719	7	5	695	1	0	1	0	1	0	0	0	0	11977	1000	35	0	950	0	PIGU	20	33225719	Frame_Shift_Del	DEL	G	TCGA-S9-A6TW-01A-12D-A32B-08		33225719	29799801	39	53941											
BCORL1	63035	broad.mit.edu	37	chrX	129149824	129149824	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggaacttatattggacgtgGttccgagcagcaggaggggc	10	8	16	7	2	0	0	0	0	0	0	1	4	1	3	1	6	3	3	1	6	3	4			TCGA-S9-A6TW-01A-12D-A32B-08	TCGA-S9-A6TW-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	17f602fa-959f-4650-bcde-43821303d338	2ec5ceb4-e857-43a2-b7be-0e7a97a37804	g.chrX:129149824G>T	ENST00000540052.1	+	3	3120	c.3076G>T	c.(3076-3078)Gtt>Ttt	p.V1026F	BCORL1_ENST00000303743.5_Missense_Mutation_p.V1026F|BCORL1_ENST00000218147.7_Missense_Mutation_p.V1026F|BCORL1_ENST00000359304.2_Missense_Mutation_p.V1026F	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1026					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						ATTGGACGTGGTTCCGAGCAG	0.592													T	129149824	G	T	129149824	3	4	695	1	0	0	0	0	1	0	0	0	1392	1261	44	4	3086	4	BCORL1	23	129149824	Missense_Mutation	SNP	G	TCGA-S9-A6TW-01A-12D-A32B-08		129149824	26120736	40	53942											
RNF19B	127544	broad.mit.edu	37	chr1	33411115	33411115	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtcctgactagcttacCaacactaactgcagcaataa	13	10	7	11	0	0	1	0	1	0	0	1	1	1	1	2	1	6	3	2	1	6	4			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:33411115C>T	ENST00000356990.5	-	5	1260	c.1261G>A	c.(1261-1263)Ggt>Agt	p.G421S	RNF19B_ENST00000373456.7_Splice_Site_p.G422S|RNF19B_ENST00000235150.4_Splice_Site_p.G421S	NM_001127361.1	NP_001120833.1	Q6ZMZ0	RN19B_HUMAN	ring finger protein 19B	422						integral to membrane	ligase activity|protein binding|zinc ion binding	p.G231C(1)|p.G421C(1)		endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACTAGCTTACCAACACTAACT	0.463													T	33411115	C	T	33411115	5	4	696	1	0	0	0	0	0	0	1	0	13562	608	21	2	980	2	RNF19B	1	33411115	Splice_Site	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		33411115	215839506	1	53943											
ZMYND12	84217	broad.mit.edu	37	chr1	42905687	42905687	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attcttcagcctgaacgattCggcccagacctgcccaaaag	11	8	8	14	2	2	2	1	1	1	1	3	3	2	2	4	1	3	0	4	1	3	3			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:42905687C>T	ENST00000372565.3	-	4	703	c.434G>A	c.(433-435)cGa>cAa	p.R145Q	ZMYND12_ENST00000433602.2_Missense_Mutation_p.R35Q	NM_032257.4	NP_115633.3	Q9H0C1	ZMY12_HUMAN	zinc finger, MYND-type containing 12	145						intracellular	zinc ion binding			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|skin(2)	17	Ovarian(52;0.00744)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				CTGAACGATTCGGCCCAGACC	0.433													T	42905687	C	T	42905687	3	4	696	1	0	0	0	0	1	0	0	0	17808	884	31	1	683	1	ZMYND12	1	42905687	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	9494572	42905687	206344934	2	53944											
MED8	112950	broad.mit.edu	37	chr1	43850142	43850143	+	Frame_Shift_Ins	INS	-	-	T																															accagagctgcaggtgggcaINStttttttttccttcctggcc																										TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:43850142_43850143insT	ENST00000290663.6	-	8	927_928	c.884_885insA	c.(883-885)aatfs	p.N295fs	MED8_ENST00000372457.4_3'UTR	NM_052877.3	NP_443109.2	Q96G25	MED8_HUMAN	mediator complex subunit 8	0					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				endometrium(2)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	9	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				GCAGGTGGGCATTTTTTTTTCC	0.51													T	43850143	-	T	43850142	7	5	696	1	0	1	1	0	0	0	0	0	9528	214	8	0	24	0	MED8	1	43850142	Frame_Shift_Ins	INS	-	TCGA-S9-A6TX-01A-21D-A32B-08	944455	43850142	205400479	3	53945											
FUBP1	8880	broad.mit.edu	37	chr1	78425910	78425910	+	Frame_Shift_Del	DEL	T	T	-																															gctgccagtgtggatatgcaTttccccatccctggggagca																										TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:78425910delT	ENST00000370767.1	-	16	1622	c.1535delA	c.(1534-1536)aatfs	p.N512fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.N512fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.N533fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	512	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TGGATATGCATTTCCCCATCC	0.438			"F, N"		oligodendroglioma								-	78425910	T	-	78425910	7	5	696	1	0	1	0	1	0	0	0	0	6144	1493	52	0	419	0	FUBP1	1	78425910	Frame_Shift_Del	DEL	T	TCGA-S9-A6TX-01A-21D-A32B-08	34575768	78425910	170824711	4	53946											
HRNR	388697	broad.mit.edu	37	chr1	152188128	152188128	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcctgagcgagactctcGgtgacctaagccagaagagt	10	8	12	11	2	1	5	0	2	1	3	3	6	2	5	3	1	2	0	3	1	2	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:152188128G>A	ENST00000368801.2	-	3	6052	c.5977C>T	c.(5977-5979)Cga>Tga	p.R1993*	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1993					keratinization		calcium ion binding|protein binding			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CGAGACTCTCGGTGACCTAAG	0.572													A	152188128	G	A	152188128	4	1	696	1	0	0	0	0	0	1	0	0	7414	1124	39	1	2579	1	HRNR	1	152188128	Nonsense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	73762218	152188128	97062493	5	53947											
LY9	4063	broad.mit.edu	37	chr1	160788073	160788073	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttctgtgcgttgggAtcttcagctggtgcatttgg	3	17	13	8	1	3	0	1	0	2	0	3	1	3	1	1	3	4	3	1	3	0	5			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr1:160788073A>G	ENST00000368037.5	+	6	1522	c.1408A>G	c.(1408-1410)Atc>Gtc	p.I470V	LY9_ENST00000368040.1_Missense_Mutation_p.I122V|LY9_ENST00000392203.4_Missense_Mutation_p.I380V|LY9_ENST00000341032.4_Missense_Mutation_p.I380V|LY9_ENST00000368041.2_Missense_Mutation_p.I340V|LY9_ENST00000263285.6_Missense_Mutation_p.I470V	NM_001261456.1|NM_002348.3	NP_001248385.1|NP_002339.2	Q9HBG7	LY9_HUMAN	lymphocyte antigen 9						cell adhesion|immunoglobulin mediated immune response	integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			GTGCGTTGGGATCTTCAGCTG	0.478													G	160788073	A	G	160788073	3	3	696	1	0	0	0	0	1	0	0	0	9172	333	12	3	1562	3	LY9	1	160788073	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	8599945	160788073	88462548	6	53948											
NLRC4	58484	broad.mit.edu	37	chr2	32476004	32476004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccttgatcagcacttctCggatgagagcctgggcgctg	6	10	13	12	2	2	2	1	2	1	1	4	4	3	3	2	2	2	3	2	2	0	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:32476004C>T	ENST00000404025.2	-	5	1417	c.929G>A	c.(928-930)cGa>cAa	p.R310Q	NLRC4_ENST00000342905.6_Intron|NLRC4_ENST00000402280.1_Missense_Mutation_p.R310Q|NLRC4_ENST00000360906.5_Missense_Mutation_p.R310Q			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	310	NACHT.				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					CAGCACTTCTCGGATGAGAGC	0.532													T	32476004	C	T	32476004	3	4	696	1	0	0	0	0	1	0	0	0	10545	884	31	1	2169	1	NLRC4	2	32476004	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		32476004	210723369	7	53949											
NAT8	9027	broad.mit.edu	37	chr2	73868602	73868602	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagaccaggagtagggCgaggggccccccaagtaaga	12	3	15	11	1	0	2	0	0	0	2	1	5	1	3	5	4	0	2	5	4	3	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:73868602C>T	ENST00000272425.3	-	2	303	c.154G>A	c.(154-156)Gcc>Acc	p.A52T		NM_003960.3|NM_016347.2	NP_003951.3|NP_057431.2	Q9UHE5	NAT8_HUMAN	N-acetyltransferase 8 (GCN5-related, putative)	52					gastrulation with mouth forming second|response to drug	integral to membrane	N-acetyltransferase activity			breast(1)|endometrium(2)|kidney(2)|lung(2)|ovary(1)|prostate(1)	9						AGGAGTAGGGCGAGGGGCCCC	0.612													T	73868602	C	T	73868602	3	4	696	1	0	0	0	0	1	0	0	0	10255	768	27	1	533	1	NAT8	2	73868602	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	41392598	73868602	169330771	8	53950											
TTC30B	150737	broad.mit.edu	37	chr2	178417025	178417025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aacaacccaggttgatctggCcatcggtctcattctcgccc	8	10	8	15	2	3	1	1	1	3	0	6	1	3	1	3	3	2	1	3	3	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:178417025C>T	ENST00000408939.3	-	1	717	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GTTGATCTGGCCATCGGTCTC	0.592													T	178417025	C	T	178417025	3	4	696	1	0	0	0	0	1	0	0	0	16801	739	26	2	1534	2	TTC30B	2	178417025	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	104548423	178417025	64782348	9	53951											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	696	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	30696087	209113112	34086261	10	53952											
SP140L	93349	broad.mit.edu	37	chr2	231249985	231249985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtctcgagtgaaaagaaggcGaacatgaatctgaaagacct	16	7	11	7	2	2	5	0	3	2	2	3	7	2	5	1	1	1	0	1	1	6	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:231249985G>A	ENST00000243810.6	+	9	750	c.750G>A	c.(748-750)gcG>gcA	p.A250A	SP140L_ENST00000415673.2_Silent_p.A250A|SP140L_ENST00000396563.4_Silent_p.A250A|SP140L_ENST00000444636.1_Silent_p.A250A			Q9H930	LY10L_HUMAN	SP140 nuclear body protein-like	250						nucleus	DNA binding|metal ion binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|skin(1)	20						AAAAGAAGGCGAACATGAATC	0.448													A	231249985	G	A	231249985	2	1	696	1	0	0	0	0	0	0	0	1	15057	1045	37	1		1	SP140L	2	231249985	Silent	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	22136873	231249985	11949388	11	53953											
IQCA1	79781	broad.mit.edu	37	chr2	237240097	237240097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtttatgaatttgccgccGgattctctgatctgtgagca	8	14	11	8	2	2	3	0	3	2	0	3	4	2	4	2	2	2	2	2	2	2	4			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr2:237240097G>A	ENST00000409907.3	-	18	2552	c.2278C>T	c.(2278-2280)Cgg>Tgg	p.R760W	IQCA1_ENST00000309507.5_Missense_Mutation_p.R757W|IQCA1_ENST00000431676.2_Missense_Mutation_p.R719W	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	760							ATP binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						ATTTGCCGCCGGATTCTCTGA	0.473													A	237240097	G	A	237240097	3	1	696	1	0	0	0	0	1	0	0	0	7860	1115	39	1	198	1	IQCA1	2	237240097	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	5990112	237240097	5959276	12	53954											
CTNNB1	1499	broad.mit.edu	37	chr3	41268826	41268826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtctgctctagtaataagcCggctattgtagaagctggta	10	13	11	7	1	2	1	0	0	2	1	2	1	2	1	1	2	3	6	1	2	7	7			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr3:41268826C>T	ENST00000349496.5	+	7	1344	c.1064C>T	c.(1063-1065)cCg>cTg	p.P355L	CTNNB1_ENST00000453024.1_Missense_Mutation_p.P348L|CTNNB1_ENST00000396185.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000396183.3_Missense_Mutation_p.P355L|CTNNB1_ENST00000405570.1_Missense_Mutation_p.P355L	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	355					adherens junction assembly|androgen receptor signaling pathway|branching involved in ureteric bud morphogenesis|canonical Wnt receptor signaling pathway involved in negative regulation of apoptosis|canonical Wnt receptor signaling pathway involved in positive regulation of epithelial to mesenchymal transition|cell-cell adhesion|cell-matrix adhesion|cellular component disassembly involved in apoptosis|cellular response to growth factor stimulus|cellular response to indole-3-methanol|central nervous system vasculogenesis|cytoskeletal anchoring at plasma membrane|determination of dorsal/ventral asymmetry|dorsal/ventral axis specification|ectoderm development|embryonic axis specification|embryonic foregut morphogenesis|embryonic leg joint morphogenesis|endodermal cell fate commitment|endothelial tube morphogenesis|epithelial to mesenchymal transition|gastrulation with mouth forming second|glial cell fate determination|hair follicle morphogenesis|hair follicle placode formation|hindbrain development|liver development|lung cell differentiation|lung induction|lung-associated mesenchyme development|male genitalia development|mesenchymal cell proliferation involved in lung development|mesenchymal to epithelial transition involved in metanephros morphogenesis|negative regulation of cell proliferation|negative regulation of chondrocyte differentiation|negative regulation of heart induction by canonical Wnt receptor signaling pathway|negative regulation of osteoclast differentiation|negative regulation of transcription from RNA polymerase II promoter|nephron tubule formation|odontogenesis of dentine-containing tooth|oocyte development|pancreas development|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of branching involved in lung morphogenesis|positive regulation of epithelial cell proliferation involved in prostate gland development|positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of heparan sulfate proteoglycan biosynthetic process|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of MAPKKK cascade|positive regulation of muscle cell differentiation|positive regulation of osteoblast differentiation|positive regulation of transcription from RNA polymerase II promoter|protein localization at cell surface|proximal/distal pattern formation|regulation of angiogenesis|regulation of calcium ion import|regulation of centriole-centriole cohesion|regulation of centromeric sister chromatid cohesion|regulation of fibroblast proliferation|regulation of nephron tubule epithelial cell differentiation|regulation of protein localization at cell surface|regulation of smooth muscle cell proliferation|regulation of T cell proliferation|renal inner medulla development|renal outer medulla development|renal vesicle formation|response to drug|response to estradiol stimulus|Schwann cell proliferation|smooth muscle cell differentiation|synapse organization|synaptic vesicle transport|T cell differentiation in thymus|thymus development|trachea formation	APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin-TCF7L2 complex|catenin complex|cell cortex|cell-substrate adherens junction|centrosome|dendritic shaft|desmosome|fascia adherens|internal side of plasma membrane|lamellipodium|lateral plasma membrane|microvillus membrane|perinuclear region of cytoplasm|protein-DNA complex|synapse|transcription factor complex|Z disc|zonula adherens	alpha-catenin binding|androgen receptor binding|cadherin binding|estrogen receptor binding|I-SMAD binding|ion channel binding|protein binding|protein C-terminus binding|protein kinase binding|protein phosphatase binding|R-SMAD binding|RPTP-like protein binding|signal transducer activity|specific RNA polymerase II transcription factor activity|structural molecule activity|transcription coactivator activity|transcription regulatory region DNA binding		CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)	Lithium(DB01356)	AGTAATAAGCCGGCTATTGTA	0.378		15	"H, Mis, T"	PLAG1	"colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"				Pilomatrixoma, Familial Clustering of				T	41268826	C	T	41268826	3	4	696	1	0	0	0	0	1	0	0	0	4049	652	23	1	1086	1	CTNNB1	3	41268826	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		41268826	156753604	13	53955											
ATP8A1	10396	broad.mit.edu	37	chr4	42524203	42524203	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aatcaactcataactctcttCgagtttgagtagcctgttct	10	15	6	10	1	4	1	2	1	2	0	6	2	4	1	1	0	3	3	1	0	4	5			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:42524203C>T	ENST00000381668.5	-	22	2152	c.1921G>A	c.(1921-1923)Gaa>Aaa	p.E641K	ATP8A1_ENST00000264449.10_Missense_Mutation_p.E626K	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	641					ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	TAACTCTCTTCGAGTTTGAGT	0.428													T	42524203	C	T	42524203	3	4	696	1	0	0	0	0	1	0	0	0	1197	893	31	1	1637	1	ATP8A1	4	42524203	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		42524203	148630073	14	53956											
ANKRD17	26057	broad.mit.edu	37	chr4	74000833	74000833	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctcttaagtttgggacttaCctgtgcatcaatatcaatgg	10	15	8	8	0	3	0	2	0	1	0	4	1	3	1	1	2	2	2	1	2	5	4			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:74000833C>T	ENST00000358602.4	-	16	3351		c.e16+1		ANKRD17_ENST00000509867.2_Splice_Site|ANKRD17_ENST00000514252.1_Splice_Site|ANKRD17_ENST00000330838.6_Splice_Site	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17						interspecies interaction between organisms	cytoplasm|nucleus	RNA binding			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTGGGACTTACCTGTGCATCA	0.393													T	74000833	C	T	74000833	5	4	696	1	0	0	0	0	0	0	1	0	646	521	18	2	4652	2	ANKRD17	4	74000833	Splice_Site	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	31476630	74000833	117153443	15	53957											
RAP1GDS1	5910	broad.mit.edu	37	chr4	99338034	99338034	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcatggttttattacttcTtggaggtgagttgtaattta	8	20	9	4	0	2	1	1	1	2	0	3	2	2	2	0	3	1	3	0	3	4	9			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr4:99338034T>C	ENST00000408927.3	+	8	1015	c.902T>C	c.(901-903)cTt>cCt	p.L301P	RAP1GDS1_ENST00000339360.5_Missense_Mutation_p.L302P|RAP1GDS1_ENST00000264572.7_Missense_Mutation_p.L210P|RAP1GDS1_ENST00000408900.3_Missense_Mutation_p.L252P|RAP1GDS1_ENST00000380158.4_Missense_Mutation_p.L253P|RAP1GDS1_ENST00000453712.2_Missense_Mutation_p.L302P	NM_001100426.1|NM_001100427.1|NM_021159.4	NP_001093896.1|NP_001093897.1|NP_066982.3	P52306	GDS1_HUMAN	RAP1, GTP-GDP dissociation stimulator 1	301							binding|GTPase activator activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)	28				OV - Ovarian serous cystadenocarcinoma(123;2.9e-07)|LUSC - Lung squamous cell carcinoma(1;0.0253)|Lung(1;0.0576)		TTATTACTTCTTGGAGGTGAG	0.348			T	NUP98	T-ALL								C	99338034	T	C	99338034	3	2	696	1	0	0	0	0	1	0	0	0	13127	1609	56	3	935	3	RAP1GDS1	4	99338034	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	25337201	99338034	91816242	16	53958											
KIF13A	63971	broad.mit.edu	37	chr6	17852203	17852203	+	Frame_Shift_Del	DEL	C	C	-																															tacctcaaaactagtgacagCtagttgagataaaccatcta																										TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:17852203delC	ENST00000378814.5	-	7	564	c.565delG	c.(565-567)gctfs	p.A189fs	KIF13A_ENST00000378843.2_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378816.5_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000259711.6_Frame_Shift_Del_p.A189fs|KIF13A_ENST00000378826.2_Frame_Shift_Del_p.A189fs	NM_001105568.2	NP_001099038.1	Q9H1H9	KI13A_HUMAN	kinesin family member 13A	189	Kinesin-motor.				cargo loading into vesicle|cell cycle|cytokinesis|endosome to lysosome transport|Golgi to plasma membrane protein transport|melanosome organization|plus-end-directed vesicle transport along microtubule	centrosome|endosome membrane|microtubule|midbody|trans-Golgi network membrane	ATP binding|microtubule motor activity|protein binding			breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	64	Breast(50;0.0107)|Ovarian(93;0.016)	all_hematologic(90;0.125)	all cancers(50;0.0865)|Epithelial(50;0.0974)			CTAGTGACAGCTAGTTGAGAT	0.333													-	17852203	C	-	17852203	7	5	696	1	0	1	0	1	0	0	0	0	8332	797	28	0	5009	0	KIF13A	6	17852203	Frame_Shift_Del	DEL	C	TCGA-S9-A6TX-01A-21D-A32B-08		17852203	153262864	17	53959											
GSTA1	2938	broad.mit.edu	37	chr6	52656723	52656723	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggaggcttccttgggctgCcaggctgtagaaacttcttc	6	12	13	10	0	1	1	0	0	1	1	3	2	2	2	2	4	2	4	2	4	2	5			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr6:52656723C>T	ENST00000334575.5	-	7	757	c.602G>A	c.(601-603)gGc>gAc	p.G201D	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	201	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	CCTTGGGCTGCCAGGCTGTAG	0.468													T	52656723	C	T	52656723	3	4	696	1	0	0	0	0	1	0	0	0	6885	739	26	2	70	2	GSTA1	6	52656723	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	34804520	52656723	118458344	18	53960											
HOXA9	3205	broad.mit.edu	37	chr7	27204770	27204770	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgcatgtacctgccgtccgGcgccgccgccgccacgggcg	3	4	15	19	9	0	0	0	0	0	0	1	0	1	0	7	2	2	2	7	2	1	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:27204770G>C	ENST00000343483.6	-	1	379	c.307C>G	c.(307-309)Ccg>Gcg	p.P103A	HOXA9_ENST00000396345.1_Missense_Mutation_p.P103A|RP1-170O19.20_ENST00000470747.4_Intron|HOXA9_ENST00000497089.1_Intron|RP1-170O19.20_ENST00000465941.1_Intron	NM_152739.3	NP_689952.1	P31269	HXA9_HUMAN	homeobox A9	103							protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(1)|lung(5)|prostate(1)	8						CTGCCGTCCGGCGCCGCCGCC	0.711			T	"NUP98, MSI2"	AML*								C	27204770	G	C	27204770	3	2	696	1	0	0	0	0	1	0	0	0	7353	1203	42	4	519	4	HOXA9	7	27204770	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08		27204770	131933893	19	53961											
SAMD9	54809	broad.mit.edu	37	chr7	92730801	92730801	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catattctatatataaacaaTtgttttcagctcgaccttgt	12	17	4	8	1	2	0	1	0	1	0	3	1	2	0	1	0	2	2	1	0	7	10			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:92730801T>C	ENST00000379958.2	-	3	4879	c.4610A>G	c.(4609-4611)aAt>aGt	p.N1537S		NM_001193307.1|NM_017654.3	NP_001180236.1|NP_060124.2	Q5K651	SAMD9_HUMAN	sterile alpha motif domain containing 9	1537						cytoplasm				NS(1)|breast(4)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(20)|lung(32)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	88	all_cancers(62;5.71e-11)|all_epithelial(64;3.25e-10)|Breast(17;0.000675)|Lung NSC(181;0.0969)|all_lung(186;0.125)		STAD - Stomach adenocarcinoma(171;0.000302)			ATATAAACAATTGTTTTCAGC	0.383													C	92730801	T	C	92730801	3	2	696	1	0	0	0	0	1	0	0	0	13917	1493	52	3	163	3	SAMD9	7	92730801	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	65526031	92730801	66407862	20	53962											
GRM8	2918	broad.mit.edu	37	chr7	126079206	126079206	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgtaactgatatatgtTgtcttggtagaggaagctgt	9	16	12	4	0	1	2	0	1	1	1	1	3	1	3	0	2	3	5	0	2	5	7			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:126079206T>C	ENST00000339582.2	-	11	3502	c.2694A>G	c.(2692-2694)acA>acG	p.T898T	GRM8_ENST00000444921.2_Silent_p.T898T|GRM8_ENST00000358373.3_3'UTR			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	898					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	TGATATATGTTGTCTTGGTAG	0.308										HNSCC(24;0.065)			C	126079206	T	C	126079206	2	2	696	1	0	0	0	0	0	0	0	1	6858	1799	63	3		3	GRM8	7	126079206	Silent	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	33348405	126079206	33059457	21	53963											
KEL	3792	broad.mit.edu	37	chr7	142639988	142639988	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcgatggctagccccccaaCgtctgcagcattctctaaga	9	8	9	15	3	2	1	0	0	2	1	3	2	2	1	3	1	4	3	3	1	3	3			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr7:142639988C>T	ENST00000355265.2	-	17	2389	c.1915G>A	c.(1915-1917)Gtt>Att	p.V639I		NM_000420.2	NP_000411.1	P23276	KELL_HUMAN	Kell blood group, metallo-endopeptidase	639					proteolysis|vasoconstriction	integral to membrane|plasma membrane	metal ion binding|metalloendopeptidase activity|protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(34)|ovary(3)|prostate(2)|skin(1)	60	Melanoma(164;0.059)					AGCCCCCCAACGTCTGCAGCA	0.507													T	142639988	C	T	142639988	3	4	696	1	0	0	0	0	1	0	0	0	8200	536	19	1	295	1	KEL	7	142639988	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	16560782	142639988	16498675	22	53964											
PPP2R2A	5520	broad.mit.edu	37	chr8	26196411	26196411	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtctcaattatacagcagatAtaatttctacagtagaattt	15	15	5	6	0	2	2	1	0	2	2	3	2	2	2	0	0	3	2	0	0	8	8			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:26196411A>G	ENST00000380737.3	+	3	417	c.88A>G	c.(88-90)Ata>Gta	p.I30V	PPP2R2A_ENST00000315985.7_Missense_Mutation_p.I40V|PPP2R2A_ENST00000523473.1_3'UTR	NM_002717.3	NP_002708.1			protein phosphatase 2, regulatory subunit B, alpha											kidney(1)|large_intestine(2)|ovary(1)	4		all_cancers(63;0.086)|Ovarian(32;2.61e-05)|all_epithelial(46;0.0514)|Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.000754)|Epithelial(17;3.02e-15)|all cancers(2;1.52e-13)|OV - Ovarian serous cystadenocarcinoma(2;1.89e-10)|Colorectal(74;0.155)		TACAGCAGATATAATTTCTAC	0.353													G	26196411	A	G	26196411	3	3	696	1	0	0	0	0	1	0	0	0	12466	449	16	3	139	3	PPP2R2A	8	26196411	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		26196411	120167611	23	53965											
INTS9	55756	broad.mit.edu	37	chr8	28628505	28628505	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagcaccccctacctgaagCaagtgcttgttatctttggt	8	12	8	13	0	1	1	0	1	1	0	1	1	1	1	4	1	4	4	4	1	4	4			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:28628505C>A	ENST00000416984.2	-	14	1952	c.1593G>T	c.(1591-1593)ttG>ttT	p.L531F	INTS9_ENST00000521022.1_Missense_Mutation_p.L552F|INTS9_ENST00000521777.1_Missense_Mutation_p.L528F|INTS9_ENST00000397363.4_Missense_Mutation_p.L446F	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN	integrator complex subunit 9	552					snRNA processing	integrator complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		CTACCTGAAGCAAGTGCTTGT	0.532													A	28628505	C	A	28628505	3	1	696	1	0	0	0	0	1	0	0	0	7843	709	25	4	332	4	INTS9	8	28628505	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	2432094	28628505	117735517	24	53966											
KLHL38	340359	broad.mit.edu	37	chr8	124664296	124664296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctggctgtccttccttcCgcccaagaggatgaggaaat	8	10	11	12	1	0	2	0	1	0	1	3	4	3	4	4	3	1	2	4	3	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr8:124664296C>T	ENST00000325995.7	-	1	894	c.871G>A	c.(871-873)Gga>Aga	p.G291R	CTD-2552K11.2_ENST00000524355.1_RNA	NM_001081675.2	NP_001075144.2	Q2WGJ6	KLH38_HUMAN	kelch-like family member 38	291										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(16)|pancreas(1)|prostate(3)|stomach(1)	38						TCCTTCCTTCCGCCCAAGAGG	0.542													T	124664296	C	T	124664296	3	4	696	1	0	0	0	0	1	0	0	0	8448	661	23	1	886	1	KLHL38	8	124664296	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	96035791	124664296	21699726	25	53967											
MYO3A	53904	broad.mit.edu	37	chr10	26377303	26377303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacagatttctgaatatctcCtggaaaaatcccgagttatc	13	12	6	10	1	2	2	0	1	2	1	5	4	3	3	2	1	0	1	2	1	5	3			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr10:26377303C>T	ENST00000265944.5	+	15	1697	c.1531C>T	c.(1531-1533)Ctg>Ttg	p.L511L	MYO3A_ENST00000543632.1_Silent_p.L511L	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	511	Myosin head-like.				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						TGAATATCTCCTGGAAAAATC	0.343													T	26377303	C	T	26377303	2	4	696	1	0	0	0	0	0	0	0	1	10152	680	24	2		2	MYO3A	10	26377303	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		26377303	109157444	26	53968											
TNKS1BP1	85456	broad.mit.edu	37	chr11	57087848	57087848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgggcggaaaggggcaggggCcttccgtacaccccctgggg	6	5	18	12	2	0	0	0	0	0	0	1	1	1	1	4	8	1	2	4	8	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:57087848C>T	ENST00000532437.1	-	2	744	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	TNKS1BP1_ENST00000358252.3_Missense_Mutation_p.A145T			Q9C0C2	TB182_HUMAN	tankyrase 1 binding protein 1, 182kDa	145	Pro-rich.				nuclear-transcribed mRNA poly(A) tail shortening|telomere maintenance via telomerase	cytoskeleton|cytosol|nuclear telomeric heterochromatin	ankyrin binding|enzyme binding			breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(24)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	64		all_epithelial(135;0.21)				GGGGCAGGGGCCTTCCGTACA	0.647													T	57087848	C	T	57087848	3	4	696	1	0	0	0	0	1	0	0	0	16420	739	26	2	4792	2	TNKS1BP1	11	57087848	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		57087848	77918668	27	53969											
SSH3	54961	broad.mit.edu	37	chr11	67077742	67077742	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaacctccgaggggtcatgAggtccatcagtcttctggag	9	10	12	10	1	4	1	2	1	2	0	6	3	6	2	3	4	1	0	3	4	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67077742A>G	ENST00000308127.4	+	13	1793	c.1615A>G	c.(1615-1617)Agg>Ggg	p.R539G	SSH3_ENST00000308298.7_Intron|SSH3_ENST00000376757.5_3'UTR	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	539					regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			AGGGGTCATGAGGTCCATCAG	0.617													G	67077742	A	G	67077742	3	3	696	1	0	0	0	0	1	0	0	0	15282	295	11	3	1665	3	SSH3	11	67077742	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	9989894	67077742	67928774	28	53970											
ALDH3B2	222	broad.mit.edu	37	chr11	67433014	67433014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagcagaaccaggccacgcGgttggccacggtctgggggt	7	6	17	11	3	1	1	0	0	1	1	1	1	1	1	3	6	2	3	3	6	2	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr11:67433014G>A	ENST00000349015.3	-	7	886	c.448C>T	c.(448-450)Cgc>Tgc	p.R150C	ALDH3B2_ENST00000530069.1_Missense_Mutation_p.R150C	NM_000695.3	NP_000686	P48448	AL3B2_HUMAN	aldehyde dehydrogenase 3 family, member B2	150					alcohol metabolic process|cellular aldehyde metabolic process|lipid metabolic process		3-chloroallyl aldehyde dehydrogenase activity|aldehyde dehydrogenase	p.R150C(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|prostate(2)|stomach(1)|urinary_tract(1)	18					NADH(DB00157)	CAGGCCACGCGGTTGGCCACG	0.667													A	67433014	G	A	67433014	3	1	696	1	0	0	0	0	1	0	0	0	500	1116	39	1	725	1	ALDH3B2	11	67433014	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	355272	67433014	67573502	29	53971											
OAS3	4940	broad.mit.edu	37	chr12	113403651	113403651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcactgagcagggcaacaagCgggccgagatcatctccgag	11	5	13	12	3	3	2	2	1	1	1	4	4	3	2	2	2	3	2	2	2	2	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr12:113403651C>T	ENST00000228928.7	+	12	2685	c.2506C>T	c.(2506-2508)Cgg>Tgg	p.R836W	RP1-71H24.1_ENST00000552784.1_RNA	NM_006187.2	NP_006178.2	Q9Y6K5	OAS3_HUMAN	2'-5'-oligoadenylate synthetase 3, 100kDa	836	OAS domain 3.				interferon-gamma-mediated signaling pathway|nucleobase, nucleoside, nucleotide and nucleic acid metabolic process|type I interferon-mediated signaling pathway	microsome	ATP binding|nucleotidyltransferase activity|RNA binding			breast(3)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|skin(2)	27						GGGCAACAAGCGGGCCGAGAT	0.592													T	113403651	C	T	113403651	3	4	696	1	0	0	0	0	1	0	0	0	10877	759	27	1	2552	1	OAS3	12	113403651	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		113403651	20448244	30	53972											
OXGR1	27199	broad.mit.edu	37	chr13	97639064	97639064	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccgcttactttgcatctcActgttgagcagacagcctgc	7	12	8	14	1	1	2	1	1	1	1	3	2	2	2	2	0	5	4	2	0	1	3			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr13:97639064A>C	ENST00000298440.1	-	4	1193	c.950T>G	c.(949-951)gTg>gGg	p.V317G	OXGR1_ENST00000543457.1_Missense_Mutation_p.V317G	NM_080818.3	NP_543008.3	Q96P68	OXGR1_HUMAN	oxoglutarate (alpha-ketoglutarate) receptor 1	317						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			NS(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15	all_neural(89;0.0982)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.186)			TTTGCATCTCACTGTTGAGCA	0.398													C	97639064	A	C	97639064	3	2	696	1	0	0	0	0	1	0	0	0	11408	159	6	5	67	5	OXGR1	13	97639064	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		97639064	17530814	31	53973											
PAK6	56924	broad.mit.edu	37	chr15	40564858	40564858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagaagcactcgggccGccaggtggccgtcaagatga	9	4	16	12	4	1	3	1	1	0	2	2	4	1	3	4	4	1	1	4	4	2	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr15:40564858G>A	ENST00000455577.2	+	6	2204	c.1292G>A	c.(1291-1293)cGc>cAc	p.R431H	PAK6_ENST00000542403.2_Missense_Mutation_p.R431H|PAK6_ENST00000560346.1_Missense_Mutation_p.R431H|RP11-133K1.2_ENST00000558658.1_3'UTR|PAK6_ENST00000441369.1_Missense_Mutation_p.R431H|PAK6_ENST00000260404.4_Missense_Mutation_p.R431H|PAK6_ENST00000453867.1_Missense_Mutation_p.R431H	NM_001276718.1	NP_001263647.1	Q9NQU5	PAK6_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 6	431	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|cervix(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(2)	24		all_cancers(109;1.13e-18)|all_epithelial(112;1.62e-15)|Lung NSC(122;5.67e-11)|all_lung(180;1.41e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0823)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.51e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0544)		CACTCGGGCCGCCAGGTGGCC	0.662													A	40564858	G	A	40564858	3	1	696	1	0	0	0	0	1	0	0	0	11480	1087	38	1	1302	1	PAK6	15	40564858	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08		40564858	61966534	32	53974											
TMC5	79838	broad.mit.edu	37	chr16	19505646	19505646	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcaggatatggagaagaaAgcaaaccccagctcacttgt	14	7	10	10	0	1	2	1	0	0	2	1	4	1	3	2	2	4	3	2	2	4	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:19505646A>C	ENST00000396229.2	+	20	3638	c.2889A>C	c.(2887-2889)aaA>aaC	p.K963N	TMC5_ENST00000219821.5_Missense_Mutation_p.K717N|TMC5_ENST00000381414.4_Missense_Mutation_p.K905N|TMC5_ENST00000541464.1_Missense_Mutation_p.K911N|TMC5_ENST00000542583.2_Missense_Mutation_p.K963N|TMC5_ENST00000561503.1_Missense_Mutation_p.K604N|TMC5_ENST00000564959.1_Missense_Mutation_p.K646N	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	963						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGAGAAGAAAGCAAACCCCA	0.458													C	19505646	A	C	19505646	3	2	696	1	0	0	0	0	1	0	0	0	16088	69	3	5	3273	5	TMC5	16	19505646	Missense_Mutation	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08		19505646	70849107	33	53975											
DNAH3	55567	broad.mit.edu	37	chr16	21145636	21145636	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttcaccgtgtgcagatgCtcctcgttccacttcttggc	4	13	11	13	2	2	1	1	0	1	1	5	1	4	1	3	2	2	4	3	2	0	4			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:21145636C>T	ENST00000261383.3	-	7	1025	c.1026G>A	c.(1024-1026)gaG>gaA	p.E342E	DNAH3_ENST00000415178.1_Silent_p.E342E	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	342	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TGTGCAGATGCTCCTCGTTCC	0.517													T	21145636	C	T	21145636	2	4	696	1	0	0	0	0	0	0	0	1	4642	796	28	2		2	DNAH3	16	21145636	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	1639990	21145636	69209117	34	53976											
RABEP2	79874	broad.mit.edu	37	chr16	28925751	28925751	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaagggagaaggaggagaTggaggcgctgtcatcgcagt	11	5	18	7	2	1	2	1	0	0	2	2	6	1	4	1	5	0	2	1	5	2	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:28925751T>C	ENST00000358201.4	-	5	1288	c.700A>G	c.(700-702)Atc>Gtc	p.I234V	RABEP2_ENST00000544477.1_Missense_Mutation_p.I163V|RABEP2_ENST00000357573.6_Missense_Mutation_p.I234V	NM_024816.2	NP_079092.2	Q9H5N1	RABE2_HUMAN	rabaptin, RAB GTPase binding effector protein 2	234					endocytosis|protein transport	early endosome	growth factor activity|GTPase activator activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	16						AAGGAGGAGATGGAGGCGCTG	0.682													C	28925751	T	C	28925751	3	2	696	1	0	0	0	0	1	0	0	0	13050	1464	51	3	1045	3	RABEP2	16	28925751	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	7780115	28925751	61429002	35	53977											
KIAA0895L	653319	broad.mit.edu	37	chr16	67211953	67211953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggaaatcgatggtctggCgatgtcgcagaatgcgcacg	10	7	15	9	6	1	1	0	0	1	1	3	4	1	2	0	3	1	2	0	3	2	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:67211953C>T	ENST00000290881.7	-	7	2137	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	KIAA0895L_ENST00000563831.2_Intron|KIAA0895L_ENST00000563902.1_Missense_Mutation_p.R404H|KIAA0895L_ENST00000561621.1_Missense_Mutation_p.A401T			Q68EN5	K895L_HUMAN	KIAA0895-like	404										breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|skin(1)	17						GATGGTCTGGCGATGTCGCAG	0.632													T	67211953	C	T	67211953	3	4	696	1	0	0	0	0	1	0	0	0	8256	768	27	1	212	1	KIAA0895L	16	67211953	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08	38286202	67211953	23142800	36	53978											
CDH13	1012	broad.mit.edu	37	chr16	82892059	82892059	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagccagctgaattcattgaGgaccagtcaattctaaactg	13	10	8	10	0	3	2	2	2	1	0	3	3	3	3	2	1	3	1	2	1	4	4			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr16:82892059G>A	ENST00000566620.1	+	2	428	c.138G>A	c.(136-138)gaG>gaA	p.E46E	CDH13_ENST00000268613.10_Silent_p.E93E|CDH13_ENST00000446376.2_Silent_p.E46E|CDH13_ENST00000565636.1_Silent_p.E46E|CDH13_ENST00000567445.1_Silent_p.E46E|CDH13_ENST00000428848.3_Silent_p.E46E|CDH13_ENST00000431540.3_Silent_p.E46E	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	46					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)		AATTCATTGAGGACCAGTCAA	0.393													A	82892059	G	A	82892059	2	1	696	1	0	0	0	0	0	0	0	1	3129	991	35	2		2	CDH13	16	82892059	Silent	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	15680106	82892059	7462694	37	53979											
WDR81	124997	broad.mit.edu	37	chr17	1636832	1636832	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctatccaggtgacatcatcCggaaaatcatccccaaccac	13	7	5	16	1	2	1	2	1	0	0	5	2	5	2	6	2	1	0	6	2	4	1			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:1636832C>T	ENST00000409644.1	+	7	4501	c.4501C>T	c.(4501-4503)Cgg>Tgg	p.R1501W	WDR81_ENST00000309182.5_Missense_Mutation_p.R450W|WDR81_ENST00000545662.1_Missense_Mutation_p.R132W|WDR81_ENST00000419248.1_Missense_Mutation_p.R274W|WDR81_ENST00000446363.1_Missense_Mutation_p.R140W|WDR81_ENST00000437219.2_Missense_Mutation_p.R298W|RP11-961A15.1_ENST00000576540.1_RNA	NM_001163809.1	NP_001157281.1	B3KXU1	B3KXU1_HUMAN	WD repeat domain 81	274										cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGACATCATCCGGAAAATCAT	0.612													T	1636832	C	T	1636832	3	4	696	1	0	0	0	0	1	0	0	0	17432	643	23	1	4589	1	WDR81	17	1636832	Missense_Mutation	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		1636832	79558378	38	53980											
CHRNB1	1140	broad.mit.edu	37	chr17	7350230	7350230	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcatcacggcggaatccGtgtggctccctgacgtggtg	5	9	14	13	5	1	1	1	1	0	0	4	2	4	2	3	4	0	2	3	4	1	0			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:7350230G>C	ENST00000306071.2	+	4	389	c.322G>C	c.(322-324)Gtg>Ctg	p.V108L	CHRNB1_ENST00000576360.1_Missense_Mutation_p.V36L|CHRNB1_ENST00000536404.2_Missense_Mutation_p.V36L	NM_000747.2	NP_000738.2	P11230	ACHB_HUMAN	cholinergic receptor, nicotinic, beta 1 (muscle)	108					behavioral response to nicotine|muscle contraction|muscle fiber development|neuromuscular synaptic transmission|postsynaptic membrane organization|regulation of membrane potential|synaptic transmission, cholinergic	cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine binding|receptor activity			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|ovary(3)	23		Prostate(122;0.157)				GGCGGAATCCGTGTGGCTCCC	0.677													C	7350230	G	C	7350230	3	2	696	1	0	0	0	0	1	0	0	0	3420	1145	40	4	336	4	CHRNB1	17	7350230	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	5713398	7350230	73844980	39	53981											
TMUB2	79089	broad.mit.edu	37	chr17	42268191	42268191	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccctggtgggagtcaccGtcttcttcagcttcctagta	5	14	9	13	1	5	0	2	0	3	0	7	1	6	1	3	2	1	2	3	2	2	5	rs139203660		TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr17:42268191G>A	ENST00000319511.6	+	3	1515	c.865G>A	c.(865-867)Gtc>Atc	p.V289I	TMUB2_ENST00000587989.1_Missense_Mutation_p.V309I|TMUB2_ENST00000538716.2_Missense_Mutation_p.V309I|TMUB2_ENST00000589184.1_3'UTR|TMUB2_ENST00000590235.1_3'UTR|TMUB2_ENST00000592825.1_3'UTR|TMUB2_ENST00000357984.3_Missense_Mutation_p.V289I|TMUB2_ENST00000446571.3_Missense_Mutation_p.V252I|TMUB2_ENST00000587172.1_3'UTR|TMUB2_ENST00000589785.1_Missense_Mutation_p.V289I	NM_177441.2	NP_803190.2	Q71RG4	TMUB2_HUMAN	transmembrane and ubiquitin-like domain containing 2	309						integral to membrane				endometrium(2)|kidney(2)|large_intestine(1)|lung(3)	8		Breast(137;0.00765)|Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.113)		GGGAGTCACCGTCTTCTTCAG	0.498													A	42268191	G	A	42268191	3	1	696	1	0	0	0	0	1	0	0	0	16365	1145	40	1	935	1	TMUB2	17	42268191	Missense_Mutation	SNP	G	TCGA-S9-A6TX-01A-21D-A32B-08	34917961	42268191	38927019	40	53982											
C3	718	broad.mit.edu	37	chr19	6697472	6697472	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacatatggaacggacaaCgaggacttgggggggatggt	12	7	17	5	2	0	1	0	1	0	0	0	6	0	5	0	7	2	0	0	7	3	2			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:6697472C>T	ENST00000245907.6	-	21	2771	c.2679G>A	c.(2677-2679)tcG>tcA	p.S893S		NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	893					complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GAACGGACAACGAGGACTTGG	0.572													T	6697472	C	T	6697472	2	4	696	1	0	0	0	0	0	0	0	1	2225	523	19	1		1	C3	19	6697472	Silent	SNP	C	TCGA-S9-A6TX-01A-21D-A32B-08		6697472	52431511	41	53983											
ZNF285	26974	broad.mit.edu	37	chr19	44890648	44890648	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacatttataatgtttctcTctgctcatgtagtctttgat	8	20	5	8	0	4	1	1	1	3	0	5	1	4	1	0	0	2	3	0	0	4	7			TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:44890648T>C	ENST00000330997.4	-	4	1823	c.1759A>G	c.(1759-1761)Aga>Gga	p.R587G	ZNF285_ENST00000591679.1_Missense_Mutation_p.R594G|ZNF285_ENST00000544719.2_Missense_Mutation_p.R587G|CTC-512J12.6_ENST00000588212.1_Intron	NM_152354.3	NP_689567.3			zinc finger protein 285											breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|prostate(5)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	44						AATGTTTCTCTCTGCTCATGT	0.433													C	44890648	T	C	44890648	3	2	696	1	0	0	0	0	1	0	0	0	17923	1559	54	3	17	3	ZNF285	19	44890648	Missense_Mutation	SNP	T	TCGA-S9-A6TX-01A-21D-A32B-08	38193176	44890648	14238335	42	53984											
NLRP9	338321	broad.mit.edu	37	chr19	56223200	56223200	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggcacagtccgggtggctcaAtgcctcacacagcaccacca	10	5	10	16	1	2	0	2	0	0	0	3	0	3	0	4	3	2	3	4	3	1	0	rs149437621	byFrequency	TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chr19:56223200A>G	ENST00000332836.2	-	8	2836	c.2809T>C	c.(2809-2811)Ttg>Ctg	p.L937L		NM_176820.2	NP_789790.2	Q7RTR0	NALP9_HUMAN	NLR family, pyrin domain containing 9	937						cytoplasm	ATP binding			NS(2)|breast(5)|cervix(1)|endometrium(7)|kidney(8)|large_intestine(15)|lung(21)|ovary(2)|prostate(3)|skin(7)|urinary_tract(3)	74		Colorectal(82;0.000133)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.123)		GGGTGGCTCAATGCCTCACAC	0.562													G	56223200	A	G	56223200	2	3	696	1	0	0	0	0	0	0	0	1	10560	98	4	3		3	NLRP9	19	56223200	Silent	SNP	A	TCGA-S9-A6TX-01A-21D-A32B-08	11332552	56223200	2905783	43	53985											
ZBTB33	10009	broad.mit.edu	37	chrX	119389238	119389239	+	Frame_Shift_Del	DEL	TG	TG	-																															gattcaatttttaaacaaaaTgtaacagatggcagtactga																										TCGA-S9-A6TX-01A-21D-A32B-08	TCGA-S9-A6TX-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	021bf1e7-5402-4760-8483-90da0f9656f7	c3c498b4-dc24-4a01-979b-e3a01156d4ee	g.chrX:119389238_119389239delTG	ENST00000326624.2	+	2	2196_2197	c.1968_1969delTG	c.(1966-1971)aatgtafs	p.V657fs	ZBTB33_ENST00000557385.1_Frame_Shift_Del_p.V657fs	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	657	Interaction with CTNND1 (By similarity).				intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						TTAAACAAAATGTAACAGATGG	0.361													-	119389239	TG	-	119389238	7	5	696	1	0	1	0	1	0	0	0	0	17637	1461	51	0	1970	0	ZBTB33	23	119389238	Frame_Shift_Del	DEL	TG	TCGA-S9-A6TX-01A-21D-A32B-08		119389238	35881322	44	53986											
PIAS3	10401	broad.mit.edu	37	chr1	145584147	145584147	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctccagtacagcccagTccaggggggagatccatcag	10	5	13	13	0	1	1	1	0	0	1	4	2	4	1	5	4	2	1	5	4	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:145584147T>C	ENST00000393045.2	+	11	1388	c.1298T>C	c.(1297-1299)gTc>gCc	p.V433A	PIAS3_ENST00000369298.1_Missense_Mutation_p.V398A	NM_006099.3	NP_006090.2	Q9Y6X2	PIAS3_HUMAN	protein inhibitor of activated STAT, 3	433					positive regulation of protein sumoylation|protein sumoylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck	enzyme binding|nucleic acid binding|protein C-terminus binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)	28	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					TACAGCCCAGTCCAGGGGGGA	0.498													C	145584147	T	C	145584147	3	2	697	1	0	0	0	0	1	0	0	0	11954	1667	58	3	1340	3	PIAS3	1	145584147	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		145584147	103666474	1	53987											
FAM129A	116496	broad.mit.edu	37	chr1	184853821	184853821	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggcactaaacctcttctggtCagcagcctcgtggaagcaga	10	8	11	12	1	3	1	1	0	2	1	4	2	3	2	2	3	4	3	2	3	3	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr1:184853821C>G	ENST00000367511.3	-	5	740	c.547G>C	c.(547-549)Gac>Cac	p.D183H		NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	183					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						CTCTTCTGGTCAGCAGCCTCG	0.597													G	184853821	C	G	184853821	3	3	697	1	0	0	0	0	1	0	0	0	5481	826	29	4	2279	4	FAM129A	1	184853821	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	39269674	184853821	64396800	2	53988											
PROM2	150696	broad.mit.edu	37	chr2	95940490	95940490	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggcccggtggctggcccctCgagttcgtgcgccaggactc	3	7	16	15	4	0	0	0	0	0	0	3	2	0	1	4	5	1	2	4	5	0	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:95940490C>T	ENST00000317620.9	+	1	290	c.157C>T	c.(157-159)Cga>Tga	p.R53*	PROM2_ENST00000463580.1_3'UTR|PROM2_ENST00000542147.1_Nonsense_Mutation_p.R53*|PROM2_ENST00000317668.4_Nonsense_Mutation_p.R53*|PROM2_ENST00000403131.2_Nonsense_Mutation_p.R53*	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	53						apical plasma membrane|basolateral plasma membrane|cilium membrane|integral to membrane|microvillus membrane				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GCTGGCCCCTCGAGTTCGTGC	0.657													T	95940490	C	T	95940490	4	4	697	1	0	0	0	0	0	1	0	0	12642	876	31	1	159	1	PROM2	2	95940490	Nonsense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		95940490	147258883	3	53989											
DNER	92737	broad.mit.edu	37	chr2	230453157	230453157	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggataccaggcggccaccCgcagagctgttagaactggc	11	5	13	12	2	0	2	0	0	0	2	0	3	0	3	3	4	3	3	3	4	4	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:230453157C>T	ENST00000341772.4	-	3	767	c.633G>A	c.(631-633)gcG>gcA	p.A211A		NM_139072.3	NP_620711.3	Q8NFT8	DNER_HUMAN	delta/notch-like EGF repeat containing	211					central nervous system development|endocytosis|neuron migration|Notch signaling pathway|synapse assembly	dendrite|early endosome|integral to membrane|plasma membrane	calcium ion binding|clathrin binding|transmembrane receptor activity			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	63		all_lung(227;0.00413)|Renal(207;0.0113)|Lung NSC(271;0.0211)|all_hematologic(139;0.105)|Acute lymphoblastic leukemia(138;0.175)		Epithelial(121;1.4e-11)|all cancers(144;7.7e-09)|LUSC - Lung squamous cell carcinoma(224;0.034)|Lung(119;0.0375)		GGCGGCCACCCGCAGAGCTGT	0.428													T	230453157	C	T	230453157	2	4	697	1	0	0	0	0	0	0	0	1	4706	639	23	1		1	DNER	2	230453157	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	134512667	230453157	12746216	4	53990											
ATG4B	23192	broad.mit.edu	37	chr2	242594751	242594755	+	Frame_Shift_Del	DEL	GTCCT	GTCCT	-																															ggcccaacactgtcgcccagGtcctgaagtatgtactgcgc																										TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr2:242594751_242594755delGTCCT	ENST00000405546.3	+	6	953_957	c.451_455delGTCCT	c.(451-456)gtcctgfs	p.VL151fs	ATG4B_ENST00000402096.1_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000396411.3_Frame_Shift_Del_p.VL77fs|ATG4B_ENST00000404914.3_Frame_Shift_Del_p.VL151fs|ATG4B_ENST00000474739.2_Frame_Shift_Del_p.VL137fs			Q9Y4P1	ATG4B_HUMAN	autophagy related 4B, cysteine peptidase	151					autophagic vacuole assembly|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity|protein binding			breast(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.44e-33)|all cancers(36;5.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.75e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0848)		TGTCGCCCAGGTCCTGAAGTATGTA	0.546													-	242594755	GTCCT	-	242594751	7	5	697	1	0	1	0	1	0	0	0	0	1102	1261	44	0	473	0	ATG4B	2	242594751	Frame_Shift_Del	DEL	GTCCT	TCGA-S9-A6TY-01A-12D-A32B-08	12141594	242594751	604622	5	53991											
C3orf30	152405	broad.mit.edu	37	chr3	118865135	118865135	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaagggccaggaagaagaCgaccagaagaaccaggccga	17	1	13	10	2	0	4	0	0	0	4	0	7	0	5	4	3	1	0	4	3	5	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:118865135C>T	ENST00000295622.1	+	1	139	c.99C>T	c.(97-99)gaC>gaT	p.D33D		NM_152539.2	NP_689752.2	Q96M34	CC030_HUMAN	chromosome 3 open reading frame 30	33										NS(1)|breast(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(20)|ovary(2)|prostate(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(114;0.222)		AGGAAGAAGACGACCAGAAGA	0.552													T	118865135	C	T	118865135	2	4	697	1	0	0	0	0	0	0	0	1	2241	535	19	1		1	C3orf30	3	118865135	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		118865135	79157295	6	53992											
NLGN1	22871	broad.mit.edu	37	chr3	173997179	173997179	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggctttgtttacggaccAtcagtgggtggcaccagctg	7	11	13	10	1	1	0	1	0	0	0	1	1	1	1	2	4	2	4	2	4	1	3			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr3:173997179A>G	ENST00000457714.1	+	6	1817	c.1388A>G	c.(1387-1389)cAt>cGt	p.H463R	NLGN1_ENST00000401917.3_Missense_Mutation_p.H503R|NLGN1_ENST00000545397.1_Missense_Mutation_p.H463R|NLGN1_ENST00000361589.4_Missense_Mutation_p.H463R	NM_014932.2	NP_055747.1	Q8N2Q7	NLGN1_HUMAN	neuroligin 1	480					calcium-dependent cell-cell adhesion|neuron cell-cell adhesion|neuronal signal transduction|positive regulation of dendritic spine development|positive regulation of excitatory postsynaptic membrane potential|positive regulation of intracellular protein kinase cascade|positive regulation of synaptogenesis|protein targeting|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|regulation of N-methyl-D-aspartate selective glutamate receptor activity|synapse assembly|synaptic vesicle targeting	cell junction|cell surface|dendrite|integral to plasma membrane|postsynaptic density|postsynaptic membrane	cell adhesion molecule binding|neurexin binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(2)|lung(54)|ovary(1)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	83	Ovarian(172;0.0025)		LUSC - Lung squamous cell carcinoma(14;5.36e-13)|Lung(28;9.49e-13)			TTTACGGACCATCAGTGGGTG	0.448													G	173997179	A	G	173997179	3	3	697	1	0	0	0	0	1	0	0	0	10537	217	8	3	1402	3	NLGN1	3	173997179	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	55132044	173997179	24025251	7	53993											
SPRY4	81848	broad.mit.edu	37	chr5	141693866	141693866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgcagcggcaaccagggcGgcgcagacggtcgtagccac	8	4	15	14	5	0	1	0	0	0	1	1	1	0	1	2	4	4	4	2	4	2	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr5:141693866G>A	ENST00000344120.4	-	3	1063	c.877C>T	c.(877-879)Cgc>Tgc	p.R293C	SPRY4_ENST00000434127.2_Missense_Mutation_p.R270C	NM_030964.3	NP_112226.2	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	270					multicellular organismal development	cytoplasm|ruffle membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAACCAGGGCGGCGCAGACGG	0.642									Testicular Cancer, Familial Clustering of				A	141693866	G	A	141693866	3	1	697	1	0	0	0	0	1	0	0	0	15204	1116	39	1	95	1	SPRY4	5	141693866	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		141693866	39221394	8	53994											
CACNA2D1	781	broad.mit.edu	37	chr7	81964495	81964495	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaagtttctcaatatcccTggctgcaatttctaccagct	10	13	6	12	0	2	1	1	0	2	1	4	1	3	1	2	1	3	4	2	1	5	4			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr7:81964495T>C	ENST00000356860.3	-	3	588	c.250A>G	c.(250-252)Agg>Ggg	p.R84G	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.R84G|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.R84G	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	84						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	TCAATATCCCTGGCTGCAATT	0.333													C	81964495	T	C	81964495	3	2	697	1	0	0	0	0	1	0	0	0	2574	1579	55	3	3173	3	CACNA2D1	7	81964495	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		81964495	77174168	9	53995											
HNF4G	3174	broad.mit.edu	37	chr8	76470774	76470774	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacaactatgttattcaccGcaacagctgtgaagttgaga	15	10	8	8	1	1	2	1	2	0	1	1	3	1	2	1	0	4	4	1	0	6	4			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr8:76470774G>A	ENST00000396423.2	+	7	849	c.725G>A	c.(724-726)cGc>cAc	p.R242H	HNF4G_ENST00000354370.1_Missense_Mutation_p.R205H	NM_004133.4	NP_004124.4	Q14541	HNF4G_HUMAN	hepatocyte nuclear factor 4, gamma	205					endocrine pancreas development|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	37	Breast(64;0.0448)		BRCA - Breast invasive adenocarcinoma(89;0.161)			GTTATTCACCGCAACAGCTGT	0.378													A	76470774	G	A	76470774	3	1	697	1	0	0	0	0	1	0	0	0	7309	1087	38	1	751	1	HNF4G	8	76470774	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		76470774	69893248	10	53996											
CA9	768	broad.mit.edu	37	chr9	35676353	35676353	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacgaggccttggggcgcccGggaggcctggccgtgttggc	3	6	20	12	4	0	0	0	0	0	0	0	3	0	1	4	7	0	1	4	7	0	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:35676353G>A	ENST00000378357.4	+	5	911	c.807G>A	c.(805-807)ccG>ccA	p.P269P	CA9_ENST00000493245.1_Intron	NM_001216.2	NP_001207.2	Q16790	CAH9_HUMAN	carbonic anhydrase IX	269	Catalytic.				one-carbon metabolic process	integral to membrane|microvillus membrane|nucleolus	carbonate dehydratase activity|zinc ion binding			kidney(1)|large_intestine(3)|lung(5)|ovary(4)|prostate(1)|skin(2)|urinary_tract(1)	17	all_epithelial(49;0.217)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TGGGGCGCCCGGGAGGCCTGG	0.637													A	35676353	G	A	35676353	2	1	697	1	0	0	0	0	0	0	0	1	2550	1103	39	1		1	CA9	9	35676353	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		35676353	105537078	11	53997											
SVEP1	79987	broad.mit.edu	37	chr9	113171073	113171073	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttcatgaagccattctggatCgggggaggttttccacagtc	8	12	12	9	1	2	1	1	1	1	0	5	3	3	3	2	4	1	1	2	4	1	4			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:113171073C>T	ENST00000401783.2	-	38	7143	c.6807G>A	c.(6805-6807)ccG>ccA	p.P2269P	SVEP1_ENST00000374469.1_Silent_p.P2246P|SVEP1_ENST00000297826.5_Silent_p.P195P	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2269	Sushi 15.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding	p.P2272P(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						CATTCTGGATCGGGGGAGGTT	0.478													T	113171073	C	T	113171073	2	4	697	1	0	0	0	0	0	0	0	1	15516	871	31	1		1	SVEP1	9	113171073	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	77494720	113171073	28042358	12	53998											
BRD3	8019	broad.mit.edu	37	chr9	136915518	136915518	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgacgacaggcggcgtaggaGggaccacggggacgatgggt	9	4	20	8	5	0	1	0	1	0	0	0	6	0	4	1	7	0	1	1	7	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr9:136915518G>C	ENST00000303407.7	-	5	877	c.692C>G	c.(691-693)cCt>cGt	p.P231R	BRD3_ENST00000371834.2_Missense_Mutation_p.P231R|BRD3_ENST00000357885.2_Missense_Mutation_p.P231R	NM_007371.3	NP_031397.1	Q15059	BRD3_HUMAN	bromodomain containing 3	231						nucleus	protein binding		BRD3/C15orf55(3)	kidney(1)|skin(1)|stomach(4)	6				OV - Ovarian serous cystadenocarcinoma(145;1.43e-08)|Epithelial(140;8.41e-08)|all cancers(34;5.21e-07)		CGGCGTAGGAGGGACCACGGG	0.687			T	C15orf55	lethal midline carcinoma of young people								C	136915518	G	C	136915518	3	2	697	1	0	0	0	0	1	0	0	0	1512	1000	35	4	1520	4	BRD3	9	136915518	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08	23744445	136915518	4297913	13	53999											
FAM171A1	221061	broad.mit.edu	37	chr10	15255062	15255062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggctgctggctccgaggggGcatccgcagtccgtctggtc	3	9	16	13	3	1	0	0	0	1	0	5	1	4	0	3	5	1	5	3	5	0	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:15255062G>A	ENST00000378116.4	-	8	2531	c.2525C>T	c.(2524-2526)gCc>gTc	p.A842V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	842						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CTCCGAGGGGGCATCCGCAGT	0.617													A	15255062	G	A	15255062	3	1	697	1	0	0	0	0	1	0	0	0	5535	1203	42	2	151	2	FAM171A1	10	15255062	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		15255062	120279685	14	54000											
SIRT1	23411	broad.mit.edu	37	chr10	69669183	69669183	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccctcaaagtaagaccAgtagcactaattccaagtaa	15	10	5	11	0	2	1	1	0	1	1	4	1	4	1	3	0	1	4	3	0	6	6			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr10:69669183A>G	ENST00000212015.6	+	7	1394	c.1341A>G	c.(1339-1341)ccA>ccG	p.P447P	SIRT1_ENST00000403579.1_Silent_p.P144P|SIRT1_ENST00000432464.1_Silent_p.P152P|SIRT1_ENST00000406900.1_Silent_p.P144P	NM_012238.4	NP_036370.2	Q96EB6	SIRT1_HUMAN	sirtuin 1	447	Deacetylase sirtuin-type.				apoptosis|cell aging|cellular response to hydrogen peroxide|cellular response to starvation|chromatin silencing at rDNA|DNA repair|DNA replication|establishment of chromatin silencing|histone H3 deacetylation|interspecies interaction between organisms|maintenance of chromatin silencing|muscle organ development|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of fat cell differentiation|negative regulation of helicase activity|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|peptidyl-lysine acetylation|peptidyl-lysine deacetylation|positive regulation of anti-apoptosis|positive regulation of chromatin silencing|positive regulation of DNA repair|regulation of apoptosis|regulation of cell proliferation|regulation of endodeoxyribonuclease activity|regulation of protein import into nucleus, translocation|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|rRNA processing|transcription, DNA-dependent|triglyceride mobilization|white fat cell differentiation	chromatin silencing complex|cytoplasm|nuclear euchromatin|nuclear heterochromatin|nuclear inner membrane|nucleolus|PML body|rDNA heterochromatin	bHLH transcription factor binding|histone binding|HLH domain binding|identical protein binding|mitogen-activated protein kinase binding|NAD+ binding|NAD-dependent histone deacetylase activity (H3-K9 specific)|p53 binding|protein C-terminus binding|transcription corepressor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(3)|skin(1)	14						AAGTAAGACCAGTAGCACTAA	0.368													G	69669183	A	G	69669183	2	3	697	1	0	0	0	0	0	0	0	1	14431	175	7	3		3	SIRT1	10	69669183	Silent	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	54414121	69669183	65865564	15	54001											
OR5L1	219437	broad.mit.edu	37	chr11	55579400	55579400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctgctacttctgtgggaCggtgtgttctctgattcatt	4	18	11	8	1	3	1	1	1	2	0	4	2	3	2	0	2	3	3	0	2	1	6	rs144467940	by1000genomes	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:55579400C>T	ENST00000333973.2	+	1	547	c.458C>T	c.(457-459)aCg>aTg	p.T153M		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TTCTGTGGGACGGTGTGTTCT	0.453													T	55579400	C	T	55579400	3	4	697	1	0	0	0	0	1	0	0	0	11246	536	19	1	460	1	OR5L1	11	55579400	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		55579400	79427116	16	54002											
OR5T1	390155	broad.mit.edu	37	chr11	56043676	56043676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggatccaatgaaattaggCatgtcttttgtaatatgcct	11	15	9	6	0	1	1	0	1	1	0	2	2	2	2	2	2	1	2	2	2	5	5			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:56043676C>T	ENST00000313033.2	+	1	648	c.562C>T	c.(562-564)Cat>Tat	p.H188Y		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	188					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.H188D(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TGAAATTAGGCATGTCTTTTG	0.408													T	56043676	C	T	56043676	3	4	697	1	0	0	0	0	1	0	0	0	11257	710	25	2	564	2	OR5T1	11	56043676	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	464276	56043676	78962840	17	54003											
AHNAK	79026	broad.mit.edu	37	chr11	62287084	62287084	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttcaccaccttctaacttCggacctgaaaatccaatttt	12	13	3	13	1	2	1	1	1	1	0	4	2	3	2	4	1	1	0	4	1	4	6	rs149805243		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62287084C>T	ENST00000378024.4	-	5	15079	c.14805G>A	c.(14803-14805)ccG>ccA	p.P4935P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	4935					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTTCTAACTTCGGACCTGAAA	0.458													T	62287084	C	T	62287084	2	4	697	1	0	0	0	0	0	0	0	1	414	871	31	1		1	AHNAK	11	62287084	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	6243408	62287084	72719432	18	54004											
GANAB	23193	broad.mit.edu	37	chr11	62401811	62401811	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggttcttgatcttatcccaTatgctaccaagcgtgagatt	10	14	8	9	1	2	2	0	2	2	1	3	3	3	2	2	1	3	2	2	1	4	6			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:62401811T>C	ENST00000346178.4	-	6	612	c.597A>G	c.(595-597)atA>atG	p.I199M	GANAB_ENST00000534779.1_Missense_Mutation_p.I85M|GANAB_ENST00000540933.1_Intron|GANAB_ENST00000356638.3_Intron|GANAB_ENST00000534422.1_Intron	NM_001278192.1|NM_198335.2	NP_001265121.1|NP_938149.2	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	187					post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|Golgi apparatus|melanosome	carbohydrate binding|glucan 1,3-alpha-glucosidase activity|protein binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35						TCTTATCCCATATGCTACCAA	0.478													C	62401811	T	C	62401811	3	2	697	1	0	0	0	0	1	0	0	0	6287	1396	49	3	2383	3	GANAB	11	62401811	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08	114727	62401811	72604705	19	54005											
CBL	867	broad.mit.edu	37	chr11	119077233	119077235	+	In_Frame_Del	DEL	CAC	CAC	-																															tgaaggacgccttccagccgCaccaccaccaccaccaccac																										TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr11:119077233_119077235delCAC	ENST00000264033.4	+	1	482_484	c.106_108delCAC	c.(106-108)cacdel	p.H42del		NM_005188.3	NP_005179.2	P22681	CBL_HUMAN	Cbl proto-oncogene, E3 ubiquitin protein ligase	42					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of receptor-mediated endocytosis	cytosol|nucleus	calcium ion binding|sequence-specific DNA binding transcription factor activity|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(194)|kidney(3)|large_intestine(9)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	251		Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.92e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.000784)		CTTCCAGCCGcaccaccaccacc	0.675			"T, Mis S, O"	MLL	"AML, JMML, MDS"				Noonan syndrome;CBL gene-associated Juvenile Myelomonocytic Leukemia and Developmental Anomalies				-	119077235	CAC	-	119077233	7	5	697	1	0	1	0	1	0	0	0	0	2726	710	25	0	108	0	CBL	11	119077233	In_Frame_Del	DEL	CAC	TCGA-S9-A6TY-01A-12D-A32B-08	56675422	119077233	15929283	20	54006											
APAF1	317	broad.mit.edu	37	chr12	99097198	99097198	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaatccacacgggccAtcacagcaccatccagtact	13	5	9	14	1	1	1	1	0	0	1	3	2	3	1	4	2	2	2	4	2	2	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr12:99097198A>G	ENST00000550527.1	+	17	2490	c.2483A>G	c.(2482-2484)cAt>cGt	p.H828R	APAF1_ENST00000552268.1_Intron|APAF1_ENST00000549007.1_Intron|APAF1_ENST00000357310.1_Intron|APAF1_ENST00000339433.3_Intron|APAF1_ENST00000547045.1_Intron|APAF1_ENST00000551964.1_Missense_Mutation_p.H839R|APAF1_ENST00000359972.2_Intron|APAF1_ENST00000333991.1_Intron			O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	839					activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CACACGGGCCATCACAGCACC	0.408													G	99097198	A	G	99097198	3	3	697	1	0	0	0	0	1	0	0	0	757	217	8	3	2582	3	APAF1	12	99097198	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08		99097198	34754697	21	54007											
F10	2159	broad.mit.edu	37	chr13	113803380	113803380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccttccgcatgaacgtggCgcctgcctgcctccccgagc	5	7	10	19	4	0	1	0	1	0	0	2	2	2	1	7	1	4	1	7	1	1	1			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr13:113803380C>T	ENST00000375559.3	+	8	1054	c.1016C>T	c.(1015-1017)gCg>gTg	p.A339V	F10_ENST00000409306.1_3'UTR|F10_ENST00000375551.3_3'UTR	NM_000504.3	NP_000495.1	P00742	FA10_HUMAN	coagulation factor X	339	Peptidase S1.				blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|positive regulation of cell migration|positive regulation of protein kinase B signaling cascade|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen	calcium ion binding|phospholipid binding|protein binding|serine-type endopeptidase activity			endometrium(2)|large_intestine(4)|lung(10)|pancreas(1)|stomach(1)	18	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.113)|all_lung(25;0.0364)|all_epithelial(44;0.0373)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0805)|Epithelial(84;0.231)		Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Enoxaparin(DB01225)|Heparin(DB01109)|Menadione(DB00170)|Reteplase(DB00015)|Tenecteplase(DB00031)	ATGAACGTGGCGCCTGCCTGC	0.637													T	113803380	C	T	113803380	3	4	697	1	0	0	0	0	1	0	0	0	5378	768	27	1	1046	1	F10	13	113803380	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		113803380	1366498	22	54008											
WDHD1	11169	broad.mit.edu	37	chr14	55467292	55467292	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tagatttccttccgcatcagTatacgatattcgaccacaag	12	12	6	11	3	1	1	1	0	0	1	4	3	3	1	3	0	1	2	3	0	5	7			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:55467292T>C	ENST00000360586.3	-	10	936	c.871A>G	c.(871-873)Act>Gct	p.T291A	WDHD1_ENST00000420358.2_Missense_Mutation_p.T168A|WDHD1_ENST00000421192.1_Missense_Mutation_p.T168A	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	291						cytoplasm|nucleoplasm	DNA binding			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						TCCGCATCAGTATACGATATT	0.393													C	55467292	T	C	55467292	3	2	697	1	0	0	0	0	1	0	0	0	17373	1638	57	3	2586	3	WDHD1	14	55467292	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		55467292	51882248	23	54009											
RDH12	145226	broad.mit.edu	37	chr14	68192802	68192802	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catattctgatcaacaatgcGggagtaatgatgtgtccata	13	12	9	7	1	2	2	1	2	1	0	3	3	3	3	1	1	2	1	1	1	5	4			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr14:68192802G>A	ENST00000551171.1	+	6	702	c.378G>A	c.(376-378)gcG>gcA	p.A126A	RDH12_ENST00000267502.3_Silent_p.A126A|RDH12_ENST00000539142.1_Silent_p.A126A	NM_152443.2	NP_689656.2	Q96NR8	RDH12_HUMAN	retinol dehydrogenase 12 (all-trans/9-cis/11-cis)	126			A -> V (in RP53).		photoreceptor cell maintenance|response to stimulus|retinol metabolic process	intracellular	binding|retinol dehydrogenase activity			large_intestine(3)|lung(3)|ovary(1)|prostate(1)|skin(4)	12				all cancers(60;0.000704)|OV - Ovarian serous cystadenocarcinoma(108;0.00161)|BRCA - Breast invasive adenocarcinoma(234;0.00953)	Vitamin A(DB00162)	TCAACAATGCGGGAGTAATGA	0.463													A	68192802	G	A	68192802	2	1	697	1	0	0	0	0	0	0	0	1	13279	1103	39	1		1	RDH12	14	68192802	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08	12725510	68192802	39156738	24	54010											
THBS1	7057	broad.mit.edu	37	chr15	39885372	39885372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccctaactgggttgtacGccatcagggtaaagaactcg	11	9	11	10	2	1	2	1	1	0	1	2	2	1	2	2	2	3	3	2	2	5	4			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:39885372G>A	ENST00000260356.5	+	18	3104	c.2939G>A	c.(2938-2940)cGc>cAc	p.R980H		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	980	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	TGGGTTGTACGCCATCAGGGT	0.493													A	39885372	G	A	39885372	3	1	697	1	0	0	0	0	1	0	0	0	15953	1087	38	1	3005	1	THBS1	15	39885372	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		39885372	62646020	25	54011											
ZFYVE19	84936	broad.mit.edu	37	chr15	41105573	41105573	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcccagacagtgatgaCgacgaggatgaggagacagc	12	4	14	11	3	0	5	0	3	0	2	1	9	1	6	2	2	1	0	2	2	0	0			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:41105573C>T	ENST00000355341.4	+	8	1569	c.1068C>T	c.(1066-1068)gaC>gaT	p.D356D	ZFYVE19_ENST00000299173.10_Silent_p.D288D|ZFYVE19_ENST00000570108.1_Silent_p.D333D|ZFYVE19_ENST00000336455.5_Silent_p.D346D|ZFYVE19_ENST00000564258.1_Silent_p.D181D	NM_001077268.1	NP_001070736.1	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	356							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		ACAGTGATGACGACGAGGATG	0.587													T	41105573	C	T	41105573	2	4	697	1	0	0	0	0	0	0	0	1	17766	535	19	1		1	ZFYVE19	15	41105573	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	1220201	41105573	61425819	26	54012											
DUOX1	53905	broad.mit.edu	37	chr15	45433222	45433222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtccttgaacaatttgtgCggctacgggatggtgaccgc	7	11	13	10	4	0	2	0	2	0	0	2	3	1	3	2	3	3	1	2	3	3	3			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:45433222C>T	ENST00000321429.4	+	14	1926	c.1519C>T	c.(1519-1521)Cgg>Tgg	p.R507W	DUOX1_ENST00000561166.1_Missense_Mutation_p.R153W|DUOX1_ENST00000389037.3_Missense_Mutation_p.R507W	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	507	Peroxidase-like; mediates peroxidase activity.				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		ACAATTTGTGCGGCTACGGGA	0.622													T	45433222	C	T	45433222	3	4	697	1	0	0	0	0	1	0	0	0	4839	759	27	1	1565	1	DUOX1	15	45433222	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	4327649	45433222	57098170	27	54013											
GLDN	342035	broad.mit.edu	37	chr15	51696848	51696848	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacttcccagtctgttcttgCcatgttagcatacaacatga	11	13	6	11	0	2	1	0	1	2	0	3	1	3	1	2	0	5	3	2	0	4	5			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:51696848C>T	ENST00000335449.6	+	10	1609	c.1553C>T	c.(1552-1554)gCc>gTc	p.A518V	GLDN_ENST00000396399.2_Missense_Mutation_p.A394V	NM_181789.2	NP_861454.2	Q6ZMI3	GLDN_HUMAN	gliomedin	518	Olfactomedin-like.				cell differentiation|nervous system development	collagen|integral to membrane|plasma membrane				central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19				all cancers(107;0.00194)|GBM - Glioblastoma multiforme(94;0.00942)		TCTGTTCTTGCCATGTTAGCA	0.378													T	51696848	C	T	51696848	3	4	697	1	0	0	0	0	1	0	0	0	6490	739	26	2	1591	2	GLDN	15	51696848	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	6263626	51696848	50834544	28	54014											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	697	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	38934990	90631838	11899554	29	54015											
USP7	7874	broad.mit.edu	37	chr16	8988966	8988966	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgccactgtgacaagcatCtcattctctttgtctatgtc	7	15	7	12	1	3	1	1	1	3	0	6	1	3	1	1	0	2	1	1	0	2	3			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr16:8988966C>T	ENST00000344836.4	-	28	3159	c.2961G>A	c.(2959-2961)gaG>gaA	p.E987E	USP7_ENST00000535863.1_Silent_p.E888E|USP7_ENST00000381886.4_Silent_p.E971E	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	987					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TGACAAGCATCTCATTCTCTT	0.498													T	8988966	C	T	8988966	2	4	697	1	0	0	0	0	0	0	0	1	17190	912	32	2		2	USP7	16	8988966	Silent	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08		8988966	81365787	30	54016											
DNAH2	146754	broad.mit.edu	37	chr17	7663154	7663154	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttggcaggtgtggtcaatGacattggcaaccacctcttt	8	13	10	10	0	2	1	1	1	1	0	2	1	2	1	2	4	1	2	2	4	2	3			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr17:7663154G>A	ENST00000572933.1	+	17	4143	c.2683G>A	c.(2683-2685)Gac>Aac	p.D895N	DNAH2_ENST00000389173.2_Missense_Mutation_p.D895N			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	895	Stem (By similarity).				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGTGGTCAATGACATTGGCAA	0.507													A	7663154	G	A	7663154	3	1	697	1	0	0	0	0	1	0	0	0	4641	1290	45	2	2745	2	DNAH2	17	7663154	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		7663154	73532056	31	54017											
CXXC1	30827	broad.mit.edu	37	chr18	47810101	47810101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtagcagcgctccatgtggcGcaaggcaacacgtgggttga	9	7	15	10	3	0	1	0	1	0	0	1	1	1	1	1	3	3	6	1	3	3	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:47810101G>A	ENST00000285106.6	-	11	2212	c.1498C>T	c.(1498-1500)Cgc>Tgc	p.R500C	CXXC1_ENST00000589940.1_Missense_Mutation_p.R500C|CXXC1_ENST00000412036.2_Missense_Mutation_p.R504C	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	500					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						TCCATGTGGCGCAAGGCAACA	0.577													A	47810101	G	A	47810101	3	1	697	1	0	0	0	0	1	0	0	0	4130	1087	38	1	492	1	CXXC1	18	47810101	Missense_Mutation	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		47810101	30267147	32	54018											
SERPINB13	5275	broad.mit.edu	37	chr18	61262359	61262359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattctagggattccatatAaaaacaacgacctaagcatg	18	9	6	8	1	1	0	0	0	1	0	2	2	2	1	2	1	3	1	2	1	8	6			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr18:61262359A>G	ENST00000344731.5	+	7	814	c.712A>G	c.(712-714)Aaa>Gaa	p.K238E	SERPINB13_ENST00000269489.5_Intron	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	238					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						GATTCCATATAAAAACAACGA	0.433													G	61262359	A	G	61262359	3	3	697	1	0	0	0	0	1	0	0	0	14193	363	13	3	734	3	SERPINB13	18	61262359	Missense_Mutation	SNP	A	TCGA-S9-A6TY-01A-12D-A32B-08	13452258	61262359	16814889	33	54019											
MAP2K7	5609	broad.mit.edu	37	chr19	7975888	7975888	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtgaaggcgctgtactacctGaaggagaagcacggtgtcat	11	8	14	8	2	1	3	1	2	0	1	1	4	1	3	1	3	3	3	1	3	5	2			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:7975888G>A	ENST00000545011.1	+	7	890	c.825G>A	c.(823-825)ctG>ctA	p.L275L	MAP2K7_ENST00000397979.3_Silent_p.L233L|MAP2K7_ENST00000397983.3_Silent_p.L249L|MAP2K7_ENST00000397981.3_Silent_p.L233L			O14733	MP2K7_HUMAN	mitogen-activated protein kinase kinase 7	233	Protein kinase.				activation of JUN kinase activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|stress-activated MAPK cascade|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|nucleus	ATP binding|JUN kinase kinase activity|magnesium ion binding|protein binding|protein kinase binding|protein phosphatase binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			breast(2)|central_nervous_system(3)|endometrium(1)|large_intestine(8)|lung(4)|ovary(1)	19					Etoposide(DB00773)	TGTACTACCTGAAGGAGAAGC	0.652													A	7975888	G	A	7975888	2	1	697	1	0	0	0	0	0	0	0	1	9317	1277	45	2		2	MAP2K7	19	7975888	Silent	SNP	G	TCGA-S9-A6TY-01A-12D-A32B-08		7975888	51153095	34	54020											
ZNF493	284443	broad.mit.edu	37	chr19	21606468	21606468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttagtattttctcaacccCtactaaacataagataattc	14	15	2	10	0	1	1	1	0	1	1	3	1	1	1	2	0	3	1	2	0	8	10	rs142651314	byFrequency	TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:21606468C>T	ENST00000392288.2	+	4	1116	c.1007C>T	c.(1006-1008)cCt>cTt	p.P336L	CTD-2561J22.3_ENST00000600810.1_Intron|ZNF493_ENST00000355504.4_Missense_Mutation_p.P208L	NM_001076678.2	NP_001070146.1	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	208					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						TTCTCAACCCCTACTAAACAT	0.348													T	21606468	C	T	21606468	3	4	697	1	0	0	0	0	1	0	0	0	18045	681	24	2	1084	2	ZNF493	19	21606468	Missense_Mutation	SNP	C	TCGA-S9-A6TY-01A-12D-A32B-08	13630580	21606468	37522515	35	54021											
CEACAM16	388551	broad.mit.edu	37	chr19	45211437	45211437	+	Frame_Shift_Del	DEL	G	G	-																															cagggcaagactgagacactGgaagtggagctgcaggtggc																										TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:45211437delG	ENST00000587331.1	+	6	1460	c.1245delG	c.(1243-1245)ctgfs	p.L415fs	CEACAM16_ENST00000405314.2_Frame_Shift_Del_p.L415fs|CTB-171A8.1_ENST00000590796.1_RNA	NM_001039213.2	NP_001034302.2	A7LI12	A7LI12_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 16	415										endometrium(3)|large_intestine(2)|lung(3)|ovary(1)	9	Lung NSC(12;0.000698)|all_lung(12;0.002)	Prostate(69;0.0376)|Ovarian(192;0.231)				CTGAGACACTGGAAGTGGAGC	0.582													-	45211437	G	-	45211437	7	5	697	1	0	1	0	1	0	0	0	0	3218	1335	47	0	1263	0	CEACAM16	19	45211437	Frame_Shift_Del	DEL	G	TCGA-S9-A6TY-01A-12D-A32B-08	23604969	45211437	13917546	36	54022											
ZNF132	7691	broad.mit.edu	37	chr19	58948511	58948511	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cactcctcttgggagaagtaTacagccacatcttcaaaggt	12	10	8	11	0	3	1	1	0	2	1	4	2	4	1	2	2	2	1	2	2	4	4			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr19:58948511T>C	ENST00000254166.3	-	2	535	c.135A>G	c.(133-135)gtA>gtG	p.V45V		NM_003433.3	NP_003424.3	P52740	ZN132_HUMAN	zinc finger protein 132	45	KRAB.					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(1)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	19		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0171)|Lung(386;0.182)		GGGAGAAGTATACAGCCACAT	0.488													C	58948511	T	C	58948511	2	2	697	1	0	0	0	0	0	0	0	1	17823	1393	49	3		3	ZNF132	19	58948511	Silent	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08	13737074	58948511	180472	37	54023											
TMPRSS15	5651	broad.mit.edu	37	chr21	19770581	19770581	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtcttgcaaattaggatTatatgtaactccggatgtta	11	17	8	5	1	1	0	0	0	1	0	2	2	2	2	1	2	2	3	1	2	6	7			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr21:19770581T>A	ENST00000284885.3	-	2	244	c.211A>T	c.(211-213)Aat>Tat	p.N71Y		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	71	SEA.				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	p.N71Y(1)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						AAATTAGGATTATATGTAACT	0.358													A	19770581	T	A	19770581	3	1	697	1	0	0	0	0	1	0	0	0	16346	1754	61	5	2944	5	TMPRSS15	21	19770581	Missense_Mutation	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		19770581	28359314	38	54024											
ST13	6767	broad.mit.edu	37	chr22	41223196	41223196	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcccattccaggcattccTccgggaaaattaccaggcat	10	9	7	15	1	0	0	0	0	0	0	4	1	4	1	6	3	1	2	6	3	3	3			TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chr22:41223196T>C	ENST00000216218.3	-	11	1366	c.885A>G	c.(883-885)ggA>ggG	p.G295G		NM_003932.3	NP_003923.2	P50502	F10A1_HUMAN	suppression of tumorigenicity 13 (colon carcinoma) (Hsp70 interacting protein)	295	Gly/Met/Pro-rich.						protein binding, bridging			cervix(1)|large_intestine(1)|lung(3)|skin(1)	6						CAGGCATTCCTCCGGGAAAAT	0.458													C	41223196	T	C	41223196	2	2	697	1	0	0	0	0	0	0	0	1	15306	1538	54	3		3	ST13	22	41223196	Silent	SNP	T	TCGA-S9-A6TY-01A-12D-A32B-08		41223196	10081370	39	54025											
AMELY	266	broad.mit.edu	37	chrY	6736157	6736158	+	Frame_Shift_Ins	INS	-	-	G																															tatggggggcaggggccgcaINSgggggaacattggaggcaga																										TCGA-S9-A6TY-01A-12D-A32B-08	TCGA-S9-A6TY-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc0fe1c5-8033-42ab-975f-66954d5e6008	24f1f477-c264-4fa9-a07c-eafe57bf2c25	g.chrY:6736157_6736158insG	ENST00000215479.5	-	5	560_561	c.493_494insC	c.(493-495)ctgfs	p.L165fs	AMELY_ENST00000383036.1_Frame_Shift_Ins_p.L179fs|AMELY_ENST00000383037.4_Frame_Shift_Ins_p.L179fs	NM_001143.1	NP_001134.1	Q99218	AMELY_HUMAN	amelogenin, Y-linked	179	Gln-rich.				biomineral tissue development	proteinaceous extracellular matrix	structural constituent of tooth enamel			NS(1)|lung(5)	6						CAGGGGCCGCAGGGGGAACATT	0.619													G	6736158	-	G	6736157	7	5	697	1	0	1	1	0	0	0	0	0	570	188	7	0	92	0	AMELY	24	6736157	Frame_Shift_Ins	INS	-	TCGA-S9-A6TY-01A-12D-A32B-08		6736157	52637409	40	54026											
CASZ1	54897	broad.mit.edu	37	chr1	10710809	10710809	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actgcgtggccatttgattcGttgctagaacacacaaacca	12	10	8	11	2	0	2	0	1	0	1	1	2	0	2	2	1	4	2	2	1	3	4	rs141036792	by1000genomes	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:10710809G>A	ENST00000377022.3	-	13	3137	c.2820C>T	c.(2818-2820)aaC>aaT	p.N940N	RP4-734G22.3_ENST00000606802.1_RNA|CASZ1_ENST00000344008.5_Silent_p.N940N	NM_001079843.2	NP_001073312.1	Q86V15	CASZ1_HUMAN	castor zinc finger 1	940					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|large_intestine(13)|lung(18)|ovary(2)|prostate(5)|skin(2)|urinary_tract(1)	54	Ovarian(185;0.203)|all_lung(157;0.204)	Lung NSC(185;4.96e-06)|all_lung(284;1.22e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00212)|Hepatocellular(190;0.00913)|Ovarian(437;0.0229)|Myeloproliferative disorder(586;0.0255)	STAD - Stomach adenocarcinoma(5;0.0224)	UCEC - Uterine corpus endometrioid carcinoma (279;0.0265)|Colorectal(212;3.54e-08)|COAD - Colon adenocarcinoma(227;9.56e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000219)|Kidney(185;0.00142)|KIRC - Kidney renal clear cell carcinoma(229;0.00381)|READ - Rectum adenocarcinoma(331;0.0419)|STAD - Stomach adenocarcinoma(132;0.0623)		CATTTGATTCGTTGCTAGAAC	0.597													A	10710809	G	A	10710809	2	1	698	1	0	0	0	0	0	0	0	1	2711	1136	40	1		1	CASZ1	1	10710809	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		10710809	238539812	1	54027											
AP4B1	10717	broad.mit.edu	37	chr1	114438891	114438891	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaacccacctatgcagtaaTacaacaaacgtcctagcatg	17	7	5	12	1	0	0	0	0	0	0	1	0	1	0	3	0	6	3	3	0	8	4			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:114438891T>A	ENST00000369569.1	-	8	1779	c.1499A>T	c.(1498-1500)tAt>tTt	p.Y500F	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000256658.4_Missense_Mutation_p.Y500F|AP4B1_ENST00000369567.1_Missense_Mutation_p.Y332F	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	500					intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TATGCAGTAATACAACAAACG	0.448													A	114438891	T	A	114438891	3	1	698	1	0	0	0	0	1	0	0	0	753	1406	49	5	732	5	AP4B1	1	114438891	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	103728082	114438891	134811730	2	54028											
KIAA1614	57710	broad.mit.edu	37	chr1	180885464	180885464	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcccagggtatggggagtAcagctccagggcccctctgt	6	8	13	14	0	1	0	0	0	1	0	3	1	3	1	5	4	2	3	5	4	2	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:180885464A>G	ENST00000367588.4	+	2	280	c.225A>G	c.(223-225)gtA>gtG	p.V75V		NM_020950.1	NP_066001.1	Q5VZ46	K1614_HUMAN	KIAA1614	75										NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(12)|ovary(5)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	33						TATGGGGAGTACAGCTCCAGG	0.597													G	180885464	A	G	180885464	2	3	698	1	0	0	0	0	0	0	0	1	8306	378	14	3		3	KIAA1614	1	180885464	Silent	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	66446573	180885464	68365157	3	54029											
PTPRC	5788	broad.mit.edu	37	chr1	198668788	198668788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacattcagcggctccgccGccaatgcaaaactcaaccct	12	6	7	16	3	2	1	2	0	0	1	3	1	3	1	4	1	4	2	4	1	4	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr1:198668788G>A	ENST00000367376.2	+	5	559	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	PTPRC_ENST00000391970.3_3'UTR|PTPRC_ENST00000352140.3_Missense_Mutation_p.A130T|PTPRC_ENST00000594404.1_Intron|PTPRC_ENST00000442510.2_Missense_Mutation_p.A132T|PTPRC_ENST00000348564.6_Intron	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	130					axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						CGGCTCCGCCGCCAATGCAAA	0.532											OREG0014061	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	198668788	G	A	198668788	3	1	698	1	0	0	0	0	1	0	0	0	12885	1087	38	1	413	1	PTPRC	1	198668788	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	17783324	198668788	50581833	4	54030											
NT5C1B	93034	broad.mit.edu	37	chr2	18768782	18768782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacctgattgctcagaCgaactcctgttttgtcagat	9	13	8	11	1	3	3	3	1	0	2	4	4	4	3	2	0	3	3	2	0	1	3			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:18768782C>T	ENST00000304081.4	-	2	207	c.107G>A	c.(106-108)cGt>cAt	p.R36H	NT5C1B_ENST00000359846.2_Missense_Mutation_p.R36H|NT5C1B_ENST00000460052.1_5'UTR|NT5C1B_ENST00000600945.1_Missense_Mutation_p.R36H|NT5C1B-RDH14_ENST00000532967.1_Missense_Mutation_p.R36H	NM_033253.3	NP_150278.2			5'-nucleotidase, cytosolic IB											endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.177)	Ovarian(717;0.208)				ATTGCTCAGACGAACTCCTGT	0.438													T	18768782	C	T	18768782	3	4	698	1	0	0	0	0	1	0	0	0	10762	536	19	1	1761	1	NT5C1B	2	18768782	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		18768782	224430591	5	54031											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	698	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	190344330	209113112	34086261	6	54032											
C4orf19	55286	broad.mit.edu	37	chr4	37591775	37591775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaagtcaacagctgcaagcTagatgaagacgacactgata	16	7	10	8	1	1	5	1	3	0	2	1	6	1	5	0	0	4	3	0	0	6	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:37591775T>C	ENST00000284437.6	+	3	276	c.98T>C	c.(97-99)cTa>cCa	p.L33P	C4orf19_ENST00000381980.4_Missense_Mutation_p.L33P|C4orf19_ENST00000508175.1_Intron	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	33										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						AGCTGCAAGCTAGATGAAGAC	0.458													C	37591775	T	C	37591775	3	2	698	1	0	0	0	0	1	0	0	0	2275	1522	53	3	104	3	C4orf19	4	37591775	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08		37591775	153562501	7	54033											
TMPRSS11F	389208	broad.mit.edu	37	chr4	68938111	68938111	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaaactttgatataaagcCttttcaatttttttcttgat	11	21	3	6	0	3	2	2	2	1	0	3	2	3	2	1	0	2	0	1	0	5	10			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:68938111C>T	ENST00000356291.2	-	5	503	c.444G>A	c.(442-444)aaG>aaA	p.K148K	UBA6-AS1_ENST00000511571.1_RNA|UBA6-AS1_ENST00000499180.2_RNA|UBA6-AS1_ENST00000500538.2_RNA	NM_207407.2	NP_997290.2	Q6ZWK6	TM11F_HUMAN	transmembrane protease, serine 11F	148	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(4)	39						GATATAAAGCCTTTTCAATTT	0.323													T	68938111	C	T	68938111	2	4	698	1	0	0	0	0	0	0	0	1	16343	680	24	2		2	TMPRSS11F	4	68938111	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	31346336	68938111	122216165	8	54034											
UGT2B7	7364	broad.mit.edu	37	chr4	69962319	69962319	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaattgtggaaaggtgctGgtgtgggcagcagaatacag	11	8	18	4	0	0	1	0	0	0	1	0	3	0	3	0	5	3	3	0	5	4	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:69962319G>T	ENST00000305231.7	+	1	127	c.81G>T	c.(79-81)ctG>ctT	p.L27L	UGT2B7_ENST00000508661.1_Silent_p.L27L|UGT2B7_ENST00000509763.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	27					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GAAAGGTGCTGGTGTGGGCAG	0.433													T	69962319	G	T	69962319	2	4	698	1	0	0	0	0	0	0	0	1	17064	1335	47	4		4	UGT2B7	4	69962319	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	1024208	69962319	121191957	9	54035											
ADAMTS3	9508	broad.mit.edu	37	chr4	73169701	73169701	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caatgtcatcttcaatgttaTaatcccactccacaccaaga	14	11	3	13	0	3	1	2	0	1	1	5	1	5	1	3	0	0	1	3	0	5	3			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:73169701T>C	ENST00000286657.4	-	17	2393	c.2357A>G	c.(2356-2358)tAt>tGt	p.Y786C		NM_014243.2	NP_055058.2	O15072	ATS3_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 3	786	Spacer.				collagen catabolic process|collagen fibril organization|proteolysis	proteinaceous extracellular matrix	heparin binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(33)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	76			Epithelial(6;4.97e-05)|OV - Ovarian serous cystadenocarcinoma(6;5.66e-05)|all cancers(17;0.000486)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TTCAATGTTATAATCCCACTC	0.413													C	73169701	T	C	73169701	3	2	698	1	0	0	0	0	1	0	0	0	267	1406	49	3	1284	3	ADAMTS3	4	73169701	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	3207382	73169701	117984575	10	54036											
ADH1C	126	broad.mit.edu	37	chr4	100266127	100266127	+	RNA	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggccactgcattctcatcCaccactgtgtactgggagaa	9	11	9	12	0	1	1	1	0	1	1	3	2	2	1	3	2	2	2	3	2	2	3			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr4:100266127C>G	ENST00000515683.1	-	0	810				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	CATTCTCATCCACCACTGTGT	0.577													G	100266127	C	G	100266127	1	3	698	0	1	0	0	0	0	0	0	0	309	581	21	4		4	ADH1C	4	100266127	RNA	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	27096426	100266127	90888149	11	54037											
NKD2	85409	broad.mit.edu	37	chr5	1034967	1034967	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccgtgtgaagctaaccGtcagccctgagccctccagc	7	7	9	18	2	1	2	1	2	0	0	3	2	3	2	6	0	5	1	6	0	2	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:1034967G>A	ENST00000296849.5	+	7	752	c.523G>A	c.(523-525)Gtc>Atc	p.V175I	NKD2_ENST00000537972.1_Missense_Mutation_p.V175I|NKD2_ENST00000274150.4_Missense_Mutation_p.V175I	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	175	Interaction with DVL1, DVL2 and DVL3 (By similarity).				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding	p.V175I(1)		breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GAAGCTAACCGTCAGCCCTGA	0.617													A	1034967	G	A	1034967	3	1	698	1	0	0	0	0	1	0	0	0	10518	1145	40	1	549	1	NKD2	5	1034967	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		1034967	179880293	12	54038											
NNT	23530	broad.mit.edu	37	chr5	43649290	43649290	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggcattgcggctcccaatCtagccttttctcagatggtg	6	13	11	11	1	2	1	1	0	2	1	4	1	3	1	2	3	2	2	2	3	2	4			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr5:43649290C>G	ENST00000264663.5	+	11	1707	c.1486C>G	c.(1486-1488)Cta>Gta	p.L496V	NNT_ENST00000344920.4_Missense_Mutation_p.L496V|NNT_ENST00000512996.2_Missense_Mutation_p.L365V	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	496					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	GGCTCCCAATCTAGCCTTTTC	0.498													G	43649290	C	G	43649290	3	3	698	1	0	0	0	0	1	0	0	0	10586	912	32	4	1524	4	NNT	5	43649290	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	42614323	43649290	137265970	13	54039											
PKHD1	5314	broad.mit.edu	37	chr6	51512879	51512879	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggaagctgaaattgtccatGgctctgaaggaggtcccagg	10	8	15	8	0	1	2	0	2	1	0	3	4	3	4	2	5	1	2	2	5	3	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:51512879G>C	ENST00000371117.3	-	63	11623	c.11348C>G	c.(11347-11349)cCa>cGa	p.P3783R		NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3783			P -> S (in ARPKD).		cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AATTGTCCATGGCTCTGAAGG	0.423													C	51512879	G	C	51512879	3	2	698	1	0	0	0	0	1	0	0	0	12048	1348	47	4	896	4	PKHD1	6	51512879	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		51512879	119602188	14	54040											
HBS1L	10767	broad.mit.edu	37	chr6	135314939	135314939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttggaatgaagtccttatggCctggagcatccattaatgta	11	13	10	7	0	0	1	0	1	0	0	2	3	2	3	3	3	1	2	3	3	5	4			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr6:135314939C>T	ENST00000367837.5	-	8	1246	c.1040G>A	c.(1039-1041)gGc>gAc	p.G347D	HBS1L_ENST00000367824.4_Missense_Mutation_p.G183D|HBS1L_ENST00000367826.2_Missense_Mutation_p.G305D|HBS1L_ENST00000445176.2_Missense_Mutation_p.G71D|HBS1L_ENST00000527578.1_Missense_Mutation_p.G183D|HBS1L_ENST00000415177.2_Missense_Mutation_p.G282D	NM_001145158.1|NM_006620.3	NP_001138630.1|NP_006611.1	Q9Y450	HBS1L_HUMAN	HBS1-like (S. cerevisiae)	347					signal transduction		GTP binding|GTPase activity|translation elongation factor activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	20	Colorectal(23;0.221)			OV - Ovarian serous cystadenocarcinoma(155;0.0046)|GBM - Glioblastoma multiforme(68;0.00702)		GTCCTTATGGCCTGGAGCATC	0.368													T	135314939	C	T	135314939	3	4	698	1	0	0	0	0	1	0	0	0	7042	739	26	2	1058	2	HBS1L	6	135314939	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	83802060	135314939	35800128	15	54041											
PMS2	5395	broad.mit.edu	37	chr7	6026444	6026444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattttctccaggacaaatcTttgccctaaacttcctgtaa	11	14	5	11	0	2	0	0	0	2	0	4	2	3	1	3	1	2	1	3	1	4	6	rs143844197	by1000genomes	TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:6026444T>C	ENST00000265849.7	-	11	2057	c.1952A>G	c.(1951-1953)aAg>aGg	p.K651R	PMS2_ENST00000406569.3_Intron|PMS2_ENST00000382321.4_Intron|PMS2_ENST00000441476.2_Missense_Mutation_p.K545R|PMS2_ENST00000469652.1_Intron	NM_000535.5	NP_000526	P54278	PMS2_HUMAN	PMS2 postmeiotic segregation increased 2 (S. cerevisiae)	651					mismatch repair|reciprocal meiotic recombination|somatic hypermutation of immunoglobulin genes	MutLalpha complex	ATP binding|ATPase activity|endonuclease activity|protein binding|single base insertion or deletion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(11)|lung(13)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Ovarian(82;0.0694)		UCEC - Uterine corpus endometrioid carcinoma (126;0.101)|OV - Ovarian serous cystadenocarcinoma(56;4.39e-15)		AGGACAAATCTTTGCCCTAAA	0.328			"Mis, N, F"			"colorectal, endometrial, ovarian, medulloblastoma, glioma"		Direct reversal of damage;Mismatch excision repair (MMR)	Turcot syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome				C	6026444	T	C	6026444	3	2	698	1	0	0	0	0	1	0	0	0	12220	1609	56	3	656	3	PMS2	7	6026444	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08		6026444	153112219	16	54042											
KCND2	3751	broad.mit.edu	37	chr7	119915148	119915148	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcaggacgacgcggatacCgacaccgctggggagagcgc	9	3	16	13	6	0	1	0	0	0	1	0	6	0	3	2	4	3	2	2	4	1	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr7:119915148C>T	ENST00000331113.4	+	1	1427	c.462C>T	c.(460-462)acC>acT	p.T154T		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	154					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					ACGCGGATACCGACACCGCTG	0.622													T	119915148	C	T	119915148	2	4	698	1	0	0	0	0	0	0	0	1	8077	639	23	1		1	KCND2	7	119915148	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	113888704	119915148	39223515	17	54043											
CD72	971	broad.mit.edu	37	chr9	35618218	35618218	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggaggcctcatcccccttaCcctgtcctaaccggctggag	6	8	11	16	1	1	0	1	0	0	0	3	2	3	2	6	4	2	1	6	4	2	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:35618218C>A	ENST00000396757.1	-	2	247		c.e2+1		CD72_ENST00000378431.1_Splice_Site|CD72_ENST00000490239.1_Intron|CD72_ENST00000259633.4_Splice_Site|CD72_ENST00000378430.3_Splice_Site			P21854	CD72_HUMAN	CD72 molecule						axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			ATCCCCCTTACCCTGTCCTAA	0.567													A	35618218	C	A	35618218	5	1	698	1	0	0	0	0	0	0	1	0	3064	521	18	4	1028	4	CD72	9	35618218	Splice_Site	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		35618218	105595213	18	54044											
MAMDC4	158056	broad.mit.edu	37	chr9	139752161	139752161	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcactaccccggggccagAcggcctccctgacctccaag	8	4	10	19	3	0	2	0	1	0	1	2	2	2	2	7	3	1	1	7	3	2	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr9:139752161A>G	ENST00000445819.1	+	21	2664	c.2614A>G	c.(2614-2616)Acg>Gcg	p.T872A	MAMDC4_ENST00000485732.1_3'UTR|MAMDC4_ENST00000317446.2_Missense_Mutation_p.T793A			Q6UXC1	AEGP_HUMAN	MAM domain containing 4	872	MAM 5.				protein transport	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	19	all_cancers(76;0.0763)|all_epithelial(76;0.198)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.52e-05)|Epithelial(140;0.000171)		CCGGGGCCAGACGGCCTCCCT	0.677													G	139752161	A	G	139752161	3	3	698	1	0	0	0	0	1	0	0	0	9279	275	10	3	2451	3	MAMDC4	9	139752161	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	104133943	139752161	1461270	19	54045											
DCHS1	8642	broad.mit.edu	37	chr11	6650970	6650970	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gggttgttctcacgcaagagGacgctgtactcctgctgctg	6	11	13	11	2	1	1	1	0	1	1	3	2	2	2	1	2	3	7	1	2	2	3	rs144759454		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:6650970G>A	ENST00000299441.3	-	11	5379	c.4968C>T	c.(4966-4968)gtC>gtT	p.V1656V		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	1656	Cadherin 16.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CACGCAAGAGGACGCTGTACT	0.632													A	6650970	G	A	6650970	2	1	698	1	0	0	0	0	0	0	0	1	4321	1161	41	2		2	DCHS1	11	6650970	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		6650970	128355546	20	54046											
CTR9	9646	broad.mit.edu	37	chr11	10789666	10789666	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccatctacaaacaagtaCtcagaaatgatgcaaagaat	18	8	7	8	0	2	3	1	1	1	2	2	3	2	3	1	1	4	2	1	1	7	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:10789666C>G	ENST00000361367.2	+	15	2344	c.1918C>G	c.(1918-1920)Ctc>Gtc	p.L640V		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	640					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		CAAACAAGTACTCAGAAATGA	0.363													G	10789666	C	G	10789666	3	3	698	1	0	0	0	0	1	0	0	0	4057	565	20	4	1976	4	CTR9	11	10789666	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	4138696	10789666	124216850	21	54047											
MRGPRD	116512	broad.mit.edu	37	chr11	68747597	68747597	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccagggacctggtgggcaGcctgtggctcctccggctgc	3	7	15	16	1	0	0	0	0	0	0	2	1	2	1	6	5	2	3	6	5	0	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:68747597G>A	ENST00000309106.3	-	1	858	c.859C>T	c.(859-861)Ctg>Ttg	p.L287L		NM_198923.2	NP_944605.2	Q8TDS7	MRGRD_HUMAN	MAS-related GPR, member D	287						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)	22			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			CTGGTGGGCAGCCTGTGGCTC	0.662													A	68747597	G	A	68747597	2	1	698	1	0	0	0	0	0	0	0	1	9839	962	34	2		2	MRGPRD	11	68747597	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	57957931	68747597	66258919	22	54048											
GRIA4	2893	broad.mit.edu	37	chr11	105845182	105845182	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaatgaaggtggcaaagaGtgcacagacttttaacccaa	16	7	11	7	0	0	4	0	1	0	3	0	5	0	4	1	2	2	2	1	2	5	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:105845182G>C	ENST00000393127.2	+	16	3001	c.2555G>C	c.(2554-2556)aGt>aCt	p.S852T	GRIA4_ENST00000525187.1_Missense_Mutation_p.S852T|GRIA4_ENST00000282499.5_Intron|GRIA4_ENST00000530497.1_Intron|GRIA4_ENST00000533094.1_3'UTR	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	852					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GTGGCAAAGAGTGCACAGACT	0.438													C	105845182	G	C	105845182	3	2	698	1	0	0	0	0	1	0	0	0	6825	1029	36	4	2769	4	GRIA4	11	105845182	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	37097585	105845182	29161334	23	54049											
ST14	6768	broad.mit.edu	37	chr11	130079712	130079712	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggatcaaagagaacactggGgtataggggccggggccacc	11	5	16	9	1	1	1	1	0	0	1	1	3	1	2	3	7	1	1	3	7	4	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr11:130079712G>A	ENST00000278742.5	+	19	2980	c.2562G>A	c.(2560-2562)ggG>ggA	p.G854G		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	854	Peptidase S1.				proteolysis	integral to plasma membrane	serine-type endopeptidase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	AGAACACTGGGGTATAGGGGC	0.637													A	130079712	G	A	130079712	2	1	698	1	0	0	0	0	0	0	0	1	15307	1219	43	2		2	ST14	11	130079712	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	24234530	130079712	4926804	24	54050											
HOXC4	3221	broad.mit.edu	37	chr12	54447975	54447975	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccaggcgggccaccaccAccccgagaaatcacagtcgc	10	2	11	18	3	1	1	1	0	0	1	2	2	1	1	6	3	0	0	6	3	1	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr12:54447975A>C	ENST00000430889.2	+	1	315	c.269A>C	c.(268-270)cAc>cCc	p.H90P	HOXC4_ENST00000609810.1_Missense_Mutation_p.H90P|HOXC4_ENST00000303406.4_Missense_Mutation_p.H90P	NM_153633.2	NP_705897.1	P09017	HXC4_HUMAN	homeobox C4	90						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|urinary_tract(1)	13						GGCCACCACCACCCCGAGAAA	0.736													C	54447975	A	C	54447975	3	2	698	1	0	0	0	0	1	0	0	0	7368	159	6	5	271	5	HOXC4	12	54447975	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		54447975	79403920	25	54051											
BRCA2	675	broad.mit.edu	37	chr13	32912670	32912670	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttaacttttttggaagttgCgaaagctcaagaagcatgtc	12	14	9	6	1	1	1	1	0	0	1	2	3	1	2	0	1	4	3	0	1	5	6			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:32912670C>T	ENST00000544455.1	+	11	4405	c.4178C>T	c.(4177-4179)gCg>gTg	p.A1393V	BRCA2_ENST00000380152.3_Missense_Mutation_p.A1393V	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	1393					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		TTGGAAGTTGCGAAAGCTCAA	0.333			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			T	32912670	C	T	32912670	3	4	698	1	0	0	0	0	1	0	0	0	1508	768	27	1	4216	1	BRCA2	13	32912670	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		32912670	82257208	26	54052											
GPC6	10082	broad.mit.edu	37	chr13	93879733	93879733	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttcttggatcggggctgtGattcttcccctcttggggct	2	15	12	12	1	3	1	0	1	3	0	5	2	4	2	3	5	0	2	3	5	0	5			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr13:93879733G>T	ENST00000377047.4	+	1	639	c.24G>T	c.(22-24)gtG>gtT	p.V8V		NM_005708.3	NP_005699.1	Q9Y625	GPC6_HUMAN	glypican 6	8						anchored to membrane|extracellular space|integral to plasma membrane|proteinaceous extracellular matrix	heparan sulfate proteoglycan binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	38	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;5.48e-07)|all_epithelial(2;5.69e-08)|all_lung(2;2.19e-05)|Lung NSC(4;6.09e-05)|Breast(118;0.0395)|Renal(2;0.0568)|Hepatocellular(115;0.217)				TCGGGGCTGTGATTCTTCCCC	0.642											OREG0022460	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	93879733	G	T	93879733	2	4	698	1	0	0	0	0	0	0	0	1	6656	1277	45	4		4	GPC6	13	93879733	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	60967063	93879733	21290145	27	54053											
POMT2	29954	broad.mit.edu	37	chr14	77765887	77765887	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cacaggacacgagcagtcagGtgttttcccacagtcacctg	10	8	10	13	1	2	0	2	0	0	0	3	2	3	1	2	2	1	2	2	2	0	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr14:77765887G>A	ENST00000261534.4	-	7	1036	c.834C>T	c.(832-834)caC>caT	p.H278H		NM_013382.5	NP_037514.2	Q9UKY4	POMT2_HUMAN	protein-O-mannosyltransferase 2	278					protein O-linked glycosylation	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate-mannose-protein mannosyltransferase activity|metal ion binding			breast(2)|endometrium(2)|large_intestine(1)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	14			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0292)		GAGCAGTCAGGTGTTTTCCCA	0.498													A	77765887	G	A	77765887	2	1	698	1	0	0	0	0	0	0	0	1	12323	1252	44	2		2	POMT2	14	77765887	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		77765887	29583653	28	54054											
TCF12	6938	broad.mit.edu	37	chr15	57523394	57523394	+	Frame_Shift_Del	DEL	T	T	-																															gatgatttcaaccgtgaatcTcctagttatccatctcctaa																										TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr15:57523394delT	ENST00000267811.5	+	9	928	c.624delT	c.(622-624)tctfs	p.S208fs	TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000543579.1_Frame_Shift_Del_p.S38fs|TCF12_ENST00000333725.5_Frame_Shift_Del_p.S208fs|TCF12_ENST00000557843.1_Frame_Shift_Del_p.S208fs|TCF12_ENST00000438423.2_Frame_Shift_Del_p.S208fs|TCF12_ENST00000452095.2_Frame_Shift_Del_p.S204fs|TCF12_ENST00000537840.1_Frame_Shift_Del_p.L20fs|TCF12_ENST00000343827.3_Frame_Shift_Del_p.S38fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	208					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ACCGTGAATCTCCTAGTTATC	0.353			T	TEC	extraskeletal myxoid chondrosarcoma								-	57523394	T	-	57523394	7	5	698	1	0	1	0	1	0	0	0	0	15787	1538	54	0	727	0	TCF12	15	57523394	Frame_Shift_Del	DEL	T	TCGA-S9-A6TZ-01A-21D-A32B-08		57523394	45007998	29	54055											
ZP2	7783	broad.mit.edu	37	chr16	21212828	21212828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaaattggttggcggaggAatctcactagagggtactcg	10	11	14	6	2	1	1	1	0	1	1	3	3	1	3	0	5	1	3	0	5	5	5			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr16:21212828A>G	ENST00000574002.1	-	15	2038	c.1556T>C	c.(1555-1557)tTc>tCc	p.F519S	ZP2_ENST00000574091.1_Missense_Mutation_p.F510S|ZP2_ENST00000219593.4_Missense_Mutation_p.F519S|AF001550.7_ENST00000572747.1_RNA			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	519	ZP.				binding of sperm to zona pellucida|intracellular protein transport	endoplasmic reticulum|Golgi apparatus|integral to membrane|multivesicular body|plasma membrane|proteinaceous extracellular matrix|stored secretory granule	acrosin binding|coreceptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TTGGCGGAGGAATCTCACTAG	0.448													G	21212828	A	G	21212828	3	3	698	1	0	0	0	0	1	0	0	0	18315	246	9	3	705	3	ZP2	16	21212828	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		21212828	69141925	30	54056											
POLR2A	5430	broad.mit.edu	37	chr17	7412932	7412932	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcgcatcatgaacagcgAtgagaacaagatgcaagagg	16	7	11	7	2	1	4	1	2	0	3	2	6	1	4	0	1	4	2	0	1	5	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7412932A>T	ENST00000322644.6	+	22	4193	c.3794A>T	c.(3793-3795)gAt>gTt	p.D1265V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1265					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ATGAACAGCGATGAGAACAAG	0.458													T	7412932	A	T	7412932	3	4	698	1	0	0	0	0	1	0	0	0	12291	333	12	5	3880	5	POLR2A	17	7412932	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		7412932	73782278	31	54057											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	698	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	164607	7577539	73617671	32	54058											
KSR1	8844	broad.mit.edu	37	chr17	25937180	25937180	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgacccccgggaaggacgaGgatcagctgccattctccaa	11	6	11	13	2	2	1	1	1	1	0	3	5	2	4	4	3	2	1	4	3	2	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:25937180G>A	ENST00000398988.3	+	19	2413	c.1968G>A	c.(1966-1968)gaG>gaA	p.E656E	KSR1_ENST00000268763.6_Silent_p.E656E|KSR1_ENST00000319524.6_Silent_p.E793E|KSR1_ENST00000582410.1_Silent_p.E7E|KSR1_ENST00000509603.2_Silent_p.E771E	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	791	Protein kinase.				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		GGAAGGACGAGGATCAGCTGC	0.587											OREG0024262	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	25937180	G	A	25937180	2	1	698	1	0	0	0	0	0	0	0	1	8640	991	35	2		2	KSR1	17	25937180	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	18359641	25937180	55258030	33	54059											
TMEM104	54868	broad.mit.edu	37	chr17	72832755	72832755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaccttctgggtgggcttcGtgctgctctgggctttctcc	2	14	12	13	1	3	0	0	0	3	0	5	0	3	0	2	3	2	4	2	3	0	3			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:72832755G>A	ENST00000335464.5	+	10	1582	c.1420G>A	c.(1420-1422)Gtg>Atg	p.V474M	TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.V474M|TMEM104_ENST00000582773.1_Intron	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	474						integral to membrane				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GGTGGGCTTCGTGCTGCTCTG	0.592													A	72832755	G	A	72832755	3	1	698	1	0	0	0	0	1	0	0	0	16118	1145	40	1	1454	1	TMEM104	17	72832755	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	46895575	72832755	8362455	34	54060											
CBX4	8535	broad.mit.edu	37	chr17	77808940	77808940	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtactgcaggtcgtacatTttggggtcgggctggtaggg	5	12	18	6	2	0	0	0	0	0	0	2	0	0	0	0	7	3	5	0	7	3	5			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr17:77808940T>A	ENST00000269397.4	-	5	678	c.501A>T	c.(499-501)aaA>aaT	p.K167N	CBX4_ENST00000448310.1_3'UTR	NM_003655.2	NP_003646.2	O00257	CBX4_HUMAN	chromobox homolog 4	167	Interaction with BMI1.				anti-apoptosis|chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|PcG protein complex	enzyme binding|transcription corepressor activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(97;0.0102)|BRCA - Breast invasive adenocarcinoma(99;0.0224)			GGTCGTACATTTTGGGGTCGG	0.687											OREG0024799	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	77808940	T	A	77808940	3	1	698	1	0	0	0	0	1	0	0	0	2746	1838	64	5	1185	5	CBX4	17	77808940	Missense_Mutation	SNP	T	TCGA-S9-A6TZ-01A-21D-A32B-08	4976185	77808940	3386270	35	54061											
ARHGAP33	115703	broad.mit.edu	37	chr19	36268615	36268615	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cctctacccactgctgggggGcccagtgtgaaggggaagcc	7	6	15	13	0	1	1	0	1	1	0	1	2	1	2	4	5	3	1	4	5	3	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:36268615G>A	ENST00000007510.4	+	2	219	c.75G>A	c.(73-75)ggG>ggA	p.G25G	ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Silent_p.G25G|ARHGAP33_ENST00000378944.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	25					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CTGCTGGGGGGCCCAGTGTGA	0.642													A	36268615	G	A	36268615	2	1	698	1	0	0	0	0	0	0	0	1	885	1190	42	2		2	ARHGAP33	19	36268615	Silent	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08		36268615	22860368	36	54062											
RCN3	57333	broad.mit.edu	37	chr19	50031918	50031918	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggctttcctgggacgggaAgtggccaaggaattcgacca	10	7	15	9	2	0	0	0	0	0	0	2	5	1	3	3	5	0	1	3	5	3	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr19:50031918A>G	ENST00000270645.3	+	2	636	c.189A>G	c.(187-189)gaA>gaG	p.E63E	RCN3_ENST00000593644.1_3'UTR	NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	63						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGGGACGGGAAGTGGCCAAGG	0.637													G	50031918	A	G	50031918	2	3	698	1	0	0	0	0	0	0	0	1	13269	69	3	3		3	RCN3	19	50031918	Silent	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	13763303	50031918	9097065	37	54063											
TCEA2	6919	broad.mit.edu	37	chr20	62701881	62701881	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaggagatccgtaaggccAtgaccaaggaggccatccga	13	5	13	10	2	0	3	0	2	0	1	2	6	2	4	5	4	0	1	5	4	3	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chr20:62701881A>T	ENST00000361317.2	+	9	1073	c.631A>T	c.(631-633)Atg>Ttg	p.M211L	TCEA2_ENST00000465111.1_3'UTR|TCEA2_ENST00000343484.5_Missense_Mutation_p.M238L|TCEA2_ENST00000395053.3_3'UTR	NM_198723.1	NP_942016.1	Q15560	TCEA2_HUMAN	transcription elongation factor A (SII), 2	238	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription elongation, DNA-dependent	transcription elongation factor complex	DNA binding|protein binding|translation elongation factor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)	12	all_cancers(38;3.45e-11)|all_epithelial(29;9.12e-13)|Lung NSC(23;2e-09)|all_lung(23;6.77e-09)					CCGTAAGGCCATGACCAAGGA	0.632													T	62701881	A	T	62701881	3	4	698	1	0	0	0	0	1	0	0	0	15768	217	8	5	742	5	TCEA2	20	62701881	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08		62701881	323639	38	54064											
SHROOM2	357	broad.mit.edu	37	chrX	9863274	9863274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agccccctctgtgctgacagCcttgggcaggagccaggggc	6	6	15	14	0	1	1	0	1	1	0	1	2	1	2	4	4	4	2	4	4	0	1			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:9863274C>A	ENST00000380913.3	+	4	1416	c.1326C>A	c.(1324-1326)agC>agA	p.S442R		NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	442					apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				GTGCTGACAGCCTTGGGCAGG	0.652													A	9863274	C	A	9863274	3	1	698	1	0	0	0	0	1	0	0	0	14388	738	26	4	1340	4	SHROOM2	23	9863274	Missense_Mutation	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08		9863274	145407286	39	54065											
ESX1	80712	broad.mit.edu	37	chrX	103495451	103495451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	caaagcaggatccagagcagGagcagcataataggccccac	15	3	11	12	0	0	1	0	0	0	1	1	3	1	3	3	3	4	4	3	3	3	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:103495451G>A	ENST00000372588.4	-	4	762	c.679C>T	c.(679-681)Cct>Tct	p.P227S		NM_153448.3	NP_703149.1	Q8N693	ESX1_HUMAN	ESX homeobox 1	227					negative regulation of transcription, DNA-dependent|regulation of cell cycle	cytoplasm|nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|large_intestine(10)|lung(12)|ovary(1)|skin(2)	27						TCCAGAGCAGGAGCAGCATAA	0.552													A	103495451	G	A	103495451	3	1	698	1	0	0	0	0	1	0	0	0	5304	1174	41	2	545	2	ESX1	23	103495451	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	93632177	103495451	51775109	40	54066											
CUL4B	8450	broad.mit.edu	37	chrX	119674329	119674329	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcagaaagcagatatcaattAtatggtcaaccttatcttta	15	14	5	7	0	4	2	3	0	1	2	4	2	4	2	1	1	2	1	1	1	8	6			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:119674329A>T	ENST00000371322.5	-	11	1593	c.1532T>A	c.(1531-1533)aTa>aAa	p.I511K	CUL4B_ENST00000404115.3_Missense_Mutation_p.I529K|CUL4B_ENST00000336592.6_Missense_Mutation_p.I516K	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	529					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GATATCAATTATATGGTCAAC	0.308													T	119674329	A	T	119674329	3	4	698	1	0	0	0	0	1	0	0	0	4091	449	16	5	1195	5	CUL4B	23	119674329	Missense_Mutation	SNP	A	TCGA-S9-A6TZ-01A-21D-A32B-08	16178878	119674329	35596231	41	54067											
CT47B1	643311	broad.mit.edu	37	chrX	120009261	120009261	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctcttcctccgtcgcgggCccgatatctgagtcctcctc	3	12	8	18	4	2	1	0	1	2	0	9	2	7	1	6	1	0	0	6	1	1	2			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:120009261C>T	ENST00000371311.3	-	1	518	c.264G>A	c.(262-264)ggG>ggA	p.G88G		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	88										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						ccGTCGCGGGCCCGATATCTG	0.721													T	120009261	C	T	120009261	2	4	698	1	0	0	0	0	0	0	0	1	4022	726	26	2		2	CT47B1	23	120009261	Silent	SNP	C	TCGA-S9-A6TZ-01A-21D-A32B-08	334932	120009261	35261299	42	54068											
RAP2C	57826	broad.mit.edu	37	chrX	131348314	131348314	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatttactttttgccgatGtctccatgaaaggacagccc	9	14	8	10	1	1	2	0	2	1	0	2	4	1	3	3	1	3	0	3	1	2	5			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:131348314G>A	ENST00000342983.2	-	3	1180	c.434C>T	c.(433-435)aCa>aTa	p.T145I	RAP2C_ENST00000370874.1_Missense_Mutation_p.T145I|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	145					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TTTTGCCGATGTCTCCATGAA	0.443													A	131348314	G	A	131348314	3	1	698	1	0	0	0	0	1	0	0	0	13130	1377	48	2	121	2	RAP2C	23	131348314	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	11339053	131348314	23922246	43	54069											
F9	2158	broad.mit.edu	37	chrX	138643011	138643011	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgttaaaattacagttgtcGcaggtaaatacacagaaaga	17	10	9	5	1	0	2	0	0	0	2	1	2	0	2	0	1	2	4	0	1	7	5	rs137852247		TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:138643011G>A	ENST00000218099.2	+	7	842	c.835G>A	c.(835-837)Gca>Aca	p.A279T	F9_ENST00000394090.2_Missense_Mutation_p.A241T	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	279	Peptidase S1.		A -> T (in HEMB; mild).		blood coagulation, extrinsic pathway|blood coagulation, intrinsic pathway|peptidyl-glutamic acid carboxylation|post-translational protein modification|proteolysis	endoplasmic reticulum lumen|extracellular region|Golgi lumen|plasma membrane	calcium ion binding|serine-type endopeptidase activity			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Heparin(DB01109)|Menadione(DB00170)	TACAGTTGTCGCAGGTAAATA	0.353													A	138643011	G	A	138643011	3	1	698	1	0	0	0	0	1	0	0	0	5396	1087	38	1	861	1	F9	23	138643011	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	7294697	138643011	16627549	44	54070											
MAGEA11	4110	broad.mit.edu	37	chrX	148797890	148797890	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgatcacaaaggcagaaatGctggggagtgtcatcaaaaa	16	7	11	7	0	3	2	3	1	0	1	3	3	3	3	0	3	1	2	0	3	4	0			TCGA-S9-A6TZ-01A-21D-A32B-08	TCGA-S9-A6TZ-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b34ce7c2-7592-4123-8c4e-50c80b01c9dd	18964457-ef9a-436c-8d75-b11c6c918e6e	g.chrX:148797890G>C	ENST00000355220.5	+	5	846	c.744G>C	c.(742-744)atG>atC	p.M248I	MAGEA11_ENST00000333104.4_Missense_Mutation_p.M219I	NM_005366.4	NP_005357.2	P43364	MAGAB_HUMAN	melanoma antigen family A, 11	248	MAGE.					cytoplasm|nucleus	protein binding			cervix(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	9	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					AGGCAGAAATGCTGGGGAGTG	0.413													C	148797890	G	C	148797890	3	2	698	1	0	0	0	0	1	0	0	0	9236	1319	46	4	771	4	MAGEA11	23	148797890	Missense_Mutation	SNP	G	TCGA-S9-A6TZ-01A-21D-A32B-08	10154879	148797890	6472670	45	54071											
HIVEP3	59269	broad.mit.edu	37	chr1	41990468	41990468	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccggacgtcagtgtgggtgCggatgtgtttcttcagcatg	5	12	16	8	3	3	0	2	0	1	0	3	2	3	2	1	3	2	2	1	3	0	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:41990468C>A	ENST00000372584.1	-	5	6335	c.5321G>T	c.(5320-5322)cGc>cTc	p.R1774L	HIVEP3_ENST00000429157.2_Missense_Mutation_p.R1774L|HIVEP3_ENST00000460604.1_Intron|HIVEP3_ENST00000247584.5_Missense_Mutation_p.R1774L|HIVEP3_ENST00000372583.1_Missense_Mutation_p.R1774L	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	1774	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)				AGTGTGGGTGCGGATGTGTTT	0.537													A	41990468	C	A	41990468	3	1	699	1	0	0	0	0	1	0	0	0	7243	768	27	4	1915	4	HIVEP3	1	41990468	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		41990468	207260153	1	54072											
PGLYRP4	57115	broad.mit.edu	37	chr1	153317834	153317834	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgccttgcgagagaccGtggtggagacatctgtggga	8	8	15	10	2	1	2	0	0	1	2	1	6	1	3	3	3	2	0	3	3	0	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:153317834G>A	ENST00000368739.3	-	4	510	c.152C>T	c.(151-153)aCg>aTg	p.T51M	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.T55M|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	55					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	p.T55M(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			GCGAGAGACCGTGGTGGAGAC	0.587													A	153317834	G	A	153317834	3	1	699	1	0	0	0	0	1	0	0	0	11873	1145	40	1	981	1	PGLYRP4	1	153317834	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	111327366	153317834	95932787	2	54073											
SPTA1	6708	broad.mit.edu	37	chr1	158648254	158648254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctggagagccaaaccaCgaaggcgctcccaggcagca	11	4	12	14	2	1	1	0	0	1	1	3	3	2	1	3	3	3	3	3	3	2	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:158648254C>T	ENST00000368147.4	-	6	929	c.749G>A	c.(748-750)cGt>cAt	p.R250H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	p.R250H(1)		NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					AGCCAAACCACGAAGGCGCTC	0.438													T	158648254	C	T	158648254	3	4	699	1	0	0	0	0	1	0	0	0	15212	536	19	1	6698	1	SPTA1	1	158648254	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	5330420	158648254	90602367	3	54074											
RYR2	6262	broad.mit.edu	37	chr1	237947854	237947854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgtgaaggacatggtcaCggccttcttttcatcctact	8	12	9	12	2	3	1	2	1	1	0	4	3	4	2	3	3	1	0	3	3	2	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr1:237947854C>T	ENST00000366574.2	+	90	13159	c.12842C>T	c.(12841-12843)aCg>aTg	p.T4281M	RYR2_ENST00000360064.6_Missense_Mutation_p.T4287M|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.T4265M	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4281					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GACATGGTCACGGCCTTCTTT	0.458													T	237947854	C	T	237947854	3	4	699	1	0	0	0	0	1	0	0	0	13860	536	19	1	13200	1	RYR2	1	237947854	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	79299600	237947854	11302767	4	54075											
C2orf78	388960	broad.mit.edu	37	chr2	74042529	74042529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacttcctgtagaaatcccCgatattcacccgcttctggc	8	12	6	15	2	2	1	1	0	1	1	4	2	4	1	4	1	1	2	4	1	4	6	rs143445466	by1000genomes	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:74042529C>T	ENST00000409561.1	+	3	1300	c.1179C>T	c.(1177-1179)ccC>ccT	p.P393P		NM_001080474.1	NP_001073943.1	A6NCI8	CB078_HUMAN	chromosome 2 open reading frame 78	393										cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(2)|prostate(2)|soft_tissue(1)|urinary_tract(1)	34						TAGAAATCCCCGATATTCACC	0.448													T	74042529	C	T	74042529	2	4	699	1	0	0	0	0	0	0	0	1	2216	639	23	1		1	C2orf78	2	74042529	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		74042529	169156844	5	54076											
INSIG2	51141	broad.mit.edu	37	chr2	118854303	118854303	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	attcagagaaatgtgacgctCtttccacctgatgtgattgc	10	13	9	9	1	2	4	1	3	1	1	3	5	3	4	2	0	1	1	2	0	1	3	rs138954785		TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:118854303C>T	ENST00000245787.4	+	2	377	c.171C>T	c.(169-171)ctC>ctT	p.L57L	INSIG2_ENST00000485520.1_Intron	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	57					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						ATGTGACGCTCTTTCCACCTG	0.413													T	118854303	C	T	118854303	2	4	699	1	0	0	0	0	0	0	0	1	7824	900	32	2		2	INSIG2	2	118854303	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	44811774	118854303	124345070	6	54077											
ZDBF2	57683	broad.mit.edu	37	chr2	207169615	207169615	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagttacattccagaccTcataaatctcaggaaggcac	15	8	8	10	0	2	2	2	0	1	2	4	4	3	3	2	2	1	2	2	2	5	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr2:207169615T>A	ENST00000374423.3	+	5	749	c.363T>A	c.(361-363)ccT>ccA	p.P121P		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	121							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						ATTCCAGACCTCATAAATCTC	0.453													A	207169615	T	A	207169615	2	1	699	1	0	0	0	0	0	0	0	1	17700	1538	54	5		5	ZDBF2	2	207169615	Silent	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	88315312	207169615	36029758	7	54078											
PIK3CA	5290	broad.mit.edu	37	chr3	178947865	178947865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctaccttcattttgggaattGgagatcgtcacaatagtaac	12	13	8	8	1	2	1	2	0	0	1	3	3	2	2	1	2	2	1	1	2	5	7			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:178947865G>A	ENST00000263967.3	+	19	2897	c.2740G>A	c.(2740-2742)Gga>Aga	p.G914R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	914	PI3K/PI4K.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TTTGGGAATTGGAGATCGTCA	0.358		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178947865	G	A	178947865	3	1	699	1	0	0	0	0	1	0	0	0	11990	1349	47	2	2810	2	PIK3CA	3	178947865	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		178947865	19074565	8	54079											
TP63	8626	broad.mit.edu	37	chr3	189586471	189586471	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagaaagcagcaagtttcGgacagtacaaagaacggtga	17	6	11	7	2	1	3	1	1	0	2	2	4	1	4	0	2	4	4	0	2	5	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr3:189586471G>A	ENST00000264731.3	+	8	1184	c.1095G>A	c.(1093-1095)tcG>tcA	p.S365S	TP63_ENST00000418709.2_Silent_p.S365S|TP63_ENST00000456148.1_Silent_p.S271S|TP63_ENST00000354600.5_Silent_p.S271S|TP63_ENST00000437221.1_Silent_p.S271S|TP63_ENST00000382063.4_Silent_p.S280S|TP63_ENST00000392463.2_Silent_p.S271S|TP63_ENST00000449992.1_Silent_p.S186S|TP63_ENST00000320472.5_Silent_p.S365S|TP63_ENST00000392461.3_Silent_p.S271S|TP63_ENST00000440651.2_Silent_p.S365S|TP63_ENST00000392460.3_Silent_p.S365S	NM_001114978.1|NM_003722.4	NP_001108450.1|NP_003713.3	Q9H3D4	P63_HUMAN	tumor protein p63	365	Interaction with HIPK2.				anti-apoptosis|cellular response to UV|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|mitotic cell cycle G1/S transition DNA damage checkpoint|negative regulation of transcription from RNA polymerase II promoter|Notch signaling pathway|positive regulation of Notch signaling pathway|protein homotetramerization|regulation of neuron apoptosis|response to gamma radiation|response to X-ray	chromatin|cytosol|dendrite|Golgi apparatus|transcription factor complex	chromatin binding|damaged DNA binding|double-stranded DNA binding|identical protein binding|metal ion binding|p53 binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(5)|large_intestine(12)|lung(15)|ovary(2)|skin(9)|upper_aerodigestive_tract(6)	61	all_cancers(143;3.35e-10)|Ovarian(172;0.0925)		Lung(62;3.33e-05)	GBM - Glioblastoma multiforme(93;0.0227)		AGCAAGTTTCGGACAGTACAA	0.532										HNSCC(45;0.13)			A	189586471	G	A	189586471	2	1	699	1	0	0	0	0	0	0	0	1	16493	1103	39	1		1	TP63	3	189586471	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	10638606	189586471	8435959	9	54080											
SULT1B1	27284	broad.mit.edu	37	chr4	70620861	70620861	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaattttttcccagttgctTgcaaaagcacaggtcatggg	10	13	9	9	0	2	0	2	0	0	0	3	0	3	0	1	2	3	4	1	2	3	5			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:70620861T>C	ENST00000310613.3	-	2	372	c.75A>G	c.(73-75)gcA>gcG	p.A25A		NM_014465.3	NP_055280.2	O43704	ST1B1_HUMAN	sulfotransferase family, cytosolic, 1B, member 1						3'-phosphoadenosine 5'-phosphosulfate metabolic process|cellular biogenic amine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|thyroid hormone metabolic process|xenobiotic metabolic process	cytosol				breast(1)|cervix(1)|endometrium(2)|large_intestine(4)|lung(14)|prostate(1)|upper_aerodigestive_tract(1)	24						CCCAGTTGCTTGCAAAAGCAC	0.388													C	70620861	T	C	70620861	2	2	699	1	0	0	0	0	0	0	0	1	15472	1799	63	3		3	SULT1B1	4	70620861	Silent	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08		70620861	120533415	10	54081											
RCHY1	25898	broad.mit.edu	37	chr4	76419364	76419364	+	Frame_Shift_Del	DEL	G	G	-																															taagttacatttcaaacaatGgaaaaaatcttcctttggac																										TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:76419364delG	ENST00000324439.5	-	4	750	c.352delC	c.(352-354)catfs	p.H118fs	RCHY1_ENST00000514021.1_5'UTR|RCHY1_ENST00000512706.1_Frame_Shift_Del_p.H96fs|RCHY1_ENST00000451788.1_Frame_Shift_Del_p.H118fs|RCHY1_ENST00000380840.2_Frame_Shift_Del_p.H78fs|RCHY1_ENST00000513257.1_Frame_Shift_Del_p.H118fs	NM_001278536.1|NM_001278538.1|NM_001278539.1	NP_001265465.1|NP_001265467.1|NP_001265468.1	Q96PM5	ZN363_HUMAN	ring finger and CHY zinc finger domain containing 1, E3 ubiquitin protein ligase	118					positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein autoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nuclear speck|ubiquitin ligase complex	electron carrier activity|p53 binding|protein homodimerization activity|ubiquitin-protein ligase activity|zinc ion binding			large_intestine(2)|pancreas(1)	3			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			TTCAAACAATGGAAAAAATCT	0.279													-	76419364	G	-	76419364	7	5	699	1	0	1	0	1	0	0	0	0	13265	1348	47	0	457	0	RCHY1	4	76419364	Frame_Shift_Del	DEL	G	TCGA-S9-A6U0-01A-12D-A32B-08	5798503	76419364	114734912	11	54082											
FRAS1	80144	broad.mit.edu	37	chr4	79432471	79432471	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggaggttccatgtgcgttGtgtggccaaggctgtggaca	6	10	16	9	2	0	0	0	0	0	0	1	2	1	2	3	5	1	3	3	5	1	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:79432471G>T	ENST00000264895.6	+	64	10264	c.9824G>T	c.(9823-9825)tGt>tTt	p.C3275F		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	3270					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						CATGTGCGTTGTGTGGCCAAG	0.507													T	79432471	G	T	79432471	3	4	699	1	0	0	0	0	1	0	0	0	6093	1377	48	4	10153	4	FRAS1	4	79432471	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	3013107	79432471	111721805	12	54083											
ASB5	140458	broad.mit.edu	37	chr4	177142709	177142709	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggactgccttgggagcatgCgttgaataacggagtcacgc	9	9	14	9	3	1	1	1	1	0	0	1	4	1	4	1	3	4	2	1	3	2	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr4:177142709C>T	ENST00000296525.3	-	4	540	c.427G>A	c.(427-429)Gca>Aca	p.A143T	ASB5_ENST00000512254.1_Missense_Mutation_p.A90T|ASB5_ENST00000511879.1_5'UTR	NM_080874.3	NP_543150.1	Q8WWX0	ASB5_HUMAN	ankyrin repeat and SOCS box containing 5	143					intracellular signal transduction					endometrium(2)|kidney(1)|large_intestine(9)|lung(18)|prostate(2)|skin(2)	34		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.13e-20)|Epithelial(43;9.94e-18)|OV - Ovarian serous cystadenocarcinoma(60;2e-09)|GBM - Glioblastoma multiforme(59;0.000254)|STAD - Stomach adenocarcinoma(60;0.000653)|LUSC - Lung squamous cell carcinoma(193;0.0393)		TGGGAGCATGCGTTGAATAAC	0.483													T	177142709	C	T	177142709	3	4	699	1	0	0	0	0	1	0	0	0	1031	768	27	1	578	1	ASB5	4	177142709	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	97710238	177142709	14011567	13	54084											
SLCO4C1	353189	broad.mit.edu	37	chr5	101631621	101631621	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggactttaccttgcgtgaCggccaagaggcagtagtgaa	10	9	13	9	2	0	3	0	2	0	1	0	4	0	4	2	3	2	2	2	3	4	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:101631621C>T	ENST00000310954.6	-	1	632	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	116					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCTTGCGTGACGGCCAAGAGG	0.642													T	101631621	C	T	101631621	3	4	699	1	0	0	0	0	1	0	0	0	14824	536	19	1	1880	1	SLCO4C1	5	101631621	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		101631621	79283639	14	54085											
FBN2	2201	broad.mit.edu	37	chr5	127641280	127641280	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaggactattgatgcagTctgcattccgctggcagaga	10	10	11	10	1	1	2	0	1	1	1	2	4	2	3	2	2	3	4	2	2	2	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:127641280T>A	ENST00000508053.1	-	50	6571	c.5597A>T	c.(5596-5598)gAc>gTc	p.D1866V	FBN2_ENST00000262464.4_Missense_Mutation_p.D1866V			P35556	FBN2_HUMAN	fibrillin 2	1866	EGF-like 30; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATTGATGCAGTCTGCATTCCG	0.438													A	127641280	T	A	127641280	3	1	699	1	0	0	0	0	1	0	0	0	5752	1667	58	5	3229	5	FBN2	5	127641280	Missense_Mutation	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	26009659	127641280	53273980	15	54086											
PCDHA2	56146	broad.mit.edu	37	chr5	140175891	140175891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccatcgaggtggccgacGtgaacgacaacgcgccggcg	8	5	15	13	8	0	1	0	1	0	0	2	4	1	1	3	3	2	0	3	3	2	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:140175891G>A	ENST00000526136.1	+	1	1342	c.1342G>A	c.(1342-1344)Gtg>Atg	p.V448M	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.V448M|PCDHA2_ENST00000520672.2_Missense_Mutation_p.V448M	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTGGCCGACGTGAACGACAA	0.647													A	140175891	G	A	140175891	3	1	699	1	0	0	0	0	1	0	0	0	11600	1145	40	1	1344	1	PCDHA2	5	140175891	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	12534611	140175891	40739369	16	54087											
ADAMTS2	9509	broad.mit.edu	37	chr5	178559266	178559266	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgtctacctcctgaatgAgcaggtgtctggctcctgca	6	11	12	12	1	2	2	0	2	2	0	4	2	4	2	3	3	3	3	3	3	2	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr5:178559266A>T	ENST00000251582.7	-	15	2356	c.2255T>A	c.(2254-2256)cTc>cAc	p.L752H		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	752	Spacer.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		CTCCTGAATGAGCAGGTGTCT	0.527													T	178559266	A	T	178559266	3	4	699	1	0	0	0	0	1	0	0	0	265	304	11	5	1412	5	ADAMTS2	5	178559266	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08	38383375	178559266	2355994	17	54088											
ZFAND3	60685	broad.mit.edu	37	chr6	38120150	38120150	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cgctcctgccagcgcatcggGgaggggtgctcctgaaggcc	5	6	16	14	3	0	1	0	1	0	0	3	2	2	2	4	5	3	3	4	5	1	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr6:38120150G>A	ENST00000287218.4	+	6	1116	c.669G>A	c.(667-669)ggG>ggA	p.G223G	ZFAND3_ENST00000373391.2_Silent_p.G201G|ZFAND3_ENST00000463847.1_3'UTR	NM_021943.2	NP_068762.1	Q9H8U3	ZFAN3_HUMAN	zinc finger, AN1-type domain 3	223							DNA binding|zinc ion binding			endometrium(2)|large_intestine(4)|lung(2)|ovary(1)	9						AGCGCATCGGGGAGGGGTGCT	0.567													A	38120150	G	A	38120150	2	1	699	1	0	0	0	0	0	0	0	1	17730	1219	43	2		2	ZFAND3	6	38120150	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		38120150	132994917	18	54089											
COL28A1	340267	broad.mit.edu	37	chr7	7495728	7495728	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggtccttggggtcccaCaggtcctatatccccctgca	6	11	9	15	0	0	0	0	0	0	0	4	0	4	0	5	4	1	1	5	4	2	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:7495728C>T	ENST00000399429.3	-	16	1458	c.1318G>A	c.(1318-1320)Gtg>Atg	p.V440M		NM_001037763.2	NP_001032852.2	Q2UY09	COSA1_HUMAN	collagen, type XXVIII, alpha 1	440					cell adhesion	basement membrane|collagen	serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(23)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	42		Ovarian(82;0.0789)		UCEC - Uterine corpus endometrioid carcinoma (126;0.228)		TGGGGTCCCACAGGTCCTATA	0.428													T	7495728	C	T	7495728	3	4	699	1	0	0	0	0	1	0	0	0	3717	478	17	2	2139	2	COL28A1	7	7495728	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		7495728	151642935	19	54090											
DNAH11	8701	broad.mit.edu	37	chr7	21640404	21640404	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacaccctggagacccaCacttacctctgggtggatga	12	7	10	12	0	1	3	0	1	1	2	1	5	1	4	3	3	2	0	3	3	2	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr7:21640404C>T	ENST00000328843.6	+	16	3142	c.3111C>T	c.(3109-3111)caC>caT	p.H1037H	DNAH11_ENST00000409508.3_Silent_p.H1037H			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1037	Stem (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGGAGACCCACACTTACCTCT	0.453									Kartagener syndrome				T	21640404	C	T	21640404	2	4	699	1	0	0	0	0	0	0	0	1	4638	477	17	2		2	DNAH11	7	21640404	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	14144676	21640404	137498259	20	54091											
GPIHBP1	338328	broad.mit.edu	37	chr8	144297321	144297321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcggcccccggggcagctcCgaaactgtgggcgcagccct	5	4	16	16	4	0	0	0	0	0	0	1	1	1	0	4	5	3	3	4	5	1	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr8:144297321C>T	ENST00000330824.2	+	4	558	c.483C>T	c.(481-483)tcC>tcT	p.S161S		NM_178172.3	NP_835466.1	Q8IV16	HDBP1_HUMAN	glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1	161					cholesterol homeostasis|intracellular protein transport|positive regulation of chylomicron remnant clearance|positive regulation of lipoprotein lipase activity|protein import|protein localization at cell surface|protein stabilization|response to heparin|triglyceride homeostasis	anchored to external side of plasma membrane|apical plasma membrane|basolateral plasma membrane|high-density lipoprotein particle|integral to membrane|intracellular	apolipoprotein binding|chylomicron binding|lipase binding|lipid binding|protein transmembrane transporter activity			lung(2)	2	all_cancers(97;6.49e-11)|all_epithelial(106;2.77e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					GGGGCAGCTCCGAAACTGTGG	0.701													T	144297321	C	T	144297321	2	4	699	1	0	0	0	0	0	0	0	1	6666	639	23	1		1	GPIHBP1	8	144297321	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		144297321	2066701	21	54092											
SVEP1	79987	broad.mit.edu	37	chr9	113141771	113141771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgagcaattgcattttctaCgtgagctggtggaccacatg	9	12	11	9	2	1	1	0	1	1	0	2	3	1	2	1	2	4	3	1	2	2	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr9:113141771C>T	ENST00000401783.2	-	44	10600	c.10264G>A	c.(10264-10266)Gta>Ata	p.V3422I	SVEP1_ENST00000374469.1_Missense_Mutation_p.V3399I|SVEP1_ENST00000297826.5_Missense_Mutation_p.V1348I	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	3422	Sushi 34.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCATTTTCTACGTGAGCTGGT	0.413													T	113141771	C	T	113141771	3	4	699	1	0	0	0	0	1	0	0	0	15516	536	19	1	471	1	SVEP1	9	113141771	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		113141771	28071660	22	54093											
CUL2	8453	broad.mit.edu	37	chr10	35320290	35320290	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggataacccatgaattaaacGttttgccagcattcttgcgt	11	13	8	9	2	1	1	0	1	1	0	1	2	1	2	2	1	5	2	2	1	4	6			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:35320290G>A	ENST00000374748.1	-	15	1637	c.1324C>T	c.(1324-1326)Cgt>Tgt	p.R442C	CUL2_ENST00000374749.3_Missense_Mutation_p.R442C|CUL2_ENST00000374751.3_Missense_Mutation_p.R442C|CUL2_ENST00000537177.1_Missense_Mutation_p.R461C|CUL2_ENST00000602371.1_Missense_Mutation_p.R385C|CUL2_ENST00000374742.1_Missense_Mutation_p.R442C|CUL2_ENST00000374746.1_Missense_Mutation_p.R442C			Q13617	CUL2_HUMAN	cullin 2	442					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						TGAATTAAACGTTTTGCCAGC	0.303													A	35320290	G	A	35320290	3	1	699	1	0	0	0	0	1	0	0	0	4088	1145	40	1	945	1	CUL2	10	35320290	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		35320290	100214457	23	54094											
PTEN	5728	broad.mit.edu	37	chr10	89692877	89692877	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagatgacaatcatgttgcaGcaattcactgtaaagctgga	15	10	9	7	0	2	2	2	1	0	1	2	3	2	3	0	1	3	5	0	1	5	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:89692877G>A	ENST00000371953.3	+	5	1718	c.361G>A	c.(361-363)Gca>Aca	p.A121T		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	121	Phosphatase tensin-type.		A -> G (in HNSCC).|A -> P (in glioblastoma; loss of phosphatase activity towards Ins(1,3,4,5)P4).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.A121P(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCATGTTGCAGCAATTCACTG	0.393		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692877	G	A	89692877	3	1	699	1	0	0	0	0	1	0	0	0	12823	971	34	2	379	2	PTEN	10	89692877	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	54372587	89692877	45841870	24	54095											
SORCS3	22986	broad.mit.edu	37	chr10	106602566	106602566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtcatacttatcctgaCgaagctgtatgacttcaacc	11	11	8	11	1	2	2	2	2	0	0	3	3	3	2	2	1	3	3	2	1	5	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr10:106602566C>T	ENST00000369701.3	+	2	871	c.644C>T	c.(643-645)aCg>aTg	p.T215M		NM_014978.1	NP_055793.1	Q9UPU3	SORC3_HUMAN	sortilin-related VPS10 domain containing receptor 3	215						integral to membrane	neuropeptide receptor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(19)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	131		Colorectal(252;0.134)|Breast(234;0.142)|Lung NSC(174;0.191)		Epithelial(162;1.58e-07)|all cancers(201;1.02e-05)|BRCA - Breast invasive adenocarcinoma(275;0.0628)		CTTATCCTGACGAAGCTGTAT	0.463													T	106602566	C	T	106602566	3	4	699	1	0	0	0	0	1	0	0	0	15026	536	19	1	650	1	SORCS3	10	106602566	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	16909689	106602566	28932181	25	54096											
NR1H3	10062	broad.mit.edu	37	chr11	47282968	47282968	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccagcaacagtgtaacCggcgctccttttctgaccgg	7	9	10	15	3	1	1	0	1	1	0	2	1	2	1	4	2	4	3	4	2	2	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:47282968C>T	ENST00000467728.1	+	4	1914	c.676C>T	c.(676-678)Cgg>Tgg	p.R226W	NR1H3_ENST00000441012.2_Missense_Mutation_p.R226W|NR1H3_ENST00000481889.2_Missense_Mutation_p.R181W|NR1H3_ENST00000405853.3_Missense_Mutation_p.R226W|NR1H3_ENST00000395397.3_Missense_Mutation_p.R181W|NR1H3_ENST00000527949.1_Missense_Mutation_p.R135W|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000405576.1_Missense_Mutation_p.R181W|NR1H3_ENST00000407404.1_Missense_Mutation_p.R226W			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	226	Ligand-binding (Potential).				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	p.R226W(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						ACAGTGTAACCGGCGCTCCTT	0.627													T	47282968	C	T	47282968	3	4	699	1	0	0	0	0	1	0	0	0	10694	643	23	1	690	1	NR1H3	11	47282968	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		47282968	87723548	26	54097											
MMP10	4319	broad.mit.edu	37	chr11	102647101	102647101	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggctggcatctcagatcccGaaggaacagattttgtgggc	9	10	13	9	1	1	2	1	0	1	2	3	4	2	3	1	4	1	2	1	4	2	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr11:102647101G>A	ENST00000279441.4	-	6	878	c.842C>T	c.(841-843)tCg>tTg	p.S281L		NM_002425.2	NP_002416.1	P09238	MMP10_HUMAN	matrix metallopeptidase 10 (stromelysin 2)	281					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|liver(2)|lung(6)	22	all_epithelial(12;0.00961)	all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)	Epithelial(9;0.0303)|Lung(13;0.0828)|all cancers(10;0.116)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0145)		CTCAGATCCCGAAGGAACAGA	0.478													A	102647101	G	A	102647101	3	1	699	1	0	0	0	0	1	0	0	0	9724	1059	37	1	608	1	MMP10	11	102647101	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	55364133	102647101	32359415	27	54098											
DGKA	1606	broad.mit.edu	37	chr12	56335069	56335069	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaacacccacccacttctcGtctttgtcaatcctaagagt	10	12	4	15	1	3	1	1	0	2	1	5	1	4	1	3	0	1	0	3	0	3	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr12:56335069G>A	ENST00000331886.5	+	14	1589	c.1135G>A	c.(1135-1137)Gtc>Atc	p.V379I	DGKA_ENST00000549079.2_3'UTR|DGKA_ENST00000551156.1_Missense_Mutation_p.V379I|DGKA_ENST00000394147.1_Missense_Mutation_p.V379I	NM_001345.4	NP_001336.2	P23743	DGKA_HUMAN	diacylglycerol kinase, alpha 80kDa	379	DAGKc.			V -> L (in Ref. 2; AAC34802).	activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity	p.V379I(1)		breast(1)|endometrium(3)|large_intestine(1)|lung(11)|ovary(4)|pancreas(1)|skin(3)|urinary_tract(1)	25					Vitamin E(DB00163)	CCCACTTCTCGTCTTTGTCAA	0.493													A	56335069	G	A	56335069	3	1	699	1	0	0	0	0	1	0	0	0	4504	1145	40	1	1185	1	DGKA	12	56335069	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		56335069	77516826	28	54099											
KLF5	688	broad.mit.edu	37	chr13	73649880	73649880	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagtgtacctgggaaggctgCgactggaggttcgcgcgatc	8	8	16	9	4	0	0	0	0	0	0	2	4	0	2	1	4	2	3	1	4	3	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr13:73649880C>T	ENST00000377687.4	+	4	1766	c.1230C>T	c.(1228-1230)tgC>tgT	p.C410C	KLF5_ENST00000539231.1_Silent_p.C319C	NM_001730.3	NP_001721.2	Q13887	KLF5_HUMAN	Kruppel-like factor 5 (intestinal)	410					transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Prostate(6;0.00187)|Breast(118;0.0735)		GBM - Glioblastoma multiforme(99;0.0011)		GGGAAGGCTGCGACTGGAGGT	0.572													T	73649880	C	T	73649880	2	4	699	1	0	0	0	0	0	0	0	1	8407	776	27	1		1	KLF5	13	73649880	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		73649880	41519998	29	54100											
LRP10	26020	broad.mit.edu	37	chr14	23346491	23346491	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacgtctccagcccccactActgtccctgaagccccaggg	7	6	9	19	1	1	1	0	1	1	0	3	1	2	1	6	1	3	1	6	1	2	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr14:23346491A>G	ENST00000359591.4	+	7	2588	c.1897A>G	c.(1897-1899)Act>Gct	p.T633A	LRP10_ENST00000546834.1_Intron|LRP10_ENST00000470660.1_Intron	NM_014045.3	NP_054764.2	Q7Z4F1	LRP10_HUMAN	low density lipoprotein receptor-related protein 10	633	Pro-rich.				endocytosis	coated pit|integral to membrane				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(7)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(2)	32	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.00549)		AGCCCCCACTACTGTCCCTGA	0.672													G	23346491	A	G	23346491	3	3	699	1	0	0	0	0	1	0	0	0	9022	391	14	3	1923	3	LRP10	14	23346491	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08		23346491	84003049	30	54101											
SPG11	80208	broad.mit.edu	37	chr15	44949465	44949465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctaaatccacatgagctaCatatgtaccatccacaacat	15	10	4	12	0	0	1	0	1	0	0	2	1	2	1	3	0	5	3	3	0	6	4			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:44949465C>T	ENST00000261866.7	-	4	713	c.697G>A	c.(697-699)Gta>Ata	p.V233I	SPG11_ENST00000535302.2_Missense_Mutation_p.V233I|SPG11_ENST00000559193.1_Missense_Mutation_p.V233I|SPG11_ENST00000558319.1_Missense_Mutation_p.V233I|SPG11_ENST00000427534.2_Missense_Mutation_p.V233I	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	233					cell death	cytosol|integral to membrane|nucleus	protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		ACATGAGCTACATATGTACCA	0.363													T	44949465	C	T	44949465	3	4	699	1	0	0	0	0	1	0	0	0	15137	478	17	2	6782	2	SPG11	15	44949465	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		44949465	57581927	31	54102											
TEX9	374618	broad.mit.edu	37	chr15	56686955	56686955	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatgcaacagtctcaagtaGaaaaatacaaaactcttttc	18	11	4	8	0	2	1	1	0	2	1	4	1	2	1	0	0	4	2	0	0	9	5			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:56686955G>A	ENST00000558083.2	+	8	856	c.526G>A	c.(526-528)Gaa>Aaa	p.E176K	TEX9_ENST00000561221.2_Missense_Mutation_p.E251K|TEX9_ENST00000352903.2_Missense_Mutation_p.E251K|TEX9_ENST00000560582.1_Missense_Mutation_p.E7K|TEX9_ENST00000537232.1_Missense_Mutation_p.E176K|RP11-48G14.2_ENST00000564401.1_lincRNA			Q8N6V9	TEX9_HUMAN	testis expressed 9	251								p.E251Q(1)		cervix(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(1)	14				all cancers(107;0.0394)|GBM - Glioblastoma multiforme(80;0.056)		GTCTCAAGTAGAAAAATACAA	0.303													A	56686955	G	A	56686955	3	1	699	1	0	0	0	0	1	0	0	0	15884	943	33	2	785	2	TEX9	15	56686955	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	11737490	56686955	45844437	32	54103											
WDR93	56964	broad.mit.edu	37	chr15	90246288	90246288	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctaaacaaatatatgcGtgggagaagcttaaggttga	15	10	12	4	1	0	2	0	1	0	1	0	3	0	2	0	2	4	3	0	2	7	5			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr15:90246288G>A	ENST00000268130.7	+	3	512	c.411G>A	c.(409-411)gcG>gcA	p.A137A	WDR93_ENST00000560294.1_Silent_p.A137A|WDR93_ENST00000558000.1_Silent_p.A137A	NM_020212.1	NP_064597.1	Q6P2C0	WDR93_HUMAN	WD repeat domain 93	137					electron transport chain	mitochondrial inner membrane	oxidoreductase activity, acting on NADH or NADPH			NS(1)|breast(3)|endometrium(2)|kidney(4)|large_intestine(5)|liver(2)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	33	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			AAATATATGCGTGGGAGAAGC	0.393													A	90246288	G	A	90246288	2	1	699	1	0	0	0	0	0	0	0	1	17442	1132	40	1		1	WDR93	15	90246288	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	33559333	90246288	12285104	33	54104											
ITGAX	3687	broad.mit.edu	37	chr16	31374348	31374348	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcggggccccccattactaCgagcagacccgagggggcca	9	4	13	15	3	0	1	0	0	0	1	1	3	0	1	5	4	3	1	5	4	2	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:31374348C>T	ENST00000268296.4	+	13	1573	c.1452C>T	c.(1450-1452)taC>taT	p.Y484Y	ITGAX_ENST00000562522.1_Silent_p.Y484Y	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	484					blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						CCCATTACTACGAGCAGACCC	0.677													T	31374348	C	T	31374348	2	4	699	1	0	0	0	0	0	0	0	1	7947	547	19	1		1	ITGAX	16	31374348	Silent	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		31374348	58980405	34	54105											
COTL1	23406	broad.mit.edu	37	chr16	84651477	84651477	+	Frame_Shift_Del	DEL	T	T	-																															agccgtcgtcgcgcaccaggTtgtacgccgcccggcaagcc																										TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr16:84651477delT	ENST00000262428.4	-	1	206	c.44delA	c.(43-45)aacfs	p.N15fs	COTL1_ENST00000564057.1_5'UTR	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	15	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding			endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						GCGCACCAGGTTGTACGCCGC	0.726													-	84651477	T	-	84651477	7	5	699	1	0	1	0	1	0	0	0	0	3792	1725	60	0	400	0	COTL1	16	84651477	Frame_Shift_Del	DEL	T	TCGA-S9-A6U0-01A-12D-A32B-08	53277129	84651477	5703276	35	54106											
MYH13	8735	broad.mit.edu	37	chr17	10209888	10209888	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccaggttcttcttcatcCgctccaggtgggcgctggtg	3	12	13	13	2	3	0	1	0	2	0	6	0	6	0	3	4	0	4	3	4	0	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10209888C>T	ENST00000418404.3	-	36	5517	c.5354G>A	c.(5353-5355)cGg>cAg	p.R1785Q	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.R1785Q			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1785					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						CTTCTTCATCCGCTCCAGGTG	0.572													T	10209888	C	T	10209888	3	4	699	1	0	0	0	0	1	0	0	0	10108	652	23	1	482	1	MYH13	17	10209888	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		10209888	70985322	36	54107											
MYH13	8735	broad.mit.edu	37	chr17	10216566	10216566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actgttggccttggacagcgCcctctgcagctcggccttgg	4	10	13	14	2	1	0	0	0	1	0	2	1	1	1	3	4	3	3	3	4	0	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:10216566C>T	ENST00000418404.3	-	29	4253	c.4090G>A	c.(4090-4092)Gcg>Acg	p.A1364T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1364T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1364					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TTGGACAGCGCCCTCTGCAGC	0.637													T	10216566	C	T	10216566	3	4	699	1	0	0	0	0	1	0	0	0	10108	739	26	2	1774	2	MYH13	17	10216566	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	6678	10216566	70978644	37	54108											
COX10	1352	broad.mit.edu	37	chr17	14095349	14095349	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ccacttgttgtgctgttccgGgagttgccattctgaccttg	4	15	11	11	1	1	1	0	1	1	0	2	2	2	2	4	1	2	4	4	1	0	6			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:14095349G>C	ENST00000261643.3	+	6	816	c.739G>C	c.(739-741)Gga>Cga	p.G247R	COX10_ENST00000537334.1_Missense_Mutation_p.G30R|COX10_ENST00000536205.1_Missense_Mutation_p.G55R	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	247					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		TGCTGTTCCGGGAGTTGCCAT	0.498													C	14095349	G	C	14095349	3	2	699	1	0	0	0	0	1	0	0	0	3793	1233	43	4	761	4	COX10	17	14095349	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	3878783	14095349	67099861	38	54109											
NLE1	54475	broad.mit.edu	37	chr17	33464147	33464147	+	Translation_Start_Site	SNP	G	G	T																															tgcgctcacagcggcctgcaGttgtgtcccagatccgcaca																										TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464147G>T	ENST00000586869.1	-	0	844				NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192N|NLE1_ENST00000442241.4_Missense_Mutation_p.T234N			Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)							nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				GCGGCCTGCAGTTGTGTCCCA	0.637													T	33464147	G	T	33464147	1	4	699	1	0	0	0	0	0	0	0	0	10536	1029	36	4		4	NLE1	17	33464147	Translation_Start_Site	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	19368798	33464147	47731063	39	54110	172	2									
NLE1	54475	broad.mit.edu	37	chr17	33464148	33464148	+	Missense_Mutation	SNP	T	T	A																															gcgctcacagcggcctgcagTtgtgtcccagatccgcacac																										TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr17:33464148T>A	ENST00000442241.4	-	7	739	c.700A>T	c.(700-702)Act>Tct	p.T234S	NLE1_ENST00000593176.1_5'UTR|NLE1_ENST00000360831.5_Missense_Mutation_p.T192S|NLE1_ENST00000586869.1_5'UTR	NM_001014445.1|NM_018096.3	NP_001014445.1|NP_060566.2	Q9NVX2	NLE1_HUMAN	notchless homolog 1 (Drosophila)	234						nucleolus				NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(2)	22		Ovarian(249;0.17)				CGGCCTGCAGTTGTGTCCCAG	0.632													A	33464148	T	A	33464148	3	1	699	1	0	0	0	0	1	0	0	0	10536	1725	60	5	785	5	NLE1	17	33464148	Missense_Mutation	SNP	T	TCGA-S9-A6U0-01A-12D-A32B-08	1	33464148	47731062	40	54111	172	2									
TXNDC2	84203	broad.mit.edu	37	chr18	9887569	9887569	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acatccccaagtccccagaaGaagccatccagcccaaggag	14	3	8	16	0	0	2	0	0	0	2	3	3	3	3	7	1	2	0	7	1	4	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr18:9887569G>A	ENST00000357775.5	+	2	1127	c.892G>A	c.(892-894)Gaa>Aaa	p.E298K	TXNDC2_ENST00000536353.2_3'UTR|TXNDC2_ENST00000306084.6_Missense_Mutation_p.E365K	NM_032243.5	NP_115619.4	Q86VQ3	TXND2_HUMAN	thioredoxin domain containing 2 (spermatozoa)		22 X 15 AA approximate tandem repeat of Q-P-K-X-G-D-I-P-K-S-[PS]-E-[KE]-X-I.				cell differentiation|cell redox homeostasis|glycerol ether metabolic process|multicellular organismal development|spermatogenesis	cytoplasm	electron carrier activity|nutrient reservoir activity|protein disulfide oxidoreductase activity|thioredoxin-disulfide reductase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|skin(7)|urinary_tract(1)	31						GTCCCCAGAAGAAGCCATCCA	0.567													A	9887569	G	A	9887569	3	1	699	1	0	0	0	0	1	0	0	0	16899	943	33	2	1099	2	TXNDC2	18	9887569	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		9887569	68189679	41	54112											
OR7G1	125962	broad.mit.edu	37	chr19	9226075	9226075	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggcaaatggccacatagCggtcgtaggccatgactgca	10	7	14	10	2	0	1	0	1	0	0	1	1	0	1	2	5	2	3	2	5	3	2	rs140073167	byFrequency	TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:9226075C>T	ENST00000293614.1	-	1	364	c.365G>A	c.(364-366)cGc>cAc	p.R122H	OR7G1_ENST00000541538.1_Missense_Mutation_p.R122H			Q8NGA0	OR7G1_HUMAN	olfactory receptor, family 7, subfamily G, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R122H(1)		breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(2)|skin(2)	20						GGCCACATAGCGGTCGTAGGC	0.483													T	9226075	C	T	9226075	3	4	699	1	0	0	0	0	1	0	0	0	11298	768	27	1	644	1	OR7G1	19	9226075	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		9226075	49902908	42	54113											
CYP4F2	8529	broad.mit.edu	37	chr19	16006353	16006353	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccggatgatgtcggggtgGcacaaactgaggagggggga	10	5	20	6	2	0	2	0	2	0	0	1	6	0	5	1	8	1	1	1	8	1	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:16006353G>A	ENST00000221700.6	-	3	401	c.306C>T	c.(304-306)tgC>tgT	p.C102C	CYP4F2_ENST00000011989.7_Intron	NM_001082.3	NP_001073.3	P78329	CP4F2_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 2						leukotriene metabolic process|long-chain fatty acid metabolic process|very long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|leukotriene-B4 20-monooxygenase activity|oxygen binding|protein binding	p.C102C(1)		NS(2)|breast(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						TGTCGGGGTGGCACAAACTGA	0.597													A	16006353	G	A	16006353	2	1	699	1	0	0	0	0	0	0	0	1	4221	1195	42	2		2	CYP4F2	19	16006353	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	6780278	16006353	43122630	43	54114											
PRX	57716	broad.mit.edu	37	chr19	40903766	40903766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgaggccccgacgcaggcGggagaacttgggaaaggaga	11	5	17	8	3	0	3	0	1	0	2	0	7	0	4	2	5	1	1	2	5	2	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:40903766G>A	ENST00000324001.7	-	7	763	c.493C>T	c.(493-495)Cgc>Tgc	p.R165C	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	165	Arg/Lys-rich (basic).				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CGACGCAGGCGGGAGAACTTG	0.662													A	40903766	G	A	40903766	3	1	699	1	0	0	0	0	1	0	0	0	12727	1116	39	1	3896	1	PRX	19	40903766	Missense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	24897413	40903766	18225217	44	54115											
PSG7	5676	broad.mit.edu	37	chr19	43439576	43439576	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtataaggtgaaggtgaaaCgtccagttactcctccagtc	11	10	11	9	1	0	2	0	2	0	0	4	2	3	2	3	3	2	2	3	3	5	3			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr19:43439576C>T	ENST00000446844.3	-	0	499				PSG7_ENST00000406070.2_RNA			Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				GAAGGTGAAACGTCCAGTTAC	0.507													T	43439576	C	T	43439576	1	4	699	0	1	0	0	0	0	0	0	0	12745	536	19	1		1	PSG7	19	43439576	RNA	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08	2535810	43439576	15689407	45	54116											
PCSK2	5126	broad.mit.edu	37	chr20	17462502	17462502	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gaagacgcccgaggcacctgGaccctggagctgggatttgt	8	7	15	11	2	0	1	0	0	0	1	0	6	0	4	3	4	1	2	3	4	1	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr20:17462502G>A	ENST00000262545.2	+	12	2019	c.1704G>A	c.(1702-1704)tgG>tgA	p.W568*	PCSK2_ENST00000459871.1_3'UTR|PCSK2_ENST00000377899.1_Nonsense_Mutation_p.W549*|PCSK2_ENST00000536609.1_Nonsense_Mutation_p.W533*	NM_002594.3	NP_002585.2	P16519	NEC2_HUMAN	proprotein convertase subtilisin/kexin type 2	568					enkephalin processing|insulin processing|islet amyloid polypeptide processing	extracellular space|membrane|soluble fraction|transport vesicle	serine-type endopeptidase activity			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|lung(17)|ovary(3)|pancreas(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	53					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	GAGGCACCTGGACCCTGGAGC	0.632													A	17462502	G	A	17462502	4	1	699	1	0	0	0	0	0	1	0	0	11677	1183	41	2	1750	2	PCSK2	20	17462502	Nonsense_Mutation	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08		17462502	45563018	46	54117											
PWP2	5822	broad.mit.edu	37	chr21	45547815	45547815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgcttaatttcccagggCgctgctgggcggccaccacc	6	8	11	16	2	0	0	0	0	0	0	1	0	1	0	4	3	2	3	4	3	1	2			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chr21:45547815C>T	ENST00000291576.7	+	18	2270	c.2143C>T	c.(2143-2145)Cgc>Tgc	p.R715C	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	715						cytoplasm|nucleolus	signal transducer activity			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTTCCCAGGGCGCTGCTGGGC	0.478													T	45547815	C	T	45547815	3	4	699	1	0	0	0	0	1	0	0	0	12932	768	27	1	2213	1	PWP2	21	45547815	Missense_Mutation	SNP	C	TCGA-S9-A6U0-01A-12D-A32B-08		45547815	2582080	47	54118											
ZCCHC12	170261	broad.mit.edu	37	chrX	117960276	117960276	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtggtgaggaaggccactcaAaagaaacctgtgacaacgag	15	5	13	8	1	1	3	1	2	0	1	1	5	1	4	2	3	2	0	2	3	5	0			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:117960276A>G	ENST00000310164.2	+	4	1576	c.1069A>G	c.(1069-1071)Aaa>Gaa	p.K357E		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	357					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						AGGCCACTCAAAAGAAACCTG	0.488													G	117960276	A	G	117960276	3	3	699	1	0	0	0	0	1	0	0	0	17682	15	1	3	1071	3	ZCCHC12	23	117960276	Missense_Mutation	SNP	A	TCGA-S9-A6U0-01A-12D-A32B-08		117960276	37310284	48	54119											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299212	125299212	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agacccacctcgctgtgccaGgcaatgctgccattaaacat	11	8	8	14	1	0	1	0	0	0	1	1	1	0	1	4	1	4	3	4	1	3	1			TCGA-S9-A6U0-01A-12D-A32B-08	TCGA-S9-A6U0-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57e03857-ca5a-4be2-a3a7-cc0f01009cc1	43340bd6-bcc0-4da3-8241-5718570d94dc	g.chrX:125299212G>T	ENST00000538699.1	-	2	776	c.696C>A	c.(694-696)gcC>gcA	p.A232A	DCAF12L2_ENST00000360028.2_Silent_p.A232A	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	232										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CGCTGTGCCAGGCAATGCTGC	0.637													T	125299212	G	T	125299212	2	4	699	1	0	0	0	0	0	0	0	1	4299	987	35	4		4	DCAF12L2	23	125299212	Silent	SNP	G	TCGA-S9-A6U0-01A-12D-A32B-08	7338936	125299212	29971348	49	54120											
USP48	84196	broad.mit.edu	37	chr1	22030798	22030798	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgaagggtttacatctccCacttcaattctcgtgatttt	8	17	6	10	1	4	2	1	2	3	0	6	2	4	2	1	1	1	1	1	1	3	6			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:22030798C>T	ENST00000308271.9	-	20	3120	c.2472G>A	c.(2470-2472)gtG>gtA	p.V824V	USP48_ENST00000529637.1_Silent_p.V836V|USP48_ENST00000374732.3_Silent_p.V362V|USP48_ENST00000400301.1_Silent_p.V824V	NM_032236.5	NP_115612.4	Q86UV5	UBP48_HUMAN	ubiquitin specific peptidase 48	824	DUSP 3.				ubiquitin-dependent protein catabolic process	mitochondrion|nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(14)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	42		Colorectal(325;3.46e-05)|all_lung(284;4.29e-05)|Lung NSC(340;4.66e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|OV - Ovarian serous cystadenocarcinoma(117;4.74e-26)|COAD - Colon adenocarcinoma(152;1.3e-05)|GBM - Glioblastoma multiforme(114;1.86e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000614)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(1967;0.00711)|Lung(427;0.0327)|READ - Rectum adenocarcinoma(331;0.0657)|LUSC - Lung squamous cell carcinoma(448;0.0753)		TTACATCTCCCACTTCAATTC	0.358													T	22030798	C	T	22030798	2	4	700	1	0	0	0	0	0	0	0	1	17181	581	21	2		2	USP48	1	22030798	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		22030798	227219823	1	54121											
ECM1	1893	broad.mit.edu	37	chr1	150483973	150483973	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attctgtgaggccgagttctCggtcaagacccgaccccact	8	9	10	14	3	3	2	1	1	2	1	4	4	3	2	4	2	0	1	4	2	1	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:150483973C>T	ENST00000369047.4	+	7	874	c.749C>T	c.(748-750)tCg>tTg	p.S250L	ECM1_ENST00000470432.1_3'UTR|ECM1_ENST00000369049.4_Missense_Mutation_p.S277L|ECM1_ENST00000346569.6_Intron	NM_004425.3	NP_004416.2	Q16610	ECM1_HUMAN	extracellular matrix protein 1	250	2 X approximate repeats.				angiogenesis|biomineral tissue development|negative regulation of bone mineralization|negative regulation of peptidase activity|ossification|positive regulation of angiogenesis|positive regulation of endothelial cell proliferation|positive regulation of I-kappaB kinase/NF-kappaB cascade	proteinaceous extracellular matrix	laminin binding|protease binding|protein C-terminus binding|signal transducer activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|urinary_tract(1)	22	all_cancers(9;3.13e-53)|all_epithelial(9;3.74e-43)|all_lung(15;2.43e-34)|Lung NSC(24;8.86e-31)|Breast(34;0.000326)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0395)|Hepatocellular(266;0.108)|Melanoma(130;0.128)|Colorectal(459;0.171)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0757)|all cancers(9;1.29e-21)|BRCA - Breast invasive adenocarcinoma(12;0.000734)|LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.206)			GCCGAGTTCTCGGTCAAGACC	0.632													T	150483973	C	T	150483973	3	4	700	1	0	0	0	0	1	0	0	0	4936	893	31	1	775	1	ECM1	1	150483973	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	128453175	150483973	98766648	2	54122											
PLEKHA6	22874	broad.mit.edu	37	chr1	204214034	204214034	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggacccctgagagcccgaCaccagtgaaaaggggctcag	11	3	15	12	1	1	2	1	2	0	1	1	5	1	3	4	4	1	1	4	4	2	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:204214034C>A	ENST00000272203.3	-	15	2446	c.2130G>T	c.(2128-2130)gtG>gtT	p.V710V	PLEKHA6_ENST00000414478.1_Silent_p.V730V	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	710										breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			GAGAGCCCGACACCAGTGAAA	0.627													A	204214034	C	A	204214034	2	1	700	1	0	0	0	0	0	0	0	1	12137	465	17	4		4	PLEKHA6	1	204214034	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	53730061	204214034	45036587	3	54123											
C1orf95	375057	broad.mit.edu	37	chr1	226784542	226784542	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cactgtgctgtgcggggcccGcaccgacctcccggacaggc	5	5	14	17	4	0	0	0	0	0	0	1	2	1	1	4	4	2	2	4	4	0	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:226784542G>A	ENST00000366789.4	+	2	347	c.242G>A	c.(241-243)cGc>cAc	p.R81H	C1orf95_ENST00000366788.3_Missense_Mutation_p.R81H			Q69YW2	CA095_HUMAN	chromosome 1 open reading frame 95	81						integral to membrane				large_intestine(1)|lung(4)|ovary(3)	8	Breast(184;0.133)	Prostate(94;0.0885)		GBM - Glioblastoma multiforme(131;0.113)		TGCGGGGCCCGCACCGACCTC	0.617													A	226784542	G	A	226784542	3	1	700	1	0	0	0	0	1	0	0	0	2093	1087	38	1	248	1	C1orf95	1	226784542	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	22570508	226784542	22466079	4	54124											
URB2	9816	broad.mit.edu	37	chr1	229773923	229773923	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgactctgttctttttggCcccagaactgcatcccaaaa	9	14	6	12	0	2	2	0	1	2	1	3	2	3	2	3	1	2	2	3	1	3	4			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr1:229773923C>T	ENST00000258243.2	+	4	3699	c.3563C>T	c.(3562-3564)gCc>gTc	p.A1188V		NM_014777.2	NP_055592.2	Q14146	URB2_HUMAN	URB2 ribosome biogenesis 2 homolog (S. cerevisiae)	1188						nucleolus				breast(1)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(6)	73						TTCTTTTTGGCCCCAGAACTG	0.453													T	229773923	C	T	229773923	3	4	700	1	0	0	0	0	1	0	0	0	17127	739	26	2	3573	2	URB2	1	229773923	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	2989381	229773923	19476698	5	54125											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	700	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		209113113	34086260	6	54126											
SCN5A	6331	broad.mit.edu	37	chr3	38622756	38622756	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgcaggcccctctggatgCgggccagggccagctggagg	6	4	18	13	2	1	0	0	0	1	0	1	2	1	2	4	6	3	2	4	6	0	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr3:38622756C>A	ENST00000413689.1	-	17	3087	c.2894G>T	c.(2893-2895)cGc>cTc	p.R965L	SCN5A_ENST00000455624.2_Missense_Mutation_p.R965L|SCN5A_ENST00000423572.2_Missense_Mutation_p.R965L|SCN5A_ENST00000451551.2_Missense_Mutation_p.R965L|SCN5A_ENST00000449557.2_Missense_Mutation_p.R965L|SCN5A_ENST00000333535.4_Missense_Mutation_p.R965L|SCN5A_ENST00000414099.2_Missense_Mutation_p.R965L|SCN5A_ENST00000443581.1_Missense_Mutation_p.R965L|SCN5A_ENST00000450102.2_Missense_Mutation_p.R965L|SCN5A_ENST00000425664.1_Missense_Mutation_p.R965L	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	965			R -> C (in BRS1; steady state inactivation shifted to a more negative potential; slower recovery from inactivation).		blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	p.R965H(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)	CCTCTGGATGCGGGCCAGGGC	0.627													A	38622756	C	A	38622756	3	1	700	1	0	0	0	0	1	0	0	0	14015	768	27	4	3204	4	SCN5A	3	38622756	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		38622756	159399674	7	54127											
ROBO2	6092	broad.mit.edu	37	chr3	77526572	77526572	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttttcctcagtgttacgAgatgacttccgacaaaaccc	11	13	6	11	2	1	2	1	1	0	1	3	4	3	2	3	0	2	1	3	0	4	5			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr3:77526572A>G	ENST00000461745.1	+	3	1296	c.396A>G	c.(394-396)cgA>cgG	p.R132R	ROBO2_ENST00000332191.8_Silent_p.R132R|ROBO2_ENST00000487694.3_Silent_p.R148R	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	132					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CAGTGTTACGAGATGACTTCC	0.463													G	77526572	A	G	77526572	2	3	700	1	0	0	0	0	0	0	0	1	13605	291	11	3		3	ROBO2	3	77526572	Silent	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08	38903816	77526572	120495858	8	54128											
PRDM9	56979	broad.mit.edu	37	chr5	23522839	23522839	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	accgttcagccctcagtctgCccccagggctgagaattggg	7	8	12	14	1	3	1	2	1	1	1	3	2	3	1	4	2	2	2	4	2	1	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr5:23522839C>T	ENST00000296682.3	+	8	909	c.727C>T	c.(727-729)Ccc>Tcc	p.P243S		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	243					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						CCTCAGTCTGCCCCCAGGGCT	0.577										HNSCC(3;0.000094)			T	23522839	C	T	23522839	3	4	700	1	0	0	0	0	1	0	0	0	12549	739	26	2	753	2	PRDM9	5	23522839	Missense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		23522839	157392421	9	54129											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576786	33576786	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagctacaaggcctccctcCgaggtaggaccagtatctga	10	8	11	12	1	1	1	0	1	1	0	3	3	3	2	4	3	2	4	4	3	5	4			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr5:33576786C>T	ENST00000504830.1	-	19	3680	c.3345G>A	c.(3343-3345)tcG>tcA	p.S1115S	ADAMTS12_ENST00000352040.3_Silent_p.S1030S	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1115	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						GGCCTCCCTCCGAGGTAGGAC	0.493										HNSCC(64;0.19)			T	33576786	C	T	33576786	2	4	700	1	0	0	0	0	0	0	0	1	257	639	23	1		1	ADAMTS12	5	33576786	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	10053947	33576786	147338474	10	54130											
GPR141	353345	broad.mit.edu	37	chr7	37780775	37780775	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattccaatgcctgtaacagCaaggttgcattttataacga	13	12	7	9	1	0	0	0	0	0	0	1	1	1	0	2	1	5	4	2	1	5	6			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr7:37780775C>T	ENST00000447769.1	+	4	1069	c.780C>T	c.(778-780)agC>agT	p.S260S	GPR141_ENST00000334425.1_Silent_p.S260S|EPDR1_ENST00000476620.1_Intron|GPR141_ENST00000461610.1_Intron			Q7Z602	GP141_HUMAN	G protein-coupled receptor 141	260						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(13)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CCTGTAACAGCAAGGTTGCAT	0.383													T	37780775	C	T	37780775	2	4	700	1	0	0	0	0	0	0	0	1	6703	709	25	2		2	GPR141	7	37780775	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		37780775	121357888	11	54131											
COL1A2	1278	broad.mit.edu	37	chr7	94054923	94054923	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtgtggtgtcttcacaggGcaaccctgggaacgatggtc	7	11	14	9	1	2	0	1	0	1	0	3	2	2	1	1	4	2	1	1	4	2	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr7:94054923G>A	ENST00000297268.6	+	43	3254	c.2783G>A	c.(2782-2784)gGc>gAc	p.G928D		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	928					axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTTCACAGGGCAACCCTGGG	0.493										HNSCC(75;0.22)			A	94054923	G	A	94054923	5	1	700	1	0	0	0	0	0	0	1	0	3709	1217	42	2	2953	2	COL1A2	7	94054923	Splice_Site	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	56274148	94054923	65083740	12	54132											
PTPDC1	138639	broad.mit.edu	37	chr9	96859944	96859944	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgatgatgaaggatgtgtccGaaggacctggtctctctgct	8	12	13	8	1	2	3	0	3	2	0	4	6	3	5	2	3	1	1	2	3	2	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr9:96859944G>A	ENST00000375360.3	+	7	1274	c.934G>A	c.(934-936)Gaa>Aaa	p.E312K	PTPDC1_ENST00000288976.3_Missense_Mutation_p.E364K	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	312							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.E364K(1)|p.E312K(1)		endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						GGATGTGTCCGAAGGACCTGG	0.468													A	96859944	G	A	96859944	3	1	700	1	0	0	0	0	1	0	0	0	12859	1059	37	1	1198	1	PTPDC1	9	96859944	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		96859944	44353487	13	54133											
SEC23IP	11196	broad.mit.edu	37	chr10	121663645	121663645	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacggatggagggcgctaCgatgtttacctctatgaccg	8	9	14	10	4	1	1	0	1	1	0	1	4	1	3	2	4	2	3	2	4	3	4			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr10:121663645C>T	ENST00000369075.3	+	4	1029	c.957C>T	c.(955-957)taC>taT	p.Y319Y	SEC23IP_ENST00000543134.1_Silent_p.Y108Y	NM_007190.3	NP_009121.1	Q9Y6Y8	S23IP_HUMAN	SEC23 interacting protein	319	Interaction with SEC23A.				Golgi organization|intracellular protein transport	endoplasmic reticulum|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment	metal ion binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	36		Lung NSC(174;0.109)|all_lung(145;0.142)|all_neural(114;0.234)		all cancers(201;0.00515)		GAGGGCGCTACGATGTTTACC	0.488													T	121663645	C	T	121663645	2	4	700	1	0	0	0	0	0	0	0	1	14086	547	19	1		1	SEC23IP	10	121663645	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		121663645	13871102	14	54134											
MS4A1	931	broad.mit.edu	37	chr11	60233595	60233595	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgagaaaaactccccatctAcccaatactgttacagcata	15	9	4	13	0	1	1	0	1	1	1	2	2	2	1	3	0	5	2	3	0	7	4			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:60233595A>C	ENST00000534668.1	+	5	827	c.538A>C	c.(538-540)Acc>Ccc	p.T180P	MS4A1_ENST00000532073.1_Missense_Mutation_p.T180P|MS4A1_ENST00000528313.1_Intron|MS4A1_ENST00000389939.2_Missense_Mutation_p.T180P|MS4A1_ENST00000345732.4_Missense_Mutation_p.T180P	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	180					B cell activation|immune response	integral to plasma membrane				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Rituximab(DB00073)|Tositumomab(DB00081)	CTCCCCATCTACCCAATACTG	0.373													C	60233595	A	C	60233595	3	2	700	1	0	0	0	0	1	0	0	0	9930	391	14	5	552	5	MS4A1	11	60233595	Missense_Mutation	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08		60233595	74772921	15	54135											
SLC22A6	9356	broad.mit.edu	37	chr11	62744652	62744652	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttctttctgagtgggggcCcacctgctctccaggtcctg	3	12	12	14	0	3	1	0	1	3	0	5	1	4	1	4	3	1	2	4	3	0	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:62744652C>T	ENST00000377871.3	-	9	1835	c.1569G>A	c.(1567-1569)tgG>tgA	p.W523*	SLC22A6_ENST00000421062.2_Nonsense_Mutation_p.W479*|SLC22A6_ENST00000360421.4_Intron|SLC22A6_ENST00000458333.2_Intron	NM_004790.4|NM_153278.2	NP_004781.2|NP_695010.1	Q4U2R8	S22A6_HUMAN	solute carrier family 22 (organic anion transporter), member 6	523					alpha-ketoglutarate transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	inorganic anion exchanger activity|protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(18)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						gagTGGGGGCCCACCTGCTCT	0.607													T	62744652	C	T	62744652	4	4	700	1	0	0	0	0	0	1	0	0	14552	624	22	2	130	2	SLC22A6	11	62744652	Nonsense_Mutation	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	2511057	62744652	72261864	16	54136											
INTS4	92105	broad.mit.edu	37	chr11	77629973	77629973	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgctgggaaggatcctcttGaggtatgatgctgggagaaa	10	10	15	6	0	1	3	0	2	1	1	2	6	2	5	1	4	2	3	1	4	3	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr11:77629973G>C	ENST00000534064.1	-	15	1850	c.1816C>G	c.(1816-1818)Caa>Gaa	p.Q606E		NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	606					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			GGATCCTCTTGAGGTATGATG	0.493													C	77629973	G	C	77629973	3	2	700	1	0	0	0	0	1	0	0	0	7838	1299	45	4	1111	4	INTS4	11	77629973	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	14885321	77629973	57376543	17	54137											
ACVRL1	94	broad.mit.edu	37	chr12	52310011	52310011	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgcccgccggaccatcGtgaatggtgagggcccaccc	8	6	13	14	3	0	3	0	2	0	1	1	4	0	4	5	3	1	0	5	3	1	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:52310011G>T	ENST00000550683.1	+	7	1383	c.1282G>T	c.(1282-1284)Gtg>Ttg	p.V428L	ACVRL1_ENST00000419526.2_Missense_Mutation_p.V240L|ACVRL1_ENST00000388922.4_Missense_Mutation_p.V414L	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	414	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CCGGACCATCGTGAATGGTGA	0.622													T	52310011	G	T	52310011	3	4	700	1	0	0	0	0	1	0	0	0	225	1145	40	4	1266	4	ACVRL1	12	52310011	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		52310011	81541884	18	54138											
TIMELESS	8914	broad.mit.edu	37	chr12	56815192	56815192	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacagctcccgccgctcagcCaccagccccagagccaagag	10	3	9	19	2	1	2	1	0	0	2	2	2	2	2	7	0	5	2	7	0	2	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:56815192C>T	ENST00000229201.4	-	23	2962	c.2808G>A	c.(2806-2808)gtG>gtA	p.V936V	TIMELESS_ENST00000554616.1_Silent_p.V434V|TIMELESS_ENST00000553532.1_Silent_p.V937V	NM_003920.3	NP_003911.2	Q9UNS1	TIM_HUMAN	timeless circadian clock	937					cell division|circadian rhythm|detection of abiotic stimulus|mitosis|morphogenesis of an epithelium|negative regulation of transcription, DNA-dependent|regulation of S phase|response to DNA damage stimulus|transcription, DNA-dependent	nuclear chromatin				NS(1)|breast(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(8)|lung(14)|ovary(7)|pancreas(2)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	49						GCCGCTCAGCCACCAGCCCCA	0.517													T	56815192	C	T	56815192	2	4	700	1	0	0	0	0	0	0	0	1	16004	581	21	2		2	TIMELESS	12	56815192	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	4505181	56815192	77036703	19	54139											
AGAP2	116986	broad.mit.edu	37	chr12	58121782	58121782	+	Frame_Shift_Del	DEL	C	C	-																															ctgactctcgatggcctggaCccaggcatcccgctcctcaa																										TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr12:58121782delC	ENST00000257897.3	-	14	1721	c.1636delG	c.(1636-1638)gtcfs	p.V546fs	AGAP2_ENST00000547588.1_Frame_Shift_Del_p.V902fs|AGAP2-AS1_ENST00000542466.2_3'UTR	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	902	G domain.				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ATGGCCTGGACCCAGGCATCC	0.567													-	58121782	C	-	58121782	7	5	700	1	0	1	0	1	0	0	0	0	368	507	18	0	894	0	AGAP2	12	58121782	Frame_Shift_Del	DEL	C	TCGA-S9-A6U1-01A-21D-A33T-08	1306590	58121782	75730113	20	54140											
CMA1	1215	broad.mit.edu	37	chr14	24974844	24974844	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgggccaccccagcacacaGaagagggcccccagagtctc	10	3	11	17	0	1	3	0	0	1	3	2	3	1	3	5	2	1	1	5	2	1	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr14:24974844G>A	ENST00000250378.3	-	5	651	c.622C>T	c.(622-624)Ctg>Ttg	p.L208L	CMA1_ENST00000206446.4_Silent_p.L97L|RP11-80A15.1_ENST00000555109.1_Intron	NM_001836.3	NP_001827.1	P23946	CMA1_HUMAN	chymase 1, mast cell	208	Peptidase S1.				interleukin-1 beta biosynthetic process|proteolysis	extracellular region	serine-type endopeptidase activity			kidney(1)|lung(8)|pancreas(1)|prostate(1)	11				GBM - Glioblastoma multiforme(265;0.0271)		CCAGCACACAGAAGAGGGCCC	0.612													A	24974844	G	A	24974844	2	1	700	1	0	0	0	0	0	0	0	1	3605	933	33	2		2	CMA1	14	24974844	Silent	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		24974844	82374696	21	54141											
SSTR1	6751	broad.mit.edu	37	chr14	38679188	38679188	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtggtcttctctcgcacCgcggccaacagcgacggcac	7	7	11	16	6	2	0	0	0	2	0	5	1	2	0	2	3	2	2	2	3	1	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr14:38679188C>G	ENST00000267377.2	+	3	1211	c.594C>G	c.(592-594)acC>acG	p.T198T		NM_001049.2	NP_001040.1	P30872	SSR1_HUMAN	somatostatin receptor 1	198					digestion|G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation|response to nutrient	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00444)	Octreotide(DB00104)	TCTCTCGCACCGCGGCCAACA	0.637													G	38679188	C	G	38679188	2	3	700	1	0	0	0	0	0	0	0	1	15293	639	23	4		4	SSTR1	14	38679188	Silent	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	13704344	38679188	68670352	22	54142											
EPB42	2038	broad.mit.edu	37	chr15	43512971	43512971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggtgatgctgcgggggctGcatacagtccagcaagccct	8	7	14	12	1	0	1	0	1	0	0	1	1	1	1	2	3	6	4	2	3	2	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:43512971G>A	ENST00000300215.3	-	1	510	c.53C>T	c.(52-54)gCa>gTa	p.A18V	EPB42_ENST00000441366.2_Intron|EPB42_ENST00000540029.1_Intron			P16452	EPB42_HUMAN	erythrocyte membrane protein band 4.2	0					erythrocyte maturation|peptide cross-linking|regulation of cell shape	cytoplasm|cytoskeleton|plasma membrane	ATP binding|protein binding|protein-glutamine gamma-glutamyltransferase activity|structural constituent of cytoskeleton			endometrium(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20		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;0.215)		GBM - Glioblastoma multiforme(94;8.7e-07)		TGCGGGGGCTGCATACAGTCC	0.582													A	43512971	G	A	43512971	3	1	700	1	0	0	0	0	1	0	0	0	5199	1319	46	2	2164	2	EPB42	15	43512971	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		43512971	59018421	23	54143											
UACA	55075	broad.mit.edu	37	chr15	70961406	70961406	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactgatccttcagttcctcGgttagtctgtgattccctga	7	15	8	11	1	2	3	1	3	1	0	6	3	5	3	3	1	1	2	3	1	2	4			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:70961406G>A	ENST00000322954.6	-	16	1802	c.1617C>T	c.(1615-1617)acC>acT	p.T539T	UACA_ENST00000560441.1_Silent_p.T524T|UACA_ENST00000539319.1_Silent_p.T430T|UACA_ENST00000379983.2_Silent_p.T526T	NM_018003.2	NP_060473.2	Q9BZF9	UACA_HUMAN	uveal autoantigen with coiled-coil domains and ankyrin repeats	539						cytoskeleton|extracellular region		p.T526T(1)|p.T539T(1)		breast(2)|endometrium(7)|kidney(4)|large_intestine(13)|lung(17)|ovary(2)|pancreas(1)|prostate(2)|skin(2)	50						TCAGTTCCTCGGTTAGTCTGT	0.383													A	70961406	G	A	70961406	2	1	700	1	0	0	0	0	0	0	0	1	16926	1103	39	1		1	UACA	15	70961406	Silent	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	27448435	70961406	31569986	24	54144											
CCDC33	80125	broad.mit.edu	37	chr15	74625122	74625122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcagaaaacgcgaagctgcGgacggagctggataagaacc	14	3	15	9	4	0	2	0	0	0	2	0	6	0	5	1	4	5	3	1	4	5	1			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:74625122G>A	ENST00000321288.5	+	18	2483	c.2483G>A	c.(2482-2484)cGg>cAg	p.R828Q	CCDC33_ENST00000268082.4_Missense_Mutation_p.R218Q|CCDC33_ENST00000398814.3_Missense_Mutation_p.R625Q|CCDC33_ENST00000558821.1_Missense_Mutation_p.R218Q			Q8N5R6	CCD33_HUMAN	coiled-coil domain containing 33	828							protein binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(17)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						GCGAAGCTGCGGACGGAGCTG	0.602													A	74625122	G	A	74625122	3	1	700	1	0	0	0	0	1	0	0	0	2833	1116	39	1	2009	1	CCDC33	15	74625122	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	3663716	74625122	27906270	25	54145											
OR4F6	390648	broad.mit.edu	37	chr15	102346232	102346232	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtgtagttcagatcttctttAtccatgcagttgggggaact	8	15	11	7	0	3	1	1	0	2	1	4	2	4	2	1	2	2	4	1	2	3	6			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr15:102346232A>G	ENST00000328882.4	+	1	331	c.310A>G	c.(310-312)Atc>Gtc	p.I104V		NM_001005326.1	NP_001005326.1	Q8NGB9	OR4F6_HUMAN	olfactory receptor, family 4, subfamily F, member 6	104					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|large_intestine(1)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	22	Lung NSC(78;0.000991)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.00039)|Lung(145;0.17)|LUSC - Lung squamous cell carcinoma(107;0.187)			GATCTTCTTTATCCATGCAGT	0.458													G	102346232	A	G	102346232	3	3	700	1	0	0	0	0	1	0	0	0	11142	449	16	3	312	3	OR4F6	15	102346232	Missense_Mutation	SNP	A	TCGA-S9-A6U1-01A-21D-A33T-08	27721110	102346232	185160	26	54146											
VAC14	55697	broad.mit.edu	37	chr16	70834803	70834803	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatccttctcggggttcaTggtggcagctgggggaacct	7	10	15	9	1	2	0	1	0	1	0	4	2	3	1	2	6	2	3	2	6	2	2			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr16:70834803T>C	ENST00000261776.5	-	1	261	c.1A>G	c.(1-3)Atg>Gtg	p.M1V		NM_018052.3	NP_060522.3	Q08AM6	VAC14_HUMAN	Vac14 homolog (S. cerevisiae)	1					interspecies interaction between organisms	endoplasmic reticulum|endosome membrane|microsome	protein binding|receptor activity			breast(2)|endometrium(2)|kidney(10)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	33		Ovarian(137;0.0699)				TCGGGGTTCATGGTGGCAGCT	0.697													C	70834803	T	C	70834803	1	2	700	1	0	0	0	0	0	0	0	0	17213	1464	51	3		3	VAC14	16	70834803	Translation_Start_Site	SNP	T	TCGA-S9-A6U1-01A-21D-A33T-08		70834803	19519950	27	54147											
DSG1	1828	broad.mit.edu	37	chr18	28919761	28919761	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tattaacattcaaagttttgGtaatgacgacaggactaata	16	13	7	5	1	1	1	1	1	0	0	1	3	1	2	0	2	1	2	0	2	6	8			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr18:28919761G>A	ENST00000257192.4	+	11	1672	c.1460G>A	c.(1459-1461)gGt>gAt	p.G487D		NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	487	Cadherin 4.				calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			CAAAGTTTTGGTAATGACGAC	0.328													A	28919761	G	A	28919761	3	1	700	1	0	0	0	0	1	0	0	0	4815	1261	44	2	1502	2	DSG1	18	28919761	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		28919761	49157487	28	54148											
SEL1L2	80343	broad.mit.edu	37	chr20	13850848	13850848	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catgaaggccgattgcattgCcctagaagagttttataaag	13	11	10	7	1	0	3	0	1	0	2	0	4	0	3	2	1	2	2	2	1	6	6			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr20:13850848C>T	ENST00000284951.5	-	13	1180	c.1106G>A	c.(1105-1107)gGc>gAc	p.G369D	SEL1L2_ENST00000378072.5_Splice_Site_p.G369D|SEL1L2_ENST00000486903.1_5'UTR			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	369						integral to membrane	binding			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						GATTGCATTGCCCTAGAAGAG	0.338													T	13850848	C	T	13850848	5	4	700	1	0	0	0	0	0	0	1	0	14104	753	26	2	992	2	SEL1L2	20	13850848	Splice_Site	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08		13850848	49174672	29	54149											
XKR3	150165	broad.mit.edu	37	chr22	17264884	17264884	+	Frame_Shift_Del	DEL	A	A	-																															ccccacctctgtctcccgtcAattattttgtcatctgacaa																										TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chr22:17264884delA	ENST00000331428.5	-	4	1107	c.1005delT	c.(1003-1005)attfs	p.I335fs		NM_175878.3	NP_787074.2	Q5GH77	XKR3_HUMAN	XK, Kell blood group complex subunit-related family, member 3	335						integral to membrane|plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GTCTCCCGTCAATTATTTTGT	0.408													-	17264884	A	-	17264884	7	5	700	1	0	1	0	1	0	0	0	0	17534	126	5	0	378	0	XKR3	22	17264884	Frame_Shift_Del	DEL	A	TCGA-S9-A6U1-01A-21D-A33T-08		17264884	34039682	30	54150											
ZXDB	158586	broad.mit.edu	37	chrX	57619097	57619097	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgctcctgcccagcagcccGggtgtctgatcgccccgcaa	5	6	11	19	4	1	1	0	1	1	0	3	1	2	1	6	1	3	3	6	1	1	0			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:57619097G>A	ENST00000374888.1	+	1	829	c.616G>A	c.(616-618)Ggg>Agg	p.G206R		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	206					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	p.G206R(2)		NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						CCAGCAGCCCGGGTGTCTGAT	0.711													A	57619097	G	A	57619097	3	1	700	1	0	0	0	0	1	0	0	0	18348	1116	39	1	618	1	ZXDB	23	57619097	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08		57619097	97651463	31	54151											
ATRX	546	broad.mit.edu	37	chrX	76937477	76937480	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															aagcaacttgcaccttttctTctctctaccatatgctccat																										TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:76937477_76937480delTCTC	ENST00000373344.5	-	9	3482_3485	c.3268_3271delGAGA	c.(3268-3273)gagaagfs	p.EK1090fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.EK1052fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1090					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)	CACCTTTTCTTCTCTCTACCATAT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937480	TCTC	-	76937477	7	5	700	1	0	1	0	1	0	0	0	0	1213	1792	62	0	4315	0	ATRX	23	76937477	Frame_Shift_Del	DEL	TCTC	TCGA-S9-A6U1-01A-21D-A33T-08	19318380	76937477	78333083	32	54152											
PCDH19	57526	broad.mit.edu	37	chrX	99662844	99662844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacgggtgtgttgggaggcGagttttctggcacgctcacc	5	11	16	9	3	2	1	1	1	1	0	2	3	2	2	1	4	0	4	1	4	0	3			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:99662844G>A	ENST00000373034.4	-	1	2427	c.752C>T	c.(751-753)tCg>tTg	p.S251L	PCDH19_ENST00000420881.2_Missense_Mutation_p.S251L|PCDH19_ENST00000255531.7_Missense_Mutation_p.S251L	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	251	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						GTTGGGAGGCGAGTTTTCTGG	0.602													A	99662844	G	A	99662844	3	1	700	1	0	0	0	0	1	0	0	0	11590	1059	37	1	2718	1	PCDH19	23	99662844	Missense_Mutation	SNP	G	TCGA-S9-A6U1-01A-21D-A33T-08	22725367	99662844	55607716	33	54153											
FRMD7	90167	broad.mit.edu	37	chrX	131216554	131216554	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caaggtatccttgcacaacaCctgtataaaccaatttccat	14	11	4	12	0	0	0	0	0	0	0	2	0	2	0	4	1	3	3	4	1	7	5			TCGA-S9-A6U1-01A-21D-A33T-08	TCGA-S9-A6U1-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b195ecbd-19d9-44f9-87b6-f3cee5b93490	119a0ced-acee-46e4-8534-c42b39d35197	g.chrX:131216554C>A	ENST00000298542.4	-	9	917	c.742G>T	c.(742-744)Gtg>Ttg	p.V248L	FRMD7_ENST00000464296.1_Splice_Site_p.V233L|FRMD7_ENST00000370879.1_Splice_Site_p.V128L	NM_194277.2	NP_919253.1	Q6ZUT3	FRMD7_HUMAN	FERM domain containing 7	248	FERM.				regulation of neuron projection development	cytoskeleton|growth cone|neuronal cell body	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Acute lymphoblastic leukemia(192;0.000127)					TTGCACAACACCTGTATAAAC	0.448													A	131216554	C	A	131216554	5	1	700	1	0	0	0	0	0	0	1	0	6107	521	18	4	1418	4	FRMD7	23	131216554	Splice_Site	SNP	C	TCGA-S9-A6U1-01A-21D-A33T-08	31553710	131216554	24054006	34	54154											
ARID1A	8289	broad.mit.edu	37	chr1	27094325	27094325	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aatgagaagatcaccaagttGtatgagctgggtggtgagcc	12	9	14	6	0	1	4	1	3	0	2	1	5	1	4	2	2	2	3	2	2	4	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:27094325G>T	ENST00000324856.7	+	11	3404	c.3033G>T	c.(3031-3033)ttG>ttT	p.L1011F	ARID1A_ENST00000374152.2_Missense_Mutation_p.L628F|ARID1A_ENST00000457599.2_Missense_Mutation_p.L1011F	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1011					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TCACCAAGTTGTATGAGCTGG	0.483			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27094325	G	T	27094325	3	4	701	1	0	0	0	0	1	0	0	0	916	1368	48	4	3075	4	ARID1A	1	27094325	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		27094325	222156296	1	54155											
FLG	2312	broad.mit.edu	37	chr1	152280920	152280920	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtgggacccctgtcttcCtcctctgcttggccccgggt	1	13	12	15	1	2	0	0	0	2	0	4	1	4	1	6	4	1	1	6	4	0	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr1:152280920C>T	ENST00000368799.1	-	3	6477	c.6442G>A	c.(6442-6444)Gga>Aga	p.G2148R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2148	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGTCTTCCTCCTCTGCTT	0.577									Ichthyosis				T	152280920	C	T	152280920	3	4	701	1	0	0	0	0	1	0	0	0	5971	690	24	2	5747	2	FLG	1	152280920	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	125186595	152280920	96969701	2	54156											
C2orf61	285051	broad.mit.edu	37	chr2	47382321	47382321	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcttaccgaagctgtgaTgaatgattctccacccacca	11	10	6	14	1	2	3	0	3	2	0	3	4	2	3	5	0	2	1	5	0	3	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:47382321T>C	ENST00000294947.2	-	1	105	c.70A>G	c.(70-72)Atc>Gtc	p.I24V	RP11-761B3.1_ENST00000422269.1_Intron|C2orf61_ENST00000445927.2_Missense_Mutation_p.I24V	NM_173649.2	NP_775920.1	Q8N801	CB061_HUMAN	chromosome 2 open reading frame 61	24								p.0?(2)		endometrium(1)|kidney(1)|lung(2)	4		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)	Lung(47;0.0792)|LUSC - Lung squamous cell carcinoma(58;0.114)			GAAGCTGTGATGAATGATTCT	0.607													C	47382321	T	C	47382321	3	2	701	1	0	0	0	0	1	0	0	0	2201	1464	51	3	719	3	C2orf61	2	47382321	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08		47382321	195817052	3	54157											
IL1RL1	9173	broad.mit.edu	37	chr2	102964544	102964544	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagctaaaccttacaagacTaggaatggtaagtggcaaat	17	9	9	6	0	0	1	0	0	0	1	0	2	0	2	1	3	3	3	1	3	9	5			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:102964544T>C	ENST00000233954.1	+	9	1381	c.1110T>C	c.(1108-1110)acT>acC	p.T370T		NM_016232.4	NP_057316.3	Q01638	ILRL1_HUMAN	interleukin 1 receptor-like 1	370					innate immune response	integral to membrane	interleukin-1 receptor activity|receptor signaling protein activity	p.T370T(2)		NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(3)|urinary_tract(1)	16						CTTACAAGACTAGGAATGGTA	0.383													C	102964544	T	C	102964544	2	2	701	1	0	0	0	0	0	0	0	1	7721	1509	53	3		3	IL1RL1	2	102964544	Silent	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	55582223	102964544	140234829	4	54158											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	701	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	106148568	209113112	34086261	5	54159											
TRPM8	79054	broad.mit.edu	37	chr2	234905161	234905161	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagtcttctgtctgctGtgagtggtttatccatgtgt	5	17	12	7	0	3	1	0	1	3	0	4	2	4	2	1	2	1	2	1	2	1	3			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr2:234905161G>C	ENST00000324695.4	+	22	3170		c.e22+1		TRPM8_ENST00000433712.2_Splice_Site	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8							integral to membrane				breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCTGTCTGCTGTGAGTGGTTT	0.453													C	234905161	G	C	234905161	5	2	701	1	0	0	0	0	0	0	1	0	16693	1391	48	4	3213	4	TRPM8	2	234905161	Splice_Site	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	25792049	234905161	8294212	6	54160											
PIK3CA	5290	broad.mit.edu	37	chr3	178916929	178916929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taaaagtaattgaaccagtaGgcaaccgtgaagaaaagatc	19	7	9	6	1	0	4	0	2	0	2	1	4	0	4	2	1	2	3	2	1	9	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr3:178916929G>A	ENST00000263967.3	+	2	473	c.316G>A	c.(316-318)Ggc>Agc	p.G106S		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	106	PI3K-ABD.		G -> V (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.G106R(3)|p.G106_R108delGNR(2)|p.G106_R108del(1)|p.P104_G106>R(1)|p.E103_G106>D(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAACCAGTAGGCAACCGTGA	0.348		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178916929	G	A	178916929	3	1	701	1	0	0	0	0	1	0	0	0	11990	1000	35	2	318	2	PIK3CA	3	178916929	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		178916929	19105501	7	54161											
HIVEP1	3096	broad.mit.edu	37	chr6	12161698	12161698	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacagagattcagttatgagCgatctggatatgatcttgaa	14	12	10	5	1	3	4	1	3	2	1	3	7	3	5	0	1	2	1	0	1	4	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:12161698C>T	ENST00000379388.2	+	8	6846	c.6514C>T	c.(6514-6516)Cga>Tga	p.R2172*	HIVEP1_ENST00000541134.1_Nonsense_Mutation_p.R37*	NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	2172					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CAGTTATGAGCGATCTGGATA	0.383													T	12161698	C	T	12161698	4	4	701	1	0	0	0	0	0	1	0	0	7241	760	27	1	6540	1	HIVEP1	6	12161698	Nonsense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		12161698	158953369	8	54162											
DCDC2	51473	broad.mit.edu	37	chr6	24205328	24205328	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagctttgaaaatgccttCatctattgagacaaacacac	14	11	5	11	0	2	2	1	2	1	1	3	3	3	2	2	0	3	1	2	0	4	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:24205328C>T	ENST00000378454.3	-	8	1226	c.925G>A	c.(925-927)Gaa>Aaa	p.E309K	DCDC2_ENST00000378450.3_Missense_Mutation_p.E62K	NM_001195610.1|NM_016356.3	NP_001182539.1|NP_057440.2	Q9UHG0	DCDC2_HUMAN	doublecortin domain containing 2	309					cellular defense response|intracellular signal transduction|neuron migration					breast(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	32		Ovarian(999;0.101)				AAAATGCCTTCATCTATTGAG	0.413													T	24205328	C	T	24205328	3	4	701	1	0	0	0	0	1	0	0	0	4319	835	29	2	517	2	DCDC2	6	24205328	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	12043630	24205328	146909739	9	54163											
EHMT2	10919	broad.mit.edu	37	chr6	31847952	31847952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggctctgctccagggcaatgGcttcggctgagtgcttgcac	5	10	14	12	1	1	1	0	1	1	0	3	1	2	1	1	4	3	7	1	4	1	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:31847952G>A	ENST00000395728.3	-	27	3712	c.3713C>T	c.(3712-3714)gCc>gTc	p.A1238V	EHMT2_ENST00000375530.4_Missense_Mutation_p.A1147V|EHMT2_ENST00000375528.4_Missense_Mutation_p.A1204V|EHMT2_ENST00000375537.4_Missense_Mutation_p.A1181V|EHMT2_ENST00000480912.1_5'UTR			Q96KQ7	EHMT2_HUMAN	euchromatic histone-lysine N-methyltransferase 2	1181					DNA methylation|peptidyl-lysine dimethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			central_nervous_system(1)|cervix(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)	21						CAGGGCAATGGCTTCGGCTGA	0.592													A	31847952	G	A	31847952	3	1	701	1	0	0	0	0	1	0	0	0	5023	1203	42	2	94	2	EHMT2	6	31847952	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	7642624	31847952	139267115	10	54164											
DNAH8	1769	broad.mit.edu	37	chr6	38794044	38794044	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacatgatagcatttattaaTgaatacttgaaaaagttatc	17	15	5	4	0	0	3	0	3	0	0	1	3	0	3	0	0	3	2	0	0	9	8			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:38794044T>A	ENST00000359357.3	+	27	3563	c.3309T>A	c.(3307-3309)aaT>aaA	p.N1103K	DNAH8_ENST00000441566.1_Missense_Mutation_p.N1103K|DNAH8_ENST00000449981.2_Missense_Mutation_p.N1320K					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						CATTTATTAATGAATACTTGA	0.348													A	38794044	T	A	38794044	3	1	701	1	0	0	0	0	1	0	0	0	4646	1461	51	5	3407	5	DNAH8	6	38794044	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	6946092	38794044	132321023	11	54165											
SUPT3H	8464	broad.mit.edu	37	chr6	45073683	45073683	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaattaactgagtgtgtacCacatcttctaccaaaactgc	13	13	5	10	0	2	1	0	1	2	0	2	1	2	1	2	0	5	1	2	0	6	5			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:45073683C>T	ENST00000371460.1	-	5	512	c.195G>A	c.(193-195)gtG>gtA	p.V65V	SUPT3H_ENST00000371459.1_Silent_p.V54V|SUPT3H_ENST00000371461.2_Silent_p.V65V|SUPT3H_ENST00000306867.5_Silent_p.V54V	NM_181356.2	NP_852001.1	O75486	SUPT3_HUMAN	suppressor of Ty 3 homolog (S. cerevisiae)	136					histone deubiquitination|histone H3 acetylation|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	STAGA complex|transcription factor TFTC complex	DNA binding|transcription coactivator activity			breast(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)	12						GAGTGTGTACCACATCTTCTA	0.328													T	45073683	C	T	45073683	2	4	701	1	0	0	0	0	0	0	0	1	15493	581	21	2		2	SUPT3H	6	45073683	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	6279639	45073683	126041384	12	54166											
STX11	8676	broad.mit.edu	37	chr6	144508016	144508016	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctcagcagcatcaagcgCgacaccaactccatcgccaa	12	4	7	18	4	2	0	2	0	0	0	4	1	3	0	4	0	4	2	4	0	3	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr6:144508016C>T	ENST00000367568.4	+	2	435	c.252C>T	c.(250-252)cgC>cgT	p.R84R		NM_003764.3	NP_003755.2	O75558	STX11_HUMAN	syntaxin 11	84					cellular membrane fusion|intracellular protein transport|vesicle-mediated transport	Golgi apparatus|membrane	SNAP receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	12				OV - Ovarian serous cystadenocarcinoma(155;2.17e-06)|GBM - Glioblastoma multiforme(68;0.0492)		GCATCAAGCGCGACACCAACT	0.647									Familial Hemophagocytic Lymphohistiocytosis				T	144508016	C	T	144508016	2	4	701	1	0	0	0	0	0	0	0	1	15433	755	27	1		1	STX11	6	144508016	Silent	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	99434333	144508016	26607051	13	54167											
SUN3	256979	broad.mit.edu	37	chr7	48034064	48034064	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaaaagcccagcactttcCagggtagacatccggctgga	11	7	12	11	1	0	1	0	0	0	1	2	3	2	3	3	4	2	3	3	4	3	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:48034064C>T	ENST00000453192.2	-	9	916	c.673G>A	c.(673-675)Gga>Aga	p.G225R	SUN3_ENST00000297325.4_Missense_Mutation_p.G237R|SUN3_ENST00000473723.1_5'UTR|SUN3_ENST00000395572.2_Missense_Mutation_p.G237R|SUN3_ENST00000412142.1_Missense_Mutation_p.G137R	NM_001284350.1	NP_001271279.1	Q8TAQ9	SUN3_HUMAN	Sad1 and UNC84 domain containing 3	237	SUN.					integral to membrane				central_nervous_system(1)|endometrium(3)|large_intestine(8)|liver(1)|lung(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CAGCACTTTCCAGGGTAGACA	0.438													T	48034064	C	T	48034064	3	4	701	1	0	0	0	0	1	0	0	0	15489	603	21	2	376	2	SUN3	7	48034064	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		48034064	111104599	14	54168											
ZAN	7455	broad.mit.edu	37	chr7	100384030	100384033	+	RNA	DEL	TTGT	TTGT	-																															cctccaaagtttttcttttcTtgtttgtttgttttttgaga																								rs71973809		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:100384030_100384033delTTGT	ENST00000542585.1	+	0	7124				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000421100.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			ttttcttttcttgtttgtttgttt	0.505													-	100384033	TTGT	-	100384030	6	5	701	0	1	1	0	1	0	0	0	0	17615	1624	56	0		0	ZAN	7	100384030	RNA	DEL	TTGT	TCGA-S9-A6U2-01A-21D-A33T-08	52349966	100384030	58754633	15	54169											
ZNF800	168850	broad.mit.edu	37	chr7	127013897	127013897	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtgtttagtcaagttctgtTtggaagtaaactgacgttta	10	17	10	4	1	2	1	1	1	1	0	2	2	2	2	0	1	1	5	0	1	6	7			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr7:127013897T>C	ENST00000393313.1	-	5	2084	c.1493A>G	c.(1492-1494)aAa>aGa	p.K498R	ZNF800_ENST00000393312.1_Missense_Mutation_p.K498R|ZNF800_ENST00000265827.3_Missense_Mutation_p.K498R			Q2TB10	ZN800_HUMAN	zinc finger protein 800	498					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						CAAGTTCTGTTTGGAAGTAAA	0.378													C	127013897	T	C	127013897	3	2	701	1	0	0	0	0	1	0	0	0	18268	1841	64	3	509	3	ZNF800	7	127013897	Missense_Mutation	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08	26629867	127013897	32124766	16	54170											
PCM1	5108	broad.mit.edu	37	chr8	17815110	17815110	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacaaggtgaagatgatgaGgaggaggaggaagaagcaga	17	3	18	3	0	0	6	0	3	0	3	0	10	0	10	0	5	1	2	0	5	4	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:17815110G>T	ENST00000325083.8	+	13	2305	c.1866G>T	c.(1864-1866)gaG>gaT	p.E622D	PCM1_ENST00000519253.1_Missense_Mutation_p.E622D|PCM1_ENST00000524226.1_Missense_Mutation_p.E623D	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	622					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding	p.E622D(1)	PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		aagatgatgaggaggaggagg	0.418			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								T	17815110	G	T	17815110	3	4	701	1	0	0	0	0	1	0	0	0	11660	991	35	4	1908	4	PCM1	8	17815110	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		17815110	128548912	17	54171											
ZFPM2	23414	broad.mit.edu	37	chr8	106814286	106814286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctctccacctccagtaacaAtgatgacaaaattaatggaa	16	9	6	10	0	1	2	0	2	1	0	3	3	2	3	3	1	1	2	3	1	6	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:106814286A>G	ENST00000407775.2	+	8	2226	c.1976A>G	c.(1975-1977)aAt>aGt	p.N659S	RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000522296.1_3'UTR|ZFPM2_ENST00000520492.1_Missense_Mutation_p.N527S|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.N390S|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000521622.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.N527S	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	659					blood coagulation|negative regulation of fat cell differentiation|outflow tract septum morphogenesis|right ventricular cardiac muscle tissue morphogenesis|ventricular septum morphogenesis	nucleoplasm	DNA binding|RNA polymerase II transcription coactivator activity|transcription corepressor activity|transcription factor binding|zinc ion binding			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			TCCAGTAACAATGATGACAAA	0.423													G	106814286	A	G	106814286	3	3	701	1	0	0	0	0	1	0	0	0	17759	101	4	3	2006	3	ZFPM2	8	106814286	Missense_Mutation	SNP	A	TCGA-S9-A6U2-01A-21D-A33T-08	88999176	106814286	39549736	18	54172											
RAD21	5885	broad.mit.edu	37	chr8	117866545	117866545	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacagtttttctactcctCctgtctctttccacatcatc	9	16	2	14	0	3	0	1	0	2	0	8	0	6	0	3	0	2	1	3	0	3	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:117866545C>A	ENST00000297338.2	-	9	1387	c.1100G>T	c.(1099-1101)gGa>gTa	p.G367V		NM_006265.2	NP_006256.1	O60216	RAD21_HUMAN	RAD21 homolog (S. pombe)	367	Interaction with STAG1.|Interaction with WAPAL and PDS5B.				apoptosis|cell division|chromosome segregation|double-strand break repair|mitotic metaphase/anaphase transition|mitotic prometaphase|protein localization to chromatin|reciprocal meiotic recombination|regulation of transcription from RNA polymerase II promoter	chromosome, centromeric region|cohesin complex|nuclear chromosome|nucleoplasm	protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(1)|stomach(1)	32	all_cancers(13;1.21e-21)|Lung NSC(37;0.000134)|Ovarian(258;0.0172)					TTCTACTCCTCCTGTCTCTTT	0.368													A	117866545	C	A	117866545	3	1	701	1	0	0	0	0	1	0	0	0	13069	855	30	4	819	4	RAD21	8	117866545	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08	11052259	117866545	28497477	19	54173											
FER1L6	654463	broad.mit.edu	37	chr8	125078688	125078688	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcccaggaagccttcccGgaggtccactaagaggagaa	12	5	13	11	1	0	2	0	0	0	2	3	6	3	5	4	5	1	0	4	5	3	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr8:125078688G>A	ENST00000522917.1	+	27	3781	c.3575G>A	c.(3574-3576)cGg>cAg	p.R1192Q	FER1L6-AS2_ENST00000520031.1_RNA|FER1L6_ENST00000399018.1_Missense_Mutation_p.R1192Q	NM_001039112.2	NP_001034201.2	Q2WGJ9	FR1L6_HUMAN	fer-1-like 6 (C. elegans)	1192						integral to membrane				NS(2)|breast(3)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(18)|liver(1)|lung(49)|ovary(5)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(1)	118	Lung NSC(37;4.1e-12)|Ovarian(258;0.00438)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00186)			AAGCCTTCCCGGAGGTCCACT	0.493													A	125078688	G	A	125078688	3	1	701	1	0	0	0	0	1	0	0	0	5864	1116	39	1	3677	1	FER1L6	8	125078688	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	7212143	125078688	21285334	20	54174											
OR5J2	282775	broad.mit.edu	37	chr11	55944704	55944704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gttgctgttaaccttctccgGagtcattgccatggccacct	6	13	9	13	1	2	0	1	0	1	0	3	1	2	1	5	2	3	3	5	2	1	4			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:55944704G>A	ENST00000312298.1	+	1	611	c.611G>A	c.(610-612)gGa>gAa	p.G204E		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	204					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					ACCTTCTCCGGAGTCATTGCC	0.468													A	55944704	G	A	55944704	3	1	701	1	0	0	0	0	1	0	0	0	11241	1174	41	2	613	2	OR5J2	11	55944704	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		55944704	79061812	21	54175											
CHRM1	1128	broad.mit.edu	37	chr11	62677783	62677783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcctgggggcccGgcagcagcgacagcagcggc	7	2	17	15	3	0	0	0	0	0	0	0	1	0	0	2	4	7	5	2	4	0	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:62677783G>A	ENST00000306960.3	-	2	1331	c.790C>T	c.(790-792)Cgg>Tgg	p.R264W	AP000438.2_ENST00000543624.1_RNA	NM_000738.2	NP_000729.2	P11229	ACM1_HUMAN	cholinergic receptor, muscarinic 1	264					activation of phospholipase C activity by muscarinic acetylcholine receptor signaling pathway|activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|cell proliferation|nervous system development|positive regulation of cell proliferation|protein modification process	cell junction|integral to plasma membrane|membrane fraction|postsynaptic membrane	muscarinic acetylcholine receptor activity|phosphatidylinositol phospholipase C activity|protein binding			large_intestine(5)|lung(3)|stomach(1)	9					Anisotropine Methylbromide(DB00517)|Atropine(DB00572)|Benzquinamide(DB00767)|Benztropine(DB00245)|Bethanechol(DB01019)|Biperiden(DB00810)|Buclizine(DB00354)|Carbachol(DB00411)|Carbinoxamine(DB00748)|Cevimeline(DB00185)|Clidinium(DB00771)|Cryptenamine(DB00785)|Cyclizine(DB01176)|Cyclopentolate(DB00979)|Cycrimine(DB00942)|Desipramine(DB01151)|Dicyclomine(DB00804)|Diphenidol(DB01231)|Doxylamine(DB00366)|Ethopropazine(DB00392)|Flavoxate(DB01148)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Ipratropium(DB00332)|Methantheline(DB00940)|Methotrimeprazine(DB01403)|Methylscopolamine(DB00462)|Metixene(DB00340)|Metoclopramide(DB01233)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Oxyphenonium(DB00219)|Pilocarpine(DB01085)|Pirenzepine(DB00670)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propantheline(DB00782)|Propiomazine(DB00777)|Quinacrine(DB01103)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Thiethylperazine(DB00372)|Tolterodine(DB01036)|Tridihexethyl(DB00505)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trospium(DB00209)	CTGGGGGCCCGGCAGCAGCGA	0.657													A	62677783	G	A	62677783	3	1	701	1	0	0	0	0	1	0	0	0	3406	1115	39	1	596	1	CHRM1	11	62677783	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	6733079	62677783	72328733	22	54176											
POLA2	23649	broad.mit.edu	37	chr11	65055248	65055248	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacatctgacagcatcacGtatgaccccctgcttgacct	10	9	6	16	1	2	3	1	3	1	0	2	3	2	3	4	0	2	3	4	0	1	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr11:65055248G>A	ENST00000265465.3	+	11	1599	c.1068G>A	c.(1066-1068)acG>acA	p.T356T	POLA2_ENST00000541089.1_Silent_p.T148T	NM_002689.2	NP_002680.2	Q14181	DPOA2_HUMAN	polymerase (DNA directed), alpha 2, accessory subunit	356					DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication	nucleoplasm	DNA binding			endometrium(1)|large_intestine(2)|lung(7)|urinary_tract(1)	11					Dacarbazine(DB00851)	ACAGCATCACGTATGACCCCC	0.507													A	65055248	G	A	65055248	2	1	701	1	0	0	0	0	0	0	0	1	12265	1132	40	1		1	POLA2	11	65055248	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08	2377465	65055248	69951268	23	54177											
KRT6B	3854	broad.mit.edu	37	chr12	52843396	52843396	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cacggatgtgtctgagatgtGggtctgcatctgggacagct	7	11	15	8	1	3	1	0	1	3	1	3	4	3	3	0	3	2	2	0	3	0	0	rs142625176	by1000genomes	TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr12:52843396G>A	ENST00000252252.3	-	5	981	c.934C>T	c.(934-936)Cac>Tac	p.H312Y		NM_005555.3	NP_005546.2	P04259	K2C6B_HUMAN	keratin 6B	312	Linker 12.|Rod.				ectoderm development	keratin filament	structural constituent of cytoskeleton	p.H312N(1)		NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(19)|ovary(4)|prostate(2)	40				BRCA - Breast invasive adenocarcinoma(357;0.083)		TCTGAGATGTGGGTCTGCATC	0.512													A	52843396	G	A	52843396	3	1	701	1	0	0	0	0	1	0	0	0	8539	1348	47	2	780	2	KRT6B	12	52843396	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		52843396	81008499	24	54178											
KIF26A	26153	broad.mit.edu	37	chr14	104643172	104643172	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaagggtctggctcccaaGgcgggcttcctcccgaggcc	7	6	14	14	2	1	1	0	0	1	1	4	2	4	1	4	5	0	2	4	5	3	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr14:104643172G>A	ENST00000315264.7	+	11	4008	c.3630G>A	c.(3628-3630)aaG>aaA	p.K1210K	KIF26A_ENST00000423312.2_Silent_p.K1349K			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	1349					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		TGGCTCCCAAGGCGGGCTTCC	0.736													A	104643172	G	A	104643172	2	1	701	1	0	0	0	0	0	0	0	1	8352	991	35	2		2	KIF26A	14	104643172	Silent	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		104643172	2706368	25	54179											
TCF12	6938	broad.mit.edu	37	chr15	57565278	57565280	+	In_Frame_Del	DEL	AGA	AGA	-																															tgaacagaagatagaaagggAgaaggagaggcggatggcta																								rs78462051		TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:57565278_57565280delAGA	ENST00000267811.5	+	18	2028_2030	c.1724_1726delAGA	c.(1723-1728)gagaag>gag	p.K576del	TCF12_ENST00000333725.5_In_Frame_Del_p.K600del|TCF12_ENST00000557843.1_In_Frame_Del_p.K576del|TCF12_ENST00000452095.2_In_Frame_Del_p.K596del|TCF12_ENST00000559710.1_In_Frame_Del_p.K210del|TCF12_ENST00000537840.1_In_Frame_Del_p.K340del|TCF12_ENST00000559703.1_In_Frame_Del_p.K233del|TCF12_ENST00000438423.2_In_Frame_Del_p.K600del|TCF12_ENST00000343827.3_In_Frame_Del_p.K406del|TCF12_ENST00000543579.1_In_Frame_Del_p.K430del	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	576					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		ATAGAAAGGGAGAAGGAGAGGCG	0.414			T	TEC	extraskeletal myxoid chondrosarcoma								-	57565280	AGA	-	57565278	7	5	701	1	0	1	0	1	0	0	0	0	15787	304	11	0	1939	0	TCF12	15	57565278	In_Frame_Del	DEL	AGA	TCGA-S9-A6U2-01A-21D-A33T-08		57565278	44966114	26	54180											
HCN4	10021	broad.mit.edu	37	chr15	73615044	73615064	+	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	CCCACTGCCCCCGCTGCCACC	-																															ggaccgaggcccccgctgctCccactgcccccgctgccacc																										TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr15:73615044_73615064delCCCACTGCCCCCGCTGCCACC	ENST00000261917.3	-	8	4363_4383	c.3370_3390delGGTGGCAGCGGGGGCAGTGGG	c.(3370-3390)ggtggcagcgggggcagtgggdel	p.GGSGGSG1124del		NM_005477.2	NP_005468.1	Q9Y3Q4	HCN4_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 4	1124					blood circulation|muscle contraction	integral to membrane	cAMP binding|protein binding|sodium channel activity|voltage-gated potassium channel activity			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(13)|liver(1)|lung(18)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				COAD - Colon adenocarcinoma(1;0.142)		CCCCGCTGCTCCCACTGCCCCCGCTGCCACCCCCAGCCCTG	0.71													-	73615064	CCCACTGCCCCCGCTGCCACC	-	73615044	7	5	701	1	0	1	0	1	0	0	0	0	7054	842	30	0	225	0	HCN4	15	73615044	In_Frame_Del	DEL	CCCACTGCCCCCGCTGCCACC	TCGA-S9-A6U2-01A-21D-A33T-08	16049766	73615044	28916348	27	54181											
CDH3	1001	broad.mit.edu	37	chr16	68718504	68718504	+	Frame_Shift_Del	DEL	A	A	-																															agggtttggattttgaggccAaaaaccagcacaccctgtac																										TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr16:68718504delA	ENST00000264012.4	+	10	1745	c.1201delA	c.(1201-1203)aaafs	p.K401fs	CDH3_ENST00000581171.1_Frame_Shift_Del_p.K346fs|CDH3_ENST00000429102.2_Frame_Shift_Del_p.K401fs	NM_001793.4	NP_001784.2	P22223	CADH3_HUMAN	cadherin 3, type 1, P-cadherin (placental)	401	Cadherin 3.				adherens junction organization|cell junction assembly|homophilic cell adhesion|response to stimulus|visual perception	integral to membrane	calcium ion binding	p.?(2)		NS(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(4)|ovary(3)|skin(1)|urinary_tract(1)	25		Ovarian(137;0.0564)		OV - Ovarian serous cystadenocarcinoma(108;0.000782)|Epithelial(162;0.0054)|all cancers(182;0.0384)		TTTTGAGGCCAAAAACCAGCA	0.522													-	68718504	A	-	68718504	7	5	701	1	0	1	0	1	0	0	0	0	3141	131	5	0	1239	0	CDH3	16	68718504	Frame_Shift_Del	DEL	A	TCGA-S9-A6U2-01A-21D-A33T-08		68718504	21636249	28	54182											
ENGASE	64772	broad.mit.edu	37	chr17	77078145	77078145	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgattcgacacagacaaGgtgggtggtggctttcgtcc	7	9	15	10	3	0	1	0	0	0	1	3	3	1	1	2	5	0	1	2	5	1	2			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr17:77078145G>A	ENST00000579016.1	+	7	1038	c.1038G>A	c.(1036-1038)aaG>aaA	p.K346K	ENGASE_ENST00000584568.1_3'UTR|ENGASE_ENST00000539857.2_Silent_p.K160K	NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	346	BRCT.					cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						ACACAGACAAGGTGGGTGGTG	0.627													A	77078145	G	A	77078145	5	1	701	1	0	0	0	0	0	0	1	0	5159	1014	35	2	1064	2	ENGASE	17	77078145	Splice_Site	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		77078145	4117065	29	54183											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	10	5	13	13	3	0	2	0	1	0	1	2	4	1	3	4	4	2	0	4	4	2	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								T	42791715	C	T	42791715	3	4	701	1	0	0	0	0	1	0	0	0	3454	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-S9-A6U2-01A-21D-A33T-08		42791715	16337268	30	54184											
BCR	613	broad.mit.edu	37	chr22	23656796	23656796	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaacctcgccacggtcttTggccccacgctgctccggcc	5	7	9	20	4	1	0	0	0	1	0	3	0	2	0	6	3	2	2	6	3	1	1			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chr22:23656796T>C	ENST00000305877.8	+	22	4372	c.3621T>C	c.(3619-3621)ttT>ttC	p.F1207F	BCR_ENST00000359540.3_Silent_p.F1163F|BCR_ENST00000436990.2_3'UTR	NM_004327.3	NP_004318.3	P11274	BCR_HUMAN	breakpoint cluster region	1207	Rho-GAP.				regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	ATP binding|GTPase activator activity|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity		BCR/JAK2(6)	central_nervous_system(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	35						CCACGGTCTTTGGCCCCACGC	0.607			T	"ABL1,  FGFR1, JAK2 "	"CML, ALL, AML"								C	23656796	T	C	23656796	2	2	701	1	0	0	0	0	0	0	0	1	1393	1809	63	3		3	BCR	22	23656796	Silent	SNP	T	TCGA-S9-A6U2-01A-21D-A33T-08		23656796	27647770	31	54185											
ARHGEF9	23229	broad.mit.edu	37	chrX	62857999	62857999	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaaagacctgcgactgaGcgatgccgtcggggaccagg	10	5	14	12	4	1	2	1	1	0	1	2	5	1	3	3	3	3	0	3	3	1	0			TCGA-S9-A6U2-01A-21D-A33T-08	TCGA-S9-A6U2-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2ecbe036-e918-43d5-8ed5-27fb6e2f56fa	f132b367-6bb5-4f3a-bf26-03d87381fa65	g.chrX:62857999G>T	ENST00000253401.6	-	10	2260	c.1460C>A	c.(1459-1461)gCt>gAt	p.A487D	ARHGEF9_ENST00000433323.2_Missense_Mutation_p.A214D|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.A434D|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.A385D|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.A466D|ARHGEF9_ENST00000374878.1_Intron|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	487					apoptosis|induction of apoptosis by extracellular signals|ion transmembrane transport|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|synaptic transmission	cytosol	Rho guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						CTGCGACTGAGCGATGCCGTC	0.552													T	62857999	G	T	62857999	3	4	701	1	0	0	0	0	1	0	0	0	915	971	34	4	94	4	ARHGEF9	23	62857999	Missense_Mutation	SNP	G	TCGA-S9-A6U2-01A-21D-A33T-08		62857999	92412561	32	54186											
MARCKSL1	65108	broad.mit.edu	37	chr1	32800637	32800637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctcatctgttccgttcacaGggggcgactccccttcaccc	5	10	8	18	2	4	0	3	0	1	0	6	1	6	0	5	2	0	2	5	2	0	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:32800637G>A	ENST00000329421.7	-	2	494	c.149C>T	c.(148-150)cCt>cTt	p.P50L		NM_023009.6	NP_075385.1	P49006	MRP_HUMAN	MARCKS-like 1	50						plasma membrane	calmodulin binding			breast(1)|large_intestine(3)|lung(1)|ovary(1)	6		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				TCCGTTCACAGGGGGCGACTC	0.642													A	32800637	G	A	32800637	3	1	702	1	0	0	0	0	1	0	0	0	9385	1000	35	2	442	2	MARCKSL1	1	32800637	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		32800637	216449984	1	54187											
FRRS1	391059	broad.mit.edu	37	chr1	100194159	100194159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgaaagaacactgcataacaCcgtccgccaacctccaagcc	14	5	6	16	2	0	2	0	1	0	1	2	2	2	2	6	0	5	1	6	0	5	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:100194159C>T	ENST00000414213.1	-	9	1497	c.896G>A	c.(895-897)gGt>gAt	p.G299D	FRRS1_ENST00000287474.5_Missense_Mutation_p.G299D			Q6ZNA5	FRRS1_HUMAN	ferric-chelate reductase 1	299	DOMON.				electron transport chain|transport	integral to membrane	ferric-chelate reductase activity|metal ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(12)|pancreas(1)|skin(1)|urinary_tract(1)	26		all_epithelial(167;2.09e-06)|all_lung(203;0.000435)|Lung NSC(277;0.00201)		Epithelial(280;0.0718)|all cancers(265;0.126)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.206)		CTGCATAACACCGTCCGCCAA	0.393													T	100194159	C	T	100194159	3	4	702	1	0	0	0	0	1	0	0	0	6112	507	18	2	1020	2	FRRS1	1	100194159	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	67393522	100194159	149056462	2	54188											
GSTM2	2946	broad.mit.edu	37	chr1	110210764	110210764	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgacactggggtactggaaCatccgcggggtgagccaggg	9	6	17	9	2	0	2	0	2	0	0	1	3	1	3	2	6	3	1	2	6	2	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:110210764C>T	ENST00000369831.2	+	1	121	c.27C>T	c.(25-27)aaC>aaT	p.N9N	GSTM2_ENST00000460717.3_Silent_p.N9N|GSTM2_ENST00000369829.2_Silent_p.N9N|GSTM2_ENST00000241337.4_Silent_p.N9N|GSTM2_ENST00000414179.2_5'UTR|GSTM2_ENST00000442650.1_Silent_p.N9N|GSTM2_ENST00000369827.3_Silent_p.N7N|GSTM2_ENST00000464206.1_3'UTR					glutathione S-transferase mu 2 (muscle)											kidney(1)|large_intestine(2)|lung(4)|prostate(2)|upper_aerodigestive_tract(2)	11		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		all cancers(265;0.0122)|Colorectal(144;0.0129)|Epithelial(280;0.0146)|Lung(183;0.0422)|COAD - Colon adenocarcinoma(174;0.047)|LUSC - Lung squamous cell carcinoma(189;0.227)		GGTACTGGAACATCCGCGGGG	0.677													T	110210764	C	T	110210764	2	4	702	1	0	0	0	0	0	0	0	1	6893	477	17	2		2	GSTM2	1	110210764	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	10016605	110210764	139039857	3	54189											
ADCY10	55811	broad.mit.edu	37	chr1	167849749	167849749	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggattttgtggacttgagaGcagaagtcaaatatatccat	13	13	10	5	0	1	2	1	1	0	2	2	5	2	4	1	2	1	1	1	2	4	5			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:167849749G>A	ENST00000367848.1	-	10	1340	c.843C>T	c.(841-843)tgC>tgT	p.C281C	ADCY10_ENST00000367851.4_Silent_p.C373C|ADCY10_ENST00000545172.1_Silent_p.C220C			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	373					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						GGACTTGAGAGCAGAAGTCAA	0.517													A	167849749	G	A	167849749	2	1	702	1	0	0	0	0	0	0	0	1	293	963	34	2		2	ADCY10	1	167849749	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	57638985	167849749	81400872	4	54190											
ASPM	259266	broad.mit.edu	37	chr1	197061121	197061121	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctttgaattctaacagcAttcaggtgataatatgcagc	12	13	8	8	0	3	2	1	2	2	0	3	2	3	2	0	1	4	3	0	1	4	6			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr1:197061121A>T	ENST00000367409.4	-	22	9616	c.9360T>A	c.(9358-9360)aaT>aaA	p.N3120K	ASPM_ENST00000294732.7_Missense_Mutation_p.N1535K|ASPM_ENST00000367408.1_Missense_Mutation_p.N785K	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	3120					mitosis	cytoplasm|nucleus	calmodulin binding			breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTCTAACAGCATTCAGGTGAT	0.363													T	197061121	A	T	197061121	3	4	702	1	0	0	0	0	1	0	0	0	1061	214	8	5	1101	5	ASPM	1	197061121	Missense_Mutation	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08	29211372	197061121	52189500	5	54191											
NLRC4	58484	broad.mit.edu	37	chr2	32475056	32475056	+	Frame_Shift_Del	DEL	T	T	-																															cacctgtgtcttctgcagccTtttcccatgaagccatagct																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:32475056delT	ENST00000404025.2	-	5	2365	c.1877delA	c.(1876-1878)aagfs	p.K626fs	NLRC4_ENST00000360906.5_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000402280.1_Frame_Shift_Del_p.K626fs|NLRC4_ENST00000342905.6_Intron			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	626					activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					TTCTGCAGCCTTTTCCCATGA	0.458													-	32475056	T	-	32475056	7	5	702	1	0	1	0	1	0	0	0	0	10545	1609	56	0	1221	0	NLRC4	2	32475056	Frame_Shift_Del	DEL	T	TCGA-S9-A6U5-01A-12D-A33T-08		32475056	210724317	6	54192											
ITGB6	3694	broad.mit.edu	37	chr2	160980358	160980358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acttgtccacacattcttctCgggcttggccagctgctgac	6	12	9	14	1	2	1	0	1	2	0	4	1	3	1	2	2	2	3	2	2	0	4			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:160980358C>T	ENST00000283249.2	-	12	2162	c.1925G>A	c.(1924-1926)cGa>cAa	p.R642Q	ITGB6_ENST00000428609.2_Missense_Mutation_p.R600Q|ITGB6_ENST00000409967.2_Intron|ITGB6_ENST00000409872.1_Missense_Mutation_p.R642Q	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	642					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						ACATTCTTCTCGGGCTTGGCC	0.453													T	160980358	C	T	160980358	3	4	702	1	0	0	0	0	1	0	0	0	7957	884	31	1	457	1	ITGB6	2	160980358	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	128505302	160980358	82219015	7	54193											
PLCL1	5334	broad.mit.edu	37	chr2	198950470	198950470	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagggagcttgtgccaaaggGgatgtcatagatccctatgt	11	10	13	7	0	1	1	1	0	0	1	2	3	2	3	2	3	2	1	2	3	4	3	rs142477843		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr2:198950470G>A	ENST00000428675.1	+	2	2627	c.2229G>A	c.(2227-2229)ggG>ggA	p.G743G	PLCL1_ENST00000437704.2_Silent_p.G645G	NM_006226.3	NP_006217.3	Q15111	PLCL1_HUMAN	phospholipase C-like 1	743	C2.				intracellular signal transduction|lipid metabolic process	cytoplasm	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(14)|lung(44)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	80					Quinacrine(DB01103)	GTGCCAAAGGGGATGTCATAG	0.433													A	198950470	G	A	198950470	2	1	702	1	0	0	0	0	0	0	0	1	12116	1219	43	2		2	PLCL1	2	198950470	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	37970112	198950470	44248903	8	54194											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	702	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	10162642	209113112	34086261	9	54195											
AMT	275	broad.mit.edu	37	chr3	49459637	49459637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcactggcagactccaacccGcaaacgccaccattttcccg	10	6	7	18	3	0	1	0	0	0	1	2	1	2	1	5	1	2	3	5	1	2	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:49459637G>A	ENST00000273588.3	-	2	460	c.158C>T	c.(157-159)gCg>gTg	p.A53V	AMT_ENST00000395338.2_Missense_Mutation_p.A53V|AMT_ENST00000546031.1_Intron|AMT_ENST00000538581.1_Intron|AMT_ENST00000458307.2_Missense_Mutation_p.A53V|AMT_ENST00000476226.1_5'UTR	NM_000481.3	NP_000472.2	P48728	GCST_HUMAN	aminomethyltransferase	53					glycine catabolic process	mitochondrion	aminomethyltransferase activity|transaminase activity			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)	NADH(DB00157)|Tetrahydrofolic acid(DB00116)	ACTCCAACCCGCAAACGCCAC	0.627													A	49459637	G	A	49459637	3	1	702	1	0	0	0	0	1	0	0	0	589	1087	38	1	1113	1	AMT	3	49459637	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		49459637	148562793	10	54196											
MUC4	4585	broad.mit.edu	37	chr3	195512148	195512148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggatactgaggaagcGtcggtgacaagaagagaggt	12	7	16	6	2	0	4	0	2	0	2	1	7	0	6	1	4	2	0	1	4	4	1			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr3:195512148G>C	ENST00000463781.3	-	2	6762	c.6303C>G	c.(6301-6303)gaC>gaG	p.D2101E	MUC4_ENST00000475231.1_Missense_Mutation_p.D2101E|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	874	EGF-like 2.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CTGAGGAAGCGTCGGTGACAA	0.567													C	195512148	G	C	195512148	3	2	702	1	0	0	0	0	1	0	0	0	10054	1136	40	4		4	MUC4	3	195512148	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	146052511	195512148	2510282	11	54197											
PHOX2B	8929	broad.mit.edu	37	chr4	41750611	41750611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagaggaattgaggtaagaaTattccattttatacattgaa	16	13	8	4	0	0	4	0	2	0	2	1	5	1	5	1	2	1	1	1	2	7	8			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:41750611T>C	ENST00000226382.2	-	1	376	c.17A>G	c.(16-18)tAt>tGt	p.Y6C	RP11-227F19.1_ENST00000508038.1_RNA	NM_003924.3	NP_003915.2	Q99453	PHX2B_HUMAN	paired-like homeobox 2b	6					positive regulation of transcription from RNA polymerase II promoter	nuclear chromatin	RNA polymerase II regulatory region sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity			autonomic_ganglia(7)|central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|skin(1)|urinary_tract(1)	30						GAGGTAAGAATATTCCATTTT	0.483			"Mis, F"		neuroblastoma	neuroblastoma	congenital central hypoventilation syndrome		Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome				C	41750611	T	C	41750611	3	2	702	1	0	0	0	0	1	0	0	0	11936	1406	49	3	939	3	PHOX2B	4	41750611	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		41750611	149403665	12	54198											
SPP1	6696	broad.mit.edu	37	chr4	88898248	88898248	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagttctgaggaaaagcAggtaagcatcttttatgttt	12	14	11	4	0	2	1	0	1	2	0	2	3	2	3	0	3	2	5	0	3	5	5			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:88898248A>T	ENST00000237623.7	+	3	240	c.92A>T	c.(91-93)cAg>cTg	p.Q31L	SPP1_ENST00000360804.4_Splice_Site_p.Q31L|SPP1_ENST00000509659.1_3'UTR|SPP1_ENST00000395080.3_Splice_Site_p.Q31L	NM_000582.2	NP_000573.1	P10451	OSTP_HUMAN	secreted phosphoprotein 1	31					biomineral tissue development|cell adhesion|decidualization|embryo implantation|ossification|response to vitamin D	extracellular space	cytokine activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(1)	13		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-05)		GAGGAAAAGCAGGTAAGCATC	0.358													T	88898248	A	T	88898248	5	4	702	1	0	0	0	0	0	0	1	0	15182	202	7	5	98	5	SPP1	4	88898248	Splice_Site	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08	47147637	88898248	102256028	13	54199											
PDGFC	56034	broad.mit.edu	37	chr4	157771503	157771503	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggataagtatgaggaaaccTtgggctgtgaatacttccat	12	12	11	6	0	0	2	0	2	0	0	1	4	1	4	2	3	2	2	2	3	5	5			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:157771503T>C	ENST00000502773.1	-	2	674	c.184A>G	c.(184-186)Agg>Ggg	p.R62G	PDGFC_ENST00000422544.2_Missense_Mutation_p.R62G|PDGFC_ENST00000541126.1_Intron	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	62	CUB.				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		TGAGGAAACCTTGGGCTGTGA	0.358													C	157771503	T	C	157771503	3	2	702	1	0	0	0	0	1	0	0	0	11735	1608	56	3	873	3	PDGFC	4	157771503	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08	68873255	157771503	33382773	14	54200											
MFAP3L	9848	broad.mit.edu	37	chr4	170926744	170926746	+	In_Frame_Del	DEL	CTT	CTT	-																															agcctacctcctcctctctcCttctcatcctcttcttcttt																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr4:170926744_170926746delCTT	ENST00000361618.3	-	2	590_592	c.283_285delAAG	c.(283-285)aagdel	p.K95del	MFAP3L_ENST00000506110.1_In_Frame_Del_p.K95del|MFAP3L_ENST00000393702.3_In_Frame_Del_p.K95del	NM_021647.6	NP_067679.6	O75121	MFA3L_HUMAN	microfibrillar-associated protein 3-like	95	Ig-like C2-type.					integral to membrane|plasma membrane				cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22		Prostate(90;0.00601)|Renal(120;0.0183)|all_neural(102;0.122)|Melanoma(52;0.17)		GBM - Glioblastoma multiforme(119;0.0201)|LUSC - Lung squamous cell carcinoma(193;0.116)		CTCCTCTCTCCTTCTCATCCTCT	0.424													-	170926746	CTT	-	170926744	7	5	702	1	0	1	0	1	0	0	0	0	9591	680	24	0	952	0	MFAP3L	4	170926744	In_Frame_Del	DEL	CTT	TCGA-S9-A6U5-01A-12D-A33T-08	13155241	170926744	20227532	15	54201											
BDP1	55814	broad.mit.edu	37	chr5	70819927	70819927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgtggatcaaaacgagttcGgggtaagacctctaagaagg	13	8	13	7	3	2	2	1	0	1	2	4	4	2	3	1	4	1	2	1	4	5	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr5:70819927G>A	ENST00000358731.4	+	25	5812	c.5549G>A	c.(5548-5550)cGg>cAg	p.R1850Q	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1850					regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		AAACGAGTTCGGGGTAAGACC	0.453													A	70819927	G	A	70819927	3	1	702	1	0	0	0	0	1	0	0	0	1400	1116	39	1	5647	1	BDP1	5	70819927	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		70819927	110095333	16	54202											
CHMP7	91782	broad.mit.edu	37	chr8	23117744	23117744	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatctgcctgacaacccccGcaataggcattttaccaaca	12	8	7	14	1	1	1	0	1	1	0	1	2	1	2	4	2	4	2	4	2	5	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:23117744G>A	ENST00000397677.1	+	10	1856	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CHMP7_ENST00000520102.1_3'UTR|CHMP7_ENST00000313219.7_Missense_Mutation_p.R403H	NM_152272.3	NP_689485.1	Q8WUX9	CHMP7_HUMAN	charged multivesicular body protein 7	403					cellular membrane organization|late endosome to vacuole transport	cytosol|ESCRT III complex	protein transporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|urinary_tract(1)	11		Prostate(55;0.0513)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		GACAACCCCCGCAATAGGCAT	0.463													A	23117744	G	A	23117744	3	1	702	1	0	0	0	0	1	0	0	0	3391	1087	38	1	1242	1	CHMP7	8	23117744	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		23117744	123246278	17	54203											
SCRT1	83482	broad.mit.edu	37	chr8	145556985	145556985	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgcagcgcttgcactggaaGtgcttgaaggccgaatgcgt	8	10	14	9	3	0	1	0	1	0	0	0	3	0	2	1	2	5	4	1	2	3	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr8:145556985G>A	ENST00000332135.4	-	2	1020	c.909C>T	c.(907-909)caC>caT	p.H303H		NM_031309.4	NP_112599.2	Q9BWW7	SCRT1_HUMAN	scratch family zinc finger 1	303						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(2)|upper_aerodigestive_tract(1)	3	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.94e-40)|Epithelial(56;1.35e-39)|all cancers(56;1.37e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0441)|Colorectal(110;0.055)			TGCACTGGAAGTGCTTGAAGG	0.652													A	145556985	G	A	145556985	2	1	702	1	0	0	0	0	0	0	0	1	14034	1020	36	2		2	SCRT1	8	145556985	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	122439241	145556985	807037	18	54204											
NOTCH1	4851	broad.mit.edu	37	chr9	139413070	139413072	+	In_Frame_Del	DEL	AGA	AGA	-																															gccatggggacactcgcagtAgaaggaggccacacggtcat																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr9:139413070_139413072delAGA	ENST00000277541.6	-	6	1145_1147	c.1070_1072delTCT	c.(1069-1074)ttctac>tac	p.F357del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	357	EGF-like 9; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.F357delF(4)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CACTCGCAGTAGAAGGAGGCCAC	0.655			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139413072	AGA	-	139413070	7	5	702	1	0	1	0	1	0	0	0	0	10623	420	15	0	6711	0	NOTCH1	9	139413070	In_Frame_Del	DEL	AGA	TCGA-S9-A6U5-01A-12D-A33T-08		139413070	1800361	19	54205											
USP54	159195	broad.mit.edu	37	chr10	75331188	75331188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacttaccttgagagcGcaaaagatgcaggaatctcc	14	8	10	9	1	1	2	0	1	1	2	2	5	1	3	2	1	4	3	2	1	6	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433													A	75331188	G	A	75331188	2	1	702	1	0	0	0	0	0	0	0	1	17187	1079	38	1		1	USP54	10	75331188	Silent	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		75331188	60203559	20	54206											
KCNIP2	30819	broad.mit.edu	37	chr10	103589642	103589642	+	Frame_Shift_Del	DEL	G	G	-																															tgtgggggcggagggaggctGgggcggctaatgctgaaggg																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:103589642delG	ENST00000356640.2	-	3	457	c.182delC	c.(181-183)ccafs	p.P61fs	KCNIP2_ENST00000353068.3_Intron|KCNIP2_ENST00000355657.2_5'UTR|KCNIP2_ENST00000358038.3_Intron|KCNIP2_ENST00000343195.4_Intron|KCNIP2_ENST00000370046.1_Intron|KCNIP2_ENST00000461105.1_Frame_Shift_Del_p.P76fs|KCNIP2_ENST00000348850.5_Intron	NM_014591.4|NM_173191.2	NP_055406.2|NP_775283.1	Q9NS61	KCIP2_HUMAN	Kv channel interacting protein 2	61					clustering of voltage-gated potassium channels|detection of calcium ion|muscle contraction|regulation of heart contraction|signal transduction|synaptic transmission	cytoplasm|voltage-gated potassium channel complex	A-type (transient outward) potassium channel activity|calcium ion binding|ER retention sequence binding|identical protein binding|protein N-terminus binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	11		Colorectal(252;0.122)		Epithelial(162;4.93e-09)|all cancers(201;2.63e-07)		GAGGGAGGCTGGGGCGGCTAA	0.667													-	103589642	G	-	103589642	7	5	702	1	0	1	0	1	0	0	0	0	8098	1348	47	0	730	0	KCNIP2	10	103589642	Frame_Shift_Del	DEL	G	TCGA-S9-A6U5-01A-12D-A33T-08	28258454	103589642	31945105	21	54207											
NHLRC2	374354	broad.mit.edu	37	chr10	115664616	115664616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgctgtggtagatggccCgttcctagtagaaaaacaga	14	9	11	7	1	0	3	0	0	0	3	1	3	1	3	2	2	2	4	2	2	6	4			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr10:115664616C>T	ENST00000369301.3	+	10	1957	c.1745C>T	c.(1744-1746)cCg>cTg	p.P582L		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	582					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		GTAGATGGCCCGTTCCTAGTA	0.408													T	115664616	C	T	115664616	3	4	702	1	0	0	0	0	1	0	0	0	10482	652	23	1	1783	1	NHLRC2	10	115664616	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	12074974	115664616	19870131	22	54208											
OPCML	4978	broad.mit.edu	37	chr11	132527130	132527130	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatgatcacacgagggtcTatggaccacttgtcattccc	10	10	10	11	1	3	1	2	1	1	0	4	4	4	3	2	3	0	0	2	3	1	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr11:132527130T>C	ENST00000331898.7	-	2	830	c.252A>G	c.(250-252)atA>atG	p.I84M	OPCML_ENST00000541867.1_Missense_Mutation_p.I84M|OPCML_ENST00000524381.1_Missense_Mutation_p.I77M|OPCML_ENST00000529038.1_5'UTR|OPCML_ENST00000374778.4_Missense_Mutation_p.I43M	NM_002545.3	NP_002536.1	Q14982	OPCM_HUMAN	opioid binding protein/cell adhesion molecule-like	84	Ig-like C2-type 1.				cell adhesion|neuron recognition	anchored to membrane|integral to plasma membrane	opioid receptor activity			endometrium(5)|kidney(1)|large_intestine(12)|lung(17)|ovary(2)|skin(2)|urinary_tract(8)	47	all_hematologic(175;0.019)	all_cancers(12;5.86e-24)|all_epithelial(12;2.65e-17)|all_lung(97;2.89e-05)|Lung NSC(97;6.16e-05)|Breast(109;0.000126)|Medulloblastoma(222;0.0269)|all_neural(223;0.0326)|Esophageal squamous(93;0.129)		all cancers(11;4.61e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.012)		CACGAGGGTCTATGGACCACT	0.542													C	132527130	T	C	132527130	3	2	702	1	0	0	0	0	1	0	0	0	10950	1512	53	3	809	3	OPCML	11	132527130	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		132527130	2479386	23	54209											
GNB3	2784	broad.mit.edu	37	chr12	6950780	6950780	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aagcctgtgctgacgttactCtggcagaggtaagaccccct	9	9	11	12	1	1	3	0	1	1	2	1	3	1	3	3	2	3	4	3	2	3	2			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr12:6950780C>G	ENST00000229264.3	+	4	493	c.88C>G	c.(88-90)Ctg>Gtg	p.L30V	GNB3_ENST00000435982.2_Missense_Mutation_p.L30V	NM_002075.2	NP_002066.1	P16520	GBB3_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 3	30					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|regulation of blood pressure|synaptic transmission	plasma membrane	GTPase activity|GTPase binding|signal transducer activity			cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|prostate(1)|stomach(1)	20						TGACGTTACTCTGGCAGAGGT	0.642													G	6950780	C	G	6950780	3	3	702	1	0	0	0	0	1	0	0	0	6575	912	32	4	94	4	GNB3	12	6950780	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		6950780	126901115	24	54210											
COL4A1	1282	broad.mit.edu	37	chr13	110895028	110895028	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcggcaactcaccttttgTcccttcactccatggcagtc	6	14	6	15	1	2	0	2	0	0	0	6	0	4	0	3	2	1	2	3	2	1	4			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr13:110895028T>C	ENST00000375820.4	-	2	259	c.138A>G	c.(136-138)ggA>ggG	p.G46G	COL4A1_ENST00000543140.1_Silent_p.G46G	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	46					angiogenesis|axon guidance		extracellular matrix structural constituent|platelet-derived growth factor binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			TCACCTTTTGTCCCTTCACTC	0.403													C	110895028	T	C	110895028	2	2	702	1	0	0	0	0	0	0	0	1	3720	1654	58	3		3	COL4A1	13	110895028	Silent	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		110895028	4274850	25	54211											
SLC7A7	9056	broad.mit.edu	37	chr14	23242852	23242856	+	Frame_Shift_Del	DEL	CTCTC	CTCTC	-																															ggatcccgttgcttgggcatCtctcctccatcttccaaatc																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr14:23242852_23242856delCTCTC	ENST00000397532.3	-	10	2024_2028	c.1499_1503delGAGAG	c.(1498-1503)ggagagfs	p.GE500fs	SLC7A7_ENST00000554517.1_Frame_Shift_Del_p.GE234fs|SLC7A7_ENST00000555702.1_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000397528.4_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000285850.7_Frame_Shift_Del_p.GE500fs|SLC7A7_ENST00000554061.1_5'UTR|SLC7A7_ENST00000397529.2_Frame_Shift_Del_p.GE500fs			Q9UM01	YLAT1_HUMAN	solute carrier family 7 (amino acid transporter light chain, y+L system), member 7	500					blood coagulation|cellular amino acid metabolic process|ion transport|leukocyte migration|protein complex assembly	basolateral plasma membrane|integral to plasma membrane	amino acid transmembrane transporter activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(2)	20	all_cancers(95;8.44e-05)			GBM - Glioblastoma multiforme(265;0.00741)		GCTTGGGCATCTCTCCTCCATCTTC	0.473													-	23242856	CTCTC	-	23242852	7	5	702	1	0	1	0	1	0	0	0	0	14797	912	32	0	36	0	SLC7A7	14	23242852	Frame_Shift_Del	DEL	CTCTC	TCGA-S9-A6U5-01A-12D-A33T-08		23242852	84106688	26	54212											
TMEM62	80021	broad.mit.edu	37	chr15	43473409	43473409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttggtgaaatcattgatgGcaaatttggttgctgctttt	8	19	10	4	0	1	2	1	2	0	0	1	2	1	2	0	3	2	4	0	3	2	7			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr15:43473409G>A	ENST00000260403.2	+	13	1796	c.1517G>A	c.(1516-1518)gGc>gAc	p.G506D	EPB42_ENST00000563128.1_Intron|TMEM62_ENST00000569369.1_3'UTR	NM_024956.3	NP_079232.3	Q0P6H9	TMM62_HUMAN	transmembrane protein 62	506						integral to membrane				breast(1)|cervix(1)|endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18		all_cancers(109;1.16e-10)|all_epithelial(112;2.01e-09)|Lung NSC(122;8.91e-07)|all_lung(180;8.8e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;4.23e-07)		ATCATTGATGGCAAATTTGGT	0.338													A	43473409	G	A	43473409	3	1	702	1	0	0	0	0	1	0	0	0	16289	1203	42	2	1567	2	TMEM62	15	43473409	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		43473409	59057983	27	54213											
BCAR1	9564	broad.mit.edu	37	chr16	75276756	75276756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggctgaggctgggccGgggtggcgggagggccgggg	3	3	26	9	3	0	1	0	1	0	0	0	2	0	2	3	11	0	2	3	11	0	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr16:75276756G>A	ENST00000546196.1	-	2	1810	c.158C>T	c.(157-159)cCg>cTg	p.P53L	BCAR1_ENST00000162330.5_Missense_Mutation_p.P82L|BCAR1_ENST00000535626.2_Intron|BCAR1_ENST00000538440.2_Missense_Mutation_p.P82L|BCAR1_ENST00000418647.3_Missense_Mutation_p.P128L|BCAR1_ENST00000420641.3_Missense_Mutation_p.P100L|BCAR1_ENST00000542031.2_Missense_Mutation_p.P80L|BCAR1_ENST00000393422.2_Missense_Mutation_p.P100L|BCAR1_ENST00000393420.6_Missense_Mutation_p.P82L			P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	82	SH3.				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		AGGCTGGGCCGGGGTGGCGGG	0.687													A	75276756	G	A	75276756	3	1	702	1	0	0	0	0	1	0	0	0	1353	1116	39	1	2452	1	BCAR1	16	75276756	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08		75276756	15077997	28	54214											
MYO1C	4641	broad.mit.edu	37	chr17	1375272	1375272	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgcgcaggttttccaacagCcccaggtacttcacctggtg	8	9	10	14	2	1	0	1	0	0	0	2	0	2	0	4	3	3	3	4	3	2	4			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:1375272C>T	ENST00000359786.5	-	19	2274	c.1950G>A	c.(1948-1950)ggG>ggA	p.G650G	MYO1C_ENST00000361007.2_Silent_p.G615G|MYO1C_ENST00000575158.1_Silent_p.G615G|MYO1C_ENST00000545534.2_Silent_p.G626G|MYO1C_ENST00000438665.2_Silent_p.G631G	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	650	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TTTCCAACAGCCCCAGGTACT	0.657													T	1375272	C	T	1375272	2	4	702	1	0	0	0	0	0	0	0	1	10146	726	26	2		2	MYO1C	17	1375272	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		1375272	79819938	29	54215											
TBX4	9496	broad.mit.edu	37	chr17	59560289	59560289	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccacctggacttaccttgCaagcgatcctatctggaagc	9	9	9	14	2	1	0	0	0	1	0	2	3	2	2	4	2	4	1	4	2	4	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr17:59560289C>T	ENST00000393853.4	+	9	1216	c.1053C>T	c.(1051-1053)tgC>tgT	p.C351C	TBX4_ENST00000589449.1_3'UTR|TBX4_ENST00000240335.1_Silent_p.C350C			P57082	TBX4_HUMAN	T-box 4	350					leg morphogenesis|skeletal system morphogenesis	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(15)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ACTTACCTTGCAAGCGATCCT	0.567													T	59560289	C	T	59560289	2	4	702	1	0	0	0	0	0	0	0	1	15760	718	25	2		2	TBX4	17	59560289	Silent	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	58185017	59560289	21634921	30	54216											
SLC14A1	6563	broad.mit.edu	37	chr18	43316423	43316423	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctgttctttttttagccCaattttctcaagtgcattga	7	19	6	9	0	3	1	1	1	3	0	4	1	3	1	1	0	2	3	1	0	3	8			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr18:43316423C>A	ENST00000321925.4	+	6	705	c.473C>A	c.(472-474)cCa>cAa	p.P158Q	RP11-116O18.3_ENST00000586213.1_RNA|SLC14A1_ENST00000535474.1_Missense_Mutation_p.P26Q|SLC14A1_ENST00000586142.1_Missense_Mutation_p.P158Q|RP11-116O18.3_ENST00000589510.1_RNA|SLC14A1_ENST00000415427.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000591943.1_Intron|SLC14A1_ENST00000436407.3_Missense_Mutation_p.P214Q|SLC14A1_ENST00000502059.2_Missense_Mutation_p.P50Q|SLC14A1_ENST00000589700.1_Missense_Mutation_p.P158Q|SLC14A1_ENST00000402943.2_Missense_Mutation_p.P53Q	NM_001128588.3|NM_001146036.2|NM_015865.6	NP_001122060.3|NP_001139508.2|NP_056949.4	Q13336	UT1_HUMAN	solute carrier family 14 (urea transporter), member 1	158						integral to plasma membrane	urea transmembrane transporter activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(11)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	21						TTTTTTAGCCCAATTTTCTCA	0.473													A	43316423	C	A	43316423	3	1	702	1	0	0	0	0	1	0	0	0	14490	594	21	4	659	4	SLC14A1	18	43316423	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08		43316423	34760825	31	54217											
CIC	23152	broad.mit.edu	37	chr19	42798857	42798858	+	Frame_Shift_Del	DEL	CT	CT	-																															gccgggccctggtcatgcagCtctttcaggaccatggcttc																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr19:42798857_42798858delCT	ENST00000572681.2	+	20	7215_7216	c.7147_7148delCT	c.(7147-7149)ctcfs	p.L2383fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.L1477fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.L1475fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1477					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGTCATGCAGCTCTTTCAGGAC	0.604			"Mis, F, S"		oligodendroglioma								-	42798858	CT	-	42798857	7	5	702	1	0	1	0	1	0	0	0	0	3454	797	28	0	4503	0	CIC	19	42798857	Frame_Shift_Del	DEL	CT	TCGA-S9-A6U5-01A-12D-A33T-08		42798857	16330126	32	54218											
TGM3	7053	broad.mit.edu	37	chr20	2297883	2297883	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggtctttgctgggacccTcaacacaggtaccttgggtg	6	11	13	11	0	2	0	1	0	1	0	2	1	2	1	2	4	3	2	2	4	2	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:2297883T>C	ENST00000381458.5	+	6	902	c.839T>C	c.(838-840)cTc>cCc	p.L280P	TGM3_ENST00000463090.1_3'UTR	NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	280					cell envelope organization|hair follicle morphogenesis|keratinization|peptide cross-linking|protein tetramerization	cytoplasm|extrinsic to internal side of plasma membrane	acyltransferase activity|calcium ion binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding|protein-glutamine gamma-glutamyltransferase activity			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	GCTGGGACCCTCAACACAGGT	0.577													C	2297883	T	C	2297883	3	2	702	1	0	0	0	0	1	0	0	0	15931	1551	54	3	861	3	TGM3	20	2297883	Missense_Mutation	SNP	T	TCGA-S9-A6U5-01A-12D-A33T-08		2297883	60727637	33	54219											
FOXA2	3170	broad.mit.edu	37	chr20	22563390	22563390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtacgagtagggcggctttgCgtgcgtgtagctgcgcctgt	4	11	17	9	5	0	0	0	0	0	0	0	1	0	0	1	2	5	5	1	2	3	4			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:22563390C>T	ENST00000419308.2	-	2	674	c.490G>A	c.(490-492)Gca>Aca	p.A164T	FOXA2_ENST00000377115.4_Missense_Mutation_p.A158T	NM_021784.4	NP_068556.2	Q9Y261	FOXA2_HUMAN	forkhead box A2	164					cell differentiation in hindbrain|central nervous system myelin formation|chromatin modification|dorsal/ventral neural tube patterning|ectoderm formation|endocrine pancreas development|endoderm development|epithelial tube branching involved in lung morphogenesis|in utero embryonic development|lung epithelial cell differentiation|negative regulation of neuron differentiation|neuron fate specification|oligodendrocyte cell fate commitment|positive regulation of embryonic development|positive regulation of gastrulation|positive regulation of neuron differentiation|primitive streak formation|regulation of blood coagulation|regulation of sequence-specific DNA binding transcription factor activity|response to interleukin-6	cytoplasm|transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(1)|lung(3)|ovary(2)|prostate(2)|urinary_tract(1)	22	Lung NSC(19;0.188)					GGCGGCTTTGCGTGCGTGTAG	0.627													T	22563390	C	T	22563390	3	4	702	1	0	0	0	0	1	0	0	0	6039	768	27	1	905	1	FOXA2	20	22563390	Missense_Mutation	SNP	C	TCGA-S9-A6U5-01A-12D-A33T-08	20265507	22563390	40462130	34	54220											
ZNF335	63925	broad.mit.edu	37	chr20	44579160	44579162	+	In_Frame_Del	DEL	CTT	CTT	-																															agcatgtgccgacgcaggtcCttcttgttcttggaggcaaa																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr20:44579160_44579162delCTT	ENST00000322927.2	-	21	3362_3364	c.3262_3264delAAG	c.(3262-3264)aagdel	p.K1088del	ZNF335_ENST00000426788.1_In_Frame_Del_p.K933del	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1088					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GACGCAGGTCCTTCTTGTTCTTG	0.601													-	44579162	CTT	-	44579160	7	5	702	1	0	1	0	1	0	0	0	0	17953	680	24	0	796	0	ZNF335	20	44579160	In_Frame_Del	DEL	CTT	TCGA-S9-A6U5-01A-12D-A33T-08	22015770	44579160	18446360	35	54221											
APP	351	broad.mit.edu	37	chr21	27394182	27394184	+	In_Frame_Del	DEL	GTG	GTG	-																															ccacctcttccacagactctGtggtggtggtggtggtggtg																										TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:27394182_27394184delGTG	ENST00000358918.3	-	6	1036_1038	c.837_839delCAC	c.(835-840)accaca>aca	p.279_280TT>T	APP_ENST00000346798.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000448388.2_In_Frame_Del_p.244_245TT>T|APP_ENST00000354192.3_In_Frame_Del_p.223_224TT>T|APP_ENST00000359726.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000474136.1_5'UTR|APP_ENST00000357903.3_In_Frame_Del_p.279_280TT>T|APP_ENST00000440126.3_In_Frame_Del_p.274_275TT>T|APP_ENST00000439274.2_In_Frame_Del_p.223_224TT>T|APP_ENST00000348990.5_In_Frame_Del_p.279_280TT>T	NM_001204301.1|NM_001204302.1	NP_001191230.1|NP_001191231.1	P05067	A4_HUMAN	amyloid beta (A4) precursor protein	279	Poly-Thr.				adult locomotory behavior|axon cargo transport|axon midline choice point recognition|cell adhesion|cellular copper ion homeostasis|collateral sprouting in absence of injury|dendrite development|endocytosis|extracellular matrix organization|G2 phase of mitotic cell cycle|innate immune response|ionotropic glutamate receptor signaling pathway|mating behavior|mRNA polyadenylation|neuron apoptosis|neuron remodeling|Notch signaling pathway|platelet activation|platelet degranulation|positive regulation of mitotic cell cycle|protein phosphorylation|regulation of epidermal growth factor receptor activity|regulation of multicellular organism growth|regulation of synapse structure and activity|regulation of translation|visual learning	axon|cell surface|coated pit|dendritic shaft|dendritic spine|extracellular region|Golgi apparatus|integral to plasma membrane|platelet alpha granule lumen	acetylcholine receptor binding|DNA binding|heparin binding|identical protein binding|metal ion binding|protein binding|PTB domain binding|serine-type endopeptidase inhibitor activity			endometrium(5)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	22		Breast(209;0.00295)				CACAGACTCTgtggtggtggtgg	0.522													-	27394184	GTG	-	27394182	7	5	702	1	0	1	0	1	0	0	0	0	818	1377	48	0	1525	0	APP	21	27394182	In_Frame_Del	DEL	GTG	TCGA-S9-A6U5-01A-12D-A33T-08		27394182	20735713	36	54222											
PFKL	5211	broad.mit.edu	37	chr21	45726635	45726635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccaaagtcttcctcatctacGaggtaaggccaaggtgggct	10	9	11	11	1	3	0	1	0	2	0	4	1	4	0	3	4	1	2	3	4	4	3			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chr21:45726635G>A	ENST00000403390.1	+	3	298	c.298G>A	c.(298-300)Gag>Aag	p.E100K	PFKL_ENST00000496824.1_3'UTR|PFKL_ENST00000349048.4_Missense_Mutation_p.E53K			P17858	K6PL_HUMAN	phosphofructokinase, liver	53					fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CCTCATCTACGAGGTAAGGCC	0.607													A	45726635	G	A	45726635	3	1	702	1	0	0	0	0	1	0	0	0	11841	1059	37	1	163	1	PFKL	21	45726635	Missense_Mutation	SNP	G	TCGA-S9-A6U5-01A-12D-A33T-08	18332453	45726635	2403260	37	54223											
AR	367	broad.mit.edu	37	chrX	66765616	66765616	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaaggcagcagcagcgggAgagcgagggaggcctcgggg	9	1	21	10	4	0	1	0	0	0	1	1	5	0	2	2	6	4	3	2	6	1	0			TCGA-S9-A6U5-01A-12D-A33T-08	TCGA-S9-A6U5-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6638014a-2392-40ed-b0e1-0d44f1df57ba	85191ce5-9e6c-45f6-82d9-5df7f9a7eeb5	g.chrX:66765616A>G	ENST00000374690.3	+	1	1152	c.628A>G	c.(628-630)Aga>Gga	p.R210G	AR_ENST00000513847.1_3'UTR|AR_ENST00000504326.1_Missense_Mutation_p.R210G|AR_ENST00000396044.3_Missense_Mutation_p.R210G	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	208	Modulating.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CAGCAGCGGGAGAGCGAGGGA	0.577									Androgen Insensitivity Syndrome				G	66765616	A	G	66765616	3	3	702	1	0	0	0	0	1	0	0	0	839	296	11	3	630	3	AR	23	66765616	Missense_Mutation	SNP	A	TCGA-S9-A6U5-01A-12D-A33T-08		66765616	88504944	38	54224											
AADACL3	126767	broad.mit.edu	37	chr1	12779671	12779671	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgtgtactaccacggtggCgggggcgtcatggggagttt	6	10	17	8	4	1	0	1	0	0	0	2	1	1	1	1	6	2	2	1	6	2	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:12779671C>T	ENST00000359318.5	+	2	397	c.192C>T	c.(190-192)ggC>ggT	p.G64G	AADACL3_ENST00000332530.3_Intron	NM_001103170.1	NP_001096640.1	Q5VUY0	ADCL3_HUMAN	arylacetamide deacetylase-like 3	64							hydrolase activity			breast(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)	15	Ovarian(185;0.249)	Lung NSC(185;8.27e-05)|all_lung(284;9.47e-05)|Renal(390;0.000147)|Colorectal(325;0.000583)|Breast(348;0.000596)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.13e-06)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		ACCACGGTGGCGGGGGCGTCA	0.537													T	12779671	C	T	12779671	2	4	703	1	0	0	0	0	0	0	0	1	12	755	27	1		1	AADACL3	1	12779671	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		12779671	236470950	1	54225											
DENND2D	79961	broad.mit.edu	37	chr1	111743020	111743020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cagtccagtcctgacctgctCggagttgaagcagtcggcgt	7	9	13	12	3	0	2	0	2	0	0	4	3	2	3	3	2	2	3	3	2	1	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:111743020C>T	ENST00000357640.4	-	1	291	c.62G>A	c.(61-63)cGa>cAa	p.R21Q	DENND2D_ENST00000473682.1_5'UTR|DENND2D_ENST00000369752.5_Intron	NM_024901.3	NP_079177.2	Q9H6A0	DEN2D_HUMAN	DENN/MADD domain containing 2D	21										breast(1)|endometrium(1)|kidney(7)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	25		all_cancers(81;0.00198)|all_epithelial(167;0.000686)|all_lung(203;0.00318)|Lung NSC(277;0.00499)		Lung(183;0.0162)|Colorectal(144;0.069)|all cancers(265;0.0757)|LUSC - Lung squamous cell carcinoma(189;0.0845)|Epithelial(280;0.114)|COAD - Colon adenocarcinoma(174;0.14)		CTGACCTGCTCGGAGTTGAAG	0.552													T	111743020	C	T	111743020	3	4	703	1	0	0	0	0	1	0	0	0	4470	884	31	1	1401	1	DENND2D	1	111743020	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	98963349	111743020	137507601	2	54226											
MAGI3	260425	broad.mit.edu	37	chr1	114215354	114215354	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atttcagttgtaggcagtcgGcacaatcaggtaaacaaaca	15	9	9	8	1	2	0	2	0	0	0	3	0	2	0	0	3	2	5	0	3	5	4			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:114215354G>A	ENST00000369615.1	+	18	3098	c.3036G>A	c.(3034-3036)cgG>cgA	p.R1012R	MAGI3_ENST00000369611.4_Silent_p.R1012R|MAGI3_ENST00000369617.4_Silent_p.R1037R|MAGI3_ENST00000307546.9_Silent_p.R1012R	NM_152900.2	NP_690864.2	Q5TCQ9	MAGI3_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 3	1037					apoptosis|interspecies interaction between organisms|intracellular signal transduction	nucleus|tight junction	ATP binding|guanylate kinase activity|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)|ovary(3)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	41	Lung SC(450;0.184)	all_cancers(81;2.34e-09)|all_epithelial(167;7.41e-09)|all_lung(203;7.13e-06)|Lung NSC(69;1.2e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TAGGCAGTCGGCACAATCAGG	0.423													A	114215354	G	A	114215354	2	1	703	1	0	0	0	0	0	0	0	1	9267	1190	42	2		2	MAGI3	1	114215354	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	2472334	114215354	135035267	3	54227											
HMCN1	83872	broad.mit.edu	37	chr1	186120454	186120454	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactagaataatacgtgccAaaattaccaatgtacctcgt	16	11	5	9	2	0	1	0	0	0	1	1	1	0	1	3	0	5	1	3	0	10	6			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:186120454A>T	ENST00000271588.4	+	94	14960	c.14731A>T	c.(14731-14733)Aaa>Taa	p.K4911*	HMCN1_ENST00000367492.2_Nonsense_Mutation_p.K4911*	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4911	Nidogen G2 beta-barrel.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						AATACGTGCCAAAATTACCAA	0.313													T	186120454	A	T	186120454	4	4	703	1	0	0	0	0	0	1	0	0	7275	131	5	5	15105	5	HMCN1	1	186120454	Nonsense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	71905100	186120454	63130167	4	54228											
IKBKE	9641	broad.mit.edu	37	chr1	206650062	206650062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcggtgcttcgaaagccccaGcaaaaagcgttcggggtgac	10	6	14	11	4	0	1	0	1	0	0	2	2	0	1	2	3	4	3	2	3	3	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr1:206650062G>A	ENST00000367120.3	+	7	955	c.582G>A	c.(580-582)caG>caA	p.Q194Q	IKBKE_ENST00000537984.1_Silent_p.Q109Q	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	194	Protein kinase.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					GAAAGCCCCAGCAAAAAGCGT	0.612													A	206650062	G	A	206650062	2	1	703	1	0	0	0	0	0	0	0	1	7670	962	34	2		2	IKBKE	1	206650062	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	20529608	206650062	42600559	5	54229											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	22	4	11	4	0	0	2	0	0	0	2	0	6	0	5	1	4	2	0	1	4	9	3	rs111515821		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328													T	97869979	G	T	97869979	3	4	703	1	0	0	0	0	1	0	0	0	665	1174	41	4	3238	4	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		97869979	145329394	6	54230											
TTN	7273	broad.mit.edu	37	chr2	179542881	179542881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgcttccacttttttcGgaacaggtgttggtttcttt	4	19	11	7	1	1	0	0	0	1	0	3	1	2	1	1	4	2	3	1	4	1	7			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:179542881G>A	ENST00000589042.1	-	145	34189	c.33965C>T	c.(33964-33966)cCg>cTg	p.P11322L	TTN_ENST00000342992.6_Missense_Mutation_p.P10078L|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.P11005L|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11005	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.P10078L(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CACTTTTTTCGGAACAGGTGT	0.358													A	179542881	G	A	179542881	3	1	703	1	0	0	0	0	1	0	0	0	16837	1116	39	1	70436	1	TTN	2	179542881	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	81672902	179542881	63656492	7	54231											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	703	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	29570231	209113112	34086261	8	54232											
RNF25	64320	broad.mit.edu	37	chr2	219529149	219529149	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaggcagaggaggtggcAaagtggattggacggctggt	10	6	18	7	1	0	1	0	0	0	1	0	4	0	4	1	8	0	3	1	8	1	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr2:219529149A>C	ENST00000295704.2	-	10	1351	c.911T>G	c.(910-912)tTg>tGg	p.L304W		NM_022453.2	NP_071898.2	Q96BH1	RNF25_HUMAN	ring finger protein 25	304					positive regulation of NF-kappaB transcription factor activity	cytosol|nucleus	NF-kappaB binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	24		Renal(207;0.0474)		Epithelial(149;6.99e-07)|all cancers(144;0.000129)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGAGGTGGCAAAGTGGATTG	0.547													C	219529149	A	C	219529149	3	2	703	1	0	0	0	0	1	0	0	0	13576	131	5	5	472	5	RNF25	2	219529149	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	10416037	219529149	23670224	9	54233											
TSEN2	80746	broad.mit.edu	37	chr3	12544759	12544759	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacagtatttctgtcttgcAggtatcagcatagtgttgag	10	15	10	6	0	3	1	1	1	2	0	3	1	3	1	0	1	3	5	0	1	4	7			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:12544759A>G	ENST00000444864.1	+	5	695		c.e5-1		TSEN2_ENST00000284995.6_Splice_Site|TSEN2_ENST00000454502.2_Splice_Site|TSEN2_ENST00000314571.7_Splice_Site|TSEN2_ENST00000415684.1_Splice_Site|TSEN2_ENST00000383797.5_Splice_Site|TSEN2_ENST00000402228.3_Splice_Site	NM_001145395.1	NP_001138867.1	Q8NCE0	SEN2_HUMAN	TSEN2 tRNA splicing endonuclease subunit						mRNA processing|tRNA splicing, via endonucleolytic cleavage and ligation	cytoplasm|nucleolus|tRNA-intron endonuclease complex	nucleic acid binding|tRNA-intron endonuclease activity			central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)	19						TCTGTCTTGCAGGTATCAGCA	0.433													G	12544759	A	G	12544759	5	3	703	1	0	0	0	0	0	0	1	0	16713	202	7	3	321	3	TSEN2	3	12544759	Splice_Site	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		12544759	185477671	10	54234											
LRRC2	79442	broad.mit.edu	37	chr3	46568977	46568977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccaaatggtccccactgaCgactaacagagtgagcttct	12	8	8	13	1	1	3	0	2	1	1	2	4	2	3	3	1	2	1	3	1	2	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:46568977C>T	ENST00000395905.3	-	7	1260	c.868G>A	c.(868-870)Gtc>Atc	p.V290I	LRRC2_ENST00000296144.3_Missense_Mutation_p.V290I	NM_024512.4	NP_078788.2	Q9BYS8	LRRC2_HUMAN	leucine rich repeat containing 2	290										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)	17		Ovarian(412;0.0563)		OV - Ovarian serous cystadenocarcinoma(275;6.37e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00133)|KIRC - Kidney renal clear cell carcinoma(197;0.0214)|Kidney(197;0.0254)		TCCCCACTGACGACTAACAGA	0.483													T	46568977	C	T	46568977	3	4	703	1	0	0	0	0	1	0	0	0	9046	536	19	1	259	1	LRRC2	3	46568977	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	34024218	46568977	151453453	11	54235											
RPN1	6184	broad.mit.edu	37	chr3	128344776	128344776	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcaacaatcacagggcGgccaaatgtgtccagatagg	13	6	13	9	1	1	1	1	0	0	1	2	1	2	1	2	4	1	2	2	4	5	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:128344776G>A	ENST00000296255.3	-	7	1264	c.1216C>T	c.(1216-1218)Cgc>Tgc	p.R406C	RPN1_ENST00000497289.1_Missense_Mutation_p.R234C	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	406					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to membrane|melanosome|oligosaccharyltransferase complex|rough microsome	dolichyl-diphosphooligosaccharide-protein glycotransferase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		ATCACAGGGCGGCCAAATGTG	0.478			T	EVI1	AML								A	128344776	G	A	128344776	3	1	703	1	0	0	0	0	1	0	0	0	13698	1116	39	1	623	1	RPN1	3	128344776	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	81775799	128344776	69677654	12	54236											
TMCC1	23023	broad.mit.edu	37	chr3	129370592	129370592	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgctgctgctgctgcTgcagctccatcttggagatg	5	11	11	14	0	1	1	0	0	1	1	2	2	2	1	3	1	7	7	3	1	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:129370592T>A	ENST00000393238.3	-	6	2034	c.1694A>T	c.(1693-1695)cAg>cTg	p.Q565L	TMCC1_ENST00000426664.2_Missense_Mutation_p.Q451L|TMCC1_ENST00000329333.5_Missense_Mutation_p.Q386L|TMCC1_ENST00000432054.2_Missense_Mutation_p.Q241L	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	565						integral to membrane			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CTGCTGCTGCTGCAGCTCCAT	0.572													A	129370592	T	A	129370592	3	1	703	1	0	0	0	0	1	0	0	0	16092	1580	55	5	271	5	TMCC1	3	129370592	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	1025816	129370592	68651838	13	54237											
KNG1	3827	broad.mit.edu	37	chr3	186445048	186445048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtggctggattgaactttcGaattacctactcaattgtgc	9	14	10	8	1	1	1	1	1	0	0	2	3	1	2	1	3	4	1	1	3	5	5	rs144123648		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr3:186445048G>A	ENST00000265023.4	+	5	799	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	RP11-573D15.8_ENST00000599314.1_RNA|KNG1_ENST00000447445.1_Intron|KNG1_ENST00000287611.2_Missense_Mutation_p.R196Q	NM_001102416.2	NP_001095886.1	P01042	KNG1_HUMAN	kininogen 1	196	Cystatin 2.				blood coagulation, intrinsic pathway|elevation of cytosolic calcium ion concentration|inflammatory response|negative regulation of blood coagulation|negative regulation of cell adhesion|platelet activation|platelet degranulation|positive regulation of apoptosis|positive regulation of renal sodium excretion|positive regulation of urine volume|smooth muscle contraction|vasodilation	extracellular space|plasma membrane|platelet alpha granule lumen	cysteine-type endopeptidase inhibitor activity|heparin binding|receptor binding|zinc ion binding			endometrium(1)|lung(15)|prostate(1)|skin(2)|stomach(2)	21	all_cancers(143;8.96e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;4.12e-20)	GBM - Glioblastoma multiforme(93;0.0798)	Ouabain(DB01092)	TTGAACTTTCGAATTACCTAC	0.368													A	186445048	G	A	186445048	3	1	703	1	0	0	0	0	1	0	0	0	8485	1058	37	1	605	1	KNG1	3	186445048	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	57074456	186445048	11577382	14	54238											
PCDH7	5099	broad.mit.edu	37	chr4	30725788	30725788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	taaaaatggctatgaagccgGcaaaaaagatcacgaagact	19	6	9	7	2	1	3	1	1	0	2	1	4	1	3	1	2	1	2	1	2	9	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr4:30725788G>A	ENST00000361762.2	+	1	3752	c.2744G>A	c.(2743-2745)gGc>gAc	p.G915D	PCDH7_ENST00000543491.1_Missense_Mutation_p.G915D	NM_002589.2	NP_002580.2	O60245	PCDH7_HUMAN	protocadherin 7	915					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						TATGAAGCCGGCAAAAAAGAT	0.388													A	30725788	G	A	30725788	3	1	703	1	0	0	0	0	1	0	0	0	11592	1203	42	2	2746	2	PCDH7	4	30725788	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		30725788	160428488	15	54239											
SPEF2	79925	broad.mit.edu	37	chr5	35691228	35691228	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctgggccatattcttcacagGctagctgaaaaatctcttcc	10	12	7	12	0	3	1	1	1	2	0	5	1	4	1	2	2	1	2	2	2	4	5			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr5:35691228G>T	ENST00000440995.2	+	11	1614	c.1614G>T	c.(1612-1614)agG>agT	p.R538S	SPEF2_ENST00000356031.3_Missense_Mutation_p.R538S|SPEF2_ENST00000509059.1_Missense_Mutation_p.R538S|CTD-2113L7.1_ENST00000510433.1_RNA			Q9C093	SPEF2_HUMAN	sperm flagellar 2	538					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)			TTCTTCACAGGCTAGCTGAAA	0.413													T	35691228	G	T	35691228	3	4	703	1	0	0	0	0	1	0	0	0	15131	1194	42	4	1677	4	SPEF2	5	35691228	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		35691228	145224032	16	54240											
UBR2	23304	broad.mit.edu	37	chr6	42620362	42620362	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaacataatggatatgcctgGtcagagtccatgctgcaaag	13	9	11	8	0	1	1	1	0	0	1	2	3	2	2	2	2	4	2	2	2	4	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr6:42620362G>A	ENST00000372901.1	+	25	3006	c.2748G>A	c.(2746-2748)tgG>tgA	p.W916*	UBR2_ENST00000372899.1_Nonsense_Mutation_p.W916*|UBR2_ENST00000372883.3_Nonsense_Mutation_p.W420*			Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	916					cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			GATATGCCTGGTCAGAGTCCA	0.368													A	42620362	G	A	42620362	4	1	703	1	0	0	0	0	0	1	0	0	17004	1270	44	2	2992	2	UBR2	6	42620362	Nonsense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		42620362	128494705	17	54241											
AHR	196	broad.mit.edu	37	chr7	17379702	17379702	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaaaaccaaaagcatggAttaaatccacagtcagccat	17	7	6	11	0	1	1	1	1	0	0	2	2	2	2	4	1	3	1	4	1	6	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:17379702A>T	ENST00000242057.4	+	10	2896	c.2253A>T	c.(2251-2253)ggA>ggT	p.G751G		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	751					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					AAAAGCATGGATTAAATCCAC	0.463													T	17379702	A	T	17379702	2	4	703	1	0	0	0	0	0	0	0	1	416	320	12	5		5	AHR	7	17379702	Silent	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		17379702	141758961	18	54242											
NPC1L1	29881	broad.mit.edu	37	chr7	44571716	44571716	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tccagtgcagcaggaaggggGcataagccttttggaagaag	12	7	15	7	0	0	1	0	0	0	1	1	3	1	3	2	4	3	3	2	4	4	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:44571716G>A	ENST00000289547.4	-	9	2565	c.2510C>T	c.(2509-2511)gCc>gTc	p.A837V	NPC1L1_ENST00000381160.3_Missense_Mutation_p.A837V|NPC1L1_ENST00000546276.1_Missense_Mutation_p.A837V	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	837					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	CAGGAAGGGGGCATAAGCCTT	0.647													A	44571716	G	A	44571716	3	1	703	1	0	0	0	0	1	0	0	0	10647	1203	42	2	1617	2	NPC1L1	7	44571716	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	27192014	44571716	114566947	19	54243											
CASP2	835	broad.mit.edu	37	chr7	142989399	142989399	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgtgtcttaggccaaaGtgggcagtttcagccagaat	9	13	11	8	0	3	1	1	0	2	1	3	1	3	1	2	2	1	2	2	2	3	4			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr7:142989399G>T	ENST00000310447.5	+	3	473	c.232G>T	c.(232-234)Gtg>Ttg	p.V78L	CASP2_ENST00000493642.1_3'UTR|CASP2_ENST00000392925.2_Missense_Mutation_p.V78L	NM_032982.3|NM_032983.3	NP_116764.2|NP_116765.2	P42575	CASP2_HUMAN	caspase 2, apoptosis-related cysteine peptidase	78	CARD.				apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|protein maturation by peptide bond cleavage	cytosol	cysteine-type endopeptidase activity|enzyme binding|protein binding|protein domain specific binding			endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)	21	Melanoma(164;0.059)					TTAGGCCAAAGTGGGCAGTTT	0.443													T	142989399	G	T	142989399	3	4	703	1	0	0	0	0	1	0	0	0	2697	1029	36	4	242	4	CASP2	7	142989399	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	98417683	142989399	16149264	20	54244											
XKR6	286046	broad.mit.edu	37	chr8	10756203	10756203	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgatccagaaggccatggcGcaccagtgaaccaccacgaa	14	4	10	13	2	0	3	0	2	0	1	1	4	1	3	5	2	1	1	5	2	3	0	rs150672872		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:10756203G>A	ENST00000416569.2	-	3	1211	c.1185C>T	c.(1183-1185)tgC>tgT	p.C395C	XKR6_ENST00000304437.2_Silent_p.C116C	NM_173683.3	NP_775954.2	Q5GH73	XKR6_HUMAN	XK, Kell blood group complex subunit-related family, member 6	395						integral to membrane				breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(8)|ovary(2)|prostate(1)|skin(3)	31				Lung(29;0.0407)|COAD - Colon adenocarcinoma(149;0.0555)		AGGCCATGGCGCACCAGTGAA	0.512													A	10756203	G	A	10756203	2	1	703	1	0	0	0	0	0	0	0	1	17537	1079	38	1		1	XKR6	8	10756203	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		10756203	135607819	21	54245											
FAM167A	83648	broad.mit.edu	37	chr8	11301717	11301717	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccccctcctccaagctcgcCtgtggctccgcagccggcct	3	8	9	21	3	0	0	0	0	0	0	5	0	4	0	8	2	2	3	8	2	1	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:11301717C>A	ENST00000284486.4	-	2	742	c.204G>T	c.(202-204)caG>caT	p.Q68H	FAM167A_ENST00000534308.1_Missense_Mutation_p.Q68H|FAM167A_ENST00000528897.1_Missense_Mutation_p.Q68H	NM_053279.2	NP_444509.2	Q96KS9	F167A_HUMAN	family with sequence similarity 167, member A	68										breast(1)|endometrium(1)|large_intestine(4)|lung(2)|prostate(1)	9						CCAAGCTCGCCTGTGGCTCCG	0.692													A	11301717	C	A	11301717	3	1	703	1	0	0	0	0	1	0	0	0	5528	680	24	4	448	4	FAM167A	8	11301717	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	545514	11301717	135062305	22	54246											
IDO2	169355	broad.mit.edu	37	chr8	39840263	39840263	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactcagacttggtgctgacGaactggaccaaaaaagatcc	14	7	9	11	1	1	3	1	1	0	2	2	5	2	4	2	2	2	1	2	2	4	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:39840263G>A	ENST00000502986.2	+	5	689	c.447G>A	c.(445-447)acG>acA	p.T149T	IDO2_ENST00000389060.4_Silent_p.T136T|IDO2_ENST00000343295.4_3'UTR|RP11-44K6.3_ENST00000517623.1_RNA	NM_194294.2	NP_919270.2	Q6ZQW0	I23O2_HUMAN	indoleamine 2,3-dioxygenase 2	136					tryptophan catabolic process to kynurenine	cytosol	heme binding|indoleamine 2,3-dioxygenase activity|tryptophan 2,3-dioxygenase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)	18						TGGTGCTGACGAACTGGACCA	0.468													A	39840263	G	A	39840263	2	1	703	1	0	0	0	0	0	0	0	1	7560	1045	37	1		1	IDO2	8	39840263	Silent	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	28538546	39840263	106523759	23	54247											
MTSS1	9788	broad.mit.edu	37	chr8	125603405	125603405	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacctcgaaaactgccTcagcttggcttcaatgcttc	8	12	6	15	1	3	0	3	0	0	0	6	1	4	0	3	1	4	3	3	1	3	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:125603405T>G	ENST00000518547.1	-	4	753	c.280A>C	c.(280-282)Agg>Cgg	p.R94R	MTSS1_ENST00000325064.5_Silent_p.R94R|MTSS1_ENST00000378017.3_Silent_p.R94R|MTSS1_ENST00000354184.4_5'UTR	NM_001282971.1|NM_014751.4	NP_001269900.1|NP_055566.3	O43312	MTSS1_HUMAN	metastasis suppressor 1	94	IMD.				actin cytoskeleton organization|cell adhesion|cellular component movement|filopodium assembly|transmembrane receptor protein tyrosine kinase signaling pathway	actin cytoskeleton|endocytic vesicle|ruffle	actin monomer binding|cytoskeletal adaptor activity|receptor binding|SH3 domain binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	37	Ovarian(258;0.00438)|all_neural(195;0.00459)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.00288)			GAAAACTGCCTCAGCTTGGCT	0.512													G	125603405	T	G	125603405	2	3	703	1	0	0	0	0	0	0	0	1	10038	1550	54	5		5	MTSS1	8	125603405	Silent	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	85763142	125603405	20760617	24	54248											
TOP1MT	116447	broad.mit.edu	37	chr8	144406702	144406702	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgtacttgatggagttctGaacgctctcggtccaagctg	8	12	12	9	2	2	2	0	2	2	0	4	4	3	3	1	2	3	4	1	2	3	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144406702G>C	ENST00000523676.1	-	7	880	c.475C>G	c.(475-477)Cag>Gag	p.Q159E	TOP1MT_ENST00000521193.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000519148.1_Missense_Mutation_p.Q159E|TOP1MT_ENST00000329245.4_Missense_Mutation_p.Q257E			Q969P6	TOP1M_HUMAN	topoisomerase (DNA) I, mitochondrial	257					DNA topological change	chromosome|mitochondrial nucleoid	ATP binding|chromatin DNA binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA topoisomerase type I activity			endometrium(5)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|upper_aerodigestive_tract(2)	23	all_cancers(97;1.01e-10)|all_epithelial(106;4.86e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.156)|Colorectal(110;0.173)		Irinotecan(DB00762)|Topotecan(DB01030)	ATGGAGTTCTGAACGCTCTCG	0.627													C	144406702	G	C	144406702	3	2	703	1	0	0	0	0	1	0	0	0	16465	1299	45	4	1072	4	TOP1MT	8	144406702	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	18803297	144406702	1957320	25	54249											
ZC3H3	23144	broad.mit.edu	37	chr8	144522390	144522390	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggaagcgggaggggatgagGaggaggaggaggaggaggaa	14	1	25	1	1	0	1	0	1	0	0	0	11	0	11	0	11	1	0	0	11	2	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr8:144522390G>T	ENST00000262577.5	-	11	2667	c.2636C>A	c.(2635-2637)tCc>tAc	p.S879Y		NM_015117.2	NP_055932.2	Q8IXZ2	ZC3H3_HUMAN	zinc finger CCCH-type containing 3	879	Poly-Ser.				mRNA polyadenylation|poly(A)+ mRNA export from nucleus|regulation of mRNA export from nucleus	nucleus	nucleic acid binding|zinc ion binding	p.S879F(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	23	all_cancers(97;8.64e-11)|all_epithelial(106;6.43e-09)|Lung NSC(106;0.000202)|all_lung(105;0.000548)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.107)			aggggatgaggaggaggagga	0.657													T	144522390	G	T	144522390	3	4	703	1	0	0	0	0	1	0	0	0	17670	1174	41	4	218	4	ZC3H3	8	144522390	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	115688	144522390	1841632	26	54250											
RUSC2	9853	broad.mit.edu	37	chr9	35555653	35555653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcagccgagcagagagcctgGcccggggaggtggtgagggc	7	4	20	10	2	1	2	1	1	0	1	1	5	1	3	3	6	3	1	3	6	0	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:35555653G>A	ENST00000455600.1	+	3	3180	c.2611G>A	c.(2611-2613)Gcc>Acc	p.A871T		NM_001135999.1	NP_001129471	Q8N2Y8	RUSC2_HUMAN	RUN and SH3 domain containing 2	871						cytosol				NS(1)|breast(3)|endometrium(4)|kidney(1)|large_intestine(9)|lung(4)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32			Lung(28;0.000837)|LUSC - Lung squamous cell carcinoma(32;0.00109)|STAD - Stomach adenocarcinoma(86;0.194)			AGAGAGCCTGGCCCGGGGAGG	0.627													A	35555653	G	A	35555653	3	1	703	1	0	0	0	0	1	0	0	0	13842	1203	42	2	2617	2	RUSC2	9	35555653	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		35555653	105657778	27	54251											
DFNB31	25861	broad.mit.edu	37	chr9	117240942	117240942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcccgagggtggggagatgCtgcggccctgcgggtccacc	4	5	19	13	3	0	1	0	0	0	1	1	3	1	1	4	6	3	1	4	6	0	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr9:117240942C>T	ENST00000362057.3	-	2	896	c.728G>A	c.(727-729)aGc>aAc	p.S243N	DFNB31_ENST00000265134.6_5'UTR|DFNB31_ENST00000374057.3_Missense_Mutation_p.S243N	NM_001173425.1|NM_015404.3	NP_001166896.1|NP_056219	Q9P202	WHRN_HUMAN	deafness, autosomal recessive 31	243					inner ear receptor stereocilium organization|retina homeostasis|sensory perception of light stimulus|sensory perception of sound	cytoplasm|growth cone|stereocilium				central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(14)|ovary(5)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						TGGGGAGATGCTGCGGCCCTG	0.677													T	117240942	C	T	117240942	3	4	703	1	0	0	0	0	1	0	0	0	4494	797	28	2	2039	2	DFNB31	9	117240942	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	81685289	117240942	23972489	28	54252											
KLF6	1316	broad.mit.edu	37	chr10	3824266	3824266	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcctctggaggactggaagaTatcttcagttcggattcctc	8	13	10	10	1	3	1	1	0	2	1	7	5	5	5	2	4	0	1	2	4	2	4			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:3824266T>C	ENST00000497571.1	-	2	503	c.243A>G	c.(241-243)atA>atG	p.I81M	KLF6_ENST00000469435.1_Missense_Mutation_p.I81M|KLF6_ENST00000542957.1_Missense_Mutation_p.I81M	NM_001160124.1|NM_001300.5	NP_001153596.1|NP_001291.3	Q99612	KLF6_HUMAN	Kruppel-like factor 6	81					B cell differentiation	nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(1)|large_intestine(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				Colorectal(1;0.238)		GACTGGAAGATATCTTCAGTT	0.468											OREG0019980	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	3824266	T	C	3824266	3	2	703	1	0	0	0	0	1	0	0	0	8408	1396	49	3	620	3	KLF6	10	3824266	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08		3824266	131710481	29	54253											
ITIH5	80760	broad.mit.edu	37	chr10	7618752	7618752	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttccctgccttctgaggccGcacaggcacatctgtcttca	6	12	8	15	1	4	1	1	1	3	0	5	1	5	1	3	2	1	2	3	2	0	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:7618752G>A	ENST00000256861.6	-	10	1720	c.1642C>T	c.(1642-1644)Cgg>Tgg	p.R548W	ITIH5_ENST00000397145.2_Missense_Mutation_p.R548W|ITIH5_ENST00000397146.2_Missense_Mutation_p.R548W|ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000446830.2_Missense_Mutation_p.R330W|ITIH5_ENST00000298441.6_Missense_Mutation_p.R334W	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	548					hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						TTCTGAGGCCGCACAGGCACA	0.587													A	7618752	G	A	7618752	3	1	703	1	0	0	0	0	1	0	0	0	7965	1086	38	1	1329	1	ITIH5	10	7618752	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	3794486	7618752	127915995	30	54254											
ANK3	288	broad.mit.edu	37	chr10	61830854	61830854	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatctgactcaatctggtccGcatccagtggtggaggaggg	8	10	14	9	1	3	1	1	1	2	0	5	3	5	3	2	5	0	1	2	5	2	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr10:61830854G>A	ENST00000280772.2	-	37	9976	c.9785C>T	c.(9784-9786)gCg>gTg	p.A3262V	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)						establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						AATCTGGTCCGCATCCAGTGG	0.438													A	61830854	G	A	61830854	3	1	703	1	0	0	0	0	1	0	0	0	622	1087	38	1	3689	1	ANK3	10	61830854	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	54212102	61830854	73703893	31	54255											
USH1C	10083	broad.mit.edu	37	chr11	17522639	17522639	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcatacacagcagaaacgAccaccttcccaatgggggag	13	5	10	13	1	1	1	1	0	0	1	2	3	2	2	3	2	3	2	3	2	3	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:17522639A>C	ENST00000005226.7	-	23	2338	c.2339T>G	c.(2338-2340)gTc>gGc	p.V780G	USH1C_ENST00000529563.1_5'UTR|USH1C_ENST00000527720.1_Missense_Mutation_p.V449G|USH1C_ENST00000527020.1_Missense_Mutation_p.V461G|USH1C_ENST00000318024.4_Missense_Mutation_p.V480G	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	480					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						AGCAGAAACGACCACCTTCCC	0.592													C	17522639	A	C	17522639	3	2	703	1	0	0	0	0	1	0	0	0	17136	275	10	5	380	5	USH1C	11	17522639	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		17522639	117483877	32	54256											
FOLH1	2346	broad.mit.edu	37	chr11	49179537	49179537	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaactctggggaaggacttTttttagtccaactttcataa	11	15	8	7	0	2	1	1	1	1	0	3	3	3	3	1	3	2	0	1	3	5	6			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:49179537T>C	ENST00000340334.7	-	15	1822	c.1454A>G	c.(1453-1455)aAa>aGa	p.K485R	FOLH1_ENST00000533034.1_Missense_Mutation_p.K485R|FOLH1_ENST00000343844.4_Missense_Mutation_p.K192R|FOLH1_ENST00000256999.2_Missense_Mutation_p.K500R|FOLH1_ENST00000356696.3_Missense_Mutation_p.K500R	NM_001193471.1|NM_001193472.1	NP_001180400.1|NP_001180401.1	Q04609	FOLH1_HUMAN	folate hydrolase (prostate-specific membrane antigen) 1	500	NAALADase.				proteolysis	cytoplasm|integral to plasma membrane|membrane fraction|nucleus	carboxypeptidase activity|dipeptidase activity|metal ion binding|metallopeptidase activity			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(34)|ovary(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	60					Capromab(DB00089)|L-Glutamic Acid(DB00142)	GGAAGGACTTTTTTTAGTCCA	0.353													C	49179537	T	C	49179537	3	2	703	1	0	0	0	0	1	0	0	0	6028	1841	64	3	777	3	FOLH1	11	49179537	Missense_Mutation	SNP	T	TCGA-S9-A6U6-01A-12D-A33T-08	31656898	49179537	85826979	33	54257											
SNX32	254122	broad.mit.edu	37	chr11	65618619	65618619	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcgggccgaccgcgtcatgCgcgcccacaagtgtacgcag	7	5	14	15	7	1	0	1	0	0	0	1	1	1	0	3	1	3	2	3	1	2	1	rs147615662	byFrequency	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65618619C>T	ENST00000308342.6	+	7	1122	c.697C>T	c.(697-699)Cgc>Tgc	p.R233C		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	233					cell communication|protein transport		phosphatidylinositol binding	p.R233C(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCGCGTCATGCGCGCCCACAA	0.632											OREG0021087	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	65618619	C	T	65618619	3	4	703	1	0	0	0	0	1	0	0	0	14996	768	27	1	723	1	SNX32	11	65618619	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	16439082	65618619	69387897	34	54258											
CATSPER1	117144	broad.mit.edu	37	chr11	65787824	65787824	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggcctttgaacagcgcCgtctggaagctatccaccag	10	8	10	13	2	2	1	1	1	1	0	3	2	3	2	4	2	3	1	4	2	4	2	rs141309763		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:65787824C>T	ENST00000312106.5	-	8	2165	c.2028G>A	c.(2026-2028)acG>acA	p.T676T		NM_053054.3	NP_444282.3	Q8NEC5	CTSR1_HUMAN	cation channel, sperm associated 1	676					cell differentiation|multicellular organismal development|spermatogenesis	cilium|flagellar membrane|integral to membrane	protein binding			breast(3)|central_nervous_system(1)|endometrium(9)|kidney(3)|large_intestine(6)|liver(3)|lung(12)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44						TGAACAGCGCCGTCTGGAAGC	0.627													T	65787824	C	T	65787824	2	4	703	1	0	0	0	0	0	0	0	1	2713	639	23	1		1	CATSPER1	11	65787824	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	169205	65787824	69218692	35	54259											
LRRC32	2615	broad.mit.edu	37	chr11	76371819	76371819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagccggatgaggttgttgGacaagttcaggtagatgagt	10	10	17	4	1	1	3	1	2	0	1	1	6	1	6	1	5	1	4	1	5	2	4			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:76371819G>A	ENST00000407242.2	-	3	1060	c.818C>T	c.(817-819)tCc>tTc	p.S273F	LRRC32_ENST00000260061.5_Missense_Mutation_p.S273F|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000404995.1_Missense_Mutation_p.S273F|LRRC32_ENST00000464145.1_Intron	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	273						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						GAGGTTGTTGGACAAGTTCAG	0.642													A	76371819	G	A	76371819	3	1	703	1	0	0	0	0	1	0	0	0	9057	1174	41	2	1174	2	LRRC32	11	76371819	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	10583995	76371819	58634697	36	54260											
GRIA4	2893	broad.mit.edu	37	chr11	105769151	105769151	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggatctgagactcctccaAaggtatttgtttatttttat	10	17	7	7	0	1	1	0	1	1	1	3	3	3	2	2	2	0	2	2	2	4	7			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr11:105769151A>G	ENST00000393127.2	+	7	1329	c.883A>G	c.(883-885)Aag>Gag	p.K295E	GRIA4_ENST00000393125.2_Missense_Mutation_p.K295E|GRIA4_ENST00000428631.2_Missense_Mutation_p.K295E|GRIA4_ENST00000282499.5_Missense_Mutation_p.K295E|GRIA4_ENST00000530497.1_Missense_Mutation_p.K295E|GRIA4_ENST00000525187.1_Missense_Mutation_p.K295E	NM_001077243.2	NP_001070711	P48058	GRIA4_HUMAN	glutamate receptor, ionotropic, AMPA 4	295					glutamate signaling pathway|synaptic transmission	cell junction|endocytic vesicle membrane|integral to membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(24)|liver(2)|lung(25)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(6)	82		Melanoma(852;0.000902)|Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.0017)|Breast(348;0.0323)		BRCA - Breast invasive adenocarcinoma(274;0.000147)|Epithelial(105;0.0291)|all cancers(92;0.0899)	L-Glutamic Acid(DB00142)	GACTCCTCCAAAGGTATTTGT	0.313													G	105769151	A	G	105769151	3	3	703	1	0	0	0	0	1	0	0	0	6825	15	1	3	905	3	GRIA4	11	105769151	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08	29397332	105769151	29237365	37	54261											
H1FNT	341567	broad.mit.edu	37	chr12	48723148	48723148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggggccatggctgaggCgcctgggcccagtggcgaat	6	6	19	10	2	0	1	0	1	0	0	0	3	0	1	3	6	0	1	3	6	1	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:48723148C>T	ENST00000335017.1	+	1	386	c.74C>T	c.(73-75)gCg>gTg	p.A25V		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	25					chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						ATGGCTGAGGCGCCTGGGCCC	0.657													T	48723148	C	T	48723148	3	4	703	1	0	0	0	0	1	0	0	0	6976	768	27	1	76	1	H1FNT	12	48723148	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		48723148	85128747	38	54262											
GCN1L1	10985	broad.mit.edu	37	chr12	120574422	120574422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccacggagggcctcagggCgtcagccgaggtcaggcgga	8	3	18	12	4	3	0	3	0	0	0	3	4	3	2	3	6	1	0	3	6	0	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr12:120574422C>T	ENST00000300648.6	-	51	6904	c.6892G>A	c.(6892-6894)Gcc>Acc	p.A2298T		NM_006836.1	NP_006827	Q92616	GCN1L_HUMAN	GCN1 general control of amino-acid synthesis 1-like 1 (yeast)	2298				A -> V (in Ref. 7; AAC51648).	regulation of translation	ribosome	protein binding|translation factor activity, nucleic acid binding			NS(2)|breast(2)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(13)|liver(1)|lung(36)|ovary(4)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	94	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					GGCCTCAGGGCGTCAGCCGAG	0.622													T	120574422	C	T	120574422	3	4	703	1	0	0	0	0	1	0	0	0	6353	768	27	1	1155	1	GCN1L1	12	120574422	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	71851274	120574422	13277473	39	54263											
ENOX1	55068	broad.mit.edu	37	chr13	43918782	43918782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggcggacgtggctgttggCcgactgcaccatggaataga	8	7	15	11	4	0	1	0	0	0	1	0	4	0	3	3	5	1	3	3	5	2	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:43918782C>T	ENST00000261488.6	-	9	1505	c.928G>A	c.(928-930)Gcc>Acc	p.A310T	ENOX1_ENST00000540032.1_Missense_Mutation_p.A123T|ENOX1_ENST00000412891.1_Missense_Mutation_p.A310T	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	310					electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity			breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		TGGCTGTTGGCCGACTGCACC	0.488													T	43918782	C	T	43918782	3	4	703	1	0	0	0	0	1	0	0	0	5167	739	26	2	1039	2	ENOX1	13	43918782	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		43918782	71251096	40	54264											
LMO7	4008	broad.mit.edu	37	chr13	76429413	76429413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggtcagtcagtgggaagcGcatatgctcctactgcaata	11	10	11	9	1	2	0	2	0	0	0	3	1	3	1	1	2	4	3	1	2	6	4	rs144929980	by1000genomes	TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr13:76429413G>A	ENST00000341547.4	+	28	5093	c.3833G>A	c.(3832-3834)cGc>cAc	p.R1278H	LMO7_ENST00000465261.2_Intron|LMO7_ENST00000321797.8_Missense_Mutation_p.R1327H|LMO7_ENST00000377534.3_Intron|LMO7_ENST00000526202.1_Missense_Mutation_p.R1204H|LMO7_ENST00000357063.3_Intron	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	1612						cytoplasm|nucleus|ubiquitin ligase complex	ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		AGTGGGAAGCGCATATGCTCC	0.453													A	76429413	G	A	76429413	3	1	703	1	0	0	0	0	1	0	0	0	8916	1087	38	1	4953	1	LMO7	13	76429413	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	32510631	76429413	38740465	41	54265											
AHNAK2	113146	broad.mit.edu	37	chr14	105412807	105412807	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccgagacctcaatggacttgCctggggcagacaccccgaac	10	5	11	15	2	1	2	1	0	0	2	1	5	1	3	5	3	2	1	5	3	2	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr14:105412807C>T	ENST00000333244.5	-	7	9100	c.8981G>A	c.(8980-8982)gGc>gAc	p.G2994D	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	2994						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			AATGGACTTGCCTGGGGCAGA	0.592													T	105412807	C	T	105412807	3	4	703	1	0	0	0	0	1	0	0	0	415	739	26	2	8410	2	AHNAK2	14	105412807	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		105412807	1936733	42	54266											
SLC27A2	11001	broad.mit.edu	37	chr15	50526124	50526124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaccatgaatttgatGgaaagaaactctttcagcac	18	9	7	7	0	2	4	1	2	1	2	2	5	2	5	1	1	3	1	1	1	6	2			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr15:50526124G>A	ENST00000267842.5	+	9	1847	c.1615G>A	c.(1615-1617)Gga>Aga	p.G539R	SLC27A2_ENST00000544960.1_Missense_Mutation_p.G304R|SLC27A2_ENST00000380902.4_Missense_Mutation_p.G486R	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	539					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		TGAATTTGATGGAAAGAAACT	0.378													A	50526124	G	A	50526124	3	1	703	1	0	0	0	0	1	0	0	0	14620	1349	47	2	1649	2	SLC27A2	15	50526124	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		50526124	52005268	43	54267											
GRIN2A	2903	broad.mit.edu	37	chr16	9858072	9858072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttgtctctaggggagcttGatttggttttcaggtaggtg	5	17	14	5	0	3	1	1	1	2	0	4	2	3	2	0	5	1	3	0	5	2	7			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:9858072G>A	ENST00000396573.2	-	14	3638	c.3329C>T	c.(3328-3330)tCa>tTa	p.S1110L	GRIN2A_ENST00000562109.1_Missense_Mutation_p.S1110L|GRIN2A_ENST00000404927.2_Missense_Mutation_p.S1110L|GRIN2A_ENST00000330684.3_Missense_Mutation_p.S1110L|GRIN2A_ENST00000535259.1_Missense_Mutation_p.S953L|GRIN2A_ENST00000396575.2_Missense_Mutation_p.S1110L	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	1110					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	AGGGGAGCTTGATTTGGTTTT	0.478													A	9858072	G	A	9858072	3	1	703	1	0	0	0	0	1	0	0	0	6834	1294	45	2	1069	2	GRIN2A	16	9858072	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		9858072	80496681	44	54268											
CCDC135	84229	broad.mit.edu	37	chr16	57761287	57761287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccatctatgacaccaagcGgaatgagaagagcaaggaat	16	6	10	9	1	1	3	0	2	1	2	2	6	2	5	2	2	2	1	2	2	6	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr16:57761287G>A	ENST00000360716.3	+	16	2383	c.2162G>A	c.(2161-2163)cGg>cAg	p.R721Q	CCDC135_ENST00000394337.4_Missense_Mutation_p.R721Q|CCDC135_ENST00000336825.8_Missense_Mutation_p.R656Q			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	721						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						GACACCAAGCGGAATGAGAAG	0.567													A	57761287	G	A	57761287	3	1	703	1	0	0	0	0	1	0	0	0	2795	1116	39	1	2216	1	CCDC135	16	57761287	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	47903215	57761287	32593466	45	54269											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	703	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		7577121	73618089	46	54270											
ANKRD29	147463	broad.mit.edu	37	chr18	21199494	21199494	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgcgactcgggcactcaCgttccgcgcagcgtcgcggt	4	6	14	17	10	1	0	1	0	0	0	4	1	2	0	2	2	1	3	2	2	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr18:21199494C>T	ENST00000592179.1	-	7	782		c.e7+1		ANKRD29_ENST00000586511.1_5'UTR|ANKRD29_ENST00000284207.7_Splice_Site|ANKRD29_ENST00000322980.9_Splice_Site	NM_173505.2	NP_775776.2	Q8N6D5	ANR29_HUMAN	ankyrin repeat domain 29											breast(1)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)	13	all_cancers(21;5.07e-05)|all_epithelial(16;2.49e-07)|Lung NSC(20;0.00211)|all_lung(20;0.00676)|Colorectal(14;0.0202)|Ovarian(20;0.127)					CGGGCACTCACGTTCCGCGCA	0.687													T	21199494	C	T	21199494	5	4	703	1	0	0	0	0	0	0	1	0	657	550	19	1	293	1	ANKRD29	18	21199494	Splice_Site	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08		21199494	56877754	47	54271											
BSG	682	broad.mit.edu	37	chr19	580702	580702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acatcaacgagggggagacgGccatgctggtctgcaagtca	11	6	14	10	2	3	1	2	0	1	1	3	3	3	1	1	4	3	2	1	4	2	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:580702G>A	ENST00000333511.3	+	5	782	c.712G>A	c.(712-714)Gcc>Acc	p.A238T	BSG_ENST00000346916.4_Missense_Mutation_p.A58T|BSG_ENST00000353555.4_Missense_Mutation_p.A122T|BSG_ENST00000545507.2_Missense_Mutation_p.A29T	NM_001728.3	NP_001719.2	P35613	BASI_HUMAN	basigin	238	Ig-like V-type.				blood coagulation|cell surface receptor linked signaling pathway|leukocyte migration|pyruvate metabolic process	Golgi membrane|integral to membrane|melanosome	lactate transmembrane transporter activity|mannose binding|protein binding			central_nervous_system(1)|endometrium(3)|lung(1)	5		all_epithelial(18;2.78e-22)|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)		GGGGGAGACGGCCATGCTGGT	0.602													A	580702	G	A	580702	3	1	703	1	0	0	0	0	1	0	0	0	1538	1203	42	2	766	2	BSG	19	580702	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		580702	58548281	48	54272											
COMP	1311	broad.mit.edu	37	chr19	18896653	18896653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctggcacacgtcgcccaCgccgtcccctgagaggtggg	5	6	14	16	4	0	1	0	1	0	1	3	2	2	1	5	3	0	1	5	3	0	0			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:18896653C>T	ENST00000542601.2	-	13	1788	c.1399G>A	c.(1399-1401)Gtg>Atg	p.V467M	COMP_ENST00000425807.1_Missense_Mutation_p.V447M|COMP_ENST00000222271.2_Missense_Mutation_p.V500M			P49747	COMP_HUMAN	cartilage oligomeric matrix protein	500					anti-apoptosis|apoptosis|cell adhesion|limb development	extracellular space|proteinaceous extracellular matrix	calcium ion binding|collagen binding|extracellular matrix structural constituent|heparan sulfate proteoglycan binding|heparin binding			breast(6)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ACGTCGCCCACGCCGTCCCCT	0.672													T	18896653	C	T	18896653	3	4	703	1	0	0	0	0	1	0	0	0	3755	536	19	1	799	1	COMP	19	18896653	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	18315951	18896653	40232330	49	54273											
LGALS4	3960	broad.mit.edu	37	chr19	39299489	39299489	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacttcccgccctgcaaCgtgttgaagaccaccttgtc	7	9	7	18	2	0	2	0	1	0	1	2	2	1	2	6	0	2	2	6	0	2	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:39299489C>T	ENST00000307751.4	-	3	711	c.234G>A	c.(232-234)acG>acA	p.T78T	LGALS4_ENST00000597803.1_Intron	NM_006149.3	NP_006140.1	P56470	LEG4_HUMAN	lectin, galactoside-binding, soluble, 4	78	Galectin 1.				cell adhesion	cytosol|plasma membrane	sugar binding			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	17	all_cancers(60;1.02e-05)|Ovarian(47;0.0454)		Lung(45;0.00416)|LUSC - Lung squamous cell carcinoma(53;0.00741)			CGCCCTGCAACGTGTTGAAGA	0.582													T	39299489	C	T	39299489	2	4	703	1	0	0	0	0	0	0	0	1	8804	523	19	1		1	LGALS4	19	39299489	Silent	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	20402836	39299489	19829494	50	54274											
PSG6	5675	broad.mit.edu	37	chr19	43411250	43411250	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgccggtgggttagagtccGcaaagcaggacaagtcgagg	10	6	16	9	3	0	1	0	0	0	1	2	3	1	2	2	4	2	3	2	4	3	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr19:43411250G>A	ENST00000187910.2	-	5	1129	c.1064C>T	c.(1063-1065)gCg>gTg	p.A355V	PSG6_ENST00000402603.4_Missense_Mutation_p.A262V|PSG6_ENST00000292125.2_Missense_Mutation_p.A355V	NM_001031850.3	NP_001027020.1			pregnancy specific beta-1-glycoprotein 6											central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(3)|lung(19)|ovary(1)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)	44		Prostate(69;0.00899)				GTTAGAGTCCGCAAAGCAGGA	0.448													A	43411250	G	A	43411250	3	1	703	1	0	0	0	0	1	0	0	0	12744	1087	38	1	290	1	PSG6	19	43411250	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	4111761	43411250	15717733	51	54275											
NRSN2	80023	broad.mit.edu	37	chr20	330364	330364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggcaagtggtatggggtccGctcctacctgcacctcttct	5	12	11	13	1	2	0	0	0	2	0	4	0	4	0	4	4	2	4	4	4	3	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:330364G>A	ENST00000382291.3	+	3	317	c.77G>A	c.(76-78)cGc>cAc	p.R26H	NRSN2_ENST00000382285.2_Missense_Mutation_p.R26H|NRSN2_ENST00000492242.1_Intron|NRSN2_ENST00000608736.1_Missense_Mutation_p.R26H	NM_024958.2	NP_079234.1	Q9GZP1	NRSN2_HUMAN	neurensin 2	26						integral to membrane|plasma membrane|transport vesicle				endometrium(1)|large_intestine(2)|lung(4)|urinary_tract(1)	8		all_cancers(10;0.0834)				TATGGGGTCCGCTCCTACCTG	0.662													A	330364	G	A	330364	3	1	703	1	0	0	0	0	1	0	0	0	10739	1087	38	1	79	1	NRSN2	20	330364	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08		330364	62695156	52	54276											
ANGPT4	51378	broad.mit.edu	37	chr20	865871	865871	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgagggcggcgctctggcGgctcagcgtgttcagcagct	4	8	18	11	4	3	1	2	1	1	0	3	1	3	1	0	5	3	5	0	5	0	1			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:865871G>A	ENST00000381922.3	-	4	787	c.685C>T	c.(685-687)Cgc>Tgc	p.R229C	ANGPT4_ENST00000546022.1_Missense_Mutation_p.R229C	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	229					anti-apoptosis|blood coagulation|cellular response to hypoxia|leukocyte migration|negative regulation of angiogenesis|negative regulation of blood vessel endothelial cell migration|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of peptidyl-tyrosine phosphorylation|signal transduction	extracellular space	receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGCTCTGGCGGCTCAGCGTG	0.672													A	865871	G	A	865871	3	1	703	1	0	0	0	0	1	0	0	0	612	1116	39	1	850	1	ANGPT4	20	865871	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	535507	865871	62159649	53	54277											
NCOA3	8202	broad.mit.edu	37	chr20	46281698	46281698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttcccagcagcagtttgCccaccaggggaatcctgcag	8	9	10	14	0	0	0	0	0	0	0	2	1	2	1	4	2	4	4	4	2	1	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:46281698C>T	ENST00000372004.3	+	22	4349	c.4133C>T	c.(4132-4134)gCc>gTc	p.A1378V	NCOA3_ENST00000341724.6_Missense_Mutation_p.A1308V|NCOA3_ENST00000371998.3_Missense_Mutation_p.A1382V|NCOA3_ENST00000371997.3_Missense_Mutation_p.A1373V	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1382					androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						CAGCAGTTTGCCCACCAGGGG	0.478													T	46281698	C	T	46281698	3	4	703	1	0	0	0	0	1	0	0	0	10306	739	26	2	4253	2	NCOA3	20	46281698	Missense_Mutation	SNP	C	TCGA-S9-A6U6-01A-12D-A33T-08	45415827	46281698	16743822	54	54278											
ZNF512B	57473	broad.mit.edu	37	chr20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtacgggtttggtgaccgGcacagacttggtgactgtga	8	10	16	7	2	0	4	0	3	0	1	0	4	0	4	1	5	1	3	1	5	1	3			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S|ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572													A	62597735	G	A	62597735	3	1	703	1	0	0	0	0	1	0	0	0	18058	1203	42	2	1937	2	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-S9-A6U6-01A-12D-A33T-08	16316037	62597735	427785	55	54279											
SMC1B	27127	broad.mit.edu	37	chr22	45757767	45757767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcttcaatttgagtttgaActttctcggcactggagttc	7	16	8	10	1	3	2	1	2	2	0	5	3	3	3	1	2	1	3	1	2	2	5			TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chr22:45757767A>G	ENST00000357450.4	-	17	2659	c.2660T>C	c.(2659-2661)gTt>gCt	p.V887A	SMC1B_ENST00000404354.3_Missense_Mutation_p.V887A	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	887					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTGAGTTTGAACTTTCTCGGC	0.418													G	45757767	A	G	45757767	3	3	703	1	0	0	0	0	1	0	0	0	14876	43	2	3	1083	3	SMC1B	22	45757767	Missense_Mutation	SNP	A	TCGA-S9-A6U6-01A-12D-A33T-08		45757767	5546799	56	54280											
ATRX	546	broad.mit.edu	37	chrX	76918997	76918998	+	Frame_Shift_Ins	INS	-	-	A																															tgtctgtatcttggcttcttINSagattcttcagaatctgaat																										TCGA-S9-A6U6-01A-12D-A33T-08	TCGA-S9-A6U6-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b9515c94-08f9-4ceb-90ee-77ba45799a7d	7c4341d0-cc61-42a5-9c55-d326e7c788f1	g.chrX:76918997_76918998insA	ENST00000373344.5	-	12	4207_4208	c.3993_3994insT	c.(3991-3996)tctaagfs	p.K1332fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.K1294fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1332					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)	CTTGGCTTCTTAGATTCTTCAG	0.351			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76918998	-	A	76918997	7	5	703	1	0	1	1	0	0	0	0	0	1213	1763	61	0	3580	0	ATRX	23	76918997	Frame_Shift_Ins	INS	-	TCGA-S9-A6U6-01A-12D-A33T-08		76918997	78351563	57	54281											
E2F2	1870	broad.mit.edu	37	chr1	23848548	23848548	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctccccgggggatttggggGctgaagaagaaagggaccca	10	6	16	9	1	1	3	0	1	1	2	2	5	1	5	3	5	0	1	3	5	3	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:23848548G>A	ENST00000361729.2	-	3	785	c.359C>T	c.(358-360)aCc>aTc	p.T120I		NM_004091.3	NP_004082.1	Q14209	E2F2_HUMAN	E2F transcription factor 2	120					G1 phase of mitotic cell cycle|transcription initiation from RNA polymerase II promoter	transcription factor complex	DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	p.T120I(1)		endometrium(4)|large_intestine(2)|lung(1)|ovary(3)|skin(2)|urinary_tract(1)	13		Colorectal(325;3.46e-05)|Lung NSC(340;4.15e-05)|all_lung(284;6.64e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.52e-24)|Colorectal(126;6.25e-08)|COAD - Colon adenocarcinoma(152;3.42e-06)|GBM - Glioblastoma multiforme(114;8.98e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00102)|KIRC - Kidney renal clear cell carcinoma(1967;0.00366)|STAD - Stomach adenocarcinoma(196;0.0132)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.0888)|LUSC - Lung squamous cell carcinoma(448;0.19)		GGATTTGGGGGCTGAAGAAGA	0.587													A	23848548	G	A	23848548	5	1	704	1	0	0	0	0	0	0	1	0	4906	1217	42	2	974	2	E2F2	1	23848548	Splice_Site	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		23848548	225402073	1	54282											
CR1	1378	broad.mit.edu	37	chr1	207758074	207758074	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatattccctatggaaaaGaaatatcttacacatgtgac	16	11	7	7	0	1	3	0	1	1	2	2	5	2	4	1	1	1	0	1	1	7	5			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr1:207758074G>T	ENST00000367049.4	+	33	5383	c.5383G>T	c.(5383-5385)Gaa>Taa	p.E1795*	RP11-78B10.2_ENST00000597497.1_RNA|CR1_ENST00000367051.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000400960.2_Nonsense_Mutation_p.E1345*|RP11-78B10.2_ENST00000596003.1_RNA|CR1_ENST00000367052.1_Nonsense_Mutation_p.E1345*|CR1_ENST00000367053.1_Nonsense_Mutation_p.E1345*	NM_000651.4	NP_000642.3	P17927	CR1_HUMAN	complement component (3b/4b) receptor 1 (Knops blood group)	1345	Sushi 28.				complement activation, classical pathway|innate immune response	integral to plasma membrane	complement receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(9)|kidney(11)|large_intestine(13)|lung(33)|ovary(3)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	82						CTATGGAAAAGAAATATCTTA	0.473													T	207758074	G	T	207758074	4	4	704	1	0	0	0	0	0	1	0	0	3871	943	33	4	5513	4	CR1	1	207758074	Nonsense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	183909526	207758074	41492547	2	54283											
RGPD8	727851	broad.mit.edu	37	chr2	113147636	113147636	+	Frame_Shift_Del	DEL	A	A	-																															aaagtgctacttgtttggccAaaaatcacaccacggccctt																										TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:113147636delA	ENST00000302558.3	-	20	3077	c.2886delT	c.(2884-2886)tttfs	p.F962fs	RGPD8_ENST00000409750.1_Frame_Shift_Del_p.F822fs	NM_001164463.1	NP_001157935.1			RANBP2-like and GRIP domain containing 8											endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TTGTTTGGCCAAAAATCACAC	0.408													-	113147636	A	-	113147636	7	5	704	1	0	1	0	1	0	0	0	0	13379	127	5	0	2427	0	RGPD8	2	113147636	Frame_Shift_Del	DEL	A	TCGA-S9-A6U8-01A-21D-A33T-08		113147636	130051737	3	54284											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000446179.1_Missense_Mutation_p.R132C|IDH1_ENST00000345146.2_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	704	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08	95965477	209113113	34086260	4	54285											
C4orf21	55345	broad.mit.edu	37	chr4	113540265	113540265	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgattgatgctggtagtaTaaattttctgtgctcttcat	8	19	8	6	0	4	2	1	2	3	0	4	2	4	2	0	1	2	4	0	1	4	7			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr4:113540265T>C	ENST00000505019.1	-	6	1058	c.933A>G	c.(931-933)ttA>ttG	p.L311L	C4orf21_ENST00000445203.2_Silent_p.L280L|C4orf21_ENST00000309071.5_Silent_p.L311L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	311										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		GCTGGTAGTATAAATTTTCTG	0.368													C	113540265	T	C	113540265	2	2	704	1	0	0	0	0	0	0	0	1	2276	1403	49	3		3	C4orf21	4	113540265	Silent	SNP	T	TCGA-S9-A6U8-01A-21D-A33T-08		113540265	77614011	5	54286											
BTNL8	79908	broad.mit.edu	37	chr5	180335642	180335642	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggccttggtgggggaggacGcagcattctcctgtttcctg	5	11	15	10	1	1	0	0	0	1	0	3	2	2	2	3	5	1	3	3	5	0	3			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr5:180335642G>A	ENST00000231229.4	+	2	340	c.106G>A	c.(106-108)Gca>Aca	p.A36T	BTNL8_ENST00000400707.3_Intron|BTNL8_ENST00000511704.1_Intron|BTNL8_ENST00000508408.1_Missense_Mutation_p.A36T|BTNL8_ENST00000340184.4_Missense_Mutation_p.A36T	NM_001159708.1|NM_024850.2	NP_001153180.1|NP_079126.1	Q6UX41	BTNL8_HUMAN	butyrophilin-like 8	36	Ig-like V-type 1.					integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	28	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.0801)|Medulloblastoma(196;0.0392)|all_neural(177;0.0529)|all_hematologic(541;0.191)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGGGAGGACGCAGCATTCTC	0.537													A	180335642	G	A	180335642	3	1	704	1	0	0	0	0	1	0	0	0	1577	1087	38	1	138	1	BTNL8	5	180335642	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		180335642	579618	6	54287											
KATNA1	11104	broad.mit.edu	37	chr6	149922761	149922761	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagacgaacaagcttctcaGattctcctctgtatttggaa	12	12	8	9	1	3	2	1	0	3	2	5	5	3	3	1	1	2	2	1	1	5	4			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr6:149922761G>C	ENST00000367411.2	-	7	1115	c.857C>G	c.(856-858)tCt>tGt	p.S286C	KATNA1_ENST00000494504.1_5'UTR|KATNA1_ENST00000335643.8_Missense_Mutation_p.S210C|KATNA1_ENST00000335647.5_Missense_Mutation_p.S286C	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN	katanin p60 (ATPase containing) subunit A 1	286					cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AAGCTTCTCAGATTCTCCTCT	0.408													C	149922761	G	C	149922761	3	2	704	1	0	0	0	0	1	0	0	0	8042	942	33	4	638	4	KATNA1	6	149922761	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		149922761	21192306	7	54288											
TNRC18	84629	broad.mit.edu	37	chr7	5360235	5360235	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcaccctccaccaccacgcgGtatctgtaggagcaaacgag	11	6	9	15	3	2	0	1	0	1	0	3	2	3	1	4	2	2	3	4	2	3	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr7:5360235G>C	ENST00000399537.4	-	23	6912	c.6564C>G	c.(6562-6564)taC>taG	p.Y2188*	TNRC18_ENST00000430969.1_Nonsense_Mutation_p.Y2188*			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2188							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCACCACGCGGTATCTGTAGG	0.672													C	5360235	G	C	5360235	4	2	704	1	0	0	0	0	0	1	0	0	16439	1256	44	4	2374	4	TNRC18	7	5360235	Nonsense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		5360235	153778428	8	54289											
CSMD3	114788	broad.mit.edu	37	chr8	113301656	113301656	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcaggttcttgatgactggCctaaaagggaacgctttcct	9	11	12	9	1	1	2	0	2	1	0	2	3	2	3	2	4	1	3	2	4	3	4			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr8:113301656C>T	ENST00000297405.5	-	57	9330	c.9086G>A	c.(9085-9087)gGc>gAc	p.G3029D	CSMD3_ENST00000455883.2_Missense_Mutation_p.G2860D|CSMD3_ENST00000352409.3_Missense_Mutation_p.G2959D|CSMD3_ENST00000343508.3_Missense_Mutation_p.G2989D	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3029	Sushi 21.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATGACTGGCCTAAAAGGGA	0.463										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113301656	C	T	113301656	3	4	704	1	0	0	0	0	1	0	0	0	3979	739	26	2	2097	2	CSMD3	8	113301656	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		113301656	33062366	9	54290											
SMARCA2	6595	broad.mit.edu	37	chr9	2084102	2084102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtactcctgccatgcGtcgctcccttgtcccccagc	4	10	9	18	2	1	0	1	0	0	0	5	0	4	0	5	1	4	2	5	1	1	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:2084102G>A	ENST00000382203.1	+	17	2641	c.2432G>A	c.(2431-2433)cGt>cAt	p.R811H	SMARCA2_ENST00000357248.2_Missense_Mutation_p.R811H|SMARCA2_ENST00000382194.1_Missense_Mutation_p.R811H|SMARCA2_ENST00000349721.2_Missense_Mutation_p.R811H			P51531	SMCA2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2	811	Helicase ATP-binding.				chromatin remodeling|negative regulation of cell growth|negative regulation of transcription from RNA polymerase II promoter|nervous system development	intermediate filament cytoskeleton|nBAF complex|npBAF complex|nuclear chromatin|nucleoplasm|SWI/SNF complex|WINAC complex	ATP binding|DNA-dependent ATPase activity|helicase activity|protein binding|RNA polymerase II transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		all_lung(10;2.06e-09)|Lung NSC(10;2.43e-09)		GBM - Glioblastoma multiforme(50;0.0475)		CCTGCCATGCGTCGCTCCCTT	0.403													A	2084102	G	A	2084102	3	1	704	1	0	0	0	0	1	0	0	0	14863	1145	40	1	2494	1	SMARCA2	9	2084102	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		2084102	139129329	10	54291											
PDCL	5082	broad.mit.edu	37	chr9	125582829	125582829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgtgaagctgctgccgcatCtcttccattcgctgcttccg	4	14	9	14	3	1	1	0	1	1	0	5	1	3	1	3	0	4	5	3	0	1	4			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr9:125582829C>G	ENST00000259467.4	-	4	606	c.441G>C	c.(439-441)gaG>gaC	p.E147D		NM_005388.4	NP_005379.3	Q13371	PHLP_HUMAN	phosducin-like	147					signal transduction|visual perception					endometrium(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	10						GCTGCCGCATCTCTTCCATTC	0.473													G	125582829	C	G	125582829	3	3	704	1	0	0	0	0	1	0	0	0	11702	912	32	4	468	4	PDCL	9	125582829	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	123498727	125582829	15630602	11	54292											
AKAP3	10566	broad.mit.edu	37	chr12	4736590	4736590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcttcagggtactcaaagGaaatgtctgatgcaggctta	12	12	10	7	0	4	1	2	1	2	0	4	2	4	2	0	3	2	3	0	3	5	4			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:4736590G>A	ENST00000545990.2	-	5	2002	c.1478C>T	c.(1477-1479)tCc>tTc	p.S493F	AKAP3_ENST00000228850.1_Missense_Mutation_p.S493F|RP11-500M8.7_ENST00000536588.1_Intron	NM_001278309.1	NP_001265238.1	O75969	AKAP3_HUMAN	A kinase (PRKA) anchor protein 3	493					acrosome reaction|cellular component movement	acrosomal vesicle	protein kinase A binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(13)|liver(1)|lung(17)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	51						GTACTCAAAGGAAATGTCTGA	0.453													A	4736590	G	A	4736590	3	1	704	1	0	0	0	0	1	0	0	0	452	1174	41	2	1091	2	AKAP3	12	4736590	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		4736590	129115305	12	54293											
KNTC1	9735	broad.mit.edu	37	chr12	123071291	123071291	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctaccagtttgccatactgCtcccttaatgaaggtatttg	9	15	7	10	0	1	1	0	1	1	0	2	1	2	1	3	1	4	3	3	1	5	6			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr12:123071291C>T	ENST00000333479.7	+	38	3894	c.3717C>T	c.(3715-3717)tgC>tgT	p.C1239C	KNTC1_ENST00000450485.2_Intron	NM_014708.4	NP_055523.1	P50748	KNTC1_HUMAN	kinetochore associated 1	1239					cell division|mitotic cell cycle checkpoint|mitotic prometaphase|protein complex assembly|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|kinetochore microtubule|nucleus|spindle pole	protein binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(12)|kidney(8)|large_intestine(12)|lung(20)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(4)	72	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.21e-05)|Epithelial(86;0.000178)|BRCA - Breast invasive adenocarcinoma(302;0.217)		TGCCATACTGCTCCCTTAATG	0.294													T	123071291	C	T	123071291	2	4	704	1	0	0	0	0	0	0	0	1	8486	805	28	2		2	KNTC1	12	123071291	Silent	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	118334701	123071291	10780604	13	54294											
SPERT	220082	broad.mit.edu	37	chr13	46287414	46287414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggctgagccgcaggatggCgagccagcactcctatccac	8	5	12	16	3	0	1	0	1	0	0	2	3	2	2	5	3	3	3	5	3	1	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr13:46287414C>T	ENST00000378966.3	+	2	562	c.146C>T	c.(145-147)gCg>gTg	p.A49V	SPERT_ENST00000310521.1_Missense_Mutation_p.A85V			Q8NA61	SPERT_HUMAN	spermatid associated	85						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		CGCAGGATGGCGAGCCAGCAC	0.672													T	46287414	C	T	46287414	3	4	704	1	0	0	0	0	1	0	0	0	15135	768	27	1	264	1	SPERT	13	46287414	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		46287414	68882464	14	54295											
TRIP11	9321	broad.mit.edu	37	chr14	92472597	92472597	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtttctgcttggttaaatGtaaatcatttagggccactt	11	16	8	6	0	2	0	1	0	1	0	2	0	2	0	1	2	1	4	1	2	6	7			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr14:92472597G>A	ENST00000267622.4	-	11	2096	c.1723C>T	c.(1723-1725)Cat>Tat	p.H575Y		NM_004239.3	NP_004230.2	Q15643	TRIPB_HUMAN	thyroid hormone receptor interactor 11	575					transcription from RNA polymerase II promoter	cytoskeleton|Golgi apparatus|membrane|nucleus	protein binding|transcription coactivator activity			breast(3)|central_nervous_system(2)|endometrium(1)|kidney(8)|large_intestine(12)|lung(17)|ovary(7)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	58				COAD - Colon adenocarcinoma(157;0.223)		TTGGTTAAATGTAAATCATTT	0.318			T	PDGFRB	AML								A	92472597	G	A	92472597	3	1	704	1	0	0	0	0	1	0	0	0	16656	1377	48	2	4260	2	TRIP11	14	92472597	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		92472597	14876943	15	54296											
SORD	6652	broad.mit.edu	37	chr15	45357562	45357562	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcggagttaccctgggAcacaaggtccttgtgtgtgg	8	9	16	8	1	0	1	0	0	0	1	1	3	1	3	2	5	1	1	2	5	2	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:45357562A>G	ENST00000267814.9	+	5	699	c.519A>G	c.(517-519)ggA>ggG	p.G173G	SORD_ENST00000558580.1_Silent_p.G152G	NM_003104.5	NP_003095.2	Q00796	DHSO_HUMAN	sorbitol dehydrogenase	173					fructose biosynthetic process|glucose metabolic process|L-xylitol catabolic process|sorbitol catabolic process|sperm motility	cilium|extracellular space|flagellum|membrane fraction|mitochondrial membrane|soluble fraction	L-iditol 2-dehydrogenase activity|NAD binding|sugar binding|zinc ion binding			endometrium(2)|large_intestine(3)|lung(4)	9		all_cancers(109;3.43e-12)|all_epithelial(112;2.33e-10)|Lung NSC(122;6.01e-07)|all_lung(180;4.38e-06)|Melanoma(134;0.0122)		all cancers(107;1.6e-18)|GBM - Glioblastoma multiforme(94;4.95e-07)|COAD - Colon adenocarcinoma(120;0.0704)|Colorectal(133;0.0706)	NADH(DB00157)	TTACCCTGGGACACAAGGTCC	0.562													G	45357562	A	G	45357562	2	3	704	1	0	0	0	0	0	0	0	1	15027	262	10	3		3	SORD	15	45357562	Silent	SNP	A	TCGA-S9-A6U8-01A-21D-A33T-08		45357562	57173830	16	54297											
ACAN	176	broad.mit.edu	37	chr15	89417087	89417087	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctcagtggcctgcggagagCcccctgtggtggagcatgcc	5	7	15	14	1	1	1	1	0	0	1	1	3	1	2	5	4	4	1	5	4	0	0			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr15:89417087C>T	ENST00000439576.2	+	17	7722	c.7348C>T	c.(7348-7350)Ccc>Tcc	p.P2450S	ACAN_ENST00000561243.1_Missense_Mutation_p.P2450S|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000559004.1_Missense_Mutation_p.P2412S	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2450					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CTGCGGAGAGCCCCCTGTGGT	0.592													T	89417087	C	T	89417087	3	4	704	1	0	0	0	0	1	0	0	0	117	739	26	2	7410	2	ACAN	15	89417087	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	44059525	89417087	13114305	17	54298											
NKD1	85407	broad.mit.edu	37	chr16	50666305	50666305	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cgggatagaaaactacacgtCccaatttgggcctggtaagg	12	8	12	9	2	0	1	0	0	0	1	1	2	1	2	2	4	2	1	2	4	6	4			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr16:50666305C>G	ENST00000268459.3	+	9	1033	c.809C>G	c.(808-810)tCc>tGc	p.S270C		NM_033119.4	NP_149110.1	Q969G9	NKD1_HUMAN	naked cuticle homolog 1 (Drosophila)	270					Wnt receptor signaling pathway	cytoplasm|plasma membrane	calcium ion binding|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|prostate(1)|urinary_tract(2)	23		all_cancers(37;0.229)		GBM - Glioblastoma multiforme(240;0.243)		AACTACACGTCCCAATTTGGG	0.597													G	50666305	C	G	50666305	3	3	704	1	0	0	0	0	1	0	0	0	10517	855	30	4	843	4	NKD1	16	50666305	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		50666305	39688448	18	54299											
TP53	7157	broad.mit.edu	37	chr17	7577570	7577570	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgcaggaactgttacaCatgtagttgtagtggatggt	10	12	12	7	0	0	0	0	0	0	0	0	2	0	2	1	3	3	5	1	3	4	4			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr17:7577570C>T	ENST00000420246.2	-	7	843	c.711G>A	c.(709-711)atG>atA	p.M237I	TP53_ENST00000455263.2_Missense_Mutation_p.M237I|TP53_ENST00000269305.4_Missense_Mutation_p.M237I|TP53_ENST00000445888.2_Missense_Mutation_p.M237I|TP53_ENST00000359597.4_Missense_Mutation_p.M237I|TP53_ENST00000413465.2_Missense_Mutation_p.M237I	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.M237I(109)|p.0?(8)|p.?(5)|p.M144I(4)|p.M237_N239delMCN(4)|p.Y236_M237delYM(1)|p.H233fs*6(1)|p.M144_N146delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.C238fs*2(1)|p.V225fs*23(1)|p.M237_C238insX(1)|p.H233_C242del10(1)|p.M237fs*1(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)		AACTGTTACACATGTAGTTGT	0.567		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)			T	7577570	C	T	7577570	3	4	704	1	0	0	0	0	1	0	0	0	16482	478	17	2	579	2	TP53	17	7577570	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08		7577570	73617640	19	54300											
MUC16	94025	broad.mit.edu	37	chr19	9073155	9073155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaggtactgtgccattgcGgtgtgaaagcaacagaagaa	14	7	14	6	1	0	3	0	1	0	2	0	4	0	4	1	3	5	2	1	3	5	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:9073155G>A	ENST00000397910.4	-	3	14494	c.14291C>T	c.(14290-14292)cCg>cTg	p.P4764L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4766	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.P4764L(2)|p.P397L(1)		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						GTGCCATTGCGGTGTGAAAGC	0.488													A	9073155	G	A	9073155	3	1	704	1	0	0	0	0	1	0	0	0	10049	1116	39	1	29560	1	MUC16	19	9073155	Missense_Mutation	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		9073155	50055828	20	54301											
SIGLEC9	27180	broad.mit.edu	37	chr19	51628302	51628302	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagacaagtaaactgctgaCgatgcagagttccgtgacgg	13	7	12	9	3	0	4	0	2	0	2	1	5	1	4	1	1	3	4	1	1	3	2			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr19:51628302C>T	ENST00000440804.3	+	1	138	c.71C>T	c.(70-72)aCg>aTg	p.T24M	SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T24M	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	24	Ig-like V-type.				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		AAACTGCTGACGATGCAGAGT	0.617													T	51628302	C	T	51628302	3	4	704	1	0	0	0	0	1	0	0	0	14409	536	19	1	73	1	SIGLEC9	19	51628302	Missense_Mutation	SNP	C	TCGA-S9-A6U8-01A-21D-A33T-08	42555147	51628302	7500681	21	54302											
KIAA1755	85449	broad.mit.edu	37	chr20	36874469	36874469	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acggtgggtgctgtggcctcGaaaggaggatagaggcccgc	8	6	18	9	3	0	1	0	0	0	1	1	4	0	3	2	6	1	1	2	6	2	1			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chr20:36874469G>A	ENST00000279024.4	-	2	334	c.63C>T	c.(61-63)ttC>ttT	p.F21F		NM_001029864.1	NP_001025035.1	Q5JYT7	K1755_HUMAN	KIAA1755	21										breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(5)|pancreas(2)|skin(4)|stomach(1)	54		Myeloproliferative disorder(115;0.00874)				CTGTGGCCTCGAAAGGAGGAT	0.602													A	36874469	G	A	36874469	2	1	704	1	0	0	0	0	0	0	0	1	8315	1049	37	1		1	KIAA1755	20	36874469	Silent	SNP	G	TCGA-S9-A6U8-01A-21D-A33T-08		36874469	26151051	22	54303											
ATRX	546	broad.mit.edu	37	chrX	76813106	76813106	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgatcataaatcttatctTccatggttccctttgtaaaa	11	15	5	10	1	3	0	1	0	2	0	5	1	5	0	3	1	0	2	3	1	5	6			TCGA-S9-A6U8-01A-21D-A33T-08	TCGA-S9-A6U8-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4922ebd-a1dd-4055-bfb2-b2307252c666	173c8320-f449-4c23-ad2d-089f1e14323a	g.chrX:76813106T>C	ENST00000373344.5	-	30	6729	c.6515A>G	c.(6514-6516)gAa>gGa	p.E2172G	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.E2134G	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2172	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)	AATCTTATCTTCCATGGTTCC	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76813106	T	C	76813106	3	2	704	1	0	0	0	0	1	0	0	0	1213	1783	62	3	987	3	ATRX	23	76813106	Missense_Mutation	SNP	T	TCGA-S9-A6U8-01A-21D-A33T-08		76813106	78457454	23	54304											
MAN1C1	57134	broad.mit.edu	37	chr1	26104708	26104708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctggcctgtttctccggggGcatgatcgcccttggcgccg	2	10	14	15	4	1	1	0	1	1	0	3	1	1	1	5	4	0	2	5	4	0	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:26104708G>A	ENST00000374332.4	+	9	1700	c.1370G>A	c.(1369-1371)gGc>gAc	p.G457D	MAN1C1_ENST00000263979.3_Missense_Mutation_p.G277D|MAN1C1_ENST00000374329.1_Missense_Mutation_p.G228D	NM_020379.2	NP_065112.1	Q9NR34	MA1C1_HUMAN	mannosidase, alpha, class 1C, member 1	457					post-translational protein modification|protein N-linked glycosylation via asparagine	integral to Golgi membrane	calcium ion binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(7)|pancreas(1)|prostate(1)|skin(2)	25		Colorectal(325;3.78e-05)|Lung NSC(340;0.000181)|all_lung(284;0.000245)|Renal(390;0.000714)|Ovarian(437;0.00159)|Breast(348;0.0156)|Myeloproliferative disorder(586;0.0257)|all_neural(195;0.0515)|Esophageal squamous(538;0.232)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0574)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.15e-07)|COAD - Colon adenocarcinoma(152;4.31e-06)|STAD - Stomach adenocarcinoma(196;0.00125)|BRCA - Breast invasive adenocarcinoma(304;0.00141)|KIRC - Kidney renal clear cell carcinoma(1967;0.00146)|GBM - Glioblastoma multiforme(114;0.0149)|READ - Rectum adenocarcinoma(331;0.0803)		TTCTCCGGGGGCATGATCGCC	0.612													A	26104708	G	A	26104708	3	1	705	1	0	0	0	0	1	0	0	0	9288	1203	42	2	1404	2	MAN1C1	1	26104708	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		26104708	223145913	1	54305											
LRP8	7804	broad.mit.edu	37	chr1	53736990	53736990	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagatgtgtgagcagccGccattgttgtgcagacactc	8	10	13	10	1	0	3	0	1	0	2	1	3	0	3	2	0	4	4	2	0	0	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr1:53736990G>A	ENST00000306052.6	-	7	1136	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G	LRP8_ENST00000465675.1_5'UTR|LRP8_ENST00000347547.2_Silent_p.G175G|LRP8_ENST00000354412.3_Silent_p.G216G|LRP8_ENST00000371454.2_Silent_p.G345G	NM_004631.4	NP_004622.2	Q14114	LRP8_HUMAN	low density lipoprotein receptor-related protein 8, apolipoprotein e receptor	345	EGF-like 1.				cytokine-mediated signaling pathway|endocytosis|lipid metabolic process|platelet activation|proteolysis	caveola	calcium ion binding|very-low-density lipoprotein particle receptor activity			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(1)	21						GTGAGCAGCCGCCATTGTTGT	0.612													A	53736990	G	A	53736990	2	1	705	1	0	0	0	0	0	0	0	1	9033	1074	38	1		1	LRP8	1	53736990	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	27632282	53736990	195513631	2	54306											
SLC9A4	389015	broad.mit.edu	37	chr2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctaaagagattctgatcCgccgccagaacaccttaagg	13	7	10	11	2	1	3	0	1	1	2	2	4	2	3	4	2	1	1	4	2	4	3			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502													T	103141552	C	T	103141552	3	4	705	1	0	0	0	0	1	0	0	0	14810	652	23	1	1926	1	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		103141552	140057821	3	54307											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	705	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	105971561	209113113	34086260	4	54308											
WNT7A	7476	broad.mit.edu	37	chr3	13896294	13896294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtaggtgaacgcagcctccCggctccctgcgaggaggaga	8	5	15	13	4	0	2	0	1	0	1	2	5	2	3	3	4	3	3	3	4	2	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:13896294C>T	ENST00000285018.4	-	3	609	c.305G>A	c.(304-306)cGg>cAg	p.R102Q		NM_004625.3	NP_004616.2	O00755	WNT7A_HUMAN	wingless-type MMTV integration site family, member 7A	102					activation of JUN kinase activity|anterior/posterior pattern formation|canonical Wnt receptor signaling pathway|cell proliferation in forebrain|cellular response to transforming growth factor beta stimulus|central nervous system vasculogenesis|cerebellar granule cell differentiation|dorsal/ventral pattern formation|embryonic axis specification|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic leg morphogenesis|lens fiber cell development|negative regulation of neurogenesis|palate development|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of epithelial cell proliferation involved in wound healing|positive regulation of JNK cascade|positive regulation of synaptogenesis|positive regulation of transcription from RNA polymerase II promoter|regulation of axon diameter|satellite cell activation|satellite cell maintenance involved in skeletal muscle regeneration|sex differentiation|uterus development|Wnt receptor signaling pathway involved in wound healing, spreading of epidermal cells|Wnt receptor signaling pathway, calcium modulating pathway	extracellular space|plasma membrane|proteinaceous extracellular matrix	cytokine activity|frizzled binding|receptor agonist activity|signal transducer activity			NS(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	24						CGCAGCCTCCCGGCTCCCTGC	0.622													T	13896294	C	T	13896294	3	4	705	1	0	0	0	0	1	0	0	0	17496	652	23	1	752	1	WNT7A	3	13896294	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		13896294	184126136	5	54309											
ITIH1	3697	broad.mit.edu	37	chr3	52822010	52822010	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctcccatcagcgttcgtgCtgtcagccttgcagccttct	4	12	8	17	2	3	0	2	0	1	0	5	0	4	0	4	0	5	3	4	0	0	3			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr3:52822010C>T	ENST00000273283.2	+	17	1957	c.1933C>T	c.(1933-1935)Ctg>Ttg	p.L645L	ITIH1_ENST00000542827.1_Intron|ITIH1_ENST00000540715.1_Silent_p.L503L|ITIH1_ENST00000537050.1_Silent_p.L357L|ITIH1_ENST00000405128.3_Silent_p.L11L	NM_002215.3	NP_002206.2	P19827	ITIH1_HUMAN	inter-alpha-trypsin inhibitor heavy chain 1	645	Hyaluronan-binding.				hyaluronan metabolic process|leukocyte activation	extracellular region	calcium ion binding|serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(16)|lung(18)|ovary(4)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	52				BRCA - Breast invasive adenocarcinoma(193;7.04e-05)|Kidney(197;0.000659)|KIRC - Kidney renal clear cell carcinoma(197;0.000795)|OV - Ovarian serous cystadenocarcinoma(275;0.0498)		AGCGTTCGTGCTGTCAGCCTT	0.607													T	52822010	C	T	52822010	2	4	705	1	0	0	0	0	0	0	0	1	7961	796	28	2		2	ITIH1	3	52822010	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	38925716	52822010	145200420	6	54310											
DCUN1D4	23142	broad.mit.edu	37	chr4	52777312	52777312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attaggaaaaatctggccccTttttccagtttttcaccaat	11	15	5	10	0	2	0	1	0	1	0	3	1	3	1	4	2	0	1	4	2	4	5			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:52777312T>C	ENST00000334635.5	+	9	872	c.692T>C	c.(691-693)cTt>cCt	p.L231P	DCUN1D4_ENST00000381441.3_Intron|DCUN1D4_ENST00000381437.4_Missense_Mutation_p.L171P|DCUN1D4_ENST00000451288.2_Missense_Mutation_p.L275P	NM_001040402.1	NP_001035492.1	Q92564	DCNL4_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 4	231	DCUN1.									endometrium(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)	9			GBM - Glioblastoma multiforme(4;1.93e-11)|LUSC - Lung squamous cell carcinoma(32;0.00654)			ATCTGGCCCCTTTTTCCAGTT	0.383													C	52777312	T	C	52777312	3	2	705	1	0	0	0	0	1	0	0	0	4350	1609	56	3	726	3	DCUN1D4	4	52777312	Missense_Mutation	SNP	T	TCGA-S9-A6U9-01A-11D-A32B-08		52777312	138376964	7	54311											
ANXA10	11199	broad.mit.edu	37	chr4	169100462	169100462	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggagctgctggttgcaatTggtaagtaataaattatttg	12	14	11	4	0	0	0	0	0	0	0	0	1	0	1	0	3	3	6	0	3	6	7			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr4:169100462T>C	ENST00000359299.3	+	9	909	c.723T>C	c.(721-723)atT>atC	p.I241I		NM_007193.4	NP_009124.2	Q9UJ72	ANX10_HUMAN	annexin A10	241							calcium ion binding|calcium-dependent phospholipid binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(2)	16		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0325)		TGGTTGCAATTGGTAAGTAAT	0.338													C	169100462	T	C	169100462	5	2	705	1	0	0	0	0	0	0	1	0	715	1826	63	3	757	3	ANXA10	4	169100462	Splice_Site	SNP	T	TCGA-S9-A6U9-01A-11D-A32B-08	116323150	169100462	22053814	8	54312											
YIPF3	25844	broad.mit.edu	37	chr6	43480227	43480227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatagagcaggaagagcatGtgtagggcagccagggtgcc	12	5	17	7	0	0	3	0	0	0	3	0	4	0	4	2	3	4	4	2	3	3	2	rs147670761	by1000genomes	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:43480227G>A	ENST00000372422.2	-	8	1037	c.855C>T	c.(853-855)caC>caT	p.H285H	YIPF3_ENST00000506469.1_Silent_p.H291H	NM_015388.3	NP_056203.2	Q9GZM5	YIPF3_HUMAN	Yip1 domain family, member 3	285					cell differentiation	integral to membrane|plasma membrane|transport vesicle				large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)	9	all_cancers(18;3.79e-05)|Lung NSC(15;0.00217)|all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00736)|OV - Ovarian serous cystadenocarcinoma(102;0.0711)			GGAAGAGCATGTGTAGGGCAG	0.567													A	43480227	G	A	43480227	2	1	705	1	0	0	0	0	0	0	0	1	17581	1368	48	2		2	YIPF3	6	43480227	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		43480227	127634840	9	54313											
PKHD1	5314	broad.mit.edu	37	chr6	51484035	51484035	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcctctcttgtctgaaGtctgggcatagcagcagcag	7	11	12	11	0	3	1	0	1	3	0	4	1	3	1	1	1	5	5	1	1	2	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:51484035G>A	ENST00000371117.3	-	67	12344	c.12069C>T	c.(12067-12069)gaC>gaT	p.D4023D	RP3-335N17.2_ENST00000589278.2_RNA|RP3-335N17.2_ENST00000454361.1_RNA	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	4023					cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					CTTGTCTGAAGTCTGGGCATA	0.567													A	51484035	G	A	51484035	2	1	705	1	0	0	0	0	0	0	0	1	12048	1020	36	2		2	PKHD1	6	51484035	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	8003808	51484035	119631032	10	54314											
PHF3	23469	broad.mit.edu	37	chr6	64408211	64408211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaagccttctgcagatcagAtcaggcaaagtgtcagacat	13	8	9	11	0	4	3	3	0	1	3	4	3	4	3	2	1	2	2	2	1	2	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:64408211A>G	ENST00000262043.3	+	7	3119	c.2779A>G	c.(2779-2781)Atc>Gtc	p.I927V	PHF3_ENST00000393387.1_Missense_Mutation_p.I927V			Q92576	PHF3_HUMAN	PHD finger protein 3	927	TFIIS central.				multicellular organismal development|transcription, DNA-dependent	nucleus	zinc ion binding			breast(7)|cervix(2)|endometrium(8)|kidney(7)|large_intestine(18)|lung(21)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(6)	75	all_cancers(3;0.0241)|all_epithelial(2;0.00306)|Lung NSC(77;0.121)		LUSC - Lung squamous cell carcinoma(74;0.0644)|Lung(124;0.148)			TGCAGATCAGATCAGGCAAAG	0.343													G	64408211	A	G	64408211	3	3	705	1	0	0	0	0	1	0	0	0	11913	333	12	3	2801	3	PHF3	6	64408211	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	12924176	64408211	106706856	11	54315											
VGLL2	245806	broad.mit.edu	37	chr6	117591791	117591791	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgcccccgccgctgggCagccctctggccaccgcgca	4	4	12	21	4	1	0	0	0	1	0	1	0	1	0	7	2	2	3	7	2	0	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:117591791C>T	ENST00000326274.5	+	3	667	c.477C>T	c.(475-477)ggC>ggT	p.G159G	VGLL2_ENST00000352536.3_Intron	NM_182645.3	NP_872586.1	Q8N8G2	VGLL2_HUMAN	vestigial like 2 (Drosophila)	159					transcription, DNA-dependent	nucleus				central_nervous_system(1)|kidney(1)|lung(3)	5				GBM - Glioblastoma multiforme(226;0.0254)|all cancers(137;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.0757)		CGCCGCTGGGCAGCCCTCTGG	0.741													T	117591791	C	T	117591791	2	4	705	1	0	0	0	0	0	0	0	1	17261	697	25	2		2	VGLL2	6	117591791	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	53183580	117591791	53523276	12	54316											
SNX9	51429	broad.mit.edu	37	chr6	158357011	158357011	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaggtgaaacagatctcaAtgatgcaataacagaagcag	17	8	9	7	0	2	4	2	2	1	2	3	4	2	4	0	1	4	2	0	1	5	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:158357011A>G	ENST00000392185.3	+	14	1553	c.1382A>G	c.(1381-1383)aAt>aGt	p.N461S		NM_016224.3	NP_057308.1	Q9Y5X1	SNX9_HUMAN	sorting nexin 9	461	BAR.				cell communication|intracellular protein transport|lipid tube assembly|positive regulation of GTPase activity|positive regulation of protein oligomerization|receptor-mediated endocytosis	clathrin-coated vesicle|cytoplasmic vesicle membrane|extrinsic to internal side of plasma membrane|ruffle|trans-Golgi network	1-phosphatidylinositol binding|protein homodimerization activity|ubiquitin protein ligase binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	20		Breast(66;0.000776)|Ovarian(120;0.0303)|Prostate(117;0.167)		OV - Ovarian serous cystadenocarcinoma(65;8.06e-18)|BRCA - Breast invasive adenocarcinoma(81;4.48e-05)		ACAGATCTCAATGATGCAATA	0.303													G	158357011	A	G	158357011	3	3	705	1	0	0	0	0	1	0	0	0	15003	101	4	3	1436	3	SNX9	6	158357011	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	40765220	158357011	12758056	13	54317											
TCP10	6953	broad.mit.edu	37	chr6	167796320	167796320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctccccggcattgctGtcctccctggggacctcggc	3	9	12	17	2	1	0	0	0	1	0	5	1	3	1	5	5	1	3	5	5	0	1			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr6:167796320G>A	ENST00000366827.2	-	2	253	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000476779.2_Silent_p.D14D|TCP10_ENST00000397829.4_Silent_p.D14D			Q12799	TCP10_HUMAN	t-complex 10	41						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													A	167796320	G	A	167796320	2	1	705	1	0	0	0	0	0	0	0	1	15810	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	9439309	167796320	3318747	14	54318											
TNRC18	84629	broad.mit.edu	37	chr7	5402311	5402311	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttgcgcatccagctgtaCttcttgttgggcttcagctc	4	16	9	12	1	3	0	1	0	2	0	5	0	4	0	1	1	4	6	1	1	1	7			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr7:5402311C>G	ENST00000399537.4	-	12	4713	c.4365G>C	c.(4363-4365)aaG>aaC	p.K1455N	TNRC18_ENST00000430969.1_Missense_Mutation_p.K1455N			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	1455							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		TCCAGCTGTACTTCTTGTTGG	0.677													G	5402311	C	G	5402311	3	3	705	1	0	0	0	0	1	0	0	0	16439	564	20	4	4617	4	TNRC18	7	5402311	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		5402311	153736352	15	54319											
CSPP1	79848	broad.mit.edu	37	chr8	68074125	68074125	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaagacctccttcagttgAcagcatcatacgttccttta	11	12	5	13	1	2	2	2	1	0	1	4	2	4	2	4	0	2	3	4	0	3	6			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:68074125A>G	ENST00000262210.5	+	20	2634	c.2603A>G	c.(2602-2604)gAc>gGc	p.D868G	CSPP1_ENST00000412460.1_Missense_Mutation_p.D523G|CSPP1_ENST00000521168.1_3'UTR	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	903						centrosome|microtubule|spindle				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CCTTCAGTTGACAGCATCATA	0.343													G	68074125	A	G	68074125	3	3	705	1	0	0	0	0	1	0	0	0	3995	275	10	3	2794	3	CSPP1	8	68074125	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08		68074125	78289897	16	54320											
SNX31	169166	broad.mit.edu	37	chr8	101612660	101612660	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggcccatcctttttcaatgtCctgtattgccttaaaataac	10	15	5	11	0	1	0	1	0	0	0	3	0	3	0	4	1	2	1	4	1	5	6			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr8:101612660C>T	ENST00000311812.2	-	9	841	c.691G>A	c.(691-693)Gac>Aac	p.D231N	SNX31_ENST00000428383.2_Missense_Mutation_p.D132N	NM_152628.3	NP_689841.3	Q8N9S9	SNX31_HUMAN	sorting nexin 31	231					cell communication|protein transport		phosphatidylinositol binding			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(12)|prostate(1)|skin(3)|urinary_tract(1)	26	all_cancers(14;4.01e-05)|all_epithelial(15;1.26e-07)|Lung NSC(17;0.000453)|all_lung(17;0.00125)		Epithelial(11;1.21e-11)|all cancers(13;2.62e-09)|OV - Ovarian serous cystadenocarcinoma(57;3.22e-06)|STAD - Stomach adenocarcinoma(118;0.206)			TTTTCAATGTCCTGTATTGCC	0.348													T	101612660	C	T	101612660	3	4	705	1	0	0	0	0	1	0	0	0	14995	855	30	2	655	2	SNX31	8	101612660	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	33538535	101612660	44751362	17	54321											
DLG5	9231	broad.mit.edu	37	chr10	79685993	79685993	+	Frame_Shift_Del	DEL	G	G	-																															acccgcgccttcggcgggctGcggcggcccgacgacgccgt																										TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:79685993delG	ENST00000372391.2	-	1	291	c.286delC	c.(286-288)cagfs	p.Q96fs	DLG5_ENST00000372388.2_Frame_Shift_Del_p.Q96fs	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	96					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TCGGCGGGCTGCGGCGGCCCG	0.726													-	79685993	G	-	79685993	7	5	705	1	0	1	0	1	0	0	0	0	4597	1328	46	0	5601	0	DLG5	10	79685993	Frame_Shift_Del	DEL	G	TCGA-S9-A6U9-01A-11D-A32B-08		79685993	55848754	18	54322											
VWA2	340706	broad.mit.edu	37	chr10	116038488	116038488	+	Silent	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gtggacacagactgcagggtCgaggctcacccctgtgagca	9	6	14	12	1	1	2	1	1	0	1	2	4	1	3	2	3	2	3	2	3	0	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr10:116038488C>G	ENST00000603594.1	+	8	1032	c.711C>G	c.(709-711)gtC>gtG	p.V237V	VWA2_ENST00000392982.3_Silent_p.V237V	NM_001272046.1	NP_001258975.1	Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	237						extracellular region				central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		ACTGCAGGGTCGAGGCTCACC	0.657													G	116038488	C	G	116038488	2	3	705	1	0	0	0	0	0	0	0	1	17341	871	31	4		4	VWA2	10	116038488	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	36352495	116038488	19496259	19	54323											
OR5AP2	338675	broad.mit.edu	37	chr11	56409457	56409457	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacaacctgctaagaaggaGgtagctattagcaaaaagca	17	6	9	9	0	0	1	0	0	0	1	0	2	0	2	2	2	5	5	2	2	8	4			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:56409457G>C	ENST00000544374.1	-	1	490	c.462C>G	c.(460-462)acC>acG	p.T154T	OR5AP2_ENST00000302981.1_Silent_p.T153T			Q8NGF4	O5AP2_HUMAN	olfactory receptor, family 5, subfamily AP, member 2	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	29						CTAAGAAGGAGGTAGCTATTA	0.453													C	56409457	G	C	56409457	2	2	705	1	0	0	0	0	0	0	0	1	11220	987	35	4		4	OR5AP2	11	56409457	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		56409457	78597059	20	54324											
SF3B2	10992	broad.mit.edu	37	chr11	65829467	65829467	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctgaactcgcccatccctGaggtgagcattgtcctttcg	6	11	11	13	2	0	3	0	3	0	0	4	3	2	3	3	2	2	2	3	2	1	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:65829467G>C	ENST00000528302.1	+	15	1978	c.1924G>C	c.(1924-1926)Gag>Cag	p.E642Q	SF3B2_ENST00000322535.6_Missense_Mutation_p.E659Q			Q13435	SF3B2_HUMAN	splicing factor 3b, subunit 2, 145kDa	659					interspecies interaction between organisms	catalytic step 2 spliceosome|nucleoplasm|U12-type spliceosomal complex	nucleic acid binding|protein binding			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	41						GCCCATCCCTGAGGTGAGCAT	0.498													C	65829467	G	C	65829467	3	2	705	1	0	0	0	0	1	0	0	0	14244	1291	45	4	2037	4	SF3B2	11	65829467	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	9420010	65829467	69177049	21	54325											
SIK2	23235	broad.mit.edu	37	chr11	111594198	111594221	+	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCCTTTGATATTACCAATTTAGGC	-																															tgagaagatttaaaattcttTcctttgatattaccaattta																										TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr11:111594198_111594221delTCCTTTGATATTACCAATTTAGGC	ENST00000304987.3	+	15	2320_2322	c.2147_2149delTCCTTTGATATTACCAATTTAGGC	c.(2146-2151)atcctt>att	p.L717del		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	717					intracellular protein kinase cascade|regulation of insulin receptor signaling pathway	Golgi apparatus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TAAAATTCTTTCCTTTGATATTACCAATTTAGGCTCCAGCAGAA	0.402													-	111594221	TCCTTTGATATTACCAATTTAGGC	-	111594198	8	5	705	1	0	1	0	1	0	0	1	0	14412	1798	62	0		0	SIK2	11	111594198	Splice_Site	DEL	TCCTTTGATATTACCAATTTAGGC	TCGA-S9-A6U9-01A-11D-A32B-08	45764731	111594198	23412318	22	54326											
ATN1	1822	broad.mit.edu	37	chr12	7045239	7045239	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctctggggctagtggtgCtcccccaacaaagccgccta	9	7	11	14	1	1	0	0	0	1	0	2	0	2	0	4	3	4	3	4	3	5	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:7045239C>G	ENST00000356654.4	+	5	1046	c.809C>G	c.(808-810)gCt>gGt	p.A270G	ATN1_ENST00000396684.2_Missense_Mutation_p.A270G	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	270					cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						GCTAGTGGTGCTCCCCCAACA	0.627													G	7045239	C	G	7045239	3	3	705	1	0	0	0	0	1	0	0	0	1116	797	28	4	823	4	ATN1	12	7045239	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		7045239	126806656	23	54327											
STAC3	246329	broad.mit.edu	37	chr12	57642553	57642553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttcatggatgttggttttgCagttcttacagcgaagccca	8	14	11	8	1	2	0	1	0	1	0	2	2	2	1	1	2	4	5	1	2	2	6			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr12:57642553C>T	ENST00000332782.2	-	4	569	c.368G>A	c.(367-369)tGc>tAc	p.C123Y	STAC3_ENST00000554578.1_Missense_Mutation_p.C84Y|STAC3_ENST00000546246.2_Intron	NM_145064.1	NP_659501.1	Q96MF2	STAC3_HUMAN	SH3 and cysteine rich domain 3	123					intracellular signal transduction		identical protein binding|metal ion binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(2)|skin(1)	18						GTTGGTTTTGCAGTTCTTACA	0.488													T	57642553	C	T	57642553	3	4	705	1	0	0	0	0	1	0	0	0	15337	710	25	2	762	2	STAC3	12	57642553	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	50597314	57642553	76209342	24	54328											
DHRS4L1	728635	broad.mit.edu	37	chr14	24511654	24511656	+	RNA	DEL	TTG	TTG	-																															tagttcctaagaaggaagatTtgttgttgttgttgttgtca																										TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:24511654_24511656delTTG	ENST00000558293.1	+	0	437					NR_102693.1																						GAAGGAAGATttgttgttgttgt	0.365													-	24511656	TTG	-	24511654	6	5	705	0	1	1	0	1	0	0	0	0	4532	1856	64	0		0	DHRS4L1	14	24511654	RNA	DEL	TTG	TCGA-S9-A6U9-01A-11D-A32B-08		24511654	82837886	25	54329											
NRXN3	9369	broad.mit.edu	37	chr14	79433549	79433549	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttttttttttttcttcctAggtatatacactacgttttt	6	26	3	6	1	1	0	0	0	1	0	2	0	2	0	1	1	2	2	1	1	5	15			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:79433549A>G	ENST00000554719.1	+	10	2149		c.e10-1		NRXN3_ENST00000335750.5_Splice_Site	NM_004796.4	NP_004787.2	Q9HDB5	NRX3B_HUMAN	neurexin 3						angiogenesis|cell adhesion	integral to membrane				NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(23)|lung(40)|ovary(3)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(9)|urinary_tract(1)	104		Renal(4;0.00876)		BRCA - Breast invasive adenocarcinoma(234;0.00544)|Kidney(3;0.029)|KIRC - Kidney renal clear cell carcinoma(182;0.223)		TTTTCTTCCTAGGTATATACA	0.423													G	79433549	A	G	79433549	5	3	705	1	0	0	0	0	0	0	1	0	10743	434	15	3	1687	3	NRXN3	14	79433549	Splice_Site	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	54921895	79433549	27915991	26	54330											
BTBD7	55727	broad.mit.edu	37	chr14	93730194	93730194	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagttcataaaaaacatcCgaagtcatgacctgggaaaa	17	8	8	8	1	2	2	2	2	0	0	3	4	3	3	2	1	1	1	2	1	6	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr14:93730194C>T	ENST00000334746.5	-	4	1615	c.1308G>A	c.(1306-1308)tcG>tcA	p.S436S	BTBD7_ENST00000554565.1_Silent_p.S85S|BTBD7_ENST00000393170.2_Intron	NM_001002860.2	NP_001002860.2	Q9P203	BTBD7_HUMAN	BTB (POZ) domain containing 7	436										breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|skin(8)|upper_aerodigestive_tract(1)	35		all_cancers(154;0.08)		Epithelial(152;0.196)|COAD - Colon adenocarcinoma(157;0.212)|all cancers(159;0.223)		AAAAAACATCCGAAGTCATGA	0.423													T	93730194	C	T	93730194	2	4	705	1	0	0	0	0	0	0	0	1	1556	639	23	1		1	BTBD7	14	93730194	Silent	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08	14296645	93730194	13619346	27	54331											
TP53	7157	broad.mit.edu	37	chr17	7577547	7577547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggatgggcctccggttcatgCcgcccatgcaggaactgtta	7	9	13	12	2	1	0	1	0	0	0	2	2	2	2	4	4	3	3	4	4	2	2	rs121912656		TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:7577547C>A	ENST00000420246.2	-	7	866	c.734G>T	c.(733-735)gGc>gTc	p.G245V	TP53_ENST00000455263.2_Missense_Mutation_p.G245V|TP53_ENST00000269305.4_Missense_Mutation_p.G245V|TP53_ENST00000445888.2_Missense_Mutation_p.G245V|TP53_ENST00000413465.2_Missense_Mutation_p.G245V|TP53_ENST00000359597.4_Missense_Mutation_p.G245V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245D(104)|p.G245V(66)|p.G245A(8)|p.0?(8)|p.?(5)|p.G152V(4)|p.G244_M246>V(3)|p.G152D(3)|p.G245N(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.G245E(1)|p.C242_M246>L(1)|p.G245fs*2(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.C238_M246delCNSSCMGGM(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CCGGTTCATGCCGCCCATGCA	0.582		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)			A	7577547	C	A	7577547	3	1	705	1	0	0	0	0	1	0	0	0	16482	739	26	4	556	4	TP53	17	7577547	Missense_Mutation	SNP	C	TCGA-S9-A6U9-01A-11D-A32B-08		7577547	73617663	28	54332											
MARCH10	162333	broad.mit.edu	37	chr17	60802387	60802387	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagccgcaaggctccaggagGgggttgcttggggaaccccc	7	5	16	13	1	0	0	0	0	0	0	1	2	1	2	4	6	3	4	4	6	2	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr17:60802387G>A	ENST00000544856.2	-	8	2391	c.2013C>T	c.(2011-2013)ccC>ccT	p.P671P	MARCH10_ENST00000583600.1_Silent_p.P710P|MARCH10_ENST00000311269.5_Silent_p.P672P|RP11-156L14.1_ENST00000577270.1_RNA|RP11-156L14.1_ENST00000584597.1_RNA|RP11-156L14.1_ENST00000579201.1_RNA|RP11-156L14.1_ENST00000582564.1_RNA|MARCH10_ENST00000456609.2_Silent_p.P672P			Q8NA82	MARHA_HUMAN	membrane-associated ring finger (C3HC4) 10, E3 ubiquitin protein ligase	672							ligase activity|zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|liver(1)|lung(15)	38						GCTCCAGGAGGGGGTTGCTTG	0.537													A	60802387	G	A	60802387	2	1	705	1	0	0	0	0	0	0	0	1	9374	1219	43	2		2	MARCH10	17	60802387	Silent	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08	53224840	60802387	20392823	29	54333											
GATA6	2627	broad.mit.edu	37	chr18	19751274	19751274	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagcggggccccggcggcGccagcaactgcgggacgcct	6	2	18	15	6	0	1	0	0	0	1	0	3	0	2	4	5	4	1	4	5	1	0			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr18:19751274G>A	ENST00000269216.3	+	2	446	c.169G>A	c.(169-171)Gcc>Acc	p.A57T	GATA6_ENST00000581694.1_Missense_Mutation_p.A57T	NM_005257.4	NP_005248.2	Q92908	GATA6_HUMAN	GATA binding protein 6	57					blood coagulation|cardiac vascular smooth muscle cell differentiation|cellular response to hypoxia|intestinal epithelial cell differentiation|male gonad development|negative regulation of apoptosis|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor-beta1 production|negative regulation of transforming growth factor-beta2 production|outflow tract septum morphogenesis|positive regulation of angiogenesis|positive regulation of cell cycle arrest|positive regulation of transcription from RNA polymerase II promoter|response to drug|response to growth factor stimulus		protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding			NS(1)|central_nervous_system(3)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|skin(1)	18	all_cancers(21;0.00271)|all_epithelial(16;7.31e-05)|Ovarian(2;0.116)|Lung NSC(20;0.123)|all_lung(20;0.246)		STAD - Stomach adenocarcinoma(5;0.106)			CCCCGGCGGCGCCAGCAACTG	0.741													A	19751274	G	A	19751274	3	1	705	1	0	0	0	0	1	0	0	0	6312	1087	38	1	171	1	GATA6	18	19751274	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		19751274	58325974	30	54334											
MUC16	94025	broad.mit.edu	37	chr19	9048095	9048095	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gggtgaccaatgaagttgtgGtctctggttcatcagaagaa	11	11	13	6	0	3	4	2	2	1	2	4	4	3	4	1	3	0	2	1	3	4	2	rs72486386	by1000genomes	TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr19:9048095G>T	ENST00000397910.4	-	5	33739	c.33536C>A	c.(33535-33537)aCc>aAc	p.T11179N		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11181	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding			NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGAAGTTGTGGTCTCTGGTTC	0.468													T	9048095	G	T	9048095	3	4	705	1	0	0	0	0	1	0	0	0	10049	1261	44	4	10307	4	MUC16	19	9048095	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		9048095	50080888	31	54335											
C20orf26	26074	broad.mit.edu	37	chr20	20269322	20269322	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctcaatgatgcatgtcttGtgtatgacagtcgacttgtg	8	14	10	9	1	2	2	1	2	1	0	3	3	2	2	1	0	1	2	1	0	2	3			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:20269322G>T	ENST00000245957.5	+	23	2942	c.2866G>T	c.(2866-2868)Gtg>Ttg	p.V956L	C20orf26_ENST00000377309.2_Intron	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	956										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		TGCATGTCTTGTGTATGACAG	0.418													T	20269322	G	T	20269322	3	4	705	1	0	0	0	0	1	0	0	0	2127	1377	48	4	2984	4	C20orf26	20	20269322	Missense_Mutation	SNP	G	TCGA-S9-A6U9-01A-11D-A32B-08		20269322	42756198	32	54336											
RBM12	10137	broad.mit.edu	37	chr20	34240878	34240878	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggccatttccaaaattctgAgggccccctccaaatcccga	10	8	8	15	1	1	1	0	1	1	0	4	2	4	1	6	2	0	0	6	2	3	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chr20:34240878A>G	ENST00000374114.3	-	3	2630	c.2367T>C	c.(2365-2367)ccT>ccC	p.P789P	CPNE1_ENST00000317677.5_Intron|CPNE1_ENST00000397442.1_Intron|CPNE1_ENST00000352393.4_Intron|RP1-309K20.6_ENST00000541176.2_Intron|CPNE1_ENST00000397445.1_Intron|RBM12_ENST00000359646.1_Silent_p.P789P|CPNE1_ENST00000397443.1_Intron|RBM12_ENST00000374104.3_Silent_p.P789P|CPNE1_ENST00000317619.3_Intron|CPNE1_ENST00000397446.1_Intron	NM_001198838.1|NM_001198840.1|NM_006047.5	NP_001185767.1|NP_001185769.1|NP_006038.2	Q9NTZ6	RBM12_HUMAN	RNA binding motif protein 12	789	Gly-rich.|Pro-rich.					nucleus	nucleotide binding|protein binding|RNA binding			breast(3)|endometrium(7)|kidney(1)|large_intestine(3)|lung(14)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36	Lung NSC(9;0.00608)|all_lung(11;0.00918)		BRCA - Breast invasive adenocarcinoma(18;0.00953)			CAAAATTCTGAGGGCCCCCTC	0.572													G	34240878	A	G	34240878	2	3	705	1	0	0	0	0	0	0	0	1	13201	291	11	3		3	RBM12	20	34240878	Silent	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	13971556	34240878	28784642	33	54337											
TCEANC	170082	broad.mit.edu	37	chrX	13681313	13681313	+	Frame_Shift_Del	DEL	C	C	-																															ttgcatcagaagcaaagttgCcaatttgaagaaccccagaa																										TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:13681313delC	ENST00000380600.1	+	2	773	c.686delC	c.(685-687)gccfs	p.A229fs	TCEANC_ENST00000490617.1_3'UTR|TCEANC_ENST00000544987.1_Frame_Shift_Del_p.A229fs|TCEANC_ENST00000314720.4_Frame_Shift_Del_p.A259fs|TCEANC_ENST00000545566.1_Frame_Shift_Del_p.A229fs			Q8N8B7	TEANC_HUMAN	transcription elongation factor A (SII) N-terminal and central domain containing	229	TFIIS central.				regulation of transcription elongation, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|large_intestine(5)|lung(2)|pancreas(1)	9						AGCAAAGTTGCCAATTTGAAG	0.373													-	13681313	C	-	13681313	7	5	705	1	0	1	0	1	0	0	0	0	15778	739	26	0	782	0	TCEANC	23	13681313	Frame_Shift_Del	DEL	C	TCGA-S9-A6U9-01A-11D-A32B-08		13681313	141589247	34	54338											
ATRX	546	broad.mit.edu	37	chrX	76909645	76909646	+	Frame_Shift_Del	DEL	TT	TT	-																															cgtcgccttttctttttctgTttatagctccgctgattttc																										TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:76909645_76909646delTT	ENST00000373344.5	-	14	4473_4474	c.4259_4260delAA	c.(4258-4260)aaafs	p.K1420fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1382fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1420					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)	TCTTTTTCTGTTTATAGCTCCG	0.322			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76909646	TT	-	76909645	7	5	705	1	0	1	0	1	0	0	0	0	1213	1722	60	0	3306	0	ATRX	23	76909645	Frame_Shift_Del	DEL	TT	TCGA-S9-A6U9-01A-11D-A32B-08	63228332	76909645	78360915	35	54339											
IL13RA1	3597	broad.mit.edu	37	chrX	117875042	117875042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctgcacagtaatatggAcatggaatccacccgaggga	13	7	10	11	1	1	0	0	0	1	0	2	4	2	3	3	3	1	2	3	3	3	2			TCGA-S9-A6U9-01A-11D-A32B-08	TCGA-S9-A6U9-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f3b7b1a9-6595-49c9-a355-1429cff9701f	8e7599d0-823a-472b-8d6c-38730ad5fd1a	g.chrX:117875042A>G	ENST00000371666.3	+	2	218	c.151A>G	c.(151-153)Aca>Gca	p.T51A	IL13RA1_ENST00000371642.1_Missense_Mutation_p.T51A	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	51						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						AGTAATATGGACATGGAATCC	0.378													G	117875042	A	G	117875042	3	3	705	1	0	0	0	0	1	0	0	0	7687	275	10	3	157	3	IL13RA1	23	117875042	Missense_Mutation	SNP	A	TCGA-S9-A6U9-01A-11D-A32B-08	40965397	117875042	37395518	36	54340											
PEX10	5192	broad.mit.edu	37	chr1	2343881	2343881	+	Frame_Shift_Del	DEL	A	A	-																															gctccgcagcccaccgcggtAgtactcgtccttctgcgccg																										TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:2343881delA	ENST00000288774.3	-	1	88	c.61delT	c.(61-63)tacfs	p.Y21fs	PEX10_ENST00000447513.2_Frame_Shift_Del_p.Y21fs|PEX10_ENST00000507596.1_Frame_Shift_Del_p.Y21fs	NM_153818.1	NP_722540.1	O60683	PEX10_HUMAN	peroxisomal biogenesis factor 10	21					protein import into peroxisome matrix	integral to peroxisomal membrane|peroxisomal membrane	protein binding|protein C-terminus binding|zinc ion binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|skin(2)	7	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.1e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.02e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00102)|BRCA - Breast invasive adenocarcinoma(365;0.00435)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0169)|Lung(427;0.199)		CCACCGCGGTAGTACTCGTCC	0.801													-	2343881	A	-	2343881	7	5	706	1	0	1	0	1	0	0	0	0	11813	420	15	0	1003	0	PEX10	1	2343881	Frame_Shift_Del	DEL	A	TCGA-S9-A6UA-01A-12D-A33T-08		2343881	246906740	1	54341											
ESPN	83715	broad.mit.edu	37	chr1	6504600	6504600	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagctggaggctaagcagccGgattcaggcatgtcctcacc	9	7	13	12	1	2	0	2	0	0	0	3	3	3	2	3	4	3	4	3	4	1	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:6504600G>A	ENST00000377828.1	+	6	1218	c.1050G>A	c.(1048-1050)ccG>ccA	p.P350P	RP1-202O8.2_ENST00000419034.1_RNA	NM_031475.2	NP_113663.2	B1AK53	ESPN_HUMAN	espin	350					sensory perception of sound	brush border|cytoplasm|filamentous actin|stereocilium	actin filament binding|SH3 domain binding			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|skin(1)	17	Ovarian(185;0.0386)|all_lung(157;0.154)	all_cancers(23;3.6e-37)|all_epithelial(116;2.56e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|all_hematologic(16;6.92e-06)|Colorectal(325;4.47e-05)|Acute lymphoblastic leukemia(12;4.92e-05)|Breast(487;7.61e-05)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0392)		Epithelial(90;1.82e-35)|GBM - Glioblastoma multiforme(13;3e-28)|Kidney(185;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(229;5.63e-08)|Colorectal(212;7e-08)|COAD - Colon adenocarcinoma(227;1.41e-05)|BRCA - Breast invasive adenocarcinoma(365;0.000109)|STAD - Stomach adenocarcinoma(132;0.00167)|Lung(427;0.0108)|LUSC - Lung squamous cell carcinoma(448;0.0253)|READ - Rectum adenocarcinoma(331;0.0419)		CTAAGCAGCCGGATTCAGGCA	0.612													A	6504600	G	A	6504600	2	1	706	1	0	0	0	0	0	0	0	1	5295	1103	39	1		1	ESPN	1	6504600	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	4160719	6504600	242746021	2	54342											
WASF2	10163	broad.mit.edu	37	chr1	27736491	27736491	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgagggtggtggaggcgtcCctggagacccaaatcctaca	9	7	15	10	1	0	2	0	1	0	1	2	4	2	3	3	5	1	0	3	5	2	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27736491C>T	ENST00000430629.2	-	8	1249	c.1034G>A	c.(1033-1035)gGg>gAg	p.G345E	WASF2_ENST00000536657.1_Intron	NM_001201404.1|NM_006990.3	NP_001188333.1|NP_008921.1	Q9Y6W5	WASF2_HUMAN	WAS protein family, member 2	345					actin cytoskeleton organization|G-protein signaling, coupled to cAMP nucleotide second messenger	actin cytoskeleton|lamellipodium	actin binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	18		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0446)|OV - Ovarian serous cystadenocarcinoma(117;2.46e-25)|Colorectal(126;1.7e-08)|COAD - Colon adenocarcinoma(152;2e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00139)|KIRC - Kidney renal clear cell carcinoma(1967;0.00204)|STAD - Stomach adenocarcinoma(196;0.00325)|READ - Rectum adenocarcinoma(331;0.0481)		TGGAGGCGTCCCTGGAGACCC	0.627													T	27736491	C	T	27736491	3	4	706	1	0	0	0	0	1	0	0	0	17355	623	22	2	470	2	WASF2	1	27736491	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	21231891	27736491	221514130	3	54343											
AHDC1	27245	broad.mit.edu	37	chr1	27877444	27877444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgtccggctttccgccggcGacacaggatctttggcctat	5	10	11	15	5	1	0	0	0	1	0	3	2	3	1	5	4	0	1	5	4	1	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:27877444G>A	ENST00000374011.2	-	6	2151	c.1183C>T	c.(1183-1185)Cgc>Tgc	p.R395C	AHDC1_ENST00000247087.5_Missense_Mutation_p.R395C	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	395	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		TTCCGCCGGCGACACAGGATC	0.716													A	27877444	G	A	27877444	3	1	706	1	0	0	0	0	1	0	0	0	412	1058	37	1	3632	1	AHDC1	1	27877444	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	140953	27877444	221373177	4	54344											
KIAA0754	643314	broad.mit.edu	37	chr1	39878107	39878107	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatggtgaggcaaaagagCtggattatcaagccacactt	14	8	12	7	0	1	2	1	1	0	1	1	4	1	4	1	4	2	2	1	4	4	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:39878107C>T	ENST00000530275.1	+	1	1957	c.1762C>T	c.(1762-1764)Ctg>Ttg	p.L588L	MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000372915.3_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000564288.1_Intron|MACF1_ENST00000289893.4_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	588										central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGCAAAAGAGCTGGATTATCA	0.448													T	39878107	C	T	39878107	2	4	706	1	0	0	0	0	0	0	0	1	8250	796	28	2		2	KIAA0754	1	39878107	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	12000663	39878107	209372514	5	54345											
LRRC7	57554	broad.mit.edu	37	chr1	70493911	70493911	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagaggatttaaagaatatgGtaaaatctgttcaaaatttg	17	13	8	3	0	2	2	1	0	1	2	2	3	2	3	0	2	0	2	0	2	8	6			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:70493911G>C	ENST00000310961.5	+	19	2171	c.1753G>C	c.(1753-1755)Gta>Cta	p.V585L	RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000415775.2_Intron|LRRC7_ENST00000035383.5_Missense_Mutation_p.V580L			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	580						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AAAGAATATGGTAAAATCTGT	0.338													C	70493911	G	C	70493911	3	2	706	1	0	0	0	0	1	0	0	0	9090	1261	44	4	1800	4	LRRC7	1	70493911	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	30615804	70493911	178756710	6	54346											
SCYL3	57147	broad.mit.edu	37	chr1	169828224	169828224	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagtaaaacttggggcagTgcgtttgaagatcttggttc	9	15	12	5	1	1	2	0	1	1	1	2	2	1	2	0	3	2	4	0	3	4	7			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr1:169828224T>G	ENST00000367771.6	-	11	1484	c.1270A>C	c.(1270-1272)Act>Cct	p.T424P	SCYL3_ENST00000367770.1_Missense_Mutation_p.T424P|SCYL3_ENST00000367772.4_Missense_Mutation_p.T424P	NM_020423.6	NP_065156.5	Q8IZE3	PACE1_HUMAN	SCY1-like 3 (S. cerevisiae)						cell migration	Golgi apparatus|lamellipodium	ATP binding|protein binding|protein kinase activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)					CTTGGGGCAGTGCGTTTGAAG	0.393													G	169828224	T	G	169828224	3	3	706	1	0	0	0	0	1	0	0	0	14042	1696	59	5	974	5	SCYL3	1	169828224	Missense_Mutation	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08	99334313	169828224	79422397	7	54347											
SLC30A3	7781	broad.mit.edu	37	chr2	27479686	27479686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattcgaagaacgtctcggaGggtgggagcggtggatccaa	10	7	17	7	4	1	1	0	0	1	1	4	6	2	4	1	5	2	0	1	5	3	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:27479686G>A	ENST00000233535.4	-	6	1205	c.853C>T	c.(853-855)Ctc>Ttc	p.L285F	SLC30A3_ENST00000447008.2_Missense_Mutation_p.L280F	NM_003459.4	NP_003450.2	Q99726	ZNT3_HUMAN	solute carrier family 30 (zinc transporter), member 3	285					regulation of sequestering of zinc ion	cell junction|integral to plasma membrane|late endosome|membrane fraction|synaptic vesicle membrane	zinc transporting ATPase activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|pancreas(1)	20	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACGTCTCGGAGGGTGGGAGCG	0.587													A	27479686	G	A	27479686	3	1	706	1	0	0	0	0	1	0	0	0	14650	1000	35	2	325	2	SLC30A3	2	27479686	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		27479686	215719687	8	54348											
SPATS2L	26010	broad.mit.edu	37	chr2	201284007	201284007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcaagtccaagcagcAtcaaggcaacaaagatgcta	19	4	9	9	0	1	2	1	0	0	2	2	2	2	2	1	1	5	5	1	1	8	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:201284007A>G	ENST00000358677.5	+	6	480	c.233A>G	c.(232-234)cAt>cGt	p.H78R	SPATS2L_ENST00000409140.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000409755.3_Missense_Mutation_p.H108R|SPATS2L_ENST00000409151.1_Missense_Mutation_p.H86R|SPATS2L_ENST00000409718.1_Missense_Mutation_p.H78R|SPATS2L_ENST00000409988.3_Missense_Mutation_p.H78R|SPATS2L_ENST00000360760.5_Missense_Mutation_p.H78R|SPATS2L_ENST00000451764.2_Missense_Mutation_p.H78R|SPATS2L_ENST00000409385.1_Missense_Mutation_p.H18R	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						TCCAAGCAGCATCAAGGCAAC	0.448													G	201284007	A	G	201284007	3	3	706	1	0	0	0	0	1	0	0	0	15116	217	8	3	247	3	SPATS2L	2	201284007	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	173804321	201284007	41915366	9	54349											
CCDC108	255101	broad.mit.edu	37	chr2	219895995	219895995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gcagcatctggaatgggctgGagaactcccaggtgaagaag	12	6	15	8	0	1	3	0	1	1	2	2	5	2	4	1	4	2	3	1	4	4	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr2:219895995G>A	ENST00000341552.5	-	8	931	c.848C>T	c.(847-849)tCc>tTc	p.S283F	CCDC108_ENST00000441968.1_Missense_Mutation_p.S283F|CCDC108_ENST00000409865.3_Missense_Mutation_p.S272F|CCDC108_ENST00000453220.1_Missense_Mutation_p.S283F|CCDC108_ENST00000410037.1_Missense_Mutation_p.S218F	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	283						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GAATGGGCTGGAGAACTCCCA	0.652													A	219895995	G	A	219895995	3	1	706	1	0	0	0	0	1	0	0	0	2769	1174	41	2	5041	2	CCDC108	2	219895995	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	18611988	219895995	23303378	10	54350											
SEC61A1	29927	broad.mit.edu	37	chr3	127783859	127783859	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgccaccatctttgtcttTgcagtggtcatctatttcca	7	16	6	12	1	4	0	1	0	3	0	6	0	5	0	3	1	1	1	3	1	1	4			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr3:127783859T>C	ENST00000243253.3	+	8	940	c.756T>C	c.(754-756)ttT>ttC	p.F252F	SEC61A1_ENST00000424880.2_Silent_p.F132F|SEC61A1_ENST00000464451.1_Silent_p.F258F|RUVBL1_ENST00000464873.1_3'UTR|SEC61A1_ENST00000483956.1_Intron	NM_013336.3	NP_037468.1	P61619	S61A1_HUMAN	Sec61 alpha 1 subunit (S. cerevisiae)	252					protein targeting to ER	integral to endoplasmic reticulum membrane	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|protein binding|ribosome binding			central_nervous_system(1)|kidney(1)|large_intestine(5)|liver(1)|lung(8)|ovary(1)|prostate(4)	21						TCTTTGTCTTTGCAGTGGTCA	0.532													C	127783859	T	C	127783859	2	2	706	1	0	0	0	0	0	0	0	1	14093	1809	63	3		3	SEC61A1	3	127783859	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		127783859	70238571	11	54351											
SLC30A5	64924	broad.mit.edu	37	chr5	68412039	68412039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtgctatattcttcatttTgtgtaagcattccccccttt	7	18	6	10	0	2	0	1	0	1	0	3	1	3	0	3	0	2	3	3	0	3	9			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:68412039T>C	ENST00000396591.3	+	9	1680	c.1070T>C	c.(1069-1071)tTg>tCg	p.L357S	CTC-498J12.3_ENST00000504129.1_RNA	NM_022902.4	NP_075053.2	Q8TAD4	ZNT5_HUMAN	solute carrier family 30 (zinc transporter), member 5	357					cellular zinc ion homeostasis|cobalt ion transport|regulation of proton transport|response to zinc ion	apical plasma membrane|Golgi apparatus|integral to plasma membrane|membrane fraction|secretory granule membrane	zinc ion binding|zinc ion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Lung NSC(167;0.000986)|Prostate(74;0.00809)|Colorectal(97;0.0508)|Ovarian(174;0.16)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		TTCTTCATTTTGTGTAAGCAT	0.393													C	68412039	T	C	68412039	3	2	706	1	0	0	0	0	1	0	0	0	14652	1821	63	3	1192	3	SLC30A5	5	68412039	Missense_Mutation	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		68412039	112503221	12	54352											
ERAP2	64167	broad.mit.edu	37	chr5	96232446	96232446	+	Frame_Shift_Del	DEL	T	T	-																															ttttttaaagggagcttgtaTtttgaatatgctcaaggatt																										TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:96232446delT	ENST00000437043.3	+	9	2093	c.1382delT	c.(1381-1383)attfs	p.I461fs	CTD-2260A17.2_ENST00000501338.1_Intron|ERAP2_ENST00000515095.1_3'UTR|ERAP2_ENST00000379904.4_Frame_Shift_Del_p.I416fs	NM_001130140.1|NM_022350.3	NP_001123612.1|NP_071745.1	Q6P179	ERAP2_HUMAN	endoplasmic reticulum aminopeptidase 2	461					antigen processing and presentation of endogenous peptide antigen via MHC class I|proteolysis|regulation of blood pressure	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	aminopeptidase activity|metallopeptidase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24		all_cancers(142;0.000311)|all_epithelial(76;1.54e-06)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0596)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0703)		GGAGCTTGTATTTTGAATATG	0.303													-	96232446	T	-	96232446	7	5	706	1	0	1	0	1	0	0	0	0	5245	1493	52	0	1412	0	ERAP2	5	96232446	Frame_Shift_Del	DEL	T	TCGA-S9-A6UA-01A-12D-A33T-08	27820407	96232446	84682814	13	54353											
PCDHB11	56125	broad.mit.edu	37	chr5	140579893	140579894	+	Frame_Shift_Del	DEL	GA	GA	-																															tctcattttcacattaaaatGagagtcattccagacaatag																										TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr5:140579893_140579894delGA	ENST00000354757.3	+	1	546_547	c.546_547delGA	c.(544-549)atgagafs	p.R183fs	PCDHB11_ENST00000536699.1_Intron	NM_018931.2	NP_061754.1	Q9Y5F2	PCDBB_HUMAN		183	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(23)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACATTAAAATGAGAGTCATTCC	0.431													-	140579894	GA	-	140579893	7	5	706	1	0	1	0	1	0	0	0	0	11612	1290	45	0	548	0	PCDHB11	5	140579893	Frame_Shift_Del	DEL	GA	TCGA-S9-A6UA-01A-12D-A33T-08	44347447	140579893	40335367	14	54354											
PSMB1	5689	broad.mit.edu	37	chr6	170852781	170852781	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acagcattgcagcaattgccCccgtagtcatggccttatta	10	11	8	12	1	1	0	1	0	0	0	1	0	1	0	3	1	4	4	3	1	4	5			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr6:170852781C>T	ENST00000262193.6	-	4	439	c.341G>A	c.(340-342)gGg>gAg	p.G114E	PSMB1_ENST00000462957.1_5'UTR	NM_002793.3	NP_002784.1	P20618	PSB1_HUMAN	proteasome (prosome, macropain) subunit, beta type, 1	114					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cell junction|cytoplasm|nucleus|proteasome core complex	protein binding|threonine-type endopeptidase activity			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)	5		Breast(66;5.08e-05)|Ovarian(120;0.0563)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;7.5e-23)|BRCA - Breast invasive adenocarcinoma(81;4.88e-06)|GBM - Glioblastoma multiforme(31;0.00643)	Bortezomib(DB00188)	AGCAATTGCCCCCGTAGTCAT	0.403													T	170852781	C	T	170852781	3	4	706	1	0	0	0	0	1	0	0	0	12759	623	22	2	396	2	PSMB1	6	170852781	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		170852781	262286	15	54355											
GIMAP7	168537	broad.mit.edu	37	chr7	150217542	150217542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaagcatcgtcaaggagtgCgggaaccgctgctgtgcctt	10	8	13	10	3	1	0	1	0	0	0	2	2	1	2	2	2	5	3	2	2	4	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr7:150217542C>T	ENST00000313543.4	+	2	637	c.480C>T	c.(478-480)tgC>tgT	p.C160C		NM_153236.3	NP_694968.1	Q8NHV1	GIMA7_HUMAN	GTPase, IMAP family member 7	160							GTP binding			breast(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17			OV - Ovarian serous cystadenocarcinoma(82;0.0218)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TCAAGGAGTGCGGGAACCGCT	0.502													T	150217542	C	T	150217542	2	4	706	1	0	0	0	0	0	0	0	1	6440	776	27	1		1	GIMAP7	7	150217542	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		150217542	8921121	16	54356											
INTS10	55174	broad.mit.edu	37	chr8	19694646	19694646	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatcccaggaggaaccctcGaaagtaaagcccaaatttag	17	6	8	10	1	0	0	0	0	0	0	2	3	1	2	3	2	2	1	3	2	7	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr8:19694646G>A	ENST00000397977.3	+	13	2012	c.1614G>A	c.(1612-1614)tcG>tcA	p.S538S		NM_018142.2	NP_060612.2	Q9NVR2	INT10_HUMAN	integrator complex subunit 10	538					snRNA processing	integrator complex	protein binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	20				Colorectal(111;0.057)|COAD - Colon adenocarcinoma(73;0.215)		AGGAACCCTCGAAAGTAAAGC	0.403													A	19694646	G	A	19694646	2	1	706	1	0	0	0	0	0	0	0	1	7834	1045	37	1		1	INTS10	8	19694646	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		19694646	126669376	17	54357											
C9orf156	51531	broad.mit.edu	37	chr9	100667129	100667129	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaaaccagcaagtgacatgCgctatgtctacagtaaagta	15	8	8	10	1	1	1	0	1	1	0	1	1	1	1	2	0	4	4	2	0	7	4			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:100667129C>T	ENST00000375119.3	-	5	1288	c.1212G>A	c.(1210-1212)gcG>gcA	p.A404A		NM_016481.3	NP_057565.3	Q9BU70	NAP1_HUMAN	chromosome 9 open reading frame 156	404					interspecies interaction between organisms		hydrolase activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(3)|prostate(1)|skin(1)	13		Acute lymphoblastic leukemia(62;0.158)				AAGTGACATGCGCTATGTCTA	0.552													T	100667129	C	T	100667129	2	4	706	1	0	0	0	0	0	0	0	1	2491	755	27	1		1	C9orf156	9	100667129	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		100667129	40546302	18	54358											
COL15A1	1306	broad.mit.edu	37	chr9	101765779	101765779	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggccgaggtgcccatcagCactgctggagaagcagaggc	9	5	15	12	1	1	2	1	0	0	2	1	4	1	2	2	4	4	3	2	4	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr9:101765779C>T	ENST00000375001.3	+	8	1533	c.1110C>T	c.(1108-1110)agC>agT	p.S370S		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	370	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				TGCCCATCAGCACTGCTGGAG	0.577													T	101765779	C	T	101765779	2	4	706	1	0	0	0	0	0	0	0	1	3703	709	25	2		2	COL15A1	9	101765779	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	1098650	101765779	39447652	19	54359											
MPP7	143098	broad.mit.edu	37	chr10	28378749	28378749	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttatcttttctactaagaCgaaaactttttctaaaacca	14	16	2	9	1	4	1	0	0	4	1	4	2	4	1	1	0	3	0	1	0	7	8	rs145943944	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:28378749C>T	ENST00000337532.5	-	13	1250	c.974G>A	c.(973-975)cGt>cAt	p.R325H	MPP7_ENST00000375732.1_Missense_Mutation_p.R325H|MPP7_ENST00000445954.2_Missense_Mutation_p.R200H|MPP7_ENST00000375719.3_Missense_Mutation_p.R325H|MPP7_ENST00000540098.1_Missense_Mutation_p.R325H	NM_173496.3	NP_775767.2	Q5T2T1	MPP7_HUMAN	membrane protein, palmitoylated 7 (MAGUK p55 subfamily member 7)	325					establishment of cell polarity|positive regulation of protein complex assembly|protein localization to adherens junction|tight junction assembly	MPP7-DLG1-LIN7 complex|tight junction	protein complex scaffold|protein domain specific binding|protein heterodimerization activity|signaling adaptor activity			autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	22						TCTACTAAGACGAAAACTTTT	0.313													T	28378749	C	T	28378749	3	4	706	1	0	0	0	0	1	0	0	0	9815	536	19	1	780	1	MPP7	10	28378749	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		28378749	107155998	20	54360											
CDH23	64072	broad.mit.edu	37	chr10	73565576	73565576	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccacaggagatcccgctgcGctccaacgtgtacgaggtct	8	7	11	15	4	1	1	0	0	1	1	3	3	3	1	3	2	3	3	3	2	2	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:73565576G>A	ENST00000224721.6	+	55	7906	c.7901G>A	c.(7900-7902)cGc>cAc	p.R2634H	CDH23_ENST00000475158.1_3'UTR|CDH23_ENST00000398788.3_Missense_Mutation_p.R389H	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2629	Cadherin 25.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						ATCCCGCTGCGCTCCAACGTG	0.627													A	73565576	G	A	73565576	3	1	706	1	0	0	0	0	1	0	0	0	3138	1087	38	1	8449	1	CDH23	10	73565576	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	45186827	73565576	61969171	21	54361											
USP54	159195	broad.mit.edu	37	chr10	75331188	75331188	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagtacttaccttgagagcGcaaaagatgcaggaatctcc	14	8	10	9	1	1	2	0	1	1	2	2	5	1	3	2	1	4	3	2	1	6	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:75331188G>A	ENST00000339859.4	-	3	331	c.231C>T	c.(229-231)tgC>tgT	p.C77C	USP54_ENST00000394811.2_5'UTR|USP54_ENST00000428547.1_Silent_p.C77C|USP54_ENST00000319786.7_Silent_p.C77C|USP54_ENST00000408019.1_Silent_p.C77C			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	77					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					CCTTGAGAGCGCAAAAGATGC	0.433													A	75331188	G	A	75331188	2	1	706	1	0	0	0	0	0	0	0	1	17187	1079	38	1		1	USP54	10	75331188	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	1765612	75331188	60203559	22	54362											
CHST15	51363	broad.mit.edu	37	chr10	125805699	125805699	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgcgccgtcgggtaacagCtgtatgcagcaattaatgca	10	10	12	9	3	0	0	0	0	0	0	1	0	0	0	1	1	6	6	1	1	4	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:125805699C>T	ENST00000346248.5	-	2	672	c.30G>A	c.(28-30)caG>caA	p.Q10Q	CHST15_ENST00000462406.1_5'UTR|CHST15_ENST00000435907.1_Silent_p.Q10Q|CHST15_ENST00000421115.1_Silent_p.Q10Q	NM_015892.4	NP_056976.2	Q7LFX5	CHSTF_HUMAN	carbohydrate (N-acetylgalactosamine 4-sulfate 6-O) sulfotransferase 15	10					hexose biosynthetic process	Golgi membrane|integral to membrane	3'-phosphoadenosine 5'-phosphosulfate binding|N-acetylgalactosamine 4-sulfate 6-O-sulfotransferase activity			endometrium(4)|kidney(1)|large_intestine(11)|lung(6)|ovary(3)|stomach(1)	26						CGGGTAACAGCTGTATGCAGC	0.607													T	125805699	C	T	125805699	2	4	706	1	0	0	0	0	0	0	0	1	3433	796	28	2		2	CHST15	10	125805699	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	50474511	125805699	9729048	23	54363											
MKI67	4288	broad.mit.edu	37	chr10	129902953	129902953	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggtgtgtccatggctttgCctgctgatggtgttcgtttc	2	18	13	8	1	0	1	0	1	0	0	3	1	1	1	2	3	2	4	2	3	0	4			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr10:129902953C>T	ENST00000368654.3	-	13	7526	c.7151G>A	c.(7150-7152)gGc>gAc	p.G2384D	MKI67_ENST00000368653.3_Missense_Mutation_p.G2024D	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	2384	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				CATGGCTTTGCCTGCTGATGG	0.458													T	129902953	C	T	129902953	3	4	706	1	0	0	0	0	1	0	0	0	9673	739	26	2	2631	2	MKI67	10	129902953	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	4097254	129902953	5631794	24	54364											
MUC6	4588	broad.mit.edu	37	chr11	1023958	1023958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcactcacggcagaaggccGgggtcctccagtccacgcac	8	5	12	16	3	2	1	2	0	0	1	5	1	5	1	4	4	0	2	4	4	1	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:1023958G>A	ENST00000421673.2	-	25	3421	c.3371C>T	c.(3370-3372)cCg>cTg	p.P1124L		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1124					maintenance of gastrointestinal epithelium	extracellular region	extracellular matrix structural constituent			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCAGAAGGCCGGGGTCCTCCA	0.687													A	1023958	G	A	1023958	3	1	706	1	0	0	0	0	1	0	0	0	10056	1116	39	1	3984	1	MUC6	11	1023958	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		1023958	133982558	25	54365											
ZNF143	7702	broad.mit.edu	37	chr11	9534059	9534059	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggtgtagaaggggacgaCgttgtttctacacaagtagc	12	9	13	7	2	1	1	0	0	1	1	1	3	1	2	0	3	2	4	0	3	5	5			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:9534059C>T	ENST00000396602.2	+	13	1559	c.1440C>T	c.(1438-1440)gaC>gaT	p.D480D	ZNF143_ENST00000299606.2_Silent_p.D452D|ZNF143_ENST00000530463.1_Silent_p.D479D|ZNF143_ENST00000396597.3_Silent_p.D449D|ZNF143_ENST00000396604.1_Silent_p.D479D	NM_001282656.1|NM_001282657.1|NM_003442.5	NP_001269585.1|NP_001269586.1|NP_003433.3	P52747	ZN143_HUMAN	zinc finger protein 143	480					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|zinc ion binding	p.D480D(1)		endometrium(1)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	13				all cancers(16;4.12e-09)|Epithelial(150;2.29e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0212)		AAGGGGACGACGTTGTTTCTA	0.418													T	9534059	C	T	9534059	2	4	706	1	0	0	0	0	0	0	0	1	17833	535	19	1		1	ZNF143	11	9534059	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	8510101	9534059	125472457	26	54366											
ABCG4	64137	broad.mit.edu	37	chr11	119031673	119031673	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagaggaacgctgcccgttcCgggagccacagagcatcctc	9	6	12	14	3	0	2	0	0	0	2	3	4	2	4	4	2	4	3	4	2	2	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr11:119031673C>T	ENST00000307417.3	+	15	2162	c.1798C>T	c.(1798-1800)Cgg>Tgg	p.R600W	ABCG4_ENST00000531739.1_Missense_Mutation_p.R600W|ABCG4_ENST00000449422.2_Missense_Mutation_p.R600W	NM_022169.4	NP_071452.2	Q9H172	ABCG4_HUMAN	ATP-binding cassette, sub-family G (WHITE), member 4	600	ABC transmembrane type-2.				cholesterol efflux	integral to membrane	ATP binding|ATPase activity|protein heterodimerization activity|protein homodimerization activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(28)|ovary(2)|prostate(1)|skin(1)	44	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CTGCCCGTTCCGGGAGCCACA	0.572													T	119031673	C	T	119031673	3	4	706	1	0	0	0	0	1	0	0	0	70	643	23	1	1852	1	ABCG4	11	119031673	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	109497614	119031673	15974843	27	54367											
C1RL	51279	broad.mit.edu	37	chr12	7261741	7261741	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	cctttggagtgagggcttctCcagagatatttcccccacac	8	11	9	13	0	1	2	0	1	1	1	3	4	2	3	4	2	0	1	4	2	1	4			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:7261741C>G	ENST00000266542.4	-	1	128	c.36G>C	c.(34-36)tgG>tgC	p.W12C	C1RL-AS1_ENST00000382215.3_RNA|C1RL-AS1_ENST00000435921.2_RNA|C1RL_ENST00000544702.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000541775.1_RNA|C1RL_ENST00000545280.1_Missense_Mutation_p.W12C|C1RL_ENST00000545337.1_Missense_Mutation_p.W12C|C1RL-AS1_ENST00000536679.1_RNA	NM_016546.2	NP_057630.2	Q9NZP8	C1RL_HUMAN	complement component 1, r subcomponent-like	12					complement activation, classical pathway|innate immune response|proteolysis		serine-type endopeptidase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GAGGGCTTCTCCAGAGATATT	0.602											OREG0021648	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	7261741	C	G	7261741	3	3	706	1	0	0	0	0	1	0	0	0	1993	856	30	4	1451	4	C1RL	12	7261741	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		7261741	126590154	28	54368											
SLCO1A2	6579	broad.mit.edu	37	chr12	21453315	21453315	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atatttttccttcttgacctCttctttttgtttgtcttcat	4	25	3	9	0	5	1	1	1	4	0	6	1	6	1	2	0	0	1	2	0	1	10			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:21453315C>G	ENST00000307378.6	-	9	1597	c.877G>C	c.(877-879)Gag>Cag	p.E293Q	SLCO1A2_ENST00000390670.3_Missense_Mutation_p.E291Q|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.E161Q|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.E293Q|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.E161Q	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	293					bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						TTCTTGACCTCTTCTTTTTGT	0.299													G	21453315	C	G	21453315	3	3	706	1	0	0	0	0	1	0	0	0	14816	922	32	4	1167	4	SLCO1A2	12	21453315	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	14191574	21453315	112398580	29	54369											
WIBG	84305	broad.mit.edu	37	chr12	56297190	56297190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cactgggacctcctcctgggGcacatatccttctttcaccc	6	11	7	17	0	2	0	1	0	1	0	5	1	5	1	5	3	0	1	5	3	1	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:56297190G>A	ENST00000408946.2	-	2	263	c.112C>T	c.(112-114)Ccc>Tcc	p.P38S	WIBG_ENST00000557259.1_3'UTR|WIBG_ENST00000547925.1_3'UTR|WIBG_ENST00000302533.6_5'UTR|WIBG_ENST00000398213.4_Missense_Mutation_p.P37S	NM_032345.2	NP_115721.1	Q9BRP8	WIBG_HUMAN	within bgcn homolog (Drosophila)	38					nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation	cytoplasm|exon-exon junction complex|nucleolus|nucleoplasm	protein binding|ribosome binding|RNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)	5						TCCTCCTGGGGCACATATCCT	0.493													A	56297190	G	A	56297190	3	1	706	1	0	0	0	0	1	0	0	0	17467	1203	42	2	510	2	WIBG	12	56297190	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	34843875	56297190	77554705	30	54370											
KERA	11081	broad.mit.edu	37	chr12	91449700	91449700	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataagaagagcaacttcttcAgctggcttagggctcctttt	10	13	9	9	0	2	2	1	0	1	2	3	2	3	2	1	2	3	4	1	2	4	6	rs145871038		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:91449700A>G	ENST00000266719.3	-	2	606	c.359T>C	c.(358-360)cTg>cCg	p.L120P		NM_007035.3	NP_008966.1	O60938	KERA_HUMAN	keratocan	120					response to stimulus|visual perception	proteinaceous extracellular matrix				breast(2)|large_intestine(8)|lung(5)|prostate(2)|skin(2)	19						CAACTTCTTCAGCTGGCTTAG	0.383													G	91449700	A	G	91449700	3	3	706	1	0	0	0	0	1	0	0	0	8201	188	7	3	707	3	KERA	12	91449700	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	35152510	91449700	42402195	31	54371											
GNPTAB	79158	broad.mit.edu	37	chr12	102158081	102158081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaagtaacacttcagtaaCgcctatgtgattttcagcat	12	13	6	10	1	2	1	2	1	0	0	3	1	3	1	2	0	3	3	2	0	4	6			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr12:102158081C>T	ENST00000299314.7	-	13	2876	c.2614G>A	c.(2614-2616)Gtt>Att	p.V872I		NM_024312.4	NP_077288.2	Q3T906	GNPTA_HUMAN	N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits	872					cell differentiation	Golgi membrane|integral to membrane|nucleus	metal ion binding|transcription factor binding|UDP-N-acetylglucosamine-lysosomal-enzyme N-acetylglucosaminephosphotransferase activity			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(8)|lung(8)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	37						ACTTCAGTAACGCCTATGTGA	0.383													T	102158081	C	T	102158081	3	4	706	1	0	0	0	0	1	0	0	0	6601	536	19	1	1192	1	GNPTAB	12	102158081	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	10708381	102158081	31693814	32	54372											
XPO4	64328	broad.mit.edu	37	chr13	21361632	21361632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcttaccttaagaaagtgCcgtgttgctagaaaaagtgg	13	11	10	7	1	1	2	0	0	1	2	1	2	1	2	2	1	3	2	2	1	6	4			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:21361632C>T	ENST00000400602.2	-	21	3188	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000255305.6_Silent_p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1051					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458													T	21361632	C	T	21361632	2	4	706	1	0	0	0	0	0	0	0	1	17548	726	26	2		2	XPO4	13	21361632	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		21361632	93808246	33	54373											
RCBTB2	1102	broad.mit.edu	37	chr13	49075985	49075985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcagtgactcagccacTgtgaggtggtcatcaggttc	7	12	11	11	0	5	2	4	2	1	0	6	2	5	2	1	3	1	1	1	3	0	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr13:49075985T>C	ENST00000344532.3	-	12	1560	c.1137A>G	c.(1135-1137)acA>acG	p.T379T	RCBTB2_ENST00000430805.2_Silent_p.T384T|RCBTB2_ENST00000544492.1_Silent_p.T105T	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	379							Ran guanyl-nucleotide exchange factor activity			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		ACTCAGCCACTGTGAGGTGGT	0.438													C	49075985	T	C	49075985	2	2	706	1	0	0	0	0	0	0	0	1	13260	1567	55	3		3	RCBTB2	13	49075985	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08	27714353	49075985	66093893	34	54374											
TDRD9	122402	broad.mit.edu	37	chr14	104492043	104492043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacttggtctgtctggcacCttttgctgattttgataaac	8	16	9	8	0	2	3	0	2	2	1	2	3	2	3	1	2	2	2	1	2	2	6			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr14:104492043C>T	ENST00000409874.4	+	26	2909	c.2861C>T	c.(2860-2862)cCt>cTt	p.P954L	TDRD9_ENST00000339063.5_Missense_Mutation_p.P954L	NM_153046.2	NP_694591.2	Q8NDG6	TDRD9_HUMAN	tudor domain containing 9	954	Tudor.				cell differentiation|DNA methylation involved in gamete generation|fertilization|gene silencing by RNA|male meiosis|multicellular organismal development|piRNA metabolic process|spermatogenesis	nucleus|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	33		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0768)				TGTCTGGCACCTTTTGCTGAT	0.438													T	104492043	C	T	104492043	3	4	706	1	0	0	0	0	1	0	0	0	15836	681	24	2	2963	2	TDRD9	14	104492043	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		104492043	2857497	35	54375											
NR2E3	10002	broad.mit.edu	37	chr15	72104223	72104224	+	RNA	INS	-	-	G																															aggacggtgaggcgggggctINSggcccggggggaggtgacaa																										TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr15:72104223_72104224insG	ENST00000398840.2	+	0	539							Q9Y5X4	NR2E3_HUMAN	nuclear receptor subfamily 2, group E, member 3						phototransduction|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription from RNA polymerase II promoter|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|endometrium(1)|lung(1)	3						AGGCGGGGGCTGGCCCGGGGGG	0.693													G	72104224	-	G	72104223	6	5	706	0	1	1	1	0	0	0	0	0	10702	1595	55	0		0	NR2E3	15	72104223	RNA	INS	-	TCGA-S9-A6UA-01A-12D-A33T-08		72104223	30427169	36	54376											
RHBDF1	64285	broad.mit.edu	37	chr16	113631	113631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacgtagagtgggggtggcGtctcggtgctggtcagcgac	5	8	18	10	4	2	1	1	0	1	1	3	2	2	1	1	5	2	2	1	5	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:113631G>A	ENST00000262316.6	-	4	558	c.416C>T	c.(415-417)aCg>aTg	p.T139M	RHBDF1_ENST00000454039.2_Missense_Mutation_p.T139M	NM_022450.3	NP_071895.3	Q96CC6	RHDF1_HUMAN	rhomboid 5 homolog 1 (Drosophila)	139					cell migration|cell proliferation|negative regulation of protein secretion|protein transport|proteolysis|regulation of epidermal growth factor receptor signaling pathway|regulation of proteasomal protein catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane	growth factor binding|serine-type endopeptidase activity			breast(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|prostate(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	18		all_cancers(16;2.56e-05)|all_epithelial(16;0.000116)|Hepatocellular(780;0.0068)|Lung NSC(18;0.0795)|all_lung(18;0.159)				TGGGGGTGGCGTCTCGGTGCT	0.667													A	113631	G	A	113631	3	1	706	1	0	0	0	0	1	0	0	0	13408	1145	40	1	2211	1	RHBDF1	16	113631	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		113631	90241122	37	54377											
CLDN6	9074	broad.mit.edu	37	chr16	3065626	3065626	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccagcacacggggattaGcgtcaggacccctgagatga	10	6	13	12	3	1	2	1	2	0	1	2	5	2	4	3	3	2	1	3	3	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:3065626G>A	ENST00000396925.1	-	3	825	c.397C>T	c.(397-399)Cta>Tta	p.L133L	CLDN6_ENST00000328796.4_Silent_p.L133L|CLDN6_ENST00000572154.1_Intron			P56747	CLD6_HUMAN	claudin 6	133					calcium-independent cell-cell adhesion	integral to membrane|tight junction	identical protein binding|structural molecule activity			kidney(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	10						ACGGGGATTAGCGTCAGGACC	0.607													A	3065626	G	A	3065626	2	1	706	1	0	0	0	0	0	0	0	1	3520	962	34	2		2	CLDN6	16	3065626	Silent	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	2951995	3065626	87289127	38	54378											
ZNF646	9726	broad.mit.edu	37	chr16	31090150	31090150	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctttcccccatgccactggCctgctgagccacaggccctg	5	9	9	18	0	1	1	0	1	1	0	2	1	2	1	6	2	3	1	6	2	0	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:31090150C>T	ENST00000394979.2	+	1	2928	c.2505C>T	c.(2503-2505)ggC>ggT	p.G835G	ZNF646_ENST00000300850.5_Silent_p.G835G			O15015	ZN646_HUMAN	zinc finger protein 646	835					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(1)|lung(21)|ovary(1)|prostate(4)|skin(3)	49						ATGCCACTGGCCTGCTGAGCC	0.622													T	31090150	C	T	31090150	2	4	706	1	0	0	0	0	0	0	0	1	18163	726	26	2		2	ZNF646	16	31090150	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	28024524	31090150	59264603	39	54379											
SIAH1	6477	broad.mit.edu	37	chr16	48395776	48395776	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctaagactaacatgaaGtgaaagccaaaacaggactg	17	8	8	8	0	1	3	0	2	1	1	2	4	1	4	1	1	3	0	1	1	6	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:48395776G>C	ENST00000380006.2	-	1	2017	c.564C>G	c.(562-564)caC>caG	p.H188Q	SIAH1_ENST00000394725.2_Missense_Mutation_p.H188Q|SIAH1_ENST00000356721.3_Missense_Mutation_p.H219Q			Q8IUQ4	SIAH1_HUMAN	siah E3 ubiquitin protein ligase 1	188	SBD.				axon guidance|cell cycle|neuron apoptosis|proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|spermatogenesis	beta-catenin destruction complex|cytosol|nucleus	protein C-terminus binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)|stomach(1)	7		all_cancers(37;0.157)|all_lung(18;0.11)|Breast(268;0.238)				CTAACATGAAGTGAAAGCCAA	0.423													C	48395776	G	C	48395776	3	2	706	1	0	0	0	0	1	0	0	0	14393	1020	36	4	288	4	SIAH1	16	48395776	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	17305626	48395776	41958977	40	54380											
CHD9	80205	broad.mit.edu	37	chr16	53279712	53279712	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taatgtacctaacttggtcaAtaccatgatggagctcagga	13	11	9	8	0	2	1	2	1	0	0	2	3	2	3	2	3	4	2	2	3	5	5			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr16:53279712A>G	ENST00000566029.1	+	15	3613	c.3404A>G	c.(3403-3405)aAt>aGt	p.N1135S	CHD9_ENST00000447540.1_Missense_Mutation_p.N1135S|CHD9_ENST00000564845.1_Missense_Mutation_p.N1135S|CHD9_ENST00000398510.3_Missense_Mutation_p.N1135S			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1135					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				AACTTGGTCAATACCATGATG	0.313													G	53279712	A	G	53279712	3	3	706	1	0	0	0	0	1	0	0	0	3362	101	4	3	3458	3	CHD9	16	53279712	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	4883936	53279712	37075041	41	54381											
RABEP1	9135	broad.mit.edu	37	chr17	5264854	5264854	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaaggcgatgacaccagaaCaagaagagacagcgtccctc	15	4	10	12	2	1	4	1	1	0	3	3	6	2	4	2	1	2	0	2	1	4	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:5264854C>A	ENST00000262477.6	+	9	1671	c.1447C>A	c.(1447-1449)Caa>Aaa	p.Q483K	NUP88_ENST00000573169.1_5'UTR|RABEP1_ENST00000408982.2_Missense_Mutation_p.Q483K|RABEP1_ENST00000537505.1_Missense_Mutation_p.Q440K|RABEP1_ENST00000341923.6_Missense_Mutation_p.Q483K|RABEP1_ENST00000546142.2_Missense_Mutation_p.Q483K	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	483					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GACACCAGAACAAGAAGAGAC	0.478													A	5264854	C	A	5264854	3	1	706	1	0	0	0	0	1	0	0	0	13049	479	17	4	1481	4	RABEP1	17	5264854	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		5264854	75930356	42	54382											
PER1	5187	broad.mit.edu	37	chr17	8047182	8047182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcggcttgggggtgcggggCcgtggtggcagcctgtgggg	1	7	25	8	3	0	0	0	0	0	0	0	0	0	0	2	10	2	2	2	10	0	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:8047182C>A	ENST00000317276.4	-	19	2711	c.2474G>T	c.(2473-2475)gGc>gTc	p.G825V	PER1_ENST00000581082.1_Missense_Mutation_p.G802V|PER1_ENST00000578089.1_5'UTR	NM_002616.2	NP_002607.2	O15534	PER1_HUMAN	period circadian clock 1	825					circadian rhythm|entrainment of circadian clock|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	signal transducer activity			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(15)|ovary(4)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						GGGTGCGGGGCCGTGGTGGCA	0.647			T	ETV6	"AML, CMML"			Other conserved DNA damage response genes					A	8047182	C	A	8047182	3	1	706	1	0	0	0	0	1	0	0	0	11805	739	26	4	1418	4	PER1	17	8047182	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	2782328	8047182	73148028	43	54383											
NF1	4763	broad.mit.edu	37	chr17	29527570	29527571	+	Frame_Shift_Ins	INS	-	-	T																															atcaattgggaagataactcINStgtcattttcctacttgttc																										TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29527570_29527571insT	ENST00000358273.4	+	9	1402_1403	c.1019_1020insT	c.(1018-1023)tctgtcfs	p.V341fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.V341fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.V341fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	341					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAAGATAACTCTGTCATTTTCC	0.381			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29527571	-	T	29527570	7	5	706	1	0	1	1	0	0	0	0	0	10432	913	32	0	1053	0	NF1	17	29527570	Frame_Shift_Ins	INS	-	TCGA-S9-A6UA-01A-12D-A33T-08	21480388	29527570	51667640	44	54384											
NF1	4763	broad.mit.edu	37	chr17	29684022	29684022	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aacagcacccacatttacgtAaagtttcagtgtctgaatca	14	11	6	10	1	3	1	2	1	1	0	3	1	3	1	1	0	3	3	1	0	5	4			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:29684022A>T	ENST00000358273.4	+	53	8166	c.7783A>T	c.(7783-7785)Aaa>Taa	p.K2595*	NF1_ENST00000417592.2_3'UTR|NF1_ENST00000356175.3_Nonsense_Mutation_p.K2574*|NF1_ENST00000444181.2_Nonsense_Mutation_p.K388*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2595					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)|p.K2595E(2)|p.K2595fs*5(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ACATTTACGTAAAGTTTCAGT	0.418			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29684022	A	T	29684022	4	4	706	1	0	0	0	0	0	1	0	0	10432	363	13	5	8054	5	NF1	17	29684022	Nonsense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08	156452	29684022	51511188	45	54385											
TOM1L1	10040	broad.mit.edu	37	chr17	52993145	52993145	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gaattggatatggtgaaaatGaatgtgcgagtgatgtccgc	12	11	14	4	2	0	3	0	3	0	0	1	6	1	4	1	2	1	0	1	2	5	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:52993145G>A	ENST00000575882.1	+	7	995	c.642G>A	c.(640-642)atG>atA	p.M214I	TOM1L1_ENST00000540336.1_Missense_Mutation_p.M102I|TOM1L1_ENST00000572405.1_Missense_Mutation_p.M179I|TOM1L1_ENST00000445275.2_Missense_Mutation_p.M214I|TOM1L1_ENST00000575333.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000572158.1_Missense_Mutation_p.M207I|TOM1L1_ENST00000348161.4_Missense_Mutation_p.M137I|TOM1L1_ENST00000570371.1_Missense_Mutation_p.M214I|TOM1L1_ENST00000536554.1_Missense_Mutation_p.M137I	NM_005486.2	NP_005477.2	O75674	TM1L1_HUMAN	target of myb1 (chicken)-like 1	214	GAT.				intracellular protein transport|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway	cytosol|endosome membrane|Golgi stack|lysosome	SH3 domain binding|ubiquitin binding			cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|skin(1)	15						TGGTGAAAATGAATGTGCGAG	0.433													A	52993145	G	A	52993145	3	1	706	1	0	0	0	0	1	0	0	0	16452	1290	45	2	668	2	TOM1L1	17	52993145	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	23309123	52993145	28202065	46	54386											
PPM1D	8493	broad.mit.edu	37	chr17	58740542	58740543	+	Frame_Shift_Del	DEL	AC	AC	-																															aaaattgcgctaaagccctgActttaaggatacatgattct																										TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:58740542_58740543delAC	ENST00000305921.3	+	6	1679_1680	c.1447_1448delAC	c.(1447-1449)actfs	p.T483fs		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	483					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			TAAAGCCCTGACTTTAAGGATA	0.391											OREG0031485	type=REGULATORY REGION|TFbs=ESR1|Dataset=Estrogen Receptor Alpha Binding Sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)	-	58740543	AC	-	58740542	7	5	706	1	0	1	0	1	0	0	0	0	12419	275	10	0	1469	0	PPM1D	17	58740542	Frame_Shift_Del	DEL	AC	TCGA-S9-A6UA-01A-12D-A33T-08	5747397	58740542	22454668	47	54387											
WIPI1	55062	broad.mit.edu	37	chr17	66449057	66449057	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacacacttactgcttcCgtggacttgatccagctgct	8	12	7	14	1	1	1	1	1	0	0	3	2	3	2	2	1	4	3	2	1	1	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:66449057C>T	ENST00000262139.5	-	2	156	c.157G>A	c.(157-159)Gga>Aga	p.G53R	WIPI1_ENST00000589459.1_Intron|WIPI1_ENST00000546360.1_Intron	NM_017983.5	NP_060453.3	Q5MNZ9	WIPI1_HUMAN	WD repeat domain, phosphoinositide interacting 1	53					macroautophagy|vesicle targeting, trans-Golgi to endosome	autophagic vacuole membrane|clathrin-coated vesicle|cytosol|endosome membrane|PAS complex|pre-autophagosomal structure membrane|trans-Golgi network	androgen receptor binding|estrogen receptor binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	18						TTACTGCTTCCGTGGACTTGA	0.498													T	66449057	C	T	66449057	3	4	706	1	0	0	0	0	1	0	0	0	17472	661	23	1	1231	1	WIPI1	17	66449057	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	7708515	66449057	14746153	48	54388											
B3GNTL1	146712	broad.mit.edu	37	chr17	80923550	80923550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctccctcgttaaaggggcCcacgtgggagaaccacgctc	9	6	11	15	3	0	1	0	0	0	1	3	2	1	1	4	3	1	2	4	3	3	1	rs142904836		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr17:80923550C>G	ENST00000576599.1	-	7	994	c.244G>C	c.(244-246)Ggc>Cgc	p.G82R	B3GNTL1_ENST00000320865.3_Missense_Mutation_p.G193R|B3GNTL1_ENST00000571954.1_5'UTR			Q67FW5	B3GNL_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase-like 1	193							transferase activity, transferring glycosyl groups			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|pancreas(1)|skin(1)|urinary_tract(1)	8	Breast(20;0.000443)|all_neural(118;0.0779)	all_cancers(8;0.0396)|all_epithelial(8;0.0556)	BRCA - Breast invasive adenocarcinoma(99;0.0517)|OV - Ovarian serous cystadenocarcinoma(97;0.0868)			TTAAAGGGGCCCACGTGGGAG	0.592													G	80923550	C	G	80923550	3	3	706	1	0	0	0	0	1	0	0	0	1270	623	22	4	532	4	B3GNTL1	17	80923550	Missense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	14474493	80923550	271660	49	54389											
OR1M1	125963	broad.mit.edu	37	chr19	9204100	9204100	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacctccacacccccatgtaCttcttcctggccaacctgtc	7	10	4	20	0	1	0	0	0	1	0	4	0	3	0	7	1	2	1	7	1	2	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:9204100C>A	ENST00000429566.3	+	1	246	c.180C>A	c.(178-180)taC>taA	p.Y60*		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	60					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						CCCCCATGTACTTCTTCCTGG	0.542													A	9204100	C	A	9204100	4	1	706	1	0	0	0	0	0	1	0	0	11044	576	20	4	182	4	OR1M1	19	9204100	Nonsense_Mutation	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		9204100	49924883	50	54390											
PRKCG	5582	broad.mit.edu	37	chr19	54403579	54403579	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaaggagccccatgcagcGtgagtctcggccaacagaga	11	7	12	11	2	1	2	0	1	1	1	2	4	1	3	3	2	4	1	3	2	2	2			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr19:54403579G>A	ENST00000263431.3	+	12	1655		c.e12+1		PRKCG_ENST00000540413.1_Splice_Site|PRKCG_ENST00000542049.1_Splice_Site	NM_002739.3	NP_002730.1	P05129	KPCG_HUMAN	protein kinase C, gamma						activation of phospholipase C activity|cell death|intracellular signal transduction|negative regulation of protein catabolic process|negative regulation of protein ubiquitination|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of mismatch repair|synaptic transmission	cytosol	ATP binding|protein kinase C activity|zinc ion binding	p.?(1)		large_intestine(1)|lung(4)|ovary(2)|pancreas(2)|skin(1)	10	all_cancers(19;0.0462)|all_epithelial(19;0.0258)|all_lung(19;0.185)|Ovarian(34;0.19)|Lung NSC(19;0.218)			GBM - Glioblastoma multiforme(134;0.0521)		CCCATGCAGCGTGAGTCTCGG	0.597													A	54403579	G	A	54403579	5	1	706	1	0	0	0	0	0	0	1	0	12598	1159	40	1	1420	1	PRKCG	19	54403579	Splice_Site	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	45199479	54403579	4725404	51	54391											
PTPN1	5770	broad.mit.edu	37	chr20	49197836	49197836	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagttagaagtcgggtcGtggggggaagtcttcgaggt	8	10	18	5	3	1	2	0	1	1	1	4	4	1	3	0	5	0	1	0	5	4	2	rs138343840	byFrequency	TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr20:49197836G>T	ENST00000371621.3	+	9	1297	c.1123G>T	c.(1123-1125)Gtg>Ttg	p.V375L	PTPN1_ENST00000541713.1_Missense_Mutation_p.V302L	NM_001278618.1|NM_002827.2	NP_001265547.1|NP_002818.1	P18031	PTN1_HUMAN	protein tyrosine phosphatase, non-receptor type 1	375					blood coagulation|interferon-gamma-mediated signaling pathway|negative regulation of insulin receptor signaling pathway|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|type I interferon-mediated signaling pathway	cytosol|endoplasmic reticulum membrane	protein tyrosine phosphatase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(5)|skin(2)	16		Lung NSC(126;0.163)			Clodronate(DB00720)|Tiludronate(DB01133)	AAGTCGGGTCGTGGGGGGAAG	0.557													T	49197836	G	T	49197836	3	4	706	1	0	0	0	0	1	0	0	0	12865	1145	40	4	1157	4	PTPN1	20	49197836	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08		49197836	13827684	52	54392											
SON	6651	broad.mit.edu	37	chr21	34924118	34924118	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgttagcaactagctcaAtggattcccagatgttagca	13	11	9	8	0	1	2	1	0	0	2	2	3	2	3	1	1	4	5	1	1	5	4	rs142324795		TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr21:34924118A>G	ENST00000356577.4	+	3	3056	c.2581A>G	c.(2581-2583)Atg>Gtg	p.M861V	SON_ENST00000300278.4_Missense_Mutation_p.M861V|SON_ENST00000290239.6_Missense_Mutation_p.M861V|SON_ENST00000381692.2_Intron|SON_ENST00000381679.4_Missense_Mutation_p.M861V	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	861	17 X 10 AA tandem repeats of L-A-[ST]- [NSG]-[TS]-MDSQM.				anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						AACTAGCTCAATGGATTCCCA	0.493													G	34924118	A	G	34924118	3	3	706	1	0	0	0	0	1	0	0	0	15020	101	4	3	2591	3	SON	21	34924118	Missense_Mutation	SNP	A	TCGA-S9-A6UA-01A-12D-A33T-08		34924118	13205777	53	54393											
RAB36	9609	broad.mit.edu	37	chr22	23487582	23487582	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggtgcaagctggatgctTggacgcgccgctgccagtcc	5	7	15	14	4	0	0	0	0	0	0	1	2	1	2	4	3	4	4	4	3	1	1			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:23487582T>A	ENST00000263116.2	+	1	70	c.30T>A	c.(28-30)ctT>ctA	p.L10L	RAB36_ENST00000341989.4_Silent_p.L10L	NM_004914.2	NP_004905.2	O95755	RAB36_HUMAN	RAB36, member RAS oncogene family	10					protein transport|small GTPase mediated signal transduction	Golgi membrane	GTP binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_hematologic(9;0.0197)|Acute lymphoblastic leukemia(84;0.181)			READ - Rectum adenocarcinoma(21;0.155)		GCTGGATGCTTGGACGCGCCG	0.667													A	23487582	T	A	23487582	2	1	706	1	0	0	0	0	0	0	0	1	13014	1799	63	5		5	RAB36	22	23487582	Silent	SNP	T	TCGA-S9-A6UA-01A-12D-A33T-08		23487582	27816984	54	54394											
HPS4	89781	broad.mit.edu	37	chr22	26860001	26860001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgagccccatgcaggactctGctggtgtcagcctggagctg	6	8	14	13	1	2	0	1	0	1	0	2	3	2	2	3	3	5	3	3	3	0	0			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chr22:26860001G>A	ENST00000398145.2	-	11	2211	c.1595C>T	c.(1594-1596)gCa>gTa	p.A532V	HPS4_ENST00000398141.1_Missense_Mutation_p.A545V|HPS4_ENST00000336873.5_Missense_Mutation_p.A532V|HPS4_ENST00000402105.3_Missense_Mutation_p.A527V|HPS4_ENST00000493455.2_5'UTR	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	532					lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GCAGGACTCTGCTGGTGTCAG	0.607									Hermansky-Pudlak syndrome				A	26860001	G	A	26860001	3	1	706	1	0	0	0	0	1	0	0	0	7396	1319	46	2	547	2	HPS4	22	26860001	Missense_Mutation	SNP	G	TCGA-S9-A6UA-01A-12D-A33T-08	3372419	26860001	24444565	55	54395											
CLCN4	1183	broad.mit.edu	37	chrX	10176378	10176378	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gtcattgtggtgactgccatCactgccatcattgcctaccc	7	12	8	14	0	3	1	3	1	0	0	3	1	3	1	4	1	4	0	4	1	1	3			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:10176378C>T	ENST00000380833.4	+	9	1528	c.1137C>T	c.(1135-1137)atC>atT	p.I379I	CLCN4_ENST00000421085.2_Silent_p.I285I|CLCN4_ENST00000380829.1_Silent_p.I348I	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	379						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGACTGCCATCACTGCCATCA	0.582													T	10176378	C	T	10176378	2	4	706	1	0	0	0	0	0	0	0	1	3496	816	29	2		2	CLCN4	23	10176378	Silent	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08		10176378	145094182	56	54396											
ATRX	546	broad.mit.edu	37	chrX	76920268	76920268	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaagcatcttcttggcaattCttgagagtaaaaaacaataa	18	11	6	6	0	3	1	0	1	3	1	3	2	3	1	0	1	2	3	0	1	7	6			TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:76920268C>T	ENST00000373344.5	-	11	4024		c.e11-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	CTTGGCAATTCTTGAGAGTAA	0.303			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76920268	C	T	76920268	5	4	706	1	0	0	0	0	0	0	1	0	1213	927	32	2	3769	2	ATRX	23	76920268	Splice_Site	SNP	C	TCGA-S9-A6UA-01A-12D-A33T-08	66743890	76920268	78350292	57	54397											
RPL10	6134	broad.mit.edu	37	chrX	153627860	153627860	+	Frame_Shift_Del	DEL	A	A	-																															gcatttttgacctggggcggAaaaaggcaaaagtggatgag																										TCGA-S9-A6UA-01A-12D-A33T-08	TCGA-S9-A6UA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ea6c6d8a-c0e8-4c1b-83e1-a0851ab845ce	965e64ae-5bfb-4257-b38e-357df250f9f2	g.chrX:153627860delA	ENST00000424325.2	+	4	303	c.115delA	c.(115-117)aaafs	p.K40fs	RPL10_ENST00000406022.2_5'UTR|RPL10_ENST00000369817.2_Frame_Shift_Del_p.K40fs	NM_001256577.1|NM_001256580.1|NM_006013.3	NP_001243506.1|NP_001243509.1|NP_006004.2	P27635	RL10_HUMAN	ribosomal protein L10	40					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|endoplasmic reticulum	structural constituent of ribosome			large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CCTGGGGCGGAAAAAGGCAAA	0.512											OREG0019957	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	153627860	A	-	153627860	7	5	706	1	0	1	0	1	0	0	0	0	13645	247	9	0	125	0	RPL10	23	153627860	Frame_Shift_Del	DEL	A	TCGA-S9-A6UA-01A-12D-A33T-08	76707592	153627860	1642700	58	54398											
CDC73	79577	broad.mit.edu	37	chr1	193218979	193218979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatagaccagtgttcttaCggttttgggaaacattggac	10	13	12	6	1	1	1	0	0	1	1	1	4	1	4	1	4	2	2	1	4	3	6			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:193218979C>T	ENST00000367435.3	+	16	1721	c.1537C>T	c.(1537-1539)Cgg>Tgg	p.R513W	CDC73_ENST00000477868.1_3'UTR	NM_024529.4	NP_078805.3	Q6P1J9	CDC73_HUMAN	cell division cycle 73	513					cell cycle|histone H2B ubiquitination|histone monoubiquitination|transcription, DNA-dependent	Cdc73/Paf1 complex	protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(14)|ovary(1)|pancreas(1)|parathyroid(51)|skin(1)|upper_aerodigestive_tract(1)	87						AGTGTTCTTACGGTTTTGGGA	0.348													T	193218979	C	T	193218979	3	4	707	1	0	0	0	0	1	0	0	0	3115	527	19	1	1599	1	CDC73	1	193218979	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		193218979	56031642	1	54399											
TRAF5	7188	broad.mit.edu	37	chr1	211544684	211544684	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caagtcagcttggctagaagCtcaagtgcatcaattattac	13	11	8	9	0	3	1	3	0	0	1	3	1	3	1	0	1	4	4	0	1	7	4			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr1:211544684C>T	ENST00000336184.2	+	10	1031	c.971C>T	c.(970-972)gCt>gTt	p.A324V	TRAF5_ENST00000427925.2_Missense_Mutation_p.A218V|TRAF5_ENST00000367004.3_Missense_Mutation_p.A324V|TRAF5_ENST00000261464.5_Missense_Mutation_p.A324V	NM_004619.3	NP_004610.1	O00463	TRAF5_HUMAN	TNF receptor-associated factor 5	324					apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis	CD40 receptor complex|centrosome|internal side of plasma membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				OV - Ovarian serous cystadenocarcinoma(81;0.00946)|all cancers(67;0.0808)|Epithelial(68;0.144)		TGGCTAGAAGCTCAAGTGCAT	0.318													T	211544684	C	T	211544684	3	4	707	1	0	0	0	0	1	0	0	0	16545	797	28	2	1005	2	TRAF5	1	211544684	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	18325705	211544684	37705937	2	54400											
APOB	338	broad.mit.edu	37	chr2	21238368	21238368	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctggcttctgcttgcaaacGgggtatggaaataacaccct	10	11	10	10	1	2	0	0	0	2	0	2	1	2	1	1	4	4	4	1	4	4	4	rs72653076	byFrequency	TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:21238368G>A	ENST00000233242.1	-	22	3509	c.3382C>T	c.(3382-3384)Cgt>Tgt	p.R1128C		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1128			R -> H (in dbSNP:rs12713843).		cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GCTTGCAAACGGGGTATGGAA	0.453													A	21238368	G	A	21238368	3	1	707	1	0	0	0	0	1	0	0	0	788	1116	39	1	10341	1	APOB	2	21238368	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		21238368	221961005	3	54401											
KIF5C	3800	broad.mit.edu	37	chr2	149679717	149679717	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttttagcaagggaagccAtatgtcttcgacagagtgct	10	13	10	8	1	1	1	0	0	1	1	2	3	1	2	1	1	3	2	1	1	4	5			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:149679717A>G	ENST00000435030.1	+	2	506	c.138A>G	c.(136-138)ccA>ccG	p.P46P				O60282	KIF5C_HUMAN	kinesin family member 5C	46	Kinesin-motor.				microtubule-based movement|organelle organization	cytoplasm|kinesin complex|microtubule	ATP binding|microtubule motor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AAGGGAAGCCATATGTCTTCG	0.388													G	149679717	A	G	149679717	2	3	707	1	0	0	0	0	0	0	0	1	8365	204	8	3		3	KIF5C	2	149679717	Silent	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08	128441349	149679717	93519656	4	54402											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	707	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	59433395	209113112	34086261	5	54403											
GPR149	344758	broad.mit.edu	37	chr3	154146723	154146727	+	Frame_Shift_Del	DEL	TGGAG	TGGAG	-																															acgggaaatttcctggtagtTggagtggagtctcggcggct																										TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:154146723_154146727delTGGAG	ENST00000389740.2	-	1	777_781	c.678_682delCTCCA	c.(676-684)cactccaacfs	p.HSN226fs		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	226						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.S227S(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TCCTGGTAGTTGGAGTGGAGTCTCG	0.595													-	154146727	TGGAG	-	154146723	7	5	707	1	0	1	0	1	0	0	0	0	6708	1812	63	0	1529	0	GPR149	3	154146723	Frame_Shift_Del	DEL	TGGAG	TCGA-S9-A6UB-01A-21D-A33T-08		154146723	43875707	6	54404											
TRA2B	6434	broad.mit.edu	37	chr3	185637272	185637272	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctctccatcctcctcctccTccacctcctcctctgtgaag	4	12	4	21	0	2	1	0	1	2	0	10	1	9	1	9	0	0	1	9	0	1	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:185637272T>A	ENST00000453386.2	-	7	1010	c.735A>T	c.(733-735)ggA>ggT	p.G245G	TRA2B_ENST00000382191.4_Silent_p.G145G	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	245	Arg/Ser-rich (RS2 domain).				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						ctcctcctcctccacctcctc	0.393													A	185637272	T	A	185637272	2	1	707	1	0	0	0	0	0	0	0	1	16535	1538	54	5		5	TRA2B	3	185637272	Silent	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08	31490549	185637272	12385158	7	54405											
RNF168	165918	broad.mit.edu	37	chr3	196229932	196229932	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgacggtcgactggaagcacGgtttacacagcgtgtggtta	9	9	14	9	5	0	0	0	0	0	0	1	3	0	1	0	4	3	3	0	4	3	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr3:196229932G>A	ENST00000318037.3	-	1	707	c.113C>T	c.(112-114)cCg>cTg	p.P38L		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	38					double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	p.P38Q(1)		NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		CTGGAAGCACGGTTTACACAG	0.582													A	196229932	G	A	196229932	3	1	707	1	0	0	0	0	1	0	0	0	13550	1116	39	1	1626	1	RNF168	3	196229932	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	10592660	196229932	1792498	8	54406											
NIPBL	25836	broad.mit.edu	37	chr5	36962286	36962286	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccacagcaaaatagcccaGtgcctagtccatacgcccca	12	6	7	16	1	0	0	0	0	0	0	1	0	1	0	6	0	5	1	6	0	5	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:36962286G>A	ENST00000282516.8	+	6	1019	c.520G>A	c.(520-522)Gtg>Atg	p.V174M	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Missense_Mutation_p.V174M	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	174					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AAATAGCCCAGTGCCTAGTCC	0.438													A	36962286	G	A	36962286	3	1	707	1	0	0	0	0	1	0	0	0	10504	1029	36	2	538	2	NIPBL	5	36962286	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		36962286	143952974	9	54407											
ZNF366	167465	broad.mit.edu	37	chr5	71756109	71756109	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgtggttctgcagctggctCgggtactggaaggtcttgtc	5	13	15	8	1	2	0	0	0	2	0	4	1	2	1	0	5	3	5	0	5	2	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:71756109C>T	ENST00000318442.5	-	2	1705	c.1215G>A	c.(1213-1215)ccG>ccA	p.P405P		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	405					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GCAGCTGGCTCGGGTACTGGA	0.597													T	71756109	C	T	71756109	2	4	707	1	0	0	0	0	0	0	0	1	17971	871	31	1		1	ZNF366	5	71756109	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	34793823	71756109	109159151	10	54408											
PCDHA1	56147	broad.mit.edu	37	chr5	140167257	140167257	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcgcgcagcccgagtacaCagtattcgtgaaggagaaca	12	7	12	10	4	0	2	0	1	0	1	2	4	0	2	1	1	3	4	1	1	4	4			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:140167257C>T	ENST00000504120.2	+	1	1382	c.1382C>T	c.(1381-1383)aCa>aTa	p.T461I	PCDHA1_ENST00000394633.3_Missense_Mutation_p.T461I|PCDHA1_ENST00000378133.3_Missense_Mutation_p.T461I	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCGAGTACACAGTATTCGTG	0.672													T	140167257	C	T	140167257	3	4	707	1	0	0	0	0	1	0	0	0	11595	478	17	2	1384	2	PCDHA1	5	140167257	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	68411148	140167257	40748003	11	54409											
MAPK9	5601	broad.mit.edu	37	chr5	179674427	179674427	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catggcggggccaaggtcgcGgggaaggatacggtcagtgc	8	5	19	9	4	1	0	1	0	0	0	2	2	1	2	1	8	2	0	1	8	3	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr5:179674427G>A	ENST00000425491.2	-	7	866	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	MAPK9_ENST00000343111.6_Intron|MAPK9_ENST00000524170.1_Intron|MAPK9_ENST00000455781.1_Intron|MAPK9_ENST00000539014.1_3'UTR|MAPK9_ENST00000393360.3_Intron|MAPK9_ENST00000397072.3_Intron|MAPK9_ENST00000452135.2_Intron|MAPK9_ENST00000347470.4_Intron	NM_001135044.1	NP_001128516.1	P45984	MK09_HUMAN	mitogen-activated protein kinase 9	0	Protein kinase.				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of gene expression|positive regulation of macrophage derived foam cell differentiation|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|JUN kinase activity|protein binding			central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	all_cancers(89;6.54e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0236)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCAAGGTCGCGGGGAAGGATA	0.502													A	179674427	G	A	179674427	3	1	707	1	0	0	0	0	1	0	0	0	9362	1116	39	1	644	1	MAPK9	5	179674427	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	39507170	179674427	1240833	12	54410											
HIVEP1	3096	broad.mit.edu	37	chr6	12123517	12123517	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctccccagtttctttccaGgagctgaatagaacggggaa	10	9	11	11	1	1	2	0	1	1	1	3	4	3	4	4	3	2	2	4	3	4	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:12123517G>A	ENST00000379388.2	+	4	3821	c.3489G>A	c.(3487-3489)caG>caA	p.Q1163Q		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1163					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				TTTCTTTCCAGGAGCTGAATA	0.522													A	12123517	G	A	12123517	2	1	707	1	0	0	0	0	0	0	0	1	7241	991	35	2		2	HIVEP1	6	12123517	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		12123517	158991550	13	54411											
HIST1H2BA	255626	broad.mit.edu	37	chr6	25727377	25727377	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatagcgagcgaggcatcaCgtttggctcactacagcaag	11	8	12	10	3	2	0	2	0	0	0	2	2	2	0	0	2	4	5	0	2	4	4			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:25727377C>T	ENST00000274764.2	+	1	241	c.241C>T	c.(241-243)Cgt>Tgt	p.R81C		NM_170610.2	NP_733759.1	Q96A08	H2B1A_HUMAN	histone cluster 1, H2ba	81					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|kidney(1)	2						CGAGGCATCACGTTTGGCTCA	0.507													T	25727377	C	T	25727377	3	4	707	1	0	0	0	0	1	0	0	0	7195	536	19	1	243	1	HIST1H2BA	6	25727377	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	13603860	25727377	145387690	14	54412											
KIAA1586	57691	broad.mit.edu	37	chr6	56918978	56918979	+	Frame_Shift_Ins	INS	-	-	T																															aaaattgatcaaacgtaccaINStaagagctttggaaaattta																										TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:56918978_56918979insT	ENST00000370733.4	+	4	1888_1889	c.1681_1682insT	c.(1681-1683)atafs	p.I561fs	KIAA1586_ENST00000545356.1_Frame_Shift_Ins_p.I534fs	NM_020931.2	NP_065982.1	Q9HCI6	K1586_HUMAN	KIAA1586	561							nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|skin(1)	18	Lung NSC(77;0.0969)		LUSC - Lung squamous cell carcinoma(124;0.0785)|Lung(124;0.13)			CAAACGTACCATAAGAGCTTTG	0.267													T	56918979	-	T	56918978	7	5	707	1	0	1	1	0	0	0	0	0	8303	217	8	0	1695	0	KIAA1586	6	56918978	Frame_Shift_Ins	INS	-	TCGA-S9-A6UB-01A-21D-A33T-08	31191601	56918978	114196089	15	54413											
BVES	11149	broad.mit.edu	37	chr6	105573335	105573335	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctgcagcataagtttggcccTttttcaaggtttggatcatg	8	15	10	8	0	2	0	2	0	0	0	2	1	2	1	1	3	2	4	1	3	2	5			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr6:105573335T>C	ENST00000314641.5	-	4	686	c.470A>G	c.(469-471)aAg>aGg	p.K157R	BVES_ENST00000446408.2_Missense_Mutation_p.K157R|BVES_ENST00000336775.5_Missense_Mutation_p.K157R	NM_001199563.1	NP_001186492.1	Q8NE79	POPD1_HUMAN	blood vessel epicardial substance	157					epithelial cell-cell adhesion|muscle organ development|positive regulation of locomotion|positive regulation of receptor recycling|regulation of Cdc42 GTPase activity|regulation of cell shape|regulation of Rac GTPase activity|substrate adhesion-dependent cell spreading|vesicle-mediated transport	integral to membrane|lateral plasma membrane|tight junction	structural molecule activity	p.K157R(1)		NS(2)|large_intestine(6)|lung(9)|prostate(2)|skin(1)|urinary_tract(1)	21		all_cancers(87;2.83e-05)|Acute lymphoblastic leukemia(125;1.95e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0101)|Colorectal(196;0.204)|Lung NSC(302;0.238)				AGTTTGGCCCTTTTTCAAGGT	0.438													C	105573335	T	C	105573335	3	2	707	1	0	0	0	0	1	0	0	0	1585	1609	56	3	632	3	BVES	6	105573335	Missense_Mutation	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08	48654357	105573335	65541732	16	54414											
OR2A2	442361	broad.mit.edu	37	chr7	143806961	143806961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaccatctcctttgttccaTgcataatgcagacttttttg	9	16	6	10	0	1	1	0	0	1	1	3	2	2	1	3	0	3	3	3	0	2	6			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr7:143806961T>C	ENST00000408979.2	+	1	355	c.286T>C	c.(286-288)Tgc>Cgc	p.C96R		NM_001005480.2	NP_001005480.2	Q6IF42	OR2A2_HUMAN	olfactory receptor, family 2, subfamily A, member 2	96					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)|skin(4)	22	Melanoma(164;0.0783)					CTTTGTTCCATGCATAATGCA	0.433													C	143806961	T	C	143806961	3	2	707	1	0	0	0	0	1	0	0	0	11053	1464	51	3	288	3	OR2A2	7	143806961	Missense_Mutation	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08		143806961	15331702	17	54415											
OR13F1	138805	broad.mit.edu	37	chr9	107266930	107266930	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tatgtggccatctgcaacccCctgagataccctgtcatcat	9	11	7	14	0	3	1	2	1	1	1	3	2	3	1	4	1	3	1	4	1	3	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr9:107266930C>T	ENST00000334726.2	+	1	476	c.387C>T	c.(385-387)ccC>ccT	p.P129P		NM_001004485.1	NP_001004485.1	Q8NGS4	O13F1_HUMAN	olfactory receptor, family 13, subfamily F, member 1	129					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	31						TCTGCAACCCCCTGAGATACC	0.552													T	107266930	C	T	107266930	2	4	707	1	0	0	0	0	0	0	0	1	11017	610	22	2		2	OR13F1	9	107266930	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		107266930	33946501	18	54416											
TUBB8	347688	broad.mit.edu	37	chr10	93719	93719	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acatatgtcatacagagcttCgttatctatgcaaaaggtct	13	13	7	8	1	3	1	1	0	2	1	4	1	3	1	0	1	3	3	0	1	6	5			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:93719C>T	ENST00000447903.2	-	4	712	c.397G>A	c.(397-399)Gaa>Aaa	p.E133K	TUBB8_ENST00000332708.5_3'UTR|TUBB8_ENST00000309812.4_Missense_Mutation_p.E205K|TUBB8_ENST00000413237.3_5'UTR			Q3ZCM7	TBB8_HUMAN	tubulin, beta 8 class VIII	205					microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	p.E205K(1)		NS(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(12)|ovary(2)|prostate(3)|skin(3)|stomach(1)	32		all_cancers(4;0.00131)|all_lung(4;0.000777)|Lung NSC(4;0.0043)|all_epithelial(10;0.0154)|Colorectal(49;0.235)		Epithelial(11;0.00341)|all cancers(11;0.00922)|OV - Ovarian serous cystadenocarcinoma(14;0.0508)|Lung(33;0.132)		TACAGAGCTTCGTTATCTATG	0.537													T	93719	C	T	93719	3	4	707	1	0	0	0	0	1	0	0	0	16863	893	31	1	725	1	TUBB8	10	93719	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		93719	135441028	19	54417											
PFKP	5214	broad.mit.edu	37	chr10	3143689	3143689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggggacgggagcctcaccGgggccaacctcttccggaag	7	4	16	14	4	2	0	1	0	1	0	3	3	3	3	5	6	2	0	5	6	2	1	rs11542782		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:3143689G>A	ENST00000381075.2	+	6	597	c.373G>A	c.(373-375)Ggg>Agg	p.G125R	PFKP_ENST00000421751.1_3'UTR|PFKP_ENST00000381125.4_Missense_Mutation_p.G133R	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	133					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		GAGCCTCACCGGGGCCAACCT	0.667													A	3143689	G	A	3143689	3	1	707	1	0	0	0	0	1	0	0	0	11843	1116	39	1	411	1	PFKP	10	3143689	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	3049970	3143689	132391058	20	54418											
VCL	7414	broad.mit.edu	37	chr10	75877843	75877843	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tctgtgaaggagactgtgcgGgaagctgaagctgcttcaat	10	10	14	7	1	2	3	1	2	1	1	2	5	2	4	0	2	4	3	0	2	4	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:75877843G>A	ENST00000211998.4	+	22	3415	c.3321G>A	c.(3319-3321)cgG>cgA	p.R1107R	VCL_ENST00000417648.2_Silent_p.R300R|VCL_ENST00000372755.3_Silent_p.R1039R	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	1107	C-terminal tail.				adherens junction assembly|apical junction assembly|cell-matrix adhesion|cellular component movement|epithelial cell-cell adhesion|lamellipodium assembly|morphogenesis of an epithelium|muscle contraction|negative regulation of cell migration|platelet activation|platelet degranulation|protein localization at cell surface	costamere|cytosol|extracellular region|focal adhesion	actin binding|alpha-catenin binding|beta-catenin binding|beta-dystroglycan binding|cadherin binding|structural molecule activity		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGACTGTGCGGGAAGCTGAAG	0.522													A	75877843	G	A	75877843	2	1	707	1	0	0	0	0	0	0	0	1	17241	1219	43	2		2	VCL	10	75877843	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	72734154	75877843	59656904	21	54419											
ENTPD1	953	broad.mit.edu	37	chr10	97583115	97583115	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaaagcattgccagaaaaCgttaaggtaagtcaaatata	20	8	7	6	1	1	1	1	0	0	1	1	1	1	1	1	1	4	3	1	1	9	5			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr10:97583115C>T	ENST00000371207.3	+	2	237	c.174C>T	c.(172-174)aaC>aaT	p.N58N	ENTPD1_ENST00000543964.1_Intron|ENTPD1_ENST00000539125.1_5'UTR|ENTPD1_ENST00000371203.5_5'UTR|ENTPD1-AS1_ENST00000416301.1_RNA|ENTPD1_ENST00000490659.1_3'UTR|ENTPD1_ENST00000453258.2_Silent_p.N53N|ENTPD1_ENST00000371205.4_Silent_p.N46N	NM_001164178.1	NP_001157650.1	P49961	ENTP1_HUMAN	ectonucleoside triphosphate diphosphohydrolase 1	46				SS -> G (in Ref. 8; AA sequence).	cell adhesion	integral to plasma membrane	ATP binding			cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|prostate(1)|skin(1)	16		Colorectal(252;0.0821)		Epithelial(162;1.31e-07)|all cancers(201;5.33e-06)		TGCCAGAAAACGTTAAGGTAA	0.468													T	97583115	C	T	97583115	2	4	707	1	0	0	0	0	0	0	0	1	5179	535	19	1		1	ENTPD1	10	97583115	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	21705272	97583115	37951632	22	54420											
PHRF1	57661	broad.mit.edu	37	chr11	587410	587410	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaccaggccgtggggacGccggagaactgtgcccatta	10	5	15	11	3	0	2	0	0	0	2	0	5	0	3	4	4	2	0	4	4	2	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:587410G>A	ENST00000264555.5	+	4	494	c.366G>A	c.(364-366)acG>acA	p.T122T	PHRF1_ENST00000416188.2_Silent_p.T122T|PHRF1_ENST00000533464.1_Silent_p.T118T|PHRF1_ENST00000413872.2_Silent_p.T121T	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	122							RNA polymerase binding|zinc ion binding			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						CCGTGGGGACGCCGGAGAACT	0.557													A	587410	G	A	587410	2	1	707	1	0	0	0	0	0	0	0	1	11938	1074	38	1		1	PHRF1	11	587410	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		587410	134419106	23	54421											
MUC5B	727897	broad.mit.edu	37	chr11	1247990	1247990	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcctacgaggacttcaaCgtccagctacgccgaggcct	8	6	11	16	5	1	0	1	0	0	0	2	3	2	1	5	2	4	1	5	2	3	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:1247990C>T	ENST00000447027.1	+	4	403	c.345C>T	c.(343-345)aaC>aaT	p.N115N	MUC5B_ENST00000529681.1_Silent_p.N115N			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	115	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		AGGACTTCAACGTCCAGCTAC	0.632													T	1247990	C	T	1247990	2	4	707	1	0	0	0	0	0	0	0	1	10055	535	19	1		1	MUC5B	11	1247990	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	660580	1247990	133758526	24	54422											
GLYAT	10249	broad.mit.edu	37	chr11	58477535	58477535	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaaaggtctgaatgcagcGctcaatgaatctctggctcc	10	9	12	10	1	3	2	1	2	2	0	5	3	4	3	1	3	2	3	1	3	4	0	rs138125182		TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:58477535G>A	ENST00000344743.3	-	6	736	c.595C>T	c.(595-597)Cgc>Tgc	p.R199C	GLYAT_ENST00000529732.1_Missense_Mutation_p.R199C	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase	199					acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	TGAATGCAGCGCTCAATGAAT	0.502													A	58477535	G	A	58477535	3	1	707	1	0	0	0	0	1	0	0	0	6535	1087	38	1	299	1	GLYAT	11	58477535	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	57229545	58477535	76528981	25	54423											
ANO1	55107	broad.mit.edu	37	chr11	69957819	69957819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgtttttaaggcatcaCgagcctgctggccaatggtg	7	12	11	11	1	2	0	1	0	1	0	2	1	2	0	3	3	2	3	3	3	2	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:69957819C>T	ENST00000355303.5	+	7	1111	c.806C>T	c.(805-807)aCg>aTg	p.T269M	ANO1_ENST00000398543.2_Missense_Mutation_p.T153M|ANO1_ENST00000316296.5_Missense_Mutation_p.T241M|ANO1_ENST00000531349.1_Missense_Mutation_p.T4M|ANO1_ENST00000530676.1_Missense_Mutation_p.T153M|ANO1_ENST00000538023.1_Missense_Mutation_p.T269M	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	269					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						TAAGGCATCACGAGCCTGCTG	0.532													T	69957819	C	T	69957819	3	4	707	1	0	0	0	0	1	0	0	0	695	536	19	1	832	1	ANO1	11	69957819	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	11480284	69957819	65048697	26	54424											
FAT3	120114	broad.mit.edu	37	chr11	92087443	92087443	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttattcaattaatagacaggGaccatattttgacaagtctt	14	15	6	6	0	2	2	1	1	1	1	2	3	2	3	1	1	0	0	1	1	6	8			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:92087443G>A	ENST00000298047.6	+	1	2182	c.2165G>A	c.(2164-2166)gGa>gAa	p.G722E	FAT3_ENST00000409404.2_Missense_Mutation_p.G722E|FAT3_ENST00000541502.1_Missense_Mutation_p.G722E|FAT3_ENST00000525166.1_Missense_Mutation_p.G572E			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	722					homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				AATAGACAGGGACCATATTTT	0.398										TCGA Ovarian(4;0.039)			A	92087443	G	A	92087443	3	1	707	1	0	0	0	0	1	0	0	0	5740	1174	41	2	2167	2	FAT3	11	92087443	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	22129624	92087443	42919073	27	54425											
GPR83	10888	broad.mit.edu	37	chr11	94113633	94113633	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcattgttggtgcggatgacCttgctggacaggaggaggac	8	9	17	7	1	0	1	0	1	0	0	0	6	0	6	1	6	2	3	1	6	0	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:94113633C>T	ENST00000243673.2	-	4	1125	c.954G>A	c.(952-954)aaG>aaA	p.K318K	GPR83_ENST00000539203.2_Silent_p.K276K	NM_016540.3	NP_057624.3	Q9NYM4	GPR83_HUMAN	G protein-coupled receptor 83	318						integral to membrane|plasma membrane	neuropeptide Y receptor activity			NS(1)|breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)	19		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGCGGATGACCTTGCTGGACA	0.517													T	94113633	C	T	94113633	2	4	707	1	0	0	0	0	0	0	0	1	6767	680	24	2		2	GPR83	11	94113633	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	2026190	94113633	40892883	28	54426											
DPAGT1	1798	broad.mit.edu	37	chr11	118968694	118968694	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtcccaagatgcccaccacgGcaaaggtcatgccagcaaag	13	4	10	14	1	1	1	1	0	0	1	2	1	2	1	4	2	3	2	4	2	3	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:118968694G>A	ENST00000409993.2	-	8	2339	c.788C>T	c.(787-789)gCc>gTc	p.A263V	DPAGT1_ENST00000354202.4_Missense_Mutation_p.A263V|DPAGT1_ENST00000432443.2_Missense_Mutation_p.A156V			Q9H3H5	GPT_HUMAN	dolichyl-phosphate (UDP-N-acetylglucosamine) N-acetylglucosaminephosphotransferase 1 (GlcNAc-1-P transferase)	263					dolichol biosynthetic process|dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|protein oligomerization	integral to endoplasmic reticulum membrane|microsome	phospho-N-acetylmuramoyl-pentapeptide-transferase activity|transferase activity, transferring glycosyl groups|UDP-N-acetylglucosamine-dolichyl-phosphate N-acetylglucosaminephosphotransferase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(2)	17	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.55e-05)		GCCCACCACGGCAAAGGTCAT	0.532													A	118968694	G	A	118968694	3	1	707	1	0	0	0	0	1	0	0	0	4749	1203	42	2	454	2	DPAGT1	11	118968694	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	24855061	118968694	16037822	29	54427											
OR10G4	390264	broad.mit.edu	37	chr11	123887129	123887129	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgctgacgccccttctcaAccctgttgtgtacaccctga	6	12	8	15	1	1	2	1	2	1	0	2	2	1	2	4	0	3	3	4	0	2	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr11:123887129A>G	ENST00000320891.4	+	1	848	c.848A>G	c.(847-849)aAc>aGc	p.N283S		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	283					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		CCCCTTCTCAACCCTGTTGTG	0.458													G	123887129	A	G	123887129	3	3	707	1	0	0	0	0	1	0	0	0	10977	43	2	3	850	3	OR10G4	11	123887129	Missense_Mutation	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08	4918435	123887129	11119387	30	54428											
ABCC9	10060	broad.mit.edu	37	chr12	21997752	21997752	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgtggtgaagatttttgGcagctgtgagacccatccat	8	13	13	7	0	0	3	0	2	0	2	1	4	1	3	2	3	1	3	2	3	1	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:21997752G>C	ENST00000261200.4	-	25	3193	c.3194C>G	c.(3193-3195)gCc>gGc	p.A1065G	ABCC9_ENST00000261201.4_Missense_Mutation_p.A1065G|RP11-729I10.2_ENST00000539874.1_RNA|ABCC9_ENST00000345162.2_Missense_Mutation_p.A1029G	NM_020297.2	NP_064693.2	O60706	ABCC9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 9	1065	ABC transmembrane type-1 2.				defense response to virus|potassium ion import	ATP-sensitive potassium channel complex	ATP binding|ATPase activity, coupled to transmembrane movement of substances|potassium channel regulator activity|sulfonylurea receptor activity			NS(2)|breast(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|lung(56)|ovary(4)|pancreas(1)|prostate(4)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(5)	118					Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	AAGATTTTTGGCAGCTGTGAG	0.398													C	21997752	G	C	21997752	3	2	707	1	0	0	0	0	1	0	0	0	59	1203	42	4	1653	4	ABCC9	12	21997752	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		21997752	111854143	31	54429											
APPL2	55198	broad.mit.edu	37	chr12	105593272	105593272	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taattcttgctgggacacccGcatcttttccgcctcggctt	5	14	8	14	3	2	0	0	0	2	0	4	1	3	1	3	2	1	3	3	2	1	6			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:105593272G>A	ENST00000258530.3	-	10	967	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	APPL2_ENST00000539978.2_Missense_Mutation_p.R205W|APPL2_ENST00000551662.1_Missense_Mutation_p.R254W|APPL2_ENST00000549573.1_5'UTR	NM_001251904.1|NM_018171.3	NP_001238833.1|NP_060641.2	Q8NEU8	DP13B_HUMAN	adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 2	248	Required for RAB5A binding (By similarity).				cell cycle|cell proliferation|signal transduction	early endosome membrane|nucleus	protein binding			breast(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	33						TGGGACACCCGCATCTTTTCC	0.502													A	105593272	G	A	105593272	3	1	707	1	0	0	0	0	1	0	0	0	821	1086	38	1	1300	1	APPL2	12	105593272	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	83595520	105593272	28258623	32	54430											
WDR66	144406	broad.mit.edu	37	chr12	122399950	122399950	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacattcaccacaccgacCagggctgctatcccacctgc	9	7	8	17	1	1	0	1	0	0	0	2	2	2	1	5	2	2	2	5	2	1	2			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr12:122399950C>G	ENST00000288912.4	+	15	3228	c.2374C>G	c.(2374-2376)Cag>Gag	p.Q792E	WDR66_ENST00000545752.1_3'UTR|WDR66_ENST00000397454.2_Missense_Mutation_p.Q792E	NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	792							calcium ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		CCACACCGACCAGGGCTGCTA	0.512													G	122399950	C	G	122399950	3	3	707	1	0	0	0	0	1	0	0	0	17419	595	21	4	2428	4	WDR66	12	122399950	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	16806678	122399950	11451945	33	54431											
SPRY2	10253	broad.mit.edu	37	chr13	80911840	80911840	+	Translation_Start_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctgagctctggcctccaTcaggtcttggaagtgtggtc	6	12	12	11	0	4	1	1	1	3	0	6	2	5	2	2	4	1	1	2	4	1	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr13:80911840T>C	ENST00000377102.1	-	2	978	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	SPRY2_ENST00000540649.1_Start_Codon_SNP_p.M1V|SPRY2_ENST00000377104.3_Start_Codon_SNP_p.M1V			O43597	SPY2_HUMAN	sprouty homolog 2 (Drosophila)	1					epidermal growth factor receptor signaling pathway|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of gene expression|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein kinase B signaling cascade	cytosol|microtubule|ruffle membrane	protein serine/threonine kinase activator activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	12	Medulloblastoma(90;0.18)	Acute lymphoblastic leukemia(28;0.218)|Breast(118;0.244)		GBM - Glioblastoma multiforme(99;0.0318)		CTGGCCTCCATCAGGTCTTGG	0.587													C	80911840	T	C	80911840	1	2	707	1	0	0	0	0	0	0	0	0	15202	1435	50	3		3	SPRY2	13	80911840	Translation_Start_Site	SNP	T	TCGA-S9-A6UB-01A-21D-A33T-08		80911840	34258038	34	54432											
GPR18	2841	broad.mit.edu	37	chr13	99907196	99907196	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatcggaaactttttctgcGcatgcttcgaaggtaattac	11	13	9	8	3	1	1	0	0	1	1	3	3	1	2	0	2	4	3	0	2	4	5			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr13:99907196G>A	ENST00000340807.3	-	3	1487	c.931C>T	c.(931-933)Cgc>Tgc	p.R311C	UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.R311C|GPR18_ENST00000397473.2_Missense_Mutation_p.R311C|UBAC2_ENST00000403766.3_Intron			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	311						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	CTTTTTCTGCGCATGCTTCGA	0.378													A	99907196	G	A	99907196	3	1	707	1	0	0	0	0	1	0	0	0	6729	1087	38	1	68	1	GPR18	13	99907196	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	18995356	99907196	15262682	35	54433											
RGS6	9628	broad.mit.edu	37	chr14	72431532	72431532	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctcaaggatccggggatcaAagagcagtgggggttgctga	10	7	17	7	1	2	2	2	1	0	1	3	4	3	4	1	5	2	4	1	5	2	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr14:72431532A>G	ENST00000553530.1	+	2	231	c.24A>G	c.(22-24)caA>caG	p.Q8Q	RGS6_ENST00000343854.6_Silent_p.Q8Q|RGS6_ENST00000553525.1_Silent_p.Q8Q|RGS6_ENST00000555571.1_Silent_p.Q8Q|RGS6_ENST00000556437.1_Silent_p.Q8Q|RGS6_ENST00000404301.2_Silent_p.Q8Q|RGS6_ENST00000406236.4_Silent_p.Q8Q|RGS6_ENST00000407322.4_Silent_p.Q8Q|RGS6_ENST00000402788.2_Silent_p.Q8Q|RGS6_ENST00000355512.6_Silent_p.Q8Q	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	8					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		CCGGGGATCAAAGAGCAGTGG	0.478													G	72431532	A	G	72431532	2	3	707	1	0	0	0	0	0	0	0	1	13398	11	1	3		3	RGS6	14	72431532	Silent	SNP	A	TCGA-S9-A6UB-01A-21D-A33T-08		72431532	34918008	36	54434											
MSLN	10232	broad.mit.edu	37	chr16	815715	815715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgtggccgcgtggcggcaaCgctcctctcgggacccatcc	4	7	13	17	6	1	0	0	0	1	0	5	1	3	1	4	4	1	2	4	4	1	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:815715C>T	ENST00000566549.1	+	10	1237	c.820C>T	c.(820-822)Cgc>Tgc	p.R274C	MSLN_ENST00000382862.3_Missense_Mutation_p.R274C|MSLN_ENST00000563941.1_Missense_Mutation_p.R274C|MSLN_ENST00000545450.2_Missense_Mutation_p.R274C			Q13421	MSLN_HUMAN	mesothelin	274	Required for megakaryocyte-potentiating factor activity.				cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				GTGGCGGCAACGCTCCTCTCG	0.711													T	815715	C	T	815715	3	4	707	1	0	0	0	0	1	0	0	0	9957	536	19	1	854	1	MSLN	16	815715	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		815715	89539038	37	54435											
PPL	5493	broad.mit.edu	37	chr16	4934297	4934297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcatgctctcgcgcctgctgCgggtcctgctgcagcaccac	4	8	12	17	3	1	0	0	0	1	0	3	0	2	0	3	1	6	6	3	1	0	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr16:4934297C>T	ENST00000345988.2	-	22	4448	c.4359G>A	c.(4357-4359)ccG>ccA	p.P1453P	PPL_ENST00000590782.2_Silent_p.P1451P	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	1453					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						GCGCCTGCTGCGGGTCCTGCT	0.657													T	4934297	C	T	4934297	2	4	707	1	0	0	0	0	0	0	0	1	12416	755	27	1		1	PPL	16	4934297	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	4118582	4934297	85420456	38	54436											
GSG2	83903	broad.mit.edu	37	chr17	3627984	3627984	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctttggccttatgaactcagGaacccctgaggattctgagt	9	12	10	10	0	2	3	1	3	1	0	2	5	2	5	3	3	2	0	3	3	3	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:3627984G>A	ENST00000325418.4	+	1	774	c.755G>A	c.(754-756)gGa>gAa	p.G252E	ITGAE_ENST00000263087.4_Intron|ITGAE_ENST00000571185.1_5'UTR	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	252					cell cycle|chromatin modification|intracellular protein kinase cascade	nucleus	ATP binding|protein serine/threonine kinase activity										ATGAACTCAGGAACCCCTGAG	0.552													A	3627984	G	A	3627984	3	1	707	1	0	0	0	0	1	0	0	0	6877	1174	41	2	757	2	GSG2	17	3627984	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		3627984	77567226	39	54437											
AKAP1	8165	broad.mit.edu	37	chr17	55183906	55183906	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagtgatctcagaagcaaccGaacaggtgctggccaccacg	13	5	11	12	2	1	2	1	1	1	1	2	3	1	2	3	2	4	2	3	2	4	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:55183906G>A	ENST00000337714.3	+	2	1314	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	AKAP1_ENST00000314126.3_Missense_Mutation_p.E361K|AKAP1_ENST00000539273.1_Missense_Mutation_p.E361K|AKAP1_ENST00000571629.1_Missense_Mutation_p.E361K|AKAP1_ENST00000572557.1_Missense_Mutation_p.E361K	NM_003488.3	NP_003479.1	Q92667	AKAP1_HUMAN	A kinase (PRKA) anchor protein 1	361					blood coagulation	cytosol|integral to membrane|mitochondrial outer membrane	protein binding|RNA binding			endometrium(2)|liver(1)|lung(7)|ovary(2)|pancreas(1)|skin(1)	14	Breast(9;5.46e-08)					AGAAGCAACCGAACAGGTGCT	0.537													A	55183906	G	A	55183906	3	1	707	1	0	0	0	0	1	0	0	0	445	1059	37	1	1083	1	AKAP1	17	55183906	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	51555922	55183906	26011304	40	54438											
SLC16A3	9123	broad.mit.edu	37	chr17	80195354	80195354	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttacgccgtggccgcctcGgtcatggtgctggggctctt	2	12	14	13	4	2	0	1	0	1	0	3	0	2	0	3	5	2	2	3	5	1	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr17:80195354G>A	ENST00000581287.1	+	3	3030	c.708G>A	c.(706-708)tcG>tcA	p.S236S	SLC16A3_ENST00000582743.1_Silent_p.S236S|SLC16A3_ENST00000392339.1_Silent_p.S236S|SLC16A3_ENST00000392341.1_Silent_p.S236S	NM_001206951.1|NM_001206952.1	NP_001193880.1|NP_001193881.1	O15427	MOT4_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 3	236					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	actin cytoskeleton|integral to plasma membrane|membrane fraction|nuclear membrane	secondary active monocarboxylate transmembrane transporter activity|symporter activity			endometrium(2)|kidney(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9	Breast(20;0.00285)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.227)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0149)		Pyruvic acid(DB00119)	TGGCCGCCTCGGTCATGGTGC	0.716													A	80195354	G	A	80195354	2	1	707	1	0	0	0	0	0	0	0	1	14503	1103	39	1		1	SLC16A3	17	80195354	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	25011448	80195354	999856	41	54439											
EMR1	2015	broad.mit.edu	37	chr19	6928249	6928249	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaatactacaacagcctggcGaagtgtgttctgaaggagga	14	8	12	7	1	1	1	0	1	1	0	1	4	1	3	1	3	4	1	1	3	6	3			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:6928249G>A	ENST00000381404.4	+	16	2190	c.2160G>A	c.(2158-2160)gcG>gcA	p.A720A	EMR1_ENST00000250572.8_Intron|EMR1_ENST00000381407.5_Intron|EMR1_ENST00000450315.3_Intron|EMR1_ENST00000312053.4_Intron	NM_001256252.1	NP_001243181.1	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	763					cell adhesion|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					ACAGCCTGGCGAAGTGTGTTC	0.498													A	6928249	G	A	6928249	2	1	707	1	0	0	0	0	0	0	0	1	5145	1073	37	1		1	EMR1	19	6928249	Silent	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		6928249	52200734	42	54440											
ASF1B	55723	broad.mit.edu	37	chr19	14231314	14231314	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggaggaggccagggatgCagccagggagccccaagccc	10	1	17	13	0	0	0	0	0	0	0	0	4	0	4	5	5	4	1	5	5	1	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:14231314C>A	ENST00000263382.3	-	4	1065	c.566G>T	c.(565-567)tGc>tTc	p.C189F	ASF1B_ENST00000592798.1_Missense_Mutation_p.C130F	NM_018154.2	NP_060624.1	Q9NVP2	ASF1B_HUMAN	anti-silencing function 1B histone chaperone	189					cell differentiation|chromatin modification|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus				endometrium(2)|large_intestine(2)|lung(2)|ovary(1)	7						GCCAGGGATGCAGCCAGGGAG	0.642													A	14231314	C	A	14231314	3	1	707	1	0	0	0	0	1	0	0	0	1043	710	25	4	46	4	ASF1B	19	14231314	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	7303065	14231314	44897669	43	54441											
CIC	23152	broad.mit.edu	37	chr19	42792003	42792003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcccacccagattggaagtgGtgcaacaaggaccgaaagaa	15	4	12	10	1	0	2	0	0	0	2	0	5	0	4	3	3	2	1	3	3	5	1			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:42792003G>A	ENST00000572681.2	+	7	3602	c.3534G>A	c.(3532-3534)tgG>tgA	p.W1178*	CIC_ENST00000160740.3_Nonsense_Mutation_p.W269*|CIC_ENST00000575354.2_Nonsense_Mutation_p.W269*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	269	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				ATTGGAAGTGGTGCAACAAGG	0.632			"Mis, F, S"		oligodendroglioma								A	42792003	G	A	42792003	4	1	707	1	0	0	0	0	0	1	0	0	3454	1270	44	2	829	2	CIC	19	42792003	Nonsense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08	28560689	42792003	16336980	44	54442											
DHX34	9704	broad.mit.edu	37	chr19	47883203	47883203	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcagccccaaggaggtggcCaccctgagcaaggaactcct	10	5	12	14	0	1	1	1	1	0	0	2	3	2	3	5	4	3	1	5	4	3	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:47883203C>T	ENST00000328771.4	+	14	3292	c.2943C>T	c.(2941-2943)gcC>gcT	p.A981A		NM_014681.5	NP_055496.2	Q14147	DHX34_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 34	981						intracellular	ATP binding|ATP-dependent helicase activity|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(8)|ovary(5)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(25;1.65e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;7.16e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000489)|GBM - Glioblastoma multiforme(486;0.00413)|Epithelial(262;0.0132)		AGGAGGTGGCCACCCTGAGCA	0.662													T	47883203	C	T	47883203	2	4	707	1	0	0	0	0	0	0	0	1	4546	581	21	2		2	DHX34	19	47883203	Silent	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	5091200	47883203	11245780	45	54443											
U2AF2	11338	broad.mit.edu	37	chr19	56181020	56181020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaagtccatcgagatccccCggcctgtggacggcgtcgag	7	7	13	14	5	1	1	1	0	0	1	5	4	3	2	4	3	0	0	4	3	1	0			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr19:56181020C>T	ENST00000450554.2	+	11	2202	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	CTD-2537I9.12_ENST00000585940.1_RNA|U2AF2_ENST00000590551.1_Missense_Mutation_p.R251W|U2AF2_ENST00000308924.4_Missense_Mutation_p.R419W|CTD-2537I9.12_ENST00000589456.1_RNA	NM_001012478.1|NM_007279.2	NP_001012496.1|NP_009210.1	P26368	U2AF2_HUMAN	U2 small nuclear RNA auxiliary factor 2	419	RRM 3.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	nucleoplasm|spliceosomal complex	enzyme binding|nucleotide binding|RNA binding			biliary_tract(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(2)	21		Colorectal(82;0.00244)|Ovarian(87;0.133)	BRCA - Breast invasive adenocarcinoma(297;0.18)	GBM - Glioblastoma multiforme(193;0.107)		CGAGATCCCCCGGCCTGTGGA	0.657													T	56181020	C	T	56181020	3	4	707	1	0	0	0	0	1	0	0	0	16925	643	23	1	1297	1	U2AF2	19	56181020	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08	8297817	56181020	2947963	46	54444											
CSNK2A1	1457	broad.mit.edu	37	chr20	480554	480554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaaaatctttatttcacGcttaattttcttctttttta	9	22	1	9	1	4	0	1	0	3	0	5	0	5	0	1	0	0	1	1	0	5	10			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chr20:480554G>A	ENST00000217244.3	-	5	613	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C	CSNK2A1_ENST00000400227.3_Missense_Mutation_p.R80C|CSNK2A1_ENST00000349736.5_Missense_Mutation_p.R80C|CSNK2A1_ENST00000400217.2_5'UTR	NM_177559.2	NP_808227.1	P68400	CSK21_HUMAN	casein kinase 2, alpha 1 polypeptide	80	Protein kinase.				axon guidance|Wnt receptor signaling pathway	cytosol|NuRD complex|plasma membrane|Sin3 complex	ATP binding|protein N-terminus binding|protein serine/threonine kinase activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(2)|urinary_tract(1)	17		Breast(17;0.231)	OV - Ovarian serous cystadenocarcinoma(29;0.0969)			TTTATTTCACGCTTAATTTTC	0.343													A	480554	G	A	480554	3	1	707	1	0	0	0	0	1	0	0	0	3990	1087	38	1	977	1	CSNK2A1	20	480554	Missense_Mutation	SNP	G	TCGA-S9-A6UB-01A-21D-A33T-08		480554	62544966	47	54445											
SSX5	6758	broad.mit.edu	37	chrX	48053616	48053616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcattcccctggaagtctgCgacccgtttattacgcatga	9	12	8	12	3	2	1	1	1	1	0	3	3	3	2	3	1	2	2	3	1	3	4			TCGA-S9-A6UB-01A-21D-A33T-08	TCGA-S9-A6UB-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365dcb4e-892f-4f2d-ab03-c12d53456e44	f5d9c98d-0660-4659-b8b9-ccd4679de3f4	g.chrX:48053616C>T	ENST00000311798.1	-	5	404	c.352G>A	c.(352-354)Gca>Aca	p.A118T	SSX5_ENST00000376923.1_Missense_Mutation_p.A77T|SSX5_ENST00000347757.1_Missense_Mutation_p.A77T	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	77					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						TGGAAGTCTGCGACCCGTTTA	0.488													T	48053616	C	T	48053616	3	4	707	1	0	0	0	0	1	0	0	0	15304	768	27	1	353	1	SSX5	23	48053616	Missense_Mutation	SNP	C	TCGA-S9-A6UB-01A-21D-A33T-08		48053616	107216944	48	54446											
PCSK9	255738	broad.mit.edu	37	chr1	55523717	55523717	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgcaccaggcattgcaGccatgatgctgtctgccgag	7	8	11	15	1	1	1	0	1	1	0	1	2	1	1	5	1	5	4	5	1	0	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:55523717G>A	ENST00000302118.5	+	8	1479	c.1189G>A	c.(1189-1191)Gcc>Acc	p.A397T	PCSK9_ENST00000490692.1_3'UTR|PCSK9_ENST00000543384.1_Missense_Mutation_p.A197T	NM_174936.3	NP_777596.2	Q8NBP7	PCSK9_HUMAN	proprotein convertase subtilisin/kexin type 9	397	Peptidase S8.				cellular response to insulin stimulus|cellular response to starvation|cholesterol homeostasis|cholesterol metabolic process|kidney development|liver development|low-density lipoprotein particle receptor catabolic process|lysosomal transport|negative regulation of catalytic activity|negative regulation of low-density lipoprotein particle clearance|negative regulation of receptor recycling|neuron differentiation|positive regulation of neuron apoptosis|positive regulation of receptor internalization|protein autoprocessing|regulation of receptor activity	extracellular space|late endosome|lysosome|perinuclear region of cytoplasm	apolipoprotein receptor binding|identical protein binding|low-density lipoprotein particle receptor binding|serine-type endopeptidase activity|very-low-density lipoprotein particle receptor binding			NS(2)|breast(2)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(1)|liver(2)|lung(4)|ovary(3)|prostate(3)|skin(1)|urinary_tract(1)	32						AGGCATTGCAGCCATGATGCT	0.602													A	55523717	G	A	55523717	3	1	708	1	0	0	0	0	1	0	0	0	11682	971	34	2	1219	2	PCSK9	1	55523717	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		55523717	193726904	1	54447											
KCNK2	3776	broad.mit.edu	37	chr1	215408391	215408391	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgaccagcgagagggatgTcttgcctcccttactgaaga	9	9	11	12	1	1	4	0	2	1	2	2	6	2	5	4	1	3	0	4	1	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408391T>G	ENST00000444842.2	+	7	1334	c.1184T>G	c.(1183-1185)gTc>gGc	p.V395G	KCNK2_ENST00000391895.2_Missense_Mutation_p.V391G|KCNK2_ENST00000391894.2_Missense_Mutation_p.V380G	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	395	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GAGAGGGATGTCTTGCCTCCC	0.512													G	215408391	T	G	215408391	3	3	708	1	0	0	0	0	1	0	0	0	8124	1667	58	5	1253	5	KCNK2	1	215408391	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	159884674	215408391	33842230	2	54448			1	86		2	2	30	N	T_A	5.058543e-05
KCNK2	3776	broad.mit.edu	37	chr1	215408420	215408420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccttactgaagactgagagtAtctatctgaatggtttgacg	11	13	10	7	1	2	5	0	4	2	2	2	6	2	5	1	1	1	2	1	1	5	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr1:215408420A>T	ENST00000444842.2	+	7	1363	c.1213A>T	c.(1213-1215)Atc>Ttc	p.I405F	KCNK2_ENST00000391895.2_Missense_Mutation_p.I401F|KCNK2_ENST00000391894.2_Missense_Mutation_p.I390F	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	405	Essential for chloroform and halothane sensitivity (By similarity).|Required for basal channel activity (By similarity).						outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	GACTGAGAGTATCTATCTGAA	0.473													T	215408420	A	T	215408420	3	4	708	1	0	0	0	0	1	0	0	0	8124	449	16	5	1282	5	KCNK2	1	215408420	Missense_Mutation	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08	29	215408420	33842201	3	54449			1	86		2	2	30	N	T_A	5.058543e-05
TGOLN2	10618	broad.mit.edu	37	chr2	85554633	85554633	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggggtgtcttctggggtctgCgcctccgcactcgacttgct	2	12	14	13	3	3	0	0	0	3	0	5	1	4	0	2	4	2	2	2	4	0	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:85554633C>T	ENST00000377386.3	-	2	684	c.222G>A	c.(220-222)gcG>gcA	p.A74A	TGOLN2_ENST00000409232.3_Silent_p.A74A|TGOLN2_ENST00000409015.1_Silent_p.A74A|TGOLN2_ENST00000444342.2_Silent_p.A74A|TGOLN2_ENST00000282120.2_Intron|TGOLN2_ENST00000398263.2_Silent_p.A74A			O43493	TGON2_HUMAN	trans-golgi network protein 2	74	14 X 14 AA tandem repeats.			A -> P (in Ref. 4; BAD96783).		integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										CTGGGGTCTGCGCCTCCGCAC	0.607													T	85554633	C	T	85554633	2	4	708	1	0	0	0	0	0	0	0	1	15936	755	27	1		1	TGOLN2	2	85554633	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		85554633	157644740	4	54450											
GLI2	2736	broad.mit.edu	37	chr2	121685032	121685032	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgagcctcattctgtccacGgtgtgcacgggtaagtcctg	7	10	12	12	3	2	0	1	0	1	0	4	1	4	0	3	2	2	2	3	2	1	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:121685032G>A	ENST00000314490.11	+	0	274				GLI2_ENST00000435313.2_3'UTR|GLI2_ENST00000361492.4_Missense_Mutation_p.G82S|GLI2_ENST00000452319.1_Missense_Mutation_p.G82S			P10070	GLI2_HUMAN	GLI family zinc finger 2						axon guidance|branching morphogenesis of a tube|cell proliferation|cerebellar cortex morphogenesis|developmental growth|embryonic digestive tract development|epidermal cell differentiation|floor plate formation|heart development|hindgut morphogenesis|kidney development|lung development|negative regulation of transcription from RNA polymerase II promoter|odontogenesis of dentine-containing tooth|osteoblast development|osteoblast differentiation|pituitary gland development|positive regulation of DNA replication|positive regulation of T cell differentiation in thymus|positive regulation of transcription from RNA polymerase II promoter|proximal/distal pattern formation|skeletal system development|smoothened signaling pathway involved in ventral spinal cord interneuron specification|spinal cord ventral commissure morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|lung(24)|ovary(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(3;0.0496)	Prostate(154;0.0623)				TTCTGTCCACGGTGTGCACGG	0.622													A	121685032	G	A	121685032	1	1	708	1	0	0	0	0	0	0	0	0	6494	1116	39	1		1	GLI2	2	121685032	Translation_Start_Site	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	36130399	121685032	121514341	5	54451											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	708	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	87428080	209113112	34086261	6	54452											
IRS1	3667	broad.mit.edu	37	chr2	227662549	227662549	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatgctctcagtgcgtgaTcggcgggtcagccccacctg	5	9	14	13	3	2	2	2	2	1	0	4	2	2	2	3	2	3	1	3	2	0	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:227662549T>G	ENST00000305123.5	-	1	1926	c.906A>C	c.(904-906)cgA>cgC	p.R302R		NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1		Ser-rich.				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		CAGTGCGTGATCGGCGGGTCA	0.682											OREG0015248	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	227662549	T	G	227662549	2	3	708	1	0	0	0	0	0	0	0	1	7898	1422	50	5		5	IRS1	2	227662549	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	18549437	227662549	15536824	7	54453											
AGAP1	116987	broad.mit.edu	37	chr2	236708060	236708060	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctattcctcctccgttccatCgactcccagcaccagccaga	8	9	5	19	2	0	1	0	0	0	1	6	2	5	1	7	0	2	2	7	0	1	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr2:236708060C>T	ENST00000304032.8	+	8	1431	c.851C>T	c.(850-852)tCg>tTg	p.S284L	AGAP1_ENST00000428334.2_Missense_Mutation_p.S123L|AGAP1_ENST00000409457.1_Missense_Mutation_p.S284L|AGAP1_ENST00000409538.1_Missense_Mutation_p.S549L|AGAP1_ENST00000336665.5_Missense_Mutation_p.S284L	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1						protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TCCGTTCCATCGACTCCCAGC	0.517													T	236708060	C	T	236708060	3	4	708	1	0	0	0	0	1	0	0	0	366	893	31	1	881	1	AGAP1	2	236708060	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	9045511	236708060	6491313	8	54454											
OSBPL10	114884	broad.mit.edu	37	chr3	31774883	31774883	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggaatgtgacttggaccCgtgccatcccaggatgtttt	7	13	12	9	1	0	1	0	1	0	0	1	4	1	4	3	3	1	1	3	3	1	3	rs143778028		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:31774883C>T	ENST00000396556.2	-	6	1083	c.961G>A	c.(961-963)Ggg>Agg	p.G321R	OSBPL10_ENST00000438237.2_Missense_Mutation_p.G257R|OSBPL10_ENST00000467647.1_5'UTR	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	321					lipid transport		lipid binding	p.G321W(2)		breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GACTTGGACCCGTGCCATCCC	0.413													T	31774883	C	T	31774883	3	4	708	1	0	0	0	0	1	0	0	0	11351	652	23	1	1361	1	OSBPL10	3	31774883	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		31774883	166247547	9	54455											
TRANK1	9881	broad.mit.edu	37	chr3	36896948	36896948	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgggagcaccctgagcttcGacagcctccgggatatgttg	8	9	13	11	2	0	1	0	1	0	0	2	4	1	3	3	2	3	3	3	2	1	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36896948G>A	ENST00000429976.2	-	12	4380	c.4133C>T	c.(4132-4134)tCg>tTg	p.S1378L	TRANK1_ENST00000428977.2_Missense_Mutation_p.S828L|TRANK1_ENST00000301807.6_Missense_Mutation_p.S828L	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1378					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						CCTGAGCTTCGACAGCCTCCG	0.488													A	36896948	G	A	36896948	3	1	708	1	0	0	0	0	1	0	0	0	16555	1059	37	1	4692	1	TRANK1	3	36896948	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	5122065	36896948	161125482	10	54456											
TRANK1	9881	broad.mit.edu	37	chr3	36899337	36899337	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtgcatctttgccctcttTgttcttcagattgaagttga	6	17	8	10	1	4	3	1	2	3	1	4	3	4	3	2	0	2	3	2	0	1	6			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:36899337T>C	ENST00000429976.2	-	12	1991	c.1744A>G	c.(1744-1746)Aaa>Gaa	p.K582E	TRANK1_ENST00000428977.2_Missense_Mutation_p.K32E|TRANK1_ENST00000301807.6_Missense_Mutation_p.K32E	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	582					DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						TTGCCCTCTTTGTTCTTCAGA	0.512													C	36899337	T	C	36899337	3	2	708	1	0	0	0	0	1	0	0	0	16555	1821	63	3	7081	3	TRANK1	3	36899337	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	2389	36899337	161123093	11	54457											
MCCC1	56922	broad.mit.edu	37	chr3	182804549	182804549	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtagctctgctgggagggagCggggccgatggaatatgctt	7	9	18	7	2	1	0	0	0	1	0	1	4	1	3	1	5	4	4	1	5	3	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr3:182804549C>T	ENST00000265594.4	-	4	447	c.301G>A	c.(301-303)Gct>Act	p.A101T	MCCC1_ENST00000492597.1_5'UTR|MCCC1_ENST00000539926.1_Intron	NM_020166.3	NP_064551.3	Q96RQ3	MCCA_HUMAN	methylcrotonoyl-CoA carboxylase 1 (alpha)	101	Biotin carboxylation.				biotin metabolic process|leucine catabolic process	mitochondrial inner membrane|mitochondrial matrix	ATP binding|biotin binding|biotin carboxylase activity|metal ion binding|methylcrotonoyl-CoA carboxylase activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(17)|ovary(1)|pancreas(2)|prostate(1)|skin(2)	40	all_cancers(143;1.84e-14)|Ovarian(172;0.0355)		all cancers(12;1.8e-44)|Epithelial(37;3.23e-38)|LUSC - Lung squamous cell carcinoma(7;5.04e-25)|Lung(8;5.03e-23)|OV - Ovarian serous cystadenocarcinoma(80;5.07e-21)		Biotin(DB00121)	TGGGAGGGAGCGGGGCCGATG	0.453													T	182804549	C	T	182804549	3	4	708	1	0	0	0	0	1	0	0	0	9449	768	27	1	1940	1	MCCC1	3	182804549	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	145905212	182804549	15217881	12	54458											
EPHA5	2044	broad.mit.edu	37	chr4	66213865	66213865	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagacatcactggcagaagtAaactttcggaaagctattgc	14	9	9	9	1	1	2	1	0	0	2	2	3	1	3	0	2	3	3	0	2	5	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:66213865A>G	ENST00000273854.3	-	15	3165	c.2565T>C	c.(2563-2565)ttT>ttC	p.F855F	EPHA5_ENST00000432638.2_Silent_p.F692F|EPHA5_ENST00000354839.4_Silent_p.F833F|EPHA5_ENST00000511294.1_Silent_p.F856F	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	855	Protein kinase.				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						TGGCAGAAGTAAACTTTCGGA	0.388										TSP Lung(17;0.13)			G	66213865	A	G	66213865	2	3	708	1	0	0	0	0	0	0	0	1	5211	359	13	3		3	EPHA5	4	66213865	Silent	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08		66213865	124940411	13	54459											
DDX60	55601	broad.mit.edu	37	chr4	169183842	169183842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	attattatttacctgggcccGaggccaacttttccaaattt	10	15	6	10	1	0	0	0	0	0	0	1	1	1	0	4	2	2	0	4	2	5	7			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr4:169183842G>A	ENST00000393743.3	-	23	3427	c.3136C>T	c.(3136-3138)Cgg>Tgg	p.R1046W	DDX60_ENST00000505393.1_5'UTR	NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1046							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ACCTGGGCCCGAGGCCAACTT	0.378													A	169183842	G	A	169183842	3	1	708	1	0	0	0	0	1	0	0	0	4412	1057	37	1	2066	1	DDX60	4	169183842	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	102969977	169183842	21970434	14	54460											
TRIO	7204	broad.mit.edu	37	chr5	14485191	14485191	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttaaggtgagttgcctttGcctggaggaaaatgtggaaa	11	13	13	4	0	0	1	0	1	0	0	0	4	0	4	2	4	2	1	2	4	4	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:14485191G>C	ENST00000344204.4	+	47	6695	c.6671G>C	c.(6670-6672)tGc>tCc	p.C2224S	TRIO_ENST00000537187.1_Missense_Mutation_p.C2224S	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	2224	PH 2.				apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine phosphatase signaling pathway	cytosol	ATP binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					AGTTGCCTTTGCCTGGAGGAA	0.408													C	14485191	G	C	14485191	3	2	708	1	0	0	0	0	1	0	0	0	16653	1319	46	4	6857	4	TRIO	5	14485191	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		14485191	166430069	15	54461											
C7	730	broad.mit.edu	37	chr5	40959677	40959677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatcctgcgttggagaaaCgacagaaagcacacaatgcg	15	5	12	9	3	0	3	0	0	0	3	1	6	1	3	1	1	4	2	1	1	3	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:40959677C>T	ENST00000313164.9	+	12	1975	c.1616C>T	c.(1615-1617)aCg>aTg	p.T539M		NM_000587.2	NP_000578.2	P10643	CO7_HUMAN	complement component 7	539	TSP type-1 2.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	extracellular region|membrane attack complex		p.T539M(1)					Ovarian(839;0.0112)				GTTGGAGAAACGACAGAAAGC	0.542													T	40959677	C	T	40959677	3	4	708	1	0	0	0	0	1	0	0	0	2399	536	19	1	1662	1	C7	5	40959677	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	26474486	40959677	139955583	16	54462											
ST8SIA4	7903	broad.mit.edu	37	chr5	100222198	100222198	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatcatgagaaatgtttaGtgtccggcgcctgtcaagca	11	11	11	8	2	2	2	2	1	0	2	3	3	3	2	2	1	1	2	2	1	4	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:100222198G>A	ENST00000231461.5	-	3	662	c.352C>T	c.(352-354)Cta>Tta	p.L118L	ST8SIA4_ENST00000507360.2_5'UTR|ST8SIA4_ENST00000451528.2_Silent_p.L118L	NM_005668.4	NP_005659.1	Q92187	SIA8D_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 4	118					axon guidance|N-glycan processing	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)	25		all_cancers(142;1.5e-07)|all_epithelial(76;1.43e-10)|Prostate(80;0.000644)|Lung NSC(167;0.0059)|all_lung(232;0.00914)|Ovarian(225;0.024)|Colorectal(57;0.09)|Breast(839;0.203)		COAD - Colon adenocarcinoma(37;0.00402)		GAAATGTTTAGTGTCCGGCGC	0.438													A	100222198	G	A	100222198	2	1	708	1	0	0	0	0	0	0	0	1	15330	1020	36	2		2	ST8SIA4	5	100222198	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	59262521	100222198	80693062	17	54463											
NR3C1	2908	broad.mit.edu	37	chr5	142780104	142780104	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgctgtgggaatcccaggtCatttcccatcacttttgttt	6	16	8	11	0	2	0	2	0	0	0	4	1	4	1	2	2	1	2	2	2	1	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:142780104C>T	ENST00000343796.2	-	2	1294	c.301G>A	c.(301-303)Gac>Aac	p.D101N	NR3C1_ENST00000503201.1_Missense_Mutation_p.D101N|NR3C1_ENST00000415690.2_Missense_Mutation_p.D101N|NR3C1_ENST00000416954.2_Intron|NR3C1_ENST00000504572.1_Missense_Mutation_p.D101N|NR3C1_ENST00000424646.2_Missense_Mutation_p.D101N|NR3C1_ENST00000231509.3_Missense_Mutation_p.D101N|NR3C1_ENST00000394464.2_Missense_Mutation_p.D101N|NR3C1_ENST00000394466.2_Missense_Mutation_p.D101N	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	101	Modulating.				chromatin modification|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to protein stimulus|transcription from RNA polymerase II promoter	mitochondrial matrix|nucleoplasm	glucocorticoid receptor activity|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Amcinonide(DB00288)|Betamethasone(DB00443)|Budesonide(DB01222)|Dexamethasone(DB01234)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluticasone Propionate(DB00588)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol Etabonate(DB00873)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Prednisone(DB00635)	AATCCCAGGTCATTTCCCATC	0.483													T	142780104	C	T	142780104	3	4	708	1	0	0	0	0	1	0	0	0	10706	826	29	2	2119	2	NR3C1	5	142780104	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	42557906	142780104	38135156	18	54464											
SLC6A7	6534	broad.mit.edu	37	chr5	149583555	149583555	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaggcggtgttctcagggcTcatctgcgtggccatgtacc	6	10	14	11	2	3	0	2	0	2	0	4	1	3	0	2	4	2	3	2	4	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr5:149583555T>G	ENST00000230671.2	+	10	1657	c.1286T>G	c.(1285-1287)cTc>cGc	p.L429R	SLC6A7_ENST00000524041.1_Missense_Mutation_p.L429R	NM_014228.3	NP_055043.2	Q99884	SC6A7_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 7	429						integral to plasma membrane|membrane fraction	neurotransmitter:sodium symporter activity|proline:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|liver(1)|lung(4)|skin(1)|stomach(1)	16		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		L-Proline(DB00172)	TTCTCAGGGCTCATCTGCGTG	0.582													G	149583555	T	G	149583555	3	3	708	1	0	0	0	0	1	0	0	0	14783	1551	54	5	1324	5	SLC6A7	5	149583555	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	6803451	149583555	31331705	19	54465											
HIVEP1	3096	broad.mit.edu	37	chr6	12124098	12124098	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaatactctgaatgttcCtggatgtcaccgggaaatga	11	12	10	8	1	2	3	1	3	1	0	3	5	3	5	2	2	1	1	2	2	4	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:12124098C>A	ENST00000379388.2	+	4	4402	c.4070C>A	c.(4069-4071)cCt>cAt	p.P1357H		NM_002114.2	NP_002105.2	P15822	ZEP1_HUMAN	human immunodeficiency virus type I enhancer binding protein 1	1357					transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(11)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	90	Breast(50;0.0639)|Ovarian(93;0.0816)	all_hematologic(90;0.117)				CTGAATGTTCCTGGATGTCAC	0.428													A	12124098	C	A	12124098	3	1	708	1	0	0	0	0	1	0	0	0	7241	681	24	4	4080	4	HIVEP1	6	12124098	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		12124098	158990969	20	54466											
LRRC16A	55604	broad.mit.edu	37	chr6	25605088	25605088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttccagcccagctttgAgcggcgtagaacggtcggat	8	10	12	11	4	1	2	0	1	1	1	3	3	2	3	2	3	4	2	2	3	2	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:25605088A>G	ENST00000329474.6	+	34	3969	c.3601A>G	c.(3601-3603)Agc>Ggc	p.S1201G		NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1201					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CCCAGCTTTGAGCGGCGTAGA	0.493													G	25605088	A	G	25605088	3	3	708	1	0	0	0	0	1	0	0	0	9041	304	11	3	3735	3	LRRC16A	6	25605088	Missense_Mutation	SNP	A	TCGA-S9-A6WD-01A-12D-A33T-08	13480990	25605088	145509979	21	54467											
ZNF292	23036	broad.mit.edu	37	chr6	87966803	87966806	+	Frame_Shift_Del	DEL	GTTT	GTTT	-																															aatacaccaaataatggaaaGtttgtttattttttgccatc																										TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:87966803_87966806delGTTT	ENST00000369577.3	+	8	3499_3502	c.3456_3459delGTTT	c.(3454-3459)aagtttfs	p.KF1152fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.KF1147fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1152					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		ATAATGGAAAGTTTGTTTATTTTT	0.402													-	87966806	GTTT	-	87966803	7	5	708	1	0	1	0	1	0	0	0	0	17927	1020	36	0	3486	0	ZNF292	6	87966803	Frame_Shift_Del	DEL	GTTT	TCGA-S9-A6WD-01A-12D-A33T-08	62361715	87966803	83148264	22	54468											
SYNE1	23345	broad.mit.edu	37	chr6	152772223	152772223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcactgccttcctggggcaTcagcttggtctctcgatcca	5	13	9	14	1	3	0	2	0	1	0	7	1	5	0	3	3	2	2	3	3	0	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr6:152772223T>A	ENST00000367255.5	-	26	3746	c.3145A>T	c.(3145-3147)Atg>Ttg	p.M1049L	SYNE1_ENST00000367253.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000423061.1_Missense_Mutation_p.M1056L|SYNE1_ENST00000413186.2_Missense_Mutation_p.M1049L|SYNE1_ENST00000341594.5_Missense_Mutation_p.M1115L|SYNE1_ENST00000367248.3_Missense_Mutation_p.M1039L|SYNE1_ENST00000265368.4_Missense_Mutation_p.M1049L|SYNE1_ENST00000448038.1_Missense_Mutation_p.M1056L	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	1049					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)		TCCTGGGGCATCAGCTTGGTC	0.453										HNSCC(10;0.0054)			A	152772223	T	A	152772223	3	1	708	1	0	0	0	0	1	0	0	0	15542	1435	50	5	23805	5	SYNE1	6	152772223	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	64805420	152772223	18342844	23	54469											
MUC17	140453	broad.mit.edu	37	chr7	100676201	100676201	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgaagttaacagcatgCcaacctcaactcctagtgaa	13	9	7	12	0	1	2	1	2	0	0	2	2	2	2	3	0	6	3	3	0	6	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:100676201C>T	ENST00000306151.4	+	3	1568	c.1504C>T	c.(1504-1506)Cca>Tca	p.P502S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	502	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)					TAACAGCATGCCAACCTCAAC	0.493													T	100676201	C	T	100676201	3	4	708	1	0	0	0	0	1	0	0	0	10050	739	26	2	1514	2	MUC17	7	100676201	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		100676201	58462462	24	54470											
MOGAT3	346606	broad.mit.edu	37	chr7	100839216	100839216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggctcagcgaaaggcCgcggccaggcctagatgaag	10	4	16	11	3	2	2	2	1	0	1	2	3	2	2	3	5	1	1	3	5	3	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:100839216C>T	ENST00000379423.3	-	6	894	c.834G>A	c.(832-834)gcG>gcA	p.A278A	MOGAT3_ENST00000223114.4_3'UTR|MOGAT3_ENST00000440203.2_3'UTR			Q86VF5	MOGT3_HUMAN	monoacylglycerol O-acyltransferase 3	0					glycerol metabolic process|lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	2-acylglycerol O-acyltransferase activity|diacylglycerol O-acyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(3)	22	Lung NSC(181;0.168)|all_lung(186;0.215)					AGCGAAAGGCCGCGGCCAGGC	0.627													T	100839216	C	T	100839216	2	4	708	1	0	0	0	0	0	0	0	1	9772	667	23	1		1	MOGAT3	7	100839216	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	163015	100839216	58299447	25	54471											
CADPS2	93664	broad.mit.edu	37	chr7	122261562	122261562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgaatgacagtaccacgtcGgactttgacagctgaatctc	11	10	10	10	2	1	4	0	4	1	0	3	5	1	5	1	1	2	2	1	1	3	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr7:122261562G>A	ENST00000334010.7	-	5	1498	c.1077C>T	c.(1075-1077)tcC>tcT	p.S359S	CADPS2_ENST00000313070.7_Silent_p.S359S|CADPS2_ENST00000449022.2_Silent_p.S359S|CADPS2_ENST00000412584.2_Silent_p.S359S	NM_001167940.1	NP_001161412.1	Q86UW7	CAPS2_HUMAN	Ca++-dependent secretion activator 2	359					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|synapse	lipid binding|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(26)|ovary(2)	43						GTACCACGTCGGACTTTGACA	0.393													A	122261562	G	A	122261562	2	1	708	1	0	0	0	0	0	0	0	1	2597	1103	39	1		1	CADPS2	7	122261562	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	21422346	122261562	36877101	26	54472											
PRKDC	5591	broad.mit.edu	37	chr8	48715931	48715931	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccctgggaccggctccgGcagtggctcaggcggcagta	6	5	16	14	3	1	0	1	0	0	0	2	1	2	1	3	6	1	5	3	6	1	1			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:48715931G>A	ENST00000314191.2	-	71	9911	c.9855C>T	c.(9853-9855)tgC>tgT	p.C3285C	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Silent_p.C3285C	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3286	FAT.				cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				ACCGGCTCCGGCAGTGGCTCA	0.512								Non-homologous end-joining					A	48715931	G	A	48715931	2	1	708	1	0	0	0	0	0	0	0	1	12607	1195	42	2		2	PRKDC	8	48715931	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		48715931	97648091	27	54473											
ATP6V1H	51606	broad.mit.edu	37	chr8	54723771	54723771	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacagcaacaccgctaccacGcagtttctattacgaaataa	16	8	5	12	3	1	0	0	0	1	0	1	1	1	0	2	0	5	4	2	0	7	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:54723771G>A	ENST00000359530.2	-	7	795	c.532C>T	c.(532-534)Cgt>Tgt	p.R178C	ATP6V1H_ENST00000396774.2_Missense_Mutation_p.R178C|ATP6V1H_ENST00000355221.3_Intron|ATP6V1H_ENST00000520188.1_Missense_Mutation_p.R138C	NM_015941.3	NP_057025.2	Q9UI12	VATH_HUMAN	ATPase, H+ transporting, lysosomal 50/57kDa, V1 subunit H	178					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|endocytosis|insulin receptor signaling pathway|interspecies interaction between organisms|regulation of defense response to virus by virus|transferrin transport|vacuolar acidification|viral reproduction	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase, V1 domain	enzyme regulator activity|protein binding|proton-transporting ATPase activity, rotational mechanism			endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|urinary_tract(1)	18		all_epithelial(80;0.0487)|Lung NSC(129;0.109)|all_lung(136;0.181)	OV - Ovarian serous cystadenocarcinoma(7;2.79e-06)|Epithelial(17;0.000629)|all cancers(17;0.00359)			CCGCTACCACGCAGTTTCTAT	0.343													A	54723771	G	A	54723771	3	1	708	1	0	0	0	0	1	0	0	0	1194	1087	38	1	951	1	ATP6V1H	8	54723771	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6007840	54723771	91640251	28	54474											
TRIM55	84675	broad.mit.edu	37	chr8	67039513	67039513	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcgaggagatgagcgcaTctctgaattacaaatctttt	13	11	9	8	2	2	3	0	2	2	1	3	5	2	3	0	1	3	1	0	1	3	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:67039513T>C	ENST00000315962.4	+	1	383	c.10T>C	c.(10-12)Tct>Cct	p.S4P	TRIM55_ENST00000350034.4_Missense_Mutation_p.S4P|TRIM55_ENST00000353317.5_Missense_Mutation_p.S4P|TRIM55_ENST00000276573.7_Missense_Mutation_p.S4P	NM_184085.1	NP_908973.1	Q9BYV6	TRI55_HUMAN	tripartite motif containing 55	4						cytoplasm|microtubule|nucleus	signal transducer activity|zinc ion binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(13)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	39		Lung NSC(129;0.138)|all_lung(136;0.221)	Epithelial(68;0.0136)|all cancers(69;0.0582)|BRCA - Breast invasive adenocarcinoma(89;0.0628)|OV - Ovarian serous cystadenocarcinoma(28;0.0904)			GATGAGCGCATCTCTGAATTA	0.483													C	67039513	T	C	67039513	3	2	708	1	0	0	0	0	1	0	0	0	16630	1435	50	3	12	3	TRIM55	8	67039513	Missense_Mutation	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	12315742	67039513	79324509	29	54475											
SULF1	23213	broad.mit.edu	37	chr8	70541854	70541854	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agggggaagagtgcagcctgCctggcctcacttgcttcacg	7	8	14	12	1	2	1	2	0	0	1	2	2	2	2	3	3	4	2	3	3	1	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:70541854C>T	ENST00000260128.4	+	19	2941	c.2224C>T	c.(2224-2226)Cct>Tct	p.P742S	SULF1_ENST00000402687.4_Missense_Mutation_p.P742S|SULF1_ENST00000521946.1_3'UTR|SULF1_ENST00000419716.3_Missense_Mutation_p.P742S|SULF1_ENST00000458141.2_Missense_Mutation_p.P742S	NM_015170.2	NP_055985.2	Q8IWU6	SULF1_HUMAN	sulfatase 1	742					apoptosis|bone development|heparan sulfate proteoglycan metabolic process|kidney development|negative regulation of fibroblast growth factor receptor signaling pathway	cell surface|endoplasmic reticulum|extracellular space|Golgi stack	arylsulfatase activity|calcium ion binding			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	Breast(64;0.0654)		Epithelial(68;0.0124)|OV - Ovarian serous cystadenocarcinoma(28;0.0265)|all cancers(69;0.0534)			GTGCAGCCTGCCTGGCCTCAC	0.537													T	70541854	C	T	70541854	3	4	708	1	0	0	0	0	1	0	0	0	15466	739	26	2	2282	2	SULF1	8	70541854	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	3502341	70541854	75822168	30	54476											
KCNB2	9312	broad.mit.edu	37	chr8	73480200	73480200	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagagcctcctggaagtgtgCgacgactataatctgaacga	12	8	12	9	3	1	2	0	1	1	1	2	7	2	3	2	1	3	0	2	1	4	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr8:73480200C>T	ENST00000523207.1	+	2	819	c.231C>T	c.(229-231)tgC>tgT	p.C77C		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	77					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TGGAAGTGTGCGACGACTATA	0.522													T	73480200	C	T	73480200	2	4	708	1	0	0	0	0	0	0	0	1	8071	776	27	1		1	KCNB2	8	73480200	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	2938346	73480200	72883822	31	54477											
TMEM72	643236	broad.mit.edu	37	chr10	45430279	45430279	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacactttccatggggccctCaaggaggggcccagctccct	7	8	11	15	0	1	0	1	0	0	0	3	1	3	1	4	5	2	1	4	5	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:45430279C>G	ENST00000544540.1	+	4	655	c.171C>G	c.(169-171)ctC>ctG	p.L57L	TMEM72-AS1_ENST00000450287.2_RNA			A0PK05	TMM72_HUMAN	transmembrane protein 72	175						integral to membrane				breast(2)|kidney(1)|large_intestine(2)|lung(10)	15						ATGGGGCCCTCAAGGAGGGGC	0.602													G	45430279	C	G	45430279	2	3	708	1	0	0	0	0	0	0	0	1	16301	813	29	4		4	TMEM72	10	45430279	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		45430279	90104468	32	54478											
GLUD1	2746	broad.mit.edu	37	chr10	88836407	88836407	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcacatcagtgctgtaaCggatacctggtggtgttttt	8	14	10	9	1	2	0	2	0	0	0	2	1	2	1	1	3	3	3	1	3	2	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr10:88836407C>T	ENST00000277865.4	-	2	548	c.452G>A	c.(451-453)cGt>cAt	p.R151H	GLUD1_ENST00000537649.1_5'UTR|GLUD1_ENST00000544149.1_Missense_Mutation_p.R18H	NM_005271.3	NP_005262.1	P00367	DHE3_HUMAN	glutamate dehydrogenase 1	151					glutamate biosynthetic process|glutamate catabolic process|positive regulation of insulin secretion	mitochondrial matrix	ADP binding|ATP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|identical protein binding|leucine binding|NAD+ binding			endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(11)|prostate(1)	22					L-Glutamic Acid(DB00142)|NADH(DB00157)	AGTGCTGTAACGGATACCTGG	0.403													T	88836407	C	T	88836407	3	4	708	1	0	0	0	0	1	0	0	0	6532	536	19	1	1272	1	GLUD1	10	88836407	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	43406128	88836407	46698340	33	54479											
CAT	847	broad.mit.edu	37	chr11	34475370	34475370	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctttcttgttcagtgatcGggggattccagatggacatc	7	15	11	8	1	3	2	1	1	2	1	6	4	4	4	1	3	0	1	1	3	0	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:34475370G>A	ENST00000241052.4	+	6	697	c.608G>A	c.(607-609)cGg>cAg	p.R203Q		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	203					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TTCAGTGATCGGGGGATTCCA	0.343													A	34475370	G	A	34475370	3	1	708	1	0	0	0	0	1	0	0	0	2712	1116	39	1	630	1	CAT	11	34475370	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		34475370	100531146	34	54480											
PTPRJ	5795	broad.mit.edu	37	chr11	48146663	48146663	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgggttagagcctggcaccCgatacaatgccaccgtttat	9	10	10	12	3	0	1	0	0	0	1	1	2	0	1	4	2	3	3	4	2	4	4	rs142177730		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr11:48146663C>A	ENST00000418331.2	+	6	1370	c.1018C>A	c.(1018-1020)Cga>Aga	p.R340R	PTPRJ_ENST00000440289.2_Silent_p.R340R	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	340	Fibronectin type-III 3.				contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GCCTGGCACCCGATACAATGC	0.562													A	48146663	C	A	48146663	2	1	708	1	0	0	0	0	0	0	0	1	12892	644	23	4		4	PTPRJ	11	48146663	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	13671293	48146663	86859853	35	54481											
ITGBL1	9358	broad.mit.edu	37	chr13	102227854	102227854	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaaattttgtgagtgtgaCgatagagaatgcatagacga	14	11	13	3	2	0	4	0	2	0	2	0	7	0	4	0	1	1	2	0	1	5	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:102227854C>T	ENST00000376180.3	+	4	762	c.543C>T	c.(541-543)gaC>gaT	p.D181D	ITGBL1_ENST00000545560.2_Silent_p.D40D|ITGBL1_ENST00000376162.3_Silent_p.D88D	NM_001271756.1|NM_004791.1	NP_001258685.1|NP_004782.1	O95965	ITGBL_HUMAN	integrin, beta-like 1 (with EGF-like repeat domains)	181	Cysteine-rich tandem repeats.				cell-matrix adhesion|integrin-mediated signaling pathway	extracellular region|integrin complex	binding|receptor activity			breast(1)|large_intestine(6)|lung(16)|ovary(1)|prostate(4)|skin(3)	31	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTGAGTGTGACGATAGAGAAT	0.348													T	102227854	C	T	102227854	2	4	708	1	0	0	0	0	0	0	0	1	7960	535	19	1		1	ITGBL1	13	102227854	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		102227854	12942024	36	54482											
ARGLU1	55082	broad.mit.edu	37	chr13	107219953	107219955	+	In_Frame_Del	DEL	CTC	CTC	-																															cgctcgaactccgctttcttCtcctcctcctctcgcttctg																										TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr13:107219953_107219955delCTC	ENST00000400198.3	-	1	557_559	c.313_315delGAG	c.(313-315)gagdel	p.E105del		NM_018011.3	NP_060481.3	Q9NWB6	ARGL1_HUMAN	arginine and glutamate rich 1	105	Glu-rich.									large_intestine(1)|lung(5)|pancreas(1)	7	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGCTTTCTTCTCCTCCTCCTCT	0.714													-	107219955	CTC	-	107219953	7	5	708	1	0	1	0	1	0	0	0	0	863	912	32	0	522	0	ARGLU1	13	107219953	In_Frame_Del	DEL	CTC	TCGA-S9-A6WD-01A-12D-A33T-08	4992099	107219953	7949925	37	54483											
UBR7	55148	broad.mit.edu	37	chr14	93693343	93693345	+	In_Frame_Del	DEL	AGA	AGA	-																															aagagtttcagtcaaaaaagAgaagaagagtggatgggatg																										TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr14:93693343_93693345delAGA	ENST00000013070.6	+	11	1476_1478	c.1240_1242delAGA	c.(1240-1242)agadel	p.R416del	UBR7_ENST00000416753.1_In_Frame_Del_p.R340del	NM_175748.3	NP_786924.2	Q8N806	UBR7_HUMAN	ubiquitin protein ligase E3 component n-recognin 7 (putative)	416							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|endometrium(2)|large_intestine(2)|lung(12)|urinary_tract(1)	19						GTCAAAAAAGAGAAGAAGAGTGG	0.374													-	93693345	AGA	-	93693343	7	5	708	1	0	1	0	1	0	0	0	0	17008	296	11	0	1282	0	UBR7	14	93693343	In_Frame_Del	DEL	AGA	TCGA-S9-A6WD-01A-12D-A33T-08		93693343	13656197	38	54484											
CYP11A1	1583	broad.mit.edu	37	chr15	74637578	74637578	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggtctttcttccaggctgcCgacttcctgagaaaacatgg	8	11	10	12	2	2	1	0	1	2	1	4	3	4	1	3	3	2	1	3	3	2	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr15:74637578C>T	ENST00000268053.6	-	3	586	c.432G>A	c.(430-432)tcG>tcA	p.S144S	CYP11A1_ENST00000358632.4_5'UTR|CYP11A1_ENST00000541301.1_Intron|CYP11A1_ENST00000419019.2_5'UTR	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	144					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	TCCAGGCTGCCGACTTCCTGA	0.582													T	74637578	C	T	74637578	2	4	708	1	0	0	0	0	0	0	0	1	4177	639	23	1		1	CYP11A1	15	74637578	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		74637578	27893814	39	54485											
MPG	4350	broad.mit.edu	37	chr16	135641	135641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctggagcccagtgagccGgctgtagtggcagcagcccg	6	5	15	15	2	0	1	0	1	0	0	0	2	0	2	5	3	4	4	5	3	1	1	rs140510538		TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:135641G>A	ENST00000219431.4	+	5	993	c.762G>A	c.(760-762)ccG>ccA	p.P254P	MPG_ENST00000397817.1_Silent_p.P237P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	254					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				CCAGTGAGCCGGCTGTAGTGG	0.667								Base excision repair (BER), DNA glycosylases					A	135641	G	A	135641	2	1	708	1	0	0	0	0	0	0	0	1	9800	1103	39	1		1	MPG	16	135641	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		135641	90219112	40	54486											
SNX29	92017	broad.mit.edu	37	chr16	12662399	12662399	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggagagcctgtgaacagccgGcccaaagcagcttcccgctt	9	6	12	14	2	0	2	0	1	0	1	1	3	1	2	4	2	5	3	4	2	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:12662399G>A	ENST00000566228.1	+	21	2424	c.2355G>A	c.(2353-2355)cgG>cgA	p.R785R	SNX29_ENST00000306030.3_Silent_p.R400R|CTD-3037G24.3_ENST00000564505.1_RNA	NM_032167.3	NP_115543.3	Q8TEQ0	SNX29_HUMAN	sorting nexin 29	400					cell communication		phosphatidylinositol binding			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	7						TGAACAGCCGGCCCAAAGCAG	0.622													A	12662399	G	A	12662399	2	1	708	1	0	0	0	0	0	0	0	1	14992	1190	42	2		2	SNX29	16	12662399	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	12526758	12662399	77692354	41	54487											
IGSF6	10261	broad.mit.edu	37	chr16	21658503	21658503	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtttagctctcgcttcCggcacactggggaatgctat	6	13	11	11	2	2	0	0	0	2	0	4	1	3	1	1	3	2	5	1	3	3	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:21658503C>T	ENST00000268389.4	-	2	439	c.378G>A	c.(376-378)ccG>ccA	p.P126P	METTL9_ENST00000358154.3_Intron|METTL9_ENST00000396014.4_Intron	NM_005849.3	NP_005840.2	O95976	IGSF6_HUMAN	immunoglobulin superfamily, member 6	126	Ig-like C2-type.				cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7				GBM - Glioblastoma multiforme(48;0.066)		CTCTCGCTTCCGGCACACTGG	0.488													T	21658503	C	T	21658503	2	4	708	1	0	0	0	0	0	0	0	1	7661	639	23	1		1	IGSF6	16	21658503	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	8996104	21658503	68696250	42	54488											
GSG1L	146395	broad.mit.edu	37	chr16	27856321	27856321	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtctccagtcctcaggaccGaggctcacggtgacctggaa	8	7	13	13	2	3	1	2	1	1	0	5	4	4	3	4	5	0	1	4	5	1	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:27856321G>A	ENST00000380898.2	-	4	696	c.147C>T	c.(145-147)ctC>ctT	p.L49L	GSG1L_ENST00000395724.3_Silent_p.L153L|GSG1L_ENST00000447459.2_Silent_p.L204L|GSG1L_ENST00000380897.3_Silent_p.L49L|GSG1L_ENST00000569166.1_Silent_p.L49L			Q6UXU4	GSG1L_HUMAN	GSG1-like	204						integral to membrane				endometrium(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(4)	17						CCTCAGGACCGAGGCTCACGG	0.602													A	27856321	G	A	27856321	2	1	708	1	0	0	0	0	0	0	0	1	6876	1045	37	1		1	GSG1L	16	27856321	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6197818	27856321	62498432	43	54489											
COG4	25839	broad.mit.edu	37	chr16	70546310	70546310	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctcagcttcctgcagcaaTttcaggttggcatcaatcat	9	13	8	11	0	4	0	4	0	0	0	5	0	5	0	1	2	4	6	1	2	2	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr16:70546310T>C	ENST00000323786.5	-	5	591	c.570A>G	c.(568-570)aaA>aaG	p.K190K	COG4_ENST00000564653.1_Intron|COG4_ENST00000393612.4_Silent_p.K186K	NM_001195139.1|NM_015386.2	NP_001182068.1|NP_056201.2	Q9H9E3	COG4_HUMAN	component of oligomeric golgi complex 4	186					Golgi organization|Golgi vesicle prefusion complex stabilization|protein transport|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(12)|pancreas(1)|prostate(2)	33		Ovarian(137;0.0694)				CCTGCAGCAATTTCAGGTTGG	0.478													C	70546310	T	C	70546310	2	2	708	1	0	0	0	0	0	0	0	1	3691	1490	52	3		3	COG4	16	70546310	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08	42689989	70546310	19808443	44	54490											
EPX	8288	broad.mit.edu	37	chr17	56270829	56270829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacagttgttcgggccGcagattatatgcatgtggct	8	11	13	9	2	0	1	0	0	0	1	1	2	0	2	2	3	1	5	2	3	2	4			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr17:56270829G>A	ENST00000225371.5	+	3	378	c.268G>A	c.(268-270)Gca>Aca	p.A90T		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	90					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						TGTTCGGGCCGCAGATTATAT	0.572													A	56270829	G	A	56270829	3	1	708	1	0	0	0	0	1	0	0	0	5241	1087	38	1	278	1	EPX	17	56270829	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		56270829	24924381	45	54491											
DSC1	1823	broad.mit.edu	37	chr18	28710645	28710645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtcttcacaatgtttatgCtcctcatcttgtccacacaa	10	15	4	12	0	4	0	2	0	2	0	6	0	6	0	2	0	1	2	2	0	4	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr18:28710645C>T	ENST00000257198.5	-	16	2778	c.2517G>A	c.(2515-2517)gaG>gaA	p.E839E	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257197.3_3'UTR	NM_024421.2	NP_077739.1	Q08554	DSC1_HUMAN	desmocollin 1	839					homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			AATGTTTATGCTCCTCATCTT	0.388													T	28710645	C	T	28710645	2	4	708	1	0	0	0	0	0	0	0	1	4804	796	28	2		2	DSC1	18	28710645	Silent	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08		28710645	49366603	46	54492											
HMHA1	23526	broad.mit.edu	37	chr19	1080922	1080922	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcatgacccccgagctgccGgtggccgtgcccagtggacc	5	5	15	16	3	0	1	0	1	0	0	0	3	0	2	6	4	3	2	6	4	0	0			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:1080922G>A	ENST00000313093.2	+	17	2280	c.2049G>A	c.(2047-2049)ccG>ccA	p.P683P	HMHA1_ENST00000543365.1_Silent_p.P566P|HMHA1_ENST00000590577.1_Silent_p.P318P|HMHA1_ENST00000539243.2_Silent_p.P699P|HMHA1_ENST00000536472.1_Silent_p.P551P|HMHA1_ENST00000590214.1_Silent_p.P710P|HMHA1_ENST00000586866.1_Silent_p.P687P	NM_012292.3	NP_036424.2	Q92619	HMHA1_HUMAN	histocompatibility (minor) HA-1	683					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(7)|ovary(1)|prostate(2)	16		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCGAGCTGCCGGTGGCCGTGC	0.701													A	1080922	G	A	1080922	2	1	708	1	0	0	0	0	0	0	0	1	7295	1103	39	1		1	HMHA1	19	1080922	Silent	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08		1080922	58048061	47	54493											
INSR	3643	broad.mit.edu	37	chr19	7267448	7267448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttgcccttcgcggtacccGgacagatgtctccacactcc	6	10	8	17	3	2	1	0	0	2	1	5	2	3	2	4	2	2	1	4	2	1	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:7267448G>A	ENST00000341500.5	-	2	599	c.560C>T	c.(559-561)cCg>cTg	p.P187L	INSR_ENST00000302850.5_Missense_Mutation_p.P187L	NM_001079817.1	NP_001073285.1	P06213	INSR_HUMAN	insulin receptor	187	Cys-rich.				activation of MAPK activity|activation of protein kinase B activity|carbohydrate metabolic process|fibroblast growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|glucose homeostasis|heart morphogenesis|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of developmental growth|positive regulation of DNA replication|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of glycolysis|positive regulation of MAPKKK cascade|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of protein kinase B signaling cascade|positive regulation of protein phosphorylation|positive regulation of respiratory burst|protein autophosphorylation|protein heterotetramerization|regulation of embryonic development|regulation of transcription, DNA-dependent|transformation of host cell by virus	caveola|endosome membrane|insulin receptor complex|microsome	ATP binding|GTP binding|insulin binding|insulin receptor activity|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor II binding|insulin-like growth factor receptor binding|metal ion binding|phosphatidylinositol 3-kinase binding|PTB domain binding|receptor signaling protein tyrosine kinase activity|SH2 domain binding	p.P187L(4)		breast(1)|central_nervous_system(4)|endometrium(6)|kidney(2)|large_intestine(13)|lung(25)|ovary(4)|prostate(4)|skin(3)|stomach(2)|urinary_tract(2)	66					Insulin Glargine recombinant(DB00047)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	CGCGGTACCCGGACAGATGTC	0.537													A	7267448	G	A	7267448	3	1	708	1	0	0	0	0	1	0	0	0	7831	1116	39	1	3672	1	INSR	19	7267448	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6186526	7267448	51861535	48	54494											
IL27RA	9466	broad.mit.edu	37	chr19	14157003	14157003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgagctacaaagtctGgttctgggttggaggtcgtg	7	11	17	6	1	2	1	0	1	2	0	3	2	2	2	0	5	2	4	0	5	2	3			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:14157003G>A	ENST00000263379.2	+	7	931	c.806G>A	c.(805-807)tGg>tAg	p.W269*		NM_004843.3	NP_004834.1	Q6UWB1	I27RA_HUMAN	interleukin 27 receptor, alpha	269					cell surface receptor linked signaling pathway|immune response	integral to plasma membrane	transmembrane receptor activity			breast(3)|endometrium(3)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	26						TACAAAGTCTGGTTCTGGGTT	0.552													A	14157003	G	A	14157003	4	1	708	1	0	0	0	0	0	1	0	0	7739	1357	47	2	832	2	IL27RA	19	14157003	Nonsense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	6889555	14157003	44971980	49	54495											
ZNF737	100129842	broad.mit.edu	37	chr19	20728053	20728053	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggggtgcttaaaggctttgCcacattcttcacatttgtag	9	14	10	8	0	2	0	1	0	1	0	2	0	2	0	1	3	2	3	1	3	3	6			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:20728053C>T	ENST00000427401.4	-	4	1050	c.956G>A	c.(955-957)gGc>gAc	p.G319D		NM_001159293.1	NP_001152765.1	C9JHM3	C9JHM3_HUMAN	zinc finger protein 737	319					regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding			breast(2)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						AAAGGCTTTGCCACATTCTTC	0.418													T	20728053	C	T	20728053	3	4	708	1	0	0	0	0	1	0	0	0	18226	739	26	2	658	2	ZNF737	19	20728053	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	6571050	20728053	38400930	50	54496											
CIC	23152	broad.mit.edu	37	chr19	42799051	42799051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctgcagttgaagatccGtgaggtgcgccagaagatca	10	10	13	8	2	2	5	1	2	1	3	3	5	3	5	2	1	2	2	2	1	2	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:42799051G>A	ENST00000572681.2	+	21	7321	c.7253G>A	c.(7252-7254)cGt>cAt	p.R2418H	CIC_ENST00000575354.2_Missense_Mutation_p.R1512H|CIC_ENST00000160740.3_Missense_Mutation_p.R1510H			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1512					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTGAAGATCCGTGAGGTGCGC	0.627			"Mis, F, S"		oligodendroglioma								A	42799051	G	A	42799051	3	1	708	1	0	0	0	0	1	0	0	0	3454	1145	40	1	4613	1	CIC	19	42799051	Missense_Mutation	SNP	G	TCGA-S9-A6WD-01A-12D-A33T-08	22070998	42799051	16329932	51	54497											
ZFP28	140612	broad.mit.edu	37	chr19	57066157	57066157	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acagcatcagaaaacccataCaggagagaaaccatatgagt	19	5	8	9	0	1	3	1	1	0	2	1	5	1	4	2	1	4	1	2	1	5	2			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr19:57066157C>A	ENST00000301318.3	+	8	2074	c.2003C>A	c.(2002-2004)aCa>aAa	p.T668K	AC007228.11_ENST00000596587.1_RNA	NM_020828.1	NP_065879.1	Q8NHY6	ZFP28_HUMAN	ZFP28 zinc finger protein	668					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(14)|lung(6)|ovary(1)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	35		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0302)		AAAACCCATACAGGAGAGAAA	0.463													A	57066157	C	A	57066157	3	1	708	1	0	0	0	0	1	0	0	0	17743	478	17	4	2033	4	ZFP28	19	57066157	Missense_Mutation	SNP	C	TCGA-S9-A6WD-01A-12D-A33T-08	14267106	57066157	2062826	52	54498											
HSPA13	6782	broad.mit.edu	37	chr21	15750617	15750617	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaactggcattccaagataTgcctctgccatttcctttaa	10	13	6	12	0	1	1	0	0	1	1	3	1	3	1	4	1	3	2	4	1	4	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chr21:15750617T>C	ENST00000285667.3	-	3	550	c.483A>G	c.(481-483)gcA>gcG	p.A161A	HSPA13_ENST00000544452.1_Intron	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	161						endoplasmic reticulum|microsome	ATP binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						TTCCAAGATATGCCTCTGCCA	0.408													C	15750617	T	C	15750617	2	2	708	1	0	0	0	0	0	0	0	1	7463	1451	51	3		3	HSPA13	21	15750617	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08		15750617	32379278	53	54499											
FOXR2	139628	broad.mit.edu	37	chrX	55651077	55651077	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgacctctctctttgatctTtgaaatgccattgctccctt	6	18	5	12	0	3	3	0	3	3	0	5	3	4	3	3	0	2	1	3	0	1	5			TCGA-S9-A6WD-01A-12D-A33T-08	TCGA-S9-A6WD-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d203973d-84e1-49c8-ab52-9f8b466dd5ed	7c75a779-b0bd-4575-ab5d-a9d3c801f219	g.chrX:55651077T>C	ENST00000339140.3	+	1	1245	c.933T>C	c.(931-933)ctT>ctC	p.L311L		NM_198451.3	NP_940853.1	Q6PJQ5	FOXR2_HUMAN	forkhead box R2	311					embryo development|organ development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(8)|prostate(1)|skin(1)|urinary_tract(1)	19						TCTTTGATCTTTGAAATGCCA	0.478													C	55651077	T	C	55651077	2	2	708	1	0	0	0	0	0	0	0	1	6083	1828	64	3		3	FOXR2	23	55651077	Silent	SNP	T	TCGA-S9-A6WD-01A-12D-A33T-08		55651077	99619483	54	54500											
HEATR5B	54497	broad.mit.edu	37	chr2	37229591	37229591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtactgagatgtggcatatgCcgtactaaaatgaacatcag	14	10	10	7	1	1	2	1	2	0	1	1	3	1	2	1	1	4	3	1	1	6	4			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGGCATATGCCGTACTAAAA	0.478													T	37229591	C	T	37229591	2	4	709	1	0	0	0	0	0	0	0	1	7087	726	26	2		2	HEATR5B	2	37229591	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		37229591	205969782	1	54501											
PGAP1	80055	broad.mit.edu	37	chr2	197791237	197791237	+	Missense_Mutation	SNP	T	T	C																															tgtagctcatactgcacttaTtctcctcgaagccgaagaag																								rs149238260		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791237T>C	ENST00000354764.4	-	1	218	c.104A>G	c.(103-105)aAt>aGt	p.N35S	PGAP1_ENST00000409475.1_Missense_Mutation_p.N35S|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000485830.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						ACTGCACTTATTCTCCTCGAA	0.522													C	197791237	T	C	197791237	3	2	709	1	0	0	0	0	1	0	0	0	11854	1493	52	3	2772	3	PGAP1	2	197791237	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08	160561646	197791237	45408136	2	54502	173	2									
PGAP1	80055	broad.mit.edu	37	chr2	197791240	197791240	+	Missense_Mutation	SNP	T	T	C																															agctcatactgcacttattcTcctcgaagccgaagaagaca																										TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:197791240T>C	ENST00000354764.4	-	1	215	c.101A>G	c.(100-102)gAg>gGg	p.E34G	PGAP1_ENST00000409475.1_Missense_Mutation_p.E34G|PGAP1_ENST00000409188.1_Intron|PGAP1_ENST00000485830.1_Intron	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						GCACTTATTCTCCTCGAAGCC	0.522													C	197791240	T	C	197791240	3	2	709	1	0	0	0	0	1	0	0	0	11854	1551	54	3	2775	3	PGAP1	2	197791240	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08	3	197791240	45408133	3	54503	173	2									
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	709	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	11321872	209113112	34086261	4	54504											
PIKFYVE	200576	broad.mit.edu	37	chr2	209165737	209165737	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagtttcaggatcaccgctActggttgagaacgcatccca	10	9	11	11	2	2	1	2	1	0	1	3	4	3	3	2	3	2	4	2	3	2	3			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr2:209165737A>G	ENST00000264380.4	+	9	1285	c.1127A>G	c.(1126-1128)tAc>tGc	p.Y376C	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.Y290C|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.Y376C|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.Y279C	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	376	DEP.				cellular protein metabolic process|intracellular signal transduction|protein localization to nucleus|retrograde transport, endosome to Golgi	early endosome membrane|membrane raft	1-phosphatidylinositol-3-phosphate 5-kinase activity|1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|metal ion binding|protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						GATCACCGCTACTGGTTGAGA	0.438													G	209165737	A	G	209165737	3	3	709	1	0	0	0	0	1	0	0	0	12001	391	14	3	1157	3	PIKFYVE	2	209165737	Missense_Mutation	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08	52625	209165737	34033636	5	54505											
PDS5A	23244	broad.mit.edu	37	chr4	39911877	39911877	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcttacctgtgagatccttCgctaaatctgggtgattcat	9	14	9	9	1	2	2	1	2	1	1	4	3	3	2	2	1	2	2	2	1	3	4			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr4:39911877C>T	ENST00000303538.8	-	10	1613	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	PDS5A_ENST00000503396.1_Silent_p.A358A	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN	PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)	358					cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding			breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TGAGATCCTTCGCTAAATCTG	0.343													T	39911877	C	T	39911877	2	4	709	1	0	0	0	0	0	0	0	1	11767	871	31	1		1	PDS5A	4	39911877	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		39911877	151242399	6	54506											
PPIC	5480	broad.mit.edu	37	chr5	122361500	122361500	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcccatcaatgacttttccAaacaccacatgtttgccgtc	11	12	4	14	1	1	1	1	1	0	0	4	1	3	1	4	0	2	1	4	0	2	3			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr5:122361500A>G	ENST00000306442.4	-	4	604	c.489T>C	c.(487-489)ttT>ttC	p.F163F		NM_000943.4	NP_000934.1	P45877	PPIC_HUMAN	peptidylprolyl isomerase C (cyclophilin C)	163	PPIase cyclophilin-type.				protein folding|signal transduction	cytoplasm	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(1)	6		all_cancers(142;0.0168)|Prostate(80;0.0322)|Lung NSC(810;0.102)|all_lung(232;0.163)	KIRC - Kidney renal clear cell carcinoma(527;0.0897)|Kidney(363;0.137)	OV - Ovarian serous cystadenocarcinoma(64;0.000331)|Epithelial(69;0.000553)|all cancers(49;0.00505)	L-Proline(DB00172)	TGACTTTTCCAAACACCACAT	0.403													G	122361500	A	G	122361500	2	3	709	1	0	0	0	0	0	0	0	1	12402	127	5	3		3	PPIC	5	122361500	Silent	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08		122361500	58553760	7	54507											
LMOD2	442721	broad.mit.edu	37	chr7	123302544	123302544	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacggtgctcacggagctgCgtttccataaccagaggcac	10	7	11	13	3	1	1	1	0	0	1	2	2	2	2	2	3	4	4	2	3	1	2			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr7:123302544C>T	ENST00000458573.2	+	2	1061	c.904C>T	c.(904-906)Cgt>Tgt	p.R302C	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	302						cytoskeleton	actin binding|tropomyosin binding										CACGGAGCTGCGTTTCCATAA	0.537													T	123302544	C	T	123302544	3	4	709	1	0	0	0	0	1	0	0	0	8918	768	27	1	910	1	LMOD2	7	123302544	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		123302544	35836119	8	54508											
ANKRD30A	91074	broad.mit.edu	37	chr10	37418878	37418881	+	Frame_Shift_Del	DEL	AGAC	AGAC	-																															gaagtagtaacatttctggtAgacagaaagtgccagcttga																										TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr10:37418878_37418881delAGAC	ENST00000374660.1	+	2	210_213	c.111_114delAGAC	c.(109-114)gtagacfs	p.VD37fs	ANKRD30A_ENST00000361713.1_Frame_Shift_Del_p.VD37fs|ANKRD30A_ENST00000602533.1_Frame_Shift_Del_p.VD37fs			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	93						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CATTTCTGGTAGACAGAAAGTGCC	0.456													-	37418881	AGAC	-	37418878	7	5	709	1	0	1	0	1	0	0	0	0	658	407	15	0	117	0	ANKRD30A	10	37418878	Frame_Shift_Del	DEL	AGAC	TCGA-S9-A6WE-01A-12D-A33T-08		37418878	98115869	9	54509											
VWCE	220001	broad.mit.edu	37	chr11	61049329	61049329	+	Frame_Shift_Del	DEL	T	T	-																															ataggaagctgcccacggtgTtgtggcaggaatggtgacag																										TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:61049329delT	ENST00000335613.5	-	7	1102	c.716delA	c.(715-717)aacfs	p.N239fs		NM_152718.2	NP_689931.2	Q96DN2	VWCE_HUMAN	von Willebrand factor C and EGF domains	239	EGF-like 4; calcium-binding (Potential).					extracellular region	calcium ion binding			biliary_tract(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(17)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37						GCCCACGGTGTTGTGGCAGGA	0.627													-	61049329	T	-	61049329	7	5	709	1	0	1	0	1	0	0	0	0	17347	1725	60	0	2207	0	VWCE	11	61049329	Frame_Shift_Del	DEL	T	TCGA-S9-A6WE-01A-12D-A33T-08		61049329	73957187	10	54510											
PDE2A	5138	broad.mit.edu	37	chr11	72316192	72316192	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aatggctcaccggactttccCctcctggggcagctcatgtg	6	10	11	14	1	2	0	2	0	0	0	4	1	4	1	4	4	1	3	4	4	1	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:72316192C>T	ENST00000334456.5	-	4	558	c.313G>A	c.(313-315)Ggg>Agg	p.G105R	PDE2A_ENST00000540345.1_Missense_Mutation_p.G96R|PDE2A_ENST00000544570.1_Missense_Mutation_p.G98R|PDE2A_ENST00000376450.3_Missense_Mutation_p.G98R|PDE2A_ENST00000540380.1_5'UTR|PDE2A_ENST00000444035.2_Missense_Mutation_p.G96R|PDE2A_ENST00000418754.2_Intron	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	105					platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	CGGACTTTCCCCTCCTGGGGC	0.572													T	72316192	C	T	72316192	3	4	709	1	0	0	0	0	1	0	0	0	11712	623	22	2	2624	2	PDE2A	11	72316192	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	11266863	72316192	62690324	11	54511											
EXPH5	23086	broad.mit.edu	37	chr11	108409780	108409780	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccagtgatggaagctttgaAgtctcctttccagatttcct	8	14	8	11	0	1	3	0	2	1	1	4	4	3	4	4	1	1	1	4	1	2	3			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr11:108409780A>G	ENST00000265843.4	-	3	524	c.414T>C	c.(412-414)acT>acC	p.T138T	EXPH5_ENST00000525344.1_Silent_p.T131T|EXPH5_ENST00000428840.1_Silent_p.T62T	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	138					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		GAAGCTTTGAAGTCTCCTTTC	0.443													G	108409780	A	G	108409780	2	3	709	1	0	0	0	0	0	0	0	1	5364	59	3	3		3	EXPH5	11	108409780	Silent	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08	36093588	108409780	26596736	12	54512											
DNM1L	10059	broad.mit.edu	37	chr12	32884346	32884346	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tttgagttactggtgaagcgGcaaatcaaacgtctagaaga	14	10	11	6	2	2	4	1	2	1	2	2	4	2	4	0	2	3	2	0	2	6	3			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:32884346G>A	ENST00000452533.2	+	11	1421	c.1257G>A	c.(1255-1257)cgG>cgA	p.R419R	DNM1L_ENST00000547312.1_Silent_p.R419R|YARS2_ENST00000551673.1_Intron|DNM1L_ENST00000266481.6_Silent_p.R419R|DNM1L_ENST00000549701.1_Silent_p.R419R|DNM1L_ENST00000381000.4_Silent_p.R432R|DNM1L_ENST00000553257.1_Silent_p.R432R|DNM1L_ENST00000358214.5_Silent_p.R432R|DNM1L_ENST00000414834.2_Silent_p.R216R	NM_012062.3|NM_012063.2	NP_036192.2|NP_036193.2	O00429	DNM1L_HUMAN	dynamin 1-like	419	Middle domain.				cellular component disassembly involved in apoptosis|mitochondrial fragmentation involved in apoptosis|mitochondrial membrane organization|positive regulation of mitochondrial fission	cis-Golgi network|cytosol|endomembrane system|endoplasmic reticulum|mitochondrial outer membrane	GTP binding|GTPase activity|ubiquitin protein ligase binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	23	Lung NSC(5;2.15e-06)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0429)|Esophageal squamous(101;0.239)					TGGTGAAGCGGCAAATCAAAC	0.418													A	32884346	G	A	32884346	2	1	709	1	0	0	0	0	0	0	0	1	4710	1190	42	2		2	DNM1L	12	32884346	Silent	SNP	G	TCGA-S9-A6WE-01A-12D-A33T-08		32884346	100967549	13	54513											
CLIP1	6249	broad.mit.edu	37	chr12	122817533	122817533	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttcaacagtcacatataCctttctttcagacgtaattc	11	16	3	11	1	4	1	3	0	1	1	5	1	4	1	1	0	2	1	1	0	4	8			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr12:122817533C>T	ENST00000358808.2	-	14	2989		c.e14+1		CLIP1_ENST00000545889.1_Splice_Site|CLIP1_ENST00000361654.4_Splice_Site|CLIP1_ENST00000540338.1_Splice_Site|CLIP1_ENST00000302528.7_Splice_Site|CLIP1_ENST00000537178.1_Splice_Site	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1						mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		GTCACATATACCTTTCTTTCA	0.393													T	122817533	C	T	122817533	5	4	709	1	0	0	0	0	0	0	1	0	3563	521	18	2	1496	2	CLIP1	12	122817533	Splice_Site	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08	89933187	122817533	11034362	14	54514											
ZFYVE26	23503	broad.mit.edu	37	chr14	68274236	68274236	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctgagcagccgctcctcCcgcaggggactcccctcggt	5	6	12	18	3	0	1	0	1	0	0	4	2	3	2	5	3	3	4	5	3	0	0			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr14:68274236C>T	ENST00000347230.4	-	5	903	c.765G>A	c.(763-765)cgG>cgA	p.R255R	ZFYVE26_ENST00000555452.1_Silent_p.R255R	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	255					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GCCGCTCCTCCCGCAGGGGAC	0.622													T	68274236	C	T	68274236	2	4	709	1	0	0	0	0	0	0	0	1	17769	610	22	2		2	ZFYVE26	14	68274236	Silent	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		68274236	39075304	15	54515											
MSLNL	401827	broad.mit.edu	37	chr16	830799	830799	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taggtgacggtgtgcacgggTaggtgacagctgtgtgcacg	7	9	18	7	3	0	2	0	2	0	0	0	2	0	2	0	4	3	4	0	4	2	2			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr16:830799T>G	ENST00000293892.3	-	3	201	c.202A>C	c.(202-204)Acc>Ccc	p.T68P	MSLNL_ENST00000442466.1_Intron			Q96KJ4	MSLNL_HUMAN	mesothelin-like	0					cell adhesion	integral to membrane				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						TGTGCACGGGTAGGTGACAGC	0.592													G	830799	T	G	830799	3	3	709	1	0	0	0	0	1	0	0	0	9958	1638	57	5	3015	5	MSLNL	16	830799	Missense_Mutation	SNP	T	TCGA-S9-A6WE-01A-12D-A33T-08		830799	89523954	16	54516											
ATP8B1	5205	broad.mit.edu	37	chr18	55399014	55399014	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagaatcctcgtcaaatgtcGtttctgagtctctttctgta	8	16	8	9	2	4	2	1	1	3	1	8	3	5	2	1	0	0	2	1	0	3	3	rs150268416		TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr18:55399014G>A	ENST00000536015.1	-	2	145	c.26C>T	c.(25-27)aCg>aTg	p.T9M	RP11-35G9.5_ENST00000588925.1_RNA|RP11-35G9.3_ENST00000599199.1_RNA|ATP8B1_ENST00000283684.4_Missense_Mutation_p.T9M	NM_005603.4	NP_005594	O43520	AT8B1_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 1	9					ATP biosynthetic process|bile acid and bile salt transport|negative regulation of transcription, DNA-dependent	apical plasma membrane|integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(6)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(19)|ovary(3)|prostate(1)	53		Colorectal(73;0.229)				GTCAAATGTCGTTTCTGAGTC	0.428													A	55399014	G	A	55399014	3	1	709	1	0	0	0	0	1	0	0	0	1199	1145	40	1	3837	1	ATP8B1	18	55399014	Missense_Mutation	SNP	G	TCGA-S9-A6WE-01A-12D-A33T-08		55399014	22678234	17	54517											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	10	6	13	12	2	1	2	1	1	0	1	2	4	2	3	4	4	1	0	4	4	2	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								T	42791718	C	T	42791718	3	4	709	1	0	0	0	0	1	0	0	0	3454	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		42791718	16337265	18	54518											
TMX4	56255	broad.mit.edu	37	chr20	7982176	7982176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagtggtgacaaagaagCggccactcaaacctacaaga	16	4	12	9	1	1	4	1	1	0	3	1	5	1	4	2	3	3	0	2	3	5	1			TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chr20:7982176C>T	ENST00000246024.2	-	3	520	c.305G>A	c.(304-306)cGc>cAc	p.R102H	TMX4_ENST00000530935.1_5'UTR	NM_021156.2	NP_066979.2	Q9H1E5	TMX4_HUMAN	thioredoxin-related transmembrane protein 4	102	Thioredoxin.				cell redox homeostasis|electron transport chain|transport	integral to membrane				endometrium(3)|large_intestine(2)|lung(11)|skin(1)	17						GACAAAGAAGCGGCCACTCAA	0.323													T	7982176	C	T	7982176	3	4	709	1	0	0	0	0	1	0	0	0	16369	768	27	1	768	1	TMX4	20	7982176	Missense_Mutation	SNP	C	TCGA-S9-A6WE-01A-12D-A33T-08		7982176	55043344	19	54519											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-S9-A6WE-01A-12D-A33T-08	TCGA-S9-A6WE-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	bc116e35-9224-47ce-a37e-a8adbf2b3be5	fdf5aabf-afa2-401d-a368-15b5ad44eb7c	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	709	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-S9-A6WE-01A-12D-A33T-08		37028425	118242135	20	54520											
MYSM1	114803	broad.mit.edu	37	chr1	59137620	59137620	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctttttgccaactcctcaGcagagagatgctaaaacaaa	14	11	6	10	0	2	2	1	0	1	2	3	3	3	2	2	0	5	2	2	0	4	4			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr1:59137620G>T	ENST00000472487.1	-	12	1622	c.1583C>A	c.(1582-1584)gCt>gAt	p.A528D	MYSM1_ENST00000493821.1_5'UTR	NM_001085487.2	NP_001078956.1	Q5VVJ2	MYSM1_HUMAN	Myb-like, SWIRM and MPN domains 1	528					histone deubiquitination|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromatin remodeling complex	DNA binding|histone binding|metal ion binding|metallopeptidase activity|transcription coactivator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(7;9.36e-06)					CAACTCCTCAGCAGAGAGATG	0.358													T	59137620	G	T	59137620	3	4	710	1	0	0	0	0	1	0	0	0	10177	971	34	4	939	4	MYSM1	1	59137620	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		59137620	190113001	1	54521											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	710	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		209113112	34086261	2	54522											
SPEG	10290	broad.mit.edu	37	chr2	220342458	220342458	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcggggaggatgaggaccatCgaggaaggagactcagcgac	12	4	17	8	3	1	2	1	1	0	1	3	9	1	6	1	6	1	0	1	6	1	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr2:220342458C>T	ENST00000312358.7	+	21	4909	c.4777C>T	c.(4777-4779)Cga>Tga	p.R1593*	SPEG_ENST00000485813.1_3'UTR	NM_005876.4	NP_005867.3	Q15772	SPEG_HUMAN	SPEG complex locus	1593					muscle organ development|negative regulation of cell proliferation	nucleus	ATP binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(3)|endometrium(10)|kidney(2)|large_intestine(9)|lung(42)|ovary(5)|pancreas(1)|prostate(8)|skin(1)|stomach(9)|upper_aerodigestive_tract(4)|urinary_tract(4)	100		Renal(207;0.0183)		Epithelial(149;4.5e-10)|all cancers(144;7.93e-08)|Lung(261;0.00639)|LUSC - Lung squamous cell carcinoma(224;0.00829)|READ - Rectum adenocarcinoma(5;0.163)		TGAGGACCATCGAGGAAGGAG	0.607													T	220342458	C	T	220342458	4	4	710	1	0	0	0	0	0	1	0	0	15132	876	31	1	4871	1	SPEG	2	220342458	Nonsense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	11229346	220342458	22856915	3	54523											
SCN10A	6336	broad.mit.edu	37	chr3	38743473	38743473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattttgcccagaattttcGtcttttcttcactttggtca	6	20	6	9	1	4	2	2	1	2	1	5	2	4	2	1	1	1	0	1	1	1	8			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:38743473G>A	ENST00000449082.2	-	26	4513	c.4514C>T	c.(4513-4515)aCg>aTg	p.T1505M		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1505					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	CAGAATTTTCGTCTTTTCTTC	0.453													A	38743473	G	A	38743473	3	1	710	1	0	0	0	0	1	0	0	0	14005	1145	40	1	1364	1	SCN10A	3	38743473	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		38743473	159278957	4	54524											
DVL3	1857	broad.mit.edu	37	chr3	183873553	183873555	+	In_Frame_Del	DEL	TTC	TTC	-																															tgcagcgacccagctataagTtcttcttcaagtctatggac																										TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr3:183873553_183873555delTTC	ENST00000313143.3	+	1	378_380	c.130_132delTTC	c.(130-132)ttcdel	p.F46del	DVL3_ENST00000462665.1_3'UTR|EIF2B5_ENST00000444495.1_Intron|DVL3_ENST00000431765.1_In_Frame_Del_p.F46del	NM_004423.3	NP_004414.3	Q92997	DVL3_HUMAN	dishevelled segment polarity protein 3	46	DIX.				canonical Wnt receptor signaling pathway|intracellular signal transduction|positive regulation of JUN kinase activity|positive regulation of protein phosphorylation|positive regulation of transcription, DNA-dependent	cytoplasm	beta-catenin binding|frizzled binding|protease binding|protein heterodimerization activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(6)|liver(1)|lung(13)|ovary(1)|prostate(1)	35	all_cancers(143;1.12e-10)|Ovarian(172;0.0339)		Epithelial(37;2.08e-34)|OV - Ovarian serous cystadenocarcinoma(80;1.31e-22)			CAGCTATAAGTTCTTCTTCAAGT	0.635													-	183873555	TTC	-	183873553	7	5	710	1	0	1	0	1	0	0	0	0	4876	1725	60	0	132	0	DVL3	3	183873553	In_Frame_Del	DEL	TTC	TCGA-S9-A6WG-01A-11D-A33T-08	145130080	183873553	14148877	5	54525											
CPE	1363	broad.mit.edu	37	chr4	166405649	166405649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccgggcatactcttctttcaAcccggccatgtctgacccca	7	10	7	17	2	4	1	1	1	3	0	4	1	4	1	5	2	2	1	5	2	2	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr4:166405649A>G	ENST00000402744.4	+	5	1146	c.866A>G	c.(865-867)aAc>aGc	p.N289S		NM_001873.2	NP_001864.1	P16870	CBPE_HUMAN	carboxypeptidase E	289					cardiac left ventricle morphogenesis|neuropeptide signaling pathway|protein modification process	extracellular region|nucleus|plasma membrane	metallocarboxypeptidase activity|protein binding|zinc ion binding			endometrium(2)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	26	all_hematologic(180;0.221)	Prostate(90;0.0962)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.137)	Glucagon recombinant(DB00040)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TCTTCTTTCAACCCGGCCATG	0.502													G	166405649	A	G	166405649	3	3	710	1	0	0	0	0	1	0	0	0	3830	43	2	3	884	3	CPE	4	166405649	Missense_Mutation	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		166405649	24748627	6	54526											
TAF9	6880	broad.mit.edu	37	chr5	68660800	68660800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcatcatcatcatcAtcgtcatcatcatcatcttc	11	15	2	13	1	11	0	10	0	1	0	13	0	11	0	0	0	0	0	0	0	1	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000217893.5_Silent_p.D255D|TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													G	68660800	A	G	68660800	2	3	710	1	0	0	0	0	0	0	0	1	15632	214	8	3		3	TAF9	5	68660800	Silent	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		68660800	112254460	7	54527											
NSD1	64324	broad.mit.edu	37	chr5	176638954	176638954	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaagaaaactctgagtGtgcctttagggtcttacttc	12	12	10	7	0	2	3	0	1	2	2	3	4	2	3	1	1	3	0	1	1	5	4			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr5:176638954G>T	ENST00000439151.2	+	5	3599	c.3554G>T	c.(3553-3555)tGt>tTt	p.C1185F	NSD1_ENST00000361032.4_Missense_Mutation_p.C1082F|NSD1_ENST00000354179.4_Missense_Mutation_p.C916F|NSD1_ENST00000347982.4_Missense_Mutation_p.C916F	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1185					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		AACTCTGAGTGTGCCTTTAGG	0.478			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)			T	176638954	G	T	176638954	3	4	710	1	0	0	0	0	1	0	0	0	10745	1377	48	4	3568	4	NSD1	5	176638954	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	107978154	176638954	4276306	8	54528											
COL19A1	1310	broad.mit.edu	37	chr6	70639416	70639416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttttagaaatcgagaactcCgtcctttgtttgatcgtcag	9	16	8	8	3	1	3	1	1	0	2	5	4	3	3	2	0	1	1	2	0	3	5			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:70639416C>T	ENST00000322773.4	+	6	592	c.490C>T	c.(490-492)Cgt>Tgt	p.R164C		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	164	TSP N-terminal.				cell differentiation|cell-cell adhesion|extracellular matrix organization|skeletal system development	collagen	extracellular matrix structural constituent|protein binding, bridging			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						TCGAGAACTCCGTCCTTTGTT	0.393													T	70639416	C	T	70639416	3	4	710	1	0	0	0	0	1	0	0	0	3707	652	23	1	508	1	COL19A1	6	70639416	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		70639416	100475651	9	54529											
ENPP1	5167	broad.mit.edu	37	chr6	132176133	132176133	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cagaatatttacacacttggGgtggacttcttcctgttatt	9	16	8	8	0	1	1	0	0	1	1	2	2	2	2	1	3	1	1	1	3	4	8	rs147798392		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr6:132176133G>A	ENST00000360971.2	+	6	705	c.685G>A	c.(685-687)Ggt>Agt	p.G229S		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	229	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	ACACACTTGGGGTGGACTTCT	0.383													A	132176133	G	A	132176133	3	1	710	1	0	0	0	0	1	0	0	0	5170	1232	43	2	707	2	ENPP1	6	132176133	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	61536717	132176133	38938934	10	54530											
HOXA11	3207	broad.mit.edu	37	chr7	27224643	27224643	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggagtatgtcattgggcGcgaagacggggtctggggca	8	8	19	6	3	2	1	1	0	1	1	2	3	2	2	0	6	0	3	0	6	3	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr7:27224643G>A	ENST00000006015.3	-	1	192	c.121C>T	c.(121-123)Cgc>Tgc	p.R41C	HOXA11-AS_ENST00000522863.1_RNA|HOXA11-AS_ENST00000520360.1_RNA	NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	41					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						GTCATTGGGCGCGAAGACGGG	0.552			T	NUP98	CML						OREG0003747	type=REGULATORY REGION|Gene=BC025338|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	27224643	G	A	27224643	3	1	710	1	0	0	0	0	1	0	0	0	7345	1087	38	1	828	1	HOXA11	7	27224643	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		27224643	131914020	11	54531											
KIAA1161	57462	broad.mit.edu	37	chr9	34371189	34371189	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gatagagaactgcatggccgGcataaaggcggccacttcca	12	6	12	11	2	0	1	0	0	0	1	1	3	1	1	3	4	2	2	3	4	4	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:34371189G>A	ENST00000297625.7	-	2	1876	c.1651C>T	c.(1651-1653)Ccg>Tcg	p.P551S		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	585					carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		TGCATGGCCGGCATAAAGGCG	0.687													A	34371189	G	A	34371189	3	1	710	1	0	0	0	0	1	0	0	0	8269	1203	42	2	395	2	KIAA1161	9	34371189	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		34371189	106842242	12	54532											
TMC1	117531	broad.mit.edu	37	chr9	75355081	75355081	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgaaggggctcttgggaaaGgaaaaggaaaacggtggttt	14	8	16	3	1	1	1	0	1	1	0	1	4	1	4	0	7	1	2	0	7	6	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:75355081G>T	ENST00000297784.5	+	9	949	c.409G>T	c.(409-411)Gga>Tga	p.G137*	TMC1_ENST00000340019.3_Nonsense_Mutation_p.G137*|TMC1_ENST00000396237.3_Nonsense_Mutation_p.G137*	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	137	Arg/Asp/Glu/Lys-rich (highly charged).				sensory perception of sound	integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						TCTTGGGAAAGGAAAAGGAAA	0.378													T	75355081	G	T	75355081	4	4	710	1	0	0	0	0	0	1	0	0	16084	1001	35	4	427	4	TMC1	9	75355081	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	40983892	75355081	65858350	13	54533											
ZBTB6	10773	broad.mit.edu	37	chr9	125674072	125674072	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctttccttttaacttCaagtgctccagtatagcaag	11	14	6	10	0	2	0	1	0	1	0	4	0	4	0	2	0	4	4	2	0	6	6			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr9:125674072C>A	ENST00000373659.3	-	2	368	c.280G>T	c.(280-282)Gaa>Taa	p.E94*		NM_006626.5	NP_006617.1	Q15916	ZBTB6_HUMAN	zinc finger and BTB domain containing 6	94	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(1)|skin(1)	11						CTTTTAACTTCAAGTGCTCCA	0.388													A	125674072	C	A	125674072	4	1	710	1	0	0	0	0	0	1	0	0	17653	835	29	4	998	4	ZBTB6	9	125674072	Nonsense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	50318991	125674072	15539359	14	54534											
FAM111A	63901	broad.mit.edu	37	chr11	58920410	58920410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctaaaagacaaggaaacaaaCtacttttttgttgaaccttg	16	12	6	7	0	0	2	0	1	0	1	0	3	0	3	1	1	4	1	1	1	7	7			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr11:58920410C>A	ENST00000528737.1	+	5	4087	c.1269C>A	c.(1267-1269)aaC>aaA	p.N423K	FAM111A_ENST00000420244.1_Missense_Mutation_p.N423K|FAM111A_ENST00000533703.1_Missense_Mutation_p.N423K|FAM111A_ENST00000531147.1_Missense_Mutation_p.N423K|FAM111A_ENST00000361723.3_Missense_Mutation_p.N423K			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	423					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AGGAAACAAACTACTTTTTTG	0.388													A	58920410	C	A	58920410	3	1	710	1	0	0	0	0	1	0	0	0	5444	564	20	4	1275	4	FAM111A	11	58920410	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		58920410	76086106	15	54535											
KIF5A	3798	broad.mit.edu	37	chr12	57944094	57944094	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtagcatcaaggtgctcTgccgattccggcccctgaac	9	9	10	13	2	2	1	1	1	1	0	3	2	3	1	4	2	4	3	4	2	4	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:57944094T>C	ENST00000455537.2	+	1	314	c.40T>C	c.(40-42)Tgc>Cgc	p.C14R	KIF5A_ENST00000286452.5_Missense_Mutation_p.C14R	NM_004984.2	NP_004975.2	Q12840	KIF5A_HUMAN	kinesin family member 5A	14	Kinesin-motor.				blood coagulation|cell death|microtubule-based movement|synaptic transmission	cytosol|kinesin complex|membrane fraction|microtubule|perinuclear region of cytoplasm	ATP binding|microtubule motor activity			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(32)|ovary(2)|prostate(2)|skin(2)	62						CAAGGTGCTCTGCCGATTCCG	0.597													C	57944094	T	C	57944094	3	2	710	1	0	0	0	0	1	0	0	0	8363	1580	55	3	42	3	KIF5A	12	57944094	Missense_Mutation	SNP	T	TCGA-S9-A6WG-01A-11D-A33T-08		57944094	75907801	16	54536											
GOLGA3	2802	broad.mit.edu	37	chr12	133353247	133353247	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgctgtagcccttccagTtccttcctgccctgctgctc	3	13	8	17	0	0	0	0	0	0	0	4	0	3	0	5	0	6	6	5	0	1	4			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr12:133353247T>C	ENST00000204726.3	-	21	4509	c.3951A>G	c.(3949-3951)gaA>gaG	p.E1317E	GOLGA3_ENST00000450791.2_Silent_p.E1317E|GOLGA3_ENST00000456883.2_Silent_p.E1317E	NM_005895.3	NP_005886.2	Q08378	GOGA3_HUMAN	golgin A3	1317	Gln-rich.				intra-Golgi vesicle-mediated transport	Golgi cisterna membrane|Golgi transport complex	protein binding|transporter activity			breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(33)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0176)|Lung NSC(355;0.204)		OV - Ovarian serous cystadenocarcinoma(86;2.27e-08)|Epithelial(86;3.34e-07)|all cancers(50;9.4e-06)		GCCCTTCCAGTTCCTTCCTGC	0.567													C	133353247	T	C	133353247	2	2	710	1	0	0	0	0	0	0	0	1	6610	1722	60	3		3	GOLGA3	12	133353247	Silent	SNP	T	TCGA-S9-A6WG-01A-11D-A33T-08	75409153	133353247	498648	17	54537											
AKAP11	11215	broad.mit.edu	37	chr13	42876142	42876142	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggtttgcatgtggaagAtaaacagaaagtcagagaca	17	8	12	4	0	1	4	1	0	0	4	1	6	1	5	0	2	2	2	0	2	4	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr13:42876142A>G	ENST00000025301.2	+	8	3435	c.3260A>G	c.(3259-3261)gAt>gGt	p.D1087G		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1087					intracellular protein kinase cascade	microtubule organizing center	protein kinase A binding|protein phosphatase 1 binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		CATGTGGAAGATAAACAGAAA	0.423													G	42876142	A	G	42876142	3	3	710	1	0	0	0	0	1	0	0	0	447	333	12	3	3282	3	AKAP11	13	42876142	Missense_Mutation	SNP	A	TCGA-S9-A6WG-01A-11D-A33T-08		42876142	72293736	18	54538											
NQO1	1728	broad.mit.edu	37	chr16	69746992	69746992	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttgcagagagtacatggagCcactgccaccagtggtgatg	10	8	13	10	0	0	2	0	1	0	1	0	4	0	3	3	2	4	2	3	2	1	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr16:69746992C>G	ENST00000320623.5	-	5	969	c.458G>C	c.(457-459)gGc>gCc	p.G153A	NQO1_ENST00000564043.1_Missense_Mutation_p.G132A|NQO1_ENST00000379046.2_Missense_Mutation_p.G115A|NQO1_ENST00000379047.3_Intron|NQO1_ENST00000439109.2_Intron|NQO1_ENST00000561500.1_Missense_Mutation_p.G115A	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	153					nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Dicumarol(DB00266)|Menadione(DB00170)	GTACATGGAGCCACTGCCACC	0.438													G	69746992	C	G	69746992	3	3	710	1	0	0	0	0	1	0	0	0	10687	739	26	4	374	4	NQO1	16	69746992	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		69746992	20607761	19	54539											
SPNS3	201305	broad.mit.edu	37	chr17	4352554	4352554	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtttcgtgtggtcgaccctCggagtgaccgccatggcctt	5	11	13	12	4	0	1	0	1	0	0	3	3	0	2	4	3	0	1	4	3	0	2			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:4352554C>T	ENST00000355530.2	+	7	1075	c.795C>T	c.(793-795)ctC>ctT	p.L265L	SPNS3_ENST00000576069.1_Intron|SPNS3_ENST00000333476.2_Silent_p.L138L	NM_182538.4	NP_872344.3	Q6ZMD2	SPNS3_HUMAN	spinster homolog 3 (Drosophila)	265					lipid transport|transmembrane transport	integral to membrane				NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|skin(6)|stomach(2)	28						GGTCGACCCTCGGAGTGACCG	0.657													T	4352554	C	T	4352554	2	4	710	1	0	0	0	0	0	0	0	1	15172	871	31	1		1	SPNS3	17	4352554	Silent	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		4352554	76842656	20	54540											
TP53	7157	broad.mit.edu	37	chr17	7576855	7576855	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggtcccaagacttagtacctGaagggtgaaatattctccat	12	11	9	9	0	1	3	0	2	1	1	3	3	2	3	3	2	1	1	3	2	6	4			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7576855G>A	ENST00000420246.2	-	9	1123	c.991C>T	c.(991-993)Cag>Tag	p.Q331*	TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q331*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q331*|TP53_ENST00000359597.4_Nonsense_Mutation_p.Q331*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	331	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		Q -> H (in sporadic cancers; somatic mutation).|Q -> P (in sporadic cancers; somatic mutation).|Q -> R (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.Q331*(23)|p.0?(8)|p.Q331fs*6(2)|p.?(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)		CTTAGTACCTGAAGGGTGAAA	0.448		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)			A	7576855	G	A	7576855	4	1	710	1	0	0	0	0	0	1	0	0	16482	1299	45	2	291	2	TP53	17	7576855	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	3224301	7576855	73618355	21	54541											
TP53	7157	broad.mit.edu	37	chr17	7578388	7578388	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caccatcgctatctgagcagCgctcatggtgggggcagcgc	7	7	14	13	3	2	1	1	1	1	0	3	1	2	1	1	3	3	4	1	3	1	1	rs138525931	by1000genomes	TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:7578388C>T	ENST00000420246.2	-	5	674	c.542G>A	c.(541-543)cGc>cAc	p.R181H	TP53_ENST00000413465.2_Missense_Mutation_p.R181H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000445888.2_Missense_Mutation_p.R181H|TP53_ENST00000455263.2_Missense_Mutation_p.R181H|TP53_ENST00000269305.4_Missense_Mutation_p.R181H|TP53_ENST00000359597.4_Missense_Mutation_p.R181H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	181	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> S (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.R181H(21)|p.R181P(14)|p.P177_C182delPHHERC(8)|p.0?(8)|p.R181L(3)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R49P(1)|p.C176fs*65(1)|p.R181C(1)|p.V173fs*23(1)|p.R181>XXXXXXX(1)|p.R88P(1)|p.R81fs*24(1)|p.H46_S51delHHERCS(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.E180_S183del(1)|p.R174fs*3(1)|p.E171fs*61(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)		ATCTGAGCAGCGCTCATGGTG	0.637		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)			T	7578388	C	T	7578388	3	4	710	1	0	0	0	0	1	0	0	0	16482	768	27	1	756	1	TP53	17	7578388	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	1533	7578388	73616822	22	54542											
HEXIM2	124790	broad.mit.edu	37	chr17	43246712	43246712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtccgcgaagagatgttcGccaaaggccagcccgtggcc	8	5	15	13	4	0	1	0	0	0	1	2	3	1	1	5	3	1	1	5	3	2	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr17:43246712G>A	ENST00000307275.3	+	4	833	c.397G>A	c.(397-399)Gcc>Acc	p.A133T	HEXIM2_ENST00000591576.1_Missense_Mutation_p.A133T|RP13-890H12.2_ENST00000589796.1_RNA|HEXIM2_ENST00000592695.1_Missense_Mutation_p.A133T	NM_144608.1	NP_653209.1	Q96MH2	HEXI2_HUMAN	hexamethylene bis-acetamide inducible 2	133					negative regulation of cyclin-dependent protein kinase activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus	cyclin-dependent protein kinase inhibitor activity|protein binding|snRNA binding			endometrium(1)|large_intestine(3)|lung(1)	5						AGAGATGTTCGCCAAAGGCCA	0.627													A	43246712	G	A	43246712	3	1	710	1	0	0	0	0	1	0	0	0	7132	1087	38	1	403	1	HEXIM2	17	43246712	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	35668324	43246712	37948498	23	54543											
CYP4F22	126410	broad.mit.edu	37	chr19	15648180	15648180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccctccacagctgccatcGcccccaaggatgacctcttc	7	8	7	19	1	1	1	0	1	1	0	4	2	2	2	6	1	3	1	6	1	1	1	rs146689227		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:15648180G>A	ENST00000269703.3	+	5	575	c.376G>A	c.(376-378)Gcc>Acc	p.A126T	CYP4F22_ENST00000601005.2_Missense_Mutation_p.A126T	NM_173483.3	NP_775754.2	Q6NT55	CP4FN_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 22							endoplasmic reticulum membrane|microsome	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen			endometrium(6)|large_intestine(9)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|soft_tissue(1)	37						AGCTGCCATCGCCCCCAAGGA	0.507													A	15648180	G	A	15648180	3	1	710	1	0	0	0	0	1	0	0	0	4222	1087	38	1	386	1	CYP4F22	19	15648180	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		15648180	43480803	24	54544											
ATF5	22809	broad.mit.edu	37	chr19	50436053	50436053	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcctctgcccccgccacagCagccccctcctccttctcca	4	7	5	25	2	2	0	0	0	2	0	5	0	4	0	9	0	3	1	9	0	0	1			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:50436053C>A	ENST00000423777.2	+	3	930	c.553C>A	c.(553-555)Cag>Aag	p.Q185K	ATF5_ENST00000595125.1_Missense_Mutation_p.Q185K|CTC-326K19.6_ENST00000451973.1_Intron	NM_001193646.1	NP_001180575.1	Q9Y2D1	ATF5_HUMAN	activating transcription factor 5	185	Interaction with PTP4A1 (By similarity).				regulation of transcription from RNA polymerase II promoter	cytoplasm	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			NS(1)|endometrium(2)|large_intestine(1)|skin(3)	7		all_lung(116;0.00318)|all_neural(266;0.107)|Ovarian(192;0.17)		GBM - Glioblastoma multiforme(134;0.00221)|OV - Ovarian serous cystadenocarcinoma(262;0.017)		CCCGCCACAGCAGCCCCCTCC	0.647													A	50436053	C	A	50436053	3	1	710	1	0	0	0	0	1	0	0	0	1088	711	25	4	559	4	ATF5	19	50436053	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	34787873	50436053	8692930	25	54545											
ZNF677	342926	broad.mit.edu	37	chr19	53747061	53747061	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtagttctccaacatcacGtccctgtacaaggccctctg	8	11	7	15	1	3	0	1	0	2	0	5	0	4	0	3	1	2	3	3	1	4	3	rs147481361		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr19:53747061G>A	ENST00000333952.4	-	4	270	c.105C>T	c.(103-105)gaC>gaT	p.D35D	ZNF677_ENST00000594681.1_Silent_p.D35D|ZNF677_ENST00000601828.1_Silent_p.D35D|ZNF677_ENST00000598513.1_Silent_p.D35D|ZNF677_ENST00000599012.1_Silent_p.D35D|ZNF677_ENST00000598806.1_Silent_p.D35D|ZNF677_ENST00000601413.1_Silent_p.D35D			Q86XU0	ZN677_HUMAN	zinc finger protein 677	35	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(13)|lung(6)|ovary(1)|pancreas(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(134;0.00352)		CCAACATCACGTCCCTGTACA	0.468													A	53747061	G	A	53747061	2	1	710	1	0	0	0	0	0	0	0	1	18185	1136	40	1		1	ZNF677	19	53747061	Silent	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	3311008	53747061	5381922	26	54546											
RAE1	8480	broad.mit.edu	37	chr20	55948583	55948583	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaacaagcctactggttttgCcctgggaagtatcgagggga	10	9	14	8	1	0	0	0	0	0	0	1	4	0	2	2	4	4	2	2	4	5	4			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:55948583C>T	ENST00000395841.2	+	9	1115	c.695C>T	c.(694-696)gCc>gTc	p.A232V	RAE1_ENST00000527947.1_Missense_Mutation_p.A232V|RAE1_ENST00000395840.2_Missense_Mutation_p.A232V|RAE1_ENST00000371242.2_Missense_Mutation_p.A232V	NM_003610.3	NP_003601.1	P78406	RAE1L_HUMAN	ribonucleic acid export 1	232					carbohydrate metabolic process|glucose transport|mRNA export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|cytoskeleton|nuclear outer membrane|nuclear pore	microtubule binding|RNA binding	p.A232V(1)		breast(1)|endometrium(5)|large_intestine(4)|lung(6)|prostate(3)|skin(2)	21	Lung NSC(12;0.00263)|all_lung(29;0.00828)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(4;3.7e-14)|Epithelial(14;1.07e-09)|all cancers(14;1.11e-08)			ACTGGTTTTGCCCTGGGAAGT	0.398													T	55948583	C	T	55948583	3	4	710	1	0	0	0	0	1	0	0	0	13086	739	26	2	725	2	RAE1	20	55948583	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08		55948583	7076937	27	54547											
ZNF831	128611	broad.mit.edu	37	chr20	57768604	57768604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgtgagcgcagagaccCcaggtgggcccacgcagcct	8	4	14	15	2	0	2	0	1	0	1	0	3	0	2	5	2	3	2	5	2	0	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:57768604C>T	ENST00000371030.2	+	1	2530	c.2530C>T	c.(2530-2532)Cca>Tca	p.P844S		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	844						intracellular	nucleic acid binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					CGCAGAGACCCCAGGTGGGCC	0.642													T	57768604	C	T	57768604	3	4	710	1	0	0	0	0	1	0	0	0	18284	623	22	2	2532	2	ZNF831	20	57768604	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	1820021	57768604	5256916	28	54548											
CDH4	1002	broad.mit.edu	37	chr20	60499460	60499460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacggccagatcaccacggCggcagtgctggaccgtgagt	9	5	14	13	4	1	2	1	1	0	1	1	3	1	3	3	4	2	2	3	4	1	0	rs1051676		TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr20:60499460C>T	ENST00000360469.5	+	11	1785	c.1697C>T	c.(1696-1698)gCg>gTg	p.A566V	CDH4_ENST00000543233.1_Missense_Mutation_p.A492V	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	566	Cadherin 4.			A -> V (in Ref. 1; AAA35627 and 4; no nucleotide entry).	adherens junction organization|cell junction assembly		calcium ion binding			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			ATCACCACGGCGGCAGTGCTG	0.612													T	60499460	C	T	60499460	3	4	710	1	0	0	0	0	1	0	0	0	3142	768	27	1	1739	1	CDH4	20	60499460	Missense_Mutation	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	2730856	60499460	2526060	29	54549											
APOBEC3C	27350	broad.mit.edu	37	chr22	39414020	39414020	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccgcagcctgagtcaggaaGgggtcgctgtggagatcatg	8	8	16	9	2	2	2	2	1	0	1	4	4	3	3	2	4	1	2	2	4	1	0			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chr22:39414020G>A	ENST00000361441.4	+	3	704	c.424G>A	c.(424-426)Ggg>Agg	p.G142R	APOBEC3D_ENST00000381568.4_Intron	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C						DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					GAGTCAGGAAGGGGTCGCTGT	0.592													A	39414020	G	A	39414020	3	1	710	1	0	0	0	0	1	0	0	0	794	1000	35	2	434	2	APOBEC3C	22	39414020	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		39414020	11890546	30	54550											
ATRX	546	broad.mit.edu	37	chrX	76875920	76875920	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aataatcctcctccttgatcGtatagaattcatagctttag	12	15	5	9	1	1	2	1	1	0	1	5	2	4	2	3	0	1	2	3	0	7	8			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:76875920G>A	ENST00000373344.5	-	20	5429	c.5215C>T	c.(5215-5217)Cga>Tga	p.R1739*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R1701*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1739	Helicase ATP-binding.				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.R1739*(1)|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)	CTCCTTGATCGTATAGAATTC	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76875920	G	A	76875920	4	1	710	1	0	0	0	0	0	1	0	0	1213	1153	40	1	2327	1	ATRX	23	76875920	Nonsense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08		76875920	78394640	31	54551											
IRS4	8471	broad.mit.edu	37	chrX	107977802	107977803	+	Frame_Shift_Ins	INS	-	-	C																															tcccacttcctgagcctttgINSccccccccagagttcttgcc																										TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:107977802_107977803insC	ENST00000372129.2	-	1	1848_1849	c.1772_1773insG	c.(1771-1773)ggcfs	p.G591fs		NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	591						plasma membrane	insulin receptor binding|SH3/SH2 adaptor activity|signal transducer activity			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CTGAGCCTTTGCCCCCCCCAGA	0.545													C	107977803	-	C	107977802	7	5	710	1	0	1	1	0	0	0	0	0	7900	1306	46	0	2004	0	IRS4	23	107977802	Frame_Shift_Ins	INS	-	TCGA-S9-A6WG-01A-11D-A33T-08	31101882	107977802	47292758	32	54552											
FMR1	2332	broad.mit.edu	37	chrX	147014240	147014240	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaaagctagaagctttctcGaatttgctgaagatgtaata	16	12	8	5	1	1	3	0	1	1	2	2	4	1	3	0	0	3	4	0	0	8	5			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:147014240G>A	ENST00000218200.8	+	9	1067	c.838G>A	c.(838-840)Gaa>Aaa	p.E280K	FMR1_ENST00000439526.2_Missense_Mutation_p.E280K|FMR1_ENST00000370470.1_Missense_Mutation_p.E280K|FMR1_ENST00000370477.1_Missense_Mutation_p.E280K|FMR1_ENST00000370475.4_Missense_Mutation_p.E280K|FMR1_ENST00000334557.6_Missense_Mutation_p.E280K|FMR1_ENST00000370471.3_Missense_Mutation_p.E280K|FMR1_ENST00000440235.2_5'UTR	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	280					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AAGCTTTCTCGAATTTGCTGA	0.343									Fragile X syndrome				A	147014240	G	A	147014240	3	1	710	1	0	0	0	0	1	0	0	0	6009	1059	37	1	872	1	FMR1	23	147014240	Missense_Mutation	SNP	G	TCGA-S9-A6WG-01A-11D-A33T-08	39036438	147014240	8256320	33	54553											
L1CAM	3897	broad.mit.edu	37	chrX	153133891	153133891	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttctcgattgtgctgcggggCccctgagtgatctgagttgc	4	13	14	10	2	2	3	0	3	2	0	3	4	2	3	2	2	3	2	2	2	0	3			TCGA-S9-A6WG-01A-11D-A33T-08	TCGA-S9-A6WG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a81ac59e-5603-450b-bd78-4afadd2d4692	0af70b6a-ab25-4bf4-a35d-a8498f87d5da	g.chrX:153133891C>T	ENST00000370060.1	-	14	1758	c.1569G>A	c.(1567-1569)ggG>ggA	p.G523G	L1CAM_ENST00000361981.3_Silent_p.G518G|L1CAM_ENST00000370057.3_Silent_p.G523G|L1CAM_ENST00000370055.1_Silent_p.G518G|L1CAM_ENST00000538883.1_Silent_p.G525G|L1CAM_ENST00000361699.4_Silent_p.G523G|L1CAM_ENST00000543994.1_Silent_p.G525G	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	523	Ig-like C2-type 6.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane				NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCTGCGGGGCCCCTGAGTGA	0.617													T	153133891	C	T	153133891	2	4	710	1	0	0	0	0	0	0	0	1	8647	726	26	2		2	L1CAM	23	153133891	Silent	SNP	C	TCGA-S9-A6WG-01A-11D-A33T-08	6119651	153133891	2136669	34	54554											
PLCH2	9651	broad.mit.edu	37	chr1	2436221	2436221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagctttgagggcggctccCgcagactgagccacagcctg	7	7	13	14	2	0	3	0	2	0	1	1	3	1	3	3	2	3	3	3	2	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:2436221C>T	ENST00000378486.3	+	22	4094	c.3820C>T	c.(3820-3822)Cgc>Tgc	p.R1274C	PLCH2_ENST00000419816.2_Missense_Mutation_p.R1274C|PLCH2_ENST00000378488.3_Missense_Mutation_p.R1238C|PLCH2_ENST00000449969.1_3'UTR	NM_014638.2	NP_055453.2	O75038	PLCH2_HUMAN	phospholipase C, eta 2	1274					intracellular signal transduction|lipid catabolic process	cytoplasm|plasma membrane	calcium ion binding|phosphatidylinositol phospholipase C activity|signal transducer activity			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(3)|skin(1)	20	all_cancers(77;0.000161)|all_epithelial(69;5.98e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;7.32e-16)|all_lung(118;1.15e-06)|Lung NSC(185;6.26e-05)|Renal(390;0.00571)|Breast(487;0.00832)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Medulloblastoma(700;0.151)|Lung SC(97;0.217)		Epithelial(90;1.44e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.78e-23)|GBM - Glioblastoma multiforme(42;2.8e-08)|Colorectal(212;4.19e-05)|COAD - Colon adenocarcinoma(227;0.000195)|Kidney(185;0.00034)|BRCA - Breast invasive adenocarcinoma(365;0.00443)|KIRC - Kidney renal clear cell carcinoma(229;0.00548)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.2)		GGGCGGCTCCCGCAGACTGAG	0.687													T	2436221	C	T	2436221	3	4	711	1	0	0	0	0	1	0	0	0	12115	652	23	1	3906	1	PLCH2	1	2436221	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		2436221	246814400	1	54555											
TMEM201	199953	broad.mit.edu	37	chr1	9661304	9661304	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccactgtgcccctggccCtgccacctggtggcaatggc	5	7	12	17	0	0	0	0	0	0	0	0	0	0	0	6	4	2	2	6	4	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:9661304C>T	ENST00000340305.5	+	5	757	c.748C>T	c.(748-750)Ctg>Ttg	p.L250L	TMEM201_ENST00000377376.4_Silent_p.L250L|TMEM201_ENST00000340381.6_Silent_p.L250L	NM_001010866.3	NP_001010866.1	Q5SNT2	TM201_HUMAN	transmembrane protein 201	250						integral to membrane|nuclear inner membrane				lung(3)|upper_aerodigestive_tract(1)	4	all_lung(157;0.222)	all_epithelial(116;2.09e-14)|Renal(390;0.000469)|all_lung(118;0.000521)|Lung NSC(185;0.000744)|Colorectal(325;0.0062)|Breast(348;0.0157)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.5e-08)|COAD - Colon adenocarcinoma(227;1.36e-05)|Kidney(185;0.000249)|KIRC - Kidney renal clear cell carcinoma(229;0.000911)|BRCA - Breast invasive adenocarcinoma(304;0.00185)|STAD - Stomach adenocarcinoma(132;0.00345)|READ - Rectum adenocarcinoma(331;0.0419)		GCCCCTGGCCCTGCCACCTGG	0.697													T	9661304	C	T	9661304	2	4	711	1	0	0	0	0	0	0	0	1	16226	680	24	2		2	TMEM201	1	9661304	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	7225083	9661304	239589317	2	54556											
NMNAT1	64802	broad.mit.edu	37	chr1	10042595	10042595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atgacatctcatccacaaaaAtccggagagccctcagaagg	15	6	8	12	1	2	3	2	1	1	2	5	4	4	3	3	2	1	0	3	2	3	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:10042595A>G	ENST00000377205.1	+	5	820	c.676A>G	c.(676-678)Atc>Gtc	p.I226V		NM_022787.3	NP_073624.2	Q9HAN9	NMNA1_HUMAN	nicotinamide nucleotide adenylyltransferase 1	226					water-soluble vitamin metabolic process	nucleoplasm	ATP binding|nicotinamide-nucleotide adenylyltransferase activity|nicotinate-nucleotide adenylyltransferase activity|protein binding			large_intestine(2)|lung(2)|stomach(1)	5		all_lung(284;0.000407)|Renal(390;0.000469)|Lung NSC(185;0.000577)|Colorectal(325;0.0062)|Breast(348;0.00686)|Hepatocellular(190;0.0305)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.31e-08)|COAD - Colon adenocarcinoma(227;1.54e-05)|Kidney(185;0.00028)|BRCA - Breast invasive adenocarcinoma(304;0.00032)|KIRC - Kidney renal clear cell carcinoma(229;0.00101)|STAD - Stomach adenocarcinoma(132;0.00908)|READ - Rectum adenocarcinoma(331;0.0419)		ATCCACAAAAATCCGGAGAGC	0.448													G	10042595	A	G	10042595	3	3	711	1	0	0	0	0	1	0	0	0	10574	101	4	3	690	3	NMNAT1	1	10042595	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	381291	10042595	239208026	3	54557											
UBR4	23352	broad.mit.edu	37	chr1	19523634	19523634	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccagatataataacttctcaCctgcatacagacaacttagg	15	10	5	11	0	1	2	1	0	1	2	2	2	1	2	2	1	4	1	2	1	6	6			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:19523634C>T	ENST00000375267.2	-	8	1022		c.e8+1		UBR4_ENST00000375217.2_Splice_Site|UBR4_ENST00000375226.2_Splice_Site|UBR4_ENST00000375254.3_Splice_Site			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4						interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		TAACTTCTCACCTGCATACAG	0.428													T	19523634	C	T	19523634	5	4	711	1	0	0	0	0	0	0	1	0	17006	521	18	2	14928	2	UBR4	1	19523634	Splice_Site	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	9481039	19523634	229726987	4	54558											
RIMKLA	284716	broad.mit.edu	37	chr1	42880615	42880615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctggctacaacattaacaaCaggattgcttctgagttaaa	14	11	7	9	0	1	1	0	1	1	0	1	2	1	2	1	2	5	3	1	2	6	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:42880615C>T	ENST00000431473.3	+	5	1275	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	382					protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						ACATTAACAACAGGATTGCTT	0.458													T	42880615	C	T	42880615	2	4	711	1	0	0	0	0	0	0	0	1	13456	477	17	2		2	RIMKLA	1	42880615	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23356981	42880615	206370006	5	54559											
TNNI3K	51086	broad.mit.edu	37	chr1	74954885	74954885	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttacagggaagacccgaaTtttctgaagttgtcatgaag	13	12	10	6	1	2	3	1	2	1	1	2	5	2	4	1	1	1	1	1	1	5	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:74954885T>A	ENST00000370891.2	+	24	2453	c.2437T>A	c.(2437-2439)Ttt>Att	p.F813I	LRRC53_ENST00000294635.4_Intron|FPGT-TNNI3K_ENST00000557284.2_Missense_Mutation_p.F826I|TNNI3K_ENST00000326637.3_Missense_Mutation_p.F712I	NM_001112808.2	NP_001106279.2			TNNI3 interacting kinase											cervix(1)|endometrium(3)|kidney(5)|large_intestine(21)|lung(31)|ovary(4)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	76						AAGACCCGAATTTTCTGAAGT	0.348													A	74954885	T	A	74954885	3	1	711	1	0	0	0	0	1	0	0	0	16429	1493	52	5	2575	5	TNNI3K	1	74954885	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	32074270	74954885	174295736	6	54560											
CDC7	8317	broad.mit.edu	37	chr1	91989862	91989862	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgagtataataccaattTagaaggctggaatgaggtac	15	11	11	4	0	0	4	0	3	0	1	0	5	0	5	1	3	2	3	1	3	8	6			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:91989862T>G	ENST00000428239.1	+	12	1854	c.1595T>G	c.(1594-1596)tTa>tGa	p.L532*	CDC7_ENST00000430031.2_Nonsense_Mutation_p.L504*|CDC7_ENST00000234626.6_Nonsense_Mutation_p.L532*	NM_001134420.1	NP_001127892.1	O00311	CDC7_HUMAN	cell division cycle 7	532	Protein kinase.				cell cycle checkpoint|cell division|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|positive regulation of cell proliferation|regulation of S phase	cytoplasm|nucleoplasm	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|stomach(2)	23		all_lung(203;0.0165)|Lung NSC(277;0.0562)		all cancers(265;0.00108)|Epithelial(280;0.0184)|KIRC - Kidney renal clear cell carcinoma(1967;0.124)		aATACCAATTTAGAAGGCTGG	0.388													G	91989862	T	G	91989862	4	3	711	1	0	0	0	0	0	1	0	0	3114	1764	61	5	1637	5	CDC7	1	91989862	Nonsense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	17034977	91989862	157260759	7	54561											
RPL5	6125	broad.mit.edu	37	chr1	93301832	93301832	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatgtggaaagcattgatgGtcagccaggtgccttcacct	10	10	11	10	0	2	1	2	1	0	0	2	2	2	2	3	3	3	1	3	3	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:93301832G>A	ENST00000370321.3	+	5	500	c.410G>A	c.(409-411)gGt>gAt	p.G137D		NM_000969.3	NP_000960.2	P46777	RL5_HUMAN	ribosomal protein L5	137					endocrine pancreas development|ribosomal large subunit biogenesis|rRNA processing|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	5S rRNA binding|protein binding|structural constituent of ribosome			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	9		all_lung(203;0.00265)|Lung NSC(277;0.0056)|all_neural(321;0.185)|Melanoma(281;0.192)|Glioma(108;0.203)		GBM - Glioblastoma multiforme(16;0.000305)|all cancers(265;0.000343)|Epithelial(280;0.0927)		AGCATTGATGGTCAGCCAGGT	0.483													A	93301832	G	A	93301832	3	1	711	1	0	0	0	0	1	0	0	0	13688	1261	44	2	428	2	RPL5	1	93301832	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1311970	93301832	155948789	8	54562											
SETDB1	9869	broad.mit.edu	37	chr1	150922948	150922950	+	In_Frame_Del	DEL	CCA	CCA	-																															ttgcagatcacctttaggctCcacagcctctgccccagcac																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:150922948_150922950delCCA	ENST00000271640.5	+	13	1785_1787	c.1595_1597delCCA	c.(1594-1599)tccaca>tca	p.T533del	SETDB1_ENST00000459773.1_Intron|SETDB1_ENST00000368969.4_In_Frame_Del_p.T533del	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1	533					regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCTTTAGGCTCCACAGCCTCTGC	0.576													-	150922950	CCA	-	150922948	7	5	711	1	0	1	0	1	0	0	0	0	14231	855	30	0	1641	0	SETDB1	1	150922948	In_Frame_Del	DEL	CCA	TCGA-S9-A6WH-01A-12D-A33T-08	57621116	150922948	98327673	9	54563											
SLAMF1	6504	broad.mit.edu	37	chr1	160604539	160604539	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacaggaggtgggagctgttGgctgggttcagtgggtgggt	5	10	22	4	0	1	0	1	0	0	0	1	3	1	2	0	7	1	4	0	7	0	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:160604539G>T	ENST00000302035.6	-	3	913	c.564C>A	c.(562-564)gcC>gcA	p.A188A	SLAMF1_ENST00000538290.1_Silent_p.A188A|SLAMF1_ENST00000235739.5_Silent_p.A188A|SLAMF1_ENST00000355199.3_Silent_p.A188A	NM_003037.2	NP_003028.1	Q13291	SLAF1_HUMAN	signaling lymphocytic activation molecule family member 1	188	Ig-like C2-type.				interspecies interaction between organisms|lymphocyte activation|positive regulation of cell proliferation	integral to membrane	antigen binding|transmembrane receptor activity			breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(52;4.94e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			GGGAGCTGTTGGCTGGGTTCA	0.587													T	160604539	G	T	160604539	2	4	711	1	0	0	0	0	0	0	0	1	14461	1335	47	4		4	SLAMF1	1	160604539	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	9681591	160604539	88646082	10	54564											
NOS1AP	9722	broad.mit.edu	37	chr1	162313631	162313631	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttctccttcccagagccaaGctatgagaatcgttcggacg	9	11	9	12	3	1	2	0	1	1	2	5	4	2	3	3	1	2	2	3	1	3	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:162313631G>A	ENST00000361897.5	+	6	862	c.460G>A	c.(460-462)Gct>Act	p.A154T	NOS1AP_ENST00000530878.1_Missense_Mutation_p.A149T	NM_001164757.1|NM_014697.2	NP_001158229.1|NP_055512.1	O75052	CAPON_HUMAN	nitric oxide synthase 1 (neuronal) adaptor protein	154	PID.				regulation of apoptosis|regulation of nitric oxide biosynthetic process|regulation of nitric-oxide synthase activity		nitric-oxide synthase binding|PDZ domain binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(2)	32	all_hematologic(112;0.203)		BRCA - Breast invasive adenocarcinoma(70;0.0537)			CCAGAGCCAAGCTATGAGAAT	0.537													A	162313631	G	A	162313631	3	1	711	1	0	0	0	0	1	0	0	0	10618	971	34	2	482	2	NOS1AP	1	162313631	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1709092	162313631	86936990	11	54565											
C1orf115	79762	broad.mit.edu	37	chr1	220870064	220870064	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gccaccagcgtggtatccttCgtgcgctaatgggagctgct	6	10	13	12	3	0	0	0	0	0	0	2	1	1	1	3	2	4	4	3	2	2	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:220870064C>T	ENST00000294889.5	+	2	978	c.420C>T	c.(418-420)ttC>ttT	p.F140F		NM_024709.4	NP_078985.3	Q9H7X2	CA115_HUMAN	chromosome 1 open reading frame 115	140						integral to membrane				large_intestine(1)|lung(1)	2				GBM - Glioblastoma multiforme(131;0.0273)		TGGTATCCTTCGTGCGCTAAT	0.592													T	220870064	C	T	220870064	2	4	711	1	0	0	0	0	0	0	0	1	2008	883	31	1		1	C1orf115	1	220870064	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	58556433	220870064	28380557	12	54566											
LYST	1130	broad.mit.edu	37	chr1	235950608	235950608	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atttgcttgggaggaaaataTtctcctgtgattcaacctgt	10	15	9	7	0	2	1	1	1	1	0	3	3	2	3	2	2	2	1	2	2	4	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:235950608T>C	ENST00000389794.3	-	14	4928	c.4754A>G	c.(4753-4755)aAt>aGt	p.N1585S	LYST_ENST00000389793.2_Missense_Mutation_p.N1585S|LYST_ENST00000536965.1_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator	1585					defense response to bacterium|defense response to protozoan|defense response to virus|endosome to lysosome transport via multivesicular body sorting pathway|leukocyte chemotaxis|mast cell secretory granule organization|melanosome organization|natural killer cell mediated cytotoxicity|protein transport	cytoplasm|microtubule cytoskeleton	protein binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			GAGGAAAATATTCTCCTGTGA	0.413													C	235950608	T	C	235950608	3	2	711	1	0	0	0	0	1	0	0	0	9199	1493	52	3	6811	3	LYST	1	235950608	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	15080544	235950608	13300013	13	54567											
OR2T3	343173	broad.mit.edu	37	chr1	248637146	248637146	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gttgatggtttgttgctcacCcccattaccatgagcttccc	6	14	8	13	0	1	2	1	2	0	0	2	2	2	2	4	1	3	5	4	1	1	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr1:248637146C>T	ENST00000359594.2	+	1	520	c.495C>T	c.(493-495)acC>acT	p.T165T		NM_001005495.1	NP_001005495.1	Q8NH03	OR2T3_HUMAN	olfactory receptor, family 2, subfamily T, member 3	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(5)|lung(19)|ovary(1)|prostate(1)|skin(3)	31	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TGTTGCTCACCCCCATTACCA	0.537													T	248637146	C	T	248637146	2	4	711	1	0	0	0	0	0	0	0	1	11099	610	22	2		2	OR2T3	1	248637146	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	12686538	248637146	613475	14	54568											
ACTR2	10097	broad.mit.edu	37	chr2	65467018	65467018	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatatgcaggctctaacttTccagaacacatcttcccagc	11	10	7	13	0	2	1	0	0	2	1	4	2	4	2	2	2	4	2	2	2	3	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:65467018T>C	ENST00000260641.5	+	2	238	c.81T>C	c.(79-81)ttT>ttC	p.F27F	ACTR2_ENST00000542850.1_5'UTR|ACTR2_ENST00000476840.1_3'UTR|ACTR2_ENST00000377982.4_Silent_p.F27F	NM_005722.3	NP_005713.1	P61160	ARP2_HUMAN	ARP2 actin-related protein 2 homolog (yeast)	27					cellular component movement	Arp2/3 protein complex|cell projection|cytoplasm	actin binding|ATP binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(3)|lung(1)|prostate(1)	12						GCTCTAACTTTCCAGAACACA	0.343													C	65467018	T	C	65467018	2	2	711	1	0	0	0	0	0	0	0	1	211	1780	62	3		3	ACTR2	2	65467018	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08		65467018	177732355	15	54569											
CCDC142	84865	broad.mit.edu	37	chr2	74709771	74709771	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatcagcctcgtagtccTcgctcacatccgccggcgtc	6	8	9	18	5	2	0	2	0	0	0	7	0	4	0	4	1	2	3	4	1	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:74709771T>G	ENST00000393965.3	-	1	590	c.194A>C	c.(193-195)gAg>gCg	p.E65A	CCDC142_ENST00000471713.1_Intron|CCDC142_ENST00000290418.4_Missense_Mutation_p.E65A	NM_032779.3	NP_116168.3	Q17RM4	CC142_HUMAN	coiled-coil domain containing 142	65										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	16						CTCGTAGTCCTCGCTCACATC	0.716													G	74709771	T	G	74709771	3	3	711	1	0	0	0	0	1	0	0	0	2802	1551	54	5	2073	5	CCDC142	2	74709771	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	9242753	74709771	168489602	16	54570											
GGCX	2677	broad.mit.edu	37	chr2	85777115	85777115	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggattagaatgtgaagaaTccgtgtttgagggattcagt	12	12	14	3	1	1	4	1	2	0	2	2	7	2	6	1	2	0	1	1	2	4	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:85777115T>G	ENST00000233838.4	-	15	2299	c.2219A>C	c.(2218-2220)gAt>gCt	p.D740A	GGCX_ENST00000430215.3_Missense_Mutation_p.D683A	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	ATGTGAAGAATCCGTGTTTGA	0.507													G	85777115	T	G	85777115	3	3	711	1	0	0	0	0	1	0	0	0	6412	1435	50	5	61	5	GGCX	2	85777115	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	11067344	85777115	157422258	17	54571											
GCC2	9648	broad.mit.edu	37	chr2	109109230	109109230	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctcttccagcttaagaaTgaaccgaccacaagaagtat	15	8	7	11	1	1	3	0	1	1	2	2	4	2	3	3	0	3	3	3	0	6	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:109109230T>A	ENST00000309863.6	+	19	5145	c.4431T>A	c.(4429-4431)aaT>aaA	p.N1477K		NM_181453.3	NP_852118	Q8IWJ2	GCC2_HUMAN	GRIP and coiled-coil domain containing 2	1477					Golgi ribbon formation|late endosome to Golgi transport|microtubule anchoring|microtubule organizing center organization|protein localization in Golgi apparatus|protein targeting to lysosome|recycling endosome to Golgi transport|regulation of protein exit from endoplasmic reticulum	membrane|trans-Golgi network	identical protein binding			breast(8)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						AGCTTAAGAATGAACCGACCA	0.388													A	109109230	T	A	109109230	3	1	711	1	0	0	0	0	1	0	0	0	6340	1461	51	5	4505	5	GCC2	2	109109230	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	23332115	109109230	134090143	18	54572											
TTN	7273	broad.mit.edu	37	chr2	179615659	179615659	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttactagaatttcaccatatAaatggtcttttggtagactt	12	17	6	6	0	2	2	1	0	1	2	2	2	2	2	1	2	1	1	1	2	7	9			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:179615659A>G	ENST00000360870.5	-	46	11690	c.11468T>C	c.(11467-11469)tTa>tCa	p.L3823S	TTN_ENST00000591111.1_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	9657							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACCATATAAATGGTCTTT	0.363													G	179615659	A	G	179615659	3	3	711	1	0	0	0	0	1	0	0	0	16837	372	13	3	98829	3	TTN	2	179615659	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	70506429	179615659	63583714	19	54573											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	711	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	29497453	209113112	34086261	20	54574											
IHH	3549	broad.mit.edu	37	chr2	219920186	219920186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagcggggcgtaggcccCgagggccacgtgtgtagaga	7	6	19	9	4	0	2	0	1	0	1	0	4	0	2	3	4	1	2	3	4	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr2:219920186C>T	ENST00000295731.6	-	3	978	c.979G>A	c.(979-981)Ggg>Agg	p.G327R		NM_002181.3	NP_002172.2	Q14623	IHH_HUMAN	indian hedgehog						cell-cell signaling|intein-mediated protein splicing|proteolysis	extracellular space|plasma membrane	cholesterol binding|patched binding|peptidase activity			breast(1)|endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)	14		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000188)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCGTAGGCCCCGAGGGCCACG	0.672													T	219920186	C	T	219920186	3	4	711	1	0	0	0	0	1	0	0	0	7665	652	23	1	260	1	IHH	2	219920186	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	10807074	219920186	23279187	21	54575											
HRH1	3269	broad.mit.edu	37	chr3	11301252	11301252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcagacctcggtgcgccgaGaggacaagtgtgagacagac	12	4	15	10	3	0	4	0	1	0	4	1	7	0	5	2	2	2	1	2	2	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:11301252G>A	ENST00000397056.1	+	3	720	c.529G>A	c.(529-531)Gag>Aag	p.E177K	HRH1_ENST00000431010.2_Missense_Mutation_p.E177K|HRH1_ENST00000438284.2_Missense_Mutation_p.E177K	NM_000861.3|NM_001098211.1	NP_000852.1|NP_001091681.1	P35367	HRH1_HUMAN	histamine receptor H1	177					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|inflammatory response	cytoplasm|integral to plasma membrane|nucleus	histamine receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25					Aceprometazine(DB01615)|Astemizole(DB00637)|Azatadine(DB00719)|Azelastine(DB00972)|Benzquinamide(DB00767)|Bepotastine(DB04890)|Bromodiphenhydramine(DB01237)|Brompheniramine(DB00835)|Buclizine(DB00354)|Carbinoxamine(DB00748)|Cetirizine(DB00341)|Chlophedianol(DB04837)|Chlorpheniramine(DB01114)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clemastine(DB00283)|Clozapine(DB00363)|Cyclizine(DB01176)|Cyproheptadine(DB00434)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexbrompheniramine(DB00405)|Dimenhydrinate(DB00985)|Diphenhydramine(DB01075)|Diphenylpyraline(DB01146)|Doxepin(DB01142)|Doxylamine(DB00366)|Emedastine(DB01084)|Epinastine(DB00751)|Fexofenadine(DB00950)|Flunarizine(DB04841)|Histamine Phosphate(DB00667)|Hydroxyzine(DB00557)|Ketotifen(DB00920)|Levocabastine(DB01106)|Loratadine(DB00455)|Maprotiline(DB00934)|Meclizine(DB00737)|Mequitazine(DB01071)|Methdilazine(DB00902)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Mirtazapine(DB00370)|Nedocromil(DB00716)|Olanzapine(DB00334)|Olopatadine(DB00768)|Orphenadrine(DB01173)|Pemirolast(DB00885)|Phenindamine(DB01619)|Pheniramine(DB01620)|Prochlorperazine(DB00433)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Terfenadine(DB00342)|Thiethylperazine(DB00372)|Trazodone(DB00656)|Trimeprazine(DB01246)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Ziprasidone(DB00246)	GGTGCGCCGAGAGGACAAGTG	0.522													A	11301252	G	A	11301252	3	1	711	1	0	0	0	0	1	0	0	0	7410	943	33	2	531	2	HRH1	3	11301252	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		11301252	186721178	22	54576											
SATB1	6304	broad.mit.edu	37	chr3	18428052	18428052	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggtttaccagcaaagactGggatgcagtcttggggtcct	10	10	13	8	0	1	1	0	0	1	1	2	2	2	2	2	4	3	3	2	4	3	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:18428052G>A	ENST00000338745.6	-	8	2992	c.1258C>T	c.(1258-1260)Cag>Tag	p.Q420*	TBC1D5_ENST00000414318.2_Intron|SATB1_ENST00000454909.2_Nonsense_Mutation_p.Q420*|SATB1_ENST00000417717.2_Nonsense_Mutation_p.Q420*	NM_002971.4	NP_002962.1	Q01826	SATB1_HUMAN	SATB homeobox 1	420					cellular component disassembly involved in apoptosis|interspecies interaction between organisms|negative regulation of transcription from RNA polymerase II promoter	nuclear matrix|PML body	double-stranded DNA binding|sequence-specific DNA binding			NS(2)|breast(2)|endometrium(6)|large_intestine(4)|lung(10)|ovary(1)|skin(5)|upper_aerodigestive_tract(2)	32						AGCAAAGACTGGGATGCAGTC	0.502													A	18428052	G	A	18428052	4	1	711	1	0	0	0	0	0	1	0	0	13945	1357	47	2	1049	2	SATB1	3	18428052	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	7126800	18428052	179594378	23	54577											
QARS	5859	broad.mit.edu	37	chr3	49139864	49139866	+	In_Frame_Del	DEL	CTC	CTC	-																															atccctaccttgaacttcttCtccagatcagcctccaactt																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49139864_49139866delCTC	ENST00000306125.6	-	6	893_895	c.556_558delGAG	c.(556-558)gagdel	p.E186del	QARS_ENST00000414533.1_In_Frame_Del_p.E175del|QARS_ENST00000470225.1_5'UTR|QARS_ENST00000420147.2_In_Frame_Del_p.E204del			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	186					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	TGAACTTCTTCTCCAGATCAGCC	0.576													-	49139866	CTC	-	49139864	7	5	711	1	0	1	0	1	0	0	0	0	12959	912	32	0	1845	0	QARS	3	49139864	In_Frame_Del	DEL	CTC	TCGA-S9-A6WH-01A-12D-A33T-08	30711812	49139864	148882566	24	54578											
USP4	7375	broad.mit.edu	37	chr3	49365164	49365166	+	In_Frame_Del	DEL	TAG	TAG	-																															tctacacagccgtaccagttTagtagtttattccacgcctc																								rs143074429	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:49365164_49365166delTAG	ENST00000351842.4	-	3	321_323	c.313_315delCTA	c.(313-315)ctadel	p.L105del	USP4_ENST00000265560.4_In_Frame_Del_p.L105del|USP4_ENST00000415188.1_In_Frame_Del_p.L105del|USP4_ENST00000416417.1_In_Frame_Del_p.L105del	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	105	DUSP.				negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		CGTACCAGTTTAGTAGTTTATTC	0.443													-	49365166	TAG	-	49365164	7	5	711	1	0	1	0	1	0	0	0	0	17173	1741	61	0	2656	0	USP4	3	49365164	In_Frame_Del	DEL	TAG	TCGA-S9-A6WH-01A-12D-A33T-08	225300	49365164	148657266	25	54579											
RYBP	23429	broad.mit.edu	37	chr3	72427764	72427764	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccaactgctgtgcagtgctCctgtccacgtttttcagccg	5	12	10	14	2	1	0	1	0	0	0	3	0	3	0	4	0	5	4	4	0	1	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:72427764C>G	ENST00000477973.2	-	4	723	c.724G>C	c.(724-726)Gag>Cag	p.E242Q		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein						apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GTGCAGTGCTCCTGTCCACGT	0.483													G	72427764	C	G	72427764	3	3	711	1	0	0	0	0	1	0	0	0	13857	854	30	4	231	4	RYBP	3	72427764	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23062600	72427764	125594666	26	54580											
PCCB	5096	broad.mit.edu	37	chr3	136046565	136046565	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accgcagagattgcagtcatGggagcaaaggtgagggcctc	11	6	15	9	1	1	2	1	1	0	1	2	4	1	3	2	3	2	3	2	3	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:136046565G>A	ENST00000471595.1	+	13	1407	c.1389G>A	c.(1387-1389)atG>atA	p.M463I	PCCB_ENST00000251654.4_Missense_Mutation_p.M463I|PCCB_ENST00000462637.1_Missense_Mutation_p.M440I|PCCB_ENST00000478469.1_Intron|PCCB_ENST00000482086.1_Missense_Mutation_p.M347I|PCCB_ENST00000469217.1_Missense_Mutation_p.M483I|PCCB_ENST00000468777.1_Missense_Mutation_p.M494I|PCCB_ENST00000466072.1_Missense_Mutation_p.M483I|PCCB_ENST00000490504.1_Missense_Mutation_p.M406I|PCCB_ENST00000474833.1_3'UTR|PCCB_ENST00000483687.1_Missense_Mutation_p.M444I			P05166	PCCB_HUMAN	propionyl CoA carboxylase, beta polypeptide	463	Carboxyltransferase.				fatty acid beta-oxidation	mitochondrial matrix	ATP binding|propionyl-CoA carboxylase activity			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|urinary_tract(1)	25					Biotin(DB00121)|L-Valine(DB00161)	TTGCAGTCATGGGAGCAAAGG	0.522													A	136046565	G	A	136046565	3	1	711	1	0	0	0	0	1	0	0	0	11581	1348	47	2	1503	2	PCCB	3	136046565	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	63618801	136046565	61975865	27	54581											
MLF1	4291	broad.mit.edu	37	chr3	158314692	158314692	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaatggaccaaatggtGtcaaatatgagaaactatat	18	9	8	6	0	1	2	1	1	0	2	1	4	1	3	1	2	1	0	1	2	7	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:158314692G>C	ENST00000359117.5	+	3	398	c.162G>C	c.(160-162)gtG>gtC	p.V54V	MLF1_ENST00000392822.3_Silent_p.V110V|MLF1_ENST00000484955.1_Silent_p.V54V|MLF1_ENST00000469452.1_Silent_p.V54V|MLF1_ENST00000482628.1_Silent_p.V54V|MLF1_ENST00000355893.5_Silent_p.V79V|MLF1_ENST00000497004.1_3'UTR|MLF1_ENST00000478894.2_Silent_p.V69V|MLF1_ENST00000471745.1_Silent_p.V69V	NM_001130156.2	NP_001123628.1	P58340	MLF1_HUMAN	myeloid leukemia factor 1	79	Interaction with COPS3.				cell cycle arrest|myeloid progenitor cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein domain specific binding			large_intestine(3)	3		Melanoma(1037;0.000458)|Prostate(884;0.0235)|all_neural(597;0.0299)	Lung(72;0.00199)|LUSC - Lung squamous cell carcinoma(72;0.00256)			ACCAAATGGTGTCAAATATGA	0.313			T	NPM1	AML								C	158314692	G	C	158314692	2	2	711	1	0	0	0	0	0	0	0	1	9689	1364	48	4		4	MLF1	3	158314692	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	22268127	158314692	39707738	28	54582											
TNIK	23043	broad.mit.edu	37	chr3	170843805	170843805	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgggatctgagttctggcGtggcatctccacgcggtggg	4	10	18	9	3	3	1	0	1	3	0	4	2	3	2	1	6	0	2	1	6	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:170843805G>A	ENST00000436636.2	-	17	2253	c.1909C>T	c.(1909-1911)Cgc>Tgc	p.R637C	TNIK_ENST00000538048.1_Missense_Mutation_p.R582C|TNIK_ENST00000357327.5_Missense_Mutation_p.R608C|TNIK_ENST00000284483.8_Missense_Mutation_p.R637C|TNIK_ENST00000488470.1_Missense_Mutation_p.R582C|TNIK_ENST00000470834.1_Missense_Mutation_p.R608C|TNIK_ENST00000369326.5_Missense_Mutation_p.R608C|TNIK_ENST00000475336.1_Missense_Mutation_p.R553C|TNIK_ENST00000341852.6_Missense_Mutation_p.R553C|TNIK_ENST00000460047.1_Missense_Mutation_p.R582C	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	637	Mediates interaction with NEDD4.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.R637C(2)		cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			GAGTTCTGGCGTGGCATCTCC	0.572													A	170843805	G	A	170843805	3	1	711	1	0	0	0	0	1	0	0	0	16413	1145	40	1	2241	1	TNIK	3	170843805	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	12529113	170843805	27178625	29	54583											
ATP13A5	344905	broad.mit.edu	37	chr3	193019013	193019013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcatacccaatagagcagtAatgcactgataaactggatt	15	11	7	8	0	1	2	1	1	0	1	1	3	1	3	1	1	4	3	1	1	6	6			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr3:193019013A>G	ENST00000342358.4	-	24	2879	c.2762T>C	c.(2761-2763)tTa>tCa	p.L921S	ATP13A5_ENST00000495496.1_5'UTR	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5	921					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		ATAGAGCAGTAATGCACTGAT	0.348													G	193019013	A	G	193019013	3	3	711	1	0	0	0	0	1	0	0	0	1132	372	13	3	920	3	ATP13A5	3	193019013	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	22175208	193019013	5003417	30	54584											
ADH1C	126	broad.mit.edu	37	chr4	100268753	100268754	+	RNA	INS	-	-	ATTTAT																															cactttaaaaaaatttaacaINSatttatactttccttgacaa																								rs35500540	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:100268753_100268754insATTTAT	ENST00000515683.1	-	0	472				ADH1C_ENST00000510055.1_RNA	NM_000669.3	NP_000660.1	P00326	ADH1G_HUMAN	alcohol dehydrogenase 1C (class I), gamma polypeptide						ethanol oxidation|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|zinc ion binding								OV - Ovarian serous cystadenocarcinoma(123;1.08e-07)	Fomepizole(DB01213)|NADH(DB00157)	AAAATTTAACAATTTATACTTT	0.243													ATTTAT	100268754	-	ATTTAT	100268753	6	5	711	0	1	1	1	0	0	0	0	0	309	145	5	0		0	ADH1C	4	100268753	RNA	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08		100268753	90885523	31	54585											
C4orf21	55345	broad.mit.edu	37	chr4	113539732	113539732	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcctagaattattactaGattcaatttggagatgtttc	13	16	7	5	0	1	4	1	0	0	4	3	5	2	4	1	1	1	1	1	1	6	7			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr4:113539732G>T	ENST00000505019.1	-	6	1591	c.1466C>A	c.(1465-1467)tCt>tAt	p.S489Y	C4orf21_ENST00000445203.2_Missense_Mutation_p.S458Y|C4orf21_ENST00000309071.5_Missense_Mutation_p.S489Y	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	489										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTATTACTAGATTCAATTTG	0.333													T	113539732	G	T	113539732	3	4	711	1	0	0	0	0	1	0	0	0	2276	942	33	4	4940	4	C4orf21	4	113539732	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	13270979	113539732	77614544	32	54586											
LMBRD2	92255	broad.mit.edu	37	chr5	36124351	36124351	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattatacttgatgctttcaTtcactttacgaacctcctat	10	17	4	10	1	2	1	2	1	0	0	3	3	3	1	2	0	4	1	2	0	5	8			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:36124351T>A	ENST00000296603.4	-	7	1226	c.764A>T	c.(763-765)aAt>aTt	p.N255I		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	255						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			GATGCTTTCATTCACTTTACG	0.274													A	36124351	T	A	36124351	3	1	711	1	0	0	0	0	1	0	0	0	8904	1493	52	5	1371	5	LMBRD2	5	36124351	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08		36124351	144790909	33	54587											
RHOBTB3	22836	broad.mit.edu	37	chr5	95088046	95088046	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattagaccacctcaacttgAacaaccaggtgcatttctta	14	11	5	11	0	2	2	1	1	1	1	2	2	2	2	3	1	4	1	3	1	6	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:95088046A>C	ENST00000379982.3	+	5	1182	c.674A>C	c.(673-675)gAa>gCa	p.E225A	GLRX_ENST00000508780.1_Intron	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3	225					retrograde transport, endosome to Golgi	Golgi apparatus	ATP binding|ATPase activity|Rab GTPase binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		CCTCAACTTGAACAACCAGGT	0.348													C	95088046	A	C	95088046	3	2	711	1	0	0	0	0	1	0	0	0	13424	246	9	5	692	5	RHOBTB3	5	95088046	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	58963695	95088046	85827214	34	54588											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810520	140810520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcgcggagcgcggagtccGcatcatccccagaggtagga	8	5	15	13	5	1	1	1	0	0	1	4	4	3	4	3	4	1	3	3	4	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:140810520G>A	ENST00000252085.3	+	1	336	c.194G>A	c.(193-195)cGc>cAc	p.R65H	PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCGGAGTCCGCATCATCCCC	0.657													A	140810520	G	A	140810520	3	1	711	1	0	0	0	0	1	0	0	0	11629	1087	38	1	196	1	PCDHGA12	5	140810520	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	45722474	140810520	40104740	35	54589											
PDE6A	5145	broad.mit.edu	37	chr5	149323960	149323960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtacatgaacaggctcatgcGgtctgcctgcaggaggaagc	10	7	14	10	1	2	1	1	1	1	0	2	3	2	3	1	4	6	3	1	4	3	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr5:149323960G>A	ENST00000255266.5	-	1	396	c.277C>T	c.(277-279)Cgc>Tgc	p.R93C		NM_000440.2	NP_000431.2	P16499	PDE6A_HUMAN	phosphodiesterase 6A, cGMP-specific, rod, alpha	93	GAF 1.				cytosolic calcium ion homeostasis|GMP metabolic process|platelet activation|signal transduction|visual perception	cytosol|plasma membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)	44			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGGCTCATGCGGTCTGCCTGC	0.517													A	149323960	G	A	149323960	3	1	711	1	0	0	0	0	1	0	0	0	11721	1116	39	1	2393	1	PDE6A	5	149323960	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	8513440	149323960	31591300	36	54590											
SERPINB9	5272	broad.mit.edu	37	chr6	2890403	2890403	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaagtgcaccctttatggCgatgagaacctgccacagaa	12	8	11	10	1	0	2	0	1	0	2	0	4	0	2	3	2	3	2	3	2	4	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:2890403C>T	ENST00000380698.4	-	7	1214	c.1125G>A	c.(1123-1125)tcG>tcA	p.S375S		NM_004155.5	NP_004146.1	P50453	SPB9_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 9	375					anti-apoptosis|cellular response to estrogen stimulus|immune response|mast cell mediated immunity|regulation of proteolysis	cytosol|extracellular space|nucleus	caspase inhibitor activity|protease binding|serine-type endopeptidase inhibitor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(5)|pancreas(1)|prostate(1)	15	Ovarian(93;0.0412)	all_hematologic(90;0.108)				CCCTTTATGGCGATGAGAACC	0.542													T	2890403	C	T	2890403	2	4	711	1	0	0	0	0	0	0	0	1	14201	755	27	1		1	SERPINB9	6	2890403	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		2890403	168224664	37	54591											
DAAM2	23500	broad.mit.edu	37	chr6	39846201	39846201	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacatggagcttgtgagccGtctggagaggaaggagcggg	10	6	18	7	2	1	2	0	1	1	1	1	6	1	5	1	5	3	1	1	5	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:39846201G>A	ENST00000538976.1	+	13	1564	c.1382G>A	c.(1381-1383)cGt>cAt	p.R461H	DAAM2_ENST00000398904.2_Missense_Mutation_p.R461H|DAAM2_ENST00000274867.4_Missense_Mutation_p.R461H	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	461					actin cytoskeleton organization		actin binding|Rho GTPase binding			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					CTTGTGAGCCGTCTGGAGAGG	0.547													A	39846201	G	A	39846201	3	1	711	1	0	0	0	0	1	0	0	0	4250	1145	40	1	1428	1	DAAM2	6	39846201	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	36955798	39846201	131268866	38	54592											
XPO5	57510	broad.mit.edu	37	chr6	43496612	43496612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgaggatgggggataccaggGcttcatagtgctctggggga	8	8	18	7	1	2	0	1	0	1	0	2	4	2	3	1	6	2	2	1	6	2	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:43496612G>T	ENST00000265351.7	-	24	2939	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	910					gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			GGATACCAGGGCTTCATAGTG	0.478													T	43496612	G	T	43496612	3	4	711	1	0	0	0	0	1	0	0	0	17549	1203	42	4	921	4	XPO5	6	43496612	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	3650411	43496612	127618455	39	54593											
TDRD6	221400	broad.mit.edu	37	chr6	46656908	46656908	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccaggtgcttcatgtggactAtggaaggaaggagttagtga	11	10	15	5	0	1	1	1	1	0	0	1	5	1	5	1	5	1	2	1	5	4	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:46656908A>G	ENST00000544460.1	+	1	1297	c.1043A>G	c.(1042-1044)tAt>tGt	p.Y348C	TDRD6_ENST00000316081.6_Missense_Mutation_p.Y348C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	348	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CATGTGGACTATGGAAGGAAG	0.532													G	46656908	A	G	46656908	3	3	711	1	0	0	0	0	1	0	0	0	15834	449	16	3	1045	3	TDRD6	6	46656908	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	3160296	46656908	124458159	40	54594											
RNGTT	8732	broad.mit.edu	37	chr6	89600293	89600293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgcttgtccatggaaacagGctgtgctccagggaatccag	9	10	12	10	0	0	0	0	0	0	0	3	2	3	2	3	3	3	3	3	3	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:89600293G>A	ENST00000369485.4	-	8	1003	c.817C>T	c.(817-819)Cct>Tct	p.P273S	RNGTT_ENST00000265607.6_Missense_Mutation_p.P273S|RNGTT_ENST00000538899.1_Missense_Mutation_p.P213S|RNGTT_ENST00000369475.3_Missense_Mutation_p.P273S	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	273	GTase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		ATGGAAACAGGCTGTGCTCCA	0.383													A	89600293	G	A	89600293	3	1	711	1	0	0	0	0	1	0	0	0	13594	1203	42	2	1012	2	RNGTT	6	89600293	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	42943385	89600293	81514774	41	54595											
SIM1	6492	broad.mit.edu	37	chr6	100868816	100868816	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgatccagggagagctgcagCcctttgtattctgtgtctct	6	14	11	10	0	2	2	0	1	2	1	4	3	3	2	2	1	3	3	2	1	1	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:100868816C>A	ENST00000369208.3	-	10	1799	c.1017G>T	c.(1015-1017)ggG>ggT	p.G339G	SIM1_ENST00000262901.4_Silent_p.G339G			P81133	SIM1_HUMAN	single-minded family bHLH transcription factor 1	339	Single-minded C-terminal.				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity			breast(1)|central_nervous_system(4)|endometrium(5)|kidney(1)|large_intestine(15)|lung(34)|ovary(4)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	79		all_cancers(76;9.88e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.0248)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0774)		AGAGCTGCAGCCCTTTGTATT	0.502													A	100868816	C	A	100868816	2	1	711	1	0	0	0	0	0	0	0	1	14417	726	26	4		4	SIM1	6	100868816	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	11268523	100868816	70246251	42	54596											
SEC63	11231	broad.mit.edu	37	chr6	108214765	108214765	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtgtaggttttttttttAaaggtttctttttttttgat	6	25	8	2	0	1	1	0	1	1	0	1	1	1	1	0	3	0	3	0	3	3	11			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:108214765A>T	ENST00000369002.4	-	16	1774	c.1595T>A	c.(1594-1596)tTa>tAa	p.L532*		NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)	532	SEC63 1.				protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding	p.L532*(2)		endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		TTTTTTTTTTAAAGGTTTCTT	0.368													T	108214765	A	T	108214765	4	4	711	1	0	0	0	0	0	1	0	0	14098	372	13	5	711	5	SEC63	6	108214765	Nonsense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	7345949	108214765	62900302	43	54597											
SASH1	23328	broad.mit.edu	37	chr6	148865734	148865734	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccagcactggctcccaggcCtctctcagggcaggcgcctg	5	6	12	18	1	2	0	1	0	1	0	4	0	3	0	4	4	1	3	4	4	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr6:148865734C>G	ENST00000367467.3	+	18	3603	c.3128C>G	c.(3127-3129)cCt>cGt	p.P1043R		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	1043	Pro-rich.						protein binding			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		GCTCCCAGGCCTCTCTCAGGG	0.697													G	148865734	C	G	148865734	3	3	711	1	0	0	0	0	1	0	0	0	13940	681	24	4	3198	4	SASH1	6	148865734	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	40650969	148865734	22249333	44	54598											
ABCA13	154664	broad.mit.edu	37	chr7	48349704	48349704	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctgattgtgttgctgaGtcgaaacttggatgtgcgag	7	15	13	6	2	1	2	0	2	1	0	3	5	1	3	0	1	3	2	0	1	1	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:48349704G>C	ENST00000435803.1	+	24	9506	c.9482G>C	c.(9481-9483)aGt>aCt	p.S3161T		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	3161					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GTGTTGCTGAGTCGAAACTTG	0.512													C	48349704	G	C	48349704	3	2	711	1	0	0	0	0	1	0	0	0	31	1029	36	4	9405	4	ABCA13	7	48349704	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		48349704	110788959	45	54599											
CACNA2D1	781	broad.mit.edu	37	chr7	81598290	81598290	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ataggcaccaggtccactttCtaaaaaaaaaataaataaat	21	9	4	7	0	1	0	0	0	1	0	2	0	2	0	2	2	0	1	2	2	10	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:81598290C>G	ENST00000356860.3	-	29	2647		c.e29-1		CACNA2D1_ENST00000535308.1_Intron|CACNA2D1_ENST00000356253.5_Splice_Site	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1							voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	GGTCCACTTTCtaaaaaaaaa	0.284													G	81598290	C	G	81598290	5	3	711	1	0	0	0	0	0	0	1	0	2574	927	32	4	1011	4	CACNA2D1	7	81598290	Splice_Site	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	33248586	81598290	77540373	46	54600											
CYP3A5	1577	broad.mit.edu	37	chr7	99250313	99250313	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcttgcaagtcctctcaagTctaatagcaactgggaataa	13	12	7	9	0	3	0	1	0	3	0	5	1	4	1	1	1	3	2	1	1	7	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:99250313T>C	ENST00000343703.5	-	12	1472	c.1086A>G	c.(1084-1086)agA>agG	p.R362R	CYP3A5_ENST00000339843.2_3'UTR|CYP3A5_ENST00000222982.4_Silent_p.R372R					cytochrome P450, family 3, subfamily A, polypeptide 5											NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_epithelial(64;2.77e-08)|Lung NSC(181;0.00396)|all_lung(186;0.00659)|Esophageal squamous(72;0.0166)					TCCTCTCAAGTCTAATAGCAA	0.443													C	99250313	T	C	99250313	2	2	711	1	0	0	0	0	0	0	0	1	4213	1664	58	3		3	CYP3A5	7	99250313	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	17652023	99250313	59888350	47	54601											
MEPCE	56257	broad.mit.edu	37	chr7	100028465	100028465	+	Frame_Shift_Del	DEL	C	C	-																															gcaccaccagcagcagcaggCagccggagggagtgagagtc																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr7:100028465delC	ENST00000310512.2	+	1	1212	c.824delC	c.(823-825)gcafs	p.A276fs	MEPCE_ENST00000414441.1_5'UTR	NM_019606.5	NP_062552.2	Q7L2J0	MEPCE_HUMAN	methylphosphate capping enzyme	276							methyltransferase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(2)|lung(9)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	24	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CAGCAGCAGGCAGCCGGAGGG	0.652													-	100028465	C	-	100028465	7	5	711	1	0	1	0	1	0	0	0	0	9552	710	25	0	826	0	MEPCE	7	100028465	Frame_Shift_Del	DEL	C	TCGA-S9-A6WH-01A-12D-A33T-08	778152	100028465	59110198	48	54602											
PTK2B	2185	broad.mit.edu	37	chr8	27279865	27279865	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tacgccagcaaggtcagcgaGggcatggccctgcagctggg	8	5	16	12	2	1	0	1	0	0	0	1	1	1	0	2	4	5	4	2	4	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:27279865G>A	ENST00000397501.1	+	10	1324	c.516G>A	c.(514-516)gaG>gaA	p.E172E	PTK2B_ENST00000338238.4_Silent_p.E172E|PTK2B_ENST00000346049.5_Silent_p.E172E|PTK2B_ENST00000517339.1_Silent_p.E172E|PTK2B_ENST00000544172.1_Silent_p.E172E|PTK2B_ENST00000420218.2_Silent_p.E172E	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	172	FERM.				apoptosis|bone resorption|positive regulation of cell proliferation|signal complex assembly	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|signal transducer activity			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)		AGGTCAGCGAGGGCATGGCCC	0.652													A	27279865	G	A	27279865	2	1	711	1	0	0	0	0	0	0	0	1	12849	991	35	2		2	PTK2B	8	27279865	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		27279865	119084157	49	54603											
KCNU1	157855	broad.mit.edu	37	chr8	36793054	36793054	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgatcacccggccagcCaatgagttcaagctgctgcc	8	10	10	13	1	2	2	2	2	0	0	2	2	2	2	4	1	4	3	4	1	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:36793054C>T	ENST00000399881.3	+	27	3103	c.3066C>T	c.(3064-3066)gcC>gcT	p.A1022A		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	1022						voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		CCCGGCCAGCCAATGAGTTCA	0.458													T	36793054	C	T	36793054	2	4	711	1	0	0	0	0	0	0	0	1	8151	581	21	2		2	KCNU1	8	36793054	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	9513189	36793054	109570968	50	54604											
RAB11FIP1	80223	broad.mit.edu	37	chr8	37734844	37734844	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcatcatcactgtcgacCgaaggtgtcgtgctagggat	9	10	12	10	3	3	0	3	0	0	0	5	4	3	1	1	2	1	1	1	2	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:37734844C>T	ENST00000330843.4	-	2	609	c.597G>A	c.(595-597)tcG>tcA	p.S199S	RAB11FIP1_ENST00000524118.1_Silent_p.S51S|RAB11FIP1_ENST00000522727.1_Silent_p.S51S|RAB11FIP1_ENST00000287263.4_Silent_p.S199S	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	199					protein transport	centrosome|phagocytic vesicle membrane|recycling endosome	protein binding			NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			CACTGTCGACCGAAGGTGTCG	0.468													T	37734844	C	T	37734844	2	4	711	1	0	0	0	0	0	0	0	1	12981	639	23	1		1	RAB11FIP1	8	37734844	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	941790	37734844	108629178	51	54605											
PRKDC	5591	broad.mit.edu	37	chr8	48790318	48790318	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctgaaactggattgaaatAattcttccatgacatgctgc	12	13	7	9	0	1	3	0	3	1	0	3	4	3	4	2	1	3	1	2	1	3	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:48790318A>T	ENST00000314191.2	-	41	5383	c.5327T>A	c.(5326-5328)tTa>tAa	p.L1776*	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Nonsense_Mutation_p.L1776*	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1777					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				GGATTGAAATAATTCTTCCAT	0.413								Non-homologous end-joining					T	48790318	A	T	48790318	4	4	711	1	0	0	0	0	0	1	0	0	12607	372	13	5	7244	5	PRKDC	8	48790318	Nonsense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	11055474	48790318	97573704	52	54606											
CYP7A1	1581	broad.mit.edu	37	chr8	59404091	59404091	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaatggcggcaaaatgccCaagcctgcccgggactggtc	9	7	12	13	2	1	0	1	0	0	0	2	1	1	1	3	4	3	1	3	4	4	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:59404091C>A	ENST00000301645.3	-	6	1595	c.1458G>T	c.(1456-1458)ttG>ttT	p.L486F		NM_000780.3	NP_000771.2	P22680	CP7A1_HUMAN	cytochrome P450, family 7, subfamily A, polypeptide 1	486					bile acid biosynthetic process|cellular lipid metabolic process|cellular response to cholesterol|cellular response to glucose stimulus|cholesterol catabolic process|cholesterol homeostasis|regulation of bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	cholesterol 7-alpha-monooxygenase activity|electron carrier activity|heme binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(1)|urinary_tract(1)	34		all_lung(136;0.0271)|Lung NSC(129;0.0351)|all_epithelial(80;0.0554)				GCAAAATGCCCAAGCCTGCCC	0.383									Neonatal Giant Cell Hepatitis				A	59404091	C	A	59404091	3	1	711	1	0	0	0	0	1	0	0	0	4229	593	21	4	60	4	CYP7A1	8	59404091	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	10613773	59404091	86959931	53	54607											
C8orf34	116328	broad.mit.edu	37	chr8	69688649	69688649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctagggagaagcctccagtGgagtaggacactcactgaaa	13	7	12	9	0	2	2	1	1	1	1	3	5	3	4	2	3	1	1	2	3	4	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:69688649G>A	ENST00000337103.4	+	10	2679	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	C8orf34_ENST00000518698.1_Missense_Mutation_p.G474R|C8orf34_ENST00000539993.1_Missense_Mutation_p.G388R|C8orf34_ENST00000325233.3_Missense_Mutation_p.G132R			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	388					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			AGCCTCCAGTGGAGTAGGACA	0.408													A	69688649	G	A	69688649	3	1	711	1	0	0	0	0	1	0	0	0	2447	1349	47	2	1125	2	C8orf34	8	69688649	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	10284558	69688649	76675373	54	54608											
EYA1	2138	broad.mit.edu	37	chr8	72127688	72127688	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacccatacagcaggacttTcgccaatgctgggatgagct	11	9	10	11	1	0	1	0	1	0	0	1	3	0	3	2	2	5	3	2	2	3	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:72127688T>C	ENST00000340726.3	-	16	2170	c.1531A>G	c.(1531-1533)Aaa>Gaa	p.K511E	EYA1_ENST00000388741.2_Missense_Mutation_p.K477E|EYA1_ENST00000303824.7_Missense_Mutation_p.K505E|EYA1_ENST00000388740.3_Missense_Mutation_p.K478E|EYA1_ENST00000419131.1_Missense_Mutation_p.K476E|EYA1_ENST00000388743.2_Missense_Mutation_p.K510E|EYA1_ENST00000388742.4_Missense_Mutation_p.K511E	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	511					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity	p.K511*(1)		NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			AGCAGGACTTTCGCCAATGCT	0.338													C	72127688	T	C	72127688	3	2	711	1	0	0	0	0	1	0	0	0	5370	1792	62	3	259	3	EYA1	8	72127688	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	2439039	72127688	74236334	55	54609											
TMEM70	54968	broad.mit.edu	37	chr8	74893730	74893733	+	Frame_Shift_Del	DEL	GTTA	GTTA	-																															tatgctaaaacaaaatcactGttagttaatccagtgctctt																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:74893730_74893733delGTTA	ENST00000312184.5	+	3	730_733	c.657_660delGTTA	c.(655-660)ctgttafs	p.LL219fs		NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	219					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			CAAAATCACTGTTAGTTAATCCAG	0.348													-	74893733	GTTA	-	74893730	7	5	711	1	0	1	0	1	0	0	0	0	16299	1364	48	0	675	0	TMEM70	8	74893730	Frame_Shift_Del	DEL	GTTA	TCGA-S9-A6WH-01A-12D-A33T-08	2766042	74893730	71470292	56	54610											
RAD54B	25788	broad.mit.edu	37	chr8	95412677	95412677	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcagcaagaatagctccaCatctgccattcattctgtta	12	12	5	12	0	4	1	2	0	2	1	5	1	5	1	2	0	3	3	2	0	4	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr8:95412677C>T	ENST00000336148.5	-	7	1083	c.959G>A	c.(958-960)tGt>tAt	p.C320Y		NM_012415.3	NP_036547.1	O95073	FSBP_HUMAN	RAD54 homolog B (S. cerevisiae)	0					double-strand break repair via homologous recombination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA translocase activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(10)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(36;4.5e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00217)			AATAGCTCCACATCTGCCATT	0.373								Direct reversal of damage;Homologous recombination					T	95412677	C	T	95412677	3	4	711	1	0	0	0	0	1	0	0	0	13080	478	17	2	1809	2	RAD54B	8	95412677	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	20518947	95412677	50951345	57	54611											
CYLC2	1539	broad.mit.edu	37	chr9	105767734	105767734	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaaaggtaagaaagataAgaagaagcccagtagtacag	22	5	10	4	0	0	4	0	0	0	4	0	4	0	4	1	1	2	3	1	1	10	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr9:105767734A>T	ENST00000374798.3	+	5	891	c.821A>T	c.(820-822)aAg>aTg	p.K274M	CYLC2_ENST00000487798.1_Missense_Mutation_p.K274M	NM_001340.3	NP_001331.1	Q14093	CYLC2_HUMAN	cylicin, basic protein of sperm head cytoskeleton 2	274	31 X 3 AA repeats of K-K-X.				cell differentiation|multicellular organismal development|spermatogenesis	cytoskeletal calyx	structural constituent of cytoskeleton			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(1)|skin(5)|stomach(5)|upper_aerodigestive_tract(2)	41		all_hematologic(171;0.125)				AAGAAAGATAAGAAGAAGCCC	0.393													T	105767734	A	T	105767734	3	4	711	1	0	0	0	0	1	0	0	0	4175	72	3	5	839	5	CYLC2	9	105767734	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		105767734	35445697	58	54612											
ASB13	79754	broad.mit.edu	37	chr10	5693260	5693260	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagcaagagcttcacacActcgatgctgcccgaggcgc	10	5	12	14	3	1	1	1	0	0	1	2	4	1	2	1	2	4	3	1	2	1	1	rs139712171		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:5693260A>C	ENST00000357700.6	-	3	324	c.298T>G	c.(298-300)Tgt>Ggt	p.C100G	ASB13_ENST00000479033.1_Intron	NM_024701.3	NP_078977.2	Q8WXK3	ASB13_HUMAN	ankyrin repeat and SOCS box containing 13	100					intracellular signal transduction		protein binding			NS(1)|endometrium(3)|lung(3)|ovary(1)	8				GBM - Glioblastoma multiforme(2;9.59e-09)		AGCTTCACACACTCGATGCTG	0.632													C	5693260	A	C	5693260	3	2	711	1	0	0	0	0	1	0	0	0	1022	159	6	5	554	5	ASB13	10	5693260	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		5693260	129841487	59	54613											
ANK3	288	broad.mit.edu	37	chr10	61835771	61835771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgtagtcactggagaggttCgagaggaaaacgtagaattg	13	9	14	5	2	1	3	1	0	0	3	2	6	1	4	0	3	1	3	0	3	5	4	rs143606308		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:61835771C>T	ENST00000280772.2	-	37	5059	c.4868G>A	c.(4867-4869)cGa>cAa	p.R1623Q	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)		Ser-rich.				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TGGAGAGGTTCGAGAGGAAAA	0.478													T	61835771	C	T	61835771	3	4	711	1	0	0	0	0	1	0	0	0	622	884	31	1	8606	1	ANK3	10	61835771	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	56142511	61835771	73698976	60	54614											
PSAP	5660	broad.mit.edu	37	chr10	73580004	73580006	+	In_Frame_Del	DEL	TTG	TTG	-																															gaggacagcatacctcagtcTtgttgttgtcaatcagcttg																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:73580004_73580006delTTG	ENST00000394936.3	-	9	1143_1145	c.996_998delCAA	c.(994-999)aacaag>aag	p.N332del	PSAP_ENST00000394934.1_In_Frame_Del_p.N334del			P07602	SAP_HUMAN	prosaposin	332	Saposin B-type 3.				glycosphingolipid metabolic process|lipid transport|platelet activation|platelet degranulation	extracellular space|Golgi apparatus|integral to membrane|lysosomal lumen	enzyme activator activity|lipid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	13						TACCTCAGTCTTGTTGTTGTCAA	0.557													-	73580006	TTG	-	73580004	7	5	711	1	0	1	0	1	0	0	0	0	12728	1609	56	0	600	0	PSAP	10	73580004	In_Frame_Del	DEL	TTG	TCGA-S9-A6WH-01A-12D-A33T-08	11744233	73580004	61954743	61	54615											
CYP2C9	1559	broad.mit.edu	37	chr10	96740964	96740964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccaggaagagattgaacGtgtgattggcagaaaccgga	14	7	14	6	2	0	4	0	2	0	2	1	7	1	6	2	3	2	1	2	3	3	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:96740964G>A	ENST00000260682.6	+	7	998	c.986G>A	c.(985-987)cGt>cAt	p.R329H		NM_000771.3	NP_000762.2	P11712	CP2C9_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 9	329					exogenous drug catabolic process|monocarboxylic acid metabolic process|monoterpenoid metabolic process|oxidative demethylation|steroid metabolic process|urea metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	(S)-limonene 6-monooxygenase activity|(S)-limonene 7-monooxygenase activity|4-hydroxyacetophenone monooxygenase activity|caffeine oxidase activity|drug binding|electron carrier activity|heme binding|oxygen binding|steroid hydroxylase activity			breast(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		Colorectal(252;0.0902)		all cancers(201;6.93e-05)	Acenocoumarol(DB01418)|Alosetron(DB00969)|Amiodarone(DB01118)|Antihemophilic Factor(DB00025)|Aprepitant(DB00673)|Bosentan(DB00559)|Carprofen(DB00821)|Carvedilol(DB01136)|Celecoxib(DB00482)|Clomipramine(DB01242)|Dapsone(DB00250)|Delavirdine(DB00705)|Desloratadine(DB00967)|Desogestrel(DB00304)|Diclofenac(DB00586)|Esomeprazole(DB00736)|Etodolac(DB00749)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Gemfibrozil(DB01241)|Ginkgo biloba(DB01381)|Glibenclamide(DB01016)|Glimepiride(DB00222)|Glipizide(DB01067)|Guanfacine(DB01018)|Hydromorphone(DB00327)|Ibuprofen(DB01050)|Imipramine(DB00458)|Irbesartan(DB01029)|Ketoconazole(DB01026)|Lansoprazole(DB00448)|Losartan(DB00678)|Lumiracoxib(DB01283)|Marinol(DB00470)|Mefenamic acid(DB00784)|Meloxicam(DB00814)|Mephenytoin(DB00532)|Metronidazole(DB00916)|Miconazole(DB01110)|Midazolam(DB00683)|Montelukast(DB00471)|Nateglinide(DB00731)|Nelfinavir(DB00220)|Nicardipine(DB00622)|Oxymorphone(DB01192)|Pantoprazole(DB00213)|Paramethadione(DB00617)|Phenprocoumon(DB00946)|Phenytoin(DB00252)|Pravastatin(DB00175)|Quinidine(DB00908)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Sertraline(DB01104)|Sildenafil(DB00203)|Sulfamethoxazole(DB01015)|Suprofen(DB00870)|Tamoxifen(DB00675)|Tenoxicam(DB00469)|Terfenadine(DB00342)|Tolbutamide(DB01124)|Torasemide(DB00214)|Troleandomycin(DB01361)|Valdecoxib(DB00580)|Valsartan(DB00177)|Voriconazole(DB00582)|Warfarin(DB00682)|Zafirlukast(DB00549)|Zileuton(DB00744)	GAGATTGAACGTGTGATTGGC	0.463													A	96740964	G	A	96740964	3	1	711	1	0	0	0	0	1	0	0	0	4201	1145	40	1	1012	1	CYP2C9	10	96740964	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	23160960	96740964	38793783	62	54616											
ARMS2	387715	broad.mit.edu	37	chr10	124214434	124214435	+	In_Frame_Ins	INS	-	-	CAT																															aaactgtctttatcacactcINScatgatcccagctgctaaaa																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr10:124214434_124214435insCAT	ENST00000528446.1	+	1	266_267	c.191_192insCAT	c.(190-195)tccatg>tcCATcatg	p.64_65SM>SIM		NM_001099667.1	NP_001093137.1	P0C7Q2	ARMS2_HUMAN	age-related maculopathy susceptibility 2	64					retina homeostasis	mitochondrion|photoreceptor inner segment				ovary(1)	1		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				TTATCACACTCCATGATCCCAG	0.54													CAT	124214435	-	CAT	124214434	7	5	711	1	0	1	1	0	0	0	0	0	969	855	30	0	193	0	ARMS2	10	124214434	In_Frame_Ins	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08	27473470	124214434	11320313	63	54617											
KRTAP5-6	440023	broad.mit.edu	37	chr11	1718511	1718511	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctggaggctgtggctcCggctgtgggggctgtggctc	1	11	19	10	1	1	0	0	0	1	0	3	1	2	1	1	7	1	6	1	7	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:1718511C>T	ENST00000382160.1	+	1	87	c.36C>T	c.(34-36)tcC>tcT	p.S12S		NM_001012416.1	NP_001012416.1	Q6L8G9	KRA56_HUMAN	keratin associated protein 5-6	12						keratin filament				endometrium(1)|large_intestine(2)|lung(6)|skin(1)	10		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;0.00136)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCTGTGGCTCCGGCTGTGGGG	0.642													T	1718511	C	T	1718511	2	4	711	1	0	0	0	0	0	0	0	1	8624	639	23	1		1	KRTAP5-6	11	1718511	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08		1718511	133288005	64	54618											
OR52I1	390037	broad.mit.edu	37	chr11	4615307	4615307	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccacacaatggaaaccccTgcctccttcctccttgtggg	9	9	7	16	0	0	0	0	0	0	0	3	1	3	1	7	2	3	0	7	2	3	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4615307T>C	ENST00000450052.2	+	2	111	c.111T>C	c.(109-111)ccT>ccC	p.P37P	OR52I1_ENST00000530443.2_Silent_p.P13P			Q8NGK6	O52I1_HUMAN	olfactory receptor, family 52, subfamily I, member 1	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)	15		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;7.98e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0284)|LUSC - Lung squamous cell carcinoma(625;0.19)		TGGAAACCCCTGCCTCCTTCC	0.473													C	4615307	T	C	4615307	2	2	711	1	0	0	0	0	0	0	0	1	11196	1567	55	3		3	OR52I1	11	4615307	Silent	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	2896796	4615307	130391209	65	54619											
OR51T1	401665	broad.mit.edu	37	chr11	4904034	4904034	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaagaccaagacaatccGccaggctatgttccagctgc	11	8	9	13	1	0	3	0	1	0	2	2	3	2	3	4	1	2	3	4	1	4	3	rs151076376	byFrequency	TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:4904034G>A	ENST00000380378.1	+	1	986	c.986G>A	c.(985-987)cGc>cAc	p.R329H	MMP26_ENST00000477339.1_Intron|OR51T1_ENST00000322049.1_Missense_Mutation_p.R302H|MMP26_ENST00000380390.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	302					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R302L(1)|p.R329L(1)		NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		AAGACAATCCGCCAGGCTATG	0.483													A	4904034	G	A	4904034	3	1	711	1	0	0	0	0	1	0	0	0	11182	1087	38	1	988	1	OR51T1	11	4904034	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	288727	4904034	130102482	66	54620											
DYNC2H1	79659	broad.mit.edu	37	chr11	103052532	103052532	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgataaaatcttggttgaggAatcagcctgctgaatataga	14	12	10	5	0	2	4	1	3	1	1	2	5	2	5	1	2	2	2	1	2	6	5			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:103052532A>T	ENST00000375735.2	+	40	6538	c.6394A>T	c.(6394-6396)Aat>Tat	p.N2132Y	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.N2132Y|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	2132	AAA 2 (By similarity).				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TTGGTTGAGGAATCAGCCTGC	0.289													T	103052532	A	T	103052532	3	4	711	1	0	0	0	0	1	0	0	0	4885	246	9	5	6552	5	DYNC2H1	11	103052532	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	98148498	103052532	31953984	67	54621											
EXPH5	23086	broad.mit.edu	37	chr11	108384958	108384958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggagcatttaaactaacacGttggtaaacattctgtgaat	14	12	9	6	1	1	1	0	1	1	0	1	2	1	2	0	2	4	3	0	2	6	6			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:108384958G>A	ENST00000265843.4	-	6	1386	c.1276C>T	c.(1276-1278)Cgt>Tgt	p.R426C	EXPH5_ENST00000443411.1_Missense_Mutation_p.R238C|EXPH5_ENST00000524840.1_5'UTR|EXPH5_ENST00000428840.1_Missense_Mutation_p.R350C|EXPH5_ENST00000525344.1_Missense_Mutation_p.R419C	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	426					intracellular protein transport		Rab GTPase binding	p.R426C(1)		breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		AAACTAACACGTTGGTAAACA	0.413													A	108384958	G	A	108384958	3	1	711	1	0	0	0	0	1	0	0	0	5364	1145	40	1	4697	1	EXPH5	11	108384958	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	5332426	108384958	26621558	68	54622											
SORL1	6653	broad.mit.edu	37	chr11	121414352	121414352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacagaacctggggagaagaGcactgtcttcaccatctttg	11	9	10	11	0	3	3	1	0	2	3	3	4	3	3	2	2	2	1	2	2	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr11:121414352G>A	ENST00000260197.7	+	13	1910	c.1781G>A	c.(1780-1782)aGc>aAc	p.S594N	SORL1_ENST00000532451.1_3'UTR	NM_003105.5	NP_003096	Q92673	SORL_HUMAN	sortilin-related receptor, L(DLR class) A repeats containing	594					cholesterol metabolic process|lipid transport|receptor-mediated endocytosis	integral to plasma membrane|low-density lipoprotein particle	low-density lipoprotein particle binding|transmembrane receptor activity			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|liver(2)|lung(34)|ovary(5)|pancreas(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(2)	91		Breast(109;0.00119)|Medulloblastoma(222;0.0429)|all_neural(223;0.113)		BRCA - Breast invasive adenocarcinoma(274;3.34e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.108)		GGGGAGAAGAGCACTGTCTTC	0.517													A	121414352	G	A	121414352	3	1	711	1	0	0	0	0	1	0	0	0	15028	971	34	2	1831	2	SORL1	11	121414352	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	13029394	121414352	13592164	69	54623											
SLC6A13	6540	broad.mit.edu	37	chr12	330125	330125	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgccccctagcagtgagActctagctctgtgagtctga	7	10	11	13	0	3	3	0	3	3	1	3	4	3	3	3	0	3	2	3	0	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:330125A>T	ENST00000343164.4	-	15	1850	c.1798T>A	c.(1798-1800)Tct>Act	p.S600T	SLC6A13_ENST00000445055.2_Missense_Mutation_p.S508T	NM_016615.4	NP_057699.2	Q9NSD5	S6A13_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 13	600					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(11)|prostate(1)|urinary_tract(1)	28	all_cancers(10;0.0416)|all_epithelial(11;0.0537)|all_lung(10;0.0989)|Lung NSC(10;0.139)|Ovarian(42;0.142)		OV - Ovarian serous cystadenocarcinoma(31;0.00153)|BRCA - Breast invasive adenocarcinoma(9;0.239)			TAGCAGTGAGACTCTAGCTCT	0.662													T	330125	A	T	330125	3	4	711	1	0	0	0	0	1	0	0	0	14770	275	10	5	14	5	SLC6A13	12	330125	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		330125	133521770	70	54624											
VDR	7421	broad.mit.edu	37	chr12	48272841	48272841	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccacagatccggggcacgTtccggtcaaagtctccaggg	8	6	12	15	3	2	1	1	0	1	1	5	1	4	1	5	4	0	2	5	4	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:48272841T>C	ENST00000229022.3	-	4	337	c.56A>G	c.(55-57)aAc>aGc	p.N19S	VDR_ENST00000535672.1_5'UTR|VDR_ENST00000549336.1_Missense_Mutation_p.N19S|VDR_ENST00000550325.1_Missense_Mutation_p.N69S|VDR_ENST00000395324.2_Missense_Mutation_p.N19S	NM_001017535.1	NP_001017535.1	P11473	VDR_HUMAN	vitamin D (1,25- dihydroxyvitamin D3) receptor	19					decidualization|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of vitamin D 24-hydroxylase activity|regulation of calcidiol 1-monooxygenase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	retinoid X receptor binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|vitamin D3 receptor activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(3)|skin(2)	22		Acute lymphoblastic leukemia(13;0.109)|all_hematologic(14;0.214)		GBM - Glioblastoma multiforme(48;0.17)	Calcidiol(DB00146)|Calcipotriol(DB02300)|Calcitriol(DB00136)|Dihydrotachysterol(DB01070)|Ergocalciferol(DB00153)|Paricalcitol(DB00910)	CCGGGGCACGTTCCGGTCAAA	0.587													C	48272841	T	C	48272841	3	2	711	1	0	0	0	0	1	0	0	0	17251	1725	60	3	1259	3	VDR	12	48272841	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	47942716	48272841	85579054	71	54625											
SLC17A8	246213	broad.mit.edu	37	chr12	100813689	100813689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttgcttctggggagaaacagGagtgggctgacccagagaat	11	8	15	7	0	1	3	0	1	1	2	1	6	1	4	1	4	2	2	1	4	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr12:100813689G>A	ENST00000323346.5	+	12	1835	c.1522G>A	c.(1522-1524)Gag>Aag	p.E508K	SLC17A8_ENST00000552697.1_3'UTR|SLC17A8_ENST00000392989.3_Missense_Mutation_p.E458K	NM_001145288.1|NM_139319.2	NP_001138760.1|NP_647480.1	Q8NDX2	VGLU3_HUMAN	solute carrier family 17 (vesicular glutamate transporter), member 8	508					neurotransmitter transport|sensory perception of sound|sodium ion transport	cell junction|integral to membrane|synaptic vesicle membrane|synaptosome	L-glutamate transmembrane transporter activity|symporter activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(25)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	44						GGAGAAACAGGAGTGGGCTGA	0.483													A	100813689	G	A	100813689	3	1	711	1	0	0	0	0	1	0	0	0	14517	1175	41	2	1568	2	SLC17A8	12	100813689	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	52540848	100813689	33038206	72	54626											
SERP2	387923	broad.mit.edu	37	chr13	44953804	44953804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aagaggagaaatatcctgtgGgaccatggctgttggcactg	11	9	14	7	0	0	2	0	0	0	2	1	4	1	3	2	4	0	3	2	4	3	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:44953804G>A	ENST00000379179.3	+	2	296	c.112G>A	c.(112-114)Gga>Aga	p.G38R		NM_001010897.1	NP_001010897.1	Q8N6R1	SERP2_HUMAN	stress-associated endoplasmic reticulum protein family member 2	38					protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane				large_intestine(1)	1		all_hematologic(4;1.49e-06)|Acute lymphoblastic leukemia(4;1.5e-06)|Lung NSC(96;0.00043)|Breast(139;0.0044)|Prostate(109;0.0137)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)		GBM - Glioblastoma multiforme(144;0.00026)|BRCA - Breast invasive adenocarcinoma(63;0.123)		ATATCCTGTGGGACCATGGCT	0.413													A	44953804	G	A	44953804	3	1	711	1	0	0	0	0	1	0	0	0	14178	1233	43	2	118	2	SERP2	13	44953804	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		44953804	70216074	73	54627											
THSD1	55901	broad.mit.edu	37	chr13	52972267	52972267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggaaatccacatacactgTgtcgttgcttagtgctacat	10	13	8	10	1	0	0	0	0	0	0	2	1	1	1	1	1	4	3	1	1	4	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr13:52972267T>C	ENST00000349258.4	-	3	665	c.121A>G	c.(121-123)Aca>Gca	p.T41A	THSD1_ENST00000258613.4_Missense_Mutation_p.T41A|THSD1_ENST00000544466.1_Intron	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	41						extracellular region|integral to membrane|intracellular membrane-bounded organelle				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		ACATACACTGTGTCGTTGCTT	0.438													C	52972267	T	C	52972267	3	2	711	1	0	0	0	0	1	0	0	0	15977	1696	59	3	2449	3	THSD1	13	52972267	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	8018463	52972267	62197611	74	54628											
CRIP2	1397	broad.mit.edu	37	chr14	105945493	105945493	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgtctctgggcaaggattgGcaccggccctgcctgcgctg	5	8	14	14	3	1	0	0	0	1	0	2	1	1	1	3	4	2	3	3	4	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr14:105945493G>A	ENST00000329146.4	+	6	1151	c.438G>A	c.(436-438)tgG>tgA	p.W146*	CRIP2_ENST00000548989.1_3'UTR|CRIP2_ENST00000483017.3_Nonsense_Mutation_p.W220*	NM_001312.3	NP_001303.1	P52943	CRIP2_HUMAN	cysteine-rich protein 2	146	LIM zinc-binding 2.						zinc ion binding			lung(2)	2		Melanoma(154;0.226)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.235)		GCAAGGATTGGCACCGGCCCT	0.766													A	105945493	G	A	105945493	4	1	711	1	0	0	0	0	0	1	0	0	3906	1212	42	2	460	2	CRIP2	14	105945493	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		105945493	1404047	75	54629											
SPTBN5	51332	broad.mit.edu	37	chr15	42180130	42180130	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagggtggggtcacacctgtGggcatggatgagggcattga	9	8	18	6	0	1	2	1	2	0	0	1	3	1	3	1	6	0	2	1	6	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42180130G>C	ENST00000320955.6	-	5	882	c.655C>G	c.(655-657)Cac>Gac	p.H219D		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	219	Actin-binding.|CH 2.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		TCACACCTGTGGGCATGGATG	0.602													C	42180130	G	C	42180130	3	2	711	1	0	0	0	0	1	0	0	0	15218	1348	47	4	10625	4	SPTBN5	15	42180130	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		42180130	60351262	76	54630											
PLA2G4F	255189	broad.mit.edu	37	chr15	42438416	42438416	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tggcggaccgcctcctgttgGtcagacagcttggcagggtt	5	10	15	11	2	1	1	1	0	0	1	2	2	2	2	3	5	1	4	3	5	0	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:42438416G>A	ENST00000397272.3	-	14	1540	c.1449C>T	c.(1447-1449)gaC>gaT	p.D483D	PLA2G4F_ENST00000382396.4_Silent_p.D481D	NM_213600.3	NP_998765.3	Q68DD2	PA24F_HUMAN	phospholipase A2, group IVF	481	PLA2c.				phospholipid catabolic process	cytosol|lysosomal membrane	metal ion binding|phospholipase A2 activity			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32		all_cancers(109;4.82e-12)|all_epithelial(112;5.64e-11)|Lung NSC(122;2.17e-07)|all_lung(180;8.79e-07)|Melanoma(134;0.091)		GBM - Glioblastoma multiforme(94;8.97e-07)		CCTCCTGTTGGTCAGACAGCT	0.612													A	42438416	G	A	42438416	2	1	711	1	0	0	0	0	0	0	0	1	12083	1252	44	2		2	PLA2G4F	15	42438416	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	258286	42438416	60092976	77	54631											
MAP1A	4130	broad.mit.edu	37	chr15	43822061	43822061	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caaggcccagtggggggagaAtcttcaggtgagtagcaaag	12	6	16	7	0	2	2	1	1	1	1	2	3	2	2	1	5	1	2	1	5	4	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:43822061A>G	ENST00000382031.1	+	6	8994	c.8963A>G	c.(8962-8964)aAt>aGt	p.N2988S	MAP1A_ENST00000300231.5_Missense_Mutation_p.N2750S|MAP1A_ENST00000399453.1_Missense_Mutation_p.N2750S			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	2750						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TGGGGGGAGAATCTTCAGGTG	0.557													G	43822061	A	G	43822061	3	3	711	1	0	0	0	0	1	0	0	0	9302	101	4	3	8255	3	MAP1A	15	43822061	Missense_Mutation	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	1383645	43822061	58709331	78	54632											
CEP152	22995	broad.mit.edu	37	chr15	49097830	49097830	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcactggtagtgccacactgCcaaagtctaatgacatggtc	11	9	10	11	0	1	1	0	1	1	0	2	1	1	1	2	2	2	2	2	2	3	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:49097830C>T	ENST00000380950.2	-	2	204	c.17G>A	c.(16-18)gGc>gAc	p.G6D	CEP152_ENST00000325747.5_Missense_Mutation_p.G6D|CEP152_ENST00000399334.3_Missense_Mutation_p.G6D	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	6					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TGCCACACTGCCAAAGTCTAA	0.398													T	49097830	C	T	49097830	3	4	711	1	0	0	0	0	1	0	0	0	3278	739	26	2	5047	2	CEP152	15	49097830	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	5275769	49097830	53433562	79	54633											
RFX7	64864	broad.mit.edu	37	chr15	56387780	56387780	+	Frame_Shift_Del	DEL	T	T	-																															gacatttactgataccttgcTaggaatctgagcacctgctg																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:56387780delT	ENST00000423270.1	-	9	2145	c.2146delA	c.(2146-2148)agcfs	p.S716fs	RFX7_ENST00000422057.1_Frame_Shift_Del_p.S619fs|RFX7_ENST00000559447.2_Frame_Shift_Del_p.S619fs|RFX7_ENST00000317318.6_Frame_Shift_Del_p.S716fs	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	619					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						GATACCTTGCTAGGAATCTGA	0.438													-	56387780	T	-	56387780	7	5	711	1	0	1	0	1	0	0	0	0	13356	1522	53	0	2240	0	RFX7	15	56387780	Frame_Shift_Del	DEL	T	TCGA-S9-A6WH-01A-12D-A33T-08	7289950	56387780	46143612	80	54634											
TCF12	6938	broad.mit.edu	37	chr15	57523426	57523427	+	Frame_Shift_Ins	INS	-	-	T																															tctcctaagccaccaaccagINStatgttcgctagcactttct																										TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr15:57523426_57523427insT	ENST00000267811.5	+	9	960_961	c.656_657insT	c.(655-660)agtatgfs	p.M220fs	TCF12_ENST00000333725.5_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.M220fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.M50fs|TCF12_ENST00000537840.1_Frame_Shift_Ins_p.V30fs|TCF12_ENST00000560764.1_3'UTR|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.M216fs|TCF12_ENST00000438423.2_Frame_Shift_Ins_p.M220fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	220					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		CCACCAACCAGTATGTTCGCTA	0.366			T	TEC	extraskeletal myxoid chondrosarcoma								T	57523427	-	T	57523426	7	5	711	1	0	1	1	0	0	0	0	0	15787	1029	36	0	759	0	TCF12	15	57523426	Frame_Shift_Ins	INS	-	TCGA-S9-A6WH-01A-12D-A33T-08	1135646	57523426	45007966	81	54635											
BAIAP3	8938	broad.mit.edu	37	chr16	1395342	1395342	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgagggaccaggccaagtGgaggcttcagggagccgtgg	8	5	19	9	1	1	1	1	1	0	0	1	4	1	4	3	6	1	2	3	6	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:1395342G>A	ENST00000324385.5	+	22	2296	c.2138G>A	c.(2137-2139)tGg>tAg	p.W713*	BAIAP3_ENST00000562208.1_Nonsense_Mutation_p.W655*|BAIAP3_ENST00000397488.2_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000426824.3_Nonsense_Mutation_p.W678*|BAIAP3_ENST00000421665.2_Nonsense_Mutation_p.W642*|BAIAP3_ENST00000397489.1_Nonsense_Mutation_p.W695*|BAIAP3_ENST00000568887.1_Nonsense_Mutation_p.W650*	NM_003933.4	NP_003924.2	O94812	BAIP3_HUMAN	BAI1-associated protein 3	713	MHD1.				G-protein coupled receptor protein signaling pathway|neurotransmitter secretion		protein C-terminus binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(25)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42		Hepatocellular(780;0.0893)				CAGGCCAAGTGGAGGCTTCAG	0.682													A	1395342	G	A	1395342	4	1	711	1	0	0	0	0	0	1	0	0	1309	1357	47	2	2224	2	BAIAP3	16	1395342	Nonsense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		1395342	88959411	82	54636											
SCNN1B	6338	broad.mit.edu	37	chr16	23392080	23392080	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactccctgcgtctgcagccGctggacgtcatcgagtctga	6	9	12	14	4	3	1	1	1	2	0	5	4	4	2	2	1	3	2	2	1	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:23392080G>A	ENST00000343070.2	+	13	2057	c.1881G>A	c.(1879-1881)ccG>ccA	p.P627P	SCNN1B_ENST00000307331.5_Silent_p.P672P|SCNN1B_ENST00000568085.1_Silent_p.P591P|SCNN1B_ENST00000568923.1_Silent_p.P600P	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	627					excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	GTCTGCAGCCGCTGGACGTCA	0.677													A	23392080	G	A	23392080	2	1	711	1	0	0	0	0	0	0	0	1	14021	1074	38	1		1	SCNN1B	16	23392080	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	21996738	23392080	66962673	83	54637											
SULT1A2	6799	broad.mit.edu	37	chr16	28606983	28606983	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atcatgtccagaatctggctCacccaggtggtgcctggaga	9	9	12	11	0	3	2	2	0	1	2	4	3	4	2	3	4	1	1	3	4	1	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:28606983C>T	ENST00000533150.1	-	2	1278	c.162G>A	c.(160-162)gtG>gtA	p.V54V	SULT1A2_ENST00000395630.1_Silent_p.V54V|SULT1A2_ENST00000335715.4_Silent_p.V54V			P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	54					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						GAATCTGGCTCACCCAGGTGG	0.607													T	28606983	C	T	28606983	2	4	711	1	0	0	0	0	0	0	0	1	15469	813	29	2		2	SULT1A2	16	28606983	Silent	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	5214903	28606983	61747770	84	54638											
CORO1A	11151	broad.mit.edu	37	chr16	30199764	30199764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggagtggctggggggtcGggatgctgggcccctcctca	4	8	19	10	1	1	1	1	1	0	0	3	3	2	3	3	7	1	2	3	7	0	0	rs61736366		TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:30199764G>A	ENST00000219150.5	+	10	1453	c.1148G>A	c.(1147-1149)cGg>cAg	p.R383Q	CORO1A_ENST00000570045.1_Missense_Mutation_p.R383Q|CORO1A_ENST00000565497.1_Intron	NM_001193333.2|NM_007074.3	NP_001180262.1|NP_009005.1	P31146	COR1A_HUMAN	coronin, actin binding protein, 1A	383					cell-substrate adhesion|innate immune response|leukocyte chemotaxis|negative regulation of actin nucleation|phagolysosome assembly|positive chemotaxis|regulation of cell shape|uropod organization	actin filament|cortical actin cytoskeleton|lamellipodium|phagocytic cup|phagocytic vesicle membrane	actin filament binding|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein homodimerization activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	9						CTGGGGGGTCGGGATGCTGGG	0.697													A	30199764	G	A	30199764	3	1	711	1	0	0	0	0	1	0	0	0	3784	1116	39	1	1182	1	CORO1A	16	30199764	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1592781	30199764	60154989	85	54639											
RFWD3	55159	broad.mit.edu	37	chr16	74695259	74695259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggagggctggtccccctTggctgctggccatgccagca	5	7	16	13	0	0	0	0	0	0	0	1	2	1	2	4	6	3	4	4	6	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr16:74695259T>C	ENST00000361070.4	-	2	186	c.89A>G	c.(88-90)cAa>cGa	p.Q30R	RFWD3_ENST00000571750.1_Missense_Mutation_p.Q30R	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	30					DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						TGGTCCCCCTTGGCTGCTGGC	0.567													C	74695259	T	C	74695259	3	2	711	1	0	0	0	0	1	0	0	0	13349	1812	63	3	2283	3	RFWD3	16	74695259	Missense_Mutation	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	44495495	74695259	15659494	86	54640											
POLR2A	5430	broad.mit.edu	37	chr17	7406572	7406572	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gagcggatgcgggaggatcgGgaggtgctcagggtcatctt	7	8	19	7	3	3	0	2	0	1	0	4	5	3	4	0	6	3	1	0	6	0	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:7406572G>A	ENST00000322644.6	+	17	3288	c.2889G>A	c.(2887-2889)cgG>cgA	p.R963R		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	963					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				GGGAGGATCGGGAGGTGCTCA	0.602													A	7406572	G	A	7406572	2	1	711	1	0	0	0	0	0	0	0	1	12291	1219	43	2		2	POLR2A	17	7406572	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		7406572	73788638	87	54641											
MYO18A	399687	broad.mit.edu	37	chr17	27442064	27442064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctcagggttctggaagcccGgggtgtcgacaatcatcatg	8	9	14	10	2	4	0	3	0	1	0	5	2	4	1	1	4	1	2	1	4	2	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:27442064G>A	ENST00000527372.1	-	14	2552	c.2372C>T	c.(2371-2373)cCg>cTg	p.P791L	MYO18A_ENST00000531253.1_Missense_Mutation_p.P791L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P791L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P791L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	791	Myosin head-like.				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGGAAGCCCGGGGTGTCGAC	0.637													A	27442064	G	A	27442064	3	1	711	1	0	0	0	0	1	0	0	0	10141	1116	39	1	3908	1	MYO18A	17	27442064	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	20035492	27442064	53753146	88	54642											
SEC14L1	6397	broad.mit.edu	37	chr17	75205560	75205560	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaggagccccacatgaggTacgtcctccgccttcctgca	9	7	9	16	2	0	1	0	1	0	0	3	2	3	2	6	2	3	2	6	2	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr17:75205560T>C	ENST00000413679.2	+	14	1914		c.e14+2		SEC14L1_ENST00000431431.2_Splice_Site|SEC14L1_ENST00000585618.1_Splice_Site|SEC14L1_ENST00000430767.4_Splice_Site|SEC14L1_ENST00000443798.4_Splice_Site|SEC14L1_ENST00000436233.4_Splice_Site|SEC14L1_ENST00000591437.1_Splice_Site|SEC14L1_ENST00000392476.2_Splice_Site	NM_001143998.1|NM_001143999.1|NM_003003.3	NP_001137470|NP_001137471|NP_002994	Q92503	S14L1_HUMAN	SEC14-like 1 (S. cerevisiae)						transport	Golgi apparatus|integral to membrane	binding			NS(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(2)	31						CCACATGAGGTACGTCCTCCG	0.612													C	75205560	T	C	75205560	5	2	711	1	0	0	0	0	0	0	1	0	14074	1652	57	3	1659	3	SEC14L1	17	75205560	Splice_Site	SNP	T	TCGA-S9-A6WH-01A-12D-A33T-08	47763496	75205560	5989650	89	54643											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	7	6	12	16	3	2	0	1	0	1	0	4	1	3	0	4	3	3	2	4	3	1	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								A	42791758	G	A	42791758	3	1	711	1	0	0	0	0	1	0	0	0	3454	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		42791758	16337225	90	54644											
MYH14	79784	broad.mit.edu	37	chr19	50784917	50784917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcaggggaggaggcacggCgccgggcagcccgggaggcc	7	0	22	12	4	0	0	0	0	0	0	0	3	0	3	3	9	1	3	3	9	0	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr19:50784917C>T	ENST00000440075.2	+	33	4404	c.4357C>T	c.(4357-4359)Cgc>Tgc	p.R1453C	MYH14_ENST00000262269.8_Missense_Mutation_p.R1453C|MYH14_ENST00000376970.2_Missense_Mutation_p.R1445C|MYH14_ENST00000601313.1_Missense_Mutation_p.R1453C|MYH14_ENST00000596571.1_Missense_Mutation_p.R1412C|MYH14_ENST00000598205.1_Missense_Mutation_p.R1420C|MYH14_ENST00000425460.1_Missense_Mutation_p.R1420C			Q7Z406	MYH14_HUMAN	myosin, heavy chain 14, non-muscle	1412					axon guidance|regulation of cell shape	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	46		all_neural(266;0.0571)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00389)|GBM - Glioblastoma multiforme(134;0.0195)		GGAGGCACGGCGCCGGGCAGC	0.726													T	50784917	C	T	50784917	3	4	711	1	0	0	0	0	1	0	0	0	10109	768	27	1	4483	1	MYH14	19	50784917	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	7993159	50784917	8344066	91	54645											
PABPC1L	80336	broad.mit.edu	37	chr20	43561000	43561000	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccagcccaggctgcAtactatggctgtggcccagt	7	8	11	15	0	0	0	0	0	0	0	1	0	1	0	4	3	4	3	4	3	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr20:43561000A>G	ENST00000255136.3	+	9	1339	c.1257A>G	c.(1255-1257)gcA>gcG	p.A419A	PABPC1L_ENST00000372819.1_5'UTR|PABPC1L_ENST00000490798.1_Intron|PABPC1L_ENST00000372824.1_5'UTR|PABPC1L_ENST00000217073.2_Silent_p.A419A|PABPC1L_ENST00000537323.1_Intron	NM_001124756.1	NP_001118228.1	Q4VXU2	PAP1L_HUMAN	poly(A) binding protein, cytoplasmic 1-like	419	Pro-rich.						nucleotide binding|RNA binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	20						CCCAGGCTGCATACTATGGCT	0.622													G	43561000	A	G	43561000	2	3	711	1	0	0	0	0	0	0	0	1	11440	204	8	3		3	PABPC1L	20	43561000	Silent	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08		43561000	19464520	92	54646											
CCT8L2	150160	broad.mit.edu	37	chr22	17073095	17073095	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgctctgcctgttccaGcaaggcttccgtcagcagaa	8	9	10	14	1	2	1	1	0	1	1	4	1	4	1	3	1	5	6	3	1	2	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:17073095G>A	ENST00000359963.3	-	1	605	c.346C>T	c.(346-348)Ctg>Ttg	p.L116L		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	116					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCCTGTTCCAGCAAGGCTTCC	0.662													A	17073095	G	A	17073095	2	1	711	1	0	0	0	0	0	0	0	1	2991	962	34	2		2	CCT8L2	22	17073095	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		17073095	34231471	93	54647											
CYTH4	27128	broad.mit.edu	37	chr22	37708164	37708164	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaagcacgaatcgtaccGcatctcagccaccagtgccg	10	5	11	15	4	1	0	1	0	1	0	3	1	1	0	4	1	4	4	4	1	3	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chr22:37708164G>A	ENST00000248901.6	+	12	1248	c.1061G>A	c.(1060-1062)cGc>cAc	p.R354H		NM_013385.3	NP_037517.1	Q9UIA0	CYH4_HUMAN	cytohesin 4	354	PH.				regulation of ARF protein signal transduction|regulation of cell adhesion	cytoplasm|plasma membrane	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(2)|stomach(1)	15						GAATCGTACCGCATCTCAGCC	0.622													A	37708164	G	A	37708164	3	1	711	1	0	0	0	0	1	0	0	0	4239	1087	38	1	1107	1	CYTH4	22	37708164	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	20635069	37708164	13596402	94	54648											
MAGEB6	158809	broad.mit.edu	37	chrX	26212566	26212566	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaaagaagaaggcgtgcacGttggcgcaattcctgcagaa	13	7	13	8	3	0	3	0	0	0	3	1	3	1	3	1	2	2	5	1	2	6	3			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:26212566G>A	ENST00000379034.1	+	2	752	c.603G>A	c.(601-603)acG>acA	p.T201T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	201	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						AGGCGTGCACGTTGGCGCAAT	0.483													A	26212566	G	A	26212566	2	1	711	1	0	0	0	0	0	0	0	1	9254	1132	40	1		1	MAGEB6	23	26212566	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08		26212566	129057994	95	54649											
HUWE1	10075	broad.mit.edu	37	chrX	53644041	53644041	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaaagactgaagacctCgggcattcaaacagagtgca	17	5	10	9	1	1	4	1	1	0	3	2	5	1	4	1	1	3	2	1	1	5	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:53644041C>A	ENST00000342160.3	-	20	2304	c.1847G>T	c.(1846-1848)cGa>cTa	p.R616L	HUWE1_ENST00000262854.6_Missense_Mutation_p.R616L|HUWE1_ENST00000218328.8_Missense_Mutation_p.R616L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	616					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CTGAAGACCTCGGGCATTCAA	0.478													A	53644041	C	A	53644041	3	1	711	1	0	0	0	0	1	0	0	0	7519	884	31	4	11533	4	HUWE1	23	53644041	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	27431475	53644041	101626519	96	54650											
CYSLTR1	10800	broad.mit.edu	37	chrX	77528954	77528954	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaagcataggtgctgaggCggcacaagaagtcaccaaag	16	4	12	9	1	1	2	1	1	0	1	1	2	1	2	1	3	2	3	1	3	5	1			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:77528954C>T	ENST00000373304.3	-	3	582	c.290G>A	c.(289-291)cGc>cAc	p.R97H		NM_001282187.1|NM_001282188.1|NM_006639.3	NP_001269116.1|NP_001269117.1|NP_006630.1	Q9Y271	CLTR1_HUMAN	cysteinyl leukotriene receptor 1	97					elevation of cytosolic calcium ion concentration|respiratory gaseous exchange	integral to plasma membrane|membrane fraction	leukotriene receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	14					Amlexanox(DB01025)|Cinalukast(DB00587)|Montelukast(DB00471)|Nedocromil(DB00716)|Pranlukast(DB01411)|Zafirlukast(DB00549)	GGTGCTGAGGCGGCACAAGAA	0.443													T	77528954	C	T	77528954	3	4	711	1	0	0	0	0	1	0	0	0	4234	768	27	1	727	1	CYSLTR1	23	77528954	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	23884913	77528954	77741606	97	54651											
SYTL4	94121	broad.mit.edu	37	chrX	99934381	99934381	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggcttctttgatccacacCtggagctctcccccttcccc	4	13	6	18	0	2	1	0	1	2	0	5	2	4	2	6	2	1	2	6	2	0	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:99934381C>A	ENST00000455616.1	-	16	1933	c.1587G>T	c.(1585-1587)caG>caT	p.Q529H	SYTL4_ENST00000276141.6_Missense_Mutation_p.Q529H|SYTL4_ENST00000263033.5_Missense_Mutation_p.Q529H|SYTL4_ENST00000372989.1_Missense_Mutation_p.Q529H|SYTL4_ENST00000454200.2_Missense_Mutation_p.Q531H			Q96C24	SYTL4_HUMAN	synaptotagmin-like 4	529	C2 2.				exocytosis|intracellular protein transport	extrinsic to membrane|plasma membrane|synaptic vesicle|transport vesicle membrane	neurexin binding|phospholipid binding|Rab GTPase binding|transporter activity|zinc ion binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(2)	27					Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)	TGATCCACACCTGGAGCTCTC	0.512													A	99934381	C	A	99934381	3	1	711	1	0	0	0	0	1	0	0	0	15582	680	24	4	440	4	SYTL4	23	99934381	Missense_Mutation	SNP	C	TCGA-S9-A6WH-01A-12D-A33T-08	22405427	99934381	55336179	98	54652											
GPRASP2	114928	broad.mit.edu	37	chrX	101972002	101972002	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acagccaatgcgagaacgaaGtttcacgttctgaaaatgct	14	9	9	9	3	2	2	1	1	1	1	2	4	2	2	1	0	4	3	1	0	5	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:101972002G>C	ENST00000543253.1	+	5	3124	c.2205G>C	c.(2203-2205)aaG>aaC	p.K735N	GPRASP2_ENST00000332262.5_Missense_Mutation_p.K735N|GPRASP2_ENST00000535209.1_Missense_Mutation_p.K735N	NM_001004051.3|NM_001184874.2|NM_001184876.2	NP_001004051.1|NP_001171803.1|NP_001171805.1			G protein-coupled receptor associated sorting protein 2											breast(3)|endometrium(5)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	30						CGAGAACGAAGTTTCACGTTC	0.393													C	101972002	G	C	101972002	3	2	711	1	0	0	0	0	1	0	0	0	6778	1020	36	4	2207	4	GPRASP2	23	101972002	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	2037621	101972002	53298558	99	54653											
SLC25A43	203427	broad.mit.edu	37	chrX	118540573	118540573	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcagaacatactggaaccAtcgtacagggggctcctcca	12	7	10	12	1	0	1	0	0	0	1	3	2	2	2	3	3	5	3	3	3	4	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:118540573A>T	ENST00000217909.7	+	2	770	c.426A>T	c.(424-426)ccA>ccT	p.P142P	SLC25A43_ENST00000336249.7_Silent_p.P142P|SLC25A43_ENST00000488158.1_3'UTR	NM_145305.2	NP_660348.2	Q8WUT9	S2543_HUMAN	solute carrier family 25, member 43	142					transmembrane transport	integral to membrane|mitochondrial inner membrane	binding			haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	9						TACTGGAACCATCGTACAGGG	0.488													T	118540573	A	T	118540573	2	4	711	1	0	0	0	0	0	0	0	1	14602	204	8	5		5	SLC25A43	23	118540573	Silent	SNP	A	TCGA-S9-A6WH-01A-12D-A33T-08	16568571	118540573	36729987	100	54654											
PASD1	139135	broad.mit.edu	37	chrX	150770028	150770028	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacgtcactgaataatgaatGaagatgagaggggaaaagag	18	7	13	3	1	1	6	1	4	0	3	1	8	1	7	0	2	1	0	0	2	7	2			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:150770028G>A	ENST00000370357.4	+	2	248	c.3G>A	c.(1-3)atG>atA	p.M1I		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	1						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					AATAATGAATGAAGATGAGAG	0.408													A	150770028	G	A	150770028	1	1	711	1	0	0	0	0	0	0	0	0	11547	1290	45	2		2	PASD1	23	150770028	Translation_Start_Site	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	32229455	150770028	4500532	101	54655											
PNMA5	114824	broad.mit.edu	37	chrX	152159711	152159711	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcggaggctctaaaggtggGgatctaacttggggcatgac	9	10	15	7	1	2	1	0	1	2	0	3	3	2	3	0	7	1	2	0	7	3	4			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:152159711G>A	ENST00000439251.1	-	2	870	c.432C>T	c.(430-432)tcC>tcT	p.S144S	PNMA5_ENST00000535214.1_Silent_p.S144S|PNMA5_ENST00000452693.1_Silent_p.S144S|PNMA5_ENST00000361887.5_Silent_p.S144S	NM_001103150.1	NP_001096620.1	Q96PV4	PNMA5_HUMAN	paraneoplastic Ma antigen family member 5	144					apoptosis					breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	Acute lymphoblastic leukemia(192;6.56e-05)					CTAAAGGTGGGGATCTAACTT	0.537													A	152159711	G	A	152159711	2	1	711	1	0	0	0	0	0	0	0	1	12233	1219	43	2		2	PNMA5	23	152159711	Silent	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	1389683	152159711	3110849	102	54656											
SPRY3	10251	broad.mit.edu	37	chrX	155004315	155004315	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccggcgaccaggctgccGctgcaagaggcacaccaaca	10	3	11	17	3	0	1	0	0	0	1	1	2	1	1	5	3	3	4	5	3	2	0			TCGA-S9-A6WH-01A-12D-A33T-08	TCGA-S9-A6WH-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6d0f21bc-09ad-40c6-ad40-8db35c89b50f	a6aec60a-7190-429c-82d3-cecd9b189962	g.chrX:155004315G>A	ENST00000302805.2	+	2	1213	c.782G>A	c.(781-783)cGc>cAc	p.R261H		NM_005840.1	NP_005831.1	O43610	SPY3_HUMAN	sprouty homolog 3 (Drosophila)	261	Cys-rich.				multicellular organismal development|regulation of signal transduction	cytoplasm|membrane						all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)					CCAGGCTGCCGCTGCAAGAGG	0.572													A	155004315	G	A	155004315	3	1	711	1	0	0	0	0	1	0	0	0	15203	1087	38	1	784	1	SPRY3	23	155004315	Missense_Mutation	SNP	G	TCGA-S9-A6WH-01A-12D-A33T-08	2844604	155004315	266245	103	54657											
PLEKHG5	57449	broad.mit.edu	37	chr1	6530295	6530295	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggggtggccctggaatcaCcttgctgtccttcccctcct	3	12	11	15	0	1	0	1	0	0	0	4	1	4	1	6	4	1	1	6	4	1	2			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr1:6530295C>T	ENST00000377748.1	-	17	2529		c.e17+1		PLEKHG5_ENST00000340850.5_Splice_Site|PLEKHG5_ENST00000377740.3_Splice_Site|PLEKHG5_ENST00000377732.1_Splice_Site|PLEKHG5_ENST00000400915.3_Splice_Site|PLEKHG5_ENST00000377728.3_Splice_Site|PLEKHG5_ENST00000377737.2_Splice_Site|PLEKHG5_ENST00000544978.1_Splice_Site|PLEKHG5_ENST00000535355.1_Splice_Site|PLEKHG5_ENST00000377725.1_Splice_Site|PLEKHG5_ENST00000400913.1_Splice_Site|PLEKHG5_ENST00000537245.1_Splice_Site	NM_198681.3	NP_941374.2	O94827	PKHG5_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 5						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|perinuclear region of cytoplasm	Rho guanyl-nucleotide exchange factor activity|signal transducer activity			liver(1)	1	Ovarian(185;0.02)|all_lung(157;0.154)	all_cancers(23;1.7e-35)|all_epithelial(116;2.78e-22)|all_lung(118;7.57e-07)|Lung NSC(185;4.26e-06)|Colorectal(325;4.47e-05)|all_hematologic(16;0.00014)|Breast(487;0.000688)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0448)		Epithelial(90;5.51e-35)|GBM - Glioblastoma multiforme(13;3.57e-27)|Colorectal(212;6.23e-08)|COAD - Colon adenocarcinoma(227;1.33e-05)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000894)|BRCA - Breast invasive adenocarcinoma(365;0.00107)|STAD - Stomach adenocarcinoma(132;0.00159)|READ - Rectum adenocarcinoma(331;0.0419)		CCTGGAATCACCTTGCTGTCC	0.662													T	6530295	C	T	6530295	5	4	712	1	0	0	0	0	0	0	1	0	12150	521	18	2	1243	2	PLEKHG5	1	6530295	Splice_Site	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		6530295	242720326	1	54658											
AFF3	3899	broad.mit.edu	37	chr2	100170874	100170874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccgccatctggtggatgCgctgtgggatgctgacgatg	5	10	17	9	3	1	1	0	1	1	0	1	4	1	3	2	4	2	2	2	4	0	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:100170874C>T	ENST00000409236.2	-	22	3570	c.3458G>A	c.(3457-3459)cGc>cAc	p.R1153H	AFF3_ENST00000409579.1_Missense_Mutation_p.R1178H|AFF3_ENST00000317233.4_Missense_Mutation_p.R1153H|AFF3_ENST00000356421.2_Missense_Mutation_p.R1178H			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3						multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.R1178H(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CTGGTGGATGCGCTGTGGGAT	0.632													T	100170874	C	T	100170874	3	4	712	1	0	0	0	0	1	0	0	0	358	768	27	1	230	1	AFF3	2	100170874	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		100170874	143028499	2	54659											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	712	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	108942239	209113113	34086260	3	54660											
HDAC4	9759	broad.mit.edu	37	chr2	240005917	240005917	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcttggctgccacggccacGgagttgaagtagcaaaagcc	11	6	13	11	2	0	1	0	1	0	0	0	2	0	2	3	3	4	5	3	3	4	3	rs149230665		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr2:240005917G>A	ENST00000345617.3	-	20	3242	c.2451C>T	c.(2449-2451)tcC>tcT	p.S817S	HDAC4_ENST00000543185.1_Silent_p.S401S	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	817	Histone deacetylase.				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CCACGGCCACGGAGTTGAAGT	0.632													A	240005917	G	A	240005917	2	1	712	1	0	0	0	0	0	0	0	1	7064	1103	39	1		1	HDAC4	2	240005917	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	30892804	240005917	3193456	4	54661											
TRAIP	10293	broad.mit.edu	37	chr3	49869465	49869465	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atatcatcacggaaggatggCcggcggagcttcagattcac	11	8	12	10	3	4	1	4	0	0	1	4	4	4	4	1	5	1	1	1	5	2	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:49869465C>T	ENST00000331456.2	-	11	1034	c.921G>A	c.(919-921)cgG>cgA	p.R307R	TRAIP_ENST00000469027.1_Silent_p.R152R	NM_005879.2	NP_005870.2	Q9BWF2	TRAIP_HUMAN	TRAF interacting protein	307	Interaction with CYLD.				cell proliferation|induction of apoptosis	perinuclear region of cytoplasm	protein binding|zinc ion binding	p.R307R(2)		breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAAGGATGGCCGGCGGAGCT	0.547													T	49869465	C	T	49869465	2	4	712	1	0	0	0	0	0	0	0	1	16549	726	26	2		2	TRAIP	3	49869465	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		49869465	148152965	5	54662											
CEP97	79598	broad.mit.edu	37	chr3	101484296	101484296	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctttgcaaggtgaaattagCcagacacaagagaattctaa	16	9	8	8	0	1	3	0	1	1	2	1	4	1	3	2	1	2	1	2	1	6	4			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:101484296C>T	ENST00000341893.3	+	11	3251	c.2499C>T	c.(2497-2499)agC>agT	p.S833S	CEP97_ENST00000494050.1_Silent_p.S774S|CEP97_ENST00000327230.4_Silent_p.S859S			Q8IW35	CEP97_HUMAN	centrosomal protein 97kDa	833						centrosome|nucleus	protein binding			cervix(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	29						GTGAAATTAGCCAGACACAAG	0.418													T	101484296	C	T	101484296	2	4	712	1	0	0	0	0	0	0	0	1	3293	738	26	2		2	CEP97	3	101484296	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	51614831	101484296	96538134	6	54663											
MED12L	116931	broad.mit.edu	37	chr3	150834225	150834225	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aaatattgtaattaacccatCaaaggtaatgttatttgttt	15	17	5	4	0	1	0	1	0	0	0	1	0	1	0	1	1	1	4	1	1	7	8			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr3:150834225C>T	ENST00000474524.1	+	2	238	c.200C>T	c.(199-201)tCa>tTa	p.S67L	MED12L_ENST00000422248.2_Missense_Mutation_p.S67L|MED12L_ENST00000309237.4_Missense_Mutation_p.S67L|MED12L_ENST00000273432.4_Missense_Mutation_p.S67L	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	67					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			ATTAACCCATCAAAGGTAATG	0.363													T	150834225	C	T	150834225	3	4	712	1	0	0	0	0	1	0	0	0	9504	838	29	2	206	2	MED12L	3	150834225	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	49349929	150834225	47188205	7	54664											
PACRGL	133015	broad.mit.edu	37	chr4	20715062	20715062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accaaccttacaggtccattCggatgatgaagtgtttgaaa	13	11	9	8	1	0	3	0	3	0	0	2	4	1	4	3	2	2	1	3	2	4	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:20715062C>T	ENST00000360916.5	+	7	900	c.509C>T	c.(508-510)tCg>tTg	p.S170L	PACRGL_ENST00000503585.1_Missense_Mutation_p.S170L|PACRGL_ENST00000444671.2_Missense_Mutation_p.S72L|PACRGL_ENST00000507634.1_Missense_Mutation_p.S170L|PACRGL_ENST00000295290.8_Missense_Mutation_p.S170L|PACRGL_ENST00000538990.1_Missense_Mutation_p.S72L|PACRGL_ENST00000513459.1_Missense_Mutation_p.S117L|PACRGL_ENST00000502938.1_Intron|PACRGL_ENST00000502374.1_Missense_Mutation_p.S117L	NM_145048.3	NP_659485.1	Q8N7B6	PACRL_HUMAN	PARK2 co-regulated-like	170							binding			endometrium(2)|lung(7)|prostate(1)	10						CAGGTCCATTCGGATGATGAA	0.428													T	20715062	C	T	20715062	3	4	712	1	0	0	0	0	1	0	0	0	11447	893	31	1	531	1	PACRGL	4	20715062	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		20715062	170439214	8	54665											
TLR6	10333	broad.mit.edu	37	chr4	38829460	38829460	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aacacttcacttgatacttgGtctatatttttgacaaattc	12	17	4	8	0	2	2	1	2	1	0	3	2	2	2	0	1	2	0	0	1	5	9			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:38829460G>T	ENST00000436693.2	-	2	1754	c.1635C>A	c.(1633-1635)gaC>gaA	p.D545E	TLR6_ENST00000381950.1_Missense_Mutation_p.D545E	NM_006068.4	NP_006059.2	Q9Y2C9	TLR6_HUMAN	toll-like receptor 6	545	LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to diacyl bacterial lipopeptide|defense response to bacterium|detection of diacyl bacterial lipopeptide|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-6 biosynthetic process|positive regulation of JUN kinase activity|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 4 signaling pathway	integral to plasma membrane|phagocytic vesicle membrane	lipopeptide binding|transmembrane receptor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TTGATACTTGGTCTATATTTT	0.418													T	38829460	G	T	38829460	3	4	712	1	0	0	0	0	1	0	0	0	16055	1252	44	4	759	4	TLR6	4	38829460	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	18114398	38829460	152324816	9	54666											
SFRP2	6423	broad.mit.edu	37	chr4	154709562	154709562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgggggaaacggtcGcactcaagcatgtcgggcca	8	8	14	11	3	1	0	1	0	0	0	4	1	2	1	2	4	2	2	2	4	2	1	rs142242428	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr4:154709562G>A	ENST00000274063.4	-	1	710	c.426C>T	c.(424-426)tgC>tgT	p.C142C		NM_003013.2	NP_003004.1	Q96HF1	SFRP2_HUMAN	secreted frizzled-related protein 2	142	FZ.				brain development|cardiac left ventricle morphogenesis|cell-cell signaling|dermatome development|hemopoietic stem cell proliferation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell growth|negative regulation of cell migration|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|outflow tract morphogenesis|patterning of blood vessels|positive regulation of angiogenesis|positive regulation of anti-apoptosis|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell adhesion mediated by integrin|positive regulation of cell growth|positive regulation of cell proliferation|positive regulation of fat cell differentiation|positive regulation of peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter|regulation of stem cell division|sclerotome development	cytoplasm|extracellular matrix|extracellular space|plasma membrane	fibronectin binding|integrin binding|PDZ domain binding|receptor agonist activity|Wnt receptor activity|Wnt-protein binding			breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(1)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	16	all_hematologic(180;0.093)	Renal(120;0.117)				GGAAACGGTCGCACTCAAGCA	0.647													A	154709562	G	A	154709562	2	1	712	1	0	0	0	0	0	0	0	1	14255	1079	38	1		1	SFRP2	4	154709562	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	115880102	154709562	36444714	10	54667											
SDHA	6389	broad.mit.edu	37	chr5	236619	236619	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggaggccgcctgtgcctcggTacatggtgccaaccgcctcg	5	7	14	15	4	0	0	0	0	0	0	2	1	0	1	6	4	4	1	6	4	2	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr5:236619T>C	ENST00000264932.6	+	10	1452	c.1337T>C	c.(1336-1338)gTa>gCa	p.V446A	SDHA_ENST00000510361.1_Missense_Mutation_p.V398A|SDHA_ENST00000504309.1_Missense_Mutation_p.V446A	NM_004168.2	NP_004159.2	P31040	DHSA_HUMAN	succinate dehydrogenase complex, subunit A, flavoprotein (Fp)	446					nervous system development|respiratory electron transport chain|succinate metabolic process|transport|tricarboxylic acid cycle	mitochondrial respiratory chain complex II	electron carrier activity|flavin adenine dinucleotide binding|protein binding|succinate dehydrogenase (ubiquinone) activity			NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|liver(2)|lung(16)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	40			Epithelial(17;0.0159)|all cancers(22;0.0236)|OV - Ovarian serous cystadenocarcinoma(19;0.0674)|Lung(60;0.113)		Succinic acid(DB00139)	TGTGCCTCGGTACATGGTGCC	0.602									Familial Paragangliomas				C	236619	T	C	236619	3	2	712	1	0	0	0	0	1	0	0	0	14056	1638	57	3	1375	3	SDHA	5	236619	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08		236619	180678641	11	54668											
HLA-C	3107	broad.mit.edu	37	chr6	31237284	31237284	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acttacacgcagcctgagagCagctccctccttttccacct	8	10	6	17	1	0	1	0	1	0	1	3	2	3	1	5	0	4	3	5	0	1	3	rs116968219	by1000genomes	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:31237284C>T	ENST00000383329.3	-	6	1066	c.1052G>A	c.(1051-1053)tGc>tAc	p.C351Y	HLA-C_ENST00000376228.5_Missense_Mutation_p.C345Y			Q9TNN7	1C05_HUMAN	major histocompatibility complex, class I, C	345					antigen processing and presentation of peptide antigen via MHC class I|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	17						AGCCTGAGAGCAGCTCCCTCC	0.587													T	31237284	C	T	31237284	3	4	712	1	0	0	0	0	1	0	0	0	7252	710	25	2	78	2	HLA-C	6	31237284	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		31237284	139877783	12	54669											
ZNF318	24149	broad.mit.edu	37	chr6	43305558	43305558	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggattggttcgaagtcagCgggatcggaggaattacacc	10	9	15	7	3	1	0	1	0	0	0	3	5	1	4	1	5	2	1	1	5	3	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:43305558C>T	ENST00000361428.2	-	10	6255	c.6178G>A	c.(6178-6180)Gct>Act	p.A2060T	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2060					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			TCGAAGTCAGCGGGATCGGAG	0.458													T	43305558	C	T	43305558	3	4	712	1	0	0	0	0	1	0	0	0	17937	768	27	1	665	1	ZNF318	6	43305558	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	12068274	43305558	127809509	13	54670											
ARHGAP18	93663	broad.mit.edu	37	chr6	129963161	129963161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagtgtactggccatatctgCgactgtaaattcaaaagaac	14	11	8	8	1	2	1	1	0	1	1	2	2	2	1	1	1	3	2	1	1	8	5	rs143012976		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr6:129963161C>T	ENST00000368149.2	-	2	204	c.116G>A	c.(115-117)cGc>cAc	p.R39H		NM_033515.2	NP_277050.2	Q8N392	RHG18_HUMAN	Rho GTPase activating protein 18	39					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			NS(2)|endometrium(1)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(3)	18				OV - Ovarian serous cystadenocarcinoma(136;0.0621)|GBM - Glioblastoma multiforme(226;0.0638)|all cancers(137;0.074)		GCCATATCTGCGACTGTAAAT	0.383													T	129963161	C	T	129963161	3	4	712	1	0	0	0	0	1	0	0	0	871	768	27	1	1931	1	ARHGAP18	6	129963161	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	86657603	129963161	41151906	14	54671											
WNT2	7472	broad.mit.edu	37	chr7	116955280	116955280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcctttgctgtccttggCgcttcccatcttctttggat	4	17	8	12	1	2	0	0	0	2	0	4	1	4	1	3	2	2	2	3	2	1	5			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr7:116955280C>T	ENST00000265441.3	-	3	732	c.433G>A	c.(433-435)Gcc>Acc	p.A145T	AC002465.2_ENST00000436097.1_RNA	NM_003391.2	NP_003382.1	P09544	WNT2_HUMAN	wingless-type MMTV integration site family member 2	145					atrial cardiac muscle tissue morphogenesis|canonical Wnt receptor signaling pathway|cardiac epithelial to mesenchymal transition|cellular response to retinoic acid|cellular response to transforming growth factor beta stimulus|dorsal/ventral axis specification|iris morphogenesis|labyrinthine layer blood vessel development|lens development in camera-type eye|lung induction|mammary gland epithelium development|neuron differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of fibroblast proliferation|positive regulation of mesenchymal cell proliferation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|Wnt receptor signaling pathway, calcium modulating pathway	cytoplasm|extracellular space|proteinaceous extracellular matrix	cytokine activity|frizzled binding|frizzled-2 binding|signal transducer activity			breast(2)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(1)|lung(13)|ovary(3)|prostate(1)|skin(2)	31	all_epithelial(6;2.24e-06)|Lung NSC(10;0.000936)|all_lung(10;0.00109)		STAD - Stomach adenocarcinoma(10;0.000512)	LUSC - Lung squamous cell carcinoma(290;0.133)		CTGTCCTTGGCGCTTCCCATC	0.473													T	116955280	C	T	116955280	3	4	712	1	0	0	0	0	1	0	0	0	17488	768	27	1	661	1	WNT2	7	116955280	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		116955280	42183383	15	54672											
PTK2	5747	broad.mit.edu	37	chr8	141762391	141762391	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtttttacatgttttaaTtgcaaccgccaaagctggat	12	14	7	8	1	0	0	0	0	0	0	0	1	0	1	2	1	4	4	2	1	4	6			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr8:141762391T>C	ENST00000522684.1	-	17	1586	c.1357A>G	c.(1357-1359)Att>Gtt	p.I453V	PTK2_ENST00000520151.1_Missense_Mutation_p.I81V|PTK2_ENST00000395218.2_Missense_Mutation_p.I453V|PTK2_ENST00000521059.1_Missense_Mutation_p.I453V|PTK2_ENST00000519465.1_Missense_Mutation_p.I81V|PTK2_ENST00000519419.1_Missense_Mutation_p.I497V|PTK2_ENST00000340930.3_Missense_Mutation_p.I453V|PTK2_ENST00000517887.1_Missense_Mutation_p.I497V|PTK2_ENST00000535192.1_Missense_Mutation_p.I453V|PTK2_ENST00000538769.1_Missense_Mutation_p.I121V	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	453	Protein kinase.				axon guidance|blood coagulation|cellular component disassembly involved in apoptosis|ephrin receptor signaling pathway|growth hormone receptor signaling pathway|integrin-mediated signaling pathway|peptidyl-tyrosine phosphorylation|protein autophosphorylation|regulation of cell adhesion mediated by integrin|signal complex assembly	cytoskeleton|cytosol|focal adhesion	ATP binding|JUN kinase binding|non-membrane spanning protein tyrosine kinase activity|SH2 domain binding|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			CATGTTTTAATTGCAACCGCC	0.368													C	141762391	T	C	141762391	3	2	712	1	0	0	0	0	1	0	0	0	12848	1493	52	3	1865	3	PTK2	8	141762391	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08		141762391	4601631	16	54673											
PALM2	114299	broad.mit.edu	37	chr9	112686117	112686117	+	Silent	SNP	G	G	A																															gaaacagaaaaatccttcaaGgactttcagaaggtgaagaa																										TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686117G>A	ENST00000448454.2	+	5	366	c.366G>A	c.(364-366)aaG>aaA	p.K122K	PALM2-AKAP2_ENST00000302798.7_Silent_p.K120K|PALM2_ENST00000483909.1_Silent_p.K120K|AKAP2_ENST00000510514.5_Silent_p.K120K|PALM2-AKAP2_ENST00000374530.3_Silent_p.K120K|PALM2_ENST00000374531.2_Silent_p.K122K|PALM2_ENST00000314527.4_Silent_p.K120K|AKAP2_ENST00000555236.1_Silent_p.K120K					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AATCCTTCAAGGACTTTCAGA	0.418													A	112686117	G	A	112686117	2	1	712	1	0	0	0	0	0	0	0	1	11485	991	35	2		2	PALM2	9	112686117	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		112686117	28527314	17	54674	174	2									
PALM2	114299	broad.mit.edu	37	chr9	112686126	112686126	+	Missense_Mutation	SNP	G	G	C																															aaatccttcaaggactttcaGaaggtgaagaaaaccaaaac																								rs141885294		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr9:112686126G>C	ENST00000448454.2	+	5	375	c.375G>C	c.(373-375)caG>caC	p.Q125H	PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.Q123H|PALM2_ENST00000483909.1_Missense_Mutation_p.Q123H|AKAP2_ENST00000510514.5_Missense_Mutation_p.Q123H|PALM2-AKAP2_ENST00000374530.3_Missense_Mutation_p.Q123H|PALM2_ENST00000374531.2_Missense_Mutation_p.Q125H|PALM2_ENST00000314527.4_Missense_Mutation_p.Q123H|AKAP2_ENST00000555236.1_Missense_Mutation_p.Q123H					paralemmin 2											breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(1)	18						AGGACTTTCAGAAGGTGAAGA	0.413													C	112686126	G	C	112686126	3	2	712	1	0	0	0	0	1	0	0	0	11485	933	33	4	393	4	PALM2	9	112686126	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	9	112686126	28527305	18	54675	174	2									
FRMPD2	143162	broad.mit.edu	37	chr10	49440276	49440276	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacctccaggtgctgcccGttcagcaggaccacacagag	9	8	10	14	1	1	1	1	0	0	1	2	2	2	2	4	2	4	3	4	2	1	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:49440276G>A	ENST00000374201.3	-	10	1352	c.1050C>T	c.(1048-1050)aaC>aaT	p.N350N	FRMPD2_ENST00000305531.3_Silent_p.N326N|FRMPD2_ENST00000407470.4_Silent_p.N319N	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	350	FERM.				tight junction assembly	basolateral plasma membrane|cytoplasm|cytoskeleton|tight junction	1-phosphatidylinositol binding|protein binding			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		GGTGCTGCCCGTTCAGCAGGA	0.443													A	49440276	G	A	49440276	2	1	712	1	0	0	0	0	0	0	0	1	6110	1136	40	1		1	FRMPD2	10	49440276	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		49440276	86094471	19	54676											
CDHR1	92211	broad.mit.edu	37	chr10	85973974	85973974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccaccgccaccttctggcGcaacaagaagtctaacaagg	12	6	8	15	2	2	1	0	0	2	1	3	1	3	1	4	2	2	1	4	2	5	2	rs142917517		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:85973974G>A	ENST00000372117.3	+	17	2280	c.2177G>A	c.(2176-2178)cGc>cAc	p.R726H	CDHR1_ENST00000332904.3_Intron|CDHR1_ENST00000440770.2_Missense_Mutation_p.R430H	NM_033100.2	NP_149091.1	Q96JP9	CDHR1_HUMAN	cadherin-related family member 1	726					homophilic cell adhesion		calcium ion binding|receptor activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(21)|ovary(1)|prostate(1)|skin(1)	36						ACCTTCTGGCGCAACAAGAAG	0.642													A	85973974	G	A	85973974	3	1	712	1	0	0	0	0	1	0	0	0	3148	1087	38	1	2243	1	CDHR1	10	85973974	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	36533698	85973974	49560773	20	54677											
DMBT1	1755	broad.mit.edu	37	chr10	124333279	124333279	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggagtcaactgtagcagaagGtaacgtctactatgggggat	12	9	14	6	1	2	1	1	0	1	1	2	3	2	3	0	4	4	3	0	4	6	4			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr10:124333279G>A	ENST00000338354.3	+	6	389		c.e6+1		DMBT1_ENST00000359586.6_Splice_Site|DMBT1_ENST00000330163.4_Splice_Site|DMBT1_ENST00000344338.3_Splice_Site|DMBT1_ENST00000368909.3_Splice_Site|DMBT1_ENST00000368955.3_Splice_Site|DMBT1_ENST00000368956.2_Splice_Site			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1						epithelial cell differentiation|induction of bacterial agglutination|innate immune response|interspecies interaction between organisms|protein transport|response to virus	extrinsic to membrane|phagocytic vesicle membrane|zymogen granule membrane	calcium-dependent protein binding|Gram-negative bacterial cell surface binding|Gram-positive bacterial cell surface binding|pattern recognition receptor activity|scavenger receptor activity|zymogen binding			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GTAGCAGAAGGTAACGTCTAC	0.527													A	124333279	G	A	124333279	5	1	712	1	0	0	0	0	0	0	1	0	4616	1275	44	2	306	2	DMBT1	10	124333279	Splice_Site	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	38359305	124333279	11201468	21	54678											
LGR4	55366	broad.mit.edu	37	chr11	27398748	27398749	+	Frame_Shift_Del	DEL	TT	TT	-																															attaaaacttggaaggtctcTtatattattgtaagacaagt																										TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:27398748_27398749delTT	ENST00000379214.4	-	12	1508_1509	c.1065_1066delAA	c.(1063-1068)ataagafs	p.IR355fs	LGR4_ENST00000389858.4_Frame_Shift_Del_p.IR331fs	NM_018490.2	NP_060960.2	Q9BXB1	LGR4_HUMAN	leucine-rich repeat containing G protein-coupled receptor 4	355						integral to membrane|plasma membrane	protein-hormone receptor activity			NS(3)|breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(10)|ovary(1)	32						GGAAGGTCTCTTATATTATTGT	0.332													-	27398749	TT	-	27398748	7	5	712	1	0	1	0	1	0	0	0	0	8816	1617	56	0	1817	0	LGR4	11	27398748	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WI-01A-21D-A33T-08		27398748	107607768	22	54679											
SRPR	6734	broad.mit.edu	37	chr11	126135974	126135974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacccagtgttcccttggtcGcactgcagggacaggagatt	8	9	12	12	1	0	1	0	0	0	1	2	3	1	2	2	3	1	3	2	3	0	3	rs138456100	byFrequency	TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr11:126135974G>A	ENST00000332118.6	-	8	1089	c.935C>T	c.(934-936)gCg>gTg	p.A312V	SRPR_ENST00000532259.1_Missense_Mutation_p.A284V	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	312					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		TCCCTTGGTCGCACTGCAGGG	0.478													A	126135974	G	A	126135974	3	1	712	1	0	0	0	0	1	0	0	0	15258	1087	38	1	1009	1	SRPR	11	126135974	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	98737226	126135974	8870542	23	54680											
SAP18	10284	broad.mit.edu	37	chr13	21721465	21721465	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaccacctccttcagggcGcatgagaccatattaaattc	11	9	8	13	1	1	1	1	1	0	1	3	2	2	1	4	2	0	2	4	2	3	4			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:21721465G>A	ENST00000382533.4	+	4	542	c.503G>A	c.(502-504)cGc>cAc	p.R168H	SAP18_ENST00000607003.1_Missense_Mutation_p.R149H	NM_005870.4	NP_005861.2	O00422	SAP18_HUMAN	Sin3A-associated protein, 18kDa	149					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|histone deacetylase complex|plasma membrane	protein binding|transcription corepressor activity	p.R149H(1)		kidney(1)|large_intestine(1)|lung(4)	6		all_cancers(29;2.16e-20)|all_epithelial(30;2.97e-18)|all_lung(29;4.58e-16)|Lung SC(185;0.0262)|Breast(139;0.147)		all cancers(112;9.79e-05)|Epithelial(112;0.000292)|OV - Ovarian serous cystadenocarcinoma(117;0.00276)|Lung(94;0.0941)		CCTTCAGGGCGCATGAGACCA	0.403													A	21721465	G	A	21721465	3	1	712	1	0	0	0	0	1	0	0	0	13923	1087	38	1	517	1	SAP18	13	21721465	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		21721465	93448413	24	54681											
FREM2	341640	broad.mit.edu	37	chr13	39263907	39263907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagttccaggtggaagaccGagctgggaatgtggctccag	9	7	15	10	1	0	1	0	0	0	1	2	4	2	3	4	4	1	3	4	4	2	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr13:39263907G>A	ENST00000280481.7	+	1	2642	c.2426G>A	c.(2425-2427)cGa>cAa	p.R809Q		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	809					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GTGGAAGACCGAGCTGGGAAT	0.542													A	39263907	G	A	39263907	3	1	712	1	0	0	0	0	1	0	0	0	6097	1058	37	1	2428	1	FREM2	13	39263907	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	17542442	39263907	75905971	25	54682											
PSME1	5720	broad.mit.edu	37	chr14	24606754	24606754	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agacaaggatgaaaagaagaAgggggaggatgaagacaaag	21	2	16	2	0	0	6	0	2	0	4	0	9	0	9	0	4	0	0	0	4	7	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr14:24606754A>C	ENST00000382708.3	+	5	335	c.272A>C	c.(271-273)aAg>aCg	p.K91T	PSME1_ENST00000561435.1_Missense_Mutation_p.K91T|PSME1_ENST00000206451.6_Missense_Mutation_p.K91T|PSME1_ENST00000559123.1_5'UTR|PSME1_ENST00000470718.1_3'UTR	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)	91					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		GAAAAGAAGAAGGGGGAGGAT	0.488													C	24606754	A	C	24606754	3	2	712	1	0	0	0	0	1	0	0	0	12791	72	3	5	290	5	PSME1	14	24606754	Missense_Mutation	SNP	A	TCGA-S9-A6WI-01A-21D-A33T-08		24606754	82742786	26	54683											
PKD1	5310	broad.mit.edu	37	chr16	2143667	2143667	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggcgtcacagccgggctctCtaccagggtgtcatcttcat	7	10	11	13	2	5	0	3	0	2	0	6	0	5	0	2	3	2	1	2	3	1	2			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2143667C>T	ENST00000262304.4	-	37	11102	c.10894G>A	c.(10894-10896)Gag>Aag	p.E3632K	PKD1_ENST00000423118.1_Missense_Mutation_p.E3631K|RP11-304L19.1_ENST00000570072.1_RNA	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	3632			E -> D (in ADPKD1).		calcium-independent cell-matrix adhesion|homophilic cell adhesion|neuropeptide signaling pathway	basolateral plasma membrane|integral to plasma membrane	protein domain specific binding|sugar binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GCCGGGCTCTCTACCAGGGTG	0.642													T	2143667	C	T	2143667	3	4	712	1	0	0	0	0	1	0	0	0	12040	922	32	2	2057	2	PKD1	16	2143667	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		2143667	88211086	27	54684											
CASKIN1	57524	broad.mit.edu	37	chr16	2236990	2236990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	catgcttactgtgatgatgtCccctgccttcacgttgaggc	6	13	10	12	1	1	3	1	3	0	0	2	3	2	3	3	1	3	2	3	1	1	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:2236990C>A	ENST00000343516.6	-	9	1011	c.919G>T	c.(919-921)Gac>Tac	p.D307Y		NM_020764.3	NP_065815.1	Q8WXD9	CSKI1_HUMAN	CASK interacting protein 1	307	SH3.				signal transduction	cytoplasm				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|liver(1)|lung(7)|ovary(4)|prostate(5)|skin(3)	28						GTGATGATGTCCCCTGCCTTC	0.652													A	2236990	C	A	2236990	3	1	712	1	0	0	0	0	1	0	0	0	2692	855	30	4	3424	4	CASKIN1	16	2236990	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	93323	2236990	88117763	28	54685											
GRIN2A	2903	broad.mit.edu	37	chr16	10032029	10032029	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcttttgggatgagctccGtgttcccagagaccaagctg	8	11	11	11	1	1	2	0	1	1	1	3	4	3	3	3	1	2	3	3	1	1	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:10032029G>A	ENST00000396573.2	-	4	1103	c.794C>T	c.(793-795)aCg>aTg	p.T265M	GRIN2A_ENST00000562109.1_Missense_Mutation_p.T265M|GRIN2A_ENST00000396575.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000404927.2_Missense_Mutation_p.T265M|GRIN2A_ENST00000566670.1_5'UTR|GRIN2A_ENST00000330684.3_Missense_Mutation_p.T265M|GRIN2A_ENST00000535259.1_Missense_Mutation_p.T108M	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	265					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	p.T265M(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GATGAGCTCCGTGTTCCCAGA	0.552													A	10032029	G	A	10032029	3	1	712	1	0	0	0	0	1	0	0	0	6834	1145	40	1	3644	1	GRIN2A	16	10032029	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	7795039	10032029	80322724	29	54686											
PDILT	204474	broad.mit.edu	37	chr16	20370700	20370702	+	In_Frame_Del	DEL	CCA	CCA	-																															tggaggtccctttggcttagCcaccaccaccaccacctcct																										TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:20370700_20370702delCCA	ENST00000302451.4	-	12	1942_1944	c.1694_1696delTGG	c.(1693-1698)gtggct>gct	p.V565del		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	565					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						TTTGGCTTAGCCACCACCACCAC	0.478													-	20370702	CCA	-	20370700	7	5	712	1	0	1	0	1	0	0	0	0	11750	739	26	0	62	0	PDILT	16	20370700	In_Frame_Del	DEL	CCA	TCGA-S9-A6WI-01A-21D-A33T-08	10338671	20370700	69984053	30	54687											
HYDIN	54768	broad.mit.edu	37	chr16	70841641	70841641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgttgatcttcttgggccGcacagactctccagcgcgaa	7	11	11	12	3	3	2	0	1	3	1	4	3	3	2	2	1	1	3	2	1	1	4			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr16:70841641G>A	ENST00000393567.2	-	86	15358	c.15208C>T	c.(15208-15210)Cgg>Tgg	p.R5070W		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517													A	70841641	G	A	70841641	3	1	712	1	0	0	0	0	1	0	0	0	7525	1086	38	1	161	1	HYDIN	16	70841641	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	50470941	70841641	19513112	31	54688											
FAM83G	644815	broad.mit.edu	37	chr17	18881175	18881175	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgtcgggggccagggccacGgccggagctgcctgagtggc	4	4	19	14	4	0	1	0	1	0	0	1	2	0	2	5	6	2	1	5	6	0	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:18881175G>A	ENST00000388995.6	-	5	2027	c.1804C>T	c.(1804-1806)Cgt>Tgt	p.R602C	FAM83G_ENST00000585154.2_Missense_Mutation_p.R602C|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000345041.4_Missense_Mutation_p.R602C			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	602										central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						CCAGGGCCACGGCCGGAGCTG	0.637													A	18881175	G	A	18881175	3	1	712	1	0	0	0	0	1	0	0	0	5689	1116	39	1	675	1	FAM83G	17	18881175	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		18881175	62314035	32	54689											
NEK8	284086	broad.mit.edu	37	chr17	27061088	27061088	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagatgaccaaggaagagcgGcaggcagcccagaatgagtg	14	3	15	9	1	0	5	0	2	0	3	0	6	0	6	2	3	2	2	2	3	3	0			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:27061088G>A	ENST00000268766.6	+	2	169	c.135G>A	c.(133-135)cgG>cgA	p.R45R	NEK8_ENST00000593261.1_3'UTR|AC010761.6_ENST00000584779.1_RNA	NM_178170.2	NP_835464.1	Q86SG6	NEK8_HUMAN	NIMA-related kinase 8	45	Protein kinase.					cytoplasm|primary cilium	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	Lung NSC(42;0.0158)					AGGAAGAGCGGCAGGCAGCCC	0.527													A	27061088	G	A	27061088	2	1	712	1	0	0	0	0	0	0	0	1	10406	1190	42	2		2	NEK8	17	27061088	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	8179913	27061088	54134122	33	54690											
CDK12	51755	broad.mit.edu	37	chr17	37686866	37686866	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccttccacagcatgtcctcCtcacattcttccaccagaga	9	10	4	18	0	2	1	1	0	1	1	6	2	6	1	6	0	1	1	6	0	0	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:37686866C>G	ENST00000447079.4	+	14	3803	c.3770C>G	c.(3769-3771)cCt>cGt	p.P1257R	CDK12_ENST00000430627.2_Intron	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	1257					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCATGTCCTCCTCACATTCTT	0.512			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			G	37686866	C	G	37686866	3	3	712	1	0	0	0	0	1	0	0	0	3158	681	24	4	3824	4	CDK12	17	37686866	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	10625778	37686866	43508344	34	54691											
SPAG9	9043	broad.mit.edu	37	chr17	49197893	49197893	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctttgaccacctcctcgtcaTagcgcccgataagccgctcg	7	9	8	17	5	1	1	1	1	0	0	4	2	2	1	5	0	2	1	5	0	2	3			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:49197893T>C	ENST00000262013.7	-	1	333	c.125A>G	c.(124-126)tAt>tGt	p.Y42C	SPAG9_ENST00000357122.4_Missense_Mutation_p.Y42C|SPAG9_ENST00000505279.1_Missense_Mutation_p.Y42C	NM_001130528.2	NP_001124000.1	O60271	JIP4_HUMAN	sperm associated antigen 9	42					positive regulation of cell migration|positive regulation of muscle cell differentiation|retrograde transport, endosome to Golgi|spermatogenesis	acrosomal vesicle|integral to membrane|perinuclear region of cytoplasm				NS(1)|breast(3)|endometrium(3)|kidney(4)|large_intestine(8)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)	37			BRCA - Breast invasive adenocarcinoma(22;4.24e-07)			CTCCTCGTCATAGCGCCCGAT	0.667													C	49197893	T	C	49197893	3	2	712	1	0	0	0	0	1	0	0	0	15081	1406	49	3	3960	3	SPAG9	17	49197893	Missense_Mutation	SNP	T	TCGA-S9-A6WI-01A-21D-A33T-08	11511027	49197893	31997317	35	54692											
NUP85	79902	broad.mit.edu	37	chr17	73204634	73204634	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttactagttgattccaggcGtgaattccaagaagaaccaa	14	11	8	8	1	0	4	0	2	0	2	2	4	2	4	3	1	2	1	3	1	7	6			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr17:73204634G>A	ENST00000245544.4	+	2	117	c.46G>A	c.(46-48)Gtg>Atg	p.V16M	NUP85_ENST00000447371.2_5'UTR|NUP85_ENST00000579298.1_Missense_Mutation_p.V16M|NUP85_ENST00000541827.1_Intron|NUP85_ENST00000579324.1_Intron|NUP85_ENST00000449421.2_Intron	NM_024844.3	NP_079120.1	Q9BW27	NUP85_HUMAN	nucleoporin 85kDa	16					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|nuclear membrane|Nup107-160 complex|spindle	protein binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	16	all_lung(278;0.14)|Lung NSC(278;0.168)		all cancers(21;3.45e-06)			GATTCCAGGCGTGAATTCCAA	0.333													A	73204634	G	A	73204634	3	1	712	1	0	0	0	0	1	0	0	0	10846	1145	40	1	52	1	NUP85	17	73204634	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	24006741	73204634	7990576	36	54693											
PLD3	23646	broad.mit.edu	37	chr19	40872763	40872763	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagctgtttctatgggaataCggcgacttgcatctctttgg	7	14	11	9	2	2	0	0	0	2	0	3	2	2	1	0	3	3	3	0	3	3	5			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:40872763C>T	ENST00000409587.1	+	5	583	c.186C>T	c.(184-186)taC>taT	p.Y62Y	PLD3_ENST00000409281.1_Silent_p.Y62Y|PLD3_ENST00000356508.5_Silent_p.Y62Y|PLD3_ENST00000409419.1_Silent_p.Y62Y|PLD3_ENST00000409735.4_Silent_p.Y62Y			Q8IV08	PLD3_HUMAN	phospholipase D family, member 3	62					lipid catabolic process	endoplasmic reticulum membrane|integral to membrane	NAPE-specific phospholipase D activity|phospholipase D activity|protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|liver(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	20			Lung(22;0.000636)|LUSC - Lung squamous cell carcinoma(20;0.00248)			TATGGGAATACGGCGACTTGC	0.632													T	40872763	C	T	40872763	2	4	712	1	0	0	0	0	0	0	0	1	12124	547	19	1		1	PLD3	19	40872763	Silent	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		40872763	18256220	37	54694											
DKKL1	27120	broad.mit.edu	37	chr19	49867940	49867940	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctatccatgatgctgacGcccaagagagctccttgggt	8	10	10	13	1	0	3	0	2	0	1	3	4	3	3	4	1	2	2	4	1	2	2			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49867940G>A	ENST00000221498.2	+	2	517	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	DKKL1_ENST00000594268.1_Intron	NM_014419.3	NP_055234.1	Q9UK85	DKKL1_HUMAN	dickkopf-like 1	38					anatomical structure morphogenesis	extracellular space	protein binding|signal transducer activity			large_intestine(2)|upper_aerodigestive_tract(1)	3		all_lung(116;1.66e-06)|Lung NSC(112;5.89e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		OV - Ovarian serous cystadenocarcinoma(262;0.00156)|GBM - Glioblastoma multiforme(486;0.0456)		TGATGCTGACGCCCAAGAGAG	0.622													A	49867940	G	A	49867940	3	1	712	1	0	0	0	0	1	0	0	0	4587	1087	38	1	118	1	DKKL1	19	49867940	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	8995177	49867940	9261043	38	54695											
CCDC155	147872	broad.mit.edu	37	chr19	49898519	49898519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttcctggttgtcatgcGtgactggattgctgcctgtc	4	15	11	11	1	1	1	1	1	0	0	3	2	2	2	2	2	3	2	2	2	0	3	rs62623430		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:49898519G>A	ENST00000447857.3	+	4	510	c.305G>A	c.(304-306)cGt>cAt	p.R102H		NM_144688.4	NP_653289.3	Q8N6L0	CC155_HUMAN	coiled-coil domain containing 155	102						integral to membrane	calcium ion binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(2)|lung(10)|ovary(1)|stomach(1)	22						GTTGTCATGCGTGACTGGATT	0.552													A	49898519	G	A	49898519	3	1	712	1	0	0	0	0	1	0	0	0	2815	1145	40	1	315	1	CCDC155	19	49898519	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	30579	49898519	9230464	39	54696											
ZNF320	162967	broad.mit.edu	37	chr19	53384108	53384108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttcaaggtgtgatttgCgaatgtaaactttgtcacat	10	16	9	6	1	3	1	2	1	1	0	3	2	3	1	0	1	2	1	0	1	4	4			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr19:53384108C>T	ENST00000595635.1	-	8	1772	c.1271G>A	c.(1270-1272)cGc>cAc	p.R424H	ZNF320_ENST00000391781.2_Missense_Mutation_p.R424H|ZNF320_ENST00000600930.1_Intron|ZNF320_ENST00000597909.1_Intron	NM_207333.2	NP_997216.2	A2RRD8	ZN320_HUMAN	zinc finger protein 320	424					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(4)|large_intestine(5)|liver(1)|lung(10)|urinary_tract(1)	24				GBM - Glioblastoma multiforme(134;0.0534)		GTGTGATTTGCGAATGTAAAC	0.388													T	53384108	C	T	53384108	3	4	712	1	0	0	0	0	1	0	0	0	17940	768	27	1	262	1	ZNF320	19	53384108	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	3485589	53384108	5744875	40	54697											
RALGAPB	57148	broad.mit.edu	37	chr20	37203492	37203492	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgactcctacagtcccccccAtgtccgccggaaacagaaaa	12	6	7	16	2	0	2	0	1	0	1	3	3	3	3	6	1	2	0	6	1	4	1			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr20:37203492A>T	ENST00000262879.6	+	30	4651	c.4367A>T	c.(4366-4368)cAt>cTt	p.H1456L	RALGAPB_ENST00000490114.1_3'UTR|RALGAPB_ENST00000397042.3_Missense_Mutation_p.H1453L|RALGAPB_ENST00000397040.1_Missense_Mutation_p.H1456L|RALGAPB_ENST00000397038.1_Missense_Mutation_p.H1235L			Q86X10	RLGPB_HUMAN	Ral GTPase activating protein, beta subunit (non-catalytic)	1456					activation of Ral GTPase activity	intracellular	protein heterodimerization activity|Ral GTPase activator activity			breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(29)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						AGTCCCCCCCATGTCCGCCGG	0.438													T	37203492	A	T	37203492	3	4	712	1	0	0	0	0	1	0	0	0	13103	217	8	5	4481	5	RALGAPB	20	37203492	Missense_Mutation	SNP	A	TCGA-S9-A6WI-01A-21D-A33T-08		37203492	25822028	41	54698											
TPTE	7179	broad.mit.edu	37	chr21	10942732	10942732	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtaacgtaagtgaggtctaGgtcaaatccatcccttgtgt	10	13	10	8	1	2	1	1	1	1	0	4	1	4	1	2	2	1	2	2	2	4	4			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:10942732G>A	ENST00000298232.7	-	12	1022	c.655C>T	c.(655-657)Cta>Tta	p.L219L	TPTE_ENST00000342420.5_Silent_p.L199L|TPTE_ENST00000361285.4_Silent_p.L237L|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	237					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GTGAGGTCTAGGTCAAATCCA	0.323													A	10942732	G	A	10942732	2	1	712	1	0	0	0	0	0	0	0	1	16531	991	35	2		2	TPTE	21	10942732	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08		10942732	37187163	42	54699											
DNMT3L	29947	broad.mit.edu	37	chr21	45666374	45666374	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttggtgggccacttggccGcgagcttcgagctctgcttg	3	11	15	12	3	1	0	0	0	1	0	2	2	1	0	2	3	3	4	2	3	0	4	rs141318231		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chr21:45666374G>A	ENST00000270172.3	-	12	1553	c.1070C>T	c.(1069-1071)gCg>gTg	p.A357V	DNMT3L_ENST00000418993.1_Missense_Mutation_p.A356V	NM_013369.3	NP_037501.2	Q9UJW3	DNM3L_HUMAN	DNA (cytosine-5-)-methyltransferase 3-like	356					DNA methylation|negative regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|spermatogenesis	cytosol	enzyme activator activity|enzyme binding|metal ion binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(3)	11				Colorectal(79;0.0165)|READ - Rectum adenocarcinoma(84;0.0781)		CCACTTGGCCGCGAGCTTCGA	0.507													A	45666374	G	A	45666374	3	1	712	1	0	0	0	0	1	0	0	0	4717	1087	38	1	97	1	DNMT3L	21	45666374	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	34723642	45666374	2463521	43	54700											
RGAG4	340526	broad.mit.edu	37	chrX	71351177	71351177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcgatctcactgagcgCgaactccaagttctcctccg	8	10	8	15	4	2	1	1	1	2	0	7	4	4	1	3	0	2	1	3	0	2	2			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:71351177C>T	ENST00000545866.1	-	1	581	c.214G>A	c.(214-216)Gcg>Acg	p.A72T	NHSL2_ENST00000540800.1_Intron|RGAG4_ENST00000609883.1_Missense_Mutation_p.A72T	NM_001024455.3	NP_001019626.1	Q5HYW3	RGAG4_HUMAN	retrotransposon gag domain containing 4	72										cervix(2)|endometrium(2)|kidney(3)|large_intestine(5)|lung(8)|ovary(3)|skin(1)	24	Renal(35;0.156)					TCACTGAGCGCGAACTCCAAG	0.597													T	71351177	C	T	71351177	3	4	712	1	0	0	0	0	1	0	0	0	13363	768	27	1	1499	1	RGAG4	23	71351177	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08		71351177	83919383	44	54701											
TBC1D8B	54885	broad.mit.edu	37	chrX	106082571	106082571	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagtctacagagccatctGataattttgaggtgcaatct	11	13	9	8	0	3	4	0	3	3	1	3	4	3	4	1	1	3	1	1	1	3	4	rs138021287		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:106082571G>T	ENST00000357242.5	+	8	1411	c.1237G>T	c.(1237-1239)Gat>Tat	p.D413Y	TBC1D8B_ENST00000310452.2_Missense_Mutation_p.D413Y|TBC1D8B_ENST00000276175.3_Missense_Mutation_p.D407Y	NM_017752.2	NP_060222.2	Q0IIM8	TBC8B_HUMAN	TBC1 domain family, member 8B (with GRAM domain)	413						intracellular	calcium ion binding|Rab GTPase activator activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(6)|liver(4)|lung(15)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGAGCCATCTGATAATTTTGA	0.378													T	106082571	G	T	106082571	3	4	712	1	0	0	0	0	1	0	0	0	15726	1290	45	4	1267	4	TBC1D8B	23	106082571	Missense_Mutation	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	34731394	106082571	49187989	45	54702											
HTR2C	3358	broad.mit.edu	37	chrX	114082755	114082755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagattgctattgtttgggCaatttctataggtaaataaa	14	15	9	3	0	1	1	0	0	1	1	1	2	1	1	0	2	1	4	0	2	9	9			TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:114082755C>T	ENST00000276198.1	+	5	1267	c.539C>T	c.(538-540)gCa>gTa	p.A180V	HTR2C_ENST00000371951.1_Missense_Mutation_p.A180V|HTR2C_ENST00000371950.3_Intron	NM_000868.2	NP_000859.1	P28335	5HT2C_HUMAN	5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled	180					cGMP biosynthetic process|ERK1 and ERK2 cascade|feeding behavior|phosphatidylinositol biosynthetic process|release of sequestered calcium ion into cytosol|response to drug|synaptic transmission	cytoplasm|integral to membrane|nucleus|plasma membrane	1-(4-iodo-2,5-dimethoxyphenyl)propan-2-amine binding|drug binding|phosphatidylinositol phospholipase C activity|protein binding|serotonin binding|serotonin receptor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(15)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	50					Chlorprothixene(DB01239)|Clozapine(DB00363)|Dexfenfluramine(DB01191)|Fenfluramine(DB00574)|Methysergide(DB00247)|Mianserin(DB06148)|Minaprine(DB00805)|Mirtazapine(DB00370)|Olanzapine(DB00334)|Promazine(DB00420)|Propiomazine(DB00777)|Quetiapine(DB01224)|Sertindole(DB06144)|Thiethylperazine(DB00372)|Tramadol(DB00193)|Ziprasidone(DB00246)	ATTGTTTGGGCAATTTCTATA	0.408													T	114082755	C	T	114082755	3	4	712	1	0	0	0	0	1	0	0	0	7501	710	25	2	549	2	HTR2C	23	114082755	Missense_Mutation	SNP	C	TCGA-S9-A6WI-01A-21D-A33T-08	8000184	114082755	41187805	46	54703											
AVPR2	554	broad.mit.edu	37	chrX	153171401	153171401	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgccgtcccatgctggcGtaccgccatggaagtggggc	6	8	14	13	3	1	0	0	0	1	0	2	1	2	1	4	4	3	2	4	4	2	1	rs143055328		TCGA-S9-A6WI-01A-21D-A33T-08	TCGA-S9-A6WI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	94f85240-c7fa-4026-b140-a777f230e3c9	b796628d-4a83-41f2-a924-33daf125d626	g.chrX:153171401G>A	ENST00000358927.2	+	3	650	c.441G>A	c.(439-441)gcG>gcA	p.A147A	AVPR2_ENST00000370049.1_Silent_p.A147A|AVPR2_ENST00000337474.5_Silent_p.A147A			P30518	V2R_HUMAN	arginine vasopressin receptor 2	147			A -> V (in dbSNP:rs5200).		activation of adenylate cyclase activity|excretion|G-protein signaling, coupled to cAMP nucleotide second messenger|hemostasis|positive regulation of gene expression|transmembrane transport|water transport	endoplasmic reticulum|endosome|Golgi apparatus|integral to plasma membrane	vasopressin receptor activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|skin(1)	26	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)				Conivaptan(DB00872)|Terlipressin(DB02638)|Vasopressin(DB00067)	CCATGCTGGCGTACCGCCATG	0.627													A	153171401	G	A	153171401	2	1	712	1	0	0	0	0	0	0	0	1	1238	1132	40	1		1	AVPR2	23	153171401	Silent	SNP	G	TCGA-S9-A6WI-01A-21D-A33T-08	39088646	153171401	2099159	47	54704											
EPHA8	2046	broad.mit.edu	37	chr1	22903061	22903061	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagctcaacacggaggtgCgcagtgtgggtcccctcagc	8	7	13	13	2	3	0	3	0	0	0	4	1	4	1	2	3	4	2	2	3	2	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:22903061C>T	ENST00000166244.3	+	3	583	c.511C>T	c.(511-513)Cgc>Tgc	p.R171C	EPHA8_ENST00000538803.1_Missense_Mutation_p.R171C|EPHA8_ENST00000374644.4_Missense_Mutation_p.R171C	NM_020526.3	NP_065387.1	P29322	EPHA8_HUMAN	EPH receptor A8	171						integral to plasma membrane	ATP binding|ephrin receptor activity	p.R171C(2)		breast(3)|central_nervous_system(5)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(9)|large_intestine(6)|lung(22)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	61		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;7.29e-27)|Colorectal(126;1.61e-07)|COAD - Colon adenocarcinoma(152;1.14e-05)|GBM - Glioblastoma multiforme(114;1.74e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000554)|KIRC - Kidney renal clear cell carcinoma(1967;0.00272)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		CACGGAGGTGCGCAGTGTGGG	0.582													T	22903061	C	T	22903061	3	4	713	1	0	0	0	0	1	0	0	0	5214	768	27	1	521	1	EPHA8	1	22903061	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		22903061	226347560	1	54705											
BCL9	607	broad.mit.edu	37	chr1	147092748	147092748	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctccatcacttcctgccccGtcacctggatggacctcttc	5	12	6	18	1	4	0	2	0	2	0	7	2	5	2	6	2	1	0	6	2	0	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:147092748G>A	ENST00000234739.3	+	8	3527	c.2787G>A	c.(2785-2787)ccG>ccA	p.P929P		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	929	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.P929P(2)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					TTCCTGCCCCGTCACCTGGAT	0.597			T	"IGH@, IGL@"	B-ALL								A	147092748	G	A	147092748	2	1	713	1	0	0	0	0	0	0	0	1	1386	1132	40	1		1	BCL9	1	147092748	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	124189687	147092748	102157873	2	54706											
ARNT	405	broad.mit.edu	37	chr1	150801696	150801696	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtctgtacagttgggagaaCtagttacctgagagtgaaga	12	11	13	5	0	1	4	0	2	1	3	1	6	1	4	1	1	3	3	1	1	5	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:150801696C>G	ENST00000358595.5	-	12	1240	c.1040G>C	c.(1039-1041)aGt>aCt	p.S347T	ARNT_ENST00000505755.1_Missense_Mutation_p.S332T|ARNT_ENST00000354396.2_Missense_Mutation_p.S347T|ARNT_ENST00000515192.1_Missense_Mutation_p.S333T	NM_001197325.1|NM_001668.3|NM_178427.2	NP_001184254.1|NP_001659.1|NP_848514.1	P27540	ARNT_HUMAN	aryl hydrocarbon receptor nuclear translocator	347					positive regulation of hormone biosynthetic process|positive regulation vascular endothelial growth factor production|regulation of transcription from RNA polymerase II promoter in response to oxidative stress|response to hypoxia		aryl hydrocarbon receptor binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|signal transducer activity|transcription coactivator activity			central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|prostate(2)|skin(4)|stomach(1)	34	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.02)|BRCA - Breast invasive adenocarcinoma(12;0.00606)|LUSC - Lung squamous cell carcinoma(543;0.211)			GTTGGGAGAACTAGTTACCTG	0.383			T	ETV6	AML								G	150801696	C	G	150801696	3	3	713	1	0	0	0	0	1	0	0	0	970	565	20	4	1373	4	ARNT	1	150801696	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	3708948	150801696	98448925	3	54707											
TCHHL1	126637	broad.mit.edu	37	chr1	152058921	152058921	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtttccaggactagtggccGagtttttctgtcacgttctt	5	16	11	9	2	3	0	1	0	2	0	4	2	4	1	2	3	0	3	2	3	1	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:152058921G>A	ENST00000368806.1	-	3	1301	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	413							calcium ion binding			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			ACTAGTGGCCGAGTTTTTCTG	0.443													A	152058921	G	A	152058921	3	1	713	1	0	0	0	0	1	0	0	0	15801	1057	37	1	1481	1	TCHHL1	1	152058921	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1257225	152058921	97191700	4	54708											
PKLR	5313	broad.mit.edu	37	chr1	155269925	155269925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggtactgcgagcagccaCgggctcggagtcaatgtcca	8	7	14	12	3	1	0	1	0	0	0	3	2	2	1	2	3	4	4	2	3	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:155269925C>T	ENST00000392414.3	-	2	267	c.154G>A	c.(154-156)Gtg>Atg	p.V52M	PKLR_ENST00000342741.4_Missense_Mutation_p.V83M	NM_181871.3	NP_870986.1	P30613	KPYR_HUMAN	pyruvate kinase, liver and RBC	83			Missing (in PKRD).		endocrine pancreas development|energy reserve metabolic process|glycolysis|positive regulation of cellular metabolic process	cytosol	ATP binding|magnesium ion binding|potassium ion binding|pyruvate kinase activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(78;6.99e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.145)		Epithelial(20;3.18e-10)|all cancers(21;7.9e-10)|BRCA - Breast invasive adenocarcinoma(34;0.00116)|LUSC - Lung squamous cell carcinoma(543;0.127)		Pyruvic acid(DB00119)	CGAGCAGCCACGGGCTCGGAG	0.582													T	155269925	C	T	155269925	3	4	713	1	0	0	0	0	1	0	0	0	12053	536	19	1	1517	1	PKLR	1	155269925	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	3211004	155269925	93980696	5	54709											
HMCN1	83872	broad.mit.edu	37	chr1	185970471	185970471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacaagttacaaatgtgTcggtgttgttaaatcagctg	14	12	10	5	1	1	1	1	0	0	1	2	1	1	1	0	1	3	4	0	1	7	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:185970471T>C	ENST00000271588.4	+	27	4340	c.4111T>C	c.(4111-4113)Tcg>Ccg	p.S1371P	HMCN1_ENST00000367492.2_Missense_Mutation_p.S1371P	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1371	Ig-like C2-type 11.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TACAAATGTGTCGGTGTTGTT	0.348													C	185970471	T	C	185970471	3	2	713	1	0	0	0	0	1	0	0	0	7275	1667	58	3	4217	3	HMCN1	1	185970471	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	30700546	185970471	63280150	6	54710											
TMEM183A	92703	broad.mit.edu	37	chr1	202992124	202992125	+	Frame_Shift_Del	DEL	TT	TT	-																															cagtgcacagcgttcggctcTttgactggtggcatcctcag																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:202992124_202992125delTT	ENST00000367242.3	+	8	1167_1168	c.1087_1088delTT	c.(1087-1089)tttfs	p.F363fs		NM_001079809.1|NM_138391.4	NP_001073277.1|NP_612400.3			transmembrane protein 183A											endometrium(1)|large_intestine(2)|lung(1)|skin(3)	7			BRCA - Breast invasive adenocarcinoma(75;0.18)			CGTTCGGCTCTTTGACTGGTGG	0.545													-	202992125	TT	-	202992124	7	5	713	1	0	1	0	1	0	0	0	0	16202	1609	56	0	1117	0	TMEM183A	1	202992124	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WL-01A-21D-A33T-08	17021653	202992124	46258497	7	54711											
ARID4B	51742	broad.mit.edu	37	chr1	235345318	235345319	+	Frame_Shift_Del	DEL	CA	CA	-																															gaacaactctcctcttcagcCacagtctgcagtgactcctc																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr1:235345318_235345319delCA	ENST00000264183.3	-	20	3412_3413	c.2915_2916delTG	c.(2914-2916)gtgfs	p.V972fs	ARID4B_ENST00000349213.3_Frame_Shift_Del_p.V886fs|ARID4B_ENST00000366603.2_Frame_Shift_Del_p.V972fs	NM_016374.5	NP_057458.4	Q4LE39	ARI4B_HUMAN	AT rich interactive domain 4B (RBP1-like)	972					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding			NS(1)|breast(2)|large_intestine(2)|lung(1)|ovary(2)	8	Ovarian(103;0.0473)|Breast(184;0.23)	all_cancers(173;0.000782)|Prostate(94;0.0132)|all_epithelial(177;0.0808)|Lung SC(1967;0.24)	OV - Ovarian serous cystadenocarcinoma(106;2.86e-05)			CCTCTTCAGCCACAGTCTGCAG	0.5													-	235345319	CA	-	235345318	7	5	713	1	0	1	0	1	0	0	0	0	923	581	21	0	1042	0	ARID4B	1	235345318	Frame_Shift_Del	DEL	CA	TCGA-S9-A6WL-01A-21D-A33T-08	32353194	235345318	13905303	8	54712											
HEATR5B	54497	broad.mit.edu	37	chr2	37241030	37241033	+	Frame_Shift_Del	DEL	CTCT	CTCT	-																															gtttttccatggtcgtggcaCtctctcggtacagctggctg																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:37241030_37241033delCTCT	ENST00000233099.5	-	27	4330_4333	c.4235_4238delAGAG	c.(4234-4239)gagagtfs	p.ES1412fs	HEATR5B_ENST00000354531.2_Frame_Shift_Del_p.ES1412fs	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1412							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GGTCGTGGCACTCTCTCGGTACAG	0.451													-	37241033	CTCT	-	37241030	7	5	713	1	0	1	0	1	0	0	0	0	7087	565	20	0	2017	0	HEATR5B	2	37241030	Frame_Shift_Del	DEL	CTCT	TCGA-S9-A6WL-01A-21D-A33T-08		37241030	205958343	9	54713											
SLC8A1	6546	broad.mit.edu	37	chr2	40405554	40405554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcactcatctccaccaggcGgggctctccaatctcaagga	9	8	8	16	1	5	0	3	0	3	0	8	1	5	1	3	4	0	1	3	4	2	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:40405554G>A	ENST00000542756.1	-	3	1911	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C	SLC8A1_ENST00000332839.4_Missense_Mutation_p.R630C|SLC8A1_ENST00000406391.2_Intron|SLC8A1-AS1_ENST00000444629.1_RNA|SLC8A1-AS1_ENST00000599740.1_RNA|SLC8A1-AS1_ENST00000593878.1_RNA|SLC8A1-AS1_ENST00000599268.1_RNA|SLC8A1_ENST00000542024.1_Intron|SLC8A1-AS1_ENST00000598247.1_RNA|SLC8A1-AS1_ENST00000596532.1_RNA|SLC8A1-AS1_ENST00000435515.1_RNA|SLC8A1_ENST00000405269.1_Intron|SLC8A1-AS1_ENST00000599956.1_RNA|SLC8A1_ENST00000408028.2_Intron|SLC8A1-AS1_ENST00000593848.1_RNA|SLC8A1-AS1_ENST00000601679.1_RNA|SLC8A1_ENST00000403092.1_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000597385.1_RNA|SLC8A1_ENST00000402441.1_Intron|SLC8A1_ENST00000405901.3_Missense_Mutation_p.R630C|SLC8A1-AS1_ENST00000597170.1_RNA|SLC8A1_ENST00000406785.2_Intron			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1	630					cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TCCACCAGGCGGGGCTCTCCA	0.498													A	40405554	G	A	40405554	3	1	713	1	0	0	0	0	1	0	0	0	14800	1116	39	1	1177	1	SLC8A1	2	40405554	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	3164524	40405554	202793819	10	54714											
INO80B	83444	broad.mit.edu	37	chr2	74683365	74683367	+	In_Frame_Del	DEL	AGG	AGG	-																															tgacaatggagacctcaagaAggagatcaatgagcggctgc																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:74683365_74683367delAGG	ENST00000233331.7	+	4	600_602	c.506_508delAGG	c.(505-510)aaggag>aag	p.E170del	INO80B_ENST00000469849.1_3'UTR|INO80B_ENST00000409917.1_In_Frame_Del_p.E170del	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	170					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GACCTCAAGAAGGAGATCAATGA	0.517													-	74683367	AGG	-	74683365	7	5	713	1	0	1	0	1	0	0	0	0	7805	72	3	0	520	0	INO80B	2	74683365	In_Frame_Del	DEL	AGG	TCGA-S9-A6WL-01A-21D-A33T-08	34277811	74683365	168516008	11	54715											
IL1B	3553	broad.mit.edu	37	chr2	113591112	113591112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggagattcgtagctggatgCcgccatccagagggcagagg	9	6	16	10	3	0	3	0	0	0	3	2	5	1	4	3	4	2	3	3	4	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:113591112C>T	ENST00000263341.2	-	4	350	c.140G>A	c.(139-141)gGc>gAc	p.G47D	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	47					activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)	TAGCTGGATGCCGCCATCCAG	0.612													T	113591112	C	T	113591112	3	4	713	1	0	0	0	0	1	0	0	0	7709	739	26	2	685	2	IL1B	2	113591112	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	38907747	113591112	129608261	12	54716											
INSIG2	51141	broad.mit.edu	37	chr2	118865866	118865867	+	Frame_Shift_Del	DEL	AA	AA	-																															aatttttgcagtacgaatgtAaagttatcgcagaaaaatct																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:118865866_118865867delAA	ENST00000245787.4	+	6	852_853	c.646_647delAA	c.(646-648)aaafs	p.K216fs	INSIG2_ENST00000485520.1_3'UTR	NM_016133.2	NP_057217.2	Q9Y5U4	INSI2_HUMAN	insulin induced gene 2	216					ER-nuclear sterol response pathway	SREBP-SCAP-Insig complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13						GTACGAATGTAAAGTTATCGCA	0.302													-	118865867	AA	-	118865866	7	5	713	1	0	1	0	1	0	0	0	0	7824	363	13	0	664	0	INSIG2	2	118865866	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WL-01A-21D-A33T-08	5274754	118865866	124333507	13	54717											
AGPS	8540	broad.mit.edu	37	chr2	178402897	178402897	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgtggaccccaataacAtctttggaaacagaaacctt	16	10	6	9	0	1	1	0	0	1	1	1	3	1	3	3	2	3	0	3	2	6	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:178402897A>G	ENST00000264167.4	+	20	2097	c.1951A>G	c.(1951-1953)Atc>Gtc	p.I651V	AGPS_ENST00000409888.1_Missense_Mutation_p.I182V	NM_003659.3	NP_003650.1	O00116	ADAS_HUMAN	alkylglycerone phosphate synthase	651					ether lipid biosynthetic process	peroxisomal matrix|peroxisomal membrane|plasma membrane	alkylglycerone-phosphate synthase activity|flavin adenine dinucleotide binding|oxidoreductase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|skin(1)	32			OV - Ovarian serous cystadenocarcinoma(117;0.0018)|Epithelial(96;0.00919)|all cancers(119;0.0358)			CCCCAATAACATCTTTGGAAA	0.353													G	178402897	A	G	178402897	3	3	713	1	0	0	0	0	1	0	0	0	394	217	8	3	2029	3	AGPS	2	178402897	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	59537031	178402897	64796476	14	54718											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	713	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	30710215	209113112	34086261	15	54719											
MAP2	4133	broad.mit.edu	37	chr2	210574671	210574671	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgcagagcagggaagagtgGtacctcaacacccactaccc	12	5	10	14	1	1	2	1	0	0	2	2	3	1	3	3	2	4	3	3	2	4	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:210574671G>A	ENST00000360351.4	+	12	5272	c.4766G>A	c.(4765-4767)gGt>gAt	p.G1589D	MAP2_ENST00000475600.1_3'UTR|MAP2_ENST00000447185.1_Missense_Mutation_p.G1585D|MAP2_ENST00000361559.4_Missense_Mutation_p.G233D|MAP2_ENST00000199940.6_Missense_Mutation_p.G290D|MAP2_ENST00000392194.1_Missense_Mutation_p.G233D	NM_002374.3	NP_002365.3	P11137	MAP2_HUMAN	microtubule-associated protein 2	1589					central nervous system neuron development|dendrite morphogenesis|negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	beta-dystroglycan binding|calmodulin binding|structural molecule activity			breast(7)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(36)|liver(2)|lung(42)|ovary(11)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	124		Hepatocellular(293;0.137)|Lung NSC(271;0.163)|Renal(323;0.202)		UCEC - Uterine corpus endometrioid carcinoma (47;6.64e-05)|Epithelial(149;3.12e-100)|all cancers(144;6.88e-91)|Lung(261;0.0624)|LUSC - Lung squamous cell carcinoma(261;0.0662)|STAD - Stomach adenocarcinoma(1183;0.18)	Estramustine(DB01196)	GGGAAGAGTGGTACCTCAACA	0.517													A	210574671	G	A	210574671	3	1	713	1	0	0	0	0	1	0	0	0	9310	1261	44	2	4975	2	MAP2	2	210574671	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1461559	210574671	32624702	16	54720											
ERBB4	2066	broad.mit.edu	37	chr2	212578296	212578296	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgcaaggtttacacatttTaatcccattttcttctactt	10	18	4	9	0	2	0	0	0	2	0	3	0	3	0	1	1	3	2	1	1	4	9			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:212578296T>C	ENST00000342788.4	-	8	1271	c.961A>G	c.(961-963)Aaa>Gaa	p.K321E	ERBB4_ENST00000436443.1_Missense_Mutation_p.K321E|ERBB4_ENST00000402597.1_Missense_Mutation_p.K321E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	321	Cys-rich.				cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent|transmembrane receptor protein tyrosine kinase signaling pathway	basolateral plasma membrane|cytoplasm|integral to membrane|nucleus	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)		TTACACATTTTAATCCCATTT	0.363										TSP Lung(8;0.080)			C	212578296	T	C	212578296	3	2	713	1	0	0	0	0	1	0	0	0	5250	1763	61	3	3049	3	ERBB4	2	212578296	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2003625	212578296	30621077	17	54721											
ZNF142	7701	broad.mit.edu	37	chr2	219507566	219507566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcaggggatgcggccaaTgcctgtgtgtcgggactggt	5	9	18	9	2	0	0	0	0	0	0	1	2	0	2	2	5	3	2	2	5	1	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:219507566T>C	ENST00000411696.2	-	7	4452	c.3673A>G	c.(3673-3675)Att>Gtt	p.I1225V	ZNF142_ENST00000449707.1_Missense_Mutation_p.I1225V			P52746	ZN142_HUMAN	zinc finger protein 142	1225					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(7)|endometrium(7)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	38		Renal(207;0.0474)		Epithelial(149;5.21e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)		ATGCGGCCAATGCCTGTGTGT	0.577													C	219507566	T	C	219507566	3	2	713	1	0	0	0	0	1	0	0	0	17832	1464	51	3	1402	3	ZNF142	2	219507566	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	6929270	219507566	23691807	18	54722											
ITM2C	81618	broad.mit.edu	37	chr2	231729747	231729747	+	Frame_Shift_Del	DEL	A	A	-																															gggccggcgcagccatggtgAagattagcttccagcccgcc																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:231729747delA	ENST00000326427.6	+	1	133	c.7delA	c.(7-9)aagfs	p.K3fs	ITM2C_ENST00000326407.6_Frame_Shift_Del_p.K3fs|ITM2C_ENST00000335005.6_Frame_Shift_Del_p.K3fs	NM_030926.4	NP_112188.1	Q9NQX7	ITM2C_HUMAN	integral membrane protein 2C	3					negative regulation of neuron projection development|neuron differentiation	Golgi apparatus|integral to membrane|lysosomal membrane|perinuclear region of cytoplasm	beta-amyloid binding			cervix(2)|lung(1)|ovary(1)|skin(1)	5		Renal(207;0.0112)|all_lung(227;0.0741)|all_hematologic(139;0.0748)|Acute lymphoblastic leukemia(138;0.167)|Lung NSC(271;0.204)		Epithelial(121;8.47e-12)|all cancers(144;3.44e-09)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0142)		AGCCATGGTGAAGATTAGCTT	0.716													-	231729747	A	-	231729747	7	5	713	1	0	1	0	1	0	0	0	0	7972	247	9	0	9	0	ITM2C	2	231729747	Frame_Shift_Del	DEL	A	TCGA-S9-A6WL-01A-21D-A33T-08	12222181	231729747	11469626	19	54723											
ALPI	248	broad.mit.edu	37	chr2	233322995	233322995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcactgaggcggtcatgttcGacgacgccattgagagggcg	8	8	15	10	5	2	2	2	2	0	1	3	5	2	2	1	3	0	1	1	3	0	2	rs151137290		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr2:233322995G>A	ENST00000295463.3	+	9	1137	c.1060G>A	c.(1060-1062)Gac>Aac	p.D354N		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	354					phosphorylation	anchored to membrane|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding|protein binding	p.D354N(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		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;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGTCATGTTCGACGACGCCAT	0.622													A	233322995	G	A	233322995	3	1	713	1	0	0	0	0	1	0	0	0	543	1058	37	1	1094	1	ALPI	2	233322995	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	1593248	233322995	9876378	20	54724											
LRTM1	57408	broad.mit.edu	37	chr3	54952872	54952872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatcctaaggaggtcctttcCcttccaggtgtctggtgatt	6	14	11	10	0	1	1	0	1	1	0	5	3	5	2	4	4	0	0	4	4	1	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:54952872C>T	ENST00000273286.5	-	3	814	c.652G>A	c.(652-654)Gga>Aga	p.G218R	CACNA2D3_ENST00000490478.1_Intron|LRTM1_ENST00000493075.1_Missense_Mutation_p.G142R|CACNA2D3_ENST00000415676.2_Intron|CACNA2D3_ENST00000474759.1_Intron|CACNA2D3_ENST00000288197.5_Intron	NM_020678.2	NP_065729.1	Q9HBL6	LRTM1_HUMAN	leucine-rich repeats and transmembrane domains 1	218	LRRCT.					integral to membrane				breast(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(4)	21				KIRC - Kidney renal clear cell carcinoma(284;0.00975)|Kidney(284;0.0112)|OV - Ovarian serous cystadenocarcinoma(275;0.0502)		AGGTCCTTTCCCTTCCAGGTG	0.517													T	54952872	C	T	54952872	3	4	713	1	0	0	0	0	1	0	0	0	9114	632	22	2	389	2	LRTM1	3	54952872	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		54952872	143069558	21	54725											
ZBTB20	26137	broad.mit.edu	37	chr3	114058228	114058230	+	In_Frame_Del	DEL	AAG	AAG	-																															gcttgataaggtaatcctttAaggagaaggagcgccaacag																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:114058228_114058230delAAG	ENST00000462705.1	-	12	2450_2452	c.1629_1631delCTT	c.(1627-1632)tcctta>tca	p.L544del	ZBTB20_ENST00000464560.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000474710.1_In_Frame_Del_p.L617del|ZBTB20_ENST00000471418.1_In_Frame_Del_p.L544del|ZBTB20_ENST00000357258.3_In_Frame_Del_p.L544del|ZBTB20_ENST00000393785.2_In_Frame_Del_p.L544del|ZBTB20_ENST00000481632.1_In_Frame_Del_p.L544del	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	617					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		GTAATCCTTTAAGGAGAAGGAGC	0.507													-	114058230	AAG	-	114058228	7	5	713	1	0	1	0	1	0	0	0	0	17630	372	13	0	379	0	ZBTB20	3	114058228	In_Frame_Del	DEL	AAG	TCGA-S9-A6WL-01A-21D-A33T-08	59105356	114058228	83964202	22	54726											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	8	10	14	9	3	0	2	0	1	0	1	2	5	1	3	2	2	2	1	2	2	2	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*|KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													T	124418865	C	T	124418865	4	4	713	1	0	0	0	0	0	1	0	0	8033	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10360637	124418865	73603565	23	54727											
PLXND1	23129	broad.mit.edu	37	chr3	129291460	129291460	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaggcttacatcagctcCgtgcaggggtctgtgtcgtt	6	11	13	11	2	2	1	1	0	1	1	4	1	3	1	2	3	3	4	2	3	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:129291460C>T	ENST00000393239.1	-	15	3247	c.3069G>A	c.(3067-3069)acG>acA	p.T1023T	PLXND1_ENST00000324093.4_Silent_p.T1023T			Q9Y4D7	PLXD1_HUMAN	plexin D1	1023	IPT/TIG 2.				axon guidance	integral to membrane|intracellular|plasma membrane			PLXND1/TMCC1(4)	NS(1)|breast(1)|endometrium(4)|kidney(5)|large_intestine(17)|lung(28)|prostate(10)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	72						ACATCAGCTCCGTGCAGGGGT	0.632													T	129291460	C	T	129291460	2	4	713	1	0	0	0	0	0	0	0	1	12204	639	23	1		1	PLXND1	3	129291460	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	4872595	129291460	68730970	24	54728											
EPHB1	2047	broad.mit.edu	37	chr3	134967317	134967317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ataagatgatccggaacccgGcaagtctcaagactgtggca	13	7	11	10	2	1	3	1	1	1	2	3	4	2	4	2	3	1	2	2	3	4	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:134967317G>A	ENST00000398015.3	+	14	3026	c.2656G>A	c.(2656-2658)Gca>Aca	p.A886T	EPHB1_ENST00000493838.1_Missense_Mutation_p.A447T	NM_004441.4	NP_004432.1	P54762	EPHB1_HUMAN	EPH receptor B1	886						integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(13)|lung(63)|ovary(8)|pancreas(2)|prostate(8)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	130						CCGGAACCCGGCAAGTCTCAA	0.552													A	134967317	G	A	134967317	3	1	713	1	0	0	0	0	1	0	0	0	5215	1203	42	2	2710	2	EPHB1	3	134967317	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	5675857	134967317	63055113	25	54729											
LMLN	89782	broad.mit.edu	37	chr3	197702982	197702982	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggcactatcttacttagcaGgtatgtcacatgaaacacag	13	10	9	9	0	2	1	1	1	1	0	2	1	2	1	0	2	3	3	0	2	5	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr3:197702982G>A	ENST00000330198.4	+	4	453	c.431G>A	c.(430-432)aGa>aAa	p.R144K	LMLN_ENST00000332636.5_Splice_Site_p.R92K|LMLN_ENST00000420910.2_Splice_Site_p.R144K|LMLN_ENST00000482695.1_Splice_Site_p.R92K	NM_033029.3	NP_149018.2	Q96KR4	LMLN_HUMAN	leishmanolysin-like (metallopeptidase M8 family)	144					cell adhesion|cell division|mitosis|proteolysis	cytoplasm|membrane	metalloendopeptidase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)	Lung NSC(153;0.132)	Epithelial(36;9.84e-24)|all cancers(36;3.18e-22)|OV - Ovarian serous cystadenocarcinoma(49;5.35e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.111)		TTACTTAGCAGGTATGTCACA	0.373													A	197702982	G	A	197702982	5	1	713	1	0	0	0	0	0	0	1	0	8908	1014	35	2	445	2	LMLN	3	197702982	Splice_Site	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	62735665	197702982	319448	26	54730											
RBPJ	3516	broad.mit.edu	37	chr4	26426019	26426022	+	Frame_Shift_Del	DEL	AGTT	AGTT	-																															aatcgactacgatcccagacAgttagtaccagatacttgca																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:26426019_26426022delAGTT	ENST00000342320.4	+	6	725_728	c.549_552delAGTT	c.(547-552)acagttfs	p.TV183fs	RBPJ_ENST00000361572.6_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000355476.3_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.TV197fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.TV162fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.TV183fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.TV184fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.TV182fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	197					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GATCCCAGACAGTTAGTACCAGAT	0.412													-	26426022	AGTT	-	26426019	7	5	713	1	0	1	0	1	0	0	0	0	13249	175	7	0	676	0	RBPJ	4	26426019	Frame_Shift_Del	DEL	AGTT	TCGA-S9-A6WL-01A-21D-A33T-08		26426019	164728257	27	54731											
GABRA4	2557	broad.mit.edu	37	chr4	46967170	46967170	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatgaaccagtccatggcGgtagcataggacactttggg	10	9	13	9	1	0	1	0	1	0	0	1	2	1	2	2	4	2	3	2	4	4	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:46967170G>A	ENST00000264318.3	-	8	1933	c.951C>T	c.(949-951)acC>acT	p.T317T		NM_000809.3|NM_001204266.1|NM_001204267.1	NP_000800.2|NP_001191195.1|NP_001191196.1	P48169	GBRA4_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 4	317					gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	45					Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	AGTCCATGGCGGTAGCATAGG	0.433													A	46967170	G	A	46967170	2	1	713	1	0	0	0	0	0	0	0	1	6215	1103	39	1		1	GABRA4	4	46967170	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	20541151	46967170	144187106	28	54732											
MUC7	4589	broad.mit.edu	37	chr4	71346666	71346666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctataaatgtctgcacaaaCgctgtaggcctaagcttcca	12	10	7	12	1	1	0	0	0	1	0	2	0	2	0	3	1	3	4	3	1	6	5			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:71346666C>T	ENST00000413702.1	+	4	493	c.205C>T	c.(205-207)Cgc>Tgc	p.R69C	MUC7_ENST00000514512.1_3'UTR|MUC7_ENST00000304887.5_Missense_Mutation_p.R69C|MUC7_ENST00000456088.1_Missense_Mutation_p.R69C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	69						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TCTGCACAAACGCTGTAGGCC	0.443													T	71346666	C	T	71346666	3	4	713	1	0	0	0	0	1	0	0	0	10057	536	19	1	211	1	MUC7	4	71346666	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	24379496	71346666	119807610	29	54733											
SMAD1	4086	broad.mit.edu	37	chr4	146474982	146474983	+	Frame_Shift_Ins	INS	-	-	A																															aggtgtatgccgaatgccttINSagtgacagtagcatctttgt																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:146474982_146474983insA	ENST00000515385.1	+	6	1586_1587	c.1044_1045insA	c.(1045-1047)agtfs	p.S349fs	SMAD1_ENST00000394092.2_Frame_Shift_Ins_p.S349fs|SMAD1_ENST00000302085.4_Frame_Shift_Ins_p.S349fs			Q15797	SMAD1_HUMAN	SMAD family member 1	349	MH2.				BMP signaling pathway|embryonic pattern specification|primary miRNA processing|SMAD protein complex assembly|transforming growth factor beta receptor signaling pathway	cytosol|integral to membrane|nuclear inner membrane	co-SMAD binding|I-SMAD binding|identical protein binding|protein kinase binding|sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	17	all_hematologic(180;0.151)					CCGAATGCCTTAGTGACAGTAG	0.391													A	146474983	-	A	146474982	7	5	713	1	0	1	1	0	0	0	0	0	14851	1741	61	0	1062	0	SMAD1	4	146474982	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	75128316	146474982	44679294	30	54734											
DDX60L	91351	broad.mit.edu	37	chr4	169383094	169383094	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagcatccagaaaactccGtttgcacatcaatgttagta	15	11	6	9	1	1	1	1	0	0	1	3	1	3	1	2	0	3	5	2	0	6	4	rs35627377		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:169383094G>A	ENST00000511577.1	-	5	609	c.362C>T	c.(361-363)aCg>aTg	p.T121M	DDX60L_ENST00000260184.7_Missense_Mutation_p.T121M|DDX60L_ENST00000505890.1_Missense_Mutation_p.T121M			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	121							ATP binding|ATP-dependent helicase activity|RNA binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		AGAAAACTCCGTTTGCACATC	0.378													A	169383094	G	A	169383094	3	1	713	1	0	0	0	0	1	0	0	0	4413	1145	40	1	4894	1	DDX60L	4	169383094	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	22908112	169383094	21771182	31	54735											
WDR17	116966	broad.mit.edu	37	chr4	177067236	177067236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccattgaaagtatttagtggGcatacagcaaaagtgtttca	14	12	9	6	0	1	1	1	1	0	0	1	1	1	1	1	1	2	4	1	1	6	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:177067236G>A	ENST00000393643.2	+	12	1872	c.1620G>A	c.(1618-1620)ggG>ggA	p.G540G	WDR17_ENST00000508596.1_Silent_p.G540G|WDR17_ENST00000507824.2_Silent_p.G547G|WDR17_ENST00000280190.4_Silent_p.G564G	NM_170710.4	NP_733828.2	Q8IZU2	WDR17_HUMAN	WD repeat domain 17	564										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TATTTAGTGGGCATACAGCAA	0.388													A	177067236	G	A	177067236	2	1	713	1	0	0	0	0	0	0	0	1	17379	1190	42	2		2	WDR17	4	177067236	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	7684142	177067236	14087040	32	54736											
TLR3	7098	broad.mit.edu	37	chr4	187004790	187004790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaatccctttgattgcacGtgtgaaagtattgcctggtt	8	17	9	7	1	0	2	0	2	0	0	1	2	1	2	2	1	2	3	2	1	3	7			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr4:187004790G>A	ENST00000296795.3	+	4	2054	c.1950G>A	c.(1948-1950)acG>acA	p.T650T	TLR3_ENST00000504367.1_Silent_p.T373T	NM_003265.2	NP_003256.1	O15455	TLR3_HUMAN	toll-like receptor 3		LRRCT.				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|defense response to bacterium|defense response to virus|detection of virus|hyperosmotic response|I-kappaB phosphorylation|inflammatory response|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of osteoclast differentiation|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-beta production|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-12 production|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus|positive regulation of toll-like receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|toll-like receptor 3 signaling pathway	endoplasmic reticulum membrane|endosome membrane|integral to plasma membrane	double-stranded RNA binding|transmembrane receptor activity			breast(1)|endometrium(5)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		all_cancers(14;4.27e-52)|all_epithelial(14;7.69e-39)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Colorectal(36;0.0066)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.47e-11)|BRCA - Breast invasive adenocarcinoma(30;1.14e-05)|GBM - Glioblastoma multiforme(59;0.000107)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.16)		TTGATTGCACGTGTGAAAGTA	0.443													A	187004790	G	A	187004790	2	1	713	1	0	0	0	0	0	0	0	1	16052	1132	40	1		1	TLR3	4	187004790	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	9937554	187004790	4149486	33	54737											
DHX29	54505	broad.mit.edu	37	chr5	54585244	54585245	+	Frame_Shift_Del	DEL	AA	AA	-																															taaatactggatggtcttctAaagtttccatttctaccaag																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:54585244_54585245delAA	ENST00000251636.5	-	8	1067_1068	c.919_920delTT	c.(919-921)ttafs	p.L307fs	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	307							ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				ATGGTCTTCTAAAGTTTCCATT	0.292													-	54585245	AA	-	54585244	7	5	713	1	0	1	0	1	0	0	0	0	4542	372	13	0	3269	0	DHX29	5	54585244	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WL-01A-21D-A33T-08		54585244	126330016	34	54738											
RAPGEF6	51735	broad.mit.edu	37	chr5	130766860	130766860	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctgtaagagttcaaaaaaTcccagctttttgggtttgga	11	14	10	6	0	2	1	1	0	1	1	3	2	3	2	1	2	1	4	1	2	4	5			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:130766860T>A	ENST00000509018.1	-	26	4362	c.4157A>T	c.(4156-4158)gAt>gTt	p.D1386V	RAPGEF6_ENST00000507093.1_Missense_Mutation_p.D1394V|RAPGEF6_ENST00000307984.5_Missense_Mutation_p.D1399V|CTC-432M15.3_ENST00000514667.1_Missense_Mutation_p.D1436V|RAPGEF6_ENST00000296859.6_Missense_Mutation_p.D1394V	NM_001164386.1|NM_016340.5	NP_001157858.1|NP_057424.3	Q8TEU7	RPGF6_HUMAN	Rap guanine nucleotide exchange factor (GEF) 6	1386	Ser-rich.				Ras protein signal transduction|regulation of GTPase activity|regulation of small GTPase mediated signal transduction	cytoplasm|plasma membrane	GTP-dependent protein binding|guanyl-nucleotide exchange factor activity|Ras GTPase binding			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|skin(1)|stomach(1)	31			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0721)		GTTCAAAAAATCCCAGCTTTT	0.453													A	130766860	T	A	130766860	3	1	713	1	0	0	0	0	1	0	0	0	13136	1435	50	5	660	5	RAPGEF6	5	130766860	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	76181616	130766860	50148400	35	54739											
C5orf24	134553	broad.mit.edu	37	chr5	134190831	134190833	+	In_Frame_Del	DEL	AAG	AAG	-																															taaaagatgaactaaagaaaAagaagaatctcaaccgatct																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:134190831_134190833delAAG	ENST00000394976.3	+	2	469_471	c.241_243delAAG	c.(241-243)aagdel	p.K82del	C5orf24_ENST00000435259.2_In_Frame_Del_p.K82del|C5orf24_ENST00000338051.4_In_Frame_Del_p.K82del|C5orf24_ENST00000504727.1_In_Frame_Del_p.K82del	NM_001135586.1	NP_001129058.1	Q7Z6I8	CE024_HUMAN	chromosome 5 open reading frame 24	82								p.K81N(1)		breast(2)|endometrium(2)|lung(2)	6			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTAAAGAAAAAGAAGAATCTCA	0.478													-	134190833	AAG	-	134190831	7	5	713	1	0	1	0	1	0	0	0	0	2309	15	1	0	243	0	C5orf24	5	134190831	In_Frame_Del	DEL	AAG	TCGA-S9-A6WL-01A-21D-A33T-08	3423971	134190831	46724429	36	54740											
PCDHB12	56124	broad.mit.edu	37	chr5	140590356	140590356	+	Frame_Shift_Del	DEL	C	C	-																															gcacaatggcgaggtgcgcaCcgccaggctgctgagcgagc																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:140590356delC	ENST00000239450.2	+	1	2066	c.1877delC	c.(1876-1878)accfs	p.T626fs	PCDHB12_ENST00000541609.1_Frame_Shift_Del_p.T289fs	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		626	Cadherin 6.				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGTGCGCACCGCCAGGCTG	0.701													-	140590356	C	-	140590356	7	5	713	1	0	1	0	1	0	0	0	0	11613	507	18	0	1879	0	PCDHB12	5	140590356	Frame_Shift_Del	DEL	C	TCGA-S9-A6WL-01A-21D-A33T-08	6399525	140590356	40324904	37	54741											
TBC1D9B	23061	broad.mit.edu	37	chr5	179297323	179297323	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgtccaggagcctgaacatgCgccctgccagcagaggtgtg	8	6	14	13	2	0	2	0	1	0	1	1	3	1	3	4	2	5	1	4	2	1	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr5:179297323C>T	ENST00000356834.3	-	16	2694	c.2657G>A	c.(2656-2658)cGc>cAc	p.R886H	TBC1D9B_ENST00000355235.3_Missense_Mutation_p.R886H|TBC1D9B_ENST00000519746.1_Missense_Mutation_p.R62H|TBC1D9B_ENST00000444477.2_Missense_Mutation_p.R44H	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	886	EF-hand.					integral to membrane|intracellular	calcium ion binding|Rab GTPase activator activity			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTGAACATGCGCCCTGCCAG	0.592													T	179297323	C	T	179297323	3	4	713	1	0	0	0	0	1	0	0	0	15728	768	27	1	1123	1	TBC1D9B	5	179297323	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	38706967	179297323	1617937	38	54742											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234788	26234788	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcttcctaggcttggctgcgCcagcctttttggccttgggt	2	14	13	12	1	0	0	0	0	0	0	1	0	1	0	4	4	2	3	4	4	1	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:26234788C>A	ENST00000244534.5	-	1	428	c.374G>T	c.(373-375)gGc>gTc	p.G125V		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	125					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTTGGCTGCGCCAGCCTTTTT	0.567													A	26234788	C	A	26234788	3	1	713	1	0	0	0	0	1	0	0	0	7180	739	26	4	295	4	HIST1H1D	6	26234788	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		26234788	144880279	39	54743											
RGL2	5863	broad.mit.edu	37	chr6	33266242	33266244	+	In_Frame_Del	DEL	TCC	TCC	-																															cgcgtctcacctcttcttctTcctcctcctcttcctcctgc																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:33266242_33266244delTCC	ENST00000497454.1	-	2	639_641	c.144_146delGGA	c.(142-147)gaggaa>gaa	p.48_49EE>E	RGL2_ENST00000444031.2_Intron|RGL2_ENST00000437840.2_Intron	NM_001243738.1|NM_004761.4	NP_001230667.1|NP_004752.1	O15211	RGL2_HUMAN	ral guanine nucleotide dissociation stimulator-like 2	48					Ras protein signal transduction|regulation of small GTPase mediated signal transduction	intracellular	Ras guanyl-nucleotide exchange factor activity			breast(2)|cervix(2)|endometrium(7)|kidney(2)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	34						ctcttcttcttcctcctcctctt	0.631													-	33266244	TCC	-	33266242	7	5	713	1	0	1	0	1	0	0	0	0	13365	1783	62	0	2255	0	RGL2	6	33266242	In_Frame_Del	DEL	TCC	TCGA-S9-A6WL-01A-21D-A33T-08	7031454	33266242	137848825	40	54744											
ZNF76	7629	broad.mit.edu	37	chr6	35258096	35258097	+	Frame_Shift_Ins	INS	-	-	A																															aagggcagcaagttggagacINSagagcattccgctgtggcta																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr6:35258096_35258097insA	ENST00000373953.3	+	6	752_753	c.486_487insA	c.(487-489)agafs	p.R163fs	ZNF76_ENST00000339411.5_Frame_Shift_Ins_p.R163fs|ZNF76_ENST00000440666.2_Frame_Shift_Ins_p.R137fs	NM_003427.3	NP_003418.2	P36508	ZNF76_HUMAN	zinc finger protein 76	163					regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(1)	16						AAGTTGGAGACAGAGCATTCCG	0.525													A	35258097	-	A	35258096	7	5	713	1	0	1	1	0	0	0	0	0	18235	477	17	0	504	0	ZNF76	6	35258096	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	1991854	35258096	135856971	41	54745											
ABCA13	154664	broad.mit.edu	37	chr7	48315024	48315024	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaactgtgcagaaatttTggcataagatattaccgttt	14	14	8	5	1	0	3	0	1	0	2	0	3	0	3	1	1	3	3	1	1	6	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:48315024T>G	ENST00000435803.1	+	17	5785	c.5761T>G	c.(5761-5763)Tgg>Ggg	p.W1921G		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	1921					transport	integral to membrane	ATP binding|ATPase activity			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						GCAGAAATTTTGGCATAAGAT	0.383													G	48315024	T	G	48315024	3	3	713	1	0	0	0	0	1	0	0	0	31	1812	63	5	5656	5	ABCA13	7	48315024	Missense_Mutation	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08		48315024	110823639	42	54746											
TRIM73	375593	broad.mit.edu	37	chr7	75028510	75028510	+	Frame_Shift_Del	DEL	T	T	-																															ccaccggaacccgctcagccTtttctgcgagaaggaccagg																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:75028510delT	ENST00000323819.3	+	2	493	c.293delT	c.(292-294)cttfs	p.L98fs	TRIM73_ENST00000450434.1_5'UTR|TRIM73_ENST00000447409.2_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000437796.1_Frame_Shift_Del_p.L98fs|TRIM73_ENST00000430211.1_Frame_Shift_Del_p.L98fs	NM_198924.2	NP_944606.2	Q86UV6	TRI74_HUMAN	tripartite motif containing 73	98						intracellular	zinc ion binding			endometrium(1)|large_intestine(1)|lung(1)|pancreas(1)	4						CCGCTCAGCCTTTTCTGCGAG	0.667													-	75028510	T	-	75028510	7	5	713	1	0	1	0	1	0	0	0	0	16647	1609	56	0	295	0	TRIM73	7	75028510	Frame_Shift_Del	DEL	T	TCGA-S9-A6WL-01A-21D-A33T-08	26713486	75028510	84110153	43	54747											
MUC17	140453	broad.mit.edu	37	chr7	100680099	100680099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtaccagcataccaacctCgactcttagtgaaggaatga	14	8	9	10	1	1	2	0	2	1	0	2	4	1	3	3	2	4	2	3	2	6	3	rs147751797		TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:100680099C>T	ENST00000306151.4	+	3	5466	c.5402C>T	c.(5401-5403)tCg>tTg	p.S1801L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1801	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)					ATACCAACCTCGACTCTTAGT	0.507													T	100680099	C	T	100680099	3	4	713	1	0	0	0	0	1	0	0	0	10050	893	31	1	5412	1	MUC17	7	100680099	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	25651589	100680099	58458564	44	54748											
TMEM168	64418	broad.mit.edu	37	chr7	112424079	112424079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcaatcattccagcaaaaaCgactgaaagtcttctgcaaa	16	9	5	11	1	4	1	2	1	2	0	5	2	5	1	1	0	3	2	1	0	5	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:112424079C>T	ENST00000312814.6	-	2	1362	c.802G>A	c.(802-804)Gtt>Att	p.V268I	TMEM168_ENST00000454074.1_Missense_Mutation_p.V268I	NM_022484.4	NP_071929.3	Q9H0V1	TM168_HUMAN	transmembrane protein 168							integral to membrane|transport vesicle				breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|stomach(1)	32						CCAGCAAAAACGACTGAAAGT	0.358													T	112424079	C	T	112424079	3	4	713	1	0	0	0	0	1	0	0	0	16183	536	19	1	1307	1	TMEM168	7	112424079	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	11743980	112424079	46714584	45	54749											
PPP1R3A	5506	broad.mit.edu	37	chr7	113520053	113520053	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttggaacaagtcagtacatAtttcaccatggatttgcttc	11	15	7	8	0	2	0	2	0	0	0	3	2	2	2	1	2	3	2	1	2	4	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:113520053A>G	ENST00000284601.3	-	4	1162	c.1094T>C	c.(1093-1095)aTa>aCa	p.I365T		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	365					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTCAGTACATATTTCACCATG	0.388													G	113520053	A	G	113520053	3	3	713	1	0	0	0	0	1	0	0	0	12453	449	16	3	2278	3	PPP1R3A	7	113520053	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	1095974	113520053	45618610	46	54750											
OR2A12	346525	broad.mit.edu	37	chr7	143792960	143792960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcttttctttggcagcGccattgtcatgtacatggcc	5	14	12	10	1	2	0	1	0	1	0	2	0	2	0	2	4	2	3	2	4	1	5			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:143792960G>A	ENST00000408949.2	+	1	820	c.760G>A	c.(760-762)Gcc>Acc	p.A254T		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	254					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					CTTTGGCAGCGCCATTGTCAT	0.562													A	143792960	G	A	143792960	3	1	713	1	0	0	0	0	1	0	0	0	11051	1087	38	1	762	1	OR2A12	7	143792960	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	30272907	143792960	15345703	47	54751											
SSPO	23145	broad.mit.edu	37	chr7	149474811	149474811	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgggcttccactacCgcacctttgatggccgccac	5	9	10	17	3	0	1	0	1	0	0	2	1	1	1	6	3	1	2	6	3	1	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:149474811C>T	ENST00000378016.2	+	0	610							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTTCCACTACCGCACCTTTGA	0.687													T	149474811	C	T	149474811	1	4	713	0	1	0	0	0	0	0	0	0	15285	652	23	1		1	SSPO	7	149474811	RNA	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	5681851	149474811	9663852	48	54752											
GIMAP4	55303	broad.mit.edu	37	chr7	150269790	150269790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgctgggcctgatccagcGcgtggtgagggagaacaagg	8	7	18	8	2	0	3	0	2	0	1	1	4	1	3	2	4	3	2	2	4	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr7:150269790G>A	ENST00000255945.2	+	3	807	c.632G>A	c.(631-633)cGc>cAc	p.R211H	GIMAP4_ENST00000461940.1_Missense_Mutation_p.R225H|GIMAP4_ENST00000494750.1_3'UTR	NM_018326.2	NP_060796.1	Q9NUV9	GIMA4_HUMAN	GTPase, IMAP family member 4	211							GTP binding			breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(82;0.0179)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CTGATCCAGCGCGTGGTGAGG	0.542													A	150269790	G	A	150269790	3	1	713	1	0	0	0	0	1	0	0	0	6437	1087	38	1	638	1	GIMAP4	7	150269790	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	794979	150269790	8868873	49	54753											
OPRK1	4986	broad.mit.edu	37	chr8	54142359	54142359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtagtcatcatctgggAactgcaaggagcactcaatg	13	8	12	8	0	4	0	3	0	1	0	4	3	4	3	0	3	3	3	0	3	4	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:54142359A>G	ENST00000265572.3	-	4	938	c.641T>C	c.(640-642)tTc>tCc	p.F214S	RP11-162D9.3_ENST00000524425.1_RNA|OPRK1_ENST00000520287.1_Missense_Mutation_p.F214S|OPRK1_ENST00000524278.1_Missense_Mutation_p.F125S	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	214					behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)	ATCATCTGGGAACTGCAAGGA	0.473													G	54142359	A	G	54142359	3	3	713	1	0	0	0	0	1	0	0	0	10961	246	9	3	505	3	OPRK1	8	54142359	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08		54142359	92221663	50	54754											
MSC	9242	broad.mit.edu	37	chr8	72756362	72756362	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggggaccgggtactcccgctGcagcccccgaagctccatct	6	6	12	17	3	1	0	0	0	1	0	3	2	3	1	5	3	4	4	5	3	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr8:72756362G>A	ENST00000325509.4	-	1	341	c.52C>T	c.(52-54)Cag>Tag	p.Q18*	RP11-383H13.1_ENST00000521467.1_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_3'UTR	NM_005098.3	NP_005089.2	O60682	MUSC_HUMAN	musculin	18					transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(2)|large_intestine(4)|lung(13)|pancreas(1)|prostate(4)|skin(2)	26	Breast(64;0.176)		Epithelial(68;0.137)|BRCA - Breast invasive adenocarcinoma(89;0.203)			TACTCCCGCTGCAGCCCCCGA	0.692													A	72756362	G	A	72756362	4	1	713	1	0	0	0	0	0	1	0	0	9944	1328	46	2	576	2	MSC	8	72756362	Nonsense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	18614003	72756362	73607660	51	54755											
TYRP1	7306	broad.mit.edu	37	chr9	12702411	12702414	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															ctcctttttattccaactctAcaaacagtttccgaaacaca																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:12702411_12702414delACAA	ENST00000388918.5	+	5	1183_1186	c.1054_1057delACAA	c.(1054-1059)acaaacfs	p.TN352fs	TYRP1_ENST00000381136.2_Frame_Shift_Del_p.TN62fs|TYRP1_ENST00000381137.2_Frame_Shift_Del_p.TN62fs|RP11-3L8.3_ENST00000417638.1_RNA	NM_000550.2	NP_000541.1	P17643	TYRP1_HUMAN	tyrosinase-related protein 1	352					melanin biosynthetic process	clathrin-coated endocytic vesicle membrane|endosome membrane|integral to membrane|melanosome membrane	copper ion binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, another compound as one donor, and incorporation of one atom of oxygen|protein heterodimerization activity|protein homodimerization activity	p.N353fs*31(2)		NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|stomach(1)	22		all_cancers(3;3.1e-05)|all_lung(3;1.7e-06)|Lung NSC(3;2.09e-06)|all_epithelial(3;0.000695)|all_hematologic(3;0.0033)|Acute lymphoblastic leukemia(23;0.0744)		GBM - Glioblastoma multiforme(50;9.85e-06)		TTCCAACTCTACAAACAGTTTCCG	0.387									Oculocutaneous Albinism				-	12702414	ACAA	-	12702411	7	5	713	1	0	1	0	1	0	0	0	0	16918	391	14	0	1068	0	TYRP1	9	12702411	Frame_Shift_Del	DEL	ACAA	TCGA-S9-A6WL-01A-21D-A33T-08		12702411	128511020	52	54756											
RRAGA	10670	broad.mit.edu	37	chr9	19050538	19050538	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcaacattcgcaatgcccGgaaacactttgagaagctgg	13	8	10	10	2	1	1	1	1	0	1	2	4	1	2	1	2	4	2	1	2	4	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:19050538G>A	ENST00000380527.1	+	1	1167	c.881G>A	c.(880-882)cGg>cAg	p.R294Q		NM_006570.4	NP_006561.1	Q7L523	RRAGA_HUMAN	Ras-related GTP binding A	294					apoptosis|cellular protein localization|cellular response to amino acid stimulus|positive regulation of cytolysis|positive regulation of TOR signaling cascade|virus-host interaction	Golgi apparatus|lysosome|nucleus	GTP binding|phosphoprotein binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(1)	3						CGCAATGCCCGGAAACACTTT	0.483													A	19050538	G	A	19050538	3	1	713	1	0	0	0	0	1	0	0	0	13763	1116	39	1	883	1	RRAGA	9	19050538	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	6348127	19050538	122162893	53	54757											
ACO1	48	broad.mit.edu	37	chr9	32448928	32448928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggccgagagctacgagcGcattcaccgcagtaacctgg	9	6	12	14	4	1	1	1	0	0	1	1	3	1	1	4	2	4	4	4	2	2	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:32448928G>A	ENST00000309951.6	+	20	2543	c.2405G>A	c.(2404-2406)cGc>cAc	p.R802H	ACO1_ENST00000541043.1_Missense_Mutation_p.R703H|ACO1_ENST00000379923.1_Missense_Mutation_p.R802H	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AGCTACGAGCGCATTCACCGC	0.483													A	32448928	G	A	32448928	3	1	713	1	0	0	0	0	1	0	0	0	146	1087	38	1	2479	1	ACO1	9	32448928	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	13398390	32448928	108764503	54	54758											
VCP	7415	broad.mit.edu	37	chr9	35060873	35060873	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggttacctgtggcacctcTaccacggtttcccgcagtgc	6	10	10	15	2	1	0	0	0	1	0	2	0	2	0	4	3	3	4	4	3	2	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:35060873T>G	ENST00000358901.6	-	12	2302	c.1407A>C	c.(1405-1407)gtA>gtC	p.V469V		NM_007126.3	NP_009057.1	P55072	TERA_HUMAN	valosin containing protein	469					activation of caspase activity|double-strand break repair|endoplasmic reticulum unfolded protein response|ER-associated protein catabolic process|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|retrograde protein transport, ER to cytosol	cytosol|endoplasmic reticulum|microsome|nucleus|proteasome complex	ATP binding|ATPase activity|lipid binding|polyubiquitin binding|protein domain specific binding|protein phosphatase binding			breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	24			LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)			GTGGCACCTCTACCACGGTTT	0.562													G	35060873	T	G	35060873	2	3	713	1	0	0	0	0	0	0	0	1	17242	1509	53	5		5	VCP	9	35060873	Silent	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2611945	35060873	106152558	55	54759											
ABCA1	19	broad.mit.edu	37	chr9	107547732	107547732	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctatgtggagtcgctttttgCtctgggagaggatgctgaat	7	14	14	6	1	1	2	0	1	1	1	2	5	1	4	0	3	2	3	0	3	2	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:107547732C>A	ENST00000374736.3	-	49	6984	c.6590G>T	c.(6589-6591)aGc>aTc	p.S2197I		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	2197					Cdc42 protein signal transduction|cellular lipid metabolic process|cholesterol efflux|cholesterol homeostasis|cholesterol metabolic process|endosome transport|G-protein coupled receptor protein signaling pathway|high-density lipoprotein particle assembly|interleukin-1 beta secretion|intracellular cholesterol transport|lysosome organization|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|phospholipid efflux|phospholipid homeostasis|platelet dense granule organization|positive regulation of cAMP biosynthetic process|reverse cholesterol transport	integral to plasma membrane|membrane fraction|membrane raft|phagocytic vesicle	anion transmembrane transporter activity|apolipoprotein A-I receptor activity|ATP binding|ATPase activity|cholesterol transporter activity|phospholipid transporter activity|small GTPase binding|syntaxin-13 binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glibenclamide(DB01016)	TCGCTTTTTGCTCTGGGAGAG	0.433													A	107547732	C	A	107547732	3	1	713	1	0	0	0	0	1	0	0	0	28	797	28	4	203	4	ABCA1	9	107547732	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	72486859	107547732	33665699	56	54760											
SLC34A3	142680	broad.mit.edu	37	chr9	140130623	140130623	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tggagctggccgctgtcgggGgtcccctggtggggctggtg	1	9	21	10	2	0	0	0	0	0	0	2	1	1	1	3	8	1	3	3	8	0	0			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140130623G>A	ENST00000538474.1	+	13	1779	c.1555G>A	c.(1555-1557)Ggt>Agt	p.G519S	SLC34A3_ENST00000361134.2_Missense_Mutation_p.G519S	NM_001177316.1|NM_001177317.1	NP_001170787|NP_001170788	Q8N130	NPT2C_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 3	519					cellular phosphate ion homeostasis	apical plasma membrane|integral to membrane	sodium-dependent phosphate transmembrane transporter activity|sodium:phosphate symporter activity			kidney(3)|lung(6)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		CGCTGTCGGGGGTCCCCTGGT	0.726											OREG0019630	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140130623	G	A	140130623	3	1	713	1	0	0	0	0	1	0	0	0	14663	1232	43	2	1601	2	SLC34A3	9	140130623	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	32582891	140130623	1082808	57	54761											
PNPLA7	375775	broad.mit.edu	37	chr9	140356488	140356488	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgcccgtgctggtagccCacttcctgtgcacaccccca	5	8	10	18	2	0	0	0	0	0	0	1	0	1	0	5	1	4	3	5	1	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr9:140356488C>T	ENST00000406427.1	-	32	3987	c.3651G>A	c.(3649-3651)gtG>gtA	p.V1217V	PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.V798V|PNPLA7_ENST00000277531.4_Silent_p.V1192V	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	1192					lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		GCTGGTAGCCCACTTCCTGTG	0.677													T	140356488	C	T	140356488	2	4	713	1	0	0	0	0	0	0	0	1	12247	581	21	2		2	PNPLA7	9	140356488	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	225865	140356488	856943	58	54762											
MRC1	4360	broad.mit.edu	37	chr10	17949595	17949595	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccggtctcctttgtcaactGgaacacaggagatccctctg	8	11	9	13	1	3	1	1	0	2	1	6	3	5	2	3	3	2	0	3	3	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:17949595G>A	ENST00000331429.2	+	28	4062	c.3959G>A	c.(3958-3960)tGg>tAg	p.W1320*																	breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TTTGTCAACTGGAACACAGGA	0.393													A	17949595	G	A	17949595	4	1	713	1	0	0	0	0	0	1	0	0	9832	1357	47	2	4069	2	MRC1	10	17949595	Nonsense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		17949595	117585152	59	54763											
RET	5979	broad.mit.edu	37	chr10	43622039	43622039	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggactacttggaccttgCggcgtccactccatctgact	7	10	9	15	2	1	1	0	1	1	0	3	3	3	3	4	3	2	0	4	3	1	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:43622039C>T	ENST00000355710.3	+	19	3288	c.3056C>T	c.(3055-3057)gCg>gTg	p.A1019V	RET_ENST00000340058.5_Missense_Mutation_p.A1019V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	1019					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	TTGGACCTTGCGGCGTCCACT	0.557		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				T	43622039	C	T	43622039	3	4	713	1	0	0	0	0	1	0	0	0	13323	768	27	1	3130	1	RET	10	43622039	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	25672444	43622039	91912708	60	54764											
MINPP1	9562	broad.mit.edu	37	chr10	89311947	89311947	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacaaggaacccctaacagcGtacaattacaaaaaacaaat	21	5	5	10	1	0	0	0	0	0	0	0	2	0	1	2	1	6	1	2	1	10	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:89311947G>A	ENST00000371996.4	+	5	1217	c.1176G>A	c.(1174-1176)gcG>gcA	p.A392A	MINPP1_ENST00000472891.1_3'UTR|MINPP1_ENST00000371994.4_3'UTR|MINPP1_ENST00000536010.1_Silent_p.A191A	NM_004897.4	NP_004888.2	Q9UNW1	MINP1_HUMAN	multiple inositol-polyphosphate phosphatase 1	392					bone mineralization|polyphosphate metabolic process	endoplasmic reticulum lumen	acid phosphatase activity|bisphosphoglycerate 3-phosphatase activity|multiple inositol-polyphosphate phosphatase activity|phosphohistidine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|urinary_tract(2)	5		Colorectal(252;0.122)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00123)		CCCTAACAGCGTACAATTACA	0.428													A	89311947	G	A	89311947	2	1	713	1	0	0	0	0	0	0	0	1	9663	1132	40	1		1	MINPP1	10	89311947	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	45689908	89311947	46222800	61	54765											
INPP5A	3632	broad.mit.edu	37	chr10	134523946	134523946	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccggcacaaggcactgggCtacgtgctggacaggtaggt	9	7	15	10	2	0	0	0	0	0	0	1	1	1	1	1	6	2	5	1	6	3	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr10:134523946C>T	ENST00000368594.3	+	8	910	c.633C>T	c.(631-633)ggC>ggT	p.G211G	INPP5A_ENST00000487614.1_3'UTR|INPP5A_ENST00000368593.3_Silent_p.G211G	NM_005539.3	NP_005530.3	Q14642	I5P1_HUMAN	inositol polyphosphate-5-phosphatase, 40kDa	211					cell communication	membrane	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|PH domain binding			cervix(1)|kidney(1)|large_intestine(2)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	15		all_cancers(35;8.59e-13)|all_epithelial(44;5.49e-09)|Lung NSC(174;0.000854)|all_lung(145;0.00146)|all_neural(114;0.0299)|Colorectal(31;0.0599)|Breast(234;0.0849)|Melanoma(40;0.124)|all_hematologic(284;0.196)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;0.000102)|Epithelial(32;0.00023)|all cancers(32;0.000326)		AGGCACTGGGCTACGTGCtgg	0.597													T	134523946	C	T	134523946	2	4	713	1	0	0	0	0	0	0	0	1	7812	784	28	2		2	INPP5A	10	134523946	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	45211999	134523946	1010801	62	54766											
RPS3	6188	broad.mit.edu	37	chr11	75115087	75115089	+	In_Frame_Del	DEL	TCA	TCA	-																															ctgctatggtgtgctgcggtTcatcatggagagtggggcca																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:75115087_75115089delTCA	ENST00000531188.1	+	5	436_438	c.374_376delTCA	c.(373-378)ttcatc>ttc	p.I126del	RPS3_ENST00000524851.1_In_Frame_Del_p.I126del|RPS3_ENST00000278572.6_In_Frame_Del_p.I142del|RPS3_ENST00000527446.1_In_Frame_Del_p.I126del|RPS3_ENST00000534440.1_Intron|RPS3_ENST00000526608.1_In_Frame_Del_p.I114del|RPS3_ENST00000529285.1_Intron	NM_001005.4|NM_001260506.1|NM_001260507.1	NP_000996.2|NP_001247435.1|NP_001247436.1	P23396	RS3_HUMAN	ribosomal protein S3	126					activation of caspase activity|endocrine pancreas development|induction of apoptosis|negative regulation of DNA repair|negative regulation of NF-kappaB transcription factor activity|response to DNA damage stimulus|translational elongation|translational initiation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleus|ruffle membrane	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|iron-sulfur cluster binding|mRNA binding|NF-kappaB binding|protein kinase binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	6						GTGCTGCGGTTCATCATGGAGAG	0.488													-	75115089	TCA	-	75115087	7	5	713	1	0	1	0	1	0	0	0	0	13734	1783	62	0	392	0	RPS3	11	75115087	In_Frame_Del	DEL	TCA	TCGA-S9-A6WL-01A-21D-A33T-08		75115087	59891429	63	54767											
RSF1	51773	broad.mit.edu	37	chr11	77413493	77413493	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtagaacggttttctaaatCcataggctgctcctcacttt	9	15	7	10	1	2	1	1	0	1	1	4	1	4	1	2	2	2	4	2	2	5	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:77413493C>T	ENST00000308488.6	-	6	1083	c.781G>A	c.(781-783)Gat>Aat	p.D261N	RSF1_ENST00000360355.2_Missense_Mutation_p.D230N|RSF1_ENST00000480887.1_Missense_Mutation_p.D9N			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	261	Glu-rich.				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			TTTTCTAAATCCATAGGCTGC	0.338													T	77413493	C	T	77413493	3	4	713	1	0	0	0	0	1	0	0	0	13790	855	30	2	3588	2	RSF1	11	77413493	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	2298406	77413493	57593023	64	54768											
GRM5	2915	broad.mit.edu	37	chr11	88386475	88386475	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttcagataataatcatcaaaCcacttgacatcgggagattg	15	11	7	8	1	3	3	3	1	0	2	4	4	3	3	1	1	1	0	1	1	3	5			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr11:88386475C>G	ENST00000418177.2	-	4	1375	c.1008G>C	c.(1006-1008)tgG>tgC	p.W336C	GRM5_ENST00000305447.4_Missense_Mutation_p.W336C|GRM5_ENST00000455756.2_Missense_Mutation_p.W336C|GRM5_ENST00000393297.1_Missense_Mutation_p.W336C|GRM5_ENST00000305432.5_Missense_Mutation_p.W336C			P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	336					activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)	AATCATCAAACCACTTGACAT	0.478													G	88386475	C	G	88386475	3	3	713	1	0	0	0	0	1	0	0	0	6855	508	18	4	2658	4	GRM5	11	88386475	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10972982	88386475	46620041	65	54769											
KRT71	112802	broad.mit.edu	37	chr12	52946639	52946639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagcaaagccactggcccGgccccggccaaatccatagc	10	4	9	18	2	0	0	0	0	0	0	2	0	2	0	7	3	3	1	7	3	3	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:52946639G>A	ENST00000267119.5	-	1	292	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W		NM_033448.2	NP_258259.1	Q3SY84	K2C71_HUMAN	keratin 71	75	Gly-rich.|Head.						structural molecule activity			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	22				BRCA - Breast invasive adenocarcinoma(357;0.194)		CCACTGGCCCGGCCCCGGCCA	0.642													A	52946639	G	A	52946639	3	1	713	1	0	0	0	0	1	0	0	0	8542	1115	39	1	1384	1	KRT71	12	52946639	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		52946639	80905256	66	54770											
ANAPC5	51433	broad.mit.edu	37	chr12	121775117	121775117	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcagcaaaatcaggattaaAtttcaacaaattgtttaatt	17	15	4	5	0	3	0	3	0	0	0	3	1	3	1	0	1	2	2	0	1	7	7			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:121775117A>T	ENST00000261819.3	-	6	857	c.736T>A	c.(736-738)Ttt>Att	p.F246I	ANAPC5_ENST00000344395.4_Missense_Mutation_p.F147I|ANAPC5_ENST00000441917.2_Missense_Mutation_p.F147I|ANAPC5_ENST00000541887.1_Missense_Mutation_p.F246I|ANAPC5_ENST00000536366.1_Missense_Mutation_p.F125I	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	246					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TCAGGATTAAATTTCAACAAA	0.358													T	121775117	A	T	121775117	3	4	713	1	0	0	0	0	1	0	0	0	605	101	4	5	1579	5	ANAPC5	12	121775117	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	68828478	121775117	12076778	67	54771											
ARL6IP4	51329	broad.mit.edu	37	chr12	123466320	123466322	+	In_Frame_Del	DEL	GAA	GAA	-																															aagaagaagaggaagaagctGaagaagaagggcaaggagaa																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr12:123466320_123466322delGAA	ENST00000315580.5	+	3	1060_1062	c.732_734delGAA	c.(730-735)ctgaag>ctg	p.K247del	ARL6IP4_ENST00000392435.2_In_Frame_Del_p.K228del|ARL6IP4_ENST00000357866.4_In_Frame_Del_p.K116del|RP11-197N18.2_ENST00000540866.2_RNA|ARL6IP4_ENST00000412505.2_In_Frame_Del_p.K105del|ARL6IP4_ENST00000454885.2_In_Frame_Del_p.K113del|ARL6IP4_ENST00000426960.2_In_Frame_Del_p.K105del|ARL6IP4_ENST00000453766.2_In_Frame_Del_p.K239del|ARL6IP4_ENST00000543566.1_In_Frame_Del_p.K228del|ARL6IP4_ENST00000439686.2_In_Frame_Del_p.K116del			Q66PJ3	AR6P4_HUMAN	ADP-ribosylation-like factor 6 interacting protein 4	247	Lys-rich.				RNA splicing	nucleus						all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.11e-05)|Epithelial(86;0.000127)|BRCA - Breast invasive adenocarcinoma(302;0.107)		ggaagaagctgaagaagaagggc	0.596													-	123466322	GAA	-	123466320	7	5	713	1	0	1	0	1	0	0	0	0	948	1277	45	0	742	0	ARL6IP4	12	123466320	In_Frame_Del	DEL	GAA	TCGA-S9-A6WL-01A-21D-A33T-08	1691203	123466320	10385575	68	54772											
KBTBD7	84078	broad.mit.edu	37	chr13	41768288	41768288	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcctttaactcctctggacCcgtgaaaaaggccgaaaccg	11	8	9	13	3	1	1	0	1	1	0	3	3	3	2	5	2	2	0	5	2	4	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr13:41768288C>T	ENST00000379483.3	-	1	414	c.106G>A	c.(106-108)Ggt>Agt	p.G36S		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	36							protein binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		TCCTCTGGACCCGTGAAAAAG	0.637													T	41768288	C	T	41768288	3	4	713	1	0	0	0	0	1	0	0	0	8056	623	22	2	1952	2	KBTBD7	13	41768288	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		41768288	73401590	69	54773											
KIF26A	26153	broad.mit.edu	37	chr14	104633229	104633231	+	In_Frame_Del	DEL	GAA	GAA	-																															ctcagcctggcctccaagagGaagaagccccacccgccacc																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr14:104633229_104633231delGAA	ENST00000315264.7	+	4	918_920	c.540_542delGAA	c.(538-543)aggaag>agg	p.K182del	KIF26A_ENST00000423312.2_In_Frame_Del_p.K321del			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	321					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCTCCAAGAGGAAGAAGCCCCAC	0.704													-	104633231	GAA	-	104633229	7	5	713	1	0	1	0	1	0	0	0	0	8352	1165	41	0	975	0	KIF26A	14	104633229	In_Frame_Del	DEL	GAA	TCGA-S9-A6WL-01A-21D-A33T-08		104633229	2716311	70	54774											
SEMA6D	80031	broad.mit.edu	37	chr15	48053942	48053943	+	Frame_Shift_Del	DEL	TT	TT	-																															gacaaaccaatgttgccctcTttgctggtaagatcctttag																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:48053942_48053943delTT	ENST00000316364.5	+	7	971_972	c.532_533delTT	c.(532-534)tttfs	p.F178fs	SEMA6D_ENST00000389432.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000537942.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558816.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000358066.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389433.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000558014.1_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000355997.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389428.3_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000354744.4_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000536845.2_Frame_Shift_Del_p.F178fs|SEMA6D_ENST00000389425.3_Frame_Shift_Del_p.F178fs	NM_153618.1	NP_705871.1	Q8NFY4	SEM6D_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6D	178	Sema.				axon guidance	cytoplasm|integral to membrane|plasma membrane	receptor activity			biliary_tract(1)|breast(4)|endometrium(4)|kidney(5)|large_intestine(10)|lung(42)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	77		all_lung(180;0.000635)|Myeloproliferative disorder(241;0.116)|Melanoma(134;0.18)		all cancers(107;1.2e-11)|GBM - Glioblastoma multiforme(94;1.2e-06)		TGTTGCCCTCTTTGCTGGTAAG	0.356													-	48053943	TT	-	48053942	7	5	713	1	0	1	0	1	0	0	0	0	14135	1609	56	0	554	0	SEMA6D	15	48053942	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WL-01A-21D-A33T-08		48053942	54477450	71	54775											
DMXL2	23312	broad.mit.edu	37	chr15	51772904	51772906	+	In_Frame_Del	DEL	TCT	TCT	-																															tgctctcgtttggcctgcaaTcttcttctttctatttgatg																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:51772904_51772906delTCT	ENST00000251076.5	-	24	6684_6686	c.6397_6399delAGA	c.(6397-6399)agadel	p.R2133del	DMXL2_ENST00000543779.2_In_Frame_Del_p.R2133del|DMXL2_ENST00000449909.3_In_Frame_Del_p.R1497del|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	2133						cell junction|synaptic vesicle membrane	Rab GTPase binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TGGCCTGCAATCTTCTTCTTTCT	0.433													-	51772906	TCT	-	51772904	7	5	713	1	0	1	0	1	0	0	0	0	4634	1432	50	0	2794	0	DMXL2	15	51772904	In_Frame_Del	DEL	TCT	TCGA-S9-A6WL-01A-21D-A33T-08	3718962	51772904	50758488	72	54776											
TLN2	83660	broad.mit.edu	37	chr15	63009793	63009793	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggttgcagccaagcaggccGcagcggcagccacacagacc	11	2	13	15	2	0	1	0	0	0	1	0	1	0	1	4	3	5	5	4	3	1	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:63009793G>A	ENST00000561311.1	+	23	3012	c.2782G>A	c.(2782-2784)Gca>Aca	p.A928T	TLN2_ENST00000306829.6_Missense_Mutation_p.A928T			Q9Y4G6	TLN2_HUMAN	talin 2	928	Ala-rich.				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						CAAGCAGGCCGCAGCGGCAGC	0.557													A	63009793	G	A	63009793	3	1	713	1	0	0	0	0	1	0	0	0	16048	1087	38	1	2864	1	TLN2	15	63009793	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	11236889	63009793	39521599	73	54777											
KBTBD13	390594	broad.mit.edu	37	chr15	65369306	65369306	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcagaggtgcgcctgggCgttctgagcgcgggaggttt	5	8	19	9	4	1	2	0	1	1	1	1	3	1	3	1	4	3	4	1	4	0	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:65369306C>T	ENST00000432196.2	+	1	153	c.153C>T	c.(151-153)ggC>ggT	p.G51G		NM_001101362.2	NP_001094832.1	C9JR72	KBTBD_HUMAN	kelch repeat and BTB (POZ) domain containing 13	51	BTB.					cytoplasm				lung(1)|prostate(1)|skin(1)	3						TGCGCCTGGGCGTTCTGAGCG	0.736													T	65369306	C	T	65369306	2	4	713	1	0	0	0	0	0	0	0	1	8050	755	27	1		1	KBTBD13	15	65369306	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	2359513	65369306	37162086	74	54778											
DNAJA4	55466	broad.mit.edu	37	chr15	78566734	78566736	+	In_Frame_Del	DEL	AGA	AGA	-																															cggggccaaggtgatccgtgAgaagaagattatcgaggtac																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr15:78566734_78566736delAGA	ENST00000394855.3	+	5	929_931	c.701_703delAGA	c.(700-705)gagaag>gag	p.K236del	DNAJA4_ENST00000343789.3_In_Frame_Del_p.K207del|DNAJA4_ENST00000394852.3_In_Frame_Del_p.K207del|DNAJA4_ENST00000446172.2_In_Frame_Del_p.K180del	NM_018602.3	NP_061072.3	Q8WW22	DNJA4_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 4	207					protein folding|response to heat	membrane	ATP binding|heat shock protein binding|metal ion binding|unfolded protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(1)|skin(1)	8						GTGATCCGTGAGAAGAAGATTAT	0.576													-	78566736	AGA	-	78566734	7	5	713	1	0	1	0	1	0	0	0	0	4653	304	11	0	774	0	DNAJA4	15	78566734	In_Frame_Del	DEL	AGA	TCGA-S9-A6WL-01A-21D-A33T-08	13197428	78566734	23964658	75	54779											
ZKSCAN2	342357	broad.mit.edu	37	chr16	25268072	25268075	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															gctgtcttagtcttccagtcTctttctccaaatgcactacc																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:25268072_25268075delTCTT	ENST00000328086.7	-	1	1177_1180	c.374_377delAAGA	c.(373-378)aaagagfs	p.KE125fs		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	125	SCAN box.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		TCTTCCAGTCTCTTTCTCCAAATG	0.475													-	25268075	TCTT	-	25268072	7	5	713	1	0	1	0	1	0	0	0	0	17788	1551	54	0	2554	0	ZKSCAN2	16	25268072	Frame_Shift_Del	DEL	TCTT	TCGA-S9-A6WL-01A-21D-A33T-08		25268072	65086681	76	54780											
MMP15	4324	broad.mit.edu	37	chr16	58077146	58077146	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctttcgagaagcgaacCtggagcccggctacccacag	9	6	12	14	3	1	1	0	0	1	1	2	4	1	2	3	3	4	2	3	3	3	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:58077146C>G	ENST00000219271.3	+	8	2121	c.1336C>G	c.(1336-1338)Ctg>Gtg	p.L446V		NM_002428.2	NP_002419.1	P51511	MMP15_HUMAN	matrix metallopeptidase 15 (membrane-inserted)	446	Hemopexin-like 2.				protein modification process|proteolysis	extracellular matrix|integral to plasma membrane	calcium ion binding|enzyme activator activity|metalloendopeptidase activity|protein binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	18						AGAAGCGAACCTGGAGCCCGG	0.632													G	58077146	C	G	58077146	3	3	713	1	0	0	0	0	1	0	0	0	9729	680	24	4	1366	4	MMP15	16	58077146	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	32809074	58077146	32277607	77	54781											
CNTNAP4	85445	broad.mit.edu	37	chr16	76461496	76461499	+	Splice_Site	DEL	AGTA	AGTA	-																															aagtgttcggatgtgcatacAgtaagtgtttgtttatccaa																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr16:76461496_76461499delAGTA	ENST00000307431.8	+	5	920	c.535delAGTA	c.(535-537)agt>gt	p.S180fs	CNTNAP4_ENST00000476707.1_Splice_Site_p.S184fs|CNTNAP4_ENST00000469589.1_3'UTR|CNTNAP4_ENST00000377504.4_Splice_Site_p.S180fs|CNTNAP4_ENST00000478060.1_Splice_Site_p.S156fs	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	181					cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						ATGTGCATACAGTAAGTGTTTGTT	0.392													-	76461499	AGTA	-	76461496	8	5	713	1	0	1	0	1	0	0	1	0	3680	202	7	0	565	0	CNTNAP4	16	76461496	Splice_Site	DEL	AGTA	TCGA-S9-A6WL-01A-21D-A33T-08	18384350	76461496	13893257	78	54782											
OR1A2	26189	broad.mit.edu	37	chr17	3101421	3101421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagatgatgtacctaggggtCggcgttttctctttgccatt	7	15	11	8	2	1	2	0	1	1	1	3	2	1	2	2	3	2	2	2	3	3	6	rs150553361	byFrequency	TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:3101421C>T	ENST00000381951.1	+	1	609	c.609C>T	c.(607-609)gtC>gtT	p.V203V		NM_012352.1	NP_036484.1	Q9Y585	OR1A2_HUMAN	olfactory receptor, family 1, subfamily A, member 2	203					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(2)|lung(5)|skin(4)|stomach(2)	18						ACCTAGGGGTCGGCGTTTTCT	0.433													T	3101421	C	T	3101421	2	4	713	1	0	0	0	0	0	0	0	1	11026	871	31	1		1	OR1A2	17	3101421	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		3101421	78093789	79	54783											
SLC47A2	146802	broad.mit.edu	37	chr17	19583320	19583322	+	In_Frame_Del	DEL	CTG	CTG	-																															gttgcagtgctctctgctctCtgctgctgctgccggcctga																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:19583320_19583322delCTG	ENST00000350657.5	-	17	1639_1641	c.1465_1467delCAG	c.(1465-1467)cagdel	p.Q489del	SLC47A2_ENST00000325411.5_In_Frame_Del_p.Q511del|SLC47A2_ENST00000463318.1_5'UTR	NM_001099646.1|NM_001256663.1	NP_001093116.1|NP_001243592.1	Q86VL8	S47A2_HUMAN	solute carrier family 47 (multidrug and toxin extrusion), member 2	511						integral to membrane|plasma membrane	drug:hydrogen antiporter activity			endometrium(2)|kidney(3)|large_intestine(2)|lung(1)|ovary(1)	9	all_cancers(12;2.3e-05)|all_epithelial(12;0.0024)|Breast(13;0.245)					TCTCTGCTCTCTGCTGCTGCTGC	0.502													-	19583322	CTG	-	19583320	7	5	713	1	0	1	0	1	0	0	0	0	14742	912	32	0	283	0	SLC47A2	17	19583320	In_Frame_Del	DEL	CTG	TCGA-S9-A6WL-01A-21D-A33T-08	16481899	19583320	61611890	80	54784											
DNAJC7	7266	broad.mit.edu	37	chr17	40133976	40133978	+	In_Frame_Del	DEL	CTT	CTT	-																															gcctctccaacttccttgaaCttcttctcctcctccttctg																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:40133976_40133978delCTT	ENST00000457167.4	-	12	1515_1517	c.1279_1281delAAG	c.(1279-1281)aagdel	p.K427del	DNAJC7_ENST00000316603.7_In_Frame_Del_p.K371del|DNAJC7_ENST00000426588.3_In_Frame_Del_p.K371del	NM_003315.3	NP_003306.3	Q99615	DNJC7_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 7	427	J.				chaperone cofactor-dependent protein refolding	cytoplasm|cytoskeleton|nucleus	heat shock protein binding|unfolded protein binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)	9		all_cancers(22;0.00273)|Breast(137;0.00104)|all_epithelial(22;0.0305)				CTTCCTTGAACTTCTTCTCCTCC	0.458													-	40133978	CTT	-	40133976	7	5	713	1	0	1	0	1	0	0	0	0	4693	564	20	0	215	0	DNAJC7	17	40133976	In_Frame_Del	DEL	CTT	TCGA-S9-A6WL-01A-21D-A33T-08	20550656	40133976	41061234	81	54785											
MTMR4	9110	broad.mit.edu	37	chr17	56569912	56569913	+	Frame_Shift_Del	DEL	CA	CA	-																															ggccaaccagaattcacagtCacagttatagcagtgtgatg																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:56569912_56569913delCA	ENST00000323456.5	-	18	3493_3494	c.3369_3370delTG	c.(3367-3372)tgtgacfs	p.CD1123fs	MTMR4_ENST00000579925.1_Frame_Shift_Del_p.CD1066fs	NM_004687.4	NP_004678.3	Q9NYA4	MTMR4_HUMAN	myotubularin related protein 4	1123						cytoplasm|membrane	metal ion binding|protein tyrosine phosphatase activity			breast(10)|endometrium(2)|kidney(2)|large_intestine(5)|lung(12)|skin(5)	36	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AATTCACAGTCACAGTTATAGC	0.46													-	56569913	CA	-	56569912	7	5	713	1	0	1	0	1	0	0	0	0	10022	826	29	0	225	0	MTMR4	17	56569912	Frame_Shift_Del	DEL	CA	TCGA-S9-A6WL-01A-21D-A33T-08	16435936	56569912	24625298	82	54786											
TEX2	55852	broad.mit.edu	37	chr17	62238162	62238164	+	Splice_Site	DEL	CTT	CTT	-																															ttcatatatagccccttaccCttctttgccaatttctccaa																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr17:62238162_62238164delCTT	ENST00000258991.3	-	8	2906_2908	c.2822_2824delAAG	c.(2821-2826)gaaggt>ggt	p.E941del	TEX2_ENST00000583097.1_Splice_Site_p.E934del|TEX2_ENST00000584379.1_Splice_Site_p.E934del			Q8IWB9	TEX2_HUMAN	testis expressed 2	934					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		GCCCCTTACCCTTCTTTGCCAAT	0.458													-	62238164	CTT	-	62238162	8	5	713	1	0	1	0	1	0	0	1	0	15881	695	24	0	600	0	TEX2	17	62238162	Splice_Site	DEL	CTT	TCGA-S9-A6WL-01A-21D-A33T-08	5668250	62238162	18957048	83	54787											
UPF1	5976	broad.mit.edu	37	chr19	18960909	18960909	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttgtaaatcaccttgtgaggGcaaaatgcaaagaggtgacc	14	9	11	7	0	1	3	1	2	0	1	1	3	1	3	2	2	1	3	2	2	5	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:18960909G>A	ENST00000262803.5	+	4	759	c.487G>A	c.(487-489)Gca>Aca	p.A163T	UPF1_ENST00000599848.1_Missense_Mutation_p.A163T|UPF1_ENST00000600310.1_3'UTR	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	163	Sufficient for interaction with RENT2.				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding	p.A163T(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CCTTGTGAGGGCAAAATGCAA	0.517													A	18960909	G	A	18960909	3	1	713	1	0	0	0	0	1	0	0	0	17105	1203	42	2	501	2	UPF1	19	18960909	Missense_Mutation	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08		18960909	40168074	84	54788											
NCCRP1	342897	broad.mit.edu	37	chr19	39691074	39691074	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacggtcattgctcagcacCacgtggccccccgaacttct	7	8	9	17	3	3	0	2	0	1	0	3	1	3	0	4	2	3	3	4	2	1	2			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:39691074C>A	ENST00000339852.4	+	5	659	c.637C>A	c.(637-639)Cac>Aac	p.H213N		NM_001001414.1	NP_001001414.1	Q6ZVX7	NCRP1_HUMAN	non-specific cytotoxic cell receptor protein 1 homolog (zebrafish)	213	FBA.				protein catabolic process					kidney(1)|large_intestine(2)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	10						TGCTCAGCACCACGTGGCCCC	0.682													A	39691074	C	A	39691074	3	1	713	1	0	0	0	0	1	0	0	0	10289	594	21	4	655	4	NCCRP1	19	39691074	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	20730165	39691074	19437909	85	54789											
SCAF1	58506	broad.mit.edu	37	chr19	50157637	50157637	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcaagatggaagaagcCaacctggcgagccgagcgaa	13	5	12	11	3	2	2	1	0	1	2	2	6	2	3	3	2	4	0	3	2	5	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr19:50157637C>A	ENST00000360565.3	+	8	3472	c.3348C>A	c.(3346-3348)gcC>gcA	p.A1116A		NM_021228.2	NP_067051.2	Q9H7N4	SFR19_HUMAN	SR-related CTD-associated factor 1	1116					mRNA processing|RNA splicing	nucleus	RNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	20		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.196)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00113)|GBM - Glioblastoma multiforme(134;0.0204)		TGGAAGAAGCCAACCTGGCGA	0.597													A	50157637	C	A	50157637	2	1	713	1	0	0	0	0	0	0	0	1	13960	581	21	4		4	SCAF1	19	50157637	Silent	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10466563	50157637	8971346	86	54790											
HAO1	54363	broad.mit.edu	37	chr20	7866234	7866234	+	Frame_Shift_Del	DEL	C	C	-																															gacatcttgaacacctttctCcccctaaccaagtgaaaaga																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:7866234delC	ENST00000378789.3	-	7	1027	c.976delG	c.(976-978)gagfs	p.E326fs		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	326	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity	p.E326*(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						ACACCTTTCTCCCCCTAACCA	0.363													-	7866234	C	-	7866234	7	5	713	1	0	1	0	1	0	0	0	0	7006	864	30	0	144	0	HAO1	20	7866234	Frame_Shift_Del	DEL	C	TCGA-S9-A6WL-01A-21D-A33T-08		7866234	55159286	87	54791											
DSTN	11034	broad.mit.edu	37	chr20	17581431	17581431	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgtcgcattttttatgacAtgaaagttcgtaaatgctcc	11	16	7	7	2	0	2	0	2	0	0	3	2	1	2	1	0	1	4	1	0	5	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:17581431A>C	ENST00000246069.7	+	2	398	c.52A>C	c.(52-54)Atg>Ctg	p.M18L	DSTN_ENST00000474024.1_Start_Codon_SNP_p.M1L	NM_006870.3	NP_006861.1	P60981	DEST_HUMAN	destrin (actin depolymerizing factor)		ADF-H.				actin filament severing|actin polymerization or depolymerization		actin binding			endometrium(1)|large_intestine(5)|lung(8)|skin(1)	15						TTTTTATGACATGAAAGTTCG	0.358													C	17581431	A	C	17581431	3	2	713	1	0	0	0	0	1	0	0	0	4823	217	8	5	58	5	DSTN	20	17581431	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	9715197	17581431	45444089	88	54792											
C20orf26	26074	broad.mit.edu	37	chr20	20056149	20056149	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggctcaactctcataacTgtttttgaccaagtggggaa	11	13	9	8	0	2	1	2	1	1	0	3	2	2	2	1	3	2	2	1	3	5	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:20056149T>C	ENST00000245957.5	+	6	532	c.456T>C	c.(454-456)acT>acC	p.T152T	C20orf26_ENST00000389656.3_5'UTR|C20orf26_ENST00000451767.2_Silent_p.T152T|C20orf26_ENST00000377309.2_5'UTR|C20orf26_ENST00000377306.1_Silent_p.T152T	NM_015585.3	NP_056400.3	Q8NHU2	CT026_HUMAN	chromosome 20 open reading frame 26	152										NS(2)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(42)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	77				READ - Rectum adenocarcinoma(2;0.171)		CTCTCATAACTGTTTTTGACC	0.403													C	20056149	T	C	20056149	2	2	713	1	0	0	0	0	0	0	0	1	2127	1567	55	3		3	C20orf26	20	20056149	Silent	SNP	T	TCGA-S9-A6WL-01A-21D-A33T-08	2474718	20056149	42969371	89	54793											
TPX2	22974	broad.mit.edu	37	chr20	30345320	30345320	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttattcctatgatgccccctCggatttcatcaatttttcat	8	18	4	11	1	3	1	3	1	0	0	5	2	4	2	3	1	1	0	3	1	3	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr20:30345320C>T	ENST00000340513.4	+	3	569	c.41C>T	c.(40-42)tCg>tTg	p.S14L	TPX2_ENST00000300403.6_Missense_Mutation_p.S14L			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	14					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			GATGCCCCCTCGGATTTCATC	0.398													T	30345320	C	T	30345320	3	4	713	1	0	0	0	0	1	0	0	0	16533	893	31	1	43	1	TPX2	20	30345320	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	10289171	30345320	32680200	90	54794											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296758	28296758	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctatagttcatgactgttcCattgatgtcaatgatagtct	10	16	8	7	0	3	3	2	3	1	0	4	3	4	3	1	0	0	3	1	0	4	6			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:28296758C>A	ENST00000284987.5	-	8	2528	c.2407G>T	c.(2407-2409)Gga>Tga	p.G803*	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	803	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						ATGACTGTTCCATTGATGTCA	0.433													A	28296758	C	A	28296758	4	1	713	1	0	0	0	0	0	1	0	0	269	603	21	4	389	4	ADAMTS5	21	28296758	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		28296758	19833137	91	54795											
KRTAP19-2	337969	broad.mit.edu	37	chr21	31859629	31859629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcagccatagcccagtctGcagaagctgccacatccaca	11	5	8	17	1	1	1	0	0	1	1	2	1	2	1	5	0	5	3	5	0	2	1			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:31859629G>A	ENST00000334055.3	-	1	126	c.39C>T	c.(37-39)tgC>tgT	p.C13C		NM_181608.1	NP_853639.1	Q3LHN2	KR192_HUMAN	keratin associated protein 19-2	13						intermediate filament				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)	5						AGCCCAGTCTGCAGAAGCTGC	0.562													A	31859629	G	A	31859629	2	1	713	1	0	0	0	0	0	0	0	1	8587	1311	46	2		2	KRTAP19-2	21	31859629	Silent	SNP	G	TCGA-S9-A6WL-01A-21D-A33T-08	3562871	31859629	16270266	92	54796											
MX2	4600	broad.mit.edu	37	chr21	42773954	42773954	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagcagtatcgaggcaaggAgcttctgggatttgtcaact	12	10	12	7	1	2	0	1	0	1	0	3	3	2	2	0	3	3	4	0	3	4	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chr21:42773954A>G	ENST00000330714.3	+	11	1656	c.1472A>G	c.(1471-1473)gAg>gGg	p.E491G	MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	myxovirus (influenza virus) resistance 2 (mouse)	491					response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CGAGGCAAGGAGCTTCTGGGA	0.433													G	42773954	A	G	42773954	3	3	713	1	0	0	0	0	1	0	0	0	10074	304	11	3	1510	3	MX2	21	42773954	Missense_Mutation	SNP	A	TCGA-S9-A6WL-01A-21D-A33T-08	10914325	42773954	5355941	93	54797											
MAP3K15	389840	broad.mit.edu	37	chrX	19443789	19443789	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagctcccttttcttcccaaCaaactgttcagccggacacc	10	10	5	16	1	2	0	1	0	1	0	4	1	4	1	4	1	4	2	4	1	3	4			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:19443789C>A	ENST00000338883.4	-	9	1298	c.1299G>T	c.(1297-1299)ttG>ttT	p.L433F	MAP3K15_ENST00000469203.2_Missense_Mutation_p.L265F|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_5'UTR	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	433							ATP binding|MAP kinase kinase kinase activity|metal ion binding			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					TTCTTCCCAACAAACTGTTCA	0.413													A	19443789	C	A	19443789	3	1	713	1	0	0	0	0	1	0	0	0	9324	477	17	4	2726	4	MAP3K15	23	19443789	Missense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08		19443789	135826771	94	54798											
BCOR	54880	broad.mit.edu	37	chrX	39932273	39932274	+	Frame_Shift_Ins	INS	-	-	T																															tcggtggggacatctggatgINStaacttggtgctgctagttt																										TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:39932273_39932274insT	ENST00000342274.4	-	4	2687_2688	c.2325_2326insA	c.(2323-2328)ttacatfs	p.H776fs	BCOR_ENST00000378444.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.H776fs|BCOR_ENST00000397354.3_Frame_Shift_Ins_p.H776fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	776					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						ACATCTGGATGTAACTTGGTGC	0.515			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						T	39932274	-	T	39932273	7	5	713	1	0	1	1	0	0	0	0	0	1391	1377	48	0	2989	0	BCOR	23	39932273	Frame_Shift_Ins	INS	-	TCGA-S9-A6WL-01A-21D-A33T-08	20488484	39932273	115338287	95	54799											
ZBTB33	10009	broad.mit.edu	37	chrX	119388487	119388487	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgatccaggcgtaggatCaaaacatctaatggagggtc	14	9	11	7	1	2	1	1	1	1	0	4	3	3	3	1	4	1	1	1	4	5	3			TCGA-S9-A6WL-01A-21D-A33T-08	TCGA-S9-A6WL-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1c235060-b9f0-4db2-8ea1-38063e18e703	13a040b9-10f2-449a-8c8e-0e9e77a33b28	g.chrX:119388487C>A	ENST00000326624.2	+	2	1445	c.1217C>A	c.(1216-1218)tCa>tAa	p.S406*	ZBTB33_ENST00000557385.1_Nonsense_Mutation_p.S406*	NM_006777.3	NP_006768.1	Q86T24	KAISO_HUMAN	zinc finger and BTB domain containing 33	406					intracellular signal transduction|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|nucleolus|plasma membrane	DNA binding|protein binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	26						GGCGTAGGATCAAAACATCTA	0.358													A	119388487	C	A	119388487	4	1	713	1	0	0	0	0	0	1	0	0	17637	838	29	4	1219	4	ZBTB33	23	119388487	Nonsense_Mutation	SNP	C	TCGA-S9-A6WL-01A-21D-A33T-08	79456214	119388487	35882073	96	54800											
HTR6	3362	broad.mit.edu	37	chr1	19992358	19992358	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcgctgtgcgtggtcatcGcgctgacggcggcggccaac	4	6	16	15	8	1	1	1	1	0	0	2	1	1	1	2	4	2	2	2	4	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:19992358G>A	ENST00000289753.1	+	1	579	c.112G>A	c.(112-114)Gcg>Acg	p.A38T		NM_000871.1	NP_000862.1	P50406	5HT6R_HUMAN	5-hydroxytryptamine (serotonin) receptor 6, G protein-coupled	38					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane	histamine receptor activity|protein binding			endometrium(1)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	13		Colorectal(325;0.000147)|Renal(390;0.000469)|all_lung(284;0.00519)|Breast(348;0.00526)|Lung NSC(340;0.00544)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0439)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00462)|BRCA - Breast invasive adenocarcinoma(304;5.81e-05)|Kidney(64;0.00017)|GBM - Glioblastoma multiforme(114;0.00117)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.182)	Granisetron(DB00889)|Ondansetron(DB00904)|Sertindole(DB06144)	CGTGGTCATCGCGCTGACGGC	0.731													A	19992358	G	A	19992358	3	1	714	1	0	0	0	0	1	0	0	0	7509	1087	38	1	114	1	HTR6	1	19992358	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		19992358	229258263	1	54801											
MAP3K6	9064	broad.mit.edu	37	chr1	27682984	27682984	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttccttccccgccaggatttCgcgcagcctgtggggcgcag	4	9	13	15	4	0	0	0	0	0	0	3	1	2	1	5	3	1	2	5	3	0	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:27682984C>T	ENST00000374040.3	-	25	3768	c.3508G>A	c.(3508-3510)Gaa>Aaa	p.E1170K	MAP3K6_ENST00000493901.1_Missense_Mutation_p.E1178K|MAP3K6_ENST00000357582.2_Missense_Mutation_p.E1178K			O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1178					activation of JUN kinase activity		ATP binding|magnesium ion binding|MAP kinase kinase kinase activity			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		GCCAGGATTTCGCGCAGCCTG	0.627													T	27682984	C	T	27682984	3	4	714	1	0	0	0	0	1	0	0	0	9329	893	31	1	350	1	MAP3K6	1	27682984	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	7690626	27682984	221567637	2	54802											
ROR1	4919	broad.mit.edu	37	chr1	64644134	64644134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccacagggccagattgctGgtttcattggcccgccaata	9	9	10	13	1	1	1	1	0	0	1	1	1	1	1	4	3	1	2	4	3	2	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:64644134G>A	ENST00000371079.1	+	9	2785	c.2410G>A	c.(2410-2412)Ggt>Agt	p.G804S	ROR1_ENST00000545203.1_Missense_Mutation_p.G255S	NM_005012.3	NP_005003.2	Q01973	ROR1_HUMAN	receptor tyrosine kinase-like orphan receptor 1	804	Pro-rich.				transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(10)|ovary(6)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	51						CCAGATTGCTGGTTTCATTGG	0.512													A	64644134	G	A	64644134	3	1	714	1	0	0	0	0	1	0	0	0	13617	1348	47	2	2452	2	ROR1	1	64644134	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	36961150	64644134	184606487	3	54803											
EPHX4	253152	broad.mit.edu	37	chr1	92528675	92528675	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctactgtggggagagaatgaCgcattcatggaggttgagat	11	10	15	5	1	1	3	1	2	0	2	1	7	1	5	0	4	1	2	0	4	2	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:92528675C>T	ENST00000370383.4	+	7	1019	c.921C>T	c.(919-921)gaC>gaT	p.D307D		NM_173567.4	NP_775838.3	Q8IUS5	EPHX4_HUMAN	epoxide hydrolase 4	307						integral to membrane	hydrolase activity			central_nervous_system(1)|large_intestine(3)|lung(8)	12						GAGAGAATGACGCATTCATGG	0.418													T	92528675	C	T	92528675	2	4	714	1	0	0	0	0	0	0	0	1	5223	535	19	1		1	EPHX4	1	92528675	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	27884541	92528675	156721946	4	54804											
RYR2	6262	broad.mit.edu	37	chr1	237947385	237947385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggaattagcagagagcGtcctgaattatttccagccc	10	12	9	10	1	1	2	0	1	1	1	3	4	3	3	3	1	3	1	3	1	4	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr1:237947385G>A	ENST00000366574.2	+	90	12690	c.12373G>A	c.(12373-12375)Gtc>Atc	p.V4125I	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.V4109I|RYR2_ENST00000360064.6_Missense_Mutation_p.V4131I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	4125					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	p.V4123I(1)		NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGCAGAGAGCGTCCTGAATTA	0.512													A	237947385	G	A	237947385	3	1	714	1	0	0	0	0	1	0	0	0	13860	1145	40	1	12731	1	RYR2	1	237947385	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	145418710	237947385	11303236	5	54805											
IFT172	26160	broad.mit.edu	37	chr2	27688692	27688692	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggcaacagtagtcacacCttccatcaccatcacctcgg	11	8	7	15	1	3	0	3	0	0	0	5	0	4	0	4	2	1	3	4	2	3	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:27688692C>G	ENST00000260570.3	-	17	1853	c.1750G>C	c.(1750-1752)Ggt>Cgt	p.G584R		NM_015662.1	NP_056477.1	Q9UG01	IF172_HUMAN	intraflagellar transport 172 homolog (Chlamydomonas)	584					cilium assembly	cilium	binding			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(17)|lung(17)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	43	Acute lymphoblastic leukemia(172;0.155)					GTAGTCACACCTTCCATCACC	0.517													G	27688692	C	G	27688692	3	3	714	1	0	0	0	0	1	0	0	0	7615	681	24	4	3627	4	IFT172	2	27688692	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08		27688692	215510681	6	54806											
AAK1	22848	broad.mit.edu	37	chr2	69769714	69769714	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggcgggcaacagcttcacAggtatcacaaaatatctgga	14	7	10	10	1	3	0	2	0	1	0	3	1	3	1	0	4	2	3	0	4	5	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:69769714A>T	ENST00000409085.4	-	5	851	c.475T>A	c.(475-477)Tgt>Agt	p.C159S	AAK1_ENST00000409068.1_Missense_Mutation_p.C159S|AAK1_ENST00000470281.1_5'UTR|AAK1_ENST00000406297.3_Missense_Mutation_p.C159S	NM_014911.3	NP_055726	Q2M2I8	AAK1_HUMAN	AP2 associated kinase 1	159	Protein kinase.					coated pit|mitochondrion|plasma membrane	ATP binding|protein serine/threonine kinase activity			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)	17						ACAGCTTCACAGGTATCACAA	0.493													T	69769714	A	T	69769714	3	4	714	1	0	0	0	0	1	0	0	0	16	188	7	5	2482	5	AAK1	2	69769714	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	42081022	69769714	173429659	7	54807											
DYSF	8291	broad.mit.edu	37	chr2	71709086	71709086	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtggtcaaagaccatgagacGatggggaggaacaggtaagg	14	5	17	5	1	1	2	1	1	0	2	1	6	1	4	1	6	1	1	1	6	3	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:71709086G>A	ENST00000258104.3	+	3	499	c.222G>A	c.(220-222)acG>acA	p.T74T	DYSF_ENST00000394120.2_Silent_p.T75T|DYSF_ENST00000409582.3_Silent_p.T74T|DYSF_ENST00000410041.1_Silent_p.T75T|DYSF_ENST00000409651.1_Silent_p.T75T|DYSF_ENST00000410020.3_Silent_p.T75T|DYSF_ENST00000409762.1_Silent_p.T74T|DYSF_ENST00000413539.2_Silent_p.T74T|DYSF_ENST00000429174.2_Silent_p.T74T|DYSF_ENST00000409744.1_Silent_p.T75T|DYSF_ENST00000409366.1_Silent_p.T75T	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	74	C2 1.					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCATGAGACGATGGGGAGGA	0.552													A	71709086	G	A	71709086	2	1	714	1	0	0	0	0	0	0	0	1	4898	1045	37	1		1	DYSF	2	71709086	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	1939372	71709086	171490287	8	54808											
RNF103	7844	broad.mit.edu	37	chr2	86839366	86839366	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttttctcccagtgaattttgCccaccaagggacttctgtca	8	14	7	12	0	3	1	1	1	2	0	4	2	3	2	3	1	1	0	3	1	2	5			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:86839366C>T	ENST00000237455.4	-	3	1366	c.398G>A	c.(397-399)gGc>gAc	p.G133D	AC015971.2_ENST00000597638.1_RNA|AC015971.2_ENST00000426549.1_RNA|AC015971.2_ENST00000439077.1_RNA|RNF103-CHMP3_ENST00000604011.1_Intron|CHMP3_ENST00000439940.2_Intron|RNF103_ENST00000477307.1_5'UTR|AC015971.2_ENST00000424788.1_RNA	NM_001198951.1|NM_005667.3	NP_001185880.1|NP_005658.1	O00237	RN103_HUMAN	ring finger protein 103	133					central nervous system development|ER-associated protein catabolic process	endoplasmic reticulum membrane|integral to membrane	protein binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(7)|skin(2)	25						GTGAATTTTGCCCACCAAGGG	0.388													T	86839366	C	T	86839366	3	4	714	1	0	0	0	0	1	0	0	0	13514	739	26	2	1667	2	RNF103	2	86839366	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	15130280	86839366	156360007	9	54809											
TTN	7273	broad.mit.edu	37	chr2	179650719	179650719	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggctcagctacctttgcggcGgaaatgcgttccttatatcc	7	12	10	12	3	1	0	1	0	0	0	3	1	3	1	3	3	4	3	3	3	4	5	rs151025677		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:179650719G>A	ENST00000589042.1	-	14	2450	c.2226C>T	c.(2224-2226)tcC>tcT	p.S742S	TTN_ENST00000591111.1_Silent_p.S742S|TTN_ENST00000359218.5_Silent_p.S696S|TTN_ENST00000360870.5_Silent_p.S742S|TTN_ENST00000342992.6_Silent_p.S742S|TTN_ENST00000460472.2_Silent_p.S696S|TTN_ENST00000342175.6_Silent_p.S696S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	742							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.S696S(3)|p.S742S(2)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGCGGCGGAAATGCGTT	0.547													A	179650719	G	A	179650719	2	1	714	1	0	0	0	0	0	0	0	1	16837	1103	39	1		1	TTN	2	179650719	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	92811353	179650719	63548654	10	54810											
ATIC	471	broad.mit.edu	37	chr2	216198162	216198162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccctcacacccatctcagcgGcatatgcaagagcaagaggt	12	6	9	14	1	2	2	2	0	1	2	3	2	2	2	2	2	3	3	2	2	3	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr2:216198162G>A	ENST00000435675.1	+	8	1292	c.901G>A	c.(901-903)Gca>Aca	p.A301T	ATIC_ENST00000236959.9_Missense_Mutation_p.A302T|ATIC_ENST00000540518.1_Missense_Mutation_p.A243T			P31939	PUR9_HUMAN	5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase	302					IMP biosynthetic process|purine base metabolic process	cytosol	IMP cyclohydrolase activity|phosphoribosylaminoimidazolecarboxamide formyltransferase activity|protein homodimerization activity		ATIC/ALK(24)	large_intestine(2)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	8		Renal(323;0.229)		Epithelial(149;2.02e-06)|all cancers(144;0.000316)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.0097)	Tetrahydrofolic acid(DB00116)	CATCTCAGCGGCATATGCAAG	0.403			T	ALK	ALCL								A	216198162	G	A	216198162	3	1	714	1	0	0	0	0	1	0	0	0	1110	1203	42	2	938	2	ATIC	2	216198162	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	36547443	216198162	27001211	11	54811											
JAGN1	84522	broad.mit.edu	37	chr3	9934907	9934907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagcagctctaccgccatgGcaaggcctaccgtttcctct	8	9	8	16	2	2	0	0	0	2	0	3	0	3	0	5	2	4	4	5	2	3	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:9934907G>A	ENST00000307768.4	+	2	567	c.398G>A	c.(397-399)gGc>gAc	p.G133D		NM_032492.3	NP_115881.3	Q8N5M9	JAGN1_HUMAN	jagunal homolog 1 (Drosophila)	133						endoplasmic reticulum membrane|integral to membrane				breast(1)|central_nervous_system(1)|endometrium(4)|lung(3)|ovary(1)	10	Medulloblastoma(99;0.227)					TACCGCCATGGCAAGGCCTAC	0.527													A	9934907	G	A	9934907	3	1	714	1	0	0	0	0	1	0	0	0	7994	1203	42	2	404	2	JAGN1	3	9934907	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		9934907	188087523	12	54812											
LRRFIP2	9209	broad.mit.edu	37	chr3	37107434	37107434	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attataactaagccatgtttCtgcaggggggaaaaacccac	14	9	9	9	0	1	0	0	0	1	0	1	1	1	1	2	3	4	2	2	3	5	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:37107434C>A	ENST00000421307.1	-	24	1989		c.e24-1		LRRFIP2_ENST00000354379.4_Splice_Site|LRRFIP2_ENST00000336686.4_Splice_Site|LRRFIP2_ENST00000421276.2_Splice_Site|LRRFIP2_ENST00000440230.1_Splice_Site|LRRFIP2_ENST00000396428.2_Splice_Site	NM_006309.2	NP_006300.1	Q9Y608	LRRF2_HUMAN	leucine rich repeat (in FLII) interacting protein 2						Wnt receptor signaling pathway		LRR domain binding	p.0?(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						AGCCATGTTTCTGCAGGGGGG	0.493													A	37107434	C	A	37107434	5	1	714	1	0	0	0	0	0	0	1	0	9098	927	32	4	623	4	LRRFIP2	3	37107434	Splice_Site	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	27172527	37107434	160914996	13	54813											
KLHL6	89857	broad.mit.edu	37	chr3	183273417	183273417	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatcacccatggtccaggCgcccctttgtcctgccatca	7	9	7	18	1	2	0	2	0	0	0	4	0	4	0	6	2	1	0	6	2	0	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr3:183273417C>T	ENST00000341319.3	-	1	60	c.25G>A	c.(25-27)Gcc>Acc	p.A9T		NM_130446.2	NP_569713.2	Q8WZ60	KLHL6_HUMAN	kelch-like family member 6	9								p.A9T(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(6)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	all_cancers(143;9.2e-12)|Ovarian(172;0.0172)		all cancers(12;1.29e-44)|Epithelial(37;1.24e-38)|LUSC - Lung squamous cell carcinoma(7;2.58e-24)|Lung(8;1.79e-22)|OV - Ovarian serous cystadenocarcinoma(80;2.32e-22)			ATGGTCCAGGCGCCCCTTTGT	0.587													T	183273417	C	T	183273417	3	4	714	1	0	0	0	0	1	0	0	0	8451	768	27	1	1868	1	KLHL6	3	183273417	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	146165983	183273417	14749013	14	54814											
IL2	3558	broad.mit.edu	37	chr4	123372928	123372928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcagtgttgagatgatGctttgacaaaaggtaatcca	14	11	10	6	0	1	3	1	3	0	1	2	4	2	3	1	1	1	3	1	1	4	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:123372928G>A	ENST00000226730.4	-	4	725	c.441C>T	c.(439-441)agC>agT	p.S147S		NM_000586.3	NP_000577.2	P60568	IL2_HUMAN	interleukin 2	147					anti-apoptosis|cell adhesion|cell-cell signaling|immune response|natural killer cell activation|negative regulation of B cell apoptosis|positive regulation of activated T cell proliferation|positive regulation of B cell proliferation|positive regulation of cell growth|positive regulation of interleukin-17 production|positive regulation of tyrosine phosphorylation of Stat5 protein|T cell differentiation	extracellular space	cytokine activity|growth factor activity|interleukin-2 receptor binding|kinase activator activity			endometrium(2)|large_intestine(4)|lung(6)|skin(1)	13				LUSC - Lung squamous cell carcinoma(721;0.185)		TTGAGATGATGCTTTGACAAA	0.303			T	TNFRSF17	intestinal T-cell lymphoma								A	123372928	G	A	123372928	2	1	714	1	0	0	0	0	0	0	0	1	7724	1310	46	2		2	IL2	4	123372928	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		123372928	67781348	15	54815											
INTU	27152	broad.mit.edu	37	chr4	128608864	128608864	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agattgagaatgttcctcgtTtggatcatttttttaacttg	9	19	8	5	1	1	2	1	1	0	2	3	4	2	3	1	1	1	2	1	1	2	8			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr4:128608864T>G	ENST00000335251.6	+	8	1394	c.1291T>G	c.(1291-1293)Ttg>Gtg	p.L431V		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						TGTTCCTCGTTTGGATCATTT	0.443													G	128608864	T	G	128608864	3	3	714	1	0	0	0	0	1	0	0	0	7844	1838	64	5	1321	5	INTU	4	128608864	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	5235936	128608864	62545412	16	54816											
ADAMTS12	81792	broad.mit.edu	37	chr5	33576343	33576343	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggtggttacggtttgccGtctttcctgagggttctggc	3	15	14	9	2	3	1	1	1	2	0	4	1	4	1	2	5	2	3	2	5	1	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:33576343G>A	ENST00000504830.1	-	19	4123	c.3788C>T	c.(3787-3789)aCg>aTg	p.T1263M	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T1178M	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1263	Spacer 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	p.T1263M(2)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						ACGGTTTGCCGTCTTTCCTGA	0.502										HNSCC(64;0.19)			A	33576343	G	A	33576343	3	1	714	1	0	0	0	0	1	0	0	0	257	1145	40	1	1020	1	ADAMTS12	5	33576343	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		33576343	147338917	17	54817											
SEMA6A	57556	broad.mit.edu	37	chr5	115818156	115818156	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atacctgggcttaggaactcGttcatcaggaactggtgtcc	9	11	11	10	1	2	0	2	0	0	0	4	2	3	2	2	4	3	2	2	4	4	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:115818156G>A	ENST00000343348.6	-	11	1865	c.1078C>T	c.(1078-1080)Cga>Tga	p.R360*	SEMA6A_ENST00000257414.8_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000514214.1_RNA|CTB-118N6.3_ENST00000508640.1_RNA|SEMA6A_ENST00000510263.1_Nonsense_Mutation_p.R360*|CTB-118N6.3_ENST00000510682.1_RNA	NM_020796.3	NP_065847	Q9H2E6	SEM6A_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A	360	Sema.				apoptosis|axon guidance|cell surface receptor linked signaling pathway|cytoskeleton organization|organ morphogenesis	axon|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		all_cancers(142;0.00316)|all_epithelial(76;5.71e-05)|Prostate(80;0.00845)|Ovarian(225;0.0796)|Lung NSC(810;0.171)|all_lung(232;0.203)		OV - Ovarian serous cystadenocarcinoma(64;1.59e-08)|Epithelial(69;2e-08)|all cancers(49;5.7e-08)|COAD - Colon adenocarcinoma(49;0.151)		TTAGGAACTCGTTCATCAGGA	0.423													A	115818156	G	A	115818156	4	1	714	1	0	0	0	0	0	1	0	0	14132	1153	40	1	2050	1	SEMA6A	5	115818156	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	82241813	115818156	65097104	18	54818											
CD14	929	broad.mit.edu	37	chr5	140012294	140012294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggctcccactgtgagccgcCgcacgcggagagccttgacc	6	5	13	17	5	0	3	0	2	0	1	1	4	1	3	5	2	2	2	5	2	0	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140012294C>T	ENST00000302014.6	-	2	904	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	CD14_ENST00000401743.2_Missense_Mutation_p.R92Q	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	92					apoptosis|cellular response to lipopolysaccharide|cellular response to lipoteichoic acid|inflammatory response|innate immune response|phagocytosis|positive regulation of tumor necrosis factor production|Toll signaling pathway	anchored to membrane|plasma membrane	lipopolysaccharide binding|lipoteichoic acid binding|opsonin receptor activity|peptidoglycan receptor activity			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTGAGCCGCCGCACGCGGAG	0.647													T	140012294	C	T	140012294	3	4	714	1	0	0	0	0	1	0	0	0	2994	652	23	1	856	1	CD14	5	140012294	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	24194138	140012294	40902966	19	54819											
PCDHA10	56139	broad.mit.edu	37	chr5	140237891	140237891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcttactcgcagcagaggcGgcagagggtgtgttctgggg	6	9	18	8	2	2	2	0	0	2	2	3	2	2	2	0	5	2	4	0	5	1	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:140237891G>A	ENST00000307360.5	+	1	2258	c.2258G>A	c.(2257-2259)cGg>cAg	p.R753Q	PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018901.2	NP_061724.1														NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGCAGAGGCGGCAGAGGGTG	0.672													A	140237891	G	A	140237891	3	1	714	1	0	0	0	0	1	0	0	0	11596	1116	39	1	2260	1	PCDHA10	5	140237891	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	225597	140237891	40677369	20	54820											
HTR4	3360	broad.mit.edu	37	chr5	147830775	147830775	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catgattccagggattctggGtcattgtgtatgggcagttt	7	15	13	6	0	2	1	1	1	1	0	3	2	3	2	1	3	0	3	1	3	1	5			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:147830775G>A	ENST00000354217.2	-	7	1300	c.1137C>T	c.(1135-1137)gaC>gaT	p.D379D	HTR4_ENST00000314512.6_3'UTR|HTR4_ENST00000521735.1_3'UTR|HTR4_ENST00000521530.1_Silent_p.D379D			Q13639	5HT4R_HUMAN	5-hydroxytryptamine (serotonin) receptor 4, G protein-coupled	0					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cell proliferation	endosome|integral to plasma membrane|membrane fraction	serotonin receptor activity			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		Cisapride(DB00604)|Rizatriptan(DB00953)|Tegaserod(DB01079)|Zolmitriptan(DB00315)	GGGATTCTGGGTCATTGTGTA	0.473													A	147830775	G	A	147830775	2	1	714	1	0	0	0	0	0	0	0	1	7507	1252	44	2		2	HTR4	5	147830775	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	7592884	147830775	33084485	21	54821											
CDHR2	54825	broad.mit.edu	37	chr5	175995743	175995743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctctgacctatgggatgagCggccccaatgcctacttctt	7	11	9	14	1	2	2	0	2	2	0	2	3	2	3	5	2	3	0	5	2	3	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:175995743C>T	ENST00000510636.1	+	4	463	c.189C>T	c.(187-189)agC>agT	p.S63S	CDHR2_ENST00000506348.1_Silent_p.S63S|CDHR2_ENST00000261944.5_Silent_p.S63S	NM_001171976.1	NP_001165447.1	Q9BYE9	CDHR2_HUMAN	cadherin-related family member 2	63	Cadherin 1.				homophilic cell adhesion|negative regulation of cell growth	apical plasma membrane|cell junction|integral to membrane	calcium ion binding|protein binding			breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(8)|liver(1)|lung(23)|ovary(3)|prostate(5)|skin(4)|urinary_tract(1)	56						ATGGGATGAGCGGCCCCAATG	0.612													T	175995743	C	T	175995743	2	4	714	1	0	0	0	0	0	0	0	1	3149	767	27	1		1	CDHR2	5	175995743	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	28164968	175995743	4919517	22	54822											
SLC34A1	6569	broad.mit.edu	37	chr5	176824890	176824890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggcgctggggaaacgcaCggccaagtaccgctggtttg	9	6	15	11	4	0	0	0	0	0	0	0	1	0	1	2	5	2	5	2	5	4	2	rs148272921		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:176824890C>T	ENST00000324417.5	+	13	1614	c.1523C>T	c.(1522-1524)aCg>aTg	p.T508M	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	508					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGGAAACGCACGGCCAAGTAC	0.597													T	176824890	C	T	176824890	3	4	714	1	0	0	0	0	1	0	0	0	14661	536	19	1	1660	1	SLC34A1	5	176824890	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	829147	176824890	4090370	23	54823											
MAML1	9794	broad.mit.edu	37	chr5	179196082	179196082	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggcaacagcaccttctcGcggaacaggtaaaaagaaaa	18	4	10	9	2	1	2	0	0	1	2	2	3	1	3	1	3	3	3	1	3	7	2	rs144664410	by1000genomes	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr5:179196082G>A	ENST00000292599.3	+	3	2226	c.1963G>A	c.(1963-1965)Gcg>Acg	p.A655T	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	mastermind-like 1 (Drosophila)	655					Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity			central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GCACCTTCTCGCGGAACAGGT	0.512													A	179196082	G	A	179196082	3	1	714	1	0	0	0	0	1	0	0	0	9280	1087	38	1	1973	1	MAML1	5	179196082	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	2371192	179196082	1719178	24	54824											
IER3	8870	broad.mit.edu	37	chr6	30712191	30712191	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggagagggtcgaaggtgaaGatctcaggaccggagccccg	10	4	18	9	3	1	3	1	1	1	2	3	7	1	5	3	5	1	0	3	5	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:30712191G>A	ENST00000376377.2	-	1	134	c.105C>T	c.(103-105)atC>atT	p.I35I	IER3_ENST00000259874.5_Silent_p.I35I			P46695	IEX1_HUMAN	immediate early response 3	35					anatomical structure morphogenesis|anti-apoptosis|apoptosis	integral to membrane	protein binding			NS(1)	1						CGAAGGTGAAGATCTCAGGAC	0.736													A	30712191	G	A	30712191	2	1	714	1	0	0	0	0	0	0	0	1	7564	932	33	2		2	IER3	6	30712191	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		30712191	140402876	25	54825											
TFAP2D	83741	broad.mit.edu	37	chr6	50740480	50740480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacaagaacggcggagcggCggattctggccaaggacatg	11	5	15	10	4	2	1	1	0	1	1	2	4	2	4	1	6	2	0	1	6	3	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:50740480C>T	ENST00000008391.3	+	8	1490	c.1262C>T	c.(1261-1263)gCg>gTg	p.A421V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	421							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					GGCGGAGCGGCGGATTCTGGC	0.498													T	50740480	C	T	50740480	3	4	714	1	0	0	0	0	1	0	0	0	15890	768	27	1	1292	1	TFAP2D	6	50740480	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	20028289	50740480	120374587	26	54826											
GPR6	2830	broad.mit.edu	37	chr6	110300977	110300977	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctgcagcgtggtgcgccCgctggcgcgcagccacgtgg	3	5	17	16	7	0	0	0	0	0	0	0	0	0	0	3	3	4	3	3	3	0	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:110300977C>T	ENST00000414000.2	+	3	946	c.707C>T	c.(706-708)cCg>cTg	p.P236L	GPR6_ENST00000275169.3_Missense_Mutation_p.P221L			P46095	GPR6_HUMAN	G protein-coupled receptor 6	221						integral to plasma membrane				breast(1)|endometrium(1)|large_intestine(7)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;1.64e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;2.83e-05)|all_lung(197;0.00016)|Lung NSC(302;0.000318)|Colorectal(196;0.0488)		BRCA - Breast invasive adenocarcinoma(108;8.01e-05)|Epithelial(106;8.76e-05)|all cancers(137;0.000197)|OV - Ovarian serous cystadenocarcinoma(136;0.0307)		GTGGTGCGCCCGCTGGCGCGC	0.697													T	110300977	C	T	110300977	3	4	714	1	0	0	0	0	1	0	0	0	6755	652	23	1	664	1	GPR6	6	110300977	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	59560497	110300977	60814090	27	54827											
LAMA2	3908	broad.mit.edu	37	chr6	129649474	129649474	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ctcaaccaggtggccgcaccCctggaccaaccctgggcacc	8	4	10	19	1	1	0	1	0	0	0	1	1	1	1	7	4	2	2	7	4	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:129649474C>T	ENST00000421865.2	+	29	4277	c.4228C>T	c.(4228-4230)Cct>Tct	p.P1410S		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	1410	Laminin EGF-like 14; second part.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		TGGCCGCACCCCTGGACCAAC	0.507													T	129649474	C	T	129649474	3	4	714	1	0	0	0	0	1	0	0	0	8665	623	22	2	4342	2	LAMA2	6	129649474	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	19348497	129649474	41465593	28	54828											
TIAM2	26230	broad.mit.edu	37	chr6	155451307	155451307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctccccctcaggtatccGcctttctgatgaatacatgg	7	12	7	15	1	3	2	1	2	2	0	5	2	4	2	5	2	1	1	5	2	3	3	rs146734733		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr6:155451307G>A	ENST00000461783.3	+	6	2223	c.950G>A	c.(949-951)cGc>cAc	p.R317H	TIAM2_ENST00000529824.2_Missense_Mutation_p.R317H|TIAM2_ENST00000367174.2_5'UTR|TIAM2_ENST00000456144.1_Missense_Mutation_p.R317H|TIAM2_ENST00000360366.4_Missense_Mutation_p.R317H|TIAM2_ENST00000318981.5_Missense_Mutation_p.R317H			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	317					apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		TCAGGTATCCGCCTTTCTGAT	0.572													A	155451307	G	A	155451307	3	1	714	1	0	0	0	0	1	0	0	0	15991	1087	38	1	952	1	TIAM2	6	155451307	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	25801833	155451307	15663760	29	54829											
ADCYAP1R1	117	broad.mit.edu	37	chr7	31124942	31124942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taggaagctgcactgcacacGcaacttcatccacatgaacc	13	7	7	14	1	1	1	1	1	0	0	2	2	2	2	2	1	5	4	2	1	4	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:31124942G>A	ENST00000304166.4	+	9	843	c.554G>A	c.(553-555)cGc>cAc	p.R185H	ADCYAP1R1_ENST00000396211.2_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409489.1_Missense_Mutation_p.R185H|ADCYAP1R1_ENST00000409363.1_Missense_Mutation_p.R164H	NM_001118.4|NM_001199635.1|NM_001199636.1	NP_001109.2|NP_001186564.1|NP_001186565.1	P41586	PACR_HUMAN	adenylate cyclase activating polypeptide 1 (pituitary) receptor type I	185					activation of adenylate cyclase activity|cell differentiation|nerve growth factor receptor signaling pathway|spermatogenesis	integral to plasma membrane	vasoactive intestinal polypeptide receptor activity			endometrium(1)|large_intestine(4)|liver(2)|lung(24)|ovary(1)|skin(2)|stomach(1)	35						CACTGCACACGCAACTTCATC	0.542													A	31124942	G	A	31124942	3	1	714	1	0	0	0	0	1	0	0	0	303	1087	38	1	584	1	ADCYAP1R1	7	31124942	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		31124942	128013721	30	54830											
VPS41	27072	broad.mit.edu	37	chr7	38902218	38902218	+	Frame_Shift_Del	DEL	A	A	-																															cataatgtgtgcccaatgccAaaaactgtaagaagaacaaa																										TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:38902218delA	ENST00000310301.4	-	4	227	c.173delT	c.(172-174)ttgfs	p.L58fs	VPS41_ENST00000395969.2_Frame_Shift_Del_p.L58fs	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	58					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						GCCCAATGCCAAAAACTGTAA	0.308													-	38902218	A	-	38902218	7	5	714	1	0	1	0	1	0	0	0	0	17312	131	5	0	2495	0	VPS41	7	38902218	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08	7777276	38902218	120236445	31	54831											
PCLO	27445	broad.mit.edu	37	chr7	82474624	82474624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tctttttgctcactgaggggGaccctggttgcccagggctg	4	12	14	11	0	2	1	1	1	1	0	2	2	2	2	2	4	2	3	2	4	0	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:82474624G>C	ENST00000333891.9	-	13	14346	c.14009C>G	c.(14008-14010)tCc>tGc	p.S4670C	PCLO_ENST00000423517.2_Missense_Mutation_p.S4670C|PCLO_ENST00000426442.2_5'UTR	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein						cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CACTGAGGGGGACCCTGGTTG	0.502													C	82474624	G	C	82474624	3	2	714	1	0	0	0	0	1	0	0	0	11659	1174	41	4	1488	4	PCLO	7	82474624	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	43572406	82474624	76664039	32	54832											
GIGYF1	64599	broad.mit.edu	37	chr7	100284293	100284293	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agggctggcggagcgccagcGgtcgccgtctcgccggggcc	3	4	19	15	7	1	0	0	0	1	0	3	1	1	1	4	6	2	1	4	6	0	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr7:100284293G>A	ENST00000275732.5	-	7	1882	c.673C>T	c.(673-675)Cgc>Tgc	p.R225C	GIGYF1_ENST00000471340.2_Intron	NM_022574.4	NP_072096.2	O75420	PERQ1_HUMAN	GRB10 interacting GYF protein 1	225										central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	23	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)					GAGCGCCAGCGGTCGCCGTCT	0.687													A	100284293	G	A	100284293	3	1	714	1	0	0	0	0	1	0	0	0	6433	1116	39	1	2506	1	GIGYF1	7	100284293	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	17809669	100284293	58854370	33	54833											
MCPH1	79648	broad.mit.edu	37	chr8	6302235	6302235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgtttgaagagaagtatcGtttgtctcctaccttatctt	9	16	8	8	2	2	2	0	1	2	1	4	4	2	2	2	0	1	3	2	0	5	6			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:6302235G>A	ENST00000344683.5	+	8	1068	c.992G>A	c.(991-993)cGt>cAt	p.R331H	MCPH1_ENST00000522905.1_Missense_Mutation_p.R283H|MCPH1_ENST00000519480.1_Missense_Mutation_p.R331H	NM_024596.3	NP_078872	Q8NEM0	MCPH1_HUMAN	microcephalin 1	331						microtubule organizing center			AGPAT5/MCPH1(2)	central_nervous_system(1)|large_intestine(4)|skin(1)	6		Hepatocellular(245;0.0663)		Colorectal(4;0.0505)		GAGAAGTATCGTTTGTCTCCT	0.418													A	6302235	G	A	6302235	3	1	714	1	0	0	0	0	1	0	0	0	9473	1145	40	1	1022	1	MCPH1	8	6302235	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		6302235	140061787	34	54834											
LZTS1	11178	broad.mit.edu	37	chr8	20110916	20110916	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggctggacatggagttccGgccggagtctgacagcgccc	7	6	15	13	3	1	1	0	1	1	0	2	4	2	4	3	5	1	2	3	5	0	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:20110916G>A	ENST00000381569.1	-	3	883	c.526C>T	c.(526-528)Cgg>Tgg	p.R176W	LZTS1_ENST00000522290.1_Missense_Mutation_p.R176W|LZTS1_ENST00000265801.6_Missense_Mutation_p.R176W			Q9Y250	LZTS1_HUMAN	leucine zipper, putative tumor suppressor 1	176					cell cycle|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	cell junction|dendritic spine|Golgi apparatus|nucleolus|nucleoplasm|postsynaptic density|postsynaptic membrane	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(2)|skin(1)|urinary_tract(1)	29				Colorectal(74;0.0511)|COAD - Colon adenocarcinoma(73;0.207)		ATGGAGTTCCGGCCGGAGTCT	0.672													A	20110916	G	A	20110916	3	1	714	1	0	0	0	0	1	0	0	0	9209	1115	39	1	1272	1	LZTS1	8	20110916	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	13808681	20110916	126253106	35	54835											
NEFM	4741	broad.mit.edu	37	chr8	24771352	24771352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaacccgtccgcctaccggCgggtaaccgagacccgctcg	7	4	12	18	7	0	1	0	0	0	1	2	2	1	1	6	2	3	3	6	2	3	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:24771352C>T	ENST00000221166.5	+	1	828	c.46C>T	c.(46-48)Cgg>Tgg	p.R16W	NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.R16W|GS1-72M22.1_ENST00000607058.1_RNA|NEFM_ENST00000437366.2_Missense_Mutation_p.R16W			P07197	NFM_HUMAN	neurofilament, medium polypeptide	16	Head.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		CGCCTACCGGCGGGTAACCGA	0.701													T	24771352	C	T	24771352	3	4	714	1	0	0	0	0	1	0	0	0	10392	759	27	1	48	1	NEFM	8	24771352	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4660436	24771352	121592670	36	54836											
KIF13B	23303	broad.mit.edu	37	chr8	28956707	28956707	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagggcgggggcaggagctaTtcctctggaaactgtggttt	7	10	17	7	1	1	0	0	0	1	0	2	3	2	2	1	6	2	3	1	6	2	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr8:28956707T>C	ENST00000524189.1	-	36	4305	c.4267A>G	c.(4267-4269)Ata>Gta	p.I1423V	KIF13B_ENST00000404075.3_5'UTR	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	1423					microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		GCAGGAGCTATTCCTCTGGAA	0.428													C	28956707	T	C	28956707	3	2	714	1	0	0	0	0	1	0	0	0	8333	1493	52	3	1233	3	KIF13B	8	28956707	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	4185355	28956707	117407315	37	54837											
RFX3	5991	broad.mit.edu	37	chr9	3257179	3257179	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accatgttgtcatcacactgGcacacccaggaagcctgctc	10	8	8	15	0	2	0	2	0	0	0	3	1	2	1	3	2	2	3	3	2	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:3257179G>A	ENST00000382004.3	-	15	1937	c.1626C>T	c.(1624-1626)tgC>tgT	p.C542C	RFX3_ENST00000302303.1_Silent_p.C542C|RFX3_ENST00000358730.2_Silent_p.C542C	NM_001282116.1|NM_134428.1	NP_001269045.1|NP_602304.1	P48380	RFX3_HUMAN	regulatory factor X, 3 (influences HLA class II expression)	542					cell maturation|ciliary cell motility|cilium assembly|cilium movement involved in determination of left/right asymmetry|endocrine pancreas development|negative regulation of transcription, DNA-dependent|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type B pancreatic cell development|regulation of insulin secretion	nuclear chromatin	protein binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(11)|large_intestine(3)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	40				GBM - Glioblastoma multiforme(50;0.00124)|Lung(2;0.0337)		CATCACACTGGCACACCCAGG	0.483													A	3257179	G	A	3257179	2	1	714	1	0	0	0	0	0	0	0	1	13352	1195	42	2		2	RFX3	9	3257179	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		3257179	137956252	38	54838											
CD72	971	broad.mit.edu	37	chr9	35615999	35615999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatgttgctcagcttctgcTccaaggccctcctctgttgc	4	13	8	16	0	3	0	1	0	2	0	5	0	5	0	4	1	4	5	4	1	1	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:35615999T>C	ENST00000396757.1	-	6	793	c.629A>G	c.(628-630)gAg>gGg	p.E210G	CD72_ENST00000490239.1_5'UTR|CD72_ENST00000259633.4_Missense_Mutation_p.E210G			P21854	CD72_HUMAN	CD72 molecule	210					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CAGCTTCTGCTCCAAGGCCCT	0.582													C	35615999	T	C	35615999	3	2	714	1	0	0	0	0	1	0	0	0	3064	1551	54	3	466	3	CD72	9	35615999	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	32358820	35615999	105597432	39	54839											
TRPM3	80036	broad.mit.edu	37	chr9	73399070	73399070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccaggatgtccgatgcccGtccactcccatcacagacaa	10	6	9	16	2	1	1	1	0	0	1	4	3	4	2	5	2	1	0	5	2	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:73399070G>A	ENST00000377110.3	-	7	1342	c.1099C>T	c.(1099-1101)Cgg>Tgg	p.R367W	TRPM3_ENST00000396280.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377101.1_Missense_Mutation_p.R214W|TRPM3_ENST00000408909.2_Missense_Mutation_p.R214W|TRPM3_ENST00000358082.3_Missense_Mutation_p.R239W|TRPM3_ENST00000361823.5_Missense_Mutation_p.R214W|TRPM3_ENST00000377111.2_Missense_Mutation_p.R367W|TRPM3_ENST00000357533.2_Missense_Mutation_p.R369W|TRPM3_ENST00000396285.1_Missense_Mutation_p.R214W|TRPM3_ENST00000423814.3_Missense_Mutation_p.R394W|TRPM3_ENST00000396283.1_Missense_Mutation_p.R239W|TRPM3_ENST00000396292.4_Missense_Mutation_p.R239W|TRPM3_ENST00000360823.2_Missense_Mutation_p.R239W|TRPM3_ENST00000377106.1_Missense_Mutation_p.R239W|TRPM3_ENST00000377105.1_Missense_Mutation_p.R214W			Q9HCF6	TRPM3_HUMAN	transient receptor potential cation channel, subfamily M, member 3							integral to membrane	calcium channel activity	p.R239W(1)		NS(2)|breast(4)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(18)|liver(1)|lung(46)|ovary(3)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(1)	95						TCCGATGCCCGTCCACTCCCA	0.532													A	73399070	G	A	73399070	3	1	714	1	0	0	0	0	1	0	0	0	16688	1144	40	1	4144	1	TRPM3	9	73399070	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	37783071	73399070	67814361	40	54840											
TLE4	7091	broad.mit.edu	37	chr9	82337427	82337427	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtggggatggagaacagcaAtgtggaagttttgcatgtca	12	10	15	4	0	1	1	1	0	0	1	1	4	1	3	0	4	3	3	0	4	3	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:82337427A>G	ENST00000376520.4	+	19	2972	c.2144A>G	c.(2143-2145)aAt>aGt	p.N715S	TLE4_ENST00000376534.4_Missense_Mutation_p.N320S|TLE4_ENST00000376552.2_Missense_Mutation_p.N683S|TLE4_ENST00000265284.6_Missense_Mutation_p.N658S|TLE4_ENST00000376544.3_Missense_Mutation_p.N614S|TLE4_ENST00000376537.4_Missense_Mutation_p.N715S	NM_001282748.1	NP_001269677.1	O60756	BCE1_HUMAN	transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)	0										breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						GAGAACAGCAATGTGGAAGTT	0.483													G	82337427	A	G	82337427	3	3	714	1	0	0	0	0	1	0	0	0	16041	101	4	3	2118	3	TLE4	9	82337427	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	8938357	82337427	58876004	41	54841											
LPPR1	54886	broad.mit.edu	37	chr9	104048420	104048420	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatatccatgtatttcataaAatcaacaagagaatccctga	17	11	5	8	0	2	2	2	1	0	1	4	4	4	2	2	0	1	1	2	0	7	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:104048420A>T	ENST00000374874.3	+	4	726	c.287A>T	c.(286-288)aAa>aTa	p.K96I	LPPR1_ENST00000395056.2_Missense_Mutation_p.K96I	NM_207299.1	NP_997182.1	Q8TBJ4	LPPR1_HUMAN		96						integral to membrane	catalytic activity										TATTTCATAAAATCAACAAGA	0.388													T	104048420	A	T	104048420	3	4	714	1	0	0	0	0	1	0	0	0	8994	14	1	5	297	5	LPPR1	9	104048420	Missense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08	21710993	104048420	37165011	42	54842											
ZMYND19	116225	broad.mit.edu	37	chr9	140477531	140477531	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tccccgttggcattataataCcgggtcacatttaggacagg	10	11	10	10	2	1	0	1	0	0	0	2	1	2	1	3	4	1	2	3	4	4	6			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr9:140477531C>G	ENST00000298585.2	-	5	670	c.444G>C	c.(442-444)cgG>cgC	p.R148R		NM_138462.2	NP_612471.1	Q96E35	ZMY19_HUMAN	zinc finger, MYND-type containing 19	148						Golgi apparatus|plasma membrane	zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	13	all_cancers(76;0.106)			OV - Ovarian serous cystadenocarcinoma(145;0.000275)|Epithelial(140;0.00047)		CATTATAATACCGGGTCACAT	0.478													G	140477531	C	G	140477531	2	3	714	1	0	0	0	0	0	0	0	1	17811	494	18	4		4	ZMYND19	9	140477531	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	36429111	140477531	735900	43	54843											
GPRIN2	9721	broad.mit.edu	37	chr10	47000104	47000104	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgctcggtgtggccatccaGaagcacctggagatgcagtt	8	9	14	10	1	0	2	0	0	0	2	2	3	1	2	3	3	3	4	3	3	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr10:47000104G>C	ENST00000374314.4	+	1	2179	c.1224G>C	c.(1222-1224)caG>caC	p.Q408H	GPRIN2_ENST00000374317.1_Missense_Mutation_p.Q408H			O60269	GRIN2_HUMAN	G protein regulated inducer of neurite outgrowth 2	408										breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)	18						TGGCCATCCAGAAGCACCTGG	0.672													C	47000104	G	C	47000104	3	2	714	1	0	0	0	0	1	0	0	0	6785	933	33	4	1226	4	GPRIN2	10	47000104	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		47000104	88534643	44	54844											
MUC5B	727897	broad.mit.edu	37	chr11	1248558	1248558	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggagctggatcccaaataCgccaaccagacctgtggcct	10	7	10	14	1	0	1	0	0	0	1	1	3	1	3	5	3	3	1	5	3	3	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:1248558C>T	ENST00000447027.1	+	6	655	c.597C>T	c.(595-597)taC>taT	p.Y199Y	MUC5B_ENST00000529681.1_Silent_p.Y199Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	199	VWFD 1.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ATCCCAAATACGCCAACCAGA	0.637													T	1248558	C	T	1248558	2	4	714	1	0	0	0	0	0	0	0	1	10055	547	19	1		1	MUC5B	11	1248558	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08		1248558	133757958	45	54845											
MRGPRX3	117195	broad.mit.edu	37	chr11	18159394	18159394	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgccgctgaccaggctgtaCgtgaccatcctcctcacagt	8	9	9	15	2	1	2	1	2	0	0	3	2	3	2	5	1	2	3	5	1	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:18159394C>T	ENST00000396275.2	+	3	1006	c.645C>T	c.(643-645)taC>taT	p.Y215Y		NM_054031.3	NP_473372.3	Q96LB0	MRGX3_HUMAN	MAS-related GPR, member X3	215						integral to membrane|plasma membrane	G-protein coupled receptor activity	p.Y215Y(1)		NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27						CCAGGCTGTACGTGACCATCC	0.562													T	18159394	C	T	18159394	2	4	714	1	0	0	0	0	0	0	0	1	9844	547	19	1		1	MRGPRX3	11	18159394	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	16910836	18159394	116847122	46	54846											
SLC43A3	29015	broad.mit.edu	37	chr11	57182153	57182153	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagcaggccattccaggggGcacacagcactccgaactga	11	5	12	13	1	0	2	0	2	0	0	2	3	2	2	3	3	3	3	3	3	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:57182153G>A	ENST00000395123.2	-	11	1299	c.995C>T	c.(994-996)gCc>gTc	p.A332V	SLC43A3_ENST00000529554.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000395124.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000352187.1_Missense_Mutation_p.A332V|SLC43A3_ENST00000533524.1_Missense_Mutation_p.A345V	NM_001278201.1|NM_014096.2	NP_001265130.1|NP_054815.2	Q8NBI5	S43A3_HUMAN	solute carrier family 43, member 3	332					transmembrane transport	integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(10)|lung(4)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	27						ATTCCAGGGGGCACACAGCAC	0.542													A	57182153	G	A	57182153	3	1	714	1	0	0	0	0	1	0	0	0	14728	1203	42	2	496	2	SLC43A3	11	57182153	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	39022759	57182153	77824363	47	54847											
ADAMTS15	170689	broad.mit.edu	37	chr11	130341194	130341194	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctgtgatgggaacctgggctCcaagaagagattcgacaagt	12	8	13	8	1	0	3	0	1	0	2	2	6	1	4	2	2	1	1	2	2	4	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr11:130341194C>G	ENST00000299164.2	+	7	1994	c.1994C>G	c.(1993-1995)tCc>tGc	p.S665C		NM_139055.2	NP_620686.1	Q8TE58	ATS15_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 15	665	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(16)|pancreas(1)|prostate(1)|skin(8)|urinary_tract(1)	36	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0631)|Lung(977;0.215)		AACCTGGGCTCCAAGAAGAGA	0.577													G	130341194	C	G	130341194	3	3	714	1	0	0	0	0	1	0	0	0	260	855	30	4	2020	4	ADAMTS15	11	130341194	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	73159041	130341194	4665322	48	54848											
KRT86	3892	broad.mit.edu	37	chr12	52695806	52695806	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccccctaccgtggcatcTcctgctaccgcggcctcacc	4	7	8	22	4	2	0	1	0	1	0	3	0	2	0	8	2	3	2	8	2	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:52695806T>A	ENST00000293525.5	+	1	158	c.106T>A	c.(106-108)Tcc>Acc	p.S36T	KRT86_ENST00000423955.2_Missense_Mutation_p.S36T|KRT86_ENST00000544024.1_Missense_Mutation_p.S36T	NM_002284.3	NP_002275.1	O43790	KRT86_HUMAN	keratin 86	36	Head.				cytoskeleton organization	keratin filament	structural molecule activity			breast(1)|cervix(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	10				BRCA - Breast invasive adenocarcinoma(357;0.189)		CCGTGGCATCTCCTGCTACCG	0.726													A	52695806	T	A	52695806	3	1	714	1	0	0	0	0	1	0	0	0	8558	1551	54	5	108	5	KRT86	12	52695806	Missense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08		52695806	81156089	49	54849											
RASSF9	9182	broad.mit.edu	37	chr12	86199652	86199652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacatcagcagaggtggtgcGtttagtcagcccacagacaa	12	7	12	10	1	2	2	2	0	0	2	2	3	2	2	1	2	3	2	1	2	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:86199652G>A	ENST00000361228.3	-	2	504	c.136C>T	c.(136-138)Cgc>Tgc	p.R46C		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	46	Ras-associating.				endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						GAGGTGGTGCGTTTAGTCAGC	0.453													A	86199652	G	A	86199652	3	1	714	1	0	0	0	0	1	0	0	0	13181	1145	40	1	1175	1	RASSF9	12	86199652	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	33503846	86199652	47652243	50	54850											
RIMBP2	23504	broad.mit.edu	37	chr12	130963555	130963555	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgccgttcagccgcctctcGcatatgctgtggggacagag	6	8	13	14	4	2	1	1	0	1	1	3	2	2	2	4	2	2	3	4	2	1	2	rs138967663		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr12:130963555G>A	ENST00000261655.4	-	3	167	c.4C>T	c.(4-6)Cga>Tga	p.R2*	RIMBP2_ENST00000536002.1_5'UTR|RIMBP2_ENST00000535703.1_5'UTR	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	2						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		GCCGCCTCTCGCATATGCTGT	0.617													A	130963555	G	A	130963555	4	1	714	1	0	0	0	0	0	1	0	0	13452	1095	38	1	3222	1	RIMBP2	12	130963555	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	44763903	130963555	2888340	51	54851											
ATP12A	479	broad.mit.edu	37	chr13	25265131	25265131	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccctgtaggcactgtcaccGgcatggttatcaacacgggt	8	9	11	13	2	2	0	2	0	0	0	2	0	2	0	3	4	1	4	3	4	3	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr13:25265131G>A	ENST00000218548.6	+	8	1162	c.829G>A	c.(829-831)Ggc>Agc	p.G277S	ATP12A_ENST00000381946.3_Missense_Mutation_p.G271S	NM_001185085.1|NM_001676.5	NP_001172014.1|NP_001667.4	P54707	AT12A_HUMAN	ATPase, H+/K+ transporting, nongastric, alpha polypeptide	271					ATP biosynthetic process	hydrogen:potassium-exchanging ATPase complex	ATP binding|hydrogen:potassium-exchanging ATPase activity|metal ion binding			breast(6)|central_nervous_system(4)|endometrium(3)|kidney(5)|large_intestine(23)|lung(23)|ovary(2)|pancreas(1)|prostate(2)|skin(5)	74		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0307)|Epithelial(112;0.086)|OV - Ovarian serous cystadenocarcinoma(117;0.228)	Esomeprazole(DB00736)|Pantoprazole(DB00213)	CACTGTCACCGGCATGGTTAT	0.562													A	25265131	G	A	25265131	3	1	714	1	0	0	0	0	1	0	0	0	1127	1116	39	1	859	1	ATP12A	13	25265131	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		25265131	89904747	52	54852											
AHNAK2	113146	broad.mit.edu	37	chr14	105417287	105417287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcagacaccccgaacgacgGcatcttgaacttgggcattt	10	8	11	12	3	1	2	0	1	1	1	1	4	1	2	2	3	2	3	2	3	2	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr14:105417287G>A	ENST00000333244.5	-	7	4620	c.4501C>T	c.(4501-4503)Ccg>Tcg	p.P1501S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1501						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCGAACGACGGCATCTTGAAC	0.602													A	105417287	G	A	105417287	3	1	714	1	0	0	0	0	1	0	0	0	415	1203	42	2	12890	2	AHNAK2	14	105417287	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		105417287	1932253	53	54853											
TYRO3	7301	broad.mit.edu	37	chr15	41865285	41865285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctcggaacttcatccaccGagacctggctgctcggaatt	8	10	9	14	3	2	1	1	0	1	1	5	4	3	3	3	3	2	2	3	3	2	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr15:41865285G>A	ENST00000263798.3	+	16	2185	c.1961G>A	c.(1960-1962)cGa>cAa	p.R654Q	TYRO3_ENST00000559066.1_Missense_Mutation_p.R609Q	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	654	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		TTCATCCACCGAGACCTGGCT	0.582													A	41865285	G	A	41865285	3	1	714	1	0	0	0	0	1	0	0	0	16916	1058	37	1	2023	1	TYRO3	15	41865285	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		41865285	60666107	54	54854											
SYT17	51760	broad.mit.edu	37	chr16	19195264	19195264	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcagaccggggtcaaacGcaagacccagaagcccgtgt	14	3	12	12	3	1	3	1	0	0	3	1	3	1	3	3	2	3	2	3	2	4	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:19195264G>A	ENST00000562034.1	+	3	4361	c.563G>A	c.(562-564)cGc>cAc	p.R188H	SYT17_ENST00000568115.1_Missense_Mutation_p.R188H|SYT17_ENST00000562711.2_Missense_Mutation_p.R245H|SYT17_ENST00000355377.2_Missense_Mutation_p.R249H			Q9BSW7	SYT17_HUMAN	synaptotagmin XVII	249	C2 1.					membrane|synaptic vesicle	transporter activity			NS(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)	17						GGGGTCAAACGCAAGACCCAG	0.592													A	19195264	G	A	19195264	3	1	714	1	0	0	0	0	1	0	0	0	15570	1087	38	1	764	1	SYT17	16	19195264	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		19195264	71159489	55	54855											
ATXN2L	11273	broad.mit.edu	37	chr16	28842379	28842379	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggagaaacttctgttcCacctcctcctgcaggtaaag	9	12	8	12	0	2	1	0	0	2	1	5	2	5	1	4	2	2	3	4	2	3	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28842379C>A	ENST00000336783.4	+	10	1474	c.1307C>A	c.(1306-1308)cCa>cAa	p.P436Q	ATXN2L_ENST00000395547.2_Missense_Mutation_p.P436Q|RP11-24N18.1_ENST00000563565.1_RNA|ATXN2L_ENST00000564304.1_Missense_Mutation_p.P436Q|ATXN2L_ENST00000325215.6_Missense_Mutation_p.P436Q|ATXN2L_ENST00000382686.4_Missense_Mutation_p.P436Q|ATXN2L_ENST00000340394.8_Missense_Mutation_p.P436Q|ATXN2L_ENST00000570200.1_Missense_Mutation_p.P436Q	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	436						membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						ACTTCTGTTCCACCTCCTCCT	0.473													A	28842379	C	A	28842379	3	1	714	1	0	0	0	0	1	0	0	0	1217	594	21	4	1345	4	ATXN2L	16	28842379	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	9647115	28842379	61512374	56	54856											
SH2B1	25970	broad.mit.edu	37	chr16	28883967	28883967	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaccccatccctttggagtCgggaggctccagtgatgttg	6	10	13	12	1	0	1	0	1	0	0	3	3	2	3	4	3	0	3	4	3	0	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:28883967C>T	ENST00000337120.5	+	7	5129	c.1838C>T	c.(1837-1839)tCg>tTg	p.S613L	SH2B1_ENST00000545570.1_Missense_Mutation_p.S303L|SH2B1_ENST00000395532.4_Missense_Mutation_p.S613L|SH2B1_ENST00000563674.1_Intron|SH2B1_ENST00000359285.5_Missense_Mutation_p.S613L|SH2B1_ENST00000538342.1_Missense_Mutation_p.S277L|SH2B1_ENST00000322610.8_Missense_Mutation_p.S613L	NM_001145812.1|NM_015503.2	NP_001139284.1|NP_056318.2	Q9NRF2	SH2B1_HUMAN	SH2B adaptor protein 1	613	SH2.				blood coagulation|intracellular signal transduction	cytosol|membrane|nucleus	signal transducer activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						CCTTTGGAGTCGGGAGGCTCC	0.612													T	28883967	C	T	28883967	3	4	714	1	0	0	0	0	1	0	0	0	14320	893	31	1	1864	1	SH2B1	16	28883967	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	41588	28883967	61470786	57	54857											
FTO	79068	broad.mit.edu	37	chr16	53859939	53859939	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgctcactccggtatctcGcatcctcattggtaatccag	7	13	7	14	2	4	0	2	0	2	0	8	0	7	0	3	2	1	4	3	2	2	3	rs139577103		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:53859939G>A	ENST00000471389.1	+	3	509	c.287G>A	c.(286-288)cGc>cAc	p.R96H	FTO_ENST00000394647.3_Intron	NM_001080432.2	NP_001073901.1	Q9C0B1	FTO_HUMAN	fat mass and obesity associated	96	Fe2OG dioxygenase domain.				DNA dealkylation involved in DNA repair|oxidative single-stranded DNA demethylation|oxidative single-stranded RNA demethylation|RNA repair	nucleus	DNA-N1-methyladenine dioxygenase activity|ferrous iron binding|oxidative DNA demethylase activity|oxidative RNA demethylase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			endometrium(1)|kidney(2)|large_intestine(7)|lung(13)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						CCGGTATCTCGCATCCTCATT	0.498													A	53859939	G	A	53859939	3	1	714	1	0	0	0	0	1	0	0	0	6138	1087	38	1	297	1	FTO	16	53859939	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	24975972	53859939	36494814	58	54858											
SPG7	6687	broad.mit.edu	37	chr16	89592756	89592756	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggctagccttgatgtaccGaatgcaggttgcaaatattg	10	11	12	8	2	0	1	0	1	0	0	0	2	0	1	2	2	4	5	2	2	5	6	rs147673636		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr16:89592756G>A	ENST00000268704.2	+	5	653	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	SPG7_ENST00000341316.2_Missense_Mutation_p.R213Q	NM_003119.2	NP_003110.1	Q9UQ90	SPG7_HUMAN	spastic paraplegia 7 (pure and complicated autosomal recessive)	213					cell death|nervous system development|protein catabolic process|proteolysis	integral to membrane|mitochondrial membrane	ATP binding|metalloendopeptidase activity|nucleoside-triphosphatase activity|unfolded protein binding|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|urinary_tract(1)	20		all_hematologic(23;0.00824)|Colorectal(91;0.102)		all cancers(4;1.39e-07)|OV - Ovarian serous cystadenocarcinoma(4;5.64e-06)|BRCA - Breast invasive adenocarcinoma(80;0.015)		TTGATGTACCGAATGCAGGTT	0.532													A	89592756	G	A	89592756	3	1	714	1	0	0	0	0	1	0	0	0	15140	1058	37	1	656	1	SPG7	16	89592756	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	35732817	89592756	761997	59	54859											
EIF5A	1984	broad.mit.edu	37	chr17	7214424	7214424	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatggatgtccccaacatcAaaaggaatgacttccaggta	15	9	8	9	0	1	1	1	1	0	0	3	3	3	3	3	3	1	1	3	3	6	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:7214424A>T	ENST00000336458.8	+	3	654	c.253A>T	c.(253-255)Aaa>Taa	p.K85*	EIF5A_ENST00000416016.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000571955.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000572815.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000419711.2_Nonsense_Mutation_p.K85*|EIF5A_ENST00000576930.1_Nonsense_Mutation_p.K85*|EIF5A_ENST00000336452.7_Nonsense_Mutation_p.K115*|EIF5A_ENST00000573542.1_Nonsense_Mutation_p.K85*	NM_001970.4	NP_001961.1	P63241	IF5A1_HUMAN	eukaryotic translation initiation factor 5A	85	DOHH-binding.			K -> R (in Ref. 3; AAD14095).	induction of apoptosis|mRNA export from nucleus|peptidyl-lysine modification to hypusine|positive regulation of cell proliferation|positive regulation of translational elongation|positive regulation of translational termination|post-translational protein modification|protein export from nucleus|translational frameshifting|transmembrane transport	annulate lamellae|cytosol|endoplasmic reticulum membrane|nuclear pore	protein N-terminus binding|ribosome binding|translation elongation factor activity|U6 snRNA binding			endometrium(2)|kidney(1)|large_intestine(2)|urinary_tract(1)	6						CCCCAACATCAAAAGGAATGA	0.468													T	7214424	A	T	7214424	4	4	714	1	0	0	0	0	0	1	0	0	5082	131	5	5	353	5	EIF5A	17	7214424	Nonsense_Mutation	SNP	A	TCGA-S9-A6WM-01A-12D-A33T-08		7214424	73980786	60	54860											
SREBF1	6720	broad.mit.edu	37	chr17	17718610	17718610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctctaagagatgttccCggaatagctgagtcacctgg	9	10	11	11	2	2	2	1	1	1	1	4	4	3	3	2	2	1	3	2	2	3	3			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:17718610C>T	ENST00000355815.4	-	14	2676	c.2507G>A	c.(2506-2508)cGg>cAg	p.R836Q	SREBF1_ENST00000261646.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000338854.5_Missense_Mutation_p.R806Q|SREBF1_ENST00000395757.1_Missense_Mutation_p.R552Q	NM_001005291.2	NP_001005291.1	P36956	SRBP1_HUMAN	sterol regulatory element binding transcription factor 1	806					cellular response to starvation|cholesterol metabolic process|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter	endoplasmic reticulum|endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|Golgi membrane|integral to membrane|nuclear envelope|nucleus	protein binding|sequence-specific DNA binding transcription factor activity|sterol response element binding			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	14						GAGATGTTCCCGGAATAGCTG	0.617													T	17718610	C	T	17718610	3	4	714	1	0	0	0	0	1	0	0	0	15237	652	23	1	1054	1	SREBF1	17	17718610	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	10504186	17718610	63476600	61	54861											
KRT25	147183	broad.mit.edu	37	chr17	38907516	38907516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agaactgtgaggtccaccccGggggctgcgttcatctccac	7	8	12	14	2	2	2	1	1	1	1	4	2	3	2	4	3	2	2	4	3	1	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:38907516G>A	ENST00000312150.4	-	4	792	c.732C>T	c.(730-732)ccC>ccT	p.P244P		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	244	Linker 12.|Rod.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				GGTCCACCCCGGGGGCTGCGT	0.577													A	38907516	G	A	38907516	2	1	714	1	0	0	0	0	0	0	0	1	8520	1103	39	1		1	KRT25	17	38907516	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	21188906	38907516	42287694	62	54862											
GH2	2689	broad.mit.edu	37	chr17	61957710	61957710	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagctgccctccacagagcGgcactgcacgatgcgcagga	10	4	12	15	3	0	1	0	0	0	1	1	3	1	2	2	2	5	4	2	2	0	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:61957710G>A	ENST00000423893.2	-	5	686	c.625C>T	c.(625-627)Cgc>Tgc	p.R209C	GH2_ENST00000456543.2_Silent_p.A207A|GH2_ENST00000449787.2_Missense_Mutation_p.R194C|GH2_ENST00000332800.7_3'UTR			P01242	SOM2_HUMAN	growth hormone 2	209						extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						TCCACAGAGCGGCACTGCACG	0.607													A	61957710	G	A	61957710	3	1	714	1	0	0	0	0	1	0	0	0	6424	1116	39	1	120	1	GH2	17	61957710	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	23050194	61957710	19237500	63	54863											
KIAA0195	9772	broad.mit.edu	37	chr17	73482037	73482039	+	In_Frame_Del	DEL	TGC	TGC	-																															ctcactcatgctactggccgTgctgctgctgctgggctgct																										TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73482037_73482039delTGC	ENST00000314256.7	+	4	624_626	c.230_232delTGC	c.(229-234)gtgctg>gtg	p.L81del	KIAA0195_ENST00000375248.5_In_Frame_Del_p.L91del|KIAA0195_ENST00000579208.1_Intron	NM_014738.4	NP_055553.3	Q12767	K0195_HUMAN	KIAA0195	81					ATP biosynthetic process|cation transport	integral to membrane	ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism			breast(2)|endometrium(5)|kidney(2)|large_intestine(7)|lung(17)|ovary(5)|skin(2)|stomach(1)|urinary_tract(1)	42	all_cancers(13;3.15e-09)|all_epithelial(9;5.94e-10)|Breast(9;1.85e-09)|all_lung(278;0.246)		all cancers(21;5.01e-07)|Epithelial(20;5e-06)|Lung(188;0.0809)|LUSC - Lung squamous cell carcinoma(166;0.154)			CTACTGGCCGTGCTGCTGCTGCT	0.675													-	73482039	TGC	-	73482037	7	5	714	1	0	1	0	1	0	0	0	0	8218	1696	59	0	240	0	KIAA0195	17	73482037	In_Frame_Del	DEL	TGC	TCGA-S9-A6WM-01A-12D-A33T-08	11524327	73482037	7713173	64	54864											
SAP30BP	29115	broad.mit.edu	37	chr17	73702109	73702109	+	Frame_Shift_Del	DEL	A	A	-																															ttgagtttgtgacgggcaccAaaaaaggcaccacgaccaac																										TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:73702109delA	ENST00000584667.1	+	10	939	c.682delA	c.(682-684)aaafs	p.K229fs	SAP30BP_ENST00000355423.3_Frame_Shift_Del_p.K213fs	NM_013260.6	NP_037392.1	Q9UHR5	S30BP_HUMAN	SAP30 binding protein	229	Thr-rich.				apoptosis|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)	17	all_cancers(13;6.42e-08)		all cancers(21;4.25e-07)|Epithelial(20;9.57e-07)|Lung(188;0.132)|LUSC - Lung squamous cell carcinoma(166;0.154)			GACGGGCACCAAAAAAGGcac	0.572													-	73702109	A	-	73702109	7	5	714	1	0	1	0	1	0	0	0	0	13926	131	5	0	720	0	SAP30BP	17	73702109	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08	220072	73702109	7493101	65	54865											
ST6GALNAC1	55808	broad.mit.edu	37	chr17	74622800	74622800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgactgggtcagggagaagGcggtaaagccgtagaaggat	12	6	18	5	2	1	3	1	1	0	2	1	5	1	4	1	5	1	2	1	5	5	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr17:74622800G>A	ENST00000156626.7	-	5	1443	c.1244C>T	c.(1243-1245)gCc>gTc	p.A415V		NM_018414.3	NP_060884.1	Q9NSC7	SIA7A_HUMAN	ST6 (alpha-N-acetyl-neuraminyl-2,3-beta-galactosyl-1,3)-N-acetylgalactosaminide alpha-2,6-sialyltransferase 1	415					protein glycosylation	integral to Golgi membrane	alpha-N-acetylgalactosaminide alpha-2,6-sialyltransferase activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(11)|prostate(1)|upper_aerodigestive_tract(1)	22						CAGGGAGAAGGCGGTAAAGCC	0.537													A	74622800	G	A	74622800	3	1	714	1	0	0	0	0	1	0	0	0	15319	1203	42	2	578	2	ST6GALNAC1	17	74622800	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	920691	74622800	6572410	66	54866											
MYOM1	8736	broad.mit.edu	37	chr18	3168873	3168873	+	Frame_Shift_Del	DEL	A	A	-																															atttcaggagtgatgacaacAcgacagcctagactcattgt																										TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:3168873delA	ENST00000400569.3	-	9	1614	c.1281delT	c.(1279-1281)cgtfs	p.R427fs	MYOM1_ENST00000356443.4_Frame_Shift_Del_p.R427fs|MYOM1_ENST00000261606.7_Frame_Shift_Del_p.R427fs			P52179	MYOM1_HUMAN	myomesin 1	427	Ig-like C2-type 2.					striated muscle myosin thick filament	structural constituent of muscle			NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						TGATGACAACACGACAGCCTA	0.428													-	3168873	A	-	3168873	7	5	714	1	0	1	0	1	0	0	0	0	10167	146	6	0	3896	0	MYOM1	18	3168873	Frame_Shift_Del	DEL	A	TCGA-S9-A6WM-01A-12D-A33T-08		3168873	74908375	67	54867											
DSC3	1825	broad.mit.edu	37	chr18	28576872	28576872	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgatgatgcccagcccccCggcaggattccaaggtctgg	8	8	12	13	1	1	2	0	2	1	0	2	3	2	3	5	4	2	1	5	4	2	2	rs138126171		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:28576872C>T	ENST00000434452.1	-	15	2532	c.2378G>A	c.(2377-2379)cGg>cAg	p.R793Q	DSC3_ENST00000360428.4_Missense_Mutation_p.R793Q	NM_024423.2	NP_077741.2	Q14574	DSC3_HUMAN	desmocollin 3	793					homophilic cell adhesion|protein stabilization	desmosome|integral to membrane|membrane fraction	calcium ion binding|gamma-catenin binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(29)|ovary(2)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56			OV - Ovarian serous cystadenocarcinoma(10;0.125)			CCCAGCCCCCCGGCAGGATTC	0.507													T	28576872	C	T	28576872	3	4	714	1	0	0	0	0	1	0	0	0	4806	652	23	1	351	1	DSC3	18	28576872	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	25407999	28576872	49500376	68	54868											
SERPINB8	5271	broad.mit.edu	37	chr18	61649048	61649048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtgcaggaagcatataaatGactgggtggcagagaagact	15	7	14	5	0	0	3	0	1	0	2	0	5	0	4	0	3	2	3	0	3	5	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr18:61649048G>A	ENST00000397985.2	+	4	656	c.400G>A	c.(400-402)Gac>Aac	p.D134N	SERPINB8_ENST00000542677.1_5'UTR|SERPINB8_ENST00000397988.3_Missense_Mutation_p.D134N|SERPINB8_ENST00000353706.2_Missense_Mutation_p.D134N	NM_001276490.1	NP_001263419.1	P50452	SPB8_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 8	134					regulation of proteolysis	cytosol	protein binding|serine-type endopeptidase inhibitor activity			breast(2)|kidney(1)|large_intestine(4)|lung(9)|skin(1)	17		Esophageal squamous(42;0.129)				GCATATAAATGACTGGGTGGC	0.438													A	61649048	G	A	61649048	3	1	714	1	0	0	0	0	1	0	0	0	14200	1290	45	2	410	2	SERPINB8	18	61649048	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	33072176	61649048	16428200	69	54869											
REXO1	57455	broad.mit.edu	37	chr19	1827422	1827422	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttgtggggctcggccgccGcgctggccggtcaggcctcc	1	7	17	16	5	1	0	1	0	0	0	3	0	2	0	5	6	0	3	5	6	0	1			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:1827422G>A	ENST00000170168.4	-	2	1460	c.1366C>T	c.(1366-1368)Cgg>Tgg	p.R456W		NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	456						nucleus	exonuclease activity|nucleic acid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		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)		CTCGGCCGCCGCGCTGGCCGG	0.736													A	1827422	G	A	1827422	3	1	714	1	0	0	0	0	1	0	0	0	13329	1086	38	1	2359	1	REXO1	19	1827422	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		1827422	57301561	70	54870											
EMR2	30817	broad.mit.edu	37	chr19	14865794	14865794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cgtagtgggccatgaggacgGcaaagctgctcaggtgggtg	8	7	18	8	2	1	1	1	1	0	0	1	2	1	2	1	5	2	4	1	5	2	1	rs146763976		TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:14865794G>A	ENST00000315576.3	-	14	2013	c.1562C>T	c.(1561-1563)gCc>gTc	p.A521V	EMR2_ENST00000353876.1_Missense_Mutation_p.A428V|EMR2_ENST00000594076.1_Missense_Mutation_p.A428V|EMR2_ENST00000601345.1_Missense_Mutation_p.A510V|EMR2_ENST00000346057.1_Missense_Mutation_p.A472V|EMR2_ENST00000392964.3_Silent_p.C185C|EMR2_ENST00000596991.2_Missense_Mutation_p.A510V|EMR2_ENST00000595839.1_Missense_Mutation_p.A379V|EMR2_ENST00000392967.2_Missense_Mutation_p.A510V|EMR2_ENST00000353005.1_Missense_Mutation_p.A379V|EMR2_ENST00000392965.3_Intron|EMR2_ENST00000594294.1_Missense_Mutation_p.A472V	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	521	GPS.				cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity	p.A521V(1)		breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						CATGAGGACGGCAAAGCTGCT	0.572													A	14865794	G	A	14865794	3	1	714	1	0	0	0	0	1	0	0	0	5146	1203	42	2	941	2	EMR2	19	14865794	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	13038372	14865794	44263189	71	54871											
LPAR2	9170	broad.mit.edu	37	chr19	19737465	19737465	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgcacgtagaagaaaatgCgggtgtacacagccaccatg	13	5	12	11	3	0	2	0	0	0	2	0	2	0	2	3	1	3	3	3	1	5	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:19737465C>T	ENST00000542587.1	-	5	1531	c.629G>A	c.(628-630)cGc>cAc	p.R210H	LPAR2_ENST00000586703.1_Missense_Mutation_p.R210H|LPAR2_ENST00000407877.3_Missense_Mutation_p.R210H			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	210					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						GAAGAAAATGCGGGTGTACAC	0.622													T	19737465	C	T	19737465	3	4	714	1	0	0	0	0	1	0	0	0	8975	768	27	1	434	1	LPAR2	19	19737465	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4871671	19737465	39391518	72	54872											
CD22	933	broad.mit.edu	37	chr19	35835785	35835785	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggactcgggtcctgcctcGccatcctcatcctggcaatc	5	10	10	16	2	1	0	1	0	0	0	7	1	4	1	5	3	1	1	5	3	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:35835785G>A	ENST00000085219.5	+	10	2155	c.2089G>A	c.(2089-2091)Gcc>Acc	p.A697T	CD22_ENST00000419549.2_Missense_Mutation_p.A525T|CD22_ENST00000270311.6_Missense_Mutation_p.A577T|CD22_ENST00000594250.1_Missense_Mutation_p.A520T|CD22_ENST00000536635.2_Missense_Mutation_p.A609T|CD22_ENST00000544992.2_Missense_Mutation_p.A697T|CD22_ENST00000341773.6_Missense_Mutation_p.A520T	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	697					cell adhesion		protein binding|sugar binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		OspA lipoprotein(DB00045)	GTCCTGCCTCGCCATCCTCAT	0.627													A	35835785	G	A	35835785	3	1	714	1	0	0	0	0	1	0	0	0	3015	1087	38	1	2123	1	CD22	19	35835785	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	16098320	35835785	23293198	73	54873											
FBL	2091	broad.mit.edu	37	chr19	40331067	40331067	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactcaccctcatgccgatgCggctccaccatcacattctt	8	10	5	18	2	4	0	3	0	1	0	5	1	5	0	4	1	2	1	4	1	0	2			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:40331067C>T	ENST00000221801.3	-	3	383	c.270G>A	c.(268-270)ccG>ccA	p.P90P		NM_001436.3	NP_001427.2	P22087	FBRL_HUMAN	fibrillarin	90					rRNA processing|tRNA processing	box C/D snoRNP complex|Cajal body	methyltransferase activity|protein binding|RNA binding			endometrium(1)|kidney(1)|large_intestine(4)|lung(2)|ovary(1)	9	all_cancers(60;5.79e-06)|all_lung(34;5.2e-08)|Lung NSC(34;6.14e-08)|Ovarian(47;0.06)	Renal(1328;0.000518)|Hepatocellular(1079;0.0893)	Epithelial(26;5.74e-25)|OV - Ovarian serous cystadenocarcinoma(5;3.13e-24)|all cancers(26;8.59e-23)	GBM - Glioblastoma multiforme(1328;0.000826)|STAD - Stomach adenocarcinoma(1328;0.138)		CATGCCGATGCGGCTCCACCA	0.622													T	40331067	C	T	40331067	2	4	714	1	0	0	0	0	0	0	0	1	5745	755	27	1		1	FBL	19	40331067	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	4495282	40331067	18797916	74	54874											
SHANK1	50944	broad.mit.edu	37	chr19	51192618	51192618	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaggctgtcccccacccGgcaacccagacccaaacctc	11	3	7	20	1	0	2	0	0	0	2	2	2	1	2	6	2	2	2	6	2	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:51192618G>A	ENST00000391813.1	-	1	43	c.44C>T	c.(43-45)cCg>cTg	p.P15L	SHANK1_ENST00000359082.3_Intron|SHANK1_ENST00000293441.1_Intron|SHANK1_ENST00000391814.1_Intron			Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	1193					cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		TCCCCCACCCGGCAACCCAGA	0.572													A	51192618	G	A	51192618	3	1	714	1	0	0	0	0	1	0	0	0	14358	1131	39	1		1	SHANK1	19	51192618	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	10861551	51192618	7936365	75	54875											
ZNF347	84671	broad.mit.edu	37	chr19	53644511	53644511	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttgcaaggtgtgaattttGagtgaagaccttgccacatt	11	14	10	6	0	0	4	0	3	0	1	0	4	0	4	2	1	2	1	2	1	3	5			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr19:53644511G>C	ENST00000452676.2	-	5	1999	c.1573C>G	c.(1573-1575)Caa>Gaa	p.Q525E	ZNF347_ENST00000334197.7_Missense_Mutation_p.Q524E|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Missense_Mutation_p.Q525E	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	524					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTGAATTTTGAGTGAAGACC	0.408													C	53644511	G	C	53644511	3	2	714	1	0	0	0	0	1	0	0	0	17962	1299	45	4	953	4	ZNF347	19	53644511	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	2451893	53644511	5484472	76	54876											
BTBD3	22903	broad.mit.edu	37	chr20	11899098	11899100	+	In_Frame_Del	DEL	AAG	AAG	-																															taattaccttgaagactaaaAagaagaagatggctgctgat																										TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chr20:11899098_11899100delAAG	ENST00000405977.1	+	2	800_802	c.175_177delAAG	c.(175-177)aagdel	p.K61del	RP4-742J24.2_ENST00000439529.1_RNA|BTBD3_ENST00000378226.2_In_Frame_Del_p.K61del|BTBD3_ENST00000254977.3_5'UTR|BTBD3_ENST00000399006.2_5'UTR	NM_001282550.1|NM_001282552.1|NM_001282554.1	NP_001269479.1|NP_001269481.1|NP_001269483.1	Q9Y2F9	BTBD3_HUMAN	BTB (POZ) domain containing 3	61										breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(18)|ovary(3)|skin(2)	34						GAAGACTAAAAAGAAGAAGATGG	0.453													-	11899100	AAG	-	11899098	7	5	714	1	0	1	0	1	0	0	0	0	1554	15	1	0	177	0	BTBD3	20	11899098	In_Frame_Del	DEL	AAG	TCGA-S9-A6WM-01A-12D-A33T-08		11899098	51126422	77	54877											
SPIN4	139886	broad.mit.edu	37	chrX	62570231	62570231	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagagaacaggatctttctcGtaggtgatgtaaaaccaagt	14	11	10	6	1	2	2	0	1	2	1	3	4	2	3	1	2	2	2	1	2	6	4			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:62570231G>A	ENST00000374884.2	-	1	992	c.414C>T	c.(412-414)taC>taT	p.Y138Y	SPIN4_ENST00000335144.3_Silent_p.Y156Y|SPIN4-AS1_ENST00000451979.1_RNA			Q56A73	SPIN4_HUMAN	spindlin family, member 4	156					gamete generation					endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	11						GATCTTTCTCGTAGGTGATGT	0.448													A	62570231	G	A	62570231	2	1	714	1	0	0	0	0	0	0	0	1	15152	1140	40	1		1	SPIN4	23	62570231	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08		62570231	92700329	78	54878											
P2RY4	5030	broad.mit.edu	37	chrX	69478764	69478764	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagagcggaggcgagaagaCgactgtgcagagcctggcaa	13	3	17	8	3	0	4	0	0	0	4	0	8	0	5	1	3	3	2	1	3	2	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:69478764C>T	ENST00000374519.2	-	1	890	c.711G>A	c.(709-711)tcG>tcA	p.S237S		NM_002565.3	NP_002556.1	P51582	P2RY4_HUMAN	pyrimidinergic receptor P2Y, G-protein coupled, 4	237					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			cervix(2)|endometrium(2)|large_intestine(8)|lung(6)	18						GGCGAGAAGACGACTGTGCAG	0.577													T	69478764	C	T	69478764	2	4	714	1	0	0	0	0	0	0	0	1	11429	523	19	1		1	P2RY4	23	69478764	Silent	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	6908533	69478764	85791796	79	54879											
MAGEE1	57692	broad.mit.edu	37	chrX	75648839	75648839	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccacccctggtgagggaacGagcacctccgtgccgcccac	7	4	11	19	3	0	1	0	1	0	0	1	3	1	2	7	2	3	1	7	2	1	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:75648839G>A	ENST00000361470.2	+	1	794	c.516G>A	c.(514-516)acG>acA	p.T172T		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	172	Pro-rich.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						GTGAGGGAACGAGCACCTCCG	0.682													A	75648839	G	A	75648839	2	1	714	1	0	0	0	0	0	0	0	1	9260	1045	37	1		1	MAGEE1	23	75648839	Silent	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	6170075	75648839	79621721	80	54880											
ARMCX5	64860	broad.mit.edu	37	chrX	101858274	101858274	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtttgtaaaggcataatctCttgccccttgaactcccctg	9	13	7	12	0	1	1	0	1	1	0	3	1	2	1	4	1	2	3	4	1	4	5			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:101858274C>A	ENST00000604957.1	+	1	3827	c.1205C>A	c.(1204-1206)tCt>tAt	p.S402Y	ARMCX5_ENST00000372742.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000541409.1_Missense_Mutation_p.S402Y|RP4-769N13.6_ENST00000476910.2_RNA|ARMCX5_ENST00000537008.1_Missense_Mutation_p.S402Y|ARMCX5_ENST00000246174.2_Missense_Mutation_p.S402Y|ARMCX5_ENST00000536530.1_Missense_Mutation_p.S402Y|RP4-769N13.7_ENST00000602441.1_RNA	NM_001168478.1	NP_001161950.1	Q6P1M9	ARMX5_HUMAN	armadillo repeat containing, X-linked 5	402							binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	22						GGCATAATCTCTTGCCCCTTG	0.423													A	101858274	C	A	101858274	3	1	714	1	0	0	0	0	1	0	0	0	967	913	32	4	1207	4	ARMCX5	23	101858274	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	26209435	101858274	53412286	81	54881											
RNF128	79589	broad.mit.edu	37	chrX	105937249	105937249	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgaaccaggagaataGgtccagttttttttggctcc	11	12	10	8	0	0	2	0	1	0	1	2	3	2	2	3	3	2	3	3	3	4	5			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:105937249G>T	ENST00000324342.3	+	1	182	c.17G>T	c.(16-18)aGg>aTg	p.R6M		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0						endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						CAGGAGAATAGGTCCAGTTTT	0.348													T	105937249	G	T	105937249	3	4	714	1	0	0	0	0	1	0	0	0	13527	1000	35	4	19	4	RNF128	23	105937249	Missense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	4078975	105937249	49333311	82	54882											
CUL4B	8450	broad.mit.edu	37	chrX	119677613	119677613	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctaagtaagtaataagtcTgtctgcttcttcttctagac	11	16	6	8	0	6	1	0	0	6	1	6	1	6	1	0	0	1	3	0	0	5	8			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:119677613T>A	ENST00000371322.5	-	8	1286	c.1225A>T	c.(1225-1227)Aga>Tga	p.R409*	CUL4B_ENST00000404115.3_Nonsense_Mutation_p.R427*|CUL4B_ENST00000336592.6_Nonsense_Mutation_p.R414*	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	427					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						GTAATAAGTCTGTCTGCTTCT	0.353													A	119677613	T	A	119677613	4	1	714	1	0	0	0	0	0	1	0	0	4091	1588	55	5	1514	5	CUL4B	23	119677613	Nonsense_Mutation	SNP	T	TCGA-S9-A6WM-01A-12D-A33T-08	13740364	119677613	35592947	83	54883											
SAGE1	55511	broad.mit.edu	37	chrX	134989501	134989501	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcacaatgtctgtgaaGagaagatggaaaatgaccaa	16	8	9	8	0	2	4	1	2	1	2	3	6	3	5	2	1	0	0	2	1	6	0			TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:134989501G>T	ENST00000535938.1	+	9	1074	c.907G>T	c.(907-909)Gag>Tag	p.E303*	SAGE1_ENST00000370709.3_Nonsense_Mutation_p.E303*|SAGE1_ENST00000537770.1_Intron|SAGE1_ENST00000324447.3_Nonsense_Mutation_p.E303*	NM_018666.2	NP_061136.2	Q9NXZ1	SAGE1_HUMAN	sarcoma antigen 1	303										breast(5)|endometrium(5)|large_intestine(10)|lung(23)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	55	Acute lymphoblastic leukemia(192;0.000127)					TGTCTGTGAAGAGAAGATGGA	0.428													T	134989501	G	T	134989501	4	4	714	1	0	0	0	0	0	1	0	0	13900	943	33	4	937	4	SAGE1	23	134989501	Nonsense_Mutation	SNP	G	TCGA-S9-A6WM-01A-12D-A33T-08	15311888	134989501	20281059	84	54884											
SLITRK4	139065	broad.mit.edu	37	chrX	142717979	142717979	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagagggctttgcctgcaaCgattccagagatcttggaag	10	9	14	8	1	1	2	0	0	1	2	2	6	2	3	2	3	3	2	2	3	2	3	rs142699085	byFrequency	TCGA-S9-A6WM-01A-12D-A33T-08	TCGA-S9-A6WM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe1567be-1cc2-4ee2-a3fa-44c4a4d5b643	7710113a-645a-4c0c-a3a4-48eb1885b66d	g.chrX:142717979C>T	ENST00000381779.4	-	2	1171	c.946G>A	c.(946-948)Gtt>Att	p.V316I	SLITRK4_ENST00000356928.1_Missense_Mutation_p.V316I|SLITRK4_ENST00000338017.4_Missense_Mutation_p.V316I	NM_001184749.2|NM_001184750.1|NM_173078.4	NP_001171678.1|NP_001171679.1|NP_775101.1	Q8IW52	SLIK4_HUMAN	SLIT and NTRK-like family, member 4	316						integral to membrane				autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(11)|lung(27)|ovary(2)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	60	Acute lymphoblastic leukemia(192;6.56e-05)					TTGCCTGCAACGATTCCAGAG	0.473													T	142717979	C	T	142717979	3	4	714	1	0	0	0	0	1	0	0	0	14839	536	19	1	1571	1	SLITRK4	23	142717979	Missense_Mutation	SNP	C	TCGA-S9-A6WM-01A-12D-A33T-08	7728478	142717979	12552581	85	54885											
ASTN1	460	broad.mit.edu	37	chr1	176915088	176915088	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttcctttcagcacctgtccGgcagccacttccttggaatg	6	12	9	14	1	1	0	1	0	0	0	4	1	4	1	5	2	2	3	5	2	1	4	rs138093855		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:176915088G>A	ENST00000367654.3	-	13	2458	c.2247C>T	c.(2245-2247)gcC>gcT	p.A749A	ASTN1_ENST00000361833.2_Silent_p.A741A|ASTN1_ENST00000281881.3_5'UTR|ASTN1_ENST00000424564.2_Silent_p.A741A|ASTN1_ENST00000367657.3_Silent_p.A741A	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1						cell migration|neuron cell-cell adhesion	integral to membrane				NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GCACCTGTCCGGCAGCCACTT	0.463													A	176915088	G	A	176915088	2	1	715	1	0	0	0	0	0	0	0	1	1069	1103	39	1		1	ASTN1	1	176915088	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		176915088	72335533	1	54886											
ZNF281	23528	broad.mit.edu	37	chr1	200376612	200376614	+	In_Frame_Del	DEL	AAC	AAC	-																															aaagacctggctgagatccaAacaacatcccaaaaggaggc																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:200376612_200376614delAAC	ENST00000294740.3	-	2	2344_2346	c.2220_2222delGTT	c.(2218-2223)ttgttt>ttt	p.L740del	ZNF281_ENST00000367352.3_In_Frame_Del_p.L704del|ZNF281_ENST00000367353.1_In_Frame_Del_p.L740del	NM_001281293.1|NM_001281294.1|NM_012482.4	NP_001268222.1|NP_001268223.1|NP_036614.1	Q9Y2X9	ZN281_HUMAN	zinc finger protein 281						negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	27						CTGAGATCCAAACAACATCCCAA	0.443													-	200376614	AAC	-	200376612	7	5	715	1	0	1	0	1	0	0	0	0	17919	14	1	0	469	0	ZNF281	1	200376612	In_Frame_Del	DEL	AAC	TCGA-S9-A6WN-01A-12D-A33T-08	23461524	200376612	48874009	2	54887											
CR2	1380	broad.mit.edu	37	chr1	207639979	207639979	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttgttcaggtaccttccGcctcattggagaaaaaagtc	11	11	9	10	1	2	1	2	0	0	1	4	2	3	1	3	2	1	3	3	2	4	5			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:207639979G>A	ENST00000367057.3	+	2	356	c.167G>A	c.(166-168)cGc>cAc	p.R56H	CR2_ENST00000367059.3_Missense_Mutation_p.R56H|CR2_ENST00000458541.2_Missense_Mutation_p.R56H|CR2_ENST00000367058.3_Missense_Mutation_p.R56H	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	56	Sushi 1.				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GGTACCTTCCGCCTCATTGGA	0.408													A	207639979	G	A	207639979	3	1	715	1	0	0	0	0	1	0	0	0	3873	1087	38	1	173	1	CR2	1	207639979	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	7263367	207639979	41610642	3	54888											
CDC42BPA	8476	broad.mit.edu	37	chr1	227218139	227218141	+	In_Frame_Del	DEL	CTT	CTT	-																															gacatgtacaacaaataaccCttcttcgtttcccaaagcaa																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr1:227218139_227218141delCTT	ENST00000366769.3	-	28	4992_4994	c.3701_3703delAAG	c.(3700-3705)gaaggg>ggg	p.E1234del	CDC42BPA_ENST00000535525.1_In_Frame_Del_p.E1214del|CDC42BPA_ENST00000366766.2_In_Frame_Del_p.E1269del|CDC42BPA_ENST00000366765.3_In_Frame_Del_p.E1247del|CDC42BPA_ENST00000334218.5_In_Frame_Del_p.E1234del|CDC42BPA_ENST00000366767.3_In_Frame_Del_p.E1153del|CDC42BPA_ENST00000366764.2_In_Frame_Del_p.E1206del	NM_003607.3	NP_003598.2	Q5VT25	MRCKA_HUMAN	CDC42 binding protein kinase alpha (DMPK-like)	1247	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|cell-cell junction|cytoplasm	ATP binding|identical protein binding|magnesium ion binding|protein serine/threonine kinase activity|small GTPase regulator activity	p.E1234D(1)|p.E1153D(1)|p.E1269D(1)		NS(1)|breast(4)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(12)|lung(32)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|urinary_tract(2)	77		all_cancers(173;0.156)|Prostate(94;0.0792)				ACAAATAACCCTTCTTCGTTTCC	0.276													-	227218141	CTT	-	227218139	7	5	715	1	0	1	0	1	0	0	0	0	3102	681	24	0	1492	0	CDC42BPA	1	227218139	In_Frame_Del	DEL	CTT	TCGA-S9-A6WN-01A-12D-A33T-08	19578160	227218139	22032482	4	54889											
C2orf42	54980	broad.mit.edu	37	chr2	70408448	70408450	+	In_Frame_Del	DEL	AGA	AGA	-																															tttcagagtctgacaggagcAgaagaagcggcgctcaggca																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:70408448_70408450delAGA	ENST00000264434.2	-	3	1047_1049	c.668_670delTCT	c.(667-672)ttctgc>tgc	p.F223del	C2orf42_ENST00000420306.1_In_Frame_Del_p.F223del	NM_017880.1	NP_060350.1	Q9NWW7	CB042_HUMAN	chromosome 2 open reading frame 42	223										endometrium(2)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(1)	12						TGACAGGAGCAGAAGAAGCGGCG	0.488													-	70408450	AGA	-	70408448	7	5	715	1	0	1	0	1	0	0	0	0	2187	188	7	0	1086	0	C2orf42	2	70408448	In_Frame_Del	DEL	AGA	TCGA-S9-A6WN-01A-12D-A33T-08		70408448	172790925	5	54890											
SCN3A	6328	broad.mit.edu	37	chr2	165953004	165953004	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcaacagctgcatacatAatatccatccagcctttaaa	16	10	4	11	0	1	0	1	0	0	0	3	1	3	0	3	0	5	2	3	0	7	5			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:165953004A>C	ENST00000360093.3	-	24	4757	c.4266T>G	c.(4264-4266)atT>atG	p.I1422M	SCN3A_ENST00000409101.3_Missense_Mutation_p.I1373M|SCN3A_ENST00000283254.7_Missense_Mutation_p.I1422M	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	1422						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	CTGCATACATAATATCCATCC	0.299													C	165953004	A	C	165953004	3	2	715	1	0	0	0	0	1	0	0	0	14011	358	13	5	1756	5	SCN3A	2	165953004	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	95544556	165953004	77246369	6	54891											
TTN	7273	broad.mit.edu	37	chr2	179444038	179444038	+	Frame_Shift_Del	DEL	G	G	-																															ggagctggcttgccttttatGgggatcttaagccggaagtt																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179444038delG	ENST00000589042.1	-	320	67943	c.67719delC	c.(67717-67719)cccfs	p.P22573fs	TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000460472.2_Frame_Shift_Del_p.P13508fs|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Frame_Shift_Del_p.P13700fs|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Frame_Shift_Del_p.P20005fs|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000591111.1_Frame_Shift_Del_p.P20932fs|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000359218.5_Frame_Shift_Del_p.P13633fs|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586707.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	20932	Fibronectin type-III 63.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGCCTTTTATGGGGATCTTAA	0.453													-	179444038	G	-	179444038	7	5	715	1	0	1	0	1	0	0	0	0	16837	1335	47	0	40432	0	TTN	2	179444038	Frame_Shift_Del	DEL	G	TCGA-S9-A6WN-01A-12D-A33T-08	13491034	179444038	63755335	7	54892											
TTN	7273	broad.mit.edu	37	chr2	179516426	179516426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tagttcaggttttttggcaaCgacagcaggtgctttctttt	7	17	10	7	1	2	0	1	0	1	0	2	1	2	0	0	3	3	5	0	3	2	8			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:179516426C>T	ENST00000589042.1	-	206	39654	c.39430G>A	c.(39430-39432)Gtt>Att	p.V13144I	TTN_ENST00000342992.6_Missense_Mutation_p.V10710I|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V11637I|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000585451.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11497	Ig-like 87.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTGGCAACGACAGCAGGT	0.398													T	179516426	C	T	179516426	3	4	715	1	0	0	0	0	1	0	0	0	16837	536	19	1	68469	1	TTN	2	179516426	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	72388	179516426	63682947	8	54893											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	715	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	29596686	209113112	34086261	9	54894											
COL6A3	1293	broad.mit.edu	37	chr2	238270426	238270426	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgcggtctcccctctgccCagagcacttgcagggaaccc	6	6	10	19	2	2	1	0	0	2	1	3	2	2	2	5	2	4	2	5	2	1	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr2:238270426C>T	ENST00000295550.4	-	15	6564	c.6112G>A	c.(6112-6114)Ggg>Agg	p.G2038R	COL6A3_ENST00000409809.1_Missense_Mutation_p.G1832R|COL6A3_ENST00000472056.1_Missense_Mutation_p.G1431R|COL6A3_ENST00000353578.4_Missense_Mutation_p.G1832R|COL6A3_ENST00000346358.4_Missense_Mutation_p.G1838R|COL6A3_ENST00000347401.3_Missense_Mutation_p.G1837R	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	2038	Collagen-like 1.|Nonhelical region.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CCCCTCTGCCCAGAGCACTTG	0.567													T	238270426	C	T	238270426	3	4	715	1	0	0	0	0	1	0	0	0	3732	594	21	2	3541	2	COL6A3	2	238270426	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	29157314	238270426	4928947	10	54895											
TRAK1	22906	broad.mit.edu	37	chr3	42264535	42264535	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gagactgagcctggctgagtCcttcactaacacccgtgagt	9	9	11	12	1	1	4	1	3	0	1	2	5	2	4	3	1	2	1	3	1	1	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:42264535C>A	ENST00000327628.5	+	16	2568	c.2168C>A	c.(2167-2169)tCc>tAc	p.S723Y	TRAK1_ENST00000487159.1_3'UTR|TRAK1_ENST00000396175.1_Missense_Mutation_p.S665Y	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	723					endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						CTGGCTGAGTCCTTCACTAAC	0.607													A	42264535	C	A	42264535	3	1	715	1	0	0	0	0	1	0	0	0	16550	855	30	4	2618	4	TRAK1	3	42264535	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08		42264535	155757895	11	54896											
SACM1L	22908	broad.mit.edu	37	chr3	45751042	45751042	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccatgtcttgaatgtggAtggattttacttttcaacaa	13	15	7	6	0	2	1	1	1	1	0	2	3	2	3	1	2	3	0	1	2	5	5			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:45751042A>G	ENST00000389061.5	+	5	590	c.386A>G	c.(385-387)gAt>gGt	p.D129G	SACM1L_ENST00000541314.1_Missense_Mutation_p.D68G|SACM1L_ENST00000464524.1_3'UTR|SACM1L_ENST00000418611.1_Missense_Mutation_p.D26G	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	129	SAC.					Golgi apparatus				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		TTGAATGTGGATGGATTTTAC	0.353													G	45751042	A	G	45751042	3	3	715	1	0	0	0	0	1	0	0	0	13894	333	12	3	404	3	SACM1L	3	45751042	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	3486507	45751042	152271388	12	54897											
PIK3CA	5290	broad.mit.edu	37	chr3	178927980	178927980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgttttttaaggaacacTgtccattggcatggggaaat	10	15	10	6	0	0	0	0	0	0	0	1	2	1	2	1	4	1	2	1	4	3	5	rs121913272		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:178927980T>C	ENST00000263967.3	+	8	1415	c.1258T>C	c.(1258-1260)Tgt>Cgt	p.C420R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	420	C2 PI3K-type.		C -> R (in cancer; shows an increase in lipid kinase activity; may increase the affinity for lipid membranes).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.C420R(40)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAAGGAACACTGTCCATTGGC	0.328	C420R(CCK81_LARGE_INTESTINE)|C420R(EFM192A_BREAST)|C420R(HEC151_ENDOMETRIUM)|C420R(OVISE_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			C	178927980	T	C	178927980	3	2	715	1	0	0	0	0	1	0	0	0	11990	1580	55	3	1284	3	PIK3CA	3	178927980	Missense_Mutation	SNP	T	TCGA-S9-A6WN-01A-12D-A33T-08	133176938	178927980	19094450	13	54898											
MUC4	4585	broad.mit.edu	37	chr3	195513519	195513519	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatgaagaggggtggcgtgAcctgtggataatgaggaagc	12	7	17	5	1	0	4	0	3	0	1	0	6	0	6	1	5	1	0	1	5	3	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr3:195513519A>T	ENST00000463781.3	-	2	5391	c.4932T>A	c.(4930-4932)ggT>ggA	p.G1644G	MUC4_ENST00000475231.1_Silent_p.G1644G|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	428	VWFD.				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	p.N1637_T1652delNASSLSTGHATPLHVT(2)|p.G1644G(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		GGGTGGCGTGACCTGTGGATA	0.587													T	195513519	A	T	195513519	2	4	715	1	0	0	0	0	0	0	0	1	10054	262	10	5		5	MUC4	3	195513519	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	16585539	195513519	2508911	14	54899											
FRAS1	80144	broad.mit.edu	37	chr4	79387504	79387504	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggtcagctacagccatgacgGcagtaactccctcaaggacc	11	6	10	14	1	2	1	2	1	0	0	3	2	3	2	3	3	4	3	3	3	3	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr4:79387504G>A	ENST00000264895.6	+	50	7612	c.7172G>A	c.(7171-7173)gGc>gAc	p.G2391D		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	2390					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						AGCCATGACGGCAGTAACTCC	0.532													A	79387504	G	A	79387504	3	1	715	1	0	0	0	0	1	0	0	0	6093	1203	42	2	7445	2	FRAS1	4	79387504	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		79387504	111766772	15	54900											
SKIV2L2	23517	broad.mit.edu	37	chr5	54654435	54654435	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atacattcagatgtctggtcGtgctggaaggagaggaatgg	11	10	15	5	1	2	2	1	0	1	2	3	5	2	4	0	5	2	1	0	5	3	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:54654435G>A	ENST00000230640.5	+	15	1822	c.1568G>A	c.(1567-1569)cGt>cAt	p.R523H	SKIV2L2_ENST00000545714.1_Missense_Mutation_p.R422H	NM_015360.4	NP_056175.3	P42285	SK2L2_HUMAN	superkiller viralicidic activity 2-like 2 (S. cerevisiae)	523	Helicase C-terminal.				maturation of 5.8S rRNA	catalytic step 2 spliceosome|nucleolus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|protein binding	p.R523H(1)|p.R523P(1)		NS(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(5)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Lung NSC(810;0.000744)|Breast(144;0.181)|Prostate(74;0.194)				ATGTCTGGTCGTGCTGGAAGG	0.323													A	54654435	G	A	54654435	3	1	715	1	0	0	0	0	1	0	0	0	14454	1145	40	1	1626	1	SKIV2L2	5	54654435	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		54654435	126260825	16	54901											
WDR55	54853	broad.mit.edu	37	chr5	140048330	140048330	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcaacatgaagagtacatcGcagacatggctctggatcca	13	7	11	10	1	1	3	0	1	1	2	3	4	2	4	1	3	2	4	1	3	3	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr5:140048330G>A	ENST00000358337.5	+	4	751	c.514G>A	c.(514-516)Gca>Aca	p.A172T		NM_017706.4	NP_060176	Q9H6Y2	WDR55_HUMAN	WD repeat domain 55	172					rRNA processing	cytoplasm|nucleolus				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGAGTACATCGCAGACATGGC	0.542													A	140048330	G	A	140048330	3	1	715	1	0	0	0	0	1	0	0	0	17409	1087	38	1	528	1	WDR55	5	140048330	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	85393895	140048330	40866930	17	54902											
TRERF1	55809	broad.mit.edu	37	chr6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-																															caaaagccgccttctgagccTtttgcctctgttgttcctcc																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:42196333delT	ENST00000541110.1	-	18	3981	c.3413delA	c.(3412-3414)aagfs	p.K1138fs	TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs			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													-	42196333	T	-	42196333	7	5	715	1	0	1	0	1	0	0	0	0	16576	1609	56	0	253	0	TRERF1	6	42196333	Frame_Shift_Del	DEL	T	TCGA-S9-A6WN-01A-12D-A33T-08		42196333	128918734	18	54903											
ZNF318	24149	broad.mit.edu	37	chr6	43305258	43305261	+	Frame_Shift_Del	DEL	AATT	AATT	-																															agatggcccaaggcctgcagAattaattgtttttaattcca																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:43305258_43305261delAATT	ENST00000361428.2	-	10	6552_6555	c.6475_6478delAATT	c.(6475-6480)aattctfs	p.NS2159fs	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2159					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			AGGCCTGCAGAATTAATTGTTTTT	0.446													-	43305261	AATT	-	43305258	7	5	715	1	0	1	0	1	0	0	0	0	17937	246	9	0	365	0	ZNF318	6	43305258	Frame_Shift_Del	DEL	AATT	TCGA-S9-A6WN-01A-12D-A33T-08	1108925	43305258	127809809	19	54904											
THBS2	7058	broad.mit.edu	37	chr6	169622399	169622399	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccggagtagccataggcccGcgtgggctggtcctcccagt	5	7	15	14	3	0	0	0	0	0	0	2	1	2	1	5	4	1	2	5	4	2	2	rs141219768		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr6:169622399G>A	ENST00000366787.3	-	20	3415	c.3166C>T	c.(3166-3168)Cgg>Tgg	p.R1056W	THBS2_ENST00000488355.1_5'UTR|XXyac-YX65C7_A.2_ENST00000444188.1_RNA	NM_003247.2	NP_003238.2	P35442	TSP2_HUMAN	thrombospondin 2	1056	TSP C-terminal.				cell adhesion	extracellular region	calcium ion binding|heparin binding|protein binding|structural molecule activity			NS(3)|biliary_tract(1)|endometrium(8)|kidney(3)|large_intestine(23)|liver(1)|lung(56)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	111		Breast(66;1.78e-05)|Ovarian(120;0.0728)|Esophageal squamous(34;0.247)		OV - Ovarian serous cystadenocarcinoma(33;1.85e-21)|BRCA - Breast invasive adenocarcinoma(81;1.43e-06)|GBM - Glioblastoma multiforme(31;0.000379)		CCATAGGCCCGCGTGGGCTGG	0.632													A	169622399	G	A	169622399	3	1	715	1	0	0	0	0	1	0	0	0	15954	1086	38	1	368	1	THBS2	6	169622399	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	126317141	169622399	1492668	20	54905											
EGFR	1956	broad.mit.edu	37	chr7	55260505	55260505	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaattttacacagaatctAtacccaccagagtgatgtct	14	12	5	10	0	3	3	1	1	2	2	3	3	3	3	2	0	2	0	2	0	5	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:55260505A>G	ENST00000275493.2	+	22	2849	c.2672A>G	c.(2671-2673)tAt>tGt	p.Y891C	EGFR_ENST00000454757.2_Missense_Mutation_p.Y838C|EGFR_ENST00000455089.1_Missense_Mutation_p.Y846C|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	891	Protein kinase.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	CACAGAATCTATACCCACCAG	0.428		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55260505	A	G	55260505	3	3	715	1	0	0	0	0	1	0	0	0	5006	449	16	3	3022	3	EGFR	7	55260505	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		55260505	103878158	21	54906											
WBSCR22	114049	broad.mit.edu	37	chr7	73098135	73098135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccggaaatacgttcgcaaGtgaggggagcctgaatactg	11	7	14	9	3	0	2	0	2	0	0	1	4	0	4	2	3	3	2	2	3	5	3	rs111971609		TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr7:73098135G>A	ENST00000423166.2	+	2	106	c.59G>A	c.(58-60)aGt>aAt	p.S20N	WBSCR22_ENST00000423497.1_Splice_Site|WBSCR22_ENST00000464615.1_Intron|WBSCR22_ENST00000265758.2_Splice_Site			O43709	WBS22_HUMAN	Williams Beuren syndrome chromosome region 22	0						nucleus	methyltransferase activity			autonomic_ganglia(1)|large_intestine(2)|lung(9)|prostate(1)	13		Lung NSC(55;0.0908)|all_lung(88;0.198)				ACGTTCGCAAGTGAGGGGAGC	0.572													A	73098135	G	A	73098135	3	1	715	1	0	0	0	0	1	0	0	0	17367	1043	36	2	93	2	WBSCR22	7	73098135	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	17837630	73098135	86040528	22	54907											
CSMD3	114788	broad.mit.edu	37	chr8	113420579	113420579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgaaatcccttagctgttAttggtccaactgaagtaaat	13	13	8	7	0	0	2	0	2	0	0	2	2	2	2	2	1	2	3	2	1	7	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr8:113420579A>G	ENST00000297405.5	-	34	5817	c.5573T>C	c.(5572-5574)aTa>aCa	p.I1858T	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1818T|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1754T|CSMD3_ENST00000352409.3_Intron	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1858	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTTAGCTGTTATTGGTCCAAC	0.348										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113420579	A	G	113420579	3	3	715	1	0	0	0	0	1	0	0	0	3979	449	16	3	5702	3	CSMD3	8	113420579	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		113420579	32943443	23	54908											
LINGO2	158038	broad.mit.edu	37	chr9	27949432	27949432	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgcaacttcttttcaCggattttgggttttttgcag	6	18	10	7	1	2	0	1	0	1	0	2	2	2	1	0	2	4	4	0	2	1	8			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:27949432C>T	ENST00000379992.2	-	6	1687	c.1238G>A	c.(1237-1239)cGt>cAt	p.R413H	LINGO2_ENST00000308675.3_Missense_Mutation_p.R413H	NM_152570.2	NP_689783.1	Q7L985	LIGO2_HUMAN	leucine rich repeat and Ig domain containing 2	413	Ig-like C2-type.					integral to membrane		p.R413H(2)		autonomic_ganglia(1)|breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(13)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	44	Melanoma(11;0.242)	all_neural(11;2.78e-09)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0818)|GBM - Glioblastoma multiforme(2;1.31e-34)|all cancers(2;2.37e-25)|Lung(2;7.48e-08)|LUSC - Lung squamous cell carcinoma(38;5.09e-07)|KIRC - Kidney renal clear cell carcinoma(2;0.0465)|Kidney(2;0.0604)		CTTCTTTTCACGGATTTTGGG	0.488													T	27949432	C	T	27949432	3	4	715	1	0	0	0	0	1	0	0	0	8876	536	19	1	586	1	LINGO2	9	27949432	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08		27949432	113263999	24	54909											
FCN1	2219	broad.mit.edu	37	chr9	137809638	137809638	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacatgtgtccgcagcctggGcaggcaggttcttgatatgc	7	10	14	10	1	1	1	0	1	1	0	2	2	2	1	2	3	2	4	2	3	1	3			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr9:137809638G>A	ENST00000371806.3	-	1	171	c.80C>T	c.(79-81)gCc>gTc	p.A27V		NM_002003.3	NP_001994.2	O00602	FCN1_HUMAN	ficolin (collagen/fibrinogen domain containing) 1	27					opsonization|signal transduction	collagen|extracellular space	antigen binding|calcium ion binding|receptor binding|sugar binding			endometrium(3)|kidney(3)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	37		Myeloproliferative disorder(178;0.0333)		OV - Ovarian serous cystadenocarcinoma(145;3.46e-08)|Epithelial(140;6.01e-08)|all cancers(34;3.69e-07)		CGCAGCCTGGGCAGGCAGGTT	0.582													A	137809638	G	A	137809638	3	1	715	1	0	0	0	0	1	0	0	0	5840	1203	42	2	936	2	FCN1	9	137809638	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	109860206	137809638	3403793	25	54910											
ENTPD7	57089	broad.mit.edu	37	chr10	101458364	101458364	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcctgccagtgggactcacaGatgtggtggagaggaacagc	10	6	16	9	0	1	2	1	0	0	2	1	5	1	4	2	4	3	0	2	4	1	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr10:101458364G>A	ENST00000370489.4	+	10	1262	c.1084G>A	c.(1084-1086)Gat>Aat	p.D362N		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	362						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		GGGACTCACAGATGTGGTGGA	0.537													A	101458364	G	A	101458364	3	1	715	1	0	0	0	0	1	0	0	0	5185	942	33	2	1118	2	ENTPD7	10	101458364	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		101458364	34076383	26	54911											
OR9Q1	219956	broad.mit.edu	37	chr11	57947730	57947730	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcttcggagaagaatcggGtagtgtctgtgctttacaca	10	12	12	7	2	2	2	0	0	2	2	4	3	2	2	0	2	2	2	0	2	4	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:57947730G>T	ENST00000335397.3	+	3	1130	c.814G>T	c.(814-816)Gta>Tta	p.V272L		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	272					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				GAAGAATCGGGTAGTGTCTGT	0.488													T	57947730	G	T	57947730	3	4	715	1	0	0	0	0	1	0	0	0	11331	1261	44	4	816	4	OR9Q1	11	57947730	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		57947730	77058786	27	54912											
RAD9A	5883	broad.mit.edu	37	chr11	67159688	67159688	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggacgagctctacctggaaCccttggaggacggggtgagg	8	6	18	9	2	1	1	0	1	1	0	1	6	1	5	2	7	3	1	2	7	2	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:67159688C>A	ENST00000307980.2	+	2	184	c.91C>A	c.(91-93)Ccc>Acc	p.P31T		NM_001243224.1|NM_004584.2	NP_001230153.1|NP_004575.1	Q99638	RAD9A_HUMAN	RAD9 homolog A (S. pombe)	31					DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint	nucleoplasm	3'-5' exonuclease activity|exodeoxyribonuclease III activity|histone deacetylase binding|protein kinase binding|SH3 domain binding			lung(7)|upper_aerodigestive_tract(1)	8			BRCA - Breast invasive adenocarcinoma(15;8.53e-07)			CTACCTGGAACCCTTGGAGGA	0.701								Other conserved DNA damage response genes					A	67159688	C	A	67159688	3	1	715	1	0	0	0	0	1	0	0	0	13083	507	18	4	97	4	RAD9A	11	67159688	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	9211958	67159688	67846828	28	54913											
HTR3A	3359	broad.mit.edu	37	chr11	113856763	113856763	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acatcaacatctctttgtggCgcttgccagaaaaggtgaaa	13	10	9	9	1	2	2	1	1	1	1	3	2	2	2	1	2	2	1	1	2	4	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:113856763C>T	ENST00000504030.2	+	6	1016	c.571C>T	c.(571-573)Cgc>Tgc	p.R191C	HTR3A_ENST00000375498.2_Missense_Mutation_p.R197C|HTR3A_ENST00000355556.2_Missense_Mutation_p.R197C|HTR3A_ENST00000535865.1_Intron|HTR3A_ENST00000299961.5_Missense_Mutation_p.R176C|HTR3A_ENST00000506841.2_Missense_Mutation_p.R191C			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	191					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity	p.R191G(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	CTCTTTGTGGCGCTTGCCAGA	0.527													T	113856763	C	T	113856763	3	4	715	1	0	0	0	0	1	0	0	0	7502	768	27	1	637	1	HTR3A	11	113856763	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	46697075	113856763	21149753	29	54914											
TMEM225	338661	broad.mit.edu	37	chr11	123756083	123756083	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ttaagactacggcccaggagGagaaaagtatgttcataccc	14	8	10	9	1	1	2	1	0	0	2	1	4	1	3	2	3	2	2	2	3	6	5			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr11:123756083G>A	ENST00000375026.2	-	1	266	c.50C>T	c.(49-51)tCc>tTc	p.S17F		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	17						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGCCCAGGAGGAGAAAAGTAT	0.408													A	123756083	G	A	123756083	3	1	715	1	0	0	0	0	1	0	0	0	16247	1174	41	2	643	2	TMEM225	11	123756083	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	9899320	123756083	11250433	30	54915											
SLCO1B3	28234	broad.mit.edu	37	chr12	21028267	21028267	+	Frame_Shift_Del	DEL	T	T	-																															ccattatttcttccataccaTtttttttcttgccgaaaaat																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:21028267delT	ENST00000381545.3	+	9	1045	c.826delT	c.(826-828)tttfs	p.F278fs	LST3_ENST00000540229.1_Frame_Shift_Del_p.F278fs|LST3_ENST00000381541.3_Intron|SLCO1B3_ENST00000261196.2_Frame_Shift_Del_p.F278fs|SLCO1B3_ENST00000553473.1_Frame_Shift_Del_p.F278fs|SLCO1B7_ENST00000554957.1_Intron	NM_019844.3	NP_062818.1	Q9NPD5	SO1B3_HUMAN	solute carrier organic anion transporter family, member 1B3	278					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|cytoplasm|integral to plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(23)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(2)	63	Esophageal squamous(101;0.149)					TTCCATACCATTTTTTTTCTT	0.363													-	21028267	T	-	21028267	7	5	715	1	0	1	0	1	0	0	0	0	14818	1493	52	0	852	0	SLCO1B3	12	21028267	Frame_Shift_Del	DEL	T	TCGA-S9-A6WN-01A-12D-A33T-08		21028267	112823628	31	54916											
MBD6	114785	broad.mit.edu	37	chr12	57921956	57921957	+	Frame_Shift_Del	DEL	CT	CT	-																															ccagagcagccagaagccccCtgtctaccccccgagagccc																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:57921956_57921957delCT	ENST00000355673.3	+	10	2789_2790	c.2433_2434delCT	c.(2431-2436)ccctgtfs	p.C812fs	MBD6_ENST00000431731.2_Frame_Shift_Del_p.C812fs	NM_052897.3	NP_443129.3	Q96DN6	MBD6_HUMAN	methyl-CpG binding domain protein 6	812	Pro-rich.					chromosome|nucleus	chromatin binding|DNA binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(8)|ovary(1)|urinary_tract(1)	31						CAGAAGCCCCCTGTCTACCCCC	0.574													-	57921957	CT	-	57921956	7	5	715	1	0	1	0	1	0	0	0	0	9423	668	24	0	2463	0	MBD6	12	57921956	Frame_Shift_Del	DEL	CT	TCGA-S9-A6WN-01A-12D-A33T-08	36893689	57921956	75929939	32	54917											
UBC	7316	broad.mit.edu	37	chr12	125397663	125397663	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacggagtaccaggtgcaAggtggactctttctggatgt	9	10	15	7	1	2	1	0	0	2	1	2	5	2	4	1	5	2	2	1	5	2	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr12:125397663A>G	ENST00000536769.1	-	1	2231	c.655T>C	c.(655-657)Ttg>Ctg	p.L219L	UBC_ENST00000538617.1_Intron|UBC_ENST00000339647.5_Silent_p.L219L|UBC_ENST00000546120.1_Silent_p.L143L			P0CG48	UBC_HUMAN	ubiquitin C	219	Ubiquitin-like 3.				activation of MAPK activity|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|anti-apoptosis|apoptosis|cellular membrane organization|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA repair|endosome transport|epidermal growth factor receptor signaling pathway|G1/S transition of mitotic cell cycle|I-kappaB kinase/NF-kappaB cascade|induction of apoptosis by extracellular signals|innate immune response|JNK cascade|M/G1 transition of mitotic cell cycle|mRNA metabolic process|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of type I interferon production|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|S phase of mitotic cell cycle|stress-activated MAPK cascade|T cell receptor signaling pathway|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|viral reproduction	cytosol|endocytic vesicle membrane|endosome membrane|nucleoplasm|plasma membrane	protein binding			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		ACCAGGTGCAAGGTGGACTCT	0.517													G	125397663	A	G	125397663	2	3	715	1	0	0	0	0	0	0	0	1	16944	69	3	3		3	UBC	12	125397663	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	67475707	125397663	8454232	33	54918											
N4BP2L2	10443	broad.mit.edu	37	chr13	33017320	33017320	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgaatccatagtttcaggtgGaggtgaaaaatcttcatttc	12	14	9	6	0	3	2	2	2	1	0	5	3	4	3	1	3	0	1	1	3	4	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:33017320G>A	ENST00000357505.6	-	7	1413	c.1309C>T	c.(1309-1311)Cca>Tca	p.P437S	N4BP2L2_ENST00000446957.2_Intron|N4BP2L2_ENST00000399396.3_Missense_Mutation_p.P452S|N4BP2L2_ENST00000504114.1_Missense_Mutation_p.P437S|N4BP2L2_ENST00000380121.3_5'UTR	NM_001278432.1	NP_001265361.1	Q92802	N42L2_HUMAN	NEDD4 binding protein 2-like 2	108										kidney(4)|large_intestine(3)|liver(1)|lung(6)|skin(1)|urinary_tract(1)	16		Lung SC(185;0.0262)		all cancers(112;9.5e-07)|Epithelial(112;5.07e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00196)|BRCA - Breast invasive adenocarcinoma(63;0.00438)|GBM - Glioblastoma multiforme(144;0.243)		GTTTCAGGTGGAGGTGAAAAA	0.373													A	33017320	G	A	33017320	3	1	715	1	0	0	0	0	1	0	0	0	10188	1174	41	2	916	2	N4BP2L2	13	33017320	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		33017320	82152558	34	54919											
SPERT	220082	broad.mit.edu	37	chr13	46276937	46276937	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggccaaattatacaagaaaaAgagataccagatctgaaagc	20	6	8	7	0	1	4	0	1	1	3	1	5	1	4	2	1	3	0	2	1	8	3			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:46276937A>G	ENST00000310521.1	+	2	183	c.103A>G	c.(103-105)Aga>Gga	p.R35G		NM_152719.1	NP_689932.1	Q8NA61	SPERT_HUMAN	spermatid associated	35						cytoplasmic membrane-bounded vesicle				NS(1)|central_nervous_system(1)|large_intestine(5)|lung(5)|ovary(1)|pancreas(1)|prostate(1)	15		Breast(56;0.000819)|Lung NSC(96;0.00227)|Prostate(109;0.00703)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;7.26e-05)		TACAAGAAAAAGAGATACCAG	0.423													G	46276937	A	G	46276937	3	3	715	1	0	0	0	0	1	0	0	0	15135	64	3	3	109	3	SPERT	13	46276937	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	13259617	46276937	68892941	35	54920											
CKAP2	26586	broad.mit.edu	37	chr13	53035286	53035286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taaaaccttcaaatgaactaAccaattcaactgtagtaatt	18	12	3	8	0	2	1	2	1	0	0	2	1	2	1	2	0	4	2	2	0	9	7			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr13:53035286A>G	ENST00000378037.5	+	4	418	c.328A>G	c.(328-330)Acc>Gcc	p.T110A	CKAP2_ENST00000258607.5_Missense_Mutation_p.T109A|CKAP2_ENST00000378034.3_Missense_Mutation_p.T109A|CKAP2_ENST00000490903.1_Missense_Mutation_p.T61A	NM_001098525.1|NM_018204.3	NP_001091995.1|NP_060674.3	Q8WWK9	CKAP2_HUMAN	cytoskeleton associated protein 2	110					apoptosis|cell cycle	centrosome|microtubule|spindle pole				breast(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(3)|skin(1)|urinary_tract(1)	20		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.6e-08)		AAATGAACTAACCAATTCAAC	0.358													G	53035286	A	G	53035286	3	3	715	1	0	0	0	0	1	0	0	0	3473	43	2	3	342	3	CKAP2	13	53035286	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	6758349	53035286	62134592	36	54921											
FITM1	161247	broad.mit.edu	37	chr14	24600895	24600895	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctgtactttggaagcgaAcaggccgcccgccttctggg	6	10	13	12	3	1	0	0	0	1	0	1	2	1	1	3	3	4	2	3	3	3	4			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:24600895A>G	ENST00000558325.1	+	3	685	c.685A>G	c.(685-687)Aca>Gca	p.T229A	FITM1_ENST00000267426.5_Silent_p.E41E																							TTGGAAGCGAACAGGCCGCCC	0.657													G	24600895	A	G	24600895	3	3	715	1	0	0	0	0	1	0	0	0	5947	40	2	3	125	3	FITM1	14	24600895	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08		24600895	82748645	37	54922											
CGRRF1	10668	broad.mit.edu	37	chr14	54989229	54989229	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagagacccagttcagcacAagagttttcaaaaagcaaat	18	7	8	8	0	2	2	2	0	0	2	2	4	2	2	1	0	2	4	1	0	5	3			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr14:54989229A>G	ENST00000216420.7	+	2	294	c.162A>G	c.(160-162)acA>acG	p.T54T	CGRRF1_ENST00000557512.1_3'UTR	NM_006568.2	NP_006559.1	Q99675	CGRF1_HUMAN	cell growth regulator with ring finger domain 1	54					cell cycle arrest|negative regulation of cell proliferation|response to stress		zinc ion binding			endometrium(3)|kidney(2)|lung(5)|ovary(2)|stomach(1)	13						AGTTCAGCACAAGAGTTTTCA	0.338													G	54989229	A	G	54989229	2	3	715	1	0	0	0	0	0	0	0	1	3336	117	5	3		3	CGRRF1	14	54989229	Silent	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	30388334	54989229	52360311	38	54923											
PPP1R14D	54866	broad.mit.edu	37	chr15	41120653	41120653	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagcgctggagctggccccGgtcatacttcactgtcaggc	6	8	12	15	2	3	0	3	0	0	0	3	1	3	1	3	4	3	2	3	4	1	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr15:41120653G>A	ENST00000299174.5	-	1	254	c.187C>T	c.(187-189)Cgg>Tgg	p.R63W	PPP1R14D_ENST00000427255.2_Missense_Mutation_p.R63W	NM_017726.7	NP_060196.1	Q9NXH3	PP14D_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 14D	63					regulation of phosphorylation	cytoplasm	protein phosphatase inhibitor activity	p.R63W(1)		breast(1)|large_intestine(2)|lung(2)|skin(1)	6		all_cancers(109;6.29e-14)|all_epithelial(112;1.48e-11)|Lung NSC(122;5.77e-09)|all_lung(180;1.08e-07)|Melanoma(134;0.091)|Colorectal(260;0.175)|Ovarian(310;0.243)		GBM - Glioblastoma multiforme(113;2.88e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		AGCTGGCCCCGGTCATACTTC	0.592													A	41120653	G	A	41120653	3	1	715	1	0	0	0	0	1	0	0	0	12444	1115	39	1	435	1	PPP1R14D	15	41120653	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		41120653	61410739	39	54924											
PLCG2	5336	broad.mit.edu	37	chr16	81990347	81990347	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcgccagctgaggaggcgGcaagaagaactgaacaacca	14	4	13	10	2	0	4	0	2	0	2	1	5	0	5	2	3	4	2	2	3	5	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr16:81990347G>A	ENST00000359376.3	+	32	3832	c.3618G>A	c.(3616-3618)cgG>cgA	p.R1206R		NM_002661.3	NP_002652.2	P16885	PLCG2_HUMAN	phospholipase C, gamma 2 (phosphatidylinositol-specific)	1206					intracellular signal transduction|phospholipid catabolic process|platelet activation	plasma membrane	phosphatidylinositol phospholipase C activity|protein binding|signal transducer activity	p.R1206R(1)		NS(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(18)|lung(21)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	58						TGAGGAGGCGGCAAGAAGAAC	0.512													A	81990347	G	A	81990347	2	1	715	1	0	0	0	0	0	0	0	1	12113	1190	42	2		2	PLCG2	16	81990347	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		81990347	8364406	40	54925											
INPP5K	51763	broad.mit.edu	37	chr17	1401275	1401275	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcttgtggtcgctgatgccGtacgtcatgtggctgctgta	4	13	15	9	3	1	1	1	1	0	0	2	1	1	1	1	3	3	6	1	3	2	3			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:1401275G>A	ENST00000406424.4	-	10	1550	c.690C>T	c.(688-690)taC>taT	p.Y230Y	INPP5K_ENST00000421807.2_Silent_p.Y306Y|INPP5K_ENST00000320345.6_Silent_p.Y230Y|INPP5K_ENST00000542125.1_Silent_p.Y210Y|INPP5K_ENST00000397335.3_Silent_p.Y214Y	NM_001135642.1	NP_001129114.1	Q9BT40	INP5K_HUMAN	inositol polyphosphate-5-phosphatase K	306	Catalytic (Potential).				actin cytoskeleton organization	cytosol|endoplasmic reticulum|membrane fraction|neuron projection|ruffle	inositol 1,3,4,5-tetrakisphosphate 5-phosphatase activity|inositol bisphosphate phosphatase activity|inositol trisphosphate phosphatase activity|inositol-1,4,5-trisphosphate 5-phosphatase activity|inositol-polyphosphate 5-phosphatase activity|lipid phosphatase activity|protein binding			endometrium(1)|large_intestine(7)|lung(3)|skin(1)	12						CGCTGATGCCGTACGTCATGT	0.607													A	1401275	G	A	1401275	2	1	715	1	0	0	0	0	0	0	0	1	7818	1140	40	1		1	INPP5K	17	1401275	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		1401275	79793935	41	54926											
ZACN	353174	broad.mit.edu	37	chr17	74077738	74077738	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccctccgggccattgagcGcataggctacaaggtgacat	9	7	12	13	2	0	2	0	2	0	0	1	2	1	2	4	3	2	2	4	3	3	3			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr17:74077738G>A	ENST00000334586.5	+	7	865	c.782G>A	c.(781-783)cGc>cAc	p.R261H	EXOC7_ENST00000607838.1_3'UTR|EXOC7_ENST00000589210.1_3'UTR|EXOC7_ENST00000332065.5_3'UTR|EXOC7_ENST00000591724.1_Intron	NM_180990.3	NP_851321.2	Q401N2	ZACN_HUMAN	zinc activated ligand-gated ion channel	261	Leu-rich.				response to zinc ion	integral to membrane|membrane fraction|plasma membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity|receptor activity			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	11						GCCATTGAGCGCATAGGCTAC	0.622													A	74077738	G	A	74077738	3	1	715	1	0	0	0	0	1	0	0	0	17612	1087	38	1	808	1	ZACN	17	74077738	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	72676463	74077738	7117472	42	54927											
UNC13A	23025	broad.mit.edu	37	chr19	17785503	17785503	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagctgggctggctgccccGcaccgcgatggtcgtgctct	3	8	14	16	4	1	0	0	0	1	0	2	1	1	0	4	3	3	5	4	3	0	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:17785503G>A	ENST00000428389.2	-	4	378	c.379C>T	c.(379-381)Cgg>Tgg	p.R127W	UNC13A_ENST00000551649.1_Missense_Mutation_p.R39W|UNC13A_ENST00000252773.7_Missense_Mutation_p.R39W|UNC13A_ENST00000550896.1_Missense_Mutation_p.R39W|UNC13A_ENST00000519716.2_Missense_Mutation_p.R39W|UNC13A_ENST00000552293.1_Missense_Mutation_p.R39W			Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	39					exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						TGGCTGCCCCGCACCGCGATG	0.602													A	17785503	G	A	17785503	3	1	715	1	0	0	0	0	1	0	0	0	17086	1086	38	1	5156	1	UNC13A	19	17785503	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08		17785503	41343480	43	54928											
ARRDC2	27106	broad.mit.edu	37	chr19	18119539	18119539	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gataccggggagaccacgacGctgcctcctgggcgccatga	8	5	14	14	4	0	2	0	1	0	1	1	5	1	2	5	3	2	1	5	3	1	1			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr19:18119539G>A	ENST00000379656.3	+	2	462	c.279G>A	c.(277-279)acG>acA	p.T93T	ARRDC2_ENST00000608009.1_3'UTR|ARRDC2_ENST00000222250.4_Silent_p.T98T	NM_001025604.1	NP_001020775.1	Q8TBH0	ARRD2_HUMAN	arrestin domain containing 2											endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|prostate(1)	12						AGACCACGACGCTGCCTCCTG	0.642													A	18119539	G	A	18119539	2	1	715	1	0	0	0	0	0	0	0	1	988	1074	38	1		1	ARRDC2	19	18119539	Silent	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	334036	18119539	41009444	44	54929											
PIK3IP1	113791	broad.mit.edu	37	chr22	31685255	31685275	+	In_Frame_Del	DEL	CCTTCCTCCCCTCCTCCTAAG	CCTTCCTCCCCTCCTCCTAAG	-																															acaaagtttgactttgtgtaCcttcctcccctcctcctaag																								rs2073861	by1000genomes	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chr22:31685255_31685275delCCTTCCTCCCCTCCTCCTAAG	ENST00000402249.3	-	5	747_767	c.613_633delCTTAGGAGGAGGGGAGGAAGG	c.(613-633)cttaggaggaggggaggaaggdel	p.LRRRGGR205del	PIK3IP1_ENST00000215912.5_Intron|PIK3IP1_ENST00000441972.1_Intron|PIK3IP1_ENST00000487265.2_Intron			Q96FE7	P3IP1_HUMAN	phosphoinositide-3-kinase interacting protein 1	0						integral to membrane				large_intestine(2)|lung(1)|ovary(1)	4						ACTTTGTGTACCTTCCTCCCCTCCTCCTAAGAGGGCCCAGA	0.475													-	31685275	CCTTCCTCCCCTCCTCCTAAG	-	31685255	7	5	715	1	0	1	0	1	0	0	0	0	11994	522	18	0		0	PIK3IP1	22	31685255	In_Frame_Del	DEL	CCTTCCTCCCCTCCTCCTAAG	TCGA-S9-A6WN-01A-12D-A33T-08		31685255	19619311	45	54930											
MXRA5	25878	broad.mit.edu	37	chrX	3240986	3240986	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggttcataaggctcagataTaagtgtaggggctgctgtcc	9	12	13	7	0	2	1	2	0	0	1	3	1	3	1	1	4	1	5	1	4	4	5			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:3240986T>C	ENST00000217939.6	-	5	2894	c.2740A>G	c.(2740-2742)Ata>Gta	p.I914V		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	914						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GGCTCAGATATAAGTGTAGGG	0.498													C	3240986	T	C	3240986	3	2	715	1	0	0	0	0	1	0	0	0	10079	1406	49	3	5758	3	MXRA5	23	3240986	Missense_Mutation	SNP	T	TCGA-S9-A6WN-01A-12D-A33T-08		3240986	152029574	46	54931											
FTSJ1	24140	broad.mit.edu	37	chrX	48337016	48337016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtccacaggggccaagggtCcggccacgtggtggctgtgg	5	7	18	11	2	0	0	0	0	0	0	2	0	2	0	4	7	0	1	4	7	1	0			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:48337016C>T	ENST00000019019.2	+	5	632	c.203C>T	c.(202-204)tCc>tTc	p.S68F	FTSJ1_ENST00000396894.4_Intron|FTSJ1_ENST00000456787.1_Missense_Mutation_p.S68F|FTSJ1_ENST00000348411.2_Missense_Mutation_p.S68F	NM_177439.1	NP_803188.1	Q9UET6	RRMJ1_HUMAN	FtsJ RNA methyltransferase homolog 1 (E. coli)	68					RNA methylation|rRNA processing		methyltransferase activity|nucleic acid binding			breast(1)|central_nervous_system(1)|lung(4)|skin(1)	7						GGCCAAGGGTCCGGCCACGTG	0.657													T	48337016	C	T	48337016	3	4	715	1	0	0	0	0	1	0	0	0	6139	855	30	2	213	2	FTSJ1	23	48337016	Missense_Mutation	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	45096030	48337016	106933544	47	54932											
ZMYM3	9203	broad.mit.edu	37	chrX	70469912	70469912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catatgctgcagcgagtagcGtcggcgggatccccagactg	8	7	14	12	4	0	1	0	0	0	1	2	3	1	2	2	2	4	3	2	2	2	2			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:70469912G>A	ENST00000373978.1	-	5	1003	c.926C>T	c.(925-927)aCg>aTg	p.T309M	ZMYM3_ENST00000373998.1_Silent_p.D405D|ZMYM3_ENST00000353904.2_Silent_p.D405D|ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373981.1_Silent_p.D405D|ZMYM3_ENST00000373988.1_Silent_p.D407D|ZMYM3_ENST00000373982.1_Silent_p.D407D|ZMYM3_ENST00000373984.3_Silent_p.D407D|ZMYM3_ENST00000314425.5_Silent_p.D405D			Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	0					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					AGCGAGTAGCGTCGGCGGGAT	0.622													A	70469912	G	A	70469912	3	1	715	1	0	0	0	0	1	0	0	0	17802	1136	40	1	2995	1	ZMYM3	23	70469912	Missense_Mutation	SNP	G	TCGA-S9-A6WN-01A-12D-A33T-08	22132896	70469912	84800648	48	54933											
ZCCHC5	203430	broad.mit.edu	37	chrX	77913570	77913570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactcccgggttgctggaggCgccagggactctggggctgc	4	7	18	12	2	1	0	0	0	1	0	2	3	2	2	2	6	2	3	2	6	0	1	rs139493021	byFrequency	TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:77913570C>T	ENST00000321110.1	-	2	643	c.348G>A	c.(346-348)gcG>gcA	p.A116A		NM_152694.2	NP_689907.1	Q8N8U3	ZCHC5_HUMAN	zinc finger, CCHC domain containing 5	116	Pro-rich.						nucleic acid binding|zinc ion binding	p.A116A(2)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(1)|prostate(1)|skin(1)	37						TTGCTGGAGGCGCCAGGGACT	0.632													T	77913570	C	T	77913570	2	4	715	1	0	0	0	0	0	0	0	1	17692	755	27	1		1	ZCCHC5	23	77913570	Silent	SNP	C	TCGA-S9-A6WN-01A-12D-A33T-08	7443658	77913570	77356990	49	54934											
CUL4B	8450	broad.mit.edu	37	chrX	119678007	119678007	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttttggccttcagctgcatAgagccggttagtttcttcca	6	16	9	10	1	2	1	1	0	1	1	3	1	3	1	3	2	3	4	3	2	2	7			TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:119678007A>G	ENST00000371322.5	-	7	1196	c.1135T>C	c.(1135-1137)Tat>Cat	p.Y379H	CUL4B_ENST00000404115.3_Missense_Mutation_p.Y397H|CUL4B_ENST00000336592.6_Missense_Mutation_p.Y384H	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN	cullin 4B	397					cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TCAGCTGCATAGAGCCGGTTA	0.333													G	119678007	A	G	119678007	3	3	715	1	0	0	0	0	1	0	0	0	4091	420	15	3	1608	3	CUL4B	23	119678007	Missense_Mutation	SNP	A	TCGA-S9-A6WN-01A-12D-A33T-08	41764437	119678007	35592553	50	54935											
FMR1	2332	broad.mit.edu	37	chrX	147014218	147014219	+	Frame_Shift_Ins	INS	-	-	A																															attaggatcaggatgcagtgINSaaaaaagctagaagctttct																										TCGA-S9-A6WN-01A-12D-A33T-08	TCGA-S9-A6WN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	28fad1e7-d33d-4b57-a53c-08001a5d9cac	421f7363-5fb3-40c6-8a52-839029d4134b	g.chrX:147014218_147014219insA	ENST00000218200.8	+	9	1045_1046	c.816_817insA	c.(817-819)aaafs	p.K273fs	FMR1_ENST00000334557.6_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370471.3_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000440235.2_5'UTR|FMR1_ENST00000439526.2_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370477.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370470.1_Frame_Shift_Ins_p.K273fs|FMR1_ENST00000370475.4_Frame_Shift_Ins_p.K273fs	NM_001185076.1|NM_001185082.1	NP_001172005.1|NP_001172011.1	Q06787	FMR1_HUMAN	fragile X mental retardation 1	273					mRNA transport|negative regulation of translational initiation	cytoplasm|mRNA cap binding complex|nucleolus|nucleoplasm|soluble fraction	mRNA binding|protein binding			NS(1)|breast(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(13)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	35	Acute lymphoblastic leukemia(192;6.56e-05)					AGGATGCAGTGAAAAAAGCTAG	0.332									Fragile X syndrome				A	147014219	-	A	147014218	7	5	715	1	0	1	1	0	0	0	0	0	6009	1277	45	0	850	0	FMR1	23	147014218	Frame_Shift_Ins	INS	-	TCGA-S9-A6WN-01A-12D-A33T-08	27336211	147014218	8256342	51	54936											
C1orf87	127795	broad.mit.edu	37	chr1	60505832	60505832	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtcttcatttgttgtcccActtgggctctggccaatatc	5	15	9	12	1	3	0	1	0	2	0	5	0	4	0	2	2	0	2	2	2	2	5			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:60505832A>C	ENST00000371201.3	-	5	611	c.504T>G	c.(502-504)agT>agG	p.S168R	C1orf87_ENST00000450089.2_Intron	NM_152377.2	NP_689590.1	Q8N0U7	CA087_HUMAN	chromosome 1 open reading frame 87	168							calcium ion binding			breast(2)|endometrium(2)|large_intestine(6)|lung(19)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	33						TTGTTGTCCCACTTGGGCTCT	0.443													C	60505832	A	C	60505832	3	2	716	1	0	0	0	0	1	0	0	0	2085	156	6	5	1168	5	C1orf87	1	60505832	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		60505832	188744789	1	54937											
PRG4	10216	broad.mit.edu	37	chr1	186273287	186273287	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaaagcacctccacctTcaggagcatctcaaaccatc	15	6	5	15	0	2	1	2	0	1	1	5	2	3	2	4	1	3	2	4	1	3	1	rs150567824		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:186273287T>C	ENST00000445192.2	+	5	412	c.367T>C	c.(367-369)Tca>Cca	p.S123P	PRG4_ENST00000367483.4_Missense_Mutation_p.S82P|PRG4_ENST00000367484.3_Missense_Mutation_p.S82P|PRG4_ENST00000367485.4_Intron|PRG4_ENST00000367486.3_Missense_Mutation_p.S123P	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	123					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			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						ACCTCCACCTTCAGGAGCATC	0.408													C	186273287	T	C	186273287	3	2	716	1	0	0	0	0	1	0	0	0	12567	1783	62	3	381	3	PRG4	1	186273287	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	125767455	186273287	62977334	2	54938											
CFH	3075	broad.mit.edu	37	chr1	196716343	196716343	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aacaggtgaatcagttgaatTtgtgtgtaaacggggatatc	13	12	12	4	1	1	2	1	2	0	0	2	3	1	3	0	3	2	2	0	3	6	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr1:196716343T>A	ENST00000367429.4	+	22	3836	c.3596T>A	c.(3595-3597)tTt>tAt	p.F1199Y		NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	1199	Sushi 20.		F -> S (in AHUS1).		complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						TCAGTTGAATTTGTGTGTAAA	0.398													A	196716343	T	A	196716343	3	1	716	1	0	0	0	0	1	0	0	0	3313	1841	64	5	3700	5	CFH	1	196716343	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	10443056	196716343	52534278	3	54939											
DYSF	8291	broad.mit.edu	37	chr2	71797733	71797733	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gttccccctcccccaggctgGgagtatagcatcaccatccc	7	8	8	18	0	1	0	1	0	0	0	4	1	4	1	6	2	1	4	6	2	2	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:71797733G>A	ENST00000258104.3	+	29	3313	c.3036G>A	c.(3034-3036)tgG>tgA	p.W1012*	DYSF_ENST00000409651.1_Nonsense_Mutation_p.W1044*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.W1030*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.W1029*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.W1043*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.W1013*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.W999*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.W1030*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.W1012*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.W1029*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1012						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CCCCAGGCTGGGAGTATAGCA	0.617													A	71797733	G	A	71797733	4	1	716	1	0	0	0	0	0	1	0	0	4898	1241	43	2	3342	2	DYSF	2	71797733	Nonsense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		71797733	171401640	4	54940											
CTNNA2	1496	broad.mit.edu	37	chr2	80835412	80835412	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaggtgaaggcagaagtgcAgaatctgggaggagagctca	14	5	16	6	0	2	4	1	1	1	3	2	6	2	5	0	4	2	3	0	4	4	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:80835412A>G	ENST00000466387.1	+	21	3123	c.2399A>G	c.(2398-2400)cAg>cGg	p.Q800R	CTNNA2_ENST00000540488.1_Intron|CTNNA2_ENST00000343114.3_Missense_Mutation_p.Q479R|AC008067.2_ENST00000609950.1_RNA|AC008067.2_ENST00000430876.1_RNA|CTNNA2_ENST00000402739.4_Missense_Mutation_p.Q800R|CTNNA2_ENST00000541047.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000496558.1_Missense_Mutation_p.Q800R|CTNNA2_ENST00000361291.4_Missense_Mutation_p.Q834R			P26232	CTNA2_HUMAN	catenin (cadherin-associated protein), alpha 2	800					axonogenesis|brain morphogenesis|cell-cell adhesion|dendrite morphogenesis|muscle cell differentiation|positive regulation of muscle cell differentiation|prepulse inhibition|radial glia guided migration of Purkinje cell|regulation of synapse structural plasticity	actin cytoskeleton|axon|cytosol	cadherin binding|structural constituent of cytoskeleton			breast(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(49)|pancreas(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	78						GCAGAAGTGCAGAATCTGGGA	0.468													G	80835412	A	G	80835412	3	3	716	1	0	0	0	0	1	0	0	0	4046	188	7	3	2253	3	CTNNA2	2	80835412	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	9037679	80835412	162363961	5	54941											
CASP8	841	broad.mit.edu	37	chr2	202136285	202136285	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtgagcagatcagaattgAggtcttttaagtttcttttg	11	16	10	4	0	3	4	1	2	2	2	3	4	3	4	0	1	1	2	0	1	3	6			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:202136285A>G	ENST00000358485.4	+	3	725	c.529A>G	c.(529-531)Agg>Ggg	p.R177G	CASP8_ENST00000432109.2_Missense_Mutation_p.R118G|CASP8_ENST00000392266.3_Missense_Mutation_p.R118G|CASP8_ENST00000392259.2_Missense_Mutation_p.R118G|CASP8_ENST00000392258.3_Missense_Mutation_p.R118G|CASP8_ENST00000323492.7_Missense_Mutation_p.R118G|CASP8_ENST00000264275.5_Missense_Mutation_p.R150G|CASP8_ENST00000264274.9_Missense_Mutation_p.R118G	NM_001080125.1	NP_001073594.1	Q14790	CASP8_HUMAN	caspase 8, apoptosis-related cysteine peptidase	118	DED 2.				activation of caspase activity|activation of pro-apoptotic gene products|cellular component disassembly involved in apoptosis|cellular response to mechanical stimulus|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|positive regulation of I-kappaB kinase/NF-kappaB cascade|proteolysis involved in cellular protein catabolic process|response to tumor necrosis factor	centrosome|cytosol|mitochondrial outer membrane	cysteine-type endopeptidase activity|protein binding			breast(5)|cervix(2)|endometrium(6)|large_intestine(11)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(9)|urinary_tract(3)	52						ATCAGAATTGAGGTCTTTTAA	0.388										HNSCC(4;0.00038)			G	202136285	A	G	202136285	3	3	716	1	0	0	0	0	1	0	0	0	2703	295	11	3	639	3	CASP8	2	202136285	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	121300873	202136285	41063088	6	54942											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	716	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	6976827	209113112	34086261	7	54943											
HGD	3081	broad.mit.edu	37	chr3	120360529	120360529	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccaggccacaacattgaaCggggagacatcctaaacaca	15	5	9	12	1	0	2	0	1	0	1	1	3	1	2	3	3	4	0	3	3	4	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr3:120360529C>T	ENST00000283871.5	-	11	1245	c.786G>A	c.(784-786)ccG>ccA	p.P262P		NM_000187.3	NP_000178.2	Q93099	HGD_HUMAN	homogentisate 1,2-dioxygenase	262					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	homogentisate 1,2-dioxygenase activity|metal ion binding			cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(2)	25				GBM - Glioblastoma multiforme(114;0.158)		CAACATTGAACGGGGAGACAT	0.418													T	120360529	C	T	120360529	2	4	716	1	0	0	0	0	0	0	0	1	7139	523	19	1		1	HGD	3	120360529	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		120360529	77661901	8	54944											
MMRN1	22915	broad.mit.edu	37	chr4	90857200	90857200	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattctattcagactttggTcaatgacaatcagagatata	14	14	7	6	0	4	4	3	2	1	2	4	5	4	4	0	1	0	0	0	1	5	6			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:90857200T>C	ENST00000394980.1	+	7	2688	c.2369T>C	c.(2368-2370)gTc>gCc	p.V790A	MMRN1_ENST00000264790.2_Missense_Mutation_p.V790A|MMRN1_ENST00000508372.1_Missense_Mutation_p.V532A|MMRN1_ENST00000394981.1_Intron			Q13201	MMRN1_HUMAN	multimerin 1	790					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		CAGACTTTGGTCAATGACAAT	0.378													C	90857200	T	C	90857200	3	2	716	1	0	0	0	0	1	0	0	0	9746	1667	58	3	2391	3	MMRN1	4	90857200	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		90857200	100297076	9	54945											
LEF1	51176	broad.mit.edu	37	chr4	108985490	108985490	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggaaagtctcatggtgcctAcctgatgcagattcctgtag	9	12	11	9	0	1	2	1	1	1	1	3	3	2	3	3	2	3	2	3	2	3	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:108985490A>G	ENST00000379951.2	-	9	2270		c.e9+1		LEF1_ENST00000438313.2_Splice_Site|LEF1_ENST00000503879.1_Splice_Site|LEF1_ENST00000510624.1_Splice_Site|LEF1_ENST00000265165.1_Splice_Site	NM_001130713.2|NM_001130714.2	NP_001124185.1|NP_001124186.1	Q9UJU2	LEF1_HUMAN	lymphoid enhancer-binding factor 1						canonical Wnt receptor signaling pathway|cell chemotaxis|cellular response to interleukin-4|epithelial to mesenchymal transition|histone H3 acetylation|histone H4 acetylation|negative regulation of apoptosis in bone marrow|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cell-cell adhesion|negative regulation of DNA binding|negative regulation of estrogen receptor binding|negative regulation of interleukin-13 production|negative regulation of interleukin-4 production|negative regulation of interleukin-5 production|negative regulation of transcription, DNA-dependent|neutrophil differentiation|osteoblast differentiation|palate development|positive regulation by host of viral transcription|positive regulation of cell cycle process|positive regulation of cell growth|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of cell proliferation in bone marrow|positive regulation of cell-cell adhesion|positive regulation of epithelial to mesenchymal transition|positive regulation of granulocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|T-helper 1 cell differentiation	cytoplasm|protein-DNA complex|transcription factor complex	armadillo repeat domain binding|beta-catenin binding|C2H2 zinc finger domain binding|caspase inhibitor activity|DNA bending activity|enhancer binding|estrogen receptor activity|estrogen receptor binding|gamma-catenin binding|histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(14)|prostate(1)|urinary_tract(1)	25				OV - Ovarian serous cystadenocarcinoma(123;0.000224)		CATGGTGCCTACCTGATGCAG	0.433													G	108985490	A	G	108985490	5	3	716	1	0	0	0	0	0	0	1	0	8773	405	14	3	124	3	LEF1	4	108985490	Splice_Site	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	18128290	108985490	82168786	10	54946											
NR3C2	4306	broad.mit.edu	37	chr4	149075788	149075788	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagcagattttcggctgtaTctggttttgagctgtcatag	8	15	12	6	1	2	3	1	1	1	2	3	3	2	3	0	2	2	5	0	2	2	6			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr4:149075788T>C	ENST00000355292.3	-	5	2653	c.2291A>G	c.(2290-2292)gAt>gGt	p.D764G	NR3C2_ENST00000511528.1_Missense_Mutation_p.D764G|RP11-76G10.1_ENST00000514843.1_RNA|NR3C2_ENST00000358102.3_Missense_Mutation_p.D760G|NR3C2_ENST00000512865.1_Intron|NR3C2_ENST00000344721.4_Missense_Mutation_p.D760G|NR3C2_ENST00000503313.1_5'UTR			P08235	MCR_HUMAN	nuclear receptor subfamily 3, group C, member 2	760	Steroid-binding.				regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	endoplasmic reticulum membrane|nucleoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|liver(1)|lung(11)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.0614)	Desoxycorticosterone Pivalate(DB01134)|Eplerenone(DB00700)|Fludrocortisone(DB00687)|Spironolactone(DB00421)	TTCGGCTGTATCTGGTTTTGA	0.488													C	149075788	T	C	149075788	3	2	716	1	0	0	0	0	1	0	0	0	10707	1435	50	3	695	3	NR3C2	4	149075788	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	40090298	149075788	42078488	11	54947											
SLCO4C1	353189	broad.mit.edu	37	chr5	101595961	101595961	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatactttttccaaatttcaCatctgcattactattactct	12	18	1	10	0	3	0	1	0	2	0	4	0	4	0	1	0	4	1	1	0	6	7			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:101595961C>T	ENST00000310954.6	-	6	1370	c.1084G>A	c.(1084-1086)Gtg>Atg	p.V362M		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	362					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		CCAAATTTCACATCTGCATTA	0.294													T	101595961	C	T	101595961	3	4	716	1	0	0	0	0	1	0	0	0	14824	478	17	2	1122	2	SLCO4C1	5	101595961	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		101595961	79319299	12	54948											
ZNF608	57507	broad.mit.edu	37	chr5	123980089	123980089	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactcttgttccccgagagTccttccagttcacaggagtc	7	11	8	15	1	2	1	1	0	1	1	6	3	5	2	5	1	0	2	5	1	0	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr5:123980089T>A	ENST00000306315.5	-	5	4406	c.3971A>T	c.(3970-3972)gAc>gTc	p.D1324V	ZNF608_ENST00000504926.1_Missense_Mutation_p.D897V	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1324						intracellular	zinc ion binding			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		TCCCCGAGAGTCCTTCCAGTT	0.478													A	123980089	T	A	123980089	3	1	716	1	0	0	0	0	1	0	0	0	18135	1667	58	5	587	5	ZNF608	5	123980089	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	22384128	123980089	56935171	13	54949											
HIST1H1D	3007	broad.mit.edu	37	chr6	26234906	26234906	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctttgctcaccaagctctTgaggccaagcttgatacggc	9	10	9	13	1	2	2	1	2	1	0	2	2	2	2	3	2	4	3	3	2	3	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:26234906T>A	ENST00000244534.5	-	1	310	c.256A>T	c.(256-258)Aag>Tag	p.K86*		NM_005320.2	NP_005311.1	P16402	H13_HUMAN	histone cluster 1, H1d	86	H15.				nucleosome assembly	nucleosome|nucleus	DNA binding			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	23		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				ACCAAGCTCTTGAGGCCAAGC	0.542													A	26234906	T	A	26234906	4	1	716	1	0	0	0	0	0	1	0	0	7180	1821	63	5	413	5	HIST1H1D	6	26234906	Nonsense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		26234906	144880161	14	54950											
VIP	7432	broad.mit.edu	37	chr6	153076508	153076508	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttatgggaaaacgtgttaGgtaaagagaatttattattt	14	16	9	2	1	1	1	0	0	1	1	1	3	1	2	0	2	1	2	0	2	9	7			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr6:153076508G>C	ENST00000367244.3	+	4	507	c.335G>C	c.(334-336)aGc>aCc	p.S112T	VIP_ENST00000367243.3_Splice_Site_p.S112T	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	112					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		AAACGTGTTAGGTAAAGAGaa	0.313													C	153076508	G	C	153076508	5	2	716	1	0	0	0	0	0	0	1	0	17269	1014	35	4	345	4	VIP	6	153076508	Splice_Site	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	126841602	153076508	18038559	15	54951											
INTS1	26173	broad.mit.edu	37	chr7	1516294	1516294	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaggcagaggggtcgaacCtgtggggaggcaaaggttcc	10	5	19	7	1	0	2	0	0	0	2	2	5	1	3	2	7	1	3	2	7	2	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:1516294C>G	ENST00000389470.4	-	38	5660		c.e38-1		INTS1_ENST00000404767.3_Splice_Site			Q8N201	INT1_HUMAN	integrator complex subunit 1						snRNA processing	integral to membrane|integrator complex|nuclear membrane				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGGTCGAACCTGTGGGGAGG	0.627													G	1516294	C	G	1516294	5	3	716	1	0	0	0	0	0	0	1	0	7833	695	24	4	1557	4	INTS1	7	1516294	Splice_Site	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		1516294	157622369	16	54952											
CARD11	84433	broad.mit.edu	37	chr7	2983876	2983876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctcggctcctcatgacCgccatgttcttctcctcact	5	13	7	16	2	5	1	2	1	3	0	8	1	6	1	4	2	0	2	4	2	0	2	rs113957419		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:2983876C>T	ENST00000396946.4	-	5	1057	c.654G>A	c.(652-654)gcG>gcA	p.A218A	AC004906.3_ENST00000423194.1_RNA	NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	218					positive regulation of cytokine production|positive regulation of NF-kappaB transcription factor activity|regulation of apoptosis|T cell costimulation|T cell receptor signaling pathway	cytosol|membrane raft|plasma membrane	CARD domain binding|guanylate kinase activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCCTCATGACCGCCATGTTCT	0.572			Mis		DLBCL								T	2983876	C	T	2983876	2	4	716	1	0	0	0	0	0	0	0	1	2671	639	23	1		1	CARD11	7	2983876	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	1467582	2983876	156154787	17	54953											
SH2B2	10603	broad.mit.edu	37	chr7	101960850	101960850	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcacgtacagcatctgtGgttccagtctgtgcttgaca	7	13	11	10	1	3	1	1	1	2	0	4	1	4	1	1	1	3	4	1	1	1	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:101960850G>A	ENST00000536178.1	+	9	1610	c.1565G>A	c.(1564-1566)tGg>tAg	p.W522*	SH2B2_ENST00000306803.8_Nonsense_Mutation_p.W482*			O14492	SH2B2_HUMAN	SH2B adaptor protein 2	483					blood coagulation|insulin receptor signaling pathway|intracellular signal transduction	cytosol|plasma membrane	JAK pathway signal transduction adaptor activity|SH3/SH2 adaptor activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|skin(1)	9						CAGCATCTGTGGTTCCAGTCT	0.647													A	101960850	G	A	101960850	4	1	716	1	0	0	0	0	0	1	0	0	14321	1357	47	2	1339	2	SH2B2	7	101960850	Nonsense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	98976974	101960850	57177813	18	54954											
ATP6V0A4	50617	broad.mit.edu	37	chr7	138444521	138444521	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaggatcctccagaggggcGtccatctcactgaacttcaa	11	8	9	13	1	2	2	2	1	1	1	6	3	5	3	3	3	1	0	3	3	2	1			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:138444521G>A	ENST00000310018.2	-	8	897	c.615C>T	c.(613-615)gaC>gaT	p.D205D	ATP6V0A4_ENST00000353492.4_Silent_p.D205D|ATP6V0A4_ENST00000393054.1_Silent_p.D205D	NM_020632.2|NM_130840.2	NP_065683.2|NP_570855.2	Q9HBG4	VPP4_HUMAN	ATPase, H+ transporting, lysosomal V0 subunit a4	205					cellular iron ion homeostasis|excretion|insulin receptor signaling pathway|ossification|regulation of pH|sensory perception of sound|transferrin transport	apical plasma membrane|brush border membrane|endosome membrane|integral to membrane|proton-transporting two-sector ATPase complex, proton-transporting domain	ATPase binding|hydrogen ion transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CCAGAGGGGCGTCCATCTCAC	0.532													A	138444521	G	A	138444521	2	1	716	1	0	0	0	0	0	0	0	1	1175	1136	40	1		1	ATP6V0A4	7	138444521	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	36483671	138444521	20694142	19	54955											
PAXIP1	22976	broad.mit.edu	37	chr7	154767623	154767623	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagttaatcaacccaggcTcctttccctgaggcagcctg	10	9	8	14	0	1	1	1	1	0	0	3	1	3	1	4	2	2	3	4	2	3	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr7:154767623T>C	ENST00000404141.1	-	6	1011	c.857A>G	c.(856-858)gAg>gGg	p.E286G	PAXIP1_ENST00000397192.1_Missense_Mutation_p.E286G|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	286					DNA damage response, signal transduction by p53 class mediator|DNA recombination|DNA repair|histone H3-K4 methylation|positive regulation of histone acetylation|positive regulation of histone H3-K36 methylation|positive regulation of histone H3-K4 methylation|positive regulation of isotype switching|positive regulation of protein ubiquitination|positive regulation of transcription initiation from RNA polymerase II promoter|response to ionizing radiation|transcription, DNA-dependent	histone methyltransferase complex|nuclear matrix				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		CAACCCAGGCTCCTTTCCCTG	0.522													C	154767623	T	C	154767623	3	2	716	1	0	0	0	0	1	0	0	0	11563	1551	54	3	2416	3	PAXIP1	7	154767623	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	16323102	154767623	4371040	20	54956											
RP1	6101	broad.mit.edu	37	chr8	55540532	55540532	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	attcaactgaagagttagaaAgaggtgatgacattcagaaa	18	9	10	4	0	2	7	2	3	0	4	2	7	2	7	0	1	1	1	0	1	5	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:55540532A>G	ENST00000220676.1	+	4	4238	c.4090A>G	c.(4090-4092)Aga>Gga	p.R1364G		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1364					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			AGAGTTAGAAAGAGGTGATGA	0.323													G	55540532	A	G	55540532	3	3	716	1	0	0	0	0	1	0	0	0	13623	64	3	3	4100	3	RP1	8	55540532	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		55540532	90823490	21	54957											
RIPK2	8767	broad.mit.edu	37	chr8	90782109	90782109	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatatgccacctgaaaactAtgaacctggacaaaaatcaa	18	8	5	10	0	1	2	1	2	0	0	1	3	1	3	3	1	3	0	3	1	9	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr8:90782109A>G	ENST00000220751.4	+	4	907	c.593A>G	c.(592-594)tAt>tGt	p.Y198C	RIPK2_ENST00000540020.1_Missense_Mutation_p.Y61C	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	198	Protein kinase.				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|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	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			CCTGAAAACTATGAACCTGGA	0.408													G	90782109	A	G	90782109	3	3	716	1	0	0	0	0	1	0	0	0	13472	449	16	3	607	3	RIPK2	8	90782109	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	35241577	90782109	55581913	22	54958											
ASS1	445	broad.mit.edu	37	chr9	133364801	133364801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccatggaccgggaagtgcGcaaaatcaaacaaggcctgg	14	4	12	11	2	1	0	1	0	0	0	1	2	1	2	3	4	2	1	3	4	5	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr9:133364801G>A	ENST00000372394.1	+	13	1401	c.920G>A	c.(919-921)cGc>cAc	p.R307H	ASS1_ENST00000352480.5_Missense_Mutation_p.R307H|ASS1_ENST00000372393.3_Missense_Mutation_p.R307H			P00966	ASSY_HUMAN	argininosuccinate synthase 1	307			R -> C (in CTLN1).		arginine biosynthetic process|urea cycle	cytosol	argininosuccinate synthase activity|ATP binding|protein binding			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CGGGAAGTGCGCAAAATCAAA	0.532													A	133364801	G	A	133364801	3	1	716	1	0	0	0	0	1	0	0	0	1066	1087	38	1	962	1	ASS1	9	133364801	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		133364801	7848630	23	54959											
SEPHS1	22929	broad.mit.edu	37	chr10	13386920	13386920	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttttgtccaattcgtaacTttccgggttaaaggactccc	8	14	8	11	2	0	0	0	0	0	0	4	1	3	1	3	2	1	3	3	2	4	6			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:13386920T>C	ENST00000327347.5	-	2	406	c.31A>G	c.(31-33)Agt>Ggt	p.S11G	SEPHS1_ENST00000378614.4_Missense_Mutation_p.S11G|SEPHS1_ENST00000494329.1_5'UTR|SEPHS1_ENST00000537130.1_Intron|SEPHS1_ENST00000545675.1_Missense_Mutation_p.S11G	NM_001195602.1|NM_012247.4	NP_001182531.1|NP_036379.2	P49903	SPS1_HUMAN	selenophosphate synthetase 1	11					protein modification process		ATP binding|GTP binding|selenide, water dikinase activity			cervix(1)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|stomach(1)	16						AATTCGTAACTTTCCGGGTTA	0.542													C	13386920	T	C	13386920	3	2	716	1	0	0	0	0	1	0	0	0	14147	1609	56	3	1179	3	SEPHS1	10	13386920	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		13386920	122147827	24	54960											
ANKRD30A	91074	broad.mit.edu	37	chr10	37454040	37454040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgagatactcccatcagAatccaaacaaaaggactatg	18	7	7	9	0	1	3	1	1	0	3	3	5	3	4	2	1	2	0	2	1	6	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:37454040A>G	ENST00000374660.1	+	18	1952	c.1853A>G	c.(1852-1854)gAa>gGa	p.E618G	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.E618G|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.E618G			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	674						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						CTCCCATCAGAATCCAAACAA	0.284													G	37454040	A	G	37454040	3	3	716	1	0	0	0	0	1	0	0	0	658	246	9	3	1923	3	ANKRD30A	10	37454040	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08	24067120	37454040	98080707	25	54961											
IPMK	253430	broad.mit.edu	37	chr10	59956132	59956132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatatattttcctgtgacgcGcatacatcttggacaagctt	10	15	7	9	2	1	1	0	1	1	0	2	2	2	2	1	1	2	2	1	1	5	8			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:59956132G>A	ENST00000373935.3	-	6	1278	c.956C>T	c.(955-957)gCg>gTg	p.A319V		NM_152230.4	NP_689416.1	Q8NFU5	IPMK_HUMAN	inositol polyphosphate multikinase	319						nucleus	ATP binding|inositol trisphosphate 6-kinase activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(1)	22						CCTGTGACGCGCATACATCTT	0.378													A	59956132	G	A	59956132	3	1	716	1	0	0	0	0	1	0	0	0	7850	1087	38	1	298	1	IPMK	10	59956132	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	22502092	59956132	75578615	26	54962											
TACC2	10579	broad.mit.edu	37	chr10	123847056	123847056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccctgggcaaccagagcaccCctgcaccaccaactggagaa	12	3	9	17	0	0	2	0	0	0	2	0	3	0	2	6	2	4	3	6	2	3	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr10:123847056C>A	ENST00000369005.1	+	4	5381	c.5041C>A	c.(5041-5043)Cct>Act	p.P1681T	TACC2_ENST00000515603.1_Missense_Mutation_p.P1681T|TACC2_ENST00000334433.3_Missense_Mutation_p.P1681T|TACC2_ENST00000453444.2_Missense_Mutation_p.P1681T|TACC2_ENST00000358010.1_Intron|TACC2_ENST00000513429.1_Intron|TACC2_ENST00000515273.1_Missense_Mutation_p.P1681T	NM_206862.2	NP_996744.2	O95359	TACC2_HUMAN	transforming, acidic coiled-coil containing protein 2	1681						microtubule organizing center|nucleus	nuclear hormone receptor binding			NS(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(15)|lung(27)|ovary(6)|prostate(3)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	83		all_neural(114;0.0656)|Lung NSC(174;0.136)|all_lung(145;0.17)|Breast(234;0.197)				CCAGAGCACCCCTGCACCACC	0.622													A	123847056	C	A	123847056	3	1	716	1	0	0	0	0	1	0	0	0	15599	623	22	4	5051	4	TACC2	10	123847056	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	63890924	123847056	11687691	27	54963											
OR5J2	282775	broad.mit.edu	37	chr11	55944829	55944829	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacctgtgcctctcacctgActgctgtgaccatattctat	7	13	6	15	0	2	2	1	2	2	0	3	2	2	2	5	0	2	1	5	0	2	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:55944829A>G	ENST00000312298.1	+	1	736	c.736A>G	c.(736-738)Act>Gct	p.T246A		NM_001005492.1	NP_001005492.1	Q8NH18	OR5J2_HUMAN	olfactory receptor, family 5, subfamily J, member 2	246					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(30)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	44	Esophageal squamous(21;0.00693)					CTCTCACCTGACTGCTGTGAC	0.443													G	55944829	A	G	55944829	3	3	716	1	0	0	0	0	1	0	0	0	11241	275	10	3	738	3	OR5J2	11	55944829	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		55944829	79061687	28	54964											
OR5M3	219482	broad.mit.edu	37	chr11	56237368	56237368	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggaatatgtgaagttaatGccggcaagtatgatcattgt	13	12	12	4	1	1	2	1	2	0	0	1	3	1	3	1	2	1	3	1	2	6	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:56237368G>C	ENST00000312240.2	-	1	646	c.606C>G	c.(604-606)ggC>ggG	p.G202G		NM_001004742.2	NP_001004742.2	Q8NGP4	OR5M3_HUMAN	olfactory receptor, family 5, subfamily M, member 3	202					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(2)|endometrium(2)|large_intestine(7)|lung(15)|ovary(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	37	Esophageal squamous(21;0.00448)					TGAAGTTAATGCCGGCAAGTA	0.418													C	56237368	G	C	56237368	2	2	716	1	0	0	0	0	0	0	0	1	11251	1306	46	4		4	OR5M3	11	56237368	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	292539	56237368	78769148	29	54965											
PIH1D2	120379	broad.mit.edu	37	chr11	111941252	111941252	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggtttctcactgtgatcatGcacaatttttagttcatagg	10	16	8	7	0	3	1	3	1	1	0	4	1	3	1	0	2	1	3	0	2	3	6			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr11:111941252G>T	ENST00000530641.1	-	5	1046	c.721C>A	c.(721-723)Cat>Aat	p.H241N	PIH1D2_ENST00000532211.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000431456.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000528775.1_Missense_Mutation_p.H241N|PIH1D2_ENST00000280350.4_Missense_Mutation_p.H241N			Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	241										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		CTGTGATCATGCACAATTTTT	0.398													T	111941252	G	T	111941252	3	4	716	1	0	0	0	0	1	0	0	0	11984	1319	46	4	292	4	PIH1D2	11	111941252	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	55703884	111941252	23065264	30	54966											
KRT3	3850	broad.mit.edu	37	chr12	53185104	53185104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgcgccaggtcatccttcGcctgctgtagagcagcctgc	5	8	12	16	3	1	1	1	0	0	1	3	1	2	1	5	1	4	3	5	1	1	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:53185104G>A	ENST00000417996.2	-	7	1495	c.1421C>T	c.(1420-1422)gCg>gTg	p.A474V	KRT3_ENST00000309505.3_Missense_Mutation_p.A474V	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	474	Coil 2.|Rod.				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GTCATCCTTCGCCTGCTGTAG	0.612													A	53185104	G	A	53185104	3	1	716	1	0	0	0	0	1	0	0	0	8524	1087	38	1	477	1	KRT3	12	53185104	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		53185104	80666791	31	54967											
DNAH10	196385	broad.mit.edu	37	chr12	124364299	124364299	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgcacgaaggagaaccacGcatttatgaagacatccagg	14	7	10	10	2	1	3	0	1	1	2	2	5	2	3	2	2	2	2	2	2	4	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr12:124364299G>A	ENST00000409039.3	+	49	8256	c.8231G>A	c.(8230-8232)cGc>cAc	p.R2744H		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	2744					microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.R2744H(1)|p.R1336H(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		GGAGAACCACGCATTTATGAA	0.532													A	124364299	G	A	124364299	3	1	716	1	0	0	0	0	1	0	0	0	4637	1087	38	1	8425	1	DNAH10	12	124364299	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	71179195	124364299	9487596	32	54968											
MYH7	4625	broad.mit.edu	37	chr14	23886516	23886516	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcatacttctgcttccaCtcggccaggatctgcccggg	5	11	9	16	2	3	0	1	0	2	0	6	1	5	1	4	3	3	1	4	3	1	3			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr14:23886516C>T	ENST00000355349.3	-	32	4527	c.4365G>A	c.(4363-4365)gaG>gaA	p.E1455E		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1455					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		TCTGCTTCCACTCGGCCAGGA	0.622													T	23886516	C	T	23886516	2	4	716	1	0	0	0	0	0	0	0	1	10115	564	20	2		2	MYH7	14	23886516	Silent	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		23886516	83463024	33	54969											
RFX7	64864	broad.mit.edu	37	chr15	56390461	56390461	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcttctggattttccGttgcaactgctgtttagcat	5	18	8	10	1	2	0	0	0	2	0	3	1	3	1	1	1	5	6	1	1	2	7			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:56390461G>A	ENST00000423270.1	-	8	924	c.925C>T	c.(925-927)Cgg>Tgg	p.R309W	RFX7_ENST00000422057.1_Missense_Mutation_p.R212W|RFX7_ENST00000317318.6_Missense_Mutation_p.R309W|RFX7_ENST00000559447.2_Missense_Mutation_p.R212W	NM_022841.5	NP_073752.5	Q2KHR2	RFX7_HUMAN	regulatory factor X, 7	212					regulation of transcription, DNA-dependent	nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						TGGATTTTCCGTTGCAACTGC	0.438													A	56390461	G	A	56390461	3	1	716	1	0	0	0	0	1	0	0	0	13356	1144	40	1	3465	1	RFX7	15	56390461	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		56390461	46140931	34	54970											
GCNT3	9245	broad.mit.edu	37	chr15	59911450	59911450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggccacccttcagcGtgcacggtggatgcctggct	4	9	13	15	2	2	0	1	0	1	0	2	1	2	1	4	4	3	2	4	4	0	1	rs142393489		TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:59911450G>A	ENST00000396065.1	+	3	1461	c.1013G>A	c.(1012-1014)cGt>cAt	p.R338H	GCNT3_ENST00000560585.1_Missense_Mutation_p.R338H	NM_004751.2	NP_004742.1	O95395	GCNT3_HUMAN	glucosaminyl (N-acetyl) transferase 3, mucin type	338					protein O-linked glycosylation	Golgi membrane|integral to membrane|membrane fraction	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity|N-acetyllactosaminide beta-1,6-N-acetylglucosaminyltransferase activity			central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACCCTTCAGCGTGCACGGTGG	0.507													A	59911450	G	A	59911450	3	1	716	1	0	0	0	0	1	0	0	0	6356	1145	40	1	1015	1	GCNT3	15	59911450	Missense_Mutation	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08	3520989	59911450	42619942	35	54971											
IL16	3603	broad.mit.edu	37	chr15	81558108	81558108	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagtaacaggaagtccctctCtcaacaattggactgtccag	12	9	8	12	0	2	0	1	0	1	0	5	2	4	2	2	2	2	1	2	2	4	2			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr15:81558108C>G	ENST00000394660.2	+	4	890	c.530C>G	c.(529-531)tCt>tGt	p.S177C	IL16_ENST00000302987.4_Missense_Mutation_p.S177C	NM_001172128.1|NM_172217.3	NP_001165599.1|NP_757366.2	Q14005	IL16_HUMAN	interleukin 16	177					immune response|interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|extracellular space|nucleus|plasma membrane	cytokine activity			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(3)|skin(3)|stomach(1)|urinary_tract(1)	57						AAGTCCCTCTCTCAACAATTG	0.512											OREG0023362	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	81558108	C	G	81558108	3	3	716	1	0	0	0	0	1	0	0	0	7691	913	32	4	540	4	IL16	15	81558108	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	21646658	81558108	20973284	36	54972											
PDP2	57546	broad.mit.edu	37	chr16	66919758	66919758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taactcagaatcaatcggtgCatattacaaggggggttaag	14	10	11	6	1	2	1	2	0	0	1	3	1	2	1	0	4	3	2	0	4	7	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr16:66919758C>T	ENST00000311765.2	+	2	1905	c.1571C>T	c.(1570-1572)gCa>gTa	p.A524V	PDP2_ENST00000568720.1_Intron	NM_020786.2	NP_065837.1	Q9P2J9	PDP2_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 2	524					pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity|metal ion binding			kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|urinary_tract(1)	12		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.088)|Epithelial(162;0.204)		TCAATCGGTGCATATTACAAG	0.438													T	66919758	C	T	66919758	3	4	716	1	0	0	0	0	1	0	0	0	11762	710	25	2	1573	2	PDP2	16	66919758	Missense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		66919758	23434995	37	54973											
TP53	7157	broad.mit.edu	37	chr17	7579415	7579415	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaagatgacaggggcCaggagggggctggtgcaggg	10	3	22	6	0	0	3	0	1	0	2	0	5	0	5	1	8	1	2	1	8	1	0			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:7579415C>T	ENST00000420246.2	-	4	404	c.272G>A	c.(271-273)tGg>tAg	p.W91*	TP53_ENST00000455263.2_Nonsense_Mutation_p.W91*|TP53_ENST00000445888.2_Nonsense_Mutation_p.W91*|TP53_ENST00000269305.4_Nonsense_Mutation_p.W91*|TP53_ENST00000359597.4_Nonsense_Mutation_p.W91*|TP53_ENST00000413465.2_Nonsense_Mutation_p.W91*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	91	Interaction with WWOX.		W -> C (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.0?(8)|p.W91*(7)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)		TGACAGGGGCCAGGAGGGGGC	0.632		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)			T	7579415	C	T	7579415	4	4	716	1	0	0	0	0	0	1	0	0	16482	595	21	2	1030	2	TP53	17	7579415	Nonsense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08		7579415	73615795	38	54974											
ZNF287	57336	broad.mit.edu	37	chr17	16466534	16466534	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggaatcacagttggtctgTacactgtaagtcctgttcag	9	13	11	8	0	3	0	2	0	1	0	4	1	4	1	1	2	1	4	1	2	3	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr17:16466534T>C	ENST00000395824.1	-	5	1258	c.641A>G	c.(640-642)tAc>tGc	p.Y214C	ZNF287_ENST00000395825.3_Missense_Mutation_p.Y214C			Q9HBT7	ZN287_HUMAN	zinc finger protein 287	207	KRAB.				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)		AGTTGGTCTGTACACTGTAAG	0.393													C	16466534	T	C	16466534	3	2	716	1	0	0	0	0	1	0	0	0	17926	1638	57	3	1652	3	ZNF287	17	16466534	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	8887119	16466534	64728676	39	54975											
CDH19	28513	broad.mit.edu	37	chr18	64176405	64176405	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acgggattccattgtcggcaAttaagatggagatgtagaag	13	10	13	5	2	0	3	0	0	0	3	2	5	1	4	1	3	0	2	1	3	4	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr18:64176405A>G	ENST00000262150.2	-	11	1947	c.1655T>C	c.(1654-1656)aTt>aCt	p.I552T	CDH19_ENST00000540086.1_Intron	NM_021153.3	NP_066976.1	Q9H159	CAD19_HUMAN	cadherin 19, type 2	552	Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				ATTGTCGGCAATTAAGATGGA	0.428													G	64176405	A	G	64176405	3	3	716	1	0	0	0	0	1	0	0	0	3134	101	4	3	671	3	CDH19	18	64176405	Missense_Mutation	SNP	A	TCGA-S9-A6WO-01A-21D-A34A-08		64176405	13900843	40	54976											
FBXO27	126433	broad.mit.edu	37	chr19	39517588	39517588	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagaacagtctggttggcGtctagaagttggacgaggag	10	10	15	6	2	3	2	0	0	3	2	3	5	3	4	0	4	1	2	0	4	4	4			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr19:39517588G>A	ENST00000292853.4	-	5	749	c.630C>T	c.(628-630)gaC>gaT	p.D210D	FBXO27_ENST00000509137.2_Silent_p.D210D|FBXO27_ENST00000600828.1_Silent_p.D209D	NM_178820.3	NP_849142.1	Q8NI29	FBX27_HUMAN	F-box protein 27	210	FBA.				protein catabolic process	SCF ubiquitin ligase complex	glycoprotein binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|ovary(1)|urinary_tract(2)	17	all_cancers(60;3.79e-07)|all_lung(34;1.26e-07)|Lung NSC(34;1.46e-07)|all_epithelial(25;4.69e-07)|Ovarian(47;0.0454)		Lung(45;0.000419)|LUSC - Lung squamous cell carcinoma(53;0.000554)			TCTGGTTGGCGTCTAGAAGTT	0.562													A	39517588	G	A	39517588	2	1	716	1	0	0	0	0	0	0	0	1	5786	1136	40	1		1	FBXO27	19	39517588	Silent	SNP	G	TCGA-S9-A6WO-01A-21D-A34A-08		39517588	19611395	41	54977											
BRWD1	54014	broad.mit.edu	37	chr21	40570809	40570809	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagttcagatttcctgaaaTtgggttcatttccattttat	10	18	6	7	0	2	2	2	1	0	1	4	2	4	2	2	1	0	2	2	1	2	7			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chr21:40570809T>C	ENST00000342449.3	-	40	5611	c.5533A>G	c.(5533-5535)Att>Gtt	p.I1845V	BRWD1_ENST00000380800.3_Missense_Mutation_p.I1845V|BRWD1_ENST00000333229.2_Missense_Mutation_p.I1845V	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	1845					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTTCCTGAAATTGGGTTCATT	0.358													C	40570809	T	C	40570809	3	2	716	1	0	0	0	0	1	0	0	0	1534	1493	52	3	1680	3	BRWD1	21	40570809	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08		40570809	7559086	42	54978											
ATRX	546	broad.mit.edu	37	chrX	76938678	76938679	+	Frame_Shift_Del	DEL	TT	TT	-																															tttctcactggaactgatagTttttgtttctccttaactgt																										TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76938678_76938679delTT	ENST00000373344.5	-	9	2283_2284	c.2069_2070delAA	c.(2068-2070)aaafs	p.K690fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K652fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	690					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)	GAACTGATAGTTTTTGTTTCTC	0.371			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938679	TT	-	76938678	7	5	716	1	0	1	0	1	0	0	0	0	1213	1722	60	0	5516	0	ATRX	23	76938678	Frame_Shift_Del	DEL	TT	TCGA-S9-A6WO-01A-21D-A34A-08		76938678	78331882	43	54979											
ATRX	546	broad.mit.edu	37	chrX	76939959	76939959	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggtgacaaatgtagcaataCcattggttgttttcatccat	11	14	9	7	0	1	1	1	1	0	0	2	1	2	1	2	2	2	4	2	2	4	6			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:76939959C>T	ENST00000373344.5	-	9	1003	c.789G>A	c.(787-789)tgG>tgA	p.W263*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.W225*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	263	ADD.				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.W263*(1)|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)	TGTAGCAATACCATTGGTTGT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76939959	C	T	76939959	4	4	716	1	0	0	0	0	0	1	0	0	1213	508	18	2	6797	2	ATRX	23	76939959	Nonsense_Mutation	SNP	C	TCGA-S9-A6WO-01A-21D-A34A-08	1281	76939959	78330601	44	54980											
DACH2	117154	broad.mit.edu	37	chrX	85404113	85404114	+	Splice_Site	DEL	GT	GT	-																															accgattgcaccaatgccagGtgagacactcgtttcttggc																										TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:85404113_85404114delGT	ENST00000373131.1	+	1	651		c.e1+1		DACH2_ENST00000373125.4_Splice_Site	NM_001139514.1	NP_001132986.1	Q96NX9	DACH2_HUMAN	dachshund homolog 2 (Drosophila)						regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|nucleotide binding			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(14)|lung(28)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	71						CCAATGCCAGGTGAGACACTCG	0.535													-	85404114	GT	-	85404113	8	5	716	1	0	1	0	1	0	0	1	0	4255	1275	44	0	491	0	DACH2	23	85404113	Splice_Site	DEL	GT	TCGA-S9-A6WO-01A-21D-A34A-08	8464154	85404113	69866447	45	54981											
ZMAT1	84460	broad.mit.edu	37	chrX	101138846	101138846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttctgaagagaggtgcttgTaaacttcagattctacactg	11	14	9	7	0	3	3	1	1	2	2	3	4	3	3	0	1	3	2	0	1	4	6			TCGA-S9-A6WO-01A-21D-A34A-08	TCGA-S9-A6WO-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2180fc91-787b-4cb2-b55d-94d2657a5e96	30163d6a-a79d-4c5d-9b0d-6de0eae88352	g.chrX:101138846T>C	ENST00000458570.1	-	9	2370	c.1040A>G	c.(1039-1041)tAc>tGc	p.Y347C	ZMAT1_ENST00000372782.3_Missense_Mutation_p.Y518C|ZMAT1_ENST00000540921.1_Missense_Mutation_p.Y518C|ZMAT1_ENST00000494068.1_5'UTR	NM_001282401.1	NP_001269330.1	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	347						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						GAGGTGCTTGTAAACTTCAGA	0.413													C	101138846	T	C	101138846	3	2	716	1	0	0	0	0	1	0	0	0	17792	1638	57	3	367	3	ZMAT1	23	101138846	Missense_Mutation	SNP	T	TCGA-S9-A6WO-01A-21D-A34A-08	15734733	101138846	54131714	46	54982											
FUBP1	8880	broad.mit.edu	37	chr1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-																															ctcacaccaatcttttcttcTatgagttgccgagcatagtc																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:78428470_78428471delTA	ENST00000370767.1	-	14	1415_1416	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma								-	78428471	TA	-	78428470	7	5	717	1	0	1	0	1	0	0	0	0	6144	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-S9-A6WP-01A-12D-A34A-08		78428470	170822151	1	54983											
SETDB1	9869	broad.mit.edu	37	chr1	150935061	150935062	+	Splice_Site	DEL	AG	AG	-																															tcattccttcccctcccattAgagttactgaaagctctcga																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:150935061_150935062delAG	ENST00000271640.5	+	18	3348		c.e18-1		SETDB1_ENST00000368969.4_Splice_Site	NM_001145415.1|NM_012432.3	NP_001138887.1|NP_036564.3	Q15047	SETB1_HUMAN	SET domain, bifurcated 1						regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|Golgi apparatus|nucleus|plasma membrane	DNA binding|histone-lysine N-methyltransferase activity|protein binding|zinc ion binding			NS(1)|large_intestine(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	12	all_lung(15;9e-35)|Lung NSC(24;3.45e-31)|Lung SC(34;0.00471)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.108)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|BRCA - Breast invasive adenocarcinoma(12;0.0152)|LUSC - Lung squamous cell carcinoma(543;0.211)			CCCTCCCATTAGAGTTACTGAA	0.47													-	150935062	AG	-	150935061	8	5	717	1	0	1	0	1	0	0	1	0	14231	434	15	0	3223	0	SETDB1	1	150935061	Splice_Site	DEL	AG	TCGA-S9-A6WP-01A-12D-A34A-08	72506591	150935061	98315560	2	54984											
FAM78B	149297	broad.mit.edu	37	chr1	166039755	166039755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggccaccagccaggtcGtgaaactttggtctctcttg	7	12	10	12	1	3	1	1	1	2	0	5	1	3	1	3	3	2	0	3	3	1	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:166039755G>A	ENST00000338353.3	-	3	1098	c.509C>T	c.(508-510)aCg>aTg	p.T170M	FAM78B_ENST00000354422.3_Missense_Mutation_p.T170M			Q5VT40	FA78B_HUMAN	family with sequence similarity 78, member B	170										central_nervous_system(1)|endometrium(5)|large_intestine(1)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(923;0.0813)|Acute lymphoblastic leukemia(8;0.155)					CAGCCAGGTCGTGAAACTTTG	0.507													A	166039755	G	A	166039755	3	1	717	1	0	0	0	0	1	0	0	0	5677	1145	40	1	280	1	FAM78B	1	166039755	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	15104694	166039755	83210866	3	54985											
KCNT2	343450	broad.mit.edu	37	chr1	196227362	196227364	+	In_Frame_Del	DEL	TTT	TTT	-																															gacccaagtgtttcattctaTttttcacaagttcagcaagc																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:196227362_196227364delTTT	ENST00000367433.5	-	25	3200_3202	c.3099_3101delAAA	c.(3097-3102)aaaaat>aat	p.K1033del	KCNT2_ENST00000294725.9_In_Frame_Del_p.K1057del|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_In_Frame_Del_p.K991del|KCNT2_ENST00000609185.1_In_Frame_Del_p.K990del|KCNT2_ENST00000451324.2_3'UTR	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1057						voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						TTTCATTCTATTTTTCACAAGTT	0.389													-	196227364	TTT	-	196227362	7	5	717	1	0	1	0	1	0	0	0	0	8150	1493	52	0	246	0	KCNT2	1	196227362	In_Frame_Del	DEL	TTT	TCGA-S9-A6WP-01A-12D-A34A-08	30187607	196227362	53023259	4	54986											
USH2A	7399	broad.mit.edu	37	chr1	215990472	215990472	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atggataccatgttttccatAggagatcatatccaagaatg	14	12	8	7	0	1	2	1	0	0	2	3	4	3	3	3	2	1	1	3	2	5	5			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr1:215990472A>G	ENST00000366943.2	-	48	9823	c.9437T>C	c.(9436-9438)cTa>cCa	p.L3146P	USH2A_ENST00000307340.3_Missense_Mutation_p.L3146P			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3146	Fibronectin type-III 18.				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)		TGTTTTCCATAGGAGATCATA	0.413										HNSCC(13;0.011)			G	215990472	A	G	215990472	3	3	717	1	0	0	0	0	1	0	0	0	17138	420	15	3	6271	3	USH2A	1	215990472	Missense_Mutation	SNP	A	TCGA-S9-A6WP-01A-12D-A34A-08	19763110	215990472	33260149	5	54987											
SCN7A	6332	broad.mit.edu	37	chr2	167263066	167263066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttggtccttttccaagaCgcagcatgtgaatgatccgt	8	13	9	11	2	0	3	0	2	0	1	3	3	3	3	4	1	1	2	4	1	2	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:167263066C>T	ENST00000409855.1	-	25	4199	c.4073G>A	c.(4072-4074)cGt>cAt	p.R1358H		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	1358					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44						TTTTCCAAGACGCAGCATGTG	0.468													T	167263066	C	T	167263066	3	4	717	1	0	0	0	0	1	0	0	0	14016	536	19	1	979	1	SCN7A	2	167263066	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		167263066	75936307	6	54988											
MYO3B	140469	broad.mit.edu	37	chr2	171073874	171073874	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acgtctgcggagaaacacatCtgttggcaccccgttctgga	9	9	11	12	3	3	1	0	0	3	1	3	3	3	2	2	3	2	3	2	3	1	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:171073874C>T	ENST00000334231.6	+	6	599	c.599C>T	c.(598-600)tCt>tTt	p.S200F	MYO3B_ENST00000408978.4_Missense_Mutation_p.S191F|MYO3B_ENST00000409044.3_Missense_Mutation_p.S191F|MYO3B_ENST00000602629.1_3'UTR			Q8WXR4	MYO3B_HUMAN	myosin IIIB	191	Protein kinase.				response to stimulus|visual perception	cytoplasm|myosin complex	actin binding|ATP binding|motor activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(25)|ovary(6)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	59						AGAAACACATCTGTTGGCACC	0.448													T	171073874	C	T	171073874	3	4	717	1	0	0	0	0	1	0	0	0	10153	913	32	2	594	2	MYO3B	2	171073874	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	3810808	171073874	72125499	7	54989											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	717	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	38039238	209113112	34086261	8	54990											
HDAC11	79885	broad.mit.edu	37	chr3	13538268	13538268	+	Frame_Shift_Del	DEL	C	C	-																															gttgctaccatcacagaaatCccccccgttatcttcctccc																								rs149720388		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:13538268delC	ENST00000295757.3	+	4	468	c.285delC	c.(283-285)atcfs	p.I95fs	HDAC11_ENST00000402259.1_Intron|HDAC11_ENST00000404040.1_Intron|HDAC11_ENST00000437379.2_Frame_Shift_Del_p.I67fs|HDAC11_ENST00000405025.1_Intron|HDAC11_ENST00000402271.1_Intron|HDAC11_ENST00000404548.1_Intron|HDAC11_ENST00000522202.1_Intron|HDAC11_ENST00000446613.2_Intron|HDAC11_ENST00000433119.1_Frame_Shift_Del_p.I67fs	NM_024827.3	NP_079103.2	Q96DB2	HDA11_HUMAN	histone deacetylase 11	95	Histone deacetylase.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	histone deacetylase complex|plasma membrane	histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|transcription factor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(4)|prostate(3)	13						TCACAGAAATCCCCCCCGTTA	0.577											OREG0015411	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	13538268	C	-	13538268	7	5	717	1	0	1	0	1	0	0	0	0	7061	845	30	0	299	0	HDAC11	3	13538268	Frame_Shift_Del	DEL	C	TCGA-S9-A6WP-01A-12D-A34A-08		13538268	184484162	9	54991											
VILL	50853	broad.mit.edu	37	chr3	38043319	38043319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgagcccccccacttcctcGccatcttccagggccagctg	5	7	9	20	2	1	0	0	0	1	0	4	1	3	0	7	1	2	1	7	1	0	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:38043319G>A	ENST00000283713.6	+	13	1713	c.1447G>A	c.(1447-1449)Gcc>Acc	p.A483T	VILL_ENST00000465644.1_Missense_Mutation_p.A201T|VILL_ENST00000383759.2_Missense_Mutation_p.A483T			O15195	VILL_HUMAN	villin-like	483					actin filament capping|cytoskeleton organization	actin cytoskeleton	actin binding|structural constituent of cytoskeleton			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|liver(1)|lung(7)|ovary(1)|pancreas(1)|prostate(3)|stomach(3)|urinary_tract(2)	28				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CCACTTCCTCGCCATCTTCCA	0.607													A	38043319	G	A	38043319	3	1	717	1	0	0	0	0	1	0	0	0	17267	1087	38	1	1493	1	VILL	3	38043319	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	24505051	38043319	159979111	10	54992											
SERPINI2	5276	broad.mit.edu	37	chr3	167189539	167189539	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgataaagatccactgcaaaTtcggtatttttttgagctga	12	15	8	6	1	0	4	0	3	0	1	2	4	1	4	1	1	2	3	1	1	4	6			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr3:167189539T>C	ENST00000476257.1	-	3	382	c.84A>G	c.(82-84)gaA>gaG	p.E28E	SERPINI2_ENST00000264677.4_Silent_p.E28E|SERPINI2_ENST00000461846.1_Silent_p.E28E|SERPINI2_ENST00000471111.1_Silent_p.E28E|SERPINI2_ENST00000465031.1_5'UTR			O75830	SPI2_HUMAN	serpin peptidase inhibitor, clade I (pancpin), member 2	28					cellular component movement|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(20)|prostate(1)|skin(5)|urinary_tract(1)	41						CCACTGCAAATTCGGTATTTT	0.373													C	167189539	T	C	167189539	2	2	717	1	0	0	0	0	0	0	0	1	14212	1490	52	3		3	SERPINI2	3	167189539	Silent	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08	129146220	167189539	30832891	11	54993											
PCDHGB4	8641	broad.mit.edu	37	chr5	140768348	140768348	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aactctaacaccggggaaatTactgttttaaatacattaga	16	12	6	7	1	1	1	0	0	1	1	1	2	1	2	1	2	4	1	1	2	8	6			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:140768348T>C	ENST00000519479.1	+	1	897	c.897T>C	c.(895-897)atT>atC	p.I299I	PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGGGGAAATTACTGTTTTAA	0.438													C	140768348	T	C	140768348	2	2	717	1	0	0	0	0	0	0	0	1	11641	1742	61	3		3	PCDHGB4	5	140768348	Silent	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		140768348	40146912	12	54994											
KCTD16	57528	broad.mit.edu	37	chr5	143586416	143586416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	attccacattgataagcatcCctcattccctcctgtggaaa	11	12	5	13	0	1	1	1	1	0	0	5	2	5	2	4	1	1	1	4	1	2	4			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:143586416C>T	ENST00000507359.3	+	2	1230	c.139C>T	c.(139-141)Cct>Tct	p.P47S	KCTD16_ENST00000512467.1_Missense_Mutation_p.P47S	NM_020768.3	NP_065819.1	Q68DU8	KCD16_HUMAN	potassium channel tetramerization domain containing 16		BTB.					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	p.P47S(1)		large_intestine(5)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	21		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)			GATAAGCATCCCTCATTCCCT	0.473													T	143586416	C	T	143586416	3	4	717	1	0	0	0	0	1	0	0	0	8161	623	22	2	141	2	KCTD16	5	143586416	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	2818068	143586416	37328844	13	54995											
DOCK2	1794	broad.mit.edu	37	chr5	169111328	169111328	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagctcttcatgtctctctaCgaccccaacaagcaaacggt	11	9	7	14	2	4	0	1	0	3	0	5	2	4	0	2	1	5	2	2	1	4	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr5:169111328C>T	ENST00000256935.8	+	8	815	c.735C>T	c.(733-735)taC>taT	p.Y245Y		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	245					actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGTCTCTCTACGACCCCAACA	0.493													T	169111328	C	T	169111328	2	4	717	1	0	0	0	0	0	0	0	1	4726	547	19	1		1	DOCK2	5	169111328	Silent	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	25524912	169111328	11803932	14	54996											
ZNF292	23036	broad.mit.edu	37	chr6	87964919	87964920	+	Frame_Shift_Del	DEL	AA	AA	-																															aagagagagataaaacagttAagagagaggggatttatatc																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr6:87964919_87964920delAA	ENST00000369577.3	+	8	1615_1616	c.1572_1573delAA	c.(1570-1575)ttaagafs	p.R525fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.R520fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	525					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAAAACAGTTAAGAGAGAGGGG	0.406													-	87964920	AA	-	87964919	7	5	717	1	0	1	0	1	0	0	0	0	17927	359	13	0	1602	0	ZNF292	6	87964919	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WP-01A-12D-A34A-08		87964919	83150148	15	54997											
NSUN5	55695	broad.mit.edu	37	chr7	72722449	72722451	+	In_Frame_Del	DEL	CTT	CTT	-																															ttggccaggtgcggccgcagCttcttctccgcacggaggag																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:72722449_72722451delCTT	ENST00000428206.1	-	2	206_208	c.193_195delAAG	c.(193-195)aagdel	p.K65del	NSUN5_ENST00000438747.2_In_Frame_Del_p.K65del|NSUN5_ENST00000310326.8_In_Frame_Del_p.K65del|NSUN5_ENST00000252594.6_In_Frame_Del_p.K65del	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	65							methyltransferase activity			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GCGGCCGCAGCTTCTTCTCCGCA	0.66													-	72722451	CTT	-	72722449	7	5	717	1	0	1	0	1	0	0	0	0	10757	796	28	0	1262	0	NSUN5	7	72722449	In_Frame_Del	DEL	CTT	TCGA-S9-A6WP-01A-12D-A34A-08		72722449	86416214	16	54998											
PEX1	5189	broad.mit.edu	37	chr7	92134081	92134081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctgcaccgcatcaggaCtgtgctcatgttccgggaca	7	9	12	13	2	3	0	2	0	1	0	4	2	4	2	2	3	2	5	2	3	0	1	rs61750412		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:92134081C>T	ENST00000248633.4	-	12	2131	c.2036G>A	c.(2035-2037)aGt>aAt	p.S679N	PEX1_ENST00000541751.1_Missense_Mutation_p.S96N|PEX1_ENST00000428214.1_Intron|PEX1_ENST00000438045.1_Missense_Mutation_p.S357N	NM_000466.2	NP_000457.1	O43933	PEX1_HUMAN	peroxisomal biogenesis factor 1	679			Missing (in NALD).		microtubule-based peroxisome localization|protein import into peroxisome matrix	cytosol|nucleus|peroxisomal membrane	ATP binding|ATPase activity, coupled|protein C-terminus binding|protein complex binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41	all_cancers(62;9.35e-11)|all_epithelial(64;4.59e-10)|Breast(17;0.00201)|all_lung(186;0.0438)|Lung NSC(181;0.0592)	Breast(660;0.000932)|all_neural(109;0.00391)|Myeloproliferative disorder(862;0.0122)|Ovarian(593;0.023)|Medulloblastoma(109;0.123)	GBM - Glioblastoma multiforme(5;4.06e-06)|STAD - Stomach adenocarcinoma(4;4.51e-05)|all cancers(6;5.32e-05)|LUSC - Lung squamous cell carcinoma(200;0.225)|Lung(22;0.23)			CGCATCAGGACTGTGCTCATG	0.517													T	92134081	C	T	92134081	3	4	717	1	0	0	0	0	1	0	0	0	11812	565	20	2	1867	2	PEX1	7	92134081	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	19411632	92134081	67004582	17	54999											
MET	4233	broad.mit.edu	37	chr7	116380017	116380017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtttaggttgtggtttctcGatcaggaccatcaacccctc	7	14	9	11	1	3	0	2	0	1	0	5	2	3	1	3	3	1	3	3	3	2	4			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:116380017G>A	ENST00000397752.3	+	4	1606	c.1406G>A	c.(1405-1407)cGa>cAa	p.R469Q	MET_ENST00000495962.1_3'UTR|MET_ENST00000318493.6_Missense_Mutation_p.R469Q|MET_ENST00000436117.2_Missense_Mutation_p.R469Q	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	469	Sema.				axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			GTGGTTTCTCGATCAGGACCA	0.378			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				A	116380017	G	A	116380017	3	1	717	1	0	0	0	0	1	0	0	0	9560	1058	37	1	1416	1	MET	7	116380017	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	24245936	116380017	42758646	18	55000											
ACTR3B	57180	broad.mit.edu	37	chr7	152497701	152497703	+	In_Frame_Del	DEL	AGG	AGG	-																															gatgaccttgactttttcatAggagatgaagccatcgataa																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr7:152497701_152497703delAGG	ENST00000256001.8	+	3	320_322	c.186_188delAGG	c.(184-189)atagga>ata	p.G63del	ACTR3B_ENST00000377776.3_In_Frame_Del_p.G63del|ACTR3B_ENST00000397282.2_5'UTR|ACTR3B_ENST00000537264.1_Intron	NM_020445.5	NP_065178.1	Q9P1U1	ARP3B_HUMAN	ARP3 actin-related protein 3 homolog B (yeast)	63					regulation of actin filament polymerization	cell projection|cytoplasm|cytoskeleton	actin binding|ATP binding			breast(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)	13		all_hematologic(28;0.0592)|Prostate(32;0.191)	OV - Ovarian serous cystadenocarcinoma(82;0.0287)	UCEC - Uterine corpus endometrioid carcinoma (81;0.0434)		ACTTTTTCATAGGAGATGAAGCC	0.399													-	152497703	AGG	-	152497701	7	5	717	1	0	1	0	1	0	0	0	0	213	410	15	0	196	0	ACTR3B	7	152497701	In_Frame_Del	DEL	AGG	TCGA-S9-A6WP-01A-12D-A34A-08	36117684	152497701	6640962	19	55001											
POTEA	340441	broad.mit.edu	37	chr8	43173619	43173619	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgaagaagaaatgcagaaGcatggaagtaataatgtggg	17	8	14	2	0	0	4	0	1	0	3	0	5	0	5	0	2	2	4	0	2	7	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr8:43173619G>A	ENST00000522175.2	+	0	905							Q6S8J7	POTEA_HUMAN	POTE ankyrin domain family, member A											breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(27)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						AAATGCAGAAGCATGGAAGTA	0.358													A	43173619	G	A	43173619	1	1	717	0	1	0	0	0	0	0	0	0	12338	962	34	2		2	POTEA	8	43173619	RNA	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		43173619	103190403	20	55002											
ENTPD7	57089	broad.mit.edu	37	chr10	101448501	101448501	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttgggaagattcgaccacGaggatggtgagtaatattgt	11	13	13	4	2	0	2	0	1	0	1	1	6	0	4	1	3	0	1	1	3	3	6			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr10:101448501G>A	ENST00000370489.4	+	7	881	c.703G>A	c.(703-705)Gag>Aag	p.E235K		NM_020354.3	NP_065087.1	Q9NQZ7	ENTP7_HUMAN	ectonucleoside triphosphate diphosphohydrolase 7	235						cytoplasmic vesicle membrane|integral to membrane	hydrolase activity			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|urinary_tract(1)	18		Colorectal(252;0.234)		Epithelial(162;4.72e-10)|all cancers(201;3.75e-08)		ATTCGACCACGAGGATGGTGA	0.363													A	101448501	G	A	101448501	3	1	717	1	0	0	0	0	1	0	0	0	5185	1059	37	1	725	1	ENTPD7	10	101448501	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		101448501	34086246	21	55003											
GYLTL1B	120071	broad.mit.edu	37	chr11	45949792	45949792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctggcgggaggctcaggccCcgtaccgtgtgcaatgggcg	5	6	18	12	4	1	0	1	0	0	0	1	1	1	1	3	5	2	4	3	5	2	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:45949792C>T	ENST00000531526.1	+	13	1930	c.1819C>T	c.(1819-1821)Ccg>Tcg	p.P607S	GYLTL1B_ENST00000401752.1_Missense_Mutation_p.P607S|GYLTL1B_ENST00000325468.5_Missense_Mutation_p.P607S|GYLTL1B_ENST00000536139.1_Missense_Mutation_p.P576S|GYLTL1B_ENST00000529052.1_Missense_Mutation_p.P576S	NM_152312.3	NP_689525.3	Q8N3Y3	LARG2_HUMAN	glycosyltransferase-like 1B	607					muscle cell homeostasis	Golgi membrane|integral to membrane	transferase activity, transferring glycosyl groups			breast(2)|central_nervous_system(2)|endometrium(6)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(35;0.226)		GGCTCAGGCCCCGTACCGTGT	0.657													T	45949792	C	T	45949792	3	4	717	1	0	0	0	0	1	0	0	0	6962	623	22	2	1865	2	GYLTL1B	11	45949792	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		45949792	89056724	22	55004											
OR9G1	390174	broad.mit.edu	37	chr11	56468109	56468109	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tacaccccaaagatcctagtGacctgcatctctgaagacaa	14	8	6	13	0	1	4	0	2	1	2	3	4	2	4	4	0	2	1	4	0	5	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:56468109G>C	ENST00000312153.1	+	1	246	c.246G>C	c.(244-246)gtG>gtC	p.V82V		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						AGATCCTAGTGACCTGCATCT	0.488													C	56468109	G	C	56468109	2	2	717	1	0	0	0	0	0	0	0	1	11326	1277	45	4		4	OR9G1	11	56468109	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	10518317	56468109	78538407	23	55005											
C2CD3	26005	broad.mit.edu	37	chr11	73806412	73806412	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaccatctctatatggatCtcaaagcagtgctccatcag	12	12	6	11	0	3	0	2	0	2	0	6	1	4	1	2	1	3	2	2	1	4	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:73806412C>T	ENST00000334126.7	-	17	3247	c.3021G>A	c.(3019-3021)gaG>gaA	p.E1007E	C2CD3_ENST00000313663.7_Silent_p.E1007E			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1007						centrosome				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CTATATGGATCTCAAAGCAGT	0.433													T	73806412	C	T	73806412	2	4	717	1	0	0	0	0	0	0	0	1	2175	912	32	2		2	C2CD3	11	73806412	Silent	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	17338303	73806412	61200104	24	55006											
TMEM45B	120224	broad.mit.edu	37	chr11	129722547	129722547	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcaattaggactttgttttCcgtcactggtaagagcaggg	9	12	12	8	2	1	1	1	0	0	1	2	2	2	2	1	3	1	4	1	3	3	5			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr11:129722547C>A	ENST00000281441.3	+	2	258	c.170C>A	c.(169-171)tCc>tAc	p.S57Y	TMEM45B_ENST00000524567.1_Missense_Mutation_p.S57Y	NM_138788.3	NP_620143.1	Q96B21	TM45B_HUMAN	transmembrane protein 45B	57						integral to membrane				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|stomach(1)	12	all_hematologic(175;0.0537)	Breast(109;0.00526)|Lung NSC(97;0.00901)|all_lung(97;0.018)|Medulloblastoma(222;0.0523)|all_neural(223;0.186)		OV - Ovarian serous cystadenocarcinoma(99;0.012)|Lung(977;0.179)|LUSC - Lung squamous cell carcinoma(976;0.189)		ACTTTGTTTTCCGTCACTGGT	0.468													A	129722547	C	A	129722547	3	1	717	1	0	0	0	0	1	0	0	0	16270	855	30	4	172	4	TMEM45B	11	129722547	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	55916135	129722547	5283969	25	55007											
PRMT8	56341	broad.mit.edu	37	chr12	3649898	3649900	+	In_Frame_Del	DEL	GAG	GAG	-																															tgtccaagctgctgaacccaGaggagatgacctcgagagat																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:3649898_3649900delGAG	ENST00000382622.3	+	2	592_594	c.202_204delGAG	c.(202-204)gagdel	p.E69del	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_In_Frame_Del_p.E60del	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	69					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			GCTGAACCCAGAGGAGATGACCT	0.581													-	3649900	GAG	-	3649898	7	5	717	1	0	1	0	1	0	0	0	0	12628	943	33	0	208	0	PRMT8	12	3649898	In_Frame_Del	DEL	GAG	TCGA-S9-A6WP-01A-12D-A34A-08		3649898	130201997	26	55008											
MAP3K12	7786	broad.mit.edu	37	chr12	53875958	53875961	+	Frame_Shift_Del	DEL	TAGA	TAGA	-																															tggattctctgagctgaaggTagatagtgactggcgcatgt																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr12:53875958_53875961delTAGA	ENST00000267079.2	-	14	2470_2473	c.2245_2248delTCTA	c.(2245-2250)tctaccfs	p.ST749fs	MAP3K12_ENST00000547035.1_Frame_Shift_Del_p.ST782fs|MAP3K12_ENST00000547488.1_Frame_Shift_Del_p.ST782fs	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12	749					histone phosphorylation|JNK cascade|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|protein autophosphorylation	cytosol|membrane fraction|plasma membrane	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						GAGCTGAAGGTAGATAGTGACTGG	0.52											OREG0021873	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	53875961	TAGA	-	53875958	7	5	717	1	0	1	0	1	0	0	0	0	9321	1638	57	0	339	0	MAP3K12	12	53875958	Frame_Shift_Del	DEL	TAGA	TCGA-S9-A6WP-01A-12D-A34A-08	50226060	53875958	79975937	27	55009											
ACTN1	87	broad.mit.edu	37	chr14	69369214	69369214	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctgggctccagagaaggCgtggtagaagctagacacgt	10	8	14	9	2	1	3	0	0	1	3	2	4	2	3	1	3	1	3	1	3	4	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr14:69369214C>T	ENST00000193403.6	-	8	1125	c.742G>A	c.(742-744)Gcc>Acc	p.A248T	ACTN1_ENST00000554508.1_5'UTR|ACTN1_ENST00000394419.4_Missense_Mutation_p.A248T|ACTN1_ENST00000438964.2_Missense_Mutation_p.A248T|ACTN1_ENST00000538545.2_Missense_Mutation_p.A248T|ACTN1_ENST00000376839.3_Missense_Mutation_p.A183T	NM_001102.3	NP_001093.1	P12814	ACTN1_HUMAN	actinin, alpha 1	248					focal adhesion assembly|negative regulation of cellular component movement|platelet activation|platelet degranulation|regulation of apoptosis	actin cytoskeleton|cytosol|extracellular region|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|sarcomere	actin binding|calcium ion binding|integrin binding|vinculin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(9)|prostate(2)|urinary_tract(1)	27				BRCA - Breast invasive adenocarcinoma(234;0.00605)|all cancers(60;0.00846)|OV - Ovarian serous cystadenocarcinoma(108;0.0654)		CCAGAGAAGGCGTGGTAGAAG	0.577													T	69369214	C	T	69369214	3	4	717	1	0	0	0	0	1	0	0	0	204	768	27	1	2062	1	ACTN1	14	69369214	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		69369214	37980326	28	55010											
DUOX1	53905	broad.mit.edu	37	chr15	45455798	45455800	+	In_Frame_Del	DEL	GGA	GGA	-																															gctgacatcatccgagaggtGgaggagaatgaccaccagga																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:45455798_45455800delGGA	ENST00000321429.4	+	33	4724_4726	c.4317_4319delGGA	c.(4315-4320)gtggag>gtg	p.E1441del	DUOX1_ENST00000389037.3_In_Frame_Del_p.E1441del|CTD-2651B20.1_ENST00000558039.1_lincRNA|DUOX1_ENST00000561166.1_In_Frame_Del_p.E1087del	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1441					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TCCGAGAGGTGGAGGAGAATGAC	0.571											OREG0023103	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	45455800	GGA	-	45455798	7	5	717	1	0	1	0	1	0	0	0	0	4839	1335	47	0	4439	0	DUOX1	15	45455798	In_Frame_Del	DEL	GGA	TCGA-S9-A6WP-01A-12D-A34A-08		45455798	57075594	29	55011											
ACSBG1	23205	broad.mit.edu	37	chr15	78487029	78487029	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctggggtctatgcgcaggCgcacccgcccatcggcccga	6	5	14	16	5	1	0	0	0	1	0	2	1	1	0	3	4	2	3	3	4	1	1	rs148216585		TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr15:78487029C>T	ENST00000258873.4	-	3	477	c.272G>A	c.(271-273)cGc>cAc	p.R91H	ACSBG1_ENST00000541759.1_Intron|ACSBG1_ENST00000560817.1_Intron|ACSBG1_ENST00000558828.1_5'UTR	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	91					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						TATGCGCAGGCGCACCCGCCC	0.632													T	78487029	C	T	78487029	3	4	717	1	0	0	0	0	1	0	0	0	173	768	27	1	1950	1	ACSBG1	15	78487029	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	33031231	78487029	24044363	30	55012											
COG7	91949	broad.mit.edu	37	chr16	23400383	23400383	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggacggctgcaggcccaggGcatccatcacgttgatcaga	9	6	14	12	2	2	2	2	1	0	1	3	3	3	3	2	4	1	4	2	4	0	1			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:23400383G>A	ENST00000307149.5	-	17	2356	c.2171C>T	c.(2170-2172)gCc>gTc	p.A724V		NM_153603.3	NP_705831.1	P83436	COG7_HUMAN	component of oligomeric golgi complex 7	724					intracellular protein transport|protein glycosylation|protein localization in Golgi apparatus|protein stabilization|retrograde vesicle-mediated transport, Golgi to ER	Golgi membrane|Golgi transport complex	protein binding			breast(1)|central_nervous_system(1)|endometrium(7)|large_intestine(9)|liver(1)|lung(7)|urinary_tract(1)	27				GBM - Glioblastoma multiforme(48;0.0401)		CAGGCCCAGGGCATCCATCAC	0.627													A	23400383	G	A	23400383	3	1	717	1	0	0	0	0	1	0	0	0	3694	1203	42	2	145	2	COG7	16	23400383	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		23400383	66954370	31	55013											
RBBP6	5930	broad.mit.edu	37	chr16	24583552	24583553	+	Frame_Shift_Del	DEL	AA	AA	-																															tagcagtgccagctcagcagAaagtcaggacagcaagaaga																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:24583552_24583553delAA	ENST00000319715.4	+	18	5597_5598	c.5165_5166delAA	c.(5164-5166)gaafs	p.E1722fs	RBBP6_ENST00000381039.3_Frame_Shift_Del_p.E882fs|RBBP6_ENST00000348022.2_Frame_Shift_Del_p.E1688fs	NM_006910.4	NP_008841.2	Q7Z6E9	RBBP6_HUMAN	retinoblastoma binding protein 6	1722					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	chromosome|nucleolus|ubiquitin ligase complex	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(1)	46				GBM - Glioblastoma multiforme(48;0.0518)		Agctcagcagaaagtcaggaca	0.485													-	24583553	AA	-	24583552	7	5	717	1	0	1	0	1	0	0	0	0	13191	246	9	0	5289	0	RBBP6	16	24583552	Frame_Shift_Del	DEL	AA	TCGA-S9-A6WP-01A-12D-A34A-08	1183169	24583552	65771201	32	55014											
ITGAX	3687	broad.mit.edu	37	chr16	31371635	31371635	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctttcctgataggcacCgattgttccatgcctcatat	7	15	6	13	1	2	1	1	1	1	0	5	2	4	1	5	1	1	2	5	1	2	5			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:31371635C>T	ENST00000268296.4	+	8	833	c.712C>T	c.(712-714)Cga>Tga	p.R238*	ITGAX_ENST00000562522.1_Nonsense_Mutation_p.R238*	NM_000887.3	NP_000878.2	P20702	ITAX_HUMAN	integrin, alpha X (complement component 3 receptor 4 subunit)	238	VWFA.				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration|organ morphogenesis	integrin complex	protein binding|receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(42)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	77						TGATAGGCACCGATTGTTCCA	0.498													T	31371635	C	T	31371635	4	4	717	1	0	0	0	0	0	1	0	0	7947	644	23	1	742	1	ITGAX	16	31371635	Nonsense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08	6788083	31371635	58983118	33	55015											
HYDIN	54768	broad.mit.edu	37	chr16	70975652	70975652	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccttcagcaggcagaggaggGcggctgcagcattctgagca	9	6	15	11	1	2	2	1	1	1	1	2	3	2	3	1	4	4	6	1	4	0	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr16:70975652G>A	ENST00000393567.2	-	43	6890	c.6740C>T	c.(6739-6741)gCc>gTc	p.A2247V		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	2247										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCAGAGGAGGGCGGCTGCAGC	0.537													A	70975652	G	A	70975652	3	1	717	1	0	0	0	0	1	0	0	0	7525	1203	42	2	8801	2	HYDIN	16	70975652	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	39604017	70975652	19379101	34	55016											
NF1	4763	broad.mit.edu	37	chr17	29556222	29556222	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattctggcctggcaacctaTagcccacccatgggtccagt	9	9	9	14	0	1	0	0	0	1	0	2	0	2	0	5	3	2	1	5	3	4	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29556222T>A	ENST00000358273.4	+	21	2972	c.2589T>A	c.(2587-2589)taT>taA	p.Y863*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Y863*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	863					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TGGCAACCTATAGCCCACCCA	0.502			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29556222	T	A	29556222	4	1	717	1	0	0	0	0	0	1	0	0	10432	1413	49	5	2732	5	NF1	17	29556222	Nonsense_Mutation	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		29556222	51638988	35	55017											
NF1	4763	broad.mit.edu	37	chr17	29562657	29562660	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															agctcgagttctggttactcTgtttgattctcggcatttac																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:29562657_29562660delTGTT	ENST00000358273.4	+	28	4120_4123	c.3737_3740delTGTT	c.(3736-3741)ctgtttfs	p.LF1246fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.LF1246fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1246	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.F1247fs*16(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CTGGTTACTCTGTTTGATTCTCGG	0.412			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29562660	TGTT	-	29562657	7	5	717	1	0	1	0	1	0	0	0	0	10432	1580	55	0	3908	0	NF1	17	29562657	Frame_Shift_Del	DEL	TGTT	TCGA-S9-A6WP-01A-12D-A34A-08	6435	29562657	51632553	36	55018											
GPR179	440435	broad.mit.edu	37	chr17	36489867	36489869	+	In_Frame_Del	DEL	GAA	GAA	-																															gtgactgtgctgtgggtgtgGaagaagaagaggaggagggt																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:36489867_36489869delGAA	ENST00000342292.4	-	9	1857_1859	c.1837_1839delTTC	c.(1837-1839)ttcdel	p.F613del		NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	613						integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TGTGGGTGTGGAAGAAGAAGAGG	0.621											OREG0024354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	36489869	GAA	-	36489867	7	5	717	1	0	1	0	1	0	0	0	0	6728	1165	41	0	5276	0	GPR179	17	36489867	In_Frame_Del	DEL	GAA	TCGA-S9-A6WP-01A-12D-A34A-08	6927210	36489867	44705343	37	55019											
CDC6	990	broad.mit.edu	37	chr17	38451607	38451607	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctatgtcttgtctgaaGgtatctagagatcaggttct	8	17	9	7	0	7	2	1	1	6	1	7	3	7	2	0	2	0	2	0	2	4	6			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:38451607G>A	ENST00000209728.4	+	8	1554		c.e8-1			NM_001254.3	NP_001245.1	Q99741	CDC6_HUMAN	cell division cycle 6						cell division|DNA replication|DNA replication checkpoint|M/G1 transition of mitotic cell cycle|mitosis|negative regulation of cell proliferation|negative regulation of DNA replication|positive regulation of cell cycle cytokinesis|positive regulation of chromosome segregation|regulation of cyclin-dependent protein kinase activity|regulation of mitotic anaphase|regulation of transcription involved in G1/S phase of mitotic cell cycle|S phase of mitotic cell cycle|traversing start control point of mitotic cell cycle	cytosol|nucleoplasm|spindle midzone|spindle pole	ATP binding|kinase binding|nucleoside-triphosphatase activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|prostate(1)|stomach(2)|urinary_tract(1)	21						CTTGTCTGAAGGTATCTAGAG	0.408													A	38451607	G	A	38451607	5	1	717	1	0	0	0	0	0	0	1	0	3113	1014	35	2	1109	2	CDC6	17	38451607	Splice_Site	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	1961740	38451607	42743603	38	55020											
GOSR2	9570	broad.mit.edu	37	chr17	45016041	45016041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgcggctcatcgagaagcGggctttccaggacaagtact	10	8	13	10	3	1	1	1	0	0	1	3	4	2	2	1	3	3	3	1	3	3	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:45016041G>A	ENST00000576910.2	+	5	489	c.413G>A	c.(412-414)cGg>cAg	p.R138Q	GOSR2_ENST00000225567.4_Missense_Mutation_p.R185Q|RP11-156P1.2_ENST00000571841.1_Missense_Mutation_p.R185Q|GOSR2_ENST00000439730.2_Missense_Mutation_p.R185Q|GOSR2_ENST00000393456.2_Missense_Mutation_p.R185Q			O14653	GOSR2_HUMAN	golgi SNAP receptor complex member 2	185					cellular membrane fusion|ER to Golgi vesicle-mediated transport|protein transport	Golgi membrane|integral to membrane	transporter activity			kidney(1)|large_intestine(2)|liver(1)|lung(1)|ovary(1)|skin(1)	7			BRCA - Breast invasive adenocarcinoma(9;0.102)			ATCGAGAAGCGGGCTTTCCAG	0.527													A	45016041	G	A	45016041	3	1	717	1	0	0	0	0	1	0	0	0	6631	1116	39	1	687	1	GOSR2	17	45016041	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	6564434	45016041	36179169	39	55021											
COL1A1	1277	broad.mit.edu	37	chr17	48263208	48263208	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcgcggatctcgatctcgttGgagccctggaggagcagggc	6	7	17	11	4	2	0	0	0	2	0	4	5	2	4	1	5	2	2	1	5	0	1	rs1800219	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr17:48263208G>C	ENST00000225964.5	-	50	4297	c.4179C>G	c.(4177-4179)tcC>tcG	p.S1393S		NM_000088.3	NP_000079	P02452	CO1A1_HUMAN	collagen, type I, alpha 1	1393	Fibrillar collagen NC1.				axon guidance|blood vessel development|collagen biosynthetic process|collagen fibril organization|embryonic skeletal system development|leukocyte migration|platelet activation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell migration|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|protein localization to nucleus|sensory perception of sound|skin morphogenesis|tooth mineralization|visual perception	collagen type I|extracellular space|plasma membrane	identical protein binding|platelet-derived growth factor binding		COL1A1/PDGFB(429)	NS(1)|breast(3)|central_nervous_system(8)|endometrium(3)|kidney(4)|large_intestine(17)|liver(3)|lung(18)|ovary(1)|pancreas(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	71					Collagenase(DB00048)|Palifermin(DB00039)	CGATCTCGTTGGAGCCCTGGA	0.632			T	"PDGFB, USP6"	"dermatofibrosarcoma protuberans, aneurysmal bone cyst "		Osteogenesis imperfecta						C	48263208	G	C	48263208	2	2	717	1	0	0	0	0	0	0	0	1	3708	1335	47	4		4	COL1A1	17	48263208	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	3247167	48263208	32932002	40	55022											
MBD2	8932	broad.mit.edu	37	chr18	51715312	51715312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actaggatgatttgtgacttTggttaccggttgtttgaaaa	10	16	11	4	1	0	3	0	3	0	0	0	4	0	4	1	3	1	3	1	3	4	6			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr18:51715312T>C	ENST00000256429.3	-	3	1000	c.772A>G	c.(772-774)Aaa>Gaa	p.K258E		NM_003927.4	NP_003918.1	Q9UBB5	MBD2_HUMAN	methyl-CpG binding domain protein 2	258					transcription, DNA-dependent		C2H2 zinc finger domain binding|methyl-CpG binding|satellite DNA binding			breast(1)|large_intestine(3)|lung(2)|prostate(1)|urinary_tract(1)	8				Colorectal(16;0.0212)|READ - Rectum adenocarcinoma(32;0.188)	Hexobarbital(DB01355)	TTTGTGACTTTGGTTACCGGT	0.333													C	51715312	T	C	51715312	3	2	717	1	0	0	0	0	1	0	0	0	9418	1821	63	3	479	3	MBD2	18	51715312	Missense_Mutation	SNP	T	TCGA-S9-A6WP-01A-12D-A34A-08		51715312	26361936	41	55023											
TCF3	6929	broad.mit.edu	37	chr19	1623982	1623982	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccggcgggaccttccggaCcttcttgggctgcgtgtctg	3	10	14	14	4	2	0	0	0	2	0	3	2	3	2	4	4	1	1	4	4	0	3			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr19:1623982C>A	ENST00000262965.5	-	8	861	c.517G>T	c.(517-519)Gtc>Ttc	p.V173F	TCF3_ENST00000588136.1_Missense_Mutation_p.V173F|TCF3_ENST00000344749.5_Missense_Mutation_p.V173F|TCF3_ENST00000453954.2_Missense_Mutation_p.V89F|TCF3_ENST00000395423.3_Missense_Mutation_p.V122F	NM_003200.3	NP_003191.1	P15923	TFE2_HUMAN	transcription factor 3	173					B cell lineage commitment|G1 phase of mitotic cell cycle|immunoglobulin V(D)J recombination|muscle cell differentiation|positive regulation of B cell proliferation|positive regulation of cell cycle|positive regulation of muscle cell differentiation|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus|protein complex|transcription factor complex	bHLH transcription factor binding|DNA binding|E-box binding|identical protein binding|mitogen-activated protein kinase kinase kinase binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|vitamin D response element binding			breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	16		Acute lymphoblastic leukemia(61;5.94e-12)|all_hematologic(61;1.27e-07)		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)		ACCTTCCGGACCTTCTTGGGC	0.637			T	"PBX1, HLF, TFPT"	pre B-ALL								A	1623982	C	A	1623982	3	1	717	1	0	0	0	0	1	0	0	0	15794	507	18	4	1726	4	TCF3	19	1623982	Missense_Mutation	SNP	C	TCGA-S9-A6WP-01A-12D-A34A-08		1623982	57505001	42	55024											
NCOA3	8202	broad.mit.edu	37	chr20	46279863	46279863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcagcaGcaacagcaacagcaacagca	17	0	10	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	10	0	0	3	0	rs67218125	byFrequency	TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:46279863G>A	ENST00000372004.3	+	20	3993	c.3777G>A	c.(3775-3777)caG>caA	p.Q1259Q	NCOA3_ENST00000341724.6_Silent_p.Q1189Q|NCOA3_ENST00000371998.3_Silent_p.Q1263Q|NCOA3_ENST00000371997.3_Silent_p.Q1254Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1263	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcaac	0.567													A	46279863	G	A	46279863	2	1	717	1	0	0	0	0	0	0	0	1	10306	962	34	2		2	NCOA3	20	46279863	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		46279863	16745657	43	55025											
TMEM189	387521	broad.mit.edu	37	chr20	48699408	48699408	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggacaactttgatgctatatGaattctgccattttgctagc	10	15	8	8	0	1	2	0	2	1	0	1	3	1	3	1	1	5	2	1	1	5	7			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr20:48699408G>A	ENST00000557021.1	-	8	1170	c.1010C>T	c.(1009-1011)tCa>tTa	p.S337L	UBE2V1_ENST00000371677.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000396059.3_5'UTR|UBE2V1_ENST00000371657.5_Missense_Mutation_p.S72L|UBE2V1_ENST00000340309.3_Missense_Mutation_p.S137L|UBE2V1_ENST00000371674.3_Missense_Mutation_p.S114L|UBE2V1_ENST00000420027.2_Missense_Mutation_p.S70L|UBE2V1_ENST00000415862.2_Missense_Mutation_p.S70L|TMEM189-UBE2V1_ENST00000341698.2_Missense_Mutation_p.S337L	NM_199203.2	NP_954673			transmembrane protein 189											breast(1)|endometrium(2)|large_intestine(3)|lung(2)	8			BRCA - Breast invasive adenocarcinoma(9;3.02e-07)			GATGCTATATGAATTCTGCCA	0.423													A	48699408	G	A	48699408	3	1	717	1	0	0	0	0	1	0	0	0	16211	1294	45	2		2	TMEM189	20	48699408	Missense_Mutation	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	2419545	48699408	14326112	44	55026											
BAGE2	85319	broad.mit.edu	37	chr21	11038990	11038990	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgataactttatagatttGcctccttggtatgaaacatc	12	15	7	7	0	0	3	0	2	0	1	2	4	1	3	2	1	3	1	2	1	5	7			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:11038990G>A	ENST00000470054.1	-	0	1213									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTATAGATTTGCCTCCTTGGT	0.398													A	11038990	G	A	11038990	1	1	717	0	1	0	0	0	0	0	0	0	1297	1334	46	2		2	BAGE2	21	11038990	RNA	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08		11038990	37090905	45	55027											
MCM3AP	8888	broad.mit.edu	37	chr21	47704304	47704304	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccatgtctccttggggaGcgatcctggtcctccttcct	3	13	11	14	1	1	0	0	0	1	0	6	2	5	1	6	4	1	0	6	4	0	2			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47704304G>A	ENST00000397708.1	-	2	1151	c.897C>T	c.(895-897)cgC>cgT	p.R299R	MCM3AP_ENST00000291688.1_Silent_p.R299R			O60318	MCM3A_HUMAN	minichromosome maintenance complex component 3 associated protein	299					DNA replication|protein import into nucleus	cytosol|nucleus	DNA binding|nucleotide binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(5)|large_intestine(17)|lung(24)|ovary(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	72	Breast(49;0.112)					TCCTTGGGGAGCGATCCTGGT	0.577													A	47704304	G	A	47704304	2	1	717	1	0	0	0	0	0	0	0	1	9463	958	34	2		2	MCM3AP	21	47704304	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	36665314	47704304	425591	46	55028											
DIP2A	23181	broad.mit.edu	37	chr21	47959885	47959888	+	Frame_Shift_Del	DEL	CTGA	CTGA	-																															gtgcaagttctcctgaggcgCtgactgtcgccatccgcagg																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chr21:47959885_47959888delCTGA	ENST00000318711.7	+	17	2203_2206	c.2020_2023delCTGA	c.(2020-2025)ctgactfs	p.LT674fs	DIP2A_ENST00000417564.2_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000400274.1_Frame_Shift_Del_p.LT669fs|DIP2A_ENST00000435722.3_Frame_Shift_Del_p.LT673fs|DIP2A_ENST00000427143.2_Frame_Shift_Del_p.LT609fs|DIP2A_ENST00000466639.1_Frame_Shift_Del_p.LT630fs|DIP2A_ENST00000457905.3_Frame_Shift_Del_p.LT673fs	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	673					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCCTGAGGCGCTGACTGTCGCCAT	0.534													-	47959888	CTGA	-	47959885	7	5	717	1	0	1	0	1	0	0	0	0	4566	796	28	0	2083	0	DIP2A	21	47959885	Frame_Shift_Del	DEL	CTGA	TCGA-S9-A6WP-01A-12D-A34A-08	255581	47959885	170010	47	55029											
CXorf22	170063	broad.mit.edu	37	chrX	35985740	35985740	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcaattctataaaaggtatAttgccttcgatccgtaatcc	12	15	5	9	2	2	0	1	0	1	0	5	1	4	0	3	1	1	2	3	1	7	9			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:35985740A>G	ENST00000297866.5	+	10	1671	c.1605A>G	c.(1603-1605)atA>atG	p.I535M		NM_152632.3	NP_689845.2	Q6ZTR5	CX022_HUMAN	chromosome X open reading frame 22	535										breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(3)	44						TAAAAGGTATATTGCCTTCGA	0.323													G	35985740	A	G	35985740	3	3	717	1	0	0	0	0	1	0	0	0	4135	439	16	3	1643	3	CXorf22	23	35985740	Missense_Mutation	SNP	A	TCGA-S9-A6WP-01A-12D-A34A-08		35985740	119284820	48	55030											
PCDH19	57526	broad.mit.edu	37	chrX	99663560	99663562	+	In_Frame_Del	DEL	CAG	CAG	-																															gcctgcgtccacagtatggcCagcagcagcagcaccggcag																										TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:99663560_99663562delCAG	ENST00000373034.4	-	1	1709_1711	c.34_36delCTG	c.(34-36)ctgdel	p.L12del	PCDH19_ENST00000255531.7_In_Frame_Del_p.L12del|PCDH19_ENST00000420881.2_In_Frame_Del_p.L12del	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	12					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACAGTATGGCCAGCAGCAGCAGC	0.665													-	99663562	CAG	-	99663560	7	5	717	1	0	1	0	1	0	0	0	0	11590	581	21	0	3434	0	PCDH19	23	99663560	In_Frame_Del	DEL	CAG	TCGA-S9-A6WP-01A-12D-A34A-08	63677820	99663560	55607000	49	55031											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-S9-A6WP-01A-12D-A34A-08	TCGA-S9-A6WP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b4196c33-5da9-426e-ada5-67f9aee88b70	af25316b-1bef-4cc6-8f82-ffa3065bc7f3	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	717	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-S9-A6WP-01A-12D-A34A-08	50492800	150156360	5114200	50	55032											
MYOM3	127294	broad.mit.edu	37	chr1	24387782	24387782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttcagtctctggtgttcagCcattgcatcctcaaaagcta	9	13	7	12	0	4	0	3	0	1	0	6	0	5	0	2	1	3	3	2	1	3	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:24387782C>T	ENST00000330966.7	-	34	4123	c.3961G>A	c.(3961-3963)Gct>Act	p.A1321T	MYOM3_ENST00000374434.3_Missense_Mutation_p.A1318T|MYOM3_ENST00000338909.5_Missense_Mutation_p.A211T|RP11-293P20.2_ENST00000439239.2_RNA			Q5VTT5	MYOM3_HUMAN	myomesin 3	1318										NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		TGGTGTTCAGCCATTGCATCC	0.512													T	24387782	C	T	24387782	3	4	718	1	0	0	0	0	1	0	0	0	10169	739	26	2	377	2	MYOM3	1	24387782	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		24387782	224862839	1	55033											
FAM167B	84734	broad.mit.edu	37	chr1	32713141	32713141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgcagctgcagactcggcGgccctcatatctggagtgga	7	8	14	12	2	2	1	1	0	1	1	3	3	2	3	1	4	3	4	1	4	1	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:32713141G>A	ENST00000373582.3	+	1	308	c.119G>A	c.(118-120)cGg>cAg	p.R40Q		NM_032648.2	NP_116037.2	Q9BTA0	F167B_HUMAN	family with sequence similarity 167, member B	40										endometrium(1)|large_intestine(1)|lung(1)|ovary(2)	5						CAGACTCGGCGGCCCTCATAT	0.627													A	32713141	G	A	32713141	3	1	718	1	0	0	0	0	1	0	0	0	5529	1116	39	1	121	1	FAM167B	1	32713141	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	8325359	32713141	216537480	2	55034											
LPPR4	9890	broad.mit.edu	37	chr1	99753613	99753613	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctggatttagctgctatgaCcggagtcttagcatgccgta	8	13	11	9	2	2	1	0	1	2	0	2	3	2	3	2	2	4	4	2	2	4	5			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:99753613C>T	ENST00000370185.3	+	2	812	c.315C>T	c.(313-315)gaC>gaT	p.D105D	LPPR4_ENST00000457765.1_Silent_p.D105D	NM_014839.4	NP_055654.2	Q7Z2D5	LPPR4_HUMAN		105							phosphatidate phosphatase activity			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(39)|ovary(3)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	72		all_epithelial(167;3.54e-06)|all_lung(203;0.00139)|Lung NSC(277;0.00202)		Epithelial(280;0.0736)|all cancers(265;0.0975)|COAD - Colon adenocarcinoma(174;0.142)|Lung(183;0.201)|Colorectal(170;0.22)		GCTGCTATGACCGGAGTCTTA	0.458													T	99753613	C	T	99753613	2	4	718	1	0	0	0	0	0	0	0	1	8997	506	18	2		2	LPPR4	1	99753613	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	67040472	99753613	149497008	3	55035											
EXTL2	2135	broad.mit.edu	37	chr1	101343193	101343193	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacaatcactttgtgcagaTttggtacagcctgataatga	12	12	8	9	0	1	3	1	2	0	1	1	3	1	3	2	1	3	2	2	1	3	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:101343193T>C	ENST00000370114.3	-	3	1708	c.272A>G	c.(271-273)aAt>aGt	p.N91S	EXTL2_ENST00000370113.3_Missense_Mutation_p.N91S|EXTL2_ENST00000535414.1_Missense_Mutation_p.N78S	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	91					N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		TTTGTGCAGATTTGGTACAGC	0.418													C	101343193	T	C	101343193	3	2	718	1	0	0	0	0	1	0	0	0	5368	1493	52	3	732	3	EXTL2	1	101343193	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	1589580	101343193	147907428	4	55036											
FLG	2312	broad.mit.edu	37	chr1	152283076	152283076	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagagctttcccctgactggCcacgtgcggactctttgtgg	5	11	12	13	2	1	2	0	1	1	1	2	3	2	3	3	3	2	1	3	3	0	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:152283076C>T	ENST00000368799.1	-	3	4321	c.4286G>A	c.(4285-4287)gGc>gAc	p.G1429D	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1429	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCTGACTGGCCACGTGCGGA	0.557									Ichthyosis				T	152283076	C	T	152283076	3	4	718	1	0	0	0	0	1	0	0	0	5971	739	26	2	7903	2	FLG	1	152283076	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	50939883	152283076	96967545	5	55037											
NSL1	25936	broad.mit.edu	37	chr1	212957773	212957773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttctgggatactgcttacGttttgtggctatatctacta	7	18	8	8	1	2	0	0	0	2	0	2	1	2	1	0	2	4	3	0	2	6	9			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:212957773G>A	ENST00000366977.3	-	3	394	c.376C>T	c.(376-378)Cgt>Tgt	p.R126C	NSL1_ENST00000366975.6_Missense_Mutation_p.R126C|NSL1_ENST00000366978.1_Missense_Mutation_p.R23C|NSL1_ENST00000473995.1_5'UTR|NSL1_ENST00000422588.2_Missense_Mutation_p.R126C|NSL1_ENST00000366976.1_Missense_Mutation_p.R126C	NM_015471.3	NP_056286.3	Q96IY1	NSL1_HUMAN	NSL1, MIS12 kinetochore complex component	126					cell division|chromosome segregation|mitotic prometaphase	cytosol|MIS12/MIND type complex|nucleus	protein binding			breast(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(81;0.00597)|all cancers(67;0.00893)|GBM - Glioblastoma multiforme(131;0.0514)|Epithelial(68;0.102)		TACTGCTTACGTTTTGTGGCT	0.303													A	212957773	G	A	212957773	3	1	718	1	0	0	0	0	1	0	0	0	10749	1145	40	1	574	1	NSL1	1	212957773	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	60674697	212957773	36292848	6	55038											
LBR	3930	broad.mit.edu	37	chr1	225591028	225591028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgtatggaaatatacGgtagggcacacgctgacagt	13	9	13	6	2	0	2	0	1	0	1	0	3	0	3	0	3	1	5	0	3	6	5			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr1:225591028G>A	ENST00000338179.2	-	14	1950	c.1825C>T	c.(1825-1827)Cgt>Tgt	p.R609C	LBR_ENST00000272163.4_Missense_Mutation_p.R609C	NM_194442.2	NP_919424.1	Q14739	LBR_HUMAN	lamin B receptor	609					cholesterol biosynthetic process	integral to nuclear inner membrane	chromo shadow domain binding|delta14-sterol reductase activity|DNA binding|lamin binding|receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	22	Breast(184;0.165)			GBM - Glioblastoma multiforme(131;0.117)		GGAAATATACGGTAGGGCACA	0.438													A	225591028	G	A	225591028	3	1	718	1	0	0	0	0	1	0	0	0	8711	1116	39	1	26	1	LBR	1	225591028	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	12633255	225591028	23659593	7	55039											
TMEM214	54867	broad.mit.edu	37	chr2	27256953	27256953	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agctgcaatccagaccacaaGcaccctttatgagcggggct	11	7	10	13	1	0	2	0	1	0	1	1	2	1	2	3	2	4	4	3	2	3	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:27256953G>A	ENST00000238788.9	+	2	232	c.170G>A	c.(169-171)aGc>aAc	p.S57N	TMEM214_ENST00000404032.3_Missense_Mutation_p.S57N	NM_017727.4	NP_060197.4	Q6NUQ4	TM214_HUMAN	transmembrane protein 214	57						integral to membrane	protein binding			kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(2)	18						CAGACCACAAGCACCCTTTAT	0.542													A	27256953	G	A	27256953	3	1	718	1	0	0	0	0	1	0	0	0	16237	971	34	2	176	2	TMEM214	2	27256953	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		27256953	215942420	8	55040											
INPP4A	3631	broad.mit.edu	37	chr2	99137191	99137191	+	Frame_Shift_Del	DEL	T	T	-																															agcccattttagaatttagcTtaggtaggtatctttcatta																										TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:99137191delT	ENST00000409016.4	+	4	545	c.148delT	c.(148-150)ttafs	p.L50fs	INPP4A_ENST00000523221.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000545415.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409540.3_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409463.1_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000074304.5_Frame_Shift_Del_p.L50fs|INPP4A_ENST00000409851.3_Frame_Shift_Del_p.L50fs			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa		C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						AGAATTTAGCTTAGGTAGGTA	0.303													-	99137191	T	-	99137191	7	5	718	1	0	1	0	1	0	0	0	0	7810	1606	56	0	154	0	INPP4A	2	99137191	Frame_Shift_Del	DEL	T	TCGA-S9-A6WQ-01A-12D-A34A-08	71880238	99137191	144062182	9	55041											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	718	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	109975921	209113112	34086261	10	55042											
PTMA	5757	broad.mit.edu	37	chr2	232574924	232574924	+	Frame_Shift_Del	DEL	G	G	-																															cctgccggggtggcggcagtGgggcgtcgagtcgagagccc																										TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr2:232574924delG	ENST00000410064.1	+	1	434	c.36delG	c.(34-36)gtgfs	p.V12fs	PTMA_ENST00000409683.1_Intron|PTMA_ENST00000466801.1_Intron|PTMA_ENST00000409321.1_Intron|PTMA_ENST00000409115.3_Intron|PTMA_ENST00000341369.7_Intron			P06454	PTMA_HUMAN	prothymosin, alpha	0					transcription, DNA-dependent	nucleus				lung(3)|ovary(1)|prostate(1)|skin(1)	6		Renal(207;0.0112)|all_hematologic(139;0.0315)|Acute lymphoblastic leukemia(138;0.0921)|all_lung(227;0.142)		Epithelial(121;1.75e-12)|BRCA - Breast invasive adenocarcinoma(100;0.00221)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		TGGCGGCAGTGGGGCGTCGAG	0.721													-	232574924	G	-	232574924	7	5	718	1	0	1	0	1	0	0	0	0	12852	1363	47	0		0	PTMA	2	232574924	Frame_Shift_Del	DEL	G	TCGA-S9-A6WQ-01A-12D-A34A-08	23461812	232574924	10624449	11	55043											
FYCO1	79443	broad.mit.edu	37	chr3	46007981	46007981	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcagcccagctacttggcGctccaggccctctcgctccc	4	8	9	20	2	1	0	0	0	1	0	4	0	3	0	4	2	4	4	4	2	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:46007981G>A	ENST00000296137.2	-	8	3050	c.2845C>T	c.(2845-2847)Cgc>Tgc	p.R949C	FYCO1_ENST00000535325.1_Missense_Mutation_p.R949C	NM_024513.3	NP_078789.2	Q9BQS8	FYCO1_HUMAN	FYVE and coiled-coil domain containing 1	949					transport	integral to membrane	metal ion binding|protein binding			NS(4)|breast(3)|central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(17)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	54				BRCA - Breast invasive adenocarcinoma(193;0.00147)|KIRC - Kidney renal clear cell carcinoma(197;0.0272)|Kidney(197;0.0323)		GCTACTTGGCGCTCCAGGCCC	0.652													A	46007981	G	A	46007981	3	1	718	1	0	0	0	0	1	0	0	0	6177	1087	38	1	1635	1	FYCO1	3	46007981	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		46007981	152014449	12	55044											
SEMA3B	7869	broad.mit.edu	37	chr3	50308562	50308563	+	RNA	INS	-	-	G																															ggaaggatagaggatggcaaINSggggaagagtccttatgacc																										TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:50308562_50308563insG	ENST00000418948.1	+	0	728_729							Q13214	SEM3B_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B						axon guidance|cell-cell signaling	endoplasmic reticulum|extracellular region|membrane	receptor activity			central_nervous_system(2)|kidney(1)|lung(2)|skin(1)	6				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		GAGGATGGCAAGGGGAAGAGTC	0.604													G	50308563	-	G	50308562	6	5	718	0	1	1	1	0	0	0	0	0	14118	72	3	0		0	SEMA3B	3	50308562	RNA	INS	-	TCGA-S9-A6WQ-01A-12D-A34A-08	4300581	50308562	147713868	13	55045											
ATR	545	broad.mit.edu	37	chr3	142281245	142281245	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagacttaagccgcatgagCacaccgtcttcaaacatgac	13	8	7	13	2	3	3	2	2	1	1	3	3	3	3	2	0	3	2	2	0	2	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr3:142281245C>T	ENST00000350721.4	-	4	1120	c.999G>A	c.(997-999)gtG>gtA	p.V333V	ATR_ENST00000383101.3_Silent_p.V333V	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	333					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						GCCGCATGAGCACACCGTCTT	0.388								Other conserved DNA damage response genes					T	142281245	C	T	142281245	2	4	718	1	0	0	0	0	0	0	0	1	1209	697	25	2		2	ATR	3	142281245	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	91972683	142281245	55741185	14	55046											
GAR1	54433	broad.mit.edu	37	chr4	110739221	110739221	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaattggaaaagtggatgAaatatttggacaactcagag	18	9	10	4	0	1	2	1	1	0	1	1	5	1	5	0	3	1	0	0	3	6	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:110739221A>C	ENST00000226796.6	+	3	608	c.344A>C	c.(343-345)gAa>gCa	p.E115A	GAR1_ENST00000394631.3_Missense_Mutation_p.E115A	NM_018983.3	NP_061856.1	Q9NY12	GAR1_HUMAN	GAR1 ribonucleoprotein	115					rRNA processing|snRNA pseudouridine synthesis	box H/ACA snoRNP complex|Cajal body	cation channel activity|pseudouridine synthase activity|snoRNA binding			kidney(1)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)	9						AAAGTGGATGAAATATTTGGA	0.333													C	110739221	A	C	110739221	3	2	718	1	0	0	0	0	1	0	0	0	6294	246	9	5	350	5	GAR1	4	110739221	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08		110739221	80415055	15	55047											
DCHS2	54798	broad.mit.edu	37	chr4	155176790	155176790	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagaatactcaatcaggccGttcaaaccactgtccaagtc	14	9	6	12	1	3	1	3	0	0	1	5	1	4	1	3	1	2	1	3	1	6	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr4:155176790G>A	ENST00000357232.4	-	21	5456	c.5457C>T	c.(5455-5457)aaC>aaT	p.N1819N		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 16.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		CAATCAGGCCGTTCAAACCAC	0.408													A	155176790	G	A	155176790	2	1	718	1	0	0	0	0	0	0	0	1	4322	1136	40	1		1	DCHS2	4	155176790	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	44437569	155176790	35977486	16	55048											
RHAG	6005	broad.mit.edu	37	chr6	49583444	49583444	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagccaagccaaagtaggccCcaaaggcatggatcgtcatt	13	6	10	12	1	1	0	1	0	0	0	2	1	1	1	4	3	2	2	4	3	4	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:49583444C>T	ENST00000371175.4	-	4	559	c.533G>A	c.(532-534)gGg>gAg	p.G178E	RHAG_ENST00000229810.7_Missense_Mutation_p.G178E	NM_000324.2	NP_000315.2	Q02094	RHAG_HUMAN	Rh-associated glycoprotein	178					carbon dioxide transport|cellular ion homeostasis	integral to plasma membrane	ammonia transmembrane transporter activity|ammonium transmembrane transporter activity|ankyrin binding			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	39	Lung NSC(77;0.0255)					AAAGTAGGCCCCAAAGGCATG	0.468													T	49583444	C	T	49583444	3	4	718	1	0	0	0	0	1	0	0	0	13404	623	22	2	724	2	RHAG	6	49583444	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		49583444	121531623	17	55049											
SYNE1	23345	broad.mit.edu	37	chr6	152706891	152706891	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagttcttcctttgctgaaTggagccaatctgtgaactcg	9	13	10	9	1	2	2	0	2	2	0	4	4	3	3	2	1	3	2	2	1	4	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr6:152706891T>C	ENST00000367255.5	-	55	9171	c.8570A>G	c.(8569-8571)cAt>cGt	p.H2857R	SYNE1_ENST00000448038.1_Missense_Mutation_p.H2864R|SYNE1_ENST00000341594.5_Missense_Mutation_p.H2896R|SYNE1_ENST00000265368.4_Missense_Mutation_p.H2857R|SYNE1_ENST00000423061.1_Missense_Mutation_p.H2864R	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	2857					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)		CTTTGCTGAATGGAGCCAATC	0.388										HNSCC(10;0.0054)			C	152706891	T	C	152706891	3	2	718	1	0	0	0	0	1	0	0	0	15542	1464	51	3	18264	3	SYNE1	6	152706891	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	103123447	152706891	18408176	18	55050											
EGFR	1956	broad.mit.edu	37	chr7	55270224	55270224	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagctgcaaagctgtccCatcaaggaagacagcttctt	11	9	9	12	0	2	1	1	0	1	1	3	2	3	2	1	1	5	5	1	1	3	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:55270224C>T	ENST00000275493.2	+	27	3354	c.3177C>T	c.(3175-3177)ccC>ccT	p.P1059P	EGFR_ENST00000455089.1_Silent_p.P1014P|EGFR_ENST00000454757.2_Silent_p.P1006P|EGFR_ENST00000442591.1_Intron	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	1059	Ser-rich.				activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AAAGCTGTCCCATCAAGGAAG	0.547		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55270224	C	T	55270224	2	4	718	1	0	0	0	0	0	0	0	1	5006	581	21	2		2	EGFR	7	55270224	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		55270224	103868439	19	55051											
CPA2	1358	broad.mit.edu	37	chr7	129906767	129906767	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttggtgccctttttgggcatAtctactgtctagaaacattt	8	17	8	8	0	2	1	0	0	2	1	2	1	2	1	1	2	3	1	1	2	4	7			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:129906767A>G	ENST00000222481.4	+	1	101	c.46A>G	c.(46-48)Atc>Gtc	p.I16V		NM_001869.2	NP_001860.2	P48052	CBPA2_HUMAN	carboxypeptidase A2 (pancreatic)	16					proteolysis|vacuolar protein catabolic process	extracellular region|vacuole	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14	Melanoma(18;0.0435)					TTTTGGGCATATCTACTGTCT	0.403													G	129906767	A	G	129906767	3	3	718	1	0	0	0	0	1	0	0	0	3821	449	16	3	48	3	CPA2	7	129906767	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	74636543	129906767	29231896	20	55052											
LMBR1	64327	broad.mit.edu	37	chr7	156555850	156555850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tatacaggaatataaataggGtagatagaactcccagagat	18	9	9	5	0	0	3	0	0	0	3	1	5	1	4	1	2	2	1	1	2	10	7			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr7:156555850G>A	ENST00000353442.5	-	7	807	c.571C>T	c.(571-573)Ccc>Tcc	p.P191S	LMBR1_ENST00000359422.4_Missense_Mutation_p.P39S|LMBR1_ENST00000354505.4_Missense_Mutation_p.P191S|LMBR1_ENST00000540390.1_Missense_Mutation_p.P170S	NM_022458.3	NP_071903.2	Q8WVP7	LMBR1_HUMAN	limb development membrane protein 1							integral to membrane	receptor activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|skin(1)	18	Ovarian(565;0.218)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.00231)	UCEC - Uterine corpus endometrioid carcinoma (81;0.208)		TATAAATAGGGTAGATAGAAC	0.279													A	156555850	G	A	156555850	3	1	718	1	0	0	0	0	1	0	0	0	8901	1261	44	2	945	2	LMBR1	7	156555850	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	26649083	156555850	2582813	21	55053											
GLIS3	169792	broad.mit.edu	37	chr9	3937135	3937135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttctcgcctgtgtggctccGcaagtggatcttgagatttt	5	15	11	10	2	2	1	0	1	2	1	4	3	3	2	2	2	0	2	2	2	1	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:3937135G>A	ENST00000324333.10	-	4	1493	c.1300C>T	c.(1300-1302)Cgg>Tgg	p.R434W	GLIS3_ENST00000381971.3_Missense_Mutation_p.R589W|GLIS3_ENST00000461870.1_5'UTR	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	434					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GTGTGGCTCCGCAAGTGGATC	0.498													A	3937135	G	A	3937135	3	1	718	1	0	0	0	0	1	0	0	0	6503	1086	38	1	1055	1	GLIS3	9	3937135	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		3937135	137276296	22	55054											
EHMT1	79813	broad.mit.edu	37	chr9	140728828	140728828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtttactgcatcgacgcgCggttctacgggaacgtcagc	8	9	13	11	6	2	0	1	0	1	0	3	2	2	1	0	3	5	3	0	3	3	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr9:140728828C>T	ENST00000460843.1	+	26	3595	c.3568C>T	c.(3568-3570)Cgg>Tgg	p.R1190W		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	1190	SET.				DNA methylation|embryo development|peptidyl-lysine dimethylation|peptidyl-lysine monomethylation	chromosome|nucleus	histone methyltransferase activity (H3-K27 specific)|histone methyltransferase activity (H3-K9 specific)|p53 binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		CATCGACGCGCGGTTCTACGG	0.682													T	140728828	C	T	140728828	3	4	718	1	0	0	0	0	1	0	0	0	5022	759	27	1	3719	1	EHMT1	9	140728828	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	136791693	140728828	484603	23	55055											
ITPRIP	85450	broad.mit.edu	37	chr10	106075684	106075684	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcttctcctggtgcgcCtgcatcttgcggatgatctc	4	13	11	13	2	3	1	0	1	3	0	5	2	3	2	2	2	5	3	2	2	0	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr10:106075684C>G	ENST00000278071.2	-	3	578	c.126G>C	c.(124-126)caG>caC	p.Q42H	ITPRIP_ENST00000358187.2_Missense_Mutation_p.Q42H|ITPRIP_ENST00000337478.1_Missense_Mutation_p.Q42H	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	42						plasma membrane				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						CCTGGTGCGCCTGCATCTTGC	0.657													G	106075684	C	G	106075684	3	3	718	1	0	0	0	0	1	0	0	0	7981	680	24	4	1521	4	ITPRIP	10	106075684	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		106075684	29459063	24	55056											
NLRP6	171389	broad.mit.edu	37	chr11	284541	284541	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcttcggcagagccctgcCctgaccaccctggatctcag	7	8	10	16	1	1	2	1	1	1	1	3	3	1	3	4	2	3	2	4	2	0	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:284541C>T	ENST00000534750.1	+	7	2641	c.2436C>T	c.(2434-2436)gcC>gcT	p.A812A	NLRP6_ENST00000312165.5_Silent_p.A813A	NM_001276700.1	NP_001263629.1	P59044	NALP6_HUMAN	NLR family, pyrin domain containing 6	813						cytoplasm	ATP binding			breast(1)|skin(1)|upper_aerodigestive_tract(2)	4		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.28e-28)|Epithelial(43;2.47e-27)|OV - Ovarian serous cystadenocarcinoma(40;4.66e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.0485)|LUSC - Lung squamous cell carcinoma(625;0.122)		AGAGCCCTGCCCTGACCACCC	0.672													T	284541	C	T	284541	2	4	718	1	0	0	0	0	0	0	0	1	10557	610	22	2		2	NLRP6	11	284541	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		284541	134721975	25	55057											
OR51F2	119694	broad.mit.edu	37	chr11	4843026	4843026	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatggcctttgatcgtttTgtggccatctgttacccact	5	15	9	12	1	1	1	0	1	1	0	2	1	1	1	4	2	1	2	4	2	1	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:4843026T>G	ENST00000322110.5	+	1	476	c.411T>G	c.(409-411)ttT>ttG	p.F137L	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004753.1	NP_001004753.1	Q8NH61	O51F2_HUMAN	olfactory receptor, family 51, subfamily F, member 2	137					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(4)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.0778)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		TTGATCGTTTTGTGGCCATCT	0.453													G	4843026	T	G	4843026	3	3	718	1	0	0	0	0	1	0	0	0	11173	1809	63	5	413	5	OR51F2	11	4843026	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	4558485	4843026	130163490	26	55058											
CTR9	9646	broad.mit.edu	37	chr11	10785379	10785379	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaactatgaaaattctcggcTctctctatgctgcctcagaa	12	12	6	11	1	4	2	1	1	3	1	6	2	4	2	1	1	3	2	1	1	6	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:10785379T>G	ENST00000361367.2	+	9	1573	c.1147T>G	c.(1147-1149)Tct>Gct	p.S383A		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	383					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		AATTCTCGGCTCTCTCTATGC	0.353													G	10785379	T	G	10785379	3	3	718	1	0	0	0	0	1	0	0	0	4057	1551	54	5	1181	5	CTR9	11	10785379	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	5942353	10785379	124221137	27	55059											
SSSCA1	10534	broad.mit.edu	37	chr11	65337966	65337966	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcggtgacaacggcaacatgGccctgaacggagctggtgag	10	5	16	10	3	0	3	0	3	0	0	0	4	0	4	1	5	4	2	1	5	3	0	rs139666819		TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:65337966G>A	ENST00000526877.1	+	1	9	c.4G>A	c.(4-6)Gcc>Acc	p.A2T	SSSCA1_ENST00000309328.3_Missense_Mutation_p.A2T|SSSCA1_ENST00000527920.1_5'UTR|SSSCA1_ENST00000531405.1_5'UTR			O60232	SSA27_HUMAN	Sjogren syndrome/scleroderma autoantigen 1	2					cell division|mitosis		protein binding			kidney(1)|lung(4)|ovary(1)|prostate(1)|skin(1)	8						CGGCAACATGGCCCTGAACGG	0.677													A	65337966	G	A	65337966	3	1	718	1	0	0	0	0	1	0	0	0	15291	1203	42	2	6	2	SSSCA1	11	65337966	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	54552587	65337966	69668550	28	55060											
PELI3	246330	broad.mit.edu	37	chr11	66243444	66243444	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaggaggccggcctctgcCtggaccctgggccgcctagc	4	5	15	17	2	1	0	0	0	1	0	1	2	1	2	7	5	2	0	7	5	1	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:66243444C>T	ENST00000349459.6	+	7	1428	c.1144C>T	c.(1144-1146)Ctg>Ttg	p.L382L	PELI3_ENST00000531856.1_3'UTR|CTD-3074O7.5_ENST00000533502.1_RNA|PELI3_ENST00000320740.7_Silent_p.L406L|CTD-3074O7.5_ENST00000527092.1_RNA	NM_001098510.1	NP_001091980.1	Q8N2H9	PELI3_HUMAN	pellino E3 ubiquitin protein ligase family member 3	406						cytosol	protein binding			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|skin(1)	15						CGGCCTCTGCCTGGACCCTGG	0.692													T	66243444	C	T	66243444	2	4	718	1	0	0	0	0	0	0	0	1	11799	680	24	2		2	PELI3	11	66243444	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	905478	66243444	68763072	29	55061											
RELT	84957	broad.mit.edu	37	chr11	73103387	73103387	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccagtacgcggtcatcGccatcgtccctgtcttctgc	4	10	9	18	5	3	0	1	0	2	0	6	0	4	0	4	1	2	1	4	1	1	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr11:73103387G>A	ENST00000064780.2	+	6	760	c.499G>A	c.(499-501)Gcc>Acc	p.A167T	RELT_ENST00000393580.2_Missense_Mutation_p.A167T	NM_152222.1	NP_689408.1	Q969Z4	TR19L_HUMAN	RELT tumor necrosis factor receptor	167						cytoplasm|integral to membrane|plasma membrane	binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)	12						CGCGGTCATCGCCATCGTCCC	0.677													A	73103387	G	A	73103387	3	1	718	1	0	0	0	0	1	0	0	0	13309	1087	38	1	517	1	RELT	11	73103387	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	6859943	73103387	61903129	30	55062											
PCBP2	5094	broad.mit.edu	37	chr12	53849149	53849149	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaagttggcagtatcatcGgaaaggtaagacaatttcac	15	9	11	6	1	2	1	2	0	0	1	3	3	2	3	0	4	0	4	0	4	5	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr12:53849149G>A	ENST00000603815.1	+	3	438	c.88G>A	c.(88-90)Gga>Aga	p.G30R	PCBP2_ENST00000548933.1_Missense_Mutation_p.G30R|PCBP2_ENST00000546463.1_Missense_Mutation_p.G30R|PCBP2_ENST00000359462.5_Missense_Mutation_p.G30R|PCBP2_ENST00000552296.2_Missense_Mutation_p.G30R|PCBP2_ENST00000552819.1_Missense_Mutation_p.G30R|PCBP2_ENST00000437231.1_Missense_Mutation_p.G30R|PCBP2_ENST00000439930.3_Missense_Mutation_p.G30R|PCBP2_ENST00000359282.5_Missense_Mutation_p.G30R|PCBP2_ENST00000549863.1_Missense_Mutation_p.G30R|PCBP2_ENST00000455667.3_Missense_Mutation_p.G30R|PCBP2_ENST00000447282.1_Missense_Mutation_p.G30R|PCBP2_ENST00000541275.1_Missense_Mutation_p.G30R|RP11-793H13.8_ENST00000547717.1_RNA	NM_001128911.1|NM_001128912.1|NM_005016.5|NM_031989.4	NP_001122383.1|NP_001122384.1|NP_005007.2|NP_114366.1	Q15366	PCBP2_HUMAN	poly(rC) binding protein 2	30	KH 1.				innate immune response|negative regulation of defense response to virus|negative regulation of type I interferon production|nuclear mRNA splicing, via spliceosome|proteasomal ubiquitin-dependent protein catabolic process|response to virus	cytosol|nucleoplasm|ribonucleoprotein complex	DNA binding|RNA binding|ubiquitin protein ligase binding			central_nervous_system(4)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	15						CAGTATCATCGGAAAGGTAAG	0.338													A	53849149	G	A	53849149	3	1	718	1	0	0	0	0	1	0	0	0	11577	1117	39	1	94	1	PCBP2	12	53849149	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		53849149	80002746	31	55063											
MGA	23269	broad.mit.edu	37	chr15	41961363	41961363	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggaatgagttctatcatCgaagcacagagatgattctg	12	12	11	6	1	3	3	1	2	2	1	4	6	3	4	0	1	1	2	0	1	3	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:41961363C>T	ENST00000219905.7	+	2	452	c.271C>T	c.(271-273)Cga>Tga	p.R91*	MGA_ENST00000568630.1_Intron|MGA_ENST00000566586.1_Nonsense_Mutation_p.R91*|MGA_ENST00000545763.1_Nonsense_Mutation_p.R91*|MGA_ENST00000389936.4_Nonsense_Mutation_p.R91*|MGA_ENST00000570161.1_Nonsense_Mutation_p.R91*	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	91						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		GTTCTATCATCGAAGCACAGA	0.383													T	41961363	C	T	41961363	4	4	718	1	0	0	0	0	0	1	0	0	9615	876	31	1	273	1	MGA	15	41961363	Nonsense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		41961363	60570029	32	55064											
NEO1	4756	broad.mit.edu	37	chr15	73536774	73536774	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgtacatctttagagttaTggctcaaaataagcatggct	12	13	9	7	1	2	1	1	0	1	1	2	1	2	1	0	2	2	5	0	2	6	5			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr15:73536774T>C	ENST00000339362.5	+	10	1988	c.1541T>C	c.(1540-1542)aTg>aCg	p.M514T	NEO1_ENST00000261908.6_Missense_Mutation_p.M514T|NEO1_ENST00000558964.1_Missense_Mutation_p.M514T|NEO1_ENST00000560352.1_3'UTR|NEO1_ENST00000560262.1_Missense_Mutation_p.M514T			Q92859	NEO1_HUMAN	neogenin 1	514	Fibronectin type-III 1.				axon guidance|cell adhesion|positive regulation of muscle cell differentiation	Golgi apparatus|integral to plasma membrane|nucleus				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(9)|lung(26)|pancreas(2)|prostate(1)|skin(3)|urinary_tract(2)	57						TTTAGAGTTATGGCTCAAAAT	0.473													C	73536774	T	C	73536774	3	2	718	1	0	0	0	0	1	0	0	0	10412	1464	51	3	1575	3	NEO1	15	73536774	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	31575411	73536774	28994618	33	55065											
RPS2	6187	broad.mit.edu	37	chr16	2012755	2012755	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	accttgcaagggacagtgtgGggcttgccgatcttgttccc	6	11	13	11	1	1	0	0	0	1	0	2	2	2	1	3	3	2	3	3	3	1	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:2012755G>A	ENST00000529806.1	-	3	627	c.441C>T	c.(439-441)ccC>ccT	p.P147P	RPS2_ENST00000526522.1_Intron|RPS2_ENST00000343262.4_Silent_p.P177P|RPS2_ENST00000530225.1_Silent_p.P177P			P15880	RS2_HUMAN	ribosomal protein S2	177	S5 DRBM.				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit|nucleoplasm	fibroblast growth factor 1 binding|fibroblast growth factor 3 binding|RNA binding|structural constituent of ribosome			endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(2)	7						GGACAGTGTGGGGCTTGCCGA	0.672													A	2012755	G	A	2012755	2	1	718	1	0	0	0	0	0	0	0	1	13722	1219	43	2		2	RPS2	16	2012755	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		2012755	88341998	34	55066											
SNX20	124460	broad.mit.edu	37	chr16	50707378	50707378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcctcggggcgtgggcctcCggagctggctctcctccagc	2	8	15	16	3	1	0	0	0	1	0	5	1	3	1	5	5	3	2	5	5	0	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:50707378C>T	ENST00000330943.4	-	4	1061	c.890G>A	c.(889-891)cGg>cAg	p.R297Q	SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	297					cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGTGGGCCTCCGGAGCTGGCT	0.667													T	50707378	C	T	50707378	3	4	718	1	0	0	0	0	1	0	0	0	14986	652	23	1	207	1	SNX20	16	50707378	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	48694623	50707378	39647375	35	55067											
PSMB10	5699	broad.mit.edu	37	chr16	67970346	67970346	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccggtcttgcgtgcgtgAgggaccttgagccccgggag	4	8	17	12	4	1	2	0	2	1	0	2	4	2	4	4	3	3	0	4	3	0	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr16:67970346A>T	ENST00000358514.4	-	2	436	c.99T>A	c.(97-99)ccT>ccA	p.P33P		NM_002801.3	NP_002792.1	P40306	PSB10_HUMAN	proteasome (prosome, macropain) subunit, beta type, 10	33					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|humoral immune response|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity			NS(2)|endometrium(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00415)|Epithelial(162;0.0182)|all cancers(182;0.119)		TGCGTGCGTGAGGGACCTTGA	0.637													T	67970346	A	T	67970346	2	4	718	1	0	0	0	0	0	0	0	1	12760	291	11	5		5	PSMB10	16	67970346	Silent	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	17262968	67970346	22384407	36	55068											
TP53	7157	broad.mit.edu	37	chr17	7577102	7577102	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgtgcgccggtctctcCcaggacaggcacaaacacgc	8	6	10	17	3	2	0	0	0	2	0	4	1	3	1	3	3	2	1	3	3	1	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7577102C>T	ENST00000420246.2	-	8	968	c.836G>A	c.(835-837)gGg>gAg	p.G279E	TP53_ENST00000359597.4_Missense_Mutation_p.G279E|TP53_ENST00000455263.2_Missense_Mutation_p.G279E|TP53_ENST00000269305.4_Missense_Mutation_p.G279E|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.G279E	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	279	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		G -> E (in sporadic cancers; somatic mutation).|G -> R (in sporadic cancers; somatic mutation).|G -> V (in sporadic cancers; somatic mutation).|G -> W (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.G279E(32)|p.0?(8)|p.G279V(4)|p.?(2)|p.G279fs*65(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.G279_R280delGR(1)|p.F270_D281del12(1)|p.G279fs*59(1)|p.R280fs*62(1)|p.G279fs*26(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CCGGTCTCTCCCAGGACAGGC	0.547		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)			T	7577102	C	T	7577102	3	4	718	1	0	0	0	0	1	0	0	0	16482	623	22	2	450	2	TP53	17	7577102	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		7577102	73618108	37	55069											
TP53	7157	broad.mit.edu	37	chr17	7578395	7578395	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctatctgagcagcgctcatGgtgggggcagcgcctcacaa	8	7	14	12	2	3	1	2	1	1	0	3	1	3	1	1	3	3	4	1	3	2	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:7578395G>C	ENST00000420246.2	-	5	667	c.535C>G	c.(535-537)Cat>Gat	p.H179D	TP53_ENST00000359597.4_Missense_Mutation_p.H179D|TP53_ENST00000455263.2_Missense_Mutation_p.H179D|TP53_ENST00000269305.4_Missense_Mutation_p.H179D|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.H179D|TP53_ENST00000445888.2_Missense_Mutation_p.H179D	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	179	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> L (in sporadic cancers; somatic mutation).|H -> N (in sporadic cancers; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (in LFS; germline mutation and in sporadic cancers; somatic mutation).|HH -> QS (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.H179Y(98)|p.H179N(16)|p.H179D(13)|p.P177_C182delPHHERC(8)|p.0?(8)|p.H47Y(6)|p.H86Y(6)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.H178_S183delHHERCS(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.H179fs*68(1)|p.C176fs*65(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.H179del(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.H46_S51delHHERCS(1)|p.H178fs*6(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.H85_S90delHHERCS(1)|p.H47D(1)|p.R174fs*3(1)|p.H86D(1)|p.H178_H179>QY(1)|p.H47N(1)|p.H86N(1)|p.E171fs*61(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)		CAGCGCTCATGGTGGGGGCAG	0.642		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)			C	7578395	G	C	7578395	3	2	718	1	0	0	0	0	1	0	0	0	16482	1348	47	4	763	4	TP53	17	7578395	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	1293	7578395	73616815	38	55070											
ZNF624	57547	broad.mit.edu	37	chr17	16537944	16537944	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agaagagaagttatccttacCcagggagaccagattcctgt	13	9	10	9	0	0	4	0	0	0	4	2	6	2	4	4	1	1	1	4	1	4	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:16537944C>T	ENST00000311331.7	-	4	371	c.280G>A	c.(280-282)Ggg>Agg	p.G94R	ZNF624_ENST00000579983.1_5'UTR	NM_020787.3	NP_065838.2	Q9P2J8	ZN624_HUMAN	zinc finger protein 624	94	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	26				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		TTATCCTTACCCAGGGAGACC	0.433													T	16537944	C	T	16537944	5	4	718	1	0	0	0	0	0	0	1	0	18149	637	22	2	2329	2	ZNF624	17	16537944	Splice_Site	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	8959549	16537944	64657266	39	55071											
UNC45B	146862	broad.mit.edu	37	chr17	33498419	33498419	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctacgatgtcaaggaggtcAtcccagagcttgtccagctc	9	9	11	12	1	2	1	2	0	0	1	5	3	4	2	2	2	3	3	2	2	2	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr17:33498419A>G	ENST00000268876.5	+	13	1871	c.1774A>G	c.(1774-1776)Atc>Gtc	p.I592V	UNC45B_ENST00000591048.1_Missense_Mutation_p.I511V|UNC45B_ENST00000433649.1_Missense_Mutation_p.I590V|UNC45B_ENST00000378449.1_Missense_Mutation_p.I511V|UNC45B_ENST00000394570.2_Missense_Mutation_p.I590V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	592					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				CAAGGAGGTCATCCCAGAGCT	0.607											OREG0024327	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	33498419	A	G	33498419	3	3	718	1	0	0	0	0	1	0	0	0	17091	217	8	3	1820	3	UNC45B	17	33498419	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	16960475	33498419	47696791	40	55072											
TWSG1	57045	broad.mit.edu	37	chr18	9359985	9359985	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaggagctctgccagtgcCggccgggagaaggcaattgc	8	7	15	11	2	2	1	0	0	2	1	2	3	2	2	3	4	4	2	3	4	3	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:9359985C>T	ENST00000262120.5	+	3	330	c.139C>T	c.(139-141)Cgg>Tgg	p.R47W	TWSG1_ENST00000581641.1_Missense_Mutation_p.R47W	NM_020648.5	NP_065699.1	Q9GZX9	TWSG1_HUMAN	twisted gastrulation BMP signaling modulator 1	47	Cys-rich.									breast(1)|endometrium(2)|large_intestine(3)|lung(1)|ovary(1)|pancreas(2)	10						CTGCCAGTGCCGGCCGGGAGA	0.448													T	9359985	C	T	9359985	3	4	718	1	0	0	0	0	1	0	0	0	16887	643	23	1	145	1	TWSG1	18	9359985	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08		9359985	68717263	41	55073											
CCBE1	147372	broad.mit.edu	37	chr18	57136753	57136753	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgtctctcccggtcatatcGgtatcccggataacaagtac	9	11	9	12	3	2	0	1	0	1	0	6	1	4	1	2	3	2	2	2	3	5	4			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr18:57136753G>A	ENST00000439986.4	-	4	389	c.352C>T	c.(352-354)Cga>Tga	p.R118*	CCBE1_ENST00000398179.2_5'UTR	NM_133459.3	NP_597716.1	Q6UXH8	CCBE1_HUMAN	collagen and calcium binding EGF domains 1	118					lymphangiogenesis|sprouting angiogenesis|venous blood vessel morphogenesis	collagen	calcium ion binding			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(3)	24		Colorectal(73;0.175)				CGGTCATATCGGTATCCCGGA	0.517													A	57136753	G	A	57136753	4	1	718	1	0	0	0	0	0	1	0	0	2757	1124	39	1	900	1	CCBE1	18	57136753	Nonsense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	47776768	57136753	20940495	42	55074											
AKAP8	10270	broad.mit.edu	37	chr19	15472604	15472604	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aattcctgacgccgcttctcAattttcttatttctgtttac	7	19	4	11	2	3	1	1	1	3	0	5	1	4	1	2	0	1	2	2	0	4	8			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:15472604A>C	ENST00000269701.2	-	11	1392	c.1332T>G	c.(1330-1332)atT>atG	p.I444M		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	444					signal transduction	nuclear matrix				breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						GCCGCTTCTCAATTTTCTTAT	0.448													C	15472604	A	C	15472604	3	2	718	1	0	0	0	0	1	0	0	0	457	126	5	5	762	5	AKAP8	19	15472604	Missense_Mutation	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08		15472604	43656379	43	55075											
POLD1	5424	broad.mit.edu	37	chr19	50910398	50910398	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacctgctcagtcgtggccaGcaggtcaaggtcgtatccca	8	9	11	13	2	2	0	2	0	0	0	5	0	3	0	3	3	3	3	3	3	3	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:50910398G>A	ENST00000440232.2	+	13	1706	c.1653G>A	c.(1651-1653)caG>caA	p.Q551Q	POLD1_ENST00000599857.1_Silent_p.Q551Q|POLD1_ENST00000595904.1_Silent_p.Q551Q	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	551					base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GTCGTGGCCAGCAGGTCAAGG	0.662								DNA polymerases (catalytic subunits)					A	50910398	G	A	50910398	2	1	718	1	0	0	0	0	0	0	0	1	12267	962	34	2		2	POLD1	19	50910398	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	35437794	50910398	8218585	44	55076											
ZNF347	84671	broad.mit.edu	37	chr19	53644840	53644840	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagtgatttgtaaggtgtGaattttgagtgaagaccttg	10	15	12	4	0	0	5	0	4	0	1	1	5	1	5	2	1	0	1	2	1	3	5			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr19:53644840G>T	ENST00000452676.2	-	5	1670	c.1244C>A	c.(1243-1245)tCa>tAa	p.S415*	ZNF347_ENST00000334197.7_Nonsense_Mutation_p.S414*|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Nonsense_Mutation_p.S415*	NM_001172674.1	NP_001166145.1	Q96SE7	ZN347_HUMAN	zinc finger protein 347	414					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		TGTAAGGTGTGAATTTTGAGT	0.428													T	53644840	G	T	53644840	4	4	718	1	0	0	0	0	0	1	0	0	17962	1294	45	4	1282	4	ZNF347	19	53644840	Nonsense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	2734442	53644840	5484143	45	55077											
NKX2-2	4821	broad.mit.edu	37	chr20	21492758	21492759	+	Frame_Shift_Del	DEL	CC	CC	-																															acatggtttgccgtccctgaCcaagacgggcacggccaccc																										TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:21492758_21492759delCC	ENST00000377142.4	-	2	980_981	c.624_625delGG	c.(622-627)ttggtcfs	p.LV208fs	NKX2-2-AS1_ENST00000549659.1_RNA	NM_002509.3	NP_002500.1	O95096	NKX22_HUMAN	NK2 homeobox 2	208					brain development|positive regulation of sequence-specific DNA binding transcription factor activity	nucleus	chromatin binding|core promoter proximal region DNA binding|transcription coactivator activity			endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						CCGTCCCTGACCAAGACGGGCA	0.668													-	21492759	CC	-	21492758	7	5	718	1	0	1	0	1	0	0	0	0	10526	507	18	0	200	0	NKX2-2	20	21492758	Frame_Shift_Del	DEL	CC	TCGA-S9-A6WQ-01A-12D-A34A-08		21492758	41532762	46	55078											
TPD52L2	7165	broad.mit.edu	37	chr20	62500710	62500710	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccatgacggatgttcctgtCgacacaggtgtggctgcccg	6	10	13	12	3	0	1	0	1	0	0	3	3	2	2	3	3	1	2	3	3	0	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr20:62500710C>T	ENST00000217121.5	+	2	153	c.81C>T	c.(79-81)gtC>gtT	p.V27V	TPD52L2_ENST00000348257.5_Silent_p.V27V|TPD52L2_ENST00000352482.4_Silent_p.V27V|TPD52L2_ENST00000369927.4_Intron|TPD52L2_ENST00000351424.4_Silent_p.V27V|TPD52L2_ENST00000358548.4_Silent_p.V27V|TPD52L2_ENST00000346249.4_Silent_p.V27V	NM_199360.2	NP_955392.1	O43399	TPD54_HUMAN	tumor protein D52-like 2	27					regulation of cell proliferation	perinuclear region of cytoplasm	protein binding|protein homodimerization activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(38;1.3e-12)|all_epithelial(29;2.23e-14)|Lung NSC(23;5.92e-10)|all_lung(23;2.08e-09)					ATGTTCCTGTCGACACAGGTG	0.532													T	62500710	C	T	62500710	2	4	718	1	0	0	0	0	0	0	0	1	16500	871	31	1		1	TPD52L2	20	62500710	Silent	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	41007952	62500710	524810	47	55079											
TPTE	7179	broad.mit.edu	37	chr21	10921985	10921985	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaggcacaaaccatagtTcctgttctatctagaaaaga	16	9	8	8	0	2	2	0	0	2	2	3	3	3	3	2	2	1	3	2	2	7	5			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:10921985T>C	ENST00000298232.7	-	17	1351	c.984A>G	c.(982-984)ggA>ggG	p.G328G	TPTE_ENST00000342420.5_Silent_p.G308G|TPTE_ENST00000361285.4_Silent_p.G346G|TPTE_ENST00000415664.2_5'UTR	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	346	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAACCATAGTTCCTGTTCTAT	0.328													C	10921985	T	C	10921985	2	2	718	1	0	0	0	0	0	0	0	1	16531	1770	62	3		3	TPTE	21	10921985	Silent	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08		10921985	37207910	48	55080											
ADAMTS5	11096	broad.mit.edu	37	chr21	28296628	28296628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaacaaaaaagctataaCggacatctaatggtttagtg	16	10	10	5	1	1	0	0	0	1	0	1	2	1	2	0	3	3	2	0	3	8	5			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr21:28296628C>T	ENST00000284987.5	-	8	2658	c.2537G>A	c.(2536-2538)cGt>cAt	p.R846H	AP001601.2_ENST00000426771.1_RNA	NM_007038.3	NP_008969.2	Q9UNA0	ATS5_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 5	846	Spacer.				proteolysis	proteinaceous extracellular matrix	integrin binding|metalloendopeptidase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(34)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	72						AAAGCTATAACGGACATCTAA	0.468													T	28296628	C	T	28296628	3	4	718	1	0	0	0	0	1	0	0	0	269	536	19	1	259	1	ADAMTS5	21	28296628	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	17374643	28296628	19833267	49	55081											
NOL12	79159	broad.mit.edu	37	chr22	38084873	38084873	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaggaggcagatgagctGgaccggttggtgacagcaaa	13	5	16	7	1	0	4	0	2	0	2	0	6	0	6	1	5	2	4	1	5	1	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:38084873G>C	ENST00000359114.4	+	4	325	c.255G>C	c.(253-255)ctG>ctC	p.L85L	NOL12_ENST00000493862.1_3'UTR	NM_024313.2	NP_077289.1	Q9UGY1	NOL12_HUMAN	nucleolar protein 12	85						nucleolus	rRNA binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)	8	Melanoma(58;0.0574)					CAGATGAGCTGGACCGGTTGG	0.637													C	38084873	G	C	38084873	2	2	718	1	0	0	0	0	0	0	0	1	10598	1335	47	4		4	NOL12	22	38084873	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		38084873	13219693	50	55082											
ALG12	79087	broad.mit.edu	37	chr22	50297602	50297602	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccacgacgctggccaGgacccggtgtgtgtccctgt	4	8	14	15	3	0	0	0	0	0	0	2	2	2	1	5	4	0	1	5	4	0	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chr22:50297602G>T	ENST00000330817.6	-	10	1624	c.1351C>A	c.(1351-1353)Ctg>Atg	p.L451M	CITF22-1A6.3_ENST00000610245.1_lincRNA	NM_024105.3	NP_077010.1	Q9BV10	ALG12_HUMAN	ALG12, alpha-1,6-mannosyltransferase						dolichol-linked oligosaccharide biosynthetic process|GPI anchor biosynthetic process|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	integral to membrane|intrinsic to endoplasmic reticulum membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(3)	12		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		BRCA - Breast invasive adenocarcinoma(115;0.199)|LUAD - Lung adenocarcinoma(64;0.247)		ACGCTGGCCAGGACCCGGTGT	0.637													T	50297602	G	T	50297602	3	4	718	1	0	0	0	0	1	0	0	0	514	991	35	4	119	4	ALG12	22	50297602	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	12212729	50297602	1006964	51	55083											
ERAS	3266	broad.mit.edu	37	chrX	48687675	48687675	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtacaaggctgtggtggtgGgcgccagtggcgtgggcaag	7	7	20	7	2	0	0	0	0	0	0	0	0	0	0	1	6	1	3	1	6	3	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48687675G>A	ENST00000338270.1	+	1	393	c.142G>A	c.(142-144)Ggc>Agc	p.G48S		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	48					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						TGTGGTGGTGGGCGCCAGTGG	0.642													A	48687675	G	A	48687675	3	1	718	1	0	0	0	0	1	0	0	0	5246	1232	43	2	144	2	ERAS	23	48687675	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08		48687675	106582885	52	55084											
PIM2	11040	broad.mit.edu	37	chrX	48772458	48772458	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggatggctgccactacttggCcaaagaagcagcggcttggg	9	7	15	10	1	0	1	0	0	0	1	0	2	0	2	2	5	4	3	2	5	3	3			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772458C>G	ENST00000376509.4	-	4	623	c.434G>C	c.(433-435)gGc>gCc	p.G145A		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	145	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						CACTACTTGGCCAAAGAAGCA	0.572													G	48772458	C	G	48772458	3	3	718	1	0	0	0	0	1	0	0	0	12005	739	26	4	513	4	PIM2	23	48772458	Missense_Mutation	SNP	C	TCGA-S9-A6WQ-01A-12D-A34A-08	84783	48772458	106498102	53	55085											
PIM2	11040	broad.mit.edu	37	chrX	48772535	48772535	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagagatcctgggcgggcaaAggccgctcgaggaccagcat	11	4	15	11	3	0	1	0	0	0	1	2	4	1	2	3	4	1	3	3	4	2	0			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:48772535A>T	ENST00000376509.4	-	4	546	c.357T>A	c.(355-357)ccT>ccA	p.P119P		NM_006875.3	NP_006866.2	Q9P1W9	PIM2_HUMAN	pim-2 oncogene	119	Protein kinase.				anti-apoptosis|cell proliferation|male meiosis|positive regulation of autophagy|positive regulation of I-kappaB kinase/NF-kappaB cascade|response to virus		ATP binding|protein serine/threonine kinase activity			lung(3)|stomach(1)	4						GGGCGGGCAAAGGCCGCTCGA	0.597													T	48772535	A	T	48772535	2	4	718	1	0	0	0	0	0	0	0	1	12005	59	3	5		5	PIM2	23	48772535	Silent	SNP	A	TCGA-S9-A6WQ-01A-12D-A34A-08	77	48772535	106498025	54	55086											
NONO	4841	broad.mit.edu	37	chrX	70514290	70514290	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatgatcgaggaaggcccTcaggaaaaggcattgttgag	12	8	15	6	1	1	2	1	2	0	0	2	6	1	5	1	5	0	2	1	5	3	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:70514290T>C	ENST00000535149.1	+	3	938	c.295T>C	c.(295-297)Tca>Cca	p.S99P	NONO_ENST00000490044.1_3'UTR|NONO_ENST00000373856.3_Missense_Mutation_p.S188P|NONO_ENST00000373841.1_Missense_Mutation_p.S188P|NONO_ENST00000276079.8_Missense_Mutation_p.S188P	NM_001145410.1	NP_001138882.1	Q15233	NONO_HUMAN	non-POU domain containing, octamer-binding	188	DBHS.|RRM 1.				DNA recombination|DNA repair|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nuclear matrix|paraspeckles	DNA binding|identical protein binding|nucleotide binding|RNA binding		NONO/TFE3(2)	endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	19	Renal(35;0.156)					AGGAAGGCCCTCAGGAAAAGG	0.522			T	TFE3	papillary renal cancer								C	70514290	T	C	70514290	3	2	718	1	0	0	0	0	1	0	0	0	10610	1551	54	3	572	3	NONO	23	70514290	Missense_Mutation	SNP	T	TCGA-S9-A6WQ-01A-12D-A34A-08	21741755	70514290	84756270	55	55087											
CDX4	1046	broad.mit.edu	37	chrX	72667524	72667524	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggacgcaggcgccgccaaGgccagttcccccagcaggag	9	2	14	16	4	0	0	0	0	0	0	1	2	1	2	5	4	1	3	5	4	1	1			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:72667524G>A	ENST00000373514.2	+	1	435	c.435G>A	c.(433-435)aaG>aaA	p.K145K		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	145						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					GCGCCGCCAAGGCCAGTTCCC	0.637													A	72667524	G	A	72667524	2	1	718	1	0	0	0	0	0	0	0	1	3214	991	35	2		2	CDX4	23	72667524	Silent	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	2153234	72667524	82603036	56	55088											
ATRX	546	broad.mit.edu	37	chrX	76909650	76909659	+	Frame_Shift_Del	DEL	AGCTCCGCTG	AGCTCCGCTG	-																															ccttttctttttctgtttatAgctccgctgattttcttcca																										TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:76909650_76909659delAGCTCCGCTG	ENST00000373344.5	-	14	4460_4469	c.4246_4255delCAGCGGAGCT	c.(4246-4257)cagcggagctatfs	p.QRSY1416fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.QRSY1378fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1416					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.R1417L(2)|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)	TTCTGTTTATAGCTCCGCTGATTTTCTTCC	0.314			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76909659	AGCTCCGCTG	-	76909650	7	5	718	1	0	1	0	1	0	0	0	0	1213	420	15	0	3311	0	ATRX	23	76909650	Frame_Shift_Del	DEL	AGCTCCGCTG	TCGA-S9-A6WQ-01A-12D-A34A-08	4242126	76909650	78360910	57	55089											
COX7B	1349	broad.mit.edu	37	chrX	77160727	77160727	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaacctgtcccctgttggcaGagttaccccaaaggaatgga	11	8	11	11	0	0	1	0	0	0	1	1	4	1	3	5	3	2	3	5	3	4	2			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:77160727G>C	ENST00000481445.1	+	3	328	c.212G>C	c.(211-213)aGa>aCa	p.R71T		NM_001866.2	NP_001857.1	P24311	COX7B_HUMAN	cytochrome c oxidase subunit VIIb	71					respiratory electron transport chain	integral to membrane|mitochondrial respiratory chain	cytochrome-c oxidase activity			endometrium(2)	2						CCTGTTGGCAGAGTTACCCCA	0.398													C	77160727	G	C	77160727	3	2	718	1	0	0	0	0	1	0	0	0	3813	942	33	4	222	4	COX7B	23	77160727	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	251077	77160727	78109833	58	55090											
PASD1	139135	broad.mit.edu	37	chrX	150790022	150790022	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atggtgatagttctgcttacGaaaacgtgaaatttattgtg	12	15	10	4	2	1	2	0	2	1	0	1	3	1	2	0	1	3	2	0	1	6	6			TCGA-S9-A6WQ-01A-12D-A34A-08	TCGA-S9-A6WQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	793a2b14-18e7-4283-9c06-0119aa484ea8	95df5b40-cef6-4d01-a82b-12a206dc5eca	g.chrX:150790022G>A	ENST00000370357.4	+	6	621	c.376G>A	c.(376-378)Gaa>Aaa	p.E126K		NM_173493.2	NP_775764.2	Q8IV76	PASD1_HUMAN	PAS domain containing 1	126						nucleus	signal transducer activity			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(3)|liver(1)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48	Acute lymphoblastic leukemia(192;6.56e-05)					TTCTGCTTACGAAAACGTGAA	0.303													A	150790022	G	A	150790022	3	1	718	1	0	0	0	0	1	0	0	0	11547	1059	37	1	394	1	PASD1	23	150790022	Missense_Mutation	SNP	G	TCGA-S9-A6WQ-01A-12D-A34A-08	73629295	150790022	4480538	59	55091											
C1orf158	93190	broad.mit.edu	37	chr1	12815698	12815698	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatccatttacagaaaagaaTacatccccttcccagaccac	16	8	3	14	0	0	3	0	0	0	3	3	3	3	3	5	0	2	0	5	0	6	4			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:12815698T>C	ENST00000288048.5	+	2	376	c.160T>C	c.(160-162)Tac>Cac	p.Y54H	C1orf158_ENST00000376210.3_Intron	NM_152290.2	NP_689503.2	Q8N1D5	CA158_HUMAN	chromosome 1 open reading frame 158	54										central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(1)|ovary(1)|skin(2)|urinary_tract(3)	10	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.06e-06)|COAD - Colon adenocarcinoma(227;0.000273)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00575)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0649)		CAGAAAAGAATACATCCCCTT	0.483													C	12815698	T	C	12815698	3	2	719	1	0	0	0	0	1	0	0	0	2027	1406	49	3	166	3	C1orf158	1	12815698	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		12815698	236434923	1	55092											
HSPG2	3339	broad.mit.edu	37	chr1	22163414	22163414	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aactcaacgctggccccaatGctcttggtctctagctgagg	8	10	10	13	1	3	1	1	1	2	0	4	1	3	1	2	3	4	3	2	3	4	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr1:22163414G>T	ENST00000374695.3	-	75	10315	c.10236C>A	c.(10234-10236)agC>agA	p.S3412R		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3412	Ig-like C2-type 20.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	TGGCCCCAATGCTCTTGGTCT	0.662													T	22163414	G	T	22163414	3	4	719	1	0	0	0	0	1	0	0	0	7488	1310	46	4	3031	4	HSPG2	1	22163414	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	9347716	22163414	227087207	2	55093											
ROCK2	9475	broad.mit.edu	37	chr2	11427813	11427813	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aattatctatgttcttgtttTtcctcaaagcaggaaaatct	12	17	5	7	0	4	0	1	0	3	0	5	1	5	1	1	1	1	3	1	1	6	6			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:11427813T>C	ENST00000315872.6	-	2	639	c.191A>G	c.(190-192)aAa>aGa	p.K64R	ROCK2_ENST00000462366.1_5'UTR	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	64					axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GTTCTTGTTTTTCCTCAAAGC	0.274													C	11427813	T	C	11427813	3	2	719	1	0	0	0	0	1	0	0	0	13609	1841	64	3	4103	3	ROCK2	2	11427813	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		11427813	231771560	3	55094											
PREB	10113	broad.mit.edu	37	chr2	27356048	27356048	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtattatcgtggttgaaGcacacaactttctgcagtgg	10	12	12	7	1	1	1	0	1	1	0	2	1	1	1	0	3	3	4	0	3	4	4			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:27356048G>A	ENST00000260643.2	-	3	736	c.483C>T	c.(481-483)tgC>tgT	p.C161C	PREB_ENST00000416802.1_5'UTR|PREB_ENST00000406567.3_Silent_p.C161C	NM_013388.4	NP_037520.1	Q9HCU5	PREB_HUMAN	prolactin regulatory element binding	161					COPII vesicle coating|post-translational protein modification|protein N-linked glycosylation via asparagine|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	endoplasmic reticulum membrane|integral to membrane|nucleus	DNA binding|guanyl-nucleotide exchange factor activity|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)	14	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CGTGGTTGAAGCACACAACTT	0.542													A	27356048	G	A	27356048	2	1	719	1	0	0	0	0	0	0	0	1	12556	963	34	2		2	PREB	2	27356048	Silent	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	15928235	27356048	215843325	4	55095											
WDR12	55759	broad.mit.edu	37	chr2	203772675	203772675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgagaagggaacatcatctaCggcatatctataaaaaggaa	18	8	9	6	1	3	1	1	1	2	1	3	4	3	3	0	3	2	1	0	3	9	4			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr2:203772675C>T	ENST00000261015.4	-	2	798	c.49G>A	c.(49-51)Gta>Ata	p.V17I	WDR12_ENST00000477723.1_5'UTR	NM_018256.3	NP_060726.3	Q9GZL7	WDR12_HUMAN	WD repeat domain 12						cell proliferation|maturation of 5.8S rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)|maturation of LSU-rRNA from tricistronic rRNA transcript (SSU-rRNA, 5.8S rRNA, LSU-rRNA)	nucleoplasm|PeBoW complex|preribosome, large subunit precursor	protein binding			endometrium(3)|large_intestine(1)|liver(1)|lung(6)|prostate(1)|skin(1)	13						ACATCATCTACGGCATATCTA	0.338													T	203772675	C	T	203772675	3	4	719	1	0	0	0	0	1	0	0	0	17376	536	19	1	1270	1	WDR12	2	203772675	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08	176416627	203772675	39426698	5	55096											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	719	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08	5340437	209113112	34086261	6	55097											
SLMAP	7871	broad.mit.edu	37	chr3	57847745	57847745	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgaaaggactcaggaagaaTtaagagaattagccaacaaa	21	6	9	5	0	1	3	1	1	0	2	1	6	1	5	1	2	2	0	1	2	8	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr3:57847745T>C	ENST00000383718.3	+	9	996	c.898T>C	c.(898-900)Tta>Cta	p.L300L	SLMAP_ENST00000449503.2_Silent_p.L300L|SLMAP_ENST00000295951.3_Silent_p.L300L|SLMAP_ENST00000416870.1_5'UTR|SLMAP_ENST00000295952.3_Silent_p.L300L|SLMAP_ENST00000428312.1_Silent_p.L300L			Q14BN4	SLMAP_HUMAN	sarcolemma associated protein	300					muscle contraction|protein folding	integral to plasma membrane|microtubule organizing center|prefoldin complex|sarcolemma|smooth endoplasmic reticulum	unfolded protein binding			endometrium(5)|kidney(1)|large_intestine(3)|lung(7)|urinary_tract(2)	18				BRCA - Breast invasive adenocarcinoma(55;0.000271)|KIRC - Kidney renal clear cell carcinoma(284;0.0602)|Kidney(284;0.0754)|OV - Ovarian serous cystadenocarcinoma(275;0.182)		TCAGGAAGAATTAAGAGAATT	0.313													C	57847745	T	C	57847745	2	2	719	1	0	0	0	0	0	0	0	1	14843	1490	52	3		3	SLMAP	3	57847745	Silent	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		57847745	140174685	7	55098											
QRFPR	84109	broad.mit.edu	37	chr4	122250653	122250653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaaactttgctttcttcCgcatcattgtaattcctgaa	10	15	7	9	1	2	1	1	1	1	0	4	2	4	2	2	1	2	3	2	1	4	6			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr4:122250653C>T	ENST00000394427.2	-	6	1523	c.1112G>A	c.(1111-1113)cGg>cAg	p.R371Q	QRFPR_ENST00000334383.5_3'UTR	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	371						plasma membrane	neuropeptide Y receptor activity			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						TGCTTTCTTCCGCATCATTGT	0.378													T	122250653	C	T	122250653	3	4	719	1	0	0	0	0	1	0	0	0	12966	652	23	1	187	1	QRFPR	4	122250653	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		122250653	68903623	8	55099											
CPNE5	57699	broad.mit.edu	37	chr6	36711479	36711479	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcacctggacgatgtcgCgttcagccagcttcccccgg	5	9	11	16	4	2	0	2	0	0	0	4	2	3	1	4	2	2	3	4	2	0	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:36711479C>T	ENST00000244751.2	-	20	2174	c.1550G>A	c.(1549-1551)cGc>cAc	p.R517H	CPNE5_ENST00000393189.2_Missense_Mutation_p.R225H|CPNE5_ENST00000459703.1_5'UTR	NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	517	VWFA.									central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						GACGATGTCGCGTTCAGCCAG	0.642													T	36711479	C	T	36711479	3	4	719	1	0	0	0	0	1	0	0	0	3846	768	27	1	239	1	CPNE5	6	36711479	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		36711479	134403588	9	55100											
DCBLD1	285761	broad.mit.edu	37	chr6	117859903	117859903	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccaagcccgacttcaggAccaaggcccatcatgggctt	9	7	11	14	1	2	0	2	0	0	0	2	2	2	1	4	4	1	1	4	4	2	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr6:117859903A>G	ENST00000338728.5	+	8	1001	c.881A>G	c.(880-882)gAc>gGc	p.D294G	DCBLD1_ENST00000368503.4_Intron|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000296955.8_Missense_Mutation_p.D294G			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	294	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		CGACTTCAGGACCAAGGCCCA	0.527													G	117859903	A	G	117859903	3	3	719	1	0	0	0	0	1	0	0	0	4314	275	10	3	911	3	DCBLD1	6	117859903	Missense_Mutation	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	81148424	117859903	53255164	10	55101											
SCRN1	9805	broad.mit.edu	37	chr7	29994961	29994961	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtccttggaacttggtcgaTtgaaatgtaagtgcactgaa	11	12	12	6	1	0	2	0	2	0	0	2	4	1	3	1	3	2	2	1	3	4	4			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:29994961T>C	ENST00000426154.1	-	3	351	c.175A>G	c.(175-177)Atc>Gtc	p.I59V	SCRN1_ENST00000242059.5_Missense_Mutation_p.I59V|SCRN1_ENST00000425819.2_5'UTR|SCRN1_ENST00000434476.2_Missense_Mutation_p.I79V|SCRN1_ENST00000494620.1_5'UTR|SCRN1_ENST00000409570.1_Missense_Mutation_p.I59V|SCRN1_ENST00000409497.1_Missense_Mutation_p.I59V	NM_001145513.1	NP_001138985.1	Q12765	SCRN1_HUMAN	secernin 1	59					exocytosis|proteolysis	cytoplasm|nuclear membrane	dipeptidase activity			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(2)|prostate(2)|skin(2)	25						ACTTGGTCGATTGAAATGTAA	0.473													C	29994961	T	C	29994961	3	2	719	1	0	0	0	0	1	0	0	0	14031	1493	52	3	1093	3	SCRN1	7	29994961	Missense_Mutation	SNP	T	TCGA-S9-A7IQ-01A-21D-A34A-08		29994961	129143702	11	55102											
PILRB	29990	broad.mit.edu	37	chr7	99956381	99956381	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaacacctctcagcctccAtgggtggctctgtggaaatc	10	9	9	13	0	2	0	1	0	2	0	5	1	3	1	3	3	2	1	3	3	3	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:99956381A>G	ENST00000610247.1	+	16	2629	c.133A>G	c.(133-135)Atg>Gtg	p.M45V	PILRB_ENST00000444073.1_Missense_Mutation_p.M45V|PILRB_ENST00000452089.1_Missense_Mutation_p.M45V|PILRB_ENST00000609309.1_Missense_Mutation_p.M45V|STAG3L5P-PVRIG2P-PILRB_ENST00000310771.4_RNA|PILRB_ENST00000448382.1_Intron			Q9UKJ0	PILRB_HUMAN	paired immunoglobin-like type 2 receptor beta		Ig-like V-type.				activation of transmembrane receptor protein tyrosine kinase activity	integral to plasma membrane	protein binding|receptor activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					CTCAGCCTCCATGGGTGGCTC	0.552													G	99956381	A	G	99956381	3	3	719	1	0	0	0	0	1	0	0	0	12003	217	8	3	139	3	PILRB	7	99956381	Missense_Mutation	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	69961420	99956381	59182282	12	55103											
FOXP2	93986	broad.mit.edu	37	chr7	114269973	114269973	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagcaacaacagcagcagcaAcaacaacaacaacagcagca	21	0	6	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	6	0	0	7	0	rs149757187		TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr7:114269973A>G	ENST00000393500.3	+	11	1105	c.285A>G	c.(283-285)caA>caG	p.Q95Q	FOXP2_ENST00000393489.3_Silent_p.Q78Q|FOXP2_ENST00000378237.3_Silent_p.Q170Q|AC020606.1_ENST00000580664.1_RNA|FOXP2_ENST00000390668.3_Silent_p.Q194Q|FOXP2_ENST00000350908.4_Silent_p.Q170Q|FOXP2_ENST00000393498.2_Silent_p.Q150Q|FOXP2_ENST00000393491.3_Silent_p.Q78Q|FOXP2_ENST00000393494.2_Silent_p.Q170Q|FOXP2_ENST00000408937.3_Silent_p.Q195Q|FOXP2_ENST00000403559.4_Silent_p.Q187Q|FOXP2_ENST00000360232.4_Silent_p.Q170Q			O15409	FOXP2_HUMAN	forkhead box P2	170	Gln-rich.				camera-type eye development|caudate nucleus development|cerebellum development|cerebral cortex development|embryo development|growth|lung alveolus development|negative regulation of transcription, DNA-dependent|pattern specification process|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of mesenchymal cell proliferation|post-embryonic development|putamen development|regulation of sequence-specific DNA binding transcription factor activity|righting reflex|skeletal muscle tissue development|smooth muscle tissue development|vocal learning	cytoplasm|transcription factor complex	chromatin binding|DNA bending activity|double-stranded DNA binding|promoter binding|protein heterodimerization activity|protein homodimerization activity|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|zinc ion binding	p.Q195Q(1)		breast(3)|endometrium(7)|kidney(4)|large_intestine(7)|lung(22)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	52						agcagcagcaacaacaacaac	0.502													G	114269973	A	G	114269973	2	3	719	1	0	0	0	0	0	0	0	1	6078	40	2	3		3	FOXP2	7	114269973	Silent	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08	14313592	114269973	44868690	13	55104											
PUF60	22827	broad.mit.edu	37	chr8	144898893	144898893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagatgatgacgcggttcaCggccccgaacttgccacact	9	8	11	13	4	1	3	1	2	0	1	1	4	1	3	3	2	2	2	3	2	2	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr8:144898893C>T	ENST00000526683.1	-	12	2032	c.1477G>A	c.(1477-1479)Gtg>Atg	p.V493M	PUF60_ENST00000456095.2_Missense_Mutation_p.V464M|PUF60_ENST00000453551.2_Missense_Mutation_p.V450M|PUF60_ENST00000527197.1_Missense_Mutation_p.V447M|PUF60_ENST00000349157.6_Missense_Mutation_p.V476M|PUF60_ENST00000313352.7_Missense_Mutation_p.V433M	NM_001271098.1|NM_078480.2	NP_001258027.1|NP_510965.1	Q9UHX1	PUF60_HUMAN	poly-U binding splicing factor 60KDa	493	Inhibits homodimerization.|Inhibits transcriptional repression, interaction with ERCC3 and apoptosis induction.|RRM 3; atypical.				apoptosis|mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|transcription, DNA-dependent	nucleus|ribonucleoprotein complex	DNA binding|nucleotide binding|protein binding|RNA binding	p.V493M(1)		NS(1)|endometrium(1)|kidney(3)|lung(7)|prostate(2)	14	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;6.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			ACGCGGTTCACGGCCCCGAAC	0.517													T	144898893	C	T	144898893	3	4	719	1	0	0	0	0	1	0	0	0	12912	536	19	1	206	1	PUF60	8	144898893	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		144898893	1465129	14	55105											
AGTPBP1	23287	broad.mit.edu	37	chr9	88201794	88201794	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattgcaacagccccttagcAtggtaaattgtaggatgtaa	13	12	9	7	0	0	0	0	0	0	0	0	1	0	1	2	2	4	5	2	2	7	7			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:88201794A>G	ENST00000357081.3	-	22	3129	c.2985T>C	c.(2983-2985)caT>caC	p.H995H	AGTPBP1_ENST00000376109.3_Silent_p.H1007H|AGTPBP1_ENST00000376083.3_Silent_p.H955H|AGTPBP1_ENST00000432218.1_Intron|AGTPBP1_ENST00000337006.4_3'UTR			Q9UPW5	CBPC1_HUMAN	ATP/GTP binding protein 1	995					C-terminal protein deglutamylation|cerebellar Purkinje cell differentiation|eye photoreceptor cell differentiation|mitochondrion organization|neuromuscular process|olfactory bulb development|protein side chain deglutamylation|proteolysis	cytosol|mitochondrion|nucleus	metallocarboxypeptidase activity|tubulin binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(12)|ovary(5)|skin(2)|urinary_tract(3)	44						GCCCCTTAGCATGGTAAATTG	0.393													G	88201794	A	G	88201794	2	3	719	1	0	0	0	0	0	0	0	1	400	214	8	3		3	AGTPBP1	9	88201794	Silent	SNP	A	TCGA-S9-A7IQ-01A-21D-A34A-08		88201794	53011637	15	55106											
KIAA1958	158405	broad.mit.edu	37	chr9	115421658	115421658	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tattcgccgaggcctggaccGcatcctgaagaatgcaggtg	9	8	13	11	3	0	2	0	1	0	1	2	4	1	3	4	3	1	2	4	3	3	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr9:115421658G>A	ENST00000337530.6	+	4	1756	c.1460G>A	c.(1459-1461)cGc>cAc	p.R487H	KIAA1958_ENST00000536272.1_Missense_Mutation_p.R515H	NM_133465.2	NP_597722.1	Q8N8K9	K1958_HUMAN	KIAA1958	487								p.R487H(1)		endometrium(1)|large_intestine(9)|lung(10)|prostate(2)|skin(3)	25						GGCCTGGACCGCATCCTGAAG	0.557													A	115421658	G	A	115421658	3	1	719	1	0	0	0	0	1	0	0	0	8322	1087	38	1	1470	1	KIAA1958	9	115421658	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	27219864	115421658	25791773	16	55107											
LRRC43	254050	broad.mit.edu	37	chr12	122674761	122674761	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agcctgaggaccctccggcaCctgcgactcctggtgctgca	6	7	12	16	2	0	1	0	1	0	0	2	3	2	2	5	3	4	3	5	3	0	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr12:122674761C>T	ENST00000339777.4	+	5	775	c.747C>T	c.(745-747)caC>caT	p.H249H	LRRC43_ENST00000425921.1_Silent_p.H64H	NM_152759.4	NP_689972.3	Q8N309	LRC43_HUMAN	leucine rich repeat containing 43	249										NS(1)|endometrium(1)|large_intestine(4)|lung(10)|skin(1)|upper_aerodigestive_tract(2)	19	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000312)|Epithelial(86;0.000539)|BRCA - Breast invasive adenocarcinoma(302;0.225)		CCCTCCGGCACCTGCGACTCC	0.652													T	122674761	C	T	122674761	2	4	719	1	0	0	0	0	0	0	0	1	9071	506	18	2		2	LRRC43	12	122674761	Silent	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		122674761	11177134	17	55108											
GPR132	29933	broad.mit.edu	37	chr14	105518118	105518118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgttgcagaagaagatgtagGcggtcaccttgcaggccagc	10	8	14	9	1	1	3	1	0	0	3	1	3	1	3	2	3	3	4	2	3	3	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr14:105518118G>A	ENST00000329797.3	-	4	1267	c.356C>T	c.(355-357)gCc>gTc	p.A119V	GPR132_ENST00000539291.2_Missense_Mutation_p.A119V|GPR132_ENST00000546679.1_5'UTR|GPR132_ENST00000392585.2_Missense_Mutation_p.A110V	NM_001278694.1|NM_001278696.1|NM_013345.2	NP_001265623.1|NP_001265625.1|NP_037477.1	Q9UNW8	GP132_HUMAN	G protein-coupled receptor 132	119					response to stress	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	18		all_cancers(154;0.0953)|Melanoma(154;0.155)|all_epithelial(191;0.219)	OV - Ovarian serous cystadenocarcinoma(23;0.00778)|all cancers(16;0.00936)|Epithelial(46;0.0227)	Epithelial(152;0.02)|all cancers(159;0.0419)|OV - Ovarian serous cystadenocarcinoma(161;0.0521)		GAAGATGTAGGCGGTCACCTT	0.612													A	105518118	G	A	105518118	3	1	719	1	0	0	0	0	1	0	0	0	6696	1203	42	2	790	2	GPR132	14	105518118	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		105518118	1831422	18	55109											
SPTBN5	51332	broad.mit.edu	37	chr15	42182318	42182318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgtgggagatctggaaaCgcagaatgatgacccagatg	14	7	14	6	1	1	6	0	2	1	4	1	8	1	7	1	2	1	1	1	2	2	0			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:42182318C>T	ENST00000320955.6	-	4	697	c.470G>A	c.(469-471)cGt>cAt	p.R157H		NM_016642.2	NP_057726.4	Q9NRC6	SPTN5_HUMAN	spectrin, beta, non-erythrocytic 5	157	Actin-binding.|CH 1.				actin cytoskeleton organization|actin filament capping|axon guidance	cytosol|membrane|spectrin				NS(1)|breast(1)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(6)|lung(18)|ovary(5)|prostate(8)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	62		all_cancers(109;1.84e-17)|all_epithelial(112;1.12e-15)|Lung NSC(122;7.6e-10)|all_lung(180;4.15e-09)|Melanoma(134;0.0179)|Ovarian(310;0.143)|Colorectal(260;0.173)		all cancers(2;4.33e-34)|Epithelial(2;1.72e-25)|OV - Ovarian serous cystadenocarcinoma(18;8.32e-20)|GBM - Glioblastoma multiforme(94;4.69e-07)|Colorectal(2;0.00104)|COAD - Colon adenocarcinoma(120;0.0405)|READ - Rectum adenocarcinoma(92;0.0908)		GATCTGGAAACGCAGAATGAT	0.592													T	42182318	C	T	42182318	3	4	719	1	0	0	0	0	1	0	0	0	15218	536	19	1	10814	1	SPTBN5	15	42182318	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		42182318	60349074	19	55110											
NR2F2	7026	broad.mit.edu	37	chr15	96877599	96877599	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccaggtggccctgcttcGcctcacctggagcgagctgt	5	8	14	14	2	1	0	1	0	0	0	2	3	1	2	4	4	3	2	4	4	0	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr15:96877599G>A	ENST00000394166.3	+	2	2126	c.737G>A	c.(736-738)cGc>cAc	p.R246H	NR2F2_ENST00000421109.2_Missense_Mutation_p.R113H|NR2F2_ENST00000453270.2_Missense_Mutation_p.R93H|NR2F2_ENST00000394171.2_Missense_Mutation_p.R93H	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	246	Interaction with ZFPM2 (By similarity).|Ligand-binding (By similarity).				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			GCCCTGCTTCGCCTCACCTGG	0.682													A	96877599	G	A	96877599	3	1	719	1	0	0	0	0	1	0	0	0	10704	1087	38	1	790	1	NR2F2	15	96877599	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	54695281	96877599	5653793	20	55111											
OTOA	146183	broad.mit.edu	37	chr16	21689897	21689897	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttttctgagccatggagtgtCgagttatacagtgccaaatt	10	14	10	7	1	1	1	0	1	1	0	2	3	1	2	2	1	3	1	2	1	3	5			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr16:21689897C>T	ENST00000388958.3	+	1	63	c.62C>T	c.(61-63)tCg>tTg	p.S21L	OTOA_ENST00000286149.4_Missense_Mutation_p.S21L	NM_144672.3	NP_653273.3	Q7RTW8	OTOAN_HUMAN	otoancorin	21					sensory perception of sound	anchored to membrane|apical plasma membrane|proteinaceous extracellular matrix				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		CATGGAGTGTCGAGTTATACA	0.428													T	21689897	C	T	21689897	3	4	719	1	0	0	0	0	1	0	0	0	11378	893	31	1	64	1	OTOA	16	21689897	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		21689897	68664856	21	55112											
ANKFY1	51479	broad.mit.edu	37	chr17	4098228	4098228	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacatgccatttcctggcGcctgcagaccccagcgtcgc	6	10	9	16	3	0	1	0	0	0	1	2	1	1	1	5	1	4	1	5	1	1	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:4098228G>A	ENST00000433651.1	-	10	1454	c.1417C>T	c.(1417-1419)Cgc>Tgc	p.R473C	ANKFY1_ENST00000574367.1_Intron|ANKFY1_ENST00000341657.4_Intron|ANKFY1_ENST00000570535.1_Intron			Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	0						endosome membrane	metal ion binding|protein binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						ATTTCCTGGCGCCTGCAGACC	0.502													A	4098228	G	A	4098228	3	1	719	1	0	0	0	0	1	0	0	0	626	1087	38	1	2251	1	ANKFY1	17	4098228	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		4098228	77096982	22	55113											
CDK12	51755	broad.mit.edu	37	chr17	37618565	37618566	+	Frame_Shift_Ins	INS	-	-	AC																															tgatatcagctctgattccgINSacaccttctccgatgacatg																										TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr17:37618565_37618566insAC	ENST00000447079.4	+	1	274_275	c.241_242insAC	c.(241-243)gacfs	p.D81fs	CDK12_ENST00000430627.2_Frame_Shift_Ins_p.D81fs	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	81					mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CTCTGATTCCGACACCTTCTCC	0.53			"Mis, N, F"		serous ovarian					TCGA Ovarian(9;0.13)			AC	37618566	-	AC	37618565	7	5	719	1	0	1	1	0	0	0	0	0	3158	1058	37	0	243	0	CDK12	17	37618565	Frame_Shift_Ins	INS	-	TCGA-S9-A7IQ-01A-21D-A34A-08	33520337	37618565	43576645	23	55114											
DSG1	1828	broad.mit.edu	37	chr18	28934983	28934983	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagtctgagtatgcaccccGagttagccaatgcccacaat	11	9	9	12	1	1	1	0	1	1	0	1	2	1	1	4	0	3	4	4	0	5	3			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr18:28934983G>A	ENST00000257192.4	+	15	3036	c.2824G>A	c.(2824-2826)Gag>Aag	p.E942K	RP11-534N16.1_ENST00000581452.1_RNA|DSG1_ENST00000462981.2_Missense_Mutation_p.E301K|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001942.2	NP_001933.2	Q02413	DSG1_HUMAN	desmoglein 1	942					calcium-dependent cell-cell adhesion|cell-cell junction assembly|cellular component disassembly involved in apoptosis|homophilic cell adhesion|protein stabilization	cytosol|desmosome|integral to membrane|internal side of plasma membrane	calcium ion binding|gamma-catenin binding|toxin binding			NS(2)|central_nervous_system(2)|endometrium(5)|kidney(7)|large_intestine(11)|lung(36)|ovary(3)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	76			OV - Ovarian serous cystadenocarcinoma(10;0.00559)			TATGCACCCCGAGTTAGCCAA	0.488													A	28934983	G	A	28934983	3	1	719	1	0	0	0	0	1	0	0	0	4815	1059	37	1	2882	1	DSG1	18	28934983	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08		28934983	49142265	24	55115											
FBN3	84467	broad.mit.edu	37	chr19	8160343	8160343	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgtgttgaggcaatggcCaaatcggcacacctgcccca	10	7	11	13	1	0	1	0	1	0	0	1	1	0	1	4	3	2	4	4	3	2	1			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:8160343C>T	ENST00000600128.1	-	46	6115	c.5701G>A	c.(5701-5703)Ggc>Agc	p.G1901S	FBN3_ENST00000601739.1_Missense_Mutation_p.G1901S|FBN3_ENST00000270509.2_Missense_Mutation_p.G1901S			Q75N90	FBN3_HUMAN	fibrillin 3	1901	EGF-like 30; 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						AGGCAATGGCCAAATCGGCAC	0.542													T	8160343	C	T	8160343	3	4	719	1	0	0	0	0	1	0	0	0	5753	594	21	2	2804	2	FBN3	19	8160343	Missense_Mutation	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		8160343	50968640	25	55116											
CKM	1158	broad.mit.edu	37	chr19	45810787	45810787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggtgcttgctcaggtgcGccagcttcacatgcacgcct	5	10	13	13	2	2	0	2	0	0	0	2	0	2	0	2	3	5	4	2	3	0	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chr19:45810787G>A	ENST00000221476.3	-	7	1073	c.899C>T	c.(898-900)gCg>gTg	p.A300V		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	300	Phosphagen kinase C-terminal.				creatine metabolic process	cytosol	ATP binding|creatine kinase activity			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	GCTCAGGTGCGCCAGCTTCAC	0.637													A	45810787	G	A	45810787	3	1	719	1	0	0	0	0	1	0	0	0	3479	1087	38	1	254	1	CKM	19	45810787	Missense_Mutation	SNP	G	TCGA-S9-A7IQ-01A-21D-A34A-08	37650444	45810787	13318196	26	55117											
PDHA1	5160	broad.mit.edu	37	chrX	19377663	19377663	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgcccagtttgccacggcCgatcctgagccacctttgga	6	9	11	15	2	0	1	0	1	0	0	1	3	1	2	6	2	3	2	6	2	0	2			TCGA-S9-A7IQ-01A-21D-A34A-08	TCGA-S9-A7IQ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4be007b7-c756-41c7-8f69-bb6f887ba80a	faa5afb2-862d-41bc-8c6f-3e7de955d1a7	g.chrX:19377663C>T	ENST00000379806.5	+	12	1324	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	PDHA1_ENST00000379804.1_Silent_p.A74A|PDHA1_ENST00000422285.2_Silent_p.A355A|PDHA1_ENST00000540249.1_Silent_p.A324A|PDHA1_ENST00000545074.1_Silent_p.A362A|PDHA1_ENST00000478795.1_3'UTR	NM_001173454.1	NP_001166925.1	P08559	ODPA_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 1	355					glycolysis|pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix	protein binding|pyruvate dehydrogenase (acetyl-transferring) activity			endometrium(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)	18	Hepatocellular(33;0.183)				NADH(DB00157)	TTGCCACGGCCGATCCTGAGC	0.468													T	19377663	C	T	19377663	2	4	719	1	0	0	0	0	0	0	0	1	11740	639	23	1		1	PDHA1	23	19377663	Silent	SNP	C	TCGA-S9-A7IQ-01A-21D-A34A-08		19377663	135892897	27	55118											
MACF1	23499	broad.mit.edu	37	chr1	39950322	39950322	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccaacaccaacttttcAttctagtcggacatcccttg	11	11	5	14	2	2	0	1	0	1	0	4	2	3	1	3	1	2	0	3	1	3	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:39950322A>C	ENST00000564288.1	+	100	23108	c.22331A>C	c.(22330-22332)cAt>cCt	p.H7444P	MACF1_ENST00000567887.1_Missense_Mutation_p.H7481P|MACF1_ENST00000372915.3_Missense_Mutation_p.H7277P|MACF1_ENST00000539005.1_Missense_Mutation_p.H5189P|MACF1_ENST00000545844.1_Missense_Mutation_p.H5319P|MACF1_ENST00000361689.2_Missense_Mutation_p.H5319P|MACF1_ENST00000289893.4_Missense_Mutation_p.H5827P|MACF1_ENST00000317713.7_Missense_Mutation_p.H5319P			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	7277					cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			CCAACTTTTCATTCTAGTCGG	0.438													C	39950322	A	C	39950322	3	2	720	1	0	0	0	0	1	0	0	0	9215	217	8	5	22499	5	MACF1	1	39950322	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		39950322	209300299	1	55119											
IL12RB2	3595	broad.mit.edu	37	chr1	67792514	67792514	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggacgagacacccacttatAcactgagtatactctacagt	14	9	7	11	1	1	2	0	1	1	1	1	4	1	3	1	1	3	1	1	1	5	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:67792514A>G	ENST00000262345.1	+	4	1101	c.461A>G	c.(460-462)tAc>tGc	p.Y154C	IL12RB2_ENST00000371000.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000544434.1_Missense_Mutation_p.Y154C|IL12RB2_ENST00000541374.1_Missense_Mutation_p.Y154C	NM_001559.2	NP_001550.1	Q99665	I12R2_HUMAN	interleukin 12 receptor, beta 2	154	Fibronectin type-III 1.				positive regulation of cell proliferation|positive regulation of interferon-gamma production	integral to plasma membrane	cytokine receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(8)|lung(21)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	45						ACCCACTTATACACTGAGTAT	0.408													G	67792514	A	G	67792514	3	3	720	1	0	0	0	0	1	0	0	0	7685	391	14	3	471	3	IL12RB2	1	67792514	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	27842192	67792514	181458107	2	55120											
ABCA4	24	broad.mit.edu	37	chr1	94471002	94471002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaaacatttttcaccttttCgatttcttctgctggtacac	9	17	4	11	1	3	0	1	0	2	0	4	1	3	0	1	1	3	2	1	1	3	7			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:94471002C>T	ENST00000370225.3	-	44	6228	c.6142G>A	c.(6142-6144)Gaa>Aaa	p.E2048K	ABCA4_ENST00000535881.1_Missense_Mutation_p.E167K|ABCA4_ENST00000465352.1_5'UTR|ABCA4_ENST00000536513.1_Missense_Mutation_p.E318K	NM_000350.2	NP_000341.2	P78363	ABCA4_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 4	2048	ABC transporter 2.				phototransduction, visible light|visual perception	integral to plasma membrane|membrane fraction	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(2)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(10)|large_intestine(25)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(10)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(2)	147		all_lung(203;0.000757)|Lung NSC(277;0.00335)		all cancers(265;0.00432)|GBM - Glioblastoma multiforme(16;0.00715)|Epithelial(280;0.171)		TTCACCTTTTCGATTTCTTCT	0.448													T	94471002	C	T	94471002	3	4	720	1	0	0	0	0	1	0	0	0	34	893	31	1	707	1	ABCA4	1	94471002	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	26678488	94471002	154779619	3	55121											
MNDA	4332	broad.mit.edu	37	chr1	158815755	158815755	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaactttacaagcaagcaTctggaacaatggtgtatggg	13	10	11	7	0	2	0	1	0	1	0	2	1	2	1	0	3	5	3	0	3	7	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:158815755T>C	ENST00000368141.4	+	5	1210	c.949T>C	c.(949-951)Tct>Cct	p.S317P		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	317	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					CAAGCAAGCATCTGGAACAAT	0.318													C	158815755	T	C	158815755	3	2	720	1	0	0	0	0	1	0	0	0	9752	1435	50	3	963	3	MNDA	1	158815755	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	64344753	158815755	90434866	4	55122											
OR2T4	127074	broad.mit.edu	37	chr1	248525411	248525411	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagggtgtgtctcttcctgTcatcaggctgctggttcctg	4	15	12	10	0	3	0	2	0	1	0	6	0	5	0	2	3	1	3	2	3	1	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr1:248525411T>C	ENST00000366475.1	+	1	529	c.529T>C	c.(529-531)Tca>Cca	p.S177P		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	177					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCTCTTCCTGTCATCAGGCTG	0.532													C	248525411	T	C	248525411	3	2	720	1	0	0	0	0	1	0	0	0	11103	1667	58	3	531	3	OR2T4	1	248525411	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	89709656	248525411	725210	5	55123											
ITGB6	3694	broad.mit.edu	37	chr2	161030526	161030526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattgcatcaaatccaccttCgggtgtgtcaatattagcag	12	12	8	9	1	2	0	2	0	0	0	4	0	3	0	2	1	2	2	2	1	5	4	rs140624114		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:161030526C>T	ENST00000283249.2	-	5	955	c.718G>A	c.(718-720)Gaa>Aaa	p.E240K	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409872.1_Missense_Mutation_p.E240K|ITGB6_ENST00000409967.2_Missense_Mutation_p.E240K|ITGB6_ENST00000428609.2_Missense_Mutation_p.E198K	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	240	VWFA.				cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						AATCCACCTTCGGGTGTGTCA	0.348													T	161030526	C	T	161030526	3	4	720	1	0	0	0	0	1	0	0	0	7957	893	31	1	1692	1	ITGB6	2	161030526	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		161030526	82168847	6	55124											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	720	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	48082586	209113112	34086261	7	55125											
ABCA12	26154	broad.mit.edu	37	chr2	215823032	215823032	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagtttgttacccagtagCatgtcacgccaatgcctgaa	11	11	9	10	1	1	2	1	2	0	0	1	2	1	2	3	0	3	4	3	0	5	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:215823032C>A	ENST00000272895.7	-	41	6305	c.6086G>T	c.(6085-6087)tGc>tTc	p.C2029F	AC072062.1_ENST00000607412.1_RNA|ABCA12_ENST00000389661.4_Missense_Mutation_p.C1711F	NM_173076.2	NP_775099.2	Q86UK0	ABCAC_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 12	2029					cellular homeostasis|lipid transport	integral to membrane	ATP binding|ATPase activity			NS(3)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(45)|lung(44)|ovary(8)|pancreas(2)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	139		Renal(323;0.127)		Epithelial(149;1.01e-05)|all cancers(144;0.00112)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.011)		TACCCAGTAGCATGTCACGCC	0.418													A	215823032	C	A	215823032	3	1	720	1	0	0	0	0	1	0	0	0	30	710	25	4	1753	4	ABCA12	2	215823032	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	6709920	215823032	27376341	8	55126											
HJURP	55355	broad.mit.edu	37	chr2	234756099	234756099	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cgtggcatcgacctcaccgcTttttgaatctaaaagtcaaa	12	11	7	11	3	3	1	2	1	1	0	4	2	3	1	2	1	0	2	2	1	4	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr2:234756099T>C	ENST00000411486.2	-	5	411	c.346A>G	c.(346-348)Agc>Ggc	p.S116G	HJURP_ENST00000432087.1_Intron|HJURP_ENST00000441687.1_Intron	NM_018410.3	NP_060880.3	Q8NCD3	HJURP_HUMAN	Holliday junction recognition protein	116					cell cycle|CenH3-containing nucleosome assembly at centromere|centromeric core chromatin assembly|chromosome segregation|regulation of DNA binding|regulation of protein complex assembly	condensed chromosome kinetochore|cytoplasm|nucleolus|nucleoplasm	DNA binding|histone binding			NS(2)|breast(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(3)|lung(11)|ovary(2)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Breast(86;0.00204)|all_lung(227;0.00433)|Renal(207;0.00685)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0719)|Lung SC(224;0.128)		Epithelial(121;2.01e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000186)|Lung(119;0.00521)|LUSC - Lung squamous cell carcinoma(224;0.00829)		ACCTCACCGCTTTTTGAATCT	0.458													C	234756099	T	C	234756099	3	2	720	1	0	0	0	0	1	0	0	0	7244	1609	56	3	1920	3	HJURP	2	234756099	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	18933067	234756099	8443274	9	55127											
SCN10A	6336	broad.mit.edu	37	chr3	38739124	38739124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcggtgcagcacatagctccGataggccttttgaatgacag	10	9	12	10	2	0	2	0	2	0	0	1	3	1	2	2	2	3	3	2	2	3	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38739124G>A	ENST00000449082.2	-	27	5586	c.5587C>T	c.(5587-5589)Cgg>Tgg	p.R1863W		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1863	IQ.				sensory perception	voltage-gated sodium channel complex		p.R1863W(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ACATAGCTCCGATAGGCCTTT	0.488													A	38739124	G	A	38739124	3	1	720	1	0	0	0	0	1	0	0	0	14005	1057	37	1	287	1	SCN10A	3	38739124	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		38739124	159283306	10	55128											
SCN10A	6336	broad.mit.edu	37	chr3	38812783	38812783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactcacgccagggtaatgaCgctaaaatccagccagttcc	12	8	8	13	2	1	1	1	1	0	0	3	1	3	1	4	1	2	3	4	1	4	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:38812783C>T	ENST00000449082.2	-	4	585	c.586G>A	c.(586-588)Gtc>Atc	p.V196I		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	196					sensory perception	voltage-gated sodium channel complex		p.V196I(1)		NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	AGGGTAATGACGCTAAAATCC	0.458													T	38812783	C	T	38812783	3	4	720	1	0	0	0	0	1	0	0	0	14005	536	19	1	5380	1	SCN10A	3	38812783	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	73659	38812783	159209647	11	55129											
SI	6476	broad.mit.edu	37	chr3	164792423	164792423	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggatttgtagtcacacgagTagtagctggagttgaagtag	12	11	14	4	1	1	1	1	1	0	0	1	4	1	3	0	2	1	6	0	2	5	6			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr3:164792423T>C	ENST00000264382.3	-	3	213	c.151A>G	c.(151-153)Act>Gct	p.T51A		NM_001041.3	NP_001032.2	P14410	SUIS_HUMAN	sucrase-isomaltase (alpha-glucosidase)	51	Ser/Thr-rich.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|brush border|Golgi apparatus|integral to membrane	carbohydrate binding|oligo-1,6-glucosidase activity|sucrose alpha-glucosidase activity			NS(4)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(6)|kidney(10)|large_intestine(18)|lung(124)|ovary(9)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(16)|urinary_tract(1)	218		Prostate(884;0.00314)|Melanoma(1037;0.0153)|all_neural(597;0.0199)			Acarbose(DB00284)	GTCACACGAGTAGTAGCTGGA	0.333										HNSCC(35;0.089)			C	164792423	T	C	164792423	3	2	720	1	0	0	0	0	1	0	0	0	14391	1638	57	3	5516	3	SI	3	164792423	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	125979640	164792423	33230007	12	55130											
PDE6B	5158	broad.mit.edu	37	chr4	658001	658001	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggagacgacccggaaggAgatcgtcatgtgagcgcggg	9	5	17	10	5	1	3	1	1	0	2	2	7	1	4	2	4	1	0	2	4	1	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:658001A>T	ENST00000255622.6	+	17	2163	c.2120A>T	c.(2119-2121)gAg>gTg	p.E707V	PDE6B_ENST00000496514.1_Missense_Mutation_p.E707V|PDE6B_ENST00000429163.2_Missense_Mutation_p.E428V	NM_000283.3|NM_001145291.1	NP_000274.2|NP_001138763	P35913	PDE6B_HUMAN	phosphodiesterase 6B, cGMP-specific, rod, beta	707					cytosolic calcium ion homeostasis|GMP metabolic process|phototransduction, visible light|platelet activation|visual perception	cytosol|membrane	3',5'-cyclic-GMP phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(11)|ovary(2)|prostate(2)|urinary_tract(1)	30						ACCCGGAAGGAGATCGTCATG	0.617													T	658001	A	T	658001	3	4	720	1	0	0	0	0	1	0	0	0	11722	304	11	5	2186	5	PDE6B	4	658001	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		658001	190496275	13	55131											
RBPJ	3516	broad.mit.edu	37	chr4	26426086	26426086	+	Frame_Shift_Del	DEL	T	T	-																															gttcacagcagtggggagccTtttttattcatctctgtgag																										TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:26426086delT	ENST00000342320.4	+	6	792	c.616delT	c.(616-618)tttfs	p.F207fs	RBPJ_ENST00000355476.3_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000342295.1_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000361572.6_Frame_Shift_Del_p.F221fs|RBPJ_ENST00000348160.4_Frame_Shift_Del_p.F208fs|RBPJ_ENST00000504907.1_Frame_Shift_Del_p.F207fs|RBPJ_ENST00000507561.1_Frame_Shift_Del_p.F186fs|RBPJ_ENST00000345843.3_Frame_Shift_Del_p.F206fs			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	221					DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				GTGGGGAGCCTTTTTTATTCA	0.358													-	26426086	T	-	26426086	7	5	720	1	0	1	0	1	0	0	0	0	13249	1609	56	0	743	0	RBPJ	4	26426086	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	25768085	26426086	164728190	14	55132											
PDGFRA	5156	broad.mit.edu	37	chr4	55131143	55131143	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgtgtataagtcaggggAaacgattgtggtcacctgtg	11	10	13	7	2	2	0	2	0	0	0	2	2	2	1	2	3	2	1	2	3	4	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131143A>T	ENST00000257290.5	+	5	1017	c.686A>T	c.(685-687)gAa>gTa	p.E229V	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	229	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AAGTCAGGGGAAACGATTGTG	0.428			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55131143	A	T	55131143	3	4	720	1	0	0	0	0	1	0	0	0	11737	246	9	5	700	5	PDGFRA	4	55131143	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	28705057	55131143	136023133	15	55133			1	87		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55131185	55131185	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtttttaacaatgaggtggTtgaccttcaatggacttacc	10	15	9	7	0	1	2	1	2	0	0	1	3	1	3	2	3	2	2	2	3	4	6			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131185T>G	ENST00000257290.5	+	5	1059	c.728T>G	c.(727-729)gTt>gGt	p.V243G	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	243	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATGAGGTGGTTGACCTTCAA	0.473			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			G	55131185	T	G	55131185	3	3	720	1	0	0	0	0	1	0	0	0	11737	1725	60	5	742	5	PDGFRA	4	55131185	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	42	55131185	136023091	16	55134			1	87		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55131197	55131197	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtggttgaccttcaatGgacttaccctggagaagtgg	9	11	14	7	0	1	3	1	2	0	1	1	5	1	4	2	5	1	1	2	5	3	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55131197G>C	ENST00000257290.5	+	5	1071	c.740G>C	c.(739-741)tGg>tCg	p.W247S	FIP1L1_ENST00000507166.1_Intron|PDGFRA_ENST00000508170.1_3'UTR	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	247	Ig-like C2-type 3.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GACCTTCAATGGACTTACCCT	0.478			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55131197	G	C	55131197	3	2	720	1	0	0	0	0	1	0	0	0	11737	1357	47	4	754	4	PDGFRA	4	55131197	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	12	55131197	136023079	17	55135			1	87		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55136847	55136847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgctaaggaagaagacagtgGccattatactattgtagctc	13	11	10	7	0	0	2	0	0	0	2	1	3	0	3	1	2	3	3	1	2	7	6			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55136847G>A	ENST00000257290.5	+	8	1500	c.1169G>A	c.(1168-1170)gGc>gAc	p.G390D	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	390	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	GAAGACAGTGGCCATTATACT	0.348			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			A	55136847	G	A	55136847	3	1	720	1	0	0	0	0	1	0	0	0	11737	1203	42	2	1195	2	PDGFRA	4	55136847	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	5650	55136847	136017429	18	55136			1	87		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55138644	55138644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgcacagctgaaggcacgCcgcttcctgatattgagtgg	8	9	14	10	2	0	3	0	3	0	0	1	3	1	3	2	3	2	4	2	3	2	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55138644C>T	ENST00000257290.5	+	9	1652	c.1321C>T	c.(1321-1323)Ccg>Tcg	p.P441S	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	441	Ig-like C2-type 5.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	TGAAGGCACGCCGCTTCCTGA	0.468			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			T	55138644	C	T	55138644	3	4	720	1	0	0	0	0	1	0	0	0	11737	739	26	2	1351	2	PDGFRA	4	55138644	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	1797	55138644	136015632	19	55137			1	87		5	5	7502	N	T_G_C_A	2.095301e-09
PDGFRA	5156	broad.mit.edu	37	chr4	55151636	55151636	+	Frame_Shift_Del	DEL	T	T	-																															aagttgcccgaggaatggagTttttggcttcaaaaaatgta																										TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:55151636delT	ENST00000257290.5	+	17	2753	c.2422delT	c.(2422-2424)tttfs	p.F808fs	FIP1L1_ENST00000507166.1_Frame_Shift_Del_p.F568fs	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	808	Protein kinase.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity	p.F808L(1)		NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AGGAATGGAGTTTTTGGCTTC	0.418			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			-	55151636	T	-	55151636	7	5	720	1	0	1	0	1	0	0	0	0	11737	1725	60	0	2484	0	PDGFRA	4	55151636	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	12992	55151636	136002640	20	55138											
TLL1	7092	broad.mit.edu	37	chr4	166795174	166795174	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgattacacttttgatgggAacgaagaggataaaacagag	17	9	11	4	1	0	4	0	2	0	2	0	7	0	6	0	2	3	0	0	2	5	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:166795174A>G	ENST00000061240.2	+	1	765	c.118A>G	c.(118-120)Aac>Gac	p.N40D	TLL1_ENST00000507499.1_Missense_Mutation_p.N40D|TLL1_ENST00000513213.1_Missense_Mutation_p.N40D	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	40					cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		TTTTGATGGGAACGAAGAGGA	0.572													G	166795174	A	G	166795174	3	3	720	1	0	0	0	0	1	0	0	0	16045	246	9	3	120	3	TLL1	4	166795174	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	111643538	166795174	24359102	21	55139											
FAT1	2195	broad.mit.edu	37	chr4	187540255	187540255	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctagttccacttcatattcGttctgaaggaaagcaggact	11	12	9	9	1	2	1	1	1	1	0	4	3	3	3	1	2	1	4	1	2	4	6			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr4:187540255G>A	ENST00000441802.2	-	10	7694	c.7485C>T	c.(7483-7485)aaC>aaT	p.N2495N		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	2495	Cadherin 23.				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CTTCATATTCGTTCTGAAGGA	0.443										HNSCC(5;0.00058)			A	187540255	G	A	187540255	2	1	720	1	0	0	0	0	0	0	0	1	5738	1136	40	1		1	FAT1	4	187540255	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	20745081	187540255	3614021	22	55140											
MYO10	4651	broad.mit.edu	37	chr5	16684040	16684040	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caatcagccccacatccaagGtgccctggaaaagaacaaaa	17	4	7	13	0	1	1	1	0	0	1	2	2	2	2	4	2	3	0	4	2	7	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:16684040G>A	ENST00000513610.1	-	30	4449	c.3995C>T	c.(3994-3996)aCc>aTc	p.T1332I	MYO10_ENST00000515803.1_Missense_Mutation_p.T671I|MYO10_ENST00000505695.1_Missense_Mutation_p.T671I|MYO10_ENST00000427430.2_Missense_Mutation_p.T689I|MYO10_ENST00000274203.9_Missense_Mutation_p.T689I	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1332					axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						CACATCCAAGGTGCCCTGGAA	0.463													A	16684040	G	A	16684040	3	1	720	1	0	0	0	0	1	0	0	0	10138	1261	44	2	2229	2	MYO10	5	16684040	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		16684040	164231220	23	55141											
DUSP1	1843	broad.mit.edu	37	chr5	172195811	172195811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctctgaaggtagctcagcGcactgttcgtggagtggaca	8	9	15	9	2	2	1	1	1	1	0	3	3	2	3	0	4	2	5	0	4	2	2	rs150141714	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr5:172195811G>A	ENST00000239223.3	-	4	1300	c.1058C>T	c.(1057-1059)gCg>gTg	p.A353V	RP11-779O18.3_ENST00000523005.1_RNA	NM_004417.3	NP_004408.1	P28562	DUS1_HUMAN	dual specificity phosphatase 1	353	Tyrosine-protein phosphatase.				cell cycle|endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|breast(2)|endometrium(1)|large_intestine(1)|liver(1)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	Renal(175;0.000159)|Lung NSC(126;0.00431)|all_lung(126;0.00729)	all_hematologic(541;4.11e-18)|Breast(839;0.00637)|Medulloblastoma(196;0.0208)|all_neural(177;0.0416)|Ovarian(839;0.15)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)	GBM - Glioblastoma multiforme(465;0.0103)		GTAGCTCAGCGCACTGTTCGT	0.617													A	172195811	G	A	172195811	3	1	720	1	0	0	0	0	1	0	0	0	4848	1087	38	1	49	1	DUSP1	5	172195811	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	155511771	172195811	8719449	24	55142											
SYNCRIP	10492	broad.mit.edu	37	chr6	86324886	86324886	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caacttgaaaatcttcataaCcatagtatggatcttcatat	15	14	4	8	0	4	1	2	1	2	0	4	2	4	2	1	1	2	1	1	1	7	7			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:86324886C>G	ENST00000355238.6	-	11	1666	c.1460G>C	c.(1459-1461)gGt>gCt	p.G487A	RP11-321N4.5_ENST00000503906.1_Missense_Mutation_p.V23L|SYNCRIP_ENST00000369622.3_Missense_Mutation_p.G487A	NM_001159673.1|NM_001159674.1|NM_001159676.1|NM_001159677.1|NM_001253771.1	NP_001153145.1|NP_001153146.1|NP_001153148.1|NP_001153149.1|NP_001240700.1	O60506	HNRPQ_HUMAN	synaptotagmin binding, cytoplasmic RNA interacting protein	487	3 X 4 AA repeats of Y-Y-G-Y.|8 X 3 AA repeats of R-G-G.|Interaction with APOBEC1.				CRD-mediated mRNA stabilization|interspecies interaction between organisms	catalytic step 2 spliceosome|CRD-mediated mRNA stability complex|endoplasmic reticulum|histone pre-mRNA 3'end processing complex|microsome|nucleoplasm	nucleotide binding|protein binding			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	33		all_cancers(76;0.000137)|Acute lymphoblastic leukemia(125;3.66e-08)|Prostate(29;8.2e-07)|all_hematologic(105;8.61e-05)|all_epithelial(107;0.0297)		BRCA - Breast invasive adenocarcinoma(108;0.0389)		ATCTTCATAACCATAGTATGG	0.438													G	86324886	C	G	86324886	3	3	720	1	0	0	0	0	1	0	0	0	15541	507	18	4	461	4	SYNCRIP	6	86324886	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		86324886	84790181	25	55143											
EPHA7	2045	broad.mit.edu	37	chr6	93964444	93964444	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctattccatagctccatacaTcactggctgatgtgaatttc	10	14	6	11	0	1	2	1	2	0	0	4	2	3	2	2	1	2	2	2	1	4	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr6:93964444T>C	ENST00000369303.4	-	14	2637	c.2453A>G	c.(2452-2454)gAt>gGt	p.D818G		NM_004440.3	NP_004431.1	Q15375	EPHA7_HUMAN	EPH receptor A7	818	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(7)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(16)|lung(43)|ovary(8)|pancreas(1)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(13)|urinary_tract(1)	112		all_cancers(76;7.47e-10)|Acute lymphoblastic leukemia(125;1.88e-09)|all_hematologic(75;1.75e-07)|all_epithelial(107;3.6e-05)|Lung NSC(302;0.0368)|all_lung(197;0.0509)|Colorectal(196;0.142)		BRCA - Breast invasive adenocarcinoma(108;0.0847)		GCTCCATACATCACTGGCTGA	0.383													C	93964444	T	C	93964444	3	2	720	1	0	0	0	0	1	0	0	0	5213	1435	50	3	559	3	EPHA7	6	93964444	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08	7639558	93964444	77150623	26	55144											
TSGA13	114960	broad.mit.edu	37	chr7	130364078	130364078	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgagcagggaggtgggttgTtggtcataatcagtaacgtc	9	12	15	5	1	2	1	2	1	0	0	3	2	2	2	0	4	2	4	0	4	2	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr7:130364078T>C	ENST00000456951.1	-	6	1153	c.302A>G	c.(301-303)aAc>aGc	p.N101S	TSGA13_ENST00000356588.3_Missense_Mutation_p.N101S			Q96PP4	TSG13_HUMAN	testis specific, 13	101										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					AGGTGGGTTGTTGGTCATAAT	0.438													C	130364078	T	C	130364078	3	2	720	1	0	0	0	0	1	0	0	0	16720	1725	60	3	541	3	TSGA13	7	130364078	Missense_Mutation	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08		130364078	28774585	27	55145											
ADAM2	2515	broad.mit.edu	37	chr8	39678649	39678649	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccaactgaagactccagggGttctattccataactaacat	13	10	7	11	0	1	2	0	1	1	1	3	2	3	2	3	2	3	1	3	2	5	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:39678649G>T	ENST00000265708.4	-	6	488	c.385C>A	c.(385-387)Ccc>Acc	p.P129T	ADAM2_ENST00000521880.1_Missense_Mutation_p.P129T|ADAM2_ENST00000347580.4_Missense_Mutation_p.P129T|ADAM2_ENST00000523181.1_5'UTR|ADAM2_ENST00000379853.2_Missense_Mutation_p.P129T	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	129					cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GACTCCAGGGGTTCTATTCCA	0.308													T	39678649	G	T	39678649	3	4	720	1	0	0	0	0	1	0	0	0	241	1261	44	4	1882	4	ADAM2	8	39678649	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		39678649	106685373	28	55146											
SLC45A4	57210	broad.mit.edu	37	chr8	142228943	142228943	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagggcgccgggctcctcagCgctgcgctcctgctgcgggc	2	6	16	17	5	1	0	1	0	0	0	3	0	3	0	3	3	4	4	3	3	0	0	rs139911158	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:142228943C>T	ENST00000519067.1	-	4	946	c.643G>A	c.(643-645)Gct>Act	p.A215T	SLC45A4_ENST00000024061.3_Missense_Mutation_p.A215T|SLC45A4_ENST00000433583.2_Missense_Mutation_p.A208T|SLC45A4_ENST00000517878.1_Missense_Mutation_p.A266T			Q5BKX6	S45A4_HUMAN	solute carrier family 45, member 4	266					transport	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(9)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31	all_cancers(97;1.52e-15)|all_epithelial(106;2.92e-14)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0493)			GGCTCCTCAGCGCTGCGCTCC	0.672													T	142228943	C	T	142228943	3	4	720	1	0	0	0	0	1	0	0	0	14737	768	27	1	1773	1	SLC45A4	8	142228943	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	102550294	142228943	4135079	29	55147											
SPATC1	375686	broad.mit.edu	37	chr8	145095874	145095874	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacgcccactccccacctcGtacctcatcctccccggctt	6	8	4	23	3	1	0	1	0	0	0	5	0	4	0	8	1	2	2	8	1	2	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr8:145095874G>A	ENST00000377470.3	+	3	1274	c.1172G>A	c.(1171-1173)cGt>cAt	p.R391H	SPATC1_ENST00000447830.2_Missense_Mutation_p.R391H	NM_198572.2	NP_940974.2	Q76KD6	SPERI_HUMAN	spermatogenesis and centriole associated 1	391										NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	15	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;6.79e-41)|Epithelial(56;1.02e-39)|all cancers(56;3.67e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			TCCCCACCTCGTACCTCATCC	0.622													A	145095874	G	A	145095874	3	1	720	1	0	0	0	0	1	0	0	0	15113	1145	40	1	1182	1	SPATC1	8	145095874	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	2866931	145095874	1268148	30	55148											
TMEM2	23670	broad.mit.edu	37	chr9	74355062	74355062	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgggcaagagccttcccgCcactgctatgattttcatag	8	13	9	11	1	1	2	1	1	0	1	2	2	2	2	3	1	2	2	3	1	3	6			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:74355062C>A	ENST00000377044.4	-	5	1660	c.1121G>T	c.(1120-1122)gGc>gTc	p.G374V	TMEM2_ENST00000377066.5_Missense_Mutation_p.G374V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	374						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		AGCCTTCCCGCCACTGCTATG	0.433													A	74355062	C	A	74355062	3	1	720	1	0	0	0	0	1	0	0	0	16221	739	26	4	3110	4	TMEM2	9	74355062	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		74355062	66858369	31	55149											
UBQLN1	29979	broad.mit.edu	37	chr9	86294709	86294717	+	In_Frame_Del	DEL	TTATTCAAC	TTATTCAAC	-																															cttgtctcattatatctggaTtattcaacatatgactaatt																										TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:86294709_86294717delTTATTCAAC	ENST00000376395.4	-	4	1207_1215	c.684_692delGTTGAATAA	c.(682-693)atgttgaataat>att	p.228_231MLNN>I	UBQLN1_ENST00000257468.7_In_Frame_Del_p.228_231MLNN>I	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	228					apoptosis|regulation of protein ubiquitination|response to hypoxia	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm|proteasome complex	kinase binding			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TATATCTGGATTATTCAACATATGACTAA	0.33													-	86294717	TTATTCAAC	-	86294709	7	5	720	1	0	1	0	1	0	0	0	0	16998	1493	52	0	1109	0	UBQLN1	9	86294709	In_Frame_Del	DEL	TTATTCAAC	TCGA-S9-A7IS-01A-11D-A34A-08	11939647	86294709	54918722	32	55150											
CAMSAP1	157922	broad.mit.edu	37	chr9	138713204	138713204	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcagctccgccggccttccGgaacgggaattccggccttg	5	9	12	15	5	1	0	1	0	0	0	4	2	4	2	6	4	2	1	6	4	2	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr9:138713204G>A	ENST00000389532.4	-	11	3367	c.3303C>T	c.(3301-3303)tcC>tcT	p.S1101S	CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Silent_p.S1112S|CAMSAP1_ENST00000312405.6_Silent_p.S823S	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	1101						cytoplasm|microtubule				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		CCGGCCTTCCGGAACGGGAAT	0.642													A	138713204	G	A	138713204	2	1	720	1	0	0	0	0	0	0	0	1	2637	1103	39	1		1	CAMSAP1	9	138713204	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	52418495	138713204	2500227	33	55151											
STAM	8027	broad.mit.edu	37	chr10	17756581	17756581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	caaggaaacacatatcccagCcaggcgccagtatatagtcc	14	6	8	13	1	0	0	0	0	0	0	2	1	2	1	4	2	2	1	4	2	6	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:17756581C>G	ENST00000377524.3	+	14	1640	c.1425C>G	c.(1423-1425)agC>agG	p.S475R	STAM_ENST00000540523.1_Missense_Mutation_p.S364R	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	475					cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						CATATCCCAGCCAGGCGCCAG	0.473													G	17756581	C	G	17756581	3	3	720	1	0	0	0	0	1	0	0	0	15344	738	26	4	1479	4	STAM	10	17756581	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		17756581	117778166	34	55152											
RET	5979	broad.mit.edu	37	chr10	43604537	43604537	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcaccatgcagctggcggtGctggtcaatgactcagactt	8	9	12	12	2	2	2	2	1	0	1	2	2	2	2	1	3	3	4	1	3	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:43604537G>A	ENST00000355710.3	+	6	1354	c.1122G>A	c.(1120-1122)gtG>gtA	p.V374V	RET_ENST00000340058.5_Silent_p.V374V	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	374					homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	AGCTGGCGGTGCTGGTCAATG	0.622		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				A	43604537	G	A	43604537	2	1	720	1	0	0	0	0	0	0	0	1	13323	1306	46	2		2	RET	10	43604537	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	25847956	43604537	91930210	35	55153											
PRF1	5551	broad.mit.edu	37	chr10	72358782	72358782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggcagtgagggccgatatgCggccacccagctccacagcc	8	4	14	15	2	0	1	0	1	0	0	1	2	1	1	5	3	3	2	5	3	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr10:72358782C>T	ENST00000441259.1	-	3	855	c.695G>A	c.(694-696)cGc>cAc	p.R232H	PRF1_ENST00000373209.2_Missense_Mutation_p.R232H	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	232	MACPF.				apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						GGCCGATATGCGGCCACCCAG	0.657			M			"various leukaemia, lymphoma"	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis				T	72358782	C	T	72358782	3	4	720	1	0	0	0	0	1	0	0	0	12564	768	27	1	976	1	PRF1	10	72358782	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	28754245	72358782	63175965	36	55154											
HBB	3043	broad.mit.edu	37	chr11	5248019	5248019	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cctctgggtccaagggtagaCcaccagcagcctaagggtgg	9	6	14	12	0	1	1	0	0	1	1	2	1	2	1	5	4	2	2	5	4	3	2	rs1141387		TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5248019C>A	ENST00000335295.4	-	2	152	c.103G>T	c.(103-105)Gtc>Ttc	p.V35F		NM_000518.4	NP_000509.1	P68871	HBB_HUMAN	hemoglobin, beta				V -> D (in Santander; unstable).|V -> F (in Pitie-Salpetriere; O(2) affinity up).|V -> L (in Nantes; increased oxygen affinity).		blood coagulation|hydrogen peroxide catabolic process|nitric oxide transport|positive regulation of cell death|positive regulation of nitric oxide biosynthetic process|protein heterooligomerization|regulation of blood pressure|regulation of blood vessel size	haptoglobin-hemoglobin complex|hemoglobin complex	heme binding|hemoglobin binding|oxygen binding|oxygen transporter activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)	15		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	Iron Dextran(DB00893)	CAAGGGTAGACCACCAGCAGC	0.507									Sickle Cell Trait				A	5248019	C	A	5248019	3	1	720	1	0	0	0	0	1	0	0	0	7033	507	18	4	348	4	HBB	11	5248019	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		5248019	129758497	37	55155											
HBG2	3048	broad.mit.edu	37	chr11	5275635	5275635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	atctcccaaggaagtcagcaCcttcttgccatgtgccttga	9	11	8	13	0	3	1	1	1	2	0	4	2	3	2	4	1	3	1	4	1	2	3			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:5275635C>A	ENST00000380259.2	-	7	1442	c.202G>T	c.(202-204)Gtg>Ttg	p.V68L	HBG2_ENST00000336906.4_Missense_Mutation_p.V68L|HBG2_ENST00000380252.1_Missense_Mutation_p.V58L					hemoglobin, gamma G											endometrium(1)|large_intestine(2)|lung(7)|prostate(1)|skin(2)	13		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GAAGTCAGCACCTTCTTGCCA	0.537													A	5275635	C	A	5275635	3	1	720	1	0	0	0	0	1	0	0	0	7038	507	18	4	249	4	HBG2	11	5275635	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	27616	5275635	129730881	38	55156											
DCDC1	341019	broad.mit.edu	37	chr11	31312192	31312192	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaatatttaattaaaaattAcctttttcattgtttctttt	12	23	1	5	0	3	0	2	0	1	0	3	0	3	0	1	0	1	1	1	0	7	11			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:31312192A>G	ENST00000597505.1	-	5	960		c.e5+1		DCDC1_ENST00000452803.1_Splice_Site			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					ATTAAAAATTACCTTTTTCAT	0.333													G	31312192	A	G	31312192	5	3	720	1	0	0	0	0	0	0	1	0	4318	405	14	3	114	3	DCDC1	11	31312192	Splice_Site	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	26036557	31312192	103694324	39	55157											
AHNAK	79026	broad.mit.edu	37	chr11	62296869	62296869	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accttctaccttgggcacagAcacatccatatcccctttga	10	11	5	15	0	1	2	0	1	1	1	3	2	3	2	5	1	1	1	5	1	2	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:62296869A>G	ENST00000378024.4	-	5	5294	c.5020T>C	c.(5020-5022)Tct>Cct	p.S1674P	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1674					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TTGGGCACAGACACATCCATA	0.493													G	62296869	A	G	62296869	3	3	720	1	0	0	0	0	1	0	0	0	414	275	10	3	12772	3	AHNAK	11	62296869	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	30984677	62296869	72709647	40	55158											
PCF11	51585	broad.mit.edu	37	chr11	82877730	82877730	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tccaagtctgccaaaagatgGaaatctggttgggaagaaaa	16	8	11	6	0	2	2	0	0	2	2	3	4	3	4	2	3	1	1	2	3	7	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:82877730G>A	ENST00000298281.4	+	5	2243	c.1791G>A	c.(1789-1791)tgG>tgA	p.W597*		NM_015885.3	NP_056969.2	O94913	PCF11_HUMAN	PCF11 cleavage and polyadenylation factor subunit	597					mRNA 3'-end processing|mRNA cleavage|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage factor complex				cervix(1)|endometrium(3)|kidney(4)|large_intestine(1)|lung(22)|ovary(1)|urinary_tract(1)	33						CCAAAAGATGGAAATCTGGTT	0.343													A	82877730	G	A	82877730	4	1	720	1	0	0	0	0	0	1	0	0	11649	1183	41	2	1809	2	PCF11	11	82877730	Nonsense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	20580861	82877730	52128786	41	55159											
FAT3	120114	broad.mit.edu	37	chr11	92535041	92535041	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgggacagagacacatcCgacgttaatcgccaagtgag	13	6	11	11	3	0	2	0	1	0	1	2	5	1	3	3	1	0	1	3	1	2	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr11:92535041C>T	ENST00000298047.6	+	9	8879	c.8862C>T	c.(8860-8862)tcC>tcT	p.S2954S	FAT3_ENST00000409404.2_Silent_p.S2954S|FAT3_ENST00000525166.1_Silent_p.S2804S			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	2954	Cadherin 27.				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				GAGACACATCCGACGTTAATC	0.527										TCGA Ovarian(4;0.039)			T	92535041	C	T	92535041	2	4	720	1	0	0	0	0	0	0	0	1	5740	639	23	1		1	FAT3	11	92535041	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	9657311	92535041	42471475	42	55160											
WNK1	65125	broad.mit.edu	37	chr12	862984	862984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcttccgccggagcgtcAtctgtgactccaatgccact	6	11	9	15	3	3	1	1	1	2	0	5	2	5	2	4	1	2	1	4	1	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:862984A>G	ENST00000537687.1	+	1	896	c.253A>G	c.(253-255)Atc>Gtc	p.I85V	WNK1_ENST00000530271.2_Missense_Mutation_p.I85V|WNK1_ENST00000447667.2_Missense_Mutation_p.I85V|WNK1_ENST00000315939.6_Missense_Mutation_p.I85V|WNK1_ENST00000535572.1_Missense_Mutation_p.I85V	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	85					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCGGAGCGTCATCTGTGACTC	0.672													G	862984	A	G	862984	3	3	720	1	0	0	0	0	1	0	0	0	17479	217	8	3	255	3	WNK1	12	862984	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08		862984	132988911	43	55161											
ARID2	196528	broad.mit.edu	37	chr12	46123891	46123892	+	Frame_Shift_Del	DEL	AG	AG	-																															atcttcacggtctctacaccAgagtcactactttaggcgga																										TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:46123891_46123892delAG	ENST00000334344.6	+	2	329_330	c.157_158delAG	c.(157-159)agafs	p.R53fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	53	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		TCTCTACACCAGAGTCACTACT	0.53			"N, S, F"		hepatocellular carcinoma								-	46123892	AG	-	46123891	7	5	720	1	0	1	0	1	0	0	0	0	918	180	7	0	163	0	ARID2	12	46123891	Frame_Shift_Del	DEL	AG	TCGA-S9-A7IS-01A-11D-A34A-08	45260907	46123891	87728004	44	55162											
CHST11	50515	broad.mit.edu	37	chr12	105151332	105151332	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactctgccatccctgccaCatccactatgacctcgtggg	7	10	7	17	1	2	1	1	1	1	0	5	1	4	1	5	1	2	0	5	1	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr12:105151332C>T	ENST00000303694.5	+	3	1249	c.810C>T	c.(808-810)caC>caT	p.H270H	CHST11_ENST00000549260.1_Silent_p.H265H	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	270					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						ATCCCTGCCACATCCACTATG	0.557													T	105151332	C	T	105151332	2	4	720	1	0	0	0	0	0	0	0	1	3429	477	17	2		2	CHST11	12	105151332	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	59027441	105151332	28700563	45	55163											
FREM2	341640	broad.mit.edu	37	chr13	39263024	39263024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggctgagctggcagccGgccaggtggtctaccagcat	7	7	15	12	1	1	1	0	1	1	0	1	1	1	1	3	5	4	4	3	5	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr13:39263024G>A	ENST00000280481.7	+	1	1759	c.1543G>A	c.(1543-1545)Ggc>Agc	p.G515S		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	515					cell communication|homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCTGGCAGCCGGCCAGGTGGT	0.602													A	39263024	G	A	39263024	3	1	720	1	0	0	0	0	1	0	0	0	6097	1116	39	1	1545	1	FREM2	13	39263024	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		39263024	75906854	46	55164											
GABRG3	2567	broad.mit.edu	37	chr15	27772702	27772702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctgtttgtcttcgccgCgctgatggagtatgccaccc	4	13	10	14	3	1	1	0	1	1	0	3	2	2	2	4	1	1	3	4	1	1	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:27772702C>T	ENST00000333743.6	+	8	1243	c.989C>T	c.(988-990)gCg>gTg	p.A330V	RP11-100M12.3_ENST00000556642.1_RNA	NM_033223.4	NP_150092.2	Q99928	GBRG3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 3	330					gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	p.A330V(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(23)|skin(1)|upper_aerodigestive_tract(4)	42		all_lung(180;4.58e-12)|Breast(32;0.000625)|Colorectal(260;0.235)		all cancers(64;3.15e-07)|Epithelial(43;1.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0261)		GTCTTCGCCGCGCTGATGGAG	0.547													T	27772702	C	T	27772702	3	4	720	1	0	0	0	0	1	0	0	0	6225	768	27	1	1019	1	GABRG3	15	27772702	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		27772702	74758690	47	55165											
OCA2	4948	broad.mit.edu	37	chr15	28263615	28263615	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	accacgatgtgctcttccctCccaggacgactcggcccact	7	8	8	18	3	1	0	0	0	1	0	4	3	3	1	4	2	1	1	4	2	0	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:28263615C>T	ENST00000354638.3	-	7	890	c.735G>A	c.(733-735)ggG>ggA	p.G245G	OCA2_ENST00000382996.2_Silent_p.G245G|OCA2_ENST00000353809.5_Silent_p.G245G	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	245					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		GCTCTTCCCTCCCAGGACGAC	0.612									Oculocutaneous Albinism				T	28263615	C	T	28263615	2	4	720	1	0	0	0	0	0	0	0	1	10891	842	30	2		2	OCA2	15	28263615	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	490913	28263615	74267777	48	55166											
LYSMD4	145748	broad.mit.edu	37	chr15	100269717	100269717	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtcaatccccttaaagaagcCcatcagttggccggcctggg	9	8	11	13	1	2	1	2	0	0	1	3	1	3	1	5	3	1	1	5	3	4	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr15:100269717C>T	ENST00000545021.1	-	4	938	c.124G>A	c.(124-126)Ggc>Agc	p.G42S	LYSMD4_ENST00000604213.1_Intron|LYSMD4_ENST00000409796.1_Missense_Mutation_p.G168S|LYSMD4_ENST00000344791.2_Missense_Mutation_p.G169S|LYSMD4_ENST00000332728.4_Missense_Mutation_p.G168S			Q5XG99	LYSM4_HUMAN	LysM, putative peptidoglycan-binding, domain containing 4	168					cell wall macromolecule catabolic process	integral to membrane				breast(1)|cervix(1)|kidney(2)|large_intestine(2)|lung(3)|stomach(1)	10	Lung NSC(78;0.00335)|all_lung(78;0.00659)|Melanoma(26;0.00778)|Medulloblastoma(229;0.163)		OV - Ovarian serous cystadenocarcinoma(32;0.00162)|LUSC - Lung squamous cell carcinoma(107;0.17)|Lung(145;0.208)			TTAAAGAAGCCCATCAGTTGG	0.567													T	100269717	C	T	100269717	3	4	720	1	0	0	0	0	1	0	0	0	9198	623	22	2	392	2	LYSMD4	15	100269717	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	72006102	100269717	2261675	49	55167											
ZSCAN10	84891	broad.mit.edu	37	chr16	3140076	3140076	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcttctggtcctgggcgtgCgccagcaggtgctgcacaag	5	8	16	12	2	1	0	0	0	1	0	2	0	2	0	2	4	4	4	2	4	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:3140076C>T	ENST00000252463.2	-	5	1281	c.1194G>A	c.(1192-1194)gcG>gcA	p.A398A	ZSCAN10_ENST00000575108.1_Silent_p.A59A|ZSCAN10_ENST00000538082.2_Silent_p.A316A	NM_032805.1	NP_116194.1	Q96SZ4	ZSC10_HUMAN	zinc finger and SCAN domain containing 10	398					negative regulation of transcription, DNA-dependent|viral reproduction	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|cervix(3)|endometrium(3)|kidney(1)|lung(8)|ovary(2)|prostate(1)|skin(4)|urinary_tract(1)	24						CCTGGGCGTGCGCCAGCAGGT	0.697													T	3140076	C	T	3140076	2	4	720	1	0	0	0	0	0	0	0	1	18326	755	27	1		1	ZSCAN10	16	3140076	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		3140076	87214677	50	55168											
DNAH3	55567	broad.mit.edu	37	chr16	21031081	21031081	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgttgatggtgccagccaCggtccacaccaaggaaaaga	12	6	12	11	2	0	2	0	1	0	1	1	3	1	3	4	3	3	1	4	3	3	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:21031081C>T	ENST00000261383.3	-	41	5886	c.5887G>A	c.(5887-5889)Gtg>Atg	p.V1963M	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1963					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		GTGCCAGCCACGGTCCACACC	0.488													T	21031081	C	T	21031081	3	4	720	1	0	0	0	0	1	0	0	0	4642	536	19	1	6550	1	DNAH3	16	21031081	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	17891005	21031081	69323672	51	55169											
CHD9	80205	broad.mit.edu	37	chr16	53288443	53288443	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagagagagatgtttgacCgagccagtttgaaactgggc	12	9	14	6	1	0	5	0	3	0	2	0	8	0	5	2	1	2	2	2	1	1	2			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr16:53288443C>T	ENST00000566029.1	+	18	4164	c.3955C>T	c.(3955-3957)Cga>Tga	p.R1319*	CHD9_ENST00000398510.3_Nonsense_Mutation_p.R1319*|CHD9_ENST00000447540.1_Nonsense_Mutation_p.R1319*|CHD9_ENST00000564845.1_Nonsense_Mutation_p.R1319*			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	1319	Helicase C-terminal.				cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				GATGTTTGACCGAGCCAGTTT	0.413													T	53288443	C	T	53288443	4	4	720	1	0	0	0	0	0	1	0	0	3362	644	23	1	4021	1	CHD9	16	53288443	Nonsense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	32257362	53288443	37066310	52	55170											
TNS4	84951	broad.mit.edu	37	chr17	38635967	38635967	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatgccctgctctgtgacTttgaagtggaccacggtggg	6	11	15	9	1	1	3	0	3	1	0	1	4	1	4	2	3	2	1	2	3	1	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr17:38635967T>C	ENST00000254051.6	-	10	2027	c.1869A>G	c.(1867-1869)aaA>aaG	p.K623K		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	623	Phosphatase tensin-type.			K -> E (in Ref. 1; AAN32666 and 3; BAB55413).	apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			GCTCTGTGACTTTGAAGTGGA	0.617													C	38635967	T	C	38635967	2	2	720	1	0	0	0	0	0	0	0	1	16445	1606	56	3		3	TNS4	17	38635967	Silent	SNP	T	TCGA-S9-A7IS-01A-11D-A34A-08		38635967	42559243	53	55171											
NUCB1	4924	broad.mit.edu	37	chr19	49425109	49425111	+	In_Frame_Del	DEL	AGC	AGC	-																															gctgcacatggagcagcggaAgcagcagcagcagcagcagc																										TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:49425109_49425111delAGC	ENST00000405315.4	+	12	1533_1535	c.1199_1201delAGC	c.(1198-1203)aagcag>aag	p.Q407del	NUCB1_ENST00000407032.1_In_Frame_Del_p.Q407del|NUCB1_ENST00000263273.5_In_Frame_Del_p.Q407del|NUCB1_ENST00000485798.1_3'UTR	NM_006184.5	NP_006175.2	Q02818	NUCB1_HUMAN	nucleobindin 1	407	Poly-Gln.					ER-Golgi intermediate compartment|extracellular space|Golgi apparatus|membrane|microtubule cytoskeleton	calcium ion binding|DNA binding			cervix(1)|endometrium(4)|large_intestine(4)|lung(8)	17		all_lung(116;4.89e-05)|Lung NSC(112;8.3e-05)|all_epithelial(76;8.64e-05)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;0.000171)|all cancers(93;0.000333)|Epithelial(262;0.0174)|GBM - Glioblastoma multiforme(486;0.0244)		Gagcagcggaagcagcagcagca	0.64													-	49425111	AGC	-	49425109	7	5	720	1	0	1	0	1	0	0	0	0	10794	72	3	0	1241	0	NUCB1	19	49425109	In_Frame_Del	DEL	AGC	TCGA-S9-A7IS-01A-11D-A34A-08		49425109	9703874	54	55172											
KLK12	43849	broad.mit.edu	37	chr19	51535256	51535256	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgggcaggcgcagccgcagCagccggaggtcgtgctcgtg	6	4	18	13	6	0	0	0	0	0	0	2	1	0	1	2	4	4	5	2	4	0	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:51535256C>A	ENST00000525263.1	-	3	452	c.333G>T	c.(331-333)ctG>ctT	p.L111L	KLK12_ENST00000250352.11_Intron|KLK12_ENST00000250351.4_Silent_p.L111L|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000319590.4_Silent_p.L111L|CTC-518B2.9_ENST00000594910.1_RNA			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	111	Peptidase S1.				proteolysis	extracellular region|soluble fraction	serine-type endopeptidase activity			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		GCAGCCGCAGCAGCCGGAGGT	0.682													A	51535256	C	A	51535256	2	1	720	1	0	0	0	0	0	0	0	1	8458	697	25	4		4	KLK12	19	51535256	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	2110147	51535256	7593727	55	55173											
LILRA4	23547	broad.mit.edu	37	chr19	54849448	54849448	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcacaccggagggtcacGttcactcctgaggtcaccac	9	6	12	14	2	3	1	3	1	0	0	4	3	4	2	3	4	0	2	3	4	0	1	rs138743259	byFrequency	TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr19:54849448G>A	ENST00000291759.4	-	4	470	c.414C>T	c.(412-414)aaC>aaT	p.N138N		NM_012276.3	NP_036408.3	P59901	LIRA4_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 4	138	Ig-like C2-type 2.					integral to membrane	receptor activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(5)|lung(13)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	32	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0565)		GGAGGGTCACGTTCACTCCTG	0.572													A	54849448	G	A	54849448	2	1	720	1	0	0	0	0	0	0	0	1	8847	1136	40	1		1	LILRA4	19	54849448	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	3314192	54849448	4279535	56	55174											
SEL1L2	80343	broad.mit.edu	37	chr20	13856732	13856732	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggcagtagcgttattttgCggcacggcagcattcccctc	8	10	11	12	3	0	0	0	0	0	0	2	0	1	0	2	3	3	6	2	3	3	5			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:13856732C>T	ENST00000284951.5	-	12	1130	c.1056G>A	c.(1054-1056)ccG>ccA	p.P352P	SEL1L2_ENST00000486903.1_5'UTR|SEL1L2_ENST00000378072.5_Silent_p.P352P			Q5TEA6	SE1L2_HUMAN	sel-1 suppressor of lin-12-like 2 (C. elegans)	352						integral to membrane	binding	p.P352P(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|lung(25)|ovary(2)|skin(3)|urinary_tract(1)	51						CGTTATTTTGCGGCACGGCAG	0.348													T	13856732	C	T	13856732	2	4	720	1	0	0	0	0	0	0	0	1	14104	755	27	1		1	SEL1L2	20	13856732	Silent	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08		13856732	49168788	57	55175											
CD93	22918	broad.mit.edu	37	chr20	23065956	23065956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccaggtcatccagcagccGgaatcctggtcggcagccgc	8	5	12	16	3	1	0	1	0	0	0	4	1	3	1	5	4	3	2	5	4	1	0			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chr20:23065956G>A	ENST00000246006.4	-	1	1021	c.874C>T	c.(874-876)Cgg>Tgg	p.R292W		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	292	EGF-like 1.				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	p.R292G(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TCCAGCAGCCGGAATCCTGGT	0.627													A	23065956	G	A	23065956	3	1	720	1	0	0	0	0	1	0	0	0	3077	1115	39	1	1092	1	CD93	20	23065956	Missense_Mutation	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08	9209224	23065956	39959564	58	55176											
P2RY8	286530	broad.mit.edu	37	chrX	1585386	1585386	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accacgggcagggccaccgcGatcgccgggttccgcagcat	7	4	14	16	6	0	0	0	0	0	0	2	1	1	0	5	3	1	4	5	3	0	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:1585386G>A	ENST00000381297.4	-	2	276	c.66C>T	c.(64-66)atC>atT	p.I22I	P2RY8_ENST00000460672.1_5'UTR	NM_178129.4	NP_835230.1	Q86VZ1	P2RY8_HUMAN	purinergic receptor P2Y, G-protein coupled, 8	22						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(13)|prostate(1)	23		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				GGGCCACCGCGATCGCCGGGT	0.697			T	CRLF2	"B-ALL, Downs associated ALL"								A	1585386	G	A	1585386	2	1	720	1	0	0	0	0	0	0	0	1	11431	1048	37	1		1	P2RY8	23	1585386	Silent	SNP	G	TCGA-S9-A7IS-01A-11D-A34A-08		1585386	153685174	59	55177											
ATRX	546	broad.mit.edu	37	chrX	76920173	76920173	+	Frame_Shift_Del	DEL	T	T	-																															ttcattttgttttccagttcTttttttcccttcttctggct																										TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:76920173delT	ENST00000373344.5	-	11	4118	c.3904delA	c.(3904-3906)agafs	p.R1302fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.R1264fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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)	TTTCCAGTTCTTTTTTTCCCT	0.378			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76920173	T	-	76920173	7	5	720	1	0	1	0	1	0	0	0	0	1213	1617	56	0	3674	0	ATRX	23	76920173	Frame_Shift_Del	DEL	T	TCGA-S9-A7IS-01A-11D-A34A-08	75334787	76920173	78350387	60	55178											
RNF113A	7737	broad.mit.edu	37	chrX	119004589	119004589	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcggggtcttctggcaagtCggaagcaccaccctctcctg	7	9	11	14	2	3	0	0	0	3	0	6	1	3	1	3	4	1	2	3	4	2	1			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:119004589C>T	ENST00000371442.2	-	1	1202	c.988G>A	c.(988-990)Gac>Aac	p.D330N		NM_006978.2	NP_008909.1	O15541	R113A_HUMAN	ring finger protein 113A	330							nucleic acid binding|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(6)	15						TCTGGCAAGTCGGAAGCACCA	0.418													T	119004589	C	T	119004589	3	4	720	1	0	0	0	0	1	0	0	0	13518	884	31	1	47	1	RNF113A	23	119004589	Missense_Mutation	SNP	C	TCGA-S9-A7IS-01A-11D-A34A-08	42084416	119004589	36265971	61	55179											
IGSF1	3547	broad.mit.edu	37	chrX	130409952	130409952	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccagtcacccagatcataAggggcatactgagatatgac	14	8	9	10	0	2	3	2	2	0	2	2	4	2	3	2	2	2	1	2	2	4	4			TCGA-S9-A7IS-01A-11D-A34A-08	TCGA-S9-A7IS-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fd7e72c6-76b7-4a02-88c6-3758b6236763	55d139ea-5e3d-418f-aaa1-e4f54b9f82c1	g.chrX:130409952A>G	ENST00000370904.1	-	21	3762	c.2852T>C	c.(2851-2853)cTt>cCt	p.L951P	IGSF1_ENST00000467244.1_Intron|IGSF1_ENST00000361420.3_Missense_Mutation_p.L960P|IGSF1_ENST00000370910.1_Missense_Mutation_p.L951P|IGSF1_ENST00000370903.3_Missense_Mutation_p.L965P			Q8N6C5	IGSF1_HUMAN	immunoglobulin superfamily, member 1	960	Ig-like C2-type 9.				regulation of transcription, DNA-dependent	extracellular region|integral to membrane	inhibin beta-A binding|inhibin beta-B binding			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(15)|liver(1)|lung(37)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)	78						CCAGATCATAAGGGGCATACT	0.507													G	130409952	A	G	130409952	3	3	720	1	0	0	0	0	1	0	0	0	7654	72	3	3	1155	3	IGSF1	23	130409952	Missense_Mutation	SNP	A	TCGA-S9-A7IS-01A-11D-A34A-08	11405363	130409952	24860608	62	55180											
MAST2	23139	broad.mit.edu	37	chr1	46295175	46295175	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggtgacttggcagtcGtcaggagaagcatcaaacct	12	7	13	9	1	2	2	2	1	0	1	3	4	2	3	1	4	2	2	1	4	2	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:46295175G>A	ENST00000361297.2	+	3	673	c.390G>A	c.(388-390)tcG>tcA	p.S130S	MAST2_ENST00000372009.2_Silent_p.S130S	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN	microtubule associated serine/threonine kinase 2	130					regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity			breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTTGGCAGTCGTCAGGAGAAG	0.468													A	46295175	G	A	46295175	2	1	721	1	0	0	0	0	0	0	0	1	9400	1132	40	1		1	MAST2	1	46295175	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		46295175	202955446	1	55181											
ECHDC2	55268	broad.mit.edu	37	chr1	53377301	53377301	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acgcacttgccggtcctcccGcagctgggccagagtttcca	6	8	11	16	3	0	1	0	0	0	1	3	1	3	1	5	2	2	4	5	2	0	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:53377301G>A	ENST00000536120.1	-	6	893	c.76C>T	c.(76-78)Cgg>Tgg	p.R26W	ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_Missense_Mutation_p.R26W|ECHDC2_ENST00000358358.5_Missense_Mutation_p.R72W|ECHDC2_ENST00000371522.4_Missense_Mutation_p.R72W			Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	72					fatty acid metabolic process	mitochondrion	lyase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						CGGTCCTCCCGCAGCTGGGCC	0.612													A	53377301	G	A	53377301	3	1	721	1	0	0	0	0	1	0	0	0	4933	1086	38	1	599	1	ECHDC2	1	53377301	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	7082126	53377301	195873320	2	55182											
TGFBR3	7049	broad.mit.edu	37	chr1	92181894	92181894	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catgttgaaggtgatgtttcCgtggggctgttcctggaagc	6	13	15	7	1	0	2	0	2	0	0	2	3	2	3	2	4	1	4	2	4	2	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:92181894C>T	ENST00000212355.4	-	12	2230	c.1765G>A	c.(1765-1767)Gga>Aga	p.G589R	TGFBR3_ENST00000525962.1_Missense_Mutation_p.G589R|TGFBR3_ENST00000370399.2_Missense_Mutation_p.G588R	NM_001195683.1|NM_003243.4	NP_001182612.1|NP_003234.2	Q03167	TGBR3_HUMAN	transforming growth factor, beta receptor III	589	ZP.				BMP signaling pathway|cardiac epithelial to mesenchymal transition|cardiac muscle cell proliferation|cell growth|cell migration|definitive erythrocyte differentiation|heart trabecula formation|immune response|intracellular protein kinase cascade|liver development|negative regulation of cellular component movement|negative regulation of epithelial cell proliferation|palate development|pathway-restricted SMAD protein phosphorylation|response to follicle-stimulating hormone stimulus|response to luteinizing hormone stimulus|response to prostaglandin E stimulus|transforming growth factor beta receptor signaling pathway|ventricular cardiac muscle tissue morphogenesis	external side of plasma membrane|extracellular space|inhibin-betaglycan-ActRII complex|integral to plasma membrane|intracellular membrane-bounded organelle	coreceptor activity|heparin binding|PDZ domain binding|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity, type III|type II transforming growth factor beta receptor binding			endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(24)|ovary(3)|prostate(4)|skin(1)|stomach(1)|urinary_tract(3)	55		all_lung(203;0.00719)|Lung NSC(277;0.0268)		all cancers(265;0.0108)|Epithelial(280;0.0825)		GTGATGTTTCCGTGGGGCTGT	0.483													T	92181894	C	T	92181894	3	4	721	1	0	0	0	0	1	0	0	0	15923	661	23	1	814	1	TGFBR3	1	92181894	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	38804593	92181894	157068727	3	55183											
HIST2H3D	653604	broad.mit.edu	37	chr1	149784871	149784871	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgggccaactggatgtccttGggcatgatggtcacgcgctt	6	10	14	11	3	1	1	1	1	0	0	2	2	2	2	2	4	1	2	2	4	1	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:149784871G>C	ENST00000331491.1	-	1	365	c.366C>G	c.(364-366)ccC>ccG	p.P122P		NM_001123375.2	NP_001116847.1	Q71DI3	H32_HUMAN	histone cluster 2, H3d	122					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding|protein binding			biliary_tract(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(3)	7						GGATGTCCTTGGGCATGATGG	0.602													C	149784871	G	C	149784871	2	2	721	1	0	0	0	0	0	0	0	1	7236	1335	47	4		4	HIST2H3D	1	149784871	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	57602977	149784871	99465750	4	55184											
TBX19	9095	broad.mit.edu	37	chr1	168282171	168282171	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctggacagcagtggcctcGcatcccttcgcgggctgggg	5	7	15	14	3	0	0	0	0	0	0	3	1	1	1	3	5	1	3	3	5	0	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:168282171G>A	ENST00000367821.3	+	8	1329	c.1278G>A	c.(1276-1278)tcG>tcA	p.S426S	TBX19_ENST00000465440.1_3'UTR	NM_005149.2	NP_005140.1	O60806	TBX19_HUMAN	T-box 19	426					anatomical structure morphogenesis	nucleus	DNA binding			NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|liver(1)|lung(11)|prostate(2)|skin(2)|urinary_tract(1)	34	all_hematologic(923;0.215)					CAGTGGCCTCGCATCCCTTCG	0.627													A	168282171	G	A	168282171	2	1	721	1	0	0	0	0	0	0	0	1	15754	1074	38	1		1	TBX19	1	168282171	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	18497300	168282171	80968450	5	55185											
PTPRC	5788	broad.mit.edu	37	chr1	198711064	198711064	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccagctggccagaccacgggGtgcctgaggatcctcacttg	7	7	13	14	1	1	2	1	1	0	1	2	3	2	3	5	4	2	1	5	4	0	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr1:198711064G>C	ENST00000367376.2	+	24	2635	c.2464G>C	c.(2464-2466)Gtg>Ctg	p.V822L	PTPRC_ENST00000348564.6_Missense_Mutation_p.V663L|PTPRC_ENST00000594404.1_Missense_Mutation_p.V661L|PTPRC_ENST00000442510.2_Missense_Mutation_p.V824L|PTPRC_ENST00000352140.3_Missense_Mutation_p.V774L	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	822	Tyrosine-protein phosphatase 1.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGACCACGGGGTGCCTGAGGA	0.453													C	198711064	G	C	198711064	3	2	721	1	0	0	0	0	1	0	0	0	12885	1261	44	4	2565	4	PTPRC	1	198711064	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	30428893	198711064	50539557	6	55186											
NPHP1	4867	broad.mit.edu	37	chr2	110904384	110904384	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttaagaaacacccagccaCagcttaactctcctctttca	12	11	4	14	0	3	1	1	0	2	1	4	1	3	1	3	0	4	2	3	0	3	4			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:110904384C>T	ENST00000316534.4	-	14	1539	c.1466G>A	c.(1465-1467)tGt>tAt	p.C489Y	NPHP1_ENST00000445609.2_Missense_Mutation_p.C433Y|NPHP1_ENST00000355301.4_Missense_Mutation_p.C370Y|NPHP1_ENST00000417665.1_Missense_Mutation_p.C432Y|NPHP1_ENST00000393272.3_Missense_Mutation_p.C488Y			O15259	NPHP1_HUMAN	nephronophthisis 1 (juvenile)	488					actin cytoskeleton organization|cell projection organization|cell-cell adhesion|excretion|retina development in camera-type eye|signal transduction|spermatid differentiation|visual behavior	adherens junction|cell-cell junction|cilium axoneme|cytoplasm|cytoskeleton|motile cilium|photoreceptor connecting cilium	protein binding|structural molecule activity			autonomic_ganglia(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(2)	24						CACCCAGCCACAGCTTAACTC	0.358													T	110904384	C	T	110904384	3	4	721	1	0	0	0	0	1	0	0	0	10655	478	17	2	763	2	NPHP1	2	110904384	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		110904384	132294989	7	55187											
TTN	7273	broad.mit.edu	37	chr2	179394741	179394741	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccagctgaattttttactgTacaagtataaagtccactgt	12	15	6	8	0	0	1	0	1	0	0	2	1	2	1	2	0	3	3	2	0	7	6			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:179394741T>A	ENST00000589042.1	-	359	106701	c.106477A>T	c.(106477-106479)Aca>Tca	p.T35493S	TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.T26553S|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.T33852S|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.T26428S|TTN_ENST00000342175.6_Missense_Mutation_p.T26620S|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.T32925S|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	33852							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTTTTACTGTACAAGTATAA	0.348													A	179394741	T	A	179394741	3	1	721	1	0	0	0	0	1	0	0	0	16837	1638	57	5	1518	5	TTN	2	179394741	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	68490357	179394741	63804632	8	55188											
STK11IP	114790	broad.mit.edu	37	chr2	220473305	220473305	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcttggtctctccacagCggaactctgtcgccccttgt	4	14	8	15	2	3	0	0	0	3	0	7	1	4	1	3	2	2	0	3	2	1	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr2:220473305C>T	ENST00000456909.1	+	15	1694	c.1604C>T	c.(1603-1605)gCg>gTg	p.A535V	STK11IP_ENST00000295641.10_Splice_Site_p.A546V			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	546	Glu-rich.				protein localization	cytoplasm	protein kinase binding			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCTCCACAGCGGAACTCTGT	0.632													T	220473305	C	T	220473305	5	4	721	1	0	0	0	0	0	0	1	0	15384	782	27	1	1695	1	STK11IP	2	220473305	Splice_Site	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	41078564	220473305	22726068	9	55189											
MAGI1	9223	broad.mit.edu	37	chr3	65342560	65342560	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggcgcccggtccttgggtcgGcatgccccgctgtcgggttt	1	10	16	14	5	0	0	0	0	0	0	3	0	1	0	4	5	1	3	4	5	0	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:65342560G>A	ENST00000402939.2	-	23	3881	c.3882C>T	c.(3880-3882)tgC>tgT	p.C1294C	MAGI1_ENST00000330909.8_3'UTR	NM_001033057.1	NP_001028229.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	1323					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.C1294C(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		CCTTGGGTCGGCATGCCCCGC	0.672													A	65342560	G	A	65342560	2	1	721	1	0	0	0	0	0	0	0	1	9265	1195	42	2		2	MAGI1	3	65342560	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		65342560	132679870	10	55190											
RPL24	6152	broad.mit.edu	37	chr3	101401316	101401316	+	Frame_Shift_Del	DEL	T	T	-																															ttttagatgcttgcttagccTtttttgcttccttagcagcc																										TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:101401316delT	ENST00000469605.1	-	5	368	c.350delA	c.(349-351)aagfs	p.K117fs	RPL24_ENST00000495401.1_Intron|RPL24_ENST00000394077.3_Frame_Shift_Del_p.K117fs			P83731	RL24_HUMAN	ribosomal protein L24	117					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit	protein binding|RNA binding|structural constituent of ribosome			large_intestine(1)|lung(2)|urinary_tract(1)	4						TTGCTTAGCCTTTTTTGCTTC	0.368													-	101401316	T	-	101401316	7	5	721	1	0	1	0	1	0	0	0	0	13663	1609	56	0	131	0	RPL24	3	101401316	Frame_Shift_Del	DEL	T	TCGA-S9-A7IX-01A-12D-A34A-08	36058756	101401316	96621114	11	55191											
MYLK	4638	broad.mit.edu	37	chr3	123359181	123359181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagcttgatcctggtgcccGtcttgttgacacacatgatg	7	13	11	10	1	1	4	0	4	1	0	2	4	2	4	2	1	2	2	2	1	0	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr3:123359181G>A	ENST00000360772.3	-	29	5168	c.4790C>T	c.(4789-4791)aCg>aTg	p.T1597M	MYLK_ENST00000360304.3_Missense_Mutation_p.T1597M|MYLK_ENST00000346322.5_Missense_Mutation_p.T1528M|MYLK_ENST00000475616.1_Missense_Mutation_p.T1597M|MYLK_ENST00000359169.1_Missense_Mutation_p.T1597M|MYLK-AS1_ENST00000485162.1_RNA|MYLK_ENST00000354792.5_Missense_Mutation_p.T397M			Q15746	MYLK_HUMAN	myosin light chain kinase	1597	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		CCTGGTGCCCGTCTTGTTGAC	0.562													A	123359181	G	A	123359181	3	1	721	1	0	0	0	0	1	0	0	0	10132	1145	40	1	982	1	MYLK	3	123359181	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	21957865	123359181	74663249	12	55192											
UGT2B4	7363	broad.mit.edu	37	chr4	70346534	70346534	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgcttggctcctttatggcGcatgacaaattcaatccaga	10	12	9	10	1	1	2	1	1	0	1	3	2	3	2	2	2	1	3	2	2	3	4			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr4:70346534G>A	ENST00000305107.6	-	6	1451	c.1405C>T	c.(1405-1407)Cgc>Tgc	p.R469C	UGT2B4_ENST00000381096.3_Missense_Mutation_p.R333C|UGT2B4_ENST00000506580.1_5'UTR|UGT2B4_ENST00000512583.1_3'UTR	NM_021139.2	NP_066962.2	P06133	UD2B4_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B4	469					estrogen catabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(29)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	47						CCTTTATGGCGCATGACAAAT	0.478													A	70346534	G	A	70346534	3	1	721	1	0	0	0	0	1	0	0	0	17063	1087	38	1	185	1	UGT2B4	4	70346534	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		70346534	120807742	13	55193											
PCDHB3	56132	broad.mit.edu	37	chr5	140482266	140482266	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcccggaggcggcacCggcccaggcccaggccgact	5	3	14	19	4	1	0	0	0	1	0	2	2	1	1	6	6	0	1	6	6	0	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr5:140482266C>T	ENST00000231130.2	+	1	2033	c.2033C>T	c.(2032-2034)cCg>cTg	p.P678L		NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN		678					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGCGGCACCGGCCCAGGCC	0.672													T	140482266	C	T	140482266	3	4	721	1	0	0	0	0	1	0	0	0	11619	652	23	1	2035	1	PCDHB3	5	140482266	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		140482266	40432994	14	55194											
GRM4	2914	broad.mit.edu	37	chr6	34059820	34059820	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacgcgggagaagaagtcGtagcggctgttgtcactcag	10	7	14	10	4	2	2	2	0	0	2	3	3	2	2	1	2	1	3	1	2	3	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:34059820G>A	ENST00000538487.2	-	3	1019	c.576C>T	c.(574-576)taC>taT	p.Y192Y	GRM4_ENST00000535756.1_Silent_p.Y59Y|GRM4_ENST00000609222.1_Silent_p.Y59Y|GRM4_ENST00000374181.4_Silent_p.Y192Y|GRM4_ENST00000544773.2_Silent_p.Y23Y|GRM4_ENST00000374177.3_Silent_p.Y123Y|GRM4_ENST00000455714.2_Silent_p.Y52Y	NM_000841.2|NM_001256811.1	NP_000832.1|NP_001243740.1	Q14833	GRM4_HUMAN	glutamate receptor, metabotropic 4						activation of MAPK activity|inhibition of adenylate cyclase activity by metabotropic glutamate receptor signaling pathway|neuroprotection|neurotransmitter secretion|positive regulation of MAPKKK cascade	cytoplasmic vesicle|integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(9)|liver(1)|lung(19)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48					L-Glutamic Acid(DB00142)	AGAAGAAGTCGTAGCGGCTGT	0.637													A	34059820	G	A	34059820	2	1	721	1	0	0	0	0	0	0	0	1	6854	1140	40	1		1	GRM4	6	34059820	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		34059820	137055247	15	55195											
MED23	9439	broad.mit.edu	37	chr6	131923454	131923454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgggatcactaaggaagcGtgtaaactgcggttgtacct	10	12	12	7	2	1	0	1	0	0	0	1	2	1	2	1	3	4	3	1	3	5	5			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:131923454G>A	ENST00000403834.3	-	17	2190	c.2017C>T	c.(2017-2019)Cgc>Tgc	p.R673C	MED23_ENST00000354577.4_Missense_Mutation_p.R673C|MED23_ENST00000539158.1_3'UTR|MED23_ENST00000368068.3_Missense_Mutation_p.R667C|MED23_ENST00000368053.4_Missense_Mutation_p.R673C|MED23_ENST00000368058.1_Missense_Mutation_p.R673C|MED23_ENST00000368060.3_Missense_Mutation_p.R667C|MED23_ENST00000540546.1_Missense_Mutation_p.R673C|MED23_ENST00000545957.1_Missense_Mutation_p.R308C			Q9ULK4	MED23_HUMAN	mediator complex subunit 23	667					regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	transcription factor complex	protein binding|transcription coactivator activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(12)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	44	Breast(56;0.0753)			GBM - Glioblastoma multiforme(226;0.0115)|OV - Ovarian serous cystadenocarcinoma(155;0.0608)		CTAAGGAAGCGTGTAAACTGC	0.433													A	131923454	G	A	131923454	3	1	721	1	0	0	0	0	1	0	0	0	9516	1145	40	1	2166	1	MED23	6	131923454	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	97863634	131923454	39191613	16	55196											
SAMD5	389432	broad.mit.edu	37	chr6	148018465	148018465	+	RNA	DEL	A	A	-																															cttgaatagttttgttctctAaacccagtttggccgccttg																										TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr6:148018465delA	ENST00000427015.1	+	0	117																											TTTGTTCTCTAAACCCAGTTT	0.388													-	148018465	A	-	148018465	6	5	721	0	1	1	0	1	0	0	0	0	13914	377	13	0		0	SAMD5	6	148018465	RNA	DEL	A	TCGA-S9-A7IX-01A-12D-A34A-08	16095011	148018465	23096602	17	55197											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55210075	T	G	55210075	3	3	721	1	0	0	0	0	1	0	0	0	5006	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08		55210075	103928588	18	55198											
FLNC	2318	broad.mit.edu	37	chr7	128470957	128470957	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccgcaagttccatccgcGccccaacttccgccaaatga	10	7	7	17	4	0	1	0	1	0	0	3	1	3	1	7	0	2	3	7	0	4	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr7:128470957G>A	ENST00000325888.8	+	1	527	c.266G>A	c.(265-267)cGc>cAc	p.R89H	FLNC_ENST00000346177.6_Missense_Mutation_p.R89H	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	89	Actin-binding.|CH 1.				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCCATCCGCGCCCCAACTTC	0.652													A	128470957	G	A	128470957	3	1	721	1	0	0	0	0	1	0	0	0	5984	1087	38	1	268	1	FLNC	7	128470957	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	73260882	128470957	30667706	19	55199											
BNC2	54796	broad.mit.edu	37	chr9	16727916	16727916	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtcagtacaggagtctcttAaagtcaagtctcttgccctc	9	13	8	11	0	4	0	2	0	2	0	7	1	4	1	1	1	2	1	1	1	4	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr9:16727916A>C	ENST00000380672.4	-	3	266	c.209T>G	c.(208-210)tTa>tGa	p.L70*	BNC2_ENST00000545497.1_Intron|BNC2_ENST00000380667.2_Intron|BNC2_ENST00000380666.2_Nonsense_Mutation_p.L70*	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	70					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		GGAGTCTCTTAAAGTCAAGtc	0.483													C	16727916	A	C	16727916	4	2	721	1	0	0	0	0	0	1	0	0	1481	372	13	5	3110	5	BNC2	9	16727916	Nonsense_Mutation	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08		16727916	124485515	20	55200											
MYOF	26509	broad.mit.edu	37	chr10	95072807	95072807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgggcgccatctttctctgcGtagcatggccaccatccttt	5	12	9	15	3	2	0	0	0	2	0	4	0	3	0	4	2	2	2	4	2	1	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:95072807G>A	ENST00000371501.4	-	51	5981	c.5859C>T	c.(5857-5859)taC>taT	p.Y1953Y	MYOF_ENST00000358334.5_Silent_p.Y1940Y|MYOF_ENST00000359263.4_Silent_p.Y1953Y|MYOF_ENST00000371502.4_Silent_p.Y1943Y			Q9NZM1	MYOF_HUMAN	myoferlin	1953					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						CTTTCTCTGCGTAGCATGGCC	0.473													A	95072807	G	A	95072807	2	1	721	1	0	0	0	0	0	0	0	1	10165	1140	40	1		1	MYOF	10	95072807	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		95072807	40461940	21	55201											
TLL2	7093	broad.mit.edu	37	chr10	98129890	98129890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcgtaggcttccatgtagtCgtagccgcagtcggcctcct	5	11	12	13	4	0	0	0	0	0	0	5	0	2	0	4	2	1	5	4	2	3	4			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr10:98129890C>T	ENST00000357947.3	-	20	3070	c.2845G>A	c.(2845-2847)Gac>Aac	p.D949N		NM_012465.3	NP_036597.1	Q9Y6L7	TLL2_HUMAN	tolloid-like 2	949	CUB 5.				cell differentiation|multicellular organismal development|proteolysis	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(15)|lung(22)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	58		Colorectal(252;0.0846)		Epithelial(162;1.51e-07)|all cancers(201;7.59e-06)		TCCATGTAGTCGTAGCCGCAG	0.662													T	98129890	C	T	98129890	3	4	721	1	0	0	0	0	1	0	0	0	16046	884	31	1	210	1	TLL2	10	98129890	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	3057083	98129890	37404857	22	55202											
OR4D9	390199	broad.mit.edu	37	chr11	59282742	59282742	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttctctctctgtgatggcGtttgaccgctatatagccat	6	17	8	10	2	2	2	0	2	2	0	4	2	2	2	2	1	1	2	2	1	3	6			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr11:59282742G>A	ENST00000329328.3	+	1	357	c.357G>A	c.(355-357)gcG>gcA	p.A119A		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	119					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						CTGTGATGGCGTTTGACCGCT	0.522													A	59282742	G	A	59282742	2	1	721	1	0	0	0	0	0	0	0	1	11135	1132	40	1		1	OR4D9	11	59282742	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		59282742	75723774	23	55203											
CLEC12A	160364	broad.mit.edu	37	chr12	10131592	10131592	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccctctcatgtatggcGtccagcagccttgtttctga	6	13	9	13	1	2	1	1	1	2	0	5	1	4	1	3	1	3	4	3	1	1	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10131592G>A	ENST00000304361.4	+	2	301	c.119G>A	c.(118-120)cGt>cAt	p.R40H	CLEC12A_ENST00000355690.4_Missense_Mutation_p.R50H|CLEC12A_ENST00000434319.2_Missense_Mutation_p.R40H|CLEC12A_ENST00000350667.4_Intron	NM_138337.5|NM_201623.3	NP_612210.4|NP_963917.2	Q5QGZ9	CL12A_HUMAN	C-type lectin domain family 12, member A	40						integral to membrane|plasma membrane	receptor activity|sugar binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	16						CATGTATGGCGTCCAGCAGCC	0.438													A	10131592	G	A	10131592	3	1	721	1	0	0	0	0	1	0	0	0	3528	1145	40	1	125	1	CLEC12A	12	10131592	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		10131592	123720303	24	55204											
TAS2R9	50835	broad.mit.edu	37	chr12	10962396	10962396	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtaaaccagagacttgaattAttggcaaatgtccagacaac	16	9	8	8	0	0	3	0	1	0	2	1	4	1	3	2	1	2	2	2	1	6	4			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:10962396A>G	ENST00000240691.2	-	1	371	c.279T>C	c.(277-279)aaT>aaC	p.N93N		NM_023917.2	NP_076406.1	Q9NYW1	TA2R9_HUMAN	taste receptor, type 2, member 9	93					sensory perception of taste	integral to membrane	taste receptor activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						GACTTGAATTATTGGCAAATG	0.383													G	10962396	A	G	10962396	2	3	721	1	0	0	0	0	0	0	0	1	15685	446	16	3		3	TAS2R9	12	10962396	Silent	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08	830804	10962396	122889499	25	55205											
KRT79	338785	broad.mit.edu	37	chr12	53227629	53227629	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgctcccgctcctgagtgCgcactcgctggatctcgggg	3	10	13	15	4	2	1	0	1	2	0	6	2	4	2	2	3	2	4	2	3	0	0	rs140416696	byFrequency	TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:53227629C>G	ENST00000330553.5	-	1	450	c.416G>C	c.(415-417)cGc>cCc	p.R139P		NM_175834.2	NP_787028.1	Q5XKE5	K2C79_HUMAN	keratin 79	139	Head.					keratin filament	structural molecule activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CTCCTGAGTGCGCACTCGCTG	0.607													G	53227629	C	G	53227629	3	3	721	1	0	0	0	0	1	0	0	0	8550	768	27	4	1227	4	KRT79	12	53227629	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	42265233	53227629	80624266	26	55206											
ANAPC5	51433	broad.mit.edu	37	chr12	121766164	121766164	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttttctgtgcgatgctgAtatcgatgagctctgacagg	7	13	12	9	3	2	3	0	3	2	0	3	5	2	3	1	1	3	3	1	1	1	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr12:121766164A>G	ENST00000261819.3	-	10	1380	c.1259T>C	c.(1258-1260)aTc>aCc	p.I420T	ANAPC5_ENST00000535482.1_Missense_Mutation_p.I86T|ANAPC5_ENST00000541887.1_Missense_Mutation_p.I407T|ANAPC5_ENST00000544314.1_5'UTR|ANAPC5_ENST00000344395.4_Missense_Mutation_p.I308T|ANAPC5_ENST00000441917.2_Missense_Mutation_p.I308T	NM_016237.4	NP_057321.2	Q9UJX4	APC5_HUMAN	anaphase promoting complex subunit 5	420					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G2/M transition of mitotic cell cycle|mitotic anaphase|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	protein phosphatase binding|ubiquitin-protein ligase activity			breast(6)|endometrium(3)|kidney(3)|large_intestine(5)|lung(10)|prostate(1)|skin(3)	31	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					TGCGATGCTGATATCGATGAG	0.547													G	121766164	A	G	121766164	3	3	721	1	0	0	0	0	1	0	0	0	605	333	12	3	1040	3	ANAPC5	12	121766164	Missense_Mutation	SNP	A	TCGA-S9-A7IX-01A-12D-A34A-08	68538535	121766164	12085731	27	55207											
BRCA2	675	broad.mit.edu	37	chr13	32914649	32914649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catataatgtggtaaattcaTctgctttctctggatttagt	10	18	7	6	0	3	0	1	0	2	0	4	1	3	1	0	2	1	2	0	2	5	7			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:32914649T>C	ENST00000544455.1	+	11	6384	c.6157T>C	c.(6157-6159)Tct>Cct	p.S2053P	BRCA2_ENST00000380152.3_Missense_Mutation_p.S2053P	NM_000059.3	NP_000050	P51587	BRCA2_HUMAN	breast cancer 2, early onset	2053					cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GGTAAATTCATCTGCTTTCTC	0.348			"D, Mis, N, F, S"		"breast, ovarian, pancreatic"	"breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			C	32914649	T	C	32914649	3	2	721	1	0	0	0	0	1	0	0	0	1508	1435	50	3	6195	3	BRCA2	13	32914649	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08		32914649	82255229	28	55208											
TRPC4	7223	broad.mit.edu	37	chr13	38225434	38225434	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaactttctggctttcttcTcatctttttcttgcacaagt	8	19	4	10	0	5	0	1	0	5	0	6	0	5	0	0	1	2	2	0	1	3	6			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr13:38225434T>A	ENST00000379705.3	-	8	2904	c.2047A>T	c.(2047-2049)Aga>Tga	p.R683*	TRPC4_ENST00000338947.5_Nonsense_Mutation_p.R510*|TRPC4_ENST00000379679.1_Nonsense_Mutation_p.R510*|TRPC4_ENST00000355779.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379673.2_Intron|TRPC4_ENST00000447043.1_Nonsense_Mutation_p.R683*|TRPC4_ENST00000379681.3_Nonsense_Mutation_p.R683*|TRPC4_ENST00000358477.2_Nonsense_Mutation_p.R683*|TRPC4_ENST00000426868.2_3'UTR			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	683	Binds to ITPR1, ITPR2 and ITPR3.				axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		GGCTTTCTTCTCATCTTTTTC	0.383													A	38225434	T	A	38225434	4	1	721	1	0	0	0	0	0	1	0	0	16681	1559	54	5	917	5	TRPC4	13	38225434	Nonsense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	5310785	38225434	76944444	29	55209											
PGBD4	161779	broad.mit.edu	37	chr15	34394773	34394773	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tagcattcctatgcgtgataGtaataccggtctcgaacagt	11	12	9	9	3	1	1	0	1	1	0	3	2	2	1	2	1	4	2	2	1	6	6			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:34394773G>A	ENST00000397766.2	+	1	500	c.41G>A	c.(40-42)aGt>aAt	p.S14N		NM_152595.4	NP_689808.2	Q96DM1	PGBD4_HUMAN	piggyBac transposable element derived 4	14										breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(5)|pancreas(1)|prostate(1)	16		all_lung(180;1.76e-08)		all cancers(64;1.22e-17)|GBM - Glioblastoma multiforme(113;1.78e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0242)		atgcgtgatagtaataccggt	0.348													A	34394773	G	A	34394773	3	1	721	1	0	0	0	0	1	0	0	0	11860	1029	36	2	43	2	PGBD4	15	34394773	Missense_Mutation	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08		34394773	68136619	30	55210											
CSPG4	1464	broad.mit.edu	37	chr15	75979718	75979718	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgggccctctagggcaaTggtcacttgtagggtggcat	7	10	15	9	0	2	0	1	0	1	0	2	0	2	0	1	5	0	3	1	5	3	3			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:75979718T>C	ENST00000308508.5	-	3	3780	c.3688A>G	c.(3688-3690)Att>Gtt	p.I1230V		NM_001897.4	NP_001888.2	Q6UVK1	CSPG4_HUMAN	chondroitin sulfate proteoglycan 4	1230	Gly/Ser-rich (glycosaminoglycan attachment domain).|Interaction with COL5A1 (By similarity).				angiogenesis|cell differentiation|intracellular signal transduction|positive regulation of peptidyl-tyrosine phosphorylation|tissue remodeling	apical plasma membrane|cell surface|integral to plasma membrane|intracellular|lamellipodium membrane	protein kinase binding|signal transducer activity			breast(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(3)|liver(2)|lung(18)|ovary(2)|pancreas(2)|prostate(4)|skin(4)	48						TCTAGGGCAATGGTCACTTGT	0.607													C	75979718	T	C	75979718	3	2	721	1	0	0	0	0	1	0	0	0	3993	1464	51	3	3312	3	CSPG4	15	75979718	Missense_Mutation	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	41584945	75979718	26551674	31	55211											
IGF1R	3480	broad.mit.edu	37	chr15	99192881	99192881	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtttctctccgccgcgctctCgctctggccgacgagtggag	3	10	13	15	6	3	0	0	0	3	0	6	3	4	1	3	2	0	3	3	2	0	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr15:99192881C>T	ENST00000268035.6	+	1	682	c.71C>T	c.(70-72)tCg>tTg	p.S24L	IGF1R_ENST00000558762.1_Missense_Mutation_p.S24L	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	24					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	GCCGCGCTCTCGCTCTGGCCG	0.622													T	99192881	C	T	99192881	3	4	721	1	0	0	0	0	1	0	0	0	7629	893	31	1	73	1	IGF1R	15	99192881	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08	23213163	99192881	3338511	32	55212											
SEC14L5	9717	broad.mit.edu	37	chr16	5055945	5055945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatcaatgagaacaccaggCggaagttcctcatctacagt	13	9	8	11	1	4	1	3	1	1	1	5	3	5	2	2	2	2	1	2	2	4	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr16:5055945C>T	ENST00000251170.7	+	12	1513	c.1333C>T	c.(1333-1335)Cgg>Tgg	p.R445W		NM_014692.1	NP_055507.1	O43304	S14L5_HUMAN	SEC14-like 5 (S. cerevisiae)	445	CRAL-TRIO.					integral to membrane|intracellular	transporter activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(9)|ovary(1)|skin(1)	29						GAACACCAGGCGGAAGTTCCT	0.483													T	5055945	C	T	5055945	3	4	721	1	0	0	0	0	1	0	0	0	14078	759	27	1	1375	1	SEC14L5	16	5055945	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		5055945	85298808	33	55213											
GIT1	28964	broad.mit.edu	37	chr17	27908355	27908355	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gggcatcaggtgggcactcaCctgtcagccatctgtgggat	7	9	14	11	0	4	0	3	0	1	0	4	1	4	1	2	4	1	2	2	4	0	0			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:27908355C>T	ENST00000225394.3	-	7	1010		c.e7+1		GIT1_ENST00000579937.1_Splice_Site|GIT1_ENST00000581348.1_Splice_Site|RP11-68I3.2_ENST00000581474.1_RNA|GIT1_ENST00000394869.3_Splice_Site	NM_014030.3	NP_054749.2	Q9Y2X7	GIT1_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 1						regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|focal adhesion	ARF GTPase activator activity|protein binding|zinc ion binding			large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				READ - Rectum adenocarcinoma(3;0.0419)|Colorectal(3;0.069)		TGGGCACTCACCTGTCAGCCA	0.552													T	27908355	C	T	27908355	5	4	721	1	0	0	0	0	0	0	1	0	6452	521	18	2	1610	2	GIT1	17	27908355	Splice_Site	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		27908355	53286855	34	55214											
NF1	4763	broad.mit.edu	37	chr17	29562708	29562710	+	In_Frame_Del	DEL	AAG	AAG	-																															gctctggaacatgttttctaAagaagtagaattggcagact																										TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:29562708_29562710delAAG	ENST00000358273.4	+	28	4171_4173	c.3788_3790delAAG	c.(3787-3792)aaagaa>aaa	p.E1264del	NF1_ENST00000356175.3_In_Frame_Del_p.E1264del	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1264	Ras-GAP.				actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.E1264K(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATGTTTTCTAAAGAAGTAGAATT	0.399			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29562710	AAG	-	29562708	7	5	721	1	0	1	0	1	0	0	0	0	10432	14	1	0	3959	0	NF1	17	29562708	In_Frame_Del	DEL	AAG	TCGA-S9-A7IX-01A-12D-A34A-08	1654353	29562708	51632502	35	55215											
KRTAP4-7	100132476	broad.mit.edu	37	chr17	39240560	39240560	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agctgctgtcagaccacctgTtgcaggaccacctgctaccg	8	8	10	15	1	1	1	1	0	0	1	1	2	1	2	5	1	5	5	5	1	1	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:39240560T>C	ENST00000391417.4	+	1	102	c.102T>C	c.(100-102)tgT>tgC	p.C34C		NM_033061.3	NP_149050.3			keratin associated protein 4-7									p.C34C(2)		NS(1)|endometrium(3)|kidney(1)|lung(1)|prostate(2)|urinary_tract(1)	9						AGACCACCTGTTGCAGGACCA	0.647													C	39240560	T	C	39240560	2	2	721	1	0	0	0	0	0	0	0	1	8614	1731	60	3		3	KRTAP4-7	17	39240560	Silent	SNP	T	TCGA-S9-A7IX-01A-12D-A34A-08	9677852	39240560	41954650	36	55216											
WNK4	65266	broad.mit.edu	37	chr17	40940794	40940794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatctggatggggacagcccGgaagagattgcagctgccat	10	7	15	9	1	1	1	0	0	1	1	1	6	1	4	2	4	4	2	2	4	1	1			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr17:40940794G>A	ENST00000246914.5	+	11	2157	c.2136G>A	c.(2134-2136)ccG>ccA	p.P712P		NM_032387.4	NP_115763.2	Q96J92	WNK4_HUMAN	WNK lysine deficient protein kinase 4	712					intracellular protein kinase cascade	tight junction	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(10)|ovary(3)|prostate(1)|skin(5)|stomach(1)	35		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		GGGACAGCCCGGAAGAGATTG	0.532													A	40940794	G	A	40940794	2	1	721	1	0	0	0	0	0	0	0	1	17482	1103	39	1		1	WNK4	17	40940794	Silent	SNP	G	TCGA-S9-A7IX-01A-12D-A34A-08	1700234	40940794	40254416	37	55217											
KCTD1	284252	broad.mit.edu	37	chr18	24039836	24039836	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccatctttccatctccaaCaacatgggctgaagctgaaa	12	11	6	12	0	2	2	0	2	2	0	5	2	4	2	3	1	3	2	3	1	4	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr18:24039836C>G	ENST00000417602.1	-	4	2186	c.2187G>C	c.(2185-2187)ttG>ttC	p.L729F	KCTD1_ENST00000579973.1_Missense_Mutation_p.L121F|KCTD1_ENST00000317932.7_Missense_Mutation_p.L121F|KCTD1_ENST00000408011.3_Missense_Mutation_p.L121F|KCTD1_ENST00000580059.1_Missense_Mutation_p.L121F	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	121					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			CCATCTCCAACAACATGGGCT	0.448													G	24039836	C	G	24039836	3	3	721	1	0	0	0	0	1	0	0	0	8154	477	17	4	418	4	KCTD1	18	24039836	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		24039836	54037412	38	55218											
FCGRT	2217	broad.mit.edu	37	chr19	50028814	50028816	+	In_Frame_Del	DEL	GAG	GAG	-																															gctctgttgtggagaaggatGaggagtgggctgccaggtgg																										TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chr19:50028814_50028816delGAG	ENST00000221466.5	+	6	1458_1460	c.972_974delGAG	c.(970-975)atgagg>atg	p.R325del	FCGRT_ENST00000426395.3_In_Frame_Del_p.R325del|FCGRT_ENST00000599988.1_In_Frame_Del_p.R59del|FCGRT_ENST00000596975.1_In_Frame_Del_p.R233del	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	325					antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		GGAGAAGGATGAGGAGTGGGCTG	0.616													-	50028816	GAG	-	50028814	7	5	721	1	0	1	0	1	0	0	0	0	5835	1290	45	0	990	0	FCGRT	19	50028814	In_Frame_Del	DEL	GAG	TCGA-S9-A7IX-01A-12D-A34A-08		50028814	9100169	39	55219											
KIAA2022	340533	broad.mit.edu	37	chrX	73964003	73964003	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccccattcagagctgacatgCctgcaggctccattatggca	9	9	9	14	0	1	2	1	1	0	1	2	2	2	2	4	2	3	4	4	2	1	2			TCGA-S9-A7IX-01A-12D-A34A-08	TCGA-S9-A7IX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7b2fa849-8bef-4071-b65b-311633bdb61d	9022575a-72fa-44e3-b975-10d3c60e6297	g.chrX:73964003C>A	ENST00000055682.6	-	3	1000	c.389G>T	c.(388-390)gGc>gTc	p.G130V		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022						base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						AGCTGACATGCCTGCAGGCTC	0.507													A	73964003	C	A	73964003	3	1	721	1	0	0	0	0	1	0	0	0	8327	739	26	4	4169	4	KIAA2022	23	73964003	Missense_Mutation	SNP	C	TCGA-S9-A7IX-01A-12D-A34A-08		73964003	81306557	40	55220											
KIAA0319L	79932	broad.mit.edu	37	chr1	35944787	35944787	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggtctgtggttaggggActggaaattgtaatcgcctt	8	13	14	6	1	2	0	1	0	1	0	3	2	2	2	1	5	0	2	1	5	3	4			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:35944787A>G	ENST00000325722.3	-	4	927	c.693T>C	c.(691-693)agT>agC	p.S231S		NM_024874.4	NP_079150.3	Q8IZA0	K319L_HUMAN	KIAA0319-like	231						cytoplasmic vesicle part|integral to membrane	protein binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(7)|lung(12)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|urinary_tract(1)	34		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0887)				TGGTTAGGGGACTGGAAATTG	0.408													G	35944787	A	G	35944787	2	3	722	1	0	0	0	0	0	0	0	1	8227	272	10	3		3	KIAA0319L	1	35944787	Silent	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		35944787	213305834	1	55221											
KCNQ4	9132	broad.mit.edu	37	chr1	41296926	41296926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctggagcttcaatgaccGcacccgcttccgggcatctc	7	8	11	15	3	2	1	1	1	1	0	4	3	3	2	3	2	2	5	3	2	1	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:41296926G>A	ENST00000347132.5	+	10	1545	c.1463G>A	c.(1462-1464)cGc>cAc	p.R488H	KCNQ4_ENST00000509682.2_Missense_Mutation_p.R434H|KCNQ4_ENST00000506017.1_3'UTR	NM_004700.3|NM_172163.2	NP_004691.2|NP_751895.1	P56696	KCNQ4_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 4	488					sensory perception of sound	basal plasma membrane|voltage-gated potassium channel complex				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(13)|skin(1)	26	Ovarian(52;0.00769)|all_hematologic(146;0.0977)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;1.38e-17)			TTCAATGACCGCACCCGCTTC	0.652													A	41296926	G	A	41296926	3	1	722	1	0	0	0	0	1	0	0	0	8143	1087	38	1	1501	1	KCNQ4	1	41296926	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	5352139	41296926	207953695	2	55222											
FUBP1	8880	broad.mit.edu	37	chr1	78430035	78430036	+	Frame_Shift_Ins	INS	-	-	G																															ccaacagcaaatcttggaatINSggggaccttatgtaaaaaag																										TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:78430035_78430036insG	ENST00000370767.1	-	11	930_931	c.843_844insC	c.(841-846)cccattfs	p.I282fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.I282fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.I303fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	282	KH 3.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AATCTTGGAATGGGGACCTTAT	0.342			"F, N"		oligodendroglioma								G	78430036	-	G	78430035	7	5	722	1	0	1	1	0	0	0	0	0	6144	1464	51	0	1130	0	FUBP1	1	78430035	Frame_Shift_Ins	INS	-	TCGA-S9-A7IY-01A-11D-A34A-08	37133109	78430035	170820586	3	55223											
OR2T35	403244	broad.mit.edu	37	chr1	248801975	248801976	+	Frame_Shift_Del	DEL	AT	AT	-																															caggcatacatcagggtctcAtagagtgacgtgtctgtgca																										TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr1:248801975_248801976delAT	ENST00000317450.3	-	1	583_584	c.584_585delAT	c.(583-585)tatfs	p.Y195fs		NM_001001827.1	NP_001001827.1	Q8NGX2	O2T35_HUMAN	olfactory receptor, family 2, subfamily T, member 35	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	6	all_cancers(71;2.04e-05)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			TCAGGGTCTCATAGAGTGACGT	0.5													-	248801976	AT	-	248801975	7	5	722	1	0	1	0	1	0	0	0	0	11102	224	8	0	390	0	OR2T35	1	248801975	Frame_Shift_Del	DEL	AT	TCGA-S9-A7IY-01A-11D-A34A-08	170371940	248801975	448646	4	55224											
IFIH1	64135	broad.mit.edu	37	chr2	163124706	163124706	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaggaaagttattagtgatgGgttattcttgtaatgcttgg	11	16	12	2	0	1	1	0	1	1	0	1	2	1	2	0	3	1	4	0	3	6	7			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:163124706G>T	ENST00000263642.2	-	14	3093	c.2698C>A	c.(2698-2700)Cca>Aca	p.P900T		NM_022168.3	NP_071451.2	Q9BYX4	IFIH1_HUMAN	interferon induced with helicase C domain 1	900					detection of virus|innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|positive regulation of interferon-alpha production|positive regulation of interferon-beta production|regulation of apoptosis	cytosol|nucleus	ATP binding|DNA binding|double-stranded RNA binding|helicase activity|protein binding|ribonucleoprotein binding|zinc ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(3)|urinary_tract(1)	39						ATTAGTGATGGGTTATTCTTG	0.363													T	163124706	G	T	163124706	3	4	722	1	0	0	0	0	1	0	0	0	7578	1232	43	4	391	4	IFIH1	2	163124706	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		163124706	80074667	5	55225											
DNAH7	56171	broad.mit.edu	37	chr2	196642630	196642630	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttagaatgctgcgcagcgtgCgccggtcccagtcatcggtc	6	9	13	13	5	1	1	1	0	0	1	4	1	2	1	2	2	4	2	2	2	2	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:196642630C>T	ENST00000312428.6	-	59	11058	c.10958G>A	c.(10957-10959)cGc>cAc	p.R3653H	DNAH7_ENST00000409063.1_Missense_Mutation_p.R136H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3653					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GCGCAGCGTGCGCCGGTCCCA	0.473													T	196642630	C	T	196642630	3	4	722	1	0	0	0	0	1	0	0	0	4645	768	27	1	1144	1	DNAH7	2	196642630	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	33517924	196642630	46556743	6	55226											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	722	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	12470482	209113112	34086261	7	55227											
GIGYF2	26058	broad.mit.edu	37	chr2	233712219	233712219	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accagcagcgtcagcagcagCagctgccacagcagcagcag	12	2	12	15	1	1	0	1	0	0	0	1	0	1	0	2	0	10	8	2	0	0	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:233712219C>T	ENST00000373566.3	+	28	3885	c.3688C>T	c.(3688-3690)Cag>Tag	p.Q1230*	GIGYF2_ENST00000409451.3_Nonsense_Mutation_p.Q1229*|GIGYF2_ENST00000409480.1_Nonsense_Mutation_p.Q1230*|GIGYF2_ENST00000409547.1_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000373563.4_Nonsense_Mutation_p.Q1208*|GIGYF2_ENST00000409196.3_Nonsense_Mutation_p.Q1202*			Q6Y7W6	PERQ2_HUMAN	GRB10 interacting GYF protein 2	1208	Gln-rich.				cell death		protein binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(17)|lung(11)|ovary(5)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	63		Breast(86;0.00279)|all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;7.37e-16)|BRCA - Breast invasive adenocarcinoma(100;0.000472)|LUSC - Lung squamous cell carcinoma(224;0.00902)|Lung(119;0.0118)|GBM - Glioblastoma multiforme(43;0.0145)		tcagcagcagcagctgccaca	0.572													T	233712219	C	T	233712219	4	4	722	1	0	0	0	0	0	1	0	0	6434	711	25	2	3790	2	GIGYF2	2	233712219	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	24599107	233712219	9487154	8	55228											
ING5	84289	broad.mit.edu	37	chr2	242650843	242650843	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctggcgcgctttgaagcaGatctgaaggacaagatggag	12	7	14	8	2	1	4	0	2	1	2	1	6	1	6	1	3	1	2	1	3	3	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr2:242650843G>T	ENST00000313552.6	+	4	354	c.328G>T	c.(328-330)Gat>Tat	p.D110Y	ING5_ENST00000406941.1_Missense_Mutation_p.D110Y|ING5_ENST00000482774.1_3'UTR	NM_032329.4	NP_115705.2	Q8WYH8	ING5_HUMAN	inhibitor of growth family, member 5	110					DNA replication|histone H3 acetylation|negative regulation of cell proliferation|negative regulation of growth|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	MOZ/MORF histone acetyltransferase complex	protein binding|zinc ion binding			large_intestine(1)|lung(1)|skin(1)	3		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;2.16e-33)|all cancers(36;4.99e-31)|OV - Ovarian serous cystadenocarcinoma(60;3.6e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.65e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0839)		CTTTGAAGCAGATCTGAAGGA	0.393													T	242650843	G	T	242650843	3	4	722	1	0	0	0	0	1	0	0	0	7797	942	33	4	342	4	ING5	2	242650843	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	8938624	242650843	548530	9	55229											
QARS	5859	broad.mit.edu	37	chr3	49141306	49141306	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagactcacagcctcctcaAtctgctctggggtcacaatg	11	9	8	13	0	5	1	3	0	2	1	6	1	6	1	2	2	2	1	2	2	3	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr3:49141306A>G	ENST00000306125.6	-	3	702	c.365T>C	c.(364-366)aTt>aCt	p.I122T	QARS_ENST00000414533.1_Missense_Mutation_p.I111T|QARS_ENST00000420147.2_Missense_Mutation_p.I140T			P47897	SYQ_HUMAN	glutaminyl-tRNA synthetase	122					glutaminyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|glutamine-tRNA ligase activity|protein binding			breast(1)|endometrium(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)	L-Glutamine(DB00130)	AGCCTCCTCAATCTGCTCTGG	0.592													G	49141306	A	G	49141306	3	3	722	1	0	0	0	0	1	0	0	0	12959	101	4	3	2050	3	QARS	3	49141306	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		49141306	148881124	10	55230											
MFSD10	10227	broad.mit.edu	37	chr4	2933825	2933825	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccgagaagcgcagcaggGccagggggctgagcagatca	11	2	17	11	2	1	3	1	1	0	2	1	4	1	3	2	3	4	4	2	3	1	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr4:2933825G>A	ENST00000329687.4	-	6	1283	c.749C>T	c.(748-750)gCc>gTc	p.A250V	MFSD10_ENST00000507555.1_Missense_Mutation_p.A250V|MFSD10_ENST00000514800.1_Missense_Mutation_p.A250V|MFSD10_ENST00000508221.1_Missense_Mutation_p.A250V|MFSD10_ENST00000355443.4_Missense_Mutation_p.A250V	NM_001120.4	NP_001111.3	Q14728	MFS10_HUMAN	major facilitator superfamily domain containing 10	250					apoptosis	integral to membrane	tetracycline transporter activity			breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)|skin(1)	7				UCEC - Uterine corpus endometrioid carcinoma (64;0.163)		GCGCAGCAGGGCCAGGGGGCT	0.672													A	2933825	G	A	2933825	3	1	722	1	0	0	0	0	1	0	0	0	9603	1203	42	2	646	2	MFSD10	4	2933825	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		2933825	188220451	11	55231											
NIPBL	25836	broad.mit.edu	37	chr5	37026330	37026330	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgaaatttctcttccttctaGaaattagtaaatgaaacatt	15	16	4	6	0	2	3	0	2	2	1	4	3	3	3	1	0	1	1	1	0	7	7			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:37026330G>A	ENST00000282516.8	+	31	6208		c.e31-1		NIPBL_ENST00000448238.2_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			CTTCCTTCTAGAAATTAGTAA	0.313													A	37026330	G	A	37026330	5	1	722	1	0	0	0	0	0	0	1	0	10504	956	33	2	5827	2	NIPBL	5	37026330	Splice_Site	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		37026330	143888930	12	55232											
PIK3R1	5295	broad.mit.edu	37	chr5	67591129	67591130	+	Frame_Shift_Del	DEL	AA	AA	-																															ccagaccttatccagctgagAaagacgagagaccaatactt																										TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:67591129_67591130delAA	ENST00000521381.1	+	13	2338_2339	c.1722_1723delAA	c.(1720-1725)agaaagfs	p.K575fs	PIK3R1_ENST00000320694.8_Frame_Shift_Del_p.K275fs|PIK3R1_ENST00000336483.5_Frame_Shift_Del_p.K305fs|PIK3R1_ENST00000274335.5_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000396611.1_Frame_Shift_Del_p.K575fs|PIK3R1_ENST00000523872.1_Frame_Shift_Del_p.K212fs|PIK3R1_ENST00000521657.1_Frame_Shift_Del_p.K575fs	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	575					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	p.R574_T576del(2)|p.R574fs*27(1)|p.L570_D578del(1)|p.0?(1)|p.?(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoproterenol(DB01064)	TCCAGCTGAGAAAGACGAGAGA	0.376			"Mis, F, O"		"gliobastoma, ovarian, colorectal"					TCGA GBM(4;<1E-08)			-	67591130	AA	-	67591129	7	5	722	1	0	1	0	1	0	0	0	0	11995	243	9	0	1898	0	PIK3R1	5	67591129	Frame_Shift_Del	DEL	AA	TCGA-S9-A7IY-01A-11D-A34A-08	30564799	67591129	113324131	13	55233											
SLC35A4	113829	broad.mit.edu	37	chr5	139947214	139947214	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgctgatggctgcgggaGcctgctatgcagcagggggc	5	8	18	10	1	0	1	0	1	0	0	0	2	0	2	1	4	7	6	1	4	1	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr5:139947214G>T	ENST00000514199.1	+	2	2146	c.460G>T	c.(460-462)Gcc>Tcc	p.A154S	APBB3_ENST00000507279.1_Intron|SLC35A4_ENST00000323146.3_Missense_Mutation_p.A154S			Q96G79	S35A4_HUMAN	solute carrier family 35, member A4	154	Leu-rich.					Golgi membrane|integral to membrane	sugar:hydrogen symporter activity			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGCTGCGGGAGCCTGCTATGC	0.637													T	139947214	G	T	139947214	3	4	722	1	0	0	0	0	1	0	0	0	14667	971	34	4	462	4	SLC35A4	5	139947214	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	72356085	139947214	40968046	14	55234											
ENPP1	5167	broad.mit.edu	37	chr6	132194118	132194118	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaaacatttcttacctaagcGtttgcactttgctaagagtg	11	14	8	8	1	1	1	0	0	1	1	1	2	1	1	1	0	5	3	1	0	4	6			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:132194118G>A	ENST00000360971.2	+	15	1513	c.1493G>A	c.(1492-1494)cGt>cAt	p.R498H		NM_006208.2	NP_006199.2	P22413	ENPP1_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 1	498	Phosphodiesterase.				3'-phosphoadenosine 5'-phosphosulfate metabolic process|biomineral tissue development|cellular phosphate ion homeostasis|cellular response to insulin stimulus|generation of precursor metabolites and energy|immune response|inorganic diphosphate transport|negative regulation of cell growth|negative regulation of fat cell differentiation|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of protein autophosphorylation|nucleoside triphosphate catabolic process|phosphate metabolic process|sequestering of triglyceride|water-soluble vitamin metabolic process	basolateral plasma membrane|cell surface|extracellular space|integral to membrane	ATP binding|insulin receptor binding|metal ion binding|nucleic acid binding|nucleoside-triphosphate diphosphatase activity|nucleotide diphosphatase activity|phosphodiesterase I activity|polysaccharide binding|protein homodimerization activity|scavenger receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(22)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	46	Breast(56;0.0505)			GBM - Glioblastoma multiforme(226;0.0216)|OV - Ovarian serous cystadenocarcinoma(155;0.022)	Amifostine(DB01143)|Ribavirin(DB00811)	TTACCTAAGCGTTTGCACTTT	0.408													A	132194118	G	A	132194118	3	1	722	1	0	0	0	0	1	0	0	0	5170	1145	40	1	1551	1	ENPP1	6	132194118	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		132194118	38920949	15	55235											
SYNE1	23345	broad.mit.edu	37	chr6	152690656	152690656	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcagatcatagaggcgatTgctgctttcatggaccatct	9	12	11	9	1	3	2	2	0	1	2	3	4	3	3	1	3	2	3	1	3	1	3			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr6:152690656T>C	ENST00000367255.5	-	60	10202	c.9601A>G	c.(9601-9603)Aat>Gat	p.N3201D	SYNE1_ENST00000341594.5_Missense_Mutation_p.N3240D|SYNE1_ENST00000265368.4_Missense_Mutation_p.N3201D|SYNE1_ENST00000423061.1_Missense_Mutation_p.N3208D|SYNE1_ENST00000448038.1_Missense_Mutation_p.N3208D	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	3201					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)		TAGAGGCGATTGCTGCTTTCA	0.512										HNSCC(10;0.0054)			C	152690656	T	C	152690656	3	2	722	1	0	0	0	0	1	0	0	0	15542	1812	63	3	17213	3	SYNE1	6	152690656	Missense_Mutation	SNP	T	TCGA-S9-A7IY-01A-11D-A34A-08	20496538	152690656	18424411	16	55236											
PDIA4	9601	broad.mit.edu	37	chr7	148709068	148709068	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atctccttggagggaggcccGgactgctcgatcatgtaatc	8	10	12	11	2	2	0	1	0	1	0	5	4	2	3	2	4	1	2	2	4	1	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr7:148709068G>A	ENST00000286091.4	-	6	1081	c.849C>T	c.(847-849)tcC>tcT	p.S283S		NM_004911.4	NP_004902.1	P13667	PDIA4_HUMAN	protein disulfide isomerase family A, member 4	283	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein secretion	endoplasmic reticulum lumen|melanosome	electron carrier activity|protein binding|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			large_intestine(6)|lung(15)|ovary(2)|prostate(1)	24	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00385)			AGGGAGGCCCGGACTGCTCGA	0.582													A	148709068	G	A	148709068	2	1	722	1	0	0	0	0	0	0	0	1	11746	1103	39	1		1	PDIA4	7	148709068	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		148709068	10429595	17	55237											
DNMBP	23268	broad.mit.edu	37	chr10	101715654	101715654	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagcccttgggcttgcggaCcaggcttcatctccaatctc	7	10	9	15	1	3	0	1	0	2	0	5	1	3	1	3	3	2	2	3	3	2	3			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:101715654C>A	ENST00000342239.3	-	4	1668	c.1577G>T	c.(1576-1578)gGt>gTt	p.G526V	DNMBP_ENST00000324109.4_Missense_Mutation_p.G526V|DNMBP-AS1_ENST00000434409.1_RNA			Q6XZF7	DNMBP_HUMAN	dynamin binding protein	526					intracellular signal transduction|regulation of Rho protein signal transduction	cell junction|cytoskeleton|Golgi stack|synapse	protein binding|Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(4)|endometrium(9)|large_intestine(14)|lung(19)|ovary(5)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	61		Colorectal(252;0.234)		Epithelial(162;2.94e-10)|all cancers(201;3.15e-08)		GGCTTGCGGACCAGGCTTCAT	0.498													A	101715654	C	A	101715654	3	1	722	1	0	0	0	0	1	0	0	0	4713	507	18	4	3212	4	DNMBP	10	101715654	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		101715654	33819093	18	55238											
FANK1	92565	broad.mit.edu	37	chr10	127693465	127693465	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgcagtctaatgctggcGtgctatgcgggacacctaga	8	11	13	9	2	1	1	0	0	1	1	1	2	1	2	1	2	4	4	1	2	3	4			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr10:127693465G>A	ENST00000368695.1	+	7	656	c.534G>A	c.(532-534)gcG>gcA	p.A178A	FANK1_ENST00000368693.1_Silent_p.A184A|FANK1_ENST00000477963.1_3'UTR	NM_145235.3	NP_660278.3	Q8TC84	FANK1_HUMAN	fibronectin type III and ankyrin repeat domains 1	184						cytoplasm|nucleus				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(10)|ovary(1)|urinary_tract(1)	21		all_lung(145;0.00752)|Lung NSC(174;0.0115)|Colorectal(57;0.0847)|all_neural(114;0.0936)				TAATGCTGGCGTGCTATGCGG	0.507													A	127693465	G	A	127693465	2	1	722	1	0	0	0	0	0	0	0	1	5721	1132	40	1		1	FANK1	10	127693465	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	25977811	127693465	7841282	19	55239											
CCND1	595	broad.mit.edu	37	chr11	69465934	69465934	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcgaagccctgctggagtcaAgcctgcgccaggcccagcag	8	5	13	15	2	1	0	1	0	0	0	2	2	1	1	4	2	5	2	4	2	2	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr11:69465934A>G	ENST00000227507.2	+	5	999	c.772A>G	c.(772-774)Agc>Ggc	p.S258G		NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	258					cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	GCTGGAGTCAAGCCTGCGCCA	0.667			T	"IGH@, FSTL3"	"CLL, B-ALL, breast"					Multiple Myeloma(6;0.086)			G	69465934	A	G	69465934	3	3	722	1	0	0	0	0	1	0	0	0	2946	72	3	3	790	3	CCND1	11	69465934	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		69465934	65540582	20	55240											
PRMT8	56341	broad.mit.edu	37	chr12	3701451	3701451	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtcttctacttggaagattAcctcactgtccggagggggg	7	11	13	10	2	3	1	1	0	2	1	4	3	4	3	2	5	2	0	2	5	3	4			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:3701451A>G	ENST00000382622.3	+	9	1424	c.1034A>G	c.(1033-1035)tAc>tGc	p.Y345C	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.Y336C	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	345					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			TTGGAAGATTACCTCACTGTC	0.532													G	3701451	A	G	3701451	3	3	722	1	0	0	0	0	1	0	0	0	12628	391	14	3	1068	3	PRMT8	12	3701451	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		3701451	130150444	21	55241											
MYO1H	283446	broad.mit.edu	37	chr12	109826586	109826586	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattttgtgctattggacgcGtacaccagcgaatctgcctt	8	13	10	10	3	1	0	0	0	1	0	1	3	1	1	2	1	4	2	2	1	3	6			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr12:109826586G>A	ENST00000310903.5	+	2	169	c.63G>A	c.(61-63)gcG>gcA	p.A21A	MYO1H_ENST00000431443.2_Silent_p.A21A			B4DNW6	B4DNW6_HUMAN	myosin IH	0						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TATTGGACGCGTACACCAGCG	0.532													A	109826586	G	A	109826586	2	1	722	1	0	0	0	0	0	0	0	1	10151	1132	40	1		1	MYO1H	12	109826586	Silent	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	106125135	109826586	24025309	22	55242											
ATP4B	496	broad.mit.edu	37	chr13	114312443	114312443	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggccacacgtcttcttcTcctgcagagccgccatcgtc	5	10	9	17	3	3	1	0	0	3	1	6	1	3	1	4	1	2	2	4	1	0	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr13:114312443T>A	ENST00000335288.4	-	1	58	c.17A>T	c.(16-18)gAg>gTg	p.E6V		NM_000705.3	NP_000696.1	P51164	ATP4B_HUMAN	ATPase, H+/K+ exchanging, beta polypeptide	6					ATP biosynthetic process	integral to membrane|plasma membrane	hydrogen:potassium-exchanging ATPase activity|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.171)		Rabeprazole(DB01129)	CGTCTTCTTCTCCTGCAGAGC	0.642													A	114312443	T	A	114312443	3	1	722	1	0	0	0	0	1	0	0	0	1151	1551	54	5	886	5	ATP4B	13	114312443	Missense_Mutation	SNP	T	TCGA-S9-A7IY-01A-11D-A34A-08		114312443	857435	23	55243											
CNOT1	23019	broad.mit.edu	37	chr16	58589321	58589322	+	Frame_Shift_Ins	INS	-	-	T																															caggctgttatatgtaactcINStttatcaggatactggggaa																										TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr16:58589321_58589322insT	ENST00000317147.5	-	21	3056_3057	c.2724_2725insA	c.(2722-2727)aaagagfs	p.E909fs	CNOT1_ENST00000569732.1_5'UTR|CNOT1_ENST00000569240.1_Frame_Shift_Ins_p.E904fs|CNOT1_ENST00000441024.2_Frame_Shift_Ins_p.E909fs	NM_001265612.1|NM_016284.4	NP_001252541.1|NP_057368.3	A5YKK6	CNOT1_HUMAN	CCR4-NOT transcription complex, subunit 1	909					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol				breast(1)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(24)|lung(25)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(2)	87				Kidney(780;0.0722)|OV - Ovarian serous cystadenocarcinoma(108;0.173)|Epithelial(162;0.239)		ATATGTAACTCTTTATCAGGAT	0.376													T	58589322	-	T	58589321	7	5	722	1	0	1	1	0	0	0	0	0	3648	922	32	0	4743	0	CNOT1	16	58589321	Frame_Shift_Ins	INS	-	TCGA-S9-A7IY-01A-11D-A34A-08		58589321	31765432	24	55244											
ADORA2B	136	broad.mit.edu	37	chr17	15878191	15878191	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctttgagaatgtggtcccCatgagctacatggtatattt	9	15	9	8	0	1	2	0	2	1	1	2	3	2	2	2	2	2	2	2	2	4	5			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:15878191C>G	ENST00000304222.2	+	2	866	c.534C>G	c.(532-534)ccC>ccG	p.P178P		NM_000676.2	NP_000667.1	P29275	AA2BR_HUMAN	adenosine A2b receptor	178	Agonist binding (By similarity).				activation of MAPK activity|cellular defense response|excretion|JNK cascade	integral to plasma membrane				breast(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)	9				UCEC - Uterine corpus endometrioid carcinoma (92;0.0855)	Defibrotide(DB04932)|Enprofylline(DB00824)|Pegademase bovine(DB00061)|Theophylline(DB00277)	ATGTGGTCCCCATGAGCTACA	0.478													G	15878191	C	G	15878191	2	3	722	1	0	0	0	0	0	0	0	1	328	581	21	4		4	ADORA2B	17	15878191	Silent	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		15878191	65317019	25	55245											
TUBD1	51174	broad.mit.edu	37	chr17	57968233	57968233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaatctttctttgcaagatGcttgatatgcctcattctct	9	17	6	9	0	4	3	1	1	3	2	5	3	4	3	1	0	3	2	1	0	3	5			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr17:57968233G>T	ENST00000325752.3	-	2	408	c.131C>A	c.(130-132)gCa>gAa	p.A44E	TUBD1_ENST00000340993.6_Missense_Mutation_p.A44E|TUBD1_ENST00000394239.3_Missense_Mutation_p.A44E|TUBD1_ENST00000346141.6_Missense_Mutation_p.A44E|TUBD1_ENST00000591611.1_5'UTR|TUBD1_ENST00000592426.1_Missense_Mutation_p.A44E|TUBD1_ENST00000376094.4_Missense_Mutation_p.A44E|TUBD1_ENST00000539018.1_Intron	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	44					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity			NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			TTTGCAAGATGCTTGATATGC	0.458													T	57968233	G	T	57968233	3	4	722	1	0	0	0	0	1	0	0	0	16864	1319	46	4	1262	4	TUBD1	17	57968233	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	42090042	57968233	23226977	26	55246											
EPB41L3	23136	broad.mit.edu	37	chr18	5410585	5410585	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagtggcagtggtctcccCgtcggctgcggtgtccgtgc	2	10	15	14	4	2	0	1	0	1	0	5	0	3	0	3	4	2	2	3	4	0	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr18:5410585C>T	ENST00000341928.2	-	14	2441	c.2101G>A	c.(2101-2103)Ggg>Agg	p.G701R	EPB41L3_ENST00000400111.3_Missense_Mutation_p.G532R|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.G701R|EPB41L3_ENST00000540638.2_Missense_Mutation_p.G532R|EPB41L3_ENST00000544123.1_Missense_Mutation_p.G532R|EPB41L3_ENST00000542146.1_5'UTR|EPB41L3_ENST00000427684.2_5'UTR	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	701	Spectrin--actin-binding (Potential).				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GTGGTCTCCCCGTCGGCTGCG	0.537													T	5410585	C	T	5410585	3	4	722	1	0	0	0	0	1	0	0	0	5195	652	23	1	1198	1	EPB41L3	18	5410585	Missense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		5410585	72666663	27	55247											
CDC34	997	broad.mit.edu	37	chr19	535886	535886	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atactctccaccagcctttcGgttcctgaccaagatgtggc	8	11	8	14	1	1	2	0	1	1	1	4	2	2	2	5	2	2	1	5	2	2	3			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:535886G>A	ENST00000215574.4	+	2	445	c.227G>A	c.(226-228)cGg>cAg	p.R76Q		NM_004359.1	NP_004350.1	P49427	UB2R1_HUMAN	cell division cycle 34	76					DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|negative regulation of cAMP-mediated signaling|proteasomal ubiquitin-dependent protein catabolic process|protein K48-linked ubiquitination	cytoplasm|nucleus	ATP binding|protein binding|ubiquitin-protein ligase activity			large_intestine(1)|lung(1)	2		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)		CCAGCCTTTCGGTTCCTGACC	0.647													A	535886	G	A	535886	3	1	722	1	0	0	0	0	1	0	0	0	3097	1116	39	1	233	1	CDC34	19	535886	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08		535886	58593097	28	55248											
CD97	976	broad.mit.edu	37	chr19	14499539	14499539	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcccggtggtgccctcagaaCtcctcgtgtgtcaatgccac	6	9	11	15	2	2	1	2	0	0	1	4	1	3	1	4	2	3	0	4	2	2	0			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:14499539C>T	ENST00000242786.5	+	3	179	c.99C>T	c.(97-99)aaC>aaT	p.N33N	CD97_ENST00000587728.1_3'UTR|CD97_ENST00000357355.3_Silent_p.N33N|CD97_ENST00000358600.3_Silent_p.N33N	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	33	EGF-like 1.				cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						GCCCTCAGAACTCCTCGTGTG	0.587													T	14499539	C	T	14499539	2	4	722	1	0	0	0	0	0	0	0	1	3079	564	20	2		2	CD97	19	14499539	Silent	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	13963653	14499539	44629444	29	55249											
CIC	23152	broad.mit.edu	37	chr19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggggcccaaggagaagCagaagtaccacgacctggcc	11	3	13	14	1	0	2	0	0	0	2	0	4	0	2	5	4	2	2	5	4	4	1			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42791853C>T	ENST00000572681.2	+	6	3534	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*|CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGGAGAAGCAGAAGTACCA	0.632			"Mis, F, S"		oligodendroglioma								T	42791853	C	T	42791853	4	4	722	1	0	0	0	0	0	1	0	0	3454	711	25	2	757	2	CIC	19	42791853	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08	28292314	42791853	16337130	30	55250											
CIC	23152	broad.mit.edu	37	chr19	42793116	42793116	+	Frame_Shift_Del	DEL	T	T	-																															gctccggggagcagctcctgTggggcagaacggctacacac																										TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr19:42793116delT	ENST00000572681.2	+	8	3803	c.3735delT	c.(3733-3735)tgtfs	p.C1245fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.C336fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.C336fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	336	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCAGCTCCTGTGGGGCAGAAC	0.622			"Mis, F, S"		oligodendroglioma								-	42793116	T	-	42793116	7	5	722	1	0	1	0	1	0	0	0	0	3454	1702	59	0	1034	0	CIC	19	42793116	Frame_Shift_Del	DEL	T	TCGA-S9-A7IY-01A-11D-A34A-08	1263	42793116	16335867	31	55251											
NDRG3	57446	broad.mit.edu	37	chr20	35293691	35293691	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtatgggtctttcgatctCcaggtctctgcgtctagaaa	8	13	10	10	2	4	1	0	0	4	1	7	2	4	1	1	2	1	1	1	2	3	3			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr20:35293691C>A	ENST00000373803.2	-	11	762	c.706G>T	c.(706-708)Gag>Tag	p.E236*	NDRG3_ENST00000540765.1_Nonsense_Mutation_p.E132*|NDRG3_ENST00000349004.1_Nonsense_Mutation_p.E236*|NDRG3_ENST00000359675.2_Nonsense_Mutation_p.E224*|NDRG3_ENST00000373773.3_Nonsense_Mutation_p.E141*			Q9UGV2	NDRG3_HUMAN	NDRG family member 3	236					cell differentiation|negative regulation of cell growth|spermatogenesis	cytoplasm				endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Myeloproliferative disorder(115;0.00878)				CTTTCGATCTCCAGGTCTCTG	0.368													A	35293691	C	A	35293691	4	1	722	1	0	0	0	0	0	1	0	0	10329	864	30	4	445	4	NDRG3	20	35293691	Nonsense_Mutation	SNP	C	TCGA-S9-A7IY-01A-11D-A34A-08		35293691	27731829	32	55252											
CBY1	25776	broad.mit.edu	37	chr22	39064094	39064094	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatacgttcagtccgaagaAgacacctcctcggaagtcgg	12	7	11	11	4	1	2	1	0	0	2	5	5	3	3	3	2	1	1	3	2	5	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39064094A>G	ENST00000216029.3	+	2	169	c.35A>G	c.(34-36)aAg>aGg	p.K12R	RP3-508I15.10_ENST00000423346.1_RNA|RP3-508I15.9_ENST00000431924.2_RNA|RP3-508I15.9_ENST00000422408.2_RNA	NM_015373.3	NP_056188.1	Q9Y3M2	CBY1_HUMAN	chibby homolog 1 (Drosophila)	12					cardiac muscle cell differentiation|fat cell differentiation|negative regulation of transcription, DNA-dependent|protein localization	nuclear speck|trans-Golgi network	beta-catenin binding|identical protein binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|ovary(1)	4	Melanoma(58;0.04)					AGTCCGAAGAAGACACCTCCT	0.537													G	39064094	A	G	39064094	3	3	722	1	0	0	0	0	1	0	0	0	2751	72	3	3	37	3	CBY1	22	39064094	Missense_Mutation	SNP	A	TCGA-S9-A7IY-01A-11D-A34A-08		39064094	12240472	33	55253											
CACNA1I	8911	broad.mit.edu	37	chr22	39994226	39994226	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttggcatgtaccagccgtgcGacgacatggactgcctgtcc	7	9	12	13	3	0	0	0	0	0	0	1	3	1	1	4	2	4	2	4	2	1	2			TCGA-S9-A7IY-01A-11D-A34A-08	TCGA-S9-A7IY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a9c6d8f4-b65d-45d1-be60-bc2582ca5ece	1630984f-6709-413b-841f-d9798f3bf99a	g.chr22:39994226G>A	ENST00000336649.4	+	4	307	c.307G>A	c.(307-309)Gac>Aac	p.D103N	CACNA1I_ENST00000402142.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000401624.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000407673.1_Missense_Mutation_p.D103N|CACNA1I_ENST00000400164.3_Missense_Mutation_p.D103N|CACNA1I_ENST00000404898.1_Missense_Mutation_p.D103N			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	103					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	CCAGCCGTGCGACGACATGGA	0.632													A	39994226	G	A	39994226	3	1	722	1	0	0	0	0	1	0	0	0	2572	1058	37	1	313	1	CACNA1I	22	39994226	Missense_Mutation	SNP	G	TCGA-S9-A7IY-01A-11D-A34A-08	930132	39994226	11310340	34	55254											
LPHN2	23266	broad.mit.edu	37	chr1	82456565	82456565	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccaacagagactctctttaTacaagcatgcccaatcttag	13	10	5	13	0	2	1	0	0	2	1	3	2	2	1	2	0	4	1	2	0	6	4			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:82456565T>C	ENST00000370728.1	+	25	4761	c.4116T>C	c.(4114-4116)taT>taC	p.Y1372Y	LPHN2_ENST00000370715.1_3'UTR|LPHN2_ENST00000359929.3_Silent_p.Y1316Y|LPHN2_ENST00000370721.1_Silent_p.Y1297Y|LPHN2_ENST00000370713.1_3'UTR|LPHN2_ENST00000370717.2_Silent_p.Y1387Y|LPHN2_ENST00000394879.1_Silent_p.Y1374Y|LPHN2_ENST00000319517.6_Silent_p.Y1316Y|LPHN2_ENST00000469377.2_3'UTR|LPHN2_ENST00000271029.4_Silent_p.Y1344Y|LPHN2_ENST00000370725.1_Silent_p.Y1387Y|LPHN2_ENST00000370723.1_Silent_p.Y1374Y|LPHN2_ENST00000335786.5_Silent_p.Y1329Y|LPHN2_ENST00000370730.1_Silent_p.Y1329Y|LPHN2_ENST00000370727.1_Silent_p.Y1344Y			O95490	LPHN2_HUMAN	latrophilin 2	1372					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		ACTCTCTTTATACAAGCATGC	0.512													C	82456565	T	C	82456565	2	2	723	1	0	0	0	0	0	0	0	1	8986	1413	49	3		3	LPHN2	1	82456565	Silent	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08		82456565	166794056	1	55255											
EVI5	7813	broad.mit.edu	37	chr1	92979278	92979278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttttgaaccacttggttgcTctctctggtctccagcacac	6	14	7	14	0	3	1	0	1	3	0	5	1	3	1	2	2	3	3	2	2	1	4			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:92979278T>C	ENST00000370331.1	-	18	2377	c.2368A>G	c.(2368-2370)Agc>Ggc	p.S790G	EVI5_ENST00000540033.1_Missense_Mutation_p.S790G|EVI5_ENST00000543509.1_Missense_Mutation_p.S801G	NM_005665.4	NP_005656.4	O60447	EVI5_HUMAN	ecotropic viral integration site 5	790	Interaction with AURKB and INCENP.|Targeting to the centrosomes.				cell cycle|cell division|cell proliferation|multicellular organismal development	microtubule organizing center|nucleus|spindle	protein binding|Rab GTPase activator activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(18)|ovary(1)|prostate(1)|skin(1)	38		all_lung(203;0.00146)|Lung NSC(277;0.00565)|all_neural(321;0.185)|Melanoma(281;0.193)|Glioma(108;0.203)		Epithelial(280;8.09e-25)|OV - Ovarian serous cystadenocarcinoma(397;1.27e-22)|all cancers(265;1.74e-21)|GBM - Glioblastoma multiforme(16;0.00233)|BRCA - Breast invasive adenocarcinoma(282;0.211)		ACTTGGTTGCTCTCTCTGGTC	0.488													C	92979278	T	C	92979278	3	2	723	1	0	0	0	0	1	0	0	0	5330	1551	54	3	68	3	EVI5	1	92979278	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	10522713	92979278	156271343	2	55256											
FLAD1	80308	broad.mit.edu	37	chr1	154965110	154965110	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcagaagagccatggaTgggccccttcccaggacagc	10	4	15	12	0	0	2	0	0	0	2	1	5	1	5	4	4	3	1	4	4	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:154965110T>C	ENST00000405236.2	+	3	989	c.989T>C	c.(988-990)aTg>aCg	p.M330T	FLAD1_ENST00000295530.2_Missense_Mutation_p.M162T|FLAD1_ENST00000292180.3_Intron|FLAD1_ENST00000368432.1_Intron|FLAD1_ENST00000368428.1_Intron|FLAD1_ENST00000315144.10_Intron			Q8NFF5	FAD1_HUMAN	flavin adenine dinucleotide synthetase 1	0					FAD biosynthetic process|Mo-molybdopterin cofactor biosynthetic process|water-soluble vitamin metabolic process	cytosol	ATP binding|FMN adenylyltransferase activity			endometrium(3)|kidney(4)|large_intestine(2)|lung(7)|ovary(3)|skin(3)	22	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GAGCCATGGATGGGCCCCTTC	0.507													C	154965110	T	C	154965110	3	2	723	1	0	0	0	0	1	0	0	0	5969	1479	51	3		3	FLAD1	1	154965110	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	61985832	154965110	94285511	3	55257											
THBS3	7059	broad.mit.edu	37	chr1	155171215	155171215	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aagcctagctcacctggcagGacactgcaccattgcgttca	10	8	9	14	1	2	0	2	0	0	0	2	1	2	1	3	2	4	4	3	2	2	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:155171215G>T	ENST00000368378.3	-	11	1342	c.1322C>A	c.(1321-1323)tCc>tAc	p.S441Y	THBS3_ENST00000457183.2_Missense_Mutation_p.S321Y|RP11-263K19.4_ENST00000453136.1_RNA|THBS3_ENST00000541990.1_5'UTR|RP11-263K19.4_ENST00000430312.1_RNA|THBS3_ENST00000541576.1_5'UTR|THBS3_ENST00000486260.1_5'UTR|RP11-263K19.4_ENST00000422665.1_RNA	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	441	EGF-like 4.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CACCTGGCAGGACACTGCACC	0.612													T	155171215	G	T	155171215	3	4	723	1	0	0	0	0	1	0	0	0	15955	1174	41	4	1600	4	THBS3	1	155171215	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	206105	155171215	94079406	4	55258											
BCAN	63827	broad.mit.edu	37	chr1	156626790	156626790	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgcctgctacaagcacttttCcacacgaaggagctgggagg	10	7	12	12	2	0	0	0	0	0	0	1	3	1	2	2	3	4	3	2	3	3	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:156626790C>A	ENST00000329117.5	+	10	2447	c.2111C>A	c.(2110-2112)tCc>tAc	p.S704Y	RP11-284F21.7_ENST00000448869.1_RNA	NM_021948.4	NP_068767.3	Q96GW7	PGCB_HUMAN	brevican		C-type lectin.				cell adhesion	anchored to membrane|proteinaceous extracellular matrix	hyaluronic acid binding|sugar binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	55	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AAGCACTTTTCCACACGAAGG	0.627													A	156626790	C	A	156626790	3	1	723	1	0	0	0	0	1	0	0	0	1350	855	30	4	2219	4	BCAN	1	156626790	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	1455575	156626790	92623831	5	55259											
IARS2	55699	broad.mit.edu	37	chr1	220284136	220284136	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttttttaaagttataaagAtgcttcagactgcaaagaat	15	16	6	4	0	1	3	1	0	0	3	1	3	1	3	0	0	2	3	0	0	7	7			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr1:220284136A>T	ENST00000366922.1	+	11	1451	c.1120A>T	c.(1120-1122)Atg>Ttg	p.M374L	IARS2_ENST00000302637.5_Missense_Mutation_p.M446L			Q9NSE4	SYIM_HUMAN	isoleucyl-tRNA synthetase 2, mitochondrial	446					isoleucyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|isoleucine-tRNA ligase activity			NS(1)|breast(1)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(17)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51				GBM - Glioblastoma multiforme(131;0.0554)	L-Isoleucine(DB00167)	AGTTATAAAGATGCTTCAGAC	0.338													T	220284136	A	T	220284136	3	4	723	1	0	0	0	0	1	0	0	0	7532	333	12	5	1378	5	IARS2	1	220284136	Missense_Mutation	SNP	A	TCGA-S9-A7IZ-01A-11D-A34A-08	63657346	220284136	28966485	6	55260											
PSME4	23198	broad.mit.edu	37	chr2	54128611	54128611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccctgaagaaacaatcgctGgccacgtctgtacaatacag	13	7	9	12	2	1	2	0	1	1	1	2	2	1	2	2	1	3	2	2	1	6	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:54128611G>A	ENST00000404125.1	-	28	3216	c.3161C>T	c.(3160-3162)cCa>cTa	p.P1054L	PSME4_ENST00000421748.2_Missense_Mutation_p.P198L	NM_014614.2	NP_055429.2	Q14997	PSME4_HUMAN	proteasome (prosome, macropain) activator subunit 4	1054					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell differentiation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|M/G1 transition of mitotic cell cycle|mRNA metabolic process|multicellular organismal development|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|spermatogenesis|viral reproduction	nuclear speck|proteasome complex	binding			breast(5)|endometrium(8)|kidney(1)|large_intestine(11)|lung(26)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(2)	60			Lung(47;0.125)|LUSC - Lung squamous cell carcinoma(58;0.181)			AACAATCGCTGGCCACGTCTG	0.438													A	54128611	G	A	54128611	3	1	723	1	0	0	0	0	1	0	0	0	12794	1348	47	2	2446	2	PSME4	2	54128611	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		54128611	189070762	7	55261											
LRP2	4036	broad.mit.edu	37	chr2	170097528	170097528	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggactcatctgtcccattggGgcagtcaaagatgccatcac	10	9	10	12	0	4	1	3	0	1	1	5	2	5	2	2	3	1	1	2	3	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr2:170097528G>T	ENST00000263816.3	-	25	4300	c.4015C>A	c.(4015-4017)Ccc>Acc	p.P1339T	LRP2_ENST00000443831.1_Missense_Mutation_p.P1202T	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1339	LDL-receptor class A 15.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	GTCCCATTGGGGCAGTCAAAG	0.488													T	170097528	G	T	170097528	3	4	723	1	0	0	0	0	1	0	0	0	9026	1232	43	4	10172	4	LRP2	2	170097528	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	115968917	170097528	73101845	8	55262											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	723	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	39015584	209113112	34086261	9	55263											
XPC	7508	broad.mit.edu	37	chr3	14220007	14220007	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gggccttgctcttggccttgGatttctggctgcgcagttcg	2	14	14	11	2	2	0	0	0	2	0	3	1	2	1	2	4	2	4	2	4	0	5			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr3:14220007G>C	ENST00000285021.7	-	1	276	c.62C>G	c.(61-63)tCc>tGc	p.S21C	LSM3_ENST00000306024.3_5'UTR|XPC_ENST00000449060.2_Missense_Mutation_p.S21C	NM_001145769.1|NM_004628.4	NP_001139241.1|NP_004619.3	Q01831	XPC_HUMAN	xeroderma pigmentosum, complementation group C	21					nucleotide-excision repair, DNA damage recognition|nucleotide-excision repair, DNA damage removal	cytoplasm|nucleoplasm|XPC complex	bubble DNA binding|damaged DNA binding|loop DNA binding|protein binding|single-stranded DNA binding			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						CTTGGCCTTGGATTTCTGGCT	0.697			"Mis, N, F, S"			"skin basal cell, skin squamous cell, melanoma"		Nucleotide excision repair (NER)	Xeroderma Pigmentosum				C	14220007	G	C	14220007	3	2	723	1	0	0	0	0	1	0	0	0	17543	1174	41	4	1773	4	XPC	3	14220007	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		14220007	183802423	10	55264											
TLL1	7092	broad.mit.edu	37	chr4	166924714	166924714	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	actatcataagagaaaacatCcagccaggtgagaggcatag	17	6	10	8	0	1	2	1	1	0	2	2	4	2	2	2	2	2	1	2	2	5	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr4:166924714C>A	ENST00000061240.2	+	6	1451	c.804C>A	c.(802-804)atC>atA	p.I268I	TLL1_ENST00000513213.1_Silent_p.I268I|TLL1_ENST00000507499.1_Silent_p.I268I	NM_012464.4	NP_036596.3	O43897	TLL1_HUMAN	tolloid-like 1	268	Metalloprotease (By similarity).				cell differentiation|proteolysis|skeletal system development	extracellular region	calcium ion binding|metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(21)|lung(26)|ovary(2)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	77	all_hematologic(180;0.221)	Melanoma(52;0.0315)|Prostate(90;0.0405)		GBM - Glioblastoma multiforme(119;0.103)		GAGAAAACATCCAGCCAGGTG	0.383													A	166924714	C	A	166924714	2	1	723	1	0	0	0	0	0	0	0	1	16045	845	30	4		4	TLL1	4	166924714	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		166924714	24229562	11	55265											
DNAH5	1767	broad.mit.edu	37	chr5	13923453	13923453	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgatgaagaacacacataccCcagtaagagccacatcgttt	15	8	7	11	1	0	4	0	2	0	2	1	4	0	4	3	0	3	2	3	0	4	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:13923453C>A	ENST00000265104.4	-	4	478	c.374G>T	c.(373-375)gGg>gTg	p.G125V		NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	125	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	p.G125V(1)		NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					CACACATACCCCAGTAAGAGC	0.473									Kartagener syndrome				A	13923453	C	A	13923453	3	1	723	1	0	0	0	0	1	0	0	0	4643	623	22	4	13804	4	DNAH5	5	13923453	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		13923453	166991807	12	55266											
ADAMTS2	9509	broad.mit.edu	37	chr5	178541201	178541201	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctctatcctgccctccacGttggtgaggttgttgtacag	5	13	12	11	1	1	1	0	1	1	0	3	1	3	1	3	3	2	5	3	3	2	5			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr5:178541201G>A	ENST00000251582.7	-	22	3404	c.3303C>T	c.(3301-3303)aaC>aaT	p.N1101N		NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	1101					collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		TGCCCTCCACGTTGGTGAGGT	0.547													A	178541201	G	A	178541201	2	1	723	1	0	0	0	0	0	0	0	1	265	1136	40	1		1	ADAMTS2	5	178541201	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	164617748	178541201	2374059	13	55267											
MYLK4	340156	broad.mit.edu	37	chr6	2678591	2678591	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattgtcacccaggaaaggCgacaaaccgctaagtctgga	13	7	10	11	2	3	0	2	0	1	0	3	3	3	2	2	3	1	1	2	3	3	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr6:2678591C>T	ENST00000274643.7	-	10	1245	c.903G>A	c.(901-903)tcG>tcA	p.S301S	MYLK4_ENST00000268446.5_Silent_p.S301S	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	301	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				CCAGGAAAGGCGACAAACCGC	0.498													T	2678591	C	T	2678591	2	4	723	1	0	0	0	0	0	0	0	1	10135	755	27	1		1	MYLK4	6	2678591	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		2678591	168436476	14	55268											
ARL4A	10124	broad.mit.edu	37	chr7	12728279	12728282	+	Frame_Shift_Del	DEL	AACA	AACA	-																															tccctgtacttatagttgctAacaaacaagatttgaggaac																										TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:12728279_12728282delAACA	ENST00000396663.1	+	2	882_885	c.400_403delAACA	c.(400-405)aacaaafs	p.NK134fs	ARL4A_ENST00000404894.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000356797.3_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396662.1_Frame_Shift_Del_p.NK134fs|ARL4A_ENST00000396664.2_Frame_Shift_Del_p.NK134fs	NM_001037164.2|NM_001195396.1|NM_005738.4|NM_212460.3	NP_001032241.1|NP_001182325.1|NP_005729.1|NP_997625.1	P40617	ARL4A_HUMAN	ADP-ribosylation factor-like 4A	134					small GTPase mediated signal transduction	cytoplasm|nucleolus|plasma membrane	GTP binding|protein binding			NS(2)|lung(3)|ovary(1)	6				UCEC - Uterine corpus endometrioid carcinoma (126;0.176)		TATAGTTGCTAACAAACAAGATTT	0.402													-	12728282	AACA	-	12728279	7	5	723	1	0	1	0	1	0	0	0	0	941	362	13	0	402	0	ARL4A	7	12728279	Frame_Shift_Del	DEL	AACA	TCGA-S9-A7IZ-01A-11D-A34A-08		12728279	146410384	15	55269											
ZAN	7455	broad.mit.edu	37	chr7	100364638	100364638	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcttctccacaggtgccGccacctgcacagcctcgggt	5	10	9	17	2	3	0	0	0	3	0	5	0	3	0	5	2	3	1	5	2	0	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:100364638G>A	ENST00000542585.1	+	0	4766				ZAN_ENST00000546213.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			CACAGGTGCCGCCACCTGCAC	0.607													A	100364638	G	A	100364638	1	1	723	0	1	0	0	0	0	0	0	0	17615	1087	38	1		1	ZAN	7	100364638	RNA	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	87636359	100364638	58774025	16	55270											
FAM71F1	84691	broad.mit.edu	37	chr7	128369970	128369970	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atctagggaaagattcttccCgtgaagacagcatcccttgc	11	10	9	11	1	2	3	0	1	2	2	4	4	4	4	2	1	2	1	2	1	3	4			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:128369970C>T	ENST00000315184.5	+	6	921	c.868C>T	c.(868-870)Cgt>Tgt	p.R290C	FAM71F1_ENST00000485070.1_Missense_Mutation_p.R189C	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	290										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						AGATTCTTCCCGTGAAGACAG	0.527													T	128369970	C	T	128369970	3	4	723	1	0	0	0	0	1	0	0	0	5662	652	23	1	890	1	FAM71F1	7	128369970	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	28005332	128369970	30768693	17	55271											
SSPO	23145	broad.mit.edu	37	chr7	149513538	149513538	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctgcgcccacgtcaCgcagcaggtgggctgcttct	4	10	11	16	3	3	0	1	0	2	0	4	0	3	0	2	2	3	4	2	2	0	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr7:149513538C>T	ENST00000378016.2	+	0	11159							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCCCACGTCACGCAGCAGGTG	0.692													T	149513538	C	T	149513538	1	4	723	0	1	0	0	0	0	0	0	0	15285	536	19	1		1	SSPO	7	149513538	RNA	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	21143568	149513538	9625125	18	55272											
MYBL1	4603	broad.mit.edu	37	chr8	67485730	67485730	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgttcattaccaggacaTgtgttgaaaaactagaaagg	15	11	10	5	0	1	2	1	1	0	1	1	3	1	3	1	2	2	3	1	2	5	5			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:67485730T>C	ENST00000522677.3	-	11	1892	c.1482A>G	c.(1480-1482)acA>acG	p.T494T	MYBL1_ENST00000517885.1_Silent_p.T152T|MYBL1_ENST00000524176.2_Silent_p.T494T	NM_001080416.2|NM_001144755.1	NP_001073885.1|NP_001138227.1	P10243	MYBA_HUMAN	v-myb avian myeloblastosis viral oncogene homolog-like 1	494	Negative regulatory domain (By similarity).				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(9)|ovary(2)|pancreas(1)|skin(1)	25			Epithelial(68;0.00211)|all cancers(69;0.00726)|OV - Ovarian serous cystadenocarcinoma(28;0.00989)|BRCA - Breast invasive adenocarcinoma(89;0.0938)			TACCAGGACATGTGTTGAAAA	0.323													C	67485730	T	C	67485730	2	2	723	1	0	0	0	0	0	0	0	1	10085	1451	51	3		3	MYBL1	8	67485730	Silent	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08		67485730	78878292	19	55273											
EPPK1	83481	broad.mit.edu	37	chr8	144940742	144940742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcgggcaccaggacgcccGcgatgcagctggtgccctcc	5	5	15	16	4	0	0	0	0	0	0	1	2	1	1	4	4	3	3	4	4	0	0			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:144940742G>A	ENST00000525985.1	-	2	6751	c.6680C>T	c.(6679-6681)gCg>gTg	p.A2227V				P58107	EPIPL_HUMAN	epiplakin 1	2227						cytoplasm|cytoskeleton	protein binding|structural molecule activity			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(2)|lung(30)|ovary(2)|pancreas(1)|prostate(10)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(97;1.42e-10)|all_epithelial(106;1.99e-09)|Lung NSC(106;0.000126)|all_lung(105;0.000354)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;2.88e-40)|all cancers(56;1.82e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CAGGACGCCCGCGATGCAGCT	0.677													A	144940742	G	A	144940742	3	1	723	1	0	0	0	0	1	0	0	0	5231	1087	38	1	586	1	EPPK1	8	144940742	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	77455012	144940742	1423280	20	55274											
C8orf33	65265	broad.mit.edu	37	chr8	146278468	146278468	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcacaacagttggcccaggaAttggcttggtgtgtggagca	9	9	15	8	0	0	0	0	0	0	0	0	2	0	2	1	5	2	4	1	5	2	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr8:146278468A>T	ENST00000331434.6	+	3	453	c.339A>T	c.(337-339)gaA>gaT	p.E113D		NM_023080.2	NP_075568.1	Q9H7E9	CH033_HUMAN	chromosome 8 open reading frame 33	113										endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	7	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;9.1e-38)|all cancers(56;7.37e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0424)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.243)		TGGCCCAGGAATTGGCTTGGT	0.597													T	146278468	A	T	146278468	3	4	723	1	0	0	0	0	1	0	0	0	2446	98	4	5	349	5	C8orf33	8	146278468	Missense_Mutation	SNP	A	TCGA-S9-A7IZ-01A-11D-A34A-08	1337726	146278468	85554	21	55275											
OR2D2	120776	broad.mit.edu	37	chr11	6913253	6913253	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtagcctcagtatgaaggtgGtgtctaccacagacaccaga	12	8	11	10	0	2	3	1	1	1	2	2	3	2	3	3	2	2	2	3	2	4	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:6913253G>C	ENST00000299459.2	-	1	577	c.479C>G	c.(478-480)aCc>aGc	p.T160S		NM_003700.1	NP_003691.1	Q9H210	OR2D2_HUMAN	olfactory receptor, family 2, subfamily D, member 2	160					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	18		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.68e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TATGAAGGTGGTGTCTACCAC	0.502													C	6913253	G	C	6913253	3	2	723	1	0	0	0	0	1	0	0	0	11070	1261	44	4	450	4	OR2D2	11	6913253	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		6913253	128093263	22	55276											
AMOTL1	154810	broad.mit.edu	37	chr11	94532857	94532857	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagggtcaagaacaccaggtGgacaatacggtgatggagaa	15	5	14	7	1	1	3	1	1	0	2	1	5	1	4	1	5	2	0	1	5	5	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:94532857G>A	ENST00000433060.2	+	3	642	c.501G>A	c.(499-501)gtG>gtA	p.V167V	AMOTL1_ENST00000317829.8_Silent_p.V117V|AMOTL1_ENST00000317837.9_Silent_p.V167V	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	167						cytoplasm|tight junction	identical protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				AACACCAGGTGGACAATACGG	0.527													A	94532857	G	A	94532857	2	1	723	1	0	0	0	0	0	0	0	1	583	1335	47	2		2	AMOTL1	11	94532857	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	87619604	94532857	40473659	23	55277											
EXPH5	23086	broad.mit.edu	37	chr11	108383203	108383203	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtcaagttcagaaacttTggaattgctttgatttgctt	9	18	9	5	0	2	2	2	1	0	1	2	3	2	3	0	1	3	3	0	1	3	6			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:108383203T>C	ENST00000265843.4	-	6	3141	c.3031A>G	c.(3031-3033)Aaa>Gaa	p.K1011E	EXPH5_ENST00000428840.1_Missense_Mutation_p.K935E|EXPH5_ENST00000525344.1_Missense_Mutation_p.K1004E|EXPH5_ENST00000443411.1_Missense_Mutation_p.K823E	NM_015065.2	NP_055880	Q149M6	Q149M6_HUMAN	exophilin 5	1011					intracellular protein transport		Rab GTPase binding			breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(13)|liver(1)|lung(34)|ovary(3)|pancreas(2)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(1)	91		all_cancers(61;3.99e-08)|Acute lymphoblastic leukemia(157;3.97e-05)|Melanoma(852;4.04e-05)|all_epithelial(67;0.000116)|all_hematologic(158;0.000315)|Breast(348;0.104)|all_neural(303;0.16)		Epithelial(105;8.1e-06)|BRCA - Breast invasive adenocarcinoma(274;1.22e-05)|all cancers(92;0.000129)|OV - Ovarian serous cystadenocarcinoma(223;0.11)|Colorectal(284;0.184)		TCAGAAACTTTGGAATTGCTT	0.378													C	108383203	T	C	108383203	3	2	723	1	0	0	0	0	1	0	0	0	5364	1821	63	3	2942	3	EXPH5	11	108383203	Missense_Mutation	SNP	T	TCGA-S9-A7IZ-01A-11D-A34A-08	13850346	108383203	26623313	24	55278											
PHLDB1	23187	broad.mit.edu	37	chr11	118516368	118516368	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcccctgacaacatgtccaGgtacacccgacgcctgggcc	8	6	9	18	2	0	1	0	1	0	0	2	2	2	1	6	2	2	1	6	2	2	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr11:118516368G>A	ENST00000361417.2	+	17	3827	c.3416G>A	c.(3415-3417)aGc>aAc	p.S1139N	PHLDB1_ENST00000524713.1_Splice_Site_p.S282N|PHLDB1_ENST00000527898.1_Splice_Site_p.S190N|PHLDB1_ENST00000534672.1_3'UTR|PHLDB1_ENST00000356063.5_Splice_Site_p.S1092N	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	1139										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AACATGTCCAGGTACACCCGA	0.637													A	118516368	G	A	118516368	5	1	723	1	0	0	0	0	0	0	1	0	11928	1014	35	2	3474	2	PHLDB1	11	118516368	Splice_Site	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	10133165	118516368	16490148	25	55279											
EMG1	10436	broad.mit.edu	37	chr12	7080210	7080211	+	Splice_Site	INS	-	-	G																															aaacaagatcggaggccgtaINSgtttattgtggtgctggaag																								rs141646579	by1000genomes	TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:7080210_7080211insG	ENST00000261406.6	+	2	266		c.e2-1		EMG1_ENST00000546220.1_3'UTR	NM_006331.7	NP_006322.4	Q92979	NEP1_HUMAN	EMG1 N1-specific pseudouridine methyltransferase						ribosomal small subunit biogenesis	cytoplasm|nucleolus	rRNA (pseudouridine) methyltransferase activity|rRNA binding										CGGAGGCCGTAGTTTATTGTGG	0.569													G	7080211	-	G	7080210	8	5	723	1	0	1	1	0	0	0	1	0	5131	420	15	0	126	0	EMG1	12	7080210	Splice_Site	INS	-	TCGA-S9-A7IZ-01A-11D-A34A-08		7080210	126771685	26	55280											
CDKN1B	1027	broad.mit.edu	37	chr12	12870948	12870948	+	Frame_Shift_Del	DEL	A	A	-																															tggaagaggcgagccagcgcAagtggaatttcgattttcag																										TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:12870948delA	ENST00000228872.4	+	1	891	c.175delA	c.(175-177)aagfs	p.K59fs	CDKN1B_ENST00000396340.1_Frame_Shift_Del_p.K59fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)	59					autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity			breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		GAGCCAGCGCAAGTGGAATTT	0.577													-	12870948	A	-	12870948	7	5	723	1	0	1	0	1	0	0	0	0	3189	131	5	0	177	0	CDKN1B	12	12870948	Frame_Shift_Del	DEL	A	TCGA-S9-A7IZ-01A-11D-A34A-08	5790738	12870948	120980947	27	55281											
SMARCC2	6601	broad.mit.edu	37	chr12	56558274	56558274	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaggtggggggagagtgccCggggcgaacgggagatggtg	7	6	23	5	3	0	2	0	0	0	2	0	5	0	2	1	8	2	0	1	8	2	1	rs142435936		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:56558274C>T	ENST00000550164.1	-	28	3488	c.3474G>A	c.(3472-3474)ccG>ccA	p.P1158P	SMARCC2_ENST00000394023.3_Intron|SMARCC2_ENST00000267064.4_Silent_p.P1127P|SMARCC2_ENST00000347471.4_Intron|RP11-977G19.5_ENST00000553176.1_RNA			Q8TAQ2	SMRC2_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2	1127	Pro-rich.				chromatin remodeling|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nucleoplasm|SWI/SNF complex	DNA binding|protein binding|transcription coactivator activity			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)	41			OV - Ovarian serous cystadenocarcinoma(18;0.123)			GGAGAGTGCCCGGGGCGAACG	0.592													T	56558274	C	T	56558274	2	4	723	1	0	0	0	0	0	0	0	1	14870	639	23	1		1	SMARCC2	12	56558274	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	43687326	56558274	77293621	28	55282											
WSCD2	9671	broad.mit.edu	37	chr12	108589876	108589876	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaagcattgctcgcaggtaCggaccctggttcaagggcaa	10	8	12	11	2	2	0	2	0	0	0	3	1	2	1	1	4	3	6	1	4	4	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:108589876C>T	ENST00000332082.4	+	3	1085	c.267C>T	c.(265-267)taC>taT	p.Y89Y	WSCD2_ENST00000261400.3_Silent_p.Y89Y|WSCD2_ENST00000549903.1_Silent_p.Y89Y|WSCD2_ENST00000547525.1_Silent_p.Y89Y			Q2TBF2	WSCD2_HUMAN	WSC domain containing 2	89						integral to membrane				breast(4)|endometrium(3)|kidney(1)|large_intestine(16)|liver(2)|lung(23)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	57						CTCGCAGGTACGGACCCTGGT	0.612													T	108589876	C	T	108589876	2	4	723	1	0	0	0	0	0	0	0	1	17509	547	19	1		1	WSCD2	12	108589876	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	52031602	108589876	25262019	29	55283											
CAMKK2	10645	broad.mit.edu	37	chr12	121678617	121678617	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctctcacaagagcacttcctCctcccccacggggggcgggt	6	7	11	17	2	1	1	1	0	1	1	5	1	4	1	4	4	1	1	4	4	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr12:121678617C>T	ENST00000324774.5	-	17	2480	c.1652G>A	c.(1651-1653)gGa>gAa	p.G551E	CAMKK2_ENST00000347034.2_Missense_Mutation_p.G508E|CAMKK2_ENST00000402834.4_Missense_Mutation_p.G551E|CAMKK2_ENST00000392474.2_Intron|CAMKK2_ENST00000412367.2_Missense_Mutation_p.E537K|CAMKK2_ENST00000538733.1_Missense_Mutation_p.E494K|CAMKK2_ENST00000545538.1_Intron|CAMKK2_ENST00000337174.3_Missense_Mutation_p.E537K|CAMKK2_ENST00000404169.3_Missense_Mutation_p.G551E	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	551					calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					AGCACTTCCTCCTCCCCCACG	0.647													T	121678617	C	T	121678617	3	4	723	1	0	0	0	0	1	0	0	0	2633	864	30	2	118	2	CAMKK2	12	121678617	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	13088741	121678617	12173278	30	55284											
NBEA	26960	broad.mit.edu	37	chr13	36223967	36223967	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgactctttgcagtgaataGatggcacaacacagtaggta	13	9	10	9	1	1	2	0	1	1	1	1	3	1	2	1	2	2	4	1	2	5	4			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36223967G>T	ENST00000540320.1	+	51	8417	c.7883G>T	c.(7882-7884)aGa>aTa	p.R2628I	NBEA_ENST00000310336.4_Missense_Mutation_p.R2628I|NBEA_ENST00000379922.3_Missense_Mutation_p.R206I|NBEA_ENST00000537702.1_Missense_Mutation_p.R421I|NBEA_ENST00000379939.2_Missense_Mutation_p.R2625I|NBEA_ENST00000400445.3_Missense_Mutation_p.R2628I			Q8NFP9	NBEA_HUMAN	neurobeachin	2628						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		GCAGTGAATAGATGGCACAAC	0.448													T	36223967	G	T	36223967	3	4	723	1	0	0	0	0	1	0	0	0	10263	942	33	4	8085	4	NBEA	13	36223967	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		36223967	78945911	31	55285											
SPG20	23111	broad.mit.edu	37	chr13	36909272	36909272	+	Frame_Shift_Del	DEL	A	A	-																															acctcccctgcaggatttacAaaaaaaatctgtactccatt																										TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr13:36909272delA	ENST00000451493.1	-	2	913	c.696delT	c.(694-696)tttfs	p.F232fs	SPG20_ENST00000495510.1_5'UTR|SPG20_ENST00000494062.2_Frame_Shift_Del_p.F232fs|SPG20_ENST00000355182.4_Frame_Shift_Del_p.F232fs|SPG20_ENST00000438666.2_Frame_Shift_Del_p.F232fs	NM_001142295.1	NP_001135767.1	Q8N0X7	SPG20_HUMAN	spastic paraplegia 20 (Troyer syndrome)	232					cell death	cytoplasm	ubiquitin protein ligase binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	27		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;2.42e-08)|Epithelial(112;1.58e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00128)|BRCA - Breast invasive adenocarcinoma(63;0.0125)|GBM - Glioblastoma multiforme(144;0.026)		CAGGATTTACAAAAAAAATCT	0.433													-	36909272	A	-	36909272	7	5	723	1	0	1	0	1	0	0	0	0	15138	127	5	0	1336	0	SPG20	13	36909272	Frame_Shift_Del	DEL	A	TCGA-S9-A7IZ-01A-11D-A34A-08	685305	36909272	78260606	32	55286											
RGS6	9628	broad.mit.edu	37	chr14	72976895	72976895	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caacagcgagtaaaaagatgGggcttctctttcgatgagat	13	10	11	7	2	1	2	0	1	1	2	3	5	1	2	0	2	2	2	0	2	4	3			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr14:72976895G>A	ENST00000553530.1	+	14	1206	c.999G>A	c.(997-999)tgG>tgA	p.W333*	RGS6_ENST00000402788.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000555571.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000406236.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000556437.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000407322.4_Nonsense_Mutation_p.W333*|RGS6_ENST00000553525.1_Nonsense_Mutation_p.W333*|RGS6_ENST00000404301.2_Nonsense_Mutation_p.W333*|RGS6_ENST00000434263.2_Nonsense_Mutation_p.W264*|RGS6_ENST00000343854.6_Nonsense_Mutation_p.W296*|RGS6_ENST00000355512.6_Nonsense_Mutation_p.W333*|RGS6_ENST00000554782.1_Nonsense_Mutation_p.W194*	NM_001204417.1|NM_001204418.1|NM_001204420.1|NM_001204421.1|NM_001204422.1|NM_004296.5	NP_001191346.1|NP_001191347.1|NP_001191349.1|NP_001191350.1|NP_001191351.1|NP_004287.3	P49758	RGS6_HUMAN	regulator of G-protein signaling 6	333					G-protein coupled receptor protein signaling pathway|intracellular signal transduction|negative regulation of signal transduction|regulation of G-protein coupled receptor protein signaling pathway	cytoplasm|heterotrimeric G-protein complex	GTPase activator activity|signal transducer activity			endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33				all cancers(60;0.00309)|BRCA - Breast invasive adenocarcinoma(234;0.0281)|STAD - Stomach adenocarcinoma(64;0.0302)|OV - Ovarian serous cystadenocarcinoma(108;0.0476)		TAAAAAGATGGGGCTTCTCTT	0.453													A	72976895	G	A	72976895	4	1	723	1	0	0	0	0	0	1	0	0	13398	1241	43	2	1049	2	RGS6	14	72976895	Nonsense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		72976895	34372645	33	55287											
ADAMTS7	11173	broad.mit.edu	37	chr15	79060504	79060504	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagggctgctcgctgcacttCctctgttggtcatcaggccg	4	11	12	14	2	3	0	2	0	1	0	5	0	4	0	2	3	2	5	2	3	0	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr15:79060504C>A	ENST00000388820.4	-	17	2826	c.2616G>T	c.(2614-2616)agG>agT	p.R872S	ADAMTS7_ENST00000566303.1_5'UTR	NM_014272.3	NP_055087.2	Q9UKP4	ATS7_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 7	872	TSP type-1 2.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(23)|ovary(1)|prostate(8)|skin(9)	54						CGCTGCACTTCCTCTGTTGGT	0.697													A	79060504	C	A	79060504	3	1	723	1	0	0	0	0	1	0	0	0	271	854	30	4	2476	4	ADAMTS7	15	79060504	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		79060504	23470888	34	55288											
TP53	7157	broad.mit.edu	37	chr17	7577093	7577113	+	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	CGGTCTCTCCCAGGACAGGCA	-																															gattctcttcctctgtgcgcCggtctctcccaggacaggca																								rs28934574		TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:7577093_7577113delCGGTCTCTCCCAGGACAGGCA	ENST00000420246.2	-	8	957_977	c.825_845delTGCCTGTCCTGGGAGAGACCG	c.(823-846)tgtgcctgtcctgggagagaccgg>tgg	p.275_282CACPGRDR>W	TP53_ENST00000445888.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000359597.4_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000455263.2_In_Frame_Del_p.275_282CACPGRDR>W|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_In_Frame_Del_p.275_282CACPGRDR>W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 LFS; 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.R282W(401)|p.R280T(65)|p.P278L(61)|p.P278S(55)|p.R280K(49)|p.G279E(32)|p.P278R(30)|p.R282G(29)|p.D281E(28)|p.R282Q(27)|p.D281N(25)|p.P278A(24)|p.C277F(24)|p.P278T(23)|p.R280G(20)|p.D281H(19)|p.R282P(17)|p.R280I(16)|p.D281Y(16)|p.R280S(15)|p.A276P(15)|p.C277Y(15)|p.P278H(13)|p.D281G(10)|p.R280fs*65(9)|p.A276S(9)|p.G279R(9)|p.R280*(8)|p.C277*(8)|p.0?(8)|p.C275W(7)|p.A276V(7)|p.A276T(7)|p.A276D(6)|p.P278fs*67(5)|p.D281V(5)|p.D281D(5)|p.C277G(5)|p.R282fs*24(4)|p.C275C(4)|p.A276G(4)|p.G279V(4)|p.C277C(4)|p.R282L(3)|p.R282H(3)|p.R282R(3)|p.R280R(3)|p.P278F(3)|p.G279G(3)|p.D281fs*63(2)|p.G279fs*27(2)|p.D281_R282>EW(2)|p.D281A(2)|p.D281>AGPY(2)|p.R280_D281delRD(2)|p.A276A(2)|p.G279fs*65(2)|p.A276fs*69(2)|p.G279W(2)|p.P278fs*28(2)|p.?(2)|p.C277W(2)|p.C277fs*29(2)|p.G279_R280delGR(1)|p.C275_A276ins10(1)|p.V274_P278del(1)|p.G279fs*59(1)|p.P278_G279insXXXXX(1)|p.D281_R282insXX(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.C275fs*20(1)|p.A276fs*29(1)|p.G279fs*26(1)|p.P278P(1)|p.C277_P278insXXXXXXX(1)|p.A276fs*31(1)|p.V272_K292del21(1)|p.D281R(1)|p.A276_R283delACPGRDRR(1)|p.R273_C275delRVC(1)|p.R280fs*62(1)|p.C275*(1)|p.D281fs*24(1)|p.A276fs*70(1)|p.L265_K305del41(1)|p.C275fs*67(1)|p.R282fs*63(1)|p.A276fs*64(1)|p.A276fs*68(1)|p.R283fs*62(1)|p.R282_E287delRRTEEE(1)|p.S269fs*21(1)|p.C275_R283delCACPGRDRR(1)|p.C277R(1)|p.C277S(1)|p.D281_R282delDR(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)		CTCTGTGCGCCGGTCTCTCCCAGGACAGGCACAAACACGCA	0.552		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)			-	7577113	CGGTCTCTCCCAGGACAGGCA	-	7577093	7	5	723	1	0	1	0	1	0	0	0	0	16482	652	23	0	441	0	TP53	17	7577093	In_Frame_Del	DEL	CGGTCTCTCCCAGGACAGGCA	TCGA-S9-A7IZ-01A-11D-A34A-08		7577093	73618117	35	55289											
CACNA1G	8913	broad.mit.edu	37	chr17	48649291	48649291	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acgctgcccatgctgggcaaCgtcctgctgctctgcttctt	4	12	10	15	2	2	0	0	0	2	0	3	0	3	0	2	1	6	6	2	1	1	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr17:48649291C>T	ENST00000352832.5	+	5	1011	c.639C>T	c.(637-639)aaC>aaT	p.N213N	CACNA1G_ENST00000503485.1_Silent_p.N213N|CACNA1G_ENST00000515165.1_Silent_p.N213N|CACNA1G_ENST00000510115.1_Silent_p.N213N|CACNA1G_ENST00000514181.1_Silent_p.N213N|CACNA1G_ENST00000515765.1_Silent_p.N213N|CACNA1G_ENST00000359106.5_Silent_p.N213N|CACNA1G_ENST00000429973.2_Silent_p.N213N|CACNA1G_ENST00000514079.1_Silent_p.N213N|CACNA1G_ENST00000505165.1_Silent_p.N213N|CACNA1G_ENST00000507609.1_Silent_p.N213N|CACNA1G_ENST00000507510.2_Silent_p.N213N|CACNA1G_ENST00000358244.5_Silent_p.N213N|CACNA1G_ENST00000513689.2_Silent_p.N213N|CACNA1G_ENST00000507336.1_Silent_p.N213N|CACNA1G_ENST00000416767.4_Silent_p.N213N|CACNA1G_ENST00000360761.4_Silent_p.N213N|CACNA1G_ENST00000507896.1_Silent_p.N213N|CACNA1G_ENST00000512389.1_Silent_p.N213N|CACNA1G_ENST00000514717.1_Silent_p.N213N|CACNA1G_ENST00000510366.1_Silent_p.N213N|CACNA1G_ENST00000515411.1_Silent_p.N213N|CACNA1G_ENST00000513964.1_Silent_p.N213N|CACNA1G_ENST00000442258.2_Silent_p.N213N|CACNA1G_ENST00000354983.4_Silent_p.N213N|CACNA1G_ENST00000502264.1_Silent_p.N213N	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	213					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TGCTGGGCAACGTCCTGCTGC	0.617													T	48649291	C	T	48649291	2	4	723	1	0	0	0	0	0	0	0	1	2570	535	19	1		1	CACNA1G	17	48649291	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	41072198	48649291	32545919	36	55290											
ZNF234	10780	broad.mit.edu	37	chr19	44660574	44660574	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gatttgtcctgccaggttagGgcaggactatatacaactca	11	11	10	9	0	1	0	1	0	0	0	2	2	2	1	2	3	3	2	2	3	5	5			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:44660574G>A	ENST00000426739.2	+	6	663	c.405G>A	c.(403-405)agG>agA	p.R135R	ZNF234_ENST00000592437.1_Silent_p.R135R	NM_006630.2	NP_006621.1	Q14588	ZN234_HUMAN	zinc finger protein 234	135	KRNB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|ovary(1)|prostate(1)	23		Prostate(69;0.0435)				GCCAGGTTAGGGCAGGACTAT	0.378													A	44660574	G	A	44660574	2	1	723	1	0	0	0	0	0	0	0	1	17888	1223	43	2		2	ZNF234	19	44660574	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		44660574	14468409	37	55291											
KIR3DL1	3811	broad.mit.edu	37	chr19	55331320	55331320	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctcacgcctcgttggaCagatccatgatggggtctcc	7	9	10	15	2	2	2	1	1	1	1	5	3	3	3	5	3	0	1	5	3	0	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr19:55331320C>A	ENST00000391728.4	+	4	541	c.508C>A	c.(508-510)Cag>Aag	p.Q170K	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.Q75K|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.Q170K|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.Q170K	NM_013289.2	NP_037421.2			killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1											breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		CCTCGTTGGACAGATCCATGA	0.517													A	55331320	C	A	55331320	3	1	723	1	0	0	0	0	1	0	0	0	8378	479	17	4	522	4	KIR3DL1	19	55331320	Missense_Mutation	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	10670746	55331320	3797663	38	55292											
PAK7	57144	broad.mit.edu	37	chr20	9523285	9523285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcccggatcctccgcatcGcctggaggggaggctcattg	5	9	14	13	3	1	0	1	0	0	0	5	3	4	3	4	5	0	2	4	5	0	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:9523285G>A	ENST00000378429.3	-	10	2498	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V	PAK7_ENST00000353224.5_Missense_Mutation_p.A651V|PAK7_ENST00000378423.1_Missense_Mutation_p.A651V	NM_020341.3	NP_065074.1	Q9P286	PAK7_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 7	651	Protein kinase.						ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(44)|ovary(2)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)	81			COAD - Colon adenocarcinoma(9;0.194)			CCTCCGCATCGCCTGGAGGGG	0.507													A	9523285	G	A	9523285	3	1	723	1	0	0	0	0	1	0	0	0	11481	1087	38	1	215	1	PAK7	20	9523285	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		9523285	53502235	39	55293											
DIDO1	11083	broad.mit.edu	37	chr20	61511261	61511261	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccggcttcatcacctgcGgggcctggccctggaagtga	5	7	15	14	2	2	1	2	1	0	0	2	2	2	2	4	6	1	1	4	6	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:61511261G>A	ENST00000266070.4	-	16	6372	c.6047C>T	c.(6046-6048)cCg>cTg	p.P2016L	DIDO1_ENST00000395343.1_Missense_Mutation_p.P2016L	NM_033081.2	NP_149072.2	Q9BTC0	DIDO1_HUMAN	death inducer-obliterator 1	2016	Pro-rich.				apoptosis|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding			NS(6)|breast(5)|central_nervous_system(1)|cervix(3)|endometrium(6)|kidney(1)|large_intestine(17)|lung(39)|ovary(8)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)	99	Breast(26;5.68e-08)					CATCACCTGCGGGGCCTGGCC	0.687													A	61511261	G	A	61511261	3	1	723	1	0	0	0	0	1	0	0	0	4561	1116	39	1	679	1	DIDO1	20	61511261	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	51987976	61511261	1514259	40	55294											
ZBTB46	140685	broad.mit.edu	37	chr20	62422012	62422012	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccctccacgaccacgcaGacgtcgcacaggacgccgtg	8	5	11	17	6	0	1	0	0	0	1	2	3	1	2	4	1	1	2	4	1	0	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr20:62422012G>T	ENST00000245663.4	-	2	249	c.99C>A	c.(97-99)gtC>gtA	p.V33V	ZBTB46_ENST00000302995.2_Silent_p.V33V|ZBTB46_ENST00000395104.1_Silent_p.V33V	NM_025224.3	NP_079500.2	Q86UZ6	ZBT46_HUMAN	zinc finger and BTB domain containing 46	33	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	24	all_cancers(38;2.09e-12)|all_epithelial(29;3.8e-14)|Lung NSC(23;7.61e-10)|all_lung(23;2.64e-09)					CGACCACGCAGACGTCGCACA	0.587													T	62422012	G	T	62422012	2	4	723	1	0	0	0	0	0	0	0	1	17648	929	33	4		4	ZBTB46	20	62422012	Silent	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	910751	62422012	603508	41	55295											
DIP2A	23181	broad.mit.edu	37	chr21	47918601	47918601	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gagccctggctcgaccgggtCattcagggctcgtccacctc	5	8	12	16	3	2	0	2	0	0	0	6	2	3	0	4	3	1	2	4	3	0	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chr21:47918601C>T	ENST00000318711.7	+	5	693	c.510C>T	c.(508-510)gtC>gtT	p.V170V	DIP2A_ENST00000400274.1_Silent_p.V170V|DIP2A_ENST00000466639.1_Silent_p.V170V|DIP2A_ENST00000435722.3_Silent_p.V170V|DIP2A_ENST00000457905.3_Silent_p.V170V|DIP2A_ENST00000417564.2_Silent_p.V170V|DIP2A_ENST00000427143.2_Silent_p.V106V	NM_001146116.1|NM_015151.3	NP_001139588.1|NP_055966.2	Q14689	DIP2A_HUMAN	DIP2 disco-interacting protein 2 homolog A (Drosophila)	170					multicellular organismal development	nucleus	catalytic activity|transcription factor binding			cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(22)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(49;0.0933)			Epithelial(3;3.12e-06)|OV - Ovarian serous cystadenocarcinoma(3;5.68e-06)|all cancers(3;4.08e-05)|Colorectal(79;0.0129)|COAD - Colon adenocarcinoma(84;0.0824)		TCGACCGGGTCATTCAGGGCT	0.667													T	47918601	C	T	47918601	2	4	723	1	0	0	0	0	0	0	0	1	4566	813	29	2		2	DIP2A	21	47918601	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08		47918601	211294	42	55296											
FGD1	2245	broad.mit.edu	37	chrX	54475673	54475673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttccttttcccggatgggcGtaggtgcccgcttcccaaga	5	11	11	14	3	0	1	0	0	0	1	3	2	3	2	4	3	1	2	4	3	2	5			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:54475673G>A	ENST00000375135.3	-	15	2910	c.2177C>T	c.(2176-2178)aCg>aTg	p.T726M		NM_004463.2	NP_004454.2	P98174	FGD1_HUMAN	FYVE, RhoGEF and PH domain containing 1	726					actin cytoskeleton organization|apoptosis|filopodium assembly|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|organ morphogenesis|regulation of Cdc42 GTPase activity|regulation of cell shape|small GTPase mediated signal transduction	cytoskeleton|cytosol|Golgi apparatus|lamellipodium|nucleus|plasma membrane|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(10)|lung(8)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	39						CCGGATGGGCGTAGGTGCCCG	0.607													A	54475673	G	A	54475673	3	1	723	1	0	0	0	0	1	0	0	0	5881	1145	40	1	724	1	FGD1	23	54475673	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08		54475673	100794887	43	55297											
ATRX	546	broad.mit.edu	37	chrX	76938929	76938929	+	Frame_Shift_Del	DEL	C	C	-																															atctttatcttgtggaacttCctgacaatcagcacctttaa																										TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:76938929delC	ENST00000373344.5	-	9	2033	c.1819delG	c.(1819-1821)gaafs	p.E607fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.E569fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	607					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)	TGTGGAACTTCCTGACAATCA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938929	C	-	76938929	7	5	723	1	0	1	0	1	0	0	0	0	1213	864	30	0	5767	0	ATRX	23	76938929	Frame_Shift_Del	DEL	C	TCGA-S9-A7IZ-01A-11D-A34A-08	22463256	76938929	78331631	44	55298											
ZCCHC12	170261	broad.mit.edu	37	chrX	117959361	117959361	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagttgttctcggggaggGtggtgccagcccaaggggaa	8	8	18	7	1	1	1	0	1	1	0	2	3	1	3	2	6	2	2	2	6	3	2			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:117959361G>T	ENST00000310164.2	+	4	661	c.154G>T	c.(154-156)Gtg>Ttg	p.V52L		NM_173798.2	NP_776159.1	Q6PEW1	ZCH12_HUMAN	zinc finger, CCHC domain containing 12	52					regulation of transcription, DNA-dependent|transcription, DNA-dependent		nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(2)	22						ctcggggagggtggtgccagc	0.552													T	117959361	G	T	117959361	3	4	723	1	0	0	0	0	1	0	0	0	17682	1261	44	4	156	4	ZCCHC12	23	117959361	Missense_Mutation	SNP	G	TCGA-S9-A7IZ-01A-11D-A34A-08	41020432	117959361	37311199	45	55299											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298906	125298906	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttctgctggcgctggcgCggatccaggaaggagacgtg	7	8	17	9	4	1	1	0	0	1	1	2	4	2	3	1	5	1	3	1	5	1	1			TCGA-S9-A7IZ-01A-11D-A34A-08	TCGA-S9-A7IZ-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	233b3927-8f2f-41ab-b0d4-fe407294ee1e	cf9a712f-a229-476b-9fb7-72cf76d11a37	g.chrX:125298906C>T	ENST00000538699.1	-	2	1082	c.1002G>A	c.(1000-1002)ccG>ccA	p.P334P	DCAF12L2_ENST00000360028.2_Silent_p.P334P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	334								p.P334P(1)		NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GGCGCTGGCGCGGATCCAGGA	0.622													T	125298906	C	T	125298906	2	4	723	1	0	0	0	0	0	0	0	1	4299	755	27	1		1	DCAF12L2	23	125298906	Silent	SNP	C	TCGA-S9-A7IZ-01A-11D-A34A-08	7339545	125298906	29971654	46	55300											
CPSF3L	54973	broad.mit.edu	37	chr1	1250944	1250944	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactttaatctggaacatggCtgcccccagcacgtggcctg	8	9	10	14	1	1	0	0	0	1	0	1	1	1	1	3	3	3	2	3	3	2	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:1250944C>G	ENST00000540437.1	-	7	957	c.502G>C	c.(502-504)Gcc>Ccc	p.A168P	CPSF3L_ENST00000421495.2_5'UTR|CPSF3L_ENST00000462432.1_5'UTR|CPSF3L_ENST00000545578.1_Missense_Mutation_p.A133P|CPSF3L_ENST00000419704.1_Missense_Mutation_p.A61P|CPSF3L_ENST00000435064.1_Missense_Mutation_p.A162P|CPSF3L_ENST00000450926.2_Intron|CPSF3L_ENST00000411962.1_Missense_Mutation_p.A64P	NM_001256456.1	NP_001243385.1	Q5TA45	INT11_HUMAN	cleavage and polyadenylation specific factor 3-like	162						Golgi apparatus|nucleus	hydrolase activity			endometrium(4)|kidney(2)|lung(3)|prostate(1)|upper_aerodigestive_tract(3)	13	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(86;4.35e-21)|Colorectal(212;0.000166)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.00235)|BRCA - Breast invasive adenocarcinoma(365;0.00255)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0349)|Lung(427;0.201)		TGGAACATGGCTGCCCCCAGC	0.607													G	1250944	C	G	1250944	3	3	724	1	0	0	0	0	1	0	0	0	3858	797	28	4	1370	4	CPSF3L	1	1250944	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		1250944	247999677	1	55301											
PDE4B	5142	broad.mit.edu	37	chr1	66384510	66384510	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	attgctattacaactgtaagCcaggagtggtgagtagcctc	11	11	11	8	0	0	1	0	1	0	0	1	2	0	2	2	2	5	3	2	2	5	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:66384510C>G	ENST00000329654.4	+	3	460	c.273C>G	c.(271-273)agC>agG	p.S91R	PDE4B_ENST00000371049.3_Missense_Mutation_p.S91R	NM_001037341.1	NP_001032418.1	Q07343	PDE4B_HUMAN	phosphodiesterase 4B, cAMP-specific	91					signal transduction	cytosol|insoluble fraction|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	37					Adenosine monophosphate(DB00131)|Amrinone(DB01427)|Caffeine(DB00201)|Cilostazol(DB01166)|Dyphylline(DB00651)|Enprofylline(DB00824)|Papaverine(DB01113)|Pentoxifylline(DB00806)|Theophylline(DB00277)	CAACTGTAAGCCAGGAGTGGT	0.398													G	66384510	C	G	66384510	3	3	724	1	0	0	0	0	1	0	0	0	11716	738	26	4	279	4	PDE4B	1	66384510	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	65133566	66384510	182866111	2	55302											
NRAS	4893	broad.mit.edu	37	chr1	115258745	115258745	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgcgcttttcccaacacCacctgctccaaccaccacca	10	7	4	20	1	0	0	0	0	0	0	2	0	2	0	7	0	4	2	7	0	2	2	rs121434595		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:115258745C>G	ENST00000369535.4	-	2	290	c.37G>C	c.(37-39)Ggt>Cgt	p.G13R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	13			G -> D (in a patient with an autoimmune lymphoproliferative disorder).|G -> R (in colorectal cancer).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.G13R(76)|p.G13C(23)|p.G13S(5)|p.G13N(1)|p.G13Y(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCCCAACACCACCTGCTCCA	0.498	G13R(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			G	115258745	C	G	115258745	3	3	724	1	0	0	0	0	1	0	0	0	10716	594	21	4	548	4	NRAS	1	115258745	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	48874235	115258745	133991876	3	55303											
CD1D	912	broad.mit.edu	37	chr1	158151456	158151456	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcatatatttcgggtttaTcgaagcagcttcaccaggga	11	11	10	9	2	1	0	1	0	0	0	3	2	1	1	1	2	3	4	1	2	4	6			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:158151456T>C	ENST00000368171.3	+	3	772	c.273T>C	c.(271-273)taT>taC	p.Y91Y		NM_001766.3	NP_001757.1	P15813	CD1D_HUMAN	CD1d molecule	91					antigen processing and presentation, endogenous lipid antigen via MHC class Ib|detection of bacterium|innate immune response|interspecies interaction between organisms|positive regulation of innate immune response|T cell selection	endosome membrane|integral to plasma membrane|lysosomal membrane	beta-2-microglobulin binding|exogenous lipid antigen binding|histone binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(19)|ovary(1)|prostate(3)|urinary_tract(2)	30	all_hematologic(112;0.0378)					TTCGGGTTTATCGAAGCAGCT	0.572													C	158151456	T	C	158151456	2	2	724	1	0	0	0	0	0	0	0	1	3007	1442	50	3		3	CD1D	1	158151456	Silent	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	42892711	158151456	91099165	4	55304											
EDARADD	128178	broad.mit.edu	37	chr1	236645901	236645901	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgcgcaggtgggtggaCgaggagtggcccaagcggga	7	6	20	8	3	1	0	0	0	1	0	1	4	1	3	1	6	2	2	1	6	1	1	rs74942492	by1000genomes	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr1:236645901C>T	ENST00000359362.5	+	6	784	c.570C>T	c.(568-570)gaC>gaT	p.D190D	EDARADD_ENST00000334232.4_Silent_p.D200D	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	200	Death.				cell differentiation|signal transduction	cytoplasm				endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			GGTGGGTGGACGAGGAGTGGC	0.602													T	236645901	C	T	236645901	2	4	724	1	0	0	0	0	0	0	0	1	4945	535	19	1		1	EDARADD	1	236645901	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	78494445	236645901	12604720	5	55305											
C2orf71	388939	broad.mit.edu	37	chr2	29295877	29295877	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctgaacctttgccataggAgcccctgagagcaggcagtc	9	7	13	12	0	0	2	0	2	0	1	1	4	0	3	4	3	4	3	4	3	2	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:29295877A>G	ENST00000331664.5	-	1	1250	c.1251T>C	c.(1249-1251)gcT>gcC	p.A417A		NM_001029883.2	NP_001025054.1	A6NGG8	CB071_HUMAN	chromosome 2 open reading frame 71	417					response to stimulus|visual perception	photoreceptor outer segment				NS(2)|breast(5)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(2)|prostate(6)|skin(3)|stomach(1)	60						TTGCCATAGGAGCCCCTGAGA	0.582													G	29295877	A	G	29295877	2	3	724	1	0	0	0	0	0	0	0	1	2212	291	11	3		3	C2orf71	2	29295877	Silent	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08		29295877	213903496	6	55306											
OTX1	5013	broad.mit.edu	37	chr2	63283331	63283331	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgccttcaactctgccgaCtgcttggattacaaggagcc	8	11	9	13	1	2	0	1	0	1	0	2	3	2	2	3	2	6	1	3	2	3	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:63283331C>G	ENST00000366671.3	+	5	1221	c.945C>G	c.(943-945)gaC>gaG	p.D315E	OTX1_ENST00000282549.2_Missense_Mutation_p.D315E	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	315						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.D315E(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ACTCTGCCGACTGCTTGGATT	0.602													G	63283331	C	G	63283331	3	3	724	1	0	0	0	0	1	0	0	0	11396	564	20	4	955	4	OTX1	2	63283331	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	33987454	63283331	179916042	7	55307											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	724	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	145829782	209113113	34086260	8	55308											
B3GNT7	93010	broad.mit.edu	37	chr2	232263162	232263162	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaaggcgacgatgacgtcttCgtcaaccccaccaacctgct	11	7	8	15	4	2	1	1	1	1	0	3	3	2	1	4	1	3	1	4	1	3	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr2:232263162C>T	ENST00000287590.5	+	2	993	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_145236.2	NP_660279.1	Q8NFL0	B3GN7_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 7	244					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			endometrium(2)|kidney(1)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(1)	17		Renal(207;0.025)|all_hematologic(139;0.094)|Acute lymphoblastic leukemia(138;0.164)|Medulloblastoma(418;0.232)		Epithelial(121;3.22e-11)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(119;0.0139)		ATGACGTCTTCGTCAACCCCA	0.567													T	232263162	C	T	232263162	2	4	724	1	0	0	0	0	0	0	0	1	1267	883	31	1		1	B3GNT7	2	232263162	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	23150049	232263162	10936211	9	55309											
IL5RA	3568	broad.mit.edu	37	chr3	3146598	3146598	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtccttactcttttcatcaGgaagtaagtcagcttgcagt	9	14	9	9	0	4	0	3	0	1	0	5	1	5	1	1	2	3	3	1	2	3	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:3146598G>A	ENST00000446632.2	-	3	645	c.71C>T	c.(70-72)cCt>cTt	p.P24L	IL5RA_ENST00000438560.1_Missense_Mutation_p.P24L|IL5RA_ENST00000311981.8_Missense_Mutation_p.P24L|IL5RA_ENST00000430514.2_Missense_Mutation_p.P24L|IL5RA_ENST00000445864.2_Missense_Mutation_p.P24L|IL5RA_ENST00000256452.3_Missense_Mutation_p.P24L|IL5RA_ENST00000456302.1_Missense_Mutation_p.P24L|IL5RA_ENST00000383846.1_Missense_Mutation_p.P24L|IL5RA_ENST00000418488.2_Missense_Mutation_p.P24L	NM_175726.3	NP_783853.1	Q01344	IL5RA_HUMAN	interleukin 5 receptor, alpha	24					cell proliferation	extracellular space|integral to membrane|plasma membrane	interleukin-5 receptor activity			cervix(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)|prostate(2)|skin(2)	24				Epithelial(13;0.00278)|all cancers(10;0.00809)|OV - Ovarian serous cystadenocarcinoma(96;0.00944)		CTTTTCATCAGGAAGTAAGTC	0.343													A	3146598	G	A	3146598	3	1	724	1	0	0	0	0	1	0	0	0	7758	1000	35	2	1257	2	IL5RA	3	3146598	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		3146598	194875832	10	55310											
CDCP1	64866	broad.mit.edu	37	chr3	45127296	45127296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaactttgcagttggggccCtggagcatatggtgggtggg	6	10	17	8	0	0	0	0	0	0	0	0	1	0	1	2	6	3	3	2	6	2	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:45127296C>G	ENST00000296129.1	-	9	2479	c.2345G>C	c.(2344-2346)aGg>aCg	p.R782T		NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	782						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		AGTTGGGGCCCTGGAGCATAT	0.622													G	45127296	C	G	45127296	3	3	724	1	0	0	0	0	1	0	0	0	3123	681	24	4	169	4	CDCP1	3	45127296	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	41980698	45127296	152895134	11	55311											
CAMKV	79012	broad.mit.edu	37	chr3	49899533	49899533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcaccttgcggccgtcccGcttctggaacttcttgcagg	4	10	11	16	4	2	0	0	0	2	0	3	1	3	1	4	3	3	3	4	3	1	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr3:49899533G>A	ENST00000477224.1	-	3	650	c.172C>T	c.(172-174)Cgg>Tgg	p.R58W	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000467248.1_5'UTR|CAMKV_ENST00000488336.1_Missense_Mutation_p.R58W|CAMKV_ENST00000463537.1_Missense_Mutation_p.R58W|CAMKV_ENST00000296471.7_Missense_Mutation_p.R58W|CAMKV_ENST00000466940.1_Missense_Mutation_p.R58W			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	58	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		CGGCCGTCCCGCTTCTGGAAC	0.592													A	49899533	G	A	49899533	3	1	724	1	0	0	0	0	1	0	0	0	2634	1086	38	1	1369	1	CAMKV	3	49899533	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	4772237	49899533	148122897	12	55312											
EVC2	132884	broad.mit.edu	37	chr4	5564756	5564756	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtacaggggccagttcgccaAtgggctccagtgacaggtgt	8	8	15	10	1	0	1	0	1	0	0	2	1	1	1	3	4	1	3	3	4	2	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:5564756A>G	ENST00000310917.2	-	22	4237	c.3506T>C	c.(3505-3507)aTt>aCt	p.I1169T	EVC2_ENST00000344408.5_Missense_Mutation_p.I1249T|EVC2_ENST00000344938.1_Intron	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	1249						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						CAGTTCGCCAATGGGCTCCAG	0.448													G	5564756	A	G	5564756	3	3	724	1	0	0	0	0	1	0	0	0	5327	101	4	3	184	3	EVC2	4	5564756	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08		5564756	185589520	13	55313											
LRRC66	339977	broad.mit.edu	37	chr4	52861983	52861983	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttttttgccacagtctgTcaacataaggccttgtgaaa	11	14	7	9	0	2	1	1	1	1	0	2	1	2	1	2	1	2	0	2	1	3	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr4:52861983T>A	ENST00000343457.3	-	4	1211	c.1205A>T	c.(1204-1206)gAc>gTc	p.D402V		NM_001024611.1	NP_001019782.1	Q68CR7	LRC66_HUMAN	leucine rich repeat containing 66	402						integral to membrane				central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(8)|lung(34)|ovary(1)|pancreas(1)|prostate(2)|skin(1)	58						CCACAGTCTGTCAACATAAGG	0.562													A	52861983	T	A	52861983	3	1	724	1	0	0	0	0	1	0	0	0	9088	1667	58	5	1441	5	LRRC66	4	52861983	Missense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	47297227	52861983	138292293	14	55314											
CTNND2	1501	broad.mit.edu	37	chr5	11411675	11411675	+	Frame_Shift_Del	DEL	C	C	-																															tgtagaataatcctgtgggtCaagtattcctgattcctgta																										TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:11411675delC	ENST00000304623.8	-	5	601	c.412delG	c.(412-414)gacfs	p.D138fs	CTNND2_ENST00000359640.2_Frame_Shift_Del_p.D138fs|CTNND2_ENST00000511377.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000503622.1_Frame_Shift_Del_p.D47fs|CTNND2_ENST00000458100.2_5'UTR	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	138					multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						TCCTGTGGGTCAAGTATTCCT	0.373													-	11411675	C	-	11411675	7	5	724	1	0	1	0	1	0	0	0	0	4053	826	29	0	3337	0	CTNND2	5	11411675	Frame_Shift_Del	DEL	C	TCGA-S9-A7J0-01A-11D-A34A-08		11411675	169503585	15	55315											
SLC4A9	83697	broad.mit.edu	37	chr5	139740529	139740529	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccttgtactgctggactgCccagctcagagcctcctgga	6	9	12	14	0	1	1	1	0	0	1	2	3	2	3	4	3	5	3	4	3	1	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:139740529C>T	ENST00000230993.6	+	2	470	c.435C>T	c.(433-435)tgC>tgT	p.C145C	SLC4A9_ENST00000506545.1_Silent_p.C121C|SLC4A9_ENST00000506757.2_Silent_p.C121C|SLC4A9_ENST00000432095.2_Silent_p.C121C|SLC4A9_ENST00000507527.1_Silent_p.C145C	NM_001258428.1	NP_001245357.1	Q96Q91	B3A4_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 9	145						integral to membrane|plasma membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(7)|prostate(1)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCTGGACTGCCCAGCTCAGA	0.657													T	139740529	C	T	139740529	2	4	724	1	0	0	0	0	0	0	0	1	14754	747	26	2		2	SLC4A9	5	139740529	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	128328854	139740529	41174731	16	55316											
PCDHA8	56140	broad.mit.edu	37	chr5	140222719	140222719	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccgactcgggctacaacGcgtggctttcgtatgagctg	7	9	13	12	6	0	1	0	1	0	0	2	2	0	1	1	2	3	4	1	2	3	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:140222719G>A	ENST00000531613.1	+	1	1813	c.1813G>A	c.(1813-1815)Gcg>Acg	p.A605T	PCDHA8_ENST00000378123.3_Missense_Mutation_p.A605T|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	NM_018911.2	NP_061734.1														NS(2)|breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(31)|ovary(2)|prostate(2)|skin(4)|stomach(2)|upper_aerodigestive_tract(6)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGGCTACAACGCGTGGCTTTC	0.677													A	140222719	G	A	140222719	3	1	724	1	0	0	0	0	1	0	0	0	11606	1087	38	1	1815	1	PCDHA8	5	140222719	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	482190	140222719	40692541	17	55317											
FAT2	2196	broad.mit.edu	37	chr5	150946625	150946625	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtaagattgataaaagggCgtttgagggatatcactccg	13	10	12	6	2	1	3	1	2	0	1	2	4	2	4	1	2	0	2	1	2	4	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:150946625C>T	ENST00000261800.5	-	1	1880	c.1868G>A	c.(1867-1869)cGc>cAc	p.R623H		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	623	Cadherin 5.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATAAAAGGGCGTTTGAGGGA	0.403													T	150946625	C	T	150946625	3	4	724	1	0	0	0	0	1	0	0	0	5739	768	27	1	11273	1	FAT2	5	150946625	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	10723906	150946625	29968635	18	55318											
MGAT1	4245	broad.mit.edu	37	chr5	180219007	180219007	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtgctggtcaaagaactgcCcgtggctcacacccttgcgg	7	8	13	13	2	2	1	2	0	0	1	2	1	2	1	2	4	4	2	2	4	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr5:180219007C>T	ENST00000446023.2	-	3	1715	c.965G>A	c.(964-966)gGg>gAg	p.G322E	MGAT1_ENST00000393340.3_Missense_Mutation_p.G322E|MGAT1_ENST00000427865.2_Missense_Mutation_p.G322E|MGAT1_ENST00000333055.3_Missense_Mutation_p.G322E|MGAT1_ENST00000307826.4_Missense_Mutation_p.G322E	NM_001114617.1|NM_001114618.1	NP_001108089.1|NP_001108090.1	P26572	MGAT1_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase	322					post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity|metal ion binding			endometrium(1)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	13	all_cancers(89;1.11e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.0027)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00356)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AAAGAACTGCCCGTGGCTCAC	0.602													T	180219007	C	T	180219007	3	4	724	1	0	0	0	0	1	0	0	0	9617	623	22	2	376	2	MGAT1	5	180219007	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	29272382	180219007	696253	19	55319											
MDC1	9656	broad.mit.edu	37	chr6	30673766	30673766	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtaaaaggggagaaagaaggGgcggaggtgcaagatgtttc	14	6	18	3	1	0	3	0	0	0	3	1	5	0	4	0	6	1	3	0	6	5	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:30673766G>A	ENST00000376406.3	-	10	3841	c.3194C>T	c.(3193-3195)cCc>cTc	p.P1065L	MDC1_ENST00000376405.2_Missense_Mutation_p.P801L|MDC1-AS1_ENST00000442150.1_RNA	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	1065	Pro-rich.			Missing (in Ref. 2; CAH18685).	cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						AGAAAGAAGGGGCGGAGGTGC	0.547								Other conserved DNA damage response genes					A	30673766	G	A	30673766	3	1	724	1	0	0	0	0	1	0	0	0	9478	1232	43	2	3099	2	MDC1	6	30673766	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		30673766	140441301	20	55320											
C6orf222	389384	broad.mit.edu	37	chr6	36297863	36297863	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcacggtccgctcacccctgCgagctgggcccaggtcagcc	5	5	13	18	3	2	0	2	0	0	0	3	1	3	0	5	3	3	3	5	3	0	0	rs140939742	by1000genomes	TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:36297863C>T	ENST00000437635.2	-	2	782	c.605G>A	c.(604-606)cGc>cAc	p.R202H		NM_001010903.4	NP_001010903.3	P0C671	CF222_HUMAN	chromosome 6 open reading frame 222	202										breast(4)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|skin(4)|urinary_tract(4)	26						CTCACCCCTGCGAGCTGGGCC	0.642													T	36297863	C	T	36297863	3	4	724	1	0	0	0	0	1	0	0	0	2378	768	27	1	1397	1	C6orf222	6	36297863	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	5624097	36297863	134817204	21	55321											
TAAR2	9287	broad.mit.edu	37	chr6	132938561	132938561	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcactattcctaaagtttTggcagcttttttgtctttct	7	21	5	8	0	3	0	1	0	2	0	4	0	4	0	1	1	1	3	1	1	4	10			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:132938561T>A	ENST00000275191.2	-	1	756	c.649A>T	c.(649-651)Aaa>Taa	p.K217*	TAAR2_ENST00000367931.1_Nonsense_Mutation_p.K262*|TAAR2_ENST00000537809.1_Nonsense_Mutation_p.K217*	NM_014626.3	NP_055441.2	Q9P1P5	TAAR2_HUMAN	trace amine associated receptor 2	262						plasma membrane	G-protein coupled receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)	23	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00608)|GBM - Glioblastoma multiforme(226;0.0151)		CCTAAAGTTTTGGCAGCTTTT	0.328													A	132938561	T	A	132938561	4	1	724	1	0	0	0	0	0	1	0	0	15587	1821	63	5	275	5	TAAR2	6	132938561	Nonsense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08	96640698	132938561	38176506	22	55322											
TIAM2	26230	broad.mit.edu	37	chr6	155458639	155458639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaggaacagggggtggtccGgaaggccgggtggctcttct	7	7	19	8	2	2	0	0	0	2	0	3	3	3	2	2	8	1	1	2	8	3	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:155458639G>A	ENST00000461783.3	+	7	2796	c.1523G>A	c.(1522-1524)cGg>cAg	p.R508Q	TIAM2_ENST00000456144.1_Missense_Mutation_p.R508Q|TIAM2_ENST00000318981.5_Missense_Mutation_p.R508Q|TIAM2_ENST00000529824.2_Missense_Mutation_p.R508Q|TIAM2_ENST00000360366.4_Missense_Mutation_p.R508Q|TIAM2_ENST00000367174.2_5'UTR			Q8IVF5	TIAM2_HUMAN	T-cell lymphoma invasion and metastasis 2	508	PH 1.				apoptosis|cellular lipid metabolic process|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|filopodium|growth cone|lamellipodium	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(20)|lung(21)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	65		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;8.1e-13)|BRCA - Breast invasive adenocarcinoma(81;0.0053)		GGGGTGGTCCGGAAGGCCGGG	0.542													A	155458639	G	A	155458639	3	1	724	1	0	0	0	0	1	0	0	0	15991	1116	39	1	1529	1	TIAM2	6	155458639	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	22520078	155458639	15656428	23	55323											
TBP	6908	broad.mit.edu	37	chr6	170871043	170871043	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcagcagcagcagcaacaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr6:170871043G>A	ENST00000392092.2	+	3	498	c.219G>A	c.(217-219)caG>caA	p.Q73Q	TBP_ENST00000230354.6_Silent_p.Q73Q|TBP_ENST00000540980.1_Silent_p.Q53Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	73	Poly-Gln.				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	p.Q73Q(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcaacagcaacagcagc	0.562													A	170871043	G	A	170871043	2	1	724	1	0	0	0	0	0	0	0	1	15744	962	34	2		2	TBP	6	170871043	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	15412404	170871043	244024	24	55324											
ABCB5	340273	broad.mit.edu	37	chr7	20685472	20685472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaatccgaacagtcataGcctttagggcccaggagaaa	14	7	9	11	1	2	1	2	0	0	1	3	3	3	1	3	2	2	0	3	2	5	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:20685472G>A	ENST00000404938.2	+	8	1424	c.772G>A	c.(772-774)Gcc>Acc	p.A258T		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	444	ABC transmembrane type-1.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AACAGTCATAGCCTTTAGGGC	0.408													A	20685472	G	A	20685472	3	1	724	1	0	0	0	0	1	0	0	0	44	971	34	2	798	2	ABCB5	7	20685472	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		20685472	138453191	25	55325											
CRHR2	1395	broad.mit.edu	37	chr7	30693147	30693147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtagggatggacatggcccGggccatggggactcgaaggg	8	6	19	8	2	0	0	0	0	0	0	1	4	0	3	2	7	0	1	2	7	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:30693147G>A	ENST00000471646.1	-	12	1582	c.1165C>T	c.(1165-1167)Cgg>Tgg	p.R389W	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000348438.4_Missense_Mutation_p.R416W|CRHR2_ENST00000341843.4_Missense_Mutation_p.R375W	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	389					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.R375R(1)|p.R389R(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						GACATGGCCCGGGCCATGGGG	0.657													A	30693147	G	A	30693147	3	1	724	1	0	0	0	0	1	0	0	0	3903	1115	39	1	74	1	CRHR2	7	30693147	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	10007675	30693147	128445516	26	55326											
AUTS2	26053	broad.mit.edu	37	chr7	69364317	69364317	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacgtgtggagaaacgccagAcgcccctgaccaagaagaaa	16	3	11	11	3	0	5	0	1	0	4	0	6	0	5	4	1	2	0	4	1	5	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:69364317A>G	ENST00000342771.4	+	2	676	c.355A>G	c.(355-357)Acg>Gcg	p.T119A	AUTS2_ENST00000403018.2_Missense_Mutation_p.T119A|AUTS2_ENST00000406775.2_Missense_Mutation_p.T119A	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	119										breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GAAACGCCAGACGCCCCTGAC	0.483													G	69364317	A	G	69364317	3	3	724	1	0	0	0	0	1	0	0	0	1230	275	10	3	361	3	AUTS2	7	69364317	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	38671170	69364317	89774346	27	55327											
CYP51A1	1595	broad.mit.edu	37	chr7	91747893	91747893	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtctaagtcttaatgtttCttttatacagcgatcaagta	12	16	7	6	1	4	0	1	0	3	0	4	1	4	0	0	1	2	2	0	1	6	7			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:91747893C>A	ENST00000003100.8	-	8	1288	c.1123G>T	c.(1123-1125)Gaa>Taa	p.E375*	LRRD1_ENST00000422722.1_5'UTR|CYP51A1_ENST00000450723.1_Nonsense_Mutation_p.E270*	NM_000786.3	NP_000777.1	Q16850	CP51A_HUMAN	cytochrome P450, family 51, subfamily A, polypeptide 1	369					cholesterol biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	electron carrier activity|heme binding|sterol 14-demethylase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|skin(1)	10	all_cancers(62;2.16e-09)|all_epithelial(64;3.86e-08)|Breast(17;0.00206)|all_lung(186;0.169)|all_hematologic(106;0.215)|Lung NSC(181;0.227)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)		Fluconazole(DB00196)|Itraconazole(DB01167)|Ketoconazole(DB01026)|Miconazole(DB01110)|Terconazole(DB00251)	CTTAATGTTTCTTTTATACAG	0.353													A	91747893	C	A	91747893	4	1	724	1	0	0	0	0	0	1	0	0	4228	922	32	4	418	4	CYP51A1	7	91747893	Nonsense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	22383576	91747893	67390770	28	55328											
SLC26A4	5172	broad.mit.edu	37	chr7	107312617	107312617	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctactagctgcagttcctgtCggatatggtctctactctgc	6	14	9	12	1	2	0	0	0	2	0	5	1	3	1	1	2	5	3	1	2	4	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr7:107312617C>T	ENST00000265715.3	+	4	563	c.339C>T	c.(337-339)gtC>gtT	p.V113V		NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	113					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						CAGTTCCTGTCGGATATGGTC	0.378									Pendred syndrome				T	107312617	C	T	107312617	2	4	724	1	0	0	0	0	0	0	0	1	14613	871	31	1		1	SLC26A4	7	107312617	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	15564724	107312617	51826046	29	55329											
CDH17	1015	broad.mit.edu	37	chr8	95188826	95188826	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgactggagaaacgtgggtcGattgtcgttgatgtccttca	8	13	13	7	3	1	3	1	2	0	1	4	5	2	3	1	2	1	1	1	2	1	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr8:95188826G>A	ENST00000027335.3	-	5	491	c.367C>T	c.(367-369)Cga>Tga	p.R123*	CDH17_ENST00000441892.2_Nonsense_Mutation_p.R123*|CDH17_ENST00000450165.2_Nonsense_Mutation_p.R123*	NM_004063.3	NP_004054.3	Q12864	CAD17_HUMAN	cadherin 17, LI cadherin (liver-intestine)	123	Cadherin 1.					integral to membrane	calcium ion binding	p.R123*(1)		NS(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(18)|ovary(6)|prostate(3)|skin(4)|stomach(2)	52	Breast(36;4.65e-06)		BRCA - Breast invasive adenocarcinoma(8;0.00691)			AACGTGGGTCGATTGTCGTTG	0.493													A	95188826	G	A	95188826	4	1	724	1	0	0	0	0	0	1	0	0	3132	1066	37	1	2187	1	CDH17	8	95188826	Nonsense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		95188826	51175196	30	55330											
GLIS3	169792	broad.mit.edu	37	chr9	4118146	4118146	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagggagcggaggcgcgggGggtaggtctacggtgctgcc	5	5	23	8	4	1	0	0	0	1	0	1	3	1	3	1	9	4	2	1	9	2	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:4118146G>T	ENST00000324333.10	-	3	1060	c.867C>A	c.(865-867)ccC>ccA	p.P289P	GLIS3_ENST00000381971.3_Silent_p.P444P	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	289	Pro-rich.				negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		gaggcgcggggggTAGGTCTA	0.736													T	4118146	G	T	4118146	2	4	724	1	0	0	0	0	0	0	0	1	6503	1219	43	4		4	GLIS3	9	4118146	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		4118146	137095285	31	55331											
RECK	8434	broad.mit.edu	37	chr9	36091312	36091315	+	Frame_Shift_Del	DEL	CTTA	CTTA	-																															gccagttgggctgtagaaacCttacttactgtactaatttt																										TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr9:36091312_36091315delCTTA	ENST00000377966.3	+	10	1623_1626	c.1057_1060delCTTA	c.(1057-1062)cttactfs	p.LT353fs		NM_021111.2	NP_066934.1	O95980	RECK_HUMAN	reversion-inducing-cysteine-rich protein with kazal motifs	353						anchored to membrane|peripheral to membrane of membrane fraction|plasma membrane	metalloendopeptidase inhibitor activity|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	32			LUSC - Lung squamous cell carcinoma(32;0.112)|STAD - Stomach adenocarcinoma(86;0.228)			CTGTAGAAACCTTACTTACTGTAC	0.343													-	36091315	CTTA	-	36091312	7	5	724	1	0	1	0	1	0	0	0	0	13288	681	24	0	1095	0	RECK	9	36091312	Frame_Shift_Del	DEL	CTTA	TCGA-S9-A7J0-01A-11D-A34A-08	31973166	36091312	105122119	32	55332											
USP54	159195	broad.mit.edu	37	chr10	75294484	75294484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttgtagggatagctctccgTtgaggaatctgttcgagtgt	7	15	13	6	2	2	1	0	1	2	0	4	4	2	3	1	2	1	4	1	2	3	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:75294484T>C	ENST00000339859.4	-	11	1289	c.1189A>G	c.(1189-1191)Acg>Gcg	p.T397A	USP54_ENST00000428547.1_Missense_Mutation_p.T247A|USP54_ENST00000394811.2_5'UTR|USP54_ENST00000497106.1_Intron|USP54_ENST00000408019.1_Missense_Mutation_p.T397A|USP54_ENST00000319786.7_Missense_Mutation_p.T397A			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	397					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					TAGCTCTCCGTTGAGGAATCT	0.463													C	75294484	T	C	75294484	3	2	724	1	0	0	0	0	1	0	0	0	17187	1725	60	3	3917	3	USP54	10	75294484	Missense_Mutation	SNP	T	TCGA-S9-A7J0-01A-11D-A34A-08		75294484	60240263	33	55333											
SYCE1	93426	broad.mit.edu	37	chr10	135369378	135369378	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcacagctgatgcttcaCgtcttccagtgtcgccttga	7	11	11	12	2	2	2	1	2	1	0	4	3	3	3	2	1	3	3	2	1	0	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr10:135369378C>T	ENST00000368517.3	-	10	655	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	SYCE1_ENST00000432597.2_Missense_Mutation_p.V173M|SYCE1_ENST00000343131.5_Missense_Mutation_p.V209M|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	209					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		TGATGCTTCACGTCTTCCAGT	0.597													T	135369378	C	T	135369378	3	4	724	1	0	0	0	0	1	0	0	0	15524	536	19	1	489	1	SYCE1	10	135369378	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	60074894	135369378	165369	34	55334											
MICAL2	9645	broad.mit.edu	37	chr11	12231056	12231056	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctggtagaaattggctggcGggcagaatttctccctacag	9	10	12	10	1	1	2	0	0	1	2	2	2	1	2	2	4	1	3	2	4	4	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:12231056G>A	ENST00000256194.4	+	6	890	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	MICAL2_ENST00000379612.3_Missense_Mutation_p.R201Q|MICAL2_ENST00000537344.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000527546.1_Missense_Mutation_p.R201Q|MICAL2_ENST00000342902.5_Missense_Mutation_p.R201Q	NM_001282663.1|NM_014632.2	NP_001269592.1|NP_055447.1	O94851	MICA2_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 2	201						cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(2)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	47				Epithelial(150;0.00552)		ATTGGCTGGCGGGCAGAATTT	0.507													A	12231056	G	A	12231056	3	1	724	1	0	0	0	0	1	0	0	0	9645	1116	39	1	616	1	MICAL2	11	12231056	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		12231056	122775460	35	55335											
MRGPRX1	259249	broad.mit.edu	37	chr11	18956124	18956124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaggaagaggaagtctgctgCggccaagttgaggatgtaga	12	7	17	5	1	1	3	0	1	1	2	1	7	1	6	1	4	2	3	1	4	4	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:18956124C>T	ENST00000302797.3	-	1	432	c.208G>A	c.(208-210)Gca>Aca	p.A70T	MRGPRX1_ENST00000526914.1_5'UTR	NM_147199.3	NP_671732.3	Q96LB2	MRGX1_HUMAN	MAS-related GPR, member X1	70					acute-phase response	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(12)|pancreas(2)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						AAGTCTGCTGCGGCCAAGTTG	0.532													T	18956124	C	T	18956124	3	4	724	1	0	0	0	0	1	0	0	0	9842	768	27	1	764	1	MRGPRX1	11	18956124	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	6725068	18956124	116050392	36	55336											
PANX3	116337	broad.mit.edu	37	chr11	124489721	124489721	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtgttgaaggatacaaccAcccagaagcacaatattgac	15	8	9	9	0	0	3	0	2	0	1	0	4	0	4	2	1	3	2	2	1	6	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr11:124489721A>G	ENST00000284288.2	+	4	1136	c.1069A>G	c.(1069-1071)Acc>Gcc	p.T357A		NM_052959.2	NP_443191.1	Q96QZ0	PANX3_HUMAN	pannexin 3	357					protein hexamerization	gap junction|integral to membrane	gap junction hemi-channel activity|ion channel activity			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|urinary_tract(1)	26	all_hematologic(175;0.215)	Breast(109;0.00109)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0219)		GGATACAACCACCCAGAAGCA	0.433													G	124489721	A	G	124489721	3	3	724	1	0	0	0	0	1	0	0	0	11498	159	6	3	1083	3	PANX3	11	124489721	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	105533597	124489721	10516795	37	55337											
EP400	57634	broad.mit.edu	37	chr12	132551995	132551995	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagcagaaggccatccagccCcaggctgcacagggcccggc	9	2	13	17	1	0	1	0	0	0	1	1	1	1	1	5	4	3	3	5	4	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr12:132551995C>T	ENST00000333577.4	+	51	9055	c.8946C>T	c.(8944-8946)ccC>ccT	p.P2982P	EP400_ENST00000389561.2_Silent_p.P2946P|EP400_ENST00000389562.2_Silent_p.P2945P|EP400_ENST00000332482.4_Silent_p.P2909P|EP400_ENST00000330386.6_Silent_p.P2865P			Q96L91	EP400_HUMAN	E1A binding protein p400	2982					histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity			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)		CCATCCAGCCCCAGGCTGCAC	0.652													T	132551995	C	T	132551995	2	4	724	1	0	0	0	0	0	0	0	1	5190	610	22	2		2	EP400	12	132551995	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		132551995	1299900	38	55338											
MYH6	4624	broad.mit.edu	37	chr14	23857416	23857416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcagcagcagcattggagCgctctacgtccaccatcaag	10	7	10	14	2	2	0	1	0	1	0	3	1	3	1	2	1	6	5	2	1	2	2	rs142556730		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr14:23857416C>T	ENST00000405093.3	-	30	4377	c.4307G>A	c.(4306-4308)cGc>cAc	p.R1436H	MYH6_ENST00000356287.3_Missense_Mutation_p.R1436H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1436					adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		AGCATTGGAGCGCTCTACGTC	0.587													T	23857416	C	T	23857416	3	4	724	1	0	0	0	0	1	0	0	0	10114	768	27	1	1552	1	MYH6	14	23857416	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		23857416	83492124	39	55339											
FAM103A1	83640	broad.mit.edu	37	chr15	83657865	83657865	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcaggaatacctgaaacGccctcctgagtctcctccaa	11	9	7	14	1	2	2	1	2	1	0	5	3	4	3	5	1	2	1	5	1	5	2	rs150238339		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:83657865G>A	ENST00000304191.3	+	3	316	c.95G>A	c.(94-96)cGc>cAc	p.R32H	RP11-382A20.5_ENST00000566841.1_RNA|C15orf40_ENST00000538348.2_Silent_p.G137G	NM_031452.3	NP_113640.1	Q9BTL3	F103A_HUMAN	family with sequence similarity 103, member A1	32										prostate(1)	1						TACCTGAAACGCCCTCCTGAG	0.428													A	83657865	G	A	83657865	3	1	724	1	0	0	0	0	1	0	0	0	5429	1087	38	1	97	1	FAM103A1	15	83657865	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		83657865	18873527	40	55340											
CHD2	1106	broad.mit.edu	37	chr15	93522490	93522490	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accactggccggacgatcctGgaaaacaactcaggaaggtc	13	5	11	12	2	1	0	1	0	0	0	3	4	2	3	3	5	2	0	3	5	4	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr15:93522490G>A	ENST00000394196.4	+	22	3921	c.2853G>A	c.(2851-2853)ctG>ctA	p.L951L	CHD2_ENST00000557381.1_Silent_p.L951L	NM_001271.3	NP_001262.3	O14647	CHD2_HUMAN	chromodomain helicase DNA binding protein 2	951					regulation of transcription from RNA polymerase II promoter	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	47	Lung NSC(78;0.00976)|all_lung(78;0.016)		BRCA - Breast invasive adenocarcinoma(143;0.0282)|OV - Ovarian serous cystadenocarcinoma(32;0.0814)			GGACGATCCTGGAAAACAACT	0.458													A	93522490	G	A	93522490	2	1	724	1	0	0	0	0	0	0	0	1	3355	1335	47	2		2	CHD2	15	93522490	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	9864625	93522490	9008902	41	55341											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:7578413C>T	ENST00000420246.2	-	5	649	c.517G>A	c.(517-519)Gtg>Atg	p.V173M	TP53_ENST00000269305.4_Missense_Mutation_p.V173M|TP53_ENST00000455263.2_Missense_Mutation_p.V173M|TP53_ENST00000413465.2_Missense_Mutation_p.V173M|TP53_ENST00000359597.4_Missense_Mutation_p.V173M|TP53_ENST00000445888.2_Missense_Mutation_p.V173M|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			T	7578413	C	T	7578413	3	4	724	1	0	0	0	0	1	0	0	0	16482	478	17	2	781	2	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		7578413	73616797	42	55342											
CCDC144A	9720	broad.mit.edu	37	chr17	16610781	16610781	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaatgtttggattttgcAgcagaacaagactcggagct	12	11	11	7	1	0	3	0	1	0	2	1	5	0	5	0	2	4	4	0	2	3	3			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:16610781A>G	ENST00000443444.2	+	4	804		c.e4-1		CCDC144A_ENST00000436374.1_Splice_Site|CCDC144A_ENST00000456009.1_Splice_Site|CCDC144A_ENST00000399273.1_Splice_Site|CCDC144A_ENST00000360524.8_Splice_Site|RP11-219A15.1_ENST00000448331.3_Splice_Site|CCDC144A_ENST00000340621.5_Intron			A2RUR9	C144A_HUMAN	coiled-coil domain containing 144A																		TGGATTTTGCAGCAGAACAAG	0.313													G	16610781	A	G	16610781	5	3	724	1	0	0	0	0	0	0	1	0	2803	202	7	3	677	3	CCDC144A	17	16610781	Splice_Site	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	9032368	16610781	64584429	43	55343											
FKBP10	60681	broad.mit.edu	37	chr17	39969425	39969425	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctggaagatgtggtcatcGagaggtaccacatccccagg	10	7	12	12	1	1	2	1	0	0	2	3	4	2	3	4	4	1	1	4	4	2	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:39969425G>A	ENST00000321562.4	+	1	243	c.139G>A	c.(139-141)Gag>Aag	p.E47K		NM_021939.3	NP_068758.3	Q96AY3	FKB10_HUMAN	FK506 binding protein 10, 65 kDa	47					protein folding	endoplasmic reticulum lumen|membrane	calcium ion binding|FK506 binding|peptidyl-prolyl cis-trans isomerase activity			cervix(1)|endometrium(3)|large_intestine(1)|lung(5)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(137;0.00122)		BRCA - Breast invasive adenocarcinoma(366;0.148)		TGTGGTCATCGAGAGGTACCA	0.642													A	39969425	G	A	39969425	3	1	724	1	0	0	0	0	1	0	0	0	5951	1059	37	1	141	1	FKBP10	17	39969425	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	23358644	39969425	41225785	44	55344											
CACNA1G	8913	broad.mit.edu	37	chr17	48703992	48703992	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaggagggctccgtccagCgactccaaggatcccttggc	7	6	14	14	3	0	0	0	0	0	0	4	4	4	3	4	5	1	1	4	5	1	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:48703992C>T	ENST00000352832.5	+	34	7005	c.6633C>T	c.(6631-6633)agC>agT	p.S2211S	CACNA1G_ENST00000510366.1_Silent_p.S2193S|CACNA1G_ENST00000514079.1_Silent_p.S2252S|CACNA1G_ENST00000429973.2_Silent_p.S2227S|CACNA1G_ENST00000507510.2_Silent_p.S2293S|CACNA1G_ENST00000442258.2_Silent_p.S2204S|CACNA1G_ENST00000507609.1_Silent_p.S2238S|CACNA1G_ENST00000513689.2_Silent_p.S2248S|CACNA1G_ENST00000515165.1_Silent_p.S2245S|CACNA1G_ENST00000358244.5_Silent_p.S2132S|CACNA1G_ENST00000507336.1_Silent_p.S2327S|CACNA1G_ENST00000510115.1_Silent_p.S2259S|CACNA1G_ENST00000515765.1_Silent_p.S2282S|CACNA1G_ENST00000360761.4_Silent_p.S2222S|CACNA1G_ENST00000505165.1_Silent_p.S2166S|CACNA1G_ENST00000507896.1_Silent_p.S2155S|CACNA1G_ENST00000514181.1_Silent_p.S2220S|CACNA1G_ENST00000514717.1_Silent_p.S2188S|CACNA1G_ENST00000512389.1_Silent_p.S2234S|CACNA1G_ENST00000354983.4_Silent_p.S2304S|CACNA1G_ENST00000515411.1_Silent_p.S2275S|CACNA1G_ENST00000359106.5_Silent_p.S2338S|CACNA1G_ENST00000502264.1_Silent_p.S2267S|CACNA1G_ENST00000513964.1_Silent_p.S2200S|CACNA1G_ENST00000503485.1_Silent_p.S2211S	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	2338					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity	p.S2338R(2)|p.S2304R(1)		breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	CTCCGTCCAGCGACTCCAAGG	0.637											OREG0024569	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48703992	C	T	48703992	2	4	724	1	0	0	0	0	0	0	0	1	2570	767	27	1		1	CACNA1G	17	48703992	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	8734567	48703992	32491218	45	55345											
KIF2B	84643	broad.mit.edu	37	chr17	51900882	51900882	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaggagcagcgggaaaagcGcaggcggctgcagcaggaga	12	1	19	9	3	0	1	0	0	0	1	0	4	0	3	0	5	5	6	0	5	2	0			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr17:51900882G>A	ENST00000268919.4	+	1	644	c.488G>A	c.(487-489)cGc>cAc	p.R163H		NM_032559.4	NP_115948.4	Q8N4N8	KIF2B_HUMAN	kinesin family member 2B	163					blood coagulation|cell division|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|microtubule|microtubule organizing center|nucleolus|spindle	ATP binding|microtubule motor activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(15)|lung(58)|ovary(5)|prostate(4)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						CGGGAAAAGCGCAGGCGGCTG	0.547													A	51900882	G	A	51900882	3	1	724	1	0	0	0	0	1	0	0	0	8356	1087	38	1	490	1	KIF2B	17	51900882	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	3196890	51900882	29294328	46	55346											
MUC16	94025	broad.mit.edu	37	chr19	8973984	8973984	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccaccttgtcctggatGtccctcagcagggtgatgta	6	11	11	13	0	1	1	1	1	0	0	3	2	3	2	5	2	2	2	5	2	1	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:8973984G>A	ENST00000397910.4	-	76	42890	c.42687C>T	c.(42685-42687)gaC>gaT	p.D14229D	MUC16_ENST00000380951.5_Silent_p.D870D	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	14292				Missing (in Ref. 3; AAK74120).	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						TGTCCTGGATGTCCCTCAGCA	0.498													A	8973984	G	A	8973984	2	1	724	1	0	0	0	0	0	0	0	1	10049	1368	48	2		2	MUC16	19	8973984	Silent	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08		8973984	50154999	47	55347											
ZNF799	90576	broad.mit.edu	37	chr19	12501697	12501697	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcttacatgtgttacaCtcataaggtttctctcctgt	7	18	6	10	0	3	0	1	0	2	0	5	0	4	0	1	1	2	3	1	1	3	5			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:12501697C>A	ENST00000419318.1	-	4	2168	c.1419G>T	c.(1417-1419)gaG>gaT	p.E473D	CTD-3105H18.14_ENST00000435033.1_Intron|ZNF799_ENST00000430385.3_Missense_Mutation_p.E505D			Q96GE5	ZN799_HUMAN	zinc finger protein 799	505					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(2)|prostate(2)|skin(2)	19						ATGTGTTACACTCATAAGGTT	0.393													A	12501697	C	A	12501697	3	1	724	1	0	0	0	0	1	0	0	0	18265	564	20	4	420	4	ZNF799	19	12501697	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	3527713	12501697	46627286	48	55348											
PRX	57716	broad.mit.edu	37	chr19	40902215	40902215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gacttttggcagctgcacctCggggagtcgaacctctggca	7	9	13	12	2	1	0	0	0	1	0	3	3	1	1	2	4	3	4	2	4	1	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:40902215C>T	ENST00000324001.7	-	7	2314	c.2044G>A	c.(2044-2046)Gag>Aag	p.E682K	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	682	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			AGCTGCACCTCGGGGAGTCGA	0.582													T	40902215	C	T	40902215	3	4	724	1	0	0	0	0	1	0	0	0	12727	893	31	1	2345	1	PRX	19	40902215	Missense_Mutation	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	28400518	40902215	18226768	49	55349											
SLC8A2	6543	broad.mit.edu	37	chr19	47944425	47944425	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cccagaggtgacttcactcaCcttgattgagtagcagagct	10	10	10	11	0	2	5	2	3	0	2	2	5	2	5	2	1	2	3	2	1	1	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr19:47944425C>T	ENST00000236877.6	-	6	2281		c.e6+1		SLC8A2_ENST00000539381.1_Splice_Site|SLC8A2_ENST00000601757.1_Splice_Site|SLC8A2_ENST00000542837.1_Splice_Site	NM_015063.2	NP_055878.1	Q9UPR5	NAC2_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 2						cell communication|platelet activation	integral to membrane|plasma membrane	calcium:sodium antiporter activity|calmodulin binding			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(10)|ovary(2)|prostate(2)|skin(5)|stomach(1)	31		all_cancers(25;3.05e-07)|all_lung(116;4.19e-06)|Lung NSC(112;7.16e-06)|all_epithelial(76;7.65e-06)|all_neural(266;0.0652)|Ovarian(192;0.086)|Breast(70;0.173)		OV - Ovarian serous cystadenocarcinoma(262;0.000501)|all cancers(93;0.00058)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0457)		ACTTCACTCACCTTGATTGAG	0.577													T	47944425	C	T	47944425	5	4	724	1	0	0	0	0	0	0	1	0	14801	521	18	2	899	2	SLC8A2	19	47944425	Splice_Site	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08	7042210	47944425	11184558	50	55350											
PARD6B	84612	broad.mit.edu	37	chr20	49366587	49366587	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atagaagtttcagggaagagCcttgatcaagtaacagacat	16	9	10	6	0	2	4	2	1	0	3	2	5	2	5	1	1	2	2	1	1	5	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:49366587C>T	ENST00000371610.2	+	3	924	c.681C>T	c.(679-681)agC>agT	p.S227S	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	227	Interaction with PARD3 and CDC42 (By similarity).|PDZ.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						CAGGGAAGAGCCTTGATCAAG	0.428													T	49366587	C	T	49366587	2	4	724	1	0	0	0	0	0	0	0	1	11522	738	26	2		2	PARD6B	20	49366587	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		49366587	13658933	51	55351											
PTK6	5753	broad.mit.edu	37	chr20	62164937	62164937	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttaatggccacctggacccGgtctttccagagcccctcga	7	9	9	16	2	1	1	0	0	1	1	3	3	2	2	6	3	1	0	6	3	1	2			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chr20:62164937G>A	ENST00000217185.2	-	4	664	c.637C>T	c.(637-639)Cgg>Tgg	p.R213W	PTK6_ENST00000542869.1_Missense_Mutation_p.R112W	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	213	Protein kinase.					cytoplasm|nucleus	ATP binding|non-membrane spanning protein tyrosine kinase activity			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)			ACCTGGACCCGGTCTTTCCAG	0.657													A	62164937	G	A	62164937	3	1	724	1	0	0	0	0	1	0	0	0	12850	1115	39	1	738	1	PTK6	20	62164937	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	12798350	62164937	860583	52	55352											
ARHGAP6	395	broad.mit.edu	37	chrX	11157235	11157235	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggatccaggctgccgctgcCgcgggcttccctgggcccgg	2	7	16	16	4	0	0	0	0	0	0	2	1	2	1	5	5	2	3	5	5	0	1			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:11157235C>T	ENST00000337414.4	-	13	3545	c.2673G>A	c.(2671-2673)gcG>gcA	p.A891A	ARHGAP6_ENST00000380736.1_Silent_p.A688A|ARHGAP6_ENST00000303025.6_Silent_p.A688A|ARHGAP6_ENST00000534860.1_Intron	NM_013427.2	NP_038286.2	O43182	RHG06_HUMAN	Rho GTPase activating protein 6	891					actin filament polymerization|activation of phospholipase C activity|negative regulation of focal adhesion assembly|negative regulation of stress fiber assembly|Rho protein signal transduction	actin filament|cytosol	phospholipase activator activity|phospholipase binding|Rho GTPase activator activity|SH3 domain binding|SH3/SH2 adaptor activity			cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						CTGCCGCTGCCGCGGGCTTCC	0.701													T	11157235	C	T	11157235	2	4	724	1	0	0	0	0	0	0	0	1	890	639	23	1		1	ARHGAP6	23	11157235	Silent	SNP	C	TCGA-S9-A7J0-01A-11D-A34A-08		11157235	144113325	53	55353											
AR	367	broad.mit.edu	37	chrX	66765161	66765161	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccagtttgctgctgctgcAgcagcagcagcagcagcagc	8	6	13	14	1	0	0	0	0	0	0	0	0	0	0	1	0	11	11	1	0	0	1	rs71905623		TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:66765161A>T	ENST00000374690.3	+	1	697	c.173A>T	c.(172-174)cAg>cTg	p.Q58L	AR_ENST00000396044.3_Missense_Mutation_p.Q58L|AR_ENST00000504326.1_Missense_Mutation_p.Q58L|AR_ENST00000513847.1_3'UTR	NM_000044.3	NP_000035.2	P10275	ANDR_HUMAN	androgen receptor	58	Gln-rich.|Modulating.|Poly-Gln.				cell death|cell growth|cell proliferation|cell-cell signaling|negative regulation of apoptosis|negative regulation of integrin biosynthetic process|positive regulation of cell proliferation|positive regulation of integrin biosynthetic process|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|regulation of establishment of protein localization in plasma membrane|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transport	cytoplasm|nuclear chromatin|nucleoplasm	androgen binding|androgen receptor activity|beta-catenin binding|enzyme binding|ligand-regulated transcription factor activity|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding|zinc ion binding	p.Q58L(2)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|prostate(11)|stomach(2)|upper_aerodigestive_tract(3)	67	all_cancers(1;0.173)|Prostate(1;2.27e-16)|all_epithelial(1;0.102)	all_lung(315;1.3e-11)			Bicalutamide(DB01128)|Cyproterone(DB04839)|Dromostanolone(DB00858)|Finasteride(DB01216)|Fluoxymesterone(DB01185)|Flutamide(DB00499)|Nandrolone(DB00984)|Nilutamide(DB00665)|Oxandrolone(DB00621)|Testosterone(DB00624)	CTGCTGCTgcagcagcagcag	0.667									Androgen Insensitivity Syndrome				T	66765161	A	T	66765161	3	4	724	1	0	0	0	0	1	0	0	0	839	188	7	5	175	5	AR	23	66765161	Missense_Mutation	SNP	A	TCGA-S9-A7J0-01A-11D-A34A-08	55607926	66765161	88505399	54	55354											
RPS6KA6	27330	broad.mit.edu	37	chrX	83352828	83352828	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaaactccagatatcacaaGcagcatcatatccctgttgc	13	10	5	13	0	2	1	2	0	0	1	4	1	4	1	2	0	4	3	2	0	5	4			TCGA-S9-A7J0-01A-11D-A34A-08	TCGA-S9-A7J0-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	365e806d-2141-4e36-a635-a005fbf111e6	ebff37d8-cff8-4ebe-9571-73351b080dc5	g.chrX:83352828G>A	ENST00000262752.2	-	19	1812	c.1805C>T	c.(1804-1806)gCt>gTt	p.A602V	RPS6KA6_ENST00000495332.1_5'UTR|RPS6KA6_ENST00000543399.1_Missense_Mutation_p.A602V	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	602	Protein kinase 2.				axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						GATATCACAAGCAGCATCATA	0.318													A	83352828	G	A	83352828	3	1	724	1	0	0	0	0	1	0	0	0	13746	971	34	2	448	2	RPS6KA6	23	83352828	Missense_Mutation	SNP	G	TCGA-S9-A7J0-01A-11D-A34A-08	16587667	83352828	71917732	55	55355											
FUBP1	8880	broad.mit.edu	37	chr1	78428470	78428471	+	Frame_Shift_Del	DEL	TA	TA	-																															ctcacaccaatcttttcttcTatgagttgccgagcatagtc																										TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:78428470_78428471delTA	ENST00000370767.1	-	14	1415_1416	c.1328_1329delTA	c.(1327-1329)atafs	p.I443fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I464fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I443fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	443	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCTTTTCTTCTATGAGTTGCCG	0.337			"F, N"		oligodendroglioma								-	78428471	TA	-	78428470	7	5	725	1	0	1	0	1	0	0	0	0	6144	1512	53	0	633	0	FUBP1	1	78428470	Frame_Shift_Del	DEL	TA	TCGA-S9-A7J1-01A-21D-A34J-08		78428470	170822151	1	55356											
EFNA3	1944	broad.mit.edu	37	chr1	155058898	155058898	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtccacagaagactttgAgggagagaaccctcaggtgc	11	8	12	10	0	2	4	1	1	1	3	3	6	3	5	2	2	2	0	2	2	2	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:155058898A>G	ENST00000368408.3	+	5	666	c.596A>G	c.(595-597)gAg>gGg	p.E199G	EFNA3_ENST00000556931.1_Missense_Mutation_p.E194G|EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Missense_Mutation_p.E173G|EFNA3_ENST00000505139.1_Missense_Mutation_p.E194G	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	199					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			GAAGACTTTGAGGGAGAGAAC	0.637											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	155058898	A	G	155058898	3	3	725	1	0	0	0	0	1	0	0	0	4991	304	11	3	614	3	EFNA3	1	155058898	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08	76630428	155058898	94191723	2	55357											
UAP1	6675	broad.mit.edu	37	chr1	162560139	162560139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgtggtatatgaagtattgcGagaagatgagttttccccac	11	13	11	6	1	0	4	0	2	0	2	1	5	1	4	2	1	1	3	2	1	5	6	rs146235126		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:162560139G>A	ENST00000271469.3	+	8	1498	c.1196G>A	c.(1195-1197)cGa>cAa	p.R399Q	UAP1_ENST00000367924.1_Missense_Mutation_p.R399Q|UAP1_ENST00000367925.1_Missense_Mutation_p.R399Q|UAP1_ENST00000367926.4_Missense_Mutation_p.R399Q			Q16222	UAP1_HUMAN	UDP-N-acteylglucosamine pyrophosphorylase 1	399					dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|nucleus|plasma membrane	UDP-N-acetylglucosamine diphosphorylase activity			breast(2)|cervix(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(2)|skin(2)|stomach(1)	22	all_hematologic(112;0.115)		BRCA - Breast invasive adenocarcinoma(70;0.126)			GAAGTATTGCGAGAAGATGAG	0.398													A	162560139	G	A	162560139	3	1	725	1	0	0	0	0	1	0	0	0	16927	1058	37	1	1222	1	UAP1	1	162560139	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	7501241	162560139	86690482	3	55358											
PBX1	5087	broad.mit.edu	37	chr1	164532483	164532483	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctttcttgcagaaaacatgCtttaaactgccacagaatga	14	12	6	9	0	2	3	0	1	2	2	2	3	2	3	1	0	5	2	1	0	5	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr1:164532483C>A	ENST00000420696.2	+	2	388	c.200C>A	c.(199-201)gCt>gAt	p.A67D	PBX1_ENST00000559240.1_Missense_Mutation_p.A67D|PBX1_ENST00000401534.1_Missense_Mutation_p.A67D|PBX1_ENST00000367897.1_Missense_Mutation_p.A67D|PBX1_ENST00000540236.1_Missense_Mutation_p.A67D	NM_001204961.1|NM_001204963.1|NM_002585.3	NP_001191890.1|NP_001191892.1|NP_002576.1	P40424	PBX1_HUMAN	pre-B-cell leukemia homeobox 1	67					negative regulation of sequence-specific DNA binding transcription factor activity|sex differentiation|steroid biosynthetic process	cytoplasm|nucleus	sequence-specific DNA binding transcription factor activity|transcription factor binding		EWSR1/PBX1(3)	large_intestine(1)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	4						AGAAAACATGCTTTAAACTGC	0.363			T	"TCF3, EWSR1"	"pre B-ALL, myoepithelioma"								A	164532483	C	A	164532483	3	1	725	1	0	0	0	0	1	0	0	0	11568	797	28	4	206	4	PBX1	1	164532483	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	1972344	164532483	84718138	4	55359											
GREB1	9687	broad.mit.edu	37	chr2	11778832	11778833	+	Frame_Shift_Del	DEL	TT	TT	-																															gtgagctccaggccccactcTttaaacatcagctgctcgga																										TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:11778832_11778833delTT	ENST00000381486.2	+	32	5883_5884	c.5583_5584delTT	c.(5581-5586)tctttafs	p.L1862fs	GREB1_ENST00000396123.1_Frame_Shift_Del_p.L860fs|GREB1_ENST00000234142.5_Frame_Shift_Del_p.L1862fs	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	1862						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		GGCCCCACTCTTTAAACATCAG	0.426													-	11778833	TT	-	11778832	7	5	725	1	0	1	0	1	0	0	0	0	6815	1596	56	0	5813	0	GREB1	2	11778832	Frame_Shift_Del	DEL	TT	TCGA-S9-A7J1-01A-21D-A34J-08		11778832	231420541	5	55360											
ASXL2	55252	broad.mit.edu	37	chr2	25973090	25973094	+	Frame_Shift_Del	DEL	TTCTT	TTCTT	-																															tcaccttggctttcacactcTtcttttctgcctggtgatga																										TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr2:25973090_25973094delTTCTT	ENST00000435504.4	-	12	1624_1628	c.1331_1335delAAGAA	c.(1330-1335)aaagaafs	p.KE444fs	ASXL2_ENST00000272341.4_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000404843.1_Frame_Shift_Del_p.KE184fs|ASXL2_ENST00000336112.4_Frame_Shift_Del_p.KE416fs			Q76L83	ASXL2_HUMAN	additional sex combs like 2 (Drosophila)	444					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|protein binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(7)|pancreas(1)|prostate(4)|skin(3)|urinary_tract(3)	33	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCACACTCTTCTTTTCTGCCTGG	0.473													-	25973094	TTCTT	-	25973090	7	5	725	1	0	1	0	1	0	0	0	0	1072	1606	56	0	2980	0	ASXL2	2	25973090	Frame_Shift_Del	DEL	TTCTT	TCGA-S9-A7J1-01A-21D-A34J-08	14194258	25973090	217226283	6	55361											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	725	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	183140022	209113112	34086261	7	55362											
XIRP1	165904	broad.mit.edu	37	chr3	39225411	39225411	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggaggcggtgggcctcactgGgcagctggctgggagtagct	5	7	20	9	1	1	0	1	0	0	0	1	2	1	2	1	7	2	5	1	7	1	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:39225411G>A	ENST00000340369.3	-	2	5754	c.5526C>T	c.(5524-5526)gcC>gcT	p.A1842A	XIRP1_ENST00000396251.1_3'UTR|XIRP1_ENST00000421646.1_Silent_p.A525A	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1842	Interaction with FLNC.						actin binding			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		GGCCTCACTGGGCAGCTGGCT	0.637													A	39225411	G	A	39225411	2	1	725	1	0	0	0	0	0	0	0	1	17531	1219	43	2		2	XIRP1	3	39225411	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		39225411	158797019	8	55363											
CELSR3	1951	broad.mit.edu	37	chr3	48696782	48696782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tatatgggcattggggccttCgtcagggtccactgcagtga	7	11	14	9	1	1	1	1	1	0	0	3	1	2	1	2	4	1	2	2	4	2	4	rs144228630		TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:48696782C>T	ENST00000544264.1	-	1	3566	c.3286G>A	c.(3286-3288)Gaa>Aaa	p.E1096K	CELSR3_ENST00000164024.4_Missense_Mutation_p.E1096K			Q9NYQ7	CELR3_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 3	1096	Cadherin 8.				homophilic cell adhesion|multicellular organismal development|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(9)|prostate(6)|skin(7)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	83				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		TTGGGGCCTTCGTCAGGGTCC	0.532													T	48696782	C	T	48696782	3	4	725	1	0	0	0	0	1	0	0	0	3253	893	31	1	6792	1	CELSR3	3	48696782	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	9471371	48696782	149325648	9	55364											
PIK3CA	5290	broad.mit.edu	37	chr3	178928078	178928080	+	In_Frame_Del	DEL	AGA	AGA	-																															tggccagtacctcatggattAgaagatttgctgaaccctat																										TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr3:178928078_178928080delAGA	ENST00000263967.3	+	8	1513_1515	c.1356_1358delAGA	c.(1354-1359)ttagaa>tta	p.E453del		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	453	C2 PI3K-type.		E -> Q (in cancer; shows an increase in lipid kinase activity; may disrupt the interaction of the C2 PI3K-type domain with the iSH2 region of the p85 regulatory subunit).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.E453K(11)|p.E453Q(5)|p.H450fs*9(1)|p.E453A(1)|p.P449_L455del(1)|p.G451_L456>V(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CTCATGGATTAGAAGATTTGCTG	0.35		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			-	178928080	AGA	-	178928078	7	5	725	1	0	1	0	1	0	0	0	0	11990	417	15	0	1382	0	PIK3CA	3	178928078	In_Frame_Del	DEL	AGA	TCGA-S9-A7J1-01A-21D-A34J-08	130231296	178928078	19094352	10	55365											
IQGAP2	10788	broad.mit.edu	37	chr5	75871579	75871579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cataccaagaatgatatattGcattcacgcactgaggtagg	14	10	9	8	1	1	3	1	2	0	1	1	3	1	3	1	2	2	3	1	2	6	6			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr5:75871579G>A	ENST00000274364.6	+	5	740	c.443G>A	c.(442-444)tGc>tAc	p.C148Y	IQGAP2_ENST00000379730.3_5'UTR	NM_006633.2	NP_006624	Q13576	IQGA2_HUMAN	IQ motif containing GTPase activating protein 2	148	CH.				small GTPase mediated signal transduction	actin cytoskeleton	actin binding|calmodulin binding|GTPase inhibitor activity|Ras GTPase activator activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(23)|ovary(6)|prostate(1)|skin(3)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	68		all_lung(232;0.000514)|Lung NSC(167;0.00135)|Prostate(461;0.00838)|Ovarian(174;0.0149)		all cancers(79;1.38e-36)		ATGATATATTGCATTCACGCA	0.294													A	75871579	G	A	75871579	3	1	725	1	0	0	0	0	1	0	0	0	7873	1319	46	2	461	2	IQGAP2	5	75871579	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		75871579	105043681	11	55366											
PODXL	5420	broad.mit.edu	37	chr7	131191446	131191446	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggctttgactgctcggcAtatcagtgagatcaatttct	8	14	11	8	1	3	2	2	2	1	1	4	3	3	2	0	3	1	3	0	3	2	3			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr7:131191446A>T	ENST00000541194.1	-	6	1404	c.1147T>A	c.(1147-1149)Tgc>Agc	p.C383S	PODXL_ENST00000537928.1_Missense_Mutation_p.C349S|PODXL_ENST00000378555.3_Missense_Mutation_p.C381S|PODXL_ENST00000322985.9_Missense_Mutation_p.C349S	NM_001018111.2	NP_001018121.1	O00592	PODXL_HUMAN	podocalyxin-like	381					cell adhesion|epithelial tube formation|negative regulation of cell-cell adhesion|positive regulation of cell migration|positive regulation of cell-cell adhesion mediated by integrin|regulation of microvillus assembly	actin cytoskeleton|apical plasma membrane|centrosome|filopodium|integral to plasma membrane|lamellipodium|membrane raft|microvillus membrane|nucleolus|ruffle				NS(1)|breast(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	24	Melanoma(18;0.162)					ACTGCTCGGCATATCAGTGAG	0.587											OREG0018320	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	131191446	A	T	131191446	3	4	725	1	0	0	0	0	1	0	0	0	12257	217	8	5	551	5	PODXL	7	131191446	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		131191446	27947217	12	55367											
CRISPLD1	83690	broad.mit.edu	37	chr8	75937819	75937819	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtatgcaagcaaatccacAttatgctcgtgtaattggaa	13	12	8	8	1	0	0	0	0	0	0	2	1	1	1	1	1	3	5	1	1	6	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:75937819A>G	ENST00000262207.4	+	13	1751	c.1283A>G	c.(1282-1284)cAt>cGt	p.H428R	CRISPLD1_ENST00000523524.1_Missense_Mutation_p.H240R|CRISPLD1_ENST00000517786.1_Missense_Mutation_p.H242R	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	428	LCCL 2.					extracellular region				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GCAAATCCACATTATGCTCGT	0.279													G	75937819	A	G	75937819	3	3	725	1	0	0	0	0	1	0	0	0	3913	217	8	3	1329	3	CRISPLD1	8	75937819	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		75937819	70426203	13	55368											
ARHGAP39	80728	broad.mit.edu	37	chr8	145806482	145806482	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgccacaccgtgcgctgcGtgctggcattgtagtagtag	6	10	15	10	3	0	0	0	0	0	0	0	0	0	0	2	2	4	6	2	2	3	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr8:145806482G>A	ENST00000276826.5	-	2	461	c.260C>T	c.(259-261)aCg>aTg	p.T87M	ARHGAP39_ENST00000377307.2_Missense_Mutation_p.T87M|ARHGAP39_ENST00000540274.1_Missense_Mutation_p.T87M			Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	87	WW 2.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						CGTGCGCTGCGTGCTGGCATT	0.682													A	145806482	G	A	145806482	3	1	725	1	0	0	0	0	1	0	0	0	887	1145	40	1	3124	1	ARHGAP39	8	145806482	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	69868663	145806482	557540	14	55369											
PCSK5	5125	broad.mit.edu	37	chr9	78953152	78953152	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctttggtttcagatattaCgcagacaactccactggccg	9	12	8	12	2	1	2	1	0	0	2	3	2	3	2	3	2	2	2	3	2	3	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr9:78953152C>T	ENST00000545128.1	+	34	5212	c.4674C>T	c.(4672-4674)taC>taT	p.Y1558Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	729					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						TCAGATATTACGCAGACAACT	0.488													T	78953152	C	T	78953152	2	4	725	1	0	0	0	0	0	0	0	1	11679	551	19	1		1	PCSK5	9	78953152	Silent	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		78953152	62260279	15	55370											
AMBP	259	broad.mit.edu	37	chr9	116823806	116823806	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacaggccatggatgtacCattatagaaatacctgctgg	12	10	9	10	0	1	1	1	0	0	1	1	2	1	2	3	3	3	2	3	3	5	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr9:116823806C>T	ENST00000265132.3	-	8	1013	c.751G>A	c.(751-753)Ggt>Agt	p.G251S		NM_001633.3	NP_001624.1	P02760	AMBP_HUMAN	alpha-1-microglobulin/bikunin precursor	251	BPTI/Kunitz inhibitor 1.				cell adhesion|female pregnancy|heme catabolic process|interspecies interaction between organisms|negative regulation of immune response|negative regulation of JNK cascade|protein-chromophore linkage	extracellular region|plasma membrane	calcium channel inhibitor activity|calcium oxalate binding|heme binding|IgA binding|protein homodimerization activity|serine-type endopeptidase inhibitor activity|transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	11					Human Serum Albumin(DB00062)|Serum albumin iodonated(DB00064)	ATGGATGTACCATTATAGAAA	0.557													T	116823806	C	T	116823806	3	4	725	1	0	0	0	0	1	0	0	0	564	594	21	2	319	2	AMBP	9	116823806	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	37870654	116823806	24389625	16	55371											
MUC2	4583	broad.mit.edu	37	chr11	1095756	1095756	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggagtgtgagccgccGcccatgcccacctgctccaa	8	6	12	15	2	0	1	0	1	0	0	1	2	1	2	6	2	3	1	6	2	2	0			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:1095756G>T	ENST00000441003.2	+	33	6294	c.6267G>T	c.(6265-6267)ccG>ccT	p.P2089P	MUC2_ENST00000333592.6_3'UTR|MUC2_ENST00000361558.6_Silent_p.P227P	NM_002457.2	NP_002448.2	Q02817	MUC2_HUMAN	mucin 2, oligomeric mucus/gel-forming	4451						inner mucus layer|outer mucus layer	protein binding			NS(3)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(5)|lung(22)|ovary(2)|prostate(16)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	102		all_cancers(49;1.08e-07)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.191)		BRCA - Breast invasive adenocarcinoma(625;0.000207)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)	Pranlukast(DB01411)	GTGAGCCGCCGCCCATGCCCA	0.657													T	1095756	G	T	1095756	2	4	725	1	0	0	0	0	0	0	0	1	10051	1074	38	4		4	MUC2	11	1095756	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		1095756	133910760	17	55372											
COPB1	1315	broad.mit.edu	37	chr11	14515905	14515905	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaatgatggtcatcagaaGtccaggaagtttttcaccat	13	11	9	8	1	3	2	3	1	0	1	4	4	4	3	2	2	0	1	2	2	3	2			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr11:14515905G>C	ENST00000249923.3	-	3	472	c.172C>G	c.(172-174)Ctt>Gtt	p.L58V	PSMA1_ENST00000419365.2_3'UTR|COPB1_ENST00000439561.2_Missense_Mutation_p.L58V|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	58					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						GTCATCAGAAGTCCAGGAAGT	0.333													C	14515905	G	C	14515905	3	2	725	1	0	0	0	0	1	0	0	0	3759	1029	36	4	2769	4	COPB1	11	14515905	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	13420149	14515905	120490611	18	55373											
SLC26A10	65012	broad.mit.edu	37	chr12	58018904	58018906	+	Splice_Site	DEL	AGG	AGG	-																															gactgcccttctttacttatAggagacttcaaagccagatg																										TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:58018904_58018906delAGG	ENST00000320442.4	+	11	1655_1656	c.1344_1345delAGG	c.(1342-1347)aaagga>aaga	p.G449del	SLC26A10_ENST00000379218.2_3'UTR|SLC26A10_ENST00000490243.1_3'UTR	NM_133489.2	NP_597996.2	Q8NG04	S2610_HUMAN	solute carrier family 26, member 10	449	STAS.					integral to membrane	antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|lung(7)	19	Melanoma(17;0.122)					CTTTACTTATAGGAGACTTCAAA	0.532													-	58018906	AGG	-	58018904	8	5	725	1	0	1	0	1	0	0	1	0	14609	434	15	0	1385	0	SLC26A10	12	58018904	Splice_Site	DEL	AGG	TCGA-S9-A7J1-01A-21D-A34J-08		58018904	75832991	19	55374											
APAF1	317	broad.mit.edu	37	chr12	99059486	99059486	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagatgaagccatgtctataAgtgttgaaatgctcagagaa	15	11	10	5	0	2	4	1	2	1	2	2	5	2	4	1	0	2	2	1	0	6	4			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:99059486A>T	ENST00000357310.1	+	8	1688	c.1111A>T	c.(1111-1113)Agt>Tgt	p.S371C	APAF1_ENST00000551964.1_Missense_Mutation_p.S371C|APAF1_ENST00000552268.1_Intron|APAF1_ENST00000547045.1_Missense_Mutation_p.S371C|APAF1_ENST00000550527.1_Missense_Mutation_p.S360C|APAF1_ENST00000359972.2_Missense_Mutation_p.S360C|APAF1_ENST00000339433.3_Missense_Mutation_p.S371C|APAF1_ENST00000333991.1_Intron|APAF1_ENST00000549007.1_Missense_Mutation_p.S371C	NM_181868.1	NP_863658.1	O14727	APAF_HUMAN	apoptotic peptidase activating factor 1	371	NB-ARC.				activation of caspase activity by cytochrome c|defense response|induction of apoptosis by intracellular signals|nervous system development	cytosol|Golgi apparatus|nucleus	ATP binding|caspase activator activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(1)	42					Adenosine triphosphate(DB00171)	CATGTCTATAAGTGTTGAAAT	0.383													T	99059486	A	T	99059486	3	4	725	1	0	0	0	0	1	0	0	0	757	72	3	5	1137	5	APAF1	12	99059486	Missense_Mutation	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08	41040582	99059486	34792409	20	55375											
CLIP1	6249	broad.mit.edu	37	chr12	122862135	122862135	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaagacaccatgctggccGtagaagtgcacagcggtgaa	13	5	14	9	2	0	3	0	1	0	2	0	4	0	4	2	3	3	3	2	3	4	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr12:122862135G>A	ENST00000358808.2	-	3	612	c.458C>T	c.(457-459)aCg>aTg	p.T153M	CLIP1_ENST00000361654.4_Missense_Mutation_p.T153M|CLIP1_ENST00000537178.1_Missense_Mutation_p.T153M|CLIP1_ENST00000540338.1_Missense_Mutation_p.T153M|CLIP1_ENST00000302528.7_Missense_Mutation_p.T153M	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	153	Ser-rich.				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CATGCTGGCCGTAGAAGTGCA	0.557													A	122862135	G	A	122862135	3	1	725	1	0	0	0	0	1	0	0	0	3563	1145	40	1	3917	1	CLIP1	12	122862135	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	23802649	122862135	10989760	21	55376											
SLITRK5	26050	broad.mit.edu	37	chr13	88327979	88327979	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggggcttcaattttgcatctAggtagcaatgttatccagga	10	13	11	7	0	2	0	1	0	1	0	3	1	3	1	1	4	2	5	1	4	5	6			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:88327979A>T	ENST00000325089.6	+	2	555	c.336A>T	c.(334-336)ctA>ctT	p.L112L	SLITRK5_ENST00000400028.3_Intron	NM_015567.1	NP_056382.1	O94991	SLIK5_HUMAN	SLIT and NTRK-like family, member 5	112						integral to membrane				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(14)|lung(40)|ovary(2)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(4)	81	all_neural(89;0.101)|Medulloblastoma(90;0.163)					TTTTGCATCTAGGTAGCAATG	0.458													T	88327979	A	T	88327979	2	4	725	1	0	0	0	0	0	0	0	1	14840	407	15	5		5	SLITRK5	13	88327979	Silent	SNP	A	TCGA-S9-A7J1-01A-21D-A34J-08		88327979	26841899	22	55377											
SLC10A2	6555	broad.mit.edu	37	chr13	103710695	103710695	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacagcggcatcattcCgagggcaagcagtgtggagc	10	5	16	10	2	1	0	1	0	0	0	2	3	2	1	1	4	3	4	1	4	1	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr13:103710695C>T	ENST00000245312.3	-	2	1011	c.415G>A	c.(415-417)Gga>Aga	p.G139R		NM_000452.2	NP_000443	Q12908	NTCP2_HUMAN	solute carrier family 10 (sodium/bile acid cotransporter), member 2	139					bile acid metabolic process|organic anion transport	integral to plasma membrane	bile acid:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_neural(89;0.0662)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					GGCATCATTCCGAGGGCAAGC	0.473													T	103710695	C	T	103710695	3	4	725	1	0	0	0	0	1	0	0	0	14468	661	23	1	651	1	SLC10A2	13	103710695	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	15382716	103710695	11459183	23	55378											
CHRFAM7A	89832	broad.mit.edu	37	chr15	30664498	30664498	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtgacatcagggtagggCtctttgcagcactcatagaa	12	9	12	8	0	3	2	2	1	1	1	3	2	3	2	0	3	2	4	0	3	4	3			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:30664498C>A	ENST00000397827.3	-	6	876	c.102G>T	c.(100-102)gaG>gaT	p.E34D	CHRFAM7A_ENST00000401522.3_Missense_Mutation_p.E34D|CHRFAM7A_ENST00000299847.2_Missense_Mutation_p.E125D	NM_148911.1	NP_683709.1	Q494W8	CRFM7_HUMAN	CHRNA7 (cholinergic receptor, nicotinic, alpha 7, exons 5-10) and FAM7A (family with sequence similarity 7A, exons A-E) fusion	125						integral to membrane|postsynaptic membrane	extracellular ligand-gated ion channel activity			large_intestine(3)|lung(1)|skin(2)	6		all_lung(180;3.42e-11)|Breast(32;0.000153)		all cancers(64;1.9e-15)|Epithelial(43;3.59e-12)|GBM - Glioblastoma multiforme(186;9e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)|Lung(196;0.153)		CAGGGTAGGGCTCTTTGCAGC	0.542													A	30664498	C	A	30664498	3	1	725	1	0	0	0	0	1	0	0	0	3405	796	28	4	879	4	CHRFAM7A	15	30664498	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		30664498	71866894	24	55379											
KIF23	9493	broad.mit.edu	37	chr15	69727846	69727846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattaatcagtcactaatgaCgctaagaacatgtatggatg	15	12	8	6	1	2	2	2	1	0	1	2	3	2	3	0	1	1	2	0	1	6	5			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:69727846C>T	ENST00000260363.4	+	11	1214	c.1097C>T	c.(1096-1098)aCg>aTg	p.T366M	KIF23_ENST00000559279.1_Missense_Mutation_p.T366M|KIF23_ENST00000395392.2_Missense_Mutation_p.T366M|KIF23_ENST00000537891.1_Missense_Mutation_p.T183M|KIF23_ENST00000558585.1_Missense_Mutation_p.T183M|KIF23_ENST00000352331.4_Missense_Mutation_p.T366M	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	366					blood coagulation|cytokinesis|microtubule-based movement|mitosis|mitotic spindle elongation	cytosol|kinesin complex|microtubule|midbody|nucleoplasm|spindle	ATP binding|microtubule motor activity|protein binding			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TCACTAATGACGCTAAGAACA	0.353													T	69727846	C	T	69727846	3	4	725	1	0	0	0	0	1	0	0	0	8349	536	19	1	1139	1	KIF23	15	69727846	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08	39063348	69727846	32803546	25	55380											
FES	2242	broad.mit.edu	37	chr15	91433669	91433669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggaaggacacccacgctggaGatccttaagagccacatctc	12	6	10	13	1	1	2	0	0	1	2	3	5	2	4	3	3	1	1	3	3	2	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr15:91433669G>C	ENST00000328850.3	+	10	1417	c.1275G>C	c.(1273-1275)gaG>gaC	p.E425D	FES_ENST00000448367.1_3'UTR|FES_ENST00000450438.2_Missense_Mutation_p.E367D|FES_ENST00000444422.2_Missense_Mutation_p.E425D|FES_ENST00000414248.2_Missense_Mutation_p.E367D|FES_ENST00000394302.1_Missense_Mutation_p.E367D|FES_ENST00000394300.3_Missense_Mutation_p.E367D	NM_002005.3	NP_001996.1	P07332	FES_HUMAN	feline sarcoma oncogene	425					axon guidance|cell proliferation|peptidyl-tyrosine phosphorylation	cytosol	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			lung(2)|ovary(1)	3	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.229)			CCACGCTGGAGATCCTTAAGA	0.612													C	91433669	G	C	91433669	3	2	725	1	0	0	0	0	1	0	0	0	5869	933	33	4	1309	4	FES	15	91433669	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	21705823	91433669	11097723	26	55381											
HYDIN	54768	broad.mit.edu	37	chr16	70917932	70917932	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacactttcccatggcGtcagccacacagtcaacgtt	9	10	6	16	2	3	0	3	0	0	0	5	0	5	0	3	1	2	1	3	1	1	2	rs141625832	by1000genomes	TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr16:70917932G>A	ENST00000393567.2	-	59	10020	c.9870C>T	c.(9868-9870)gaC>gaT	p.D3290D		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3290										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCCCATGGCGTCAGCCACAC	0.567													A	70917932	G	A	70917932	2	1	725	1	0	0	0	0	0	0	0	1	7525	1136	40	1		1	HYDIN	16	70917932	Silent	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		70917932	19436821	27	55382											
TOP3A	7156	broad.mit.edu	37	chr17	18181116	18181116	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtccgtgtgacggagggctgGctgcaaaggcaggatgtgcc	7	7	18	9	2	0	1	0	1	0	0	1	3	1	3	2	5	2	4	2	5	1	0			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr17:18181116G>T	ENST00000321105.5	-	18	2914	c.2700C>A	c.(2698-2700)agC>agA	p.S900R	TOP3A_ENST00000542570.1_Missense_Mutation_p.S805R|TOP3A_ENST00000540524.1_Missense_Mutation_p.S430R	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	900	2 X 27 AA approximate repeats.				DNA topological change|meiosis	chromosome|PML body	ATP binding|DNA topoisomerase type I activity|protein binding|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						CGGAGGGCTGGCTGCAAAGGC	0.622													T	18181116	G	T	18181116	3	4	725	1	0	0	0	0	1	0	0	0	16468	1194	42	4	313	4	TOP3A	17	18181116	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08		18181116	63014094	28	55383											
CIC	23152	broad.mit.edu	37	chr19	42797980	42797981	+	Frame_Shift_Del	DEL	TG	TG	-																															ctgaagaagacctttgactcTgtggacaagtgagcatgggc																										TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:42797980_42797981delTG	ENST00000572681.2	+	17	6821_6822	c.6753_6754delTG	c.(6751-6756)tctgtgfs	p.V2252fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1345fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1343fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1345					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCTTTGACTCTGTGGACAAGTG	0.693			"Mis, F, S"		oligodendroglioma								-	42797981	TG	-	42797980	7	5	725	1	0	1	0	1	0	0	0	0	3454	1567	55	0	4094	0	CIC	19	42797980	Frame_Shift_Del	DEL	TG	TCGA-S9-A7J1-01A-21D-A34J-08		42797980	16331003	29	55384											
ZNF324	25799	broad.mit.edu	37	chr19	58982998	58982998	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgtggccgccgcttctgccGcaactcgcacctgatccagc	5	8	11	17	4	1	1	0	1	1	0	3	1	2	1	5	1	3	3	5	1	1	1			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr19:58982998G>A	ENST00000536459.2	+	4	1848	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	ZNF324_ENST00000196482.3_Missense_Mutation_p.R380H|ZNF324_ENST00000535298.1_Missense_Mutation_p.R157H			O75467	Z324A_HUMAN	zinc finger protein 324	380					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(2)|prostate(2)|urinary_tract(2)	16		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		CGCTTCTGCCGCAACTCGCAC	0.657													A	58982998	G	A	58982998	3	1	725	1	0	0	0	0	1	0	0	0	17945	1087	38	1	1149	1	ZNF324	19	58982998	Missense_Mutation	SNP	G	TCGA-S9-A7J1-01A-21D-A34J-08	16185018	58982998	145985	30	55385											
NPBWR2	2832	broad.mit.edu	37	chr20	62737689	62737689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccagacacacaggctggCgaccttcgccccccggtagg	8	4	12	17	3	0	1	0	0	0	1	1	2	0	1	5	4	1	2	5	4	1	2			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr20:62737689C>T	ENST00000369768.1	-	1	835	c.496G>A	c.(496-498)Gcc>Acc	p.A166T		NM_005286.2	NP_005277.2	P48146	NPBW2_HUMAN	neuropeptides B/W receptor 2	166						plasma membrane	opioid receptor activity|protein binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(38;2.58e-11)|all_epithelial(29;6.4e-13)|Lung NSC(23;1.25e-09)|all_lung(23;4.21e-09)					CACAGGCTGGCGACCTTCGCC	0.647													T	62737689	C	T	62737689	3	4	725	1	0	0	0	0	1	0	0	0	10645	768	27	1	508	1	NPBWR2	20	62737689	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		62737689	287831	31	55386											
RIBC2	26150	broad.mit.edu	37	chr22	45826809	45826809	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaagaaaagcgccagcgagaCctggactgggaccggcggag	12	2	17	10	4	0	2	0	0	0	2	0	7	0	5	3	4	2	0	3	4	3	0			TCGA-S9-A7J1-01A-21D-A34J-08	TCGA-S9-A7J1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	62d732f2-263a-4721-966c-18984791f8f2	789b7dd2-8169-4519-839d-8f7b66213675	g.chr22:45826809C>G	ENST00000342894.3	+	6	1128	c.714C>G	c.(712-714)gaC>gaG	p.D238E	RIBC2_ENST00000466226.1_3'UTR|RIBC2_ENST00000538017.1_Missense_Mutation_p.D306E			Q9H4K1	RIBC2_HUMAN	RIB43A domain with coiled-coils 2	238										NS(1)|endometrium(1)|kidney(2)|large_intestine(3)|skin(2)|urinary_tract(1)	10		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)		GCCAGCGAGACCTGGACTGGG	0.642													G	45826809	C	G	45826809	3	3	725	1	0	0	0	0	1	0	0	0	13442	506	18	4	939	4	RIBC2	22	45826809	Missense_Mutation	SNP	C	TCGA-S9-A7J1-01A-21D-A34J-08		45826809	5477757	32	55387											
HMGCS2	3158	broad.mit.edu	37	chr1	120302572	120302572	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgagcattaccactgggAtagacggcaatgtctccaca	12	7	11	11	2	1	1	0	0	1	1	2	4	1	3	2	3	2	2	2	3	3	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr1:120302572A>T	ENST00000369406.3	-	3	649	c.600T>A	c.(598-600)taT>taA	p.Y200*	HMGCS2_ENST00000544913.2_Intron|HMGCS2_ENST00000476640.1_5'UTR	NM_005518.3	NP_005509.1	P54868	HMCS2_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 2 (mitochondrial)	200					acetoacetic acid biosynthetic process|cholesterol biosynthetic process|isoprenoid biosynthetic process|ketone body biosynthetic process	mitochondrial matrix	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(1)|lung(13)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	28	all_cancers(5;6.38e-10)|all_epithelial(5;1.1e-10)|Melanoma(3;1.93e-05)|Breast(55;0.218)|all_neural(166;0.219)	all_lung(203;1.29e-06)|Lung NSC(69;9.35e-06)|all_epithelial(167;0.00124)		Lung(183;0.0112)|LUSC - Lung squamous cell carcinoma(189;0.0595)		TACCACTGGGATAGACGGCAA	0.517													T	120302572	A	T	120302572	4	4	726	1	0	0	0	0	0	1	0	0	7288	340	12	5	954	5	HMGCS2	1	120302572	Nonsense_Mutation	SNP	A	TCGA-S9-A7J2-01A-11D-A34A-08		120302572	128948049	1	55388											
KLHL23	151230	broad.mit.edu	37	chr2	170592131	170592131	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aagaagaagctatcatagagCcagttattaagtggactgct	15	10	10	6	0	1	3	1	0	0	3	1	4	1	4	1	1	3	3	1	1	7	4			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:170592131C>A	ENST00000392647.2	+	2	851	c.607C>A	c.(607-609)Cca>Aca	p.P203T	KLHL23_ENST00000272797.4_Missense_Mutation_p.P203T|KLHL23_ENST00000602521.1_Intron	NM_144711.5	NP_653312.2	Q8NBE8	KLH23_HUMAN	kelch-like family member 23	203	BACK.									breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	16						TATCATAGAGCCAGTTATTAA	0.353													A	170592131	C	A	170592131	3	1	726	1	0	0	0	0	1	0	0	0	8436	739	26	4	609	4	KLHL23	2	170592131	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		170592131	72607242	2	55389											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	726	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08	38520981	209113112	34086261	3	55390											
AGAP1	116987	broad.mit.edu	37	chr2	236706492	236706492	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attctcccagccattcctccGtctgttccgcgcaggtgtct	4	13	8	16	3	3	0	0	0	3	0	7	0	6	0	5	1	1	2	5	1	0	3			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr2:236706492G>A	ENST00000304032.8	+	7	1343	c.763G>A	c.(763-765)Gtc>Atc	p.V255I	AGAP1_ENST00000409538.1_Missense_Mutation_p.V520I|AGAP1_ENST00000336665.5_Missense_Mutation_p.V255I|AGAP1_ENST00000428334.2_Missense_Mutation_p.V94I|AGAP1_ENST00000409457.1_Missense_Mutation_p.V255I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CCATTCCTCCGTCTGTTCCGC	0.512													A	236706492	G	A	236706492	3	1	726	1	0	0	0	0	1	0	0	0	366	1145	40	1	789	1	AGAP1	2	236706492	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	27593380	236706492	6492881	4	55391											
CADPS	8618	broad.mit.edu	37	chr3	62751626	62751626	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaggaaagcctgaaaccGgtccttgactgtctgcagct	10	10	11	10	1	1	3	0	3	1	0	2	4	2	4	3	2	4	2	3	2	2	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr3:62751626G>A	ENST00000383710.4	-	2	824	c.475C>T	c.(475-477)Cgg>Tgg	p.R159W	CADPS_ENST00000283269.9_Missense_Mutation_p.R159W|CADPS_ENST00000357948.3_Missense_Mutation_p.R159W|CADPS_ENST00000490353.2_Missense_Mutation_p.R159W	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	159					exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		GCCTGAAACCGGTCCTTGACT	0.453													A	62751626	G	A	62751626	3	1	726	1	0	0	0	0	1	0	0	0	2596	1115	39	1	3775	1	CADPS	3	62751626	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		62751626	135270804	5	55392											
RBM47	54502	broad.mit.edu	37	chr4	40440030	40440030	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgttcatggcatgcacgGcatcctcgcggctggtgaag	6	10	15	10	3	1	1	1	1	0	0	3	1	2	1	1	5	1	6	1	5	1	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr4:40440030G>A	ENST00000319592.4	-	4	1590	c.881C>T	c.(880-882)gCc>gTc	p.A294V	RBM47_ENST00000381795.6_Missense_Mutation_p.A294V|RBM47_ENST00000514014.1_Missense_Mutation_p.A256V|RBM47_ENST00000295971.7_Missense_Mutation_p.A294V|RBM47_ENST00000381793.2_Missense_Mutation_p.A294V|RBM47_ENST00000515809.1_Intron			A0AV96	RBM47_HUMAN	RNA binding motif protein 47	294	RRM 3.					nucleus	nucleotide binding|RNA binding			breast(5)|endometrium(1)|kidney(3)|large_intestine(2)|lung(9)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	29						GGCATGCACGGCATCCTCGCG	0.622													A	40440030	G	A	40440030	3	1	726	1	0	0	0	0	1	0	0	0	13229	1203	42	2	916	2	RBM47	4	40440030	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		40440030	150714246	6	55393											
EDN1	1906	broad.mit.edu	37	chr6	12296198	12296198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttatcttgctttattaggtcGgagaccatgagaaacagcgt	11	13	10	7	2	1	2	0	1	1	2	2	4	1	2	1	2	3	1	1	2	4	5			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:12296198G>A	ENST00000379375.5	+	5	804	c.537G>A	c.(535-537)tcG>tcA	p.S179S		NM_001168319.1|NM_001955.4	NP_001161791.1|NP_001946.3	P05305	EDN1_HUMAN	endothelin 1	179					artery smooth muscle contraction|calcium-mediated signaling|leukocyte activation|negative regulation of blood coagulation|negative regulation of cellular protein metabolic process|negative regulation of nitric-oxide synthase biosynthetic process|negative regulation of transcription from RNA polymerase II promoter|nitric oxide transport|peptide hormone secretion|phosphatidylinositol 3-kinase cascade|positive regulation of cardiac muscle hypertrophy|positive regulation of cell size|positive regulation of endothelial cell migration|positive regulation of heart rate|positive regulation of hormone secretion|positive regulation of JUN kinase activity|positive regulation of mitosis|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin-endoperoxide synthase activity|positive regulation of sarcomere organization|positive regulation of smooth muscle cell proliferation|prostaglandin biosynthetic process|protein kinase C deactivation|regulation of systemic arterial blood pressure by endothelin|regulation of vasoconstriction|vein smooth muscle contraction	cytoplasm|extracellular space	cytokine activity|endothelin A receptor binding|endothelin B receptor binding|hormone activity	p.S179S(1)		endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	13	all_cancers(95;0.241)|Breast(50;0.0266)|Ovarian(93;0.12)	all_hematologic(90;0.117)				TTATTAGGTCGGAGACCATGA	0.393													A	12296198	G	A	12296198	2	1	726	1	0	0	0	0	0	0	0	1	4955	1103	39	1		1	EDN1	6	12296198	Silent	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		12296198	158818869	7	55394											
TCP10	6953	broad.mit.edu	37	chr6	167796320	167796320	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatctccccggcattgctGtcctccctggggacctcggc	3	9	12	17	2	1	0	0	0	1	0	5	1	3	1	5	5	1	3	5	5	0	1			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr6:167796320G>A	ENST00000366827.2	-	2	253	c.42C>T	c.(40-42)gaC>gaT	p.D14D	TCP10_ENST00000397829.4_Silent_p.D14D|TCP10_ENST00000476779.2_Silent_p.D14D			Q12799	TCP10_HUMAN	t-complex 10	41						cytosol				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(2)|lung(6)	18		Breast(66;1.53e-05)|Ovarian(120;0.024)		OV - Ovarian serous cystadenocarcinoma(33;4.05e-20)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)|GBM - Glioblastoma multiforme(31;0.0386)		CGGCATTGCTGTCCTCCCTGG	0.652													A	167796320	G	A	167796320	2	1	726	1	0	0	0	0	0	0	0	1	15810	1368	48	2		2	TCP10	6	167796320	Silent	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	155500122	167796320	3318747	8	55395											
LMOD2	442721	broad.mit.edu	37	chr7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-																															tttctgaggaagtgtatacaGaggaggaggaggaggagtcc																										TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton	actin binding|tropomyosin binding										AGTGTATACAgaggaggaggagg	0.409													-	123301997	GAG	-	123301995	7	5	726	1	0	1	0	1	0	0	0	0	8918	943	33	0	361	0	LMOD2	7	123301995	In_Frame_Del	DEL	GAG	TCGA-S9-A7J2-01A-11D-A34A-08		123301995	35836668	9	55396											
MUC5B	727897	broad.mit.edu	37	chr11	1266182	1266182	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggtactcccccatcactgaCcaccacggccactacgatca	10	7	6	18	2	2	1	2	1	0	0	3	2	3	1	5	2	2	1	5	2	2	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:1266182C>T	ENST00000447027.1	+	31	8139	c.8081C>T	c.(8080-8082)aCc>aTc	p.T2694I	MUC5B_ENST00000529681.1_Missense_Mutation_p.T2691I|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	2691	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		ccatcactgaccaccacggcc	0.622													T	1266182	C	T	1266182	3	4	726	1	0	0	0	0	1	0	0	0	10055	507	18	2	8203	2	MUC5B	11	1266182	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		1266182	133740334	10	55397											
RNF214	257160	broad.mit.edu	37	chr11	117153161	117153161	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcagcagatcaagacagcacGtaccaccatggcaggcctga	13	5	10	13	1	2	3	2	1	0	2	2	3	2	3	3	2	3	4	3	2	2	1			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr11:117153161G>A	ENST00000530849.1	+	11	1299	c.1289G>A	c.(1288-1290)cGt>cAt	p.R430H	RNF214_ENST00000300650.4_Missense_Mutation_p.R585H|RNF214_ENST00000524917.1_3'UTR|RNF214_ENST00000531287.1_Missense_Mutation_p.R430H|RNF214_ENST00000531452.1_Missense_Mutation_p.R585H			Q8ND24	RN214_HUMAN	ring finger protein 214	585							zinc ion binding			cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	23	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.88e-05)|Epithelial(105;0.000397)|all cancers(92;0.00258)		AAGACAGCACGTACCACCATG	0.517													A	117153161	G	A	117153161	3	1	726	1	0	0	0	0	1	0	0	0	13569	1145	40	1	1796	1	RNF214	11	117153161	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08	115886979	117153161	17853355	11	55398											
ANO6	196527	broad.mit.edu	37	chr12	45741926	45741926	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acccaatgatctgaaaaaccGgtcctcagcctttggtacac	12	9	7	13	1	2	2	1	2	1	0	3	2	3	2	4	2	3	1	4	2	4	2			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:45741926G>A	ENST00000320560.8	+	5	663	c.461G>A	c.(460-462)cGg>cAg	p.R154Q	ANO6_ENST00000423947.3_Missense_Mutation_p.R175Q|ANO6_ENST00000426898.2_3'UTR|ANO6_ENST00000435642.1_Missense_Mutation_p.R154Q|ANO6_ENST00000441606.2_Missense_Mutation_p.R136Q|ANO6_ENST00000425752.2_Missense_Mutation_p.R154Q	NM_001025356.2	NP_001020527.2	Q4KMQ2	ANO6_HUMAN	anoctamin 6	154					activation of blood coagulation via clotting cascade|phosphatidylserine exposure on blood platelet	chloride channel complex|plasma membrane	chloride channel activity			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	46						CTGAAAAACCGGTCCTCAGCC	0.438													A	45741926	G	A	45741926	3	1	726	1	0	0	0	0	1	0	0	0	701	1116	39	1	499	1	ANO6	12	45741926	Missense_Mutation	SNP	G	TCGA-S9-A7J2-01A-11D-A34A-08		45741926	88109969	12	55399											
COL2A1	1280	broad.mit.edu	37	chr12	48380873	48380873	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctcttaccgtctgacctttCgggcccagaggaccagttgc	6	10	11	14	2	2	2	0	1	2	1	3	3	2	3	4	2	2	2	4	2	1	3			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr12:48380873C>T	ENST00000380518.3	-	21	1517	c.1353G>A	c.(1351-1353)ccG>ccA	p.P451P	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.P382P	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	451	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	TCTGACCTTTCGGGCCCAGAG	0.622													T	48380873	C	T	48380873	2	4	726	1	0	0	0	0	0	0	0	1	3718	871	31	1		1	COL2A1	12	48380873	Silent	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08	2638947	48380873	85471022	13	55400											
CILP	8483	broad.mit.edu	37	chr15	65491077	65491077	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtagccagtcatgcttacaCggctgttccccatgtacaca	9	11	8	13	1	1	0	1	0	0	0	2	0	2	0	3	1	4	5	3	1	3	4			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr15:65491077C>T	ENST00000261883.4	-	9	1713	c.1547G>A	c.(1546-1548)cGt>cAt	p.R516H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	516					negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATGCTTACACGGCTGTTCCC	0.582													T	65491077	C	T	65491077	3	4	726	1	0	0	0	0	1	0	0	0	3459	536	19	1	2011	1	CILP	15	65491077	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		65491077	37040315	14	55401											
PRKCB	5579	broad.mit.edu	37	chr16	23848694	23848694	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acacctccttctgcttttgcAggggcttcgggaagcaggga	7	10	13	11	1	1	0	0	0	1	0	3	2	2	2	2	4	3	4	2	4	1	4			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr16:23848694A>G	ENST00000303531.7	+	2	325		c.e2-1		PRKCB_ENST00000498058.1_Intron|PRKCB_ENST00000321728.7_Splice_Site	NM_002738.6	NP_002729.2	P05771	KPCB_HUMAN	protein kinase C, beta						apoptosis|B cell activation|B cell receptor signaling pathway|intracellular signal transduction|lipoprotein transport|platelet activation|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|synaptic transmission|transcription, DNA-dependent	cytosol|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|histone binding|histone kinase activity (H3-T6 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|zinc ion binding			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Vitamin E(DB00163)	CTGCTTTTGCAGGGGCTTCGG	0.567													G	23848694	A	G	23848694	5	3	726	1	0	0	0	0	0	0	1	0	12594	202	7	3	178	3	PRKCB	16	23848694	Splice_Site	SNP	A	TCGA-S9-A7J2-01A-11D-A34A-08		23848694	66506059	15	55402											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	10	5	13	13	3	0	2	0	1	0	1	2	4	1	3	4	4	2	0	4	4	2	1			TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000160740.3_Missense_Mutation_p.R201W|CIC_ENST00000575354.2_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								T	42791715	C	T	42791715	3	4	726	1	0	0	0	0	1	0	0	0	3454	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-S9-A7J2-01A-11D-A34A-08		42791715	16337268	16	55403											
BCORL1	63035	broad.mit.edu	37	chrX	129155055	129155055	+	Frame_Shift_Del	DEL	G	G	-																															cacaatggagtcaggggaaaGcacaagcaccggaagccgac																										TCGA-S9-A7J2-01A-11D-A34A-08	TCGA-S9-A7J2-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	41ec5804-ccd5-4a03-b250-4936b783ad4a	9807aded-c9bc-4500-b7ba-32967f7019df	g.chrX:129155055delG	ENST00000540052.1	+	4	3581	c.3537delG	c.(3535-3537)aagfs	p.K1179fs	BCORL1_ENST00000303743.5_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000359304.2_Frame_Shift_Del_p.K1179fs|BCORL1_ENST00000218147.7_Frame_Shift_Del_p.K1179fs	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	1179					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						TCAGGGGAAAGCACAAGCACC	0.622													-	129155055	G	-	129155055	7	5	726	1	0	1	0	1	0	0	0	0	1392	962	34	0	3551	0	BCORL1	23	129155055	Frame_Shift_Del	DEL	G	TCGA-S9-A7J2-01A-11D-A34A-08		129155055	26115505	17	55404											
AHDC1	27245	broad.mit.edu	37	chr1	27877971	27877971	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagacccgtggccgcagccGtggctccgggactatggcct	5	6	15	15	4	0	1	0	0	0	1	1	2	1	2	5	4	1	3	5	4	1	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:27877971G>A	ENST00000374011.2	-	6	1624	c.656C>T	c.(655-657)aCg>aTg	p.T219M	AHDC1_ENST00000247087.5_Missense_Mutation_p.T219M	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	219	Pro-rich.						DNA binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GGCCGCAGCCGTGGCTCCGGG	0.652													A	27877971	G	A	27877971	3	1	727	1	0	0	0	0	1	0	0	0	412	1145	40	1	4159	1	AHDC1	1	27877971	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		27877971	221372650	1	55405											
FUBP1	8880	broad.mit.edu	37	chr1	78430433	78430433	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacaccatttccttggcttgCtaaagcagaaaaagttagct	14	11	7	9	0	0	1	0	0	0	1	1	1	1	1	2	1	4	5	2	1	6	5			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430433C>T	ENST00000370767.1	-	10	823		c.e10-1		FUBP1_ENST00000436586.2_Splice_Site|FUBP1_ENST00000370768.2_Splice_Site			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1						transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CCTTGGCTTGCTAAAGCAGAA	0.373			"F, N"		oligodendroglioma								T	78430433	C	T	78430433	5	4	727	1	0	0	0	0	0	0	1	0	6144	811	28	2	1243	2	FUBP1	1	78430433	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	50552462	78430433	170820188	2	55406											
FUBP1	8880	broad.mit.edu	37	chr1	78430905	78430906	+	Frame_Shift_Ins	INS	-	-	T																															acaatctggtccagtaaccgINSttttgctgacctgttaacaa																										TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:78430905_78430906insT	ENST00000370767.1	-	8	570_571	c.483_484insA	c.(481-486)aaacggfs	p.R162fs	FUBP1_ENST00000370768.2_Frame_Shift_Ins_p.R162fs|FUBP1_ENST00000436586.2_Frame_Shift_Ins_p.R183fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	162	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						TCCAGTAACCGTTTTGCTGACC	0.381			"F, N"		oligodendroglioma								T	78430906	-	T	78430905	7	5	727	1	0	1	1	0	0	0	0	0	6144	1144	40	0	1502	0	FUBP1	1	78430905	Frame_Shift_Ins	INS	-	TCGA-S9-A7J3-01A-21D-A34J-08	472	78430905	170819716	3	55407											
PTPN7	5778	broad.mit.edu	37	chr1	202124738	202124738	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagacacggctctggggatCtaggaaataaaaatcagcag	16	6	11	8	1	3	1	1	0	2	1	3	3	3	3	0	4	1	2	0	4	5	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:202124738C>T	ENST00000309017.3	-	5	1480		c.e5-1		PTPN7_ENST00000367279.4_Splice_Site|PTPN7_ENST00000308986.5_Splice_Site|PTPN7_ENST00000543735.1_Splice_Site|PTPN7_ENST00000544762.1_Intron|PTPN7_ENST00000492977.1_Splice_Site	NM_001199797.1|NM_002832.3	NP_001186726.1|NP_002823.3	P35236	PTN7_HUMAN	protein tyrosine phosphatase, non-receptor type 7							cytosol|internal side of plasma membrane	protein binding|protein tyrosine phosphatase activity	p.?(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|skin(1)|soft_tissue(1)|urinary_tract(1)	13						CTCTGGGGATCTAGGAAATAA	0.527													T	202124738	C	T	202124738	5	4	727	1	0	0	0	0	0	0	1	0	12881	927	32	2	715	2	PTPN7	1	202124738	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	123693833	202124738	47125883	4	55408											
PM20D1	148811	broad.mit.edu	37	chr1	205819111	205819111	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacgccctttgatgctccccGctcctcgggcccatcgatct	4	10	9	18	4	1	1	0	1	1	0	5	3	3	1	5	1	1	2	5	1	0	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr1:205819111G>T	ENST00000367136.4	-	1	134	c.90C>A	c.(88-90)agC>agA	p.S30R	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	30						extracellular region	metal ion binding|peptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			GATGCTCCCCGCTCCTCGGGC	0.602													T	205819111	G	T	205819111	3	4	727	1	0	0	0	0	1	0	0	0	12205	1078	38	4	1470	4	PM20D1	1	205819111	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	3694373	205819111	43431510	5	55409											
CPSF3	51692	broad.mit.edu	37	chr2	9607904	9607904	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggttggagatcatgctcCagtaagtttttcacccatta	11	13	9	8	0	2	2	2	0	0	2	3	3	3	2	2	2	1	4	2	2	2	5			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:9607904C>T	ENST00000460593.1	+	16	2882	c.1744C>T	c.(1744-1746)Cag>Tag	p.Q582*	CPSF3_ENST00000489403.1_3'UTR|CPSF3_ENST00000238112.3_Splice_Site_p.Q619*			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	619					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		GATCATGCTCCAGTAAGTTTT	0.468													T	9607904	C	T	9607904	5	4	727	1	0	0	0	0	0	0	1	0	3857	608	21	2	1917	2	CPSF3	2	9607904	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		9607904	233591469	6	55410											
TTN	7273	broad.mit.edu	37	chr2	179429186	179429186	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaaattcagtttctaataCgttggtaaagctggctttca	11	16	8	6	1	3	0	2	0	1	0	3	0	3	0	0	2	2	6	0	2	6	8			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:179429186C>T	ENST00000589042.1	-	326	81897	c.81673G>A	c.(81673-81675)Gta>Ata	p.V27225I	TTN_ENST00000460472.2_Missense_Mutation_p.V18160I|TTN_ENST00000342175.6_Missense_Mutation_p.V18352I|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24657I|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V25584I|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18285I|TTN-AS1_ENST00000592689.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	25584	Fibronectin type-III 98.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.V18160I(1)|p.V24657I(1)|p.V18352I(1)|p.V18285I(1)|p.V24655I(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTTTCTAATACGTTGGTAAAG	0.383													T	179429186	C	T	179429186	3	4	727	1	0	0	0	0	1	0	0	0	16837	536	19	1	26454	1	TTN	2	179429186	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	169821282	179429186	63770187	7	55411											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	727	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	29683926	209113112	34086261	8	55412											
TMEM40	55287	broad.mit.edu	37	chr3	12783983	12783983	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgaagctcatccttcaaaaCgtcaggctccccatgcccag	10	9	7	15	1	3	1	3	1	0	0	5	1	5	1	4	1	3	2	4	1	3	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12783983C>T	ENST00000314124.7	-	5	681	c.325G>A	c.(325-327)Gtt>Att	p.V109I	TMEM40_ENST00000264728.8_Missense_Mutation_p.V109I|TMEM40_ENST00000431022.2_Missense_Mutation_p.V125I|TMEM40_ENST00000435575.1_Missense_Mutation_p.V33I|TMEM40_ENST00000435218.2_Missense_Mutation_p.V79I	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	109						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						TCCTTCAAAACGTCAGGCTCC	0.512													T	12783983	C	T	12783983	3	4	727	1	0	0	0	0	1	0	0	0	16263	536	19	1	408	1	TMEM40	3	12783983	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		12783983	185238447	9	55413											
TMEM40	55287	broad.mit.edu	37	chr3	12790221	12790221	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggaggaggaagaagacttGtttctctcatattgttcttg	10	14	12	5	0	3	2	1	0	2	2	4	6	3	5	0	3	0	2	0	3	3	6			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr3:12790221G>T	ENST00000314124.7	-	3	500	c.144C>A	c.(142-144)aaC>aaA	p.N48K	TMEM40_ENST00000264728.8_Missense_Mutation_p.N48K|TMEM40_ENST00000431022.2_Missense_Mutation_p.N64K|TMEM40_ENST00000435575.1_Intron|TMEM40_ENST00000435218.2_Missense_Mutation_p.N48K	NM_001284406.1|NM_018306.2	NP_001271335.1|NP_060776.2	Q8WWA1	TMM40_HUMAN	transmembrane protein 40	48						integral to membrane				breast(1)|large_intestine(3)|lung(5)|urinary_tract(1)	10						aagaagaCTTGTTTCTCTCAT	0.448													T	12790221	G	T	12790221	3	4	727	1	0	0	0	0	1	0	0	0	16263	1368	48	4	597	4	TMEM40	3	12790221	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	6238	12790221	185232209	10	55414											
AASDH	132949	broad.mit.edu	37	chr4	57221383	57221383	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagtcttctctggaatcctAtaaatggtcgcccaacttga	11	12	8	10	1	2	2	0	1	2	1	5	3	3	3	2	2	1	0	2	2	5	4			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr4:57221383A>G	ENST00000205214.6	-	6	1248	c.1068T>C	c.(1066-1068)taT>taC	p.Y356Y	AASDH_ENST00000434343.2_5'UTR|AASDH_ENST00000602986.1_Silent_p.Y203Y|AASDH_ENST00000513376.1_Silent_p.Y256Y|AASDH_ENST00000451613.1_Silent_p.Y356Y|AASDH_ENST00000502617.1_Silent_p.Y356Y	NM_181806.2	NP_861522.2	Q4L235	ACSF4_HUMAN	aminoadipate-semialdehyde dehydrogenase	356					fatty acid metabolic process		acid-thiol ligase activity|acyl carrier activity|ATP binding|cofactor binding			endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	40	Glioma(25;0.08)|all_neural(26;0.101)	all_hematologic(202;0.0017)				CTGGAATCCTATAAATGGTCG	0.368													G	57221383	A	G	57221383	2	3	727	1	0	0	0	0	0	0	0	1	22	456	16	3		3	AASDH	4	57221383	Silent	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		57221383	133932893	11	55415											
TGFBI	7045	broad.mit.edu	37	chr5	135383017	135383017	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaccaccatgcaaccaacGgggtggtgcacctcatcgat	10	6	10	15	3	1	0	1	0	0	0	2	2	1	0	5	3	4	2	5	3	2	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:135383017G>A	ENST00000442011.2	+	6	840	c.679G>A	c.(679-681)Ggg>Agg	p.G227R	TGFBI_ENST00000305126.8_Missense_Mutation_p.G227R	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	227	FAS1 1.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TGCAACCAACGGGGTGGTGCA	0.532													A	135383017	G	A	135383017	3	1	727	1	0	0	0	0	1	0	0	0	15920	1116	39	1	701	1	TGFBI	5	135383017	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		135383017	45532243	12	55416											
KDM3B	51780	broad.mit.edu	37	chr5	137721798	137721798	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atggccggaggaggaaaagtGcttcggactctgggtgtgac	9	8	17	7	2	1	1	0	1	1	0	2	5	1	5	1	6	1	1	1	6	2	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:137721798G>T	ENST00000314358.5	+	7	1068	c.868G>T	c.(868-870)Gct>Tct	p.A290S		NM_016604.3	NP_057688	Q7LBC6	KDM3B_HUMAN	lysine (K)-specific demethylase 3B	290					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(15)|liver(2)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	65						GAGGAAAAGTGCTTCGGACTC	0.483													T	137721798	G	T	137721798	3	4	727	1	0	0	0	0	1	0	0	0	8185	1319	46	4	894	4	KDM3B	5	137721798	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	2338781	137721798	43193462	13	55417											
RBM27	54439	broad.mit.edu	37	chr5	145610427	145610427	+	Frame_Shift_Del	DEL	C	C	-																															ctataacaatcatagctcttCcaattcttttggtcgaaacc																										TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr5:145610427delC	ENST00000265271.5	+	6	963	c.797delC	c.(796-798)tccfs	p.S266fs	RBM27_ENST00000506502.1_Frame_Shift_Del_p.S266fs	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	266					mRNA processing	cytoplasm|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATAGCTCTTCCAATTCTTTT	0.423													-	145610427	C	-	145610427	7	5	727	1	0	1	0	1	0	0	0	0	13215	855	30	0	819	0	RBM27	5	145610427	Frame_Shift_Del	DEL	C	TCGA-S9-A7J3-01A-21D-A34J-08	7888629	145610427	35304833	14	55418											
CRISP1	167	broad.mit.edu	37	chr6	49814267	49814267	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagtagttatgtcatcatccGttgttgtccattctccatgt	7	17	7	10	1	3	0	2	0	1	0	6	0	5	0	3	0	0	4	3	0	2	5	rs139194307	byFrequency	TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:49814267G>A	ENST00000335847.4	-	5	502	c.401C>T	c.(400-402)aCg>aTg	p.T134M	CRISP1_ENST00000505118.1_Missense_Mutation_p.T134M|CRISP1_ENST00000507853.1_Missense_Mutation_p.T134M|CRISP1_ENST00000355791.2_Missense_Mutation_p.T134M|CRISP1_ENST00000536021.1_Missense_Mutation_p.T134M|CRISP1_ENST00000329411.5_Missense_Mutation_p.T134M	NM_001131.2	NP_001122.2	P54107	CRIS1_HUMAN	cysteine-rich secretory protein 1	134					fusion of sperm to egg plasma membrane	extracellular space				endometrium(1)|kidney(2)|large_intestine(6)|lung(15)|skin(2)|upper_aerodigestive_tract(1)	27	Lung NSC(77;0.0358)					GTCATCATCCGTTGTTGTCCA	0.398													A	49814267	G	A	49814267	3	1	727	1	0	0	0	0	1	0	0	0	3910	1145	40	1	364	1	CRISP1	6	49814267	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		49814267	121300800	15	55419											
SYNJ2	8871	broad.mit.edu	37	chr6	158454620	158454620	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaggcctgcctcgtcTctcgcgttagctgtgagcgc	5	9	13	14	4	1	1	0	1	1	0	4	1	1	1	3	2	3	2	3	2	2	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr6:158454620T>C	ENST00000355585.4	+	4	694	c.619T>C	c.(619-621)Tct>Cct	p.S207P	SYNJ2_ENST00000367122.2_Missense_Mutation_p.S207P|SYNJ2_ENST00000367121.3_Missense_Mutation_p.S207P|SYNJ2_ENST00000449859.2_Missense_Mutation_p.S156P	NM_001178088.1|NM_003898.3	NP_001171559.1|NP_003889.1	O15056	SYNJ2_HUMAN	synaptojanin 2	207	SAC.						nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			biliary_tract(1)|endometrium(9)|kidney(3)|large_intestine(11)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(65;4.42e-18)|BRCA - Breast invasive adenocarcinoma(81;4.23e-05)		CTGCCTCGTCTCTCGCGTTAG	0.622													C	158454620	T	C	158454620	3	2	727	1	0	0	0	0	1	0	0	0	15550	1551	54	3	633	3	SYNJ2	6	158454620	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08	108640353	158454620	12660447	16	55420											
MCM7	4176	broad.mit.edu	37	chr7	99697242	99697242	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgtactgaggcagcagctcTtgtacggcatcagcaaagag	11	9	12	9	1	2	2	1	1	1	1	2	2	2	2	0	2	5	7	0	2	3	4			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr7:99697242T>C	ENST00000303887.5	-	3	891	c.246A>G	c.(244-246)caA>caG	p.Q82Q	MCM7_ENST00000354230.3_5'UTR|MCM7_ENST00000343023.6_Silent_p.Q82Q	NM_005916.3	NP_005907.3	P33993	MCM7_HUMAN	minichromosome maintenance complex component 7	82					cell cycle checkpoint|DNA strand elongation involved in DNA replication|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|regulation of phosphorylation|response to DNA damage stimulus|S phase of mitotic cell cycle	chromatin|MCM complex	ATP binding|protein binding			endometrium(1)|kidney(5)|large_intestine(5)|lung(4)|ovary(1)|stomach(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)				Atorvastatin(DB01076)	GCAGCAGCTCTTGTACGGCAT	0.532													C	99697242	T	C	99697242	2	2	727	1	0	0	0	0	0	0	0	1	9467	1606	56	3		3	MCM7	7	99697242	Silent	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		99697242	59441421	17	55421											
RNF19A	25897	broad.mit.edu	37	chr8	101287223	101287223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataactaatggatgaagaacGtatagttctcaaacgtaagc	17	10	8	6	2	1	2	1	1	1	1	2	3	1	3	0	1	4	3	0	1	8	6			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr8:101287223G>A	ENST00000519449.1	-	4	1157	c.841C>T	c.(841-843)Cgt>Tgt	p.R281C	RNF19A_ENST00000341084.2_Missense_Mutation_p.R281C	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	281					microtubule cytoskeleton organization|protein modification process	centrosome|integral to membrane	ligase activity|transcription factor binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GATGAAGAACGTATAGTTCTC	0.378													A	101287223	G	A	101287223	3	1	727	1	0	0	0	0	1	0	0	0	13561	1145	40	1	1707	1	RNF19A	8	101287223	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		101287223	45076799	18	55422											
USP54	159195	broad.mit.edu	37	chr10	75260418	75260418	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atttgggggagttacctgggAgtctattgggctcccctgcc	5	12	14	10	0	1	0	0	0	1	0	2	2	2	2	4	4	2	2	4	4	2	4			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr10:75260418A>G	ENST00000339859.4	-	22	4590	c.4490T>C	c.(4489-4491)cTc>cCc	p.L1497P	RP11-137L10.6_ENST00000595935.1_RNA|USP54_ENST00000428547.1_Missense_Mutation_p.L1347P|USP54_ENST00000408019.1_Missense_Mutation_p.L1497P|RP11-137L10.6_ENST00000597958.1_RNA|RP11-137L10.6_ENST00000600607.1_RNA|RP11-137L10.6_ENST00000593790.1_RNA|USP54_ENST00000497106.1_5'UTR|USP54_ENST00000422491.2_Missense_Mutation_p.L632P|RP11-137L10.6_ENST00000595069.1_RNA|RP11-137L10.6_ENST00000442133.4_RNA|USP54_ENST00000394811.2_Missense_Mutation_p.L538P|RP11-137L10.6_ENST00000596320.1_RNA|RP11-137L10.6_ENST00000600206.1_RNA			Q70EL1	UBP54_HUMAN	ubiquitin specific peptidase 54	1497					ubiquitin-dependent protein catabolic process		protein binding|ubiquitin thiolesterase activity			breast(5)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	30	Prostate(51;0.0112)					GTTACCTGGGAGTCTATTGGG	0.522													G	75260418	A	G	75260418	3	3	727	1	0	0	0	0	1	0	0	0	17187	304	11	3	572	3	USP54	10	75260418	Missense_Mutation	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		75260418	60274329	19	55423											
AHNAK	79026	broad.mit.edu	37	chr11	62301031	62301031	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccctgtacctctactgccctAcccccaagagaagatgaaat	12	8	6	15	0	1	3	0	1	1	2	1	4	1	3	5	0	4	1	5	0	6	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62301031A>G	ENST00000378024.4	-	5	1132	c.858T>C	c.(856-858)ggT>ggC	p.G286G	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	286					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CTACTGCCCTACCCCCAAGAG	0.517													G	62301031	A	G	62301031	2	3	727	1	0	0	0	0	0	0	0	1	414	378	14	3		3	AHNAK	11	62301031	Silent	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08		62301031	72705485	20	55424											
LRRN4CL	221091	broad.mit.edu	37	chr11	62455807	62455807	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgtagctccttgcagggCacctgcaggtgtcggcagtg	5	10	14	12	1	1	0	0	0	1	0	3	0	2	0	2	3	3	6	2	3	1	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr11:62455807C>T	ENST00000317449.4	-	2	651	c.174G>A	c.(172-174)gtG>gtA	p.V58V		NM_203422.2	NP_981967.1	Q8ND94	LRN4L_HUMAN	LRRN4 C-terminal like	58						integral to membrane				cervix(1)|kidney(1)	2						CCTTGCAGGGCACCTGCAGGT	0.682													T	62455807	C	T	62455807	2	4	727	1	0	0	0	0	0	0	0	1	9108	697	25	2		2	LRRN4CL	11	62455807	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	154776	62455807	72550709	21	55425											
LARP4	113251	broad.mit.edu	37	chr12	50860853	50860853	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagaatgccaggtgaactcGttttggagaataggatgtct	12	11	12	6	1	1	3	0	1	1	2	2	5	1	4	1	3	2	1	1	3	5	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr12:50860853G>A	ENST00000398473.2	+	13	1607	c.1495G>A	c.(1495-1497)Gtt>Att	p.V499I	LARP4_ENST00000429001.3_Missense_Mutation_p.V505I|LARP4_ENST00000518444.1_Missense_Mutation_p.V498I|LARP4_ENST00000347328.5_Missense_Mutation_p.V428I|LARP4_ENST00000293618.8_Missense_Mutation_p.V428I	NM_052879.4|NM_199188.2	NP_443111.4|NP_954658.2	Q71RC2	LARP4_HUMAN	La ribonucleoprotein domain family, member 4	499							nucleotide binding|RNA binding			breast(3)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(7)|ovary(1)|skin(2)|urinary_tract(1)	23						AGGTGAACTCGTTTTGGAGAA	0.393													A	50860853	G	A	50860853	3	1	727	1	0	0	0	0	1	0	0	0	8689	1145	40	1	1549	1	LARP4	12	50860853	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08		50860853	82991042	22	55426											
PRMT5	10419	broad.mit.edu	37	chr14	23395463	23395463	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggctccccaagccagcgaTcaatgacatgattagatggg	11	8	12	10	1	1	3	1	2	0	1	2	4	2	3	3	2	2	1	3	2	3	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:23395463T>G	ENST00000324366.8	-	7	879	c.656A>C	c.(655-657)gAt>gCt	p.D219A	PRMT5_ENST00000397441.2_Missense_Mutation_p.D202A|PRMT5-AS1_ENST00000587245.2_RNA|PRMT5_ENST00000553641.1_5'UTR|PRMT5_ENST00000538452.1_Missense_Mutation_p.D113A|PRMT5-AS1_ENST00000595662.1_RNA|PRMT5_ENST00000397440.4_Intron|PRMT5-AS1_ENST00000590290.1_RNA|PRMT5-AS1_ENST00000599580.2_RNA|PRMT5_ENST00000216350.8_Missense_Mutation_p.D158A|PRMT5_ENST00000553897.1_Missense_Mutation_p.D175A	NM_006109.3	NP_006100.2	O14744	ANM5_HUMAN	protein arginine methyltransferase 5	219					cell proliferation|histone H4-R3 methylation|ncRNA metabolic process|regulation of mitosis|spliceosomal snRNP assembly|transcription, DNA-dependent	cytosol|nucleus	histone-arginine N-methyltransferase activity|protein binding|protein-arginine omega-N symmetric methyltransferase activity|ribonucleoprotein binding			endometrium(4)|kidney(3)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	25	all_cancers(95;2.76e-05)			GBM - Glioblastoma multiforme(265;0.0126)		AAGCCAGCGATCAATGACATG	0.478													G	23395463	T	G	23395463	3	3	727	1	0	0	0	0	1	0	0	0	12625	1435	50	5	1301	5	PRMT5	14	23395463	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		23395463	83954077	23	55427											
DDX24	57062	broad.mit.edu	37	chr14	94545908	94545908	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actggagggattcttggcagGggagaccaactggtaatctg	10	9	15	7	0	2	1	0	0	2	1	2	4	2	3	1	6	1	2	1	6	2	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:94545908G>A	ENST00000330836.5	-	2	312	c.181C>T	c.(181-183)Cct>Tct	p.P61S	DDX24_ENST00000544005.1_Intron|DDX24_ENST00000555054.1_Missense_Mutation_p.P18S	NM_020414.3	NP_065147.1	Q9GZR7	DDX24_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 24	61					RNA metabolic process	cytoplasm|nucleolus	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding			cervix(3)|endometrium(4)|kidney(4)|large_intestine(5)|lung(3)|ovary(2)|skin(1)|urinary_tract(1)	23		all_cancers(154;0.12)		Epithelial(152;0.114)|all cancers(159;0.19)|COAD - Colon adenocarcinoma(157;0.207)		TTCTTGGCAGGGGAGACCAAC	0.468													A	94545908	G	A	94545908	3	1	727	1	0	0	0	0	1	0	0	0	4385	1232	43	2	2430	2	DDX24	14	94545908	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	71150445	94545908	12803632	24	55428											
SERPINA4	5267	broad.mit.edu	37	chr14	95035850	95035850	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccacatcctgcgattcaaccGgcccttccttgtggtgatct	6	12	8	15	2	2	1	1	1	1	0	4	2	4	1	5	2	2	0	5	2	1	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:95035850G>A	ENST00000557004.1	+	5	1623	c.1202G>A	c.(1201-1203)cGg>cAg	p.R401Q	SERPINA4_ENST00000298841.5_Missense_Mutation_p.R401Q|SERPINA5_ENST00000553780.1_Intron|SERPINA4_ENST00000555095.1_Missense_Mutation_p.R401Q			P29622	KAIN_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4	401					regulation of proteolysis	extracellular space	serine-type endopeptidase inhibitor activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(28)|ovary(3)|skin(1)|urinary_tract(1)	46				COAD - Colon adenocarcinoma(157;0.211)		CGATTCAACCGGCCCTTCCTT	0.587													A	95035850	G	A	95035850	3	1	727	1	0	0	0	0	1	0	0	0	14184	1116	39	1	1216	1	SERPINA4	14	95035850	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	489942	95035850	12313690	25	55429											
KIF26A	26153	broad.mit.edu	37	chr14	104638942	104638942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcggggaccgtggccgacGtgctccagtcggtggtcagt	4	8	17	12	5	1	0	1	0	0	0	4	2	2	1	3	5	1	2	3	5	0	0			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr14:104638942G>A	ENST00000315264.7	+	6	1318	c.940G>A	c.(940-942)Gtg>Atg	p.V314M	KIF26A_ENST00000423312.2_Missense_Mutation_p.V453M			Q9ULI4	KI26A_HUMAN	kinesin family member 26A	453					blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CGTGGCCGACGTGCTCCAGTC	0.642													A	104638942	G	A	104638942	3	1	727	1	0	0	0	0	1	0	0	0	8352	1145	40	1	1383	1	KIF26A	14	104638942	Missense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	9603092	104638942	2710598	26	55430											
CEP152	22995	broad.mit.edu	37	chr15	49031241	49031241	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgcttgcaactaccatcCccaaactggaattccaaatg	13	9	7	12	0	0	0	0	0	0	0	2	1	2	1	4	2	5	2	4	2	5	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr15:49031241C>T	ENST00000380950.2	-	27	4525	c.4338G>A	c.(4336-4338)ggG>ggA	p.G1446G	CEP152_ENST00000399334.3_Silent_p.G1390G	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1390					centrosome duplication|G2/M transition of mitotic cell cycle	centrosome|cytosol	protein kinase binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		AACTACCATCCCCAAACTGGA	0.448													T	49031241	C	T	49031241	2	4	727	1	0	0	0	0	0	0	0	1	3278	610	22	2		2	CEP152	15	49031241	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		49031241	53500151	27	55431											
USP6	9098	broad.mit.edu	37	chr17	5039171	5039171	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttatctgcctgaggaggaCgcattctgggcactggtgca	7	11	13	10	1	2	1	0	1	2	0	2	3	2	3	1	4	2	3	1	4	1	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5039171C>T	ENST00000574788.1	+	17	2842	c.612C>T	c.(610-612)gaC>gaT	p.D204D	USP6_ENST00000304328.5_5'UTR|USP6_ENST00000332776.4_Silent_p.D204D|USP6_ENST00000250066.6_Silent_p.D204D			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	204	Rab-GAP TBC.				protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CTGAGGAGGACGCATTCTGGG	0.617			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								T	5039171	C	T	5039171	2	4	727	1	0	0	0	0	0	0	0	1	17188	535	19	1		1	USP6	17	5039171	Silent	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		5039171	76156039	28	55432											
RABEP1	9135	broad.mit.edu	37	chr17	5250214	5250214	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaactgcggaaagaattgCatgaaggtaaatatactgta	18	9	10	4	1	0	3	0	1	0	2	0	4	0	4	0	2	4	3	0	2	9	5			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:5250214C>A	ENST00000262477.6	+	6	1002	c.778C>A	c.(778-780)Cat>Aat	p.H260N	RABEP1_ENST00000341923.6_Missense_Mutation_p.H260N|RABEP1_ENST00000537505.1_Missense_Mutation_p.H217N|RABEP1_ENST00000546142.2_Missense_Mutation_p.H260N|RABEP1_ENST00000408982.2_Missense_Mutation_p.H260N	NM_004703.4	NP_004694.2	Q15276	RABE1_HUMAN	rabaptin, RAB GTPase binding effector protein 1	260					apoptosis|cellular membrane fusion|endocytosis|protein transport	centrosome|early endosome|endocytic vesicle|recycling endosome	growth factor activity|GTPase activator activity|protein homodimerization activity			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	8						GAAAGAATTGCATGAAGGTAA	0.308													A	5250214	C	A	5250214	3	1	727	1	0	0	0	0	1	0	0	0	13049	710	25	4	800	4	RABEP1	17	5250214	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	211043	5250214	75944996	29	55433											
NTN1	9423	broad.mit.edu	37	chr17	9083253	9083253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggctaccagcagagccgctCtcccatcgccccctgcataa	9	6	8	18	2	1	1	0	0	1	1	3	1	1	1	5	1	4	4	5	1	2	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr17:9083253C>T	ENST00000173229.2	+	4	1444	c.1337C>T	c.(1336-1338)tCt>tTt	p.S446F	NTN1_ENST00000546090.1_Missense_Mutation_p.S446F|NTN1_ENST00000538852.1_Missense_Mutation_p.S446F	NM_004822.2	NP_004813.2	O95631	NET1_HUMAN	netrin 1	446	Laminin EGF-like 3.				apoptosis|axon guidance		protein binding		NTN1/ACLY(2)	central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(5)	13						CAGAGCCGCTCTCCCATCGCC	0.582													T	9083253	C	T	9083253	3	4	727	1	0	0	0	0	1	0	0	0	10776	913	32	2	1347	2	NTN1	17	9083253	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	3833039	9083253	72111957	30	55434											
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	727	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		42791757	16337226	31	55435											
ZNF334	55713	broad.mit.edu	37	chr20	45131690	45131691	+	Frame_Shift_Del	DEL	AT	AT	-																															aagaatacagtttgtgtcaaAtgtttatcttggatttcctt																										TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr20:45131690_45131691delAT	ENST00000457685.2	-	6	1496_1497	c.173_174delAT	c.(172-174)catfs	p.H58fs	ZNF334_ENST00000347606.4_Frame_Shift_Del_p.H96fs|ZNF334_ENST00000593880.1_Frame_Shift_Del_p.H119fs			Q9HCZ1	ZN334_HUMAN	zinc finger protein 334	96	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	32		Myeloproliferative disorder(115;0.0122)				TTTGTGTCAAATGTTTATCTTG	0.351													-	45131691	AT	-	45131690	7	5	727	1	0	1	0	1	0	0	0	0	17952	98	4	0	1758	0	ZNF334	20	45131690	Frame_Shift_Del	DEL	AT	TCGA-S9-A7J3-01A-21D-A34J-08		45131690	17893830	32	55436											
TPTE	7179	broad.mit.edu	37	chr21	10970009	10970009	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttaactatttattgctcacCtttctttcgcaggtgcctcc	6	18	5	12	1	2	0	1	0	1	0	4	0	3	0	3	1	3	2	3	1	3	8			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:10970009C>G	ENST00000298232.7	-	6	486	c.119G>C	c.(118-120)aGt>aCt	p.S40T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000361285.4_Splice_Site_p.S40T|TPTE_ENST00000342420.5_Splice_Site_p.S40T	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	40					signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TATTGCTCACCTTTCTTTCGC	0.438													G	10970009	C	G	10970009	5	3	727	1	0	0	0	0	0	0	1	0	16531	695	24	4	1612	4	TPTE	21	10970009	Splice_Site	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08		10970009	37159886	33	55437											
U2AF1	7307	broad.mit.edu	37	chr21	44514659	44514661	+	In_Frame_Del	DEL	CCT	CCT	-																															gcatgaagttgcagaagccgCctcgtgtgcattctctgtgg																										TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chr21:44514659_44514661delCCT	ENST00000459639.1	-	6	1300_1302	c.276_278delAGG	c.(274-279)cgaggc>cgc	p.G94del	U2AF1_ENST00000398137.1_In_Frame_Del_p.G94del|U2AF1_ENST00000380276.2_In_Frame_Del_p.G167del|U2AF1_ENST00000486519.1_5'UTR|U2AF1_ENST00000291552.4_In_Frame_Del_p.G167del			Q01081	U2AF1_HUMAN	U2 small nuclear RNA auxiliary factor 1	167	RRM.				mRNA 3'-end processing|mRNA export from nucleus|termination of RNA polymerase II transcription	Cajal body|catalytic step 2 spliceosome|nuclear speck	nucleotide binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(111)|large_intestine(2)|lung(7)|prostate(2)|skin(1)	126						GCAGAAGCCGCCTCGTGTGCATT	0.571			Mis		"CLL, MDS"								-	44514661	CCT	-	44514659	7	5	727	1	0	1	0	1	0	0	0	0	16923	739	26	0	233	0	U2AF1	21	44514659	In_Frame_Del	DEL	CCT	TCGA-S9-A7J3-01A-21D-A34J-08	33544650	44514659	3615236	34	55438											
BMX	660	broad.mit.edu	37	chrX	15561245	15561245	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgtgtgaaagtatctgacTttggaatgacaaggtaagcc	12	12	11	6	0	2	3	0	3	2	0	2	4	2	4	1	2	1	2	1	2	5	3			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:15561245T>A	ENST00000357607.2	+	16	1851	c.1663T>A	c.(1663-1665)Ttt>Att	p.F555I	BMX_ENST00000348343.6_Missense_Mutation_p.F555I|BMX_ENST00000342014.6_Missense_Mutation_p.F555I			P51813	BMX_HUMAN	BMX non-receptor tyrosine kinase	555	Protein kinase.				cellular component disassembly involved in apoptosis|intracellular signal transduction|mesoderm development	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding|signal transducer activity			breast(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(14)|ovary(2)|urinary_tract(3)	30	Hepatocellular(33;0.183)					AGTATCTGACTTTGGAATGAC	0.418													A	15561245	T	A	15561245	3	1	727	1	0	0	0	0	1	0	0	0	1479	1609	56	5	1721	5	BMX	23	15561245	Missense_Mutation	SNP	T	TCGA-S9-A7J3-01A-21D-A34J-08		15561245	139709315	35	55439											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	727	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-S9-A7J3-01A-21D-A34J-08	21467180	37028425	118242135	36	55440											
EFHC2	80258	broad.mit.edu	37	chrX	44109649	44109649	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gaggaactgtttcagggtgtCgagggattcgtagggacgta	9	10	17	5	3	1	0	1	0	0	0	3	5	1	3	0	4	1	3	0	4	3	4			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:44109649C>G	ENST00000420999.1	-	5	732	c.649G>C	c.(649-651)Gac>Cac	p.D217H		NM_025184.3	NP_079460.2	Q5JST6	EFHC2_HUMAN	EF-hand domain (C-terminal) containing 2	217							calcium ion binding			NS(1)|breast(7)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	29						TTCAGGGTGTCGAGGGATTCG	0.438													G	44109649	C	G	44109649	3	3	727	1	0	0	0	0	1	0	0	0	4986	884	31	4	1644	4	EFHC2	23	44109649	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	7081224	44109649	111160911	37	55441											
RGAG1	57529	broad.mit.edu	37	chrX	109695424	109695424	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaaacaatgtccatgccaCaattgacagtcccagcctct	12	9	6	14	0	1	2	0	2	1	0	3	2	3	2	4	0	3	0	4	0	3	1			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:109695424C>A	ENST00000465301.2	+	3	1825	c.1579C>A	c.(1579-1581)Caa>Aaa	p.Q527K	RGAG1_ENST00000540313.1_Missense_Mutation_p.Q527K	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	527										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GTCCATGCCACAATTGACAGT	0.522													A	109695424	C	A	109695424	3	1	727	1	0	0	0	0	1	0	0	0	13362	479	17	4	1581	4	RGAG1	23	109695424	Missense_Mutation	SNP	C	TCGA-S9-A7J3-01A-21D-A34J-08	65585775	109695424	45575136	38	55442											
ALG13	79868	broad.mit.edu	37	chrX	110988026	110988026	+	Frame_Shift_Del	DEL	T	T	-																															cctcctcctcctcctcctccTcctcctcctgctcttgatgt																										TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:110988026delT	ENST00000394780.3	+	24	2838	c.2826delT	c.(2824-2826)cctfs	p.P945fs	ALG13_ENST00000470971.1_3'UTR|ALG13_ENST00000251943.4_Intron	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	945	Pro-rich.				dolichol-linked oligosaccharide biosynthetic process|lipid glycosylation|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane	carbohydrate binding|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity			endometrium(2)|lung(10)|skin(1)	13						ctcctcctcctcctcctcctg	0.572													-	110988026	T	-	110988026	7	5	727	1	0	1	0	1	0	0	0	0	515	1538	54	0	3062	0	ALG13	23	110988026	Frame_Shift_Del	DEL	T	TCGA-S9-A7J3-01A-21D-A34J-08	1292602	110988026	44282534	39	55443											
ELF4	2000	broad.mit.edu	37	chrX	129203477	129203477	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagaccctggagctggttcGccgggtggtactggcagagg	6	8	18	9	2	0	2	0	1	0	2	1	4	0	3	2	6	2	4	2	6	1	2			TCGA-S9-A7J3-01A-21D-A34J-08	TCGA-S9-A7J3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8532359d-7b4d-4556-afdf-2885c7604b66	d3de3deb-2955-44a3-853f-56f22803d4a2	g.chrX:129203477G>A	ENST00000308167.5	-	8	1364	c.985C>T	c.(985-987)Cga>Tga	p.R329*	ELF4_ENST00000335997.7_Nonsense_Mutation_p.R329*	NM_001421.3	NP_001412.1	Q99607	ELF4_HUMAN	E74-like factor 4 (ets domain transcription factor)	329					natural killer cell proliferation|NK T cell proliferation|positive regulation of transcription from RNA polymerase II promoter	PML body	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	22						GAGCTGGTTCGCCGGGTGGTA	0.612			T	ERG	AML								A	129203477	G	A	129203477	4	1	727	1	0	0	0	0	0	1	0	0	5097	1095	38	1	1014	1	ELF4	23	129203477	Nonsense_Mutation	SNP	G	TCGA-S9-A7J3-01A-21D-A34J-08	18215451	129203477	26067083	40	55444											
VPS13D	55187	broad.mit.edu	37	chr1	12557680	12557680	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacagacaacatacaggaCgaattgtaagttagagcatg	16	8	9	8	1	1	2	1	0	0	2	1	4	1	3	0	1	3	3	0	1	5	4			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:12557680C>T	ENST00000358136.3	+	68	12919	c.12789C>T	c.(12787-12789)gaC>gaT	p.D4263D	VPS13D_ENST00000356315.4_Silent_p.D4238D|VPS13D_ENST00000543766.1_Silent_p.D261D|VPS13D_ENST00000471923.1_5'UTR|VPS13D_ENST00000496628.1_3'UTR|VPS13D_ENST00000543710.1_Silent_p.D67D	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN	vacuolar protein sorting 13 homolog D (S. cerevisiae)	4262					protein localization					NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		ACATACAGGACGAATTGTAAG	0.517													T	12557680	C	T	12557680	2	4	728	1	0	0	0	0	0	0	0	1	17294	535	19	1		1	VPS13D	1	12557680	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		12557680	236692941	1	55445											
TXNDC12	51060	broad.mit.edu	37	chr1	52507235	52507235	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgcttctttcttcccatcTtccagtgtcctccaatgaat	6	16	5	14	0	3	1	0	1	3	0	7	1	7	1	4	0	1	2	4	0	2	4			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:52507235T>C	ENST00000371626.4	-	2	1206	c.132A>G	c.(130-132)gaA>gaG	p.E44E	TXNDC12_ENST00000610127.1_Silent_p.E44E|RP11-91A18.4_ENST00000425802.1_RNA	NM_015913.3	NP_056997.1	O95831	AIFM1_HUMAN	thioredoxin domain containing 12 (endoplasmic reticulum)	384					activation of caspase activity|apoptosis in response to endoplasmic reticulum stress|cell redox homeostasis|DNA damage response, signal transduction resulting in induction of apoptosis|DNA fragmentation involved in apoptotic nuclear change	cytosol|mitochondrial inner membrane|mitochondrial intermembrane space|nucleus|perinuclear region of cytoplasm	DNA binding|electron carrier activity|flavin adenine dinucleotide binding|oxidoreductase activity|protein binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	7						TCTTCCCATCTTCCAGTGTCC	0.398													C	52507235	T	C	52507235	2	2	728	1	0	0	0	0	0	0	0	1	16895	1606	56	3		3	TXNDC12	1	52507235	Silent	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	39949555	52507235	196743386	2	55446											
WDR78	79819	broad.mit.edu	37	chr1	67292589	67292589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttggagaccaggcaacgtcGtaaacaacagaagtagctgg	14	7	12	8	2	0	2	0	0	0	2	1	3	0	2	1	3	4	4	1	3	6	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:67292589G>A	ENST00000371026.3	-	15	2308	c.2253C>T	c.(2251-2253)taC>taT	p.Y751Y	WDR78_ENST00000431318.1_Silent_p.Y464Y	NM_024763.4	NP_079039.4	Q5VTH9	WDR78_HUMAN	WD repeat domain 78	751								p.Y751Y(1)		NS(1)|endometrium(3)|kidney(6)|large_intestine(6)|lung(10)|ovary(3)|skin(3)	32						AGGCAACGTCGTAAACAACAG	0.393													A	67292589	G	A	67292589	2	1	728	1	0	0	0	0	0	0	0	1	17430	1140	40	1		1	WDR78	1	67292589	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	14785354	67292589	181958032	3	55447											
CR1L	1379	broad.mit.edu	37	chr1	207867851	207867851	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgggtgagccctccatatActgcaccagcaaagatgatc	11	9	10	11	0	0	3	0	2	0	1	2	3	1	3	3	1	4	2	3	1	3	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:207867851A>T	ENST00000508064.2	+	5	677	c.617A>T	c.(616-618)tAc>tTc	p.Y206F	CR1L_ENST00000530905.1_Intron	NM_175710.1	NP_783641.1	Q2VPA4	CR1L_HUMAN	complement component (3b/4b) receptor 1-like	206	Sushi 3.					cytoplasm|extracellular region|membrane				endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	22						CCCTCCATATACTGCACCAGC	0.478													T	207867851	A	T	207867851	3	4	728	1	0	0	0	0	1	0	0	0	3872	391	14	5	635	5	CR1L	1	207867851	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	140575262	207867851	41382770	4	55448											
C1orf65	164127	broad.mit.edu	37	chr1	223567220	223567220	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccccagcggccgcagcccTgcccgcattaccctctggcc	5	5	9	22	3	1	0	0	0	1	0	1	0	1	0	7	2	4	2	7	2	1	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr1:223567220T>A	ENST00000366875.3	+	1	506	c.403T>A	c.(403-405)Tgc>Agc	p.C135S		NM_152610.2	NP_689823.2	Q8N715	CA065_HUMAN	chromosome 1 open reading frame 65	135	Pro-rich.									breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		GCCGCAGCCCTGCCCGCATTA	0.701													A	223567220	T	A	223567220	3	1	728	1	0	0	0	0	1	0	0	0	2076	1580	55	5	405	5	C1orf65	1	223567220	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	15699369	223567220	25683401	5	55449											
DNMT3A	1788	broad.mit.edu	37	chr2	25463521	25463521	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacctaccgtagaggccctTgcgagcagggttgacgatgg	8	8	15	10	3	0	2	0	1	0	1	0	4	0	2	3	3	4	4	3	3	3	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:25463521T>C	ENST00000264709.3	-	18	2498	c.2161A>G	c.(2161-2163)Aag>Gag	p.K721E	DNMT3A_ENST00000380746.4_Missense_Mutation_p.K532E|DNMT3A_ENST00000321117.5_Missense_Mutation_p.K721E|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.K498E	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	721					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TAGAGGCCCTTGCGAGCAGGG	0.577			"Mis, F, N, S"		AML								C	25463521	T	C	25463521	3	2	728	1	0	0	0	0	1	0	0	0	4715	1821	63	3	601	3	DNMT3A	2	25463521	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08		25463521	217735852	6	55450											
CCDC104	112942	broad.mit.edu	37	chr2	55750876	55750876	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttgaaaagctgttagaagGttacctcaaagaaattggaa	16	10	11	4	0	1	3	1	1	0	2	1	4	1	4	1	3	2	4	1	3	8	4			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:55750876G>T	ENST00000349456.4	+	3	348	c.200G>T	c.(199-201)gGt>gTt	p.G67V	CCDC104_ENST00000403007.3_Missense_Mutation_p.G67V|CCDC104_ENST00000407816.3_Missense_Mutation_p.G67V|CCDC104_ENST00000406691.3_Missense_Mutation_p.G67V|CCDC104_ENST00000339012.3_Missense_Mutation_p.G92V			Q96G28	CC104_HUMAN	coiled-coil domain containing 104	67										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|liver(2)|lung(1)|ovary(2)	14			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CTGTTAGAAGGTTACCTCAAA	0.294													T	55750876	G	T	55750876	3	4	728	1	0	0	0	0	1	0	0	0	2765	1261	44	4	210	4	CCDC104	2	55750876	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	30287355	55750876	187448497	7	55451											
CKAP2L	150468	broad.mit.edu	37	chr2	113513993	113513993	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagtaacagggtatgaccGtatcttagtttcatttggtc	9	16	9	7	1	3	1	2	1	1	0	4	1	3	1	1	2	1	4	1	2	4	7			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:113513993G>A	ENST00000541405.1	-	4	983	c.460C>T	c.(460-462)Cgg>Tgg	p.R154W	CKAP2L_ENST00000302450.6_Missense_Mutation_p.R319W			Q8IYA6	CKP2L_HUMAN	cytoskeleton associated protein 2-like	319						centrosome				breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	28						GGGTATGACCGTATCTTAGTT	0.378													A	113513993	G	A	113513993	3	1	728	1	0	0	0	0	1	0	0	0	3474	1144	40	1	1306	1	CKAP2L	2	113513993	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	57763117	113513993	129685380	8	55452											
SAP130	79595	broad.mit.edu	37	chr2	128747140	128747140	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaaaaatttaaaattacctGaagtctttccttcaggctga	14	13	6	8	0	2	2	1	2	1	0	3	2	3	2	2	1	1	2	2	1	6	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:128747140G>C	ENST00000357702.5	-	13	1987	c.1856C>G	c.(1855-1857)tCa>tGa	p.S619*	SAP130_ENST00000259235.3_Nonsense_Mutation_p.S619*|SAP130_ENST00000259234.6_Nonsense_Mutation_p.S593*	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	619					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AAAATTACCTGAAGTCTTTCC	0.433													C	128747140	G	C	128747140	4	2	728	1	0	0	0	0	0	1	0	0	13922	1294	45	4	1431	4	SAP130	2	128747140	Nonsense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	15233147	128747140	114452233	9	55453											
LRP1B	53353	broad.mit.edu	37	chr2	141130603	141130603	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cacagcttttctcatcttccCcatatttgcagtcttcatgg	7	16	5	13	0	4	0	2	0	3	0	6	0	5	0	2	1	2	2	2	1	1	6			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:141130603C>T	ENST00000389484.3	-	69	11713	c.10742G>A	c.(10741-10743)gGg>gAg	p.G3581E		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3581	LDL-receptor class A 27.				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CTCATCTTCCCCATATTTGCA	0.358										TSP Lung(27;0.18)			T	141130603	C	T	141130603	3	4	728	1	0	0	0	0	1	0	0	0	9025	623	22	2	3149	2	LRP1B	2	141130603	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	12383463	141130603	102068770	10	55454											
TTN	7273	broad.mit.edu	37	chr2	179598483	179598483	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctcattttgatttttccGtcttctctgatgacctcttg	6	19	6	10	1	4	3	1	3	3	0	6	3	5	3	2	0	1	1	2	0	1	6			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:179598483G>A	ENST00000589042.1	-	53	15857	c.15633C>T	c.(15631-15633)gaC>gaT	p.D5211D	TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000582847.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Silent_p.D4894D|TTN_ENST00000342992.6_Silent_p.D3967D|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	4894	Ig-like 32.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGATTTTTCCGTCTTCTCTGA	0.453													A	179598483	G	A	179598483	2	1	728	1	0	0	0	0	0	0	0	1	16837	1136	40	1		1	TTN	2	179598483	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	38467880	179598483	63600890	11	55455											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	728	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	29514629	209113112	34086261	12	55456											
FGD5	152273	broad.mit.edu	37	chr3	14922109	14922109	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtccagagcccttgtcatcGcacaggaactgctatcttca	10	10	8	13	1	3	1	2	0	1	1	5	2	4	2	2	1	3	2	2	1	2	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:14922109G>A	ENST00000285046.5	+	3	2799	c.2689G>A	c.(2689-2691)Gca>Aca	p.A897T	FGD5_ENST00000543601.1_Missense_Mutation_p.A656T	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	897	DH.				actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						CCTTGTCATCGCACAGGAACT	0.542													A	14922109	G	A	14922109	3	1	728	1	0	0	0	0	1	0	0	0	5885	1087	38	1	2699	1	FGD5	3	14922109	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		14922109	183100321	13	55457											
USP19	10869	broad.mit.edu	37	chr3	49153204	49153204	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttacatgctccatgggtgTgcgggttgccacactgtcta	6	12	13	10	1	1	0	0	0	1	0	2	0	2	0	2	3	4	3	2	3	2	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:49153204T>A	ENST00000453664.1	-	11	1927	c.1609A>T	c.(1609-1611)Aca>Tca	p.T537S	USP19_ENST00000434032.2_Missense_Mutation_p.T547S|USP19_ENST00000398896.1_Missense_Mutation_p.T254S|USP19_ENST00000398888.2_Missense_Mutation_p.T446S|USP19_ENST00000398898.2_Missense_Mutation_p.T486S|USP19_ENST00000417901.1_Missense_Mutation_p.T549S|USP19_ENST00000398892.3_Missense_Mutation_p.T486S	NM_001199161.1|NM_001199162.1	NP_001186090.1|NP_001186091.1	O94966	UBP19_HUMAN	ubiquitin specific peptidase 19	446					ER-associated protein catabolic process|positive regulation of cell cycle process|protein deubiquitination|regulation of protein stability|response to endoplasmic reticulum stress|skeletal muscle atrophy	endoplasmic reticulum membrane|integral to membrane	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|zinc ion binding			NS(1)|breast(3)|endometrium(5)|kidney(2)|large_intestine(10)|lung(5)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00219)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		TCCATGGGTGTGCGGGTTGCC	0.602													A	49153204	T	A	49153204	3	1	728	1	0	0	0	0	1	0	0	0	17152	1696	59	5	2688	5	USP19	3	49153204	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	34231095	49153204	148869226	14	55458											
NEK11	79858	broad.mit.edu	37	chr3	130947384	130947384	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatttcagagatcccagaagAcccacttgtggctgaagagt	12	10	10	9	0	1	5	1	1	0	4	2	6	2	5	2	1	0	1	2	1	3	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:130947384A>G	ENST00000383366.4	+	15	1705	c.1412A>G	c.(1411-1413)gAc>gGc	p.D471G	NEK11_ENST00000510769.1_Missense_Mutation_p.D366G|NEK11_ENST00000510688.1_Missense_Mutation_p.D471G|NEK11_ENST00000412440.2_Missense_Mutation_p.D287G|NEK11_ENST00000508196.1_Missense_Mutation_p.D471G|NEK11_ENST00000429253.2_Missense_Mutation_p.D471G	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	471					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						ATCCCAGAAGACCCACTTGTG	0.368													G	130947384	A	G	130947384	3	3	728	1	0	0	0	0	1	0	0	0	10399	275	10	3	1480	3	NEK11	3	130947384	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	81794180	130947384	67075046	15	55459											
ZBTB38	253461	broad.mit.edu	37	chr3	141161851	141161851	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttgcctggagaggacggaCgtctgccacgaggcagagcc	8	6	15	12	3	1	2	0	0	1	2	1	6	1	4	3	4	3	1	3	4	0	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr3:141161851C>T	ENST00000514251.1	+	4	900	c.621C>T	c.(619-621)gaC>gaT	p.D207D	ZBTB38_ENST00000321464.5_Silent_p.D208D|ZBTB38_ENST00000441582.2_Silent_p.D207D			Q8NAP3	ZBT38_HUMAN	zinc finger and BTB domain containing 38	207					positive regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(3)|cervix(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	41						AGAGGACGGACGTCTGCCACG	0.512													T	141161851	C	T	141161851	2	4	728	1	0	0	0	0	0	0	0	1	17640	535	19	1		1	ZBTB38	3	141161851	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	10214467	141161851	56860579	16	55460											
TMEM33	55161	broad.mit.edu	37	chr4	41941241	41941241	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagcagcaagcttttaccaaCgtgctttgctggcaaatgct	11	11	9	10	1	0	0	0	0	0	0	0	0	0	0	1	1	8	7	1	1	5	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:41941241C>T	ENST00000504986.1	+	3	534	c.169C>T	c.(169-171)Cgt>Tgt	p.R57C	TMEM33_ENST00000325094.5_Missense_Mutation_p.R57C|TMEM33_ENST00000513702.1_Missense_Mutation_p.R57C	NM_018126.2	NP_060596.2	P57088	TMM33_HUMAN	transmembrane protein 33	57						integral to membrane|melanosome	protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9						CTTTTACCAACGTGCTTTGCT	0.458													T	41941241	C	T	41941241	3	4	728	1	0	0	0	0	1	0	0	0	16256	536	19	1	179	1	TMEM33	4	41941241	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		41941241	149213035	17	55461											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69094596	69094596	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cttcttgaagtatcactggaAatgaacctaaaagcaataag	17	10	7	7	0	2	2	1	2	1	0	2	3	2	3	1	1	2	2	1	1	8	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69094596A>G	ENST00000332644.5	-	9	1114	c.953T>C	c.(952-954)tTt>tCt	p.F318S		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	318	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TATCACTGGAAATGAACCTAA	0.358													G	69094596	A	G	69094596	3	3	728	1	0	0	0	0	1	0	0	0	16340	14	1	3	305	3	TMPRSS11B	4	69094596	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	27153355	69094596	122059680	18	55462											
TMPRSS11B	132724	broad.mit.edu	37	chr4	69095170	69095170	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataatgttttggactttccGtgtcatatatggtttattta	10	20	7	4	1	1	0	1	0	0	0	2	1	2	1	1	2	0	2	1	2	6	10			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr4:69095170G>A	ENST00000332644.5	-	8	912	c.751C>T	c.(751-753)Cgg>Tgg	p.R251W		NM_182502.3	NP_872308.2	Q86T26	TM11B_HUMAN	transmembrane protease, serine 11B	251	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|skin(1)	27						TGGACTTTCCGTGTCATATAT	0.338													A	69095170	G	A	69095170	3	1	728	1	0	0	0	0	1	0	0	0	16340	1144	40	1	511	1	TMPRSS11B	4	69095170	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	574	69095170	122059106	19	55463											
PRDM9	56979	broad.mit.edu	37	chr5	23526937	23526937	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacacaggggagaagccctaTgtctgcagggagtgtgggcg	9	6	17	9	1	1	1	0	0	1	1	1	3	1	2	1	4	2	1	1	4	2	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:23526937T>G	ENST00000296682.3	+	11	1922	c.1740T>G	c.(1738-1740)taT>taG	p.Y580*		NM_020227.2	NP_064612.2	Q9NQV7	PRDM9_HUMAN	PR domain containing 9	580					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleoplasm	histone-lysine N-methyltransferase activity|nucleic acid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(27)|lung(87)|ovary(6)|pancreas(2)|prostate(4)|skin(10)|upper_aerodigestive_tract(11)	172						AGAAGCCCTATGTCTGCAGGG	0.592										HNSCC(3;0.000094)			G	23526937	T	G	23526937	4	3	728	1	0	0	0	0	0	1	0	0	12549	1471	51	5	1778	5	PRDM9	5	23526937	Nonsense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08		23526937	157388323	20	55464											
NAIP	4671	broad.mit.edu	37	chr5	70308494	70308494	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgaagtaaaacccagcGgccgccatctcctgtggtat	10	8	10	13	2	1	1	0	1	1	0	2	1	1	1	5	2	2	2	5	2	4	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr5:70308494G>A	ENST00000517649.1	-	4	539	c.249C>T	c.(247-249)gcC>gcT	p.A83A	NAIP_ENST00000508426.2_Silent_p.A83A|NAIP_ENST00000503719.2_Intron|NAIP_ENST00000523981.1_Intron|NAIP_ENST00000194097.4_Silent_p.A83A	NM_004536.2	NP_004527.2	Q13075	BIRC1_HUMAN	NLR family, apoptosis inhibitory protein	83					anti-apoptosis|apoptosis|nervous system development	basolateral plasma membrane|cytoplasm	caspase inhibitor activity|metal ion binding|nucleoside-triphosphatase activity|nucleotide binding			central_nervous_system(1)	1		Lung NSC(167;4.15e-05)|Prostate(74;0.00996)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;3.04e-60)|Epithelial(20;7.09e-58)|all cancers(19;1.13e-53)|Lung(70;0.0174)		AAAACCCAGCGGCCGCCATCT	0.493													A	70308494	G	A	70308494	2	1	728	1	0	0	0	0	0	0	0	1	10223	1103	39	1		1	NAIP	5	70308494	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	46781557	70308494	110606766	21	55465											
PAQR8	85315	broad.mit.edu	37	chr6	52268806	52268806	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttatttcttctcctgcccCgtgcctgagaagtacttccc	5	14	7	15	1	2	1	0	1	2	1	4	2	3	1	5	0	3	2	5	0	3	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:52268806C>T	ENST00000442253.2	+	2	969	c.795C>T	c.(793-795)ccC>ccT	p.P265P	PAQR8_ENST00000360726.3_Silent_p.P265P	NM_133367.4	NP_588608.1	Q8TEZ7	MPRB_HUMAN	progestin and adipoQ receptor family member VIII	265					cell differentiation|multicellular organismal development|oogenesis	integral to membrane|plasma membrane	receptor activity|steroid binding	p.P265P(1)		endometrium(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|skin(1)|urinary_tract(2)	17	Lung NSC(77;0.0875)					TCTCCTGCCCCGTGCCTGAGA	0.577													T	52268806	C	T	52268806	2	4	728	1	0	0	0	0	0	0	0	1	11517	639	23	1		1	PAQR8	6	52268806	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		52268806	118846261	22	55466											
SLC22A2	6582	broad.mit.edu	37	chr6	160666576	160666576	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctcttcaagtctcaggCgctaagaaaaggaatagaaa	15	10	8	8	1	3	2	2	0	2	2	5	3	4	3	1	2	0	1	1	2	7	4			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr6:160666576C>T	ENST00000366952.1	-	8	2377	c.896G>A	c.(895-897)cGc>cAc	p.R299H	SLC22A2_ENST00000366953.3_Splice_Site_p.R320H|SLC22A2_ENST00000491092.1_5'UTR			O15244	S22A2_HUMAN	solute carrier family 22 (organic cation transporter), member 2	320					body fluid secretion|neurotransmitter biosynthetic process|neurotransmitter secretion	integral to plasma membrane|membrane fraction	neurotransmitter transporter activity|organic cation transmembrane transporter activity	p.R320H(1)		breast(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(16)|prostate(2)|skin(1)	27		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.28e-17)|BRCA - Breast invasive adenocarcinoma(81;6.29e-06)		AAGTCTCAGGCGCTAAGAAAA	0.408													T	160666576	C	T	160666576	5	4	728	1	0	0	0	0	0	0	1	0	14545	782	27	1	732	1	SLC22A2	6	160666576	Splice_Site	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	108397770	160666576	10448491	23	55467											
TRIM50	135892	broad.mit.edu	37	chr7	72732892	72732892	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttgggccagccgctcccGggttccctgggcctgctcca	2	8	14	17	2	0	0	0	0	0	0	3	0	3	0	6	4	2	4	6	4	0	2	rs145742720		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:72732892G>A	ENST00000333149.2	-	4	855	c.655C>T	c.(655-657)Cgg>Tgg	p.R219W	TRIM50_ENST00000453152.1_Missense_Mutation_p.R219W	NM_178125.2	NP_835226.2	Q86XT4	TRI50_HUMAN	tripartite motif containing 50	219						cytoplasm|intracellular membrane-bounded organelle	ligase activity|zinc ion binding			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(1)|skin(2)	20						AGCCGCTCCCGGGTTCCCTGG	0.667													A	72732892	G	A	72732892	3	1	728	1	0	0	0	0	1	0	0	0	16627	1115	39	1	824	1	TRIM50	7	72732892	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		72732892	86405771	24	55468											
LIMK1	3984	broad.mit.edu	37	chr7	73513561	73513561	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcactcacacaccgtccgcGtccaggggtgagtggccggc	7	5	14	15	4	1	1	1	1	0	0	3	1	3	1	4	4	1	1	4	4	0	0			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:73513561G>T	ENST00000418310.1	+	5	793	c.691G>T	c.(691-693)Gtc>Ttc	p.V231F	LIMK1_ENST00000336180.2_Missense_Mutation_p.V201F|LIMK1_ENST00000538333.3_Missense_Mutation_p.V167F|LIMK1_ENST00000491052.1_3'UTR			P53667	LIMK1_HUMAN	LIM domain kinase 1	201	PDZ.				actin cytoskeleton organization|axon guidance|negative regulation of ubiquitin-protein ligase activity|positive regulation of actin filament bundle assembly|positive regulation of axon extension|Rho protein signal transduction	cytosol|growth cone|nucleus	ATP binding|heat shock protein binding|protein serine/threonine kinase activity|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	21		Lung NSC(55;0.137)				CACCGTCCGCGTCCAGGGGTG	0.647													T	73513561	G	T	73513561	3	4	728	1	0	0	0	0	1	0	0	0	8861	1145	40	4	619	4	LIMK1	7	73513561	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	780669	73513561	85625102	25	55469											
OR2AE1	81392	broad.mit.edu	37	chr7	99474198	99474198	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgtgaattagggagttcacGgatgcccccaaccatgacat	12	9	10	10	1	1	2	1	2	0	0	1	4	1	4	3	2	2	1	3	2	3	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr7:99474198G>A	ENST00000316368.2	-	1	482	c.459C>T	c.(457-459)tcC>tcT	p.S153S		NM_001005276.1	NP_001005276.1	Q8NHA4	O2AE1_HUMAN	olfactory receptor, family 2, subfamily AE, member 1	153					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(2)	11	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)					GGGAGTTCACGGATGCCCCCA	0.507													A	99474198	G	A	99474198	2	1	728	1	0	0	0	0	0	0	0	1	11059	1103	39	1		1	OR2AE1	7	99474198	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	25960637	99474198	59664465	26	55470											
ZNF7	7553	broad.mit.edu	37	chr8	146068294	146068294	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atatcttattgaacaccagaGaatacacactagggcccagt	15	9	7	10	0	1	2	0	1	1	1	1	3	1	2	2	1	2	0	2	1	6	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr8:146068294G>A	ENST00000528372.1	+	5	2042	c.1802G>A	c.(1801-1803)aGa>aAa	p.R601K	ZNF7_ENST00000544249.1_Missense_Mutation_p.R505K|ZNF7_ENST00000525266.1_Intron|ZNF7_ENST00000446747.2_Missense_Mutation_p.R612K|ZNF7_ENST00000325241.6_Missense_Mutation_p.R601K|ZNF7_ENST00000325217.5_Intron			P17097	ZNF7_HUMAN	zinc finger protein 7	601					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|ovary(5)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	all_cancers(97;1.03e-11)|all_epithelial(106;6.69e-11)|Lung NSC(106;4.08e-05)|all_lung(105;0.000125)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)	Breast(495;0.0812)|Ovarian(118;0.0822)|Acute lymphoblastic leukemia(644;0.143)	Epithelial(56;8.75e-39)|OV - Ovarian serous cystadenocarcinoma(54;1.13e-38)|all cancers(56;8.48e-34)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;2.11e-07)		GAACACCAGAGAATACACACT	0.453													A	146068294	G	A	146068294	3	1	728	1	0	0	0	0	1	0	0	0	18203	942	33	2	1816	2	ZNF7	8	146068294	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08		146068294	295728	27	55471											
USP20	10868	broad.mit.edu	37	chr9	132620334	132620334	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctctcttcccaggttgcCtgcccctatgttggctgcgg	2	13	10	16	1	1	0	0	0	1	0	4	0	3	0	5	3	3	3	5	3	1	4			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:132620334C>T	ENST00000315480.4	+	5	299	c.141C>T	c.(139-141)gcC>gcT	p.A47A	USP20_ENST00000358355.1_Silent_p.A47A|USP20_ENST00000372429.3_Silent_p.A47A			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	47					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				CCCAGGTTGCCTGCCCCTATG	0.557													T	132620334	C	T	132620334	2	4	728	1	0	0	0	0	0	0	0	1	17154	668	24	2		2	USP20	9	132620334	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		132620334	8593097	28	55472											
GBGT1	26301	broad.mit.edu	37	chr9	136029210	136029210	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tataccctggccacctgcccCccgaagactgccccaccata	9	6	6	20	1	0	1	0	0	0	1	0	2	0	1	9	1	3	0	9	1	4	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr9:136029210C>T	ENST00000372043.3	-	7	1064	c.779G>A	c.(778-780)gGg>gAg	p.G260E	RALGDS_ENST00000542690.1_Intron|GBGT1_ENST00000472281.1_5'UTR|GBGT1_ENST00000540636.1_Silent_p.G249G|GBGT1_ENST00000372040.3_Silent_p.G266G	NM_021996.4	NP_068836.2			globoside alpha-1,3-N-acetylgalactosaminyltransferase 1											breast(2)|endometrium(1)|kidney(4)|lung(2)|skin(1)	10				OV - Ovarian serous cystadenocarcinoma(145;3.49e-06)|Epithelial(140;2.59e-05)		CCACCTGCCCCCCGAAGACTG	0.612													T	136029210	C	T	136029210	3	4	728	1	0	0	0	0	1	0	0	0	6326	610	22	2	249	2	GBGT1	9	136029210	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	3408876	136029210	5184221	29	55473											
CHST3	9469	broad.mit.edu	37	chr10	73767262	73767264	+	In_Frame_Del	DEL	TCT	TCT	-																															cttcaaccagcagggcaacaTcttctacctcttcgagccgc																								rs145538723		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr10:73767262_73767264delTCT	ENST00000373115.4	+	3	910_912	c.473_475delTCT	c.(472-477)atcttc>atc	p.F159del		NM_004273.4	NP_004264.2	Q7LGC8	CHST3_HUMAN	carbohydrate (chondroitin 6) sulfotransferase 3	159					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 6-sulfotransferase activity			endometrium(1)|lung(5)	6						CAGGGCAACATCTTCTACCTCTT	0.7													-	73767264	TCT	-	73767262	7	5	728	1	0	1	0	1	0	0	0	0	3435	1435	50	0	479	0	CHST3	10	73767262	In_Frame_Del	DEL	TCT	TCGA-S9-A7QW-01A-11D-A34A-08		73767262	61767485	30	55474											
OR51B6	390058	broad.mit.edu	37	chr11	5373614	5373614	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acccatttatctatagcattAaaactaagcagattcagagt	16	12	5	8	0	2	2	1	0	1	2	2	2	2	2	1	0	3	2	1	0	6	7			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:5373614A>G	ENST00000380219.1	+	1	877	c.877A>G	c.(877-879)Aaa>Gaa	p.K293E	HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380259.2_Intron|AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380252.1_Intron	NM_001004750.1	NP_001004750.1	Q9H340	O51B6_HUMAN	olfactory receptor, family 51, subfamily B, member 6	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	21		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;2.9e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTATAGCATTAAAACTAAGCA	0.408													G	5373614	A	G	5373614	3	3	728	1	0	0	0	0	1	0	0	0	11168	363	13	3	879	3	OR51B6	11	5373614	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08		5373614	129632902	31	55475											
OR4A5	81318	broad.mit.edu	37	chr11	51411540	51411540	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctcatctctgaatttctcaAcgtatatattaaaggactca	13	15	4	9	1	4	1	3	1	3	0	7	2	4	2	0	1	1	1	0	1	7	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:51411540A>T	ENST00000319760.6	-	1	908	c.856T>A	c.(856-858)Ttg>Atg	p.L286M		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	286					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				GAATTTCTCAACGTATATATT	0.333													T	51411540	A	T	51411540	3	4	728	1	0	0	0	0	1	0	0	0	11119	40	2	5	95	5	OR4A5	11	51411540	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	46037926	51411540	83594976	32	55476											
OR5M9	390162	broad.mit.edu	37	chr11	56230565	56230565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atagacctccacgtggacaaCggcaatgaaaaagtagcact	16	6	9	10	2	0	2	0	1	0	1	1	3	1	3	2	2	2	3	2	2	6	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr11:56230565C>T	ENST00000279791.1	-	1	312	c.313G>A	c.(313-315)Gtt>Att	p.V105I		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	105					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ACGTGGACAACGGCAATGAAA	0.473													T	56230565	C	T	56230565	3	4	728	1	0	0	0	0	1	0	0	0	11253	536	19	1	621	1	OR5M9	11	56230565	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	4819025	56230565	78775951	33	55477											
CDKN1B	1027	broad.mit.edu	37	chr12	12870928	12870929	+	Frame_Shift_Ins	INS	-	-	GGAAGAGGCG																															gagaagcactgcagagacatINSggaagaggcgagccagcgca																										TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:12870928_12870929insGGAAGAGGCG	ENST00000228872.4	+	1	871_872	c.155_156insGGAAGAGGCG	c.(154-159)atggaafs	p.-53fs	CDKN1B_ENST00000396340.1_Frame_Shift_Ins_p.-53fs|CDKN1B_ENST00000477087.1_Intron	NM_004064.3	NP_004055.1	P46527	CDN1B_HUMAN	cyclin-dependent kinase inhibitor 1B (p27, Kip1)						autophagic cell death|cell cycle arrest|cellular response to lithium ion|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of transcription, DNA-dependent|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of protein catabolic process|S phase of mitotic cell cycle	cytosol|endosome|nucleoplasm	cyclin-dependent protein kinase inhibitor activity|protein phosphatase binding|transforming growth factor beta receptor, cytoplasmic mediator activity	p.M52I(1)		breast(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(5)	13		Prostate(47;0.0322)|all_epithelial(100;0.159)		BRCA - Breast invasive adenocarcinoma(232;0.0336)		TGCAGAGACATGGAAGAGGCGA	0.594													GGAAGAGGCG	12870929	-	GGAAGAGGCG	12870928	7	5	728	1	0	1	1	0	0	0	0	0	3189	1464	51	0	157	0	CDKN1B	12	12870928	Frame_Shift_Ins	INS	-	TCGA-S9-A7QW-01A-11D-A34A-08		12870928	120980967	34	55478											
NT5DC3	51559	broad.mit.edu	37	chr12	104187730	104187730	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cataccaatgtctgcttcaaTtgctctgtacattattcctt	9	17	4	11	0	3	0	1	0	2	0	4	0	4	0	2	0	4	3	2	0	5	7			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr12:104187730T>C	ENST00000392876.3	-	7	839	c.799A>G	c.(799-801)Att>Gtt	p.I267V		NM_001031701.2	NP_001026871.1	Q86UY8	NT5D3_HUMAN	5'-nucleotidase domain containing 3	267							hydrolase activity|metal ion binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(15)|ovary(2)|skin(1)|stomach(2)	30						TCTGCTTCAATTGCTCTGTAC	0.403													C	104187730	T	C	104187730	3	2	728	1	0	0	0	0	1	0	0	0	10768	1493	52	3	879	3	NT5DC3	12	104187730	Missense_Mutation	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	91316802	104187730	29664165	35	55479											
SYT16	83851	broad.mit.edu	37	chr14	62542108	62542108	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccatgtggagtccagAggcaagttatttgtttttca	8	15	9	9	0	1	1	1	0	0	1	4	2	4	2	3	2	0	3	3	2	2	4			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:62542108A>G	ENST00000430451.2	+	3	1189	c.992A>G	c.(991-993)gAg>gGg	p.E331G	RP11-355I22.5_ENST00000553990.1_lincRNA|SYT16_ENST00000446982.2_Splice_Site_p.E331G	NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	331										central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		TGGAGTCCAGAGGCAAGTTAT	0.443													G	62542108	A	G	62542108	5	3	728	1	0	0	0	0	0	0	1	0	15569	318	11	3	1002	3	SYT16	14	62542108	Splice_Site	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08		62542108	44807432	36	55480											
SERPINA5	5104	broad.mit.edu	37	chr14	95057144	95057144	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctatcagctggagaaaGtcctccccagtctggggatc	8	9	11	13	0	2	1	1	0	1	1	6	3	5	2	4	3	1	2	4	3	2	1	rs61761874		TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr14:95057144G>T	ENST00000329597.7	+	5	1159	c.949G>T	c.(949-951)Gtc>Ttc	p.V317F	SERPINA5_ENST00000554276.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000554866.1_Missense_Mutation_p.V317F|SERPINA5_ENST00000553780.1_Missense_Mutation_p.V317F	NM_000624.5	NP_000615.3	P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	317					fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	GCTGGAGAAAGTCCTCCCCAG	0.517													T	95057144	G	T	95057144	3	4	728	1	0	0	0	0	1	0	0	0	14185	1029	36	4	959	4	SERPINA5	14	95057144	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	32515036	95057144	12292396	37	55481											
PEX11A	8800	broad.mit.edu	37	chr15	90226670	90226670	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcctgctatagaggacaCaagacctccaagtccaatga	14	7	8	12	0	0	3	0	1	0	2	2	4	2	4	4	1	2	1	4	1	5	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr15:90226670C>A	ENST00000300056.3	-	3	831	c.682G>T	c.(682-684)Gtg>Ttg	p.V228L	PEX11A_ENST00000557982.1_Intron|PEX11A_ENST00000559170.1_3'UTR|PEX11A_ENST00000561224.1_Intron|PEX11A_ENST00000561257.1_Missense_Mutation_p.V197L	NM_001271573.1	NP_001258502.1	O75192	PX11A_HUMAN	peroxisomal biogenesis factor 11 alpha	228					cellular lipid metabolic process|peroxisome fission|signal transduction	integral to peroxisomal membrane				endometrium(2)|large_intestine(2)|lung(3)	7	Lung NSC(78;0.0237)|all_lung(78;0.0478)		KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|BRCA - Breast invasive adenocarcinoma(143;0.128)			ATAGAGGACACAAGACCTCCA	0.463													A	90226670	C	A	90226670	3	1	728	1	0	0	0	0	1	0	0	0	11814	478	17	4	65	4	PEX11A	15	90226670	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		90226670	12304722	38	55482											
PELP1	27043	broad.mit.edu	37	chr17	4579733	4579733	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tagctcctgctcccagctctCggtgtgcttcaggccttggg	3	12	12	14	1	2	0	1	0	1	0	5	0	4	0	3	3	4	4	3	3	1	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:4579733C>T	ENST00000301396.4	-	7	997	c.772G>A	c.(772-774)Gag>Aag	p.E258K	PELP1_ENST00000572293.1_Missense_Mutation_p.E308K|PELP1_ENST00000436683.2_Missense_Mutation_p.E111K|PELP1_ENST00000574876.1_Missense_Mutation_p.E258K|AC091153.4_ENST00000441700.2_RNA|PELP1_ENST00000269230.7_Missense_Mutation_p.E258K			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	258					transcription, DNA-dependent	cytoplasm|MLL1 complex	protein binding			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						TCCCAGCTCTCGGTGTGCTTC	0.607													T	4579733	C	T	4579733	3	4	728	1	0	0	0	0	1	0	0	0	11801	893	31	1	2664	1	PELP1	17	4579733	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		4579733	76615477	39	55483											
TP53	7157	broad.mit.edu	37	chr17	7578211	7578211	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agggcaccaccacactatgtCgaaaagtgtttctgtcatcc	11	10	8	12	1	2	0	1	0	1	0	4	1	3	0	3	1	0	2	3	1	3	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:7578211C>T	ENST00000420246.2	-	6	770	c.638G>A	c.(637-639)cGa>cAa	p.R213Q	TP53_ENST00000455263.2_Missense_Mutation_p.R213Q|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Missense_Mutation_p.R213Q|TP53_ENST00000269305.4_Missense_Mutation_p.R213Q|TP53_ENST00000445888.2_Missense_Mutation_p.R213Q|TP53_ENST00000359597.4_Missense_Mutation_p.R213Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	213	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (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.R213L(38)|p.R213Q(29)|p.0?(8)|p.R213P(5)|p.?(5)|p.R120L(4)|p.R81L(4)|p.R120Q(2)|p.R81Q(2)|p.D208_V216delDRNTFRHSV(1)|p.D207_R213delDDRNTFR(1)|p.T211_S215delTFRHS(1)|p.D208fs*1(1)|p.R213>L(1)|p.R209_R213delRNTFR(1)|p.R213fs*2(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.R209fs*6(1)|p.R213W(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)		CACACTATGTCGAAAAGTGTT	0.532		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)			T	7578211	C	T	7578211	3	4	728	1	0	0	0	0	1	0	0	0	16482	884	31	1	656	1	TP53	17	7578211	Missense_Mutation	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	2998478	7578211	73616999	40	55484											
CSHL1	1444	broad.mit.edu	37	chr17	61987185	61987185	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtagttcttgagcagtgcGtcatggttgtgcgagtttgt	5	15	14	7	3	2	1	1	1	1	0	2	2	2	1	1	1	3	5	1	1	1	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr17:61987185G>A	ENST00000259003.10	-	5	513	c.369C>T	c.(367-369)gaC>gaT	p.D123D	CSHL1_ENST00000561003.1_3'UTR|CSHL1_ENST00000450719.3_3'UTR|CSHL1_ENST00000438387.2_Silent_p.D102D|CSHL1_ENST00000558099.1_5'UTR|CSHL1_ENST00000346606.6_Silent_p.D91D|CSHL1_ENST00000309894.5_Silent_p.D185D			Q14406	CSHL_HUMAN	chorionic somatomammotropin hormone-like 1	185						extracellular region	hormone activity|metal ion binding			endometrium(3)|lung(6)	9						TGAGCAGTGCGTCATGGTTGT	0.567													A	61987185	G	A	61987185	2	1	728	1	0	0	0	0	0	0	0	1	3975	1136	40	1		1	CSHL1	17	61987185	Silent	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	54408974	61987185	19208025	41	55485											
OSCAR	126014	broad.mit.edu	37	chr19	54600417	54600417	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	actgtagccggctgagctccCagccatggcttagggtggta	7	9	14	11	1	0	1	0	1	0	0	1	1	1	1	3	4	3	5	3	4	3	3			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54600417C>T	ENST00000284648.6	-	4	302	c.105G>A	c.(103-105)ctG>ctA	p.L35L	OSCAR_ENST00000351806.4_Silent_p.L24L|OSCAR_ENST00000356532.3_Silent_p.L39L|OSCAR_ENST00000391761.1_Silent_p.L24L|OSCAR_ENST00000358375.4_Silent_p.L35L|OSCAR_ENST00000359649.4_Silent_p.L39L|OSCAR_ENST00000391760.1_Intron			Q8IYS5	OSCAR_HUMAN	osteoclast associated, immunoglobulin-like receptor	35	Ig-like 1.					extracellular region|integral to membrane|plasma membrane	receptor activity			large_intestine(1)|skin(1)	2	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)					GCTGAGCTCCCAGCCATGGCT	0.602													T	54600417	C	T	54600417	2	4	728	1	0	0	0	0	0	0	0	1	11361	581	21	2		2	OSCAR	19	54600417	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		54600417	4528566	42	55486											
PRPF31	26121	broad.mit.edu	37	chr19	54628008	54628008	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacaccggctacatctaccaCagtgacatcgtgcagtccct	10	8	7	16	2	1	1	0	1	1	0	3	1	2	1	3	1	3	2	3	1	2	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr19:54628008C>T	ENST00000321030.4	+	8	1177	c.828C>T	c.(826-828)caC>caT	p.H276H	PRPF31_ENST00000498612.1_3'UTR|PRPF31_ENST00000391755.1_Silent_p.H276H|PRPF31_ENST00000419967.1_Silent_p.H276H|AC012314.8_ENST00000452097.1_RNA	NM_015629.3	NP_056444.3	Q8WWY3	PRP31_HUMAN	pre-mRNA processing factor 31	276	Nop.				assembly of spliceosomal tri-snRNP	Cajal body|MLL1 complex|nuclear speck|U4 snRNP|U4/U6 x U5 tri-snRNP complex|U4atac snRNP	RNA binding|snRNP binding			breast(1)|kidney(1)|large_intestine(2)|lung(3)|ovary(2)|urinary_tract(3)	12	all_cancers(19;0.00681)|all_epithelial(19;0.00362)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					ACATCTACCACAGTGACATCG	0.667													T	54628008	C	T	54628008	2	4	728	1	0	0	0	0	0	0	0	1	12652	477	17	2		2	PRPF31	19	54628008	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08	27591	54628008	4500975	43	55487											
TRABD	80305	broad.mit.edu	37	chr22	50636345	50636345	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagacctgcaccgcaccatCgtctcggagcgcgacgtcta	8	6	10	17	6	2	1	0	0	2	1	4	3	2	2	4	1	2	2	4	1	1	1			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chr22:50636345C>T	ENST00000303434.4	+	8	884	c.765C>T	c.(763-765)atC>atT	p.I255I	TRABD_ENST00000380909.4_Silent_p.I255I|TRABD_ENST00000395829.1_Silent_p.I255I|TRABD_ENST00000395827.1_Silent_p.I255I	NM_025204.2	NP_079480.2	Q9H4I3	TRABD_HUMAN	TraB domain containing	255										breast(1)|central_nervous_system(1)|large_intestine(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	7		all_cancers(38;1.07e-07)|all_epithelial(38;9.6e-07)|all_lung(38;0.00141)|Breast(42;0.00387)|Lung NSC(38;0.0199)|Ovarian(80;0.142)|Lung SC(80;0.162)		LUAD - Lung adenocarcinoma(64;0.105)		ACCGCACCATCGTCTCGGAGC	0.652													T	50636345	C	T	50636345	2	4	728	1	0	0	0	0	0	0	0	1	16536	874	31	1		1	TRABD	22	50636345	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		50636345	668221	44	55488											
DMD	1756	broad.mit.edu	37	chrX	32456373	32456373	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	catacctcttcatgtagttcCctccaacgagaattaaatgt	12	13	5	11	1	2	1	1	0	1	1	4	2	4	1	3	0	2	2	3	0	6	5			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:32456373C>T	ENST00000357033.4	-	29	4262	c.4056G>A	c.(4054-4056)agG>agA	p.R1352R	DMD_ENST00000378677.2_Silent_p.R1348R	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1352					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CATGTAGTTCCCTCCAACGAG	0.383													T	32456373	C	T	32456373	2	4	728	1	0	0	0	0	0	0	0	1	4619	622	22	2		2	DMD	23	32456373	Silent	SNP	C	TCGA-S9-A7QW-01A-11D-A34A-08		32456373	122814187	45	55489											
USP9X	8239	broad.mit.edu	37	chrX	41069807	41069807	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cgtgaacaacacgatgctttAgaattttttaattcattggt	12	16	7	6	2	1	2	1	1	0	1	1	3	1	2	0	1	3	1	0	1	5	7			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:41069807A>C	ENST00000324545.8	+	33	5694	c.5061A>C	c.(5059-5061)ttA>ttC	p.L1687F	USP9X_ENST00000378308.2_Missense_Mutation_p.L1687F	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACGATGCTTTAGAATTTTTTA	0.353													C	41069807	A	C	41069807	3	2	728	1	0	0	0	0	1	0	0	0	17192	417	15	5	5187	5	USP9X	23	41069807	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	8613434	41069807	114200753	46	55490											
ZMYM3	9203	broad.mit.edu	37	chrX	70469386	70469386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggaagaggagctcagggccAggactcccggtcttggtgta	8	8	16	9	1	2	1	1	0	1	1	3	4	3	4	2	6	1	2	2	6	2	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:70469386A>G	ENST00000373998.1	-	7	2092	c.1395T>C	c.(1393-1395)ccT>ccC	p.P465P	ZMYM3_ENST00000489332.1_5'UTR|ZMYM3_ENST00000373978.1_3'UTR|ZMYM3_ENST00000353904.2_Silent_p.P465P|ZMYM3_ENST00000373982.1_Silent_p.P467P|ZMYM3_ENST00000373981.1_Silent_p.P465P|ZMYM3_ENST00000314425.5_Silent_p.P465P|ZMYM3_ENST00000373984.3_Silent_p.P467P|ZMYM3_ENST00000373988.1_Silent_p.P467P	NM_001171162.1	NP_001164633.1	Q14202	ZMYM3_HUMAN	zinc finger, MYM-type 3	465					multicellular organismal development	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(7)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(12)|lung(17)|ovary(1)|prostate(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	Renal(35;0.156)					GCTCAGGGCCAGGACTCCCGG	0.557													G	70469386	A	G	70469386	2	3	728	1	0	0	0	0	0	0	0	1	17802	175	7	3		3	ZMYM3	23	70469386	Silent	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	29399579	70469386	84801174	47	55491											
ATRX	546	broad.mit.edu	37	chrX	76939556	76939557	+	Frame_Shift_Ins	INS	-	-	A																															ttcttaatatcagccaacacINSagacttaaaagccttaagct																										TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:76939556_76939557insA	ENST00000373344.5	-	9	1405_1406	c.1191_1192insT	c.(1189-1194)tctgtgfs	p.V398fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Ins_p.V360fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	398					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)	TCAGCCAACACAGACTTAAAAG	0.361			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76939557	-	A	76939556	7	5	728	1	0	1	1	0	0	0	0	0	1213	478	17	0	6394	0	ATRX	23	76939556	Frame_Shift_Ins	INS	-	TCGA-S9-A7QW-01A-11D-A34A-08	6470170	76939556	78331004	48	55492											
MUM1L1	139221	broad.mit.edu	37	chrX	105450235	105450235	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaccctggctgttccctcTgaatgctctgctttctcaga	6	13	9	13	0	3	3	1	1	3	2	5	4	4	3	2	1	2	4	2	1	1	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:105450235T>C	ENST00000337685.2	+	5	1595	c.810T>C	c.(808-810)tcT>tcC	p.S270S	MUM1L1_ENST00000372552.1_Silent_p.S270S|MUM1L1_ENST00000357175.2_Silent_p.S270S	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	270										autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CTGTTCCCTCTGAATGCTCTG	0.473													C	105450235	T	C	105450235	2	2	728	1	0	0	0	0	0	0	0	1	10062	1567	55	3		3	MUM1L1	23	105450235	Silent	SNP	T	TCGA-S9-A7QW-01A-11D-A34A-08	28510679	105450235	49820325	49	55493											
MTMR1	8776	broad.mit.edu	37	chrX	149905114	149905114	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agtgcttacccaaatgcagaActtgtgttcttggagatcca	11	12	9	9	0	1	2	0	0	1	2	2	3	2	2	2	1	4	3	2	1	3	4			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:149905114A>T	ENST00000445323.2	+	11	1249	c.1128A>T	c.(1126-1128)gaA>gaT	p.E376D	MTMR1_ENST00000541925.1_Missense_Mutation_p.E274D|MTMR1_ENST00000544228.1_Missense_Mutation_p.E368D|MTMR1_ENST00000451863.2_Missense_Mutation_p.E368D|MTMR1_ENST00000370390.3_Missense_Mutation_p.E368D|MTMR1_ENST00000538506.1_Intron			Q13613	MTMR1_HUMAN	myotubularin related protein 1	368	Myotubularin phosphatase.|Substrate binding (By similarity).					plasma membrane	protein tyrosine phosphatase activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					CAAATGCAGAACTTGTGTTCT	0.403													T	149905114	A	T	149905114	3	4	728	1	0	0	0	0	1	0	0	0	10014	40	2	5	1142	5	MTMR1	23	149905114	Missense_Mutation	SNP	A	TCGA-S9-A7QW-01A-11D-A34A-08	44454879	149905114	5365446	50	55494											
PLXNB3	5365	broad.mit.edu	37	chrX	153032991	153032991	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acaacaacagctacgtcgggGcctttgccgacgcccgctcc	8	6	10	17	5	0	0	0	0	0	0	2	1	1	0	4	2	5	2	4	2	3	2			TCGA-S9-A7QW-01A-11D-A34A-08	TCGA-S9-A7QW-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	cbd3bb08-b9cb-493c-a634-6d10d975f62f	e5d478a9-7b9f-4b05-9cb0-01d860c3b005	g.chrX:153032991G>C	ENST00000538966.1	+	4	1049	c.778G>C	c.(778-780)Gcc>Ccc	p.A260P	PLXNB3_ENST00000361971.5_Missense_Mutation_p.A237P|PLXNB3_ENST00000538282.1_Intron|PLXNB3_ENST00000538776.1_Intron|PLXNB3_ENST00000538543.1_Intron	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	237	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					CTACGTCGGGGCCTTTGCCGA	0.721													C	153032991	G	C	153032991	3	2	728	1	0	0	0	0	1	0	0	0	12202	1203	42	4	833	4	PLXNB3	23	153032991	Missense_Mutation	SNP	G	TCGA-S9-A7QW-01A-11D-A34A-08	3127877	153032991	2237569	51	55495											
RABGAP1L	9910	broad.mit.edu	37	chr1	174926682	174926682	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagacccaatggatagatAcaaggtatgagaaatatgtt	17	9	11	4	0	0	3	0	1	0	3	0	6	0	5	1	3	1	2	1	3	8	5			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:174926682A>G	ENST00000489615.1	+	3	787	c.386A>G	c.(385-387)tAc>tGc	p.Y129C	RABGAP1L_ENST00000367686.3_3'UTR|RABGAP1L_ENST00000486220.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000478442.1_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000347255.2_Missense_Mutation_p.Y137C|RABGAP1L_ENST00000251507.4_Missense_Mutation_p.Y810C|RABGAP1L_ENST00000367687.1_Missense_Mutation_p.Y136C|RABGAP1L_ENST00000392064.2_Missense_Mutation_p.Y67C|RABGAP1L_ENST00000325589.5_Missense_Mutation_p.Y117C	NM_001243765.1	NP_001230694.1	Q5R372	RBG1L_HUMAN	RAB GTPase activating protein 1-like	810	PID.				regulation of protein localization	early endosome|Golgi apparatus|nucleus	Rab GTPase activator activity			NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						ATGGATAGATACAAGGTATGA	0.423													G	174926682	A	G	174926682	3	3	729	1	0	0	0	0	1	0	0	0	13053	391	14	3	2618	3	RABGAP1L	1	174926682	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		174926682	74323939	1	55496											
C4BPA	722	broad.mit.edu	37	chr1	207287489	207287489	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tatcatttgctgccccgatgGatattacgttgactgagaca	10	13	9	9	2	1	2	1	2	0	1	1	5	1	3	2	1	3	2	2	1	3	5			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr1:207287489G>A	ENST00000367070.3	+	3	381	c.187G>A	c.(187-189)Gat>Aat	p.D63N		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	63	Sushi 1.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						TGCCCCGATGGATATTACGTT	0.478													A	207287489	G	A	207287489	3	1	729	1	0	0	0	0	1	0	0	0	2271	1174	41	2	193	2	C4BPA	1	207287489	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	32360807	207287489	41963132	2	55497											
R3HDM1	23518	broad.mit.edu	37	chr2	136467088	136467088	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcagttcccagcagcttCaaggccaccaatgtacaggt	11	8	9	13	0	1	0	1	0	0	0	2	0	2	0	3	2	4	5	3	2	3	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:136467088C>A	ENST00000264160.4	+	21	2810	c.2440C>A	c.(2440-2442)Caa>Aaa	p.Q814K	R3HDM1_ENST00000409606.1_Missense_Mutation_p.Q815K|R3HDM1_ENST00000409478.1_Missense_Mutation_p.Q686K|R3HDM1_ENST00000329971.3_Missense_Mutation_p.Q685K|R3HDM1_ENST00000410054.1_Missense_Mutation_p.Q759K	NM_001282798.1|NM_015361.2	NP_001269727.1|NP_056176.2	Q15032	R3HD1_HUMAN	R3H domain containing 1	814							nucleic acid binding			breast(2)|endometrium(6)|kidney(5)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(3)	38				BRCA - Breast invasive adenocarcinoma(221;0.127)		CCAGCAGCTTCAAGGCCACCA	0.383													A	136467088	C	A	136467088	3	1	729	1	0	0	0	0	1	0	0	0	12975	827	29	4	2514	4	R3HDM1	2	136467088	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		136467088	106732285	3	55498											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	729	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	72646024	209113112	34086261	4	55499											
ZBTB20	26137	broad.mit.edu	37	chr3	114058161	114058161	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttctgggtgaagcgcttgttGcagatactacactggtatgc	8	13	12	8	1	1	2	0	1	1	1	1	2	1	2	0	2	5	4	0	2	4	6			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:114058161G>A	ENST00000462705.1	-	12	2519	c.1698C>T	c.(1696-1698)tgC>tgT	p.C566C	ZBTB20_ENST00000471418.1_Silent_p.C566C|ZBTB20_ENST00000481632.1_Silent_p.C566C|ZBTB20_ENST00000464560.1_Silent_p.C566C|ZBTB20_ENST00000393785.2_Silent_p.C566C|ZBTB20_ENST00000474710.1_Silent_p.C639C|ZBTB20_ENST00000357258.3_Silent_p.C566C	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	639					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AGCGCTTGTTGCAGATACTAC	0.512													A	114058161	G	A	114058161	2	1	729	1	0	0	0	0	0	0	0	1	17630	1311	46	2		2	ZBTB20	3	114058161	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		114058161	83964269	5	55500											
MED12L	116931	broad.mit.edu	37	chr3	151067902	151067902	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatccttctctatggagtcgGcaaagagcgtgatgaagcaa	13	9	11	8	2	1	3	0	2	1	1	4	4	2	4	1	2	2	2	1	2	5	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151067902G>A	ENST00000474524.1	+	15	2239	c.2201G>A	c.(2200-2202)gGc>gAc	p.G734D	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.G594D|MED12L_ENST00000491549.1_3'UTR	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	734					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			TATGGAGTCGGCAAAGAGCGT	0.423													A	151067902	G	A	151067902	3	1	729	1	0	0	0	0	1	0	0	0	9504	1203	42	2	2259	2	MED12L	3	151067902	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	37009741	151067902	46954528	6	55501											
MED12L	116931	broad.mit.edu	37	chr3	151085530	151085530	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggacgtcgtgcagcatgtcGcacttccctctcttctagca	7	11	9	14	3	2	0	0	0	2	0	6	1	3	1	1	1	3	4	1	1	1	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:151085530G>A	ENST00000474524.1	+	22	3357	c.3319G>A	c.(3319-3321)Gca>Aca	p.A1107T	P2RY12_ENST00000302632.3_Intron|MED12L_ENST00000273432.4_Missense_Mutation_p.A967T	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	1107					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex				NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCATGTCGCACTTCCCTC	0.453													A	151085530	G	A	151085530	3	1	729	1	0	0	0	0	1	0	0	0	9504	1087	38	1	3405	1	MED12L	3	151085530	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	17628	151085530	46936900	7	55502											
ZBBX	79740	broad.mit.edu	37	chr3	167039968	167039968	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgtcttctttaagttcaataTtaagtggttctctccaaatt	10	19	5	7	0	4	0	1	0	3	0	6	0	5	0	1	1	0	2	1	1	5	8			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr3:167039968T>C	ENST00000392766.2	-	12	1260	c.920A>G	c.(919-921)aAt>aGt	p.N307S	ZBBX_ENST00000455345.2_Missense_Mutation_p.N307S|ZBBX_ENST00000307529.5_Missense_Mutation_p.N307S|ZBBX_ENST00000392767.2_Missense_Mutation_p.N307S|ZBBX_ENST00000392764.1_Missense_Mutation_p.N278S|ZBBX_ENST00000469220.1_Intron	NM_001199201.1|NM_024687.3	NP_001186130.1|NP_078963.2	A8MT70	ZBBX_HUMAN	zinc finger, B-box domain containing	307						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(9)|liver(1)|lung(38)|ovary(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)	70						AAGTTCAATATTAAGTGGTTC	0.279													C	167039968	T	C	167039968	3	2	729	1	0	0	0	0	1	0	0	0	17618	1493	52	3	1522	3	ZBBX	3	167039968	Missense_Mutation	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08	15954438	167039968	30982462	8	55503											
RGS12	6002	broad.mit.edu	37	chr4	3318022	3318022	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttcgggacaggcaccctGtgtgctcagctgcgtcatga	6	10	13	12	2	2	1	2	1	0	0	3	2	2	2	1	2	3	4	1	2	0	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:3318022G>T	ENST00000336727.3	+	2	1029	c.125G>T	c.(124-126)tGt>tTt	p.C42F	RGS12_ENST00000344733.5_Missense_Mutation_p.C42F|RGS12_ENST00000543385.1_Missense_Mutation_p.C42F|RGS12_ENST00000382788.3_Missense_Mutation_p.C42F	NM_002926.3	NP_002917.1	O14924	RGS12_HUMAN	regulator of G-protein signaling 12	42	PDZ.					condensed nuclear chromosome|cytoplasm|plasma membrane	GTPase activator activity|receptor signaling protein activity			autonomic_ganglia(1)|breast(4)|endometrium(3)|kidney(2)|large_intestine(9)|lung(16)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		CAGGCACCCTGTGTGCTCAGC	0.612													T	3318022	G	T	3318022	3	4	729	1	0	0	0	0	1	0	0	0	13384	1377	48	4	127	4	RGS12	4	3318022	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		3318022	187836254	9	55504											
USP53	54532	broad.mit.edu	37	chr4	120193028	120193028	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaaataaaggccttgtagaGggtaaagtgcatggtgataa	17	9	12	3	0	0	2	0	1	0	1	0	2	0	2	1	3	1	3	1	3	8	5			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr4:120193028G>C	ENST00000450251.1	+	12	2557	c.2013G>C	c.(2011-2013)gaG>gaC	p.E671D	USP53_ENST00000274030.6_Missense_Mutation_p.E671D			Q70EK8	UBP53_HUMAN	ubiquitin specific peptidase 53	671					ubiquitin-dependent protein catabolic process		ubiquitin thiolesterase activity			breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(5)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	27						GCCTTGTAGAGGGTAAAGTGC	0.393													C	120193028	G	C	120193028	3	2	729	1	0	0	0	0	1	0	0	0	17186	991	35	4	2059	4	USP53	4	120193028	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	116875006	120193028	70961248	10	55505											
SPINK7	84651	broad.mit.edu	37	chr5	147693711	147693711	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagtggtggccatcccctgcCccatcacatacctaccagtt	8	9	7	17	0	1	0	1	0	0	0	2	0	2	0	7	2	3	1	7	2	2	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:147693711C>T	ENST00000274565.4	+	3	197	c.136C>T	c.(136-138)Ccc>Tcc	p.P46S	SPINK7_ENST00000514394.1_3'UTR|RP11-373N22.3_ENST00000501695.3_RNA|SPINK7_ENST00000523535.1_Missense_Mutation_p.P20S	NM_032566.2	NP_115955.1	P58062	ISK7_HUMAN	serine peptidase inhibitor, Kazal type 7 (putative)	46	Kazal-like.					extracellular region	protein binding|serine-type endopeptidase inhibitor activity			large_intestine(2)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CATCCCCTGCCCCATCACATA	0.463													T	147693711	C	T	147693711	3	4	729	1	0	0	0	0	1	0	0	0	15160	623	22	2	146	2	SPINK7	5	147693711	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		147693711	33221549	11	55506											
LARP1	23367	broad.mit.edu	37	chr5	154190842	154190842	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctttttcgatactacagttAtggcctggaaaagaagttcc	11	13	8	9	1	0	1	0	0	0	1	2	3	1	2	3	2	2	2	3	2	6	6			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr5:154190842A>G	ENST00000336314.4	+	17	2672	c.2648A>G	c.(2647-2649)tAt>tGt	p.Y883C		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	960							protein binding|RNA binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			TACTACAGTTATGGCCTGGAA	0.448													G	154190842	A	G	154190842	3	3	729	1	0	0	0	0	1	0	0	0	8687	449	16	3	2714	3	LARP1	5	154190842	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	6497131	154190842	26724418	12	55507											
RREB1	6239	broad.mit.edu	37	chr6	7240815	7240815	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccagtcaaaagagagtgatgTtggatcccatgatagcacag	14	8	11	8	0	1	3	1	2	0	1	2	5	2	4	2	1	1	2	2	1	3	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:7240815T>A	ENST00000379938.2	+	11	4490	c.3953T>A	c.(3952-3954)gTt>gAt	p.V1318D	RREB1_ENST00000334984.6_Missense_Mutation_p.V1318D|RREB1_ENST00000379933.3_Intron|RREB1_ENST00000349384.6_Intron	NM_001003699.3|NM_001003700.1	NP_001003699.1|NP_001003700.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1272					multicellular organismal development|positive regulation of transcription, DNA-dependent|Ras protein signal transduction|transcription from RNA polymerase II promoter	cytoplasm|nuclear speck	DNA binding|zinc ion binding			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GAGAGTGATGTTGGATCCCAT	0.507													A	7240815	T	A	7240815	3	1	729	1	0	0	0	0	1	0	0	0	13770	1725	60	5	3983	5	RREB1	6	7240815	Missense_Mutation	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08		7240815	163874252	13	55508											
EPB41L2	2037	broad.mit.edu	37	chr6	131215489	131215489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttttcctaaaattacctgtaGaaagtatgatgctccacgca	13	13	6	9	1	0	2	0	1	0	1	2	2	2	2	3	0	2	4	3	0	6	6			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr6:131215489G>C	ENST00000337057.3	-	10	1663	c.1482C>G	c.(1480-1482)ttC>ttG	p.F494L	EPB41L2_ENST00000527659.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000368128.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000445890.2_Missense_Mutation_p.F494L|EPB41L2_ENST00000530481.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525193.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000525271.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000392427.3_Missense_Mutation_p.F494L|EPB41L2_ENST00000529208.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000527411.1_Missense_Mutation_p.F494L|EPB41L2_ENST00000528282.1_Missense_Mutation_p.F494L	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	494	FERM.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		ATTACCTGTAGAAAGTATGAT	0.493													C	131215489	G	C	131215489	3	2	729	1	0	0	0	0	1	0	0	0	5194	933	33	4	1575	4	EPB41L2	6	131215489	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	123974674	131215489	39899578	14	55509											
NUPL2	11097	broad.mit.edu	37	chr7	23236324	23236324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctgtccaacgtttaataaAtcaatggaggaacagggtaa	15	11	9	6	1	2	0	1	0	1	0	3	2	3	2	1	3	2	2	1	3	7	5			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:23236324A>G	ENST00000258742.5	+	5	807	c.548A>G	c.(547-549)aAt>aGt	p.N183S		NM_007342.2	NP_031368.1	O15504	NUPL2_HUMAN	nucleoporin like 2	183					carbohydrate metabolic process|glucose transport|mRNA transport|protein export from nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nuclear pore	nuclear export signal receptor activity|nucleic acid binding|zinc ion binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CGTTTAATAAATCAATGGAGG	0.323													G	23236324	A	G	23236324	3	3	729	1	0	0	0	0	1	0	0	0	10851	101	4	3	566	3	NUPL2	7	23236324	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		23236324	135902339	15	55510											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000257622.4_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000434423.2_Missense_Mutation_p.N359S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													G	72398976	A	G	72398976	3	3	729	1	0	0	0	0	1	0	0	0	12316	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	49162652	72398976	86739687	16	55511											
CACNA2D1	781	broad.mit.edu	37	chr7	81591323	81591323	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacagggaggccgtgaagtcAtcatcctccatctcaacttg	10	9	10	12	1	3	1	3	1	1	0	6	3	5	2	3	2	1	0	3	2	2	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:81591323A>T	ENST00000356860.3	-	36	3191	c.2853T>A	c.(2851-2853)gaT>gaA	p.D951E	CACNA2D1_ENST00000356253.5_Missense_Mutation_p.D963E|CACNA2D1_ENST00000535308.1_Missense_Mutation_p.D163E	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	963						voltage-gated calcium channel complex	metal ion binding			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)	CCGTGAAGTCATCATCCTCCA	0.483													T	81591323	A	T	81591323	3	4	729	1	0	0	0	0	1	0	0	0	2574	214	8	5	438	5	CACNA2D1	7	81591323	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	9192347	81591323	77547340	17	55512											
ARPC1A	10552	broad.mit.edu	37	chr7	98984335	98984335	+	Nonstop_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgccccaacaaccatgAggtgcatatctatgaaaaga	15	8	7	11	0	2	3	0	2	2	1	2	3	2	3	3	1	4	1	3	1	6	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:98984335A>T	ENST00000432884.2	+	13	1499	c.1038A>T	c.(1036-1038)tgA>tgT	p.*346C	ARPC1B_ENST00000451682.1_Missense_Mutation_p.E31V|ARPC1B_ENST00000474880.1_3'UTR|ARPC1B_ENST00000252725.5_Missense_Mutation_p.E31V			Q92747	ARC1A_HUMAN	actin related protein 2/3 complex, subunit 1A, 41kDa	0					actin cytoskeleton organization|regulation of actin filament polymerization	actin cytoskeleton|cytoplasm	actin binding			endometrium(3)|large_intestine(5)|liver(2)|lung(7)|ovary(1)|prostate(1)	19	all_cancers(62;4.46e-09)|all_epithelial(64;3.44e-10)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0258)		STAD - Stomach adenocarcinoma(171;0.215)			AACAACCATGAGGTGCATATC	0.567													T	98984335	A	T	98984335	4	4	729	1	0	0	0	0	0	0	0	0	974	304	11	5		5	ARPC1A	7	98984335	Nonstop_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	17393012	98984335	60154328	18	55513											
RAB19	401409	broad.mit.edu	37	chr7	140125837	140125837	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggccaaggagctgatcGcgcgcaacagcctgcaccta	10	6	11	14	3	1	1	1	1	0	0	2	2	1	2	3	2	4	3	3	2	3	1			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr7:140125837G>A	ENST00000275874.5	+	5	880	c.682G>A	c.(682-684)Gcg>Acg	p.A228T	RAB19_ENST00000356407.3_Missense_Mutation_p.A181T|RAB19_ENST00000537763.1_Missense_Mutation_p.A181T			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	181					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					GGAGCTGATCGCGCGCAACAG	0.572													A	140125837	G	A	140125837	3	1	729	1	0	0	0	0	1	0	0	0	12992	1087	38	1	551	1	RAB19	7	140125837	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	41141502	140125837	19012826	19	55514											
HR	55806	broad.mit.edu	37	chr8	21986639	21986639	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgttctctggggccgtcttCtcccaggttggggtgccctt	1	13	13	14	2	3	0	0	0	3	0	5	0	3	0	4	5	1	2	4	5	0	4			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:21986639C>A	ENST00000381418.4	-	2	1525	c.45G>T	c.(43-45)gaG>gaT	p.E15D	HR_ENST00000312841.8_Missense_Mutation_p.E15D	NM_005144.4	NP_005135.2	O43593	HAIR_HUMAN	hair growth associated	15							DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	27		Breast(100;0.000162)|Acute lymphoblastic leukemia(644;0.0775)|Prostate(55;0.116)		KIRC - Kidney renal clear cell carcinoma(542;1.19e-05)|BRCA - Breast invasive adenocarcinoma(99;3.56e-05)|Colorectal(74;0.00191)|COAD - Colon adenocarcinoma(73;0.0615)|READ - Rectum adenocarcinoma(644;0.1)		GGGCCGTCTTCTCCCAGGTTG	0.657													A	21986639	C	A	21986639	3	1	729	1	0	0	0	0	1	0	0	0	7402	912	32	4	3596	4	HR	8	21986639	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		21986639	124377383	20	55515											
MAL2	114569	broad.mit.edu	37	chr8	120233832	120233832	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttttctctttcagctgttCgggggtcttgtctggatttt	2	21	10	8	1	4	0	1	0	3	0	6	1	4	1	0	3	1	2	0	3	0	7			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:120233832C>T	ENST00000276681.6	+	3	240	c.138C>T	c.(136-138)ttC>ttT	p.F46F	RP11-4K16.2_ENST00000522828.1_lincRNA|MAL2_ENST00000521748.1_3'UTR	NM_052886.2	NP_443118.1	Q969L2	MAL2_HUMAN	mal, T-cell differentiation protein 2 (gene/pseudogene)	46	MARVEL.					apical plasma membrane|endomembrane system|integral to membrane|perinuclear region of cytoplasm	protein binding					all_cancers(13;1.91e-26)|Lung NSC(37;8.61e-08)|Ovarian(258;0.018)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.000967)			TTCAGCTGTTCGGGGGTCTTG	0.428													T	120233832	C	T	120233832	2	4	729	1	0	0	0	0	0	0	0	1	9275	883	31	1		1	MAL2	8	120233832	Silent	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	98247193	120233832	26130190	21	55516											
LRRC14	9684	broad.mit.edu	37	chr8	145746678	145746678	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcaccccttccctgtggActgctatgagggcttgccct	4	11	12	14	0	0	1	0	1	0	0	1	2	1	2	4	3	3	3	4	3	1	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr8:145746678A>G	ENST00000292524.1	+	4	1444	c.1298A>G	c.(1297-1299)gAc>gGc	p.D433G	LRRC14_ENST00000529022.1_Missense_Mutation_p.D433G	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	433										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TTCCCTGTGGACTGCTATGAG	0.627													G	145746678	A	G	145746678	3	3	729	1	0	0	0	0	1	0	0	0	9038	275	10	3	1308	3	LRRC14	8	145746678	Missense_Mutation	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08	25512846	145746678	617344	22	55517											
ADAMTSL1	92949	broad.mit.edu	37	chr9	18657637	18657637	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcctgttgactcctgcagAttcgtaactcgggctccgct	5	14	9	13	3	0	2	0	1	0	1	5	2	3	2	3	1	2	5	3	1	1	4			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:18657637A>G	ENST00000380548.4	+	8	1174	c.835A>G	c.(835-837)Att>Gtt	p.I279V	ADAMTSL1_ENST00000276935.6_Splice_Site_p.I279V|ADAMTSL1_ENST00000380566.4_Splice_Site_p.I279V|ADAMTSL1_ENST00000327883.7_Splice_Site_p.I279V	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	279						proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		ACTCCTGCAGATTCGTAACTC	0.483													G	18657637	A	G	18657637	5	3	729	1	0	0	0	0	0	0	1	0	274	347	12	3	865	3	ADAMTSL1	9	18657637	Splice_Site	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		18657637	122555794	23	55518											
ABCA2	20	broad.mit.edu	37	chr9	139910252	139910252	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgatggccacggacagcttgCgcttcatgccacccgacaat	9	7	10	15	4	1	0	1	0	0	0	1	3	1	1	3	2	3	2	3	2	1	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr9:139910252C>A	ENST00000265662.5	-	23	3536	c.3389G>T	c.(3388-3390)cGc>cTc	p.R1130L	ABCA2_ENST00000341511.6_Missense_Mutation_p.R1130L|ABCA2_ENST00000371605.3_Missense_Mutation_p.R1129L			Q9BZC7	ABCA2_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 2	1129	ABC transporter 1.				cholesterol homeostasis|lipid metabolic process|regulation of intracellular cholesterol transport|regulation of transcription from RNA polymerase II promoter|response to drug|response to steroid hormone stimulus	ATP-binding cassette (ABC) transporter complex|cytoplasmic membrane-bounded vesicle|endosome|integral to membrane|microtubule organizing center	ATP binding|ATPase activity, coupled to transmembrane movement of substances			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|liver(1)|lung(25)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	41	all_cancers(76;0.16)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.123)	OV - Ovarian serous cystadenocarcinoma(145;2.94e-05)|Epithelial(140;0.00048)		GGACAGCTTGCGCTTCATGCC	0.672													A	139910252	C	A	139910252	3	1	729	1	0	0	0	0	1	0	0	0	32	768	27	4	4029	4	ABCA2	9	139910252	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	121252615	139910252	1303179	24	55519											
STOX1	219736	broad.mit.edu	37	chr10	70645061	70645061	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagggtttgtctcaccgAggaagcacaatatccaaagg	12	9	10	10	1	1	0	1	0	1	0	4	2	3	1	3	3	1	2	3	3	4	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr10:70645061A>G	ENST00000298596.6	+	3	1592	c.1509A>G	c.(1507-1509)cgA>cgG	p.R503R	STOX1_ENST00000399162.2_Intron|STOX1_ENST00000399165.4_Intron|STOX1_ENST00000421961.2_Silent_p.R393R|STOX1_ENST00000399169.4_Silent_p.R503R	NM_152709.4	NP_689922.3	Q6ZVD7	STOX1_HUMAN	storkhead box 1	503						cytoplasm|nucleolus	DNA binding			breast(5)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|prostate(1)|skin(3)	28						TGTCTCACCGAGGAAGCACAA	0.448													G	70645061	A	G	70645061	2	3	729	1	0	0	0	0	0	0	0	1	15415	291	11	3		3	STOX1	10	70645061	Silent	SNP	A	TCGA-S9-A7QX-01A-11D-A34A-08		70645061	64889686	25	55520											
KDM5A	5927	broad.mit.edu	37	chr12	442740	442740	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgggattcaaataactcgggGgccagctctctcatcacctc	9	10	9	13	1	4	0	3	0	1	0	7	1	4	1	2	3	2	1	2	3	2	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr12:442740G>C	ENST00000399788.2	-	12	1928	c.1566C>G	c.(1564-1566)gcC>gcG	p.A522A	KDM5A_ENST00000382815.4_Silent_p.A522A	NM_001042603.1	NP_001036068.1	P29375	KDM5A_HUMAN	lysine (K)-specific demethylase 5A	522	JmjC.				chromatin modification|multicellular organismal development|positive regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	cytoplasm|nucleolus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(29)|ovary(1)|prostate(5)|skin(6)|stomach(1)|urinary_tract(2)	77						ATAACTCGGGGGCCAGCTCTC	0.502			T	NUP98	AML								C	442740	G	C	442740	2	2	729	1	0	0	0	0	0	0	0	1	8191	1219	43	4		4	KDM5A	12	442740	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		442740	133409155	26	55521											
TP53	7157	broad.mit.edu	37	chr17	7577610	7577610	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtacagtcagagccaaccTaggagataacacaggcccaa	15	5	10	11	0	1	2	1	0	0	2	1	3	1	2	3	3	4	1	3	3	5	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:7577610T>C	ENST00000420246.2	-	7	805		c.e7-2		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000574684.1_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53						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.?(43)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(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)		AGAGCCAACCTAGGAGATAAC	0.522		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)			C	7577610	T	C	7577610	5	2	729	1	0	0	0	0	0	0	1	0	16482	1536	53	3	619	3	TP53	17	7577610	Splice_Site	SNP	T	TCGA-S9-A7QX-01A-11D-A34A-08		7577610	73617600	27	55522											
MYH13	8735	broad.mit.edu	37	chr17	10204939	10204939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgttgacctgggactcagCgatgtccgccctctccgcgg	4	10	12	15	4	2	1	1	1	1	0	4	3	3	2	4	2	1	1	4	2	0	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:10204939C>T	ENST00000418404.3	-	39	5912	c.5749G>A	c.(5749-5751)Gct>Act	p.A1917T	RP11-401O9.4_ENST00000609088.1_RNA|MYH13_ENST00000252172.4_Missense_Mutation_p.A1917T			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1917					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGGGACTCAGCGATGTCCGCC	0.602													T	10204939	C	T	10204939	3	4	729	1	0	0	0	0	1	0	0	0	10108	768	27	1	75	1	MYH13	17	10204939	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	2627329	10204939	70990271	28	55523											
KRT31	3881	broad.mit.edu	37	chr17	39551856	39551856	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggcggtctccaagctggCagcgcagggtattgacctcc	7	8	14	12	2	1	2	0	2	1	0	3	2	2	2	3	4	2	4	3	4	2	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:39551856C>A	ENST00000251645.2	-	4	660	c.608G>T	c.(607-609)tGc>tTc	p.C203F		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	203	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				TCCAAGCTGGCAGCGCAGGGT	0.517													A	39551856	C	A	39551856	3	1	729	1	0	0	0	0	1	0	0	0	8525	710	25	4	658	4	KRT31	17	39551856	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	29346917	39551856	41643354	29	55524											
STAT5B	6777	broad.mit.edu	37	chr17	40354366	40354366	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgccacctacttctgtggGtacatgttatagtgagcctg	9	13	10	9	0	1	1	0	1	1	0	1	1	1	1	3	1	4	2	3	1	5	5			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr17:40354366G>A	ENST00000293328.3	-	18	2397	c.2229C>T	c.(2227-2229)taC>taT	p.Y743Y		NM_012448.3	NP_036580.2	P51692	STA5B_HUMAN	signal transducer and activator of transcription 5B	743					2-oxoglutarate metabolic process|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|fatty acid metabolic process|isoleucine metabolic process|JAK-STAT cascade involved in growth hormone signaling pathway|oxaloacetate metabolic process|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cytosol|nucleoplasm	calcium ion binding|glucocorticoid receptor binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_cancers(22;4.15e-07)|all_epithelial(22;2.83e-05)|Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.135)	Dasatinib(DB01254)	ACTTCTGTGGGTACATGTTAT	0.632													A	40354366	G	A	40354366	2	1	729	1	0	0	0	0	0	0	0	1	15365	1256	44	2		2	STAT5B	17	40354366	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	802510	40354366	40840844	30	55525											
MUC16	94025	broad.mit.edu	37	chr19	9047644	9047644	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttggaaaagttgcactgatGtctctcccagagctagtgac	10	11	11	9	0	1	3	0	2	1	1	3	4	2	4	1	1	2	4	1	1	3	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:9047644G>T	ENST00000397910.4	-	5	34190	c.33987C>A	c.(33985-33987)gaC>gaA	p.D11329E		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	11331	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						TTGCACTGATGTCTCTCCCAG	0.507													T	9047644	G	T	9047644	3	4	729	1	0	0	0	0	1	0	0	0	10049	1368	48	4	9856	4	MUC16	19	9047644	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08		9047644	50081339	31	55526											
PRX	57716	broad.mit.edu	37	chr19	40901999	40901999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacttgcatttccggcagccGaatctctgacactttcggca	8	11	8	14	3	1	1	0	1	1	0	4	2	2	1	2	2	2	3	2	2	1	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:40901999G>A	ENST00000324001.7	-	7	2530	c.2260C>T	c.(2260-2262)Cgg>Tgg	p.R754W	PRX_ENST00000291825.7_3'UTR	NM_181882.2	NP_870998.2	Q9BXM0	PRAX_HUMAN	periaxin	754	55 X 5 AA approximate tandem repeats of [LVMAG]-[PSREQC]-[EDKL]-[LIVMAP]- [AQKHRPE]; that may have a tripeptide spacer of [LV]-P-[KER].				axon ensheathment	cytoplasm|nucleus|plasma membrane	protein binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|ovary(2)|prostate(3)|skin(1)|urinary_tract(9)	47			Lung(22;6.24e-05)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCGGCAGCCGAATCTCTGAC	0.597													A	40901999	G	A	40901999	3	1	729	1	0	0	0	0	1	0	0	0	12727	1057	37	1	2129	1	PRX	19	40901999	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	31854355	40901999	18226984	32	55527											
TSKS	60385	broad.mit.edu	37	chr19	50243411	50243411	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagggcctctgccctgacGtgtttggctaaggcctggcg	4	10	14	13	2	2	1	1	1	1	0	2	1	2	1	3	4	1	2	3	4	1	2			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:50243411G>A	ENST00000246801.3	-	10	1609	c.1527C>T	c.(1525-1527)caC>caT	p.H509H	TSKS_ENST00000358830.3_Silent_p.H309H	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	509							protein binding			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		CTGCCCTGACGTGTTTGGCTA	0.647													A	50243411	G	A	50243411	2	1	729	1	0	0	0	0	0	0	0	1	16727	1136	40	1		1	TSKS	19	50243411	Silent	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	9341412	50243411	8885572	33	55528											
BRSK1	84446	broad.mit.edu	37	chr19	55800958	55800958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttccgccagattgtgtctgCgctggacttctgccacagct	5	12	10	14	2	2	1	0	0	2	1	3	2	3	2	3	1	3	2	3	1	0	3			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chr19:55800958C>T	ENST00000309383.1	+	4	705	c.428C>T	c.(427-429)gCg>gTg	p.A143V	BRSK1_ENST00000590333.1_Missense_Mutation_p.A159V|BRSK1_ENST00000585418.1_Missense_Mutation_p.A143V	NM_032430.1	NP_115806.1	Q8TDC3	BRSK1_HUMAN	BR serine/threonine kinase 1	143	Protein kinase.				establishment of cell polarity|G2/M transition DNA damage checkpoint|neuron differentiation|response to UV	cell junction|cytoplasm|nucleus	magnesium ion binding|protein serine/threonine kinase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(15)|ovary(2)|prostate(2)|skin(6)|stomach(1)	48		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0474)		ATTGTGTCTGCGCTGGACTTC	0.622													T	55800958	C	T	55800958	3	4	729	1	0	0	0	0	1	0	0	0	1532	768	27	1	442	1	BRSK1	19	55800958	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08	5557547	55800958	3328025	34	55529											
FAM120C	54954	broad.mit.edu	37	chrX	54209078	54209078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctcggcctggcaccgaCggccccactcggccagccgg	4	3	14	20	6	0	0	0	0	0	0	2	1	0	0	7	5	1	2	7	5	0	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:54209078C>T	ENST00000375180.2	-	1	610	c.554G>A	c.(553-555)cGt>cAt	p.R185H	FAM120C_ENST00000477084.1_Missense_Mutation_p.R185H|FAM120C_ENST00000328235.4_Missense_Mutation_p.R185H|FAM120C_ENST00000497680.1_5'UTR	NM_017848.4	NP_060318.3	Q9NX05	F120C_HUMAN	family with sequence similarity 120C	185										breast(3)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28						CTGGCACCGACGGCCCCACTC	0.721													T	54209078	C	T	54209078	3	4	729	1	0	0	0	0	1	0	0	0	5463	536	19	1	2822	1	FAM120C	23	54209078	Missense_Mutation	SNP	C	TCGA-S9-A7QX-01A-11D-A34A-08		54209078	101061482	35	55530											
ATRX	546	broad.mit.edu	37	chrX	76939883	76939883	+	Frame_Shift_Del	DEL	G	G	-																															cttattttgctgcaacaactGttctaaattctcaaatacgc																										TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:76939883delG	ENST00000373344.5	-	9	1079	c.865delC	c.(865-867)cagfs	p.Q289fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.Q251fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	289	ADD.				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)	TGCAACAACTGTTCTAAATTC	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939883	G	-	76939883	7	5	729	1	0	1	0	1	0	0	0	0	1213	1386	48	0	6721	0	ATRX	23	76939883	Frame_Shift_Del	DEL	G	TCGA-S9-A7QX-01A-11D-A34A-08	22730805	76939883	78330677	36	55531											
HCFC1	3054	broad.mit.edu	37	chrX	153222180	153222180	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgggcacagtgcggaggatgGtgcctggctgtcccggggcc	4	7	19	11	2	0	0	0	0	0	0	1	2	1	2	3	7	2	2	3	7	0	0			TCGA-S9-A7QX-01A-11D-A34A-08	TCGA-S9-A7QX-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	383e9041-2f85-417c-8824-0dafe5187fcc	3c3ec994-f86f-4708-bb2e-5cbc63b66c09	g.chrX:153222180G>A	ENST00000310441.7	-	15	3497	c.2531C>T	c.(2530-2532)aCc>aTc	p.T844I	HCFC1_ENST00000354233.3_Missense_Mutation_p.T775I|HCFC1_ENST00000369984.4_Missense_Mutation_p.T844I	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	844	Interaction with GABP2.|Interaction with ZBTB17.				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCGGAGGATGGTGCCTGGCTG	0.647													A	153222180	G	A	153222180	3	1	729	1	0	0	0	0	1	0	0	0	7046	1261	44	2	3624	2	HCFC1	23	153222180	Missense_Mutation	SNP	G	TCGA-S9-A7QX-01A-11D-A34A-08	76282297	153222180	2048380	37	55532											
AKR7A2	8574	broad.mit.edu	37	chr1	19630776	19630776	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccaggcttgattaaaggcAtccacgacagccggctccag	10	7	11	13	2	0	1	0	1	0	0	2	2	2	1	4	3	2	3	4	3	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:19630776A>G	ENST00000235835.3	-	7	1044	c.1023T>C	c.(1021-1023)gaT>gaC	p.D341D		NM_003689.3	NP_003680.2	O43488	ARK72_HUMAN	aldo-keto reductase family 7, member A2 (aflatoxin aldehyde reductase)	341					carbohydrate metabolic process|cellular aldehyde metabolic process	Golgi apparatus	alditol:NADP+ 1-oxidoreductase activity|electron carrier activity			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000321)|Lung NSC(340;0.000398)|Breast(348;0.00049)|Ovarian(437;0.00764)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00461)|BRCA - Breast invasive adenocarcinoma(304;1.83e-05)|Kidney(64;0.000167)|GBM - Glioblastoma multiforme(114;0.00115)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)		GATTAAAGGCATCCACGACAG	0.597													G	19630776	A	G	19630776	2	3	730	1	0	0	0	0	0	0	0	1	475	214	8	3		3	AKR7A2	1	19630776	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		19630776	229619845	1	55533											
HSPG2	3339	broad.mit.edu	37	chr1	22150181	22150181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgctgaccagctcctcacCgtcgacttggatggaacctc	7	8	10	16	3	1	1	1	1	0	0	4	4	2	3	5	2	2	2	5	2	1	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:22150181C>T	ENST00000374695.3	-	96	13010	c.12931G>A	c.(12931-12933)Ggt>Agt	p.G4311S	LDLRAD2_ENST00000543870.1_Intron|HSPG2_ENST00000486901.1_5'UTR|LDLRAD2_ENST00000344642.2_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	4311	Laminin G-like 3.				angiogenesis|cell adhesion|lipid metabolic process|lipoprotein metabolic process	basement membrane|extracellular space|plasma membrane	protein C-terminus binding			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Becaplermin(DB00102)|Palifermin(DB00039)	AGCTCCTCACCGTCGACTTGG	0.647													T	22150181	C	T	22150181	3	4	730	1	0	0	0	0	1	0	0	0	7488	652	23	1	252	1	HSPG2	1	22150181	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	2519405	22150181	227100440	2	55534											
IQCC	55721	broad.mit.edu	37	chr1	32671760	32671760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgttctccataccaggcctgCgtccggggcttcttggtccg	3	11	12	15	4	2	0	0	0	2	0	5	0	4	0	5	4	2	2	5	4	1	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:32671760C>T	ENST00000537469.1	+	2	335	c.288C>T	c.(286-288)tgC>tgT	p.C96C	IQCC_ENST00000291358.6_Silent_p.C16C|RP4-622L5.7_ENST00000421616.1_RNA|RP4-622L5.7_ENST00000373604.4_RNA	NM_001160042.1	NP_001153514.1	Q4KMZ1	IQCC_HUMAN	IQ motif containing C	16										endometrium(4)|large_intestine(1)|lung(3)|ovary(4)|skin(2)|urinary_tract(1)	15		Myeloproliferative disorder(586;0.0393)|all_neural(195;0.186)				ACCAGGCCTGCGTCCGGGGCT	0.602													T	32671760	C	T	32671760	2	4	730	1	0	0	0	0	0	0	0	1	7862	776	27	1		1	IQCC	1	32671760	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	10521579	32671760	216578861	3	55535											
PTPRF	5792	broad.mit.edu	37	chr1	44035429	44035429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccctgccacgagcaacggccGcatcaagcagctgcgttcag	9	5	11	16	4	2	0	2	0	0	0	2	1	2	0	3	1	6	5	3	1	2	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:44035429G>A	ENST00000359947.4	+	6	888	c.548G>A	c.(547-549)cGc>cAc	p.R183H	PTPRF_ENST00000372414.3_Missense_Mutation_p.R183H|PTPRF_ENST00000372413.3_Missense_Mutation_p.R183H|PTPRF_ENST00000438120.1_Missense_Mutation_p.R183H	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	183	Ig-like C2-type 2.				transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				AGCAACGGCCGCATCAAGCAG	0.587													A	44035429	G	A	44035429	3	1	730	1	0	0	0	0	1	0	0	0	12889	1087	38	1	562	1	PTPRF	1	44035429	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	11363669	44035429	205215192	4	55536											
ZCCHC11	23318	broad.mit.edu	37	chr1	52940852	52940852	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagatgaagagtcctgtccGtggtcagcaaaatctagttc	12	10	11	8	1	2	3	1	1	1	2	5	4	4	3	2	1	1	2	2	1	4	2	rs140552770	byFrequency	TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:52940852G>A	ENST00000371544.3	-	13	2641	c.2379C>T	c.(2377-2379)caC>caT	p.H793H	ZCCHC11_ENST00000257177.4_Silent_p.H793H|ZCCHC11_ENST00000371541.1_5'UTR	NM_001009881.2|NM_015269.2	NP_001009881.1|NP_056084.1	Q5TAX3	TUT4_HUMAN	zinc finger, CCHC domain containing 11	793					miRNA catabolic process|pre-miRNA processing|RNA 3'-end processing|stem cell maintenance	cytoplasm|nucleolus	nucleic acid binding|protein binding|RNA uridylyltransferase activity|zinc ion binding			NS(2)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(17)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	58						AGTCCTGTCCGTGGTCAGCAA	0.368													A	52940852	G	A	52940852	2	1	730	1	0	0	0	0	0	0	0	1	17681	1136	40	1		1	ZCCHC11	1	52940852	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	8905423	52940852	196309769	5	55537											
LPAR3	23566	broad.mit.edu	37	chr1	85331538	85331538	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttttgaaactgggcctgtgTtaaacatcaggaatacatag	13	13	9	6	0	1	1	1	1	0	0	1	2	1	2	1	2	3	1	1	2	6	5			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:85331538T>C	ENST00000440886.1	-	1	304	c.266A>G	c.(265-267)aAc>aGc	p.N89S	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.N89S			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	89					G-protein signaling, coupled to cyclic nucleotide second messenger|synaptic transmission	integral to plasma membrane|intracellular membrane-bounded organelle				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TGGGCCTGTGTTAAACATCAG	0.448													C	85331538	T	C	85331538	3	2	730	1	0	0	0	0	1	0	0	0	8976	1725	60	3	803	3	LPAR3	1	85331538	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	32390686	85331538	163919083	6	55538											
SPAG17	200162	broad.mit.edu	37	chr1	118657953	118657953	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcttttcattttcccgtcGctgttggtccttaaatttaa	6	20	5	10	2	2	0	1	0	1	0	5	0	4	0	2	1	0	2	2	1	3	9			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:118657953G>A	ENST00000336338.5	-	4	492	c.427C>T	c.(427-429)Cga>Tga	p.R143*		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	143	Lys-rich.		R -> Q (in dbSNP:rs12133381).			cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTTCCCGTCGCTGTTGGTCC	0.418													A	118657953	G	A	118657953	4	1	730	1	0	0	0	0	0	1	0	0	15075	1095	38	1	6424	1	SPAG17	1	118657953	Nonsense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	33326415	118657953	130592668	7	55539											
FLG	2312	broad.mit.edu	37	chr1	152282999	152282999	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgggtgcagtctgtccgtGtgtggactcagactgttcat	5	13	14	9	1	3	1	2	0	1	1	4	2	4	2	1	2	1	3	1	2	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:152282999G>A	ENST00000368799.1	-	3	4398	c.4363C>T	c.(4363-4365)Cac>Tac	p.H1455Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1455	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCTGTCCGTGTGTGGACTCA	0.572									Ichthyosis				A	152282999	G	A	152282999	3	1	730	1	0	0	0	0	1	0	0	0	5971	1377	48	2	7826	2	FLG	1	152282999	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	33625046	152282999	96967622	8	55540											
METTL13	51603	broad.mit.edu	37	chr1	171765758	171765758	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagatcctgttctgtcagctGcaccctgagcaaaaacttgc	10	10	9	12	0	2	2	1	1	1	1	3	3	3	2	2	0	5	4	2	0	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr1:171765758G>A	ENST00000361735.3	+	8	2228	c.1962G>A	c.(1960-1962)ctG>ctA	p.L654L	METTL13_ENST00000367737.5_Silent_p.L498L|METTL13_ENST00000458517.1_Silent_p.L653L|METTL13_ENST00000466643.1_3'UTR|METTL13_ENST00000362019.3_Silent_p.L568L	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN	methyltransferase like 13	654							methyltransferase activity|protein binding			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TCTGTCAGCTGCACCCTGAGC	0.557													A	171765758	G	A	171765758	2	1	730	1	0	0	0	0	0	0	0	1	9572	1306	46	2		2	METTL13	1	171765758	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	19482759	171765758	77484863	9	55541											
CCDC121	79635	broad.mit.edu	37	chr2	27850426	27850426	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tttaagcactgaaatttgttCtgcatatctggaggctgatt	10	16	9	6	0	2	2	0	2	2	0	2	3	2	3	0	2	2	4	0	2	3	6			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:27850426C>G	ENST00000324364.3	-	2	421	c.241G>C	c.(241-243)Gaa>Caa	p.E81Q	RP11-158I13.2_ENST00000505973.1_RNA|CCDC121_ENST00000394775.3_Missense_Mutation_p.E243Q|ZNF512_ENST00000556601.1_Intron	NM_024584.4	NP_078860.2	Q6ZUS5	CC121_HUMAN	coiled-coil domain containing 121	81										breast(1)|endometrium(3)|large_intestine(2)|lung(6)|prostate(2)	14	Acute lymphoblastic leukemia(172;0.155)					GAAATTTGTTCTGCATATCTG	0.398													G	27850426	C	G	27850426	3	3	730	1	0	0	0	0	1	0	0	0	2783	922	32	4	599	4	CCDC121	2	27850426	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		27850426	215348947	10	55542											
UGGT1	56886	broad.mit.edu	37	chr2	128941352	128941352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggaccctaacagcctttcaAatcttgatcaagtaagtgtc	13	11	7	10	0	3	1	2	1	1	0	4	2	3	2	2	1	2	1	2	1	4	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:128941352A>G	ENST00000375990.3	+	38	4679	c.4276A>G	c.(4276-4278)Aat>Gat	p.N1426D	UGGT1_ENST00000259253.6_Missense_Mutation_p.N1450D			Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	1450	Glucosyltransferase (By similarity).				'de novo' posttranslational protein folding|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity|unfolded protein binding			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						CAGCCTTTCAAATCTTGATCA	0.413													G	128941352	A	G	128941352	3	3	730	1	0	0	0	0	1	0	0	0	17043	14	1	3	4498	3	UGGT1	2	128941352	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	101090926	128941352	114258021	11	55543											
ECEL1	9427	broad.mit.edu	37	chr2	233349567	233349567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgttgtacatggagctgaCatctcgccgtaggtcgtcat	7	13	11	10	3	2	1	1	1	1	0	4	2	2	2	1	2	2	4	1	2	2	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr2:233349567C>T	ENST00000304546.1	-	5	1213	c.1003G>A	c.(1003-1005)Gtc>Atc	p.V335I	ECEL1_ENST00000409941.1_Missense_Mutation_p.V335I	NM_004826.2	NP_004817.2	O95672	ECEL1_HUMAN	endothelin converting enzyme-like 1	335					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)		ATGGAGCTGACATCTCGCCGT	0.612													T	233349567	C	T	233349567	3	4	730	1	0	0	0	0	1	0	0	0	4930	478	17	2	1380	2	ECEL1	2	233349567	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	104408215	233349567	9849806	12	55544											
QRICH1	54870	broad.mit.edu	37	chr3	49083858	49083858	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaagatctgtttcctacCttttgaatacacaggaaaat	13	14	7	7	0	1	3	0	2	1	1	2	4	2	4	2	1	2	1	2	1	6	5			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:49083858C>T	ENST00000395443.2	-	5	2143	c.1671G>A	c.(1669-1671)aaG>aaA	p.K557K	QRICH1_ENST00000424300.1_Splice_Site_p.K557K|QRICH1_ENST00000357496.2_Splice_Site_p.K557K|QRICH1_ENST00000479449.1_5'UTR	NM_198880.1	NP_942581.1	Q2TAL8	QRIC1_HUMAN	glutamine-rich 1	557										breast(2)|endometrium(5)|large_intestine(8)|lung(8)|ovary(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(193;8.88e-05)|Kidney(197;0.00239)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		TGTTTCCTACCTTTTGAATAC	0.373													T	49083858	C	T	49083858	5	4	730	1	0	0	0	0	0	0	1	0	12967	695	24	2	683	2	QRICH1	3	49083858	Splice_Site	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		49083858	148938572	13	55545											
SENP7	57337	broad.mit.edu	37	chr3	101090887	101090887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagatattaaaagagaaatgCcatcatcctttcttcgtttt	13	15	5	8	1	2	2	1	0	1	2	4	3	3	2	2	0	1	1	2	0	4	6			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr3:101090887C>T	ENST00000394095.2	-	7	814	c.761G>A	c.(760-762)gGc>gAc	p.G254D	SENP7_ENST00000394094.2_Missense_Mutation_p.G189D|SENP7_ENST00000394091.1_Missense_Mutation_p.G90D|SENP7_ENST00000314261.7_Missense_Mutation_p.G188D|SENP7_ENST00000348610.3_Missense_Mutation_p.G221D|SENP7_ENST00000358203.3_Missense_Mutation_p.G90D	NM_001282802.1|NM_020654.3	NP_001269731.1|NP_065705.3	Q9BQF6	SENP7_HUMAN	SUMO1/sentrin specific peptidase 7	254					proteolysis	nucleus	cysteine-type peptidase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(16)|lung(15)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						AAGAGAAATGCCATCATCCTT	0.343													T	101090887	C	T	101090887	3	4	730	1	0	0	0	0	1	0	0	0	14144	739	26	2	2463	2	SENP7	3	101090887	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	52007029	101090887	96931543	14	55546											
ATP10D	57205	broad.mit.edu	37	chr4	47560219	47560219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtggtccgacaccctctttCcaatcaagttgtggtgtata	8	14	9	10	1	2	0	1	0	1	0	4	1	4	0	3	2	0	2	3	2	4	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:47560219C>T	ENST00000273859.3	+	12	2632	c.2363C>T	c.(2362-2364)tCc>tTc	p.S788F	AC092597.3_ENST00000508081.1_RNA	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	788					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						CACCCTCTTTCCAATCAAGTT	0.433													T	47560219	C	T	47560219	3	4	730	1	0	0	0	0	1	0	0	0	1123	855	30	2	2405	2	ATP10D	4	47560219	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		47560219	143594057	15	55547											
LRP2BP	55805	broad.mit.edu	37	chr4	186295495	186295495	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcagcttcctcatttgatcGtttaacaccttttccttcat	7	19	3	12	1	3	1	3	1	0	0	6	1	5	1	3	0	2	2	3	0	1	8			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr4:186295495G>A	ENST00000362004.3	-	4	1268	c.457C>T	c.(457-459)Cga>Tga	p.R153*	LRP2BP_ENST00000510776.1_Nonsense_Mutation_p.R125*|LRP2BP_ENST00000505916.1_Nonsense_Mutation_p.R151*|RP11-714G18.1_ENST00000514884.1_RNA|LRP2BP_ENST00000328559.7_Nonsense_Mutation_p.R151*			Q9P2M1	LR2BP_HUMAN	LRP2 binding protein	151						cytoplasm	protein binding			breast(1)|endometrium(2)|large_intestine(6)|lung(3)|prostate(1)|skin(2)	15		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;0.00109)|Colorectal(36;0.0215)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;2.14e-25)|Epithelial(43;1.55e-22)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-11)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.000132)|STAD - Stomach adenocarcinoma(60;0.000766)|Colorectal(24;0.00116)|LUSC - Lung squamous cell carcinoma(40;0.00904)|COAD - Colon adenocarcinoma(29;0.0101)|READ - Rectum adenocarcinoma(43;0.161)		TCATTTGATCGTTTAACACCT	0.388													A	186295495	G	A	186295495	4	1	730	1	0	0	0	0	0	1	0	0	9027	1153	40	1	612	1	LRP2BP	4	186295495	Nonsense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	138735276	186295495	4858781	16	55548											
ADCY2	108	broad.mit.edu	37	chr5	7520964	7520964	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcccacaccatcgtgcttagCgtctgcctgtctgcaacacc	7	10	7	17	2	2	0	0	0	2	0	4	0	3	0	4	0	5	2	4	0	2	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:7520964C>T	ENST00000338316.4	+	3	611	c.522C>T	c.(520-522)agC>agT	p.S174S		NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	174					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCGTGCTTAGCGTCTGCCTGT	0.582													T	7520964	C	T	7520964	2	4	730	1	0	0	0	0	0	0	0	1	294	767	27	1		1	ADCY2	5	7520964	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		7520964	173394296	17	55549											
ZFR	51663	broad.mit.edu	37	chr5	32407029	32407029	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgttgcagcagcagcagcAgctgctgctgctgcctgctt	5	10	13	13	0	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2	rs139769264		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:32407029A>T	ENST00000265069.8	-	6	984	c.882T>A	c.(880-882)gcT>gcA	p.A294A		NM_016107.3	NP_057191.2	Q96KR1	ZFR_HUMAN	zinc finger RNA binding protein	294	Ala-rich.				multicellular organismal development	chromosome|cytoplasm|nucleus	DNA binding|RNA binding|zinc ion binding	p.A294A(1)		breast(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|upper_aerodigestive_tract(2)	32				STAD - Stomach adenocarcinoma(35;0.19)		cagcagcagcagctgctgctg	0.483													T	32407029	A	T	32407029	2	4	730	1	0	0	0	0	0	0	0	1	17760	175	7	5		5	ZFR	5	32407029	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	24886065	32407029	148508231	18	55550											
CCNB1	891	broad.mit.edu	37	chr5	68470917	68470917	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctacctttgcacttccttCggagagcatctaagattgga	9	13	8	11	1	2	2	0	0	2	2	4	4	3	3	2	2	3	2	2	2	2	6			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:68470917C>T	ENST00000256442.5	+	6	1172	c.919C>T	c.(919-921)Cgg>Tgg	p.R307W		NM_031966.3	NP_114172.1	P14635	CCNB1_HUMAN	cyclin B1	307					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|G1/S transition of mitotic cell cycle|G2/M transition of mitotic cell cycle|mitotic cell cycle spindle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|mitotic spindle stabilization|positive regulation of attachment of spindle microtubules to kinetochore|positive regulation of mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of cyclin-dependent protein kinase activity	condensed nuclear chromosome outer kinetochore|cytosol|microtubule organizing center|nucleoplasm|spindle pole				large_intestine(2)|lung(5)|skin(1)	8		Lung NSC(167;5.51e-05)|Prostate(74;0.00634)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.24e-56)|Epithelial(20;1.12e-52)|all cancers(19;2.63e-48)|Lung(70;0.0177)		GCACTTCCTTCGGAGAGCATC	0.448													T	68470917	C	T	68470917	3	4	730	1	0	0	0	0	1	0	0	0	2941	875	31	1	941	1	CCNB1	5	68470917	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	36063888	68470917	112444343	19	55551											
PPIP5K2	23262	broad.mit.edu	37	chr5	102519070	102519070	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccctgtctcccccaaatcaTtggctttcacatccagtatt	8	13	4	16	0	3	0	2	0	1	0	5	0	4	0	5	1	0	2	5	1	2	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:102519070T>C	ENST00000321521.9	+	25	3631	c.3058T>C	c.(3058-3060)Ttg>Ctg	p.L1020L	PPIP5K2_ENST00000358359.3_Silent_p.L1020L|PPIP5K2_ENST00000414217.1_Silent_p.L1020L|PPIP5K2_ENST00000513500.1_3'UTR			O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	1020					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						CCCCAAATCATTGGCTTTCAC	0.453													C	102519070	T	C	102519070	2	2	730	1	0	0	0	0	0	0	0	1	12415	1490	52	3		3	PPIP5K2	5	102519070	Silent	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	34048153	102519070	78396190	20	55552											
ADAMTS19	171019	broad.mit.edu	37	chr5	128994350	128994350	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attagggtctcttgcaagagAagatcattgtggtgtatgca	11	13	12	5	0	2	2	1	0	1	2	3	3	2	2	0	2	2	3	0	2	4	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:128994350A>G	ENST00000274487.4	+	15	2472	c.2327A>G	c.(2326-2328)gAa>gGa	p.E776G	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	776	Cys-rich.				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CTTGCAAGAGAAGATCATTGT	0.353													G	128994350	A	G	128994350	3	3	730	1	0	0	0	0	1	0	0	0	264	246	9	3	2385	3	ADAMTS19	5	128994350	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	26475280	128994350	51920910	21	55553											
PCDHB7	56129	broad.mit.edu	37	chr5	140552628	140552628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagaattgtttcagaccagaAcatgcaaattttactgctca	14	13	6	8	0	2	3	2	0	0	3	2	3	2	3	1	0	4	3	1	0	5	5			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:140552628A>G	ENST00000231137.3	+	1	386	c.212A>G	c.(211-213)aAc>aGc	p.N71S		NM_018940.2	NP_061763.1	Q9Y5E2	PCDB7_HUMAN		71	Cadherin 1.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(20)|lung(54)|ovary(5)|prostate(7)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	119			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TCAGACCAGAACATGCAAATT	0.493													G	140552628	A	G	140552628	3	3	730	1	0	0	0	0	1	0	0	0	11623	43	2	3	214	3	PCDHB7	5	140552628	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	11558278	140552628	40362632	22	55554											
BNIP1	662	broad.mit.edu	37	chr5	172590905	172590905	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctctatattgtgaaaaagcGgctctttccatttttgtgag	9	16	8	8	1	2	2	0	2	2	0	3	2	3	2	2	1	1	1	2	1	4	6			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:172590905G>A	ENST00000231668.9	+	7	901	c.797G>A	c.(796-798)cGg>cAg	p.R266Q	BNIP1_ENST00000351486.5_Missense_Mutation_p.R223Q|BNIP1_ENST00000352523.6_Missense_Mutation_p.R232Q|BNIP1_ENST00000393770.4_Missense_Mutation_p.R189Q	NM_013979.2	NP_053582.2	Q12981	SEC20_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 1	223					anti-apoptosis|apoptosis|endoplasmic reticulum membrane fusion|endoplasmic reticulum organization|induction of apoptosis|vesicle-mediated transport	integral to endoplasmic reticulum membrane|nuclear envelope|SNARE complex	protein binding			breast(1)|kidney(2)|large_intestine(2)|lung(3)|ovary(1)|pancreas(1)|skin(1)	11	Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			GTGAAAAAGCGGCTCTTTCCA	0.493													A	172590905	G	A	172590905	3	1	730	1	0	0	0	0	1	0	0	0	1482	1116	39	1	823	1	BNIP1	5	172590905	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	32038277	172590905	8324355	23	55555											
HK3	3101	broad.mit.edu	37	chr5	176316702	176316702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gctcacagcccatcatggtgCccactgtgtcgttcaccaca	8	9	8	16	1	3	0	3	0	0	0	4	0	3	0	3	1	2	2	3	1	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr5:176316702C>T	ENST00000292432.5	-	7	765	c.674G>A	c.(673-675)gGc>gAc	p.G225D		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	225	Regulatory.				glucose transport|glycolysis|transmembrane transport	cytosol|membrane	ATP binding|glucokinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CATCATGGTGCCCACTGTGTC	0.587													T	176316702	C	T	176316702	3	4	730	1	0	0	0	0	1	0	0	0	7247	739	26	2	2149	2	HK3	5	176316702	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	3725797	176316702	4598558	24	55556											
SLC17A2	10246	broad.mit.edu	37	chr6	25913553	25913553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactttatgtcctcagaggcGggtaagggtcctctctttgg	7	13	12	9	1	2	1	1	0	1	1	5	1	4	1	2	4	1	1	2	4	3	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:25913553G>A	ENST00000377850.3	-	12	1953	c.1429C>T	c.(1429-1431)Cgc>Tgc	p.R477C	SLC17A2_ENST00000265425.3_3'UTR|SLC17A2_ENST00000360488.3_Silent_p.P427P			O00624	NPT3_HUMAN	solute carrier family 17, member 2	0					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity	p.P427P(2)		endometrium(3)|kidney(1)|large_intestine(9)|lung(12)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	31						CCTCAGAGGCGGGTAAGGGTC	0.428													A	25913553	G	A	25913553	3	1	730	1	0	0	0	0	1	0	0	0	14511	1103	39	1	33	1	SLC17A2	6	25913553	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		25913553	145201514	25	55557											
STK19	8859	broad.mit.edu	37	chr6	31948281	31948281	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatgctgggagctggtggcTagctgtgcctggagctggga	6	9	19	7	0	0	1	0	0	0	1	0	4	0	4	1	5	5	5	1	5	1	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:31948281T>C	ENST00000375331.2	+	6	1023	c.857T>C	c.(856-858)cTa>cCa	p.L286P	STK19_ENST00000375333.2_Missense_Mutation_p.L290P	NM_004197.1	NP_004188.1	P49842	STK19_HUMAN	serine/threonine kinase 19	290						nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			skin(5)|upper_aerodigestive_tract(2)	7						AGCTGGTGGCTAGCTGTGCCT	0.577													C	31948281	T	C	31948281	3	2	730	1	0	0	0	0	1	0	0	0	15388	1522	53	3	891	3	STK19	6	31948281	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	6034728	31948281	139166786	26	55558											
DNAH8	1769	broad.mit.edu	37	chr6	38790794	38790794	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactctctggacagaggaccGcgatgtgaaagtgaaggtgt	11	8	15	7	2	1	3	0	2	1	1	2	7	1	5	1	3	0	0	1	3	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:38790794G>A	ENST00000359357.3	+	25	3307	c.3053G>A	c.(3052-3054)cGc>cAc	p.R1018H	DNAH8_ENST00000441566.1_Missense_Mutation_p.R1018H|DNAH8_ENST00000449981.2_Missense_Mutation_p.R1235H					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						ACAGAGGACCGCGATGTGAAA	0.453													A	38790794	G	A	38790794	3	1	730	1	0	0	0	0	1	0	0	0	4646	1087	38	1	3143	1	DNAH8	6	38790794	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	6842513	38790794	132324273	27	55559											
ZNF318	24149	broad.mit.edu	37	chr6	43305390	43305390	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctctaggccccccaagcCacggtcaacattttctgtaa	9	10	6	16	1	3	0	1	0	2	0	4	0	4	0	5	2	2	1	5	2	4	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:43305390C>T	ENST00000361428.2	-	10	6423	c.6346G>A	c.(6346-6348)Ggc>Agc	p.G2116S	ZNF318_ENST00000318149.3_Intron	NM_014345.2	NP_055160.2	Q5VUA4	ZN318_HUMAN	zinc finger protein 318	2116					meiosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(21)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	61			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0171)|OV - Ovarian serous cystadenocarcinoma(102;0.0579)			CCCCCCAAGCCACGGTCAACA	0.468													T	43305390	C	T	43305390	3	4	730	1	0	0	0	0	1	0	0	0	17937	594	21	2	497	2	ZNF318	6	43305390	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	4514596	43305390	127809677	28	55560											
REPS1	85021	broad.mit.edu	37	chr6	139264996	139264996	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcaacaactcacctggaaTaaatccgtttagatcaggct	13	12	6	10	1	3	1	3	0	0	1	4	2	4	2	2	2	2	2	2	2	6	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr6:139264996T>G	ENST00000450536.2	-	6	1484	c.910A>C	c.(910-912)Att>Ctt	p.I304L	REPS1_ENST00000258062.5_Missense_Mutation_p.I304L|REPS1_ENST00000415951.2_Missense_Mutation_p.I304L|REPS1_ENST00000367663.4_Missense_Mutation_p.I304L|REPS1_ENST00000409812.2_Missense_Mutation_p.I304L			Q96D71	REPS1_HUMAN	RALBP1 associated Eps domain containing 1	304	EH 2.					coated pit|plasma membrane	calcium ion binding|SH3 domain binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	19				GBM - Glioblastoma multiforme(68;0.000434)|OV - Ovarian serous cystadenocarcinoma(155;0.000548)		TCACCTGGAATAAATCCGTTT	0.328													G	139264996	T	G	139264996	3	3	730	1	0	0	0	0	1	0	0	0	13316	1406	49	5	1540	5	REPS1	6	139264996	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08	95959606	139264996	31850071	29	55561											
GLI3	2737	broad.mit.edu	37	chr7	42011989	42011989	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcattcttcccgctttgAggtagtgttgctgaggtcct	5	14	13	9	1	1	2	0	2	1	0	3	3	3	2	2	3	1	5	2	3	1	5			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:42011989A>G	ENST00000395925.3	-	13	2134	c.2050T>C	c.(2050-2052)Tca>Cca	p.S684P	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	684					negative regulation of alpha-beta T cell differentiation|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of smoothened signaling pathway|negative regulation of transcription from RNA polymerase II promoter|negative thymic T cell selection|positive regulation of alpha-beta T cell differentiation|positive regulation of transcription from RNA polymerase II promoter|thymocyte apoptosis	cilium|cytosol|nucleolus	beta-catenin binding|histone acetyltransferase binding|histone deacetylase binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TCCCGCTTTGAGGTAGTGTTG	0.562									Pallister-Hall syndrome;Greig Cephalopolysyndactyly				G	42011989	A	G	42011989	3	3	730	1	0	0	0	0	1	0	0	0	6495	304	11	3	2704	3	GLI3	7	42011989	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		42011989	117126674	30	55562											
ZSCAN21	7589	broad.mit.edu	37	chr7	99662020	99662020	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagagcttcagtcagcatgCgggcctcagctcccaccaga	10	6	11	14	1	3	2	3	0	0	2	4	3	4	2	3	1	4	3	3	1	1	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:99662020C>T	ENST00000292450.4	+	4	1366	c.1202C>T	c.(1201-1203)gCg>gTg	p.A401V	ZSCAN21_ENST00000456748.2_Missense_Mutation_p.R367W|ZSCAN21_ENST00000543588.1_Missense_Mutation_p.R367W|ZNF3_ENST00000413658.2_3'UTR	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	401					positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			AGTCAGCATGCGGGCCTCAGC	0.522													T	99662020	C	T	99662020	3	4	730	1	0	0	0	0	1	0	0	0	18331	768	27	1	1212	1	ZSCAN21	7	99662020	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	57650031	99662020	59476643	31	55563											
RBM28	55131	broad.mit.edu	37	chr7	127983808	127983808	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagctgctcactgcgggccgAgggcgggaggcggcccacaa	7	3	17	14	4	1	0	1	0	0	0	1	2	1	1	2	5	3	2	2	5	1	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:127983808A>C	ENST00000223073.2	-	1	154	c.40T>G	c.(40-42)Tcg>Gcg	p.S14A	RBM28_ENST00000415472.2_Missense_Mutation_p.S14A	NM_018077.2	NP_060547.2	Q9NW13	RBM28_HUMAN	RNA binding motif protein 28		RRM 1.				mRNA processing|RNA splicing	Golgi apparatus|nucleolus|spliceosomal complex	nucleotide binding|RNA binding			breast(1)|kidney(7)|large_intestine(3)|lung(8)|ovary(2)	21						CTGCGGGCCGAGGGCGGGAGG	0.662													C	127983808	A	C	127983808	3	2	730	1	0	0	0	0	1	0	0	0	13216	304	11	5	2315	5	RBM28	7	127983808	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	28321788	127983808	31154855	32	55564											
WDR91	29062	broad.mit.edu	37	chr7	134891927	134891927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttagtcctctgacactccGcatcaaagttcaggatcaca	11	10	8	12	1	4	1	3	1	1	0	6	2	6	2	2	2	0	3	2	2	2	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:134891927G>A	ENST00000354475.4	-	4	570	c.539C>T	c.(538-540)gCg>gTg	p.A180V	WDR91_ENST00000344400.5_Missense_Mutation_p.A180V|WDR91_ENST00000423565.1_Missense_Mutation_p.A145V	NM_014149.3	NP_054868.3	A4D1P6	WDR91_HUMAN	WD repeat domain 91	180								p.A180V(1)		breast(3)|endometrium(2)|kidney(2)|large_intestine(12)|lung(14)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	40						CTGACACTCCGCATCAAAGTT	0.458													A	134891927	G	A	134891927	3	1	730	1	0	0	0	0	1	0	0	0	17440	1087	38	1	1752	1	WDR91	7	134891927	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	6908119	134891927	24246736	33	55565											
MTPN	136319	broad.mit.edu	37	chr7	135614721	135614721	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtcagtggcttcaaaggCggtcagtccatctgggcctt	6	12	13	10	1	4	0	3	0	1	0	5	0	5	0	2	4	0	2	2	4	1	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr7:135614721C>A	ENST00000393085.3	-	4	525	c.310G>T	c.(310-312)Gcc>Tcc	p.A104S	AC015987.1_ENST00000419211.1_RNA|MTPN_ENST00000435723.1_Missense_Mutation_p.A38S	NM_001128619.2|NM_145808.3	NP_001122091.2|NP_665807.1	P58546	MTPN_HUMAN	myotrophin	104					cell growth|regulation of striated muscle tissue development|regulation of translation	cytoplasm	protein binding	p.A104T(1)		endometrium(1)|lung(4)|prostate(1)	6						GCTTCAAAGGCGGTCAGTCCA	0.502													A	135614721	C	A	135614721	3	1	730	1	0	0	0	0	1	0	0	0	10033	768	27	4	50	4	MTPN	7	135614721	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	722794	135614721	23523942	34	55566											
RGS22	26166	broad.mit.edu	37	chr8	101075815	101075815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accagtccgccctgctctctGgtccagcgctctcattcttt	4	13	7	17	2	3	0	1	0	3	0	7	0	5	0	4	1	2	2	4	1	0	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr8:101075815G>A	ENST00000360863.6	-	8	1375	c.1181C>T	c.(1180-1182)cCa>cTa	p.P394L	RGS22_ENST00000523437.1_Missense_Mutation_p.P382L|RGS22_ENST00000523287.1_Missense_Mutation_p.P213L	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	394					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CCTGCTCTCTGGTCCAGCGCT	0.368													A	101075815	G	A	101075815	3	1	730	1	0	0	0	0	1	0	0	0	13394	1348	47	2	2693	2	RGS22	8	101075815	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		101075815	45288207	35	55567											
OR13J1	392309	broad.mit.edu	37	chr9	35869709	35869709	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcagcacctggcggcCgagggcaccctcaggatggt	6	7	15	13	2	1	0	1	0	0	0	1	2	1	1	3	5	2	4	3	5	0	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr9:35869709C>T	ENST00000377981.2	-	1	752	c.690G>A	c.(688-690)tcG>tcA	p.S230S		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			ACCTGGCGGCCGAGGGCACCC	0.587													T	35869709	C	T	35869709	2	4	730	1	0	0	0	0	0	0	0	1	11020	639	23	1		1	OR13J1	9	35869709	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		35869709	105343722	36	55568											
ZEB1	6935	broad.mit.edu	37	chr10	31809579	31809579	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcaagccaatcttgcatccaAagaacaagaaacaatcaatg	19	7	5	10	0	3	2	2	0	1	2	4	2	4	2	2	0	4	1	2	0	8	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr10:31809579A>G	ENST00000446923.2	+	7	1659	c.1268A>G	c.(1267-1269)aAa>aGa	p.K423R	ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.K419R|ZEB1_ENST00000320985.10_Missense_Mutation_p.K439R|ZEB1_ENST00000361642.5_Missense_Mutation_p.K440R|ZEB1_ENST00000542815.3_Missense_Mutation_p.K372R	NM_001128128.2|NM_001174094.1	NP_001121600.1|NP_001167565.1	P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	439					cell proliferation|immune response|negative regulation of transcription from RNA polymerase II promoter|positive regulation of neuron differentiation	cytoplasm	E-box binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				CTTGCATCCAAAGAACAAGAA	0.373													G	31809579	A	G	31809579	3	3	730	1	0	0	0	0	1	0	0	0	17724	14	1	3	1356	3	ZEB1	10	31809579	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		31809579	103725168	37	55569											
ILK	3611	broad.mit.edu	37	chr11	6630830	6630830	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctcatcacacactggatGccgtatggatccctctacaa	11	10	6	14	1	3	0	2	0	2	0	5	2	4	2	2	2	2	1	2	2	3	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:6630830G>T	ENST00000396751.2	+	8	1272	c.816G>T	c.(814-816)atG>atT	p.M272I	ILK_ENST00000526711.1_3'UTR|ILK_ENST00000528995.1_Missense_Mutation_p.M211I|ILK_ENST00000420936.2_Missense_Mutation_p.M272I|ILK_ENST00000537806.1_Missense_Mutation_p.M138I|ILK_ENST00000299421.4_Missense_Mutation_p.M272I|RP11-732A19.2_ENST00000527398.1_RNA	NM_001014795.1	NP_001014795.1	Q13418	ILK_HUMAN	integrin-linked kinase	272	Protein kinase.				cell junction assembly|cell proliferation|cell-matrix adhesion|integrin-mediated signaling pathway|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of transcription, DNA-dependent	cytosol|focal adhesion	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)	1		Breast(177;7.61e-05)|Medulloblastoma(188;0.00263)|all_neural(188;0.026)|all_lung(207;0.152)		Epithelial(150;5.49e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00012)|Lung(200;0.00942)|LUSC - Lung squamous cell carcinoma(625;0.0163)		CACACTGGATGCCGTATGGAT	0.517													T	6630830	G	T	6630830	3	4	730	1	0	0	0	0	1	0	0	0	7771	1319	46	4	846	4	ILK	11	6630830	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		6630830	128375686	38	55570											
OR4S1	256148	broad.mit.edu	37	chr11	48328584	48328584	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gctgctgacaaacttatcatCctctttaacattgtgatgcc	10	14	6	11	0	2	2	1	2	1	0	3	2	3	2	2	0	4	2	2	0	3	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:48328584C>T	ENST00000319988.1	+	1	810	c.810C>T	c.(808-810)atC>atT	p.I270I		NM_001004725.1	NP_001004725.1	Q8NGB4	OR4S1_HUMAN	olfactory receptor, family 4, subfamily S, member 1	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|skin(3)	21						AACTTATCATCCTCTTTAACA	0.458													T	48328584	C	T	48328584	2	4	730	1	0	0	0	0	0	0	0	1	11158	845	30	2		2	OR4S1	11	48328584	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	41697754	48328584	86677932	39	55571											
OR4D5	219875	broad.mit.edu	37	chr11	123811091	123811091	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctttgtgccttgcatctaCgtctatacaaggccttttcg	7	16	7	11	2	3	0	0	0	3	0	4	0	3	0	2	1	4	1	2	1	4	7			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr11:123811091C>T	ENST00000307033.2	+	1	842	c.768C>T	c.(766-768)taC>taT	p.Y256Y		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	256					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CTTGCATCTACGTCTATACAA	0.532													T	123811091	C	T	123811091	2	4	730	1	0	0	0	0	0	0	0	1	11133	547	19	1		1	OR4D5	11	123811091	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	75482507	123811091	11195425	40	55572											
SLC2A14	144195	broad.mit.edu	37	chr12	7984361	7984361	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgataaattcctttatgatCtgcaaaataaaaggtgggag	15	13	9	4	0	1	2	0	2	1	0	2	3	2	3	1	2	1	1	1	2	7	6			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:7984361C>T	ENST00000543909.1	-	9	940		c.e9-1		SLC2A14_ENST00000542505.1_Intron|SLC2A14_ENST00000535295.1_Intron|SLC2A14_ENST00000340749.5_Splice_Site|SLC2A14_ENST00000431042.2_Splice_Site|SLC2A14_ENST00000539924.1_Splice_Site|SLC2A14_ENST00000396589.2_Splice_Site|SLC2A14_ENST00000542546.1_Intron			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14						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)		CCTTTATGATCTGCAAAATAA	0.448											OREG0021654	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	7984361	C	T	7984361	5	4	730	1	0	0	0	0	0	0	1	0	14637	927	32	2	1414	2	SLC2A14	12	7984361	Splice_Site	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		7984361	125867534	41	55573											
DENND5B	160518	broad.mit.edu	37	chr12	31632836	31632836	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggcctgcatgaatggtaaCggtgtgatcaagcatatact	12	10	11	8	1	1	2	1	2	0	0	1	2	1	2	1	3	4	3	1	3	5	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:31632836C>T	ENST00000389082.5	-	3	855	c.591G>A	c.(589-591)ccG>ccA	p.P197P	DENND5B_ENST00000536562.1_Silent_p.P232P|DENND5B_ENST00000354285.4_Silent_p.P219P|DENND5B_ENST00000306833.6_Silent_p.P232P|DENND5B_ENST00000545147.1_Intron	NM_144973.3	NP_659410.3	Q6ZUT9	DEN5B_HUMAN	DENN/MADD domain containing 5B	197	DENN.					integral to membrane				NS(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						TGAATGGTAACGGTGTGATCA	0.433													T	31632836	C	T	31632836	2	4	730	1	0	0	0	0	0	0	0	1	4476	523	19	1		1	DENND5B	12	31632836	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	23648475	31632836	102219059	42	55574											
RFX4	5992	broad.mit.edu	37	chr12	107083127	107083127	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atactggacactgtaataagAgccaactttgatgaggtagg	14	10	11	6	0	0	3	0	2	0	1	0	4	0	4	1	3	3	2	1	3	5	5			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr12:107083127A>G	ENST00000392842.1	+	7	1068	c.654A>G	c.(652-654)agA>agG	p.R218R	RFX4_ENST00000229387.5_Silent_p.R124R|RFX4_ENST00000357881.4_Silent_p.R227R|RP11-144F15.1_ENST00000551505.1_Intron	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	218					transcription, DNA-dependent	nucleus	DNA binding			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						CTGTAATAAGAGCCAACTTTG	0.413													G	107083127	A	G	107083127	2	3	730	1	0	0	0	0	0	0	0	1	13353	301	11	3		3	RFX4	12	107083127	Silent	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08	75450291	107083127	26768768	43	55575											
ZFYVE19	84936	broad.mit.edu	37	chr15	41100553	41100553	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtccctatcacagacctgCcagattcctctggtaaactg	9	11	7	14	0	2	2	1	0	1	2	4	2	4	2	4	1	2	1	4	1	3	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr15:41100553C>A	ENST00000336455.5	+	2	281	c.226C>A	c.(226-228)Cca>Aca	p.P76T	ZFYVE19_ENST00000563530.1_Intron|ZFYVE19_ENST00000564258.1_Intron|ZFYVE19_ENST00000355341.4_Intron|ZFYVE19_ENST00000570108.1_Intron|ZFYVE19_ENST00000299173.10_Intron	NM_032850.4	NP_116239.3	Q96K21	ZFY19_HUMAN	zinc finger, FYVE domain containing 19	244							zinc ion binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CACAGACCTGCCAGATTCCTC	0.542													A	41100553	C	A	41100553	3	1	730	1	0	0	0	0	1	0	0	0	17766	754	26	4		4	ZFYVE19	15	41100553	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		41100553	61430839	44	55576											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000540499.2_Missense_Mutation_p.R120K|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	730	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	49531285	90631838	11899554	45	55577											
UQCRC2	7385	broad.mit.edu	37	chr16	21982886	21982886	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcaagttgctgaacagttTctcaacatgaggggtgggct	11	10	13	7	0	1	2	1	2	1	0	2	2	1	2	0	3	4	5	0	3	4	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr16:21982886T>G	ENST00000268379.4	+	9	1475	c.711T>G	c.(709-711)ttT>ttG	p.F237L	UQCRC2_ENST00000561553.1_Missense_Mutation_p.F237L	NM_003366.2	NP_003357.2	P22695	QCR2_HUMAN	ubiquinol-cytochrome c reductase core protein II	237					aerobic respiration|oxidative phosphorylation|proteolysis|respiratory electron transport chain|transport		metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|large_intestine(5)|lung(4)|prostate(1)|skin(1)	15				GBM - Glioblastoma multiforme(48;0.0264)		CTGAACAGTTTCTCAACATGA	0.403													G	21982886	T	G	21982886	3	3	730	1	0	0	0	0	1	0	0	0	17122	1780	62	5	745	5	UQCRC2	16	21982886	Missense_Mutation	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08		21982886	68371867	46	55578											
KIF1C	10749	broad.mit.edu	37	chr17	4905406	4905406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gaaccagagtgctcagctatCctactctgtggaggtaagcc	10	9	11	11	0	2	1	1	0	1	1	3	3	3	2	3	2	5	3	3	2	4	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:4905406C>T	ENST00000320785.5	+	6	773	c.416C>T	c.(415-417)tCc>tTc	p.S139F		NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C	139	Kinesin-motor.				microtubule-based movement|retrograde vesicle-mediated transport, Golgi to ER	endoplasmic reticulum|Golgi apparatus|microtubule	ATP binding|microtubule motor activity			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						GCTCAGCTATCCTACTCTGTG	0.572													T	4905406	C	T	4905406	3	4	730	1	0	0	0	0	1	0	0	0	8343	855	30	2	430	2	KIF1C	17	4905406	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		4905406	76289804	47	55579											
ACADVL	37	broad.mit.edu	37	chr17	7126528	7126528	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatccaggagaagctggcacGgatggttatgctgcagtatg	10	9	15	7	1	0	1	0	0	0	1	1	4	1	2	1	4	3	6	1	4	3	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:7126528G>A	ENST00000356839.5	+	11	1333	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	ACADVL_ENST00000350303.5_Missense_Mutation_p.R363Q|ACADVL_ENST00000543245.2_Missense_Mutation_p.R408Q	NM_000018.3|NM_001270448.1	NP_000009.1|NP_001257377.1	P49748	ACADV_HUMAN	acyl-CoA dehydrogenase, very long chain	385	Catalytic.				energy derivation by oxidation of organic compounds|fatty acid beta-oxidation using acyl-CoA dehydrogenase|negative regulation of fatty acid biosynthetic process|negative regulation of fatty acid oxidation|regulation of cholesterol metabolic process|temperature homeostasis	mitochondrial inner membrane|mitochondrial nucleoid	long-chain-acyl-CoA dehydrogenase activity			breast(2)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|liver(2)|lung(1)|ovary(4)|skin(1)	21						AAGCTGGCACGGATGGTTATG	0.562													A	7126528	G	A	7126528	3	1	730	1	0	0	0	0	1	0	0	0	116	1116	39	1	1196	1	ACADVL	17	7126528	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	2221122	7126528	74068682	48	55580											
TEX2	55852	broad.mit.edu	37	chr17	62291171	62291171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccccgacgaagacgaccctGgggacacagccaatggcact	11	3	12	15	3	0	1	0	0	0	1	0	5	0	2	4	3	1	1	4	3	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr17:62291171G>A	ENST00000258991.3	-	2	491	c.407C>T	c.(406-408)cCa>cTa	p.P136L	TEX2_ENST00000584379.1_Missense_Mutation_p.P136L|TEX2_ENST00000583097.1_Missense_Mutation_p.P136L			Q8IWB9	TEX2_HUMAN	testis expressed 2	136					signal transduction|sphingolipid metabolic process	integral to membrane				breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		AGACGACCCTGGGGACACAGC	0.537													A	62291171	G	A	62291171	3	1	730	1	0	0	0	0	1	0	0	0	15881	1348	47	2	3041	2	TEX2	17	62291171	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	55164643	62291171	18904039	49	55581											
DSC2	1824	broad.mit.edu	37	chr18	28651576	28651576	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacttaagacttacaaaagAgcaatgctatgcccaacaat	17	8	7	9	0	0	2	0	0	0	2	0	3	0	3	1	1	5	2	1	1	8	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:28651576A>C	ENST00000280904.6	-	13	2563	c.2120T>G	c.(2119-2121)cTc>cGc	p.L707R	DSC2_ENST00000251081.6_Missense_Mutation_p.L707R	NM_024422.3	NP_077740.1	Q02487	DSC2_HUMAN	desmocollin 2	707					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(1)	21			OV - Ovarian serous cystadenocarcinoma(10;0.0241)			CTTACAAAAGAGCAATGCTAT	0.413													C	28651576	A	C	28651576	3	2	730	1	0	0	0	0	1	0	0	0	4805	304	11	5	641	5	DSC2	18	28651576	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		28651576	49425672	50	55582											
DOK6	220164	broad.mit.edu	37	chr18	67406223	67406223	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtgacacaggagaaggaCtattcacttttcaaacaagg	14	10	10	7	0	2	2	2	1	0	1	2	4	2	3	0	3	1	0	0	3	4	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr18:67406223C>T	ENST00000382713.5	+	6	812	c.622C>T	c.(622-624)Cta>Tta	p.L208L	DOK6_ENST00000584435.1_3'UTR	NM_152721.5	NP_689934.2	Q6PKX4	DOK6_HUMAN	docking protein 6	208	IRS-type PTB.						insulin receptor binding			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	20		Colorectal(73;0.083)|Esophageal squamous(42;0.131)				AGGAGAAGGACTATTCACTTT	0.418													T	67406223	C	T	67406223	2	4	730	1	0	0	0	0	0	0	0	1	4740	564	20	2		2	DOK6	18	67406223	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	38754647	67406223	10671025	51	55583											
UBXN6	80700	broad.mit.edu	37	chr19	4446151	4446151	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgcagggcctcccggacGaacccgtacaccgcccccag	7	4	10	20	4	1	0	0	0	1	0	2	2	2	1	6	2	3	2	6	2	2	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:4446151G>A	ENST00000301281.6	-	10	1219	c.1095C>T	c.(1093-1095)ttC>ttT	p.F365F	UBXN6_ENST00000394765.3_Silent_p.F312F	NM_025241.2	NP_079517.1	Q9BZV1	UBXN6_HUMAN	UBX domain protein 6	365	UBX.					microtubule organizing center|nucleus	protein binding			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(1)	12						CCTCCCGGACGAACCCGTACA	0.692													A	4446151	G	A	4446151	2	1	730	1	0	0	0	0	0	0	0	1	17019	1049	37	1		1	UBXN6	19	4446151	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08		4446151	54682832	52	55584											
ILVBL	10994	broad.mit.edu	37	chr19	15227282	15227282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ccacccagtctggggcccagGtctggccctgaaggccctcc	5	6	12	18	0	2	1	0	1	2	0	3	1	3	1	6	5	0	0	6	5	1	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:15227282G>T	ENST00000263383.3	-	11	1377	c.1238C>A	c.(1237-1239)aCc>aAc	p.T413N	ILVBL_ENST00000534378.1_Missense_Mutation_p.T306N	NM_006844.3	NP_006835.2	A1L0T0	ILVBL_HUMAN	ilvB (bacterial acetolactate synthase)-like	413						integral to membrane	magnesium ion binding|thiamine pyrophosphate binding|transferase activity			NS(3)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)	26						TGGGGCCCAGGTCTGGCCCTG	0.637													T	15227282	G	T	15227282	3	4	730	1	0	0	0	0	1	0	0	0	7773	1261	44	4	684	4	ILVBL	19	15227282	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	10781131	15227282	43901701	53	55585											
ZNF460	10794	broad.mit.edu	37	chr19	57803125	57803125	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcctttagcattcgaaaaGacctcattcgacacttcaac	14	10	5	12	2	2	1	2	0	0	1	4	3	2	1	2	0	3	1	2	0	5	5			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr19:57803125G>T	ENST00000360338.3	+	3	1538	c.1216G>T	c.(1216-1218)Gac>Tac	p.D406Y	ZNF460_ENST00000537645.1_Missense_Mutation_p.D365Y	NM_006635.3	NP_006626.3	Q14592	ZN460_HUMAN	zinc finger protein 460	406					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|large_intestine(2)|lung(9)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0694)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATTCGAAAAGACCTCATTCG	0.473													T	57803125	G	T	57803125	3	4	730	1	0	0	0	0	1	0	0	0	18025	942	33	4	1226	4	ZNF460	19	57803125	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	42575843	57803125	1325858	54	55586											
ENTPD6	955	broad.mit.edu	37	chr20	25187970	25187970	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaggtcttctacgggatcAtgtttgatgcaggaagcact	10	11	12	8	2	3	1	1	1	2	0	3	4	3	3	0	3	3	3	0	3	2	3			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:25187970A>T	ENST00000360031.2	+	3	492	c.310A>T	c.(310-312)Atg>Ttg	p.M104L	ENTPD6_ENST00000433259.2_Missense_Mutation_p.M105L|ENTPD6_ENST00000376652.4_Missense_Mutation_p.M105L|ENTPD6_ENST00000354989.5_Missense_Mutation_p.M88L	NM_001247.2	NP_001238.2	O75354	ENTP6_HUMAN	ectonucleoside triphosphate diphosphohydrolase 6 (putative)	105						Golgi membrane|integral to membrane	nucleoside-diphosphatase activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(16)|prostate(1)|skin(1)	27						CTACGGGATCATGTTTGATGC	0.662													T	25187970	A	T	25187970	3	4	730	1	0	0	0	0	1	0	0	0	5184	217	8	5	326	5	ENTPD6	20	25187970	Missense_Mutation	SNP	A	TCGA-S9-A7QY-01A-11D-A34A-08		25187970	37837550	55	55587											
PCIF1	63935	broad.mit.edu	37	chr20	44569128	44569128	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	caccagtcggaccctttgggGctgaatgcgaccccactgcc	7	7	11	16	2	0	1	0	1	0	0	1	3	0	2	5	3	2	1	5	3	1	1			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr20:44569128G>T	ENST00000372409.3	+	5	628	c.264G>T	c.(262-264)ggG>ggT	p.G88G		NM_022104.3	NP_071387.1	Q9H4Z3	PCIF1_HUMAN	PDX1 C-terminal inhibiting factor 1	88						nucleus				central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	20						ACCCTTTGGGGCTGAATGCGA	0.622													T	44569128	G	T	44569128	2	4	730	1	0	0	0	0	0	0	0	1	11656	1190	42	4		4	PCIF1	20	44569128	Silent	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	19381158	44569128	18456392	56	55588											
PCNT	5116	broad.mit.edu	37	chr21	47809221	47809221	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaaattagcagccacatgCgtgaaagctttctcatgagc	12	10	9	10	1	1	3	1	3	1	0	2	3	1	3	1	0	5	2	1	0	3	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chr21:47809221C>T	ENST00000359568.5	+	19	3822	c.3715C>T	c.(3715-3717)Cgt>Tgt	p.R1239C	PCNT_ENST00000480896.1_3'UTR	NM_006031.5	NP_006022.3	O95613	PCNT_HUMAN	pericentrin	1239					cilium assembly|G2/M transition of mitotic cell cycle	cytosol|microtubule	calmodulin binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(15)|liver(2)|lung(41)|ovary(5)|pancreas(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	104	Breast(49;0.112)					CAGCCACATGCGTGAAAGCTT	0.572													T	47809221	C	T	47809221	3	4	730	1	0	0	0	0	1	0	0	0	11666	768	27	1	3789	1	PCNT	21	47809221	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08		47809221	320674	57	55589											
TLR7	51284	broad.mit.edu	37	chrX	12905355	12905355	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttctggatataagcagtaaTagccattattttcaatcaga	14	14	7	6	0	3	1	2	0	1	1	3	2	3	2	1	1	2	3	1	1	6	8			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:12905355T>C	ENST00000380659.3	+	3	1867	c.1728T>C	c.(1726-1728)aaT>aaC	p.N576N		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	576					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	TAAGCAGTAATAGCCATTATT	0.373													C	12905355	T	C	12905355	2	2	730	1	0	0	0	0	0	0	0	1	16056	1403	49	3		3	TLR7	23	12905355	Silent	SNP	T	TCGA-S9-A7QY-01A-11D-A34A-08		12905355	142365205	58	55590											
PHEX	5251	broad.mit.edu	37	chrX	22094543	22094543	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagtagaaggcgggacacCgaagccatacagaaagccaa	17	3	11	10	2	1	2	1	0	0	2	1	4	1	3	3	2	3	1	3	2	6	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:22094543C>T	ENST00000379374.4	+	4	952	c.387C>T	c.(385-387)acC>acT	p.T129T	PHEX_ENST00000535894.1_Silent_p.T32T|PHEX_ENST00000537599.1_Silent_p.T129T	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	129					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						GGCGGGACACCGAAGCCATAC	0.388													T	22094543	C	T	22094543	2	4	730	1	0	0	0	0	0	0	0	1	11896	639	23	1		1	PHEX	23	22094543	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	9189188	22094543	133176017	59	55591											
DCAF8L1	139425	broad.mit.edu	37	chrX	27998610	27998610	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccctgtgcttggccacaCgcttagtattctcgcaatat	7	13	8	13	2	1	0	0	0	1	0	3	0	2	0	3	1	1	4	3	1	4	5	rs146103278		TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:27998610C>T	ENST00000441525.1	-	1	956	c.842G>A	c.(841-843)cGt>cAt	p.R281H		NM_001017930.1	NP_001017930.1	A6NGE4	DC8L1_HUMAN	DDB1 and CUL4 associated factor 8-like 1	281										NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(24)|ovary(3)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	56						CTTGGCCACACGCTTAGTATT	0.498													T	27998610	C	T	27998610	3	4	730	1	0	0	0	0	1	0	0	0	4311	536	19	1	964	1	DCAF8L1	23	27998610	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	5904067	27998610	127271950	60	55592											
NYX	60506	broad.mit.edu	37	chrX	41333636	41333636	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcgcgctgcacctcaaCggcaaccgcctcaccgtgct	6	7	8	20	5	2	0	2	0	0	0	4	0	3	0	5	1	4	4	5	1	2	0			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:41333636C>T	ENST00000342595.2	+	2	1386	c.930C>T	c.(928-930)aaC>aaT	p.N310N	NYX_ENST00000378220.1_Silent_p.N310N	NM_022567.2	NP_072089.1	Q9GZU5	NYX_HUMAN	nyctalopin	310					response to stimulus|visual perception	intracellular|proteinaceous extracellular matrix				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(11)|upper_aerodigestive_tract(1)	17						TGCACCTCAACGGCAACCGCC	0.677													T	41333636	C	T	41333636	2	4	730	1	0	0	0	0	0	0	0	1	10873	535	19	1		1	NYX	23	41333636	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	13335026	41333636	113936924	61	55593											
TAF1	6872	broad.mit.edu	37	chrX	70612782	70612782	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggaacagatgcagaccttCgtcgcctttccctgaaaaat	12	9	8	12	2	0	3	0	1	0	2	3	4	1	4	3	1	2	1	3	1	3	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:70612782C>T	ENST00000449580.1	+	20	3037	c.2986C>T	c.(2986-2988)Cgt>Tgt	p.R996C	TAF1_ENST00000423759.1_Missense_Mutation_p.R1017C|TAF1_ENST00000276072.3_Missense_Mutation_p.R1017C|TAF1_ENST00000373790.4_Missense_Mutation_p.R996C			P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	996					G1 phase of mitotic cell cycle|interspecies interaction between organisms|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription initiation from RNA polymerase II promoter|protein autophosphorylation|regulation of transcription involved in G2/M-phase of mitotic cell cycle|RNA polymerase II transcriptional preinitiation complex assembly|transcription elongation from RNA polymerase II promoter|viral reproduction	MLL1 complex|transcription factor TFIID complex	ATP binding|histone acetyl-lysine binding|histone acetyltransferase activity|p53 binding|protein binding|protein serine/threonine kinase activity|sequence-specific DNA binding|TBP-class protein binding|transcription coactivator activity	p.R996C(1)|p.R1017C(1)		breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGCAGACCTTCGTCGCCTTTC	0.433													T	70612782	C	T	70612782	3	4	730	1	0	0	0	0	1	0	0	0	15610	884	31	1	3127	1	TAF1	23	70612782	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	29279146	70612782	84657778	62	55594											
RAP2C	57826	broad.mit.edu	37	chrX	131348282	131348282	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgacgatctcagcaaaaaGttcatccaccattgatttac	13	11	5	12	1	2	2	2	2	1	0	4	3	3	2	3	0	2	2	3	0	3	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:131348282G>T	ENST00000342983.2	-	3	1212	c.466C>A	c.(466-468)Ctt>Att	p.L156I	RAP2C_ENST00000370874.1_Missense_Mutation_p.L156I|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	156					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					TCAGCAAAAAGTTCATCCACC	0.443													T	131348282	G	T	131348282	3	4	730	1	0	0	0	0	1	0	0	0	13130	1029	36	4	89	4	RAP2C	23	131348282	Missense_Mutation	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	60735500	131348282	23922278	63	55595											
DDX26B	203522	broad.mit.edu	37	chrX	134707958	134707958	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagatccaatctgctgaaaaCgcacaagtttattgttggac	13	11	9	8	1	1	2	0	1	1	1	2	4	2	3	1	1	2	4	1	1	5	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:134707958C>T	ENST00000370752.4	+	12	1935	c.1601C>T	c.(1600-1602)aCg>aTg	p.T534M	DDX26B_ENST00000481908.1_3'UTR	NM_182540.4	NP_872346.3	Q5JSJ4	DX26B_HUMAN	DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 26B	534										large_intestine(1)|lung(8)	9	Acute lymphoblastic leukemia(192;6.56e-05)					CTGCTGAAAACGCACAAGTTT	0.358													T	134707958	C	T	134707958	3	4	730	1	0	0	0	0	1	0	0	0	4387	536	19	1	1647	1	DDX26B	23	134707958	Missense_Mutation	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	3359676	134707958	20562602	64	55596											
OPN1MW	2652	broad.mit.edu	37	chrX	153459015	153459015	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggaccatacgccttcttCgcatgctttgctgctgccaa	6	12	10	13	2	1	0	0	0	1	0	2	1	1	1	3	2	5	4	3	2	2	4			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153459015C>T	ENST00000369935.5	+	5	921	c.861C>T	c.(859-861)ttC>ttT	p.F287F		NM_000513.2	NP_000504.1	P04001	OPSG_HUMAN	opsin 1 (cone pigments), medium-wave-sensitive	287					phototransduction|protein-chromophore linkage|visual perception	integral to plasma membrane	G-protein coupled receptor activity|photoreceptor activity			endometrium(1)|lung(1)	2	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					ACGCCTTCTTCGCATGCTTTG	0.562													T	153459015	C	T	153459015	2	4	730	1	0	0	0	0	0	0	0	1	10954	883	31	1		1	OPN1MW	23	153459015	Silent	SNP	C	TCGA-S9-A7QY-01A-11D-A34A-08	18751057	153459015	1811545	65	55597											
TAZ	6901	broad.mit.edu	37	chrX	153641818	153641818	+	Splice_Site	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgcatctgtccctgcttaGgacccctgcagctgcagaca	8	10	9	14	0	1	1	0	0	1	1	2	2	2	2	3	1	5	5	3	1	1	2			TCGA-S9-A7QY-01A-11D-A34A-08	TCGA-S9-A7QY-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3b118d0f-04ee-4217-952b-9c720413fb1a	51e0f1be-6e26-4b2e-b79e-731ec9b5c4d8	g.chrX:153641818G>T	ENST00000299328.5	+	4	573		c.e4-1		TAZ_ENST00000475699.1_Splice_Site|TAZ_ENST00000350743.4_Splice_Site|TAZ_ENST00000369776.4_Splice_Site|TAZ_ENST00000351413.4_Splice_Site|TAZ_ENST00000369790.4_Splice_Site	NM_000116.3	NP_000107.1	Q16635	TAZ_HUMAN	tafazzin						cardiac muscle contraction|cardiac muscle tissue development|cardiolipin biosynthetic process|cristae formation|hemopoiesis|mitochondrial ATP synthesis coupled electron transport|mitochondrial respiratory chain complex I assembly|skeletal muscle tissue development	integral to membrane|mitochondrion	1-acylglycerophosphocholine O-acyltransferase activity			lung(1)	1	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TCCCTGCTTAGGACCCCTGCA	0.622													T	153641818	G	T	153641818	5	4	730	1	0	0	0	0	0	0	1	0	15693	1014	35	4	298	4	TAZ	23	153641818	Splice_Site	SNP	G	TCGA-S9-A7QY-01A-11D-A34A-08	182803	153641818	1628742	66	55598											
NECAP2	55707	broad.mit.edu	37	chr1	16767279	16767279	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ggaggagagcgggtacgagtCggtgctctgtgtcaagcctg	7	8	18	8	3	2	1	1	0	1	1	3	4	2	2	1	4	4	2	1	4	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:16767279C>G	ENST00000337132.5	+	1	113	c.23C>G	c.(22-24)tCg>tGg	p.S8W	NECAP2_ENST00000457722.2_Intron|NECAP2_ENST00000443980.2_Missense_Mutation_p.S8W|NECAP2_ENST00000504551.2_Missense_Mutation_p.S8W|NECAP2_ENST00000486390.1_3'UTR|NECAP2_ENST00000406746.1_Missense_Mutation_p.S8W	NM_001145278.1|NM_018090.4	NP_001138750.1|NP_060560.1	Q9NVZ3	NECP2_HUMAN	NECAP endocytosis associated 2	8					endocytosis|protein transport	clathrin vesicle coat|coated pit|plasma membrane				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9		Colorectal(325;0.000147)|Renal(390;0.00145)|Lung NSC(340;0.00215)|Breast(348;0.00224)|all_lung(284;0.00351)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(227;1.13e-05)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|Kidney(64;0.000181)|KIRC - Kidney renal clear cell carcinoma(64;0.00268)|STAD - Stomach adenocarcinoma(196;0.012)|READ - Rectum adenocarcinoma(331;0.0649)		GGGTACGAGTCGGTGCTCTGT	0.652											OREG0013136	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	16767279	C	G	16767279	3	3	731	1	0	0	0	0	1	0	0	0	10384	893	31	4	25	4	NECAP2	1	16767279	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		16767279	232483342	1	55599											
FCN3	8547	broad.mit.edu	37	chr1	27697141	27697141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtagtggtctacctcacCgaggaggcggaaggtcgcat	8	8	15	10	3	2	0	1	0	1	0	3	3	2	2	2	6	1	2	2	6	3	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:27697141C>T	ENST00000270879.4	-	7	609	c.604G>A	c.(604-606)Ggt>Agt	p.G202S	FCN3_ENST00000354982.2_Missense_Mutation_p.G191S	NM_003665.2	NP_003656.2	O75636	FCN3_HUMAN	ficolin (collagen/fibrinogen domain containing) 3	202	Fibrinogen C-terminal.				complement activation, lectin pathway|signal transduction	collagen|extracellular space	receptor binding|sugar binding			endometrium(2)|kidney(2)|large_intestine(1)|lung(1)|urinary_tract(1)	7		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0415)|OV - Ovarian serous cystadenocarcinoma(117;1.42e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00128)|KIRC - Kidney renal clear cell carcinoma(1967;0.00155)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TCTACCTCACCGAGGAGGCGG	0.577													T	27697141	C	T	27697141	3	4	731	1	0	0	0	0	1	0	0	0	5842	652	23	1	303	1	FCN3	1	27697141	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	10929862	27697141	221553480	2	55600											
FUBP1	8880	broad.mit.edu	37	chr1	78426109	78426111	+	In_Frame_Del	DEL	AGG	AGG	-																															gttccaggccctggaggcccAggaggtccatgggggcctgg																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78426109_78426111delAGG	ENST00000370767.1	-	15	1501_1503	c.1414_1416delCCT	c.(1414-1416)cctdel	p.P472del	FUBP1_ENST00000436586.2_In_Frame_Del_p.P493del|FUBP1_ENST00000370768.2_In_Frame_Del_p.P472del			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	472	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CTGGAGGCCCAGGAGGTCCATGG	0.542			"F, N"		oligodendroglioma								-	78426111	AGG	-	78426109	7	5	731	1	0	1	0	1	0	0	0	0	6144	175	7	0	542	0	FUBP1	1	78426109	In_Frame_Del	DEL	AGG	TCGA-S9-A7QZ-01A-12D-A34J-08	50728968	78426109	170824512	3	55601											
FUBP1	8880	broad.mit.edu	37	chr1	78430386	78430386	+	Frame_Shift_Del	DEL	A	A	-																															actcattccgaacttctctgAaaccgccttgatcacgaatt																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:78430386delA	ENST00000370767.1	-	10	869	c.782delT	c.(781-783)ttcfs	p.F261fs	FUBP1_ENST00000436586.2_Frame_Shift_Del_p.F282fs|FUBP1_ENST00000370768.2_Frame_Shift_Del_p.F261fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	261					transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AACTTCTCTGAAACCGCCTTG	0.348			"F, N"		oligodendroglioma								-	78430386	A	-	78430386	7	5	731	1	0	1	0	1	0	0	0	0	6144	246	9	0	1196	0	FUBP1	1	78430386	Frame_Shift_Del	DEL	A	TCGA-S9-A7QZ-01A-12D-A34J-08	4277	78430386	170820235	4	55602											
CLCA1	1179	broad.mit.edu	37	chr1	86959231	86959231	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagaagcaaggtggctttgtAgtggacaaaaacaccaaaat	17	7	10	7	0	0	1	0	0	0	1	0	2	0	2	1	3	2	3	1	3	7	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:86959231A>T	ENST00000234701.3	+	11	1980	c.1629A>T	c.(1627-1629)gtA>gtT	p.V543V	CLCA1_ENST00000394711.1_Silent_p.V543V			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	543					calcium ion transport	extracellular space|integral to plasma membrane	chloride channel activity			NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		GTGGCTTTGTAGTGGACAAAA	0.443													T	86959231	A	T	86959231	2	4	731	1	0	0	0	0	0	0	0	1	3488	407	15	5		5	CLCA1	1	86959231	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	8528845	86959231	162291390	5	55603											
SLC35A3	23443	broad.mit.edu	37	chr1	100480866	100480866	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acttttttttaggtttctttGgaagtatatttggattaatg	9	22	8	2	0	1	0	0	0	1	0	1	2	1	2	0	3	0	2	0	3	5	10			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:100480866G>A	ENST00000370155.3	+	6	1035	c.643G>A	c.(643-645)Gga>Aga	p.G215R	SLC35A3_ENST00000427993.2_Missense_Mutation_p.G215R|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370153.1_Missense_Mutation_p.G257R|SLC35A3_ENST00000465289.1_Intron	NM_012243.1	NP_036375.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	215					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity			biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		AGGTTTCTTTGGAAGTATATT	0.303													A	100480866	G	A	100480866	3	1	731	1	0	0	0	0	1	0	0	0	14666	1349	47	2	661	2	SLC35A3	1	100480866	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	13521635	100480866	148769755	6	55604											
NOTCH2NL	388677	broad.mit.edu	37	chr1	145273385	145273385	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcgaccttgcctgaatggcgGcacatgccatatgctcagcc	8	9	10	14	2	1	1	1	1	0	0	2	2	1	1	4	2	4	2	4	2	2	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:145273385G>A	ENST00000369340.3	+	4	683	c.239G>A	c.(238-240)gGc>gAc	p.G80D	RP11-458D21.5_ENST00000468030.1_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000344859.3_Missense_Mutation_p.G80D|NOTCH2NL_ENST00000362074.6_Missense_Mutation_p.G80D			Q7Z3S9	NT2NL_HUMAN	notch 2 N-terminal like	80	EGF-like 3.				cell differentiation|multicellular organismal development|Notch signaling pathway	cytoplasm|extracellular region	calcium ion binding	p.G80D(2)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	27						CTGAATGGCGGCACATGCCAT	0.532													A	145273385	G	A	145273385	3	1	731	1	0	0	0	0	1	0	0	0	10625	1203	42	2	245	2	NOTCH2NL	1	145273385	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	44792519	145273385	103977236	7	55605											
NTRK1	4914	broad.mit.edu	37	chr1	156844179	156844181	+	In_Frame_Del	DEL	CTT	CTT	-																															ctccctcctgctgcagtctcCttctcgccggtgggtgagta																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:156844179_156844181delCTT	ENST00000524377.1	+	9	1223_1225	c.1182_1184delCTT	c.(1180-1185)tccttc>tcc	p.F395del	NTRK1_ENST00000368196.3_Intron|NTRK1_ENST00000358660.3_Intron|NTRK1_ENST00000392302.2_Intron	NM_002529.3	NP_002520.2	P04629	NTRK1_HUMAN	neurotrophic tyrosine kinase, receptor, type 1	395					activation of adenylate cyclase activity|activation of MAPKK activity|activation of phospholipase C activity|cell differentiation|nerve growth factor receptor signaling pathway|nervous system development|phosphatidylinositol-mediated signaling|Ras protein signal transduction	endosome|integral to plasma membrane	ATP binding|neurotrophin receptor activity|transmembrane receptor protein serine/threonine kinase activity|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(35)|ovary(8)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	74	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)				Imatinib(DB00619)	CTGCAGTCTCCTTCTCGCCGGTG	0.601			T	"TPM3, TPR, TFG"	papillary thyroid					TSP Lung(10;0.080)			-	156844181	CTT	-	156844179	7	5	731	1	0	1	0	1	0	0	0	0	10782	668	24	0	1346	0	NTRK1	1	156844179	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	11570794	156844179	92406442	8	55606											
ATP1B1	481	broad.mit.edu	37	chr1	169100780	169100784	+	Frame_Shift_Del	DEL	AAGTT	AAGTT	-																															acgttttgatgtaaaaattgAagttaagagctgatcacaag																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:169100780_169100784delAAGTT	ENST00000367816.1	+	7	1428_1432	c.899_903delAAGTT	c.(898-903)gaagttfs	p.EV300fs	ATP1B1_ENST00000499679.3_Frame_Shift_Del_p.EV244fs|ATP1B1_ENST00000367813.3_Frame_Shift_Del_p.EV292fs|ATP1B1_ENST00000367815.4_Frame_Shift_Del_p.EV300fs			P05026	AT1B1_HUMAN	ATPase, Na+/K+ transporting, beta 1 polypeptide	300					ATP biosynthetic process|blood coagulation|leukocyte migration	sodium:potassium-exchanging ATPase complex	protein binding|sodium:potassium-exchanging ATPase activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	14	all_hematologic(923;0.208)					GTAAAAATTGAAGTTAAGAGCTGAT	0.371													-	169100784	AAGTT	-	169100780	7	5	731	1	0	1	0	1	0	0	0	0	1137	246	9	0	921	0	ATP1B1	1	169100780	Frame_Shift_Del	DEL	AAGTT	TCGA-S9-A7QZ-01A-12D-A34J-08	12256601	169100780	80149841	9	55607											
CACNA1S	779	broad.mit.edu	37	chr1	201010635	201010635	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcacagaagggactgacccaGgaccctgcagggttggccaa	11	4	14	12	0	0	2	0	1	0	1	0	4	0	4	3	4	1	3	3	4	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:201010635G>A	ENST00000362061.3	-	41	5357	c.5131C>T	c.(5131-5133)Ctg>Ttg	p.L1711L	CACNA1S_ENST00000367338.3_Silent_p.L1692L|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1711					axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Magnesium Sulfate(DB00653)|Verapamil(DB00661)	GACTGACCCAGGACCCTGCAG	0.557													A	201010635	G	A	201010635	2	1	731	1	0	0	0	0	0	0	0	1	2573	991	35	2		2	CACNA1S	1	201010635	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	31909855	201010635	48239986	10	55608											
SYT2	127833	broad.mit.edu	37	chr1	202568405	202568407	+	In_Frame_Del	DEL	TCT	TCT	-																															gttgaagtatgggttcagggTcttcttcttcacggttgtct																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:202568405_202568407delTCT	ENST00000367267.1	-	8	1184_1186	c.992_994delAGA	c.(991-996)aagacc>acc	p.K331del	SYT2_ENST00000367268.4_In_Frame_Del_p.K331del	NM_001136504.1	NP_001129976.1	Q8N9I0	SYT2_HUMAN	synaptotagmin II	331	C2 2.|Phospholipid binding (By similarity).				neurotransmitter secretion	cell junction|chromaffin granule membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	protein binding|transporter activity			NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(9)|ovary(2)|skin(2)|urinary_tract(1)	29			BRCA - Breast invasive adenocarcinoma(75;0.169)		Botulinum Toxin Type B(DB00042)	GGGTTCAGGGTCTTCTTCTTCAC	0.542													-	202568407	TCT	-	202568405	7	5	731	1	0	1	0	1	0	0	0	0	15571	1667	58	0	273	0	SYT2	1	202568405	In_Frame_Del	DEL	TCT	TCGA-S9-A7QZ-01A-12D-A34J-08	1557770	202568405	46682216	11	55609											
INTS7	25896	broad.mit.edu	37	chr1	212118272	212118272	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggttattctggacagcaaTgggctctgcaggattccggg	7	11	14	9	1	2	0	0	0	2	0	3	2	3	2	1	5	2	4	1	5	2	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:212118272T>A	ENST00000366994.3	-	19	2559	c.2455A>T	c.(2455-2457)Att>Ttt	p.I819F	INTS7_ENST00000366993.3_Missense_Mutation_p.I805F|INTS7_ENST00000440600.2_Missense_Mutation_p.I770F|INTS7_ENST00000366992.3_Missense_Mutation_p.I799F|INTS7_ENST00000469606.1_5'UTR	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	819					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		TGGACAGCAATGGGCTCTGCA	0.507													A	212118272	T	A	212118272	3	1	731	1	0	0	0	0	1	0	0	0	7841	1464	51	5	441	5	INTS7	1	212118272	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	9549867	212118272	37132349	12	55610											
ZP4	57829	broad.mit.edu	37	chr1	238050813	238050813	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggtggcgaggtcacgttcCgagacacagcaatagagaaa	13	6	14	8	3	1	2	1	0	0	2	2	5	2	2	1	3	1	2	1	3	3	2	rs141095443	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr1:238050813C>T	ENST00000366570.4	-	5	760	c.602G>A	c.(601-603)cGg>cAg	p.R201Q	RP11-193H5.1_ENST00000450451.1_RNA	NM_021186.3	NP_067009.1	Q12836	ZP4_HUMAN	zona pellucida glycoprotein 4	201	ZP.				acrosomal vesicle exocytosis|negative regulation of binding of sperm to zona pellucida|positive regulation of acrosome reaction|positive regulation of humoral immune response|positive regulation of protein kinase activity|positive regulation of T cell proliferation|protein kinase A signaling cascade|protein kinase C signaling cascade	integral to membrane|intracellular|plasma membrane|proteinaceous extracellular matrix	acrosin binding|receptor activity			breast(6)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(42)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	73	Ovarian(103;0.103)	all_cancers(173;0.00175)|all_epithelial(177;0.162)|all_neural(198;0.164)|Melanoma(53;0.211)|Prostate(94;0.214)	OV - Ovarian serous cystadenocarcinoma(106;0.00989)			GGTCACGTTCCGAGACACAGC	0.532													T	238050813	C	T	238050813	3	4	731	1	0	0	0	0	1	0	0	0	18317	652	23	1	1052	1	ZP4	1	238050813	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	25932541	238050813	11199808	13	55611											
SLC4A5	57835	broad.mit.edu	37	chr2	74477594	74477594	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccatcatagaagtcacttGggaaccagggcaacttcctc	12	8	9	12	0	2	1	2	0	0	1	4	2	3	2	3	2	3	1	3	2	4	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:74477594G>A	ENST00000394019.2	-	17	1926	c.1529C>T	c.(1528-1530)cCa>cTa	p.P510L	SLC4A5_ENST00000359484.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000377634.4_Missense_Mutation_p.P510L|SLC4A5_ENST00000358683.4_Missense_Mutation_p.P446L|SLC4A5_ENST00000483195.1_5'UTR|SLC4A5_ENST00000423644.1_Missense_Mutation_p.P510L|RP11-287D1.3_ENST00000451608.2_3'UTR|SLC4A5_ENST00000377632.1_Missense_Mutation_p.P510L|SLC4A5_ENST00000346834.4_Missense_Mutation_p.P510L|SLC4A5_ENST00000357822.5_Missense_Mutation_p.P510L	NM_133478.2	NP_597812.1	Q9BY07	S4A5_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 5	510						apical plasma membrane|integral to membrane	inorganic anion exchanger activity|sodium:bicarbonate symporter activity			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(12)|lung(13)|ovary(5)|pancreas(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	48						GAAGTCACTTGGGAACCAGGG	0.527											OREG0014716	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	74477594	G	A	74477594	3	1	731	1	0	0	0	0	1	0	0	0	14751	1348	47	2	1944	2	SLC4A5	2	74477594	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		74477594	168721779	14	55612											
SLC20A1	6574	broad.mit.edu	37	chr2	113418740	113418740	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcagtattgaactggcAtctgccctcactgtggtgat	7	13	11	10	0	3	2	2	2	1	0	3	2	3	2	1	3	2	3	1	3	2	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:113418740A>G	ENST00000272542.3	+	10	2354	c.1815A>G	c.(1813-1815)gcA>gcG	p.A605A		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	605					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						TTGAACTGGCATCTGCCCTCA	0.403													G	113418740	A	G	113418740	2	3	731	1	0	0	0	0	0	0	0	1	14532	204	8	3		3	SLC20A1	2	113418740	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	38941146	113418740	129780633	15	55613											
ANKAR	150709	broad.mit.edu	37	chr2	190541787	190541788	+	Frame_Shift_Del	DEL	AA	AA	-																															atggaaaacctcaaacaaatAaagacattttttcagagttt																								rs141582205	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:190541787_190541788delAA	ENST00000520309.1	+	2	659_660	c.571_572delAA	c.(571-573)aaafs	p.K191fs	ANKAR_ENST00000313581.4_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000431575.2_Frame_Shift_Del_p.K120fs|ANKAR_ENST00000438402.2_Frame_Shift_Del_p.K191fs|ANKAR_ENST00000461516.1_Intron|ANKAR_ENST00000281412.6_5'UTR	NM_144708.3	NP_653309.3	Q7Z5J8	ANKAR_HUMAN	ankyrin and armadillo repeat containing	191						integral to membrane	binding			breast(3)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(16)|ovary(2)|pancreas(1)|skin(1)|urinary_tract(2)	46			OV - Ovarian serous cystadenocarcinoma(117;0.00156)|Epithelial(96;0.0256)|all cancers(119;0.0744)			TCAAACAAATAAAGACATTTTT	0.351													-	190541788	AA	-	190541787	7	5	731	1	0	1	0	1	0	0	0	0	623	363	13	0	573	0	ANKAR	2	190541787	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08	77123047	190541787	52657586	16	55614											
MDH1B	130752	broad.mit.edu	37	chr2	207621661	207621661	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggttgatgcaagttttcAgggcttcttcctcctgctct	5	15	11	10	0	3	1	1	1	2	0	5	1	5	1	2	3	2	5	2	3	1	5			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:207621661A>G	ENST00000374412.3	-	4	649	c.374T>C	c.(373-375)cTg>cCg	p.L125P	MDH1B_ENST00000392214.2_Missense_Mutation_p.L125P|MDH1B_ENST00000449792.1_Missense_Mutation_p.L27P|MDH1B_ENST00000454776.2_Missense_Mutation_p.L125P	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	125					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		GCAAGTTTTCAGGGCTTCTTC	0.428													G	207621661	A	G	207621661	3	3	731	1	0	0	0	0	1	0	0	0	9484	188	7	3	1218	3	MDH1B	2	207621661	Missense_Mutation	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	17079874	207621661	35577712	17	55615											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	731	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1491451	209113112	34086261	18	55616											
COL6A3	1293	broad.mit.edu	37	chr2	238280668	238280668	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgggacgccctcttcaatgCggctccccaggggcctcttg	4	8	13	16	3	3	0	1	0	2	0	4	1	4	1	4	4	1	1	4	4	1	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr2:238280668C>T	ENST00000295550.4	-	9	4444	c.3992G>A	c.(3991-3993)cGc>cAc	p.R1331H	COL6A3_ENST00000347401.3_Missense_Mutation_p.R1130H|COL6A3_ENST00000472056.1_Missense_Mutation_p.R724H|COL6A3_ENST00000346358.4_Missense_Mutation_p.R1131H|COL6A3_ENST00000409809.1_Missense_Mutation_p.R1125H|COL6A3_ENST00000392003.2_Missense_Mutation_p.R924H|COL6A3_ENST00000353578.4_Missense_Mutation_p.R1125H|COL6A3_ENST00000392004.3_Missense_Mutation_p.R1125H	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1331	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CTCTTCAATGCGGCTCCCCAG	0.632													T	238280668	C	T	238280668	3	4	731	1	0	0	0	0	1	0	0	0	3732	768	27	1	5732	1	COL6A3	2	238280668	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	29167556	238280668	4918705	19	55617											
COL7A1	1294	broad.mit.edu	37	chr3	48602392	48602392	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcagtgcaggagccctcaTccagtggcagggaacagggg	10	4	17	10	0	1	0	1	0	0	0	2	2	2	2	2	6	3	3	2	6	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:48602392T>C	ENST00000328333.8	-	117	8749	c.8642A>G	c.(8641-8643)gAt>gGt	p.D2881G	COL7A1_ENST00000470076.1_5'UTR|COL7A1_ENST00000454817.1_Missense_Mutation_p.D2849G	NM_000094.3	NP_000085.1	Q02388	CO7A1_HUMAN	collagen, type VII, alpha 1	2881	BPTI/Kunitz inhibitor.|Nonhelical region (NC2).				cell adhesion|epidermis development	basement membrane|collagen type VII	protein binding|serine-type endopeptidase inhibitor activity			NS(3)|breast(8)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(57)|ovary(7)|prostate(5)|skin(9)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	137				BRCA - Breast invasive adenocarcinoma(193;0.000293)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		GGAGCCCTCATCCAGTGGCAG	0.612													C	48602392	T	C	48602392	3	2	731	1	0	0	0	0	1	0	0	0	3735	1435	50	3	200	3	COL7A1	3	48602392	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		48602392	149420038	20	55618											
ARL6	84100	broad.mit.edu	37	chr3	97486990	97486992	+	In_Frame_Del	DEL	GAA	GAA	-																															ctttcagtcttgcttggcctGaagaagaaggaggttcatgt																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:97486990_97486992delGAA	ENST00000463745.1	+	2	516_518	c.39_41delGAA	c.(37-42)ctgaag>ctg	p.K16del	ARL6_ENST00000394206.1_In_Frame_Del_p.K16del|ARL6_ENST00000335979.2_In_Frame_Del_p.K16del|ARL6_ENST00000496713.1_3'UTR	NM_001278293.1	NP_001265222.1	Q9H0F7	ARL6_HUMAN	ADP-ribosylation factor-like 6	16					cilium assembly|determination of left/right symmetry|melanosome transport|protein polymerization|protein targeting to membrane|small GTPase mediated signal transduction|visual perception|Wnt receptor signaling pathway	axonemal microtubule|cilium axoneme|cilium membrane|membrane coat|microtubule basal body	GTP binding|metal ion binding|phospholipid binding|protein binding			large_intestine(1)|lung(4)	5		Lung NSC(201;0.0193)|Prostate(884;0.174)		LUSC - Lung squamous cell carcinoma(29;0.0118)|Lung(72;0.0189)		TGCTTGGCCTGAAGAAGAAGGAG	0.35													-	97486992	GAA	-	97486990	7	5	731	1	0	1	0	1	0	0	0	0	946	1277	45	0	41	0	ARL6	3	97486990	In_Frame_Del	DEL	GAA	TCGA-S9-A7QZ-01A-12D-A34J-08	48884598	97486990	100535440	21	55619											
DIRC2	84925	broad.mit.edu	37	chr3	122578991	122578991	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttcgggagctacactgtcAtccacgtggttcaccctgac	7	12	9	13	2	2	1	2	1	0	0	4	2	3	2	2	2	2	2	2	2	1	4			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:122578991A>G	ENST00000261038.5	+	7	1478	c.1080A>G	c.(1078-1080)tcA>tcG	p.S360S		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	360					transport	integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		CTACACTGTCATCCACGTGGT	0.378													G	122578991	A	G	122578991	2	3	731	1	0	0	0	0	0	0	0	1	4573	204	8	3		3	DIRC2	3	122578991	Silent	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	25092001	122578991	75443439	22	55620											
ATR	545	broad.mit.edu	37	chr3	142281276	142281276	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacatgacacagagttttTccagcagcatatttaaatag	16	11	6	8	0	0	2	0	1	0	1	1	2	1	2	1	0	3	3	1	0	5	6			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:142281276T>C	ENST00000350721.4	-	4	1089	c.968A>G	c.(967-969)gAa>gGa	p.E323G	ATR_ENST00000383101.3_Missense_Mutation_p.E323G	NM_001184.3	NP_001175.2	Q13535	ATR_HUMAN	ataxia telangiectasia and Rad3 related	323					cell cycle|cellular response to gamma radiation|cellular response to UV|DNA damage checkpoint|DNA repair|DNA replication|multicellular organismal development|negative regulation of DNA replication|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|protein autophosphorylation|replicative senescence	PML body	ATP binding|DNA binding|MutLalpha complex binding|MutSalpha complex binding|protein serine/threonine kinase activity			NS(1)|breast(10)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|liver(2)|lung(45)|ovary(3)|skin(10)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(4)	122						ACAGAGTTTTTCCAGCAGCAT	0.368								Other conserved DNA damage response genes					C	142281276	T	C	142281276	3	2	731	1	0	0	0	0	1	0	0	0	1209	1783	62	3	7142	3	ATR	3	142281276	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	19702285	142281276	55741154	23	55621											
THPO	7066	broad.mit.edu	37	chr3	184093747	184093747	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaggtcacaagcaggaggagCcgggctggacagcgttagcc	10	4	17	10	2	1	0	1	0	0	0	1	4	1	3	2	5	4	3	2	5	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:184093747C>T	ENST00000204615.7	-	3	284	c.70G>A	c.(70-72)Gct>Act	p.A24T	THPO_ENST00000445696.2_Missense_Mutation_p.A24T|THPO_ENST00000421442.2_Missense_Mutation_p.A24T|EIF2B5_ENST00000444495.1_Intron	NM_000460.2|NM_001177597.1|NM_001177598.1	NP_000451.1|NP_001171068.1|NP_001171069.1	P40225	TPO_HUMAN	thrombopoietin	24					cell proliferation|platelet activation	extracellular space	cytokine activity|growth factor activity|hormone activity			NS(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)	16	all_cancers(143;6.33e-11)|Ovarian(172;0.0339)		Epithelial(37;4.96e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			GCAGGAGGAGCCGGGCTGGAC	0.507													T	184093747	C	T	184093747	3	4	731	1	0	0	0	0	1	0	0	0	15972	739	26	2	1007	2	THPO	3	184093747	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	41812471	184093747	13928683	24	55622											
ATP13A5	344905	broad.mit.edu	37	chr3	193002701	193002702	+	Splice_Site	DEL	AC	AC	-																															aaattaaactttatatacttAcagtttgtatagatgggttt																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:193002701_193002702delAC	ENST00000342358.4	-	27	3344		c.e27+1		ATP13A5_ENST00000495496.1_Splice_Site	NM_198505.2	NP_940907.2	Q4VNC0	AT135_HUMAN	ATPase type 13A5						ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(1)|autonomic_ganglia(2)|breast(1)|endometrium(6)|kidney(4)|large_intestine(15)|liver(2)|lung(26)|ovary(5)|prostate(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	76	all_cancers(143;1.08e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000307)		TTATATACTTACAGTTTGTATA	0.396													-	193002702	AC	-	193002701	8	5	731	1	0	1	0	1	0	0	1	0	1132	405	14	0	442	0	ATP13A5	3	193002701	Splice_Site	DEL	AC	TCGA-S9-A7QZ-01A-12D-A34J-08	8908954	193002701	5019729	25	55623											
GP5	2814	broad.mit.edu	37	chr3	194117609	194117609	+	Frame_Shift_Del	DEL	C	C	-																															ggcccgggcactccgcgtcaCcccccggcagggcccagagc																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:194117609delC	ENST00000401815.1	-	1	1474	c.1403delG	c.(1402-1404)ggtfs	p.G468fs	GP5_ENST00000323007.3_Frame_Shift_Del_p.G468fs			P40197	GPV_HUMAN	glycoprotein V (platelet)	468	LRRCT.				blood coagulation, intrinsic pathway|cell adhesion|platelet activation	integral to plasma membrane				breast(3)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(14)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	35	all_cancers(143;6.64e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;7.38e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;4.06e-05)		CTCCGCGTCACCCCCCGGCAG	0.781													-	194117609	C	-	194117609	7	5	731	1	0	1	0	1	0	0	0	0	6637	507	18	0	283	0	GP5	3	194117609	Frame_Shift_Del	DEL	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1114908	194117609	3904821	26	55624											
TNK2	10188	broad.mit.edu	37	chr3	195605334	195605334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctccagcaggaagtcccGcagggccacaaacgtgggtc	10	4	12	15	2	0	0	0	0	0	0	3	1	2	1	4	3	2	2	4	3	2	0	rs141404332	by1000genomes	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr3:195605334G>A	ENST00000333602.6	-	8	1761	c.1144C>T	c.(1144-1146)Cgg>Tgg	p.R382W	TNK2_ENST00000428187.1_Missense_Mutation_p.R414W|TNK2_ENST00000316664.3_Missense_Mutation_p.R382W|TNK2_ENST00000392400.1_Missense_Mutation_p.R382W|TNK2_ENST00000381916.2_Missense_Mutation_p.R445W	NM_005781.4	NP_005772.3	Q07912	ACK1_HUMAN	tyrosine kinase, non-receptor, 2	382	Protein kinase.			Missing (in Ref. 4; AAH08884).	positive regulation of peptidyl-tyrosine phosphorylation|protein ubiquitination|small GTPase mediated signal transduction	adherens junction|cytoplasmic vesicle membrane|endosome|nucleus	ATP binding|GTPase inhibitor activity|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	p.R445W(2)		central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|ovary(3)|prostate(4)|skin(2)|stomach(1)|urinary_tract(1)	29	all_cancers(143;6.48e-09)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;1.46e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.3e-19)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;0.000757)	Adenosine triphosphate(DB00171)	AGGAAGTCCCGCAGGGCCACA	0.652													A	195605334	G	A	195605334	3	1	731	1	0	0	0	0	1	0	0	0	16418	1086	38	1	2053	1	TNK2	3	195605334	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	1487725	195605334	2417096	27	55625											
UGT2B17	7367	broad.mit.edu	37	chr4	69403357	69403357	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atataactaatcccttttctTcttctttcctgttttggcaa	8	20	3	10	0	3	0	0	0	3	0	5	0	5	0	2	1	1	2	2	1	4	10			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69403357T>A	ENST00000317746.2	-	6	1621	c.1579A>T	c.(1579-1581)Aag>Tag	p.K527*		NM_001077.3	NP_001068.1	O75795	UDB17_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B17	527					steroid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(14)|ovary(2)|prostate(1)	30						TCCCTTTTCTTCTTCTTTCCT	0.408													A	69403357	T	A	69403357	4	1	731	1	0	0	0	0	0	1	0	0	17061	1792	62	5	17	5	UGT2B17	4	69403357	Nonsense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		69403357	121750919	28	55626											
UGT2A3	79799	broad.mit.edu	37	chr4	69795658	69795658	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcacatctatagagtagTgctggaaccaggtgaggtca	13	9	11	8	0	3	2	2	1	1	1	3	3	3	3	1	3	2	2	1	3	5	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:69795658T>G	ENST00000251566.4	-	6	1487	c.1457A>C	c.(1456-1458)cAc>cCc	p.H486P	UGT2A3_ENST00000420231.2_Missense_Mutation_p.H197P	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	486						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TATAGAGTAGTGCTGGAACCA	0.453													G	69795658	T	G	69795658	3	3	731	1	0	0	0	0	1	0	0	0	17057	1696	59	5	130	5	UGT2A3	4	69795658	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	392301	69795658	121358618	29	55627											
ADH1A	124	broad.mit.edu	37	chr4	100208068	100208068	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccggctgcctcatggccTaaaatcacaggaagtggggt	10	8	13	10	1	2	0	2	0	0	0	2	1	2	1	3	5	2	1	3	5	3	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:100208068T>C	ENST00000209668.2	-	3	311	c.198A>G	c.(196-198)ttA>ttG	p.L66L	RP11-696N14.1_ENST00000500358.2_RNA|ADH1A_ENST00000511656.1_5'UTR	NM_000667.3	NP_000658.1	P07327	ADH1A_HUMAN	alcohol dehydrogenase 1A (class I), alpha polypeptide	66					ethanol oxidation|transcription, DNA-dependent|xenobiotic metabolic process	cytosol	alcohol dehydrogenase activity, zinc-dependent|protein binding|zinc ion binding			endometrium(2)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|prostate(1)|skin(4)|stomach(1)	25				OV - Ovarian serous cystadenocarcinoma(123;9.56e-08)	Fomepizole(DB01213)|NADH(DB00157)	CCTCATGGCCTAAAATCACAG	0.498													C	100208068	T	C	100208068	2	2	731	1	0	0	0	0	0	0	0	1	307	1519	53	3		3	ADH1A	4	100208068	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	30412410	100208068	90946208	30	55628											
CENPE	1062	broad.mit.edu	37	chr4	104066385	104066385	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tactttgtagtgctgaatccTtggctttgcgatgctccttg	5	17	10	9	1	0	1	0	1	0	0	2	2	2	1	2	1	4	4	2	1	3	6			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr4:104066385T>C	ENST00000265148.3	-	32	4768	c.4679A>G	c.(4678-4680)aAg>aGg	p.K1560R	CENPE_ENST00000380026.3_Missense_Mutation_p.K1535R	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1560					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TGCTGAATCCTTGGCTTTGCG	0.333													C	104066385	T	C	104066385	3	2	731	1	0	0	0	0	1	0	0	0	3260	1609	56	3	3498	3	CENPE	4	104066385	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	3858317	104066385	87087891	31	55629											
GHR	2690	broad.mit.edu	37	chr5	42718951	42718951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactcagcagcccagtGttatccaagcagagaaaaac	14	7	8	12	0	1	1	1	0	0	1	2	2	2	1	2	0	6	4	2	0	5	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:42718951G>A	ENST00000230882.4	+	10	1532	c.1342G>A	c.(1342-1344)Gtt>Att	p.V448I	GHR_ENST00000357703.3_Missense_Mutation_p.V426I|GHR_ENST00000537449.1_Missense_Mutation_p.V261I	NM_000163.4|NM_001242399.2|NM_001242400.2|NM_001242401.3|NM_001242402.2|NM_001242403.2|NM_001242404.2|NM_001242405.2|NM_001242406.2	NP_000154.1|NP_001229328.1|NP_001229329.1|NP_001229330.1|NP_001229331.1|NP_001229332.1|NP_001229333.1|NP_001229334.1|NP_001229335.1	P10912	GHR_HUMAN	growth hormone receptor	448					2-oxoglutarate metabolic process|activation of JAK2 kinase activity|activation of MAPK activity|allantoin metabolic process|citrate metabolic process|creatine metabolic process|creatinine metabolic process|endocytosis|fatty acid metabolic process|growth hormone receptor signaling pathway|insulin-like growth factor receptor signaling pathway|isoleucine metabolic process|JAK-STAT cascade|multicellular organismal metabolic process|oxaloacetate metabolic process|positive regulation of multicellular organism growth|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|receptor internalization|response to cycloheximide|response to estradiol stimulus|succinate metabolic process|taurine metabolic process|valine metabolic process	cell surface|extracellular space|growth hormone receptor complex|integral to plasma membrane	growth factor binding|peptide hormone binding|proline-rich region binding|protein homodimerization activity|protein kinase binding			NS(2)|endometrium(2)|kidney(3)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39		Myeloproliferative disorder(839;0.00878)			Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GCAGCCCAGTGTTATCCAAGC	0.448													A	42718951	G	A	42718951	3	1	731	1	0	0	0	0	1	0	0	0	6427	1377	48	2	1376	2	GHR	5	42718951	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		42718951	138196309	32	55630											
RIOK2	55781	broad.mit.edu	37	chr5	96503256	96503258	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcgtcagagccagcagggaCtcctccttgaactctctgac																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:96503256_96503258delCTC	ENST00000283109.3	-	8	1378_1380	c.1310_1312delGAG	c.(1309-1314)ggagtc>gtc	p.G437del	RIOK2_ENST00000508447.1_In_Frame_Del_p.G437del|CTD-2215E18.1_ENST00000509481.1_Intron	NM_018343.2	NP_060813.2	Q9BVS4	RIOK2_HUMAN	RIO kinase 2	437	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|urinary_tract(2)	23		all_cancers(142;0.000125)|all_epithelial(76;8.48e-07)|all_lung(232;0.0131)|Lung NSC(167;0.0161)|Colorectal(57;0.0676)|Ovarian(225;0.105)		COAD - Colon adenocarcinoma(37;0.0657)		CCAGCAGGGACTCCTCCTTGAAC	0.419													-	96503258	CTC	-	96503256	7	5	731	1	0	1	0	1	0	0	0	0	13469	565	20	0	386	0	RIOK2	5	96503256	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08	53784305	96503256	84412004	33	55631											
PCDHB13	56123	broad.mit.edu	37	chr5	140595357	140595359	+	In_Frame_Del	DEL	CAA	CAA	-																															cgcgtggtggtgctggacgcCaacgacaactcgcccttcgt																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr5:140595357_140595359delCAA	ENST00000341948.4	+	1	1849_1851	c.1662_1664delCAA	c.(1660-1665)gccaac>gcc	p.N555del		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN		555	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TGCTGGACGCCAACGACAACTCG	0.719													-	140595359	CAA	-	140595357	7	5	731	1	0	1	0	1	0	0	0	0	11614	581	21	0	1664	0	PCDHB13	5	140595357	In_Frame_Del	DEL	CAA	TCGA-S9-A7QZ-01A-12D-A34J-08	44092101	140595357	40319903	34	55632											
ZNF311	282890	broad.mit.edu	37	chr6	28963010	28963010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgagccctgacggaaggacGtgccacactcactgcaggtg	9	6	13	13	2	1	2	1	2	0	0	1	4	1	4	2	3	3	1	2	3	1	0	rs75164486	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:28963010G>A	ENST00000377179.3	-	7	2281	c.1769C>T	c.(1768-1770)aCg>aTg	p.T590M	ZNF311_ENST00000483450.1_5'UTR	NM_001010877.2	NP_001010877.2	Q5JNZ3	ZN311_HUMAN	zinc finger protein 311	590					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(2)	28						ACGGAAGGACGTGCCACACTC	0.488													A	28963010	G	A	28963010	3	1	731	1	0	0	0	0	1	0	0	0	17935	1145	40	1	235	1	ZNF311	6	28963010	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		28963010	142152057	35	55633											
ABCC10	89845	broad.mit.edu	37	chr6	43415432	43415432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accccaccagctgggcaccgGctggctgacccaggggggcg	6	3	16	16	2	0	1	0	1	0	0	0	1	0	1	5	6	1	4	5	6	0	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:43415432G>A	ENST00000244533.3	+	16	3991	c.3632G>A	c.(3631-3633)gGc>gAc	p.G1211D	ABCC10_ENST00000372530.4_Missense_Mutation_p.G1239D	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	1239						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			CTGGGCACCGGCTGGCTGACC	0.632													A	43415432	G	A	43415432	3	1	731	1	0	0	0	0	1	0	0	0	50	1203	42	2	3694	2	ABCC10	6	43415432	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	14452422	43415432	127699635	36	55634											
PKHD1	5314	broad.mit.edu	37	chr6	51824709	51824709	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgcttgtgttagtgtccAgcagaagcaattggccattc	9	12	12	8	0	0	1	0	0	0	1	2	2	1	2	2	2	3	4	2	2	3	4			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:51824709A>T	ENST00000371117.3	-	36	6142	c.5867T>A	c.(5866-5868)cTg>cAg	p.L1956Q	PKHD1_ENST00000340994.4_Missense_Mutation_p.L1956Q	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1956	G8 1.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					GTTAGTGTCCAGCAGAAGCAA	0.458											OREG0017492	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	51824709	A	T	51824709	3	4	731	1	0	0	0	0	1	0	0	0	12048	188	7	5	6524	5	PKHD1	6	51824709	Missense_Mutation	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	8409277	51824709	119290358	37	55635											
GSTA3	2940	broad.mit.edu	37	chr6	52764820	52764822	+	In_Frame_Del	DEL	AGA	AGA	-																															cctcaggtcgacataagggcAgaagaaggatcatttcattc																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:52764820_52764822delAGA	ENST00000211122.3	-	5	389_391	c.324_326delTCT	c.(322-327)cttctg>ctg	p.108_109LL>L	GSTA3_ENST00000370968.1_In_Frame_Del_p.58_59LL>L	NM_000847.4	NP_000838.3	Q16772	GSTA3_HUMAN	glutathione S-transferase alpha 3	108	GST C-terminal.				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)	10	Lung NSC(77;0.0912)				Glutathione(DB00143)	ACATAAGGGCAGAAGAAGGATCA	0.389													-	52764822	AGA	-	52764820	7	5	731	1	0	1	0	1	0	0	0	0	6887	188	7	0	354	0	GSTA3	6	52764820	In_Frame_Del	DEL	AGA	TCGA-S9-A7QZ-01A-12D-A34J-08	940111	52764820	118350247	38	55636											
COL12A1	1303	broad.mit.edu	37	chr6	75875253	75875255	+	In_Frame_Del	DEL	CTC	CTC	-																															ggcatctccagtcaaaggttCtccttctccactgctgtaag																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr6:75875253_75875255delCTC	ENST00000322507.8	-	14	3260_3262	c.2951_2953delGAG	c.(2950-2955)ggagaa>gaa	p.G984del	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000416123.2_In_Frame_Del_p.G984del|COL12A1_ENST00000483888.2_In_Frame_Del_p.G984del	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	984	Fibronectin type-III 6.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						GTCAAAGGTTCTCCTTCTCCACT	0.429													-	75875255	CTC	-	75875253	7	5	731	1	0	1	0	1	0	0	0	0	3700	922	32	0	6450	0	COL12A1	6	75875253	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08	23110433	75875253	95239814	39	55637											
OGDH	4967	broad.mit.edu	37	chr7	44737090	44737090	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcactgtctgagtacggcGtgctgggtgagtgcctggag	5	10	17	9	2	2	2	1	2	1	0	2	3	2	3	1	3	3	3	1	3	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:44737090G>A	ENST00000222673.5	+	16	2215	c.2173G>A	c.(2173-2175)Gtg>Atg	p.V725M	OGDH_ENST00000447398.1_Missense_Mutation_p.V736M|OGDH_ENST00000543843.1_Missense_Mutation_p.V676M|OGDH_ENST00000439616.2_Missense_Mutation_p.V575M|OGDH_ENST00000449767.1_Missense_Mutation_p.V721M|OGDH_ENST00000444676.1_Missense_Mutation_p.V740M	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	725					glycolysis|lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|mitochondrial membrane	oxoglutarate dehydrogenase (succinyl-transferring) activity|thiamine pyrophosphate binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					NADH(DB00157)	TGAGTACGGCGTGCTGGGTGA	0.592													A	44737090	G	A	44737090	3	1	731	1	0	0	0	0	1	0	0	0	10915	1145	40	1	2404	1	OGDH	7	44737090	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		44737090	114401573	40	55638											
DLX6	1750	broad.mit.edu	37	chr7	96635420	96635421	+	In_Frame_Ins	INS	-	-	GCC																															cagcagcagcaacagcaacaINSgccgccgccgccgccgccgc																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:96635420_96635421insGCC	ENST00000518156.2	+	1	561_562	c.131_132insGCC	c.(130-135)cagccg>caGCCgccg	p.53_54insP	DLX6-AS1_ENST00000452769.2_RNA|DLX6-AS1_ENST00000437541.1_RNA|DLX6-AS1_ENST00000437331.2_RNA|DLX6-AS1_ENST00000430404.2_RNA|DLX6-AS1_ENST00000430027.3_RNA|DLX6-AS1_ENST00000458352.2_RNA|DLX6_ENST00000007660.5_Intron|DLX6-AS1_ENST00000605417.1_RNA			P56179	DLX6_HUMAN	distal-less homeobox 6	0					nervous system development|skeletal system development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(1)|liver(2)|lung(4)|ovary(2)|urinary_tract(1)	12	all_cancers(62;9.56e-09)|all_epithelial(64;7.38e-09)|Esophageal squamous(72;0.0125)|all_lung(186;0.0855)|Lung NSC(181;0.0858)					caacagcaacagccgccgccgc	0.698													GCC	96635421	-	GCC	96635420	7	5	731	1	0	1	1	0	0	0	0	0	4614	188	7	0	133	0	DLX6	7	96635420	In_Frame_Ins	INS	-	TCGA-S9-A7QZ-01A-12D-A34J-08	51898330	96635420	62503243	41	55639											
RELN	5649	broad.mit.edu	37	chr7	103216050	103216050	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagtccccatggccactGcagtaactgggacaaggctc	10	7	11	13	0	0	0	0	0	0	0	2	1	1	1	3	3	3	4	3	3	2	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:103216050G>A	ENST00000424685.2	-	29	4407	c.4248C>T	c.(4246-4248)tgC>tgT	p.C1416C	RELN_ENST00000343529.5_Silent_p.C1416C|RELN_ENST00000428762.1_Silent_p.C1416C			P78509	RELN_HUMAN	reelin	1416	EGF-like 3.				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATGGCCACTGCAGTAACTGG	0.463													A	103216050	G	A	103216050	2	1	731	1	0	0	0	0	0	0	0	1	13308	1311	46	2		2	RELN	7	103216050	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	6580630	103216050	55922613	42	55640											
SSPO	23145	broad.mit.edu	37	chr7	149473220	149473222	+	RNA	DEL	CTT	CTT	-																															cccctctgacaagggtcctcCttctgccgcatgcccaggga																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr7:149473220_149473222delCTT	ENST00000378016.2	+	0	50							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AAGGGTCCTCCTTCTGCCGCATG	0.675													-	149473222	CTT	-	149473220	6	5	731	0	1	1	0	1	0	0	0	0	15285	696	24	0		0	SSPO	7	149473220	RNA	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	46257170	149473220	9665443	43	55641											
STC1	6781	broad.mit.edu	37	chr8	23702537	23702537	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattccagcaggcttcggaCaagtctgttatagtatctgc	10	12	9	10	1	2	0	0	0	2	0	4	1	3	1	1	2	2	4	1	2	4	5			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:23702537C>A	ENST00000290271.2	-	4	773	c.490G>T	c.(490-492)Gtc>Ttc	p.V164F	STC1_ENST00000524323.1_Missense_Mutation_p.V95F	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	164					cell surface receptor linked signaling pathway|cell-cell signaling|cellular calcium ion homeostasis		hormone activity	p.V164L(1)		breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		AGGCTTCGGACAAGTCTGTTA	0.522													A	23702537	C	A	23702537	3	1	731	1	0	0	0	0	1	0	0	0	15371	478	17	4	257	4	STC1	8	23702537	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		23702537	122661485	44	55642											
PRKDC	5591	broad.mit.edu	37	chr8	48852241	48852241	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgcatttctgcatttttcGccaccatattagaaacctgc	10	15	5	11	1	1	1	0	0	1	1	2	1	1	1	3	0	4	2	3	0	4	6			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:48852241G>A	ENST00000314191.2	-	11	1039	c.983C>T	c.(982-984)gCg>gTg	p.A328V	PRKDC_ENST00000523565.1_5'UTR|PRKDC_ENST00000338368.3_Missense_Mutation_p.A328V	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	328					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGCATTTTTCGCCACCATATT	0.294								Non-homologous end-joining					A	48852241	G	A	48852241	3	1	731	1	0	0	0	0	1	0	0	0	12607	1087	38	1	11706	1	PRKDC	8	48852241	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	25149704	48852241	97511781	45	55643											
PDE7A	5150	broad.mit.edu	37	chr8	66695041	66695041	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatacgaatgtataatgcaGtctgatcagaactgtcatag	14	11	9	7	1	3	2	2	1	1	1	3	3	3	2	0	0	3	3	0	0	6	4	rs61736484	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:66695041G>A	ENST00000401827.3	-	2	619	c.176C>T	c.(175-177)aCt>aTt	p.T59I	PDE7A_ENST00000396642.3_Missense_Mutation_p.T59I|PDE7A_ENST00000379419.4_Missense_Mutation_p.T33I	NM_001242318.2	NP_001229247.1	Q13946	PDE7A_HUMAN	phosphodiesterase 7A	59						cell fraction|cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			large_intestine(5)|lung(3)|stomach(1)|urinary_tract(1)	10			Epithelial(68;0.0509)|BRCA - Breast invasive adenocarcinoma(89;0.111)|all cancers(69;0.168)|OV - Ovarian serous cystadenocarcinoma(28;0.238)		Dyphylline(DB00651)|Ketotifen(DB00920)	GTATAATGCAGTCTGATCAGA	0.289													A	66695041	G	A	66695041	3	1	731	1	0	0	0	0	1	0	0	0	11727	1029	36	2	1352	2	PDE7A	8	66695041	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	17842800	66695041	79668981	46	55644											
PKHD1L1	93035	broad.mit.edu	37	chr8	110457474	110457474	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caacagttcagagcaatagaGgttaatgaaaacaacatcac	19	7	7	8	0	2	3	2	1	0	2	2	3	2	3	0	1	4	3	0	1	7	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:110457474G>C	ENST00000378402.5	+	38	5480	c.5376G>C	c.(5374-5376)gaG>gaC	p.E1792D		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	1792	IPT/TIG 10.				immune response	cytosol|extracellular space|integral to membrane	receptor activity			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GAGCAATAGAGGTTAATGAAA	0.423										HNSCC(38;0.096)			C	110457474	G	C	110457474	3	2	731	1	0	0	0	0	1	0	0	0	12049	991	35	4	5526	4	PKHD1L1	8	110457474	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	43762433	110457474	35906548	47	55645											
EFR3A	23167	broad.mit.edu	37	chr8	132968029	132968031	+	In_Frame_Del	DEL	CTT	CTT	-																															ttttagtcgcataggccctcCttcttctccttctgcaactg																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr8:132968029_132968031delCTT	ENST00000254624.5	+	7	878_880	c.653_655delCTT	c.(652-657)ccttct>cct	p.S220del	EFR3A_ENST00000334503.4_In_Frame_Del_p.S220del|EFR3A_ENST00000519656.1_In_Frame_Del_p.S184del	NM_015137.4	NP_055952.2	Q14156	EFR3A_HUMAN	EFR3 homolog A (S. cerevisiae)	220						plasma membrane	binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(14)|ovary(3)|skin(1)|stomach(2)	35	Esophageal squamous(12;0.00693)|Ovarian(258;0.00769)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000805)|LUAD - Lung adenocarcinoma(14;0.102)			ATAGGCCCTCCTTCTTCTCCTTC	0.355													-	132968031	CTT	-	132968029	7	5	731	1	0	1	0	1	0	0	0	0	4997	681	24	0	679	0	EFR3A	8	132968029	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	22510555	132968029	13395993	48	55646											
ZNF462	58499	broad.mit.edu	37	chr9	109692929	109692929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaatcacctccgaaagcacGtccagtatggcaatgtccca	12	7	8	14	2	1	0	1	0	0	0	4	1	4	0	4	1	1	4	4	1	4	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:109692929G>A	ENST00000277225.5	+	4	6260	c.5971G>A	c.(5971-5973)Gtc>Atc	p.V1991I	ZNF462_ENST00000497489.1_3'UTR|ZNF462_ENST00000457913.1_Missense_Mutation_p.V1991I|ZNF462_ENST00000441147.2_Missense_Mutation_p.V836I			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1991					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CCGAAAGCACGTCCAGTATGG	0.498													A	109692929	G	A	109692929	3	1	731	1	0	0	0	0	1	0	0	0	18027	1145	40	1	5981	1	ZNF462	9	109692929	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		109692929	31520502	49	55647											
AKNA	80709	broad.mit.edu	37	chr9	117106023	117106023	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgggccggcagtggggaCaggagactgtgccattgcct	8	8	16	9	1	0	1	0	0	0	1	0	3	0	2	3	5	2	1	3	5	1	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:117106023C>G	ENST00000307564.4	-	19	3883	c.3722G>C	c.(3721-3723)tGt>tCt	p.C1241S	AKNA_ENST00000374088.3_Missense_Mutation_p.C1241S|AKNA_ENST00000223791.3_Missense_Mutation_p.C701S|AKNA_ENST00000492875.1_5'UTR|AKNA_ENST00000374075.5_Missense_Mutation_p.C1160S|AKNA_ENST00000374079.4_Missense_Mutation_p.C186S	NM_030767.4	NP_110394.3	Q7Z591	AKNA_HUMAN	AT-hook transcription factor	1241					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(7)|liver(2)|lung(22)|ovary(4)|stomach(2)	51						GCAGTGGGGACAGGAGACTGT	0.587													G	117106023	C	G	117106023	3	3	731	1	0	0	0	0	1	0	0	0	463	478	17	4	613	4	AKNA	9	117106023	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	7413094	117106023	24107408	50	55648											
ZBTB34	403341	broad.mit.edu	37	chr9	129642336	129642336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctgaatatgagattcagataGagggagaccatgagcaagga	16	7	13	5	0	1	6	1	3	0	4	1	9	1	7	1	2	1	1	1	2	4	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:129642336G>A	ENST00000319119.4	+	2	743	c.658G>A	c.(658-660)Gag>Aag	p.E220K	ZBTB34_ENST00000373452.2_Missense_Mutation_p.E216K	NM_001099270.1	NP_001092740.1	Q8NCN2	ZBT34_HUMAN	zinc finger and BTB domain containing 34	216					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|large_intestine(2)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	12						GATTCAGATAGAGGGAGACCA	0.577													A	129642336	G	A	129642336	3	1	731	1	0	0	0	0	1	0	0	0	17638	943	33	2	648	2	ZBTB34	9	129642336	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	12536313	129642336	11571095	51	55649											
TTF1	7270	broad.mit.edu	37	chr9	135251350	135251350	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaagtactggaattacaggcGtgagccatgcatggcgcctg	11	8	13	9	2	0	1	0	1	0	0	0	2	0	2	2	3	4	2	2	3	4	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr9:135251350G>A	ENST00000334270.2	-	11	2709	c.2670C>T	c.(2668-2670)caC>caT	p.H890H	TTF1_ENST00000461970.1_5'UTR	NM_001205296.1|NM_007344.3	NP_001192225.1|NP_031370.2	Q15361	TTF1_HUMAN	transcription termination factor, RNA polymerase I	890					negative regulation of DNA replication|regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription	nucleolus|nucleoplasm	DNA binding			endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|ovary(2)|pancreas(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;4.25e-06)|Epithelial(140;9.09e-05)		aattacaggcgtgagccatgc	0.493													A	135251350	G	A	135251350	2	1	731	1	0	0	0	0	0	0	0	1	16820	1136	40	1		1	TTF1	9	135251350	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	5609014	135251350	5962081	52	55650											
CCDC3	83643	broad.mit.edu	37	chr10	12940560	12940562	+	In_Frame_Del	DEL	CTT	CTT	-																															tgccgcaaggacctcttgacCttcttcactcgctcccggag																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:12940560_12940562delCTT	ENST00000378839.1	-	7	1244_1246	c.292_294delAAG	c.(292-294)aagdel	p.K98del	CCDC3_ENST00000378825.3_In_Frame_Del_p.K223del	NM_001282658.1	NP_001269587.1	Q9BQI4	CCDC3_HUMAN	coiled-coil domain containing 3	223						endoplasmic reticulum|extracellular region				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(1)|prostate(2)	11		Ovarian(717;0.0822)	BRCA - Breast invasive adenocarcinoma(52;0.163)			ACCTCTTGACCTTCTTCACTCGC	0.631													-	12940562	CTT	-	12940560	7	5	731	1	0	1	0	1	0	0	0	0	2831	680	24	0	147	0	CCDC3	10	12940560	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08		12940560	122594187	53	55651											
CUBN	8029	broad.mit.edu	37	chr10	16989236	16989237	+	Frame_Shift_Del	DEL	AA	AA	-																															ccataaaaaaggatttacatAaaagacagctggagccggtt																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr10:16989236_16989237delAA	ENST00000377833.4	-	36	5404_5405	c.5339_5340delTT	c.(5338-5340)tttfs	p.F1780fs		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1780	CUB 12.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GGATTTACATAAAAGACAGCTG	0.446													-	16989237	AA	-	16989236	7	5	731	1	0	1	0	1	0	0	0	0	4084	359	13	0	5659	0	CUBN	10	16989236	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08	4048676	16989236	118545511	54	55652											
OR9G1	390174	broad.mit.edu	37	chr11	56468348	56468348	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcaatcatcaccaagaaaaCgttttcctttaacttctgcc	12	14	3	12	1	4	1	3	0	1	1	5	1	5	1	3	0	3	1	3	0	5	6			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:56468348C>T	ENST00000312153.1	+	1	485	c.485C>T	c.(484-486)aCg>aTg	p.T162M		NM_001005213.1	NP_001005213.1			olfactory receptor, family 9, subfamily G, member 1											breast(2)|kidney(1)|lung(25)|stomach(2)|upper_aerodigestive_tract(1)	31						ACCAAGAAAACGTTTTCCTTT	0.448													T	56468348	C	T	56468348	3	4	731	1	0	0	0	0	1	0	0	0	11326	536	19	1	487	1	OR9G1	11	56468348	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08		56468348	78538168	55	55653											
CTNND1	1500	broad.mit.edu	37	chr11	57564168	57564168	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtcgccactatgaagatggTtatccaggtggcagtgataa	12	10	12	7	1	0	3	0	2	0	1	2	3	1	3	2	3	0	2	2	3	4	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:57564168T>C	ENST00000524630.1	+	6	1173	c.660T>C	c.(658-660)ggT>ggC	p.G220G	CTNND1_ENST00000428599.2_Silent_p.G220G|CTNND1_ENST00000531014.1_Intron|CTNND1_ENST00000361391.6_Silent_p.G220G|CTNND1_ENST00000526772.1_Intron|CTNND1_ENST00000534579.1_Silent_p.G166G|CTNND1_ENST00000532844.1_Silent_p.G166G|CTNND1_ENST00000532463.1_Silent_p.G119G|CTNND1_ENST00000399039.4_Silent_p.G220G|CTNND1_ENST00000415361.2_Silent_p.G119G|CTNND1_ENST00000533667.1_Intron|CTNND1_ENST00000528232.1_Silent_p.G119G|CTNND1_ENST00000528621.1_Silent_p.G166G|CTNND1_ENST00000358694.6_Silent_p.G220G|CTNND1_ENST00000530094.1_Silent_p.G119G|CTNND1_ENST00000529986.1_Silent_p.G119G|CTNND1_ENST00000529526.1_Silent_p.G166G|CTNND1_ENST00000361796.4_Silent_p.G220G|CTNND1_ENST00000526357.1_Silent_p.G166G|CTNND1_ENST00000360682.6_Silent_p.G220G|CTNND1_ENST00000532649.1_Silent_p.G166G|CTNND1_ENST00000529919.1_Silent_p.G220G|CTNND1_ENST00000532245.1_Silent_p.G119G|CTNND1_ENST00000525902.1_Intron|CTNND1_ENST00000532787.1_Silent_p.G119G|CTNND1_ENST00000526938.1_Silent_p.G220G|CTNND1_ENST00000530748.1_Silent_p.G166G|CTNND1_ENST00000361332.4_Silent_p.G220G|CTNND1_ENST00000529873.1_Silent_p.G166G|CTNND1_ENST00000426142.2_Silent_p.G119G|CTNND1_ENST00000399050.4_Silent_p.G220G|CTNND1_ENST00000527467.1_Intron			O60716	CTND1_HUMAN	catenin (cadherin-associated protein), delta 1	220					adherens junction organization|cell junction assembly|negative regulation of canonical Wnt receptor signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent|Wnt receptor signaling pathway	cytosol|midbody|nucleus	cadherin binding|protein binding|receptor binding			breast(5)|endometrium(8)|kidney(4)|large_intestine(7)|liver(2)|lung(16)|ovary(1)|upper_aerodigestive_tract(2)	45		all_epithelial(135;0.155)				ATGAAGATGGTTATCCAGGTG	0.562													C	57564168	T	C	57564168	2	2	731	1	0	0	0	0	0	0	0	1	4052	1712	60	3		3	CTNND1	11	57564168	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	1095820	57564168	77442348	56	55654											
CCDC88B	283234	broad.mit.edu	37	chr11	64119066	64119068	+	In_Frame_Del	DEL	AGG	AGG	-																															gctgcagagccagcgggcgcAggagcacagcagccgcctgc																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr11:64119066_64119068delAGG	ENST00000356786.5	+	18	3121_3123	c.3077_3079delAGG	c.(3076-3081)caggag>cag	p.E1027del	CCDC88B_ENST00000301897.4_5'UTR|CCDC88B_ENST00000359902.2_In_Frame_Del_p.E179del|CCDC88B_ENST00000463837.1_3'UTR	NM_032251.5	NP_115627.6	A6NC98	CC88B_HUMAN	coiled-coil domain containing 88B	1027					microtubule cytoskeleton organization	cytoplasm	microtubule binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						CAGCGGGCGCAGGAGCACAGCAG	0.68													-	64119068	AGG	-	64119066	7	5	731	1	0	1	0	1	0	0	0	0	2892	188	7	0	3147	0	CCDC88B	11	64119066	In_Frame_Del	DEL	AGG	TCGA-S9-A7QZ-01A-12D-A34J-08	6554898	64119066	70887450	57	55655											
CAPZA3	93661	broad.mit.edu	37	chr12	18891211	18891211	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttgcaaccaaacatgacactTagcgtgctgagcaggaagga	14	7	11	9	1	0	2	0	2	0	0	0	4	0	4	1	2	6	3	1	2	4	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:18891211T>A	ENST00000317658.3	+	1	167	c.9T>A	c.(7-9)ctT>ctA	p.L3L		NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	3					actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				ACATGACACTTAGCGTGCTGA	0.443													A	18891211	T	A	18891211	2	1	731	1	0	0	0	0	0	0	0	1	2668	1741	61	5		5	CAPZA3	12	18891211	Silent	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08		18891211	114960684	58	55656											
ATF1	466	broad.mit.edu	37	chr12	51213443	51213445	+	In_Frame_Del	DEL	AAG	AAG	-																															ctgctcgagaatgtcgcagaAagaagaaagaatatgtgaaa																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:51213443_51213445delAAG	ENST00000262053.3	+	7	719_721	c.697_699delAAG	c.(697-699)aagdel	p.K235del	ATF1_ENST00000539132.1_In_Frame_Del_p.K100del	NM_005171.4	NP_005162.1	P18846	ATF1_HUMAN	activating transcription factor 1	235					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|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				EWSR1/ATF1(347)|FUS/ATF1(4)	breast(1)|large_intestine(1)|ovary(2)	4						ATGTCGCAGAAAGAAGAAAGAAT	0.305			T	"EWSR1, FUS"	"malignant melanoma of soft parts , angiomatoid fibrous histiocytoma "								-	51213445	AAG	-	51213443	7	5	731	1	0	1	0	1	0	0	0	0	1084	15	1	0	719	0	ATF1	12	51213443	In_Frame_Del	DEL	AAG	TCGA-S9-A7QZ-01A-12D-A34J-08	32322232	51213443	82638452	59	55657											
OR6C2	341416	broad.mit.edu	37	chr12	55846632	55846632	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattatcaccctagtttgtgTgattctgtcctacttgtaca	8	17	6	10	0	2	1	1	1	1	0	3	1	3	1	2	0	2	2	2	0	4	7			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:55846632T>C	ENST00000322678.1	+	1	635	c.635T>C	c.(634-636)gTg>gCg	p.V212A	RP11-110A12.2_ENST00000556750.1_RNA|RP11-110A12.2_ENST00000554049.1_RNA|RP11-110A12.2_ENST00000555138.1_RNA|RP11-110A12.2_ENST00000555146.1_RNA	NM_054105.1	NP_473446.1	Q9NZP2	OR6C2_HUMAN	olfactory receptor, family 6, subfamily C, member 2	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(5)|lung(8)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	23						CTAGTTTGTGTGATTCTGTCC	0.408													C	55846632	T	C	55846632	3	2	731	1	0	0	0	0	1	0	0	0	11267	1696	59	3	637	3	OR6C2	12	55846632	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	4633189	55846632	78005263	60	55658											
GLIPR1L1	256710	broad.mit.edu	37	chr12	75741494	75741494	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaatatttgtatgcaactaCggacctgcgtgagttatttt	10	15	9	7	2	0	1	0	1	0	0	0	2	0	2	1	1	4	4	1	1	6	7			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:75741494C>T	ENST00000312442.2	+	3	559	c.513C>T	c.(511-513)taC>taT	p.Y171Y	GLIPR1L1_ENST00000378695.4_Silent_p.Y171Y|CAPS2_ENST00000442339.2_Intron	NM_152779.2	NP_689992.1	Q6UWM5	GPRL1_HUMAN	GLI pathogenesis-related 1 like 1	171						extracellular region				endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10						TATGCAACTACGGACCTGCGT	0.358													T	75741494	C	T	75741494	2	4	731	1	0	0	0	0	0	0	0	1	6498	547	19	1		1	GLIPR1L1	12	75741494	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	19894862	75741494	58110401	61	55659											
CCDC41	51134	broad.mit.edu	37	chr12	94805603	94805603	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcttgagttcattttgtaacTttacatgttcattctgcaac	9	18	6	8	0	3	1	2	1	1	0	3	1	3	1	0	0	4	5	0	0	3	9			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr12:94805603T>A	ENST00000397809.5	-	4	743	c.194A>T	c.(193-195)aAg>aTg	p.K65M	CCDC41_ENST00000339839.5_Missense_Mutation_p.K65M|CCDC41_ENST00000547575.1_Missense_Mutation_p.K65M|CCDC41_ENST00000397807.2_Missense_Mutation_p.K32M	NM_016122.2	NP_057206.2	Q9Y592	CCD41_HUMAN	coiled-coil domain containing 41	57										breast(1)|central_nervous_system(3)|kidney(3)|large_intestine(8)|lung(8)|prostate(2)|skin(2)	27						ATTTTGTAACTTTACATGTTC	0.318													A	94805603	T	A	94805603	3	1	731	1	0	0	0	0	1	0	0	0	2840	1609	56	5	1967	5	CCDC41	12	94805603	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	19064109	94805603	39046292	62	55660											
PSME1	5720	broad.mit.edu	37	chr14	24606348	24606351	+	Splice_Site	DEL	ACAG	ACAG	-																															cctccacccccacctcacacAcagacagagaacctgctcgg																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:24606348_24606351delACAG	ENST00000382708.3	+	3	135		c.e3-1		PSME1_ENST00000206451.6_Splice_Site|PSME1_ENST00000559123.1_Splice_Site|PSME1_ENST00000470718.1_Splice_Site|PSME1_ENST00000561435.1_Splice_Site	NM_176783.1	NP_788955.1	Q06323	PSME1_HUMAN	proteasome (prosome, macropain) activator subunit 1 (PA28 alpha)						anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|proteasome activator complex				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11				GBM - Glioblastoma multiforme(265;0.00831)		CACCTCACACACAGACAGAGAACC	0.574													-	24606351	ACAG	-	24606348	8	5	731	1	0	1	0	1	0	0	1	0	12791	174	6	0		0	PSME1	14	24606348	Splice_Site	DEL	ACAG	TCGA-S9-A7QZ-01A-12D-A34J-08		24606348	82743192	63	55661											
DAAM1	23002	broad.mit.edu	37	chr14	59798010	59798010	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcctctgtgcctggatctctCcttcctcccccaccaccccc	3	11	4	23	0	2	0	0	0	2	0	7	1	6	1	9	1	1	0	9	1	0	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:59798010C>A	ENST00000395125.1	+	13	1667	c.1644C>A	c.(1642-1644)ctC>ctA	p.L548L	DAAM1_ENST00000360909.3_Silent_p.L548L|DAAM1_ENST00000351081.1_Silent_p.L548L	NM_014992.2	NP_055807.1	Q9Y4D1	DAAM1_HUMAN	dishevelled associated activator of morphogenesis 1	548	FH1.|Pro-rich.				actin cytoskeleton organization	cytoplasm|plasma membrane	actin binding|Rho GTPase binding			breast(3)|cervix(3)|endometrium(5)|kidney(5)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.165)		CTGGATCTCTCCTTCCTCCCC	0.637													A	59798010	C	A	59798010	2	1	731	1	0	0	0	0	0	0	0	1	4249	842	30	4		4	DAAM1	14	59798010	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	35191662	59798010	47551530	64	55662											
YLPM1	56252	broad.mit.edu	37	chr14	75265962	75265963	+	Frame_Shift_Del	DEL	CA	CA	-																															accactggatgaacaagaatCacagtttcgtgaacgggata																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr14:75265962_75265963delCA	ENST00000325680.7	+	5	4086_4087	c.3962_3963delCA	c.(3961-3963)tcafs	p.S1321fs	YLPM1_ENST00000238571.3_Frame_Shift_Del_p.S1126fs|YLPM1_ENST00000552421.1_Intron	NM_019589.2	NP_062535.2	P49750	YLPM1_HUMAN	YLP motif containing 1	1126					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck				breast(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(24)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	62			KIRC - Kidney renal clear cell carcinoma(43;0.238)	BRCA - Breast invasive adenocarcinoma(234;0.00162)		GAACAAGAATCACAGTTTCGTG	0.446													-	75265963	CA	-	75265962	7	5	731	1	0	1	0	1	0	0	0	0	17588	838	29	0	3980	0	YLPM1	14	75265962	Frame_Shift_Del	DEL	CA	TCGA-S9-A7QZ-01A-12D-A34J-08	15467952	75265962	32083578	65	55663											
RTF1	23168	broad.mit.edu	37	chr15	41749919	41749920	+	Frame_Shift_Del	DEL	AG	AG	-																															tcctcttccagttcagattcAgactcttcctcagaagatga																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:41749919_41749920delAG	ENST00000389629.4	+	4	519_520	c.507_508delAG	c.(505-510)tcagacfs	p.D170fs		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	170	Ser-rich.				histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GTTCAGATTCAGACTCTTCCTC	0.485													-	41749920	AG	-	41749919	7	5	731	1	0	1	0	1	0	0	0	0	13812	175	7	0	521	0	RTF1	15	41749919	Frame_Shift_Del	DEL	AG	TCGA-S9-A7QZ-01A-12D-A34J-08		41749919	60781473	66	55664											
MGA	23269	broad.mit.edu	37	chr15	42005362	42005362	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttaggcatccctcaaaaCtaaacctatccacacaatca	16	9	2	14	0	2	0	2	0	0	0	4	0	4	0	3	1	2	1	3	1	7	4			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:42005362C>T	ENST00000219905.7	+	9	3279	c.3098C>T	c.(3097-3099)aCt>aTt	p.T1033I	MGA_ENST00000566586.1_Missense_Mutation_p.T1033I|MGA_ENST00000570161.1_Missense_Mutation_p.T1033I|MGA_ENST00000545763.1_Missense_Mutation_p.T1033I|MGA_ENST00000389936.4_Missense_Mutation_p.T1033I	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1033						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		TCCCTCAAAACTAAACCTATC	0.448													T	42005362	C	T	42005362	3	4	731	1	0	0	0	0	1	0	0	0	9615	565	20	2	3128	2	MGA	15	42005362	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	255443	42005362	60526030	67	55665											
TPM1	7168	broad.mit.edu	37	chr15	63335041	63335043	+	In_Frame_Del	DEL	AAG	AAG	-																															ccgccaccatggacgccatcAagaagaagatgcagatgctg																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:63335041_63335043delAAG	ENST00000357980.4	+	1	92_94	c.13_15delAAG	c.(13-15)aagdel	p.K7del	TPM1_ENST00000559556.1_In_Frame_Del_p.K7del|TPM1_ENST00000560445.1_In_Frame_Del_p.K7del|TPM1_ENST00000559397.1_In_Frame_Del_p.K7del|TPM1_ENST00000267996.7_In_Frame_Del_p.K7del|TPM1_ENST00000358278.3_In_Frame_Del_p.K7del|TPM1_ENST00000403994.3_In_Frame_Del_p.K7del|TPM1_ENST00000288398.6_In_Frame_Del_p.K7del			P09493	TPM1_HUMAN	tropomyosin 1 (alpha)	7					cardiac muscle contraction|cellular component movement|cellular response to reactive oxygen species|muscle filament sliding|negative regulation of cell migration|positive regulation of ATPase activity|positive regulation of cell adhesion|positive regulation of heart rate by epinephrine|positive regulation of stress fiber assembly|regulation of muscle contraction|ruffle organization|sarcomere organization|ventricular cardiac muscle tissue morphogenesis|wound healing	bleb|cytosol|muscle thin filament tropomyosin|ruffle membrane|stress fiber	actin binding|structural constituent of cytoskeleton|structural constituent of muscle			endometrium(1)|large_intestine(1)|lung(2)	4						GGACGCCATCAAGAAGAAGATGC	0.69													-	63335043	AAG	-	63335041	7	5	731	1	0	1	0	1	0	0	0	0	16506	131	5	0	15	0	TPM1	15	63335041	In_Frame_Del	DEL	AAG	TCGA-S9-A7QZ-01A-12D-A34J-08	21329679	63335041	39196351	68	55666											
C15orf39	56905	broad.mit.edu	37	chr15	75498581	75498581	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgagtctgagcagttggcGtcctggaccccatacccacc	7	7	11	16	2	1	1	0	1	1	0	2	3	2	2	6	2	2	2	6	2	1	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr15:75498581G>A	ENST00000360639.2	+	2	512	c.192G>A	c.(190-192)gcG>gcA	p.A64A	C15orf39_ENST00000567617.1_Silent_p.A64A|C15orf39_ENST00000394987.4_Silent_p.A64A			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	64								p.A64A(1)		autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						AGCAGTTGGCGTCCTGGACCC	0.597													A	75498581	G	A	75498581	2	1	731	1	0	0	0	0	0	0	0	1	1806	1132	40	1		1	C15orf39	15	75498581	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	12163540	75498581	27032811	69	55667											
ADCY9	115	broad.mit.edu	37	chr16	4164385	4164387	+	In_Frame_Del	DEL	CTC	CTC	-																															ctcttgacagaattctcactCtcctcatctccctgcttcat																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:4164385_4164387delCTC	ENST00000294016.3	-	2	1595_1597	c.1057_1059delGAG	c.(1057-1059)gagdel	p.E353del		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	353					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						AATTCTCACTCTCCTCATCTCCC	0.478													-	4164387	CTC	-	4164385	7	5	731	1	0	1	0	1	0	0	0	0	301	912	32	0	3042	0	ADCY9	16	4164385	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08		4164385	86190368	70	55668											
TXNDC11	51061	broad.mit.edu	37	chr16	11773509	11773512	+	Frame_Shift_Del	DEL	TCTC	TCTC	-																															ttctgctctcagtttctggaTctctctctccaagtgggaga																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:11773509_11773512delTCTC	ENST00000356957.3	-	13	2604_2607	c.2497_2500delGAGA	c.(2497-2502)gagatcfs	p.EI833fs	TXNDC11_ENST00000283033.5_Frame_Shift_Del_p.EI806fs|TXNDC11_ENST00000570917.1_5'UTR			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	833					cell redox homeostasis	endoplasmic reticulum membrane|integral to membrane				endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						AGTTTCTGGATCTCTCTCTCCAAG	0.588													-	11773512	TCTC	-	11773509	7	5	731	1	0	1	0	1	0	0	0	0	16894	1435	50	0	461	0	TXNDC11	16	11773509	Frame_Shift_Del	DEL	TCTC	TCGA-S9-A7QZ-01A-12D-A34J-08	7609124	11773509	78581244	71	55669											
RRAD	6236	broad.mit.edu	37	chr16	66956055	66956055	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggctgttacgagctacgatgCggcccaagaagcgcttcgcc	8	7	13	13	5	0	1	0	0	0	1	1	3	0	1	2	2	5	4	2	2	4	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr16:66956055C>T	ENST00000299759.6	-	5	1101	c.851G>A	c.(850-852)cGc>cAc	p.R284H	RRAD_ENST00000420652.1_Missense_Mutation_p.R284H			P55042	RAD_HUMAN	Ras-related associated with diabetes	284	Calmodulin-binding.				small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCTACGATGCGGCCCAAGAA	0.612													T	66956055	C	T	66956055	3	4	731	1	0	0	0	0	1	0	0	0	13762	768	27	1	79	1	RRAD	16	66956055	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	55182546	66956055	23398698	72	55670											
MYO1C	4641	broad.mit.edu	37	chr17	1384090	1384090	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctccagcagctggtagaaGatgtggaagttccgctcccc	8	8	11	14	1	0	2	0	0	0	2	3	3	3	3	5	2	2	5	5	2	3	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:1384090G>T	ENST00000359786.5	-	6	1041	c.717C>A	c.(715-717)atC>atA	p.I239I	MYO1C_ENST00000573198.1_5'UTR|MYO1C_ENST00000361007.2_Silent_p.I204I|MYO1C_ENST00000575158.1_Silent_p.I204I|MYO1C_ENST00000438665.2_Silent_p.I220I|MYO1C_ENST00000545534.2_Silent_p.I215I	NM_001080779.1	NP_001074248.1	O00159	MYO1C_HUMAN	myosin IC	239	Myosin head-like.				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		GCTGGTAGAAGATGTGGAAGT	0.607													T	1384090	G	T	1384090	2	4	731	1	0	0	0	0	0	0	0	1	10146	932	33	4		4	MYO1C	17	1384090	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		1384090	79811120	73	55671											
EIF4A1	1973	broad.mit.edu	37	chr17	7476160	7476160	+	Translation_Start_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccctagtttctaaggatcAtgtctgcgagccaggattcc	8	11	10	12	2	3	0	1	0	2	0	4	3	4	2	3	2	2	1	3	2	2	4			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:7476160A>C	ENST00000293831.8	+	1	17	c.1A>C	c.(1-3)Atg>Ctg	p.M1L	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Start_Codon_SNP_p.M1L|EIF4A1_ENST00000380512.5_5'UTR|EIF4A1_ENST00000582746.1_Start_Codon_SNP_p.M1L	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	1					nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						TCTAAGGATCATGTCTGCGAG	0.627													C	7476160	A	C	7476160	1	2	731	1	0	0	0	0	0	0	0	0	5065	217	8	5		5	EIF4A1	17	7476160	Translation_Start_Site	SNP	A	TCGA-S9-A7QZ-01A-12D-A34J-08	6092070	7476160	73719050	74	55672											
TP53	7157	broad.mit.edu	37	chr17	7578275	7578277	+	In_Frame_Del	DEL	GAG	GAG	-																															ttccactcggataagatgctGaggaggggccagacctaaga																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:7578275_7578277delGAG	ENST00000420246.2	-	6	704_706	c.572_574delCTC	c.(571-576)cctcag>cag	p.P191del	TP53_ENST00000359597.4_In_Frame_Del_p.P191del|TP53_ENST00000413465.2_In_Frame_Del_p.P191del|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_In_Frame_Del_p.P191del|TP53_ENST00000445888.2_In_Frame_Del_p.P191del|TP53_ENST00000269305.4_In_Frame_Del_p.P191del	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	191	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> 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.Q192*(83)|p.0?(8)|p.P191del(7)|p.Q99*(6)|p.?(6)|p.Q60*(6)|p.P191delP(4)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.P191fs*53(2)|p.P191L(2)|p.P191R(2)|p.G187fs*16(2)|p.P59delP(2)|p.P98delP(2)|p.P191fs*56(1)|p.P191fs*6(1)|p.A189_Q192>E(1)|p.P59_E66>Q(1)|p.P191fs*15(1)|p.P191H(1)|p.P191P(1)|p.P191_Q192delPQ(1)|p.D186_P191delDGLAPP(1)|p.Q192K(1)|p.P98_E105>Q(1)|p.A189fs*53(1)|p.Q192fs*56(1)|p.Q192del(1)|p.Q192fs*16(1)|p.L188_P191del(1)|p.Q192fs*30(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)		ATAAGATGCTGAGGAGGGGCCAG	0.557		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)			-	7578277	GAG	-	7578275	7	5	731	1	0	1	0	1	0	0	0	0	16482	1299	45	0	720	0	TP53	17	7578275	In_Frame_Del	DEL	GAG	TCGA-S9-A7QZ-01A-12D-A34J-08	102115	7578275	73616935	75	55673											
B9D1	27077	broad.mit.edu	37	chr17	19251097	19251097	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcagaatgaggacctacCggccaggtgagaagggcacg	12	4	16	9	2	1	3	1	2	0	2	1	5	1	4	3	5	1	1	3	5	3	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:19251097C>T	ENST00000477478.2	-	4	601	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	B9D1_ENST00000395616.3_Splice_Site_p.R114Q|B9D1_ENST00000268841.6_Splice_Site_p.R114Q|B9D1_ENST00000575403.1_Splice_Site_p.G90S|B9D1_ENST00000395615.1_Splice_Site_p.R114Q|B9D1_ENST00000461069.2_Splice_Site_p.R114Q|B9D1_ENST00000261499.4_Splice_Site_p.R114Q			Q9UPM9	B9D1_HUMAN	B9 protein domain 1	0	B9.				cilium assembly	centrosome|microtubule basal body	protein binding			large_intestine(3)|urinary_tract(1)	4	all_cancers(12;2.04e-05)|all_epithelial(12;0.000806)|Hepatocellular(7;0.00345)|Breast(13;0.143)					GAGGACCTACCGGCCAGGTGA	0.587													T	19251097	C	T	19251097	5	4	731	1	0	0	0	0	0	0	1	0	1282	666	23	1	289	1	B9D1	17	19251097	Splice_Site	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	11672822	19251097	61944113	76	55674											
RNF43	54894	broad.mit.edu	37	chr17	56440939	56440939	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	caaagaggacagcactggctCctcgctcacccgccatccga	10	5	9	17	3	1	1	1	0	0	1	4	3	3	2	4	2	1	3	4	2	1	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:56440939C>T	ENST00000584437.1	-	3	2353	c.398G>A	c.(397-399)gGa>gAa	p.G133E	RNF43_ENST00000500597.2_Missense_Mutation_p.G92E|RNF43_ENST00000577716.1_Missense_Mutation_p.G133E|RNF43_ENST00000577625.1_Missense_Mutation_p.G6E|BZRAP1-AS1_ENST00000583841.1_RNA|RNF43_ENST00000407977.2_Missense_Mutation_p.G133E|RNF43_ENST00000581868.1_Missense_Mutation_p.G6E|RNF43_ENST00000583753.1_Missense_Mutation_p.G92E			Q68DV7	RNF43_HUMAN	ring finger protein 43	133						endoplasmic reticulum membrane|integral to membrane|nuclear envelope	ligase activity|protein binding|zinc ion binding			NS(1)|biliary_tract(5)|breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(14)|lung(9)|ovary(2)|pancreas(10)|prostate(1)|skin(4)	60	Medulloblastoma(34;0.127)|all_neural(34;0.237)					AGCACTGGCTCCTCGCTCACC	0.612													T	56440939	C	T	56440939	3	4	731	1	0	0	0	0	1	0	0	0	13586	855	30	2	1981	2	RNF43	17	56440939	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	37189842	56440939	24754271	77	55675											
SCN4A	6329	broad.mit.edu	37	chr17	62045570	62045570	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtcgttgaacggcgggggCcagcgcacacacttctgcct	6	8	14	13	4	1	1	0	1	1	0	2	1	1	1	2	3	3	2	2	3	1	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr17:62045570C>T	ENST00000578147.1	-	6	925	c.849G>A	c.(847-849)tgG>tgA	p.W283*	SCN4A_ENST00000435607.1_Nonsense_Mutation_p.W283*			P35499	SCN4A_HUMAN	sodium channel, voltage-gated, type IV, alpha subunit	283					muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity			breast(4)|central_nervous_system(3)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(23)|lung(40)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	101					Lamotrigine(DB00555)	ACGGCGGGGGCCAGCGCACAC	0.547													T	62045570	C	T	62045570	4	4	731	1	0	0	0	0	0	1	0	0	14013	740	26	2	4737	2	SCN4A	17	62045570	Nonsense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	5604631	62045570	19149640	78	55676											
CEP192	55125	broad.mit.edu	37	chr18	13095576	13095578	+	In_Frame_Del	DEL	CTC	CTC	-																															agtcaaaggtcctcagggttCtcctcttctctcacgggcgg																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr18:13095576_13095578delCTC	ENST00000506447.1	+	35	6409_6411	c.6329_6331delCTC	c.(6328-6333)tctcct>tct	p.P2111del	CEP192_ENST00000540847.2_3'UTR|CEP192_ENST00000430049.2_In_Frame_Del_p.P1636del|CEP192_ENST00000325971.8_In_Frame_Del_p.P1515del	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN	centrosomal protein 192kDa	1706										NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						CCTCAGGGTTCTCCTCTTCTCTC	0.512													-	13095578	CTC	-	13095576	7	5	731	1	0	1	0	1	0	0	0	0	3281	913	32	0	6463	0	CEP192	18	13095576	In_Frame_Del	DEL	CTC	TCGA-S9-A7QZ-01A-12D-A34J-08		13095576	64981672	79	55677											
MIER2	54531	broad.mit.edu	37	chr19	307470	307470	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggccctggctccgaggacGggagtccatcagaggccact	8	5	14	14	3	1	1	1	0	0	1	3	4	3	3	4	5	0	1	4	5	0	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:307470G>A	ENST00000264819.4	-	13	1275	c.1265C>T	c.(1264-1266)cCg>cTg	p.P422L		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	422					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	p.P422L(1)		endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CTCCGAGGACGGGAGTCCATC	0.662													A	307470	G	A	307470	3	1	731	1	0	0	0	0	1	0	0	0	9656	1116	39	1	380	1	MIER2	19	307470	Missense_Mutation	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08		307470	58821513	80	55678											
ATP8B3	148229	broad.mit.edu	37	chr19	1791999	1791999	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgctccatctcgttgtacaCctgttgcagggcctgtgccc	4	12	10	15	1	1	0	0	0	1	0	3	0	2	0	4	1	4	5	4	1	1	3			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:1791999C>G	ENST00000539485.1	-	19	2424	c.2191G>C	c.(2191-2193)Gtg>Ctg	p.V731L	ATP8B3_ENST00000310127.6_Splice_Site|ATP8B3_ENST00000525591.1_Missense_Mutation_p.V684L			O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	730					ATP biosynthetic process		ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		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)		TCGTTGTACACCTGTTGCAGG	0.687													G	1791999	C	G	1791999	3	3	731	1	0	0	0	0	1	0	0	0	1201	521	18	4	1785	4	ATP8B3	19	1791999	Missense_Mutation	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	1484529	1791999	57336984	81	55679											
AP3D1	8943	broad.mit.edu	37	chr19	2111786	2111788	+	In_Frame_Del	DEL	CTT	CTT	-																															ttgcctttggtccgctcctcCttctccttcctgtgcttctt																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:2111786_2111788delCTT	ENST00000355272.6	-	25	3033_3035	c.2827_2829delAAG	c.(2827-2829)aagdel	p.K943del	AP3D1_ENST00000356926.4_In_Frame_Del_p.K840del|AP3D1_ENST00000345016.5_In_Frame_Del_p.K881del|AP3D1_ENST00000350812.6_In_Frame_Del_p.K712del	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	883					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		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)		tccgctcctccttctccttcctg	0.616													-	2111788	CTT	-	2111786	7	5	731	1	0	1	0	1	0	0	0	0	748	680	24	0	850	0	AP3D1	19	2111786	In_Frame_Del	DEL	CTT	TCGA-S9-A7QZ-01A-12D-A34J-08	319787	2111786	57017197	82	55680											
TNFSF14	8740	broad.mit.edu	37	chr19	6665024	6665024	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acacggacgaccaccttctcCccagcctccaggtgtaccac	9	6	7	19	2	1	0	0	0	1	0	3	2	2	1	7	2	2	1	7	2	1	2			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:6665024C>T	ENST00000326176.9	-	5	909	c.528G>A	c.(526-528)ggG>ggA	p.G176G	TNFSF14_ENST00000245912.3_Silent_p.G176G|TNFSF14_ENST00000599359.1_Silent_p.G212G	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	212					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						CCACCTTCTCCCCAGCCTCCA	0.627													T	6665024	C	T	6665024	2	4	731	1	0	0	0	0	0	0	0	1	16407	610	22	2		2	TNFSF14	19	6665024	Silent	SNP	C	TCGA-S9-A7QZ-01A-12D-A34J-08	4553238	6665024	52463959	83	55681											
OR10H1	26539	broad.mit.edu	37	chr19	15918425	15918425	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagcagcccaccaggcaggcGcagccccgcgggctcatgag	8	2	15	16	3	1	1	1	1	0	0	1	2	1	1	4	3	3	4	4	3	0	0			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:15918425G>A	ENST00000334920.2	-	1	511	c.423C>T	c.(421-423)tgC>tgT	p.C141C		NM_013940.2	NP_039228.1	Q9Y4A9	O10H1_HUMAN	olfactory receptor, family 10, subfamily H, member 1	141					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(4)|skin(2)|urinary_tract(1)	29						CCAGGCAGGCGCAGCCCCGCG	0.647													A	15918425	G	A	15918425	2	1	731	1	0	0	0	0	0	0	0	1	10981	1079	38	1		1	OR10H1	19	15918425	Silent	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	9253401	15918425	43210558	84	55682											
CYP4F11	57834	broad.mit.edu	37	chr19	16038092	16038092	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgaaatggaaggcaggcGtcaacatccgacggtggcgg	10	7	16	8	4	1	1	1	1	0	0	2	3	2	2	1	6	1	2	1	6	3	1	rs145564844	byFrequency	TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:16038092G>A	ENST00000591841.1	-	0	739				CYP4F11_ENST00000248041.8_Missense_Mutation_p.T152M|CYP4F11_ENST00000402119.4_Missense_Mutation_p.T152M|CYP4F11_ENST00000326742.8_Missense_Mutation_p.T152M			Q9HBI6	CP4FB_HUMAN	cytochrome P450, family 4, subfamily F, polypeptide 11						inflammatory response|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	aromatase activity|electron carrier activity|heme binding			NS(1)|breast(3)|endometrium(4)|large_intestine(2)|lung(11)|ovary(1)|skin(3)	25						GAAGGCAGGCGTCAACATCCG	0.552													A	16038092	G	A	16038092	1	1	731	1	0	0	0	0	0	0	0	0	4219	1145	40	1		1	CYP4F11	19	16038092	Translation_Start_Site	SNP	G	TCGA-S9-A7QZ-01A-12D-A34J-08	119667	16038092	43090891	85	55683											
UBA2	10054	broad.mit.edu	37	chr19	34957913	34957913	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggagctcagccctccaccTccacaggtgagtatggcccc	8	7	10	16	0	1	1	1	1	0	0	3	2	3	2	6	3	2	2	6	3	1	1			TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:34957913T>A	ENST00000439527.2	+	16	1945	c.1447T>A	c.(1447-1449)Tcc>Acc	p.S483T	UBA2_ENST00000246548.4_Missense_Mutation_p.S579T|UBA2_ENST00000592791.1_Missense_Mutation_p.S105T			Q9UBT2	SAE2_HUMAN	ubiquitin-like modifier activating enzyme 2	579					protein sumoylation	nucleus	ATP binding|enzyme activator activity|ligase activity|metal ion binding|protein heterodimerization activity|SUMO activating enzyme activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)	20	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GCCCTCCACCTCCACAGGTGA	0.463													A	34957913	T	A	34957913	3	1	731	1	0	0	0	0	1	0	0	0	16930	1551	54	5	1797	5	UBA2	19	34957913	Missense_Mutation	SNP	T	TCGA-S9-A7QZ-01A-12D-A34J-08	18919821	34957913	24171070	86	55684											
CIC	23152	broad.mit.edu	37	chr19	42796461	42796462	+	Frame_Shift_Del	DEL	TG	TG	-																															tcctgcggcagaatcacctaTgtgcagtcagcgggcgggca																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:42796461_42796462delTG	ENST00000572681.2	+	14	5813_5814	c.5745_5746delTG	c.(5743-5748)tatgtgfs	p.V1916fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.V1007fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.V1007fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1007					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.V1007fs*28(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GAATCACCTATGTGCAGTCAGC	0.649			"Mis, F, S"		oligodendroglioma								-	42796462	TG	-	42796461	7	5	731	1	0	1	0	1	0	0	0	0	3454	1471	51	0	3068	0	CIC	19	42796461	Frame_Shift_Del	DEL	TG	TCGA-S9-A7QZ-01A-12D-A34J-08	7838548	42796461	16332522	87	55685											
ZNF468	90333	broad.mit.edu	37	chr19	53345269	53345272	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															gaaactcgaagccatgaatgTctttctcaatttcatggaaa																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr19:53345269_53345272delTCTT	ENST00000595646.1	-	4	395_398	c.275_278delAAGA	c.(274-279)aaagacfs	p.KD92fs	ZNF468_ENST00000396409.4_Frame_Shift_Del_p.KD39fs|ZNF28_ENST00000594602.1_Intron|ZNF468_ENST00000243639.4_3'UTR|ZNF468_ENST00000390651.4_Frame_Shift_Del_p.KD39fs			Q5VIY5	ZN468_HUMAN	zinc finger protein 468	92					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(3)|urinary_tract(1)	23				GBM - Glioblastoma multiforme(134;0.0358)		GCCATGAATGTCTTTCTCAATTTC	0.436													-	53345272	TCTT	-	53345269	7	5	731	1	0	1	0	1	0	0	0	0	18029	1667	58	0	1294	0	ZNF468	19	53345269	Frame_Shift_Del	DEL	TCTT	TCGA-S9-A7QZ-01A-12D-A34J-08	10548808	53345269	5783714	88	55686											
NCOA5	57727	broad.mit.edu	37	chr20	44691371	44691373	+	In_Frame_Del	DEL	GAG	GAG	-																															gtgccactattgaagaggctGaggattttggcctgaagctc																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr20:44691371_44691373delGAG	ENST00000290231.6	-	8	1470_1472	c.1306_1308delCTC	c.(1306-1308)ctcdel	p.L436del		NM_020967.2	NP_066018.1	Q9HCD5	NCOA5_HUMAN	nuclear receptor coactivator 5	436					regulation of transcription, DNA-dependent|transcription, DNA-dependent|translation	nucleus	aminoacyl-tRNA ligase activity|ATP binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|skin(2)|urinary_tract(1)	21		Myeloproliferative disorder(115;0.0122)				TGAAGAGGCTGAGGATTTTGGCC	0.586													-	44691373	GAG	-	44691371	7	5	731	1	0	1	0	1	0	0	0	0	10308	1277	45	0	435	0	NCOA5	20	44691371	In_Frame_Del	DEL	GAG	TCGA-S9-A7QZ-01A-12D-A34J-08		44691371	18334149	89	55687											
MKL1	57591	broad.mit.edu	37	chr22	40807847	40807848	+	Frame_Shift_Del	DEL	TG	TG	-																															gccaggggggacccacagacTgtcttcggggatggcttctc																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chr22:40807847_40807848delTG	ENST00000396617.3	-	15	2942_2943	c.2352_2353delCA	c.(2350-2355)gacagtfs	p.DS784fs	MKL1_ENST00000355630.3_Frame_Shift_Del_p.T781fs|MKL1_ENST00000407029.1_Frame_Shift_Del_p.T781fs|MKL1_ENST00000402042.1_Frame_Shift_Del_p.T731fs	NM_001282662.1	NP_001269591.1	Q969V6	MKL1_HUMAN	megakaryoblastic leukemia (translocation) 1	0	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|smooth muscle cell differentiation|transcription, DNA-dependent	cytoplasm|nucleus	actin monomer binding|leucine zipper domain binding|nucleic acid binding|transcription coactivator activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	30						ACCCACAGACTGTCTTCGGGGA	0.589			T	RBM15	acute megakaryocytic leukemia								-	40807848	TG	-	40807847	7	5	731	1	0	1	0	1	0	0	0	0	9676	1567	55	0	456	0	MKL1	22	40807847	Frame_Shift_Del	DEL	TG	TCGA-S9-A7QZ-01A-12D-A34J-08		40807847	10496719	90	55688											
LAMP2	3920	broad.mit.edu	37	chrX	119580172	119580173	+	Frame_Shift_Del	DEL	AA	AA	-																															ttactcaccacagcaaagacAaagtctagatacttaatggt																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:119580172_119580173delAA	ENST00000371335.4	-	6	987_988	c.851_852delTT	c.(850-852)tttfs	p.F284fs	LAMP2_ENST00000540603.1_Frame_Shift_Del_p.F237fs|LAMP2_ENST00000434600.2_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000200639.4_Frame_Shift_Del_p.F284fs|LAMP2_ENST00000538785.1_Frame_Shift_Del_p.F173fs	NM_013995.2	NP_054701.1	P13473	LAMP2_HUMAN	lysosomal-associated membrane protein 2	284	Second lumenal domain.				platelet activation|platelet degranulation	endosome membrane|integral to membrane|late endosome|lysosomal membrane|membrane fraction|plasma membrane|platelet dense granule membrane				endometrium(4)|large_intestine(2)|lung(5)|ovary(2)|urinary_tract(2)	15						CAGCAAAGACAAAGTCTAGATA	0.411													-	119580173	AA	-	119580172	7	5	731	1	0	1	0	1	0	0	0	0	8677	127	5	0	687	0	LAMP2	23	119580172	Frame_Shift_Del	DEL	AA	TCGA-S9-A7QZ-01A-12D-A34J-08		119580172	35690388	91	55689											
ACTRT1	139741	broad.mit.edu	37	chrX	127185177	127185180	+	Frame_Shift_Del	DEL	ATCT	ATCT	-																															accaatccatgcagagaagcAtctatcaggagaagctgtga																										TCGA-S9-A7QZ-01A-12D-A34J-08	TCGA-S9-A7QZ-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	14fee64e-4ac6-4be2-843b-3c7276b0e851	fa940bbf-110e-4dae-a44b-d6ddabf2c0d8	g.chrX:127185177_127185180delATCT	ENST00000371124.3	-	1	1202_1205	c.1006_1009delAGAT	c.(1006-1011)agatgcfs	p.RC336fs		NM_138289.3	NP_612146.1	Q8TDG2	ACTT1_HUMAN	actin-related protein T1	336						cytoplasm|cytoskeleton				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|skin(3)	34						GCAGAGAAGCATCTATCAGGAGAA	0.52													-	127185180	ATCT	-	127185177	7	5	731	1	0	1	0	1	0	0	0	0	218	217	8	0	125	0	ACTRT1	23	127185177	Frame_Shift_Del	DEL	ATCT	TCGA-S9-A7QZ-01A-12D-A34J-08	7605005	127185177	28085383	92	55690											
KIAA1522	57648	broad.mit.edu	37	chr1	33235952	33235952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggccagcccagcctcagtccGctcgctggggcgcttctcct	3	8	12	18	3	2	0	1	0	1	0	5	0	3	0	5	3	2	3	5	3	0	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:33235952G>A	ENST00000401073.2	+	6	1242	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	KIAA1522_ENST00000373481.3_Missense_Mutation_p.R343H|KIAA1522_ENST00000373480.1_Missense_Mutation_p.R332H|KIAA1522_ENST00000294521.3_Intron	NM_020888.2	NP_065939.2	Q9P206	K1522_HUMAN	KIAA1522	332	Ser-rich.									breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Breast(348;0.244)				GCCTCAGTCCGCTCGCTGGGG	0.692													A	33235952	G	A	33235952	3	1	732	1	0	0	0	0	1	0	0	0	8296	1087	38	1	1194	1	KIAA1522	1	33235952	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		33235952	216014669	1	55691											
GDAP2	54834	broad.mit.edu	37	chr1	118413222	118413222	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtgatgggggatatgatgtaTagtaaggcccgttttcctgt	8	14	14	5	1	0	2	0	2	0	0	1	3	1	3	2	3	0	3	2	3	4	6			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:118413222T>C	ENST00000369443.5	-	14	1712	c.1463A>G	c.(1462-1464)tAt>tGt	p.Y488C		NM_017686.3	NP_060156.1	Q9NXN4	GDAP2_HUMAN	ganglioside induced differentiation associated protein 2											kidney(2)|large_intestine(3)|lung(9)|ovary(2)	16		all_cancers(81;0.0156)|all_lung(203;5.81e-05)|Lung NSC(69;0.000446)|all_epithelial(167;0.00295)		Lung(183;0.0583)|LUSC - Lung squamous cell carcinoma(189;0.194)		ATATGATGTATAGTAAGGCCC	0.408													C	118413222	T	C	118413222	3	2	732	1	0	0	0	0	1	0	0	0	6364	1406	49	3	34	3	GDAP2	1	118413222	Missense_Mutation	SNP	T	TCGA-S9-A7R1-01A-12D-A34J-08	85177270	118413222	130837399	2	55692											
FCRL3	115352	broad.mit.edu	37	chr1	157665283	157665283	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgacatcctcatgataaaatCggtacaggatcgggggagag	13	8	13	7	2	1	3	1	2	0	1	4	5	2	4	1	4	1	1	1	4	3	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr1:157665283C>T	ENST00000368184.3	-	8	1538	c.1247G>A	c.(1246-1248)cGa>cAa	p.R416Q	FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Missense_Mutation_p.R416Q|RP11-367J7.3_ENST00000453692.1_RNA	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	416	Ig-like C2-type 5.					integral to membrane|plasma membrane	receptor activity			autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					ATGATAAAATCGGTACAGGAT	0.587													T	157665283	C	T	157665283	3	4	732	1	0	0	0	0	1	0	0	0	5845	884	31	1	989	1	FCRL3	1	157665283	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	39252061	157665283	91585338	3	55693											
IL1R1	3554	broad.mit.edu	37	chr2	102782633	102782633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtcaaagataggctcatcGtgatgaatgtggctgaaaag	14	9	13	5	1	2	4	2	3	0	1	3	5	2	4	0	2	0	2	0	2	5	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:102782633G>A	ENST00000410023.1	+	6	865	c.547G>A	c.(547-549)Gtg>Atg	p.V183M	IL1R1_ENST00000233946.3_Missense_Mutation_p.V183M|IL1R1_ENST00000409929.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409589.1_Intron|IL1R1_ENST00000424272.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409288.1_Missense_Mutation_p.V183M|IL1R1_ENST00000409329.1_Missense_Mutation_p.V183M			P14778	IL1R1_HUMAN	interleukin 1 receptor, type I	183	Ig-like C2-type 2.				innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity|platelet-derived growth factor receptor binding			breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|prostate(2)|skin(3)	19					Anakinra(DB00026)	TAGGCTCATCGTGATGAATGT	0.388													A	102782633	G	A	102782633	3	1	732	1	0	0	0	0	1	0	0	0	7716	1145	40	1	561	1	IL1R1	2	102782633	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		102782633	140416740	4	55694											
LCT	3938	broad.mit.edu	37	chr2	136566483	136566483	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccagggagaactgcagcattCggtcagcggcttccacatct	9	8	11	13	2	2	1	1	0	1	1	4	2	3	1	2	3	4	3	2	3	1	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:136566483C>T	ENST00000264162.2	-	8	3444	c.3434G>A	c.(3433-3435)cGa>cAa	p.R1145Q		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1145	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CTGCAGCATTCGGTCAGCGGC	0.562													T	136566483	C	T	136566483	3	4	732	1	0	0	0	0	1	0	0	0	8752	884	31	1	2389	1	LCT	2	136566483	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	33783850	136566483	106632890	5	55695											
HNMT	3176	broad.mit.edu	37	chr2	138722122	138722122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatgttgaatctttccggAggtttctcaaccattccacg	10	14	7	10	2	2	1	1	1	2	0	5	2	4	2	3	2	1	2	3	2	4	5			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr2:138722122A>G	ENST00000280097.3	+	1	243	c.61A>G	c.(61-63)Agg>Ggg	p.R21G	HNMT_ENST00000485653.1_3'UTR|HNMT_ENST00000410115.1_Missense_Mutation_p.R21G|HNMT_ENST00000280096.5_Missense_Mutation_p.R21G|HNMT_ENST00000329366.4_Missense_Mutation_p.R21G	NM_006895.2	NP_008826.1	P50135	HNMT_HUMAN	histamine N-methyltransferase	21					respiratory gaseous exchange	cytoplasm	histamine N-methyltransferase activity			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(221;0.125)	Amodiaquine(DB00613)|Histamine Phosphate(DB00667)|Quinacrine(DB01103)	ATCTTTCCGGAGGTTTCTCAA	0.448													G	138722122	A	G	138722122	3	3	732	1	0	0	0	0	1	0	0	0	7310	295	11	3	63	3	HNMT	2	138722122	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08	2155639	138722122	104477251	6	55696											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	732	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	70390990	209113112	34086261	7	55697											
ZBTB11	27107	broad.mit.edu	37	chr3	101384637	101384637	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attccagtaaaggaaggaagCtggccttacaaaaacctgta	16	8	9	8	0	0	0	0	0	0	0	1	2	1	2	3	3	3	3	3	3	8	4			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr3:101384637C>T	ENST00000312938.4	-	4	1374	c.794G>A	c.(793-795)aGc>aAc	p.S265N		NM_014415.3	NP_055230.2	O95625	ZBT11_HUMAN	zinc finger and BTB domain containing 11	265	BTB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	37						AGGAAGGAAGCTGGCCTTACA	0.323													T	101384637	C	T	101384637	3	4	732	1	0	0	0	0	1	0	0	0	17625	797	28	2	2399	2	ZBTB11	3	101384637	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		101384637	96637793	8	55698											
ANXA5	308	broad.mit.edu	37	chr4	122602906	122602906	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtcagtactttttcatttGttccagctccctgtttggag	5	18	8	10	0	2	0	2	0	0	0	4	1	4	1	2	1	2	4	2	1	1	6			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:122602906G>T	ENST00000296511.5	-	6	599	c.314C>A	c.(313-315)aCa>aAa	p.T105K	ANXA5_ENST00000509016.1_5'UTR|ANXA5_ENST00000515017.1_Intron|ANXA5_ENST00000501272.2_Missense_Mutation_p.T45K	NM_001154.3	NP_001145.1	P08758	ANXA5_HUMAN	annexin A5	105					anti-apoptosis|blood coagulation|negative regulation of coagulation|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity			NS(1)|breast(1)|endometrium(2)|large_intestine(1)|lung(9)|ovary(1)	15						TTTTTCATTTGTTCCAGCTCC	0.308													T	122602906	G	T	122602906	3	4	732	1	0	0	0	0	1	0	0	0	721	1377	48	4	680	4	ANXA5	4	122602906	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		122602906	68551370	9	55699											
ANKRD50	57182	broad.mit.edu	37	chr4	125590881	125590881	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaattttttgagcttttcAgggaattatttgacagtgat	11	18	9	3	0	1	4	1	4	0	0	1	5	1	5	0	1	1	1	0	1	3	7			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr4:125590881A>G	ENST00000504087.1	-	4	4588	c.3551T>C	c.(3550-3552)cTg>cCg	p.L1184P	ANKRD50_ENST00000515641.1_Missense_Mutation_p.L1005P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	1184	Ser-rich.									NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						TGAGCTTTTCAGGGAATTATT	0.393													G	125590881	A	G	125590881	3	3	732	1	0	0	0	0	1	0	0	0	677	188	7	3	742	3	ANKRD50	4	125590881	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08	2987975	125590881	65563395	10	55700											
PRLR	5618	broad.mit.edu	37	chr5	35065444	35065444	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actccttattgttctcaggaGtcccgggcttcttgggcttg	4	15	11	11	1	2	0	1	0	2	0	5	1	4	1	2	3	0	3	2	3	1	6			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr5:35065444G>A	ENST00000382002.5	-	10	2042	c.1616C>T	c.(1615-1617)aCt>aTt	p.T539I	PRLR_ENST00000342362.5_Missense_Mutation_p.T438I|PRLR_ENST00000513753.1_Intron|PRLR_ENST00000231423.3_Intron|PRLR_ENST00000348262.3_Intron|PRLR_ENST00000542609.1_Intron|PRLR_ENST00000310101.5_Silent_p.D348D|PRLR_ENST00000397391.3_Intron|PRLR_ENST00000511486.1_Missense_Mutation_p.T438I	NM_000949.5	NP_000940.1	P16471	PRLR_HUMAN	prolactin receptor	539					activation of JAK2 kinase activity|activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|embryo implantation|lactation|steroid biosynthetic process|T cell activation	cell surface|extracellular region|integral to membrane	metal ion binding|ornithine decarboxylase activator activity|peptide hormone binding|prolactin receptor activity|protein homodimerization activity			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48	all_lung(31;3.83e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		Dromostanolone(DB00858)|Fluoxymesterone(DB01185)|Pegvisomant(DB00082)|Somatropin recombinant(DB00052)	GTTCTCAGGAGTCCCGGGCTT	0.483													A	35065444	G	A	35065444	3	1	732	1	0	0	0	0	1	0	0	0	12617	1029	36	2	256	2	PRLR	5	35065444	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		35065444	145849816	11	55701											
DDX56	54606	broad.mit.edu	37	chr7	44613434	44613434	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctccccagccctcgcgtgtaCctgaaggagccggggatcga	7	6	13	15	4	0	1	0	1	0	0	3	4	1	3	5	3	3	1	5	3	2	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:44613434C>T	ENST00000258772.5	-	1	167		c.e1+1		DDX56_ENST00000431640.1_Splice_Site	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56						rRNA processing	nucleolus	ATP binding|ATP-dependent RNA helicase activity|identical protein binding|RNA binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CTCGCGTGTACCTGAAGGAGC	0.657													T	44613434	C	T	44613434	5	4	732	1	0	0	0	0	0	0	1	0	4408	521	18	2	1638	2	DDX56	7	44613434	Splice_Site	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		44613434	114525229	12	55702											
KCND2	3751	broad.mit.edu	37	chr7	119914768	119914768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgtggcctcggggcctatgCcggctcccccgaggcaggag	4	6	16	15	3	0	0	0	0	0	0	2	2	1	1	5	6	1	2	5	6	1	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:119914768C>T	ENST00000331113.4	+	1	1047	c.82C>T	c.(82-84)Ccg>Tcg	p.P28S		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	28					regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)					GGGGCCTATGCCGGCTCCCCC	0.632													T	119914768	C	T	119914768	3	4	732	1	0	0	0	0	1	0	0	0	8077	739	26	2	84	2	KCND2	7	119914768	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	75301334	119914768	39223895	13	55703											
ZNF786	136051	broad.mit.edu	37	chr7	148767777	148767777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcctctcccctgtgtgcaggCcctgatggctgagcagctgc	4	9	13	15	0	1	2	0	2	1	0	2	2	1	2	4	2	4	4	4	2	0	0			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr7:148767777C>T	ENST00000316286.9	-	3	2101	c.1829G>A	c.(1828-1830)gGc>gAc	p.G610D	ZNF786_ENST00000491431.1_Missense_Mutation_p.G696D|ZNF786_ENST00000451334.3_Missense_Mutation_p.G659D			Q8N393	ZN786_HUMAN	zinc finger protein 786	696					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TGTGTGCAGGCCCTGATGGCT	0.587													T	148767777	C	T	148767777	3	4	732	1	0	0	0	0	1	0	0	0	18257	739	26	2	265	2	ZNF786	7	148767777	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	28853009	148767777	10370886	14	55704											
TNKS	8658	broad.mit.edu	37	chr8	9563758	9563758	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgaagtcacagaactgctaCtaaaggtaagagaaattcag	18	8	9	6	0	2	3	2	1	0	2	2	4	2	3	0	1	3	2	0	1	7	4			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:9563758C>G	ENST00000310430.6	+	7	1290	c.1264C>G	c.(1264-1266)Cta>Gta	p.L422V	TNKS_ENST00000520408.1_Missense_Mutation_p.L422V|TNKS_ENST00000518281.1_Missense_Mutation_p.L185V|TNKS_ENST00000518027.1_3'UTR	NM_003747.2	NP_003738.2	O95271	TNKS1_HUMAN	tankyrase, TRF1-interacting ankyrin-related ADP-ribose polymerase	422					mitotic spindle organization|mRNA transport|negative regulation of DNA binding|peptidyl-serine phosphorylation|peptidyl-threonine phosphorylation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of telomere maintenance via telomerase|protein auto-ADP-ribosylation|protein localization to chromosome, telomeric region|protein poly-ADP-ribosylation|protein polyubiquitination|protein transport|spindle assembly|transmembrane transport|Wnt receptor signaling pathway	chromosome, centromeric region|Golgi membrane|microsome|nuclear chromosome, telomeric region|nuclear membrane|nuclear pore|pericentriolar material	NAD+ ADP-ribosyltransferase activity|protein binding|zinc ion binding			NS(1)|endometrium(10)|kidney(6)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)	49				COAD - Colon adenocarcinoma(149;0.0467)		AGAACTGCTACTAAAGGTAAG	0.313													G	9563758	C	G	9563758	3	3	732	1	0	0	0	0	1	0	0	0	16419	564	20	4	1290	4	TNKS	8	9563758	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		9563758	136800264	15	55705											
NEFM	4741	broad.mit.edu	37	chr8	24772171	24772171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accagaatatgcaccaggccGaagagtggttcaaatgccgc	13	6	11	11	2	1	2	1	0	0	2	1	3	1	2	4	2	2	2	4	2	4	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr8:24772171G>A	ENST00000221166.5	+	1	1647	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	NEFM_ENST00000437366.2_Missense_Mutation_p.E289K|NEFM_ENST00000521540.1_3'UTR|NEFM_ENST00000518131.1_Missense_Mutation_p.E289K|GS1-72M22.1_ENST00000607058.1_RNA			P07197	NFM_HUMAN	neurofilament, medium polypeptide	289	Linker 2.|Rod.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		GCACCAGGCCGAAGAGTGGTT	0.602													A	24772171	G	A	24772171	3	1	732	1	0	0	0	0	1	0	0	0	10392	1059	37	1	867	1	NEFM	8	24772171	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	15208413	24772171	121591851	16	55706											
CBWD3	445571	broad.mit.edu	37	chr9	70871889	70871889	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaattagggagtgatatttaCcttgatggtaagttaaaaaa	16	13	10	2	0	0	2	0	2	0	0	0	4	0	3	1	2	1	2	1	2	8	7			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:70871889C>T	ENST00000360171.6	+	5	1034	c.483C>T	c.(481-483)taC>taT	p.Y161Y	CBWD3_ENST00000377342.5_Intron	NM_201453.2	NP_958861.2	Q5JTY5	CBWD3_HUMAN	COBW domain containing 3	161							ATP binding			kidney(1)|large_intestine(1)|lung(2)|prostate(1)	5				all cancers(8;0.00136)|Epithelial(8;0.0288)|GBM - Glioblastoma multiforme(74;0.0402)|OV - Ovarian serous cystadenocarcinoma(323;0.18)		GTGATATTTACCTTGATGGTA	0.294													T	70871889	C	T	70871889	2	4	732	1	0	0	0	0	0	0	0	1	2740	518	18	2		2	CBWD3	9	70871889	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		70871889	70341542	17	55707											
GALNT12	79695	broad.mit.edu	37	chr9	101608400	101608400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaatcagaagttcatcttgCaggaggtaggtgaactctct	12	11	11	7	0	4	3	2	1	2	2	5	4	4	4	0	3	2	3	0	3	4	3			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr9:101608400C>T	ENST00000375011.3	+	9	1600	c.1600C>T	c.(1600-1602)Cag>Tag	p.Q534*		NM_024642.4	NP_078918.3	Q8IXK2	GLT12_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 12 (GalNAc-T12)	534	Ricin B-type lectin.					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(1)|endometrium(2)|large_intestine(3)|lung(8)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	17		Acute lymphoblastic leukemia(62;0.0559)				GTTCATCTTGCAGGAGGTAGG	0.527													T	101608400	C	T	101608400	4	4	732	1	0	0	0	0	0	1	0	0	6264	711	25	2	1634	2	GALNT12	9	101608400	Nonsense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	30736511	101608400	39605031	18	55708											
HPS6	79803	broad.mit.edu	37	chr10	103825421	103825421	+	Frame_Shift_Del	DEL	G	G	-																															tagtcgcgtcgcgagggcccGgcgcggagctagagcgggcc																										TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr10:103825421delG	ENST00000299238.5	+	1	275	c.190delG	c.(190-192)ggcfs	p.G64fs		NM_024747.5	NP_079023.2	Q86YV9	HPS6_HUMAN	Hermansky-Pudlak syndrome 6	64						cytosol|early endosome membrane|endoplasmic reticulum|microsome				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)	11		Colorectal(252;0.122)		Epithelial(162;5.93e-08)|all cancers(201;1.03e-06)		GCGAGGGCCCGGCGCGGAGCT	0.761									Hermansky-Pudlak syndrome				-	103825421	G	-	103825421	7	5	732	1	0	1	0	1	0	0	0	0	7398	1116	39	0	192	0	HPS6	10	103825421	Frame_Shift_Del	DEL	G	TCGA-S9-A7R1-01A-12D-A34J-08		103825421	31709326	19	55709											
OR51E2	81285	broad.mit.edu	37	chr11	4703857	4703857	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tacatacatggaaaggagggGgaagccaacccagaaatggg	16	4	14	7	0	0	1	0	0	0	1	0	4	0	4	2	5	4	0	2	5	6	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:4703857G>A	ENST00000396950.3	-	2	324	c.85C>T	c.(85-87)Ccc>Tcc	p.P29S		NM_030774.3	NP_110401.1	Q9H255	O51E2_HUMAN	olfactory receptor, family 51, subfamily E, member 2	29					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(12)|ovary(2)|prostate(1)|skin(3)	23		Medulloblastoma(188;0.0075)|Breast(177;0.0461)|all_neural(188;0.0577)		Epithelial(150;3e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00476)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAAAGGAGGGGGAAGCCAACC	0.498													A	4703857	G	A	4703857	3	1	732	1	0	0	0	0	1	0	0	0	11171	1232	43	2	881	2	OR51E2	11	4703857	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		4703857	130302659	20	55710											
FOLR1	2348	broad.mit.edu	37	chr11	71906326	71906326	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cccatccagtgtcgaccctgGaggaagaatgcctgctgttc	8	9	11	13	1	0	1	0	0	0	1	3	4	1	3	4	2	2	2	4	2	2	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr11:71906326G>A	ENST00000393679.1	+	3	616	c.180G>A	c.(178-180)tgG>tgA	p.W60*	FOLR1_ENST00000393676.3_Nonsense_Mutation_p.W60*|RP11-807H22.7_ENST00000378140.3_RNA|FOLR1_ENST00000393681.2_Nonsense_Mutation_p.W60*|FOLR1_ENST00000312293.4_Nonsense_Mutation_p.W60*			P15328	FOLR1_HUMAN	folate receptor 1 (adult)	60					cell death|folic acid transport|receptor-mediated endocytosis	anchored to membrane|extracellular region|integral to plasma membrane|membrane fraction	folic acid binding|receptor activity			cervix(2)|endometrium(1)|large_intestine(7)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	14						GTCGACCCTGGAGGAAGAATG	0.527													A	71906326	G	A	71906326	4	1	732	1	0	0	0	0	0	1	0	0	6030	1183	41	2	186	2	FOLR1	11	71906326	Nonsense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	67202469	71906326	63100190	21	55711											
MTUS2	23281	broad.mit.edu	37	chr13	29855958	29855958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctccagtgtgacagcaccccGcaggagtttacttccagcgc	8	8	10	15	2	0	1	0	1	0	0	2	2	2	2	4	1	3	3	4	1	1	3			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr13:29855958G>A	ENST00000431530.3	+	4	2850	c.2792G>A	c.(2791-2793)cGc>cAc	p.R931H		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	921	Localization to the growing distal tip of microtubules.|Mediates interaction with MAPRE1.					cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						ACAGCACCCCGCAGGAGTTTA	0.572													A	29855958	G	A	29855958	3	1	732	1	0	0	0	0	1	0	0	0	10042	1087	38	1	2806	1	MTUS2	13	29855958	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		29855958	85313920	22	55712											
SEL1L	6400	broad.mit.edu	37	chr14	81945999	81945999	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaatagacgacgcccaatTtgcagagggctaggaagact	15	6	12	8	2	0	4	0	0	0	4	0	6	0	5	1	2	1	2	1	2	5	3			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr14:81945999T>C	ENST00000336735.4	-	20	2248	c.2132A>G	c.(2131-2133)aAa>aGa	p.K711R		NM_005065.5	NP_005056.3	Q9UBV2	SE1L1_HUMAN	sel-1 suppressor of lin-12-like (C. elegans)	711	Interaction with ERLEC1, OS9 and SYVN1.				Notch signaling pathway	endoplasmic reticulum membrane|integral to membrane	protein binding			breast(2)|central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|urinary_tract(3)	28				BRCA - Breast invasive adenocarcinoma(234;0.0299)		GACGCCCAATTTGCAGAGGGC	0.433													C	81945999	T	C	81945999	3	2	732	1	0	0	0	0	1	0	0	0	14103	1841	64	3	260	3	SEL1L	14	81945999	Missense_Mutation	SNP	T	TCGA-S9-A7R1-01A-12D-A34J-08		81945999	25403541	23	55713											
BLM	641	broad.mit.edu	37	chr15	91310185	91310185	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ataagactgactcagaagctAcaaatatttacctccagtta	16	11	5	9	0	1	3	1	1	0	2	2	3	2	3	2	0	3	2	2	0	7	6			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr15:91310185A>G	ENST00000355112.3	+	10	2357	c.2239A>G	c.(2239-2241)Aca>Gca	p.T747A	BLM_ENST00000560136.1_3'UTR|BLM_ENST00000560509.1_Missense_Mutation_p.T747A	NM_000057.2	NP_000048.1	P54132	BLM_HUMAN	Bloom syndrome, RecQ helicase-like	747	Helicase ATP-binding.				double-strand break repair via homologous recombination|G2 phase of mitotic cell cycle|G2/M transition DNA damage checkpoint|negative regulation of cell division|positive regulation of transcription, DNA-dependent|protein oligomerization|regulation of cyclin-dependent protein kinase activity|replication fork processing|replication fork protection|response to X-ray	cytoplasm|lateral element|nuclear matrix|nucleolus|PML body	ATP binding|bubble DNA binding|DNA strand annealing activity|four-way junction helicase activity|G-quadruplex DNA binding|p53 binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(11)|liver(4)|lung(9)|ovary(6)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(78;0.0875)|all_lung(78;0.109)		Lung(145;0.189)			CTCAGAAGCTACAAATATTTA	0.269			"Mis, N, F"			"leukemia, lymphoma, skin squamous cell , other cancers"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Bloom syndrome				G	91310185	A	G	91310185	3	3	732	1	0	0	0	0	1	0	0	0	1451	391	14	3	2273	3	BLM	15	91310185	Missense_Mutation	SNP	A	TCGA-S9-A7R1-01A-12D-A34J-08		91310185	11221207	24	55714											
ZNF597	146434	broad.mit.edu	37	chr16	3486744	3486744	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcagcgttcagagtcctcgtCgtggctcttctcggaaaggg	6	10	14	11	4	3	1	1	0	2	1	7	2	4	2	1	3	1	3	1	3	1	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:3486744C>T	ENST00000301744.4	-	4	1190	c.955G>A	c.(955-957)Gac>Aac	p.D319N		NM_152457.1	NP_689670.1	Q96LX8	ZN597_HUMAN	zinc finger protein 597	319					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	13						GAGTCCTCGTCGTGGCTCTTC	0.502													T	3486744	C	T	3486744	3	4	732	1	0	0	0	0	1	0	0	0	18128	884	31	1	323	1	ZNF597	16	3486744	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		3486744	86868009	25	55715											
PKD1L2	114780	broad.mit.edu	37	chr16	81222525	81222525	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	taactccttgtcattgtctgGccagcccagggtcactgtcg	6	12	10	13	1	3	0	2	0	1	0	5	0	4	0	3	2	2	0	3	2	1	3			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr16:81222525G>A	ENST00000337114.4	-	0	1749				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TCATTGTCTGGCCAGCCCAGG	0.428													A	81222525	G	A	81222525	1	1	732	0	1	0	0	0	0	0	0	0	12042	1203	42	2		2	PKD1L2	16	81222525	RNA	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08	77735781	81222525	9132228	26	55716											
UTP6	55813	broad.mit.edu	37	chr17	30207649	30207649	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagcacctctcctccttccGgccgacctccactgctttgg	5	10	7	19	2	1	0	0	0	1	0	5	1	4	0	7	2	2	2	7	2	0	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr17:30207649G>A	ENST00000261708.4	-	11	1047	c.910C>T	c.(910-912)Cgg>Tgg	p.R304W	CTC-542B22.2_ENST00000583236.1_lincRNA	NM_018428.2	NP_060898.2	Q9NYH9	UTP6_HUMAN	UTP6, small subunit (SSU) processome component, homolog (yeast)	304					rRNA processing	nucleolus	binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|skin(1)	21		all_hematologic(16;0.0149)|Ovarian(249;0.021)|Myeloproliferative disorder(56;0.0255)|Acute lymphoblastic leukemia(14;0.0257)|Breast(31;0.231)				TCCTCCTTCCGGCCGACCTCC	0.488													A	30207649	G	A	30207649	3	1	732	1	0	0	0	0	1	0	0	0	17204	1115	39	1	919	1	UTP6	17	30207649	Missense_Mutation	SNP	G	TCGA-S9-A7R1-01A-12D-A34J-08		30207649	50987561	27	55717											
SLC2A11	66035	broad.mit.edu	37	chr22	24217412	24217412	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atcatgctgggaagactgctCgtgggagtcaatgcaggtat	10	10	14	7	1	2	1	2	0	0	1	3	3	2	3	0	3	3	4	0	3	3	1			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chr22:24217412C>T	ENST00000345044.6	+	4	658	c.390C>T	c.(388-390)ctC>ctT	p.L130L	SLC2A11_ENST00000398356.2_Silent_p.L137L|SLC2A11_ENST00000316185.8_Silent_p.L133L|SLC2A11_ENST00000467660.1_3'UTR|SLC2A11_ENST00000405847.1_Silent_p.L130L|AP000350.10_ENST00000433835.3_Silent_p.L95L			Q9BYW1	GTR11_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 11	130						integral to membrane|plasma membrane	sugar transmembrane transporter activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)|skin(2)	12						GAAGACTGCTCGTGGGAGTCA	0.448													T	24217412	C	T	24217412	2	4	732	1	0	0	0	0	0	0	0	1	14634	871	31	1		1	SLC2A11	22	24217412	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		24217412	27087154	28	55718											
PTCHD1	139411	broad.mit.edu	37	chrX	23398114	23398114	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaaaatgtacccttacaCgtcctcctcactgagggaag	12	9	8	12	1	2	1	2	1	0	0	4	2	4	2	3	1	2	1	3	1	5	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:23398114C>T	ENST00000379361.4	+	2	1618	c.758C>T	c.(757-759)aCg>aTg	p.T253M		NM_173495.2	NP_775766.2	Q96NR3	PTHD1_HUMAN	patched domain containing 1	253					cognition|smoothened signaling pathway	integral to membrane|plasma membrane	hedgehog receptor activity			NS(1)|breast(4)|endometrium(3)|kidney(3)|large_intestine(9)|lung(14)|ovary(4)|skin(2)|urinary_tract(2)	42						TACCCTTACACGTCCTCCTCA	0.507													T	23398114	C	T	23398114	3	4	732	1	0	0	0	0	1	0	0	0	12817	536	19	1	764	1	PTCHD1	23	23398114	Missense_Mutation	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08		23398114	131872446	29	55719											
SSX5	6758	broad.mit.edu	37	chrX	48053653	48053653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaaaggtgggagggtggcCttgaaacctagaaagaagca	15	6	15	5	0	0	4	0	2	0	2	0	5	0	5	2	4	2	1	2	4	5	2			TCGA-S9-A7R1-01A-12D-A34J-08	TCGA-S9-A7R1-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6f8e448f-42f5-4726-8381-26b02990f188	943aa030-fbfc-48ce-a854-5f16cdea9290	g.chrX:48053653C>T	ENST00000311798.1	-	5	367	c.315G>A	c.(313-315)aaG>aaA	p.K105K	SSX5_ENST00000347757.1_Silent_p.K64K|SSX5_ENST00000376923.1_Silent_p.K64K	NM_021015.3	NP_066295.3	O60225	SSX5_HUMAN	synovial sarcoma, X breakpoint 5	64					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding			endometrium(3)|kidney(1)|large_intestine(6)|lung(7)|skin(1)	18						GGAGGGTGGCCTTGAAACCTA	0.473													T	48053653	C	T	48053653	2	4	732	1	0	0	0	0	0	0	0	1	15304	680	24	2		2	SSX5	23	48053653	Silent	SNP	C	TCGA-S9-A7R1-01A-12D-A34J-08	24655539	48053653	107216907	30	55720											
LRRC7	57554	broad.mit.edu	37	chr1	70488940	70488940	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caagatatgcccgtcccccaGaatgacccacagctggcatg	11	6	9	15	1	0	3	0	1	0	2	1	3	1	3	4	1	2	2	4	1	3	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:70488940G>T	ENST00000310961.5	+	18	1996	c.1578G>T	c.(1576-1578)caG>caT	p.Q526H	LRRC7_ENST00000415775.2_Intron|RP11-181B18.1_ENST00000414132.1_RNA|LRRC7_ENST00000035383.5_Missense_Mutation_p.Q521H			Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	521						centrosome|focal adhesion|nucleolus	protein binding			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						CCGTCCCCCAGAATGACCCAC	0.562													T	70488940	G	T	70488940	3	4	733	1	0	0	0	0	1	0	0	0	9090	933	33	4	1621	4	LRRC7	1	70488940	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		70488940	178761681	1	55721											
FLG	2312	broad.mit.edu	37	chr1	152281967	152281967	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgagtgcctggagctgtCtcgtgcctgctcgtggcggg	2	10	17	12	4	1	1	0	1	1	0	3	2	1	2	2	3	4	3	2	3	0	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:152281967C>A	ENST00000368799.1	-	3	5430	c.5395G>T	c.(5395-5397)Gac>Tac	p.D1799Y	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1799	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGAGCTGTCTCGTGCCTGC	0.602									Ichthyosis				A	152281967	C	A	152281967	3	1	733	1	0	0	0	0	1	0	0	0	5971	913	32	4	6794	4	FLG	1	152281967	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	81793027	152281967	96968654	2	55722											
PTPN14	5784	broad.mit.edu	37	chr1	214556732	214556732	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggtctctccttcacaggctcTtttttgacccgctccttcac	4	15	6	16	1	4	1	2	1	2	0	7	1	6	1	3	2	0	2	3	2	0	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr1:214556732T>A	ENST00000366956.5	-	13	2660	c.2466A>T	c.(2464-2466)aaA>aaT	p.K822N	PTPN14_ENST00000543945.1_3'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14	822					lymphangiogenesis	cytoplasm|cytoskeleton	protein tyrosine phosphatase activity|receptor tyrosine kinase binding			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		TCACAGGCTCTTTTTTGACCC	0.552													A	214556732	T	A	214556732	3	1	733	1	0	0	0	0	1	0	0	0	12869	1606	56	5	1125	5	PTPN14	1	214556732	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	62274765	214556732	34693889	3	55723											
LTBP1	4052	broad.mit.edu	37	chr2	33412100	33412100	+	Nonsense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggggacgcatgtcatccattCaacacataccttgcctctga	10	10	8	13	1	3	1	2	1	1	0	4	2	4	2	3	2	3	1	3	2	2	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:33412100C>G	ENST00000404816.2	+	6	1732	c.1379C>G	c.(1378-1380)tCa>tGa	p.S460*	LTBP1_ENST00000418533.2_Nonsense_Mutation_p.S134*|LTBP1_ENST00000390003.4_Nonsense_Mutation_p.S134*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000404525.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000402934.1_Nonsense_Mutation_p.S134*|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.S460*			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	460					negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta	proteinaceous extracellular matrix	calcium ion binding|growth factor binding|transforming growth factor beta receptor activity			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				GTCATCCATTCAACACATACC	0.512													G	33412100	C	G	33412100	4	3	733	1	0	0	0	0	0	1	0	0	9143	838	29	4	1456	4	LTBP1	2	33412100	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		33412100	209787273	4	55724											
IL18RAP	8807	broad.mit.edu	37	chr2	103061723	103061723	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtcactcagcgtgatcttcGcaggaagtttgtttgctttg	7	15	11	8	2	3	1	2	1	1	0	4	2	3	2	0	1	2	4	0	1	1	4			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr2:103061723G>A	ENST00000264260.2	+	9	1584	c.995G>A	c.(994-996)cGc>cAc	p.R332H	IL18RAP_ENST00000409369.1_Missense_Mutation_p.R190H	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	332	Ig-like C2-type 2.				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CGTGATCTTCGCAGGAAGTTT	0.423													A	103061723	G	A	103061723	3	1	733	1	0	0	0	0	1	0	0	0	7706	1087	38	1	1021	1	IL18RAP	2	103061723	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	69649623	103061723	140137650	5	55725											
EPM2AIP1	9852	broad.mit.edu	37	chr3	37032873	37032873	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	actcaaagtgtgttggtttcGagtcaaatatgaaaaagcct	14	12	9	6	1	2	1	2	1	0	0	3	2	2	1	1	1	1	2	1	1	5	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:37032873G>A	ENST00000322716.5	-	1	1922	c.1696C>T	c.(1696-1698)Cga>Tga	p.R566*		NM_014805.3	NP_055620.1	Q7L775	EPMIP_HUMAN	EPM2A (laforin) interacting protein 1	566						endoplasmic reticulum				breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(1)|lung(12)|ovary(2)	27						TGTTGGTTTCGAGTCAAATAT	0.453													A	37032873	G	A	37032873	4	1	733	1	0	0	0	0	0	1	0	0	5225	1066	37	1	131	1	EPM2AIP1	3	37032873	Nonsense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		37032873	160989557	6	55726											
FSTL1	11167	broad.mit.edu	37	chr3	120123741	120123741	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggtctggatacgttgtaatAttgatggcagtttcattctg	8	17	11	5	1	3	1	1	1	2	0	3	2	3	2	0	3	1	4	0	3	3	7			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr3:120123741A>G	ENST00000295633.3	-	7	896	c.540T>C	c.(538-540)aaT>aaC	p.N180N	FSTL1_ENST00000424703.2_Silent_p.N145N	NM_007085.4	NP_009016.1	Q12841	FSTL1_HUMAN	follistatin-like 1	180					BMP signaling pathway	extracellular space	calcium ion binding|heparin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|skin(1)	20				GBM - Glioblastoma multiforme(114;0.189)		ACGTTGTAATATTGATGGCAG	0.453													G	120123741	A	G	120123741	2	3	733	1	0	0	0	0	0	0	0	1	6129	446	16	3		3	FSTL1	3	120123741	Silent	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	83090868	120123741	77898689	7	55727											
UGT2A1	10941	broad.mit.edu	37	chr4	70460268	70460268	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtttaggttcacttccaCagctgctcctttggccttca	5	16	8	12	0	2	0	2	0	0	0	4	0	4	0	3	2	2	4	3	2	1	6			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:70460268C>A	ENST00000503640.1	-	5	1286	c.1231G>T	c.(1231-1233)Gtg>Ttg	p.V411L	UGT2A1_ENST00000502343.1_5'UTR|UGT2A2_ENST00000457664.2_Missense_Mutation_p.V420L|UGT2A1_ENST00000514019.1_Missense_Mutation_p.V577L|UGT2A1_ENST00000512704.1_Missense_Mutation_p.V367L|UGT2A1_ENST00000286604.4_Missense_Mutation_p.V411L	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	411					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTCACTTCCACAGCTGCTCCT	0.443													A	70460268	C	A	70460268	3	1	733	1	0	0	0	0	1	0	0	0	17055	478	17	4	360	4	UGT2A1	4	70460268	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		70460268	120694008	8	55728											
CSN3	1448	broad.mit.edu	37	chr4	71114860	71114860	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taataatccatatgtgcctcGcacatattatgcaaacccag	14	11	5	11	1	0	0	0	0	0	0	2	0	1	0	3	0	3	2	3	0	6	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:71114860G>A	ENST00000304954.3	+	4	319	c.233G>A	c.(232-234)cGc>cAc	p.R78H		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	78						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TATGTGCCTCGCACATATTAT	0.448													A	71114860	G	A	71114860	3	1	733	1	0	0	0	0	1	0	0	0	3982	1087	38	1	243	1	CSN3	4	71114860	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	654592	71114860	120039416	9	55729											
KIAA1109	84162	broad.mit.edu	37	chr4	123151111	123151111	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcaattcgagttgcaaactGtaatctccacaatcaatcgg	13	11	7	10	2	2	0	1	0	1	0	5	1	2	0	1	1	3	4	1	1	5	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:123151111G>A	ENST00000264501.4	+	26	3441	c.3068G>A	c.(3067-3069)tGt>tAt	p.C1023Y	KIAA1109_ENST00000388738.3_Missense_Mutation_p.C1023Y|KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.C1023Y			Q2LD37	K1109_HUMAN	KIAA1109	1023					regulation of cell growth|regulation of epithelial cell differentiation	integral to membrane|nucleus				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						GTTGCAAACTGTAATCTCCAC	0.343													A	123151111	G	A	123151111	3	1	733	1	0	0	0	0	1	0	0	0	8266	1377	48	2	3162	2	KIAA1109	4	123151111	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	52036251	123151111	68003165	10	55730											
CDKN2AIP	55602	broad.mit.edu	37	chr4	184367380	184367380	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agttcaacgtgtatagggtcGgccatcaaatcagagagtgg	12	9	13	7	2	3	1	3	0	0	1	4	2	3	1	1	3	1	2	1	3	4	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr4:184367380G>A	ENST00000504169.1	+	3	750	c.543G>A	c.(541-543)tcG>tcA	p.S181S	CDKN2AIP_ENST00000302350.4_3'UTR|CDKN2AIP_ENST00000506835.1_3'UTR	NM_017632.2	NP_060102.1	Q9NXV6	CARF_HUMAN	CDKN2A interacting protein	181	Ser-rich.				negative regulation of cell growth|positive regulation of signal transduction|regulation of protein stability	granular component|nucleoplasm	double-stranded RNA binding|p53 binding			endometrium(1)|kidney(2)|large_intestine(2)|lung(1)	6		all_lung(41;6.9e-12)|Lung NSC(41;1.28e-11)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|all_hematologic(60;0.0749)		all cancers(43;1.15e-26)|Epithelial(43;2.98e-22)|OV - Ovarian serous cystadenocarcinoma(60;7.64e-10)|GBM - Glioblastoma multiforme(59;4.22e-06)|Colorectal(24;5.87e-06)|STAD - Stomach adenocarcinoma(60;2.09e-05)|COAD - Colon adenocarcinoma(29;5.15e-05)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)		GTATAGGGTCGGCCATCAAAT	0.483													A	184367380	G	A	184367380	2	1	733	1	0	0	0	0	0	0	0	1	3192	1103	39	1		1	CDKN2AIP	4	184367380	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	61216269	184367380	6786896	11	55731											
KIAA0947	23379	broad.mit.edu	37	chr5	5463794	5463794	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gacattcctggagacatcccTatttctcaggatcaaggaga	12	10	9	10	0	2	2	2	0	1	2	5	6	4	3	2	3	0	0	2	3	2	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:5463794T>A	ENST00000296564.7	+	13	4569	c.4347T>A	c.(4345-4347)ccT>ccA	p.P1449P		NM_015325.2	NP_056140.1	Q9Y2F5	K0947_HUMAN	KIAA0947	1449										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|upper_aerodigestive_tract(1)	35						GAGACATCCCTATTTCTCAGG	0.522													A	5463794	T	A	5463794	2	1	733	1	0	0	0	0	0	0	0	1	8260	1509	53	5		5	KIAA0947	5	5463794	Silent	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08		5463794	175451466	12	55732											
EMB	133418	broad.mit.edu	37	chr5	49723994	49723994	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttaccagtcagtgatatgttAtgactctccaaggaaaagtt	13	13	8	7	0	2	2	1	2	1	0	3	3	2	3	2	1	1	2	2	1	6	4			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr5:49723994A>T	ENST00000303221.5	-	2	395	c.180T>A	c.(178-180)caT>caA	p.H60Q	EMB_ENST00000508934.1_Missense_Mutation_p.H60Q|EMB_ENST00000506190.1_5'UTR|EMB_ENST00000514111.1_Missense_Mutation_p.H10Q	NM_198449.2	NP_940851.1	Q6PCB8	EMB_HUMAN	embigin	60						integral to membrane				breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(2)	15	Lung SC(58;0.218)	Lung NSC(810;0.0795)				GTGATATGTTATGACTCTCCA	0.328													T	49723994	A	T	49723994	3	4	733	1	0	0	0	0	1	0	0	0	5126	446	16	5	835	5	EMB	5	49723994	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	44260200	49723994	131191266	13	55733											
ATF6B	1388	broad.mit.edu	37	chr6	32089121	32089121	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	acaggttctatcttggtctgGacatctgtgggaggcaggat	8	12	14	7	0	4	0	0	0	4	0	4	3	4	3	0	6	0	2	0	6	1	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:32089121G>C	ENST00000375201.4	-	6	519	c.474C>G	c.(472-474)gtC>gtG	p.V158V	ATF6B_ENST00000375203.3_Silent_p.V161V			Q99941	ATF6B_HUMAN	activating transcription factor 6 beta	161					response to unfolded protein|signal transduction	endoplasmic reticulum membrane|integral to membrane|nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(1)|urinary_tract(1)	22						TCTTGGTCTGGACATCTGTGG	0.547													C	32089121	G	C	32089121	2	2	733	1	0	0	0	0	0	0	0	1	1090	1161	41	4		4	ATF6B	6	32089121	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		32089121	139025946	14	55734											
IL17F	112744	broad.mit.edu	37	chr6	52101833	52101833	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccttggtgcttcctccggaCgaccagggtctcttgctgga	4	11	13	13	2	1	0	0	0	1	0	4	3	3	2	4	4	2	2	4	4	0	3	rs141798304	byFrequency	TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:52101833C>T	ENST00000336123.4	-	3	495	c.388G>A	c.(388-390)Gtc>Atc	p.V130I		NM_052872.3	NP_443104.1	Q96PD4	IL17F_HUMAN	interleukin 17F	130					cartilage development|inflammatory response|lymphotoxin A biosynthetic process|negative regulation of angiogenesis|proteoglycan metabolic process|regulation of granulocyte macrophage colony-stimulating factor biosynthetic process|regulation of interleukin-2 biosynthetic process|regulation of interleukin-6 biosynthetic process|regulation of interleukin-8 biosynthetic process|regulation of transforming growth factor beta receptor signaling pathway	extracellular space	cytokine activity|cytokine binding|protein homodimerization activity			NS(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)	14	Lung NSC(77;0.116)					TTCCTCCGGACGACCAGGGTC	0.542													T	52101833	C	T	52101833	3	4	733	1	0	0	0	0	1	0	0	0	7696	536	19	1	107	1	IL17F	6	52101833	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	20012712	52101833	119013234	15	55735											
HMGCLL1	54511	broad.mit.edu	37	chr6	55406633	55406633	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatatctgtaggaactataAcctatgaaaacaaaaaatat	20	12	4	5	0	1	1	0	1	1	0	1	2	1	2	1	1	3	1	1	1	13	7			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:55406633A>G	ENST00000398661.2	-	4	412	c.281T>C	c.(280-282)gTt>gCt	p.V94A	HMGCLL1_ENST00000370850.2_Splice_Site_p.V64A|HMGCLL1_ENST00000428842.1_Splice_Site_p.V64A|HMGCLL1_ENST00000274901.4_Splice_Site_p.V64A|HMGCLL1_ENST00000508459.1_Splice_Site_p.V64A|HMGCLL1_ENST00000308161.4_Splice_Site_p.V64A	NM_019036.2	NP_061909.2	Q8TB92	HMGC2_HUMAN	3-hydroxymethyl-3-methylglutaryl-CoA lyase-like 1	94							hydroxymethylglutaryl-CoA lyase activity|metal ion binding			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31	Lung NSC(77;0.0875)		LUSC - Lung squamous cell carcinoma(124;0.23)			AGGAACTATAACCTATGAAAA	0.294													G	55406633	A	G	55406633	5	3	733	1	0	0	0	0	0	0	1	0	7285	57	2	3	859	3	HMGCLL1	6	55406633	Splice_Site	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	3304800	55406633	115708434	16	55736											
EPB41L2	2037	broad.mit.edu	37	chr6	131211436	131211436	+	Missense_Mutation	SNP	C	C	G																															tatcataaatgtgtttacctCcatctagactcctggagacc																										TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211436C>G	ENST00000337057.3	-	11	1839	c.1658G>C	c.(1657-1659)gGa>gCa	p.G553A	EPB41L2_ENST00000392427.3_Missense_Mutation_p.G553A|EPB41L2_ENST00000368128.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000445890.2_Missense_Mutation_p.G553A|EPB41L2_ENST00000527411.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000525193.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000527659.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000528282.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000529208.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000525271.1_Missense_Mutation_p.G553A|EPB41L2_ENST00000530481.1_Missense_Mutation_p.G553A	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	553	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		GTGTTTACCTCCATCTAGACT	0.448													G	131211436	C	G	131211436	3	3	733	1	0	0	0	0	1	0	0	0	5194	855	30	4	1395	4	EPB41L2	6	131211436	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	75804803	131211436	39903631	17	55737	175	2									
EPB41L2	2037	broad.mit.edu	37	chr6	131211445	131211445	+	Missense_Mutation	SNP	C	C	T																															tgtgtttacctccatctagaCtcctggagacccgtttacta																										TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211445C>T	ENST00000337057.3	-	11	1830	c.1649G>A	c.(1648-1650)aGt>aAt	p.S550N	EPB41L2_ENST00000392427.3_Missense_Mutation_p.S550N|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S550N|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S550N|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S550N	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	550	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TCCATCTAGACTCCTGGAGAC	0.453													T	131211445	C	T	131211445	3	4	733	1	0	0	0	0	1	0	0	0	5194	565	20	2	1404	2	EPB41L2	6	131211445	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	9	131211445	39903622	18	55738	175	2									
EPB41L2	2037	broad.mit.edu	37	chr6	131211508	131211508	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggcctatctatgagggtgCtggcctggcgggtctgtgct	3	12	16	10	1	2	1	0	1	2	0	2	1	2	1	2	5	2	2	2	5	2	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr6:131211508C>G	ENST00000337057.3	-	11	1767	c.1586G>C	c.(1585-1587)aGc>aCc	p.S529T	EPB41L2_ENST00000392427.3_Missense_Mutation_p.S529T|EPB41L2_ENST00000368128.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000445890.2_Missense_Mutation_p.S529T|EPB41L2_ENST00000527411.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000525193.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000527659.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000528282.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000529208.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000525271.1_Missense_Mutation_p.S529T|EPB41L2_ENST00000530481.1_Missense_Mutation_p.S529T	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	529	Hydrophilic.				cortical actin cytoskeleton organization	extrinsic to membrane|plasma membrane|spectrin	actin binding|structural molecule activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		TATGAGGGTGCTGGCCTGGCG	0.507													G	131211508	C	G	131211508	3	3	733	1	0	0	0	0	1	0	0	0	5194	797	28	4	1467	4	EPB41L2	6	131211508	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	63	131211508	39903559	19	55739											
TNRC18	84629	broad.mit.edu	37	chr7	5430008	5430011	+	Frame_Shift_Del	DEL	AAAG	AAAG	-																															tcaaaaaaaaaaaaaaaaaaAaagccagcatcctggacaga																								rs34840801		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:5430008_5430011delAAAG	ENST00000399434.2	-	3	528_531	c.370_373delCTTT	c.(370-375)ctttttfs	p.LF124fs	TNRC18_ENST00000399537.4_Intron|TNRC18_ENST00000430969.1_Intron			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	0							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		aaaaaaaaaaaaaGCCAGCATCCT	0.544													-	5430011	AAAG	-	5430008	7	5	733	1	0	1	0	1	0	0	0	0	16439	29	1	0		0	TNRC18	7	5430008	Frame_Shift_Del	DEL	AAAG	TCGA-S9-A7R2-01A-21D-A34J-08		5430008	153708655	20	55740											
CDCA7L	55536	broad.mit.edu	37	chr7	21948089	21948089	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcttcctcgctcaccaaagAtgctttgccatcatcactca	9	12	4	16	1	5	1	4	0	1	1	7	1	6	1	3	0	2	2	3	0	1	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:21948089A>C	ENST00000406877.3	-	4	619	c.340T>G	c.(340-342)Tct>Gct	p.S114A	CDCA7L_ENST00000465490.1_5'UTR|CDCA7L_ENST00000373934.4_Missense_Mutation_p.S68A|CDCA7L_ENST00000356195.5_Missense_Mutation_p.S80A	NM_018719.4	NP_061189.2	Q96GN5	CDA7L_HUMAN	cell division cycle associated 7-like	114	PSIP1-binding.				positive regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(1)|urinary_tract(1)	29						CTCACCAAAGATGCTTTGCCA	0.418													C	21948089	A	C	21948089	3	2	733	1	0	0	0	0	1	0	0	0	3121	333	12	5	1052	5	CDCA7L	7	21948089	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	16518081	21948089	137190574	21	55741											
HECW1	23072	broad.mit.edu	37	chr7	43591856	43591856	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggtgtccgtgtttgatgcCagggagctggagctggtgat	5	12	17	7	1	0	2	0	2	0	0	1	4	1	4	2	4	3	3	2	4	0	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:43591856C>T	ENST00000395891.2	+	28	5036	c.4431C>T	c.(4429-4431)gcC>gcT	p.A1477A	HECW1_ENST00000453890.1_Silent_p.A1443A	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		HECT.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						TGTTTGATGCCAGGGAGCTGG	0.517													T	43591856	C	T	43591856	2	4	733	1	0	0	0	0	0	0	0	1	7097	581	21	2		2	HECW1	7	43591856	Silent	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	21643767	43591856	115546807	22	55742											
EGFR	1956	broad.mit.edu	37	chr7	55210075	55210075	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caataactgtgaggtggtccTtgggaatttggaaattacct	11	13	11	6	0	0	1	0	1	0	0	1	3	1	3	2	4	2	0	2	4	5	4			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:55210075T>G	ENST00000275493.2	+	2	362	c.185T>G	c.(184-186)cTt>cGt	p.L62R	EGFR_ENST00000442591.1_Missense_Mutation_p.L62R|EGFR_ENST00000344576.2_Missense_Mutation_p.L62R|EGFR_ENST00000454757.2_Missense_Mutation_p.L9R|EGFR_ENST00000455089.1_Missense_Mutation_p.L62R|EGFR_ENST00000342916.3_Missense_Mutation_p.L62R|EGFR_ENST00000420316.2_Missense_Mutation_p.L62R	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	62					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.L62R(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	GAGGTGGTCCTTGGGAATTTG	0.408		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			G	55210075	T	G	55210075	3	3	733	1	0	0	0	0	1	0	0	0	5006	1609	56	5	191	5	EGFR	7	55210075	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	11618219	55210075	103928588	23	55743											
ZNF479	90827	broad.mit.edu	37	chr7	57194409	57194409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaattctatagctatgtctCtgaatgtcaacagtccctgg	11	13	8	9	0	3	2	1	1	2	1	5	2	4	2	1	1	2	1	1	1	6	4			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:57194409C>G	ENST00000331162.4	-	3	326	c.56G>C	c.(55-57)aGa>aCa	p.R19T		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	19	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			AGCTATGTCTCTGAATGTCAA	0.413													G	57194409	C	G	57194409	3	3	733	1	0	0	0	0	1	0	0	0	18034	913	32	4	1530	4	ZNF479	7	57194409	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	1984334	57194409	101944254	24	55744											
ZAN	7455	broad.mit.edu	37	chr7	100349693	100349693	+	RNA	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atttccacagaaaaacccacCgtccccacagaagagcccac	15	4	5	17	1	0	3	0	0	0	3	2	3	2	3	6	0	2	0	6	0	3	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100349693C>T	ENST00000542585.1	+	0	2113				ZAN_ENST00000546292.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000443370.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			AAAAACCCACCGTCCCCACAG	0.517													T	100349693	C	T	100349693	1	4	733	0	1	0	0	0	0	0	0	0	17615	639	23	1		1	ZAN	7	100349693	RNA	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	43155284	100349693	58788970	25	55745											
MUC17	140453	broad.mit.edu	37	chr7	100678561	100678561	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agtatacctgtcagcaccacGctggtgaccagtcctgaggc	9	8	11	13	1	1	2	1	2	0	0	2	2	2	2	4	2	2	3	4	2	2	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:100678561G>T	ENST00000306151.4	+	3	3928	c.3864G>T	c.(3862-3864)acG>acT	p.T1288T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1288	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.T1288T(1)		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)					TCAGCACCACGCTGGTGACCA	0.473													T	100678561	G	T	100678561	2	4	733	1	0	0	0	0	0	0	0	1	10050	1074	38	4		4	MUC17	7	100678561	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	328868	100678561	58460102	26	55746											
FAM71F2	346653	broad.mit.edu	37	chr7	128317737	128317737	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccacgaaaaacacccagagaTtgtgtttcaattctgggtcc	12	10	8	11	1	2	1	1	0	1	1	3	3	3	1	3	1	1	1	3	1	3	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr7:128317737T>C	ENST00000480462.1	+	3	591	c.485T>C	c.(484-486)aTt>aCt	p.I162T	FAM71F2_ENST00000460349.1_3'UTR|FAM71F2_ENST00000477515.1_Intron|FAM71F2_ENST00000378704.3_Missense_Mutation_p.I153T			Q6NXP2	F71F2_HUMAN	family with sequence similarity 71, member F2	162										NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(2)	7						CACCCAGAGATTGTGTTTCAA	0.507													C	128317737	T	C	128317737	3	2	733	1	0	0	0	0	1	0	0	0	5663	1493	52	3	495	3	FAM71F2	7	128317737	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	27639176	128317737	30820926	27	55747											
PCM1	5108	broad.mit.edu	37	chr8	17823519	17823519	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtgttaggtggaagaacaAttgccctttttcggcagatg	9	14	12	6	1	0	2	0	0	0	2	1	3	0	3	1	3	2	2	1	3	4	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:17823519A>G	ENST00000325083.8	+	19	3306	c.2867A>G	c.(2866-2868)aAt>aGt	p.N956S	PCM1_ENST00000519253.1_Missense_Mutation_p.N956S|PCM1_ENST00000524226.1_Missense_Mutation_p.N957S	NM_006197.3	NP_006188	Q15154	PCM1_HUMAN	pericentriolar material 1	956					centrosome organization|cilium assembly|G2/M transition of mitotic cell cycle|interkinetic nuclear migration|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome	centriolar satellite|cytosol|nuclear membrane|pericentriolar material	identical protein binding		PCM1/JAK2(30)	breast(4)|endometrium(8)|kidney(5)|large_intestine(16)|lung(11)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	48				Colorectal(111;0.0789)		TGGAAGAACAATTGCCCTTTT	0.388			T	"RET, JAK2"	"papillary thyroid, CML, MPD"								G	17823519	A	G	17823519	3	3	733	1	0	0	0	0	1	0	0	0	11660	101	4	3	2933	3	PCM1	8	17823519	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08		17823519	128540503	28	55748											
ADAM2	2515	broad.mit.edu	37	chr8	39645770	39645770	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatattaaatgaaacaaaaaTctaaaatagaaaacatacaa	27	8	2	4	0	1	2	0	1	1	1	1	2	1	2	0	0	3	0	0	0	14	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:39645770T>C	ENST00000265708.4	-	9	746	c.643A>G	c.(643-645)Att>Gtt	p.I215V	ADAM2_ENST00000347580.4_Splice_Site_p.I196V|ADAM2_ENST00000521880.1_Splice_Site_p.I215V|ADAM2_ENST00000379853.2_Intron	NM_001464.3	NP_001455.3	Q99965	ADAM2_HUMAN	ADAM metallopeptidase domain 2	215	Peptidase M12B.				cell adhesion|fusion of sperm to egg plasma membrane|proteolysis	integral to plasma membrane	integrin binding|metalloendopeptidase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(29)|ovary(3)|prostate(1)|skin(5)|urinary_tract(1)	53		all_cancers(7;2.38e-28)|all_epithelial(6;8.85e-21)|all_lung(54;1.24e-07)|Lung NSC(58;1.94e-07)|Hepatocellular(245;0.00745)|Breast(189;0.00908)|Renal(179;0.0183)|Colorectal(162;0.246)	LUSC - Lung squamous cell carcinoma(45;0.000149)	READ - Rectum adenocarcinoma(644;0.0689)|Kidney(114;0.162)		GAAACAAAAATCTAAAATAGA	0.239													C	39645770	T	C	39645770	5	2	733	1	0	0	0	0	0	0	1	0	241	1449	50	3	1612	3	ADAM2	8	39645770	Splice_Site	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08	21822251	39645770	106718252	29	55749											
RGS22	26166	broad.mit.edu	37	chr8	100990160	100990160	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacctttccagatttttcGtcttctaggactgccaattt	7	17	5	12	1	3	1	1	0	2	1	5	2	4	2	3	1	1	0	3	1	2	6			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr8:100990160G>A	ENST00000360863.6	-	23	3698	c.3504C>T	c.(3502-3504)gaC>gaT	p.D1168D	RGS22_ENST00000523287.1_Silent_p.D987D|RGS22_ENST00000523437.1_Silent_p.D1156D	NM_015668.3	NP_056483.3	Q8NE09	RGS22_HUMAN	regulator of G-protein signaling 22	1168					negative regulation of signal transduction	cytoplasm|plasma membrane	GTPase activator activity|signal transducer activity		RGS22/SYCP1(2)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(33)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	68			Epithelial(11;6.71e-08)|all cancers(13;4.19e-06)|OV - Ovarian serous cystadenocarcinoma(57;0.000469)|STAD - Stomach adenocarcinoma(118;0.169)			CAGATTTTTCGTCTTCTAGGA	0.303													A	100990160	G	A	100990160	2	1	733	1	0	0	0	0	0	0	0	1	13394	1136	40	1		1	RGS22	8	100990160	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	61344390	100990160	45373862	30	55750											
GRIN1	2902	broad.mit.edu	37	chr9	140040319	140040319	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agggccgggcggctcagaaaCgcctggagacgctgctggag	8	4	18	11	4	1	2	1	0	0	2	1	4	1	3	2	5	2	3	2	5	1	0			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr9:140040319C>T	ENST00000371561.3	+	3	1632	c.535C>T	c.(535-537)Cgc>Tgc	p.R179C	GRIN1_ENST00000315048.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371560.3_Missense_Mutation_p.R179C|GRIN1_ENST00000350902.5_Missense_Mutation_p.R179C|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371553.3_Missense_Mutation_p.R179C|GRIN1_ENST00000371559.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371555.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371546.4_Missense_Mutation_p.R179C|GRIN1_ENST00000371550.4_Missense_Mutation_p.R179C	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	179					ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)	GGCTCAGAAACGCCTGGAGAC	0.672													T	140040319	C	T	140040319	3	4	733	1	0	0	0	0	1	0	0	0	6833	536	19	1	545	1	GRIN1	9	140040319	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		140040319	1173112	31	55751											
OR4C6	219432	broad.mit.edu	37	chr11	55433374	55433374	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgcagctcccacctcacggtGgttgtattgttctttgtccc	4	15	9	13	1	2	0	1	0	1	0	4	0	4	0	3	2	2	5	3	2	1	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr11:55433374G>T	ENST00000314259.3	+	1	761	c.732G>T	c.(730-732)gtG>gtT	p.V244V		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	244					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						ACCTCACGGTGGTTGTATTGT	0.502													T	55433374	G	T	55433374	2	4	733	1	0	0	0	0	0	0	0	1	11128	1335	47	4		4	OR4C6	11	55433374	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		55433374	79573142	32	55752											
KRT2	3849	broad.mit.edu	37	chr12	53045508	53045508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtatcctccaggcccaaagCcaccaggaccccctaaacct	11	5	7	18	0	0	0	0	0	0	0	2	1	2	1	8	3	2	1	8	3	4	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:53045508C>T	ENST00000309680.3	-	1	440	c.419G>A	c.(418-420)gGc>gAc	p.G140D		NM_000423.2	NP_000414.2	P35908	K22E_HUMAN	keratin 2	140	Head.				keratinization|keratinocyte activation|keratinocyte migration|keratinocyte proliferation	Golgi apparatus|keratin filament	protein binding|structural constituent of cytoskeleton			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(18)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32				BRCA - Breast invasive adenocarcinoma(357;0.19)		AGGCCCAAAGCCACCAGGACC	0.592													T	53045508	C	T	53045508	3	4	733	1	0	0	0	0	1	0	0	0	8515	739	26	2	1536	2	KRT2	12	53045508	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		53045508	80806387	33	55753											
AGAP2	116986	broad.mit.edu	37	chr12	58135803	58135803	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttggccacctcatgtcGtctgacttctgctctcactg	4	14	8	15	1	4	1	2	1	3	0	6	1	4	1	2	1	2	2	2	1	0	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:58135803G>A	ENST00000257897.3	-	1	137	c.52C>T	c.(52-54)Cga>Tga	p.R18*	TSPAN31_ENST00000553221.1_Intron	NM_014770.3	NP_055585.1	Q99490	AGAP2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 2	0	Interaction with EPB41L1 (By similarity).				axon guidance|negative regulation of neuron apoptosis|negative regulation of protein catabolic process|protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	mitochondrion|nucleolus	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|large_intestine(7)|lung(20)|prostate(3)|skin(1)|stomach(1)	48						ACCTCATGTCGTCTGACTTCT	0.592													A	58135803	G	A	58135803	4	1	733	1	0	0	0	0	0	1	0	0	368	1153	40	1	3766	1	AGAP2	12	58135803	Nonsense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	5090295	58135803	75716092	34	55754											
NAA25	80018	broad.mit.edu	37	chr12	112499080	112499080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtacaagccaagtaacctcGtcagctgcaccacacacaaa	15	5	7	14	1	1	0	1	0	0	0	2	0	1	0	3	1	5	4	3	1	5	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr12:112499080G>A	ENST00000261745.4	-	12	1510	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M		NM_024953.3	NP_079229.2	Q14CX7	NAA25_HUMAN	N(alpha)-acetyltransferase 25, NatB auxiliary subunit	421						cytoplasm	protein binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(1)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(4)	46						AAGTAACCTCGTCAGCTGCAC	0.463													A	112499080	G	A	112499080	3	1	733	1	0	0	0	0	1	0	0	0	10197	1145	40	1	1708	1	NAA25	12	112499080	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	54363277	112499080	21352815	35	55755											
OR4K13	390433	broad.mit.edu	37	chr14	20502322	20502322	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcccactgtcagcaatgAccaggagctgtaggatgtag	11	7	14	9	0	1	1	1	1	0	0	1	4	1	4	2	3	3	4	2	3	3	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:20502322A>G	ENST00000315693.2	-	1	597	c.596T>C	c.(595-597)gTc>gCc	p.V199A		NM_001004714.1	NP_001004714.1	Q8NH42	OR4KD_HUMAN	olfactory receptor, family 4, subfamily K, member 13	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(3)|skin(4)	24	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTCAGCAATGACCAGGAGCTG	0.488													G	20502322	A	G	20502322	3	3	733	1	0	0	0	0	1	0	0	0	11144	275	10	3	320	3	OR4K13	14	20502322	Missense_Mutation	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08		20502322	86847218	36	55756											
RALGAPA1	253959	broad.mit.edu	37	chr14	36147303	36147303	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggactggggaagcactttCtgaacctgtaaatataattt	12	13	10	6	0	1	1	0	1	1	0	1	3	1	3	1	3	2	2	1	3	6	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:36147303C>A	ENST00000258840.6	-	22	3490	c.3100G>T	c.(3100-3102)Gaa>Taa	p.E1034*	RALGAPA1_ENST00000389698.3_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000307138.6_Nonsense_Mutation_p.E987*|RALGAPA1_ENST00000382366.3_Nonsense_Mutation_p.E1000*	NM_001283044.1	NP_001269973.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	987					activation of Ral GTPase activity	cytosol|mitochondrion|nucleus	protein heterodimerization activity|Ral GTPase activator activity			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GAAGCACTTTCTGAACCTGTA	0.373													A	36147303	C	A	36147303	4	1	733	1	0	0	0	0	0	1	0	0	13101	922	32	4	3384	4	RALGAPA1	14	36147303	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	15644981	36147303	71202237	37	55757											
SIPA1L1	26037	broad.mit.edu	37	chr14	72055540	72055540	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagatcttgaagataaccgAtcagaagactctgtcaggcc	13	9	9	10	1	5	5	3	1	2	4	5	6	5	5	2	1	1	0	2	1	3	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr14:72055540A>G	ENST00000555818.1	+	2	1299	c.951A>G	c.(949-951)cgA>cgG	p.R317R	SIPA1L1_ENST00000381232.3_Silent_p.R317R|SIPA1L1_ENST00000358550.2_Silent_p.R317R	NM_001284247.1|NM_015556.1	NP_001271176.1|NP_056371.1	O43166	SI1L1_HUMAN	signal-induced proliferation-associated 1 like 1	317					actin cytoskeleton reorganization|activation of Rap GTPase activity|regulation of dendritic spine morphogenesis	cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane|synaptosome	GTPase activator activity			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(1)|large_intestine(22)|liver(2)|lung(25)|ovary(3)|prostate(3)|skin(3)|stomach(1)	78				all cancers(60;0.00169)|BRCA - Breast invasive adenocarcinoma(234;0.00912)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)		AAGATAACCGATCAGAAGACT	0.413													G	72055540	A	G	72055540	2	3	733	1	0	0	0	0	0	0	0	1	14423	320	12	3		3	SIPA1L1	14	72055540	Silent	SNP	A	TCGA-S9-A7R2-01A-21D-A34J-08	35908237	72055540	35294000	38	55758											
CKMT1A	548596	broad.mit.edu	37	chr15	43990947	43990947	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatatttctaatttggacCgactaggcaaatcagaggtg	12	13	10	6	1	2	2	1	1	1	1	2	4	2	3	1	3	0	1	1	3	4	6	rs150214356		TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:43990947C>T	ENST00000413453.2	+	8	1644	c.1120C>T	c.(1120-1122)Cga>Tga	p.R374*	STRC_ENST00000541030.1_Intron|CKMT1A_ENST00000434505.1_Nonsense_Mutation_p.R374*			P12532	KCRU_HUMAN	creatine kinase, mitochondrial 1A	374	Phosphagen kinase C-terminal.				creatine metabolic process	mitochondrial inner membrane	ATP binding|creatine kinase activity			lung(4)	4		all_cancers(109;3.26e-15)|all_epithelial(112;1.48e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.56e-07)	Creatine(DB00148)	TAATTTGGACCGACTAGGCAA	0.502													T	43990947	C	T	43990947	4	4	733	1	0	0	0	0	0	1	0	0	3480	644	23	1	1150	1	CKMT1A	15	43990947	Nonsense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		43990947	58540445	39	55759											
MYO5C	55930	broad.mit.edu	37	chr15	52532038	52532038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctggccagccacgcccgtgcGtatttctgtaggatcacagc	7	9	11	14	3	2	0	1	0	1	0	2	1	2	1	3	2	3	2	3	2	2	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr15:52532038G>A	ENST00000261839.7	-	21	2756	c.2595C>T	c.(2593-2595)taC>taT	p.Y865Y	MYO5C_ENST00000443683.2_Intron	NM_018728.3	NP_061198.2	Q9NQX4	MYO5C_HUMAN	myosin VC	865	IQ 5.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(7)|large_intestine(15)|lung(12)|ovary(7)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66				all cancers(107;0.0137)		ACGCCCGTGCGTATTTCTGTA	0.453													A	52532038	G	A	52532038	2	1	733	1	0	0	0	0	0	0	0	1	10156	1140	40	1		1	MYO5C	15	52532038	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	8541091	52532038	49999354	40	55760											
CCNF	899	broad.mit.edu	37	chr16	2498903	2498903	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggaggccgtatggctcaCggacaacacttacaagtacg	11	6	12	12	4	1	0	1	0	0	0	1	2	1	2	2	4	3	3	2	4	5	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:2498903C>T	ENST00000397066.4	+	11	1230	c.1142C>T	c.(1141-1143)aCg>aTg	p.T381M		NM_001761.2	NP_001752.2	P41002	CCNF_HUMAN	cyclin F	381	Cyclin N-terminal.				cell division|mitosis|negative regulation of centrosome duplication|protein ubiquitination|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process	centriole|nucleus|SCF ubiquitin ligase complex	protein binding			breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(2)|lung(5)|prostate(4)|skin(1)	20		Ovarian(90;0.17)				GTATGGCTCACGGACAACACT	0.557													T	2498903	C	T	2498903	3	4	733	1	0	0	0	0	1	0	0	0	2952	536	19	1	1184	1	CCNF	16	2498903	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		2498903	87855850	41	55761											
CDYL2	124359	broad.mit.edu	37	chr16	80646694	80646694	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcccattgatggccaccacGataggcttcttaaactggat	10	10	10	11	1	1	1	0	1	1	0	1	3	1	2	3	4	1	1	3	4	3	4			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr16:80646694G>A	ENST00000570137.2	-	5	1202	c.1047C>T	c.(1045-1047)atC>atT	p.I349I	CDYL2_ENST00000566173.1_Silent_p.I350I|CDYL2_ENST00000563890.1_Silent_p.I350I|CDYL2_ENST00000562812.1_Silent_p.I350I	NM_152342.2	NP_689555.2	Q8N8U2	CDYL2_HUMAN	chromodomain protein, Y-like 2							nucleus	catalytic activity|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	21						TGGCCACCACGATAGGCTTCT	0.567													A	80646694	G	A	80646694	2	1	733	1	0	0	0	0	0	0	0	1	3216	1048	37	1		1	CDYL2	16	80646694	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	78147791	80646694	9708059	42	55762											
ALOX12	239	broad.mit.edu	37	chr17	6913672	6913672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaggagattacagcccGgaatgagcaacttgactggc	14	6	13	8	1	0	3	0	2	0	1	0	6	0	5	1	4	4	1	1	4	5	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:6913672G>A	ENST00000251535.6	+	14	1975	c.1922G>A	c.(1921-1923)cGg>cAg	p.R641Q	RP11-589P10.7_ENST00000572547.1_RNA|AC027763.2_ENST00000575727.1_Intron|AC027763.2_ENST00000573939.1_Intron|AC027763.2_ENST00000574377.1_Intron|AC027763.2_ENST00000399541.2_Intron|AC027763.2_ENST00000399540.2_Intron	NM_000697.2	NP_000688.2	P18054	LOX12_HUMAN	arachidonate 12-lipoxygenase	641	Lipoxygenase.				anti-apoptosis|cellular component movement|fatty acid oxidation|leukotriene biosynthetic process|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of cell proliferation|superoxide anion generation	cytosol|sarcolemma	arachidonate 12-lipoxygenase activity|hepoxilin-epoxide hydrolase activity|iron ion binding|lipoxygenase activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(4)|ovary(1)|prostate(3)|urinary_tract(1)	19						ATTACAGCCCGGAATGAGCAA	0.473													A	6913672	G	A	6913672	3	1	733	1	0	0	0	0	1	0	0	0	536	1116	39	1	1976	1	ALOX12	17	6913672	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		6913672	74281538	43	55763											
KRT15	3866	broad.mit.edu	37	chr17	39673194	39673194	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcagcctcaacgccctggcGcagggccagctcattctcat	7	8	10	16	2	4	0	4	0	1	0	5	0	4	0	3	2	3	2	3	2	1	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:39673194G>A	ENST00000254043.3	-	3	4189	c.604C>T	c.(604-606)Cgc>Tgc	p.R202C	KRT15_ENST00000393981.3_Missense_Mutation_p.R37C|KRT15_ENST00000393976.2_Missense_Mutation_p.R202C|KRT15_ENST00000393974.3_Missense_Mutation_p.R37C	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	202	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACGCCCTGGCGCAGGGCCAGC	0.597													A	39673194	G	A	39673194	3	1	733	1	0	0	0	0	1	0	0	0	8510	1087	38	1	790	1	KRT15	17	39673194	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	32759522	39673194	41522016	44	55764											
CD300C	10871	broad.mit.edu	37	chr17	72541027	72541027	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatagcgacactgcaCactcagggatccccccacgg	9	7	8	17	2	2	0	2	0	1	0	4	2	3	1	3	2	2	1	3	2	1	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr17:72541027C>T	ENST00000330793.1	-	2	481	c.121G>A	c.(121-123)Gtg>Atg	p.V41M		NM_006678.3	NP_006669.1	Q08708	CLM6_HUMAN	CD300c molecule	41	Ig-like V-type.				cellular defense response	integral to plasma membrane	transmembrane receptor activity			endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|skin(2)|upper_aerodigestive_tract(1)	21						CGACACTGCACACTCAGGGAT	0.537													T	72541027	C	T	72541027	3	4	733	1	0	0	0	0	1	0	0	0	3027	478	17	2	565	2	CD300C	17	72541027	Missense_Mutation	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08	32867833	72541027	8654183	45	55765											
ANKRD30B	374860	broad.mit.edu	37	chr18	14791432	14791432	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtttcacagaaggatgtGtatttacccaaagctacaca	14	10	8	9	1	1	1	1	0	0	1	1	2	1	2	1	2	3	3	1	2	5	5			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr18:14791432G>C	ENST00000358984.4	+	16	1947	c.1767G>C	c.(1765-1767)gtG>gtC	p.V589V	ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Silent_p.V589V	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	589										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						AGAAGGATGTGTATTTACCCA	0.284													C	14791432	G	C	14791432	2	2	733	1	0	0	0	0	0	0	0	1	659	1364	48	4		4	ANKRD30B	18	14791432	Silent	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		14791432	63285816	46	55766											
RRBP1	6238	broad.mit.edu	37	chr20	17602584	17602584	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagacagagctgcttctcCgattcctcctggggggtggg	6	10	14	11	1	2	2	1	0	1	2	5	3	4	2	3	4	2	2	3	4	0	2			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr20:17602584C>T	ENST00000377813.1	-	14	3459	c.3156G>A	c.(3154-3156)tcG>tcA	p.S1052S	RRBP1_ENST00000360807.4_Silent_p.S619S|RRBP1_ENST00000455029.2_Silent_p.S393S|RRBP1_ENST00000377807.2_Silent_p.S619S|RRBP1_ENST00000246043.4_Silent_p.S1052S|RRBP1_ENST00000470422.1_5'UTR			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	1052					protein transport|translation|transmembrane transport	integral to endoplasmic reticulum membrane|ribosome	receptor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						GCTGCTTCTCCGATTCCTCCT	0.617													T	17602584	C	T	17602584	2	4	733	1	0	0	0	0	0	0	0	1	13769	639	23	1		1	RRBP1	20	17602584	Silent	SNP	C	TCGA-S9-A7R2-01A-21D-A34J-08		17602584	45422936	47	55767											
RIPK4	54101	broad.mit.edu	37	chr21	43161239	43161239	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggcagccaggtgcagcgccGtctggttcaggggtccccgg	4	6	17	14	4	2	0	1	0	1	0	3	0	3	0	4	6	3	3	4	6	0	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr21:43161239G>A	ENST00000352483.2	-	9	2322	c.2258C>T	c.(2257-2259)aCg>aTg	p.T753M	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.T642M|RIPK4_ENST00000542057.1_Missense_Mutation_p.T642M|RIPK4_ENST00000332512.3_Missense_Mutation_p.T705M			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	705						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GTGCAGCGCCGTCTGGTTCAG	0.677													A	43161239	G	A	43161239	3	1	733	1	0	0	0	0	1	0	0	0	13474	1145	40	1	244	1	RIPK4	21	43161239	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		43161239	4968656	48	55768											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688392	30688392	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	aggtgtcctcactctcttggGacgtcaagctctcctgggag	6	11	12	12	1	4	0	2	0	2	0	7	2	5	2	2	3	1	1	2	3	1	1			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chr22:30688392G>C	ENST00000215790.7	-	9	1663	c.1499C>G	c.(1498-1500)tCc>tGc	p.S500C	RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403362.1_Missense_Mutation_p.S412C|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.S507C	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	500						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity			cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						ACTCTCTTGGGACGTCAAGCT	0.592													C	30688392	G	C	30688392	3	2	733	1	0	0	0	0	1	0	0	0	15695	1174	41	4	31	4	TBC1D10A	22	30688392	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08		30688392	20616174	49	55769											
FAM47C	442444	broad.mit.edu	37	chrX	37029461	37029461	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaagcaagggctatgaaaTgcctggcatcattcaaaggc	13	9	10	9	0	3	1	2	1	1	0	3	1	3	1	1	3	2	3	1	3	5	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:37029461T>C	ENST00000358047.3	+	1	3030	c.2978T>C	c.(2977-2979)aTg>aCg	p.M993T		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	993										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGCTATGAAATGCCTGGCATC	0.438													C	37029461	T	C	37029461	3	2	733	1	0	0	0	0	1	0	0	0	5622	1464	51	3	2980	3	FAM47C	23	37029461	Missense_Mutation	SNP	T	TCGA-S9-A7R2-01A-21D-A34J-08		37029461	118241099	50	55770											
DOCK11	139818	broad.mit.edu	37	chrX	117739300	117739300	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atatgacccatgaagatgacGttcctatcaactgcaccatg	13	10	7	11	1	1	4	1	3	0	1	2	4	2	4	3	0	2	2	3	0	4	3			TCGA-S9-A7R2-01A-21D-A34J-08	TCGA-S9-A7R2-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8a5cf4b7-7bf9-4246-bb02-4490457998e8	c60fce17-9f90-426d-ac1f-8a0faa38b361	g.chrX:117739300G>A	ENST00000276204.6	+	24	2736	c.2662G>A	c.(2662-2664)Gtt>Att	p.V888I	DOCK11_ENST00000276202.7_Missense_Mutation_p.V888I			Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	888					blood coagulation	cytosol	GTP binding	p.V888I(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TGAAGATGACGTTCCTATCAA	0.348													A	117739300	G	A	117739300	3	1	733	1	0	0	0	0	1	0	0	0	4725	1145	40	1	2756	1	DOCK11	23	117739300	Missense_Mutation	SNP	G	TCGA-S9-A7R2-01A-21D-A34J-08	80709839	117739300	37531260	51	55771											
LEPR	3953	broad.mit.edu	37	chr1	66102486	66102486	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agagtggtgtgcttttgactGacaagtcaagggtatcgtgc	9	12	14	6	1	1	3	1	2	0	1	2	3	1	3	0	2	2	2	0	2	3	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:66102486G>A	ENST00000349533.6	+	20	3471	c.3286G>A	c.(3286-3288)Gac>Aac	p.D1096N	LEPR_ENST00000406510.3_Missense_Mutation_p.D163N	NM_002303.5	NP_002294.2	P48357	LEPR_HUMAN	leptin receptor	1096					energy reserve metabolic process|multicellular organismal development	extracellular region|integral to membrane|plasma membrane	cytokine receptor activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(22)|skin(2)	36				OV - Ovarian serous cystadenocarcinoma(397;0.00722)|KIRC - Kidney renal clear cell carcinoma(1967;0.094)		GCTTTTGACTGACAAGTCAAG	0.403													A	66102486	G	A	66102486	3	1	734	1	0	0	0	0	1	0	0	0	8787	1290	45	2	3586	2	LEPR	1	66102486	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		66102486	183148135	1	55772											
PLXNA2	5362	broad.mit.edu	37	chr1	208390748	208390748	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccatcctcaccctcagagcGcacaatcaccccgtacatgg	10	6	7	18	2	3	1	3	0	0	1	4	1	4	1	5	1	2	2	5	1	2	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:208390748G>A	ENST00000367033.3	-	2	1277	c.520C>T	c.(520-522)Cgc>Tgc	p.R174C		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	174	Sema.				axon guidance	integral to membrane|intracellular|plasma membrane		p.R174C(1)		NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCTCAGAGCGCACAATCACC	0.602													A	208390748	G	A	208390748	3	1	734	1	0	0	0	0	1	0	0	0	12197	1087	38	1	5288	1	PLXNA2	1	208390748	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	142288262	208390748	40859873	2	55773											
OR2T33	391195	broad.mit.edu	37	chr1	248437112	248437112	+	Frame_Shift_Del	DEL	T	T	-																															ctggggtagtatttctcatcTccataatttcccctggtgtg																										TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr1:248437112delT	ENST00000318021.2	-	1	26	c.5delA	c.(4-6)gagfs	p.E2fs		NM_001004695.1	NP_001004695.1	Q8NG76	O2T33_HUMAN	olfactory receptor, family 2, subfamily T, member 33	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(2)|breast(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(41)|ovary(1)|prostate(1)|skin(4)	67	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ATTTCTCATCTCCATAATTTC	0.428													-	248437112	T	-	248437112	7	5	734	1	0	1	0	1	0	0	0	0	11100	1551	54	0	960	0	OR2T33	1	248437112	Frame_Shift_Del	DEL	T	TCGA-S9-A7R3-01A-11D-A34J-08	40046364	248437112	813509	3	55774											
HTRA2	27429	broad.mit.edu	37	chr2	74757848	74757848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccatgtggtggctgatcggcGcagagtccgtgtgagactgc	6	9	16	10	3	0	3	0	2	0	2	2	4	1	3	2	3	1	2	2	3	0	0			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:74757848G>A	ENST00000258080.3	+	2	1241	c.611G>A	c.(610-612)cGc>cAc	p.R204H	HTRA2_ENST00000467961.1_3'UTR|HTRA2_ENST00000352222.3_Missense_Mutation_p.R204H	NM_013247.4	NP_037379.1	O43464	HTRA2_HUMAN	HtrA serine peptidase 2	204	Serine protease.				apoptosis|proteolysis|response to stress	CD40 receptor complex|endoplasmic reticulum membrane|internal side of plasma membrane|mitochondrial intermembrane space|mitochondrial membrane|nucleus	serine-type endopeptidase activity|unfolded protein binding			endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	12						GCTGATCGGCGCAGAGTCCGT	0.602													A	74757848	G	A	74757848	3	1	734	1	0	0	0	0	1	0	0	0	7512	1087	38	1	617	1	HTRA2	2	74757848	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		74757848	168441525	4	55775											
MERTK	10461	broad.mit.edu	37	chr2	112777033	112777033	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gaagttcatggtggatattgCcctgggaatggagtatctga	10	12	14	5	0	2	1	1	1	1	0	2	5	2	4	1	4	1	2	1	4	4	4			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:112777033C>T	ENST00000295408.4	+	16	2380	c.2123C>T	c.(2122-2124)gCc>gTc	p.A708V	MERTK_ENST00000409780.1_Missense_Mutation_p.A532V|MERTK_ENST00000421804.2_Missense_Mutation_p.A708V			Q12866	MERTK_HUMAN	c-mer proto-oncogene tyrosine kinase	708	Protein kinase.		A -> S (in a head & Neck squamous cell carcinoma sample; somatic mutation).		cell surface receptor linked signaling pathway|cell-cell signaling|leukocyte migration	integral to plasma membrane|soluble fraction	ATP binding|transmembrane receptor protein tyrosine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|liver(1)|lung(18)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(10)	46						GTGGATATTGCCCTGGGAATG	0.413													T	112777033	C	T	112777033	3	4	734	1	0	0	0	0	1	0	0	0	9554	739	26	2	2185	2	MERTK	2	112777033	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	38019185	112777033	130422340	5	55776											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	734	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	96336079	209113112	34086261	6	55777											
SCN10A	6336	broad.mit.edu	37	chr3	38748793	38748793	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggccgtgggatgggcttctGgggcttcttggagcccaact	4	10	17	10	1	2	0	0	0	2	0	2	2	2	2	2	6	2	2	2	6	1	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr3:38748793G>T	ENST00000449082.2	-	25	4362	c.4363C>A	c.(4363-4365)Cag>Aag	p.Q1455K		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1455					sensory perception	voltage-gated sodium channel complex				NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dibucaine(DB00527)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)	ATGGGCTTCTGGGGCTTCTTG	0.557													T	38748793	G	T	38748793	3	4	734	1	0	0	0	0	1	0	0	0	14005	1357	47	4	1519	4	SCN10A	3	38748793	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		38748793	159273637	7	55778											
NDST4	64579	broad.mit.edu	37	chr4	115898356	115898356	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttacctgtgtggtaaaaCttccctgaaaatccaaggtt	11	14	7	9	0	1	1	0	1	1	0	3	1	3	1	3	2	2	2	3	2	6	5			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:115898356C>G	ENST00000264363.2	-	3	1731	c.1053G>C	c.(1051-1053)aaG>aaC	p.K351N		NM_022569.1	NP_072091.1	Q9H3R1	NDST4_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 4	351	Heparan sulfate N-deacetylase 4.					Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(43)|ovary(1)|prostate(7)|skin(11)|upper_aerodigestive_tract(1)|urinary_tract(1)	81		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000562)		TGTGGTAAAACTTCCCTGAAA	0.343													G	115898356	C	G	115898356	3	3	734	1	0	0	0	0	1	0	0	0	10334	564	20	4	1613	4	NDST4	4	115898356	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08		115898356	75255920	8	55779											
FGA	2243	broad.mit.edu	37	chr4	155508066	155508066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcggatcttaatatcaatgTccacctagagagaggggaga	14	9	11	7	1	2	3	1	0	1	3	4	6	3	4	2	3	0	0	2	3	4	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr4:155508066T>C	ENST00000302053.3	-	5	593	c.515A>G	c.(514-516)gAc>gGc	p.D172G	FGA_ENST00000403106.3_Missense_Mutation_p.D172G	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	172					platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	AATATCAATGTCCACCTAGAG	0.388													C	155508066	T	C	155508066	3	2	734	1	0	0	0	0	1	0	0	0	5879	1667	58	3	2137	3	FGA	4	155508066	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08	39609710	155508066	35646210	9	55780											
FCHO2	115548	broad.mit.edu	37	chr5	72383519	72383519	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagtaccctttcaggagtAgatttcgaacttgtgggcac	10	11	12	8	1	1	1	1	0	0	1	2	4	1	3	1	3	2	3	1	3	4	5			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr5:72383519A>G	ENST00000430046.2	+	25	2465	c.2349A>G	c.(2347-2349)gtA>gtG	p.V783V	FCHO2_ENST00000341845.6_Silent_p.V783V|FCHO2_ENST00000512348.1_Silent_p.V750V	NM_001146032.1|NM_138782.2	NP_001139504.1|NP_620137.2	Q0JRZ9	FCHO2_HUMAN	FCH domain only 2	783										cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(1)	17		Lung NSC(167;0.0465)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;4.6e-53)		TTTCAGGAGTAGATTTCGAAC	0.438													G	72383519	A	G	72383519	2	3	734	1	0	0	0	0	0	0	0	1	5837	407	15	3		3	FCHO2	5	72383519	Silent	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08		72383519	108531741	10	55781											
DCBLD1	285761	broad.mit.edu	37	chr6	117861894	117861894	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atttcatccctcccatcgtgGccagatatgtgcgggttgtc	6	13	10	12	2	1	1	1	0	0	1	5	1	3	1	3	2	1	1	3	2	1	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:117861894G>A	ENST00000338728.5	+	10	1285	c.1165G>A	c.(1165-1167)Gcc>Acc	p.A389T	DCBLD1_ENST00000534777.1_3'UTR|DCBLD1_ENST00000296955.8_Missense_Mutation_p.A389T|GOPC_ENST00000467125.1_Intron|DCBLD1_ENST00000368503.4_Intron			Q8N8Z6	DCBD1_HUMAN	discoidin, CUB and LCCL domain containing 1	389	F5/8 type C.				cell adhesion	integral to membrane				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_cancers(87;0.171)		GBM - Glioblastoma multiforme(226;0.0447)|OV - Ovarian serous cystadenocarcinoma(136;0.0921)|all cancers(137;0.125)		TCCCATCGTGGCCAGATATGT	0.473													A	117861894	G	A	117861894	3	1	734	1	0	0	0	0	1	0	0	0	4314	1203	42	2	1203	2	DCBLD1	6	117861894	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		117861894	53253173	11	55782											
CNKSR3	154043	broad.mit.edu	37	chr6	154743663	154743663	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacaagaggtggcttccaccGtaggtttttcaggggagcag	9	10	14	8	1	1	1	1	0	0	1	2	2	2	2	2	5	2	4	2	5	3	5			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr6:154743663G>A	ENST00000607772.1	-	9	1466	c.922C>T	c.(922-924)Cgg>Tgg	p.R308W	CNKSR3_ENST00000479339.1_Missense_Mutation_p.R228W|CNKSR3_ENST00000433165.2_Missense_Mutation_p.R133W	NM_173515.2	NP_775786.2	Q6P9H4	CNKR3_HUMAN	CNKSR family member 3	308					negative regulation of ERK1 and ERK2 cascade|negative regulation of peptidyl-serine phosphorylation|positive regulation of sodium ion transport	cytoplasm|membrane				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	15		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;5.03e-11)|BRCA - Breast invasive adenocarcinoma(81;0.00627)		GGCTTCCACCGTAGGTTTTTC	0.443													A	154743663	G	A	154743663	3	1	734	1	0	0	0	0	1	0	0	0	3639	1144	40	1	765	1	CNKSR3	6	154743663	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	36881769	154743663	16371404	12	55783											
STAG3L2	442582	broad.mit.edu	37	chr7	74300804	74300804	+	RNA	DEL	A	A	-																															gaacagctgtcttcatacttAaaaaaaaaaaaggatcacag																										TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr7:74300804delA	ENST00000423186.1	-	0	499							P0CL84	ST3L2_HUMAN								nucleus	binding			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CTTCATACTTAAAAAAAAAAA	0.458													-	74300804	A	-	74300804	6	5	734	0	1	1	0	1	0	0	0	0	15341	377	13	0		0	STAG3L2	7	74300804	RNA	DEL	A	TCGA-S9-A7R3-01A-11D-A34J-08		74300804	84837859	13	55784											
IFNA21	3452	broad.mit.edu	37	chr9	21166307	21166307	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatttttctaggaggctcTgttcccaagtagcagatgag	12	12	10	7	0	2	2	0	1	2	1	3	3	3	3	1	2	1	4	1	2	5	5			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:21166307T>C	ENST00000380225.1	-	1	352	c.305A>G	c.(304-306)cAg>cGg	p.Q102R		NM_002175.2	NP_002166.2	P01568	IFN21_HUMAN	interferon, alpha 21	102					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|skin(3)	14				GBM - Glioblastoma multiforme(5;1.93e-187)|Lung(24;2.12e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TAGGAGGCTCTGTTCCCAAGT	0.498													C	21166307	T	C	21166307	3	2	734	1	0	0	0	0	1	0	0	0	7596	1580	55	3	268	3	IFNA21	9	21166307	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08		21166307	120047124	14	55785											
TDRD7	23424	broad.mit.edu	37	chr9	100190781	100190781	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctggtttcaaagatgctaCgagctgttctgcagtctcat	9	14	9	9	1	4	1	2	0	3	1	5	2	4	1	0	1	4	5	0	1	2	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:100190781C>T	ENST00000355295.4	+	2	329	c.34C>T	c.(34-36)Cga>Tga	p.R12*	TDRD7_ENST00000422139.2_Intron	NM_014290.2	NP_055105.2	Q8NHU6	TDRD7_HUMAN	tudor domain containing 7	12	Lotus/OST-HTH 1.				lens fiber cell differentiation|lens morphogenesis in camera-type eye|posttranscriptional regulation of gene expression|spermatogenesis	chromatoid body	mRNA binding			endometrium(3)|kidney(4)|large_intestine(6)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Acute lymphoblastic leukemia(62;0.158)				AAAGATGCTACGAGCTGTTCT	0.438													T	100190781	C	T	100190781	4	4	734	1	0	0	0	0	0	1	0	0	15835	528	19	1	36	1	TDRD7	9	100190781	Nonsense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	79024474	100190781	41022650	15	55786											
MRPL50	54534	broad.mit.edu	37	chr9	104152867	104152867	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatctctaaccctgcacaTctggtggagtctggagttag	10	11	10	10	0	3	0	0	0	3	0	4	2	3	2	1	3	3	2	1	3	3	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:104152867T>C	ENST00000374865.4	-	2	379	c.358A>G	c.(358-360)Atg>Gtg	p.M120V	MRPL50_ENST00000539624.1_Missense_Mutation_p.M120V	NM_019051.2	NP_061924.1	Q8N5N7	RM50_HUMAN	mitochondrial ribosomal protein L50	120						mitochondrion|ribosome				large_intestine(1)|lung(2)|prostate(2)	5		Acute lymphoblastic leukemia(62;0.0559)				ACCCTGCACATCTGGTGGAGT	0.423													C	104152867	T	C	104152867	3	2	734	1	0	0	0	0	1	0	0	0	9890	1435	50	3	122	3	MRPL50	9	104152867	Missense_Mutation	SNP	T	TCGA-S9-A7R3-01A-11D-A34J-08	3962086	104152867	37060564	16	55787											
SPTAN1	6709	broad.mit.edu	37	chr9	131353798	131353798	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acgatcgtcagggttttgtgCcggctgcgtacgtgaagaaa	9	10	14	8	5	1	2	1	1	0	1	2	3	1	2	1	2	3	3	1	2	3	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr9:131353798C>T	ENST00000372739.3	+	22	3159	c.3049C>T	c.(3049-3051)Ccg>Tcg	p.P1017S	SPTAN1_ENST00000372731.4_Missense_Mutation_p.P1017S|SPTAN1_ENST00000358161.5_Missense_Mutation_p.P1017S	NM_001130438.2	NP_001123910.1	Q13813	SPTA2_HUMAN	spectrin, alpha, non-erythrocytic 1	1017	SH3.		P -> S (in a breast cancer sample; somatic mutation).		actin filament capping|axon guidance|cellular component disassembly involved in apoptosis	cytosol|intracellular membrane-bounded organelle|membrane fraction|microtubule cytoskeleton|spectrin	actin binding|calcium ion binding|calmodulin binding|structural constituent of cytoskeleton	p.P1017S(1)		NS(2)|breast(8)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(21)|liver(1)|lung(25)|ovary(5)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	87						GGGTTTTGTGCCGGCTGCGTA	0.522													T	131353798	C	T	131353798	3	4	734	1	0	0	0	0	1	0	0	0	15213	739	26	2	3131	2	SPTAN1	9	131353798	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	27200931	131353798	9859633	17	55788											
PDCD11	22984	broad.mit.edu	37	chr10	105178345	105178345	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattggctccaggcaggtgAcatccttcaccgagtcctgt	7	11	10	13	1	2	1	2	1	0	0	5	2	5	1	4	3	0	2	4	3	0	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr10:105178345A>G	ENST00000369797.3	+	15	2154	c.2060A>G	c.(2059-2061)gAc>gGc	p.D687G		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	687	S1 motif 7.				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		CAGGCAGGTGACATCCTTCAC	0.582													G	105178345	A	G	105178345	3	3	734	1	0	0	0	0	1	0	0	0	11693	275	10	3	2114	3	PDCD11	10	105178345	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08		105178345	30356402	18	55789											
ART1	417	broad.mit.edu	37	chr11	3680945	3680945	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctctcccggatctcaacCacacggagttccaggccaac	9	7	8	17	2	2	0	1	0	2	0	5	2	3	2	4	3	3	2	4	3	2	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr11:3680945C>T	ENST00000250693.1	+	3	297	c.196C>T	c.(196-198)Cac>Tac	p.H66Y		NM_004314.2	NP_004305.2	P52961	NAR1_HUMAN	ADP-ribosyltransferase 1	66					protein ADP-ribosylation	anchored to membrane|integral to plasma membrane|sarcoplasmic reticulum membrane	NAD(P)+-protein-arginine ADP-ribosyltransferase activity|NAD+ ADP-ribosyltransferase activity			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|skin(1)	8		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0351)|LUSC - Lung squamous cell carcinoma(625;0.195)	Becaplermin(DB00102)	GGATCTCAACCACACGGAGTT	0.592													T	3680945	C	T	3680945	3	4	734	1	0	0	0	0	1	0	0	0	1002	594	21	2	202	2	ART1	11	3680945	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08		3680945	131325571	19	55790											
NINJ2	4815	broad.mit.edu	37	chr12	772646	772646	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgggagagagcacacagctGgcgggacagacctgccattc	10	5	15	11	1	0	2	0	0	0	2	1	5	0	4	2	3	3	2	2	3	0	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:772646G>T	ENST00000305108.4	-	1	299	c.19C>A	c.(19-21)Cag>Aag	p.Q7K	RP11-218M22.1_ENST00000543884.1_RNA	NM_016533.4	NP_057617.2	Q9NZG7	NINJ2_HUMAN	ninjurin 2	0					nervous system development|neuron cell-cell adhesion|tissue regeneration	integral to plasma membrane				large_intestine(3)|lung(1)|ovary(2)	6	all_cancers(10;0.0101)|all_epithelial(11;0.0174)|Ovarian(42;0.0512)|all_lung(10;0.103)|Lung NSC(10;0.185)		OV - Ovarian serous cystadenocarcinoma(31;3.26e-05)|BRCA - Breast invasive adenocarcinoma(9;0.0508)			GCACACAGCTGGCGGGACAGA	0.627													T	772646	G	T	772646	3	4	734	1	0	0	0	0	1	0	0	0	10495	1357	47	4	559	4	NINJ2	12	772646	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		772646	133079249	20	55791											
ERC1	23085	broad.mit.edu	37	chr12	1137520	1137520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtcaggcgagagataacacaAtcatggatctgcagacacag	15	6	11	9	1	3	2	2	0	1	2	3	5	3	3	0	2	2	1	0	2	2	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:1137520A>G	ENST00000397203.2	+	2	857	c.451A>G	c.(451-453)Atc>Gtc	p.I151V	ERC1_ENST00000355446.5_Missense_Mutation_p.I151V|ERC1_ENST00000360905.4_Missense_Mutation_p.I151V|ERC1_ENST00000543086.3_Missense_Mutation_p.I151V|ERC1_ENST00000589028.1_Missense_Mutation_p.I151V|ERC1_ENST00000546231.2_Missense_Mutation_p.I151V			Q8IUD2	RB6I2_HUMAN	ELKS/RAB6-interacting/CAST family member 1	151					I-kappaB phosphorylation|multicellular organismal development|positive regulation of anti-apoptosis|positive regulation of NF-kappaB transcription factor activity|protein transport	Golgi membrane|IkappaB kinase complex|presynaptic membrane	leucine zipper domain binding			NS(1)|breast(2)|cervix(2)|endometrium(2)|large_intestine(8)|lung(15)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	38	all_epithelial(11;0.0698)|Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00239)|BRCA - Breast invasive adenocarcinoma(9;0.0567)			AGATAACACAATCATGGATCT	0.458													G	1137520	A	G	1137520	3	3	734	1	0	0	0	0	1	0	0	0	5251	101	4	3	453	3	ERC1	12	1137520	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	364874	1137520	132714375	21	55792											
PRMT8	56341	broad.mit.edu	37	chr12	3692311	3692311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgcaacgactacgtccacGccctggtcacctattttaat	10	10	7	14	4	1	0	1	0	0	0	2	1	2	0	3	1	3	1	3	1	4	4			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:3692311G>A	ENST00000382622.3	+	8	1306	c.916G>A	c.(916-918)Gcc>Acc	p.A306T	PRMT8_ENST00000261252.4_3'UTR|PRMT8_ENST00000452611.2_Missense_Mutation_p.A297T	NM_019854.4	NP_062828.3	Q9NR22	ANM8_HUMAN	protein arginine methyltransferase 8	306					regulation of protein binding	cytoplasm|plasma membrane	histone-arginine N-methyltransferase activity|protein heterodimerization activity|protein homodimerization activity|protein-arginine omega-N asymmetric methyltransferase activity|protein-arginine omega-N monomethyltransferase activity	p.A306T(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(9)|lung(14)|ovary(3)|skin(5)|upper_aerodigestive_tract(1)	37			OV - Ovarian serous cystadenocarcinoma(31;0.0109)|COAD - Colon adenocarcinoma(12;0.0264)			CTACGTCCACGCCCTGGTCAC	0.498													A	3692311	G	A	3692311	3	1	734	1	0	0	0	0	1	0	0	0	12628	1087	38	1	946	1	PRMT8	12	3692311	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	2554791	3692311	130159584	22	55793											
PDE3A	5139	broad.mit.edu	37	chr12	20769226	20769226	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttccacttggaccaccacCacctcggccacaggtctacc	8	8	6	19	1	2	0	0	0	2	0	4	1	3	1	7	3	1	0	7	3	1	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr12:20769226C>A	ENST00000359062.3	+	4	1372	c.1332C>A	c.(1330-1332)acC>acA	p.T444T	PDE3A_ENST00000544307.1_3'UTR	NM_000921.4|NM_001244683.1	NP_000912.3|NP_001231612.1	Q14432	PDE3A_HUMAN	phosphodiesterase 3A, cGMP-inhibited	444	Poly-Thr.				lipid metabolic process|platelet activation|signal transduction	cytosol|integral to membrane	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP-inhibited cyclic-nucleotide phosphodiesterase activity|metal ion binding			NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(7)|lung(29)|ovary(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	58	Esophageal squamous(101;0.125)	Breast(259;0.134)			Aminophylline(DB01223)|Amrinone(DB01427)|Anagrelide(DB00261)|Cilostazol(DB01166)|Enoximone(DB04880)|Milrinone(DB00235)|Theophylline(DB00277)	GGACCACCACCACCTCGGCCA	0.532													A	20769226	C	A	20769226	2	1	734	1	0	0	0	0	0	0	0	1	11713	581	21	4		4	PDE3A	12	20769226	Silent	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	17076915	20769226	113082669	23	55794											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	734	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		7577121	73618089	24	55795											
WDR16	146845	broad.mit.edu	37	chr17	9503430	9503430	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttggcaccacgactggagAtattctaaaaatgaacccca	14	8	7	12	1	1	2	0	1	1	1	1	4	1	2	4	2	1	1	4	2	5	4			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:9503430A>C	ENST00000352665.5	+	6	752	c.683A>C	c.(682-684)gAt>gCt	p.D228A	WDR16_ENST00000396219.3_Missense_Mutation_p.D160A|WDR16_ENST00000299764.5_Missense_Mutation_p.D238A	NM_145054.4	NP_659491.4	Q8N1V2	WDR16_HUMAN	WD repeat domain 16	228						cytoplasm|intracellular membrane-bounded organelle	protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	31						ACGACTGGAGATATTCTAAAA	0.488													C	9503430	A	C	9503430	3	2	734	1	0	0	0	0	1	0	0	0	17378	333	12	5	705	5	WDR16	17	9503430	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	1926309	9503430	71691780	25	55796											
CDC27	996	broad.mit.edu	37	chr17	45216210	45216210	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtagatctccatgccttcAactctataattctcaatcct	11	14	4	12	0	4	1	2	0	3	1	7	2	5	1	3	0	2	1	3	0	5	5	rs62075659		TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000531206.1_Silent_p.V539V|CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318													C	45216210	A	C	45216210	2	2	734	1	0	0	0	0	0	0	0	1	3096	117	5	5		5	CDC27	17	45216210	Silent	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	35712780	45216210	35979000	26	55797											
TANC2	26115	broad.mit.edu	37	chr17	61482567	61482567	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcagtggcccagccaaaccGccgaggagcagtgccactat	10	4	13	14	2	0	0	0	0	0	0	0	2	0	1	5	3	4	2	5	3	2	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr17:61482567G>A	ENST00000424789.2	+	18	3198	c.3194G>A	c.(3193-3195)cGc>cAc	p.R1065H	RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Missense_Mutation_p.R1065H|AC015923.1_ENST00000431604.1_RNA	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1065							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						CAGCCAAACCGCCGAGGAGCA	0.617													A	61482567	G	A	61482567	3	1	734	1	0	0	0	0	1	0	0	0	15642	1087	38	1	3264	1	TANC2	17	61482567	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	16266357	61482567	19712643	27	55798											
CTAGE1	64693	broad.mit.edu	37	chr18	19997008	19997008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	attccaagttatcatcatccGttacatcttcttcaagcata	12	15	3	11	1	5	0	3	0	2	0	7	0	7	0	2	0	2	3	2	0	5	6			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:19997008G>A	ENST00000391403.2	-	1	870	c.767C>T	c.(766-768)aCg>aTg	p.T256M		NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN	cutaneous T-cell lymphoma-associated antigen 1	256						integral to membrane				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					ATCATCATCCGTTACATCTTC	0.373													A	19997008	G	A	19997008	3	1	734	1	0	0	0	0	1	0	0	0	4025	1145	40	1	1474	1	CTAGE1	18	19997008	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		19997008	58080240	28	55799											
MYO5B	4645	broad.mit.edu	37	chr18	47367798	47367798	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttggataaccagaatgaCgtcatctcaaagtcatcatt	13	12	8	8	1	4	2	4	1	1	1	5	3	4	3	1	1	1	1	1	1	3	3			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:47367798C>T	ENST00000285039.7	-	35	4937	c.4638G>A	c.(4636-4638)acG>acA	p.T1546T	MYO5B_ENST00000592688.1_Silent_p.T116T|MYO5B_ENST00000324581.6_Silent_p.T661T|SCARNA17_ENST00000589499.1_RNA	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1546	Dilute.				protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		ACCAGAATGACGTCATCTCAA	0.522													T	47367798	C	T	47367798	2	4	734	1	0	0	0	0	0	0	0	1	10155	523	19	1		1	MYO5B	18	47367798	Silent	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	27370790	47367798	30709450	29	55800											
CBLN2	147381	broad.mit.edu	37	chr18	70205466	70205466	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtatttccagccccccatgAggttgcctctctcaagtttg	7	13	8	13	0	2	1	1	1	1	0	4	1	3	1	5	1	2	3	5	1	2	4			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr18:70205466A>T	ENST00000269503.4	-	5	1393	c.620T>A	c.(619-621)cTc>cAc	p.L207H	CBLN2_ENST00000585159.1_Missense_Mutation_p.L207H|CBLN2_ENST00000584764.1_Missense_Mutation_p.L91H|CBLN2_ENST00000581073.1_Missense_Mutation_p.L93H|CBLN2_ENST00000583651.1_5'UTR	NM_182511.3	NP_872317.1	Q8IUK8	CBLN2_HUMAN	cerebellin 2 precursor	207	C1q.					integral to membrane				endometrium(2)|lung(15)	17		Esophageal squamous(42;0.131)				GCCCCCCATGAGGTTGCCTCT	0.532													T	70205466	A	T	70205466	3	4	734	1	0	0	0	0	1	0	0	0	2731	304	11	5	58	5	CBLN2	18	70205466	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	22837668	70205466	7871782	30	55801											
PPAN-P2RY11	692312	broad.mit.edu	37	chr19	10224393	10224395	+	In_Frame_Del	DEL	TGG	TGG	-																															ggacttcctgtggcccatacTggtggttgagttcctggtgg																										TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:10224393_10224395delTGG	ENST00000428358.1	+	13	1598_1600	c.1426_1428delTGG	c.(1426-1428)tggdel	p.W477del	P2RY11_ENST00000321826.4_In_Frame_Del_p.V37del|P2RY11_ENST00000471843.1_3'UTR|PPAN_ENST00000556468.1_In_Frame_Del_p.V457del|PPAN-P2RY11_ENST00000393796.4_In_Frame_Del_p.V457del	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN		0					RNA splicing	nucleolus	protein binding			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			TGGCCCATACTGGTGGTTGAGTT	0.631											OREG0025230	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	10224395	TGG	-	10224393	7	5	734	1	0	1	0	1	0	0	0	0	12366	1580	55	0		0	PPAN-P2RY11	19	10224393	In_Frame_Del	DEL	TGG	TCGA-S9-A7R3-01A-11D-A34J-08		10224393	48904590	31	55802											
LIPE	3991	broad.mit.edu	37	chr19	42930686	42930686	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcctgaagttttgttagaaAtcccagctctgtcaaagatc	11	14	7	9	0	2	3	1	1	1	2	5	3	4	3	2	0	1	3	2	0	4	4			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr19:42930686A>G	ENST00000244289.4	-	1	892	c.616T>C	c.(616-618)Ttt>Ctt	p.F206L	LIPE-AS1_ENST00000594688.1_RNA|LIPE-AS1_ENST00000594624.2_RNA|LIPE-AS1_ENST00000593740.2_RNA|LIPE-AS1_ENST00000597203.1_RNA|LIPE-AS1_ENST00000457234.2_RNA	NM_005357.2	NP_005348.2	Q05469	LIPS_HUMAN	lipase, hormone-sensitive	206					cholesterol metabolic process|protein phosphorylation|triglyceride catabolic process	caveola|cytosol	hormone-sensitive lipase activity|protein binding			breast(2)|endometrium(4)|kidney(7)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	32		Prostate(69;0.00682)				TTTGTTAGAAATCCCAGCTCT	0.488													G	42930686	A	G	42930686	3	3	734	1	0	0	0	0	1	0	0	0	8882	101	4	3	2654	3	LIPE	19	42930686	Missense_Mutation	SNP	A	TCGA-S9-A7R3-01A-11D-A34J-08	32706293	42930686	16198297	32	55803											
C21orf91	54149	broad.mit.edu	37	chr21	19190530	19190530	+	Frame_Shift_Del	DEL	A	A	-																															ctcaatatttagctcaaaacAaatgtggcagaaggagagtg																										TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:19190530delA	ENST00000284881.4	-	2	196	c.106delT	c.(106-108)tgtfs	p.C36fs	C21orf91_ENST00000400558.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000400559.3_Frame_Shift_Del_p.C36fs|C21orf91_ENST00000493464.1_5'UTR	NM_001100420.1|NM_017447.3	NP_001093890.1|NP_059143.3	Q9NYK6	EURL_HUMAN	chromosome 21 open reading frame 91	36										endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9				Epithelial(23;8.76e-05)|all cancers(11;0.000422)|OV - Ovarian serous cystadenocarcinoma(11;0.0107)|Lung(58;0.0129)|COAD - Colon adenocarcinoma(22;0.0303)|LUSC - Lung squamous cell carcinoma(23;0.0381)|Colorectal(24;0.0929)		AGCTCAAAACAAATGTGGCAG	0.353													-	19190530	A	-	19190530	7	5	734	1	0	1	0	1	0	0	0	0	2155	130	5	0	803	0	C21orf91	21	19190530	Frame_Shift_Del	DEL	A	TCGA-S9-A7R3-01A-11D-A34J-08		19190530	28939365	33	55804											
FAM3B	54097	broad.mit.edu	37	chr21	42694963	42694963	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagtgctgcctatagcatcCgcagcatcggggagaggcct	8	7	13	13	2	0	1	0	0	0	1	2	2	1	1	4	3	4	4	4	3	2	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr21:42694963C>T	ENST00000398652.3	+	3	316	c.250C>T	c.(250-252)Cgc>Tgc	p.R84C	FAM3B_ENST00000398646.3_Missense_Mutation_p.R68C|FAM3B_ENST00000398647.3_Intron|FAM3B_ENST00000479810.2_3'UTR|FAM3B_ENST00000357985.2_Missense_Mutation_p.R45C			P58499	FAM3B_HUMAN	family with sequence similarity 3, member B	45					apoptosis|insulin secretion	extracellular space	cytokine activity			central_nervous_system(2)|endometrium(1)|lung(2)	5		Prostate(19;1.57e-07)|all_epithelial(19;0.0404)				CTATAGCATCCGCAGCATCGG	0.602													T	42694963	C	T	42694963	3	4	734	1	0	0	0	0	1	0	0	0	5608	652	23	1	139	1	FAM3B	21	42694963	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	23504433	42694963	5434932	34	55805											
CCT8L2	150160	broad.mit.edu	37	chr22	17073284	17073284	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gaacttctgccggccgtgggGgccatagcaaggccggatga	8	6	16	11	3	1	1	0	1	1	0	1	3	1	2	4	5	3	1	4	5	3	2			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chr22:17073284G>A	ENST00000359963.3	-	1	416	c.157C>T	c.(157-159)Ccc>Tcc	p.P53S		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	53					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGGCCGTGGGGGCCATAGCAA	0.642													A	17073284	G	A	17073284	3	1	734	1	0	0	0	0	1	0	0	0	2991	1232	43	2	1520	2	CCT8L2	22	17073284	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		17073284	34231282	35	55806											
ZNF280C	55609	broad.mit.edu	37	chrX	129370584	129370584	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactttagaagtagaaggatGtttcaacacatatgaagtat	16	13	8	4	0	1	3	1	1	0	2	1	4	1	4	0	1	2	3	0	1	9	7			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:129370584G>A	ENST00000370978.4	-	7	676	c.523C>T	c.(523-525)Cat>Tat	p.H175Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	175	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						GTAGAAGGATGTTTCAACACA	0.308													A	129370584	G	A	129370584	3	1	734	1	0	0	0	0	1	0	0	0	17917	1377	48	2	1742	2	ZNF280C	23	129370584	Missense_Mutation	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08		129370584	25899976	36	55807											
HCFC1	3054	broad.mit.edu	37	chrX	153236222	153236222	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggcaccggacccgaccagcCcaccactcgcttccagcggg	7	4	11	19	4	0	0	0	0	0	0	2	2	1	1	6	3	2	2	6	3	0	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153236222C>A	ENST00000310441.7	-	1	1036	c.70G>T	c.(70-72)Ggc>Tgc	p.G24C	HCFC1_ENST00000354233.3_Missense_Mutation_p.G24C|HCFC1_ENST00000369984.4_Missense_Mutation_p.G24C	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1 (VP16-accessory protein)	24					cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCCGACCAGCCCACCACTCGC	0.682													A	153236222	C	A	153236222	3	1	734	1	0	0	0	0	1	0	0	0	7046	623	22	4	6141	4	HCFC1	23	153236222	Missense_Mutation	SNP	C	TCGA-S9-A7R3-01A-11D-A34J-08	23865638	153236222	2034338	37	55808											
IRAK1	3654	broad.mit.edu	37	chrX	153282062	153282062	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggccaaagtctcccagcttGggtgtcagcctctcatccag	8	9	10	14	0	3	0	2	0	2	0	6	0	4	0	4	2	2	1	4	2	1	1			TCGA-S9-A7R3-01A-11D-A34J-08	TCGA-S9-A7R3-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8c66180f-e749-4b77-8f69-5ec01afae762	05a08903-42bb-4a25-a14e-9f0e3ce84fdb	g.chrX:153282062G>A	ENST00000369980.3	-	9	1229	c.1062C>T	c.(1060-1062)ccC>ccT	p.P354P	IRAK1_ENST00000477274.1_5'UTR|IRAK1_ENST00000429936.2_Silent_p.P380P|IRAK1_ENST00000369974.2_Silent_p.P354P|IRAK1_ENST00000393682.1_Silent_p.P380P|IRAK1_ENST00000393687.2_Silent_p.P354P	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	354	Protein kinase.				activation of MAPK activity|activation of NF-kappaB-inducing kinase activity|anti-apoptosis|innate immune response|interleukin-1-mediated signaling pathway|JNK cascade|lipopolysaccharide-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of NF-kappaB transcription factor activity|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of transcription, DNA-dependent|protein autophosphorylation|protein oligomerization|regulation of cytokine-mediated signaling pathway|stress-activated MAPK cascade|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|transmembrane receptor protein serine/threonine kinase signaling pathway	cytosol|endosome membrane|interleukin-1 receptor complex	ATP binding|NF-kappaB-inducing kinase activity|protein binding|protein heterodimerization activity|protein homodimerization activity|ubiquitin-protein ligase activity			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTCCCAGCTTGGGTGTCAGCC	0.642													A	153282062	G	A	153282062	2	1	734	1	0	0	0	0	0	0	0	1	7879	1335	47	2		2	IRAK1	23	153282062	Silent	SNP	G	TCGA-S9-A7R3-01A-11D-A34J-08	45840	153282062	1988498	38	55809											
FCER1A	2205	broad.mit.edu	37	chr1	159277544	159277544	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgttccactacagctccgcGtgagaagtactggctacaat	10	10	10	11	2	0	1	0	1	0	1	2	2	2	1	2	1	4	4	2	1	5	4			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:159277544G>A	ENST00000368115.1	+	6	695	c.596G>A	c.(595-597)cGt>cAt	p.R199H	FCER1A_ENST00000368114.1_Missense_Mutation_p.R166H	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	199						integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	ACAGCTCCGCGTGAGAAGTAC	0.413													A	159277544	G	A	159277544	3	1	735	1	0	0	0	0	1	0	0	0	5823	1145	40	1	614	1	FCER1A	1	159277544	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		159277544	89973077	1	55810											
SLC26A9	115019	broad.mit.edu	37	chr1	205888009	205888009	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggtcacgtctctagcatttgCctgggcaaagaggactgcgt	8	10	13	10	2	2	1	1	0	1	1	3	2	2	2	1	3	3	2	1	3	2	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr1:205888009C>T	ENST00000367135.3	-	19	2328	c.2215G>A	c.(2215-2217)Gca>Aca	p.A739T	SLC26A9_ENST00000367134.2_Missense_Mutation_p.A739T|SLC26A9_ENST00000340781.4_Missense_Mutation_p.A739T	NM_052934.3	NP_443166.1	Q7LBE3	S26A9_HUMAN	solute carrier family 26 (anion exchanger), member 9	739						integral to membrane	chloride channel activity|secondary active sulfate transmembrane transporter activity			NS(1)|breast(3)|endometrium(11)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|skin(7)|urinary_tract(5)	52	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0458)			CTAGCATTTGCCTGGGCAAAG	0.522											OREG0014164	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	205888009	C	T	205888009	3	4	735	1	0	0	0	0	1	0	0	0	14618	739	26	2	468	2	SLC26A9	1	205888009	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	46610465	205888009	43362612	2	55811											
LMAN2L	81562	broad.mit.edu	37	chr2	97403691	97403691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagattcttaccacccGgttccacaaggcaccctgtt	11	9	8	13	1	1	2	0	0	1	2	2	3	2	2	4	2	1	3	4	2	3	4			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:97403691G>A	ENST00000264963.4	-	2	323	c.301C>T	c.(301-303)Cgg>Tgg	p.R101W	LMAN2L_ENST00000377079.4_Missense_Mutation_p.R101W|LMAN2L_ENST00000537039.1_Intron|LMAN2L_ENST00000426463.2_5'UTR|LMAN2L_ENST00000534882.1_Intron	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	101	L-type lectin-like.				ER to Golgi vesicle-mediated transport|protein folding|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle|Golgi membrane|integral to membrane	mannose binding|metal ion binding			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CTTACCACCCGGTTCCACAAG	0.483													A	97403691	G	A	97403691	3	1	735	1	0	0	0	0	1	0	0	0	8900	1115	39	1	810	1	LMAN2L	2	97403691	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		97403691	145795682	3	55812											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	735	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	111709421	209113112	34086261	4	55813											
EPHA4	2043	broad.mit.edu	37	chr2	222294846	222294846	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccattggagggggtaaccgaTagccttcctcaatggcttta	9	11	11	10	1	1	0	1	0	0	0	2	2	2	1	4	4	2	2	4	4	4	6			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:222294846T>C	ENST00000281821.2	-	15	2563	c.2522A>G	c.(2521-2523)tAt>tGt	p.Y841C	EPHA4_ENST00000409938.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000409854.1_Missense_Mutation_p.Y841C|EPHA4_ENST00000392071.4_Missense_Mutation_p.Y790C	NM_004438.3	NP_004429.1	P54764	EPHA4_HUMAN	EPH receptor A4	841	Protein kinase.					integral to plasma membrane	ATP binding|ephrin receptor activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(9)|liver(1)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Renal(207;0.0183)		Epithelial(121;5.38e-09)|all cancers(144;2.47e-06)|LUSC - Lung squamous cell carcinoma(224;0.0115)|Lung(261;0.0154)		GGGTAACCGATAGCCTTCCTC	0.527													C	222294846	T	C	222294846	3	2	735	1	0	0	0	0	1	0	0	0	5210	1406	49	3	450	3	EPHA4	2	222294846	Missense_Mutation	SNP	T	TCGA-S9-A7R4-01A-12D-A34J-08	13181734	222294846	20904527	5	55814											
SCG2	7857	broad.mit.edu	37	chr2	224462280	224462280	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggggtatcatcattcttcGggggccccacagggaacctt	7	11	12	11	1	3	0	2	0	1	0	4	1	3	1	3	5	1	1	3	5	2	5			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr2:224462280G>A	ENST00000305409.2	-	2	1953	c.1721C>T	c.(1720-1722)cCg>cTg	p.P574L		NM_003469.4	NP_003460.2	P13521	SCG2_HUMAN	secretogranin II	574					angiogenesis|endothelial cell migration|eosinophil chemotaxis|induction of positive chemotaxis|inflammatory response|MAPKKK cascade|negative regulation of apoptosis|negative regulation of endothelial cell proliferation|positive regulation of endothelial cell proliferation|protein secretion	extracellular space|stored secretory granule	chemoattractant activity|cytokine activity	p.P574Q(1)		NS(1)|breast(1)|endometrium(1)|kidney(6)|large_intestine(10)|liver(1)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(4)	44		Renal(207;0.0112)|Lung NSC(271;0.0185)|all_lung(227;0.0271)		Epithelial(121;8.16e-11)|all cancers(144;4.66e-08)|Lung(261;0.00714)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCATTCTTCGGGGGCCCCAC	0.493													A	224462280	G	A	224462280	3	1	735	1	0	0	0	0	1	0	0	0	13983	1116	39	1	136	1	SCG2	2	224462280	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	2167434	224462280	18737093	6	55815											
ISL1	3670	broad.mit.edu	37	chr5	50683336	50683336	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcacaggttgtacgggatCaaatgcgccaagtgcagcat	11	7	12	11	3	1	0	1	0	0	0	1	1	1	1	2	2	4	5	2	2	3	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr5:50683336C>A	ENST00000230658.7	+	3	816	c.231C>A	c.(229-231)atC>atA	p.I77I	ISL1_ENST00000505475.2_3'UTR|ISL1_ENST00000511384.1_Silent_p.I77I	NM_002202.2	NP_002193.2	P61371	ISL1_HUMAN	ISL LIM homeobox 1	77					generation of precursor metabolites and energy|multicellular organismal development	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(11)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	31		Lung NSC(810;0.000845)|Breast(144;0.0411)				TGTACGGGATCAAATGCGCCA	0.622													A	50683336	C	A	50683336	2	1	735	1	0	0	0	0	0	0	0	1	7914	816	29	4		4	ISL1	5	50683336	Silent	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		50683336	130231924	7	55816											
PKHD1	5314	broad.mit.edu	37	chr6	51890079	51890079	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tcggctcatcagctgtggtgGctaacctctgacccctaatc	7	11	9	14	1	3	1	2	1	1	0	5	1	3	1	3	3	2	3	3	3	2	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr6:51890079G>A	ENST00000371117.3	-	32	4804	c.4529C>T	c.(4528-4530)gCc>gTc	p.A1510V	PKHD1_ENST00000340994.4_Missense_Mutation_p.A1510V	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	1510	IPT/TIG 10.				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AGCTGTGGTGGCTAACCTCTG	0.473													A	51890079	G	A	51890079	3	1	735	1	0	0	0	0	1	0	0	0	12048	1203	42	2	7878	2	PKHD1	6	51890079	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		51890079	119224988	8	55817											
ZNF716	441234	broad.mit.edu	37	chr7	57528588	57528588	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgtgaggtgcacaaaggaGgttataattatgttaaccaa	15	11	11	4	0	0	1	0	1	0	0	0	2	0	2	1	3	2	3	1	3	6	4			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:57528588G>T	ENST00000420713.1	+	4	533	c.421G>T	c.(421-423)Ggt>Tgt	p.G141C		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCACAAAGGAGGTTATAATTA	0.343													T	57528588	G	T	57528588	3	4	735	1	0	0	0	0	1	0	0	0	18220	1000	35	4	435	4	ZNF716	7	57528588	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		57528588	101610075	9	55818											
SSPO	23145	broad.mit.edu	37	chr7	149505350	149505350	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctttctctgcagcaccTgtgtctctggtaagatggca	6	12	9	14	0	2	1	0	0	2	1	4	1	2	1	3	2	2	4	3	2	1	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr7:149505350T>C	ENST00000378016.2	+	0	8908							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			CTGCAGCACCTGTGTCTCTGG	0.607													C	149505350	T	C	149505350	1	2	735	0	1	0	0	0	0	0	0	0	15285	1580	55	3		3	SSPO	7	149505350	RNA	SNP	T	TCGA-S9-A7R4-01A-12D-A34J-08	91976762	149505350	9633313	10	55819											
RBM12B	389677	broad.mit.edu	37	chr8	94746794	94746794	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcctcctccagtcctcctcCctagggtgcctgaagtcatc	5	10	9	17	0	1	1	1	1	0	0	7	1	6	1	7	2	1	0	7	2	2	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr8:94746794C>G	ENST00000399300.2	-	3	2058	c.1845G>C	c.(1843-1845)agG>agC	p.R615S	RBM12B_ENST00000517700.1_Missense_Mutation_p.R615S|RBM12B_ENST00000520961.1_Intron	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	615							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGTCCTCCTCCCTAGGGTGCC	0.642													G	94746794	C	G	94746794	3	3	735	1	0	0	0	0	1	0	0	0	13202	622	22	4	1164	4	RBM12B	8	94746794	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		94746794	51617228	11	55820											
CEP78	84131	broad.mit.edu	37	chr9	80880816	80880816	+	Frame_Shift_Del	DEL	A	A	-																															gcttacaatgaaggaacactAatgaaggtacaagtactgat																										TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr9:80880816delA	ENST00000376597.4	+	15	1986	c.1842delA	c.(1840-1842)ctafs	p.L614fs	CEP78_ENST00000424347.2_Intron|CEP78_ENST00000415759.2_Intron|CEP78_ENST00000376598.2_Frame_Shift_Del_p.L613fs|CEP78_ENST00000277082.5_Intron	NM_001098802.1	NP_001092272.1	Q5JTW2	CEP78_HUMAN	centrosomal protein 78kDa	599					G2/M transition of mitotic cell cycle	centrosome|cytosol				breast(1)|cervix(1)|endometrium(5)|large_intestine(7)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	21						AAGGAACACTAATGAAGGTAC	0.294													-	80880816	A	-	80880816	7	5	735	1	0	1	0	1	0	0	0	0	3292	349	13	0	1900	0	CEP78	9	80880816	Frame_Shift_Del	DEL	A	TCGA-S9-A7R4-01A-12D-A34J-08		80880816	60332615	12	55821											
PTCHD3	374308	broad.mit.edu	37	chr10	27702370	27702370	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttttgttcacctgccaggcGtacaggatcgggttgggggg	5	11	17	8	2	1	0	1	0	0	0	2	1	1	1	2	6	2	4	2	6	1	5			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:27702370G>A	ENST00000438700.3	-	1	927	c.810C>T	c.(808-810)taC>taT	p.Y270Y		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	270					spermatid development	integral to membrane	hedgehog receptor activity	p.Y270Y(1)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CCTGCCAGGCGTACAGGATCG	0.627													A	27702370	G	A	27702370	2	1	735	1	0	0	0	0	0	0	0	1	12819	1140	40	1		1	PTCHD3	10	27702370	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		27702370	107832377	13	55822											
MYOF	26509	broad.mit.edu	37	chr10	95191198	95191198	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttttcatttagcagggaGatcagcttgtacggcaggga	9	12	12	8	1	2	1	2	0	0	1	2	3	2	2	1	3	3	4	1	3	2	6			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr10:95191198G>T	ENST00000371501.4	-	4	434	c.312C>A	c.(310-312)atC>atA	p.I104I	MYOF_ENST00000371488.3_Silent_p.I104I|MYOF_ENST00000371502.4_Silent_p.I104I|MYOF_ENST00000371489.1_Silent_p.I104I|MYOF_ENST00000358334.5_Silent_p.I104I|MYOF_ENST00000359263.4_Silent_p.I104I			Q9NZM1	MYOF_HUMAN	myoferlin	104					blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TTAGCAGGGAGATCAGCTTGT	0.448													T	95191198	G	T	95191198	2	4	735	1	0	0	0	0	0	0	0	1	10165	932	33	4		4	MYOF	10	95191198	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	67488828	95191198	40343549	14	55823											
NUP98	4928	broad.mit.edu	37	chr11	3700842	3700842	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtccaggtaaacaagcccaGatgtttcccaatcctgaatt	13	10	7	11	0	0	2	0	1	0	1	3	2	3	2	4	1	2	2	4	1	5	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:3700842G>C	ENST00000324932.7	-	31	5435	c.5015C>G	c.(5014-5016)tCt>tGt	p.S1672C	NUP98_ENST00000359171.4_Missense_Mutation_p.S1598C|NUP98_ENST00000355260.3_Missense_Mutation_p.S1598C	NM_016320.4|NM_139132.3	NP_057404.2|NP_624358.2	P52948	NUP98_HUMAN	nucleoporin 98kDa	1689					carbohydrate metabolic process|DNA replication|glucose transport|interspecies interaction between organisms|mitotic prometaphase|mRNA transport|nuclear pore organization|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear membrane|nucleoplasm|Nup107-160 complex	protein binding|structural constituent of nuclear pore|transporter activity			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|liver(1)|lung(15)|ovary(2)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	66		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0403)|LUSC - Lung squamous cell carcinoma(625;0.116)|Lung(200;0.199)		AACAAGCCCAGATGTTTCCCA	0.463			T	"HOXA9, NSD1, WHSC1L1, DDX10, TOP1, HOXD13, PMX1, HOXA13, HOXD11, HOXA11, RAP1GDS1, HOXC11"	AML								C	3700842	G	C	3700842	3	2	735	1	0	0	0	0	1	0	0	0	10849	942	33	4	399	4	NUP98	11	3700842	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		3700842	131305674	15	55824											
TRIM3	10612	broad.mit.edu	37	chr11	6470639	6470639	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cattgccctcgccatgggagCcaaacttgaagaggaactct	11	8	10	12	1	1	2	0	1	1	1	2	4	1	4	3	2	4	0	3	2	3	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:6470639C>G	ENST00000525074.1	-	11	2373	c.1979G>C	c.(1978-1980)gGc>gCc	p.G660A	TRIM3_ENST00000536344.1_Missense_Mutation_p.G541A|TRIM3_ENST00000359518.3_Missense_Mutation_p.G660A|TRIM3_ENST00000345851.3_Missense_Mutation_p.G660A|TRIM3_ENST00000537602.1_Missense_Mutation_p.G582A	NM_001248006.1	NP_001234935.1	O75382	TRIM3_HUMAN	tripartite motif containing 3	660					nervous system development|protein transport	early endosome	protein C-terminus binding|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(3)	27		all_lung(207;9.97e-06)|Lung NSC(207;1.74e-05)|Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;9.34e-10)|Lung(200;0.0234)|LUSC - Lung squamous cell carcinoma(625;0.133)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCCATGGGAGCCAAACTTGAA	0.602													G	6470639	C	G	6470639	3	3	735	1	0	0	0	0	1	0	0	0	16605	739	26	4	263	4	TRIM3	11	6470639	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	2769797	6470639	128535877	16	55825											
TUB	7275	broad.mit.edu	37	chr11	8115663	8115663	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acagcaccagcttcagccaaGagaaccaaggcggcagctac	14	3	10	14	1	1	1	1	0	0	1	1	2	1	1	3	2	6	4	3	2	4	2			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8115663G>C	ENST00000305253.4	+	5	730	c.489G>C	c.(487-489)aaG>aaC	p.K163N	TUB_ENST00000299506.2_Missense_Mutation_p.K108N|TUB_ENST00000534099.1_Missense_Mutation_p.K114N	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	108					phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		CTTCAGCCAAGAGAACCAAGG	0.602													C	8115663	G	C	8115663	3	2	735	1	0	0	0	0	1	0	0	0	16844	933	33	4	549	4	TUB	11	8115663	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	1645024	8115663	126890853	17	55826											
TUB	7275	broad.mit.edu	37	chr11	8117074	8117074	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggccagcagcactggcagaaGacaagtctgaggcccaaggc	12	3	14	12	0	1	3	0	1	1	2	1	3	1	3	2	4	2	3	2	4	3	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:8117074G>C	ENST00000305253.4	+	6	833	c.592G>C	c.(592-594)Gac>Cac	p.D198H	TUB_ENST00000299506.2_Missense_Mutation_p.D143H|TUB_ENST00000534099.1_Missense_Mutation_p.D149H	NM_003320.4	NP_003311.2	P50607	TUB_HUMAN	tubby bipartite transcription factor	143	Asp/Glu-rich.				phagocytosis|positive regulation of phagocytosis|response to stimulus	cytoplasm|extracellular region|nucleus|plasma membrane				breast(1)|cervix(1)|endometrium(9)|large_intestine(7)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	26		all_lung(207;6.91e-20)|Lung NSC(207;3.36e-17)		Epithelial(150;1.69e-62)|BRCA - Breast invasive adenocarcinoma(625;8.54e-06)|LUSC - Lung squamous cell carcinoma(625;0.000184)		ACTGGCAGAAGACAAGTCTGA	0.652													C	8117074	G	C	8117074	3	2	735	1	0	0	0	0	1	0	0	0	16844	942	33	4	656	4	TUB	11	8117074	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	1411	8117074	126889442	18	55827											
MS4A4A	51338	broad.mit.edu	37	chr11	60059749	60059749	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaatggaacaggccatgccAggggctggccctggtgtgcc	7	6	17	11	0	0	0	0	0	0	0	0	2	0	2	4	7	3	1	4	7	2	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:60059749A>G	ENST00000355131.3	+	3	259	c.36A>G	c.(34-36)ccA>ccG	p.P12P	MS4A4A_ENST00000337908.4_Silent_p.P31P|MS4A4A_ENST00000395016.3_Silent_p.P12P|MS4A4A_ENST00000532114.1_Silent_p.P31P	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	31						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						AGGCCATGCCAGGGGCTGGCC	0.473													G	60059749	A	G	60059749	2	3	735	1	0	0	0	0	0	0	0	1	9938	175	7	3		3	MS4A4A	11	60059749	Silent	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08	51942675	60059749	74946767	19	55828											
MEN1	4221	broad.mit.edu	37	chr11	64571946	64571946	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttgatcttggtggccaccaGcagctccttcatgcccttca	6	12	9	14	0	3	1	2	1	1	0	4	1	4	1	4	2	3	3	4	2	0	4			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr11:64571946G>A	ENST00000337652.1	-	10	2211	c.1708C>T	c.(1708-1710)Ctg>Ttg	p.L570L	MEN1_ENST00000377321.1_Silent_p.L530L|MEN1_ENST00000443283.1_Silent_p.L570L|MEN1_ENST00000377313.1_Silent_p.L570L|MEN1_ENST00000312049.6_Silent_p.L565L|MEN1_ENST00000478548.1_5'UTR|MEN1_ENST00000394376.1_Silent_p.L570L|MEN1_ENST00000394374.2_Silent_p.L570L|MEN1_ENST00000377326.3_Silent_p.L565L|MEN1_ENST00000377316.2_Silent_p.L510L|MEN1_ENST00000315422.4_Silent_p.L565L	NM_130803.2	NP_570715	O00255	MEN1_HUMAN	multiple endocrine neoplasia I	570					DNA repair|histone lysine methylation|MAPKKK cascade|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|negative regulation of JNK cascade|negative regulation of osteoblast differentiation|negative regulation of protein phosphorylation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of telomerase activity|negative regulation of transcription from RNA polymerase II promoter|osteoblast development|positive regulation of protein binding|positive regulation of transforming growth factor beta receptor signaling pathway|response to gamma radiation|response to UV|transcription, DNA-dependent	chromatin|cleavage furrow|cytosol|histone methyltransferase complex|nuclear matrix|soluble fraction	double-stranded DNA binding|four-way junction DNA binding|protein binding, bridging|protein N-terminus binding|R-SMAD binding|transcription regulatory region DNA binding|Y-form DNA binding			NS(7)|adrenal_gland(5)|breast(2)|central_nervous_system(5)|endometrium(1)|gastrointestinal_tract_(site_indeterminate)(15)|large_intestine(2)|lung(21)|ovary(1)|pancreas(64)|parathyroid(181)|pituitary(7)|prostate(4)|retroperitoneum(1)|skin(1)|small_intestine(13)|soft_tissue(4)|stomach(1)|thymus(2)	337						GTGGCCACCAGCAGCTCCTTC	0.577			"D, Mis, N, F, S"		"parathyroid tumors, Pancreatic neuroendocrine tumors"	"parathyroid adenoma, pituitary adenoma, pancreatic islet cell, carcinoid"			Multiple Endocrine Neoplasia, type 1;Hyperparathyroidism, Familial Isolated				A	64571946	G	A	64571946	2	1	735	1	0	0	0	0	0	0	0	1	9547	962	34	2		2	MEN1	11	64571946	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	4512197	64571946	70434570	20	55829											
LHFP	10186	broad.mit.edu	37	chr13	39918104	39918104	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agtgcttctgtttcttgcccGaaaagcaagccagccacgtg	9	10	10	12	2	2	0	0	0	2	0	2	1	2	0	3	0	5	3	3	0	3	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr13:39918104G>A	ENST00000379589.3	-	4	1034	c.572C>T	c.(571-573)tCg>tTg	p.S191L		NM_005780.2	NP_005771.1	Q9Y693	LHFP_HUMAN	lipoma HMGIC fusion partner	191						integral to membrane	DNA binding		HMGA2/LHFP(2)	breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(6)|prostate(2)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00408)|Ovarian(182;0.0107)|Prostate(109;0.0118)|Lung SC(185;0.0719)|Hepatocellular(188;0.114)		OV - Ovarian serous cystadenocarcinoma(117;6.48e-46)|Epithelial(112;8.43e-42)|all cancers(112;1.42e-36)|GBM - Glioblastoma multiforme(144;0.00187)|BRCA - Breast invasive adenocarcinoma(63;0.00886)|KIRC - Kidney renal clear cell carcinoma(186;0.048)|Kidney(163;0.0601)|LUSC - Lung squamous cell carcinoma(192;0.105)		TTTCTTGCCCGAAAAGCAAGC	0.557			T	HMGA2	lipoma								A	39918104	G	A	39918104	3	1	735	1	0	0	0	0	1	0	0	0	8823	1059	37	1	34	1	LHFP	13	39918104	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		39918104	75251774	21	55830											
MYO9A	4649	broad.mit.edu	37	chr15	72324886	72324886	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttgaataaacttcccaaaaCgacttgaattgttattatga	15	14	5	7	1	0	3	0	3	0	0	1	4	1	3	1	0	2	1	1	0	8	7			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr15:72324886C>T	ENST00000356056.5	-	3	1356	c.884G>A	c.(883-885)cGt>cAt	p.R295H	MYO9A_ENST00000566885.1_5'UTR|RP11-390D11.1_ENST00000568391.1_RNA|MYO9A_ENST00000444904.1_Missense_Mutation_p.R295H|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000424560.1_Missense_Mutation_p.R295H|MYO9A_ENST00000564571.1_Missense_Mutation_p.R295H	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	295	Myosin head-like 1.				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						CTTCCCAAAACGACTTGAATT	0.328													T	72324886	C	T	72324886	3	4	735	1	0	0	0	0	1	0	0	0	10160	536	19	1	6922	1	MYO9A	15	72324886	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		72324886	30206506	22	55831											
ABCC6	368	broad.mit.edu	37	chr16	16276377	16276377	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggtgggtccagctcctgcccGaagcacacattctctaccac	8	8	9	16	1	1	0	0	0	1	0	4	1	3	0	4	2	4	2	4	2	2	2	rs115546382	by1000genomes	TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:16276377G>A	ENST00000205557.7	-	17	2168	c.2139C>T	c.(2137-2139)ttC>ttT	p.F713F	ABCC6_ENST00000574094.1_Intron	NM_001171.5	NP_001162	O95255	MRP6_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 6	713	ABC transporter 1.				response to drug|visual perception	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(10)|lung(10)|ovary(1)|skin(6)|urinary_tract(1)	43				UCEC - Uterine corpus endometrioid carcinoma (3;0.123)		GCTCCTGCCCGAAGCACACAT	0.567													A	16276377	G	A	16276377	2	1	735	1	0	0	0	0	0	0	0	1	57	1049	37	1		1	ABCC6	16	16276377	Silent	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		16276377	74078376	23	55832											
SULT1A2	6799	broad.mit.edu	37	chr16	28606753	28606753	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtgtgtcttcaggagtcGtggggctggtgtgtttttca	4	15	16	6	1	3	0	2	0	1	0	4	1	3	1	0	5	0	2	0	5	0	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr16:28606753G>A	ENST00000395630.1	-	4	657	c.307C>T	c.(307-309)Cga>Tga	p.R103*	SULT1A2_ENST00000335715.4_Nonsense_Mutation_p.R103*|SULT1A2_ENST00000533150.1_Missense_Mutation_p.T131M	NM_177528.2	NP_803564	P50226	ST1A2_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 2	103					3'-phosphoadenosine 5'-phosphosulfate metabolic process|amine biosynthetic process|catecholamine metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			NS(2)|breast(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(3)|skin(2)	14						TTCAGGAGTCGTGGGGCTGGT	0.592													A	28606753	G	A	28606753	4	1	735	1	0	0	0	0	0	1	0	0	15469	1153	40	1	600	1	SULT1A2	16	28606753	Nonsense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	12330376	28606753	61748000	24	55833											
TP53	7157	broad.mit.edu	37	chr17	7579312	7579312	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcccctcagggcaactgacCgtgcaagtcacagacttggc	10	6	11	14	1	2	2	2	1	0	1	2	2	2	2	3	2	3	2	3	2	2	1	rs55863639		TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:7579312C>T	ENST00000420246.2	-	4	507	c.375G>A	c.(373-375)acG>acA	p.T125T	TP53_ENST00000455263.2_Splice_Site_p.T125T|TP53_ENST00000413465.2_Splice_Site_p.T125T|TP53_ENST00000269305.4_Splice_Site_p.T125T|TP53_ENST00000445888.2_Splice_Site_p.T125T|TP53_ENST00000359597.4_Splice_Site_p.T125T	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	125	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		T -> A (in a sporadic cancer; somatic mutation).|T -> K (in sporadic cancers; somatic mutation).|T -> M (in sporadic cancers; somatic mutation).|T -> P (in a sporadic cancer; somatic mutation).|T -> R (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.T125T(51)|p.0?(8)|p.?(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(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)		GGCAACTGACCGTGCAAGTCA	0.537		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)			T	7579312	C	T	7579312	5	4	735	1	0	0	0	0	0	0	1	0	16482	666	23	1	927	1	TP53	17	7579312	Splice_Site	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		7579312	73615898	25	55834											
SPAG5	10615	broad.mit.edu	37	chr17	26912593	26912593	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagaaggcctctgaattcccGcatggatgctaggtcctgtt	8	11	11	11	1	1	2	0	1	1	1	3	3	3	3	3	3	1	3	3	3	3	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr17:26912593G>A	ENST00000321765.5	-	8	2151	c.1819C>T	c.(1819-1821)Cgg>Tgg	p.R607W		NM_006461.3	NP_006452.3	Q96R06	SPAG5_HUMAN	sperm associated antigen 5	607					cell division|mitosis|phosphatidylinositol-mediated signaling|spindle organization	condensed chromosome kinetochore|cytoplasm|spindle pole	protein binding	p.R607W(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(17)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	43	Lung NSC(42;0.00431)					CTGAATTCCCGCATGGATGCT	0.537													A	26912593	G	A	26912593	3	1	735	1	0	0	0	0	1	0	0	0	15077	1086	38	1	1830	1	SPAG5	17	26912593	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08	19333281	26912593	54282617	26	55835											
SMARCA4	6597	broad.mit.edu	37	chr19	11123706	11123706	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgagatgggcctggggaagAccatccagaccatcgcgctc	10	5	13	13	3	0	3	0	0	0	3	3	5	1	4	4	3	0	1	4	3	1	0			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:11123706A>G	ENST00000358026.2	+	16	2640	c.2356A>G	c.(2356-2358)Acc>Gcc	p.T786A	SMARCA4_ENST00000413806.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000541122.2_Missense_Mutation_p.T786A|SMARCA4_ENST00000444061.3_Missense_Mutation_p.T786A|CTC-215O4.4_ENST00000587831.1_RNA|SMARCA4_ENST00000429416.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000450717.3_Missense_Mutation_p.T786A|SMARCA4_ENST00000344626.4_Missense_Mutation_p.T786A|SMARCA4_ENST00000590574.1_Missense_Mutation_p.T786A|SMARCA4_ENST00000589677.1_Missense_Mutation_p.T786A	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	786	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CCTGGGGAAGACCATCCAGAC	0.577			"F, N, Mis"		NSCLC								G	11123706	A	G	11123706	3	3	735	1	0	0	0	0	1	0	0	0	14864	275	10	3	2414	3	SMARCA4	19	11123706	Missense_Mutation	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08		11123706	48005277	27	55836											
OR7A17	26333	broad.mit.edu	37	chr19	14991465	14991465	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaggtggaaaatgccttgtActtcccctgagctgatgaga	11	10	11	9	0	0	3	0	3	0	1	1	5	1	4	3	2	3	2	3	2	3	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:14991465A>T	ENST00000327462.2	-	1	799	c.703T>A	c.(703-705)Tac>Aac	p.Y235N		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	235					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					AATGCCTTGTACTTCCCCTGA	0.502													T	14991465	A	T	14991465	3	4	735	1	0	0	0	0	1	0	0	0	11291	391	14	5	228	5	OR7A17	19	14991465	Missense_Mutation	SNP	A	TCGA-S9-A7R4-01A-12D-A34J-08	3867759	14991465	44137518	28	55837											
NUDT19	390916	broad.mit.edu	37	chr19	33183494	33183494	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ctttcttgcggggcaccactCgccgctttgacacggccttc	4	11	10	16	4	1	1	0	1	1	0	3	1	1	1	3	3	1	2	3	3	0	4			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:33183494C>G	ENST00000397061.3	+	1	628	c.628C>G	c.(628-630)Cgc>Ggc	p.R210G		NM_001105570.1	NP_001099040.1	A8MXV4	NUD19_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 19	210	Nudix hydrolase.					mitochondrion|peroxisome	hydrolase activity|metal ion binding			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	8	Esophageal squamous(110;0.137)					GGGCACCACTCGCCGCTTTGA	0.677													G	33183494	C	G	33183494	3	3	735	1	0	0	0	0	1	0	0	0	10812	884	31	4	630	4	NUDT19	19	33183494	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	18192029	33183494	25945489	29	55838											
NKPD1	284353	broad.mit.edu	37	chr19	45656283	45656283	+	Frame_Shift_Del	DEL	C	C	-																															tgttgatggcgttgagcacgCccaccacgcgctccgggtag																										TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr19:45656283delC	ENST00000317951.4	-	4	1411	c.1412delG	c.(1411-1413)ggcfs	p.G471fs	NKPD1_ENST00000438936.2_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000589776.1_Frame_Shift_Del_p.G249fs|NKPD1_ENST00000429338.1_Frame_Shift_Del_p.G249fs	NM_198478.3	NP_940880.3			NTPase, KAP family P-loop domain containing 1											endometrium(1)|lung(4)|prostate(2)|urinary_tract(1)	8		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00863)|GBM - Glioblastoma multiforme(486;0.231)		GTTGAGCACGCCCACCACGCG	0.662													-	45656283	C	-	45656283	7	5	735	1	0	1	0	1	0	0	0	0	10522	739	26	0	1090	0	NKPD1	19	45656283	Frame_Shift_Del	DEL	C	TCGA-S9-A7R4-01A-12D-A34J-08	12472789	45656283	13472700	30	55839											
KIF16B	55614	broad.mit.edu	37	chr20	16352371	16352371	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgatgcaaatcctgaaggCgtctttggacttcttcttca	9	13	8	11	2	4	1	1	1	3	0	5	3	5	2	1	2	1	1	1	2	2	4			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:16352371C>T	ENST00000354981.2	-	21	3543	c.3386G>A	c.(3385-3387)cGc>cAc	p.R1129H	KIF16B_ENST00000408042.1_Missense_Mutation_p.R1129H|KIF16B_ENST00000378003.2_Missense_Mutation_p.R355H|KIF16B_ENST00000355755.3_Missense_Mutation_p.R1129H	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	1129					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						ATCCTGAAGGCGTCTTTGGAC	0.443													T	16352371	C	T	16352371	3	4	735	1	0	0	0	0	1	0	0	0	8336	768	27	1	591	1	KIF16B	20	16352371	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		16352371	46673149	31	55840											
ZNF217	7764	broad.mit.edu	37	chr20	52199070	52199070	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatactctgcttcaaccCgaagaactgctggttcacag	11	10	9	11	1	3	2	2	1	1	2	3	4	3	2	1	1	5	3	1	1	4	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr20:52199070C>T	ENST00000371471.2	-	2	721	c.296G>A	c.(295-297)cGg>cAg	p.R99Q	ZNF217_ENST00000302342.3_Missense_Mutation_p.R99Q			O75362	ZN217_HUMAN	zinc finger protein 217	99					negative regulation of transcription, DNA-dependent	histone deacetylase complex	protein binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(17)|ovary(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	50	all_cancers(1;6.75e-17)|all_epithelial(1;1.76e-18)|Breast(2;3.83e-14)|Lung NSC(4;9.04e-07)|all_lung(4;2.5e-06)|Ovarian(1;0.0398)		BRCA - Breast invasive adenocarcinoma(1;9.88e-17)|Epithelial(1;1.56e-14)|all cancers(1;9.44e-13)|STAD - Stomach adenocarcinoma(23;0.0474)|Colorectal(105;0.198)			TGCTTCAACCCGAAGAACTGC	0.443													T	52199070	C	T	52199070	3	4	735	1	0	0	0	0	1	0	0	0	17873	652	23	1	2866	1	ZNF217	20	52199070	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	35846699	52199070	10826450	32	55841											
SYNJ1	8867	broad.mit.edu	37	chr21	34029205	34029205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atctatatcaatcagggcaaCgacaggccttaaggcataaa	16	8	8	9	1	3	0	2	0	1	0	3	1	3	0	1	3	1	2	1	3	7	4			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:34029205C>T	ENST00000382499.2	-	21	2703	c.2704G>A	c.(2704-2706)Gtt>Att	p.V902I	SYNJ1_ENST00000433931.2_Missense_Mutation_p.V902I|SYNJ1_ENST00000357345.3_Missense_Mutation_p.V863I|SYNJ1_ENST00000464778.1_5'UTR|SYNJ1_ENST00000382491.3_Missense_Mutation_p.V858I|SYNJ1_ENST00000322229.7_Missense_Mutation_p.V863I	NM_203446.2	NP_982271.2	O43426	SYNJ1_HUMAN	synaptojanin 1	863	Pro-rich.|RRM.						inositol-polyphosphate 5-phosphatase activity|nucleotide binding|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|RNA binding			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|lung(11)|ovary(4)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	57						ATCAGGGCAACGACAGGCCTT	0.343													T	34029205	C	T	34029205	3	4	735	1	0	0	0	0	1	0	0	0	15549	536	19	1	2207	1	SYNJ1	21	34029205	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08		34029205	14100690	33	55842											
KCNJ6	3763	broad.mit.edu	37	chr21	38997768	38997768	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cactggtgatgtaggagcttCgagcttggcatgtcatccct	7	12	12	10	1	1	1	1	1	0	0	3	3	2	2	1	3	2	4	1	3	1	3			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr21:38997768C>T	ENST00000609713.1	-	4	1554	c.965G>A	c.(964-966)cGa>cAa	p.R322Q	KCNJ6_ENST00000288309.6_Missense_Mutation_p.R322Q	NM_002240.3	NP_002231.1	P48051	IRK6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6						synaptic transmission	Golgi apparatus|voltage-gated potassium channel complex	G-protein activated inward rectifier potassium channel activity|protein binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTAGGAGCTTCGAGCTTGGCA	0.527													T	38997768	C	T	38997768	3	4	735	1	0	0	0	0	1	0	0	0	8113	884	31	1	310	1	KCNJ6	21	38997768	Missense_Mutation	SNP	C	TCGA-S9-A7R4-01A-12D-A34J-08	4968563	38997768	9132127	34	55843											
MAPK8IP2	23542	broad.mit.edu	37	chr22	51044141	51044141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctacgcccatgcggtgcccGgccctgccaaggacctgctg	5	7	12	17	3	1	0	0	0	1	0	1	1	1	1	5	3	5	1	5	3	2	1			TCGA-S9-A7R4-01A-12D-A34J-08	TCGA-S9-A7R4-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f77ca901-4d4e-4546-a3a7-5fa393048ced	b8ca7b93-4eed-481e-a278-bd6be09075d6	g.chr22:51044141G>A	ENST00000399908.2	+	5	1911	c.1195G>A	c.(1195-1197)Ggc>Agc	p.G399S	MAPK8IP2_ENST00000341339.4_Missense_Mutation_p.G285S|MAPK8IP2_ENST00000442429.2_Missense_Mutation_p.G387S|MAPK8IP2_ENST00000329492.3_Missense_Mutation_p.G664S|MAPK8IP2_ENST00000399912.1_Missense_Mutation_p.G399S|MAPK8IP2_ENST00000008876.5_Missense_Mutation_p.G370S	NM_016431.3	NP_057515.1	Q13387	JIP2_HUMAN	mitogen-activated protein kinase 8 interacting protein 2	665					behavioral fear response|dendrite morphogenesis|MAPKKK cascade|nonassociative learning|positive regulation of anti-apoptosis|regulation of excitatory postsynaptic membrane potential|regulation of JNK cascade|regulation of receptor activity|regulation of synaptic transmission, glutamatergic|signal complex assembly|social behavior	cytoplasm|postsynaptic density	beta-amyloid binding|kinesin binding|MAP-kinase scaffold activity|protein kinase activator activity|protein kinase binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)	7		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		OV - Ovarian serous cystadenocarcinoma(4;1.28e-70)|Epithelial(4;3.46e-65)|GBM - Glioblastoma multiforme(4;4.83e-06)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		TGCGGTGCCCGGCCCTGCCAA	0.672													A	51044141	G	A	51044141	3	1	735	1	0	0	0	0	1	0	0	0	9360	1116	39	1	2108	1	MAPK8IP2	22	51044141	Missense_Mutation	SNP	G	TCGA-S9-A7R4-01A-12D-A34J-08		51044141	260425	35	55844											
MIB2	142678	broad.mit.edu	37	chr1	1564066	1564067	+	Frame_Shift_Ins	INS	-	-	G																															ccctggtggctgatggggccINSgggggggacccagggccctt																										TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:1564066_1564067insG	ENST00000357210.4	+	16	2556_2557	c.2340_2341insG	c.(2341-2343)gggfs	p.G781fs	MIB2_ENST00000378712.1_Frame_Shift_Ins_p.G658fs|MIB2_ENST00000378708.1_Frame_Shift_Ins_p.G687fs|MIB2_ENST00000355826.5_Frame_Shift_Ins_p.G824fs|MIB2_ENST00000518681.1_Frame_Shift_Ins_p.G773fs|MIB2_ENST00000360522.4_Frame_Shift_Ins_p.G746fs|MIB2_ENST00000504599.1_Frame_Shift_Ins_p.G737fs|MIB2_ENST00000520777.1_Frame_Shift_Ins_p.G834fs|MIB2_ENST00000378710.3_Frame_Shift_Ins_p.G745fs|MIB2_ENST00000505820.2_Frame_Shift_Ins_p.G838fs	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	781					Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CTGATGGGGCCGGGGGGGACCC	0.713													G	1564067	-	G	1564066	7	5	736	1	0	1	1	0	0	0	0	0	9642	639	23	0	2573	0	MIB2	1	1564066	Frame_Shift_Ins	INS	-	TCGA-S9-A7R7-01A-11D-A34J-08		1564066	247686555	1	55845											
GBP5	115362	broad.mit.edu	37	chr1	89729445	89729445	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcctttccgaggctcccgatAgtactttgccttcagttctt	5	16	7	13	2	2	0	1	0	1	0	5	2	5	0	4	1	2	3	4	1	2	7			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:89729445A>G	ENST00000343435.5	-	9	1872	c.1336T>C	c.(1336-1338)Tat>Cat	p.Y446H	RP4-620F22.2_ENST00000437128.1_RNA|GBP5_ENST00000370459.3_Missense_Mutation_p.Y446H	NM_001134486.2|NM_052942.3	NP_001127958.1|NP_443174.1	Q96PP8	GBP5_HUMAN	guanylate binding protein 5	446						plasma membrane	GTP binding|GTPase activity			breast(1)|endometrium(1)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)	24				all cancers(265;0.00784)|Epithelial(280;0.0286)		GGCTCCCGATAGTACTTTGCC	0.428													G	89729445	A	G	89729445	3	3	736	1	0	0	0	0	1	0	0	0	6331	420	15	3	440	3	GBP5	1	89729445	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	88165379	89729445	159521176	2	55846											
MNDA	4332	broad.mit.edu	37	chr1	158815468	158815468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtggtactgaaagcaacagCgccatttaaatacgagtccc	13	8	10	10	2	0	1	0	1	0	0	1	2	1	1	2	2	5	2	2	2	6	4			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr1:158815468C>T	ENST00000368141.4	+	5	923	c.662C>T	c.(661-663)gCg>gTg	p.A221V		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	221	HIN-200.				B cell receptor signaling pathway|cellular defense response|negative regulation of B cell proliferation|positive regulation of apoptosis|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					AAAGCAACAGCGCCATTTAAA	0.468													T	158815468	C	T	158815468	3	4	736	1	0	0	0	0	1	0	0	0	9752	768	27	1	676	1	MNDA	1	158815468	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	69086023	158815468	90435153	3	55847											
BRE	9577	broad.mit.edu	37	chr2	28521236	28521236	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttttccctcgagaccaGccaactctcacatttcagtc	8	13	5	15	1	2	1	2	0	1	1	6	2	3	1	3	0	2	1	3	0	1	3			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:28521236G>A	ENST00000344773.2	+	11	1104	c.966G>A	c.(964-966)caG>caA	p.Q322Q	BRE_ENST00000379624.1_Silent_p.Q322Q|BRE_ENST00000361704.2_Silent_p.Q322Q|BRE_ENST00000379632.2_Silent_p.Q322Q|BRE_ENST00000342045.2_Silent_p.Q322Q	NM_004899.4	NP_004890.2	Q9NXR7	BRE_HUMAN	brain and reproductive organ-expressed (TNFRSF1A modulator)	322	UEV-like 2.				apoptosis|chromatin modification|double-strand break repair|G2/M transition DNA damage checkpoint|positive regulation of anti-apoptosis|positive regulation of DNA repair|response to ionizing radiation|signal transduction	BRCA1-A complex|BRISC complex|cytoplasm|nuclear ubiquitin ligase complex	peroxisome targeting sequence binding|polyubiquitin binding|tumor necrosis factor receptor binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|prostate(2)|skin(2)	23	Acute lymphoblastic leukemia(172;0.155)					CTCGAGACCAGCCAACTCTCA	0.408													A	28521236	G	A	28521236	2	1	736	1	0	0	0	0	0	0	0	1	1518	962	34	2		2	BRE	2	28521236	Silent	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		28521236	214678137	4	55848											
CEBPZ	10153	broad.mit.edu	37	chr2	37439481	37439481	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agatagaagtatgttacccaGcaaaatccatatcatccttt	15	12	5	9	0	1	2	1	0	0	2	3	2	3	2	3	0	2	3	3	0	7	5			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:37439481G>A	ENST00000234170.5	-	11	2745	c.2600C>T	c.(2599-2601)gCt>gTt	p.A867V	AC007390.5_ENST00000397064.2_Intron|RP11-423P10.2_ENST00000606229.1_RNA	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	867					regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	nucleus	DNA binding			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				ATGTTACCCAGCAAAATCCAT	0.378													A	37439481	G	A	37439481	3	1	736	1	0	0	0	0	1	0	0	0	3234	971	34	2	588	2	CEBPZ	2	37439481	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	8918245	37439481	205759892	5	55849											
PGAP1	80055	broad.mit.edu	37	chr2	197761856	197761856	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtttaaaaatacatactTgtttagtatcagcatcaata	16	16	4	5	0	2	0	2	0	0	0	2	0	2	0	0	0	3	4	0	0	10	10			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:197761856T>C	ENST00000354764.4	-	7	1040	c.926A>G	c.(925-927)cAa>cGa	p.Q309R	PGAP1_ENST00000409475.1_Splice_Site_p.Q309R|PGAP1_ENST00000485830.1_5'UTR|PGAP1_ENST00000409188.1_Splice_Site_p.Q267R	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1						attachment of GPI anchor to protein|C-terminal protein lipidation|intracellular protein transport|myo-inositol transport	integral to membrane|intrinsic to endoplasmic reticulum membrane	nuclease activity|phosphoric ester hydrolase activity			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						AATACATACTTGTTTAGTATC	0.254													C	197761856	T	C	197761856	5	2	736	1	0	0	0	0	0	0	1	0	11854	1826	63	3	1926	3	PGAP1	2	197761856	Splice_Site	SNP	T	TCGA-S9-A7R7-01A-11D-A34J-08	160322375	197761856	45437517	6	55850											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	736	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	11351256	209113112	34086261	7	55851											
OSBPL10	114884	broad.mit.edu	37	chr3	31725336	31725336	+	Frame_Shift_Del	DEL	G	G	-																															gtgacagctggcaggagagcGggaagcagtcctcttaggct																										TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:31725336delG	ENST00000396556.2	-	8	1638	c.1516delC	c.(1516-1518)cgcfs	p.R506fs	OSBPL10_ENST00000438237.2_Frame_Shift_Del_p.R442fs	NM_017784.4	NP_060254.2	Q9BXB5	OSB10_HUMAN	oxysterol binding protein-like 10	506					lipid transport		lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	34				STAD - Stomach adenocarcinoma(1;0.00406)		GCAGGAGAGCGGGAAGCAGTC	0.542													-	31725336	G	-	31725336	7	5	736	1	0	1	0	1	0	0	0	0	11351	1116	39	0	798	0	OSBPL10	3	31725336	Frame_Shift_Del	DEL	G	TCGA-S9-A7R7-01A-11D-A34J-08		31725336	166297094	8	55852											
CAMKV	79012	broad.mit.edu	37	chr3	49899247	49899247	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaggaagataaagtactcCttgcgggtcacaaacacatc	14	8	8	11	1	1	1	1	0	0	1	4	2	3	2	2	2	3	1	2	2	5	3			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:49899247C>T	ENST00000477224.1	-	4	757	c.279G>A	c.(277-279)aaG>aaA	p.K93K	CAMKV_ENST00000498324.1_5'UTR|CAMKV_ENST00000488336.1_Silent_p.K93K|CAMKV_ENST00000467248.1_Silent_p.K18K|CAMKV_ENST00000296471.7_Silent_p.K93K|CAMKV_ENST00000463537.1_Silent_p.K93K|CAMKV_ENST00000466940.1_Silent_p.K93K			Q8NCB2	CAMKV_HUMAN	CaM kinase-like vesicle-associated	93	Protein kinase.					cytoplasmic vesicle membrane|plasma membrane	ATP binding|protein serine/threonine kinase activity			central_nervous_system(1)|large_intestine(2)|lung(2)|ovary(2)	7				BRCA - Breast invasive adenocarcinoma(193;4.62e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TAAAGTACTCCTTGCGGGTCA	0.582													T	49899247	C	T	49899247	2	4	736	1	0	0	0	0	0	0	0	1	2634	680	24	2		2	CAMKV	3	49899247	Silent	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	18173911	49899247	148123183	9	55853											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	736	1	0	0	0	0	1	0	0	0	11990	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	129052838	178952085	19070345	10	55854											
TULP1	7287	broad.mit.edu	37	chr6	35466203	35466203	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctagggtgaaggcgtcctcCgccacgcggccgaactgcag	7	6	14	14	5	1	1	0	1	1	0	3	2	3	1	4	3	2	1	4	3	3	1			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:35466203C>T	ENST00000229771.6	-	15	1609	c.1530G>A	c.(1528-1530)gcG>gcA	p.A510A	TULP1_ENST00000322263.4_Silent_p.A457A	NM_003322.3	NP_003313.3	O00294	TULP1_HUMAN	tubby like protein 1	510					dendrite development|eye photoreceptor cell development|phagocytosis|photoreceptor cell maintenance|positive regulation of phagocytosis	cell junction|cytoplasm|extracellular region|photoreceptor inner segment|photoreceptor outer segment|synapse	actin filament binding|phosphatidylinositol-4,5-bisphosphate binding			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	19						AGGCGTCCTCCGCCACGCGGC	0.662													T	35466203	C	T	35466203	2	4	736	1	0	0	0	0	0	0	0	1	16875	639	23	1		1	TULP1	6	35466203	Silent	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		35466203	135648864	11	55855											
UTRN	7402	broad.mit.edu	37	chr6	144820553	144820553	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgacttggatacagaaatttCctgggctaaagtaagttgca	13	12	10	6	0	0	2	0	1	0	1	1	3	1	3	1	2	2	4	1	2	5	6			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr6:144820553C>T	ENST00000367545.3	+	33	4754	c.4754C>T	c.(4753-4755)tCc>tTc	p.S1585F		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1585	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ACAGAAATTTCCTGGGCTAAA	0.473													T	144820553	C	T	144820553	3	4	736	1	0	0	0	0	1	0	0	0	17205	855	30	2	4884	2	UTRN	6	144820553	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	109354350	144820553	26294514	12	55856											
SLC13A1	6561	broad.mit.edu	37	chr7	122763178	122763178	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcttacacacagagtattAcctcacaaccatctgccagg	13	10	5	13	0	3	1	1	0	2	1	3	1	3	1	3	1	4	1	3	1	5	4			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr7:122763178A>T	ENST00000194130.2	-	12	1390		c.e12+1		SLC13A1_ENST00000539873.1_Splice_Site	NM_022444.3	NP_071889.2	Q9BZW2	S13A1_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 1							integral to membrane|plasma membrane	sodium:sulfate symporter activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	45					Succinic acid(DB00139)	ACAGAGTATTACCTCACAACC	0.403													T	122763178	A	T	122763178	5	4	736	1	0	0	0	0	0	0	1	0	14485	405	14	5	451	5	SLC13A1	7	122763178	Splice_Site	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08		122763178	36375485	13	55857											
USP20	10868	broad.mit.edu	37	chr9	132620353	132620353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcccctatgttggctgcGgagaatcctttgctgaccac	6	11	10	14	1	0	2	0	1	0	1	1	3	1	2	5	2	3	3	5	2	2	3			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr9:132620353G>A	ENST00000315480.4	+	5	318	c.160G>A	c.(160-162)Gga>Aga	p.G54R	USP20_ENST00000358355.1_Missense_Mutation_p.G54R|USP20_ENST00000372429.3_Missense_Mutation_p.G54R			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	54					endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				TGTTGGCTGCGGAGAATCCTT	0.562													A	132620353	G	A	132620353	3	1	736	1	0	0	0	0	1	0	0	0	17154	1117	39	1	170	1	USP20	9	132620353	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		132620353	8593078	14	55858											
OR4C46	119749	broad.mit.edu	37	chr11	51515455	51515455	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcactggggtcccccatgtaCctttccctggcctatctctc	4	13	7	17	0	2	0	1	0	1	0	6	0	4	0	5	3	1	1	5	3	2	3	rs138769000		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:51515455C>A	ENST00000328188.1	+	1	174	c.174C>A	c.(172-174)taC>taA	p.Y58*		NM_001004703.1	NP_001004703.1	A6NHA9	O4C46_HUMAN	olfactory receptor, family 4, subfamily C, member 46	58					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(5)|large_intestine(5)|lung(31)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	48						CCCCCATGTACCTTTCCCTGG	0.458													A	51515455	C	A	51515455	4	1	736	1	0	0	0	0	0	1	0	0	11127	518	18	4	176	4	OR4C46	11	51515455	Nonsense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		51515455	83491061	15	55859											
MAP6	4135	broad.mit.edu	37	chr11	75298872	75298872	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaggaccttgatcctttagAgactctggtaccacagagcc	10	10	9	12	0	1	3	0	1	1	2	2	5	2	4	4	2	2	1	4	2	3	5			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr11:75298872A>T	ENST00000304771.3	-	4	2424	c.1674T>A	c.(1672-1674)tcT>tcA	p.S558S	MAP6_ENST00000526740.1_Silent_p.S229S|CTD-2530H12.4_ENST00000527803.1_RNA	NM_033063.1	NP_149052.1	Q96JE9	MAP6_HUMAN	microtubule-associated protein 6	558	Pro-rich.					Golgi apparatus|microtubule|perinuclear region of cytoplasm	calmodulin binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	19	Ovarian(111;0.11)					GATCCTTTAGAGACTCTGGTA	0.502													T	75298872	A	T	75298872	2	4	736	1	0	0	0	0	0	0	0	1	9339	291	11	5		5	MAP6	11	75298872	Silent	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	23783417	75298872	59707644	16	55860											
ST8SIA1	6489	broad.mit.edu	37	chr12	22440124	22440129	+	In_Frame_Del	DEL	AGTATA	AGTATA	-																															tgaattgtcaatggtgaatgAgtataaaaactccccgtcat																										TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:22440124_22440129delAGTATA	ENST00000396037.4	-	2	816_821	c.335_340delTATACT	c.(334-342)ttatactca>tca	p.LY112del	ST8SIA1_ENST00000539510.1_In_Frame_Del_p.YT6del	NM_003034.3	NP_003025.1	Q92185	SIA8A_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 1	112					glycosphingolipid biosynthetic process|protein glycosylation	integral to Golgi membrane	alpha-N-acetylneuraminate alpha-2,8-sialyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	25						ATGGTGAATGAGTATAAAAACTCCCC	0.413													-	22440129	AGTATA	-	22440124	7	5	736	1	0	1	0	1	0	0	0	0	15327	304	11	0	746	0	ST8SIA1	12	22440124	In_Frame_Del	DEL	AGTATA	TCGA-S9-A7R7-01A-11D-A34J-08		22440124	111411771	17	55861											
LMBR1L	55716	broad.mit.edu	37	chr12	49494380	49494380	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatctgggccgcaggctccGgaagagtggagagctataga	10	6	15	10	2	1	3	0	0	1	3	2	5	2	4	3	4	1	3	3	4	3	2			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr12:49494380G>A	ENST00000267102.8	-	14	1474	c.1132C>T	c.(1132-1134)Cgg>Tgg	p.R378W	LMBR1L_ENST00000395141.4_Missense_Mutation_p.R373W|LMBR1L_ENST00000547382.1_Missense_Mutation_p.R358W	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	378					endocytosis	integral to membrane|plasma membrane	receptor activity			endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						CGCAGGCTCCGGAAGAGTGGA	0.562													A	49494380	G	A	49494380	3	1	736	1	0	0	0	0	1	0	0	0	8902	1115	39	1	353	1	LMBR1L	12	49494380	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	27054256	49494380	84357515	18	55862											
OCA2	4948	broad.mit.edu	37	chr15	28326921	28326921	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggaagcctgcgcttgcCggccacaagttcagcgagtc	8	6	13	14	4	1	0	1	0	0	0	2	3	1	1	4	2	4	2	4	2	2	2			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr15:28326921C>T	ENST00000354638.3	-	2	255	c.100G>A	c.(100-102)Ggc>Agc	p.G34S	OCA2_ENST00000382996.2_Missense_Mutation_p.G34S|OCA2_ENST00000353809.5_Missense_Mutation_p.G34S	NM_000275.2	NP_000266.2	Q04671	P_HUMAN	oculocutaneous albinism II	34					eye pigment biosynthetic process	endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosomal membrane|melanosome membrane	arsenite transmembrane transporter activity|citrate transmembrane transporter activity|L-tyrosine transmembrane transporter activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(11)|lung(48)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		all_lung(180;2.93e-12)|Breast(32;0.000315)|Colorectal(260;0.234)		all cancers(64;5.03e-07)|Epithelial(43;2.13e-06)|BRCA - Breast invasive adenocarcinoma(123;0.045)		CTGCGCTTGCCGGCCACAAGT	0.721									Oculocutaneous Albinism				T	28326921	C	T	28326921	3	4	736	1	0	0	0	0	1	0	0	0	10891	652	23	1	2508	1	OCA2	15	28326921	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08		28326921	74204471	19	55863											
USP6	9098	broad.mit.edu	37	chr17	5048779	5048779	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctaagatctcaagtcaaatGcaagacatgtgggcatataa	16	9	9	7	0	2	2	2	0	1	2	3	2	2	2	0	1	1	3	0	1	6	3			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:5048779G>A	ENST00000574788.1	+	27	4302	c.2072G>A	c.(2071-2073)tGc>tAc	p.C691Y	USP6_ENST00000332776.4_Missense_Mutation_p.C691Y|USP6_ENST00000304328.5_Missense_Mutation_p.C374Y|USP6_ENST00000250066.6_Missense_Mutation_p.C691Y			P35125	UBP6_HUMAN	ubiquitin specific peptidase 6 (Tre-2 oncogene)	691					protein deubiquitination|regulation of vesicle-mediated transport|ubiquitin-dependent protein catabolic process	lysosome|plasma membrane|recycling endosome	calmodulin binding|cysteine-type endopeptidase activity|nucleic acid binding|protein binding|Rab GTPase activator activity|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	34						CAAGTCAAATGCAAGACATGT	0.388			T	"COL1A1, CDH11, ZNF9, OMD"	aneurysmal bone cysts								A	5048779	G	A	5048779	3	1	736	1	0	0	0	0	1	0	0	0	17188	1319	46	2	2142	2	USP6	17	5048779	Missense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		5048779	76146431	20	55864											
TP53	7157	broad.mit.edu	37	chr17	7577105	7577105	+	Frame_Shift_Del	DEL	G	G	-																															ctgtgcgccggtctctcccaGgacaggcacaaacacgcacc																										TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577105delG	ENST00000420246.2	-	8	965	c.833delC	c.(832-834)cctfs	p.P278fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P278fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.P278fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P278fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	278	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation; dbSNP:rs17849781).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation).|P -> T (in LFS; 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.P278L(61)|p.P278R(30)|p.P278H(13)|p.0?(8)|p.P278F(3)|p.?(2)|p.P278fs*67(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GTCTCTCCCAGGACAGGCACA	0.552		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)			-	7577105	G	-	7577105	7	5	736	1	0	1	0	1	0	0	0	0	16482	1000	35	0	453	0	TP53	17	7577105	Frame_Shift_Del	DEL	G	TCGA-S9-A7R7-01A-11D-A34J-08	2528326	7577105	73618105	21	55865											
TP53	7157	broad.mit.edu	37	chr17	7577538	7577538	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatggtgaggatgggcctcCggttcatgccgcccatgcag	6	9	15	11	2	1	2	1	2	0	0	2	3	2	3	4	4	2	2	4	4	0	1	rs11540652		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:7577538C>T	ENST00000420246.2	-	7	875	c.743G>A	c.(742-744)cGg>cAg	p.R248Q	TP53_ENST00000455263.2_Missense_Mutation_p.R248Q|TP53_ENST00000413465.2_Missense_Mutation_p.R248Q|TP53_ENST00000269305.4_Missense_Mutation_p.R248Q|TP53_ENST00000445888.2_Missense_Mutation_p.R248Q|TP53_ENST00000359597.4_Missense_Mutation_p.R248Q	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248Q(580)|p.R248L(75)|p.R248P(19)|p.R155Q(18)|p.0?(8)|p.?(5)|p.R155L(3)|p.R155P(2)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.M246_P250delMNRRP(2)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.R248fs*>39(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		GATGGGCCTCCGGTTCATGCC	0.572	R248Q(BL41_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CA46_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(CI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(EM2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(HCC1143_BREAST)|R248Q(HCC70_BREAST)|R248Q(HEC1A_ENDOMETRIUM)|R248Q(HS683_CENTRAL_NERVOUS_SYSTEM)|R248Q(HSC4_UPPER_AERODIGESTIVE_TRACT)|R248Q(KASUMI1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KOPN8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(KYSE150_OESOPHAGUS)|R248Q(MOLM6_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NAMALWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NB4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(NCIH211_LUNG)|R248Q(NCIN87_STOMACH)|R248Q(NIHOVCAR3_OVARY)|R248Q(NUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(P12ICHIKAWA_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(PANC0203_PANCREAS)|R248Q(PC14_LUNG)|R248Q(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(RT112_URINARY_TRACT)|R248Q(SEM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SF295_CENTRAL_NERVOUS_SYSTEM)|R248Q(SKUT1_SOFT_TISSUE)|R248Q(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248Q(SW1463_LARGE_INTESTINE)|R248Q(WSUDLCL2_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	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)			T	7577538	C	T	7577538	3	4	736	1	0	0	0	0	1	0	0	0	16482	652	23	1	547	1	TP53	17	7577538	Missense_Mutation	SNP	C	TCGA-S9-A7R7-01A-11D-A34J-08	433	7577538	73617672	22	55866											
CDC27	996	broad.mit.edu	37	chr17	45216210	45216210	+	Silent	SNP	A	A	C																															gagtagatctccatgccttcAactctataattctcaatcct																								rs62075659		TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216210A>C	ENST00000066544.3	-	13	1692	c.1599T>G	c.(1597-1599)gtT>gtG	p.V533V	CDC27_ENST00000446365.2_Silent_p.V472V|CDC27_ENST00000527547.1_Silent_p.V532V|CDC27_ENST00000531206.1_Silent_p.V539V	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	533					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding	p.V533V(1)|p.V539V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						CCATGCCTTCAACTCTATAAT	0.318													C	45216210	A	C	45216210	2	2	736	1	0	0	0	0	0	0	0	1	3096	117	5	5		5	CDC27	17	45216210	Silent	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	37638672	45216210	35979000	23	55867	176	2									
CDC27	996	broad.mit.edu	37	chr17	45216218	45216218	+	Missense_Mutation	SNP	A	A	G																															ctccatgccttcaactctatAattctcaatccttctaacct																										TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:45216218A>G	ENST00000066544.3	-	13	1684	c.1591T>C	c.(1591-1593)Tat>Cat	p.Y531H	CDC27_ENST00000446365.2_Missense_Mutation_p.Y470H|CDC27_ENST00000527547.1_Missense_Mutation_p.Y530H|CDC27_ENST00000531206.1_Missense_Mutation_p.Y537H	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	531					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						TCAACTCTATAATTCTCAATC	0.328													G	45216218	A	G	45216218	3	3	736	1	0	0	0	0	1	0	0	0	3096	362	13	3	911	3	CDC27	17	45216218	Missense_Mutation	SNP	A	TCGA-S9-A7R7-01A-11D-A34J-08	8	45216218	35978992	24	55868	176	2									
ABCA8	10351	broad.mit.edu	37	chr17	66933164	66933164	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttcaaatgatatgagtatgTattagtaaaggtgactctta	14	15	8	4	0	2	3	1	3	1	0	2	3	2	3	0	1	0	3	0	1	8	7			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr17:66933164T>C	ENST00000269080.2	-	4	531	c.394A>G	c.(394-396)Aca>Gca	p.T132A	ABCA8_ENST00000430352.2_Missense_Mutation_p.T132A|ABCA8_ENST00000586539.1_Missense_Mutation_p.T132A	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	132						integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					TATGAGTATGTATTAGTAAAG	0.363													C	66933164	T	C	66933164	3	2	736	1	0	0	0	0	1	0	0	0	38	1638	57	3	4491	3	ABCA8	17	66933164	Missense_Mutation	SNP	T	TCGA-S9-A7R7-01A-11D-A34J-08	21716946	66933164	14262046	25	55869											
CEACAM7	1087	broad.mit.edu	37	chr19	42187807	42187807	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctatgtcattctttgtggcGctgagtagaacgagggtcct	7	13	12	9	2	2	2	1	1	1	1	3	3	3	2	2	2	1	2	2	2	3	4			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr19:42187807G>A	ENST00000006724.3	-	3	816	c.615C>T	c.(613-615)agC>agT	p.S205S	CEACAM7_ENST00000401731.1_Silent_p.S205S|CEACAM7_ENST00000338196.4_Intron|CEACAM7_ENST00000602225.1_Intron	NM_006890.3	NP_008821.1	Q14002	CEAM7_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 7	205	Ig-like C2-type.					anchored to membrane|integral to membrane|plasma membrane				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18				OV - Ovarian serous cystadenocarcinoma(3;0.0027)|all cancers(3;0.00979)|Epithelial(262;0.0366)		TCTTTGTGGCGCTGAGTAGAA	0.537													A	42187807	G	A	42187807	2	1	736	1	0	0	0	0	0	0	0	1	3227	1078	38	1		1	CEACAM7	19	42187807	Silent	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08		42187807	16941176	26	55870											
MYT1	4661	broad.mit.edu	37	chr20	62830225	62830225	+	Frame_Shift_Del	DEL	A	A	-																															ttgcttgcagatgagcttagAaaatgaagacaagcgagctc																										TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chr20:62830225delA	ENST00000536311.1	+	3	375	c.11delA	c.(10-12)gaafs	p.E4fs	MYT1_ENST00000328439.1_Frame_Shift_Del_p.E4fs|MYT1_ENST00000360149.4_Frame_Shift_Del_p.E4fs			Q01538	MYT1_HUMAN	myelin transcription factor 1	4					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ATGAGCTTAGAAAATGAAGAC	0.552													-	62830225	A	-	62830225	7	5	736	1	0	1	0	1	0	0	0	0	10182	246	9	0	13	0	MYT1	20	62830225	Frame_Shift_Del	DEL	A	TCGA-S9-A7R7-01A-11D-A34J-08		62830225	195295	27	55871											
BCOR	54880	broad.mit.edu	37	chrX	39932980	39932981	+	Frame_Shift_Ins	INS	-	-	G																															gcgcgggcatgatgaactccINSgctgctgtggtatcgcccag																										TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:39932980_39932981insG	ENST00000342274.4	-	4	1980_1981	c.1618_1619insC	c.(1618-1620)cggfs	p.R540fs	BCOR_ENST00000397354.3_Frame_Shift_Ins_p.R540fs|BCOR_ENST00000378444.4_Frame_Shift_Ins_p.R540fs|BCOR_ENST00000378455.4_Frame_Shift_Ins_p.R540fs	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	540					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGATGAACTCCGCTGCTGTGGT	0.594			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						G	39932981	-	G	39932980	7	5	736	1	0	1	1	0	0	0	0	0	1391	652	23	0	3696	0	BCOR	23	39932980	Frame_Shift_Ins	INS	-	TCGA-S9-A7R7-01A-11D-A34J-08		39932980	115337580	28	55872											
ATRX	546	broad.mit.edu	37	chrX	76940000	76940000	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattgtggacaactcctttcGaccaaggttgcgtagaatgc	10	12	10	9	2	0	1	0	0	0	1	2	3	1	2	2	2	3	2	2	2	5	5			TCGA-S9-A7R7-01A-11D-A34J-08	TCGA-S9-A7R7-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	996e2b01-43d2-4325-a00a-0f3d0400011b	b62e6aa3-04c8-46eb-a09b-6a9246c50180	g.chrX:76940000G>A	ENST00000373344.5	-	9	962	c.748C>T	c.(748-750)Cga>Tga	p.R250*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.R212*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	250	ADD.				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)	AACTCCTTTCGACCAAGGTTG	0.418			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76940000	G	A	76940000	4	1	736	1	0	0	0	0	0	1	0	0	1213	1066	37	1	6838	1	ATRX	23	76940000	Nonsense_Mutation	SNP	G	TCGA-S9-A7R7-01A-11D-A34J-08	37007020	76940000	78330560	29	55873											
OR6Y1	391112	broad.mit.edu	37	chr1	158517240	158517240	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcagcgtaggatgccaccAcaacacaaagaggaatagca	17	4	10	10	1	0	1	0	0	0	1	0	3	0	3	2	2	5	3	2	2	6	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:158517240A>G	ENST00000302617.3	-	1	655	c.656T>C	c.(655-657)gTg>gCg	p.V219A		NM_001005189.1	NP_001005189.1	Q8NGX8	OR6Y1_HUMAN	olfactory receptor, family 6, subfamily Y, member 1	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	30	all_hematologic(112;0.0378)					GGATGCCACCACAACACAAAG	0.552													G	158517240	A	G	158517240	3	3	737	1	0	0	0	0	1	0	0	0	11289	159	6	3	323	3	OR6Y1	1	158517240	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08		158517240	90733381	1	55874											
SLAMF9	89886	broad.mit.edu	37	chr1	159922090	159922090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagggatggggcaagaactgAcgttgctgatggggttgttg	8	10	18	5	1	0	3	0	2	0	1	0	4	0	4	0	5	2	5	0	5	2	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:159922090A>G	ENST00000368093.3	-	3	742	c.626T>C	c.(625-627)gTc>gCc	p.V209A	SLAMF9_ENST00000368092.3_Intron|SLAMF9_ENST00000466773.1_5'UTR	NM_033438.3	NP_254273.2	Q96A28	SLAF9_HUMAN	SLAM family member 9	209	Ig-like C2-type.					integral to membrane				breast(1)|endometrium(2)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	13	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GCAAGAACTGACGTTGCTGAT	0.567													G	159922090	A	G	159922090	3	3	737	1	0	0	0	0	1	0	0	0	14465	275	10	3	251	3	SLAMF9	1	159922090	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	1404850	159922090	89328531	2	55875											
GPR52	9293	broad.mit.edu	37	chr1	174417494	174417494	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccagctatttcattcagaCgatggcatatgctgatcttt	10	15	7	9	1	3	2	2	1	1	1	3	3	3	2	1	1	3	3	1	1	3	6			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:174417494C>T	ENST00000367685.2	+	1	283	c.245C>T	c.(244-246)aCg>aTg	p.T82M	RABGAP1L_ENST00000357444.6_Intron|RABGAP1L_ENST00000367689.3_Intron|RABGAP1L_ENST00000251507.4_Intron	NM_005684.4	NP_005675.3	Q9Y2T5	GPR52_HUMAN	G protein-coupled receptor 52	82						integral to plasma membrane	G-protein coupled receptor activity			breast(3)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|prostate(1)|skin(2)	20						TTCATTCAGACGATGGCATAT	0.428													T	174417494	C	T	174417494	3	4	737	1	0	0	0	0	1	0	0	0	6752	536	19	1	247	1	GPR52	1	174417494	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	14495404	174417494	74833127	3	55876											
RASAL2	9462	broad.mit.edu	37	chr1	178427190	178427190	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtggccttcagcccttgtcGttccagaaccctgtctatca	6	12	9	14	1	3	1	2	0	1	1	5	1	4	1	4	2	2	1	4	2	2	4			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr1:178427190G>A	ENST00000448150.3	+	14	3548	c.2730G>A	c.(2728-2730)tcG>tcA	p.S910S	RASAL2_ENST00000462775.1_Silent_p.S780S|RASAL2_ENST00000367649.3_Silent_p.S921S	NM_170692.2	NP_733793.2	Q9UJF2	NGAP_HUMAN	RAS protein activator like 2	780					negative regulation of Ras protein signal transduction|signal transduction	cytoplasm|intrinsic to internal side of plasma membrane	Ras GTPase activator activity			biliary_tract(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(2)|lung(25)|ovary(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						AGCCCTTGTCGTTCCAGAACC	0.542													A	178427190	G	A	178427190	2	1	737	1	0	0	0	0	0	0	0	1	13152	1132	40	1		1	RASAL2	1	178427190	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	4009696	178427190	70823431	4	55877											
ADCY3	109	broad.mit.edu	37	chr2	25141329	25141329	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agcgtgatgaagaaggagaaGacaaagaagacctgccagcc	17	3	13	8	1	0	7	0	2	0	5	0	8	0	7	3	1	3	0	3	1	5	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:25141329G>A	ENST00000260600.5	-	1	1379	c.528C>T	c.(526-528)gtC>gtT	p.V176V		NM_004036.3	NP_004027.2	O60266	ADCY3_HUMAN	adenylate cyclase 3	176					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|sensory perception of smell|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to plasma membrane	ATP binding|calmodulin binding|metal ion binding			NS(1)|breast(5)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(4)|skin(2)	44	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.203)					AGAAGGAGAAGACAAAGAAGA	0.612													A	25141329	G	A	25141329	2	1	737	1	0	0	0	0	0	0	0	1	295	929	33	2		2	ADCY3	2	25141329	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		25141329	218058044	5	55878											
GALNT5	11227	broad.mit.edu	37	chr2	158115046	158115046	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agacgggagaggcaccaaacCtgaagcctcctctcaccagg	12	4	11	14	1	1	3	1	1	1	2	3	4	2	3	5	3	2	1	5	3	2	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:158115046C>A	ENST00000259056.4	+	1	937	c.452C>A	c.(451-453)cCt>cAt	p.P151H		NM_014568.1	NP_055383.1	Q7Z7M9	GALT5_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 5 (GalNAc-T5)	151					glycosaminoglycan biosynthetic process	Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(4)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	56						GGCACCAAACCTGAAGCCTCC	0.542													A	158115046	C	A	158115046	3	1	737	1	0	0	0	0	1	0	0	0	6270	681	24	4	454	4	GALNT5	2	158115046	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	132973717	158115046	85084327	6	55879											
MARCH7	64844	broad.mit.edu	37	chr2	160605198	160605198	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aggtggctctacatcagattCggctcaaggtggaagaaata	13	9	12	7	1	3	2	2	0	1	2	4	3	3	3	0	5	1	2	0	5	5	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:160605198C>T	ENST00000259050.4	+	5	1519	c.1397C>T	c.(1396-1398)tCg>tTg	p.S466L	MARCH7_ENST00000409591.1_Missense_Mutation_p.S428L|MARCH7_ENST00000539065.1_Missense_Mutation_p.S410L|MARCH7_ENST00000409175.1_Missense_Mutation_p.S466L	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase								ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						ACATCAGATTCGGCTCAAGGT	0.493													T	160605198	C	T	160605198	3	4	737	1	0	0	0	0	1	0	0	0	9381	893	31	1	1411	1	MARCH7	2	160605198	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	2490152	160605198	82594175	7	55880											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	737	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	48507914	209113112	34086261	8	55881											
CAPN10	11132	broad.mit.edu	37	chr2	241531435	241531435	+	Frame_Shift_Del	DEL	A	A	-																															gcggcctggcagaaagatggAacctgaagggcgtagcagga																										TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr2:241531435delA	ENST00000391984.2	+	4	752	c.556delA	c.(556-558)aacfs	p.N186fs	CAPN10_ENST00000270364.7_Intron|CAPN10_ENST00000354082.4_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000391982.2_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000404753.3_Frame_Shift_Del_p.N186fs|CAPN10_ENST00000352879.4_Intron	NM_023083.3	NP_075571	Q9HC96	CAN10_HUMAN	calpain 10	186	Calpain catalytic.				actin cytoskeleton reorganization|cellular response to insulin stimulus|positive regulation of apoptosis|positive regulation of glucose import|positive regulation of insulin secretion|positive regulation of intracellular transport|proteolysis	cytosol|plasma membrane	calcium-dependent cysteine-type endopeptidase activity|cytoskeletal protein binding|SNARE binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|urinary_tract(1)	27		all_epithelial(40;1.72e-15)|Breast(86;2.14e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0294)|all_neural(83;0.0459)|Lung NSC(271;0.094)|all_hematologic(139;0.158)|Melanoma(123;0.16)|Hepatocellular(293;0.244)		Epithelial(32;1.13e-31)|all cancers(36;3.24e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.82e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;5.1e-06)|Lung(119;0.00168)|Colorectal(34;0.00495)|LUSC - Lung squamous cell carcinoma(224;0.00813)|COAD - Colon adenocarcinoma(134;0.032)		AGAAAGATGGAACCTGAAGGG	0.657													-	241531435	A	-	241531435	7	5	737	1	0	1	0	1	0	0	0	0	2649	246	9	0	570	0	CAPN10	2	241531435	Frame_Shift_Del	DEL	A	TCGA-S9-A7R8-01A-11D-A34J-08	32418323	241531435	1667938	9	55882											
SLC25A38	54977	broad.mit.edu	37	chr3	39433035	39433035	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaccgccctggagtcagTcatgctgggggtgggctctc	5	8	14	14	1	3	0	2	0	1	0	4	1	3	1	3	4	2	2	3	4	1	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:39433035T>A	ENST00000273158.4	+	4	757	c.380T>A	c.(379-381)gTc>gAc	p.V127D		NM_017875.2	NP_060345.2	Q96DW6	S2538_HUMAN	solute carrier family 25, member 38	127					erythrocyte differentiation|heme biosynthetic process|transport	integral to membrane|mitochondrial inner membrane				breast(1)|endometrium(1)|large_intestine(1)|lung(6)|skin(1)|stomach(1)	11				KIRC - Kidney renal clear cell carcinoma(284;0.0525)|Kidney(284;0.0661)		CTGGAGTCAGTCATGCTGGGG	0.527													A	39433035	T	A	39433035	3	1	737	1	0	0	0	0	1	0	0	0	14596	1667	58	5	394	5	SLC25A38	3	39433035	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		39433035	158589395	10	55883											
TKT	7086	broad.mit.edu	37	chr3	53264614	53264614	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cccagcttggccagtgcctgCccgtaggccttgcgggtggc	3	8	15	15	2	0	0	0	0	0	0	0	0	0	0	5	4	4	2	5	4	1	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr3:53264614C>T	ENST00000462138.1	-	8	1054	c.966G>A	c.(964-966)ggG>ggA	p.G322G	TKT_ENST00000461139.1_5'UTR|TKT_ENST00000423525.2_Silent_p.G322G|TKT_ENST00000423516.1_Silent_p.G330G|TKT_ENST00000296289.6_Silent_p.G275G			P29401	TKT_HUMAN	transketolase	322					energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|transketolase activity			endometrium(5)|large_intestine(4)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	17		Prostate(884;0.0959)		BRCA - Breast invasive adenocarcinoma(193;0.000159)|OV - Ovarian serous cystadenocarcinoma(275;0.000314)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)	Thiamine(DB00152)	CCAGTGCCTGCCCGTAGGCCT	0.597													T	53264614	C	T	53264614	2	4	737	1	0	0	0	0	0	0	0	1	16034	726	26	2		2	TKT	3	53264614	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	13831579	53264614	144757816	11	55884											
FAM193A	8603	broad.mit.edu	37	chr4	2701539	2701539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtttcaaggaggaatttcagCggcttcaggagcttcagaag	11	10	13	7	1	4	1	4	0	0	1	4	4	4	4	0	4	2	3	0	4	3	4			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr4:2701539C>T	ENST00000324666.5	+	17	3118	c.2767C>T	c.(2767-2769)Cgg>Tgg	p.R923W	FAM193A_ENST00000505311.1_Missense_Mutation_p.R923W|FAM193A_ENST00000545951.1_Missense_Mutation_p.R923W|FAM193A_ENST00000382839.3_Missense_Mutation_p.R923W|FAM193A_ENST00000502458.1_Missense_Mutation_p.R945W	NM_001256666.1	NP_001243595.1	P78312	F193A_HUMAN	family with sequence similarity 193, member A	923										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						GGAATTTCAGCGGCTTCAGGA	0.537													T	2701539	C	T	2701539	3	4	737	1	0	0	0	0	1	0	0	0	5571	759	27	1	2825	1	FAM193A	4	2701539	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		2701539	188452737	12	55885											
KCNN2	3781	broad.mit.edu	37	chr5	113698614	113698614	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaggtggcggcgcgtccTccccgtctgcagccgctgcc	3	6	16	16	5	1	0	0	0	1	0	3	2	3	1	5	4	3	2	5	4	0	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr5:113698614T>C	ENST00000512097.3	+	2	1160	c.142T>C	c.(142-144)Tcc>Ccc	p.S48P	KCNN2_ENST00000264773.3_Missense_Mutation_p.S48P			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	48						integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)		CGGCGCGTCCTCCCCGTCTGC	0.692													C	113698614	T	C	113698614	3	2	737	1	0	0	0	0	1	0	0	0	8137	1551	54	3	144	3	KCNN2	5	113698614	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		113698614	67216646	13	55886											
RUNX2	860	broad.mit.edu	37	chr6	45390482	45390482	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcaacagcagcagcagcagCaggaggcggcggcggcggct	10	1	18	12	4	0	0	0	0	0	0	0	1	0	1	0	6	7	7	0	6	1	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:45390482C>G	ENST00000371438.1	+	2	569	c.211C>G	c.(211-213)Cag>Gag	p.Q71E	RUNX2_ENST00000371436.6_Missense_Mutation_p.Q71E|RUNX2_ENST00000359524.5_Missense_Mutation_p.Q57E|RUNX2_ENST00000541979.1_Missense_Mutation_p.Q139E|RUNX2_ENST00000371432.3_Missense_Mutation_p.Q57E|RUNX2_ENST00000352853.5_Missense_Mutation_p.Q139E|RUNX2_ENST00000576263.1_Missense_Mutation_p.Q71E|RUNX2_ENST00000465038.2_Missense_Mutation_p.Q71E	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	71	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						gcagcagcagcaggaggcggc	0.716													G	45390482	C	G	45390482	3	3	737	1	0	0	0	0	1	0	0	0	13839	711	25	4	233	4	RUNX2	6	45390482	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		45390482	125724585	14	55887											
BCLAF1	9774	broad.mit.edu	37	chr6	136596694	136596694	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacatgatgaaccaaggacaCaatgtgttgaataaatgact	18	9	8	6	0	0	4	0	4	0	0	0	5	0	5	1	1	2	1	1	1	7	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr6:136596694C>A	ENST00000531224.1	-	6	2080	c.1828G>T	c.(1828-1830)Gtg>Ttg	p.V610L	BCLAF1_ENST00000392348.2_Missense_Mutation_p.V608L|BCLAF1_ENST00000353331.4_Missense_Mutation_p.V608L|BCLAF1_ENST00000530767.1_Missense_Mutation_p.V437L|BCLAF1_ENST00000527536.1_Missense_Mutation_p.V610L|BCLAF1_ENST00000527759.1_Missense_Mutation_p.V608L	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	610					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding			haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		ACCAAGGACACAATGTGTTGA	0.353													A	136596694	C	A	136596694	3	1	737	1	0	0	0	0	1	0	0	0	1388	478	17	4	966	4	BCLAF1	6	136596694	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	91206212	136596694	34518373	15	55888											
TPST1	8460	broad.mit.edu	37	chr7	65705883	65705883	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagccagccccttatttatgTaataaagatccttttgccct	10	14	6	11	0	0	1	0	0	0	1	1	2	1	1	5	0	3	1	5	0	5	7			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:65705883T>A	ENST00000304842.5	+	2	896	c.471T>A	c.(469-471)tgT>tgA	p.C157*	TPST1_ENST00000480281.1_Intron	NM_003596.3	NP_003587.1	O60507	TPST1_HUMAN	tyrosylprotein sulfotransferase 1	157					inflammatory response|peptidyl-tyrosine sulfation	Golgi membrane|integral to membrane|membrane fraction	protein-tyrosine sulfotransferase activity			NS(1)|biliary_tract(1)|breast(1)|kidney(3)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	11						CTTATTTATGTAATAAAGATC	0.443													A	65705883	T	A	65705883	4	1	737	1	0	0	0	0	0	1	0	0	16528	1644	57	5	473	5	TPST1	7	65705883	Nonsense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08		65705883	93432780	16	55889											
SEMA3A	10371	broad.mit.edu	37	chr7	83823801	83823801	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taagatttacctttgtaggaTaatttcagccttggcacatt	11	16	7	7	0	1	1	1	0	0	1	1	2	1	2	2	2	2	2	2	2	4	9			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:83823801T>G	ENST00000265362.4	-	1	416	c.102A>C	c.(100-102)ttA>ttC	p.L34F	SEMA3A_ENST00000436949.1_Missense_Mutation_p.L34F	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A		Sema.				axon guidance	extracellular region|membrane	receptor activity			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						CTTTGTAGGATAATTTCAGCC	0.408													G	83823801	T	G	83823801	3	3	737	1	0	0	0	0	1	0	0	0	14117	1403	49	5	2281	5	SEMA3A	7	83823801	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	18117918	83823801	75314862	17	55890											
FZD1	8321	broad.mit.edu	37	chr7	90895601	90895601	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggcgctgggccaggtggAcggcgatgtgctgagcggag	5	6	20	10	4	0	1	0	1	0	0	0	4	0	3	2	6	2	2	2	6	0	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:90895601A>G	ENST00000287934.2	+	1	1819	c.1406A>G	c.(1405-1407)gAc>gGc	p.D469G		NM_003505.1	NP_003496.1	Q9UP38	FZD1_HUMAN	frizzled family receptor 1	469					autocrine signaling|axonogenesis|brain development|canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|embryo development|epithelial cell differentiation|G-protein signaling, coupled to cGMP nucleotide second messenger|gonad development|lung alveolus development|negative regulation of BMP signaling pathway|negative regulation of canonical Wnt receptor signaling pathway|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|response to drug|vasculature development|Wnt receptor signaling pathway, calcium modulating pathway	apical part of cell|cell surface|cytoplasm|integral to membrane|neuron projection membrane	G-protein coupled receptor activity|PDZ domain binding|receptor binding|Wnt receptor activity|Wnt-protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24	all_cancers(62;3.1e-10)|all_epithelial(64;1.66e-08)|Breast(17;0.000635)|Lung NSC(181;0.153)|all_lung(186;0.154)|all_hematologic(106;0.215)		STAD - Stomach adenocarcinoma(171;0.0134)			GGCCAGGTGGACGGCGATGTG	0.632													G	90895601	A	G	90895601	3	3	737	1	0	0	0	0	1	0	0	0	6180	275	10	3	1408	3	FZD1	7	90895601	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	7071800	90895601	68243062	18	55891											
MUC17	140453	broad.mit.edu	37	chr7	100677440	100677440	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttctgaaggtaccagcatgCcaacctcaactcctggggaa	11	8	9	13	0	2	1	1	1	1	0	3	2	3	2	4	3	5	2	4	3	5	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr7:100677440C>T	ENST00000306151.4	+	3	2807	c.2743C>T	c.(2743-2745)Cca>Tca	p.P915S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	915	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)					TACCAGCATGCCAACCTCAAC	0.507													T	100677440	C	T	100677440	3	4	737	1	0	0	0	0	1	0	0	0	10050	739	26	2	2753	2	MUC17	7	100677440	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	9781839	100677440	58461223	19	55892											
KIF13B	23303	broad.mit.edu	37	chr8	29043864	29043864	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaatttccatgtaggacaCttctactttaaaactctgtt	13	16	4	8	0	2	0	0	0	2	0	3	1	3	1	1	1	2	2	1	1	6	8			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:29043864C>T	ENST00000524189.1	-	6	480	c.442G>A	c.(442-444)Gtg>Atg	p.V148M	KIF13B_ENST00000521515.1_Missense_Mutation_p.V148M	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	148	Kinesin-motor.				microtubule-based movement|protein targeting|signal transduction|T cell activation	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein kinase binding			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		ATGTAGGACACTTCTACTTTA	0.393													T	29043864	C	T	29043864	3	4	737	1	0	0	0	0	1	0	0	0	8333	565	20	2	5178	2	KIF13B	8	29043864	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		29043864	117320158	20	55893											
MAPK15	225689	broad.mit.edu	37	chr8	144802971	144802971	+	Nonsense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcgccccggacaagcggtTaagcgcgacccaggcactgc	8	5	13	15	5	0	0	0	0	0	0	1	2	0	1	3	3	3	3	3	3	2	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr8:144802971T>G	ENST00000338033.4	+	9	997	c.878T>G	c.(877-879)tTa>tGa	p.L293*		NM_139021.2	NP_620590.2	Q8TD08	MK15_HUMAN	mitogen-activated protein kinase 15	293	Protein kinase.				protein autophosphorylation	extracellular region	ATP binding|MAP kinase activity|SH3 domain binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)|stomach(1)	12	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;6.8e-40)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			GACAAGCGGTTAAGCGCGACC	0.672													G	144802971	T	G	144802971	4	3	737	1	0	0	0	0	0	1	0	0	9352	1764	61	5	912	5	MAPK15	8	144802971	Nonsense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	115759107	144802971	1561051	21	55894											
TJP2	9414	broad.mit.edu	37	chr9	71861646	71861646	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccaatgatagctggtttggCagcttaaaggacactattca	12	11	10	8	0	1	1	1	1	0	0	1	2	1	2	1	3	2	4	1	3	5	5			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:71861646C>T	ENST00000377245.4	+	18	2815	c.2607C>T	c.(2605-2607)ggC>ggT	p.G869G	TJP2_ENST00000265384.7_Silent_p.G869G|TJP2_ENST00000498204.1_3'UTR|TJP2_ENST00000348208.4_Silent_p.G869G|TJP2_ENST00000535702.1_Silent_p.G873G|TJP2_ENST00000539225.1_Silent_p.G900G|TJP2_ENST00000453658.2_Silent_p.G846G	NM_004817.3	NP_004808.2	Q9UDY2	ZO2_HUMAN	tight junction protein 2	869	Guanylate kinase-like.				cellular component disassembly involved in apoptosis	adherens junction|cytoplasm|nucleus|tight junction	guanylate kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(5)|lung(9)|prostate(3)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	35						GCTGGTTTGGCAGCTTAAAGG	0.408													T	71861646	C	T	71861646	2	4	737	1	0	0	0	0	0	0	0	1	16030	697	25	2		2	TJP2	9	71861646	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		71861646	69351785	22	55895											
RASEF	158158	broad.mit.edu	37	chr9	85605368	85605368	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttggcacttgtttcacagaaTaatgccccatacgtctgtaa	11	13	7	10	1	2	1	1	0	1	1	2	1	2	1	2	1	2	3	2	1	4	6			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr9:85605368T>G	ENST00000376447.3	-	16	2315	c.2055A>C	c.(2053-2055)ttA>ttC	p.L685F		NM_152573.2	NP_689786.2	Q8IZ41	RASEF_HUMAN	RAS and EF-hand domain containing	685					protein transport|small GTPase mediated signal transduction	perinuclear region of cytoplasm	calcium ion binding|GTP binding			NS(1)|breast(1)|endometrium(2)|kidney(4)|large_intestine(4)|liver(1)|lung(15)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTCACAGAATAATGCCCCAT	0.348													G	85605368	T	G	85605368	3	3	737	1	0	0	0	0	1	0	0	0	13156	1403	49	5	175	5	RASEF	9	85605368	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	13743722	85605368	55608063	23	55896											
CEP55	55165	broad.mit.edu	37	chr10	95276727	95276727	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagcagaaatgttacaacGatctcttggcaagtgcaaaa	17	8	9	7	1	1	2	0	0	1	2	2	3	1	2	0	1	4	4	0	1	7	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:95276727G>A	ENST00000371485.3	+	6	1019	c.715G>A	c.(715-717)Gat>Aat	p.D239N		NM_001127182.1|NM_018131.4	NP_001120654|NP_060601	Q53EZ4	CEP55_HUMAN	centrosomal protein 55kDa	239					cell division|mitosis	centriole|cleavage furrow|midbody				kidney(1)|large_intestine(5)|lung(6)|stomach(1)	13		Colorectal(252;0.207)				ATGTTACAACGATCTCTTGGC	0.333													A	95276727	G	A	95276727	3	1	737	1	0	0	0	0	1	0	0	0	3285	1058	37	1	733	1	CEP55	10	95276727	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		95276727	40258020	24	55897											
FAM24A	118670	broad.mit.edu	37	chr10	124671156	124671156	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttctccttaggcatggcAaagatgtttgatctcaggac	10	13	9	9	0	2	2	1	1	2	1	4	3	2	3	1	3	0	3	1	3	2	3			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr10:124671156A>G	ENST00000368894.1	+	2	127	c.6A>G	c.(4-6)gcA>gcG	p.A2A		NM_001029888.1	NP_001025059.1	A6NFZ4	FA24A_HUMAN	family with sequence similarity 24, member A	2						extracellular region				large_intestine(2)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	9		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.124)|COAD - Colon adenocarcinoma(40;0.141)		TAGGCATGGCAAAGATGTTTG	0.502													G	124671156	A	G	124671156	2	3	737	1	0	0	0	0	0	0	0	1	5595	117	5	3		3	FAM24A	10	124671156	Silent	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	29394429	124671156	10863591	25	55898											
CNGA4	1262	broad.mit.edu	37	chr11	6261635	6261635	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgtgacgcatgggtgtaccCggaccccgcgcagcctggct	5	6	15	15	5	0	1	0	1	0	0	0	2	0	2	4	3	2	4	4	3	1	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr11:6261635C>T	ENST00000379936.2	+	4	726	c.611C>T	c.(610-612)cCg>cTg	p.P204L	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	204					response to stimulus|sensory perception of smell		cAMP binding			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGGTGTACCCGGACCCCGCG	0.567													T	6261635	C	T	6261635	3	4	737	1	0	0	0	0	1	0	0	0	3630	652	23	1	625	1	CNGA4	11	6261635	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		6261635	128744881	26	55899											
KRT73	319101	broad.mit.edu	37	chr12	53008439	53008439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagctccactttgctcGtgtaagctgcgtccacgtcc	5	11	9	16	3	0	0	0	0	0	0	4	0	3	0	4	0	5	5	4	0	1	2	rs142246988	byFrequency	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:53008439G>A	ENST00000305748.3	-	4	777	c.743C>T	c.(742-744)aCg>aTg	p.T248M	RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	248	Coil 1B.|Rod.		T -> M (in a colorectal cancer sample; somatic mutation).			keratin filament	structural molecule activity	p.T248M(1)		NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		CACTTTGCTCGTGTAAGCTGC	0.577													A	53008439	G	A	53008439	3	1	737	1	0	0	0	0	1	0	0	0	8544	1145	40	1	903	1	KRT73	12	53008439	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		53008439	80843456	27	55900											
MMAB	326625	broad.mit.edu	37	chr12	109998861	109998861	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttaccgtctctcggcccggcGgcacacggcccggcagaaat	7	6	12	16	6	1	1	0	0	1	1	3	1	1	1	3	5	1	2	3	5	2	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr12:109998861G>A	ENST00000545712.2	-	7	961	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	MMAB_ENST00000266839.5_Missense_Mutation_p.R99C|MMAB_ENST00000540016.1_Missense_Mutation_p.R138C	NM_052845.3	NP_443077.1	Q96EY8	MMAB_HUMAN	methylmalonic aciduria (cobalamin deficiency) cblB type	190					cobalamin biosynthetic process	mitochondrion	ATP binding|cob(I)yrinic acid a,c-diamide adenosyltransferase activity			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|urinary_tract(1)	6					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TCGGCCCGGCGGCACACGGCC	0.652													A	109998861	G	A	109998861	3	1	737	1	0	0	0	0	1	0	0	0	9715	1116	39	1	196	1	MMAB	12	109998861	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	56990422	109998861	23853034	28	55901											
MYH6	4624	broad.mit.edu	37	chr14	23874315	23874315	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcactcgctcacgtgatgAggatggactggttctcccga	7	10	13	11	3	2	2	1	2	1	0	4	5	2	4	1	4	0	3	1	4	0	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:23874315A>T	ENST00000405093.3	-	6	594	c.524T>A	c.(523-525)cTc>cAc	p.L175H	MYH6_ENST00000356287.3_Missense_Mutation_p.L175H	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	175	Myosin head-like.				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		TCACGTGATGAGGATGGACTG	0.582													T	23874315	A	T	23874315	3	4	737	1	0	0	0	0	1	0	0	0	10114	304	11	5	5431	5	MYH6	14	23874315	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08		23874315	83475225	29	55902											
LTB4R	1241	broad.mit.edu	37	chr14	24785430	24785430	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggctgtcacgggcttcctGctgcccttcctggctgtggt	2	12	14	13	1	1	0	1	0	0	0	3	1	3	0	3	4	2	4	3	4	0	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr14:24785430G>T	ENST00000396789.4	+	2	2298	c.573G>T	c.(571-573)ctG>ctT	p.L191L	LTB4R_ENST00000345363.3_Silent_p.L191L|LTB4R_ENST00000396782.2_Silent_p.L191L	NM_181657.3	NP_858043.1	Q15722	LT4R1_HUMAN	leukotriene B4 receptor	191					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular component movement|immune response|inflammatory response|muscle contraction	integral to plasma membrane	nucleotide binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|stomach(1)	8				GBM - Glioblastoma multiforme(265;0.018)		CGGGCTTCCTGCTGCCCTTCC	0.672													T	24785430	G	T	24785430	2	4	737	1	0	0	0	0	0	0	0	1	9141	1306	46	4		4	LTB4R	14	24785430	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	911115	24785430	82564110	30	55903											
FAM96A	84191	broad.mit.edu	37	chr15	64381046	64381046	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gggtcccggatagttctaatCaaatctaaagaatcatcaga	15	10	8	8	1	5	2	3	0	2	2	6	3	6	3	1	2	0	1	1	2	6	4			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr15:64381046C>G	ENST00000557835.1	-	2	155	c.129G>C	c.(127-129)ttG>ttC	p.L43F	FAM96A_ENST00000380290.3_Missense_Mutation_p.L43F|FAM96A_ENST00000559950.1_Missense_Mutation_p.L43F|FAM96A_ENST00000300030.3_Missense_Mutation_p.L43F			Q9H5X1	FA96A_HUMAN	family with sequence similarity 96, member A	43					chromosome segregation					kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|urinary_tract(1)	9						TAGTTCTAATCAAATCTAAAG	0.348													G	64381046	C	G	64381046	3	3	737	1	0	0	0	0	1	0	0	0	5703	825	29	4	369	4	FAM96A	15	64381046	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		64381046	38150346	31	55904											
CACNA1H	8912	broad.mit.edu	37	chr16	1268228	1268228	+	Frame_Shift_Del	DEL	T	T	-																															aggacacgctgcgcgagtgcTcccgtgaggacaagcactgc																										TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:1268228delT	ENST00000348261.5	+	33	5712	c.5464delT	c.(5464-5466)tccfs	p.S1822fs	CACNA1H_ENST00000565831.1_Frame_Shift_Del_p.S1816fs|CACNA1H_ENST00000358590.4_Frame_Shift_Del_p.S1816fs	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	1822					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	GCGCGAGTGCTCCCGTGAGGA	0.697													-	1268228	T	-	1268228	7	5	737	1	0	1	0	1	0	0	0	0	2571	1551	54	0	5590	0	CACNA1H	16	1268228	Frame_Shift_Del	DEL	T	TCGA-S9-A7R8-01A-11D-A34J-08		1268228	89086525	32	55905											
SLC9A3R2	9351	broad.mit.edu	37	chr16	2087555	2087555	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccagctcaatggtggctctgCgtgctcgtcccgaagtgacc	6	9	12	14	3	2	1	1	1	1	0	4	2	3	1	3	2	3	3	3	2	2	0			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:2087555C>T	ENST00000424542.2	+	6	947	c.809C>T	c.(808-810)gCg>gTg	p.A270V	SLC9A3R2_ENST00000566198.1_Missense_Mutation_p.A159V|SLC9A3R2_ENST00000563587.1_Missense_Mutation_p.A164V|SLC9A3R2_ENST00000432365.2_Missense_Mutation_p.A270V	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	270					protein complex assembly	apical plasma membrane|endomembrane system|nucleus	beta-catenin binding|phosphatase binding|protein C-terminus binding|receptor binding			central_nervous_system(1)|endometrium(1)	2						GGTGGCTCTGCGTGCTCGTCC	0.582													T	2087555	C	T	2087555	3	4	737	1	0	0	0	0	1	0	0	0	14809	768	27	1	831	1	SLC9A3R2	16	2087555	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	819327	2087555	88267198	33	55906											
NOMO2	283820	broad.mit.edu	37	chr16	18554945	18554945	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctttgcttacctctttAgttactaaagaagaaaagag	13	16	6	6	0	2	3	0	0	2	3	2	3	2	3	1	0	3	2	1	0	8	8			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr16:18554945A>C	ENST00000330537.6	-	7	899	c.729T>G	c.(727-729)acT>acG	p.T243T	NOMO2_ENST00000543392.1_Silent_p.T76T|NOMO2_ENST00000381474.3_Silent_p.T243T	NM_173614.2	NP_775885.1	Q5JPE7	NOMO2_HUMAN	NODAL modulator 2	243						endoplasmic reticulum membrane|integral to membrane	carbohydrate binding|carboxypeptidase activity|protein binding			endometrium(4)|kidney(1)|large_intestine(2)|liver(3)|lung(5)|ovary(3)|prostate(1)|skin(1)	20						TTACCTCTTTAGTTACTAAAG	0.438													C	18554945	A	C	18554945	2	2	737	1	0	0	0	0	0	0	0	1	10608	407	15	5		5	NOMO2	16	18554945	Silent	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	16467390	18554945	71799808	34	55907											
TP53	7157	broad.mit.edu	37	chr17	7577124	7577124	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggacaggcacaaacacgcaCctcaaagctgttccgtccca	13	5	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs121912657		TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:7577124C>T	ENST00000420246.2	-	8	946	c.814G>A	c.(814-816)Gtg>Atg	p.V272M	TP53_ENST00000359597.4_Missense_Mutation_p.V272M|TP53_ENST00000445888.2_Missense_Mutation_p.V272M|TP53_ENST00000455263.2_Missense_Mutation_p.V272M|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.V272M	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	272	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		V -> A (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> M (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.V272M(82)|p.V272L(26)|p.0?(8)|p.V272fs*73(4)|p.?(2)|p.F270fs*72(1)|p.E271fs*73(1)|p.V272fs*34(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.G266_E271delGRNSFE(1)|p.V272fs*74(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CAAACACGCACCTCAAAGCTG	0.527		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)			T	7577124	C	T	7577124	3	4	737	1	0	0	0	0	1	0	0	0	16482	507	18	2	472	2	TP53	17	7577124	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		7577124	73618086	35	55908											
DNAH17	8632	broad.mit.edu	37	chr17	76491163	76491163	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatcagttcgaagtcggggaCgaccatggcacagggcctgg	9	7	15	10	3	1	0	1	0	0	0	3	3	1	1	2	5	0	2	2	5	2	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr17:76491163C>T	ENST00000389840.5	-	39	6002	c.5878G>A	c.(5878-5880)Gtc>Atc	p.V1960I	DNAH17_ENST00000585328.1_Missense_Mutation_p.V1969I|RP11-559N14.5_ENST00000591373.1_RNA					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			AAGTCGGGGACGACCATGGCA	0.607													T	76491163	C	T	76491163	3	4	737	1	0	0	0	0	1	0	0	0	4640	536	19	1	7640	1	DNAH17	17	76491163	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	68914039	76491163	4704047	36	55909											
C3	718	broad.mit.edu	37	chr19	6677968	6677968	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgtttctggttctcttcGtcttggcattcgtcctcctc	2	19	7	13	2	3	0	0	0	3	0	9	0	5	0	2	2	0	3	2	2	0	6			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:6677968G>A	ENST00000245907.6	-	41	5009	c.4917C>T	c.(4915-4917)gaC>gaT	p.D1639D	C3_ENST00000599668.1_5'UTR	NM_000064.2	NP_000055.2	P01024	CO3_HUMAN	complement component 3	1639	NTR.				complement activation, alternative pathway|complement activation, classical pathway|G-protein coupled receptor protein signaling pathway|inflammatory response|positive regulation vascular endothelial growth factor production	extracellular space	endopeptidase inhibitor activity|receptor binding			breast(5)|endometrium(7)|kidney(6)|large_intestine(18)|liver(1)|lung(18)|ovary(1)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)	72				GBM - Glioblastoma multiforme(1328;1.36e-05)|Lung(535;0.00661)		GGTTCTCTTCGTCTTGGCATT	0.597													A	6677968	G	A	6677968	2	1	737	1	0	0	0	0	0	0	0	1	2225	1136	40	1		1	C3	19	6677968	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		6677968	52451015	37	55910											
JAK3	3718	broad.mit.edu	37	chr19	17954587	17954587	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggggggcacttcctaccGaatcctgtacagcaggactt	8	9	12	12	1	0	0	0	0	0	0	2	2	2	1	3	4	3	4	3	4	3	4			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:17954587G>A	ENST00000458235.1	-	3	406	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C	JAK3_ENST00000527670.1_Splice_Site_p.R103C|JAK3_ENST00000526008.1_5'UTR|JAK3_ENST00000534444.1_Splice_Site_p.R103C	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3	103	FERM.|Interaction with cytokine/interferon/growth hormone receptors (By similarity).			R -> RS (in Ref. 3; AAC50950).	B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						ACTTCCTACCGAATCCTGTAC	0.592		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								A	17954587	G	A	17954587	5	1	737	1	0	0	0	0	0	0	1	0	7997	1072	37	1	3155	1	JAK3	19	17954587	Splice_Site	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	11276619	17954587	41174396	38	55911											
FFAR2	2867	broad.mit.edu	37	chr19	35941457	35941457	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttctcttcttcagtggtgCgcagggcatttgggagaggg	6	13	15	7	1	3	1	1	0	2	1	4	2	3	1	0	4	1	2	0	4	0	4			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:35941457C>T	ENST00000599180.2	+	2	921	c.841C>T	c.(841-843)Cgc>Tgc	p.R281C	FFAR2_ENST00000246549.2_Missense_Mutation_p.R281C|FFAR2_ENST00000601590.1_Intron			O15552	FFAR2_HUMAN	free fatty acid receptor 2							integral to plasma membrane	G-protein coupled receptor activity|lipid binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TTCAGTGGTGCGCAGGGCATT	0.577													T	35941457	C	T	35941457	3	4	737	1	0	0	0	0	1	0	0	0	5877	768	27	1	843	1	FFAR2	19	35941457	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	17986870	35941457	23187526	39	55912											
ZC3H4	23211	broad.mit.edu	37	chr19	47569810	47569810	+	Frame_Shift_Del	DEL	C	C	-																															gggctggggtggggcaccctCggggggtggggtggcggtgg																										TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:47569810delC	ENST00000253048.5	-	15	3752	c.3715delG	c.(3715-3717)gagfs	p.E1239fs	ZC3H4_ENST00000594019.1_5'UTR	NM_015168.1	NP_055983.1	Q9UPT8	ZC3H4_HUMAN	zinc finger CCCH-type containing 4	1239							nucleic acid binding|zinc ion binding			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(13)|ovary(4)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)	41		all_cancers(25;3.3e-08)|all_epithelial(76;2.28e-06)|all_lung(116;7.86e-06)|Lung NSC(112;2.31e-05)|all_neural(266;0.026)|Ovarian(192;0.0392)|Breast(70;0.0889)		OV - Ovarian serous cystadenocarcinoma(262;5.76e-05)|all cancers(93;7.69e-05)|Epithelial(262;0.00354)|GBM - Glioblastoma multiforme(486;0.0372)		GGGGCACCCTCGGGGGGTGGG	0.701													-	47569810	C	-	47569810	7	5	737	1	0	1	0	1	0	0	0	0	17671	893	31	0	200	0	ZC3H4	19	47569810	Frame_Shift_Del	DEL	C	TCGA-S9-A7R8-01A-11D-A34J-08	11628353	47569810	11559173	40	55913											
GLTSCR2	29997	broad.mit.edu	37	chr19	48248981	48248981	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cggcggcttgctcaggagccGctggggctggaggttgacca	5	7	18	11	3	1	1	1	1	0	0	1	3	1	3	2	7	2	5	2	7	0	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:48248981G>A	ENST00000246802.5	+	1	203	c.165G>A	c.(163-165)ccG>ccA	p.P55P	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	55						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		CTCAGGAGCCGCTGGGGCTGG	0.697													A	48248981	G	A	48248981	2	1	737	1	0	0	0	0	0	0	0	1	6531	1074	38	1		1	GLTSCR2	19	48248981	Silent	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	679171	48248981	10880002	41	55914											
NLRP5	126206	broad.mit.edu	37	chr19	56552352	56552352	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagccctcgtcagcaacCggagcttgacacacctgtgc	8	7	9	17	2	2	1	2	1	0	0	3	2	2	2	4	1	5	2	4	1	1	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr19:56552352C>T	ENST00000390649.3	+	11	2851	c.2851C>T	c.(2851-2853)Cgg>Tgg	p.R951W		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CGTCAGCAACCGGAGCTTGAC	0.562													T	56552352	C	T	56552352	3	4	737	1	0	0	0	0	1	0	0	0	10556	643	23	1	2893	1	NLRP5	19	56552352	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	8303371	56552352	2576631	42	55915											
CHGB	1114	broad.mit.edu	37	chr20	5905691	5905691	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgagaaattcagccaaagggGctgactgtcattggagcggt	11	9	14	7	1	2	2	2	2	0	1	2	4	2	3	1	4	2	1	1	4	2	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:5905691G>A	ENST00000378961.4	+	5	2234	c.2030G>A	c.(2029-2031)gGc>gAc	p.G677D		NM_001819.2	NP_001810.2	P05060	SCG1_HUMAN	chromogranin B (secretogranin 1)	677						extracellular region	hormone activity			breast(7)|kidney(2)|large_intestine(8)|lung(19)|ovary(1)|pancreas(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	47						AGCCAAAGGGGCTGACTGTCA	0.438													A	5905691	G	A	5905691	3	1	737	1	0	0	0	0	1	0	0	0	3369	1203	42	2	2048	2	CHGB	20	5905691	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		5905691	57119829	43	55916											
RBL1	5933	broad.mit.edu	37	chr20	35672586	35672586	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccaaaatctgttcttcaAtgctgtttaggtgtttcacc	8	17	6	10	0	5	0	2	0	3	0	6	0	5	0	2	1	1	4	2	1	4	5			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr20:35672586A>G	ENST00000373664.3	-	13	1739	c.1673T>C	c.(1672-1674)aTt>aCt	p.I558T	RBL1_ENST00000344359.3_Missense_Mutation_p.I558T	NM_002895.2	NP_002886.2	P28749	RBL1_HUMAN	retinoblastoma-like 1 (p107)	558	Domain A.|Pocket; binds T and E1A.				cell cycle|chromatin modification|interspecies interaction between organisms|regulation of cell cycle|regulation of lipid kinase activity|transcription, DNA-dependent		transcription factor binding			NS(1)|breast(1)|endometrium(7)|large_intestine(6)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	42		Myeloproliferative disorder(115;0.00878)				CTGTTCTTCAATGCTGTTTAG	0.478													G	35672586	A	G	35672586	3	3	737	1	0	0	0	0	1	0	0	0	13197	101	4	3	1582	3	RBL1	20	35672586	Missense_Mutation	SNP	A	TCGA-S9-A7R8-01A-11D-A34J-08	29766895	35672586	27352934	44	55917											
BAGE2	85319	broad.mit.edu	37	chr21	11038748	11038748	+	RNA	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtttggaccgaggtctacCaggagaaaattttctcttag	10	13	10	8	1	2	1	0	0	2	1	3	4	2	2	2	3	1	1	2	3	4	5	rs75164355	by1000genomes	TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chr21:11038748C>T	ENST00000470054.1	-	0	1455									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CGAGGTCTACCAGGAGAAAAT	0.378													T	11038748	C	T	11038748	1	4	737	0	1	0	0	0	0	0	0	0	1297	609	21	2		2	BAGE2	21	11038748	RNA	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08		11038748	37091147	45	55918											
CSF2RA	1438	broad.mit.edu	37	chrX	1407750	1407750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccgacggccccccgtgacGtccagtattttttgtacata	7	12	9	13	4	0	1	0	1	0	0	2	2	2	1	5	1	1	2	5	1	3	6			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:1407750G>A	ENST00000381524.3	+	6	628	c.442G>A	c.(442-444)Gtc>Atc	p.V148I	CSF2RA_ENST00000381529.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000417535.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000432318.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000381509.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000381500.1_Missense_Mutation_p.V148I|CSF2RA_ENST00000361536.3_Missense_Mutation_p.V148I|CSF2RA_ENST00000355805.2_Missense_Mutation_p.V148I|CSF2RA_ENST00000501036.2_Missense_Mutation_p.V15I|CSF2RA_ENST00000494969.2_Intron|CSF2RA_ENST00000355432.3_Missense_Mutation_p.V148I			P15509	CSF2R_HUMAN	colony stimulating factor 2 receptor, alpha, low-affinity (granulocyte-macrophage)	148						extracellular region|integral to plasma membrane	cytokine receptor activity			central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(6)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	45		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	CCCCCGTGACGTCCAGTATTT	0.468													A	1407750	G	A	1407750	3	1	737	1	0	0	0	0	1	0	0	0	3967	1145	40	1	456	1	CSF2RA	23	1407750	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08		1407750	153862810	46	55919											
RBM10	8241	broad.mit.edu	37	chrX	47044862	47044862	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gccctccgcgaggactggtgGcagcctacagcggggagagt	7	5	17	12	3	0	1	0	0	0	1	1	4	1	2	3	5	3	1	3	5	1	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:47044862G>A	ENST00000377604.3	+	20	2930	c.2188G>A	c.(2188-2190)Gca>Aca	p.A730T	RBM10_ENST00000329236.7_Missense_Mutation_p.A652T|RBM10_ENST00000345781.6_Missense_Mutation_p.A653T	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	730					mRNA processing|RNA splicing	chromatin remodeling complex	nucleotide binding|RNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						AGGACTGGTGGCAGCCTACAG	0.682													A	47044862	G	A	47044862	3	1	737	1	0	0	0	0	1	0	0	0	13199	1203	42	2	2262	2	RBM10	23	47044862	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	45637112	47044862	108225698	47	55920											
ERAS	3266	broad.mit.edu	37	chrX	48688182	48688182	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccatggcaaggtcctgtaggGagaagacccggcaccagaag	12	4	14	11	1	0	3	0	0	0	3	1	4	1	3	4	4	0	3	4	4	4	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:48688182G>A	ENST00000338270.1	+	1	900	c.649G>A	c.(649-651)Gag>Aag	p.E217K		NM_181532.2	NP_853510.1	Q7Z444	RASE_HUMAN	ES cell expressed Ras	217					small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity			endometrium(2)|large_intestine(1)|lung(9)|prostate(1)|urinary_tract(1)	14						GTCCTGTAGGGAGAAGACCCG	0.607													A	48688182	G	A	48688182	3	1	737	1	0	0	0	0	1	0	0	0	5246	1175	41	2	651	2	ERAS	23	48688182	Missense_Mutation	SNP	G	TCGA-S9-A7R8-01A-11D-A34J-08	1643320	48688182	106582378	48	55921											
FOXO4	4303	broad.mit.edu	37	chrX	70321220	70321220	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgccaccaccccctgctgaCgtcctcatgacccaggtaga	9	6	8	18	2	1	3	1	2	0	1	2	3	2	3	6	1	1	2	6	1	1	1			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:70321220C>T	ENST00000374259.3	+	2	1472	c.1140C>T	c.(1138-1140)gaC>gaT	p.D380D	FOXO4_ENST00000341558.3_Silent_p.D325D	NM_001170931.1|NM_005938.3	NP_001164402.1|NP_005929.2	P98177	FOXO4_HUMAN	forkhead box O4	380					cell cycle arrest|cell differentiation|embryo development|G1 phase of mitotic cell cycle|insulin receptor signaling pathway|mitotic cell cycle G2/M transition DNA damage checkpoint|muscle organ development|negative regulation of angiogenesis|negative regulation of cell proliferation|negative regulation of smooth muscle cell differentiation|nerve growth factor receptor signaling pathway|pattern specification process|phosphatidylinositol-mediated signaling|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|tissue development	cytosol|transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|protein kinase binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)	18	Renal(35;0.156)					CCCCTGCTGACGTCCTCATGA	0.652													T	70321220	C	T	70321220	2	4	737	1	0	0	0	0	0	0	0	1	6076	535	19	1		1	FOXO4	23	70321220	Silent	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	21633038	70321220	84949340	49	55922											
ATRX	546	broad.mit.edu	37	chrX	76938331	76938331	+	Frame_Shift_Del	DEL	T	T	-																															cagactgggtttgtcgtttcTttttagaaattatagagctc																										TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938331delT	ENST00000373344.5	-	9	2631	c.2417delA	c.(2416-2418)aagfs	p.K807fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.K769fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	807					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)	TTGTCGTTTCTTTTTAGAAAT	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938331	T	-	76938331	7	5	737	1	0	1	0	1	0	0	0	0	1213	1609	56	0	5169	0	ATRX	23	76938331	Frame_Shift_Del	DEL	T	TCGA-S9-A7R8-01A-11D-A34J-08	6617111	76938331	78332229	50	55923			1	88		2	2	14	N	T	2.183668e-05
ATRX	546	broad.mit.edu	37	chrX	76938344	76938344	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcgtttctttttagaaattaTagagctcttagctgatttgc	9	19	7	6	1	2	3	0	1	2	2	3	3	2	3	0	0	3	3	0	0	5	8			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:76938344T>C	ENST00000373344.5	-	9	2618	c.2404A>G	c.(2404-2406)Ata>Gta	p.I802V	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Missense_Mutation_p.I764V	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	802					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)	TTAGAAATTATAGAGCTCTTA	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76938344	T	C	76938344	3	2	737	1	0	0	0	0	1	0	0	0	1213	1406	49	3	5182	3	ATRX	23	76938344	Missense_Mutation	SNP	T	TCGA-S9-A7R8-01A-11D-A34J-08	13	76938344	78332216	51	55924			1	88		2	2	14	N	T	2.183668e-05
DCAF12L2	340578	broad.mit.edu	37	chrX	125298550	125298550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgcgtagttcccatggaggCctgaagggagaggcccccca	8	6	14	13	1	0	2	0	1	0	1	1	4	1	3	5	4	1	2	5	4	2	2			TCGA-S9-A7R8-01A-11D-A34J-08	TCGA-S9-A7R8-10A-01D-A34M-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9f2bae49-b44d-4a18-a879-f8e2cfd101f7	558b5281-6ff0-4b99-abbe-a31fb76d06b4	g.chrX:125298550C>T	ENST00000538699.1	-	2	1438	c.1358G>A	c.(1357-1359)gGc>gAc	p.G453D	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G453D	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	453										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CCCATGGAGGCCTGAAGGGAG	0.547													T	125298550	C	T	125298550	3	4	737	1	0	0	0	0	1	0	0	0	4299	739	26	2	37	2	DCAF12L2	23	125298550	Missense_Mutation	SNP	C	TCGA-S9-A7R8-01A-11D-A34J-08	48360206	125298550	29972010	52	55925											
HMCN1	83872	broad.mit.edu	37	chr1	186105941	186105941	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctctatttcctgggatgaccGggttaacgtgttgtccaaca	8	13	10	10	2	1	1	0	1	1	0	3	2	3	2	3	2	2	2	3	2	3	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:186105941G>A	ENST00000271588.4	+	87	13683	c.13454G>A	c.(13453-13455)cGg>cAg	p.R4485Q	HMCN1_ENST00000367492.2_Missense_Mutation_p.R4485Q	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	4485	Ig-like C2-type 44.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGGGATGACCGGGTTAACGTG	0.433													A	186105941	G	A	186105941	3	1	738	1	0	0	0	0	1	0	0	0	7275	1116	39	1	13800	1	HMCN1	1	186105941	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		186105941	63144680	1	55926											
ATP6V1G3	127124	broad.mit.edu	37	chr1	198492549	198492549	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctctgtagttcacatggAtttctggtttcatgtcacag	7	16	10	8	0	5	0	3	0	2	0	5	1	5	1	0	3	0	4	0	3	1	4	rs140981596		TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198492549A>G	ENST00000367381.1	-	5	452	c.347T>C	c.(346-348)aTc>aCc	p.I116T	ATP6V1G3_ENST00000489986.1_Missense_Mutation_p.I116T|ATP6V1G3_ENST00000281087.2_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000367382.1_Missense_Mutation_p.I110T|ATP6V1G3_ENST00000309309.7_3'UTR			Q96LB4	VATG3_HUMAN	ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G3	110					cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|plasma membrane|vacuolar proton-transporting V-type ATPase complex	ATPase binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|prostate(1)	7						GTTCACATGGATTTCTGGTTT	0.393													G	198492549	A	G	198492549	3	3	738	1	0	0	0	0	1	0	0	0	1193	333	12	3	31	3	ATP6V1G3	1	198492549	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	12386608	198492549	50758072	2	55927											
PTPRC	5788	broad.mit.edu	37	chr1	198719744	198719744	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttatgctgacagaactgaaaCatggagaccaggtttgtact	13	11	10	7	0	0	4	0	2	0	2	0	5	0	4	1	2	4	3	1	2	4	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:198719744C>G	ENST00000367376.2	+	29	3361	c.3190C>G	c.(3190-3192)Cat>Gat	p.H1064D	PTPRC_ENST00000594404.1_Missense_Mutation_p.H903D|PTPRC_ENST00000348564.6_Missense_Mutation_p.H905D|PTPRC_ENST00000442510.2_Missense_Mutation_p.H1066D|PTPRC_ENST00000352140.3_Missense_Mutation_p.H1016D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	1064	Tyrosine-protein phosphatase 2.				axon guidance|B cell proliferation|B cell receptor signaling pathway|defense response to virus|immunoglobulin biosynthetic process|negative regulation of cytokine-mediated signaling pathway|negative regulation of protein kinase activity|negative regulation of T cell mediated cytotoxicity|positive regulation of antigen receptor-mediated signaling pathway|positive regulation of B cell proliferation|positive regulation of protein kinase activity|positive regulation of T cell proliferation|regulation of S phase|release of sequestered calcium ion into cytosol|T cell differentiation|T cell receptor signaling pathway	focal adhesion|integral to plasma membrane|membrane raft	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAACTGAAACATGGAGACCA	0.413													G	198719744	C	G	198719744	3	3	738	1	0	0	0	0	1	0	0	0	12885	478	17	4	3311	4	PTPRC	1	198719744	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	227195	198719744	50530877	3	55928											
JMJD4	65094	broad.mit.edu	37	chr1	227920211	227920211	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcgcaaccaaggaggccAgcacctctgtgatgcgccca	9	5	13	14	2	1	1	0	1	1	0	1	2	1	2	4	3	4	2	4	3	2	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr1:227920211A>G	ENST00000366758.3	-	6	1273	c.1274T>C	c.(1273-1275)cTg>cCg	p.L425P	SNAP47_ENST00000480897.1_3'UTR|JMJD4_ENST00000438896.2_Missense_Mutation_p.L409P|JMJD4_ENST00000485807.1_5'UTR|SNAP47_ENST00000366760.1_Intron	NM_023007.2	NP_075383.2	Q9H9V9	JMJD4_HUMAN	jumonji domain containing 4	425										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(1)	9		Prostate(94;0.0885)				CAAGGAGGCCAGCACCTCTGT	0.612													G	227920211	A	G	227920211	3	3	738	1	0	0	0	0	1	0	0	0	8009	188	7	3	121	3	JMJD4	1	227920211	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	29200467	227920211	21330410	4	55929											
DNMT3A	1788	broad.mit.edu	37	chr2	25464457	25464457	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtgtgacgctgcggacgtCcccgacgtacatgatcttcc	6	10	11	14	5	1	2	0	2	1	0	3	4	3	3	3	1	2	2	3	1	1	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:25464457C>A	ENST00000264709.3	-	17	2393	c.2056G>T	c.(2056-2058)Gac>Tac	p.D686Y	DNMT3A_ENST00000380746.4_Missense_Mutation_p.D497Y|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000402667.1_Missense_Mutation_p.D463Y|DNMT3A_ENST00000321117.5_Missense_Mutation_p.D686Y	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	686					regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding	p.D686G(1)		breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTGCGGACGTCCCCGACGTAC	0.627			"Mis, F, N, S"		AML								A	25464457	C	A	25464457	3	1	738	1	0	0	0	0	1	0	0	0	4715	855	30	4	710	4	DNMT3A	2	25464457	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		25464457	217734916	5	55930											
PKP4	8502	broad.mit.edu	37	chr2	159459581	159459581	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttctttctttttctttaGctcaactgagaagtcatttc	7	22	4	8	0	5	1	2	1	3	1	6	2	5	1	0	0	2	1	0	0	3	8			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:159459581G>A	ENST00000389757.3	+	4	370		c.e4-1		PKP4_ENST00000389759.3_Splice_Site	NM_001005476.1	NP_001005476.1	Q99569	PKP4_HUMAN	plakophilin 4						cell adhesion	desmosome	protein binding			breast(2)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(9)|lung(21)|ovary(6)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	61						TTTTTCTTTAGCTCAACTGAG	0.259										HNSCC(62;0.18)			A	159459581	G	A	159459581	5	1	738	1	0	0	0	0	0	0	1	0	12064	985	34	2	255	2	PKP4	2	159459581	Splice_Site	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	133995124	159459581	83739792	6	55931											
PLA2R1	22925	broad.mit.edu	37	chr2	160901539	160901539	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcctcctatgttaaagaggCcatggtttgaaacccatttc	10	13	8	10	0	0	2	0	1	0	1	2	2	1	2	4	2	2	2	4	2	4	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:160901539C>T	ENST00000283243.7	-	2	445	c.239G>A	c.(238-240)gGc>gAc	p.G80D	PLA2R1_ENST00000392771.1_Missense_Mutation_p.G80D	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	80	Ricin B-type lectin.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						GTTAAAGAGGCCATGGTTTGA	0.478													T	160901539	C	T	160901539	3	4	738	1	0	0	0	0	1	0	0	0	12087	739	26	2	4276	2	PLA2R1	2	160901539	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	1441958	160901539	82297834	7	55932											
LRP2	4036	broad.mit.edu	37	chr2	170093622	170093622	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aaaagtcttacttcattctgGgatctaatgctagtcctctt	10	16	6	9	0	5	0	1	0	4	0	6	1	6	1	1	1	2	1	1	1	5	6			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:170093622G>A	ENST00000263816.3	-	28	4967	c.4682C>T	c.(4681-4683)cCc>cTc	p.P1561L		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1561					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	CTTCATTCTGGGATCTAATGC	0.368													A	170093622	G	A	170093622	3	1	738	1	0	0	0	0	1	0	0	0	9026	1232	43	2	9493	2	LRP2	2	170093622	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9192083	170093622	73105751	8	55933											
CXCR2	3579	broad.mit.edu	37	chr2	218999635	218999635	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttttctactagatgccgcCccatgtgaaccagaatccct	9	11	6	15	1	1	3	0	1	1	2	2	3	2	3	6	0	3	0	6	0	4	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr2:218999635C>T	ENST00000318507.2	+	3	538	c.111C>T	c.(109-111)gcC>gcT	p.A37A		NM_001557.3	NP_001548.1	P25025	CXCR2_HUMAN	chemokine (C-X-C motif) receptor 2	37					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|cellular defense response|dendritic cell chemotaxis|inflammatory response|neutrophil activation|neutrophil chemotaxis|positive regulation of cell proliferation	cell surface|integral to plasma membrane|mast cell granule	interleukin-8 receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(11)|skin(1)|stomach(1)	22						TAGATGCCGCCCCATGTGAAC	0.458													T	218999635	C	T	218999635	2	4	738	1	0	0	0	0	0	0	0	1	4124	610	22	2		2	CXCR2	2	218999635	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	48906013	218999635	24199738	9	55934											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69344613	69344613	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcacaggtgactctcatagaCgctacaacttgcaatgaacc	13	8	8	12	1	1	3	1	2	1	1	2	3	1	3	1	1	4	3	1	1	5	3	rs144869043	byFrequency	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr4:69344613C>T	ENST00000305363.4	+	9	1078	c.1014C>T	c.(1012-1014)gaC>gaT	p.D338D		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	338	Peptidase S1.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CTCTCATAGACGCTACAACTT	0.363													T	69344613	C	T	69344613	2	4	738	1	0	0	0	0	0	0	0	1	16342	535	19	1		1	TMPRSS11E	4	69344613	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		69344613	121809663	10	55935											
PKD2L2	27039	broad.mit.edu	37	chr5	137259133	137259133	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttcttggcaattattaatGatacctattctgaagtgaaa	13	16	7	5	0	2	3	0	3	2	0	2	3	2	3	1	1	1	2	1	1	7	7			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:137259133G>T	ENST00000508638.1	+	8	1226	c.1171G>T	c.(1171-1173)Gat>Tat	p.D391Y	PKD2L2_ENST00000290431.5_Missense_Mutation_p.D492Y|PKD2L2_ENST00000350250.4_Missense_Mutation_p.D458Y|PKD2L2_ENST00000508883.1_Missense_Mutation_p.D492Y|PKD2L2_ENST00000502810.1_Missense_Mutation_p.D470Y	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	391						integral to membrane	calcium ion binding|ion channel activity			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			AATTATTAATGATACCTATTC	0.274													T	137259133	G	T	137259133	3	4	738	1	0	0	0	0	1	0	0	0	12045	1290	45	4	1512	4	PKD2L2	5	137259133	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		137259133	43656127	11	55936											
AFAP1L1	134265	broad.mit.edu	37	chr5	148699992	148699992	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaatcagtggcctgagccccGagtctatgatgatgttcctt	8	12	11	10	1	2	3	1	3	1	0	3	5	3	3	4	1	1	1	4	1	2	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:148699992G>A	ENST00000296721.4	+	14	1762	c.1664G>A	c.(1663-1665)cGa>cAa	p.R555Q	AFAP1L1_ENST00000515000.1_Missense_Mutation_p.R555Q	NM_001146337.1|NM_152406.2	NP_001139809.1|NP_689619.1	Q8TED9	AF1L1_HUMAN	actin filament associated protein 1-like 1	555							protein binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCTGAGCCCCGAGTCTATGAT	0.458													A	148699992	G	A	148699992	3	1	738	1	0	0	0	0	1	0	0	0	354	1058	37	1	1718	1	AFAP1L1	5	148699992	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	11440859	148699992	32215268	12	55937											
HMMR	3161	broad.mit.edu	37	chr5	162909742	162909742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aggctgggaaaaatgcagagGatgttcagcatcagattttg	13	10	13	5	0	2	2	2	0	0	2	2	4	2	4	0	3	2	4	0	3	2	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:162909742G>A	ENST00000393915.4	+	13	1623	c.1480G>A	c.(1480-1482)Gat>Aat	p.D494N	HMMR_ENST00000353866.3_Missense_Mutation_p.D478N|HMMR_ENST00000358715.3_Missense_Mutation_p.D493N|HMMR_ENST00000432118.2_Missense_Mutation_p.D407N	NM_001142556.1|NM_012484.2	NP_001136028.1|NP_036616.2	O75330	HMMR_HUMAN	hyaluronan-mediated motility receptor (RHAMM)	493						cell surface|cytoplasm	hyaluronic acid binding			cervix(1)|kidney(3)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	23	Renal(175;0.000281)	Medulloblastoma(196;0.00853)|all_neural(177;0.0408)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0296)|OV - Ovarian serous cystadenocarcinoma(192;0.0423)|Epithelial(171;0.0848)		AAATGCAGAGGATGTTCAGCA	0.378													A	162909742	G	A	162909742	3	1	738	1	0	0	0	0	1	0	0	0	7297	1174	41	2	1530	2	HMMR	5	162909742	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	14209750	162909742	18005518	13	55938											
FLT4	2324	broad.mit.edu	37	chr5	180038363	180038363	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtggcgctgcaggcttggCgggctgtcctcagcgtcagc	3	9	16	13	3	2	0	2	0	0	0	3	0	3	0	1	4	3	4	1	4	0	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr5:180038363C>T	ENST00000261937.6	-	27	3732	c.3654G>A	c.(3652-3654)ccG>ccA	p.P1218P	FLT4_ENST00000502649.1_Silent_p.P1218P|FLT4_ENST00000393347.3_Silent_p.P1218P	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	1218					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|protein phosphatase binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Sorafenib(DB00398)|Sunitinib(DB01268)	GCAGGCTTGGCGGGCTGTCCT	0.637													T	180038363	C	T	180038363	2	4	738	1	0	0	0	0	0	0	0	1	5993	755	27	1		1	FLT4	5	180038363	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	17128621	180038363	876897	14	55939											
SYCP2L	221711	broad.mit.edu	37	chr6	10956459	10956459	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgaaaacttcactaaaaaacGgaaaagaaaatatgaggtag	22	7	8	4	1	1	3	1	2	0	1	1	4	1	4	0	2	2	1	0	2	11	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:10956459G>T	ENST00000283141.6	+	25	2443	c.2147G>T	c.(2146-2148)cGg>cTg	p.R716L		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	716						nucleus				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			ACTAAAAAACGGAAAAGAAAA	0.388													T	10956459	G	T	10956459	3	4	738	1	0	0	0	0	1	0	0	0	15530	1116	39	4	2245	4	SYCP2L	6	10956459	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		10956459	160158608	15	55940											
ARMC2	84071	broad.mit.edu	37	chr6	109286254	109286254	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttggtttgtaaaactttatGgaacttcagtgaaaacatca	14	14	7	6	0	2	1	2	1	0	0	2	2	2	2	0	2	3	2	0	2	6	6			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:109286254G>A	ENST00000392644.4	+	17	2525	c.2357G>A	c.(2356-2358)tGg>tAg	p.W786*	ARMC2_ENST00000368972.3_Nonsense_Mutation_p.W621*|ARMC2_ENST00000481850.1_3'UTR	NM_032131.4	NP_115507.4	Q8NEN0	ARMC2_HUMAN	armadillo repeat containing 2	786							binding			endometrium(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|skin(1)	24		all_cancers(87;1.14e-07)|Acute lymphoblastic leukemia(125;2.3e-10)|all_hematologic(75;3.3e-08)|all_epithelial(87;0.000111)|Colorectal(196;0.03)|all_lung(197;0.11)		Epithelial(106;0.000197)|BRCA - Breast invasive adenocarcinoma(108;0.000236)|all cancers(137;0.000279)|OV - Ovarian serous cystadenocarcinoma(136;0.00434)		AAAACTTTATGGAACTTCAGT	0.373													A	109286254	G	A	109286254	4	1	738	1	0	0	0	0	0	1	0	0	956	1357	47	2	2419	2	ARMC2	6	109286254	Nonsense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	98329795	109286254	61828813	16	55941											
AKAP7	9465	broad.mit.edu	37	chr6	131574228	131574228	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagagatacagcaaggataTacccagttggtcaagtggta	15	8	11	7	0	1	1	1	0	0	1	1	3	1	2	1	3	3	3	1	3	6	5			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:131574228T>C	ENST00000474850.2	+	2	239	c.101T>C	c.(100-102)aTa>aCa	p.I34T	AKAP7_ENST00000342266.4_Intron|AKAP7_ENST00000537868.1_Intron|AKAP7_ENST00000431975.2_Intron|AKAP7_ENST00000263050.3_Intron|AKAP7_ENST00000541650.1_Intron|AKAP7_ENST00000368123.4_Intron	NM_138633.2	NP_619539.1	O43687	AKA7A_HUMAN	A kinase (PRKA) anchor protein 7	34	Required for apical membrane localization.				intracellular signal transduction|ion transport	apical plasma membrane|intracellular|lateral plasma membrane	protein kinase A binding			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|stomach(1)	13	Breast(56;0.152)			GBM - Glioblastoma multiforme(226;0.0184)|OV - Ovarian serous cystadenocarcinoma(155;0.0345)		AGCAAGGATATACCCAGTTGG	0.443													C	131574228	T	C	131574228	3	2	738	1	0	0	0	0	1	0	0	0	456	1406	49	3	915	3	AKAP7	6	131574228	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	22287974	131574228	39540839	17	55942											
ULBP3	79465	broad.mit.edu	37	chr6	150387184	150387184	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagataagaccttgtcactgCcacagtcataggagagaaaa	16	8	9	8	0	2	3	2	0	0	3	2	5	2	4	2	1	1	0	2	1	5	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr6:150387184C>T	ENST00000367339.2	-	2	231	c.203G>A	c.(202-204)gGc>gAc	p.G68D	ULBP3_ENST00000438272.2_Missense_Mutation_p.G68D			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		CTTGTCACTGCCACAGTCATA	0.498													T	150387184	C	T	150387184	3	4	738	1	0	0	0	0	1	0	0	0	17076	739	26	2	542	2	ULBP3	6	150387184	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	18812956	150387184	20727883	18	55943											
TNRC18	84629	broad.mit.edu	37	chr7	5360010	5360010	+	Frame_Shift_Del	DEL	G	G	-																															ctccagtaggctgcaatcctGgtcccttgtggcaagaagcg																										TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:5360010delG	ENST00000399537.4	-	24	7032	c.6684delC	c.(6682-6684)accfs	p.T2228fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.T2228fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2228							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CTGCAATCCTGGTCCCTTGTG	0.597													-	5360010	G	-	5360010	7	5	738	1	0	1	0	1	0	0	0	0	16439	1335	47	0	2250	0	TNRC18	7	5360010	Frame_Shift_Del	DEL	G	TCGA-S9-A89V-01A-11D-A36O-08		5360010	153778653	19	55944											
RAB19	401409	broad.mit.edu	37	chr7	140111797	140111797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtccacgttcgagtccatcCctcactggattcatgagata	9	11	9	12	2	2	1	2	1	0	1	6	4	5	2	3	2	0	1	3	2	1	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr7:140111797C>T	ENST00000275874.5	+	4	664	c.466C>T	c.(466-468)Cct>Tct	p.P156S	RAB19_ENST00000537763.1_Missense_Mutation_p.P109S|RAB19_ENST00000356407.3_Missense_Mutation_p.P109S			A4D1S5	RAB19_HUMAN	RAB19, member RAS oncogene family	109					protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding			breast(3)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9	Melanoma(164;0.0142)					CGAGTCCATCCCTCACTGGAT	0.498													T	140111797	C	T	140111797	3	4	738	1	0	0	0	0	1	0	0	0	12992	623	22	2	331	2	RAB19	7	140111797	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	134751787	140111797	19026866	20	55945											
KCNQ3	3786	broad.mit.edu	37	chr8	133142022	133142022	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gggctgactttgtcaatggtCacctggtggaagctgtaggg	7	11	16	7	0	2	1	2	1	0	0	2	2	2	2	1	5	1	3	1	5	3	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr8:133142022C>T	ENST00000388996.4	-	15	2526	c.2106G>A	c.(2104-2106)gtG>gtA	p.V702V	KCNQ3_ENST00000521134.1_Silent_p.V582V|KCNQ3_ENST00000519445.1_Silent_p.V690V	NM_004519.3	NP_004510.1	O43525	KCNQ3_HUMAN	potassium voltage-gated channel, KQT-like subfamily, member 3	702					axon guidance|synaptic transmission	voltage-gated potassium channel complex	voltage-gated potassium channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	70	Esophageal squamous(12;0.00507)|Ovarian(258;0.00579)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.000311)			TGTCAATGGTCACCTGGTGGA	0.527													T	133142022	C	T	133142022	2	4	738	1	0	0	0	0	0	0	0	1	8142	813	29	2		2	KCNQ3	8	133142022	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		133142022	13222000	21	55946											
AGAP7	653268	broad.mit.edu	37	chr10	51464823	51464823	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttctcctcatatttggaacGgatccaccgttccttctctt	6	16	5	14	2	3	0	1	0	2	0	7	2	5	2	4	2	1	1	4	2	2	6			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:51464823G>A	ENST00000374095.5	-	7	1758	c.1633C>T	c.(1633-1635)Cgt>Tgt	p.R545C		NM_001077685.1	NP_001071153.1	Q5VUJ5	AGAP7_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 7	545	Arf-GAP.				regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	11						TATTTGGAACGGATCCACCGT	0.582													A	51464823	G	A	51464823	3	1	738	1	0	0	0	0	1	0	0	0	373	1116	39	1	362	1	AGAP7	10	51464823	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		51464823	84069924	22	55947											
SLC18A2	6571	broad.mit.edu	37	chr10	119017386	119017386	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gatgatggagaccatgtgttCccgaaagtggcagctgggta	10	9	15	7	1	0	2	0	1	0	1	1	5	1	2	2	3	1	4	2	3	2	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr10:119017386C>T	ENST00000298472.5	+	10	1117	c.974C>T	c.(973-975)tCc>tTc	p.S325F	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	325					neurotransmitter secretion	clathrin sculpted monoamine transport vesicle membrane|integral to plasma membrane|membrane fraction	monoamine transmembrane transporter activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Alseroxylon(DB00386)|Reserpine(DB00206)|Tetrabenazine(DB04844)	ACCATGTGTTCCCGAAAGTGG	0.572													T	119017386	C	T	119017386	3	4	738	1	0	0	0	0	1	0	0	0	14520	855	30	2	1008	2	SLC18A2	10	119017386	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	67552563	119017386	16517361	23	55948											
SHANK2	22941	broad.mit.edu	37	chr11	70331677	70331677	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggcggggggataacaaagCtatctacatcttcttccacg	10	9	11	11	3	3	0	0	0	3	0	4	1	4	1	1	4	3	1	1	4	4	5			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:70331677C>A	ENST00000338508.4	-	32	4723	c.4724G>T	c.(4723-4725)aGc>aTc	p.S1575I	SHANK2_ENST00000449833.2_Missense_Mutation_p.S979I|SHANK2_ENST00000423696.2_Missense_Mutation_p.S1195I|SHANK2_ENST00000409161.1_Missense_Mutation_p.S978I			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1195					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			gATAACAAAGCTATCTACATC	0.572													A	70331677	C	A	70331677	3	1	738	1	0	0	0	0	1	0	0	0	14359	797	28	4	836	4	SHANK2	11	70331677	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		70331677	64674839	24	55949											
PGR	5241	broad.mit.edu	37	chr11	100912815	100912815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcaaactgggtttgacttCgtagcccttccaaaggaact	10	11	8	12	1	1	1	1	1	0	0	3	2	2	2	3	2	3	2	3	2	4	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:100912815C>T	ENST00000325455.5	-	7	3960	c.2507G>A	c.(2506-2508)cGa>cAa	p.R836Q	PGR_ENST00000534013.1_Missense_Mutation_p.R242Q|PGR_ENST00000263463.5_Missense_Mutation_p.R734Q	NM_000926.4|NM_001202474.1|NM_001271162.1	NP_000917.3|NP_001189403.1|NP_001258091.1	P06401	PRGR_HUMAN	progesterone receptor	836	Steroid-binding.				cell-cell signaling|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	enzyme binding|receptor binding|sequence-specific DNA binding transcription factor activity|steroid binding|steroid hormone receptor activity|zinc ion binding	p.R836Q(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(4)|liver(1)|lung(18)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	36		Acute lymphoblastic leukemia(157;0.000885)|all_hematologic(158;0.014)		LUSC - Lung squamous cell carcinoma(1;0.0387)|BRCA - Breast invasive adenocarcinoma(274;0.124)|OV - Ovarian serous cystadenocarcinoma(223;0.148)|Lung(307;0.164)	Desogestrel(DB00304)|Drospirenone(DB01395)|Dydrogesterone(DB00378)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Mifepristone(DB00834)|Norethindrone(DB00717)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)	GGTTTGACTTCGTAGCCCTTC	0.383													T	100912815	C	T	100912815	3	4	738	1	0	0	0	0	1	0	0	0	11882	884	31	1	302	1	PGR	11	100912815	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	30581138	100912815	34093701	25	55950											
OR10G8	219869	broad.mit.edu	37	chr11	123901018	123901018	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catcctgcggatccgcacctCagaggggaagcacagagcct	10	5	12	14	2	1	2	1	0	0	2	3	4	3	4	4	3	3	2	4	3	1	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr11:123901018C>T	ENST00000431524.1	+	1	722	c.689C>T	c.(688-690)tCa>tTa	p.S230L		NM_001004464.1	NP_001004464.1	Q8NGN5	O10G8_HUMAN	olfactory receptor, family 10, subfamily G, member 8	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(7)|large_intestine(2)|lung(21)|ovary(1)|prostate(5)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	44		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		ATCCGCACCTCAGAGGGGAAG	0.537													T	123901018	C	T	123901018	3	4	738	1	0	0	0	0	1	0	0	0	10979	838	29	2	691	2	OR10G8	11	123901018	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	22988203	123901018	11105498	26	55951											
ARID2	196528	broad.mit.edu	37	chr12	46245237	46245238	+	Frame_Shift_Ins	INS	-	-	T																															ccaagccgcaggttttggagINStgcaggggcaaactccagct																										TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr12:46245237_46245238insT	ENST00000334344.6	+	15	3503_3504	c.3331_3332insT	c.(3331-3333)gtgfs	p.V1111fs	ARID2_ENST00000422737.1_Frame_Shift_Ins_p.V962fs|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000444670.1_Frame_Shift_Ins_p.V721fs	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1111	Gln-rich.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		AGGTTTTGGAGTGCAGGGGCAA	0.545			"N, S, F"		hepatocellular carcinoma								T	46245238	-	T	46245237	7	5	738	1	0	1	1	0	0	0	0	0	918	1029	36	0	3389	0	ARID2	12	46245237	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08		46245237	87606658	27	55952											
SOHLH2	54937	broad.mit.edu	37	chr13	36748670	36748670	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggtgtttgttgtttcttaCaaaacctcatgttgctctga	7	18	9	7	0	3	1	1	1	2	0	3	1	3	1	1	1	3	5	1	1	3	5			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:36748670C>G	ENST00000379881.3	-	8	912	c.824G>C	c.(823-825)tGt>tCt	p.C275S	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.C352S|SOHLH2_ENST00000554962.1_Missense_Mutation_p.C352S	NM_017826.2	NP_060296.2			spermatogenesis and oogenesis specific basic helix-loop-helix 2											autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		TTGTTTCTTACAAAACCTCAT	0.383													G	36748670	C	G	36748670	3	3	738	1	0	0	0	0	1	0	0	0	15018	478	17	4	469	4	SOHLH2	13	36748670	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		36748670	78421208	28	55953											
SLC15A1	6564	broad.mit.edu	37	chr13	99337171	99337171	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagaatgtactcggcccacTttgaagaaatcagagttgga	14	10	10	7	1	1	4	1	1	0	3	2	5	1	5	1	2	1	2	1	2	5	4			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr13:99337171T>C	ENST00000376503.5	-	23	1991		c.e23-2			NM_005073.3	NP_005064.1	P46059	S15A1_HUMAN	solute carrier family 15 (oligopeptide transporter), member 1						digestion|protein transport	integral to plasma membrane|membrane fraction	peptide:hydrogen symporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	30	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Cefadroxil(DB01140)|Ceftibuten(DB01415)|Cyclacillin(DB01000)	CTCGGCCCACTTTGAAGAAAT	0.428													C	99337171	T	C	99337171	5	2	738	1	0	0	0	0	0	0	1	0	14492	1623	56	3	196	3	SLC15A1	13	99337171	Splice_Site	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	62588501	99337171	15832707	29	55954											
MGA	23269	broad.mit.edu	37	chr15	42019568	42019568	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaactgctcactggaattaaAtctccacggtcatatactcc	13	11	5	12	1	3	0	2	0	1	0	5	1	4	1	2	2	3	1	2	2	6	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:42019568A>G	ENST00000219905.7	+	10	3802	c.3621A>G	c.(3619-3621)aaA>aaG	p.K1207K	MGA_ENST00000545763.1_Silent_p.K1207K|MGA_ENST00000570161.1_Silent_p.K1207K|MGA_ENST00000566586.1_Silent_p.K1207K|MGA_ENST00000389936.4_Silent_p.K1207K	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	1207						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		CTGGAATTAAATCTCCACGGT	0.413													G	42019568	A	G	42019568	2	3	738	1	0	0	0	0	0	0	0	1	9615	98	4	3		3	MGA	15	42019568	Silent	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		42019568	60511824	30	55955											
TTBK2	146057	broad.mit.edu	37	chr15	43045134	43045138	+	Frame_Shift_Del	DEL	AAATT	AAATT	-																															gtttccccagggagattttcAaattctctcacaaccagtct																										TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:43045134_43045138delAAATT	ENST00000267890.6	-	14	2414_2418	c.2306_2310delAATTT	c.(2305-2310)gaatttfs	p.EF769fs		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	769					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		GGAGATTTTCAAATTCTCTCACAAC	0.39													-	43045138	AAATT	-	43045134	7	5	738	1	0	1	0	1	0	0	0	0	16779	127	5	0	1432	0	TTBK2	15	43045134	Frame_Shift_Del	DEL	AAATT	TCGA-S9-A89V-01A-11D-A36O-08	1025566	43045134	59486258	31	55956											
MEX3B	84206	broad.mit.edu	37	chr15	82337987	82337989	+	In_Frame_Del	DEL	GCC	GCC	-																															gtctctccccctccgctgctGccgccgccgccgccgccgct																										TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr15:82337987_82337989delGCC	ENST00000558133.1	-	1	471_473	c.58_60delGGC	c.(58-60)ggcdel	p.G20del	MEX3B_ENST00000329713.4_In_Frame_Del_p.G20del			Q6ZN04	MEX3B_HUMAN	mex-3 RNA binding family member B	20					protein autophosphorylation	cytoplasmic mRNA processing body|nucleus	calcium ion binding|RNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(5)|lung(9)|upper_aerodigestive_tract(1)	19						CTccgctgctgccgccgccgccg	0.754													-	82337989	GCC	-	82337987	7	5	738	1	0	1	0	1	0	0	0	0	9585	1306	46	0	1657	0	MEX3B	15	82337987	In_Frame_Del	DEL	GCC	TCGA-S9-A89V-01A-11D-A36O-08	39292853	82337987	20193405	32	55957											
PKD1L2	114780	broad.mit.edu	37	chr16	81183425	81183425	+	RNA	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgaagctgctgcgagcgcaGcggctgaagatcgaatacca	11	6	14	10	4	0	3	0	2	0	1	1	5	0	3	1	1	6	4	1	1	4	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr16:81183425G>A	ENST00000533478.1	-	0	2678				PKD1L2_ENST00000525539.1_RNA	NM_001278425.1	NP_001265354.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						TGCGAGCGCAGCGGCTGAAGA	0.607													A	81183425	G	A	81183425	1	1	738	0	1	0	0	0	0	0	0	0	12042	958	34	2		2	PKD1L2	16	81183425	RNA	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		81183425	9171328	33	55958											
MYH1	4619	broad.mit.edu	37	chr17	10404747	10404747	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcccgggagagatcagagcGctgcttctctgctttggccc	5	10	12	14	2	2	2	1	0	1	2	4	4	3	3	2	2	3	3	2	2	0	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:10404747G>A	ENST00000226207.5	-	27	3512	c.3418C>T	c.(3418-3420)Cgc>Tgc	p.R1140C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1140						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						AGATCAGAGCGCTGCTTCTCT	0.587													A	10404747	G	A	10404747	3	1	738	1	0	0	0	0	1	0	0	0	10105	1087	38	1	2457	1	MYH1	17	10404747	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08		10404747	70790463	34	55959											
MAPK7	5598	broad.mit.edu	37	chr17	19284565	19284565	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccttcgccaccctttcctggCcaagtaccatgatcctgatg	7	11	7	16	1	0	2	0	2	0	0	3	2	2	2	7	1	1	1	7	1	2	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:19284565C>G	ENST00000308406.5	+	4	1429	c.1043C>G	c.(1042-1044)gCc>gGc	p.A348G	MAPK7_ENST00000571657.1_Intron|MAPK7_ENST00000395602.4_Missense_Mutation_p.A348G|MAPK7_ENST00000299612.7_Missense_Mutation_p.A209G|MAPK7_ENST00000395604.3_Missense_Mutation_p.A348G	NM_139033.2	NP_620602.2	Q13164	MK07_HUMAN	mitogen-activated protein kinase 7	348	Necessary for oligomerization (By similarity).				cell cycle|cell differentiation|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|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|MAP kinase activity|protein binding			autonomic_ganglia(1)|central_nervous_system(4)|endometrium(5)|kidney(2)|large_intestine(4)|lung(9)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	30	all_cancers(12;2.87e-05)|all_epithelial(12;0.00114)|Hepatocellular(7;0.00345)|Breast(13;0.206)					CCTTTCCTGGCCAAGTACCAT	0.612													G	19284565	C	G	19284565	3	3	738	1	0	0	0	0	1	0	0	0	9357	739	26	4	1053	4	MAPK7	17	19284565	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	8879818	19284565	61910645	35	55960											
NF1	4763	broad.mit.edu	37	chr17	29527526	29527527	+	Frame_Shift_Ins	INS	-	-	A																															gtgctgcaattgcctgtgtcINSaaactgtgtaaagcaagtac																										TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29527526_29527527insA	ENST00000358273.4	+	9	1358_1359	c.975_976insA	c.(976-978)aaafs	p.K326fs	NF1_ENST00000431387.4_Frame_Shift_Ins_p.K326fs|NF1_ENST00000356175.3_Frame_Shift_Ins_p.K326fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	326					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(6)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTGCCTGTGTCAAACTGTGTAA	0.406			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29527527	-	A	29527526	7	5	738	1	0	1	1	0	0	0	0	0	10432	813	29	0	1009	0	NF1	17	29527526	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08	10242961	29527526	51667684	36	55961											
NF1	4763	broad.mit.edu	37	chr17	29665041	29665041	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgtggatcttttaattgcAgatttgcattccaatataat	11	18	6	6	0	2	1	0	0	2	1	3	2	3	2	1	1	2	2	1	1	4	7			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:29665041A>T	ENST00000444181.2	+	2	86	c.82A>T	c.(82-84)Aga>Tga	p.R28*	NF1_ENST00000417592.2_Intron|NF1_ENST00000358273.4_Splice_Site|NF1_ENST00000356175.3_Splice_Site			P21359	NF1_HUMAN	neurofibromin 1	2235					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTTTAATTGCAGATTTGCATT	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			T	29665041	A	T	29665041	4	4	738	1	0	0	0	0	0	1	0	0	10432	202	7	5	6942	5	NF1	17	29665041	Nonsense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08	137515	29665041	51530169	37	55962											
GGNBP2	79893	broad.mit.edu	37	chr17	34901690	34901691	+	Frame_Shift_Ins	INS	-	-	C																															gcgggccgggccgggctgggINScccgccgctcccctggcagc																										TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:34901690_34901691insC	ENST00000485685.2	+	2	409_410	c.117_118insC	c.(118-120)cccfs	p.P40fs	GGNBP2_ENST00000304718.4_Intron			Q9H3C7	GGNB2_HUMAN	gametogenetin binding protein 2	0					cell differentiation|multicellular organismal development|spermatogenesis	cytoplasmic membrane-bounded vesicle				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(1)|lung(14)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(1)	38		Breast(25;0.00957)|Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0193)		gccgggctgggcccgccgcTCC	0.678													C	34901691	-	C	34901690	7	5	738	1	0	1	1	0	0	0	0	0	6415	1218	42	0		0	GGNBP2	17	34901690	Frame_Shift_Ins	INS	-	TCGA-S9-A89V-01A-11D-A36O-08	5236649	34901690	46293520	38	55963											
KRT25	147183	broad.mit.edu	37	chr17	38905574	38905574	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaacccccagacttacaGgctctgtgaaaacatcgcaa	13	9	7	12	1	1	2	0	1	1	1	2	2	1	2	2	1	3	3	2	1	5	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr17:38905574G>T	ENST00000312150.4	-	7	1239	c.1179C>A	c.(1177-1179)gcC>gcA	p.A393A		NM_181534.3	NP_853512.1	Q7Z3Z0	K1C25_HUMAN	keratin 25	393	Tail.					cytoplasm|intermediate filament	structural molecule activity			endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(4)	16		Breast(137;0.00526)				CAGACTTACAGGCTCTGTGAA	0.378													T	38905574	G	T	38905574	2	4	738	1	0	0	0	0	0	0	0	1	8520	987	35	4		4	KRT25	17	38905574	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	4003884	38905574	42289636	39	55964											
RNF125	54941	broad.mit.edu	37	chr18	29645962	29645962	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagtcacactttgttttatgAtgatttcatagtaagtatat	12	19	6	4	0	2	2	2	2	0	0	2	2	2	2	0	0	0	3	0	0	6	9			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:29645962A>C	ENST00000217740.3	+	5	1094	c.602A>C	c.(601-603)gAt>gCt	p.D201A	RP11-53I6.2_ENST00000583184.1_RNA|RNF125_ENST00000583384.1_3'UTR	NM_017831.3	NP_060301.2	Q96EQ8	RN125_HUMAN	ring finger protein 125, E3 ubiquitin protein ligase	201					negative regulation of type I interferon production	intracellular	ligase activity|zinc ion binding			endometrium(1)|lung(4)|upper_aerodigestive_tract(1)	6						TTGTTTTATGATGATTTCATA	0.338													C	29645962	A	C	29645962	3	2	738	1	0	0	0	0	1	0	0	0	13525	333	12	5	620	5	RNF125	18	29645962	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		29645962	48431286	40	55965											
SERPINB7	8710	broad.mit.edu	37	chr18	61449741	61449741	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggccctggtccgcttgggCgctcaagatgactccctctc	4	10	11	16	2	2	2	1	1	1	1	5	2	4	2	3	3	0	2	3	3	1	1			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr18:61449741C>T	ENST00000398019.2	+	2	460	c.135C>T	c.(133-135)ggC>ggT	p.G45G	SERPINB7_ENST00000336429.2_Silent_p.G45G|SERPINB7_ENST00000546027.1_Silent_p.G45G|SERPINB7_ENST00000540675.1_Silent_p.G45G	NM_003784.3	NP_003775.1	O75635	SPB7_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 7	45					regulation of proteolysis	cytoplasm	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(3)	27		Esophageal squamous(42;0.129)				TCCGCTTGGGCGCTCAAGATG	0.478													T	61449741	C	T	61449741	2	4	738	1	0	0	0	0	0	0	0	1	14199	755	27	1		1	SERPINB7	18	61449741	Silent	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	31803779	61449741	16627507	41	55966											
MCOLN1	57192	broad.mit.edu	37	chr19	7593548	7593548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgctccctgtccttcctcCtctgcgcccgctcactcctt	1	13	5	22	2	2	0	1	0	1	0	7	0	7	0	7	0	2	2	7	0	0	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:7593548C>T	ENST00000264079.6	+	8	1068	c.943C>T	c.(943-945)Ctc>Ttc	p.L315F		NM_020533.2	NP_065394.1	Q9GZU1	MCLN1_HUMAN	mucolipin 1	315					calcium ion transport|cellular iron ion homeostasis|transferrin transport	integral to plasma membrane|late endosome membrane|lysosomal membrane	cation channel activity|iron ion transmembrane transporter activity			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GTCCTTCCTCCTCTGCGCCCG	0.632													T	7593548	C	T	7593548	3	4	738	1	0	0	0	0	1	0	0	0	9470	681	24	2	973	2	MCOLN1	19	7593548	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		7593548	51535435	42	55967											
OR1M1	125963	broad.mit.edu	37	chr19	9204135	9204135	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgtccctggttgatttctGtctggccaccaacaccatcc	6	12	7	16	0	2	1	0	1	2	0	4	1	4	1	6	2	1	1	6	2	1	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9204135G>C	ENST00000429566.3	+	1	281	c.215G>C	c.(214-216)tGt>tCt	p.C72S		NM_001004456.1	NP_001004456.1	Q8NGA1	OR1M1_HUMAN	olfactory receptor, family 1, subfamily M, member 1	72					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(4)|large_intestine(3)|lung(17)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	32						GTTGATTTCTGTCTGGCCACC	0.547													C	9204135	G	C	9204135	3	2	738	1	0	0	0	0	1	0	0	0	11044	1377	48	4	217	4	OR1M1	19	9204135	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	1610587	9204135	49924848	43	55968											
ZNF699	374879	broad.mit.edu	37	chr19	9413161	9413161	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtaaagtccacagccacaTcctcaaagactactgagtcc	13	7	8	13	0	1	2	1	1	0	1	4	2	4	2	4	1	2	1	4	1	4	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:9413161T>A	ENST00000591998.1	-	3	296	c.68A>T	c.(67-69)gAt>gTt	p.D23V	ZNF699_ENST00000308650.3_Missense_Mutation_p.D23V|ZNF699_ENST00000588336.1_5'UTR			Q32M78	ZN699_HUMAN	zinc finger protein 699	23	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						CACAGCCACATCCTCAAAGAC	0.463													A	9413161	T	A	9413161	3	1	738	1	0	0	0	0	1	0	0	0	18202	1435	50	5	1876	5	ZNF699	19	9413161	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	209026	9413161	49715822	44	55969											
UPF1	5976	broad.mit.edu	37	chr19	18968242	18968242	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctggtggtgctgggcatccgGcccatccgcctgcaggtcca	4	8	14	15	2	0	0	0	0	0	0	3	0	3	0	5	5	2	3	5	5	0	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:18968242G>A	ENST00000262803.5	+	15	2354	c.2082G>A	c.(2080-2082)cgG>cgA	p.R694R	UPF1_ENST00000599848.1_Silent_p.R705R	NM_002911.3	NP_002902.2	Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	705					cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|RNA binding|zinc ion binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						TGGGCATCCGGCCCATCCGCC	0.647													A	18968242	G	A	18968242	2	1	738	1	0	0	0	0	0	0	0	1	17105	1190	42	2		2	UPF1	19	18968242	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	9555081	18968242	40160741	45	55970											
ZNF28	7576	broad.mit.edu	37	chr19	53303413	53303413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctttccatgtgtgatttgCgactgaaaactttctcacat	9	16	7	9	1	2	2	1	2	2	0	4	3	3	2	1	0	2	0	1	0	2	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:53303413C>T	ENST00000438150.2	-	2	2419	c.1526G>A	c.(1525-1527)cGc>cAc	p.R509H	ZNF28_ENST00000414252.2_Missense_Mutation_p.R509H|ZNF28_ENST00000360272.4_Missense_Mutation_p.R509H|ZNF28_ENST00000457749.2_Missense_Mutation_p.R562H			P17035	ZNF28_HUMAN	zinc finger protein 28	562					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GTGTGATTTGCGACTGAAAAC	0.413													T	53303413	C	T	53303413	3	4	738	1	0	0	0	0	1	0	0	0	17914	768	27	1	475	1	ZNF28	19	53303413	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	34335171	53303413	5825570	46	55971											
LILRB5	10990	broad.mit.edu	37	chr19	54754820	54754820	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcgggggagagtgagaggTaaggaacgtggtgggggtgg	9	5	24	3	2	0	2	0	1	0	2	0	5	0	3	0	8	2	1	0	8	2	1	rs429425	by1000genomes	TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:54754820T>G	ENST00000450632.1	-	13	1892	c.1815A>C	c.(1813-1815)ttA>ttC	p.L605F	LILRB5_ENST00000345866.6_Intron|LILRB5_ENST00000316219.5_Intron|LILRB5_ENST00000449561.2_Intron			O75023	LIRB5_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 5	440					cell surface receptor linked signaling pathway|defense response	integral to membrane	transmembrane receptor activity			NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_cancers(19;0.00681)|all_epithelial(19;0.00368)|all_lung(19;0.016)|Lung NSC(19;0.0296)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GAGTGAGAGGTAAGGAACGTG	0.607													G	54754820	T	G	54754820	3	3	738	1	0	0	0	0	1	0	0	0	8854	1653	57	5		5	LILRB5	19	54754820	Missense_Mutation	SNP	T	TCGA-S9-A89V-01A-11D-A36O-08	1451407	54754820	4374163	47	55972											
KIR2DL1	3802	broad.mit.edu	37	chr19	55281318	55281318	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaccatgtcgctcttggtcGtcagcatggcgtgtgttggt	4	13	14	10	3	2	0	1	0	1	0	4	0	2	0	1	3	1	4	1	3	0	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr19:55281318G>A	ENST00000336077.6	+	1	56	c.16G>A	c.(16-18)Gtc>Atc	p.V6I	KIR3DL1_ENST00000541392.1_Intron|KIR2DL3_ENST00000434419.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR2DL1_ENST00000291633.7_Missense_Mutation_p.V6I|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	6					immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GCTCTTGGTCGTCAGCATGGC	0.607											OREG0003674	type=REGULATORY REGION|Gene=KIR2DL1|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	55281318	G	A	55281318	3	1	738	1	0	0	0	0	1	0	0	0	8374	1145	40	1	18	1	KIR2DL1	19	55281318	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	526498	55281318	3847665	48	55973											
DHX35	60625	broad.mit.edu	37	chr20	37601286	37601286	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgtgggaagagcacacagAttcctcaggtgagtacatat	13	9	12	7	0	1	3	1	1	0	2	2	5	2	4	1	2	2	2	1	2	3	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:37601286A>G	ENST00000252011.3	+	3	292	c.259A>G	c.(259-261)Att>Gtt	p.I87V	DHX35_ENST00000373325.2_Missense_Mutation_p.I87V|DHX35_ENST00000373323.4_Intron	NM_021931.3	NP_068750.2	Q9H5Z1	DHX35_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 35	87	Helicase ATP-binding.					catalytic step 2 spliceosome	ATP binding|ATP-dependent helicase activity|nucleic acid binding			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|urinary_tract(2)	40		Myeloproliferative disorder(115;0.00878)				GAGCACACAGATTCCTCAGGT	0.333													G	37601286	A	G	37601286	3	3	738	1	0	0	0	0	1	0	0	0	4547	333	12	3	269	3	DHX35	20	37601286	Missense_Mutation	SNP	A	TCGA-S9-A89V-01A-11D-A36O-08		37601286	25424234	49	55974											
ZFP64	55734	broad.mit.edu	37	chr20	50701500	50701500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtggactctgctgtgcaCgcgcagggcggccgcgctgg	5	6	17	13	5	1	0	0	0	1	0	1	1	1	1	1	4	2	4	1	4	0	0			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr20:50701500C>T	ENST00000361387.2	-	9	1594	c.1534G>A	c.(1534-1536)Gtg>Atg	p.V512M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Missense_Mutation_p.V293M	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	360					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CTGCTGTGCACGCGCAGGGCG	0.657													T	50701500	C	T	50701500	3	4	738	1	0	0	0	0	1	0	0	0	17753	536	19	1	407	1	ZFP64	20	50701500	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08	13100214	50701500	12324020	50	55975											
GRIK1	2897	broad.mit.edu	37	chr21	31045398	31045398	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgagtaaaggcttggcatCtttattcccagagggcagct	9	12	11	9	0	1	2	0	1	1	1	2	2	2	2	1	3	1	5	1	3	3	6			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:31045398C>A	ENST00000399914.1	-	4	1152	c.631G>T	c.(631-633)Gat>Tat	p.D211Y	GRIK1_ENST00000327783.4_Missense_Mutation_p.D211Y|GRIK1_ENST00000389125.3_Missense_Mutation_p.D211Y|GRIK1_ENST00000472429.1_5'UTR|GRIK1_ENST00000389124.2_Missense_Mutation_p.D211Y|GRIK1_ENST00000309434.7_Missense_Mutation_p.D211Y|GRIK1_ENST00000399913.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000535441.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399909.1_Missense_Mutation_p.D211Y|GRIK1_ENST00000399907.1_Missense_Mutation_p.D211Y			P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	211					central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					L-Glutamic Acid(DB00142)|Topiramate(DB00273)	GGCTTGGCATCTTTATTCCCA	0.403													A	31045398	C	A	31045398	3	1	738	1	0	0	0	0	1	0	0	0	6828	913	32	4	2341	4	GRIK1	21	31045398	Missense_Mutation	SNP	C	TCGA-S9-A89V-01A-11D-A36O-08		31045398	17084497	51	55976											
UMODL1	89766	broad.mit.edu	37	chr21	43547321	43547321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccccgtctagcaacgcccggGaccccatcaccttcagcttc	7	7	7	20	3	3	0	2	0	1	0	4	1	3	1	6	1	3	2	6	1	2	3			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chr21:43547321G>A	ENST00000400424.2	+	19	3679	c.3283G>A	c.(3283-3285)Gac>Aac	p.D1095N	UMODL1_ENST00000400423.2_3'UTR|UMODL1_ENST00000400427.1_Missense_Mutation_p.D1223N|UMODL1_ENST00000408910.2_Missense_Mutation_p.D1167N|UMODL1_ENST00000408989.2_Missense_Mutation_p.D1295N	NM_001199528.2	NP_001186457	Q5DID0	UROL1_HUMAN	uromodulin-like 1		ZP.					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						CAACGCCCGGGACCCCATCAC	0.567													A	43547321	G	A	43547321	3	1	738	1	0	0	0	0	1	0	0	0	17082	1174	41	2	3953	2	UMODL1	21	43547321	Missense_Mutation	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	12501923	43547321	4582574	52	55977											
ATRX	546	broad.mit.edu	37	chrX	76920157	76920157	+	Frame_Shift_Del	DEL	T	T	-																															catctcctgggttttcttcaTtttgttttccagttcttttt																										TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:76920157delT	ENST00000373344.5	-	11	4134	c.3920delA	c.(3919-3921)aatfs	p.N1307fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N1269fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1307					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)	GTTTTCTTCATTTTGTTTTCC	0.373			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76920157	T	-	76920157	7	5	738	1	0	1	0	1	0	0	0	0	1213	1493	52	0	3658	0	ATRX	23	76920157	Frame_Shift_Del	DEL	T	TCGA-S9-A89V-01A-11D-A36O-08		76920157	78350403	53	55978											
CNGA2	1260	broad.mit.edu	37	chrX	150912517	150912517	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcagtatgctctgctgtcGgctggaagctgctttggcga	6	12	13	10	2	2	0	1	0	1	0	3	2	2	1	0	3	4	6	0	3	2	2			TCGA-S9-A89V-01A-11D-A36O-08	TCGA-S9-A89V-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ac7d3557-bc65-430b-af9b-591d44b0b0c1	3470b05f-208d-40c5-99db-62ca107332ee	g.chrX:150912517G>A	ENST00000329903.4	+	6	1575	c.1542G>A	c.(1540-1542)tcG>tcA	p.S514S		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	514					response to stimulus|sensory perception of smell	intracellular cyclic nucleotide activated cation channel complex	cAMP binding|intracellular cAMP activated cation channel activity			breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					CTCTGCTGTCGGCTGGAAGCT	0.512													A	150912517	G	A	150912517	2	1	738	1	0	0	0	0	0	0	0	1	3628	1103	39	1		1	CNGA2	23	150912517	Silent	SNP	G	TCGA-S9-A89V-01A-11D-A36O-08	73992360	150912517	4358043	54	55979											
HOOK1	51361	broad.mit.edu	37	chr1	60314160	60314160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaaaaagcaaatgcagcacGtacacaattagaaacataca	23	5	5	8	1	0	1	0	0	0	1	0	1	0	1	0	0	6	4	0	0	9	3	rs143143349		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:60314160G>A	ENST00000371208.3	+	11	1360	c.1103G>A	c.(1102-1104)cGt>cAt	p.R368H	HOOK1_ENST00000395561.2_Missense_Mutation_p.R326H|HOOK1_ENST00000465876.1_3'UTR	NM_015888.4	NP_056972.1	Q9UJC3	HOOK1_HUMAN	hook microtubule-tethering protein 1	368	Sufficient for interaction with microtubules.				early endosome to late endosome transport|endosome organization|endosome to lysosome transport|lysosome organization|microtubule cytoskeleton organization|multicellular organismal development|protein transport	FHF complex|microtubule	identical protein binding			biliary_tract(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|urinary_tract(1)	29	all_cancers(7;0.000129)					AATGCAGCACGTACACAATTA	0.308													A	60314160	G	A	60314160	3	1	739	1	0	0	0	0	1	0	0	0	7337	1145	40	1	1145	1	HOOK1	1	60314160	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		60314160	188936461	1	55980											
FLG	2312	broad.mit.edu	37	chr1	152275641	152275641	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtacatgactggctgtatcGcggtgagaggatccggggtg	7	10	17	7	3	0	2	0	2	0	1	2	4	1	3	1	5	1	3	1	5	2	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:152275641G>A	ENST00000368799.1	-	3	11756	c.11721C>T	c.(11719-11721)cgC>cgT	p.R3907R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3907	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TGGCTGTATCGCGGTGAGAGG	0.502									Ichthyosis				A	152275641	G	A	152275641	2	1	739	1	0	0	0	0	0	0	0	1	5971	1074	38	1		1	FLG	1	152275641	Silent	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	91961481	152275641	96974980	2	55981											
SPRR1B	6699	broad.mit.edu	37	chr1	153004933	153004933	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccatgcatccccaaaaccAaggagccctgccaccccaag	14	3	6	18	0	0	0	0	0	0	0	1	1	1	1	8	1	5	1	8	1	5	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:153004933A>G	ENST00000307098.4	+	2	177	c.112A>G	c.(112-114)Aag>Gag	p.K38E	SPRR1B_ENST00000392661.3_Missense_Mutation_p.K38E	NM_003125.2	NP_003116.2	P22528	SPR1B_HUMAN	small proline-rich protein 1B	38	6 X 8 AA approximate tandem repeats.				keratinization|peptide cross-linking	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)|ovary(2)|skin(2)	9	Lung NSC(65;1.49e-28)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CCCCAAAACCAAGGAGCCCTG	0.642													G	153004933	A	G	153004933	3	3	739	1	0	0	0	0	1	0	0	0	15192	131	5	3	114	3	SPRR1B	1	153004933	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	729292	153004933	96245688	3	55982											
HMCN1	83872	broad.mit.edu	37	chr1	185959534	185959534	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacctccacccataattacTtgggccaaagaaacccagct	13	9	5	14	0	0	1	0	0	0	1	1	1	1	1	5	1	4	1	5	1	5	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:185959534T>C	ENST00000271588.4	+	22	3565	c.3336T>C	c.(3334-3336)acT>acC	p.T1112T	HMCN1_ENST00000367492.2_Silent_p.T1112T|HMCN1_ENST00000485744.1_3'UTR	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	1112	Ig-like C2-type 8.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CCATAATTACTTGGGCCAAAG	0.478													C	185959534	T	C	185959534	2	2	739	1	0	0	0	0	0	0	0	1	7275	1596	56	3		3	HMCN1	1	185959534	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	32954601	185959534	63291087	4	55983											
HMCN1	83872	broad.mit.edu	37	chr1	186014861	186014861	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacagaatgtctctgtcCtcattagccaagctgtggaa	13	10	9	9	0	2	2	1	0	1	2	4	3	3	3	2	1	3	1	2	1	6	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:186014861C>T	ENST00000271588.4	+	41	6575	c.6346C>T	c.(6346-6348)Ctc>Ttc	p.L2116F	HMCN1_ENST00000367492.2_Missense_Mutation_p.L2116F	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2116	Ig-like C2-type 19.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						TGTCTCTGTCCTCATTAGCCA	0.433													T	186014861	C	T	186014861	3	4	739	1	0	0	0	0	1	0	0	0	7275	681	24	2	6508	2	HMCN1	1	186014861	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	55327	186014861	63235760	5	55984											
DISP1	84976	broad.mit.edu	37	chr1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgatgctttggggtttatgCggggacagctatattggtga	7	13	15	6	2	0	1	0	1	0	0	0	3	0	2	1	5	3	3	1	5	3	6	rs148231227	by1000genomes	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD.				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													T	223176649	C	T	223176649	3	4	739	1	0	0	0	0	1	0	0	0	4578	768	27	1	1936	1	DISP1	1	223176649	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	37161788	223176649	26073972	6	55985											
OR2G2	81470	broad.mit.edu	37	chr1	247752061	247752061	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggctgtctgccgtcctctcCattacactgtcttaatgcat	6	15	7	13	1	3	0	0	0	3	0	5	0	4	0	3	1	3	2	3	1	2	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752061C>A	ENST00000320065.1	+	1	400	c.400C>A	c.(400-402)Cat>Aat	p.H134N	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	134					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			CCGTCCTCTCCATTACACTGT	0.547													A	247752061	C	A	247752061	3	1	739	1	0	0	0	0	1	0	0	0	11074	594	21	4	402	4	OR2G2	1	247752061	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	24575412	247752061	1498560	7	55986											
OR2G2	81470	broad.mit.edu	37	chr1	247752350	247752350	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cattgcccacgcagtgttgaGgattaagtcagctaccagga	11	9	11	10	1	1	1	1	1	0	0	1	3	1	3	2	2	3	3	2	2	2	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr1:247752350G>T	ENST00000320065.1	+	1	689	c.689G>T	c.(688-690)aGg>aTg	p.R230M	RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	230					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GCAGTGTTGAGGATTAAGTCA	0.473													T	247752350	G	T	247752350	3	4	739	1	0	0	0	0	1	0	0	0	11074	1000	35	4	691	4	OR2G2	1	247752350	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	289	247752350	1498271	8	55987											
RAD51AP2	729475	broad.mit.edu	37	chr2	17696859	17696859	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcagctaagtcctgaaaacAttcatcattcccttcactca	13	11	4	13	0	4	1	4	1	0	0	6	1	6	1	2	0	3	2	2	0	3	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:17696859A>T	ENST00000399080.2	-	1	2847	c.2824T>A	c.(2824-2826)Tgt>Agt	p.C942S		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	942										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TCCTGAAAACATTCATCATTC	0.318													T	17696859	A	T	17696859	3	4	739	1	0	0	0	0	1	0	0	0	13075	217	8	5	667	5	RAD51AP2	2	17696859	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		17696859	225502514	9	55988											
USP34	9736	broad.mit.edu	37	chr2	61622338	61622338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attcatatcacagaatgcccCtaatatgttactttcttgag	12	15	5	9	0	3	2	2	1	1	1	3	2	3	2	2	0	2	1	2	0	5	7			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:61622338C>T	ENST00000398571.2	-	4	659	c.583G>A	c.(583-585)Ggg>Agg	p.G195R		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	195					positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			CAGAATGCCCCTAATATGTTA	0.224													T	61622338	C	T	61622338	3	4	739	1	0	0	0	0	1	0	0	0	17167	681	24	2	10365	2	USP34	2	61622338	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	43925479	61622338	181577035	10	55989											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	739	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	147490774	209113112	34086261	11	55990											
PTH2R	5746	broad.mit.edu	37	chr2	209358134	209358135	+	Frame_Shift_Ins	INS	-	-	CACA																															cagtcacaggtggcggccagINScacacgcatggtgcttatct																										TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr2:209358134_209358135insCACA	ENST00000272847.2	+	13	1616_1617	c.1403_1404insCACA	c.(1402-1407)agcacafs	p.-469fs	AC019185.4_ENST00000424628.1_RNA|PTH2R_ENST00000413482.1_3'UTR	NM_005048.2	NP_005039.1	P49190	PTH2R_HUMAN	parathyroid hormone 2 receptor							integral to plasma membrane	parathyroid hormone receptor activity	p.S468N(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(21)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	43				Epithelial(149;0.0684)|Lung(261;0.0785)|LUSC - Lung squamous cell carcinoma(261;0.0836)		GTGGCGGCCAGCACACGCATGG	0.594													CACA	209358135	-	CACA	209358134	7	5	739	1	0	1	1	0	0	0	0	0	12846	971	34	0	1453	0	PTH2R	2	209358134	Frame_Shift_Ins	INS	-	TCGA-S9-A89Z-01A-11D-A36O-08	245022	209358134	33841239	12	55991											
COLQ	8292	broad.mit.edu	37	chr3	15520493	15520493	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaccataccttccttccTggtcggccaagctcccccta	7	9	7	18	1	0	1	0	0	0	1	4	1	3	1	7	2	2	2	7	2	3	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:15520493T>C	ENST00000383785.2	-	5	509	c.384A>G	c.(382-384)ccA>ccG	p.P128P	COLQ_ENST00000383787.2_Intron|COLQ_ENST00000383781.4_Silent_p.P118P|COLQ_ENST00000435459.2_Silent_p.P118P|COLQ_ENST00000383786.5_Silent_p.P94P|COLQ_ENST00000603808.1_Silent_p.P128P|COLQ_ENST00000383788.5_Silent_p.P128P			Q9Y215	COLQ_HUMAN	collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase	128	Collagen-like 1.				acetylcholine catabolic process in synaptic cleft|asymmetric protein localization	basal lamina|cell junction|collagen|extracellular space|synaptic cleft				endometrium(2)|large_intestine(4)|lung(10)|skin(3)	19						CCTTCCTTCCTGGTCGGCCAA	0.537													C	15520493	T	C	15520493	2	2	739	1	0	0	0	0	0	0	0	1	3744	1567	55	3		3	COLQ	3	15520493	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		15520493	182501937	13	55992											
MORC1	27136	broad.mit.edu	37	chr3	108776215	108776215	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cttcagtttcaactgtgagcCcactttttcatgcattttga	8	17	6	10	0	3	2	3	2	0	0	3	2	3	2	1	0	3	2	1	0	1	6			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:108776215C>T	ENST00000232603.5	-	13	1232	c.1150G>A	c.(1150-1152)Ggc>Agc	p.G384S	MORC1_ENST00000483760.1_Missense_Mutation_p.G384S	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	384					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AACTGTGAGCCCACTTTTTCA	0.403													T	108776215	C	T	108776215	3	4	739	1	0	0	0	0	1	0	0	0	9777	623	22	2	1868	2	MORC1	3	108776215	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	93255722	108776215	89246215	14	55993											
MYLK	4638	broad.mit.edu	37	chr3	123366171	123366171	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	catgatgctaatctcctgccGgatattctctttctcttttg	6	18	6	11	1	3	1	0	1	3	0	6	2	3	2	2	1	2	1	2	1	2	6	rs142010566	by1000genomes	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr3:123366171G>A	ENST00000360772.3	-	28	4897	c.4519C>T	c.(4519-4521)Cgg>Tgg	p.R1507W	MYLK_ENST00000475616.1_Missense_Mutation_p.R1507W|MYLK_ENST00000359169.1_Missense_Mutation_p.R1507W|MYLK_ENST00000346322.5_Missense_Mutation_p.R1438W|MYLK_ENST00000354792.5_Missense_Mutation_p.R307W|MYLK_ENST00000360304.3_Missense_Mutation_p.R1507W			Q15746	MYLK_HUMAN	myosin light chain kinase	1507	Protein kinase.				aorta smooth muscle tissue morphogenesis|muscle contraction	cytosol	actin binding|ATP binding|calmodulin binding|metal ion binding|myosin light chain kinase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(37)|ovary(7)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	113		Lung NSC(201;0.0496)		GBM - Glioblastoma multiforme(114;0.0736)		ATCTCCTGCCGGATATTCTCT	0.458													A	123366171	G	A	123366171	3	1	739	1	0	0	0	0	1	0	0	0	10132	1115	39	1	1257	1	MYLK	3	123366171	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	14589956	123366171	74656259	15	55994											
UGT2A1	10941	broad.mit.edu	37	chr4	70455139	70455139	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	taccaaatttttgacaggaaAacaaacaacattgtatgacc	18	10	5	8	0	0	2	0	2	0	0	0	3	0	3	2	1	4	1	2	1	7	5			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:70455139A>T	ENST00000503640.1	-	6	1590	c.1535T>A	c.(1534-1536)tTt>tAt	p.F512Y	UGT2A2_ENST00000457664.2_Missense_Mutation_p.F521Y|UGT2A1_ENST00000512704.1_Missense_Mutation_p.F468Y|UGT2A1_ENST00000514019.1_Missense_Mutation_p.F678Y|UGT2A1_ENST00000286604.4_Missense_Mutation_p.F512Y	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	512					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TTGACAGGAAAACAAACAACA	0.353													T	70455139	A	T	70455139	3	4	739	1	0	0	0	0	1	0	0	0	17055	14	1	5	52	5	UGT2A1	4	70455139	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		70455139	120699137	16	55995											
MUC7	4589	broad.mit.edu	37	chr4	71347515	71347515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aacaaccaacttcagctcctGgccaaaataaaatttctcga	16	9	4	12	1	2	0	1	0	1	0	4	1	3	0	3	1	4	1	3	1	7	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:71347515G>T	ENST00000413702.1	+	4	1342	c.1054G>T	c.(1054-1056)Ggc>Tgc	p.G352C	MUC7_ENST00000304887.5_Missense_Mutation_p.G352C|MUC7_ENST00000456088.1_Missense_Mutation_p.G352C	NM_001145006.1	NP_001138478.1	Q8TAX7	MUC7_HUMAN	mucin 7, secreted	352						extracellular region	protein binding			central_nervous_system(1)|endometrium(3)|kidney(5)|large_intestine(2)|lung(23)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	42			Lung(101;0.211)			TTCAGCTCCTGGCCAAAATAA	0.373													T	71347515	G	T	71347515	3	4	739	1	0	0	0	0	1	0	0	0	10057	1348	47	4	1060	4	MUC7	4	71347515	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	892376	71347515	119806761	17	55996											
FAT4	79633	broad.mit.edu	37	chr4	126411235	126411235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgctgtgcattaatcagtggTatgcctacaggtgtgtccct	7	14	11	9	0	1	0	1	0	0	0	2	0	2	0	2	2	4	3	2	2	3	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:126411235T>C	ENST00000394329.3	+	17	13271	c.13258T>C	c.(13258-13260)Tat>Cat	p.Y4420H	FAT4_ENST00000335110.5_Missense_Mutation_p.Y2661H	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	4420					homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						TAATCAGTGGTATGCCTACAG	0.577													C	126411235	T	C	126411235	3	2	739	1	0	0	0	0	1	0	0	0	5741	1638	57	3	13324	3	FAT4	4	126411235	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	55063720	126411235	64743041	18	55997											
FGA	2243	broad.mit.edu	37	chr4	155505789	155505789	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctcgtcattcaggctgccGaaacctctcttgtagtcttg	6	13	8	14	2	4	0	2	0	2	0	6	1	4	0	3	1	2	2	3	1	2	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:155505789G>A	ENST00000302053.3	-	6	2166	c.2088C>T	c.(2086-2088)ttC>ttT	p.F696F		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	696	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TCAGGCTGCCGAAACCTCTCT	0.488													A	155505789	G	A	155505789	2	1	739	1	0	0	0	0	0	0	0	1	5879	1049	37	1		1	FGA	4	155505789	Silent	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	29094554	155505789	35648487	19	55998											
DDX60	55601	broad.mit.edu	37	chr4	169145434	169145434	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcaaatcatcatcaaagTtcccagacagacaaacaaat	20	6	5	10	0	3	2	3	0	0	2	4	3	4	2	1	0	2	2	1	0	5	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:169145434T>C	ENST00000393743.3	-	35	5075	c.4784A>G	c.(4783-4785)aAc>aGc	p.N1595S		NM_017631.5	NP_060101.3	Q8IY21	DDX60_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60	1595							ATP binding|ATP-dependent helicase activity|RNA binding			breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(4)|urinary_tract(4)	63		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.0485)		ATCATCAAAGTTCCCAGACAG	0.368													C	169145434	T	C	169145434	3	2	739	1	0	0	0	0	1	0	0	0	4412	1725	60	3	370	3	DDX60	4	169145434	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	13639645	169145434	22008842	20	55999											
CCDC110	256309	broad.mit.edu	37	chr4	186380117	186380117	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actttttagttgatctaatgCttccatcatttgttgcttct	7	21	5	8	0	3	1	1	1	2	0	4	1	4	1	1	0	2	4	1	0	2	9			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr4:186380117C>T	ENST00000307588.3	-	6	1699	c.1624G>A	c.(1624-1626)Gca>Aca	p.A542T	CCDC110_ENST00000393540.3_Missense_Mutation_p.A505T|CCDC110_ENST00000510617.1_Missense_Mutation_p.A542T	NM_152775.3	NP_689988.1	Q8TBZ0	CC110_HUMAN	coiled-coil domain containing 110	542						nucleus				NS(1)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(9)	30		all_lung(41;1.3e-11)|Lung NSC(41;2.25e-11)|Melanoma(20;7.86e-05)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|Prostate(90;0.0283)|Colorectal(36;0.0381)|all_hematologic(60;0.0749)		OV - Ovarian serous cystadenocarcinoma(60;1.13e-10)|BRCA - Breast invasive adenocarcinoma(30;8.01e-05)|GBM - Glioblastoma multiforme(59;0.00014)|STAD - Stomach adenocarcinoma(60;0.000777)|LUSC - Lung squamous cell carcinoma(40;0.00921)|COAD - Colon adenocarcinoma(29;0.0105)|READ - Rectum adenocarcinoma(43;0.164)		TGATCTAATGCTTCCATCATT	0.274													T	186380117	C	T	186380117	3	4	739	1	0	0	0	0	1	0	0	0	2773	797	28	2	885	2	CCDC110	4	186380117	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	17234683	186380117	4774159	21	56000											
TERT	7015	broad.mit.edu	37	chr5	1268645	1268645	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggcctcacccgtcccgccGaatccccgcaaacagcttgt	8	6	9	18	4	1	0	1	0	0	0	3	2	3	0	6	1	2	2	6	1	2	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:1268645G>A	ENST00000310581.5	-	9	2629	c.2572C>T	c.(2572-2574)Cgg>Tgg	p.R858W	TERT_ENST00000296820.5_Missense_Mutation_p.S797L|TERT_ENST00000508104.2_Missense_Mutation_p.S797L|TERT_ENST00000334602.6_Missense_Mutation_p.R858W	NM_001193376.1|NM_198253.2	NP_001180305.1|NP_937983.2	O14746	TERT_HUMAN	telomerase reverse transcriptase	858	Reverse transcriptase.				anti-apoptosis|DNA strand elongation|replicative senescence|telomere formation via telomerase|telomere maintenance via telomerase	cytoplasm|nucleolus|PML body|telomerase holoenzyme complex	protein homodimerization activity|telomeric DNA binding|telomeric RNA binding|telomeric template RNA reverse transcriptase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|kidney(4)|large_intestine(3)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	41	all_cancers(3;3.17e-16)|Lung NSC(6;8.55e-15)|all_lung(6;7.2e-14)|all_epithelial(6;1.87e-10)		Epithelial(17;0.00105)|all cancers(22;0.00178)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|Lung(60;0.185)			CCGTCCCGCCGAATCCCCGCA	0.602									TERT Mutation-Associated Haematological Disorders;Pulmonary Fibrosis, Idiopathic;Congenital Dyskeratosis				A	1268645	G	A	1268645	3	1	739	1	0	0	0	0	1	0	0	0	15864	1057	37	1	858	1	TERT	5	1268645	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		1268645	179646615	22	56001											
DNAH5	1767	broad.mit.edu	37	chr5	13758953	13758953	+	Splice_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgccatgacaaagggcagttAcctgcttttcagtcatggcc	9	11	10	11	0	2	1	2	1	0	0	2	1	2	1	3	2	3	3	3	2	2	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:13758953A>T	ENST00000265104.4	-	61	10524		c.e61+1			NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5						microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					AAGGGCAGTTACCTGCTTTTC	0.493									Kartagener syndrome				T	13758953	A	T	13758953	5	4	739	1	0	0	0	0	0	0	1	0	4643	405	14	5	3529	5	DNAH5	5	13758953	Splice_Site	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	12490308	13758953	167156307	23	56002											
CDH18	1016	broad.mit.edu	37	chr5	19839062	19839062	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaacagagacacactaggaCtggacagatgcaagatgtgc	17	5	11	8	0	0	3	0	0	0	3	0	6	0	5	0	2	3	1	0	2	4	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:19839062C>T	ENST00000507958.1	-	5	1024	c.34G>A	c.(34-36)Gtc>Atc	p.V12I	CDH18_ENST00000382275.1_Missense_Mutation_p.V12I|CDH18_ENST00000511273.1_Missense_Mutation_p.V12I|CDH18_ENST00000502796.1_Missense_Mutation_p.V12I|CDH18_ENST00000506372.1_Missense_Mutation_p.V12I|CDH18_ENST00000274170.4_Missense_Mutation_p.V12I			Q13634	CAD18_HUMAN	cadherin 18, type 2	12					adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					CACACTAGGACTGGACAGATG	0.423													T	19839062	C	T	19839062	3	4	739	1	0	0	0	0	1	0	0	0	3133	565	20	2	2382	2	CDH18	5	19839062	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	6080109	19839062	161076198	24	56003											
DHX29	54505	broad.mit.edu	37	chr5	54573002	54573002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaatatgtagaaaatttttCgctgtccacagtggcactca	13	12	8	8	1	1	1	1	0	0	1	3	2	2	1	1	1	0	3	1	1	5	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:54573002C>T	ENST00000251636.5	-	13	2366	c.2218G>A	c.(2218-2220)Gaa>Aaa	p.E740K	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	740	Helicase ATP-binding.						ATP binding|ATP-dependent helicase activity|translation initiation factor activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				GAAAATTTTTCGCTGTCCACA	0.363													T	54573002	C	T	54573002	3	4	739	1	0	0	0	0	1	0	0	0	4542	893	31	1	1951	1	DHX29	5	54573002	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	34733940	54573002	126342258	25	56004											
MAST4	375449	broad.mit.edu	37	chr5	66458525	66458525	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttgaacagatccctgtcAtcgggtgagagcctcccagg	8	9	12	12	1	1	3	1	2	0	2	4	4	3	3	3	2	3	1	3	2	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:66458525A>G	ENST00000404260.3	+	28	4193	c.3885A>G	c.(3883-3885)tcA>tcG	p.S1295S	MAST4_ENST00000403666.1_Silent_p.S1103S|MAST4_ENST00000403625.2_Silent_p.S1292S|MAST4_ENST00000261569.7_Silent_p.S1098S|MAST4_ENST00000405643.1_Silent_p.S1113S			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1295	Ser-rich.					cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		GATCCCTGTCATCGGGTGAGA	0.537													G	66458525	A	G	66458525	2	3	739	1	0	0	0	0	0	0	0	1	9402	204	8	3		3	MAST4	5	66458525	Silent	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	11885523	66458525	114456735	26	56005											
IL5	3567	broad.mit.edu	37	chr5	131879049	131879049	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattggctatcagcagagttCgatgagtagaaagcagtgcc	12	9	12	8	1	1	3	1	1	0	2	2	4	1	3	1	1	3	5	1	1	3	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:131879049C>T	ENST00000231454.1	-	1	165	c.122G>A	c.(121-123)cGa>cAa	p.R41Q		NM_000879.2	NP_000870.1	P05113	IL5_HUMAN	interleukin 5 (colony-stimulating factor, eosinophil)	41					immune response|inflammatory response|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of podosome assembly	extracellular space	cytokine activity|growth factor activity|interleukin-5 receptor binding			endometrium(1)|large_intestine(1)|stomach(1)|upper_aerodigestive_tract(1)	4		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		Pranlukast(DB01411)	CAGCAGAGTTCGATGAGTAGA	0.418													T	131879049	C	T	131879049	3	4	739	1	0	0	0	0	1	0	0	0	7757	884	31	1	298	1	IL5	5	131879049	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	65420524	131879049	49036211	27	56006											
ZNF354A	6940	broad.mit.edu	37	chr5	178152410	178152410	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gccagaaccgtctttctccaCctcccagggatcttctcctt	6	12	6	17	1	4	1	0	0	4	1	7	2	5	2	6	1	1	0	6	1	1	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr5:178152410C>A	ENST00000335815.2	-	4	420	c.223G>T	c.(223-225)Gtg>Ttg	p.V75L		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	75	KRAB.				regulation of transcription from RNA polymerase II promoter|sensory perception of sound|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		TCTTTCTCCACCTCCCAGGGA	0.507													A	178152410	C	A	178152410	3	1	739	1	0	0	0	0	1	0	0	0	17965	507	18	4	1602	4	ZNF354A	5	178152410	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	46273361	178152410	2762850	28	56007											
OR12D2	26529	broad.mit.edu	37	chr6	29364624	29364624	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgatgattgtcatctccGatcctagactccattccctt	7	16	5	13	1	3	3	1	2	2	1	7	4	6	3	4	0	0	0	4	0	1	5			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:29364624G>T	ENST00000383555.2	+	1	209	c.148G>T	c.(148-150)Gat>Tat	p.D50Y	OR5V1_ENST00000377154.1_Intron	NM_013936.3	NP_039224.2	P58182	O12D2_HUMAN	olfactory receptor, family 12, subfamily D, member 2 (gene/pseudogene)	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(20)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	31						TGTCATCTCCGATCCTAGACT	0.453													T	29364624	G	T	29364624	3	4	739	1	0	0	0	0	1	0	0	0	11007	1058	37	4	150	4	OR12D2	6	29364624	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08		29364624	141750443	29	56008											
GPR111	222611	broad.mit.edu	37	chr6	47647822	47647822	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtaggaggattcacgtttgGttcagccatttgaagacaat	11	13	11	6	1	2	2	2	1	0	1	2	4	2	4	1	3	1	3	1	3	3	5			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:47647822G>T	ENST00000398742.2	+	4	332	c.283G>T	c.(283-285)Gtt>Ttt	p.V95F	GPR111_ENST00000507065.1_Missense_Mutation_p.V95F|GPR111_ENST00000296862.1_Missense_Mutation_p.V163F			Q8IZF7	GP111_HUMAN	G protein-coupled receptor 111	163					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(2)|lung(15)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	29						TTCACGTTTGGTTCAGCCATT	0.308													T	47647822	G	T	47647822	3	4	739	1	0	0	0	0	1	0	0	0	6682	1261	44	4	297	4	GPR111	6	47647822	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	18283198	47647822	123467245	30	56009											
FUCA2	2519	broad.mit.edu	37	chr6	143818531	143818531	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaattccctcttacctctgTtgcccccagaatagctttgg	9	13	6	13	0	2	1	0	0	2	1	3	1	3	1	4	1	3	2	4	1	5	5			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:143818531T>C	ENST00000002165.6	-	6	1313	c.1258A>G	c.(1258-1260)Aca>Gca	p.T420A	RP1-20N2.6_ENST00000610068.1_RNA|RP1-20N2.6_ENST00000589563.1_RNA|FUCA2_ENST00000438118.2_3'UTR|RP1-20N2.6_ENST00000591892.1_RNA	NM_032020.4	NP_114409.2	Q9BTY2	FUCO2_HUMAN	fucosidase, alpha-L- 2, plasma						fucose metabolic process	extracellular region	alpha-L-fucosidase activity|cation binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9				OV - Ovarian serous cystadenocarcinoma(155;7.45e-06)|GBM - Glioblastoma multiforme(68;0.0142)		CTTACCTCTGTTGCCCCCAGA	0.393													C	143818531	T	C	143818531	3	2	739	1	0	0	0	0	1	0	0	0	6147	1725	60	3	153	3	FUCA2	6	143818531	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	96170709	143818531	27296536	31	56010											
OPRM1	4988	broad.mit.edu	37	chr6	154412154	154412154	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacctgctgaagatctgTgttttcatcttcgccttcat	9	15	7	10	1	4	2	2	1	2	1	5	3	4	2	2	0	2	2	2	0	3	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr6:154412154T>A	ENST00000414028.2	+	3	761	c.711T>A	c.(709-711)tgT>tgA	p.C237*	OPRM1_ENST00000518759.1_Nonsense_Mutation_p.C156*|OPRM1_ENST00000337049.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000520708.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000452687.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000434900.2_Nonsense_Mutation_p.C330*|OPRM1_ENST00000435918.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000524163.1_Nonsense_Mutation_p.C237*|OPRM1_ENST00000360422.4_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522555.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000428397.2_Nonsense_Mutation_p.C237*|OPRM1_ENST00000522236.1_Nonsense_Mutation_p.C137*|OPRM1_ENST00000330432.7_Nonsense_Mutation_p.C237*|OPRM1_ENST00000229768.5_Nonsense_Mutation_p.C237*|OPRM1_ENST00000419506.2_Nonsense_Mutation_p.C237*	NM_001145284.2	NP_001138756.1	P35372	OPRM_HUMAN	opioid receptor, mu 1	237					behavior|negative regulation of cell proliferation|sensory perception	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane	mu-opioid receptor activity|protein binding			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(15)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	33		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;9.26e-11)|BRCA - Breast invasive adenocarcinoma(81;0.0154)	Alfentanil(DB00802)|Anileridine(DB00913)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dezocine(DB01209)|Diphenoxylate(DB01081)|Fentanyl(DB00813)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Levallorphan(DB00504)|Levomethadyl Acetate(DB01227)|Levorphanol(DB00854)|Loperamide(DB00836)|Methadone(DB00333)|Methadyl Acetate(DB01433)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tramadol(DB00193)	TGAAGATCTGTGTTTTCATCT	0.438													A	154412154	T	A	154412154	4	1	739	1	0	0	0	0	0	1	0	0	10963	1702	59	5	1055	5	OPRM1	6	154412154	Nonsense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	10593623	154412154	16702913	32	56011											
SDK1	221935	broad.mit.edu	37	chr7	4091419	4091419	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcaccacccctggggaCgggcctcccagcacacctca	7	6	9	19	1	2	0	2	0	0	0	3	1	3	1	6	3	2	2	6	3	0	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:4091419C>T	ENST00000404826.2	+	19	3007	c.2868C>T	c.(2866-2868)gaC>gaT	p.D956D	SDK1_ENST00000389531.3_Silent_p.D956D	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	956	Fibronectin type-III 3.				cell adhesion	integral to membrane		p.D956D(1)		NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCCTGGGGACGGGCCTCCCA	0.527													T	4091419	C	T	4091419	2	4	739	1	0	0	0	0	0	0	0	1	14061	535	19	1		1	SDK1	7	4091419	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		4091419	155047244	33	56012											
DDC	1644	broad.mit.edu	37	chr7	50611777	50611777	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccttcggaattcacttgCgttcatggtgtctgggctct	4	16	10	11	2	5	0	2	0	3	0	7	1	5	1	1	3	1	2	1	3	1	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:50611777C>T	ENST00000444124.2	-	2	207	c.7G>A	c.(7-9)Gca>Aca	p.A3T	DDC_ENST00000426377.1_Missense_Mutation_p.A3T|DDC_ENST00000380984.4_Missense_Mutation_p.A3T|DDC_ENST00000357936.5_Missense_Mutation_p.A3T|DDC_ENST00000431062.1_Missense_Mutation_p.A3T	NM_001082971.1	NP_001076440	P20711	DDC_HUMAN	dopa decarboxylase (aromatic L-amino acid decarboxylase)	3					cellular amino acid metabolic process|hormone biosynthetic process|neurotransmitter secretion	cytosol	aromatic-L-amino-acid decarboxylase activity|protein binding|pyridoxal phosphate binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(2)|lung(23)|ovary(4)|skin(2)|stomach(1)	40	Glioma(55;0.08)|all_neural(89;0.245)				Amantadine(DB00915)|Carbidopa(DB00190)|Flupenthixol(DB00875)|L-Tryptophan(DB00150)|Levodopa(DB01235)|Pimozide(DB01100)|Pyridoxal Phosphate(DB00114)|Remoxipride(DB00409)	AATTCACTTGCGTTCATGGTG	0.512													T	50611777	C	T	50611777	3	4	739	1	0	0	0	0	1	0	0	0	4359	768	27	1	1487	1	DDC	7	50611777	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	46520358	50611777	108526886	34	56013											
TRIM56	81844	broad.mit.edu	37	chr7	100730605	100730605	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgcagcatggtttcccaCgggtcctcgccctccctcct	3	10	9	19	2	0	0	0	0	0	0	5	0	4	0	6	2	2	3	6	2	0	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:100730605C>T	ENST00000306085.6	+	3	309	c.12C>T	c.(10-12)caC>caT	p.H4H		NM_030961.1	NP_112223.1	Q9BRZ2	TRI56_HUMAN	tripartite motif containing 56	4					defense response to virus|interferon-beta production|protein K63-linked ubiquitination|response to type I interferon	cytoplasm	ubiquitin-protein ligase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	Lung NSC(181;0.136)|all_lung(186;0.182)					TGGTTTCCCACGGGTCCTCGC	0.637													T	100730605	C	T	100730605	2	4	739	1	0	0	0	0	0	0	0	1	16631	535	19	1		1	TRIM56	7	100730605	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	50118828	100730605	58408058	35	56014											
CPA4	51200	broad.mit.edu	37	chr7	129962408	129962408	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acatttgagttgagagatacCgggacctatggcttcctcct	9	12	10	10	1	0	3	0	2	0	1	2	5	2	4	4	2	1	2	4	2	2	5	rs143728099	byFrequency	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:129962408C>T	ENST00000222482.4	+	11	1186	c.1158C>T	c.(1156-1158)acC>acT	p.T386T	CPA4_ENST00000493259.1_Silent_p.T282T|CPA4_ENST00000445470.2_Silent_p.T353T	NM_016352.3	NP_057436.2	Q9UI42	CBPA4_HUMAN	carboxypeptidase A4	386					histone acetylation|proteolysis	extracellular region	metallocarboxypeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Melanoma(18;0.0435)					TGAGAGATACCGGGACCTATG	0.537													T	129962408	C	T	129962408	2	4	739	1	0	0	0	0	0	0	0	1	3823	639	23	1		1	CPA4	7	129962408	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	29231803	129962408	29176255	36	56015											
NCAPG2	54892	broad.mit.edu	37	chr7	158443658	158443658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagaggcctctgaacagaatAaagcagctacaagaaaacac	20	4	8	9	0	1	4	0	1	1	3	1	4	1	4	1	1	5	2	1	1	9	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr7:158443658A>G	ENST00000409339.3	-	24	3054	c.2941T>C	c.(2941-2943)Tat>Cat	p.Y981H	NCAPG2_ENST00000449727.2_Missense_Mutation_p.Y981H|NCAPG2_ENST00000541468.1_Intron|NCAPG2_ENST00000275830.10_Intron|NCAPG2_ENST00000356309.3_Missense_Mutation_p.Y981H|NCAPG2_ENST00000409423.1_Missense_Mutation_p.Y981H	NM_001281933.1	NP_001268862.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	981					cell division|chromosome condensation|mitosis	nucleus	methylated histone residue binding			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		TGAACAGAATAAAGCAGCTAC	0.393													G	158443658	A	G	158443658	3	3	739	1	0	0	0	0	1	0	0	0	10284	362	13	3	510	3	NCAPG2	7	158443658	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	28481250	158443658	695005	37	56016											
POLB	5423	broad.mit.edu	37	chr8	42229122	42229122	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtggatagtgaaaaagacAtctttgattacatccagtgg	14	11	10	6	0	1	3	0	2	1	1	2	4	2	4	1	2	1	0	1	2	4	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:42229122A>G	ENST00000265421.4	+	14	1125	c.955A>G	c.(955-957)Atc>Gtc	p.I319V	POLB_ENST00000521492.1_Missense_Mutation_p.I38V|POLB_ENST00000538005.1_Missense_Mutation_p.I165V	NM_002690.2	NP_002681.1	P06746	DPOLB_HUMAN	polymerase (DNA directed), beta	319					DNA-dependent DNA replication	cytoplasm|nucleoplasm|spindle microtubule	DNA-(apurinic or apyrimidinic site) lyase activity|DNA-directed DNA polymerase activity|enzyme binding|metal ion binding|microtubule binding			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|liver(1)|lung(5)|ovary(1)	16	all_cancers(6;1.42e-24)|all_epithelial(6;1.02e-25)|all_lung(13;2.58e-12)|Lung NSC(13;4.24e-11)|Ovarian(28;0.00769)|Prostate(17;0.0119)|Colorectal(14;0.1)|Lung SC(25;0.211)	all_lung(54;0.00671)|Lung NSC(58;0.0184)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	BRCA - Breast invasive adenocarcinoma(8;3.18e-11)|Lung(22;0.00467)|OV - Ovarian serous cystadenocarcinoma(14;0.00523)|LUSC - Lung squamous cell carcinoma(45;0.024)		Cytarabine(DB00987)	TGAAAAAGACATCTTTGATTA	0.438								DNA polymerases (catalytic subunits)					G	42229122	A	G	42229122	3	3	739	1	0	0	0	0	1	0	0	0	12266	217	8	3	1009	3	POLB	8	42229122	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		42229122	104134900	38	56017											
UBR5	51366	broad.mit.edu	37	chr8	103335639	103335639	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catattccaaactgactccaTtaagacaccaactttaggaa	16	10	4	11	0	0	2	0	1	0	1	2	3	2	3	3	1	2	0	3	1	6	5			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr8:103335639T>C	ENST00000520539.1	-	14	2290	c.1684A>G	c.(1684-1686)Atg>Gtg	p.M562V	UBR5_ENST00000220959.4_Missense_Mutation_p.M562V|UBR5_ENST00000521922.1_Missense_Mutation_p.M556V	NM_001282873.1|NM_015902.5	NP_001269802.1|NP_056986.2	O95071	UBR5_HUMAN	ubiquitin protein ligase E3 component n-recognin 5	562					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)			ACTGACTCCATTAAGACACCA	0.363													C	103335639	T	C	103335639	3	2	739	1	0	0	0	0	1	0	0	0	17007	1493	52	3	6899	3	UBR5	8	103335639	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	61106517	103335639	43028383	39	56018											
RC3H2	54542	broad.mit.edu	37	chr9	125652610	125652610	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggccctaaaaactggcaTcctcgagccctgacagcggc	9	6	10	16	2	0	1	0	1	0	0	2	2	1	1	4	3	3	1	4	3	3	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:125652610T>A	ENST00000373670.1	-	3	1164	c.564A>T	c.(562-564)ggA>ggT	p.G188G	RC3H2_ENST00000478216.1_5'UTR|RC3H2_ENST00000373665.2_Silent_p.G188G|RC3H2_ENST00000357244.2_Silent_p.G188G|RC3H2_ENST00000423239.2_Silent_p.G188G|RC3H2_ENST00000335387.5_Silent_p.G188G|RC3H2_ENST00000471874.2_Silent_p.G188G			Q9HBD1	RC3H2_HUMAN	ring finger and CCCH-type domains 2	188						cell surface|endomembrane system|membrane|membrane fraction|perinuclear region of cytoplasm	DNA binding|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(6)|large_intestine(4)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						AAAACTGGCATCCTCGAGCCC	0.473													A	125652610	T	A	125652610	2	1	739	1	0	0	0	0	0	0	0	1	13255	1422	50	5		5	RC3H2	9	125652610	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		125652610	15560821	40	56019											
PRRX2	51450	broad.mit.edu	37	chr9	132482974	132482974	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcctacagccaggaggccGccatcgagcagcccgtggct	8	5	13	15	3	0	0	0	0	0	0	2	2	1	1	5	3	4	2	5	3	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr9:132482974G>A	ENST00000372469.4	+	3	774	c.547G>A	c.(547-549)Gcc>Acc	p.A183T		NM_016307.3	NP_057391.1	Q99811	PRRX2_HUMAN	paired related homeobox 2	183						nuclear chromosome	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|pancreas(1)	3		Ovarian(14;0.00556)				CCAGGAGGCCGCCATCGAGCA	0.647													A	132482974	G	A	132482974	3	1	739	1	0	0	0	0	1	0	0	0	12698	1087	38	1	557	1	PRRX2	9	132482974	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	6830364	132482974	8730457	41	56020											
ANKRD30A	91074	broad.mit.edu	37	chr10	37431045	37431045	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaaacatctgagaaatttaCgtgggcagcaaaaggaagac	18	6	11	6	1	1	3	0	1	1	3	1	5	1	4	0	2	3	2	0	2	6	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:37431045C>T	ENST00000374660.1	+	7	1151	c.1052C>T	c.(1051-1053)aCg>aTg	p.T351M	ANKRD30A_ENST00000602533.1_Missense_Mutation_p.T351M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.T351M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	407						nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GAGAAATTTACGTGGGCAGCA	0.423													T	37431045	C	T	37431045	3	4	739	1	0	0	0	0	1	0	0	0	658	536	19	1	1078	1	ANKRD30A	10	37431045	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		37431045	98103702	42	56021											
OPN4	94233	broad.mit.edu	37	chr10	88418319	88418319	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gacggccatcgccctggaccGctacctggtaatcacacgcc	8	6	10	17	4	1	0	1	0	0	0	2	2	1	1	5	3	1	2	5	3	2	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:88418319G>A	ENST00000372071.2	+	5	763	c.536G>A	c.(535-537)cGc>cAc	p.R179H	OPN4_ENST00000241891.5_Missense_Mutation_p.R168H	NM_001030015.2	NP_001025186.1	Q9UHM6	OPN4_HUMAN	opsin 4	168					phototransduction|protein-chromophore linkage|regulation of circadian rhythm|rhythmic process|visual perception	integral to membrane|plasma membrane	11-cis retinal binding|G-protein coupled photoreceptor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|liver(2)|lung(5)|ovary(3)	18						GCCCTGGACCGCTACCTGGTA	0.617													A	88418319	G	A	88418319	3	1	739	1	0	0	0	0	1	0	0	0	10958	1087	38	1	554	1	OPN4	10	88418319	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	50987274	88418319	47116428	43	56022											
NT5C2	22978	broad.mit.edu	37	chr10	104934622	104934622	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaaaatacttaccgatgatAggcttctcgacgatactttt	13	13	6	9	3	1	1	0	1	1	0	2	4	1	1	1	1	3	1	1	1	6	7			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr10:104934622A>T	ENST00000343289.5	-	2	181	c.94T>A	c.(94-96)Tat>Aat	p.Y32N	NT5C2_ENST00000470299.1_Missense_Mutation_p.Y32N|NT5C2_ENST00000404739.3_Missense_Mutation_p.Y32N|NT5C2_ENST00000369857.4_Intron	NM_001134373.2|NM_012229.4	NP_001127845.1|NP_036361.1	P49902	5NTC_HUMAN	5'-nucleotidase, cytosolic II	32					purine base metabolic process|purine nucleotide catabolic process	cytosol	5'-nucleotidase activity|metal ion binding|nucleotide binding|protein binding			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|urinary_tract(1)	16		all_hematologic(284;0.176)|Colorectal(252;0.178)		Epithelial(162;1.33e-08)|all cancers(201;1.04e-07)|BRCA - Breast invasive adenocarcinoma(275;0.159)	Adenosine triphosphate(DB00171)|Ribavirin(DB00811)	TACCGATGATAGGCTTCTCGA	0.383													T	104934622	A	T	104934622	3	4	739	1	0	0	0	0	1	0	0	0	10763	420	15	5	1659	5	NT5C2	10	104934622	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	16516303	104934622	30600125	44	56023											
OR4C15	81309	broad.mit.edu	37	chr11	55322062	55322062	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acattgcaactgttgggggcAacatgctaattgtagtaacc	12	11	10	8	0	0	0	0	0	0	0	0	0	0	0	1	2	5	6	1	2	5	6			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:55322062A>G	ENST00000314644.2	+	1	280	c.280A>G	c.(280-282)Aac>Gac	p.N94D		NM_001001920.1	NP_001001920.1	Q8NGM1	OR4CF_HUMAN	olfactory receptor, family 4, subfamily C, member 15	40					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(31)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(5)	56						TGTTGGGGGCAACATGCTAAT	0.438										HNSCC(20;0.049)			G	55322062	A	G	55322062	3	3	739	1	0	0	0	0	1	0	0	0	11124	130	5	3	282	3	OR4C15	11	55322062	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08		55322062	79684454	45	56024											
MTNR1B	4544	broad.mit.edu	37	chr11	92714787	92714787	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctctgtcttcaatatcactgCcatcgccattaaccgctact	9	13	4	15	2	4	0	2	0	2	0	5	0	4	0	3	0	3	1	3	0	4	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:92714787C>T	ENST00000257068.2	+	2	404	c.398C>T	c.(397-399)gCc>gTc	p.A133V		NM_005959.3	NP_005950.1	P49286	MTR1B_HUMAN	melatonin receptor 1B	133					G-protein signaling, coupled to cyclic nucleotide second messenger|glucose homeostasis|regulation of insulin secretion|synaptic transmission	integral to plasma membrane	melatonin receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(19)|ovary(1)|prostate(2)|urinary_tract(1)	33		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)			Ramelteon(DB00980)	AATATCACTGCCATCGCCATT	0.597													T	92714787	C	T	92714787	3	4	739	1	0	0	0	0	1	0	0	0	10028	739	26	2	404	2	MTNR1B	11	92714787	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	37392725	92714787	42291729	46	56025											
DSCAML1	57453	broad.mit.edu	37	chr11	117310638	117310638	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacggtgcccccaaaggagaTgatctttgctggggctacag	9	8	13	11	1	1	2	0	1	1	1	1	3	1	2	2	4	3	2	2	4	2	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:117310638T>C	ENST00000321322.6	-	22	4058	c.4057A>G	c.(4057-4059)Atc>Gtc	p.I1353V	DSCAML1_ENST00000527706.1_Missense_Mutation_p.I1083V	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1293	Ig-like C2-type 10.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		CCAAAGGAGATGATCTTTGCT	0.557													C	117310638	T	C	117310638	3	2	739	1	0	0	0	0	1	0	0	0	4808	1464	51	3	2332	3	DSCAML1	11	117310638	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	24595851	117310638	17695878	47	56026											
CHEK1	1111	broad.mit.edu	37	chr11	125497608	125497608	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atattaagaaagagatctgtAtcaataaaatgctaaatcat	20	12	5	4	0	3	2	2	0	1	2	3	3	3	2	0	0	1	2	0	0	9	5			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr11:125497608A>G	ENST00000534070.1	+	3	427	c.172A>G	c.(172-174)Atc>Gtc	p.I58V	CHEK1_ENST00000278916.3_Missense_Mutation_p.I58V|CHEK1_ENST00000427383.2_Intron|CHEK1_ENST00000438015.1_Missense_Mutation_p.I58V|CHEK1_ENST00000532449.1_Intron|CHEK1_ENST00000524737.1_Missense_Mutation_p.I58V|CHEK1_ENST00000428830.2_Missense_Mutation_p.I58V|CHEK1_ENST00000544373.1_Missense_Mutation_p.I58V	NM_001274.5	NP_001265.2	O14757	CHK1_HUMAN	checkpoint kinase 1	58	Protein kinase.				cellular response to mechanical stimulus|DNA repair|DNA replication|gamete generation|negative regulation of cell proliferation|reciprocal meiotic recombination|regulation of cyclin-dependent protein kinase activity|replicative senescence	condensed nuclear chromosome|microtubule organizing center|nucleoplasm	ATP binding|protein binding|protein serine/threonine kinase activity			central_nervous_system(3)|endometrium(3)|large_intestine(2)|lung(16)|skin(1)|upper_aerodigestive_tract(1)	26	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0748)		AGAGATCTGTATCAATAAAAT	0.363								Other conserved DNA damage response genes					G	125497608	A	G	125497608	3	3	739	1	0	0	0	0	1	0	0	0	3364	449	16	3	178	3	CHEK1	11	125497608	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	8186970	125497608	9508908	48	56027											
GYS2	2998	broad.mit.edu	37	chr12	21713428	21713428	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatgtcacttttatgcatcTgatgaggaattagaaaacac	14	13	8	6	0	2	4	1	3	1	1	2	5	2	5	0	1	2	1	0	1	5	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:21713428T>C	ENST00000261195.2	-	8	1317		c.e8-2			NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)						glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						TTTATGCATCTGATGAGGAAT	0.328													C	21713428	T	C	21713428	5	2	739	1	0	0	0	0	0	0	1	0	6968	1594	55	3	1086	3	GYS2	12	21713428	Splice_Site	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		21713428	112138467	49	56028											
DNAH10	196385	broad.mit.edu	37	chr12	124288309	124288309	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacatttcttccaggctgAcattaatagaggccataaat	14	12	7	8	0	1	3	0	2	1	1	2	3	2	3	2	2	0	1	2	2	4	5			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr12:124288309A>G	ENST00000409039.3	+	16	2387	c.2362A>G	c.(2362-2364)Aca>Gca	p.T788A		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	788	Stem (By similarity).				microtubule-based movement	cilium axoneme|cytoplasm|dynein complex|microtubule	ATP binding|ATPase activity|microtubule motor activity			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		TTCCAGGCTGACATTAATAGA	0.413													G	124288309	A	G	124288309	3	3	739	1	0	0	0	0	1	0	0	0	4637	275	10	3	2424	3	DNAH10	12	124288309	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	102574881	124288309	9563586	50	56029											
FLT3	2322	broad.mit.edu	37	chr13	28636085	28636085	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatgttccctggggcgTcgaccagcacttgcagtgtg	8	9	14	10	2	0	0	0	0	0	0	2	2	1	1	2	3	2	3	2	3	1	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr13:28636085T>C	ENST00000380982.4	-	3	368	c.287A>G	c.(286-288)gAc>gGc	p.D96G	FLT3_ENST00000537084.1_Missense_Mutation_p.D96G|FLT3_ENST00000241453.7_Missense_Mutation_p.D96G			P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	96					positive regulation of cell proliferation	integral to plasma membrane	ATP binding|vascular endothelial growth factor receptor activity			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Sorafenib(DB00398)|Sunitinib(DB01268)	CCCTGGGGCGTCGACCAGCAC	0.522			"Mis, O"		"AML, ALL"								C	28636085	T	C	28636085	3	2	739	1	0	0	0	0	1	0	0	0	5991	1667	58	3	2782	3	FLT3	13	28636085	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		28636085	86533793	51	56030											
ADAM20	8748	broad.mit.edu	37	chr14	70990039	70990039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcattgatgggatgtcccaTtgcaccactctggaaggtca	9	10	12	10	0	2	1	1	1	1	0	3	3	3	3	2	4	1	2	2	4	1	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:70990039T>C	ENST00000256389.3	-	2	1830	c.1586A>G	c.(1585-1587)aAt>aGt	p.N529S	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	479	Cys-rich.				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		GGATGTCCCATTGCACCACTC	0.433													C	70990039	T	C	70990039	3	2	739	1	0	0	0	0	1	0	0	0	242	1493	52	3	748	3	ADAM20	14	70990039	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		70990039	36359501	52	56031											
DYNC1H1	1778	broad.mit.edu	37	chr14	102431051	102431051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtcggagcccgggggcggcgGcggcgaggacggctcggccg	3	2	23	13	9	0	0	0	0	0	0	2	3	0	2	2	9	1	1	2	9	0	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr14:102431051G>C	ENST00000360184.4	+	1	187	c.23G>C	c.(22-24)gGc>gCc	p.G8A		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	8					cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GGGGGCGGCGGCGGCGAGGAC	0.682													C	102431051	G	C	102431051	3	2	739	1	0	0	0	0	1	0	0	0	4880	1203	42	4	25	4	DYNC1H1	14	102431051	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	31441012	102431051	4918489	53	56032											
ACSM2A	123876	broad.mit.edu	37	chr16	20476907	20476907	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggaaggaattaatgtggaaTttcagagaactgagtgaaaa	17	9	13	2	0	1	3	1	2	0	1	1	7	1	6	0	3	1	0	0	3	7	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20476907T>G	ENST00000573854.1	+	3	360	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2A_ENST00000417235.2_Missense_Mutation_p.N3K|ACSM2A_ENST00000424070.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000575690.1_Missense_Mutation_p.N82K|ACSM2A_ENST00000396104.2_Missense_Mutation_p.N82K|ACSM2A_ENST00000219054.6_Missense_Mutation_p.N82K|ACSM2A_ENST00000575558.1_3'UTR|ACSM2A_ENST00000536134.1_De_novo_Start_InFrame	NM_001010845.2	NP_001010845	Q08AH3	ACS2A_HUMAN	acyl-CoA synthetase medium-chain family member 2A	82					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|metal ion binding			breast(2)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(34)|ovary(1)|skin(6)|stomach(1)	51						TAATGTGGAATTTCAGAGAAC	0.597													G	20476907	T	G	20476907	3	3	739	1	0	0	0	0	1	0	0	0	183	1490	52	5	252	5	ACSM2A	16	20476907	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		20476907	69877846	54	56033											
ACSM2B	348158	broad.mit.edu	37	chr16	20570701	20570701	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttcactcagttctctgaaAttccacattaattccttccc	9	17	2	13	0	3	1	2	1	1	0	7	1	6	1	3	0	0	1	3	0	2	7			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20570701A>C	ENST00000329697.6	-	3	414	c.246T>G	c.(244-246)aaT>aaG	p.N82K	ACSM2B_ENST00000565322.1_Missense_Mutation_p.N3K|ACSM2B_ENST00000414188.2_Missense_Mutation_p.N82K|ACSM2B_ENST00000565232.1_Missense_Mutation_p.N82K|ACSM2B_ENST00000567001.1_Missense_Mutation_p.N82K	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	82					fatty acid metabolic process|xenobiotic metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|CoA-ligase activity|metal ion binding			breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						GTTCTCTGAAATTCCACATTA	0.577													C	20570701	A	C	20570701	3	2	739	1	0	0	0	0	1	0	0	0	184	98	4	5	1535	5	ACSM2B	16	20570701	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	93794	20570701	69784052	55	56034											
DCUN1D3	123879	broad.mit.edu	37	chr16	20871683	20871683	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgctttgcagccatcaaaaAactccttcctgcaacagaaa	14	10	5	12	0	1	1	1	0	0	1	3	1	3	1	3	0	6	3	3	0	5	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr16:20871683A>C	ENST00000324344.4	-	3	725	c.440T>G	c.(439-441)tTt>tGt	p.F147C	DCUN1D3_ENST00000563934.1_Missense_Mutation_p.F147C|ERI2_ENST00000564349.1_Intron	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3		DCUN1.				negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|positive regulation of apoptosis|response to gamma radiation|response to UV-C	perinuclear region of cytoplasm				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GCCATCAAAAAACTCCTTCCT	0.393													C	20871683	A	C	20871683	3	2	739	1	0	0	0	0	1	0	0	0	4349	14	1	5	478	5	DCUN1D3	16	20871683	Missense_Mutation	SNP	A	TCGA-S9-A89Z-01A-11D-A36O-08	300982	20871683	69483070	56	56035											
TP53	7157	broad.mit.edu	37	chr17	7577049	7577049	+	Frame_Shift_Del	DEL	G	G	-																															gctccctgggggcagctcgtGgtgaggctcccctttcttgc																										TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577049delG	ENST00000420246.2	-	8	1021	c.889delC	c.(889-891)cacfs	p.H297fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.H297fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Frame_Shift_Del_p.H297fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.H297fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	297	Interaction with HIPK1 (By similarity).		H -> D (in a sporadic cancer; somatic mutation).|H -> N (in a sporadic cancer; somatic mutation).|H -> P (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.K291fs*48(8)|p.0?(8)|p.H297Y(5)|p.?(2)|p.H297N(1)|p.L265_K305del41(1)|p.G293fs*1(1)|p.H296_S303delHHELPPGS(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)		GGCAGCTCGTGGTGAGGCTCC	0.562		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)			-	7577049	G	-	7577049	7	5	739	1	0	1	0	1	0	0	0	0	16482	1348	47	0	397	0	TP53	17	7577049	Frame_Shift_Del	DEL	G	TCGA-S9-A89Z-01A-11D-A36O-08		7577049	73618161	57	56036											
TP53	7157	broad.mit.edu	37	chr17	7577120	7577120	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaggacaggcacaaacaCgcacctcaaagctgttccgt	12	6	8	15	2	1	0	1	0	0	0	3	1	3	1	3	2	2	4	3	2	2	1	rs28934576	by1000genomes	TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:7577120C>T	ENST00000420246.2	-	8	950	c.818G>A	c.(817-819)cGt>cAt	p.R273H	TP53_ENST00000445888.2_Missense_Mutation_p.R273H|TP53_ENST00000359597.4_Missense_Mutation_p.R273H|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273H|TP53_ENST00000269305.4_Missense_Mutation_p.R273H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273H(521)|p.R273L(93)|p.R273P(32)|p.0?(8)|p.?(2)|p.R273fs*32(2)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.R273S(1)|p.E258fs*71(1)|p.R273fs*72(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.R273fs*33(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGCACAAACACGCACCTCAAA	0.542	R273H(EN_ENDOMETRIUM)|R273H(HEC59_ENDOMETRIUM)|R273H(HEC6_ENDOMETRIUM)|R273H(HT29_LARGE_INTESTINE)|R273H(HT_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(MDAMB468_BREAST)|R273H(MOLT13_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(NCIH1155_LUNG)|R273H(NCIH1793_LUNG)|R273H(NCIH1975_LUNG)|R273H(NCIH2405_LUNG)|R273H(NCIH508_LARGE_INTESTINE)|R273H(OC314_OVARY)|R273H(PANC1_PANCREAS)|R273H(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SKMEL30_SKIN)|R273H(SNB19_CENTRAL_NERVOUS_SYSTEM)|R273H(SUDHL1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SUIT2_PANCREAS)|R273H(SUPT1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273H(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273H(SW480_LARGE_INTESTINE)|R273H(SW620_LARGE_INTESTINE)|R273H(U251MG_CENTRAL_NERVOUS_SYSTEM)	111	"Mis, N, F"		"breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"	"breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)			T	7577120	C	T	7577120	3	4	739	1	0	0	0	0	1	0	0	0	16482	536	19	1	468	1	TP53	17	7577120	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	71	7577120	73618090	58	56037											
DHRS7C	201140	broad.mit.edu	37	chr17	9683322	9683322	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacacagctgatgtctgagaGgtccaacaggaccagctttg	11	8	12	10	0	1	2	0	2	1	1	2	5	2	3	2	2	3	2	2	2	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:9683322G>C	ENST00000330255.5	-	3	313	c.301C>G	c.(301-303)Ctc>Gtc	p.L101V	DHRS7C_ENST00000571134.1_Missense_Mutation_p.L100V	NM_001105571.2|NM_001220493.1	NP_001099041.1|NP_001207422.1	A6NNS2	DRS7C_HUMAN	dehydrogenase/reductase (SDR family) member 7C							extracellular region	binding|oxidoreductase activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)	15						ATGTCTGAGAGGTCCAACAGG	0.527													C	9683322	G	C	9683322	3	2	739	1	0	0	0	0	1	0	0	0	4536	1000	35	4	653	4	DHRS7C	17	9683322	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	2106202	9683322	71511888	59	56038											
DNAH17	8632	broad.mit.edu	37	chr17	76497400	76497400	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgatgccggagctgggcctgCcaggtgaaggcctgagaact	8	6	16	11	2	0	2	0	2	0	1	0	5	0	3	4	4	4	1	4	4	2	0			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr17:76497400C>T	ENST00000389840.5	-	35	5431	c.5307G>A	c.(5305-5307)tgG>tgA	p.W1769*	DNAH17-AS1_ENST00000598378.1_3'UTR|DNAH17_ENST00000585328.1_Nonsense_Mutation_p.W1778*					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			GCTGGGCCTGCCAGGTGAAGG	0.567													T	76497400	C	T	76497400	4	4	739	1	0	0	0	0	0	1	0	0	4640	740	26	2	8227	2	DNAH17	17	76497400	Nonsense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	66814078	76497400	4697810	60	56039											
DSG4	147409	broad.mit.edu	37	chr18	28986302	28986302	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcttggaccagcagggatTggcatgatggttctgggcat	7	11	16	7	0	2	1	0	1	2	0	2	3	2	3	1	6	1	4	1	6	0	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr18:28986302T>A	ENST00000359747.4	+	12	1928	c.1899T>A	c.(1897-1899)atT>atA	p.I633I	DSG4_ENST00000308128.4_Silent_p.I633I|RP11-534N16.1_ENST00000578477.1_RNA|RP11-534N16.1_ENST00000581856.1_RNA	NM_001134453.1	NP_001127925.1	Q86SJ6	DSG4_HUMAN	desmoglein 4	633					homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			NS(1)|breast(1)|central_nervous_system(6)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(11)|liver(2)|lung(35)|ovary(4)|skin(1)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(10;0.00504)			CAGCAGGGATTGGCATGATGG	0.473													A	28986302	T	A	28986302	2	1	739	1	0	0	0	0	0	0	0	1	4818	1800	63	5		5	DSG4	18	28986302	Silent	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		28986302	49090946	61	56040											
MUC16	94025	broad.mit.edu	37	chr19	9088171	9088171	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtccaagggaaccagggtgCtttttcctatggcaccactt	8	12	10	11	0	0	0	0	0	0	0	2	1	2	1	4	3	2	2	4	3	3	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:9088171C>A	ENST00000397910.4	-	1	3847	c.3644G>T	c.(3643-3645)aGc>aTc	p.S1215I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1215	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						AACCAGGGTGCTTTTTCCTAT	0.493													A	9088171	C	A	9088171	3	1	739	1	0	0	0	0	1	0	0	0	10049	797	28	4	40215	4	MUC16	19	9088171	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08		9088171	50040812	62	56041											
OR10H2	26538	broad.mit.edu	37	chr19	15839146	15839146	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcgccttcctggcctgtgCcagtcagatgttcttctcct	4	14	8	15	1	3	1	1	0	2	1	6	1	4	1	5	1	1	1	5	1	0	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:15839146C>T	ENST00000305899.3	+	1	313	c.293C>T	c.(292-294)gCc>gTc	p.A98V		NM_013939.2	NP_039227.1	O60403	O10H2_HUMAN	olfactory receptor, family 10, subfamily H, member 2	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.A98D(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|skin(3)|stomach(1)	27	all_hematologic(1;0.0517)|Acute lymphoblastic leukemia(2;0.074)					CTGGCCTGTGCCAGTCAGATG	0.632													T	15839146	C	T	15839146	3	4	739	1	0	0	0	0	1	0	0	0	10982	739	26	2	295	2	OR10H2	19	15839146	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	6750975	15839146	43289837	63	56042											
HPN	3249	broad.mit.edu	37	chr19	35556561	35556561	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgttctgtgctggctacccCgagggtggcattgatgcctg	5	12	14	10	1	1	1	0	1	1	0	1	2	1	1	3	3	3	4	3	3	1	3			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:35556561C>T	ENST00000262626.2	+	11	1851	c.1026C>T	c.(1024-1026)ccC>ccT	p.P342P	HPN_ENST00000597419.1_Silent_p.P184P|HPN_ENST00000392226.1_Silent_p.P342P|HPN-AS1_ENST00000392227.2_RNA	NM_182983.2	NP_892028.1	P05981	HEPS_HUMAN	hepsin	342	Peptidase S1.				cell growth|proteolysis	cytoplasm|integral to plasma membrane	scavenger receptor activity|serine-type endopeptidase activity			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|upper_aerodigestive_tract(2)	19	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)		Coagulation factor VIIa(DB00036)	CTGGCTACCCCGAGGGTGGCA	0.597													T	35556561	C	T	35556561	2	4	739	1	0	0	0	0	0	0	0	1	7391	639	23	1		1	HPN	19	35556561	Silent	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	19717415	35556561	23572422	64	56043											
SHKBP1	92799	broad.mit.edu	37	chr19	41096689	41096689	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggaacactgtgagctgGccccgccggctccttcagct	6	8	12	15	2	1	1	1	1	0	0	2	2	2	2	4	3	4	4	4	3	1	1			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:41096689G>A	ENST00000291842.5	+	17	1871	c.1822G>A	c.(1822-1824)Gcc>Acc	p.A608T	SHKBP1_ENST00000600733.1_Missense_Mutation_p.A583T	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	608						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTGTGAGCTGGCCCCGCCGGC	0.657													A	41096689	G	A	41096689	3	1	739	1	0	0	0	0	1	0	0	0	14378	1203	42	2	1888	2	SHKBP1	19	41096689	Missense_Mutation	SNP	G	TCGA-S9-A89Z-01A-11D-A36O-08	5540128	41096689	18032294	65	56044											
PTPRH	5794	broad.mit.edu	37	chr19	55716930	55716930	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagctgttggtctgagccTccactctcaggttcctcact	5	13	10	13	0	3	1	2	1	2	0	6	2	5	2	3	3	2	3	3	3	0	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr19:55716930T>C	ENST00000376350.3	-	4	405	c.383A>G	c.(382-384)gAg>gGg	p.E128G	PTPRH_ENST00000263434.5_Intron|PTPRH_ENST00000588559.1_5'UTR	NM_002842.3	NP_002833.3	Q9HD43	PTPRH_HUMAN	protein tyrosine phosphatase, receptor type, H	128	Fibronectin type-III 2.				apoptosis	cytoplasm|integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(8)|lung(27)|ovary(2)|prostate(5)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(2)	67		Renal(1328;0.245)	BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0479)		GGTCTGAGCCTCCACTCTCAG	0.572													C	55716930	T	C	55716930	3	2	739	1	0	0	0	0	1	0	0	0	12891	1551	54	3	3032	3	PTPRH	19	55716930	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08	14620241	55716930	3412053	66	56045											
C20orf144	128864	broad.mit.edu	37	chr20	32251489	32251489	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcgagcgcgagccgaggaTgccggtactgctgctgctgc	6	7	16	12	5	0	0	0	0	0	0	0	4	0	1	2	2	9	4	2	2	2	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:32251489T>C	ENST00000375222.3	+	2	340	c.278T>C	c.(277-279)aTg>aCg	p.M93T	NECAB3_ENST00000375238.4_Intron|NECAB3_ENST00000246190.6_Intron	NM_080825.3	NP_543015.1	Q9BQM9	CT144_HUMAN	chromosome 20 open reading frame 144	93										lung(1)	1						GAGCCGAGGATGCCGGTACTG	0.746													C	32251489	T	C	32251489	3	2	739	1	0	0	0	0	1	0	0	0	2111	1464	51	3	284	3	C20orf144	20	32251489	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		32251489	30774031	67	56046											
HNF4A	3172	broad.mit.edu	37	chr20	43052756	43052756	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgaccgccagtatgactcgCgtggccgctttggagagctg	7	8	14	12	5	0	2	0	1	0	1	1	4	0	2	3	2	1	3	3	2	1	2			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr20:43052756C>T	ENST00000316099.4	+	8	1080	c.991C>T	c.(991-993)Cgt>Tgt	p.R331C	HNF4A_ENST00000457232.1_Missense_Mutation_p.R309C|HNF4A_ENST00000609795.1_Missense_Mutation_p.R309C|HNF4A_ENST00000415691.2_Missense_Mutation_p.R331C|HNF4A_ENST00000443598.2_Missense_Mutation_p.R331C|HNF4A_ENST00000316673.4_Missense_Mutation_p.R309C	NM_000457.4|NM_001258355.1|NM_178849.2	NP_000448.3|NP_001245284.1|NP_849180.1	P41235	HNF4A_HUMAN	hepatocyte nuclear factor 4, alpha						blood coagulation|endocrine pancreas development|glucose homeostasis|negative regulation of cell growth|negative regulation of cell proliferation|ornithine metabolic process|phospholipid homeostasis|positive regulation of cholesterol homeostasis|regulation of growth hormone receptor signaling pathway|regulation of insulin secretion|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to glucose stimulus|triglyceride homeostasis|xenobiotic metabolic process	cytoplasm	activating transcription factor binding|protein homodimerization activity|receptor binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding	p.R331G(2)|p.R309G(1)		endometrium(4)|large_intestine(7)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	34		Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)			GTATGACTCGCGTGGCCGCTT	0.592													T	43052756	C	T	43052756	3	4	739	1	0	0	0	0	1	0	0	0	7308	768	27	1	1074	1	HNF4A	20	43052756	Missense_Mutation	SNP	C	TCGA-S9-A89Z-01A-11D-A36O-08	10801267	43052756	19972764	68	56047											
C21orf33	8209	broad.mit.edu	37	chr21	45553593	45553593	+	Frame_Shift_Del	DEL	G	G	-																															caccgcaatggcggctgtgaGggtcctggtggcctcgaggc																										TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chr21:45553593delG	ENST00000291577.6	+	1	107	c.14delG	c.(13-15)aggfs	p.R5fs	C21orf33_ENST00000348499.5_Frame_Shift_Del_p.R5fs|C21orf33_ENST00000493883.1_3'UTR|C21orf33_ENST00000427803.2_Frame_Shift_Del_p.R5fs	NM_004649.6	NP_004640	P30042	ES1_HUMAN	chromosome 21 open reading frame 33	5						mitochondrion				NS(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8				STAD - Stomach adenocarcinoma(101;0.168)|Colorectal(79;0.191)		GCGGCTGTGAGGGTCCTGGTG	0.687													-	45553593	G	-	45553593	7	5	739	1	0	1	0	1	0	0	0	0	2146	1000	35	0	16	0	C21orf33	21	45553593	Frame_Shift_Del	DEL	G	TCGA-S9-A89Z-01A-11D-A36O-08		45553593	2576302	69	56048											
EDA2R	60401	broad.mit.edu	37	chrX	65835830	65835830	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtgacacaccgtccccaTtggtcccagtactcattttc	8	11	7	15	1	1	1	1	1	0	0	4	1	3	1	4	2	1	1	4	2	1	4			TCGA-S9-A89Z-01A-11D-A36O-08	TCGA-S9-A89Z-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	860048e0-8766-4089-81ab-b7e78c3ce37d	ce476398-3d8b-450d-a658-6ed2f06408b0	g.chrX:65835830T>C	ENST00000451436.2	-	2	98	c.17A>G	c.(16-18)aAt>aGt	p.N6S	EDA2R_ENST00000450752.1_Silent_p.Q11Q|EDA2R_ENST00000396050.1_Silent_p.Q11Q|EDA2R_ENST00000456230.2_Silent_p.Q11Q|EDA2R_ENST00000253392.5_Silent_p.Q11Q|EDA2R_ENST00000374719.3_Silent_p.Q11Q			Q9HAV5	TNR27_HUMAN	ectodysplasin A2 receptor	0					cell differentiation|embryo development|epidermis development|positive regulation of JNK cascade|positive regulation of NF-kappaB transcription factor activity	integral to plasma membrane	tumor necrosis factor receptor activity			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	13						ACCGTCCCCATTGGTCCCAGT	0.483													C	65835830	T	C	65835830	3	2	739	1	0	0	0	0	1	0	0	0	4943	1490	52	3	880	3	EDA2R	23	65835830	Missense_Mutation	SNP	T	TCGA-S9-A89Z-01A-11D-A36O-08		65835830	89434730	70	56049											
MKNK1	8569	broad.mit.edu	37	chr1	47024399	47024399	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctctgctagttcgttctcttCgtgctgagatagctggcggt	4	15	12	10	3	2	1	0	1	2	1	5	2	2	1	0	2	3	5	0	2	2	5	rs147526106		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:47024399C>T	ENST00000371946.4	-	14	1409	c.1246G>A	c.(1246-1248)Gaa>Aaa	p.E416K	MKNK1-AS1_ENST00000602433.1_RNA|MKNK1_ENST00000371944.4_Missense_Mutation_p.E280K|MKNK1_ENST00000371945.4_Missense_Mutation_p.E375K|MKNK1_ENST00000428112.2_3'UTR|MKNK1_ENST00000341183.5_3'UTR	NM_003684.5	NP_003675.2	Q9BUB5	MKNK1_HUMAN	MAP kinase interacting serine/threonine kinase 1	416					intracellular protein kinase cascade|peptidyl-serine phosphorylation|regulation of translation	cytoplasm|nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(1)	13	Acute lymphoblastic leukemia(166;0.155)					TCGTTCTCTTCGTGCTGAGAT	0.602													T	47024399	C	T	47024399	3	4	740	1	0	0	0	0	1	0	0	0	9679	893	31	1	155	1	MKNK1	1	47024399	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		47024399	202226222	1	56050											
RAVER2	55225	broad.mit.edu	37	chr1	65273098	65273098	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttgctgctggaagcttgCtggtgggacaccataagcag	9	9	13	10	0	0	0	0	0	0	0	0	2	0	2	2	3	5	5	2	3	2	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:65273098C>G	ENST00000294428.3	+	9	1699	c.1621C>G	c.(1621-1623)Ctg>Gtg	p.L541V	RAVER2_ENST00000371072.4_Missense_Mutation_p.L528V|RAVER2_ENST00000430964.2_Intron			Q9HCJ3	RAVR2_HUMAN	ribonucleoprotein, PTB-binding 2	541						cytoplasm|nucleus	nucleotide binding|RNA binding			breast(2)|endometrium(2)|kidney(1)|large_intestine(7)|lung(6)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						TGGAAGCTTGCTGGTGGGACA	0.493													G	65273098	C	G	65273098	3	3	740	1	0	0	0	0	1	0	0	0	13183	796	28	4	1616	4	RAVER2	1	65273098	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	18248699	65273098	183977523	2	56051											
C1orf173	127254	broad.mit.edu	37	chr1	75038691	75038691	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttcatttgcaagcactgcCttctctaaaccctgttcccc	7	13	5	16	0	2	0	1	0	1	0	4	0	3	0	4	0	4	4	4	0	3	5			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:75038691C>T	ENST00000326665.5	-	14	2921	c.2703G>A	c.(2701-2703)aaG>aaA	p.K901K	C1orf173_ENST00000433746.2_5'UTR	NM_001002912.4	NP_001002912.4	Q5RHP9	CA173_HUMAN	chromosome 1 open reading frame 173	901	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						CAAGCACTGCCTTCTCTAAAC	0.527													T	75038691	C	T	75038691	2	4	740	1	0	0	0	0	0	0	0	1	2034	680	24	2		2	C1orf173	1	75038691	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	9765593	75038691	174211930	3	56052											
FLG	2312	broad.mit.edu	37	chr1	152281402	152281402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgacgcagcctgtccaCgagaggaagactctgtgtga	10	7	15	9	2	1	4	0	2	1	2	2	7	2	6	2	2	1	1	2	2	1	0	rs150720370		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:152281402C>T	ENST00000368799.1	-	3	5995	c.5960G>A	c.(5959-5961)cGt>cAt	p.R1987H	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1987	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity	p.R1987H(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCCTGTCCACGAGAGGAAGA	0.572									Ichthyosis				T	152281402	C	T	152281402	3	4	740	1	0	0	0	0	1	0	0	0	5971	536	19	1	6229	1	FLG	1	152281402	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	77242711	152281402	96969219	4	56053											
EFNA3	1944	broad.mit.edu	37	chr1	155058634	155058634	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cggggagaagccggtccccaCtctcccccagttcaccatgg	7	6	11	17	2	2	1	1	0	1	1	4	2	3	1	6	4	1	1	6	4	1	1	rs143760648		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155058634C>T	ENST00000368408.3	+	4	609	c.539C>T	c.(538-540)aCt>aTt	p.T180I	EFNA3_ENST00000498667.1_3'UTR|EFNA3_ENST00000418360.2_Intron|EFNA3_ENST00000556931.1_Missense_Mutation_p.T175I|EFNA3_ENST00000505139.1_Missense_Mutation_p.T175I	NM_004952.4	NP_004943.1	P52797	EFNA3_HUMAN	ephrin-A3	180					cell-cell signaling	anchored to membrane|integral to plasma membrane	ephrin receptor binding|transmembrane-ephrin receptor activity			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(2)	5	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		all cancers(21;5.67e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000284)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCGGTCCCCACTCTCCCCCAG	0.682											OREG0013850	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	155058634	C	T	155058634	3	4	740	1	0	0	0	0	1	0	0	0	4991	565	20	2	553	2	EFNA3	1	155058634	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2777232	155058634	94191987	5	56054											
ARHGEF2	9181	broad.mit.edu	37	chr1	155935533	155935533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggggtagatggccgagcttGgccgctcccggatggttgct	5	9	17	10	3	0	1	0	0	0	1	1	3	1	2	3	6	2	5	3	6	1	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:155935533G>A	ENST00000462460.2	-	9	748	c.494C>T	c.(493-495)cCa>cTa	p.P165L	ARHGEF2_ENST00000368316.1_Missense_Mutation_p.P93L|ARHGEF2_ENST00000361247.4_Missense_Mutation_p.P120L|ARHGEF2_ENST00000477754.2_Intron|ARHGEF2_ENST00000368315.4_Missense_Mutation_p.P121L|ARHGEF2_ENST00000313695.7_Missense_Mutation_p.P93L|ARHGEF2_ENST00000313667.4_Missense_Mutation_p.P120L			Q92974	ARHG2_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 2						actin filament organization|apoptosis|cell division|cell morphogenesis|induction of apoptosis by extracellular signals|intracellular protein transport|mitosis|negative regulation of microtubule depolymerization|nerve growth factor receptor signaling pathway|positive regulation of NF-kappaB transcription factor activity|regulation of cell proliferation|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|Golgi apparatus|microtubule|ruffle membrane|spindle|tight junction	microtubule binding|Rac GTPase binding|Rac guanyl-nucleotide exchange factor activity|zinc ion binding			breast(4)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(6)|lung(15)|ovary(1)|skin(2)	40	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)					GGCCGAGCTTGGCCGCTCCCG	0.622													A	155935533	G	A	155935533	3	1	740	1	0	0	0	0	1	0	0	0	906	1348	47	2	2673	2	ARHGEF2	1	155935533	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	876899	155935533	93315088	6	56055											
SOAT1	6646	broad.mit.edu	37	chr1	179319441	179319441	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttctttagtttttctccaAgagattcaaatctgctgcca	9	18	5	9	0	4	1	1	0	3	1	5	2	4	1	2	0	2	2	2	0	3	7			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:179319441A>G	ENST00000367619.3	+	14	1468	c.1325A>G	c.(1324-1326)aAg>aGg	p.K442R	SOAT1_ENST00000539888.1_Missense_Mutation_p.K377R|SOAT1_ENST00000535686.1_Missense_Mutation_p.K178R|SOAT1_ENST00000540564.1_Missense_Mutation_p.K384R	NM_003101.5	NP_003092.4	P35610	SOAT1_HUMAN	sterol O-acyltransferase 1	442					cholesterol efflux|cholesterol esterification|cholesterol homeostasis|cholesterol metabolic process|cholesterol storage|macrophage derived foam cell differentiation|positive regulation of amyloid precursor protein biosynthetic process|very-low-density lipoprotein particle assembly	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol binding|cholesterol O-acyltransferase activity|fatty-acyl-CoA binding			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(10)|prostate(1)|skin(3)|stomach(1)	20					Ezetimibe(DB00973)|Hesperetin(DB01094)	TTTTTCTCCAAGAGATTCAAA	0.353													G	179319441	A	G	179319441	3	3	740	1	0	0	0	0	1	0	0	0	15004	72	3	3	1375	3	SOAT1	1	179319441	Missense_Mutation	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	23383908	179319441	69931180	7	56056											
USH2A	7399	broad.mit.edu	37	chr1	215808006	215808006	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaactctgtgcttttgctcCgcgatcccttctttttccca	5	16	6	14	2	2	1	0	0	2	1	5	2	5	1	3	0	3	2	3	0	1	5			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:215808006C>T	ENST00000366943.2	-	70	15478	c.15092G>A	c.(15091-15093)cGg>cAg	p.R5031Q	USH2A_ENST00000307340.3_Missense_Mutation_p.R5031Q			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	5031			R -> W.		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)		GCTTTTGCTCCGCGATCCCTT	0.448										HNSCC(13;0.011)			T	215808006	C	T	215808006	3	4	740	1	0	0	0	0	1	0	0	0	17138	652	23	1	528	1	USH2A	1	215808006	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	36488565	215808006	33442615	8	56057											
OR2T4	127074	broad.mit.edu	37	chr1	248525695	248525695	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccggaaaaaggcctttgcCacctgctcctcccacctgac	8	7	9	17	1	0	1	0	1	0	0	2	2	2	2	7	3	2	1	7	3	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr1:248525695C>A	ENST00000366475.1	+	1	813	c.813C>A	c.(811-813)gcC>gcA	p.A271A		NM_001004696.1	NP_001004696.1	Q8NH00	OR2T4_HUMAN	olfactory receptor, family 2, subfamily T, member 4	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|liver(2)|lung(47)	56	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0265)			AGGCCTTTGCCACCTGCTCCT	0.547													A	248525695	C	A	248525695	2	1	740	1	0	0	0	0	0	0	0	1	11103	581	21	4		4	OR2T4	1	248525695	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	32717689	248525695	724926	9	56058											
CPSF3	51692	broad.mit.edu	37	chr2	9574027	9574027	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acactggtgatttctcaagaCaagaagataggcacttaatg	15	10	9	7	0	1	4	1	1	1	3	2	4	1	4	0	2	0	1	0	2	5	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:9574027C>A	ENST00000460593.1	+	6	1574	c.436C>A	c.(436-438)Caa>Aaa	p.Q146K	CPSF3_ENST00000238112.3_Missense_Mutation_p.Q183K			Q9UKF6	CPSF3_HUMAN	cleavage and polyadenylation specific factor 3, 73kDa	183					histone mRNA 3'-end processing|mRNA cleavage|mRNA export from nucleus|mRNA polyadenylation|nuclear mRNA splicing, via spliceosome|termination of RNA polymerase II transcription	mRNA cleavage and polyadenylation specificity factor complex|ribonucleoprotein complex	5'-3' exonuclease activity|endoribonuclease activity|metal ion binding|protein binding|RNA binding			NS(1)|breast(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)	all_cancers(51;2.39e-25)|all_epithelial(98;8.75e-19)|Lung NSC(108;2.38e-06)|Ovarian(717;0.0308)		all cancers(51;2.2e-40)|Epithelial(75;6.71e-35)|OV - Ovarian serous cystadenocarcinoma(76;4.35e-21)|STAD - Stomach adenocarcinoma(1183;0.00644)		TTTCTCAAGACAAGAAGATAG	0.308													A	9574027	C	A	9574027	3	1	740	1	0	0	0	0	1	0	0	0	3857	479	17	4	569	4	CPSF3	2	9574027	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		9574027	233625346	10	56059											
SCN3A	6328	broad.mit.edu	37	chr2	165997166	165997166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtcatctattatcacctctgGgggaagttgtccagtaggtg	8	13	12	8	0	4	0	2	0	2	0	5	1	5	1	2	3	0	2	2	3	4	4			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:165997166G>A	ENST00000360093.3	-	13	2505	c.2014C>T	c.(2014-2016)Cca>Tca	p.P672S	SCN3A_ENST00000283254.7_Missense_Mutation_p.P672S|SCN3A_ENST00000409101.3_Intron	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	672						voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	ATCACCTCTGGGGGAAGTTGT	0.473													A	165997166	G	A	165997166	3	1	740	1	0	0	0	0	1	0	0	0	14011	1232	43	2	4052	2	SCN3A	2	165997166	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	156423139	165997166	77202207	11	56060											
TTLL4	9654	broad.mit.edu	37	chr2	219602960	219602960	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccatacctctgcttggcagcGgctggggaaaacccttcagg	8	8	12	13	1	2	0	1	0	1	0	2	1	2	1	3	5	4	3	3	5	3	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:219602960G>A	ENST00000392102.1	+	3	901	c.561G>A	c.(559-561)gcG>gcA	p.A187A	TTLL4_ENST00000258398.4_Silent_p.A187A|TTLL4_ENST00000442769.1_Silent_p.A187A|TTLL4_ENST00000457313.1_Silent_p.A22A	NM_014640.4	NP_055455.3	Q14679	TTLL4_HUMAN	tubulin tyrosine ligase-like family, member 4	187					protein polyglutamylation	cilium|microtubule basal body	ATP binding|tubulin binding|tubulin-tyrosine ligase activity			endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	39		Renal(207;0.0915)		Epithelial(149;5.03e-07)|all cancers(144;0.000106)|LUSC - Lung squamous cell carcinoma(224;0.00829)|Lung(261;0.0101)		GCTTGGCAGCGGCTGGGGAAA	0.542													A	219602960	G	A	219602960	2	1	740	1	0	0	0	0	0	0	0	1	16831	1103	39	1		1	TTLL4	2	219602960	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	53605794	219602960	23596413	12	56061											
COL6A3	1293	broad.mit.edu	37	chr2	238280552	238280552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctggtctgcgttcctggCgatcgtgaaaggggccacgc	5	9	14	13	4	1	1	0	1	1	0	4	2	3	1	3	4	1	1	3	4	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr2:238280552C>T	ENST00000295550.4	-	9	4560	c.4108G>A	c.(4108-4110)Gcc>Acc	p.A1370T	COL6A3_ENST00000347401.3_Missense_Mutation_p.A1169T|COL6A3_ENST00000346358.4_Missense_Mutation_p.A1170T|COL6A3_ENST00000353578.4_Missense_Mutation_p.A1164T|COL6A3_ENST00000392004.3_Missense_Mutation_p.A1164T|COL6A3_ENST00000409809.1_Missense_Mutation_p.A1164T|COL6A3_ENST00000472056.1_Missense_Mutation_p.A763T|COL6A3_ENST00000392003.2_Missense_Mutation_p.A963T	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1370	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		GCGTTCCTGGCGATCGTGAAA	0.612													T	238280552	C	T	238280552	3	4	740	1	0	0	0	0	1	0	0	0	3732	768	27	1	5616	1	COL6A3	2	238280552	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	18677592	238280552	4918821	13	56062											
CADPS	8618	broad.mit.edu	37	chr3	62463981	62463981	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttgccatcaacttcagcCgttgttccaggtgctttcca	7	13	7	14	1	2	0	2	0	0	0	4	0	4	0	4	1	4	3	4	1	1	5			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:62463981C>T	ENST00000383710.4	-	23	3633	c.3284G>A	c.(3283-3285)cGg>cAg	p.R1095Q	CADPS_ENST00000283269.9_Missense_Mutation_p.R1056Q|CADPS_ENST00000357948.3_Missense_Mutation_p.R1016Q	NM_003716.3	NP_003707.2	Q9ULU8	CAPS1_HUMAN	Ca++-dependent secretion activator	1095	Interaction with DRD2.|MHD1.				exocytosis|protein transport	cell junction|cytoplasmic vesicle membrane|cytosol|synapse	lipid binding|metal ion binding			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(24)|lung(38)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(2)	92		Lung SC(41;0.0452)		BRCA - Breast invasive adenocarcinoma(55;5.98e-05)|KIRC - Kidney renal clear cell carcinoma(15;0.0246)|Kidney(15;0.0334)		CAACTTCAGCCGTTGTTCCAG	0.502													T	62463981	C	T	62463981	3	4	740	1	0	0	0	0	1	0	0	0	2596	652	23	1	809	1	CADPS	3	62463981	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		62463981	135558449	14	56063											
DGKG	1608	broad.mit.edu	37	chr3	186024718	186024718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggtcatattgtttgaggctcCcaccctcattaaattcagtc	9	14	7	11	0	3	1	3	1	0	0	5	1	4	1	2	2	0	2	2	2	3	5			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr3:186024718C>T	ENST00000265022.3	-	3	655	c.116G>A	c.(115-117)gGg>gAg	p.G39E	DGKG_ENST00000344484.4_Missense_Mutation_p.G39E|DGKG_ENST00000382164.4_Missense_Mutation_p.G39E|DGKG_ENST00000544847.1_Missense_Mutation_p.G39E	NM_001080744.1|NM_001080745.1|NM_001346.2	NP_001074213.1|NP_001074214.1|NP_001337.2	P49619	DGKG_HUMAN	diacylglycerol kinase, gamma 90kDa	39					activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	cytoplasm|plasma membrane	ATP binding|calcium ion binding|diacylglycerol kinase activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	42	all_cancers(143;3.26e-12)|Ovarian(172;0.0315)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)	GBM - Glioblastoma multiforme(93;0.0657)	Phosphatidylserine(DB00144)	TTTGAGGCTCCCACCCTCATT	0.383													T	186024718	C	T	186024718	3	4	740	1	0	0	0	0	1	0	0	0	4508	623	22	2	2351	2	DGKG	3	186024718	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	123560737	186024718	11997712	15	56064											
PRMT10	90826	broad.mit.edu	37	chr4	148605024	148605024	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataggcagtgccgaagtcctGgacgcccagacagtgctctg	9	7	13	12	2	1	1	0	0	1	1	2	3	2	2	3	2	2	2	3	2	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr4:148605024G>A	ENST00000322396.6	-	1	357	c.115C>T	c.(115-117)Cag>Tag	p.Q39*	PRMT10_ENST00000541232.1_5'UTR	NM_138364.2	NP_612373.2	Q6P2P2	ANM10_HUMAN	protein arginine methyltransferase 10 (putative)	39						cytoplasm	binding|protein methyltransferase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CCGAAGTCCTGGACGCCCAGA	0.672													A	148605024	G	A	148605024	4	1	740	1	0	0	0	0	0	1	0	0	12622	1357	47	2	2470	2	PRMT10	4	148605024	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		148605024	42549252	16	56065											
SLC9A3	6550	broad.mit.edu	37	chr5	488443	488443	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcaccacggtgactgcGtcgttcagcagcgactcccc	6	9	10	16	4	2	1	2	1	0	0	4	2	3	1	3	1	4	3	3	1	0	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:488443G>A	ENST00000264938.3	-	3	672	c.663C>T	c.(661-663)gaC>gaT	p.D221D	SLC9A3_ENST00000514375.1_Silent_p.D221D	NM_004174.2	NP_004165.2	P48764	SL9A3_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3	221						cell surface|integral to membrane	sodium:hydrogen antiporter activity			NS(2)|biliary_tract(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(2)|lung(16)|prostate(3)|skin(2)|urinary_tract(1)	37			Epithelial(17;0.000529)|OV - Ovarian serous cystadenocarcinoma(19;0.00153)|all cancers(22;0.00186)|Lung(60;0.0863)			CGGTGACTGCGTCGTTCAGCA	0.662													A	488443	G	A	488443	2	1	740	1	0	0	0	0	0	0	0	1	14807	1136	40	1		1	SLC9A3	5	488443	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		488443	180426817	17	56066											
NIPBL	25836	broad.mit.edu	37	chr5	37000657	37000657	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tggaagattattctcctcctCccagccttagtgagggtaat	9	13	9	10	0	1	2	0	1	1	1	4	3	3	3	4	2	1	1	4	2	4	4			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:37000657C>T	ENST00000282516.8	+	12	3986	c.3487C>T	c.(3487-3489)Ccc>Tcc	p.P1163S	NIPBL_ENST00000448238.2_Missense_Mutation_p.P1163S	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	1163					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TTCTCCTCCTCCCAGCCTTAG	0.393													T	37000657	C	T	37000657	3	4	740	1	0	0	0	0	1	0	0	0	10504	855	30	2	3529	2	NIPBL	5	37000657	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	36512214	37000657	143914603	18	56067											
PCDHGA2	56113	broad.mit.edu	37	chr5	140719294	140719294	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagtaccgcataagcattccGgagaatacgctcgtgggcac	11	7	12	11	4	0	1	0	0	0	1	2	3	1	1	2	2	3	5	2	2	4	4			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140719294G>A	ENST00000394576.2	+	1	756	c.756G>A	c.(754-756)ccG>ccA	p.P252P	PCDHGA1_ENST00000517417.1_Intron	NM_018915.2	NP_061738.1														breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(32)|ovary(1)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	77			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TAAGCATTCCGGAGAATACGC	0.552													A	140719294	G	A	140719294	2	1	740	1	0	0	0	0	0	0	0	1	11630	1103	39	1		1	PCDHGA2	5	140719294	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	103718637	140719294	40195966	19	56068											
PCDHGA5	56110	broad.mit.edu	37	chr5	140744172	140744172	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caccgcgggcaggatagaccGggaggagctctgcgctcaga	9	4	16	12	4	2	2	1	0	1	2	2	5	2	5	2	4	2	3	2	4	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:140744172G>A	ENST00000518069.1	+	1	275	c.275G>A	c.(274-276)cGg>cAg	p.R92Q	PCDHGB1_ENST00000523390.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1														endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGGATAGACCGGGAGGAGCTC	0.537													A	140744172	G	A	140744172	3	1	740	1	0	0	0	0	1	0	0	0	11633	1116	39	1	277	1	PCDHGA5	5	140744172	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	24878	140744172	40171088	20	56069											
RANBP17	64901	broad.mit.edu	37	chr5	170692729	170692729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaccagtttagactacatcGtcacctacctcttcaagcac	11	11	5	14	1	3	1	2	0	1	1	4	1	3	1	3	0	4	3	3	0	5	6	rs141341938	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr5:170692729G>A	ENST00000523189.1	+	25	2985	c.2821G>A	c.(2821-2823)Gtc>Atc	p.V941I	RANBP17_ENST00000521759.1_3'UTR	NM_022897.3	NP_075048.1	Q9H2T7	RBP17_HUMAN	RAN binding protein 17	941					mRNA transport|protein import into nucleus|transmembrane transport	cytoplasm|nuclear pore	GTP binding|protein transporter activity			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(25)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	50	Renal(175;0.000159)|Lung NSC(126;0.00751)|all_lung(126;0.0123)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGACTACATCGTCACCTACCT	0.418			T	TRD@	ALL								A	170692729	G	A	170692729	3	1	740	1	0	0	0	0	1	0	0	0	13115	1145	40	1	2919	1	RANBP17	5	170692729	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	29948557	170692729	10222531	21	56070											
RIMS1	22999	broad.mit.edu	37	chr6	72889437	72889437	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taccaagagaaaagaaagcaCgactccaagagcgatcgcgg	17	3	11	10	4	0	3	0	0	0	3	2	6	1	3	2	1	3	1	2	1	6	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:72889437C>T	ENST00000264839.7	+	5	631	c.631C>T	c.(631-633)Cga>Tga	p.R211*	RIMS1_ENST00000348717.5_Nonsense_Mutation_p.R211*|RIMS1_ENST00000517960.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000518273.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000520567.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000491071.2_Nonsense_Mutation_p.R211*|RIMS1_ENST00000522291.1_Nonsense_Mutation_p.R211*|RIMS1_ENST00000521978.1_Nonsense_Mutation_p.R211*			Q86UR5	RIMS1_HUMAN	regulating synaptic membrane exocytosis 1	211					calcium ion-dependent exocytosis|cellular membrane fusion|glutamate secretion|intracellular protein transport|protein complex assembly|regulated secretory pathway|response to stimulus|synaptic vesicle exocytosis|visual perception	cell junction|presynaptic membrane	metal ion binding|Rab GTPase binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(25)|liver(4)|lung(35)|ovary(9)|pancreas(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	102		all_epithelial(107;0.179)|all_hematologic(105;0.212)				AAAGAAAGCACGACTCCAAGA	0.567													T	72889437	C	T	72889437	4	4	740	1	0	0	0	0	0	1	0	0	13458	528	19	1	649	1	RIMS1	6	72889437	Nonsense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		72889437	98225630	22	56071											
UTRN	7402	broad.mit.edu	37	chr6	145156985	145156985	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtccccagtgagccagccGcagagcccagctcagatcct	9	5	11	16	1	1	3	1	1	0	2	3	4	3	3	6	0	4	2	6	0	0	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr6:145156985G>A	ENST00000367545.3	+	69	9735	c.9735G>A	c.(9733-9735)ccG>ccA	p.P3245P	UTRN_ENST00000367526.4_Silent_p.P800P	NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	3245					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		TGAGCCAGCCGCAGAGCCCAG	0.557													A	145156985	G	A	145156985	2	1	740	1	0	0	0	0	0	0	0	1	17205	1074	38	1		1	UTRN	6	145156985	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	72267548	145156985	25958082	23	56072											
CCDC129	223075	broad.mit.edu	37	chr7	31682624	31682624	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gtggcagcttctgccaatgcCccatgctgagtatgaggtca	8	10	12	11	0	2	2	1	2	1	0	2	2	2	2	3	2	4	4	3	2	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:31682624C>T	ENST00000319386.3	+	11	2189	c.1196C>T	c.(1195-1197)cCc>cTc	p.P399L	CCDC129_ENST00000407970.3_Missense_Mutation_p.P547L|CCDC129_ENST00000409210.1_Missense_Mutation_p.P455L|CCDC129_ENST00000451887.2_Missense_Mutation_p.P573L			Q6ZRS4	CC129_HUMAN	coiled-coil domain containing 129	547										cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(31)	44						CTGCCAATGCCCCATGCTGAG	0.527													T	31682624	C	T	31682624	3	4	740	1	0	0	0	0	1	0	0	0	2790	623	22	2	1678	2	CCDC129	7	31682624	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		31682624	127456039	24	56073											
NPC1L1	29881	broad.mit.edu	37	chr7	44560403	44560403	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcaagttcacagaggtgcTgtatgctgccaggccgctgc	8	9	13	11	1	2	1	2	0	0	1	2	1	2	1	2	2	4	5	2	2	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:44560403T>C	ENST00000289547.4	-	14	3152	c.3097A>G	c.(3097-3099)Agc>Ggc	p.S1033G	NPC1L1_ENST00000381160.3_Missense_Mutation_p.S1033G|NPC1L1_ENST00000546276.1_Missense_Mutation_p.S987G	NM_013389.2	NP_037521.2	Q9UHC9	NPCL1_HUMAN	NPC1-like 1	1033					cholesterol biosynthetic process|intestinal cholesterol absorption|lipoprotein metabolic process	apical plasma membrane|cytoplasmic vesicle membrane|integral to membrane	hedgehog receptor activity|protein binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|large_intestine(7)|lung(27)|ovary(6)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	57					Ezetimibe(DB00973)	ACAGAGGTGCTGTATGCTGCC	0.582													C	44560403	T	C	44560403	3	2	740	1	0	0	0	0	1	0	0	0	10647	1580	55	3	1010	3	NPC1L1	7	44560403	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08	12877779	44560403	114578260	25	56074											
EGFR	1956	broad.mit.edu	37	chr7	55221822	55221822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gggcaaatacagctttggtgCcacctgcgtgaagaagtgtc	10	9	13	9	1	0	2	0	1	0	1	1	2	0	2	2	2	4	2	2	2	4	2	rs149840192		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:55221822C>T	ENST00000275493.2	+	7	1043	c.866C>T	c.(865-867)gCc>gTc	p.A289V	EGFR_ENST00000342916.3_Missense_Mutation_p.A289V|EGFR_ENST00000454757.2_Missense_Mutation_p.A236V|EGFR_ENST00000442591.1_Missense_Mutation_p.A289V|EGFR_ENST00000455089.1_Missense_Mutation_p.A244V|EGFR_ENST00000344576.2_Missense_Mutation_p.A289V|EGFR_ENST00000420316.2_Missense_Mutation_p.A289V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	289					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.A289V(20)|p.A289D(3)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	AGCTTTGGTGCCACCTGCGTG	0.592		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221822	C	T	55221822	3	4	740	1	0	0	0	0	1	0	0	0	5006	739	26	2	892	2	EGFR	7	55221822	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	10661419	55221822	103916841	26	56075											
ANKRD7	56311	broad.mit.edu	37	chr7	117874919	117874919	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacgaagctgatcttgaagcGaaaaataaggtagttttcta	15	12	9	5	2	2	2	0	2	2	0	2	4	2	2	0	1	3	3	0	1	8	7			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:117874919G>A	ENST00000357099.4	+	4	692	c.519G>A	c.(517-519)gcG>gcA	p.A173A	ANKRD7_ENST00000433239.1_Silent_p.A100A|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000265224.4_Silent_p.A153A|ANKRD7_ENST00000417525.1_Silent_p.A100A			Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	153					male gonad development					breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						ATCTTGAAGCGAAAAATAAGG	0.299													A	117874919	G	A	117874919	2	1	740	1	0	0	0	0	0	0	0	1	686	1045	37	1		1	ANKRD7	7	117874919	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	62653097	117874919	41263744	27	56076											
GPR37	2861	broad.mit.edu	37	chr7	124386977	124386977	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actctctagttgaatctgccGtttattccctcgggtacagg	7	14	9	11	2	2	1	0	1	2	0	5	1	3	1	2	2	2	3	2	2	4	6			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:124386977G>A	ENST00000303921.2	-	2	2094	c.1444C>T	c.(1444-1446)Cgg>Tgg	p.R482W		NM_005302.3	NP_005293.1	O15354	GPR37_HUMAN	G protein-coupled receptor 37 (endothelin receptor type B-like)	482						endoplasmic reticulum membrane|integral to plasma membrane	G-protein coupled receptor activity			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(8)|lung(11)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						TGAATCTGCCGTTTATTCCCT	0.428													A	124386977	G	A	124386977	3	1	740	1	0	0	0	0	1	0	0	0	6745	1144	40	1	401	1	GPR37	7	124386977	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	6512058	124386977	34751686	28	56077											
GRM8	2918	broad.mit.edu	37	chr7	126409978	126409978	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tcccatcaatggtactcattCgtggacaaaggccaatgtat	12	11	8	10	1	2	0	2	0	0	0	4	1	3	1	2	3	1	2	2	3	5	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr7:126409978C>T	ENST00000339582.2	-	7	2106	c.1298G>A	c.(1297-1299)cGa>cAa	p.R433Q	GRM8_ENST00000405249.1_Missense_Mutation_p.R433Q|GRM8_ENST00000480995.1_5'UTR|GRM8_ENST00000358373.3_Missense_Mutation_p.R433Q|GRM8_ENST00000444921.2_Missense_Mutation_p.R433Q			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	433					negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)			L-Glutamic Acid(DB00142)	GGTACTCATTCGTGGACAAAG	0.403										HNSCC(24;0.065)			T	126409978	C	T	126409978	3	4	740	1	0	0	0	0	1	0	0	0	6858	884	31	1	1498	1	GRM8	7	126409978	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2023001	126409978	32728685	29	56078											
DOCK5	80005	broad.mit.edu	37	chr8	25253206	25253206	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtggcatcgtggacccggccGtcatggggggcttctccaac	5	8	15	13	3	2	0	1	0	1	0	4	1	2	1	3	6	1	2	3	6	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:25253206G>A	ENST00000276440.7	+	45	4719	c.4675G>A	c.(4675-4677)Gtc>Atc	p.V1559I		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1559	DHR-2.					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		GGACCCGGCCGTCATGGGGGG	0.582													A	25253206	G	A	25253206	3	1	740	1	0	0	0	0	1	0	0	0	4729	1145	40	1	4853	1	DOCK5	8	25253206	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		25253206	121110816	30	56079											
ANK1	286	broad.mit.edu	37	chr8	41530255	41530255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagagaaggcgtgaggccCgcagaccacacctgcatgtc	11	4	12	14	2	0	3	0	1	0	2	1	4	0	3	4	2	1	2	4	2	1	0	rs138394311	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:41530255C>T	ENST00000396942.1	-	38	4796	c.4713G>A	c.(4711-4713)gcG>gcA	p.A1571A	ANK1_ENST00000347528.4_Silent_p.A1571A|ANK1_ENST00000289734.7_Silent_p.A1571A|ANK1_ENST00000265709.8_Silent_p.A1612A|ANK1_ENST00000352337.4_Silent_p.A1571A|ANK1_ENST00000396945.1_Silent_p.A1571A|ANK1_ENST00000379758.2_Silent_p.A1571A			P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1571	55 kDa regulatory domain.				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GCGTGAGGCCCGCAGACCACA	0.602													T	41530255	C	T	41530255	2	4	740	1	0	0	0	0	0	0	0	1	620	639	23	1		1	ANK1	8	41530255	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	16277049	41530255	104833767	31	56080											
KCNB2	9312	broad.mit.edu	37	chr8	73480009	73480009	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcttaaacaggaagactTcaaggtcgacactttccctt	11	10	9	11	2	1	1	1	0	0	1	3	3	2	2	1	3	1	1	1	3	4	4			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr8:73480009T>C	ENST00000523207.1	+	2	628	c.40T>C	c.(40-42)Tca>Cca	p.S14P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	14					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			CAGGAAGACTTCAAGGTCGAC	0.502													C	73480009	T	C	73480009	3	2	740	1	0	0	0	0	1	0	0	0	8071	1783	62	3	42	3	KCNB2	8	73480009	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08	31949754	73480009	72884013	32	56081											
MKI67	4288	broad.mit.edu	37	chr10	129921413	129921413	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaacaggaagctggataCggatgtcacattcaataccc	15	7	8	11	1	2	0	2	0	0	0	2	3	2	3	1	3	4	1	1	3	5	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr10:129921413C>T	ENST00000368654.3	-	3	488	c.113G>A	c.(112-114)cGt>cAt	p.R38H	MKI67_ENST00000368653.3_Missense_Mutation_p.R38H	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	38	FHA.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				AAGCTGGATACGGATGTCACA	0.348													T	129921413	C	T	129921413	3	4	740	1	0	0	0	0	1	0	0	0	9673	536	19	1	9709	1	MKI67	10	129921413	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		129921413	5613334	33	56082											
MUC5B	727897	broad.mit.edu	37	chr11	1271690	1271690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagctttacagccatcccctCctcctccctgggcaccacct	6	9	5	21	0	0	0	0	0	0	0	4	0	4	0	8	1	3	2	8	1	1	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:1271690C>A	ENST00000447027.1	+	31	13647	c.13589C>A	c.(13588-13590)tCc>tAc	p.S4530Y	MUC5B_ENST00000529681.1_Missense_Mutation_p.S4527Y			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	4527	23 X approximate tandem repeats, Ser/Thr- rich.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		GCCATCCCCTCCTCCTCCCTG	0.622													A	1271690	C	A	1271690	3	1	740	1	0	0	0	0	1	0	0	0	10055	855	30	4	13711	4	MUC5B	11	1271690	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		1271690	133734826	34	56083											
OR51T1	401665	broad.mit.edu	37	chr11	4903844	4903844	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccgaaagaagcaacaaaaaGctctcagcacttgtgtctgt	14	8	8	11	1	2	1	1	0	2	1	3	2	2	1	1	0	4	3	1	0	5	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:4903844G>T	ENST00000380378.1	+	1	796	c.796G>T	c.(796-798)Gct>Tct	p.A266S	OR51T1_ENST00000322049.1_Missense_Mutation_p.A239S|MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	239					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		GCAACAAAAAGCTCTCAGCAC	0.488													T	4903844	G	T	4903844	3	4	740	1	0	0	0	0	1	0	0	0	11182	971	34	4	798	4	OR51T1	11	4903844	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	3632154	4903844	130102672	35	56084											
MS4A6A	64231	broad.mit.edu	37	chr11	59949075	59949075	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaataactttgatttctgcGtgtagatgtttcttcaggct	8	17	8	8	1	3	2	1	1	2	1	3	2	3	2	1	1	2	3	1	1	3	6	rs113133013		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:59949075G>A	ENST00000528851.1	-	2	266	c.126C>T	c.(124-126)caC>caT	p.H42H	MS4A6A_ENST00000530839.1_Silent_p.H42H|MS4A6A_ENST00000532169.1_Silent_p.H42H|MS4A6A_ENST00000323961.3_Silent_p.H42H|MS4A6A_ENST00000420732.2_Silent_p.H42H|MS4A6A_ENST00000412309.2_Silent_p.H70H|MS4A6A_ENST00000529054.1_Silent_p.H70H|MS4A6A_ENST00000533023.1_Silent_p.H42H|MS4A6A_ENST00000426738.2_Silent_p.H42H			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	42						integral to membrane	receptor activity	p.H42H(1)		endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TGATTTCTGCGTGTAGATGTT	0.468													A	59949075	G	A	59949075	2	1	740	1	0	0	0	0	0	0	0	1	9940	1136	40	1		1	MS4A6A	11	59949075	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	55045231	59949075	75057441	36	56085											
ANO1	55107	broad.mit.edu	37	chr11	70011580	70011580	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctctctgtccacagtgtgCgccagggggctgcctgatgg	4	10	15	12	1	1	1	0	1	1	0	3	1	2	1	3	3	3	2	3	3	0	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr11:70011580C>T	ENST00000355303.5	+	20	2260	c.1955C>T	c.(1954-1956)gCg>gTg	p.A652V	ANO1_ENST00000530676.1_Missense_Mutation_p.A506V|ANO1_ENST00000531349.1_Missense_Mutation_p.A361V|ANO1_ENST00000398543.2_Missense_Mutation_p.A506V|ANO1_ENST00000538023.1_Missense_Mutation_p.A652V	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	652					multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						CCACAGTGTGCGCCAGGGGGC	0.607													T	70011580	C	T	70011580	3	4	740	1	0	0	0	0	1	0	0	0	695	768	27	1	2033	1	ANO1	11	70011580	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	10062505	70011580	64994936	37	56086											
WNK1	65125	broad.mit.edu	37	chr12	978106	978106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agtcacctccccctacagggGgagcagctgcaccttttggc	7	8	11	15	0	1	0	1	0	0	0	2	1	2	1	4	3	4	3	4	3	1	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:978106G>A	ENST00000537687.1	+	9	3857	c.3214G>A	c.(3214-3216)Gga>Aga	p.G1072R	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000530271.2_Missense_Mutation_p.G1157R|WNK1_ENST00000340908.4_Intron|WNK1_ENST00000574564.1_Missense_Mutation_p.G371R	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	822					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CCCTACAGGGGGAGCAGCTGC	0.502													A	978106	G	A	978106	3	1	740	1	0	0	0	0	1	0	0	0	17479	1233	43	2	3507	2	WNK1	12	978106	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		978106	132873789	38	56087											
TAS2R31	259290	broad.mit.edu	37	chr12	11183917	11183917	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accacactggaaaaaatgatGggtataaaagttgtcatgtc	16	10	9	6	0	1	1	1	1	0	0	2	2	1	2	1	2	0	2	1	2	6	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:11183917G>A	ENST00000390675.2	-	1	89	c.18C>T	c.(16-18)ccC>ccT	p.P6P	TAS2R14_ENST00000381852.4_Intron|PRR4_ENST00000536668.1_Intron	NM_176885.2	NP_795366.2	P59538	T2R31_HUMAN	taste receptor, type 2, member 31	6					sensory perception of taste	integral to membrane	G-protein coupled receptor activity			kidney(1)|lung(6)	7						AAAAAATGATGGGTATAAAAG	0.403													A	11183917	G	A	11183917	2	1	740	1	0	0	0	0	0	0	0	1	15671	1335	47	2		2	TAS2R31	12	11183917	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	10205811	11183917	122667978	39	56088											
GRIN2B	2904	broad.mit.edu	37	chr12	13717356	13717356	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agtcagaatgcgtgaagctgCggcggtgctctgagatgtca	9	9	15	8	3	3	3	2	2	1	2	3	4	3	3	0	2	4	2	0	2	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:13717356C>T	ENST00000609686.1	-	13	3025	c.2816G>A	c.(2815-2817)cGc>cAc	p.R939H		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B						response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	CGTGAAGCTGCGGCGGTGCTC	0.542													T	13717356	C	T	13717356	3	4	740	1	0	0	0	0	1	0	0	0	6835	768	27	1	1642	1	GRIN2B	12	13717356	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2533439	13717356	120134539	40	56089											
COL2A1	1280	broad.mit.edu	37	chr12	48377906	48377906	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcacctgtctcaccAtctttgccaggaagacccta	9	9	7	16	0	2	1	1	0	2	1	3	2	2	2	5	1	3	2	5	1	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr12:48377906A>G	ENST00000380518.3	-	29	2069	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	COL2A1_ENST00000337299.6_Silent_p.D566D|COL2A1_ENST00000493991.1_5'UTR	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	635	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	CTGTCTCACCATCTTTGCCAG	0.592													G	48377906	A	G	48377906	2	3	740	1	0	0	0	0	0	0	0	1	3718	214	8	3		3	COL2A1	12	48377906	Silent	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	34660550	48377906	85473989	41	56090											
MTUS2	23281	broad.mit.edu	37	chr13	29599192	29599192	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acagtggagagaggcacagaTagcctgcagaccacgcggag	13	3	15	10	2	0	3	0	0	0	3	0	6	0	5	2	3	2	2	2	3	1	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr13:29599192T>A	ENST00000431530.3	+	1	445	c.387T>A	c.(385-387)gaT>gaA	p.D129E		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	119						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						GAGGCACAGATAGCCTGCAGA	0.507													A	29599192	T	A	29599192	3	1	740	1	0	0	0	0	1	0	0	0	10042	1403	49	5	389	5	MTUS2	13	29599192	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		29599192	85570686	42	56091											
IRF9	10379	broad.mit.edu	37	chr14	24634044	24634044	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acccccgaggcctcttcgtgCagcgcctttgccccatcccc	4	8	8	21	3	1	0	0	0	1	0	3	1	2	0	8	1	3	1	8	1	0	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:24634044C>T	ENST00000396864.3	+	7	1158	c.871C>T	c.(871-873)Cag>Tag	p.Q291*	IRF9_ENST00000557894.1_Nonsense_Mutation_p.Q189*|RP11-468E2.4_ENST00000558468.1_3'UTR	NM_006084.4	NP_006075.3	Q00978	IRF9_HUMAN	interferon regulatory factor 9	291					interferon-gamma-mediated signaling pathway|response to virus|transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	cytosol|nucleoplasm	DNA binding|identical protein binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16				GBM - Glioblastoma multiforme(265;0.00853)		CCTCTTCGTGCAGCGCCTTTG	0.672													T	24634044	C	T	24634044	4	4	740	1	0	0	0	0	0	1	0	0	7895	711	25	2	893	2	IRF9	14	24634044	Nonsense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		24634044	82715496	43	56092											
AHNAK2	113146	broad.mit.edu	37	chr14	105418755	105418755	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatggacttccctggggcCgataccccgaacgacggcat	8	8	12	13	4	0	1	0	1	0	0	1	5	1	2	4	4	2	1	4	4	2	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr14:105418755C>T	ENST00000333244.5	-	7	3152	c.3033G>A	c.(3031-3033)tcG>tcA	p.S1011S	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1011						nucleus				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			TCCCTGGGGCCGATACCCCGA	0.607													T	105418755	C	T	105418755	2	4	740	1	0	0	0	0	0	0	0	1	415	639	23	1		1	AHNAK2	14	105418755	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	80784711	105418755	1930785	44	56093											
AP4E1	23431	broad.mit.edu	37	chr15	51240332	51240332	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtcatcgtcaatttggtcgGcaaaatagcagagctggctg	10	11	12	8	2	2	1	2	0	0	1	4	1	2	1	0	3	2	4	0	3	4	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:51240332G>A	ENST00000261842.5	+	11	1398	c.1292G>A	c.(1291-1293)gGc>gAc	p.G431D	AP4E1_ENST00000560508.1_Missense_Mutation_p.G356D	NM_001252127.1|NM_007347.4	NP_001239056.1|NP_031373.2	Q9UPM8	AP4E1_HUMAN	adaptor-related protein complex 4, epsilon 1 subunit	431					intracellular protein transport|vesicle-mediated transport	COPI vesicle coat	binding|structural molecule activity			breast(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(5)|skin(2)	27				all cancers(107;0.000893)|GBM - Glioblastoma multiforme(94;0.00364)		AATTTGGTCGGCAAAATAGCA	0.338													A	51240332	G	A	51240332	3	1	740	1	0	0	0	0	1	0	0	0	754	1203	42	2	1334	2	AP4E1	15	51240332	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		51240332	51291060	45	56094											
MNS1	55329	broad.mit.edu	37	chr15	56721344	56721344	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctttgttgatatactttcctGaactcttcaccaagcagatc	10	15	5	11	0	2	3	1	2	1	1	4	3	3	3	2	0	3	2	2	0	4	6			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr15:56721344G>A	ENST00000260453.3	-	10	1607	c.1443C>T	c.(1441-1443)ttC>ttT	p.F481F	TEX9_ENST00000352903.2_Intron|MNS1_ENST00000566386.1_5'UTR|TEX9_ENST00000537232.1_Intron	NM_018365.2	NP_060835.1	Q8NEH6	MNS1_HUMAN	meiosis-specific nuclear structural 1	481					meiosis					breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|pancreas(2)|skin(1)|upper_aerodigestive_tract(1)	20				all cancers(107;0.0196)|GBM - Glioblastoma multiforme(80;0.101)		ATACTTTCCTGAACTCTTCAC	0.323													A	56721344	G	A	56721344	2	1	740	1	0	0	0	0	0	0	0	1	9753	1281	45	2		2	MNS1	15	56721344	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	5481012	56721344	45810048	46	56095											
ABCC1	4363	broad.mit.edu	37	chr16	16150051	16150051	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	cctgggagctggcattcaagGacaaggtgctggccatcagg	9	7	15	10	0	2	0	2	0	0	0	2	2	2	2	2	6	2	3	2	6	2	1	rs72547522		TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:16150051G>C	ENST00000399408.2	+	12	1751	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	ABCC1_ENST00000351154.5_Missense_Mutation_p.D526H|ABCC1_ENST00000346370.5_Missense_Mutation_p.D526H|ABCC1_ENST00000349029.5_Missense_Mutation_p.D526H|ABCC1_ENST00000399410.3_Missense_Mutation_p.D526H|ABCC1_ENST00000345148.5_Missense_Mutation_p.D526H			P33527	MRP1_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 1	526	ABC transmembrane type-1 1.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process|response to drug	Golgi apparatus|integral to plasma membrane|membrane fraction|nucleus	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|endometrium(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(5)|prostate(1)|skin(3)	56					Daunorubicin(DB00694)|Glibenclamide(DB01016)|Probenecid(DB01032)|Saquinavir(DB01232)|Sulfinpyrazone(DB01138)	GGCATTCAAGGACAAGGTGCT	0.532													C	16150051	G	C	16150051	3	2	740	1	0	0	0	0	1	0	0	0	49	1174	41	4	1622	4	ABCC1	16	16150051	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		16150051	74204702	47	56096											
FANCA	2175	broad.mit.edu	37	chr16	89813023	89813023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaaattaaggggcatttcGtctggcacttggccagtatg	10	12	11	8	1	2	0	1	0	1	0	3	0	2	0	1	4	0	3	1	4	4	4	rs142833057	by1000genomes	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr16:89813023G>A	ENST00000389301.3	-	35	3512	c.3482C>T	c.(3481-3483)aCg>aTg	p.T1161M	FANCA_ENST00000568369.1_Missense_Mutation_p.T1161M	NM_000135.2	NP_000126.2	O15360	FANCA_HUMAN	Fanconi anemia, complementation group A	1161					DNA repair|protein complex assembly	cytoplasm|nucleoplasm	protein binding	p.T1161M(2)		breast(5)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|urinary_tract(3)	47		Lung NSC(15;8.48e-06)|all_lung(18;1.31e-05)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.028)		GGGGCATTTCGTCTGGCACTT	0.567			"D, Mis, N, F, S"			"AML, leukemia"		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				A	89813023	G	A	89813023	3	1	740	1	0	0	0	0	1	0	0	0	5711	1145	40	1	921	1	FANCA	16	89813023	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	73662972	89813023	541730	48	56097											
CNTROB	116840	broad.mit.edu	37	chr17	7850971	7850971	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggaagatcctggacctgaCggggagggcctcctaaagca	11	5	15	10	1	0	2	0	1	0	1	2	6	2	5	4	5	1	1	4	5	3	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:7850971C>T	ENST00000380262.3	+	14	3001	c.2076C>T	c.(2074-2076)gaC>gaT	p.D692D	CNTROB_ENST00000380255.3_3'UTR|CNTROB_ENST00000565740.1_Silent_p.D692D|CNTROB_ENST00000563694.1_Silent_p.D692D	NM_001037144.5	NP_001032221.1	Q8N137	CNTRB_HUMAN	centrobin, centrosomal BRCA2 interacting protein	692	Pro-rich.|Required for centrosome localization.				centriole replication|centrosome separation|cytokinesis	centriole	protein domain specific binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(9)	25		Prostate(122;0.173)				CTGGACCTGACGGGGAGGGCC	0.557													T	7850971	C	T	7850971	2	4	740	1	0	0	0	0	0	0	0	1	3682	535	19	1		1	CNTROB	17	7850971	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08		7850971	73344239	49	56098											
MYH1	4619	broad.mit.edu	37	chr17	10404812	10404812	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cctcctccagctcctcaatgCgggcctgggaatggtgaaaa	9	8	11	13	1	1	1	1	1	0	0	4	2	4	2	5	3	2	1	5	3	4	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:10404812C>T	ENST00000226207.5	-	27	3447	c.3353G>A	c.(3352-3354)cGc>cAc	p.R1118H	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	1118						muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTCCTCAATGCGGGCCTGGGA	0.502													T	10404812	C	T	10404812	3	4	740	1	0	0	0	0	1	0	0	0	10105	768	27	1	2522	1	MYH1	17	10404812	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	2553841	10404812	70790398	50	56099											
SLC13A2	9058	broad.mit.edu	37	chr17	26817852	26817852	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgcaagccagcagcaacGtcgaggagggcagcaacaac	13	2	13	13	3	0	0	0	0	0	0	2	2	0	1	1	2	7	6	1	2	4	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:26817852G>A	ENST00000444914.3	+	4	1069	c.649G>A	c.(649-651)Gtc>Atc	p.V217I	SLC13A2_ENST00000545060.1_Missense_Mutation_p.V125I|SLC13A2_ENST00000314669.5_Missense_Mutation_p.V168I|SLC13A2_ENST00000537681.1_Missense_Mutation_p.V97I	NM_001145975.1	NP_001139447.1	Q13183	S13A2_HUMAN	solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2	168						integral to plasma membrane|membrane fraction	low affinity sodium:dicarboxylate symporter activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26	all_lung(13;0.000871)|Lung NSC(42;0.0027)			UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	Succinic acid(DB00139)	CAGCAGCAACGTCGAGGAGGG	0.597													A	26817852	G	A	26817852	3	1	740	1	0	0	0	0	1	0	0	0	14486	1145	40	1	663	1	SLC13A2	17	26817852	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	16413040	26817852	54377358	51	56100											
GAS2L2	246176	broad.mit.edu	37	chr17	34074958	34074958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgtaccatcacatggttccGgaggatctgagggggcaagg	10	7	15	9	2	2	1	1	1	1	0	3	3	3	3	2	6	1	3	2	6	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:34074958G>A	ENST00000254466.6	-	4	769	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	GAS2L2_ENST00000587565.1_Missense_Mutation_p.R232W	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	248	GAR.				cell cycle arrest	cytoplasm|cytoskeleton				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		ACATGGTTCCGGAGGATCTGA	0.642											OREG0024328	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	34074958	G	A	34074958	3	1	740	1	0	0	0	0	1	0	0	0	6301	1115	39	1	1912	1	GAS2L2	17	34074958	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	7257106	34074958	47120252	52	56101											
TNS4	84951	broad.mit.edu	37	chr17	38645139	38645139	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcgaagggagccgaagggCggggtgacagaggggctgga	9	3	22	7	3	0	2	0	1	0	1	0	6	0	4	1	7	2	1	1	7	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:38645139C>T	ENST00000254051.6	-	3	680	c.522G>A	c.(520-522)ccG>ccA	p.P174P		NM_032865.5	NP_116254.4	Q8IZW8	TENS4_HUMAN	tensin 4	174	Ser-rich.				apoptosis|protein localization	cytoplasm|cytoskeleton|focal adhesion	actin binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	30		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(5;5.91e-05)			AGCCGAAGGGCGGGGTGACAG	0.607													T	38645139	C	T	38645139	2	4	740	1	0	0	0	0	0	0	0	1	16445	755	27	1		1	TNS4	17	38645139	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	4570181	38645139	42550071	53	56102											
KRT13	3860	broad.mit.edu	37	chr17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctccacgctctggcGcagggccagctcattctcat	5	9	11	16	3	3	0	2	0	2	0	6	0	4	0	3	3	1	3	3	3	0	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483													A	39659673	G	A	39659673	3	1	740	1	0	0	0	0	1	0	0	0	8508	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	1014534	39659673	41535537	54	56103											
NPTX1	4884	broad.mit.edu	37	chr17	78447110	78447110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgcccacacctggcgtggCgctggacttgagccacatgc	6	7	13	15	3	0	1	0	1	0	0	0	2	0	2	3	3	3	1	3	3	0	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr17:78447110C>T	ENST00000306773.4	-	3	944	c.787G>A	c.(787-789)Gcc>Acc	p.A263T		NM_002522.3	NP_002513.2	Q15818	NPTX1_HUMAN	neuronal pentraxin I	263	Pentaxin.				central nervous system development|synaptic transmission|transport	transport vesicle	metal ion binding			kidney(1)|large_intestine(2)|liver(1)|lung(4)|prostate(2)|upper_aerodigestive_tract(1)	11	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0487)			CCTGGCGTGGCGCTGGACTTG	0.587													T	78447110	C	T	78447110	3	4	740	1	0	0	0	0	1	0	0	0	10678	768	27	1	523	1	NPTX1	17	78447110	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	38787437	78447110	2748100	55	56104											
ACAA2	10449	broad.mit.edu	37	chr18	47329202	47329202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctccaaagggcgttcgcTtagcagcaactacaaacaca	15	6	8	12	2	0	0	0	0	0	0	2	0	1	0	1	1	6	5	1	1	6	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr18:47329202T>C	ENST00000285093.10	-	2	513	c.38A>G	c.(37-39)aAg>aGg	p.K13R	ACAA2_ENST00000589432.1_5'UTR|RP11-886H22.1_ENST00000590532.2_3'UTR|ACAA2_ENST00000587994.1_Missense_Mutation_p.K10R	NM_006111.2	NP_006102.2	P42765	THIM_HUMAN	acetyl-CoA acyltransferase 2	13					anti-apoptosis|cholesterol biosynthetic process		acetyl-CoA C-acyltransferase activity|protein binding			large_intestine(2)|lung(7)|ovary(1)	10						GGGCGTTCGCTTAGCAGCAAC	0.448													C	47329202	T	C	47329202	3	2	740	1	0	0	0	0	1	0	0	0	105	1609	56	3	1191	3	ACAA2	18	47329202	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		47329202	30748046	56	56105											
THOP1	7064	broad.mit.edu	37	chr19	2808387	2808387	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgctgctgcagcatgacgAggtggagacctacttccatg	8	9	12	12	2	0	2	0	1	0	1	2	4	1	2	2	2	4	4	2	2	1	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:2808387A>G	ENST00000307741.6	+	9	1603	c.1400A>G	c.(1399-1401)gAg>gGg	p.E467G	THOP1_ENST00000586677.1_Missense_Mutation_p.E346G|THOP1_ENST00000591149.1_3'UTR	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	467					proteolysis	cytoplasm	metal ion binding|metalloendopeptidase activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				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)		CAGCATGACGAGGTGGAGACC	0.692													G	2808387	A	G	2808387	3	3	740	1	0	0	0	0	1	0	0	0	15971	304	11	3	1434	3	THOP1	19	2808387	Missense_Mutation	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08		2808387	56320596	57	56106											
TNFSF14	8740	broad.mit.edu	37	chr19	6664984	6664984	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccgggtaccatcacgcagtcGaaccaggcgttcatccagca	10	6	10	15	4	2	0	2	0	0	0	4	1	3	0	4	2	3	4	4	2	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:6664984G>A	ENST00000326176.9	-	5	949	c.568C>T	c.(568-570)Cga>Tga	p.R190*	TNFSF14_ENST00000245912.3_Nonsense_Mutation_p.R190*|TNFSF14_ENST00000599359.1_Nonsense_Mutation_p.R226*	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	226					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCACGCAGTCGAACCAGGCGT	0.602													A	6664984	G	A	6664984	4	1	740	1	0	0	0	0	0	1	0	0	16407	1066	37	1	50	1	TNFSF14	19	6664984	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	3856597	6664984	52463999	58	56107											
SMARCA4	6597	broad.mit.edu	37	chr19	11170533	11170533	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagagtgaggaggaggaagaGggcgaggaggaaggctccga	13	2	22	4	2	0	3	0	1	0	2	1	11	1	8	1	7	0	1	1	7	2	0			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:11170533G>A	ENST00000358026.2	+	34	5120	c.4836G>A	c.(4834-4836)gaG>gaA	p.E1612E	SMARCA4_ENST00000413806.3_Silent_p.E1550E|SMARCA4_ENST00000589677.1_Silent_p.E1549E|SMARCA4_ENST00000344626.4_Silent_p.E1580E|SMARCA4_ENST00000541122.2_Silent_p.E1550E|SMARCA4_ENST00000590574.1_Silent_p.E1547E|SMARCA4_ENST00000444061.3_Silent_p.E1546E|SMARCA4_ENST00000429416.3_Silent_p.E1580E|SMARCA4_ENST00000450717.3_Silent_p.E1549E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1580					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				aggaggaagagggcgaggagg	0.612			"F, N, Mis"		NSCLC								A	11170533	G	A	11170533	2	1	740	1	0	0	0	0	0	0	0	1	14864	991	35	2		2	SMARCA4	19	11170533	Silent	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	4505549	11170533	47958450	59	56108											
PBX4	80714	broad.mit.edu	37	chr19	19675808	19675808	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aacttccgtggtatccacagCcgttttacccgtgtaaatgg	9	12	9	11	3	0	0	0	0	0	0	2	0	2	0	4	2	3	3	4	2	5	5			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:19675808C>T	ENST00000251203.9	-	6	1145	c.859G>A	c.(859-861)Gct>Act	p.A287T		NM_025245.2	NP_079521.1	Q9BYU1	PBX4_HUMAN	pre-B-cell leukemia homeobox 4								sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			large_intestine(1)|lung(4)|ovary(1)|prostate(3)	9						GTATCCACAGCCGTTTTACCC	0.527													T	19675808	C	T	19675808	3	4	740	1	0	0	0	0	1	0	0	0	11571	739	26	2	277	2	PBX4	19	19675808	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	8505275	19675808	39453175	60	56109											
ATP1A3	478	broad.mit.edu	37	chr19	42489240	42489240	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagtgctcaatctcgatggCgatgggcgtcttgcccacct	7	10	12	12	3	3	0	1	0	2	0	4	3	3	0	2	2	2	1	2	2	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:42489240C>T	ENST00000545399.1	-	8	1015	c.862G>A	c.(862-864)Gcc>Acc	p.A288T	ATP1A3_ENST00000543770.1_Missense_Mutation_p.A286T|ATP1A3_ENST00000602133.1_Missense_Mutation_p.A245T|ATP1A3_ENST00000302102.5_Missense_Mutation_p.A275T	NM_001256214.1	NP_001243143.1	P13637	AT1A3_HUMAN	ATPase, Na+/K+ transporting, alpha 3 polypeptide	275					ATP biosynthetic process	endoplasmic reticulum|Golgi apparatus	ATP binding|metal ion binding|sodium:potassium-exchanging ATPase activity			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(19)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	52						ATCTCGATGGCGATGGGCGTC	0.632													T	42489240	C	T	42489240	3	4	740	1	0	0	0	0	1	0	0	0	1135	768	27	1	2282	1	ATP1A3	19	42489240	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	22813432	42489240	16639743	61	56110											
SYMPK	8189	broad.mit.edu	37	chr19	46351096	46351096	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtatctctgagtcagccatgCggggtgacagggtgacaatg	9	9	15	8	1	2	3	1	3	1	0	3	3	2	3	1	3	2	1	1	3	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr19:46351096C>T	ENST00000245934.7	-	7	834	c.590G>A	c.(589-591)cGc>cAc	p.R197H		NM_004819.2	NP_004810.2	Q92797	SYMPK_HUMAN	symplekin	197					cell adhesion|mRNA processing	cytoplasm|cytoskeleton|nucleoplasm|tight junction	protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(25)|ovary(1)|urinary_tract(1)	45		all_neural(266;0.0299)|Ovarian(192;0.0308)		OV - Ovarian serous cystadenocarcinoma(262;0.00509)|GBM - Glioblastoma multiforme(486;0.0593)		GTCAGCCATGCGGGGTGACAG	0.577													T	46351096	C	T	46351096	3	4	740	1	0	0	0	0	1	0	0	0	15536	768	27	1	3318	1	SYMPK	19	46351096	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	3861856	46351096	12777887	62	56111											
SIGLEC1	6614	broad.mit.edu	37	chr20	3686553	3686553	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctgttgaaggtgacagagcGagcagggtcctggccttgcc	7	8	16	10	1	0	3	0	2	0	1	1	4	1	3	3	3	3	3	3	3	1	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:3686553G>A	ENST00000344754.4	-	3	543	c.544C>T	c.(544-546)Cgc>Tgc	p.R182C	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.R182C	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	182	Ig-like C2-type 1.				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						GTGACAGAGCGAGCAGGGTCC	0.627													A	3686553	G	A	3686553	3	1	740	1	0	0	0	0	1	0	0	0	14399	1058	37	1	4661	1	SIGLEC1	20	3686553	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		3686553	59338967	63	56112											
SEMG1	6406	broad.mit.edu	37	chr20	43836216	43836216	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgaatgccctacataagaCgacaaaatcacaacgacatc	17	8	5	11	2	1	2	1	1	0	1	2	4	1	2	1	0	3	0	1	0	6	3			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr20:43836216C>T	ENST00000372781.3	+	2	335	c.278C>T	c.(277-279)aCg>aTg	p.T93M	SEMG1_ENST00000244069.6_Missense_Mutation_p.T93M	NM_003007.3	NP_002998.1			semenogelin I											cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(12)|prostate(1)|skin(6)|stomach(2)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.0122)				CTACATAAGACGACAAAATCA	0.378													T	43836216	C	T	43836216	3	4	740	1	0	0	0	0	1	0	0	0	14137	536	19	1	284	1	SEMG1	20	43836216	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	40149663	43836216	19189304	64	56113											
MED15	51586	broad.mit.edu	37	chr22	20929472	20929472	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcctaccaccgctgtgtccGccatcccgtcaagctccatc	6	8	7	20	4	1	0	1	0	0	0	5	0	4	0	7	0	2	2	7	0	2	1			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chr22:20929472G>A	ENST00000263205.7	+	9	1294	c.1225G>A	c.(1225-1227)Gcc>Acc	p.A409T	MED15_ENST00000541476.1_Intron|MED15_ENST00000478831.1_Intron|MED15_ENST00000382974.2_Intron|MED15_ENST00000542773.1_Intron|MED15_ENST00000425759.2_Intron|MED15_ENST00000406969.1_Intron|MED15_ENST00000292733.7_Intron	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	409	Pro-rich.				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	Golgi apparatus|mediator complex	protein binding			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			CGCTGTGTCCGCCATCCCGTC	0.622													A	20929472	G	A	20929472	3	1	740	1	0	0	0	0	1	0	0	0	9508	1087	38	1	1259	1	MED15	22	20929472	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08		20929472	30375094	65	56114											
MAP7D2	256714	broad.mit.edu	37	chrX	20033363	20033363	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttctctccagtctctccTgctcaatctgcagcataatc	7	15	4	15	0	5	0	1	0	4	0	10	0	7	0	2	0	3	3	2	0	2	2			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:20033363T>G	ENST00000379651.3	-	11	1622	c.1604A>C	c.(1603-1605)cAg>cCg	p.Q535P	MAP7D2_ENST00000443379.3_Missense_Mutation_p.Q490P|MAP7D2_ENST00000452324.3_Missense_Mutation_p.Q483P|MAP7D2_ENST00000379643.5_Missense_Mutation_p.Q576P|MAP7D2_ENST00000543767.1_Missense_Mutation_p.Q420P	NM_152780.3	NP_689993.2	Q96T17	MA7D2_HUMAN	MAP7 domain containing 2	535										NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(13)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	37						CAGTCTCTCCTGCTCAATCTG	0.473													G	20033363	T	G	20033363	3	3	740	1	0	0	0	0	1	0	0	0	9343	1580	55	5	614	5	MAP7D2	23	20033363	Missense_Mutation	SNP	T	TCGA-TM-A7C3-01A-11D-A32B-08		20033363	135237197	66	56115											
MED12	9968	broad.mit.edu	37	chrX	70352986	70352986	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attctagattgtgaataattGgcgagatgaccagtacttag	13	13	10	5	1	1	4	0	2	1	2	1	5	1	4	1	1	1	1	1	1	5	7			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:70352986G>A	ENST00000333646.6	+	33	4740	c.4541G>A	c.(4540-4542)tGg>tAg	p.W1514*	MED12_ENST00000374102.1_Nonsense_Mutation_p.W1514*|MED12_ENST00000374080.3_Nonsense_Mutation_p.W1514*	NM_005120.2	NP_005111.2	Q93074	MED12_HUMAN	mediator complex subunit 12	1514					androgen receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ligand-dependent nuclear receptor transcription coactivator activity|protein C-terminus binding|protein domain specific binding|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(6)|central_nervous_system(2)|endometrium(22)|kidney(5)|large_intestine(8)|lung(31)|ovary(2)|pancreas(1)|prostate(11)|skin(5)|soft_tissue(323)|upper_aerodigestive_tract(1)|urinary_tract(3)	420	Renal(35;0.156)					GTGAATAATTGGCGAGATGAC	0.438			"M, S"		uterine leiomyoma		Opitz-Kaveggia Syndrome						A	70352986	G	A	70352986	4	1	740	1	0	0	0	0	0	1	0	0	9503	1357	47	2	4671	2	MED12	23	70352986	Nonsense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	50319623	70352986	84917574	67	56116											
STAG2	10735	broad.mit.edu	37	chrX	123179121	123179121	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggcaatgtcaatatagtatCatatatgatgagtatatgat	15	14	8	4	1	2	3	2	3	0	0	2	3	2	3	0	1	0	3	0	1	9	7			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123179121C>T	ENST00000371160.1	+	8	860	c.570C>T	c.(568-570)atC>atT	p.I190I	STAG2_ENST00000371145.3_Silent_p.I190I|STAG2_ENST00000354548.5_Silent_p.I121I|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Silent_p.I190I|STAG2_ENST00000371144.3_Silent_p.I190I|STAG2_ENST00000371157.3_Silent_p.I190I	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	190					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						AATATAGTATCATATATGATG	0.408													T	123179121	C	T	123179121	2	4	740	1	0	0	0	0	0	0	0	1	15339	816	29	2		2	STAG2	23	123179121	Silent	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	52826135	123179121	32091439	68	56117											
STAG2	10735	broad.mit.edu	37	chrX	123227873	123227873	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttatatttctctagtcggcGtggcacaagcctaatggaag	10	13	10	8	2	1	0	0	0	1	0	3	1	1	1	1	3	1	1	1	3	6	6			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:123227873G>A	ENST00000371160.1	+	32	3763	c.3473G>A	c.(3472-3474)cGt>cAt	p.R1158H	STAG2_ENST00000371145.3_Missense_Mutation_p.R1195H|STAG2_ENST00000354548.5_Missense_Mutation_p.R1089H|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Missense_Mutation_p.R1195H|STAG2_ENST00000371144.3_Missense_Mutation_p.R1158H|STAG2_ENST00000371157.3_Missense_Mutation_p.R1158H	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2	1158					cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TCTAGTCGGCGTGGCACAAGC	0.388													A	123227873	G	A	123227873	3	1	740	1	0	0	0	0	1	0	0	0	15339	1145	40	1	3706	1	STAG2	23	123227873	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	48752	123227873	32042687	69	56118											
ATP11C	286410	broad.mit.edu	37	chrX	138864753	138864753	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaattcatgtttgtctcaatAtcatcgaaaactttttccat	13	17	3	8	1	3	0	3	0	1	0	6	1	4	0	1	0	1	1	1	0	5	5			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:138864753A>G	ENST00000370557.1	-	18	2932	c.1905T>C	c.(1903-1905)gaT>gaC	p.D635D	ATP11C_ENST00000361648.2_Silent_p.D638D|ATP11C_ENST00000327569.3_Silent_p.D638D|ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000359686.2_Silent_p.D638D|ATP11C_ENST00000370543.1_Silent_p.D638D			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	638					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTGTCTCAATATCATCGAAAA	0.333													G	138864753	A	G	138864753	2	3	740	1	0	0	0	0	0	0	0	1	1126	446	16	3		3	ATP11C	23	138864753	Silent	SNP	A	TCGA-TM-A7C3-01A-11D-A32B-08	15636880	138864753	16405807	70	56119											
MAGEA10	4109	broad.mit.edu	37	chrX	151304073	151304073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcaggcatgcagcgctgaCgctttggagctcgaggcatg	7	9	14	11	3	1	1	1	1	0	0	2	3	1	2	0	3	3	6	0	3	0	2	rs145553450	byFrequency	TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:151304073C>T	ENST00000370323.4	-	4	336	c.20G>A	c.(19-21)cGt>cAt	p.R7H	MAGEA10_ENST00000244096.3_Missense_Mutation_p.R7H|RP11-1007I13.4_ENST00000509345.2_RNA	NM_001251828.1|NM_021048.4	NP_001238757.1|NP_066386	P43363	MAGAA_HUMAN	melanoma antigen family A, 10	7								p.R7H(1)		endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGCGCTGACGCTTTGGAGC	0.602													T	151304073	C	T	151304073	3	4	740	1	0	0	0	0	1	0	0	0	9235	536	19	1	1093	1	MAGEA10	23	151304073	Missense_Mutation	SNP	C	TCGA-TM-A7C3-01A-11D-A32B-08	12439320	151304073	3966487	71	56120											
PLXNB3	5365	broad.mit.edu	37	chrX	153036313	153036313	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagccatttggccctacGcgtgcggaaccttcaacatt	9	9	11	12	3	1	1	1	0	0	1	1	3	1	2	3	3	5	0	3	3	3	4			TCGA-TM-A7C3-01A-11D-A32B-08	TCGA-TM-A7C3-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a8ccc4d-4e28-4654-9517-10b528eca28c	8ff43236-e765-4701-97a0-47358b10779a	g.chrX:153036313G>A	ENST00000538966.1	+	12	2451	c.2180G>A	c.(2179-2181)cGc>cAc	p.R727H	PLXNB3_ENST00000538282.1_Missense_Mutation_p.R314H|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R357H|PLXNB3_ENST00000538543.1_Intron|PLXNB3_ENST00000361971.5_Missense_Mutation_p.R704H	NM_001163257.1	NP_001156729.1	Q9ULL4	PLXB3_HUMAN	plexin B3	704					axon guidance	integral to membrane|intracellular|plasma membrane	protein binding|receptor activity			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					TTGGCCCTACGCGTGCGGAAC	0.637													A	153036313	G	A	153036313	3	1	740	1	0	0	0	0	1	0	0	0	12202	1087	38	1	2267	1	PLXNB3	23	153036313	Missense_Mutation	SNP	G	TCGA-TM-A7C3-01A-11D-A32B-08	1732240	153036313	2234247	72	56121											
AGL	178	broad.mit.edu	37	chr1	100356833	100356833	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacttggggcatcctttttGtaataatttgagatctggag	9	16	11	5	0	1	2	0	2	1	1	2	4	2	3	1	3	0	2	1	3	2	6			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:100356833G>A	ENST00000294724.4	+	22	3348	c.2870G>A	c.(2869-2871)tGt>tAt	p.C957Y	AGL_ENST00000370163.3_Missense_Mutation_p.C957Y|AGL_ENST00000361302.3_Missense_Mutation_p.C941Y|AGL_ENST00000361915.3_Missense_Mutation_p.C957Y|AGL_ENST00000370161.2_Missense_Mutation_p.C941Y|AGL_ENST00000361522.4_Missense_Mutation_p.C940Y|AGL_ENST00000370165.3_Missense_Mutation_p.C957Y	NM_000028.2	NP_000019.2	P35573	GDE_HUMAN	amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase	957					glucose metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol|isoamylase complex|nucleus	4-alpha-glucanotransferase activity|amylo-alpha-1,6-glucosidase activity|cation binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(9)|lung(35)|ovary(1)|prostate(4)|skin(3)|urinary_tract(1)	69		all_epithelial(167;2.2e-06)|all_lung(203;0.000295)|Lung NSC(277;0.00131)		Epithelial(280;0.15)|COAD - Colon adenocarcinoma(174;0.151)|Lung(183;0.209)|all cancers(265;0.237)		CATCCTTTTTGTAATAATTTG	0.368													A	100356833	G	A	100356833	3	1	741	1	0	0	0	0	1	0	0	0	384	1377	48	2	3021	2	AGL	1	100356833	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		100356833	148893788	1	56122											
ADCY10	55811	broad.mit.edu	37	chr1	167802329	167802329	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attaagttgtaaggaaagatTcggttgaggagcttcagtgc	12	12	13	4	1	1	2	1	1	0	1	2	4	1	4	0	3	2	4	0	3	3	6			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr1:167802329T>G	ENST00000367848.1	-	25	3710	c.3213A>C	c.(3211-3213)cgA>cgC	p.R1071R	ADCY10_ENST00000545172.1_Silent_p.R1010R|ADCY10_ENST00000367851.4_Silent_p.R1163R			Q96PN6	ADCYA_HUMAN	adenylate cyclase 10 (soluble)	1163					intracellular signal transduction|spermatogenesis	cytoskeleton|cytosol|perinuclear region of cytoplasm|plasma membrane|soluble fraction	adenylate cyclase activity|ATP binding|magnesium ion binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(3)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(26)|ovary(2)|prostate(4)|skin(6)|stomach(1)|urinary_tract(1)	63						AAGGAAAGATTCGGTTGAGGA	0.473													G	167802329	T	G	167802329	2	3	741	1	0	0	0	0	0	0	0	1	293	1770	62	5		5	ADCY10	1	167802329	Silent	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	67445496	167802329	81448292	2	56123											
REL	5966	broad.mit.edu	37	chr2	61149557	61149557	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagtcgggaccatcaaacAgtactaatccaaacagtcat	16	8	7	10	1	2	1	2	1	0	0	4	2	3	2	2	1	3	1	2	1	4	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:61149557A>T	ENST00000295025.8	+	11	2067	c.1747A>T	c.(1747-1749)Agt>Tgt	p.S583C	REL_ENST00000394479.3_Missense_Mutation_p.S551C	NM_002908.2	NP_002899.1	Q04864	REL_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog						positive regulation of I-kappaB kinase/NF-kappaB cascade	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(1)|endometrium(1)|large_intestine(5)|lung(3)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	16	all_hematologic(2;0.0797)	Ovarian(717;0.0728)	LUSC - Lung squamous cell carcinoma(5;6.2e-08)|Lung(5;1.65e-06)|Epithelial(17;0.064)|all cancers(80;0.221)			ACCATCAAACAGTACTAATCC	0.373			A		Hodgkin Lymphoma								T	61149557	A	T	61149557	3	4	741	1	0	0	0	0	1	0	0	0	13303	188	7	5	1789	5	REL	2	61149557	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		61149557	182049816	3	56124											
CEP68	23177	broad.mit.edu	37	chr2	65298755	65298755	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cagcctcacagctcaggtctCtcttgcctgtcacagtggaa	8	10	9	14	0	5	0	3	0	2	0	6	1	5	1	2	2	3	1	2	2	1	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298755C>G	ENST00000377990.2	+	3	728	c.525C>G	c.(523-525)ctC>ctG	p.L175L	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Silent_p.L175L|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Silent_p.L175L	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	175					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						GCTCAGGTCTCTCTTGCCTGT	0.577													G	65298755	C	G	65298755	2	3	741	1	0	0	0	0	0	0	0	1	3288	900	32	4		4	CEP68	2	65298755	Silent	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	4149198	65298755	177900618	4	56125			1	89		2	2	23	N	T_C	3.126894e-05
CEP68	23177	broad.mit.edu	37	chr2	65298777	65298777	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgcctgtcacagtggaagTccgtgctgagcccaggttcc	6	10	12	13	1	1	1	1	1	0	0	3	2	3	2	4	2	3	2	4	2	1	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:65298777T>C	ENST00000377990.2	+	3	750	c.547T>C	c.(547-549)Tcc>Ccc	p.S183P	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.S183P|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000546106.1_Missense_Mutation_p.S183P	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	183					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						ACAGTGGAAGTCCGTGCTGAG	0.607													C	65298777	T	C	65298777	3	2	741	1	0	0	0	0	1	0	0	0	3288	1667	58	3	553	3	CEP68	2	65298777	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	22	65298777	177900596	5	56126			1	89		2	2	23	N	T_C	3.126894e-05
LCT	3938	broad.mit.edu	37	chr2	136558246	136558246	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgggttcagcccagtcactGctgatggtgatggaaatcac	9	10	12	10	0	3	2	3	2	0	0	3	3	3	3	1	3	2	2	1	3	1	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:136558246G>T	ENST00000264162.2	-	12	4807	c.4797C>A	c.(4795-4797)agC>agA	p.S1599R		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1599	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		CCCAGTCACTGCTGATGGTGA	0.522													T	136558246	G	T	136558246	3	4	741	1	0	0	0	0	1	0	0	0	8752	1310	46	4	1010	4	LCT	2	136558246	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	71259469	136558246	106641127	6	56127											
TTN	7273	broad.mit.edu	37	chr2	179474646	179474646	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ccatcatacaaaggtggcttCcatgtaatagtcattgcctc	11	12	7	11	0	2	0	2	0	0	0	4	0	3	0	3	2	2	2	3	2	4	5			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:179474646C>T	ENST00000589042.1	-	272	51728	c.51504G>A	c.(51502-51504)tgG>tgA	p.W17168*	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.W8228*|TTN_ENST00000460472.2_Nonsense_Mutation_p.W8103*|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.W8295*|TTN_ENST00000591111.1_Nonsense_Mutation_p.W15527*|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.W14600*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	15527	Fibronectin type-III 24.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AAGGTGGCTTCCATGTAATAG	0.433													T	179474646	C	T	179474646	4	4	741	1	0	0	0	0	0	1	0	0	16837	856	30	2	56553	2	TTN	2	179474646	Nonsense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	42916400	179474646	63724727	7	56128											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	741	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	29638466	209113112	34086261	8	56129											
PTPRG	5793	broad.mit.edu	37	chr3	62268456	62268456	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtcccaaatggcctaacccaGatgcccccataagtagtacc	12	7	7	15	0	0	1	0	0	0	1	1	1	1	1	6	1	3	2	6	1	5	4			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:62268456G>C	ENST00000474889.1	+	28	4344	c.3967G>C	c.(3967-3969)Gat>Cat	p.D1323H	PTPRG-AS1_ENST00000474795.1_RNA|PTPRG-AS1_ENST00000495542.1_RNA|PTPRG-AS1_ENST00000479018.1_RNA|PTPRG-AS1_ENST00000475371.1_RNA|PTPRG-AS1_ENST00000490916.1_RNA|PTPRG-AS1_ENST00000466893.1_RNA|PTPRG-AS1_ENST00000462497.1_RNA|PTPRG_ENST00000295874.10_Missense_Mutation_p.D1294H	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	1323	Tyrosine-protein phosphatase 2.				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)		GCCTAACCCAGATGCCCCCAT	0.428													C	62268456	G	C	62268456	3	2	741	1	0	0	0	0	1	0	0	0	12890	942	33	4	4077	4	PTPRG	3	62268456	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		62268456	135753974	9	56130											
KIAA2018	205717	broad.mit.edu	37	chr3	113377453	113377453	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaagtcaggatgatccaTctgatcagaaagagatgatt	17	9	10	5	0	3	6	2	3	1	3	4	8	4	7	1	1	0	0	1	1	3	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:113377453T>A	ENST00000316407.4	-	7	3486	c.3076A>T	c.(3076-3078)Atg>Ttg	p.M1026L	KIAA2018_ENST00000478658.1_Missense_Mutation_p.M1026L|KIAA2018_ENST00000491165.1_Intron	NM_001009899.2	NP_001009899.2	Q68DE3	K2018_HUMAN	KIAA2018	1026					regulation of transcription, DNA-dependent	membrane|nucleus	calcium ion binding|DNA binding|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						GGATGATCCATCTGATCAGAA	0.348													A	113377453	T	A	113377453	3	1	741	1	0	0	0	0	1	0	0	0	8326	1435	50	5	3665	5	KIAA2018	3	113377453	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	51108997	113377453	84644977	10	56131											
ILDR1	286676	broad.mit.edu	37	chr3	121712253	121712253	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcccgggggctgggcctgCggggcctctcctgacagcgg	2	7	17	15	3	2	1	0	1	2	0	4	1	2	1	4	6	2	1	4	6	0	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:121712253C>T	ENST00000273691.3	-	6	1316	c.1211G>A	c.(1210-1212)cGc>cAc	p.R404H	ILDR1_ENST00000344209.5_Missense_Mutation_p.R448H|ILDR1_ENST00000460554.1_5'UTR|ILDR1_ENST00000393631.1_Missense_Mutation_p.R359H|ILDR1_ENST00000462014.1_Missense_Mutation_p.R416H	NM_175924.3	NP_787120.1	Q86SU0	ILDR1_HUMAN	immunoglobulin-like domain containing receptor 1	448						cytosol|integral to membrane|plasma membrane	receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				GBM - Glioblastoma multiforme(114;0.156)		GCTGGGCCTGCGGGGCCTCTC	0.677													T	121712253	C	T	121712253	3	4	741	1	0	0	0	0	1	0	0	0	7767	768	27	1	305	1	ILDR1	3	121712253	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	8334800	121712253	76310177	11	56132											
RASA2	5922	broad.mit.edu	37	chr3	141289844	141289844	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatatatgttatacagaagaCtacgtgcttccttcagagta	14	13	7	7	1	1	3	1	0	0	3	2	3	2	3	1	0	3	3	1	0	8	8			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr3:141289844C>G	ENST00000286364.3	+	10	989	c.954C>G	c.(952-954)gaC>gaG	p.D318E	RASA2_ENST00000452898.1_Missense_Mutation_p.D318E			Q15283	RASA2_HUMAN	RAS p21 protein activator 2	318					intracellular signal transduction|negative regulation of Ras protein signal transduction	intracellular membrane-bounded organelle|intrinsic to internal side of plasma membrane|perinuclear region of cytoplasm	metal ion binding|Ras GTPase activator activity			NS(1)|breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	34						ATACAGAAGACTACGTGCTTC	0.363													G	141289844	C	G	141289844	3	3	741	1	0	0	0	0	1	0	0	0	13149	564	20	4	992	4	RASA2	3	141289844	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	19577591	141289844	56732586	12	56133											
NDUFAF2	91942	broad.mit.edu	37	chr5	60241050	60241050	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttacccctactgcgggtcccGctgctggcagcgctggaaac	6	8	12	15	3	0	0	0	0	0	0	1	1	1	1	3	3	6	4	3	3	3	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632													A	60241050	G	A	60241050	1	1	741	1	0	0	0	0	0	0	0	0	10351	1102	38	1		1	NDUFAF2	5	60241050	Translation_Start_Site	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		60241050	120674210	13	56134											
SLC22A5	6584	broad.mit.edu	37	chr5	131714135	131714135	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccttgttcttcgtgggtgtGctgttgggctccttcatttc	1	19	11	10	1	2	0	1	0	1	0	6	0	4	0	2	2	1	4	2	2	0	6			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr5:131714135G>A	ENST00000245407.3	+	2	680	c.459G>A	c.(457-459)gtG>gtA	p.V153V	SLC22A5_ENST00000435065.2_Silent_p.V177V	NM_003060.3	NP_003051.1	O76082	S22A5_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 5	153					positive regulation of intestinal epithelial structure maintenance|quorum sensing involved in interaction with host|sodium ion transport|sodium-dependent organic cation transport	apical plasma membrane|brush border membrane|integral to membrane	ATP binding|carnitine transporter activity|PDZ domain binding|symporter activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|stomach(1)	8		all_cancers(142;0.0751)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		L-Carnitine(DB00583)	TCGTGGGTGTGCTGTTGGGCT	0.547													A	131714135	G	A	131714135	2	1	741	1	0	0	0	0	0	0	0	1	14551	1306	46	2		2	SLC22A5	5	131714135	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	71473085	131714135	49201125	14	56135											
HACE1	57531	broad.mit.edu	37	chr6	105300205	105300205	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cactcacctgtgttgatcagCcataaccattggcattaatg	11	12	7	11	0	2	1	2	1	0	0	2	1	2	1	3	1	2	2	3	1	2	4			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:105300205C>T	ENST00000262903.4	-	2	394	c.118G>A	c.(118-120)Gct>Act	p.A40T	HACE1_ENST00000369125.2_Missense_Mutation_p.A40T	NM_020771.3	NP_065822.2	Q8IYU2	HACE1_HUMAN	HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1	40					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	endoplasmic reticulum	ubiquitin-protein ligase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	44		all_cancers(87;6.89e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0216)|Colorectal(196;0.202)		BRCA - Breast invasive adenocarcinoma(108;0.122)|Epithelial(106;0.204)		TGTTGATCAGCCATAACCATT	0.393													T	105300205	C	T	105300205	3	4	741	1	0	0	0	0	1	0	0	0	6995	739	26	2	2703	2	HACE1	6	105300205	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		105300205	65814862	15	56136											
DSE	29940	broad.mit.edu	37	chr6	116720523	116720523	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agttatgattcccttcaccaAtgccaactacgacagccatc	12	10	5	14	1	1	1	1	1	0	0	3	2	2	1	4	0	4	1	4	0	4	4			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr6:116720523A>G	ENST00000331677.3	+	3	554	c.110A>G	c.(109-111)aAt>aGt	p.N37S	DSE_ENST00000537543.1_Missense_Mutation_p.N56S|DSE_ENST00000359564.2_Missense_Mutation_p.N37S|DSE_ENST00000452085.3_Missense_Mutation_p.N37S|DSE_ENST00000540275.1_3'UTR			Q9UL01	DSE_HUMAN	dermatan sulfate epimerase	37					dermatan sulfate biosynthetic process	endoplasmic reticulum|Golgi apparatus|integral to membrane	chondroitin-glucuronate 5-epimerase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35		all_cancers(87;0.00019)|all_epithelial(87;0.000416)|Ovarian(999;0.133)|Colorectal(196;0.234)		Epithelial(106;0.00915)|OV - Ovarian serous cystadenocarcinoma(136;0.0149)|GBM - Glioblastoma multiforme(226;0.0189)|all cancers(137;0.0262)		CCCTTCACCAATGCCAACTAC	0.552													G	116720523	A	G	116720523	3	3	741	1	0	0	0	0	1	0	0	0	4813	101	4	3	112	3	DSE	6	116720523	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	11420318	116720523	54394544	16	56137											
CTSB	1508	broad.mit.edu	37	chr8	11710899	11710899	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	catccgacaggggatggaaaGagggcctgctccgggcattg	9	6	16	10	2	0	1	0	0	0	1	2	4	2	3	3	5	1	2	3	5	1	1	rs144593312		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:11710899G>A	ENST00000353047.6	-	2	318	c.65C>T	c.(64-66)tCt>tTt	p.S22F	CTSB_ENST00000415599.2_Missense_Mutation_p.S22F|CTSB_ENST00000434271.1_Missense_Mutation_p.S22F|CTSB_ENST00000525076.1_5'UTR|CTSB_ENST00000345125.3_Missense_Mutation_p.S22F|CTSB_ENST00000530640.2_Missense_Mutation_p.S22F|CTSB_ENST00000531089.1_Missense_Mutation_p.S22F|CTSB_ENST00000453527.2_Missense_Mutation_p.S22F|CTSB_ENST00000534510.1_Missense_Mutation_p.S22F|CTSB_ENST00000533455.1_Missense_Mutation_p.S22F	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	22					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		GGGATGGAAAGAGGGCCTGCT	0.597													A	11710899	G	A	11710899	3	1	741	1	0	0	0	0	1	0	0	0	4063	942	33	2	990	2	CTSB	8	11710899	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		11710899	134653123	17	56138											
KCNB2	9312	broad.mit.edu	37	chr8	73849510	73849510	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccgacctcccagggacAgaagagcaccaaagagctag	15	2	10	14	1	0	3	0	0	0	3	1	5	1	4	5	1	3	2	5	1	4	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr8:73849510A>G	ENST00000523207.1	+	3	2508	c.1920A>G	c.(1918-1920)acA>acG	p.T640T		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	640					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			TCCCAGGGACAGAAGAGCACC	0.602													G	73849510	A	G	73849510	2	3	741	1	0	0	0	0	0	0	0	1	8071	175	7	3		3	KCNB2	8	73849510	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	62138611	73849510	72514512	18	56139											
CTBP2	1488	broad.mit.edu	37	chr10	126727604	126727604	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgctgtctcttgactttgTgcttatccacaagggccatt	7	15	8	11	1	1	1	0	1	1	0	4	1	2	1	2	1	1	2	2	1	2	4	rs78849795		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr10:126727604T>C	ENST00000337195.5	-	3	419	c.20A>G	c.(19-21)cAc>cGc	p.H7R	CTBP2_ENST00000494626.2_Missense_Mutation_p.H7R|CTBP2_ENST00000476817.1_5'UTR|CTBP2_ENST00000531469.1_Missense_Mutation_p.H7R|CTBP2_ENST00000411419.2_Missense_Mutation_p.H7R	NM_001329.2	NP_001320.1	P56545	CTBP2_HUMAN	C-terminal binding protein 2	7					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CTTGACTTTGTGCTTATCCAC	0.453													C	126727604	T	C	126727604	3	2	741	1	0	0	0	0	1	0	0	0	4031	1696	59	3	3035	3	CTBP2	10	126727604	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		126727604	8807143	19	56140											
COPB1	1315	broad.mit.edu	37	chr11	14515962	14515962	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactttcttcaaagcttcagTctttgactttacatctcctt	8	19	3	11	0	5	1	2	1	3	0	6	1	5	1	1	0	3	1	1	0	3	8			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:14515962T>C	ENST00000249923.3	-	3	415	c.115A>G	c.(115-117)Act>Gct	p.T39A	COPB1_ENST00000439561.2_Missense_Mutation_p.T39A|PSMA1_ENST00000419365.2_3'UTR|PSMA1_ENST00000555531.1_3'UTR	NM_016451.4	NP_057535.1	P53618	COPB_HUMAN	coatomer protein complex, subunit beta 1	39					COPI coating of Golgi vesicle|interspecies interaction between organisms|intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde vesicle-mediated transport, Golgi to ER	COPI vesicle coat|cytosol|ER-Golgi intermediate compartment|plasma membrane	protein binding|structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	36						AAAGCTTCAGTCTTTGACTTT	0.289													C	14515962	T	C	14515962	3	2	741	1	0	0	0	0	1	0	0	0	3759	1667	58	3	2826	3	COPB1	11	14515962	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		14515962	120490554	20	56141											
OR5W2	390148	broad.mit.edu	37	chr11	55681814	55681814	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttggcaagtagatctaccAgcatcttgggcccagttgca	9	11	10	11	0	3	1	0	0	3	1	3	1	3	1	2	2	3	5	2	2	3	5			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:55681814A>G	ENST00000344514.1	-	1	244	c.245T>C	c.(244-246)cTg>cCg	p.L82P		NM_001001960.1	NP_001001960.1	Q8NH69	OR5W2_HUMAN	olfactory receptor, family 5, subfamily W, member 2	82					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(28)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TAGATCTACCAGCATCTTGGG	0.433													G	55681814	A	G	55681814	3	3	741	1	0	0	0	0	1	0	0	0	11261	188	7	3	689	3	OR5W2	11	55681814	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	41165852	55681814	79324702	21	56142											
OR4D6	219983	broad.mit.edu	37	chr11	59225062	59225062	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggactggtgaccctgctctGgttcctcctgctcctgggct	2	12	12	15	1	1	1	0	1	1	0	4	2	4	2	4	4	2	4	4	4	0	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:59225062G>T	ENST00000300127.2	+	1	652	c.629G>T	c.(628-630)tGg>tTg	p.W210L		NM_001004708.1	NP_001004708.1	Q8NGJ1	OR4D6_HUMAN	olfactory receptor, family 4, subfamily D, member 6	210					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	34						ACCCTGCTCTGGTTCCTCCTG	0.552													T	59225062	G	T	59225062	3	4	741	1	0	0	0	0	1	0	0	0	11134	1357	47	4	631	4	OR4D6	11	59225062	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	3543248	59225062	75781454	22	56143											
LRRC32	2615	broad.mit.edu	37	chr11	76371945	76371945	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaggccgtctgaaaggccTcgatgctgttgcagctcagg	7	8	16	10	2	2	1	1	1	1	0	3	3	2	2	2	4	3	4	2	4	1	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr11:76371945T>G	ENST00000407242.2	-	3	934	c.692A>C	c.(691-693)gAg>gCg	p.E231A	LRRC32_ENST00000260061.5_Missense_Mutation_p.E231A|AP001189.4_ENST00000447519.1_RNA|LRRC32_ENST00000464145.1_Intron|LRRC32_ENST00000404995.1_Missense_Mutation_p.E231A	NM_005512.2	NP_005503.1	Q14392	LRC32_HUMAN	leucine rich repeat containing 32	231						integral to plasma membrane				endometrium(1)|large_intestine(3)|lung(26)|upper_aerodigestive_tract(1)	31						CTGAAAGGCCTCGATGCTGTT	0.622													G	76371945	T	G	76371945	3	3	741	1	0	0	0	0	1	0	0	0	9057	1551	54	5	1300	5	LRRC32	11	76371945	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08	17146883	76371945	58634571	23	56144											
KRT18	3875	broad.mit.edu	37	chr12	53344556	53344556	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgagacagagctggccatgCgccagtctgtggagaacgac	11	6	14	10	2	1	3	0	1	1	3	1	6	1	3	2	2	3	1	2	2	1	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:53344556C>T	ENST00000550600.1	+	4	577	c.523C>T	c.(523-525)Cgc>Tgc	p.R175C	KRT18_ENST00000388835.3_Missense_Mutation_p.R175C|KRT18_ENST00000388837.2_Missense_Mutation_p.R175C			P05783	K1C18_HUMAN	keratin 18	175	Coil 1B.|Necessary for interaction with PNN.|Rod.				anatomical structure morphogenesis|cell cycle|Golgi to plasma membrane CFTR protein transport|interspecies interaction between organisms|negative regulation of apoptosis	centriolar satellite|keratin filament|perinuclear region of cytoplasm	protein binding|structural molecule activity			central_nervous_system(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	11						GCTGGCCATGCGCCAGTCTGT	0.527													T	53344556	C	T	53344556	3	4	741	1	0	0	0	0	1	0	0	0	8513	768	27	1	533	1	KRT18	12	53344556	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		53344556	80507339	24	56145											
PTPRB	5787	broad.mit.edu	37	chr12	70956725	70956725	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcaagttctggaaagagaagCtctggactagtgggtcaact	12	9	13	7	0	3	1	1	0	2	1	3	4	3	3	0	3	2	3	0	3	5	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr12:70956725C>G	ENST00000334414.6	-	16	4111	c.4067G>C	c.(4066-4068)aGc>aCc	p.S1356T	PTPRB_ENST00000551525.1_Missense_Mutation_p.S1355T|PTPRB_ENST00000550358.1_Missense_Mutation_p.S1268T|PTPRB_ENST00000261266.5_Missense_Mutation_p.S1138T|PTPRB_ENST00000538708.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000550857.1_Missense_Mutation_p.S1048T|PTPRB_ENST00000451516.2_Missense_Mutation_p.S1048T	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1138	Fibronectin type-III 16.				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			GAAAGAGAAGCTCTGGACTAG	0.473													G	70956725	C	G	70956725	3	3	741	1	0	0	0	0	1	0	0	0	12884	797	28	4	2656	4	PTPRB	12	70956725	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	17612169	70956725	62895170	25	56146											
CARS2	79587	broad.mit.edu	37	chr13	111296777	111296777	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagtttcaaaaaactgttcAaagtaagagatgatggcacc	17	9	8	7	0	2	2	2	1	0	1	2	3	2	2	1	1	1	4	1	1	5	3			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr13:111296777A>G	ENST00000257347.4	-	13	1434	c.1371T>C	c.(1369-1371)ttT>ttC	p.F457F	CARS2_ENST00000535398.1_5'UTR	NM_024537.2	NP_078813.1	Q9HA77	SYCM_HUMAN	cysteinyl-tRNA synthetase 2, mitochondrial (putative)	457					cysteinyl-tRNA aminoacylation	cytosol|mitochondrial matrix	ATP binding|cysteine-tRNA ligase activity|metal ion binding			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)|prostate(4)|skin(1)	13	all_lung(23;3.61e-05)|Lung NSC(43;0.00144)|Lung SC(71;0.0753)|all_neural(89;0.077)|Medulloblastoma(90;0.148)		BRCA - Breast invasive adenocarcinoma(86;0.163)		L-Cysteine(DB00151)	AAAACTGTTCAAAGTAAGAGA	0.408													G	111296777	A	G	111296777	2	3	741	1	0	0	0	0	0	0	0	1	2684	127	5	3		3	CARS2	13	111296777	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		111296777	3873101	26	56147											
TEP1	7011	broad.mit.edu	37	chr14	20852762	20852762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctccctcagctcacctgCggcaggtgatccctttctgt	5	12	8	16	1	3	1	2	1	1	0	5	1	5	1	4	2	3	2	4	2	1	2	rs151250357	byFrequency	TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr14:20852762C>T	ENST00000262715.5	-	22	3258	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	TEP1_ENST00000556935.1_Missense_Mutation_p.R965H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1073					telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGCTCACCTGCGGCAGGTGAT	0.552													T	20852762	C	T	20852762	3	4	741	1	0	0	0	0	1	0	0	0	15859	768	27	1	4801	1	TEP1	14	20852762	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		20852762	86496778	27	56148											
GTF3C1	2975	broad.mit.edu	37	chr16	27503949	27503949	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ggacattacctgatctttatCctgaaacttttccgtgggac	9	14	8	10	1	1	2	0	2	1	0	3	4	3	4	3	2	2	0	3	2	3	5			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr16:27503949C>G	ENST00000356183.4	-	18	2977	c.2962G>C	c.(2962-2964)Gat>Cat	p.D988H	GTF3C1_ENST00000561623.1_Missense_Mutation_p.D988H	NM_001520.3	NP_001511.2	Q12789	TF3C1_HUMAN	general transcription factor IIIC, polypeptide 1, alpha 220kDa	988						transcription factor TFIIIC complex	DNA binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|liver(3)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	80						TGATCTTTATCCTGAAACTTT	0.488													G	27503949	C	G	27503949	3	3	741	1	0	0	0	0	1	0	0	0	6927	855	30	4	3447	4	GTF3C1	16	27503949	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08		27503949	62850804	28	56149											
TP53	7157	broad.mit.edu	37	chr17	7577115	7577115	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctctcccaggacaggcacAaacacgcacctcaaagctgt	12	6	8	15	1	2	0	1	0	1	0	4	1	3	1	2	2	2	3	2	2	2	0			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:7577115A>C	ENST00000420246.2	-	8	955	c.823T>G	c.(823-825)Tgt>Ggt	p.C275G	TP53_ENST00000455263.2_Missense_Mutation_p.C275G|TP53_ENST00000445888.2_Missense_Mutation_p.C275G|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.C275G|TP53_ENST00000359597.4_Missense_Mutation_p.C275G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	275	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 LFS; 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.0?(8)|p.C275G(7)|p.C275R(7)|p.C275fs*31(2)|p.?(2)|p.C275fs*20(1)|p.L265_K305del41(1)|p.R273_C275delRVC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C275fs*70(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GGACAGGCACAAACACGCACC	0.552		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)			C	7577115	A	C	7577115	3	2	741	1	0	0	0	0	1	0	0	0	16482	130	5	5	463	5	TP53	17	7577115	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08		7577115	73618095	29	56150											
MYH8	4626	broad.mit.edu	37	chr17	10300287	10300287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcctcagcttcttgcaggcGctgggccaactttttcctga	5	14	9	13	1	2	1	1	1	1	0	4	1	4	1	3	2	3	3	3	2	1	5			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:10300287G>A	ENST00000403437.2	-	31	4289	c.4195C>T	c.(4195-4197)Cgc>Tgc	p.R1399C	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1399					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TCTTGCAGGCGCTGGGCCAAC	0.493									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10300287	G	A	10300287	3	1	741	1	0	0	0	0	1	0	0	0	10117	1087	38	1	1658	1	MYH8	17	10300287	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	2723172	10300287	70894923	30	56151											
KRT13	3860	broad.mit.edu	37	chr17	39659673	39659673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcggcctccacgctctggcGcagggccagctcattctcat	5	9	11	16	3	3	0	2	0	2	0	6	0	4	0	3	3	1	3	3	3	0	1			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39659673G>A	ENST00000246635.3	-	3	647	c.601C>T	c.(601-603)Cgc>Tgc	p.R201C	KRT13_ENST00000587544.1_Missense_Mutation_p.R201C|KRT13_ENST00000336861.3_Missense_Mutation_p.R201C	NM_153490.2	NP_705694	P13646	K1C13_HUMAN	keratin 13	201	Coil 1B.|Rod.				epidermis development	intermediate filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(1)	33		Breast(137;0.000286)				ACGCTCTGGCGCAGGGCCAGC	0.483													A	39659673	G	A	39659673	3	1	741	1	0	0	0	0	1	0	0	0	8508	1087	38	1	799	1	KRT13	17	39659673	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	29359386	39659673	41535537	31	56152											
KRT15	3866	broad.mit.edu	37	chr17	39674590	39674590	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgaggactcaccttgtcccGgagctcttcaatggtcttga	7	11	10	13	2	4	1	2	1	2	0	5	4	5	3	3	3	1	1	3	3	1	3	rs142682445		TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:39674590G>A	ENST00000254043.3	-	1	4075	c.490C>T	c.(490-492)Cgg>Tgg	p.R164W	KRT15_ENST00000393981.3_Silent_p.S26S|KRT15_ENST00000393976.2_Missense_Mutation_p.R164W|KRT15_ENST00000393974.3_Silent_p.S26S	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	164	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				ACCTTGTCCCGGAGCTCTTCA	0.527													A	39674590	G	A	39674590	3	1	741	1	0	0	0	0	1	0	0	0	8510	1115	39	1	912	1	KRT15	17	39674590	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	14917	39674590	41520620	32	56153											
CDC27	996	broad.mit.edu	37	chr17	45234392	45234392	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgttcccagtgggacagtAtcaggtgaaattacagctga	11	10	11	9	0	1	2	1	2	0	0	2	3	2	3	2	2	2	3	2	2	3	3			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr17:45234392A>G	ENST00000066544.3	-	7	822	c.729T>C	c.(727-729)gaT>gaC	p.D243D	CDC27_ENST00000446365.2_Silent_p.D182D|CDC27_ENST00000527547.1_Silent_p.D243D|CDC27_ENST00000531206.1_Silent_p.D243D	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	243					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						GTGGGACAGTATCAGGTGAAA	0.363													G	45234392	A	G	45234392	2	3	741	1	0	0	0	0	0	0	0	1	3096	446	16	3		3	CDC27	17	45234392	Silent	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	5559802	45234392	35960818	33	56154											
SERPINB10	5273	broad.mit.edu	37	chr18	61584738	61584739	+	Frame_Shift_Ins	INS	-	-	A																															caaatgtgaccctgaaagtgINSaaaaaaaaaggaaaatggta																										TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr18:61584738_61584739insA	ENST00000238508.3	+	3	276_277	c.217_218insA	c.(217-219)gaafs	p.E73fs		NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10									p.R76fs*7(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCCTGAAAGTGAAAAAAAAAGG	0.282													A	61584739	-	A	61584738	7	5	741	1	0	1	1	0	0	0	0	0	14190	1291	45	0	223	0	SERPINB10	18	61584738	Frame_Shift_Ins	INS	-	TCGA-TM-A7C4-01A-11D-A32B-08		61584738	16492510	34	56155											
NOTCH3	4854	broad.mit.edu	37	chr19	15284920	15284920	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcccgacgggcccggggttcGgagccaggactaggccggtg	5	5	18	13	5	0	0	0	0	0	0	2	3	1	2	4	7	1	1	4	7	1	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:15284920G>A	ENST00000263388.2	-	25	4770	c.4695C>T	c.(4693-4695)tcC>tcT	p.S1565S		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	1565					Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			CCCGGGGTTCGGAGCCAGGAC	0.687													A	15284920	G	A	15284920	2	1	741	1	0	0	0	0	0	0	0	1	10626	1103	39	1		1	NOTCH3	19	15284920	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		15284920	43844063	35	56156											
ZNF101	94039	broad.mit.edu	37	chr19	19790321	19790321	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttatgaatgcaaggtgtgcGggaaagcctttaattctccc	10	12	10	9	1	1	1	0	1	1	0	2	2	1	2	2	2	3	1	2	2	5	4			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:19790321G>A	ENST00000592502.1	+	4	633	c.523G>A	c.(523-525)Ggg>Agg	p.G175R	ZNF101_ENST00000444249.2_3'UTR|ZNF101_ENST00000415784.2_Missense_Mutation_p.G55R			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	175					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						CAAGGTGTGCGGGAAAGCCTT	0.438													A	19790321	G	A	19790321	3	1	741	1	0	0	0	0	1	0	0	0	17815	1116	39	1	537	1	ZNF101	19	19790321	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	4505401	19790321	39338662	36	56157											
CCDC9	26093	broad.mit.edu	37	chr19	47774919	47774919	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccccgggtgaggcctggcCttttgagagtgtatgaagct	6	11	14	10	1	0	3	0	3	0	1	1	4	1	3	4	3	1	2	4	3	2	3			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr19:47774919C>T	ENST00000221922.6	+	12	1802	c.1580C>T	c.(1579-1581)cCt>cTt	p.P527L		NM_015603.2	NP_056418.1	Q9Y3X0	CCDC9_HUMAN	coiled-coil domain containing 9	527										endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(2)|ovary(1)|pancreas(1)|urinary_tract(1)	12		all_cancers(25;0.0432)|all_epithelial(76;0.00812)|Medulloblastoma(540;0.0208)|all_neural(266;0.0416)|Hepatocellular(1079;0.114)		OV - Ovarian serous cystadenocarcinoma(262;8.51e-95)|Epithelial(262;1.15e-92)|all cancers(93;7.67e-84)|GBM - Glioblastoma multiforme(486;0.024)|STAD - Stomach adenocarcinoma(1328;0.183)		GAGGCCTGGCCTTTTGAGAGT	0.652													T	47774919	C	T	47774919	3	4	741	1	0	0	0	0	1	0	0	0	2895	681	24	2	1622	2	CCDC9	19	47774919	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	27984598	47774919	11354064	37	56158											
TP53TG5	27296	broad.mit.edu	37	chr20	44004019	44004019	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggcattgccgccaatgacGttttctccttgttcctcatc	5	15	8	13	2	2	1	1	1	1	0	5	1	3	1	4	1	1	3	4	1	1	5			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chr20:44004019G>A	ENST00000372726.3	-	4	584	c.428C>T	c.(427-429)aCg>aTg	p.T143M	TP53TG5_ENST00000537995.1_Missense_Mutation_p.T127M|SYS1-DBNDD2_ENST00000475242.1_Intron|SYS1-DBNDD2_ENST00000452133.1_Intron|SYS1_ENST00000426004.1_3'UTR	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	143					intracellular signal transduction|negative regulation of cell growth	cytoplasm|nucleus				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						CGCCAATGACGTTTTCTCCTT	0.502													A	44004019	G	A	44004019	3	1	741	1	0	0	0	0	1	0	0	0	16492	1145	40	1	452	1	TP53TG5	20	44004019	Missense_Mutation	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08		44004019	19021501	38	56159											
NHS	4810	broad.mit.edu	37	chrX	17750478	17750478	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagccgctacagtgTccgctgccggctgtacaata	9	7	11	14	3	0	0	0	0	0	0	1	0	1	0	3	1	6	6	3	1	4	3			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:17750478T>C	ENST00000380060.3	+	8	5125	c.4787T>C	c.(4786-4788)gTc>gCc	p.V1596A	NHS_ENST00000398097.3_Missense_Mutation_p.V1440A	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1596						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CGCTACAGTGTCCGCTGCCGG	0.587													C	17750478	T	C	17750478	3	2	741	1	0	0	0	0	1	0	0	0	10487	1667	58	3	4922	3	NHS	23	17750478	Missense_Mutation	SNP	T	TCGA-TM-A7C4-01A-11D-A32B-08		17750478	137520082	39	56160											
CDKL5	6792	broad.mit.edu	37	chrX	18600037	18600037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccagaaaatctcttaatcAgccacaatgatgtcctaaaa	18	9	4	10	0	2	2	1	1	1	1	4	2	3	2	3	0	2	0	3	0	7	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:18600037A>G	ENST00000379989.3	+	8	715	c.430A>G	c.(430-432)Agc>Ggc	p.S144G	CDKL5_ENST00000379996.3_Missense_Mutation_p.S144G	NM_001037343.1	NP_001032420.1	O76039	CDKL5_HUMAN	cyclin-dependent kinase-like 5	144	Protein kinase.				neuron migration|positive regulation of axon extension|positive regulation of dendrite morphogenesis|positive regulation of Rac GTPase activity|protein autophosphorylation	dendrite cytoplasm|dendritic growth cone|nucleus	ATP binding|cyclin-dependent protein kinase activity|Rac GTPase binding			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|skin(5)|stomach(1)	44	Hepatocellular(33;0.183)					TCTCTTAATCAGCCACAATGA	0.303													G	18600037	A	G	18600037	3	3	741	1	0	0	0	0	1	0	0	0	3187	188	7	3	452	3	CDKL5	23	18600037	Missense_Mutation	SNP	A	TCGA-TM-A7C4-01A-11D-A32B-08	849559	18600037	136670523	40	56161											
CLCN5	1184	broad.mit.edu	37	chrX	49851229	49851229	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtcggaagcgaaagaccaCccagttgggcaagtatcctg	11	7	13	10	2	0	1	0	0	0	1	2	3	1	2	3	2	1	3	3	2	4	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:49851229C>T	ENST00000376088.3	+	11	1900	c.1259C>T	c.(1258-1260)aCc>aTc	p.T420I	CLCN5_ENST00000376091.3_Missense_Mutation_p.T420I|CLCN5_ENST00000376108.3_Missense_Mutation_p.T350I|CLCN5_ENST00000307367.2_Missense_Mutation_p.T350I	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	350					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					CGAAAGACCACCCAGTTGGGC	0.512													T	49851229	C	T	49851229	3	4	741	1	0	0	0	0	1	0	0	0	3497	507	18	2	1293	2	CLCN5	23	49851229	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	31251192	49851229	105419331	41	56162											
ATRX	546	broad.mit.edu	37	chrX	76920261	76920261	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttctaaaagcatcttcttGgcaattcttgagagtaaaaa	14	14	6	7	0	5	1	0	1	5	1	5	2	5	1	0	1	1	3	0	1	6	7			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76920261G>T	ENST00000373344.5	-	11	4030	c.3816C>A	c.(3814-3816)gcC>gcA	p.A1272A	ATRX_ENST00000395603.3_Silent_p.A1234A|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1272					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)	GCATCTTCTTGGCAATTCTTG	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76920261	G	T	76920261	2	4	741	1	0	0	0	0	0	0	0	1	1213	1335	47	4		4	ATRX	23	76920261	Silent	SNP	G	TCGA-TM-A7C4-01A-11D-A32B-08	27069032	76920261	78350299	42	56163											
ATRX	546	broad.mit.edu	37	chrX	76940430	76940430	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagctcatctatattacctaCctacattgttcatccattcc	10	16	2	13	0	3	0	2	0	1	0	5	0	5	0	4	0	4	2	4	0	6	9			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:76940430C>T	ENST00000373344.5	-	8	877		c.e8+1		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	ATATTACCTACCTACATTGTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76940430	C	T	76940430	5	4	741	1	0	0	0	0	0	0	1	0	1213	521	18	2	6927	2	ATRX	23	76940430	Splice_Site	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	20169	76940430	78330130	43	56164											
RPS6KA6	27330	broad.mit.edu	37	chrX	83442862	83442862	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gccgccgccgctgaacacttCcatttctcggtcccagggct	5	9	10	17	4	1	1	0	1	1	0	4	1	3	1	5	2	1	2	5	2	1	2			TCGA-TM-A7C4-01A-11D-A32B-08	TCGA-TM-A7C4-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ce598820-dfa5-4bd2-b776-f805cc61c235	bc73cf39-3071-41de-9dbc-de49be538b78	g.chrX:83442862C>G	ENST00000262752.2	-	1	53	c.46G>C	c.(46-48)Gaa>Caa	p.E16Q	RPS6KA6_ENST00000543399.1_5'UTR	NM_014496.4	NP_055311.1	Q9UK32	KS6A6_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 6	16					axon guidance|central nervous system development|intracellular protein kinase cascade|synaptic transmission	cytosol|nucleoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(26)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	46						CTGAACACTTCCATTTCTCGG	0.667													G	83442862	C	G	83442862	3	3	741	1	0	0	0	0	1	0	0	0	13746	864	30	4	2279	4	RPS6KA6	23	83442862	Missense_Mutation	SNP	C	TCGA-TM-A7C4-01A-11D-A32B-08	6502432	83442862	71827698	44	56165											
SLC35A3	23443	broad.mit.edu	37	chr1	100477024	100477024	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tttttcaagtggctttgctgGggtttactttgagaaaatct	8	18	10	5	0	2	1	1	1	1	1	2	2	2	1	0	3	2	3	0	3	4	6			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:100477024G>A	ENST00000465289.1	+	5	961	c.569G>A	c.(568-570)gGg>gAg	p.G190E	SLC35A3_ENST00000370153.1_Missense_Mutation_p.G232E|SLC35A3_ENST00000427993.2_Missense_Mutation_p.G190E|SLC35A3_ENST00000370156.3_3'UTR|SLC35A3_ENST00000370155.3_Missense_Mutation_p.G190E	NM_001271684.1	NP_001258613.1	Q9Y2D2	S35A3_HUMAN	solute carrier family 35 (UDP-N-acetylglucosamine (UDP-GlcNAc) transporter), member A3	190					UDP-N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	sugar:hydrogen symporter activity|UDP-N-acetylglucosamine transmembrane transporter activity	p.G190E(1)		biliary_tract(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	11		all_epithelial(167;0.000686)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.124)|all cancers(265;0.198)|Lung(183;0.199)		GGCTTTGCTGGGGTTTACTTT	0.338													A	100477024	G	A	100477024	3	1	742	1	0	0	0	0	1	0	0	0	14666	1232	43	2	583	2	SLC35A3	1	100477024	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		100477024	148773597	1	56166											
FMN2	56776	broad.mit.edu	37	chr1	240371406	240371406	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggagcgggcatacccccTccgccccctctacccggagt	5	5	10	21	4	1	0	0	0	1	0	2	2	2	2	7	3	3	1	7	3	2	2			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr1:240371406T>A	ENST00000319653.9	+	5	3524	c.3294T>A	c.(3292-3294)ccT>ccA	p.P1098P		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1098	FH1.|Pro-rich.				actin cytoskeleton organization|establishment of meiotic spindle localization|intracellular signal transduction|meiotic chromosome movement towards spindle pole|meiotic metaphase I|multicellular organismal development|oogenesis|polar body extrusion after meiotic divisions		actin binding			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			GCATACCCCCTCCGCCCCCTC	0.731													A	240371406	T	A	240371406	2	1	742	1	0	0	0	0	0	0	0	1	5999	1538	54	5		5	FMN2	1	240371406	Silent	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08	139894382	240371406	8879215	2	56167											
LCT	3938	broad.mit.edu	37	chr2	136569943	136569943	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaggaatcatcaaagagaTtttcactttcccctatgggc	12	13	7	9	0	3	1	3	0	0	1	4	3	4	2	2	2	0	0	2	2	4	5			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:136569943T>A	ENST00000264162.2	-	7	2301	c.2291A>T	c.(2290-2292)aAt>aTt	p.N764I		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	764	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCAAAGAGATTTTCACTTTC	0.433													A	136569943	T	A	136569943	3	1	742	1	0	0	0	0	1	0	0	0	8752	1493	52	5	3536	5	LCT	2	136569943	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08		136569943	106629430	3	56168											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	742	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	72543169	209113112	34086261	4	56169											
XRCC5	7520	broad.mit.edu	37	chr2	216977761	216977761	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctgttgtgctgtgtatggAcgtgggctttaccatgagta	7	14	14	6	1	0	1	0	1	0	0	0	2	0	2	1	2	3	6	1	2	3	5			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:216977761A>G	ENST00000392133.3	+	4	505	c.44A>G	c.(43-45)gAc>gGc	p.D15G	XRCC5_ENST00000392132.2_Missense_Mutation_p.D15G			P13010	XRCC5_HUMAN	X-ray repair complementing defective repair in Chinese hamster cells 5 (double-strand-break rejoining)	15				MDV -> YSY (in Ref. 10; AA sequence).	double-strand break repair via nonhomologous end joining|initiation of viral infection|negative regulation of transcription, DNA-dependent|provirus integration|telomere maintenance|transcription, DNA-dependent	Ku70:Ku80 complex|nonhomologous end joining complex|nuclear telomere cap complex|nucleoplasm	ATP binding|ATP-dependent DNA helicase activity|double-stranded DNA binding|protein C-terminus binding|telomeric DNA binding|transcription regulatory region DNA binding			endometrium(1)|kidney(3)|large_intestine(8)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Renal(323;0.0328)		Epithelial(149;9.78e-06)|all cancers(144;0.000632)|LUSC - Lung squamous cell carcinoma(224;0.00871)|Lung(261;0.0117)		CTGTGTATGGACGTGGGCTTT	0.408								Non-homologous end-joining					G	216977761	A	G	216977761	3	3	742	1	0	0	0	0	1	0	0	0	17558	275	10	3	50	3	XRCC5	2	216977761	Missense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	7864649	216977761	26221612	5	56170											
COL4A4	1286	broad.mit.edu	37	chr2	227886828	227886828	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggtcctctcatgcctggCgccccaggaaggcctgggat	5	9	13	14	1	2	0	1	0	2	0	4	2	3	2	5	5	1	0	5	5	1	0	rs75398993	by1000genomes	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr2:227886828C>T	ENST00000396625.3	-	44	4359	c.4152G>A	c.(4150-4152)gcG>gcA	p.A1384A	COL4A4_ENST00000329662.7_Silent_p.A1381A	NM_000092.4	NP_000083.3	P53420	CO4A4_HUMAN	collagen, type IV, alpha 4	1384	Triple-helical region.				axon guidance|glomerular basement membrane development	basal lamina|collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(15)|lung(35)|ovary(5)|pancreas(3)|prostate(2)|skin(12)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	98		Renal(207;0.00844)|all_lung(227;0.0187)|Lung NSC(271;0.0879)|all_hematologic(139;0.21)|Esophageal squamous(248;0.242)		Epithelial(121;6.7e-11)|all cancers(144;5.39e-08)|Lung(261;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0181)		TCATGCCTGGCGCCCCAGGAA	0.567													T	227886828	C	T	227886828	2	4	742	1	0	0	0	0	0	0	0	1	3724	755	27	1		1	COL4A4	2	227886828	Silent	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	10909067	227886828	15312545	6	56171											
RTP3	83597	broad.mit.edu	37	chr3	46542360	46542360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtcattctcattgttatcGtggtgattgttgtaaaaact	9	18	9	5	1	2	1	2	1	1	0	4	1	2	1	0	1	1	3	0	1	4	6			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr3:46542360G>A	ENST00000296142.3	+	2	1242	c.670G>A	c.(670-672)Gtg>Atg	p.V224M		NM_031440.1	NP_113628.1	Q9BQQ7	RTP3_HUMAN	receptor (chemosensory) transporter protein 3	224					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			endometrium(1)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	10				BRCA - Breast invasive adenocarcinoma(193;0.00114)|KIRC - Kidney renal clear cell carcinoma(197;0.0173)|Kidney(197;0.0204)		CATTGTTATCGTGGTGATTGT	0.378													A	46542360	G	A	46542360	3	1	742	1	0	0	0	0	1	0	0	0	13826	1145	40	1	676	1	RTP3	3	46542360	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		46542360	151480070	7	56172											
METTL14	57721	broad.mit.edu	37	chr4	119626790	119626790	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actgcctcatggggatcaaaGgaactgtgaagcgtagcaca	13	7	12	9	1	2	1	2	1	0	0	2	3	2	3	1	3	4	2	1	3	4	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr4:119626790G>A	ENST00000388822.5	+	10	1047	c.880G>A	c.(880-882)Gga>Aga	p.G294R	METTL14_ENST00000506780.1_Missense_Mutation_p.G256R			Q9HCE5	MTL14_HUMAN	methyltransferase like 14							nucleus	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity			endometrium(3)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|stomach(1)	16						GGGGATCAAAGGAACTGTGAA	0.388													A	119626790	G	A	119626790	3	1	742	1	0	0	0	0	1	0	0	0	9573	1001	35	2	918	2	METTL14	4	119626790	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		119626790	71527486	8	56173											
SLC12A7	10723	broad.mit.edu	37	chr5	1057736	1057736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccgccgcggtgtgggacGcggtgttcctgtcgtggatc	2	10	17	12	6	0	0	0	0	0	0	3	2	1	2	3	4	1	1	3	4	0	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:1057736G>A	ENST00000264930.5	-	22	2919	c.2876C>T	c.(2875-2877)gCg>gTg	p.A959V		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	959					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)	GGTGTGGGACGCGGTGTTCCT	0.662													A	1057736	G	A	1057736	3	1	742	1	0	0	0	0	1	0	0	0	14482	1087	38	1	387	1	SLC12A7	5	1057736	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		1057736	179857524	9	56174											
HOMER1	9456	broad.mit.edu	37	chr5	78752755	78752755	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaaataagacacagtaactGcatgcttgctggtgggtacc	13	9	11	8	0	0	2	0	0	0	2	0	2	0	2	1	2	5	5	1	2	4	4			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:78752755G>A	ENST00000334082.6	-	2	1534	c.92C>T	c.(91-93)gCa>gTa	p.A31V	HOMER1_ENST00000282260.6_Missense_Mutation_p.A31V|HOMER1_ENST00000535690.1_Intron|HOMER1_ENST00000508576.1_Missense_Mutation_p.A31V	NM_004272.3	NP_004263.1	Q86YM7	HOME1_HUMAN	homer homolog 1 (Drosophila)	31	WH1.				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic density|postsynaptic membrane				endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|prostate(2)|skin(1)	14		Lung NSC(167;0.00131)|all_lung(232;0.00151)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.87e-44)|Epithelial(54;7.07e-41)|all cancers(79;5.5e-36)		CACAGTAACTGCATGCTTGCT	0.423													A	78752755	G	A	78752755	3	1	742	1	0	0	0	0	1	0	0	0	7333	1319	46	2	1004	2	HOMER1	5	78752755	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	77695019	78752755	102162505	10	56175											
NR2F1	7025	broad.mit.edu	37	chr5	92929289	92929289	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgcctgtggcctgtcggatgCggcccacatcgagagcctgc	5	7	14	15	4	0	1	0	0	0	1	2	3	0	2	4	3	3	0	4	3	0	0			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:92929289C>T	ENST00000327111.3	+	3	2700	c.1013C>T	c.(1012-1014)gCg>gTg	p.A338V	NR2F1_ENST00000506162.1_3'UTR	NM_005654.4	NP_005645.1	P10589	COT1_HUMAN	nuclear receptor subfamily 2, group F, member 1	338					negative regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	ligand-regulated transcription factor activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|large_intestine(6)|lung(2)|ovary(3)|prostate(1)|skin(1)|urinary_tract(2)	21		all_cancers(142;1.62e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0126)|Lung NSC(167;0.0155)|Ovarian(174;0.0218)|Prostate(281;0.173)|Colorectal(57;0.19)		UCEC - Uterine corpus endometrioid carcinoma (5;0.0416)|all cancers(79;9.57e-18)		CTGTCGGATGCGGCCCACATC	0.592													T	92929289	C	T	92929289	3	4	742	1	0	0	0	0	1	0	0	0	10703	768	27	1	1023	1	NR2F1	5	92929289	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08	14176534	92929289	87985971	11	56176											
FAM172A	83989	broad.mit.edu	37	chr5	93386527	93386527	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccccagtttttatgtgtcttAactgtccctctaagaagata	10	15	6	10	0	2	2	0	0	2	2	3	2	3	2	3	0	1	1	3	0	5	6			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:93386527A>C	ENST00000395965.3	-	4	360	c.218T>G	c.(217-219)tTa>tGa	p.L73*	FAM172A_ENST00000504768.2_5'UTR|FAM172A_ENST00000505869.1_Nonsense_Mutation_p.L27*|FAM172A_ENST00000509739.1_Intron|FAM172A_ENST00000509163.1_Nonsense_Mutation_p.L27*	NM_032042.5	NP_114431.2	Q8WUF8	F172A_HUMAN	family with sequence similarity 172, member A	73						endoplasmic reticulum|extracellular region				endometrium(2)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	9						TATGTGTCTTAACTGTCCCTC	0.328													C	93386527	A	C	93386527	4	2	742	1	0	0	0	0	0	1	0	0	5537	372	13	5	1064	5	FAM172A	5	93386527	Nonsense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	457238	93386527	87528733	12	56177											
PCDHGB4	8641	broad.mit.edu	37	chr5	140769051	140769051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aactcacactgcaggcccgcGaccagggctcgccagcgctc	8	4	11	18	4	1	0	1	0	0	0	3	1	1	0	3	2	3	3	3	2	1	0			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr5:140769051G>A	ENST00000519479.1	+	1	1600	c.1600G>A	c.(1600-1602)Gac>Aac	p.D534N	PCDHGB1_ENST00000523390.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1														endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGCCCGCGACCAGGGCTC	0.682													A	140769051	G	A	140769051	3	1	742	1	0	0	0	0	1	0	0	0	11641	1058	37	1	1602	1	PCDHGB4	5	140769051	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	47382524	140769051	40146209	13	56178											
HIST1H2BB	3018	broad.mit.edu	37	chr6	26043725	26043725	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccatggccttggatgagatgCcggtgtcggggtggacctgc	5	9	17	10	2	0	1	0	1	0	1	1	4	0	3	4	6	2	0	4	6	0	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26043725C>T	ENST00000357905.2	-	1	160	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_021062.2	NP_066406.1	P33778	H2B1B_HUMAN	histone cluster 1, H2bb	54					nucleosome assembly	nucleosome|nucleus	DNA binding			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)	7						GGATGAGATGCCGGTGTCGGG	0.547													T	26043725	C	T	26043725	3	4	742	1	0	0	0	0	1	0	0	0	7196	739	26	2	223	2	HIST1H2BB	6	26043725	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		26043725	145071342	14	56179											
HIST1H1E	3008	broad.mit.edu	37	chr6	26156983	26156984	+	Frame_Shift_Del	DEL	AG	AG	-																															agccaagcctaaggctaaaaAggcaggcgcggccaaggcca																										TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:26156983_26156984delAG	ENST00000304218.3	+	1	425_426	c.365_366delAG	c.(364-366)aagfs	p.K122fs		NM_005321.2	NP_005312.1	P10412	H14_HUMAN	histone cluster 1, H1e	122					nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			NS(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|liver(1)|lung(9)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	26						AAGGCTAAAAAGGCAGGCGCGG	0.639													-	26156984	AG	-	26156983	7	5	742	1	0	1	0	1	0	0	0	0	7181	72	3	0	367	0	HIST1H1E	6	26156983	Frame_Shift_Del	DEL	AG	TCGA-TM-A7C5-01A-11D-A32B-08	113258	26156983	144958084	15	56180											
NDUFAF4	29078	broad.mit.edu	37	chr6	97344686	97344686	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacgacagcagcttttcAtctttacgagcaatctctcc	12	11	6	12	2	3	1	1	0	2	1	5	3	4	1	1	0	5	3	1	0	3	4			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:97344686A>T	ENST00000316149.7	-	2	253	c.174T>A	c.(172-174)gaT>gaA	p.D58E	NDUFAF4_ENST00000489477.1_5'UTR	NM_014165.3	NP_054884.1	Q9P032	NDUF4_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 4	58					mitochondrial respiratory chain complex I assembly	mitochondrial membrane	calmodulin binding			large_intestine(5)|lung(3)|ovary(1)|skin(1)	10						GCAGCTTTTCATCTTTACGAG	0.333													T	97344686	A	T	97344686	3	4	742	1	0	0	0	0	1	0	0	0	10353	214	8	5	361	5	NDUFAF4	6	97344686	Missense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08	71187703	97344686	73770381	16	56181											
UTRN	7402	broad.mit.edu	37	chr6	144835835	144835835	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctccaggttgaaaatgtccGcgatcaagcccttattttga	10	12	8	11	2	1	2	1	2	0	0	3	3	3	2	4	1	1	1	4	1	4	4	rs115466543	by1000genomes	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr6:144835835G>A	ENST00000367545.3	+	36	5123	c.5123G>A	c.(5122-5124)cGc>cAc	p.R1708H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	1708	Interaction with SYNM.				muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		GAAAATGTCCGCGATCAAGCC	0.413													A	144835835	G	A	144835835	3	1	742	1	0	0	0	0	1	0	0	0	17205	1087	38	1	5265	1	UTRN	6	144835835	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	47491149	144835835	26279232	17	56182											
CRHR2	1395	broad.mit.edu	37	chr7	30693212	30693212	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acctcttcctcacggctgagCgcacctgtggggaaggcaga	8	7	13	13	2	2	2	1	1	1	1	3	3	3	3	3	4	1	3	3	4	1	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:30693212C>T	ENST00000471646.1	-	12	1517	c.1100G>A	c.(1099-1101)cGc>cAc	p.R367H	CRHR2_ENST00000506074.2_3'UTR|CRHR2_ENST00000341843.4_Missense_Mutation_p.R353H|CRHR2_ENST00000348438.4_Missense_Mutation_p.R394H	NM_001202482.1|NM_001202483.1|NM_001883.4	NP_001189411.1|NP_001189412.1|NP_001874.2	Q13324	CRFR2_HUMAN	corticotropin releasing hormone receptor 2	367					G-protein signaling, coupled to cAMP nucleotide second messenger	integral to plasma membrane	corticotrophin-releasing factor receptor activity|protein binding	p.R367H(1)		breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CACGGCTGAGCGCACCTGTGG	0.642													T	30693212	C	T	30693212	3	4	742	1	0	0	0	0	1	0	0	0	3903	768	27	1	139	1	CRHR2	7	30693212	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		30693212	128445451	18	56183											
EPHB4	2050	broad.mit.edu	37	chr7	100421309	100421309	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aggctggcgtgagggccgtgGccgtgtccgcatcgctctca	4	8	16	13	5	1	1	1	1	1	0	4	1	2	1	3	4	0	3	3	4	0	0			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr7:100421309G>T	ENST00000358173.3	-	3	836	c.368C>A	c.(367-369)gCc>gAc	p.A123D	EPHB4_ENST00000477446.1_5'UTR|EPHB4_ENST00000360620.3_Missense_Mutation_p.A123D	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	123					cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					GAGGGCCGTGGCCGTGTCCGC	0.647													T	100421309	G	T	100421309	3	4	742	1	0	0	0	0	1	0	0	0	5218	1203	42	4	2655	4	EPHB4	7	100421309	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	69728097	100421309	58717354	19	56184											
TOX	9760	broad.mit.edu	37	chr8	59750659	59750659	+	Nonsense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgtttttgctcttctcctAaaccgtcccacattgaagcc	7	14	5	15	1	2	1	0	1	2	0	4	1	3	1	5	0	3	2	5	0	3	5			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr8:59750659A>C	ENST00000361421.1	-	5	1125	c.905T>G	c.(904-906)tTa>tGa	p.L302*		NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	302						nucleus	DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				CTCTTCTCCTAAACCGTCCCA	0.483													C	59750659	A	C	59750659	4	2	742	1	0	0	0	0	0	1	0	0	16478	372	13	5	695	5	TOX	8	59750659	Nonsense_Mutation	SNP	A	TCGA-TM-A7C5-01A-11D-A32B-08		59750659	86613363	20	56185											
SHC3	53358	broad.mit.edu	37	chr9	91727511	91727511	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actgaagtcaagagacctcaTtgagcgcagaacttcaatgc	14	8	9	10	1	3	4	3	2	0	2	3	5	3	4	1	0	3	1	1	0	4	2			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:91727511T>C	ENST00000375835.4	-	2	811	c.505A>G	c.(505-507)Atg>Gtg	p.M169V	SHC3_ENST00000375830.1_5'UTR	NM_016848.5	NP_058544.3	Q92529	SHC3_HUMAN	SHC (Src homology 2 domain containing) transforming protein 3	169	PID.				central nervous system development|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	protein binding|signal transducer activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(13)|skin(3)	28						AGAGACCTCATTGAGCGCAGA	0.413													C	91727511	T	C	91727511	3	2	742	1	0	0	0	0	1	0	0	0	14366	1493	52	3	1323	3	SHC3	9	91727511	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08		91727511	49485920	21	56186											
PALM2-AKAP2	445815	broad.mit.edu	37	chr9	112918685	112918685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagcccctgaagaggctgccGgaacccagcggcccaagaat	11	4	12	14	2	0	3	0	1	0	2	0	4	0	4	5	3	4	1	5	3	5	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:112918685G>A	ENST00000374530.3	+	9	3262	c.3082G>A	c.(3082-3084)Gga>Aga	p.G1028R	AKAP2_ENST00000434623.2_Missense_Mutation_p.G886R|PALM2-AKAP2_ENST00000302798.7_Missense_Mutation_p.G1028R|AKAP2_ENST00000555236.1_Missense_Mutation_p.G1028R|AKAP2_ENST00000510514.5_Missense_Mutation_p.G1028R|AKAP2_ENST00000374525.1_Missense_Mutation_p.G886R|AKAP2_ENST00000482335.1_Intron|AKAP2_ENST00000259318.7_Missense_Mutation_p.G797R	NM_007203.4|NM_147150.2	NP_009134.1|NP_671492.1	Q9Y2D5	AKAP2_HUMAN		797							enzyme binding			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(7)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	44						AGAGGCTGCCGGAACCCAGCG	0.507													A	112918685	G	A	112918685	3	1	742	1	0	0	0	0	1	0	0	0	11486	1117	39	1	3116	1	PALM2-AKAP2	9	112918685	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	21191174	112918685	28294746	22	56187											
SVEP1	79987	broad.mit.edu	37	chr9	113238566	113238566	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccagtctgcagtcaatGtcctctgcatcactacaaaa	11	11	5	14	0	4	0	2	0	2	0	7	0	7	0	3	0	3	2	3	0	4	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr9:113238566G>A	ENST00000401783.2	-	14	2853	c.2517C>T	c.(2515-2517)gaC>gaT	p.D839D	SVEP1_ENST00000374469.1_Silent_p.D816D|SVEP1_ENST00000374461.1_Silent_p.D816D|SVEP1_ENST00000302728.8_Silent_p.D839D|SVEP1_ENST00000467821.1_5'UTR	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	839					cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TGCAGTCAATGTCCTCTGCAT	0.373													A	113238566	G	A	113238566	2	1	742	1	0	0	0	0	0	0	0	1	15516	1368	48	2		2	SVEP1	9	113238566	Silent	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	319881	113238566	27974865	23	56188											
LATS2	26524	broad.mit.edu	37	chr13	21557518	21557518	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactctcaatggccaaaGtcagctctgcgatgtagaac	12	8	10	11	1	3	1	2	0	2	1	4	3	3	2	1	2	3	2	1	2	4	1			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr13:21557518G>A	ENST00000382592.4	-	5	2732	c.2327C>T	c.(2326-2328)aCt>aTt	p.T776I	LATS2_ENST00000542899.1_Missense_Mutation_p.T776I	NM_014572.2	NP_055387.2	Q9NRM7	LATS2_HUMAN	large tumor suppressor kinase 2	776	Protein kinase.				cell division|G1/S transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|intracellular protein kinase cascade|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity	microtubule organizing center|nucleus|spindle pole	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(2)	45		all_cancers(29;4.74e-22)|all_epithelial(30;1.45e-18)|all_lung(29;4.69e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000781)|Epithelial(112;0.00144)|OV - Ovarian serous cystadenocarcinoma(117;0.0183)|Lung(94;0.0375)|LUSC - Lung squamous cell carcinoma(192;0.104)		AATGGCCAAAGTCAGCTCTGC	0.502													A	21557518	G	A	21557518	3	1	742	1	0	0	0	0	1	0	0	0	8706	1029	36	2	955	2	LATS2	13	21557518	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		21557518	93612360	24	56189											
ZFP36L1	677	broad.mit.edu	37	chr14	69256928	69256928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cacagctccgtcttgtagcgGctggagttgacctggccgcc	5	9	13	14	3	1	1	0	1	1	0	2	2	2	2	4	3	2	4	4	3	1	3			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr14:69256928G>A	ENST00000439696.2	-	2	640	c.339C>T	c.(337-339)agC>agT	p.S113S	ZFP36L1_ENST00000555997.1_3'UTR|ZFP36L1_ENST00000336440.3_Silent_p.S113S	NM_001244701.1|NM_004926.3	NP_001231630.1|NP_004917.2	Q07352	TISB_HUMAN	ZFP36 ring finger protein-like 1	113					regulation of mRNA stability	cytosol|nucleus	DNA binding|mRNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|kidney(1)|large_intestine(1)|liver(2)|lung(9)|ovary(1)|prostate(2)|urinary_tract(1)	21				all cancers(60;0.00203)|BRCA - Breast invasive adenocarcinoma(234;0.00205)|OV - Ovarian serous cystadenocarcinoma(108;0.0401)		TCTTGTAGCGGCTGGAGTTGA	0.672											OREG0022753	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	69256928	G	A	69256928	2	1	742	1	0	0	0	0	0	0	0	1	17747	1194	42	2		2	ZFP36L1	14	69256928	Silent	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		69256928	38092612	25	56190											
MAP1A	4130	broad.mit.edu	37	chr15	43819305	43819305	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	actcctgcacccttctcttgGggcacagccgagtatgacag	8	9	10	14	1	1	1	0	1	1	0	3	2	2	1	3	2	2	3	3	2	1	3			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:43819305G>A	ENST00000382031.1	+	5	6379	c.6348G>A	c.(6346-6348)tgG>tgA	p.W2116*	MAP1A_ENST00000300231.5_Nonsense_Mutation_p.W1878*|MAP1A_ENST00000399453.1_Nonsense_Mutation_p.W1878*			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1878						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CCTTCTCTTGGGGCACAGCCG	0.662													A	43819305	G	A	43819305	4	1	742	1	0	0	0	0	0	1	0	0	9302	1241	43	2	5636	2	MAP1A	15	43819305	Nonsense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		43819305	58712087	26	56191											
CIB1	10519	broad.mit.edu	37	chr15	90774627	90774627	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgggacttgatgtctggcGtggctgtgtcactgaacaca	9	11	13	8	1	2	2	1	2	1	0	2	3	2	3	0	3	1	1	0	3	2	1	rs147405990	byFrequency	TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr15:90774627G>A	ENST00000328649.6	-	4	469	c.308C>T	c.(307-309)aCg>aTg	p.T103M		NM_006384.3	NP_006375.2	Q99828	CIB1_HUMAN	calcium and integrin binding 1 (calmyrin)	103	EF-hand 1.				apoptosis|cell adhesion|double-strand break repair	apical plasma membrane|endoplasmic reticulum|filopodium|nucleoplasm	calcium ion binding|protein binding			lung(1)|prostate(1)	2	Melanoma(11;0.00551)|Lung NSC(78;0.0141)|all_lung(78;0.0303)		BRCA - Breast invasive adenocarcinoma(143;0.00269)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.217)			GATGTCTGGCGTGGCTGTGTC	0.572													A	90774627	G	A	90774627	3	1	742	1	0	0	0	0	1	0	0	0	3450	1145	40	1	283	1	CIB1	15	90774627	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	46955322	90774627	11756765	27	56192											
VWA3A	146177	broad.mit.edu	37	chr16	22161160	22161160	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtcatggcaggacacgctgGtggagaccacagatgcagcg	11	5	15	10	2	1	2	1	0	0	2	1	4	1	3	1	4	2	3	1	4	0	0			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr16:22161160G>A	ENST00000389397.4	+	30	3205	c.343G>A	c.(343-345)Gtg>Atg	p.V115M	VWA3A_ENST00000389398.5_Missense_Mutation_p.V1013M|VWA3A_ENST00000563755.1_Missense_Mutation_p.V115M			A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	1013						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGACACGCTGGTGGAGACCAC	0.557													A	22161160	G	A	22161160	3	1	742	1	0	0	0	0	1	0	0	0	17342	1261	44	2	3151	2	VWA3A	16	22161160	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08		22161160	68193593	28	56193											
CPAMD8	27151	broad.mit.edu	37	chr19	17015067	17015067	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagcccccaagtgcatttCgctgctgggacagccacttc	9	8	10	14	1	0	1	0	0	0	1	2	2	0	2	3	1	4	3	3	1	2	2			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:17015067C>T	ENST00000443236.1	-	32	4392	c.4361G>A	c.(4360-4362)cGa>cAa	p.R1454Q		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1407						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						AAGTGCATTTCGCTGCTGGGA	0.652													T	17015067	C	T	17015067	3	4	742	1	0	0	0	0	1	0	0	0	3826	884	31	1	1481	1	CPAMD8	19	17015067	Missense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		17015067	42113916	29	56194											
CIC	23152	broad.mit.edu	37	chr19	42791869	42791869	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagcagaagtaccacgaccTggccttccaggtaacgctgt	11	7	11	12	2	0	1	0	0	0	1	1	3	1	1	4	2	3	4	4	2	4	3			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr19:42791869T>C	ENST00000572681.2	+	6	3550	c.3482T>C	c.(3481-3483)cTg>cCg	p.L1161P	CIC_ENST00000575354.2_Missense_Mutation_p.L252P|CIC_ENST00000160740.3_Missense_Mutation_p.L252P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	252	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TACCACGACCTGGCCTTCCAG	0.617			"Mis, F, S"		oligodendroglioma								C	42791869	T	C	42791869	3	2	742	1	0	0	0	0	1	0	0	0	3454	1580	55	3	773	3	CIC	19	42791869	Missense_Mutation	SNP	T	TCGA-TM-A7C5-01A-11D-A32B-08	25776802	42791869	16337114	30	56195											
ATRN	8455	broad.mit.edu	37	chr20	3615007	3615007	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgtggtttggaagatcaaaCaaagttgttgggcctccaga	11	11	12	7	0	1	2	1	0	0	2	2	3	2	3	2	3	1	3	2	3	3	3			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chr20:3615007C>T	ENST00000262919.5	+	26	3981	c.3913C>T	c.(3913-3915)Caa>Taa	p.Q1305*		NM_139321.2	NP_647537.1	O75882	ATRN_HUMAN	attractin	1305					inflammatory response	extracellular space|integral to plasma membrane	receptor activity|sugar binding			breast(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	59						GAAGATCAAACAAAGTTGTTG	0.443													T	3615007	C	T	3615007	4	4	742	1	0	0	0	0	0	1	0	0	1211	479	17	2	4037	2	ATRN	20	3615007	Nonsense_Mutation	SNP	C	TCGA-TM-A7C5-01A-11D-A32B-08		3615007	59410513	31	56196											
WWC3	55841	broad.mit.edu	37	chrX	10085617	10085617	+	Frame_Shift_Del	DEL	G	G	-																															cgggcacacgcctcggctatGggggacgaagacttaccagg																										TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:10085617delG	ENST00000380861.4	+	11	1909	c.1518delG	c.(1516-1518)atgfs	p.M506fs	WWC3_ENST00000454666.1_Frame_Shift_Del_p.M506fs	NM_015691.3	NP_056506.2	Q9ULE0	WWC3_HUMAN	WWC family member 3	506										NS(1)|breast(3)|endometrium(10)|kidney(1)|large_intestine(11)|lung(17)|ovary(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	52						CCTCGGCTATGGGGGACGAAG	0.721													-	10085617	G	-	10085617	7	5	742	1	0	1	0	1	0	0	0	0	17515	1348	47	0	1556	0	WWC3	23	10085617	Frame_Shift_Del	DEL	G	TCGA-TM-A7C5-01A-11D-A32B-08		10085617	145184943	32	56197											
MID2	11043	broad.mit.edu	37	chrX	107084062	107084062	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcttcagctgtgcccatcGcattttggtatcaagctgca	7	13	9	12	1	2	0	2	0	0	0	3	0	2	0	1	1	5	6	1	1	2	4			TCGA-TM-A7C5-01A-11D-A32B-08	TCGA-TM-A7C5-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	64adb394-e415-4156-929b-da1b13c26af4	474aa4ed-af9d-4973-965e-d1217db30a43	g.chrX:107084062G>A	ENST00000262843.6	+	2	715	c.167G>A	c.(166-168)cGc>cAc	p.R56H	MID2_ENST00000443968.2_Missense_Mutation_p.R56H	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	56						centrosome|microtubule	ligase activity|zinc ion binding	p.R36H(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						TGTGCCCATCGCATTTTGGTA	0.517													A	107084062	G	A	107084062	3	1	742	1	0	0	0	0	1	0	0	0	9653	1087	38	1	173	1	MID2	23	107084062	Missense_Mutation	SNP	G	TCGA-TM-A7C5-01A-11D-A32B-08	96998445	107084062	48186498	33	56198											
SPTA1	6708	broad.mit.edu	37	chr1	158615124	158615124	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gataagttctgcactgaagtCctctaaggcctggaaggtgg	10	10	13	8	0	2	1	0	1	2	0	3	3	3	2	2	4	1	2	2	4	4	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:158615124C>G	ENST00000368147.4	-	29	4228	c.4048G>C	c.(4048-4050)Gac>Cac	p.D1350H		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1 (elliptocytosis 2)						actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCACTGAAGTCCTCTAAGGCC	0.502													G	158615124	C	G	158615124	3	3	743	1	0	0	0	0	1	0	0	0	15212	855	30	4	3307	4	SPTA1	1	158615124	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		158615124	90635497	1	56199											
OLFML2B	25903	broad.mit.edu	37	chr1	161967952	161967952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgatgctgggatctgaggtCgagggctgtggcagtgctga	6	9	19	7	2	1	2	0	2	1	0	2	5	1	3	0	4	2	4	0	4	0	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:161967952C>T	ENST00000294794.3	-	6	1560	c.1137G>A	c.(1135-1137)tcG>tcA	p.S379S	OLFML2B_ENST00000367940.2_Silent_p.S380S	NM_015441.1	NP_056256.1	Q68BL8	OLM2B_HUMAN	olfactomedin-like 2B	379										breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(22)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48	all_hematologic(112;0.156)		BRCA - Breast invasive adenocarcinoma(70;0.0172)			GATCTGAGGTCGAGGGCTGTG	0.627													T	161967952	C	T	161967952	2	4	743	1	0	0	0	0	0	0	0	1	10934	871	31	1		1	OLFML2B	1	161967952	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	3352828	161967952	87282669	2	56200											
USH2A	7399	broad.mit.edu	37	chr1	215972326	215972326	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacaatctgtctgccacagCacttctggccatggccatca	9	10	7	15	0	5	0	2	0	3	0	5	0	5	0	3	2	2	1	3	2	1	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:215972326C>G	ENST00000366943.2	-	50	10267	c.9881G>C	c.(9880-9882)tGc>tCc	p.C3294S	USH2A_ENST00000307340.3_Missense_Mutation_p.C3294S			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3294					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)		TCTGCCACAGCACTTCTGGCC	0.527										HNSCC(13;0.011)			G	215972326	C	G	215972326	3	3	743	1	0	0	0	0	1	0	0	0	17138	710	25	4	5819	4	USH2A	1	215972326	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	54004374	215972326	33278295	3	56201											
RYR2	6262	broad.mit.edu	37	chr1	237604643	237604643	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aattggatgtaggggtgagaAaagaagtagatggcatggga	15	8	17	1	0	0	3	0	1	0	3	0	6	0	5	0	5	0	3	0	5	6	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:237604643A>G	ENST00000366574.2	+	13	1347	c.1030A>G	c.(1030-1032)Aaa>Gaa	p.K344E	RYR2_ENST00000360064.6_Missense_Mutation_p.K342E|RYR2_ENST00000542537.1_Missense_Mutation_p.K328E	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	344					cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AGGGGTGAGAAAAGAAGTAGA	0.378													G	237604643	A	G	237604643	3	3	743	1	0	0	0	0	1	0	0	0	13860	15	1	3	1080	3	RYR2	1	237604643	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	21632317	237604643	11645978	4	56202											
TRIM58	25893	broad.mit.edu	37	chr1	248039310	248039310	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgtccccaacaaccctgAgcgatttgacacatggccct	10	8	9	14	1	0	2	0	2	0	0	1	4	1	3	4	2	3	0	4	2	2	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr1:248039310A>G	ENST00000366481.3	+	6	1028	c.980A>G	c.(979-981)gAg>gGg	p.E327G	OR2W3_ENST00000537741.1_5'UTR	NM_015431.3	NP_056246.3	Q8NG06	TRI58_HUMAN	tripartite motif containing 58	327	B30.2/SPRY.					intracellular	zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(39)|ovary(4)|pancreas(1)|skin(7)|stomach(1)	63	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0286)	OV - Ovarian serous cystadenocarcinoma(106;0.0319)			AACAACCCTGAGCGATTTGAC	0.592													G	248039310	A	G	248039310	3	3	743	1	0	0	0	0	1	0	0	0	16632	304	11	3	1002	3	TRIM58	1	248039310	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	10434667	248039310	1211311	5	56203											
GREB1	9687	broad.mit.edu	37	chr2	11702615	11702615	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gccgagtggacaatgaggaaGaggaagaagagggagaagga	17	2	19	3	1	0	5	0	1	0	4	0	11	0	9	1	5	0	0	1	5	5	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:11702615G>A	ENST00000381486.2	+	3	484	c.184G>A	c.(184-186)Gag>Aag	p.E62K	GREB1_ENST00000263834.5_Missense_Mutation_p.E62K|GREB1_ENST00000234142.5_Missense_Mutation_p.E62K|GREB1_ENST00000389825.3_5'UTR|GREB1_ENST00000381483.2_Missense_Mutation_p.E62K	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	62						integral to membrane				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		CAATGAGGAAGAGGAAGAAGA	0.582													A	11702615	G	A	11702615	3	1	743	1	0	0	0	0	1	0	0	0	6815	943	33	2	190	2	GREB1	2	11702615	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		11702615	231496758	6	56204											
ALMS1	7840	broad.mit.edu	37	chr2	73680594	73680594	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccacgggtgtatctaatGgtgatttgcttcacagacag	9	13	10	9	1	2	2	1	1	1	1	3	2	3	2	1	2	1	2	1	2	2	5			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr2:73680594G>T	ENST00000264448.6	+	8	7048	c.6937G>T	c.(6937-6939)Ggt>Tgt	p.G2313C	ALMS1_ENST00000377715.1_Missense_Mutation_p.G2313C|ALMS1_ENST00000409009.1_Missense_Mutation_p.G2271C	NM_015120.4	NP_055935	Q8TCU4	ALMS1_HUMAN	Alstrom syndrome 1	2313					G2/M transition of mitotic cell cycle	centrosome|cilium|cytosol|microtubule basal body|spindle pole				breast(4)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(31)|lung(68)|ovary(4)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	147						TGTATCTAATGGTGATTTGCT	0.448													T	73680594	G	T	73680594	3	4	743	1	0	0	0	0	1	0	0	0	535	1348	47	4	6967	4	ALMS1	2	73680594	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	61977979	73680594	169518779	7	56205											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	743	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	135432518	209113112	34086261	8	56206											
RYK	6259	broad.mit.edu	37	chr3	133913946	133913946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgataggagttgcattgTtgggcgtgtctgctctcaga	6	14	15	6	1	2	2	1	1	2	1	3	3	2	3	0	3	2	4	0	3	1	4			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:133913946T>C	ENST00000427044.2	-	8	903	c.293A>G	c.(292-294)aAc>aGc	p.N98S	RYK_ENST00000296084.4_Missense_Mutation_p.N288S			P34925	RYK_HUMAN	receptor-like tyrosine kinase	287	WIF.				corpus callosum development|positive regulation of MAPKKK cascade|Wnt receptor signaling pathway	cytoplasm|integral to plasma membrane|nucleus	ATP binding|transmembrane receptor protein tyrosine kinase activity			lung(1)|ovary(3)	4						AGTTGCATTGTTGGGCGTGTC	0.458													C	133913946	T	C	133913946	3	2	743	1	0	0	0	0	1	0	0	0	13858	1725	60	3	999	3	RYK	3	133913946	Missense_Mutation	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		133913946	64108484	9	56207											
RTP4	64108	broad.mit.edu	37	chr3	187088818	187088818	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatggaaatggcacgaggaAgtctccagaaatgccagtaa	15	7	11	8	1	1	1	0	0	1	1	2	4	1	3	2	3	1	2	2	3	5	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr3:187088818A>T	ENST00000259030.2	+	2	508	c.398A>T	c.(397-399)aAg>aTg	p.K133M		NM_022147.2	NP_071430.2	Q96DX8	RTP4_HUMAN	receptor (chemosensory) transporter protein 4	133					detection of chemical stimulus involved in sensory perception of bitter taste|protein targeting to membrane	cytoplasm|integral to membrane	protein binding			breast(1)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	11	all_cancers(143;4.66e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		GGCACGAGGAAGTCTCCAGAA	0.488													T	187088818	A	T	187088818	3	4	743	1	0	0	0	0	1	0	0	0	13827	72	3	5	404	5	RTP4	3	187088818	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	53174872	187088818	10933612	10	56208											
PCDH7	5099	broad.mit.edu	37	chr4	31144318	31144318	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaccgcaacagaaacctcctGaacaaaaagttgacctcatc	16	6	6	13	1	1	3	1	2	0	1	3	4	2	3	4	0	3	2	4	0	5	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:31144318G>T	ENST00000543491.1	+	3	3615	c.3615G>T	c.(3613-3615)ctG>ctT	p.L1205L				O60245	PCDH7_HUMAN	protocadherin 7	0					homophilic cell adhesion	integral to plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(8)|liver(1)|lung(26)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	55						GAAACCTCCTGAACAAAAAGT	0.493													T	31144318	G	T	31144318	2	4	743	1	0	0	0	0	0	0	0	1	11592	1277	45	4		4	PCDH7	4	31144318	Silent	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		31144318	160009958	11	56209											
ATP10D	57205	broad.mit.edu	37	chr4	47514779	47514779	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccggagcctatgtgaacaaTcgaatacgaacaacaaagta	17	7	8	9	3	0	1	0	1	0	0	2	4	1	2	2	1	5	1	2	1	9	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr4:47514779T>C	ENST00000273859.3	+	2	491	c.222T>C	c.(220-222)aaT>aaC	p.N74N	ATP10D_ENST00000504445.1_Silent_p.N74N	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	74					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGTGAACAATCGAATACGAA	0.403													C	47514779	T	C	47514779	2	2	743	1	0	0	0	0	0	0	0	1	1123	1432	50	3		3	ATP10D	4	47514779	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08	16370461	47514779	143639497	12	56210											
PDE8B	8622	broad.mit.edu	37	chr5	76715664	76715664	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagatgacaaaacactttgaAcatgtgaataagtttgtgaa	17	11	9	4	0	0	5	0	4	0	1	0	6	0	5	0	0	2	1	0	0	6	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:76715664A>G	ENST00000264917.5	+	19	2247	c.2202A>G	c.(2200-2202)gaA>gaG	p.E734E	PDE8B_ENST00000342343.4_Silent_p.E714E|PDE8B_ENST00000346042.3_Silent_p.E637E|PDE8B_ENST00000505283.1_Silent_p.E199E|PDE8B_ENST00000340978.3_Silent_p.E687E|PDE8B_ENST00000333194.4_Silent_p.E679E	NM_003719.3	NP_003710.1	O95263	PDE8B_HUMAN	phosphodiesterase 8B	734	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity		GMDS/PDE8B(2)	NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(10)|lung(15)|ovary(1)|prostate(2)|skin(3)	40		all_lung(232;0.00043)|Lung NSC(167;0.00114)|Ovarian(174;0.0107)|Prostate(461;0.0605)		OV - Ovarian serous cystadenocarcinoma(54;2.21e-49)|Epithelial(54;5.82e-43)|all cancers(79;4.06e-38)		AACACTTTGAACATGTGAATA	0.423													G	76715664	A	G	76715664	2	3	743	1	0	0	0	0	0	0	0	1	11730	40	2	3		3	PDE8B	5	76715664	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08		76715664	104199596	13	56211											
ANKRD34B	340120	broad.mit.edu	37	chr5	79855467	79855467	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatcttctgaatttatagcAtaaacaagagctgagtaact	15	13	7	6	0	2	3	0	2	2	1	2	3	2	3	0	0	4	4	0	0	8	7			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:79855467A>G	ENST00000338682.3	-	5	1044	c.372T>C	c.(370-372)taT>taC	p.Y124Y		NM_001004441.2	NP_001004441.2	A5PLL1	AN34B_HUMAN	ankyrin repeat domain 34B	124						cytoplasm|nucleus				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(3)|lung(13)|pancreas(1)|prostate(1)|urinary_tract(1)	28		Lung NSC(167;0.0427)|all_lung(232;0.0464)|Ovarian(174;0.113)		OV - Ovarian serous cystadenocarcinoma(54;2.17e-46)|Epithelial(54;5.64e-41)|all cancers(79;3.24e-36)		AATTTATAGCATAAACAAGAG	0.443													G	79855467	A	G	79855467	2	3	743	1	0	0	0	0	0	0	0	1	663	224	8	3		3	ANKRD34B	5	79855467	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	3139803	79855467	101059793	14	56212											
NRG2	9542	broad.mit.edu	37	chr5	139422523	139422531	+	In_Frame_Del	DEL	GCCGCTCTC	GCCGCTCTC	-																															ctgctgctcctgctgctgctGccgctctcgctgctgctgct																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr5:139422523_139422531delGCCGCTCTC	ENST00000541337.1	-	1	353_361	c.124_132delGAGAGCGGC	c.(124-132)gagagcggcdel	p.ESG42del	NRG2_ENST00000394770.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289422.7_In_Frame_Del_p.ESG42del|NRG2_ENST00000545385.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000358522.3_In_Frame_Del_p.ESG42del|NRG2_ENST00000361474.1_In_Frame_Del_p.ESG42del|NRG2_ENST00000289409.4_In_Frame_Del_p.ESG42del	NM_001184935.1	NP_001171864.1	O14511	NRG2_HUMAN	neuregulin 2	42	Poly-Ser.				embryo development	extracellular region|integral to membrane|plasma membrane	growth factor activity			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)	25			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			tgctgctgctgccgctctcgctgctgctg	0.708													-	139422531	GCCGCTCTC	-	139422523	7	5	743	1	0	1	0	1	0	0	0	0	10724	1306	46	0	2551	0	NRG2	5	139422523	In_Frame_Del	DEL	GCCGCTCTC	TCGA-TM-A7CA-01A-21D-A33T-08	59567056	139422523	41492737	15	56213											
EFHC1	114327	broad.mit.edu	37	chr6	52288806	52288806	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctatgcaattgttcgacgTccaacagttgggataggcgg	9	10	14	8	3	0	0	0	0	0	0	2	2	1	1	1	4	2	4	1	4	4	5			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:52288806T>C	ENST00000371068.5	+	2	229	c.126T>C	c.(124-126)cgT>cgC	p.R42R	EFHC1_ENST00000433625.2_5'UTR|EFHC1_ENST00000491749.1_3'UTR|EFHC1_ENST00000538167.1_Silent_p.R23R	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	42						axoneme|neuronal cell body	calcium ion binding|protein C-terminus binding			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TTGTTCGACGTCCAACAGTTG	0.493													C	52288806	T	C	52288806	2	2	743	1	0	0	0	0	0	0	0	1	4985	1654	58	3		3	EFHC1	6	52288806	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		52288806	118826261	16	56214											
POPDC3	64208	broad.mit.edu	37	chr6	105606400	105606400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gttgtgtcaggggtgatctgCgtatttctggagttgacatt	6	16	14	5	1	3	2	1	2	2	0	3	3	3	3	0	3	1	3	0	3	1	5			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:105606400C>T	ENST00000254765.3	-	4	1099	c.821G>A	c.(820-822)cGc>cAc	p.R274H	POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	274						integral to membrane				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				GGGTGATCTGCGTATTTCTGG	0.348													T	105606400	C	T	105606400	3	4	743	1	0	0	0	0	1	0	0	0	12333	768	27	1	58	1	POPDC3	6	105606400	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	53317594	105606400	65508667	17	56215											
FAM26E	254228	broad.mit.edu	37	chr6	116836827	116836827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctcaccacatgttatgctcGctgccgatctaaagttagct	9	12	8	12	2	2	0	1	0	1	0	3	1	2	0	2	0	3	6	2	0	4	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr6:116836827G>A	ENST00000368599.3	+	2	656	c.605G>A	c.(604-606)cGc>cAc	p.R202H	TRAPPC3L_ENST00000368602.3_Intron	NM_153711.2	NP_714922.1	Q8N5C1	FA26E_HUMAN	family with sequence similarity 26, member E	202						integral to membrane				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(87;0.0608)|all_epithelial(87;0.05)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0242)|all cancers(137;0.0419)|OV - Ovarian serous cystadenocarcinoma(136;0.0671)|Epithelial(106;0.212)		TGTTATGCTCGCTGCCGATCT	0.413													A	116836827	G	A	116836827	3	1	743	1	0	0	0	0	1	0	0	0	5601	1087	38	1	611	1	FAM26E	6	116836827	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	11230427	116836827	54278240	18	56216											
PPP1R3A	5506	broad.mit.edu	37	chr7	113519703	113519703	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atctcttcgtaaacatcccaAatcttttacttcaatatttt	12	18	1	10	1	3	0	1	0	2	0	6	0	4	0	1	0	2	1	1	0	6	8			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:113519703A>G	ENST00000284601.3	-	4	1512	c.1444T>C	c.(1444-1446)Ttg>Ctg	p.L482L		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	482					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						AAACATCCCAAATCTTTTACT	0.373													G	113519703	A	G	113519703	2	3	743	1	0	0	0	0	0	0	0	1	12453	11	1	3		3	PPP1R3A	7	113519703	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08		113519703	45618960	19	56217											
NUB1	51667	broad.mit.edu	37	chr7	151072988	151072988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atgattccaatcctgaaaccGacaaccgtcaagaaagtcct	15	8	6	12	2	1	3	1	2	0	1	4	4	4	3	5	0	2	0	5	0	5	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr7:151072988G>A	ENST00000568733.1	+	13	1588	c.1522G>A	c.(1522-1524)Gac>Aac	p.D508N	NUB1_ENST00000355851.4_Missense_Mutation_p.D484N|NUB1_ENST00000413040.2_Missense_Mutation_p.D494N|NUB1_ENST00000566856.1_Missense_Mutation_p.D470N			Q9Y5A7	NUB1_HUMAN	negative regulator of ubiquitin-like proteins 1	484	UBA 3.				positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein ubiquitination|response to interferon-gamma|response to tumor necrosis factor|ubiquitin-dependent protein catabolic process	nucleus	protein binding			endometrium(1)|large_intestine(7)|lung(3)	11			OV - Ovarian serous cystadenocarcinoma(82;0.00569)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		TCCTGAAACCGACAACCGTCA	0.493													A	151072988	G	A	151072988	3	1	743	1	0	0	0	0	1	0	0	0	10790	1058	37	1	1454	1	NUB1	7	151072988	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	37553285	151072988	8065675	20	56218											
SIGMAR1	10280	broad.mit.edu	37	chr9	34635806	34635806	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccaccatccatgtgtttggCccccactccacagctgttgc	6	11	7	17	0	0	0	0	0	0	0	3	0	3	0	6	1	2	3	6	1	0	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:34635806C>T	ENST00000378892.1	-	3	655	c.228G>A	c.(226-228)ggG>ggA	p.G76G	SIGMAR1_ENST00000477726.1_Silent_p.G134G|SIGMAR1_ENST00000461426.1_5'UTR|SIGMAR1_ENST00000277010.4_Silent_p.G165G			Q99720	SGMR1_HUMAN	sigma non-opioid intracellular receptor 1	165					ergosterol biosynthetic process|lipid transport	cell junction|endoplasmic reticulum membrane|growth cone|integral to plasma membrane|lipid particle|nuclear inner membrane|nuclear outer membrane	C-8 sterol isomerase activity|drug binding			large_intestine(1)|lung(1)	2					Dextromethorphan(DB00514)	ATGTGTTTGGCCCCCACTCCA	0.647													T	34635806	C	T	34635806	2	4	743	1	0	0	0	0	0	0	0	1	14410	726	26	2		2	SIGMAR1	9	34635806	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		34635806	106577625	21	56219											
TRIM14	9830	broad.mit.edu	37	chr9	100849858	100849858	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtggctcatgccgcccGtcacgtcgtagaaggcgagg	7	6	16	12	5	2	1	2	0	0	1	3	2	2	1	2	4	1	3	2	4	2	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:100849858G>A	ENST00000341469.2	-	6	1232	c.1223C>T	c.(1222-1224)aCg>aTg	p.T408M	TRIM14_ENST00000342043.3_Missense_Mutation_p.T408M|TRIM14_ENST00000478530.1_5'UTR|TRIM14_ENST00000375098.3_Missense_Mutation_p.T408M|TRIM14_ENST00000538344.1_Missense_Mutation_p.T189M	NM_014788.2	NP_055603.2	Q14142	TRI14_HUMAN	tripartite motif containing 14	408	B30.2/SPRY.			RLRPRDDLDRLGVFLDYEAGVLAFYDVTGGMSHLHTFRATF QEPLYPALRLWEGAISIPRLP -> ACGPATTSTGSASSWT TRPASSPSTT (in Ref. 2; BAA09478).		cytoplasm|intracellular	zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(62;0.0559)				CATGCCGCCCGTCACGTCGTA	0.726													A	100849858	G	A	100849858	3	1	743	1	0	0	0	0	1	0	0	0	16590	1145	40	1	109	1	TRIM14	9	100849858	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	66214052	100849858	40363573	22	56220											
SMC2	10592	broad.mit.edu	37	chr9	106877086	106877086	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagtggctggagaacgactCtacaatgttgtagtagacac	12	11	11	7	1	1	2	0	0	1	2	1	4	1	2	0	2	2	4	0	2	6	5			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:106877086C>A	ENST00000286398.7	+	13	1935	c.1647C>A	c.(1645-1647)ctC>ctA	p.L549L	SMC2_ENST00000374787.3_Silent_p.L549L|SMC2_ENST00000303219.8_Silent_p.L549L|SMC2_ENST00000374793.3_Silent_p.L549L	NM_001042551.1|NM_001265602.1|NM_006444.2	NP_001036016.1|NP_001252531.1|NP_006435.2	O95347	SMC2_HUMAN	structural maintenance of chromosomes 2	549	Flexible hinge.				cell division|mitotic chromosome condensation|symbiosis, encompassing mutualism through parasitism	condensin complex|cytoplasm|nuclear chromosome	ATP binding|protein heterodimerization activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(14)|ovary(5)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)	48						GAGAACGACTCTACAATGTTG	0.333													A	106877086	C	A	106877086	2	1	743	1	0	0	0	0	0	0	0	1	14877	900	32	4		4	SMC2	9	106877086	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	6027228	106877086	34336345	23	56221											
STOM	2040	broad.mit.edu	37	chr9	124116908	124116908	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggctcctccttgtaaaatgCgacccaatctaaagatgatg	12	11	8	10	1	1	2	0	1	1	1	3	3	3	2	3	1	1	2	3	1	5	3	rs115867734	by1000genomes	TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:124116908C>T	ENST00000286713.2	-	3	226	c.209G>A	c.(208-210)cGc>cAc	p.R70H	STOM_ENST00000538954.1_Missense_Mutation_p.R19H|STOM_ENST00000347359.2_Intron	NM_001270526.1|NM_004099.5	NP_001257455.1|NP_004090.4	P27105	STOM_HUMAN	stomatin	70					protein homooligomerization	cytoskeleton|integral to plasma membrane|melanosome|membrane raft	protein binding			endometrium(1)|large_intestine(1)|lung(3)|urinary_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(323;0.00107)|GBM - Glioblastoma multiforme(294;0.0137)		TTGTAAAATGCGACCCAATCT	0.294													T	124116908	C	T	124116908	3	4	743	1	0	0	0	0	1	0	0	0	15408	768	27	1	677	1	STOM	9	124116908	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	17239822	124116908	17096523	24	56222											
CRB2	286204	broad.mit.edu	37	chr9	126133603	126133603	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatgatgggctccgtcacCtggtgatgctcagcttcggg	5	10	16	10	2	2	2	2	2	0	0	4	3	3	3	2	4	2	3	2	4	0	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:126133603C>G	ENST00000373631.3	+	8	2183	c.2182C>G	c.(2182-2184)Ctg>Gtg	p.L728V	CRB2_ENST00000359999.3_Missense_Mutation_p.L728V|CRB2_ENST00000373629.2_Missense_Mutation_p.L396V	NM_173689.5	NP_775960.4	Q5IJ48	CRUM2_HUMAN	crumbs homolog 2 (Drosophila)	728	Laminin G-like 2.					extracellular region|integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|cervix(1)|endometrium(2)|lung(11)|ovary(1)|prostate(2)|skin(3)	23						GCTCCGTCACCTGGTGATGCT	0.667													G	126133603	C	G	126133603	3	3	743	1	0	0	0	0	1	0	0	0	3880	680	24	4	2212	4	CRB2	9	126133603	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	2016695	126133603	15079828	25	56223											
TOR1A	1861	broad.mit.edu	37	chr9	132576341	132576343	+	In_Frame_Del	DEL	CTC	CTC	-																															tctttggggaaaaatgtcatCtcctcagccactctgcttac																								rs80358233		TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr9:132576341_132576343delCTC	ENST00000351698.4	-	5	955_957	c.907_909delGAG	c.(907-909)gagdel	p.E303del		NM_000113.2	NP_000104.1	O14656	TOR1A_HUMAN	torsin family 1, member A (torsin A)	303			Missing (in DYT1).		chaperone mediated protein folding requiring cofactor|response to unfolded protein	endoplasmic reticulum lumen|nuclear membrane	ATP binding|serine-type endopeptidase activity|unfolded protein binding			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	20		Ovarian(14;0.00556)				AAAATGTCATCTCCTCAGCCACT	0.424													-	132576343	CTC	-	132576341	7	5	743	1	0	1	0	1	0	0	0	0	16472	912	32	0	93	0	TOR1A	9	132576341	In_Frame_Del	DEL	CTC	TCGA-TM-A7CA-01A-21D-A33T-08	6442738	132576341	8637090	26	56224											
CUBN	8029	broad.mit.edu	37	chr10	17110716	17110716	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttataaatgaaggtatgtcTgtaccgcaatactttttatt	12	17	7	5	1	1	1	0	1	1	0	1	1	1	1	1	1	2	4	1	1	9	9			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17110716T>C	ENST00000377833.4	-	20	2744	c.2679A>G	c.(2677-2679)acA>acG	p.T893T		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	893	CUB 4.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AAGGTATGTCTGTACCGCAAT	0.318													C	17110716	T	C	17110716	2	2	743	1	0	0	0	0	0	0	0	1	4084	1567	55	3		3	CUBN	10	17110716	Silent	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		17110716	118424031	27	56225											
STAM	8027	broad.mit.edu	37	chr10	17726892	17726892	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttagaagtatgttcaagagAttttgctagtgaagtaagca	14	14	10	3	0	1	3	1	1	0	2	1	4	1	3	0	0	2	5	0	0	7	8			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:17726892A>G	ENST00000377524.3	+	4	478	c.263A>G	c.(262-264)gAt>gGt	p.D88G	STAM_ENST00000540523.1_Intron	NM_003473.3	NP_003464.1	Q92783	STAM1_HUMAN	signal transducing adaptor molecule (SH3 domain and ITAM motif) 1	88	VHS.				cellular membrane organization|endosome transport|epidermal growth factor receptor signaling pathway|intracellular protein transport|negative regulation of epidermal growth factor receptor signaling pathway	cytosol|early endosome membrane	SH3/SH2 adaptor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	26						TGTTCAAGAGATTTTGCTAGT	0.313													G	17726892	A	G	17726892	3	3	743	1	0	0	0	0	1	0	0	0	15344	333	12	3	277	3	STAM	10	17726892	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	616176	17726892	117807855	28	56226											
RET	5979	broad.mit.edu	37	chr10	43615005	43615005	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctcctcatcgtggagtacGccaaatacggctccctgcgg	7	9	10	15	4	1	0	1	0	0	0	5	1	4	1	4	3	3	2	4	3	3	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:43615005G>A	ENST00000355710.3	+	14	2651	c.2419G>A	c.(2419-2421)Gcc>Acc	p.A807T	RET_ENST00000340058.5_Missense_Mutation_p.A807T	NM_020975.4	NP_066124.1	P07949	RET_HUMAN	ret proto-oncogene	807	Protein kinase.				homophilic cell adhesion|positive regulation of metanephric glomerulus development|positive regulation of transcription, DNA-dependent|posterior midgut development	integral to membrane	ATP binding|calcium ion binding|transmembrane receptor protein tyrosine kinase activity		CCDC6/RET(4)|KIF5B/RET(79)	NS(2)|adrenal_gland(26)|breast(5)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|lung(27)|ovary(5)|prostate(3)|skin(1)|thyroid(504)|upper_aerodigestive_tract(1)|urinary_tract(1)	607		Ovarian(717;0.0423)			Sunitinib(DB01268)	CGTGGAGTACGCCAAATACGG	0.701		1	"T, Mis, N, F"	"H4, PRKAR1A, NCOA4, PCM1, GOLGA5, TRIM33, KTN1, TRIM27, HOOK3, KIF5B, CCDC6"	"medullary thyroid,  papillary thyroid, pheochromocytoma, NSCLC"	"medullary thyroid,  papillary thyroid, pheochromocytoma"	Hirschsprung disease		Multiple Endocrine Neoplasia, type 2B;Multiple Endocrine Neoplasia, type 2A;Familial Medullary Thyroid Carcinoma				A	43615005	G	A	43615005	3	1	743	1	0	0	0	0	1	0	0	0	13323	1087	38	1	2473	1	RET	10	43615005	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	25888113	43615005	91919742	29	56227											
SMC3	9126	broad.mit.edu	37	chr10	112361522	112361522	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatactaaagaactggaaaaGatgacaaatcggcaaggcat	19	6	10	6	1	0	3	0	1	0	2	1	5	0	4	0	3	2	2	0	3	8	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:112361522G>C	ENST00000361804.4	+	24	2898	c.2772G>C	c.(2770-2772)aaG>aaC	p.K924N		NM_005445.3	NP_005436.1	Q9UQE7	SMC3_HUMAN	structural maintenance of chromosomes 3	924					cell division|DNA mediated transformation|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic spindle organization|negative regulation of DNA endoreduplication|signal transduction|sister chromatid cohesion	basement membrane|chromatin|chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nuclear matrix|nucleoplasm|spindle pole	ATP binding|dynein binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(5)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		Breast(234;0.0848)|Lung NSC(174;0.238)		Epithelial(162;0.00206)|all cancers(201;0.0227)|BRCA - Breast invasive adenocarcinoma(275;0.127)		AACTGGAAAAGATGACAAATC	0.378													C	112361522	G	C	112361522	3	2	743	1	0	0	0	0	1	0	0	0	14878	933	33	4	2866	4	SMC3	10	112361522	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	68746517	112361522	23173225	30	56228											
BTBD16	118663	broad.mit.edu	37	chr10	124097550	124097550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaccttgaaaatccaaactGtgggcatcccaatctatgta	14	10	7	10	0	1	2	0	1	1	1	3	2	3	2	3	1	1	2	3	1	6	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr10:124097550G>A	ENST00000368994.2	+	16	1725	c.1474G>A	c.(1474-1476)Gtg>Atg	p.V492M	BTBD16_ENST00000260723.4_Missense_Mutation_p.V491M			Q32M84	BTBDG_HUMAN	BTB (POZ) domain containing 16	491										breast(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(3)|skin(2)|stomach(1)|urinary_tract(1)	15		all_neural(114;0.107)|Lung NSC(174;0.175)|all_lung(145;0.222)|Breast(234;0.238)				AATCCAAACTGTGGGCATCCC	0.408													A	124097550	G	A	124097550	3	1	743	1	0	0	0	0	1	0	0	0	1550	1377	48	2	1529	2	BTBD16	10	124097550	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	11736028	124097550	11437197	31	56229											
OR5M8	219484	broad.mit.edu	37	chr11	56258358	56258358	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggccacagaaggctaggttGtaggtccacatggtctccat	9	9	13	10	0	1	1	0	0	1	1	3	1	2	1	3	5	0	3	3	5	3	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:56258358G>T	ENST00000327216.2	-	1	513	c.489C>A	c.(487-489)taC>taA	p.Y163*		NM_001005282.1	NP_001005282.1	Q8NGP6	OR5M8_HUMAN	olfactory receptor, family 5, subfamily M, member 8	163					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(22)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	Esophageal squamous(21;0.00352)					AGGCTAGGTTGTAGGTCCACA	0.498													T	56258358	G	T	56258358	4	4	743	1	0	0	0	0	0	1	0	0	11252	1372	48	4	450	4	OR5M8	11	56258358	Nonsense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		56258358	78748158	32	56230											
MACROD1	28992	broad.mit.edu	37	chr11	63919827	63919827	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagtccttgcagaagtaatGttcctcccgctgcttgtcac	9	12	8	12	1	1	1	1	0	0	1	4	1	4	1	3	0	2	5	3	0	3	4			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:63919827G>T	ENST00000255681.6	-	2	403	c.337C>A	c.(337-339)Cat>Aat	p.H113N	MACROD1_ENST00000538595.1_5'UTR	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	113										breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CAGAAGTAATGTTCCTCCCGC	0.617													T	63919827	G	T	63919827	3	4	743	1	0	0	0	0	1	0	0	0	9216	1377	48	4	676	4	MACROD1	11	63919827	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	7661469	63919827	71086689	33	56231											
FIBP	9158	broad.mit.edu	37	chr11	65653868	65653868	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cccgcatttcctctaccaccTtgaagacccgtttaaagttg	9	12	6	14	2	1	2	0	1	1	1	2	2	2	2	5	0	1	3	5	0	4	6			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:65653868T>C	ENST00000338369.2	-	4	549	c.437A>G	c.(436-438)aAg>aGg	p.K146R	FIBP_ENST00000426652.2_5'UTR|FIBP_ENST00000357519.4_Missense_Mutation_p.K146R|FIBP_ENST00000533045.1_Missense_Mutation_p.K143R	NM_198897.1	NP_942600.1	O43427	FIBP_HUMAN	fibroblast growth factor (acidic) intracellular binding protein	146					fibroblast growth factor receptor signaling pathway	endomembrane system|membrane|microsome|mitochondrion|nucleus	fibroblast growth factor binding			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	10				READ - Rectum adenocarcinoma(159;0.166)		CTCTACCACCTTGAAGACCCG	0.522													C	65653868	T	C	65653868	3	2	743	1	0	0	0	0	1	0	0	0	5935	1609	56	3	685	3	FIBP	11	65653868	Missense_Mutation	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08	1734041	65653868	69352648	34	56232											
PIWIL4	143689	broad.mit.edu	37	chr11	94328504	94328504	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggcaacatctgatttcCagctgatgaaggctgtggct	10	10	11	10	0	1	3	0	3	1	0	2	3	2	3	2	3	2	4	2	3	2	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:94328504C>T	ENST00000299001.6	+	10	1391	c.1180C>T	c.(1180-1182)Cag>Tag	p.Q394*	RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	394					cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				ATCTGATTTCCAGCTGATGAA	0.498													T	94328504	C	T	94328504	4	4	743	1	0	0	0	0	0	1	0	0	12037	595	21	2	1218	2	PIWIL4	11	94328504	Nonsense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	28674636	94328504	40678012	35	56233											
YAP1	10413	broad.mit.edu	37	chr11	102076697	102076697	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccccagagcccacagggAggcgtcatgggtggcagcaa	9	4	15	13	1	1	1	1	0	0	1	2	2	2	2	3	4	2	3	3	4	1	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr11:102076697A>G	ENST00000282441.5	+	5	1264	c.876A>G	c.(874-876)ggA>ggG	p.G292G	YAP1_ENST00000531439.1_Silent_p.G292G|YAP1_ENST00000526343.1_Silent_p.G254G|YAP1_ENST00000537274.1_Silent_p.G292G|YAP1_ENST00000345877.2_Silent_p.G254G|YAP1_ENST00000524575.1_Silent_p.G114G	NM_001130145.2|NM_001282101.1	NP_001123617.1|NP_001269030.1	P46937	YAP1_HUMAN	Yes-associated protein 1	292	Transactivation domain.				cell proliferation|cellular response to gamma radiation|contact inhibition|hippo signaling cascade|regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	cytoplasm|nucleus	protein binding|transcription coactivator activity|transcription corepressor activity|transcription regulatory region DNA binding			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)	4	all_cancers(8;0.000575)|all_epithelial(12;0.00564)	Acute lymphoblastic leukemia(157;0.000994)|all_hematologic(158;0.00936)	Lung(13;0.245)	BRCA - Breast invasive adenocarcinoma(274;0.0189)		GCCCACAGGGAGGCGTCATGG	0.537													G	102076697	A	G	102076697	2	3	743	1	0	0	0	0	0	0	0	1	17568	291	11	3		3	YAP1	11	102076697	Silent	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	7748193	102076697	32929819	36	56234											
ARID2	196528	broad.mit.edu	37	chr12	46123899	46123903	+	Frame_Shift_Del	DEL	TACTT	TACTT	-																															ggtctctacaccagagtcacTactttaggcggattcgcgaa																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:46123899_46123903delTACTT	ENST00000334344.6	+	2	337_341	c.165_169delTACTT	c.(163-171)actactttafs	p.TL56fs	ARID2_ENST00000422737.1_5'UTR	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	56	ARID.				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CCAGAGTCACTACTTTAGGCGGATT	0.537			"N, S, F"		hepatocellular carcinoma								-	46123903	TACTT	-	46123899	7	5	743	1	0	1	0	1	0	0	0	0	918	1509	53	0	171	0	ARID2	12	46123899	Frame_Shift_Del	DEL	TACTT	TCGA-TM-A7CA-01A-21D-A33T-08		46123899	87727996	37	56235											
SLC4A8	9498	broad.mit.edu	37	chr12	51882498	51882498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttagccaacaagggatgatCgcggatggattattaatccc	12	10	10	9	2	0	1	0	1	0	0	2	4	1	4	2	3	2	0	2	3	5	3			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr12:51882498C>T	ENST00000453097.2	+	18	2519	c.2302C>T	c.(2302-2304)Cgc>Tgc	p.R768C	SLC4A8_ENST00000358657.3_Missense_Mutation_p.R795C	NM_001039960.2|NM_001258401.2	NP_001035049.1|NP_001245330.1	Q2Y0W8	S4A8_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 8	768					bicarbonate transport|sodium ion transport	integral to membrane|plasma membrane	inorganic anion exchanger activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(18)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(2)|urinary_tract(5)	55				BRCA - Breast invasive adenocarcinoma(357;0.15)		AAGGGATGATCGCGGATGGAT	0.378													T	51882498	C	T	51882498	3	4	743	1	0	0	0	0	1	0	0	0	14753	884	31	1	2372	1	SLC4A8	12	51882498	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	5758599	51882498	81969397	38	56236											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	17	10	5	9	1	1	0	0	0	1	0	2	1	1	1	2	1	3	1	2	1	8	6			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V|TPTE2_ENST00000400103.2_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313													C	20056686	T	C	20056686	5	2	743	1	0	0	0	0	0	0	1	0	16532	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-TM-A7CA-01A-21D-A33T-08		20056686	95113192	39	56237											
CTAGE5	4253	broad.mit.edu	37	chr14	39763257	39763257	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gaagatgagtcaaaatccctCaaatcacaagtagctgaagt	17	8	8	8	0	3	3	3	2	0	1	4	4	4	3	1	0	1	2	1	0	7	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr14:39763257C>G	ENST00000553728.1	+	11	2367	c.2154C>G	c.(2152-2154)ctC>ctG	p.L718L	CTAGE5_ENST00000553352.1_Silent_p.L154L|CTAGE5_ENST00000556148.1_Silent_p.L108L|CTAGE5_ENST00000348007.3_Silent_p.L183L|CTAGE5_ENST00000280083.3_Silent_p.L183L|CTAGE5_ENST00000396165.4_Silent_p.L154L|CTAGE5_ENST00000396158.2_Silent_p.L188L|CTAGE5_ENST00000557038.1_Silent_p.L103L|CTAGE5_ENST00000341749.3_Silent_p.L171L|CTAGE5_ENST00000341502.5_Silent_p.L183L|RP11-407N17.3_ENST00000603904.1_Silent_p.L154L																							CAAAATCCCTCAAATCACAAG	0.299													G	39763257	C	G	39763257	2	3	743	1	0	0	0	0	0	0	0	1	4027	813	29	4		4	CTAGE5	14	39763257	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		39763257	67586283	40	56238											
NR2F2	7026	broad.mit.edu	37	chr15	96875568	96875568	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcagcagcaacacatcgaGtgcgtggtgtgcggagacaa	12	5	14	10	3	0	1	0	0	0	1	1	3	0	1	0	2	6	3	0	2	2	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr15:96875568G>C	ENST00000394166.3	+	1	1623	c.234G>C	c.(232-234)gaG>gaC	p.E78D	NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	78					lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			AACACATCGAGTGCGTGGTGT	0.682													C	96875568	G	C	96875568	3	2	743	1	0	0	0	0	1	0	0	0	10704	1020	36	4	283	4	NR2F2	15	96875568	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		96875568	5655824	41	56239											
MEFV	4210	broad.mit.edu	37	chr16	3293588	3293588	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atacagctgtcaaatctttgCgggccatcaggcagcctctc	9	10	9	13	1	4	0	2	0	2	0	5	0	4	0	2	2	4	2	2	2	2	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:3293588C>T	ENST00000219596.1	-	10	1938	c.1899G>A	c.(1897-1899)ccG>ccA	p.P633P	MEFV_ENST00000339854.4_Silent_p.P453P|MEFV_ENST00000541159.1_3'UTR|MEFV_ENST00000536379.1_Silent_p.P422P	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	633	B30.2/SPRY.				inflammatory response	cytoplasm|microtubule|microtubule associated complex|nucleus	actin binding|zinc ion binding			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50					Colchicine(DB01394)	CAAATCTTTGCGGGCCATCAG	0.517													T	3293588	C	T	3293588	2	4	743	1	0	0	0	0	0	0	0	1	9534	755	27	1		1	MEFV	16	3293588	Silent	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		3293588	87061165	42	56240											
USP7	7874	broad.mit.edu	37	chr16	8990887	8990887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatgctttctccccaagctCcacggcctttttacattctt	6	16	5	14	1	2	1	0	1	2	0	4	1	3	1	4	1	3	2	4	1	2	6			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:8990887C>T	ENST00000344836.4	-	26	2986	c.2788G>A	c.(2788-2790)Gag>Aag	p.E930K	USP7_ENST00000535863.1_Missense_Mutation_p.E831K|USP7_ENST00000381886.4_Missense_Mutation_p.E914K	NM_003470.2	NP_003461.2	Q93009	UBP7_HUMAN	ubiquitin specific peptidase 7 (herpes virus-associated)	930					interspecies interaction between organisms|multicellular organismal development|protein deubiquitination|regulation of sequence-specific DNA binding transcription factor activity|ubiquitin-dependent protein catabolic process	cytoplasm|PML body	cysteine-type endopeptidase activity|p53 binding|protein C-terminus binding|transcription factor binding|ubiquitin protein ligase binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(13)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	48						TCCCCAAGCTCCACGGCCTTT	0.438													T	8990887	C	T	8990887	3	4	743	1	0	0	0	0	1	0	0	0	17190	864	30	2	544	2	USP7	16	8990887	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	5697299	8990887	81363866	43	56241											
ALDOA	226	broad.mit.edu	37	chr16	30081251	30081253	+	In_Frame_Del	DEL	CTC	CTC	-																															aagccctgggccctgaccttCtcctacggccgagccctgca																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr16:30081251_30081253delCTC	ENST00000566897.1	+	11	2052_2054	c.900_902delCTC	c.(898-903)ttctcc>ttc	p.S301del	ALDOA_ENST00000412304.2_In_Frame_Del_p.S301del|ALDOA_ENST00000564595.2_In_Frame_Del_p.S355del|ALDOA_ENST00000338110.5_In_Frame_Del_p.S301del|ALDOA_ENST00000564546.1_In_Frame_Del_p.S301del|ALDOA_ENST00000569798.1_In_Frame_Del_p.S301del|ALDOA_ENST00000395240.3_In_Frame_Del_p.S305del|ALDOA_ENST00000395248.1_In_Frame_Del_p.S355del|ALDOA_ENST00000569545.1_In_Frame_Del_p.S301del|ALDOA_ENST00000563060.2_In_Frame_Del_p.S301del			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	301					actin filament organization|ATP biosynthetic process|fructose 1,6-bisphosphate metabolic process|gluconeogenesis|glycolysis|muscle cell homeostasis|platelet activation|platelet degranulation|protein homotetramerization|regulation of cell shape|striated muscle contraction	actin cytoskeleton|cytosol|extracellular vesicular exosome|I band|platelet alpha granule lumen	actin binding|fructose binding|fructose-bisphosphate aldolase activity|identical protein binding|tubulin binding			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						CCCTGACCTTCTCCTACGGCCGA	0.621													-	30081253	CTC	-	30081251	7	5	743	1	0	1	0	1	0	0	0	0	507	912	32	0	926	0	ALDOA	16	30081251	In_Frame_Del	DEL	CTC	TCGA-TM-A7CA-01A-21D-A33T-08	21090364	30081251	60273502	44	56242											
TP53	7157	broad.mit.edu	37	chr17	7574003	7574003	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaggcctcattcagctctcGgaacatctcgaagcgctcac	10	8	8	15	3	5	0	3	0	2	0	7	2	5	1	1	2	3	2	1	2	3	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7574003G>A	ENST00000269305.4	-	10	1213	c.1024C>T	c.(1024-1026)Cga>Tga	p.R342*	TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_3'UTR|TP53_ENST00000455263.2_3'UTR|TP53_ENST00000359597.4_Intron|TP53_ENST00000445888.2_Nonsense_Mutation_p.R342*	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	342	Interaction with CARM1.|Interaction with HIPK1 (By similarity).|Interaction with HIPK2.|Oligomerization.		R -> L (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (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.R342*(70)|p.0?(8)|p.R342fs*3(8)|p.?(1)|p.R342_N345delRELN(1)|p.I332fs*5(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)		TTCAGCTCTCGGAACATCTCG	0.557		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)			A	7574003	G	A	7574003	4	1	743	1	0	0	0	0	0	1	0	0	16482	1124	39	1	165	1	TP53	17	7574003	Nonsense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08		7574003	73621207	45	56243											
TP53	7157	broad.mit.edu	37	chr17	7579420	7579420	+	Frame_Shift_Del	DEL	G	G	-																															gaagatgacaggggccaggaGggggctggtgcaggggccgc																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:7579420delG	ENST00000420246.2	-	4	399	c.267delC	c.(265-267)cccfs	p.P89fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P89fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.P89fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P89fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	89	Interaction with WWOX.		P -> L (in sporadic cancers; somatic mutation).|P -> S (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.0?(8)|p.S90fs*59(6)|p.A76_S90del15(3)|p.A88fs*32(3)|p.G59fs*23(3)|p.V73fs*9(1)|p.D48fs*55(1)|p.P85fs*58(1)|p.S33fs*23(1)|p.A86fs*33(1)|p.A86fs*32(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.A88fs*52(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)		GGGGCCAGGAGGGGGCTGGTG	0.627		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)			-	7579420	G	-	7579420	7	5	743	1	0	1	0	1	0	0	0	0	16482	987	35	0	1035	0	TP53	17	7579420	Frame_Shift_Del	DEL	G	TCGA-TM-A7CA-01A-21D-A33T-08	5417	7579420	73615790	46	56244											
RPS6KB1	6198	broad.mit.edu	37	chr17	57990092	57990092	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctcagaaactagtgtgaAcagagggccagaaaaaatca	19	6	9	7	0	2	4	2	1	1	3	3	4	2	4	1	1	2	0	1	1	7	1			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:57990092A>G	ENST00000225577.4	+	3	260	c.239A>G	c.(238-240)aAc>aGc	p.N80S	RPS6KB1_ENST00000393021.3_Missense_Mutation_p.N27S|RPS6KB1_ENST00000406116.3_Missense_Mutation_p.N80S|RPS6KB1_ENST00000443572.2_Missense_Mutation_p.N80S	NM_001272042.1|NM_001272044.1|NM_001272060.1|NM_003161.2	NP_001258971.1|NP_001258973.1|NP_001258989.1|NP_003152.1	P23443	KS6B1_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 1	80					apoptosis|G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|negative regulation of apoptosis|phosphatidylinositol-mediated signaling|positive regulation of mitotic cell cycle|positive regulation of translational initiation|TOR signaling cascade	cell junction|cytoplasm|cytosol|mitochondrial outer membrane|nucleus|synapse|synaptosome	ATP binding|protein binding|protein kinase activity			endometrium(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	14	all_cancers(5;1.63e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;3.57e-12)|all cancers(12;6.41e-11)			ACTAGTGTGAACAGAGGGCCA	0.368													G	57990092	A	G	57990092	3	3	743	1	0	0	0	0	1	0	0	0	13747	43	2	3	249	3	RPS6KB1	17	57990092	Missense_Mutation	SNP	A	TCGA-TM-A7CA-01A-21D-A33T-08	50410672	57990092	23205118	47	56245											
TMC6	11322	broad.mit.edu	37	chr17	76109632	76109636	+	Frame_Shift_Del	DEL	CTCCT	CTCCT	-																															cctccacggaccctcacctgCtcctctcctccctctccttc																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr17:76109632_76109636delCTCCT	ENST00000590602.1	-	19	2506_2510	c.2347_2351delAGGAG	c.(2347-2352)aggagcfs	p.RS783fs	TMC6_ENST00000591436.1_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000322933.4_Frame_Shift_Del_p.RS362fs|TMC6_ENST00000322914.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000306591.7_Frame_Shift_Del_p.RS432fs|TMC6_ENST00000392467.3_Frame_Shift_Del_p.RS783fs|TMC6_ENST00000592076.1_5'UTR			Q7Z403	TMC6_HUMAN	transmembrane channel-like 6	783						endoplasmic reticulum membrane|integral to membrane				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(1)	14			BRCA - Breast invasive adenocarcinoma(99;0.00269)|Lung(188;0.0973)			CCCTCACCTGCTCCTCTCCTCCCTC	0.576													-	76109636	CTCCT	-	76109632	7	5	743	1	0	1	0	1	0	0	0	0	16089	797	28	0	74	0	TMC6	17	76109632	Frame_Shift_Del	DEL	CTCCT	TCGA-TM-A7CA-01A-21D-A33T-08	18119540	76109632	5085578	48	56246											
CEP76	79959	broad.mit.edu	37	chr18	12686414	12686415	+	Frame_Shift_Del	DEL	AT	AT	-																															ccagctcgaagtggtttaacAtaggaacagactggtctatt																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr18:12686414_12686415delAT	ENST00000262127.2	-	8	1193_1194	c.968_969delAT	c.(967-969)tatfs	p.Y323fs	CEP76_ENST00000423709.2_Frame_Shift_Del_p.Y248fs|PSMG2_ENST00000589405.1_3'UTR|PSMG2_ENST00000585331.2_Intron	NM_024899.2	NP_079175.2	Q8TAP6	CEP76_HUMAN	centrosomal protein 76kDa	323					G2/M transition of mitotic cell cycle|regulation of centriole replication	centriole|cytosol	protein binding			endometrium(1)|kidney(3)|large_intestine(5)|lung(7)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						GTGGTTTAACATAGGAACAGAC	0.396													-	12686415	AT	-	12686414	7	5	743	1	0	1	0	1	0	0	0	0	3291	224	8	0	1030	0	CEP76	18	12686414	Frame_Shift_Del	DEL	AT	TCGA-TM-A7CA-01A-21D-A33T-08		12686414	65390834	49	56247											
ZNF44	51710	broad.mit.edu	37	chr19	12360811	12360811	+	Frame_Shift_Del	DEL	T	T	-																															acctgagatttctcccctggTttttgtactgctcttcaatg																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:12360811delT	ENST00000426973.1	-	3	202	c.203delA	c.(202-204)aacfs	p.N68fs				P15621	ZNF44_HUMAN	zinc finger protein 44	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|microtubule cytoskeleton|nucleus	DNA binding|protein binding|zinc ion binding			ovary(1)	1		Renal(1328;0.157)		GBM - Glioblastoma multiforme(1328;0.0164)|Lung(535;0.179)		TCTCCCCTGGTTTTTGTACTG	0.294													-	12360811	T	-	12360811	7	5	743	1	0	1	0	1	0	0	0	0	18013	1740	60	0		0	ZNF44	19	12360811	Frame_Shift_Del	DEL	T	TCGA-TM-A7CA-01A-21D-A33T-08		12360811	46768172	50	56248											
HAPLN4	404037	broad.mit.edu	37	chr19	19371787	19371787	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggtagctgccgaatgcccGgtgctgggggcctagtgcca	6	7	16	12	3	0	0	0	0	0	0	0	1	0	0	4	4	5	3	4	4	3	2			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:19371787G>A	ENST00000291481.7	-	3	382	c.319C>T	c.(319-321)Cgg>Tgg	p.R107W	AC138430.4_ENST00000586064.2_RNA	NM_023002.2	NP_075378.1	Q86UW8	HPLN4_HUMAN	hyaluronan and proteoglycan link protein 4	107	Ig-like C2-type.				cell adhesion	proteinaceous extracellular matrix	hyaluronic acid binding			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(7)|pancreas(1)|prostate(1)	16			Epithelial(12;0.00575)			CCGAATGCCCGGTGCTGGGGG	0.701													A	19371787	G	A	19371787	3	1	743	1	0	0	0	0	1	0	0	0	7012	1115	39	1	901	1	HAPLN4	19	19371787	Missense_Mutation	SNP	G	TCGA-TM-A7CA-01A-21D-A33T-08	7010976	19371787	39757196	51	56249											
DLL3	10683	broad.mit.edu	37	chr19	39989627	39989627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaggccatggtctccccaCggatgtccgggctcctctcc	6	8	11	16	2	2	1	0	0	2	1	6	2	4	2	6	4	0	1	6	4	1	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr19:39989627C>G	ENST00000205143.4	+	1	20	c.13C>G	c.(13-15)Cgg>Ggg	p.R5G	DLL3_ENST00000600579.1_3'UTR|DLL3_ENST00000356433.5_Missense_Mutation_p.R5G	NM_016941.3	NP_058637.1	Q9NYJ7	DLL3_HUMAN	delta-like 3 (Drosophila)	5					Notch signaling pathway|skeletal system development	integral to membrane	Notch binding			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)	19	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;5.89e-26)|all cancers(26;1.96e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTCTCCCCACGGATGTCCGG	0.622													G	39989627	C	G	39989627	3	3	743	1	0	0	0	0	1	0	0	0	4606	527	19	4	15	4	DLL3	19	39989627	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08	20617840	39989627	19139356	52	56250											
PROKR2	128674	broad.mit.edu	37	chr20	5282783	5282783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctcccccgctgggagggaCgccagtgcagcagcatcatc	7	6	13	15	2	1	0	1	0	0	0	3	2	2	2	3	2	4	5	3	2	0	0			TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chr20:5282783C>T	ENST00000546004.1	-	3	1304	c.1058G>A	c.(1057-1059)cGt>cAt	p.R353H	PROKR2_ENST00000217270.3_Missense_Mutation_p.R353H			Q8NFJ6	PKR2_HUMAN	prokineticin receptor 2	353						integral to membrane|plasma membrane	neuropeptide Y receptor activity	p.R353H(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(3)|lung(22)|ovary(5)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	53						CTGGGAGGGACGCCAGTGCAG	0.557										HNSCC(71;0.22)			T	5282783	C	T	5282783	3	4	743	1	0	0	0	0	1	0	0	0	12639	536	19	1	99	1	PROKR2	20	5282783	Missense_Mutation	SNP	C	TCGA-TM-A7CA-01A-21D-A33T-08		5282783	57742737	53	56251											
ATRX	546	broad.mit.edu	37	chrX	76890157	76890158	+	Frame_Shift_Del	DEL	CA	CA	-																															ggagatttctttgtttttttCacagactcacagcagcaatc																										TCGA-TM-A7CA-01A-21D-A33T-08	TCGA-TM-A7CA-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d8384872-7d5e-4617-82d3-55963c77cf74	365a4b79-2cc1-4d61-aa6e-f2e03cfe6924	g.chrX:76890157_76890158delCA	ENST00000373344.5	-	17	4950_4951	c.4736_4737delTG	c.(4735-4737)gtgfs	p.V1579fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.V1541fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1579					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)	TTGTTTTTTTCACAGACTCACA	0.366			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76890158	CA	-	76890157	7	5	743	1	0	1	0	1	0	0	0	0	1213	813	29	0	2817	0	ATRX	23	76890157	Frame_Shift_Del	DEL	CA	TCGA-TM-A7CA-01A-21D-A33T-08		76890157	78380403	54	56252											
THRAP3	9967	broad.mit.edu	37	chr1	36752690	36752690	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catcccagatgggctcaactCtgccgagtggtgccgggtat	7	9	13	12	2	2	1	1	0	1	1	3	2	3	1	3	3	3	2	3	3	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:36752690C>G	ENST00000354618.5	+	4	1083	c.859C>G	c.(859-861)Ctg>Gtg	p.L287V	THRAP3_ENST00000469141.2_Missense_Mutation_p.L287V	NM_005119.3	NP_005110.2	Q9Y2W1	TR150_HUMAN	thyroid hormone receptor associated protein 3	287	Ser-rich.				androgen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	ATP binding|ligand-dependent nuclear receptor transcription coactivator activity|receptor activity|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			breast(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(5)|stomach(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGCTCAACTCTGCCGAGTGG	0.602			T	USP6	aneurysmal bone cysts								G	36752690	C	G	36752690	3	3	744	1	0	0	0	0	1	0	0	0	15974	912	32	4	865	4	THRAP3	1	36752690	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		36752690	212497931	1	56253											
CELSR2	1952	broad.mit.edu	37	chr1	109810235	109810235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaacctcttcaactgcacgTccatcaccttctcagaactg	11	10	4	16	1	4	1	3	0	2	1	6	1	5	1	3	0	4	1	3	0	3	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr1:109810235T>C	ENST00000271332.3	+	16	6140	c.6079T>C	c.(6079-6081)Tcc>Ccc	p.S2027P		NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2	2027					dendrite morphogenesis|homophilic cell adhesion|neural plate anterior/posterior regionalization|neuropeptide signaling pathway|regulation of cell-cell adhesion|regulation of transcription, DNA-dependent|Wnt receptor signaling pathway	cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		CAACTGCACGTCCATCACCTT	0.592													C	109810235	T	C	109810235	3	2	744	1	0	0	0	0	1	0	0	0	3252	1667	58	3	6141	3	CELSR2	1	109810235	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	73057545	109810235	139440386	2	56254											
OTOF	9381	broad.mit.edu	37	chr2	26690046	26690046	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccccgaagcaagttgaaaGtgtgcagccagtcctcaaag	12	7	11	11	1	1	1	1	1	0	0	2	2	2	1	4	0	4	3	4	0	4	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:26690046G>A	ENST00000272371.2	-	35	4409	c.4283C>T	c.(4282-4284)aCt>aTt	p.T1428I	OTOF_ENST00000338581.6_Missense_Mutation_p.T661I|OTOF_ENST00000339598.3_Missense_Mutation_p.T661I|OTOF_ENST00000403946.3_Missense_Mutation_p.T1428I|OTOF_ENST00000402415.3_Missense_Mutation_p.T738I	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	1428					cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CAAGTTGAAAGTGTGCAGCCA	0.597													A	26690046	G	A	26690046	3	1	744	1	0	0	0	0	1	0	0	0	11379	1029	36	2	1943	2	OTOF	2	26690046	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		26690046	216509327	3	56255											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105912881	105912881	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagcctcttctactctgcGgcttgctagaagatcctgta	9	12	8	12	1	3	2	0	0	3	2	4	2	4	2	2	1	4	3	2	1	5	5			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:105912881G>A	ENST00000393359.2	-	4	1396	c.970C>T	c.(970-972)Cgc>Tgc	p.R324C	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.R324C			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	324					regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						TCTACTCTGCGGCTTGCTAGA	0.403													A	105912881	G	A	105912881	3	1	744	1	0	0	0	0	1	0	0	0	15924	1116	39	1	1648	1	TGFBRAP1	2	105912881	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	79222835	105912881	137286492	4	56256											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	744	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	103200231	209113112	34086261	5	56257											
USP37	57695	broad.mit.edu	37	chr2	219418378	219418378	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caagaagctgttatcttgcaGagttaacattaggcggcttt	11	13	10	7	1	1	2	0	0	1	2	1	2	1	2	0	2	3	5	0	2	5	5			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:219418378G>A	ENST00000258399.3	-	5	638	c.226C>T	c.(226-228)Ctg>Ttg	p.L76L	USP37_ENST00000454775.1_Silent_p.L76L|USP37_ENST00000418019.1_Silent_p.L76L|USP37_ENST00000338465.5_Silent_p.L76L|USP37_ENST00000415516.1_Silent_p.L4L	NM_020935.2	NP_065986	Q86T82	UBP37_HUMAN	ubiquitin specific peptidase 37	76					ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|ubiquitin thiolesterase activity			NS(2)|breast(3)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(5)|stomach(1)	35		Renal(207;0.0915)		Epithelial(149;1.08e-06)|all cancers(144;0.000197)|LUSC - Lung squamous cell carcinoma(224;0.00375)|Lung(261;0.00487)		TTATCTTGCAGAGTTAACATT	0.393													A	219418378	G	A	219418378	2	1	744	1	0	0	0	0	0	0	0	1	17170	933	33	2		2	USP37	2	219418378	Silent	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	10305266	219418378	23780995	6	56258											
GMPPA	29926	broad.mit.edu	37	chr2	220371481	220371481	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcgattgttctgccacacaaGgagctgagccgaagcttcac	10	9	10	12	2	2	1	1	1	1	0	3	4	2	2	2	1	4	3	2	1	2	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:220371481G>C	ENST00000358215.3	+	13	1593	c.1224G>C	c.(1222-1224)aaG>aaC	p.K408N	GMPPA_ENST00000341142.3_Missense_Mutation_p.K408N|GMPPA_ENST00000313597.5_Missense_Mutation_p.K408N|AC053503.11_ENST00000429882.1_RNA|GMPPA_ENST00000373917.3_Missense_Mutation_p.K461N|GMPPA_ENST00000373908.1_Missense_Mutation_p.K408N	NM_205847.2	NP_995319.1	Q96IJ6	GMPPA_HUMAN	GDP-mannose pyrophosphorylase A	408					dolichol-linked oligosaccharide biosynthetic process|GDP-mannose biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine		GTP binding|mannose-1-phosphate guanylyltransferase activity			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	20		Renal(207;0.0183)		Epithelial(149;3.82e-10)|all cancers(144;6.25e-08)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00807)|READ - Rectum adenocarcinoma(5;0.148)		TGCCACACAAGGAGCTGAGCC	0.617													C	220371481	G	C	220371481	3	2	744	1	0	0	0	0	1	0	0	0	6550	991	35	4	1270	4	GMPPA	2	220371481	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	953103	220371481	22827892	7	56259											
DOCK10	55619	broad.mit.edu	37	chr2	225740826	225740826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caggactgatttgcagaatgCggttgagggtgtggatccat	9	11	15	6	1	0	3	0	2	0	1	1	5	1	5	1	4	2	2	1	4	1	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:225740826C>T	ENST00000409592.3	-	8	955	c.842G>A	c.(841-843)cGc>cAc	p.R281H	DOCK10_ENST00000258390.7_Missense_Mutation_p.R287H			Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	287	PH.						GTP binding	p.R287H(1)		NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TTGCAGAATGCGGTTGAGGGT	0.488													T	225740826	C	T	225740826	3	4	744	1	0	0	0	0	1	0	0	0	4724	768	27	1	5896	1	DOCK10	2	225740826	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	5369345	225740826	17458547	8	56260											
OTOS	150677	broad.mit.edu	37	chr2	241078762	241078762	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggcatggccggcagctccGcgtaagggtctgaaagacac	10	5	15	11	3	1	2	0	1	1	1	2	2	2	2	2	4	1	4	2	4	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr2:241078762G>A	ENST00000391989.2	-	5	325	c.95C>T	c.(94-96)gCg>gTg	p.A32V	OTOS_ENST00000319460.1_Missense_Mutation_p.A32V			Q8NHW6	OTOSP_HUMAN	otospiralin	32						extracellular region				endometrium(2)|large_intestine(1)|lung(3)	6		all_epithelial(40;2.79e-15)|Breast(86;3.04e-05)|Renal(207;0.00183)|Ovarian(221;0.0228)|all_lung(227;0.0396)|Lung NSC(271;0.128)|Hepatocellular(293;0.148)|all_hematologic(139;0.158)|Melanoma(123;0.16)		Epithelial(32;2.56e-30)|all cancers(36;7.18e-28)|OV - Ovarian serous cystadenocarcinoma(60;2.37e-14)|Kidney(56;2.99e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;8.07e-06)|Lung(119;0.00344)|LUSC - Lung squamous cell carcinoma(224;0.0148)|Colorectal(34;0.019)|COAD - Colon adenocarcinoma(134;0.141)		CGGCAGCTCCGCGTAAGGGTC	0.602													A	241078762	G	A	241078762	3	1	744	1	0	0	0	0	1	0	0	0	11385	1087	38	1	178	1	OTOS	2	241078762	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	15337936	241078762	2120611	9	56261											
IQSEC1	9922	broad.mit.edu	37	chr3	12950911	12950911	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctccggggacagacgaggTgagccggatgccattggggt	7	7	18	9	3	0	2	0	1	0	1	1	5	1	4	3	6	3	1	3	6	0	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:12950911T>G	ENST00000273221.4	-	11	2698	c.2482A>C	c.(2482-2484)Acc>Ccc	p.T828P		NM_014869.5	NP_055684.3	Q6DN90	IQEC1_HUMAN	IQ motif and Sec7 domain 1	828	PH.				regulation of ARF protein signal transduction	cytoplasm|nucleus	ARF guanyl-nucleotide exchange factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						ACAGACGAGGTGAGCCGGATG	0.547													G	12950911	T	G	12950911	3	3	744	1	0	0	0	0	1	0	0	0	7875	1696	59	5	970	5	IQSEC1	3	12950911	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08		12950911	185071519	10	56262											
ADAMTS9	56999	broad.mit.edu	37	chr3	64640136	64640136	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttcccagttcagccaggccTattagaaggaaaaaaaccaa	16	7	8	10	0	1	1	1	0	0	1	2	2	2	2	4	2	2	2	4	2	7	4			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:64640136T>C	ENST00000498707.1	-	8	1553		c.e8-2		ADAMTS9_ENST00000459780.1_Splice_Site|ADAMTS9_ENST00000295903.4_Splice_Site	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9						glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		CAGCCAGGCCTATTAGAAGGA	0.403													C	64640136	T	C	64640136	5	2	744	1	0	0	0	0	0	0	1	0	273	1536	53	3	4726	3	ADAMTS9	3	64640136	Splice_Site	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	51689225	64640136	133382294	11	56263											
MECOM	2122	broad.mit.edu	37	chr3	168833702	168833702	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cattcacagctcctgacaccGcagtctgctcctctaaagat	10	10	6	15	1	3	2	1	1	2	1	5	2	5	2	3	0	2	3	3	0	2	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:168833702G>A	ENST00000464456.1	-	7	2594	c.1394C>T	c.(1393-1395)gCg>gTg	p.A465V	MECOM_ENST00000494292.1_Missense_Mutation_p.A653V|MECOM_ENST00000392736.3_Missense_Mutation_p.A465V|MECOM_ENST00000468789.1_Missense_Mutation_p.A465V|MECOM_ENST00000433243.2_Missense_Mutation_p.A466V|MECOM_ENST00000264674.3_Missense_Mutation_p.A530V|MECOM_ENST00000460814.1_Missense_Mutation_p.A465V|MECOM_ENST00000472280.1_Missense_Mutation_p.A466V	NM_001164000.1	NP_001157472.1	Q13465	MDS1_HUMAN	MDS1 and EVI1 complex locus	0							sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(9)|kidney(4)|large_intestine(13)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(2)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	85						TCCTGACACCGCAGTCTGCTC	0.388													A	168833702	G	A	168833702	3	1	744	1	0	0	0	0	1	0	0	0	9497	1087	38	1	1801	1	MECOM	3	168833702	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	104193566	168833702	29188728	12	56264											
SLC7A14	57709	broad.mit.edu	37	chr3	170198095	170198095	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacccacaaagcaccagaccGcaaaccggatccatgtgatg	14	5	8	14	2	0	2	0	1	0	1	1	3	1	3	5	1	3	2	5	1	3	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr3:170198095G>A	ENST00000231706.5	-	7	2291	c.1976C>T	c.(1975-1977)gCg>gTg	p.A659V	CLDN11_ENST00000486975.1_Intron|CLDN11_ENST00000451576.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14							integral to membrane	amino acid transmembrane transporter activity	p.A659V(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			GCACCAGACCGCAAACCGGAT	0.498													A	170198095	G	A	170198095	3	1	744	1	0	0	0	0	1	0	0	0	14790	1087	38	1	347	1	SLC7A14	3	170198095	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	1364393	170198095	27824335	13	56265											
UGT2B7	7364	broad.mit.edu	37	chr4	69973922	69973922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggggattccattgtttgccGatcaacctgataacattgct	9	14	9	9	1	1	1	1	1	0	0	2	3	2	2	3	2	4	2	3	2	2	5	rs145725367		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:69973922G>A	ENST00000305231.7	+	5	1238	c.1192G>A	c.(1192-1194)Gat>Aat	p.D398N	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	398					lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity			autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						ATTGTTTGCCGATCAACCTGA	0.473													A	69973922	G	A	69973922	3	1	744	1	0	0	0	0	1	0	0	0	17064	1058	37	1	1210	1	UGT2B7	4	69973922	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		69973922	121180354	14	56266											
FRAS1	80144	broad.mit.edu	37	chr4	79462267	79462267	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acaacaatttacaagatggaAcagaagtttaatggaggaga	19	8	10	4	0	0	3	0	0	0	3	0	6	0	5	0	3	3	1	0	3	7	4			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:79462267A>C	ENST00000264895.6	+	74	12468	c.12028A>C	c.(12028-12030)Aca>Cca	p.T4010P		NM_025074.6	NP_079350.5	Q86XX4	FRAS1_HUMAN	Fraser syndrome 1	4005					cell communication	integral to membrane|plasma membrane	metal ion binding			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(5)|lung(54)|prostate(7)|skin(2)|urinary_tract(4)	103						ACAAGATGGAACAGAAGTTTA	0.353													C	79462267	A	C	79462267	3	2	744	1	0	0	0	0	1	0	0	0	6093	43	2	5	12397	5	FRAS1	4	79462267	Missense_Mutation	SNP	A	TCGA-TM-A7CF-01A-11D-A32B-08	9488345	79462267	111692009	15	56267											
FGA	2243	broad.mit.edu	37	chr4	155505941	155505941	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tagcttgatattgaaaatgcCactttgggtacctgaaggat	12	13	10	6	0	0	3	0	3	0	0	0	4	0	4	2	2	3	2	2	2	6	6			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr4:155505941C>A	ENST00000302053.3	-	6	2014	c.1936G>T	c.(1936-1938)Ggc>Tgc	p.G646C		NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	646	Fibrinogen C-terminal.				platelet activation|platelet degranulation|protein polymerization|response to calcium ion|signal transduction	external side of plasma membrane|fibrinogen complex|platelet alpha granule lumen	eukaryotic cell surface binding|protein binding, bridging|receptor binding			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	TTGAAAATGCCACTTTGGGTA	0.373													A	155505941	C	A	155505941	3	1	744	1	0	0	0	0	1	0	0	0	5879	594	21	4	668	4	FGA	4	155505941	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	76043674	155505941	35648335	16	56268											
FASTKD3	79072	broad.mit.edu	37	chr5	7867503	7867504	+	Frame_Shift_Del	DEL	CT	CT	-																															gagttctagtgtcacacaacCtgaactgtgcagtgtaatca																										TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:7867503_7867504delCT	ENST00000264669.5	-	2	829_830	c.693_694delAG	c.(691-696)tcaggtfs	p.G232fs	MTRR_ENST00000502509.1_Intron|FASTKD3_ENST00000513658.1_Intron	NM_024091.3	NP_076996.2	Q14CZ7	FAKD3_HUMAN	FAST kinase domains 3	232					apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(2)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GTCACACAACCTGAACTGTGCA	0.421													-	7867504	CT	-	7867503	7	5	744	1	0	1	0	1	0	0	0	0	5736	681	24	0	1318	0	FASTKD3	5	7867503	Frame_Shift_Del	DEL	CT	TCGA-TM-A7CF-01A-11D-A32B-08		7867503	173047757	17	56269											
GPR98	84059	broad.mit.edu	37	chr5	89989828	89989828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatctccaattcaaggggtgCctgacccactttggagaact	11	10	9	11	0	2	2	1	1	1	1	3	3	2	2	3	3	2	0	3	3	4	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr5:89989828C>G	ENST00000405460.2	+	33	7351	c.7255C>G	c.(7255-7257)Cct>Gct	p.P2419A		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2419					cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCAAGGGGTGCCTGACCCACT	0.488													G	89989828	C	G	89989828	3	3	744	1	0	0	0	0	1	0	0	0	6776	739	26	4	7385	4	GPR98	5	89989828	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	82122325	89989828	90925432	18	56270											
PPP1R10	5514	broad.mit.edu	37	chr6	30570090	30570090	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcatgggggcgatgcccaCttcccatgccaccgccaggg	6	7	12	16	2	1	0	1	0	0	0	2	1	2	0	5	3	2	0	5	3	0	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:30570090C>T	ENST00000376511.2	-	19	2888	c.2336G>A	c.(2335-2337)aGt>aAt	p.S779N		NM_002714.3	NP_002705.2	Q96QC0	PP1RA_HUMAN	protein phosphatase 1, regulatory subunit 10	779	Gly-rich.				protein import into nucleus|transcription, DNA-dependent	PTW/PP1 phosphatase complex	DNA binding|protein phosphatase inhibitor activity|RNA binding|zinc ion binding			cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(3)|skin(1)	25						GCGATGCCCACTTCCCATGCC	0.672													T	30570090	C	T	30570090	3	4	744	1	0	0	0	0	1	0	0	0	12434	565	20	2	494	2	PPP1R10	6	30570090	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		30570090	140544977	19	56271											
TMEM14A	28978	broad.mit.edu	37	chr6	52548949	52548949	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaaataatgcctgctggtttGgttgcaggtttaaggtaagt	11	14	12	4	0	0	0	0	0	0	0	0	0	0	0	1	4	3	6	1	4	5	6			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:52548949G>C	ENST00000211314.4	+	4	399	c.246G>C	c.(244-246)ttG>ttC	p.L82F		NM_014051.3	NP_054770.1	Q9Y6G1	TM14A_HUMAN	transmembrane protein 14A	82						integral to membrane				endometrium(2)|lung(2)	4	Lung NSC(77;0.118)					CTGCTGGTTTGGTTGCAGGTT	0.348													C	52548949	G	C	52548949	3	2	744	1	0	0	0	0	1	0	0	0	16163	1339	47	4	256	4	TMEM14A	6	52548949	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	21978859	52548949	118566118	20	56272											
RNGTT	8732	broad.mit.edu	37	chr6	89638748	89638748	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattaaaccgctcacacagaCgaataaaggtctcagtattc	15	9	6	11	2	2	1	2	0	1	1	4	2	2	1	1	1	1	2	1	1	6	4			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr6:89638748C>T	ENST00000369485.4	-	4	509	c.323G>A	c.(322-324)cGt>cAt	p.R108H	RNGTT_ENST00000265607.6_Missense_Mutation_p.R108H|RNGTT_ENST00000538899.1_Missense_Mutation_p.R48H|RNGTT_ENST00000369475.3_Missense_Mutation_p.R108H	NM_003800.3	NP_003791.3	O60942	MCE1_HUMAN	RNA guanylyltransferase and 5'-phosphatase	108	TPase.				interspecies interaction between organisms|mRNA capping|transcription from RNA polymerase II promoter|viral reproduction	nucleoplasm	GTP binding|mRNA guanylyltransferase activity|polynucleotide 5'-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.R108H(1)		endometrium(1)|large_intestine(7)|lung(6)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	21		all_cancers(76;4.07e-09)|Prostate(29;1.16e-10)|Acute lymphoblastic leukemia(125;1.49e-10)|all_hematologic(105;7.79e-07)|all_epithelial(107;6.86e-05)		BRCA - Breast invasive adenocarcinoma(108;0.151)		CTCACACAGACGAATAAAGGT	0.343													T	89638748	C	T	89638748	3	4	744	1	0	0	0	0	1	0	0	0	13594	536	19	1	1522	1	RNGTT	6	89638748	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	37089799	89638748	81476319	21	56273											
ALDH1B1	219	broad.mit.edu	37	chr9	38396184	38396184	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaggtcatcaaggtgtatCggtactttgctggctgggct	7	13	14	7	1	2	1	2	1	0	0	3	1	2	1	0	5	2	5	0	5	3	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:38396184C>A	ENST00000377698.3	+	2	592	c.439C>A	c.(439-441)Cgg>Agg	p.R147R		NM_000692.4	NP_000683.3	P30837	AL1B1_HUMAN	aldehyde dehydrogenase 1 family, member B1	147					carbohydrate metabolic process	mitochondrial matrix|nucleus	aldehyde dehydrogenase (NAD) activity			NS(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(2)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(29;0.043)|Lung(182;0.115)	NADH(DB00157)	CAAGGTGTATCGGTACTTTGC	0.557													A	38396184	C	A	38396184	2	1	744	1	0	0	0	0	0	0	0	1	493	875	31	4		4	ALDH1B1	9	38396184	Silent	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		38396184	102817247	22	56274											
NOTCH1	4851	broad.mit.edu	37	chr9	139404380	139404380	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cgcagaaggccgtgttgatgCcgtctgtgcaggagcccccg	6	7	15	13	4	1	2	0	1	1	1	1	3	1	3	4	2	3	3	4	2	1	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr9:139404380C>T	ENST00000277541.6	-	18	2849	c.2774G>A	c.(2773-2775)gGc>gAc	p.G925D		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	925	EGF-like 24.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CGTGTTGATGCCGTCTGTGCA	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139404380	C	T	139404380	3	4	744	1	0	0	0	0	1	0	0	0	10623	739	26	2	4961	2	NOTCH1	9	139404380	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	101008196	139404380	1809051	23	56275											
OR52E4	390081	broad.mit.edu	37	chr11	5906021	5906021	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catttgtgtttctcattctgCgtctgccattctgtgggcat	4	18	9	10	1	4	0	1	0	4	0	5	0	4	0	1	1	2	2	1	1	0	4			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:5906021C>T	ENST00000316987.2	+	1	521	c.499C>T	c.(499-501)Cgt>Tgt	p.R167C		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	167					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R167G(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCTCATTCTGCGTCTGCCATT	0.453													T	5906021	C	T	5906021	3	4	744	1	0	0	0	0	1	0	0	0	11192	768	27	1	501	1	OR52E4	11	5906021	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		5906021	129100495	24	56276											
DCDC1	341019	broad.mit.edu	37	chr11	30942332	30942332	+	Translation_Start_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgattacttacagaatttcaCtggaagcattttccgttgtt	10	17	7	7	1	1	2	1	1	0	1	2	3	2	3	1	1	3	3	1	1	4	7			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:30942332C>T	ENST00000406071.2	-	0	920				DCDC1_ENST00000597505.1_Missense_Mutation_p.S1095N|DCDC1_ENST00000339794.5_Missense_Mutation_p.S174N			P59894	DCDC1_HUMAN	doublecortin domain containing 1						intracellular signal transduction					central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|pancreas(2)|prostate(1)|skin(1)|stomach(1)	31	Lung SC(675;0.225)					CAGAATTTCACTGGAAGCATT	0.438													T	30942332	C	T	30942332	1	4	744	1	0	0	0	0	0	0	0	0	4318	580	20	2		2	DCDC1	11	30942332	Translation_Start_Site	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	25036311	30942332	104064184	25	56277											
PKNOX2	63876	broad.mit.edu	37	chr11	125299879	125299879	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttcatcaatgcccggaggcGcatcctgcagcccatgcttg	7	9	11	14	2	2	0	2	0	0	0	3	1	3	1	3	2	4	4	3	2	1	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr11:125299879G>A	ENST00000298282.9	+	12	1305	c.1034G>A	c.(1033-1035)cGc>cAc	p.R345H	PKNOX2_ENST00000542175.1_Missense_Mutation_p.R281H|PKNOX2_ENST00000530517.1_3'UTR	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	345						nucleus	sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		GCCCGGAGGCGCATCCTGCAG	0.597													A	125299879	G	A	125299879	3	1	744	1	0	0	0	0	1	0	0	0	12060	1087	38	1	1068	1	PKNOX2	11	125299879	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	94357547	125299879	9706637	26	56278											
LPCAT3	10162	broad.mit.edu	37	chr12	7086824	7086824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccaggtatcctgagtgcaggCcgtgccagagggccaggaat	9	6	15	11	1	0	2	0	1	0	1	1	3	1	3	5	4	2	2	5	4	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:7086824C>T	ENST00000261407.4	-	10	1209	c.1124G>A	c.(1123-1125)gGc>gAc	p.G375D	LPCAT3_ENST00000535021.1_Intron	NM_005768.5	NP_005759.4	Q6P1A2	MBOA5_HUMAN	lysophosphatidylcholine acyltransferase 3	375					phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerophosphocholine O-acyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(2)	17						TGAGTGCAGGCCGTGCCAGAG	0.507													T	7086824	C	T	7086824	3	4	744	1	0	0	0	0	1	0	0	0	8982	739	26	2	351	2	LPCAT3	12	7086824	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		7086824	126765071	27	56279											
CLEC6A	93978	broad.mit.edu	37	chr12	8612205	8612205	+	Missense_Mutation	SNP	T	T	G																															ctttacagtaacttaccattTtacatatggtgaaactggca																										TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612205T>G	ENST00000382073.3	+	3	320	c.134T>G	c.(133-135)tTt>tGt	p.F45C		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	45					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					ACTTACCATTTTACATATGGT	0.393													G	8612205	T	G	8612205	3	3	744	1	0	0	0	0	1	0	0	0	3551	1841	64	5	144	5	CLEC6A	12	8612205	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	1525381	8612205	125239690	28	56280	177	2									
CLEC6A	93978	broad.mit.edu	37	chr12	8612215	8612215	+	Silent	SNP	T	T	G																															acttaccattttacatatggTgaaactggcaaaaggctgtc																										TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:8612215T>G	ENST00000382073.3	+	3	330	c.144T>G	c.(142-144)ggT>ggG	p.G48G		NM_001007033.1	NP_001007034.1	Q6EIG7	CLC6A_HUMAN	C-type lectin domain family 6, member A	48					defense response to fungus|innate immune response|positive regulation of cytokine secretion|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to membrane	sugar binding			breast(1)|large_intestine(2)|lung(7)	10	Lung SC(5;0.184)					TTACATATGGTGAAACTGGCA	0.378													G	8612215	T	G	8612215	2	3	744	1	0	0	0	0	0	0	0	1	3551	1683	59	5		5	CLEC6A	12	8612215	Silent	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	10	8612215	125239680	29	56281	177	2									
KRT81	3887	broad.mit.edu	37	chr12	52685222	52685222	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgagatgcagctgaaggcgcGcccaccaaatcctgatccgc	10	5	11	15	4	0	3	0	2	0	1	2	4	2	3	4	1	2	2	4	1	2	0			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:52685222G>A	ENST00000327741.5	-	1	96	c.28C>T	c.(28-30)Cgc>Tgc	p.R10C	KRT86_ENST00000544024.1_Intron|KRT86_ENST00000423955.2_Intron	NM_002281.3	NP_002272.2	Q14533	KRT81_HUMAN	keratin 81	10	Head.					keratin filament	protein binding|structural molecule activity			breast(2)|endometrium(3)|large_intestine(3)|lung(6)|prostate(1)|stomach(1)	16				BRCA - Breast invasive adenocarcinoma(357;0.189)		CTGAAGGCGCGCCCACCAAAT	0.657													A	52685222	G	A	52685222	3	1	744	1	0	0	0	0	1	0	0	0	8553	1087	38	1	1525	1	KRT81	12	52685222	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	44073007	52685222	81166673	30	56282											
MYO1H	283446	broad.mit.edu	37	chr12	109831174	109831174	+	Frame_Shift_Del	DEL	C	C	-																															cttgtgtctgtgaatccataCcaggagctcggaatctacac																										TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr12:109831174delC	ENST00000310903.5	+	3	271	c.165delC	c.(163-165)tacfs	p.Y55fs	MYO1H_ENST00000431443.2_Frame_Shift_Del_p.Y55fs			B4DNW6	B4DNW6_HUMAN	myosin IH	181						myosin complex	motor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(17)|prostate(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	47						TGAATCCATACCAGGAGCTCG	0.453													-	109831174	C	-	109831174	7	5	744	1	0	1	0	1	0	0	0	0	10151	518	18	0	171	0	MYO1H	12	109831174	Frame_Shift_Del	DEL	C	TCGA-TM-A7CF-01A-11D-A32B-08	57145952	109831174	24020721	31	56283											
RNF17	56163	broad.mit.edu	37	chr13	25399793	25399793	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttatttctattaaagacaAtcgaggaattctataaaagt	16	16	5	4	1	2	1	0	0	2	1	3	3	2	2	0	1	0	0	0	1	9	8			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:25399793A>G	ENST00000255324.5	+	16	2180	c.2128A>G	c.(2128-2130)Atc>Gtc	p.I710V	RNF17_ENST00000381921.1_Missense_Mutation_p.I710V	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	710					multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ATTAAAGACAATCGAGGAATT	0.333													G	25399793	A	G	25399793	3	3	744	1	0	0	0	0	1	0	0	0	13552	101	4	3	2190	3	RNF17	13	25399793	Missense_Mutation	SNP	A	TCGA-TM-A7CF-01A-11D-A32B-08		25399793	89770085	32	56284											
SMAD9	4093	broad.mit.edu	37	chr13	37439796	37439796	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acccatctatgagcacacttCgggaggaagcctggaatgtc	11	8	11	11	1	1	1	0	1	1	0	3	4	1	4	2	3	2	1	2	3	3	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr13:37439796C>T	ENST00000379826.4	-	5	1223	c.881G>A	c.(880-882)cGa>cAa	p.R294Q	SMAD9_ENST00000399275.2_Missense_Mutation_p.R294Q|SMAD9_ENST00000350148.5_Missense_Mutation_p.R257Q	NM_001127217.2	NP_001120689.1	O15198	SMAD9_HUMAN	SMAD family member 9	294	MH2.				BMP signaling pathway|transforming growth factor beta receptor signaling pathway	cytosol|transcription factor complex	sequence-specific DNA binding transcription factor activity|transforming growth factor beta receptor, pathway-specific cytoplasmic mediator activity			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)	18		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)		all cancers(112;3.38e-07)|Epithelial(112;1.93e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00804)|BRCA - Breast invasive adenocarcinoma(63;0.0129)|GBM - Glioblastoma multiforme(144;0.026)		GAGCACACTTCGGGAGGAAGC	0.473													T	37439796	C	T	37439796	3	4	744	1	0	0	0	0	1	0	0	0	14858	884	31	1	534	1	SMAD9	13	37439796	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	12040003	37439796	77730082	33	56285											
AKAP13	11214	broad.mit.edu	37	chr15	86287010	86287010	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaacaaagccaaaggaaaaGaaggagaaaaaaaagaagaa	27	2	9	3	0	0	4	0	0	0	4	0	6	0	5	1	2	2	0	1	2	12	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr15:86287010G>A	ENST00000394518.2	+	36	8441	c.8346G>A	c.(8344-8346)aaG>aaA	p.K2782K	AKAP13_ENST00000394510.2_Silent_p.K1027K|AKAP13_ENST00000560579.1_3'UTR|AKAP13_ENST00000361243.2_Silent_p.K2786K	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2782	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						CAAAGGAAAAGAAGGAGAAAA	0.542													A	86287010	G	A	86287010	2	1	744	1	0	0	0	0	0	0	0	1	449	933	33	2		2	AKAP13	15	86287010	Silent	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08		86287010	16244382	34	56286											
COQ9	57017	broad.mit.edu	37	chr16	57486804	57486804	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcagcccttgagtttgtgCccgcccacgggtggacagca	6	7	14	14	3	0	1	0	1	0	0	0	2	0	2	3	3	3	3	3	3	0	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:57486804C>T	ENST00000262507.6	+	3	403	c.334C>T	c.(334-336)Ccc>Tcc	p.P112S	COQ9_ENST00000567933.1_Missense_Mutation_p.P112S|COQ9_ENST00000567072.1_Missense_Mutation_p.P112S	NM_020312.3	NP_064708.1	O75208	COQ9_HUMAN	coenzyme Q9	112					ubiquinone biosynthetic process	mitochondrion		p.P112S(2)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)	16						TGAGTTTGTGCCCGCCCACGG	0.592													T	57486804	C	T	57486804	3	4	744	1	0	0	0	0	1	0	0	0	3782	739	26	2	344	2	COQ9	16	57486804	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		57486804	32867949	35	56287											
COTL1	23406	broad.mit.edu	37	chr16	84623755	84623755	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgtccgtcccggttttggCgcgctgcagcccgctgacgt	2	11	13	15	6	0	1	0	1	0	0	2	1	2	1	3	2	2	4	3	2	0	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr16:84623755C>T	ENST00000262428.4	-	3	436	c.274G>A	c.(274-276)Gcc>Acc	p.A92T	COTL1_ENST00000564057.1_Missense_Mutation_p.A23T	NM_021149.2	NP_066972.1	Q14019	COTL1_HUMAN	coactosin-like 1 (Dictyostelium)	92	ADF-H.					cytoplasm|cytoskeleton	actin binding|enzyme binding	p.A92T(1)		endometrium(1)|large_intestine(1)|liver(1)|lung(2)|skin(1)	6						CCGGTTTTGGCGCGCTGCAGC	0.597													T	84623755	C	T	84623755	3	4	744	1	0	0	0	0	1	0	0	0	3792	768	27	1	162	1	COTL1	16	84623755	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08	27136951	84623755	5730998	36	56288											
ITGAE	3682	broad.mit.edu	37	chr17	3661079	3661079	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgagggggtcctcgaatatgCcaccatcggtgagcaccacc	9	7	12	13	2	0	2	0	2	0	0	3	3	1	2	5	3	2	1	5	3	2	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:3661079C>T	ENST00000263087.4	-	9	1039	c.941G>A	c.(940-942)gGc>gAc	p.G314D		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	314	VWFA.				cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		CTCGAATATGCCACCATCGGT	0.547													T	3661079	C	T	3661079	3	4	744	1	0	0	0	0	1	0	0	0	7943	739	26	2	2690	2	ITGAE	17	3661079	Missense_Mutation	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		3661079	77534131	37	56289											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	744	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	3916042	7577121	73618089	38	56290											
TP53	7157	broad.mit.edu	37	chr17	7578206	7578206	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcatagggcaccaccacacTatgtcgaaaagtgtttctgt	11	11	8	11	1	2	0	1	0	1	0	3	1	2	0	2	1	0	2	2	1	4	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:7578206T>C	ENST00000420246.2	-	6	775	c.643A>G	c.(643-645)Agt>Ggt	p.S215G	TP53_ENST00000445888.2_Missense_Mutation_p.S215G|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.S215G|TP53_ENST00000413465.2_Missense_Mutation_p.S215G|TP53_ENST00000359597.4_Missense_Mutation_p.S215G|TP53_ENST00000455263.2_Missense_Mutation_p.S215G	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.0?(8)|p.S215G(6)|p.?(5)|p.S215C(5)|p.H214fs*5(2)|p.S215R(2)|p.D208fs*1(1)|p.R213_S215>X(1)|p.S215fs*32(1)|p.R209fs*6(1)|p.T211fs*28(1)|p.S215fs*31(1)|p.D207_V216del10(1)|p.S215fs*27(1)|p.H214fs*7(1)|p.R213fs*32(1)|p.T211_S215delTFRHS(1)|p.H214_S215insX(1)|p.S215del(1)|p.S215fs*29(1)|p.D208_V216delDRNTFRHSV(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)		ACCACCACACTATGTCGAAAA	0.537		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)			C	7578206	T	C	7578206	3	2	744	1	0	0	0	0	1	0	0	0	16482	1522	53	3	651	3	TP53	17	7578206	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	1085	7578206	73617004	39	56291											
NEUROD2	4761	broad.mit.edu	37	chr17	37762632	37762632	+	Frame_Shift_Del	DEL	T	T	-																															cccccagctcgccttcctccTtgacctcggccaacgtggcc																										TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr17:37762632delT	ENST00000302584.4	-	2	441	c.221delA	c.(220-222)aagfs	p.K74fs		NM_006160.3	NP_006151.3	Q15784	NDF2_HUMAN	neuronal differentiation 2	74					cellular response to calcium ion|cellular response to electrical stimulus|cerebellar cortex development|negative regulation of synapse maturation|positive regulation of calcium-mediated signaling|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of synapse maturation|positive regulation of synaptic plasticity|protein ubiquitination|regulation of transcription from RNA polymerase II promoter	nucleus	E-box binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			endometrium(1)|kidney(1)|large_intestine(2)|lung(4)	8	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|Lung(15;0.00549)|LUAD - Lung adenocarcinoma(14;0.0664)			gccttcctcctTGACCTCGGC	0.726													-	37762632	T	-	37762632	7	5	744	1	0	1	0	1	0	0	0	0	10425	1609	56	0	931	0	NEUROD2	17	37762632	Frame_Shift_Del	DEL	T	TCGA-TM-A7CF-01A-11D-A32B-08	30184426	37762632	43432578	40	56292											
NOL4	8715	broad.mit.edu	37	chr18	31709985	31709985	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatctacccctacgccatcCtggaaacaaaacaacaacaa	17	6	3	15	1	2	0	1	0	1	0	3	1	3	1	4	1	6	0	4	1	8	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr18:31709985C>T	ENST00000261592.5	-	2	562		c.e2-1		NOL4_ENST00000535475.1_Splice_Site|NOL4_ENST00000589544.1_Splice_Site|NOL4_ENST00000538587.1_Splice_Site|NOL4_ENST00000269185.4_Splice_Site	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4							nucleolus	RNA binding			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						CTACGCCATCCTGGAAACAAA	0.343													T	31709985	C	T	31709985	5	4	744	1	0	0	0	0	0	0	1	0	10600	695	24	2	1692	2	NOL4	18	31709985	Splice_Site	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		31709985	46367263	41	56293											
HIRA	7290	broad.mit.edu	37	chr22	19381985	19381985	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgggcagacaccaggtaatgCccatcaggtgaccagctgag	11	6	13	11	0	1	3	1	2	0	1	1	3	1	3	3	3	2	3	3	3	1	1			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chr22:19381985C>A	ENST00000263208.5	-	8	958	c.702G>T	c.(700-702)ggG>ggT	p.G234G	HIRA_ENST00000340170.4_Silent_p.G234G|HIRA_ENST00000541063.1_Silent_p.G190G|HIRA_ENST00000546308.1_Silent_p.G190G	NM_003325.3	NP_003316.3	P54198	HIRA_HUMAN	histone cell cycle regulator	234					chromatin modification|regulation of transcription from RNA polymerase II promoter	PML body	chromatin binding|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)|prostate(1)|skin(1)	37	Colorectal(54;0.0993)					CCAGGTAATGCCCATCAGGTG	0.547													A	19381985	C	A	19381985	2	1	744	1	0	0	0	0	0	0	0	1	7175	726	26	4		4	HIRA	22	19381985	Silent	SNP	C	TCGA-TM-A7CF-01A-11D-A32B-08		19381985	31922581	42	56294											
ATP7A	538	broad.mit.edu	37	chrX	77301960	77301960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagcagagcctctataaacTcactactgtctgataaacgc	14	10	6	11	1	3	2	1	1	2	1	3	2	3	2	1	0	5	1	1	0	7	5			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:77301960T>C	ENST00000341514.6	+	23	4551	c.4396T>C	c.(4396-4398)Tca>Cca	p.S1466P	ATP7A_ENST00000350425.4_Missense_Mutation_p.S469P|ATP7A_ENST00000343533.5_Missense_Mutation_p.S1388P	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	1466					ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTCTATAAACTCACTACTGTC	0.443													C	77301960	T	C	77301960	3	2	744	1	0	0	0	0	1	0	0	0	1195	1551	54	3	4482	3	ATP7A	23	77301960	Missense_Mutation	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08		77301960	77968600	43	56295											
ARMCX2	9823	broad.mit.edu	37	chrX	100911610	100911612	+	In_Frame_Del	DEL	GCA	GCA	-																															gtccgccattagcagaggctGcagcagctgctgcagcccca																										TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:100911610_100911612delGCA	ENST00000328766.5	-	5	1416_1418	c.963_965delTGC	c.(961-966)gctgca>gca	p.321_322AA>A	ARMCX2_ENST00000330154.2_In_Frame_Del_p.321_322AA>A|ARMCX2_ENST00000356824.4_In_Frame_Del_p.321_322AA>A	NM_014782.5	NP_055597.1	Q7L311	ARMX2_HUMAN	armadillo repeat containing, X-linked 2	321						integral to membrane	binding	p.G316fs*3(1)		NS(1)|breast(4)|endometrium(3)|kidney(1)|large_intestine(2)|lung(10)|ovary(6)|prostate(1)|skin(1)	29						AGCAGAGGCTGCAGCAGCTGCTG	0.586													-	100911612	GCA	-	100911610	7	5	744	1	0	1	0	1	0	0	0	0	965	1319	46	0	937	0	ARMCX2	23	100911610	In_Frame_Del	DEL	GCA	TCGA-TM-A7CF-01A-11D-A32B-08	23609650	100911610	54358950	44	56296											
RAP2C	57826	broad.mit.edu	37	chrX	131351120	131351120	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcaaactgctcagttccTgcggtgtccagaatttccag	9	10	11	11	1	1	1	1	0	0	1	4	2	4	1	3	2	3	3	3	2	2	2			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:131351120T>C	ENST00000342983.2	-	2	923	c.177A>G	c.(175-177)gcA>gcG	p.A59A	RAP2C_ENST00000370874.1_Silent_p.A59A|RAP2C_ENST00000460462.1_5'UTR	NM_001271187.1|NM_021183.4	NP_001258116.1|NP_067006.3	Q9Y3L5	RAP2C_HUMAN	RAP2C, member of RAS oncogene family	59					negative regulation of cell migration|positive regulation of protein autophosphorylation|Rap protein signal transduction|regulation of protein tyrosine kinase activity	recycling endosome membrane	GTP binding|GTPase activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|lung(1)|ovary(1)|upper_aerodigestive_tract(2)	8	Acute lymphoblastic leukemia(192;0.000127)					GCTCAGTTCCTGCGGTGTCCA	0.458													C	131351120	T	C	131351120	2	2	744	1	0	0	0	0	0	0	0	1	13130	1567	55	3		3	RAP2C	23	131351120	Silent	SNP	T	TCGA-TM-A7CF-01A-11D-A32B-08	30439510	131351120	23919440	45	56297											
FLNA	2316	broad.mit.edu	37	chrX	153585626	153585626	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagcagcttacctagcccGtgacctccgattgacactga	10	8	9	14	2	0	3	0	3	0	0	1	4	1	3	4	0	4	3	4	0	3	3			TCGA-TM-A7CF-01A-11D-A32B-08	TCGA-TM-A7CF-10A-01D-A329-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	979f7fd8-ab07-40a0-869a-d08fb8e598ff	c6066220-b6fd-47d0-8daf-6eceb9a01b57	g.chrX:153585626G>T	ENST00000369850.3	-	30	5198	c.4962C>A	c.(4960-4962)caC>caA	p.H1654Q	FLNA_ENST00000422373.1_Intron|FLNA_ENST00000344736.4_Intron|FLNA_ENST00000369856.3_Intron|FLNA_ENST00000360319.4_Intron	NM_001110556.1	NP_001104026.1	P21333	FLNA_HUMAN	filamin A, alpha	1654					actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TACCTAGCCCGTGACCTCCGA	0.637													T	153585626	G	T	153585626	3	4	744	1	0	0	0	0	1	0	0	0	5982	1136	40	4	3057	4	FLNA	23	153585626	Missense_Mutation	SNP	G	TCGA-TM-A7CF-01A-11D-A32B-08	22234506	153585626	1684934	46	56298											
ZC3H11A	9877	broad.mit.edu	37	chr1	203786224	203786225	+	Frame_Shift_Ins	INS	-	-	T																															aatcaaggagaagactgctaINStttttttttctattccacat																										TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:203786224_203786225insT	ENST00000545588.1	+	2	3853_3854	c.26_27insT	c.(25-30)tattttfs	p.YF9fs	ZC3H11A_ENST00000367210.1_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367212.3_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000332127.4_Frame_Shift_Ins_p.YF9fs|ZC3H11A_ENST00000367214.1_Frame_Shift_Ins_p.YF9fs	NM_001271675.1	NP_001258604.1	O75152	ZC11A_HUMAN	zinc finger CCCH-type containing 11A	9							nucleic acid binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	32	all_cancers(21;0.0904)|all_epithelial(62;0.234)		BRCA - Breast invasive adenocarcinoma(75;0.109)			GAAGACTGCTATTTTTTTTTCT	0.371													T	203786225	-	T	203786224	7	5	745	1	0	1	1	0	0	0	0	0	17661	449	16	0	28	0	ZC3H11A	1	203786224	Frame_Shift_Ins	INS	-	TCGA-TM-A84B-01A-11D-A36O-08		203786224	45464397	1	56299											
OBSCN	84033	broad.mit.edu	37	chr1	228564858	228564858	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaagacagcagtgctgcgCgaatacgaggccctcaaggg	12	4	14	11	3	1	1	1	0	0	1	1	4	1	1	1	2	4	2	1	2	4	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:228564858C>T	ENST00000570156.2	+	112	26090	c.26016C>T	c.(26014-26016)cgC>cgT	p.R8672R	OBSCN_ENST00000422127.1_Silent_p.R7715R|OBSCN_ENST00000366707.4_Silent_p.R5349R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	7715					apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				CAGTGCTGCGCGAATACGAGG	0.677													T	228564858	C	T	228564858	2	4	745	1	0	0	0	0	0	0	0	1	10888	755	27	1		1	OBSCN	1	228564858	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	24778634	228564858	20685763	2	56300											
TBCE	6905	broad.mit.edu	37	chr1	235543460	235543460	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctggtgttgtccctcccgtGgcaggtaagcaattattgtg	6	13	13	9	1	0	0	0	0	0	0	2	0	2	0	2	3	1	5	2	3	3	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr1:235543460G>C	ENST00000543662.1	+	2	202	c.96G>C	c.(94-96)gtG>gtC	p.V32V	TBCE_ENST00000366601.3_Silent_p.V32V|TBCE_ENST00000472011.1_3'UTR|TBCE_ENST00000406207.1_Silent_p.V32V			Q15813	TBCE_HUMAN	tubulin folding cofactor E	32	CAP-Gly.				'de novo' posttranslational protein folding|post-chaperonin tubulin folding pathway	cytoplasm|microtubule|nucleus|plasma membrane	chaperone binding			NS(1)|endometrium(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	14	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00192)|Prostate(94;0.0294)|all_epithelial(177;0.155)|Lung SC(1967;0.238)	OV - Ovarian serous cystadenocarcinoma(106;2.56e-05)			TCCCTCCCGTGGCAGGTAAGC	0.443													C	235543460	G	C	235543460	2	2	745	1	0	0	0	0	0	0	0	1	15734	1335	47	4		4	TBCE	1	235543460	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	6978602	235543460	13707161	3	56301											
PXDN	7837	broad.mit.edu	37	chr2	1653369	1653369	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtccgagcagttgttcacgCgccggtgggcggtacagccc	5	8	15	13	5	1	0	1	0	0	0	2	1	2	0	3	3	3	4	3	3	1	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:1653369C>T	ENST00000252804.4	-	17	2233	c.2183G>A	c.(2182-2184)cGc>cAc	p.R728H		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	728					extracellular matrix organization|hydrogen peroxide catabolic process|immune response	endoplasmic reticulum|extracellular space|proteinaceous extracellular matrix	extracellular matrix structural constituent|heme binding|interleukin-1 receptor antagonist activity|peroxidase activity	p.R728H(1)		breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		GTTGTTCACGCGCCGGTGGGC	0.602													T	1653369	C	T	1653369	3	4	745	1	0	0	0	0	1	0	0	0	12935	768	27	1	2284	1	PXDN	2	1653369	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		1653369	241546004	4	56302											
ETAA1	54465	broad.mit.edu	37	chr2	67631743	67631743	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgagatcaataataattcCgaacatggagccaaactaac	17	9	7	8	1	1	1	1	1	0	1	2	4	2	2	2	1	4	0	2	1	6	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:67631743C>T	ENST00000272342.5	+	5	2059	c.1929C>T	c.(1927-1929)tcC>tcT	p.S643S	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	643						cytoplasm|nucleus				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						ATAATAATTCCGAACATGGAG	0.358													T	67631743	C	T	67631743	2	4	745	1	0	0	0	0	0	0	0	1	5308	639	23	1		1	ETAA1	2	67631743	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	65978374	67631743	175567630	5	56303											
RGPD4	285190	broad.mit.edu	37	chr2	108455411	108455411	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaggaagtcctgcaatttaTaaactaaaggtaaacaaaca	19	8	6	8	0	0	0	0	0	0	0	1	1	1	1	2	2	4	2	2	2	10	5			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:108455411T>C	ENST00000408999.3	+	4	473	c.396T>C	c.(394-396)taT>taC	p.Y132Y	RGPD4_ENST00000354986.4_Silent_p.Y132Y	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	132					intracellular transport		binding			breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						CTGCAATTTATAAACTAAAGG	0.318													C	108455411	T	C	108455411	2	2	745	1	0	0	0	0	0	0	0	1	13376	1413	49	3		3	RGPD4	2	108455411	Silent	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08	40823668	108455411	134743962	6	56304											
SCN9A	6335	broad.mit.edu	37	chr2	167055493	167055493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacacatcctcttgtttccGttttagtgtggttgtgatgg	6	17	11	7	1	1	2	0	1	1	1	3	2	3	2	2	2	0	3	2	2	1	5			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:167055493G>A	ENST00000303354.6	-	27	5999	c.5659C>T	c.(5659-5661)Cgg>Tgg	p.R1887W	AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000375387.4_Missense_Mutation_p.R1887W|SCN9A_ENST00000409672.1_Missense_Mutation_p.R1875W|SCN9A_ENST00000409435.1_Missense_Mutation_p.R1886W			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit	1886						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.R1875W(1)		NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lamotrigine(DB00555)|Lidocaine(DB00281)	TCTTGTTTCCGTTTTAGTGTG	0.403													A	167055493	G	A	167055493	3	1	745	1	0	0	0	0	1	0	0	0	14018	1144	40	1	314	1	SCN9A	2	167055493	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	58600082	167055493	76143880	7	56305											
TTN	7273	broad.mit.edu	37	chr2	179485844	179485844	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cttaccaatgactgtcaagtGagctgctgctctggcggccc	7	10	11	13	1	2	2	1	2	1	0	2	2	2	2	2	2	4	3	2	2	3	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:179485844G>A	ENST00000589042.1	-	246	45825	c.45601C>T	c.(45601-45603)Cac>Tac	p.H15201Y	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H6328Y|TTN_ENST00000591111.1_Missense_Mutation_p.H13560Y|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H12633Y|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H6261Y|TTN_ENST00000460472.2_Missense_Mutation_p.H6136Y|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13560	Fibronectin type-III 10.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACTGTCAAGTGAGCTGCTGCT	0.383													A	179485844	G	A	179485844	3	1	745	1	0	0	0	0	1	0	0	0	16837	1290	45	2	62560	2	TTN	2	179485844	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	12430351	179485844	63713529	8	56306											
STAT1	6772	broad.mit.edu	37	chr2	191865866	191865866	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgtttgtctaacatcactgtGctctgaatattccccgactg	8	15	7	11	1	3	1	1	1	2	0	4	2	4	1	2	0	2	2	2	0	3	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:191865866G>A	ENST00000361099.3	-	6	783	c.396C>T	c.(394-396)agC>agT	p.S132S	STAT1_ENST00000540176.1_Silent_p.S132S|STAT1_ENST00000409465.1_Silent_p.S132S|STAT1_ENST00000392323.2_Silent_p.S134S|STAT1_ENST00000392322.3_Silent_p.S132S	NM_007315.3	NP_009330.1	P42224	STAT1_HUMAN	signal transducer and activator of transcription 1, 91kDa	132					activation of caspase activity|I-kappaB kinase/NF-kappaB cascade|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway|tyrosine phosphorylation of STAT protein	cytosol|nucleolus|nucleoplasm	calcium ion binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding|RNA polymerase II core promoter sequence-specific DNA binding transcription factor activity|signal transducer activity			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			OV - Ovarian serous cystadenocarcinoma(117;0.00434)|Epithelial(96;0.0555)|all cancers(119;0.141)		Fludarabine(DB01073)	ACATCACTGTGCTCTGAATAT	0.413													A	191865866	G	A	191865866	2	1	745	1	0	0	0	0	0	0	0	1	15360	1310	46	2		2	STAT1	2	191865866	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	12380022	191865866	51333507	9	56307											
FAM126B	285172	broad.mit.edu	37	chr2	201846441	201846441	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctttatccttggctgaaCgcccagttgctactttcctt	5	18	6	12	1	1	1	0	1	1	0	3	1	3	1	3	1	3	3	3	1	3	8	rs138872845		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:201846441C>T	ENST00000418596.3	-	12	1332	c.1145G>A	c.(1144-1146)cGt>cAt	p.R382H	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						CTTGGCTGAACGCCCAGTTGC	0.493													T	201846441	C	T	201846441	3	4	745	1	0	0	0	0	1	0	0	0	5475	536	19	1	451	1	FAM126B	2	201846441	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	9980575	201846441	41352932	10	56308											
SNED1	25992	broad.mit.edu	37	chr2	242002232	242002232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgatgagtgccggtctcagcCgtgcctgcatgggggctctt	4	10	15	12	3	2	1	1	1	2	0	3	2	2	1	3	3	4	2	3	3	0	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr2:242002232C>T	ENST00000310397.8	+	17	2282	c.2282C>T	c.(2281-2283)cCg>cTg	p.P761L	SNED1_ENST00000342631.6_Missense_Mutation_p.P761L|SNED1_ENST00000401884.1_Missense_Mutation_p.P761L|SNED1_ENST00000405547.3_Missense_Mutation_p.P761L|AC005237.4_ENST00000458377.1_RNA	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	761	EGF-like 11; calcium-binding (Potential).				cell-matrix adhesion	extracellular region	calcium ion binding			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		CGGTCTCAGCCGTGCCTGCAT	0.557													T	242002232	C	T	242002232	3	4	745	1	0	0	0	0	1	0	0	0	14939	652	23	1	2348	1	SNED1	2	242002232	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	40155791	242002232	1197141	11	56309											
UGT2A1	10941	broad.mit.edu	37	chr4	70465099	70465099	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttccccatagtctcacataaCgtagtgggtcttcctggaga	9	12	9	11	1	2	1	1	0	2	1	5	2	4	1	3	2	1	1	3	2	3	5	rs141938191		TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:70465099C>T	ENST00000503640.1	-	2	784	c.729G>A	c.(727-729)acG>acA	p.T243T	UGT2A1_ENST00000514019.1_Silent_p.T453T|UGT2A1_ENST00000286604.4_Silent_p.T287T|UGT2A2_ENST00000457664.2_Silent_p.T252T|UGT2A1_ENST00000502343.1_5'UTR|UGT2A1_ENST00000512704.1_Silent_p.T243T	NM_006798.3	NP_006789.2	Q9Y4X1	UD2A1_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A1, complex locus	243					detection of chemical stimulus|sensory perception of smell	integral to membrane	glucuronosyltransferase activity			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						TCTCACATAACGTAGTGGGTC	0.368													T	70465099	C	T	70465099	2	4	745	1	0	0	0	0	0	0	0	1	17055	523	19	1		1	UGT2A1	4	70465099	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		70465099	120689177	12	56310											
SLC25A4	291	broad.mit.edu	37	chr4	186066341	186066341	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctctaccagggtttcaacGtctctgtccaaggcatcatt	8	12	9	12	1	4	0	2	0	2	0	6	0	5	0	2	3	2	3	2	3	3	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr4:186066341G>A	ENST00000281456.6	+	2	667	c.535G>A	c.(535-537)Gtc>Atc	p.V179I		NM_001151.3	NP_001142.2	P12235	ADT1_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4						energy reserve metabolic process|interspecies interaction between organisms|mitochondrial genome maintenance|negative regulation of necrotic cell death|regulation of insulin secretion|viral reproduction	integral to plasma membrane|mitochondrial inner membrane	adenine transmembrane transporter activity|protein binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)	10		all_lung(41;1.19e-13)|Lung NSC(41;3.16e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00872)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;4.48e-44)|Epithelial(43;2.1e-41)|all cancers(43;1.37e-36)|Colorectal(24;4.79e-05)|BRCA - Breast invasive adenocarcinoma(30;7.72e-05)|GBM - Glioblastoma multiforme(59;0.000274)|COAD - Colon adenocarcinoma(29;0.000362)|STAD - Stomach adenocarcinoma(60;0.000756)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.155)	Adenosine triphosphate(DB00171)|Clodronate(DB00720)	GGGTTTCAACGTCTCTGTCCA	0.562													A	186066341	G	A	186066341	3	1	745	1	0	0	0	0	1	0	0	0	14598	1145	40	1	541	1	SLC25A4	4	186066341	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	115601242	186066341	5087935	13	56311											
PCDHA3	56145	broad.mit.edu	37	chr5	140182557	140182557	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggtgcgggccacgtggtagCgaaggtgcgcgcagtggatg	6	6	21	8	5	0	0	0	0	0	0	0	2	0	1	1	5	3	2	1	5	2	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr5:140182557C>T	ENST00000522353.2	+	1	1775	c.1775C>T	c.(1774-1776)gCg>gTg	p.A592V	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000520672.2_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.A592V	NM_018906.2	NP_061729.1														NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACGTGGTAGCGAAGGTGCGC	0.682													T	140182557	C	T	140182557	3	4	745	1	0	0	0	0	1	0	0	0	11601	768	27	1	1777	1	PCDHA3	5	140182557	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		140182557	40732703	14	56312											
UNCX	340260	broad.mit.edu	37	chr7	1275471	1275471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatccggctgctctaggtcTggttccaaaaccgccgggcc	6	9	11	15	3	2	0	0	0	2	0	4	0	4	0	5	4	2	3	5	4	4	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:1275471T>C	ENST00000316333.8	+	3	565	c.454T>C	c.(454-456)Tgg>Cgg	p.W152R		NM_001080461.1	NP_001073930.1	A6NJT0	UNC4_HUMAN	UNC homeobox	152					cell differentiation	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			lung(2)|skin(1)|upper_aerodigestive_tract(1)	4		Ovarian(82;0.11)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;1.74e-15)		GCTCTAGGTCTGGTTCCAAAA	0.697													C	1275471	T	C	1275471	3	2	745	1	0	0	0	0	1	0	0	0	17100	1580	55	3	464	3	UNCX	7	1275471	Missense_Mutation	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08		1275471	157863192	15	56313											
AHR	196	broad.mit.edu	37	chr7	17379426	17379426	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aattggaactctaaccaattCgtgcctttcaattgtccaca	12	13	5	11	1	2	0	1	0	1	0	4	1	3	1	3	1	3	0	3	1	5	5	rs139422560	byFrequency	TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:17379426C>T	ENST00000242057.4	+	10	2620	c.1977C>T	c.(1975-1977)ttC>ttT	p.F659F		NM_001621.4	NP_001612.1	P35869	AHR_HUMAN	aryl hydrocarbon receptor	659					apoptosis|blood vessel development|cell cycle|regulation of B cell proliferation|response to stress|transcription from RNA polymerase II promoter|xenobiotic metabolic process	cytosolic aryl hydrocarbon receptor complex|transcription factor complex	Hsp90 protein binding|ligand-dependent nuclear receptor activity|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|urinary_tract(3)	33	Lung NSC(10;0.0392)|all_lung(11;0.0754)					CTAACCAATTCGTGCCTTTCA	0.408													T	17379426	C	T	17379426	2	4	745	1	0	0	0	0	0	0	0	1	416	883	31	1		1	AHR	7	17379426	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	16103955	17379426	141759237	16	56314											
HECW1	23072	broad.mit.edu	37	chr7	43477672	43477672	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaagtttgccaagagccGccccatcatcaagcgcttct	10	8	9	14	2	3	1	2	0	1	1	3	2	3	2	4	1	3	2	4	1	3	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:43477672G>A	ENST00000395891.2	+	9	1477	c.872G>A	c.(871-873)cGc>cAc	p.R291H	HECW1_ENST00000453890.1_Missense_Mutation_p.R291H|HECW1_ENST00000471043.1_3'UTR	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1		C2.				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						GCCAAGAGCCGCCCCATCATC	0.473													A	43477672	G	A	43477672	3	1	745	1	0	0	0	0	1	0	0	0	7097	1087	38	1	898	1	HECW1	7	43477672	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	26098246	43477672	115660991	17	56315											
SRRM3	222183	broad.mit.edu	37	chr7	75894112	75894112	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccaagtgcaaaagaaaagAgaagaacaaagagaagaaga	24	2	10	5	0	0	6	0	0	0	6	1	8	1	6	1	0	2	1	1	0	10	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:75894112A>T	ENST00000388802.4	+	9	913	c.704A>T	c.(703-705)gAg>gTg	p.E235V	SRRM3_ENST00000326382.8_Missense_Mutation_p.E235V					serine/arginine repetitive matrix 3											NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|pancreas(1)	8						AAAAGAAAAGAGAAGAACAAA	0.567													T	75894112	A	T	75894112	3	4	745	1	0	0	0	0	1	0	0	0	15266	304	11	5	734	5	SRRM3	7	75894112	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08	32416440	75894112	83244551	18	56316											
ASB10	136371	broad.mit.edu	37	chr7	150883516	150883516	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggcagagatgcagggggcGtttcccatcctggtcagcga	7	7	15	12	3	1	1	1	0	0	1	3	3	3	1	3	4	2	3	3	4	0	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr7:150883516G>A	ENST00000422024.1	-	2	807	c.682C>T	c.(682-684)Cgc>Tgc	p.R228C	ASB10_ENST00000420175.2_Missense_Mutation_p.R183C|ASB10_ENST00000434669.1_Missense_Mutation_p.R228C|ASB10_ENST00000377867.3_Missense_Mutation_p.R168C|ASB10_ENST00000275838.1_Missense_Mutation_p.R183C	NM_001142459.1	NP_001135931.2	Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	183					intracellular signal transduction					NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGGGGCGTTTCCCATCC	0.642													A	150883516	G	A	150883516	3	1	745	1	0	0	0	0	1	0	0	0	1019	1145	40	1	872	1	ASB10	7	150883516	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	74989404	150883516	8255147	19	56317											
GPR124	25960	broad.mit.edu	37	chr8	37693223	37693223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagccacagcaacacctcccGccctggagctgctgggcctg	7	5	11	18	1	0	0	0	0	0	0	1	1	1	1	5	2	5	3	5	2	1	0	rs142661492	by1000genomes	TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:37693223G>A	ENST00000412232.2	+	13	1998	c.1985G>A	c.(1984-1986)cGc>cAc	p.R662H	GPR124_ENST00000315215.7_Intron	NM_032777.9	NP_116166.9	Q96PE1	GP124_HUMAN	G protein-coupled receptor 124	662					central nervous system development|endothelial cell migration|neuropeptide signaling pathway|regulation of angiogenesis|regulation of chemotaxis|sprouting angiogenesis	integral to membrane|plasma membrane	G-protein coupled receptor activity			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(16)|ovary(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	37			BRCA - Breast invasive adenocarcinoma(5;2.75e-24)|LUSC - Lung squamous cell carcinoma(8;3.5e-10)			AACACCTCCCGCCCTGGAGCT	0.682													A	37693223	G	A	37693223	3	1	745	1	0	0	0	0	1	0	0	0	6692	1087	38	1	2014	1	GPR124	8	37693223	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		37693223	108670799	20	56318											
PCMTD1	115294	broad.mit.edu	37	chr8	52733212	52733212	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcatctcatcatttatgAaatttctaagtgtgcgtcga	10	15	7	9	2	3	1	2	1	2	0	5	2	3	1	1	0	2	1	1	0	3	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr8:52733212A>G	ENST00000360540.5	-	7	1179	c.773T>C	c.(772-774)tTc>tCc	p.F258S	PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000544451.1_Missense_Mutation_p.F182S|PCMTD1_ENST00000522514.1_Missense_Mutation_p.F258S	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	258						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				ATCATTTATGAAATTTCTAAG	0.393													G	52733212	A	G	52733212	3	3	745	1	0	0	0	0	1	0	0	0	11662	246	9	3	304	3	PCMTD1	8	52733212	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08	15039989	52733212	93630810	21	56319											
MPDZ	8777	broad.mit.edu	37	chr9	13108990	13108990	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctccatgagggctgccatatCctccaactatactgaagcct	10	10	7	14	0	0	2	0	2	0	0	3	2	3	2	5	1	4	1	5	1	5	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:13108990C>A	ENST00000319217.7	-	46	6258	c.6011G>T	c.(6010-6012)gGa>gTa	p.G2004V	MPDZ_ENST00000538841.1_Missense_Mutation_p.G863V|MPDZ_ENST00000541093.1_Missense_Mutation_p.G238V|MPDZ_ENST00000541718.1_Missense_Mutation_p.G1975V|MPDZ_ENST00000536827.1_Missense_Mutation_p.G1942V|MPDZ_ENST00000546205.1_Missense_Mutation_p.G2018V|MPDZ_ENST00000447879.1_Missense_Mutation_p.G1971V|MPDZ_ENST00000381015.4_Missense_Mutation_p.G2004V|MPDZ_ENST00000381022.2_Missense_Mutation_p.G1975V	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	2004	PDZ 13.				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		GCTGCCATATCCTCCAACTAT	0.413													A	13108990	C	A	13108990	3	1	745	1	0	0	0	0	1	0	0	0	9798	855	30	4	209	4	MPDZ	9	13108990	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		13108990	128104441	22	56320											
NDOR1	27158	broad.mit.edu	37	chr9	140110110	140110110	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccacctccttcctgcaataGgacctgtccgggtgcccctc	5	9	9	18	1	0	0	0	0	0	0	4	1	3	1	8	2	2	1	8	2	2	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr9:140110110G>A	ENST00000371521.4	+	11	1371		c.e11-1		NDOR1_ENST00000458322.2_Splice_Site|NDOR1_ENST00000427047.2_Splice_Site|NDOR1_ENST00000344894.5_Splice_Site	NM_001144026.1	NP_001137498.1	Q9UHB4	NDOR1_HUMAN	NADPH dependent diflavin oxidoreductase 1						cell death	cytosol|intermediate filament cytoskeleton|nucleus|perinuclear region of cytoplasm	flavin adenine dinucleotide binding|FMN binding|iron ion binding|NADP binding|oxidoreductase activity|protein binding			breast(1)|endometrium(5)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.00057)		TCCTGCAATAGGACCTGTCCG	0.607													A	140110110	G	A	140110110	5	1	745	1	0	0	0	0	0	0	1	0	10325	1014	35	2	1330	2	NDOR1	9	140110110	Splice_Site	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	127001120	140110110	1103321	23	56321											
BMS1	9790	broad.mit.edu	37	chr10	43292066	43292066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagatgacgggttggaaaaCggctctagtgatgaggaagc	13	7	16	5	2	1	4	0	3	1	1	1	7	1	6	0	4	2	2	0	4	5	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:43292066C>T	ENST00000374518.5	+	10	1437	c.1374C>T	c.(1372-1374)aaC>aaT	p.N458N		NM_014753.3	NP_055568.3	Q14692	BMS1_HUMAN	BMS1 ribosome biogenesis factor						ribosome assembly	nucleolus	ATP binding|GTP binding|GTPase activity			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(23)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						GGTTGGAAAACGGCTCTAGTG	0.443													T	43292066	C	T	43292066	2	4	745	1	0	0	0	0	0	0	0	1	1478	535	19	1		1	BMS1	10	43292066	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		43292066	92242681	24	56322											
HKDC1	80201	broad.mit.edu	37	chr10	70986987	70986987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaggttcctgtatcacatgCggctctccgatgacaccctt	8	11	8	14	2	2	1	1	1	1	0	4	2	3	1	3	2	1	3	3	2	1	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:70986987C>T	ENST00000354624.5	+	2	221	c.88C>T	c.(88-90)Cgg>Tgg	p.R30W	HKDC1_ENST00000395086.2_Missense_Mutation_p.R30W|RP11-227H15.4_ENST00000450995.1_RNA	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	30					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GTATCACATGCGGCTCTCCGA	0.612													T	70986987	C	T	70986987	3	4	745	1	0	0	0	0	1	0	0	0	7248	759	27	1	94	1	HKDC1	10	70986987	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	27694921	70986987	64547760	25	56323											
PTEN	5728	broad.mit.edu	37	chr10	89712016	89712019	+	Splice_Site	DEL	AGTA	AGTA	-																															tgttcagtggcggaacttgcAgtaagtgcttgaaattctca																										TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr10:89712016_89712019delAGTA	ENST00000371953.3	+	6	1991	c.634delAGTA	c.(634-636)agt>gt	p.S212fs	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	212	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(11)|p.R55fs*1(5)|p.G165fs*9(3)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CGGAACTTGCAGTAAGTGCTTGAA	0.338		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			-	89712019	AGTA	-	89712016	8	5	745	1	0	1	0	1	0	0	1	0	12823	202	7	0	656	0	PTEN	10	89712016	Splice_Site	DEL	AGTA	TCGA-TM-A84B-01A-11D-A36O-08	18725029	89712016	45822731	26	56324											
RAPSN	5913	broad.mit.edu	37	chr11	47469622	47469622	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcgcacagcttctcgttgctGcgtgccaggttcaggtagct	5	12	12	12	3	2	0	1	0	1	0	4	0	2	0	1	2	5	7	1	2	1	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr11:47469622G>A	ENST00000298854.2	-	2	486	c.273C>T	c.(271-273)cgC>cgT	p.R91R	RAPSN_ENST00000352508.3_Silent_p.R91R|RAPSN_ENST00000524487.1_Silent_p.R91R|RAPSN_ENST00000529341.1_Silent_p.R91R	NM_005055.4	NP_005046.2	Q13702	RAPSN_HUMAN	receptor-associated protein of the synapse	91					synaptic transmission, cholinergic	cell junction|cytoskeleton|postsynaptic membrane	acetylcholine receptor binding|zinc ion binding			endometrium(1)|large_intestine(3)|lung(6)|ovary(2)	12						TCTCGTTGCTGCGTGCCAGGT	0.632													A	47469622	G	A	47469622	2	1	745	1	0	0	0	0	0	0	0	1	13139	1306	46	2		2	RAPSN	11	47469622	Silent	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		47469622	87536894	27	56325											
PPFIA2	8499	broad.mit.edu	37	chr12	81746923	81746923	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctttgttgatggcatccaAttgttcctgaagcatcatgg	8	16	9	8	0	2	2	1	2	1	0	4	2	4	2	2	2	1	4	2	2	2	5			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr12:81746923A>G	ENST00000550584.2	-	16	2264	c.1969T>C	c.(1969-1971)Ttg>Ctg	p.L657L	PPFIA2_ENST00000443686.3_Silent_p.L558L|PPFIA2_ENST00000552948.1_Silent_p.L657L|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000541017.1_5'UTR|PPFIA2_ENST00000548586.1_Silent_p.L657L|PPFIA2_ENST00000407050.4_Silent_p.L583L|PPFIA2_ENST00000541570.2_Silent_p.L224L|PPFIA2_ENST00000550359.2_Silent_p.L504L|PPFIA2_ENST00000549325.1_Silent_p.L639L|PPFIA2_ENST00000333447.7_Silent_p.L639L|PPFIA2_ENST00000549396.1_Silent_p.L657L	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	583										NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						ATGGCATCCAATTGTTCCTGA	0.368													G	81746923	A	G	81746923	2	3	745	1	0	0	0	0	0	0	0	1	12387	98	4	3		3	PPFIA2	12	81746923	Silent	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		81746923	52104972	28	56326											
C14orf39	317761	broad.mit.edu	37	chr14	60908817	60908817	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgctctgatgacagaggAtttagatttcttgcagaata	11	15	9	6	0	3	5	0	2	3	3	3	6	3	6	0	1	2	2	0	1	3	6			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr14:60908817A>G	ENST00000321731.3	-	17	1695	c.1536T>C	c.(1534-1536)aaT>aaC	p.N512N		NM_174978.2	NP_777638	Q08AQ4	Q08AQ4_HUMAN	chromosome 14 open reading frame 39	512										breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		ATGACAGAGGATTTAGATTTC	0.274													G	60908817	A	G	60908817	2	3	745	1	0	0	0	0	0	0	0	1	1785	330	12	3		3	C14orf39	14	60908817	Silent	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		60908817	46440723	29	56327											
SLC27A2	11001	broad.mit.edu	37	chr15	50497454	50497454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtgctactcttgccttgcGgactaaattttcagccagcc	8	12	9	12	1	2	0	1	0	1	0	2	1	2	1	3	2	6	1	3	2	3	6			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr15:50497454G>A	ENST00000267842.5	+	4	1098	c.866G>A	c.(865-867)cGg>cAg	p.R289Q	SLC27A2_ENST00000380902.4_Missense_Mutation_p.R236Q|SLC27A2_ENST00000544960.1_Missense_Mutation_p.R54Q	NM_003645.3	NP_003636.2	O14975	S27A2_HUMAN	solute carrier family 27 (fatty acid transporter), member 2	289					bile acid biosynthetic process|fatty acid alpha-oxidation	endoplasmic reticulum membrane|integral to membrane|peroxisomal matrix|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity|phytanate-CoA ligase activity|pristanate-CoA ligase activity			NS(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_lung(180;0.00177)		all cancers(107;1.16e-06)|GBM - Glioblastoma multiforme(94;0.000113)		CTTGCCTTGCGGACTAAATTT	0.398													A	50497454	G	A	50497454	3	1	745	1	0	0	0	0	1	0	0	0	14620	1116	39	1	880	1	SLC27A2	15	50497454	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		50497454	52033938	30	56328											
CD19	930	broad.mit.edu	37	chr16	28943382	28943382	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccccatggaagtcaggcccGaggaacctctagtggtgaag	10	6	13	12	1	2	1	1	1	1	0	2	4	2	3	4	4	1	0	4	4	4	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:28943382G>A	ENST00000538922.1	+	1	123	c.61G>A	c.(61-63)Gag>Aag	p.E21K	CD19_ENST00000324662.3_Missense_Mutation_p.E21K|CD19_ENST00000567541.1_Missense_Mutation_p.E21K	NM_001178098.1|NM_001770.5	NP_001171569.1|NP_001761.3	P15391	CD19_HUMAN	CD19 molecule	21	Ig-like C2-type 1.				cellular defense response	external side of plasma membrane|integral to plasma membrane	protein binding|receptor signaling protein activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|ovary(2)|skin(4)|urinary_tract(1)	29						AGTCAGGCCCGAGGAACCTCT	0.597													A	28943382	G	A	28943382	3	1	745	1	0	0	0	0	1	0	0	0	3003	1059	37	1	63	1	CD19	16	28943382	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		28943382	61411371	31	56329											
EDC4	23644	broad.mit.edu	37	chr16	67913854	67913854	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgagcagcacctcagcTgtggacccctccttgaccag	8	7	10	16	0	1	2	1	2	0	0	2	3	2	3	6	1	3	3	6	1	0	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:67913854T>C	ENST00000358933.5	+	16	2162	c.1923T>C	c.(1921-1923)gcT>gcC	p.A641A		NM_014329.4	NP_055144.3	Q6P2E9	EDC4_HUMAN	enhancer of mRNA decapping 4	641	Ser-rich.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(4)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0042)|Epithelial(162;0.0185)|all cancers(182;0.121)		GCACCTCAGCTGTGGACCCCT	0.612													C	67913854	T	C	67913854	2	2	745	1	0	0	0	0	0	0	0	1	4947	1567	55	3		3	EDC4	16	67913854	Silent	SNP	T	TCGA-TM-A84B-01A-11D-A36O-08	38970472	67913854	22440899	32	56330											
WWP2	11060	broad.mit.edu	37	chr16	69971126	69971126	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtggctgcgctactttgaCgagaaagagctggaggtgag	10	8	17	6	2	0	4	0	2	0	2	0	7	0	5	0	3	3	3	0	3	2	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr16:69971126C>T	ENST00000359154.2	+	20	2324	c.2223C>T	c.(2221-2223)gaC>gaT	p.D741D	WWP2_ENST00000356003.2_Silent_p.D741D|WWP2_ENST00000544162.1_3'UTR|WWP2_ENST00000448661.1_Silent_p.D741D|WWP2_ENST00000568684.1_Silent_p.D302D|WWP2_ENST00000542271.1_Silent_p.D625D	NM_001270454.1|NM_007014.4	NP_001257383.1|NP_008945.2	O00308	WWP2_HUMAN	WW domain containing E3 ubiquitin protein ligase 2	741	HECT.				entry of virus into host cell|negative regulation of protein transport|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transporter activity|proteasomal ubiquitin-dependent protein catabolic process|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus|ubiquitin ligase complex	RNA polymerase II transcription factor binding|ubiquitin-protein ligase activity			breast(4)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						GCTACTTTGACGAGAAAGAGC	0.602													T	69971126	C	T	69971126	2	4	745	1	0	0	0	0	0	0	0	1	17518	535	19	1		1	WWP2	16	69971126	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	2057272	69971126	20383627	33	56331											
CDRT4	284040	broad.mit.edu	37	chr17	15341350	15341350	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgctggaaggtttattctGccttgatgcccagggtcttt	6	14	12	9	1	2	1	0	1	2	0	2	3	2	2	2	3	2	2	2	3	2	5			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:15341350G>A	ENST00000312177.6	-	4	476	c.196C>T	c.(196-198)Cag>Tag	p.Q66*	TVP23C-CDRT4_ENST00000522212.2_3'UTR|TVP23C_ENST00000519970.1_3'UTR|CDRT4_ENST00000519354.1_5'UTR	NM_001204477.1	NP_001191406.1	Q8N9R6	CDRT4_HUMAN	CMT1A duplicated region transcript 4	66										endometrium(3)|skin(1)	4				UCEC - Uterine corpus endometrioid carcinoma (92;0.0874)		GGTTTATTCTGCCTTGATGCC	0.483													A	15341350	G	A	15341350	4	1	745	1	0	0	0	0	0	1	0	0	3206	1328	46	2	263	2	CDRT4	17	15341350	Nonsense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		15341350	65853860	34	56332											
HN1	51155	broad.mit.edu	37	chr17	73144759	73144759	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggatccaccacctggaggccGcaaaactctgcaaataatgg	13	6	10	12	1	1	0	0	0	1	0	2	2	2	2	4	4	2	2	4	4	4	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr17:73144759G>A	ENST00000409753.3	-	2	349	c.64C>T	c.(64-66)Cgg>Tgg	p.R22W	HN1_ENST00000465454.1_5'UTR|HN1_ENST00000392566.2_5'UTR|HN1_ENST00000481647.1_5'UTR|HN1_ENST00000476258.1_5'UTR|HN1_ENST00000581874.1_Missense_Mutation_p.R22W|HN1_ENST00000470924.1_5'UTR|HN1_ENST00000356033.4_Missense_Mutation_p.R22W|HN1_ENST00000405458.3_5'UTR|HN1_ENST00000482348.1_5'UTR	NM_016185.2	NP_057269.1	Q9UK76	HN1_HUMAN	hematological and neurological expressed 1	22						nucleus			HN1/USH1G(2)	breast(1)	1	all_lung(278;0.14)|Lung NSC(278;0.168)					CCTGGAGGCCGCAAAACTCTG	0.393													A	73144759	G	A	73144759	3	1	745	1	0	0	0	0	1	0	0	0	7304	1086	38	1	516	1	HN1	17	73144759	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	57803409	73144759	8050451	35	56333											
SERPINB13	5275	broad.mit.edu	37	chr18	61264400	61264400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtcaggctccgggttgtacGcccagaagttcctgcacagt	7	9	12	13	3	1	1	1	0	0	1	3	1	3	1	3	2	2	5	3	2	2	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr18:61264400G>A	ENST00000344731.5	+	8	1081	c.979G>A	c.(979-981)Gcc>Acc	p.A327T	SERPINB13_ENST00000269489.5_Missense_Mutation_p.A275T	NM_012397.3	NP_036529.1	Q9UIV8	SPB13_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 13	327					regulation of proteolysis|response to UV	cytoplasm|extracellular region	serine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						CGGGTTGTACGCCCAGAAGTT	0.592													A	61264400	G	A	61264400	3	1	745	1	0	0	0	0	1	0	0	0	14193	1087	38	1	1005	1	SERPINB13	18	61264400	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08		61264400	16812848	36	56334											
TNFSF14	8740	broad.mit.edu	37	chr19	6664992	6664992	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcacgcagtcgaaccaggCgttcatccagcacacggacg	11	5	10	15	5	2	0	2	0	0	0	4	2	3	1	2	2	2	3	2	2	1	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:6664992C>T	ENST00000326176.9	-	5	941	c.560G>A	c.(559-561)cGc>cAc	p.R187H	TNFSF14_ENST00000245912.3_Missense_Mutation_p.R187H|TNFSF14_ENST00000599359.1_Missense_Mutation_p.R223H	NM_003807.3|NM_172014.2	NP_003798.2|NP_742011.2	O43557	TNF14_HUMAN	tumor necrosis factor (ligand) superfamily, member 14	223					cellular response to mechanical stimulus|immune response|induction of apoptosis|release of cytoplasmic sequestered NF-kappaB|T cell homeostasis|T cell proliferation	cytoplasm|extracellular space|integral to membrane|plasma membrane	caspase inhibitor activity|cytokine activity|tumor necrosis factor receptor binding			breast(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	18						TCGAACCAGGCGTTCATCCAG	0.607													T	6664992	C	T	6664992	3	4	745	1	0	0	0	0	1	0	0	0	16407	768	27	1	58	1	TNFSF14	19	6664992	Missense_Mutation	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		6664992	52463991	37	56335											
ATG4D	84971	broad.mit.edu	37	chr19	10659651	10659651	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtggaagtctgtggtcatcCtggtgcccgtgcgactgggt	5	11	16	9	2	2	0	1	0	1	0	3	2	3	1	2	4	2	0	2	4	1	0			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:10659651C>T	ENST00000309469.4	+	6	1080	c.907C>T	c.(907-909)Ctg>Ttg	p.L303L	ATG4D_ENST00000540862.1_Intron	NM_032885.4	NP_116274.3	Q86TL0	ATG4D_HUMAN	autophagy related 4D, cysteine peptidase	303					autophagy|protein transport	cytoplasm	cysteine-type endopeptidase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	19			Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)			TGTGGTCATCCTGGTGCCCGT	0.632													T	10659651	C	T	10659651	2	4	745	1	0	0	0	0	0	0	0	1	1104	680	24	2		2	ATG4D	19	10659651	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	3994659	10659651	48469332	38	56336											
LSM14A	26065	broad.mit.edu	37	chr19	34685400	34685400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cagttcgatcctttggtacaGaagacagaccgacagatcgt	12	9	10	10	3	0	4	0	0	0	4	3	6	1	4	2	1	1	2	2	1	2	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685400G>A	ENST00000544216.3	+	2	216	c.139G>A	c.(139-141)Gaa>Aaa	p.E47K	LSM14A_ENST00000433627.5_Missense_Mutation_p.E47K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E47K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	47					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					CTTTGGTACAGAAGACAGACC	0.408													A	34685400	G	A	34685400	3	1	745	1	0	0	0	0	1	0	0	0	9124	943	33	2	145	2	LSM14A	19	34685400	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	24025749	34685400	24443583	39	56337			1	90		3	3	97	G		1.051012e-08
LSM14A	26065	broad.mit.edu	37	chr19	34685448	34685448	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cacctcgagatgaagtctttGaatacattatattccgtggg	11	13	9	8	2	1	3	0	2	1	1	3	4	2	3	2	1	1	0	2	1	5	5			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685448G>A	ENST00000544216.3	+	2	264	c.187G>A	c.(187-189)Gaa>Aaa	p.E63K	LSM14A_ENST00000433627.5_Missense_Mutation_p.E63K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E63K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	63					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TGAAGTCTTTGAATACATTAT	0.433													A	34685448	G	A	34685448	3	1	745	1	0	0	0	0	1	0	0	0	9124	1291	45	2	193	2	LSM14A	19	34685448	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	48	34685448	24443535	40	56338			1	90		3	3	97	G		1.051012e-08
LSM14A	26065	broad.mit.edu	37	chr19	34685496	34685496	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaagaccttactgtttgtGagccaccaaaaccacagtgt	13	11	7	10	0	0	2	0	1	0	1	0	2	0	2	4	0	3	1	4	0	5	3			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:34685496G>A	ENST00000544216.3	+	2	312	c.235G>A	c.(235-237)Gag>Aag	p.E79K	LSM14A_ENST00000433627.5_Missense_Mutation_p.E79K|LSM14A_ENST00000540746.2_Missense_Mutation_p.E79K	NM_015578.2	NP_056393.2	Q8ND56	LS14A_HUMAN	LSM14A, SCD6 homolog A (S. cerevisiae)	79					cytoplasmic mRNA processing body assembly|multicellular organismal development|regulation of translation	cytoplasmic mRNA processing body|intracellular membrane-bounded organelle|stress granule				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(7)|skin(1)	22	Esophageal squamous(110;0.162)					TACTGTTTGTGAGCCACCAAA	0.438													A	34685496	G	A	34685496	3	1	745	1	0	0	0	0	1	0	0	0	9124	1291	45	2	241	2	LSM14A	19	34685496	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	48	34685496	24443487	41	56339			1	90		3	3	97	G		1.051012e-08
CEACAM20	125931	broad.mit.edu	37	chr19	45017234	45017234	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctgtatccctgtgttaccgtCtggcatttctgatgtagaga	7	15	10	9	1	2	2	0	1	2	1	3	3	3	2	2	1	1	4	2	1	3	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:45017234C>G	ENST00000454753.1	-	0	1702							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral to membrane				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				GTGTTACCGTCTGGCATTTCT	0.582											OREG0025538	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G	45017234	C	G	45017234	1	3	745	0	1	0	0	0	0	0	0	0	3221	913	32	4		4	CEACAM20	19	45017234	RNA	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	10331738	45017234	14111749	42	56340											
PRR12	57479	broad.mit.edu	37	chr19	50098262	50098263	+	Frame_Shift_Ins	INS	-	-	C																															tggtctcggtccagcccagaINScccccccttaccgccctggc																										TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:50098262_50098263insC	ENST00000418929.2	+	4	682_683	c.670_671insC	c.(670-672)accfs	p.T224fs		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	4	Pro-rich.						DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TCCAGCCCAGACCCCCCCTTAC	0.703													C	50098263	-	C	50098262	7	5	745	1	0	1	1	0	0	0	0	0	12670	275	10	0	684	0	PRR12	19	50098262	Frame_Shift_Ins	INS	-	TCGA-TM-A84B-01A-11D-A36O-08	5081028	50098262	9030721	43	56341											
NLRP2	55655	broad.mit.edu	37	chr19	55494752	55494752	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcctttggcctcgctaaCgagaagagagccaaggagtt	11	9	11	10	2	0	2	0	0	0	2	2	5	1	3	3	2	3	2	3	2	4	4			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr19:55494752C>T	ENST00000543010.1	+	6	1829	c.1686C>T	c.(1684-1686)aaC>aaT	p.N562N	NLRP2_ENST00000263437.6_Silent_p.N559N|NLRP2_ENST00000537859.1_Silent_p.N540N|NLRP2_ENST00000427260.2_Silent_p.N539N|NLRP2_ENST00000538819.1_Silent_p.N538N|NLRP2_ENST00000391721.4_Silent_p.N538N|NLRP2_ENST00000448584.2_Silent_p.N562N|NLRP2_ENST00000339757.7_Silent_p.N540N	NM_001174081.1	NP_001167552.1	Q9NX02	NALP2_HUMAN	NLR family, pyrin domain containing 2	562					apoptosis|positive regulation of caspase activity|positive regulation of interleukin-1 beta secretion	cytoplasm	ATP binding|Pyrin domain binding			large_intestine(4)|liver(1)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	11			BRCA - Breast invasive adenocarcinoma(297;0.163)	GBM - Glioblastoma multiforme(193;0.028)		GCCTCGCTAACGAGAAGAGAG	0.542													T	55494752	C	T	55494752	2	4	745	1	0	0	0	0	0	0	0	1	10553	535	19	1		1	NLRP2	19	55494752	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08	5396490	55494752	3634231	44	56342											
HAO1	54363	broad.mit.edu	37	chr20	7915166	7915166	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcgccgtccacatgagccAtgcgctgcatggccgtagcc	6	7	12	16	4	0	1	0	1	0	0	2	1	1	1	5	1	4	4	5	1	1	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:7915166A>T	ENST00000378789.3	-	2	305	c.254T>A	c.(253-255)aTg>aAg	p.M85K		NM_017545.2	NP_060015.1	Q9UJM8	HAOX1_HUMAN	hydroxyacid oxidase (glycolate oxidase) 1	85	FMN hydroxy acid dehydrogenase.				cellular nitrogen compound metabolic process|fatty acid alpha-oxidation|glycolate catabolic process|glyoxylate metabolic process	peroxisomal matrix	FMN binding|glycolate oxidase activity|glyoxylate oxidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(19)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36						CACATGAGCCATGCGCTGCAT	0.532													T	7915166	A	T	7915166	3	4	745	1	0	0	0	0	1	0	0	0	7006	217	8	5	886	5	HAO1	20	7915166	Missense_Mutation	SNP	A	TCGA-TM-A84B-01A-11D-A36O-08		7915166	55110354	45	56343											
CDH22	64405	broad.mit.edu	37	chr20	44839196	44839196	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gggctgggattcgaagtccaGgcgctgcgggagggagcaga	8	5	20	8	3	0	1	0	0	0	1	2	5	1	4	1	5	2	3	1	5	1	1			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr20:44839196G>C	ENST00000372262.3	-	6	1436	c.1036C>G	c.(1036-1038)Ctg>Gtg	p.L346V	CDH22_ENST00000474438.1_5'UTR|CDH22_ENST00000537909.1_Missense_Mutation_p.L346V	NM_021248.1	NP_067071.1	Q9UJ99	CAD22_HUMAN	cadherin 22, type 2	346	Cadherin 3.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(3)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(4)|urinary_tract(3)	44		Myeloproliferative disorder(115;0.0122)				TCGAAGTCCAGGCGCTGCGGG	0.682													C	44839196	G	C	44839196	3	2	745	1	0	0	0	0	1	0	0	0	3137	991	35	4	1474	4	CDH22	20	44839196	Missense_Mutation	SNP	G	TCGA-TM-A84B-01A-11D-A36O-08	36924030	44839196	18186324	46	56344											
MAPK11	5600	broad.mit.edu	37	chr22	50705842	50705842	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taaaccaggaattgaacgtgCtcgtcgctcagcgcctggca	10	8	11	12	4	1	1	1	1	0	0	3	2	1	2	2	2	4	3	2	2	4	2			TCGA-TM-A84B-01A-11D-A36O-08	TCGA-TM-A84B-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6c782dd9-677c-4812-b310-acbef4325053	15750dd9-70fb-49e2-b349-b02ba6447d41	g.chr22:50705842C>T	ENST00000330651.6	-	4	475	c.375G>A	c.(373-375)gaG>gaA	p.E125E	MAPK11_ENST00000449719.2_Silent_p.E17E|MAPK11_ENST00000495277.1_5'UTR	NM_002751.5	NP_002742.3	Q15759	MK11_HUMAN	mitogen-activated protein kinase 11	125	Protein kinase.				activation of MAPK activity|innate immune response|mRNA metabolic process|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of muscle cell differentiation|Ras protein signal transduction|regulation of sequence-specific DNA binding transcription factor activity|stress-activated MAPK cascade|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|MAP kinase activity|protein binding			breast(1)|central_nervous_system(1)|lung(4)	6		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		ATTGAACGTGCTCGTCGCTCA	0.701													T	50705842	C	T	50705842	2	4	745	1	0	0	0	0	0	0	0	1	9348	796	28	2		2	MAPK11	22	50705842	Silent	SNP	C	TCGA-TM-A84B-01A-11D-A36O-08		50705842	598724	47	56345											
SPEN	23013	broad.mit.edu	37	chr1	16259547	16259547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gacagatgaggctgtatctgGcatcctggaaactgaggctg	10	9	14	8	0	1	3	0	2	1	1	2	5	2	4	1	4	1	4	1	4	2	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:16259547G>A	ENST00000375759.3	+	11	7016	c.6812G>A	c.(6811-6813)gGc>gAc	p.G2271D		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	2271	Interaction with MSX2 (By similarity).|RID.				interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|Notch signaling pathway	nucleus	nucleotide binding|protein binding|RNA binding			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GCTGTATCTGGCATCCTGGAA	0.557													A	16259547	G	A	16259547	3	1	746	1	0	0	0	0	1	0	0	0	15134	1203	42	2	6854	2	SPEN	1	16259547	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		16259547	232991074	1	56346											
KIF21B	23046	broad.mit.edu	37	chr1	200960121	200960121	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattttgcggttccactggcGcacgatgctggagacagagc	8	9	14	10	3	0	2	0	0	0	2	1	5	1	2	1	3	3	3	1	3	0	3			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:200960121G>C	ENST00000332129.2	-	18	2927	c.2611C>G	c.(2611-2613)Cgc>Ggc	p.R871G	KIF21B_ENST00000461742.2_Missense_Mutation_p.R871G|KIF21B_ENST00000422435.2_Missense_Mutation_p.R871G|KIF21B_ENST00000360529.5_Missense_Mutation_p.R871G	NM_001252102.1|NM_001252103.1|NM_017596.3	NP_001239031.1|NP_001239032.1|NP_060066.2	O75037	KI21B_HUMAN	kinesin family member 21B	871					microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(4)|large_intestine(8)|liver(1)|lung(27)|ovary(3)|pancreas(1)|prostate(5)|skin(8)|stomach(2)|urinary_tract(2)	83						TTCCACTGGCGCACGATGCTG	0.617													C	200960121	G	C	200960121	3	2	746	1	0	0	0	0	1	0	0	0	8347	1087	38	4	2331	4	KIF21B	1	200960121	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08	184700574	200960121	48290500	2	56347											
INTS7	25896	broad.mit.edu	37	chr1	212120037	212120037	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatgatggcattgcagaggCatgctgtgtgctgggggaaa	10	9	16	6	0	0	2	0	1	0	1	0	3	0	3	0	4	3	5	0	4	2	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:212120037C>T	ENST00000366994.3	-	18	2431	c.2327G>A	c.(2326-2328)tGc>tAc	p.C776Y	INTS7_ENST00000440600.2_Missense_Mutation_p.C727Y|INTS7_ENST00000366993.3_Missense_Mutation_p.C762Y|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Intron	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	776					snRNA processing	integrator complex	protein binding			NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ATTGCAGAGGCATGCTGTGTG	0.358													T	212120037	C	T	212120037	3	4	746	1	0	0	0	0	1	0	0	0	7841	710	25	2	573	2	INTS7	1	212120037	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	11159916	212120037	37130584	3	56348											
H3F3A	3020	broad.mit.edu	37	chr1	226252135	226252135	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctacaaaagccgctcgcaAgagtgcgccctctactggag	10	6	12	13	3	1	1	0	0	1	1	2	2	1	2	2	2	4	3	2	2	5	2			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:226252135A>T	ENST00000366814.3	+	2	204	c.83A>T	c.(82-84)aAg>aTg	p.K28M	H3F3A_ENST00000366815.3_Missense_Mutation_p.K28M|H3F3A_ENST00000366813.1_Missense_Mutation_p.K28M|H3F3A_ENST00000366816.1_Missense_Mutation_p.K28M					H3 histone, family 3A									p.K28M(79)		central_nervous_system(116)|endometrium(2)|large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	123	Breast(184;0.179)			GBM - Glioblastoma multiforme(131;0.203)		GCCGCTCGCAAGAGTGCGCCC	0.483			Mis		glioma						OREG0014293	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	226252135	A	T	226252135	3	4	746	1	0	0	0	0	1	0	0	0	6988	72	3	5	85	5	H3F3A	1	226252135	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	14132098	226252135	22998486	4	56349											
OR11L1	391189	broad.mit.edu	37	chr1	248004826	248004826	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggagtgggctgcagatggCcaggtaacggtcataggcca	9	6	17	9	2	1	1	1	0	0	1	1	2	1	2	2	6	2	3	2	6	2	2			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr1:248004826C>T	ENST00000355784.2	-	1	428	c.373G>A	c.(373-375)Gcc>Acc	p.A125T		NM_001001959.1	NP_001001959.1	Q8NGX0	O11L1_HUMAN	olfactory receptor, family 11, subfamily L, member 1	125					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(5)|large_intestine(5)|lung(35)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57	all_cancers(71;8.78e-05)|all_epithelial(71;9.15e-06)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CTGCAGATGGCCAGGTAACGG	0.592													T	248004826	C	T	248004826	3	4	746	1	0	0	0	0	1	0	0	0	11006	739	26	2	599	2	OR11L1	1	248004826	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	21752691	248004826	1245795	5	56350											
PTPN4	5775	broad.mit.edu	37	chr2	120690023	120690023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccaagtaagcccttggcacGgaaattaatggattgggaag	13	8	12	8	1	0	0	0	0	0	0	0	3	0	3	2	4	1	2	2	4	5	4			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr2:120690023G>A	ENST00000263708.2	+	14	1865	c.1094G>A	c.(1093-1095)cGg>cAg	p.R365Q	PTPN4_ENST00000544261.1_5'UTR	NM_002830.3	NP_002821.1	P29074	PTN4_HUMAN	protein tyrosine phosphatase, non-receptor type 4 (megakaryocyte)	365						cytoplasm|cytoskeleton|internal side of plasma membrane	cytoskeletal protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|urinary_tract(1)	30					Alendronate(DB00630)	CCCTTGGCACGGAAATTAATG	0.353													A	120690023	G	A	120690023	3	1	746	1	0	0	0	0	1	0	0	0	12878	1116	39	1	1144	1	PTPN4	2	120690023	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		120690023	122509350	6	56351											
PFKFB4	5210	broad.mit.edu	37	chr3	48594202	48594202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttctgtgtcaattcccgtggGgacgccatcccggggccggg	4	9	15	13	4	2	0	1	0	1	0	4	1	4	1	4	5	0	0	4	5	1	2			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr3:48594202G>A	ENST00000232375.3	-	1	121	c.9C>T	c.(7-9)tcC>tcT	p.S3S	PFKFB4_ENST00000536104.1_Intron|PFKFB4_ENST00000545984.1_Silent_p.S3S|PFKFB4_ENST00000383734.2_Silent_p.S3S|PFKFB4_ENST00000416568.1_Silent_p.S3S|PFKFB4_ENST00000490115.1_5'UTR|PFKFB4_ENST00000541519.1_5'UTR	NM_004567.2	NP_004558.1	Q16877	F264_HUMAN	6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4	3	6-phosphofructo-2-kinase.				fructose 2,6-bisphosphate metabolic process|glycolysis	cytosol	6-phosphofructo-2-kinase activity|ATP binding|fructose-2,6-bisphosphate 2-phosphatase activity			breast(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|urinary_tract(1)	14				BRCA - Breast invasive adenocarcinoma(193;0.0003)|KIRC - Kidney renal clear cell carcinoma(197;0.00596)|Kidney(197;0.00684)		ATTCCCGTGGGGACGCCATCC	0.706													A	48594202	G	A	48594202	2	1	746	1	0	0	0	0	0	0	0	1	11840	1219	43	2		2	PFKFB4	3	48594202	Silent	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		48594202	149428228	7	56352											
WDFY3	23001	broad.mit.edu	37	chr4	85658466	85658466	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctctaagacttgtttcttacTatgtatcagttcagtccaaa	11	16	5	9	0	4	1	2	0	2	1	5	1	5	1	1	0	1	3	1	0	5	7			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr4:85658466T>C	ENST00000322366.6	-	41	7035	c.6628A>G	c.(6628-6630)Agt>Ggt	p.S2210G	WDFY3_ENST00000295888.4_Missense_Mutation_p.S2210G			Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2210						cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		TGTTTCTTACTATGTATCAGT	0.393													C	85658466	T	C	85658466	3	2	746	1	0	0	0	0	1	0	0	0	17372	1522	53	3	4064	3	WDFY3	4	85658466	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		85658466	105495810	8	56353											
ADAMTS2	9509	broad.mit.edu	37	chr5	178581188	178581188	+	Frame_Shift_Del	DEL	C	C	-																															cctgcccgtcgtgctccatgCccagcctgcgagggccgagg																										TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr5:178581188delC	ENST00000251582.7	-	8	1345	c.1244delG	c.(1243-1245)ggcfs	p.G415fs	ADAMTS2_ENST00000274609.5_Frame_Shift_Del_p.G415fs	NM_014244.4	NP_055059.2	O95450	ATS2_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 2	415	Peptidase M12B.				collagen catabolic process	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(31)|ovary(1)|pancreas(3)|prostate(2)|skin(7)	72	all_cancers(89;0.000456)|all_epithelial(37;0.000138)|Renal(175;0.000159)|Lung NSC(126;0.00184)|all_lung(126;0.00326)	all_cancers(40;0.00604)|all_neural(177;0.00411)|Medulloblastoma(196;0.00508)|Lung NSC(249;0.0569)|all_lung(500;0.129)|all_hematologic(541;0.211)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	GBM - Glioblastoma multiforme(465;0.0473)		GTGCTCCATGCCCAGCCTGCG	0.697													-	178581188	C	-	178581188	7	5	746	1	0	1	0	1	0	0	0	0	265	739	26	0	2526	0	ADAMTS2	5	178581188	Frame_Shift_Del	DEL	C	TCGA-TM-A84C-01A-11D-A36O-08		178581188	2334072	9	56354											
ATXN1	6310	broad.mit.edu	37	chr6	16327894	16327894	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgctgCtgctgctgctgctgatgctg	1	14	14	12	0	0	1	0	1	0	0	0	1	0	1	0	0	12	12	0	0	0	0			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:16327894C>A	ENST00000244769.4	-	8	1584	c.648G>T	c.(646-648)caG>caT	p.Q216H	ATXN1_ENST00000436367.1_Missense_Mutation_p.Q216H	NM_000332.3	NP_000323.2	P54253	ATX1_HUMAN	ataxin 1	216	Poly-Gln.				cell death|negative regulation of transcription, DNA-dependent|nuclear export|RNA processing	cytoplasm|nuclear inclusion body|nuclear matrix|nucleoplasm	identical protein binding|poly(G) RNA binding|poly(U) RNA binding|protein binding|protein C-terminus binding|protein self-association			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|lung(12)|prostate(2)|skin(7)|upper_aerodigestive_tract(2)	44	Breast(50;0.063)|Ovarian(93;0.0733)	all_hematologic(90;0.000682)|Ovarian(999;0.00973)				gctgctgctgctgctgctgct	0.662													A	16327894	C	A	16327894	3	1	746	1	0	0	0	0	1	0	0	0	1214	796	28	4	1807	4	ATXN1	6	16327894	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		16327894	154787173	10	56355											
SYNE1	23345	broad.mit.edu	37	chr6	152501297	152501297	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gagcttctctatcatttcttCaatgagaatgtctccattct	9	17	5	10	0	6	1	2	1	4	1	8	3	6	1	1	0	1	1	1	0	3	5			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr6:152501297C>G	ENST00000367255.5	-	129	24035	c.23434G>C	c.(23434-23436)Gaa>Caa	p.E7812Q	SYNE1_ENST00000356820.4_Missense_Mutation_p.E2336Q|SYNE1_ENST00000448038.1_Missense_Mutation_p.E7741Q|SYNE1_ENST00000341594.5_Missense_Mutation_p.E7424Q|SYNE1_ENST00000265368.4_Missense_Mutation_p.E7812Q|SYNE1_ENST00000423061.1_Missense_Mutation_p.E7741Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	7812					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)		ATCATTTCTTCAATGAGAATG	0.388										HNSCC(10;0.0054)			G	152501297	C	G	152501297	3	3	746	1	0	0	0	0	1	0	0	0	15542	835	29	4	3104	4	SYNE1	6	152501297	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	136173403	152501297	18613770	11	56356											
POM121	9883	broad.mit.edu	37	chr7	72398976	72398976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttgagcccctggtggccaAtggagtccccgcttcttttg	5	13	11	12	1	1	1	0	1	1	0	2	2	2	2	5	3	1	1	5	3	1	4	rs147859349		TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr7:72398976A>G	ENST00000395270.1	+	7	1322	c.281A>G	c.(280-282)aAt>aGt	p.N94S	POM121_ENST00000434423.2_Missense_Mutation_p.N359S|POM121_ENST00000446813.1_Missense_Mutation_p.N94S|POM121_ENST00000358357.3_Missense_Mutation_p.N94S|POM121_ENST00000257622.4_Missense_Mutation_p.N94S	NM_001257190.1	NP_001244119.1	Q96HA1	P121A_HUMAN	POM121 transmembrane nucleoporin	359	Pore side (Potential).|Required for targeting to the nucleus and nuclear pore complex.				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore				NS(1)|breast(1)|endometrium(9)|kidney(4)|large_intestine(6)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Lung NSC(55;0.163)				CTGGTGGCCAATGGAGTCCCC	0.468													G	72398976	A	G	72398976	3	3	746	1	0	0	0	0	1	0	0	0	12316	101	4	3	291	3	POM121	7	72398976	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08		72398976	86739687	12	56357											
MTBP	27085	broad.mit.edu	37	chr8	121468835	121468835	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tacctttctgctaatgttgtAtctttagaagatctcagaaa	12	16	6	7	0	3	3	1	0	3	3	4	3	3	3	1	0	2	3	1	0	6	7			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr8:121468835A>G	ENST00000305949.1	+	7	717	c.672A>G	c.(670-672)gtA>gtG	p.V224V		NM_022045.4	NP_071328.2	Q96DY7	MTBP_HUMAN	Mdm2, transformed 3T3 cell double minute 2, p53 binding protein (mouse) binding protein, 104kDa	224					cell cycle arrest					NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	30	Lung NSC(37;5.68e-08)|Ovarian(258;0.00769)|all_neural(195;0.0804)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00503)			CTAATGTTGTATCTTTAGAAG	0.308													G	121468835	A	G	121468835	2	3	746	1	0	0	0	0	0	0	0	1	9988	436	16	3		3	MTBP	8	121468835	Silent	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08		121468835	24895187	13	56358											
PSAT1	29968	broad.mit.edu	37	chr9	80921289	80921289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcctacgtgtattattgcGcaaatgagacggtgcatggt	9	12	11	9	3	0	1	0	1	0	1	1	2	1	1	2	2	3	3	2	2	4	4			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr9:80921289G>A	ENST00000376588.3	+	5	525	c.457G>A	c.(457-459)Gca>Aca	p.A153T	PSAT1_ENST00000347159.2_Missense_Mutation_p.A153T	NM_058179.2	NP_478059.1	Q9Y617	SERC_HUMAN	phosphoserine aminotransferase 1	153					L-serine biosynthetic process|pyridoxine biosynthetic process		O-phospho-L-serine:2-oxoglutarate aminotransferase activity|pyridoxal phosphate binding	p.A153T(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|urinary_tract(1)	20					L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)	GTATTATTGCGCAAATGAGAC	0.463													A	80921289	G	A	80921289	3	1	746	1	0	0	0	0	1	0	0	0	12729	1087	38	1	475	1	PSAT1	9	80921289	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		80921289	60292142	14	56359											
SIRT3	23410	broad.mit.edu	37	chr11	219035	219035	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcggtcaagctggcaaaagGctccacctgaaaaatgggcc	12	6	11	12	1	1	1	1	1	0	0	3	1	2	1	3	4	1	3	3	4	5	0			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:219035G>C	ENST00000382743.4	-	6	1078	c.976C>G	c.(976-978)Cct>Gct	p.P326A	SIRT3_ENST00000529382.1_Missense_Mutation_p.P184A|SIRT3_ENST00000525319.1_Missense_Mutation_p.P245A|SIRT3_ENST00000524564.1_Missense_Mutation_p.P262A|SIRT3_ENST00000532956.1_Missense_Mutation_p.P272A	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	326	Deacetylase sirtuin-type.				chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTGGCAAAAGGCTCCACCTGA	0.602													C	219035	G	C	219035	3	2	746	1	0	0	0	0	1	0	0	0	14433	1203	42	4	231	4	SIRT3	11	219035	Missense_Mutation	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08		219035	134787481	15	56360											
PTPRJ	5795	broad.mit.edu	37	chr11	48134355	48134355	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccacaggggaaaatggcAtaacgcagatcagcagtaca	15	6	11	9	1	1	1	1	0	0	1	1	2	1	2	1	3	4	4	1	3	4	3			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:48134355A>G	ENST00000418331.2	+	3	524	c.172A>G	c.(172-174)Ata>Gta	p.I58V	PTPRJ_ENST00000440289.2_Missense_Mutation_p.I58V|PTPRJ_ENST00000526550.1_3'UTR	NM_002843.3	NP_002834.3	Q12913	PTPRJ_HUMAN	protein tyrosine phosphatase, receptor type, J	58					contact inhibition|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of MAP kinase activity|negative regulation of platelet-derived growth factor receptor signaling pathway|negative regulation of protein kinase B signaling cascade|negative regulation of T cell receptor signaling pathway|negative regulation of vascular permeability|platelet-derived growth factor receptor signaling pathway|positive chemotaxis|positive regulation of focal adhesion assembly|positive regulation of protein kinase B signaling cascade|positive regulation of survival gene product expression	cell surface|cell-cell junction|immunological synapse|integral to plasma membrane|ruffle membrane	beta-catenin binding|delta-catenin binding|gamma-catenin binding|mitogen-activated protein kinase binding|platelet-derived growth factor receptor binding|protein tyrosine phosphatase activity			breast(3)|endometrium(7)|kidney(7)|large_intestine(5)|lung(15)|ovary(1)|prostate(2)|skin(6)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAAAATGGCATAACGCAGAT	0.428													G	48134355	A	G	48134355	3	3	746	1	0	0	0	0	1	0	0	0	12892	217	8	3	182	3	PTPRJ	11	48134355	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	47915320	48134355	86872161	16	56361											
SLC22A10	387775	broad.mit.edu	37	chr11	63070001	63070001	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttccattttggccaacaCgtttgtgcccaaaggtgaga	9	12	9	11	1	0	1	0	1	0	1	1	2	1	1	4	2	2	1	4	2	2	4			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr11:63070001C>T	ENST00000332793.6	+	7	1273	c.1271C>T	c.(1270-1272)aCg>aTg	p.T424M	SLC22A10_ENST00000535888.1_Intron|SLC22A10_ENST00000526800.1_Intron|SLC22A10_ENST00000525620.1_Intron|SLC22A10_ENST00000544661.1_Intron	NM_001039752.3	NP_001034841.3	Q63ZE4	S22AA_HUMAN	solute carrier family 22, member 10	424						integral to membrane	transmembrane transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TTGGCCAACACGTTTGTGCCC	0.433													T	63070001	C	T	63070001	3	4	746	1	0	0	0	0	1	0	0	0	14535	536	19	1	1297	1	SLC22A10	11	63070001	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08	14935646	63070001	71936515	17	56362											
TYRO3	7301	broad.mit.edu	37	chr15	41865222	41865222	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacccctccagaccctgaTccggttcatggtggacattg	7	10	9	15	1	1	2	1	1	0	1	3	3	3	3	6	3	1	1	6	3	1	3			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr15:41865222T>G	ENST00000263798.3	+	16	2122	c.1898T>G	c.(1897-1899)aTc>aGc	p.I633S	TYRO3_ENST00000559066.1_Missense_Mutation_p.I588S	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	633	Protein kinase.					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		CAGACCCTGATCCGGTTCATG	0.592													G	41865222	T	G	41865222	3	3	746	1	0	0	0	0	1	0	0	0	16916	1435	50	5	1960	5	TYRO3	15	41865222	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		41865222	60666170	18	56363											
ANKFY1	51479	broad.mit.edu	37	chr17	4088218	4088218	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgccaagctggtcagggatgCggcctcctttggcagaggca	7	7	15	12	2	1	1	1	0	0	1	2	2	2	2	3	5	2	3	3	5	1	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:4088218C>T	ENST00000341657.4	-	12	1629	c.1594G>A	c.(1594-1596)Gca>Aca	p.A532T	ANKFY1_ENST00000574367.1_Missense_Mutation_p.A532T|ANKFY1_ENST00000573722.1_5'UTR|ANKFY1_ENST00000570535.1_Missense_Mutation_p.A574T|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	532						endosome membrane	metal ion binding|protein binding	p.A532T(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GTCAGGGATGCGGCCTCCTTT	0.622													T	4088218	C	T	4088218	3	4	746	1	0	0	0	0	1	0	0	0	626	768	27	1	1974	1	ANKFY1	17	4088218	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		4088218	77106992	19	56364											
NF1	4763	broad.mit.edu	37	chr17	29508796	29508797	+	Frame_Shift_Ins	INS	-	-	A																															accagatcccacagactgatINSatggctggtaaggatacgat																										TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29508796_29508797insA	ENST00000358273.4	+	7	1106_1107	c.723_724insA	c.(724-726)atgfs	p.M242fs	NF1_ENST00000356175.3_Frame_Shift_Ins_p.M242fs|NF1_ENST00000431387.4_Frame_Shift_Ins_p.M242fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	242					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CACAGACTGATATGGCTGGTAA	0.317			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29508797	-	A	29508796	7	5	746	1	0	1	1	0	0	0	0	0	10432	1403	49	0	749	0	NF1	17	29508796	Frame_Shift_Ins	INS	-	TCGA-TM-A84C-01A-11D-A36O-08	25420578	29508796	51686414	20	56365											
NF1	4763	broad.mit.edu	37	chr17	29665157	29665157	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ataatccgtattcttagcaaGgtacctgttccgccctcact	9	13	6	13	2	2	0	1	0	1	0	4	0	4	0	4	1	2	4	4	1	5	6			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:29665157G>A	ENST00000358273.4	+	45	7202	c.6819G>A	c.(6817-6819)aaG>aaA	p.K2273K	NF1_ENST00000356175.3_Splice_Site_p.K2252K|NF1_ENST00000417592.2_Intron|NF1_ENST00000444181.2_Splice_Site_p.K66K	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	2273					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(3)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TTCTTAGCAAGGTACCTGTTC	0.388			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			A	29665157	G	A	29665157	5	1	746	1	0	0	0	0	0	0	1	0	10432	1014	35	2	7058	2	NF1	17	29665157	Splice_Site	SNP	G	TCGA-TM-A84C-01A-11D-A36O-08	156361	29665157	51530053	21	56366											
PPM1D	8493	broad.mit.edu	37	chr17	58734108	58734108	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaaactttaccaatgaagAtgagttatacctgaacctga	15	10	9	7	0	0	5	0	4	0	1	0	6	0	6	3	1	4	1	3	1	7	4			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr17:58734108A>G	ENST00000305921.3	+	5	1398	c.1166A>G	c.(1165-1167)gAt>gGt	p.D389G		NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	389					negative regulation of cell proliferation|protein dephosphorylation|response to radiation	nucleus|protein serine/threonine phosphatase complex	metal ion binding|protein binding|protein serine/threonine phosphatase activity			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACCAATGAAGATGAGTTATAC	0.468													G	58734108	A	G	58734108	3	3	746	1	0	0	0	0	1	0	0	0	12419	333	12	3	1184	3	PPM1D	17	58734108	Missense_Mutation	SNP	A	TCGA-TM-A84C-01A-11D-A36O-08	29068951	58734108	22461102	22	56367											
EMR2	30817	broad.mit.edu	37	chr19	14854471	14854471	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggaagatgaagacacccTgcaggctgttgatgatggtg	11	8	14	8	0	0	5	0	3	0	2	0	6	0	6	2	3	1	3	2	3	2	1			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:14854471T>C	ENST00000315576.3	-	19	2760	c.2309A>G	c.(2308-2310)cAg>cGg	p.Q770R	EMR2_ENST00000601345.1_Missense_Mutation_p.Q759R|EMR2_ENST00000594294.1_Missense_Mutation_p.Q721R|EMR2_ENST00000392965.3_Missense_Mutation_p.Q712R|EMR2_ENST00000353005.1_Missense_Mutation_p.Q628R|EMR2_ENST00000392967.2_Missense_Mutation_p.Q759R|EMR2_ENST00000346057.1_Missense_Mutation_p.Q721R|EMR2_ENST00000595839.1_Missense_Mutation_p.Q628R|EMR2_ENST00000594076.1_Missense_Mutation_p.Q677R|EMR2_ENST00000353876.1_Missense_Mutation_p.Q677R|EMR2_ENST00000596991.2_Missense_Mutation_p.Q759R	NM_013447.3	NP_038475.2	Q9UHX3	EMR2_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 2	770					cell adhesion|neuropeptide signaling pathway	integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	48						GAAGACACCCTGCAGGCTGTT	0.607													C	14854471	T	C	14854471	3	2	746	1	0	0	0	0	1	0	0	0	5146	1580	55	3	174	3	EMR2	19	14854471	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08		14854471	44274512	23	56368											
ZNF606	80095	broad.mit.edu	37	chr19	58491114	58491114	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcatagagtttttctcctgTgtgaattcctttatgatcac	8	19	6	8	0	3	3	2	2	1	1	5	3	4	3	2	0	0	1	2	0	3	7			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr19:58491114T>A	ENST00000341164.4	-	7	1554	c.934A>T	c.(934-936)Aca>Tca	p.T312S	ZNF606_ENST00000536132.1_Missense_Mutation_p.T222S	NM_025027.3	NP_079303.2	Q8WXB4	ZN606_HUMAN	zinc finger protein 606	312					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(5)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0168)		TTTTCTCCTGTGTGAATTCCT	0.343													A	58491114	T	A	58491114	3	1	746	1	0	0	0	0	1	0	0	0	18133	1696	59	5	1448	5	ZNF606	19	58491114	Missense_Mutation	SNP	T	TCGA-TM-A84C-01A-11D-A36O-08	43636643	58491114	637869	24	56369											
JAG1	182	broad.mit.edu	37	chr20	10622217	10622217	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggagactggaagaccgaCactcgcccacaccagtgcag	11	4	12	14	2	0	2	0	0	0	2	1	5	0	3	3	2	1	2	3	2	1	0			TCGA-TM-A84C-01A-11D-A36O-08	TCGA-TM-A84C-12A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	57d62c96-bc63-4121-b4ca-6162e23ed326	9a280df1-89bd-4b0b-8cc3-185457f517bc	g.chr20:10622217C>T	ENST00000254958.5	-	23	3322	c.2807G>A	c.(2806-2808)tGt>tAt	p.C936Y	JAG1_ENST00000423891.2_Missense_Mutation_p.C777Y	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	936					angiogenesis|cell communication|cell fate determination|endothelial cell differentiation|hemopoiesis|keratinocyte differentiation|myoblast differentiation|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation	extracellular region|integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding|structural molecule activity			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGAAGACCGACACTCGCCCAC	0.567									Alagille Syndrome				T	10622217	C	T	10622217	3	4	746	1	0	0	0	0	1	0	0	0	7992	478	17	2	865	2	JAG1	20	10622217	Missense_Mutation	SNP	C	TCGA-TM-A84C-01A-11D-A36O-08		10622217	52403303	25	56370											
UBR4	23352	broad.mit.edu	37	chr1	19468015	19468015	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtctccaggaccatcgactCagactgcagagagaaagctc	12	7	10	12	1	2	3	1	0	1	3	5	6	2	4	2	1	2	2	2	1	1	0			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:19468015C>G	ENST00000375267.2	-	57	8317	c.8314G>C	c.(8314-8316)Gag>Cag	p.E2772Q	UBR4_ENST00000375254.3_Missense_Mutation_p.E2772Q|UBR4_ENST00000375226.2_Missense_Mutation_p.E2783Q|UBR4_ENST00000375217.2_Missense_Mutation_p.E2800Q			Q5T4S7	UBR4_HUMAN	ubiquitin protein ligase E3 component n-recognin 4	2772					interspecies interaction between organisms	cytoplasm|cytoskeleton|integral to membrane|nucleus	calmodulin binding|ubiquitin-protein ligase activity|zinc ion binding			breast(7)|central_nervous_system(1)|cervix(2)|endometrium(23)|kidney(25)|large_intestine(25)|liver(2)|lung(47)|ovary(10)|pancreas(2)|prostate(7)|skin(5)|stomach(5)|upper_aerodigestive_tract(4)|urinary_tract(6)	171		Colorectal(325;3.46e-05)|Renal(390;0.000147)|all_lung(284;0.000328)|Lung NSC(340;0.000406)|Breast(348;0.000814)|Ovarian(437;0.00774)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00674)|BRCA - Breast invasive adenocarcinoma(304;5.43e-05)|Kidney(64;0.000337)|KIRC - Kidney renal clear cell carcinoma(64;0.00426)|STAD - Stomach adenocarcinoma(196;0.00715)|READ - Rectum adenocarcinoma(331;0.0816)		ACCATCGACTCAGACTGCAGA	0.552													G	19468015	C	G	19468015	3	3	747	1	0	0	0	0	1	0	0	0	17006	835	29	4	7437	4	UBR4	1	19468015	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		19468015	229782606	1	56371											
L1TD1	54596	broad.mit.edu	37	chr1	62676147	62676147	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactagagatgagtcatgaTgagcataaaaagcattcaca	17	9	8	7	0	3	4	3	3	0	1	3	5	3	4	0	0	2	2	0	0	4	3			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr1:62676147T>C	ENST00000498273.1	+	4	1996	c.1701T>C	c.(1699-1701)gaT>gaC	p.D567D		NM_001164835.1|NM_019079.4	NP_001158307.1|NP_061952.3	Q5T7N2	LITD1_HUMAN	LINE-1 type transposase domain containing 1	567										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	35						TGAGTCATGATGAGCATAAAA	0.423													C	62676147	T	C	62676147	2	2	747	1	0	0	0	0	0	0	0	1	8648	1461	51	3		3	L1TD1	1	62676147	Silent	SNP	T	TCGA-TM-A84F-01A-11D-A36O-08	43208132	62676147	186574474	2	56372											
TTN	7273	broad.mit.edu	37	chr2	179438184	179438184	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcacttcagggtttttgggCggatcagggggtccataagg	7	11	16	7	1	3	0	3	0	0	0	4	1	4	1	1	6	0	1	1	6	1	4			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179438184C>T	ENST00000589042.1	-	326	72899	c.72675G>A	c.(72673-72675)ccG>ccA	p.P24225P	TTN_ENST00000591111.1_Silent_p.P22584P|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.P15285P|TTN_ENST00000460472.2_Silent_p.P15160P|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Silent_p.P15352P|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000342992.6_Silent_p.P21657P|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	22584	Ig-like 121.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTTTTTGGGCGGATCAGGGG	0.438													T	179438184	C	T	179438184	2	4	747	1	0	0	0	0	0	0	0	1	16837	755	27	1		1	TTN	2	179438184	Silent	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		179438184	63761189	3	56373											
TTN	7273	broad.mit.edu	37	chr2	179595438	179595438	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggatgtgacccagccactAtacattctaaatcaatgaaa	15	10	7	9	0	2	2	1	2	1	0	2	3	2	3	2	1	2	0	2	1	6	4			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:179595438A>G	ENST00000589042.1	-	61	18046	c.17822T>C	c.(17821-17823)aTa>aCa	p.I5941T	TTN_ENST00000591111.1_Missense_Mutation_p.I5624T|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.I4697T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	5624	Ig-like 40.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCCAGCCACTATACATTCTAA	0.358													G	179595438	A	G	179595438	3	3	747	1	0	0	0	0	1	0	0	0	16837	449	16	3	86915	3	TTN	2	179595438	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08	157254	179595438	63603935	4	56374											
CWC22	57703	broad.mit.edu	37	chr2	180835797	180835797	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	catctctaagcataatacttCgtgtgccttaaataaaatac	15	13	4	9	1	1	0	0	0	1	0	3	0	1	0	1	0	4	1	1	0	8	7			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:180835797C>T	ENST00000410053.3	-	9	1110	c.811G>A	c.(811-813)Gaa>Aaa	p.E271K	CWC22_ENST00000295749.6_Missense_Mutation_p.E271K	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	271	MIF4G.					catalytic step 2 spliceosome	protein binding|RNA binding	p.E271K(1)		NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						CATAATACTTCGTGTGCCTTA	0.299													T	180835797	C	T	180835797	3	4	747	1	0	0	0	0	1	0	0	0	4101	893	31	1	1963	1	CWC22	2	180835797	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	1240359	180835797	62363576	5	56375											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	747	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	28277315	209113112	34086261	6	56376											
ROBO2	6092	broad.mit.edu	37	chr3	77638042	77638042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgggttttagcatatggttgTattggcgaagaaagaagagg	12	12	15	2	1	0	3	0	0	0	3	0	4	0	3	0	4	1	4	0	4	6	6			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:77638042T>C	ENST00000461745.1	+	17	3541	c.2641T>C	c.(2641-2643)Tat>Cat	p.Y881H	ROBO2_ENST00000332191.8_Missense_Mutation_p.Y881H|ROBO2_ENST00000487694.3_Missense_Mutation_p.Y897H	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	881					apoptosis involved in luteolysis|axon midline choice point recognition|cellular response to hormone stimulus|homophilic cell adhesion|metanephros development|negative regulation of negative chemotaxis|negative regulation of synaptogenesis|olfactory bulb interneuron development|positive regulation of axonogenesis|retinal ganglion cell axon guidance|ureteric bud development	axolemma|cell surface|integral to membrane	axon guidance receptor activity|identical protein binding			NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CATATGGTTGTATTGGCGAAG	0.408													C	77638042	T	C	77638042	3	2	747	1	0	0	0	0	1	0	0	0	13605	1638	57	3	2709	3	ROBO2	3	77638042	Missense_Mutation	SNP	T	TCGA-TM-A84F-01A-11D-A36O-08		77638042	120384388	7	56377											
PIK3CA	5290	broad.mit.edu	37	chr3	178952048	178952048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tagataaaactgagcaagagGctttggagtatttcatgaaa	16	11	10	4	0	1	4	1	2	0	2	1	5	1	5	0	2	2	3	0	2	6	5			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr3:178952048G>A	ENST00000263967.3	+	21	3260	c.3103G>A	c.(3103-3105)Gct>Act	p.A1035T		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1035	PI3K/PI4K.		A -> V (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.A1035T(2)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TGAGCAAGAGGCTTTGGAGTA	0.388		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			A	178952048	G	A	178952048	3	1	747	1	0	0	0	0	1	0	0	0	11990	1203	42	2	3181	2	PIK3CA	3	178952048	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	101314006	178952048	19070382	8	56378											
EREG	2069	broad.mit.edu	37	chr4	75248410	75248410	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgaacacttctttttaacCgtccaccaacctttaagcaa	12	13	4	12	1	1	1	0	1	1	0	2	1	2	1	4	0	4	1	4	0	5	6			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:75248410C>T	ENST00000244869.2	+	4	493	c.327C>T	c.(325-327)acC>acT	p.T109T	EREG_ENST00000503689.1_3'UTR	NM_001432.2	NP_001423.1	O14944	EREG_HUMAN	epiregulin	109					angiogenesis|cell-cell signaling|cytokine-mediated signaling pathway|epidermal growth factor receptor signaling pathway|female meiosis|keratinocyte differentiation|keratinocyte proliferation|luteinizing hormone signaling pathway|mRNA transcription|negative regulation of epithelial cell proliferation|negative regulation of smooth muscle cell differentiation|negative regulation of transcription, DNA-dependent|oocyte maturation|organ morphogenesis|ovarian cumulus expansion|ovulation|positive regulation of cell division|positive regulation of cytokine production|positive regulation of DNA replication|positive regulation of epidermal growth factor receptor activity|positive regulation of fibroblast proliferation|positive regulation of innate immune response|positive regulation of interleukin-6 biosynthetic process|positive regulation of mitosis|positive regulation of phosphorylation|positive regulation of smooth muscle cell proliferation|primary follicle stage|wound healing	extracellular space|integral to plasma membrane	epidermal growth factor receptor binding|growth factor activity			breast(1)|endometrium(2)|large_intestine(2)|lung(7)|skin(1)	13			Lung(101;0.196)			TCTTTTTAACCGTCCACCAAC	0.368													T	75248410	C	T	75248410	2	4	747	1	0	0	0	0	0	0	0	1	5261	639	23	1		1	EREG	4	75248410	Silent	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		75248410	115905866	9	56379											
MEPE	56955	broad.mit.edu	37	chr4	88766136	88766136	+	Frame_Shift_Del	DEL	A	A	-																															aattgtattttagcaggaagAaaaaaacaaagacaatattg																										TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr4:88766136delA	ENST00000497649.2	+	6	422	c.44delA	c.(43-45)gaafs	p.E15fs	MEPE_ENST00000540395.1_5'UTR|MEPE_ENST00000560249.1_5'UTR|MEPE_ENST00000395102.4_Frame_Shift_Del_p.E70fs|MEPE_ENST00000511670.1_Frame_Shift_Del_p.K83fs|MEPE_ENST00000424957.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000361056.3_Frame_Shift_Del_p.E39fs|MEPE_ENST00000508016.1_3'UTR			Q9NQ76	MEPE_HUMAN	matrix extracellular phosphoglycoprotein	39					skeletal system development	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding			cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(19)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000432)		TAGCAGGAAGAAAAAAACAAA	0.259													-	88766136	A	-	88766136	7	5	747	1	0	1	0	1	0	0	0	0	9553	246	9	0	126	0	MEPE	4	88766136	Frame_Shift_Del	DEL	A	TCGA-TM-A84F-01A-11D-A36O-08	13517726	88766136	102388140	10	56380											
TTYH3	80727	broad.mit.edu	37	chr7	2689592	2689592	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgacgcctacgtgaccaaaAtggtggaggagtactcggtg	10	8	14	9	3	0	2	0	2	0	0	1	4	0	4	2	4	2	1	2	4	4	2			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr7:2689592A>G	ENST00000258796.7	+	7	1046	c.841A>G	c.(841-843)Atg>Gtg	p.M281V	TTYH3_ENST00000477439.1_3'UTR|TTYH3_ENST00000407643.1_Missense_Mutation_p.M249V|TTYH3_ENST00000403167.1_Missense_Mutation_p.M110V	NM_025250.2	NP_079526.1	Q9C0H2	TTYH3_HUMAN	tweety family member 3	281						chloride channel complex|plasma membrane	chloride channel activity			kidney(1)|large_intestine(3)|lung(9)|prostate(2)|upper_aerodigestive_tract(2)	17		Ovarian(82;0.0112)		OV - Ovarian serous cystadenocarcinoma(56;2.04e-14)		CGTGACCAAAATGGTGGAGGA	0.622													G	2689592	A	G	2689592	3	3	747	1	0	0	0	0	1	0	0	0	16843	101	4	3	867	3	TTYH3	7	2689592	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08		2689592	156449071	11	56381											
GSX1	219409	broad.mit.edu	37	chr13	28367943	28367944	+	Frame_Shift_Ins	INS	-	-	T																															cgtggcggcggcggcgggggINStgccggtggtggcgggagcg																										TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr13:28367943_28367944insT	ENST00000302945.2	+	2	701_702	c.653_654insT	c.(652-657)ggtgccfs	p.A219fs		NM_145657.1	NP_663632.1	Q9H4S2	GSX1_HUMAN	GS homeobox 1	219	Poly-Gly.				positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|large_intestine(1)|lung(1)|ovary(1)	4		Lung SC(185;0.0161)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	GBM - Glioblastoma multiforme(144;0.0402)|all cancers(112;0.0404)|OV - Ovarian serous cystadenocarcinoma(117;0.197)		ggcggcgggggtgccggtggtg	0.629													T	28367944	-	T	28367943	7	5	747	1	0	1	1	0	0	0	0	0	6904	1261	44	0	659	0	GSX1	13	28367943	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08		28367943	86801935	12	56382											
DUOX2	50506	broad.mit.edu	37	chr15	45397878	45397878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgaagaagatctccaggatgCgttcccgctgctgctttgtc	7	12	11	11	2	1	3	0	1	1	2	4	4	2	4	2	1	3	4	2	1	2	2			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:45397878C>T	ENST00000389039.6	-	18	2682	c.2297G>A	c.(2296-2298)cGc>cAc	p.R766H	DUOX2_ENST00000603300.1_Missense_Mutation_p.R766H			Q9NRD8	DUOX2_HUMAN	dual oxidase 2	766					cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|response to virus	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|peroxidase activity			NS(2)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(7)|urinary_tract(1)	63		all_cancers(109;3.79e-11)|all_epithelial(112;2.92e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.05e-18)|GBM - Glioblastoma multiforme(94;4.23e-07)|COAD - Colon adenocarcinoma(120;0.0668)|Colorectal(133;0.068)		CTCCAGGATGCGTTCCCGCTG	0.562													T	45397878	C	T	45397878	3	4	747	1	0	0	0	0	1	0	0	0	4840	768	27	1	2417	1	DUOX2	15	45397878	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08		45397878	57133514	13	56383											
TCF12	6938	broad.mit.edu	37	chr15	57524624	57524625	+	Frame_Shift_Ins	INS	-	-	C																															aaccttcattcacatgaccgINScttggtaggctataacacgt																										TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:57524624_57524625insC	ENST00000267811.5	+	10	1125_1126	c.821_822insC	c.(820-825)cgcttgfs	p.RL274fs	TCF12_ENST00000438423.2_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000333725.5_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000452095.2_Frame_Shift_Ins_p.RL270fs|TCF12_ENST00000543579.1_Frame_Shift_Ins_p.RL104fs|TCF12_ENST00000557843.1_Frame_Shift_Ins_p.RL274fs|TCF12_ENST00000537840.1_Intron|TCF12_ENST00000560764.1_Intron|TCF12_ENST00000343827.3_Frame_Shift_Ins_p.RL104fs	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12	274					immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		TCACATGACCGCTTGGTAGGCT	0.446			T	TEC	extraskeletal myxoid chondrosarcoma								C	57524625	-	C	57524624	7	5	747	1	0	1	1	0	0	0	0	0	15787	1087	38	0	928	0	TCF12	15	57524624	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08	12126746	57524624	45006768	14	56384											
HERC1	8925	broad.mit.edu	37	chr15	63933734	63933734	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	caaaaatgctctcatgcaggGagccatgttcaatcccagaa	14	8	8	11	0	2	1	2	0	1	1	4	2	3	2	2	1	3	3	2	1	4	1			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:63933734G>C	ENST00000443617.2	-	60	11629	c.11542C>G	c.(11542-11544)Ccc>Gcc	p.P3848A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3848					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTCATGCAGGGAGCCATGTTC	0.483													C	63933734	G	C	63933734	3	2	747	1	0	0	0	0	1	0	0	0	7112	1174	41	4	3119	4	HERC1	15	63933734	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	6409110	63933734	38597658	15	56385											
IQGAP1	8826	broad.mit.edu	37	chr15	91016190	91016190	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttagttcgacaggaattccGatccaggatgaatttcctga	11	12	9	9	2	0	2	0	2	0	0	4	6	3	4	3	2	0	1	3	2	3	4			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr15:91016190G>A	ENST00000268182.5	+	19	2421	c.2297G>A	c.(2296-2298)cGa>cAa	p.R766Q	IQGAP1_ENST00000560738.1_Missense_Mutation_p.R194Q	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	766	IQ 1.				energy reserve metabolic process|regulation of insulin secretion|small GTPase mediated signal transduction	actin filament|cytoplasm|midbody|nucleus|plasma membrane	calmodulin binding|GTPase inhibitor activity|protein phosphatase binding|Ras GTPase activator activity			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			CAGGAATTCCGATCCAGGATG	0.517													A	91016190	G	A	91016190	3	1	747	1	0	0	0	0	1	0	0	0	7872	1058	37	1	2371	1	IQGAP1	15	91016190	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	27082456	91016190	11515202	16	56386											
TP53	7157	broad.mit.edu	37	chr17	7577139	7577139	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcacctcaaagctgttccGtcccagtagattaccactac	11	9	6	15	2	1	1	1	0	0	1	3	1	3	1	4	0	3	4	4	0	4	4	rs55832599		TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577139G>A	ENST00000420246.2	-	8	931	c.799C>T	c.(799-801)Cgg>Tgg	p.R267W	TP53_ENST00000359597.4_Missense_Mutation_p.R267W|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R267W|TP53_ENST00000445888.2_Missense_Mutation_p.R267W|TP53_ENST00000269305.4_Missense_Mutation_p.R267W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	267	Interaction with AXIN1 (By similarity).|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> H (in a sporadic cancer; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation; dbSNP:rs55832599).		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.R267W(25)|p.0?(8)|p.?(3)|p.G262_F270delGNLLGRNSF(2)|p.G266_E271delGRNSFE(2)|p.G262_S269delGNLLGRNS(2)|p.G266fs*4(1)|p.L265_K305del41(1)|p.E258fs*71(1)|p.R267G(1)|p.R267R(1)|p.L265_R267delLGR(1)|p.G266_N268delGRN(1)|p.G262fs*2(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)		AAGCTGTTCCGTCCCAGTAGA	0.522		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)			A	7577139	G	A	7577139	3	1	747	1	0	0	0	0	1	0	0	0	16482	1144	40	1	487	1	TP53	17	7577139	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		7577139	73618071	17	56387											
TP53	7157	broad.mit.edu	37	chr17	7577532	7577532	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtgtgatgatggtgaggatgGgcctccggttcatgccgccc	5	10	16	10	2	1	3	1	3	0	0	2	4	2	4	4	4	1	1	4	4	0	1			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:7577532G>C	ENST00000420246.2	-	7	881	c.749C>G	c.(748-750)cCc>cGc	p.P250R	TP53_ENST00000359597.4_Missense_Mutation_p.P250R|TP53_ENST00000413465.2_Missense_Mutation_p.P250R|TP53_ENST00000455263.2_Missense_Mutation_p.P250R|TP53_ENST00000445888.2_Missense_Mutation_p.P250R|TP53_ENST00000269305.4_Missense_Mutation_p.P250R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	250	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		P -> A (in sporadic cancers; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> Q (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.P250L(45)|p.0?(8)|p.?(5)|p.P250H(4)|p.P250F(3)|p.P250N(2)|p.M246_P250delMNRRP(2)|p.P250_L252delPIL(2)|p.P250Q(2)|p.R248_P250delRRP(1)|p.P250_T253delPILT(1)|p.N247_P250delNRRP(1)|p.R249_P250delRP(1)|p.R249_T256delRPILTIIT(1)|p.I251fs*94(1)|p.R249_I251delRPI(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)		GGTGAGGATGGGCCTCCGGTT	0.577		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)			C	7577532	G	C	7577532	3	2	747	1	0	0	0	0	1	0	0	0	16482	1232	43	4	541	4	TP53	17	7577532	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08	393	7577532	73617678	18	56388											
ARHGEF15	22899	broad.mit.edu	37	chr17	8215743	8215743	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgtctgggtcaccctgcaCgcctctgctccccatggctg	3	9	11	18	2	3	0	1	0	2	0	4	0	4	0	5	2	2	3	5	2	0	0			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:8215743C>T	ENST00000361926.3	+	2	496	c.386C>T	c.(385-387)aCg>aTg	p.T129M	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.T129M	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	129	Pro-rich.				negative regulation of synapse maturation|regulation of Rho protein signal transduction	dendrite|intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCACCCTGCACGCCTCTGCTC	0.672													T	8215743	C	T	8215743	3	4	747	1	0	0	0	0	1	0	0	0	901	536	19	1	388	1	ARHGEF15	17	8215743	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	638211	8215743	72979467	19	56389											
MED1	5469	broad.mit.edu	37	chr17	37580057	37580059	+	In_Frame_Del	DEL	GAG	GAG	-																															cactgttggcactggtgattGaggagaaggaaggggtcctt																										TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:37580057_37580059delGAG	ENST00000300651.6	-	12	1090_1092	c.867_869delCTC	c.(865-870)tcctca>tca	p.289_290SS>S	MED1_ENST00000394287.3_In_Frame_Del_p.289_290SS>S	NM_004774.3	NP_004765.2	Q15648	MED1_HUMAN	mediator complex subunit 1	289	Interaction with ESR1.|Interaction with the Mediator complex and THRA.|Interaction with the Mediator complex.				androgen biosynthetic process|androgen receptor signaling pathway|cellular lipid metabolic process|fat cell differentiation|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription initiation from RNA polymerase II promoter	mediator complex	DNA binding|estrogen receptor binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|peroxisome proliferator activated receptor binding|receptor activity|retinoic acid receptor binding|RNA polymerase II transcription cofactor activity|thyroid hormone receptor binding|vitamin D receptor binding			NS(1)|breast(2)|cervix(3)|kidney(3)|large_intestine(7)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(7)|urinary_tract(1)	59		Ovarian(249;1.78e-06)|Lung SC(565;0.0262)	Lung(15;0.0178)|LUAD - Lung adenocarcinoma(14;0.146)	UCEC - Uterine corpus endometrioid carcinoma (308;6.64e-05)|BRCA - Breast invasive adenocarcinoma(366;0.00136)|READ - Rectum adenocarcinoma(1115;0.0649)		ACTGGTGATTGAGGAGAAGGAAG	0.409										HNSCC(31;0.082)			-	37580059	GAG	-	37580057	7	5	747	1	0	1	0	1	0	0	0	0	9500	1294	45	0	3900	0	MED1	17	37580057	In_Frame_Del	DEL	GAG	TCGA-TM-A84F-01A-11D-A36O-08	29364314	37580057	43615153	20	56390											
ABCA9	10350	broad.mit.edu	37	chr17	67023806	67023806	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctccacttcatgtggcaaaAtcccttttattttagcaaac	11	15	4	11	0	2	0	1	0	1	0	4	0	3	0	2	1	2	2	2	1	5	5			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:67023806A>G	ENST00000340001.4	-	13	1977	c.1766T>C	c.(1765-1767)aTt>aCt	p.I589T	ABCA9_ENST00000370732.2_Missense_Mutation_p.I589T|ABCA9_ENST00000453985.2_Missense_Mutation_p.I589T	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	589	ABC transporter 1.				transport	integral to membrane	ATP binding|ATPase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATGTGGCAAAATCCCTTTTAT	0.353													G	67023806	A	G	67023806	3	3	747	1	0	0	0	0	1	0	0	0	39	101	4	3	3216	3	ABCA9	17	67023806	Missense_Mutation	SNP	A	TCGA-TM-A84F-01A-11D-A36O-08	29443749	67023806	14171404	21	56391											
EVPL	2125	broad.mit.edu	37	chr17	74003665	74003665	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgcacagagtagcgctcaCggctgagcaggtccacgatg	9	7	14	11	3	1	2	1	1	0	1	2	3	2	2	1	2	3	5	1	2	1	1			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr17:74003665C>T	ENST00000301607.3	-	22	5874	c.5621G>A	c.(5620-5622)cGt>cAt	p.R1874H	EVPL_ENST00000586740.1_Missense_Mutation_p.R1896H	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1874	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						GTAGCGCTCACGGCTGAGCAG	0.627													T	74003665	C	T	74003665	3	4	747	1	0	0	0	0	1	0	0	0	5333	536	19	1	484	1	EVPL	17	74003665	Missense_Mutation	SNP	C	TCGA-TM-A84F-01A-11D-A36O-08	6979859	74003665	7191545	22	56392											
ZNF792	126375	broad.mit.edu	37	chr19	35449165	35449165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttcgctgcactcataaggccGctcgccggtgtgaagtctcc	6	10	11	14	4	2	1	1	1	1	0	5	1	2	1	3	2	1	3	3	2	2	2			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr19:35449165G>A	ENST00000404801.1	-	4	1980	c.1594C>T	c.(1594-1596)Cgg>Tgg	p.R532W	ZNF792_ENST00000605484.1_Missense_Mutation_p.R465W	NM_175872.4	NP_787068.3	Q3KQV3	ZN792_HUMAN	zinc finger protein 792	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)	12	all_lung(56;4.18e-08)|Lung NSC(56;6.62e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TCATAAGGCCGCTCGCCGGTG	0.517													A	35449165	G	A	35449165	3	1	747	1	0	0	0	0	1	0	0	0	18263	1086	38	1	308	1	ZNF792	19	35449165	Missense_Mutation	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		35449165	23679818	23	56393											
MYH7B	57644	broad.mit.edu	37	chr20	33586196	33586196	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctggcggacgcaagcacGcagcgtgggcgactacagac	10	3	15	13	5	0	1	0	0	0	1	0	3	0	2	0	3	4	4	0	3	2	1			TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:33586196G>A	ENST00000262873.7	+	31	4064	c.3972G>A	c.(3970-3972)acG>acA	p.T1324T		NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	1282						membrane|myosin filament	actin binding|ATP binding|motor activity			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			ACGCAAGCACGCAGCGTGGGC	0.647													A	33586196	G	A	33586196	2	1	747	1	0	0	0	0	0	0	0	1	10116	1074	38	1		1	MYH7B	20	33586196	Silent	SNP	G	TCGA-TM-A84F-01A-11D-A36O-08		33586196	29439324	24	56394											
MYT1	4661	broad.mit.edu	37	chr20	62854706	62854707	+	Frame_Shift_Ins	INS	-	-	C																															atggctgcccactctgctgaINScctcaagtatgtttgcgctc																										TCGA-TM-A84F-01A-11D-A36O-08	TCGA-TM-A84F-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1a349181-af96-4b55-a643-2e29432c06cc	eb1db492-2bce-4a43-b8bd-3803b6552fd9	g.chr20:62854706_62854707insC	ENST00000536311.1	+	16	2967_2968	c.2603_2604insC	c.(2602-2607)gacctcfs	p.L869fs	MYT1_ENST00000328439.1_Frame_Shift_Ins_p.L842fs|MYT1_ENST00000360149.4_Intron			Q01538	MYT1_HUMAN	myelin transcription factor 1	842					cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					CACTCTGCTGACCTCAAGTATG	0.55													C	62854707	-	C	62854706	7	5	747	1	0	1	1	0	0	0	0	0	10182	275	10	0	2576	0	MYT1	20	62854706	Frame_Shift_Ins	INS	-	TCGA-TM-A84F-01A-11D-A36O-08	29268510	62854706	170814	25	56395											
FUBP1	8880	broad.mit.edu	37	chr1	78428491	78428491	+	Frame_Shift_Del	DEL	T	T	-																															atgagttgccgagcatagtcTatctgttgtggagtgccacg																										TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:78428491delT	ENST00000370767.1	-	14	1395	c.1308delA	c.(1306-1308)atafs	p.I436fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.I436fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.I457fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	436	KH 4.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						GAGCATAGTCTATCTGTTGTG	0.373			"F, N"		oligodendroglioma								-	78428491	T	-	78428491	7	5	748	1	0	1	0	1	0	0	0	0	6144	1512	53	0	654	0	FUBP1	1	78428491	Frame_Shift_Del	DEL	T	TCGA-TM-A84G-01A-11D-A36O-08		78428491	170822130	1	56396											
CELF3	11189	broad.mit.edu	37	chr1	151677561	151677561	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccgctttagctggacttTgaggcgcttcatgccgatct	6	12	12	11	3	2	1	1	1	1	0	2	3	2	2	2	3	2	3	2	3	1	4			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr1:151677561T>C	ENST00000290583.4	-	12	2147	c.1354A>G	c.(1354-1356)Aaa>Gaa	p.K452E	CELF3_ENST00000470688.1_5'UTR|RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.K402E|CELF3_ENST00000392706.3_Missense_Mutation_p.K247E	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	452	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						AGCTGGACTTTGAGGCGCTTC	0.627													C	151677561	T	C	151677561	3	2	748	1	0	0	0	0	1	0	0	0	3247	1821	63	3	47	3	CELF3	1	151677561	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08	73249070	151677561	97573060	2	56397											
ITSN2	50618	broad.mit.edu	37	chr2	24524110	24524111	+	Splice_Site	INS	-	-	A																															tcaatttgctttcctcctctINSaaaaaaatcaaacaacaaag																										TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:24524110_24524111insA	ENST00000355123.4	-	11	1439		c.e11-2		ITSN2_ENST00000361999.3_Splice_Site|ITSN2_ENST00000406921.3_Splice_Site	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2						endocytosis|regulation of Rho protein signal transduction	cytoplasm	calcium ion binding|Rho guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTTCCTCCTCTAAAAAAATCAA	0.366													A	24524111	-	A	24524110	8	5	748	1	0	1	1	0	0	0	1	0	7985	1536	53	0	4270	0	ITSN2	2	24524110	Splice_Site	INS	-	TCGA-TM-A84G-01A-11D-A36O-08		24524110	218675263	3	56398											
USP39	10713	broad.mit.edu	37	chr2	85852729	85852729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caagcaagccaaattgtcccGggcatatgatggtaccactt	12	9	9	11	1	0	1	0	1	0	0	1	1	1	1	3	2	3	3	3	2	5	4			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:85852729G>A	ENST00000323701.6	+	5	648	c.638G>A	c.(637-639)cGg>cAg	p.R213Q	USP39_ENST00000409766.3_Missense_Mutation_p.R213Q|USP39_ENST00000450066.2_Missense_Mutation_p.R110Q|USP39_ENST00000409470.1_Missense_Mutation_p.R213Q|USP39_ENST00000459775.1_3'UTR|USP39_ENST00000409025.1_Missense_Mutation_p.R213Q	NM_006590.3	NP_006581.2	Q53GS9	SNUT2_HUMAN	ubiquitin specific peptidase 39	213					spliceosome assembly|ubiquitin-dependent protein catabolic process	nucleus	protein binding|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	19						AAATTGTCCCGGGCATATGAT	0.433													A	85852729	G	A	85852729	3	1	748	1	0	0	0	0	1	0	0	0	17172	1116	39	1	656	1	USP39	2	85852729	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	61328619	85852729	157346644	4	56399											
IL18RAP	8807	broad.mit.edu	37	chr2	103063658	103063658	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaccagagcaaggatcagAcgcttgggggtaagtttacc	11	8	12	10	1	1	2	1	0	0	2	1	3	1	3	3	3	3	4	3	3	4	5			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:103063658A>G	ENST00000264260.2	+	10	1790	c.1201A>G	c.(1201-1203)Acg>Gcg	p.T401A	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T259A	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	401					cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CAAGGATCAGACGCTTGGGGG	0.557													G	103063658	A	G	103063658	3	3	748	1	0	0	0	0	1	0	0	0	7706	275	10	3	1231	3	IL18RAP	2	103063658	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	17210929	103063658	140135715	5	56400											
POTEE	445582	broad.mit.edu	37	chr2	131984464	131984465	+	Frame_Shift_Ins	INS	-	-	A																															tcgtgaaatttttaatcaagINSaaaaaagcgaatttaaatgc																										TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:131984464_131984465insA	ENST00000356920.5	+	4	973_974	c.879_880insA	c.(880-882)aaafs	p.K294fs	PLEKHB2_ENST00000303908.3_Intron|POTEE_ENST00000358087.5_Frame_Shift_Ins_p.K304fs|PLEKHB2_ENST00000404460.1_Intron	NM_001083538.1	NP_001077007.1	Q6S8J3	POTEE_HUMAN	POTE ankyrin domain family, member E	294							ATP binding										TTTTAATCAAGAAAAAAGCGAA	0.342													A	131984465	-	A	131984464	7	5	748	1	0	1	1	0	0	0	0	0	12341	933	33	0	893	0	POTEE	2	131984464	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08	28920806	131984464	111214909	6	56401											
CCDC150	284992	broad.mit.edu	37	chr2	197521413	197521413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagccagaaagtcattaGtcctatccaaaatgaagcaa	17	7	8	9	0	1	2	1	1	0	1	3	3	3	3	3	1	2	1	3	1	7	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:197521413G>A	ENST00000389175.4	+	3	368	c.233G>A	c.(232-234)aGt>aAt	p.S78N	CCDC150_ENST00000423093.2_Intron|CCDC150_ENST00000272831.7_Intron|CCDC150_ENST00000472405.2_5'UTR	NM_001080539.1	NP_001074008.1	Q8NCX0	CC150_HUMAN	coiled-coil domain containing 150	78										breast(3)|endometrium(6)|kidney(1)|large_intestine(6)|lung(14)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	33						AAAGTCATTAGTCCTATCCAA	0.388													A	197521413	G	A	197521413	3	1	748	1	0	0	0	0	1	0	0	0	2811	1029	36	2	243	2	CCDC150	2	197521413	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	65536949	197521413	45677960	7	56402											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	748	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	11591699	209113112	34086261	8	56403											
PRICKLE2	166336	broad.mit.edu	37	chr3	64148708	64148708	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttacctcattgtcatgtggcGgcagctggtgtagtagctgc	6	13	13	9	1	2	0	2	0	0	0	2	0	2	0	1	3	4	5	1	3	3	4			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr3:64148708G>A	ENST00000295902.6	-	3	827	c.242C>T	c.(241-243)cCg>cTg	p.P81L	PRICKLE2_ENST00000564377.1_Missense_Mutation_p.P137L	NM_198859.3	NP_942559.1	Q7Z3G6	PRIC2_HUMAN	prickle homolog 2 (Drosophila)	81	PET.					cytoplasm|nuclear membrane	zinc ion binding			breast(2)|endometrium(1)|large_intestine(9)|liver(1)|lung(10)|ovary(4)|prostate(2)|skin(2)|stomach(1)	32		Lung NSC(201;0.136)		BRCA - Breast invasive adenocarcinoma(55;0.000971)|KIRC - Kidney renal clear cell carcinoma(15;0.00443)|Kidney(15;0.00497)		GTCATGTGGCGGCAGCTGGTG	0.463													A	64148708	G	A	64148708	3	1	748	1	0	0	0	0	1	0	0	0	12573	1116	39	1	2316	1	PRICKLE2	3	64148708	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		64148708	133873722	9	56404											
CENPE	1062	broad.mit.edu	37	chr4	104061011	104061013	+	In_Frame_Del	DEL	TCC	TCC	-																															cattttgagagattcttttaTcctccttagctcatctcttt																										TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:104061011_104061013delTCC	ENST00000265148.3	-	38	6226_6228	c.6137_6139delGGA	c.(6136-6141)aggata>ata	p.R2046del	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	2046					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATTCTTTTATCCTCCTTAGCTC	0.36													-	104061013	TCC	-	104061011	7	5	748	1	0	1	0	1	0	0	0	0	3260	1435	50	0	2014	0	CENPE	4	104061011	In_Frame_Del	DEL	TCC	TCGA-TM-A84G-01A-11D-A36O-08		104061011	87093265	10	56405											
EGF	1950	broad.mit.edu	37	chr4	110932525	110932525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agacccttgaagggggtgtcGagaagccccattctctccta	9	9	11	12	1	1	3	0	1	1	2	4	4	2	3	4	2	1	0	4	2	3	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr4:110932525G>A	ENST00000265171.5	+	24	3983	c.3538G>A	c.(3538-3540)Gag>Aag	p.E1180K	EGF_ENST00000509793.1_Missense_Mutation_p.E1138K|EGF_ENST00000503392.1_Missense_Mutation_p.E1139K	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1180					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AGGGGGTGTCGAGAAGCCCCA	0.512													A	110932525	G	A	110932525	3	1	748	1	0	0	0	0	1	0	0	0	5001	1059	37	1	3632	1	EGF	4	110932525	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	6871514	110932525	80221751	11	56406											
CDH18	1016	broad.mit.edu	37	chr5	19520806	19520806	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacatacaataatatcatatTccctggcaagttcgggtgga	13	11	8	9	1	1	0	1	0	0	0	3	1	2	1	1	3	1	2	1	3	6	6			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr5:19520806T>C	ENST00000507958.1	-	12	2462	c.1472A>G	c.(1471-1473)gAa>gGa	p.E491G	CDH18_ENST00000274170.4_Missense_Mutation_p.E491G|CDH18_ENST00000382275.1_Missense_Mutation_p.E491G|CDH18_ENST00000502796.1_Missense_Mutation_p.E491G|CDH18_ENST00000506372.1_Missense_Mutation_p.E491G|CDH18_ENST00000511273.1_Missense_Mutation_p.E491G			Q13634	CAD18_HUMAN	cadherin 18, type 2	491	Cadherin 5.				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					AATATCATATTCCCTGGCAAG	0.388													C	19520806	T	C	19520806	3	2	748	1	0	0	0	0	1	0	0	0	3133	1783	62	3	916	3	CDH18	5	19520806	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08		19520806	161394454	12	56407											
UHRF1BP1	54887	broad.mit.edu	37	chr6	34825143	34825143	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccaagtaaaaagccatctaCactcctttcctgcagtcgga	12	9	7	13	1	1	0	0	0	1	0	4	1	3	1	4	1	3	2	4	1	5	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:34825143C>T	ENST00000192788.5	+	12	1640	c.1469C>T	c.(1468-1470)aCa>aTa	p.T490I	UHRF1BP1_ENST00000452449.2_Missense_Mutation_p.T490I	NM_017754.3	NP_060224.3	Q6BDS2	URFB1_HUMAN	UHRF1 binding protein 1	490										breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|lung(24)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	54						AAGCCATCTACACTCCTTTCC	0.438													T	34825143	C	T	34825143	3	4	748	1	0	0	0	0	1	0	0	0	17070	478	17	2	1515	2	UHRF1BP1	6	34825143	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		34825143	136289924	13	56408											
TPBG	7162	broad.mit.edu	37	chr6	83075811	83075811	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctggttttgtatttgaaccGcaaggggataaaaaagtgga	13	11	12	5	1	0	1	0	1	0	0	0	3	0	3	2	4	1	3	2	4	6	5			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:83075811G>A	ENST00000369750.3	+	2	1750	c.1133G>A	c.(1132-1134)cGc>cAc	p.R378H	TPBG_ENST00000535040.1_Missense_Mutation_p.R378H|TPBG_ENST00000543496.1_Missense_Mutation_p.R378H			Q13641	TPBG_HUMAN	trophoblast glycoprotein	378					cell adhesion	integral to plasma membrane				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	15		all_cancers(76;0.000805)|Acute lymphoblastic leukemia(125;3.85e-06)|all_hematologic(105;0.0017)|all_epithelial(107;0.0897)		BRCA - Breast invasive adenocarcinoma(397;0.107)		TATTTGAACCGCAAGGGGATA	0.453													A	83075811	G	A	83075811	3	1	748	1	0	0	0	0	1	0	0	0	16495	1087	38	1	1135	1	TPBG	6	83075811	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	48250668	83075811	88039256	14	56409											
GOPC	57120	broad.mit.edu	37	chr6	117892068	117892068	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttccttaaggaggagAacttttctaattggaccaac	12	13	8	8	0	2	2	0	1	2	1	3	5	3	4	2	3	2	0	2	3	4	6			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr6:117892068A>T	ENST00000535237.1	-	6	1096	c.867T>A	c.(865-867)gtT>gtA	p.V289V	GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000052569.6_Silent_p.V281V|GOPC_ENST00000368498.2_Silent_p.V289V					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		TAAGGAGGAGAACTTTTCTAA	0.343			O	ROS1	glioblastoma								T	117892068	A	T	117892068	2	4	748	1	0	0	0	0	0	0	0	1	6626	233	9	5		5	GOPC	6	117892068	Silent	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	34816257	117892068	53222999	15	56410											
TG	7038	broad.mit.edu	37	chr8	133911126	133911126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cccaagaaaacccatctccaAaagacctgttcgtcccagcc	13	6	5	17	1	1	2	0	0	1	2	4	2	2	2	6	0	2	1	6	0	5	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr8:133911126A>G	ENST00000220616.4	+	14	3341	c.3301A>G	c.(3301-3303)Aaa>Gaa	p.K1101E	TG_ENST00000377869.1_Missense_Mutation_p.K1101E	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	1101	Thyroglobulin type-1 9.				hormone biosynthetic process|signal transduction|thyroid gland development|thyroid hormone generation	extracellular space	hormone activity			NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		CCCATCTCCAAAAGACCTGTT	0.527													G	133911126	A	G	133911126	3	3	748	1	0	0	0	0	1	0	0	0	15913	15	1	3	3355	3	TG	8	133911126	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		133911126	12452896	16	56411											
NOTCH1	4851	broad.mit.edu	37	chr9	139401808	139401808	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgttggggaggtcgaggcAggtgcccccgttctggcagg	4	8	20	9	2	1	0	0	0	1	0	2	2	1	1	2	8	1	4	2	8	0	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr9:139401808A>T	ENST00000277541.6	-	22	3667	c.3592T>A	c.(3592-3594)Tgc>Agc	p.C1198S		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1198	EGF-like 31; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGGTCGAGGCAGGTGCCCCCG	0.672			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			T	139401808	A	T	139401808	3	4	748	1	0	0	0	0	1	0	0	0	10623	188	7	5	4127	5	NOTCH1	9	139401808	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		139401808	1811623	17	56412											
PTCHD3	374308	broad.mit.edu	37	chr10	27688135	27688135	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggttggtcttatgccaggcAgaaatcatgataaacatgtc	13	11	10	7	0	2	2	1	1	1	1	3	2	2	2	1	3	2	2	1	3	4	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr10:27688135A>G	ENST00000438700.3	-	4	1509	c.1392T>C	c.(1390-1392)tcT>tcC	p.S464S		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	464	SSD.				spermatid development	integral to membrane	hedgehog receptor activity			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						TATGCCAGGCAGAAATCATGA	0.368													G	27688135	A	G	27688135	2	3	748	1	0	0	0	0	0	0	0	1	12819	175	7	3		3	PTCHD3	10	27688135	Silent	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08		27688135	107846612	18	56413											
SHANK2	22941	broad.mit.edu	37	chr11	70507707	70507707	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gcggctgctcttacctttggCccctcgaagcacgaatccaa	8	9	9	15	3	1	0	0	0	1	0	3	2	2	0	4	2	3	3	4	2	4	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr11:70507707C>T	ENST00000338508.4	-	22	1932	c.1933G>A	c.(1933-1935)Gcc>Acc	p.A645T	SHANK2_ENST00000409530.1_Missense_Mutation_p.A55T|SHANK2_ENST00000449833.2_Missense_Mutation_p.A56T|SHANK2_ENST00000423696.2_Missense_Mutation_p.A265T|SHANK2_ENST00000409161.1_Missense_Mutation_p.A55T|SHANK2_ENST00000357171.3_Missense_Mutation_p.A56T|SHANK2_ENST00000449116.2_Missense_Mutation_p.A56T			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	265					intracellular signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	GKAP/Homer scaffold activity|ionotropic glutamate receptor binding|SH3 domain binding			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			TTACCTTTGGCCCCTCGAAGC	0.502													T	70507707	C	T	70507707	3	4	748	1	0	0	0	0	1	0	0	0	14359	739	26	2	3663	2	SHANK2	11	70507707	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		70507707	64498809	19	56414											
A2ML1	144568	broad.mit.edu	37	chr12	9020559	9020559	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gcgcacattcaacatacagtCagttaacagattggtatttc	13	12	7	9	1	2	1	2	0	0	1	3	1	2	1	0	1	3	3	0	1	4	6			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:9020559C>T	ENST00000299698.7	+	30	4019	c.3839C>T	c.(3838-3840)tCa>tTa	p.S1280L	A2ML1_ENST00000539547.1_Missense_Mutation_p.S789L	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	1124						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						AACATACAGTCAGTTAACAGA	0.488													T	9020559	C	T	9020559	3	4	748	1	0	0	0	0	1	0	0	0	5	838	29	2	3957	2	A2ML1	12	9020559	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		9020559	124831336	20	56415											
PRICKLE1	144165	broad.mit.edu	37	chr12	42860025	42860025	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccacaggtttcacagtacTccgcatagagagactcaaaa	14	7	7	13	1	2	2	2	0	0	2	3	3	3	2	3	1	1	3	3	1	4	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:42860025T>C	ENST00000455697.1	-	6	1031	c.746A>G	c.(745-747)gAg>gGg	p.E249G	PRICKLE1_ENST00000548696.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000552240.1_Missense_Mutation_p.E249G|PRICKLE1_ENST00000345127.3_Missense_Mutation_p.E249G|PRICKLE1_ENST00000445766.2_Missense_Mutation_p.E249G	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	249	LIM zinc-binding 2.|LIM zinc-binding 3.				negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		TTCACAGTACTCCGCATAGAG	0.512													C	42860025	T	C	42860025	3	2	748	1	0	0	0	0	1	0	0	0	12572	1551	54	3	1761	3	PRICKLE1	12	42860025	Missense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08	33839466	42860025	90991870	21	56416											
OR10AD1	121275	broad.mit.edu	37	chr12	48596567	48596567	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tttctatgtggttgtctctgCggaagggctctcggaatgaa	7	14	13	7	2	3	1	0	1	3	0	5	3	3	3	0	4	1	2	0	4	4	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr12:48596567C>T	ENST00000310248.2	-	1	603	c.509G>A	c.(508-510)cGc>cAc	p.R170H		NM_001004134.1	NP_001004134.1	Q8NGE0	O10AD_HUMAN	olfactory receptor, family 10, subfamily AD, member 1	170					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|stomach(1)|urinary_tract(1)	9						GTTGTCTCTGCGGAAGGGCTC	0.502													T	48596567	C	T	48596567	3	4	748	1	0	0	0	0	1	0	0	0	10972	768	27	1	448	1	OR10AD1	12	48596567	Missense_Mutation	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	5736542	48596567	85255328	22	56417											
RXFP2	122042	broad.mit.edu	37	chr13	32367130	32367131	+	Frame_Shift_Ins	INS	-	-	A																															tggaataaggattattttggINSaaacttttatgggaaaaatg																										TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr13:32367130_32367131insA	ENST00000298386.2	+	16	1762_1763	c.1691_1692insA	c.(1690-1695)ggaaacfs	p.N565fs	RXFP2_ENST00000380314.1_Frame_Shift_Ins_p.N541fs	NM_130806.3	NP_570718.1	Q8WXD0	RXFP2_HUMAN	relaxin/insulin-like family peptide receptor 2	565						integral to membrane|plasma membrane				cervix(1)|endometrium(2)|large_intestine(15)|lung(13)|prostate(1)|stomach(1)	33		Lung SC(185;0.0262)		all cancers(112;0.000559)|Epithelial(112;0.0017)|OV - Ovarian serous cystadenocarcinoma(117;0.0145)|BRCA - Breast invasive adenocarcinoma(63;0.0535)		GATTATTTTGGAAACTTTTATG	0.366													A	32367131	-	A	32367130	7	5	748	1	0	1	1	0	0	0	0	0	13851	1174	41	0	1753	0	RXFP2	13	32367130	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08		32367130	82802748	23	56418											
LRRK1	79705	broad.mit.edu	37	chr15	101589864	101589864	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagtgtggaatcttccgaCgtgaactggaaaaagaagaa	15	8	12	6	2	1	3	0	1	1	2	2	6	2	5	1	2	2	1	1	2	6	1			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr15:101589864C>T	ENST00000284395.5	+	24	3706	c.3306C>T	c.(3304-3306)gaC>gaT	p.D1102D	LRRK1_ENST00000388948.3_Silent_p.D1105D			Q38SD2	LRRK1_HUMAN	leucine-rich repeat kinase 1	1105					small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			AATCTTCCGACGTGAACTGGA	0.507													T	101589864	C	T	101589864	2	4	748	1	0	0	0	0	0	0	0	1	9102	535	19	1		1	LRRK1	15	101589864	Silent	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08		101589864	941528	24	56419											
CACNA1H	8912	broad.mit.edu	37	chr16	1270872	1270872	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatcagagcctcccatgcccGtcggtgaccccccagagaag	10	5	10	16	2	1	3	1	1	0	2	3	4	2	3	6	1	2	0	6	1	2	0			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1270872G>A	ENST00000348261.5	+	35	7188	c.6940G>A	c.(6940-6942)Gtc>Atc	p.V2314I	CACNA1H_ENST00000565831.1_Missense_Mutation_p.V2308I|CACNA1H_ENST00000358590.4_Missense_Mutation_p.V2308I	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	2314					aldosterone biosynthetic process|axon guidance|cellular response to hormone stimulus|cellular response to potassium ion|cortisol biosynthetic process|muscle contraction|myoblast fusion|positive regulation of acrosome reaction|regulation of heart contraction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Flunarizine(DB04841)|Mibefradil(DB01388)	TCCCATGCCCGTCGGTGACCC	0.642													A	1270872	G	A	1270872	3	1	748	1	0	0	0	0	1	0	0	0	2571	1145	40	1	7074	1	CACNA1H	16	1270872	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		1270872	89083881	25	56420											
PTX4	390667	broad.mit.edu	37	chr16	1536429	1536429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcattgtcctcggtggcGtaggacaggagggtgcccag	6	10	16	9	2	1	0	1	0	0	0	3	2	2	2	2	5	1	1	2	5	1	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:1536429G>A	ENST00000440447.2	-	3	574	c.503C>T	c.(502-504)aCg>aTg	p.T168M	PTX4_ENST00000293922.1_Silent_p.Y311Y|PTX4_ENST00000447419.2_Silent_p.Y316Y			Q96A99	PTX4_HUMAN	pentraxin 4, long	0						extracellular region	metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	17						CCTCGGTGGCGTAGGACAGGA	0.667													A	1536429	G	A	1536429	3	1	748	1	0	0	0	0	1	0	0	0	12911	1140	40	1	491	1	PTX4	16	1536429	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	265557	1536429	88818324	26	56421											
ATXN2L	11273	broad.mit.edu	37	chr16	28834658	28834659	+	Frame_Shift_Ins	INS	-	-	C																															aacaggccgtggcccgtcggINSccccccgggggcaccagccc																										TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:28834658_28834659insC	ENST00000336783.4	+	1	245_246	c.78_79insC	c.(79-81)cccfs	p.P27fs	ATXN2L_ENST00000325215.6_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000382686.4_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000395547.2_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000564304.1_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000570200.1_Frame_Shift_Ins_p.P27fs|ATXN2L_ENST00000340394.8_Frame_Shift_Ins_p.P27fs	NM_007245.3	NP_009176.2	Q8WWM7	ATX2L_HUMAN	ataxin 2-like	27	Pro-rich.					membrane				breast(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	36						TGGCCCGTCGGCCCCCCGGGGG	0.762													C	28834659	-	C	28834658	7	5	748	1	0	1	1	0	0	0	0	0	1217	1190	42	0	80	0	ATXN2L	16	28834658	Frame_Shift_Ins	INS	-	TCGA-TM-A84G-01A-11D-A36O-08	27298229	28834658	61520095	27	56422											
IRF8	3394	broad.mit.edu	37	chr16	85942758	85942758	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacaaagtttaccgaattGttcctgaggaagagcaaaaa	17	9	8	7	1	0	2	0	1	0	1	1	4	1	3	2	1	3	3	2	1	7	5			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr16:85942758G>T	ENST00000268638.5	+	3	759	c.337G>T	c.(337-339)Gtt>Ttt	p.V113F	IRF8_ENST00000563180.1_Missense_Mutation_p.V113F	NM_002163.2	NP_002154.1	Q02556	IRF8_HUMAN	interferon regulatory factor 8	113					interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	nucleus	DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity			breast(2)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|urinary_tract(1)	24		Prostate(104;0.0771)				TTACCGAATTGTTCCTGAGGA	0.493													T	85942758	G	T	85942758	3	4	748	1	0	0	0	0	1	0	0	0	7894	1377	48	4	343	4	IRF8	16	85942758	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	57108100	85942758	4411995	28	56423											
HSD11B1L	374875	broad.mit.edu	37	chr19	5687962	5687962	+	Frame_Shift_Del	DEL	G	G	-																															gccgcggcagcctgagcaccGgggggtgcccctccagtccc																										TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr19:5687962delG	ENST00000577917.1	+	6	982	c.461delG	c.(460-462)cggfs	p.R154fs	HSD11B1L_ENST00000423665.2_Frame_Shift_Del_p.R235fs|HSD11B1L_ENST00000411793.2_Frame_Shift_Del_p.R101fs|RPL36_ENST00000579649.1_Intron|HSD11B1L_ENST00000342970.2_3'UTR|RPL36_ENST00000582380.2_Intron|RPL36_ENST00000577222.1_Intron|HSD11B1L_ENST00000301382.4_3'UTR|HSD11B1L_ENST00000339423.2_3'UTR|HSD11B1L_ENST00000581773.1_3'UTR|HSD11B1L_ENST00000581521.1_3'UTR|HSD11B1L_ENST00000583928.1_3'UTR|HSD11B1L_ENST00000581893.1_3'UTR	NM_001267871.1|NM_198705.2|NM_198708.2	NP_001254800.1|NP_941994.1|NP_941997.1	Q7Z5J1	DHI1L_HUMAN	hydroxysteroid (11-beta) dehydrogenase 1-like	235						extracellular region	binding|oxidoreductase activity										CCTGAGCACCGGGGGGTGCCC	0.682													-	5687962	G	-	5687962	7	5	748	1	0	1	0	1	0	0	0	0	7431	1116	39	0	893	0	HSD11B1L	19	5687962	Frame_Shift_Del	DEL	G	TCGA-TM-A84G-01A-11D-A36O-08		5687962	53441021	29	56424											
SPTLC3	55304	broad.mit.edu	37	chr20	13071766	13071766	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaaggagttggaggaccttGtggctaagttcctgaatgtg	10	11	14	6	0	0	1	0	1	0	0	1	4	1	4	2	4	0	3	2	4	3	4			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13071766G>T	ENST00000399002.2	+	5	917	c.643G>T	c.(643-645)Gtg>Ttg	p.V215L	SPTLC3_ENST00000378194.4_Missense_Mutation_p.V215L	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	215					sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25					Pyridoxal Phosphate(DB00114)	GGAGGACCTTGTGGCTAAGTT	0.428													T	13071766	G	T	13071766	3	4	748	1	0	0	0	0	1	0	0	0	15221	1377	48	4	661	4	SPTLC3	20	13071766	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		13071766	49953754	30	56425											
ISM1	140862	broad.mit.edu	37	chr20	13260457	13260457	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacgacagtacctcagaCgacagcaacttcctcaaccc	14	6	6	15	2	2	1	2	0	0	1	3	3	3	1	3	0	5	3	3	0	5	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr20:13260457C>T	ENST00000262487.4	+	3	561	c.555C>T	c.(553-555)gaC>gaT	p.D185D	TASP1_ENST00000539805.1_Intron	NM_080826.1	NP_543016.1	B1AKI9	ISM1_HUMAN	isthmin 1, angiogenesis inhibitor							extracellular region				NS(1)|autonomic_ganglia(1)|endometrium(1)|large_intestine(8)|lung(5)|urinary_tract(1)	17						GTACCTCAGACGACAGCAACT	0.597													T	13260457	C	T	13260457	2	4	748	1	0	0	0	0	0	0	0	1	7918	535	19	1		1	ISM1	20	13260457	Silent	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	188691	13260457	49765063	31	56426											
ICOSLG	23308	broad.mit.edu	37	chr21	45651187	45651187	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atagctgtgttggaggcatcGgtccctgcacacccagccta	8	9	11	13	1	0	0	0	0	0	0	2	1	1	1	3	3	3	4	3	3	2	3			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chr21:45651187G>A	ENST00000407780.3	-	5	965	c.838C>T	c.(838-840)Cga>Tga	p.R280*	ICOSLG_ENST00000400377.3_Nonsense_Mutation_p.R163*|ICOSLG_ENST00000344330.4_Nonsense_Mutation_p.R280*|ICOSLG_ENST00000400379.3_Nonsense_Mutation_p.R280*	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	280					B cell activation|defense response|hyperosmotic response|positive regulation of activated T cell proliferation|signal transduction|T cell activation|T cell costimulation		receptor binding			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TGGAGGCATCGGTCCCTGCAC	0.562													A	45651187	G	A	45651187	4	1	748	1	0	0	0	0	0	1	0	0	7545	1124	39	1	82	1	ICOSLG	21	45651187	Nonsense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08		45651187	2478708	32	56427											
SYAP1	94056	broad.mit.edu	37	chrX	16773205	16773205	+	Nonsense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatggcagagagcaagattTgccgctggcaggtatattct	11	10	12	8	1	1	2	0	0	1	2	1	3	1	2	1	3	2	5	1	3	4	4			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:16773205T>A	ENST00000380155.3	+	6	806	c.713T>A	c.(712-714)tTg>tAg	p.L238*		NM_032796.3	NP_116185.2	Q96A49	SYAP1_HUMAN	synapse associated protein 1	238										endometrium(3)|lung(4)|pancreas(1)|prostate(1)|skin(1)	10	Hepatocellular(33;0.0997)					GAGCAAGATTTGCCGCTGGCA	0.517													A	16773205	T	A	16773205	4	1	748	1	0	0	0	0	0	1	0	0	15522	1821	63	5	735	5	SYAP1	23	16773205	Nonsense_Mutation	SNP	T	TCGA-TM-A84G-01A-11D-A36O-08		16773205	138497355	33	56428											
MAGEB6	158809	broad.mit.edu	37	chrX	26212856	26212856	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctggttgtgatcttcatgaAcggcaactgtgccactgaag	9	11	11	10	1	2	3	1	3	1	0	2	3	2	3	2	2	3	2	2	2	3	2			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:26212856A>T	ENST00000379034.1	+	2	1042	c.893A>T	c.(892-894)aAc>aTc	p.N298I		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	298	MAGE.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						ATCTTCATGAACGGCAACTGT	0.532													T	26212856	A	T	26212856	3	4	748	1	0	0	0	0	1	0	0	0	9254	43	2	5	895	5	MAGEB6	23	26212856	Missense_Mutation	SNP	A	TCGA-TM-A84G-01A-11D-A36O-08	9439651	26212856	129057704	34	56429											
WNK3	65267	broad.mit.edu	37	chrX	54275530	54275530	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tagtgggttgaagggtagttGgttcaaggccaggggtctga	8	11	18	4	0	2	2	1	2	1	0	2	2	2	2	1	6	0	4	1	6	4	5			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:54275530G>T	ENST00000354646.2	-	17	3689	c.3251C>A	c.(3250-3252)cCa>cAa	p.P1084Q	WNK3_ENST00000375159.2_Missense_Mutation_p.P1084Q|WNK3_ENST00000375169.3_Missense_Mutation_p.P1084Q	NM_020922.4	NP_065973.2	Q9BYP7	WNK3_HUMAN	WNK lysine deficient protein kinase 3	1084					intracellular protein kinase cascade|positive regulation of establishment of protein localization in plasma membrane|positive regulation of peptidyl-threonine phosphorylation|positive regulation of rubidium ion transmembrane transporter activity|positive regulation of rubidium ion transport|positive regulation of sodium ion transmembrane transporter activity|positive regulation of sodium ion transport|protein autophosphorylation	adherens junction|tight junction	ATP binding|protein binding|protein serine/threonine kinase activity|rubidium ion transmembrane transporter activity|sodium ion transmembrane transporter activity			autonomic_ganglia(1)|biliary_tract(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(24)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80						AAGGGTAGTTGGTTCAAGGCC	0.433													T	54275530	G	T	54275530	3	4	748	1	0	0	0	0	1	0	0	0	17481	1348	47	4	2183	4	WNK3	23	54275530	Missense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	28062674	54275530	100995030	35	56430											
IL13RA1	3597	broad.mit.edu	37	chrX	117895252	117895252	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagacacataatgttttctaCgtaaggttttaaaattattg	14	16	7	4	1	1	1	0	0	1	1	1	2	1	1	0	1	1	3	0	1	6	9			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:117895252C>T	ENST00000371666.3	+	6	895	c.828C>T	c.(826-828)taC>taT	p.Y276Y	IL13RA1_ENST00000371642.1_Silent_p.Y276Y|IL13RA1_ENST00000481868.1_3'UTR	NM_001560.2	NP_001551.1	P78552	I13R1_HUMAN	interleukin 13 receptor, alpha 1	276						interleukin-13 receptor complex	cytokine receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)	12						ATGTTTTCTACGTAAGGTTTT	0.289													T	117895252	C	T	117895252	5	4	748	1	0	0	0	0	0	0	1	0	7687	550	19	1	850	1	IL13RA1	23	117895252	Splice_Site	SNP	C	TCGA-TM-A84G-01A-11D-A36O-08	63619722	117895252	37375308	36	56431											
MAP7D3	79649	broad.mit.edu	37	chrX	135312700	135312700	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaaagaagtctgtggtgactGttttgaaataagtggtaatg	14	13	12	2	0	1	3	0	2	1	1	1	3	1	3	0	2	0	2	0	2	6	4			TCGA-TM-A84G-01A-11D-A36O-08	TCGA-TM-A84G-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	31f23d3a-3c7b-4db9-9048-ab061255cb7f	d2e98258-f98c-4259-bcdb-6d332a2f803e	g.chrX:135312700G>A	ENST00000316077.9	-	10	1814	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	MAP7D3_ENST00000370661.1_Nonsense_Mutation_p.Q497*|MAP7D3_ENST00000370663.5_Nonsense_Mutation_p.Q514*	NM_024597.3	NP_078873.2	Q8IWC1	MA7D3_HUMAN	MAP7 domain containing 3	532						cytoplasm|spindle				central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(1)	44	Acute lymphoblastic leukemia(192;0.000127)					TGTGGTGACTGTTTTGAAATA	0.348													A	135312700	G	A	135312700	4	1	748	1	0	0	0	0	0	1	0	0	9344	1386	48	2	1072	2	MAP7D3	23	135312700	Nonsense_Mutation	SNP	G	TCGA-TM-A84G-01A-11D-A36O-08	17417448	135312700	19957860	37	56432											
PRAMEF1	65121	broad.mit.edu	37	chr1	12855741	12855741	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcatcagtcttgaacccctcGgagctctgctggagaaaatt	10	10	10	11	1	3	2	1	1	2	1	4	4	3	3	2	2	3	3	2	2	3	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:12855741G>A	ENST00000332296.7	+	4	1124	c.1021G>A	c.(1021-1023)Gga>Aga	p.G341R	PRAMEF1_ENST00000400814.3_Missense_Mutation_p.G96R	NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	341										cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		TGAACCCCTCGGAGCTCTGCT	0.532													A	12855741	G	A	12855741	3	1	749	1	0	0	0	0	1	0	0	0	12507	1117	39	1	1031	1	PRAMEF1	1	12855741	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		12855741	236394880	1	56433											
WDR63	126820	broad.mit.edu	37	chr1	85559315	85559315	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgattacctgtgtctcatgGcatccaactatctatggtga	10	14	8	9	0	2	2	1	2	2	0	4	2	3	2	2	2	2	1	2	2	4	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:85559315G>C	ENST00000294664.6	+	9	1212	c.1032G>C	c.(1030-1032)tgG>tgC	p.W344C	WDR63_ENST00000370596.1_Missense_Mutation_p.W305C|WDR63_ENST00000326813.8_Missense_Mutation_p.W305C	NM_145172.3	NP_660155.2	Q8IWG1	WDR63_HUMAN	WD repeat domain 63	344										NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(2)|skin(2)|upper_aerodigestive_tract(3)	36				all cancers(265;0.00391)|Epithelial(280;0.00922)|Colorectal(170;0.166)		GTGTCTCATGGCATCCAACTA	0.423													C	85559315	G	C	85559315	3	2	749	1	0	0	0	0	1	0	0	0	17416	1212	42	4	1062	4	WDR63	1	85559315	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	72703574	85559315	163691306	2	56434											
FLG	2312	broad.mit.edu	37	chr1	152281630	152281630	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactggatccctggttcctgCttgtcctgggccctgatgat	4	13	11	13	0	0	2	0	2	0	0	3	3	3	3	4	3	1	2	4	3	0	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:152281630C>A	ENST00000368799.1	-	3	5767	c.5732G>T	c.(5731-5733)aGc>aTc	p.S1911I	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	1911	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CTGGTTCCTGCTTGTCCTGGG	0.582									Ichthyosis				A	152281630	C	A	152281630	3	1	749	1	0	0	0	0	1	0	0	0	5971	797	28	4	6457	4	FLG	1	152281630	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	66722315	152281630	96968991	3	56435											
SELE	6401	broad.mit.edu	37	chr1	169698443	169698443	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggatgatttgaaggtgAactctccagcaggggaatgg	11	9	15	6	0	1	3	0	3	1	0	2	5	1	5	1	5	3	2	1	5	3	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:169698443A>G	ENST00000333360.7	-	7	1113	c.974T>C	c.(973-975)tTc>tCc	p.F325S	SELE_ENST00000367780.4_Missense_Mutation_p.F263S|SELE_ENST00000367781.4_Missense_Mutation_p.F325S|SELE_ENST00000367775.1_Missense_Mutation_p.F263S|SELE_ENST00000367779.4_Missense_Mutation_p.F325S|SELE_ENST00000367777.1_Missense_Mutation_p.F325S|SELE_ENST00000367776.1_Missense_Mutation_p.F325S|SELE_ENST00000367774.1_Missense_Mutation_p.F325S|SELE_ENST00000367782.4_Missense_Mutation_p.F325S|C1orf112_ENST00000498289.1_Intron	NM_000450.2	NP_000441.2	P16581	LYAM2_HUMAN	selectin E	325	Sushi 3.				actin filament-based process|activation of phospholipase C activity|calcium-mediated signaling|heterophilic cell-cell adhesion|leukocyte migration involved in inflammatory response|leukocyte tethering or rolling|positive regulation of receptor internalization|regulation of inflammatory response|response to interleukin-1|response to lipopolysaccharide|response to tumor necrosis factor	caveola|coated pit|cortical cytoskeleton|extracellular space|integral to membrane|perinuclear region of cytoplasm	oligosaccharide binding|phospholipase binding|sialic acid binding|transmembrane receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|ovary(3)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	32	all_hematologic(923;0.208)					TTTGAAGGTGAACTCTCCAGC	0.527													G	169698443	A	G	169698443	3	3	749	1	0	0	0	0	1	0	0	0	14106	246	9	3	886	3	SELE	1	169698443	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	17416813	169698443	79552178	4	56436											
FMO4	2329	broad.mit.edu	37	chr1	171302046	171302046	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atggattaagtattaccaaaGggtacttacattttttattt	13	18	6	4	0	0	0	0	0	0	0	0	1	0	1	1	2	3	2	1	2	7	9			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:171302046G>A	ENST00000367749.3	+	7	1156	c.826G>A	c.(826-828)Ggg>Agg	p.G276R	FMO4_ENST00000462992.1_3'UTR	NM_002022.1	NP_002013.1	P31512	FMO4_HUMAN	flavin containing monooxygenase 4	276					xenobiotic metabolic process	integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_cancers(6;3.9e-08)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					TATTACCAAAGGGTACTTACA	0.254													A	171302046	G	A	171302046	5	1	749	1	0	0	0	0	0	0	1	0	6006	1014	35	2	844	2	FMO4	1	171302046	Splice_Site	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	1603603	171302046	77948575	5	56437											
PLEKHA6	22874	broad.mit.edu	37	chr1	204228468	204228468	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggagctcttgcgctgggCaattttgtcagggttggtgc	5	13	15	8	1	2	0	1	0	1	0	2	1	2	1	0	4	3	4	0	4	1	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:204228468C>T	ENST00000272203.3	-	8	1241	c.925G>A	c.(925-927)Gcc>Acc	p.A309T	PLEKHA6_ENST00000414478.1_Missense_Mutation_p.A329T	NM_014935.4	NP_055750.2	Q9Y2H5	PKHA6_HUMAN	pleckstrin homology domain containing, family A member 6	309	Pro-rich.									breast(2)|endometrium(6)|kidney(1)|large_intestine(9)|lung(21)|ovary(3)|pancreas(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53	all_cancers(21;0.0222)|Breast(84;0.179)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|BRCA - Breast invasive adenocarcinoma(75;0.0833)|Kidney(21;0.0934)|Epithelial(59;0.229)			TTGCGCTGGGCAATTTTGTCA	0.647													T	204228468	C	T	204228468	3	4	749	1	0	0	0	0	1	0	0	0	12137	710	25	2	2281	2	PLEKHA6	1	204228468	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	32926422	204228468	45022153	6	56438											
IKBKE	9641	broad.mit.edu	37	chr1	206653790	206653790	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctcagtctccccttggacagGgaggtgctccaggccacatg	7	8	12	14	0	2	0	1	0	1	0	4	2	3	2	4	4	1	1	4	4	0	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr1:206653790G>A	ENST00000367120.3	+	13	1714	c.1341G>A	c.(1339-1341)atG>atA	p.M447I	IKBKE_ENST00000537984.1_Splice_Site_p.M362I	NM_001193322.1|NM_014002.3	NP_001180251.1|NP_054721.1	Q14164	IKKE_HUMAN	inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase epsilon	447	Leucine-zipper.				DNA damage response, signal transduction resulting in induction of apoptosis|innate immune response|MyD88-independent toll-like receptor signaling pathway|negative regulation of type I interferon production|positive regulation of I-kappaB kinase/NF-kappaB cascade|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|endosome membrane|plasma membrane|PML body	ATP binding|IkappaB kinase activity|NF-kappaB-inducing kinase activity|protein binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(13)|ovary(3)|skin(2)	32	Breast(84;0.137)					CCTTGGACAGGGAGGTGCTCC	0.622													A	206653790	G	A	206653790	5	1	749	1	0	0	0	0	0	0	1	0	7670	1246	43	2	1383	2	IKBKE	1	206653790	Splice_Site	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	2425322	206653790	42596831	7	56439											
ANKRD36	375248	broad.mit.edu	37	chr2	97869979	97869979	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atatagccagaggaaaaaagGatggagaaaaaactaggaca	22	4	11	4	0	0	2	0	0	0	2	0	6	0	5	1	4	2	0	1	4	9	3	rs111515821		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:97869979G>T	ENST00000420699.2	+	50	3284	c.3040G>T	c.(3040-3042)Gat>Tat	p.D1014Y	ANKRD36_ENST00000461153.2_Missense_Mutation_p.D1014Y	NM_001164315.1	NP_001157787.1	A6QL64	AN36A_HUMAN	ankyrin repeat domain 36	1014								p.D1014Y(5)		endometrium(9)|kidney(5)|liver(1)|lung(3)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23						AGGAAAAAAGGATGGAGAAAA	0.328													T	97869979	G	T	97869979	3	4	749	1	0	0	0	0	1	0	0	0	665	1174	41	4	3238	4	ANKRD36	2	97869979	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		97869979	145329394	8	56440											
ABI2	10152	broad.mit.edu	37	chr2	204281776	204281776	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgctgaagaggacccaccGtgggctccacgttcttactt	8	11	10	12	2	1	2	0	1	1	1	2	3	2	3	3	2	2	3	3	2	3	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:204281776G>A	ENST00000295851.5	+	10	1634	c.1338G>A	c.(1336-1338)ccG>ccA	p.P446P	ABI2_ENST00000261018.7_Silent_p.P232P|ABI2_ENST00000261017.5_Silent_p.P408P|RAPH1_ENST00000457812.1_Intron|ABI2_ENST00000261016.6_Silent_p.P334P|ABI2_ENST00000424558.1_Silent_p.P440P|ABI2_ENST00000430418.1_Silent_p.P391P|ABI2_ENST00000422511.2_Silent_p.P413P	NM_001282925.1|NM_001282926.1	NP_001269854.1|NP_001269855.1	Q9NYB9	ABI2_HUMAN	abl-interactor 2						actin polymerization or depolymerization|cell migration|peptidyl-tyrosine phosphorylation	cytoskeleton|cytosol|filopodium|lamellipodium	cytoskeletal adaptor activity|DNA binding|kinase binding|proline-rich region binding|SH3 domain binding|ubiquitin protein ligase binding			breast(1)|kidney(3)|large_intestine(1)|liver(2)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	15						AGGACCCACCGTGGGCTCCAC	0.468													A	204281776	G	A	204281776	2	1	749	1	0	0	0	0	0	0	0	1	89	1132	40	1		1	ABI2	2	204281776	Silent	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	106411797	204281776	38917597	9	56441											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	749	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	4831336	209113112	34086261	10	56442											
CCDC108	255101	broad.mit.edu	37	chr2	219894928	219894928	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatcctgaagggggcattTacctgtgtggccaagcagaa	11	9	12	9	0	1	2	1	1	0	1	2	2	2	2	3	3	2	2	3	3	5	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:219894928T>C	ENST00000341552.5	-	10	1247	c.1164A>G	c.(1162-1164)gtA>gtG	p.V388V	CCDC108_ENST00000441968.1_Silent_p.V388V|CCDC108_ENST00000410037.1_Silent_p.V323V|CCDC108_ENST00000453220.1_Silent_p.V388V|CCDC108_ENST00000409865.3_Silent_p.V377V	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	388						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGGGGCATTTACCTGTGTGG	0.567											OREG0015211	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	219894928	T	C	219894928	2	2	749	1	0	0	0	0	0	0	0	1	2769	1741	61	3		3	CCDC108	2	219894928	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	10781816	219894928	23304445	11	56443											
NGEF	25791	broad.mit.edu	37	chr2	233756167	233756167	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	gggtcgagctctagctgcgcGatcagctcccggaaagctgc	7	7	14	13	4	2	0	1	0	1	0	4	3	3	1	1	2	6	4	1	2	2	1	rs148012306		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr2:233756167G>C	ENST00000264051.3	-	8	1451	c.1173C>G	c.(1171-1173)atC>atG	p.I391M	NGEF_ENST00000539537.1_Missense_Mutation_p.I114M|NGEF_ENST00000373552.4_Missense_Mutation_p.I299M	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	391	DH.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CTAGCTGCGCGATCAGCTCCC	0.612													C	233756167	G	C	233756167	3	2	749	1	0	0	0	0	1	0	0	0	10470	1048	37	4	991	4	NGEF	2	233756167	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	13861239	233756167	9443206	12	56444											
CIDEC	63924	broad.mit.edu	37	chr3	9911660	9911660	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gttcaggcagccaatgaagtCctgtgggttcagcttgtaca	9	11	12	9	0	2	1	2	1	0	0	3	1	3	1	2	2	3	5	2	2	3	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr3:9911660C>G	ENST00000336832.2	-	5	599	c.460G>C	c.(460-462)Gac>Cac	p.D154H	CIDEC_ENST00000443115.1_Intron|CIDEC_ENST00000430427.1_Missense_Mutation_p.D164H|CIDEC_ENST00000455015.1_Missense_Mutation_p.D80H|CIDEC_ENST00000423850.1_Missense_Mutation_p.D80H|CIDEC_ENST00000383817.1_Intron	NM_001199552.1|NM_001199623.1|NM_022094.3	NP_001186481.1|NP_001186552.1|NP_071377.2	Q96AQ7	CIDEC_HUMAN	cell death-inducing DFFA-like effector c	154					apoptosis|induction of apoptosis	cytosol|focal adhesion|nucleus				breast(2)|central_nervous_system(1)|endometrium(1)|lung(2)|ovary(1)|skin(1)	8	Medulloblastoma(99;0.227)					CCAATGAAGTCCTGTGGGTTC	0.512													G	9911660	C	G	9911660	3	3	749	1	0	0	0	0	1	0	0	0	3457	855	30	4	264	4	CIDEC	3	9911660	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		9911660	188110770	13	56445											
GUCY1A3	2982	broad.mit.edu	37	chr4	156632083	156632083	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcagccctacttgttgtacTccgttcacatgaaaagcacc	11	11	6	13	1	2	1	2	1	0	0	3	1	3	1	3	0	4	4	3	0	4	5			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr4:156632083T>C	ENST00000296518.7	+	6	975	c.766T>C	c.(766-768)Tcc>Ccc	p.S256P	GUCY1A3_ENST00000511108.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000393832.3_5'UTR|GUCY1A3_ENST00000513574.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000506455.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000511507.1_Missense_Mutation_p.S256P|GUCY1A3_ENST00000455639.2_Missense_Mutation_p.S256P			Q02108	GCYA3_HUMAN	guanylate cyclase 1, soluble, alpha 3	256					blood circulation|intracellular signal transduction|nitric oxide mediated signal transduction|platelet activation	guanylate cyclase complex, soluble	GTP binding|guanylate cyclase activity|heme binding|receptor activity			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|liver(2)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	64	all_hematologic(180;0.24)	Renal(120;0.0854)		COAD - Colon adenocarcinoma(41;0.17)		CTTGTTGTACTCCGTTCACAT	0.483													C	156632083	T	C	156632083	3	2	749	1	0	0	0	0	1	0	0	0	6949	1551	54	3	780	3	GUCY1A3	4	156632083	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		156632083	34522193	14	56446											
CMYA5	202333	broad.mit.edu	37	chr5	79034604	79034604	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacccagaaaataagttatgCggttccatttgaagacaccc	14	10	7	10	1	0	3	0	1	0	2	1	3	1	3	3	1	2	2	3	1	6	5			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:79034604C>T	ENST00000446378.2	+	2	10047	c.10016C>T	c.(10015-10017)gCg>gTg	p.A3339V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	3339						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ATAAGTTATGCGGTTCCATTT	0.483													T	79034604	C	T	79034604	3	4	749	1	0	0	0	0	1	0	0	0	3621	768	27	1	10022	1	CMYA5	5	79034604	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		79034604	101880656	15	56447											
C5orf20	140947	broad.mit.edu	37	chr5	134782426	134782426	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtttccgggctccctcccGcctggtctggcctgtcttcc	1	13	10	17	2	2	0	0	0	2	0	6	0	6	0	6	3	0	2	6	3	0	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:134782426G>A	ENST00000503143.2	-	1	612	c.373C>T	c.(373-375)Cgg>Tgg	p.R125W	TIFAB_ENST00000537858.1_3'UTR	NM_130848.2	NP_570900.1	Q8TF63	DCNP1_HUMAN	chromosome 5 open reading frame 20	125						nucleus				endometrium(1)|lung(1)|prostate(1)	3			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GCTCCCTCCCGCCTGGTCTGG	0.552													A	134782426	G	A	134782426	3	1	749	1	0	0	0	0	1	0	0	0	2306	1086	38	1	365	1	C5orf20	5	134782426	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	55747822	134782426	46132834	16	56448											
SPINK5	11005	broad.mit.edu	37	chr5	147466068	147466068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agatgggaaaacatatgacaAcagatgtgcactgtgtgctg	14	9	12	6	0	0	3	0	1	0	2	0	4	0	4	0	1	4	2	0	1	4	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr5:147466068A>G	ENST00000359874.3	+	5	456	c.383A>G	c.(382-384)aAc>aGc	p.N128S	SPINK5_ENST00000398454.1_Missense_Mutation_p.N128S|SPINK5_ENST00000256084.7_Missense_Mutation_p.N128S	NM_001127698.1	NP_001121170.1	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	128	Kazal-like 2.				anagen|epithelial cell differentiation|extracellular matrix organization|hair cell differentiation|negative regulation of angiogenesis|negative regulation of immune response|regulation of T cell differentiation	cell cortex|cytosol|endoplasmic reticulum membrane|extracellular region|lamellar body|perinuclear region of cytoplasm	serine-type endopeptidase inhibitor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACATATGACAACAGATGTGCA	0.378													G	147466068	A	G	147466068	3	3	749	1	0	0	0	0	1	0	0	0	15158	43	2	3	401	3	SPINK5	5	147466068	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	12683642	147466068	33449192	17	56449											
MCM9	254394	broad.mit.edu	37	chr6	119238864	119238864	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gactatctccacttcacagcGcacatcttgctgaaagggct	10	10	8	13	1	3	1	1	1	2	0	4	2	3	1	1	1	2	3	1	1	2	3	rs142688993	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr6:119238864G>A	ENST00000316316.6	-	5	1052	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C	MCM9_ENST00000316068.3_Missense_Mutation_p.R256C	NM_017696.2	NP_060166.2	Q9NXL9	MCM9_HUMAN	minichromosome maintenance complex component 9	256					DNA replication		ATP binding|DNA binding|nucleoside-triphosphatase activity			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		all_cancers(87;0.122)|all_epithelial(87;0.179)		GBM - Glioblastoma multiforme(226;0.0676)|OV - Ovarian serous cystadenocarcinoma(136;0.194)		ACTTCACAGCGCACATCTTGC	0.453													A	119238864	G	A	119238864	3	1	749	1	0	0	0	0	1	0	0	0	9469	1087	38	1	421	1	MCM9	6	119238864	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08		119238864	51876203	18	56450											
MACC1	346389	broad.mit.edu	37	chr7	20198631	20198635	+	Frame_Shift_Del	DEL	TTCTC	TTCTC	-																															ttttgtttaatttctttcctTtctccttctgtctttacttc																										TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:20198631_20198635delTTCTC	ENST00000400331.5	-	5	1657_1661	c.1349_1353delGAGAA	c.(1348-1353)ggagaafs	p.GE450fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.GE450fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.GE450fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	450					positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity			endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TTTCTTTCCTTTCTCCTTCTGTCTT	0.346													-	20198635	TTCTC	-	20198631	7	5	749	1	0	1	0	1	0	0	0	0	9214	1838	64	0	1217	0	MACC1	7	20198631	Frame_Shift_Del	DEL	TTCTC	TCGA-TM-A84H-01A-11D-A36O-08		20198631	138940032	19	56451											
VPS41	27072	broad.mit.edu	37	chr7	38805189	38805189	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttgcttaccttaagctgTccaatttctttaaatttata	10	19	4	8	0	1	0	0	0	1	0	2	0	2	0	2	0	3	3	2	0	7	9			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr7:38805189T>C	ENST00000310301.4	-	16	1374	c.1320A>G	c.(1318-1320)ggA>ggG	p.G440G	VPS41_ENST00000395969.2_Silent_p.G415G	NM_014396.3	NP_055211.2	P49754	VPS41_HUMAN	vacuolar protein sorting 41 homolog (S. cerevisiae)	440					Golgi vesicle transport|intracellular protein transport|vesicle-mediated transport	cytosol|Golgi-associated vesicle|HOPS complex|membrane fraction	zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)	44						CCTTAAGCTGTCCAATTTCTT	0.338													C	38805189	T	C	38805189	2	2	749	1	0	0	0	0	0	0	0	1	17312	1654	58	3		3	VPS41	7	38805189	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	18606558	38805189	120333474	20	56452											
CSMD3	114788	broad.mit.edu	37	chr8	113988234	113988234	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aacttgcactcgctgttcctCggaaagtctatggatggtga	9	12	11	9	2	1	1	0	1	1	0	4	3	2	3	1	3	2	3	1	3	3	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr8:113988234C>T	ENST00000297405.5	-	7	1418	c.1174G>A	c.(1174-1176)Gag>Aag	p.E392K	CSMD3_ENST00000455883.2_Intron|CSMD3_ENST00000352409.3_Missense_Mutation_p.E392K|CSMD3_ENST00000343508.3_Missense_Mutation_p.E352K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	392						integral to membrane|plasma membrane		p.E392K(1)		breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CGCTGTTCCTCGGAAAGTCTA	0.502										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			T	113988234	C	T	113988234	3	4	749	1	0	0	0	0	1	0	0	0	3979	893	31	1	10209	1	CSMD3	8	113988234	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		113988234	32375788	21	56453											
PFKP	5214	broad.mit.edu	37	chr10	3175464	3175464	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattcagaagagggcaaaggCgtgtttgactgcaggaagaa	14	8	14	5	1	1	4	1	1	0	3	1	5	1	5	0	3	1	3	0	3	5	3	rs35828349	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:3175464C>T	ENST00000381075.2	+	21	2180	c.1956C>T	c.(1954-1956)ggC>ggT	p.G652G	PFKP_ENST00000381072.1_Silent_p.G78G|PFKP_ENST00000381125.4_Silent_p.G660G	NM_001242339.1	NP_001229268.1	Q01813	K6PP_HUMAN	phosphofructokinase, platelet	660					glycolysis	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|metal ion binding|protein binding			breast(2)|central_nervous_system(4)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31				GBM - Glioblastoma multiforme(1;0.000975)|all cancers(11;0.00351)|Epithelial(11;0.142)		AGGGCAAAGGCGTGTTTGACT	0.493													T	3175464	C	T	3175464	2	4	749	1	0	0	0	0	0	0	0	1	11843	755	27	1		1	PFKP	10	3175464	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		3175464	132359283	22	56454											
CUL2	8453	broad.mit.edu	37	chr10	35322128	35322128	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcataaaatgctgatcaccaTtcaaaacagtgttgataagc	16	11	6	8	0	3	2	3	2	0	0	3	2	3	2	1	0	3	2	1	0	5	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:35322128T>G	ENST00000374748.1	-	12	1389	c.1076A>C	c.(1075-1077)aAt>aCt	p.N359T	CUL2_ENST00000374746.1_Missense_Mutation_p.N359T|CUL2_ENST00000374751.3_Missense_Mutation_p.N359T|CUL2_ENST00000537177.1_Missense_Mutation_p.N378T|CUL2_ENST00000602371.1_Missense_Mutation_p.N302T|CUL2_ENST00000374742.1_Missense_Mutation_p.N359T|CUL2_ENST00000374749.3_Missense_Mutation_p.N359T			Q13617	CUL2_HUMAN	cullin 2	359					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CTGATCACCATTCAAAACAGT	0.308													G	35322128	T	G	35322128	3	3	749	1	0	0	0	0	1	0	0	0	4088	1493	52	5	1205	5	CUL2	10	35322128	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	32146664	35322128	100212619	23	56455											
CDH23	64072	broad.mit.edu	37	chr10	73567468	73567468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcaggaggtgcgcgttgTgctagaggacatcaacgacc	10	7	14	10	3	1	1	1	0	0	1	1	4	1	3	1	3	4	3	1	3	2	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:73567468T>C	ENST00000224721.6	+	58	8524	c.8519T>C	c.(8518-8520)gTg>gCg	p.V2840A	CDH23_ENST00000398788.3_Missense_Mutation_p.V595A|CDH23_ENST00000475158.1_3'UTR	NM_022124.5	NP_071407.4	Q9H251	CAD23_HUMAN	cadherin-related 23	2835	Cadherin 26.				calcium ion transport|calcium-dependent cell-cell adhesion|cytosolic calcium ion homeostasis|equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	cytosol|integral to membrane|plasma membrane|stereocilium	calcium ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(6)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(27)|lung(49)|ovary(3)|pancreas(1)|prostate(7)|stomach(7)|upper_aerodigestive_tract(3)	133						GTGCGCGTTGTGCTAGAGGAC	0.637													C	73567468	T	C	73567468	3	2	749	1	0	0	0	0	1	0	0	0	3138	1696	59	3	9079	3	CDH23	10	73567468	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	38245340	73567468	61967279	24	56456											
MKI67	4288	broad.mit.edu	37	chr10	129904148	129904148	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggggttttgactgggtctgGttgtggagatttgcaggata	6	15	17	3	0	1	2	0	1	1	1	1	4	1	3	0	6	1	3	0	6	1	5			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr10:129904148G>C	ENST00000368654.3	-	13	6331	c.5956C>G	c.(5956-5958)Cca>Gca	p.P1986A	MKI67_ENST00000368653.3_Missense_Mutation_p.P1626A	NM_002417.4	NP_002408.3	P46013	KI67_HUMAN	marker of proliferation Ki-67	1986	16 X 122 AA approximate repeats.				cell proliferation	nucleolus	ATP binding|protein C-terminus binding			NS(2)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(5)|kidney(7)|large_intestine(30)|lung(64)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|soft_tissue(1)|stomach(10)|upper_aerodigestive_tract(4)|urinary_tract(4)	159		all_epithelial(44;2.12e-05)|all_lung(145;0.00679)|Lung NSC(174;0.00998)|all_neural(114;0.0936)|Colorectal(57;0.14)|Breast(234;0.166)|Melanoma(40;0.203)				ACTGGGTCTGGTTGTGGAGAT	0.488													C	129904148	G	C	129904148	3	2	749	1	0	0	0	0	1	0	0	0	9673	1261	44	4	3826	4	MKI67	10	129904148	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	56336680	129904148	5630599	25	56457											
MUC5B	727897	broad.mit.edu	37	chr11	1269642	1269642	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccacggccaccacaacCagggccaccggctctgtggc	9	3	10	19	2	1	0	0	0	1	0	1	0	1	0	7	4	1	1	7	4	1	0			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:1269642C>A	ENST00000447027.1	+	31	11599	c.11541C>A	c.(11539-11541)acC>acA	p.T3847T	MUC5B_ENST00000529681.1_Silent_p.T3844T|RP11-532E4.2_ENST00000532061.2_RNA			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3844	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACCACAACCAGGGCCACCG	0.632													A	1269642	C	A	1269642	2	1	749	1	0	0	0	0	0	0	0	1	10055	581	21	4		4	MUC5B	11	1269642	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		1269642	133736874	26	56458											
OR52E4	390081	broad.mit.edu	37	chr11	5906365	5906365	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attcttttggctaacctgtaTgtggttgtcccacctgccct	5	16	8	12	0	1	0	0	0	1	0	2	0	2	0	4	2	2	3	4	2	2	6			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr11:5906365T>C	ENST00000316987.2	+	1	865	c.843T>C	c.(841-843)taT>taC	p.Y281Y		NM_001005165.1	NP_001005165.1	Q8NGH9	O52E4_HUMAN	olfactory receptor, family 52, subfamily E, member 4	281					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(2)|prostate(1)|skin(2)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.24e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTAACCTGTATGTGGTTGTCC	0.388													C	5906365	T	C	5906365	2	2	749	1	0	0	0	0	0	0	0	1	11192	1471	51	3		3	OR52E4	11	5906365	Silent	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	4636723	5906365	129100151	27	56459											
WNK1	65125	broad.mit.edu	37	chr12	992630	992630	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aagtgcgagaaattattgaaAaagctgatgaaatgctcagt	17	10	10	4	1	1	4	1	3	0	1	1	5	1	4	0	0	3	2	0	0	6	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:992630A>G	ENST00000537687.1	+	16	4982	c.4339A>G	c.(4339-4341)Aaa>Gaa	p.K1447E	WNK1_ENST00000315939.6_Missense_Mutation_p.K1187E|WNK1_ENST00000530271.2_Missense_Mutation_p.K1685E|WNK1_ENST00000340908.4_Missense_Mutation_p.K780E|WNK1_ENST00000535572.1_Missense_Mutation_p.K940E	NM_001184985.1|NM_213655.4	NP_001171914.1|NP_998820.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	1187					intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			AATTATTGAAAAAGCTGATGA	0.403													G	992630	A	G	992630	3	3	749	1	0	0	0	0	1	0	0	0	17479	15	1	3	5123	3	WNK1	12	992630	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08		992630	132859265	28	56460											
KRT82	3888	broad.mit.edu	37	chr12	52793851	52793851	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccttgatctcagcgatgatgCcgtccacgtccagctcccgg	6	9	10	16	4	1	2	1	2	1	0	5	3	4	2	5	1	3	1	5	1	0	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:52793851C>T	ENST00000257974.2	-	5	937	c.860G>A	c.(859-861)gGc>gAc	p.G287D	RP3-416H24.4_ENST00000547174.1_RNA	NM_033033.3	NP_149022.3	Q9NSB4	KRT82_HUMAN	keratin 82	287	Coil 2.|Rod.					keratin filament	protein binding|structural constituent of epidermis			endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(13)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	29				BRCA - Breast invasive adenocarcinoma(357;0.193)		AGCGATGATGCCGTCCACGTC	0.617													T	52793851	C	T	52793851	3	4	749	1	0	0	0	0	1	0	0	0	8554	739	26	2	701	2	KRT82	12	52793851	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	51801221	52793851	81058044	29	56461											
FZD10	11211	broad.mit.edu	37	chr12	130649165	130649165	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggtgggatttacaaaaaaGcccagcatccccagaaaact	15	6	9	11	1	0	1	0	0	0	1	1	2	1	2	3	2	4	1	3	2	6	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr12:130649165G>A	ENST00000229030.4	+	1	2162	c.1678G>A	c.(1678-1680)Gcc>Acc	p.A560T	FZD10_ENST00000539839.1_3'UTR			Q9ULW2	FZD10_HUMAN	frizzled family receptor 10	560					brain development|canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|gonad development|negative regulation of Rho GTPase activity|neuron differentiation|non-canonical Wnt receptor signaling pathway|positive regulation of JUN kinase activity|positive regulation of Rac GTPase activity|regulation of actin cytoskeleton organization|vasculature development	cell projection|cell surface|cytoplasm|integral to plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		TTACAAAAAAGCCCAGCATCC	0.592													A	130649165	G	A	130649165	3	1	749	1	0	0	0	0	1	0	0	0	6181	971	34	2	1680	2	FZD10	12	130649165	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	77855314	130649165	3202730	30	56462											
TPTE2	93492	broad.mit.edu	37	chr13	20056686	20056686	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggaaagtcgttctaacaTactttagccaccaaaaaaaa	17	10	5	9	1	1	0	0	0	1	0	2	1	1	1	2	1	3	1	2	1	8	6			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:20056686T>C	ENST00000400230.2	-	4	165	c.121A>G	c.(121-123)Atg>Gtg	p.M41V	TPTE2_ENST00000400103.2_Splice_Site_p.M41V|TPTE2_ENST00000390680.2_Intron|TPTE2_ENST00000457266.2_Splice_Site_p.M41V|TPTE2_ENST00000382975.4_Splice_Site_p.M41V|TPTE2_ENST00000255310.6_Intron|TPTE2_ENST00000382977.4_Splice_Site_p.M41V|TPTE2_ENST00000382978.1_Splice_Site_p.M41V			Q6XPS3	TPTE2_HUMAN	transmembrane phosphoinositide 3-phosphatase and tensin homolog 2	41						endoplasmic reticulum membrane|integral to membrane	ion channel activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(2)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(8)|lung(21)|pancreas(1)|prostate(8)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		all_cancers(29;1.23e-20)|all_lung(29;1.97e-20)|all_epithelial(30;5.86e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;1.73e-05)|Epithelial(112;7.42e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000785)|Lung(94;0.0176)|LUSC - Lung squamous cell carcinoma(192;0.089)		CGTTCTAACATACTTTAGCCA	0.313													C	20056686	T	C	20056686	5	2	749	1	0	0	0	0	0	0	1	0	16532	1420	49	3	1515	3	TPTE2	13	20056686	Splice_Site	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		20056686	95113192	31	56463											
GAS6	2621	broad.mit.edu	37	chr13	114531573	114531573	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acctcccacggtcaggttcaGatgatacagtcctcgctccg	8	9	9	15	3	2	2	2	1	0	1	6	2	5	2	4	2	1	2	4	2	1	2	rs149411733		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr13:114531573G>C	ENST00000357389.3	-	11	1536	c.1384C>G	c.(1384-1386)Ctg>Gtg	p.L462V	GAS6-AS1_ENST00000458001.1_RNA|GAS6_ENST00000327773.6_Missense_Mutation_p.L419V|GAS6_ENST00000355761.4_Missense_Mutation_p.L365V|GAS6_ENST00000418959.3_Missense_Mutation_p.L120V|GAS6_ENST00000450766.1_Missense_Mutation_p.L146V			Q14393	GAS6_HUMAN	growth arrest-specific 6	462	Laminin G-like 1.				cell proliferation|leukocyte migration|peptidyl-glutamic acid carboxylation|platelet activation|platelet degranulation|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|post-translational protein modification|proteolysis|regulation of growth	endoplasmic reticulum lumen|extracellular space|Golgi lumen|platelet alpha granule lumen	calcium ion binding|receptor agonist activity			central_nervous_system(4)|ovary(1)	5	Lung NSC(43;0.00976)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0176)|all_epithelial(44;0.0104)|all_lung(25;0.0249)|Lung NSC(25;0.0908)|Breast(118;0.188)				GTCAGGTTCAGATGATACAGT	0.577													C	114531573	G	C	114531573	3	2	749	1	0	0	0	0	1	0	0	0	6303	933	33	4	801	4	GAS6	13	114531573	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	94474887	114531573	638305	32	56464											
ZFYVE1	53349	broad.mit.edu	37	chr14	73464558	73464558	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcacggtctcatggaagaTgataactgcagggcccagtg	10	8	14	9	1	1	2	1	1	1	1	2	3	1	3	1	3	3	2	1	3	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:73464558T>C	ENST00000556143.1	-	3	1669	c.949A>G	c.(949-951)Atc>Gtc	p.I317V	ZFYVE1_ENST00000553891.1_Missense_Mutation_p.I317V|ZFYVE1_ENST00000318876.5_Missense_Mutation_p.I317V	NM_001281735.1|NM_021260.2	NP_001268664.1|NP_067083.1	Q9HBF4	ZFYV1_HUMAN	zinc finger, FYVE domain containing 1	317						endoplasmic reticulum|Golgi stack|perinuclear region of cytoplasm	1-phosphatidylinositol binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(17)|ovary(1)|prostate(2)|skin(1)	35		all_lung(585;1.33e-09)		OV - Ovarian serous cystadenocarcinoma(108;1.6e-46)|BRCA - Breast invasive adenocarcinoma(234;0.00349)		TCATGGAAGATGATAACTGCA	0.537													C	73464558	T	C	73464558	3	2	749	1	0	0	0	0	1	0	0	0	17764	1464	51	3	1424	3	ZFYVE1	14	73464558	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08		73464558	33884982	33	56465											
OTUB2	78990	broad.mit.edu	37	chr14	94503790	94503790	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atccattcttcgggaccatcCtgaaaacaggatttaccgga	12	10	8	11	2	1	1	0	1	1	0	4	4	3	4	4	3	2	0	4	3	3	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr14:94503790C>T	ENST00000203664.5	+	2	277	c.68C>T	c.(67-69)cCt>cTt	p.P23L	OTUB2_ENST00000553723.1_Missense_Mutation_p.P23L	NM_023112.3	NP_075601.1	Q96DC9	OTUB2_HUMAN	OTU domain, ubiquitin aldehyde binding 2	23					cellular amino acid metabolic process|protein K48-linked deubiquitination|protein K63-linked deubiquitination		omega peptidase activity|protein binding|ubiquitin-specific protease activity			kidney(1)|large_intestine(1)|lung(2)|ovary(1)	5		all_cancers(154;0.12)		Epithelial(152;0.124)|all cancers(159;0.21)|COAD - Colon adenocarcinoma(157;0.215)		CGGGACCATCCTGAAAACAGG	0.438											OREG0022890	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	94503790	C	T	94503790	3	4	749	1	0	0	0	0	1	0	0	0	11388	681	24	2	74	2	OTUB2	14	94503790	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	21039232	94503790	12845750	34	56466											
TP53	7157	broad.mit.edu	37	chr17	7578418	7578418	+	Frame_Shift_Del	DEL	T	T	-																															gggggcagcgcctcacaaccTccgtcatgtgctgtgactgc																								rs66983534		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:7578418delT	ENST00000420246.2	-	5	644	c.512delA	c.(511-513)gagfs	p.E171fs	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000269305.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E171fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.E171fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E171fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	171	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		E -> A (in a sporadic cancer; somatic mutation).|E -> D (in sporadic cancers; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in a sporadic cancer; somatic mutation).|E -> V (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.0?(8)|p.E171fs*2(3)|p.E171G(3)|p.E171V(2)|p.V157_C176del20(1)|p.T170fs*2(1)|p.H168fs*69(1)|p.E171fs*1(1)|p.T170fs*8(1)|p.P151_V173del23(1)|p.E78fs*2(1)|p.E171_V172delEV(1)|p.E171_H179delEVVRRCPHH(1)|p.E171fs*61(1)|p.S149fs*72(1)|p.E39fs*2(1)|p.E171A(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)		CCTCACAACCTCCGTCATGTG	0.662		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)			-	7578418	T	-	7578418	7	5	749	1	0	1	0	1	0	0	0	0	16482	1551	54	0	786	0	TP53	17	7578418	Frame_Shift_Del	DEL	T	TCGA-TM-A84H-01A-11D-A36O-08		7578418	73616792	35	56467											
RAI1	10743	broad.mit.edu	37	chr17	17698028	17698028	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttctccaagttcgtggCgggtgagcgggactgtccgc	5	9	15	12	4	1	1	0	1	1	0	4	2	2	2	2	3	2	2	2	3	1	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:17698028C>T	ENST00000353383.1	+	3	2235	c.1766C>T	c.(1765-1767)gCg>gTg	p.A589V	RAI1_ENST00000261641.6_Missense_Mutation_p.A589V	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	589						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		AAGTTCGTGGCGGGTGAGCGG	0.632													T	17698028	C	T	17698028	3	4	749	1	0	0	0	0	1	0	0	0	13095	768	27	1	1768	1	RAI1	17	17698028	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	10119610	17698028	63497182	36	56468											
DNAH17	8632	broad.mit.edu	37	chr17	76464785	76464785	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggacttgacttggggtcGcatggaggagatgatgttct	9	11	16	5	1	1	3	0	2	1	1	2	6	1	5	0	5	0	2	0	5	1	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr17:76464785G>A	ENST00000389840.5	-	55	8774	c.8650C>T	c.(8650-8652)Cga>Tga	p.R2884*	DNAH17_ENST00000585328.1_Nonsense_Mutation_p.R2893*|DNAH17_ENST00000586052.1_5'UTR					dynein, axonemal, heavy chain 17											NS(2)|breast(7)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(8)|lung(37)|ovary(8)|prostate(7)|skin(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(3)	116			BRCA - Breast invasive adenocarcinoma(99;0.00294)|OV - Ovarian serous cystadenocarcinoma(97;0.0656)			ACTTGGGGTCGCATGGAGGAG	0.542													A	76464785	G	A	76464785	4	1	749	1	0	0	0	0	0	1	0	0	4640	1095	38	1	4804	1	DNAH17	17	76464785	Nonsense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	58766757	76464785	4730425	37	56469											
DSG2	1829	broad.mit.edu	37	chr18	29126227	29126227	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtcctagccagccacagAgccttattgtgacagagagg	10	8	13	10	0	0	3	0	1	0	2	1	4	1	3	4	2	3	0	4	2	2	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr18:29126227A>T	ENST00000261590.8	+	15	3087	c.2878A>T	c.(2878-2880)Agc>Tgc	p.S960C	RP11-75N4.2_ENST00000583706.1_RNA	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	960					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			CCAGCCACAGAGCCTTATTGT	0.473													T	29126227	A	T	29126227	3	4	749	1	0	0	0	0	1	0	0	0	4816	304	11	5	2936	5	DSG2	18	29126227	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08		29126227	48951021	38	56470											
UHRF1	29128	broad.mit.edu	37	chr19	4929125	4929125	+	RNA	DEL	C	C	-																															ctttactctgatgcagattgCcccccccccacaagggctgg																								rs66904189		TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:4929125delC	ENST00000592666.1	+	0	729							Q96T88	UHRF1_HUMAN	ubiquitin-like with PHD and ring finger domains 1						cell cycle|cell proliferation|DNA repair|regulation of transcription from RNA polymerase II promoter	nucleus	acid-amino acid ligase activity|methyl-CpG binding|methylated histone residue binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|upper_aerodigestive_tract(2)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0276)		ATGCAGATTGCCCCCCCCCCA	0.607													-	4929125	C	-	4929125	6	5	749	0	1	1	0	1	0	0	0	0	17069	754	26	0		0	UHRF1	19	4929125	RNA	DEL	C	TCGA-TM-A84H-01A-11D-A36O-08		4929125	54199858	39	56471											
MUC16	94025	broad.mit.edu	37	chr19	9069138	9069138	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagacctcagtagcagcaTccagggacacactggagaaa	14	5	12	10	0	1	2	1	0	0	2	2	5	2	3	2	3	2	3	2	3	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9069138T>G	ENST00000397910.4	-	3	18511	c.18308A>C	c.(18307-18309)gAt>gCt	p.D6103A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6105	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						AGTAGCAGCATCCAGGGACAC	0.498													G	9069138	T	G	9069138	3	3	749	1	0	0	0	0	1	0	0	0	10049	1435	50	5	25543	5	MUC16	19	9069138	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	4140013	9069138	50059845	40	56472											
MUC16	94025	broad.mit.edu	37	chr19	9073357	9073357	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggtttccaaggttgatgtgtCtaaggcaagtggaatctttg	9	14	13	5	0	2	1	0	1	2	0	3	2	3	2	1	4	0	3	1	4	4	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:9073357C>G	ENST00000397910.4	-	3	14292	c.14089G>C	c.(14089-14091)Gac>Cac	p.D4697H		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4699	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.D4697Y(2)|p.D330Y(1)		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						GTTGATGTGTCTAAGGCAAGT	0.473													G	9073357	C	G	9073357	3	3	749	1	0	0	0	0	1	0	0	0	10049	913	32	4	29762	4	MUC16	19	9073357	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	4219	9073357	50055626	41	56473											
SMARCA4	6597	broad.mit.edu	37	chr19	11138480	11138480	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctggacctgtaccgagcctCgggtaaatttgagcttcttg	7	12	12	10	2	1	1	0	1	1	0	2	3	1	2	3	2	3	4	3	2	3	5			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:11138480C>T	ENST00000358026.2	+	24	3520	c.3236C>T	c.(3235-3237)tCg>tTg	p.S1079L	SMARCA4_ENST00000429416.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000413806.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000344626.4_Missense_Mutation_p.S1079L|SMARCA4_ENST00000450717.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000589677.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000590574.1_Missense_Mutation_p.S1079L|SMARCA4_ENST00000444061.3_Missense_Mutation_p.S1079L|SMARCA4_ENST00000541122.2_Missense_Mutation_p.S1079L	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1079					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(2)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				TACCGAGCCTCGGGTAAATTT	0.532			"F, N, Mis"		NSCLC								T	11138480	C	T	11138480	3	4	749	1	0	0	0	0	1	0	0	0	14864	893	31	1	3326	1	SMARCA4	19	11138480	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	2065123	11138480	47990503	42	56474											
ZNF99	7652	broad.mit.edu	37	chr19	22941413	22941413	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggctgagaaacgcttaaaaGctttgccacattcttcacat	12	11	8	10	1	2	1	1	1	1	1	2	2	2	1	1	1	3	3	1	1	3	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:22941413G>T	ENST00000397104.3	-	5	1024	c.1025C>A	c.(1024-1026)gCt>gAt	p.A342D	ZNF99_ENST00000596209.1_Missense_Mutation_p.A433D					zinc finger protein 99											NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				ACGCTTAAAAGCTTTGCCACA	0.363													T	22941413	G	T	22941413	3	4	749	1	0	0	0	0	1	0	0	0	18303	971	34	4	2099	4	ZNF99	19	22941413	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	11802933	22941413	36187570	43	56475											
ZNF175	7728	broad.mit.edu	37	chr19	52091455	52091455	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttacaaatgtgggaaggcttTtgtccagaaatcagagttga	13	12	11	5	0	1	3	1	1	0	2	2	4	2	4	1	2	1	2	1	2	4	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr19:52091455T>C	ENST00000262259.2	+	5	2229	c.1871T>C	c.(1870-1872)tTt>tCt	p.F624S	ZNF175_ENST00000436511.2_Intron	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	624					response to virus	cytoplasm|intermediate filament cytoskeleton|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		GGGAAGGCTTTTGTCCAGAAA	0.423													C	52091455	T	C	52091455	3	2	749	1	0	0	0	0	1	0	0	0	17846	1841	64	3	1885	3	ZNF175	19	52091455	Missense_Mutation	SNP	T	TCGA-TM-A84H-01A-11D-A36O-08	29150042	52091455	7037528	44	56476											
NFATC2	4773	broad.mit.edu	37	chr20	50158922	50158922	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	caccgaccttcgttcggattCaaatactcatagtcgaagag	12	10	8	11	4	2	1	2	0	0	1	5	4	2	2	2	1	1	1	2	1	4	5			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:50158922C>G	ENST00000371564.3	-	1	336	c.117G>C	c.(115-117)ttG>ttC	p.L39F	NFATC2_ENST00000609943.1_Intron|NFATC2_ENST00000396009.3_Missense_Mutation_p.L39F|NFATC2_ENST00000610033.1_5'UTR|NFATC2_ENST00000414705.1_Intron|NFATC2_ENST00000609507.1_Intron	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	39					B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity		EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					CGTTCGGATTCAAATACTCAT	0.672													G	50158922	C	G	50158922	3	3	749	1	0	0	0	0	1	0	0	0	10438	825	29	4	2748	4	NFATC2	20	50158922	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		50158922	12866598	45	56477											
MYT1	4661	broad.mit.edu	37	chr20	62839165	62839168	+	Frame_Shift_Del	DEL	GCCA	GCCA	-																															aggaggctgcagagggagctGccagcgaggagggtgaaaag																										TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839165_62839168delGCCA	ENST00000536311.1	+	7	980_983	c.616_619delGCCA	c.(616-621)gccagcfs	p.AS206fs	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_Frame_Shift_Del_p.AS206fs			Q01538	MYT1_HUMAN	myelin transcription factor 1	206	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					AGAGGGAGCTGCCAGCGAGGAGGG	0.623													-	62839168	GCCA	-	62839165	7	5	749	1	0	1	0	1	0	0	0	0	10182	1319	46	0	634	0	MYT1	20	62839165	Frame_Shift_Del	DEL	GCCA	TCGA-TM-A84H-01A-11D-A36O-08	12680243	62839165	186355	46	56478											
MYT1	4661	broad.mit.edu	37	chr20	62839435	62839440	+	In_Frame_Del	DEL	GAGGAA	GAGGAA	-																															aggaggaagaggaagaggagGaggaagaggaagaggaagag																								rs143133195	byFrequency	TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62839435_62839440delGAGGAA	ENST00000536311.1	+	7	1250_1255	c.886_891delGAGGAA	c.(886-891)gaggaadel	p.EE304del	MYT1_ENST00000360149.4_Intron|MYT1_ENST00000328439.1_In_Frame_Del_p.EE304del			Q01538	MYT1_HUMAN	myelin transcription factor 1	304	Glu-rich.				cell differentiation|nervous system development	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					ggaagaggaggaggaagaggaagagg	0.587													-	62839440	GAGGAA	-	62839435	7	5	749	1	0	1	0	1	0	0	0	0	10182	1175	41	0	904	0	MYT1	20	62839435	In_Frame_Del	DEL	GAGGAA	TCGA-TM-A84H-01A-11D-A36O-08	270	62839435	186085	47	56479											
PCMTD2	55251	broad.mit.edu	37	chr20	62896749	62896749	+	Frame_Shift_Del	DEL	G	G	-																															atgaagaatcttctcaaagtGggagggatccttgtcatgcc																										TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chr20:62896749delG	ENST00000308824.6	+	4	676	c.549delG	c.(547-549)gtgfs	p.V183fs	PCMTD2_ENST00000369758.4_Frame_Shift_Del_p.V183fs|PCMTD2_ENST00000609372.1_Intron|PCMTD2_ENST00000299468.7_Frame_Shift_Del_p.V183fs	NM_018257.2	NP_060727.2	Q9NV79	PCMD2_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 2	183						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|upper_aerodigestive_tract(1)	17	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTCTCAAAGTGGGAGGGATCC	0.488													-	62896749	G	-	62896749	7	5	749	1	0	1	0	1	0	0	0	0	11663	1335	47	0	559	0	PCMTD2	20	62896749	Frame_Shift_Del	DEL	G	TCGA-TM-A84H-01A-11D-A36O-08	57314	62896749	128771	48	56480											
ZFX	7543	broad.mit.edu	37	chrX	24197760	24197760	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcactgatcctctgactacCgacgtagtttcagaagaagt	11	11	9	10	2	3	4	2	2	1	2	4	5	4	4	2	0	1	2	2	0	4	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:24197760C>T	ENST00000379177.1	+	6	946	c.519C>T	c.(517-519)acC>acT	p.T173T	ZFX_ENST00000379188.3_Silent_p.T173T|ZFX_ENST00000540034.1_Silent_p.T212T|ZFX_ENST00000539115.1_Intron|ZFX_ENST00000338565.3_Silent_p.T173T|ZFX_ENST00000304543.5_Silent_p.T173T|ZFX_ENST00000459724.1_Intron	NM_001178085.1|NM_003410.3	NP_001171556.1|NP_003401.2	P17010	ZFX_HUMAN	zinc finger protein, X-linked	173					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding			cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|prostate(1)	24						CTCTGACTACCGACGTAGTTT	0.463													T	24197760	C	T	24197760	2	4	749	1	0	0	0	0	0	0	0	1	17762	639	23	1		1	ZFX	23	24197760	Silent	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08		24197760	131072800	49	56481											
DMD	1756	broad.mit.edu	37	chrX	32459327	32459327	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagagatttcctcagctccGccaggaatgttttcagtggt	8	13	10	10	1	3	1	3	0	0	1	5	3	5	2	3	2	1	2	3	2	1	3			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:32459327G>A	ENST00000357033.4	-	28	4097	c.3891C>T	c.(3889-3891)ggC>ggT	p.G1297G	DMD_ENST00000378677.2_Silent_p.G1293G	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	1297					muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	p.G1297G(1)|p.G1292G(1)|p.G1293G(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CCTCAGCTCCGCCAGGAATGT	0.353													A	32459327	G	A	32459327	2	1	749	1	0	0	0	0	0	0	0	1	4619	1074	38	1		1	DMD	23	32459327	Silent	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	8261567	32459327	122811233	50	56482											
ACRC	93953	broad.mit.edu	37	chrX	70824520	70824520	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaccaaaaatgtatctgtgAcacctggtaagccagtcatg	15	9	8	9	0	2	1	1	1	1	0	2	1	2	1	3	1	2	2	3	1	5	2			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:70824520A>G	ENST00000373695.1	+	7	1930	c.1393A>G	c.(1393-1395)Aca>Gca	p.T465A	ACRC_ENST00000373696.3_Missense_Mutation_p.T465A			Q96QF7	ACRC_HUMAN	acidic repeat containing	465	Arg/Lys/Pro-rich.					nucleus				autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					TGTATCTGTGACACCTGGTAA	0.473													G	70824520	A	G	70824520	3	3	749	1	0	0	0	0	1	0	0	0	171	275	10	3	1419	3	ACRC	23	70824520	Missense_Mutation	SNP	A	TCGA-TM-A84H-01A-11D-A36O-08	38365193	70824520	84446040	51	56483											
BHLHB9	80823	broad.mit.edu	37	chrX	102004758	102004758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctcatgctcacagcctatcCctgagtgtcgttttgattct	6	15	8	12	1	3	2	2	2	1	0	5	2	4	2	2	0	2	3	2	0	1	4			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:102004758C>T	ENST00000372735.1	+	4	1420	c.835C>T	c.(835-837)Cct>Tct	p.P279S	BHLHB9_ENST00000361229.4_Missense_Mutation_p.P279S|BHLHB9_ENST00000448867.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000457056.1_Missense_Mutation_p.P279S|BHLHB9_ENST00000447531.1_Missense_Mutation_p.P279S			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	279						cytoplasm|nucleus	binding			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACAGCCTATCCCTGAGTGTCG	0.483													T	102004758	C	T	102004758	3	4	749	1	0	0	0	0	1	0	0	0	1426	623	22	2	837	2	BHLHB9	23	102004758	Missense_Mutation	SNP	C	TCGA-TM-A84H-01A-11D-A36O-08	31180238	102004758	53265802	52	56484											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299816	125299816	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagaggcccctctccgtccGccgccgctaaaccctgcgac	6	5	10	20	5	1	1	0	0	1	1	3	2	2	1	7	1	2	2	7	1	2	1			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:125299816G>A	ENST00000538699.1	-	2	172	c.92C>T	c.(91-93)gCg>gTg	p.A31V	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.A31V	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	31										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CTCTCCGTCCGCCGCCGCTAA	0.701													A	125299816	G	A	125299816	3	1	749	1	0	0	0	0	1	0	0	0	4299	1087	38	1	1303	1	DCAF12L2	23	125299816	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	23295058	125299816	29970744	53	56485											
F8	2157	broad.mit.edu	37	chrX	154157391	154157391	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagggaacttttccaggtctGtttgcttcattccacttaat	9	16	7	9	0	2	0	1	0	1	0	4	1	4	1	2	2	2	2	2	2	3	6			TCGA-TM-A84H-01A-11D-A36O-08	TCGA-TM-A84H-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	648641c1-7aaf-4c02-8041-5d74ecd30813	44b95acb-72e2-420f-a4fc-0225ffd6823c	g.chrX:154157391G>C	ENST00000360256.4	-	14	4874	c.4674C>G	c.(4672-4674)aaC>aaG	p.N1558K		NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	1558	B.				acute-phase response|blood coagulation, intrinsic pathway|cell adhesion|platelet activation|platelet degranulation	extracellular space|plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity|protein binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTCCAGGTCTGTTTGCTTCAT	0.493													C	154157391	G	C	154157391	3	2	749	1	0	0	0	0	1	0	0	0	5392	1368	48	4	2461	4	F8	23	154157391	Missense_Mutation	SNP	G	TCGA-TM-A84H-01A-11D-A36O-08	28857575	154157391	1113169	54	56486											
SAMD11	148398	broad.mit.edu	37	chr1	879504	879505	+	Frame_Shift_Ins	INS	-	-	C																															cttggctctacttccaggggINScccccgacccttcccagcct																										TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:879504_879505insC	ENST00000342066.3	+	14	2100_2101	c.2017_2018insC	c.(2017-2019)gccfs	p.A673fs		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	673						nucleus				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		ACTTCCAGGGGCCCCCGACCCT	0.653													C	879505	-	C	879504	7	5	750	1	0	1	1	0	0	0	0	0	13907	1203	42	0	2067	0	SAMD11	1	879504	Frame_Shift_Ins	INS	-	TCGA-TM-A84I-01A-11D-A36O-08		879504	248371117	1	56487											
SEC22B	9554	broad.mit.edu	37	chr1	145109293	145109294	+	RNA	INS	-	-	A																															actccgtctcaaaaaaaaagINSaaaaaaaaaaaccaaaaaca																								rs7364468		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:145109293_145109294insA	ENST00000453618.1	+	0	512							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										caaaaaaaaagaaaaaaaaaaa	0.431													A	145109294	-	A	145109293	6	5	750	0	1	1	1	0	0	0	0	0	14082	957	33	0		0	SEC22B	1	145109293	RNA	INS	-	TCGA-TM-A84I-01A-11D-A36O-08	144229789	145109293	104141328	2	56488											
S100A7A	338324	broad.mit.edu	37	chr1	153391722	153391726	+	Frame_Shift_Del	DEL	CATAG	CATAG	-																															tttctgtccttgctgggagaCatagccgcagactaccacaa																								rs112079848		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:153391722_153391726delCATAG	ENST00000368729.4	+	3	300_304	c.243_247delCATAG	c.(241-249)gacatagccfs	p.IA82fs	S100A7A_ENST00000368728.2_Frame_Shift_Del_p.IA82fs|S100A7A_ENST00000329256.2_Frame_Shift_Del_p.IA82fs	NM_176823.3	NP_789793.1	Q86SG5	S1A7A_HUMAN	S100 calcium binding protein A7A	82	EF-hand 2.					cytoplasm	calcium ion binding			cervix(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)|stomach(1)	12	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			TGCTGGGAGACATAGCCGCAGACTA	0.517													-	153391726	CATAG	-	153391722	7	5	750	1	0	1	0	1	0	0	0	0	13875	477	17	0	249	0	S100A7A	1	153391722	Frame_Shift_Del	DEL	CATAG	TCGA-TM-A84I-01A-11D-A36O-08	8282429	153391722	95858899	3	56489											
DPT	1805	broad.mit.edu	37	chr1	168698267	168698267	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacctgcccctggggacacTggtagctgaagccttgccgg	6	8	13	14	1	1	1	1	1	0	0	1	2	1	2	5	4	4	2	5	4	2	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr1:168698267T>C	ENST00000367817.3	-	1	235	c.146A>G	c.(145-147)cAg>cGg	p.Q49R		NM_001937.4	NP_001928.2	Q07507	DERM_HUMAN	dermatopontin	49	2 X 53-55 AA tandem repeats.				cell adhesion	extracellular space|proteinaceous extracellular matrix				kidney(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)	12	all_hematologic(923;0.208)					CTGGGGACACTGGTAGCTGAA	0.552													C	168698267	T	C	168698267	3	2	750	1	0	0	0	0	1	0	0	0	4778	1580	55	3	475	3	DPT	1	168698267	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	15306545	168698267	80552354	4	56490											
ACOXL	55289	broad.mit.edu	37	chr2	111559245	111559245	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggtctgcatggtgtggaCaatgggatattaatatttga	11	13	12	5	0	1	1	0	1	1	0	1	3	1	3	1	4	1	1	1	4	4	4			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:111559245C>A	ENST00000389811.4	+	8	788	c.564C>A	c.(562-564)gaC>gaA	p.D188E	ACOXL_ENST00000439055.1_Missense_Mutation_p.D188E|ACOXL_ENST00000340561.4_Missense_Mutation_p.D188E			Q9NUZ1	ACOXL_HUMAN	acyl-CoA oxidase-like	188					fatty acid beta-oxidation	peroxisome	acyl-CoA dehydrogenase activity|acyl-CoA oxidase activity			kidney(1)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(1)	21						ATGGTGTGGACAATGGGATAT	0.453													A	111559245	C	A	111559245	3	1	750	1	0	0	0	0	1	0	0	0	161	477	17	4	590	4	ACOXL	2	111559245	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		111559245	131640128	5	56491											
DPP4	1803	broad.mit.edu	37	chr2	162903987	162903987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagttagagtgtaagttttgCgactgtcagctgtagcatca	10	13	11	7	1	2	1	2	0	0	1	2	2	2	1	0	0	3	6	0	0	3	5			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:162903987C>T	ENST00000360534.3	-	3	679	c.119G>A	c.(118-120)cGc>cAc	p.R40H		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	40					cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Sitagliptin(DB01261)	GTAAGTTTTGCGACTGTCAGC	0.343													T	162903987	C	T	162903987	3	4	750	1	0	0	0	0	1	0	0	0	4768	768	27	1	2277	1	DPP4	2	162903987	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	51344742	162903987	80295386	6	56492											
LRP2	4036	broad.mit.edu	37	chr2	170101387	170101387	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgtcacagcgccagtgTgcaggaatgcactccccatg	8	9	11	13	2	1	0	1	0	0	0	2	1	2	1	3	1	3	3	3	1	1	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170101387T>C	ENST00000263816.3	-	22	3531	c.3246A>G	c.(3244-3246)gcA>gcG	p.A1082A	LRP2_ENST00000443831.1_Silent_p.A945A	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	1082	LDL-receptor class A 9.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	AGCGCCAGTGTGCAGGAATGC	0.507													C	170101387	T	C	170101387	2	2	750	1	0	0	0	0	0	0	0	1	9026	1683	59	3		3	LRP2	2	170101387	Silent	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	7197400	170101387	73097986	7	56493											
LRP2	4036	broad.mit.edu	37	chr2	170127551	170127551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaaccatgacatcttcctggGtagacaaggtgaacgggatc	12	8	12	9	1	1	3	0	2	1	1	3	5	2	4	2	3	2	1	2	3	4	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr2:170127551G>T	ENST00000263816.3	-	16	2468	c.2183C>A	c.(2182-2184)aCc>aAc	p.T728N	LRP2_ENST00000443831.1_Intron	NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	728					hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding			biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	ATCTTCCTGGGTAGACAAGGT	0.438													T	170127551	G	T	170127551	3	4	750	1	0	0	0	0	1	0	0	0	9026	1261	44	4	12040	4	LRP2	2	170127551	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	26164	170127551	73071822	8	56494											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	750	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	38985561	209113112	34086261	9	56495											
THUMPD3	25917	broad.mit.edu	37	chr3	9412772	9412772	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctaaaggattttgaagactTggctggaaaactcccatggt	12	12	10	7	0	1	2	0	1	1	1	2	4	2	4	1	4	1	1	1	4	5	4			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr3:9412772T>C	ENST00000345094.3	+	4	693	c.359T>C	c.(358-360)tTg>tCg	p.L120S	SETD5-AS1_ENST00000468186.1_RNA|THUMPD3_ENST00000515662.2_Missense_Mutation_p.L120S|THUMPD3_ENST00000452837.2_Missense_Mutation_p.L120S	NM_001114092.1|NM_015453.2	NP_001107564.1|NP_056268.2	Q9BV44	THUM3_HUMAN	THUMP domain containing 3	120							methyltransferase activity|protein binding|RNA binding			NS(1)|central_nervous_system(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	19	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.101)		TTTGAAGACTTGGCTGGAAAA	0.333													C	9412772	T	C	9412772	3	2	750	1	0	0	0	0	1	0	0	0	15984	1821	63	3	369	3	THUMPD3	3	9412772	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		9412772	188609658	10	56496											
OTOP1	133060	broad.mit.edu	37	chr4	4199680	4199680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctgatggctgtcaactttgCgcccgatgttcttccacagg	6	12	11	12	2	2	1	1	1	1	0	3	2	3	1	2	2	2	3	2	2	1	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:4199680C>T	ENST00000296358.4	-	5	905	c.881G>A	c.(880-882)cGc>cAc	p.R294H		NM_177998.1	NP_819056.1	Q7RTM1	OTOP1_HUMAN	otopetrin 1	294					biomineral tissue development	extracellular space|integral to membrane				NS(1)|breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|liver(4)|lung(14)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		GTCAACTTTGCGCCCGATGTT	0.562													T	4199680	C	T	4199680	3	4	750	1	0	0	0	0	1	0	0	0	11381	768	27	1	965	1	OTOP1	4	4199680	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		4199680	186954596	11	56497											
RASSF6	166824	broad.mit.edu	37	chr4	74442136	74442136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tcttgacttactttgttactAttctttgaatctctcttttc	6	23	3	9	0	4	2	0	2	4	0	6	2	4	2	0	0	2	1	0	0	4	9			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr4:74442136A>G	ENST00000307439.5	-	10	1223	c.929T>C	c.(928-930)aTa>aCa	p.I310T	RASSF6_ENST00000395777.2_Missense_Mutation_p.I276T|RASSF6_ENST00000335049.5_Missense_Mutation_p.I298T|RASSF6_ENST00000342081.3_Missense_Mutation_p.I342T	NM_001270391.1|NM_177532.4	NP_001257320.1|NP_803876.1	Q6ZTQ3	RASF6_HUMAN	Ras association (RalGDS/AF-6) domain family member 6	342					apoptosis|signal transduction		protein binding			breast(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|pancreas(2)|skin(2)	17	Breast(15;0.00102)		all cancers(17;0.00104)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			CTTTGTTACTATTCTTTGAAT	0.328													G	74442136	A	G	74442136	3	3	750	1	0	0	0	0	1	0	0	0	13178	449	16	3	92	3	RASSF6	4	74442136	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08	70242456	74442136	116712140	12	56498											
ZDHHC11	79844	broad.mit.edu	37	chr5	843744	843744	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggggtccgtgcggagcaccCcggggttcacgaggtactgg	5	7	18	11	4	1	0	1	0	0	0	2	2	2	1	3	7	3	3	3	7	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:843744C>A	ENST00000283441.8	-	4	982	c.599G>T	c.(598-600)gGg>gTg	p.G200V	ZDHHC11_ENST00000511539.1_5'UTR|ZDHHC11_ENST00000424784.2_Missense_Mutation_p.G200V	NM_024786.2	NP_079062.1	Q9H8X9	ZDH11_HUMAN	zinc finger, DHHC-type containing 11	200						integral to membrane	acyltransferase activity|zinc ion binding			haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(10)|pancreas(1)|prostate(5)|skin(2)|urinary_tract(1)	21			Epithelial(17;0.000445)|all cancers(22;0.00176)|OV - Ovarian serous cystadenocarcinoma(19;0.00227)|Lung(60;0.0863)			GCGGAGCACCCCGGGGTTCAC	0.637													A	843744	C	A	843744	3	1	750	1	0	0	0	0	1	0	0	0	17702	623	22	4	675	4	ZDHHC11	5	843744	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		843744	180071516	13	56499											
SH3TC2	79628	broad.mit.edu	37	chr5	148407349	148407349	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagggcaggacctcctcgTgccggcctaggctcaggagc	8	5	14	14	2	1	0	1	0	0	0	3	2	2	2	4	5	2	2	4	5	2	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr5:148407349T>C	ENST00000538184.1	-	7	1475	c.587A>G	c.(586-588)cAc>cGc	p.H196R	SH3TC2_ENST00000515425.1_Missense_Mutation_p.H649R|SH3TC2_ENST00000512049.1_Missense_Mutation_p.H642R|SH3TC2_ENST00000394358.2_Missense_Mutation_p.H534R			Q8TF17	S3TC2_HUMAN	SH3 domain and tetratricopeptide repeats 2	649							binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(12)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACCTCCTCGTGCCGGCCTAG	0.642													C	148407349	T	C	148407349	3	2	750	1	0	0	0	0	1	0	0	0	14356	1696	59	3	1948	3	SH3TC2	5	148407349	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	147563605	148407349	32507911	14	56500											
NUP153	9972	broad.mit.edu	37	chr6	17675524	17675524	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagctggtggcagtgtgcTgtgagagtgagtgagaacgt	8	11	18	4	1	0	4	0	4	0	2	0	6	0	4	0	2	3	3	0	2	1	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:17675524T>C	ENST00000262077.2	-	4	658	c.659A>G	c.(658-660)cAg>cGg	p.Q220R	NUP153_ENST00000537253.1_Missense_Mutation_p.Q220R	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	220					carbohydrate metabolic process|glucose transport|interspecies interaction between organisms|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleolus|nucleoplasm	DNA binding|protein binding|transporter activity|zinc ion binding			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GGCAGTGTGCTGTGAGAGTGA	0.418													C	17675524	T	C	17675524	3	2	750	1	0	0	0	0	1	0	0	0	10831	1580	55	3	3844	3	NUP153	6	17675524	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		17675524	153439543	15	56501											
HIST1H2AL	8332	broad.mit.edu	37	chr6	27833185	27833185	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgcgccaaagccaagacccGctcttctcgtgccggtctcc	6	8	9	18	5	3	1	0	0	3	1	6	1	3	1	5	1	2	1	5	1	2	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:27833185G>C	ENST00000357320.2	+	1	152	c.53G>C	c.(52-54)cGc>cCc	p.R18P		NM_003511.2	NP_003502.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2al	18					nucleosome assembly	nucleosome|nucleus	DNA binding|enzyme binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|urinary_tract(2)	9						GCCAAGACCCGCTCTTCTCGT	0.632													C	27833185	G	C	27833185	3	2	750	1	0	0	0	0	1	0	0	0	7193	1087	38	4	55	4	HIST1H2AL	6	27833185	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	10157661	27833185	143281882	16	56502											
TNXB	7148	broad.mit.edu	37	chr6	32036883	32036883	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgctggaggggtcggggccGtggtctcagtttccgtttct	2	12	17	10	4	2	0	1	0	2	0	5	1	3	1	2	6	0	3	2	6	0	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr6:32036883G>A	ENST00000375244.3	-	16	5819	c.5618C>T	c.(5617-5619)aCg>aTg	p.T1873M	TNXB_ENST00000375247.2_Missense_Mutation_p.T1873M			P22105	TENX_HUMAN	tenascin XB	1955	Fibronectin type-III 11.				actin cytoskeleton organization|cell adhesion|collagen metabolic process|elastic fiber assembly|signal transduction	extracellular space|intracellular|proteinaceous extracellular matrix	heparin binding|integrin binding			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	8						GGTCGGGGCCGTGGTCTCAGT	0.622													A	32036883	G	A	32036883	3	1	750	1	0	0	0	0	1	0	0	0	16446	1145	40	1	9211	1	TNXB	6	32036883	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	4203698	32036883	139078184	17	56503											
SGCE	8910	broad.mit.edu	37	chr7	94259039	94259039	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caaagaacataccaggttttGggtaaggtggaaattccccc	13	9	10	9	0	0	1	0	0	0	1	1	2	1	2	3	4	2	2	3	4	5	5			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:94259039G>C	ENST00000415788.2	-	3	419	c.332C>G	c.(331-333)cCa>cGa	p.P111R	SGCE_ENST00000445866.2_Missense_Mutation_p.P75R|SGCE_ENST00000447873.1_Missense_Mutation_p.P75R|SGCE_ENST00000437425.2_Intron|SGCE_ENST00000265735.7_Missense_Mutation_p.P75R|SGCE_ENST00000428696.2_Missense_Mutation_p.P75R			O43556	SGCE_HUMAN	sarcoglycan, epsilon	75					cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			ACCAGGTTTTGGGTAAGGTGG	0.333													C	94259039	G	C	94259039	3	2	750	1	0	0	0	0	1	0	0	0	14295	1348	47	4	1281	4	SGCE	7	94259039	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		94259039	64879624	18	56504											
SLC12A9	56996	broad.mit.edu	37	chr7	100463503	100463504	+	Frame_Shift_Ins	INS	-	-	C																															cctccccgggctcctgggagINScccccgggccctcaatcccc																								rs149306595	byFrequency	TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:100463503_100463504insC	ENST00000354161.3	+	14	2146_2147	c.2021_2022insC	c.(2020-2025)agccccfs	p.SP674fs		NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	674						integral to membrane|plasma membrane	cation:chloride symporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					GCTCCTGGGAGCCCCCGGGCCC	0.678													C	100463504	-	C	100463503	7	5	750	1	0	1	1	0	0	0	0	0	14484	971	34	0	2071	0	SLC12A9	7	100463503	Frame_Shift_Ins	INS	-	TCGA-TM-A84I-01A-11D-A36O-08	6204464	100463503	58675160	19	56505											
OR2A5	393046	broad.mit.edu	37	chr7	143748010	143748010	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcccttctgtgggccccaTgaaatcaaccacttcttctg	7	12	7	15	0	4	1	1	1	3	0	4	1	4	1	4	1	2	0	4	1	2	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr7:143748010T>A	ENST00000408906.2	+	1	550	c.516T>A	c.(514-516)caT>caA	p.H172Q		NM_012365.1	NP_036497.1	Q96R48	OR2A5_HUMAN	olfactory receptor, family 2, subfamily A, member 5	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|large_intestine(5)|lung(23)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	38	Melanoma(164;0.0783)					GTGGGCCCCATGAAATCAACC	0.542													A	143748010	T	A	143748010	3	1	750	1	0	0	0	0	1	0	0	0	11057	1461	51	5	518	5	OR2A5	7	143748010	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	43284507	143748010	15390653	20	56506											
PRKDC	5591	broad.mit.edu	37	chr8	48697720	48697720	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aactccactttgaagtcgctCatccagggtgaacattcttt	10	13	7	11	1	2	2	1	2	1	0	5	2	4	2	2	1	2	1	2	1	3	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:48697720C>G	ENST00000314191.2	-	78	11114	c.11058G>C	c.(11056-11058)atG>atC	p.M3686I	PRKDC_ENST00000338368.3_Missense_Mutation_p.M3686I|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	3687					cellular response to insulin stimulus|double-strand break repair via nonhomologous end joining|peptidyl-serine phosphorylation|positive regulation of transcription from RNA polymerase II promoter	DNA-dependent protein kinase-DNA ligase 4 complex|transcription factor complex	ATP binding|DNA binding|DNA-dependent protein kinase activity|transcription factor binding			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)				TGAAGTCGCTCATCCAGGGTG	0.458								Non-homologous end-joining					G	48697720	C	G	48697720	3	3	750	1	0	0	0	0	1	0	0	0	12607	826	29	4	1365	4	PRKDC	8	48697720	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		48697720	97666302	21	56507											
VPS13B	157680	broad.mit.edu	37	chr8	100533211	100533211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggctgacaatccccttggcaGatctgtccttaggaaagata	11	10	10	10	0	1	3	0	1	1	2	3	4	3	4	3	3	0	2	3	3	4	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr8:100533211G>A	ENST00000358544.2	+	30	4904	c.4793G>A	c.(4792-4794)aGa>aAa	p.R1598K	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.R1573K	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1598					protein transport					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCCCTTGGCAGATCTGTCCTT	0.403													A	100533211	G	A	100533211	3	1	750	1	0	0	0	0	1	0	0	0	17292	942	33	2	5101	2	VPS13B	8	100533211	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	51835491	100533211	45830811	22	56508											
TEK	7010	broad.mit.edu	37	chr9	27157891	27157891	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacctcttgtatctgatgctGaaacatctctcacctgcatt	9	15	5	12	0	4	2	1	2	3	0	5	2	4	2	2	0	4	3	2	0	3	4			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:27157891G>A	ENST00000380036.4	+	2	557	c.115G>A	c.(115-117)Gaa>Aaa	p.E39K	TEK_ENST00000406359.4_Missense_Mutation_p.E39K|TEK_ENST00000519097.1_Intron	NM_000459.3	NP_000450	Q02763	TIE2_HUMAN	TEK tyrosine kinase, endothelial	39					angiogenesis|blood coagulation|cell-cell signaling|leukocyte migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein kinase B signaling cascade|protein oligomerization|transmembrane receptor protein tyrosine kinase signaling pathway	apical plasma membrane|basolateral plasma membrane|cell surface|integral to plasma membrane|membrane raft|microvillus	ATP binding|protein binding|transmembrane receptor protein tyrosine kinase activity			breast(3)|central_nervous_system(3)|kidney(1)|lung(2)|ovary(3)|skin(3)	15		all_neural(11;7.57e-10)|Myeloproliferative disorder(762;0.0255)		Lung(218;4.08e-05)|LUSC - Lung squamous cell carcinoma(38;0.00027)		ATCTGATGCTGAAACATCTCT	0.478													A	27157891	G	A	27157891	3	1	750	1	0	0	0	0	1	0	0	0	15851	1291	45	2	121	2	TEK	9	27157891	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		27157891	114055540	23	56509											
AQP7	364	broad.mit.edu	37	chr9	33385821	33385821	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggttgttctcctggtccGtgatggcgaagagacacagc	7	10	14	10	2	1	2	0	1	1	1	3	4	2	2	2	3	1	2	2	3	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:33385821G>A	ENST00000537089.1	-	6	611	c.293C>T	c.(292-294)aCg>aTg	p.T98M	AQP7_ENST00000377425.4_Missense_Mutation_p.T133M|AQP7_ENST00000541274.1_Silent_p.H58H|AQP7_ENST00000539936.1_Missense_Mutation_p.T190M			O14520	AQP7_HUMAN	aquaporin 7	190					excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CTCCTGGTCCGTGATGGCGAA	0.612													A	33385821	G	A	33385821	3	1	750	1	0	0	0	0	1	0	0	0	834	1145	40	1	467	1	AQP7	9	33385821	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	6227930	33385821	107827610	24	56510											
CD72	971	broad.mit.edu	37	chr9	35616134	35616134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagtgcttcctgactctgcGccagctctctcctggacccc	4	11	9	17	1	2	1	0	1	2	0	5	2	4	2	5	1	3	3	5	1	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:35616134G>A	ENST00000396757.1	-	6	658	c.494C>T	c.(493-495)gCg>gTg	p.A165V	CD72_ENST00000259633.4_Missense_Mutation_p.A165V|CD72_ENST00000490239.1_5'UTR			P21854	CD72_HUMAN	CD72 molecule	165					axon guidance|cell adhesion	integral to plasma membrane	receptor binding|sugar binding|transmembrane receptor activity			large_intestine(5)|liver(1)|lung(6)	12			Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CTGACTCTGCGCCAGCTCTCT	0.607													A	35616134	G	A	35616134	3	1	750	1	0	0	0	0	1	0	0	0	3064	1087	38	1	601	1	CD72	9	35616134	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	2230313	35616134	105597297	25	56511											
GPR21	2844	broad.mit.edu	37	chr9	125797418	125797418	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggcacaccgactcctacttCaccctgttcatcgtgatgat	8	12	7	14	2	2	2	2	2	0	0	4	3	3	2	3	1	1	2	3	1	1	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr9:125797418C>T	ENST00000373642.1	+	1	613	c.573C>T	c.(571-573)ttC>ttT	p.F191F	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000373643.5_Intron|RABGAP1_ENST00000493854.1_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	191						integral to plasma membrane	G-protein coupled receptor activity			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						ACTCCTACTTCACCCTGTTCA	0.502													T	125797418	C	T	125797418	2	4	750	1	0	0	0	0	0	0	0	1	6735	825	29	2		2	GPR21	9	125797418	Silent	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	90181284	125797418	15416013	26	56512											
PPP2R5B	5526	broad.mit.edu	37	chr11	64699330	64699330	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ggctcgctgtgtttccagccCccatttccaggtatgaggca	6	11	11	13	1	0	1	0	1	0	0	3	1	2	1	4	3	1	5	4	3	1	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr11:64699330C>T	ENST00000164133.2	+	11	1728	c.1106C>T	c.(1105-1107)cCc>cTc	p.P369L		NM_006244.3	NP_006235.1	Q15173	2A5B_HUMAN	protein phosphatase 2, regulatory subunit B', beta	369					signal transduction	cytoplasm|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity			central_nervous_system(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(2)	21						GTTTCCAGCCCCCATTTCCAG	0.557													T	64699330	C	T	64699330	3	4	750	1	0	0	0	0	1	0	0	0	12475	623	22	2	1144	2	PPP2R5B	11	64699330	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		64699330	70307186	27	56513											
SCNN1A	6337	broad.mit.edu	37	chr12	6457372	6457372	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acagacaacaccgaggagccGaaccacaggctccactggct	13	3	10	15	2	0	1	0	0	0	1	1	4	1	2	4	3	3	2	4	3	2	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:6457372G>A	ENST00000358945.3	-	13	2183	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F	SCNN1A_ENST00000360168.3_Silent_p.F618F|SCNN1A_ENST00000396966.2_3'UTR|SCNN1A_ENST00000228916.2_Silent_p.F559F|SCNN1A_ENST00000540037.1_Silent_p.F259F|SCNN1A_ENST00000543768.1_Silent_p.F582F			P37088	SCNNA_HUMAN	sodium channel, non-voltage-gated 1 alpha subunit	559					excretion|response to stimulus|sensory perception of taste	apical plasma membrane	WW domain binding			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(2)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	27					Amiloride(DB00594)|Triamterene(DB00384)	CCGAGGAGCCGAACCACAGGC	0.567													A	6457372	G	A	6457372	2	1	750	1	0	0	0	0	0	0	0	1	14020	1049	37	1		1	SCNN1A	12	6457372	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		6457372	127394523	28	56514											
CD163L1	283316	broad.mit.edu	37	chr12	7522118	7522118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtccctcagggcagccagagCagagccacagcccagctgct	9	4	12	16	0	1	2	1	0	0	2	2	2	2	2	4	1	6	4	4	1	0	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:7522118C>A	ENST00000313599.3	-	15	3931	c.3874G>T	c.(3874-3876)Gct>Tct	p.A1292S	CD163L1_ENST00000416109.2_Missense_Mutation_p.A1302S|CD163L1_ENST00000396630.1_Missense_Mutation_p.A1292S			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1292	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GCAGCCAGAGCAGAGCCACAG	0.592													A	7522118	C	A	7522118	3	1	750	1	0	0	0	0	1	0	0	0	2998	710	25	4	507	4	CD163L1	12	7522118	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	1064746	7522118	126329777	29	56515											
KRT83	3889	broad.mit.edu	37	chr12	52715004	52715004	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccgcggtagcaggagatgCcgcggtagggggcggcggtg	5	4	23	9	6	0	1	0	0	0	1	0	2	0	1	2	8	2	3	2	8	2	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:52715004C>T	ENST00000293670.3	-	1	178	c.116G>A	c.(115-117)gGc>gAc	p.G39D		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	39	Head.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		GCAGGAGATGCCGCGGTAGGG	0.706													T	52715004	C	T	52715004	3	4	750	1	0	0	0	0	1	0	0	0	8555	739	26	2	1401	2	KRT83	12	52715004	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	45192886	52715004	81136891	30	56516											
LRP1	4035	broad.mit.edu	37	chr12	57552234	57552234	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ggcaagggccggccaggcatCatccggggcatggatatggg	8	5	18	10	2	1	0	1	0	0	0	2	1	2	1	3	8	0	3	3	8	2	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552234C>T	ENST00000243077.3	+	11	2077	c.1611C>T	c.(1609-1611)atC>atT	p.I537I		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	537					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GGCCAGGCATCATCCGGGGCA	0.592													T	57552234	C	T	57552234	2	4	750	1	0	0	0	0	0	0	0	1	9021	816	29	2		2	LRP1	12	57552234	Silent	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	4837230	57552234	76299661	31	56517											
LRP1	4035	broad.mit.edu	37	chr12	57552342	57552342	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacgctgagaccggcttcatCtactttgccgacaccaccag	9	8	8	16	3	2	1	1	1	1	1	2	3	2	1	4	1	2	2	4	1	1	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:57552342C>G	ENST00000243077.3	+	11	2185	c.1719C>G	c.(1717-1719)atC>atG	p.I573M		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	573					aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	CCGGCTTCATCTACTTTGCCG	0.577													G	57552342	C	G	57552342	3	3	750	1	0	0	0	0	1	0	0	0	9021	903	32	4	1761	4	LRP1	12	57552342	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	108	57552342	76299553	32	56518											
RIMBP2	23504	broad.mit.edu	37	chr12	130919378	130919378	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcctcctcgtctgaggcggcGtactgccccgcgctgcttct	2	11	11	17	5	2	1	0	1	2	0	5	1	4	1	4	2	3	3	4	2	1	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr12:130919378G>A	ENST00000261655.4	-	11	2266	c.2103C>T	c.(2101-2103)taC>taT	p.Y701Y	RIMBP2_ENST00000535703.1_Silent_p.Y609Y|RIMBP2_ENST00000536002.1_Silent_p.Y609Y	NM_015347.4	NP_056162.4	O15034	RIMB2_HUMAN	RIMS binding protein 2	701						cell junction|synapse				NS(2)|breast(1)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(33)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(5)|urinary_tract(1)	96	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.213)		OV - Ovarian serous cystadenocarcinoma(86;4.29e-06)|all cancers(50;4.56e-05)|Epithelial(86;5.41e-05)		CTGAGGCGGCGTACTGCCCCG	0.587													A	130919378	G	A	130919378	2	1	750	1	0	0	0	0	0	0	0	1	13452	1140	40	1		1	RIMBP2	12	130919378	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	73367036	130919378	2932517	33	56519											
PRKCH	5583	broad.mit.edu	37	chr14	62014587	62014587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	accatcgccaaatagaaccgCctttcagacccagaatcgta	14	7	6	14	3	1	3	1	0	0	3	3	3	1	3	5	0	1	1	5	0	5	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr14:62014587C>T	ENST00000332981.5	+	13	2273	c.1888C>T	c.(1888-1890)Cct>Tct	p.P630S	RP11-47I22.4_ENST00000556347.1_Silent_p.R134R|PRKCH_ENST00000555082.1_Missense_Mutation_p.P469S|PRKCH_ENST00000556245.1_3'UTR	NM_006255.3	NP_006246.2	P24723	KPCL_HUMAN	protein kinase C, eta	630	AGC-kinase C-terminal.				intracellular signal transduction|platelet activation	cytosol|plasma membrane	ATP binding|enzyme binding|metal ion binding|protein kinase C activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(4)|ovary(2)|pancreas(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	25				OV - Ovarian serous cystadenocarcinoma(108;0.045)|BRCA - Breast invasive adenocarcinoma(234;0.0906)|KIRC - Kidney renal clear cell carcinoma(182;0.182)		AATAGAACCGCCTTTCAGACC	0.517													T	62014587	C	T	62014587	3	4	750	1	0	0	0	0	1	0	0	0	12599	739	26	2	1938	2	PRKCH	14	62014587	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08		62014587	45334953	34	56520											
MKL2	57496	broad.mit.edu	37	chr16	14340397	14340397	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcaccaaaccggacctcaTtgagcgcctaaaaccctacc	13	5	7	16	2	1	1	1	1	0	0	1	2	1	2	6	2	4	1	6	2	4	3			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr16:14340397T>C	ENST00000571589.1	+	12	1452	c.1280T>C	c.(1279-1281)aTt>aCt	p.I427T	MKL2_ENST00000341243.5_Missense_Mutation_p.I416T|MKL2_ENST00000318282.5_Missense_Mutation_p.I427T|MKL2_ENST00000574045.1_Missense_Mutation_p.I427T	NM_014048.3	NP_054767.3	Q9ULH7	MKL2_HUMAN	MKL/myocardin-like 2	416					cell differentiation|muscle organ development|positive regulation of striated muscle tissue development|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		identical protein binding|nucleic acid binding|transcription coactivator activity			breast(3)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(6)|liver(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						CCGGACCTCATTGAGCGCCTA	0.507													C	14340397	T	C	14340397	3	2	750	1	0	0	0	0	1	0	0	0	9677	1493	52	3	1318	3	MKL2	16	14340397	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08		14340397	76014356	35	56521											
ALOX15	246	broad.mit.edu	37	chr17	4540428	4540428	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acctggatgaccatgggcaaGagtttcccatcaggctgcaa	11	8	11	11	0	1	2	1	1	0	1	2	3	2	3	3	3	1	4	3	3	2	1			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:4540428G>A	ENST00000570836.1	-	8	1029	c.933C>T	c.(931-933)ctC>ctT	p.L311L	ALOX15_ENST00000545513.1_Silent_p.L333L|ALOX15_ENST00000574640.1_Silent_p.L272L|ALOX15_ENST00000293761.3_Silent_p.L311L			P16050	LOX15_HUMAN	arachidonate 15-lipoxygenase	311	Lipoxygenase.				inflammatory response|leukotriene biosynthetic process	nucleus	arachidonate 15-lipoxygenase activity|iron ion binding|lipoxygenase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(5)	20				READ - Rectum adenocarcinoma(115;0.0327)	Ciclopirox(DB01188)|Masoprocol(DB00179)|Zileuton(DB00744)	CCATGGGCAAGAGTTTCCCAT	0.522													A	4540428	G	A	4540428	2	1	750	1	0	0	0	0	0	0	0	1	538	929	33	2		2	ALOX15	17	4540428	Silent	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		4540428	76654782	36	56522											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron	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	0.557		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)			C	7578190	T	C	7578190	3	2	750	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-TM-A84I-01A-11D-A36O-08	3037762	7578190	73617020	37	56523											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	750	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	216	7578406	73616804	38	56524											
GALNT1	2589	broad.mit.edu	37	chr18	33243711	33243711	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaatcaatcagttcaatttaAtggcaagtgagatgattgca	16	12	8	5	0	3	2	3	2	0	1	3	3	3	2	0	1	1	3	0	1	5	4			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr18:33243711A>G	ENST00000269195.5	+	2	362	c.259A>G	c.(259-261)Atg>Gtg	p.M87V	GALNT1_ENST00000591081.1_Missense_Mutation_p.M87V|GALNT1_ENST00000537549.1_Missense_Mutation_p.M27V	NM_020474.3	NP_065207.2	Q10472	GALT1_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 1 (GalNAc-T1)	87					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	extracellular region|Golgi cisterna membrane|integral to membrane|perinuclear region of cytoplasm	manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(4)|stomach(1)	21						GTTCAATTTAATGGCAAGTGA	0.378													G	33243711	A	G	33243711	3	3	750	1	0	0	0	0	1	0	0	0	6261	101	4	3	265	3	GALNT1	18	33243711	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08		33243711	44833537	39	56525											
AP1M2	10053	broad.mit.edu	37	chr19	10685148	10685148	+	Frame_Shift_Del	DEL	A	A	-																															gcctggtaaccacttttctcAatgatcttcatgtatcggac																										TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:10685148delA	ENST00000590923.1	-	11	1283	c.1200delT	c.(1198-1200)attfs	p.I400fs	AP1M2_ENST00000250244.6_Frame_Shift_Del_p.I398fs			Q9Y6Q5	AP1M2_HUMAN	adaptor-related protein complex 1, mu 2 subunit	398	MHD.				cellular membrane organization|post-Golgi vesicle-mediated transport|protein targeting|regulation of defense response to virus by virus|vesicle targeting|viral reproduction	clathrin adaptor complex|clathrin coated vesicle membrane|cytosol|Golgi membrane|lysosomal membrane	protein binding			endometrium(4)|large_intestine(1)|lung(1)|ovary(2)|urinary_tract(1)	9			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			CACTTTTCTCAATGATCTTCA	0.582													-	10685148	A	-	10685148	7	5	750	1	0	1	0	1	0	0	0	0	737	126	5	0	85	0	AP1M2	19	10685148	Frame_Shift_Del	DEL	A	TCGA-TM-A84I-01A-11D-A36O-08		10685148	48443835	40	56526											
CYP2A13	1553	broad.mit.edu	37	chr19	41601812	41601812	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtgggctttgccacgatccCacgaaactacaccatgagct	10	8	9	14	3	0	1	0	1	0	0	1	3	1	1	3	1	4	2	3	1	2	2			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr19:41601812C>A	ENST00000330436.3	+	9	1451	c.1451C>A	c.(1450-1452)cCa>cAa	p.P484Q		NM_000766.4	NP_000757.2	Q16696	CP2AD_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 13	484					xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|coumarin 7-hydroxylase activity|electron carrier activity|heme binding			breast(3)|endometrium(6)|kidney(4)|large_intestine(8)|lung(13)|ovary(3)|prostate(3)|skin(2)	42					Clomipramine(DB01242)|Nicotine(DB00184)	GCCACGATCCCACGAAACTAC	0.632													A	41601812	C	A	41601812	3	1	750	1	0	0	0	0	1	0	0	0	4194	594	21	4	1485	4	CYP2A13	19	41601812	Missense_Mutation	SNP	C	TCGA-TM-A84I-01A-11D-A36O-08	30916664	41601812	17527171	41	56527											
WFDC8	90199	broad.mit.edu	37	chr20	44184381	44184381	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggcatcctcatttaagAagttgttggcattcccttcg	8	14	9	10	1	1	1	1	0	0	1	4	1	3	1	2	2	1	5	2	2	2	6			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr20:44184381A>T	ENST00000357199.4	-	4	482	c.404T>A	c.(403-405)tTc>tAc	p.F135Y	WFDC8_ENST00000289953.2_Missense_Mutation_p.F135Y	NM_181510.2	NP_852611.2	Q8IUA0	WFDC8_HUMAN	WAP four-disulfide core domain 8	135	BPTI/Kunitz inhibitor.					extracellular region	serine-type endopeptidase inhibitor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(4)|stomach(1)|upper_aerodigestive_tract(1)	15		Myeloproliferative disorder(115;0.0122)				CTCATTTAAGAAGTTGTTGGC	0.443													T	44184381	A	T	44184381	3	4	750	1	0	0	0	0	1	0	0	0	17458	246	9	5	333	5	WFDC8	20	44184381	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08		44184381	18841139	42	56528											
SEC14L4	284904	broad.mit.edu	37	chr22	30890140	30890140	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccggtcatgggcttacctcGaataacaattaaattcttca	12	12	6	11	2	3	0	2	0	1	0	4	1	3	0	2	2	2	1	2	2	6	5	rs141785416		TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:30890140G>A	ENST00000392772.2	-	7	692	c.415C>T	c.(415-417)Cga>Tga	p.R139*	SEC14L4_ENST00000540456.1_Nonsense_Mutation_p.R178*|SEC14L4_ENST00000255858.7_Nonsense_Mutation_p.R193*|SEC14L4_ENST00000381982.3_Nonsense_Mutation_p.R193*			Q9UDX3	S14L4_HUMAN	SEC14-like 4 (S. cerevisiae)	193	CRAL-TRIO.					integral to membrane|intracellular	lipid binding|transporter activity	p.R193*(1)		breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(5)|pancreas(1)|skin(1)	21					Vitamin E(DB00163)	GGCTTACCTCGAATAACAATT	0.483													A	30890140	G	A	30890140	4	1	750	1	0	0	0	0	0	1	0	0	14077	1066	37	1	673	1	SEC14L4	22	30890140	Nonsense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08		30890140	20414426	43	56529											
ANKRD54	129138	broad.mit.edu	37	chr22	38227984	38227984	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctctgcatctgcagactgAgggaggtgaagctggccagg	8	8	16	9	0	2	3	0	2	2	1	2	4	2	4	1	4	4	4	1	4	1	0			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chr22:38227984A>G	ENST00000215941.4	-	8	1061	c.869T>C	c.(868-870)cTc>cCc	p.L290P	ANKRD54_ENST00000411961.2_Missense_Mutation_p.L274P|ANKRD54_ENST00000498417.1_5'UTR|ANKRD54_ENST00000406423.1_Missense_Mutation_p.L170P|ANKRD54_ENST00000609454.1_Missense_Mutation_p.L97P	NM_138797.2	NP_620152.1	Q6NXT1	ANR54_HUMAN	ankyrin repeat domain 54	290										lung(1)	1	Melanoma(58;0.045)					CTGCAGACTGAGGGAGGTGAA	0.602													G	38227984	A	G	38227984	3	3	750	1	0	0	0	0	1	0	0	0	680	304	11	3	37	3	ANKRD54	22	38227984	Missense_Mutation	SNP	A	TCGA-TM-A84I-01A-11D-A36O-08	7337844	38227984	13076582	44	56530											
ATRX	546	broad.mit.edu	37	chrX	76920170	76920173	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															ttcttcattttgttttccagTtctttttttcccttcttctg																										TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:76920170_76920173delTTCT	ENST00000373344.5	-	11	4118_4121	c.3904_3907delAGAA	c.(3904-3909)agaactfs	p.RT1302fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.RT1264fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1302					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.R1302fs*7(1)|p.?(1)|p.R1302fs*44(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)	TGTTTTCCAGTTCTTTTTTTCCCT	0.377			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76920173	TTCT	-	76920170	7	5	750	1	0	1	0	1	0	0	0	0	1213	1725	60	0	3671	0	ATRX	23	76920170	Frame_Shift_Del	DEL	TTCT	TCGA-TM-A84I-01A-11D-A36O-08		76920170	78350390	45	56531											
SATL1	340562	broad.mit.edu	37	chrX	84362924	84362924	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gcttggggctcgttgcggtgGacctggttggcttatgcttg	2	14	17	8	2	0	0	0	0	0	0	1	1	0	1	1	6	2	6	1	6	1	5			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:84362924G>C	ENST00000509231.1	-	1	1130	c.1051C>G	c.(1051-1053)Cca>Gca	p.P351A	SATL1_ENST00000395409.3_Missense_Mutation_p.P164A|SATL1_ENST00000332921.5_Missense_Mutation_p.P164A			Q86VE3	SATL1_HUMAN	spermidine/spermine N1-acetyl transferase-like 1	164	N-acetyltransferase.						N-acetyltransferase activity			NS(1)|breast(5)|endometrium(2)|large_intestine(3)|lung(13)|skin(3)|stomach(1)|urinary_tract(1)	29						CGTTGCGGTGGACCTGGTTGG	0.542													C	84362924	G	C	84362924	3	2	750	1	0	0	0	0	1	0	0	0	13947	1174	41	4	867	4	SATL1	23	84362924	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	7442754	84362924	70907636	46	56532											
NXF3	56000	broad.mit.edu	37	chrX	102339304	102339304	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctccctaaggtcccatccGgcatgttcccctccattctt	6	12	6	17	1	1	0	0	0	1	0	6	0	6	0	6	2	1	3	6	2	1	4			TCGA-TM-A84I-01A-11D-A36O-08	TCGA-TM-A84I-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b7095e40-74eb-4208-bc64-b2e977c95224	3f955092-ccb9-4616-b97b-d03c9d818f3c	g.chrX:102339304G>A	ENST00000395065.3	-	3	418	c.317C>T	c.(316-318)cCg>cTg	p.P106L	NXF3_ENST00000425463.2_Missense_Mutation_p.P17L|NXF3_ENST00000425644.1_5'UTR	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	106						cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GGTCCCATCCGGCATGTTCCC	0.473													A	102339304	G	A	102339304	3	1	750	1	0	0	0	0	1	0	0	0	10861	1116	39	1	1346	1	NXF3	23	102339304	Missense_Mutation	SNP	G	TCGA-TM-A84I-01A-11D-A36O-08	17976380	102339304	52931256	47	56533											
IPP	3652	broad.mit.edu	37	chr1	46179946	46179946	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaatatttttctacagtaTgaagagcatcttgggtctca	12	14	9	6	0	3	2	1	1	3	1	4	3	3	3	0	2	2	2	0	2	5	6			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:46179946T>C	ENST00000396478.3	-	8	1604	c.1502A>G	c.(1501-1503)cAt>cGt	p.H501R		NM_005897.2	NP_005888.1	Q9Y573	IPP_HUMAN	intracisternal A particle-promoted polypeptide	501						actin cytoskeleton|cytoplasm	actin binding			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(6)|lung(5)|ovary(1)|stomach(2)	20	Acute lymphoblastic leukemia(166;0.155)					TTCTACAGTATGAAGAGCATC	0.408													C	46179946	T	C	46179946	3	2	751	1	0	0	0	0	1	0	0	0	7858	1464	51	3	362	3	IPP	1	46179946	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		46179946	203070675	1	56534											
CYP4A22	284541	broad.mit.edu	37	chr1	47608994	47608994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctggaggtctttcagcaCgtctccttgatgaccctgga	6	12	10	13	1	4	2	1	2	3	0	5	4	4	4	3	3	1	1	3	3	0	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:47608994C>T	ENST00000371891.3	+	5	595	c.564C>T	c.(562-564)caC>caT	p.H188H	CYP4A22_ENST00000371890.3_Silent_p.H188H|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000294337.3_Silent_p.H188H	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	188						endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TCTTTCAGCACGTCTCCTTGA	0.567													T	47608994	C	T	47608994	2	4	751	1	0	0	0	0	0	0	0	1	4217	535	19	1		1	CYP4A22	1	47608994	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	1429048	47608994	201641627	2	56535											
LPHN2	23266	broad.mit.edu	37	chr1	82421687	82421687	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggaagaaggagcttttGtcctagctgacaatctttta	11	14	9	7	0	1	2	0	1	1	1	2	4	2	4	1	2	2	2	1	2	5	6			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:82421687G>T	ENST00000370728.1	+	13	2593	c.1948G>T	c.(1948-1950)Gtc>Ttc	p.V650F	LPHN2_ENST00000370730.1_Missense_Mutation_p.V650F|LPHN2_ENST00000319517.6_Missense_Mutation_p.V637F|LPHN2_ENST00000370715.1_Missense_Mutation_p.V637F|LPHN2_ENST00000469377.2_Intron|LPHN2_ENST00000271029.4_Missense_Mutation_p.V650F|LPHN2_ENST00000359929.3_Missense_Mutation_p.V637F|LPHN2_ENST00000370713.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370727.1_Missense_Mutation_p.V650F|LPHN2_ENST00000335786.5_Missense_Mutation_p.V650F|LPHN2_ENST00000370725.1_Missense_Mutation_p.V650F|LPHN2_ENST00000394879.1_Missense_Mutation_p.V637F|LPHN2_ENST00000370717.2_Missense_Mutation_p.V650F|LPHN2_ENST00000370721.1_Missense_Mutation_p.V575F|LPHN2_ENST00000370723.1_Missense_Mutation_p.V637F			O95490	LPHN2_HUMAN	latrophilin 2	650					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|latrotoxin receptor activity|sugar binding			NS(3)|breast(6)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(18)|liver(2)|lung(37)|ovary(3)|pancreas(1)|prostate(3)|skin(22)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	119				all cancers(265;0.00142)|Epithelial(280;0.00829)|OV - Ovarian serous cystadenocarcinoma(397;0.077)|STAD - Stomach adenocarcinoma(256;0.248)		AGGAGCTTTTGTCCTAGCTGA	0.368													T	82421687	G	T	82421687	3	4	751	1	0	0	0	0	1	0	0	0	8986	1377	48	4	1939	4	LPHN2	1	82421687	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	34812693	82421687	166828934	3	56536											
DENND2C	163259	broad.mit.edu	37	chr1	115130509	115130509	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	acagtcatgttcaaagaataAtgtcctaccaactccacaaa	17	9	4	11	0	2	1	2	0	0	1	4	1	4	1	3	0	2	1	3	0	6	3			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:115130509A>G	ENST00000393274.1	-	19	3121	c.2496T>C	c.(2494-2496)caT>caC	p.H832H	DENND2C_ENST00000393277.1_Silent_p.H720H|DENND2C_ENST00000393276.3_Silent_p.H775H|DENND2C_ENST00000481894.1_5'UTR	NM_001256404.1	NP_001243333.1	Q68D51	DEN2C_HUMAN	DENN/MADD domain containing 2C	832	dDENN.									NS(2)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|pancreas(1)|skin(3)	37	all_epithelial(7;9.54e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCAAAGAATAATGTCCTACCA	0.453													G	115130509	A	G	115130509	2	3	751	1	0	0	0	0	0	0	0	1	4469	98	4	3		3	DENND2C	1	115130509	Silent	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	32708822	115130509	134120112	4	56537											
BCL9	607	broad.mit.edu	37	chr1	147091685	147091685	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gataaactctgaaatggaagGgccgaatgtccccaaccctg	13	7	10	11	1	1	1	0	1	1	0	2	4	2	2	4	2	2	0	4	2	6	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:147091685G>A	ENST00000234739.3	+	8	2464	c.1724G>A	c.(1723-1725)gGg>gAg	p.G575E		NM_004326.2	NP_004317.2	O00512	BCL9_HUMAN	B-cell CLL/lymphoma 9	575	Pro-rich.				Wnt receptor signaling pathway	nucleus	protein binding	p.G575V(1)		breast(1)|large_intestine(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	7	all_hematologic(923;0.115)					GAAATGGAAGGGCCGAATGTC	0.557			T	"IGH@, IGL@"	B-ALL								A	147091685	G	A	147091685	3	1	751	1	0	0	0	0	1	0	0	0	1386	1232	43	2	1742	2	BCL9	1	147091685	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	31961176	147091685	102158936	5	56538											
DCST2	127579	broad.mit.edu	37	chr1	155004069	155004069	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctggcaagtccacagagCgccagtttgaagggcatgag	10	6	15	10	2	0	3	0	2	0	1	1	3	1	3	2	3	1	4	2	3	2	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:155004069C>T	ENST00000368424.3	-	4	778	c.720G>A	c.(718-720)gcG>gcA	p.A240A	DCST2_ENST00000295536.5_Silent_p.A240A	NM_144622.2	NP_653223.2	Q5T1A1	DCST2_HUMAN	DC-STAMP domain containing 2	240						integral to membrane				breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|prostate(1)|skin(1)	38	all_epithelial(22;2.77e-30)|all_lung(78;4.1e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.00034)			GTCCACAGAGCGCCAGTTTGA	0.592													T	155004069	C	T	155004069	2	4	751	1	0	0	0	0	0	0	0	1	4337	755	27	1		1	DCST2	1	155004069	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	7912384	155004069	94246552	6	56539											
HIST3H2BB	128312	broad.mit.edu	37	chr1	228646048	228646048	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgtcaatgacatcttcgagcGcatcgccagcgaggcctccc	8	7	10	16	5	2	1	1	1	1	0	5	3	3	1	3	1	2	1	3	1	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:228646048G>A	ENST00000369160.2	+	1	241	c.218G>A	c.(217-219)cGc>cAc	p.R73H		NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	73					nucleosome assembly	nucleosome|nucleus	DNA binding	p.R73L(1)		skin(1)	1		Prostate(94;0.183)				ATCTTCGAGCGCATCGCCAGC	0.622													A	228646048	G	A	228646048	3	1	751	1	0	0	0	0	1	0	0	0	7238	1087	38	1	220	1	HIST3H2BB	1	228646048	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	73641979	228646048	20604573	7	56540											
ZNF124	7678	broad.mit.edu	37	chr1	247323000	247323000	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattcttacctatggaagccAgattcctgaaggtttcctgc	9	13	9	10	0	1	2	0	1	1	1	3	4	3	3	4	2	3	1	4	2	4	5			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:247323000A>G	ENST00000472531.1	-	2	273	c.146T>C	c.(145-147)cTg>cCg	p.L49P	ZNF124_ENST00000491356.1_Missense_Mutation_p.L49P|ZNF124_ENST00000491848.1_5'UTR|ZNF124_ENST00000543802.2_Missense_Mutation_p.L49P|ZNF124_ENST00000340684.6_Missense_Mutation_p.L49P	NM_001243740.1	NP_001230669.1	Q15973	ZN124_HUMAN	zinc finger protein 124	49	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			biliary_tract(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(3)|urinary_tract(2)	14	all_cancers(71;5.07e-05)|all_epithelial(71;8.72e-06)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0488)|Lung NSC(105;0.053)		OV - Ovarian serous cystadenocarcinoma(106;0.00739)			TATGGAAGCCAGATTCCTGAA	0.413													G	247323000	A	G	247323000	3	3	751	1	0	0	0	0	1	0	0	0	17821	188	7	3	735	3	ZNF124	1	247323000	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	18676952	247323000	1927621	8	56541											
OR2T27	403239	broad.mit.edu	37	chr1	248813322	248813322	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttgttcctaaggctgtaaatGagtggattgagcatgggagt	10	13	14	4	0	0	2	0	2	0	0	1	4	1	4	1	3	1	4	1	3	3	5			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr1:248813322G>C	ENST00000344889.3	-	1	863	c.864C>G	c.(862-864)ctC>ctG	p.L288L		NM_001001824.1	NP_001001824.1	Q8NH04	O2T27_HUMAN	olfactory receptor, family 2, subfamily T, member 27	288					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|endometrium(2)|large_intestine(4)|lung(20)|skin(3)|stomach(1)	32	all_cancers(71;1.15e-05)|all_epithelial(71;5.29e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.089)|Lung NSC(105;0.0969)|Melanoma(84;0.199)	all_cancers(173;0.237)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GGCTGTAAATGAGTGGATTGA	0.483													C	248813322	G	C	248813322	2	2	751	1	0	0	0	0	0	0	0	1	11097	1277	45	4		4	OR2T27	1	248813322	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	1490322	248813322	437299	9	56542											
CEP68	23177	broad.mit.edu	37	chr2	65299194	65299194	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcccaaagcaccttgatagcCgtgtgccagctgaccctgtc	8	9	9	15	1	0	2	0	2	0	0	2	2	1	2	5	0	4	2	5	0	2	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:65299194C>T	ENST00000377990.2	+	3	1167	c.964C>T	c.(964-966)Cgt>Tgt	p.R322C	CEP68_ENST00000497039.1_3'UTR|CEP68_ENST00000260569.4_Missense_Mutation_p.R322C|CEP68_ENST00000546106.1_Missense_Mutation_p.R322C|CEP68_ENST00000537589.1_5'UTR|RAB1A_ENST00000494188.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	322					centrosome organization	centrosome				breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CCTTGATAGCCGTGTGCCAGC	0.547													T	65299194	C	T	65299194	3	4	751	1	0	0	0	0	1	0	0	0	3288	652	23	1	970	1	CEP68	2	65299194	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		65299194	177900179	10	56543											
GGCX	2677	broad.mit.edu	37	chr2	85780433	85780433	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aaggcagctcccagctgatgGcgcagccctggcttctggcc	6	7	13	15	1	1	1	0	1	1	0	2	1	2	1	3	4	3	5	3	4	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:85780433G>A	ENST00000233838.4	-	8	1157	c.1077C>T	c.(1075-1077)cgC>cgT	p.R359R	GGCX_ENST00000430215.3_Silent_p.R302R|GGCX_ENST00000473665.1_5'UTR	NM_000821.5	NP_000812.2	P38435	VKGC_HUMAN	gamma-glutamyl carboxylase						blood coagulation|peptidyl-glutamic acid carboxylation|post-translational protein modification	endoplasmic reticulum membrane|integral to membrane|membrane fraction	gamma-glutamyl carboxylase activity			endometrium(3)|large_intestine(5)|lung(3)|ovary(1)|stomach(1)|urinary_tract(2)	15					Anisindione(DB01125)|Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Drotrecogin alfa(DB00055)|L-Glutamic Acid(DB00142)|Menadione(DB00170)|Phytonadione(DB01022)	CCAGCTGATGGCGCAGCCCTG	0.577													A	85780433	G	A	85780433	2	1	751	1	0	0	0	0	0	0	0	1	6412	1190	42	2		2	GGCX	2	85780433	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	20481239	85780433	157418940	11	56544											
LRP2	4036	broad.mit.edu	37	chr2	170031819	170031819	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actgtcccagtcggcagaagCgctgcgggcaaagggccagt	9	5	15	12	3	0	1	0	0	0	1	2	1	1	1	2	3	2	3	2	3	2	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:170031819C>T	ENST00000263816.3	-	55	10937	c.10652G>A	c.(10651-10653)cGc>cAc	p.R3551H		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	3551	LDL-receptor class A 27.				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	p.R3551H(2)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)	TCGGCAGAAGCGCTGCGGGCA	0.532													T	170031819	C	T	170031819	3	4	751	1	0	0	0	0	1	0	0	0	9026	768	27	1	3415	1	LRP2	2	170031819	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	84251386	170031819	73167554	12	56545											
GLB1L	79411	broad.mit.edu	37	chr2	220108252	220108252	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcagtagcgtcaggctgagcGgcagcagcagggaacgaagg	11	3	18	9	3	1	1	1	1	0	0	1	3	1	2	0	4	5	6	0	4	3	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:220108252G>A	ENST00000295759.7	-	2	357	c.44C>T	c.(43-45)cCg>cTg	p.P15L	GLB1L_ENST00000409640.1_Missense_Mutation_p.P15L|GLB1L_ENST00000392089.2_Missense_Mutation_p.P15L|GLB1L_ENST00000356283.3_Missense_Mutation_p.P15L			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	15					carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CAGGCTGAGCGGCAGCAGCAG	0.612													A	220108252	G	A	220108252	3	1	751	1	0	0	0	0	1	0	0	0	6484	1116	39	1	1984	1	GLB1L	2	220108252	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	50076433	220108252	23091121	13	56546											
UBE2F	140739	broad.mit.edu	37	chr2	238925257	238925257	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtttgaaactgaagttccCgatgcgtacaacatggtggt	11	11	11	8	2	0	2	0	2	0	0	1	3	1	2	1	2	4	3	1	2	4	3			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr2:238925257C>T	ENST00000272930.4	+	5	458	c.264C>T	c.(262-264)ccC>ccT	p.P88P	UBE2F_ENST00000409953.1_Silent_p.P64P|UBE2F_ENST00000409332.1_Silent_p.P66P|UBE2F-SCLY_ENST00000449191.1_Silent_p.P88P|UBE2F_ENST00000409633.1_Silent_p.P88P|UBE2F_ENST00000414443.1_Silent_p.P56P	NM_001278305.1|NM_080678.2	NP_001265234.1|NP_542409.1	Q969M7	UBE2F_HUMAN	ubiquitin-conjugating enzyme E2F (putative)	88					protein neddylation		ATP binding|NEDD8 ligase activity|protein binding			endometrium(1)|large_intestine(1)	2		Breast(86;0.0042)|Renal(207;0.00571)|Ovarian(221;0.17)|all_hematologic(139;0.182)		Epithelial(121;6.7e-23)|OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|Kidney(56;3.53e-09)|KIRC - Kidney renal clear cell carcinoma(57;9.79e-08)|BRCA - Breast invasive adenocarcinoma(100;0.000136)|Lung(119;0.0126)|LUSC - Lung squamous cell carcinoma(224;0.0301)		CTGAAGTTCCCGATGCGTACA	0.458													T	238925257	C	T	238925257	2	4	751	1	0	0	0	0	0	0	0	1	16957	639	23	1		1	UBE2F	2	238925257	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	18817005	238925257	4274116	14	56547											
NISCH	11188	broad.mit.edu	37	chr3	52525405	52525405	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gtggtcacgtgcttgacgcgGgacagctacctgacgcactg	7	8	14	12	4	1	2	1	2	0	0	1	3	1	3	1	2	3	3	1	2	1	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:52525405G>T	ENST00000345716.4	+	20	3914	c.3780G>T	c.(3778-3780)cgG>cgT	p.R1260R	NISCH_ENST00000479054.1_Silent_p.R1260R	NM_007184.3	NP_009115	Q9Y2I1	NISCH_HUMAN	nischarin	1260					apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)		GCTTGACGCGGGACAGCTACC	0.647													T	52525405	G	T	52525405	2	4	751	1	0	0	0	0	0	0	0	1	10508	1219	43	4		4	NISCH	3	52525405	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		52525405	145497025	15	56548											
MAGI1	9223	broad.mit.edu	37	chr3	65376868	65376868	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccagattttaaaaggatctgGttttttctggccagagctgt	9	15	10	7	0	2	2	0	0	2	2	2	3	2	3	2	3	1	2	2	3	2	5			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr3:65376868G>T	ENST00000330909.8	-	14	2364	c.2365C>A	c.(2365-2367)Cca>Aca	p.P789T	MAGI1_ENST00000483466.1_Missense_Mutation_p.P789T|MAGI1_ENST00000402939.2_Missense_Mutation_p.P789T|MAGI1_ENST00000497477.2_Missense_Mutation_p.P789T	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	789					cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	p.P789T(2)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		AAAGGATCTGGTTTTTTCTGG	0.567													T	65376868	G	T	65376868	3	4	751	1	0	0	0	0	1	0	0	0	9265	1261	44	4	2297	4	MAGI1	3	65376868	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	12851463	65376868	132645562	16	56549											
FAM114A1	92689	broad.mit.edu	37	chr4	38893436	38893436	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaaatctctgctgtcgtcaGcatctgccacagtaggtaag	10	10	10	11	1	3	0	1	0	2	0	5	0	3	0	1	1	3	5	1	1	3	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:38893436G>A	ENST00000358869.2	+	4	597	c.421G>A	c.(421-423)Gca>Aca	p.A141T	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	141						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						GCTGTCGTCAGCATCTGCCAC	0.473													A	38893436	G	A	38893436	3	1	751	1	0	0	0	0	1	0	0	0	5448	971	34	2	427	2	FAM114A1	4	38893436	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		38893436	152260840	17	56550											
DCHS2	54798	broad.mit.edu	37	chr4	155180800	155180800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcatcctgtatcaagactGctactttgcaataggctcta	10	14	6	11	0	3	1	2	0	2	1	5	1	4	1	1	1	3	4	1	1	6	5			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr4:155180800G>A	ENST00000357232.4	-	20	5320	c.5321C>T	c.(5320-5322)gCa>gTa	p.A1774V		NM_017639.3	NP_060109.2	Q6V1P9	PCD23_HUMAN	dachsous cadherin-related 2		Cadherin 15.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(3)|endometrium(8)|kidney(5)|large_intestine(54)|lung(63)|ovary(4)|pancreas(1)|prostate(14)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	176	all_hematologic(180;0.208)	Renal(120;0.0854)		LUSC - Lung squamous cell carcinoma(193;0.107)		TATCAAGACTGCTACTTTGCA	0.393													A	155180800	G	A	155180800	3	1	751	1	0	0	0	0	1	0	0	0	4322	1319	46	2	3453	2	DCHS2	4	155180800	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	116287364	155180800	35973476	18	56551											
PCDHAC1	56135	broad.mit.edu	37	chr5	140307730	140307730	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaagtcctgatcacggcctCagatagtggctcacccccac	9	7	8	17	1	3	2	3	1	0	1	4	2	4	2	5	2	0	1	5	2	2	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:140307730C>T	ENST00000253807.2	+	1	1253	c.1253C>T	c.(1252-1254)tCa>tTa	p.S418L	PCDHA5_ENST00000529859.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.S418L|PCDHA11_ENST00000398640.2_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATCACGGCCTCAGATAGTGGC	0.517													T	140307730	C	T	140307730	3	4	751	1	0	0	0	0	1	0	0	0	11608	838	29	2	1255	2	PCDHAC1	5	140307730	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		140307730	40607530	19	56552											
NDST1	3340	broad.mit.edu	37	chr5	149915331	149915331	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcgtgtaccccgtgcacGtgcagctgtacgaggcttgg	5	8	16	12	5	0	0	0	0	0	0	0	1	0	0	2	3	5	6	2	3	2	3			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr5:149915331G>A	ENST00000261797.6	+	6	1823	c.1321G>A	c.(1321-1323)Gtg>Atg	p.V441M	NDST1_ENST00000523767.1_Missense_Mutation_p.V441M	NM_001543.4	NP_001534.1	P52848	NDST1_HUMAN	N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1	441	Heparan sulfate N-deacetylase 1.				heparan sulfate proteoglycan biosynthetic process|inflammatory response	Golgi membrane|integral to membrane	[heparan sulfate]-glucosamine N-sulfotransferase activity|hydrolase activity			breast(2)|central_nervous_system(3)|endometrium(5)|kidney(1)|large_intestine(6)|lung(10)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	34		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CCCCGTGCACGTGCAGCTGTA	0.647													A	149915331	G	A	149915331	3	1	751	1	0	0	0	0	1	0	0	0	10331	1145	40	1	1339	1	NDST1	5	149915331	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	9607601	149915331	30999929	20	56553											
AMZ1	155185	broad.mit.edu	37	chr7	2752024	2752024	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccagccaggaggcgggggagCcgtcagtgtgggaggacacc	8	3	19	11	2	1	0	1	0	0	0	1	4	1	4	4	6	2	0	4	6	0	0			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:2752024C>T	ENST00000312371.4	+	7	1377	c.1009C>T	c.(1009-1011)Ccg>Tcg	p.P337S	AMZ1_ENST00000489665.1_Intron|AMZ1_ENST00000407112.1_Missense_Mutation_p.A280V	NM_133463.1	NP_597720.1	Q400G9	AMZ1_HUMAN	archaelysin family metallopeptidase 1	337							metallopeptidase activity|zinc ion binding			breast(2)|kidney(1)|large_intestine(4)|lung(8)|skin(1)	16		Ovarian(82;0.0779)		OV - Ovarian serous cystadenocarcinoma(56;5.03e-14)		GGCGGGGGAGCCGTCAGTGTG	0.672													T	2752024	C	T	2752024	3	4	751	1	0	0	0	0	1	0	0	0	596	739	26	2	1031	2	AMZ1	7	2752024	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		2752024	156386639	21	56554											
ASNS	440	broad.mit.edu	37	chr7	97482450	97482450	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatcactgaaggcttctttTggtcgccagagaatctcttt	8	14	8	11	1	3	2	1	1	2	1	5	3	3	2	2	2	0	1	2	2	2	4			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:97482450T>C	ENST00000175506.4	-	13	1926	c.1398A>G	c.(1396-1398)ccA>ccG	p.P466P	ASNS_ENST00000444334.1_Silent_p.P445P|ASNS_ENST00000394308.3_Silent_p.P466P|ASNS_ENST00000394309.3_Silent_p.P466P|ASNS_ENST00000455086.1_Silent_p.P383P|ASNS_ENST00000437628.1_Silent_p.P383P|ASNS_ENST00000422745.1_Silent_p.P445P	NM_183356.3	NP_899199.2	P08243	ASNS_HUMAN	asparagine synthetase (glutamine-hydrolyzing)	466	Asparagine synthetase.				cellular response to glucose starvation|glutamine metabolic process|negative regulation of apoptosis|positive regulation of mitotic cell cycle	cytosol|soluble fraction	asparagine synthase (glutamine-hydrolyzing) activity|ATP binding			ovary(1)	1	all_cancers(62;6.64e-09)|all_epithelial(64;1.58e-09)|Esophageal squamous(72;0.00448)|Lung NSC(181;0.0342)|all_lung(186;0.0369)				Adenosine triphosphate(DB00171)|L-Asparagine(DB00174)|L-Aspartic Acid(DB00128)|L-Glutamic Acid(DB00142)|L-Glutamine(DB00130)	AGGCTTCTTTTGGTCGCCAGA	0.373													C	97482450	T	C	97482450	2	2	751	1	0	0	0	0	0	0	0	1	1053	1799	63	3		3	ASNS	7	97482450	Silent	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	94730426	97482450	61656213	22	56555											
MUC17	140453	broad.mit.edu	37	chr7	100683876	100683876	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcaccacgccagtggccaTtcctgaggctagcacccttt	8	8	9	16	1	0	1	0	1	0	0	1	1	1	1	5	2	2	3	5	2	1	3	rs145514577	byFrequency	TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr7:100683876T>G	ENST00000306151.4	+	3	9243	c.9179T>G	c.(9178-9180)aTt>aGt	p.I3060S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	3060	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)					CCAGTGGCCATTCCTGAGGCT	0.493													G	100683876	T	G	100683876	3	3	751	1	0	0	0	0	1	0	0	0	10050	1493	52	5	9189	5	MUC17	7	100683876	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	3201426	100683876	58454787	23	56556											
FABP4	2167	broad.mit.edu	37	chr8	82392665	82392665	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccttatttctcaccttgActttcctgtcatctgcagtg	5	18	5	13	0	3	1	2	1	2	0	6	1	5	1	3	0	1	1	3	0	1	5			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr8:82392665A>G	ENST00000256104.4	-	2	337	c.242T>C	c.(241-243)gTc>gCc	p.V81A	FABP4_ENST00000518669.1_5'UTR|RP11-157I4.4_ENST00000524085.2_RNA	NM_001442.2	NP_001433.1	P15090	FABP4_HUMAN	fatty acid binding protein 4, adipocyte	81					triglyceride catabolic process	cytoplasm|nucleus|soluble fraction	fatty acid binding|protein binding|transporter activity			breast(2)|central_nervous_system(1)|large_intestine(1)|ovary(1)|skin(1)	6			Epithelial(68;0.213)			TCTCACCTTGACTTTCCTGTC	0.378													G	82392665	A	G	82392665	3	3	751	1	0	0	0	0	1	0	0	0	5404	275	10	3	168	3	FABP4	8	82392665	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08		82392665	63971357	24	56557											
DNM1	1759	broad.mit.edu	37	chr9	130982298	130982298	+	Frame_Shift_Del	DEL	G	G	-																															atcggggtcatcaccaagctGgacctgatggacgagggcac																										TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr9:130982298delG	ENST00000341179.7	+	5	713	c.621delG	c.(619-621)ctgfs	p.L207fs	DNM1_ENST00000475805.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000372923.3_Frame_Shift_Del_p.L207fs|DNM1_ENST00000486160.1_Frame_Shift_Del_p.L207fs|DNM1_ENST00000393594.3_Frame_Shift_Del_p.L207fs	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN	dynamin 1	207					receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						TCACCAAGCTGGACCTGATGG	0.632													-	130982298	G	-	130982298	7	5	751	1	0	1	0	1	0	0	0	0	4709	1335	47	0	639	0	DNM1	9	130982298	Frame_Shift_Del	DEL	G	TCGA-TM-A84J-01A-11D-A36O-08		130982298	10231133	25	56558											
UPF2	26019	broad.mit.edu	37	chr10	11990430	11990432	+	In_Frame_Del	DEL	CTT	CTT	-																															ttcttctgtttcagccccacCttcttcttcttcttcatcct																										TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:11990430_11990432delCTT	ENST00000356352.2	-	15	3583_3585	c.3110_3112delAAG	c.(3109-3114)gaaggt>ggt	p.E1037del	UPF2_ENST00000357604.5_In_Frame_Del_p.E1037del|UPF2_ENST00000397053.2_In_Frame_Del_p.E1037del			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	1037	Glu-rich.|Sufficient for interaction with EIF4A1 and EIF1.				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	exon-exon junction complex|perinuclear region of cytoplasm	identical protein binding|RNA binding			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				tcagccccaccttcttcttcttc	0.374													-	11990432	CTT	-	11990430	7	5	751	1	0	1	0	1	0	0	0	0	17106	681	24	0	734	0	UPF2	10	11990430	In_Frame_Del	DEL	CTT	TCGA-TM-A84J-01A-11D-A36O-08		11990430	123544317	26	56559											
CDC123	8872	broad.mit.edu	37	chr10	12238313	12238313	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttccgaggcgttaccatCaagaggtgagatgggagggg	9	9	16	7	2	2	2	1	1	1	2	3	5	3	3	2	5	1	1	2	5	2	3			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:12238313C>G	ENST00000281141.4	+	1	349	c.69C>G	c.(67-69)atC>atG	p.I23M	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.I23M	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	23					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						GCGTTACCATCAAGAGGTGAG	0.567													G	12238313	C	G	12238313	3	3	751	1	0	0	0	0	1	0	0	0	3085	816	29	4	71	4	CDC123	10	12238313	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	247883	12238313	123296434	27	56560											
MYO3A	53904	broad.mit.edu	37	chr10	26482183	26482183	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgagacccccaagacgaccCcggaaacccaaaacattaaa	17	4	6	14	2	0	2	0	1	0	2	0	5	0	3	5	1	2	0	5	1	6	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:26482183C>T	ENST00000265944.5	+	32	4654	c.4488C>T	c.(4486-4488)ccC>ccT	p.P1496P	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1496					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CAAGACGACCCCGGAAACCCA	0.378													T	26482183	C	T	26482183	2	4	751	1	0	0	0	0	0	0	0	1	10152	610	22	2		2	MYO3A	10	26482183	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	14243870	26482183	109052564	28	56561											
DNAJC12	56521	broad.mit.edu	37	chr10	69571296	69571296	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acccaccgtcttcactgagtCattcaaagcttcccactgct	9	11	5	16	1	4	1	3	1	1	0	5	1	5	1	3	0	2	2	3	0	1	3			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:69571296C>G	ENST00000225171.2	-	3	435	c.283G>C	c.(283-285)Gac>Cac	p.D95H	DNAJC12_ENST00000339758.7_Missense_Mutation_p.D95H|DNAJC12_ENST00000483798.2_Missense_Mutation_p.D125H	NM_021800.2	NP_068572.1	Q9UKB3	DJC12_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 12	95					protein folding		heat shock protein binding|unfolded protein binding			breast(2)|kidney(2)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(1)	12						TTCACTGAGTCATTCAAAGCT	0.502													G	69571296	C	G	69571296	3	3	751	1	0	0	0	0	1	0	0	0	4670	826	29	4	352	4	DNAJC12	10	69571296	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	43089113	69571296	65963451	29	56562											
PKD2L1	9033	broad.mit.edu	37	chr10	102057259	102057259	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagcctctgcactacccTgtcgggatcctggaaggtcc	7	8	13	13	1	1	1	0	0	1	1	4	4	3	3	4	4	3	1	4	4	2	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:102057259T>C	ENST00000318222.3	-	5	1218	c.836A>G	c.(835-837)cAg>cGg	p.Q279R	PKD2L1_ENST00000338519.3_Intron|PKD2L1_ENST00000353274.3_Missense_Mutation_p.Q279R	NM_001253837.1|NM_016112.2	NP_001240766.1|NP_057196.2	Q9P0L9	PK2L1_HUMAN	polycystic kidney disease 2-like 1	279					signal transduction	integral to membrane	calcium activated cation channel activity|calcium ion binding|cytoskeletal protein binding			NS(2)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(4)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	43		Colorectal(252;0.117)		Epithelial(162;6.15e-10)|all cancers(201;5.14e-08)		TGCACTACCCTGTCGGGATCC	0.597													C	102057259	T	C	102057259	3	2	751	1	0	0	0	0	1	0	0	0	12044	1580	55	3	1629	3	PKD2L1	10	102057259	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	32485963	102057259	33477488	30	56563											
DUSP5	1847	broad.mit.edu	37	chr10	112262511	112262512	+	Frame_Shift_Del	DEL	GA	GA	-																															ctttctactcggaatatcctGagtgttgcgtggatgtaaaa																										TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr10:112262511_112262512delGA	ENST00000369583.3	+	2	696_697	c.412_413delGA	c.(412-414)gagfs	p.E138fs	DUSP5_ENST00000468749.1_3'UTR	NM_004419.3	NP_004410.3	Q16690	DUS5_HUMAN	dual specificity phosphatase 5	138	Rhodanese.				endoderm formation|inactivation of MAPK activity	nucleoplasm	MAP kinase tyrosine/serine/threonine phosphatase activity|protein tyrosine phosphatase activity			kidney(2)|large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(2)	13		Breast(234;0.0848)		Epithelial(162;0.000276)|all cancers(201;0.00465)|BRCA - Breast invasive adenocarcinoma(275;0.12)		GGAATATCCTGAGTGTTGCGTG	0.431													-	112262512	GA	-	112262511	7	5	751	1	0	1	0	1	0	0	0	0	4867	1291	45	0	418	0	DUSP5	10	112262511	Frame_Shift_Del	DEL	GA	TCGA-TM-A84J-01A-11D-A36O-08	10205252	112262511	23272236	31	56564											
FAM76B	143684	broad.mit.edu	37	chr11	95512069	95512069	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcttctttcaattgacttaTaaggacaaaattgtctgttc	11	18	5	7	0	4	1	1	1	3	0	5	2	4	2	0	1	0	1	0	1	5	8			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:95512069T>C	ENST00000358780.5	-	8	1057	c.745A>G	c.(745-747)Ata>Gta	p.I249V	FAM76B_ENST00000536839.1_Missense_Mutation_p.I248V	NM_144664.4	NP_653265.3	Q5HYJ3	FA76B_HUMAN	family with sequence similarity 76, member B	249										breast(1)|kidney(1)|lung(1)	3		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				AATTGACTTATAAGGACAAAA	0.333													C	95512069	T	C	95512069	3	2	751	1	0	0	0	0	1	0	0	0	5675	1406	49	3	286	3	FAM76B	11	95512069	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		95512069	39494447	32	56565											
ATM	472	broad.mit.edu	37	chr11	108158380	108158382	+	In_Frame_Del	DEL	GAC	GAC	-																															attgtggtggagttattgatGacgttacatgagccagcaaa																										TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:108158380_108158382delGAC	ENST00000278616.4	+	27	4432_4434	c.4047_4049delGAC	c.(4045-4050)atgacg>atg	p.T1350del	ATM_ENST00000452508.2_In_Frame_Del_p.T1350del	NM_000051.3	NP_000042	Q13315	ATM_HUMAN	ataxia telangiectasia mutated	1350					cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)		AGTTATTGATGACGTTACATGAG	0.345			"D, Mis, N, F, S"		T-PLL	"leukemia, lymphoma, medulloblastoma, glioma"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)			-	108158382	GAC	-	108158380	7	5	751	1	0	1	0	1	0	0	0	0	1114	1290	45	0	4149	0	ATM	11	108158380	In_Frame_Del	DEL	GAC	TCGA-TM-A84J-01A-11D-A36O-08	12646311	108158380	26848136	33	56566											
NCAPD3	23310	broad.mit.edu	37	chr11	134080162	134080162	+	Splice_Site	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttatactcaacttacttcttAcctcaatatcttctctcctg	9	18	1	13	0	5	0	2	0	3	0	7	0	6	0	2	0	4	0	2	0	7	7			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr11:134080162A>C	ENST00000534548.2	-	4	632		c.e4+1			NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3						cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		CTTACTTCTTACCTCAATATC	0.383													C	134080162	A	C	134080162	5	2	751	1	0	0	0	0	0	0	1	0	10282	405	14	5	4055	5	NCAPD3	11	134080162	Splice_Site	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	25921782	134080162	926354	34	56567											
CD163L1	283316	broad.mit.edu	37	chr12	7522052	7522052	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgactcatttcctttgcaccGcatgtcatccaaccagatgg	9	12	7	13	1	2	2	2	1	0	1	4	2	4	2	4	1	2	2	4	1	1	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:7522052G>A	ENST00000313599.3	-	15	3997	c.3940C>T	c.(3940-3942)Cgg>Tgg	p.R1314W	CD163L1_ENST00000416109.2_Missense_Mutation_p.R1324W|CD163L1_ENST00000396630.1_Missense_Mutation_p.R1314W			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	1314	SRCR 12.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						CCTTTGCACCGCATGTCATCC	0.572													A	7522052	G	A	7522052	3	1	751	1	0	0	0	0	1	0	0	0	2998	1086	38	1	441	1	CD163L1	12	7522052	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		7522052	126329843	35	56568											
AQP2	359	broad.mit.edu	37	chr12	50349300	50349300	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtgctgaagggcctggagcCggacaccgattgggaggagc	9	5	18	9	2	0	1	0	1	0	0	0	6	0	5	3	5	3	1	3	5	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:50349300C>T	ENST00000199280.3	+	4	810	c.725C>T	c.(724-726)cCg>cTg	p.P242L	RP11-469H8.6_ENST00000552379.1_RNA|RP11-469H8.8_ENST00000552806.1_RNA|RP11-469H8.6_ENST00000550530.1_RNA	NM_000486.5	NP_000477.1	P41181	AQP2_HUMAN	aquaporin 2 (collecting duct)	242					cellular response to copper ion|cellular response to mercury ion|excretion	apical plasma membrane|integral to membrane|transport vesicle membrane	glycerol transmembrane transporter activity|water channel activity			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(4)|ovary(2)	10						GGCCTGGAGCCGGACACCGAT	0.692													T	50349300	C	T	50349300	3	4	751	1	0	0	0	0	1	0	0	0	829	652	23	1	739	1	AQP2	12	50349300	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	42827248	50349300	83502595	36	56569											
C12orf42	374470	broad.mit.edu	37	chr12	103700000	103700000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggatggtgctggagaggaaCggaattcttcatagctttct	9	13	13	6	1	3	1	1	0	2	1	3	5	3	4	0	5	3	2	0	5	3	4			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr12:103700000C>T	ENST00000548048.1	-	8	678	c.182G>A	c.(181-183)cGt>cAt	p.R61H	C12orf42_ENST00000548789.1_5'UTR|C12orf42_ENST00000315192.8_Intron|C12orf42_ENST00000378113.2_Missense_Mutation_p.R128H|C12orf42_ENST00000548883.1_Missense_Mutation_p.R128H			Q96LP6	CL042_HUMAN	chromosome 12 open reading frame 42	128								p.R128H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)	22						TGGAGAGGAACGGAATTCTTC	0.468													T	103700000	C	T	103700000	3	4	751	1	0	0	0	0	1	0	0	0	1701	536	19	1	707	1	C12orf42	12	103700000	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	53350700	103700000	30151895	37	56570											
TDP1	55775	broad.mit.edu	37	chr14	90509453	90509453	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cattccttatgtcaaagcacCggatacgcatgggaacatgt	12	10	9	10	2	1	0	1	0	0	0	2	2	2	2	2	2	3	2	2	2	4	3	rs113382706		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr14:90509453C>T	ENST00000335725.4	+	17	2043	c.1793C>T	c.(1792-1794)cCg>cTg	p.P598L	TDP1_ENST00000393452.3_3'UTR|TDP1_ENST00000555880.1_Missense_Mutation_p.R562W|TDP1_ENST00000393454.2_Missense_Mutation_p.P598L|TDP1_ENST00000357382.3_Missense_Mutation_p.P359L	NM_018319.3	NP_060789.2	Q9NUW8	TYDP1_HUMAN	tyrosyl-DNA phosphodiesterase 1	598					cell death|double-strand break repair|single strand break repair	cytoplasm|nucleus	3'-tyrosyl-DNA phosphodiesterase activity|double-stranded DNA binding|exonuclease activity|protein binding|single-stranded DNA binding			NS(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|urinary_tract(1)	25		all_cancers(154;0.185)		COAD - Colon adenocarcinoma(157;0.23)		GTCAAAGCACCGGATACGCAT	0.423								Repair of DNA-protein crosslinks					T	90509453	C	T	90509453	3	4	751	1	0	0	0	0	1	0	0	0	15828	652	23	1	1851	1	TDP1	14	90509453	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		90509453	16840087	38	56571											
DENND4A	10260	broad.mit.edu	37	chr15	65960387	65960387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggaaatattggacatttaGacatagctgtttttgatcta	12	17	8	4	0	1	2	0	1	1	1	1	4	1	4	0	2	1	2	0	2	5	9			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr15:65960387G>C	ENST00000443035.3	-	28	5074	c.4859C>G	c.(4858-4860)tCt>tGt	p.S1620C	DENND4A_ENST00000431932.2_Missense_Mutation_p.S1577C	NM_001144823.1	NP_001138295.1	Q7Z401	MYCPP_HUMAN	DENN/MADD domain containing 4A	1577					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						TGGACATTTAGACATAGCTGT	0.398													C	65960387	G	C	65960387	3	2	751	1	0	0	0	0	1	0	0	0	4472	942	33	4	885	4	DENND4A	15	65960387	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		65960387	36571005	39	56572											
ABCA3	21	broad.mit.edu	37	chr16	2338249	2338249	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagaggcaccaggacctgtgCcgccaccattttccactcgc	8	7	9	17	2	0	1	0	0	0	1	2	2	1	2	6	2	1	1	6	2	0	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr16:2338249C>A	ENST00000301732.5	-	21	3482	c.2782G>T	c.(2782-2784)Gca>Tca	p.A928S	ABCA3_ENST00000382381.3_Missense_Mutation_p.A870S	NM_001089.2	NP_001080.2	Q99758	ABCA3_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 3	928					response to drug	integral to membrane|lamellar body|membrane fraction|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(7)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(7)|prostate(5)|skin(6)|upper_aerodigestive_tract(1)	70		Ovarian(90;0.17)				AGGACCTGTGCCGCCACCATT	0.637													A	2338249	C	A	2338249	3	1	751	1	0	0	0	0	1	0	0	0	33	739	26	4	2384	4	ABCA3	16	2338249	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08		2338249	88016504	40	56573											
TRPV1	7442	broad.mit.edu	37	chr17	3491593	3491593	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgggcccgtaggcccactcGgtgaacttcctggacaggtg	7	7	14	13	3	0	1	0	1	0	0	2	2	1	2	3	5	1	1	3	5	2	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:3491593G>A	ENST00000174621.6	-	6	1396	c.1107C>T	c.(1105-1107)acC>acT	p.T369T	TRPV1_ENST00000571088.1_Silent_p.T371T|TRPV1_ENST00000576351.1_Silent_p.T371T|SHPK_ENST00000572705.1_Silent_p.T371T|TRPV1_ENST00000399756.4_Silent_p.T371T|TRPV1_ENST00000425167.2_Silent_p.T382T|TRPV1_ENST00000310522.5_Intron|TRPV1_ENST00000399759.3_Silent_p.T371T			Q8NER1	TRPV1_HUMAN	transient receptor potential cation channel, subfamily V, member 1	371					cell surface receptor linked signaling pathway|chemosensory behavior|thermoception	cell junction|dendritic spine membrane|integral to plasma membrane|postsynaptic membrane	ATP binding|calcium channel activity|calmodulin binding			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	17				Lung(1;0.055)|COAD - Colon adenocarcinoma(5;0.0896)|LUAD - Lung adenocarcinoma(1115;0.131)	Alpha-Linolenic Acid(DB00132)|Aspartame(DB00168)|Icosapent(DB00159)	AGGCCCACTCGGTGAACTTCC	0.637													A	3491593	G	A	3491593	2	1	751	1	0	0	0	0	0	0	0	1	16696	1103	39	1		1	TRPV1	17	3491593	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		3491593	77703617	41	56574											
TP53	7157	broad.mit.edu	37	chr17	7578458	7578458	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttgtagatggccatggcgcGgacgcgggtgccgggcgggg	4	6	21	10	6	0	1	0	0	0	1	0	2	0	2	2	7	1	1	2	7	1	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:7578458G>T	ENST00000420246.2	-	5	604	c.472C>A	c.(472-474)Cgc>Agc	p.R158S	TP53_ENST00000269305.4_Missense_Mutation_p.R158S|TP53_ENST00000455263.2_Missense_Mutation_p.R158S|TP53_ENST00000359597.4_Missense_Mutation_p.R158S|TP53_ENST00000445888.2_Missense_Mutation_p.R158S|TP53_ENST00000413465.2_Missense_Mutation_p.R158S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	158	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R158C(17)|p.R158G(16)|p.0?(8)|p.R158fs(6)|p.R158fs*12(6)|p.R158fs*11(6)|p.R65fs(2)|p.R65G(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.R26G(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.R156fs*12(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)		GCCATGGCGCGGACGCGGGTG	0.622		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)			T	7578458	G	T	7578458	3	4	751	1	0	0	0	0	1	0	0	0	16482	1116	39	4	826	4	TP53	17	7578458	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	4086865	7578458	73616752	42	56575											
DNAH9	1770	broad.mit.edu	37	chr17	11835397	11835397	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttgctctttgttacttcCatgcggtggtggcagaaaga	7	15	11	8	1	2	2	0	0	2	2	3	2	3	2	1	3	3	3	1	3	2	4			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:11835397C>T	ENST00000262442.4	+	64	12240	c.12172C>T	c.(12172-12174)Cat>Tat	p.H4058Y	DNAH9_ENST00000608377.1_Missense_Mutation_p.H370Y|DNAH9_ENST00000454412.2_Missense_Mutation_p.H3982Y|DNAH9_ENST00000396001.2_3'UTR	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 6 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTGTTACTTCCATGCGGTGGT	0.483													T	11835397	C	T	11835397	3	4	751	1	0	0	0	0	1	0	0	0	4647	594	21	2	12426	2	DNAH9	17	11835397	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	4256939	11835397	69359813	43	56576											
FBXO47	494188	broad.mit.edu	37	chr17	37118156	37118156	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atctgtagtgctccagtataGcagagtcttgtctcctgtca	8	14	9	10	0	4	1	1	0	3	1	6	1	5	1	2	0	2	4	2	0	3	4			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:37118156G>A	ENST00000378079.2	-	3	525	c.326C>T	c.(325-327)gCt>gTt	p.A109V		NM_001008777.2	NP_001008777.2	Q5MNV8	FBX47_HUMAN	F-box protein 47	109								p.A109V(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	20						CTCCAGTATAGCAGAGTCTTG	0.358													A	37118156	G	A	37118156	3	1	751	1	0	0	0	0	1	0	0	0	5805	971	34	2	1068	2	FBXO47	17	37118156	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	25282759	37118156	44077054	44	56577											
MRPL27	51264	broad.mit.edu	37	chr17	48447454	48447454	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgatgttcccagcatgaacaTagtgacctagaagagaagtc	14	9	10	8	0	0	5	0	3	0	2	2	6	1	5	2	0	2	2	2	0	5	3	rs148980265		TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:48447454T>C	ENST00000442592.3	-	3	215	c.179A>G	c.(178-180)tAt>tGt	p.Y60C	MRPL27_ENST00000511860.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000225969.4_Missense_Mutation_p.Y60C|MRPL27_ENST00000507088.1_Missense_Mutation_p.Y5C|MRPL27_ENST00000503633.1_Missense_Mutation_p.Y60C			Q9P0M9	RM27_HUMAN	mitochondrial ribosomal protein L27	60					translation	mitochondrial large ribosomal subunit	structural constituent of ribosome			endometrium(1)|large_intestine(2)|urinary_tract(1)	4	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;1.73e-07)			AGCATGAACATAGTGACCTAG	0.527													C	48447454	T	C	48447454	3	2	751	1	0	0	0	0	1	0	0	0	9867	1406	49	3	275	3	MRPL27	17	48447454	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	11329298	48447454	32747756	45	56578											
TANC2	26115	broad.mit.edu	37	chr17	61483616	61483616	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgaaggccatctaggaacCgtggactttctgcttgcaca	9	10	10	12	2	2	0	0	0	2	0	3	3	3	2	3	3	3	2	3	3	3	3			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:61483616C>T	ENST00000424789.2	+	19	3349	c.3345C>T	c.(3343-3345)acC>acT	p.T1115T	AC015923.1_ENST00000431604.1_RNA|RP11-269G24.3_ENST00000583552.1_RNA|TANC2_ENST00000389520.4_Silent_p.T1115T	NM_025185.3	NP_079461.2	Q9HCD6	TANC2_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 2	1115							binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(15)|ovary(2)|upper_aerodigestive_tract(3)	44						ATCTAGGAACCGTGGACTTTC	0.502											OREG0024637	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	61483616	C	T	61483616	2	4	751	1	0	0	0	0	0	0	0	1	15642	639	23	1		1	TANC2	17	61483616	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	13036162	61483616	19711594	46	56579											
SIRT7	51547	broad.mit.edu	37	chr17	79872257	79872257	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ttcaaaggctgccccaacgtCcccctctccccaaagtgcac	9	7	6	19	1	2	0	1	0	1	0	4	0	3	0	6	1	3	2	6	1	3	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr17:79872257C>T	ENST00000328666.6	-	7	791	c.729G>A	c.(727-729)ggG>ggA	p.G243G		NM_016538.2	NP_057622.1	Q9NRC8	SIRT7_HUMAN	sirtuin 7	243	Deacetylase sirtuin-type.				chromatin silencing|positive regulation of transcription on exit from mitosis|protein deacetylation|rRNA transcription	cytoplasm|nucleolus organizer region	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ binding|protein binding|zinc ion binding	p.G243G(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|upper_aerodigestive_tract(1)	13	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0165)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GCCCCAACGTCCCCCTCTCCC	0.637													T	79872257	C	T	79872257	2	4	751	1	0	0	0	0	0	0	0	1	14437	842	30	2		2	SIRT7	17	79872257	Silent	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	18388641	79872257	1322953	47	56580											
ABCA7	10347	broad.mit.edu	37	chr19	1041546	1041546	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgctgtggcctctcttccTcttcttcatcctggtggctg	2	17	9	13	0	4	0	1	0	3	0	7	0	6	0	3	3	1	2	3	3	0	4			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:1041546T>C	ENST00000263094.6	+	3	335	c.104T>C	c.(103-105)cTc>cCc	p.L35P	ABCA7_ENST00000433129.1_Missense_Mutation_p.L35P	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	35					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CCTCTCTTCCTCTTCTTCATC	0.647													C	1041546	T	C	1041546	3	2	751	1	0	0	0	0	1	0	0	0	37	1551	54	3	110	3	ABCA7	19	1041546	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08		1041546	58087437	48	56581											
AP3D1	8943	broad.mit.edu	37	chr19	2129435	2129435	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggccagctcgcagatgacaTtgacggcagccgactgaacc	10	6	12	13	3	0	4	0	3	0	1	1	5	0	4	3	2	3	3	3	2	1	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:2129435T>C	ENST00000355272.6	-	7	820	c.614A>G	c.(613-615)aAt>aGt	p.N205S	AP3D1_ENST00000356926.4_Intron|AP3D1_ENST00000345016.5_Missense_Mutation_p.N205S|AP3D1_ENST00000350812.6_Intron	NM_001261826.1	NP_001248755.1	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	205					eye pigment biosynthetic process|intracellular protein transport|regulation of sequestering of zinc ion|vesicle-mediated transport	endosome membrane|Golgi membrane|membrane coat	binding|protein transporter activity			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		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)		GCAGATGACATTGACGGCAGC	0.577													C	2129435	T	C	2129435	3	2	751	1	0	0	0	0	1	0	0	0	748	1493	52	3	3101	3	AP3D1	19	2129435	Missense_Mutation	SNP	T	TCGA-TM-A84J-01A-11D-A36O-08	1087889	2129435	56999548	49	56582											
ZNF146	7705	broad.mit.edu	37	chr19	36727929	36727929	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggaaaagccttctctcagcGaacatcacttattgtacatg	12	12	7	10	1	3	0	2	0	1	0	4	2	3	1	1	1	4	1	1	1	5	4			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:36727929G>A	ENST00000456324.1	+	3	2036	c.587G>A	c.(586-588)cGa>cAa	p.R196Q	ZNF146_ENST00000443387.2_Missense_Mutation_p.R196Q|ZNF565_ENST00000355114.5_Intron	NM_001099638.1|NM_001099639.1	NP_001093108.1|NP_001093109.1	Q15072	OZF_HUMAN	zinc finger protein 146	196					regulation of transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|heparin binding|zinc ion binding			kidney(1)|large_intestine(2)|lung(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	11	Esophageal squamous(110;0.162)					TTCTCTCAGCGAACATCACTT	0.418													A	36727929	G	A	36727929	3	1	751	1	0	0	0	0	1	0	0	0	17834	1058	37	1	589	1	ZNF146	19	36727929	Missense_Mutation	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	34598494	36727929	22401054	50	56583											
PRR12	57479	broad.mit.edu	37	chr19	50099877	50099877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctgggggccttcttgcaaaAgagccctccgcccccacctc	6	7	10	18	1	1	1	0	0	1	1	3	1	2	1	6	2	2	2	6	2	2	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:50099877A>G	ENST00000418929.2	+	4	2297	c.2285A>G	c.(2284-2286)aAg>aGg	p.K762R		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	470							DNA binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		TTCTTGCAAAAGAGCCCTCCG	0.697													G	50099877	A	G	50099877	3	3	751	1	0	0	0	0	1	0	0	0	12670	72	3	3	2299	3	PRR12	19	50099877	Missense_Mutation	SNP	A	TCGA-TM-A84J-01A-11D-A36O-08	13371948	50099877	9029106	51	56584											
ZNF671	79891	broad.mit.edu	37	chr19	58232671	58232671	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcttcatgctgctgagagaGgcctgatgctgaagaaggcc	9	8	15	9	0	1	5	1	3	0	2	1	6	1	5	2	3	3	4	2	3	2	1			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58232671G>A	ENST00000317398.6	-	4	878	c.783C>T	c.(781-783)gcC>gcT	p.A261A	ZNF671_ENST00000335820.3_Silent_p.A163A|AC003006.7_ENST00000599221.1_Intron|AC003006.7_ENST00000594684.1_Intron	NM_024833.2	NP_079109.2	Q8TAW3	ZN671_HUMAN	zinc finger protein 671	261					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(1)|large_intestine(6)|liver(1)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Breast(46;0.147)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TGCTGAGAGAGGCCTGATGCT	0.517													A	58232671	G	A	58232671	2	1	751	1	0	0	0	0	0	0	0	1	18179	987	35	2		2	ZNF671	19	58232671	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08	8132794	58232671	896312	52	56585											
ZNF446	55663	broad.mit.edu	37	chr19	58991631	58991631	+	Frame_Shift_Del	DEL	T	T	-																															tgggagggcttgtctggggcTgccactcctgcccccactgt																										TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr19:58991631delT	ENST00000594369.1	+	7	1272	c.891delT	c.(889-891)gctfs	p.A298fs	ZNF446_ENST00000596341.1_Intron|ZNF446_ENST00000335841.4_Frame_Shift_Del_p.L269fs	NM_017908.2	NP_060378.1	Q9NWS9	ZN446_HUMAN	zinc finger protein 446	298	Pro-rich.				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	8		all_cancers(17;1.81e-17)|all_epithelial(17;1.21e-12)|Lung NSC(17;2.8e-05)|all_lung(17;0.000139)|Colorectal(82;0.000147)|Renal(17;0.00528)|all_neural(62;0.0133)|Ovarian(87;0.156)|Medulloblastoma(540;0.232)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0164)|Lung(386;0.179)		TGTCTGGGGCTGCCACTCCTG	0.721													-	58991631	T	-	58991631	7	5	751	1	0	1	0	1	0	0	0	0	18020	1567	55	0	913	0	ZNF446	19	58991631	Frame_Shift_Del	DEL	T	TCGA-TM-A84J-01A-11D-A36O-08	758960	58991631	137352	53	56586											
APOL5	80831	broad.mit.edu	37	chr22	36116679	36116679	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tacggaggtgaggtctggggGaagtccccagaacctgagtt	9	8	16	8	1	1	3	0	2	1	1	2	5	2	5	3	5	2	1	3	5	3	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:36116679G>A	ENST00000249044.2	+	2	120	c.120G>A	c.(118-120)ggG>ggA	p.G40G		NM_030642.1	NP_085145.1	Q9BWW9	APOL5_HUMAN	apolipoprotein L, 5	40					lipid metabolic process|lipid transport|lipoprotein metabolic process	cytoplasm|extracellular region	high-density lipoprotein particle binding|lipid binding|protein binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|skin(2)|urinary_tract(1)	19						AGGTCTGGGGGAAGTCCccag	0.512													A	36116679	G	A	36116679	2	1	751	1	0	0	0	0	0	0	0	1	812	1161	41	2		2	APOL5	22	36116679	Silent	SNP	G	TCGA-TM-A84J-01A-11D-A36O-08		36116679	15187887	54	56587											
CACNA1I	8911	broad.mit.edu	37	chr22	40037050	40037050	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctacgactttggggcggggCgccaggacctcaatgccagc	7	7	14	13	3	2	0	1	0	1	0	2	2	2	1	3	5	3	0	3	5	2	2			TCGA-TM-A84J-01A-11D-A36O-08	TCGA-TM-A84J-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4929553-67d7-45f4-ab30-e8218b0fe697	7a11066b-492d-4df1-8136-7bd2739786ba	g.chr22:40037050C>T	ENST00000336649.4	+	8	919	c.919C>T	c.(919-921)Cgc>Tgc	p.R307C	CACNA1I_ENST00000400164.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000407673.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000402142.3_Missense_Mutation_p.R307C|CACNA1I_ENST00000404898.1_Missense_Mutation_p.R307C|CACNA1I_ENST00000401624.1_Missense_Mutation_p.R307C			Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	307					axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)	TGGGGCGGGGCGCCAGGACCT	0.617													T	40037050	C	T	40037050	3	4	751	1	0	0	0	0	1	0	0	0	2572	768	27	1	941	1	CACNA1I	22	40037050	Missense_Mutation	SNP	C	TCGA-TM-A84J-01A-11D-A36O-08	3920371	40037050	11267516	55	56588											
EIF4G3	8672	broad.mit.edu	37	chr1	21177847	21177847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggtctccagcatctctctccGctgctcttcttgagactgat	5	14	8	14	1	5	2	0	2	5	1	8	3	5	2	2	1	2	3	2	1	0	2			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:21177847G>A	ENST00000602326.1	-	26	4109	c.3526C>T	c.(3526-3528)Cgg>Tgg	p.R1176W	EIF4G3_ENST00000264211.8_Missense_Mutation_p.R1170W|EIF4G3_ENST00000536266.1_Missense_Mutation_p.R774W|EIF4G3_ENST00000374935.3_Missense_Mutation_p.R890W|EIF4G3_ENST00000374937.3_Missense_Mutation_p.R1176W|EIF4G3_ENST00000400422.1_Missense_Mutation_p.R1170W|EIF4G3_ENST00000537738.1_Missense_Mutation_p.R660W	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1170					interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ATCTCTCTCCGCTGCTCTTCT	0.522													A	21177847	G	A	21177847	3	1	752	1	0	0	0	0	1	0	0	0	5079	1086	38	1	1289	1	EIF4G3	1	21177847	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		21177847	228072774	1	56589											
UBXN11	91544	broad.mit.edu	37	chr1	26629321	26629321	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tacccaggattcataggctcCgagggcaggggcacttttcg	8	9	13	11	2	1	0	1	0	0	0	3	2	2	1	2	5	1	3	2	5	2	5			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:26629321C>T	ENST00000314675.7	-	2	133	c.54G>A	c.(52-54)tcG>tcA	p.S18S	UBXN11_ENST00000436301.2_Intron|UBXN11_ENST00000535108.1_Intron|UBXN11_ENST00000374217.2_Silent_p.S18S|UBXN11_ENST00000374222.1_Silent_p.S18S|UBXN11_ENST00000357089.4_Silent_p.S18S|UBXN11_ENST00000374221.3_Silent_p.S18S|UBXN11_ENST00000374223.1_Intron	NM_001077262.1	NP_001070730.1	Q5T124	UBX11_HUMAN	UBX domain protein 11	18						cytoplasm|cytoskeleton		p.S18S(1)		endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(3)|upper_aerodigestive_tract(3)	23						TCATAGGCTCCGAGGGCAGGG	0.547													T	26629321	C	T	26629321	2	4	752	1	0	0	0	0	0	0	0	1	17015	639	23	1		1	UBXN11	1	26629321	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	5451474	26629321	222621300	2	56590											
DPH5	51611	broad.mit.edu	37	chr1	101458271	101458271	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggtttacactcatataccGtggaggttcatagatcttcc	9	15	8	9	1	3	1	2	0	1	1	4	2	4	2	2	3	2	2	2	3	4	8	rs116634893	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:101458271G>A	ENST00000370109.3	-	7	668	c.556C>T	c.(556-558)Cgg>Tgg	p.R186W	DPH5_ENST00000370105.3_5'UTR|DPH5_ENST00000488176.1_Missense_Mutation_p.R186W|DPH5_ENST00000342173.7_Missense_Mutation_p.R186W|DPH5_ENST00000427040.2_Intron	NM_001077394.1|NM_001077395.1|NM_015958.2	NP_001070862.1|NP_001070863.1|NP_057042.2	Q9H2P9	DPH5_HUMAN	diphthamide biosynthesis 5	186					peptidyl-diphthamide biosynthetic process from peptidyl-histidine		diphthine synthase activity			endometrium(2)|large_intestine(1)|lung(4)	7		all_epithelial(167;3.1e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0385)|all cancers(265;0.043)|COAD - Colon adenocarcinoma(174;0.151)|Colorectal(144;0.173)|Lung(183;0.198)		CTCATATACCGTGGAGGTTCA	0.418													A	101458271	G	A	101458271	3	1	752	1	0	0	0	0	1	0	0	0	4762	1144	40	1	309	1	DPH5	1	101458271	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	74828950	101458271	147792350	3	56591											
USH2A	7399	broad.mit.edu	37	chr1	215848559	215848559	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atattcacactgcgtccatgGttgcaaacctgtgtcattat	10	14	7	10	1	2	0	2	0	0	0	3	0	3	0	2	1	3	2	2	1	3	4			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr1:215848559G>T	ENST00000366943.2	-	63	13080	c.12694C>A	c.(12694-12696)Cca>Aca	p.P4232T	USH2A_ENST00000307340.3_Missense_Mutation_p.P4232T			O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4232	Fibronectin type-III 27.		P -> R (in USH2A).		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)		TGCGTCCATGGTTGCAAACCT	0.423										HNSCC(13;0.011)			T	215848559	G	T	215848559	3	4	752	1	0	0	0	0	1	0	0	0	17138	1261	44	4	2954	4	USH2A	1	215848559	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	114390288	215848559	33402062	4	56592											
RAD51AP2	729475	broad.mit.edu	37	chr2	17697556	17697556	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgaggacaactcatattCtgacaagtaatttctcttat	12	16	6	7	0	3	2	1	2	2	0	4	3	3	3	0	1	1	2	0	1	5	6			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:17697556C>T	ENST00000399080.2	-	1	2150	c.2127G>A	c.(2125-2127)caG>caA	p.Q709Q		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	709								p.Q709H(1)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					AACTCATATTCTGACAAGTAA	0.313													T	17697556	C	T	17697556	2	4	752	1	0	0	0	0	0	0	0	1	13075	912	32	2		2	RAD51AP2	2	17697556	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08		17697556	225501817	5	56593											
TTC30B	150737	broad.mit.edu	37	chr2	178416956	178416956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agcccgaggcctgcagggcgGcaaaaaacttggagcatgca	12	4	14	11	2	0	0	0	0	0	0	0	2	0	1	2	4	5	4	2	4	3	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr2:178416956G>A	ENST00000408939.3	-	1	786	c.536C>T	c.(535-537)gCc>gTc	p.A179V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B					Missing (in Ref. 1; BAB70953).	cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTGCAGGGCGGCAAAAAACTT	0.542													A	178416956	G	A	178416956	3	1	752	1	0	0	0	0	1	0	0	0	16801	1203	42	2	1465	2	TTC30B	2	178416956	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	160719400	178416956	64782417	6	56594											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	752	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	30696156	209113112	34086261	7	56595											
CXCR6	10663	broad.mit.edu	37	chr3	45988956	45988956	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgaggacaattccaagacttTttctgcctcccacaatgtgg	10	12	8	11	0	1	2	0	1	1	1	3	3	3	3	3	2	1	0	3	2	3	3			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr3:45988956T>C	ENST00000458629.1	+	1	2446	c.983T>C	c.(982-984)tTt>tCt	p.F328S	CXCR6_ENST00000457814.1_Missense_Mutation_p.F328S|FYCO1_ENST00000438446.1_Intron|CXCR6_ENST00000438735.1_Missense_Mutation_p.F328S|FYCO1_ENST00000535325.1_Intron|FYCO1_ENST00000296137.2_Intron|CXCR6_ENST00000304552.4_Missense_Mutation_p.F328S			O00574	CXCR6_HUMAN	chemokine (C-X-C motif) receptor 6	328					viral genome replication	integral to plasma membrane	coreceptor activity			central_nervous_system(1)|endometrium(1)|kidney(3)|lung(1)|prostate(1)|skin(1)	8				BRCA - Breast invasive adenocarcinoma(193;0.00113)|KIRC - Kidney renal clear cell carcinoma(197;0.0172)|Kidney(197;0.0203)		TCCAAGACTTTTTCTGCCTCC	0.483													C	45988956	T	C	45988956	3	2	752	1	0	0	0	0	1	0	0	0	4128	1841	64	3	985	3	CXCR6	3	45988956	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		45988956	152033474	8	56596											
RUFY3	22902	broad.mit.edu	37	chr4	71659525	71659525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgccaggctgagcgaagccGccaatctgctgagttggaca	9	6	14	12	3	1	2	0	2	1	0	1	4	1	3	3	2	3	3	3	2	2	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:71659525G>A	ENST00000381006.3	+	13	1940	c.1361G>A	c.(1360-1362)cGc>cAc	p.R454H	RUFY3_ENST00000502653.1_Missense_Mutation_p.R401H	NM_001037442.2	NP_001032519.1	Q7L099	RUFY3_HUMAN	RUN and FYVE domain containing 3	291					negative regulation of axonogenesis	filopodium|growth cone				endometrium(1)|kidney(3)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	16		all_hematologic(202;0.248)	Lung(101;0.235)			GAGCGAAGCCGCCAATCTGCT	0.507													A	71659525	G	A	71659525	3	1	752	1	0	0	0	0	1	0	0	0	13831	1087	38	1	1854	1	RUFY3	4	71659525	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		71659525	119494751	9	56597											
INTU	27152	broad.mit.edu	37	chr4	128629783	128629783	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atttgggaaacttgaaaaagGaccttccagaaaaagaatta	19	9	8	5	0	0	3	0	1	0	2	1	5	1	5	2	2	1	0	2	2	7	4			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr4:128629783G>A	ENST00000335251.6	+	13	2432	c.2329G>A	c.(2329-2331)Gac>Aac	p.D777N		NM_015693.3	NP_056508.2	Q9ULD6	PDZD6_HUMAN	inturned planar cell polarity protein											breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						CTTGAAAAAGGACCTTCCAGA	0.303													A	128629783	G	A	128629783	3	1	752	1	0	0	0	0	1	0	0	0	7844	1174	41	2	2379	2	INTU	4	128629783	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	56970258	128629783	62524493	10	56598											
TMEM171	134285	broad.mit.edu	37	chr5	72419433	72419433	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tggggctgtgatcctggcccGctcccgggcgcaacttcagc	4	8	14	15	3	1	1	1	1	0	0	3	1	3	1	3	4	2	3	3	4	1	1	rs151305324		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr5:72419433G>A	ENST00000454765.2	+	2	706	c.233G>A	c.(232-234)cGc>cAc	p.R78H	TMEM171_ENST00000287773.5_Missense_Mutation_p.R78H			Q8WVE6	TM171_HUMAN	transmembrane protein 171	78						integral to membrane				endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|prostate(1)|stomach(1)	15		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.87e-54)|Lung(70;0.115)		ATCCTGGCCCGCTCCCGGGCG	0.647													A	72419433	G	A	72419433	3	1	752	1	0	0	0	0	1	0	0	0	16188	1087	38	1	235	1	TMEM171	5	72419433	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		72419433	108495827	11	56599											
MYLK4	340156	broad.mit.edu	37	chr6	2679602	2679602	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ttcaggggcgagaaattctgGggttccaaagttcaccttca	10	11	11	9	1	4	1	3	0	1	1	5	2	5	1	2	4	0	2	2	4	2	5			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:2679602G>C	ENST00000274643.7	-	9	1141	c.799C>G	c.(799-801)Cca>Gca	p.P267A	MYLK4_ENST00000268446.5_Missense_Mutation_p.P267A	NM_001012418.3	NP_001012418.2	Q86YV6	MYLK4_HUMAN	myosin light chain kinase family, member 4	267	Protein kinase.						ATP binding|protein serine/threonine kinase activity			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23	Ovarian(93;0.0412)	all_hematologic(90;0.0897)				AGAAATTCTGGGGTTCCAAAG	0.448													C	2679602	G	C	2679602	3	2	752	1	0	0	0	0	1	0	0	0	10135	1232	43	4	383	4	MYLK4	6	2679602	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		2679602	168435465	12	56600											
ELOVL2	54898	broad.mit.edu	37	chr6	11005622	11005622	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacctctgccagcatgtacgCggagagaagtgtgattccaa	11	9	11	10	2	1	2	0	1	1	1	2	4	2	3	3	1	4	2	3	1	4	3	rs146714276	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:11005622C>T	ENST00000354666.3	-	3	321	c.238G>A	c.(238-240)Gcg>Acg	p.A80T		NM_017770.3	NP_060240.3	Q9NXB9	ELOV2_HUMAN	ELOVL fatty acid elongase 2	80					fatty acid elongation, polyunsaturated fatty acid|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process|very long-chain fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	fatty acid elongase activity|protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|stomach(1)|upper_aerodigestive_tract(2)	14	Breast(50;0.0418)|Ovarian(93;0.0919)	all_hematologic(90;0.117)	Epithelial(50;0.176)			AGCATGTACGCGGAGAGAAGT	0.438													T	11005622	C	T	11005622	3	4	752	1	0	0	0	0	1	0	0	0	5115	768	27	1	676	1	ELOVL2	6	11005622	Missense_Mutation	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	8326020	11005622	160109445	13	56601											
TRERF1	55809	broad.mit.edu	37	chr6	42210985	42210985	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caacttagcagcttcactcaCcacacaatcgtcgatgattt	12	11	5	13	2	2	1	2	1	0	0	4	2	2	1	1	0	3	2	1	0	3	3			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:42210985C>T	ENST00000541110.1	-	15	3488		c.e15+1		TRERF1_ENST00000372922.4_Splice_Site|TRERF1_ENST00000372917.4_Splice_Site|TRERF1_ENST00000354325.2_Splice_Site|TRERF1_ENST00000340840.2_Splice_Site			Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1						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)			GCTTCACTCACCACACAATCG	0.542													T	42210985	C	T	42210985	5	4	752	1	0	0	0	0	0	0	1	0	16576	521	18	2	758	2	TRERF1	6	42210985	Splice_Site	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	31205363	42210985	128904082	14	56602											
ROS1	6098	broad.mit.edu	37	chr6	117704543	117704543	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttccccatttagtctggtGctttccactgaatagagtgt	7	16	8	10	0	1	2	0	1	1	1	3	2	3	2	3	1	1	1	3	1	3	5			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr6:117704543G>T	ENST00000368508.3	-	16	2631	c.2433C>A	c.(2431-2433)agC>agA	p.S811R	ROS1_ENST00000368507.3_Missense_Mutation_p.S806R|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	811					transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		TTAGTCTGGTGCTTTCCACTG	0.418			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								T	117704543	G	T	117704543	3	4	752	1	0	0	0	0	1	0	0	0	13622	1310	46	4	4722	4	ROS1	6	117704543	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	75493558	117704543	53410524	15	56603											
ABCB5	340273	broad.mit.edu	37	chr7	20721141	20721141	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgtaggcgagcaaaggtcGgactacaatcgtggtagcac	11	8	13	9	3	1	0	0	0	1	0	3	2	1	1	0	4	3	4	0	4	5	3	rs147800155	by1000genomes	TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:20721141G>A	ENST00000404938.2	+	15	2373	c.1721G>A	c.(1720-1722)cGg>cAg	p.R574Q	ABCB5_ENST00000258738.6_Missense_Mutation_p.R129Q	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	129	ABC transporter 2.				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						AGCAAAGGTCGGACTACAATC	0.413													A	20721141	G	A	20721141	3	1	752	1	0	0	0	0	1	0	0	0	44	1116	39	1	1816	1	ABCB5	7	20721141	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		20721141	138417522	16	56604											
PTPN12	5782	broad.mit.edu	37	chr7	77256458	77256458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	taagttcagatctaaatgtcGgtgatacttcccagaattct	12	14	7	8	1	3	3	1	1	2	2	5	3	4	3	1	1	1	1	1	1	5	6			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr7:77256458G>A	ENST00000248594.6	+	13	1734	c.1462G>A	c.(1462-1464)Ggt>Agt	p.G488S	PTPN12_ENST00000435495.2_Missense_Mutation_p.G358S|PTPN12_ENST00000415482.2_Missense_Mutation_p.G369S	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	488						soluble fraction	non-membrane spanning protein tyrosine phosphatase activity|SH3 domain binding			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						TCTAAATGTCGGTGATACTTC	0.383													A	77256458	G	A	77256458	3	1	752	1	0	0	0	0	1	0	0	0	12867	1116	39	1	1512	1	PTPN12	7	77256458	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08	56535317	77256458	81882205	17	56605											
PRSS3	5646	broad.mit.edu	37	chr9	33797829	33797829	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgccctgcccatcagccGcatccaggtgagactgggag	7	6	13	15	1	1	1	1	1	0	1	2	3	2	2	5	2	3	1	5	2	0	0	rs138654302		TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:33797829G>A	ENST00000361005.5	+	3	374	c.374G>A	c.(373-375)cGc>cAc	p.R125H	PRSS3_ENST00000342836.4_Missense_Mutation_p.R82H|PRSS3_ENST00000429677.3_Missense_Mutation_p.R61H|PRSS3_ENST00000379405.3_Missense_Mutation_p.R68H|RP11-133O22.6_ENST00000454429.2_RNA	NM_007343.3	NP_031369	P35030	TRY3_HUMAN	protease, serine, 3	125	Peptidase S1.				digestion|endothelial cell migration|zymogen activation	extracellular space	calcium ion binding|protein binding|serine-type endopeptidase activity|serine-type peptidase activity			large_intestine(3)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	13			LUSC - Lung squamous cell carcinoma(29;0.0176)			CCCATCAGCCGCATCCAGGTG	0.577													A	33797829	G	A	33797829	3	1	752	1	0	0	0	0	1	0	0	0	12707	1087	38	1	428	1	PRSS3	9	33797829	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		33797829	107415602	18	56606											
OR1L4	254973	broad.mit.edu	37	chr9	125486633	125486633	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcctctatggccatcgAccggctggtggccatctgca	5	9	13	14	2	2	0	0	0	2	0	3	1	2	0	4	5	1	3	4	5	1	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr9:125486633A>G	ENST00000259466.1	+	1	365	c.365A>G	c.(364-366)gAc>gGc	p.D122G		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						ATGGCCATCGACCGGCTGGTG	0.498													G	125486633	A	G	125486633	3	3	752	1	0	0	0	0	1	0	0	0	11041	275	10	3	367	3	OR1L4	9	125486633	Missense_Mutation	SNP	A	TCGA-TM-A84L-01A-11D-A36O-08	91688804	125486633	15726798	19	56607											
SLCO1B1	10599	broad.mit.edu	37	chr12	21392085	21392086	+	Frame_Shift_Ins	INS	-	-	T																															aaataaaaataaacattttgINStcccttctgctggggcagat																										TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr12:21392085_21392086insT	ENST00000256958.2	+	15	2134_2135	c.2038_2039insT	c.(2038-2040)gtcfs	p.V680fs		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	680					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TAAACATTTTGTCCCTTCTGCT	0.351													T	21392086	-	T	21392085	7	5	752	1	0	1	1	0	0	0	0	0	14817	1377	48	0	2092	0	SLCO1B1	12	21392085	Frame_Shift_Ins	INS	-	TCGA-TM-A84L-01A-11D-A36O-08		21392085	112459810	20	56608											
RBL2	5934	broad.mit.edu	37	chr16	53504686	53504686	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttagcagctgtccgccttcGggatctctgtgccaaactag	7	12	10	12	2	1	0	0	0	1	0	4	1	2	1	3	1	4	2	3	1	3	4			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr16:53504686G>A	ENST00000262133.6	+	17	2692	c.2555G>A	c.(2554-2556)cGg>cAg	p.R852Q	RBL2_ENST00000379935.4_3'UTR|RBL2_ENST00000544545.1_Intron	NM_005611.3	NP_005602.3	Q08999	RBL2_HUMAN	retinoblastoma-like 2 (p130)	852	Domain B.|Pocket; binds E1A.				cell cycle|chromatin modification|regulation of cell cycle|regulation of lipid kinase activity|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.R852L(1)		breast(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						GTCCGCCTTCGGGATCTCTGT	0.383													A	53504686	G	A	53504686	3	1	752	1	0	0	0	0	1	0	0	0	13198	1116	39	1	2621	1	RBL2	16	53504686	Missense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		53504686	36850067	21	56609											
TP53	7157	broad.mit.edu	37	chr17	7578208	7578208	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagggcaccaccacactaTgtcgaaaagtgtttctgtca	12	10	8	11	1	2	0	1	0	1	0	3	1	2	0	2	1	0	2	2	1	4	3			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578208T>C	ENST00000420246.2	-	6	773	c.641A>G	c.(640-642)cAt>cGt	p.H214R	TP53_ENST00000455263.2_Missense_Mutation_p.H214R|TP53_ENST00000269305.4_Missense_Mutation_p.H214R|TP53_ENST00000445888.2_Missense_Mutation_p.H214R|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.H214R|TP53_ENST00000413465.2_Missense_Mutation_p.H214R	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	214	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		H -> D (in sporadic cancers; somatic mutation).|H -> P (in a sporadic cancer; somatic mutation).|H -> Q (in sporadic cancers; somatic mutation).|H -> R (in sporadic cancers; somatic mutation).|H -> Y (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.H214R(61)|p.0?(8)|p.?(5)|p.H82R(4)|p.H214fs*33(4)|p.H121R(4)|p.H214fs*5(2)|p.D208fs*1(1)|p.H82fs*>9(1)|p.T211fs*28(1)|p.R213_S215>X(1)|p.D207_V216del10(1)|p.R213fs*32(1)|p.H121fs*33(1)|p.T211_S215delTFRHS(1)|p.R209fs*6(1)|p.D208_V216delDRNTFRHSV(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)		CACCACACTATGTCGAAAAGT	0.542		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)			C	7578208	T	C	7578208	3	2	752	1	0	0	0	0	1	0	0	0	16482	1464	51	3	653	3	TP53	17	7578208	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		7578208	73617002	22	56610			1	91		2	2	43	N	T	3.934443e-05
TP53	7157	broad.mit.edu	37	chr17	7578250	7578250	+	Frame_Shift_Del	DEL	T	T	-																															ccaaatactccacacgcaaaTttccttccactcggataaga																										TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:7578250delT	ENST00000420246.2	-	6	731	c.599delA	c.(598-600)aatfs	p.N200fs	TP53_ENST00000445888.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.N200fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Frame_Shift_Del_p.N200fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.N200fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	200	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		N -> D (in sporadic cancers; somatic mutation).|N -> I (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> P (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|N -> S (in sporadic cancers; somatic mutation).|N -> T (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.0?(8)|p.?(5)|p.N200fs*47(2)|p.N200I(2)|p.N200S(2)|p.E198_L201>V(1)|p.N200fs*4(1)|p.E198fs*7(1)|p.N200fs*9(1)|p.N200fs*8(1)|p.P191fs*6(1)|p.N200T(1)|p.G199fs*42(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)		CACACGCAAATTTCCTTCCAC	0.547		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)			-	7578250	T	-	7578250	7	5	752	1	0	1	0	1	0	0	0	0	16482	1493	52	0	695	0	TP53	17	7578250	Frame_Shift_Del	DEL	T	TCGA-TM-A84L-01A-11D-A36O-08	42	7578250	73616960	23	56611			1	91		2	2	43	N	T	3.934443e-05
SP2	6668	broad.mit.edu	37	chr17	45994066	45994066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacaggtgggggcggcaatgTgacgctcactctgcccgtca	7	7	15	12	3	3	1	2	1	1	0	3	2	3	1	1	4	1	2	1	4	1	0			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:45994066T>C	ENST00000376741.4	+	3	766	c.629T>C	c.(628-630)gTg>gCg	p.V210A	AC003665.1_ENST00000585280.1_RNA|AC003665.1_ENST00000411573.2_RNA|AC003665.1_ENST00000451140.2_RNA|AC003665.1_ENST00000433001.1_RNA	NM_003110.5	NP_003101.3	Q02086	SP2_HUMAN	Sp2 transcription factor	210					immune response|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|histone deacetylase binding|zinc ion binding			endometrium(1)|large_intestine(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	13						GGCGGCAATGTGACGCTCACT	0.627													C	45994066	T	C	45994066	3	2	752	1	0	0	0	0	1	0	0	0	15058	1696	59	3	639	3	SP2	17	45994066	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08	38415816	45994066	35201144	24	56612											
PDE6G	5148	broad.mit.edu	37	chr17	79620303	79620303	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccggccaccctggtggctgaCcggaactcagccttgggcgg	5	6	15	15	3	1	1	1	1	0	0	1	2	1	2	5	6	2	1	5	6	1	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr17:79620303C>G	ENST00000573076.1	-	2	658	c.183G>C	c.(181-183)cgG>cgC	p.R61R	PDE6G_ENST00000331056.5_Silent_p.R11R|PDE6G_ENST00000574777.1_Intron|PDE6G_ENST00000571224.1_Silent_p.R11R|PDE6G_ENST00000571004.1_Silent_p.R11R			P18545	CNRG_HUMAN	phosphodiesterase 6G, cGMP-specific, rod, gamma	11					platelet activation|visual perception	cytosol	3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|enzyme inhibitor activity			lung(2)|urinary_tract(1)	3	all_neural(118;0.0878)|all_lung(278;0.175)|Lung NSC(278;0.192)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0101)|OV - Ovarian serous cystadenocarcinoma(97;0.0739)			TGGTGGCTGACCGGAACTCAG	0.637													G	79620303	C	G	79620303	2	3	752	1	0	0	0	0	0	0	0	1	11725	494	18	4		4	PDE6G	17	79620303	Silent	SNP	C	TCGA-TM-A84L-01A-11D-A36O-08	33626237	79620303	1574907	25	56613											
DSG2	1829	broad.mit.edu	37	chr18	29099814	29099814	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgcttcctaaacatcctcatTtagtgcggcaaaagcgcgcc	10	10	8	13	3	1	0	1	0	0	0	3	0	3	0	3	1	4	2	3	1	5	4			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr18:29099814T>G	ENST00000261590.8	+	3	339	c.130T>G	c.(130-132)Tta>Gta	p.L44V	DSG2_ENST00000585206.1_Missense_Mutation_p.L44V	NM_001943.3	NP_001934.2	Q14126	DSG2_HUMAN	desmoglein 2	44					cellular component disassembly involved in apoptosis|homophilic cell adhesion	desmosome|integral to membrane	calcium ion binding			breast(2)|central_nervous_system(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(17)|ovary(2)|prostate(4)|skin(2)|urinary_tract(1)	49			OV - Ovarian serous cystadenocarcinoma(10;0.0068)			ACATCCTCATTTAGTGCGGCA	0.423													G	29099814	T	G	29099814	3	3	752	1	0	0	0	0	1	0	0	0	4816	1838	64	5	140	5	DSG2	18	29099814	Missense_Mutation	SNP	T	TCGA-TM-A84L-01A-11D-A36O-08		29099814	48977434	26	56614											
LRP3	4037	broad.mit.edu	37	chr19	33698349	33698349	+	Frame_Shift_Del	DEL	C	C	-																															tgctcagcccaggacccgcaCccccaggtctccactgccag																										TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr19:33698349delC	ENST00000253193.7	+	7	2383	c.2181delC	c.(2179-2181)cacfs	p.H727fs	CTD-2540B15.13_ENST00000609744.1_RNA	NM_002333.3	NP_002324.2	O75074	LRP3_HUMAN	low density lipoprotein receptor-related protein 3	727					receptor-mediated endocytosis	coated pit|integral to membrane	receptor activity			breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|pancreas(2)	15	Esophageal squamous(110;0.137)					AGGACCCGCACCCCCAGGTCT	0.701													-	33698349	C	-	33698349	7	5	752	1	0	1	0	1	0	0	0	0	9028	506	18	0	2207	0	LRP3	19	33698349	Frame_Shift_Del	DEL	C	TCGA-TM-A84L-01A-11D-A36O-08		33698349	25430634	27	56615											
APOBEC3F	200316	broad.mit.edu	37	chr22	39448228	39448228	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggggaggtggccgagttcctGgccaggcacagcaacgtgaa	9	5	17	10	2	0	1	0	1	0	0	1	3	1	2	3	6	2	3	3	6	2	1			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chr22:39448228G>A	ENST00000308521.5	+	6	1230	c.873G>A	c.(871-873)ctG>ctA	p.L291L	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	299					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					CCGAGTTCCTGGCCAGGCACA	0.567													A	39448228	G	A	39448228	2	1	752	1	0	0	0	0	0	0	0	1	796	1335	47	2		2	APOBEC3F	22	39448228	Silent	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		39448228	11856338	28	56616											
ATRX	546	broad.mit.edu	37	chrX	76938326	76938326	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agactcagactgggtttgtcGtttctttttagaaattatag	10	17	9	5	1	2	3	1	0	1	3	3	3	2	3	0	1	0	2	0	1	4	7			TCGA-TM-A84L-01A-11D-A36O-08	TCGA-TM-A84L-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	24a012b9-073b-4885-ad00-da8d4ea47ab9	29f12a90-ffa1-4e84-b0a5-e4f88ca43a02	g.chrX:76938326G>A	ENST00000373344.5	-	9	2636	c.2422C>T	c.(2422-2424)Cga>Tga	p.R808*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R770*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	808					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)	tGGGTTTGTCGTTTCTTTTTA	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938326	G	A	76938326	4	1	752	1	0	0	0	0	0	1	0	0	1213	1153	40	1	5164	1	ATRX	23	76938326	Nonsense_Mutation	SNP	G	TCGA-TM-A84L-01A-11D-A36O-08		76938326	78332234	29	56617											
EIF4G3	8672	broad.mit.edu	37	chr1	21205843	21205843	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agacatcgacacatgtttgcGtaagccacagagaaactggg	14	7	11	9	2	0	2	0	0	0	2	1	4	0	2	1	1	3	2	1	1	2	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:21205843G>A	ENST00000602326.1	-	18	3028	c.2445C>T	c.(2443-2445)taC>taT	p.Y815Y	EIF4G3_ENST00000264211.8_Silent_p.Y809Y|EIF4G3_ENST00000374935.3_Silent_p.Y529Y|EIF4G3_ENST00000537738.1_Silent_p.Y299Y|EIF4G3_ENST00000536266.1_Silent_p.Y413Y|EIF4G3_ENST00000374937.3_Silent_p.Y815Y|EIF4G3_ENST00000400422.1_Silent_p.Y809Y	NM_001198802.1	NP_001185731.1	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	809	MIF4G.|eIF3/EIF4A-binding (By similarity).				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		ACATGTTTGCGTAAGCCACAG	0.443													A	21205843	G	A	21205843	2	1	753	1	0	0	0	0	0	0	0	1	5079	1140	40	1		1	EIF4G3	1	21205843	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		21205843	228044778	1	56618											
ARID1A	8289	broad.mit.edu	37	chr1	27097676	27097676	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcacatcaagcagtgctGccagctccttgaaaaagcag	12	7	11	11	0	1	1	1	1	0	0	2	1	2	1	2	1	5	5	2	1	3	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:27097676G>A	ENST00000324856.7	+	12	3636	c.3265G>A	c.(3265-3267)Gcc>Acc	p.A1089T	ARID1A_ENST00000457599.2_Missense_Mutation_p.A1089T|ARID1A_ENST00000374152.2_Missense_Mutation_p.A706T	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1089	ARID.				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		AAGCAGTGCTGCCAGCTCCTT	0.473			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								A	27097676	G	A	27097676	3	1	753	1	0	0	0	0	1	0	0	0	916	1319	46	2	3311	2	ARID1A	1	27097676	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5891833	27097676	222152945	2	56619											
FUBP1	8880	broad.mit.edu	37	chr1	78432598	78432598	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctgtattttgcatccagattCctgttgtatgcgtgagatct	7	17	9	8	1	1	2	0	1	1	2	3	3	3	2	2	0	2	4	2	0	2	6			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:78432598C>A	ENST00000370767.1	-	6	472	c.385G>T	c.(385-387)Gaa>Taa	p.E129*	FUBP1_ENST00000436586.2_Nonsense_Mutation_p.E150*|FUBP1_ENST00000370768.2_Nonsense_Mutation_p.E129*			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	129	KH 1.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						CATCCAGATTCCTGTTGTATG	0.318			"F, N"		oligodendroglioma								A	78432598	C	A	78432598	4	1	753	1	0	0	0	0	0	1	0	0	6144	864	30	4	1609	4	FUBP1	1	78432598	Nonsense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	51334922	78432598	170818023	3	56620											
SEC22B	9554	broad.mit.edu	37	chr1	145109584	145109584	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagctgccttccctaagacGttggcttttgcctacctaga	8	12	9	12	1	0	2	0	0	0	2	1	3	1	2	4	1	4	3	4	1	4	7			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:145109584G>A	ENST00000453618.1	+	0	573							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										TCCCTAAGACGTTGGCTTTTG	0.428													A	145109584	G	A	145109584	1	1	753	0	1	0	0	0	0	0	0	0	14082	1132	40	1		1	SEC22B	1	145109584	RNA	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	66676986	145109584	104141037	4	56621											
TNN	63923	broad.mit.edu	37	chr1	175106074	175106074	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgatttcttccaagtggcctCcagcaaggagcggtataagc	10	10	11	10	1	1	1	0	1	1	0	3	2	3	2	3	3	3	2	3	3	4	4			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:175106074C>T	ENST00000239462.4	+	17	3658	c.3545C>T	c.(3544-3546)tCc>tTc	p.S1182F		NM_022093.1	NP_071376.1	Q9UQP3	TENN_HUMAN	tenascin N	1182	Fibrinogen C-terminal.				cell growth|cell migration|signal transduction	extracellular space|proteinaceous extracellular matrix				NS(1)|central_nervous_system(2)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|liver(1)|lung(81)|ovary(5)|prostate(6)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(3)	156		Breast(1374;0.000962)		KIRC - Kidney renal clear cell carcinoma(1967;0.00198)		CAAGTGGCCTCCAGCAAGGAG	0.483													T	175106074	C	T	175106074	3	4	753	1	0	0	0	0	1	0	0	0	16423	855	30	2	3607	2	TNN	1	175106074	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	29996490	175106074	74144547	5	56622											
CAPN9	10753	broad.mit.edu	37	chr1	230898421	230898421	+	Frame_Shift_Del	DEL	T	T	-																															ctggcagcacagtgagtggcTggacgtggtgatcgatgacc																										TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:230898421delT	ENST00000354537.1	+	4	507	c.425delT	c.(424-426)ctgfs	p.L142fs	CAPN9_ENST00000271971.2_Frame_Shift_Del_p.L142fs|CAPN9_ENST00000366666.2_Frame_Shift_Del_p.L79fs|RP11-99J16__A.2_ENST00000412344.1_RNA	NM_016452.1	NP_057536.1	O14815	CAN9_HUMAN	calpain 9	142	Calpain catalytic.				digestion|proteolysis	intracellular	calcium ion binding|calcium-dependent cysteine-type endopeptidase activity			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	25	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.167)				AGTGAGTGGCTGGACGTGGTG	0.547													-	230898421	T	-	230898421	7	5	753	1	0	1	0	1	0	0	0	0	2658	1580	55	0	439	0	CAPN9	1	230898421	Frame_Shift_Del	DEL	T	TCGA-TM-A84M-01A-11D-A36O-08	55792347	230898421	18352200	6	56623											
EDARADD	128178	broad.mit.edu	37	chr1	236645924	236645924	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagtggcccaagcgggagcGtggagacccctccaggcact	8	4	16	13	2	0	1	0	0	0	1	1	4	1	3	4	5	2	1	4	5	1	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr1:236645924G>A	ENST00000359362.5	+	6	807	c.593G>A	c.(592-594)cGt>cAt	p.R198H	EDARADD_ENST00000334232.4_Missense_Mutation_p.R208H	NM_080738.3	NP_542776.1	Q8WWZ3	EDAD_HUMAN	EDAR-associated death domain	208	Death.				cell differentiation|signal transduction	cytoplasm		p.R208L(1)		endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|stomach(1)	12	Ovarian(103;0.0634)|Breast(184;0.247)	all_cancers(173;0.0232)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AAGCGGGAGCGTGGAGACCCC	0.582													A	236645924	G	A	236645924	3	1	753	1	0	0	0	0	1	0	0	0	4945	1145	40	1	680	1	EDARADD	1	236645924	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5747503	236645924	12604697	7	56624											
APOB	338	broad.mit.edu	37	chr2	21237441	21237441	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ataaggaagactcccagatgCcttctgaagccatgagctca	13	8	9	11	0	2	4	1	2	1	2	3	5	3	5	3	1	3	1	3	1	3	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:21237441C>G	ENST00000233242.1	-	24	3848	c.3721G>C	c.(3721-3723)Gca>Cca	p.A1241P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1241					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	CTCCCAGATGCCTTCTGAAGC	0.453													G	21237441	C	G	21237441	3	3	753	1	0	0	0	0	1	0	0	0	788	739	26	4	9994	4	APOB	2	21237441	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		21237441	221961932	8	56625											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	753	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	187875671	209113112	34086261	9	56626											
ADAMTS9	56999	broad.mit.edu	37	chr3	64527574	64527574	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagatcagtgtggcataagtGgctgggttggtcctcattgg	7	12	15	7	0	2	1	2	0	0	1	3	1	3	1	1	5	0	3	1	5	1	3			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:64527574G>A	ENST00000498707.1	-	33	5479	c.5137C>T	c.(5137-5139)Cac>Tac	p.H1713Y	ADAMTS9_ENST00000295903.4_Missense_Mutation_p.H1685Y	NM_182920.1	NP_891550.1	Q9P2N4	ATS9_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 9	1713	TSP type-1 15.				glycoprotein catabolic process|multicellular organismal development|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(9)|kidney(4)|large_intestine(17)|liver(4)|lung(43)|ovary(3)|prostate(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	100		Lung NSC(201;0.00682)		BRCA - Breast invasive adenocarcinoma(55;0.00142)|Kidney(15;0.00202)|KIRC - Kidney renal clear cell carcinoma(15;0.00221)		TGGCATAAGTGGCTGGGTTGG	0.443													A	64527574	G	A	64527574	3	1	753	1	0	0	0	0	1	0	0	0	273	1348	47	2	698	2	ADAMTS9	3	64527574	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		64527574	133494856	10	56627											
ATP6V1A	523	broad.mit.edu	37	chr3	113514767	113514767	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttctgatccagttacatctgCcactcttggtatcgttcagg	7	15	8	11	1	4	1	1	1	3	0	6	1	5	1	2	2	2	3	2	2	2	5			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr3:113514767C>T	ENST00000273398.3	+	11	1379	c.1271C>T	c.(1270-1272)gCc>gTc	p.A424V	ATP6V1A_ENST00000538620.1_Missense_Mutation_p.A391V	NM_001690.3	NP_001681.2	P38606	VATA_HUMAN	ATPase, H+ transporting, lysosomal 70kDa, V1 subunit A	424					ATP hydrolysis coupled proton transport|cellular iron ion homeostasis|insulin receptor signaling pathway|transferrin transport	cytosol|integral to plasma membrane|proton-transporting V-type ATPase, V1 domain	ATP binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|proton-transporting ATPase activity, rotational mechanism			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(17)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTTACATCTGCCACTCTTGGT	0.383													T	113514767	C	T	113514767	3	4	753	1	0	0	0	0	1	0	0	0	1182	739	26	2	1309	2	ATP6V1A	3	113514767	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	48987193	113514767	84507663	11	56628											
DMP1	1758	broad.mit.edu	37	chr4	88583167	88583167	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagggcctgggctctgaTgatcatcaatacatttatag	11	11	12	7	0	3	2	2	2	1	0	3	4	3	3	1	3	1	1	1	3	4	4			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:88583167T>A	ENST00000339673.6	+	6	336	c.237T>A	c.(235-237)gaT>gaA	p.D79E	DMP1_ENST00000282479.7_Missense_Mutation_p.D63E|RP11-742B18.1_ENST00000506480.1_RNA|RP11-742B18.1_ENST00000507894.1_RNA	NM_004407.3	NP_004398.1	Q13316	DMP1_HUMAN	dentin matrix acidic phosphoprotein 1	79					biomineral tissue development|ossification	cytoplasm|nucleus|proteinaceous extracellular matrix	calcium ion binding|integrin binding			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|pancreas(3)|prostate(1)|skin(1)|stomach(1)	32		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.227)		OV - Ovarian serous cystadenocarcinoma(123;0.000516)		TGGGCTCTGATGATCATCAAT	0.468													A	88583167	T	A	88583167	3	1	753	1	0	0	0	0	1	0	0	0	4622	1461	51	5	255	5	DMP1	4	88583167	Missense_Mutation	SNP	T	TCGA-TM-A84M-01A-11D-A36O-08		88583167	102571109	12	56629											
C4orf21	55345	broad.mit.edu	37	chr4	113540554	113540554	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatttccagaattgacaggtGagcaaaaataattttcttca	15	14	6	6	0	2	3	1	2	1	1	3	3	3	3	1	1	1	1	1	1	5	7			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:113540554G>A	ENST00000505019.1	-	6	769	c.644C>T	c.(643-645)tCa>tTa	p.S215L	C4orf21_ENST00000309071.5_Missense_Mutation_p.S215L|C4orf21_ENST00000445203.2_Missense_Mutation_p.S184L	NM_018392.4	NP_060862.3	Q86YA3	CD021_HUMAN	chromosome 4 open reading frame 21	215										breast(1)|central_nervous_system(2)|endometrium(3)|kidney(5)|large_intestine(6)|lung(21)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45		Ovarian(17;0.156)		OV - Ovarian serous cystadenocarcinoma(123;0.000676)		ATTGACAGGTGAGCAAAAATA	0.388													A	113540554	G	A	113540554	3	1	753	1	0	0	0	0	1	0	0	0	2276	1294	45	2	5762	2	C4orf21	4	113540554	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	24957387	113540554	77613722	13	56630											
NEK1	4750	broad.mit.edu	37	chr4	170476982	170476982	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccataaggaaatcctggaCgaactccaggcagaattcct	13	7	8	13	1	0	1	0	0	0	1	3	4	3	3	5	3	1	1	5	3	4	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr4:170476982C>T	ENST00000439128.2	-	17	2091	c.1451G>A	c.(1450-1452)cGt>cAt	p.R484H	NEK1_ENST00000510533.1_Intron|NEK1_ENST00000511633.1_Intron|NEK1_ENST00000512193.1_Intron|NEK1_ENST00000507142.1_Missense_Mutation_p.R484H	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	484					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	p.R484H(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		AAATCCTGGACGAACTCCAGG	0.413													T	170476982	C	T	170476982	3	4	753	1	0	0	0	0	1	0	0	0	10397	536	19	1	2397	1	NEK1	4	170476982	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	56936428	170476982	20677294	14	56631											
ARHGEF37	389337	broad.mit.edu	37	chr5	148989208	148989208	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ctactggtggacacgtaccgGaaggagccggagctgcagcg	9	5	16	11	4	0	0	0	0	0	0	0	4	0	4	2	5	6	3	2	5	3	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:148989208G>A	ENST00000333677.6	+	4	571	c.408G>A	c.(406-408)cgG>cgA	p.R136R		NM_001001669.2	NP_001001669.2	A1IGU5	ARH37_HUMAN	Rho guanine nucleotide exchange factor (GEF) 37	136	DH.				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity			large_intestine(5)|lung(6)|ovary(1)|prostate(2)|stomach(3)	17						ACACGTACCGGAAGGAGCCGG	0.572													A	148989208	G	A	148989208	2	1	753	1	0	0	0	0	0	0	0	1	909	1161	41	2		2	ARHGEF37	5	148989208	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		148989208	31926052	15	56632											
RUFY1	80230	broad.mit.edu	37	chr5	179028901	179028901	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgttcattttaggagttgcgGgagcttcaggacgagaaggc	9	11	15	6	2	2	1	2	0	0	1	2	5	2	4	0	4	2	3	0	4	2	5			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr5:179028901G>A	ENST00000319449.4	+	15	1782	c.1770G>A	c.(1768-1770)cgG>cgA	p.R590R	RUFY1_ENST00000437570.2_Silent_p.R482R|RUFY1_ENST00000393438.2_Silent_p.R482R|RUFY1_ENST00000377001.2_3'UTR|RP11-1379J22.2_ENST00000500262.1_RNA	NM_025158.4	NP_079434.3	Q96T51	RUFY1_HUMAN	RUN and FYVE domain containing 1	590					endocytosis|protein transport	early endosome membrane	lipid binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(11)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	26	all_cancers(89;0.00018)|all_epithelial(37;8.37e-05)|Renal(175;0.000159)|Lung NSC(126;0.00108)|all_lung(126;0.00195)	all_cancers(40;0.0322)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGGAGTTGCGGGAGCTTCAGG	0.478										HNSCC(44;0.11)			A	179028901	G	A	179028901	2	1	753	1	0	0	0	0	0	0	0	1	13829	1219	43	2		2	RUFY1	5	179028901	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	30039693	179028901	1886359	16	56633											
USP49	25862	broad.mit.edu	37	chr6	41773595	41773595	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagcatggcgaagggcgacActagggcccacttcccggac	9	4	15	13	3	0	0	0	0	0	0	1	4	1	2	2	5	1	1	2	5	2	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr6:41773595A>G	ENST00000394253.3	-	3	1456	c.1127T>C	c.(1126-1128)gTg>gCg	p.V376A	USP49_ENST00000373006.1_Missense_Mutation_p.V376A|USP49_ENST00000373009.3_Missense_Mutation_p.V376A|USP49_ENST00000373010.1_Missense_Mutation_p.V376A|USP49_ENST00000297229.2_Missense_Mutation_p.V376A			Q70CQ1	UBP49_HUMAN	ubiquitin specific peptidase 49	376					ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)|skin(2)	23	Ovarian(28;0.0919)|Colorectal(47;0.121)		STAD - Stomach adenocarcinoma(11;0.000204)|Epithelial(12;0.000309)|Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			GAAGGGCGACACTAGGGCCCA	0.597													G	41773595	A	G	41773595	3	3	753	1	0	0	0	0	1	0	0	0	17182	159	6	3	811	3	USP49	6	41773595	Missense_Mutation	SNP	A	TCGA-TM-A84M-01A-11D-A36O-08		41773595	129341472	17	56634											
GUSB	2990	broad.mit.edu	37	chr7	65439637	65439637	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgttggcaccaagccagcGaagcaggttgaagtccttca	11	7	12	11	2	1	1	1	1	0	0	2	2	2	1	3	2	4	4	3	2	3	3			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr7:65439637G>A	ENST00000304895.4	-	7	1250	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	GUSB_ENST00000345660.6_Missense_Mutation_p.R323C|GUSB_ENST00000421103.1_Missense_Mutation_p.R228C	NM_000181.3	NP_000172.2	P08236	BGLR_HUMAN	glucuronidase, beta	374			R -> C (in MPS7).		glycosaminoglycan catabolic process	lysosome	beta-glucuronidase activity|cation binding			breast(1)|cervix(2)|kidney(2)|large_intestine(4)|lung(10)|skin(1)	20						CCAAGCCAGCGAAGCAGGTTG	0.572													A	65439637	G	A	65439637	3	1	753	1	0	0	0	0	1	0	0	0	6957	1058	37	1	859	1	GUSB	7	65439637	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		65439637	93699026	18	56635											
RP1	6101	broad.mit.edu	37	chr8	55541377	55541377	+	Frame_Shift_Del	DEL	T	T	-																															gcagatattatcaaaccatcTttttttcctgggtctacccg																										TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr8:55541377delT	ENST00000220676.1	+	4	5083	c.4935delT	c.(4933-4935)tctfs	p.S1645fs		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	1645					axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	p.P1648fs*62(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TCAAACCATCTTTTTTTCCTG	0.378													-	55541377	T	-	55541377	7	5	753	1	0	1	0	1	0	0	0	0	13623	1596	56	0	4945	0	RP1	8	55541377	Frame_Shift_Del	DEL	T	TCGA-TM-A84M-01A-11D-A36O-08		55541377	90822645	19	56636											
KLF9	687	broad.mit.edu	37	chr9	73027912	73027912	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caggatggaggagggagagcGggctgggcgcgctgccagga	8	3	22	8	3	0	1	0	0	0	1	0	6	0	5	1	7	2	2	1	7	0	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:73027912G>A	ENST00000377126.2	-	1	1628	c.368C>T	c.(367-369)cCg>cTg	p.P123L		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	123					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						GAGGGAGAGCGGGCTGGGCGC	0.607													A	73027912	G	A	73027912	3	1	753	1	0	0	0	0	1	0	0	0	8411	1116	39	1	374	1	KLF9	9	73027912	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		73027912	68185519	20	56637											
PCSK5	5125	broad.mit.edu	37	chr9	78943012	78943012	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catgaaccctcgtgggagctGcatggccaacgagaagtgct	10	7	13	11	2	0	2	0	1	0	1	1	4	0	3	2	2	5	3	2	2	3	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr9:78943012G>A	ENST00000545128.1	+	32	4884	c.4346G>A	c.(4345-4347)tGc>tAc	p.C1449Y		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	674					anterior/posterior pattern formation|cell-cell signaling|cytokine biosynthetic process|embryo implantation|embryonic digestive tract development|embryonic skeletal system development|heart development|kidney development|limb morphogenesis|nerve growth factor processing|nerve growth factor receptor signaling pathway|peptide biosynthetic process|renin secretion into blood stream|respiratory tube development|signal peptide processing|viral assembly, maturation, egress, and release	extracellular space|Golgi lumen|stored secretory granule	peptide binding|serine-type endopeptidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						CGTGGGAGCTGCATGGCCAAC	0.597													A	78943012	G	A	78943012	3	1	753	1	0	0	0	0	1	0	0	0	11679	1334	46	2		2	PCSK5	9	78943012	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	5915100	78943012	62270419	21	56638											
FAM188A	80013	broad.mit.edu	37	chr10	15885222	15885222	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcatacctgaacaatccCgccaagaagacttctccgaa	14	8	5	14	2	2	3	1	1	1	2	4	4	3	3	4	0	2	0	4	0	7	3			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr10:15885222C>T	ENST00000277632.3	-	3	444	c.224G>A	c.(223-225)cGg>cAg	p.R75Q	FAM188A_ENST00000477891.1_5'UTR	NM_024948.2	NP_079224.1	Q9H8M7	F188A_HUMAN	family with sequence similarity 188, member A	75					apoptosis	nucleus	calcium ion binding			breast(2)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	22						TGAACAATCCCGCCAAGAAGA	0.343													T	15885222	C	T	15885222	3	4	753	1	0	0	0	0	1	0	0	0	5560	652	23	1	1165	1	FAM188A	10	15885222	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		15885222	119649525	22	56639											
ZDHHC5	25921	broad.mit.edu	37	chr11	57466676	57466676	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagttcctcctcagatgatTcaaagagatcacctttgggc	10	12	8	11	0	3	3	3	1	0	2	5	4	5	3	3	1	0	1	3	1	2	4			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr11:57466676T>C	ENST00000287169.3	+	11	3130	c.1768T>C	c.(1768-1770)Tca>Cca	p.S590P	ZDHHC5_ENST00000527985.1_Missense_Mutation_p.S537P	NM_015457.2	NP_056272.2	Q9C0B5	ZDHC5_HUMAN	zinc finger, DHHC-type containing 5	590						integral to membrane	acyltransferase activity|zinc ion binding			endometrium(6)|kidney(3)|large_intestine(3)|lung(5)|skin(1)	18						CTCAGATGATTCAAAGAGATC	0.607													C	57466676	T	C	57466676	3	2	753	1	0	0	0	0	1	0	0	0	17719	1783	62	3	1806	3	ZDHHC5	11	57466676	Missense_Mutation	SNP	T	TCGA-TM-A84M-01A-11D-A36O-08		57466676	77539840	23	56640											
FOXN4	121643	broad.mit.edu	37	chr12	109724566	109724566	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acagctgggggcaggaggtgGggcagggcagggcagggcag	8	2	24	7	0	0	0	0	0	0	0	0	1	0	1	0	9	1	6	0	9	0	0			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr12:109724566G>A	ENST00000355216.1	-	3	291	c.40C>T	c.(40-42)Cca>Tca	p.P14S	FOXN4_ENST00000299162.5_Intron			Q96NZ1	FOXN4_HUMAN	forkhead box N4	194					axon extension|embryo development|organ development|pattern specification process|regulation of heart contraction|regulation of sequence-specific DNA binding transcription factor activity|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			large_intestine(5)|lung(9)|ovary(2)	16						GCAGGAGGTGgggcagggcag	0.632													A	109724566	G	A	109724566	3	1	753	1	0	0	0	0	1	0	0	0	6073	1247	43	2		2	FOXN4	12	109724566	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		109724566	24127329	24	56641											
REM2	161253	broad.mit.edu	37	chr14	23354539	23354539	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctagtcgtttatgacatCtgggaacaggtgagaactaa	13	11	10	7	1	2	2	0	2	2	1	3	4	2	3	0	2	2	1	0	2	5	4			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr14:23354539C>A	ENST00000267396.4	+	3	633	c.510C>A	c.(508-510)atC>atA	p.I170I	REM2_ENST00000536884.1_Intron	NM_173527.2	NP_775798.2	Q8IYK8	REM2_HUMAN	RAS (RAD and GEM)-like GTP binding 2	170					regulation of transcription, DNA-dependent|small GTPase mediated signal transduction	intracellular|plasma membrane	ATP binding|GTP binding|transcription factor binding			breast(1)|central_nervous_system(1)|large_intestine(2)|ovary(1)	5	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.012)		TTTATGACATCTGGGAACAGG	0.507													A	23354539	C	A	23354539	2	1	753	1	0	0	0	0	0	0	0	1	13311	903	32	4		4	REM2	14	23354539	Silent	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		23354539	83995001	25	56642											
PLA2G4D	283748	broad.mit.edu	37	chr15	42363709	42363709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaactggtgaggtcataccaGgcatccagcaggttcaggga	11	7	14	9	0	2	1	2	1	0	0	3	3	3	2	2	5	3	3	2	5	2	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:42363709G>A	ENST00000290472.3	-	16	1708	c.1614C>T	c.(1612-1614)gcC>gcT	p.A538A		NM_178034.3	NP_828848.3	Q86XP0	PA24D_HUMAN	phospholipase A2, group IVD (cytosolic)	538	PLA2c.				phospholipid catabolic process	cytoplasmic vesicle membrane|cytosol	metal ion binding|phospholipase A2 activity			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(7)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(109;6.37e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;5.01e-09)|all_lung(180;2.24e-08)|Melanoma(134;0.019)|Ovarian(310;0.143)|Colorectal(260;0.245)		OV - Ovarian serous cystadenocarcinoma(18;4.9e-17)|GBM - Glioblastoma multiforme(94;1.02e-06)		GGTCATACCAGGCATCCAGCA	0.592													A	42363709	G	A	42363709	2	1	753	1	0	0	0	0	0	0	0	1	12081	987	35	2		2	PLA2G4D	15	42363709	Silent	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		42363709	60167683	26	56643											
C15orf38	348110	broad.mit.edu	37	chr15	90446605	90446605	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagcctcaagtttggccAatgaatctgaaagaagagat	14	10	9	8	0	2	4	1	2	1	2	3	5	3	4	3	1	1	1	3	1	5	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr15:90446605A>G	ENST00000357484.5	-	5	635	c.515T>C	c.(514-516)tTg>tCg	p.L172S	C15orf38-AP3S2_ENST00000398333.3_Missense_Mutation_p.L172S|C15orf38_ENST00000460685.1_Missense_Mutation_p.L76S	NM_001282380.1|NM_182616.2	NP_001269309.1|NP_872422.1			chromosome 15 open reading frame 38											breast(3)|endometrium(1)|large_intestine(3)|lung(2)|ovary(1)	10	Melanoma(11;0.0171)|Lung NSC(78;0.0181)|all_lung(78;0.0384)		BRCA - Breast invasive adenocarcinoma(143;0.0107)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.223)			AAGTTTGGCCAATGAATCTGA	0.502													G	90446605	A	G	90446605	3	3	753	1	0	0	0	0	1	0	0	0	1805	131	5	3	173	3	C15orf38	15	90446605	Missense_Mutation	SNP	A	TCGA-TM-A84M-01A-11D-A36O-08	48082896	90446605	12084787	27	56644											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	753	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		7577539	73617671	28	56645											
MYH4	4622	broad.mit.edu	37	chr17	10366488	10366488	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctttagctgaaaagtaactcGggacttctctagcagatctg	11	12	9	9	1	2	2	0	1	2	1	4	3	2	3	0	1	3	3	0	1	5	5			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:10366488G>A	ENST00000255381.2	-	10	933	c.823C>T	c.(823-825)Cga>Tga	p.R275*	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	275	Myosin head-like.				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						AAAGTAACTCGGGACTTCTCT	0.353													A	10366488	G	A	10366488	4	1	753	1	0	0	0	0	0	1	0	0	10113	1124	39	1	5120	1	MYH4	17	10366488	Nonsense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	2788949	10366488	70828722	29	56646											
KRT15	3866	broad.mit.edu	37	chr17	39673185	39673185	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gccgttgatgtcagcctcaaCgccctggcgcagggccagct	6	7	13	15	3	2	1	2	1	0	0	2	1	2	1	4	2	3	3	4	2	1	1	rs138271368		TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:39673185C>T	ENST00000254043.3	-	3	4198	c.613G>A	c.(613-615)Gtt>Att	p.V205I	KRT15_ENST00000393976.2_Missense_Mutation_p.V205I|KRT15_ENST00000393981.3_Missense_Mutation_p.V40I|KRT15_ENST00000393974.3_Missense_Mutation_p.V40I	NM_002275.3	NP_002266	P19012	K1C15_HUMAN	keratin 15	205	Coil 1B.|Rod.				epidermis development	intermediate filament	protein binding|structural constituent of cytoskeleton	p.V205I(3)		NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16		Breast(137;0.000286)				TCAGCCTCAACGCCCTGGCGC	0.612													T	39673185	C	T	39673185	3	4	753	1	0	0	0	0	1	0	0	0	8510	536	19	1	781	1	KRT15	17	39673185	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	29306697	39673185	41522025	30	56647											
ABCA8	10351	broad.mit.edu	37	chr17	66873682	66873682	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tgtgatggcaacctcagcatCccctttcctcagccctttca	7	12	6	16	0	3	1	3	1	0	0	5	1	5	1	5	1	3	2	5	1	1	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:66873682C>T	ENST00000269080.2	-	31	4194	c.4057G>A	c.(4057-4059)Gat>Aat	p.D1353N	ABCA8_ENST00000586539.1_Missense_Mutation_p.D1393N|ABCA8_ENST00000430352.2_Missense_Mutation_p.D1393N	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1353	ABC transporter 2.					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					ACCTCAGCATCCCCTTTCCTC	0.587													T	66873682	C	T	66873682	3	4	753	1	0	0	0	0	1	0	0	0	38	855	30	2	720	2	ABCA8	17	66873682	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	27200497	66873682	14321528	31	56648											
KIF19	124602	broad.mit.edu	37	chr17	72341014	72341014	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaccgtgcgccagcgcagcCgggtcaagaacatcttgcag	9	6	13	13	4	2	2	1	1	1	1	2	2	2	2	3	1	5	2	3	1	2	1	rs145463528	by1000genomes	TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr17:72341014C>T	ENST00000389916.4	+	7	835	c.697C>T	c.(697-699)Cgg>Tgg	p.R233W		NM_153209.3	NP_694941.2	Q2TAC6	KIF19_HUMAN	kinesin family member 19	233	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(6)|large_intestine(3)|lung(16)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	41						CCAGCGCAGCCGGGTCAAGAA	0.687													T	72341014	C	T	72341014	3	4	753	1	0	0	0	0	1	0	0	0	8340	643	23	1	723	1	KIF19	17	72341014	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08	5467332	72341014	8854196	32	56649											
MUC16	94025	broad.mit.edu	37	chr19	9049228	9049228	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttagttgtacttgtctttgcCgccaaactggtgaccattga	8	15	9	9	1	1	2	0	2	1	0	1	2	1	2	3	1	3	2	3	1	3	6			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:9049228C>T	ENST00000397910.4	-	5	32606	c.32403G>A	c.(32401-32403)gcG>gcA	p.A10801A		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10803	Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.A10801A(1)|p.A6434A(1)		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						TTGTCTTTGCCGCCAAACTGG	0.507													T	9049228	C	T	9049228	2	4	753	1	0	0	0	0	0	0	0	1	10049	639	23	1		1	MUC16	19	9049228	Silent	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		9049228	50079755	33	56650											
CIC	23152	broad.mit.edu	37	chr19	42791758	42791758	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatcttcagcaagcggcaccGggccctggtccaccagcgtc	7	6	12	16	3	2	0	1	0	1	0	4	1	3	0	4	3	3	2	4	3	1	1			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr19:42791758G>A	ENST00000572681.2	+	6	3439	c.3371G>A	c.(3370-3372)cGg>cAg	p.R1124Q	CIC_ENST00000575354.2_Missense_Mutation_p.R215Q|CIC_ENST00000160740.3_Missense_Mutation_p.R215Q			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215Q(2)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				AAGCGGCACCGGGCCCTGGTC	0.612			"Mis, F, S"		oligodendroglioma								A	42791758	G	A	42791758	3	1	753	1	0	0	0	0	1	0	0	0	3454	1116	39	1	662	1	CIC	19	42791758	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08	33742530	42791758	16337225	34	56651											
RSPH1	89765	broad.mit.edu	37	chr21	43896045	43896045	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggaactcctcctggtcataCtcccggctctcttcccggag	5	10	9	17	3	2	0	1	0	1	0	7	2	6	2	4	4	2	1	4	4	2	2			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chr21:43896045C>A	ENST00000291536.3	-	8	1007	c.840G>T	c.(838-840)gaG>gaT	p.E280D	RSPH1_ENST00000398352.3_Missense_Mutation_p.E242D	NM_080860.2	NP_543136.1	Q8WYR4	RSPH1_HUMAN	radial spoke head 1 homolog (Chlamydomonas)	280					meiosis	cytosol|nucleus				large_intestine(7)|lung(2)|ovary(1)|prostate(1)|stomach(1)	12						CCTGGTCATACTCCCGGCTCT	0.637													A	43896045	C	A	43896045	3	1	753	1	0	0	0	0	1	0	0	0	13793	564	20	4	97	4	RSPH1	21	43896045	Missense_Mutation	SNP	C	TCGA-TM-A84M-01A-11D-A36O-08		43896045	4233850	35	56652											
SMC1A	8243	broad.mit.edu	37	chrX	53440235	53440235	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agccgcaatatttttcttgcGatggtaattaaactgtgtgt	10	16	9	6	2	1	0	0	0	1	0	1	1	1	0	1	1	3	2	1	1	5	6			TCGA-TM-A84M-01A-11D-A36O-08	TCGA-TM-A84M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	36fec0f9-4fd0-418c-b67b-bad1d547aef8	73edccc5-3b03-401d-839a-c15d45c3bdaf	g.chrX:53440235G>A	ENST00000322213.4	-	4	689	c.562C>T	c.(562-564)Cgc>Tgc	p.R188C	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	188					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						TTTTTCTTGCGATGGTAATTA	0.493													A	53440235	G	A	53440235	3	1	753	1	0	0	0	0	1	0	0	0	14875	1058	37	1	3227	1	SMC1A	23	53440235	Missense_Mutation	SNP	G	TCGA-TM-A84M-01A-11D-A36O-08		53440235	101830325	36	56653											
SSU72	29101	broad.mit.edu	37	chr1	1509924	1509924	+	Frame_Shift_Del	DEL	G	G	-																															acaccaccgccacccgcagcGgggacgacggcatggcggcg																										TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:1509924delG	ENST00000359060.4	-	1	40	c.14delC	c.(13-15)ccgfs	p.P5fs	SSU72_ENST00000291386.3_Frame_Shift_Del_p.P5fs			Q9NP77	SSU72_HUMAN	SSU72 RNA polymerase II CTD phosphatase homolog (S. cerevisiae)	5					mRNA processing	cytoplasm|nucleus	phosphoprotein phosphatase activity			large_intestine(2)|lung(5)	7	all_cancers(77;0.00125)|all_epithelial(69;0.000703)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.03e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		Epithelial(90;5.04e-37)|OV - Ovarian serous cystadenocarcinoma(86;3.72e-23)|GBM - Glioblastoma multiforme(42;1.2e-07)|Colorectal(212;0.000188)|COAD - Colon adenocarcinoma(227;0.000214)|Kidney(185;0.00254)|STAD - Stomach adenocarcinoma(132;0.00645)|BRCA - Breast invasive adenocarcinoma(365;0.00837)|KIRC - Kidney renal clear cell carcinoma(229;0.037)|Lung(427;0.205)		CACCCGCAGCGGGGACGACGG	0.701													-	1509924	G	-	1509924	7	5	754	1	0	1	0	1	0	0	0	0	15298	1116	39	0	590	0	SSU72	1	1509924	Frame_Shift_Del	DEL	G	TCGA-TM-A84O-01A-11D-A36O-08		1509924	247740697	1	56654											
KDM1A	23028	broad.mit.edu	37	chr1	23356963	23356964	+	Splice_Site	INS	-	-	A																															ggtatgatctccatataggtINSagagtacagagagatggatg																										TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr1:23356963_23356964insA	ENST00000400181.4	+	2	457_458	c.353_354insA	c.(352-357)gtagag>gtAagag	p.E119fs	KDM1A_ENST00000356634.3_Splice_Site_p.E119fs|RP1-184J9.2_ENST00000427154.1_RNA|KDM1A_ENST00000542151.1_Splice_Site_p.E119fs	NM_001009999.2	NP_001009999.1	O60341	KDM1A_HUMAN	lysine (K)-specific demethylase 1A	119					blood coagulation|muscle cell development|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of protein binding|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nuclear chromatin	androgen receptor binding|chromatin binding|enzyme binding|flavin adenine dinucleotide binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-K9 specific)|ligand-dependent nuclear receptor transcription coactivator activity|MyoD binding|oxidoreductase activity|p53 binding|transcription regulatory region DNA binding			breast(2)|central_nervous_system(2)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23						TCCATATAGGTAGAGTACAGAG	0.386													A	23356964	-	A	23356963	8	5	754	1	0	1	1	0	0	0	1	0	8180	1652	57	0	359	0	KDM1A	1	23356963	Splice_Site	INS	-	TCGA-TM-A84O-01A-11D-A36O-08	21847039	23356963	225893658	2	56655											
VIT	5212	broad.mit.edu	37	chr2	37035867	37035867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttccgacacggacacgCgcatcggggccgtgcagtac	9	6	13	13	6	0	1	0	0	0	1	2	3	1	2	2	3	2	3	2	3	1	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:37035867C>T	ENST00000379242.3	+	15	1944	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	VIT_ENST00000379241.3_Missense_Mutation_p.R511C|VIT_ENST00000389975.3_Missense_Mutation_p.R533C|VIT_ENST00000497382.1_Missense_Mutation_p.R202C|VIT_ENST00000404084.1_Missense_Mutation_p.R485C|VIT_ENST00000401530.1_Missense_Mutation_p.R512C	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	533	VWFA 2.					proteinaceous extracellular matrix		p.R548S(1)		autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CACGGACACGCGCATCGGGGC	0.587													T	37035867	C	T	37035867	3	4	754	1	0	0	0	0	1	0	0	0	17273	768	27	1	1821	1	VIT	2	37035867	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		37035867	206163506	3	56656											
THUMPD2	80745	broad.mit.edu	37	chr2	39997066	39997066	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattctcttctatcttttgCatttgttctatttttaattt	6	26	2	7	0	4	0	0	0	4	0	5	0	4	0	0	0	1	2	0	0	4	13			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:39997066C>T	ENST00000505747.1	-	3	483	c.456G>A	c.(454-456)atG>atA	p.M152I	THUMPD2_ENST00000260619.6_Missense_Mutation_p.M122I|THUMPD2_ENST00000454352.2_Missense_Mutation_p.M122I|THUMPD2_ENST00000403537.3_5'UTR	NM_025264.4	NP_079540.2	Q9BTF0	THUM2_HUMAN	THUMP domain containing 2	152							methyltransferase activity			endometrium(2)|kidney(1)|large_intestine(3)|lung(10)|skin(1)	17		all_hematologic(82;0.248)				CTATCTTTTGCATTTGTTCTA	0.318													T	39997066	C	T	39997066	3	4	754	1	0	0	0	0	1	0	0	0	15983	710	25	2	1087	2	THUMPD2	2	39997066	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	2961199	39997066	203202307	4	56657											
GFPT1	2673	broad.mit.edu	37	chr2	69554140	69554140	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtccactgagtggggcaccTtgatcgttctttttgtgttc	5	16	11	9	1	1	2	0	2	1	0	4	2	2	2	2	2	0	3	2	2	0	5			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:69554140T>C	ENST00000357308.4	-	19	2139	c.1961A>G	c.(1960-1962)aAg>aGg	p.K654R	GFPT1_ENST00000361060.5_Missense_Mutation_p.K636R	NM_001244710.1	NP_001231639.1	Q06210	GFPT1_HUMAN	glutamine--fructose-6-phosphate transaminase 1	654	SIS 2.				dolichol-linked oligosaccharide biosynthetic process|energy reserve metabolic process|fructose 6-phosphate metabolic process|glutamine metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol	glutamine-fructose-6-phosphate transaminase (isomerizing) activity|sugar binding			endometrium(1)|large_intestine(3)|lung(5)|skin(3)	12						GTGGGGCACCTTGATCGTTCT	0.473													C	69554140	T	C	69554140	3	2	754	1	0	0	0	0	1	0	0	0	6401	1609	56	3	146	3	GFPT1	2	69554140	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08	29557074	69554140	173645233	5	56658											
INO80B	83444	broad.mit.edu	37	chr2	74682565	74682565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agttgagcctggcgggtgccCatggccatggagtgcacaag	8	7	16	10	1	0	1	0	1	0	0	0	2	0	2	3	4	3	2	3	4	1	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:74682565C>T	ENST00000233331.7	+	2	185	c.91C>T	c.(91-93)Cat>Tat	p.H31Y	INO80B_ENST00000469849.1_Intron|INO80B_ENST00000409917.1_Missense_Mutation_p.H31Y	NM_031288.3	NP_112578.2	Q9C086	IN80B_HUMAN	INO80 complex subunit B	31					DNA recombination|DNA repair|regulation of transcription, DNA-dependent|transcription, DNA-dependent	Ino80 complex|nucleolus	metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	13						GGCGGGTGCCCATGGCCATGG	0.567													T	74682565	C	T	74682565	3	4	754	1	0	0	0	0	1	0	0	0	7805	594	21	2	97	2	INO80B	2	74682565	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	5128425	74682565	168516808	6	56659											
EDAR	10913	broad.mit.edu	37	chr2	109526915	109526915	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtgctgggggcttccacataCctcttggtgggctttgctgg	3	13	15	10	0	1	0	0	0	1	0	2	0	2	0	2	5	3	4	2	5	1	4			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:109526915C>G	ENST00000409271.1	-	9	1343		c.e9+1		EDAR_ENST00000376651.1_Splice_Site|EDAR_ENST00000258443.2_Splice_Site			Q9UNE0	EDAR_HUMAN	ectodysplasin A receptor						apoptosis|cell differentiation	integral to membrane	protein binding|transmembrane receptor activity			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	16						CTTCCACATACCTCTTGGTGG	0.577													G	109526915	C	G	109526915	5	3	754	1	0	0	0	0	0	0	1	0	4944	521	18	4	558	4	EDAR	2	109526915	Splice_Site	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	34844350	109526915	133672458	7	56660											
B3GALT1	8708	broad.mit.edu	37	chr2	168725943	168725943	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttctcaatcagatggtggagCaagagagccaaatcttccat	13	10	9	9	0	3	2	2	0	2	2	5	4	4	3	2	2	2	1	2	2	3	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr2:168725943C>G	ENST00000392690.3	+	1	486	c.394C>G	c.(394-396)Caa>Gaa	p.Q132E	B3GALT1_ENST00000305861.1_Missense_Mutation_p.Q132E|AC016723.4_ENST00000430546.1_RNA|AC016723.4_ENST00000436982.2_RNA			Q9Y5Z6	B3GT1_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 1						lipid glycosylation|protein glycosylation	Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			cervix(1)|endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	18						GATGGTGGAGCAAGAGAGCCA	0.478													G	168725943	C	G	168725943	3	3	754	1	0	0	0	0	1	0	0	0	1252	711	25	4	396	4	B3GALT1	2	168725943	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	59199028	168725943	74473430	8	56661											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	754	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	40387169	209113112	34086261	9	56662											
ATP10D	57205	broad.mit.edu	37	chr4	47537946	47537946	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaccaaagcaatgctgaacaAcagtgggccacggtataagc	16	5	10	10	1	0	1	0	1	0	0	0	1	0	1	2	2	6	3	2	2	7	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:47537946A>G	ENST00000273859.3	+	7	1180	c.911A>G	c.(910-912)aAc>aGc	p.N304S	ATP10D_ENST00000504445.1_Missense_Mutation_p.N304S	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	304					ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	p.N304T(1)		NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						ATGCTGAACAACAGTGGGCCA	0.408													G	47537946	A	G	47537946	3	3	754	1	0	0	0	0	1	0	0	0	1123	43	2	3	933	3	ATP10D	4	47537946	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		47537946	143616330	10	56663											
TET2	54790	broad.mit.edu	37	chr4	106157155	106157155	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctagatttcattttcaacaaAgagcagattcccaaactgaa	16	11	5	9	0	2	4	2	1	0	3	3	4	3	4	1	0	3	1	1	0	5	5			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:106157155A>T	ENST00000513237.1	+	3	2916	c.2119A>T	c.(2119-2121)Aga>Tga	p.R707*	TET2_ENST00000545826.1_Nonsense_Mutation_p.R686*|TET2_ENST00000413648.2_Nonsense_Mutation_p.R686*|TET2_ENST00000540549.1_Nonsense_Mutation_p.R686*|TET2_ENST00000305737.2_Nonsense_Mutation_p.R686*|TET2_ENST00000394764.1_Nonsense_Mutation_p.R686*|TET2_ENST00000380013.4_Nonsense_Mutation_p.R686*			Q6N021	TET2_HUMAN	tet methylcytosine dioxygenase 2	686	Gln-rich.				cell cycle|myeloid cell differentiation		metal ion binding|methylcytosine dioxygenase activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	p.F683fs*17(1)|p.R686fs*7(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1272)|kidney(3)|large_intestine(11)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	1314		Myeloproliferative disorder(5;0.0393)		OV - Ovarian serous cystadenocarcinoma(123;7.18e-08)		TTTTCAACAAAGAGCAGATTC	0.423			"Mis N, F"		MDS								T	106157155	A	T	106157155	4	4	754	1	0	0	0	0	0	1	0	0	15870	64	3	5	2058	5	TET2	4	106157155	Nonsense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08	58619209	106157155	84997121	11	56664											
INPP4B	8821	broad.mit.edu	37	chr4	143326450	143326450	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtattcagtttacgatcaCggacaggagccacgagatcc	11	9	11	10	3	2	1	2	0	0	1	3	5	3	3	2	2	2	2	2	2	2	4			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr4:143326450C>T	ENST00000513000.1	-	7	597	c.164G>A	c.(163-165)cGt>cAt	p.R55H	INPP4B_ENST00000308502.4_Missense_Mutation_p.R55H|INPP4B_ENST00000506217.1_Missense_Mutation_p.R55H|INPP4B_ENST00000508116.1_Missense_Mutation_p.R55H|INPP4B_ENST00000262992.4_Missense_Mutation_p.R55H|INPP4B_ENST00000509777.1_Missense_Mutation_p.R55H	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	55	C2.				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTTACGATCACGGACAGGAGC	0.517													T	143326450	C	T	143326450	3	4	754	1	0	0	0	0	1	0	0	0	7811	536	19	1	2694	1	INPP4B	4	143326450	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	37169295	143326450	47827826	12	56665											
MAP3K5	4217	broad.mit.edu	37	chr6	136882674	136882674	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagacagttttctttacccgGcttatagtgtcttcatcagc	8	15	7	11	1	4	1	2	0	2	1	4	1	4	1	1	1	2	2	1	1	3	7			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr6:136882674G>A	ENST00000359015.4	-	28	4344	c.3984C>T	c.(3982-3984)agC>agT	p.S1328S	MAP3K5_ENST00000355845.4_Silent_p.S575S	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1328					activation of JUN kinase activity|activation of MAPKK activity|cellular response to hydrogen peroxide|induction of apoptosis by extracellular signals|interspecies interaction between organisms		ATP binding|caspase activator activity|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein phosphatase binding			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		TCTTTACCCGGCTTATAGTGT	0.433													A	136882674	G	A	136882674	2	1	754	1	0	0	0	0	0	0	0	1	9328	1194	42	2		2	MAP3K5	6	136882674	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		136882674	34232393	13	56666											
SPDYE1	285955	broad.mit.edu	37	chr7	44046924	44046924	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaacaaaacatcttccaCttcctgtatgggaagaaccg	14	9	6	12	1	1	1	0	0	1	1	4	2	4	2	4	1	3	1	4	1	6	3			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr7:44046924C>A	ENST00000258704.3	+	5	827	c.690C>A	c.(688-690)caC>caA	p.H230Q	RP5-1165K10.2_ENST00000454572.1_RNA|AC004951.6_ENST00000447643.1_lincRNA|POLR2J4_ENST00000427076.1_RNA	NM_001099435.2|NM_175064.2	NP_001092905.2|NP_778234.2	Q8NFV5	SPDE1_HUMAN	speedy/RINGO cell cycle regulator family member E1	230										endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)	11						ACATCTTCCACTTCCTGTATG	0.557													A	44046924	C	A	44046924	3	1	754	1	0	0	0	0	1	0	0	0	15125	564	20	4	708	4	SPDYE1	7	44046924	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		44046924	115091739	14	56667											
OSR2	116039	broad.mit.edu	37	chr8	99961351	99961351	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	atgaaccactggacgctgggGtatcccaatgtgcacgagat	11	8	12	10	2	0	2	0	1	0	1	1	4	1	3	2	3	2	3	2	3	3	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr8:99961351G>A	ENST00000297565.4	+	2	667	c.171G>A	c.(169-171)ggG>ggA	p.G57G	OSR2_ENST00000457907.2_Silent_p.G178G|OSR2_ENST00000522510.1_Silent_p.G57G|OSR2_ENST00000523368.1_Silent_p.G57G|OSR2_ENST00000435298.2_Silent_p.G57G	NM_001142462.1	NP_001135934.1	Q8N2R0	OSR2_HUMAN	odd-skipped related transciption factor 2	57					bone morphogenesis|chondrocyte differentiation|embryonic digit morphogenesis|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic leg joint morphogenesis|embryonic skeletal joint morphogenesis|eyelid development in camera-type eye|head development|mesonephros development|metanephros development|middle ear morphogenesis|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|osteoblast proliferation|palate development|positive regulation of bone mineralization|positive regulation of epithelial cell proliferation|positive regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Breast(36;4.14e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.0136)			GGACGCTGGGGTATCCCAATG	0.657													A	99961351	G	A	99961351	2	1	754	1	0	0	0	0	0	0	0	1	11370	1248	44	2		2	OSR2	8	99961351	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		99961351	46402671	15	56668											
DLG5	9231	broad.mit.edu	37	chr10	79581312	79581312	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctgggggcgtttgaaagtgTtagggtcaaagatggacttt	9	13	15	4	1	2	2	1	1	1	1	2	3	2	3	0	4	0	2	0	4	3	3			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr10:79581312T>C	ENST00000372391.2	-	15	2935	c.2930A>G	c.(2929-2931)aAc>aGc	p.N977S	DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)	977					cell-cell adhesion|intracellular signal transduction|negative regulation of cell proliferation|regulation of apoptosis	cell junction|cytoplasm	beta-catenin binding|cytoskeletal protein binding|receptor signaling complex scaffold activity			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			TTTGAAAGTGTTAGGGTCAAA	0.577													C	79581312	T	C	79581312	3	2	754	1	0	0	0	0	1	0	0	0	4597	1725	60	3	2901	3	DLG5	10	79581312	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08		79581312	55953435	16	56669											
OR4C13	283092	broad.mit.edu	37	chr11	49974112	49974112	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgtgctcattgtggtcacCatcactgccagcccatcact	9	11	7	14	0	4	0	4	0	0	0	4	0	4	0	3	1	3	1	3	1	1	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:49974112C>T	ENST00000555099.1	+	1	170	c.138C>T	c.(136-138)acC>acT	p.T46T		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	46					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TTGTGGTCACCATCACTGCCA	0.438													T	49974112	C	T	49974112	2	4	754	1	0	0	0	0	0	0	0	1	11123	581	21	2		2	OR4C13	11	49974112	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		49974112	85032404	17	56670											
OR1S2	219958	broad.mit.edu	37	chr11	57971059	57971059	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtatctgaacaggacagttTgagcagaggggccaagtcac	12	8	13	8	0	2	3	1	2	1	1	2	4	2	4	1	3	2	3	1	3	3	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:57971059T>C	ENST00000302592.6	-	1	594	c.595A>G	c.(595-597)Aaa>Gaa	p.K199E		NM_001004459.1	NP_001004459.1	Q8NGQ3	OR1S2_HUMAN	olfactory receptor, family 1, subfamily S, member 2	199					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(11)|kidney(1)|large_intestine(4)|lung(23)|ovary(2)|skin(2)|stomach(2)|urinary_tract(1)	46		Breast(21;0.0589)				CAGGACAGTTTGAGCAGAGGG	0.413													C	57971059	T	C	57971059	3	2	754	1	0	0	0	0	1	0	0	0	11049	1821	63	3	385	3	OR1S2	11	57971059	Missense_Mutation	SNP	T	TCGA-TM-A84O-01A-11D-A36O-08	7996947	57971059	77035457	18	56671											
FAM111A	63901	broad.mit.edu	37	chr11	58919526	58919526	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaggccaagaaatgcttgtgCgtggcacagaaggaatcaaa	16	6	12	7	1	1	2	1	0	0	2	1	3	1	3	1	3	2	2	1	3	6	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr11:58919526C>T	ENST00000528737.1	+	5	3203	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C	FAM111A_ENST00000531147.1_Missense_Mutation_p.R129C|FAM111A_ENST00000361723.3_Missense_Mutation_p.R129C|FAM111A_ENST00000533703.1_Missense_Mutation_p.R129C|FAM111A_ENST00000420244.1_Missense_Mutation_p.R129C			Q96PZ2	F111A_HUMAN	family with sequence similarity 111, member A	129					proteolysis		serine-type endopeptidase activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_epithelial(135;0.139)				AATGCTTGTGCGTGGCACAGA	0.443													T	58919526	C	T	58919526	3	4	754	1	0	0	0	0	1	0	0	0	5444	768	27	1	391	1	FAM111A	11	58919526	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	948467	58919526	76086990	19	56672											
MSRB3	253827	broad.mit.edu	37	chr12	65847524	65847524	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaggttggccttcattccaCgatgtgatcaattctgaggc	8	12	10	11	1	3	2	2	2	1	0	4	3	4	2	3	3	0	1	3	3	1	4	rs140600679		TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:65847524C>T	ENST00000308259.5	+	6	583	c.309C>T	c.(307-309)caC>caT	p.H103H	MSRB3_ENST00000355192.3_Silent_p.H110H|MSRB3_ENST00000540804.1_Silent_p.H110H|MSRB3_ENST00000535664.1_Silent_p.H103H	NM_001031679.2|NM_001193460.1	NP_001026849.1|NP_001180389.1	Q8IXL7	MSRB3_HUMAN	methionine sulfoxide reductase B3	110					protein repair	endoplasmic reticulum|mitochondrion	peptide-methionine-(S)-S-oxide reductase activity|protein-methionine-R-oxide reductase activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|prostate(1)|skin(1)	13			LUAD - Lung adenocarcinoma(6;0.0234)|LUSC - Lung squamous cell carcinoma(43;0.0975)	GBM - Glioblastoma multiforme(28;0.131)		CTTCATTCCACGATGTGATCA	0.448													T	65847524	C	T	65847524	2	4	754	1	0	0	0	0	0	0	0	1	9965	535	19	1		1	MSRB3	12	65847524	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		65847524	68004371	20	56673											
VEZT	55591	broad.mit.edu	37	chr12	95694120	95694120	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tatgtgaaaactctctagaaGgtaaaaataaagataattct	19	12	6	4	0	2	3	0	1	2	2	3	3	2	3	0	1	1	1	0	1	11	6			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr12:95694120G>A	ENST00000436874.1	+	12	2116	c.2011G>A	c.(2011-2013)Ggt>Agt	p.G671S	VEZT_ENST00000261219.6_Missense_Mutation_p.G623S|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	671						acrosomal vesicle|adherens junction|integral to membrane|nucleus				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTCTCTAGAAGGTAAAAATAA	0.353													A	95694120	G	A	95694120	3	1	754	1	0	0	0	0	1	0	0	0	17258	1000	35	2	2057	2	VEZT	12	95694120	Missense_Mutation	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	29846596	95694120	38157775	21	56674											
C14orf105	55195	broad.mit.edu	37	chr14	57960220	57960220	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tttatgtttacctgtagaatAtcttccataccagttttctt	9	20	4	8	0	2	1	0	0	2	1	3	1	3	1	3	0	2	3	3	0	6	11			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr14:57960220A>G	ENST00000216445.3	-	1	350	c.214T>C	c.(214-216)Tat>Cat	p.Y72H	C14orf105_ENST00000534126.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000526336.1_Missense_Mutation_p.Y72H|C14orf105_ENST00000422976.2_Missense_Mutation_p.Y72H	NM_001283057.1|NM_018168.2	NP_001269986.1|NP_060638.2	Q9NVL8	CN105_HUMAN	chromosome 14 open reading frame 105	72										breast(1)|cervix(1)|endometrium(1)|large_intestine(3)|lung(3)|prostate(1)|skin(1)	11						CCTGTAGAATATCTTCCATAC	0.408													G	57960220	A	G	57960220	3	3	754	1	0	0	0	0	1	0	0	0	1750	449	16	3	700	3	C14orf105	14	57960220	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		57960220	49389320	22	56675											
MGA	23269	broad.mit.edu	37	chr15	42058595	42058595	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagagagtgaagtcaaaggAttcttcatttcataaattaa	16	12	9	4	0	4	2	3	1	1	1	4	5	4	4	0	2	0	0	0	2	5	5			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:42058595A>C	ENST00000219905.7	+	24	8496	c.8315A>C	c.(8314-8316)gAt>gCt	p.D2772A	MGA_ENST00000570161.1_Missense_Mutation_p.D2772A|MGA_ENST00000566586.1_Missense_Mutation_p.D2563A|MGA_ENST00000545763.1_Missense_Mutation_p.D2563A|MGA_ENST00000389936.4_Missense_Mutation_p.D2733A	NM_001164273.1	NP_001157745.1	Q8IWI9	MGAP_HUMAN	MGA, MAX dimerization protein	2733						MLL1 complex	DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|breast(4)|central_nervous_system(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(33)|ovary(8)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_cancers(109;0.00356)|all_epithelial(112;0.0413)|all_lung(180;0.18)|Ovarian(310;0.238)		OV - Ovarian serous cystadenocarcinoma(18;1.41e-18)|GBM - Glioblastoma multiforme(113;2.15e-06)|COAD - Colon adenocarcinoma(120;0.031)|Lung(196;0.0721)|BRCA - Breast invasive adenocarcinoma(123;0.0964)|Colorectal(105;0.0998)|LUSC - Lung squamous cell carcinoma(244;0.235)		AAGTCAAAGGATTCTTCATTT	0.378													C	42058595	A	C	42058595	3	2	754	1	0	0	0	0	1	0	0	0	9615	333	12	5	8405	5	MGA	15	42058595	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08		42058595	60472797	23	56676											
MYO5A	4644	broad.mit.edu	37	chr15	52668651	52668651	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cggatggtcttctggatccgGatgcaggcagctctcagttt	6	12	13	10	2	3	0	1	0	3	0	5	3	4	3	1	5	2	4	1	5	0	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr15:52668651G>A	ENST00000399231.3	-	19	2556	c.2313C>T	c.(2311-2313)atC>atT	p.I771I	MYO5A_ENST00000399233.2_Silent_p.I771I|MYO5A_ENST00000356338.6_Silent_p.I771I|MYO5A_ENST00000358212.6_Silent_p.I771I|MYO5A_ENST00000553916.1_Silent_p.I771I	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	771	IQ 1.				actin filament-based movement|transport	cytoplasm|growth cone|myosin complex|ruffle	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		TCTGGATCCGGATGCAGGCAG	0.517													A	52668651	G	A	52668651	2	1	754	1	0	0	0	0	0	0	0	1	10154	1164	41	2		2	MYO5A	15	52668651	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	10610056	52668651	49862741	24	56677											
MYO15A	51168	broad.mit.edu	37	chr17	18025715	18025715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcggcccgccaagctggCggaacaaggtatggaggcac	10	4	16	11	3	0	0	0	0	0	0	1	2	0	2	2	7	2	3	2	7	4	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:18025715C>T	ENST00000205890.5	+	2	3939	c.3601C>T	c.(3601-3603)Cgg>Tgg	p.R1201W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1201	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					GCCAAGCTGGCGGAACAAGGT	0.632													T	18025715	C	T	18025715	3	4	754	1	0	0	0	0	1	0	0	0	10139	759	27	1	3603	1	MYO15A	17	18025715	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		18025715	63169495	25	56678											
ZNF652	22834	broad.mit.edu	37	chr17	47394244	47394244	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctcactttccaggaCaaacttcttgccacatttat	11	12	6	12	0	2	0	1	0	1	0	3	2	3	2	2	2	3	1	2	2	2	5			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr17:47394244C>T	ENST00000362063.2	-	2	1162	c.844G>A	c.(844-846)Gtc>Atc	p.V282I	ZNF652_ENST00000430262.2_Missense_Mutation_p.V282I	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	282					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			CTTTCCAGGACAAACTTCTTG	0.453													T	47394244	C	T	47394244	3	4	754	1	0	0	0	0	1	0	0	0	18166	478	17	2	996	2	ZNF652	17	47394244	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08	29368529	47394244	33800966	26	56679											
CIC	23152	broad.mit.edu	37	chr19	42798120	42798121	+	Frame_Shift_Ins	INS	-	-	T																															aagtggacttcgaagagcgcINStttgctgagttgcctgagtt																										TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:42798120_42798121insT	ENST00000572681.2	+	18	6860_6861	c.6792_6793insT	c.(6793-6795)tttfs	p.F2265fs	CIC_ENST00000160740.3_Frame_Shift_Ins_p.F1357fs|CIC_ENST00000575354.2_Frame_Shift_Ins_p.F1359fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	1359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TCGAAGAGCGCTTTGCTGAGTT	0.663			"Mis, F, S"		oligodendroglioma								T	42798121	-	T	42798120	7	5	754	1	0	1	1	0	0	0	0	0	3454	784	28	0	4140	0	CIC	19	42798120	Frame_Shift_Ins	INS	-	TCGA-TM-A84O-01A-11D-A36O-08		42798120	16330863	27	56680											
ZNF350	59348	broad.mit.edu	37	chr19	52468457	52468457	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tattctcttatgcttaaccaGacacgacatatacgcaaacg	14	11	5	11	3	1	1	0	0	1	1	2	2	1	1	1	0	4	2	1	0	6	6			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr19:52468457G>A	ENST00000243644.4	-	5	1476	c.1249C>T	c.(1249-1251)Ctg>Ttg	p.L417L	HCCAT3_ENST00000595010.1_RNA|HCCAT3_ENST00000600253.1_RNA	NM_021632.3	NP_067645.3	Q9GZX5	ZN350_HUMAN	zinc finger protein 350	417					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear matrix|transcriptional repressor complex	DNA binding|protein binding|zinc ion binding			breast(4)|endometrium(3)|kidney(3)|large_intestine(7)|lung(5)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0179)		TGCTTAACCAGACACGACATA	0.468													A	52468457	G	A	52468457	2	1	754	1	0	0	0	0	0	0	0	1	17964	933	33	2		2	ZNF350	19	52468457	Silent	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08	9670337	52468457	6660526	28	56681											
ASXL1	171023	broad.mit.edu	37	chr20	31022401	31022402	+	Frame_Shift_Del	DEL	GT	GT	-																															gcaggtccgaggggcgagagGtcaccactgccatagagagg																										TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:31022401_31022402delGT	ENST00000375687.4	+	13	2310_2311	c.1886_1887delGT	c.(1885-1887)ggtfs	p.G629fs	ASXL1_ENST00000306058.5_Frame_Shift_Del_p.G624fs	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like 1 (Drosophila)	629					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	PR-DUB complex	metal ion binding|protein binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						GGGGCGAGAGGTCACCACTGCC	0.698			"F, N, Mis"		"MDS, CMML"								-	31022402	GT	-	31022401	7	5	754	1	0	1	0	1	0	0	0	0	1071	1261	44	0	1942	0	ASXL1	20	31022401	Frame_Shift_Del	DEL	GT	TCGA-TM-A84O-01A-11D-A36O-08		31022401	32003119	29	56682											
STX16	8675	broad.mit.edu	37	chr20	57251288	57251288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaagatgcttgtgattttaAtattatttgtcatcatcatt	11	19	7	4	0	3	2	3	1	0	1	3	3	3	3	0	1	1	1	0	1	4	7			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr20:57251288A>G	ENST00000371141.4	+	9	1643	c.919A>G	c.(919-921)Ata>Gta	p.I307V	STX16_ENST00000361830.3_Missense_Mutation_p.I307V|STX16_ENST00000359617.4_Missense_Mutation_p.I254V|STX16_ENST00000371132.4_Missense_Mutation_p.I286V|STX16_ENST00000361770.5_Missense_Mutation_p.I290V|STX16_ENST00000355957.5_Missense_Mutation_p.I290V|STX16_ENST00000358029.4_Missense_Mutation_p.I303V|STX16-NPEPL1_ENST00000530122.1_Intron	NM_001001433.2	NP_001001433.1	O14662	STX16_HUMAN	syntaxin 16	307					intra-Golgi vesicle-mediated transport|intracellular protein transport|retrograde transport, endosome to Golgi	Golgi membrane|integral to membrane|microsome|SNARE complex	SNAP receptor activity			breast(1)|cervix(1)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|urinary_tract(1)	17	all_lung(29;0.0175)		BRCA - Breast invasive adenocarcinoma(13;3.73e-09)|Epithelial(14;8.54e-06)|all cancers(14;6.89e-05)			TGTGATTTTAATATTATTTGT	0.433													G	57251288	A	G	57251288	3	3	754	1	0	0	0	0	1	0	0	0	15435	101	4	3	953	3	STX16	20	57251288	Missense_Mutation	SNP	A	TCGA-TM-A84O-01A-11D-A36O-08	26228887	57251288	5774232	30	56683											
RIPK4	54101	broad.mit.edu	37	chr21	43161344	43161344	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ccaggtgcagagcggtgtagCcgtctgaggtcatggcctcc	6	8	15	12	2	2	2	1	1	1	1	3	2	3	2	4	4	3	2	4	4	1	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr21:43161344C>T	ENST00000352483.2	-	9	2217	c.2153G>A	c.(2152-2154)gGc>gAc	p.G718D	AP001615.9_ENST00000423276.1_RNA|RIPK4_ENST00000544709.1_Missense_Mutation_p.G607D|RIPK4_ENST00000332512.3_Missense_Mutation_p.G670D|RIPK4_ENST00000542057.1_Missense_Mutation_p.G607D			Q96T11	Q96T11_HUMAN	receptor-interacting serine-threonine kinase 4	670						cytoplasm|nucleus	ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						AGCGGTGTAGCCGTCTGAGGT	0.682													T	43161344	C	T	43161344	3	4	754	1	0	0	0	0	1	0	0	0	13474	739	26	2	349	2	RIPK4	21	43161344	Missense_Mutation	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		43161344	4968551	31	56684											
CCT8L2	150160	broad.mit.edu	37	chr22	17073351	17073351	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctgctcagcaggtggggCtcctcctcttctggactcct	5	11	11	14	0	3	0	1	0	2	0	6	1	6	1	3	4	3	4	3	4	1	1			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chr22:17073351C>T	ENST00000359963.3	-	1	349	c.90G>A	c.(88-90)gaG>gaA	p.E30E		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	30					cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				GCAGGTGGGGCTCCTCCTCTT	0.657													T	17073351	C	T	17073351	2	4	754	1	0	0	0	0	0	0	0	1	2991	796	28	2		2	CCT8L2	22	17073351	Silent	SNP	C	TCGA-TM-A84O-01A-11D-A36O-08		17073351	34231215	32	56685											
FAM47B	170062	broad.mit.edu	37	chrX	34962775	34962775	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcctggcgtcattgaaaaGctgtttgccaagaagggatg	11	10	13	7	1	1	2	1	1	0	1	1	3	1	3	2	2	3	2	2	2	4	2			TCGA-TM-A84O-01A-11D-A36O-08	TCGA-TM-A84O-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	043d7b5e-441a-41a1-a59a-4057e486b5e1	b593c768-61c5-483e-a22d-94af00406293	g.chrX:34962775G>C	ENST00000329357.5	+	1	1863	c.1827G>C	c.(1825-1827)aaG>aaC	p.K609N		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	609										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						TCATTGAAAAGCTGTTTGCCA	0.438													C	34962775	G	C	34962775	3	2	754	1	0	0	0	0	1	0	0	0	5621	962	34	4	1829	4	FAM47B	23	34962775	Missense_Mutation	SNP	G	TCGA-TM-A84O-01A-11D-A36O-08		34962775	120307785	33	56686											
AMPD1	270	broad.mit.edu	37	chr1	115231190	115231190	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacaccacttacctcctggcTtctgtggaggtggacagagt	8	11	11	11	0	1	1	0	0	1	1	2	3	2	3	3	4	2	1	3	4	2	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115231190T>G	ENST00000369538.3	-	2	341	c.294A>C	c.(292-294)gaA>gaC	p.E98D	AMPD1_ENST00000520113.2_Missense_Mutation_p.E102D|AMPD1_ENST00000353928.6_Missense_Mutation_p.E69D	NM_001172626.1	NP_001166097.1	P23109	AMPD1_HUMAN	adenosine monophosphate deaminase 1	69					purine base metabolic process|purine ribonucleoside monophosphate biosynthetic process|purine-containing compound salvage	cytosol	AMP deaminase activity|metal ion binding			NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(17)|ovary(3)|pancreas(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	45	all_epithelial(7;7.83e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	Adenosine monophosphate(DB00131)	ACCTCCTGGCTTCTGTGGAGG	0.463													G	115231190	T	G	115231190	3	3	755	1	0	0	0	0	1	0	0	0	585	1606	56	5	2092	5	AMPD1	1	115231190	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		115231190	134019431	1	56687											
CSDE1	7812	broad.mit.edu	37	chr1	115282476	115282476	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccattagggtacccattatgTccattgttgtggagaaggtt	9	14	11	7	0	0	1	0	0	0	1	1	2	1	1	3	3	1	3	3	3	4	6			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:115282476T>C	ENST00000438362.2	-	3	552	c.174A>G	c.(172-174)ggA>ggG	p.G58G	CSDE1_ENST00000358528.4_Silent_p.G12G|CSDE1_ENST00000369530.1_Silent_p.G58G|CSDE1_ENST00000530886.1_Intron|CSDE1_ENST00000261443.5_Silent_p.G12G|CSDE1_ENST00000339438.6_Silent_p.G12G|CSDE1_ENST00000534699.1_Silent_p.G12G	NM_001242891.1	NP_001229820.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	12	CSD 1.				male gonad development|regulation of transcription, DNA-dependent	cytoplasm	DNA binding|protein binding|RNA binding			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACCCATTATGTCCATTGTTGT	0.368													C	115282476	T	C	115282476	2	2	755	1	0	0	0	0	0	0	0	1	3962	1654	58	3		3	CSDE1	1	115282476	Silent	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08	51286	115282476	133968145	2	56688											
HSD3B1	3283	broad.mit.edu	37	chr1	120056459	120056459	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgctcttcatggacaggtAcccagctcctgttagaggcc	8	11	10	12	0	2	1	1	0	1	1	3	2	3	2	3	3	3	4	3	3	3	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:120056459A>G	ENST00000235547.6	+	4	458	c.319A>G	c.(319-321)Acc>Gcc	p.T107A	HSD3B1_ENST00000528909.1_Missense_Mutation_p.T105A|HSD3B1_ENST00000369413.3_Missense_Mutation_p.T105A	NM_000862.2	NP_000853.1	P14060	3BHS1_HUMAN	hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1	105					androgen biosynthetic process|estrogen biosynthetic process|glucocorticoid biosynthetic process|mineralocorticoid biosynthetic process	integral to membrane|microsome|mitochondrial inner membrane|mitochondrial intermembrane space|smooth endoplasmic reticulum membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|steroid delta-isomerase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(18)|ovary(2)|prostate(1)|skin(1)	32	all_neural(166;0.219)	all_lung(203;3.16e-06)|Lung NSC(69;2.19e-05)|all_epithelial(167;0.000624)		Lung(183;0.0106)|LUSC - Lung squamous cell carcinoma(189;0.0554)	NADH(DB00157)|Trilostane(DB01108)	ATGGACAGGTACCCAGCTCCT	0.507													G	120056459	A	G	120056459	3	3	755	1	0	0	0	0	1	0	0	0	7445	391	14	3	323	3	HSD3B1	1	120056459	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08	4773983	120056459	129194162	3	56689											
PGLYRP4	57115	broad.mit.edu	37	chr1	153317725	153317725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctctggctgcagactgtctgGtcgtgacactccagtccagg	6	10	12	13	1	2	2	0	1	2	1	5	2	4	2	2	3	1	2	2	3	0	0			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:153317725G>T	ENST00000368739.3	-	4	619	c.261C>A	c.(259-261)gaC>gaA	p.D87E	PGLYRP4_ENST00000359650.5_Missense_Mutation_p.D91E|PGLYRP4_ENST00000490266.1_5'UTR			Q96LB8	PGRP4_HUMAN	peptidoglycan recognition protein 4	91					defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding			breast(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	23	all_lung(78;2.81e-33)|Lung NSC(65;9.54e-32)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACTGTCTGGTCGTGACACT	0.562													T	153317725	G	T	153317725	3	4	755	1	0	0	0	0	1	0	0	0	11873	1252	44	4	872	4	PGLYRP4	1	153317725	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	33261266	153317725	95932896	4	56690											
HMCN1	83872	broad.mit.edu	37	chr1	186057402	186057402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	catggttaaagaaccacaagCgcataggtaaggcaaccatg	16	6	10	9	1	0	1	0	0	0	1	0	1	0	1	2	3	3	4	2	3	7	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:186057402C>T	ENST00000271588.4	+	62	9800	c.9571C>T	c.(9571-9573)Cgc>Tgc	p.R3191C	HMCN1_ENST00000367492.2_Missense_Mutation_p.R3191C	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3191	Ig-like C2-type 30.				response to stimulus|visual perception	basement membrane	calcium ion binding			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GAACCACAAGCGCATAGGTAA	0.418													T	186057402	C	T	186057402	3	4	755	1	0	0	0	0	1	0	0	0	7275	768	27	1	9817	1	HMCN1	1	186057402	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	32739677	186057402	63193219	5	56691											
KDM5B	10765	broad.mit.edu	37	chr1	202727567	202727567	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaacgcatctgccatttcCccaaaagtacggagggtata	12	10	9	10	2	1	1	0	1	1	0	2	2	2	2	3	2	3	3	3	2	6	5			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:202727567C>A	ENST00000367265.3	-	9	2313	c.1149G>T	c.(1147-1149)ggG>ggT	p.G383G	KDM5B_ENST00000367264.2_Silent_p.G419G|KDM5B_ENST00000456180.1_5'UTR	NM_006618.3	NP_006609.3	Q9UGL1	KDM5B_HUMAN	lysine (K)-specific demethylase 5B	383					negative regulation of transcription, DNA-dependent	nucleolus	DNA binding|histone demethylase activity (H3-dimethyl-K4 specific)|histone demethylase activity (H3-trimethyl-K4 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			breast(2)|ovary(2)|skin(1)|urinary_tract(1)	6						CTGCCATTTCCCCAAAAGTAC	0.378													A	202727567	C	A	202727567	2	1	755	1	0	0	0	0	0	0	0	1	8192	610	22	4		4	KDM5B	1	202727567	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	16670165	202727567	46523054	6	56692											
C4BPA	722	broad.mit.edu	37	chr1	207288791	207288791	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagacacccaggagagttacGtaatgggcaagtagagatta	15	7	12	7	1	0	3	0	0	0	3	0	5	0	3	1	2	1	4	1	2	5	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:207288791G>A	ENST00000367070.3	+	4	553	c.359G>A	c.(358-360)cGt>cAt	p.R120H		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	120	Sushi 2.				complement activation, classical pathway|innate immune response	extracellular region	protein binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						GGAGAGTTACGTAATGGGCAA	0.363													A	207288791	G	A	207288791	3	1	755	1	0	0	0	0	1	0	0	0	2271	1145	40	1	369	1	C4BPA	1	207288791	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	4561224	207288791	41961830	7	56693											
HHIPL2	79802	broad.mit.edu	37	chr1	222715496	222715496	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttcttcaatctccaagatgaCcctggaagagaaaaaagaaa	18	8	7	8	0	3	4	1	1	2	3	4	6	3	5	2	1	0	0	2	1	7	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr1:222715496C>G	ENST00000343410.6	-	3	1034	c.976G>C	c.(976-978)Gtc>Ctc	p.V326L		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	326					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		TCCAAGATGACCCTGGAAGAG	0.473													G	222715496	C	G	222715496	5	3	755	1	0	0	0	0	0	0	1	0	7149	521	18	4	1226	4	HHIPL2	1	222715496	Splice_Site	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	15426705	222715496	26535125	8	56694											
GEN1	348654	broad.mit.edu	37	chr2	17954555	17954557	+	In_Frame_Del	DEL	TTA	TTA	-																															ggtaccaaagacctgatttgTtattgtttcaggtatctgaa																										TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:17954555_17954557delTTA	ENST00000381254.2	+	10	1274_1276	c.1060_1062delTTA	c.(1060-1062)ttadel	p.L355del	GEN1_ENST00000317402.7_In_Frame_Del_p.L355del|SMC6_ENST00000402989.1_Intron	NM_001130009.1	NP_001123481.1	Q17RS7	GEN_HUMAN	GEN1 Holliday junction 5' flap endonuclease	355					DNA repair	nucleus	DNA binding|endonuclease activity|metal ion binding			breast(6)|central_nervous_system(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					ACCTGATTTGTTATTGTTTCAGG	0.32								Homologous recombination					-	17954557	TTA	-	17954555	7	5	755	1	0	1	0	1	0	0	0	0	6391	1722	60	0	1094	0	GEN1	2	17954555	In_Frame_Del	DEL	TTA	TCGA-TM-A84Q-01A-11D-A36O-08		17954555	225244818	9	56695											
FAP	2191	broad.mit.edu	37	chr2	163030247	163030247	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	acttaccttatagtgctcaaGattatcatcctttgttggga	10	16	7	8	0	2	1	2	0	0	1	3	2	3	2	2	1	2	2	2	1	5	6			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:163030247G>C	ENST00000188790.4	-	23	2227	c.2020C>G	c.(2020-2022)Ctt>Gtt	p.L674V	FAP_ENST00000443424.1_Missense_Mutation_p.L649V	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN	fibroblast activation protein, alpha	674					endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						TAGTGCTCAAGATTATCATCC	0.299													C	163030247	G	C	163030247	3	2	755	1	0	0	0	0	1	0	0	0	5722	942	33	4	278	4	FAP	2	163030247	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	145075692	163030247	80169126	10	56696											
TTC30B	150737	broad.mit.edu	37	chr2	178417043	178417043	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggccatcggtctcattctcgCccccactttcctctccccct	3	12	5	21	2	3	0	1	0	3	0	8	0	4	0	6	2	0	0	6	2	0	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:178417043C>A	ENST00000408939.3	-	1	699	c.449G>T	c.(448-450)gGc>gTc	p.G150V		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			CTCATTCTCGCCCCCACTTTC	0.587													A	178417043	C	A	178417043	3	1	755	1	0	0	0	0	1	0	0	0	16801	739	26	4	1552	4	TTC30B	2	178417043	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	15386796	178417043	64782330	11	56697											
TTN	7273	broad.mit.edu	37	chr2	179440628	179440628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatggtcatgacaaatttacCggtatcatatctgttacatt	13	15	6	7	1	3	1	2	1	1	0	3	1	3	1	1	2	2	2	1	2	6	6			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr2:179440628C>T	ENST00000589042.1	-	326	70455	c.70231G>A	c.(70231-70233)Ggt>Agt	p.G23411S	TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G21770S|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G20843S|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.G14538S|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.G14346S|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.G14471S	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	21770	Fibronectin type-III 70.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACAAATTTACCGGTATCATAT	0.448													T	179440628	C	T	179440628	3	4	755	1	0	0	0	0	1	0	0	0	16837	652	23	1	37896	1	TTN	2	179440628	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	1023585	179440628	63758745	12	56698											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	755	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	29672484	209113112	34086261	13	56699											
FLNB	2317	broad.mit.edu	37	chr3	58139287	58139287	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagccccttccagttcaccGtggggccacttggtgaagga	7	8	13	13	1	1	1	1	1	0	0	2	2	2	2	5	4	1	2	5	4	1	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr3:58139287G>A	ENST00000295956.4	+	39	6718	c.6553G>A	c.(6553-6555)Gtg>Atg	p.V2185M	FLNB_ENST00000348383.5_Missense_Mutation_p.V2144M|FLNB_ENST00000490882.1_Missense_Mutation_p.V2216M|FLNB_ENST00000429972.2_Missense_Mutation_p.V2174M|FLNB_ENST00000493452.1_Missense_Mutation_p.V1992M|FLNB_ENST00000419752.2_Missense_Mutation_p.V2005M|FLNB_ENST00000358537.3_Missense_Mutation_p.V2161M|FLNB_ENST00000357272.4_3'UTR	NM_001457.3	NP_001448.2	O75369	FLNB_HUMAN	filamin B, beta	2185	Interaction with FLNA 1.|Interaction with INPPL1.				actin cytoskeleton organization|cell differentiation|cytoskeletal anchoring at plasma membrane|signal transduction	cell cortex|integral to membrane|nucleus|sarcomere	actin binding			NS(1)|breast(13)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(23)|liver(2)|lung(38)|ovary(6)|prostate(3)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(5)	120				BRCA - Breast invasive adenocarcinoma(55;0.000335)|KIRC - Kidney renal clear cell carcinoma(284;0.0726)|Kidney(284;0.0898)		CCAGTTCACCGTGGGGCCACT	0.667													A	58139287	G	A	58139287	3	1	755	1	0	0	0	0	1	0	0	0	5983	1145	40	1	6804	1	FLNB	3	58139287	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		58139287	139883143	14	56700											
TDO2	6999	broad.mit.edu	37	chr4	156828909	156828909	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaagcaaatcctctgggagTtggattctgttcgagagatc	10	13	11	7	1	2	1	0	0	2	1	5	5	3	3	1	2	1	3	1	2	2	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr4:156828909T>A	ENST00000536354.2	+	4	332	c.268T>A	c.(268-270)Ttg>Atg	p.L90M		NM_005651.3	NP_005642.1	P48775	T23O_HUMAN	tryptophan 2,3-dioxygenase	90					tryptophan catabolic process to kynurenine	cytosol	tryptophan 2,3-dioxygenase activity			breast(3)|endometrium(1)|large_intestine(4)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	18	all_hematologic(180;0.24)	Renal(120;0.0854)		KIRC - Kidney renal clear cell carcinoma(143;0.0455)|Kidney(143;0.0568)|COAD - Colon adenocarcinoma(41;0.141)	L-Tryptophan(DB00150)	CCTCTGGGAGTTGGATTCTGT	0.338													A	156828909	T	A	156828909	3	1	755	1	0	0	0	0	1	0	0	0	15827	1722	60	5	282	5	TDO2	4	156828909	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		156828909	34325367	15	56701											
F2RL1	2150	broad.mit.edu	37	chr5	76129450	76129450	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctacccttaacagctgcatcGacccctttgtctattacttt	8	15	4	14	1	1	0	0	0	1	0	2	1	1	0	3	0	5	2	3	0	4	6			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:76129450G>A	ENST00000296677.4	+	2	1224	c.1018G>A	c.(1018-1020)Gac>Aac	p.D340N		NM_005242.4	NP_005233	P55085	PAR2_HUMAN	coagulation factor II (thrombin) receptor-like 1	340					blood coagulation|elevation of cytosolic calcium ion concentration|positive regulation of leukocyte chemotaxis|positive regulation of positive chemotaxis|regulation of blood coagulation	Golgi apparatus|integral to plasma membrane	receptor binding|thrombin receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	13		all_lung(232;0.000414)|Lung NSC(167;0.0011)|Ovarian(174;0.0129)|Prostate(461;0.11)		OV - Ovarian serous cystadenocarcinoma(54;7.7e-51)|Epithelial(54;2.77e-45)|all cancers(79;3.47e-41)		CAGCTGCATCGACCCCTTTGT	0.473													A	76129450	G	A	76129450	3	1	755	1	0	0	0	0	1	0	0	0	5386	1058	37	1	1024	1	F2RL1	5	76129450	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		76129450	104785810	16	56702											
DIAPH1	1729	broad.mit.edu	37	chr5	140960428	140960428	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtaggattccttcttctgtcTccaacatggtcttgattcca	7	16	7	11	0	4	1	0	1	4	0	7	2	6	2	3	2	1	1	3	2	2	6			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr5:140960428T>C	ENST00000253811.6	-	8	847	c.707A>G	c.(706-708)gAg>gGg	p.E236G	DIAPH1_ENST00000398557.4_Missense_Mutation_p.E236G|DIAPH1_ENST00000389054.3_Missense_Mutation_p.E236G|DIAPH1_ENST00000398562.2_Missense_Mutation_p.E227G|DIAPH1_ENST00000520569.1_Missense_Mutation_p.E182G|DIAPH1_ENST00000518047.1_Missense_Mutation_p.E227G|DIAPH1_ENST00000389057.5_Missense_Mutation_p.E227G|DIAPH1_ENST00000398566.3_Missense_Mutation_p.E227G			O60610	DIAP1_HUMAN	diaphanous-related formin 1	236	GBD/FH3.				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCTTCTGTCTCCAACATGGT	0.453													C	140960428	T	C	140960428	3	2	755	1	0	0	0	0	1	0	0	0	4557	1551	54	3	3195	3	DIAPH1	5	140960428	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08	64830978	140960428	39954832	17	56703											
ITPR3	3710	broad.mit.edu	37	chr6	33638466	33638466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctatgattccaacctcaaCgcgtcccgagatgacaagaa	14	7	8	12	3	1	4	1	2	0	2	3	5	3	4	3	0	3	1	3	0	5	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr6:33638466C>T	ENST00000374316.5	+	21	3520	c.2460C>T	c.(2458-2460)aaC>aaT	p.N820N	ITPR3_ENST00000605930.1_Silent_p.N820N			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	820					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CCAACCTCAACGCGTCCCGAG	0.587													T	33638466	C	T	33638466	2	4	755	1	0	0	0	0	0	0	0	1	7980	535	19	1		1	ITPR3	6	33638466	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		33638466	137476601	18	56704											
C7orf31	136895	broad.mit.edu	37	chr7	25194757	25194757	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggtggggaacatggcgccGcgacagatgtgtgtgtggta	9	8	18	6	3	0	1	0	0	0	1	0	3	0	2	1	5	1	1	1	5	3	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:25194757G>A	ENST00000409280.1	-	6	776	c.468C>T	c.(466-468)cgC>cgT	p.R156R	C7orf31_ENST00000283905.3_Silent_p.R156R			Q8N865	CG031_HUMAN	chromosome 7 open reading frame 31	156										autonomic_ganglia(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|stomach(1)	14						ACATGGCGCCGCGACAGATGT	0.502													A	25194757	G	A	25194757	2	1	755	1	0	0	0	0	0	0	0	1	2411	1074	38	1		1	C7orf31	7	25194757	Silent	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		25194757	133943906	19	56705											
ZNF479	90827	broad.mit.edu	37	chr7	57188689	57188689	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agttgacaaacattggttaaCttcactataacctcccttgt	12	14	5	10	0	1	1	1	1	0	0	2	1	2	1	2	1	3	2	2	1	4	7			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:57188689C>T	ENST00000331162.4	-	5	703	c.433G>A	c.(433-435)Gtt>Att	p.V145I		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	145					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			CATTGGTTAACTTCACTATAA	0.313													T	57188689	C	T	57188689	3	4	755	1	0	0	0	0	1	0	0	0	18034	565	20	2	1145	2	ZNF479	7	57188689	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	31993932	57188689	101949974	20	56706											
GRM3	2913	broad.mit.edu	37	chr7	86415600	86415600	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gcaaacctgctgcggctcttCcagatccctcagatcagcta	9	9	8	15	1	3	2	2	0	1	2	5	2	5	2	3	1	4	4	3	1	2	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr7:86415600C>G	ENST00000361669.2	+	3	1591	c.492C>G	c.(490-492)ttC>ttG	p.F164L	GRM3_ENST00000439827.1_Missense_Mutation_p.F164L|AC005009.2_ENST00000452471.1_RNA|GRM3_ENST00000536043.1_Missense_Mutation_p.F36L|GRM3_ENST00000546348.1_Intron|GRM3_ENST00000394720.2_Missense_Mutation_p.F162L|AC005009.2_ENST00000418031.1_RNA	NM_000840.2	NP_000831.2	Q14832	GRM3_HUMAN	glutamate receptor, metabotropic 3	164					synaptic transmission	integral to plasma membrane				NS(2)|breast(6)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(43)|ovary(3)|pancreas(2)|prostate(4)|skin(25)|upper_aerodigestive_tract(5)	109	Esophageal squamous(14;0.0058)|all_lung(186;0.132)|Lung NSC(181;0.142)				Acamprosate(DB00659)|Nicotine(DB00184)	TGCGGCTCTTCCAGATCCCTC	0.527													G	86415600	C	G	86415600	3	3	755	1	0	0	0	0	1	0	0	0	6853	854	30	4	498	4	GRM3	7	86415600	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	29226911	86415600	72723063	21	56707											
WAC	51322	broad.mit.edu	37	chr10	28906646	28906646	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcacatgtccgaaatttgtActgaattaaaaaatttaaga	17	14	5	5	1	1	2	1	1	0	1	2	3	2	2	1	0	1	1	1	0	7	6			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr10:28906646A>G	ENST00000375664.4	+	13	2281	c.1672A>G	c.(1672-1674)Act>Gct	p.T558A	WAC_ENST00000354911.4_Missense_Mutation_p.T603A|WAC_ENST00000347934.4_Missense_Mutation_p.T500A|WAC_ENST00000375646.1_Missense_Mutation_p.T451A			Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil						cell cycle checkpoint|histone H2B conserved C-terminal lysine ubiquitination|histone monoubiquitination|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|transcription, DNA-dependent	nuclear speck	chromatin binding|RNA polymerase II core binding			NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						CGAAATTTGTACTGAATTAAA	0.303													G	28906646	A	G	28906646	3	3	755	1	0	0	0	0	1	0	0	0	17349	391	14	3	1857	3	WAC	10	28906646	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08		28906646	106628101	22	56708											
TNNT3	7140	broad.mit.edu	37	chr11	1944796	1944796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccaatgcagagcagtacgaaGaagaaggtaattctggcaac	16	6	11	8	1	1	3	0	0	1	3	1	4	1	3	1	2	4	5	1	2	7	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:1944796G>A	ENST00000381558.1	+	4	322	c.43G>A	c.(43-45)Gaa>Aaa	p.E15K	TNNT3_ENST00000360603.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381548.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381579.3_Missense_Mutation_p.E15K|TNNT3_ENST00000446240.1_Intron|TNNT3_ENST00000278317.6_Missense_Mutation_p.E15K|TNNT3_ENST00000397301.1_Missense_Mutation_p.E15K|TNNT3_ENST00000381561.4_Missense_Mutation_p.E15K|TNNT3_ENST00000397304.2_Intron|TNNT3_ENST00000381549.3_Missense_Mutation_p.E15K|TNNT3_ENST00000381589.3_Missense_Mutation_p.E15K			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	15					muscle filament sliding|regulation of ATPase activity|regulation of striated muscle contraction|skeletal muscle contraction	cytosol|troponin complex	calcium-dependent protein binding|tropomyosin binding|troponin C binding|troponin I binding			breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GCAGTACGAAGAAGAAGGTAA	0.612													A	1944796	G	A	1944796	3	1	755	1	0	0	0	0	1	0	0	0	16432	943	33	2	53	2	TNNT3	11	1944796	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08		1944796	133061720	23	56709											
TRIM6-TRIM34	445372	broad.mit.edu	37	chr11	5655971	5655971	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agattggaagaagaagaaaaGaagacgctggataagtttgc	18	7	13	3	1	0	6	0	0	0	6	0	8	0	8	0	2	1	2	0	2	7	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5655971G>C	ENST00000354852.5	+	10	1865	c.1692G>C	c.(1690-1692)aaG>aaC	p.K564N	TRIM34_ENST00000514226.1_Missense_Mutation_p.K210N|TRIM6-TRIM34_ENST00000457787.2_Missense_Mutation_p.K210N|HBG2_ENST00000380259.2_Intron|TRIM34_ENST00000429814.2_Missense_Mutation_p.K210N	NM_001003819.3	NP_001003819.1	B2RNG4	B2RNG4_HUMAN		564						intracellular	zinc ion binding			NS(1)|breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(9)|ovary(1)|prostate(2)|stomach(2)|urinary_tract(1)	33		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;1.01e-08)|BRCA - Breast invasive adenocarcinoma(625;0.145)		AAGAAGAAAAGAAGACGCTGG	0.443													C	5655971	G	C	5655971	3	2	755	1	0	0	0	0	1	0	0	0	16635	933	33	4	1730	4	TRIM6-TRIM34	11	5655971	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	3711175	5655971	129350545	24	56710											
TRIM22	10346	broad.mit.edu	37	chr11	5719736	5719736	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	agcacgctcatctcagatctCcagcggaggttgaggggatc	9	8	13	11	2	3	2	2	1	2	1	6	4	3	4	1	4	2	3	1	4	0	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:5719736C>G	ENST00000379965.3	+	4	988	c.711C>G	c.(709-711)ctC>ctG	p.L237L	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	237					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		TCTCAGATCTCCAGCGGAGGT	0.542													G	5719736	C	G	5719736	2	3	755	1	0	0	0	0	0	0	0	1	16597	842	30	4		4	TRIM22	11	5719736	Silent	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08	63765	5719736	129286780	25	56711											
PPFIBP2	8495	broad.mit.edu	37	chr11	7586808	7586808	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaaacaggtgcagatcttaGtgatggtacttgtgagcctg	11	12	12	6	0	1	3	0	2	1	1	1	3	1	3	1	2	4	2	1	2	4	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:7586808G>A	ENST00000299492.4	+	3	477	c.89G>A	c.(88-90)aGt>aAt	p.S30N		NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	30					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		GCAGATCTTAGTGATGGTACT	0.527													A	7586808	G	A	7586808	3	1	755	1	0	0	0	0	1	0	0	0	12391	1029	36	2	95	2	PPFIBP2	11	7586808	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	1867072	7586808	127419708	26	56712											
DENND5A	23258	broad.mit.edu	37	chr11	9163597	9163597	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttccgggctcttgtatgccaGttttcctcagggactacttc	5	15	9	12	1	2	0	1	0	1	0	5	1	4	1	3	2	2	3	3	2	2	7			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:9163597G>C	ENST00000328194.3	-	22	3890	c.3570C>G	c.(3568-3570)aaC>aaG	p.N1190K	DENND5A_ENST00000530044.1_Missense_Mutation_p.N1190K|DENND5A_ENST00000527700.1_Missense_Mutation_p.N533K	NM_001243254.1|NM_015213.3	NP_001230183.1|NP_056028.2	Q6IQ26	DEN5A_HUMAN	DENN/MADD domain containing 5A	1190	RUN 2.									breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(16)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TTGTATGCCAGTTTTCCTCAG	0.453													C	9163597	G	C	9163597	3	2	755	1	0	0	0	0	1	0	0	0	4475	1020	36	4	301	4	DENND5A	11	9163597	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	1576789	9163597	125842919	27	56713											
OR5R1	219479	broad.mit.edu	37	chr11	56185068	56185068	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagatgtaggaggtgaggAcaatggaagaggaagagatc	17	6	16	2	0	0	4	0	1	0	3	1	9	0	8	0	5	0	1	0	5	6	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr11:56185068A>G	ENST00000312253.1	-	1	640	c.641T>C	c.(640-642)gTc>gCc	p.V214A		NM_001004744.1	NP_001004744.1	Q8NH85	OR5R1_HUMAN	olfactory receptor, family 5, subfamily R, member 1	214					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(17)|ovary(2)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)	37	Esophageal squamous(21;0.00448)					GGAGGTGAGGACAATGGAAGA	0.473													G	56185068	A	G	56185068	3	3	755	1	0	0	0	0	1	0	0	0	11256	275	10	3	335	3	OR5R1	11	56185068	Missense_Mutation	SNP	A	TCGA-TM-A84Q-01A-11D-A36O-08	47021471	56185068	78821448	28	56714											
FMNL3	91010	broad.mit.edu	37	chr12	50055824	50055824	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttcatcattcagaaattccCgcacccacctgcagataaag	13	10	5	13	1	3	2	3	0	0	2	4	2	4	2	3	0	1	2	3	0	3	4			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr12:50055824C>T	ENST00000335154.5	-	5	610	c.377G>A	c.(376-378)cGg>cAg	p.R126Q	FMNL3_ENST00000550488.1_Missense_Mutation_p.R126Q|FMNL3_ENST00000293590.5_Missense_Mutation_p.R126Q|FMNL3_ENST00000352151.5_Missense_Mutation_p.R126Q	NM_175736.4	NP_783863.4	Q8IVF7	FMNL3_HUMAN	formin-like 3	126	GBD/FH3.				actin cytoskeleton organization		actin binding|Rho GTPase binding	p.R126Q(1)		breast(4)|endometrium(7)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|pancreas(2)|prostate(2)|skin(2)|stomach(1)	39						CAGAAATTCCCGCACCCACCT	0.527													T	50055824	C	T	50055824	3	4	755	1	0	0	0	0	1	0	0	0	6002	652	23	1	2794	1	FMNL3	12	50055824	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		50055824	83796071	29	56715											
OR4K1	79544	broad.mit.edu	37	chr14	20404020	20404020	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtacttcttgctcagtaaTctttctttcattgatatctg	8	20	5	8	0	6	1	2	1	4	0	6	1	6	1	0	0	2	3	0	0	3	8			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr14:20404020T>C	ENST00000285600.4	+	1	254	c.195T>C	c.(193-195)aaT>aaC	p.N65N		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	65					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TGCTCAGTAATCTTTCTTTCA	0.383													C	20404020	T	C	20404020	2	2	755	1	0	0	0	0	0	0	0	1	11143	1432	50	3		3	OR4K1	14	20404020	Silent	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		20404020	86945520	30	56716											
BUB1B	701	broad.mit.edu	37	chr15	40498485	40498485	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaagacacttgtgactttgCcagagcagctcgttttgtat	10	13	10	8	1	0	4	0	1	0	3	1	4	0	4	1	0	3	4	1	0	2	5			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr15:40498485C>T	ENST00000287598.6	+	15	2030	c.1835C>T	c.(1834-1836)gCc>gTc	p.A612V	BUB1B_ENST00000412359.3_Missense_Mutation_p.A626V	NM_001211.5	NP_001202	O60566	BUB1B_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase B	612					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|cell division|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic prometaphase|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|phosphatidylinositol-mediated signaling|protein localization to kinetochore|spindle organization	anaphase-promoting complex|condensed chromosome outer kinetochore|cytosol|microtubule organizing center|perinuclear region of cytoplasm|spindle midzone	ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(1)|stomach(2)|urinary_tract(2)	36		all_cancers(109;1.12e-18)|all_epithelial(112;1.61e-15)|Lung NSC(122;5.63e-11)|all_lung(180;1.4e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;1.83e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0556)		TGTGACTTTGCCAGAGCAGCT	0.428			"Mis, N, F, S"			rhabdomyosarcoma			Mosaic Variegated Aneuploidy Syndrome				T	40498485	C	T	40498485	3	4	755	1	0	0	0	0	1	0	0	0	1581	739	26	2	1893	2	BUB1B	15	40498485	Missense_Mutation	SNP	C	TCGA-TM-A84Q-01A-11D-A36O-08		40498485	62032907	31	56717											
TP53	7157	broad.mit.edu	37	chr17	7577536	7577536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgatggtgaggatgggccTccggttcatgccgcccatgc	6	9	15	11	2	1	2	1	2	0	0	2	4	2	3	4	4	2	1	4	4	0	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr17:7577536T>C	ENST00000420246.2	-	7	877	c.745A>G	c.(745-747)Agg>Ggg	p.R249G	TP53_ENST00000455263.2_Missense_Mutation_p.R249G|TP53_ENST00000445888.2_Missense_Mutation_p.R249G|TP53_ENST00000359597.4_Missense_Mutation_p.R249G|TP53_ENST00000413465.2_Missense_Mutation_p.R249G|TP53_ENST00000269305.4_Missense_Mutation_p.R249G	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	249	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		R -> G (in sporadic cancers; somatic mutation).|R -> I (in a sporadic cancer; somatic mutation).|R -> K (in sporadic cancers; somatic mutation).|R -> M (in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> S (in sporadic cancers; somatic mutation; dbSNP:rs28934571).|R -> T (in sporadic cancers; somatic mutation).|R -> W (in sporadic cancers; somatic mutation).|RP -> SA (in a sporadic cancer; somatic mutation).|RP -> SS (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.R249W(37)|p.R249G(30)|p.0?(8)|p.?(5)|p.M246_P250delMNRRP(2)|p.R249R(1)|p.R248_P250delRRP(1)|p.R249_P250delRP(1)|p.N247_R248delNR(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R249fs*96(1)|p.G245fs*14(1)|p.R249fs*15(1)|p.R249fs*14(1)|p.R249_T256delRPILTIIT(1)|p.R249fs*19(1)|p.R249_I251delRPI(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)		AGGATGGGCCTCCGGTTCATG	0.567		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)			C	7577536	T	C	7577536	3	2	755	1	0	0	0	0	1	0	0	0	16482	1550	54	3	545	3	TP53	17	7577536	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		7577536	73617674	32	56718											
PRKCSH	5589	broad.mit.edu	37	chr19	11546952	11546952	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgagatgctgttgccgcTgctgctgctgctacccatgt	4	13	13	11	1	0	1	0	1	0	1	0	2	0	1	2	1	7	7	2	1	1	2			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:11546952T>C	ENST00000252455.2	+	2	350	c.14T>C	c.(13-15)cTg>cCg	p.L5P	PRKCSH_ENST00000589838.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000591462.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000592741.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000587327.1_Missense_Mutation_p.L5P|PRKCSH_ENST00000412601.1_Missense_Mutation_p.L5P	NM_002743.2	NP_002734.2	P14314	GLU2B_HUMAN	protein kinase C substrate 80K-H	5					innate immune response|intracellular protein kinase cascade|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen	calcium ion binding|protein kinase C binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)|pancreas(1)|prostate(3)	19						ctgttgccgctgctgctgctg	0.647											OREG0025257	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	11546952	T	C	11546952	3	2	755	1	0	0	0	0	1	0	0	0	12602	1580	55	3	16	3	PRKCSH	19	11546952	Missense_Mutation	SNP	T	TCGA-TM-A84Q-01A-11D-A36O-08		11546952	47582031	33	56719											
SPTBN4	57731	broad.mit.edu	37	chr19	41007853	41007853	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aacatggaggctccagatgaGaagtccatcatcacctacgt	13	8	9	11	1	2	2	2	1	0	2	4	4	4	3	3	2	2	1	3	2	3	1			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:41007853G>C	ENST00000352632.3	+	8	896	c.810G>C	c.(808-810)gaG>gaC	p.E270D	SPTBN4_ENST00000344104.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000598249.1_Missense_Mutation_p.E270D|SPTBN4_ENST00000338932.3_Missense_Mutation_p.E270D|SPTBN4_ENST00000595535.1_Missense_Mutation_p.E270D			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	270	Actin-binding.|CH 2.				actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCCAGATGAGAAGTCCATCA	0.507													C	41007853	G	C	41007853	3	2	755	1	0	0	0	0	1	0	0	0	15217	933	33	4	836	4	SPTBN4	19	41007853	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	29460901	41007853	18121130	34	56720											
PSG7	5676	broad.mit.edu	37	chr19	43428981	43428982	+	RNA	INS	-	-	G																															agggtaatgtccagtctacaINSgtggataataaaaacacaga																										TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:43428981_43428982insG	ENST00000406070.2	-	0	1340					NM_002783.2	NP_002774.2	Q13046	PSG7_HUMAN	pregnancy specific beta-1-glycoprotein 7 (gene/pseudogene)						female pregnancy	extracellular region							Prostate(69;0.00682)				tccagtctacagtggataataa	0.406													G	43428982	-	G	43428981	6	5	755	0	1	1	1	0	0	0	0	0	12745	203	7	0		0	PSG7	19	43428981	RNA	INS	-	TCGA-TM-A84Q-01A-11D-A36O-08	2421128	43428981	15700002	35	56721											
ZNF432	9668	broad.mit.edu	37	chr19	52538169	52538169	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaaagatttctctcttttatGaattctttgatgttcattta	11	21	4	5	0	4	3	1	2	3	1	5	3	4	3	0	0	0	1	0	0	5	8			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:52538169G>C	ENST00000594154.1	-	5	975	c.763C>G	c.(763-765)Cat>Gat	p.H255D	ZNF432_ENST00000221315.5_Missense_Mutation_p.H255D			O94892	ZN432_HUMAN	zinc finger protein 432	255					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	29		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.0054)|OV - Ovarian serous cystadenocarcinoma(262;0.0182)		TCTCTTTTATGAATTCTTTGA	0.378													C	52538169	G	C	52538169	3	2	755	1	0	0	0	0	1	0	0	0	18007	1290	45	4	1199	4	ZNF432	19	52538169	Missense_Mutation	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	9109188	52538169	6590814	36	56722											
NLRP5	126206	broad.mit.edu	37	chr19	56515394	56515394	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcatcgctggcctgggctacGtccattagcatctttgaaaa	9	11	10	11	2	1	1	0	1	1	0	3	1	2	1	2	2	2	4	2	2	4	3			TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chr19:56515394G>A	ENST00000390649.3	+	2	375	c.375G>A	c.(373-375)acG>acA	p.T125T		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	125	DAPIN.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		CCTGGGCTACGTCCATTAGCA	0.502													A	56515394	G	A	56515394	2	1	755	1	0	0	0	0	0	0	0	1	10556	1132	40	1		1	NLRP5	19	56515394	Silent	SNP	G	TCGA-TM-A84Q-01A-11D-A36O-08	3977225	56515394	2613589	37	56723											
ATRX	546	broad.mit.edu	37	chrX	76937741	76937744	+	Frame_Shift_Del	DEL	TTAC	TTAC	-																															atactgttgttccattttaaTtacttttttcttaaagtctg																										TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:76937741_76937744delTTAC	ENST00000373344.5	-	9	3218_3221	c.3004_3007delGTAA	c.(3004-3009)gtaattfs	p.VI1002fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.VI964fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1002					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)	TCCATTTTAATTACTTTTTTCTTA	0.333			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937744	TTAC	-	76937741	7	5	755	1	0	1	0	1	0	0	0	0	1213	1493	52	0	4579	0	ATRX	23	76937741	Frame_Shift_Del	DEL	TTAC	TCGA-TM-A84Q-01A-11D-A36O-08		76937741	78332819	38	56724											
ARMCX1	51309	broad.mit.edu	37	chrX	100808802	100808803	+	Frame_Shift_Ins	INS	-	-	TC																															agtgtgtgatgacaccatggINStctgtcgcttggactcagct																										TCGA-TM-A84Q-01A-11D-A36O-08	TCGA-TM-A84Q-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	9569f2bb-c8ba-4984-984d-9637e61ccd9e	27e25791-6c86-485b-9dc6-47ce27fde7df	g.chrX:100808802_100808803insTC	ENST00000372829.3	+	4	1260_1261	c.889_890insTC	c.(889-891)gtcfs	p.V297fs		NM_016608.1	NP_057692.1	Q9P291	ARMX1_HUMAN	armadillo repeat containing, X-linked 1	297						integral to membrane	binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(2)|ovary(3)|pancreas(1)|urinary_tract(1)	19						TGACACCATGGTCTGTCGCTTG	0.426													TC	100808803	-	TC	100808802	7	5	755	1	0	1	1	0	0	0	0	0	964	1261	44	0	891	0	ARMCX1	23	100808802	Frame_Shift_Ins	INS	-	TCGA-TM-A84Q-01A-11D-A36O-08	23871061	100808802	54461758	39	56725											
UBR3	130507	broad.mit.edu	37	chr2	170863700	170863700	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgaccgggagctttcccAgtaagcatcagtgtaaggca	11	7	13	10	2	1	0	1	0	0	0	2	3	2	2	2	3	2	5	2	3	2	3			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr2:170863700A>G	ENST00000272793.5	+	28	4280	c.4230A>G	c.(4228-4230)ccA>ccG	p.P1410P	UBR3_ENST00000418381.1_Splice_Site_p.P1410P|UBR3_ENST00000392631.1_Splice_Site_p.P231P			Q6ZT12	UBR3_HUMAN	ubiquitin protein ligase E3 component n-recognin 3 (putative)	1410					sensory perception of smell|suckling behavior|ubiquitin-dependent protein catabolic process	integral to membrane	ubiquitin-protein ligase activity|zinc ion binding			breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(3)|stomach(1)	33						GAGCTTTCCCAGTAAGCATCA	0.403													G	170863700	A	G	170863700	5	3	756	1	0	0	0	0	0	0	1	0	17005	202	7	3	4340	3	UBR3	2	170863700	Splice_Site	SNP	A	TCGA-TM-A84R-01A-21D-A36O-08		170863700	72335673	1	56726											
USP4	7375	broad.mit.edu	37	chr3	49335318	49335318	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcacacgaaaatgtcatccCgaggcatgatgtggtttaaa	13	10	9	9	2	2	1	2	1	0	0	3	3	3	1	1	2	0	2	1	2	4	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr3:49335318C>T	ENST00000351842.4	-	12	1543	c.1535G>A	c.(1534-1536)cGg>cAg	p.R512Q	USP4_ENST00000265560.4_Missense_Mutation_p.R559Q	NM_199443.2	NP_955475.1	Q13107	UBP4_HUMAN	ubiquitin specific peptidase 4 (proto-oncogene)	559					negative regulation of protein ubiquitination|protein deubiquitination|protein localization at cell surface|regulation of protein stability|ubiquitin-dependent protein catabolic process	lysosome|nucleus	adenosine receptor binding|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Ovarian(412;0.00308)|Myeloproliferative disorder(1037;0.0255)|Hepatocellular(537;0.121)		OV - Ovarian serous cystadenocarcinoma(275;4.74e-26)|Kidney(197;2.22e-07)|KIRC - Kidney renal clear cell carcinoma(197;5.14e-06)|BRCA - Breast invasive adenocarcinoma(193;9.46e-05)		AATGTCATCCCGAGGCATGAT	0.418													T	49335318	C	T	49335318	3	4	756	1	0	0	0	0	1	0	0	0	17173	652	23	1	1255	1	USP4	3	49335318	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		49335318	148687112	2	56727											
BRD2	6046	broad.mit.edu	37	chr6	32944712	32944712	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catggacctcagcactgtcaAggtacccactgcatggggca	10	7	11	13	0	2	0	2	0	0	0	2	1	2	1	2	4	3	4	2	4	2	1			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr6:32944712A>G	ENST00000395289.2	+	7	2800	c.1199A>G	c.(1198-1200)aAg>aGg	p.K400R	BRD2_ENST00000374825.4_Splice_Site_p.K400R|BRD2_ENST00000443797.2_Splice_Site_p.K280R|BRD2_ENST00000374831.4_Splice_Site_p.K400R|BRD2_ENST00000395287.1_Splice_Site_p.K400R|BRD2_ENST00000449085.2_Splice_Site_p.K353R			P25440	BRD2_HUMAN	bromodomain containing 2	400	Bromo 2.				spermatogenesis	nucleus	protein serine/threonine kinase activity			central_nervous_system(3)|stomach(2)	5						AGCACTGTCAAGGTACCCACT	0.512													G	32944712	A	G	32944712	5	3	756	1	0	0	0	0	0	0	1	0	1511	86	3	3	1221	3	BRD2	6	32944712	Splice_Site	SNP	A	TCGA-TM-A84R-01A-21D-A36O-08		32944712	138170355	3	56728											
TNRC18	84629	broad.mit.edu	37	chr7	5428871	5428871	+	Frame_Shift_Del	DEL	G	G	-																															gcgacgacgagcctttggccGgggcgcccgaggagtggccg																										TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:5428871delG	ENST00000399537.4	-	5	932	c.584delC	c.(583-585)ccgfs	p.P195fs	TNRC18_ENST00000430969.1_Frame_Shift_Del_p.P195fs			O15417	TNC18_HUMAN	trinucleotide repeat containing 18	195							DNA binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		GCCTTTGGCCGGGGCGCCCGA	0.776													-	5428871	G	-	5428871	7	5	756	1	0	1	0	1	0	0	0	0	16439	1116	39	0	8426	0	TNRC18	7	5428871	Frame_Shift_Del	DEL	G	TCGA-TM-A84R-01A-21D-A36O-08		5428871	153709792	4	56729											
GPNMB	10457	broad.mit.edu	37	chr7	23293803	23293803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaggaggccgtgtgcaggCggtcctgaccagtgactcac	7	7	14	13	2	1	2	1	2	0	0	2	3	2	3	4	4	1	1	4	4	1	1	rs145407985		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr7:23293803C>T	ENST00000258733.4	+	3	534	c.239C>T	c.(238-240)gCg>gTg	p.A80V	GPNMB_ENST00000539136.1_Intron|GPNMB_ENST00000453162.2_Missense_Mutation_p.A80V|GPNMB_ENST00000409458.3_Missense_Mutation_p.A80V|GPNMB_ENST00000381990.2_Missense_Mutation_p.A80V			Q14956	GPNMB_HUMAN	glycoprotein (transmembrane) nmb	80					negative regulation of cell proliferation	melanosome		p.A80V(1)		breast(5)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(7)|liver(2)|lung(17)|ovary(3)|stomach(2)	41			GBM - Glioblastoma multiforme(13;0.154)			CGTGTGCAGGCGGTCCTGACC	0.458													T	23293803	C	T	23293803	3	4	756	1	0	0	0	0	1	0	0	0	6674	768	27	1	249	1	GPNMB	7	23293803	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08	17864932	23293803	135844860	5	56730											
GNA14	9630	broad.mit.edu	37	chr9	80043895	80043895	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaataatggaggtgacactCtcaaagcagtgaatccactt	16	9	8	8	0	1	2	1	2	1	0	3	3	2	3	1	2	1	1	1	2	5	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr9:80043895C>A	ENST00000341700.6	-	5	1164	c.651G>T	c.(649-651)gaG>gaT	p.E217D	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	217					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity			endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						AGGTGACACTCTCAAAGCAGT	0.483													A	80043895	C	A	80043895	3	1	756	1	0	0	0	0	1	0	0	0	6558	912	32	4	428	4	GNA14	9	80043895	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		80043895	61169536	6	56731											
HMX3	340784	broad.mit.edu	37	chr10	124895699	124895699	+	Frame_Shift_Del	DEL	C	C	-																															acggagaccaccaccggccgCcccctaagcctcagccgccc																										TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr10:124895699delC	ENST00000357878.5	+	1	222	c.133delC	c.(133-135)cccfs	p.P46fs		NM_001105574.1	NP_001099044.1	A6NHT5	HMX3_HUMAN	H6 family homeobox 3	46	Pro-rich.				cell differentiation	nucleus	sequence-specific DNA binding transcription factor activity			lung(4)	4		all_neural(114;0.0765)|Colorectal(57;0.102)|all_lung(145;0.11)|Lung NSC(174;0.163)		Colorectal(40;0.122)|COAD - Colon adenocarcinoma(40;0.141)		CCACCGGCCGCCCCCTAAGCC	0.766													-	124895699	C	-	124895699	7	5	756	1	0	1	0	1	0	0	0	0	7303	739	26	0	135	0	HMX3	10	124895699	Frame_Shift_Del	DEL	C	TCGA-TM-A84R-01A-21D-A36O-08		124895699	10639048	7	56732											
RTN4RL2	349667	broad.mit.edu	37	chr11	57243804	57243804	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccttccgcggcctcagccGcctcaccatcctctacctgt	4	9	8	20	3	3	0	2	0	1	0	5	0	5	0	8	2	2	0	8	2	1	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr11:57243804G>A	ENST00000335099.3	+	3	1000	c.683G>A	c.(682-684)cGc>cAc	p.R228H		NM_178570.1	NP_848665.1	Q86UN3	R4RL2_HUMAN	reticulon 4 receptor-like 2	228					axon regeneration	anchored to plasma membrane	receptor activity			NS(1)|endometrium(1)|large_intestine(2)|lung(2)	6						GGCCTCAGCCGCCTCACCATC	0.701													A	57243804	G	A	57243804	3	1	756	1	0	0	0	0	1	0	0	0	13823	1087	38	1	693	1	RTN4RL2	11	57243804	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		57243804	77762712	8	56733											
KRT83	3889	broad.mit.edu	37	chr12	52710275	52710275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacttggcattctccacctCggctgtcagcctctggatca	6	11	9	15	1	4	0	2	0	2	0	6	1	4	1	3	3	1	3	3	3	0	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:52710275C>T	ENST00000293670.3	-	6	1080	c.1018G>A	c.(1018-1020)Gag>Aag	p.E340K		NM_002282.3	NP_002273.3	P78385	KRT83_HUMAN	keratin 83	340	Coil 2.|Rod.				epidermis development	keratin filament	structural molecule activity			NS(1)|central_nervous_system(1)|endometrium(4)|large_intestine(4)|lung(9)|prostate(1)|skin(4)|stomach(7)|upper_aerodigestive_tract(1)	32	Myeloproliferative disorder(4;0.0484)|all_hematologic(5;0.088)			BRCA - Breast invasive adenocarcinoma(357;0.189)		TTCTCCACCTCGGCTGTCAGC	0.597													T	52710275	C	T	52710275	3	4	756	1	0	0	0	0	1	0	0	0	8555	893	31	1	479	1	KRT83	12	52710275	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08		52710275	81141620	9	56734											
NCOR2	9612	broad.mit.edu	37	chr12	124887093	124887094	+	In_Frame_Ins	INS	-	-	TGT																															gctgctgctgctgctgctgcINStgttgttgctgctgctgtca																										TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr12:124887093_124887094insTGT	ENST00000356219.3	-	15	1651_1652	c.1496_1497insACA	c.(1495-1497)cag>caACAg	p.499_499Q>QQ	NCOR2_ENST00000397355.1_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000404621.1_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000405201.1_In_Frame_Ins_p.499_499Q>QQ|NCOR2_ENST00000429285.2_In_Frame_Ins_p.498_498Q>QQ|NCOR2_ENST00000404121.2_In_Frame_Ins_p.69_69Q>QQ	NM_006312.5	NP_006303.4	Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	499	Poly-Gln.				cellular lipid metabolic process|negative regulation of transcription from RNA polymerase II promoter|regulation of cellular ketone metabolic process by negative regulation of transcription from an RNA polymerase II promoter|transcription, DNA-dependent	nuclear body|nucleus|transcriptional repressor complex	DNA binding|histone deacetylase binding|Notch binding|protein N-terminus binding|transcription corepressor activity	p.Q499Q(9)		breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		gctgctgctgctgttgttgctg	0.619													TGT	124887094	-	TGT	124887093	7	5	756	1	0	1	1	0	0	0	0	0	10312	796	28	0	6207	0	NCOR2	12	124887093	In_Frame_Ins	INS	-	TCGA-TM-A84R-01A-21D-A36O-08	72176818	124887093	8964802	10	56735											
C1QTNF9	338872	broad.mit.edu	37	chr13	24892993	24892993	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggcagcccggggaaggatggGacgagtggagagaagggaga	12	2	22	5	2	0	2	0	0	0	2	0	9	0	6	1	7	1	1	1	7	2	0			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr13:24892993G>A	ENST00000382071.2	+	3	289	c.204G>A	c.(202-204)ggG>ggA	p.G68G	RP11-307N16.6_ENST00000382141.4_3'UTR|C1QTNF9_ENST00000332018.4_Silent_p.G68G|C1QTNF9-AS1_ENST00000449656.1_RNA			P0C862	C1T9A_HUMAN	C1q and tumor necrosis factor related protein 9	68	Collagen-like 1.					collagen	hormone activity			endometrium(1)|kidney(2)|lung(6)	9		all_cancers(29;3.55e-20)|all_epithelial(30;4.25e-17)|all_lung(29;1.04e-16)|Lung SC(185;0.0225)|Breast(139;0.052)		all cancers(112;0.00565)|Epithelial(112;0.027)|OV - Ovarian serous cystadenocarcinoma(117;0.115)|Lung(94;0.159)		GGAAGGATGGGACGAGTGGAG	0.463													A	24892993	G	A	24892993	2	1	756	1	0	0	0	0	0	0	0	1	1990	1161	41	2		2	C1QTNF9	13	24892993	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		24892993	90276885	11	56736											
OR4L1	122742	broad.mit.edu	37	chr14	20528495	20528495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctctgtgtggggctgcGtgacccagatgttcttcatg	5	13	12	11	1	3	2	1	1	2	1	4	2	3	2	2	2	1	2	2	2	0	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr14:20528495G>A	ENST00000315683.1	+	1	292	c.292G>A	c.(292-294)Gtg>Atg	p.V98M		NM_001004717.1	NP_001004717.1	Q8NH43	OR4L1_HUMAN	olfactory receptor, family 4, subfamily L, member 1	98					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(16)|ovary(2)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	34	all_cancers(95;0.00108)		Epithelial(56;4.65e-07)|all cancers(55;2.9e-06)	GBM - Glioblastoma multiforme(265;0.0064)		GTGGGGCTGCGTGACCCAGAT	0.468													A	20528495	G	A	20528495	3	1	756	1	0	0	0	0	1	0	0	0	11150	1145	40	1	294	1	OR4L1	14	20528495	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		20528495	86821045	12	56737											
TUBGCP5	114791	broad.mit.edu	37	chr15	22861861	22861861	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accaaggagaacctgatgaaGatgcagtccattgctgaaag	15	7	11	8	0	0	5	0	3	0	2	1	6	1	5	3	1	3	2	3	1	4	1			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:22861861G>A	ENST00000283645.4	+	14	2011	c.1881G>A	c.(1879-1881)aaG>aaA	p.K627K	TUBGCP5_ENST00000559846.1_3'UTR|TUBGCP5_ENST00000453949.2_Silent_p.K627K	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	627					G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		ACCTGATGAAGATGCAGTCCA	0.468													A	22861861	G	A	22861861	2	1	756	1	0	0	0	0	0	0	0	1	16871	933	33	2		2	TUBGCP5	15	22861861	Silent	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		22861861	79669531	13	56738											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:90631838C>A	ENST00000330062.3	-	4	628	c.515G>T	c.(514-516)aGg>aTg	p.R172M	IDH2_ENST00000540499.2_Missense_Mutation_p.R120M|IDH2_ENST00000539790.1_Missense_Mutation_p.R42M|IDH2_ENST00000559482.1_Intron	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								A	90631838	C	A	90631838	3	1	756	1	0	0	0	0	1	0	0	0	7553	681	24	4	875	4	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-TM-A84R-01A-21D-A36O-08	67769977	90631838	11899554	14	56739											
IGF1R	3480	broad.mit.edu	37	chr15	99465453	99465453	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagcaggaacaccacggccGcagacacctacaacatcacc	15	2	8	16	2	1	1	1	0	0	1	1	3	1	2	4	2	4	2	4	2	4	1	rs70958396		TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr15:99465453G>A	ENST00000268035.6	+	11	2889	c.2278G>A	c.(2278-2280)Gca>Aca	p.A760T	IGF1R_ENST00000558762.1_Missense_Mutation_p.A760T	NM_000875.3	NP_000866.1	P08069	IGF1R_HUMAN	insulin-like growth factor 1 receptor	760					anti-apoptosis|immune response|insulin receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell migration|positive regulation of cell proliferation|positive regulation of DNA replication|protein autophosphorylation|protein tetramerization	microsome	ATP binding|identical protein binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor I binding|insulin-like growth factor receptor activity|metal ion binding|phosphatidylinositol 3-kinase binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(13)|lung(20)|ovary(1)|prostate(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_cancers(4;4.17e-14)|all_epithelial(3;4.34e-15)|Lung NSC(78;0.00175)|all_lung(78;0.00351)|Melanoma(26;0.00505)|Medulloblastoma(229;0.163)		Epithelial(2;1.94e-12)|all cancers(5;6.83e-11)|BRCA - Breast invasive adenocarcinoma(2;2.88e-09)|OV - Ovarian serous cystadenocarcinoma(32;0.00261)		Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Mecasermin(DB01277)	CACCACGGCCGCAGACACCTA	0.527													A	99465453	G	A	99465453	3	1	756	1	0	0	0	0	1	0	0	0	7629	1087	38	1	2320	1	IGF1R	15	99465453	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08	8833615	99465453	3065939	15	56740											
KIF16B	55614	broad.mit.edu	37	chr20	16360693	16360693	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaggctctcctcctgcttgcGaatctggagctgcacgattt	6	12	11	12	2	2	0	0	0	2	0	4	4	3	1	2	2	4	4	2	2	1	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr20:16360693G>A	ENST00000354981.2	-	19	2111	c.1954C>T	c.(1954-1956)Cgc>Tgc	p.R652C	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.R652C|KIF16B_ENST00000355755.3_Missense_Mutation_p.R652C	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	652	Glu-rich.				cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						TCCTGCTTGCGAATCTGGAGC	0.517													A	16360693	G	A	16360693	3	1	756	1	0	0	0	0	1	0	0	0	8336	1058	37	1	2031	1	KIF16B	20	16360693	Missense_Mutation	SNP	G	TCGA-TM-A84R-01A-21D-A36O-08		16360693	46664827	16	56741											
GSTT1	2952	broad.mit.edu	37	chr22	24379404	24379404	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcttctccgcagagtcgtgTgctgccatgccaggtactca	7	10	11	13	2	2	1	1	0	1	1	4	1	2	1	3	1	5	4	3	1	1	2			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chr22:24379404T>C	ENST00000248935.5	-	3	360	c.308A>G	c.(307-309)cAc>cGc	p.H103R	GSTT1_ENST00000439996.2_5'UTR	NM_000853.2	NP_000844.2	P30711	GSTT1_HUMAN	glutathione S-transferase theta 1	103	GST C-terminal.				glutathione metabolic process	cytosol|soluble fraction	glutathione peroxidase activity|glutathione transferase activity			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|ovary(1)|prostate(1)|skin(1)	6					Glutathione(DB00143)	CAGAGTCGTGTGCTGCCATGC	0.607									Myelodysplasia and Acute Myeloid Leukemia (AML), Familial				C	24379404	T	C	24379404	3	2	756	1	0	0	0	0	1	0	0	0	6900	1696	59	3	426	3	GSTT1	22	24379404	Missense_Mutation	SNP	T	TCGA-TM-A84R-01A-21D-A36O-08		24379404	26925162	17	56742											
GLUD2	2747	broad.mit.edu	37	chrX	120182972	120182972	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagagtttagaaagaaaattTggaaagcatggtggaactat	17	10	12	2	0	0	3	0	0	0	3	0	6	0	5	0	3	2	2	0	3	7	4			TCGA-TM-A84R-01A-21D-A36O-08	TCGA-TM-A84R-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be058c4c-ac5b-4de5-8182-93cefb089168	e7293682-ad76-4f1e-97f8-59ef2d8fd64a	g.chrX:120182972T>C	ENST00000328078.1	+	1	1511	c.1434T>C	c.(1432-1434)ttT>ttC	p.F478F		NM_012084.3	NP_036216.2	P49448	DHE4_HUMAN	glutamate dehydrogenase 2	478					glutamate biosynthetic process|glutamate catabolic process	mitochondrial matrix	ADP binding|glutamate dehydrogenase|glutamate dehydrogenase activity|GTP binding|leucine binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|pancreas(1)|urinary_tract(1)	38					L-Glutamic Acid(DB00142)|NADH(DB00157)	AAAGAAAATTTGGAAAGCATG	0.428													C	120182972	T	C	120182972	2	2	756	1	0	0	0	0	0	0	0	1	6533	1809	63	3		3	GLUD2	23	120182972	Silent	SNP	T	TCGA-TM-A84R-01A-21D-A36O-08		120182972	35087588	18	56743											
ARID1A	8289	broad.mit.edu	37	chr1	27101006	27101006	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcagcaagatgtatacaacCagtatggcaatgcctatcct	13	10	7	11	0	1	1	1	0	0	1	2	1	2	1	3	1	4	4	3	1	7	4			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr1:27101006C>T	ENST00000324856.7	+	18	4659	c.4288C>T	c.(4288-4290)Cag>Tag	p.Q1430*	ARID1A_ENST00000540690.1_Intron|ARID1A_ENST00000457599.2_Intron|ARID1A_ENST00000374152.2_Nonsense_Mutation_p.Q1047*	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	1430					androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		TGTATACAACCAGTATGGCAA	0.627			"Mis, N, F, S, D"		"clear cell ovarian carcinoma, RCC"								T	27101006	C	T	27101006	4	4	757	1	0	0	0	0	0	1	0	0	916	595	21	2	4358	2	ARID1A	1	27101006	Nonsense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		27101006	222149615	1	56744											
CCDC88A	55704	broad.mit.edu	37	chr2	55566774	55566774	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcacctcatggcccagggaTttctggggtgctataatatt	8	14	10	9	0	3	0	2	0	1	0	3	1	3	1	2	4	1	1	2	4	3	6			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:55566774T>C	ENST00000436346.1	-	13	2185	c.1344A>G	c.(1342-1344)aaA>aaG	p.K448K	AC012358.8_ENST00000594078.1_RNA|CCDC88A_ENST00000336838.6_Silent_p.K448K|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000599352.1_RNA|AC012358.8_ENST00000600219.1_RNA|CCDC88A_ENST00000413716.2_Silent_p.K448K|CCDC88A_ENST00000263630.8_Silent_p.K448K	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	448					activation of protein kinase B activity|cell migration|cellular membrane organization|DNA replication|lamellipodium assembly|microtubule cytoskeleton organization|regulation of actin cytoskeleton organization|regulation of cell proliferation|regulation of DNA replication|regulation of neuron projection development|TOR signaling cascade	cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|Golgi apparatus|lamellipodium|plasma membrane	actin binding|microtubule binding|phosphatidylinositol binding|protein homodimerization activity|protein kinase B binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						GGCCCAGGGATTTCTGGGGTG	0.338													C	55566774	T	C	55566774	2	2	757	1	0	0	0	0	0	0	0	1	2891	1490	52	3		3	CCDC88A	2	55566774	Silent	SNP	T	TCGA-TM-A84S-01A-11D-A36O-08		55566774	187632599	2	56745											
ITGB6	3694	broad.mit.edu	37	chr2	161052119	161052119	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatgcacctgcagagtctgCgcaccacctgcaaagcccaa	12	5	8	16	1	1	1	0	0	1	1	1	1	1	1	4	0	5	4	4	0	2	0			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:161052119C>T	ENST00000283249.2	-	4	591	c.354G>A	c.(352-354)gcG>gcA	p.A118A	ITGB6_ENST00000485635.1_5'UTR|ITGB6_ENST00000409967.2_Silent_p.A118A|ITGB6_ENST00000409872.1_Silent_p.A118A|ITGB6_ENST00000428609.2_Silent_p.A76A	NM_001282353.1|NM_001282354.1|NM_001282388.1	NP_001269282.1|NP_001269283.1|NP_001269317.1	P18564	ITB6_HUMAN	integrin, beta 6	118					cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|multicellular organismal development	integrin complex	receptor activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	23						GCAGAGTCTGCGCACCACCTG	0.532													T	161052119	C	T	161052119	2	4	757	1	0	0	0	0	0	0	0	1	7957	755	27	1		1	ITGB6	2	161052119	Silent	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	105485345	161052119	82147254	3	56746											
TLK1	9874	broad.mit.edu	37	chr2	171863512	171863512	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttctttcttctcatctctcCagcttttattaagctgatgt	6	21	4	10	0	4	1	1	1	4	0	7	1	5	1	1	0	2	2	1	0	2	6			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr2:171863512C>G	ENST00000442919.2	-	15	1949	c.1334G>C	c.(1333-1335)tGg>tCg	p.W445S	TLK1_ENST00000521943.1_Missense_Mutation_p.W445S|TLK1_ENST00000431350.2_Missense_Mutation_p.W493S|TLK1_ENST00000360843.3_Missense_Mutation_p.W514S|TLK1_ENST00000434911.2_Missense_Mutation_p.W397S	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	493					cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						CTCATCTCTCCAGCTTTTATT	0.294													G	171863512	C	G	171863512	3	3	757	1	0	0	0	0	1	0	0	0	16043	595	21	4	850	4	TLK1	2	171863512	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	10811393	171863512	71335861	4	56747											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	757	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	37249600	209113112	34086261	5	56748											
PIK3CA	5290	broad.mit.edu	37	chr3	178952072	178952072	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tggagtatttcatgaaacaaAtgaatgatgcacatcatggt	15	12	9	5	0	2	3	2	3	0	0	2	4	2	4	0	2	2	2	0	2	4	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr3:178952072A>G	ENST00000263967.3	+	21	3284	c.3127A>G	c.(3127-3129)Atg>Gtg	p.M1043V		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1043	PI3K/PI4K.		M -> I (in cancer; shows an increase in lipid kinase activity).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.M1043V(22)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CATGAAACAAATGAATGATGC	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952072	A	G	178952072	3	3	757	1	0	0	0	0	1	0	0	0	11990	101	4	3	3205	3	PIK3CA	3	178952072	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08		178952072	19070358	6	56749											
SLC45A2	51151	broad.mit.edu	37	chr5	33951714	33951714	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagccccaacatccaacctcGactcctctttcgtagatgag	11	9	6	15	2	1	2	0	1	1	1	5	3	3	2	5	0	3	1	5	0	4	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:33951714G>A	ENST00000382102.3	-	5	1158	c.1101C>T	c.(1099-1101)gtC>gtT	p.V367V	SLC45A2_ENST00000509381.1_3'UTR|SLC45A2_ENST00000342059.3_Silent_p.V308V|SLC45A2_ENST00000345083.5_Silent_p.V259V|SLC45A2_ENST00000296589.4_Silent_p.V367V	NM_001012509.2	NP_001012527	Q9UMX9	S45A2_HUMAN	solute carrier family 45, member 2	367					melanin biosynthetic process|response to stimulus|transmembrane transport|visual perception	integral to membrane|melanosome membrane				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(25)|ovary(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	48						ATCCAACCTCGACTCCTCTTT	0.453													A	33951714	G	A	33951714	2	1	757	1	0	0	0	0	0	0	0	1	14735	1045	37	1		1	SLC45A2	5	33951714	Silent	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		33951714	146963546	7	56750											
AFF4	27125	broad.mit.edu	37	chr5	132262879	132262879	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatagccgttagagggggAggccatgaatgcgtcatctc	10	9	14	8	2	2	3	1	2	1	1	3	4	2	4	2	3	2	1	2	3	4	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:132262879A>G	ENST00000265343.5	-	5	1363	c.984T>C	c.(982-984)ccT>ccC	p.P328P	AFF4_ENST00000378595.3_Silent_p.P328P|AFF4_ENST00000491831.1_5'UTR	NM_014423.3	NP_055238.1	Q9UHB7	AFF4_HUMAN	AF4/FMR2 family, member 4	328	Ser-rich.				transcription from RNA polymerase II promoter	mitochondrion|nucleolus	protein binding|sequence-specific DNA binding transcription factor activity		SEPT8/AFF4(2)	breast(2)|central_nervous_system(2)|endometrium(6)|kidney(6)|large_intestine(7)|lung(11)|ovary(3)|pancreas(1)|prostate(3)|skin(2)	43		all_cancers(142;0.145)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TTAGAGGGGGAGGCCATGAAT	0.333													G	132262879	A	G	132262879	2	3	757	1	0	0	0	0	0	0	0	1	359	291	11	3		3	AFF4	5	132262879	Silent	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08	98311165	132262879	48652381	8	56751											
KCNIP1	30820	broad.mit.edu	37	chr5	170160874	170160874	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	taaagatggcatcgtaacttTagatgaatttcttgaatcat	14	15	7	5	1	2	4	1	2	1	2	3	4	2	4	0	1	1	2	0	1	6	6			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:170160874T>C	ENST00000328939.4	+	7	1112	c.575T>C	c.(574-576)tTa>tCa	p.L192S	KCNIP1_ENST00000411494.1_Missense_Mutation_p.L203S|KCNIP1_ENST00000434108.1_Missense_Mutation_p.L217S|KCNIP1_ENST00000377360.4_Missense_Mutation_p.L201S|KCNIP1_ENST00000520740.1_Missense_Mutation_p.L164S|KCNIP1_ENST00000390656.4_Missense_Mutation_p.L192S	NM_001034837.1|NM_014592.2	NP_001030009.1|NP_055407.1	Q9NZI2	KCIP1_HUMAN	Kv channel interacting protein 1	203	EF-hand 4.				detection of calcium ion|signal transduction|synaptic transmission	plasma membrane	potassium channel activity|voltage-gated ion channel activity			autonomic_ganglia(1)|large_intestine(7)|lung(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	18	Renal(175;0.000159)|Lung NSC(126;0.0191)|all_lung(126;0.0297)	Medulloblastoma(196;0.0109)|all_neural(177;0.0177)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			ATCGTAACTTTAGATGAATTT	0.428													C	170160874	T	C	170160874	3	2	757	1	0	0	0	0	1	0	0	0	8097	1764	61	3	730	3	KCNIP1	5	170160874	Missense_Mutation	SNP	T	TCGA-TM-A84S-01A-11D-A36O-08	37897995	170160874	10754386	9	56752											
MGAT4B	11282	broad.mit.edu	37	chr5	179228989	179228989	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcaggtggtaggcaagcCgtcacgagggggcggtctag	7	6	18	10	3	2	0	1	0	1	0	2	1	2	0	2	6	2	3	2	6	3	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr5:179228989C>T	ENST00000337755.5	-	1	1009	c.123G>A	c.(121-123)acG>acA	p.T41T	MGAT4B_ENST00000521305.1_Intron|MGAT4B_ENST00000292591.7_Intron	NM_054013.3	NP_463459.1	Q9UQ53	MGT4B_HUMAN	mannosyl (alpha-1,3-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase, isozyme B	0					N-glycan processing|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi membrane|integral to membrane	alpha-1,3-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity|metal ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	13	all_cancers(89;0.000201)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0525)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTAGGCAAGCCGTCACGAGGG	0.627											OREG0017110	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	179228989	C	T	179228989	2	4	757	1	0	0	0	0	0	0	0	1	9621	639	23	1		1	MGAT4B	5	179228989	Silent	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	9068115	179228989	1686271	10	56753											
ADAMTS20	80070	broad.mit.edu	37	chr12	43944836	43944836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aggccccgcgctccggggttCccaagtgcacctcggtgtag	5	7	14	15	4	0	0	0	0	0	0	3	0	2	0	5	4	1	4	5	4	2	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:43944836C>T	ENST00000389420.3	-	2	328	c.329G>A	c.(328-330)gGa>gAa	p.G110E	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G110E	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	110						proteinaceous extracellular matrix	zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTCCGGGGTTCCCAAGTGCAC	0.657													T	43944836	C	T	43944836	3	4	757	1	0	0	0	0	1	0	0	0	266	855	30	2	5554	2	ADAMTS20	12	43944836	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		43944836	89907059	11	56754											
ARHGAP9	64333	broad.mit.edu	37	chr12	57867389	57867389	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggttctgtcttcctgacctgCataaatgctccaggaggtac	8	12	10	11	0	2	1	0	1	2	0	4	2	4	2	3	3	3	4	3	3	3	4			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr12:57867389C>T	ENST00000393797.2	-	20	2483	c.2291G>A	c.(2290-2292)tGc>tAc	p.C764Y	ARHGAP9_ENST00000356411.2_Missense_Mutation_p.C693Y|ARHGAP9_ENST00000393791.3_Missense_Mutation_p.C674Y|ARHGAP9_ENST00000430041.2_Missense_Mutation_p.C490Y|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000424809.2_Intron			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	693					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TCCTGACCTGCATAAATGCTC	0.517													T	57867389	C	T	57867389	3	4	757	1	0	0	0	0	1	0	0	0	892	710	25	2	182	2	ARHGAP9	12	57867389	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	13922553	57867389	75984506	12	56755											
PPIP5K1	9677	broad.mit.edu	37	chr15	43827518	43827518	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	agagctcttgtgctccactcCcaggggtctcctggagcagc	6	9	12	14	0	2	1	0	0	2	1	5	2	4	2	3	3	4	3	3	3	0	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr15:43827518C>T	ENST00000420765.1	-	31	3838	c.3656G>A	c.(3655-3657)gGg>gAg	p.G1219E	PPIP5K1_ENST00000381885.1_Missense_Mutation_p.G1215E|PPIP5K1_ENST00000360135.4_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000348806.6_Missense_Mutation_p.G1192E|PPIP5K1_ENST00000396923.3_Missense_Mutation_p.G1219E|PPIP5K1_ENST00000381879.4_Missense_Mutation_p.G1195E|PPIP5K1_ENST00000360301.4_Missense_Mutation_p.G1194E|PPIP5K1_ENST00000334933.4_Missense_Mutation_p.G1194E	NM_001130858.2	NP_001124330.1	Q6PFW1	VIP1_HUMAN	diphosphoinositol pentakisphosphate kinase 1	1219					inositol metabolic process	cytosol	acid phosphatase activity|ATP binding|diphosphoinositol-pentakisphosphate kinase activity|inositol 1,3,4,5,6-pentakisphosphate kinase activity|inositol hexakisphosphate 5-kinase activity			large_intestine(1)	1						TGCTCCACTCCCAGGGGTCTC	0.527													T	43827518	C	T	43827518	3	4	757	1	0	0	0	0	1	0	0	0	12414	623	22	2	649	2	PPIP5K1	15	43827518	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		43827518	58703874	13	56756											
ADCY9	115	broad.mit.edu	37	chr16	4016307	4016307	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagcagcttggtggtgccGatgaccccggccgtgagggg	6	7	17	11	3	0	2	0	2	0	0	0	3	0	2	4	5	4	2	4	5	1	2	rs146365616		TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:4016307G>A	ENST00000294016.3	-	11	4069	c.3531C>T	c.(3529-3531)atC>atT	p.I1177I		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	1177	Guanylate cyclase 2.				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						TGGTGGTGCCGATGACCCCGG	0.607													A	4016307	G	A	4016307	2	1	757	1	0	0	0	0	0	0	0	1	301	1048	37	1		1	ADCY9	16	4016307	Silent	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		4016307	86338446	14	56757											
AARS	16	broad.mit.edu	37	chr16	70295033	70295033	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cacataccctcctcggacctGagcattcttcactgtaaact	10	11	5	15	1	2	1	1	1	1	0	4	2	3	2	3	1	3	2	3	1	3	4			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr16:70295033G>C	ENST00000261772.8	-	13	1842	c.1699C>G	c.(1699-1701)Cag>Gag	p.Q567E	AARS_ENST00000564359.1_5'UTR	NM_001605.2	NP_001596.2	P49588	SYAC_HUMAN	alanyl-tRNA synthetase	567					alanyl-tRNA aminoacylation|tRNA processing	cytosol|soluble fraction	alanine-tRNA ligase activity|ATP binding|metal ion binding|tRNA binding			breast(3)|cervix(2)|endometrium(5)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)|prostate(1)	27		Ovarian(137;0.0365)		BRCA - Breast invasive adenocarcinoma(221;0.161)	L-Alanine(DB00160)	CCTCGGACCTGAGCATTCTTC	0.398													C	70295033	G	C	70295033	3	2	757	1	0	0	0	0	1	0	0	0	19	1299	45	4	1243	4	AARS	16	70295033	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08	66278726	70295033	20059720	15	56758											
ZNF18	7566	broad.mit.edu	37	chr17	11881794	11881794	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tggacatttctcctgaatgaGgattaggcaaatgctgacct	11	12	10	8	0	1	3	0	3	1	0	2	5	1	5	2	3	1	2	2	3	3	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:11881794G>T	ENST00000322748.3	-	9	1734	c.1130C>A	c.(1129-1131)cCt>cAt	p.P377H	ZNF18_ENST00000454073.3_Missense_Mutation_p.P376H|ZNF18_ENST00000580306.2_Missense_Mutation_p.P377H	NM_144680.2	NP_653281.2	P17022	ZNF18_HUMAN	zinc finger protein 18	377					viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)	14				Colorectal(4;3.33e-05)|COAD - Colon adenocarcinoma(4;0.000494)|READ - Rectum adenocarcinoma(10;0.233)		TCCTGAATGAGGATTAGGCAA	0.532													T	11881794	G	T	11881794	3	4	757	1	0	0	0	0	1	0	0	0	17848	1000	35	4	523	4	ZNF18	17	11881794	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08		11881794	69313416	16	56759											
MYO19	80179	broad.mit.edu	37	chr17	34862971	34862971	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctgctgggtcgattgaggCggcattcctgtgggatggga	5	10	18	8	3	0	1	0	1	0	0	2	4	1	3	1	5	1	3	1	5	0	2			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:34862971C>T	ENST00000431794.3	-	17	1997	c.1475G>A	c.(1474-1476)cGc>cAc	p.R492H	MYO19_ENST00000268852.9_Intron	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	492	Myosin head-like.					mitochondrial outer membrane|myosin complex	actin binding|ATP binding|motor activity			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		TCGATTGAGGCGGCATTCCTG	0.637													T	34862971	C	T	34862971	3	4	757	1	0	0	0	0	1	0	0	0	10143	768	27	1	1477	1	MYO19	17	34862971	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08	22981177	34862971	46332239	17	56760											
ITGB3	3690	broad.mit.edu	37	chr17	45377877	45377877	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtaagaagtttgaccggggAgccctacatgacgaaaatac	14	8	11	8	2	0	3	0	2	0	1	0	5	0	4	2	2	3	2	2	2	6	4			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr17:45377877A>G	ENST00000560629.1	+	12	1912	c.1912A>G	c.(1912-1914)Agc>Ggc	p.S638G	ITGB3_ENST00000559488.1_Silent_p.G649G|ITGB3_ENST00000435993.2_Silent_p.G602G			P05106	ITB3_HUMAN	integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)	0					activation of protein kinase activity|angiogenesis involved in wound healing|axon guidance|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|leukocyte migration|negative regulation of lipid storage|negative regulation of lipid transport|negative regulation of lipoprotein metabolic process|negative regulation of low-density lipoprotein particle receptor biosynthetic process|negative regulation of macrophage derived foam cell differentiation|platelet activation|platelet degranulation|positive regulation of endothelial cell migration|positive regulation of endothelial cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway|regulation of bone resorption|smooth muscle cell migration|tube development	alphav-beta3 integrin-vitronectin complex|integrin complex|platelet alpha granule membrane	cell adhesion molecule binding|identical protein binding|platelet-derived growth factor receptor binding|receptor activity|vascular endothelial growth factor receptor 2 binding			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	39					Abciximab(DB00054)|Tirofiban(DB00775)	TTGACCGGGGAGCCCTACATG	0.483													G	45377877	A	G	45377877	3	3	757	1	0	0	0	0	1	0	0	0	7953	291	11	3	1993	3	ITGB3	17	45377877	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08	10514906	45377877	35817333	18	56761											
FKBP8	23770	broad.mit.edu	37	chr19	18652528	18652528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctggggccggggctggggCgggctcgggctccatggcag	2	7	21	11	3	1	0	0	0	1	0	3	0	2	0	2	9	0	4	2	9	0	1			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:18652528C>T	ENST00000608443.1	-	2	452	c.253G>A	c.(253-255)Gcc>Acc	p.A85T	FKBP8_ENST00000453489.2_Missense_Mutation_p.A114T|FKBP8_ENST00000222308.4_Missense_Mutation_p.A85T|FKBP8_ENST00000596558.2_Missense_Mutation_p.A85T|FKBP8_ENST00000610101.1_Missense_Mutation_p.A85T|FKBP8_ENST00000597960.3_Missense_Mutation_p.A85T			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa		Glu-rich.				apoptosis|interspecies interaction between organisms|intracellular signal transduction|protein folding	integral to endoplasmic reticulum membrane|mitochondrial membrane	FK506 binding|peptidyl-prolyl cis-trans isomerase activity|protein binding			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						GGGGCTGGGGCGGGCTCGGGC	0.692													T	18652528	C	T	18652528	3	4	757	1	0	0	0	0	1	0	0	0	5963	768	27	1	1020	1	FKBP8	19	18652528	Missense_Mutation	SNP	C	TCGA-TM-A84S-01A-11D-A36O-08		18652528	40476455	19	56762											
ZNF577	84765	broad.mit.edu	37	chr19	52375975	52375975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cactcttgtttaacaatggcGgggttcctgaggaaggcatt	9	12	12	8	1	1	1	0	1	1	0	2	2	2	2	1	5	1	3	1	5	3	5			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr19:52375975G>A	ENST00000420592.1	-	6	2424	c.1091C>T	c.(1090-1092)cCg>cTg	p.P364L	ZNF577_ENST00000485702.1_Intron|ZNF577_ENST00000412216.1_Intron|ZNF577_ENST00000451628.2_Missense_Mutation_p.P364L|ZNF577_ENST00000301399.5_Missense_Mutation_p.P423L			Q9BSK1	ZN577_HUMAN	zinc finger protein 577	423					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P416Q(1)		breast(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.019)		TAACAATGGCGGGGTTCCTGA	0.428													A	52375975	G	A	52375975	3	1	757	1	0	0	0	0	1	0	0	0	18110	1116	39	1	193	1	ZNF577	19	52375975	Missense_Mutation	SNP	G	TCGA-TM-A84S-01A-11D-A36O-08	33723447	52375975	6753008	20	56763											
GRAP2	9402	broad.mit.edu	37	chr22	40343126	40343126	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatggaagctgttgccAagtttgatttcactgcttca	10	13	9	9	0	2	1	2	1	0	0	2	2	2	2	1	1	4	5	1	1	2	4			TCGA-TM-A84S-01A-11D-A36O-08	TCGA-TM-A84S-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	04900639-99a7-4c20-944b-77fab59a174a	59753c32-0a08-46aa-94cc-cc88d0455862	g.chr22:40343126A>G	ENST00000344138.4	+	2	279	c.16A>G	c.(16-18)Aag>Gag	p.K6E	GRAP2_ENST00000407075.3_Missense_Mutation_p.K6E|GRAP2_ENST00000399090.2_Intron|GRAP2_ENST00000544756.1_5'UTR|GRAP2_ENST00000540310.1_Intron|GRAP2_ENST00000543252.1_Missense_Mutation_p.K6E|GRAP2_ENST00000478445.1_Intron	NM_004810.2	NP_004801.1	O75791	GRAP2_HUMAN	GRB2-related adaptor protein 2	6	SH3 1.				cell-cell signaling|Ras protein signal transduction|T cell costimulation|T cell receptor signaling pathway	cytosol	SH3/SH2 adaptor activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	14						AGCTGTTGCCAAGTTTGATTT	0.527													G	40343126	A	G	40343126	3	3	757	1	0	0	0	0	1	0	0	0	6809	131	5	3	18	3	GRAP2	22	40343126	Missense_Mutation	SNP	A	TCGA-TM-A84S-01A-11D-A36O-08		40343126	10961440	21	56764											
SDCCAG8	10806	broad.mit.edu	37	chr1	243480092	243480092	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatgtctgcactagtttccgTaaggagcagcttggcagata	10	11	12	8	1	1	1	0	0	1	1	2	3	2	2	1	2	3	6	1	2	3	5			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:243480092T>G	ENST00000366541.3	+	9	1083	c.965T>G	c.(964-966)gTa>gGa	p.V322G	SDCCAG8_ENST00000343783.6_Missense_Mutation_p.V177G|SDCCAG8_ENST00000355875.4_Missense_Mutation_p.V279G|SDCCAG8_ENST00000391846.1_Missense_Mutation_p.V322G	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8	322	Sufficient for homodimerization (By similarity).				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		CTAGTTTCCGTAAGGAGCAGC	0.403													G	243480092	T	G	243480092	3	3	758	1	0	0	0	0	1	0	0	0	14052	1638	57	5	999	5	SDCCAG8	1	243480092	Missense_Mutation	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		243480092	5770529	1	56765											
OR2C3	81472	broad.mit.edu	37	chr1	247695157	247695157	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggcccgggcaatgtggccGtaagagaccaggatgagccc	10	4	15	12	3	0	2	0	1	0	1	0	4	0	3	4	4	1	2	4	4	2	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr1:247695157G>A	ENST00000366487.3	-	2	1018	c.657C>T	c.(655-657)taC>taT	p.Y219Y	GCSAML_ENST00000531662.1_Intron|GCSAML_ENST00000463359.1_Intron|GCSAML_ENST00000366489.1_Intron|GCSAML_ENST00000366490.3_Intron|GCSAML_ENST00000527541.1_Intron|GCSAML_ENST00000366491.2_Intron|GCSAML_ENST00000527084.1_Intron	NM_198074.4	NP_932340	Q8N628	OR2C3_HUMAN	olfactory receptor, family 2, subfamily C, member 3	219					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(5)|large_intestine(2)|lung(31)|ovary(1)|prostate(1)|skin(2)	43	all_cancers(71;4.51e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0242)	OV - Ovarian serous cystadenocarcinoma(106;0.0241)			CAATGTGGCCGTAAGAGACCA	0.542													A	247695157	G	A	247695157	2	1	758	1	0	0	0	0	0	0	0	1	11069	1140	40	1		1	OR2C3	1	247695157	Silent	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	4215065	247695157	1555464	2	56766											
SLC8A1	6546	broad.mit.edu	37	chr2	40656574	40656574	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	aatttcagtcttagaagatgGcctgtctccttcatgttcaa	10	15	7	9	0	5	2	3	0	2	2	6	2	5	2	2	1	0	1	2	1	4	4			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:40656574G>C	ENST00000406785.2	-	2	1036	c.847C>G	c.(847-849)Cca>Gca	p.P283A	SLC8A1_ENST00000406391.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000405269.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000542024.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000408028.2_Missense_Mutation_p.P283A|SLC8A1_ENST00000332839.4_Missense_Mutation_p.P283A|SLC8A1_ENST00000542756.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000405901.3_Missense_Mutation_p.P283A|SLC8A1_ENST00000403092.1_Missense_Mutation_p.P283A|SLC8A1_ENST00000402441.1_Missense_Mutation_p.P283A			P32418	NAC1_HUMAN	solute carrier family 8 (sodium/calcium exchanger), member 1						cell communication|muscle contraction|platelet activation	integral to plasma membrane	calcium:sodium antiporter activity|calmodulin binding|heat shock protein binding			NS(1)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(14)|liver(1)|lung(57)|ovary(2)|pancreas(1)|skin(7)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)	100					Alpha-Linolenic Acid(DB00132)|Icosapent(DB00159)	TTAGAAGATGGCCTGTCTCCT	0.443													C	40656574	G	C	40656574	3	2	758	1	0	0	0	0	1	0	0	0	14800	1203	42	4	2222	4	SLC8A1	2	40656574	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		40656574	202542799	3	56767											
SGOL2	151246	broad.mit.edu	37	chr2	201435848	201435848	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaacgcccagtctattggccGcagatgggagaaaccatctc	12	7	10	12	2	2	2	0	0	2	2	3	3	2	2	3	2	2	1	3	2	3	2			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201435848G>A	ENST00000357799.4	+	7	877	c.779G>A	c.(778-780)cGc>cAc	p.R260H		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	260					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						TCTATTGGCCGCAGATGGGAG	0.428													A	201435848	G	A	201435848	3	1	758	1	0	0	0	0	1	0	0	0	14310	1087	38	1	801	1	SGOL2	2	201435848	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	160779274	201435848	41763525	4	56768											
SGOL2	151246	broad.mit.edu	37	chr2	201437991	201437991	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaaaaggaaagttgtgaTcaaattttagattcctacaa	18	12	7	4	0	1	3	1	2	0	1	2	4	2	4	1	1	1	1	1	1	8	5			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:201437991T>C	ENST00000357799.4	+	7	3020	c.2922T>C	c.(2920-2922)gaT>gaC	p.D974D		NM_001160033.1|NM_001160046.1|NM_152524.5	NP_001153505.1|NP_001153518.1|NP_689737.4	Q562F6	SGOL2_HUMAN	shugoshin-like 2 (S. pombe)	974					cell division|mitotic prometaphase	condensed chromosome kinetochore|cytosol|mitotic cohesin complex	protein binding			NS(2)|breast(2)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	46						AAAGTTGTGATCAAATTTTAG	0.284													C	201437991	T	C	201437991	2	2	758	1	0	0	0	0	0	0	0	1	14310	1432	50	3		3	SGOL2	2	201437991	Silent	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08	2143	201437991	41761382	5	56769											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	758	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08	7675121	209113112	34086261	6	56770											
SKIL	6498	broad.mit.edu	37	chr3	170078468	170078468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcattcccaagaaagcatgTcgcctactgtatttctgcct	9	12	8	12	1	1	1	0	0	1	1	3	1	2	1	3	1	3	3	3	1	4	4			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr3:170078468T>C	ENST00000458537.3	+	1	1058	c.349T>C	c.(349-351)Tcg>Ccg	p.S117P	SKIL_ENST00000413427.2_Missense_Mutation_p.S117P|SKIL_ENST00000259119.4_Missense_Mutation_p.S117P|SKIL_ENST00000426052.2_Missense_Mutation_p.S97P	NM_001145097.2|NM_001248008.1|NM_005414.4	NP_001138569.1|NP_001234937.1|NP_005405.2	P12757	SKIL_HUMAN	SKI-like oncogene	117					cell cycle arrest|negative regulation of cell differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of axonogenesis|protein heterotrimerization|protein homotrimerization|regulation of apoptosis|response to antibiotic|response to growth factor stimulus|skeletal muscle tissue development	cytoplasm|PML body	chromatin binding|nucleotide binding|protein complex binding|protein domain specific binding|SMAD binding|transcription corepressor activity|transcription repressor activity			cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	25	all_cancers(22;7.13e-23)|all_epithelial(15;9.95e-28)|all_lung(20;1.23e-16)|Lung NSC(18;5.15e-16)|Ovarian(172;0.000337)|Breast(254;0.137)		Lung(28;2.71e-13)|STAD - Stomach adenocarcinoma(35;0.197)			AGAAAGCATGTCGCCTACTGT	0.493													C	170078468	T	C	170078468	3	2	758	1	0	0	0	0	1	0	0	0	14452	1667	58	3	351	3	SKIL	3	170078468	Missense_Mutation	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		170078468	27943962	7	56771											
FAT1	2195	broad.mit.edu	37	chr4	187524178	187524178	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagccatggtggacaggtggGcaccttccctcttcattcaa	8	10	10	13	0	3	0	2	0	1	0	4	1	4	1	3	4	1	1	3	4	1	3			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr4:187524178G>C	ENST00000441802.2	-	20	11570	c.11361C>G	c.(11359-11361)tgC>tgG	p.C3787W		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	3787					actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GGACAGGTGGGCACCTTCCCT	0.488										HNSCC(5;0.00058)			C	187524178	G	C	187524178	3	2	758	1	0	0	0	0	1	0	0	0	5738	1195	42	4	2437	4	FAT1	4	187524178	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		187524178	3630098	8	56772											
MAP1B	4131	broad.mit.edu	37	chr5	71493288	71493288	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttttgaattcagtgatgccaAagatgagaatgaaagggctt	14	12	11	4	0	1	5	1	4	0	2	1	6	1	5	1	1	1	1	1	1	4	4			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr5:71493288A>G	ENST00000296755.7	+	5	4404	c.4106A>G	c.(4105-4107)aAa>aGa	p.K1369R		NM_005909.3	NP_005900.2	P46821	MAP1B_HUMAN	microtubule-associated protein 1B	1369						microtubule|microtubule associated complex	structural molecule activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(42)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	104		Lung NSC(167;0.00202)|Ovarian(174;0.0175)|Prostate(461;0.142)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;7.99e-54)		AGTGATGCCAAAGATGAGAAT	0.463													G	71493288	A	G	71493288	3	3	758	1	0	0	0	0	1	0	0	0	9303	14	1	3	4124	3	MAP1B	5	71493288	Missense_Mutation	SNP	A	TCGA-TM-A84T-01A-11D-A36O-08		71493288	109421972	9	56773											
ANLN	54443	broad.mit.edu	37	chr7	36462337	36462337	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtccccaaagtgaatttatgCcatccaaaggatcagttact	13	11	7	10	0	1	1	1	1	0	0	3	2	3	2	4	1	2	1	4	1	5	3			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:36462337C>T	ENST00000265748.2	+	14	2616	c.2395C>T	c.(2395-2397)Cca>Tca	p.P799S	ANLN_ENST00000396068.2_Missense_Mutation_p.P762S	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	799	Localization to the cleavage furrow.				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TGAATTTATGCCATCCAAAGG	0.403													T	36462337	C	T	36462337	3	4	758	1	0	0	0	0	1	0	0	0	694	739	26	2	2449	2	ANLN	7	36462337	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		36462337	122676326	10	56774											
GALNT11	63917	broad.mit.edu	37	chr7	151791479	151791479	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatctccaaaaaaattctAtccccgtttcactcgaggcc	12	10	4	15	2	3	0	1	0	2	0	6	1	4	0	5	1	0	1	5	1	4	3			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr7:151791479A>G	ENST00000434507.1	+	4	604	c.167A>G	c.(166-168)tAt>tGt	p.Y56C	GALNT11_ENST00000422997.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000430044.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000320311.2_Missense_Mutation_p.Y56C|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000452146.2_Intron|GALNT11_ENST00000415421.1_Missense_Mutation_p.Y56C			Q8NCW6	GLT11_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)	56						Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		AAAAAATTCTATCCCCGTTTC	0.463													G	151791479	A	G	151791479	3	3	758	1	0	0	0	0	1	0	0	0	6263	449	16	3	169	3	GALNT11	7	151791479	Missense_Mutation	SNP	A	TCGA-TM-A84T-01A-11D-A36O-08	115329142	151791479	7347184	11	56775											
NUP188	23511	broad.mit.edu	37	chr9	131747270	131747270	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggttactattgcctttctgCgcttgatcaccacccttgtc	5	15	8	13	1	2	1	1	1	1	0	3	1	2	1	3	1	3	2	3	1	2	6			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr9:131747270C>T	ENST00000372577.2	+	20	2074	c.2053C>T	c.(2053-2055)Cgc>Tgc	p.R685C		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	685					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TGCCTTTCTGCGCTTGATCAC	0.468											OREG0003924	type=REGULATORY REGION|Gene=NUP188|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	T	131747270	C	T	131747270	3	4	758	1	0	0	0	0	1	0	0	0	10834	768	27	1	2131	1	NUP188	9	131747270	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		131747270	9466161	12	56776											
KIAA1217	56243	broad.mit.edu	37	chr10	24813550	24813550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgtggccagctccccagccGtcccccaggaagcaacctcc	8	4	9	20	2	0	0	0	0	0	0	3	1	3	1	8	2	4	2	8	2	2	0	rs151027148		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr10:24813550G>A	ENST00000376451.2	+	8	2064	c.1804G>A	c.(1804-1806)Gtc>Atc	p.V602I	KIAA1217_ENST00000376454.3_Missense_Mutation_p.V919I|KIAA1217_ENST00000396445.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000396446.1_Missense_Mutation_p.V602I|KIAA1217_ENST00000307544.6_Missense_Mutation_p.V602I|KIAA1217_ENST00000430453.2_Intron|KIAA1217_ENST00000376462.1_Missense_Mutation_p.V839I|KIAA1217_ENST00000458595.1_Missense_Mutation_p.V884I|KIAA1217_ENST00000376452.3_Missense_Mutation_p.V884I			Q5T5P2	SKT_HUMAN	KIAA1217	919					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						CTCCCCAGCCGTCCCCCAGGA	0.622													A	24813550	G	A	24813550	3	1	758	1	0	0	0	0	1	0	0	0	8274	1145	40	1	2805	1	KIAA1217	10	24813550	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		24813550	110721197	13	56777											
TGM5	9333	broad.mit.edu	37	chr15	43545071	43545071	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccactccgcagggttggCgccgtctgtgtaattctcac	5	11	11	14	4	2	0	1	0	2	0	5	0	4	0	3	2	0	3	3	2	1	3	rs113766373		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr15:43545071C>T	ENST00000220420.5	-	6	755	c.748G>A	c.(748-750)Gcc>Acc	p.A250T	TGM5_ENST00000349114.4_Missense_Mutation_p.A168T	NM_201631.3	NP_963925.2	O43548	TGM5_HUMAN	transglutaminase 5	250					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)	GCAGGGTTGGCGCCGTCTGTG	0.547													T	43545071	C	T	43545071	3	4	758	1	0	0	0	0	1	0	0	0	15933	768	27	1	1446	1	TGM5	15	43545071	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		43545071	58986321	14	56778											
NPRL3	8131	broad.mit.edu	37	chr16	138697	138697	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acgggtcaacctacacccacCtggcaaacatgcggaggtcc	11	5	10	15	2	1	0	1	0	0	0	2	1	2	1	4	4	4	1	4	4	3	1			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:138697C>G	ENST00000399953.3	-	13	1943	c.1541G>C	c.(1540-1542)aGg>aCg	p.R514T	NPRL3_ENST00000405960.3_5'UTR|NPRL3_ENST00000399951.3_Splice_Site_p.R335T	NM_001077350.2|NM_001243247.1|NM_001243248.1|NM_001243249.1	NP_001070818.1|NP_001230176.1|NP_001230177.1|NP_001230178.1	Q12980	NPRL3_HUMAN	nitrogen permease regulator-like 3 (S. cerevisiae)	515							protein binding			endometrium(1)|large_intestine(3)|ovary(2)	6						CTACACCCACCTGGCAAACAT	0.597													G	138697	C	G	138697	5	3	758	1	0	0	0	0	0	0	1	0	10674	695	24	4	173	4	NPRL3	16	138697	Splice_Site	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		138697	90216056	15	56779											
SRRM2	23524	broad.mit.edu	37	chr16	2820625	2820625	+	Frame_Shift_Del	DEL	C	C	-																															cagcagcagtgagcggggttCccggagaggccagcgtgggg																										TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:2820625delC	ENST00000301740.8	+	14	8705	c.8156delC	c.(8155-8157)tccfs	p.S2719fs		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2719	Arg-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						GAGCGGGGTTCCCGGAGAGGC	0.647													-	2820625	C	-	2820625	7	5	758	1	0	1	0	1	0	0	0	0	15265	855	30	0	8206	0	SRRM2	16	2820625	Frame_Shift_Del	DEL	C	TCGA-TM-A84T-01A-11D-A36O-08	2681928	2820625	87534128	16	56780											
THUMPD1	55623	broad.mit.edu	37	chr16	20748258	20748258	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgtggcttgacttgcaagttCaggtttggctcctccctcat	5	15	10	11	0	2	1	2	1	0	0	4	1	4	1	2	3	1	5	2	3	1	4			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr16:20748258C>G	ENST00000381337.2	-	4	1350	c.1006G>C	c.(1006-1008)Gaa>Caa	p.E336Q	THUMPD1_ENST00000431224.2_Missense_Mutation_p.E422Q|THUMPD1_ENST00000396083.2_Missense_Mutation_p.E336Q	NM_017736.3	NP_060206.2	Q9NXG2	THUM1_HUMAN	THUMP domain containing 1	336										NS(2)|large_intestine(2)|lung(6)|pancreas(1)|urinary_tract(1)	12						CTTGCAAGTTCAGGTTTGGCT	0.468													G	20748258	C	G	20748258	3	3	758	1	0	0	0	0	1	0	0	0	15982	835	29	4	59	4	THUMPD1	16	20748258	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08	17927633	20748258	69606495	17	56781											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	758	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		7577121	73618089	18	56782											
KRT27	342574	broad.mit.edu	37	chr17	38933340	38933340	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggatgagagaactttgccacGaggatctatctcttcaacaa	13	10	9	9	1	3	2	1	1	2	1	4	6	3	4	1	2	3	0	1	2	4	3			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr17:38933340G>A	ENST00000301656.3	-	8	1331	c.1291C>T	c.(1291-1293)Cgt>Tgt	p.R431C	KRT27_ENST00000540723.1_5'UTR	NM_181537.3	NP_853515.2	Q7Z3Y8	K1C27_HUMAN	keratin 27	431	Tail.					cytoplasm|intermediate filament	structural molecule activity			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(3)|skin(1)|stomach(1)	21		Breast(137;0.000812)				ACTTTGCCACGAGGATCTATC	0.383													A	38933340	G	A	38933340	3	1	758	1	0	0	0	0	1	0	0	0	8522	1058	37	1	92	1	KRT27	17	38933340	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	31356219	38933340	42261870	19	56783											
ZNF667	63934	broad.mit.edu	37	chr19	56953812	56953812	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgatgaagtaggatggatgaGatctgtctgaaagcttttct	11	14	12	4	0	3	4	0	4	3	1	3	7	3	6	0	2	1	2	0	2	3	3			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr19:56953812G>C	ENST00000504904.3	-	7	1271	c.552C>G	c.(550-552)atC>atG	p.I184M	ZNF667_ENST00000591790.1_3'UTR|ZNF667_ENST00000342634.3_Missense_Mutation_p.I312M|ZNF667_ENST00000292069.6_Missense_Mutation_p.I184M			Q5HYK9	ZN667_HUMAN	zinc finger protein 667	184					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(18)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	38		Colorectal(82;0.000256)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0615)		GGATGGATGAGATCTGTCTGA	0.373													C	56953812	G	C	56953812	3	2	758	1	0	0	0	0	1	0	0	0	18175	932	33	4	1284	4	ZNF667	19	56953812	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08		56953812	2175171	20	56784											
ZNF335	63925	broad.mit.edu	37	chr20	44577646	44577646	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atgccctggtgctgcagctgTtgaatgtgttcgggcactgt	5	13	14	9	1	0	1	0	1	0	0	1	1	0	1	1	2	4	6	1	2	1	2			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr20:44577646T>C	ENST00000322927.2	-	28	4075	c.3975A>G	c.(3973-3975)caA>caG	p.Q1325Q	ZNF335_ENST00000426788.1_Silent_p.Q1170Q	NM_022095.3	NP_071378.1	Q9H4Z2	ZN335_HUMAN	zinc finger protein 335	1325	Gln-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(13)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	51		Myeloproliferative disorder(115;0.0122)				GCTGCAGCTGTTGAATGTGTT	0.602													C	44577646	T	C	44577646	2	2	758	1	0	0	0	0	0	0	0	1	17953	1722	60	3		3	ZNF335	20	44577646	Silent	SNP	T	TCGA-TM-A84T-01A-11D-A36O-08		44577646	18447874	21	56785											
TIAM1	7074	broad.mit.edu	37	chr21	32638783	32638783	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatgtctgcagatttggagCgtttcttcttaaagctcgcc	8	14	10	9	2	3	2	0	0	3	2	4	3	3	3	1	1	3	3	1	1	2	4			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chr21:32638783C>T	ENST00000286827.3	-	5	977	c.506G>A	c.(505-507)cGc>cAc	p.R169H	TIAM1_ENST00000541036.1_Missense_Mutation_p.R169H|TIAM1_ENST00000469412.1_Intron	NM_003253.2	NP_003244.2	Q13009	TIAM1_HUMAN	T-cell lymphoma invasion and metastasis 1	169					apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cell-cell junction|cytosol	receptor signaling protein activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(3)|breast(7)|central_nervous_system(2)|endometrium(13)|kidney(4)|large_intestine(33)|lung(44)|ovary(2)|prostate(3)|skin(2)|urinary_tract(2)	115						AGATTTGGAGCGTTTCTTCTT	0.502													T	32638783	C	T	32638783	3	4	758	1	0	0	0	0	1	0	0	0	15990	768	27	1	4369	1	TIAM1	21	32638783	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		32638783	15491112	22	56786											
HCCS	3052	broad.mit.edu	37	chrX	11139866	11139866	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcctggacgtccgtcctgCcttagattcactttcggcag	6	12	9	14	3	1	1	1	0	0	1	5	2	4	2	4	2	1	1	4	2	1	3			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:11139866C>T	ENST00000321143.4	+	7	945	c.743C>T	c.(742-744)gCc>gTc	p.A248V	HCCS_ENST00000380762.4_Missense_Mutation_p.A248V|HCCS_ENST00000380763.3_Missense_Mutation_p.A248V|ARHGAP6_ENST00000534860.1_Intron	NM_001122608.2|NM_001171991.2|NM_005333.4	NP_001116080.1|NP_001165462.1|NP_005324.3	P53701	CCHL_HUMAN	holocytochrome c synthase	248					organ morphogenesis|oxidation-reduction process	mitochondrial inner membrane	holocytochrome-c synthase activity|metal ion binding			kidney(1)|large_intestine(3)|lung(3)	7						GTCCGTCCTGCCTTAGATTCA	0.428													T	11139866	C	T	11139866	3	4	758	1	0	0	0	0	1	0	0	0	7045	739	26	2	765	2	HCCS	23	11139866	Missense_Mutation	SNP	C	TCGA-TM-A84T-01A-11D-A36O-08		11139866	144130694	23	56787											
TLR7	51284	broad.mit.edu	37	chrX	12905884	12905884	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	ccttccagttgcgatatctgGatctcagctcaaataaaatc	12	12	6	11	1	3	0	2	0	2	0	6	2	4	1	2	1	2	2	2	1	4	4			TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:12905884G>C	ENST00000380659.3	+	3	2396	c.2257G>C	c.(2257-2259)Gat>Cat	p.D753H		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	753					cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Imiquimod(DB00724)	GCGATATCTGGATCTCAGCTC	0.388													C	12905884	G	C	12905884	3	2	758	1	0	0	0	0	1	0	0	0	16056	1174	41	4	2263	4	TLR7	23	12905884	Missense_Mutation	SNP	G	TCGA-TM-A84T-01A-11D-A36O-08	1766018	12905884	142364676	24	56788											
ATRX	546	broad.mit.edu	37	chrX	76937603	76937603	+	Frame_Shift_Del	DEL	T	T	-																															tttagaagttttatctcttaTttttttacttttcttttctc																										TCGA-TM-A84T-01A-11D-A36O-08	TCGA-TM-A84T-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d4017d95-80c7-4796-9a47-3d519313d062	ab62f550-4bee-40f4-8e36-2e683282cebf	g.chrX:76937603delT	ENST00000373344.5	-	9	3359	c.3145delA	c.(3145-3147)atafs	p.I1049fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.I1011fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1049					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)	TTATCTCTTATTTTTTTACTT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937603	T	-	76937603	7	5	758	1	0	1	0	1	0	0	0	0	1213	1493	52	0	4441	0	ATRX	23	76937603	Frame_Shift_Del	DEL	T	TCGA-TM-A84T-01A-11D-A36O-08	64031719	76937603	78332957	25	56789											
RER1	11079	broad.mit.edu	37	chr1	2334543	2334543	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acagaggcaaggaggatgccGgcaaggccttcgccagctag	11	4	15	11	2	0	1	0	0	0	1	1	3	0	3	3	5	2	3	3	5	3	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:2334543G>A	ENST00000605895.1	+	7	704	c.571G>A	c.(571-573)Ggc>Agc	p.G191S	RER1_ENST00000378512.1_3'UTR|RER1_ENST00000378513.3_3'UTR|RER1_ENST00000488353.1_Missense_Mutation_p.G191S	NM_007033.4	NP_008964.3	O15258	RER1_HUMAN	retention in endoplasmic reticulum sorting receptor 1	191				HAATKGILVAMVCTFFDAFNVPVFWPILVMYFIMLFCITMK RQIKHMIKYRYIPFTHGKRRYRGKEDAGKAFAS -> DASV CGDGRCSCKAGGGRQCPVLAADAALTFSPHLKACGYQGHPC GYGLYFLRRFQRPGVLADSGDVLHHALLYHDEEANQAHD (in Ref. 2; AAC72940).	retrograde vesicle-mediated transport, Golgi to ER	integral to Golgi membrane				endometrium(3)|kidney(1)	4	all_cancers(77;0.000247)|all_epithelial(69;9.96e-05)|all_lung(157;0.016)|Lung NSC(156;0.0376)|Ovarian(185;0.0634)	all_epithelial(116;5.35e-20)|all_lung(118;2.78e-08)|Lung NSC(185;2.69e-06)|Breast(487;0.00147)|Renal(390;0.00183)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.28e-37)|OV - Ovarian serous cystadenocarcinoma(86;8.29e-23)|GBM - Glioblastoma multiforme(42;4.71e-08)|Colorectal(212;4.73e-05)|COAD - Colon adenocarcinoma(227;0.00021)|Kidney(185;0.00116)|BRCA - Breast invasive adenocarcinoma(365;0.00459)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0182)|Lung(427;0.204)		GGAGGATGCCGGCAAGGCCTT	0.498													A	2334543	G	A	2334543	3	1	759	1	0	0	0	0	1	0	0	0	13318	1116	39	1	593	1	RER1	1	2334543	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		2334543	246916078	1	56790											
CELA3A	10136	broad.mit.edu	37	chr1	22336270	22336270	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tccacggtgtgaccagctttGtttctgcctttggctgcaac	5	14	10	12	1	1	1	0	1	1	0	2	1	2	1	3	2	4	4	3	2	1	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:22336270G>C	ENST00000290122.3	+	7	734	c.715G>C	c.(715-717)Gtt>Ctt	p.V239L		NM_005747.4	NP_005738.4			chymotrypsin-like elastase family, member 3A											endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						GACCAGCTTTGTTTCTGCCTT	0.612													C	22336270	G	C	22336270	3	2	759	1	0	0	0	0	1	0	0	0	3243	1377	48	4	741	4	CELA3A	1	22336270	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	20001727	22336270	226914351	2	56791											
ZZZ3	26009	broad.mit.edu	37	chr1	78098001	78098001	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttcaggttctccggaggctgGcatactctcaagacttgtgt	7	13	11	10	1	3	1	2	0	2	1	5	2	3	2	1	4	1	3	1	4	2	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:78098001G>A	ENST00000370801.3	-	5	1514	c.1039C>T	c.(1039-1041)Cca>Tca	p.P347S	ZZZ3_ENST00000476275.1_5'UTR|ZZZ3_ENST00000370798.1_Intron	NM_015534.4	NP_056349.1	Q8IYH5	ZZZ3_HUMAN	zinc finger, ZZ-type containing 3	347					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.P347S(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|prostate(1)|stomach(1)|urinary_tract(2)	39						CCGGAGGCTGGCATACTCTCA	0.443													A	78098001	G	A	78098001	3	1	759	1	0	0	0	0	1	0	0	0	18353	1203	42	2	1716	2	ZZZ3	1	78098001	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	55761731	78098001	171152620	3	56792											
SLC16A1	6566	broad.mit.edu	37	chr1	113460447	113460447	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcccgattggtcgcatgAgggctccagcaacacagcag	9	6	14	12	2	0	1	0	1	0	0	2	2	1	1	2	3	3	4	2	3	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:113460447A>G	ENST00000538576.1	-	4	1412	c.581T>C	c.(580-582)cTc>cCc	p.L194P	SLC16A1_ENST00000369626.3_Missense_Mutation_p.L194P|SLC16A1_ENST00000433570.4_Missense_Mutation_p.L194P	NM_001166496.1	NP_001159968.1	P53985	MOT1_HUMAN	solute carrier family 16 (monocarboxylate transporter), member 1	194					blood coagulation|leukocyte migration|organic anion transport|pyruvate metabolic process	integral to membrane|membrane fraction|plasma membrane	mevalonate transmembrane transporter activity|protein binding|secondary active monocarboxylate transmembrane transporter activity|symporter activity			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|urinary_tract(1)	20	Lung SC(450;0.246)	all_cancers(81;7.6e-08)|all_epithelial(167;3.82e-07)|all_lung(203;3.07e-05)|Lung NSC(69;5.51e-05)|Prostate(1639;0.00232)		Epithelial(280;7.31e-13)|all cancers(265;5.1e-10)|Kidney(133;5.29e-07)|KIRC - Kidney renal clear cell carcinoma(1967;8.63e-06)|OV - Ovarian serous cystadenocarcinoma(397;1.48e-05)|BRCA - Breast invasive adenocarcinoma(282;0.003)|LUSC - Lung squamous cell carcinoma(189;0.008)|Lung(183;0.00948)|Colorectal(144;0.0325)|COAD - Colon adenocarcinoma(174;0.0643)	Pyruvic acid(DB00119)	TGGTCGCATGAGGGCTCCAGC	0.488													G	113460447	A	G	113460447	3	3	759	1	0	0	0	0	1	0	0	0	14496	304	11	3	929	3	SLC16A1	1	113460447	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	35362446	113460447	135790174	4	56793											
FLG2	388698	broad.mit.edu	37	chr1	152324784	152324784	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgagatccagcctggccGtgagtgtgtcctcgtgagtg	5	12	15	9	2	0	3	0	3	0	1	3	4	2	3	4	1	1	1	4	1	0	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:152324784G>A	ENST00000388718.5	-	3	5550	c.5478C>T	c.(5476-5478)caC>caT	p.H1826H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1826							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CAGCCTGGCCGTGAGTGTGTC	0.512													A	152324784	G	A	152324784	2	1	759	1	0	0	0	0	0	0	0	1	5972	1136	40	1		1	FLG2	1	152324784	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	38864337	152324784	96925837	5	56794											
MSTO1	55154	broad.mit.edu	37	chr1	155582849	155582849	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catctctttaggtggtgacaGcaggagcaatcatccctttc	9	12	9	11	0	2	1	1	1	1	0	5	2	3	2	1	3	2	2	1	3	2	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:155582849G>T	ENST00000245564.2	+	11	1132	c.1108G>T	c.(1108-1110)Gca>Tca	p.A370S	MSTO1_ENST00000483734.1_3'UTR|MSTO1_ENST00000368341.4_Missense_Mutation_p.A335S|MSTO1_ENST00000538143.1_Intron|MSTO1_ENST00000452804.2_Intron	NM_001256532.1|NM_001256533.1|NM_018116.3	NP_001243461.1|NP_001243462.1|NP_060586.2	Q9BUK6	MSTO1_HUMAN	misato 1, mitochondrial distribution and morphology regulator	370					mitochondrion distribution|protein polymerization	mitochondrial outer membrane|protein complex				breast(2)|endometrium(1)|lung(3)|skin(1)	7	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)					GGTGGTGACAGCAGGAGCAAT	0.517													T	155582849	G	T	155582849	3	4	759	1	0	0	0	0	1	0	0	0	9970	971	34	4	1150	4	MSTO1	1	155582849	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	3258065	155582849	93667772	6	56795											
PRG4	10216	broad.mit.edu	37	chr1	186277784	186277784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caaaattactactcttaaaaCaactactcttgcacccaaag	17	10	2	12	0	2	0	0	0	2	0	2	0	2	0	1	0	6	1	1	0	9	5			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr1:186277784C>T	ENST00000445192.2	+	7	2978	c.2933C>T	c.(2932-2934)aCa>aTa	p.T978I	PRG4_ENST00000367485.4_Missense_Mutation_p.T885I|PRG4_ENST00000367483.4_Missense_Mutation_p.T937I|PRG4_ENST00000367486.3_Missense_Mutation_p.T935I|PRG4_ENST00000367484.3_Missense_Mutation_p.T507I	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	978					cell proliferation|immune response	extracellular region	polysaccharide binding|protein binding|scavenger receptor activity			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						ACTCTTAAAACAACTACTCTT	0.353													T	186277784	C	T	186277784	3	4	759	1	0	0	0	0	1	0	0	0	12567	478	17	2	2955	2	PRG4	1	186277784	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	30694935	186277784	62972837	7	56796											
RGPD3	653489	broad.mit.edu	37	chr2	107040253	107040253	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcagtatacgaacgtgcttAttatcataattctgtaaaat	15	15	5	6	2	3	0	2	0	1	0	3	1	3	0	0	0	3	3	0	0	8	7			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:107040253A>G	ENST00000409886.3	-	20	4257	c.4170T>C	c.(4168-4170)aaT>aaC	p.N1390N	RGPD3_ENST00000304514.7_Silent_p.N1390N	NM_001144013.1	NP_001137485.1	A6NKT7	RGPD3_HUMAN	RANBP2-like and GRIP domain containing 3	1390	RanBD1 2.				intracellular transport		binding			breast(2)|central_nervous_system(1)|endometrium(50)|kidney(4)|lung(11)|ovary(1)|urinary_tract(2)	71						GAACGTGCTTATTATCATAAT	0.353													G	107040253	A	G	107040253	2	3	759	1	0	0	0	0	0	0	0	1	13375	446	16	3		3	RGPD3	2	107040253	Silent	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		107040253	136159120	8	56797											
DFNB59	494513	broad.mit.edu	37	chr2	179319178	179319178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctggatcagattccattGcagtgaaagcttcatttggt	9	15	10	7	0	2	2	2	1	0	1	3	3	3	3	1	2	3	3	1	2	1	5			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr2:179319178G>A	ENST00000409117.3	+	3	687	c.331G>A	c.(331-333)Gca>Aca	p.A111T	DFNB59_ENST00000375129.4_Missense_Mutation_p.A111T	NM_001042702.3	NP_001036167.1	Q0ZLH3	PJVK_HUMAN	deafness, autosomal recessive 59	111					sensory perception of sound					breast(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|upper_aerodigestive_tract(1)	18			OV - Ovarian serous cystadenocarcinoma(117;0.00406)|Epithelial(96;0.0159)|all cancers(119;0.0564)			AGATTCCATTGCAGTGAAAGC	0.348													A	179319178	G	A	179319178	3	1	759	1	0	0	0	0	1	0	0	0	4495	1319	46	2	337	2	DFNB59	2	179319178	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	72278925	179319178	63880195	9	56798											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	759	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	29793934	209113112	34086261	10	56799											
PTH1R	5745	broad.mit.edu	37	chr3	46944925	46944925	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcctgcccctcagccccCgcctactgcccactgccacc	4	6	7	24	2	1	0	1	0	0	0	2	0	1	0	9	1	5	0	9	1	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:46944925C>T	ENST00000449590.1	+	16	1764	c.1561C>T	c.(1561-1563)Cgc>Tgc	p.R521C	PTH1R_ENST00000430002.2_Missense_Mutation_p.R521C|PTH1R_ENST00000418619.1_Missense_Mutation_p.R521C|PTH1R_ENST00000313049.5_Missense_Mutation_p.R521C	NM_000316.2	NP_000307.1	Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	521						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						CCTCAGCCCCCGCCTACTGCC	0.682													T	46944925	C	T	46944925	3	4	759	1	0	0	0	0	1	0	0	0	12844	652	23	1	1615	1	PTH1R	3	46944925	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		46944925	151077505	11	56800											
MORC1	27136	broad.mit.edu	37	chr3	108773717	108773717	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattaacaattccaaccacGcctgcgccaagtctgagaaa	15	8	6	12	2	1	1	0	1	1	1	2	2	2	1	4	0	3	0	4	0	6	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr3:108773717G>A	ENST00000232603.5	-	14	1270	c.1188C>T	c.(1186-1188)ggC>ggT	p.G396G	MORC1_ENST00000483760.1_Silent_p.G396G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	396					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						TTCCAACCACGCCTGCGCCAA	0.308													A	108773717	G	A	108773717	2	1	759	1	0	0	0	0	0	0	0	1	9777	1074	38	1		1	MORC1	3	108773717	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	61828792	108773717	89248713	12	56801											
BANK1	55024	broad.mit.edu	37	chr4	102791660	102791661	+	Splice_Site	DEL	AG	AG	-																															acccttgtttgtttttcataAgagtttcctgctggttcagt																										TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:102791660_102791661delAG	ENST00000504592.1	+	9	1136		c.e9-1		BANK1_ENST00000444316.2_Splice_Site|BANK1_ENST00000428908.1_Splice_Site|BANK1_ENST00000508653.1_Splice_Site|BANK1_ENST00000322953.4_Splice_Site			Q8NDB2	BANK1_HUMAN	B-cell scaffold protein with ankyrin repeats 1						B cell activation					NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|liver(2)|lung(16)|ovary(2)|skin(2)|urinary_tract(1)	44		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)		GTTTTTCATAAGAGTTTCCTGC	0.342													-	102791661	AG	-	102791660	8	5	759	1	0	1	0	1	0	0	1	0	1314	86	3	0	780	0	BANK1	4	102791660	Splice_Site	DEL	AG	TCGA-TQ-A7RF-01A-11D-A33T-08		102791660	88362616	13	56802											
CENPE	1062	broad.mit.edu	37	chr4	104062907	104062907	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caatccccccataaaaatacCttttcttgtaatttagcatt	13	15	2	11	0	1	0	0	0	1	0	2	0	2	0	4	0	2	2	4	0	7	9			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:104062907C>A	ENST00000265148.3	-	35	5552	c.5463G>T	c.(5461-5463)aaG>aaT	p.K1821N	CENPE_ENST00000380026.3_Splice_Site_p.K1796N	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1821					blood coagulation|cell division|kinetochore assembly|microtubule-based movement|mitotic chromosome movement towards spindle pole|mitotic metaphase|mitotic metaphase plate congression|mitotic prometaphase|multicellular organismal development|positive regulation of protein kinase activity	condensed chromosome kinetochore|cytosol|microtubule|nucleus|spindle	ATP binding|kinetochore binding|microtubule motor activity			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ATAAAAATACCTTTTCTTGTA	0.313													A	104062907	C	A	104062907	5	1	759	1	0	0	0	0	0	0	1	0	3260	695	24	4	2702	4	CENPE	4	104062907	Splice_Site	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	1271247	104062907	87091369	14	56803											
ANK2	287	broad.mit.edu	37	chr4	114208764	114208764	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccattctttctgtagagtGgactcacatccttacacctt	8	16	5	12	0	3	1	1	0	2	1	5	2	5	2	3	1	1	1	3	1	2	6			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:114208764G>A	ENST00000357077.4	+	19	2136	c.2083G>A	c.(2083-2085)Gga>Aga	p.G695R	ANK2_ENST00000506722.1_Missense_Mutation_p.G674R|ANK2_ENST00000264366.6_Missense_Mutation_p.G695R|ANK2_ENST00000394537.3_Missense_Mutation_p.G695R	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	695					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		TCTGTAGAGTGGACTCACATC	0.348													A	114208764	G	A	114208764	3	1	759	1	0	0	0	0	1	0	0	0	621	1349	47	2	2182	2	ANK2	4	114208764	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	10145857	114208764	76945512	15	56804											
SLC10A7	84068	broad.mit.edu	37	chr4	147431123	147431123	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagctgaagaaaaagccataTtgttgctgggaagaatgcaa	17	8	11	5	0	0	3	0	1	0	2	0	4	0	4	1	1	4	4	1	1	8	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr4:147431123T>C	ENST00000432059.2	-	3	508	c.262A>G	c.(262-264)Ata>Gta	p.I88V	SLC10A7_ENST00000507030.1_Missense_Mutation_p.I88V|SLC10A7_ENST00000511315.1_5'UTR|SLC10A7_ENST00000394059.4_Missense_Mutation_p.I88V|SLC10A7_ENST00000394062.3_Missense_Mutation_p.I88V|SLC10A7_ENST00000335472.7_Missense_Mutation_p.I88V|SLC10A7_ENST00000511374.1_Intron|SLC10A7_ENST00000264986.3_Intron			Q0GE19	NTCP7_HUMAN	solute carrier family 10, member 7	88						integral to membrane	bile acid:sodium symporter activity			endometrium(1)|kidney(3)|large_intestine(3)|lung(8)|skin(1)	16	all_hematologic(180;0.151)					AAAAGCCATATTGTTGCTGGG	0.368													C	147431123	T	C	147431123	3	2	759	1	0	0	0	0	1	0	0	0	14473	1493	52	3	845	3	SLC10A7	4	147431123	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	33222359	147431123	43723153	16	56805											
PCDHB6	56130	broad.mit.edu	37	chr5	140531282	140531282	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagactcaggcatcaacGcccaggtcacctactcgctg	11	6	9	15	2	3	1	3	0	0	1	4	2	3	1	2	2	2	2	2	2	2	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr5:140531282G>A	ENST00000231136.1	+	1	1444	c.1444G>A	c.(1444-1446)Gcc>Acc	p.A482T	PCDHB6_ENST00000543635.1_Missense_Mutation_p.A346T	NM_018939.2	NP_061762.1	Q9Y5E3	PCDB6_HUMAN		482	Cadherin 5.				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding			cervix(1)|endometrium(14)|kidney(6)|large_intestine(16)|liver(1)|lung(33)|ovary(1)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	84			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCATCAACGCCCAGGTCAC	0.642													A	140531282	G	A	140531282	3	1	759	1	0	0	0	0	1	0	0	0	11622	1087	38	1	1446	1	PCDHB6	5	140531282	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		140531282	40383978	17	56806											
MDC1	9656	broad.mit.edu	37	chr6	30668317	30668317	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcttcagcactccagtcagCaggaactcaggcgagaggag	11	6	13	11	1	3	1	3	0	0	1	4	4	4	3	1	3	4	3	1	3	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:30668317C>A	ENST00000376406.3	-	15	6842	c.6195G>T	c.(6193-6195)ctG>ctT	p.L2065L	MDC1_ENST00000376405.2_Silent_p.L1801L	NM_014641.2	NP_055456.2	Q14676	MDC1_HUMAN	mediator of DNA-damage checkpoint 1	2065	BRCT 2.|Required for nuclear localization (NLS2).				cell cycle|double-strand break repair via homologous recombination|intra-S DNA damage checkpoint	focal adhesion|nucleoplasm	FHA domain binding|protein C-terminus binding			breast(2)|kidney(1)|ovary(1)	4						CTCCAGTCAGCAGGAACTCAG	0.572								Other conserved DNA damage response genes					A	30668317	C	A	30668317	2	1	759	1	0	0	0	0	0	0	0	1	9478	697	25	4		4	MDC1	6	30668317	Silent	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		30668317	140446750	18	56807											
TFAP2D	83741	broad.mit.edu	37	chr6	50682829	50682829	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccccctcttccttccagAtacgtcacgacggatcaaac	9	11	5	16	3	3	1	2	0	1	1	6	3	6	2	4	1	2	0	4	1	2	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:50682829A>G	ENST00000008391.3	+	2	268	c.40A>G	c.(40-42)Ata>Gta	p.I14V		NM_172238.3	NP_758438.2	Q7Z6R9	AP2D_HUMAN	transcription factor AP-2 delta (activating enhancer binding protein 2 delta)	14							DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(26)|ovary(6)|pancreas(1)|prostate(5)|stomach(1)	60	Lung NSC(77;0.0334)					TTCCTTCCAGATACGTCACGA	0.527													G	50682829	A	G	50682829	5	3	759	1	0	0	0	0	0	0	1	0	15890	347	12	3	46	3	TFAP2D	6	50682829	Splice_Site	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	20014512	50682829	120432238	19	56808											
GRM1	2911	broad.mit.edu	37	chr6	146755399	146755401	+	In_Frame_Del	DEL	CAG	CAG	-																															agggcttgccccctcctctcCagcagcagcagcaaccccct																										TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:146755399_146755401delCAG	ENST00000361719.2	+	9	3522_3524	c.3052_3054delCAG	c.(3052-3054)cagdel	p.Q1022del	GRM1_ENST00000392299.2_3'UTR|GRM1_ENST00000282753.1_In_Frame_Del_p.Q1022del|GRM1_ENST00000355289.4_3'UTR|GRM1_ENST00000507907.1_3'UTR|GRM1_ENST00000492807.2_3'UTR	NM_001278064.1	NP_001264993.1	Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	1022	Gln/Pro-rich.				synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity			NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)	Acamprosate(DB00659)|L-Glutamic Acid(DB00142)	CCCTCCTCTCCAGCAGCAGCAGC	0.66													-	146755401	CAG	-	146755399	7	5	759	1	0	1	0	1	0	0	0	0	6851	595	21	0	3147	0	GRM1	6	146755399	In_Frame_Del	DEL	CAG	TCGA-TQ-A7RF-01A-11D-A33T-08	96072570	146755399	24359668	20	56809											
PHF10	55274	broad.mit.edu	37	chr6	170115929	170115930	+	Frame_Shift_Del	DEL	TC	TC	-																															cactttactggcttcaacttTctgagtattctgttgttgca																										TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr6:170115929_170115930delTC	ENST00000339209.4	-	6	690_691	c.567_568delGA	c.(565-570)cagaaafs	p.K190fs	PHF10_ENST00000366780.4_Frame_Shift_Del_p.K188fs	NM_018288.3|NM_133325.2	NP_060758.2|NP_579866.2	Q8WUB8	PHF10_HUMAN	PHD finger protein 10	190	SAY.				nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	npBAF complex	zinc ion binding			endometrium(2)|large_intestine(2)|liver(3)|lung(4)|prostate(2)|urinary_tract(1)	14		Breast(66;5.08e-05)|Ovarian(120;0.208)		OV - Ovarian serous cystadenocarcinoma(33;1.4e-21)|BRCA - Breast invasive adenocarcinoma(81;1.4e-07)|GBM - Glioblastoma multiforme(31;0.00176)		GCTTCAACTTTCTGAGTATTCT	0.351													-	170115930	TC	-	170115929	7	5	759	1	0	1	0	1	0	0	0	0	11898	1792	62	0	956	0	PHF10	6	170115929	Frame_Shift_Del	DEL	TC	TCGA-TQ-A7RF-01A-11D-A33T-08	23360530	170115929	999138	21	56810											
PLEKHA8	84725	broad.mit.edu	37	chr7	30085837	30085837	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgctcccagttcattctgtaGataatacacgcatggacctg	10	12	8	11	1	2	1	1	0	1	1	3	2	3	2	2	1	2	4	2	1	3	5			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr7:30085837G>C	ENST00000449726.1	+	3	519	c.169G>C	c.(169-171)Gat>Cat	p.D57H	PLEKHA8_ENST00000396257.2_Missense_Mutation_p.D57H|PLEKHA8_ENST00000258679.7_Missense_Mutation_p.D57H|PLEKHA8_ENST00000483799.1_3'UTR|PLEKHA8_ENST00000396259.1_Missense_Mutation_p.D57H	NM_001197027.1	NP_001183956.1	Q96JA3	PKHA8_HUMAN	pleckstrin homology domain containing, family A (phosphoinositide binding specific) member 8	57	PH.				protein transport	cytoplasm	glycolipid binding|glycolipid transporter activity			breast(4)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)	17						TCATTCTGTAGATAATACACG	0.517													C	30085837	G	C	30085837	3	2	759	1	0	0	0	0	1	0	0	0	12139	942	33	4	179	4	PLEKHA8	7	30085837	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		30085837	129052826	22	56811											
KIAA1429	25962	broad.mit.edu	37	chr8	95531654	95531654	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtgagcacttgttactggaAttgacagaagcaaggtaacc	13	9	12	7	0	0	3	0	2	0	1	0	4	0	4	1	3	4	4	1	3	5	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:95531654A>C	ENST00000297591.5	-	9	2147	c.2072T>G	c.(2071-2073)aTt>aGt	p.I691S	KIAA1429_ENST00000437199.1_Missense_Mutation_p.I691S|KIAA1429_ENST00000421249.2_Missense_Mutation_p.I691S	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	691					mRNA processing|RNA splicing	nucleus				NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			TGTTACTGGAATTGACAGAAG	0.408													C	95531654	A	C	95531654	3	2	759	1	0	0	0	0	1	0	0	0	8289	101	4	5	3484	5	KIAA1429	8	95531654	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		95531654	50832368	23	56812											
CSMD3	114788	broad.mit.edu	37	chr8	113484839	113484839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaaactcctttggaactgcTatagaataaacacaattatg	16	11	5	9	0	0	1	0	0	0	1	1	2	1	2	2	1	4	1	2	1	9	5			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484839T>C	ENST00000297405.5	-	32	5620	c.5376A>G	c.(5374-5376)atA>atG	p.I1792M	CSMD3_ENST00000343508.3_Missense_Mutation_p.I1752M|CSMD3_ENST00000455883.2_Missense_Mutation_p.I1688M|CSMD3_ENST00000352409.3_Missense_Mutation_p.I1792M	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1792	CUB 10.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TTGGAACTGCTATAGAATAAA	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			C	113484839	T	C	113484839	3	2	759	1	0	0	0	0	1	0	0	0	3979	1512	53	3	5907	3	CSMD3	8	113484839	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	17953185	113484839	32879183	24	56813											
CSMD3	114788	broad.mit.edu	37	chr8	113484933	113484933	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgttgaacgacttccacagGgcgctaggaaaaaatggcaa	14	7	11	9	2	0	1	0	1	0	0	1	3	1	2	1	3	1	3	1	3	6	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr8:113484933G>A	ENST00000297405.5	-	32	5526	c.5282C>T	c.(5281-5283)cCc>cTc	p.P1761L	CSMD3_ENST00000343508.3_Missense_Mutation_p.P1721L|CSMD3_ENST00000455883.2_Missense_Mutation_p.P1657L|CSMD3_ENST00000352409.3_Missense_Mutation_p.P1761L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1761						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						ACTTCCACAGGGCGCTAGGAA	0.318										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113484933	G	A	113484933	3	1	759	1	0	0	0	0	1	0	0	0	3979	1232	43	2	6001	2	CSMD3	8	113484933	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	94	113484933	32879089	25	56814											
TMEM2	23670	broad.mit.edu	37	chr9	74347348	74347348	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	gagtcctccacttctccttgGatcacaatattccgggtaag	9	12	8	12	1	2	0	1	0	1	0	6	2	5	1	4	2	0	1	4	2	3	5			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:74347348G>C	ENST00000377044.4	-	7	2021	c.1482C>G	c.(1480-1482)atC>atG	p.I494M	TMEM2_ENST00000377066.5_Missense_Mutation_p.I431M	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	494						integral to membrane				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		CTTCTCCTTGGATCACAATAT	0.438													C	74347348	G	C	74347348	3	2	759	1	0	0	0	0	1	0	0	0	16221	1164	41	4	2741	4	TMEM2	9	74347348	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		74347348	66866083	26	56815											
RNF20	56254	broad.mit.edu	37	chr9	104307093	104307093	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggagctgaactctttcCtcgcacaggagaatatgagg	11	9	12	9	1	1	3	0	2	1	1	3	5	2	4	1	3	3	3	1	3	3	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr9:104307093C>T	ENST00000389120.3	+	6	763	c.673C>T	c.(673-675)Ctc>Ttc	p.L225F		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	225					histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		GAACTCTTTCCTCGCACAGGA	0.413													T	104307093	C	T	104307093	3	4	759	1	0	0	0	0	1	0	0	0	13564	681	24	2	691	2	RNF20	9	104307093	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	29959745	104307093	36906338	27	56816											
NRP1	8829	broad.mit.edu	37	chr10	33619800	33619800	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttcaatttttatagtatcGccacatttatctgcaatgaa	12	17	4	8	1	2	1	1	1	1	0	3	1	2	1	1	0	1	2	1	0	7	8			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:33619800G>A	ENST00000265371.4	-	3	609	c.84C>T	c.(82-84)ggC>ggT	p.G28G	NRP1_ENST00000395995.1_Silent_p.G28G|NRP1_ENST00000374875.1_5'UTR|NRP1_ENST00000374867.2_Silent_p.G28G|NRP1_ENST00000374816.3_Silent_p.G28G|NRP1_ENST00000374822.4_Silent_p.G28G|NRP1_ENST00000374821.5_Silent_p.G28G|NRP1_ENST00000374823.5_Silent_p.G28G|NRP1_ENST00000432372.2_Silent_p.G28G			O14786	NRP1_HUMAN	neuropilin 1	28	CUB 1.				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity			NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	TTATAGTATCGCCACATTTAT	0.378													A	33619800	G	A	33619800	2	1	759	1	0	0	0	0	0	0	0	1	10736	1074	38	1		1	NRP1	10	33619800	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		33619800	101914947	28	56817											
FAM35A	54537	broad.mit.edu	37	chr10	88911830	88911830	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccttaaaatatcaactgataCagaatttctcagtataatta	17	14	3	7	0	2	2	2	1	1	1	3	2	2	2	1	0	2	1	1	0	9	7			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr10:88911830C>A	ENST00000298786.4	+	3	833	c.719C>A	c.(718-720)aCa>aAa	p.T240K	FAM35A_ENST00000298784.1_Missense_Mutation_p.T240K			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	240								p.T240K(2)		endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						TCAACTGATACAGAATTTCTC	0.388													A	88911830	C	A	88911830	3	1	759	1	0	0	0	0	1	0	0	0	5604	478	17	4	721	4	FAM35A	10	88911830	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	55292030	88911830	46622917	29	56818											
CDHR5	53841	broad.mit.edu	37	chr11	621209	621209	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgttcagcactagtgtggcGgtggcagtgtggctgggttc	5	11	17	8	2	1	0	1	0	0	0	2	0	1	0	0	5	1	5	0	5	1	3			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:621209G>A	ENST00000358353.3	-	8	982	c.660C>T	c.(658-660)acC>acT	p.T220T	CDHR5_ENST00000349570.7_Silent_p.T220T|CDHR5_ENST00000397542.2_Silent_p.T220T			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	220	Cadherin 2.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						CTAGTGTGGCGGTGGCAGTGT	0.652													A	621209	G	A	621209	2	1	759	1	0	0	0	0	0	0	0	1	3152	1103	39	1		1	CDHR5	11	621209	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		621209	134385307	30	56819											
OR4C13	283092	broad.mit.edu	37	chr11	49974720	49974720	+	Missense_Mutation	SNP	T	T	A																															cacagttgtcatcttatcctTtataccctgcatatttgtgt																										TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974720T>A	ENST00000555099.1	+	1	778	c.746T>A	c.(745-747)tTt>tAt	p.F249Y		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						ATCTTATCCTTTATACCCTGC	0.438													A	49974720	T	A	49974720	3	1	759	1	0	0	0	0	1	0	0	0	11123	1841	64	5	748	5	OR4C13	11	49974720	Missense_Mutation	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	49353511	49974720	85031796	31	56820	178	2									
OR4C13	283092	broad.mit.edu	37	chr11	49974721	49974721	+	Silent	SNP	T	T	C																															acagttgtcatcttatccttTataccctgcatatttgtgta																										TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:49974721T>C	ENST00000555099.1	+	1	779	c.747T>C	c.(745-747)ttT>ttC	p.F249F		NM_001001955.2	NP_001001955.2	Q8NGP0	OR4CD_HUMAN	olfactory receptor, family 4, subfamily C, member 13	249					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(24)|ovary(2)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)	43						TCTTATCCTTTATACCCTGCA	0.438													C	49974721	T	C	49974721	2	2	759	1	0	0	0	0	0	0	0	1	11123	1751	61	3		3	OR4C13	11	49974721	Silent	SNP	T	TCGA-TQ-A7RF-01A-11D-A33T-08	1	49974721	85031795	32	56821	178	2									
OR10W1	81341	broad.mit.edu	37	chr11	58034747	58034747	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaggcacagcaatggctagtAtggctgccaccagcactgac	12	6	11	12	0	0	1	0	1	0	0	0	1	0	1	2	3	3	6	2	3	4	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:58034747A>T	ENST00000395079.2	-	1	985	c.584T>A	c.(583-585)aTa>aAa	p.I195K		NM_207374.3	NP_997257.2	Q8NGF6	O10W1_HUMAN	olfactory receptor, family 10, subfamily W, member 1	195					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(2)|large_intestine(2)|lung(19)|ovary(2)|skin(1)	26		Breast(21;0.0589)				AATGGCTAGTATGGCTGCCAC	0.547													T	58034747	A	T	58034747	3	4	759	1	0	0	0	0	1	0	0	0	10997	449	16	5	337	5	OR10W1	11	58034747	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	8060026	58034747	76971769	33	56822											
SLC22A9	114571	broad.mit.edu	37	chr11	63149682	63149682	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aggcagcacaaaaaaaaaaaCcttctctgtgtgaaatgctc	17	8	7	9	0	1	1	0	1	1	0	3	1	1	1	1	1	3	3	1	1	6	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr11:63149682C>A	ENST00000279178.3	+	6	1255	c.1006C>A	c.(1006-1008)Cct>Act	p.P336T	SLC22A9_ENST00000310969.4_3'UTR	NM_080866.2	NP_543142.2	Q8IVM8	S22A9_HUMAN	solute carrier family 22 (organic anion transporter), member 9	336					transmembrane transport	integral to membrane				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)	18						AAAAAAAAAACCTTCTCTGTG	0.388													A	63149682	C	A	63149682	3	1	759	1	0	0	0	0	1	0	0	0	14555	507	18	4	1028	4	SLC22A9	11	63149682	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	5114935	63149682	71856834	34	56823											
CD163	9332	broad.mit.edu	37	chr12	7639259	7639259	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagaaccagtggcattaatgGcctctccacagcccagctgt	10	8	9	14	0	1	1	0	0	1	1	2	1	1	1	4	2	3	2	4	2	2	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr12:7639259G>A	ENST00000359156.4	-	10	2496	c.2294C>T	c.(2293-2295)gCc>gTc	p.A765V	CD163_ENST00000432237.2_Missense_Mutation_p.A765V|CD163_ENST00000541972.1_Missense_Mutation_p.A753V|CD163_ENST00000396620.3_Missense_Mutation_p.A798V	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	765	SRCR 7.				acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						GGCATTAATGGCCTCTCCACA	0.537													A	7639259	G	A	7639259	3	1	759	1	0	0	0	0	1	0	0	0	2997	1203	42	2	1204	2	CD163	12	7639259	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		7639259	126212636	35	56824											
TMX1	81542	broad.mit.edu	37	chr14	51713839	51713839	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtgaatttaggcgctatcAgggtccaaggactaagaagg	12	9	14	6	1	1	2	1	1	0	1	2	3	2	3	1	5	0	1	1	5	6	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr14:51713839A>G	ENST00000457354.2	+	4	469	c.344A>G	c.(343-345)cAg>cGg	p.Q115R		NM_030755.4	NP_110382.3	Q9H3N1	TMX1_HUMAN	thioredoxin-related transmembrane protein 1	115	Thioredoxin.				anti-apoptosis|cell proliferation|cell redox homeostasis|DNA replication|electron transport chain|ER to Golgi vesicle-mediated transport|leukocyte activation|positive regulation of growth|positive regulation of transcription, DNA-dependent|response to stress|signal transduction	endoplasmic reticulum membrane|integral to membrane|membrane fraction	arsenate reductase (thioredoxin) activity|disulfide oxidoreductase activity			endometrium(2)|large_intestine(2)|urinary_tract(1)	5						AGGCGCTATCAGGGTCCAAGG	0.338													G	51713839	A	G	51713839	3	3	759	1	0	0	0	0	1	0	0	0	16366	188	7	3	358	3	TMX1	14	51713839	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		51713839	55635701	36	56825											
TLN2	83660	broad.mit.edu	37	chr15	63092622	63092622	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccctttctgatctcatcaGtgctaccaagggagctgcca	8	10	10	13	0	3	1	2	1	2	0	4	2	3	2	3	2	4	2	3	2	2	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr15:63092622G>T	ENST00000561311.1	+	48	6520	c.6290G>T	c.(6289-6291)aGt>aTt	p.S2097I	TLN2_ENST00000306829.6_Missense_Mutation_p.S2097I			Q9Y4G6	TLN2_HUMAN	talin 2	2097					cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton			NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GATCTCATCAGTGCTACCAAG	0.552													T	63092622	G	T	63092622	3	4	759	1	0	0	0	0	1	0	0	0	16048	1029	36	4	6472	4	TLN2	15	63092622	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		63092622	39438770	37	56826											
NUBP2	10101	broad.mit.edu	37	chr16	1838702	1838702	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattctggacgcgacgcccgCgtgcctcccctgactaaggc	6	7	12	16	5	1	1	0	1	1	0	2	4	2	2	4	2	1	0	4	2	1	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:1838702C>A	ENST00000262302.9	+	7	923	c.803C>A	c.(802-804)gCg>gAg	p.A268E	NUBP2_ENST00000543305.1_Missense_Mutation_p.A127E|NUBP2_ENST00000565987.1_Missense_Mutation_p.A208E|NUBP2_ENST00000568706.1_Missense_Mutation_p.A127E	NM_001284501.1|NM_012225.2	NP_001271430.1|NP_036357.1	Q9Y5Y2	NUBP2_HUMAN	nucleotide binding protein 2	268						microtubule organizing center|nucleus	4 iron, 4 sulfur cluster binding|ATP binding|metal ion binding|protein binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	6						GCGACGCCCGCGTGCCTCCCC	0.652													A	1838702	C	A	1838702	3	1	759	1	0	0	0	0	1	0	0	0	10792	768	27	4	829	4	NUBP2	16	1838702	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		1838702	88516051	38	56827											
ITGAL	3683	broad.mit.edu	37	chr16	30505561	30505561	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gtgacctggctgccctcccgGcaaaagacttcgttgctggc	6	9	12	14	2	0	2	0	1	0	1	2	2	1	2	3	3	2	4	3	3	2	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr16:30505561G>A	ENST00000356798.6	+	12	1422	c.1242G>A	c.(1240-1242)cgG>cgA	p.R414R	ITGAL_ENST00000568012.1_3'UTR|ITGAL_ENST00000358164.5_Silent_p.R331R|ITGAL_ENST00000433423.2_Intron	NM_002209.2	NP_002200.2	P20701	ITAL_HUMAN	integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)	414					blood coagulation|heterophilic cell-cell adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response|T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell	integrin complex	cell adhesion molecule binding|receptor activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(10)|kidney(4)|large_intestine(12)|lung(32)|ovary(3)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	76					Efalizumab(DB00095)	TGCCCTCCCGGCAAAAGACTT	0.617													A	30505561	G	A	30505561	2	1	759	1	0	0	0	0	0	0	0	1	7944	1190	42	2		2	ITGAL	16	30505561	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	28666859	30505561	59849192	39	56828											
SMG6	23293	broad.mit.edu	37	chr17	2202239	2202239	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccaggccctccggactgatgCggtccctggagagcaggttg	6	7	15	13	2	0	2	0	1	0	1	2	4	2	3	4	5	2	2	4	5	0	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:2202239C>T	ENST00000544865.1	-	2	2225	c.1715G>A	c.(1714-1716)cGc>cAc	p.R572H	SMG6_ENST00000263073.6_Missense_Mutation_p.R603H			Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	603					mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation|telomere maintenance	chromosome, telomeric region|cytosol|nucleolus|telomerase holoenzyme complex	endoribonuclease activity|metal ion binding|protein binding|telomeric DNA binding			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CGGACTGATGCGGTCCCTGGA	0.582													T	2202239	C	T	2202239	3	4	759	1	0	0	0	0	1	0	0	0	14891	768	27	1	2523	1	SMG6	17	2202239	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		2202239	78992971	40	56829											
TP53	7157	broad.mit.edu	37	chr17	7579361	7579361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgcaagaagcccagacggAaaccgtagctgccctggtag	13	5	12	11	2	0	2	0	0	0	2	0	3	0	3	3	2	5	4	3	2	6	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:7579361A>G	ENST00000420246.2	-	4	458	c.326T>C	c.(325-327)tTc>tCc	p.F109S	TP53_ENST00000445888.2_Missense_Mutation_p.F109S|TP53_ENST00000413465.2_Missense_Mutation_p.F109S|TP53_ENST00000455263.2_Missense_Mutation_p.F109S|TP53_ENST00000359597.4_Missense_Mutation_p.F109S|TP53_ENST00000269305.4_Missense_Mutation_p.F109S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	109	Interaction with HIPK1 (By similarity).|Interaction with WWOX.		F -> C (in sporadic cancers; somatic mutation).|F -> L (in a sporadic cancer; somatic mutation).|F -> S (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.0?(8)|p.F109C(4)|p.F109S(4)|p.G59fs*23(3)|p.G108_F109delGF(2)|p.F109_R110delFR(2)|p.V73fs*9(1)|p.G105_T125del21(1)|p.Y107fs*44(1)|p.Y103_G112>C(1)|p.P13fs*18(1)|p.S33fs*23(1)|p.Y107fs*38(1)|p.Y103_L111>L(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)		GCCCAGACGGAAACCGTAGCT	0.612		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)			G	7579361	A	G	7579361	3	3	759	1	0	0	0	0	1	0	0	0	16482	246	9	3	976	3	TP53	17	7579361	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08	5377122	7579361	73615849	41	56830											
GRB7	2886	broad.mit.edu	37	chr17	37902419	37902419	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggctttgtcctctctttgtgCcacctgcagaaagtgaagca	8	12	10	11	0	1	2	0	1	1	1	3	2	2	2	3	1	3	3	3	1	2	2			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr17:37902419C>T	ENST00000309185.3	+	13	1578	c.1328C>T	c.(1327-1329)gCc>gTc	p.A443V	GRB7_ENST00000309156.4_Silent_p.C472C|GRB7_ENST00000394209.2_Silent_p.C472C|GRB7_ENST00000445327.2_Silent_p.C495C|GRB7_ENST00000394211.3_Silent_p.C472C|GRB7_ENST00000394204.1_Missense_Mutation_p.A443V			Q14451	GRB7_HUMAN	growth factor receptor-bound protein 7	0	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.C472C(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)			TCTCTTTGTGCCACCTGCAGA	0.587													T	37902419	C	T	37902419	3	4	759	1	0	0	0	0	1	0	0	0	6814	747	26	2	1466	2	GRB7	17	37902419	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	30323058	37902419	43292791	42	56831											
EPB41L3	23136	broad.mit.edu	37	chr18	5428387	5428387	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttgggccaggcaaatctGtttattcgcagccggtcgcg	7	10	12	12	4	1	0	0	0	1	0	3	0	1	0	3	3	1	3	3	3	2	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr18:5428387G>C	ENST00000341928.2	-	9	1330	c.990C>G	c.(988-990)aaC>aaG	p.N330K	EPB41L3_ENST00000540638.2_Missense_Mutation_p.N330K|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000400111.3_Missense_Mutation_p.N330K|EPB41L3_ENST00000544123.1_Missense_Mutation_p.N330K	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	330	FERM.				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						AGGCAAATCTGTTTATTCGCA	0.428													C	5428387	G	C	5428387	3	2	759	1	0	0	0	0	1	0	0	0	5195	1368	48	4	2329	4	EPB41L3	18	5428387	Missense_Mutation	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		5428387	72648861	43	56832											
PCSK4	54760	broad.mit.edu	37	chr19	1487226	1487226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcctcgggaccccagctggCgctgtaaatgtggatgtgct	6	10	14	11	2	0	0	0	0	0	0	2	2	1	2	3	3	2	4	3	3	2	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:1487226C>T	ENST00000300954.5	-	7	830	c.769G>A	c.(769-771)Gcc>Acc	p.A257T	PCSK4_ENST00000587784.1_5'UTR	NM_017573.3	NP_060043.2	Q6UW60	PCSK4_HUMAN	proprotein convertase subtilisin/kexin type 4	257	Catalytic (By similarity).				proteolysis	integral to membrane	serine-type endopeptidase activity			cervix(2)|endometrium(2)|kidney(1)|lung(6)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	15		Acute lymphoblastic leukemia(61;3.02e-13)|all_hematologic(61;4.32e-09)|Hepatocellular(1079;0.137)		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)		CCCCAGCTGGCGCTGTAAATG	0.682													T	1487226	C	T	1487226	3	4	759	1	0	0	0	0	1	0	0	0	11678	768	27	1	1534	1	PCSK4	19	1487226	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		1487226	57641757	44	56833											
ZNF254	9534	broad.mit.edu	37	chr19	24309234	24309234	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttataatggacttaaccaGtgtttcacaactgcccagag	12	11	9	9	0	1	1	1	0	0	1	1	2	1	2	2	2	3	2	2	2	4	4			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr19:24309234G>A	ENST00000357002.4	+	4	547	c.432G>A	c.(430-432)caG>caA	p.Q144Q	ZNF254_ENST00000342944.6_Silent_p.Q59Q	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	144					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				GACTTAACCAGTGTTTCACAA	0.313													A	24309234	G	A	24309234	2	1	759	1	0	0	0	0	0	0	0	1	17899	1020	36	2		2	ZNF254	19	24309234	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08	22822008	24309234	34819749	45	56834											
TPTE	7179	broad.mit.edu	37	chr21	10941931	10941931	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattggatttctatagaaagActgccttccagaagatggaa	14	11	10	6	0	1	4	0	0	1	4	2	7	2	6	2	2	1	0	2	2	5	5			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr21:10941931A>T	ENST00000298232.7	-	13	1085	c.718T>A	c.(718-720)Tct>Act	p.S240T	TPTE_ENST00000415664.2_5'UTR|TPTE_ENST00000342420.5_Missense_Mutation_p.S220T|TPTE_ENST00000361285.4_Missense_Mutation_p.S258T	NM_199259.2	NP_954868	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	258	Phosphatase tensin-type.				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		CTATAGAAAGACTGCCTTCCA	0.313													T	10941931	A	T	10941931	3	4	759	1	0	0	0	0	1	0	0	0	16531	275	10	5	927	5	TPTE	21	10941931	Missense_Mutation	SNP	A	TCGA-TQ-A7RF-01A-11D-A33T-08		10941931	37187964	46	56835											
EMID1	129080	broad.mit.edu	37	chr22	29629640	29629640	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggccccacaggtgtccctggGagtcctggtcacatagtgag	7	8	14	12	0	1	1	1	1	0	0	3	2	3	2	4	4	0	0	4	4	1	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chr22:29629640G>A	ENST00000334018.6	+	10	1139	c.951G>A	c.(949-951)ggG>ggA	p.G317G	EMID1_ENST00000404755.3_Silent_p.G317G|EMID1_ENST00000404820.3_Silent_p.G317G|EMID1_ENST00000484039.1_3'UTR	NM_001267895.1|NM_133455.3	NP_001254824.1|NP_597712.2	Q96A84	EMID1_HUMAN	EMI domain containing 1	315	Collagen-like.					collagen				NS(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(2)|skin(3)	12						GTGTCCCTGGGAGTCCTGGTC	0.522													A	29629640	G	A	29629640	2	1	759	1	0	0	0	0	0	0	0	1	5132	1161	41	2		2	EMID1	22	29629640	Silent	SNP	G	TCGA-TQ-A7RF-01A-11D-A33T-08		29629640	21674926	47	56836											
CLCN4	1183	broad.mit.edu	37	chrX	10181805	10181805	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtacatcgtgcccctgatggCggcggctgtgaccagcaagt	7	8	14	12	3	0	2	0	2	0	0	1	2	0	2	3	3	3	3	3	3	2	1			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:10181805C>T	ENST00000380833.4	+	11	2052	c.1661C>T	c.(1660-1662)gCg>gTg	p.A554V	CLCN4_ENST00000421085.2_Missense_Mutation_p.A460V|CLCN4_ENST00000380829.1_Missense_Mutation_p.A523V	NM_001256944.1|NM_001830.3	NP_001243873.1|NP_001821.2	P51793	CLCN4_HUMAN	chloride channel, voltage-sensitive 4	554						early endosome membrane|integral to membrane|late endosome membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(11)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						CCCCTGATGGCGGCGGCTGTG	0.537													T	10181805	C	T	10181805	3	4	759	1	0	0	0	0	1	0	0	0	3496	768	27	1	1695	1	CLCN4	23	10181805	Missense_Mutation	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08		10181805	145088755	48	56837											
MCF2	4168	broad.mit.edu	37	chrX	138697040	138697040	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaaagtaagacattttacCttgtttagatgaaaaaaatg	18	12	8	3	0	0	4	0	1	0	3	0	5	0	4	1	0	1	2	1	0	7	6			TCGA-TQ-A7RF-01A-11D-A33T-08	TCGA-TQ-A7RF-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	58c1cc42-b3e6-43ea-a17b-f2ed8e600c3f	91c432f5-7d2f-45c4-8e8d-bc36f4fc9180	g.chrX:138697040C>A	ENST00000520602.1	-	13	1828	c.1543G>T	c.(1543-1545)Ggg>Tgg	p.G515W	MCF2_ENST00000370578.4_Splice_Site_p.G600W|MCF2_ENST00000414978.1_Splice_Site_p.G515W|MCF2_ENST00000536274.1_Splice_Site_p.G416W|MCF2_ENST00000338585.6_Splice_Site_p.V455L|MCF2_ENST00000370573.4_Splice_Site_p.G455W|MCF2_ENST00000483690.1_5'UTR|MCF2_ENST00000370576.4_Splice_Site_p.G455W|MCF2_ENST00000519895.1_Splice_Site_p.V515L			P10911	MCF2_HUMAN	MCF.2 cell line derived transforming sequence	455	DH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|membrane|membrane fraction	protein binding|Rho guanyl-nucleotide exchange factor activity			NS(2)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(15)|lung(34)|pancreas(1)|pleura(1)|prostate(1)	62	Acute lymphoblastic leukemia(192;0.000127)					GACATTTTACCTTGTTTAGAT	0.363													A	138697040	C	A	138697040	5	1	759	1	0	0	0	0	0	0	1	0	9453	695	24	4	1558	4	MCF2	23	138697040	Splice_Site	SNP	C	TCGA-TQ-A7RF-01A-11D-A33T-08	128515235	138697040	16573520	49	56838											
RGS4	5999	broad.mit.edu	37	chr1	163044271	163044271	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctatcttgatttggtcaaccCgtccagctgtggggcagaaa	9	11	11	10	1	2	2	1	1	1	1	3	2	3	2	2	3	2	2	2	3	3	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr1:163044271C>T	ENST00000421743.2	+	6	990	c.830C>T	c.(829-831)cCg>cTg	p.P277L	RGS4_ENST00000531057.1_Intron|RGS4_ENST00000367908.4_3'UTR|RGS4_ENST00000367909.6_Missense_Mutation_p.P180L|RGS4_ENST00000491263.1_3'UTR|RGS4_ENST00000527809.1_Missense_Mutation_p.P162L|RGS4_ENST00000367906.3_Missense_Mutation_p.P162L	NM_001102445.2|NM_001113380.1	NP_001095915.1|NP_001106851.1	P49798	RGS4_HUMAN	regulator of G-protein signaling 4	180					inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	p.P180Q(1)|p.P277Q(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|upper_aerodigestive_tract(2)	21						TTGGTCAACCCGTCCAGCTGT	0.517													T	163044271	C	T	163044271	3	4	760	1	0	0	0	0	1	0	0	0	13396	652	23	1	852	1	RGS4	1	163044271	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		163044271	86206350	1	56839											
OTX1	5013	broad.mit.edu	37	chr2	63283169	63283169	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcactcacatcaccacccGcaccagctcagccccatggc	10	5	6	20	1	3	0	3	0	0	0	3	0	3	0	5	1	3	3	5	1	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:63283169G>A	ENST00000366671.3	+	5	1059	c.783G>A	c.(781-783)ccG>ccA	p.P261P	OTX1_ENST00000282549.2_Silent_p.P261P	NM_001199770.1	NP_001186699.1	P32242	OTX1_HUMAN	orthodenticle homeobox 1	261						nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|pancreas(2)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Lung NSC(7;0.121)|all_lung(7;0.211)					ATCACCACCCGCACCAGCTCA	0.652													A	63283169	G	A	63283169	2	1	760	1	0	0	0	0	0	0	0	1	11396	1074	38	1		1	OTX1	2	63283169	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		63283169	179916204	2	56840											
PROKR1	10887	broad.mit.edu	37	chr2	68873329	68873329	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agatggactactatgtggtgCgccagctctcctgggagcac	8	9	13	11	1	1	1	0	0	1	1	2	3	1	3	2	3	4	2	2	3	2	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:68873329C>T	ENST00000303786.3	+	2	796	c.376C>T	c.(376-378)Cgc>Tgc	p.R126C	PROKR1_ENST00000394342.2_Missense_Mutation_p.R126C			Q8TCW9	PKR1_HUMAN	prokineticin receptor 1	126						integral to membrane|plasma membrane	neuropeptide Y receptor activity			endometrium(3)|kidney(2)|large_intestine(14)|lung(9)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTATGTGGTGCGCCAGCTCTC	0.592													T	68873329	C	T	68873329	3	4	760	1	0	0	0	0	1	0	0	0	12638	768	27	1	378	1	PROKR1	2	68873329	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	5590160	68873329	174326044	3	56841											
CIR1	9541	broad.mit.edu	37	chr2	175216364	175216364	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tacctgtgatggatcatttgCggtcaagtttctccccagta	8	14	9	10	1	3	1	2	1	1	0	4	2	3	2	3	2	2	2	3	2	3	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:175216364C>T	ENST00000342016.3	-	8	666	c.574G>A	c.(574-576)Gca>Aca	p.A192T	CIR1_ENST00000362053.5_Missense_Mutation_p.R201H	NM_004882.3	NP_004873.3	Q86X95	CIR1_HUMAN	corepressor interacting with RBPJ, 1	192					mRNA processing|negative regulation of transcription, DNA-dependent|RNA splicing	nuclear speck	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(5)|skin(1)	15						GGATCATTTGCGGTCAAGTTT	0.403													T	175216364	C	T	175216364	3	4	760	1	0	0	0	0	1	0	0	0	3462	768	27	1	790	1	CIR1	2	175216364	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	106343035	175216364	67983009	4	56842											
ALS2	57679	broad.mit.edu	37	chr2	202626336	202626336	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttccggcacatactgctgGttggctactgcacactggcc	6	10	12	13	1	0	0	0	0	0	0	1	0	1	0	2	5	4	6	2	5	2	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:202626336G>A	ENST00000264276.6	-	4	753	c.381C>T	c.(379-381)aaC>aaT	p.N127N	ALS2_ENST00000467448.1_Silent_p.N127N|ALS2_ENST00000496244.1_5'UTR	NM_020919.3	NP_065970.2	Q96Q42	ALS2_HUMAN	amyotrophic lateral sclerosis 2 (juvenile)	127					cell death|endosome organization|positive regulation of Rac GTPase activity|regulation of endosome size	centrosome|cytosol|early endosome|growth cone|lamellipodium|protein complex|ruffle	protein homodimerization activity|protein serine/threonine kinase activator activity|Rab GTPase binding|Rab guanyl-nucleotide exchange factor activity|Rac guanyl-nucleotide exchange factor activity|Ran guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(22)|ovary(1)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)	72						CATACTGCTGGTTGGCTACTG	0.527													A	202626336	G	A	202626336	2	1	760	1	0	0	0	0	0	0	0	1	550	1252	44	2		2	ALS2	2	202626336	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	27409972	202626336	40573037	5	56843											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	760	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	6486776	209113112	34086261	6	56844											
FGD5	152273	broad.mit.edu	37	chr3	14949183	14949183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtccacattgagcacagcGtccggggccaaggggatctc	8	7	14	12	2	1	1	0	1	1	0	4	2	3	2	3	5	2	1	3	5	1	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:14949183G>A	ENST00000285046.5	+	10	3411	c.3301G>A	c.(3301-3303)Gtc>Atc	p.V1101I	FGD5_ENST00000543601.1_Missense_Mutation_p.V860I|FGD5_ENST00000476851.1_3'UTR	NM_152536.3	NP_689749.3	Q6ZNL6	FGD5_HUMAN	FYVE, RhoGEF and PH domain containing 5	1101					actin cytoskeleton organization|filopodium assembly|regulation of Cdc42 GTPase activity|regulation of cell shape	cytoskeleton|Golgi apparatus|lamellipodium|ruffle	metal ion binding|Rho guanyl-nucleotide exchange factor activity|small GTPase binding			NS(2)|breast(2)|endometrium(3)|kidney(5)|large_intestine(10)|lung(25)|ovary(3)|pancreas(1)|prostate(2)|urinary_tract(1)	54						TGAGCACAGCGTCCGGGGCCA	0.627													A	14949183	G	A	14949183	3	1	760	1	0	0	0	0	1	0	0	0	5885	1145	40	1	3339	1	FGD5	3	14949183	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		14949183	183073247	7	56845											
STAB1	23166	broad.mit.edu	37	chr3	52538884	52538884	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agatcaccgtcacctttaacCaattcacggtgagggaggag	12	8	11	10	2	3	2	3	1	0	1	3	4	3	4	3	3	1	0	3	3	2	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:52538884C>T	ENST00000321725.6	+	12	1445	c.1369C>T	c.(1369-1371)Caa>Taa	p.Q457*		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	457	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CACCTTTAACCAATTCACGGT	0.622													T	52538884	C	T	52538884	4	4	760	1	0	0	0	0	0	1	0	0	15333	595	21	2	1415	2	STAB1	3	52538884	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	37589701	52538884	145483546	8	56846											
TRIM42	287015	broad.mit.edu	37	chr3	140406741	140406741	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatctagaagtgtccaggcAgaaggaaattgaaaaatatg	18	8	11	4	0	1	3	0	1	1	2	2	5	2	4	1	2	0	1	1	2	8	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr3:140406741A>G	ENST00000286349.3	+	3	1408	c.1217A>G	c.(1216-1218)cAg>cGg	p.Q406R		NM_152616.4	NP_689829.3	Q8IWZ5	TRI42_HUMAN	tripartite motif containing 42	406						intracellular	zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|large_intestine(11)|lung(33)|ovary(2)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GTGTCCAGGCAGAAGGAAATT	0.443													G	140406741	A	G	140406741	3	3	760	1	0	0	0	0	1	0	0	0	16618	188	7	3	1227	3	TRIM42	3	140406741	Missense_Mutation	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08	87867857	140406741	57615689	9	56847											
SEL1L3	23231	broad.mit.edu	37	chr4	25849364	25849364	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcaaccgagacttcagaaacGttgcgaacgtttccttcaaa	13	10	7	11	4	3	2	3	0	0	2	4	4	4	2	2	0	4	2	2	0	4	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:25849364G>A	ENST00000502949.1	-	0	226				SEL1L3_ENST00000513364.1_Intron|SEL1L3_ENST00000264868.5_Silent_p.N60N|SEL1L3_ENST00000399878.3_Silent_p.N95N			Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)							integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						CTTCAGAAACGTTGCGAACGT	0.433													A	25849364	G	A	25849364	1	1	760	1	0	0	0	0	0	0	0	0	14105	1136	40	1		1	SEL1L3	4	25849364	Translation_Start_Site	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		25849364	165304912	10	56848											
SHROOM3	57619	broad.mit.edu	37	chr4	77692035	77692035	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagcggccttggtgaagatgCcagtaatgaagaaagggtag	13	8	15	5	1	0	4	0	2	0	2	0	4	0	4	2	3	2	2	2	3	6	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr4:77692035C>T	ENST00000296043.6	+	10	6559	c.5606C>T	c.(5605-5607)gCc>gTc	p.A1869V	RP11-359D14.3_ENST00000449007.1_RNA	NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	1869	ASD2.				apical protein localization|cell morphogenesis|cellular pigment accumulation|pattern specification process|regulation of cell shape	adherens junction|apical junction complex|apical plasma membrane|cytoplasm|microtubule	actin binding			NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGTGAAGATGCCAGTAATGAA	0.517													T	77692035	C	T	77692035	3	4	760	1	0	0	0	0	1	0	0	0	14389	739	26	2	5644	2	SHROOM3	4	77692035	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	51842671	77692035	113462241	11	56849											
ANKH	56172	broad.mit.edu	37	chr5	14749298	14749298	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacctctgtggctgcagaacTgccaccaaggtcccgggaaa	10	6	11	14	1	1	1	0	0	1	1	2	2	2	2	4	3	3	2	4	3	3	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:14749298T>A	ENST00000284268.6	-	6	1135	c.805A>T	c.(805-807)Agt>Tgt	p.S269C	ANKH_ENST00000503939.1_5'UTR|ANKH_ENST00000535119.1_Missense_Mutation_p.S71C	NM_054027.4	NP_473368.1	Q9HCJ1	ANKH_HUMAN	ANKH inorganic pyrophosphate transport regulator	269					locomotory behavior|regulation of bone mineralization|skeletal system development	integral to plasma membrane|outer membrane	inorganic diphosphate transmembrane transporter activity|inorganic phosphate transmembrane transporter activity			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(13)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	29						GCTGCAGAACTGCCACCAAGG	0.542													A	14749298	T	A	14749298	3	1	760	1	0	0	0	0	1	0	0	0	627	1580	55	5	701	5	ANKH	5	14749298	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08		14749298	166165962	12	56850											
NIPBL	25836	broad.mit.edu	37	chr5	36976456	36976456	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaattgagcgaatagagagaGaatcagctattgaaagggag	18	7	13	3	1	1	4	1	2	0	2	1	8	1	5	0	1	2	1	0	1	6	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:36976456G>T	ENST00000282516.8	+	9	1946	c.1447G>T	c.(1447-1449)Gaa>Taa	p.E483*	NIPBL_ENST00000504430.1_3'UTR|NIPBL_ENST00000448238.2_Nonsense_Mutation_p.E483*	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	483					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			AATAGAGAGAGAATCAGCTAT	0.363													T	36976456	G	T	36976456	4	4	760	1	0	0	0	0	0	1	0	0	10504	943	33	4	1477	4	NIPBL	5	36976456	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	22227158	36976456	143938804	13	56851											
GLRX	2745	broad.mit.edu	37	chr5	95158225	95158225	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtgtggttggtggctgtgaTatcgacaaattccagaagcc	10	11	13	7	1	0	2	0	1	0	1	2	3	1	2	2	3	1	2	2	3	3	3	rs150319338		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:95158225T>C	ENST00000379979.4	-	1	193	c.142A>G	c.(142-144)Atc>Gtc	p.I48V	GLRX_ENST00000505427.1_Missense_Mutation_p.I48V|GLRX_ENST00000512469.2_Missense_Mutation_p.I48V|GLRX_ENST00000237858.6_Missense_Mutation_p.I48V|GLRX_ENST00000508780.1_Missense_Mutation_p.I48V	NM_002064.2	NP_002055.1	P35754	GLRX1_HUMAN	glutaredoxin (thioltransferase)	48	Glutaredoxin.				cell redox homeostasis|electron transport chain|nucleobase, nucleoside and nucleotide interconversion|transport	cytosol	electron carrier activity|glutathione disulfide oxidoreductase activity|protein disulfide oxidoreductase activity|protein N-terminus binding			endometrium(3)|large_intestine(1)|lung(1)	5		all_cancers(142;3.38e-06)|all_epithelial(76;5.66e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;2.62e-16)	Glutathione(DB00143)	GTGGCTGTGATATCGACAAAT	0.498													C	95158225	T	C	95158225	3	2	760	1	0	0	0	0	1	0	0	0	6515	1406	49	3	186	3	GLRX	5	95158225	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	58181769	95158225	85757035	14	56852											
PCDHA1	56147	broad.mit.edu	37	chr5	140166994	140166994	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accgtcatcgccctcatcacCgtgtctgaccgtgactcagg	7	9	9	16	4	5	2	4	2	1	0	6	2	5	2	4	1	0	0	4	1	0	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:140166994C>T	ENST00000504120.2	+	1	1119	c.1119C>T	c.(1117-1119)acC>acT	p.T373T	PCDHA1_ENST00000394633.3_Silent_p.T373T|PCDHA1_ENST00000378133.3_Silent_p.T373T	NM_018900.2	NP_061723.1														breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCCTCATCACCGTGTCTGACC	0.527													T	140166994	C	T	140166994	2	4	760	1	0	0	0	0	0	0	0	1	11595	639	23	1		1	PCDHA1	5	140166994	Silent	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	45008769	140166994	40748266	15	56853											
ARAP3	64411	broad.mit.edu	37	chr5	141051740	141051740	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcgggaggacccacagtccGcacactgccggttggcccga	7	4	15	15	4	0	0	0	0	0	0	1	3	1	2	4	5	1	2	4	5	0	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr5:141051740G>A	ENST00000239440.4	-	10	1579	c.1514C>T	c.(1513-1515)gCg>gTg	p.A505V	ARAP3_ENST00000513878.1_Missense_Mutation_p.A167V|ARAP3_ENST00000508305.1_Missense_Mutation_p.A427V	NM_022481.5	NP_071926.4	Q8WWN8	ARAP3_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 3	505	Arf-GAP.				cytoskeleton organization|negative regulation of cell migration|negative regulation of Rho protein signal transduction|regulation of ARF GTPase activity|regulation of cell shape|small GTPase mediated signal transduction|vesicle-mediated transport	cytoskeleton|cytosol|lamellipodium|plasma membrane|ruffle	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|Rho GTPase activator activity|zinc ion binding			NS(1)|breast(7)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(13)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)	53						CCCACAGTCCGCACACTGCCG	0.612													A	141051740	G	A	141051740	3	1	760	1	0	0	0	0	1	0	0	0	843	1087	38	1	3216	1	ARAP3	5	141051740	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	884746	141051740	39863520	16	56854											
BMP6	654	broad.mit.edu	37	chr6	7845400	7845400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacaaggagttctcccctcGtcagcgacaccacaaagagt	12	6	9	14	3	2	1	1	0	1	1	4	4	2	2	3	1	1	1	3	1	2	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:7845400G>A	ENST00000283147.6	+	2	851	c.692G>A	c.(691-693)cGt>cAt	p.R231H		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	231					BMP signaling pathway|cartilage development|growth|immune response|positive regulation of aldosterone biosynthetic process|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|positive regulation of pathway-restricted SMAD protein phosphorylation|positive regulation of transcription from RNA polymerase II promoter|SMAD protein signal transduction	extracellular space	BMP receptor binding|cytokine activity|growth factor activity|protein heterodimerization activity	p.R231H(1)		breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TTCTCCCCTCGTCAGCGACAC	0.468													A	7845400	G	A	7845400	3	1	760	1	0	0	0	0	1	0	0	0	1470	1145	40	1	698	1	BMP6	6	7845400	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		7845400	163269667	17	56855											
MICB	4277	broad.mit.edu	37	chr6	31474146	31474146	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acacactatcgcgctatgcaGgcagactgcctgcagaaact	12	7	9	13	2	0	2	0	0	0	2	1	2	0	2	1	1	4	4	1	1	3	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:31474146G>A	ENST00000252229.6	+	3	631	c.552G>A	c.(550-552)caG>caA	p.Q184Q	MICB_ENST00000399150.3_Silent_p.Q141Q|MICB_ENST00000538442.1_Silent_p.Q152Q	NM_005931.3	NP_005922.2	Q29980	MICB_HUMAN	MHC class I polypeptide-related sequence B	184					antigen processing and presentation|cytolysis|gamma-delta T cell activation|immune response|immune response-activating cell surface receptor signaling pathway|interspecies interaction between organisms|negative regulation of defense response to virus by host|response to heat|response to oxidative stress|response to retinoic acid	integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	13						GCGCTATGCAGGCAGACTGCC	0.542													A	31474146	G	A	31474146	2	1	760	1	0	0	0	0	0	0	0	1	9650	991	35	2		2	MICB	6	31474146	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	23628746	31474146	139640921	18	56856											
DPPA5	340168	broad.mit.edu	37	chr6	74063933	74063933	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggcgggatatgtctacgtgCcgggagagttcccatcttat	7	11	13	10	4	2	1	0	0	2	1	3	3	3	2	2	3	2	1	2	3	3	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:74063933C>T	ENST00000370370.3	-	1	85	c.16G>A	c.(16-18)Gca>Aca	p.A6T		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	6					multicellular organismal development	cytoplasm	RNA binding			NS(1)|endometrium(1)|lung(5)	7						TGTCTACGTGCCGGGAGAGTT	0.577													T	74063933	C	T	74063933	3	4	760	1	0	0	0	0	1	0	0	0	4776	739	26	2	346	2	DPPA5	6	74063933	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	42589787	74063933	97051134	19	56857											
TULP4	56995	broad.mit.edu	37	chr6	158900996	158900996	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	acctctccactgccttcatcCccaccatcaaggtaaagccc	10	8	4	19	0	3	0	2	0	1	0	5	0	4	0	7	1	2	1	7	1	3	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr6:158900996C>T	ENST00000367097.3	+	7	2597	c.1240C>T	c.(1240-1242)Ccc>Tcc	p.P414S	TULP4_ENST00000367094.2_Missense_Mutation_p.P414S	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	414	SOCS box.				intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TGCCTTCATCCCCACCATCAA	0.637													T	158900996	C	T	158900996	3	4	760	1	0	0	0	0	1	0	0	0	16878	623	22	2	1266	2	TULP4	6	158900996	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	84837063	158900996	12214071	20	56858											
ZNF716	441234	broad.mit.edu	37	chr7	57528833	57528833	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagaatgtggcaaatccttTaactgctcttcaacccttac	12	12	6	11	0	2	1	1	0	1	1	3	2	3	1	2	1	4	2	2	1	6	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr7:57528833T>C	ENST00000420713.1	+	4	778	c.666T>C	c.(664-666)ttT>ttC	p.F222F		NM_001159279.1	NP_001152751.1			zinc finger protein 716											breast(1)|kidney(1)|lung(20)|ovary(2)	24						GCAAATCCTTTAACTGCTCTT	0.398													C	57528833	T	C	57528833	2	2	760	1	0	0	0	0	0	0	0	1	18220	1751	61	3		3	ZNF716	7	57528833	Silent	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08		57528833	101609830	21	56859											
MFHAS1	9258	broad.mit.edu	37	chr8	8750064	8750064	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggcaggtgcgccagccGgttaaagctgacatccagct	9	7	13	12	2	1	1	1	1	0	0	2	1	2	1	3	3	4	4	3	3	2	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:8750064G>A	ENST00000276282.6	-	1	1091	c.505C>T	c.(505-507)Cgg>Tgg	p.R169W		NM_004225.2	NP_004216.2	Q9Y4C4	MFHA1_HUMAN	malignant fibrous histiocytoma amplified sequence 1	169										endometrium(1)|kidney(3)|large_intestine(7)|lung(6)|ovary(1)|prostate(2)|stomach(1)	21		Hepatocellular(245;0.217)		COAD - Colon adenocarcinoma(149;0.124)		TGCGCCAGCCGGTTAAAGCTG	0.677													A	8750064	G	A	8750064	3	1	760	1	0	0	0	0	1	0	0	0	9596	1115	39	1	2665	1	MFHAS1	8	8750064	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		8750064	137613958	22	56860											
CPNE3	8895	broad.mit.edu	37	chr8	87568561	87568561	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgtgcctttcagacagttcCagaatgtgagtaccactcct	9	13	8	11	0	1	3	1	1	0	2	3	3	3	3	4	0	2	2	4	0	2	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr8:87568561C>T	ENST00000521271.1	+	16	1648	c.1486C>T	c.(1486-1488)Cag>Tag	p.Q496*	CPNE3_ENST00000198765.4_Nonsense_Mutation_p.Q496*	NM_003909.3	NP_003900.1	O75131	CPNE3_HUMAN	copine III	496	VWFA.				lipid metabolic process|vesicle-mediated transport	cytosol	calcium-dependent phospholipid binding|protein serine/threonine kinase activity|transporter activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	23						CAGACAGTTCCAGAATGTGAG	0.502													T	87568561	C	T	87568561	4	4	760	1	0	0	0	0	0	1	0	0	3844	595	21	2	1540	2	CPNE3	8	87568561	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	78818497	87568561	58795461	23	56861											
FAM189A2	9413	broad.mit.edu	37	chr9	72003231	72003231	+	Frame_Shift_Del	DEL	G	G	-																															atggacaccaagctgctggtGgcgaggttcctggagcagtc																										TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:72003231delG	ENST00000257515.8	+	10	1434	c.1014delG	c.(1012-1014)gtgfs	p.V338fs	FAM189A2_ENST00000303068.7_Frame_Shift_Del_p.V173fs|FAM189A2_ENST00000455972.1_Frame_Shift_Del_p.V338fs|FAM189A2_ENST00000469179.1_3'UTR|FAM189A2_ENST00000377216.3_Frame_Shift_Del_p.V125fs	NM_004816.3	NP_004807.3	Q15884	F1892_HUMAN	family with sequence similarity 189, member A2	338						integral to membrane				endometrium(3)|large_intestine(5)|liver(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	12						AGCTGCTGGTGGCGAGGTTCC	0.483													-	72003231	G	-	72003231	7	5	760	1	0	1	0	1	0	0	0	0	5563	1335	47	0	1048	0	FAM189A2	9	72003231	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RG-01A-11D-A33T-08		72003231	69210200	24	56862											
GABBR2	9568	broad.mit.edu	37	chr9	101068571	101068571	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atcccgatgtacttgctgtcGttgagtgcggggatgctgac	6	12	14	9	3	0	2	0	2	0	0	2	4	1	3	1	2	4	4	1	2	1	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr9:101068571G>A	ENST00000259455.2	-	15	2520	c.2061C>T	c.(2059-2061)aaC>aaT	p.N687N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	687					negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	ACTTGCTGTCGTTGAGTGCGG	0.547													A	101068571	G	A	101068571	2	1	760	1	0	0	0	0	0	0	0	1	6208	1136	40	1		1	GABBR2	9	101068571	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	29065340	101068571	40144860	25	56863											
ACBD5	91452	broad.mit.edu	37	chr10	27529418	27529418	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagagcctgcatgaaactggAacatggagcgcagccgcgga	13	4	14	10	3	0	2	0	1	0	1	0	5	0	5	2	3	6	2	2	3	3	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr10:27529418A>C	ENST00000375888.1	-	1	69	c.5T>G	c.(4-6)tTc>tGc	p.F2C	ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375905.4_Intron|ACBD5_ENST00000375901.1_Intron|ACBD5_ENST00000396271.3_Intron|ACBD5_ENST00000375897.3_5'UTR			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	2					transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						ATGAAACTGGAACATGGAGCG	0.632													C	27529418	A	C	27529418	3	2	760	1	0	0	0	0	1	0	0	0	125	261	9	5		5	ACBD5	10	27529418	Missense_Mutation	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08		27529418	108005329	26	56864											
NHLRC2	374354	broad.mit.edu	37	chr10	115639379	115639379	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atattttcagaatcaactttTaattctccacagggtgtagc	12	15	6	8	0	3	1	2	0	1	1	4	1	3	1	1	1	2	1	1	1	5	7			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr10:115639379T>C	ENST00000369301.3	+	4	1046	c.834T>C	c.(832-834)ttT>ttC	p.F278F		NM_198514.3	NP_940916.2	Q8NBF2	NHLC2_HUMAN	NHL repeat containing 2	278					cell redox homeostasis					breast(1)|endometrium(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	15				Epithelial(162;0.017)|all cancers(201;0.0187)		AATCAACTTTTAATTCTCCAC	0.308													C	115639379	T	C	115639379	2	2	760	1	0	0	0	0	0	0	0	1	10482	1751	61	3		3	NHLRC2	10	115639379	Silent	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	88109961	115639379	19895368	27	56865											
LIN7C	55327	broad.mit.edu	37	chr11	27520303	27520303	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taatttaacctttccttgtgCggctttcagcagttctacag	8	16	7	10	1	2	0	1	0	1	0	3	0	3	0	2	1	4	3	2	1	3	8			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:27520303C>T	ENST00000278193.2	-	5	507	c.487G>A	c.(487-489)Gca>Aca	p.A163T	LIN7C_ENST00000524596.1_Missense_Mutation_p.A139T	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	163	PDZ.				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction				endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						TTTCCTTGTGCGGCTTTCAGC	0.388													T	27520303	C	T	27520303	3	4	760	1	0	0	0	0	1	0	0	0	8873	768	27	1	110	1	LIN7C	11	27520303	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		27520303	107486213	28	56866											
KBTBD4	55709	broad.mit.edu	37	chr11	47597155	47597155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgccttaccttcaagcttGtcctgagtgactctgcaaaa	9	14	7	11	0	2	2	1	2	1	0	3	2	3	2	3	0	4	2	3	0	4	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:47597155G>A	ENST00000533290.1	-	2	1475	c.761C>T	c.(760-762)aCa>aTa	p.T254I	KBTBD4_ENST00000525720.1_Missense_Mutation_p.T278I|NDUFS3_ENST00000533507.1_Intron|KBTBD4_ENST00000430070.2_Missense_Mutation_p.T245I|KBTBD4_ENST00000395288.2_Missense_Mutation_p.T229I|KBTBD4_ENST00000526005.1_Missense_Mutation_p.T229I			Q9NVX7	KBTB4_HUMAN	kelch repeat and BTB (POZ) domain containing 4	229				A -> G (in Ref. 1; BAA91616).						NS(1)|breast(1)|central_nervous_system(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	24						CTTCAAGCTTGTCCTGAGTGA	0.403													A	47597155	G	A	47597155	3	1	760	1	0	0	0	0	1	0	0	0	8053	1377	48	2	878	2	KBTBD4	11	47597155	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	20076852	47597155	87409361	29	56867											
OR4P4	81300	broad.mit.edu	37	chr11	55406642	55406642	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctcagaagataaagtgtttgCccttttttataccatcattg	11	16	6	8	0	2	2	2	0	0	2	2	2	2	2	2	0	2	1	2	0	5	7			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:55406642C>T	ENST00000314612.2	+	1	809	c.809C>T	c.(808-810)gCc>gTc	p.A270V		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	270					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						AAAGTGTTTGCCCTTTTTTAT	0.403													T	55406642	C	T	55406642	3	4	760	1	0	0	0	0	1	0	0	0	11156	739	26	2	811	2	OR4P4	11	55406642	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	7809487	55406642	79599874	30	56868											
GIF	2694	broad.mit.edu	37	chr11	59603468	59603468	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agggttgctgggtagagttgGttgtacctcatgatctgtga	7	14	15	5	0	2	3	1	2	1	1	2	3	2	3	1	3	2	6	1	3	2	5			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:59603468G>A	ENST00000541311.1	-	7	1045	c.811C>T	c.(811-813)Cca>Tca	p.P271S	GIF_ENST00000257248.2_Missense_Mutation_p.P296S			P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	296					cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						GGTAGAGTTGGTTGTACCTCA	0.478													A	59603468	G	A	59603468	3	1	760	1	0	0	0	0	1	0	0	0	6432	1261	44	2	379	2	GIF	11	59603468	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	4196826	59603468	75403048	31	56869											
SLC3A2	6520	broad.mit.edu	37	chr11	62623842	62623842	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tgtccagggtctcagcgcggGggacgactcaggtactggat	7	8	16	10	3	2	0	2	0	1	0	4	3	3	2	1	5	2	1	1	5	1	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:62623842G>A	ENST00000377892.1	+	1	325	c.101G>A	c.(100-102)gGg>gAg	p.G34E	SLC3A2_ENST00000377891.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000535296.1_Missense_Mutation_p.G34E|SLC3A2_ENST00000377890.2_Missense_Mutation_p.G34E|SLC3A2_ENST00000377889.2_Missense_Mutation_p.G34E			P08195	4F2_HUMAN	solute carrier family 3 (amino acid transporter heavy chain), member 2	34					blood coagulation|carbohydrate metabolic process|cell growth|cellular nitrogen compound metabolic process|leucine import|leukocyte migration|tryptophan transport	apical plasma membrane|cell surface|integral to membrane|melanosome	calcium:sodium antiporter activity|catalytic activity|cation binding|neutral amino acid transmembrane transporter activity|protein binding			endometrium(1)|kidney(3)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)	22						CTCAGCGCGGGGGACGACTCA	0.607													A	62623842	G	A	62623842	3	1	760	1	0	0	0	0	1	0	0	0	14721	1232	43	2	103	2	SLC3A2	11	62623842	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	3020374	62623842	72382674	32	56870											
C11orf84	144097	broad.mit.edu	37	chr11	63586445	63586445	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagggaagtggcagaaggagGccttccccgggcggagagcc	9	3	18	11	2	0	2	0	0	0	2	1	5	1	4	4	6	1	1	4	6	2	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:63586445G>A	ENST00000294244.4	+	5	1204	c.905G>A	c.(904-906)gGc>gAc	p.G302D		NM_138471.1	NP_612480.1	Q9BUA3	CK084_HUMAN	chromosome 11 open reading frame 84	302										endometrium(3)|kidney(1)|lung(3)|skin(1)	8						GCAGAAGGAGGCCTTCCCCGG	0.662													A	63586445	G	A	63586445	3	1	760	1	0	0	0	0	1	0	0	0	1679	1203	42	2	923	2	C11orf84	11	63586445	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	962603	63586445	71420071	33	56871											
KDELC2	143888	broad.mit.edu	37	chr11	108352771	108352771	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	agaggagatcatttgtaacaCcccgcatggcttcaagcatg	12	9	10	10	1	2	2	2	0	0	2	2	3	2	2	2	2	2	4	2	2	2	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr11:108352771C>G	ENST00000434945.2	-	3	997	c.695G>C	c.(694-696)gGt>gCt	p.G232A	KDELC2_ENST00000532730.1_Intron|KDELC2_ENST00000323468.5_Missense_Mutation_p.G288A|KDELC2_ENST00000375648.1_Missense_Mutation_p.G232A			Q7Z4H8	KDEL2_HUMAN	KDEL (Lys-Asp-Glu-Leu) containing 2	288						endoplasmic reticulum lumen				breast(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	13		all_cancers(61;1.38e-11)|all_epithelial(67;3.16e-07)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;6.93e-06)|BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|all cancers(92;0.00016)|OV - Ovarian serous cystadenocarcinoma(223;0.132)|Colorectal(284;0.14)		ATTTGTAACACCCCGCATGGC	0.438													G	108352771	C	G	108352771	3	3	760	1	0	0	0	0	1	0	0	0	8176	507	18	4	680	4	KDELC2	11	108352771	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	44766326	108352771	26653745	34	56872											
MRPS31	10240	broad.mit.edu	37	chr13	41303682	41303682	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccttgttttggaaagctctcCaggtgtttctccagaaatat	9	15	8	9	0	2	1	0	0	2	1	4	2	2	2	3	2	1	3	3	2	3	5			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr13:41303682C>T	ENST00000323563.6	-	7	1050	c.1014G>A	c.(1012-1014)ctG>ctA	p.L338L	MRPS31_ENST00000498078.1_5'UTR	NM_005830.3	NP_005821.2	Q92665	RT31_HUMAN	mitochondrial ribosomal protein S31	338						mitochondrion|ribosome	protein domain specific binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	13		Lung NSC(96;3.55e-06)|Breast(139;0.00394)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(188;0.194)		all cancers(112;1.52e-08)|Epithelial(112;7.63e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000192)|GBM - Glioblastoma multiforme(144;0.00233)|BRCA - Breast invasive adenocarcinoma(63;0.0706)		GAAAGCTCTCCAGGTGTTTCT	0.363													T	41303682	C	T	41303682	2	4	760	1	0	0	0	0	0	0	0	1	9917	581	21	2		2	MRPS31	13	41303682	Silent	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		41303682	73866196	35	56873											
DHRS4	10901	broad.mit.edu	37	chr14	24424420	24424420	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgggagcggctggtggccaCggtgagctgcagggaaatgg	7	5	20	9	3	0	1	0	1	0	0	0	3	0	3	2	7	3	3	2	7	1	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24424420C>T	ENST00000313250.5	+	2	508	c.305C>T	c.(304-306)aCg>aTg	p.T102M	DHRS4_ENST00000308178.8_Splice_Site_p.T84M|DHRS4_ENST00000397075.3_Splice_Site_p.T102M|DHRS4_ENST00000558263.1_Splice_Site_p.T102M|DHRS4_ENST00000421831.1_Splice_Site_p.T84M|DHRS4_ENST00000382761.3_Splice_Site_p.T84M|DHRS4_ENST00000397073.2_Splice_Site_p.T84M|DHRS4_ENST00000558581.1_Splice_Site_p.T102M|DHRS4_ENST00000397074.3_Splice_Site_p.T102M|DHRS4_ENST00000559632.1_Splice_Site_p.T102M|DHRS4_ENST00000543741.2_Splice_Site_p.T102M	NM_021004.2	NP_066284.2	Q9BTZ2	DHRS4_HUMAN	dehydrogenase/reductase (SDR family) member 4	102				T -> M (in Ref. 1; AAD02292).		mitochondrion|nuclear membrane|peroxisome	binding|carbonyl reductase (NADPH) activity	p.T102M(4)		central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14				GBM - Glioblastoma multiforme(265;0.00962)	Vitamin A(DB00162)	CTGGTGGCCACGGTGAGCTGC	0.652													T	24424420	C	T	24424420	5	4	760	1	0	0	0	0	0	0	1	0	4531	550	19	1	311	1	DHRS4	14	24424420	Splice_Site	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08		24424420	82925120	36	56874											
KHNYN	23351	broad.mit.edu	37	chr14	24901559	24901559	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccagccctccacctgcaccGgaacccccatggcactgtgg	7	5	9	20	1	0	0	0	0	0	0	1	1	1	1	7	3	3	2	7	3	1	0			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:24901559G>A	ENST00000251343.5	+	3	1231	c.1092G>A	c.(1090-1092)ccG>ccA	p.P364P	KHNYN_ENST00000553935.1_Silent_p.P364P|KHNYN_ENST00000556842.1_Silent_p.P364P			O15037	KHNYN_HUMAN	KH and NYN domain containing	364								p.P364P(1)		kidney(1)|large_intestine(3)|liver(1)|lung(12)|ovary(3)|pancreas(1)|prostate(3)	24						CACCTGCACCGGAACCCCCAT	0.697											OREG0022627	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	24901559	G	A	24901559	2	1	760	1	0	0	0	0	0	0	0	1	8208	1103	39	1		1	KHNYN	14	24901559	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	477139	24901559	82447981	37	56875											
MDGA2	161357	broad.mit.edu	37	chr14	47315042	47315042	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaatagcaatgtcaccttcTattccaggacctcggatacc	11	11	6	13	1	3	0	2	0	1	0	5	2	4	2	4	2	2	1	4	2	5	5			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:47315042T>C	ENST00000426342.1	-	16	2768	c.2022A>G	c.(2020-2022)atA>atG	p.I674M	MDGA2_ENST00000357362.3_Missense_Mutation_p.I674M|MDGA2_ENST00000399232.2_Missense_Mutation_p.I903M|MDGA2_ENST00000439988.3_Missense_Mutation_p.I972M|MDGA2_ENST00000399222.3_Missense_Mutation_p.I105M	NM_182830.3	NP_878250.2	Q7Z553	MDGA2_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 2	903					spinal cord motor neuron differentiation	anchored to membrane|plasma membrane				breast(3)|endometrium(4)|kidney(2)|large_intestine(14)|lung(41)|ovary(4)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(5)	76						TGTCACCTTCTATTCCAGGAC	0.363													C	47315042	T	C	47315042	3	2	760	1	0	0	0	0	1	0	0	0	9482	1512	53	3	169	3	MDGA2	14	47315042	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	22413483	47315042	60034498	38	56876											
JAG2	3714	broad.mit.edu	37	chr14	105609285	105609285	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgccctgcgcggcggcggcGtgaagttcttgcactggtag	4	8	16	13	6	1	1	0	1	1	0	1	1	1	1	2	4	2	3	2	4	2	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr14:105609285G>A	ENST00000331782.3	-	26	3867	c.3464C>T	c.(3463-3465)aCg>aTg	p.T1155M	JAG2_ENST00000347004.2_Missense_Mutation_p.T1117M	NM_002226.4	NP_002217.3	Q9Y219	JAG2_HUMAN	jagged 2	1155					auditory receptor cell fate commitment|cell communication|cell cycle|Notch receptor processing|Notch signaling pathway|regulation of cell migration|regulation of cell proliferation|spermatogenesis|thymic T cell selection	integral to plasma membrane	calcium ion binding|growth factor activity|Notch binding			breast(2)|endometrium(2)|kidney(3)|large_intestine(1)|lung(7)|prostate(2)|skin(5)	22		all_cancers(154;0.0336)|all_epithelial(191;0.0729)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00989)|all cancers(16;0.0114)|Epithelial(46;0.0272)	Epithelial(152;0.047)|OV - Ovarian serous cystadenocarcinoma(161;0.148)|all cancers(159;0.208)		cggcggcggcgTGAAGTTCTT	0.721													A	105609285	G	A	105609285	3	1	760	1	0	0	0	0	1	0	0	0	7993	1145	40	1	256	1	JAG2	14	105609285	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	58294243	105609285	1740255	39	56877											
HERC2	8924	broad.mit.edu	37	chr15	28375699	28375699	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaacagaaaactgggatccGcattccactttaactactcc	13	9	6	13	1	0	1	0	0	0	1	3	2	3	2	3	1	4	2	3	1	5	4	rs61756151	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr15:28375699G>A	ENST00000261609.7	-	82	12720	c.12612C>T	c.(12610-12612)tgC>tgT	p.C4204C		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	4204					DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		ACTGGGATCCGCATTCCACTT	0.418													A	28375699	G	A	28375699	2	1	760	1	0	0	0	0	0	0	0	1	7113	1079	38	1		1	HERC2	15	28375699	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		28375699	74155693	40	56878											
CACNG3	10368	broad.mit.edu	37	chr16	24372900	24372900	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgaagaaatctacttttGcccgcctcccaccctacagg	9	10	6	16	1	1	2	0	1	1	1	3	2	3	2	5	1	3	0	5	1	4	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:24372900G>T	ENST00000005284.3	+	4	1866	c.664G>T	c.(664-666)Gcc>Tcc	p.A222S		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	222					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)		ATCTACTTTTGCCCGCCTCCC	0.532													T	24372900	G	T	24372900	3	4	760	1	0	0	0	0	1	0	0	0	2584	1319	46	4	678	4	CACNG3	16	24372900	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		24372900	65981853	41	56879											
NLRC5	84166	broad.mit.edu	37	chr16	57110788	57110788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cacctttctgaggctctcagGgctgccaccagcctagagga	8	8	11	14	0	2	2	1	1	2	1	3	3	2	3	4	3	2	2	4	3	1	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr16:57110788G>A	ENST00000262510.6	+	40	5034	c.4809G>A	c.(4807-4809)agG>agA	p.R1603R	NLRC5_ENST00000308149.7_Silent_p.R1574R|NLRC5_ENST00000539144.1_Silent_p.R1574R|NLRC5_ENST00000436936.1_3'UTR	NM_032206.4	NP_115582.4	Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	1603					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AGGCTCTCAGGGCTGCCACCA	0.552													A	57110788	G	A	57110788	2	1	760	1	0	0	0	0	0	0	0	1	10546	1223	43	2		2	NLRC5	16	57110788	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	32737888	57110788	33243965	42	56880											
SLC13A5	284111	broad.mit.edu	37	chr17	6599239	6599239	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttcttgctctctagcccGcagccccaggactttttaaa	7	15	6	13	1	2	0	0	0	2	0	3	1	2	1	3	1	3	2	3	1	3	7	rs148018915		TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr17:6599239G>A	ENST00000433363.2	-	7	1094	c.861C>T	c.(859-861)tgC>tgT	p.C287C	SLC13A5_ENST00000573648.1_Silent_p.C287C|SLC13A5_ENST00000381074.4_Silent_p.C244C|SLC13A5_ENST00000293800.6_Silent_p.C270C	NM_001284510.1|NM_177550.3	NP_001271439.1|NP_808218.1	Q86YT5	S13A5_HUMAN	solute carrier family 13 (sodium-dependent citrate transporter), member 5	287						integral to membrane	citrate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|prostate(5)|skin(3)|urinary_tract(1)	26						TCTCTAGCCCGCAGCCCCAGG	0.547													A	6599239	G	A	6599239	2	1	760	1	0	0	0	0	0	0	0	1	14489	1079	38	1		1	SLC13A5	17	6599239	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		6599239	74595971	43	56881											
TNFSF9	8744	broad.mit.edu	37	chr19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-																															ccttgggccctggtcgcgggGctgctgctgctgctgctgct																										TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768													-	6531151	GCT	-	6531149	7	5	760	1	0	1	0	1	0	0	0	0	16412	1190	42	0	104	0	TNFSF9	19	6531149	In_Frame_Del	DEL	GCT	TCGA-TQ-A7RG-01A-11D-A33T-08		6531149	52597834	44	56882											
TSHZ3	57616	broad.mit.edu	37	chr19	31769127	31769127	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtcactgtgttttccaaggaTttgaggatatcaagcccccc	9	12	9	11	0	2	1	2	1	0	0	3	3	3	3	4	2	1	1	4	2	3	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:31769127T>A	ENST00000240587.4	-	2	1899	c.1572A>T	c.(1570-1572)aaA>aaT	p.K524N		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	524					negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					TTTCCAAGGATTTGAGGATAT	0.507													A	31769127	T	A	31769127	3	1	760	1	0	0	0	0	1	0	0	0	16726	1490	52	5	1677	5	TSHZ3	19	31769127	Missense_Mutation	SNP	T	TCGA-TQ-A7RG-01A-11D-A33T-08	25237978	31769127	27359856	45	56883											
CCDC8	83987	broad.mit.edu	37	chr19	46915066	46915066	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgcagcctcttccctctgAttatctgcagcctctgcccc	4	13	6	18	0	5	1	0	1	5	0	6	1	6	1	5	0	5	2	5	0	1	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr19:46915066A>G	ENST00000307522.3	-	1	1775	c.1002T>C	c.(1000-1002)aaT>aaC	p.N334N		NM_032040.4	NP_114429.2	Q9H0W5	CCDC8_HUMAN	coiled-coil domain containing 8	334						plasma membrane				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	23				OV - Ovarian serous cystadenocarcinoma(262;4.66e-05)|all cancers(93;0.000582)|Epithelial(262;0.00428)|GBM - Glioblastoma multiforme(486;0.0421)		CTTCCCTCTGATTATCTGCAG	0.597													G	46915066	A	G	46915066	2	3	760	1	0	0	0	0	0	0	0	1	2881	330	12	3		3	CCDC8	19	46915066	Silent	SNP	A	TCGA-TQ-A7RG-01A-11D-A33T-08	15145939	46915066	12213917	46	56884											
PHF20	51230	broad.mit.edu	37	chr20	34487400	34487400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggactgtttaaaatttttccGcaaagccaaactgttgcact	12	13	7	9	1	0	0	0	0	0	0	1	1	1	1	2	1	3	4	2	1	4	5			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:34487400G>A	ENST00000374012.3	+	10	1520	c.1391G>A	c.(1390-1392)cGc>cAc	p.R464H	PHF20_ENST00000481202.1_3'UTR|PHF20_ENST00000439301.1_3'UTR			Q9BVI0	PHF20_HUMAN	PHD finger protein 20	464					regulation of transcription, DNA-dependent|transcription, DNA-dependent	MLL1 complex	DNA binding|zinc ion binding			breast(5)|endometrium(1)|kidney(7)|large_intestine(6)|lung(11)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39	Breast(12;0.00631)|all_lung(11;0.0145)					AAATTTTTCCGCAAAGCCAAA	0.428													A	34487400	G	A	34487400	3	1	760	1	0	0	0	0	1	0	0	0	11908	1087	38	1	1425	1	PHF20	20	34487400	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		34487400	28538120	47	56885											
CHD6	84181	broad.mit.edu	37	chr20	40049627	40049627	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cctctggcctttcccccatgCctactgccatggctaagttt	5	13	7	16	0	1	0	0	0	1	0	2	0	2	0	6	2	3	2	6	2	2	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:40049627C>G	ENST00000373233.3	-	31	5825	c.5648G>C	c.(5647-5649)gGc>gCc	p.G1883A		NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	1883					chromatin remodeling|nervous system development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ATP binding|ATP-dependent helicase activity|chromatin binding|DNA binding			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TTCCCCCATGCCTACTGCCAT	0.453													G	40049627	C	G	40049627	3	3	760	1	0	0	0	0	1	0	0	0	3359	739	26	4	2527	4	CHD6	20	40049627	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	5562227	40049627	22975893	48	56886											
ZFP64	55734	broad.mit.edu	37	chr20	50769656	50769656	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggatacgctcgtggatgcGcagggcggccttgctggagc	5	8	18	10	4	0	0	0	0	0	0	1	3	0	3	1	5	4	3	1	5	1	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr20:50769656G>A	ENST00000216923.4	-	6	1424	c.1075C>T	c.(1075-1077)Cgc>Tgc	p.R359C	ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron|ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.R357C|ZFP64_ENST00000346617.4_Missense_Mutation_p.R305C	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	359					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TCGTGGATGCGCAGGGCGGCC	0.597													A	50769656	G	A	50769656	3	1	760	1	0	0	0	0	1	0	0	0	17753	1087	38	1	2165	1	ZFP64	20	50769656	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	10720029	50769656	12255864	49	56887											
TBC1D10A	83874	broad.mit.edu	37	chr22	30688804	30688804	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagctgaatgaggtgttcgcGctcaatctggcgctctgtca	7	11	12	11	3	4	2	2	2	2	0	5	2	4	2	0	2	1	4	0	2	2	1			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:30688804G>C	ENST00000215790.7	-	9	1251	c.1087C>G	c.(1087-1089)Cgc>Ggc	p.R363G	TBC1D10A_ENST00000403362.1_Missense_Mutation_p.R275G|RP1-130H16.18_ENST00000447976.1_Intron|TBC1D10A_ENST00000403477.3_Missense_Mutation_p.R370G	NM_031937.2	NP_114143.1	Q9BXI6	TB10A_HUMAN	TBC1 domain family, member 10A	363						intracellular|microvillus	guanyl-nucleotide exchange factor activity|PDZ domain binding|Rab GTPase activator activity	p.R363S(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						AGGTGTTCGCGCTCAATCTGG	0.637													C	30688804	G	C	30688804	3	2	760	1	0	0	0	0	1	0	0	0	15695	1087	38	4	443	4	TBC1D10A	22	30688804	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08		30688804	20615762	50	56888											
PARVG	64098	broad.mit.edu	37	chr22	44583736	44583736	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaggaggacatgttcgacggGctcatcctacaccacctatt	10	9	10	12	2	1	0	1	0	0	0	3	4	2	2	3	3	1	2	3	3	2	4			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:44583736G>A	ENST00000444313.3	+	5	709	c.225G>A	c.(223-225)ggG>ggA	p.G75G	PARVG_ENST00000415224.1_Silent_p.G75G|PARVG_ENST00000422871.1_Silent_p.G75G	NM_022141.5	NP_071424.1	Q9HBI0	PARVG_HUMAN	parvin, gamma		CH 1.				cell-matrix adhesion	cytoplasm|cytoskeleton|focal adhesion	actin binding			endometrium(2)|kidney(1)|large_intestine(4)|lung(10)	17		Ovarian(80;0.024)|all_neural(38;0.0299)				TGTTCGACGGGCTCATCCTAC	0.627													A	44583736	G	A	44583736	2	1	760	1	0	0	0	0	0	0	0	1	11546	1190	42	2		2	PARVG	22	44583736	Silent	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	13894932	44583736	6720830	51	56889											
KLHDC7B	113730	broad.mit.edu	37	chr22	50988099	50988099	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtaccgcttcgacctgctgCggggcgtgggcgccgccgtg	2	8	17	14	7	0	0	0	0	0	0	1	1	0	0	4	3	3	3	4	3	1	2			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chr22:50988099C>T	ENST00000395676.2	+	1	1638	c.1504C>T	c.(1504-1506)Cgg>Tgg	p.R502W		NM_138433.3	NP_612442.2	Q96G42	KLD7B_HUMAN	kelch domain containing 7B	502										central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	14		all_cancers(38;1.53e-10)|all_epithelial(38;1.82e-09)|Breast(42;0.000448)|all_lung(38;0.000665)|Lung NSC(38;0.0104)|Ovarian(80;0.104)|Lung SC(80;0.162)|Hepatocellular(38;0.178)		OV - Ovarian serous cystadenocarcinoma(4;7.49e-69)|all cancers(3;9.79e-66)|Epithelial(4;1.3e-63)|GBM - Glioblastoma multiforme(4;0.000399)|Lung(4;0.125)|BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		CGACCTGCTGCGGGGCGTGGG	0.697													T	50988099	C	T	50988099	3	4	760	1	0	0	0	0	1	0	0	0	8419	759	27	1	1506	1	KLHDC7B	22	50988099	Missense_Mutation	SNP	C	TCGA-TQ-A7RG-01A-11D-A33T-08	6404363	50988099	316467	52	56890											
CD99L2	83692	broad.mit.edu	37	chrX	149937526	149937528	+	In_Frame_Del	DEL	GGC	GGC	-																															ctcagatccgggctggttcgGgcggcggcggcggctctgca																								rs7877654	byFrequency	TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:149937526_149937528delGGC	ENST00000370377.3	-	11	885_887	c.768_770delGCC	c.(766-771)ccgccc>ccc	p.256_257PP>P	CD99L2_ENST00000466436.1_In_Frame_Del_p.207_208PP>P|CD99L2_ENST00000355149.3_In_Frame_Del_p.184_185PP>P|CD99L2_ENST00000346693.4_5'UTR|CD99L2_ENST00000437787.2_In_Frame_Del_p.183_184PP>P	NM_001242614.1|NM_031462.3	NP_001229543.1|NP_113650.2	Q8TCZ2	C99L2_HUMAN	CD99 molecule-like 2	256	Poly-Pro.				cell adhesion	cell junction|integral to membrane				endometrium(4)|large_intestine(4)|lung(10)|ovary(3)|skin(1)|urinary_tract(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					GGCTGGTTCGGGCGGCGGCGGCG	0.611													-	149937528	GGC	-	149937526	7	5	760	1	0	1	0	1	0	0	0	0	3081	1232	43	0	22	0	CD99L2	23	149937526	In_Frame_Del	DEL	GGC	TCGA-TQ-A7RG-01A-11D-A33T-08		149937526	5333034	53	56891											
L1CAM	3897	broad.mit.edu	37	chrX	153130847	153130847	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtggtaggagctatagggccGcaagccactgaggatgacac	11	6	15	9	1	0	2	0	2	0	0	0	4	0	4	2	4	2	3	2	4	4	3			TCGA-TQ-A7RG-01A-11D-A33T-08	TCGA-TQ-A7RG-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e7ef8640-7181-4ac4-baa3-549e613bda9c	0403a5cd-541a-466c-a7f4-ee68bfd60a19	g.chrX:153130847G>A	ENST00000370060.1	-	21	2845	c.2656C>T	c.(2656-2658)Cgg>Tgg	p.R886W	L1CAM_ENST00000370055.1_Missense_Mutation_p.R881W|L1CAM_ENST00000361981.3_Missense_Mutation_p.R881W|L1CAM_ENST00000538883.1_Missense_Mutation_p.R888W|L1CAM_ENST00000361699.4_Missense_Mutation_p.R886W|L1CAM_ENST00000543994.1_Missense_Mutation_p.R888W|L1CAM_ENST00000370057.3_Missense_Mutation_p.R886W	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	886	Fibronectin type-III 3.				axon guidance|blood coagulation|cell death|leukocyte migration	integral to membrane		p.R886W(1)		NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTATAGGGCCGCAAGCCACTG	0.612													A	153130847	G	A	153130847	3	1	760	1	0	0	0	0	1	0	0	0	8647	1086	38	1	1153	1	L1CAM	23	153130847	Missense_Mutation	SNP	G	TCGA-TQ-A7RG-01A-11D-A33T-08	3193321	153130847	2139713	54	56892											
APOB	338	broad.mit.edu	37	chr2	21236129	21236129	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgctggtgttgccaccactGtaggaggcggaccagttgta	7	10	15	9	1	0	0	0	0	0	0	0	2	0	2	3	4	2	5	3	4	2	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:21236129G>T	ENST00000233242.1	-	25	4246	c.4119C>A	c.(4117-4119)taC>taA	p.Y1373*		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	1373					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TGCCACCACTGTAGGAGGCGG	0.512													T	21236129	G	T	21236129	4	4	761	1	0	0	0	0	0	1	0	0	788	1372	48	4	9592	4	APOB	2	21236129	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		21236129	221963244	1	56893											
SEMA4F	10505	broad.mit.edu	37	chr2	74901641	74901641	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccagggggacctcgggggccGgaagaccctccagcagagat	9	3	16	13	2	0	2	0	0	0	2	2	5	1	4	5	5	1	1	5	5	1	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:74901641G>A	ENST00000357877.2	+	8	988	c.839G>A	c.(838-840)cGg>cAg	p.R280Q	SEMA4F_ENST00000339773.5_Missense_Mutation_p.R125Q	NM_004263.3	NP_004254.2	O95754	SEM4F_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4F	280	Sema.				cell-cell signaling	endoplasmic reticulum|integral to plasma membrane	receptor activity			biliary_tract(1)|breast(2)|endometrium(8)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	45						CTCGGGGGCCGGAAGACCCTC	0.562													A	74901641	G	A	74901641	3	1	761	1	0	0	0	0	1	0	0	0	14128	1116	39	1	869	1	SEMA4F	2	74901641	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	53665512	74901641	168297732	2	56894											
SLC39A10	57181	broad.mit.edu	37	chr2	196582986	196582986	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcttcctcaggtgcagctttCagtgctggattgacaggagg	7	12	13	9	0	3	1	2	1	1	0	4	3	4	3	1	4	3	3	1	4	0	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:196582986C>T	ENST00000409086.3	+	8	2351	c.2076C>T	c.(2074-2076)ttC>ttT	p.F692F	SLC39A10_ENST00000359634.5_Silent_p.F692F|SLC39A10_ENST00000541054.1_Silent_p.F242F	NM_001127257.1	NP_001120729.1	Q9ULF5	S39AA_HUMAN	solute carrier family 39 (zinc transporter), member 10	692					zinc ion transport	integral to membrane	metal ion transmembrane transporter activity			breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|liver(1)|lung(16)|pancreas(1)|prostate(1)|skin(2)	34			OV - Ovarian serous cystadenocarcinoma(117;0.221)			GTGCAGCTTTCAGTGCTGGAT	0.363													T	196582986	C	T	196582986	2	4	761	1	0	0	0	0	0	0	0	1	14707	825	29	2		2	SLC39A10	2	196582986	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	121681345	196582986	46616387	3	56895											
STRADB	55437	broad.mit.edu	37	chr2	202323545	202323545	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaacacaagttgaatcactCagacctgaaaaacagtctga	18	7	7	9	0	3	5	2	3	1	2	3	5	3	5	1	0	2	1	1	0	5	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr2:202323545C>A	ENST00000194530.3	+	3	416	c.51C>A	c.(49-51)ctC>ctA	p.L17L	STRADB_ENST00000392249.2_Silent_p.L17L|STRADB_ENST00000488196.1_3'UTR	NM_001206864.1|NM_018571.5	NP_001193793.1|NP_061041.2	Q9C0K7	STRAB_HUMAN	STE20-related kinase adaptor beta	17					activation of protein kinase activity|cell cycle arrest|insulin receptor signaling pathway|protein export from nucleus|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|protein binding|protein kinase activity			breast(1)|large_intestine(2)|lung(5)|prostate(1)|skin(3)|stomach(1)	13						TTGAATCACTCAGACCTGAAA	0.408													A	202323545	C	A	202323545	2	1	761	1	0	0	0	0	0	0	0	1	15421	813	29	4		4	STRADB	2	202323545	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	5740559	202323545	40875828	4	56896											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	761	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	6789567	209113112	34086261	5	56897											
CCR8	1237	broad.mit.edu	37	chr3	39373836	39373836	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgccttgatggattatacacTtgacctcagtgtgacaacag	11	12	9	9	0	1	3	1	3	0	0	1	4	1	4	2	1	3	0	2	1	3	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:39373836T>C	ENST00000326306.4	+	2	152	c.14T>C	c.(13-15)cTt>cCt	p.L5P	CCR8_ENST00000545843.1_5'UTR|CCR8_ENST00000414803.1_Missense_Mutation_p.L5P	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	5					cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		GATTATACACTTGACCTCAGT	0.413													C	39373836	T	C	39373836	3	2	761	1	0	0	0	0	1	0	0	0	2977	1609	56	3	16	3	CCR8	3	39373836	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08		39373836	158648594	6	56898											
IP6K2	51447	broad.mit.edu	37	chr3	48725944	48725944	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtcctccaaatcctcagcaTctgagtccaggaccacttcg	9	9	8	15	1	2	1	1	1	1	0	7	2	6	2	5	2	1	1	5	2	1	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:48725944T>C	ENST00000328631.5	-	6	1266	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G		NM_001005909.2|NM_016291.3	NP_001005909.1|NP_057375.2	Q9UHH9	IP6K2_HUMAN	inositol hexakisphosphate kinase 2	348					negative regulation of cell growth|phosphatidylinositol phosphorylation|positive regulation of apoptosis|type I interferon-mediated signaling pathway	intermediate filament cytoskeleton|nucleus	ATP binding|inositol hexakisphosphate 5-kinase activity|inositol trisphosphate 3-kinase activity			biliary_tract(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	15						ATCCTCAGCATCTGAGTCCAG	0.557													C	48725944	T	C	48725944	3	2	761	1	0	0	0	0	1	0	0	0	7847	1435	50	3	241	3	IP6K2	3	48725944	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	9352108	48725944	149296486	7	56899											
OR5K1	26339	broad.mit.edu	37	chr3	98188566	98188566	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tattagtttggtggcactgaTatttacacaccgtcggcttc	8	15	9	9	2	0	1	0	1	0	0	2	1	0	1	1	3	1	3	1	3	4	7			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:98188566T>C	ENST00000332650.5	+	1	243	c.146T>C	c.(145-147)aTa>aCa	p.I49T		NM_001004736.2	NP_001004736.2	Q8NHB7	OR5K1_HUMAN	olfactory receptor, family 5, subfamily K, member 1	49					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|large_intestine(4)|lung(21)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GTGGCACTGATATTTACACAC	0.458													C	98188566	T	C	98188566	3	2	761	1	0	0	0	0	1	0	0	0	11242	1406	49	3	148	3	OR5K1	3	98188566	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	49462622	98188566	99833864	8	56900											
CLSTN2	64084	broad.mit.edu	37	chr3	140281990	140281990	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	catctgattgtgcagcctccCttcctccagtctgtccatca	6	13	6	16	0	3	1	1	1	2	0	7	1	7	1	5	0	2	1	5	0	0	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr3:140281990C>T	ENST00000458420.3	+	15	2617	c.2427C>T	c.(2425-2427)ccC>ccT	p.P809P		NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	809					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCAGCCTCCCTTCCTCCAGT	0.542										HNSCC(16;0.037)			T	140281990	C	T	140281990	2	4	761	1	0	0	0	0	0	0	0	1	3593	668	24	2		2	CLSTN2	3	140281990	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	42093424	140281990	57740440	9	56901											
ZNF518B	85460	broad.mit.edu	37	chr4	10445137	10445137	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacaatgactggctggttcCgacggggacacttaatcaac	12	8	10	11	2	1	1	1	1	0	0	2	3	2	2	1	4	1	2	1	4	3	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:10445137C>G	ENST00000326756.3	-	3	3254	c.2816G>C	c.(2815-2817)cGg>cCg	p.R939P		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	939					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						TGGCTGGTTCCGACGGGGACA	0.448													G	10445137	C	G	10445137	3	3	761	1	0	0	0	0	1	0	0	0	18064	652	23	4	412	4	ZNF518B	4	10445137	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		10445137	180709139	10	56902											
SEL1L3	23231	broad.mit.edu	37	chr4	25836841	25836841	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtaatccatcctctggcGtcgagtggcctccagctctc	5	11	11	14	2	2	0	0	0	2	0	7	1	5	0	4	3	1	2	4	3	1	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr4:25836841G>A	ENST00000399878.3	-	3	960	c.838C>T	c.(838-840)Cgc>Tgc	p.R280C	SEL1L3_ENST00000502949.1_Missense_Mutation_p.R127C|SEL1L3_ENST00000264868.5_Missense_Mutation_p.R245C|SEL1L3_ENST00000513364.1_5'UTR	NM_015187.3	NP_056002.2	Q68CR1	SE1L3_HUMAN	sel-1 suppressor of lin-12-like 3 (C. elegans)	280						integral to membrane	binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|urinary_tract(2)	14						ATCCTCTGGCGTCGAGTGGCC	0.537													A	25836841	G	A	25836841	3	1	761	1	0	0	0	0	1	0	0	0	14105	1145	40	1	2648	1	SEL1L3	4	25836841	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	15391704	25836841	165317435	11	56903											
RIPK1	8737	broad.mit.edu	37	chr6	3083466	3083466	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcacctgaatgacgtcaacGcaaagcccacagagaagtcg	15	4	10	12	3	1	3	1	2	0	1	2	4	1	3	2	0	3	2	2	0	4	0	rs149432620	byFrequency	TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:3083466G>A	ENST00000259808.4	+	5	905	c.607G>A	c.(607-609)Gca>Aca	p.A203T	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000541791.1_Missense_Mutation_p.A157T|RIPK1_ENST00000380409.2_Missense_Mutation_p.A203T			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	203	Protein kinase.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				TGACGTCAACGCAAAGCCCAC	0.488													A	3083466	G	A	3083466	3	1	761	1	0	0	0	0	1	0	0	0	13471	1087	38	1	621	1	RIPK1	6	3083466	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		3083466	168031601	12	56904											
HIST1H2BE	8344	broad.mit.edu	37	chr6	26184184	26184184	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acaggtccaccccgacaccgGcatctcctctaaagccatgg	10	6	8	17	2	2	0	0	0	2	0	4	1	3	0	6	3	1	1	6	3	2	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:26184184G>A	ENST00000356530.3	+	1	227	c.161G>A	c.(160-162)gGc>gAc	p.G54D		NM_003523.2	NP_003514.2	P62807	H2B1C_HUMAN	histone cluster 1, H2be	54					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			endometrium(1)|large_intestine(2)|lung(1)	4						CCCGACACCGGCATCTCCTCT	0.577													A	26184184	G	A	26184184	3	1	761	1	0	0	0	0	1	0	0	0	7199	1203	42	2	163	2	HIST1H2BE	6	26184184	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	23100718	26184184	144930883	13	56905											
DST	667	broad.mit.edu	37	chr6	56418203	56418203	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaggctgccttctcagacccTtgtgtttttaataacagatt	10	15	7	9	0	1	2	1	0	1	2	2	2	1	2	2	1	2	2	2	1	3	7			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:56418203T>A	ENST00000370754.5	-	61	15293	c.15294A>T	c.(15292-15294)caA>caT	p.Q5098H	DST_ENST00000421834.2_Missense_Mutation_p.Q2832H|DST_ENST00000370788.2_Missense_Mutation_p.Q2832H|DST_ENST00000370769.4_Missense_Mutation_p.Q4920H|DST_ENST00000446842.2_Missense_Mutation_p.Q4594H|DST_ENST00000312431.6_3'UTR|DST_ENST00000361203.3_Missense_Mutation_p.Q4918H|DST_ENST00000244364.6_Missense_Mutation_p.Q2506H			Q03001	DYST_HUMAN	dystonin	4918					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCTCAGACCCTTGTGTTTTTA	0.318													A	56418203	T	A	56418203	3	1	761	1	0	0	0	0	1	0	0	0	4822	1606	56	5	8169	5	DST	6	56418203	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	30234019	56418203	114696864	14	56906											
LAMA2	3908	broad.mit.edu	37	chr6	129419488	129419488	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatccccgcactgggccaccGtcatatgccaaagatgatga	11	8	9	13	2	1	3	1	2	0	1	2	3	2	3	5	1	1	1	5	1	3	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr6:129419488G>A	ENST00000421865.2	+	4	616	c.567G>A	c.(565-567)ccG>ccA	p.P189P		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	189	Laminin N-terminal.				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		CTGGGCCACCGTCATATGCCA	0.448													A	129419488	G	A	129419488	2	1	761	1	0	0	0	0	0	0	0	1	8665	1132	40	1		1	LAMA2	6	129419488	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	73001285	129419488	41695579	15	56907											
HOXA11	3207	broad.mit.edu	37	chr7	27222531	27222531	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atcagtgaggttgagcatgcGggacagttgcaggcgcttct	8	10	15	8	2	2	2	1	2	1	0	2	3	2	3	0	3	3	5	0	3	0	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:27222531G>A	ENST00000006015.3	-	2	897	c.826C>T	c.(826-828)Cgc>Tgc	p.R276C		NM_005523.5	NP_005514.1	P31270	HXA11_HUMAN	homeobox A11	276					branching involved in ureteric bud morphogenesis|cartilage development involved in endochondral bone morphogenesis|developmental growth|dorsal/ventral pattern formation|mesodermal cell fate specification|positive regulation of cell development|positive regulation of chondrocyte differentiation	protein-DNA complex|transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	p.R276S(1)		NS(1)|breast(1)|endometrium(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	16						TTGAGCATGCGGGACAGTTGC	0.458			T	NUP98	CML								A	27222531	G	A	27222531	3	1	761	1	0	0	0	0	1	0	0	0	7345	1116	39	1	119	1	HOXA11	7	27222531	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		27222531	131916132	16	56908											
IKZF1	10320	broad.mit.edu	37	chr7	50455076	50455076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caaatgtggatattgtggccGaagctataaacagcgaagct	14	9	11	7	2	0	0	0	0	0	0	0	3	0	1	1	2	4	2	1	2	7	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:50455076G>A	ENST00000331340.3	+	6	778	c.623G>A	c.(622-624)cGa>cAa	p.R208Q	IKZF1_ENST00000349824.4_Intron|IKZF1_ENST00000438033.1_Missense_Mutation_p.R121Q|IKZF1_ENST00000346667.4_Intron|IKZF1_ENST00000359197.5_Intron|IKZF1_ENST00000357364.4_Intron|IKZF1_ENST00000440768.2_Intron|IKZF1_ENST00000343574.5_Missense_Mutation_p.R121Q|IKZF1_ENST00000439701.1_Intron	NM_001220769.1|NM_001220772.1|NM_001220773.1|NM_001220775.1|NM_006060.4	NP_001207698.1|NP_001207701.1|NP_001207702.1|NP_001207704.1|NP_006051.1	Q13422	IKZF1_HUMAN	IKAROS family zinc finger 1 (Ikaros)	208					cell cycle|chromatin modification|mesoderm development	cytoplasm|nucleus	zinc ion binding	p.?(131)		haematopoietic_and_lymphoid_tissue(275)|lung(1)	276	Glioma(55;0.08)|all_neural(89;0.245)	Acute lymphoblastic leukemia(4;7.29e-10)|all_hematologic(4;4.8e-07)				TATTGTGGCCGAAGCTATAAA	0.473			"D,T"	BCL6	"ALL, DLBCL"								A	50455076	G	A	50455076	3	1	761	1	0	0	0	0	1	0	0	0	7672	1058	37	1	641	1	IKZF1	7	50455076	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	23232545	50455076	108683587	17	56909											
FBXL13	222235	broad.mit.edu	37	chr7	102604004	102604004	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agatctgaaagttttgggtcGgagaagacaaccacgaaaat	16	8	11	6	2	1	4	0	1	1	3	2	6	1	4	1	2	1	1	1	2	5	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:102604004G>A	ENST00000393772.2	-	8	1126	c.700C>T	c.(700-702)Cga>Tga	p.R234*	FBXL13_ENST00000456695.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000471074.1_5'UTR|FBXL13_ENST00000379308.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000436908.1_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379306.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000379305.3_Nonsense_Mutation_p.R234*|FBXL13_ENST00000313221.4_Nonsense_Mutation_p.R234*|FBXL13_ENST00000455112.2_Nonsense_Mutation_p.R234*			Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	234										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						GTTTTGGGTCGGAGAAGACAA	0.338													A	102604004	G	A	102604004	4	1	761	1	0	0	0	0	0	1	0	0	5758	1124	39	1	1559	1	FBXL13	7	102604004	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	52148928	102604004	56534659	18	56910											
GSTK1	373156	broad.mit.edu	37	chr7	142965221	142965221	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	caccgtggcccatgtggatgGccaaacccacatgttatttg	9	10	10	12	1	0	0	0	0	0	0	0	1	0	1	4	3	1	1	4	3	2	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:142965221G>A	ENST00000479303.1	+	6	801	c.743G>A	c.(742-744)gGc>gAc	p.G248D	GSTK1_ENST00000409500.3_Missense_Mutation_p.G180D|GSTK1_ENST00000358406.5_Missense_Mutation_p.G192D|AC073342.12_ENST00000427392.1_RNA|GSTK1_ENST00000443571.2_Missense_Mutation_p.G149D	NM_001143679.1	NP_001137151.1	Q9Y2Q3	GSTK1_HUMAN	glutathione S-transferase kappa 1	192						outer membrane-bounded periplasmic space|peroxisome	glutathione transferase activity|identical protein binding|protein disulfide oxidoreductase activity			lung(4)	4	Melanoma(164;0.059)				Glutathione(DB00143)	CATGTGGATGGCCAAACCCAC	0.547													A	142965221	G	A	142965221	3	1	761	1	0	0	0	0	1	0	0	0	6891	1203	42	2	765	2	GSTK1	7	142965221	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	40361217	142965221	16173442	19	56911											
OR2F2	135948	broad.mit.edu	37	chr7	143632509	143632509	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccacactcccatgtatttcTttctcaccaacctctccctt	7	15	1	18	0	3	0	1	0	3	0	7	0	5	0	5	0	1	1	5	0	2	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143632509T>C	ENST00000408955.2	+	1	251	c.184T>C	c.(184-186)Ttt>Ctt	p.F62L		NM_001004685.1	NP_001004685.1	O95006	OR2F2_HUMAN	olfactory receptor, family 2, subfamily F, member 2	62					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.F62L(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(19)|ovary(3)|skin(2)|stomach(1)|urinary_tract(1)	32	Melanoma(164;0.0903)					CATGTATTTCTTTCTCACCAA	0.502													C	143632509	T	C	143632509	3	2	761	1	0	0	0	0	1	0	0	0	11073	1609	56	3	186	3	OR2F2	7	143632509	Missense_Mutation	SNP	T	TCGA-TQ-A7RH-01A-12D-A34A-08	667288	143632509	15506154	20	56912											
OR2A7	401427	broad.mit.edu	37	chr7	143956629	143956629	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agggtgaagacgtagaacagGgagaagagcccaaagaggag	17	2	17	5	1	0	6	0	1	0	5	0	8	0	7	1	3	2	1	1	3	5	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:143956629G>A	ENST00000493325.1	-	1	186	c.93C>T	c.(91-93)tcC>tcT	p.S31S	OR2A1-AS1_ENST00000461843.1_RNA|OR2A1-AS1_ENST00000489488.1_RNA|RP4-545C24.1_ENST00000460955.1_RNA|OR2A1-AS1_ENST00000463561.1_RNA|OR2A1-AS1_ENST00000478806.1_RNA|OR2A1-AS1_ENST00000476560.1_RNA|ARHGEF35_ENST00000543357.1_Intron|OR2A1-AS1_ENST00000487102.1_RNA	NM_001005328.1	NP_001005328.1	Q96R45	OR2A7_HUMAN	olfactory receptor, family 2, subfamily A, member 7	31					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|large_intestine(1)|lung(3)|ovary(1)	6	Melanoma(164;0.14)					CGTAGAACAGGGAGAAGAGCC	0.537													A	143956629	G	A	143956629	2	1	761	1	0	0	0	0	0	0	0	1	11058	1219	43	2		2	OR2A7	7	143956629	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	324120	143956629	15182034	21	56913											
SSPO	23145	broad.mit.edu	37	chr7	149489293	149489293	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gattggccctgcggcagcccGggtaagggggctctgggccc	4	6	18	13	2	1	0	0	0	1	0	1	1	1	0	3	6	2	3	3	6	1	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr7:149489293G>A	ENST00000378016.2	+	0	5538							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GCGGCAGCCCGGGTAAGGGGG	0.672													A	149489293	G	A	149489293	1	1	761	0	1	0	0	0	0	0	0	0	15285	1130	39	1		1	SSPO	7	149489293	RNA	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	5532664	149489293	9649370	22	56914											
SGK223	157285	broad.mit.edu	37	chr8	8185589	8185589	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggccagggctcccgcagccGcctctgttgcccgccagccc	4	5	12	20	3	1	0	0	0	1	0	2	0	2	0	7	2	3	3	7	2	0	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:8185589G>A	ENST00000520004.1	-	5	2967	c.2703C>T	c.(2701-2703)ggC>ggT	p.G901G	SGK223_ENST00000330777.4_Silent_p.G901G			Q86YV5	SG223_HUMAN		901							ATP binding|non-membrane spanning protein tyrosine kinase activity										TCCCGCAGCCGCCTCTGTTGC	0.657													A	8185589	G	A	8185589	2	1	761	1	0	0	0	0	0	0	0	1	14303	1074	38	1		1	SGK223	8	8185589	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		8185589	138178433	23	56915											
CTSB	1508	broad.mit.edu	37	chr8	11705211	11705211	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agtgcttgtcctgtttgtagGtcgggctgtagccaggctca	5	13	14	9	1	1	0	1	0	0	0	3	0	2	0	2	3	2	6	2	3	2	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:11705211G>A	ENST00000353047.6	-	7	906	c.653C>T	c.(652-654)aCc>aTc	p.T218I	CTSB_ENST00000415599.2_3'UTR|CTSB_ENST00000453527.2_Missense_Mutation_p.T218I|CTSB_ENST00000530640.2_Missense_Mutation_p.T218I|CTSB_ENST00000533455.1_Missense_Mutation_p.T218I|CTSB_ENST00000345125.3_Missense_Mutation_p.T218I|CTSB_ENST00000434271.1_Missense_Mutation_p.T218I|CTSB_ENST00000531089.1_Missense_Mutation_p.T218I|CTSB_ENST00000534510.1_Missense_Mutation_p.T218I	NM_001908.3	NP_001899.1	P07858	CATB_HUMAN	cathepsin B	218					proteolysis|regulation of apoptosis|regulation of catalytic activity	lysosome|melanosome	cysteine-type endopeptidase activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(1)	16	all_epithelial(15;0.205)		STAD - Stomach adenocarcinoma(15;0.00546)	COAD - Colon adenocarcinoma(149;0.184)		CTGTTTGTAGGTCGGGCTGTA	0.657													A	11705211	G	A	11705211	3	1	761	1	0	0	0	0	1	0	0	0	4063	1261	44	2	382	2	CTSB	8	11705211	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	3519622	11705211	134658811	24	56916											
CYHR1	50626	broad.mit.edu	37	chr8	145690245	145690245	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactcccagcaccagatgggAcagggctgtgctccactcgg	8	6	12	15	1	0	1	0	0	0	1	3	2	2	2	3	3	2	3	3	3	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr8:145690245A>C	ENST00000438911.2	-	1	173	c.40T>G	c.(40-42)Tcc>Gcc	p.S14A	CTD-2517M22.16_ENST00000525461.1_RNA|CYHR1_ENST00000424149.2_Missense_Mutation_p.S14A|CYHR1_ENST00000403000.2_Missense_Mutation_p.S14A|CYHR1_ENST00000306145.5_Missense_Mutation_p.S14A	NM_138496.1	NP_612505.1	Q6ZMK1	CYHR1_HUMAN	cysteine/histidine-rich 1	14						perinuclear region of cytoplasm	zinc ion binding			haematopoietic_and_lymphoid_tissue(2)|lung(3)|ovary(2)	7	all_cancers(97;4.61e-11)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.08e-41)|Epithelial(56;8.67e-41)|all cancers(56;1.1e-35)|BRCA - Breast invasive adenocarcinoma(115;0.035)|Colorectal(110;0.055)			ACCAGATGGGACAGGGCTGTG	0.622													C	145690245	A	C	145690245	3	2	761	1	0	0	0	0	1	0	0	0	4173	275	10	5	1401	5	CYHR1	8	145690245	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	133985034	145690245	673777	25	56917											
CDKN2A	1029	broad.mit.edu	37	chr9	21971029	21971029	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccacgggcagacggcccCaggcatcgcgcacgtccagc	7	3	14	17	5	0	1	0	0	0	1	3	1	2	1	4	4	1	3	4	4	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:21971029C>T	ENST00000304494.5	-	2	599	c.329G>A	c.(328-330)tGg>tAg	p.W110*	RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000361570.3_Silent_p.L165L|CDKN2A_ENST00000498628.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000479692.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000579755.1_Silent_p.L124L|CDKN2A_ENST00000530628.2_Silent_p.L124L|CDKN2A_ENST00000578845.2_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000494262.1_Nonsense_Mutation_p.W59*|CDKN2A_ENST00000498124.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000579122.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000446177.1_Nonsense_Mutation_p.W110*|CDKN2A_ENST00000497750.1_Nonsense_Mutation_p.W59*	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	110					cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(1315)|p.?(44)|p.W110*(13)|p.L165L(2)|p.H83fs*2(2)|p.D105fs*8(1)|p.0(1)|p.A68fs*3(1)|p.R107fs*33(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		CAGACGGCCCCAGGCATCGCG	0.731		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21971029	C	T	21971029	4	4	761	1	0	0	0	0	0	1	0	0	3191	595	21	2	149	2	CDKN2A	9	21971029	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		21971029	119242402	26	56918											
NOL8	55035	broad.mit.edu	37	chr9	95081532	95081532	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggcacttctgtccctggcaCagctttcatatggaaatcca	9	12	8	12	0	2	0	1	0	1	0	4	1	4	1	2	3	1	3	2	3	2	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:95081532C>T	ENST00000545558.1	-	5	880	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	NOL8_ENST00000358855.4_Missense_Mutation_p.V62M|NOL8_ENST00000535387.1_Missense_Mutation_p.V130M|NOL8_ENST00000442668.2_Missense_Mutation_p.V130M|NOL8_ENST00000542053.1_Missense_Mutation_p.V62M			Q76FK4	NOL8_HUMAN	nucleolar protein 8	130					DNA replication|positive regulation of cell growth	nucleolus	nucleotide binding|protein binding|RNA binding			endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						GTCCCTGGCACAGCTTTCATA	0.468													T	95081532	C	T	95081532	3	4	761	1	0	0	0	0	1	0	0	0	10603	478	17	2	3167	2	NOL8	9	95081532	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	73110503	95081532	46131899	27	56919											
PRDM12	59335	broad.mit.edu	37	chr9	133553963	133553963	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtggtacggaaactcacaCaacaccttcctggggatccc	10	8	10	13	1	1	0	1	0	0	0	3	2	3	2	3	4	3	1	3	4	3	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133553963C>A	ENST00000253008.2	+	4	678	c.618C>A	c.(616-618)caC>caA	p.H206Q		NM_021619.2	NP_067632.2	Q9H4Q4	PRD12_HUMAN	PR domain containing 12	206	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	11		all_hematologic(13;0.0433)|Acute lymphoblastic leukemia(5;0.0534)		OV - Ovarian serous cystadenocarcinoma(145;0.000344)		GAAACTCACACAACACCTTCC	0.592													A	133553963	C	A	133553963	3	1	761	1	0	0	0	0	1	0	0	0	12539	477	17	4	632	4	PRDM12	9	133553963	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	38472431	133553963	7659468	28	56920											
LAMC3	10319	broad.mit.edu	37	chr9	133884973	133884973	+	Splice_Site	DEL	A	A	-																															gtcaacatcaccctccgcctAggtaagcgcgggctgggggc																								rs35774154		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr9:133884973delA	ENST00000361069.4	+	1	505	c.372delA	c.(370-372)cta>ct	p.L124fs	LAMC3_ENST00000480883.1_3'UTR	NM_006059.3	NP_006050.3	Q9Y6N6	LAMC3_HUMAN	laminin, gamma 3	124	Laminin N-terminal.				cell adhesion	basement membrane|membrane	structural molecule activity			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(31)|ovary(3)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	69	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;5.06e-05)|Epithelial(140;0.000551)		CCCTCCGCCTAGGTAAGCGCG	0.687													-	133884973	A	-	133884973	8	5	761	1	0	1	0	1	0	0	1	0	8675	434	15	0	374	0	LAMC3	9	133884973	Splice_Site	DEL	A	TCGA-TQ-A7RH-01A-12D-A34A-08	331010	133884973	7328458	29	56921											
CDC123	8872	broad.mit.edu	37	chr10	12238281	12238281	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcttcactgccagttctccGcgtggtacccgttcttccga	4	13	9	15	4	3	0	1	0	2	0	5	1	4	0	4	1	3	4	4	1	1	5			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:12238281G>C	ENST00000281141.4	+	1	317	c.37G>C	c.(37-39)Gcg>Ccg	p.A13P	CDC123_ENST00000455773.3_3'UTR|CDC123_ENST00000378900.2_Missense_Mutation_p.A13P	NM_006023.2	NP_006014.2	O75794	CD123_HUMAN	cell division cycle 123	13					cell cycle arrest|cell division|positive regulation of cell proliferation|regulation of mitotic cell cycle	cytoplasm				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|upper_aerodigestive_tract(1)	12						CCAGTTCTCCGCGTGGTACCC	0.622													C	12238281	G	C	12238281	3	2	761	1	0	0	0	0	1	0	0	0	3085	1087	38	4	39	4	CDC123	10	12238281	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		12238281	123296466	30	56922											
TMEM26	219623	broad.mit.edu	37	chr10	63170316	63170316	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caccacgaggaagttcttcgCggcaaagaacaccagcatct	13	6	9	13	3	2	1	0	0	2	1	3	3	2	2	2	2	2	3	2	2	3	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:63170316C>T	ENST00000399298.3	-	6	1239	c.871G>A	c.(871-873)Gcg>Acg	p.A291T	TMEM26_ENST00000507507.1_5'UTR	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	291						integral to membrane				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AAGTTCTTCGCGGCAAAGAAC	0.512													T	63170316	C	T	63170316	3	4	761	1	0	0	0	0	1	0	0	0	16251	768	27	1	239	1	TMEM26	10	63170316	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	50932035	63170316	72364431	31	56923											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052006	81052026	+	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	GCAGCAGCGGCAGTGGCAGCA	-																															ctcagcccgcggcagccgctGcagcagcggcagtggcagca																										TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:81052006_81052026delGCAGCAGCGGCAGTGGCAGCA	ENST00000334512.5	+	11	1422_1442	c.850_870delGCAGCAGCGGCAGTGGCAGCA	c.(850-870)gcagcagcggcagtggcagcadel	p.AAAAVAA284del	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	284	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			ggcagccgctgcagcagcggcagtggcagcagcagcagcCA	0.652													-	81052026	GCAGCAGCGGCAGTGGCAGCA	-	81052006	7	5	761	1	0	1	0	1	0	0	0	0	17797	1319	46	0	876	0	ZMIZ1	10	81052006	In_Frame_Del	DEL	GCAGCAGCGGCAGTGGCAGCA	TCGA-TQ-A7RH-01A-12D-A34A-08	17881690	81052006	54482741	32	56924											
FAM178A	55719	broad.mit.edu	37	chr10	102698451	102698451	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tgattttagatctttgtttcCcctggagaatcttcagccag	8	16	8	9	0	3	3	1	1	2	2	4	4	4	3	3	1	1	1	3	1	2	5			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:102698451C>T	ENST00000238961.4	+	11	3154	c.2612C>T	c.(2611-2613)cCc>cTc	p.P871L	FAM178A_ENST00000370269.3_Missense_Mutation_p.P871L	NM_018121.3	NP_060591.3	Q8IX21	F178A_HUMAN	family with sequence similarity 178, member A																		TCTTTGTTTCCCCTGGAGAAT	0.368													T	102698451	C	T	102698451	3	4	761	1	0	0	0	0	1	0	0	0	5548	623	22	2	2654	2	FAM178A	10	102698451	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	21646445	102698451	32836296	33	56925											
DCLRE1A	9937	broad.mit.edu	37	chr10	115609945	115609945	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcgatatcatgagtgtcttCatcactttgaagtggagaat	12	14	9	6	1	4	3	3	2	1	1	5	5	4	3	0	1	0	0	0	1	3	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:115609945C>A	ENST00000361384.2	-	2	1836	c.919G>T	c.(919-921)Gaa>Taa	p.E307*	DCLRE1A_ENST00000369305.1_Nonsense_Mutation_p.E307*	NM_014881.3	NP_055696.3	Q6PJP8	DCR1A_HUMAN	DNA cross-link repair 1A	307					cell division|mitosis	nucleus	hydrolase activity	p.E307*(1)		breast(2)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(8)|prostate(1)|skin(2)|urinary_tract(1)	31				Epithelial(162;0.0157)|all cancers(201;0.0171)		TGAGTGTCTTCATCACTTTGA	0.398								Other identified genes with known or suspected DNA repair function					A	115609945	C	A	115609945	4	1	761	1	0	0	0	0	0	1	0	0	4328	835	29	4	2235	4	DCLRE1A	10	115609945	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	12911494	115609945	19924802	34	56926											
CYP2E1	1571	broad.mit.edu	37	chr10	135352317	135352317	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgctggagaaggcctggctcGcatggagttgtttcttttgt	5	15	14	7	1	1	1	0	0	1	1	2	3	1	2	1	4	1	5	1	4	1	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr10:135352317G>A	ENST00000463117.2	+	11	1603	c.1331G>A	c.(1330-1332)cGc>cAc	p.R444H	CYP2E1_ENST00000252945.3_Missense_Mutation_p.R444H|SPRN_ENST00000541506.1_Intron			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	444					drug metabolic process|heterocycle metabolic process|monoterpenoid metabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	electron carrier activity|enzyme binding|heme binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NADH or NADPH as one donor, and incorporation of one atom of oxygen|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen|oxygen binding			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Chlorzoxazone(DB00356)|Cinnarizine(DB00568)|Clofibrate(DB00636)|Dacarbazine(DB00851)|Dapsone(DB00250)|Enflurane(DB00228)|Eszopiclone(DB00402)|Ethanol(DB00898)|Ethosuximide(DB00593)|Fomepizole(DB01213)|Glutathione(DB00143)|Halothane(DB01159)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Isoniazid(DB00951)|Menadione(DB00170)|Mephenytoin(DB00532)|Methoxyflurane(DB01028)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicotine(DB00184)|Nifedipine(DB01115)|Nitrofurantoin(DB00698)|Orphenadrine(DB01173)|Phenelzine(DB00780)|Quinidine(DB00908)|S-Adenosylmethionine(DB00118)|Sevoflurane(DB01236)|Theophylline(DB00277)|Tolbutamide(DB01124)	GGCCTGGCTCGCATGGAGTTG	0.448									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of				A	135352317	G	A	135352317	3	1	761	1	0	0	0	0	1	0	0	0	4203	1087	38	1	1365	1	CYP2E1	10	135352317	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	19742372	135352317	182430	35	56927											
OR51S1	119692	broad.mit.edu	37	chr11	4869860	4869860	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcttctgggcaggccaaacgAgccacatctggatgcaagca	11	6	12	12	1	2	0	0	0	2	0	2	2	2	1	2	3	4	4	2	3	2	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:4869860A>T	ENST00000322101.2	-	1	654	c.579T>A	c.(577-579)gcT>gcA	p.A193A	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001004758.1	NP_001004758.1	Q8NGJ8	O51S1_HUMAN	olfactory receptor, family 51, subfamily S, member 1	193					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(3)|lung(15)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	33		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGGCCAAACGAGCCACATCTG	0.557													T	4869860	A	T	4869860	2	4	761	1	0	0	0	0	0	0	0	1	11181	291	11	5		5	OR51S1	11	4869860	Silent	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08		4869860	130136656	36	56928											
OR4A16	81327	broad.mit.edu	37	chr11	55111566	55111566	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agagatgaaaaatgctatgaAaaatctctggtgtgaaaagt	18	10	10	3	0	1	4	0	3	1	1	2	5	1	4	0	1	1	1	0	1	7	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111566A>G	ENST00000314721.2	+	1	940	c.890A>G	c.(889-891)aAa>aGa	p.K297R		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	297					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						AATGCTATGAAAAATCTCTGG	0.313													G	55111566	A	G	55111566	3	3	761	1	0	0	0	0	1	0	0	0	11117	14	1	3	892	3	OR4A16	11	55111566	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	50241706	55111566	79894950	37	56929			1	92		2	2	40	N	G_A	8.314483e-05
OR4A16	81327	broad.mit.edu	37	chr11	55111605	55111605	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttaagtatagttagaaaaaGagtatctcccacactgaaca	17	10	7	7	0	1	3	0	1	1	2	2	3	1	3	1	0	1	4	1	0	8	5			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:55111605G>T	ENST00000314721.2	+	1	979	c.929G>T	c.(928-930)aGa>aTa	p.R310I		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	310					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						GTTAGAAAAAGAGTATCTCCC	0.348													T	55111605	G	T	55111605	3	4	761	1	0	0	0	0	1	0	0	0	11117	942	33	4	931	4	OR4A16	11	55111605	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	39	55111605	79894911	38	56930			1	92		2	2	40	N	G_A	8.314483e-05
CCDC153	283152	broad.mit.edu	37	chr11	119061065	119061065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggggtgagtccaaactggcGttgctgctccttgtgcctgg	4	11	16	10	1	0	1	0	1	0	0	2	1	2	1	3	4	4	3	3	4	1	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr11:119061065G>A	ENST00000503566.2	-	6	576	c.577C>T	c.(577-579)Cgc>Tgc	p.R193C	CCDC153_ENST00000415318.1_Missense_Mutation_p.R193C			Q494R4	CC153_HUMAN	coiled-coil domain containing 153	193										lung(3)|stomach(1)	4						CCAAACTGGCGTTGCTGCTCC	0.572													A	119061065	G	A	119061065	3	1	761	1	0	0	0	0	1	0	0	0	2814	1145	40	1	59	1	CCDC153	11	119061065	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	63949460	119061065	15945451	39	56931											
CD163	9332	broad.mit.edu	37	chr12	7635291	7635291	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcaagaagaataatgcgacGaaaatggccaacagaacaac	20	4	9	8	2	1	3	1	0	0	3	1	5	1	3	1	1	4	0	1	1	9	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:7635291G>A	ENST00000359156.4	-	14	3397	c.3195C>T	c.(3193-3195)ttC>ttT	p.F1065F	CD163_ENST00000432237.2_Silent_p.F1065F|CD163_ENST00000396620.3_Silent_p.F1098F|CD163_ENST00000541972.1_Silent_p.F1053F	NM_004244.5	NP_004235.4	Q86VB7	C163A_HUMAN	CD163 molecule	1065					acute-phase response	extracellular region|integral to plasma membrane	protein binding|scavenger receptor activity			breast(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(33)|ovary(6)|pancreas(2)|prostate(1)|skin(5)|urinary_tract(4)	76						ATAATGCGACGAAAATGGCCA	0.423													A	7635291	G	A	7635291	2	1	761	1	0	0	0	0	0	0	0	1	2997	1049	37	1		1	CD163	12	7635291	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		7635291	126216604	40	56932											
H1FNT	341567	broad.mit.edu	37	chr12	48723559	48723559	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggcgccgccagccccttcGcaaggcggccaggaaggcca	8	2	15	16	4	0	0	0	0	0	0	1	2	0	1	6	5	1	1	6	5	2	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:48723559G>A	ENST00000335017.1	+	1	797	c.485G>A	c.(484-486)cGc>cAc	p.R162H		NM_181788.1	NP_861453.1	Q75WM6	H1FNT_HUMAN	H1 histone family, member N, testis-specific	162	Arg-rich.				chromosome condensation|multicellular organismal development|sperm chromatin condensation|spermatid nucleus elongation	nuclear chromatin	ATP binding|DNA binding			endometrium(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	13						CAGCCCCTTCGCAAGGCGGCC	0.716													A	48723559	G	A	48723559	3	1	761	1	0	0	0	0	1	0	0	0	6976	1087	38	1	487	1	H1FNT	12	48723559	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	41088268	48723559	85128336	41	56933											
SART3	9733	broad.mit.edu	37	chr12	108920291	108920291	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tttgtgtttctccagctgcaGggatgctgttctcgaccctt	4	16	10	11	1	2	0	0	0	2	0	4	2	2	1	2	1	3	5	2	1	0	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr12:108920291G>A	ENST00000228284.3	-	16	2189	c.1955C>T	c.(1954-1956)cCt>cTt	p.P652L	SART3_ENST00000431469.2_Missense_Mutation_p.P616L	NM_014706.3	NP_055521.1	Q15020	SART3_HUMAN	squamous cell carcinoma antigen recognized by T cells 3	652	Required for nuclear localization.				RNA processing	cytoplasm|nuclear speck	nucleotide binding|protein binding|RNA binding			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|stomach(1)	25						TCCAGCTGCAGGGATGCTGTT	0.507									Porokeratosis				A	108920291	G	A	108920291	3	1	761	1	0	0	0	0	1	0	0	0	13939	1000	35	2	952	2	SART3	12	108920291	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	60196732	108920291	24931604	42	56934											
CENPJ	55835	broad.mit.edu	37	chr13	25486740	25486740	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgttcaagttttttaaaaaGtgggtctttataagcccctt	10	17	7	7	0	2	0	1	0	1	0	2	0	2	0	2	1	1	2	2	1	6	8			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:25486740G>T	ENST00000381884.4	-	2	609	c.424C>A	c.(424-426)Ctt>Att	p.L142I	CENPJ_ENST00000545981.1_Missense_Mutation_p.L142I	NM_018451.4	NP_060921.3	Q9HC77	CENPJ_HUMAN	centromere protein J	142					cell division|centriole replication|G2/M transition of mitotic cell cycle|microtubule nucleation|microtubule polymerization	centriole|cytosol|gamma-tubulin small complex|microtubule	protein domain specific binding|tubulin binding			endometrium(5)|kidney(4)|large_intestine(14)|lung(13)|ovary(5)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.00793)|Epithelial(112;0.0411)|OV - Ovarian serous cystadenocarcinoma(117;0.139)		TTTTTAAAAAGTGGGTCTTTA	0.388													T	25486740	G	T	25486740	3	4	761	1	0	0	0	0	1	0	0	0	3264	1029	36	4	3656	4	CENPJ	13	25486740	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		25486740	89683138	43	56935											
ADPRHL1	113622	broad.mit.edu	37	chr13	114107558	114107558	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgtggtgagggcctcggcGgttgcgatgtgcatgatggt	4	11	18	8	3	0	2	0	2	0	0	1	3	0	2	2	5	2	2	2	5	0	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr13:114107558G>A	ENST00000375418.3	-	1	281	c.195C>T	c.(193-195)acC>acT	p.T65T		NM_138430.3	NP_612439.2	Q8NDY3	ARHL1_HUMAN	ADP-ribosylhydrolase like 1	65					protein de-ADP-ribosylation		ADP-ribosylarginine hydrolase activity|magnesium ion binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|skin(1)	11	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0395)|all_epithelial(44;0.011)|all_lung(25;0.0271)|Lung NSC(25;0.0977)|Breast(118;0.188)	all cancers(43;0.0195)|GBM - Glioblastoma multiforme(44;0.116)			GGGCCTCGGCGGTTGCGATGT	0.647													A	114107558	G	A	114107558	2	1	761	1	0	0	0	0	0	0	0	1	332	1103	39	1		1	ADPRHL1	13	114107558	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	88620818	114107558	1062320	44	56936											
AQR	9716	broad.mit.edu	37	chr15	35193058	35193058	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caggttccgaatagtctccaGcacagcctgtcagtaaaagg	12	8	10	11	1	2	0	1	0	1	0	4	1	3	0	3	2	2	3	3	2	4	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr15:35193058G>A	ENST00000156471.5	-	20	2233	c.2008C>T	c.(2008-2010)Ctg>Ttg	p.L670L		NM_014691.2	NP_055506.1	O60306	AQR_HUMAN	aquarius intron-binding spliceosomal factor	670						catalytic step 2 spliceosome	RNA binding			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(10)|lung(18)|ovary(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)	57		Lung NSC(122;8.7e-10)|all_lung(180;1.47e-08)		all cancers(64;4.34e-18)|GBM - Glioblastoma multiforme(113;4.59e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0283)		ATAGTCTCCAGCACAGCCTGT	0.438													A	35193058	G	A	35193058	2	1	761	1	0	0	0	0	0	0	0	1	838	962	34	2		2	AQR	15	35193058	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		35193058	67338334	45	56937											
UNKL	64718	broad.mit.edu	37	chr16	1417745	1417745	+	Frame_Shift_Del	DEL	C	C	-																															tgacccgggccagctcagctCcgtttggacttgcactcgaa																										TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:1417745delC	ENST00000389221.4	-	13	1690	c.1691delG	c.(1690-1692)ggafs	p.G564fs	UNKL_ENST00000391893.2_Frame_Shift_Del_p.G63fs|UNKL_ENST00000248104.7_Frame_Shift_Del_p.G63fs|UNKL_ENST00000402641.2_Frame_Shift_Del_p.G66fs|UNKL_ENST00000403703.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000397464.1_Frame_Shift_Del_p.G66fs|UNKL_ENST00000508903.2_Frame_Shift_Del_p.G567fs	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	564						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				CAGCTCAGCTCCGTTTGGACT	0.657													-	1417745	C	-	1417745	7	5	761	1	0	1	0	1	0	0	0	0	17103	855	30	0	513	0	UNKL	16	1417745	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RH-01A-12D-A34A-08		1417745	88937008	46	56938											
ZNF668	79759	broad.mit.edu	37	chr16	31072792	31072792	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccggacaccagcatcttggCattccacatgctccaccgtc	8	8	7	18	2	1	0	0	0	1	0	4	1	3	1	5	2	2	3	5	2	0	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:31072792C>T	ENST00000538906.1	-	3	2241	c.1457G>A	c.(1456-1458)tGc>tAc	p.C486Y	ZNF668_ENST00000539836.3_Missense_Mutation_p.C509Y|ZNF668_ENST00000535577.1_Missense_Mutation_p.C486Y|ZNF668_ENST00000300849.4_Missense_Mutation_p.C486Y|ZNF668_ENST00000394983.2_Missense_Mutation_p.C486Y|ZNF668_ENST00000426488.2_Missense_Mutation_p.C509Y	NM_001172668.1	NP_001166139	Q96K58	ZN668_HUMAN	zinc finger protein 668	486					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	27						AGCATCTTGGCATTCCACATG	0.672													T	31072792	C	T	31072792	3	4	761	1	0	0	0	0	1	0	0	0	18176	710	25	2	406	2	ZNF668	16	31072792	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	29655047	31072792	59281961	47	56939											
ABCC12	94160	broad.mit.edu	37	chr16	48117859	48117859	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgtgatcgcagttgagAactgtgttgaggcggtgggc	8	9	18	6	3	0	3	0	3	0	1	1	5	0	4	0	4	1	3	0	4	1	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr16:48117859A>G	ENST00000311303.3	-	28	4299	c.3954T>C	c.(3952-3954)gtT>gtC	p.V1318V	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_3'UTR	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	1318	ABC transporter 2.					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CGCAGTTGAGAACTGTGTTGA	0.512													G	48117859	A	G	48117859	2	3	761	1	0	0	0	0	0	0	0	1	52	233	9	3		3	ABCC12	16	48117859	Silent	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	17045067	48117859	42236894	48	56940											
ZZEF1	23140	broad.mit.edu	37	chr17	3974138	3974138	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgaaaagttctgaatatggCccacagaagttctgagcagg	13	10	11	7	0	2	4	0	3	2	1	2	4	2	4	1	2	1	3	1	2	5	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:3974138C>A	ENST00000381638.2	-	26	4039	c.3915G>T	c.(3913-3915)ggG>ggT	p.G1305G		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	1305							calcium ion binding|zinc ion binding			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						CTGAATATGGCCCACAGAAGT	0.438													A	3974138	C	A	3974138	2	1	761	1	0	0	0	0	0	0	0	1	18352	726	26	4		4	ZZEF1	17	3974138	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		3974138	77221072	49	56941											
ZMYND15	84225	broad.mit.edu	37	chr17	4644908	4644908	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctgcacgtttcctgtctcttActtgtgacggatgagcatgg	6	14	11	10	2	1	2	0	2	1	0	3	3	2	3	1	2	3	3	1	2	1	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:4644908A>T	ENST00000433935.1	+	3	681	c.624A>T	c.(622-624)ttA>ttT	p.L208F	ZMYND15_ENST00000269289.6_Missense_Mutation_p.L208F|ZMYND15_ENST00000573751.2_Missense_Mutation_p.L208F|ZMYND15_ENST00000592813.1_Missense_Mutation_p.L208F	NM_001136046.2|NM_001267822.1	NP_001129518.1|NP_001254751.1	Q9H091	ZMY15_HUMAN	zinc finger, MYND-type containing 15	208							zinc ion binding			endometrium(5)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)|skin(2)	18						CCTGTCTCTTACTTGTGACGG	0.582													T	4644908	A	T	4644908	3	4	761	1	0	0	0	0	1	0	0	0	17809	388	14	5	630	5	ZMYND15	17	4644908	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08	670770	4644908	76550302	50	56942											
TP53	7157	broad.mit.edu	37	chr17	7578413	7578413	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atggtgggggcagcgcctcaCaacctccgtcatgtgctgtg	6	9	14	12	2	2	0	2	0	0	0	3	0	3	0	3	3	3	2	3	3	1	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:7578413C>A	ENST00000420246.2	-	5	649	c.517G>T	c.(517-519)Gtg>Ttg	p.V173L	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.V173L|TP53_ENST00000269305.4_Missense_Mutation_p.V173L|TP53_ENST00000359597.4_Missense_Mutation_p.V173L|TP53_ENST00000413465.2_Missense_Mutation_p.V173L|TP53_ENST00000445888.2_Missense_Mutation_p.V173L	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	173	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		V -> A (in sporadic cancers; somatic mutation).|V -> E (in sporadic cancers; somatic mutation).|V -> G (in sporadic cancers; somatic mutation).|V -> L (in sporadic cancers; somatic mutation).|V -> M (in LFS; germline mutation and in sporadic cancers; somatic mutation).|V -> W (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.V173L(68)|p.V173M(46)|p.0?(8)|p.V80L(6)|p.V41L(6)|p.V173fs*1(4)|p.V80M(3)|p.V41M(3)|p.V173fs*59(2)|p.V157_C176del20(1)|p.V172_R174delVVR(1)|p.V173fs*69(1)|p.P151_V173del23(1)|p.E171fs*61(1)|p.V173fs*23(1)|p.V172_E180delVVRRCPHHE(1)|p.E171fs*1(1)|p.V173W(1)|p.V173fs*8(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.S149fs*72(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)		CAGCGCCTCACAACCTCCGTC	0.662		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)			A	7578413	C	A	7578413	3	1	761	1	0	0	0	0	1	0	0	0	16482	478	17	4	781	4	TP53	17	7578413	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	2933505	7578413	73616797	51	56943											
FLOT2	2319	broad.mit.edu	37	chr17	27207790	27207790	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggcagctcggccagcagtcGgttcacttctgatgtgacct	7	10	12	12	2	2	2	1	2	1	0	4	2	2	2	2	3	2	4	2	3	0	2			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:27207790G>A	ENST00000394906.2	-	12	1431	c.1354C>T	c.(1354-1356)Cga>Tga	p.R452*	FLOT2_ENST00000394908.4_Nonsense_Mutation_p.R397*|FLOT2_ENST00000585169.1_Nonsense_Mutation_p.R397*|FLOT2_ENST00000577789.1_5'UTR			Q14254	FLOT2_HUMAN	flotillin 2	397					cell adhesion|epidermis development	cell surface|endocytic vesicle|endosome|membrane fraction				endometrium(3)|lung(6)|prostate(1)|urinary_tract(1)	11	all_cancers(5;2.12e-15)|all_epithelial(6;3.44e-19)|Lung NSC(42;0.01)		Epithelial(11;3.26e-06)|all cancers(11;1.76e-05)|BRCA - Breast invasive adenocarcinoma(11;0.00015)|OV - Ovarian serous cystadenocarcinoma(11;0.0602)			GCCAGCAGTCGGTTCACTTCT	0.572													A	27207790	G	A	27207790	4	1	761	1	0	0	0	0	0	1	0	0	5986	1124	39	1	105	1	FLOT2	17	27207790	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	19629377	27207790	53987420	52	56944											
TOP2A	7153	broad.mit.edu	37	chr17	38564814	38564814	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttacagctgaacacttcttGtttaactggacttgggcctt	8	16	8	9	0	1	1	0	1	1	0	1	2	1	2	1	2	4	2	1	2	3	8			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:38564814G>T	ENST00000423485.1	-	11	1430	c.1272C>A	c.(1270-1272)aaC>aaA	p.N424K		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	424					apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	AACACTTCTTGTTTAACTGGA	0.363													T	38564814	G	T	38564814	3	4	761	1	0	0	0	0	1	0	0	0	16466	1368	48	4	3423	4	TOP2A	17	38564814	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	11357024	38564814	42630396	53	56945											
AOC3	8639	broad.mit.edu	37	chr17	41004014	41004014	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accacggctccccgtggtctGcaatcaggggaccgggccac	7	5	13	16	3	2	0	1	0	1	0	3	1	3	1	5	5	1	2	5	5	1	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:41004014G>A	ENST00000308423.2	+	1	814	c.654G>A	c.(652-654)ctG>ctA	p.L218L		NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	218					amine metabolic process|cell adhesion|inflammatory response	cell surface|integral to membrane|plasma membrane	aliphatic-amine oxidase activity|aminoacetone:oxygen oxidoreductase(deaminating) activity|copper ion binding|phenethylamine:oxygen oxidoreductase (deaminating) activity|primary amine oxidase activity|protein homodimerization activity|quinone binding|tryptamine:oxygen oxidoreductase (deaminating) activity			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	CCCGTGGTCTGCAATCAGGGG	0.607													A	41004014	G	A	41004014	2	1	761	1	0	0	0	0	0	0	0	1	730	1306	46	2		2	AOC3	17	41004014	Silent	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	2439200	41004014	40191196	54	56946											
UNK	85451	broad.mit.edu	37	chr17	73780866	73780866	+	Frame_Shift_Del	DEL	T	T	-																															ccgtgtggggggtcttcacgTtctcgtggcgcggcgcaggc																										TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr17:73780866delT	ENST00000293218.3	+	2	133	c.133delT	c.(133-135)ttcfs	p.F45fs	UNK_ENST00000589666.1_5'UTR|H3F3B_ENST00000586607.1_Intron			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	0							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			GGTCTTCACGTTCTCGTGGCG	0.617													-	73780866	T	-	73780866	7	5	761	1	0	1	0	1	0	0	0	0	17102	1725	60	0	139	0	UNK	17	73780866	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RH-01A-12D-A34A-08	32776852	73780866	7414344	55	56947											
MUC16	94025	broad.mit.edu	37	chr19	9072517	9072517	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccccatgaggacctgtttGggtggtgatggttatttctg	6	14	14	7	0	1	2	0	2	1	0	1	3	1	3	3	4	1	2	3	4	1	3			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:9072517G>T	ENST00000397910.4	-	3	15132	c.14929C>A	c.(14929-14931)Caa>Aaa	p.Q4977K		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4979	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						GGACCTGTTTGGGTGGTGATG	0.483													T	9072517	G	T	9072517	3	4	761	1	0	0	0	0	1	0	0	0	10049	1357	47	4	28922	4	MUC16	19	9072517	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08		9072517	50056466	56	56948											
OR10H4	126541	broad.mit.edu	37	chr19	16059822	16059822	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagatacagtatccatgcCtagtcagaactatagcatca	15	9	6	11	0	2	2	2	0	0	2	3	2	3	2	3	0	4	2	3	0	6	5			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:16059822C>T	ENST00000322107.1	+	1	5	c.5C>T	c.(4-6)cCt>cTt	p.P2L		NM_001004465.1	NP_001004465.1	Q8NGA5	O10H4_HUMAN	olfactory receptor, family 10, subfamily H, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)|urinary_tract(1)	17						GTATCCATGCCTAGTCAGAAC	0.438													T	16059822	C	T	16059822	3	4	761	1	0	0	0	0	1	0	0	0	10984	681	24	2	7	2	OR10H4	19	16059822	Missense_Mutation	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08	6987305	16059822	43069161	57	56949											
ZNF607	84775	broad.mit.edu	37	chr19	38189657	38189657	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaagatatgaggcacaacGaaaggacttcccacattctt	16	8	7	10	1	1	2	0	1	1	1	2	4	2	3	1	2	2	1	1	2	5	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:38189657G>T	ENST00000355202.4	-	5	1970	c.1375C>A	c.(1375-1377)Cgt>Agt	p.R459S	CTD-2528L19.4_ENST00000586606.2_Intron|ZNF607_ENST00000395835.3_Missense_Mutation_p.R458S	NM_032689.4	NP_116078.4	Q96SK3	ZN607_HUMAN	zinc finger protein 607	459					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|lung(8)|urinary_tract(1)	27			UCEC - Uterine corpus endometrioid carcinoma (49;0.0775)			GAGGCACAACGAAAGGACTTC	0.413													T	38189657	G	T	38189657	3	4	761	1	0	0	0	0	1	0	0	0	18134	1058	37	4	719	4	ZNF607	19	38189657	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	22129835	38189657	20939326	58	56950											
NLRP12	91662	broad.mit.edu	37	chr19	54314138	54314148	+	Frame_Shift_Del	DEL	CACTCTGGTTC	CACTCTGGTTC	-																															ttgcatgctgcattccgtggCactctggttcatctccctgc																										TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr19:54314138_54314148delCACTCTGGTTC	ENST00000324134.6	-	3	933_943	c.765_775delGAACCAGAGTG	c.(763-777)atgaaccagagtgccfs	p.MNQSA255fs	NLRP12_ENST00000535162.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391773.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391775.3_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000345770.5_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000391772.1_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000351894.4_Frame_Shift_Del_p.MNQSA255fs|NLRP12_ENST00000354278.3_Frame_Shift_Del_p.MNQSA255fs	NM_001277126.1|NM_144687.2	NP_001264055.1|NP_653288.1	P59046	NAL12_HUMAN	NLR family, pyrin domain containing 12	255	NACHT.				negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interleukin-1 secretion|negative regulation of interleukin-6 biosynthetic process|negative regulation of protein autophosphorylation|negative regulation of Toll signaling pathway|positive regulation of inflammatory response|positive regulation of interleukin-1 beta secretion|regulation of interleukin-18 biosynthetic process|release of cytoplasmic sequestered NF-kappaB	cytoplasm	ATP binding|caspase activator activity|protein binding			NS(1)|breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(36)|ovary(5)|pancreas(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	80	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.026)		CATTCCGTGGCACTCTGGTTCATCTCCCTGC	0.564													-	54314148	CACTCTGGTTC	-	54314138	7	5	761	1	0	1	0	1	0	0	0	0	10550	710	25	0	2538	0	NLRP12	19	54314138	Frame_Shift_Del	DEL	CACTCTGGTTC	TCGA-TQ-A7RH-01A-12D-A34A-08	16124481	54314138	4814845	59	56951											
UCKL1	54963	broad.mit.edu	37	chr20	62585381	62585381	+	Frame_Shift_Del	DEL	G	G	-																															tggataactaaaatgaggctGgggggaggagggagcaggga																										TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr20:62585381delG	ENST00000595604.1	+	1	375	c.375delG	c.(373-375)ctgfs	p.L125fs	UCKL1_ENST00000358711.3_Intron|UCKL1_ENST00000354216.6_Intron|UCKL1_ENST00000369892.3_Intron																							AAATGAGGCTGGGGGGAGGAG	0.597													-	62585381	G	-	62585381	7	5	761	1	0	1	0	1	0	0	0	0	17027	1363	47	0		0	UCKL1	20	62585381	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RH-01A-12D-A34A-08		62585381	440139	60	56952											
KRTAP10-4	386672	broad.mit.edu	37	chr21	45993836	45993836	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agccgtgtgtccagcccctgCtgcccagtgacctgcgagcc	5	7	12	17	2	0	1	0	1	0	0	1	2	1	1	7	0	6	1	7	0	0	0			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:45993836C>T	ENST00000400374.3	+	1	231	c.201C>T	c.(199-201)tgC>tgT	p.C67C	TSPEAR_ENST00000323084.4_Intron	NM_198687.1	NP_941960.1	P60372	KR104_HUMAN	keratin associated protein 10-4	67	36 X 5 AA repeats of C-C-X(3).					keratin filament				NS(1)|endometrium(4)|kidney(1)|large_intestine(1)|lung(9)|pancreas(1)|prostate(1)	18						CCAGCCCCTGCTGCCCAGTGA	0.711													T	45993836	C	T	45993836	2	4	761	1	0	0	0	0	0	0	0	1	8569	805	28	2		2	KRTAP10-4	21	45993836	Silent	SNP	C	TCGA-TQ-A7RH-01A-12D-A34A-08		45993836	2136059	61	56953											
FTCD	10841	broad.mit.edu	37	chr21	47557244	47557244	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccatctccagggctttggccGccacctgcaaggaccccagg	7	6	11	17	1	1	0	0	0	1	0	2	1	1	1	7	4	1	2	7	4	1	1	rs145609043		TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chr21:47557244G>A	ENST00000397748.1	-	13	1491	c.1448C>T	c.(1447-1449)gCg>gTg	p.A483V	FTCD_ENST00000355384.2_Silent_p.G468G|FTCD_ENST00000498355.2_5'UTR|FTCD_ENST00000397746.3_Missense_Mutation_p.A483V|FTCD_ENST00000397743.1_Silent_p.G468G|FTCD_ENST00000291670.5_Missense_Mutation_p.A483V|FTCD_ENST00000359679.2_Missense_Mutation_p.A483V			O95954	FTCD_HUMAN	formimidoyltransferase cyclodeaminase	483	Cyclodeaminase/cyclohydrolase (By similarity).				folic acid-containing compound metabolic process|histidine catabolic process	centriole|cytosol|Golgi apparatus	folic acid binding|formimidoyltetrahydrofolate cyclodeaminase activity|glutamate formimidoyltransferase activity			endometrium(1)|large_intestine(2)|lung(9)|pancreas(1)|prostate(3)|skin(3)	19	Breast(49;0.214)			Colorectal(79;0.235)	L-Glutamic Acid(DB00142)|Pyridoxal Phosphate(DB00114)|Tetrahydrofolic acid(DB00116)	GGCTTTGGCCGCCACCTGCAA	0.597													A	47557244	G	A	47557244	3	1	761	1	0	0	0	0	1	0	0	0	6133	1087	38	1	185	1	FTCD	21	47557244	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	1563408	47557244	572651	62	56954											
ATRX	546	broad.mit.edu	37	chrX	76849196	76849196	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caatttcctctgccattcgaAgaatttcaaagagaagtacc	14	11	6	10	1	2	2	1	0	1	2	4	4	3	2	3	0	2	1	3	0	6	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	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	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76849196	A	G	76849196	3	3	761	1	0	0	0	0	1	0	0	0	1213	72	3	3	1438	3	ATRX	23	76849196	Missense_Mutation	SNP	A	TCGA-TQ-A7RH-01A-12D-A34A-08		76849196	78421364	63	56955											
COL4A6	1288	broad.mit.edu	37	chrX	107417809	107417809	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctgggaggccaggagctccaGgtaggcctggtggtccaggt	6	7	18	10	0	0	0	0	0	0	0	2	2	2	2	4	8	1	2	4	8	1	1			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:107417809G>T	ENST00000334504.7	-	31	3232	c.2999C>A	c.(2998-3000)cCt>cAt	p.P1000H	COL4A6_ENST00000372216.4_Missense_Mutation_p.P1001H|COL4A6_ENST00000545689.1_Missense_Mutation_p.P1000H|COL4A6_ENST00000394872.2_Missense_Mutation_p.P1001H|COL4A6_ENST00000538570.1_Missense_Mutation_p.P1000H	NM_033641.2	NP_378667.1	Q14031	CO4A6_HUMAN	collagen, type IV, alpha 6	1001	Triple-helical region.				cell adhesion|extracellular matrix organization	collagen type IV	extracellular matrix structural constituent|protein binding			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(20)|lung(41)|ovary(7)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	92						AGGAGCTCCAGGTAGGCCTGG	0.547									Alport syndrome with Diffuse Leiomyomatosis				T	107417809	G	T	107417809	3	4	761	1	0	0	0	0	1	0	0	0	3726	1000	35	4	2133	4	COL4A6	23	107417809	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	30568613	107417809	47852751	64	56956											
LRCH2	57631	broad.mit.edu	37	chrX	114361427	114361427	+	Frame_Shift_Del	DEL	T	T	-																															tcagatgatactggagattgTgttgacatattagcattatc																										TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:114361427delT	ENST00000317135.8	-	16	1800	c.1770delA	c.(1768-1770)acafs	p.T590fs	LRCH2_ENST00000538422.1_Intron	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2	590										breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						CTGGAGATTGTGTTGACATAT	0.284													-	114361427	T	-	114361427	7	5	761	1	0	1	0	1	0	0	0	0	9003	1683	59	0	551	0	LRCH2	23	114361427	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RH-01A-12D-A34A-08	6943618	114361427	40909133	65	56957											
KIAA1210	57481	broad.mit.edu	37	chrX	118222263	118222263	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	taggaggcagaggcttcataGaaatgctctcttcaacagcc	12	9	10	10	0	3	2	2	0	1	2	4	3	3	3	1	3	3	3	1	3	4	4			TCGA-TQ-A7RH-01A-12D-A34A-08	TCGA-TQ-A7RH-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92353c63-d5c2-4230-a396-f59612726e28	ec2bcc74-83ae-40d9-84f1-4655f7dcb336	g.chrX:118222263G>A	ENST00000402510.2	-	11	2929	c.2930C>T	c.(2929-2931)tCt>tTt	p.S977F		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	977										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						AGGCTTCATAGAAATGCTCTC	0.463													A	118222263	G	A	118222263	3	1	761	1	0	0	0	0	1	0	0	0	8272	942	33	2	2215	2	KIAA1210	23	118222263	Missense_Mutation	SNP	G	TCGA-TQ-A7RH-01A-12D-A34A-08	3860836	118222263	37048297	66	56958											
ARV1	64801	broad.mit.edu	37	chr1	231131566	231131567	+	Frame_Shift_Ins	INS	-	-	A																															gtagaacggcccatgacggcINSaaaaaaaaagcccaacttca																										TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr1:231131566_231131567insA	ENST00000310256.2	+	4	566_567	c.509_510insA	c.(508-513)gcaaaafs	p.AK170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Ins_p.AK130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					sphingolipid metabolic process	integral to membrane				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCCATGACGGCAAAAAAAAAGC	0.381													A	231131567	-	A	231131566	7	5	762	1	0	1	1	0	0	0	0	0	1007	710	25	0	523	0	ARV1	1	231131566	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RI-01A-11D-A33T-08		231131566	18119055	1	56959											
TTN	7273	broad.mit.edu	37	chr2	179611166	179611166	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgcttctcaaattctttaaCgtctttttcacttaattcaa	10	19	2	10	1	5	0	3	0	3	0	6	0	5	0	0	0	2	1	0	0	4	8			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr2:179611166C>T	ENST00000360870.5	-	46	16183	c.15961G>A	c.(15961-15963)Gtt>Att	p.V5321I	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Intron	NM_133379.3	NP_596870.2	Q8WZ42	TITIN_HUMAN	titin	8833	Ig-like 34.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AATTCTTTAACGTCTTTTTCA	0.363													T	179611166	C	T	179611166	3	4	762	1	0	0	0	0	1	0	0	0	16837	536	19	1	94336	1	TTN	2	179611166	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		179611166	63588207	2	56960											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	762	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	29501946	209113112	34086261	3	56961											
LMOD3	56203	broad.mit.edu	37	chr3	69167987	69167987	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	atctttgaggttggttttctCgggtggttctctggcttccg	2	18	13	8	2	3	1	0	1	3	0	6	1	4	1	1	5	0	4	1	5	0	6	rs149196259	by1000genomes	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:69167987C>T	ENST00000420581.2	-	2	1698	c.1519G>A	c.(1519-1521)Gag>Aag	p.E507K	LMOD3_ENST00000489031.1_Missense_Mutation_p.E507K|LMOD3_ENST00000475434.1_Missense_Mutation_p.E507K	NM_198271.3	NP_938012.2	Q0VAK6	LMOD3_HUMAN	leiomodin 3 (fetal)	507						cytoplasm|cytoskeleton	tropomyosin binding			breast(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)	13		Lung NSC(201;0.0193)|Prostate(884;0.174)		BRCA - Breast invasive adenocarcinoma(55;7.88e-05)|Epithelial(33;0.000839)|LUSC - Lung squamous cell carcinoma(21;0.0119)|Lung(16;0.0191)|KIRC - Kidney renal clear cell carcinoma(39;0.205)|Kidney(39;0.24)		TTGGTTTTCTCGGGTGGTTCT	0.547													T	69167987	C	T	69167987	3	4	762	1	0	0	0	0	1	0	0	0	8919	893	31	1	171	1	LMOD3	3	69167987	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		69167987	128854443	4	56962											
KIAA1407	57577	broad.mit.edu	37	chr3	113684008	113684008	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tacactaatctggctcattcGttcaccagacttgtcttact	9	15	5	12	1	4	1	2	0	2	1	5	1	4	1	1	1	2	2	1	1	3	6	rs145304274	byFrequency	TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr3:113684008G>A	ENST00000295878.3	-	17	2951	c.2805C>T	c.(2803-2805)aaC>aaT	p.N935N		NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	935										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGGCTCATTCGTTCACCAGAC	0.438													A	113684008	G	A	113684008	2	1	762	1	0	0	0	0	0	0	0	1	8287	1136	40	1		1	KIAA1407	3	113684008	Silent	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	44516021	113684008	84338422	5	56963											
STAP1	26228	broad.mit.edu	37	chr4	68456652	68456652	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagcgtaggacaaaactacaCtattgaactggaaaaacctg	17	7	9	8	1	0	1	0	1	0	0	0	4	0	3	1	2	5	1	1	2	8	4			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:68456652C>A	ENST00000265404.2	+	7	792	c.710C>A	c.(709-711)aCt>aAt	p.T237N	STAP1_ENST00000396225.1_Missense_Mutation_p.T237N	NM_012108.2	NP_036240.1	Q9ULZ2	STAP1_HUMAN	signal transducing adaptor family member 1	237	SH2.				cellular membrane fusion|intracellular protein transport	cytoplasm				NS(1)|large_intestine(1)|liver(1)|lung(7)|skin(1)|urinary_tract(1)	12						CAAAACTACACTATTGAACTG	0.373													A	68456652	C	A	68456652	3	1	762	1	0	0	0	0	1	0	0	0	15348	565	20	4	736	4	STAP1	4	68456652	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		68456652	122697624	6	56964											
NPY2R	4887	broad.mit.edu	37	chr4	156135535	156135535	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acagtaattgccctggaccgGcacaggtgcatcgtctacca	10	8	10	13	2	1	0	0	0	1	0	2	1	1	1	3	3	3	3	3	3	2	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr4:156135535G>A	ENST00000329476.3	+	2	933	c.444G>A	c.(442-444)cgG>cgA	p.R148R	NPY2R_ENST00000506608.1_Silent_p.R148R	NM_000910.2	NP_000901.1	P49146	NPY2R_HUMAN	neuropeptide Y receptor Y2	148					cardiac left ventricle morphogenesis|inhibition of adenylate cyclase activity by G-protein signaling pathway|locomotory behavior|outflow tract morphogenesis	integral to plasma membrane	calcium channel regulator activity			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(17)|prostate(1)|skin(5)|urinary_tract(1)	36	all_hematologic(180;0.24)	Renal(120;0.0854)				CCCTGGACCGGCACAGGTGCA	0.557													A	156135535	G	A	156135535	2	1	762	1	0	0	0	0	0	0	0	1	10685	1190	42	2		2	NPY2R	4	156135535	Silent	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	87678883	156135535	35018741	7	56965											
C5orf49	134121	broad.mit.edu	37	chr5	7835522	7835522	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaacatgaagtcccaggctTtttgcatgttctctgtcatc	8	16	7	10	0	2	1	1	1	1	0	5	1	3	1	1	1	2	3	1	1	2	4			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:7835522T>G	ENST00000399810.2	-	2	705	c.237A>C	c.(235-237)aaA>aaC	p.K79N	C5orf49_ENST00000509627.1_Missense_Mutation_p.K79N	NM_001089584.2	NP_001083053.1	A4QMS7	CE049_HUMAN	chromosome 5 open reading frame 49	79										large_intestine(3)|lung(5)|skin(1)	9						GTCCCAGGCTTTTTGCATGTT	0.338													G	7835522	T	G	7835522	3	3	762	1	0	0	0	0	1	0	0	0	2329	1838	64	5	214	5	C5orf49	5	7835522	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		7835522	173079738	8	56966											
HSPA9	3313	broad.mit.edu	37	chr5	137895665	137895665	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcaaggagcagcacatccGtgacatcgccggccaacaca	13	4	9	15	3	1	1	1	1	0	0	3	2	2	2	3	2	3	2	3	2	2	0			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr5:137895665G>A	ENST00000297185.3	-	11	1423	c.1298C>T	c.(1297-1299)aCg>aTg	p.T433M	HSPA9_ENST00000501917.2_Intron	NM_004134.6	NP_004125.3	P38646	GRP75_HUMAN	heat shock 70kDa protein 9 (mortalin)	433					anti-apoptosis|protein folding	cell surface|mitochondrial nucleoid	ATP binding|unfolded protein binding			breast(2)|endometrium(1)|kidney(4)|large_intestine(8)|lung(12)|upper_aerodigestive_tract(1)	28			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			CAGCACATCCGTGACATCGCC	0.498													A	137895665	G	A	137895665	3	1	762	1	0	0	0	0	1	0	0	0	7474	1145	40	1	769	1	HSPA9	5	137895665	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	130060143	137895665	43019595	9	56967											
ZNF184	7738	broad.mit.edu	37	chr6	27420565	27420565	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ggttttcactccggctgaagGctttttcacattcattacat	8	16	7	10	1	3	1	3	1	0	0	4	1	4	1	1	3	1	3	1	3	2	6			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:27420565G>C	ENST00000211936.6	-	6	1057	c.773C>G	c.(772-774)gCc>gGc	p.A258G	ZNF184_ENST00000377419.1_Missense_Mutation_p.A258G	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	258					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						CCGGCTGAAGGCTTTTTCACA	0.378													C	27420565	G	C	27420565	3	2	762	1	0	0	0	0	1	0	0	0	17852	1203	42	4	1486	4	ZNF184	6	27420565	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		27420565	143694502	10	56968											
RRAGD	58528	broad.mit.edu	37	chr6	90097209	90097210	+	Frame_Shift_Del	DEL	AA	AA	-																															tcgttgggagacattttgtgAaagacaactttctgaataga																										TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr6:90097209_90097210delAA	ENST00000369415.4	-	2	524_525	c.248_249delTT	c.(247-249)tttfs	p.F83fs	RRAGD_ENST00000359203.3_Intron|RRAGD_ENST00000492783.1_5'UTR	NM_021244.4	NP_067067.1	Q9NQL2	RRAGD_HUMAN	Ras-related GTP binding D	83					cellular protein localization|cellular response to amino acid stimulus|positive regulation of TOR signaling cascade	lysosome|nucleus	GTP binding|protein heterodimerization activity			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(7)|ovary(2)	15		all_cancers(76;7.01e-07)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00139)		BRCA - Breast invasive adenocarcinoma(108;0.0144)		ACATTTTGTGAAAGACAACTTT	0.465													-	90097210	AA	-	90097209	7	5	762	1	0	1	0	1	0	0	0	0	13766	243	9	0	977	0	RRAGD	6	90097209	Frame_Shift_Del	DEL	AA	TCGA-TQ-A7RI-01A-11D-A33T-08	62676644	90097209	81017858	11	56969											
RABGEF1	27342	broad.mit.edu	37	chr7	66236880	66236882	+	In_Frame_Del	DEL	GAA	GAA	-																															gtttgttcagtggttagcagGaagaagatgagccttaagtc																										TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr7:66236880_66236882delGAA	ENST00000439720.2	+	2	200_202	c.33_35delGAA	c.(31-36)aggaag>agg	p.K13del	RABGEF1_ENST00000484547.2_3'UTR|KCTD7_ENST00000380828.2_5'UTR|KCTD7_ENST00000510829.2_5'UTR|RABGEF1_ENST00000437078.2_In_Frame_Del_p.K14del|RABGEF1_ENST00000450873.2_5'UTR|RABGEF1_ENST00000284957.5_5'UTR|KCTD7_ENST00000451741.2_5'UTR			Q9UJ41	RABX5_HUMAN	RAB guanine nucleotide exchange factor (GEF) 1	138					endocytosis|protein transport	early endosome|recycling endosome	DNA binding|protein binding|zinc ion binding			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|stomach(1)	27						TGGTTAGCAGGAAGAAGATGAGC	0.404													-	66236882	GAA	-	66236880	7	5	762	1	0	1	0	1	0	0	0	0	13054	1189	41	0		0	RABGEF1	7	66236880	In_Frame_Del	DEL	GAA	TCGA-TQ-A7RI-01A-11D-A33T-08		66236880	92901783	12	56970											
PXDNL	137902	broad.mit.edu	37	chr8	52321614	52321614	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcgaagagcatgcagggcGcgtgggtgccccgggggtcg	5	4	21	11	6	0	1	0	0	0	1	1	2	0	1	2	4	3	2	2	4	1	0			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr8:52321614G>A	ENST00000356297.4	-	17	2670	c.2570C>T	c.(2569-2571)gCg>gTg	p.A857V	PXDNL_ENST00000543296.1_Missense_Mutation_p.A857V	NM_144651.4	NP_653252	A1KZ92	PXDNL_HUMAN	peroxidasin homolog (Drosophila)-like	857					hydrogen peroxide catabolic process	extracellular space	heme binding|peroxidase activity			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	48		all_cancers(86;0.107)|Lung NSC(129;0.00641)|all_epithelial(80;0.00716)|all_lung(136;0.015)				CATGCAGGGCGCGTGGGTGCC	0.682													A	52321614	G	A	52321614	3	1	762	1	0	0	0	0	1	0	0	0	12936	1087	38	1	1849	1	PXDNL	8	52321614	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		52321614	94042408	13	56971											
DAPK1	1612	broad.mit.edu	37	chr9	90283584	90283584	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	caggtctccttgcaagacttCgaaaggtgagaagttctgtt	10	12	11	8	1	2	2	0	1	2	2	4	4	2	2	1	2	1	3	1	2	3	4			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr9:90283584C>T	ENST00000469640.2	+	19	2371	c.1996C>T	c.(1996-1998)Cga>Tga	p.R666*	DAPK1_ENST00000408954.3_Nonsense_Mutation_p.R666*|DAPK1_ENST00000358077.5_Nonsense_Mutation_p.R666*|DAPK1_ENST00000491893.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000472284.1_Nonsense_Mutation_p.R666*|DAPK1_ENST00000466188.1_3'UTR			P53355	DAPK1_HUMAN	death-associated protein kinase 1	666					apoptosis|induction of apoptosis by extracellular signals|intracellular protein kinase cascade	actin cytoskeleton|cytoplasm	ATP binding|calmodulin binding|protein serine/threonine kinase activity			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						TGCAAGACTTCGAAAGGTGAG	0.423									Chronic Lymphocytic Leukemia, Familial Clustering of				T	90283584	C	T	90283584	4	4	762	1	0	0	0	0	0	1	0	0	4269	876	31	1	2066	1	DAPK1	9	90283584	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		90283584	50929847	14	56972											
ZNF214	7761	broad.mit.edu	37	chr11	7024038	7024039	+	Frame_Shift_Del	DEL	AT	AT	-																															actcctcccatgtaaaaataAtagtcacatcttcaaatgtt																										TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:7024038_7024039delAT	ENST00000278314.4	-	2	343_344	c.28_29delAT	c.(28-30)attfs	p.I11fs	ZNF214_ENST00000536068.1_Frame_Shift_Del_p.I11fs|ZNF214_ENST00000531083.1_5'UTR	NM_013249.2	NP_037381.2	Q9UL59	ZN214_HUMAN	zinc finger protein 214	11	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				Epithelial(150;3.87e-08)|BRCA - Breast invasive adenocarcinoma(625;0.081)		TGTAAAAATAATAGTCACATCT	0.381													-	7024039	AT	-	7024038	7	5	762	1	0	1	0	1	0	0	0	0	17871	101	4	0	1799	0	ZNF214	11	7024038	Frame_Shift_Del	DEL	AT	TCGA-TQ-A7RI-01A-11D-A33T-08		7024038	127982478	15	56973											
MADD	8567	broad.mit.edu	37	chr11	47303193	47303193	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaatttcatgagggccaggAgatcccccttctcttgggaa	10	10	11	10	0	2	2	1	1	1	1	4	5	3	3	3	3	0	0	3	3	2	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:47303193A>G	ENST00000342922.4	+	8	1715	c.1358A>G	c.(1357-1359)gAg>gGg	p.E453G	MADD_ENST00000395336.3_Missense_Mutation_p.E453G|MADD_ENST00000489415.1_3'UTR|MADD_ENST00000395344.3_Missense_Mutation_p.E453G|MADD_ENST00000402799.1_Missense_Mutation_p.E453G|MADD_ENST00000406482.1_Missense_Mutation_p.E453G|MADD_ENST00000407859.3_Missense_Mutation_p.E453G|MADD_ENST00000349238.3_Missense_Mutation_p.E453G|MADD_ENST00000402192.2_Missense_Mutation_p.E453G|MADD_ENST00000311027.5_Missense_Mutation_p.E453G	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN	MAP-kinase activating death domain	453					activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity			breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		GAGGGCCAGGAGATCCCCCTT	0.498													G	47303193	A	G	47303193	3	3	762	1	0	0	0	0	1	0	0	0	9223	304	11	3	1384	3	MADD	11	47303193	Missense_Mutation	SNP	A	TCGA-TQ-A7RI-01A-11D-A33T-08	40279155	47303193	87703323	16	56974											
ZDHHC24	254359	broad.mit.edu	37	chr11	66307297	66307297	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgccagagacactctgccTgcaataaaagagcagagagg	14	6	12	9	0	1	3	0	0	1	3	1	5	1	3	2	1	4	2	2	1	3	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr11:66307297T>C	ENST00000310442.3	-	3	794		c.e3-2		ZDHHC24_ENST00000526986.1_Intron	NM_207340.1	NP_997223.1	Q6UX98	ZDH24_HUMAN	zinc finger, DHHC-type containing 24							integral to membrane	acyltransferase activity|zinc ion binding			endometrium(1)|large_intestine(3)|ovary(1)|prostate(1)|skin(1)	7						ACACTCTGCCTGCAATAAAAG	0.637													C	66307297	T	C	66307297	5	2	762	1	0	0	0	0	0	0	1	0	17716	1594	55	3	300	3	ZDHHC24	11	66307297	Splice_Site	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	19004104	66307297	68699219	17	56975											
CD163L1	283316	broad.mit.edu	37	chr12	7528426	7528426	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcccaagttagaccattcccTtttccaaagtgatctcccac	10	11	5	15	0	1	2	0	1	1	1	4	2	3	2	5	0	0	1	5	0	3	4			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:7528426T>G	ENST00000313599.3	-	10	2613	c.2556A>C	c.(2554-2556)aaA>aaC	p.K852N	CD163L1_ENST00000416109.2_Missense_Mutation_p.K862N|CD163L1_ENST00000396630.1_Missense_Mutation_p.K852N|CD163L1_ENST00000544331.1_5'UTR			Q9NR16	C163B_HUMAN	CD163 molecule-like 1	852	SRCR 8.					extracellular region|integral to membrane|plasma membrane	scavenger receptor activity			breast(5)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(18)|lung(37)|ovary(8)|prostate(3)|skin(6)|stomach(1)|urinary_tract(4)	96						GACCATTCCCTTTTCCAAAGT	0.448													G	7528426	T	G	7528426	3	3	762	1	0	0	0	0	1	0	0	0	2998	1606	56	5	1845	5	CD163L1	12	7528426	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		7528426	126323469	18	56976											
TMTC1	83857	broad.mit.edu	37	chr12	29786175	29786175	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcccatatggtctctaccaGaggaatactgccgacctgcc	9	9	9	14	1	1	1	0	0	1	1	3	3	2	2	5	2	4	0	5	2	4	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:29786175G>T	ENST00000256062.5	-	6	1182	c.709C>A	c.(709-711)Ctg>Atg	p.L237M	TMTC1_ENST00000539277.1_Missense_Mutation_p.L345M|TMTC1_ENST00000551659.1_Missense_Mutation_p.L407M|TMTC1_ENST00000552618.1_Missense_Mutation_p.L407M|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000381224.2_Missense_Mutation_p.L299M	NM_175861.3	NP_787057.2	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	345						integral to membrane	binding			breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					GTCTCTACCAGAGGAATACTG	0.502													T	29786175	G	T	29786175	3	4	762	1	0	0	0	0	1	0	0	0	16360	933	33	4	1667	4	TMTC1	12	29786175	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08	22257749	29786175	104065720	19	56977											
CHST11	50515	broad.mit.edu	37	chr12	104851291	104851294	+	Frame_Shift_Del	DEL	AAGT	AAGT	-																															ctggtcatcttctatttccaAagtatgttgcacccaggtag																										TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr12:104851291_104851294delAAGT	ENST00000303694.5	+	1	541_544	c.102_105delAAGT	c.(100-105)caaagtfs	p.QS34fs	CHST11_ENST00000547956.1_Frame_Shift_Del_p.QS34fs|CHST11_ENST00000546689.1_Splice_Site_p.S35fs|CHST11_ENST00000549260.1_Splice_Site_p.S35fs	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	34					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						TCTATTTCCAAAGTATGTTGCACC	0.52													-	104851294	AAGT	-	104851291	7	5	762	1	0	1	0	1	0	0	0	0	3429	28	1	0	104	0	CHST11	12	104851291	Frame_Shift_Del	DEL	AAGT	TCGA-TQ-A7RI-01A-11D-A33T-08	75065116	104851291	29000604	20	56978											
TMTC4	84899	broad.mit.edu	37	chr13	101294550	101294550	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccagaaggtggaagaatgcGctccctccttgttacctgcc	8	9	10	14	1	0	2	0	0	0	2	2	3	2	3	5	2	3	2	5	2	4	2			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr13:101294550G>A	ENST00000342624.5	-	7	914	c.656C>T	c.(655-657)gCg>gTg	p.A219V	TMTC4_ENST00000328767.5_Missense_Mutation_p.A89V|TMTC4_ENST00000462211.1_5'UTR|TMTC4_ENST00000376234.3_Missense_Mutation_p.A200V	NM_032813.2	NP_116202.2	Q5T4D3	TMTC4_HUMAN	transmembrane and tetratricopeptide repeat containing 4	200						integral to membrane	binding			breast(3)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	34	all_neural(89;0.0837)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					GGAAGAATGCGCTCCCTCCTT	0.468													A	101294550	G	A	101294550	3	1	762	1	0	0	0	0	1	0	0	0	16363	1087	38	1	1678	1	TMTC4	13	101294550	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		101294550	13875328	21	56979											
IPO4	79711	broad.mit.edu	37	chr14	24655922	24655922	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcactcacttaccttgctctTgactttgaccaagaaagtga	11	12	7	11	0	2	4	1	3	1	1	2	4	2	4	2	0	2	2	2	0	3	4			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr14:24655922T>C	ENST00000354464.6	-	9	1008	c.832A>G	c.(832-834)Aag>Gag	p.K278E	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	278					intracellular protein transport	cytoplasm|nucleus	protein binding|protein transporter activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		ACCTTGCTCTTGACTTTGACC	0.493													C	24655922	T	C	24655922	3	2	762	1	0	0	0	0	1	0	0	0	7853	1821	63	3	2501	3	IPO4	14	24655922	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08		24655922	82693618	22	56980											
CCDC135	84229	broad.mit.edu	37	chr16	57760786	57760786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaagctgctctaccagtacGaggccatgatgcacctgaag	12	7	11	11	1	1	3	0	2	1	1	1	4	1	3	3	1	5	4	3	1	4	2	rs141535311		TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr16:57760786G>A	ENST00000360716.3	+	15	2238	c.2017G>A	c.(2017-2019)Gag>Aag	p.E673K	CCDC135_ENST00000336825.8_Missense_Mutation_p.E608K|CCDC135_ENST00000394337.4_Missense_Mutation_p.E673K			Q8IY82	CC135_HUMAN	coiled-coil domain containing 135	673						cytoplasm				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(12)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	30						CTACCAGTACGAGGCCATGAT	0.582													A	57760786	G	A	57760786	3	1	762	1	0	0	0	0	1	0	0	0	2795	1059	37	1	2067	1	CCDC135	16	57760786	Missense_Mutation	SNP	G	TCGA-TQ-A7RI-01A-11D-A33T-08		57760786	32593967	23	56981											
NF1	4763	broad.mit.edu	37	chr17	29553521	29553521	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaccaaactagaagtggcCctgtacatgtttctgtggaa	12	10	10	9	0	1	2	0	0	1	2	1	3	1	3	2	2	2	2	2	2	5	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553521C>G	ENST00000358273.4	+	18	2453	c.2070C>G	c.(2068-2070)gcC>gcG	p.A690A	NF1_ENST00000356175.3_Silent_p.A690A	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	690					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TAGAAGTGGCCCTGTACATGT	0.542			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29553521	C	G	29553521	2	3	762	1	0	0	0	0	0	0	0	1	10432	610	22	4		4	NF1	17	29553521	Silent	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		29553521	51641689	24	56982			1	93		2	2	30	C		3.091361e-05
NF1	4763	broad.mit.edu	37	chr17	29553550	29553550	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtttctgtggaaccctgacaCtgaagctgttctggttgcca	7	13	11	10	0	2	2	0	2	2	0	2	3	2	3	2	2	3	4	2	2	2	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr17:29553550C>G	ENST00000358273.4	+	18	2482	c.2099C>G	c.(2098-2100)aCt>aGt	p.T700S	NF1_ENST00000356175.3_Missense_Mutation_p.T700S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	700					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)|p.T700S(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AACCCTGACACTGAAGCTGTT	0.552			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29553550	C	G	29553550	3	3	762	1	0	0	0	0	1	0	0	0	10432	565	20	4	2230	4	NF1	17	29553550	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	29	29553550	51641660	25	56983			1	93		2	2	30	C		3.091361e-05
CIC	23152	broad.mit.edu	37	chr19	42790954	42790955	+	Frame_Shift_Del	DEL	TG	TG	-																															gtggaacctcgctctgtggcTgtgttcccttggcactcctt																										TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42790954_42790955delTG	ENST00000572681.2	+	3	2894_2895	c.2826_2827delTG	c.(2824-2829)gctgtgfs	p.V943fs	CIC_ENST00000160740.3_Frame_Shift_Del_p.V34fs|CIC_ENST00000575354.2_Frame_Shift_Del_p.V34fs|CIC_ENST00000575839.2_3'UTR			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	34	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCTCTGTGGCTGTGTTCCCTTG	0.644			"Mis, F, S"		oligodendroglioma								-	42790955	TG	-	42790954	7	5	762	1	0	1	0	1	0	0	0	0	3454	1567	55	0	105	0	CIC	19	42790954	Frame_Shift_Del	DEL	TG	TCGA-TQ-A7RI-01A-11D-A33T-08		42790954	16338029	26	56984											
CIC	23152	broad.mit.edu	37	chr19	42791853	42791853	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctggggcccaaggagaagCagaagtaccacgacctggcc	11	3	13	14	1	0	2	0	0	0	2	0	4	0	2	5	4	2	2	5	4	4	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:42791853C>T	ENST00000572681.2	+	6	3534	c.3466C>T	c.(3466-3468)Cag>Tag	p.Q1156*	CIC_ENST00000160740.3_Nonsense_Mutation_p.Q247*|CIC_ENST00000575354.2_Nonsense_Mutation_p.Q247*			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	247	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGGAGAAGCAGAAGTACCA	0.632			"Mis, F, S"		oligodendroglioma								T	42791853	C	T	42791853	4	4	762	1	0	0	0	0	0	1	0	0	3454	711	25	2	757	2	CIC	19	42791853	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	899	42791853	16337130	27	56985											
KIR3DL3	115653	broad.mit.edu	37	chr19	55247442	55247442	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atttccctccctccaggactCtgatgaacaagaccctcagg	10	9	7	15	0	2	3	1	2	1	1	5	4	5	4	4	2	1	0	4	2	2	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr19:55247442C>G	ENST00000291860.1	+	8	1130	c.1112C>G	c.(1111-1113)tCt>tGt	p.S371C	KIR2DL4_ENST00000396284.2_Intron|CTB-61M7.1_ENST00000400864.3_RNA|KIR3DL1_ENST00000402254.2_Intron|KIR3DL1_ENST00000538269.1_Intron|KIR3DL1_ENST00000541392.1_Intron	NM_153443.3	NP_703144.2	Q8N743	KI3L3_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 3	371						integral to membrane|plasma membrane	receptor activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(3)|prostate(1)|skin(1)	21				GBM - Glioblastoma multiforme(193;0.0192)		CTCCAGGACTCTGATGAACAA	0.537													G	55247442	C	G	55247442	3	3	762	1	0	0	0	0	1	0	0	0	8380	913	32	4	1142	4	KIR3DL3	19	55247442	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	12455589	55247442	3881541	28	56986											
ZNF74	7625	broad.mit.edu	37	chr22	20761037	20761037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactggagctcgcacctcActgagcaccagaggctgcac	10	6	10	15	1	2	2	2	1	0	1	3	3	2	3	2	2	4	5	2	2	1	0			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:20761037A>G	ENST00000400451.2	+	5	2228	c.1714A>G	c.(1714-1716)Act>Gct	p.T572A	ZNF74_ENST00000356671.5_Missense_Mutation_p.T572A|ZNF74_ENST00000357502.5_3'UTR|ZNF74_ENST00000405993.1_Missense_Mutation_p.T540A|ZNF74_ENST00000403682.3_3'UTR	NM_003426.3	NP_003417.2	Q16587	ZNF74_HUMAN	zinc finger protein 74	572					multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	actin cytoskeleton|nucleus	DNA binding|RNA binding|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	19	Melanoma(16;0.000465)|Ovarian(15;0.0025)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)|all_lung(157;0.248)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			CTCGCACCTCACTGAGCACCA	0.542													G	20761037	A	G	20761037	3	3	762	1	0	0	0	0	1	0	0	0	18227	159	6	3	1732	3	ZNF74	22	20761037	Missense_Mutation	SNP	A	TCGA-TQ-A7RI-01A-11D-A33T-08		20761037	30543529	29	56987											
LGALS1	3956	broad.mit.edu	37	chr22	38073059	38073059	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gagtgcgaggcgaggtggctCctgacgctaagaggtgagaa	10	6	18	7	3	0	3	0	2	0	2	1	7	1	3	1	4	1	2	1	4	2	1			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chr22:38073059C>T	ENST00000215909.5	+	2	171	c.76C>T	c.(76-78)Cct>Tct	p.P26S	LGALS1_ENST00000489315.1_3'UTR	NM_002305.3	NP_002296.1	P09382	LEG1_HUMAN	lectin, galactoside-binding, soluble, 1	26	Galectin.				apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of apoptosis	cytoplasm|extracellular space|proteinaceous extracellular matrix	galactoside binding|signal transducer activity			endometrium(1)|large_intestine(1)|lung(1)	3	Melanoma(58;0.0574)					CGAGGTGGCTCCTGACGCTAA	0.657													T	38073059	C	T	38073059	3	4	762	1	0	0	0	0	1	0	0	0	8797	855	30	2	82	2	LGALS1	22	38073059	Missense_Mutation	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08	17312022	38073059	13231507	30	56988											
UTP14A	10813	broad.mit.edu	37	chrX	129042694	129042694	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtctgaaggtgtcagagttCaatgtcagttctgaaggtaa	12	12	12	5	0	5	3	3	2	2	1	5	3	5	3	0	2	0	3	0	2	4	3			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:129042694C>T	ENST00000394422.3	+	4	250	c.222C>T	c.(220-222)ttC>ttT	p.F74F	UTP14A_ENST00000425117.2_Silent_p.F74F|UTP14A_ENST00000371051.5_Intron|RP4-537K23.4_ENST00000432062.1_RNA	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	74					rRNA processing	nucleolus|small-subunit processome	protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						TGTCAGAGTTCAATGTCAGTT	0.443													T	129042694	C	T	129042694	2	4	762	1	0	0	0	0	0	0	0	1	17197	825	29	2		2	UTP14A	23	129042694	Silent	SNP	C	TCGA-TQ-A7RI-01A-11D-A33T-08		129042694	26227866	31	56989											
ATP11C	286410	broad.mit.edu	37	chrX	138879424	138879424	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaacatactttagagtagTgcatactgcagctttggtca	12	12	8	9	0	1	1	1	0	0	1	1	1	1	1	1	1	6	4	1	1	5	6			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:138879424T>C	ENST00000370557.1	-	11	1946	c.919A>G	c.(919-921)Act>Gct	p.T307A	ATP11C_ENST00000460773.1_5'UTR|ATP11C_ENST00000370543.1_Missense_Mutation_p.T310A|ATP11C_ENST00000327569.3_Missense_Mutation_p.T310A|ATP11C_ENST00000361648.2_Missense_Mutation_p.T310A|ATP11C_ENST00000359686.2_Missense_Mutation_p.T310A			Q8NB49	AT11C_HUMAN	ATPase, class VI, type 11C	310					ATP biosynthetic process	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity			breast(2)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(31)|ovary(5)|prostate(1)|skin(3)	75	Acute lymphoblastic leukemia(192;0.000127)					TTTAGAGTAGTGCATACTGCA	0.338													C	138879424	T	C	138879424	3	2	762	1	0	0	0	0	1	0	0	0	1126	1696	59	3	2613	3	ATP11C	23	138879424	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	9836730	138879424	16391136	32	56990											
CETN2	1069	broad.mit.edu	37	chrX	151997187	151997187	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catcaaagagcttgaaagctTtcaggatttcttctttagta	12	15	7	7	0	4	2	2	1	2	1	4	3	4	3	0	1	2	3	0	1	4	7			TCGA-TQ-A7RI-01A-11D-A33T-08	TCGA-TQ-A7RI-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	92fdb7b7-7e35-48a7-a00c-a63753726d81	c8b7a13a-9f33-4121-91a7-ad79b54b9070	g.chrX:151997187T>C	ENST00000370277.3	-	4	389	c.323A>G	c.(322-324)aAa>aGa	p.K108R	CETN2_ENST00000493482.1_5'UTR	NM_004344.1	NP_004335.1	P41208	CETN2_HUMAN	centrin, EF-hand protein, 2	108	EF-hand 3.				cell division|centriole replication|G2/M transition of mitotic cell cycle|mitosis|nucleotide-excision repair|regulation of cytokinesis	centriole|cytosol|XPC complex	ATP binding|ATP-dependent helicase activity|calcium ion binding|nucleic acid binding			breast(1)|lung(4)|prostate(1)|skin(1)	7	Acute lymphoblastic leukemia(192;6.56e-05)					CTTGAAAGCTTTCAGGATTTC	0.433								Direct reversal of damage;Nucleotide excision repair (NER)					C	151997187	T	C	151997187	3	2	762	1	0	0	0	0	1	0	0	0	3305	1841	64	3	203	3	CETN2	23	151997187	Missense_Mutation	SNP	T	TCGA-TQ-A7RI-01A-11D-A33T-08	13117763	151997187	3273373	33	56991											
AGRN	375790	broad.mit.edu	37	chr1	978952	978952	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgccgctttggagccctgtgCgaggccgagaccgggcgctg	4	7	17	13	5	0	1	0	0	0	1	0	4	0	2	4	3	3	2	4	3	0	1	rs142440782		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:978952C>T	ENST00000379370.2	+	9	1688	c.1638C>T	c.(1636-1638)tgC>tgT	p.C546C		NM_198576.3	NP_940978.2	O00468	AGRIN_HUMAN	agrin	546	Kazal-like 6.				axon guidance|clustering of voltage-gated sodium channels|muscarinic acetylcholine receptor signaling pathway|receptor clustering	basal lamina	laminin binding|structural constituent of cytoskeleton			breast(1)|central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	42	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00462)|Epithelial(90;5.98e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.43e-23)|Colorectal(212;5.97e-05)|COAD - Colon adenocarcinoma(227;0.000201)|Kidney(185;0.0024)|BRCA - Breast invasive adenocarcinoma(365;0.00246)|STAD - Stomach adenocarcinoma(132;0.00645)|KIRC - Kidney renal clear cell carcinoma(229;0.0354)|Lung(427;0.201)		GAGCCCTGTGCGAGGCCGAGA	0.692													T	978952	C	T	978952	2	4	763	1	0	0	0	0	0	0	0	1	397	776	27	1		1	AGRN	1	978952	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		978952	248271669	1	56992											
ITGA10	8515	broad.mit.edu	37	chr1	145533526	145533526	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagcttaagaaagatggggCtgtgagggttgcccagagcc	10	7	15	9	0	0	4	0	1	0	3	0	4	0	4	3	3	3	3	3	3	2	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:145533526C>G	ENST00000369304.3	+	12	1584	c.1409C>G	c.(1408-1410)gCt>gGt	p.A470G	ITGA10_ENST00000539363.1_Missense_Mutation_p.A327G|ITGA10_ENST00000538811.1_Missense_Mutation_p.A339G	NM_003637.3	NP_003628.2	O75578	ITA10_HUMAN	integrin, alpha 10	470					cell-matrix adhesion|integrin-mediated signaling pathway	integrin complex	collagen binding|receptor activity			NS(1)|breast(2)|endometrium(3)|kidney(5)|large_intestine(12)|lung(25)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					AAAGATGGGGCTGTGAGGGTT	0.587													G	145533526	C	G	145533526	3	3	763	1	0	0	0	0	1	0	0	0	7931	797	28	4	1455	4	ITGA10	1	145533526	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	144554574	145533526	103717095	2	56993											
DENND4B	9909	broad.mit.edu	37	chr1	153907309	153907309	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgctgctgctgctgttgCtgctgctgctgctgttgccg	0	15	14	12	1	0	0	0	0	0	0	0	0	0	0	1	0	11	12	1	0	0	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:153907309C>T	ENST00000361217.4	-	18	3118	c.2700G>A	c.(2698-2700)caG>caA	p.Q900Q		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	900	Gln-rich.							p.Q788Q(1)|p.Q900Q(1)		NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			gctgctgttgctgctgctgct	0.642													T	153907309	C	T	153907309	2	4	763	1	0	0	0	0	0	0	0	1	4473	796	28	2		2	DENND4B	1	153907309	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	8373783	153907309	95343312	3	56994											
SERPINC1	462	broad.mit.edu	37	chr1	173883867	173883867	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagttcccagacacgccGgttggtggcctccgggatct	6	8	14	13	3	1	1	0	0	1	1	3	3	3	3	4	5	0	2	4	5	0	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:173883867G>A	ENST00000367698.3	-	2	350	c.232C>T	c.(232-234)Cgg>Tgg	p.R78W	SERPINC1_ENST00000494024.1_5'UTR	NM_000488.3	NP_000479.1	P01008	ANT3_HUMAN	serpin peptidase inhibitor, clade C (antithrombin), member 1	78					blood coagulation|regulation of proteolysis	extracellular space|plasma membrane	heparin binding|protease binding|serine-type endopeptidase inhibitor activity			NS(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(15)|ovary(1)	25					Enoxaparin(DB01225)|Fondaparinux sodium(DB00569)|Heparin(DB01109)	CAGACACGCCGGTTGGTGGCC	0.527											OREG0013990	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	173883867	G	A	173883867	3	1	763	1	0	0	0	0	1	0	0	0	14202	1115	39	1	1186	1	SERPINC1	1	173883867	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	19976558	173883867	75366754	4	56995											
PLD5	200150	broad.mit.edu	37	chr1	242253223	242253223	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tgttggagaggggtttgagtTtgaacaggcttgagcagttc	8	13	16	4	0	0	4	0	3	0	1	1	5	0	4	0	4	2	6	0	4	1	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr1:242253223T>A	ENST00000536534.2	-	10	1785	c.1544A>T	c.(1543-1545)aAa>aTa	p.K515I	PLD5_ENST00000427495.1_Missense_Mutation_p.K453I|PLD5_ENST00000442594.2_Missense_Mutation_p.K423I			Q8N7P1	PLD5_HUMAN	phospholipase D family, member 5							integral to membrane	catalytic activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(22)|ovary(6)|skin(3)|urinary_tract(1)	55	Melanoma(84;0.242)		OV - Ovarian serous cystadenocarcinoma(106;0.0329)			GGGTTTGAGTTTGAACAGGCT	0.458													A	242253223	T	A	242253223	3	1	763	1	0	0	0	0	1	0	0	0	12126	1841	64	5	70	5	PLD5	1	242253223	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	68369356	242253223	6997398	5	56996											
DNMT3A	1788	broad.mit.edu	37	chr2	25467117	25467117	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgtaggtacccttgtgcccGcacatgtagcagttccaggg	7	9	12	13	2	0	0	0	0	0	0	1	0	1	0	4	2	3	6	4	2	3	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:25467117G>A	ENST00000264709.3	-	15	2095	c.1758C>T	c.(1756-1758)tgC>tgT	p.C586C	DNMT3A_ENST00000402667.1_Silent_p.C363C|DNMT3A_ENST00000321117.5_Silent_p.C586C|DNMT3A_ENST00000474887.1_5'UTR|DNMT3A_ENST00000380746.4_Silent_p.C397C	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	586	ADD.|Interaction with the PRC2/EED-EZH2 complex (By similarity).				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTTGTGCCCGCACATGTAGC	0.612			"Mis, F, N, S"		AML								A	25467117	G	A	25467117	2	1	763	1	0	0	0	0	0	0	0	1	4715	1079	38	1		1	DNMT3A	2	25467117	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		25467117	217732256	6	56997											
CCDC85A	114800	broad.mit.edu	37	chr2	56420286	56420286	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agtgggagcccggaacacttCcagaagcaccggtcagggag	11	4	15	11	2	1	1	1	0	0	1	2	4	2	4	3	4	3	1	3	4	2	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:56420286C>T	ENST00000407595.2	+	2	1453	c.951C>T	c.(949-951)ttC>ttT	p.F317F	RP11-482H16.1_ENST00000607540.1_RNA	NM_001080433.1	NP_001073902.1	Q96PX6	CC85A_HUMAN	coiled-coil domain containing 85A	317	His-rich.									breast(6)|cervix(2)|endometrium(5)|kidney(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)	38			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			CGGAACACTTCCAGAAGCACC	0.642													T	56420286	C	T	56420286	2	4	763	1	0	0	0	0	0	0	0	1	2887	854	30	2		2	CCDC85A	2	56420286	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	30953169	56420286	186779087	7	56998											
FOXD4L1	200350	broad.mit.edu	37	chr2	114257270	114257270	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccgcttcccctactaccgccGcaagttccccgcctggcaga	6	7	8	20	4	0	1	0	0	0	1	2	1	2	1	8	1	2	4	8	1	3	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:114257270G>A	ENST00000306507.5	+	1	610	c.437G>A	c.(436-438)cGc>cAc	p.R146H		NM_012184.4	NP_036316.1	Q9NU39	FX4L1_HUMAN	forkhead box D4-like 1	146					axon extension involved in axon guidance|cartilage development|dichotomous subdivision of terminal units involved in ureteric bud branching|embryo development|enteric nervous system development|iridophore differentiation|lateral line nerve glial cell development|melanocyte differentiation|neural crest cell migration|pattern specification process|peripheral nervous system development|positive regulation of BMP signaling pathway|positive regulation of kidney development|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|sympathetic nervous system development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			NS(2)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(10)|prostate(1)|skin(2)	26						TACTACCGCCGCAAGTTCCCC	0.647													A	114257270	G	A	114257270	3	1	763	1	0	0	0	0	1	0	0	0	6049	1087	38	1	439	1	FOXD4L1	2	114257270	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	57836984	114257270	128942103	8	56999											
NCKAP5	344148	broad.mit.edu	37	chr2	133541832	133541832	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagaggggccctgagctcTcagtcttcatgaatcgtgag	10	9	12	10	1	3	4	2	3	2	1	5	4	3	4	1	2	1	1	1	2	2	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:133541832T>G	ENST00000409261.1	-	14	2925	c.2552A>C	c.(2551-2553)gAg>gCg	p.E851A	NCKAP5_ENST00000409213.1_Intron|NCKAP5_ENST00000405974.3_Intron|NCKAP5_ENST00000317721.6_Missense_Mutation_p.E851A	NM_207363.2	NP_997246.2	O14513	NCKP5_HUMAN	NCK-associated protein 5	851							protein binding			NS(4)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(29)|lung(51)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	118						CCCTGAGCTCTCAGTCTTCAT	0.537													G	133541832	T	G	133541832	3	3	763	1	0	0	0	0	1	0	0	0	10299	1551	54	5	3205	5	NCKAP5	2	133541832	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	19284562	133541832	109657541	9	57000											
TTN	7273	broad.mit.edu	37	chr2	179484780	179484780	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatattcacactcatcaTccagcctgcaatcttttata	13	13	3	12	0	4	0	3	0	1	0	5	0	5	0	2	0	3	2	2	0	5	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:179484780T>C	ENST00000589042.1	-	249	46588	c.46364A>G	c.(46363-46365)gAt>gGt	p.D15455G	TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D12887G|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D6515G|TTN_ENST00000460472.2_Missense_Mutation_p.D6390G|TTN-AS1_ENST00000604956.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D6582G|TTN_ENST00000591111.1_Missense_Mutation_p.D13814G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000456053.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13814	Fibronectin type-III 12.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ACACTCATCATCCAGCCTGCA	0.363													C	179484780	T	C	179484780	3	2	763	1	0	0	0	0	1	0	0	0	16837	1435	50	3	61785	3	TTN	2	179484780	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	45942948	179484780	63714593	10	57001											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	763	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	29628333	209113113	34086260	11	57002											
CCDC39	339829	broad.mit.edu	37	chr3	180372584	180372584	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaattctactagtttcatggTcctgatatgccgttctacat	9	16	7	9	1	3	1	1	1	2	0	4	2	4	1	2	1	3	2	2	1	5	7			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr3:180372584T>C	ENST00000273654.4	-	13	1767	c.1148A>G	c.(1147-1149)gAc>gGc	p.D383G	CCDC39_ENST00000442201.2_Missense_Mutation_p.D299G			Q9UFE4	CCD39_HUMAN	coiled-coil domain containing 39	299					axonemal dynein complex assembly|ciliary cell motility|cilium movement involved in determination of left/right asymmetry|flagellar cell motility	cilium axoneme|cytoplasm|cytoskeleton				NS(1)|breast(1)|endometrium(4)|large_intestine(9)|lung(22)|ovary(6)|prostate(2)	45	all_cancers(143;9.31e-15)|Ovarian(172;0.0212)		OV - Ovarian serous cystadenocarcinoma(80;5.62e-23)|GBM - Glioblastoma multiforme(14;0.000558)			AGTTTCATGGTCCTGATATGC	0.348													C	180372584	T	C	180372584	3	2	763	1	0	0	0	0	1	0	0	0	2838	1667	58	3	1985	3	CCDC39	3	180372584	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		180372584	17649846	12	57003											
PCDH18	54510	broad.mit.edu	37	chr4	138449670	138449670	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgagaaacaggtcgctgAatccttcacccaacagccta	12	8	8	13	1	1	2	1	2	0	1	3	3	2	2	3	1	3	1	3	1	4	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:138449670A>C	ENST00000344876.4	-	3	3088	c.2702T>G	c.(2701-2703)tTc>tGc	p.F901C	PCDH18_ENST00000511115.1_Missense_Mutation_p.F81C|PCDH18_ENST00000412923.2_Missense_Mutation_p.F900C|PCDH18_ENST00000507846.1_Missense_Mutation_p.F680C|PCDH18_ENST00000510305.1_Missense_Mutation_p.F112C	NM_019035.3	NP_061908.1	Q9HCL0	PCD18_HUMAN	protocadherin 18	901	Interaction with DAB1 (By similarity).				brain development|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(27)|lung(21)|ovary(2)|pancreas(4)|prostate(3)|skin(12)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86	all_hematologic(180;0.24)					CAGGTCGCTGAATCCTTCACC	0.443													C	138449670	A	C	138449670	3	2	763	1	0	0	0	0	1	0	0	0	11589	246	9	5	713	5	PCDH18	4	138449670	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		138449670	52704606	13	57004											
ELF2	1998	broad.mit.edu	37	chr4	139980298	139980298	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	atcatgttcttgcttttttgCcactgcttccgatttaacct	6	19	5	11	1	2	0	1	0	1	0	3	1	3	0	3	0	4	3	3	0	1	8			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr4:139980298C>T	ENST00000394235.2	-	10	2087	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T	ELF2_ENST00000515489.1_Intron|ELF2_ENST00000265495.4_Missense_Mutation_p.A529T|ELF2_ENST00000379549.2_Missense_Mutation_p.A452T|ELF2_ENST00000379550.1_Missense_Mutation_p.A541T|ELF2_ENST00000358635.3_Missense_Mutation_p.A481T|ELF2_ENST00000510408.1_Missense_Mutation_p.A469T	NM_001276458.1	NP_001263387.1	Q15723	ELF2_HUMAN	E74-like factor 2 (ets domain transcription factor)	541					negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	cytoplasm	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|kidney(4)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	19	all_hematologic(180;0.162)					TGCTTTTTTGCCACTGCTTCC	0.468													T	139980298	C	T	139980298	3	4	763	1	0	0	0	0	1	0	0	0	5095	739	26	2	164	2	ELF2	4	139980298	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1530628	139980298	51173978	14	57005											
GOLPH3	64083	broad.mit.edu	37	chr5	32126618	32126618	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttggtgaggggatgtgttgtCatgtcaaaaagtaggaagtt	11	13	15	2	0	2	1	2	1	0	0	2	3	2	3	0	4	0	3	0	4	4	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr5:32126618C>G	ENST00000265070.6	-	4	912	c.597G>C	c.(595-597)atG>atC	p.M199I		NM_022130.3	NP_071413.1	Q9H4A6	GOLP3_HUMAN	golgi phosphoprotein 3 (coat-protein)	199					cell proliferation|positive regulation of TOR signaling cascade|regulation of mitochondrion organization	cytosol|endosome|Golgi cisterna membrane|mitochondrial intermembrane space|plasma membrane|trans-Golgi network	protein binding			kidney(2)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)	11						GATGTGTTGTCATGTCAAAAA	0.428													G	32126618	C	G	32126618	3	3	763	1	0	0	0	0	1	0	0	0	6621	826	29	4	303	4	GOLPH3	5	32126618	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		32126618	148788642	15	57006											
PHACTR1	221692	broad.mit.edu	37	chr6	13273136	13273136	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaggaactggaacagaggaAcattttgaaacgtaagtgac	17	7	12	5	1	0	4	0	2	0	2	0	7	0	7	0	3	4	1	0	3	5	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:13273136A>G	ENST00000379350.1	+	10	1565	c.1436A>G	c.(1435-1437)aAc>aGc	p.N479S	PHACTR1_ENST00000457702.2_Missense_Mutation_p.N334S|RP1-257A7.4_ENST00000606627.1_RNA|PHACTR1_ENST00000379335.3_Missense_Mutation_p.N43S|PHACTR1_ENST00000332995.7_Missense_Mutation_p.N479S|PHACTR1_ENST00000379329.1_Missense_Mutation_p.N43S			Q9C0D0	PHAR1_HUMAN	phosphatase and actin regulator 1	479						cell junction|cytoplasm|synapse	actin binding|protein phosphatase inhibitor activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	26	Breast(50;0.0427)|Ovarian(93;0.12)	all_hematologic(90;0.122)|Lung SC(78;0.195)	Epithelial(50;0.146)|BRCA - Breast invasive adenocarcinoma(129;0.239)			GAACAGAGGAACATTTTGAAA	0.463													G	13273136	A	G	13273136	3	3	763	1	0	0	0	0	1	0	0	0	11886	43	2	3	1470	3	PHACTR1	6	13273136	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		13273136	157841931	16	57007											
GMPR	2766	broad.mit.edu	37	chr6	16290835	16290835	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccatgaacaagcacgcaggAggagttgctgagtacaggtg	12	6	15	8	1	0	2	0	2	0	0	0	4	0	4	1	3	4	5	1	3	3	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:16290835A>G	ENST00000259727.4	+	8	954	c.840A>G	c.(838-840)ggA>ggG	p.G280G	GMPR_ENST00000544145.1_3'UTR	NM_006877.3	NP_006868.3	P36959	GMPR1_HUMAN	guanosine monophosphate reductase	280					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage|response to cold	cytosol	GMP reductase activity|metal ion binding			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	20	Breast(50;0.0427)|Ovarian(93;0.103)	all_hematologic(90;0.0895)				AGCACGCAGGAGGAGTTGCTG	0.572													G	16290835	A	G	16290835	2	3	763	1	0	0	0	0	0	0	0	1	6552	291	11	3		3	GMPR	6	16290835	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	3017699	16290835	154824232	17	57008											
LRRC16A	55604	broad.mit.edu	37	chr6	25610405	25610405	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agccccaggacattttcacaGgaaggtaaggattgtaagga	14	8	12	7	0	1	0	1	0	0	0	1	4	1	4	2	5	1	2	2	5	3	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:25610405G>A	ENST00000329474.6	+	36	4343	c.3975G>A	c.(3973-3975)caG>caA	p.Q1325Q	LRRC16A_ENST00000476458.1_3'UTR	NM_001173977.1|NM_017640.5	NP_001167448.1|NP_060110.4	Q5VZK9	LR16A_HUMAN	leucine rich repeat containing 16A	1325					actin filament organization|blood coagulation|cell migration|lamellipodium assembly|ruffle organization|urate metabolic process	cytosol|lamellipodium|nucleus				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	50						CATTTTCACAGGAAGGTAAGG	0.458													A	25610405	G	A	25610405	2	1	763	1	0	0	0	0	0	0	0	1	9041	991	35	2		2	LRRC16A	6	25610405	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	9319570	25610405	145504662	18	57009											
HIST1H3B	8358	broad.mit.edu	37	chr6	26031889	26031889	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	actttacatttacgctctttCtccgcgaatgcggcgagcga	8	12	9	12	6	2	0	0	0	2	0	3	3	2	0	1	1	4	1	1	1	3	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:26031889C>G	ENST00000244661.2	-	1	399	c.400G>C	c.(400-402)Gaa>Caa	p.E134Q		NM_003537.3	NP_003528.1	P68431	H31_HUMAN	histone cluster 1, H3b	134					blood coagulation|nucleosome assembly|regulation of gene silencing|S phase	nucleoplasm|nucleosome	DNA binding|protein binding			breast(3)|central_nervous_system(10)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|skin(1)	25						TACGCTCTTTCTCCGCGAATG	0.458													G	26031889	C	G	26031889	3	3	763	1	0	0	0	0	1	0	0	0	7211	922	32	4	14	4	HIST1H3B	6	26031889	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	421484	26031889	145083178	19	57010											
BAK1	578	broad.mit.edu	37	chr6	33543651	33543651	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcctgttcctgctgatggCggtaaaaaacgtagctgcgg	8	10	12	11	3	0	1	0	1	0	0	2	1	2	1	3	3	4	5	3	3	4	3	rs1051911		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:33543651C>T	ENST00000374467.3	-	3	373	c.125G>A	c.(124-126)cGc>cAc	p.R42H	BAK1_ENST00000442998.2_Missense_Mutation_p.R42H|BAK1_ENST00000360661.5_Missense_Mutation_p.R42H	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	42			R -> H (in dbSNP:rs1051911).		activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						CTGCTGATGGCGGTAAAAAAC	0.602													T	33543651	C	T	33543651	3	4	763	1	0	0	0	0	1	0	0	0	1310	768	27	1	526	1	BAK1	6	33543651	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	7511762	33543651	137571416	20	57011											
NR2E1	7101	broad.mit.edu	37	chr6	108492765	108492765	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggttttttcaaacggagCatccgaaggaataggaccta	13	10	10	8	2	2	0	2	0	0	0	3	4	3	3	2	4	2	2	2	4	5	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:108492765C>T	ENST00000368986.4	+	2	837	c.129C>T	c.(127-129)agC>agT	p.S43S	NR2E1_ENST00000368983.3_Silent_p.S80S	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	43					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TCAAACGGAGCATCCGAAGGA	0.557													T	108492765	C	T	108492765	2	4	763	1	0	0	0	0	0	0	0	1	10701	709	25	2		2	NR2E1	6	108492765	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	74949114	108492765	62622302	21	57012											
BCLAF1	9774	broad.mit.edu	37	chr6	136596819	136596819	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgtactagcaagcagcctgTctttagtcaaggaagcaggt	11	10	12	8	0	2	0	1	0	1	0	2	1	2	1	1	2	5	4	1	2	6	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:136596819T>C	ENST00000531224.1	-	6	1955	c.1703A>G	c.(1702-1704)gAc>gGc	p.D568G	BCLAF1_ENST00000392348.2_Missense_Mutation_p.D566G|BCLAF1_ENST00000530767.1_Missense_Mutation_p.D395G|BCLAF1_ENST00000527536.1_Missense_Mutation_p.D568G|BCLAF1_ENST00000353331.4_Missense_Mutation_p.D566G|BCLAF1_ENST00000527759.1_Missense_Mutation_p.D566G	NM_001077441.1|NM_014739.2	NP_001070909.1|NP_055554.1	Q9NYF8	BCLF1_HUMAN	BCL2-associated transcription factor 1	568					induction of apoptosis|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|protein binding	p.D568G(1)		haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|ovary(1)|skin(1)	9	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00226)|OV - Ovarian serous cystadenocarcinoma(155;0.00331)		AAGCAGCCTGTCTTTAGTCAA	0.388													C	136596819	T	C	136596819	3	2	763	1	0	0	0	0	1	0	0	0	1388	1667	58	3	1091	3	BCLAF1	6	136596819	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	28104054	136596819	34518248	22	57013											
UTRN	7402	broad.mit.edu	37	chr6	144878380	144878380	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcctggaggaatatgggagtGatgacacaaggaatgtgaaa	15	8	14	4	0	0	3	0	3	0	0	1	7	1	7	1	4	0	0	1	4	5	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr6:144878380G>C	ENST00000367545.3	+	49	7222	c.7222G>C	c.(7222-7224)Gat>Cat	p.D2408H		NM_007124.2	NP_009055.2	P46939	UTRO_HUMAN	utrophin	2408					muscle contraction|muscle organ development|positive regulation of cell-matrix adhesion	cell junction|cytoplasm|cytoskeleton|membrane fraction|nucleus|postsynaptic membrane	actin binding|calcium ion binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|cervix(2)|endometrium(21)|kidney(10)|large_intestine(29)|lung(56)|ovary(5)|pancreas(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	148		Ovarian(120;0.218)		OV - Ovarian serous cystadenocarcinoma(155;5.72e-07)|GBM - Glioblastoma multiforme(68;4.9e-05)|Colorectal(48;0.213)		ATATGGGAGTGATGACACAAG	0.438													C	144878380	G	C	144878380	3	2	763	1	0	0	0	0	1	0	0	0	17205	1290	45	4	7416	4	UTRN	6	144878380	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	8281561	144878380	26236687	23	57014											
MUC17	140453	broad.mit.edu	37	chr7	100683618	100683618	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttctcctacaactgctgaagGtaccagcatgccaatctcaa	12	10	6	13	0	2	1	1	1	2	0	4	1	2	1	3	1	6	3	3	1	6	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:100683618G>T	ENST00000306151.4	+	3	8985	c.8921G>T	c.(8920-8922)gGt>gTt	p.G2974V		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	2974	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)					ACTGCTGAAGGTACCAGCATG	0.517													T	100683618	G	T	100683618	3	4	763	1	0	0	0	0	1	0	0	0	10050	1261	44	4	8931	4	MUC17	7	100683618	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		100683618	58455045	24	57015											
PPP1R3A	5506	broad.mit.edu	37	chr7	113518831	113518831	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcccttcatgtggatcaaaCgctgtttcctttacctcgat	7	15	6	13	2	2	0	2	0	0	0	5	2	4	1	3	1	2	2	3	1	2	4	rs34610491	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:113518831C>T	ENST00000284601.3	-	4	2384	c.2316G>A	c.(2314-2316)gcG>gcA	p.A772A		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	772					glycogen metabolic process	integral to membrane		p.A772A(1)		NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						GTGGATCAAACGCTGTTTCCT	0.408													T	113518831	C	T	113518831	2	4	763	1	0	0	0	0	0	0	0	1	12453	523	19	1		1	PPP1R3A	7	113518831	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12835213	113518831	45619832	25	57016											
NRF1	4899	broad.mit.edu	37	chr7	129357111	129357111	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagatgaccatccagacgaCgcaagcatcagaggccaccc	13	4	10	14	2	1	4	1	2	0	3	2	6	2	4	4	1	1	2	4	1	1	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr7:129357111C>T	ENST00000393232.1	+	9	1235	c.1118C>T	c.(1117-1119)aCg>aTg	p.T373M	NRF1_ENST00000393230.2_Missense_Mutation_p.T373M|NRF1_ENST00000311967.2_Missense_Mutation_p.T373M|NRF1_ENST00000539636.1_Missense_Mutation_p.T212M|NRF1_ENST00000393231.3_Missense_Mutation_p.T373M|NRF1_ENST00000223190.4_Missense_Mutation_p.T373M|NRF1_ENST00000353868.4_Missense_Mutation_p.T307M	NM_005011.3	NP_005002.3	Q16656	NRF1_HUMAN	nuclear respiratory factor 1	373	Required for transcriptional activation.				generation of precursor metabolites and energy|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding			breast(2)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)	24						ATCCAGACGACGCAAGCATCA	0.537													T	129357111	C	T	129357111	3	4	763	1	0	0	0	0	1	0	0	0	10722	536	19	1	1148	1	NRF1	7	129357111	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	15838280	129357111	29781552	26	57017											
DLC1	10395	broad.mit.edu	37	chr8	12957624	12957624	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgactggctgctgctgctgCtggtctgcgtggagttggaa	4	11	16	10	2	1	0	0	0	1	0	1	3	1	2	1	4	5	6	1	4	1	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:12957624C>G	ENST00000276297.4	-	9	2631	c.2222G>C	c.(2221-2223)aGc>aCc	p.S741T	DLC1_ENST00000358919.2_Missense_Mutation_p.S304T|DLC1_ENST00000512044.2_Missense_Mutation_p.S338T|DLC1_ENST00000520226.1_Missense_Mutation_p.S230T	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	deleted in liver cancer 1	741	Poly-Ser.				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						GCTGCTGCTGCTGGTCTGCGT	0.627													G	12957624	C	G	12957624	3	3	763	1	0	0	0	0	1	0	0	0	4589	797	28	4	2404	4	DLC1	8	12957624	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		12957624	133406398	27	57018											
DOCK5	80005	broad.mit.edu	37	chr8	25261108	25261108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagaggaagcaaagccgcaCggggtctattgtgctcccct	9	7	14	11	2	1	1	0	0	1	1	2	3	2	2	3	4	3	3	3	4	3	2	rs144175383	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:25261108C>T	ENST00000276440.7	+	48	5005	c.4961C>T	c.(4960-4962)aCg>aTg	p.T1654M		NM_024940.6	NP_079216.4	Q9H7D0	DOCK5_HUMAN	dedicator of cytokinesis 5	1654						cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(9)|large_intestine(13)|lung(20)|ovary(3)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		all_cancers(63;0.0361)|Ovarian(32;0.000711)|all_epithelial(46;0.0153)|Hepatocellular(4;0.115)|Prostate(55;0.13)|Breast(100;0.143)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0267)|Epithelial(17;1.07e-11)|Colorectal(74;0.0276)|COAD - Colon adenocarcinoma(73;0.0828)		CAAAGCCGCACGGGGTCTATT	0.532													T	25261108	C	T	25261108	3	4	763	1	0	0	0	0	1	0	0	0	4729	536	19	1	5151	1	DOCK5	8	25261108	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12303484	25261108	121102914	28	57019											
SNTB1	6641	broad.mit.edu	37	chr8	121823847	121823847	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgggggctgcgcgccgccCgcgcccgggtgcccagcccc	1	3	16	21	7	0	0	0	0	0	0	1	0	1	0	7	3	3	1	7	3	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr8:121823847C>A	ENST00000395601.3	-	2	651	c.237G>T	c.(235-237)gcG>gcT	p.A79A	SNTB1_ENST00000517992.1_Silent_p.A79A	NM_021021.3	NP_066301.1	Q13884	SNTB1_HUMAN	syntrophin, beta 1 (dystrophin-associated protein A1, 59kDa, basic component 1)	79	PH 1.				muscle contraction	cell junction|cytoplasm|cytoskeleton|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|calmodulin binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(6)	24	Lung NSC(37;4.46e-09)|Ovarian(258;0.0254)|Hepatocellular(40;0.0997)		STAD - Stomach adenocarcinoma(47;0.00503)			gcgcgccgcccgcgcccgggt	0.741													A	121823847	C	A	121823847	2	1	763	1	0	0	0	0	0	0	0	1	14966	639	23	4		4	SNTB1	8	121823847	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	96562739	121823847	24540175	29	57020											
SFMBT2	57713	broad.mit.edu	37	chr10	7214023	7214023	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccgggccgagggcacctccGccgacgaggtgtccgtctgg	4	5	17	15	6	1	0	0	0	1	0	3	3	3	0	6	4	0	1	6	4	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:7214023G>A	ENST00000361972.4	-	19	2339	c.2249C>T	c.(2248-2250)gCg>gTg	p.A750V	SFMBT2_ENST00000397167.1_Missense_Mutation_p.A750V	NM_001018039.1	NP_001018049.1	Q5VUG0	SMBT2_HUMAN	Scm-like with four mbt domains 2	750					regulation of transcription, DNA-dependent	nucleus				NS(2)|breast(3)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(26)|lung(34)|ovary(5)|pancreas(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	99						GGGCACCTCCGCCGACGAGGT	0.721													A	7214023	G	A	7214023	3	1	763	1	0	0	0	0	1	0	0	0	14251	1087	38	1	447	1	SFMBT2	10	7214023	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		7214023	128320724	30	57021											
ITGA8	8516	broad.mit.edu	37	chr10	15573098	15573098	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gctgatctgtataaggcatcTtcttaacttcaaaggacacc	12	12	7	10	0	4	1	1	1	3	0	4	2	4	2	1	2	1	3	1	2	4	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:15573098T>A	ENST00000378076.3	-	28	3286	c.2933A>T	c.(2932-2934)aAg>aTg	p.K978M		NM_003638.1	NP_003629	P53708	ITA8_HUMAN	integrin, alpha 8	978					cell differentiation|cell-cell adhesion|cell-matrix adhesion|integrin-mediated signaling pathway|nervous system development	integrin complex	receptor activity			NS(2)|breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(57)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	96						ATAAGGCATCTTCTTAACTTC	0.294													A	15573098	T	A	15573098	3	1	763	1	0	0	0	0	1	0	0	0	7940	1609	56	5	270	5	ITGA8	10	15573098	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	8359075	15573098	119961649	31	57022											
CUL2	8453	broad.mit.edu	37	chr10	35324207	35324207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacacagcacggagtaagaCgtacatatttgccatgtctg	12	9	11	9	2	1	1	0	0	1	1	1	3	1	3	1	2	3	3	1	2	3	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:35324207C>T	ENST00000374748.1	-	11	1208	c.895G>A	c.(895-897)Gtc>Atc	p.V299I	CUL2_ENST00000374746.1_Missense_Mutation_p.V299I|CUL2_ENST00000374751.3_Missense_Mutation_p.V299I|CUL2_ENST00000537177.1_Missense_Mutation_p.V318I|CUL2_ENST00000374749.3_Missense_Mutation_p.V299I|CUL2_ENST00000602371.1_Missense_Mutation_p.V242I|CUL2_ENST00000374742.1_Missense_Mutation_p.V299I			Q13617	CUL2_HUMAN	cullin 2	299					cell cycle arrest|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process	cullin-RING ubiquitin ligase complex	ubiquitin protein ligase binding			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|prostate(2)|skin(1)|urinary_tract(2)	31						CGGAGTAAGACGTACATATTT	0.428													T	35324207	C	T	35324207	3	4	763	1	0	0	0	0	1	0	0	0	4088	536	19	1	1390	1	CUL2	10	35324207	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	19751109	35324207	100210540	32	57023											
KCNMA1	3778	broad.mit.edu	37	chr10	78651416	78651416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	caatcagagcctccagctccGgcgtggctcctccggtcacc	6	7	10	18	3	2	1	2	0	0	1	6	1	6	1	6	3	2	2	6	3	1	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:78651416G>A	ENST00000286627.5	-	25	3987	c.3035C>T	c.(3034-3036)cCg>cTg	p.P1012L	KCNMA1_ENST00000404771.3_Missense_Mutation_p.P1070L|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000404857.1_Missense_Mutation_p.P1053L|KCNMA1_ENST00000354353.5_Missense_Mutation_p.P1073L|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.P1074L|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000372440.1_Missense_Mutation_p.P1012L|KCNMA1_ENST00000286628.8_Missense_Mutation_p.P1070L|KCNMA1_ENST00000372443.1_Missense_Mutation_p.P1039L	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1070					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	CTCCAGCTCCGGCGTGGCTCC	0.577													A	78651416	G	A	78651416	3	1	763	1	0	0	0	0	1	0	0	0	8131	1116	39	1	542	1	KCNMA1	10	78651416	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	43327209	78651416	56883331	33	57024											
SLIT1	6585	broad.mit.edu	37	chr10	98766462	98766462	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gcaggcagatggggagggatCtcacagagctgtccactgag	10	6	16	9	0	1	3	1	1	1	2	3	5	2	5	1	4	1	3	1	4	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr10:98766462C>G	ENST00000266058.4	-	32	3602	c.3357G>C	c.(3355-3357)gaG>gaC	p.E1119D	ARHGAP19-SLIT1_ENST00000453547.2_3'UTR|SLIT1_ENST00000371070.4_Missense_Mutation_p.E1119D	NM_003061.2	NP_003052.2	O75093	SLIT1_HUMAN	slit homolog 1 (Drosophila)	1119	EGF-like 5.				axon extension involved in axon guidance|forebrain morphogenesis|motor axon guidance|negative chemotaxis|negative regulation of synaptogenesis	cytoplasm|extracellular space	calcium ion binding|Roundabout binding			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(37)|ovary(5)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	78		Colorectal(252;0.162)		Epithelial(162;2.02e-08)|all cancers(201;1.5e-06)		GGGGAGGGATCTCACAGAGCT	0.577													G	98766462	C	G	98766462	3	3	763	1	0	0	0	0	1	0	0	0	14833	912	32	4	1271	4	SLIT1	10	98766462	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	20115046	98766462	36768285	34	57025											
SIRT3	23410	broad.mit.edu	37	chr11	236177	236177	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgcgggccccatggctgcctCtcagccccgcactcacatcg	5	6	10	20	4	2	0	2	0	1	0	4	0	2	0	5	2	2	2	5	2	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:236177C>G	ENST00000382743.4	-	1	254	c.152G>C	c.(151-153)aGa>aCa	p.R51T	SIRT3_ENST00000529382.1_Intron|SIRT3_ENST00000525319.1_Intron|SIRT3_ENST00000524564.1_Missense_Mutation_p.R51T|SIRT3_ENST00000528702.1_Intron|SIRT3_ENST00000532956.1_Missense_Mutation_p.R51T	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIRT3_HUMAN	sirtuin 3	51					chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|protein binding|zinc ion binding			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		ATGGCTGCCTCTCAGCCCCGC	0.726													G	236177	C	G	236177	3	3	763	1	0	0	0	0	1	0	0	0	14433	913	32	4	1075	4	SIRT3	11	236177	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		236177	134770339	35	57026											
OR4P4	81300	broad.mit.edu	37	chr11	55405846	55405846	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggaccatggaaaaaagcAataatagcactttgtttatt	16	12	7	6	0	0	0	0	0	0	0	0	2	0	2	1	2	2	3	1	2	7	6			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:55405846A>C	ENST00000314612.2	+	1	13	c.13A>C	c.(13-15)Aat>Cat	p.N5H		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	5					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GGAAAAAAGCAATAATAGCAC	0.308													C	55405846	A	C	55405846	3	2	763	1	0	0	0	0	1	0	0	0	11156	130	5	5	15	5	OR4P4	11	55405846	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	55169669	55405846	79600670	36	57027											
MS4A6A	64231	broad.mit.edu	37	chr11	59949056	59949056	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttctgaattagatttacccCaataactttgatttctgcgt	10	17	6	8	1	2	3	0	2	2	1	2	3	2	3	2	0	3	1	2	0	5	7			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:59949056C>A	ENST00000528851.1	-	2	285	c.145G>T	c.(145-147)Ggg>Tgg	p.G49W	MS4A6A_ENST00000533023.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000323961.3_Missense_Mutation_p.G49W|MS4A6A_ENST00000426738.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000530839.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000532169.1_Missense_Mutation_p.G49W|MS4A6A_ENST00000420732.2_Missense_Mutation_p.G49W|MS4A6A_ENST00000412309.2_Missense_Mutation_p.G77W|MS4A6A_ENST00000529054.1_Missense_Mutation_p.G77W			Q9H2W1	M4A6A_HUMAN	membrane-spanning 4-domains, subfamily A, member 6A	49						integral to membrane	receptor activity			endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						AGATTTACCCCAATAACTTTG	0.478													A	59949056	C	A	59949056	3	1	763	1	0	0	0	0	1	0	0	0	9940	594	21	4	652	4	MS4A6A	11	59949056	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4543210	59949056	75057460	37	57028											
AHNAK	79026	broad.mit.edu	37	chr11	62292927	62292927	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcccttgaggtcaccttccaCtttgggcagagaaatatcca	10	10	9	12	0	1	2	1	1	0	1	3	3	3	2	4	2	0	1	4	2	2	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:62292927C>T	ENST00000378024.4	-	5	9236	c.8962G>A	c.(8962-8964)Gtg>Atg	p.V2988M	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2988					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCACCTTCCACTTTGGGCAGA	0.522													T	62292927	C	T	62292927	3	4	763	1	0	0	0	0	1	0	0	0	414	565	20	2	8830	2	AHNAK	11	62292927	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	2343871	62292927	72713589	38	57029											
GDPD4	220032	broad.mit.edu	37	chr11	76928312	76928315	+	Splice_Site	DEL	ATCT	ATCT	-																															ggtttcatggctatgtgcaaAtctatctatctatctatctt																										TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:76928312_76928315delATCT	ENST00000376217.2	-	17	1791_1792	c.1541_1542delAGAT	c.(1540-1542)aag>a	p.K514fs	GDPD4_ENST00000315938.4_3'UTR			Q6W3E5	GDPD4_HUMAN	glycerophosphodiester phosphodiesterase domain containing 4	514					glycerol metabolic process|lipid metabolic process	integral to membrane	glycerophosphodiester phosphodiesterase activity|metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|prostate(1)|skin(1)	20						CTATGTGCAAatctatctatctat	0.471													-	76928315	ATCT	-	76928312	8	5	763	1	0	1	0	1	0	0	1	0	6382	116	4	0		0	GDPD4	11	76928312	Splice_Site	DEL	ATCT	TCGA-TQ-A7RJ-01A-11D-A33T-08	14635385	76928312	58078204	39	57030											
KCTD21	283219	broad.mit.edu	37	chr11	77885166	77885166	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaggtgctgaagatgttggcGttgaagacctccatgctgga	9	10	15	7	1	0	4	0	2	0	2	1	6	1	5	2	3	2	4	2	3	2	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:77885166G>A	ENST00000340067.3	-	2	713	c.435C>T	c.(433-435)aaC>aaT	p.N145N	KCTD21-AS1_ENST00000600795.1_RNA	NM_001029859.1	NP_001025030.1	Q4G0X4	KCD21_HUMAN	potassium channel tetramerization domain containing 21	145						voltage-gated potassium channel complex	voltage-gated potassium channel activity			breast(1)|endometrium(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(2)	11	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.46e-24)			AGATGTTGGCGTTGAAGACCT	0.552													A	77885166	G	A	77885166	2	1	763	1	0	0	0	0	0	0	0	1	8167	1136	40	1		1	KCTD21	11	77885166	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	956854	77885166	57121350	40	57031											
HEPHL1	341208	broad.mit.edu	37	chr11	93754555	93754555	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgcctcggaagcagccagcTggctgcatctttctcctcac	7	10	9	15	1	3	0	1	0	2	0	5	1	3	1	3	2	5	4	3	2	1	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:93754555T>A	ENST00000315765.9	+	1	29	c.21T>A	c.(19-21)gcT>gcA	p.A7A		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	7					copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				AGCAGCCAGCTGGCTGCATCT	0.537													A	93754555	T	A	93754555	2	1	763	1	0	0	0	0	0	0	0	1	7110	1567	55	5		5	HEPHL1	11	93754555	Silent	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	15869389	93754555	41251961	41	57032											
BIRC3	330	broad.mit.edu	37	chr11	102206866	102206866	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcaagagaactgattgatacGattttagtaaaaggaaatat	18	11	9	3	1	0	3	0	2	0	1	0	6	0	4	0	1	2	2	0	1	8	6			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:102206866G>A	ENST00000263464.3	+	7	4244	c.1494G>A	c.(1492-1494)acG>acA	p.T498T	BIRC3_ENST00000532808.1_Silent_p.T498T	NM_001165.4	NP_001156.1	Q13489	BIRC3_HUMAN	baculoviral IAP repeat containing 3	498	CARD.				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway	cytoplasm|nucleus	protein binding|ubiquitin-protein ligase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(7)|lung(5)|ovary(3)|skin(1)	21	all_cancers(8;0.00044)|all_epithelial(12;0.00348)|Lung NSC(15;0.227)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0093)	Lung(13;0.109)|LUSC - Lung squamous cell carcinoma(19;0.151)	BRCA - Breast invasive adenocarcinoma(274;0.0146)		TGATTGATACGATTTTAGTAA	0.348			T	MALT1	MALT								A	102206866	G	A	102206866	2	1	763	1	0	0	0	0	0	0	0	1	1442	1045	37	1		1	BIRC3	11	102206866	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	8452311	102206866	32799650	42	57033											
FLI1	2313	broad.mit.edu	37	chr11	128642720	128642720	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgtgaggcaatggctggaGtgggccataaaggagtacag	12	7	16	6	0	0	1	0	1	0	0	0	3	0	3	1	5	1	3	1	5	4	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr11:128642720G>C	ENST00000527786.2	+	4	918	c.429G>C	c.(427-429)gaG>gaC	p.E143D	FLI1_ENST00000534087.2_Missense_Mutation_p.E110D|FLI1_ENST00000281428.8_Missense_Mutation_p.E77D|FLI1_ENST00000344954.6_Missense_Mutation_p.E110D|FLI1_ENST00000525560.1_Intron	NM_001271010.1|NM_002017.4	NP_001257939.1|NP_002008.2	Q01543	FLI1_HUMAN	Fli-1 proto-oncogene, ETS transcription factor		PNT.				hemostasis|organ morphogenesis	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		EWSR1/FLI1(2569)	NS(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(2)	31	all_hematologic(175;0.0641)	Lung NSC(97;0.00588)|all_lung(97;0.00764)|Breast(109;0.0115)|Medulloblastoma(222;0.0523)|all_neural(223;0.0862)|all_hematologic(192;0.182)		OV - Ovarian serous cystadenocarcinoma(99;0.01)|LUSC - Lung squamous cell carcinoma(976;0.0324)|Lung(977;0.0327)		AATGGCTGGAGTGGGCCATAA	0.512			T	EWSR1	Ewing sarcoma								C	128642720	G	C	128642720	3	2	763	1	0	0	0	0	1	0	0	0	5973	1020	36	4	443	4	FLI1	11	128642720	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	26435854	128642720	6363796	43	57034											
ZMYM2	7750	broad.mit.edu	37	chr13	20641084	20641084	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctttcaaatatacgtatggcGtaaatgcatggaaacactgg	14	11	9	7	2	1	0	1	0	0	0	1	1	1	1	0	3	3	3	0	3	7	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:20641084G>A	ENST00000382869.3	+	20	3477	c.3226G>A	c.(3226-3228)Gta>Ata	p.V1076I	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.V1076I|ZMYM2_ENST00000382874.2_Missense_Mutation_p.V1076I	NM_001190965.1|NM_003453.3|NM_197968.2	NP_001177894.1|NP_003444.1|NP_932072.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1076					regulation of transcription, DNA-dependent|transcription, DNA-dependent	PML body	ubiquitin conjugating enzyme binding|zinc ion binding			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACGTATGGCGTAAATGCATG	0.373													A	20641084	G	A	20641084	3	1	763	1	0	0	0	0	1	0	0	0	17801	1145	40	1	3296	1	ZMYM2	13	20641084	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		20641084	94528794	44	57035											
IPO5	3843	broad.mit.edu	37	chr13	98658520	98658520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagcacatcgttgagaatgCggttcaaaaagaactgagac	16	7	11	7	2	1	3	1	2	0	3	2	6	1	3	0	1	3	3	0	1	5	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr13:98658520C>T	ENST00000261574.5	+	17	1868	c.1688C>T	c.(1687-1689)gCg>gTg	p.A563V	IPO5_ENST00000490680.1_Missense_Mutation_p.A545V|IPO5_ENST00000539640.1_Missense_Mutation_p.A420V|IPO5_ENST00000493492.2_3'UTR	NM_002271.4	NP_002262.3	O00410	IPO5_HUMAN	importin 5	545					interspecies interaction between organisms|NLS-bearing substrate import into nucleus|ribosomal protein import into nucleus	cytoplasm|nuclear pore|nucleolus	GTPase inhibitor activity|protein transporter activity|Ran GTPase binding			breast(2)|endometrium(2)|large_intestine(8)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	27						GTTGAGAATGCGGTTCAAAAA	0.378													T	98658520	C	T	98658520	3	4	763	1	0	0	0	0	1	0	0	0	7854	768	27	1	1746	1	IPO5	13	98658520	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	78017436	98658520	16511358	45	57036											
PARP2	10038	broad.mit.edu	37	chr14	20825295	20825295	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctaaagaatacaggactgcTgctcttatcagaggtgagac	13	9	10	9	0	2	3	1	1	1	3	2	5	2	4	1	2	3	2	1	2	5	3			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:20825295T>C	ENST00000527915.1	+	14	1459	c.1454T>C	c.(1453-1455)cTg>cCg	p.L485P	PARP2_ENST00000429687.3_Missense_Mutation_p.L472P|PARP2_ENST00000250416.5_Missense_Mutation_p.L485P			Q9UGN5	PARP2_HUMAN	poly (ADP-ribose) polymerase 2	485	PARP catalytic.				protein ADP-ribosylation	nucleolus|nucleoplasm	DNA binding|NAD+ ADP-ribosyltransferase activity			central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	15	all_cancers(95;0.00092)	all_lung(585;0.235)	Epithelial(56;5.34e-07)|all cancers(55;3.7e-06)	GBM - Glioblastoma multiforme(265;0.00888)|READ - Rectum adenocarcinoma(17;0.0649)		ACAGGACTGCTGCTCTTATCA	0.403								Poly(ADP-ribose) polymerase (PARP) enzymes that bind to DNA					C	20825295	T	C	20825295	3	2	763	1	0	0	0	0	1	0	0	0	11537	1580	55	3	1508	3	PARP2	14	20825295	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		20825295	86524245	46	57037											
ERO1L	30001	broad.mit.edu	37	chr14	53113132	53113132	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgacatttaaaacaaccaacAcaatccataattcttgaaat	19	10	2	10	1	1	1	0	1	1	0	2	2	2	1	2	0	3	0	2	0	7	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:53113132A>G	ENST00000395686.3	-	14	1396	c.1173T>C	c.(1171-1173)tgT>tgC	p.C391C		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	391					chaperone mediated protein folding requiring cofactor|electron transport chain|protein thiol-disulfide exchange|response to temperature stimulus|transport	endoplasmic reticulum lumen|endoplasmic reticulum membrane|microsome	disulfide oxidoreductase activity|flavin adenine dinucleotide binding|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AACAACCAACACAATCCATAA	0.294													G	53113132	A	G	53113132	2	3	763	1	0	0	0	0	0	0	0	1	5280	157	6	3		3	ERO1L	14	53113132	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	32287837	53113132	54236408	47	57038											
RCOR1	23186	broad.mit.edu	37	chr14	103174893	103174893	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgtgatggatcgccatgcccGgaaacaaaaacgggagcggg	12	5	15	9	4	0	1	0	1	0	0	1	4	0	4	2	4	4	0	2	4	3	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr14:103174893G>A	ENST00000262241.6	+	6	978	c.752G>A	c.(751-753)cGg>cAg	p.R251Q	RCOR1_ENST00000570597.1_Missense_Mutation_p.R248Q	NM_015156.3	NP_055971.2	Q9UKL0	RCOR1_HUMAN	REST corepressor 1	248	Interaction with HDAC1.				blood coagulation|histone H4 deacetylation|interspecies interaction between organisms	transcriptional repressor complex	protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription regulatory region DNA binding			NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	12						CGCCATGCCCGGAAACAAAAA	0.463													A	103174893	G	A	103174893	3	1	763	1	0	0	0	0	1	0	0	0	13270	1116	39	1	765	1	RCOR1	14	103174893	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	50061761	103174893	4174647	48	57039											
FMN1	342184	broad.mit.edu	37	chr15	33149252	33149252	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctctagtttgtccttgaaagGctggagatactcctttgggg	7	14	12	8	0	1	2	0	1	1	1	3	3	3	2	2	4	1	2	2	4	3	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:33149252G>C	ENST00000334528.9	-	13	3222	c.3223C>G	c.(3223-3225)Cct>Gct	p.P1075A	FMN1_ENST00000561249.1_Missense_Mutation_p.P1200A|FMN1_ENST00000559047.1_Missense_Mutation_p.P1298A	NM_001103184.2	NP_001096654.1	Q68DA7	FMN1_HUMAN	formin 1	1298	FH2.				actin cytoskeleton organization	actin cytoskeleton|adherens junction|cytoplasm|nucleus	actin binding			endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	29		all_lung(180;1.14e-07)		all cancers(64;3.05e-15)|Epithelial(43;1.67e-10)|GBM - Glioblastoma multiforme(186;4.95e-05)|BRCA - Breast invasive adenocarcinoma(123;0.0262)		TCCTTGAAAGGCTGGAGATAC	0.443													C	33149252	G	C	33149252	3	2	763	1	0	0	0	0	1	0	0	0	5998	1203	42	4	387	4	FMN1	15	33149252	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		33149252	69382140	49	57040											
DUOX1	53905	broad.mit.edu	37	chr15	45445612	45445612	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccatgtggtgaatgtgtaCctgttctccatcagccccct	6	12	10	13	0	2	1	1	1	1	0	3	1	2	1	5	2	2	2	5	2	2	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr15:45445612C>A	ENST00000321429.4	+	27	3866	c.3459C>A	c.(3457-3459)taC>taA	p.Y1153*	DUOX1_ENST00000561166.1_Nonsense_Mutation_p.Y799*|DUOX1_ENST00000389037.3_Nonsense_Mutation_p.Y1153*|DUOX1_ENST00000559221.1_3'UTR|CTD-2651B20.1_ENST00000558039.1_lincRNA	NM_017434.3	NP_059130.2	Q9NRD9	DUOX1_HUMAN	dual oxidase 1	1153	Ferric oxidoreductase.|Interaction with TXNDC11 (By similarity).				cuticle development|cytokine-mediated signaling pathway|hormone biosynthetic process|hydrogen peroxide biosynthetic process|hydrogen peroxide catabolic process|response to cAMP|superoxide anion generation	apical plasma membrane|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|NAD(P)H oxidase activity|NADP binding|peroxidase activity			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(5)|large_intestine(13)|lung(16)|ovary(6)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(1)	57		all_cancers(109;5.7e-11)|all_epithelial(112;4.65e-09)|Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;5.77e-18)|GBM - Glioblastoma multiforme(94;5.11e-07)|COAD - Colon adenocarcinoma(120;0.071)|Colorectal(133;0.0717)		TGAATGTGTACCTGTTCTCCA	0.552													A	45445612	C	A	45445612	4	1	763	1	0	0	0	0	0	1	0	0	4839	518	18	4	3557	4	DUOX1	15	45445612	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	12296360	45445612	57085780	50	57041											
POLR2A	5430	broad.mit.edu	37	chr17	7415831	7415831	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttcagcacccagtcccAtgggtggaatctctcctgcc	6	11	10	14	0	2	0	1	0	1	0	5	1	4	1	4	3	2	2	4	3	1	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7415831A>T	ENST00000322644.6	+	27	4927	c.4528A>T	c.(4528-4530)Atg>Ttg	p.M1510L		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	1510					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				ACCCAGTCCCATGGGTGGAAT	0.557													T	7415831	A	T	7415831	3	4	763	1	0	0	0	0	1	0	0	0	12291	217	8	5	4634	5	POLR2A	17	7415831	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		7415831	73779379	51	57042											
TP53	7157	broad.mit.edu	37	chr17	7577022	7577022	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtcctgcttgcttacctcGcttagtgctccctgggggca	3	14	11	13	1	0	0	0	0	0	0	3	0	2	0	3	2	4	5	3	2	2	4	rs121913344		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7577022G>A	ENST00000420246.2	-	8	1048	c.916C>T	c.(916-918)Cga>Tga	p.R306*	TP53_ENST00000359597.4_Nonsense_Mutation_p.R306*|TP53_ENST00000455263.2_Nonsense_Mutation_p.R306*|TP53_ENST00000269305.4_Nonsense_Mutation_p.R306*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R306*|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	306	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		R -> P (in LFS; germline mutation and in a sporadic cancer; somatic mutation).|R -> Q (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.R306*(133)|p.0?(8)|p.?(3)|p.R306fs*39(2)|p.K305fs*1(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)		TGCTTACCTCGCTTAGTGCTC	0.562	R306*(HCC1937_BREAST)|R306*(JURLMK1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(MFE296_ENDOMETRIUM)|R306*(MOLT4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R306*(RCM1_LARGE_INTESTINE)	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)			A	7577022	G	A	7577022	4	1	763	1	0	0	0	0	0	1	0	0	16482	1095	38	1	370	1	TP53	17	7577022	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	161191	7577022	73618188	52	57043											
TP53	7157	broad.mit.edu	37	chr17	7579328	7579328	+	Frame_Shift_Del	DEL	T	T	-																															tgaccgtgcaagtcacagacTtggctgtcccagaatgcaag																										TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:7579328delT	ENST00000420246.2	-	4	491	c.359delA	c.(358-360)aagfs	p.K120fs	TP53_ENST00000269305.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.K120fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.K120fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.K120fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	120	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.	Interaction with DNA.	K -> E (in sporadic cancers; somatic mutation).|K -> M (in sporadic cancers; somatic mutation).|K -> Q (in a sporadic cancer; somatic mutation).|K -> R (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.0?(8)|p.K120M(5)|p.G59fs*23(3)|p.K120R(2)|p.V73fs*9(1)|p.K120fs*3(1)|p.G105_T125del21(1)|p.G112_V122delGFLHSGTAKSV(1)|p.T118fs*27(1)|p.H115fs*27(1)|p.Y107fs*44(1)|p.P13fs*18(1)|p.S33fs*23(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)		AGTCACAGACTTGGCTGTCCC	0.567		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)			-	7579328	T	-	7579328	7	5	763	1	0	1	0	1	0	0	0	0	16482	1609	56	0	943	0	TP53	17	7579328	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	2306	7579328	73615882	53	57044											
CNTD1	124817	broad.mit.edu	37	chr17	40957798	40957800	+	In_Frame_Del	DEL	AAG	AAG	-																															tctaggctatctacacactaAagaagaactgctggaatcag																										TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:40957798_40957800delAAG	ENST00000588408.1	+	4	752_754	c.476_478delAAG	c.(475-480)aaagaa>aaa	p.E161del	CNTD1_ENST00000315066.5_3'UTR|CNTD1_ENST00000588527.1_In_Frame_Del_p.E78del	NM_173478.2	NP_775749.2	Q8N815	CNTD1_HUMAN	cyclin N-terminal domain containing 1	161	Cyclin N-terminal.									central_nervous_system(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	10		Breast(137;0.00104)		BRCA - Breast invasive adenocarcinoma(366;0.0749)		CTACACACTAAAGAAGAACTGCT	0.419													-	40957800	AAG	-	40957798	7	5	763	1	0	1	0	1	0	0	0	0	3666	14	1	0	490	0	CNTD1	17	40957798	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RJ-01A-11D-A33T-08	33378470	40957798	40237412	54	57045											
BPTF	2186	broad.mit.edu	37	chr17	65899908	65899908	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatgcatgaattcttaggttAcaccggatgacatcaattga	13	13	8	7	1	2	3	1	3	1	0	2	4	2	4	1	2	2	2	1	2	5	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:65899908A>G	ENST00000321892.4	+	10	2986	c.2925A>G	c.(2923-2925)ttA>ttG	p.L975L	BPTF_ENST00000306378.6_Silent_p.L849L|BPTF_ENST00000335221.5_Silent_p.L975L|BPTF_ENST00000424123.3_Silent_p.L836L			Q12830	BPTF_HUMAN	bromodomain PHD finger transcription factor	975					brain development|chromatin remodeling|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|NURF complex	sequence-specific DNA binding|transcription factor binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(23)|ovary(3)|pancreas(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	78	all_cancers(12;6e-11)		BRCA - Breast invasive adenocarcinoma(8;7.48e-08)|Colorectal(3;0.0984)|LUSC - Lung squamous cell carcinoma(166;0.24)			TTCTTAGGTTACACCGGATGA	0.333													G	65899908	A	G	65899908	2	3	763	1	0	0	0	0	0	0	0	1	1504	388	14	3		3	BPTF	17	65899908	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	24942110	65899908	15295302	55	57046											
BAHCC1	57597	broad.mit.edu	37	chr17	79410429	79410429	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggagaggccggactgtgcccGcagcagggagcacgacacca	10	2	16	13	3	0	1	0	0	0	1	0	5	0	3	3	4	3	3	3	4	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr17:79410429G>A	ENST00000307745.7	+	9	2054	c.2054G>A	c.(2053-2055)cGc>cAc	p.R685H																								GACTGTGCCCGCAGCAGGGAG	0.682													A	79410429	G	A	79410429	3	1	763	1	0	0	0	0	1	0	0	0	1301	1087	38	1	1903	1	BAHCC1	17	79410429	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	13510521	79410429	1784781	56	57047											
PTPRM	5797	broad.mit.edu	37	chr18	8370965	8370965	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accctaatagaaacagaactActggcagaatatgtgataag	18	8	8	7	0	0	4	0	1	0	3	0	4	0	4	1	1	3	1	1	1	8	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:8370965A>G	ENST00000332175.8	+	22	4130	c.3093A>G	c.(3091-3093)ctA>ctG	p.L1031L	PTPRM_ENST00000400060.4_Silent_p.L1045L|PTPRM_ENST00000444013.1_Silent_p.L818L|PTPRM_ENST00000580170.1_Silent_p.L1044L|PTPRM_ENST00000400053.4_Silent_p.L969L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1031	Tyrosine-protein phosphatase 1.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				AAACAGAACTACTGGCAGAAT	0.343													G	8370965	A	G	8370965	2	3	763	1	0	0	0	0	0	0	0	1	12894	378	14	3		3	PTPRM	18	8370965	Silent	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08		8370965	69706283	57	57048											
DSC1	1823	broad.mit.edu	37	chr18	28728468	28728468	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aatgtgaacttaccggatcgGcaattttcaggcacagtaaa	14	10	9	8	2	1	1	1	1	0	0	2	2	1	2	1	3	2	3	1	3	6	4	rs138689452		TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr18:28728468G>A	ENST00000257197.3	-	6	1026	c.765C>T	c.(763-765)tgC>tgT	p.C255C	RP11-408H20.2_ENST00000581836.1_RNA|DSC1_ENST00000257198.5_Silent_p.C255C	NM_004948.3	NP_004939.1	Q08554	DSC1_HUMAN	desmocollin 1	255	Cadherin 2.				homophilic cell adhesion	desmosome|gap junction|integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(20)|ovary(3)|skin(10)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			OV - Ovarian serous cystadenocarcinoma(10;0.00778)			TACCGGATCGGCAATTTTCAG	0.328													A	28728468	G	A	28728468	2	1	763	1	0	0	0	0	0	0	0	1	4804	1195	42	2		2	DSC1	18	28728468	Silent	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	20357503	28728468	49348780	58	57049											
GTF2F1	2962	broad.mit.edu	37	chr19	6391946	6391946	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaagttgactttgtcggcTgcattaaaagccatgatgtt	11	13	10	7	1	0	2	0	2	0	0	1	2	0	2	1	1	2	5	1	1	3	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:6391946T>C	ENST00000394456.5	-	3	563	c.99A>G	c.(97-99)gcA>gcG	p.A33A	GTF2F1_ENST00000429701.2_Silent_p.A5A	NM_002096.2	NP_002087.2	P35269	T2FA_HUMAN	general transcription factor IIF, polypeptide 1, 74kDa	33					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|response to virus|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|viral reproduction	cell junction|transcription factor TFIIF complex	catalytic activity|DNA binding|phosphatase activator activity|transcription coactivator activity|transcription factor binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(4)	16						CTTTGTCGGCTGCATTAAAAG	0.443													C	6391946	T	C	6391946	2	2	763	1	0	0	0	0	0	0	0	1	6913	1567	55	3		3	GTF2F1	19	6391946	Silent	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08		6391946	52737037	59	57050											
MUC16	94025	broad.mit.edu	37	chr19	9075042	9075042	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacctttgctaaagagagtgGtcttctctgagtatgtaaat	11	14	10	6	0	2	2	0	1	2	1	3	4	2	2	1	1	1	3	1	1	5	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:9075042G>A	ENST00000397910.4	-	3	12607	c.12404C>T	c.(12403-12405)aCc>aTc	p.T4135I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	4137	Ser-rich.|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						AAAGAGAGTGGTCTTCTCTGA	0.502													A	9075042	G	A	9075042	3	1	763	1	0	0	0	0	1	0	0	0	10049	1261	44	2	31447	2	MUC16	19	9075042	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	2683096	9075042	50053941	60	57051											
NWD1	284434	broad.mit.edu	37	chr19	16902375	16902375	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaacacctacctgtgccgTctcagtccagaagcaaggaa	14	6	9	12	1	1	2	1	0	1	2	3	3	2	3	4	1	4	1	4	1	5	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:16902375T>C	ENST00000524140.2	+	14	3573	c.3155T>C	c.(3154-3156)gTc>gCc	p.V1052A	NWD1_ENST00000339803.6_Missense_Mutation_p.V917A|NWD1_ENST00000379808.3_Missense_Mutation_p.V1052A|NWD1_ENST00000552788.1_Missense_Mutation_p.V1052A|NWD1_ENST00000549814.1_Missense_Mutation_p.V1052A|NWD1_ENST00000523826.1_Missense_Mutation_p.V846A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1052							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ACCTGTGCCGTCTCAGTCCAG	0.478													C	16902375	T	C	16902375	3	2	763	1	0	0	0	0	1	0	0	0	10857	1667	58	3	2788	3	NWD1	19	16902375	Missense_Mutation	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	7827333	16902375	42226608	61	57052											
RASGRP4	115727	broad.mit.edu	37	chr19	38912756	38912756	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacttggcggggccggcctcGccctcctatttttccggtgc	2	11	12	16	4	0	0	0	0	0	0	3	0	2	0	5	5	1	0	5	5	1	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:38912756G>A	ENST00000454404.2	-	2	274	c.61C>T	c.(61-63)Cga>Tga	p.R21*	RASGRP4_ENST00000586305.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587738.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000587753.1_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000426920.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000433821.2_Nonsense_Mutation_p.R21*|RASGRP4_ENST00000293062.9_Nonsense_Mutation_p.R21*	NM_001146205.1|NM_170604.2	NP_001139677.1|NP_733749.1	Q8TDF6	GRP4_HUMAN	RAS guanyl releasing protein 4	21					activation of phospholipase C activity|cell growth|cell proliferation|myeloid cell differentiation|positive regulation of Ras protein signal transduction|regulation of G-protein coupled receptor protein signaling pathway|response to extracellular stimulus|small GTPase mediated signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cytoplasm|membrane fraction|plasma membrane|soluble fraction	diacylglycerol binding|GTP-dependent protein binding|metal ion binding|Ras guanyl-nucleotide exchange factor activity			cervix(1)|kidney(1)|large_intestine(4)|lung(12)|pancreas(1)|prostate(3)|skin(1)	23	all_cancers(60;4.21e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			GGCCGGCCTCGCCCTCCTATT	0.612													A	38912756	G	A	38912756	4	1	763	1	0	0	0	0	0	1	0	0	13165	1095	38	1	2024	1	RASGRP4	19	38912756	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	22010381	38912756	20216227	62	57053											
FCGBP	8857	broad.mit.edu	37	chr19	40366460	40366460	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcgcacgaagctgtccccatCgaaagccagcgagagccctg	10	4	12	15	4	0	1	0	0	0	1	2	4	1	1	4	0	4	2	4	0	2	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:40366460C>T	ENST00000221347.6	-	30	13781	c.13774G>A	c.(13774-13776)Gat>Aat	p.D4592N		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4592	VWFD 11.					extracellular region	protein binding			NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGTCCCCATCGAAAGCCAGC	0.657													T	40366460	C	T	40366460	3	4	763	1	0	0	0	0	1	0	0	0	5827	884	31	1	2471	1	FCGBP	19	40366460	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	1453704	40366460	18762523	63	57054											
C5AR1	728	broad.mit.edu	37	chr19	47823729	47823729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgctccggacgtggagccGcagggccacgcggtccacca	6	4	14	17	5	0	0	0	0	0	0	2	2	2	2	6	4	2	2	6	4	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr19:47823729G>A	ENST00000355085.3	+	2	717	c.695G>A	c.(694-696)cGc>cAc	p.R232H		NM_001736.3	NP_001727.1	P21730	C5AR_HUMAN	complement component 5a receptor 1	232					activation of MAPK activity|activation of phospholipase C activity|cellular defense response|elevation of cytosolic calcium ion concentration|immune response|sensory perception of chemical stimulus	integral to plasma membrane	C5a anaphylatoxin receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)	20		all_cancers(25;2e-09)|all_epithelial(76;9.95e-08)|all_lung(116;7.27e-07)|Lung NSC(112;1.6e-06)|Ovarian(192;0.0139)|all_neural(266;0.026)|Breast(70;0.0503)		all cancers(93;0.000267)|OV - Ovarian serous cystadenocarcinoma(262;0.000618)|Epithelial(262;0.0142)|GBM - Glioblastoma multiforme(486;0.0242)		ACGTGGAGCCGCAGGGCCACG	0.597													A	47823729	G	A	47823729	3	1	763	1	0	0	0	0	1	0	0	0	2303	1087	38	1	700	1	C5AR1	19	47823729	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	7457269	47823729	11305254	64	57055											
SLC24A3	57419	broad.mit.edu	37	chr20	19674050	19674050	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	gctgtggatcgcagccttctCctacatgatggtgtggatgg	6	12	14	9	1	1	1	0	1	1	0	3	3	1	3	2	4	2	2	2	4	1	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:19674050C>G	ENST00000328041.6	+	13	1669	c.1472C>G	c.(1471-1473)tCc>tGc	p.S491C	RP4-718D20.3_ENST00000609846.1_RNA|RP4-718D20.3_ENST00000593770.1_RNA|RP4-718D20.3_ENST00000600889.1_RNA|RP4-718D20.3_ENST00000608476.1_RNA|RP4-718D20.3_ENST00000435992.2_RNA|RP4-718D20.3_ENST00000609610.1_RNA|RP4-718D20.3_ENST00000598694.1_RNA	NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	491						integral to membrane|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						GCAGCCTTCTCCTACATGATG	0.493													G	19674050	C	G	19674050	3	3	763	1	0	0	0	0	1	0	0	0	14561	855	30	4	1522	4	SLC24A3	20	19674050	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		19674050	43351470	65	57056											
TPX2	22974	broad.mit.edu	37	chr20	30363725	30363725	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggagaagagtatgaaaatgCagcaagaggtggtggagatg	15	7	17	2	0	0	5	0	1	0	4	0	7	0	5	0	4	2	3	0	4	5	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:30363725C>T	ENST00000340513.4	+	8	1192	c.664C>T	c.(664-666)Cag>Tag	p.Q222*	TPX2_ENST00000300403.6_Nonsense_Mutation_p.Q222*			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	222					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			TATGAAAATGCAGCAAGAGGT	0.433													T	30363725	C	T	30363725	4	4	763	1	0	0	0	0	0	1	0	0	16533	711	25	2	686	2	TPX2	20	30363725	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	10689675	30363725	32661795	66	57057											
CDH26	60437	broad.mit.edu	37	chr20	58564210	58564210	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	aatgccatggatccagacagCcagataaggtgagaagagag	16	5	13	7	0	0	4	0	1	0	4	1	7	1	5	3	2	2	0	3	2	3	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr20:58564210C>T	ENST00000348616.4	+	9	1575	c.1275C>T	c.(1273-1275)agC>agT	p.S425S	CDH26_ENST00000244047.5_Silent_p.S425S	NM_177980.2	NP_817089.1	Q8IXH8	CAD26_HUMAN	cadherin 26	425	Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(11)|lung(14)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|urinary_tract(1)	44	all_lung(29;0.00963)		BRCA - Breast invasive adenocarcinoma(7;5.58e-09)			ATCCAGACAGCCAGATAAGGT	0.542													T	58564210	C	T	58564210	2	4	763	1	0	0	0	0	0	0	0	1	3140	738	26	2		2	CDH26	20	58564210	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	28200485	58564210	4461310	67	57058											
C22orf23	84645	broad.mit.edu	37	chr22	38343398	38343398	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgggaggcaggtagatgggcGaggctatttgcttggaaggt	8	10	19	4	1	0	1	0	0	0	1	0	4	0	3	0	7	1	4	0	7	3	4			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chr22:38343398G>A	ENST00000249079.2	-	4	495	c.239C>T	c.(238-240)tCg>tTg	p.S80L	C22orf23_ENST00000403305.1_Missense_Mutation_p.S80L|C22orf23_ENST00000403026.1_Missense_Mutation_p.S80L			Q9BZE7	EVG1_HUMAN	chromosome 22 open reading frame 23	80										endometrium(3)|kidney(2)|large_intestine(7)	12	Melanoma(58;0.045)					GTAGATGGGCGAGGCTATTTG	0.607													A	38343398	G	A	38343398	3	1	763	1	0	0	0	0	1	0	0	0	2158	1059	37	1	430	1	C22orf23	22	38343398	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08		38343398	12961168	68	57059											
KLHL34	257240	broad.mit.edu	37	chrX	21675338	21675338	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagccgggcctcgggcaccCgcgccacgtcgggggcaccc	4	3	16	18	6	0	0	0	0	0	0	2	0	0	0	5	4	1	3	5	4	1	1			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:21675338C>T	ENST00000379499.2	-	1	1110	c.569G>A	c.(568-570)cGg>cAg	p.R190Q		NM_153270.1	NP_695002.1	Q8N239	KLH34_HUMAN	kelch-like family member 34	190	BACK.									cervix(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|urinary_tract(1)	26						CTCGGGCACCCGCGCCACGTC	0.697													T	21675338	C	T	21675338	3	4	763	1	0	0	0	0	1	0	0	0	8445	652	23	1	1369	1	KLHL34	23	21675338	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08		21675338	133595222	69	57060											
DGKK	139189	broad.mit.edu	37	chrX	50136278	50136278	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagatgagcaagggacaTgaacaggctgatgaccaatc	16	6	12	7	0	0	6	0	5	0	1	1	7	0	7	1	2	2	2	1	2	4	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:50136278T>C	ENST00000376025.2	-	0	1526							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|diacylglycerol metabolic process|intracellular signal transduction|platelet activation|response to oxidative stress	cytoplasm|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					GCAAGGGACATGAACAGGCTG	0.428													C	50136278	T	C	50136278	1	2	763	0	1	0	0	0	0	0	0	0	4511	1451	51	3		3	DGKK	23	50136278	RNA	SNP	T	TCGA-TQ-A7RJ-01A-11D-A33T-08	28460940	50136278	105134282	70	57061											
APEX2	27301	broad.mit.edu	37	chrX	55033216	55033216	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gctgcctgaggtgatgggctCtgaccactgccctgtgggtg	4	10	16	11	0	1	3	0	3	1	0	1	3	1	3	3	3	2	2	3	3	0	0			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:55033216C>G	ENST00000374987.3	+	6	971	c.905C>G	c.(904-906)tCt>tGt	p.S302C		NM_014481.2	NP_055296.2	Q9UBZ4	APEX2_HUMAN	APEX nuclease (apurinic/apyrimidinic endonuclease) 2	302					cell cycle|DNA recombination|DNA repair	nucleus	DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|endonuclease activity|exonuclease activity|zinc ion binding			breast(1)|endometrium(8)|large_intestine(4)|lung(6)|prostate(1)|urinary_tract(1)	21						GTGATGGGCTCTGACCACTGC	0.587								Other BER factors					G	55033216	C	G	55033216	3	3	763	1	0	0	0	0	1	0	0	0	772	913	32	4	927	4	APEX2	23	55033216	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4896938	55033216	100237344	71	57062											
NLGN3	54413	broad.mit.edu	37	chrX	70367807	70367807	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggcctgtggaccaatacCtgggggtgccctacgcagct	6	8	15	12	1	0	0	0	0	0	0	0	1	0	1	4	5	4	2	4	5	3	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:70367807C>A	ENST00000374051.3	+	2	530	c.208C>A	c.(208-210)Ctg>Atg	p.L70M	NLGN3_ENST00000536169.1_Missense_Mutation_p.L70M|NLGN3_ENST00000358741.3_Missense_Mutation_p.L70M	NM_018977.3	NP_061850.2	Q9NZ94	NLGN3_HUMAN	neuroligin 3	70					neuron cell-cell adhesion|positive regulation of synaptogenesis|receptor-mediated endocytosis|social behavior|synapse assembly	cell surface|endocytic vesicle|integral to plasma membrane|synapse	neurexin binding|receptor activity			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					GGACCAATACCTGGGGGTGCC	0.632													A	70367807	C	A	70367807	3	1	763	1	0	0	0	0	1	0	0	0	10539	680	24	4	210	4	NLGN3	23	70367807	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	15334591	70367807	84902753	72	57063											
ATRX	546	broad.mit.edu	37	chrX	76912144	76912144	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctgaatcttcactgctcaCttgaattttaaaaaatacat	14	16	3	8	0	4	2	2	2	2	0	4	2	4	2	0	0	2	1	0	0	6	6			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76912144C>G	ENST00000373344.5	-	13	4335		c.e13-1		ATRX_ENST00000480283.1_Splice_Site|ATRX_ENST00000395603.3_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TCACTGCTCACTTGaatttta	0.318			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76912144	C	G	76912144	5	3	763	1	0	0	0	0	0	0	1	0	1213	579	20	4	3450	4	ATRX	23	76912144	Splice_Site	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	6544337	76912144	78358416	73	57064											
ATRX	546	broad.mit.edu	37	chrX	76938583	76938583	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattttgatccacagtctctGattgcttagattttggcaat	10	17	7	7	0	1	3	0	2	1	1	3	3	2	3	1	1	1	2	1	1	3	6			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:76938583G>C	ENST00000373344.5	-	9	2379	c.2165C>G	c.(2164-2166)tCa>tGa	p.S722*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.S684*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	722					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)	CACAGTCTCTGATTGCTTAGA	0.358			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						C	76938583	G	C	76938583	4	2	763	1	0	0	0	0	0	1	0	0	1213	1294	45	4	5421	4	ATRX	23	76938583	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	26439	76938583	78331977	74	57065											
XIAP	331	broad.mit.edu	37	chrX	123019612	123019612	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttaatagattaaaaacttttGctaattttccaagtggtagt	14	17	6	4	0	0	1	0	0	0	1	1	1	1	1	1	1	2	2	1	1	8	9			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:123019612G>T	ENST00000371199.3	+	2	399	c.100G>T	c.(100-102)Gct>Tct	p.A34S	XIAP_ENST00000468691.1_Intron|XIAP_ENST00000355640.3_Missense_Mutation_p.A34S|XIAP_ENST00000434753.3_Missense_Mutation_p.A34S	NM_001167.3	NP_001158.2	P98170	XIAP_HUMAN	X-linked inhibitor of apoptosis	34					anti-apoptosis|apoptosis|induction of apoptosis by intracellular signals|response to DNA damage stimulus	cytosol	caspase inhibitor activity|ligase activity|protein binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)	25						AAAAACTTTTGCTAATTTTCC	0.378									X-linked Lymphoproliferative syndrome				T	123019612	G	T	123019612	3	4	763	1	0	0	0	0	1	0	0	0	17530	1319	46	4	102	4	XIAP	23	123019612	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	46081029	123019612	32250948	75	57066											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299762	125299762	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcagatagtgcaccagcctgCgacgcgtcgccggccgcttc	6	7	12	16	6	1	1	1	0	0	1	3	2	1	1	4	1	3	2	4	1	1	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:125299762C>T	ENST00000538699.1	-	2	226	c.146G>A	c.(145-147)cGc>cAc	p.R49H	DCAF12L2_ENST00000360028.2_Missense_Mutation_p.R49H	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	49										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CACCAGCCTGCGACGCGTCGC	0.726													T	125299762	C	T	125299762	3	4	763	1	0	0	0	0	1	0	0	0	4299	768	27	1	1249	1	DCAF12L2	23	125299762	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	2280150	125299762	29970798	76	57067											
ZNF280C	55609	broad.mit.edu	37	chrX	129370527	129370527	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggatttatctgaggaacatCttcactggtctttggttttt	7	18	10	6	0	4	1	1	1	3	0	4	3	4	3	0	4	1	1	0	4	2	6			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:129370527C>A	ENST00000370978.4	-	7	733	c.580G>T	c.(580-582)Gat>Tat	p.D194Y		NM_017666.4	NP_060136.1	Q8ND82	Z280C_HUMAN	zinc finger protein 280C	194	Ser-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(3)|kidney(4)|large_intestine(9)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						TGAGGAACATCTTCACTGGTC	0.363													A	129370527	C	A	129370527	3	1	763	1	0	0	0	0	1	0	0	0	17917	913	32	4	1685	4	ZNF280C	23	129370527	Missense_Mutation	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	4070765	129370527	25900033	77	57068											
GPR101	83550	broad.mit.edu	37	chrX	136113495	136113495	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgacgctggcgaaggcgaaCaggtgggtgaggctaaccag	10	6	17	8	3	0	2	0	2	0	0	0	4	0	2	1	5	2	2	1	5	3	2			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:136113495C>G	ENST00000298110.1	-	1	338	c.339G>C	c.(337-339)ctG>ctC	p.L113L		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	113						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CGAAGGCGAACAGGTGGGTGA	0.612													G	136113495	C	G	136113495	2	3	763	1	0	0	0	0	0	0	0	1	6676	465	17	4		4	GPR101	23	136113495	Silent	SNP	C	TCGA-TQ-A7RJ-01A-11D-A33T-08	6742968	136113495	19157065	78	57069											
MAGEC1	9947	broad.mit.edu	37	chrX	140995747	140995747	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctgagagtcctctccagAgtcctgtgatctccttctcc	5	12	7	17	0	3	3	0	2	3	2	8	4	5	3	7	0	0	0	7	0	0	1	rs139093022	byFrequency	TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:140995747A>G	ENST00000285879.4	+	4	2843	c.2557A>G	c.(2557-2559)Agt>Ggt	p.S853G	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	853							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TCCTCTCCAGAGTCCTGTGAT	0.512										HNSCC(15;0.026)			G	140995747	A	G	140995747	3	3	763	1	0	0	0	0	1	0	0	0	9255	304	11	3	2563	3	MAGEC1	23	140995747	Missense_Mutation	SNP	A	TCGA-TQ-A7RJ-01A-11D-A33T-08	4882252	140995747	14274813	79	57070											
EMD	2010	broad.mit.edu	37	chrX	153608070	153608070	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatcaactcgtaggctttacGagaagaagatcttcgagtac	13	10	10	8	3	2	3	1	0	1	3	4	6	2	3	0	1	3	3	0	1	6	5			TCGA-TQ-A7RJ-01A-11D-A33T-08	TCGA-TQ-A7RJ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	3ae5a9e9-92c4-49fe-835e-0c33f5eeec66	b0ec88a8-f37e-4255-85c0-76539a1f8df5	g.chrX:153608070G>A	ENST00000369842.4	+	2	391	c.103G>A	c.(103-105)Gag>Aag	p.E35K	EMD_ENST00000492448.1_3'UTR|EMD_ENST00000369835.3_Intron	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	35	LEM.				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TAGGCTTTACGAGAAGAAGAT	0.697													A	153608070	G	A	153608070	3	1	763	1	0	0	0	0	1	0	0	0	5128	1059	37	1	109	1	EMD	23	153608070	Missense_Mutation	SNP	G	TCGA-TQ-A7RJ-01A-11D-A33T-08	12612323	153608070	1662490	80	57071											
ARHGAP29	9411	broad.mit.edu	37	chr1	94651006	94651006	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagctgcctttgacatcaaTgttttcttaaatgttccaag	11	15	7	8	0	2	2	1	1	1	1	3	2	3	2	2	0	2	3	2	0	4	5			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr1:94651006T>G	ENST00000260526.6	-	17	1994	c.1812A>C	c.(1810-1812)acA>acC	p.T604T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	604					Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTGACATCAATGTTTTCTTAA	0.348													G	94651006	T	G	94651006	2	3	764	1	0	0	0	0	0	0	0	1	881	1451	51	5		5	ARHGAP29	1	94651006	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08		94651006	154599615	1	57072											
NBAS	51594	broad.mit.edu	37	chr2	15448386	15448386	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgaaacatggggccaatcggGcatagatctggaggctatag	12	8	14	7	1	1	2	0	1	1	1	2	3	1	3	1	5	1	2	1	5	5	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:15448386G>A	ENST00000281513.5	-	40	4776	c.4751C>T	c.(4750-4752)gCc>gTc	p.A1584V	NBAS_ENST00000441750.1_Missense_Mutation_p.A1464V	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1584										NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						GGCCAATCGGGCATAGATCTG	0.473													A	15448386	G	A	15448386	3	1	764	1	0	0	0	0	1	0	0	0	10262	1203	42	2	2416	2	NBAS	2	15448386	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		15448386	227750987	2	57073											
C2orf16	84226	broad.mit.edu	37	chr2	27804618	27804618	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtcccgctcggaggagccatCgcagtccctcagagagaagc	9	5	13	14	3	1	2	1	0	0	2	5	5	3	4	3	2	2	2	3	2	1	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:27804618C>T	ENST00000408964.2	+	1	5230	c.5179C>T	c.(5179-5181)Cgc>Tgc	p.R1727C		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1727	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					GAGGAGCCATCGCAGTCCCTC	0.562													T	27804618	C	T	27804618	3	4	764	1	0	0	0	0	1	0	0	0	2178	884	31	1	5181	1	C2orf16	2	27804618	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	12356232	27804618	215394755	3	57074											
TMEM131	23505	broad.mit.edu	37	chr2	98409857	98409857	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	attgccagcatgtgaacataCtttccttcagatgaaatacc	13	12	6	10	0	1	3	1	2	0	1	2	3	2	3	3	0	5	1	3	0	4	5			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:98409857C>G	ENST00000186436.5	-	30	3774		c.e30+1			NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131							integral to membrane				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						TGTGAACATACTTTCCTTCAG	0.403													G	98409857	C	G	98409857	5	3	764	1	0	0	0	0	0	0	1	0	16144	579	20	4	2153	4	TMEM131	2	98409857	Splice_Site	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	70605239	98409857	144789516	4	57075											
TTN	7273	broad.mit.edu	37	chr2	179605461	179605461	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ctcaggctcttcaggcattaGaataccttctttggagaagg	10	12	10	9	0	4	2	2	0	2	2	4	3	4	2	1	4	1	2	1	4	4	5			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:179605461G>C	ENST00000589042.1	-	48	12723	c.12499C>G	c.(12499-12501)Cta>Gta	p.L4167V	TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L3929V|TTN_ENST00000342992.6_Intron|TTN_ENST00000460472.2_Missense_Mutation_p.L3804V|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L3996V|TTN_ENST00000591111.1_Missense_Mutation_p.L3850V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	3850							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGGCATTAGAATACCTTCT	0.428													C	179605461	G	C	179605461	3	2	764	1	0	0	0	0	1	0	0	0	16837	933	33	4	92290	4	TTN	2	179605461	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	81195604	179605461	63593912	5	57076											
ASNSD1	54529	broad.mit.edu	37	chr2	190531397	190531397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tccagcatctggacttttcaGaattgatcttaagtctactg	10	15	7	9	0	4	2	1	1	3	1	5	3	5	3	1	1	2	1	1	1	3	5			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:190531397G>A	ENST00000260952.4	+	4	952	c.539G>A	c.(538-540)aGa>aAa	p.R180K	ASNSD1_ENST00000607062.1_Intron	NM_019048.2	NP_061921	Q9NWL6	ASND1_HUMAN	asparagine synthetase domain containing 1	180	Glutamine amidotransferase type-2.				asparagine biosynthetic process|glutamine metabolic process		asparagine synthase (glutamine-hydrolyzing) activity			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(3)	25			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0449)|all cancers(119;0.118)			GGACTTTTCAGAATTGATCTT	0.363													A	190531397	G	A	190531397	3	1	764	1	0	0	0	0	1	0	0	0	1054	942	33	2	541	2	ASNSD1	2	190531397	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	10925936	190531397	52667976	6	57077											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	764	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18581716	209113113	34086260	7	57078											
SUMF1	285362	broad.mit.edu	37	chr3	4452611	4452611	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtctgaagtccattcccatgCgttccccactatgttgtata	8	14	7	12	1	1	1	0	1	1	0	4	1	4	1	4	0	1	3	4	0	4	6			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:4452611C>T	ENST00000272902.5	-	7	927	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SUMF1_ENST00000405420.2_Missense_Mutation_p.A298T|SUMF1_ENST00000383843.5_Missense_Mutation_p.A273T|SUMF1_ENST00000458465.2_Missense_Mutation_p.A166T|SUMF1_ENST00000534863.1_Missense_Mutation_p.A298T	NM_182760.3	NP_877437.2	Q8NBK3	SUMF1_HUMAN	sulfatase modifying factor 1	298						endoplasmic reticulum lumen	metal ion binding|oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(3)	13		Melanoma(143;0.068)|Colorectal(144;0.233)		Epithelial(13;0.0147)|OV - Ovarian serous cystadenocarcinoma(96;0.0444)|all cancers(10;0.0549)		CATTCCCATGCGTTCCCCACT	0.423													T	4452611	C	T	4452611	3	4	764	1	0	0	0	0	1	0	0	0	15481	768	27	1	244	1	SUMF1	3	4452611	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		4452611	193569819	8	57079											
RFTN1	23180	broad.mit.edu	37	chr3	16411682	16411685	+	Frame_Shift_Del	DEL	CTGT	CTGT	-																															gttggcgtccaaaccgctcaCtgtctggccattcttggaga																										TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:16411682_16411685delCTGT	ENST00000334133.4	-	6	1200_1203	c.928_931delACAG	c.(928-933)acagtgfs	p.TV310fs	RFTN1_ENST00000432519.1_Frame_Shift_Del_p.TV274fs|RFTN1_ENST00000483671.1_5'UTR	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	310						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AAACCGCTCACTGTCTGGCCATTC	0.51													-	16411685	CTGT	-	16411682	7	5	764	1	0	1	0	1	0	0	0	0	13346	565	20	0	825	0	RFTN1	3	16411682	Frame_Shift_Del	DEL	CTGT	TCGA-TQ-A7RK-01A-11D-A33T-08	11959071	16411682	181610748	9	57080											
LEKR1	389170	broad.mit.edu	37	chr3	156745897	156745897	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatttatcttacagatatcTgacttaatcacaggcgctac	13	13	6	9	1	3	3	1	1	2	2	3	3	3	3	0	1	2	1	0	1	5	6			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr3:156745897T>C	ENST00000470811.1	+	13	1797	c.462T>C	c.(460-462)tcT>tcC	p.S154S	LEKR1_ENST00000356539.4_Silent_p.S458S			D3DNK7	D3DNK7_HUMAN	leucine, glutamate and lysine rich 1	0										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			TACAGATATCTGACTTAATCA	0.343													C	156745897	T	C	156745897	2	2	764	1	0	0	0	0	0	0	0	1	8776	1567	55	3		3	LEKR1	3	156745897	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	140334215	156745897	41276533	10	57081											
C4orf19	55286	broad.mit.edu	37	chr4	37592609	37592609	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tactgcaggagaagatttggAtgagactgattaggggaggg	12	9	17	3	0	0	4	0	2	0	3	0	8	0	6	0	5	2	1	0	5	3	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:37592609A>C	ENST00000284437.6	+	3	1110	c.932A>C	c.(931-933)gAt>gCt	p.D311A	RELL1_ENST00000314117.4_3'UTR|C4orf19_ENST00000508175.1_Intron|C4orf19_ENST00000381980.4_Missense_Mutation_p.D311A	NM_018302.2	NP_060772.2	Q8IY42	CD019_HUMAN	chromosome 4 open reading frame 19	311										large_intestine(1)|lung(3)|skin(3)|stomach(1)|urinary_tract(1)	9						GAAGATTTGGATGAGACTGAT	0.552													C	37592609	A	C	37592609	3	2	764	1	0	0	0	0	1	0	0	0	2275	333	12	5	938	5	C4orf19	4	37592609	Missense_Mutation	SNP	A	TCGA-TQ-A7RK-01A-11D-A33T-08		37592609	153561667	11	57082											
UGT2B15	7366	broad.mit.edu	37	chr4	69519890	69519890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gatccgcaaacaagggaatgCccaccatagggatcccatgg	13	5	11	12	1	0	0	0	0	0	0	2	3	2	2	4	3	2	1	4	3	4	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:69519890C>T	ENST00000338206.5	-	5	1187	c.1178G>A	c.(1177-1179)gGc>gAc	p.G393D		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	393					steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity										CAAGGGAATGCCCACCATAGG	0.463													T	69519890	C	T	69519890	3	4	764	1	0	0	0	0	1	0	0	0	17060	739	26	2	2039	2	UGT2B15	4	69519890	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	31927281	69519890	121634386	12	57083											
KLHL2	11275	broad.mit.edu	37	chr4	166239115	166239115	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gtatgagcacagggagaagtTatgcaggtaacagttgtctc	12	10	13	6	0	1	2	0	1	1	1	2	3	1	2	0	2	3	6	0	2	4	4			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr4:166239115T>G	ENST00000226725.6	+	14	2006	c.1747T>G	c.(1747-1749)Tat>Gat	p.Y583D	KLHL2_ENST00000421009.2_Missense_Mutation_p.Y486D|KLHL2_ENST00000514860.1_Missense_Mutation_p.Y587D|KLHL2_ENST00000538127.1_Missense_Mutation_p.Y495D|KLHL2_ENST00000506761.1_Missense_Mutation_p.Y417D|KLHL2_ENST00000509028.1_3'UTR	NM_007246.3	NP_009177.3	O95198	KLHL2_HUMAN	kelch-like family member 2	583					intracellular protein transport	actin cytoskeleton|cytoplasm	actin binding|transporter activity			endometrium(3)|large_intestine(5)|lung(4)|prostate(1)|urinary_tract(1)	14	all_hematologic(180;0.221)			GBM - Glioblastoma multiforme(119;2.94e-27)|COAD - Colon adenocarcinoma(41;1.4e-05)|Kidney(143;4.95e-05)|KIRC - Kidney renal clear cell carcinoma(143;0.000927)		AGGGAGAAGTTATGCAGGTAA	0.368													G	166239115	T	G	166239115	3	3	764	1	0	0	0	0	1	0	0	0	8432	1754	61	5	1843	5	KLHL2	4	166239115	Missense_Mutation	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	96719225	166239115	24915161	13	57084											
RAD50	10111	broad.mit.edu	37	chr5	131915673	131915673	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaaaagcttgtgagattcGtgatcagattacaagtaagg	15	10	12	4	1	1	3	1	2	0	2	2	5	1	4	0	2	2	2	0	2	5	4	rs28903088	byFrequency	TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr5:131915673G>A	ENST00000378823.3	+	5	1072	c.254G>A	c.(253-255)cGt>cAt	p.R85H	RAD50_ENST00000487596.1_3'UTR|RAD50_ENST00000265335.6_Missense_Mutation_p.R224H	NM_005732.3	NP_005723.2	Q92878	RAD50_HUMAN	RAD50 homolog (S. cerevisiae)	224					DNA duplex unwinding|double-strand break repair via homologous recombination|positive regulation of kinase activity|positive regulation of protein autophosphorylation|reciprocal meiotic recombination|regulation of mitotic recombination|telomere maintenance via telomerase	Mre11 complex|nuclear chromosome, telomeric region|nucleoplasm	ATP binding|DNA binding|nuclease activity|protein binding, bridging|zinc ion binding			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(10)|liver(1)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	36		all_cancers(142;0.0368)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			TGTGAGATTCGTGATCAGATT	0.348								Homologous recombination					A	131915673	G	A	131915673	3	1	764	1	0	0	0	0	1	0	0	0	13072	1145	40	1	689	1	RAD50	5	131915673	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		131915673	48999587	14	57085											
BAK1	578	broad.mit.edu	37	chr6	33543199	33543199	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgatgatggcgagctgccGtcccacctgccccatggtgc	5	7	12	17	3	0	1	0	1	0	0	1	3	1	1	6	2	4	1	6	2	0	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr6:33543199G>A	ENST00000374467.3	-	4	474	c.226C>T	c.(226-228)Cgg>Tgg	p.R76W	BAK1_ENST00000360661.5_Missense_Mutation_p.R76W|BAK1_ENST00000442998.2_Missense_Mutation_p.R76W	NM_001188.3	NP_001179.1	Q16611	BAK_HUMAN	BCL2-antagonist/killer 1	76					activation of pro-apoptotic gene products|cellular response to mechanical stimulus|cellular response to UV|establishment or maintenance of transmembrane electrochemical gradient|induction of apoptosis by extracellular signals|induction of apoptosis by intracellular signals|regulation of mitochondrial membrane permeability|regulation of mitochondrial membrane potential|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|release of cytochrome c from mitochondria	integral to mitochondrial outer membrane|pore complex	metal ion binding|protein heterodimerization activity			large_intestine(1)|lung(1)|ovary(1)|skin(1)	4						GCGAGCTGCCGTCCCACCTGC	0.617													A	33543199	G	A	33543199	3	1	764	1	0	0	0	0	1	0	0	0	1310	1144	40	1	421	1	BAK1	6	33543199	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		33543199	137571868	15	57086											
OR6B1	135946	broad.mit.edu	37	chr7	143701454	143701454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggccgccatggcctatgaccGgtatgtggccatctgtcgcc	5	9	13	14	3	1	1	0	1	1	0	2	1	1	1	6	4	0	1	6	4	2	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr7:143701454G>A	ENST00000408922.2	+	1	433	c.365G>A	c.(364-366)cGg>cAg	p.R122Q		NM_001005281.1	NP_001005281.1	O95007	OR6B1_HUMAN	olfactory receptor, family 6, subfamily B, member 1	122					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(3)|large_intestine(3)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	27	Melanoma(164;0.0783)					GCCTATGACCGGTATGTGGCC	0.522													A	143701454	G	A	143701454	3	1	764	1	0	0	0	0	1	0	0	0	11263	1116	39	1	367	1	OR6B1	7	143701454	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		143701454	15437209	16	57087											
POLR1E	64425	broad.mit.edu	37	chr9	37500851	37500851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtaggtgctctgggacctGgagttccccacatcatcaac	8	11	10	12	0	3	0	2	0	1	0	4	2	4	2	3	3	2	3	3	3	2	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:37500851G>A	ENST00000377792.3	+	9	1375	c.1087G>A	c.(1087-1089)Gga>Aga	p.G363R	POLR1E_ENST00000377798.4_Missense_Mutation_p.G301R|POLR1E_ENST00000442009.2_Missense_Mutation_p.G231R			Q9GZS1	RPA49_HUMAN	polymerase (RNA) I polypeptide E, 53kDa	363					rRNA transcription	cell junction|cytoplasm|nucleolus	DNA binding|DNA-directed RNA polymerase activity|protein binding			autonomic_ganglia(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(1)|prostate(1)|skin(1)|stomach(1)	12				GBM - Glioblastoma multiforme(29;0.00851)|Lung(182;0.229)		TCTGGGACCTGGAGTTCCCCA	0.483													A	37500851	G	A	37500851	3	1	764	1	0	0	0	0	1	0	0	0	12290	1349	47	2	939	2	POLR1E	9	37500851	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		37500851	103712580	17	57088											
COL5A1	1289	broad.mit.edu	37	chr9	137591840	137591840	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctggtctccatctacaaCgagcagggtatccagcagat	10	10	9	12	1	2	1	0	0	2	1	5	2	4	1	3	2	4	3	3	2	3	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr9:137591840C>T	ENST00000371817.3	+	3	777	c.363C>T	c.(361-363)aaC>aaT	p.N121N	COL5A1_ENST00000464187.1_3'UTR	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	121	Laminin G-like.|TSP N-terminal.				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		CCATCTACAACGAGCAGGGTA	0.587													T	137591840	C	T	137591840	2	4	764	1	0	0	0	0	0	0	0	1	3727	535	19	1		1	COL5A1	9	137591840	Silent	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	100090989	137591840	3621591	18	57089											
ALOX5	240	broad.mit.edu	37	chr10	45941070	45941072	+	In_Frame_Del	DEL	AAG	AAG	-																															gcgtgattgctgagcgcaacAagaagaagcagctgccatat																										TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr10:45941070_45941072delAAG	ENST00000374391.2	+	14	2013_2015	c.1960_1962delAAG	c.(1960-1962)aagdel	p.K656del	ALOX5_ENST00000542434.1_In_Frame_Del_p.K599del|RP11-67C2.2_ENST00000435635.1_RNA	NM_000698.3|NM_001256153.1	NP_000689.1|NP_001243082.1	P09917	LOX5_HUMAN	arachidonate 5-lipoxygenase	656	Lipoxygenase.				hormone biosynthetic process|leukotriene biosynthetic process|prostanoid metabolic process	cytosol|nuclear envelope lumen|nuclear matrix|nuclear membrane	arachidonate 5-lipoxygenase activity|iron ion binding|lipoxygenase activity|protein binding			breast(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|pancreas(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		Lung SC(717;0.0257)			Diethylcarbamazine(DB00711)|Hydrocortisone(DB00741)|Leflunomide(DB01097)|Masoprocol(DB00179)|Meclofenamic acid(DB00939)|Minocycline(DB01017)|Montelukast(DB00471)|Quinacrine(DB01103)|Vitamin E(DB00163)|Zileuton(DB00744)	TGAGCGCAACAAGAAGAAGCAGC	0.547													-	45941072	AAG	-	45941070	7	5	764	1	0	1	0	1	0	0	0	0	540	131	5	0	2014	0	ALOX5	10	45941070	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RK-01A-11D-A33T-08		45941070	89593677	19	57090											
OR4A5	81318	broad.mit.edu	37	chr11	51411626	51411626	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	taggaaagtttgaaacaggtCtaacatatatgaaaatacag	19	10	8	4	0	1	2	0	2	1	0	1	3	1	3	0	2	3	1	0	2	9	6			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:51411626C>G	ENST00000319760.6	-	1	822	c.770G>C	c.(769-771)aGa>aCa	p.R257T		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	257					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TGAAACAGGTCTAACATATAT	0.388													G	51411626	C	G	51411626	3	3	764	1	0	0	0	0	1	0	0	0	11119	913	32	4	181	4	OR4A5	11	51411626	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		51411626	83594890	20	57091											
OR5T1	390155	broad.mit.edu	37	chr11	56043714	56043714	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cctcctctgcttgctatttcTtgttctgacactcacgtaat	6	17	5	13	1	4	1	1	1	3	0	5	1	5	1	2	0	2	4	2	0	2	6			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr11:56043714T>C	ENST00000313033.2	+	1	686	c.600T>C	c.(598-600)tcT>tcC	p.S200S		NM_001004745.1	NP_001004745.1	Q8NG75	OR5T1_HUMAN	olfactory receptor, family 5, subfamily T, member 1	200					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.S200S(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(27)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	43	Esophageal squamous(21;0.00448)					TTGCTATTTCTTGTTCTGACA	0.398													C	56043714	T	C	56043714	2	2	764	1	0	0	0	0	0	0	0	1	11257	1596	56	3		3	OR5T1	11	56043714	Silent	SNP	T	TCGA-TQ-A7RK-01A-11D-A33T-08	4632088	56043714	78962802	21	57092											
LRRIQ1	84125	broad.mit.edu	37	chr12	85623368	85623368	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggaatagagaatatacataCcaatggcttcacacacaggt	16	8	8	9	1	1	1	1	0	0	1	1	3	1	2	1	3	2	1	1	3	7	5			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:85623368C>T	ENST00000393217.2	+	25	4957	c.4896C>T	c.(4894-4896)taC>taT	p.Y1632Y	LRRIQ1_ENST00000528777.3_3'UTR	NM_001079910.1	NP_001073379.1	Q96JM4	LRIQ1_HUMAN	leucine-rich repeats and IQ motif containing 1	1632										breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|liver(1)|lung(28)|ovary(5)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	83				GBM - Glioblastoma multiforme(134;0.212)		AATATACATACCAATGGCTTC	0.358													T	85623368	C	T	85623368	2	4	764	1	0	0	0	0	0	0	0	1	9099	518	18	2		2	LRRIQ1	12	85623368	Silent	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		85623368	48228527	22	57093											
C12orf29	91298	broad.mit.edu	37	chr12	88442074	88442076	+	In_Frame_Del	DEL	GTT	GTT	-																															cttacatgaattcaagaccaGttattatcaacatgaacctg																										TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr12:88442074_88442076delGTT	ENST00000356891.3	+	7	1056_1058	c.853_855delGTT	c.(853-855)gttdel	p.V285del		NM_001009894.2	NP_001009894.2	Q8N999	CL029_HUMAN	chromosome 12 open reading frame 29	285										large_intestine(3)|lung(1)|ovary(1)	5						TTCAAGACCAGTTATTATCAACA	0.335													-	88442076	GTT	-	88442074	7	5	764	1	0	1	0	1	0	0	0	0	1693	1029	36	0	879	0	C12orf29	12	88442074	In_Frame_Del	DEL	GTT	TCGA-TQ-A7RK-01A-11D-A33T-08	2818706	88442074	45409821	23	57094											
G2E3	55632	broad.mit.edu	37	chr14	31074772	31074772	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagagttaggattccaaattAaaaaaaaaactaaaagattg	22	10	6	3	0	0	2	0	0	0	2	1	3	1	3	1	1	1	1	1	1	10	6			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr14:31074772A>T	ENST00000206595.6	+	11	1226	c.1072A>T	c.(1072-1074)Aaa>Taa	p.K358*	G2E3_ENST00000553504.1_Nonsense_Mutation_p.K388*|G2E3_ENST00000438909.2_Nonsense_Mutation_p.K312*|G2E3_ENST00000544007.1_Intron	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	358					apoptosis|multicellular organismal development|protein modification process	Golgi apparatus|nucleolus	acid-amino acid ligase activity|protein binding|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ATTCCAAATTAAAAAAAAAAC	0.274													T	31074772	A	T	31074772	4	4	764	1	0	0	0	0	0	1	0	0	6192	363	13	5	1110	5	G2E3	14	31074772	Nonsense_Mutation	SNP	A	TCGA-TQ-A7RK-01A-11D-A33T-08		31074772	76274768	24	57095											
THBS1	7057	broad.mit.edu	37	chr15	39885616	39885616	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggttatgatgagtttaatgCtgtggacttcagtggcacct	9	14	12	6	0	1	2	1	2	0	0	1	3	1	3	1	3	1	4	1	3	2	4			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr15:39885616C>T	ENST00000260356.5	+	19	3179	c.3014C>T	c.(3013-3015)gCt>gTt	p.A1005V		NM_003246.2	NP_003237.2	P07996	TSP1_HUMAN	thrombospondin 1	1005	TSP C-terminal.				activation of MAPK activity|anti-apoptosis|apoptosis|cell adhesion|cell cycle arrest|cell migration|cellular response to heat|chronic inflammatory response|engulfment of apoptotic cell|immune response|induction of apoptosis|negative regulation of angiogenesis|negative regulation of antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|negative regulation of blood vessel endothelial cell migration|negative regulation of caspase activity|negative regulation of cGMP-mediated signaling|negative regulation of dendritic cell antigen processing and presentation|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of fibroblast growth factor receptor signaling pathway|negative regulation of focal adhesion assembly|negative regulation of interleukin-12 production|negative regulation of nitric oxide mediated signal transduction|negative regulation of plasma membrane long-chain fatty acid transport|negative regulation of plasminogen activation|peptide cross-linking|platelet activation|platelet degranulation|positive regulation of angiogenesis|positive regulation of blood vessel endothelial cell migration|positive regulation of fibroblast migration|positive regulation of macrophage activation|positive regulation of macrophage chemotaxis|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of reactive oxygen species metabolic process|positive regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transforming growth factor-beta1 production|positive regulation of translation|positive regulation of tumor necrosis factor biosynthetic process|response to calcium ion|response to drug|response to glucose stimulus|response to hypoxia|response to magnesium ion|response to progesterone stimulus|sprouting angiogenesis	external side of plasma membrane|extracellular matrix|fibrinogen complex|platelet alpha granule lumen	calcium ion binding|collagen V binding|eukaryotic cell surface binding|fibrinogen binding|fibroblast growth factor 2 binding|fibronectin binding|heparin binding|identical protein binding|integrin binding|laminin binding|low-density lipoprotein particle binding|phosphatidylserine binding|proteoglycan binding|structural molecule activity|transforming growth factor beta binding			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(5)|large_intestine(15)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	53		all_cancers(109;1.35e-17)|all_epithelial(112;2.07e-15)|Lung NSC(122;4.44e-11)|all_lung(180;1.11e-09)|Melanoma(134;0.0574)|Colorectal(260;0.117)|Ovarian(310;0.223)		GBM - Glioblastoma multiforme(113;2.77e-06)|BRCA - Breast invasive adenocarcinoma(123;0.105)	Becaplermin(DB00102)	GAGTTTAATGCTGTGGACTTC	0.488													T	39885616	C	T	39885616	3	4	764	1	0	0	0	0	1	0	0	0	15953	797	28	2	3084	2	THBS1	15	39885616	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		39885616	62645776	25	57096											
KLHDC4	54758	broad.mit.edu	37	chr16	87782360	87782360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgctctccgttgggagagGcaaactcccctccaaagacc	10	7	9	15	1	1	2	0	0	1	2	4	3	3	2	5	2	2	3	5	2	2	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr16:87782360G>A	ENST00000270583.5	-	5	483	c.425C>T	c.(424-426)gCc>gTc	p.A142V	KLHDC4_ENST00000347925.5_Missense_Mutation_p.A142V|KLHDC4_ENST00000353170.5_Missense_Mutation_p.A85V	NM_017566.3	NP_060036.2	Q8TBB5	KLDC4_HUMAN	kelch domain containing 4	142										breast(2)|endometrium(3)|lung(10)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(2)	21				BRCA - Breast invasive adenocarcinoma(80;0.0283)		GTTGGGAGAGGCAAACTCCCC	0.547													A	87782360	G	A	87782360	3	1	764	1	0	0	0	0	1	0	0	0	8416	1203	42	2	1165	2	KLHDC4	16	87782360	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		87782360	2572393	26	57097											
TP53	7157	broad.mit.edu	37	chr17	7577548	7577548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgggcctccggttcatgcCgcccatgcaggaactgttac	7	9	12	13	2	1	0	1	0	0	0	2	2	2	1	4	3	4	3	4	3	2	2	rs28934575		TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:7577548C>T	ENST00000420246.2	-	7	865	c.733G>A	c.(733-735)Ggc>Agc	p.G245S	TP53_ENST00000413465.2_Missense_Mutation_p.G245S|TP53_ENST00000455263.2_Missense_Mutation_p.G245S|TP53_ENST00000359597.4_Missense_Mutation_p.G245S|TP53_ENST00000445888.2_Missense_Mutation_p.G245S|TP53_ENST00000269305.4_Missense_Mutation_p.G245S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	245	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		G -> A (in sporadic cancers; somatic mutation).|G -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> D (in LFS; germline mutation and in sporadic cancers; somatic mutation).|G -> E (in a sporadic cancer; somatic mutation).|G -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> H (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|G -> L (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> N (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|G -> R (in sporadic cancers; somatic mutation).|G -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934575).|G -> V (in LFS; 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.G245S(304)|p.G245C(59)|p.G245R(10)|p.G152S(8)|p.0?(8)|p.?(5)|p.G152C(4)|p.G244_M246>V(3)|p.G245N(2)|p.G245fs*2(2)|p.G245H(1)|p.G245L(1)|p.G244fs*17(1)|p.G245F(1)|p.C242_M246>L(1)|p.C238_M246delCNSSCMGGM(1)|p.G245fs*22(1)|p.S241_G245delSCMGG(1)|p.C242fs*98(1)|p.M243fs*18(1)|p.G151_M153>V(1)|p.G245del(1)|p.G245fs*14(1)|p.G245fs*17(1)|p.G245fs*16(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)		CGGTTCATGCCGCCCATGCAG	0.577	G245S(LS1034_LARGE_INTESTINE)|G245S(NUGC2_STOMACH)|G245S(PANC0403_PANCREAS)|G245S(SKLMS1_SOFT_TISSUE)|G245S(SKMEL2_SKIN)	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)			T	7577548	C	T	7577548	3	4	764	1	0	0	0	0	1	0	0	0	16482	652	23	1	557	1	TP53	17	7577548	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		7577548	73617662	27	57098											
WFIKKN2	124857	broad.mit.edu	37	chr17	48917204	48917204	+	Frame_Shift_Del	DEL	C	C	-																															ttcacctggcccaacaccagCcccccaccacctgagaccac																										TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:48917204delC	ENST00000311378.4	+	2	1083	c.555delC	c.(553-555)agcfs	p.S185fs	WFIKKN2_ENST00000426127.1_Frame_Shift_Del_p.S92fs	NM_175575.5	NP_783165.1	Q8TEU8	WFKN2_HUMAN	WAP, follistatin/kazal, immunoglobulin, kunitz and netrin domain containing 2	185						extracellular region	metalloendopeptidase inhibitor activity|protein binding|serine-type endopeptidase inhibitor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(13)|ovary(4)|skin(1)	29			BRCA - Breast invasive adenocarcinoma(22;1.09e-08)			CCAACACCAGCCCCCCACCAC	0.627													-	48917204	C	-	48917204	7	5	764	1	0	1	0	1	0	0	0	0	17461	738	26	0	561	0	WFIKKN2	17	48917204	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RK-01A-11D-A33T-08	41339656	48917204	32278006	28	57099											
GH2	2689	broad.mit.edu	37	chr17	61958759	61958759	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgccagctggtacaggcgaCgggcgcggagcatagcgttg	8	6	17	10	5	0	0	0	0	0	0	0	2	0	1	1	4	5	4	1	4	2	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr17:61958759C>T	ENST00000332800.7	-	2	264	c.131G>A	c.(130-132)cGt>cAt	p.R44H	GH2_ENST00000423893.2_Missense_Mutation_p.R44H|GH2_ENST00000456543.2_Missense_Mutation_p.R44H|GH2_ENST00000449787.2_Missense_Mutation_p.R44H	NM_002059.4|NM_022557.3|NM_022558.3	NP_002050.1|NP_072051.1|NP_072052.1	P01242	SOM2_HUMAN	growth hormone 2	44				Missing (in Ref. 6; AA sequence).		extracellular region	hormone activity			breast(3)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	24						GTACAGGCGACGGGCGCGGAG	0.572													T	61958759	C	T	61958759	3	4	764	1	0	0	0	0	1	0	0	0	6424	536	19	1	875	1	GH2	17	61958759	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	13041555	61958759	19236451	29	57100											
KCTD1	284252	broad.mit.edu	37	chr18	24128223	24128225	+	In_Frame_Del	DEL	TCC	TCC	-																															ccagccccatctcctcctctTcctcctcctcctcgtcctcc																										TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:24128223_24128225delTCC	ENST00000417602.1	-	1	275_277	c.276_278delGGA	c.(274-279)gaggaa>gaa	p.92_93EE>E	KCTD1_ENST00000408011.3_Intron|KCTD1_ENST00000579973.1_Intron|KCTD1_ENST00000317932.7_Intron	NM_001142730.2	NP_001136202.1	Q719H9	KCTD1_HUMAN	potassium channel tetramerization domain containing 1	0	BTB.				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|voltage-gated potassium channel complex	transcription corepressor activity|transcription factor binding|voltage-gated potassium channel activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(3)	12	all_cancers(21;0.00191)|Lung NSC(5;0.000698)|all_lung(6;0.0019)|Ovarian(20;0.0848)		Epithelial(2;7.8e-06)|OV - Ovarian serous cystadenocarcinoma(3;9.02e-06)|all cancers(3;3.37e-05)			ctcctcctcttcctcctcctcct	0.655													-	24128225	TCC	-	24128223	7	5	764	1	0	1	0	1	0	0	0	0	8154	1783	62	0	2339	0	KCTD1	18	24128223	In_Frame_Del	DEL	TCC	TCGA-TQ-A7RK-01A-11D-A33T-08		24128223	53949025	30	57101											
SETBP1	26040	broad.mit.edu	37	chr18	42532372	42532372	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agaagaagcgtggtaggcctGcaaaaaccaatgacaccatg	16	5	11	9	1	0	3	0	1	0	2	0	3	0	3	3	2	3	2	3	2	6	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr18:42532372G>A	ENST00000282030.5	+	4	3363	c.3067G>A	c.(3067-3069)Gca>Aca	p.A1023T		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1023						nucleus	DNA binding			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		TGGTAGGCCTGCAAAAACCAA	0.448									Schinzel-Giedion syndrome				A	42532372	G	A	42532372	3	1	764	1	0	0	0	0	1	0	0	0	14222	1319	46	2	3270	2	SETBP1	18	42532372	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18404149	42532372	35544876	31	57102											
DOCK6	57572	broad.mit.edu	37	chr19	11346350	11346350	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagctgtgggcagtgaccGcgggcatcctgggctgcctc	4	7	16	14	2	0	1	0	1	0	0	2	1	1	1	4	3	2	4	4	3	0	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:11346350G>T	ENST00000294618.7	-	21	2489	c.2478C>A	c.(2476-2478)cgC>cgA	p.R826R	DOCK6_ENST00000319867.7_Silent_p.R130R	NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	826			R -> C (in dbSNP:rs35881692).		blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGCAGTGACCGCGGGCATCCT	0.617													T	11346350	G	T	11346350	2	4	764	1	0	0	0	0	0	0	0	1	4730	1074	38	4		4	DOCK6	19	11346350	Silent	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		11346350	47782633	32	57103											
SLC1A6	6511	broad.mit.edu	37	chr19	15061177	15061177	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccaattgagtcccccagtaCgttggtcattgtgcgaagcc	8	11	10	12	2	1	1	1	1	0	0	3	2	3	1	4	1	3	2	4	1	3	4			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:15061177C>T	ENST00000430939.2	-	9	1462	c.1333G>A	c.(1333-1335)Gta>Ata	p.V445I	SLC1A6_ENST00000221742.3_Missense_Mutation_p.V509I|SLC1A6_ENST00000600144.1_Missense_Mutation_p.V431I			P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	509					synaptic transmission	integral to plasma membrane|membrane fraction	high-affinity glutamate transmembrane transporter activity|L-aspartate transmembrane transporter activity|sodium:dicarboxylate symporter activity	p.V509I(1)		breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42					L-Glutamic Acid(DB00142)	TCCCCCAGTACGTTGGTCATT	0.577													T	15061177	C	T	15061177	3	4	764	1	0	0	0	0	1	0	0	0	14530	536	19	1	173	1	SLC1A6	19	15061177	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	3714827	15061177	44067806	33	57104											
CPAMD8	27151	broad.mit.edu	37	chr19	17038819	17038819	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgtgggacagacgcacCgatgatggaggcggtggctc	8	6	18	9	3	0	2	0	1	0	1	1	5	0	4	1	6	0	3	1	6	0	0			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr19:17038819C>T	ENST00000443236.1	-	25	3542	c.3511G>A	c.(3511-3513)Ggg>Agg	p.G1171R		NM_015692.2	NP_056507.2	Q8IZJ3	CPMD8_HUMAN	C3 and PZP-like, alpha-2-macroglobulin domain containing 8	1124						extracellular space|plasma membrane	serine-type endopeptidase inhibitor activity			breast(11)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(17)|lung(14)|ovary(7)|pancreas(2)|prostate(4)|skin(5)	82						ACAGACGCACCGATGATGGAG	0.637													T	17038819	C	T	17038819	5	4	764	1	0	0	0	0	0	0	1	0	3826	666	23	1	2359	1	CPAMD8	19	17038819	Splice_Site	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	1977642	17038819	42090164	34	57105											
ZNF512B	57473	broad.mit.edu	37	chr20	62597735	62597735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	aggtacgggtttggtgaccgGcacagacttggtgactgtga	8	10	16	7	2	0	4	0	3	0	1	0	4	0	4	1	5	1	3	1	5	1	3			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr20:62597735G>A	ENST00000450537.1	-	5	853	c.793C>T	c.(793-795)Ccg>Tcg	p.P265S	ZNF512B_ENST00000217130.3_Missense_Mutation_p.P265S|ZNF512B_ENST00000369888.1_Missense_Mutation_p.P265S			Q96KM6	Z512B_HUMAN	zinc finger protein 512B	265					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TTGGTGACCGGCACAGACTTG	0.572													A	62597735	G	A	62597735	3	1	764	1	0	0	0	0	1	0	0	0	18058	1203	42	2	1937	2	ZNF512B	20	62597735	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		62597735	427785	35	57106											
KRTAP10-1	386677	broad.mit.edu	37	chr21	45959819	45959819	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	acgagggcgtgcaggagctgGtgcagcctgattggcagggg	7	6	20	8	2	0	1	0	1	0	0	0	3	0	2	1	6	4	4	1	6	0	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr21:45959819G>A	ENST00000400375.1	-	1	259	c.215C>T	c.(214-216)aCc>aTc	p.T72I	TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	72	24 X 5 AA repeats of C-C-X(3).					keratin filament				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						GCAGGAGCTGGTGCAGCCTGA	0.711													A	45959819	G	A	45959819	3	1	764	1	0	0	0	0	1	0	0	0	8563	1261	44	2	637	2	KRTAP10-1	21	45959819	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08		45959819	2170076	36	57107											
MN1	4330	broad.mit.edu	37	chr22	28195603	28195605	+	In_Frame_Del	DEL	TGC	TGC	-																															acctctcaaagaacacaccaTgctgctgctgctgctgctgg																										TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:28195603_28195605delTGC	ENST00000302326.4	-	1	1881_1883	c.927_929delGCA	c.(925-930)cagcat>cat	p.Q309del		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	309							binding			NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GAACACACCAtgctgctgctgct	0.64			T	ETV6	"AML, meningioma"								-	28195605	TGC	-	28195603	7	5	764	1	0	1	0	1	0	0	0	0	9749	1464	51	0	3041	0	MN1	22	28195603	In_Frame_Del	DEL	TGC	TCGA-TQ-A7RK-01A-11D-A33T-08		28195603	23108963	37	57108											
PPARA	5465	broad.mit.edu	37	chr22	46627789	46627789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacaaggaggcggaggtccGcatctttcactgctgccagt	9	8	13	11	2	2	0	1	0	1	0	3	3	3	2	2	4	3	2	2	4	2	1			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chr22:46627789G>A	ENST00000396000.2	+	7	1077	c.812G>A	c.(811-813)cGc>cAc	p.R271H	PPARA_ENST00000434345.2_3'UTR|PPARA_ENST00000262735.5_Missense_Mutation_p.R271H|PPARA_ENST00000402126.1_Missense_Mutation_p.R271H|PPARA_ENST00000407236.1_Missense_Mutation_p.R271H			Q07869	PPARA_HUMAN	peroxisome proliferator-activated receptor alpha	271					fatty acid metabolic process|fatty acid transport|negative regulation of appetite|negative regulation of cholesterol storage|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|positive regulation of fatty acid beta-oxidation|regulation of cellular ketone metabolic process by positive regulation of transcription from an RNA polymerase II promoter|regulation of glycolysis by positive regulation of transcription from an RNA polymerase II promoter|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	drug binding|ligand-regulated transcription factor activity|lipid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|ubiquitin conjugating enzyme binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	15		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00522)	Atorvastatin(DB01076)|Bezafibrate(DB01393)|Clofibrate(DB00636)|Fenofibrate(DB01039)|Gemfibrozil(DB01241)|Simvastatin(DB00641)	GCGGAGGTCCGCATCTTTCAC	0.557													A	46627789	G	A	46627789	3	1	764	1	0	0	0	0	1	0	0	0	12374	1087	38	1	830	1	PPARA	22	46627789	Missense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	18432186	46627789	4676777	38	57109											
MXRA5	25878	broad.mit.edu	37	chrX	3235706	3235706	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatggaaagggtccggttttCgtgcagggtgatgcggccct	6	10	17	8	3	0	1	0	1	0	0	2	3	1	2	2	5	2	2	2	5	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:3235706C>T	ENST00000217939.6	-	6	6170	c.6016G>A	c.(6016-6018)Gaa>Aaa	p.E2006K		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	2006	Ig-like C2-type 4.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GTCCGGTTTTCGTGCAGGGTG	0.622													T	3235706	C	T	3235706	3	4	764	1	0	0	0	0	1	0	0	0	10079	893	31	1	2478	1	MXRA5	23	3235706	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08		3235706	152034854	39	57110											
ATRX	546	broad.mit.edu	37	chrX	76909614	76909614	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcactggatgaatcttcttGaaccttaatacgtcgccttt	9	16	6	10	2	3	2	1	2	2	0	4	3	3	3	2	1	2	0	2	1	4	6			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:76909614G>A	ENST00000373344.5	-	14	4505	c.4291C>T	c.(4291-4293)Caa>Taa	p.Q1431*	ATRX_ENST00000395603.3_Nonsense_Mutation_p.Q1393*|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1431					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)	GAATCTTCTTGAACCTTAATA	0.353			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76909614	G	A	76909614	4	1	764	1	0	0	0	0	0	1	0	0	1213	1299	45	2	3275	2	ATRX	23	76909614	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RK-01A-11D-A33T-08	73673908	76909614	78360946	40	57111											
UBE2NL	389898	broad.mit.edu	37	chrX	142967509	142967509	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccccagccctgcagatcCgcacagttctgctatcgatc	7	9	9	16	2	1	1	0	0	1	1	5	2	3	1	4	1	3	4	4	1	1	2			TCGA-TQ-A7RK-01A-11D-A33T-08	TCGA-TQ-A7RK-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ee20c616-5ca0-4b81-81a0-fe1551e6f760	4a8c0837-95d6-428f-af78-778185c83361	g.chrX:142967509C>T	ENST00000370494.1	+	1	337	c.307C>T	c.(307-309)Cgc>Tgc	p.R103C		NM_001012989.1	NP_001013007.1	Q5JXB2	UE2NL_HUMAN	ubiquitin-conjugating enzyme E2N-like	103							acid-amino acid ligase activity	p.R103C(1)		breast(1)|endometrium(1)|large_intestine(8)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)	24	Acute lymphoblastic leukemia(192;6.56e-05)					CCTGCAGATCCGCACAGTTCT	0.423													T	142967509	C	T	142967509	3	4	764	1	0	0	0	0	1	0	0	0	16969	652	23	1	309	1	UBE2NL	23	142967509	Missense_Mutation	SNP	C	TCGA-TQ-A7RK-01A-11D-A33T-08	66057895	142967509	12303051	41	57112											
FBXO42	54455	broad.mit.edu	37	chr1	16577865	16577865	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gatctggtagtgatcctcgtCggggggccaaagaaagtcct	9	9	14	9	2	1	2	0	1	1	1	5	3	3	2	3	4	0	1	3	4	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:16577865C>T	ENST00000375592.3	-	10	1670	c.1454G>A	c.(1453-1455)cGa>cAa	p.R485Q		NM_018994.1	NP_061867.1	Q6P3S6	FBX42_HUMAN	F-box protein 42	485										autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	26		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00475)|all_lung(284;0.00671)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0193)|Colorectal(212;3.16e-07)|COAD - Colon adenocarcinoma(227;1.46e-05)|BRCA - Breast invasive adenocarcinoma(304;4.37e-05)|Kidney(64;0.000246)|KIRC - Kidney renal clear cell carcinoma(64;0.00336)|STAD - Stomach adenocarcinoma(313;0.0139)|READ - Rectum adenocarcinoma(331;0.0693)		TGATCCTCGTCGGGGGGCCAA	0.483													T	16577865	C	T	16577865	3	4	765	1	0	0	0	0	1	0	0	0	5800	884	31	1	703	1	FBXO42	1	16577865	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		16577865	232672756	1	57113											
KIF2C	11004	broad.mit.edu	37	chr1	45223763	45223763	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaatcaaccctgctaccggaAgttgggcctggaagtctatg	10	9	12	10	1	2	0	1	0	1	0	2	3	2	2	3	3	3	2	3	3	6	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:45223763A>G	ENST00000372217.1	+	12	1364	c.1013A>G	c.(1012-1014)aAg>aGg	p.K338R	KIF2C_ENST00000372224.4_Missense_Mutation_p.K392R|KIF2C_ENST00000372218.4_Missense_Mutation_p.K351R|KIF2C_ENST00000372222.3_Missense_Mutation_p.K279R			Q99661	KIF2C_HUMAN	kinesin family member 2C	392	Kinesin-motor.				blood coagulation|cell division|cell proliferation|chromosome segregation|establishment or maintenance of microtubule cytoskeleton polarity|microtubule depolymerization|microtubule-based movement|mitotic prometaphase|regulation of chromosome segregation	condensed chromosome kinetochore|cytosol|kinesin complex|microtubule|nucleus	ATP binding|centromeric DNA binding|microtubule motor activity|microtubule plus-end binding			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|ovary(1)|skin(1)|urinary_tract(1)	34	Acute lymphoblastic leukemia(166;0.155)					TGCTACCGGAAGTTGGGCCTG	0.522													G	45223763	A	G	45223763	3	3	765	1	0	0	0	0	1	0	0	0	8357	72	3	3	1225	3	KIF2C	1	45223763	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	28645898	45223763	204026858	2	57114											
C8B	732	broad.mit.edu	37	chr1	57397487	57397487	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	tttccaattaacttactcttCcgataggagacctcacaggc	11	12	6	12	1	2	1	1	0	1	1	4	3	4	1	3	2	2	0	3	2	4	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:57397487C>T	ENST00000543257.1	-	12	2027	c.1461G>A	c.(1459-1461)cgG>cgA	p.R487R	C8B_ENST00000535057.1_Silent_p.R477R|C8B_ENST00000371237.4_Silent_p.R539R	NM_001278543.1	NP_001265472.1	P07358	CO8B_HUMAN	complement component 8, beta polypeptide	539	MACPF.				complement activation, alternative pathway|complement activation, classical pathway|cytolysis	membrane attack complex				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(20)|ovary(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	52						ACTTACTCTTCCGATAGGAGA	0.502													T	57397487	C	T	57397487	2	4	765	1	0	0	0	0	0	0	0	1	2441	842	30	2		2	C8B	1	57397487	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12173724	57397487	191853134	3	57115											
GFI1	2672	broad.mit.edu	37	chr1	92941692	92941692	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttgaagcctgtgtgtttgCggctgtgggtgatgaggttg	4	14	18	5	1	0	3	0	3	0	0	0	3	0	3	1	3	2	4	1	3	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:92941692C>T	ENST00000370332.1	-	7	1481	c.1163G>A	c.(1162-1164)cGc>cAc	p.R388H	GFI1_ENST00000427103.1_Missense_Mutation_p.R388H|GFI1_ENST00000294702.5_Missense_Mutation_p.R388H	NM_001127215.1	NP_001120687.1	Q99684	GFI1_HUMAN	growth factor independent 1 transcription repressor	388					negative regulation of calcidiol 1-monooxygenase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|regulation of transcription involved in G1/S phase of mitotic cell cycle|transcription, DNA-dependent|viral reproduction	nucleus	protein binding|transcription regulatory region DNA binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	15		all_lung(203;0.00292)|Lung NSC(277;0.0115)|all_neural(321;0.185)|Glioma(108;0.203)		OV - Ovarian serous cystadenocarcinoma(397;9.04e-07)|Epithelial(280;1.17e-05)|all cancers(265;5.61e-05)|GBM - Glioblastoma multiforme(16;0.0191)		TGTGTGTTTGCGGCTGTGGGT	0.622													T	92941692	C	T	92941692	3	4	765	1	0	0	0	0	1	0	0	0	6395	768	27	1	109	1	GFI1	1	92941692	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	35544205	92941692	156308929	4	57116											
LRRC39	127495	broad.mit.edu	37	chr1	100621829	100621829	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagggattgtagtaaaatcGttcatactcagatcaaggtg	14	11	11	5	1	3	2	3	0	0	2	4	3	3	3	0	2	1	3	0	2	5	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:100621829G>A	ENST00000370138.1	-	7	756	c.558C>T	c.(556-558)aaC>aaT	p.N186N	LRRC39_ENST00000370137.1_Silent_p.N186N|LRRC39_ENST00000342895.3_Silent_p.N186N	NM_001256385.1	NP_001243314.1	Q96DD0	LRC39_HUMAN	leucine rich repeat containing 39	186										endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(1)	13		all_epithelial(167;0.000542)|all_lung(203;0.0154)|Lung NSC(277;0.0155)		Epithelial(280;0.0826)|all cancers(265;0.135)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		TAGTAAAATCGTTCATACTCA	0.383													A	100621829	G	A	100621829	2	1	765	1	0	0	0	0	0	0	0	1	9065	1136	40	1		1	LRRC39	1	100621829	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	7680137	100621829	148628792	5	57117											
OTUD7B	56957	broad.mit.edu	37	chr1	149919215	149919215	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctatgcagcagatgcaatttGacctctagggacagaattac	13	10	9	9	0	1	3	0	1	1	2	1	4	1	4	1	1	4	3	1	1	5	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:149919215G>A	ENST00000369135.4	-	11	1554	c.1260C>T	c.(1258-1260)gtC>gtT	p.V420V		NM_020205.2	NP_064590.2	Q6GQQ9	OTU7B_HUMAN	OTU domain containing 7B		Catalytic.				negative regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|microtubule cytoskeleton|nucleus	cysteine-type peptidase activity|DNA binding|protein binding|zinc ion binding			breast(1)|endometrium(6)|kidney(2)|large_intestine(5)|lung(18)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Breast(34;0.0009)|Ovarian(49;0.0265)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)|STAD - Stomach adenocarcinoma(528;0.247)			GATGCAATTTGACCTCTAGGG	0.418													A	149919215	G	A	149919215	2	1	765	1	0	0	0	0	0	0	0	1	11395	1277	45	2		2	OTUD7B	1	149919215	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	49297386	149919215	99331406	6	57118											
FLG2	388698	broad.mit.edu	37	chr1	152324115	152324115	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatccggcttggccatgagcGtgtcctgaatgtgtgtgtga	6	12	15	8	2	0	3	0	3	0	0	2	4	2	3	3	2	1	1	3	2	1	1	rs146074268		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152324115G>A	ENST00000388718.5	-	3	6219	c.6147C>T	c.(6145-6147)caC>caT	p.H2049H	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	2049							calcium ion binding|structural molecule activity			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GGCCATGAGCGTGTCCTGAAT	0.532													A	152324115	G	A	152324115	2	1	765	1	0	0	0	0	0	0	0	1	5972	1136	40	1		1	FLG2	1	152324115	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2404900	152324115	96926506	7	57119											
LCE1C	353133	broad.mit.edu	37	chr1	152777784	152777784	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagctggagccacagctgccCccagagctggagccacagca	10	3	13	15	0	0	1	0	0	0	1	0	4	0	3	4	2	7	4	4	2	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:152777784C>T	ENST00000368768.1	-	2	221	c.171G>A	c.(169-171)ggG>ggA	p.G57G	LCE1C_ENST00000607093.1_Silent_p.G57G	NM_178351.3	NP_848128.1	Q5T751	LCE1C_HUMAN	late cornified envelope 1C	57	Gly-rich.				keratinization					NS(1)|lung(4)|prostate(1)|skin(2)|urinary_tract(1)	9	Lung NSC(65;9.06e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			CACAGCTGCCCCCAGAGCTGG	0.667													T	152777784	C	T	152777784	2	4	765	1	0	0	0	0	0	0	0	1	8720	610	22	2		2	LCE1C	1	152777784	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	453669	152777784	96472837	8	57120											
THBS3	7059	broad.mit.edu	37	chr1	155166890	155166890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgataggaggtcttgtcccGccagcccacatttcgtgggt	6	10	13	12	3	1	0	0	0	1	0	3	2	2	1	3	3	1	0	3	3	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:155166890G>A	ENST00000368378.3	-	21	2634	c.2614C>T	c.(2614-2616)Cgg>Tgg	p.R872W	THBS3_ENST00000541990.1_Missense_Mutation_p.R401W|RP11-263K19.4_ENST00000447623.1_RNA|THBS3_ENST00000457183.2_Missense_Mutation_p.R752W|THBS3_ENST00000541576.1_Missense_Mutation_p.R269W	NM_001252607.1|NM_007112.4	NP_001239536.1|NP_009043.1	P49746	TSP3_HUMAN	thrombospondin 3	872	TSP C-terminal.				cell-matrix adhesion	extracellular region|perinuclear region of cytoplasm	calcium ion binding|heparin binding|structural molecule activity			breast(6)|endometrium(4)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(3)	48	all_epithelial(22;5.72e-28)|all_lung(78;2.07e-24)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GTCTTGTCCCGCCAGCCCACA	0.622													A	155166890	G	A	155166890	3	1	765	1	0	0	0	0	1	0	0	0	15955	1086	38	1	268	1	THBS3	1	155166890	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2389106	155166890	94083731	9	57121											
HHIPL2	79802	broad.mit.edu	37	chr1	222721259	222721259	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	gcccgtaatccaggcactggGggtgtccctgcagcaagccc	7	6	13	15	1	0	0	0	0	0	0	2	0	2	0	4	3	3	4	4	3	2	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:222721259G>T	ENST00000343410.6	-	1	186	c.128C>A	c.(127-129)cCc>cAc	p.P43H		NM_024746.3	NP_079022.2	Q6UWX4	HIPL2_HUMAN	HHIP-like 2	43					carbohydrate metabolic process	extracellular region	oxidoreductase activity, acting on the CH-OH group of donors, quinone or similar compound as acceptor|quinone binding			NS(2)|endometrium(8)|kidney(4)|large_intestine(7)|lung(28)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	59				GBM - Glioblastoma multiforme(131;0.0185)		CAGGCACTGGGGGTGTCCCTG	0.602													T	222721259	G	T	222721259	3	4	765	1	0	0	0	0	1	0	0	0	7149	1232	43	4	2082	4	HHIPL2	1	222721259	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	67554369	222721259	26529362	10	57122											
OR2G2	81470	broad.mit.edu	37	chr1	247752473	247752473	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccagccaagagtagatccaGggaccagggcaagtttgttt	11	8	13	9	0	0	2	0	0	0	2	1	3	1	3	4	2	1	4	4	2	3	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr1:247752473G>A	ENST00000320065.1	+	1	812	c.812G>A	c.(811-813)aGg>aAg	p.R271K	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	271					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			AGTAGATCCAGGGACCAGGGC	0.478													A	247752473	G	A	247752473	3	1	765	1	0	0	0	0	1	0	0	0	11074	1000	35	2	814	2	OR2G2	1	247752473	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	25031214	247752473	1498148	11	57123											
C2orf16	84226	broad.mit.edu	37	chr2	27804907	27804907	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctcttggagaggagccatcGcagtccctctgagaggagat	9	9	13	10	1	2	3	0	1	2	3	5	7	3	4	2	3	1	1	2	3	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:27804907G>A	ENST00000408964.2	+	1	5519	c.5468G>A	c.(5467-5469)cGc>cAc	p.R1823H		NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1823	27 X 8 AA approximative tandem repeat of P-S-E-R-S-H-H-S.|Arg-rich.									breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					AGGAGCCATCGCAGTCCCTCT	0.552													A	27804907	G	A	27804907	3	1	765	1	0	0	0	0	1	0	0	0	2178	1087	38	1	5470	1	C2orf16	2	27804907	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		27804907	215394466	12	57124											
SOS1	6654	broad.mit.edu	37	chr2	39283896	39283896	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtaatttcataatgccGtatatttcttacataattcc	11	20	3	7	1	2	0	1	0	1	0	3	0	3	0	2	0	2	2	2	0	6	11			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:39283896G>A	ENST00000426016.1	-	5	543	c.457C>T	c.(457-459)Cgg>Tgg	p.R153W	SOS1_ENST00000428721.2_Missense_Mutation_p.R96W|SOS1_ENST00000395038.2_Missense_Mutation_p.R153W|SOS1_ENST00000402219.2_Missense_Mutation_p.R153W			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	153					apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				TCATAATGCCGTATATTTCTT	0.308									Noonan syndrome				A	39283896	G	A	39283896	3	1	765	1	0	0	0	0	1	0	0	0	15030	1144	40	1	3624	1	SOS1	2	39283896	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	11478989	39283896	203915477	13	57125											
SPTBN1	6711	broad.mit.edu	37	chr2	54877008	54877008	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccaaggagatctttgggcGtatacaggacaaacacaaga	15	7	11	8	1	1	2	0	0	1	2	1	4	1	3	1	3	3	1	1	3	5	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:54877008G>A	ENST00000333896.5	+	25	5805	c.5420G>A	c.(5419-5421)cGt>cAt	p.R1807H	SPTBN1_ENST00000356805.4_Missense_Mutation_p.R1820H	NM_178313.2	NP_842565.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	1820	Interaction with ANK2.				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			ATCTTTGGGCGTATACAGGAC	0.483													A	54877008	G	A	54877008	3	1	765	1	0	0	0	0	1	0	0	0	15215	1145	40	1	5670	1	SPTBN1	2	54877008	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	15593112	54877008	188322365	14	57126											
TGOLN2	10618	broad.mit.edu	37	chr2	85554507	85554507	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgctgtcttttgtggtctgCgcctccgaacccgacttgct	3	14	11	13	3	2	0	0	0	2	0	3	2	3	0	3	1	4	2	3	1	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:85554507C>T	ENST00000377386.3	-	2	810	c.348G>A	c.(346-348)gcG>gcA	p.A116A	TGOLN2_ENST00000398263.2_Silent_p.A116A|TGOLN2_ENST00000409015.1_Silent_p.A116A|TGOLN2_ENST00000409232.3_Silent_p.A116A|TGOLN2_ENST00000444342.2_Silent_p.A116A|TGOLN2_ENST00000282120.2_Intron			O43493	TGON2_HUMAN	trans-golgi network protein 2	116	14 X 14 AA tandem repeats.					integral to membrane|nucleus|plasma membrane|trans-Golgi network|transport vesicle	protein binding										TTGTGGTCTGCGCCTCCGAAC	0.572													T	85554507	C	T	85554507	2	4	765	1	0	0	0	0	0	0	0	1	15936	755	27	1		1	TGOLN2	2	85554507	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	30677499	85554507	157644866	15	57127											
ZAP70	7535	broad.mit.edu	37	chr2	98349621	98349621	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagctgaaggcggacgggCtcatctactgcctgaaggag	10	7	15	9	2	2	3	1	3	1	0	2	5	2	5	1	4	3	2	1	4	4	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:98349621C>G	ENST00000264972.5	+	6	951	c.736C>G	c.(736-738)Ctc>Gtc	p.L246V	ZAP70_ENST00000442208.1_Missense_Mutation_p.L120V|ZAP70_ENST00000463643.1_3'UTR	NM_001079.3	NP_001070.2	P43403	ZAP70_HUMAN	zeta-chain (TCR) associated protein kinase 70kDa	246	SH2 2.				immune response|intracellular protein kinase cascade|positive thymic T cell selection|T cell receptor signaling pathway	cytosol|T cell receptor complex	ATP binding|non-membrane spanning protein tyrosine kinase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	29						GGCGGACGGGCTCATCTACTG	0.682													G	98349621	C	G	98349621	3	3	765	1	0	0	0	0	1	0	0	0	17616	797	28	4	750	4	ZAP70	2	98349621	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12795114	98349621	144849752	16	57128											
PLA2R1	22925	broad.mit.edu	37	chr2	160862319	160862319	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgatcaaactggtaataaAagcctgttcaaaccttaaaa	18	10	5	8	0	2	1	2	1	0	0	2	1	2	1	2	1	3	2	2	1	7	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:160862319A>T	ENST00000283243.7	-	11	1884	c.1678T>A	c.(1678-1680)Ttt>Att	p.F560I	PLA2R1_ENST00000392771.1_Missense_Mutation_p.F560I	NM_001195641.1|NM_007366.4	NP_001182570.1|NP_031392.3	Q13018	PLA2R_HUMAN	phospholipase A2 receptor 1, 180kDa	560	C-type lectin 3.				endocytosis	extracellular space|integral to plasma membrane	receptor activity|sugar binding		PLA2R1/RBMS1(2)	central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(17)|lung(20)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)	60						CTGGTAATAAAAGCCTGTTCA	0.363													T	160862319	A	T	160862319	3	4	765	1	0	0	0	0	1	0	0	0	12087	14	1	5	2801	5	PLA2R1	2	160862319	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	62512698	160862319	82337054	17	57129											
TTN	7273	broad.mit.edu	37	chr2	179536914	179536914	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcttccacttctgcttctaCtacttctaattctagtcttt	6	21	2	12	0	6	0	0	0	6	0	7	0	7	0	1	0	3	1	1	0	4	11			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr2:179536914C>A	ENST00000589042.1	-	155	35235	c.35011G>T	c.(35011-35013)Gta>Tta	p.V11671L	TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.V11297L|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V10370L|TTN-AS1_ENST00000589487.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	11537	Glu-rich.|Pro-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			tctgcttctactacttctaat	0.363													A	179536914	C	A	179536914	3	1	765	1	0	0	0	0	1	0	0	0	16837	565	20	4	69529	4	TTN	2	179536914	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	18674595	179536914	63662459	18	57130											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	765	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	29576198	209113112	34086261	19	57131											
LTF	4057	broad.mit.edu	37	chr3	46490455	46490455	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	acacttgcgcagctcctgctCgcccaccgcacaccacacga	9	5	7	20	4	0	0	0	0	0	0	2	1	1	0	4	0	3	4	4	0	0	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:46490455C>T	ENST00000231751.4	-	9	1406	c.1111G>A	c.(1111-1113)Gag>Aag	p.E371K	LTF_ENST00000417439.1_Missense_Mutation_p.E371K|LTF_ENST00000426532.2_Missense_Mutation_p.E327K	NM_002343.3	NP_002334.2	P02788	TRFL_HUMAN	lactotransferrin	371	Transferrin-like 2.				cellular iron ion homeostasis|defense response to bacterium|humoral immune response|iron ion transport	extracellular region|stored secretory granule	ferric iron binding|heparin binding|protein binding|serine-type endopeptidase activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	40				all cancers(1;7.55e-14)|GBM - Glioblastoma multiforme(1;2.1e-09)|Epithelial(1;9.25e-07)|Colorectal(1;3.81e-05)|BRCA - Breast invasive adenocarcinoma(193;0.00129)|COAD - Colon adenocarcinoma(1;0.00308)|KIRC - Kidney renal clear cell carcinoma(197;0.0205)|Kidney(197;0.0242)|OV - Ovarian serous cystadenocarcinoma(275;0.089)	Pefloxacin(DB00487)	AGCTCCTGCTCGCCCACCGCA	0.662													T	46490455	C	T	46490455	3	4	765	1	0	0	0	0	1	0	0	0	9149	893	31	1	1057	1	LTF	3	46490455	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		46490455	151531975	20	57132											
MAP4	4134	broad.mit.edu	37	chr3	47908750	47908750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	acttacattaccacctccagGgacatgcttaatattgtcct	11	13	5	12	0	0	0	0	0	0	0	2	1	2	1	4	1	3	1	4	1	4	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:47908750G>A	ENST00000426837.2	-	17	6574	c.6487C>T	c.(6487-6489)Cct>Tct	p.P2163S	MAP4_ENST00000360240.6_Missense_Mutation_p.P1018S|MAP4_ENST00000420772.2_Missense_Mutation_p.P711S|MAP4_ENST00000441748.2_Missense_Mutation_p.P132S|MAP4_ENST00000264724.11_Missense_Mutation_p.P753S|MAP4_ENST00000395734.3_Missense_Mutation_p.P1018S|MAP4_ENST00000383737.4_Intron			P27816	MAP4_HUMAN	microtubule-associated protein 4	1018					negative regulation of microtubule depolymerization	cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(2)	32				BRCA - Breast invasive adenocarcinoma(193;0.000721)|KIRC - Kidney renal clear cell carcinoma(197;0.00641)|Kidney(197;0.00736)		CCACCTCCAGGGACATGCTTA	0.448													A	47908750	G	A	47908750	3	1	765	1	0	0	0	0	1	0	0	0	9333	1232	43	2	577	2	MAP4	3	47908750	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	1418295	47908750	150113680	21	57133											
DZIP3	9666	broad.mit.edu	37	chr3	108351853	108351853	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcaatataatgaagcagacGatttgtagttacctagattg	15	12	9	5	1	0	3	0	1	0	2	0	4	0	3	1	0	3	4	1	0	7	7			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:108351853G>A	ENST00000361582.3	+	9	980	c.750G>A	c.(748-750)acG>acA	p.T250T	DZIP3_ENST00000463306.1_Silent_p.T250T	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	250					protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						TGAAGCAGACGATTTGTAGTT	0.274													A	108351853	G	A	108351853	2	1	765	1	0	0	0	0	0	0	0	1	4904	1045	37	1		1	DZIP3	3	108351853	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	60443103	108351853	89670577	22	57134											
ETV5	2119	broad.mit.edu	37	chr3	185798911	185798911	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaagacgacagctcagaggAggggctgtgcagctcccgtt	10	6	14	11	2	1	2	1	0	0	2	2	4	2	3	1	3	3	5	1	3	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr3:185798911A>G	ENST00000306376.5	-	6	532	c.286T>C	c.(286-288)Tcc>Ccc	p.S96P	ETV5_ENST00000434744.1_Missense_Mutation_p.S96P|ETV5_ENST00000537818.1_Missense_Mutation_p.S138P	NM_004454.2	NP_004445.1	P41161	ETV5_HUMAN	ets variant 5	96					cellular response to oxidative stress	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			breast(2)|cervix(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	28	all_cancers(143;4.06e-12)|Ovarian(172;0.0386)|Breast(254;0.247)		OV - Ovarian serous cystadenocarcinoma(80;1.62e-24)			AGCTCAGAGGAGGGGCTGTGC	0.522			T	"TMPRSS2, SCL45A3"	Prostate								G	185798911	A	G	185798911	3	3	765	1	0	0	0	0	1	0	0	0	5323	304	11	3	1278	3	ETV5	3	185798911	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	77447058	185798911	12223519	23	57135											
ARAP2	116984	broad.mit.edu	37	chr4	36179548	36179548	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatccacatttctcaggtgtAacaacagcttgagactgcga	12	11	8	10	1	1	1	1	1	1	1	3	3	2	1	1	1	4	2	1	1	3	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:36179548A>G	ENST00000303965.4	-	9	2247	c.1758T>C	c.(1756-1758)gtT>gtC	p.V586V		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	586					regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytosol	ARF GTPase activator activity|phosphatidylinositol-3,4,5-trisphosphate binding|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TCTCAGGTGTAACAACAGCTT	0.393													G	36179548	A	G	36179548	2	3	765	1	0	0	0	0	0	0	0	1	842	349	13	3		3	ARAP2	4	36179548	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08		36179548	154974728	24	57136											
GABRB1	2560	broad.mit.edu	37	chr4	47033952	47033952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaatgaacccagcaacatGtcatacgtgaaagagacagt	17	6	8	10	1	1	3	1	2	0	1	1	4	1	3	2	0	4	1	2	0	5	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:47033952G>A	ENST00000295454.3	+	2	394	c.102G>A	c.(100-102)atG>atA	p.M34I	GABRB1_ENST00000538619.1_5'UTR|GABRB1_ENST00000509366.1_3'UTR	NM_000812.3	NP_000803.2	P18505	GBRB1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 1	34					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44					Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)	CCAGCAACATGTCATACGTGA	0.453													A	47033952	G	A	47033952	3	1	765	1	0	0	0	0	1	0	0	0	6218	1377	48	2	108	2	GABRB1	4	47033952	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10854404	47033952	144120324	25	57137											
CXCL6	6372	broad.mit.edu	37	chr4	74702739	74702739	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttgtttacgcgttacgctGagagtaaaccccaaaacgat	13	10	8	10	4	0	1	0	1	0	1	0	3	0	1	2	0	4	4	2	0	6	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr4:74702739G>A	ENST00000226317.5	+	2	422	c.168G>A	c.(166-168)ctG>ctA	p.L56L	CXCL6_ENST00000515050.1_Silent_p.L56L	NM_002993.3	NP_002984.1	P80162	CXCL6_HUMAN	chemokine (C-X-C motif) ligand 6	56					cell-cell signaling|chemotaxis|immune response|inflammatory response|signal transduction	extracellular space	chemokine activity|heparin binding			large_intestine(1)|lung(7)	8	Breast(15;0.00102)		all cancers(17;0.00176)|Lung(101;0.128)|LUSC - Lung squamous cell carcinoma(112;0.187)			GCGTTACGCTGAGAGTAAACC	0.532													A	74702739	G	A	74702739	2	1	765	1	0	0	0	0	0	0	0	1	4121	1277	45	2		2	CXCL6	4	74702739	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	27668787	74702739	116451537	26	57138											
LIFR	3977	broad.mit.edu	37	chr5	38506633	38506633	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taaagtgtagcttgtagcacGtgggcccaccaacgctgtca	10	9	11	11	2	1	0	1	0	0	0	1	0	1	0	2	1	3	5	2	1	5	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:38506633G>A	ENST00000263409.4	-	8	1255	c.1093C>T	c.(1093-1095)Cgt>Tgt	p.R365C	LIFR_ENST00000503088.1_5'UTR|LIFR_ENST00000453190.2_Missense_Mutation_p.R365C	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	365	Fibronectin type-III 2.				positive regulation of cell proliferation	extracellular region|integral to plasma membrane	ciliary neurotrophic factor receptor binding|growth factor binding|leukemia inhibitory factor receptor activity			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CTTGTAGCACGTGGGCCCACC	0.418			T	PLAG1	salivary adenoma								A	38506633	G	A	38506633	3	1	765	1	0	0	0	0	1	0	0	0	8840	1145	40	1	2252	1	LIFR	5	38506633	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		38506633	142408627	27	57139											
PTCD2	79810	broad.mit.edu	37	chr5	71616216	71616216	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccagtagttggtatggtcCgagacagtatggctgctgca	8	12	13	8	1	0	1	0	0	0	1	2	2	2	1	2	3	2	7	2	3	3	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:71616216C>T	ENST00000380639.5	+	1	23	c.7C>T	c.(7-9)Cga>Tga	p.R3*	PTCD2_ENST00000543322.1_Nonsense_Mutation_p.R3*|PTCD2_ENST00000503868.1_Nonsense_Mutation_p.R3*	NM_024754.3	NP_079030.3	Q8WV60	PTCD2_HUMAN	pentatricopeptide repeat domain 2	3										breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(1)|skin(1)	11		Lung NSC(167;0.00237)|Ovarian(174;0.0175)|Prostate(461;0.141)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.73e-53)		TGGTATGGTCCGAGACAGTAT	0.612													T	71616216	C	T	71616216	4	4	765	1	0	0	0	0	0	1	0	0	12813	644	23	1	9	1	PTCD2	5	71616216	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	33109583	71616216	109299044	28	57140											
SLCO4C1	353189	broad.mit.edu	37	chr5	101575025	101575025	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctttaattccacaatcAtttatatcccaaagaataca	15	13	2	11	0	1	1	1	0	0	1	4	1	4	1	3	0	1	1	3	0	7	7			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr5:101575025A>G	ENST00000310954.6	-	12	2230	c.1944T>C	c.(1942-1944)aaT>aaC	p.N648N		NM_180991.4	NP_851322.3	Q6ZQN7	SO4C1_HUMAN	solute carrier organic anion transporter family, member 4C1	648					cell differentiation|multicellular organismal development|sodium-independent organic anion transport|spermatogenesis	basolateral plasma membrane|integral to membrane	sodium-independent organic anion transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(5)	50		all_cancers(142;1.86e-08)|all_epithelial(76;5.24e-12)|Prostate(80;0.00124)|Colorectal(57;0.00332)|Ovarian(225;0.024)|Lung NSC(167;0.0402)|all_lung(232;0.0486)		Epithelial(69;4.07e-14)|COAD - Colon adenocarcinoma(37;0.00986)		TTCCACAATCATTTATATCCC	0.343													G	101575025	A	G	101575025	2	3	765	1	0	0	0	0	0	0	0	1	14824	214	8	3		3	SLCO4C1	5	101575025	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	29958809	101575025	79340235	29	57141											
FAM50B	26240	broad.mit.edu	37	chr6	3850197	3850197	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtggacaagaggttctcggCgcattacgacgccgtggagg	8	7	17	9	5	1	1	0	0	1	1	2	4	1	3	1	6	1	2	1	6	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:3850197C>T	ENST00000380274.1	+	1	578	c.152C>T	c.(151-153)gCg>gTg	p.A51V	FAM50B_ENST00000380272.3_Missense_Mutation_p.A51V			Q9Y247	FA50B_HUMAN	family with sequence similarity 50, member B	51						nucleus				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(2)|pancreas(1)|prostate(3)|urinary_tract(3)	17	Ovarian(93;0.0925)	all_hematologic(90;0.108)				AGGTTCTCGGCGCATTACGAC	0.647													T	3850197	C	T	3850197	3	4	765	1	0	0	0	0	1	0	0	0	5629	768	27	1	154	1	FAM50B	6	3850197	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		3850197	167264870	30	57142											
GJA1	2697	broad.mit.edu	37	chr6	121769018	121769018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatttccccgatgataaccAgaattctaaaaaactagctg	15	11	6	9	1	1	3	0	2	1	1	2	4	2	3	3	0	3	1	3	0	6	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:121769018A>G	ENST00000282561.3	+	2	1182	c.1025A>G	c.(1024-1026)cAg>cGg	p.Q342R		NM_000165.3	NP_000156.1	P17302	CXA1_HUMAN	gap junction protein, alpha 1, 43kDa	342					cell-cell signaling|cellular membrane organization|gap junction assembly|heart development|muscle contraction|positive regulation of I-kappaB kinase/NF-kappaB cascade	connexon complex|Golgi-associated vesicle membrane|integral to plasma membrane|membrane raft	ion transmembrane transporter activity|signal transducer activity			autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(2)|large_intestine(10)|liver(2)|lung(13)|ovary(2)	33				GBM - Glioblastoma multiforme(226;0.00252)	Carvedilol(DB01136)	GATGATAACCAGAATTCTAAA	0.498													G	121769018	A	G	121769018	3	3	765	1	0	0	0	0	1	0	0	0	6456	188	7	3	1027	3	GJA1	6	121769018	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	117918821	121769018	49346049	31	57143											
ULBP3	79465	broad.mit.edu	37	chr6	150387113	150387113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacctctctcagcatttccaGttgttttccccaggcatctg	6	14	6	15	0	3	0	1	0	2	0	6	0	5	0	4	1	1	4	4	1	0	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr6:150387113G>T	ENST00000367339.2	-	2	302	c.274C>A	c.(274-276)Ctg>Atg	p.L92M	ULBP3_ENST00000438272.2_Missense_Mutation_p.L92M			Q9BZM4	N2DL3_HUMAN	UL16 binding protein 3		MHC class I alpha-1 like.				antigen processing and presentation|immune response|natural killer cell activation	anchored to membrane|MHC class I protein complex	MHC class I receptor activity			central_nervous_system(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(1)	9		Ovarian(120;0.12)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.45e-12)		AGCATTTCCAGTTGTTTTCCC	0.507													T	150387113	G	T	150387113	3	4	765	1	0	0	0	0	1	0	0	0	17076	1020	36	4	471	4	ULBP3	6	150387113	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	28618095	150387113	20727954	32	57144											
TAX1BP1	8887	broad.mit.edu	37	chr7	27856589	27856589	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttggggactggaagacaatGttgtctgcagccagcctgct	8	10	13	10	0	1	1	0	0	1	1	1	3	1	3	2	3	4	3	2	3	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:27856589G>A	ENST00000396319.2	+	15	2105	c.2017G>A	c.(2017-2019)Gtt>Att	p.V673I	TAX1BP1_ENST00000265393.6_Missense_Mutation_p.V631I|TAX1BP1_ENST00000409980.1_Missense_Mutation_p.V697I|TAX1BP1_ENST00000543117.1_Missense_Mutation_p.V631I|TAX1BP1_ENST00000433216.2_Missense_Mutation_p.V474I	NM_006024.6	NP_006015.4	Q86VP1	TAXB1_HUMAN	Tax1 (human T-cell leukemia virus type I) binding protein 1	673					anti-apoptosis|apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production	cytosol	identical protein binding|kinase binding|zinc ion binding			breast(1)|endometrium(5)|kidney(3)|large_intestine(10)|lung(8)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	31			GBM - Glioblastoma multiforme(3;0.0823)			GGAAGACAATGTTGTCTGCAG	0.453													A	27856589	G	A	27856589	3	1	765	1	0	0	0	0	1	0	0	0	15691	1377	48	2	2071	2	TAX1BP1	7	27856589	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		27856589	131282074	33	57145											
TYW1B	441250	broad.mit.edu	37	chr7	72040546	72040546	+	RNA	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttgtgtccttgggatcaaaGcttctttcattggcaccaaa	9	14	8	10	0	3	0	2	0	1	0	4	1	4	1	2	2	1	2	2	2	2	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:72040546G>C	ENST00000343721.5	-	0	1127				TYW1B_ENST00000435769.2_RNA|TYW1B_ENST00000438125.1_RNA			Q6NUM6	TYW1B_HUMAN	tRNA-yW synthesizing protein 1 homolog B (S. cerevisiae)						tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity										TGGGATCAAAGCTTCTTTCAT	0.398													C	72040546	G	C	72040546	1	2	765	0	1	0	0	0	0	0	0	0	16921	962	34	4		4	TYW1B	7	72040546	RNA	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	44183957	72040546	87098117	34	57146											
MUC17	140453	broad.mit.edu	37	chr7	100679419	100679419	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatagtgaaggaagcactccActaacaagtttgcctgtcag	13	10	9	9	0	1	1	1	1	0	0	2	2	2	2	2	1	3	2	2	1	6	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:100679419A>G	ENST00000306151.4	+	3	4786	c.4722A>G	c.(4720-4722)ccA>ccG	p.P1574P		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1574	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)					GAAGCACTCCACTAACAAGTT	0.488													G	100679419	A	G	100679419	2	3	765	1	0	0	0	0	0	0	0	1	10050	146	6	3		3	MUC17	7	100679419	Silent	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	28638873	100679419	58459244	35	57147											
FLNC	2318	broad.mit.edu	37	chr7	128481609	128481609	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggcaagggagacctgaaGctctatgcccaggtaggtca	10	7	14	10	0	2	2	1	1	1	1	2	3	2	2	2	4	2	4	2	4	4	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr7:128481609G>A	ENST00000325888.8	+	13	2370	c.2109G>A	c.(2107-2109)aaG>aaA	p.K703K	FLNC_ENST00000346177.6_Silent_p.K703K	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	703					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GAGACCTGAAGCTCTATGCCC	0.622													A	128481609	G	A	128481609	2	1	765	1	0	0	0	0	0	0	0	1	5984	962	34	2		2	FLNC	7	128481609	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	27802190	128481609	30657054	36	57148											
HOOK3	84376	broad.mit.edu	37	chr8	42829299	42829299	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaaaccattgaagagcttcGttgtgtacaagctcaagaag	14	9	11	7	1	1	3	1	1	0	2	2	4	1	4	1	1	4	4	1	1	6	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:42829299G>T	ENST00000307602.4	+	13	1483	c.1283G>T	c.(1282-1284)cGt>cTt	p.R428L		NM_032410.3	NP_115786.1	Q86VS8	HOOK3_HUMAN	hook microtubule-tethering protein 3	428					cytoplasmic microtubule organization|early endosome to late endosome transport|endosome organization|endosome to lysosome transport|Golgi localization|interkinetic nuclear migration|lysosome organization|microtubule anchoring|negative regulation of neurogenesis|protein localization to centrosome|protein transport	cis-Golgi network|FHF complex|microtubule|pericentriolar material	identical protein binding|microtubule binding			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	31	Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.000105)|Lung NSC(58;0.000419)|Hepatocellular(245;0.0524)|Renal(179;0.0822)|Esophageal squamous(32;0.129)	Lung(22;0.048)|LUSC - Lung squamous cell carcinoma(45;0.114)			GAAGAGCTTCGTTGTGTACAA	0.408			T	RET	papillary thyroid								T	42829299	G	T	42829299	3	4	765	1	0	0	0	0	1	0	0	0	7339	1145	40	4	1333	4	HOOK3	8	42829299	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		42829299	103534723	37	57149											
CHCHD7	79145	broad.mit.edu	37	chr8	57129008	57129008	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	taaggaatctgatgcttccaCcagatgtctggatgaaaata	14	11	9	7	0	2	3	0	2	2	1	3	5	3	5	2	2	1	1	2	2	5	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:57129008C>A	ENST00000523975.1	+	4	255	c.107C>A	c.(106-108)aCc>aAc	p.T36N	CHCHD7_ENST00000521831.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000303759.3_Missense_Mutation_p.T49N|CHCHD7_ENST00000519367.1_Missense_Mutation_p.P39T|CHCHD7_ENST00000518801.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000521524.1_Missense_Mutation_p.P51T|CHCHD7_ENST00000396723.5_Missense_Mutation_p.T33N|CHCHD7_ENST00000523061.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000517933.1_Missense_Mutation_p.T24N|CHCHD7_ENST00000355315.3_Missense_Mutation_p.T24N			Q9BUK0	CHCH7_HUMAN	coiled-coil-helix-coiled-coil-helix domain containing 7	24	CHCH.								CHCHD7/PLAG1(12)	endometrium(1)	1		all_lung(136;0.0548)|Lung NSC(129;0.0718)|all_epithelial(80;0.125)	Epithelial(17;0.00159)|all cancers(17;0.0112)			GATGCTTCCACCAGATGTCTG	0.398			T	PLAG1	salivary adenoma								A	57129008	C	A	57129008	3	1	765	1	0	0	0	0	1	0	0	0	3351	507	18	4	200	4	CHCHD7	8	57129008	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14299709	57129008	89235014	38	57150											
CA2	760	broad.mit.edu	37	chr8	86386583	86386583	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcactggaacaccaaatatGgggattttgggaaagctgtg	12	11	12	6	0	1	0	1	0	0	0	1	3	1	3	1	4	2	1	1	4	4	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:86386583G>C	ENST00000285379.5	+	4	612	c.382G>C	c.(382-384)Ggg>Cgg	p.G128R		NM_000067.2	NP_000058.1	P00918	CAH2_HUMAN	carbonic anhydrase II	128					one-carbon metabolic process	apical part of cell	carbonate dehydratase activity|zinc ion binding			central_nervous_system(2)|cervix(1)|large_intestine(2)|lung(5)|prostate(1)	11					Acetazolamide(DB00819)|Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Brinzolamide(DB01194)|Chlorothiazide(DB00880)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Dorzolamide(DB00869)|Ethinamate(DB01031)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Topiramate(DB00273)|Trichlormethiazide(DB01021)	CACCAAATATGGGGATTTTGG	0.398													C	86386583	G	C	86386583	3	2	765	1	0	0	0	0	1	0	0	0	2542	1348	47	4	396	4	CA2	8	86386583	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	29257575	86386583	59977439	39	57151											
RBM12B	389677	broad.mit.edu	37	chr8	94748635	94748635	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cagtaaacggatgactacagCcatgctgagctcaaaccaca	15	6	8	12	1	1	2	1	2	0	0	1	3	1	3	2	1	6	3	2	1	4	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:94748635C>A	ENST00000399300.2	-	3	217	c.4G>T	c.(4-6)Gct>Tct	p.A2S	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.A2S	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	2							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ATGACTACAGCCATGCTGAGC	0.433													A	94748635	C	A	94748635	3	1	765	1	0	0	0	0	1	0	0	0	13202	739	26	4	3005	4	RBM12B	8	94748635	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	8362052	94748635	51615387	40	57152											
RRM2B	50484	broad.mit.edu	37	chr8	103226348	103226348	+	Nonsense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgaaggcttatttactaaGtattggaacatcaggcaagc	13	12	9	7	0	2	1	1	1	1	0	2	2	2	2	0	3	3	3	0	3	7	6			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:103226348G>C	ENST00000251810.3	-	7	966	c.723C>G	c.(721-723)taC>taG	p.Y241*	RRM2B_ENST00000395912.2_Nonsense_Mutation_p.Y189*|RRM2B_ENST00000519962.1_Intron|RRM2B_ENST00000519317.1_Nonsense_Mutation_p.Y29*	NM_001172478.1|NM_015713.4	NP_001165949.1|NP_056528.2	Q7LG56	RIR2B_HUMAN	ribonucleotide reductase M2 B (TP53 inducible)	241					deoxyribonucleoside diphosphate metabolic process|DNA repair|nucleobase, nucleoside and nucleotide interconversion	nucleoplasm	ribonucleoside-diphosphate reductase activity|transition metal ion binding			breast(1)|endometrium(1)|large_intestine(1)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	9	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;0.000728)			TATTTACTAAGTATTGGAACA	0.378								Modulation of nucleotide pools					C	103226348	G	C	103226348	4	2	765	1	0	0	0	0	0	1	0	0	13774	1024	36	4	344	4	RRM2B	8	103226348	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	8477713	103226348	43137674	41	57153											
CSMD3	114788	broad.mit.edu	37	chr8	113349859	113349859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccaattaatgtgtatcctgGgaaacattcaaatgaaatgg	15	12	8	6	0	1	1	1	1	0	0	3	2	3	2	2	2	1	1	2	2	6	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:113349859G>A	ENST00000297405.5	-	43	6998	c.6754C>T	c.(6754-6756)Cca>Tca	p.P2252S	CSMD3_ENST00000343508.3_Missense_Mutation_p.P2212S|CSMD3_ENST00000352409.3_Missense_Mutation_p.P2182S|CSMD3_ENST00000455883.2_Missense_Mutation_p.P2148S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2252	Sushi 12.					integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						GTGTATCCTGGGAAACATTCA	0.413										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			A	113349859	G	A	113349859	3	1	765	1	0	0	0	0	1	0	0	0	3979	1232	43	2	4485	2	CSMD3	8	113349859	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10123511	113349859	33014163	42	57154											
DENND3	22898	broad.mit.edu	37	chr8	142161887	142161887	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatttcgtcatggcccccaCgtccttcctgatgggctgcc	4	11	11	15	2	1	1	1	1	0	0	4	2	3	2	5	3	1	1	5	3	0	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr8:142161887C>T	ENST00000519811.1	+	7	1095	c.1025C>T	c.(1024-1026)aCg>aTg	p.T342M	DENND3_ENST00000262585.2_Missense_Mutation_p.T262M|DENND3_ENST00000424248.1_Missense_Mutation_p.T262M			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	262										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			ATGGCCCCCACGTCCTTCCTG	0.547													T	142161887	C	T	142161887	3	4	765	1	0	0	0	0	1	0	0	0	4471	536	19	1	807	1	DENND3	8	142161887	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	28812028	142161887	4202135	43	57155											
ACO1	48	broad.mit.edu	37	chr9	32420980	32420980	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agtacggagcaactgctgccTttttcccagttgatgaagtt	9	13	10	9	1	0	2	0	2	0	0	1	3	1	3	2	1	5	5	2	1	3	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:32420980T>C	ENST00000309951.6	+	8	1063	c.925T>C	c.(925-927)Ttt>Ctt	p.F309L	ACO1_ENST00000379923.1_Missense_Mutation_p.F309L|ACO1_ENST00000541043.1_Missense_Mutation_p.F210L	NM_002197.2	NP_002188.1	P21399	ACOC_HUMAN	aconitase 1, soluble						citrate metabolic process|response to iron(II) ion|tricarboxylic acid cycle	cytosol|endoplasmic reticulum|Golgi apparatus	4 iron, 4 sulfur cluster binding|aconitate hydratase activity|citrate hydro-lyase (cis-aconitate-forming) activity|iron-responsive element binding|isocitrate hydro-lyase (cis-aconitate-forming) activity|metal ion binding|protein binding			breast(1)|endometrium(7)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	30			LUSC - Lung squamous cell carcinoma(29;0.00813)	GBM - Glioblastoma multiforme(74;3.94e-06)		AACTGCTGCCTTTTTCCCAGT	0.483													C	32420980	T	C	32420980	3	2	765	1	0	0	0	0	1	0	0	0	146	1609	56	3	951	3	ACO1	9	32420980	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		32420980	108792451	44	57156											
PIP5K1B	8395	broad.mit.edu	37	chr9	71606159	71606159	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggatgacaatgcttctgtgCttgacgtctatttagtaagt	10	15	10	6	1	2	2	0	2	2	0	2	3	2	3	0	1	2	3	0	1	4	6			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:71606159C>T	ENST00000265382.3	+	15	1911	c.1606C>T	c.(1606-1608)Ctt>Ttt	p.L536F	PIP5K1B_ENST00000541509.1_Intron	NM_003558.2	NP_003549.1	O14986	PI51B_HUMAN	phosphatidylinositol-4-phosphate 5-kinase, type I, beta	0						endomembrane system|membrane|uropod	1-phosphatidylinositol-4-phosphate 5-kinase activity|ATP binding|protein binding			breast(1)|large_intestine(2)|stomach(1)	4				Lung(182;0.133)		TGCTTCTGTGCTTGACGTCTA	0.433													T	71606159	C	T	71606159	3	4	765	1	0	0	0	0	1	0	0	0	12017	797	28	2	1652	2	PIP5K1B	9	71606159	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	39185179	71606159	69607272	45	57157											
KLF9	687	broad.mit.edu	37	chr9	73002695	73002695	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttccacgggcagcacctcaCaaagcgttggccagcgcctt	8	7	10	16	3	1	0	1	0	0	0	2	0	2	0	4	2	3	3	4	2	1	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:73002695C>G	ENST00000377126.2	-	2	1992	c.732G>C	c.(730-732)ttG>ttC	p.L244F		NM_001206.2	NP_001197.1	Q13886	KLF9_HUMAN	Kruppel-like factor 9	244					regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(3)|lung(1)|prostate(2)|urinary_tract(1)	9						CAGCACCTCACAAAGCGTTGG	0.587													G	73002695	C	G	73002695	3	3	765	1	0	0	0	0	1	0	0	0	8411	477	17	4	6	4	KLF9	9	73002695	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	1396536	73002695	68210736	46	57158											
RMI1	80010	broad.mit.edu	37	chr9	86617400	86617400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttgtctgttctaatggccaGcaaaccaaaggaagttacaa	14	11	8	8	0	2	0	0	0	2	0	2	1	2	1	2	2	3	3	2	2	6	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:86617400G>A	ENST00000325875.3	+	3	1831	c.1499G>A	c.(1498-1500)aGc>aAc	p.S500N		NM_024945.2	NP_079221.2	Q9H9A7	RMI1_HUMAN	RecQ mediated genome instability 1	500					DNA replication	nucleus				biliary_tract(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						CTAATGGCCAGCAAACCAAAG	0.363													A	86617400	G	A	86617400	3	1	765	1	0	0	0	0	1	0	0	0	13486	971	34	2	1501	2	RMI1	9	86617400	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	13614705	86617400	54596031	47	57159											
OR1N1	138883	broad.mit.edu	37	chr9	125289088	125289088	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcacacagaaggacaaccgaGccatgaggaacgtgtgagtc	14	5	12	10	2	1	3	1	2	0	1	2	6	1	5	2	2	3	0	2	2	3	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr9:125289088G>A	ENST00000304880.2	-	1	484	c.485C>T	c.(484-486)gCt>gTt	p.A162V		NM_012363.1	NP_036495.1	Q8NGS0	OR1N1_HUMAN	olfactory receptor, family 1, subfamily N, member 1	162					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|central_nervous_system(1)|large_intestine(2)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						GGACAACCGAGCCATGAGGAA	0.512													A	125289088	G	A	125289088	3	1	765	1	0	0	0	0	1	0	0	0	11045	971	34	2	454	2	OR1N1	9	125289088	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	38671688	125289088	15924343	48	57160											
OR51I1	390063	broad.mit.edu	37	chr11	5462403	5462403	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcatggccagcagtatgccTgactccatgaaggagaaagt	12	8	11	10	0	1	3	1	2	0	1	2	4	2	3	3	2	2	2	3	2	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:5462403T>A	ENST00000380211.1	-	1	341	c.342A>T	c.(340-342)tcA>tcT	p.S114S	AC104389.28_ENST00000415970.1_RNA|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron	NM_001005288.2	NP_001005288.1	Q9H343	O51I1_HUMAN	olfactory receptor, family 51, subfamily I, member 1	114					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.92e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GCAGTATGCCTGACTCCATGA	0.458													A	5462403	T	A	5462403	2	1	765	1	0	0	0	0	0	0	0	1	11176	1567	55	5		5	OR51I1	11	5462403	Silent	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		5462403	129544113	49	57161											
SMPD1	6609	broad.mit.edu	37	chr11	6412705	6412705	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgccgtgtgccaatccattgTccacctctttgaggatgaca	8	12	9	12	1	1	2	0	2	1	0	3	3	3	3	5	1	2	0	5	1	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:6412705T>C	ENST00000342245.4	+	2	578	c.410T>C	c.(409-411)gTc>gCc	p.V137A	SMPD1_ENST00000356761.2_Missense_Mutation_p.V137A|SMPD1_ENST00000299397.3_Missense_Mutation_p.V137A|SMPD1_ENST00000533196.1_Intron|SMPD1_ENST00000527275.1_Missense_Mutation_p.V136A	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	135	Saposin B-type.		L -> P (in NPDB).		cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Desipramine(DB01151)	CAATCCATTGTCCACCTCTTT	0.602													C	6412705	T	C	6412705	3	2	765	1	0	0	0	0	1	0	0	0	14898	1667	58	3	416	3	SMPD1	11	6412705	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	950302	6412705	128593811	50	57162											
MRGPRX2	117194	broad.mit.edu	37	chr11	19076984	19076984	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agactgcttctcgacatctcCggggtgccctgacggaagca	8	8	12	13	3	2	2	0	1	2	1	4	4	2	3	2	3	3	2	2	3	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:19076984C>T	ENST00000329773.2	-	2	1053	c.966G>A	c.(964-966)ccG>ccA	p.P322P		NM_054030.2	NP_473371.1	Q96LB1	MRGX2_HUMAN	MAS-related GPR, member X2	322					sensory perception of pain|sleep	plasma membrane	G-protein coupled receptor activity|neuropeptide binding			NS(1)|large_intestine(2)|liver(1)|lung(5)|ovary(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	15						TCGACATCTCCGGGGTGCCCT	0.557													T	19076984	C	T	19076984	2	4	765	1	0	0	0	0	0	0	0	1	9843	639	23	1		1	MRGPRX2	11	19076984	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12664279	19076984	115929532	51	57163											
AHNAK	79026	broad.mit.edu	37	chr11	62297887	62297887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acatctcccttcaattttggCcccttaagattcaggtccac	9	13	5	14	0	3	1	2	0	1	1	5	1	4	1	4	2	0	0	4	2	2	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:62297887C>T	ENST00000378024.4	-	5	4276	c.4002G>A	c.(4000-4002)ggG>ggA	p.G1334G	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	1334					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				TCAATTTTGGCCCCTTAAGAT	0.493													T	62297887	C	T	62297887	2	4	765	1	0	0	0	0	0	0	0	1	414	726	26	2		2	AHNAK	11	62297887	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	43220903	62297887	72708629	52	57164											
PLCB3	5331	broad.mit.edu	37	chr11	64030204	64030204	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctccctgttgatacgcggcGcaagtaccgcacccggacct	7	7	10	17	5	0	1	0	1	0	0	1	2	1	2	5	2	2	4	5	2	3	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:64030204G>A	ENST00000540288.1	+	19	2382	c.2279G>A	c.(2278-2280)cGc>cAc	p.R760H	PLCB3_ENST00000279230.6_Missense_Mutation_p.R760H|PLCB3_ENST00000325234.5_Missense_Mutation_p.R693H	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	760	C2.				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GATACGCGGCGCAAGTACCGC	0.637													A	64030204	G	A	64030204	3	1	765	1	0	0	0	0	1	0	0	0	12106	1087	38	1	2353	1	PLCB3	11	64030204	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	1732317	64030204	70976312	53	57165											
PDE2A	5138	broad.mit.edu	37	chr11	72300242	72300242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaggtccttcagctggaTggacttcttgtcttccacca	6	13	11	11	0	3	1	1	1	2	0	5	3	5	3	3	4	1	1	3	4	0	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:72300242T>C	ENST00000334456.5	-	12	1161	c.916A>G	c.(916-918)Atc>Gtc	p.I306V	PDE2A_ENST00000418754.2_Missense_Mutation_p.I191V|PDE2A_ENST00000444035.2_Missense_Mutation_p.I297V|PDE2A_ENST00000376450.3_Intron|PDE2A_ENST00000540345.1_Missense_Mutation_p.I297V|PDE2A_ENST00000544570.1_Missense_Mutation_p.I299V	NM_002599.4	NP_002590.1	O00408	PDE2A_HUMAN	phosphodiesterase 2A, cGMP-stimulated	306	GAF 1.				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cGMP binding|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity|metal ion binding			breast(2)|endometrium(1)|kidney(3)|large_intestine(2)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	36			BRCA - Breast invasive adenocarcinoma(5;3.55e-05)		Sildenafil(DB00203)|Sulindac(DB00605)	TTCAGCTGGATGGACTTCTTG	0.602													C	72300242	T	C	72300242	3	2	765	1	0	0	0	0	1	0	0	0	11712	1464	51	3	1989	3	PDE2A	11	72300242	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	8270038	72300242	62706274	54	57166											
ZW10	9183	broad.mit.edu	37	chr11	113607355	113607355	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tacataccgatccccaatttCttgcaagctggcttgtagca	10	12	7	12	1	1	0	0	0	1	0	2	1	2	0	3	1	5	5	3	1	5	6			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:113607355C>T	ENST00000200135.3	-	15	2350	c.2206G>A	c.(2206-2208)Gaa>Aaa	p.E736K		NM_004724.3	NP_004715.1	O43264	ZW10_HUMAN	zw10 kinetochore protein	736					cell division|ER to Golgi vesicle-mediated transport|establishment of mitotic spindle orientation|meiosis|mitotic cell cycle checkpoint|mitotic metaphase plate congression|mitotic prometaphase|protein complex assembly|protein localization to kinetochore|protein transport|regulation of exit from mitosis	condensed chromosome kinetochore|cytosol|endoplasmic reticulum membrane|kinetochore microtubule|nucleus|spindle pole	centromeric DNA binding|protein binding			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)	18		all_cancers(61;3.84e-16)|all_epithelial(67;1e-09)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000237)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0421)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.94e-06)|Epithelial(105;0.000103)|all cancers(92;0.000786)		TCCCCAATTTCTTGCAAGCTG	0.413													T	113607355	C	T	113607355	3	4	765	1	0	0	0	0	1	0	0	0	18344	922	32	2	141	2	ZW10	11	113607355	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	41307113	113607355	21399161	55	57167											
HSPA8	3312	broad.mit.edu	37	chr11	122928983	122928983	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	attcttatcaagccagttgaTaatttcattacacttgtcca	12	16	4	9	0	3	1	2	1	1	0	4	1	4	1	2	0	2	1	2	0	4	7			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:122928983T>C	ENST00000534624.1	-	8	2008	c.1732A>G	c.(1732-1734)Atc>Gtc	p.I578V	HSPA8_ENST00000453788.2_Intron|HSPA8_ENST00000526110.1_Missense_Mutation_p.I559V|HSPA8_ENST00000532636.1_Missense_Mutation_p.I578V|HSPA8_ENST00000227378.3_Missense_Mutation_p.I578V|HSPA8_ENST00000533540.1_Missense_Mutation_p.I432V|HSPA8_ENST00000534319.1_Missense_Mutation_p.I342V	NM_006597.4	NP_006588.1	P11142	HSP7C_HUMAN	heat shock 70kDa protein 8	578					cellular membrane organization|interspecies interaction between organisms|mRNA metabolic process|negative regulation of transcription, DNA-dependent|neurotransmitter secretion|post-Golgi vesicle-mediated transport|protein folding|response to unfolded protein|transcription, DNA-dependent	cell surface|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|cytosol|melanosome|plasma membrane|ribonucleoprotein complex	ATP binding|ATPase activity, coupled|protein binding			breast(1)|central_nervous_system(7)|endometrium(1)|kidney(9)|large_intestine(4)|lung(13)|upper_aerodigestive_tract(1)	36		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0279)		AGCCAGTTGATAATTTCATTA	0.393													C	122928983	T	C	122928983	3	2	765	1	0	0	0	0	1	0	0	0	7473	1406	49	3	216	3	HSPA8	11	122928983	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	9321628	122928983	12077533	56	57168											
OR8B3	390271	broad.mit.edu	37	chr11	124266802	124266802	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctccagccaatcccattatgTaagcagcaaaagtgagcata	15	8	7	11	0	0	1	0	1	0	0	2	1	2	1	3	0	4	4	3	0	6	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr11:124266802T>A	ENST00000354597.3	-	1	462	c.446A>T	c.(445-447)tAc>tTc	p.Y149F		NM_001005467.1	NP_001005467.1	Q8NGG8	OR8B3_HUMAN	olfactory receptor, family 8, subfamily B, member 3	149					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	14		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		TCCCATTATGTAAGCAGCAAA	0.473													A	124266802	T	A	124266802	3	1	765	1	0	0	0	0	1	0	0	0	11304	1638	57	5	497	5	OR8B3	11	124266802	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	1337819	124266802	10739714	57	57169											
LRP6	4040	broad.mit.edu	37	chr12	12279789	12279789	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagttccagacacaaaaatgGtgacaattacgccaataaca	18	7	6	10	1	0	2	0	1	0	1	1	2	1	2	2	1	2	1	2	1	6	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:12279789G>A	ENST00000261349.4	-	20	4224	c.4148C>T	c.(4147-4149)aCc>aTc	p.T1383I	LRP6_ENST00000543091.1_Missense_Mutation_p.T1338I|BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_Intron	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1383					cellular response to cholesterol|negative regulation of protein phosphorylation|negative regulation of protein serine/threonine kinase activity|negative regulation of smooth muscle cell apoptosis|neural crest formation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell cycle|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	cell surface|cytoplasmic vesicle|endoplasmic reticulum|integral to membrane|plasma membrane	coreceptor activity|frizzled binding|kinase inhibitor activity|low-density lipoprotein receptor activity|protein homodimerization activity|toxin transporter activity|Wnt-protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				CACAAAAATGGTGACAATTAC	0.408													A	12279789	G	A	12279789	3	1	765	1	0	0	0	0	1	0	0	0	9032	1261	44	2	709	2	LRP6	12	12279789	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		12279789	121572106	58	57170											
CAPRIN2	65981	broad.mit.edu	37	chr12	30882096	30882096	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtgcttaccagaagcctccCaggacttaaaggactcctgt	10	9	10	12	0	0	1	0	0	0	1	2	3	2	3	4	3	3	1	4	3	4	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:30882096C>A	ENST00000251071.5	-	8	2018	c.1268G>T	c.(1267-1269)tGg>tTg	p.W423L	CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.W90L|CAPRIN2_ENST00000395805.2_Missense_Mutation_p.W423L|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.W423L|CAPRIN2_ENST00000298892.5_Missense_Mutation_p.W423L	NM_001002259.1|NM_032156.3	NP_001002259.1|NP_115532.3	Q6IMN6	CAPR2_HUMAN	caprin family member 2	423					negative regulation of cell growth|negative regulation of translation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of dendrite morphogenesis|positive regulation of dendritic spine morphogenesis|positive regulation of peptidyl-serine phosphorylation|positive regulation of protein binding|positive regulation of transcription from RNA polymerase II promoter	mitochondrion|receptor complex	receptor binding|RNA binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGAAGCCTCCCAGGACTTAAA	0.468													A	30882096	C	A	30882096	3	1	765	1	0	0	0	0	1	0	0	0	2662	595	21	4	2159	4	CAPRIN2	12	30882096	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	18602307	30882096	102969799	59	57171											
PRICKLE1	144165	broad.mit.edu	37	chr12	42854058	42854058	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acaagattcagggcattgtcGgagcgggactttctacttct	9	12	11	9	2	3	1	1	0	2	1	4	3	3	3	0	3	2	1	0	3	2	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:42854058G>A	ENST00000455697.1	-	8	2334	c.2049C>T	c.(2047-2049)tcC>tcT	p.S683S	PRICKLE1_ENST00000548696.1_Silent_p.S683S|RP11-328C8.4_ENST00000547824.1_RNA|PRICKLE1_ENST00000445766.2_Silent_p.S683S|PRICKLE1_ENST00000552240.1_Silent_p.S683S|PRICKLE1_ENST00000345127.3_Silent_p.S683S	NM_001144882.1|NM_001144883.1	NP_001138354.1|NP_001138355.1	Q96MT3	PRIC1_HUMAN	prickle homolog 1 (Drosophila)	683					negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cardiac muscle cell myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein ubiquitination|protein import into nucleus	cytosol|nuclear membrane	zinc ion binding			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(13)|ovary(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	47	all_cancers(12;4.25e-05)|Breast(8;0.176)			GBM - Glioblastoma multiforme(48;0.2)		GGGCATTGTCGGAGCGGGACT	0.483													A	42854058	G	A	42854058	2	1	765	1	0	0	0	0	0	0	0	1	12572	1103	39	1		1	PRICKLE1	12	42854058	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	11971962	42854058	90997837	60	57172											
LRP1	4035	broad.mit.edu	37	chr12	57575037	57575037	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgctcctgcatgtgcacagcCggctatagcctccggagtgg	6	8	13	14	3	0	0	0	0	0	0	2	1	2	1	4	3	4	4	4	3	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:57575037C>T	ENST00000243077.3	+	34	6091	c.5625C>T	c.(5623-5625)gcC>gcT	p.A1875A		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	1875	EGF-like 8.				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	TGTGCACAGCCGGCTATAGCC	0.642													T	57575037	C	T	57575037	2	4	765	1	0	0	0	0	0	0	0	1	9021	639	23	1		1	LRP1	12	57575037	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14720979	57575037	76276858	61	57173											
CCDC64	92558	broad.mit.edu	37	chr12	120509568	120509568	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctgtcagagatcgagcagaGcatggaggctgaggagctgg	10	6	17	8	1	1	3	1	1	0	2	2	7	1	5	1	4	3	4	1	4	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr12:120509568G>A	ENST00000397558.2	+	5	1052	c.1052G>A	c.(1051-1053)aGc>aAc	p.S351N	CCDC64_ENST00000446727.2_Missense_Mutation_p.S95N|CCDC64_ENST00000257583.4_5'UTR	NM_207311.2	NP_997194.2	Q6ZP65	BICR1_HUMAN	coiled-coil domain containing 64	351					Golgi to secretory granule transport|neuron projection development	centrosome	dynactin binding|Rab GTPase binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(2)|lung(4)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	22	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					ATCGAGCAGAGCATGGAGGCT	0.612													A	120509568	G	A	120509568	3	1	765	1	0	0	0	0	1	0	0	0	2863	971	34	2	1070	2	CCDC64	12	120509568	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	62934531	120509568	13342327	62	57174											
HS6ST3	266722	broad.mit.edu	37	chr13	97485304	97485304	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gcagcgctaccaccacaccaAgcagctagagcaccagaggg	13	2	11	15	1	0	2	0	0	0	2	0	2	0	2	4	1	5	5	4	1	3	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:97485304A>G	ENST00000376705.2	+	2	1292	c.1268A>G	c.(1267-1269)aAg>aGg	p.K423R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	423						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CACCACACCAAGCAGCTAGAG	0.592													G	97485304	A	G	97485304	3	3	765	1	0	0	0	0	1	0	0	0	7427	72	3	3	1274	3	HS6ST3	13	97485304	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08		97485304	17684574	63	57175											
DOCK9	23348	broad.mit.edu	37	chr13	99532924	99532924	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatggctcagccttatacgcGtactttgaagaaaagagaaa	15	10	9	7	2	1	3	1	1	0	2	1	4	1	3	1	1	3	2	1	1	8	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr13:99532924G>A	ENST00000376460.1	-	26	2828	c.2748C>T	c.(2746-2748)taC>taT	p.Y916Y	DOCK9_ENST00000339416.2_Silent_p.Y917Y|DOCK9_ENST00000448493.2_Silent_p.Y928Y|DOCK9_ENST00000442173.1_Silent_p.Y916Y	NM_001130048.1|NM_015296.2	NP_001123520.1|NP_056111.1	Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	917					blood coagulation	cytosol|endomembrane system|membrane	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					CCTTATACGCGTACTTTGAAG	0.463													A	99532924	G	A	99532924	2	1	765	1	0	0	0	0	0	0	0	1	4733	1140	40	1		1	DOCK9	13	99532924	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	2047620	99532924	15636954	64	57176											
C14orf37	145407	broad.mit.edu	37	chr14	58605952	58605952	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatcggactgccctttttccGcatgaacatgtgctatctcc	7	14	7	13	2	1	1	0	1	1	0	4	2	2	2	3	1	3	2	3	1	3	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr14:58605952G>A	ENST00000267485.7	-	2	319	c.125C>T	c.(124-126)gCg>gTg	p.A42V	C14orf37_ENST00000334342.5_5'UTR	NM_001001872.2	NP_001001872.2	Q86TY3	CN037_HUMAN	chromosome 14 open reading frame 37	42						integral to membrane	binding			breast(7)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(16)|pancreas(1)|skin(1)	33						CCCTTTTTCCGCATGAACATG	0.473													A	58605952	G	A	58605952	3	1	765	1	0	0	0	0	1	0	0	0	1784	1087	38	1	2227	1	C14orf37	14	58605952	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		58605952	48743588	65	57177											
KIAA1024	23251	broad.mit.edu	37	chr15	79750572	79750572	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagcaacagtgaaagcctgCgggtcaaggccttaaaaaaa	16	5	12	8	1	1	1	1	1	0	0	1	2	1	2	2	3	4	1	2	3	7	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:79750572C>T	ENST00000305428.3	+	2	2158	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W		NM_015206.2	NP_056021.1	Q9UPX6	K1024_HUMAN	KIAA1024	695						integral to membrane		p.R695W(1)		central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(2)|pancreas(2)|prostate(1)	49						TGAAAGCCTGCGGGTCAAGGC	0.542													T	79750572	C	T	79750572	3	4	765	1	0	0	0	0	1	0	0	0	8263	759	27	1	2085	1	KIAA1024	15	79750572	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		79750572	22780820	66	57178											
SV2B	9899	broad.mit.edu	37	chr15	91769716	91769716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctccagaatggacagccttCggggccagacagacctgatg	10	6	12	13	1	0	4	0	1	0	3	2	5	1	5	5	3	1	0	5	3	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr15:91769716C>T	ENST00000394232.1	+	2	693	c.223C>T	c.(223-225)Cgg>Tgg	p.R75W	SV2B_ENST00000545111.2_Intron|SV2B_ENST00000557291.1_Intron|SV2B_ENST00000330276.4_Missense_Mutation_p.R75W	NM_014848.4	NP_055663.1	Q7L1I2	SV2B_HUMAN	synaptic vesicle glycoprotein 2B	75					neurotransmitter transport	acrosomal vesicle|cell junction|integral to membrane|synaptic vesicle membrane	transmembrane transporter activity			NS(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(17)|ovary(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	42	Lung NSC(78;0.0987)|all_lung(78;0.172)		BRCA - Breast invasive adenocarcinoma(143;0.0895)			GGACAGCCTTCGGGGCCAGAC	0.587													T	91769716	C	T	91769716	3	4	765	1	0	0	0	0	1	0	0	0	15514	875	31	1	225	1	SV2B	15	91769716	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	12019144	91769716	10761676	67	57179											
THOC6	79228	broad.mit.edu	37	chr16	3075924	3075924	+	Splice_Site	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcccctccgctgtccctgcaGcttgtcctctgctttgagct	2	14	8	17	1	1	1	0	1	1	0	5	1	5	1	5	0	4	5	5	0	0	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3075924G>C	ENST00000326266.8	+	3	451		c.e3-1		THOC6_ENST00000574549.1_Splice_Site|THOC6_ENST00000253952.9_Splice_Site|THOC6_ENST00000575576.1_Splice_Site	NM_024339.3	NP_077315.2	Q86W42	THOC6_HUMAN	THO complex 6 homolog (Drosophila)						intronless viral mRNA export from host nucleus|mRNA processing|RNA splicing	THO complex part of transcription export complex	RNA binding			central_nervous_system(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	13						TGTCCCTGCAGCTTGTCCTCT	0.582													C	3075924	G	C	3075924	5	2	765	1	0	0	0	0	0	0	1	0	15969	985	34	4	165	4	THOC6	16	3075924	Splice_Site	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08		3075924	87278829	68	57180											
NLRC3	197358	broad.mit.edu	37	chr16	3614464	3614464	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccatgggcccagaggcggacGaagtgcctcaccagggtggt	8	5	16	12	2	1	1	1	0	0	1	1	3	1	2	4	5	1	0	4	5	1	0	rs150523532	by1000genomes	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:3614464G>A	ENST00000301749.7	-	0	879				NLRC3_ENST00000448023.2_RNA|NLRC3_ENST00000419350.2_RNA|NLRC3_ENST00000359128.5_RNA|NLRC3_ENST00000603507.1_RNA|NLRC3_ENST00000324659.8_RNA	NM_178844.2	NP_849172.2	Q7RTR2	NLRC3_HUMAN	NLR family, CARD domain containing 3						I-kappaB kinase/NF-kappaB cascade|negative regulation of NF-kappaB transcription factor activity|T cell activation	cytoplasm	ATP binding			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(1)|liver(1)|lung(16)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGAGGCGGACGAAGTGCCTCA	0.657													A	3614464	G	A	3614464	1	1	765	0	1	0	0	0	0	0	0	0	10544	1049	37	1		1	NLRC3	16	3614464	RNA	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	538540	3614464	86740289	69	57181											
GRIN2A	2903	broad.mit.edu	37	chr16	9934647	9934647	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgccatgactgcccgtTgatagaccacctggatgcaa	11	8	9	13	1	0	3	0	2	0	1	0	4	0	4	4	1	4	2	4	1	3	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:9934647T>G	ENST00000396573.2	-	8	1817	c.1508A>C	c.(1507-1509)cAa>cCa	p.Q503P	GRIN2A_ENST00000330684.3_Missense_Mutation_p.Q503P|GRIN2A_ENST00000404927.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000396575.2_Missense_Mutation_p.Q503P|GRIN2A_ENST00000535259.1_Missense_Mutation_p.Q346P|GRIN2A_ENST00000562109.1_Missense_Mutation_p.Q503P	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	503					response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding			NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Felbamate(DB00949)|Glycine(DB00145)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)	GACTGCCCGTTGATAGACCAC	0.453													G	9934647	T	G	9934647	3	3	765	1	0	0	0	0	1	0	0	0	6834	1812	63	5	2914	5	GRIN2A	16	9934647	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	6320183	9934647	80420106	70	57182											
ZNF423	23090	broad.mit.edu	37	chr16	49672488	49672488	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actcgtggcagtgatacttcTtgtcgcccgtatgcagcttg	6	13	11	11	3	1	1	0	1	1	0	3	1	1	1	1	1	3	4	1	1	2	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:49672488T>C	ENST00000561648.1	-	4	628	c.575A>G	c.(574-576)aAg>aGg	p.K192R	ZNF423_ENST00000535559.1_Missense_Mutation_p.K75R|ZNF423_ENST00000563137.2_Missense_Mutation_p.K132R|ZNF423_ENST00000262383.2_Missense_Mutation_p.K192R|ZNF423_ENST00000562871.1_Missense_Mutation_p.K132R|ZNF423_ENST00000567169.1_Missense_Mutation_p.K75R|ZNF423_ENST00000562520.1_Missense_Mutation_p.K132R	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	192					cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGATACTTCTTGTCGCCCGT	0.587													C	49672488	T	C	49672488	3	2	765	1	0	0	0	0	1	0	0	0	17999	1609	56	3	3299	3	ZNF423	16	49672488	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08	39737841	49672488	40682265	71	57183											
PABPN1L	390748	broad.mit.edu	37	chr16	88932977	88932977	+	Frame_Shift_Del	DEL	G	G	-																															tctggagccaggcctgagtcGggggtgggaagagagagcgg																										TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr16:88932977delG	ENST00000419291.2	-	1	49	c.38delC	c.(37-39)ccgfs	p.P13fs	PABPN1L_ENST00000427766.1_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000378358.4_Frame_Shift_Del_p.P13fs|PABPN1L_ENST00000411789.2_Frame_Shift_Del_p.P13fs	NM_001080487.2	NP_001073956.2	A6NDY0	EPAB2_HUMAN	poly(A) binding protein, nuclear 1-like (cytoplasmic)	13						cytoplasm	nucleotide binding|RNA binding			kidney(1)	1						GGCCTGAGTCGGGGGTGGGAA	0.692													-	88932977	G	-	88932977	7	5	765	1	0	1	0	1	0	0	0	0	11445	1116	39	0	858	0	PABPN1L	16	88932977	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RM-01A-11D-A33T-08	39260489	88932977	1421776	72	57184											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000359597.4_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	765	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		7578406	73616804	73	57185											
MYH8	4626	broad.mit.edu	37	chr17	10303745	10303745	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctgcgttactgctgaggtCatcagtctccatcttcagct	6	14	8	13	1	6	1	3	1	3	0	7	1	6	1	1	1	4	3	1	1	1	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10303745C>A	ENST00000403437.2	-	27	3791	c.3697G>T	c.(3697-3699)Gac>Tac	p.D1233Y	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1233					muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						CTGCTGAGGTCATCAGTCTCC	0.473									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling				A	10303745	C	A	10303745	3	1	765	1	0	0	0	0	1	0	0	0	10117	826	29	4	2172	4	MYH8	17	10303745	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	2725339	10303745	70891465	74	57186											
MYH4	4622	broad.mit.edu	37	chr17	10356568	10356568	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agggtctgctggtgggcctcCtggagagccttcttctcctt	3	13	13	12	0	3	1	0	0	3	1	5	2	4	1	4	4	2	1	4	4	0	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:10356568C>G	ENST00000255381.2	-	24	3122	c.3012G>C	c.(3010-3012)caG>caC	p.Q1004H	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1004					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						GGTGGGCCTCCTGGAGAGCCT	0.498													G	10356568	C	G	10356568	3	3	765	1	0	0	0	0	1	0	0	0	10113	680	24	4	2875	4	MYH4	17	10356568	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	52823	10356568	70838642	75	57187											
MYO18A	399687	broad.mit.edu	37	chr17	27493471	27493471	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tcacctccacctgtggcgagGgggcggcagagtgctctgag	6	7	16	12	2	2	2	1	1	1	1	3	3	3	2	3	4	1	2	3	4	0	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:27493471G>A	ENST00000527372.1	-	2	668	c.488C>T	c.(487-489)cCc>cTc	p.P163L	MYO18A_ENST00000531253.1_Missense_Mutation_p.P163L|MYO18A_ENST00000533112.1_Missense_Mutation_p.P163L|MYO18A_ENST00000354329.4_Missense_Mutation_p.P163L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	163					anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			CTGTGGCGAGGGGGCGGCAGA	0.627													A	27493471	G	A	27493471	3	1	765	1	0	0	0	0	1	0	0	0	10141	1232	43	2	5840	2	MYO18A	17	27493471	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	17136903	27493471	53701739	76	57188											
EPX	8288	broad.mit.edu	37	chr17	56274334	56274334	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccgcatcaagaaccagcGtgactgcatccctttcttcc	8	9	6	18	2	2	2	1	1	1	1	4	2	4	2	5	0	3	2	5	0	2	2			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr17:56274334G>A	ENST00000225371.5	+	7	946	c.836G>A	c.(835-837)cGt>cAt	p.R279H		NM_000502.4	NP_000493.1	P11678	PERE_HUMAN	eosinophil peroxidase	279					hydrogen peroxide catabolic process		heme binding|peroxidase activity|protein binding			breast(2)|endometrium(9)|kidney(1)|large_intestine(9)|liver(2)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	48						AAGAACCAGCGTGACTGCATC	0.577													A	56274334	G	A	56274334	3	1	765	1	0	0	0	0	1	0	0	0	5241	1145	40	1	862	1	EPX	17	56274334	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	28780863	56274334	24920876	77	57189											
KIAA1328	57536	broad.mit.edu	37	chr18	34465544	34465545	+	Frame_Shift_Del	DEL	AG	AG	-																															agtgaggaaaaggaagtgacAgaggaaagactgaaagctga																										TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:34465544_34465545delAG	ENST00000591619.1	+	5	1131_1132	c.345_346delAG	c.(343-348)acagagfs	p.E117fs	KIAA1328_ENST00000543923.1_Frame_Shift_Del_p.E13fs|KIAA1328_ENST00000435985.2_5'UTR|KIAA1328_ENST00000280020.5_Frame_Shift_Del_p.E121fs|KIAA1328_ENST00000592521.1_Frame_Shift_Del_p.E121fs			Q86T90	K1328_HUMAN	KIAA1328	121										central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|skin(2)|upper_aerodigestive_tract(1)	14				COAD - Colon adenocarcinoma(74;0.195)		AGGAAGTGACAGAGGAAAGACT	0.347													-	34465545	AG	-	34465544	7	5	765	1	0	1	0	1	0	0	0	0	8283	175	7	0	375	0	KIAA1328	18	34465544	Frame_Shift_Del	DEL	AG	TCGA-TQ-A7RM-01A-11D-A33T-08		34465544	43611704	78	57190											
ALPK2	115701	broad.mit.edu	37	chr18	56202817	56202817	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaggtgaagtgggggaaatCaattctgctttgtccttttt	9	15	12	5	0	2	2	1	1	1	1	3	3	3	3	1	3	1	1	1	3	3	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56202817C>A	ENST00000361673.3	-	5	4815	c.4602G>T	c.(4600-4602)ttG>ttT	p.L1534F	RP11-1151B14.4_ENST00000591360.1_RNA	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	1534							ATP binding|protein serine/threonine kinase activity			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						TGGGGGAAATCAATTCTGCTT	0.463													A	56202817	C	A	56202817	3	1	765	1	0	0	0	0	1	0	0	0	545	825	29	4	1946	4	ALPK2	18	56202817	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	21737273	56202817	21874431	79	57191											
MALT1	10892	broad.mit.edu	37	chr18	56367772	56367772	+	Frame_Shift_Del	DEL	T	T	-																															ataacaatttcacctttgaaTtcagccagtggtcacagctg																										TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr18:56367772delT	ENST00000348428.3	+	4	856	c.598delT	c.(598-600)ttcfs	p.F200fs	RP11-126O1.4_ENST00000588835.1_RNA|MALT1_ENST00000345724.3_Frame_Shift_Del_p.F200fs	NM_006785.2|NM_173844.1	NP_006776.1|NP_776216.1	Q9UDY8	MALT1_HUMAN	mucosa associated lymphoid tissue lymphoma translocation gene 1	200	Ig-like C2-type 1.				activation of NF-kappaB-inducing kinase activity|anti-apoptosis|nuclear export|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-2 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphorylation|positive regulation of protein ubiquitination|positive regulation of T cell cytokine production|protein oligomerization|proteolysis|T cell receptor signaling pathway	CBM complex|cytosol|nucleus|perinuclear region of cytoplasm	cysteine-type endopeptidase activity|protein self-association|signal transducer activity|ubiquitin-protein ligase activity			central_nervous_system(1)|large_intestine(7)|lung(1)|ovary(2)|skin(1)	12						CACCTTTGAATTCAGCCAGTG	0.403			T	BIRC3	MALT								-	56367772	T	-	56367772	7	5	765	1	0	1	0	1	0	0	0	0	9277	1493	52	0	612	0	MALT1	18	56367772	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RM-01A-11D-A33T-08	164955	56367772	21709476	80	57192											
ZNF561	93134	broad.mit.edu	37	chr19	9721559	9721559	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaaaattagtgaaggattTcccacatttcttagtctttt	13	16	6	6	0	2	2	0	1	2	1	3	3	3	3	1	1	0	0	1	1	5	6			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:9721559T>C	ENST00000302851.3	-	6	1141	c.778A>G	c.(778-780)Aaa>Gaa	p.K260E	ZNF561_ENST00000326044.5_3'UTR|ZNF561_ENST00000354661.4_Missense_Mutation_p.K124E|ZNF561_ENST00000424629.1_Missense_Mutation_p.K191E	NM_152289.2	NP_689502.2	Q8N587	ZN561_HUMAN	zinc finger protein 561	260					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)	14						GTGAAGGATTTCCCACATTTC	0.368													C	9721559	T	C	9721559	3	2	765	1	0	0	0	0	1	0	0	0	18093	1792	62	3	686	3	ZNF561	19	9721559	Missense_Mutation	SNP	T	TCGA-TQ-A7RM-01A-11D-A33T-08		9721559	49407424	81	57193											
ZNF676	163223	broad.mit.edu	37	chr19	22363970	22363970	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	atactcttataataagtaagGgttgaggaccagttaaaagc	16	11	9	5	0	1	1	0	1	1	0	1	2	1	2	1	2	2	3	1	2	7	7			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:22363970G>T	ENST00000397121.2	-	3	866	c.549C>A	c.(547-549)acC>acA	p.T183T		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	183				TLTYYKSI -> NLMEHKRV (in Ref. 2; BAC05174).	regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				AATAAGTAAGGGTTGAGGACC	0.348													T	22363970	G	T	22363970	2	4	765	1	0	0	0	0	0	0	0	1	18184	1219	43	4		4	ZNF676	19	22363970	Silent	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	12642411	22363970	36765013	82	57194											
GPATCH1	55094	broad.mit.edu	37	chr19	33581715	33581715	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctacctttgtgtcttcaCgacagaacagagcagacaaa	13	9	7	12	1	3	3	1	0	2	3	3	4	3	3	2	0	3	1	2	0	3	3	rs144223467	byFrequency	TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:33581715C>T	ENST00000170564.2	+	3	552	c.238C>T	c.(238-240)Cga>Tga	p.R80*		NM_018025.2	NP_060495.2	Q9BRR8	GPTC1_HUMAN	G patch domain containing 1	80						catalytic step 2 spliceosome	nucleic acid binding			breast(4)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(15)|prostate(4)|skin(4)	40	Esophageal squamous(110;0.137)					TGTGTCTTCACGACAGAACAG	0.388													T	33581715	C	T	33581715	4	4	765	1	0	0	0	0	0	1	0	0	6644	528	19	1	248	1	GPATCH1	19	33581715	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	11217745	33581715	25547268	83	57195											
ZNF701	55762	broad.mit.edu	37	chr19	53086322	53086322	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgtgacaaagttttcagtcGcaaatcacaccttgaaagac	15	10	7	9	1	2	3	2	2	0	1	3	3	2	3	1	0	0	2	1	0	3	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chr19:53086322G>A	ENST00000540331.1	+	5	1433	c.1208G>A	c.(1207-1209)cGc>cAc	p.R403H	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_Missense_Mutation_p.R337H|ZNF701_ENST00000301093.2_Missense_Mutation_p.R403H	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	337					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		GTTTTCAGTCGCAAATCACAC	0.398													A	53086322	G	A	53086322	3	1	765	1	0	0	0	0	1	0	0	0	18206	1087	38	1	1222	1	ZNF701	19	53086322	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	19504607	53086322	6042661	84	57196											
RS1	6247	broad.mit.edu	37	chrX	18660259	18660259	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaccgtggaggtgcggtcCgagttgccatagaagaccta	10	8	14	9	3	0	3	0	1	0	2	1	5	1	4	4	3	3	1	4	3	4	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:18660259C>T	ENST00000379984.3	-	6	580	c.540G>A	c.(538-540)tcG>tcA	p.S180S	CDKL5_ENST00000379989.3_Intron|CDKL5_ENST00000379996.3_Intron|RS1_ENST00000476595.1_5'UTR	NM_000330.3	NP_000321.1	O15537	XLRS1_HUMAN	retinoschisin 1	180	F5/8 type C.				cell adhesion|multicellular organismal development|response to stimulus|visual perception	extracellular space				cervix(1)|endometrium(4)|large_intestine(5)|lung(2)|ovary(2)|skin(1)	15	Hepatocellular(33;0.183)					AGGTGCGGTCCGAGTTGCCAT	0.587													T	18660259	C	T	18660259	2	4	765	1	0	0	0	0	0	0	0	1	13784	639	23	1		1	RS1	23	18660259	Silent	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08		18660259	136610301	85	57197											
CASK	8573	broad.mit.edu	37	chrX	41383253	41383253	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagcaatgaaaacaacaaaaGgagcaaactctgcagttctc	18	6	7	10	0	2	1	0	1	2	0	3	2	2	2	0	1	6	4	0	1	7	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:41383253G>A	ENST00000318588.9	-	26	2585	c.2540C>T	c.(2539-2541)cCt>cTt	p.P847L	CASK_ENST00000442742.2_Missense_Mutation_p.P824L|CASK_ENST00000361962.4_Missense_Mutation_p.P835L|CASK_ENST00000421587.2_Missense_Mutation_p.P823L|CASK_ENST00000378163.1_Missense_Mutation_p.P852L|CASK_ENST00000378166.4_Missense_Mutation_p.P847L|CASK_ENST00000378158.1_Missense_Mutation_p.P835L			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	852	Guanylate kinase-like.				cell adhesion	actin cytoskeleton|cytoplasm|nucleus|plasma membrane	ATP binding|calmodulin binding|guanylate kinase activity|protein serine/threonine kinase activity			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						AACAACAAAAGGAGCAAACTC	0.353													A	41383253	G	A	41383253	3	1	765	1	0	0	0	0	1	0	0	0	2691	1000	35	2	233	2	CASK	23	41383253	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	22722994	41383253	113887307	86	57198											
SLC9A7	84679	broad.mit.edu	37	chrX	46531996	46531996	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gttcacttacccaataatgaAgcatgaaacagcagtcccca	15	8	6	12	0	1	2	1	2	0	0	2	2	2	2	3	0	4	3	3	0	5	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:46531996A>G	ENST00000328306.4	-	4	695	c.670T>C	c.(670-672)Ttc>Ctc	p.F224L		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	224					regulation of pH	Golgi membrane|integral to membrane|recycling endosome membrane|trans-Golgi network	potassium:hydrogen antiporter activity|protein homodimerization activity|sodium:hydrogen antiporter activity			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CCAATAATGAAGCATGAAACA	0.383													G	46531996	A	G	46531996	3	3	765	1	0	0	0	0	1	0	0	0	14813	72	3	3	1563	3	SLC9A7	23	46531996	Missense_Mutation	SNP	A	TCGA-TQ-A7RM-01A-11D-A33T-08	5148743	46531996	108738564	87	57199											
CLCN5	1184	broad.mit.edu	37	chrX	49851213	49851213	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gcacaaacattgcctggtgtCggaagcgaaagaccacccag	13	5	11	12	2	0	1	0	0	0	1	1	3	0	2	3	2	3	1	3	2	3	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:49851213C>T	ENST00000376088.3	+	11	1884	c.1243C>T	c.(1243-1245)Cgg>Tgg	p.R415W	CLCN5_ENST00000376108.3_Missense_Mutation_p.R345W|CLCN5_ENST00000307367.2_Missense_Mutation_p.R345W|CLCN5_ENST00000376091.3_Missense_Mutation_p.R415W	NM_001127898.1|NM_001127899.1	NP_001121370.1|NP_001121371.1	P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	345					excretion	apical part of cell|endosome membrane|Golgi membrane|integral to plasma membrane	antiporter activity|ATP binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					TGCCTGGTGTCGGAAGCGAAA	0.522													T	49851213	C	T	49851213	3	4	765	1	0	0	0	0	1	0	0	0	3497	875	31	1	1277	1	CLCN5	23	49851213	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	3319217	49851213	105419347	88	57200											
ZC3H12B	340554	broad.mit.edu	37	chrX	64722740	64722740	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	cgtgaggcaaagacgacctcCcctgtgccgggaacagcatg	10	5	13	13	3	0	2	0	1	0	1	1	4	1	3	4	2	3	2	4	2	2	0			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:64722740C>T	ENST00000338957.4	+	5	2229	c.2162C>T	c.(2161-2163)cCc>cTc	p.P721L	ZC3H12B_ENST00000423889.3_Missense_Mutation_p.P710L	NM_001010888.3	NP_001010888.3	Q5HYM0	ZC12B_HUMAN	zinc finger CCCH-type containing 12B	710							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						AGACGACCTCCCCTGTGCCGG	0.602													T	64722740	C	T	64722740	3	4	765	1	0	0	0	0	1	0	0	0	17663	623	22	2	2180	2	ZC3H12B	23	64722740	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	14871527	64722740	90547820	89	57201											
BRWD3	254065	broad.mit.edu	37	chrX	79932815	79932815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttctcttgattcctgtccGgggctctctgccatcaccat	4	16	7	14	1	3	1	1	1	2	0	7	1	5	1	4	2	1	1	4	2	0	4			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:79932815G>A	ENST00000373275.4	-	41	4918	c.4702C>T	c.(4702-4704)Cgg>Tgg	p.R1568W	BRWD3_ENST00000473691.1_5'UTR	NM_153252.4	NP_694984	Q6RI45	BRWD3_HUMAN	bromodomain and WD repeat domain containing 3	1568										breast(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(39)|ovary(4)|prostate(2)|skin(3)	87						ATTCCTGTCCGGGGCTCTCTG	0.358													A	79932815	G	A	79932815	3	1	765	1	0	0	0	0	1	0	0	0	1535	1115	39	1	710	1	BRWD3	23	79932815	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	15210075	79932815	75337745	90	57202											
PABPC5	140886	broad.mit.edu	37	chrX	90691183	90691183	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caactttcaccaatgttttcGttaaaaacattggagacgac	14	12	6	9	2	1	1	1	0	0	1	2	3	1	1	1	1	2	2	1	1	5	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:90691183G>A	ENST00000312600.3	+	2	821	c.607G>A	c.(607-609)Gtt>Att	p.V203I	PABPC5_ENST00000373105.1_Missense_Mutation_p.V39I	NM_080832.2	NP_543022.1	Q96DU9	PABP5_HUMAN	poly(A) binding protein, cytoplasmic 5	203	RRM 3.					cytoplasm	nucleotide binding|RNA binding	p.V203I(2)		central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(1)|pancreas(1)	42						CAATGTTTTCGTTAAAAACAT	0.448													A	90691183	G	A	90691183	3	1	765	1	0	0	0	0	1	0	0	0	11443	1145	40	1	609	1	PABPC5	23	90691183	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	10758368	90691183	64579377	91	57203											
CHRDL1	91851	broad.mit.edu	37	chrX	109937508	109937508	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaagcgggacagacctcCagcctgtcggcttggtggag	9	6	16	10	2	0	1	0	0	0	1	2	4	1	4	3	5	2	1	3	5	1	1			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:109937508C>A	ENST00000218054.4	-	8	854	c.658G>T	c.(658-660)Gga>Tga	p.G220*	CHRDL1_ENST00000444321.2_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000394797.4_Nonsense_Mutation_p.G220*|CHRDL1_ENST00000372042.1_Nonsense_Mutation_p.G221*|CHRDL1_ENST00000372045.1_Nonsense_Mutation_p.G214*|CHRDL1_ENST00000434224.1_Nonsense_Mutation_p.G141*|CHRDL1_ENST00000482160.1_Nonsense_Mutation_p.G141*	NM_001143981.1|NM_001143982.1|NM_145234.3	NP_001137453.1|NP_001137454.1|NP_660277.2	Q9BU40	CRDL1_HUMAN	chordin-like 1	214					BMP signaling pathway|cell differentiation|nervous system development|ossification	extracellular region				endometrium(1)|large_intestine(12)|liver(1)|lung(15)|prostate(1)|skin(1)	31						GACAGACCTCCAGCCTGTCGG	0.473													A	109937508	C	A	109937508	4	1	765	1	0	0	0	0	0	1	0	0	3403	603	21	4	735	4	CHRDL1	23	109937508	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	19246325	109937508	45333052	92	57204											
XPNPEP2	7512	broad.mit.edu	37	chrX	128879233	128879233	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggattacaggctttacaGggtctgcaggtgacaatcat	10	11	12	8	1	2	1	1	1	1	0	2	2	2	2	0	4	3	2	0	4	3	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:128879233G>T	ENST00000371106.3	+	4	481	c.289G>T	c.(289-291)Ggg>Tgg	p.G97W	XPNPEP2_ENST00000371105.3_Missense_Mutation_p.G97W	NM_003399.5	NP_003390.4	O43895	XPP2_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 2, membrane-bound	97					cellular process|proteolysis	anchored to membrane|plasma membrane	aminopeptidase activity|metal ion binding|metalloexopeptidase activity			endometrium(3)|kidney(3)|large_intestine(5)|liver(1)|lung(20)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	37						AGGCTTTACAGGGTCTGCAGG	0.493													T	128879233	G	T	128879233	3	4	765	1	0	0	0	0	1	0	0	0	17545	1000	35	4	303	4	XPNPEP2	23	128879233	Missense_Mutation	SNP	G	TCGA-TQ-A7RM-01A-11D-A33T-08	18941725	128879233	26391327	93	57205											
ENOX2	10495	broad.mit.edu	37	chrX	129843238	129843238	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcatagcctatttcgtagaCccacagccatctaaaatctc	12	11	5	13	1	2	1	0	0	2	1	4	1	2	1	3	0	3	2	3	0	5	5			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:129843238C>T	ENST00000338144.3	-	4	445	c.28G>A	c.(28-30)Gtc>Atc	p.V10I	ENOX2_ENST00000370927.1_Missense_Mutation_p.V10I|ENOX2_ENST00000492263.1_5'UTR|ENOX2_ENST00000394363.1_Intron|ENOX2_ENST00000370935.1_Intron	NM_182314.1	NP_872114.1	Q16206	ENOX2_HUMAN	ecto-NOX disulfide-thiol exchanger 2	10					cell growth|electron transport chain|regulation of growth|transport|ultradian rhythm	cytosol|external side of plasma membrane|extracellular space	nucleic acid binding|nucleotide binding|protein disulfide oxidoreductase activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|prostate(3)	33						ATTTCGTAGACCCACAGCCAT	0.423													T	129843238	C	T	129843238	3	4	765	1	0	0	0	0	1	0	0	0	5168	507	18	2	1856	2	ENOX2	23	129843238	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	964005	129843238	25427322	94	57206											
SPANXC	64663	broad.mit.edu	37	chrX	140336553	140336553	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgttggattcacaggggacgCtcctcttcaccccgccggca	6	8	11	16	4	3	0	2	0	1	0	4	2	4	2	4	4	0	3	4	4	0	3			TCGA-TQ-A7RM-01A-11D-A33T-08	TCGA-TQ-A7RM-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a2582eaf-86b7-466a-a917-c3ad6e2ee5c2	38f796fb-0896-4893-a7e4-9f2ac6290a42	g.chrX:140336553C>G	ENST00000358993.2	-	1	76	c.38G>C	c.(37-39)aGc>aCc	p.S13T		NM_022661.2	NP_073152.1	Q9NY87	SPNXC_HUMAN	SPANX family, member C	13						cytoplasm|nucleus				large_intestine(2)|lung(3)|pancreas(1)	6	Acute lymphoblastic leukemia(192;7.65e-05)					ACAGGGGACGCTCCTCTTCAC	0.507													G	140336553	C	G	140336553	3	3	765	1	0	0	0	0	1	0	0	0	15083	797	28	4	263	4	SPANXC	23	140336553	Missense_Mutation	SNP	C	TCGA-TQ-A7RM-01A-11D-A33T-08	10493315	140336553	14934007	95	57207											
CLK2	1196	broad.mit.edu	37	chr1	155240701	155240701	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgcttatgctttcggctcCgatagtgttcacggtaactc	6	14	10	11	4	1	0	1	0	0	0	5	1	2	0	1	2	2	5	1	2	3	5			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr1:155240701C>T	ENST00000368361.4	-	2	383	c.68G>A	c.(67-69)cGg>cAg	p.R23Q	CLK2_ENST00000536801.1_Missense_Mutation_p.R23Q|CLK2_ENST00000355560.4_Missense_Mutation_p.R23Q|CLK2_ENST00000361168.5_Missense_Mutation_p.R23Q			P49760	CLK2_HUMAN	CDC-like kinase 2	23						nucleus	ATP binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CTTTCGGCTCCGATAGTGTTC	0.572								Other conserved DNA damage response genes					T	155240701	C	T	155240701	3	4	766	1	0	0	0	0	1	0	0	0	3568	652	23	1	1476	1	CLK2	1	155240701	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08		155240701	94009920	1	57208											
NEB	4703	broad.mit.edu	37	chr2	152420364	152420364	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcaccagatcagcatgcttGgctccaacaatgggaatgta	12	10	9	10	0	2	1	2	0	0	1	3	2	3	2	2	2	3	4	2	2	4	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:152420364G>A	ENST00000427231.2	-	118	18754	c.18552C>T	c.(18550-18552)gcC>gcT	p.A6184A	NEB_ENST00000397345.3_Silent_p.A6184A|NEB_ENST00000409198.1_Silent_p.A4483A|NEB_ENST00000604864.1_Silent_p.A6184A|NEB_ENST00000603639.1_Silent_p.A6184A|NEB_ENST00000172853.10_Silent_p.A4483A	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	6173					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		CAGCATGCTTGGCTCCAACAA	0.488													A	152420364	G	A	152420364	2	1	766	1	0	0	0	0	0	0	0	1	10378	1335	47	2		2	NEB	2	152420364	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		152420364	90779009	2	57209											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	766	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	56692748	209113112	34086261	3	57210											
TRIP12	9320	broad.mit.edu	37	chr2	230633990	230633990	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcctacagcattccatcaGtgtctttgcatcccaagtgt	9	12	8	12	0	2	0	1	0	1	0	4	0	4	0	3	1	3	2	3	1	2	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr2:230633990G>C	ENST00000283943.5	-	39	5813	c.5635C>G	c.(5635-5637)Ctg>Gtg	p.L1879V	TRIP12_ENST00000389045.3_Missense_Mutation_p.L1609V|TRIP12_ENST00000389044.4_Missense_Mutation_p.L1927V	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	1879					protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CATTCCATCAGTGTCTTTGCA	0.423													C	230633990	G	C	230633990	3	2	766	1	0	0	0	0	1	0	0	0	16657	1020	36	4	355	4	TRIP12	2	230633990	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	21520878	230633990	12565383	4	57211											
CNTN6	27255	broad.mit.edu	37	chr3	1415355	1415355	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	actacttctcaactaagttgGagagcaggcccagataataa	15	9	8	9	0	1	2	1	0	1	2	2	3	1	2	1	2	3	2	1	2	5	6			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:1415355G>C	ENST00000446702.2	+	15	2481	c.1854G>C	c.(1852-1854)tgG>tgC	p.W618C	CNTN6_ENST00000350110.2_Missense_Mutation_p.W618C|CNTN6_ENST00000539053.1_Missense_Mutation_p.W546C			Q9UQ52	CNTN6_HUMAN	contactin 6	618	Fibronectin type-III 1.				axon guidance|cell adhesion|central nervous system development|Notch signaling pathway	anchored to membrane|plasma membrane				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		AACTAAGTTGGAGAGCAGGCC	0.443													C	1415355	G	C	1415355	3	2	766	1	0	0	0	0	1	0	0	0	3676	1183	41	4	1908	4	CNTN6	3	1415355	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		1415355	196607075	5	57212											
RFTN1	23180	broad.mit.edu	37	chr3	16475544	16475544	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgaggacccagggagctccGctggagtggagagaggagag	10	4	19	8	1	0	3	0	1	0	2	1	9	1	7	2	5	1	2	2	5	0	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:16475544G>A	ENST00000334133.4	-	3	418	c.146C>T	c.(145-147)gCg>gTg	p.A49V	RFTN1_ENST00000432519.1_Splice_Site_p.A13V	NM_015150.1	NP_055965.1	Q14699	RFTN1_HUMAN	raftlin, lipid raft linker 1	49						plasma membrane				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(8)|lung(8)|ovary(4)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	38						AGGGAGCTCCGCTGGAGTGGA	0.662													A	16475544	G	A	16475544	5	1	766	1	0	0	0	0	0	0	1	0	13346	1101	38	1	1622	1	RFTN1	3	16475544	Splice_Site	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	15060189	16475544	181546886	6	57213											
GADL1	339896	broad.mit.edu	37	chr3	30842415	30842415	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agcacgattaactctttcttCaaggcctaatgtacccaggg	11	11	8	11	1	3	0	1	0	2	0	3	1	3	0	2	2	3	2	2	2	4	5			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:30842415C>G	ENST00000454381.3	-	12	1262	c.1216G>C	c.(1216-1218)Gaa>Caa	p.E406Q	GADL1_ENST00000282538.5_Missense_Mutation_p.E406Q			Q6ZQY3	GADL1_HUMAN	glutamate decarboxylase-like 1	406					carboxylic acid metabolic process		carboxy-lyase activity|pyridoxal phosphate binding			breast(2)|endometrium(3)|kidney(2)|lung(17)|upper_aerodigestive_tract(1)	25					Pyridoxal Phosphate(DB00114)	ACTCTTTCTTCAAGGCCTAAT	0.468													G	30842415	C	G	30842415	3	3	766	1	0	0	0	0	1	0	0	0	6237	835	29	4	365	4	GADL1	3	30842415	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	14366871	30842415	167180015	7	57214											
NEK11	79858	broad.mit.edu	37	chr3	130992408	130992408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggccaggaccaagatgaaaCgcatgagggagtaagtagca	15	5	14	7	1	0	3	0	2	0	1	0	5	0	5	2	3	2	4	2	3	4	2	rs144676044	byFrequency	TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:130992408C>T	ENST00000383366.4	+	17	2001	c.1708C>T	c.(1708-1710)Cgc>Tgc	p.R570C	NEK11_ENST00000510769.1_Missense_Mutation_p.R465C|NEK11_ENST00000508196.1_Missense_Mutation_p.R570C|NEK11_ENST00000510688.1_Intron|NEK11_ENST00000429253.2_Missense_Mutation_p.R570C|NEK11_ENST00000412440.2_Missense_Mutation_p.R386C	NM_024800.4	NP_079076.3	Q8NG66	NEK11_HUMAN	NIMA-related kinase 11	570					cell cycle|intra-S DNA damage checkpoint|intracellular protein kinase cascade	nucleolus	ATP binding|identical protein binding|metal ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|lung(14)|stomach(1)|urinary_tract(2)	33						CAAGATGAAACGCATGAGGGA	0.478													T	130992408	C	T	130992408	3	4	766	1	0	0	0	0	1	0	0	0	10399	536	19	1	1784	1	NEK11	3	130992408	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	100149993	130992408	67030022	8	57215											
SLCO2A1	6578	broad.mit.edu	37	chr3	133670117	133670117	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agaggtgagaaccaataaagCtgaagaaatgagcaggccta	18	5	12	6	0	0	5	0	3	0	3	0	6	0	5	2	2	3	2	2	2	7	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr3:133670117C>A	ENST00000310926.4	-	6	1069	c.796G>T	c.(796-798)Gct>Tct	p.A266S	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.A190S	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	266					sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						ACCAATAAAGCTGAAGAAATG	0.498													A	133670117	C	A	133670117	3	1	766	1	0	0	0	0	1	0	0	0	14820	797	28	4	1171	4	SLCO2A1	3	133670117	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	2677709	133670117	64352313	9	57216											
MAN2B2	23324	broad.mit.edu	37	chr4	6578375	6578375	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctggcccgcggccagcagcGccggttcatcgctgtggagc	4	6	16	15	5	1	0	1	0	0	0	2	1	1	1	3	4	3	4	3	4	0	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:6578375G>A	ENST00000285599.3	+	2	245	c.209G>A	c.(208-210)cGc>cAc	p.R70H	MAN2B2_ENST00000504248.1_Missense_Mutation_p.R70H	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	70					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding	p.R70L(1)		breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						GGCCAGCAGCGCCGGTTCATC	0.627													A	6578375	G	A	6578375	3	1	766	1	0	0	0	0	1	0	0	0	9292	1087	38	1	215	1	MAN2B2	4	6578375	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		6578375	184575901	10	57217											
REST	5978	broad.mit.edu	37	chr4	57796227	57796227	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactatgcagcttccaagaaGtgtaatctacagtatcactt	13	12	7	9	0	2	1	1	0	1	1	3	2	3	1	1	0	3	4	1	0	6	6			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:57796227G>A	ENST00000309042.7	+	4	1517	c.1203G>A	c.(1201-1203)aaG>aaA	p.K401K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	401	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					CTTCCAAGAAGTGTAATCTAC	0.378													A	57796227	G	A	57796227	2	1	766	1	0	0	0	0	0	0	0	1	13322	1020	36	2		2	REST	4	57796227	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	51217852	57796227	133358049	11	57218											
UGT2A3	79799	broad.mit.edu	37	chr4	69796351	69796351	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tttctacagctgctcctttgGccttcatgtgagctatgtta	6	17	8	10	0	2	1	1	1	1	0	3	1	3	1	2	1	4	4	2	1	3	6			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:69796351G>A	ENST00000251566.4	-	5	1247	c.1217C>T	c.(1216-1218)gCc>gTc	p.A406V	UGT2A3_ENST00000420231.2_Missense_Mutation_p.A117V	NM_024743.3	NP_079019.3	Q6UWM9	UD2A3_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide A3	406						integral to membrane	glucuronosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(7)|lung(16)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						TGCTCCTTTGGCCTTCATGTG	0.428													A	69796351	G	A	69796351	3	1	766	1	0	0	0	0	1	0	0	0	17057	1203	42	2	374	2	UGT2A3	4	69796351	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	12000124	69796351	121357925	12	57219											
GK2	2712	broad.mit.edu	37	chr4	80329160	80329160	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacgttctcgctatacactcGtagacagactgaagaatttc	12	11	7	11	3	1	4	0	1	1	3	4	4	1	4	0	0	1	3	0	0	5	5			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr4:80329160G>A	ENST00000358842.3	-	1	212	c.195C>T	c.(193-195)taC>taT	p.Y65Y		NM_033214.2	NP_149991.2	Q14410	GLPK2_HUMAN	glycerol kinase 2	65					glycerol-3-phosphate metabolic process	mitochondrial outer membrane	ATP binding|glycerol kinase activity	p.Y65Y(1)		autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CTATACACTCGTAGACAGACT	0.408													A	80329160	G	A	80329160	2	1	766	1	0	0	0	0	0	0	0	1	6477	1140	40	1		1	GK2	4	80329160	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	10532809	80329160	110825116	13	57220											
GPR98	84059	broad.mit.edu	37	chr5	89949350	89949350	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttacaacagcacatgcggcGtcaccacagtggaacggatg	12	7	11	11	3	1	0	1	0	0	0	1	2	1	2	1	3	5	1	1	3	3	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:89949350G>A	ENST00000405460.2	+	20	4055	c.3959G>A	c.(3958-3960)cGt>cAt	p.R1320H		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1320				R -> G (in Ref. 2; AAL30811).	cell communication|cell-cell adhesion|maintenance of organ identity|neuropeptide signaling pathway|photoreceptor cell maintenance	cell surface|cytoplasm|integral to membrane|plasma membrane	calcium ion binding|G-protein coupled receptor activity			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACATGCGGCGTCACCACAGT	0.463													A	89949350	G	A	89949350	3	1	766	1	0	0	0	0	1	0	0	0	6776	1145	40	1	4037	1	GPR98	5	89949350	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		89949350	90965910	14	57221											
MEGF10	84466	broad.mit.edu	37	chr5	126758455	126758455	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccattgccgctgcctccccGgatggtcaggtgagagccaa	7	7	13	14	2	1	1	1	1	0	1	2	3	2	2	6	3	3	1	6	3	1	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr5:126758455G>A	ENST00000274473.6	+	14	1951	c.1684G>A	c.(1684-1686)Gga>Aga	p.G562R	MEGF10_ENST00000418761.2_Missense_Mutation_p.G562R|MEGF10_ENST00000508365.1_Missense_Mutation_p.G562R|MEGF10_ENST00000503335.2_Missense_Mutation_p.G562R	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	562	EGF-like 10.|Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		CTGCCTCCCCGGATGGTCAGG	0.572													A	126758455	G	A	126758455	3	1	766	1	0	0	0	0	1	0	0	0	9535	1117	39	1	1730	1	MEGF10	5	126758455	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	36809105	126758455	54156805	15	57222											
TFAP2A	7020	broad.mit.edu	37	chr6	10398786	10398786	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tctgcagggccgtgaccgcgGcacacaccgcggggctgccg	5	4	16	16	6	1	1	0	1	1	0	1	1	1	1	4	4	2	3	4	4	0	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:10398786G>A	ENST00000379613.3	-	7	1440	c.1184C>T	c.(1183-1185)gCc>gTc	p.A395V	TFAP2A_ENST00000482890.1_Missense_Mutation_p.A393V|TFAP2A_ENST00000379604.2_Missense_Mutation_p.A393V|TFAP2A_ENST00000379608.3_Missense_Mutation_p.A387V|TFAP2A_ENST00000319516.4_Missense_Mutation_p.A389V			P05549	AP2A_HUMAN	transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)	393	H-S-H (helix-span-helix), dimerization.				ectoderm development|positive regulation of bone mineralization|positive regulation of tooth mineralization|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter	centrosome|Golgi apparatus|nucleus	chromatin binding|protein dimerization activity|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	13	Breast(50;0.0427)|Ovarian(93;0.0991)	all_hematologic(90;0.107)				CGTGACCGCGGCACACACCGC	0.627													A	10398786	G	A	10398786	3	1	766	1	0	0	0	0	1	0	0	0	15887	1203	42	2	139	2	TFAP2A	6	10398786	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		10398786	160716281	16	57223											
HLA-DQA1	3117	broad.mit.edu	37	chr6	32609784	32609784	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtgttttccaagtctcccGtgacactgggtcagcccaac	8	10	9	14	1	2	1	1	1	1	0	4	1	3	1	3	1	2	1	3	1	2	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:32609784G>A	ENST00000343139.5	+	3	469	c.367G>A	c.(367-369)Gtg>Atg	p.V123M	HLA-DQA1_ENST00000374949.2_Missense_Mutation_p.V123M|HLA-DQA1_ENST00000395363.1_Missense_Mutation_p.V123M	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	122	Alpha-2.|Ig-like C1-type.				antigen processing and presentation of peptide or polysaccharide antigen via MHC class II|interferon-gamma-mediated signaling pathway|T cell costimulation|T cell receptor signaling pathway	endoplasmic reticulum membrane|endosome membrane|Golgi apparatus|integral to plasma membrane|lysosomal membrane|MHC class II protein complex	MHC class II receptor activity			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAGTCTCCCGTGACACTGGG	0.502													A	32609784	G	A	32609784	3	1	766	1	0	0	0	0	1	0	0	0	7259	1145	40	1	377	1	HLA-DQA1	6	32609784	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	22210998	32609784	138505283	17	57224											
RUNX2	860	broad.mit.edu	37	chr6	45390463	45390463	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacagcagcagcagcagcaGcaacagcagcagcagcagca	16	0	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:45390463G>A	ENST00000371438.1	+	2	550	c.192G>A	c.(190-192)caG>caA	p.Q64Q	RUNX2_ENST00000371436.6_Silent_p.Q64Q|RUNX2_ENST00000541979.1_Silent_p.Q132Q|RUNX2_ENST00000371432.3_Silent_p.Q50Q|RUNX2_ENST00000465038.2_Silent_p.Q64Q|RUNX2_ENST00000359524.5_Silent_p.Q50Q|RUNX2_ENST00000576263.1_Silent_p.Q64Q|RUNX2_ENST00000352853.5_Silent_p.Q132Q	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	64	Poly-Gln.				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						agcagcagcagcaacagcagc	0.736													A	45390463	G	A	45390463	2	1	766	1	0	0	0	0	0	0	0	1	13839	962	34	2		2	RUNX2	6	45390463	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	12780679	45390463	125724604	18	57225											
FBXO30	84085	broad.mit.edu	37	chr6	146125579	146125579	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccactgcagtatgaccatgcCacgagactgaagcaggctgc	11	6	11	13	1	0	3	0	2	0	1	0	4	0	3	3	1	4	4	3	1	2	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:146125579C>T	ENST00000237281.4	-	2	2129	c.1963G>A	c.(1963-1965)Ggc>Agc	p.G655S		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	655							ubiquitin-protein ligase activity|zinc ion binding			NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		ATGACCATGCCACGAGACTGA	0.438													T	146125579	C	T	146125579	3	4	766	1	0	0	0	0	1	0	0	0	5789	594	21	2	282	2	FBXO30	6	146125579	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	100735116	146125579	24989488	19	57226											
IYD	389434	broad.mit.edu	37	chr6	150715311	150715311	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aacaagtacatggtttcgccGcaaatggcaagaaaaaagtc	17	7	9	8	2	0	1	0	0	0	1	2	1	0	1	1	2	2	4	1	2	8	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr6:150715311G>A	ENST00000344419.3	+	4	747	c.607G>A	c.(607-609)Gca>Aca	p.A203T	IYD_ENST00000392256.2_Missense_Mutation_p.A203T|IYD_ENST00000500320.3_Missense_Mutation_p.A203T|IYD_ENST00000229447.5_Missense_Mutation_p.A203T|IYD_ENST00000392255.3_Missense_Mutation_p.A203T|IYD_ENST00000425615.3_Missense_Mutation_p.A148T	NM_203395.2	NP_981932.1	Q6PHW0	IYD1_HUMAN	iodotyrosine deiodinase	203					cellular nitrogen compound metabolic process|hormone biosynthetic process	integral to membrane|plasma membrane				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	15		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.215)	OV - Ovarian serous cystadenocarcinoma(155;4.16e-12)		TGGTTTCGCCGCAAATGGCAA	0.433													A	150715311	G	A	150715311	3	1	766	1	0	0	0	0	1	0	0	0	7990	1087	38	1	621	1	IYD	6	150715311	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	4589732	150715311	20399756	20	57227											
ZNF117	51351	broad.mit.edu	37	chr7	64439187	64439187	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gatcggttaaaagctttgccGcattcttcacattcataacg	11	13	7	10	3	3	0	2	0	1	0	4	1	3	0	1	1	3	3	1	1	3	6			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:64439187G>A	ENST00000282869.6	-	4	2046	c.762C>T	c.(760-762)tgC>tgT	p.C254C		NM_015852.3	NP_056936.2	Q03924	ZN117_HUMAN	zinc finger protein 117							nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|liver(1)|lung(6)|prostate(1)|skin(1)	22		Lung NSC(55;0.0295)|all_lung(88;0.0691)				AAGCTTTGCCGCATTCTTCAC	0.368													A	64439187	G	A	64439187	2	1	766	1	0	0	0	0	0	0	0	1	17818	1079	38	1		1	ZNF117	7	64439187	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		64439187	94699476	21	57228											
COPS6	10980	broad.mit.edu	37	chr7	99688278	99688281	+	Splice_Site	DEL	GTGA	GTGA	-																															ctatgaccaagcacacagatGtgagtaatactccatgccta																										TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:99688278_99688281delGTGA	ENST00000303904.3	+	5	523		c.e5+1		COPS6_ENST00000418625.1_Splice_Site	NM_006833.4	NP_006824.2	Q7L5N1	CSN6_HUMAN	COP9 signalosome subunit 6						cullin deneddylation|interspecies interaction between organisms	cytoplasm|signalosome	protein binding			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|prostate(1)|stomach(1)	12	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			GCACACAGATGTGAGTAATACTCC	0.49													-	99688281	GTGA	-	99688278	8	5	766	1	0	1	0	1	0	0	1	0	3768	1391	48	0	505	0	COPS6	7	99688278	Splice_Site	DEL	GTGA	TCGA-TQ-A7RN-01A-11D-A33T-08	35249091	99688278	59450385	22	57229											
FAM71F1	84691	broad.mit.edu	37	chr7	128370052	128370052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gtgggaaagagagaacccctCcggcctgcagcccctctcac	9	5	11	16	1	1	2	1	0	1	2	3	4	2	3	6	2	3	1	6	2	2	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:128370052C>T	ENST00000315184.5	+	6	1003	c.950C>T	c.(949-951)tCc>tTc	p.S317F	FAM71F1_ENST00000485070.1_Missense_Mutation_p.S216F	NM_001282788.1|NM_032599.2	NP_001269717.1|NP_115988.1	Q96KD3	F71F1_HUMAN	family with sequence similarity 71, member F1	317										NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	18						GAGAACCCCTCCGGCCTGCAG	0.592													T	128370052	C	T	128370052	3	4	766	1	0	0	0	0	1	0	0	0	5662	855	30	2	972	2	FAM71F1	7	128370052	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	28681774	128370052	30768611	23	57230											
TTC26	79989	broad.mit.edu	37	chr7	138832962	138832962	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctaatagggaataccttGcccttaatgtttatgtggcc	10	14	8	9	0	1	0	0	0	1	0	1	1	1	1	3	2	2	1	3	2	6	7			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:138832962G>A	ENST00000464848.1	+	7	636	c.556G>A	c.(556-558)Gcc>Acc	p.A186T	TTC26_ENST00000481482.1_3'UTR|TTC26_ENST00000343187.4_Missense_Mutation_p.A155T|TTC26_ENST00000474035.2_Missense_Mutation_p.A186T|TTC26_ENST00000430935.1_Missense_Mutation_p.A186T|TTC26_ENST00000478836.2_Intron|TTC26_ENST00000495038.1_Intron			A0AVF1	TTC26_HUMAN	tetratricopeptide repeat domain 26	186							binding			breast(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	24						GGAATACCTTGCCCTTAATGT	0.383													A	138832962	G	A	138832962	3	1	766	1	0	0	0	0	1	0	0	0	16796	1319	46	2	582	2	TTC26	7	138832962	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	10462910	138832962	20305701	24	57231											
TAS2R60	338398	broad.mit.edu	37	chr7	143140842	143140842	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcagtttctagctttccaGtgggacttcctgaatgctgc	6	14	10	11	0	1	1	0	1	1	0	3	2	3	2	2	1	4	4	2	1	2	4			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr7:143140842G>A	ENST00000332690.1	+	1	297	c.297G>A	c.(295-297)caG>caA	p.Q99Q	EPHA1-AS1_ENST00000429289.1_RNA	NM_177437.1	NP_803186.1	P59551	T2R60_HUMAN	taste receptor, type 2, member 60	99					sensory perception of bitter taste	integral to membrane	G-protein coupled receptor activity			breast(1)|kidney(1)|large_intestine(2)|lung(17)|prostate(1)|skin(7)|urinary_tract(2)	31	Melanoma(164;0.172)					TAGCTTTCCAGTGGGACTTCC	0.483													A	143140842	G	A	143140842	2	1	766	1	0	0	0	0	0	0	0	1	15682	1020	36	2		2	TAS2R60	7	143140842	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	4307880	143140842	15997821	25	57232											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-																															aaatctgggtcttcctactaAagaagaagaagaagatgatg																										TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				-	30945379	AAG	-	30945377	7	5	766	1	0	1	0	1	0	0	0	0	17504	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RN-01A-11D-A33T-08		30945377	115418645	26	57233											
RLN2	6019	broad.mit.edu	37	chr9	5304440	5304440	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgctccaggtgctcatgccGcaaatggcaatctgcgcgcg	7	9	12	13	4	2	0	1	0	1	0	3	0	3	0	2	2	4	4	2	2	2	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:5304440G>A	ENST00000381627.3	-	1	529	c.141C>T	c.(139-141)tgC>tgT	p.C47C	RLN2_ENST00000308420.3_Silent_p.C47C	NM_134441.2	NP_604390.1	P04090	REL2_HUMAN	relaxin 2	47					female pregnancy	extracellular region	hormone activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)	11	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0201)|Lung(218;0.0987)		TGCTCATGCCGCAAATGGCAA	0.552													A	5304440	G	A	5304440	2	1	766	1	0	0	0	0	0	0	0	1	13483	1079	38	1		1	RLN2	9	5304440	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		5304440	135908991	27	57234											
C5	727	broad.mit.edu	37	chr9	123732466	123732466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	accttcaatatcctgagtatCgattttcaaataaaagctgc	14	13	5	9	1	2	1	2	1	0	0	4	2	3	1	2	0	2	2	2	0	6	6			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr9:123732466C>T	ENST00000223642.1	-	32	4173	c.4144G>A	c.(4144-4146)Gat>Aat	p.D1382N		NM_001735.2	NP_001726.2	P01031	CO5_HUMAN	complement component 5	1382					activation of MAPK activity|chemotaxis|complement activation, alternative pathway|complement activation, classical pathway|cytolysis|G-protein coupled receptor protein signaling pathway|inflammatory response|negative regulation of macrophage chemotaxis|positive regulation of chemokine secretion|positive regulation vascular endothelial growth factor production	extracellular space|membrane attack complex	chemokine activity|endopeptidase inhibitor activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(14)|lung(5)|ovary(2)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	46				OV - Ovarian serous cystadenocarcinoma(323;4.98e-53)|GBM - Glioblastoma multiforme(294;0.0242)	Eculizumab(DB01257)	TCCTGAGTATCGATTTTCAAA	0.338													T	123732466	C	T	123732466	3	4	766	1	0	0	0	0	1	0	0	0	2302	884	31	1	926	1	C5	9	123732466	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	118428026	123732466	17480965	28	57235											
CCNY	219771	broad.mit.edu	37	chr10	35841995	35841995	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagagatagatatctgtccgGccaactggaagcggattgtt	11	10	12	8	2	1	2	0	0	1	2	2	5	2	4	2	3	2	1	2	3	4	4			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:35841995G>A	ENST00000374704.4	+	8	808	c.628G>A	c.(628-630)Gcc>Acc	p.A210T	CCNY_ENST00000339497.5_Missense_Mutation_p.A185T|CCNY_ENST00000265375.9_Missense_Mutation_p.A156T|CCNY_ENST00000374706.1_Missense_Mutation_p.A156T|CCNY_ENST00000492478.1_3'UTR	NM_145012.4	NP_659449.3	Q8ND76	CCNY_HUMAN	cyclin Y	210	Cyclin N-terminal.				cell division|G2/M transition of mitotic cell cycle|positive regulation of cyclin-dependent protein kinase activity|regulation of canonical Wnt receptor signaling pathway|Wnt receptor signaling pathway	cytoplasmic cyclin-dependent protein kinase holoenzyme complex|nucleus|plasma membrane	cyclin-dependent protein kinase regulator activity|protein kinase binding	p.A156T(1)		cervix(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	8						TATCTGTCCGGCCAACTGGAA	0.473													A	35841995	G	A	35841995	3	1	766	1	0	0	0	0	1	0	0	0	2966	1203	42	2	658	2	CCNY	10	35841995	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		35841995	99692752	29	57236											
ZMIZ1	57178	broad.mit.edu	37	chr10	81052021	81052021	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgctgcagcagcggcagtgGcagcagcagcagccacagct	9	3	14	15	2	0	0	0	0	0	0	0	0	0	0	2	2	8	9	2	2	0	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr10:81052021G>A	ENST00000334512.5	+	11	1437	c.865G>A	c.(865-867)Gca>Aca	p.A289T	ZMIZ1_ENST00000478357.1_3'UTR	NM_020338.3	NP_065071.1	Q9ULJ6	ZMIZ1_HUMAN	zinc finger, MIZ-type containing 1	289	Ala-rich.				transcription, DNA-dependent	cytoplasm|nuclear speck	zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(2)|prostate(3)|skin(1)	30	all_cancers(46;0.0292)|Breast(12;8.52e-05)|all_epithelial(25;0.000854)|Prostate(51;0.00985)		Epithelial(14;0.00256)|all cancers(16;0.00726)|Colorectal(32;0.229)			agcggcagtggcagcagcagc	0.652													A	81052021	G	A	81052021	3	1	766	1	0	0	0	0	1	0	0	0	17797	1203	42	2	891	2	ZMIZ1	10	81052021	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	45210026	81052021	54482726	30	57237											
OR5L1	219437	broad.mit.edu	37	chr11	55579457	55579457	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gatccccttctatagatctaAtgtgattaaccactttttct	10	17	4	10	0	3	2	0	1	3	1	4	3	4	2	3	0	1	0	3	0	4	7			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:55579457A>T	ENST00000333973.2	+	1	604	c.515A>T	c.(514-516)aAt>aTt	p.N172I		NM_001004738.1	NP_001004738.1	Q8NGL2	OR5L1_HUMAN	olfactory receptor, family 5, subfamily L, member 1	172					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(2)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(4)|liver(4)|lung(36)|ovary(2)|pancreas(1)|prostate(5)|skin(9)|stomach(4)|upper_aerodigestive_tract(3)	78		all_epithelial(135;0.208)				TATAGATCTAATGTGATTAAC	0.458													T	55579457	A	T	55579457	3	4	766	1	0	0	0	0	1	0	0	0	11246	101	4	5	517	5	OR5L1	11	55579457	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		55579457	79427059	31	57238											
LRP5	4041	broad.mit.edu	37	chr11	68153885	68153885	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctgcaggtggacgacatcCggcacgccattgccatcgac	8	7	12	14	4	0	0	0	0	0	0	2	3	1	1	3	3	3	3	3	3	0	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:68153885C>T	ENST00000294304.7	+	6	1223	c.1117C>T	c.(1117-1119)Cgg>Tgg	p.R373W		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	373	Beta-propeller 2.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GGACGACATCCGGCACGCCAT	0.657													T	68153885	C	T	68153885	3	4	766	1	0	0	0	0	1	0	0	0	9030	643	23	1	1139	1	LRP5	11	68153885	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	12574428	68153885	66852631	32	57239											
NPAT	4863	broad.mit.edu	37	chr11	108032484	108032484	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttttgatagcattattagaaGggggttttaaggtggaggac	11	14	14	2	0	0	2	0	1	0	1	0	4	0	4	0	5	1	2	0	5	5	7			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:108032484G>A	ENST00000278612.8	-	17	3434	c.3329C>T	c.(3328-3330)cCt>cTt	p.P1110L		NM_002519.2	NP_002510.2	Q14207	NPAT_HUMAN	nuclear protein, ataxia-telangiectasia locus	1110					positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	protein C-terminus binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(21)|ovary(2)|prostate(2)|skin(5)	46		all_cancers(61;2.31e-10)|all_epithelial(67;1.11e-06)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;1.05e-05)|Epithelial(105;3.01e-05)|all cancers(92;0.000816)|Colorectal(284;0.116)		ATTATTAGAAGGGGGTTTTAA	0.428													A	108032484	G	A	108032484	3	1	766	1	0	0	0	0	1	0	0	0	10642	1000	35	2	962	2	NPAT	11	108032484	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	39878599	108032484	26974032	33	57240											
ROBO3	64221	broad.mit.edu	37	chr11	124744124	124744124	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccccgtctctgagcctgtccGtacacagggtaaggtcagag	8	8	12	13	2	2	2	1	1	1	1	4	2	3	2	4	2	2	2	4	2	2	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:124744124G>A	ENST00000397801.1	+	12	2135	c.1943G>A	c.(1942-1944)cGt>cAt	p.R648H	ROBO3_ENST00000538940.1_Missense_Mutation_p.R626H	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	648					axon midline choice point recognition	integral to membrane	receptor activity			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		GAGCCTGTCCGTACACAGGGT	0.557													A	124744124	G	A	124744124	3	1	766	1	0	0	0	0	1	0	0	0	13606	1145	40	1	1989	1	ROBO3	11	124744124	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	16711640	124744124	10262392	34	57241											
SRPR	6734	broad.mit.edu	37	chr11	126135266	126135266	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatgtcccggagcatgtctAcacgacgctgtggctgcaga	8	9	13	11	3	1	2	0	1	1	1	2	4	2	3	1	2	3	4	1	2	1	1			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr11:126135266A>G	ENST00000332118.6	-	10	1362	c.1208T>C	c.(1207-1209)gTa>gCa	p.V403A	SRPR_ENST00000532259.1_Missense_Mutation_p.V375A	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	403					SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding			endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		GAGCATGTCTACACGACGCTG	0.572													G	126135266	A	G	126135266	3	3	766	1	0	0	0	0	1	0	0	0	15258	391	14	3	728	3	SRPR	11	126135266	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08	1391142	126135266	8871250	35	57242											
CHD4	1108	broad.mit.edu	37	chr12	6701634	6701634	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaacacatcggctttgAgccgccgcaacatgtgcggc	8	9	11	13	4	1	2	0	2	1	0	2	2	1	2	2	2	4	2	2	2	2	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr12:6701634A>C	ENST00000309577.6	-	19	3036	c.2873T>G	c.(2872-2874)cTc>cGc	p.L958R	CHD4_ENST00000544040.1_Missense_Mutation_p.L951R|CHD4_ENST00000544484.1_Missense_Mutation_p.L955R|CHD4_ENST00000357008.2_Missense_Mutation_p.L958R			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	958					chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	p.L958H(2)		central_nervous_system(2)	2						ATCGGCTTTGAGCCGCCGCAA	0.502													C	6701634	A	C	6701634	3	2	766	1	0	0	0	0	1	0	0	0	3357	304	11	5	2953	5	CHD4	12	6701634	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		6701634	127150261	36	57243											
COL4A2	1284	broad.mit.edu	37	chr13	111156557	111156557	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtgtgtctgctgttcccGgcttccggggagatgaagga	5	11	17	8	2	1	2	0	1	1	1	3	4	3	3	2	5	1	3	2	5	1	2			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr13:111156557G>A	ENST00000360467.5	+	45	4654	c.4348G>A	c.(4348-4350)Ggc>Agc	p.G1450S	COL4A2-AS1_ENST00000417970.2_RNA	NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1450	Triple-helical region.				angiogenesis|axon guidance|extracellular matrix organization|negative regulation of angiogenesis	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TGCTGTTCCCGGCTTCCGGGG	0.597													A	111156557	G	A	111156557	3	1	766	1	0	0	0	0	1	0	0	0	3721	1116	39	1	4522	1	COL4A2	13	111156557	Missense_Mutation	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08		111156557	4013321	37	57244											
TP53	7157	broad.mit.edu	37	chr17	7577107	7577107	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcgccggtctctcccaggAcaggcacaaacacgcacctc	9	5	10	17	3	1	0	0	0	1	0	4	1	2	1	3	3	2	2	3	3	1	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:7577107A>C	ENST00000420246.2	-	8	963	c.831T>G	c.(829-831)tgT>tgG	p.C277W	TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.C277W|TP53_ENST00000269305.4_Missense_Mutation_p.C277W|TP53_ENST00000359597.4_Missense_Mutation_p.C277W|TP53_ENST00000445888.2_Missense_Mutation_p.C277W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 an osteosarcoma 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.0?(8)|p.C277*(8)|p.C277C(4)|p.?(2)|p.P278fs*28(2)|p.C277W(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.F270_D281del12(1)|p.A276_C277delAC(1)|p.V274_P278del(1)|p.C277_P278insXXXXXXX(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		CTCTCCCAGGACAGGCACAAA	0.547		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)			C	7577107	A	C	7577107	3	2	766	1	0	0	0	0	1	0	0	0	16482	273	10	5	455	5	TP53	17	7577107	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		7577107	73618103	38	57245											
DNAH9	1770	broad.mit.edu	37	chr17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatctatttcattgatgAcatgaacatgcctgaggtgg	11	13	9	8	0	3	4	2	4	1	0	3	4	3	4	1	2	2	0	1	2	2	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCATTGATGACATGAACATG	0.547													G	11684410	A	G	11684410	3	3	766	1	0	0	0	0	1	0	0	0	4647	275	10	3	7791	3	DNAH9	17	11684410	Missense_Mutation	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08	4107303	11684410	69510800	39	57246											
CACNA1G	8913	broad.mit.edu	37	chr17	48677187	48677187	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cggcctgatgaccccccactGgatggggatgacgccgatga	8	6	14	13	3	0	4	0	4	0	0	0	7	0	6	5	4	0	0	5	4	0	0			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr17:48677187G>A	ENST00000352832.5	+	16	3960	c.3588G>A	c.(3586-3588)ctG>ctA	p.L1196L	CACNA1G_ENST00000514181.1_Silent_p.L1219L|CACNA1G_ENST00000502264.1_Silent_p.L1196L|CACNA1G_ENST00000354983.4_Silent_p.L1196L|CACNA1G_ENST00000514717.1_Silent_p.L1196L|CACNA1G_ENST00000503485.1_Silent_p.L1219L|CACNA1G_ENST00000510366.1_Silent_p.L1219L|CACNA1G_ENST00000358244.5_Silent_p.L1196L|CACNA1G_ENST00000360761.4_Silent_p.L1196L|CACNA1G_ENST00000429973.2_Silent_p.L1219L|CACNA1G_ENST00000505165.1_Silent_p.L1219L|CACNA1G_ENST00000513964.1_Silent_p.L1219L|CACNA1G_ENST00000507896.1_Silent_p.L1219L|CACNA1G_ENST00000416767.4_Silent_p.L1219L|CACNA1G_ENST00000507609.1_Silent_p.L1219L|CACNA1G_ENST00000515165.1_Silent_p.L1219L|CACNA1G_ENST00000512389.1_Silent_p.L1219L|CACNA1G_ENST00000515765.1_Silent_p.L1219L|CACNA1G_ENST00000513689.2_Silent_p.L1219L|CACNA1G_ENST00000442258.2_Silent_p.L1196L|CACNA1G_ENST00000514079.1_Silent_p.L1219L|CACNA1G_ENST00000515411.1_Silent_p.L1219L|CACNA1G_ENST00000359106.5_Silent_p.L1219L|CACNA1G_ENST00000507510.2_Silent_p.L1219L|CACNA1G_ENST00000510115.1_Silent_p.L1196L|CACNA1G_ENST00000507336.1_Silent_p.L1219L	NM_001256334.1|NM_198376.2|NM_198379.2|NM_198387.2|NM_198388.2	NP_001243263.1|NP_938190.1|NP_938193.1|NP_938201.1|NP_938202.1	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	1219					axon guidance	voltage-gated calcium channel complex	low voltage-gated calcium channel activity			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Ethosuximide(DB00593)|Flunarizine(DB04841)|Levetiracetam(DB01202)|Mibefradil(DB01388)|Pimozide(DB01100)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	ACCCCCCACTGGATGGGGATG	0.672													A	48677187	G	A	48677187	2	1	766	1	0	0	0	0	0	0	0	1	2570	1335	47	2		2	CACNA1G	17	48677187	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	36992777	48677187	32518023	40	57247											
BAGE2	85319	broad.mit.edu	37	chr21	11058447	11058450	+	RNA	DEL	AAAC	AAAC	-																															aatggaacctgcaaaatattAaacaaaggattcgttagaaa																										TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:11058447_11058450delAAAC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GCAAAATATTAAACAAAGGATTCG	0.294													-	11058450	AAAC	-	11058447	6	5	766	0	1	1	0	1	0	0	0	0	1297	377	13	0		0	BAGE2	21	11058447	RNA	DEL	AAAC	TCGA-TQ-A7RN-01A-11D-A33T-08		11058447	37071448	41	57248											
POTED	317754	broad.mit.edu	37	chr21	15013750	15013750	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccatgctaagactggaaCtagatgaaacaaaacatcag	17	8	8	8	0	1	3	1	1	0	2	1	4	1	4	1	1	5	1	1	1	6	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chr21:15013750C>A	ENST00000299443.5	+	11	1670	c.1618C>A	c.(1618-1620)Cta>Ata	p.L540I		NM_174981.3|NM_207355.2	NP_778146.2|NP_997238.2	Q86YR6	POTED_HUMAN	POTE ankyrin domain family, member D	540						plasma membrane				central_nervous_system(1)|large_intestine(10)|liver(2)|lung(8)|ovary(4)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	33						AAGACTGGAACTAGATGAAAC	0.368													A	15013750	C	A	15013750	3	1	766	1	0	0	0	0	1	0	0	0	12340	564	20	4	1660	4	POTED	21	15013750	Missense_Mutation	SNP	C	TCGA-TQ-A7RN-01A-11D-A33T-08	3955303	15013750	33116145	42	57249											
CNKSR2	22866	broad.mit.edu	37	chrX	21627189	21627189	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaggggctcctttctacagAtgagttgcgccagtccttat	7	13	10	11	1	2	2	1	1	1	1	4	2	4	2	3	2	2	2	3	2	2	4			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:21627189A>G	ENST00000425654.2	+	19	2536	c.2056A>G	c.(2056-2058)Atg>Gtg	p.M686V	CNKSR2_ENST00000543067.1_Splice_Site_p.M667V|CNKSR2_ENST00000279451.4_Splice_Site_p.M716V|CNKSR2_ENST00000379510.3_Splice_Site_p.M716V	NM_001168647.1	NP_001162118.1	Q8WXI2	CNKR2_HUMAN	connector enhancer of kinase suppressor of Ras 2	716					regulation of signal transduction	cytoplasm|membrane	protein binding			breast(3)|endometrium(8)|kidney(2)|large_intestine(15)|lung(28)|prostate(2)|upper_aerodigestive_tract(3)	61						CTTTCTACAGATGAGTTGCGC	0.453													G	21627189	A	G	21627189	5	3	766	1	0	0	0	0	0	0	1	0	3638	347	12	3	2224	3	CNKSR2	23	21627189	Splice_Site	SNP	A	TCGA-TQ-A7RN-01A-11D-A33T-08		21627189	133643371	43	57250											
HUWE1	10075	broad.mit.edu	37	chrX	53613509	53613509	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttttcatagaaatcaatcaGgagcaacactggtgtgatcc	13	11	8	9	0	3	2	3	1	0	1	4	3	4	3	1	2	2	1	1	2	4	3			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:53613509G>A	ENST00000342160.3	-	38	5222	c.4765C>T	c.(4765-4767)Ctg>Ttg	p.L1589L	HUWE1_ENST00000218328.8_Silent_p.L1589L|HUWE1_ENST00000262854.6_Silent_p.L1589L			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	1589					base-excision repair|cell differentiation|histone ubiquitination|protein monoubiquitination|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	DNA binding|protein binding|ubiquitin-protein ligase activity			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						AAATCAATCAGGAGCAACACT	0.383													A	53613509	G	A	53613509	2	1	766	1	0	0	0	0	0	0	0	1	7519	991	35	2		2	HUWE1	23	53613509	Silent	SNP	G	TCGA-TQ-A7RN-01A-11D-A33T-08	31986320	53613509	101657051	44	57251											
ZMAT1	84460	broad.mit.edu	37	chrX	101138798	101138798	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctgatgtttctgtttaTgacctgcttgatggtcagca	6	18	9	8	0	4	3	1	3	3	0	4	3	4	3	1	1	2	4	1	1	1	5			TCGA-TQ-A7RN-01A-11D-A33T-08	TCGA-TQ-A7RN-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	329cf5be-2d8c-4863-924b-48ea7f91a1f5	996f3527-e21e-498e-a938-8bb6f4ea35a7	g.chrX:101138798T>C	ENST00000372782.3	-	7	1648	c.1601A>G	c.(1600-1602)cAt>cGt	p.H534R	ZMAT1_ENST00000540921.1_Missense_Mutation_p.H534R|ZMAT1_ENST00000494068.1_5'UTR|ZMAT1_ENST00000458570.1_Missense_Mutation_p.H363R	NM_001011657.3	NP_001011657	A7MD47	A7MD47_HUMAN	zinc finger, matrin-type 1	363						nucleus	zinc ion binding			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						TTTCTGTTTATGACCTGCTTG	0.388													C	101138798	T	C	101138798	3	2	766	1	0	0	0	0	1	0	0	0	17792	1464	51	3	319	3	ZMAT1	23	101138798	Missense_Mutation	SNP	T	TCGA-TQ-A7RN-01A-11D-A33T-08	47525289	101138798	54131762	45	57252											
AQP10	89872	broad.mit.edu	37	chr1	154293680	154293680	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcatgggccacctccggataCgcagcctcctggcccggcag	6	6	12	17	3	1	0	1	0	0	0	3	1	3	1	6	4	2	2	6	4	1	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:154293680C>T	ENST00000484864.1	+	1	85	c.49C>T	c.(49-51)Cgc>Tgc	p.R17C	AQP10_ENST00000324978.3_Missense_Mutation_p.R17C|AQP10_ENST00000355197.4_3'UTR			Q96PS8	AQP10_HUMAN	aquaporin 10	17					response to toxin|transmembrane transport|water transport	integral to membrane|plasma membrane	transporter activity			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(14)|stomach(2)|upper_aerodigestive_tract(1)	23	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CCTCCGGATACGCAGCCTCCT	0.567													T	154293680	C	T	154293680	3	4	767	1	0	0	0	0	1	0	0	0	825	536	19	1	51	1	AQP10	1	154293680	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		154293680	94956941	1	57253											
ABCB10	23456	broad.mit.edu	37	chr1	229676423	229676423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttacatggtccactttgctgGcatatttctcgatttcagtc	7	17	7	10	1	2	0	1	0	1	0	5	1	3	0	1	2	2	2	1	2	2	5			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:229676423G>A	ENST00000344517.4	-	5	1175	c.1133C>T	c.(1132-1134)gCc>gTc	p.A378V		NM_012089.2	NP_036221.2	Q9NRK6	ABCBA_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 10	378	ABC transmembrane type-1.					integral to mitochondrial membrane|mitochondrial inner membrane	ATP binding|oligopeptide-transporting ATPase activity			breast(3)|endometrium(2)|kidney(1)|large_intestine(3)|lung(18)|prostate(2)|skin(2)	31	Breast(184;0.143)|Ovarian(103;0.249)	Prostate(94;0.167)				CACTTTGCTGGCATATTTCTC	0.403													A	229676423	G	A	229676423	3	1	767	1	0	0	0	0	1	0	0	0	41	1203	42	2	1119	2	ABCB10	1	229676423	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	75382743	229676423	19574198	2	57254											
C1orf101	257044	broad.mit.edu	37	chr1	244756809	244756809	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttccttttctagagagtaagGtatatttggggagaatatgg	11	15	12	3	0	1	2	0	0	1	2	2	4	2	2	1	4	0	2	1	4	6	9			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:244756809G>A	ENST00000366534.4	+	17	2286	c.2232G>A	c.(2230-2232)agG>agA	p.R744R	C1orf101_ENST00000473875.1_3'UTR|C1orf101_ENST00000366533.4_Silent_p.R744R|C1orf101_ENST00000366531.3_Silent_p.R593R	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	744						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			AGAGAGTAAGGTATATTTGGG	0.348													A	244756809	G	A	244756809	2	1	767	1	0	0	0	0	0	0	0	1	1996	1252	44	2		2	C1orf101	1	244756809	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	15080386	244756809	4493812	3	57255											
OR2L2	26246	broad.mit.edu	37	chr1	248202246	248202246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttctccttgctgtctaccGcatgcactctgcagaaggga	7	11	11	12	1	3	1	0	0	3	1	4	2	3	2	2	2	4	5	2	2	2	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr1:248202246G>A	ENST00000366479.2	+	1	773	c.677G>A	c.(676-678)cGc>cAc	p.R226H	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	226					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.R226L(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			GCTGTCTACCGCATGCACTCT	0.483													A	248202246	G	A	248202246	3	1	767	1	0	0	0	0	1	0	0	0	11083	1087	38	1	679	1	OR2L2	1	248202246	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	3445437	248202246	1048375	4	57256											
CCDC108	255101	broad.mit.edu	37	chr2	219878294	219878294	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgggaggtgatcagtacCgatgaacaggtggctagaaa	13	7	14	7	1	1	3	1	2	0	1	1	5	1	4	1	4	2	2	1	4	4	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr2:219878294C>T	ENST00000341552.5	-	23	3876	c.3793G>A	c.(3793-3795)Ggt>Agt	p.G1265S	CCDC108_ENST00000453220.1_Missense_Mutation_p.G1265S|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000441968.1_Missense_Mutation_p.G1265S	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1265						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TGATCAGTACCGATGAACAGG	0.542													T	219878294	C	T	219878294	3	4	767	1	0	0	0	0	1	0	0	0	2769	652	23	1	2036	1	CCDC108	2	219878294	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		219878294	23321079	5	57257											
ITIH4	3700	broad.mit.edu	37	chr3	52860815	52860815	+	Frame_Shift_Del	DEL	G	G	-																															agcagcaggtacctgcaggtGcttgaccagctgctggggcc																										TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:52860815delG	ENST00000266041.4	-	4	607	c.511delC	c.(511-513)cacfs	p.H171fs	RP5-966M1.6_ENST00000468472.1_3'UTR|ITIH4_ENST00000406595.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000485816.1_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000346281.5_Frame_Shift_Del_p.H171fs|ITIH4_ENST00000434759.3_Frame_Shift_Del_p.H83fs	NM_002218.4	NP_002209.2	Q14624	ITIH4_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 4	171					acute-phase response|hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|large_intestine(3)|lung(9)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	30				BRCA - Breast invasive adenocarcinoma(193;7e-05)|Kidney(197;0.000656)|KIRC - Kidney renal clear cell carcinoma(197;0.000794)|OV - Ovarian serous cystadenocarcinoma(275;0.0496)		ACCTGCAGGTGCTTGACCAGC	0.622													-	52860815	G	-	52860815	7	5	767	1	0	1	0	1	0	0	0	0	7964	1319	46	0	2365	0	ITIH4	3	52860815	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RO-01A-11D-A33T-08		52860815	145161615	6	57258											
PRR23A	729627	broad.mit.edu	37	chr3	138724449	138724449	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggggacaggctccagaaggCggaattccgggtcgaagaag	11	5	17	8	3	0	2	0	0	0	2	3	5	2	4	2	6	0	1	2	6	4	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:138724449C>T	ENST00000383163.2	-	1	661	c.662G>A	c.(661-663)cGc>cAc	p.R221H		NM_001134659.1	NP_001128131.1	A6NEV1	PR23A_HUMAN	proline rich 23A	221	Pro-rich.									endometrium(3)|kidney(1)|lung(7)	11						CTCCAGAAGGCGGAATTCCGG	0.682													T	138724449	C	T	138724449	3	4	767	1	0	0	0	0	1	0	0	0	12680	768	27	1	142	1	PRR23A	3	138724449	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	85863634	138724449	59297981	7	57259											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	767	1	0	0	0	0	1	0	0	0	11990	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08	40227636	178952085	19070345	8	57260											
PDE4D	5144	broad.mit.edu	37	chr5	59284439	59284439	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	caactgtctgaaggcgagagGgggaagctgaatattgcgac	12	7	15	7	2	1	3	0	2	1	1	1	6	1	4	0	3	3	1	0	3	5	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:59284439G>A	ENST00000502484.2	-	3	371	c.148C>T	c.(148-150)Cct>Tct	p.P50S	PDE4D_ENST00000546160.1_Missense_Mutation_p.P50S	NM_001165899.1	NP_001159371.1	Q08499	PDE4D_HUMAN	phosphodiesterase 4D, cAMP-specific	0	Pro-rich.				signal transduction	cytosol|insoluble fraction|membrane|microtubule organizing center|soluble fraction	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|pancreas(1)	15		all_cancers(5;6.5e-58)|all_epithelial(5;1.75e-57)|all_lung(5;6.84e-18)|Lung NSC(5;1.29e-17)|Melanoma(5;0.00168)|Prostate(74;0.00234)|Colorectal(97;0.00629)|Ovarian(174;0.00832)|Breast(144;0.00996)|all_hematologic(6;0.0344)|Hepatocellular(6;0.0742)|Esophageal squamous(6;0.0954)		Epithelial(2;2.6e-55)|all cancers(2;2.66e-49)|OV - Ovarian serous cystadenocarcinoma(10;1.48e-39)|Colorectal(2;8.29e-08)|Lung(2;4.47e-07)|STAD - Stomach adenocarcinoma(2;1.11e-05)|COAD - Colon adenocarcinoma(2;0.00012)|LUSC - Lung squamous cell carcinoma(2;0.000775)|LUAD - Lung adenocarcinoma(3;0.0173)|READ - Rectum adenocarcinoma(2;0.0276)	Adenosine monophosphate(DB00131)|Dyphylline(DB00651)	AAGGCGAGAGGGGGAAGCTGA	0.488													A	59284439	G	A	59284439	3	1	767	1	0	0	0	0	1	0	0	0	11718	1232	43	2	2668	2	PDE4D	5	59284439	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		59284439	121630821	9	57261											
TRIM23	373	broad.mit.edu	37	chr5	64892881	64892881	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaatattcatacttaccaaTtgttggaatgggctgcatga	12	13	8	8	0	1	1	1	1	0	0	1	2	1	2	2	2	3	3	2	2	6	6			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:64892881T>C	ENST00000231524.9	-	8	1677	c.1306A>G	c.(1306-1308)Att>Gtt	p.I436V	TRIM23_ENST00000381018.3_Missense_Mutation_p.I436V|TRIM23_ENST00000274327.7_Missense_Mutation_p.I436V	NM_001656.3	NP_001647.1	P36406	TRI23_HUMAN	tripartite motif containing 23	436	ARF-like.				interspecies interaction between organisms|small GTPase mediated signal transduction	Golgi membrane|lysosomal membrane	enzyme activator activity|GDP binding|GTP binding|GTPase activity|protein binding|ubiquitin-protein ligase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	28		Lung NSC(167;3.24e-06)|Prostate(74;0.0138)|Breast(144;0.0433)|Ovarian(174;0.0545)|Colorectal(97;0.234)		Lung(70;0.00473)		TACTTACCAATTGTTGGAATG	0.388													C	64892881	T	C	64892881	3	2	767	1	0	0	0	0	1	0	0	0	16598	1493	52	3	501	3	TRIM23	5	64892881	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08	5608442	64892881	116022379	10	57262											
MCTP1	79772	broad.mit.edu	37	chr5	94248550	94248550	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgcccaagccggaacttcacGtagggatcgctcaacccgtt	9	8	10	14	4	2	0	2	0	0	0	3	2	2	2	3	2	4	3	3	2	4	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:94248550G>A	ENST00000515393.1	-	9	1481	c.1482C>T	c.(1480-1482)taC>taT	p.Y494Y	MCTP1_ENST00000312216.8_Silent_p.Y273Y|MCTP1_ENST00000505208.1_Silent_p.Y273Y|MCTP1_ENST00000505078.1_Silent_p.Y10Y|MCTP1_ENST00000429576.2_Silent_p.Y227Y	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	494	C2 2.				calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		GGAACTTCACGTAGGGATCGC	0.468													A	94248550	G	A	94248550	2	1	767	1	0	0	0	0	0	0	0	1	9475	1140	40	1		1	MCTP1	5	94248550	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	29355669	94248550	86666710	11	57263											
PCDHA2	56146	broad.mit.edu	37	chr5	140176258	140176258	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcactgttggcgcctagggCtggcaccgctgctggcgcag	4	7	17	13	3	0	0	0	0	0	0	0	0	0	0	2	5	1	7	2	5	1	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr5:140176258C>T	ENST00000526136.1	+	1	1709	c.1709C>T	c.(1708-1710)gCt>gTt	p.A570V	PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000378132.1_Missense_Mutation_p.A570V|PCDHA2_ENST00000520672.2_Missense_Mutation_p.A570V	NM_018905.2	NP_061728.1														NS(1)|breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(16)|lung(26)|ovary(4)|prostate(6)|skin(2)|upper_aerodigestive_tract(1)	71			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCCTAGGGCTGGCACCGCT	0.697													T	140176258	C	T	140176258	3	4	767	1	0	0	0	0	1	0	0	0	11600	797	28	2	1711	2	PCDHA2	5	140176258	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	45927708	140176258	40739002	12	57264											
SSPO	23145	broad.mit.edu	37	chr7	149485858	149485858	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcacgtgccaggaaggtcaAtggcattgtgggggtgacgg	9	7	18	7	2	1	1	1	1	0	0	1	2	1	2	1	6	2	2	1	6	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr7:149485858A>G	ENST00000378016.2	+	0	4077							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion	extracellular space	peptidase inhibitor activity					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AGGAAGGTCAATGGCATTGTG	0.622													G	149485858	A	G	149485858	1	3	767	0	1	0	0	0	0	0	0	0	15285	98	4	3		3	SSPO	7	149485858	RNA	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08		149485858	9652805	13	57265											
WRN	7486	broad.mit.edu	37	chr8	30946435	30946435	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggccagcacccaatgaagagCaagttacttgcctcaagatg	13	7	10	11	0	1	3	1	1	0	2	1	3	1	3	3	1	4	3	3	1	5	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:30946435C>G	ENST00000298139.5	+	13	1855	c.1606C>G	c.(1606-1608)Caa>Gaa	p.Q536E		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	536					base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAATGAAGAGCAAGTTACTTG	0.328			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				G	30946435	C	G	30946435	3	3	767	1	0	0	0	0	1	0	0	0	17504	711	25	4	1652	4	WRN	8	30946435	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		30946435	115417587	14	57266											
TRPA1	8989	broad.mit.edu	37	chr8	72968063	72968063	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acacccatcgttgtcttcatCcattaccagctctttgatct	8	15	4	14	1	4	1	1	1	3	0	6	1	5	1	3	0	2	2	3	0	1	4			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:72968063C>T	ENST00000262209.4	-	11	1429	c.1222G>A	c.(1222-1224)Gat>Aat	p.D408N	RP11-383H13.1_ENST00000457356.4_3'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	408						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TTGTCTTCATCCATTACCAGC	0.368													T	72968063	C	T	72968063	3	4	767	1	0	0	0	0	1	0	0	0	16678	855	30	2	2205	2	TRPA1	8	72968063	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	42021628	72968063	73395959	15	57267											
GML	2765	broad.mit.edu	37	chr8	143928001	143928001	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgaaagggacatgttaccCgatgaagtaactgaggagga	14	8	13	6	1	0	3	0	3	0	0	0	7	0	6	1	3	2	2	1	3	4	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr8:143928001C>T	ENST00000220940.1	+	4	462	c.372C>T	c.(370-372)ccC>ccT	p.P124P		NM_002066.2	NP_002057.1	Q99445	GML_HUMAN	glycosylphosphatidylinositol anchored molecule like	124	UPAR/Ly6.				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|negative regulation of cell proliferation	anchored to membrane|extrinsic to membrane|plasma membrane		p.P124P(1)		NS(1)|central_nervous_system(2)|endometrium(1)|large_intestine(6)|lung(8)	18	all_cancers(97;4.26e-11)|all_epithelial(106;1.85e-08)|Lung NSC(106;0.000274)|all_lung(105;0.000755)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					ACATGTTACCCGATGAAGTAA	0.418													T	143928001	C	T	143928001	2	4	767	1	0	0	0	0	0	0	0	1	6548	639	23	1		1	GML	8	143928001	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	70959938	143928001	2436021	16	57268											
MLLT3	4300	broad.mit.edu	37	chr9	20414313	20414313	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgctactgctgctgctactGctgctgctgctgctgctgct	2	14	11	14	0	0	0	0	0	0	0	0	0	0	0	0	0	13	11	0	0	2	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:20414313G>A	ENST00000380338.4	-	5	817	c.531C>T	c.(529-531)agC>agT	p.S177S	MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000429426.2_Silent_p.S174S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	177	Poly-Ser.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding			central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL								A	20414313	G	A	20414313	2	1	767	1	0	0	0	0	0	0	0	1	9703	1310	46	2		2	MLLT3	9	20414313	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		20414313	120799118	17	57269											
TLN1	7094	broad.mit.edu	37	chr9	35720836	35720836	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggatgatatcgatgtagccGgcaatgagctgtgcaatctg	11	10	13	7	2	1	2	0	2	1	0	2	4	1	3	1	2	3	4	1	2	4	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr9:35720836G>A	ENST00000314888.9	-	11	1532	c.1179C>T	c.(1177-1179)gcC>gcT	p.A393A	TLN1_ENST00000540444.1_Silent_p.A393A	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	393	FERM.|Interaction with LAYN (By similarity).				axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CGATGTAGCCGGCAATGAGCT	0.507													A	35720836	G	A	35720836	2	1	767	1	0	0	0	0	0	0	0	1	16047	1103	39	1		1	TLN1	9	35720836	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	15306523	35720836	105492595	18	57270											
PHYH	5264	broad.mit.edu	37	chr10	13337514	13337514	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	accgaaagcgttgaatatcgGcatcaggtacaagatttttg	13	11	10	7	3	1	2	1	1	0	1	2	3	1	2	1	2	2	3	1	2	5	5	rs141855372	byFrequency	TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:13337514G>A	ENST00000396920.3	-	3	574	c.170C>T	c.(169-171)gCc>gTc	p.A57V	PHYH_ENST00000396913.2_5'UTR|PHYH_ENST00000263038.4_Missense_Mutation_p.A76V			O14832	PAHX_HUMAN	phytanoyl-CoA 2-hydroxylase	76					fatty acid alpha-oxidation|nervous system development	peroxisomal matrix	electron carrier activity|L-ascorbic acid binding|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|phytanoyl-CoA dioxygenase activity|protein binding			NS(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(10)|pancreas(1)|prostate(2)	25		Ovarian(717;0.0448)			Antihemophilic Factor(DB00025)|Vitamin C(DB00126)	TTGAATATCGGCATCAGGTAC	0.353													A	13337514	G	A	13337514	3	1	767	1	0	0	0	0	1	0	0	0	11941	1203	42	2	817	2	PHYH	10	13337514	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		13337514	122197233	19	57271											
FGFBP3	143282	broad.mit.edu	37	chr10	93668353	93668353	+	Frame_Shift_Del	DEL	T	T	-																															cctggagcggcgcggggtcgTgacagggcctccgcttcttg																										TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr10:93668353delT	ENST00000311575.5	-	2	537	c.374delA	c.(373-375)cacfs	p.H125fs	RP11-402D21.2_ENST00000610263.1_RNA	NM_152429.4	NP_689642.3	Q8TAT2	FGFP3_HUMAN	fibroblast growth factor binding protein 3	125					positive regulation of fibroblast growth factor receptor signaling pathway|positive regulation of vascular permeability	extracellular region	fibroblast growth factor binding|heparin binding			large_intestine(1)|prostate(1)	2		Colorectal(252;0.162)				CGCGGGGTCGTGACAGGGCCT	0.761													-	93668353	T	-	93668353	7	5	767	1	0	1	0	1	0	0	0	0	5911	1696	59	0	406	0	FGFBP3	10	93668353	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RO-01A-11D-A33T-08	80330839	93668353	41866394	20	57272											
HPX	3263	broad.mit.edu	37	chr11	6452914	6452914	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gacccagggcagataaaggcCgcatccacagagtccaggat	13	4	12	12	1	0	2	0	0	0	2	2	4	2	3	4	3	0	2	4	3	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:6452914C>T	ENST00000265983.3	-	9	1186	c.1086G>A	c.(1084-1086)gcG>gcA	p.A362A		NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	362					cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGATAAAGGCCGCATCCACAG	0.557													T	6452914	C	T	6452914	2	4	767	1	0	0	0	0	0	0	0	1	7401	639	23	1		1	HPX	11	6452914	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		6452914	128553602	21	57273											
USH1C	10083	broad.mit.edu	37	chr11	17531148	17531148	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacccatggagaggatgaggCgctcacatggccagataagg	12	5	14	10	1	1	3	1	1	0	2	1	5	1	4	2	5	0	1	2	5	1	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:17531148C>T	ENST00000005226.7	-	18	1767	c.1768G>A	c.(1768-1770)Gcc>Acc	p.A590T	USH1C_ENST00000527720.1_Intron|USH1C_ENST00000318024.4_Intron|USH1C_ENST00000529563.1_Intron|USH1C_ENST00000527020.1_Intron	NM_153676.3	NP_710142.1	Q9Y6N9	USH1C_HUMAN	Usher syndrome 1C (autosomal recessive, severe)	0					equilibrioception|G2/M transition of mitotic cell cycle|photoreceptor cell maintenance|sensory perception of sound	apical part of cell|cytoplasm|stereocilium	protein binding			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	48						GAGGATGAGGCGCTCACATGG	0.672													T	17531148	C	T	17531148	3	4	767	1	0	0	0	0	1	0	0	0	17136	768	27	1	971	1	USH1C	11	17531148	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	11078234	17531148	117475368	22	57274											
OR9Q1	219956	broad.mit.edu	37	chr11	57947747	57947747	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cgggtagtgtctgtgctttaCacagaggtcatccccatgtt	7	13	11	10	1	2	1	1	0	1	1	3	1	3	1	2	2	2	3	2	2	2	4			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:57947747C>T	ENST00000335397.3	+	3	1147	c.831C>T	c.(829-831)taC>taT	p.Y277Y		NM_001005212.3	NP_001005212.1	Q8NGQ5	OR9Q1_HUMAN	olfactory receptor, family 9, subfamily Q, member 1	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|liver(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	26		Breast(21;0.222)				CTGTGCTTTACACAGAGGTCA	0.468													T	57947747	C	T	57947747	2	4	767	1	0	0	0	0	0	0	0	1	11331	489	17	2		2	OR9Q1	11	57947747	Silent	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	40416599	57947747	77058769	23	57275											
FOLR4	390243	broad.mit.edu	37	chr11	94038918	94038918	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacaagagagtgcccagccCagaagacaagctctatgagg	14	4	11	12	0	1	4	0	1	1	3	1	5	1	4	3	1	3	1	3	1	4	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:94038918C>T	ENST00000440961.2	+	1	160	c.116C>T	c.(115-117)cCa>cTa	p.P39L		NM_001199206.1	NP_001186135.1	A6ND01	FOLR4_HUMAN	folate receptor 4, delta (putative)	39						extracellular region	folic acid binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						GTGCCCAGCCCAGAAGACAAG	0.567													T	94038918	C	T	94038918	3	4	767	1	0	0	0	0	1	0	0	0	6033	594	21	2	118	2	FOLR4	11	94038918	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	36091171	94038918	40967598	24	57276											
PRDM10	56980	broad.mit.edu	37	chr11	129812402	129812402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tggtaagccaccaggttctgCtccaggtgattctgggctgg	6	11	14	10	0	2	1	0	1	2	0	3	1	3	1	3	5	2	4	3	5	1	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr11:129812402C>A	ENST00000358825.5	-	7	1116	c.885G>T	c.(883-885)gaG>gaT	p.E295D	PRDM10_ENST00000528746.1_Missense_Mutation_p.E269D|PRDM10_ENST00000304538.6_Missense_Mutation_p.E209D|PRDM10_ENST00000526082.1_Missense_Mutation_p.E209D|PRDM10_ENST00000423662.2_Missense_Mutation_p.E209D|PRDM10_ENST00000360871.3_Missense_Mutation_p.E295D	NM_020228.2	NP_064613.2	Q9NQV6	PRD10_HUMAN	PR domain containing 10	295	SET.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(14)|lung(15)|pancreas(2)|skin(1)|stomach(3)|urinary_tract(2)	48	all_hematologic(175;0.0537)	Breast(109;0.000496)|Lung NSC(97;0.000693)|all_lung(97;0.00151)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0174)|Lung(977;0.176)|LUSC - Lung squamous cell carcinoma(976;0.185)		CCAGGTTCTGCTCCAGGTGAT	0.473													A	129812402	C	A	129812402	3	1	767	1	0	0	0	0	1	0	0	0	12537	796	28	4	2661	4	PRDM10	11	129812402	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	35773484	129812402	5194114	25	57277											
MED13L	23389	broad.mit.edu	37	chr12	116435002	116435002	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatgctgttccaaagatggtGgagtgggaaacatcctttgc	10	11	13	7	0	0	1	0	0	0	1	2	4	2	3	2	3	3	2	2	3	2	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr12:116435002G>A	ENST00000281928.3	-	15	2809	c.2603C>T	c.(2602-2604)cCa>cTa	p.P868L		NM_015335.4	NP_056150.1	Q71F56	MD13L_HUMAN	mediator complex subunit 13-like	868					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent					NS(2)|breast(1)|endometrium(9)|kidney(3)|large_intestine(18)|lung(34)|ovary(4)|prostate(4)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	85	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0407)		CAAAGATGGTGGAGTGGGAAA	0.398													A	116435002	G	A	116435002	3	1	767	1	0	0	0	0	1	0	0	0	9506	1348	47	2	4097	2	MED13L	12	116435002	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		116435002	17416893	26	57278											
DCT	1638	broad.mit.edu	37	chr13	95121241	95121241	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actggtggtttcttccgctcGcagttgggaccggtccagcc	4	11	13	13	3	1	0	0	0	1	0	4	1	3	1	4	4	1	4	4	4	0	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr13:95121241G>A	ENST00000377028.5	-	2	767	c.354C>T	c.(352-354)tgC>tgT	p.C118C	DCT_ENST00000446125.1_Silent_p.C118C	NM_001922.3	NP_001913.2	P40126	TYRP2_HUMAN	dopachrome tautomerase	118					epidermis development|melanin biosynthetic process from tyrosine	cytosol|integral to membrane|melanosome membrane|microsome	copper ion binding|dopachrome isomerase activity|oxidoreductase activity			NS(1)|breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	50	all_neural(89;0.0684)|Medulloblastoma(90;0.163)	all_cancers(2;3.71e-42)|all_epithelial(2;3.76e-31)|all_lung(2;5.16e-14)|Lung NSC(4;1.33e-13)|Breast(118;0.0013)|Hepatocellular(115;0.00886)|Renal(2;0.00988)		COAD - Colon adenocarcinoma(199;7.07e-05)|GBM - Glioblastoma multiforme(99;0.000472)		TCTTCCGCTCGCAGTTGGGAC	0.498													A	95121241	G	A	95121241	2	1	767	1	0	0	0	0	0	0	0	1	4338	1079	38	1		1	DCT	13	95121241	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		95121241	20048637	27	57279											
DISP2	85455	broad.mit.edu	37	chr15	40655853	40655853	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	accaaggctgtgccccctgaGgcaagcccagagagaagctg	11	4	13	13	0	0	3	0	1	0	2	0	4	0	3	4	2	3	3	4	2	3	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:40655853G>A	ENST00000267889.3	+	2	234	c.147G>A	c.(145-147)gaG>gaA	p.E49E		NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	49					smoothened signaling pathway	integral to membrane				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		TGCCCCCTGAGGCAAGCCCAG	0.622													A	40655853	G	A	40655853	2	1	767	1	0	0	0	0	0	0	0	1	4579	991	35	2		2	DISP2	15	40655853	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		40655853	61875539	28	57280											
IDH2	3418	broad.mit.edu	37	chr15	90631838	90631838	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctggtcgccatgggcgtgcCtgccaatggtgatgggcttg	4	10	16	11	2	0	1	0	1	0	0	1	1	0	1	4	4	2	1	4	4	1	1	rs121913503		TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr15:90631838C>T	ENST00000330062.3	-	4	628	c.515G>A	c.(514-516)aGg>aAg	p.R172K	IDH2_ENST00000559482.1_Intron|IDH2_ENST00000539790.1_Missense_Mutation_p.R42K|IDH2_ENST00000540499.2_Missense_Mutation_p.R120K	NM_002168.2	NP_002159.2	P48735	IDHP_HUMAN	isocitrate dehydrogenase 2 (NADP+), mitochondrial	172					2-oxoglutarate metabolic process|glyoxylate cycle|isocitrate metabolic process|tricarboxylic acid cycle	mitochondrial matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding	p.R172K(116)|p.R172M(21)|p.R172N(1)		biliary_tract(11)|bone(19)|central_nervous_system(107)|endometrium(1)|haematopoietic_and_lymphoid_tissue(953)|large_intestine(8)|lung(5)|skin(5)	1109	Melanoma(11;0.00551)|Lung NSC(78;0.0196)|all_lung(78;0.04)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.106)			ATGGGCGTGCCTGCCAATGGT	0.632			M		GBM								T	90631838	C	T	90631838	3	4	767	1	0	0	0	0	1	0	0	0	7553	681	24	2	875	2	IDH2	15	90631838	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	49975985	90631838	11899554	29	57281											
MLST8	64223	broad.mit.edu	37	chr16	2258498	2258498	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgtgcaagatctggaggaCgtccaacttctccctgatga	10	9	11	11	2	2	3	0	2	2	1	4	6	3	5	2	2	2	1	2	2	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:2258498C>T	ENST00000569417.1	+	8	1100	c.746C>T	c.(745-747)aCg>aTg	p.T249M	MLST8_ENST00000564088.1_Missense_Mutation_p.T249M|MLST8_ENST00000382450.4_Missense_Mutation_p.T248M|MLST8_ENST00000565250.1_Missense_Mutation_p.T249M|MLST8_ENST00000397124.1_Missense_Mutation_p.T249M|MLST8_ENST00000301725.7_3'UTR|MLST8_ENST00000301724.10_Missense_Mutation_p.T249M	NM_022372.4	NP_071767.3	Q9BVC4	LST8_HUMAN	MTOR associated protein, LST8 homolog (S. cerevisiae)	249					insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of TOR signaling cascade|T cell costimulation	cytosol	protein binding			large_intestine(3)|lung(2)|skin(1)	6						ATCTGGAGGACGTCCAACTTC	0.662													T	2258498	C	T	2258498	3	4	767	1	0	0	0	0	1	0	0	0	9709	536	19	1	772	1	MLST8	16	2258498	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		2258498	88096255	30	57282											
SLC5A11	115584	broad.mit.edu	37	chr16	24918463	24918463	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggaatcacctccggcctcGggcatctgagaaggagctca	9	7	12	13	2	3	1	2	1	1	1	5	4	4	3	3	4	1	2	3	4	2	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr16:24918463G>A	ENST00000347898.3	+	12	1854	c.1232G>A	c.(1231-1233)cGg>cAg	p.R411Q	SLC5A11_ENST00000424767.2_Missense_Mutation_p.R376Q|SLC5A11_ENST00000449109.2_Missense_Mutation_p.R255Q|SLC5A11_ENST00000565769.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000545376.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000539472.1_Missense_Mutation_p.R347Q|SLC5A11_ENST00000568579.1_Missense_Mutation_p.R341Q|SLC5A11_ENST00000567758.1_Missense_Mutation_p.R376Q|SLC5A11_ENST00000569071.1_Missense_Mutation_p.R255Q	NM_052944.3	NP_443176.2	Q8WWX8	SC5AB_HUMAN	solute carrier family 5 (sodium/inositol cotransporter), member 11	411					apoptosis|carbohydrate transport|sodium ion transport	integral to membrane|plasma membrane	polyol transmembrane transporter activity|symporter activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(30)|ovary(2)|prostate(2)|urinary_tract(1)	49				GBM - Glioblastoma multiforme(48;0.0365)		CTCCGGCCTCGGGCATCTGAG	0.597													A	24918463	G	A	24918463	3	1	767	1	0	0	0	0	1	0	0	0	14757	1116	39	1	1274	1	SLC5A11	16	24918463	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	22659965	24918463	65436290	31	57283											
KRT20	54474	broad.mit.edu	37	chr17	39041252	39041252	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgccaacaaacaggtccccGccgcctgtgagatcgctccc	8	7	9	17	3	0	1	0	1	0	1	3	2	2	1	6	1	3	1	6	1	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:39041252G>A	ENST00000167588.3	-	1	227	c.186C>T	c.(184-186)ggC>ggT	p.G62G		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	62	Head.				apoptosis|intermediate filament organization	Golgi apparatus|intermediate filament	protein binding|structural constituent of cytoskeleton			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				ACAGGTCCCCGCCGCCTGTGA	0.577													A	39041252	G	A	39041252	2	1	767	1	0	0	0	0	0	0	0	1	8516	1074	38	1		1	KRT20	17	39041252	Silent	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		39041252	42153958	32	57284											
UNK	85451	broad.mit.edu	37	chr17	73814838	73814838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gggcaccagcagcgtccccgGcatgaatgcaaacgctctgc	9	5	12	15	3	1	1	0	1	1	0	2	1	2	1	3	2	5	5	3	2	2	0			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr17:73814838G>A	ENST00000293218.3	+	12	1715	c.1715G>A	c.(1714-1716)gGc>gAc	p.G572D	UNK_ENST00000589666.1_Missense_Mutation_p.G496D			Q9C0B0	UNK_HUMAN	unkempt family zinc finger	496							nucleic acid binding|zinc ion binding			cervix(3)|endometrium(8)|kidney(2)|large_intestine(5)|lung(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	25			all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			AGCGTCCCCGGCATGAATGCA	0.597													A	73814838	G	A	73814838	3	1	767	1	0	0	0	0	1	0	0	0	17102	1203	42	2	1761	2	UNK	17	73814838	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	34773586	73814838	7380372	33	57285											
ARHGAP33	115703	broad.mit.edu	37	chr19	36271878	36271878	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccgcaccttcatgcgctccCgcccttctcggcagcggctg	3	9	10	19	5	2	0	1	0	1	0	5	0	4	0	4	2	2	4	4	2	0	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:36271878C>T	ENST00000007510.4	+	11	1030	c.886C>T	c.(886-888)Cgc>Tgc	p.R296C	ARHGAP33_ENST00000378944.5_Missense_Mutation_p.R160C|ARHGAP33_ENST00000314737.5_Missense_Mutation_p.R296C			O14559	RHG33_HUMAN	Rho GTPase activating protein 33	296					cell communication|protein transport|signal transduction	intracellular	GTPase activator activity|phosphatidylinositol binding|protein binding			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						CATGCGCTCCCGCCCTTCTCG	0.667													T	36271878	C	T	36271878	3	4	767	1	0	0	0	0	1	0	0	0	885	652	23	1	928	1	ARHGAP33	19	36271878	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08		36271878	22857105	34	57286											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	10	6	13	12	2	1	2	1	1	0	1	2	4	2	3	4	4	1	0	4	4	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								T	42791718	C	T	42791718	3	4	767	1	0	0	0	0	1	0	0	0	3454	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-TQ-A7RO-01A-11D-A33T-08	6519840	42791718	16337265	35	57287											
AURKA	6790	broad.mit.edu	37	chr20	54945296	54945296	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgatccaggggtgttcaagtActtctctgagcattggcctc	7	13	11	10	0	2	2	1	2	1	0	5	2	3	2	2	3	2	3	2	3	2	4			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr20:54945296A>T	ENST00000395909.4	-	11	1695	c.1130T>A	c.(1129-1131)gTa>gAa	p.V377E	AURKA_ENST00000395915.3_Missense_Mutation_p.V377E|AURKA_ENST00000371356.2_Missense_Mutation_p.V377E|AURKA_ENST00000395911.1_Missense_Mutation_p.V377E|AURKA_ENST00000395914.1_Missense_Mutation_p.V377E|AURKA_ENST00000395913.3_Missense_Mutation_p.V377E|AURKA_ENST00000347343.2_Missense_Mutation_p.V377E|AURKA_ENST00000312783.6_Missense_Mutation_p.V377E|AURKA_ENST00000395907.1_3'UTR	NM_198433.1	NP_940835.1	O14965	AURKA_HUMAN	aurora kinase A	377	Protein kinase.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|phosphatidylinositol-mediated signaling|regulation of protein stability|spindle organization	cytosol|nucleus|perinuclear region of cytoplasm|spindle microtubule|spindle pole centrosome	ATP binding|protein kinase binding|protein serine/threonine kinase activity			breast(2)|cervix(1)|endometrium(1)|large_intestine(4)|lung(9)|ovary(2)|prostate(1)|skin(2)	22			Colorectal(105;0.202)			GTGTTCAAGTACTTCTCTGAG	0.453													T	54945296	A	T	54945296	3	4	767	1	0	0	0	0	1	0	0	0	1226	391	14	5	85	5	AURKA	20	54945296	Missense_Mutation	SNP	A	TCGA-TQ-A7RO-01A-11D-A33T-08		54945296	8080224	36	57288											
MORC2	22880	broad.mit.edu	37	chr22	31332565	31332565	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgtttctgcttctcttccTgcgtcttcatgtcctttctg	1	21	7	12	1	5	0	1	0	4	0	8	0	7	0	2	0	2	3	2	0	0	6			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:31332565T>C	ENST00000397641.3	-	17	2078	c.1670A>G	c.(1669-1671)cAg>cGg	p.Q557R	MORC2_ENST00000469915.1_5'UTR|MORC2_ENST00000215862.4_Missense_Mutation_p.Q495R			Q9Y6X9	MORC2_HUMAN	MORC family CW-type zinc finger 2								ATP binding|zinc ion binding			breast(2)|kidney(2)|large_intestine(5)|lung(4)|ovary(2)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	21						CTTCTCTTCCTGCGTCTTCAT	0.517													C	31332565	T	C	31332565	3	2	767	1	0	0	0	0	1	0	0	0	9778	1580	55	3	1468	3	MORC2	22	31332565	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08		31332565	19972001	37	57289											
TST	7263	broad.mit.edu	37	chr22	37414310	37414310	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcagggagcggtccagtgtgGctttgaagacggccggttct	6	9	17	9	3	1	2	0	1	1	1	2	3	2	3	2	5	1	3	2	5	1	2			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chr22:37414310G>T	ENST00000403892.3	-	1	1198	c.464C>A	c.(463-465)gCc>gAc	p.A155D	TST_ENST00000249042.3_Missense_Mutation_p.A155D	NM_001270483.1	NP_001257412.1	Q16762	THTR_HUMAN	thiosulfate sulfurtransferase (rhodanese)	155	Hinge.				cyanate catabolic process|rRNA transport	mitochondrial matrix|plasma membrane	5S rRNA binding|thiosulfate sulfurtransferase activity			kidney(1)|large_intestine(1)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	7						GTCCAGTGTGGCTTTGAAGAC	0.597													T	37414310	G	T	37414310	3	4	767	1	0	0	0	0	1	0	0	0	16774	1203	42	4	437	4	TST	22	37414310	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08	6081745	37414310	13890256	38	57290											
ATG4A	115201	broad.mit.edu	37	chrX	107381181	107381181	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cattgtgccccttcgcctggGcataaaccaaatcaatcctg	10	10	7	14	1	1	0	1	0	0	0	3	0	2	0	5	1	2	1	5	1	4	3			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:107381181G>A	ENST00000372232.3	+	8	854	c.695G>A	c.(694-696)gGc>gAc	p.G232D	ATG4A_ENST00000372254.3_Missense_Mutation_p.G208D|ATG4A_ENST00000545696.1_Intron|ATG4A_ENST00000345734.3_Intron	NM_052936.3	NP_443168.2	Q8WYN0	ATG4A_HUMAN	autophagy related 4A, cysteine peptidase	232					autophagy|protein transport|proteolysis	cytoplasm	cysteine-type peptidase activity	p.G232D(2)		endometrium(3)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)	11						CTTCGCCTGGGCATAAACCAA	0.522													A	107381181	G	A	107381181	3	1	767	1	0	0	0	0	1	0	0	0	1101	1203	42	2	725	2	ATG4A	23	107381181	Missense_Mutation	SNP	G	TCGA-TQ-A7RO-01A-11D-A33T-08		107381181	47889379	39	57291											
LUZP4	51213	broad.mit.edu	37	chrX	114541285	114541285	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcgtggccactgagagagaTctcataaatcagtcagggag	12	8	12	9	1	3	2	3	1	1	2	5	5	3	3	1	2	0	0	1	2	2	1			TCGA-TQ-A7RO-01A-11D-A33T-08	TCGA-TQ-A7RO-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1cf5c481-732a-40a6-a557-2c2a837d7ed9	a291b686-5cc5-4e06-82fe-27e38cd997dc	g.chrX:114541285T>G	ENST00000371920.3	+	4	865	c.858T>G	c.(856-858)gaT>gaG	p.D286E	LUZP4_ENST00000451986.2_Missense_Mutation_p.D204E	NM_016383.3	NP_057467.1	Q9P127	LUZP4_HUMAN	leucine zipper protein 4	286						nucleus				endometrium(1)|large_intestine(2)|lung(4)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	14						CTGAGAGAGATCTCATAAATC	0.418													G	114541285	T	G	114541285	3	3	767	1	0	0	0	0	1	0	0	0	9158	1432	50	5	872	5	LUZP4	23	114541285	Missense_Mutation	SNP	T	TCGA-TQ-A7RO-01A-11D-A33T-08	7160104	114541285	40729275	40	57292											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12908038	12908038	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgccatacttggaaaagatCgcctccacatccgatttctt	10	13	6	12	2	1	1	0	0	1	1	4	3	3	2	4	1	2	0	4	1	3	5			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:12908038C>T	ENST00000317869.6	-	2	330	c.105G>A	c.(103-105)gcG>gcA	p.A35A		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1									p.A35A(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						TGGAAAAGATCGCCTCCACAT	0.473													T	12908038	C	T	12908038	2	4	768	1	0	0	0	0	0	0	0	1	7318	871	31	1		1	HNRNPCL1	1	12908038	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		12908038	236342583	1	57293											
COL9A2	1298	broad.mit.edu	37	chr1	40781308	40781308	+	Frame_Shift_Del	DEL	G	G	-																															ccggcggtcccgggggacccGgggggccccgctctcccggt																										TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:40781308delG	ENST00000372748.3	-	2	200	c.104delC	c.(103-105)ccgfs	p.P35fs		NM_001852.3	NP_001843.1	Q14055	CO9A2_HUMAN	collagen, type IX, alpha 2	35	Triple-helical region 4 (COL4).				axon guidance|skeletal system development	collagen type IX				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(4)|stomach(2)|urinary_tract(2)	22	Lung NSC(20;4.38e-06)|Ovarian(52;0.00167)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.08e-17)			CGGGGGACCCGGGGGGCCCCG	0.682													-	40781308	G	-	40781308	7	5	768	1	0	1	0	1	0	0	0	0	3739	1116	39	0	2089	0	COL9A2	1	40781308	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RP-01A-21D-A34A-08	27873270	40781308	208469313	2	57294											
KIAA1804	84451	broad.mit.edu	37	chr1	233518415	233518415	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agaatgaggagcaaaaccagCcggccatctatatatgaact	16	7	9	9	1	1	3	0	2	1	1	1	4	1	4	3	2	4	1	3	2	7	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:233518415C>T	ENST00000366624.3	+	10	3330	c.3069C>T	c.(3067-3069)agC>agT	p.S1023S	MLK4_ENST00000366622.1_Silent_p.S469S	NM_032435.2	NP_115811.2																					GCAAAACCAGCCGGCCATCTA	0.423													T	233518415	C	T	233518415	2	4	768	1	0	0	0	0	0	0	0	1	8317	738	26	2		2	KIAA1804	1	233518415	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	192737107	233518415	15732206	3	57295											
RYR2	6262	broad.mit.edu	37	chr1	237729966	237729966	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggacggtggtattttgaatTtgagacggtcactgctggag	8	12	15	6	3	1	2	1	2	0	1	1	5	1	4	0	5	1	2	0	5	2	4			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr1:237729966T>C	ENST00000366574.2	+	28	3631	c.3314T>C	c.(3313-3315)tTt>tCt	p.F1105S	RYR2_ENST00000360064.6_Missense_Mutation_p.F1103S|RYR2_ENST00000542537.1_Missense_Mutation_p.F1089S	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1105	4 X approximate repeats.|B30.2/SPRY 2.				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			TATTTTGAATTTGAGACGGTC	0.557													C	237729966	T	C	237729966	3	2	768	1	0	0	0	0	1	0	0	0	13860	1841	64	3	3424	3	RYR2	1	237729966	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	4211551	237729966	11520655	4	57296											
SOS1	6654	broad.mit.edu	37	chr2	39234309	39234309	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	caccacagctactctttcttCtaaattttcagtttctacaa	11	16	2	12	0	5	0	1	0	4	0	5	0	5	0	1	0	3	2	1	0	5	8			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:39234309C>T	ENST00000426016.1	-	17	2622	c.2536G>A	c.(2536-2538)Gaa>Aaa	p.E846K	SOS1_ENST00000395038.2_Missense_Mutation_p.E846K|SOS1_ENST00000402219.2_Missense_Mutation_p.E846K			Q07889	SOS1_HUMAN	son of sevenless homolog 1 (Drosophila)	846	Ras-GEF.		E -> K (in NS4).		apoptosis|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|induction of apoptosis by extracellular signals|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol	DNA binding|protein binding|Rho GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	p.E846K(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(29)|ovary(4)|prostate(1)|skin(4)|stomach(1)|urinary_tract(2)	75		all_hematologic(82;0.21)				ACTCTTTCTTCTAAATTTTCA	0.308									Noonan syndrome				T	39234309	C	T	39234309	3	4	768	1	0	0	0	0	1	0	0	0	15030	922	32	2	1497	2	SOS1	2	39234309	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		39234309	203965064	5	57297											
CRYGA	1418	broad.mit.edu	37	chr2	209027942	209027942	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	actcacatgaggaattatacGgcaggattggaccgagtcgc	12	8	12	9	3	1	1	1	1	0	0	2	5	1	4	1	4	1	1	1	4	3	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr2:209027942G>A	ENST00000304502.4	-	2	257	c.238C>T	c.(238-240)Cgt>Tgt	p.R80C		NM_014617.3	NP_055432.2			crystallin, gamma A											endometrium(1)|kidney(3)|large_intestine(1)|lung(7)	12				Epithelial(149;0.067)|LUSC - Lung squamous cell carcinoma(261;0.0708)|Lung(261;0.135)		GGAATTATACGGCAGGATTGG	0.493													A	209027942	G	A	209027942	3	1	768	1	0	0	0	0	1	0	0	0	3945	1116	39	1	294	1	CRYGA	2	209027942	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	169793633	209027942	34171431	6	57298											
SETMAR	6419	broad.mit.edu	37	chr3	4355487	4355488	+	Frame_Shift_Ins	INS	-	-	G																															agcttgcccctccctatagtINSggaagacagtggttggctag																										TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:4355487_4355488insG	ENST00000430981.1	+	2	1072_1073	c.1062_1063insG	c.(1063-1065)ggafs	p.G355fs	SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000358065.4_Intron|SETMAR_ENST00000425863.1_Intron	NM_001276325.1	NP_001263254.1	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	0	Mariner transposase Hsmar1.				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		CTCCCTATAGTGGAAGACAGTG	0.505								Chromatin Structure					G	4355488	-	G	4355487	7	5	768	1	0	1	1	0	0	0	0	0	14233	1711	59	0		0	SETMAR	3	4355487	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RP-01A-21D-A34A-08		4355487	193666943	7	57299											
TOP2B	7155	broad.mit.edu	37	chr3	25670393	25670393	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctatatgttttttccattcGtcaaattcaggaatactgta	11	18	5	7	1	3	0	2	0	1	0	5	1	4	1	1	1	1	2	1	1	6	9			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:25670393G>A	ENST00000435706.2	-	15	2037	c.1836C>T	c.(1834-1836)gaC>gaT	p.D612D	TOP2B_ENST00000264331.4_Silent_p.D617D			Q02880	TOP2B_HUMAN	topoisomerase (DNA) II beta 180kDa	617					DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|resolution of meiotic recombination intermediates|sister chromatid segregation	cytosol|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex|WINAC complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity			breast(2)|endometrium(5)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|skin(2)|stomach(1)	36						TTTTCCATTCGTCAAATTCAG	0.264													A	25670393	G	A	25670393	2	1	768	1	0	0	0	0	0	0	0	1	16467	1136	40	1		1	TOP2B	3	25670393	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	21314906	25670393	172352037	8	57300											
CACNA2D3	55799	broad.mit.edu	37	chr3	54615867	54615867	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctatgtggaaccttgcctgaAtggaactttggtgcaagccg	9	11	12	9	1	0	1	0	1	0	0	0	3	0	3	3	3	5	1	3	3	5	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:54615867A>G	ENST00000474759.1	+	9	974	c.926A>G	c.(925-927)aAt>aGt	p.N309S	CACNA2D3_ENST00000490478.1_Missense_Mutation_p.N215S|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.N309S|CACNA2D3_ENST00000288197.5_Missense_Mutation_p.N309S	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	309	VWFA.					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)		CCTTGCCTGAATGGAACTTTG	0.448													G	54615867	A	G	54615867	3	3	768	1	0	0	0	0	1	0	0	0	2576	101	4	3	960	3	CACNA2D3	3	54615867	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	28945474	54615867	143406563	9	57301											
B4GALT4	8702	broad.mit.edu	37	chr3	118935161	118935161	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ttacccacttcaggcaggggCcgggaaattttcattctttg	8	13	10	10	1	3	0	2	0	1	0	3	1	3	1	2	4	1	1	2	4	2	6			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:118935161C>T	ENST00000467604.1	-	7	1219	c.828G>A	c.(826-828)cgG>cgA	p.R276R	B4GALT4_ENST00000460321.1_5'UTR|B4GALT4_ENST00000483209.1_Silent_p.R276R|B4GALT4_ENST00000359213.3_Silent_p.R276R|B4GALT4_ENST00000471675.1_Intron|B4GALT4_ENST00000393765.2_Silent_p.R276R			O60513	B4GT4_HUMAN	UDP-Gal:betaGlcNAc beta 1,4- galactosyltransferase, polypeptide 4	276					membrane lipid metabolic process|post-translational protein modification|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	metal ion binding|N-acetyllactosamine synthase activity			breast(2)|endometrium(1)|large_intestine(1)|lung(6)|skin(2)|stomach(2)	14				GBM - Glioblastoma multiforme(114;0.222)	N-Acetyl-D-glucosamine(DB00141)	CAGGCAGGGGCCGGGAAATTT	0.418													T	118935161	C	T	118935161	2	4	768	1	0	0	0	0	0	0	0	1	1278	726	26	2		2	B4GALT4	3	118935161	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	64319294	118935161	79087269	10	57302											
DNAJC13	23317	broad.mit.edu	37	chr3	132207208	132207208	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttataccatatcatgcaaGataacccacagttaccccgc	13	10	5	13	1	1	1	1	0	0	1	1	1	1	1	4	0	4	3	4	0	6	5			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:132207208G>A	ENST00000260818.6	+	30	3582	c.3334G>A	c.(3334-3336)Gat>Aat	p.D1112N		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1112							heat shock protein binding			breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TATCATGCAAGATAACCCACA	0.373													A	132207208	G	A	132207208	3	1	768	1	0	0	0	0	1	0	0	0	4671	942	33	2	3448	2	DNAJC13	3	132207208	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	13272047	132207208	65815222	11	57303											
EIF4A2	1974	broad.mit.edu	37	chr3	186501416	186501416	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatcatgtctggtggctccgCggattataacaggtatgcag	9	11	13	8	2	2	0	1	0	1	0	3	2	3	1	1	4	2	3	1	4	3	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:186501416C>T	ENST00000323963.5	+	1	81	c.17C>T	c.(16-18)gCg>gTg	p.A6V	EIF4A2_ENST00000440191.2_Missense_Mutation_p.A6V|RP11-573D15.9_ENST00000577781.1_RNA|EIF4A2_ENST00000356531.5_5'UTR			Q14240	IF4A2_HUMAN	eukaryotic translation initiation factor 4A2	6					interspecies interaction between organisms|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|protein binding|translation initiation factor activity			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(2)|urinary_tract(1)	28	all_cancers(143;2.68e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.07e-20)	GBM - Glioblastoma multiforme(93;0.0704)		GGTGGCTCCGCGGATTATAAC	0.567			T	BCL6	NHL								T	186501416	C	T	186501416	3	4	768	1	0	0	0	0	1	0	0	0	5066	768	27	1	19	1	EIF4A2	3	186501416	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	54294208	186501416	11521014	12	57304											
ATP13A3	79572	broad.mit.edu	37	chr3	194154513	194154513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtctaacctgtgaccatgaCggtgcgaatgttggctttat	9	13	11	8	2	1	2	0	2	1	0	1	3	1	2	2	2	2	2	2	2	3	4	rs138465420	by1000genomes	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr3:194154513C>T	ENST00000439040.1	-	21	3024	c.2233G>A	c.(2233-2235)Gtc>Atc	p.V745I	ATP13A3_ENST00000256031.4_Missense_Mutation_p.V745I			Q9H7F0	AT133_HUMAN	ATPase type 13A3	745					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		GTGACCATGACGGTGCGAATG	0.348													T	194154513	C	T	194154513	3	4	768	1	0	0	0	0	1	0	0	0	1130	536	19	1	1499	1	ATP13A3	3	194154513	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	7653097	194154513	3867917	13	57305											
SH3TC1	54436	broad.mit.edu	37	chr4	8218826	8218826	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gaaacagactcttcaccgccGagccccagcgtgtcctccga	9	6	9	17	4	2	1	1	0	1	1	4	4	4	1	6	0	3	0	6	0	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:8218826G>A	ENST00000539824.1	+	7	917	c.543G>A	c.(541-543)ccG>ccA	p.P181P	SH3TC1_ENST00000245105.3_Silent_p.P257P			Q8TE82	S3TC1_HUMAN	SH3 domain and tetratricopeptide repeats 1	257							binding			NS(1)|breast(3)|endometrium(4)|kidney(4)|large_intestine(6)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	33						CTTCACCGCCGAGCCCCAGCG	0.672													A	8218826	G	A	8218826	2	1	768	1	0	0	0	0	0	0	0	1	14355	1045	37	1		1	SH3TC1	4	8218826	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		8218826	182935450	14	57306											
HS3ST1	9957	broad.mit.edu	37	chr4	11401216	11401216	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcagcagccggatggaCgggttcatgctgtagactcg	9	8	15	9	3	1	2	1	1	0	1	2	4	1	4	1	3	4	5	1	3	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:11401216C>T	ENST00000002596.5	-	2	1588	c.414G>A	c.(412-414)ccG>ccA	p.P138P		NM_005114.2	NP_005105.1	O14792	HS3S1_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 1	138						Golgi lumen|integral to membrane	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|skin(3)	15						GCCGGATGGACGGGTTCATGC	0.592													T	11401216	C	T	11401216	2	4	768	1	0	0	0	0	0	0	0	1	7418	523	19	1		1	HS3ST1	4	11401216	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	3182390	11401216	179753060	15	57307											
GPRIN3	285513	broad.mit.edu	37	chr4	90171145	90171145	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ccattggcattcttacacagGagagctggtcgatgccgagg	9	9	13	10	2	1	1	0	0	1	1	2	4	1	1	2	4	3	2	2	4	1	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr4:90171145G>A	ENST00000609438.1	-	2	635	c.117C>T	c.(115-117)ctC>ctT	p.L39L	GPRIN3_ENST00000333209.4_Silent_p.L39L	NM_198281.2	NP_938022.2	Q6ZVF9	GRIN3_HUMAN	GPRIN family member 3				L -> V (in dbSNP:rs11734353).							breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|prostate(2)|skin(1)	36		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;5.67e-05)		TCTTACACAGGAGAGCTGGTC	0.557													A	90171145	G	A	90171145	2	1	768	1	0	0	0	0	0	0	0	1	6786	1161	41	2		2	GPRIN3	4	90171145	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	78769929	90171145	100983131	16	57308											
ADAMTS16	170690	broad.mit.edu	37	chr5	5242305	5242305	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctccgtgtcctgcggaggggGtaggtgccttccagtgctgc	3	10	16	12	2	0	0	0	0	0	0	3	1	3	1	4	4	4	2	4	4	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:5242305G>A	ENST00000274181.7	+	17	2800		c.e17+1			NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16						proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCGGAGGGGGTAGGTGCCTT	0.627													A	5242305	G	A	5242305	5	1	768	1	0	0	0	0	0	0	1	0	261	1275	44	2	2729	2	ADAMTS16	5	5242305	Splice_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		5242305	175672955	17	57309											
PCDHGA1	56114	broad.mit.edu	37	chr5	140712371	140712371	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgcgtcttcctggcctTcgtcatcgtgctgctggcgc	1	13	11	16	4	2	0	1	0	1	0	6	0	4	0	3	2	3	2	3	2	0	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr5:140712371T>G	ENST00000517417.1	+	1	2120	c.2120T>G	c.(2119-2121)tTc>tGc	p.F707C	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.F707C	NM_018912.2	NP_061735.1														breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCCTGGCCTTCGTCATCGTG	0.662													G	140712371	T	G	140712371	3	3	768	1	0	0	0	0	1	0	0	0	11626	1783	62	5	2122	5	PCDHGA1	5	140712371	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	135470066	140712371	40202889	18	57310											
DSP	1832	broad.mit.edu	37	chr6	7579661	7579661	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aagcgaagcttgcgagcctgGaggagctgaagagacaggct	12	5	16	8	2	0	2	0	1	0	1	0	7	0	4	1	3	5	3	1	3	3	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:7579661G>A	ENST00000379802.3	+	23	3579	c.3238G>A	c.(3238-3240)Gag>Aag	p.E1080K	DSP_ENST00000418664.2_Missense_Mutation_p.E1080K	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1080	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TGCGAGCCTGGAGGAGCTGAA	0.478													A	7579661	G	A	7579661	3	1	768	1	0	0	0	0	1	0	0	0	4820	1175	41	2	3328	2	DSP	6	7579661	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		7579661	163535406	19	57311											
C6orf25	80739	broad.mit.edu	37	chr6	31691585	31691585	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	acccccaccgtgcctcccctCcagcctttcgtcggccgcct	3	8	7	23	4	0	0	0	0	0	0	4	0	2	0	10	1	2	0	10	1	0	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:31691585C>A	ENST00000375809.3	+	2	242	c.231C>A	c.(229-231)ctC>ctA	p.L77L	C6orf25_ENST00000375810.4_Silent_p.L77L|C6orf25_ENST00000375805.2_Silent_p.L77L|C6orf25_ENST00000480039.1_Silent_p.L77L	NM_025260.3|NM_138272.2|NM_138277.2	NP_079536.2|NP_612116.1|NP_612121.1	O95866	G6B_HUMAN	chromosome 6 open reading frame 25	77						endoplasmic reticulum|Golgi apparatus|integral to membrane|plasma membrane	heparin binding|receptor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)	9						TGCCTCCCCTCCAGCCTTTCG	0.687													A	31691585	C	A	31691585	2	1	768	1	0	0	0	0	0	0	0	1	2382	842	30	4		4	C6orf25	6	31691585	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	24111924	31691585	139423482	20	57312											
COQ3	51805	broad.mit.edu	37	chr6	99817677	99817680	+	Frame_Shift_Del	DEL	TGTT	TGTT	-																															ttatagagcattcctaccacTgtttgaactgacagaccatc																								rs112847497		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr6:99817677_99817680delTGTT	ENST00000254759.3	-	7	930_933	c.906_909delAACA	c.(904-909)caaacafs	p.QT302fs	COQ3_ENST00000369240.1_Frame_Shift_Del_p.QT74fs|COQ3_ENST00000369242.1_Frame_Shift_Del_p.QT74fs	NM_017421.3	NP_059117.3	Q9NZJ6	COQ3_HUMAN	coenzyme Q3 methyltransferase	302					glycerol metabolic process|ubiquinone biosynthetic process	mitochondrial matrix	2-polyprenyl-6-methoxy-1,4-benzoquinone methyltransferase activity|3-demethylubiquinone-9 3-O-methyltransferase activity|hexaprenyldihydroxybenzoate methyltransferase activity			cervix(1)|lung(5)|upper_aerodigestive_tract(2)	8		all_cancers(76;1.24e-06)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(107;0.00716)|Colorectal(196;0.0691)|Lung NSC(302;0.186)		BRCA - Breast invasive adenocarcinoma(108;0.0625)		TTCCTACCACTGTTTGAACTGACA	0.368													-	99817680	TGTT	-	99817677	7	5	768	1	0	1	0	1	0	0	0	0	3777	1567	55	0	204	0	COQ3	6	99817677	Frame_Shift_Del	DEL	TGTT	TCGA-TQ-A7RP-01A-21D-A34A-08	68126092	99817677	71297390	21	57313											
CAMK2B	816	broad.mit.edu	37	chr7	44323782	44323782	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttggctgcatactcatggccGgtgcagagcttgacacagcg	8	9	13	11	2	1	2	1	1	0	1	1	2	1	2	1	3	5	4	1	3	1	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:44323782G>A	ENST00000395749.2	-	2	184	c.108C>T	c.(106-108)acC>acT	p.T36T	CAMK2B_ENST00000395747.2_Silent_p.T36T|CAMK2B_ENST00000353625.4_Silent_p.T36T|CAMK2B_ENST00000440254.2_Silent_p.T36T|CAMK2B_ENST00000258682.6_Silent_p.T36T|CAMK2B_ENST00000358707.3_Silent_p.T36T|CAMK2B_ENST00000347193.4_Silent_p.T36T|CAMK2B_ENST00000502837.2_5'UTR|CAMK2B_ENST00000457475.1_Silent_p.T36T|CAMK2B_ENST00000346990.4_Silent_p.T36T|CAMK2B_ENST00000350811.3_Silent_p.T36T	NM_001220.4	NP_001211.3	Q13554	KCC2B_HUMAN	calcium/calmodulin-dependent protein kinase II beta	36	Protein kinase.				interferon-gamma-mediated signaling pathway|synaptic transmission	cytosol|endocytic vesicle membrane|nucleoplasm|plasma membrane	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|ovary(2)|skin(1)	18						ACTCATGGCCGGTGCAGAGCT	0.587													A	44323782	G	A	44323782	2	1	768	1	0	0	0	0	0	0	0	1	2626	1103	39	1		1	CAMK2B	7	44323782	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		44323782	114814881	22	57314											
MYO1G	64005	broad.mit.edu	37	chr7	45007262	45007262	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttgaagagtgtgccagccGtcagggggcgcttggtcacc	6	9	15	11	2	3	2	2	1	1	1	3	2	3	2	3	3	2	1	3	3	1	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:45007262G>A	ENST00000258787.7	-	14	1860	c.1724C>T	c.(1723-1725)aCg>aTg	p.T575M		NM_033054.2	NP_149043.2	B0I1T2	MYO1G_HUMAN	myosin IG	575	Myosin head-like.					myosin complex|plasma membrane	actin binding|ATP binding|calmodulin binding|motor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|pancreas(1)|skin(4)	28						TGTGCCAGCCGTCAGGGGGCG	0.622													A	45007262	G	A	45007262	3	1	768	1	0	0	0	0	1	0	0	0	10150	1145	40	1	1368	1	MYO1G	7	45007262	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	683480	45007262	114131401	23	57315											
EGFR	1956	broad.mit.edu	37	chr7	55221710	55221710	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcctccataggtctgcCgcaaattccgagacgaagcc	9	9	8	15	3	2	1	0	0	2	1	6	3	5	1	5	1	2	1	5	1	3	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:55221710C>T	ENST00000275493.2	+	7	931	c.754C>T	c.(754-756)Cgc>Tgc	p.R252C	EGFR_ENST00000455089.1_Missense_Mutation_p.R207C|EGFR_ENST00000442591.1_Missense_Mutation_p.R252C|EGFR_ENST00000342916.3_Missense_Mutation_p.R252C|EGFR_ENST00000344576.2_Missense_Mutation_p.R252C|EGFR_ENST00000420316.2_Missense_Mutation_p.R252C|EGFR_ENST00000454757.2_Missense_Mutation_p.R199C	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	252					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.R252C(1)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	ATAGGTCTGCCGCAAATTCCG	0.582		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55221710	C	T	55221710	3	4	768	1	0	0	0	0	1	0	0	0	5006	652	23	1	780	1	EGFR	7	55221710	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	10214448	55221710	103916953	24	57316											
TRIM24	8805	broad.mit.edu	37	chr7	138223421	138223421	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagccttgcaaaggaccatcGcatgaaacttatgcaacaac	15	7	8	11	1	0	1	0	1	0	0	1	3	0	2	2	1	6	3	2	1	5	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:138223421G>A	ENST00000343526.4	+	7	1231	c.1016G>A	c.(1015-1017)cGc>cAc	p.R339H	TRIM24_ENST00000415680.2_Missense_Mutation_p.R339H|TRIM24_ENST00000497516.1_3'UTR			O15164	TIF1A_HUMAN	tripartite motif containing 24	339					cellular response to estrogen stimulus|protein catabolic process|regulation of apoptosis|regulation of protein stability|transcription from RNA polymerase II promoter	cytoplasm	chromatin binding|estrogen response element binding|histone acetyl-lysine binding|p53 binding|transcription coactivator activity|ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						AAGGACCATCGCATGAAACTT	0.388													A	138223421	G	A	138223421	3	1	768	1	0	0	0	0	1	0	0	0	16599	1087	38	1	1042	1	TRIM24	7	138223421	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	83001711	138223421	20915242	25	57317											
TMUB1	83590	broad.mit.edu	37	chr7	150779522	150779522	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggcgttggggtccctgaCggctggggcagtgggtcccc	3	8	19	11	2	0	1	0	1	0	0	2	2	2	1	3	7	0	3	3	7	0	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr7:150779522C>T	ENST00000392818.3	-	2	486	c.129G>A	c.(127-129)ccG>ccA	p.P43P	TMUB1_ENST00000297533.4_Silent_p.P43P|TMUB1_ENST00000476627.1_Silent_p.P43P|TMUB1_ENST00000482202.1_Silent_p.P43P|TMUB1_ENST00000462940.1_Silent_p.P43P	NM_031434.3	NP_113622.1	Q9BVT8	TMUB1_HUMAN	transmembrane and ubiquitin-like domain containing 1	43						cytoplasm|integral to membrane|nucleus				endometrium(1)|lung(1)	2			OV - Ovarian serous cystadenocarcinoma(82;0.00989)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GGGTCCCTGACGGCTGGGGCA	0.677													T	150779522	C	T	150779522	2	4	768	1	0	0	0	0	0	0	0	1	16364	523	19	1		1	TMUB1	7	150779522	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	12556101	150779522	8359141	26	57318											
PCMTD1	115294	broad.mit.edu	37	chr8	52746176	52746176	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tccagctccacaataaattcGatcatactgatgactgtcag	13	11	6	11	1	2	2	2	2	0	0	5	3	4	2	2	0	2	1	2	0	4	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:52746176G>A	ENST00000360540.5	-	5	890	c.484C>T	c.(484-486)Cga>Tga	p.R162*	PCMTD1_ENST00000544451.1_Nonsense_Mutation_p.R86*|PCMTD1_ENST00000519559.1_5'UTR|PCMTD1_ENST00000522514.1_Nonsense_Mutation_p.R162*	NM_052937.2	NP_443169.2	Q96MG8	PCMD1_HUMAN	protein-L-isoaspartate (D-aspartate) O-methyltransferase domain containing 1	162						cytoplasm	protein-L-isoaspartate (D-aspartate) O-methyltransferase activity			NS(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(17)|prostate(2)|skin(8)|soft_tissue(1)	37		Lung NSC(129;0.0795)|all_lung(136;0.144)				CAATAAATTCGATCATACTGA	0.363													A	52746176	G	A	52746176	4	1	768	1	0	0	0	0	0	1	0	0	11662	1066	37	1	601	1	PCMTD1	8	52746176	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		52746176	93617846	27	57319											
PREX2	80243	broad.mit.edu	37	chr8	68956801	68956801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaacacggaggtgatggaaGtggagaatgtggatgatggc	12	8	17	4	1	1	3	1	2	0	1	1	7	1	6	0	6	1	0	0	6	3	0			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:68956801G>A	ENST00000288368.4	+	8	1196	c.919G>A	c.(919-921)Gtg>Atg	p.V307M	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	307	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						GGTGATGGAAGTGGAGAATGT	0.418													A	68956801	G	A	68956801	3	1	768	1	0	0	0	0	1	0	0	0	12563	1029	36	2	949	2	PREX2	8	68956801	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	16210625	68956801	77407221	28	57320											
RECQL4	9401	broad.mit.edu	37	chr8	145742489	145742489	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcccgtagtccggcaccgagCcctggcggctccgccctggc	3	5	14	19	5	0	0	0	0	0	0	2	1	2	0	6	4	1	3	6	4	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr8:145742489C>A	ENST00000428558.2	-	4	340	c.299G>T	c.(298-300)gGc>gTc	p.G100V	RECQL4_ENST00000532237.1_5'UTR	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	100					DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CGGCACCGAGCCCTGGCGGCT	0.672			"N, F, S"			"osteosarcoma, skin basal and sqamous cell"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome				A	145742489	C	A	145742489	3	1	768	1	0	0	0	0	1	0	0	0	13290	739	26	4	3400	4	RECQL4	8	145742489	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	76785688	145742489	621533	29	57321											
C9orf72	203228	broad.mit.edu	37	chr9	27565531	27565531	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tatgcaatttgcatatacctGatcttccattctctctgtgc	8	17	5	11	0	3	1	0	1	3	0	5	1	4	1	2	0	4	2	2	0	4	6			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:27565531G>A	ENST00000380003.3	-	3	565	c.502C>T	c.(502-504)Cag>Tag	p.Q168*	C9orf72_ENST00000488117.1_5'UTR|C9orf72_ENST00000379997.3_Nonsense_Mutation_p.Q168*	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72	168										breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		GCATATACCTGATCTTCCATT	0.353													A	27565531	G	A	27565531	4	1	768	1	0	0	0	0	0	1	0	0	2521	1299	45	2	983	2	C9orf72	9	27565531	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		27565531	113647900	30	57322											
GNA14	9630	broad.mit.edu	37	chr9	80046294	80046294	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tgatgccggtggtgggcactCggacgcgaagcacatcttgt	7	9	15	10	4	1	1	0	1	1	0	2	3	1	2	1	4	2	2	1	4	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:80046294C>G	ENST00000341700.6	-	4	1049	c.536G>C	c.(535-537)cGa>cCa	p.R179P	GNA14_ENST00000464095.1_5'UTR	NM_004297.3	NP_004288.1	O95837	GNA14_HUMAN	guanine nucleotide binding protein (G protein), alpha 14	179					activation of phospholipase C activity by dopamine receptor signaling pathway|G-protein signaling, coupled to cAMP nucleotide second messenger|platelet activation|protein ADP-ribosylation	heterotrimeric G-protein complex	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	p.R179Q(1)		endometrium(3)|kidney(1)|large_intestine(7)|lung(4)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	24						GGTGGGCACTCGGACGCGAAG	0.493													G	80046294	C	G	80046294	3	3	768	1	0	0	0	0	1	0	0	0	6558	884	31	4	547	4	GNA14	9	80046294	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	52480763	80046294	61167137	31	57323											
PTPDC1	138639	broad.mit.edu	37	chr9	96859862	96859862	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcacgacttctgaaacaCgtgccaaaaattatccacct	14	8	7	12	2	1	1	0	1	1	0	2	3	2	1	3	1	2	1	3	1	4	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:96859862C>T	ENST00000375360.3	+	7	1192	c.852C>T	c.(850-852)caC>caT	p.H284H	PTPDC1_ENST00000288976.3_Silent_p.H336H	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	284							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TTCTGAAACACGTGCCAAAAA	0.478													T	96859862	C	T	96859862	2	4	768	1	0	0	0	0	0	0	0	1	12859	535	19	1		1	PTPDC1	9	96859862	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	16813568	96859862	44353569	32	57324											
CEL	1056	broad.mit.edu	37	chr9	135939834	135939834	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgggttcgtggaaggcgtcaAtaagaagctcggcctcctgg	8	9	15	9	3	1	1	1	0	0	1	4	2	2	2	2	5	1	2	2	5	4	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr9:135939834A>G	ENST00000372080.4	+	2	135	c.119A>G	c.(118-120)aAt>aGt	p.N40S	CEL_ENST00000351304.7_Missense_Mutation_p.N37S	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	37	Heparin-binding.				cholesterol catabolic process|fatty acid catabolic process|intestinal cholesterol absorption|intestinal lipid catabolic process|pancreatic juice secretion|protein esterification	cytosol|extracellular space	acylglycerol lipase activity|carboxylesterase activity|heparin binding|sterol esterase activity|triglyceride lipase activity			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GAAGGCGTCAATAAGAAGCTC	0.627													G	135939834	A	G	135939834	3	3	768	1	0	0	0	0	1	0	0	0	3239	101	4	3	125	3	CEL	9	135939834	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	39079972	135939834	5273597	33	57325											
C10orf10	11067	broad.mit.edu	37	chr10	45473358	45473358	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgagatatagacctcaCgtagtcatccaggctaggag	12	8	11	10	2	2	2	2	0	0	2	4	4	3	3	2	2	0	2	2	2	4	4			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:45473358C>T	ENST00000298295.3	-	2	338	c.121G>A	c.(121-123)Gtg>Atg	p.V41M	RASSF4_ENST00000472561.1_Intron|RASSF4_ENST00000374417.2_Intron|RASSF4_ENST00000340258.5_Intron|RASSF4_ENST00000334940.6_Intron|C10orf10_ENST00000496638.1_Intron	NM_007021.3	NP_008952.1	Q9NTK1	DEPP_HUMAN	chromosome 10 open reading frame 10	41						mitochondrion				lung(1)	1						ATAGACCTCACGTAGTCATCC	0.662													T	45473358	C	T	45473358	3	4	768	1	0	0	0	0	1	0	0	0	1590	536	19	1	521	1	C10orf10	10	45473358	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		45473358	90061389	34	57326											
PTEN	5728	broad.mit.edu	37	chr10	89717741	89717741	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtgtggtgatatcaaagtaGagttcttccacaaacagaac	14	11	9	7	0	2	3	1	1	1	2	3	3	3	3	1	1	2	2	1	1	5	4	rs121909228		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr10:89717741G>T	ENST00000371953.3	+	7	2123	c.766G>T	c.(766-768)Gag>Tag	p.E256*	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	256	C2 tensin-type.				activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.E256K(2)|p.G165_*404del(1)|p.?(1)|p.D252_K263>AKE(1)|p.K254fs*39(1)|p.E256*(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TATCAAAGTAGAGTTCTTCCA	0.373		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			T	89717741	G	T	89717741	4	4	768	1	0	0	0	0	0	1	0	0	12823	943	33	4	792	4	PTEN	10	89717741	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	44244383	89717741	45817006	35	57327											
CD81	975	broad.mit.edu	37	chr11	2416679	2416679	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaagcagttctatgaccagGccctacagcaggccgtggtg	9	8	13	11	1	1	2	0	2	1	0	1	2	1	2	3	3	3	3	3	3	3	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:2416679G>A	ENST00000263645.5	+	5	644	c.388G>A	c.(388-390)Gcc>Acc	p.A130T	CD81_ENST00000524805.1_3'UTR|CD81_ENST00000526072.1_Missense_Mutation_p.A59T|CD81_ENST00000492627.1_Missense_Mutation_p.A59T|CD81_ENST00000381036.3_Missense_Mutation_p.A168T|CD81_ENST00000481687.1_Missense_Mutation_p.A136T	NM_004356.3	NP_004347.1	P60033	CD81_HUMAN	CD81 molecule	130					activation of MAPK activity|cell proliferation|phosphatidylinositol biosynthetic process|positive regulation of 1-phosphatidylinositol 4-kinase activity|positive regulation of cell proliferation|positive regulation of peptidyl-tyrosine phosphorylation|protein localization|regulation of immune response|virion attachment, binding of host cell surface receptor	integral to plasma membrane	protein binding			endometrium(1)|lung(3)|skin(1)	5		all_epithelial(84;0.000161)|Breast(177;0.000962)|Medulloblastoma(188;0.00106)|Ovarian(85;0.0014)|all_neural(188;0.0137)|Lung NSC(207;0.209)		BRCA - Breast invasive adenocarcinoma(625;0.000338)|LUSC - Lung squamous cell carcinoma(625;0.191)		CTATGACCAGGCCCTACAGCA	0.682													A	2416679	G	A	2416679	3	1	768	1	0	0	0	0	1	0	0	0	3069	1203	42	2	406	2	CD81	11	2416679	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		2416679	132589837	36	57328											
OR5T3	390154	broad.mit.edu	37	chr11	56020078	56020078	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caacacagatgcttctttttGttacttttggaactacagaa	12	15	6	8	0	1	2	0	0	1	2	1	3	1	3	0	1	5	2	0	1	5	7	rs143584658		TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:56020078G>T	ENST00000303059.3	+	1	403	c.403G>T	c.(403-405)Gtt>Ttt	p.V135F		NM_001004747.1	NP_001004747.1	Q8NGG3	OR5T3_HUMAN	olfactory receptor, family 5, subfamily T, member 3	135					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(23)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)	39	Esophageal squamous(21;0.00448)					GCTTCTTTTTGTTACTTTTGG	0.383													T	56020078	G	T	56020078	3	4	768	1	0	0	0	0	1	0	0	0	11259	1377	48	4	405	4	OR5T3	11	56020078	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	53603399	56020078	78986438	37	57329											
MS4A4A	51338	broad.mit.edu	37	chr11	60064771	60064771	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaccctatttccgtgtatatCgggtacacaatttgggggtc	9	13	10	9	2	0	0	0	0	0	0	3	0	1	0	2	3	2	2	2	3	6	6			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:60064771C>T	ENST00000355131.3	+	4	469	c.246C>T	c.(244-246)atC>atT	p.I82I	MS4A4A_ENST00000337908.4_Silent_p.I101I|MS4A4A_ENST00000532114.1_Silent_p.I101I|MS4A4A_ENST00000395016.3_Silent_p.I82I	NM_024021.3	NP_076926.2	Q96JQ5	M4A4A_HUMAN	membrane-spanning 4-domains, subfamily A, member 4A	101						integral to membrane	receptor activity			autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(2)|lung(12)|prostate(1)|skin(4)	23						CCGTGTATATCGGGTACACAA	0.388													T	60064771	C	T	60064771	2	4	768	1	0	0	0	0	0	0	0	1	9938	874	31	1		1	MS4A4A	11	60064771	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	4044693	60064771	74941745	38	57330											
TMEM225	338661	broad.mit.edu	37	chr11	123753867	123753867	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagagcccaggttacgtgaCgtgtttggacttttttgttt	7	16	11	7	2	0	2	0	1	0	1	0	3	0	3	1	2	2	3	1	2	1	6	rs114749572	byFrequency	TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr11:123753867C>T	ENST00000375026.2	-	4	872	c.656G>A	c.(655-657)cGt>cAt	p.R219H		NM_001013743.1	NP_001013765.1	Q6GV28	TM225_HUMAN	transmembrane protein 225	219						integral to membrane				endometrium(2)|kidney(2)|large_intestine(2)|lung(12)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	28						GGTTACGTGACGTGTTTGGAC	0.418													T	123753867	C	T	123753867	3	4	768	1	0	0	0	0	1	0	0	0	16247	536	19	1	25	1	TMEM225	11	123753867	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	63689096	123753867	11252649	39	57331											
RASSF9	9182	broad.mit.edu	37	chr12	86198645	86198645	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaacctcagattccttcgcTctgttttcctttaactggca	7	15	7	12	1	2	1	1	0	1	1	5	2	4	2	3	2	2	3	3	2	2	6			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:86198645T>C	ENST00000361228.3	-	2	1511	c.1143A>G	c.(1141-1143)agA>agG	p.R381R		NM_005447.3	NP_005438.2	O75901	RASF9_HUMAN	Ras association (RalGDS/AF-6) domain family (N-terminal) member 9	381					endosome transport|protein targeting|signal transduction	cytosol|endosome|trans-Golgi network transport vesicle membrane	protein binding|transporter activity			endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						ATTCCTTCGCTCTGTTTTCCT	0.418													C	86198645	T	C	86198645	2	2	768	1	0	0	0	0	0	0	0	1	13181	1548	54	3		3	RASSF9	12	86198645	Silent	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08		86198645	47653250	40	57332											
MRPL42	28977	broad.mit.edu	37	chr12	93881384	93881384	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggaaggacctatgatagaaCaacttagcaaaatgttcttt	16	11	8	6	0	1	2	0	1	1	1	1	4	1	4	1	2	3	2	1	2	8	5			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:93881384C>A	ENST00000549982.1	+	5	492	c.331C>A	c.(331-333)Caa>Aaa	p.Q111K	MRPL42_ENST00000547098.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000393128.4_Missense_Mutation_p.Q111K|MRPL42_ENST00000548545.1_Missense_Mutation_p.Q111K|MRPL42_ENST00000361630.2_Missense_Mutation_p.Q111K|MRPL42_ENST00000552217.1_Missense_Mutation_p.Q111K	NM_014050.3|NM_172177.3	NP_054769.1|NP_751917.1	Q9Y6G3	RM42_HUMAN	mitochondrial ribosomal protein L42	111					translation	mitochondrial small ribosomal subunit	structural constituent of ribosome			breast(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)	7						TATGATAGAACAACTTAGCAA	0.378													A	93881384	C	A	93881384	3	1	768	1	0	0	0	0	1	0	0	0	9882	479	17	4	369	4	MRPL42	12	93881384	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	7682739	93881384	39970511	41	57333											
DTX1	1840	broad.mit.edu	37	chr12	113534718	113534718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagctcacagcccagggcGtatccgaggctgcagccaag	9	5	13	14	2	1	1	1	1	0	0	2	2	2	1	3	2	4	4	3	2	2	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr12:113534718G>A	ENST00000257600.3	+	9	2340	c.1837G>A	c.(1837-1839)Gta>Ata	p.V613I	DTX1_ENST00000547974.1_3'UTR	NM_004416.2	NP_004407.2	Q86Y01	DTX1_HUMAN	deltex homolog 1 (Drosophila)	613					negative regulation of neuron differentiation|Notch signaling pathway|regulation of Notch signaling pathway|transcription from RNA polymerase II promoter	cytoplasm|nucleus	Notch binding|SH3 domain binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(11)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	32						AGCCCAGGGCGTATCCGAGGC	0.632													A	113534718	G	A	113534718	3	1	768	1	0	0	0	0	1	0	0	0	4832	1145	40	1	1871	1	DTX1	12	113534718	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	19653334	113534718	20317177	42	57334											
FLT1	2321	broad.mit.edu	37	chr13	29004260	29004260	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgcttgccagctacggtttCaagcacctgctgttttcgat	6	13	9	13	3	1	0	1	0	0	0	2	1	1	0	3	1	5	6	3	1	2	5			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr13:29004260C>A	ENST00000282397.4	-	8	1284	c.1033G>T	c.(1033-1035)Gaa>Taa	p.E345*	FLT1_ENST00000539099.1_Nonsense_Mutation_p.E345*|FLT1_ENST00000541932.1_Nonsense_Mutation_p.E345*	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	345	Ig-like C2-type 4.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GCTACGGTTTCAAGCACCTGC	0.408													A	29004260	C	A	29004260	4	1	768	1	0	0	0	0	0	1	0	0	5990	835	29	4	3338	4	FLT1	13	29004260	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		29004260	86165618	43	57335											
CYP11A1	1583	broad.mit.edu	37	chr15	74659800	74659800	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	attgaaggggcgaggactgcGggtggagatgccagctccct	8	7	17	9	2	0	2	0	1	0	1	1	5	1	3	2	5	3	1	2	5	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr15:74659800G>A	ENST00000268053.6	-	1	281	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	CYP11A1_ENST00000467407.1_5'UTR|CYP11A1_ENST00000541301.1_Missense_Mutation_p.R43C	NM_000781.2	NP_000772.2	P05108	CP11A_HUMAN	cytochrome P450, family 11, subfamily A, polypeptide 1	43					C21-steroid hormone biosynthetic process|cholesterol metabolic process|vitamin D metabolic process|xenobiotic metabolic process	mitochondrial matrix	cholesterol monooxygenase (side-chain-cleaving) activity|electron carrier activity|heme binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(3)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20					Aminoglutethimide(DB00357)|Cholecalciferol(DB00169)|Cimetidine(DB00501)|Clotrimazole(DB00257)|Digitoxin(DB01396)|Digoxin(DB00390)|Medroxyprogesterone(DB00603)|Ouabain(DB01092)|Progesterone(DB00396)|Testosterone(DB00624)|Trilostane(DB01108)	CGAGGACTGCGGGTGGAGATG	0.617													A	74659800	G	A	74659800	3	1	768	1	0	0	0	0	1	0	0	0	4177	1116	39	1	1474	1	CYP11A1	15	74659800	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		74659800	27871592	44	57336											
RRAD	6236	broad.mit.edu	37	chr16	66956164	66956164	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaggcgtatctggcgcaCgacaccttcaaacagcgcct	9	6	11	15	5	2	0	1	0	1	0	2	1	2	0	2	2	2	3	2	2	2	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:66956164C>T	ENST00000299759.6	-	5	992	c.742G>A	c.(742-744)Gtg>Atg	p.V248M	RRAD_ENST00000420652.1_Missense_Mutation_p.V248M			P55042	RAD_HUMAN	Ras-related associated with diabetes	248					small GTPase mediated signal transduction	plasma membrane	calmodulin binding|GTP binding|GTPase activity			endometrium(2)|kidney(4)|large_intestine(3)|lung(4)|prostate(2)|skin(1)|urinary_tract(1)	17		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		ATCTGGCGCACGACACCTTCA	0.607													T	66956164	C	T	66956164	3	4	768	1	0	0	0	0	1	0	0	0	13762	536	19	1	188	1	RRAD	16	66956164	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		66956164	23398589	45	57337											
PRDM7	11105	broad.mit.edu	37	chr16	90130121	90130121	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgtattcagtaaatttggcGttcctgacaattctctcaaa	11	16	6	8	1	3	1	2	1	1	0	5	1	4	1	1	1	0	3	1	1	5	7			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr16:90130121G>A	ENST00000407825.1	-	0	426				PRDM7_ENST00000449207.2_Missense_Mutation_p.T136M			Q9NQW5	PRDM7_HUMAN	PR domain containing 7							chromosome|nucleus	nucleic acid binding			lung(2)|ovary(2)|stomach(1)	5		all_cancers(9;4.44e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.00118)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		TAAATTTGGCGTTCCTGACAA	0.413													A	90130121	G	A	90130121	1	1	768	1	0	0	0	0	0	0	0	0	12547	1145	40	1		1	PRDM7	16	90130121	Translation_Start_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	23173957	90130121	224632	46	57338											
POLR2A	5430	broad.mit.edu	37	chr17	7405004	7405004	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatacaataacttcaagtctAtggtcgtgtccggagctaaa	14	11	8	8	2	2	0	1	0	1	0	4	1	3	1	1	2	3	1	1	2	8	5			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:7405004A>G	ENST00000322644.6	+	14	2704	c.2305A>G	c.(2305-2307)Atg>Gtg	p.M769V		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	769					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding	p.M769V(1)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CTTCAAGTCTATGGTCGTGTC	0.483													G	7405004	A	G	7405004	3	3	768	1	0	0	0	0	1	0	0	0	12291	449	16	3	2359	3	POLR2A	17	7405004	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08		7405004	73790206	47	57339											
NF1	4763	broad.mit.edu	37	chr17	29586111	29586111	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agaacatatgcggcctttcaAtgattttgtgaaaagcaact	14	12	8	7	1	1	3	1	2	0	1	1	3	1	3	1	1	4	1	1	1	6	4			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr17:29586111A>G	ENST00000358273.4	+	33	4777	c.4394A>G	c.(4393-4395)aAt>aGt	p.N1465S	NF1_ENST00000356175.3_Missense_Mutation_p.N1444S	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1465					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(5)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		CGGCCTTTCAATGATTTTGTG	0.333			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			G	29586111	A	G	29586111	3	3	768	1	0	0	0	0	1	0	0	0	10432	101	4	3	4585	3	NF1	17	29586111	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08	22181107	29586111	51609099	48	57340											
SERPINB10	5273	broad.mit.edu	37	chr18	61602098	61602098	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggccatcacctatgagaaGctgaatgagtggaccagtgc	13	7	12	9	0	1	3	1	3	0	1	1	5	1	4	3	2	2	1	3	2	4	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr18:61602098G>C	ENST00000238508.3	+	8	875	c.816G>C	c.(814-816)aaG>aaC	p.K272N	AC009802.1_ENST00000599868.1_Splice_Site_p.L13V	NM_005024.1	NP_005015.1			serpin peptidase inhibitor, clade B (ovalbumin), member 10											breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(3)|stomach(2)	24		Esophageal squamous(42;0.131)				CCTATGAGAAGCTGAATGAGT	0.443													C	61602098	G	C	61602098	3	2	768	1	0	0	0	0	1	0	0	0	14190	962	34	4	842	4	SERPINB10	18	61602098	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		61602098	16475150	49	57341											
MUC16	94025	broad.mit.edu	37	chr19	9006762	9006762	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatggcaccaggagagggccGgtggctatagtgaaggtggg	10	6	19	6	1	0	2	0	1	0	1	0	3	0	2	2	7	0	2	2	7	4	2			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:9006762G>A	ENST00000397910.4	-	44	39689	c.39486C>T	c.(39484-39486)acC>acT	p.T13162T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	13164					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						GGAGAGGGCCGGTGGCTATAG	0.423													A	9006762	G	A	9006762	2	1	768	1	0	0	0	0	0	0	0	1	10049	1103	39	1		1	MUC16	19	9006762	Silent	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08		9006762	50122221	50	57342											
ZNF681	148213	broad.mit.edu	37	chr19	23938242	23938242	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctcacccaagaagaccaggtTtctgtagttctctaacatca	12	11	6	12	0	4	2	2	0	2	2	5	2	4	2	2	1	1	3	2	1	4	4			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:23938242T>C	ENST00000402377.3	-	2	256	c.115A>G	c.(115-117)Aac>Gac	p.N39D	ZNF681_ENST00000395385.3_Intron	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	39	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				AAGACCAGGTTTCTGTAGTTC	0.348													C	23938242	T	C	23938242	3	2	768	1	0	0	0	0	1	0	0	0	18189	1841	64	3	1834	3	ZNF681	19	23938242	Missense_Mutation	SNP	T	TCGA-TQ-A7RP-01A-21D-A34A-08	14931480	23938242	35190741	51	57343											
COX6B1	1340	broad.mit.edu	37	chr19	36145573	36145573	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	tccctctgccccacatcctgGgtatgtgcctcctgccaggg	4	10	10	17	0	1	0	0	0	1	0	4	0	4	0	7	2	3	1	7	2	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:36145573G>A	ENST00000246554.3	+	3	399	c.207G>A	c.(205-207)tgG>tgA	p.W69*	COX6B1_ENST00000392201.1_Splice_Site_p.W69*|COX6B1_ENST00000592141.1_Splice_Site_p.W69*	NM_001863.4	NP_001854.1	P14854	CX6B1_HUMAN	cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)	69					respiratory electron transport chain	mitochondrial inner membrane|mitochondrial intermembrane space	cytochrome-c oxidase activity			lung(6)|prostate(1)|stomach(1)	8	all_lung(56;2.22e-07)|Lung NSC(56;3.47e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCACATCCTGGGTATGTGCCT	0.602													A	36145573	G	A	36145573	5	1	768	1	0	0	0	0	0	0	1	0	3807	1246	43	2	213	2	COX6B1	19	36145573	Splice_Site	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	12207331	36145573	22983410	52	57344											
LGALS13	29124	broad.mit.edu	37	chr19	40095888	40095888	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagatattgccttccgtttcCgagtgcactttggcaatcat	8	14	8	11	2	1	1	1	0	0	1	3	2	3	1	3	1	2	3	3	1	2	5			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:40095888C>T	ENST00000221797.4	+	3	208	c.163C>T	c.(163-165)Cga>Tga	p.R55*		NM_013268.2	NP_037400.1	Q9UHV8	PP13_HUMAN	lectin, galactoside-binding, soluble, 13	55	Galectin.				lipid catabolic process|phospholipid metabolic process		carboxylesterase activity|lysophospholipase activity|sugar binding			lung(5)|ovary(1)|urinary_tract(1)	7	all_cancers(60;1.77e-05)|all_lung(34;5.38e-08)|Lung NSC(34;6.37e-08)|Ovarian(47;0.116)		Epithelial(26;3.28e-26)|OV - Ovarian serous cystadenocarcinoma(5;7.31e-25)|all cancers(26;1.15e-23)|LUSC - Lung squamous cell carcinoma(53;0.00281)			CTTCCGTTTCCGAGTGCACTT	0.498													T	40095888	C	T	40095888	4	4	768	1	0	0	0	0	0	1	0	0	8799	644	23	1	173	1	LGALS13	19	40095888	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	3950315	40095888	19033095	53	57345											
NLRP5	126206	broad.mit.edu	37	chr19	56552353	56552353	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcagccctcgtcagcaaccGgagcttgacacacctgtgcc	8	7	9	17	2	2	1	2	1	0	0	3	2	2	2	4	1	5	2	4	1	1	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr19:56552353G>A	ENST00000390649.3	+	11	2852	c.2852G>A	c.(2851-2853)cGg>cAg	p.R951Q		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	951						mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		GTCAGCAACCGGAGCTTGACA	0.567													A	56552353	G	A	56552353	3	1	768	1	0	0	0	0	1	0	0	0	10556	1116	39	1	2894	1	NLRP5	19	56552353	Missense_Mutation	SNP	G	TCGA-TQ-A7RP-01A-21D-A34A-08	16456465	56552353	2576630	54	57346											
TMC2	117532	broad.mit.edu	37	chr20	2621836	2621836	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tggacaagaaggcgcagggcCctgggacctccaattctgcc	9	6	13	13	1	1	1	0	0	1	1	2	3	2	3	4	4	1	1	4	4	3	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chr20:2621836C>T	ENST00000358864.1	+	20	2575	c.2560C>T	c.(2560-2562)Cct>Tct	p.P854S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	854						integral to membrane				NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						GGCGCAGGGCCCTGGGACCTC	0.587													T	2621836	C	T	2621836	3	4	768	1	0	0	0	0	1	0	0	0	16085	623	22	2	2638	2	TMC2	20	2621836	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08		2621836	60403684	55	57347											
MXRA5	25878	broad.mit.edu	37	chrX	3240937	3240937	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgggtgggcttttcatagActgtgtctaatgtgtgcaga	8	14	13	6	0	2	2	1	0	1	2	2	2	2	2	0	2	1	2	0	2	2	4			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:3240937A>T	ENST00000217939.6	-	5	2943	c.2789T>A	c.(2788-2790)gTc>gAc	p.V930D		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	930						extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTTTTCATAGACTGTGTCTAA	0.507													T	3240937	A	T	3240937	3	4	768	1	0	0	0	0	1	0	0	0	10079	275	10	5	5709	5	MXRA5	23	3240937	Missense_Mutation	SNP	A	TCGA-TQ-A7RP-01A-21D-A34A-08		3240937	152029623	56	57348											
PHEX	5251	broad.mit.edu	37	chrX	22095783	22095783	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gttcatccgtttgtatgtgtCccctgatgacaaagcatcca	9	13	8	11	1	1	2	1	2	0	0	4	2	4	2	4	0	1	4	4	0	2	3			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:22095783C>A	ENST00000379374.4	+	5	1191	c.626C>A	c.(625-627)tCc>tAc	p.S209Y	PHEX_ENST00000537599.1_Missense_Mutation_p.S209Y|PHEX_ENST00000535894.1_Missense_Mutation_p.S112Y	NM_000444.4	NP_000435.3	P78562	PHEX_HUMAN	phosphate regulating endopeptidase homolog, X-linked	209					biomineral tissue development|cell-cell signaling|protein modification process|proteolysis|skeletal system development	integral to plasma membrane	aminopeptidase activity|metalloendopeptidase activity|zinc ion binding			breast(1)|cervix(2)|endometrium(2)|large_intestine(12)|liver(1)|lung(19)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	42						TTGTATGTGTCCCCTGATGAC	0.453													A	22095783	C	A	22095783	3	1	768	1	0	0	0	0	1	0	0	0	11896	855	30	4	644	4	PHEX	23	22095783	Missense_Mutation	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	18854846	22095783	133174777	57	57349											
DCAF12L2	340578	broad.mit.edu	37	chrX	125298843	125298843	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atgtgctggtagaagctcagCgaccgcacgcctgtgccacc	8	7	12	14	3	1	1	1	0	0	1	1	2	1	1	4	1	4	4	4	1	2	1			TCGA-TQ-A7RP-01A-21D-A34A-08	TCGA-TQ-A7RP-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1e657c6c-2788-4c2f-b9e9-767d234ee760	6fa8561b-e4ad-4ffa-b7b2-14e4cf3dd1ab	g.chrX:125298843C>T	ENST00000538699.1	-	2	1145	c.1065G>A	c.(1063-1065)tcG>tcA	p.S355S	DCAF12L2_ENST00000360028.2_Silent_p.S355S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	355										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						AGAAGCTCAGCGACCGCACGC	0.632													T	125298843	C	T	125298843	2	4	768	1	0	0	0	0	0	0	0	1	4299	755	27	1		1	DCAF12L2	23	125298843	Silent	SNP	C	TCGA-TQ-A7RP-01A-21D-A34A-08	103203060	125298843	29971717	58	57350											
ADAR	103	broad.mit.edu	37	chr1	154600401	154600401	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcggccgcgaccctccccccAccctcccccaccacgtagcc	5	3	7	26	4	0	0	0	0	0	0	2	1	2	0	10	1	1	1	10	1	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:154600401A>C	ENST00000292205.5	-	1	73	c.74T>G	c.(73-75)gTg>gGg	p.V25G	ADAR_ENST00000471068.1_Intron|ADAR_ENST00000368471.3_5'UTR	NM_001025107.2|NM_001193495.1	NP_001020278.1|NP_001180424.1	P55265	DSRAD_HUMAN	adenosine deaminase, RNA-specific	0					adenosine to inosine editing|gene silencing by RNA|mRNA modification|mRNA processing|type I interferon-mediated signaling pathway	cytoplasm|nucleolus|nucleoplasm	DNA binding|double-stranded RNA adenosine deaminase activity|metal ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(4)|prostate(2)|skin(2)	51	all_lung(78;2.22e-29)|Lung NSC(65;3.66e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.0997)		LUSC - Lung squamous cell carcinoma(543;0.185)	Colorectal(1306;0.115)		CCCTCCCCCCACCCTCCCCCA	0.642													C	154600401	A	C	154600401	3	2	769	1	0	0	0	0	1	0	0	0	281	174	6	5		5	ADAR	1	154600401	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		154600401	94650220	1	57351											
IGSF8	93185	broad.mit.edu	37	chr1	160063551	160063551	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcccttttctctgcaatctGggcccagctgccatcaggat	6	11	10	14	0	3	0	1	0	2	0	4	1	3	1	3	3	3	2	3	3	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:160063551G>T	ENST00000368086.1	-	3	1069	c.853C>A	c.(853-855)Cag>Aag	p.Q285K	IGSF8_ENST00000314485.7_Missense_Mutation_p.Q285K|IGSF8_ENST00000460351.1_5'UTR			Q969P0	IGSF8_HUMAN	immunoglobulin superfamily, member 8	285	Ig-like C2-type 2.				cell proliferation|cellular component movement|nervous system development|single fertilization|skeletal muscle tissue development	integral to membrane	protein binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(19)|pancreas(1)|prostate(1)|skin(1)	33	all_cancers(52;1.11e-16)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)|LUSC - Lung squamous cell carcinoma(543;0.246)			TCTGCAATCTGGGCCCAGCTG	0.607													T	160063551	G	T	160063551	3	4	769	1	0	0	0	0	1	0	0	0	7662	1357	47	4	1004	4	IGSF8	1	160063551	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	5463150	160063551	89187070	2	57352											
RNPEP	6051	broad.mit.edu	37	chr1	201958650	201958650	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatctggtttcggctgaagTtggacccaggtaggagacaa	11	9	14	7	1	1	3	0	1	1	2	2	5	1	4	1	5	0	4	1	5	3	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr1:201958650T>C	ENST00000295640.4	+	3	771	c.728T>C	c.(727-729)gTt>gCt	p.V243A	RNPEP_ENST00000471105.1_Intron|RNPEP_ENST00000367286.3_Missense_Mutation_p.V243A	NM_020216.3	NP_064601.3	Q9H4A4	AMPB_HUMAN	arginyl aminopeptidase (aminopeptidase B)	243					leukotriene biosynthetic process		epoxide hydrolase activity|zinc ion binding			breast(1)|endometrium(4)|large_intestine(4)|lung(6)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21				KIRC - Kidney renal clear cell carcinoma(1967;3.23e-08)|Colorectal(1306;0.005)		TCGGCTGAAGTTGGACCCAGG	0.552													C	201958650	T	C	201958650	3	2	769	1	0	0	0	0	1	0	0	0	13600	1725	60	3	738	3	RNPEP	1	201958650	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	41895099	201958650	47291971	3	57353											
ACP1	52	broad.mit.edu	37	chr2	277249	277249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaatgactctgactttgagaCggtgtaccagcagtgtgtca	10	11	12	8	1	2	3	1	3	1	1	2	5	2	3	1	1	2	2	1	1	2	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:277249C>T	ENST00000272067.6	+	6	518	c.422C>T	c.(421-423)aCg>aTg	p.T141M	ACP1_ENST00000272065.5_Missense_Mutation_p.T141M|ACP1_ENST00000484464.1_3'UTR	NM_007099.3	NP_009030.1	P24666	PPAC_HUMAN	acid phosphatase 1, soluble	141						cytoplasm|internal side of plasma membrane|nucleus|soluble fraction	acid phosphatase activity|identical protein binding|non-membrane spanning protein tyrosine phosphatase activity			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)|skin(1)	12	all_hematologic(175;0.0429)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.00175)|Lung NSC(108;0.216)|all_epithelial(98;0.236)		all cancers(51;0.000391)|Epithelial(75;0.00281)|OV - Ovarian serous cystadenocarcinoma(76;0.00542)|GBM - Glioblastoma multiforme(21;0.127)		GACTTTGAGACGGTGTACCAG	0.498													T	277249	C	T	277249	3	4	769	1	0	0	0	0	1	0	0	0	162	536	19	1	599	1	ACP1	2	277249	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		277249	242922124	4	57354											
AFTPH	54812	broad.mit.edu	37	chr2	64778672	64778674	+	In_Frame_Del	DEL	GAT	GAT	-																															cattagacaatggagcagagGatgatgatgatgatgaattt																										TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:64778672_64778674delGAT	ENST00000422803.1	+	2	378_380	c.64_66delGAT	c.(64-66)gatdel	p.D26del	AFTPH_ENST00000409933.1_In_Frame_Del_p.D26del|AFTPH_ENST00000238855.7_In_Frame_Del_p.D26del|AFTPH_ENST00000238856.4_In_Frame_Del_p.D26del			Q6ULP2	AFTIN_HUMAN	aftiphilin	26					protein transport	AP-1 adaptor complex|cytosol|nucleus	clathrin binding			breast(3)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(11)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	35						TGGAGCAGAGGATGATGATGATG	0.409													-	64778674	GAT	-	64778672	7	5	769	1	0	1	0	1	0	0	0	0	364	1174	41	0	66	0	AFTPH	2	64778672	In_Frame_Del	DEL	GAT	TCGA-TQ-A7RQ-01A-11D-A33T-08	64501423	64778672	178420701	5	57355											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	769	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	144334440	209113112	34086261	6	57356											
CAB39	51719	broad.mit.edu	37	chr2	231682512	231682512	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagacacaacttcacaattaTgacaaaatacatcagtaaac	20	9	3	9	0	2	2	2	1	0	1	2	2	2	2	0	0	3	1	0	0	9	5			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr2:231682512T>C	ENST00000258418.5	+	8	1166	c.737T>C	c.(736-738)aTg>aCg	p.M246T	CAB39_ENST00000409788.3_Missense_Mutation_p.M246T|CAB39_ENST00000410084.3_Missense_Mutation_p.M246T	NM_016289.3	NP_057373.1	Q9Y376	CAB39_HUMAN	calcium binding protein 39	246					cell cycle arrest|insulin receptor signaling pathway|regulation of fatty acid oxidation	cytosol	kinase binding			central_nervous_system(1)|large_intestine(1)|skin(1)	3		all_lung(227;4.63e-07)|all_hematologic(139;1.83e-06)|Lung NSC(271;2.11e-05)|Acute lymphoblastic leukemia(138;5.51e-05)|Hepatocellular(293;0.0207)|Lung SC(224;0.187)		all cancers(144;1.64e-12)|Epithelial(121;5.29e-11)|LUSC - Lung squamous cell carcinoma(224;0.0154)|Lung(119;0.0177)|COAD - Colon adenocarcinoma(134;0.226)		TTCACAATTATGACAAAATAC	0.343													C	231682512	T	C	231682512	3	2	769	1	0	0	0	0	1	0	0	0	2551	1464	51	3	763	3	CAB39	2	231682512	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	22569400	231682512	11516861	7	57357											
LYZL4	131375	broad.mit.edu	37	chr3	42448742	42448742	+	Translation_Start_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agagaaccacggatgccttcAtcttctccaggctcctggca	9	9	9	14	1	3	1	1	0	2	1	5	3	4	2	4	3	2	2	4	3	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr3:42448742A>G	ENST00000287748.3	-	2	277	c.2T>C	c.(1-3)aTg>aCg	p.M1T	LYZL4_ENST00000470991.1_Intron|LYZL4_ENST00000441172.1_Start_Codon_SNP_p.M1T	NM_144634.2	NP_653235.1	Q96KX0	LYZL4_HUMAN	lysozyme-like 4	1					cell wall macromolecule catabolic process	extracellular region	lysozyme activity			central_nervous_system(1)|endometrium(1)|lung(1)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		GGATGCCTTCATCTTCTCCAG	0.572													G	42448742	A	G	42448742	1	3	769	1	0	0	0	0	0	0	0	0	9204	217	8	3		3	LYZL4	3	42448742	Translation_Start_Site	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		42448742	155573688	8	57358											
SEC22C	9117	broad.mit.edu	37	chr3	42594904	42594904	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cagcataagcaccaccttcaTagtcctggctggactgtaga	11	9	9	12	0	1	1	1	0	0	1	2	2	2	2	3	2	2	4	3	2	3	4			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr3:42594904T>C	ENST00000264454.3	-	7	891	c.748A>G	c.(748-750)Atg>Gtg	p.M250V	SEC22C_ENST00000417572.1_Intron|SEC22C_ENST00000273156.7_Intron|SEC22C_ENST00000423701.2_Intron|SEC22C_ENST00000536332.1_Intron			Q9BRL7	SC22C_HUMAN	SEC22 vesicle trafficking protein homolog C (S. cerevisiae)	250					ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|integral to membrane				endometrium(1)|large_intestine(2)	3				KIRC - Kidney renal clear cell carcinoma(284;0.222)		ACCACCTTCATAGTCCTGGCT	0.448													C	42594904	T	C	42594904	3	2	769	1	0	0	0	0	1	0	0	0	14083	1406	49	3	213	3	SEC22C	3	42594904	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	146162	42594904	155427526	9	57359											
LRBA	987	broad.mit.edu	37	chr4	151792590	151792590	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aacaatccatgtccaagcatGacttctgctttcctcctgca	10	12	5	14	0	1	1	0	1	1	0	5	1	5	1	4	0	4	3	4	0	3	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr4:151792590G>A	ENST00000535741.1	-	19	2747	c.2274C>T	c.(2272-2274)gtC>gtT	p.V758V	LRBA_ENST00000357115.3_Silent_p.V758V|LRBA_ENST00000510413.1_Silent_p.V758V|LRBA_ENST00000507224.1_Silent_p.V758V			P50851	LRBA_HUMAN	LPS-responsive vesicle trafficking, beach and anchor containing	758						endoplasmic reticulum|Golgi apparatus|integral to membrane|lysosome|plasma membrane	protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(20)|lung(32)|ovary(4)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	91	all_hematologic(180;0.151)					GTCCAAGCATGACTTCTGCTT	0.373													A	151792590	G	A	151792590	2	1	769	1	0	0	0	0	0	0	0	1	9001	1277	45	2		2	LRBA	4	151792590	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		151792590	39361686	10	57360											
AHRR	57491	broad.mit.edu	37	chr5	428114	428114	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacaccgcagccaccgcgGatgcaaagtgagtaagactc	13	4	11	13	3	0	3	0	1	0	2	1	4	0	4	3	1	2	3	3	1	2	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:428114G>T	ENST00000316418.5	+	9	1011	c.967G>T	c.(967-969)Gat>Tat	p.D323Y	AHRR_ENST00000506456.1_Missense_Mutation_p.D161Y|AHRR_ENST00000505113.1_Missense_Mutation_p.D305Y|AHRR_ENST00000512529.1_Missense_Mutation_p.D151Y	NM_020731.4	NP_065782.2	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	305					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			AGCCACCGCGGATGCAAAGTG	0.587													T	428114	G	T	428114	3	4	769	1	0	0	0	0	1	0	0	0	417	1174	41	4	1001	4	AHRR	5	428114	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		428114	180487146	11	57361											
SLC12A2	6558	broad.mit.edu	37	chr5	127520188	127520188	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgagcttgaactttataagAccaaggtattctcttctgct	11	15	7	8	0	2	3	0	2	2	1	3	3	2	3	1	1	3	3	1	1	5	7			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:127520188A>C	ENST00000262461.2	+	25	3619	c.3430A>C	c.(3430-3432)Acc>Ccc	p.T1144P	SLC12A2_ENST00000343225.4_Missense_Mutation_p.T1128P|SLC12A2_ENST00000507791.1_3'UTR	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	1144					potassium ion transport|sodium ion transport|transepithelial ammonium transport|transepithelial chloride transport	integral to plasma membrane|membrane fraction	ammonia transmembrane transporter activity|sodium:potassium:chloride symporter activity			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)	ACTTTATAAGACCAAGGTATT	0.303													C	127520188	A	C	127520188	3	2	769	1	0	0	0	0	1	0	0	0	14477	275	10	5	3528	5	SLC12A2	5	127520188	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	127092074	127520188	53395072	12	57362											
SPINK9	643394	broad.mit.edu	37	chr5	147715192	147715192	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtactatgagagcaacagccAtagtcctactcttggctctg	10	11	9	11	0	2	1	0	1	2	1	3	2	3	1	2	1	5	3	2	1	5	5			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr5:147715192A>G	ENST00000377906.1	+	1	71	c.16A>G	c.(16-18)Ata>Gta	p.I6V	RP11-373N22.3_ENST00000501695.3_RNA|SPINK9_ENST00000511717.2_Intron	NM_001040433.1	NP_001035523.1	Q5DT21	ISK9_HUMAN	serine peptidase inhibitor, Kazal type 9	6						extracellular region	protein binding|serine-type endopeptidase inhibitor activity			ovary(1)|urinary_tract(1)	2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCAACAGCCATAGTCCTACT	0.478													G	147715192	A	G	147715192	3	3	769	1	0	0	0	0	1	0	0	0	15162	217	8	3	18	3	SPINK9	5	147715192	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	20195004	147715192	33200068	13	57363											
GFOD1	54438	broad.mit.edu	37	chr6	13365582	13365582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggaccttgacggccttttggCcggtgaggaaggtgagcagg	7	8	18	8	2	0	3	0	3	0	0	0	5	0	5	3	7	1	1	3	7	1	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:13365582C>T	ENST00000379287.3	-	2	1230	c.566G>A	c.(565-567)gGc>gAc	p.G189D	GFOD1_ENST00000379284.1_Missense_Mutation_p.G86D	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	189						extracellular region	binding|oxidoreductase activity			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			GGCCTTTTGGCCGGTGAGGAA	0.602													T	13365582	C	T	13365582	3	4	769	1	0	0	0	0	1	0	0	0	6399	739	26	2	610	2	GFOD1	6	13365582	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		13365582	157749485	14	57364											
ITPR3	3710	broad.mit.edu	37	chr6	33656147	33656147	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagcagggcagcaaagtgagCgacttcttcgaccagtcctc	10	7	12	12	2	1	1	0	1	1	0	4	4	2	1	2	1	3	3	2	1	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:33656147C>T	ENST00000374316.5	+	49	7567	c.6507C>T	c.(6505-6507)agC>agT	p.S2169S	ITPR3_ENST00000605930.1_Silent_p.S2169S			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	2169					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						GCAAAGTGAGCGACTTCTTCG	0.632													T	33656147	C	T	33656147	2	4	769	1	0	0	0	0	0	0	0	1	7980	767	27	1		1	ITPR3	6	33656147	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	20290565	33656147	137458920	15	57365											
DNAH8	1769	broad.mit.edu	37	chr6	38891794	38891794	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgatattctgctgtgcacGggattcctttcctaccttgg	5	15	11	10	1	1	1	0	1	1	0	3	2	3	2	3	3	3	2	3	3	2	6	rs79890174	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:38891794G>A	ENST00000359357.3	+	71	10421	c.10167G>A	c.(10165-10167)acG>acA	p.T3389T	RP1-207H1.3_ENST00000416948.1_RNA|RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Silent_p.T3353T|DNAH8_ENST00000449981.2_Silent_p.T3606T					dynein, axonemal, heavy chain 8											NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TGCTGTGCACGGGATTCCTTT	0.423													A	38891794	G	A	38891794	2	1	769	1	0	0	0	0	0	0	0	1	4646	1103	39	1		1	DNAH8	6	38891794	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	5235647	38891794	132223273	16	57366											
ZNF292	23036	broad.mit.edu	37	chr6	87968903	87968903	+	Frame_Shift_Del	DEL	C	C	-																															aaattaaaattagaaaatgaCctatccactccagcatccca																										TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr6:87968903delC	ENST00000369577.3	+	8	5599	c.5556delC	c.(5554-5556)gacfs	p.D1852fs	ZNF292_ENST00000339907.4_Frame_Shift_Del_p.D1847fs	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	1852					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TAGAAAATGACCTATCCACTC	0.378													-	87968903	C	-	87968903	7	5	769	1	0	1	0	1	0	0	0	0	17927	506	18	0	5586	0	ZNF292	6	87968903	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	49077109	87968903	83146164	17	57367											
FLNC	2318	broad.mit.edu	37	chr7	128478760	128478760	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtgacagcacgttccgctgCacatacagacctgccatgga	10	7	11	13	2	0	2	0	1	0	1	1	3	1	3	3	2	4	4	3	2	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr7:128478760C>T	ENST00000325888.8	+	8	1575	c.1314C>T	c.(1312-1314)tgC>tgT	p.C438C	FLNC_ENST00000346177.6_Silent_p.C438C	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	438					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CGTTCCGCTGCACATACAGAC	0.642													T	128478760	C	T	128478760	2	4	769	1	0	0	0	0	0	0	0	1	5984	718	25	2		2	FLNC	7	128478760	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		128478760	30659903	18	57368											
WRN	7486	broad.mit.edu	37	chr8	30945377	30945379	+	In_Frame_Del	DEL	AAG	AAG	-																															aaatctgggtcttcctactaAagaagaagaagaagatgatg																										TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:30945377_30945379delAAG	ENST00000298139.5	+	12	1766_1768	c.1517_1519delAAG	c.(1516-1521)aaagaa>aaa	p.E510del		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	510	Poly-Glu.				base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CTTCCTACTAaagaagaagaaga	0.36			"Mis, N, F, S"			"osteosarcoma, meningioma, others"		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome				-	30945379	AAG	-	30945377	7	5	769	1	0	1	0	1	0	0	0	0	17504	14	1	0	1559	0	WRN	8	30945377	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RQ-01A-11D-A33T-08		30945377	115418645	19	57369											
ARHGAP39	80728	broad.mit.edu	37	chr8	145763155	145763155	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctttctcaatttggacttcTtcttagtgtttctttccagg	5	21	6	9	0	5	0	1	0	5	0	7	1	6	1	1	2	0	1	1	2	2	7			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr8:145763155T>C	ENST00000377307.2	-	6	2648	c.2564A>G	c.(2563-2565)aAg>aGg	p.K855R	ARHGAP39_ENST00000528810.1_5'UTR|ARHGAP39_ENST00000276826.5_Intron|ARHGAP39_ENST00000540274.1_Intron	NM_025251.1	NP_079527.1	Q9C0H5	RHG39_HUMAN	Rho GTPase activating protein 39	840	MyTH4.				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytoskeleton|cytosol|nucleus	GTPase activator activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	22						TTTGGACTTCTTCTTAGTGTT	0.547													C	145763155	T	C	145763155	3	2	769	1	0	0	0	0	1	0	0	0	887	1609	56	3	804	3	ARHGAP39	8	145763155	Missense_Mutation	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08	114817778	145763155	600867	20	57370											
TECTB	6975	broad.mit.edu	37	chr10	114057887	114057887	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	agagatcacagggcaaccttCcaattcaatgctttccggtt	11	11	8	11	1	2	1	2	0	0	1	4	2	4	1	3	2	2	3	3	2	3	4			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr10:114057887C>T	ENST00000369422.3	+	7	732	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_058222.1	NP_478129.1	Q96PL2	TECTB_HUMAN	tectorin beta	244	ZP.					anchored to membrane|plasma membrane|proteinaceous extracellular matrix				kidney(2)|large_intestine(3)|lung(9)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	19		Colorectal(252;0.198)		Epithelial(162;0.0143)|all cancers(201;0.0242)		GGGCAACCTTCCAATTCAATG	0.522													T	114057887	C	T	114057887	2	4	769	1	0	0	0	0	0	0	0	1	15848	854	30	2		2	TECTB	10	114057887	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		114057887	21476860	21	57371											
CREBZF	58487	broad.mit.edu	37	chr11	85375402	85375402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cactgtcactgctgctgctgCagcctccgataccgtttaac	7	11	8	15	2	1	0	1	0	0	0	2	1	2	0	3	0	7	5	3	0	2	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr11:85375402C>A	ENST00000527447.1	-	1	744	c.518G>T	c.(517-519)tGc>tTc	p.C173F	CREBZF_ENST00000534224.1_Intron|CREBZF_ENST00000531515.1_Intron|CREBZF_ENST00000398294.2_Missense_Mutation_p.C91F	NM_001039618.2	NP_001034707.1	Q9NS37	ZHANG_HUMAN	CREB/ATF bZIP transcription factor	173					negative regulation of gene expression, epigenetic|negative regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|response to virus	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	9		Acute lymphoblastic leukemia(157;4.19e-06)|all_hematologic(158;0.0033)				gctgctgctgcagcctccgat	0.642											OREG0021274	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	85375402	C	A	85375402	3	1	769	1	0	0	0	0	1	0	0	0	3894	710	25	4	550	4	CREBZF	11	85375402	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		85375402	49631114	22	57372											
LCP1	3936	broad.mit.edu	37	chr13	46718596	46718596	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctgtacaaatgattgactcGagggttaacacccagggagt	12	9	11	9	1	0	2	0	2	0	0	1	4	0	3	2	2	2	2	2	2	3	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr13:46718596G>A	ENST00000398576.2	-	14	1622	c.1234C>T	c.(1234-1236)Cga>Tga	p.R412*	LCP1_ENST00000323076.2_Nonsense_Mutation_p.R412*			P13796	PLSL_HUMAN	lymphocyte cytosolic protein 1 (L-plastin)	412	Actin-binding 2.|CH 3.				regulation of intracellular protein transport|T cell activation involved in immune response	cell junction|cytosol|ruffle membrane	calcium ion binding			breast(2)|kidney(1)|large_intestine(6)|lung(18)|ovary(4)|prostate(2)|skin(1)	34		Lung NSC(96;1.27e-05)|Breast(56;8.04e-05)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.39e-05)		TGATTGACTCGAGGGTTAACA	0.418			T	BCL6	NHL								A	46718596	G	A	46718596	4	1	769	1	0	0	0	0	0	1	0	0	8750	1066	37	1	673	1	LCP1	13	46718596	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		46718596	68451282	23	57373											
ITPK1	3705	broad.mit.edu	37	chr14	93483148	93483148	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggccggctaaggttcagcTgtgaggcagggaacacagac	10	6	15	10	2	1	2	1	1	0	1	2	3	1	3	1	5	2	4	1	5	2	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr14:93483148T>C	ENST00000267615.6	-	4	294		c.e4-2		ITPK1_ENST00000555495.1_Splice_Site|ITPK1_ENST00000354313.3_Splice_Site|ITPK1_ENST00000556603.2_Splice_Site|ITPK1_ENST00000556954.1_Splice_Site			Q13572	ITPK1_HUMAN	inositol-tetrakisphosphate 1-kinase						blood coagulation|inositol trisphosphate metabolic process|signal transduction	cytosol	ATP binding|hydrolase activity|inositol tetrakisphosphate 1-kinase activity|inositol-1,3,4-trisphosphate 5/6-kinase activity|isomerase activity|ligase activity|magnesium ion binding	p.?(2)		endometrium(1)|large_intestine(3)|lung(6)|ovary(1)	11		all_cancers(154;0.077)|all_epithelial(191;0.247)		Epithelial(152;0.124)|all cancers(159;0.169)		AAGGTTCAGCTGTGAGGCAGG	0.577													C	93483148	T	C	93483148	5	2	769	1	0	0	0	0	0	0	1	0	7974	1594	55	3	1205	3	ITPK1	14	93483148	Splice_Site	SNP	T	TCGA-TQ-A7RQ-01A-11D-A33T-08		93483148	13866392	24	57374											
RYR3	6263	broad.mit.edu	37	chr15	33840366	33840366	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agctgggggagctgggactcGagccaggtctctttggagag	7	8	18	8	1	1	1	0	0	1	1	3	5	1	3	1	5	3	2	1	5	0	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:33840366G>A	ENST00000389232.4	+	9	846	c.776G>A	c.(775-777)cGa>cAa	p.R259Q	RYR3_ENST00000415757.3_Missense_Mutation_p.R259Q	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	259	MIR 3.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GCTGGGACTCGAGCCAGGTCT	0.512													A	33840366	G	A	33840366	3	1	769	1	0	0	0	0	1	0	0	0	13861	1058	37	1	810	1	RYR3	15	33840366	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		33840366	68691026	25	57375											
EIF2AK4	440275	broad.mit.edu	37	chr15	40257951	40257951	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acagccactggtggctttgtCttgttgtatgagtgggtcct	5	15	13	8	0	1	1	0	1	1	0	2	1	2	1	2	3	1	3	2	3	1	4			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr15:40257951C>T	ENST00000263791.5	+	8	967	c.924C>T	c.(922-924)gtC>gtT	p.V308V	EIF2AK4_ENST00000382727.2_Silent_p.V308V|EIF2AK4_ENST00000559624.1_Silent_p.V308V	NM_001013703.2	NP_001013725.2	Q9P2K8	E2AK4_HUMAN	eukaryotic translation initiation factor 2 alpha kinase 4	308	Protein kinase 1.				translation	cytosolic ribosome	aminoacyl-tRNA ligase activity|ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(1)|kidney(3)|large_intestine(8)|lung(18)|ovary(1)|prostate(3)|skin(2)|stomach(1)	40		all_cancers(109;1.05e-19)|all_epithelial(112;4.38e-17)|Lung NSC(122;1.09e-12)|all_lung(180;3.56e-11)|Melanoma(134;0.0575)|Ovarian(310;0.0826)|Colorectal(260;0.119)		GBM - Glioblastoma multiforme(113;5.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0616)		GTGGCTTTGTCTTGTTGTATG	0.398													T	40257951	C	T	40257951	2	4	769	1	0	0	0	0	0	0	0	1	5038	900	32	2		2	EIF2AK4	15	40257951	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	6417585	40257951	62273441	26	57376											
ELMO3	79767	broad.mit.edu	37	chr16	67235520	67235520	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gctgctggagccgcgcatgcGgacgcccctggacccctaca	6	5	13	17	4	0	0	0	0	0	0	0	3	0	3	5	3	4	3	5	3	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr16:67235520G>A	ENST00000393997.2	+	10	1109	c.1052G>A	c.(1051-1053)cGg>cAg	p.R351Q	ELMO3_ENST00000360833.1_Missense_Mutation_p.R334Q|ELMO3_ENST00000477898.1_Missense_Mutation_p.R185Q	NM_024712.3	NP_078988.2	Q96BJ8	ELMO3_HUMAN	engulfment and cell motility 3	298	ELMO.				apoptosis|phagocytosis	cytoplasm|cytoskeleton	SH3 domain binding	p.R351Q(2)		cervix(2)|kidney(4)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(3)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.00067)|Epithelial(162;0.00442)|all cancers(182;0.0417)		CCGCGCATGCGGACGCCCCTG	0.587													A	67235520	G	A	67235520	3	1	769	1	0	0	0	0	1	0	0	0	5108	1116	39	1	1090	1	ELMO3	16	67235520	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		67235520	23119233	27	57377											
RNF135	84282	broad.mit.edu	37	chr17	29325786	29325786	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cgcccacaaccctatcgctgGagctgtgagaggttttctac	8	10	10	13	2	1	1	0	1	1	1	2	3	1	2	2	2	3	3	2	2	3	4			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:29325786G>A	ENST00000328381.5	+	5	1749	c.876G>A	c.(874-876)tgG>tgA	p.W292*	RNF135_ENST00000443677.2_3'UTR|RNF135_ENST00000535306.2_3'UTR|RNF135_ENST00000324689.4_3'UTR	NM_032322.3	NP_115698.3	Q8IUD6	RN135_HUMAN	ring finger protein 135	292	B30.2/SPRY.				innate immune response|negative regulation of type I interferon production|positive regulation of interferon-beta production|regulation of innate immune response	cytosol	protein binding|ribonucleoprotein binding|ubiquitin-protein ligase activity|zinc ion binding	p.?(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(1)|skin(2)|urinary_tract(1)	10		all_cancers(10;8.65e-08)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Myeloproliferative disorder(56;0.0255)				CCTATCGCTGGAGCTGTGAGA	0.532													A	29325786	G	A	29325786	4	1	769	1	0	0	0	0	0	1	0	0	13531	1183	41	2	963	2	RNF135	17	29325786	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08		29325786	51869424	28	57378											
IKZF3	22806	broad.mit.edu	37	chr17	37922280	37922280	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagtctcttgggcagatgggCgggggcttgaggagttcgta	6	10	19	6	2	1	2	0	1	1	1	3	4	1	3	0	5	0	4	0	5	1	4			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr17:37922280C>T	ENST00000346872.3	-	8	1354	c.1293G>A	c.(1291-1293)ccG>ccA	p.P431P	IKZF3_ENST00000394189.2_Silent_p.P249P|IKZF3_ENST00000377958.2_Silent_p.P344P|IKZF3_ENST00000535189.1_Silent_p.P397P|IKZF3_ENST00000351680.3_Silent_p.P392P|IKZF3_ENST00000583368.1_Silent_p.P184P|IKZF3_ENST00000350532.3_Silent_p.P392P|IKZF3_ENST00000377952.2_Silent_p.P210P|IKZF3_ENST00000377944.3_Silent_p.P288P|IKZF3_ENST00000439016.2_Silent_p.P336P|IKZF3_ENST00000377945.3_Silent_p.P297P|IKZF3_ENST00000467757.1_Silent_p.P375P|IKZF3_ENST00000439167.2_Silent_p.P358P|IKZF3_ENST00000346243.3_Silent_p.P353P	NM_012481.4	NP_036613.2	Q9UKT9	IKZF3_HUMAN	IKAROS family zinc finger 3 (Aiolos)	431					B cell activation|mesoderm development|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(6)|large_intestine(4)|liver(1)|lung(13)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	42	Breast(7;4.5e-103)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|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)			GGCAGATGGGCGGGGGCTTGA	0.552													T	37922280	C	T	37922280	2	4	769	1	0	0	0	0	0	0	0	1	7674	755	27	1		1	IKZF3	17	37922280	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	8596494	37922280	43272930	29	57379											
MIER2	54531	broad.mit.edu	37	chr19	313566	313566	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgccaacgccgcttcaccgCcctgtacaggaactcctcca	8	7	8	18	3	1	0	1	0	0	0	3	1	3	1	6	1	4	2	6	1	3	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:313566C>T	ENST00000264819.4	-	8	743	c.733G>A	c.(733-735)Gcg>Acg	p.A245T		NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	245	ELM2.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		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)		CGCTTCACCGCCCTGTACAGG	0.637													T	313566	C	T	313566	3	4	769	1	0	0	0	0	1	0	0	0	9656	739	26	2	932	2	MIER2	19	313566	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08		313566	58815417	30	57380											
MYO1F	4542	broad.mit.edu	37	chr19	8587611	8587611	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tgctggctcccagggatgtgGacggagggccccggggaggc	5	5	20	11	2	0	0	0	0	0	0	1	4	1	4	3	8	1	2	3	8	0	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:8587611G>A	ENST00000338257.8	-	26	3224	c.2957C>T	c.(2956-2958)tCc>tTc	p.S986F		NM_012335.3	NP_036467.2	O00160	MYO1F_HUMAN	myosin IF	986				IMSGGGTHRPPRGPPSTSLG -> KFIWPRGHPQASPALRP HPWD (in Ref. 5; CAA67058).		unconventional myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(7)|lung(13)|ovary(3)|prostate(3)|skin(3)|urinary_tract(1)	42						CAGGGATGTGGACGGAGGGCC	0.687													A	8587611	G	A	8587611	3	1	769	1	0	0	0	0	1	0	0	0	10149	1174	41	2	351	2	MYO1F	19	8587611	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	8274045	8587611	50541372	31	57381											
DOCK6	57572	broad.mit.edu	37	chr19	11352784	11352784	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccagaatctccttggtgggcCggcccctggggtccgggtag	4	8	16	13	2	1	1	0	0	1	1	3	1	2	1	6	6	0	1	6	6	2	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:11352784C>T	ENST00000294618.7	-	14	1591	c.1580G>A	c.(1579-1581)cGg>cAg	p.R527Q		NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6	527					blood coagulation	cytosol	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						CTTGGTGGGCCGGCCCCTGGG	0.622													T	11352784	C	T	11352784	3	4	769	1	0	0	0	0	1	0	0	0	4730	652	23	1	4703	1	DOCK6	19	11352784	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	2765173	11352784	47776199	32	57382											
ZNF254	9534	broad.mit.edu	37	chr19	24310731	24310731	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaagcctttaatcggtcctcGcacctcaccacagataagat	13	9	6	13	2	1	2	1	0	0	2	4	2	2	2	4	1	1	1	4	1	3	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:24310731G>A	ENST00000357002.4	+	4	2044	c.1929G>A	c.(1927-1929)tcG>tcA	p.S643S	ZNF254_ENST00000342944.6_Silent_p.S558S	NM_001278661.1|NM_001278662.1|NM_001278664.1|NM_001278677.1|NM_001278678.1|NM_203282.2	NP_001265590.1|NP_001265591.1|NP_001265593.1|NP_001265606.1|NP_001265607.1|NP_975011.3	O75437	ZN254_HUMAN	zinc finger protein 254	643					negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding						all_cancers(12;0.086)|all_lung(12;0.00528)|Lung NSC(12;0.00731)|all_epithelial(12;0.0186)				ATCGGTCCTCGCACCTCACCA	0.373													A	24310731	G	A	24310731	2	1	769	1	0	0	0	0	0	0	0	1	17899	1074	38	1		1	ZNF254	19	24310731	Silent	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	12957947	24310731	34818252	33	57383											
CIC	23152	broad.mit.edu	37	chr19	42795426	42795450	+	Frame_Shift_Del	DEL	CTTCAGGTGGCACCTGCCCCAGCAC	CTTCAGGTGGCACCTGCCCCAGCAC	-																															tgcccacgctgccccagcagCttcaggtggcacctgcccca																										TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chr19:42795426_42795450delCTTCAGGTGGCACCTGCCCCAGCAC	ENST00000572681.2	+	11	5301_5325	c.5233_5257delCTTCAGGTGGCACCTGCCCCAGCAC	c.(5233-5259)cttcaggtggcacctgccccagcaccafs	p.LQVAPAPAP1745fs	CIC_ENST00000575354.2_Frame_Shift_Del_p.LQVAPAPAP836fs|CIC_ENST00000160740.3_Frame_Shift_Del_p.LQVAPAPAP836fs			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	836					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GCCCCAGCAGCTTCAGGTGGCACCTGCCCCAGCACCAGCCCCTGG	0.667			"Mis, F, S"		oligodendroglioma								-	42795450	CTTCAGGTGGCACCTGCCCCAGCAC	-	42795426	7	5	769	1	0	1	0	1	0	0	0	0	3454	797	28	0	2544	0	CIC	19	42795426	Frame_Shift_Del	DEL	CTTCAGGTGGCACCTGCCCCAGCAC	TCGA-TQ-A7RQ-01A-11D-A33T-08	18484695	42795426	16333557	34	57384											
ASB9	140462	broad.mit.edu	37	chrX	15268608	15268608	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttcacaagccaaatagAgtggagtgcccaggtggctg	10	9	14	8	0	1	1	1	0	0	1	1	2	1	2	2	4	2	2	2	4	3	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:15268608A>T	ENST00000546332.1	-	6	995	c.512T>A	c.(511-513)cTc>cAc	p.L171H	ASB9_ENST00000380485.3_Missense_Mutation_p.L171H|ASB9_ENST00000473862.1_5'UTR|ASB9_ENST00000380488.4_Missense_Mutation_p.L171H|ASB9_ENST00000380483.3_Missense_Mutation_p.L161H	NM_001168531.1	NP_001162003.1	Q96DX5	ASB9_HUMAN	ankyrin repeat and SOCS box containing 9	171					intracellular signal transduction					breast(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(10)	15	Hepatocellular(33;0.183)					AGCCAAATAGAGTGGAGTGCC	0.458													T	15268608	A	T	15268608	3	4	769	1	0	0	0	0	1	0	0	0	1035	304	11	5	413	5	ASB9	23	15268608	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08		15268608	140001952	35	57385											
BCOR	54880	broad.mit.edu	37	chrX	39922919	39922919	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcttctgttgcctttggcCtctgcccttttcctgccagg	2	15	9	15	0	2	0	0	0	2	0	3	0	3	0	5	2	4	2	5	2	0	5			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:39922919C>A	ENST00000342274.4	-	8	4049	c.3687G>T	c.(3685-3687)gaG>gaT	p.E1229D	BCOR_ENST00000378444.4_Missense_Mutation_p.E1263D|BCOR_ENST00000378455.4_Missense_Mutation_p.E1211D|BCOR_ENST00000397354.3_Missense_Mutation_p.E1229D|BCOR_ENST00000378463.1_Missense_Mutation_p.E106D	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1263					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						TGCCTTTGGCCTCTGCCCTTT	0.567			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39922919	C	A	39922919	3	1	769	1	0	0	0	0	1	0	0	0	1391	680	24	4	1510	4	BCOR	23	39922919	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	24654311	39922919	115347641	36	57386											
USP11	8237	broad.mit.edu	37	chrX	47099838	47099838	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cggttctcgatgcggcccttGagactgggcaggtaagggtg	6	9	17	9	3	1	1	0	1	1	1	2	3	1	1	1	5	1	3	1	5	1	3			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:47099838G>A	ENST00000377107.2	+	5	1024	c.670G>A	c.(670-672)Gag>Aag	p.E224K	USP11_ENST00000218348.3_Missense_Mutation_p.E267K			P51784	UBP11_HUMAN	ubiquitin specific peptidase 11	267					protein deubiquitination|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(14)|ovary(3)|pancreas(1)|stomach(1)	40						TGCGGCCCTTGAGACTGGGCA	0.557													A	47099838	G	A	47099838	3	1	769	1	0	0	0	0	1	0	0	0	17144	1291	45	2	817	2	USP11	23	47099838	Missense_Mutation	SNP	G	TCGA-TQ-A7RQ-01A-11D-A33T-08	7176919	47099838	108170722	37	57387											
CDX4	1046	broad.mit.edu	37	chrX	72667179	72667179	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacggcacagctgggacaggCggcacagggggcggtgggag	8	2	22	9	3	0	0	0	0	0	0	0	3	0	2	0	8	1	3	0	8	0	0			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:72667179C>T	ENST00000373514.2	+	1	90	c.90C>T	c.(88-90)ggC>ggT	p.G30G		NM_005193.1	NP_005184.1	O14627	CDX4_HUMAN	caudal type homeobox 4	30						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(4)|kidney(1)|large_intestine(1)|lung(11)|skin(1)	18	Renal(35;0.156)					CTGGGACAGGCGGCACAGGGG	0.607													T	72667179	C	T	72667179	2	4	769	1	0	0	0	0	0	0	0	1	3214	755	27	1		1	CDX4	23	72667179	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	25567341	72667179	82603381	38	57388											
IL1RAPL2	26280	broad.mit.edu	37	chrX	104984645	104984645	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgccatgttgaaaaccgaAatggacggaaacatgccagt	14	7	10	10	2	0	1	0	1	0	0	0	4	0	3	4	2	4	1	4	2	4	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:104984645A>C	ENST00000372582.1	+	8	1765	c.1009A>C	c.(1009-1011)Aat>Cat	p.N337H	IL1RAPL2_ENST00000344799.4_Missense_Mutation_p.N337H|IL1RAPL2_ENST00000485671.1_3'UTR	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	337	Ig-like C2-type 3.				central nervous system development|innate immune response	integral to membrane	interleukin-1, Type II, blocking receptor activity			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						TGAAAACCGAAATGGACGGAA	0.378													C	104984645	A	C	104984645	3	2	769	1	0	0	0	0	1	0	0	0	7720	14	1	5	1035	5	IL1RAPL2	23	104984645	Missense_Mutation	SNP	A	TCGA-TQ-A7RQ-01A-11D-A33T-08	32317466	104984645	50285915	39	57389											
GPR101	83550	broad.mit.edu	37	chrX	136113803	136113803	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cgtgtggctgctgttactctCgcgcgtgctgttggtgcagg	2	13	16	10	4	1	0	0	0	1	0	2	0	1	0	0	3	4	6	0	3	1	2			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:136113803C>T	ENST00000298110.1	-	1	30	c.31G>A	c.(31-33)Gag>Aag	p.E11K		NM_054021.1	NP_473362.1	Q96P66	GP101_HUMAN	G protein-coupled receptor 101	11						integral to membrane|plasma membrane	G-protein coupled receptor activity			autonomic_ganglia(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(18)|ovary(3)|skin(1)|urinary_tract(1)	42	Acute lymphoblastic leukemia(192;0.000127)					CTGTTACTCTCGCGCGTGCTG	0.632													T	136113803	C	T	136113803	3	4	769	1	0	0	0	0	1	0	0	0	6676	893	31	1	1498	1	GPR101	23	136113803	Missense_Mutation	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	31129158	136113803	19156757	40	57390											
MAGEC1	9947	broad.mit.edu	37	chrX	140994639	140994641	+	In_Frame_Del	DEL	CTC	CTC	-																															cctctccagattcctgtgagCtcctcctcctcctcctccac																								rs144357389	byFrequency	TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:140994639_140994641delCTC	ENST00000285879.4	+	4	1735_1737	c.1449_1451delCTC	c.(1447-1452)agctcc>agc	p.483_484SS>S	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	483							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					TTCCTGTGAGCTCCTCCTCCTCC	0.473										HNSCC(15;0.026)			-	140994641	CTC	-	140994639	7	5	769	1	0	1	0	1	0	0	0	0	9255	796	28	0	1455	0	MAGEC1	23	140994639	In_Frame_Del	DEL	CTC	TCGA-TQ-A7RQ-01A-11D-A33T-08	4880836	140994639	14275921	41	57391											
EMD	2010	broad.mit.edu	37	chrX	153608123	153608123	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggcggctctcgccccccagCtcgtccgccgcctcctctta	2	8	9	22	6	2	0	0	0	2	0	6	0	4	0	7	2	1	2	7	2	1	1			TCGA-TQ-A7RQ-01A-11D-A33T-08	TCGA-TQ-A7RQ-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	adbae2bb-eb36-44ff-ad9e-1aa089cff90b	aa8b45fd-3ac5-45c8-a77a-ea08fc5c0654	g.chrX:153608123C>T	ENST00000369842.4	+	2	444	c.156C>T	c.(154-156)agC>agT	p.S52S	EMD_ENST00000369835.3_Intron|EMD_ENST00000492448.1_3'UTR	NM_000117.2	NP_000108.1	P50402	EMD_HUMAN	emerin	52	Interaction with F-actin (Probable).				cellular response to growth factor stimulus|muscle contraction|muscle organ development|negative regulation of catenin import into nucleus|negative regulation of fibroblast proliferation|positive regulation of protein export from nucleus|regulation of canonical Wnt receptor signaling pathway	endoplasmic reticulum|integral to membrane|microtubule|nuclear inner membrane|nuclear outer membrane	actin binding|beta-tubulin binding			lung(5)	5	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CGCCCCCCAGCTCGTCCGCCG	0.672													T	153608123	C	T	153608123	2	4	769	1	0	0	0	0	0	0	0	1	5128	796	28	2		2	EMD	23	153608123	Silent	SNP	C	TCGA-TQ-A7RQ-01A-11D-A33T-08	12613484	153608123	1662437	42	57392											
RAB3GAP2	25782	broad.mit.edu	37	chr1	220345393	220345393	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caggtctcatcgatggccacTatagggataggagaaaacag	14	7	12	8	1	1	1	1	0	1	1	3	4	1	2	1	4	1	0	1	4	5	3			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:220345393T>C	ENST00000358951.2	-	23	2533		c.e23-2			NM_012414.3	NP_036546.2	Q9H2M9	RBGPR_HUMAN	RAB3 GTPase activating protein subunit 2 (non-catalytic)						intracellular protein transport	cytoplasm|soluble fraction	GTPase activator activity|protein heterodimerization activity			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(131;0.0443)		CGATGGCCACTATAGGGATAG	0.423													C	220345393	T	C	220345393	5	2	770	1	0	0	0	0	0	0	1	0	13024	1536	53	3	1818	3	RAB3GAP2	1	220345393	Splice_Site	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08		220345393	28905228	1	57393											
OR2M3	127062	broad.mit.edu	37	chr1	248367166	248367166	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	catacggcccacatctgatcGctccccaacacaggacaaga	13	5	7	16	2	1	2	0	1	1	1	3	3	2	3	3	2	2	1	3	2	3	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr1:248367166G>A	ENST00000456743.1	+	1	835	c.797G>A	c.(796-798)cGc>cAc	p.R266H		NM_001004689.1	NP_001004689.1	Q8NG83	OR2M3_HUMAN	olfactory receptor, family 2, subfamily M, member 3	266					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(6)|large_intestine(4)|lung(33)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	50	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			ACATCTGATCGCTCCCCAACA	0.502													A	248367166	G	A	248367166	3	1	770	1	0	0	0	0	1	0	0	0	11087	1087	38	1	799	1	OR2M3	1	248367166	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	28021773	248367166	883455	2	57394											
APOB	338	broad.mit.edu	37	chr2	21229828	21229828	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctagggacatgaaggactggCagctctaatgatggcaggat	12	8	14	7	0	1	2	0	2	1	0	1	5	1	5	0	5	1	3	0	5	3	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:21229828C>T	ENST00000233242.1	-	26	10039	c.9912G>A	c.(9910-9912)ctG>ctA	p.L3304L		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	3304					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	GAAGGACTGGCAGCTCTAATG	0.433													T	21229828	C	T	21229828	2	4	770	1	0	0	0	0	0	0	0	1	788	697	25	2		2	APOB	2	21229828	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		21229828	221969545	3	57395											
TTN	7273	broad.mit.edu	37	chr2	179575583	179575583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgacgtggcactcaaagtcaGcactttctcccaccacagca	11	8	7	15	1	3	1	2	1	1	0	4	1	3	1	2	1	2	3	2	1	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:179575583G>A	ENST00000589042.1	-	98	28465	c.28241C>T	c.(28240-28242)gCt>gTt	p.A9414V	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.A9097V|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8170V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9097	Ig-like 77.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTCAAAGTCAGCACTTTCTCC	0.502													A	179575583	G	A	179575583	3	1	770	1	0	0	0	0	1	0	0	0	16837	971	34	2	76348	2	TTN	2	179575583	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	158345755	179575583	63623790	4	57396											
MYO1B	4430	broad.mit.edu	37	chr2	192214945	192214945	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atccactaggaggagtaataAgtaactgtgagtatttttct	13	14	9	5	0	1	1	0	1	1	0	2	3	2	3	1	2	1	3	1	2	5	7			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:192214945A>C	ENST00000392318.3	+	7	803	c.556A>C	c.(556-558)Agt>Cgt	p.S186R	MYO1B_ENST00000339514.4_Missense_Mutation_p.S186R|MYO1B_ENST00000392316.1_Missense_Mutation_p.S186R|MYO1B_ENST00000304164.4_Missense_Mutation_p.S186R	NM_001130158.1	NP_001123630.1	O43795	MYO1B_HUMAN	myosin IB	186	Myosin head-like.					myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|central_nervous_system(6)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(19)|ovary(1)	55			OV - Ovarian serous cystadenocarcinoma(117;0.0112)|Epithelial(96;0.104)|all cancers(119;0.236)			AGGAGTAATAAGTAACTGTGA	0.313													C	192214945	A	C	192214945	3	2	770	1	0	0	0	0	1	0	0	0	10145	72	3	5	578	5	MYO1B	2	192214945	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	12639362	192214945	50984428	5	57397											
ICOS	29851	broad.mit.edu	37	chr2	204821450	204821450	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctttgttgtagtctgcAttttgggatgcatacttatt	7	18	9	7	0	1	0	0	0	1	0	1	1	1	1	1	1	4	4	1	1	3	8			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr2:204821450A>G	ENST00000316386.6	+	3	530	c.463A>G	c.(463-465)Att>Gtt	p.I155V	ICOS_ENST00000435193.1_Missense_Mutation_p.I155V	NM_012092.3	NP_036224.1	Q9Y6W8	ICOS_HUMAN	inducible T-cell co-stimulator	155					immune response|T cell costimulation	extracellular region				breast(1)|large_intestine(1)|lung(4)	6						TGTAGTCTGCATTTTGGGATG	0.373													G	204821450	A	G	204821450	3	3	770	1	0	0	0	0	1	0	0	0	7544	217	8	3	473	3	ICOS	2	204821450	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	12606505	204821450	38377923	6	57398											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	770	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	4291662	209113112	34086261	7	57399											
PTH1R	5745	broad.mit.edu	37	chr3	46940298	46940298	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcaccgaggaggagctgcGcgccatcgcccaggcgcccc	6	3	13	19	5	1	0	1	0	0	0	2	3	1	2	6	3	2	1	6	3	0	0			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:46940298G>A	ENST00000313049.5	+	7	988	c.785G>A	c.(784-786)cGc>cAc	p.R262H	PTH1R_ENST00000418619.1_Missense_Mutation_p.R262H|PTH1R_ENST00000430002.2_Missense_Mutation_p.R262H|PTH1R_ENST00000449590.1_Missense_Mutation_p.R262H			Q03431	PTH1R_HUMAN	parathyroid hormone 1 receptor	262						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						GAGGAGCTGCGCGCCATCGCC	0.716													A	46940298	G	A	46940298	3	1	770	1	0	0	0	0	1	0	0	0	12844	1087	38	1	811	1	PTH1R	3	46940298	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		46940298	151082132	8	57400											
WDR52	55779	broad.mit.edu	37	chr3	113082076	113082076	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcctcaaagctttgatttgCtctctcttccgtgcctttat	5	18	5	13	1	3	1	1	1	2	0	6	1	5	1	3	0	3	2	3	0	2	5			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:113082076C>T	ENST00000393845.2	-	21	2916	c.2850G>A	c.(2848-2850)gaG>gaA	p.E950E	WDR52_ENST00000295868.2_Silent_p.E950E	NM_001164496.1	NP_001157968.1	Q96MT7	WDR52_HUMAN	WD repeat domain 52	950										breast(2)|central_nervous_system(3)|endometrium(3)|kidney(5)|large_intestine(7)|lung(26)|prostate(1)|urinary_tract(2)	49						CTTTGATTTGCTCTCTCTTCC	0.318													T	113082076	C	T	113082076	2	4	770	1	0	0	0	0	0	0	0	1	17406	796	28	2		2	WDR52	3	113082076	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	66141778	113082076	84940354	9	57401											
EEFSEC	60678	broad.mit.edu	37	chr3	128060266	128060266	+	Frame_Shift_Del	DEL	G	G	-																															ggaaaagataccgtatttccGggggcccctgcaaaccaagg																										TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr3:128060266delG	ENST00000254730.6	+	5	1031	c.977delG	c.(976-978)cggfs	p.R326fs	EEFSEC_ENST00000483569.1_3'UTR|EEFSEC_ENST00000483457.1_Frame_Shift_Del_p.R271fs	NM_021937.3	NP_068756.2	P57772	SELB_HUMAN	eukaryotic elongation factor, selenocysteine-tRNA-specific	326						cytoplasm|nucleus	GTP binding|GTPase activity|translation elongation factor activity	p.R326L(1)		NS(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(10)|ovary(1)	25						CCGTATTTCCGGGGGCCCCTG	0.557													-	128060266	G	-	128060266	7	5	770	1	0	1	0	1	0	0	0	0	4970	1116	39	0	995	0	EEFSEC	3	128060266	Frame_Shift_Del	DEL	G	TCGA-TQ-A7RR-01A-21D-A34A-08	14978190	128060266	69962164	10	57402											
TMPRSS11E	28983	broad.mit.edu	37	chr4	69334631	69334631	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttataaatctccattaagggAagaatttgtcaagtctcagg	14	13	8	6	0	3	1	2	0	2	1	5	2	3	2	1	2	0	0	1	2	7	4			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:69334631A>G	ENST00000305363.4	+	4	357	c.293A>G	c.(292-294)gAa>gGa	p.E98G		NM_014058.3	NP_054777.2	Q9UL52	TM11E_HUMAN	transmembrane protease, serine 11E	98	SEA.				proteolysis	extracellular region|integral to plasma membrane	serine-type endopeptidase activity			endometrium(1)|lung(19)|pancreas(1)|skin(3)	24						CCATTAAGGGAAGAATTTGTC	0.294													G	69334631	A	G	69334631	3	3	770	1	0	0	0	0	1	0	0	0	16342	246	9	3	307	3	TMPRSS11E	4	69334631	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08		69334631	121819645	11	57403											
FSTL5	56884	broad.mit.edu	37	chr4	162680611	162680611	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	caggtgcttgtcagcattaaAatcatcatatttcaatagaa	15	13	6	7	0	4	1	4	0	0	1	4	1	4	1	0	1	2	2	0	1	6	5			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr4:162680611A>G	ENST00000306100.5	-	6	1115	c.679T>C	c.(679-681)Ttt>Ctt	p.F227L	FSTL5_ENST00000536695.1_Missense_Mutation_p.F226L|FSTL5_ENST00000379164.4_Missense_Mutation_p.F226L|FSTL5_ENST00000427802.2_Missense_Mutation_p.F226L	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	227	EF-hand 2.					extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TCAGCATTAAAATCATCATAT	0.338													G	162680611	A	G	162680611	3	3	770	1	0	0	0	0	1	0	0	0	6132	14	1	3	1908	3	FSTL5	4	162680611	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08	93345980	162680611	28473665	12	57404											
ZNF454	285676	broad.mit.edu	37	chr5	178373365	178373365	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatttgctgttgcaggaatcGgtgaccttcaaggatgtggc	9	12	13	7	1	1	1	1	1	0	0	2	3	1	3	1	4	2	3	1	4	3	3			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr5:178373365G>A	ENST00000320129.3	+	3	342	c.39G>A	c.(37-39)tcG>tcA	p.S13S	ZNF454_ENST00000519564.1_Silent_p.S13S	NM_001178090.1|NM_182594.2	NP_001171561.1|NP_872400.2	Q8N9F8	ZN454_HUMAN	zinc finger protein 454	13					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.S13S(1)		breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(11)|lung(18)|ovary(2)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	46	all_cancers(89;0.000904)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.225)|all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.234)		TGCAGGAATCGGTGACCTTCA	0.567													A	178373365	G	A	178373365	2	1	770	1	0	0	0	0	0	0	0	1	18024	1103	39	1		1	ZNF454	5	178373365	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		178373365	2541895	13	57405											
LAMA4	3910	broad.mit.edu	37	chr6	112522827	112522827	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acctttcacagttaggtccaGcataattttcgttacaaatg	12	14	6	9	1	1	0	1	0	0	0	3	0	2	0	2	1	2	3	2	1	4	6			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:112522827G>A	ENST00000230538.7	-	5	882	c.485C>T	c.(484-486)gCt>gTt	p.A162V	LAMA4_ENST00000522006.1_Missense_Mutation_p.A162V|LAMA4_ENST00000389463.4_Missense_Mutation_p.A162V|LAMA4_ENST00000424408.2_Missense_Mutation_p.A162V|LAMA4_ENST00000524032.1_5'UTR	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	162	Laminin EGF-like 2.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		GTTAGGTCCAGCATAATTTTC	0.388													A	112522827	G	A	112522827	3	1	770	1	0	0	0	0	1	0	0	0	8667	971	34	2	5126	2	LAMA4	6	112522827	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		112522827	58592240	14	57406											
PKIB	5570	broad.mit.edu	37	chr6	123038935	123038935	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcacattctatttgtagatgTtgctatgaggacagattcat	11	15	9	6	0	2	3	1	1	1	2	2	4	2	4	0	1	1	4	0	1	3	7			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr6:123038935T>C	ENST00000258014.3	+	4	176	c.17T>C	c.(16-18)gTt>gCt	p.V6A	PKIB_ENST00000368452.2_5'UTR|PKIB_ENST00000354275.2_5'UTR|PKIB_ENST00000368446.1_Missense_Mutation_p.V8A|PKIB_ENST00000392490.1_5'UTR|PKIB_ENST00000392491.2_5'UTR|PKIB_ENST00000368448.1_5'UTR	NM_001270395.1	NP_001257324.1	Q9C010	IPKB_HUMAN	protein kinase (cAMP-dependent, catalytic) inhibitor beta	0							cAMP-dependent protein kinase inhibitor activity			large_intestine(3)|lung(1)	4				GBM - Glioblastoma multiforme(226;0.164)		TTTGTAGATGTTGCTATGAGG	0.448													C	123038935	T	C	123038935	3	2	770	1	0	0	0	0	1	0	0	0	12051	1740	60	3		3	PKIB	6	123038935	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	10516108	123038935	48076132	15	57407											
C7orf26	79034	broad.mit.edu	37	chr7	6631413	6631413	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaacaaagccgatgacagccGgatgagcttgttgggaaaac	14	6	13	8	2	0	2	0	2	0	0	0	6	0	4	2	2	5	2	2	2	4	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:6631413G>A	ENST00000344417.5	+	2	596	c.329G>A	c.(328-330)cGg>cAg	p.R110Q	C7orf26_ENST00000359073.5_Missense_Mutation_p.R91Q|C7orf26_ENST00000472693.1_3'UTR	NM_024067.2	NP_076972.2	Q96N11	CG026_HUMAN	chromosome 7 open reading frame 26	110										endometrium(2)|large_intestine(2)|lung(5)|ovary(1)|skin(1)	11		Ovarian(82;0.232)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0986)		GATGACAGCCGGATGAGCTTG	0.507													A	6631413	G	A	6631413	3	1	770	1	0	0	0	0	1	0	0	0	2405	1116	39	1	335	1	C7orf26	7	6631413	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		6631413	152507250	16	57408											
MUC17	140453	broad.mit.edu	37	chr7	100680279	100680279	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taccagcatagcaacctcaaCgcctagtgaaggaagcactg	14	6	9	12	1	1	1	1	1	0	0	1	2	1	2	3	1	6	3	3	1	7	3	rs147735350		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:100680279C>T	ENST00000306151.4	+	3	5646	c.5582C>T	c.(5581-5583)aCg>aTg	p.T1861M		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1861	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)					GCAACCTCAACGCCTAGTGAA	0.488													T	100680279	C	T	100680279	3	4	770	1	0	0	0	0	1	0	0	0	10050	536	19	1	5592	1	MUC17	7	100680279	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	94048866	100680279	58458384	17	57409											
PMPCB	9512	broad.mit.edu	37	chr7	102949430	102949430	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggatgacaagatgcctttggCgcaccttgcaatagctgttg	9	11	12	9	1	0	2	0	1	0	1	0	3	0	3	2	2	3	4	2	2	3	4	rs142471700	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr7:102949430C>T	ENST00000249269.4	+	8	919	c.881C>T	c.(880-882)gCg>gTg	p.A294V	PMPCB_ENST00000428154.1_Missense_Mutation_p.A294V|PMPCB_ENST00000420236.2_Missense_Mutation_p.A189V	NM_004279.2	NP_004270.2	O75439	MPPB_HUMAN	peptidase (mitochondrial processing) beta	294					proteolysis	mitochondrial matrix	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|large_intestine(1)|liver(1)|lung(9)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						ATGCCTTTGGCGCACCTTGCA	0.423													T	102949430	C	T	102949430	3	4	770	1	0	0	0	0	1	0	0	0	12218	768	27	1	911	1	PMPCB	7	102949430	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	2269151	102949430	56189233	18	57410											
KCNB2	9312	broad.mit.edu	37	chr8	73848238	73848238	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttgtctctcaatacgctgccGgagctgcaggaaacggacga	10	8	12	11	4	2	0	1	0	1	0	3	4	2	3	1	3	5	3	1	3	3	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:73848238G>A	ENST00000523207.1	+	3	1236	c.648G>A	c.(646-648)ccG>ccA	p.P216P		NM_004770.2	NP_004761.2	Q92953	KCNB2_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 2	216					regulation of smooth muscle contraction	voltage-gated potassium channel complex	delayed rectifier potassium channel activity|protein binding	p.P216P(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(20)|liver(2)|lung(31)|ovary(2)|pancreas(3)|prostate(2)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	85	Breast(64;0.137)		Epithelial(68;0.105)			ATACGCTGCCGGAGCTGCAGG	0.473													A	73848238	G	A	73848238	2	1	770	1	0	0	0	0	0	0	0	1	8071	1103	39	1		1	KCNB2	8	73848238	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		73848238	72515784	19	57411											
MTERFD1	51001	broad.mit.edu	37	chr8	97270778	97270778	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agaaagcaattgtcagaggaTatctgaggctgagcagaaaa	17	7	12	5	0	2	5	1	2	1	3	2	6	2	6	0	2	2	3	0	2	5	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr8:97270778T>G	ENST00000523821.1	-	2	260	c.141A>C	c.(139-141)atA>atC	p.I47I	MTERFD1_ENST00000287025.3_Silent_p.I47I			Q96E29	MTER1_HUMAN	MTERF domain containing 1	47					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrion	transcription regulatory region DNA binding			endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	24	Breast(36;5.16e-05)					TGTCAGAGGATATCTGAGGCT	0.428													G	97270778	T	G	97270778	2	3	770	1	0	0	0	0	0	0	0	1	9995	1396	49	5		5	MTERFD1	8	97270778	Silent	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	23422540	97270778	49093244	20	57412											
FIBCD1	84929	broad.mit.edu	37	chr9	133779457	133779469	+	Frame_Shift_Del	DEL	GTCCTCCCGGACC	GTCCTCCCGGACC	-																															caaggtgcaccagtctagcgGtcctcccggaccggccggat																										TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr9:133779457_133779469delGTCCTCCCGGACC	ENST00000372338.4	-	7	1610_1622	c.1368_1380delGGTCCGGGAGGAC	c.(1366-1380)ccggtccgggaggacfs	p.PVRED456fs	FIBCD1_ENST00000372337.2_Frame_Shift_Del_p.PVRED298fs|FIBCD1_ENST00000448616.1_Frame_Shift_Del_p.PVRED456fs|FIBCD1_ENST00000253018.4_Splice_Site_p.GS158fs	NM_032843.4	NP_116232.3	Q8N539	FBCD1_HUMAN	fibrinogen C domain containing 1	456	Fibrinogen C-terminal.				signal transduction	extracellular space|integral to membrane	chitin binding|metal ion binding|receptor binding			kidney(1)|large_intestine(3)|lung(2)|prostate(5)|urinary_tract(1)	12	all_hematologic(7;0.0028)			OV - Ovarian serous cystadenocarcinoma(145;3.52e-05)|Epithelial(140;0.00019)		CAGTCTAGCGGTCCTCCCGGACCGGCCGGATCT	0.643													-	133779469	GTCCTCCCGGACC	-	133779457	7	5	770	1	0	1	0	1	0	0	0	0	5933	1252	44	0	9	0	FIBCD1	9	133779457	Frame_Shift_Del	DEL	GTCCTCCCGGACC	TCGA-TQ-A7RR-01A-21D-A34A-08		133779457	7433974	21	57413											
RRP12	23223	broad.mit.edu	37	chr10	99160934	99160934	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcgctgctgtggcctttctTccagcgcttcaacttagctg	4	14	10	13	2	2	0	1	0	1	0	4	0	3	0	2	1	4	4	2	1	2	4			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr10:99160934T>C	ENST00000370992.4	-	1	166	c.55A>G	c.(55-57)Aag>Gag	p.K19E	RP11-452K12.7_ENST00000422848.1_RNA|RRP12_ENST00000315563.6_Missense_Mutation_p.K19E|RRP12_ENST00000414986.1_Missense_Mutation_p.K19E	NM_015179.3	NP_055994.2	Q5JTH9	RRP12_HUMAN	ribosomal RNA processing 12 homolog (S. cerevisiae)	19						integral to membrane|nuclear membrane|nucleolus	protein binding			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(5)|large_intestine(2)|lung(13)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Colorectal(252;0.162)		Epithelial(162;2.72e-09)|all cancers(201;1.76e-07)		TGGCCTTTCTTCCAGCGCTTC	0.607													C	99160934	T	C	99160934	3	2	770	1	0	0	0	0	1	0	0	0	13777	1792	62	3	3974	3	RRP12	10	99160934	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08		99160934	36373813	22	57414											
TRIM5	85363	broad.mit.edu	37	chr11	5701232	5701232	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcaggctggtaactgatcCggcacacagggcagctactc	9	8	11	13	1	1	1	1	1	1	0	4	1	2	1	1	4	3	5	1	4	2	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:5701232C>T	ENST00000305836.5	-	2	478	c.176G>A	c.(175-177)cGg>cAg	p.R59Q	TRIM5_ENST00000396855.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000380034.3_Missense_Mutation_p.R59Q|TRIM5_ENST00000396853.4_Missense_Mutation_p.R59Q|TRIM5_ENST00000380027.1_Missense_Mutation_p.R59Q|TRIM5_ENST00000396847.3_Missense_Mutation_p.R59Q			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	59					interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		GTAACTGATCCGGCACACAGG	0.547													T	5701232	C	T	5701232	3	4	770	1	0	0	0	0	1	0	0	0	16626	652	23	1	1572	1	TRIM5	11	5701232	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		5701232	129305284	23	57415											
CTR9	9646	broad.mit.edu	37	chr11	10787958	10787958	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatgttttcaggctatttgcGcctaggagccatggctagag	8	13	12	8	1	1	1	1	0	0	1	1	2	1	2	2	3	2	3	2	3	4	7			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:10787958G>A	ENST00000361367.2	+	13	2033	c.1607G>A	c.(1606-1608)cGc>cAc	p.R536H		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	536					histone H2B ubiquitination|histone monoubiquitination	Cdc73/Paf1 complex|nuclear speck				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GGCTATTTGCGCCTAGGAGCC	0.308													A	10787958	G	A	10787958	3	1	770	1	0	0	0	0	1	0	0	0	4057	1087	38	1	1657	1	CTR9	11	10787958	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	5086726	10787958	124218558	24	57416											
SPDYC	387778	broad.mit.edu	37	chr11	64939753	64939753	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgctggtctacttccagcgcGcccacctgaagctcagcgag	7	8	11	15	3	2	1	1	1	1	0	3	2	3	1	3	1	5	2	3	1	2	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr11:64939753G>A	ENST00000377185.2	+	4	377	c.295G>A	c.(295-297)Gcc>Acc	p.A99T		NM_001008778.1	NP_001008778.1	Q5MJ68	SPDYC_HUMAN	speedy/RINGO cell cycle regulator family member C	99	Speedy/Ringo box; Required for CDK- binding (By similarity).				cell cycle	nucleus	protein kinase binding	p.A99T(2)		breast(1)|endometrium(3)|large_intestine(2)|lung(9)|prostate(1)	16						CTTCCAGCGCGCCCACCTGAA	0.602													A	64939753	G	A	64939753	3	1	770	1	0	0	0	0	1	0	0	0	15124	1087	38	1	309	1	SPDYC	11	64939753	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	54151795	64939753	70066763	25	57417											
GMPR2	51292	broad.mit.edu	37	chr14	24707597	24707597	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagaagtatgctgggggCgtggctgagtacaggtatgt	10	10	17	4	1	0	3	0	2	0	1	0	3	0	3	0	4	2	5	0	4	5	3			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr14:24707597C>T	ENST00000557854.1	+	8	1174	c.897C>T	c.(895-897)ggC>ggT	p.G299G	GMPR2_ENST00000559836.1_Silent_p.G281G|GMPR2_ENST00000420554.2_Silent_p.G299G|GMPR2_ENST00000355299.4_Silent_p.G281G|GMPR2_ENST00000399440.2_Silent_p.G281G|GMPR2_ENST00000559104.1_Silent_p.G266G|GMPR2_ENST00000559910.1_Silent_p.G248G|GMPR2_ENST00000348719.7_Silent_p.G281G|GMPR2_ENST00000456667.3_Silent_p.G253G	NM_001283022.1	NP_001269951.1	Q9P2T1	GMPR2_HUMAN	guanosine monophosphate reductase 2	281					nucleotide metabolic process|purine base metabolic process|purine-containing compound salvage	cytosol	GMP reductase activity|metal ion binding			large_intestine(4)|lung(3)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	12				GBM - Glioblastoma multiforme(265;0.0181)		ATGCTGGGGGCGTGGCTGAGT	0.507													T	24707597	C	T	24707597	2	4	770	1	0	0	0	0	0	0	0	1	6553	755	27	1		1	GMPR2	14	24707597	Silent	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		24707597	82641943	26	57418											
SPINT1	6692	broad.mit.edu	37	chr15	41145414	41145414	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggaaaacacagattggCgcctactgcggggtgacacg	11	7	14	9	3	0	2	0	1	0	1	0	3	0	3	1	4	3	0	1	4	3	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr15:41145414C>T	ENST00000344051.4	+	3	802	c.568C>T	c.(568-570)Cgc>Tgc	p.R190C	SPINT1_ENST00000431806.1_Missense_Mutation_p.R190C|SPINT1_ENST00000562057.1_Missense_Mutation_p.R190C			O43278	SPIT1_HUMAN	serine peptidase inhibitor, Kunitz type 1	190						extracellular region|membrane fraction	protein binding|serine-type endopeptidase inhibitor activity			central_nervous_system(1)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	16		all_cancers(109;1.35e-17)|all_epithelial(112;3.78e-15)|Lung NSC(122;9.68e-11)|all_lung(180;2.25e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.91e-05)|COAD - Colon adenocarcinoma(120;0.153)|BRCA - Breast invasive adenocarcinoma(123;0.166)		CACAGATTGGCGCCTACTGCG	0.617													T	41145414	C	T	41145414	3	4	770	1	0	0	0	0	1	0	0	0	15164	768	27	1	574	1	SPINT1	15	41145414	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08		41145414	61385978	27	57419											
CES3	23491	broad.mit.edu	37	chr16	66997082	66997082	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctttctgtccttccctcagGgcccgaagttgctcagcctg	4	12	9	16	1	3	0	2	0	1	0	5	1	5	0	5	1	2	2	5	1	1	3			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr16:66997082G>A	ENST00000303334.4	+	2	154	c.83G>A	c.(82-84)gGg>gAg	p.G28E	CES3_ENST00000394037.1_Splice_Site_p.G28E|RP11-361L15.4_ENST00000566869.1_RNA	NM_024922.5	NP_079198.2	Q6UWW8	EST3_HUMAN	carboxylesterase 3	28						endoplasmic reticulum lumen	carboxylesterase activity|methyl indole-3-acetate esterase activity|methyl jasmonate esterase activity|methyl salicylate esterase activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	24		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0488)|Epithelial(162;0.127)		CTTCCCTCAGGGCCCGAAGTT	0.587													A	66997082	G	A	66997082	5	1	770	1	0	0	0	0	0	0	1	0	3301	1246	43	2	89	2	CES3	16	66997082	Splice_Site	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		66997082	23357671	28	57420											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	770	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		7577121	73618089	29	57421											
TP53	7157	broad.mit.edu	37	chr17	7577572	7577572	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgcaggaactgttacacaTgtagttgtagtggatggtgg	10	12	14	5	0	0	0	0	0	0	0	0	2	0	2	0	4	3	5	0	4	4	4			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:7577572T>C	ENST00000420246.2	-	7	841	c.709A>G	c.(709-711)Atg>Gtg	p.M237V	TP53_ENST00000269305.4_Missense_Mutation_p.M237V|TP53_ENST00000359597.4_Missense_Mutation_p.M237V|TP53_ENST00000445888.2_Missense_Mutation_p.M237V|TP53_ENST00000413465.2_Missense_Mutation_p.M237V|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.M237V	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	237	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).		M -> I (in LFS; germline mutation and in sporadic cancers; somatic mutation).|M -> K (in sporadic cancers; somatic mutation).|M -> L (in sporadic cancers; somatic mutation).|M -> R (in sporadic cancers; somatic mutation).|M -> T (in sporadic cancers; somatic mutation).|M -> V (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.0?(8)|p.M237V(6)|p.?(5)|p.M237L(5)|p.M237fs*10(2)|p.Y236_M237delYM(1)|p.Y236_M237insXX(1)|p.H233fs*6(1)|p.M144L(1)|p.M237_N239delMCN(1)|p.Y236_M243delYMCNSSCM(1)|p.V225fs*23(1)|p.Y236_M237>*L(1)|p.H233_C242del10(1)|p.M237fs*1(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)		CTGTTACACATGTAGTTGTAG	0.572		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)			C	7577572	T	C	7577572	3	2	770	1	0	0	0	0	1	0	0	0	16482	1464	51	3	581	3	TP53	17	7577572	Missense_Mutation	SNP	T	TCGA-TQ-A7RR-01A-21D-A34A-08	451	7577572	73617638	30	57422											
SLFN11	91607	broad.mit.edu	37	chr17	33689956	33689956	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgtgaaggttatcgggcGttggggttggcaaaaatgaa	11	10	17	3	2	0	2	0	2	0	0	1	3	0	2	0	5	0	4	0	5	5	3	rs114962374	byFrequency	TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:33689956G>A	ENST00000394566.1	-	4	1143	c.871C>T	c.(871-873)Cgc>Tgc	p.R291C	SLFN11_ENST00000308377.4_Missense_Mutation_p.R291C	NM_001104587.1|NM_001104588.1|NM_001104589.1|NM_001104590.1	NP_001098057.1|NP_001098058.1|NP_001098059.1|NP_001098060.1	Q7Z7L1	SLN11_HUMAN	schlafen family member 11	291						nucleus	ATP binding	p.R291C(1)		autonomic_ganglia(1)|breast(1)|kidney(3)|large_intestine(14)|lung(17)|ovary(1)|prostate(4)|skin(2)|stomach(5)|upper_aerodigestive_tract(2)	50		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GTTATCGGGCGTTGGGGTTGG	0.423													A	33689956	G	A	33689956	3	1	770	1	0	0	0	0	1	0	0	0	14827	1145	40	1	1850	1	SLFN11	17	33689956	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	26112384	33689956	47505254	31	57423											
SYNRG	11276	broad.mit.edu	37	chr17	35896092	35896092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggcttactgtgagtgtggCgagtgacatgaagccgatta	9	11	15	6	2	0	3	0	3	0	0	0	5	0	3	1	2	2	1	1	2	3	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:35896092C>T	ENST00000339208.6	-	19	3795	c.3655G>A	c.(3655-3657)Gcc>Acc	p.A1219T	SYNRG_ENST00000502449.2_Missense_Mutation_p.A1096T|SYNRG_ENST00000345615.4_Missense_Mutation_p.A1141T|SYNRG_ENST00000394378.2_Missense_Mutation_p.A1141T|SYNRG_ENST00000591288.1_Missense_Mutation_p.A1013T|SYNRG_ENST00000585472.1_Missense_Mutation_p.A1140T|SYNRG_ENST00000346661.4_Missense_Mutation_p.A1219T	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1219					endocytosis|intracellular protein transport	AP-1 adaptor complex	calcium ion binding			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GTGAGTGTGGCGAGTGACATG	0.443													T	35896092	C	T	35896092	3	4	770	1	0	0	0	0	1	0	0	0	15557	768	27	1	378	1	SYNRG	17	35896092	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	2206136	35896092	45299118	32	57424											
OTOP3	347741	broad.mit.edu	37	chr17	72943529	72943529	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaactggaagcggagggcaCtcaaggagatctcactcttc	11	8	11	11	1	4	1	3	0	2	1	6	4	4	3	0	4	2	1	0	4	3	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr17:72943529C>A	ENST00000328801.4	+	6	1579	c.1579C>A	c.(1579-1581)Ctc>Atc	p.L527I		NM_178233.1	NP_839947.1	Q7RTS5	OTOP3_HUMAN	otopetrin 3	527						integral to membrane|intracellular	zinc ion binding			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	all_lung(278;0.151)|Lung NSC(278;0.185)					GCGGAGGGCACTCAAGGAGAT	0.617													A	72943529	C	A	72943529	3	1	770	1	0	0	0	0	1	0	0	0	11383	565	20	4	1601	4	OTOP3	17	72943529	Missense_Mutation	SNP	C	TCGA-TQ-A7RR-01A-21D-A34A-08	37047437	72943529	8251681	33	57425											
ZNF77	58492	broad.mit.edu	37	chr19	2933587	2933587	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acggtctctctccagtgtgcGttctcacgtgcacacgaagg	7	10	11	13	4	3	0	1	0	3	0	6	1	3	0	1	2	2	2	1	2	1	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:2933587G>A	ENST00000314531.4	-	4	1630	c.1538C>T	c.(1537-1539)aCg>aTg	p.T513M		NM_021217.2	NP_067040.1	Q15935	ZNF77_HUMAN	zinc finger protein 77	513					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus	DNA binding|zinc ion binding			breast(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(5)|ovary(1)	17				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)|GBM - Glioblastoma multiforme(1328;2.11e-07)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|Lung(535;0.174)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCAGTGTGCGTTCTCACGTG	0.502													A	2933587	G	A	2933587	3	1	770	1	0	0	0	0	1	0	0	0	18242	1145	40	1	103	1	ZNF77	19	2933587	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		2933587	56195396	34	57426											
NWD1	284434	broad.mit.edu	37	chr19	16902242	16902242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccttggatgtgcatggccGtgctggcctcccaggccaca	6	9	12	14	1	0	0	0	0	0	0	2	1	2	1	5	4	2	2	5	4	0	1			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:16902242G>A	ENST00000524140.2	+	14	3440	c.3022G>A	c.(3022-3024)Gtg>Atg	p.V1008M	NWD1_ENST00000339803.6_Missense_Mutation_p.V873M|NWD1_ENST00000552788.1_Missense_Mutation_p.V1008M|NWD1_ENST00000523826.1_Missense_Mutation_p.V802M|NWD1_ENST00000379808.3_Missense_Mutation_p.V1008M|NWD1_ENST00000549814.1_Missense_Mutation_p.V1008M	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1008							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGCATGGCCGTGCTGGCCTC	0.517													A	16902242	G	A	16902242	3	1	770	1	0	0	0	0	1	0	0	0	10857	1145	40	1	2655	1	NWD1	19	16902242	Missense_Mutation	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	13968655	16902242	42226741	35	57427											
ZNF708	7562	broad.mit.edu	37	chr19	21492112	21492112	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcttttccttgctccagacaGgtgatcaggtctaaattaga	10	14	8	9	0	3	3	1	1	2	2	5	3	5	3	2	2	1	1	2	2	3	5			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:21492112G>C	ENST00000356929.3	-	3	359	c.162C>G	c.(160-162)acC>acG	p.T54T		NM_021269.2	NP_067092.2	P17019	ZN708_HUMAN	zinc finger protein 708	54	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(9)|ovary(2)|skin(2)|stomach(1)	32						GCTCCAGACAGGTGATCAGGT	0.408													C	21492112	G	C	21492112	2	2	770	1	0	0	0	0	0	0	0	1	18213	987	35	4		4	ZNF708	19	21492112	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	4589870	21492112	37636871	36	57428											
NLRP5	126206	broad.mit.edu	37	chr19	56539876	56539876	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgtcctgtggtccctctatgGtgagtaccccaggcagtttt	5	14	11	11	0	1	1	0	1	1	0	3	1	3	1	4	3	1	3	4	3	2	4			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr19:56539876G>A	ENST00000390649.3	+	7	2276		c.e7+1			NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5							mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCCCTCTATGGTGAGTACCCC	0.527													A	56539876	G	A	56539876	5	1	770	1	0	0	0	0	0	0	1	0	10556	1275	44	2	2303	2	NLRP5	19	56539876	Splice_Site	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	35047764	56539876	2589107	37	57429											
SSTR4	6754	broad.mit.edu	37	chr20	23017160	23017160	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggagcccctggactactAtgccactgctctcaagagca	10	7	11	13	0	1	1	1	0	1	1	2	4	1	4	3	3	5	2	3	3	3	2			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:23017160A>G	ENST00000255008.3	+	1	1104	c.1040A>G	c.(1039-1041)tAt>tGt	p.Y347C	RP4-753D10.3_ENST00000440921.1_RNA	NM_001052.2	NP_001043.2	P31391	SSR4_HUMAN	somatostatin receptor 4	347					G-protein signaling, coupled to cyclic nucleotide second messenger|negative regulation of cell proliferation	integral to plasma membrane	somatostatin receptor activity			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|upper_aerodigestive_tract(1)	32	Colorectal(13;0.0518)|Lung NSC(19;0.0542)|all_lung(19;0.118)					CTGGACTACTATGCCACTGCT	0.642													G	23017160	A	G	23017160	3	3	770	1	0	0	0	0	1	0	0	0	15296	449	16	3	1042	3	SSTR4	20	23017160	Missense_Mutation	SNP	A	TCGA-TQ-A7RR-01A-21D-A34A-08		23017160	40008360	38	57430											
ELMO2	63916	broad.mit.edu	37	chr20	45002149	45002149	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcatgggtaaagaacatcggGtggtagtcattgcgtccttc	9	12	12	8	2	2	1	2	0	0	1	5	1	3	1	1	3	2	2	1	3	4	4			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr20:45002149G>A	ENST00000372176.1	-	16	1509	c.1041C>T	c.(1039-1041)caC>caT	p.H347H	ELMO2_ENST00000445496.2_Silent_p.H252H|ELMO2_ENST00000352077.2_Silent_p.H433H|ELMO2_ENST00000439931.2_Silent_p.H447H|ELMO2_ENST00000454865.2_Silent_p.H167H|ELMO2_ENST00000396391.1_Silent_p.H435H|ELMO2_ENST00000290246.6_Silent_p.H435H			Q96JJ3	ELMO2_HUMAN	engulfment and cell motility 2	435	ELMO.				apoptosis|cell chemotaxis|phagocytosis	cytoskeleton|cytosol|membrane	lyase activity|receptor tyrosine kinase binding|SH3 domain binding			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|urinary_tract(1)	16		Myeloproliferative disorder(115;0.0122)				AGAACATCGGGTGGTAGTCAT	0.498													A	45002149	G	A	45002149	2	1	770	1	0	0	0	0	0	0	0	1	5107	1252	44	2		2	ELMO2	20	45002149	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08	21984989	45002149	18023371	39	57431											
B3GALT5	10317	broad.mit.edu	37	chr21	41033275	41033275	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggaggagctccactcccaGccgaccttttttccaggggg	6	10	12	13	1	0	0	0	0	0	0	3	3	3	2	5	4	2	1	5	4	0	4			TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chr21:41033275G>A	ENST00000380620.4	+	5	1381	c.789G>A	c.(787-789)caG>caA	p.Q263Q	B3GALT5_ENST00000343118.4_Silent_p.Q263Q|AF064860.5_ENST00000416555.1_RNA|B3GALT5_ENST00000398714.2_Silent_p.Q263Q|B3GALT5_ENST00000380618.1_Silent_p.Q263Q			Q9Y2C3	B3GT5_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 5						protein glycosylation	endoplasmic reticulum|Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	16		Prostate(19;2.55e-06)				TCCACTCCCAGCCGACCTTTT	0.542													A	41033275	G	A	41033275	2	1	770	1	0	0	0	0	0	0	0	1	1255	962	34	2		2	B3GALT5	21	41033275	Silent	SNP	G	TCGA-TQ-A7RR-01A-21D-A34A-08		41033275	7096620	40	57432											
ATRX	546	broad.mit.edu	37	chrX	76938484	76938484	+	Frame_Shift_Del	DEL	T	T	-																															tatggtttgtatgaatttcaTtaatatcagtatctgaagaa																										TCGA-TQ-A7RR-01A-21D-A34A-08	TCGA-TQ-A7RR-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	45405aa2-f77e-413d-8866-04ec7cc569e8	ce743472-4533-4b2c-a3a6-4e9f6cc7a6aa	g.chrX:76938484delT	ENST00000373344.5	-	9	2478	c.2264delA	c.(2263-2265)aatfs	p.N755fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.N717fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	755					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)	ATGAATTTCATTAATATCAGT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938484	T	-	76938484	7	5	770	1	0	1	0	1	0	0	0	0	1213	1493	52	0	5322	0	ATRX	23	76938484	Frame_Shift_Del	DEL	T	TCGA-TQ-A7RR-01A-21D-A34A-08		76938484	78332076	41	57433											
PQLC3	130814	broad.mit.edu	37	chr2	11312154	11312154	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgcgctgacttggagcctctCttcctatacctgtgcaagta	7	13	9	12	1	1	1	0	1	1	0	3	2	2	2	3	1	4	3	3	1	4	5			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:11312154C>T	ENST00000295083.3	+	5	633	c.458C>T	c.(457-459)tCt>tTt	p.S153F	PQLC3_ENST00000476787.1_3'UTR|PQLC3_ENST00000441908.2_Missense_Mutation_p.S153F|PQLC3_ENST00000402361.1_Intron	NM_152391.3	NP_689604.1	Q8N755	PQLC3_HUMAN	PQ loop repeat containing 3	153						integral to membrane				kidney(2)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	6	all_hematologic(175;0.0797)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.0978)|OV - Ovarian serous cystadenocarcinoma(76;0.132)		TGGAGCCTCTCTTCCTATACC	0.507													T	11312154	C	T	11312154	3	4	771	1	0	0	0	0	1	0	0	0	12502	913	32	2	476	2	PQLC3	2	11312154	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		11312154	231887219	1	57434											
SLC9A4	389015	broad.mit.edu	37	chr2	103141552	103141552	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctaaagagattctgatcCgccgccagaacaccttaagg	13	7	10	11	2	1	3	0	1	1	2	2	4	2	3	4	2	1	1	4	2	4	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:103141552C>T	ENST00000295269.4	+	10	2345	c.1888C>T	c.(1888-1890)Cgc>Tgc	p.R630C		NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4	630					regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity			NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GATTCTGATCCGCCGCCAGAA	0.502													T	103141552	C	T	103141552	3	4	771	1	0	0	0	0	1	0	0	0	14810	652	23	1	1926	1	SLC9A4	2	103141552	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	91829398	103141552	140057821	2	57435											
SLC20A1	6574	broad.mit.edu	37	chr2	113404716	113404716	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gactcaagggctgctgatggCcggctcagtcagtgctatgt	7	10	14	10	1	3	1	3	1	0	0	3	2	3	1	1	3	2	4	1	3	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:113404716C>T	ENST00000272542.3	+	2	850	c.311C>T	c.(310-312)gCc>gTc	p.A104V		NM_005415.4	NP_005406.3	Q8WUM9	S20A1_HUMAN	solute carrier family 20 (phosphate transporter), member 1	104					phosphate metabolic process|positive regulation of I-kappaB kinase/NF-kappaB cascade	integral to plasma membrane	inorganic phosphate transmembrane transporter activity|receptor activity|sodium-dependent phosphate transmembrane transporter activity			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|skin(1)|urinary_tract(3)	28						CTGCTGATGGCCGGCTCAGTC	0.488													T	113404716	C	T	113404716	3	4	771	1	0	0	0	0	1	0	0	0	14532	739	26	2	313	2	SLC20A1	2	113404716	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	10263164	113404716	129794657	3	57436											
FAM126B	285172	broad.mit.edu	37	chr2	201862255	201862255	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acagcatgagaaaactcaggActtcaaacctaaaaacaaca	21	5	5	10	0	2	1	2	1	0	1	2	3	2	2	1	1	5	1	1	1	7	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:201862255A>C	ENST00000418596.3	-	8	726	c.539T>G	c.(538-540)gTc>gGc	p.V180G	AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B							intracellular				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						AAAACTCAGGACTTCAAACCT	0.358													C	201862255	A	C	201862255	3	2	771	1	0	0	0	0	1	0	0	0	5475	275	10	5	1073	5	FAM126B	2	201862255	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08	88457539	201862255	41337118	4	57437											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	771	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	7250857	209113112	34086261	5	57438											
INPP5D	3635	broad.mit.edu	37	chr2	234112925	234112925	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaatcccccaaaatgccGcggaaggaacccccgccctg	11	3	10	17	3	0	0	0	0	0	0	1	3	1	3	6	3	2	0	6	3	5	0			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr2:234112925G>A	ENST00000359570.5	+	28	3093	c.3093G>A	c.(3091-3093)ccG>ccA	p.P1031P	INPP5D_ENST00000450745.1_Silent_p.P795P|INPP5D_ENST00000455936.2_Silent_p.P795P			Q92835	SHIP1_HUMAN	inositol polyphosphate-5-phosphatase, 145kDa	0	Pro-rich.				apoptosis|blood coagulation|leukocyte migration|T cell receptor signaling pathway	cytosol	inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|SH3 domain binding	p.P1043P(1)		central_nervous_system(1)|ovary(1)	2		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0273)|Acute lymphoblastic leukemia(138;0.0328)|Lung NSC(271;0.0843)		Epithelial(121;1.16e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000479)|LUSC - Lung squamous cell carcinoma(224;0.00655)|Lung(119;0.00802)|GBM - Glioblastoma multiforme(43;0.0185)		CCAAAATGCCGCGGAAGGAAC	0.647													A	234112925	G	A	234112925	2	1	771	1	0	0	0	0	0	0	0	1	7814	1074	38	1		1	INPP5D	2	234112925	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	24999813	234112925	9086448	6	57439											
PXK	54899	broad.mit.edu	37	chr3	58368278	58368278	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctcttcctcccaaaaaatTgattggtaacatggatcgtg	12	12	7	10	1	1	1	0	1	1	0	4	2	3	2	3	2	1	1	3	2	4	4			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:58368278T>C	ENST00000463280.1	+	2	231	c.140T>C	c.(139-141)tTg>tCg	p.L47S	PXK_ENST00000484288.1_Missense_Mutation_p.L80S|PXK_ENST00000383715.4_Missense_Mutation_p.L63S|PXK_ENST00000536660.1_Intron|PXK_ENST00000383716.3_Missense_Mutation_p.L47S|PXK_ENST00000479241.1_Missense_Mutation_p.L63S|PXK_ENST00000356151.2_Missense_Mutation_p.L80S|PXK_ENST00000302779.5_Missense_Mutation_p.L63S			Q7Z7A4	PXK_HUMAN	PX domain containing serine/threonine kinase	80	PX.				cell communication|inflammatory response|negative regulation of ATPase activity|negative regulation of ion transport|regulation of synaptic transmission	centrosome|cytoplasm|nucleus|plasma membrane	actin binding|ATP binding|phosphatidylinositol binding|protein C-terminus binding|protein kinase activity			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(55;0.000249)|KIRC - Kidney renal clear cell carcinoma(10;0.00346)|Kidney(10;0.00368)|OV - Ovarian serous cystadenocarcinoma(275;0.22)		CCCAAAAAATTGATTGGTAAC	0.338													C	58368278	T	C	58368278	3	2	771	1	0	0	0	0	1	0	0	0	12937	1821	63	3	253	3	PXK	3	58368278	Missense_Mutation	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08		58368278	139654152	7	57440											
FRMD4B	23150	broad.mit.edu	37	chr3	69230684	69230684	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	actggtgtcacacagtaataCtctgtgcttgattggcttgt	8	15	10	8	0	2	1	1	1	1	0	2	1	2	1	0	2	2	3	0	2	2	5			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:69230684C>T	ENST00000542259.1	-	22	2506	c.2055G>A	c.(2053-2055)gaG>gaA	p.E685E	FRMD4B_ENST00000478263.1_Silent_p.E391E|FRMD4B_ENST00000398540.3_Silent_p.E739E			Q9Y2L6	FRM4B_HUMAN	FERM domain containing 4B	739						cytoplasm|cytoskeleton	binding			NS(2)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(3)|skin(2)	19		Lung NSC(201;0.0138)|Prostate(884;0.11)		BRCA - Breast invasive adenocarcinoma(55;0.000201)|Epithelial(33;0.00141)|LUSC - Lung squamous cell carcinoma(21;0.00999)|Lung(16;0.0182)		CACAGTAATACTCTGTGCTTG	0.493													T	69230684	C	T	69230684	2	4	771	1	0	0	0	0	0	0	0	1	6104	564	20	2		2	FRMD4B	3	69230684	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	10862406	69230684	128791746	8	57441											
LSAMP	4045	broad.mit.edu	37	chr3	116163760	116163760	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccccctgcctcacggtgatgTtgtccgtgcctcggttaaaa	6	11	10	14	3	1	1	1	1	0	0	3	1	2	1	5	2	2	2	5	2	2	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr3:116163760T>C	ENST00000490035.2	-	1	618	c.119A>G	c.(118-120)aAc>aGc	p.N40S	LSAMP_ENST00000539563.1_Missense_Mutation_p.N37S	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein		Ig-like C2-type 1.				cell adhesion|nervous system development	anchored to membrane|plasma membrane				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		CACGGTGATGTTGTCCGTGCC	0.572													C	116163760	T	C	116163760	3	2	771	1	0	0	0	0	1	0	0	0	9118	1725	60	3	925	3	LSAMP	3	116163760	Missense_Mutation	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08	46933076	116163760	81858670	9	57442											
DHX15	1665	broad.mit.edu	37	chr4	24578065	24578065	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	acgtgtgacctgcatgtccgGcatgcgttgaatgagcagaa	10	9	13	9	3	0	4	0	3	0	1	1	4	1	4	2	1	3	4	2	1	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:24578065G>A	ENST00000336812.4	-	2	464	c.308C>T	c.(307-309)gCc>gTc	p.A103V		NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15	103					mRNA processing	U12-type spliceosomal complex	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				TGCATGTCCGGCATGCGTTGA	0.458													A	24578065	G	A	24578065	3	1	771	1	0	0	0	0	1	0	0	0	4540	1203	42	2	2131	2	DHX15	4	24578065	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		24578065	166576211	10	57443											
PDGFRA	5156	broad.mit.edu	37	chr4	55133872	55133872	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgattgaaaatctcactgAgatcaccactgatgtggaaa	14	11	8	8	0	3	4	2	4	2	1	4	6	3	5	1	1	0	0	1	1	3	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr4:55133872A>C	ENST00000257290.5	+	7	1416	c.1085A>C	c.(1084-1086)gAg>gCg	p.E362A	FIP1L1_ENST00000507166.1_Intron	NM_006206.4	NP_006197.1	P16234	PGFRA_HUMAN	platelet-derived growth factor receptor, alpha polypeptide	362	Ig-like C2-type 4.				cardiac myofibril assembly|cell activation|luteinization|metanephric glomerular capillary formation|peptidyl-tyrosine phosphorylation|positive regulation of cell migration|positive regulation of DNA replication|positive regulation of fibroblast proliferation|protein autophosphorylation|retina vasculature development in camera-type eye	cytoplasm|integral to plasma membrane|nucleus	ATP binding|platelet-derived growth factor alpha-receptor activity|platelet-derived growth factor binding|platelet-derived growth factor receptor binding|protein homodimerization activity|vascular endothelial growth factor receptor activity			NS(1)|autonomic_ganglia(1)|bone(1)|breast(4)|central_nervous_system(17)|cervix(1)|endometrium(4)|eye(1)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(22)|kidney(6)|large_intestine(26)|liver(4)|lung(48)|ovary(4)|prostate(6)|skin(11)|small_intestine(49)|soft_tissue(727)|stomach(32)|urinary_tract(1)	967	all_cancers(7;0.000425)|all_lung(4;0.000343)|Lung NSC(11;0.000467)|all_epithelial(27;0.0131)|all_neural(26;0.0209)|Glioma(25;0.08)		GBM - Glioblastoma multiforme(1;4.18e-71)|all cancers(1;4.76e-45)|LUSC - Lung squamous cell carcinoma(32;0.00256)		Becaplermin(DB00102)|Imatinib(DB00619)|Sunitinib(DB01268)	AATCTCACTGAGATCACCACT	0.443			"Mis, O, T"	FIP1L1	"GIST, idiopathic hypereosinophilic syndrome, paediatric GBM"				Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Intestinal Neurofibromatosis	TSP Lung(21;0.16)			C	55133872	A	C	55133872	3	2	771	1	0	0	0	0	1	0	0	0	11737	304	11	5	1107	5	PDGFRA	4	55133872	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08	30555807	55133872	136020404	11	57444											
TAF9	6880	broad.mit.edu	37	chr5	68660800	68660800	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagtcatcatcatcatcAtcgtcatcatcatcatcttc	11	15	2	13	1	11	0	10	0	1	0	13	0	11	0	0	0	0	0	0	0	1	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:68660800A>G	ENST00000328663.4	-	3	1231	c.765T>C	c.(763-765)gaT>gaC	p.D255D	TAF9_ENST00000380818.3_Intron|TAF9_ENST00000380822.4_Intron|TAF9_ENST00000506736.1_Silent_p.D255D|TAF9_ENST00000502819.1_Intron|TAF9_ENST00000512561.1_Intron|TAF9_ENST00000217893.5_Silent_p.D255D	NM_001015892.1	NP_001015892.1	Q9Y3D8	KAD6_HUMAN	TAF9 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 32kDa	59						Cajal body	adenylate kinase activity|ATP binding|protein binding	p.D255D(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(4)|urinary_tract(1)	8		Lung NSC(167;7.26e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;1.1e-56)|Epithelial(20;9.54e-53)|all cancers(19;2.2e-48)|Lung(70;0.0176)		catcatcatcatcgtcatcat	0.318													G	68660800	A	G	68660800	2	3	771	1	0	0	0	0	0	0	0	1	15632	214	8	3		3	TAF9	5	68660800	Silent	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08		68660800	112254460	12	57445											
FBN2	2201	broad.mit.edu	37	chr5	127674745	127674745	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcaggagaaatcctgcactCgtcgatgtctaattcacagg	11	10	10	10	2	3	1	2	0	1	1	6	3	4	1	1	2	1	1	1	2	2	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr5:127674745C>A	ENST00000508053.1	-	32	4326	c.3352G>T	c.(3352-3354)Gag>Tag	p.E1118*	FBN2_ENST00000262464.4_Nonsense_Mutation_p.E1118*|FBN2_ENST00000508989.1_Nonsense_Mutation_p.E1085*|FBN2_ENST00000507835.1_5'UTR			P35556	FBN2_HUMAN	fibrillin 2	1118	EGF-like 16; calcium-binding.				bone trabecula formation|negative regulation of transforming growth factor beta receptor signaling pathway by extracellular sequestering of TGFbeta|positive regulation of bone mineralization|positive regulation of osteoblast differentiation	microfibril	calcium ion binding|extracellular matrix structural constituent			NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(37)|liver(1)|lung(89)|ovary(9)|pancreas(2)|prostate(6)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	197		all_cancers(142;0.0216)|Prostate(80;0.0551)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0821)|Epithelial(69;0.146)		ATCCTGCACTCGTCGATGTCT	0.458													A	127674745	C	A	127674745	4	1	771	1	0	0	0	0	0	1	0	0	5752	893	31	4	5546	4	FBN2	5	127674745	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	59013945	127674745	53240515	13	57446											
NFYA	4800	broad.mit.edu	37	chr6	41059406	41059407	+	Frame_Shift_Ins	INS	-	-	GTGGTCAA																															cactaccagtggcaggcaatINSgtggtcaattcaggagggat																										TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr6:41059406_41059407insGTGGTCAA	ENST00000341376.6	+	7	888_889	c.687_688insGTGGTCAA	c.(688-690)gtgfs	p.-230fs	OARD1_ENST00000480585.1_Intron|NFYA_ENST00000353205.5_Frame_Shift_Ins_p.-201fs	NM_002505.4	NP_002496.1	P23511	NFYA_HUMAN	nuclear transcription factor Y, alpha						transcription from RNA polymerase II promoter	CCAAT-binding factor complex	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	9	Ovarian(28;0.0418)|Colorectal(47;0.196)					TGGCAGGCAATGTGGTCAATTC	0.436													GTGGTCAA	41059407	-	GTGGTCAA	41059406	7	5	771	1	0	1	1	0	0	0	0	0	10465	1461	51	0	709	0	NFYA	6	41059406	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RS-01A-12D-A33T-08		41059406	130055661	14	57447											
AIMP2	7965	broad.mit.edu	37	chr7	6049111	6049111	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggagctacggcccagcgccGggcgctggccacgtgcaggt	6	4	17	14	5	0	0	0	0	0	0	0	1	0	1	3	5	4	3	3	5	1	1	rs150986274		TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:6049111G>A	ENST00000223029.3	+	1	236	c.117G>A	c.(115-117)ccG>ccA	p.P39P	AIMP2_ENST00000400479.2_Intron|AIMP2_ENST00000395236.2_Silent_p.P39P	NM_006303.3	NP_006294.2	Q13155	AIMP2_HUMAN	aminoacyl tRNA synthetase complex-interacting multifunctional protein 2	39					apoptosis|cell differentiation|multicellular organismal development|tRNA aminoacylation for protein translation	cytosol|nucleus	protein binding			large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13						GCCCAGCGCCGGGCGCTGGCC	0.761													A	6049111	G	A	6049111	2	1	771	1	0	0	0	0	0	0	0	1	434	1103	39	1		1	AIMP2	7	6049111	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		6049111	153089552	15	57448											
TYW1	55253	broad.mit.edu	37	chr7	66479413	66479413	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tacactgacggcctaccaacTgaaagtgcagagtggttctg	11	9	11	10	1	1	3	0	2	1	1	1	3	1	3	2	2	4	2	2	2	4	3	rs145686658	by1000genomes	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:66479413T>C	ENST00000359626.5	+	5	599	c.435T>C	c.(433-435)acT>acC	p.T145T		NM_018264.2	NP_060734.2	Q9NV66	TYW1_HUMAN	tRNA-yW synthesizing protein 1 homolog (S. cerevisiae)	145	Flavodoxin-like.				tRNA processing		4 iron, 4 sulfur cluster binding|FMN binding|iron ion binding|oxidoreductase activity	p.T145T(1)		breast(1)|endometrium(8)|kidney(10)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(3)|stomach(2)|urinary_tract(2)	46		Lung NSC(55;0.0846)|all_lung(88;0.183)				GCCTACCAACTGAAAGTGCAG	0.428													C	66479413	T	C	66479413	2	2	771	1	0	0	0	0	0	0	0	1	16920	1567	55	3		3	TYW1	7	66479413	Silent	SNP	T	TCGA-TQ-A7RS-01A-12D-A33T-08	60430302	66479413	92659250	16	57449											
MET	4233	broad.mit.edu	37	chr7	116414969	116414969	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tcatctcagaacggttcatgCcgacaagtgcagtatcctct	10	11	8	12	2	4	1	3	0	2	1	6	2	5	1	2	1	3	3	2	1	3	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr7:116414969C>T	ENST00000397752.3	+	15	3263	c.3063C>T	c.(3061-3063)tgC>tgT	p.C1021C	MET_ENST00000318493.6_Silent_p.C1039C	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	met proto-oncogene	1021					axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			ACGGTTCATGCCGACAAGTGC	0.413			Mis		"papillary renal, head-neck squamous cell "	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)				T	116414969	C	T	116414969	2	4	771	1	0	0	0	0	0	0	0	1	9560	747	26	2		2	MET	7	116414969	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	49935556	116414969	42723694	17	57450											
HABP4	22927	broad.mit.edu	37	chr9	99250419	99250419	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccatgttttccggaaacccGccaatgacatcacatcccag	11	8	6	16	2	1	1	1	1	0	0	3	2	3	2	5	1	1	1	5	1	2	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr9:99250419G>A	ENST00000375249.4	+	7	1123	c.1048G>A	c.(1048-1050)Gcc>Acc	p.A350T	HABP4_ENST00000466976.1_3'UTR|HABP4_ENST00000375251.3_Missense_Mutation_p.A245T	NM_014282.2	NP_055097.2	Q5JVS0	HABP4_HUMAN	hyaluronan binding protein 4	350					platelet activation|platelet degranulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|extracellular region|nucleus	protein binding			NS(1)|cervix(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	13		Acute lymphoblastic leukemia(62;0.0169)|all_hematologic(171;0.214)				CCGGAAACCCGCCAATGACAT	0.532													A	99250419	G	A	99250419	3	1	771	1	0	0	0	0	1	0	0	0	6994	1087	38	1	1074	1	HABP4	9	99250419	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		99250419	41963012	18	57451											
WDR37	22884	broad.mit.edu	37	chr10	1149739	1149739	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaccggacggcaaacctgtaCgacgtggagacgtccgagct	10	5	14	12	6	0	1	0	0	0	1	1	6	1	2	3	3	3	3	3	3	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:1149739C>T	ENST00000358220.1	+	10	1068	c.924C>T	c.(922-924)taC>taT	p.Y308Y	WDR37_ENST00000263150.4_Silent_p.Y308Y			Q9Y2I8	WDR37_HUMAN	WD repeat domain 37	308										breast(2)|endometrium(2)|kidney(1)|lung(9)|prostate(2)|skin(1)	17		all_epithelial(10;0.0449)|Colorectal(49;0.142)		Epithelial(11;0.134)		CAAACCTGTACGACGTGGAGA	0.612													T	1149739	C	T	1149739	2	4	771	1	0	0	0	0	0	0	0	1	17393	547	19	1		1	WDR37	10	1149739	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		1149739	134385008	19	57452											
KIAA1217	56243	broad.mit.edu	37	chr10	24833288	24833289	+	Frame_Shift_Del	DEL	AG	AG	-																															atacctcatgttcttccaacAgagattctgttgcaagttca																										TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr10:24833288_24833289delAG	ENST00000376451.2	+	14	4398_4399	c.4138_4139delAG	c.(4138-4140)agafs	p.R1380fs	KIAA1217_ENST00000458595.1_Intron|KIAA1217_ENST00000396445.1_Intron|KIAA1217_ENST00000376452.3_Intron|KIAA1217_ENST00000307544.6_Intron|KIAA1217_ENST00000396446.1_Intron|KIAA1217_ENST00000376462.1_Intron|KIAA1217_ENST00000376454.3_Frame_Shift_Del_p.R1697fs			Q5T5P2	SKT_HUMAN	KIAA1217	1697					embryonic skeletal system development	cytoplasm				breast(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(19)|lung(19)|ovary(5)|prostate(3)|skin(3)|urinary_tract(1)	70						TTCTTCCAACAGAGATTCTGTT	0.505													-	24833289	AG	-	24833288	7	5	771	1	0	1	0	1	0	0	0	0	8274	180	7	0	5163	0	KIAA1217	10	24833288	Frame_Shift_Del	DEL	AG	TCGA-TQ-A7RS-01A-12D-A33T-08	23683549	24833288	110701459	20	57453											
MPZL2	10205	broad.mit.edu	37	chr11	118133674	118133674	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggtcccccgtctagaggaCgaaaattccaggtcactgtt	10	9	10	12	2	2	1	1	0	1	1	4	3	4	2	3	3	0	1	3	3	3	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr11:118133674C>T	ENST00000278937.2	-	2	325	c.197G>A	c.(196-198)cGt>cAt	p.R66H	MPZL2_ENST00000438295.2_Missense_Mutation_p.R66H|MPZL2_ENST00000525647.1_5'UTR	NM_005797.3	NP_005788.1	O60487	MPZL2_HUMAN	myelin protein zero-like 2	66	Ig-like V-type.				anatomical structure morphogenesis|homophilic cell adhesion	cytoskeleton|integral to membrane				endometrium(1)|kidney(2)|large_intestine(5)|lung(2)|skin(1)	11	all_hematologic(175;0.046)	Medulloblastoma(222;0.0425)|Breast(348;0.181)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;3.04e-05)		GTCTAGAGGACGAAAATTCCA	0.468													T	118133674	C	T	118133674	3	4	771	1	0	0	0	0	1	0	0	0	9826	536	19	1	466	1	MPZL2	11	118133674	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		118133674	16872842	21	57454											
GRIP1	23426	broad.mit.edu	37	chr12	66909479	66909479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tactcatggcttcagcatgcGtagttccaagaagccgaatt	11	11	9	10	2	2	1	2	0	0	1	3	2	3	1	2	1	4	4	2	1	5	5	rs141923622	by1000genomes	TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:66909479G>A	ENST00000359742.4	-	7	884	c.644C>T	c.(643-645)aCg>aTg	p.T215M	GRIP1_ENST00000286445.7_Missense_Mutation_p.T215M|GRIP1_ENST00000398016.3_Missense_Mutation_p.T215M			Q9Y3R0	GRIP1_HUMAN	glutamate receptor interacting protein 1	215	PDZ 2.				androgen receptor signaling pathway|intracellular signal transduction|positive regulation of transcription, DNA-dependent|synaptic transmission	cell junction|cytoplasmic membrane-bounded vesicle|cytosol|endoplasmic reticulum|postsynaptic membrane	androgen receptor binding|beta-catenin binding|protein C-terminus binding|receptor signaling complex scaffold activity|transcription coactivator activity			NS(3)|breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(19)|ovary(2)|prostate(2)|skin(1)	50			GBM - Glioblastoma multiforme(2;0.00069)	GBM - Glioblastoma multiforme(28;0.0933)		TTCAGCATGCGTAGTTCCAAG	0.453													A	66909479	G	A	66909479	3	1	771	1	0	0	0	0	1	0	0	0	6842	1145	40	1	2658	1	GRIP1	12	66909479	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		66909479	66942416	22	57455											
SBNO1	55206	broad.mit.edu	37	chr12	123780522	123780522	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atagctgtttctgttggaccGcaagctgttgagactggtct	7	14	12	8	1	2	1	0	1	2	1	2	3	2	2	1	2	2	6	1	2	2	4			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr12:123780522G>A	ENST00000420886.2	-	31	4114	c.4115C>T	c.(4114-4116)gCg>gTg	p.A1372V	SBNO1_ENST00000267176.4_Missense_Mutation_p.A1371V|SBNO1_ENST00000602750.1_Missense_Mutation_p.A1371V|SBNO1_ENST00000602398.1_Missense_Mutation_p.A1372V	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1372							ATP binding|DNA binding|hydrolase activity	p.A1371V(2)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		CTGTTGGACCGCAAGCTGTTG	0.433													A	123780522	G	A	123780522	3	1	771	1	0	0	0	0	1	0	0	0	13954	1087	38	1	70	1	SBNO1	12	123780522	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	56871043	123780522	10071373	23	57456											
FOXA1	3169	broad.mit.edu	37	chr14	38061654	38061654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gcgcacccatggcgcccatgCcgctcgggctcagcgccgta	5	5	13	18	6	1	0	1	0	0	0	2	0	1	0	4	2	2	4	4	2	1	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr14:38061654C>T	ENST00000250448.2	-	2	396	c.335G>A	c.(334-336)gGc>gAc	p.G112D	FOXA1_ENST00000540786.1_Missense_Mutation_p.G79D|FOXA1_ENST00000545425.2_5'UTR	NM_004496.3	NP_004487.2	P55317	FOXA1_HUMAN	forkhead box A1	112					chromatin remodeling|embryo development|epithelial cell maturation involved in prostate gland development|epithelial tube branching involved in lung morphogenesis|epithelial-mesenchymal signaling involved in prostate gland development|glucose homeostasis|lung epithelial cell differentiation|negative regulation of survival gene product expression|neuron fate specification|pattern specification process|positive regulation of estrogen receptor signaling pathway|positive regulation of mitotic cell cycle|positive regulation of neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|prostate gland epithelium morphogenesis|prostate gland stromal morphogenesis|response to estradiol stimulus|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development	transcription factor complex	DNA bending activity|double-stranded DNA binding|protein domain specific binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(1)|endometrium(1)|large_intestine(2)|lung(3)|prostate(12)	19	Breast(36;0.0954)|Esophageal squamous(585;0.164)|Hepatocellular(127;0.213)		Lung(238;5.41e-07)|LUAD - Lung adenocarcinoma(48;2.48e-05)|Epithelial(34;0.0454)|LUSC - Lung squamous cell carcinoma(13;0.0917)|all cancers(34;0.0925)|BRCA - Breast invasive adenocarcinoma(188;0.239)	GBM - Glioblastoma multiforme(112;0.0222)		GGCGCCCATGCCGCTCGGGCT	0.741													T	38061654	C	T	38061654	3	4	771	1	0	0	0	0	1	0	0	0	6038	739	26	2	1087	2	FOXA1	14	38061654	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		38061654	69287886	24	57457											
G6PC	2538	broad.mit.edu	37	chr17	41052996	41052996	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggttcatcttggtgtccGtgatcgcagacctcaggaat	8	12	11	10	2	3	2	2	1	1	1	5	3	4	3	2	3	0	2	2	3	1	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr17:41052996G>A	ENST00000253801.2	+	1	182	c.103G>A	c.(103-105)Gtg>Atg	p.V35M	G6PC_ENST00000585489.1_Missense_Mutation_p.V35M|G6PC_ENST00000592383.1_Missense_Mutation_p.V35M	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	35					gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CTTGGTGTCCGTGATCGCAGA	0.498													A	41052996	G	A	41052996	3	1	771	1	0	0	0	0	1	0	0	0	6195	1145	40	1	105	1	G6PC	17	41052996	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		41052996	40142214	25	57458											
SERPINB4	6318	broad.mit.edu	37	chr18	61306946	61306946	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgccctttgaaatagattgcGttcacaagaaccagtgtcgt	11	12	9	9	2	1	3	1	1	0	2	2	3	1	3	2	0	3	1	2	0	4	4			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr18:61306946G>A	ENST00000341074.5	-	6	649	c.534C>T	c.(532-534)aaC>aaT	p.N178N	SERPINB4_ENST00000356424.6_Silent_p.N178N	NM_002974.2	NP_002965.1			serpin peptidase inhibitor, clade B (ovalbumin), member 4											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						AATAGATTGCGTTCACAAGAA	0.318													A	61306946	G	A	61306946	2	1	771	1	0	0	0	0	0	0	0	1	14196	1136	40	1		1	SERPINB4	18	61306946	Silent	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08		61306946	16770302	26	57459											
LPHN1	22859	broad.mit.edu	37	chr19	14266957	14266957	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cggctggagtcgggcttgagCacagatgagcttcggatcat	8	9	15	9	3	1	3	1	2	0	1	3	5	1	5	0	4	2	4	0	4	0	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:14266957C>A	ENST00000340736.6	-	18	3402	c.3105G>T	c.(3103-3105)gtG>gtT	p.V1035V	CTB-55O6.12_ENST00000588387.1_RNA|LPHN1_ENST00000361434.3_Silent_p.V1030V|CTB-55O6.12_ENST00000592086.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	1035					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						CGGGCTTGAGCACAGATGAGC	0.667													A	14266957	C	A	14266957	2	1	771	1	0	0	0	0	0	0	0	1	8985	697	25	4		4	LPHN1	19	14266957	Silent	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		14266957	44862026	27	57460											
RYR1	6261	broad.mit.edu	37	chr19	38991258	38991258	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccccagctaatccaagccGgcaagggtgaggccctgcgg	8	5	13	15	2	0	1	0	1	0	0	2	1	2	1	5	4	3	2	5	4	3	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:38991258G>A	ENST00000355481.4	+	46	7467	c.7336G>A	c.(7336-7338)Ggc>Agc	p.G2446S	RYR1_ENST00000359596.3_Missense_Mutation_p.G2446S|RYR1_ENST00000360985.3_Missense_Mutation_p.G2446S	NM_000540.2|NM_001042723.1	NP_000531.2|NP_001036188.1	P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2446	6 X approximate repeats.				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Dantrolene(DB01219)	AATCCAAGCCGGCAAGGGTGA	0.637													A	38991258	G	A	38991258	3	1	771	1	0	0	0	0	1	0	0	0	13859	1116	39	1	7518	1	RYR1	19	38991258	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	24724301	38991258	20137725	28	57461											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	10	6	13	12	2	1	2	1	1	0	1	2	4	2	3	4	4	1	0	4	4	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000575354.2_Missense_Mutation_p.R202W|CIC_ENST00000160740.3_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								T	42791718	C	T	42791718	3	4	771	1	0	0	0	0	1	0	0	0	3454	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	3800460	42791718	16337265	29	57462			1	94		2	2	89	N	G_C	9.948868e-05
CIC	23152	broad.mit.edu	37	chr19	42791806	42791806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccaggacaaccggaccgtcaGcaagatcctgggcgagtggt	10	5	14	12	3	1	1	1	0	0	1	2	4	2	3	4	4	2	1	4	4	2	0			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:42791806G>T	ENST00000572681.2	+	6	3487	c.3419G>T	c.(3418-3420)aGc>aTc	p.S1140I	CIC_ENST00000575354.2_Missense_Mutation_p.S231I|CIC_ENST00000160740.3_Missense_Mutation_p.S231I			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	231	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CGGACCGTCAGCAAGATCCTG	0.622			"Mis, F, S"		oligodendroglioma								T	42791806	G	T	42791806	3	4	771	1	0	0	0	0	1	0	0	0	3454	971	34	4	710	4	CIC	19	42791806	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	88	42791806	16337177	30	57463			1	94		2	2	89	N	G_C	9.948868e-05
NLRP4	147945	broad.mit.edu	37	chr19	56370141	56370141	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tatccaggagttctgtgccgCcttgttctatttgctcaaga	7	15	9	10	1	3	1	1	0	2	1	4	2	4	2	3	1	2	3	3	1	3	6			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr19:56370141C>T	ENST00000301295.6	+	3	1804	c.1382C>T	c.(1381-1383)gCc>gTc	p.A461V	NLRP4_ENST00000587891.1_Missense_Mutation_p.A386V|NLRP4_ENST00000346986.5_Missense_Mutation_p.A461V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	461	NACHT.						ATP binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TTCTGTGCCGCCTTGTTCTAT	0.512													T	56370141	C	T	56370141	3	4	771	1	0	0	0	0	1	0	0	0	10555	739	26	2	1388	2	NLRP4	19	56370141	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08	13578335	56370141	2758842	31	57464											
C20orf194	25943	broad.mit.edu	37	chr20	3268422	3268422	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagctgtccatgatttggCgatacaccatccatctggaa	11	10	9	11	1	1	2	0	1	1	1	3	4	3	3	3	2	2	1	3	2	2	2			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chr20:3268422C>T	ENST00000252032.9	-	27	2409	c.2342G>A	c.(2341-2343)cGc>cAc	p.R781H	C20orf194_ENST00000453730.2_Silent_p.S489S	NM_001009984.2	NP_001009984.1	Q5TEA3	CT194_HUMAN	chromosome 20 open reading frame 194	781								p.R781H(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(15)|prostate(2)|skin(1)	39						CATGATTTGGCGATACACCAT	0.522													T	3268422	C	T	3268422	3	4	771	1	0	0	0	0	1	0	0	0	2120	768	27	1	1235	1	C20orf194	20	3268422	Missense_Mutation	SNP	C	TCGA-TQ-A7RS-01A-12D-A33T-08		3268422	59757098	32	57465											
AMELX	265	broad.mit.edu	37	chrX	11316389	11316389	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgaagtggtaccagagcataAggccaccggtatgtagacat	13	8	12	8	1	0	3	0	1	0	2	0	3	0	3	3	3	2	4	3	3	5	4			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:11316389A>T	ENST00000380712.3	+	5	246	c.178A>T	c.(178-180)Agg>Tgg	p.R60W	AMELX_ENST00000348912.4_Missense_Mutation_p.R30W|ARHGAP6_ENST00000380732.3_Intron|ARHGAP6_ENST00000380736.1_Intron|ARHGAP6_ENST00000380718.1_Intron|ARHGAP6_ENST00000413512.3_Intron|ARHGAP6_ENST00000337414.4_Intron|AMELX_ENST00000380714.3_Missense_Mutation_p.R46W	NM_182680.1	NP_872621.1	Q99217	AMELX_HUMAN	amelogenin, X-linked	46					cell adhesion|cell proliferation|chondrocyte differentiation|enamel mineralization|epithelial to mesenchymal transition|ion homeostasis|odontogenesis of dentine-containing tooth|osteoblast differentiation|positive regulation of collagen biosynthetic process|positive regulation of tooth mineralization|signal transduction	proteinaceous extracellular matrix	cell surface binding|growth factor activity|hydroxyapatite binding|identical protein binding|structural constituent of tooth enamel			endometrium(3)|kidney(2)|large_intestine(1)|lung(9)	15						CCAGAGCATAAGGCCACCGGT	0.353													T	11316389	A	T	11316389	3	4	771	1	0	0	0	0	1	0	0	0	569	63	3	5	192	5	AMELX	23	11316389	Missense_Mutation	SNP	A	TCGA-TQ-A7RS-01A-12D-A33T-08		11316389	143954171	33	57466											
AMMECR1	9949	broad.mit.edu	37	chrX	109561295	109561295	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaccccgcagcaacccgccGccatcttggaacagtctccc	8	6	7	20	3	3	0	1	0	2	0	4	1	3	1	6	1	3	2	6	1	2	1			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:109561295G>A	ENST00000262844.5	-	1	172	c.5C>T	c.(4-6)gCg>gTg	p.A2V	AMMECR1_ENST00000372059.2_Missense_Mutation_p.A2V|AMMECR1_ENST00000372057.1_Intron	NM_015365.2	NP_056180.1	Q9Y4X0	AMER1_HUMAN	Alport syndrome, mental retardation, midface hypoplasia and elliptocytosis chromosomal region gene 1	2										large_intestine(1)|lung(4)|ovary(1)|stomach(1)	7						GCAACCCGCCGCCATCTTGGA	0.706													A	109561295	G	A	109561295	3	1	771	1	0	0	0	0	1	0	0	0	578	1087	38	1	1020	1	AMMECR1	23	109561295	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	98244906	109561295	45709265	34	57467											
BCORL1	63035	broad.mit.edu	37	chrX	129149179	129149179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tgtggaaacccacggggccgGcaaatatttatccccggtgt	9	9	12	11	3	0	0	0	0	0	0	1	1	1	1	4	5	1	1	4	5	4	3			TCGA-TQ-A7RS-01A-12D-A33T-08	TCGA-TQ-A7RS-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	373b1912-8893-47f0-8469-57ec821e1abc	40f76fea-b2e1-4943-a1ae-608e9a33f474	g.chrX:129149179G>A	ENST00000540052.1	+	3	2475	c.2431G>A	c.(2431-2433)Gca>Aca	p.A811T	BCORL1_ENST00000359304.2_Missense_Mutation_p.A811T|BCORL1_ENST00000303743.5_Missense_Mutation_p.A811T|BCORL1_ENST00000218147.7_Missense_Mutation_p.A811T	NM_021946.4	NP_068765	Q5H9F3	BCORL_HUMAN	BCL6 corepressor-like 1	811					chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus				breast(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|liver(3)|lung(30)|ovary(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	75						CACGGGGCCGGCAAATATTTA	0.572													A	129149179	G	A	129149179	3	1	771	1	0	0	0	0	1	0	0	0	1392	1203	42	2	2441	2	BCORL1	23	129149179	Missense_Mutation	SNP	G	TCGA-TQ-A7RS-01A-12D-A33T-08	19587884	129149179	26121381	35	57468											
C4BPA	722	broad.mit.edu	37	chr1	207307914	207307914	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aggagatggcacgtggagtcCccgaacaccatcatgtggag	11	6	14	10	2	1	1	1	0	0	1	2	5	2	3	3	4	1	1	3	4	1	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr1:207307914C>T	ENST00000367070.3	+	9	1444	c.1250C>T	c.(1249-1251)cCc>cTc	p.P417L		NM_000715.3	NP_000706.1	P04003	C4BPA_HUMAN	complement component 4 binding protein, alpha	417	Sushi 6.				complement activation, classical pathway|innate immune response	extracellular region	protein binding	p.P417L(1)		breast(1)|central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(1)|urinary_tract(2)	28						ACGTGGAGTCCCCGAACACCA	0.393													T	207307914	C	T	207307914	3	4	772	1	0	0	0	0	1	0	0	0	2271	623	22	2	1280	2	C4BPA	1	207307914	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		207307914	41942707	1	57469											
ST3GAL5	8869	broad.mit.edu	37	chr2	86073608	86073608	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtcagacagtggtgcGccctctggataagtcatcct	9	10	11	11	1	4	1	3	0	1	1	5	2	5	2	2	3	1	0	2	3	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:86073608G>A	ENST00000377332.3	-	5	849	c.741C>T	c.(739-741)ggC>ggT	p.G247G	ST3GAL5_ENST00000393808.3_Silent_p.G224G|ST3GAL5_ENST00000393805.1_Silent_p.G219G	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	247					ganglioside biosynthetic process|protein glycosylation	integral to Golgi membrane|integral to plasma membrane	lactosylceramide alpha-2,3-sialyltransferase activity|neolactotetraosylceramide alpha-2,3-sialyltransferase activity			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						ACAGTGGTGCGCCCTCTGGAT	0.348													A	86073608	G	A	86073608	2	1	772	1	0	0	0	0	0	0	0	1	15314	1074	38	1		1	ST3GAL5	2	86073608	Silent	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		86073608	157125765	2	57470											
TTN	7273	broad.mit.edu	37	chr2	179569118	179569118	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agagtcacatcctgaagatgCcgttcccatgcaggctctgt	9	10	10	12	1	2	3	1	1	1	2	4	3	4	3	3	1	2	3	3	1	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:179569118C>T	ENST00000589042.1	-	106	30203	c.29979G>A	c.(29977-29979)cgG>cgA	p.R9993R	TTN_ENST00000591111.1_Silent_p.R9676R|TTN_ENST00000342992.6_Silent_p.R8749R|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	9676	Glu-rich.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTGAAGATGCCGTTCCCATG	0.403													T	179569118	C	T	179569118	2	4	772	1	0	0	0	0	0	0	0	1	16837	726	26	2		2	TTN	2	179569118	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	93495510	179569118	63630255	3	57471											
DNAH7	56171	broad.mit.edu	37	chr2	196619149	196619149	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggaattgtgtatttcctggcGtagttctgctgggcaccggt	5	14	14	8	2	1	0	0	0	1	0	2	1	2	1	2	4	1	5	2	4	3	5			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr2:196619149G>A	ENST00000312428.6	-	63	11776	c.11676C>T	c.(11674-11676)taC>taT	p.Y3892Y	DNAH7_ENST00000409063.1_Silent_p.Y375Y	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3892					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATTTCCTGGCGTAGTTCTGCT	0.478													A	196619149	G	A	196619149	2	1	772	1	0	0	0	0	0	0	0	1	4645	1140	40	1		1	DNAH7	2	196619149	Silent	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	17050031	196619149	46580224	4	57472											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	772	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	12493963	209113112	34086261	5	57473											
CLSTN2	64084	broad.mit.edu	37	chr3	140178466	140178466	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gagatgatcttcaagtttgaCggcaggcagggtgccaaagt	11	9	14	7	1	2	3	1	2	1	1	2	4	2	3	1	3	1	3	1	3	2	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:140178466C>T	ENST00000458420.3	+	7	1267	c.1077C>T	c.(1075-1077)gaC>gaT	p.D359D	RP11-68L1.2_ENST00000503357.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	359					homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TCAAGTTTGACGGCAGGCAGG	0.577										HNSCC(16;0.037)			T	140178466	C	T	140178466	2	4	772	1	0	0	0	0	0	0	0	1	3593	535	19	1		1	CLSTN2	3	140178466	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		140178466	57843964	6	57474											
PLS1	5357	broad.mit.edu	37	chr3	142389859	142389859	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgcaagaattaaaaagcaaaGatatcagcaaaacattccga	21	7	6	7	1	1	2	1	0	0	2	2	3	2	2	1	0	4	3	1	0	9	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr3:142389859G>C	ENST00000337777.3	+	4	472	c.259G>C	c.(259-261)Gat>Cat	p.D87H	PLS1_ENST00000497002.1_Missense_Mutation_p.D87H|PLS1_ENST00000457734.2_Missense_Mutation_p.D87H	NM_002670.2	NP_002661.2	Q14651	PLSI_HUMAN	plastin 1	87						cytoplasm	actin filament binding|calcium ion binding|structural constituent of cytoskeleton			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|skin(1)|stomach(1)	27						AAAAAGCAAAGATATCAGCAA	0.323													C	142389859	G	C	142389859	3	2	772	1	0	0	0	0	1	0	0	0	12184	942	33	4	269	4	PLS1	3	142389859	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	2211393	142389859	55632571	7	57475											
OCIAD1	54940	broad.mit.edu	37	chr4	48835438	48835438	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	acatagggcctgattacattCcaacagaggaagaaaggaga	17	6	11	7	0	0	4	0	1	0	3	1	6	1	5	2	3	2	0	2	3	5	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:48835438C>T	ENST00000425583.2	+	3	354	c.79C>T	c.(79-81)Cca>Tca	p.P27S	OCIAD1_ENST00000264312.7_Missense_Mutation_p.P27S|OCIAD1_ENST00000513391.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000381473.3_Missense_Mutation_p.P27S|OCIAD1_ENST00000508293.1_Missense_Mutation_p.P27S|OCIAD1_ENST00000444354.2_Missense_Mutation_p.P27S|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000396448.2_Missense_Mutation_p.P27S	NM_001079842.2	NP_001073311.2	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1	27	OCIA.					endosome	protein binding			breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						TGATTACATTCCAACAGAGGA	0.318													T	48835438	C	T	48835438	3	4	772	1	0	0	0	0	1	0	0	0	10893	855	30	2	104	2	OCIAD1	4	48835438	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		48835438	142318838	8	57476											
NEK1	4750	broad.mit.edu	37	chr4	170428869	170428869	+	Silent	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatttctagtctataccttCagtgattcgatttttttgcg	7	20	6	8	2	4	1	2	1	2	0	5	2	4	1	1	0	2	0	1	0	3	9			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr4:170428869C>A	ENST00000439128.2	-	20	2464	c.1824G>T	c.(1822-1824)ctG>ctT	p.L608L	NEK1_ENST00000507142.1_Silent_p.L636L|NEK1_ENST00000512193.1_Silent_p.L539L|NEK1_ENST00000510533.1_Silent_p.L564L|NEK1_ENST00000511633.1_Silent_p.L592L	NM_012224.2	NP_036356.1	Q96PY6	NEK1_HUMAN	NIMA-related kinase 1	608					cell division|cilium assembly|mitosis	nucleus|pericentriolar material	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|ovary(2)|prostate(2)|stomach(1)	45		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)|KIRC - Kidney renal clear cell carcinoma(143;0.0325)|Kidney(143;0.0385)|LUSC - Lung squamous cell carcinoma(193;0.14)		TCTATACCTTCAGTGATTCGA	0.338													A	170428869	C	A	170428869	2	1	772	1	0	0	0	0	0	0	0	1	10397	813	29	4		4	NEK1	4	170428869	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	121593431	170428869	20725407	9	57477											
SKP2	6502	broad.mit.edu	37	chr5	36184025	36184025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cagaacttccaaactcaagtCcagccataagctattttgcc	13	10	5	13	0	1	1	1	0	0	1	3	1	3	1	4	0	5	1	4	0	5	5			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr5:36184025C>T	ENST00000274254.5	+	10	1419	c.1145C>T	c.(1144-1146)tCc>tTc	p.S382F	SKP2_ENST00000274255.6_3'UTR	NM_032637.3	NP_116026.1	Q13309	SKP2_HUMAN	S-phase kinase-associated protein 2, E3 ubiquitin protein ligase	0					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|G1/S transition of mitotic cell cycle|S phase of mitotic cell cycle	nucleoplasm|SCF ubiquitin ligase complex	protein binding			breast(1)|central_nervous_system(2)|ovary(1)	4	all_lung(31;5.63e-05)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AAACTCAAGTCCAGCCATAAG	0.353													T	36184025	C	T	36184025	3	4	772	1	0	0	0	0	1	0	0	0	14456	855	30	2	1401	2	SKP2	5	36184025	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		36184025	144731235	10	57478											
SOX4	6659	broad.mit.edu	37	chr6	21595634	21595636	+	In_Frame_Del	DEL	AGA	AGA	-																															cccgggcaagcacctggcggAgaagaaggtgaagcgcgtct																										TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:21595634_21595636delAGA	ENST00000244745.1	+	1	1663_1665	c.869_871delAGA	c.(868-873)gagaag>gag	p.K292del	SOX4_ENST00000543472.1_In_Frame_Del_p.K292del	NM_003107.2	NP_003098.1	Q06945	SOX4_HUMAN	SRY (sex determining region Y)-box 4	292					canonical Wnt receptor signaling pathway|cardiac ventricle formation|cellular response to glucose stimulus|DNA damage response, detection of DNA damage|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|glial cell development|glial cell proliferation|limb bud formation|negative regulation of apoptosis|negative regulation of cell proliferation|negative regulation of protein export from nucleus|negative regulation of protein ubiquitination|neural tube formation|neuroepithelial cell differentiation|noradrenergic neuron differentiation|positive regulation of apoptosis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell proliferation|positive regulation of insulin secretion|positive regulation of N-terminal peptidyl-lysine acetylation|positive regulation of translation|pro-B cell differentiation|protein stabilization|skeletal system development|spinal cord motor neuron differentiation|sympathetic nervous system development|T cell differentiation	mitochondrion|nucleus	core promoter sequence-specific DNA binding|protein binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|RNA polymerase II transcription coactivator activity			kidney(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	6	Ovarian(93;0.163)		all cancers(50;0.0751)|Epithelial(50;0.155)			CACCTGGCGGAGAAGAAGGTGAA	0.754													-	21595636	AGA	-	21595634	7	5	772	1	0	1	0	1	0	0	0	0	15047	304	11	0	871	0	SOX4	6	21595634	In_Frame_Del	DEL	AGA	TCGA-TQ-A7RU-01A-21D-A34A-08		21595634	149519433	11	57479											
ITPR3	3710	broad.mit.edu	37	chr6	33635015	33635015	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccctaccagcacatgttccGcctgtgctaccgcgtgttgc	5	10	9	17	3	0	0	0	0	0	0	1	0	1	0	6	0	5	4	6	0	2	4			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:33635015G>A	ENST00000374316.5	+	16	2721	c.1661G>A	c.(1660-1662)cGc>cAc	p.R554H	ITPR3_ENST00000605930.1_Missense_Mutation_p.R554H			Q14573	ITPR3_HUMAN	inositol 1,4,5-trisphosphate receptor, type 3	554					activation of phospholipase C activity|calcium ion transport into cytosol|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|nerve growth factor receptor signaling pathway|platelet activation|protein heterooligomerization|protein homooligomerization|regulation of insulin secretion|response to calcium ion	apical part of cell|brush border|endoplasmic reticulum membrane|integral to plasma membrane|myelin sheath|neuronal cell body|nuclear outer membrane|platelet dense tubular network membrane	inositol 1,3,4,5 tetrakisphosphate binding|inositol 1,4,5 trisphosphate binding|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity|inositol hexakisphosphate binding|intracellular ligand-gated calcium channel activity|protein binding			NS(1)|breast(6)|central_nervous_system(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(24)|ovary(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	85						CACATGTTCCGCCTGTGCTAC	0.642													A	33635015	G	A	33635015	3	1	772	1	0	0	0	0	1	0	0	0	7980	1087	38	1	1719	1	ITPR3	6	33635015	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	12039381	33635015	137480052	12	57480											
MDGA1	266727	broad.mit.edu	37	chr6	37613989	37613989	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctacgctctgtgtagtggaTgatgcgggaggccatgtcac	7	10	14	10	2	2	1	1	1	1	0	2	3	2	3	2	3	2	2	2	3	2	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:37613989T>C	ENST00000297153.7	-	12	3396	c.2218A>G	c.(2218-2220)Atc>Gtc	p.I740V	MDGA1_ENST00000434837.3_Missense_Mutation_p.I737V|MDGA1_ENST00000505425.1_Missense_Mutation_p.I737V			Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	737					brain development|neuron migration|spinal cord association neuron differentiation	anchored to plasma membrane				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						GTGTAGTGGATGATGCGGGAG	0.592													C	37613989	T	C	37613989	3	2	772	1	0	0	0	0	1	0	0	0	9481	1464	51	3	686	3	MDGA1	6	37613989	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	3978974	37613989	133501078	13	57481											
TDRD6	221400	broad.mit.edu	37	chr6	46656880	46656880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgagacttttcggccccagCgctgtgcccaggtgcttcat	5	12	11	13	2	1	1	1	1	0	1	2	2	1	1	3	2	3	2	3	2	0	4			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:46656880C>T	ENST00000544460.1	+	1	1269	c.1015C>T	c.(1015-1017)Cgc>Tgc	p.R339C	TDRD6_ENST00000316081.6_Missense_Mutation_p.R339C	NM_001168359.1	NP_001161831.1	O60522	TDRD6_HUMAN	tudor domain containing 6	339	Tudor 2.				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding			NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TCGGCCCCAGCGCTGTGCCCA	0.557													T	46656880	C	T	46656880	3	4	772	1	0	0	0	0	1	0	0	0	15834	768	27	1	1017	1	TDRD6	6	46656880	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	9042891	46656880	124458187	14	57482											
FHL5	9457	broad.mit.edu	37	chr6	97052768	97052768	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttctaacgagtgctcctccaAgtgcttccactgcaagagga	10	10	9	12	1	1	1	0	0	1	1	4	3	4	2	3	1	4	3	3	1	3	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:97052768A>G	ENST00000326771.2	+	4	682	c.302A>G	c.(301-303)aAg>aGg	p.K101R	FHL5_ENST00000541107.1_Missense_Mutation_p.K101R	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	101	LIM zinc-binding 2.					nucleus	zinc ion binding			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		TGCTCCTCCAAGTGCTTCCAC	0.512													G	97052768	A	G	97052768	3	3	772	1	0	0	0	0	1	0	0	0	5930	72	3	3	308	3	FHL5	6	97052768	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08	50395888	97052768	74062299	15	57483											
REV3L	5980	broad.mit.edu	37	chr6	111710363	111710363	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atttctgtttcttcgccgttGcttttcatcttcccatatgg	4	20	6	11	2	4	0	1	0	3	0	6	0	5	0	2	1	1	3	2	1	1	8			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr6:111710363G>A	ENST00000435970.1	-	9	1390	c.574C>T	c.(574-576)Caa>Taa	p.Q192*	REV3L_ENST00000358835.3_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368805.1_Nonsense_Mutation_p.Q270*|REV3L_ENST00000368802.3_Nonsense_Mutation_p.Q270*			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	270					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		CTTCGCCGTTGCTTTTCATCT	0.373								DNA polymerases (catalytic subunits)					A	111710363	G	A	111710363	4	1	772	1	0	0	0	0	0	1	0	0	13328	1328	46	2	8688	2	REV3L	6	111710363	Nonsense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	14657595	111710363	59404704	16	57484											
ZMIZ2	83637	broad.mit.edu	37	chr7	44805118	44805119	+	Frame_Shift_Ins	INS	-	-	C																															cgccctgggccccggcgctgINSccccctttgcccccctgcag																										TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:44805118_44805119insC	ENST00000309315.4	+	16	2305_2306	c.2182_2183insC	c.(2182-2184)gccfs	p.A728fs	ZMIZ2_ENST00000441627.1_Frame_Shift_Ins_p.A728fs|ZMIZ2_ENST00000413916.1_Frame_Shift_Ins_p.A670fs|ZMIZ2_ENST00000265346.7_Frame_Shift_Ins_p.A702fs|ZMIZ2_ENST00000433667.1_Frame_Shift_Ins_p.A696fs	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	728	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCCCGGCGCTGCCCCCTTTGCC	0.698													C	44805119	-	C	44805118	7	5	772	1	0	1	1	0	0	0	0	0	17798	1319	46	0	2240	0	ZMIZ2	7	44805118	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RU-01A-21D-A34A-08		44805118	114333545	17	57485											
DBF4	10926	broad.mit.edu	37	chr7	87530171	87530171	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atattgtgaatgttgcttgcAgaaatatgaagatctagaaa	16	13	9	3	0	1	5	0	2	1	3	1	5	1	5	0	0	2	3	0	0	7	6			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:87530171A>G	ENST00000265728.1	+	10	1406	c.902A>G	c.(901-903)cAg>cGg	p.Q301R		NM_006716.3	NP_006707.1	Q9UBU7	DBF4A_HUMAN	DBF4 homolog (S. cerevisiae)	301					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	enzyme activator activity|nucleic acid binding|protein binding|zinc ion binding			endometrium(4)|kidney(1)|large_intestine(6)|lung(13)|ovary(1)|skin(3)	28	Esophageal squamous(14;0.00202)	Breast(660;0.0334)				TGTTGCTTGCAGAAATATGAA	0.333													G	87530171	A	G	87530171	3	3	772	1	0	0	0	0	1	0	0	0	4282	188	7	3	940	3	DBF4	7	87530171	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08	42725053	87530171	71608492	18	57486											
EPO	2056	broad.mit.edu	37	chr7	100320317	100320317	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aggccgtagaagtctggcagGgcctggccctgctgtcggaa	7	7	16	11	2	1	1	0	0	1	1	2	2	1	2	3	5	1	3	3	5	3	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr7:100320317G>T	ENST00000252723.2	+	4	458	c.277G>T	c.(277-279)Ggc>Tgc	p.G93C		NM_000799.2	NP_000790.2	P01588	EPO_HUMAN	erythropoietin	93					blood circulation|cellular hyperosmotic response|erythrocyte maturation|negative regulation of apoptosis|negative regulation of ion transmembrane transporter activity|negative regulation of sodium ion transport|positive regulation of cell proliferation|positive regulation of DNA replication|positive regulation of Ras protein signal transduction|positive regulation of transcription, DNA-dependent|positive regulation of tyrosine phosphorylation of Stat5 protein|signal transduction	extracellular space	erythropoietin receptor binding|eukaryotic cell surface binding|hormone activity			central_nervous_system(2)|endometrium(2)|lung(7)|prostate(1)	12	Lung NSC(181;0.041)|all_lung(186;0.0581)				Darbepoetin alfa(DB00012)|Epoetin alfa(DB00016)	AGTCTGGCAGGGCCTGGCCCT	0.657													T	100320317	G	T	100320317	3	4	772	1	0	0	0	0	1	0	0	0	5229	1232	43	4	291	4	EPO	7	100320317	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	12790146	100320317	58818346	19	57487											
TRPA1	8989	broad.mit.edu	37	chr8	72942140	72942140	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggcactgcacttacctgcAtagctatcctcttcaatgat	10	12	7	12	0	2	1	1	1	1	0	3	2	3	1	2	1	4	4	2	1	4	4			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:72942140A>G	ENST00000262209.4	-	24	3140	c.2933T>C	c.(2932-2934)aTg>aCg	p.M978T	RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	978						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ACTTACCTGCATAGCTATCCT	0.388													G	72942140	A	G	72942140	3	3	772	1	0	0	0	0	1	0	0	0	16678	217	8	3	442	3	TRPA1	8	72942140	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		72942140	73421882	20	57488											
TMEM70	54968	broad.mit.edu	37	chr8	74891077	74891077	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggctaatttatactggcaaTatggcccgagcagtgtttgg	10	12	12	7	1	0	0	0	0	0	0	0	1	0	0	1	4	2	4	1	4	5	6			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:74891077T>G	ENST00000312184.5	+	2	370	c.297T>G	c.(295-297)aaT>aaG	p.N99K	TMEM70_ENST00000517439.1_Missense_Mutation_p.N99K	NM_001040613.2|NM_017866.5	NP_001035703.1|NP_060336.3	Q9BUB7	TMM70_HUMAN	transmembrane protein 70	99					mitochondrial proton-transporting ATP synthase complex assembly	integral to mitochondrial membrane|mitochondrial inner membrane				breast(1)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	8	Breast(64;0.0311)		Epithelial(68;0.0186)|BRCA - Breast invasive adenocarcinoma(89;0.0499)|all cancers(69;0.0564)			ATACTGGCAATATGGCCCGAG	0.358													G	74891077	T	G	74891077	3	3	772	1	0	0	0	0	1	0	0	0	16299	1403	49	5	303	5	TMEM70	8	74891077	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	1948937	74891077	71472945	21	57489											
SLC7A13	157724	broad.mit.edu	37	chr8	87229959	87229959	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtctcgatgatttaaataTagaaatcagaaggttgctaa	15	13	9	4	1	2	3	1	1	1	2	3	4	2	3	0	2	1	2	0	2	7	6			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:87229959T>C	ENST00000297524.3	-	3	1022	c.919A>G	c.(919-921)Ata>Gta	p.I307V	SLC7A13_ENST00000520624.1_5'UTR|SLC7A13_ENST00000419776.2_Missense_Mutation_p.I298V	NM_138817.2	NP_620172.2	Q8TCU3	S7A13_HUMAN	solute carrier family 7 (anionic amino acid transporter), member 13	307						integral to membrane	amino acid transmembrane transporter activity			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(24)|ovary(1)|pancreas(1)|prostate(1)|skin(3)	45						GATTTAAATATAGAAATCAGA	0.388													C	87229959	T	C	87229959	3	2	772	1	0	0	0	0	1	0	0	0	14789	1406	49	3	501	3	SLC7A13	8	87229959	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	12338882	87229959	59134063	22	57490											
COLEC10	10584	broad.mit.edu	37	chr8	120079533	120079533	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccacagcaatgaatggctttGcatccttgcttcgaagaaac	12	10	8	11	1	0	2	0	1	0	1	2	3	1	2	2	1	4	4	2	1	4	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr8:120079533G>T	ENST00000332843.2	+	1	54	c.13G>T	c.(13-15)Gca>Tca	p.A5S	COLEC10_ENST00000521788.1_Intron|RP11-278I4.2_ENST00000518362.1_RNA	NM_006438.3	NP_006429.2	Q9Y6Z7	COL10_HUMAN	collectin sub-family member 10 (C-type lectin)	5						collagen|cytoplasm	mannose binding			endometrium(2)|kidney(3)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	21	all_cancers(13;4.13e-26)|Lung NSC(37;1.36e-07)|Ovarian(258;0.018)|Hepatocellular(40;0.234)		STAD - Stomach adenocarcinoma(47;0.00113)			GAATGGCTTTGCATCCTTGCT	0.423													T	120079533	G	T	120079533	3	4	772	1	0	0	0	0	1	0	0	0	3741	1319	46	4	15	4	COLEC10	8	120079533	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	32849574	120079533	26284489	23	57491											
GLIS3	169792	broad.mit.edu	37	chr9	4118080	4118080	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agctccgggtggtgaaggtgCgcatgggcatggtaaggggg	7	7	21	6	2	0	1	0	1	0	0	1	1	1	1	1	7	2	4	1	7	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:4118080C>T	ENST00000324333.10	-	3	1126	c.933G>A	c.(931-933)gcG>gcA	p.A311A	GLIS3_ENST00000381971.3_Silent_p.A466A	NM_152629.3	NP_689842.3	Q8NEA6	GLIS3_HUMAN	GLIS family zinc finger 3	311					negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter		DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(12)|lung(4)|ovary(2)|prostate(1)|skin(1)	26		Acute lymphoblastic leukemia(2;0.00464)|Breast(48;0.148)		Lung(2;0.00163)|GBM - Glioblastoma multiforme(50;0.00301)|LUSC - Lung squamous cell carcinoma(2;0.0148)		GGTGAAGGTGCGCATGGGCAT	0.736													T	4118080	C	T	4118080	2	4	772	1	0	0	0	0	0	0	0	1	6503	755	27	1		1	GLIS3	9	4118080	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		4118080	137095351	24	57492											
CDKN2A	1029	broad.mit.edu	37	chr9	21994137	21994137	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cttttcgagggcctttcctaCctggtcttctaggaagcggc	5	13	11	12	2	2	0	0	0	2	0	4	2	3	1	3	4	2	0	3	4	3	6			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:21994137C>T	ENST00000579755.1	-	1	486		c.e1+1		RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000470819.2_Intron|CDKN2A_ENST00000530628.2_Splice_Site|CDKN2A_ENST00000498628.2_Intron|CDKN2A_ENST00000361570.3_Splice_Site|CDKN2A_ENST00000494262.1_Intron			P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A						cell cycle arrest|cell cycle checkpoint|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|induction of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of cell-matrix adhesion|negative regulation of cyclin-dependent protein kinase activity|negative regulation of NF-kappaB transcription factor activity|positive regulation of macrophage apoptosis|positive regulation of smooth muscle cell apoptosis|Ras protein signal transduction|replicative senescence	cytosol|nucleus	cyclin-dependent protein kinase inhibitor activity|NF-kappaB binding|protein binding|protein kinase binding	p.0?(198)|p.?(2)|p.0(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		GCCTTTCCTACCTGGTCTTCT	0.602		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)			T	21994137	C	T	21994137	5	4	772	1	0	0	0	0	0	0	1	0	3191	521	18	2	686	2	CDKN2A	9	21994137	Splice_Site	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	17876057	21994137	119219294	25	57493											
MAMDC2	256691	broad.mit.edu	37	chr9	72723223	72723223	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tgaggaatggagctgcctccGtttggtctaccagataacca	10	10	11	10	1	1	2	0	1	1	1	2	4	2	4	4	3	4	2	4	3	3	3			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr9:72723223G>A	ENST00000377182.4	+	3	862	c.245G>A	c.(244-246)cGt>cAt	p.R82H	MAMDC2-AS1_ENST00000414515.3_RNA|MAMDC2-AS1_ENST00000591368.1_RNA	NM_153267.4	NP_694999.3	Q7Z304	MAMC2_HUMAN	MAM domain containing 2	82	MAM 1.					endoplasmic reticulum|membrane				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|pancreas(1)|upper_aerodigestive_tract(1)	14						AGCTGCCTCCGTTTGGTCTAC	0.493													A	72723223	G	A	72723223	3	1	772	1	0	0	0	0	1	0	0	0	9278	1145	40	1	255	1	MAMDC2	9	72723223	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	50729086	72723223	68490208	26	57494											
PRKCQ	5588	broad.mit.edu	37	chr10	6553002	6553002	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttcctgcacctctcagccagCgagtagagctccacggtggt	7	9	11	14	2	1	1	1	0	1	1	4	2	3	1	4	2	4	3	4	2	1	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:6553002C>T	ENST00000263125.5	-	3	372	c.273G>A	c.(271-273)tcG>tcA	p.S91S	PRKCQ_ENST00000539722.1_5'UTR|PRKCQ_ENST00000397176.2_Silent_p.S91S	NM_001282644.1|NM_006257.3	NP_001269573.1|NP_006248.1	Q04759	KPCT_HUMAN	protein kinase C, theta	91	C2.				axon guidance|cellular component disassembly involved in apoptosis|intracellular signal transduction|membrane protein ectodomain proteolysis|platelet activation|regulation of cell growth|T cell receptor signaling pathway	cytosol	ATP binding|metal ion binding|protein binding|protein kinase C activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(13)|ovary(4)|prostate(1)|skin(4)|stomach(2)	45						TCTCAGCCAGCGAGTAGAGCT	0.468													T	6553002	C	T	6553002	2	4	772	1	0	0	0	0	0	0	0	1	12601	755	27	1		1	PRKCQ	10	6553002	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		6553002	128981745	27	57495											
SAMD8	142891	broad.mit.edu	37	chr10	76928352	76928352	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggaactgtattcttgcttcGctgctttaccatgtttgtga	6	17	10	8	1	1	1	0	1	1	0	2	2	1	2	1	1	4	5	1	1	3	7			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr10:76928352G>A	ENST00000372687.4	+	4	813	c.728G>A	c.(727-729)cGc>cAc	p.R243H	SAMD8_ENST00000542569.1_Missense_Mutation_p.R243H|SAMD8_ENST00000372690.3_Missense_Mutation_p.R306H			Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						sphingomyelin biosynthetic process	integral to membrane				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					TTCTTGCTTCGCTGCTTTACC	0.453													A	76928352	G	A	76928352	3	1	772	1	0	0	0	0	1	0	0	0	13916	1087	38	1	738	1	SAMD8	10	76928352	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08	70375350	76928352	58606395	28	57496											
FNBP4	23360	broad.mit.edu	37	chr11	47744591	47744591	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgggagctggtggtggtggAggaggaggaggaggaggtgg	7	7	26	1	0	0	0	0	0	0	0	0	7	0	7	0	12	1	1	0	12	0	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:47744591A>T	ENST00000263773.5	-	15	2754	c.2742T>A	c.(2740-2742)ccT>ccA	p.P914P		NM_015308.2	NP_056123.2	Q8N3X1	FNBP4_HUMAN	formin binding protein 4	914	Pro-rich.							p.P914P(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	44						gtggtggtggaggaggaggag	0.463													T	47744591	A	T	47744591	2	4	772	1	0	0	0	0	0	0	0	1	6016	291	11	5		5	FNBP4	11	47744591	Silent	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		47744591	87261925	29	57497											
FZD4	8322	broad.mit.edu	37	chr11	86662454	86662454	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taacaggcaatcacacacgtTgcaggaactgtgtacagtac	14	8	9	10	1	1	0	1	0	0	0	1	1	1	1	0	2	5	5	0	2	5	4			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr11:86662454T>C	ENST00000531380.1	-	2	1649	c.1344A>G	c.(1342-1344)gcA>gcG	p.A448A	PRSS23_ENST00000531521.1_3'UTR|PRSS23_ENST00000533902.2_3'UTR	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled family receptor 4	448					canonical Wnt receptor signaling pathway|cellular response to retinoic acid|embryo development|negative regulation of cell-substrate adhesion|neuron differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|progesterone secretion|regulation of vascular endothelial growth factor receptor signaling pathway|substrate adhesion-dependent cell spreading|vasculogenesis|Wnt receptor signaling pathway, calcium modulating pathway	cell projection|cell surface|cytoplasm	cytokine binding|G-protein coupled receptor activity|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|Wnt receptor activity|Wnt-protein binding			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				TCACACACGTTGCAGGAACTG	0.393													C	86662454	T	C	86662454	2	2	772	1	0	0	0	0	0	0	0	1	6184	1799	63	3		3	FZD4	11	86662454	Silent	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08	38917863	86662454	48344062	30	57498											
SLCO1B1	10599	broad.mit.edu	37	chr12	21353502	21353502	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatgttatgtttgtgctttTgacgttgttacaagtaagca	9	18	10	4	1	0	1	0	1	0	0	0	1	0	1	0	0	3	8	0	0	5	8			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr12:21353502T>G	ENST00000256958.2	+	9	1127	c.1031T>G	c.(1030-1032)tTg>tGg	p.L344W		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	344					bile acid metabolic process|sodium-independent organic anion transport	basolateral plasma membrane|integral to plasma membrane|membrane fraction	bile acid transmembrane transporter activity|sodium-independent organic anion transmembrane transporter activity|thyroid hormone transmembrane transporter activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Digoxin(DB00390)|Gemfibrozil(DB01241)|Pravastatin(DB00175)	TTTGTGCTTTTGACGTTGTTA	0.328													G	21353502	T	G	21353502	3	3	772	1	0	0	0	0	1	0	0	0	14817	1821	63	5	1061	5	SLCO1B1	12	21353502	Missense_Mutation	SNP	T	TCGA-TQ-A7RU-01A-21D-A34A-08		21353502	112498393	31	57499											
OLFM4	10562	broad.mit.edu	37	chr13	53624470	53624470	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgtgactcaaactctccctaAtgctgcctataataaccgct	11	12	5	13	1	2	1	1	1	1	0	3	1	2	1	3	0	4	2	3	0	5	4			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr13:53624470A>T	ENST00000219022.2	+	5	1175	c.1097A>T	c.(1096-1098)aAt>aTt	p.N366I		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	366	Olfactomedin-like.				cell adhesion	extracellular space				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		ACTCTCCCTAATGCTGCCTAT	0.403													T	53624470	A	T	53624470	3	4	772	1	0	0	0	0	1	0	0	0	10931	101	4	5	1115	5	OLFM4	13	53624470	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		53624470	61545408	32	57500											
SOS2	6655	broad.mit.edu	37	chr14	50626681	50626681	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtccctccataatgaattcAttacaacactgtccaatatc	13	12	4	12	0	1	1	1	1	0	0	5	1	4	1	3	1	2	0	3	1	6	4			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr14:50626681A>T	ENST00000216373.5	-	10	1594	c.1320T>A	c.(1318-1320)aaT>aaA	p.N440K	SOS2_ENST00000555794.1_5'UTR|SOS2_ENST00000543680.1_Missense_Mutation_p.N407K	NM_006939.2	NP_008870.2	Q07890	SOS2_HUMAN	son of sevenless homolog 2 (Drosophila)	440					apoptosis|axon guidance|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	DNA binding|protein binding|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(16)|ovary(2)|skin(1)	39	all_epithelial(31;0.000822)|Breast(41;0.0065)					TAATGAATTCATTACAACACT	0.363													T	50626681	A	T	50626681	3	4	772	1	0	0	0	0	1	0	0	0	15031	214	8	5	2734	5	SOS2	14	50626681	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		50626681	56722859	33	57501											
SIN3A	25942	broad.mit.edu	37	chr15	75687040	75687040	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctcatcatagatactctcaAtctcattgagtaagctctta	12	14	4	11	0	5	2	4	1	3	1	7	2	5	2	1	0	2	2	1	0	5	5			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr15:75687040A>G	ENST00000394947.3	-	14	2572	c.2258T>C	c.(2257-2259)aTt>aCt	p.I753T	SIN3A_ENST00000394949.4_Missense_Mutation_p.I753T|SIN3A_ENST00000360439.4_Missense_Mutation_p.I753T	NM_001145358.1	NP_001138830.1	Q96ST3	SIN3A_HUMAN	SIN3 transcription regulator family member A	753	Interaction with NCOR1 (By similarity).|Interactions with HDAC1 and ARID4B.				blood coagulation|cellular lipid metabolic process|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleolus|Sin3 complex	protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						GATACTCTCAATCTCATTGAG	0.418													G	75687040	A	G	75687040	3	3	772	1	0	0	0	0	1	0	0	0	14419	101	4	3	1595	3	SIN3A	15	75687040	Missense_Mutation	SNP	A	TCGA-TQ-A7RU-01A-21D-A34A-08		75687040	26844352	34	57502											
SRRM2	23524	broad.mit.edu	37	chr16	2817164	2817164	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaagaatgtcccaggttcCagccccggtgcctctcatga	8	9	10	14	1	1	2	1	1	1	1	4	2	3	2	5	2	3	2	5	2	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr16:2817164C>A	ENST00000301740.8	+	11	7184	c.6635C>A	c.(6634-6636)cCa>cAa	p.P2212Q		NM_016333.3	NP_057417.3	Q9UQ35	SRRM2_HUMAN	serine/arginine repetitive matrix 2	2212	Ala-rich.|Ser-rich.					Cajal body|catalytic step 2 spliceosome|nuclear speck	C2H2 zinc finger domain binding|protein N-terminus binding|RNA binding			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(20)|lung(34)|ovary(6)|pancreas(3)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(7)	105						TCCCAGGTTCCAGCCCCGGTG	0.617													A	2817164	C	A	2817164	3	1	772	1	0	0	0	0	1	0	0	0	15265	594	21	4	6673	4	SRRM2	16	2817164	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		2817164	87537589	35	57503											
KCNAB3	9196	broad.mit.edu	37	chr17	7826851	7826851	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agagctgacaccctcactgcGgagacaccacgctggggcca	10	4	12	15	2	1	3	1	1	0	2	1	4	1	3	3	3	2	2	3	3	0	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:7826851G>A	ENST00000303790.2	-	13	1059	c.1060C>T	c.(1060-1062)Cgc>Tgc	p.R354C		NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	354						cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				CCCTCACTGCGGAGACACCAC	0.577													A	7826851	G	A	7826851	3	1	772	1	0	0	0	0	1	0	0	0	8069	1116	39	1	162	1	KCNAB3	17	7826851	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		7826851	73368359	36	57504											
EFCAB5	374786	broad.mit.edu	37	chr17	28380480	28380480	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gagaacatcaacaccatcacCaaacccgccagaacagcaga	18	2	6	15	1	2	3	2	0	0	3	2	4	2	3	4	0	5	1	4	0	4	0			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr17:28380480C>A	ENST00000394835.3	+	10	1700	c.1508C>A	c.(1507-1509)cCa>cAa	p.P503Q	EFCAB5_ENST00000536908.2_Missense_Mutation_p.P447Q|EFCAB5_ENST00000320856.5_Missense_Mutation_p.P503Q|EFCAB5_ENST00000378738.3_Missense_Mutation_p.P503Q|EFCAB5_ENST00000541045.1_Missense_Mutation_p.P160Q|EFCAB5_ENST00000394832.2_Missense_Mutation_p.P503Q	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	503							calcium ion binding			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ACACCATCACCAAACCCGCCA	0.398													A	28380480	C	A	28380480	3	1	772	1	0	0	0	0	1	0	0	0	4977	594	21	4	1546	4	EFCAB5	17	28380480	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	20553629	28380480	52814730	37	57505											
TPM4	7171	broad.mit.edu	37	chr19	16178536	16178536	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gataagaaagccgctgaggaCaagtgcaagcaggtgaggtg	14	5	16	6	1	0	3	0	2	0	1	0	5	0	4	1	3	3	3	1	3	4	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:16178536C>T	ENST00000538887.1	+	1	189	c.102C>T	c.(100-102)gaC>gaT	p.D34D	TPM4_ENST00000344824.6_Silent_p.D34D			P67936	TPM4_HUMAN	tropomyosin 4	152					cellular component movement|muscle filament sliding|response to oxidative stress	cytosol|muscle thin filament tropomyosin|stress fiber	actin binding|calcium ion binding|structural constituent of muscle		TPM4/ALK(12)	breast(1)|large_intestine(3)	4						CCGCTGAGGACAAGTGCAAGC	0.632			T	ALK	ALCL								T	16178536	C	T	16178536	2	4	772	1	0	0	0	0	0	0	0	1	16509	477	17	2		2	TPM4	19	16178536	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08		16178536	42950447	38	57506											
CIC	23152	broad.mit.edu	37	chr19	42791715	42791715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agcgggagaaggaccacatcCggcggcccatgaatgccttc	10	5	13	13	3	0	2	0	1	0	1	2	4	1	3	4	4	2	0	4	4	2	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791715C>T	ENST00000572681.2	+	6	3396	c.3328C>T	c.(3328-3330)Cgg>Tgg	p.R1110W	CIC_ENST00000575354.2_Missense_Mutation_p.R201W|CIC_ENST00000160740.3_Missense_Mutation_p.R201W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	201	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R201W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GGACCACATCCGGCGGCCCAT	0.622			"Mis, F, S"		oligodendroglioma								T	42791715	C	T	42791715	3	4	772	1	0	0	0	0	1	0	0	0	3454	643	23	1	619	1	CIC	19	42791715	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	26613179	42791715	16337268	39	57507			1	95		2	2	43	C		6.105105e-05
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatcttcagcaagcggcacCgggccctggtccaccagcgt	7	7	12	15	3	2	1	1	1	1	0	3	1	3	1	4	3	3	2	4	3	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000575354.2_Missense_Mutation_p.R215W|CIC_ENST00000160740.3_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	772	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	42	42791757	16337226	40	57508			1	95		2	2	43	C		6.105105e-05
CALM3	808	broad.mit.edu	37	chr19	47111535	47111535	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	gttggggacagtgatgagatCcctgggacagaaccccactg	10	7	14	10	0	0	3	0	2	0	2	1	6	1	5	3	3	1	1	3	3	1	1			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr19:47111535C>T	ENST00000291295.9	+	3	315	c.116C>T	c.(115-117)tCc>tTc	p.S39F	CALM3_ENST00000596362.1_Missense_Mutation_p.S39F|CALM3_ENST00000599839.1_Missense_Mutation_p.S3F|CALM3_ENST00000594523.1_Missense_Mutation_p.S3F|CALM3_ENST00000391918.2_Missense_Mutation_p.S3F|CALM3_ENST00000597743.1_Missense_Mutation_p.S39F|CALM3_ENST00000477244.1_3'UTR|CALM3_ENST00000598871.1_Missense_Mutation_p.S3F	NM_005184.2	NP_005175.2	P62158	CALM_HUMAN	calmodulin 3 (phosphorylase kinase, delta)	39	EF-hand 1.				activation of phospholipase C activity|G-protein coupled receptor protein signaling pathway|glucose metabolic process|glycogen catabolic process|muscle contraction|negative regulation of ryanodine-sensitive calcium-release channel activity|nerve growth factor receptor signaling pathway|nitric oxide metabolic process|platelet activation|platelet degranulation|positive regulation of ryanodine-sensitive calcium-release channel activity|regulation of cytokinesis|regulation of nitric-oxide synthase activity|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to calcium ion|synaptic transmission	centrosome|cytosol|extracellular region|nucleoplasm|plasma membrane|spindle microtubule|spindle pole	calcium ion binding|N-terminal myristoylation domain binding|phospholipase binding|protein domain specific binding|thioesterase binding|titin binding			breast(1)|cervix(2)|endometrium(1)|lung(1)|ovary(1)	6		Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000338)|all cancers(93;0.000683)|Epithelial(262;0.0181)|GBM - Glioblastoma multiforme(486;0.0341)	Aprindine(DB01429)|Bepridil(DB01244)|Dibucaine(DB00527)|Felodipine(DB01023)|Flunarizine(DB04841)|Fluphenazine(DB00623)|Isoflurane(DB00753)|Loperamide(DB00836)|Miconazole(DB01110)|Perphenazine(DB00850)|Phenoxybenzamine(DB00925)|Pimozide(DB01100)|Promethazine(DB01069)	GTGATGAGATCCCTGGGACAG	0.577													T	47111535	C	T	47111535	3	4	772	1	0	0	0	0	1	0	0	0	2612	855	30	2	126	2	CALM3	19	47111535	Missense_Mutation	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	4319778	47111535	12017448	41	57509											
PARD6B	84612	broad.mit.edu	37	chr20	49354410	49354410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atagtttggagctgaatttcGtcggttttcgctggaaagat	9	15	12	5	3	0	2	0	1	0	1	3	4	0	4	0	3	1	4	0	3	3	5			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr20:49354410G>A	ENST00000371610.2	+	2	326	c.83G>A	c.(82-84)cGt>cAt	p.R28H	PARD6B_ENST00000396039.1_Missense_Mutation_p.R28H	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	28	OPR.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						GCTGAATTTCGTCGGTTTTCG	0.323													A	49354410	G	A	49354410	3	1	772	1	0	0	0	0	1	0	0	0	11522	1145	40	1	89	1	PARD6B	20	49354410	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		49354410	13671110	42	57510											
PHF5A	84844	broad.mit.edu	37	chr22	41863526	41863526	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccacagatcacacagcGcccctggtaagatccatagt	11	8	7	15	1	1	2	1	0	0	2	4	2	4	2	5	1	1	1	5	1	2	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chr22:41863526G>A	ENST00000216252.3	-	3	240	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	PHF5A_ENST00000491254.1_5'UTR	NM_032758.3	NP_116147.1	Q7RTV0	PHF5A_HUMAN	PHD finger protein 5A	57					nuclear mRNA splicing, via spliceosome|positive regulation of transcription, DNA-dependent	nuclear speck|U12-type spliceosomal complex|U2 snRNP	DNA binding|sequence-specific DNA binding transcription factor activity	p.R57S(1)		central_nervous_system(1)|large_intestine(2)|lung(1)	4						ATCACACAGCGCCCCTGGTAA	0.507													A	41863526	G	A	41863526	3	1	772	1	0	0	0	0	1	0	0	0	11914	1087	38	1	171	1	PHF5A	22	41863526	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		41863526	9441040	43	57511											
SMC1A	8243	broad.mit.edu	37	chrX	53440219	53440219	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttgcttccttgcgttcagccGcaatatttttcttgcgatgg	5	17	9	10	3	2	0	1	0	1	0	3	1	3	0	2	1	4	3	2	1	2	8			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:53440219G>A	ENST00000322213.4	-	4	705	c.578C>T	c.(577-579)gCg>gTg	p.A193V	SMC1A_ENST00000375340.6_Intron	NM_006306.2	NP_006297.2	Q14683	SMC1A_HUMAN	structural maintenance of chromosomes 1A	193					cell cycle checkpoint|cell division|DNA repair|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|mitotic sister chromatid cohesion|mitotic spindle organization|negative regulation of DNA endoreduplication|nuclear mRNA splicing, via spliceosome|response to radiation|signal transduction in response to DNA damage	cohesin core heterodimer|condensed chromosome kinetochore|condensed nuclear chromosome|cytoplasm|meiotic cohesin complex|nucleoplasm	ATP binding|chromatin binding|microtubule motor activity|protein heterodimerization activity			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(8)|ovary(5)|upper_aerodigestive_tract(2)	49						GCGTTCAGCCGCAATATTTTT	0.512													A	53440219	G	A	53440219	3	1	772	1	0	0	0	0	1	0	0	0	14875	1087	38	1	3211	1	SMC1A	23	53440219	Missense_Mutation	SNP	G	TCGA-TQ-A7RU-01A-21D-A34A-08		53440219	101830341	44	57512											
BGN	633	broad.mit.edu	37	chrX	152770284	152770284	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tacagcgccatgtgtcctttCggctgccactgccacctgcg	5	10	10	16	3	0	0	0	0	0	0	2	0	1	0	5	1	5	1	5	1	1	2			TCGA-TQ-A7RU-01A-21D-A34A-08	TCGA-TQ-A7RU-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a11b5c6b-3b67-49a5-a19d-36f07639b10e	6214b399-4b6a-4834-aa21-779e23a4f457	g.chrX:152770284C>T	ENST00000331595.4	+	2	381	c.195C>T	c.(193-195)ttC>ttT	p.F65F	BGN_ENST00000480756.1_Intron	NM_001711.4	NP_001702.1	P21810	PGS1_HUMAN	biglycan	65	Cys-rich.					proteinaceous extracellular matrix|transport vesicle	extracellular matrix structural constituent			breast(2)|endometrium(3)|large_intestine(1)|lung(9)|ovary(1)	16	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGTGTCCTTTCGGCTGCCACT	0.637													T	152770284	C	T	152770284	2	4	772	1	0	0	0	0	0	0	0	1	1424	883	31	1		1	BGN	23	152770284	Silent	SNP	C	TCGA-TQ-A7RU-01A-21D-A34A-08	99330065	152770284	2500276	45	57513											
CDA	978	broad.mit.edu	37	chr1	20940378	20940378	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccatgtggggcctgcaggCaagtcatgagagaggtaagc	10	7	15	9	0	1	2	1	1	0	1	2	3	2	2	2	4	2	3	2	4	2	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:20940378C>A	ENST00000375071.3	+	3	492	c.310C>A	c.(310-312)Caa>Aaa	p.Q104K	CDA_ENST00000461985.1_Intron	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	104					cell surface receptor linked signaling pathway|cytosine metabolic process|negative regulation of cell growth|negative regulation of nucleotide metabolic process|protein homotetramerization|pyrimidine nucleoside salvage	cytosol|extracellular region	cytidine deaminase activity|nucleoside binding|protein homodimerization activity|zinc ion binding			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	GGCCTGCAGGCAAGTCATGAG	0.498													A	20940378	C	A	20940378	3	1	773	1	0	0	0	0	1	0	0	0	3082	711	25	4	320	4	CDA	1	20940378	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		20940378	228310243	1	57514											
LCK	3932	broad.mit.edu	37	chr1	32740031	32740031	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agtcccactggatggcaaggGcacggtaagaggcgagacag	12	4	16	9	2	0	2	0	0	0	2	1	4	1	3	1	5	0	3	1	5	2	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:32740031G>A	ENST00000333070.4	+	2	201	c.101G>A	c.(100-102)gGc>gAc	p.G34D	LCK_ENST00000336890.5_Missense_Mutation_p.G34D|LCK_ENST00000373564.3_Missense_Mutation_p.G34D	NM_001042771.1	NP_001036236.1	P06239	LCK_HUMAN	lymphocyte-specific protein tyrosine kinase	34	Interactions with CD4 and CD8 (By similarity).				activation of caspase activity|cellular zinc ion homeostasis|induction of apoptosis|interspecies interaction between organisms|leukocyte migration|platelet activation|positive regulation of T cell receptor signaling pathway|regulation of defense response to virus by virus|release of sequestered calcium ion into cytosol|response to drug|T cell costimulation|T cell differentiation|T cell receptor signaling pathway|viral reproduction	cytosol|Golgi apparatus|membrane raft|pericentriolar material|plasma membrane	ATP binding|ATPase binding|CD4 receptor binding|CD8 receptor binding|glycoprotein binding|non-membrane spanning protein tyrosine kinase activity|phosphatidylinositol 3-kinase binding|protein C-terminus binding|protein kinase binding|protein serine/threonine phosphatase activity|SH2 domain binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0837)|Ovarian(437;0.101)|Breast(348;0.212)			Dasatinib(DB01254)	GATGGCAAGGGCACGGTAAGA	0.532			T	TRB@	T-ALL								A	32740031	G	A	32740031	3	1	773	1	0	0	0	0	1	0	0	0	8735	1203	42	2	103	2	LCK	1	32740031	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	11799653	32740031	216510590	2	57515											
DYRK3	8444	broad.mit.edu	37	chr1	206821946	206821946	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggttgtgcttgtggggggtcGctcacgtaggggtaaaaagc	7	10	18	6	2	1	0	1	0	0	0	2	0	1	0	0	6	2	5	0	6	4	4			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr1:206821946G>A	ENST00000367106.1	+	4	1816	c.1343G>A	c.(1342-1344)cGc>cAc	p.R448H	DYRK3_ENST00000367108.3_Missense_Mutation_p.R448H|DYRK3_ENST00000489878.1_Intron|DYRK3_ENST00000367109.2_Missense_Mutation_p.R468H			O43781	DYRK3_HUMAN	dual-specificity tyrosine-(Y)-phosphorylation regulated kinase 3	468	Protein kinase.				erythrocyte differentiation	nucleus	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(9)|lung(8)|skin(1)|stomach(2)	25	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.166)			GTGGGGGGTCGCTCACGTAGG	0.522													A	206821946	G	A	206821946	3	1	773	1	0	0	0	0	1	0	0	0	4896	1087	38	1	1434	1	DYRK3	1	206821946	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	174081915	206821946	42428675	3	57516											
HEATR5B	54497	broad.mit.edu	37	chr2	37229591	37229591	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtactgagatgtggcatatgCcgtactaaaatgaacatcag	14	10	10	7	1	1	2	1	2	0	1	1	3	1	2	1	1	4	3	1	1	6	4			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:37229591C>T	ENST00000233099.5	-	32	5270	c.5175G>A	c.(5173-5175)cgG>cgA	p.R1725R	HEATR5B_ENST00000354531.2_Intron	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1725							binding			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GTGGCATATGCCGTACTAAAA	0.478													T	37229591	C	T	37229591	2	4	773	1	0	0	0	0	0	0	0	1	7087	726	26	2		2	HEATR5B	2	37229591	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		37229591	205969782	4	57517											
EFEMP1	2202	broad.mit.edu	37	chr2	56103869	56103869	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgattgctggcatcacattCatttatatctgaaaaaaagt	14	15	6	6	0	3	2	2	2	1	0	3	2	3	2	0	1	1	2	0	1	5	6			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:56103869C>T	ENST00000394555.2	-	7	1204	c.769G>A	c.(769-771)Gaa>Aaa	p.E257K	EFEMP1_ENST00000424836.2_Intron|EFEMP1_ENST00000355426.3_Missense_Mutation_p.E257K|EFEMP1_ENST00000394554.1_Missense_Mutation_p.E257K	NM_001039348.2|NM_001039349.2	NP_001034437.1|NP_001034438.1	Q12805	FBLN3_HUMAN	EGF containing fibulin-like extracellular matrix protein 1	257	EGF-like 4; calcium-binding (Potential).				negative regulation of chondrocyte differentiation|peptidyl-tyrosine phosphorylation|regulation of transcription, DNA-dependent|visual perception	extracellular space|proteinaceous extracellular matrix	calcium ion binding|epidermal growth factor receptor activity|epidermal growth factor receptor binding|growth factor activity			NS(1)|breast(2)|endometrium(4)|large_intestine(6)|lung(5)|ovary(5)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(58;0.127)|Lung(47;0.132)			GCATCACATTCATTTATATCT	0.308													T	56103869	C	T	56103869	3	4	773	1	0	0	0	0	1	0	0	0	4980	835	29	2	732	2	EFEMP1	2	56103869	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	18874278	56103869	187095504	5	57518											
SLC1A4	6509	broad.mit.edu	37	chr2	65245298	65245298	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	attctccccatcggggccacCgtgaacatggacggagcagc	9	6	12	14	3	1	1	0	1	1	0	3	3	1	3	4	4	3	1	4	4	1	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:65245298C>T	ENST00000234256.3	+	6	1371	c.1128C>T	c.(1126-1128)acC>acT	p.T376T	SLC1A4_ENST00000531327.1_Silent_p.T78T	NM_003038.4	NP_003029.2	P43007	SATT_HUMAN	solute carrier family 1 (glutamate/neutral amino acid transporter), member 4	376					cellular nitrogen compound metabolic process|cognition|synaptic transmission, glutamatergic	intermediate filament|melanosome	chloride channel activity|L-alanine transmembrane transporter activity|L-cystine transmembrane transporter activity|L-hydroxyproline transmembrane transporter activity|L-proline transmembrane transporter activity|L-serine transmembrane transporter activity|L-threonine transmembrane transporter activity|sodium:dicarboxylate symporter activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|urinary_tract(1)	13					L-Alanine(DB00160)	TCGGGGCCACCGTGAACATGG	0.517													T	65245298	C	T	65245298	2	4	773	1	0	0	0	0	0	0	0	1	14528	639	23	1		1	SLC1A4	2	65245298	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	9141429	65245298	177954075	6	57519											
REEP1	65055	broad.mit.edu	37	chr2	86509292	86509292	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaaatacacagtgctacttaCatattccttaatgtcctttg	13	15	4	9	0	0	0	0	0	0	0	2	0	2	0	2	0	4	1	2	0	7	7			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:86509292C>T	ENST00000165698.5	-	2	249		c.e2+1		REEP1_ENST00000540790.1_Splice_Site|REEP1_ENST00000535845.1_Intron|REEP1_ENST00000541910.1_Splice_Site|REEP1_ENST00000473407.1_Splice_Site|REEP1_ENST00000538924.1_Splice_Site	NM_022912.2	NP_075063.1	Q9H902	REEP1_HUMAN	receptor accessory protein 1						cell death|protein insertion into membrane	integral to membrane|mitochondrial membrane	olfactory receptor binding			breast(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	13						GTGCTACTTACATATTCCTTA	0.463													T	86509292	C	T	86509292	5	4	773	1	0	0	0	0	0	0	1	0	13292	492	17	2	584	2	REEP1	2	86509292	Splice_Site	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	21263994	86509292	156690081	7	57520											
TGFBRAP1	9392	broad.mit.edu	37	chr2	105924248	105924248	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gccgtccacagccacagcgaGgggctgctcggcagtcgaca	8	4	14	15	4	0	0	0	0	0	0	3	2	1	0	3	3	3	3	3	3	0	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:105924248G>C	ENST00000393359.2	-	2	937	c.511C>G	c.(511-513)Ctc>Gtc	p.L171V	TGFBRAP1_ENST00000258449.1_Missense_Mutation_p.L171V			Q8WUH2	TGFA1_HUMAN	transforming growth factor, beta receptor associated protein 1	171	CNH.				regulation of transcription, DNA-dependent|transforming growth factor beta receptor signaling pathway	cytoplasm|membrane	SMAD binding|small GTPase regulator activity|transforming growth factor beta receptor binding			central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	31						GCCACAGCGAGGGGCTGCTCG	0.557													C	105924248	G	C	105924248	3	2	773	1	0	0	0	0	1	0	0	0	15924	1000	35	4	2115	4	TGFBRAP1	2	105924248	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	19414956	105924248	137275125	8	57521											
SLC35F5	80255	broad.mit.edu	37	chr2	114513952	114513953	+	Translation_Start_Site	INS	-	-	A																															ccctgcctgcctacctggccINSttcctgccccgcgatggcgt																										TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr2:114513952_114513953insA	ENST00000409342.1	-	0	244_245				SLC35F5_ENST00000245680.2_Frame_Shift_Ins_p.R12fs			Q8WV83	S35F5_HUMAN	solute carrier family 35, member F5						transport	integral to membrane				endometrium(1)|kidney(4)|large_intestine(2)|lung(7)|ovary(2)|prostate(3)|skin(1)	20						CCTACCTGGCCTTCCTGCCCCG	0.733													A	114513953	-	A	114513952	6	5	773	1	0	1	1	0	0	0	0	0	14686	681	24	0		0	SLC35F5	2	114513952	Translation_Start_Site	INS	-	TCGA-TQ-A7RV-01A-21D-A34A-08	8589704	114513952	128685421	9	57522											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	773	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	94599160	209113112	34086261	10	57523											
ZBTB20	26137	broad.mit.edu	37	chr3	114070470	114070478	+	In_Frame_Del	DEL	TGCACTGAC	TGCACTGAC	-																															acatgaagtcaatgagctttTgcactgactgcactgacacc																										TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr3:114070470_114070478delTGCACTGAC	ENST00000462705.1	-	11	1049_1057	c.228_236delGTCAGTGCA	c.(226-237)cagtcagtgcaa>caa	p.76_79QSVQ>Q	ZBTB20_ENST00000474710.1_In_Frame_Del_p.149_152QSVQ>Q|ZBTB20_ENST00000464560.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000393785.2_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000357258.3_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000481632.1_In_Frame_Del_p.76_79QSVQ>Q|ZBTB20_ENST00000471418.1_In_Frame_Del_p.76_79QSVQ>Q	NM_001164343.1	NP_001157815.1	Q9HC78	ZBT20_HUMAN	zinc finger and BTB domain containing 20	149					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.V78G(1)		breast(1)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	48				LUSC - Lung squamous cell carcinoma(41;0.0581)|Lung(219;0.191)		AATGAGCTTTTGCACTGACTGCACTGACA	0.598													-	114070478	TGCACTGAC	-	114070470	7	5	773	1	0	1	0	1	0	0	0	0	17630	1812	63	0	1778	0	ZBTB20	3	114070470	In_Frame_Del	DEL	TGCACTGAC	TCGA-TQ-A7RV-01A-21D-A34A-08		114070470	83951960	11	57524											
FAM114A1	92689	broad.mit.edu	37	chr4	38907402	38907402	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	atgcagccacagatcagggcCctgcagaaagcccacccact	12	4	9	16	0	1	2	1	0	0	2	1	2	1	2	4	1	4	2	4	1	1	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr4:38907402C>T	ENST00000358869.2	+	6	753	c.577C>T	c.(577-579)Cct>Tct	p.P193S	FAM114A1_ENST00000515037.1_5'UTR	NM_138389.2	NP_612398.2	Q8IWE2	NXP20_HUMAN	family with sequence similarity 114, member A1	193						cytoplasm				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	20						AGATCAGGGCCCTGCAGAAAG	0.488													T	38907402	C	T	38907402	3	4	773	1	0	0	0	0	1	0	0	0	5448	623	22	2	591	2	FAM114A1	4	38907402	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		38907402	152246874	12	57525											
LMBRD2	92255	broad.mit.edu	37	chr5	36141229	36141229	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	catgttaaaaattgtgacgtCcaatacactaccctccagaa	15	10	5	11	1	0	2	0	1	0	1	2	2	2	2	3	0	2	1	3	0	7	4			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:36141229C>T	ENST00000296603.4	-	4	810	c.348G>A	c.(346-348)tgG>tgA	p.W116*		NM_001007527.1	NP_001007528.1	Q68DH5	LMBD2_HUMAN	LMBR1 domain containing 2	116						integral to membrane				breast(2)|endometrium(4)|kidney(3)|large_intestine(7)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_lung(31;0.000146)		Epithelial(62;0.0396)|Lung(74;0.111)|all cancers(62;0.115)|COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			ATTGTGACGTCCAATACACTA	0.313													T	36141229	C	T	36141229	4	4	773	1	0	0	0	0	0	1	0	0	8904	856	30	2	1799	2	LMBRD2	5	36141229	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		36141229	144774031	13	57526											
PCDHAC1	56135	broad.mit.edu	37	chr5	140308830	140308830	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgacctgcgaaatcttgccActggggtaggactgaatttg	9	10	12	10	2	1	1	0	1	1	0	1	4	1	2	3	3	2	1	3	3	3	3			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140308830A>T	ENST00000253807.2	+	1	2353	c.2353A>T	c.(2353-2355)Act>Tct	p.T785S	PCDHA12_ENST00000398631.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.T785S|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron	NM_018898.3	NP_061721.2														NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAATCTTGCCACTGGGGTAGG	0.453													T	140308830	A	T	140308830	3	4	773	1	0	0	0	0	1	0	0	0	11608	159	6	5	2355	5	PCDHAC1	5	140308830	Missense_Mutation	SNP	A	TCGA-TQ-A7RV-01A-21D-A34A-08	104167601	140308830	40606430	14	57527											
PCDHGA12	26025	broad.mit.edu	37	chr5	140810561	140810561	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgcagcttttcgccctgaatCcgcgcagcggcagcttggtc	5	9	12	15	5	0	1	0	1	0	0	3	1	1	1	2	2	3	5	2	2	1	3			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr5:140810561C>T	ENST00000252085.3	+	1	377	c.235C>T	c.(235-237)Ccg>Tcg	p.P79S	PCDHGA8_ENST00000398604.2_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA11_ENST00000398587.2_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB4_ENST00000519479.1_Intron	NM_003735.2|NM_032094.1	NP_003726.1|NP_115265.1														breast(2)|cervix(1)|endometrium(7)|kidney(1)|large_intestine(10)|lung(23)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)	58			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCCTGAATCCGCGCAGCGG	0.627													T	140810561	C	T	140810561	3	4	773	1	0	0	0	0	1	0	0	0	11629	855	30	2	237	2	PCDHGA12	5	140810561	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	501731	140810561	40104699	15	57528											
TNPO3	23534	broad.mit.edu	37	chr7	128655167	128655169	+	In_Frame_Del	DEL	AAG	AAG	-																															gatctccagcaaaaaaggcaAagaagtcacatcattgctgt																										TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr7:128655167_128655169delAAG	ENST00000393245.1	-	4	789_791	c.416_418delCTT	c.(415-420)tctttg>ttg	p.S139del	TNPO3_ENST00000482320.1_In_Frame_Del_p.S73del|TNPO3_ENST00000471234.1_In_Frame_Del_p.S139del|TNPO3_ENST00000265388.5_In_Frame_Del_p.S139del|TNPO3_ENST00000471166.1_In_Frame_Del_p.S139del	NM_012470.3	NP_036602.1	Q9Y5L0	TNPO3_HUMAN	transportin 3	139					splicing factor protein import into nucleus	cytoplasm|nucleus	protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(7)|ovary(2)|prostate(2)|skin(3)	22						AAAAAAGGCAAAGAAGTCACATC	0.365													-	128655169	AAG	-	128655167	7	5	773	1	0	1	0	1	0	0	0	0	16437	11	1	0	2429	0	TNPO3	7	128655167	In_Frame_Del	DEL	AAG	TCGA-TQ-A7RV-01A-21D-A34A-08		128655167	30483496	16	57529											
ADAM28	10863	broad.mit.edu	37	chr8	24167482	24167485	+	Splice_Site	DEL	AAGT	AAGT	-																															tgctttatttgaaaaaaaacAagtaagtatctttacctgtg																										TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:24167482_24167485delAAGT	ENST00000265769.4	+	3	336_337	c.226_227delAAGT	c.(226-228)aag>g	p.K76fs	ADAM28_ENST00000437154.2_Splice_Site_p.K76fs|RP11-624C23.1_ENST00000518988.1_RNA|ADAM28_ENST00000397649.3_5'UTR|RP11-624C23.1_ENST00000519689.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|RP11-624C23.1_ENST00000523578.1_RNA|ADAM28_ENST00000540823.1_5'UTR	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	76					proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		GAAAAAAAACAAGTAAGTATCTTT	0.348													-	24167485	AAGT	-	24167482	8	5	773	1	0	1	0	1	0	0	1	0	246	144	5	0	236	0	ADAM28	8	24167482	Splice_Site	DEL	AAGT	TCGA-TQ-A7RV-01A-21D-A34A-08		24167482	122196540	17	57530											
TEX15	56154	broad.mit.edu	37	chr8	30701411	30701411	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggttcaccttctaagtgcCtttttttgttttcaatgaat	7	21	6	7	0	3	1	2	1	1	0	3	1	3	1	2	1	1	2	2	1	3	9			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:30701411C>T	ENST00000256246.2	-	1	5197	c.5123G>A	c.(5122-5124)aGg>aAg	p.R1708K		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1708										NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		TTCTAAGTGCCTTTTTTTGTT	0.373													T	30701411	C	T	30701411	3	4	773	1	0	0	0	0	1	0	0	0	15879	681	24	2	3262	2	TEX15	8	30701411	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	6533929	30701411	115662611	18	57531											
CHRNA6	8973	broad.mit.edu	37	chr8	42612159	42612159	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atattccattggatcccagcGcaatttataatcattccaga	13	13	5	10	1	1	1	1	0	0	1	4	2	4	2	3	1	1	1	3	1	4	7			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:42612159G>A	ENST00000276410.2	-	4	641	c.286C>T	c.(286-288)Cgc>Tgc	p.R96C	CHRNA6_ENST00000530869.1_5'UTR|CHRNA6_ENST00000534622.1_Missense_Mutation_p.R81C	NM_004198.3	NP_004189.1	Q15825	ACHA6_HUMAN	cholinergic receptor, nicotinic, alpha 6 (neuronal)	96						cell junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			endometrium(2)|large_intestine(3)|liver(1)|lung(15)|ovary(1)	22	all_lung(13;3.33e-12)|Lung NSC(13;9.17e-11)|Ovarian(28;0.01)|Prostate(17;0.0119)|Lung SC(25;0.184)	all_lung(54;0.00439)|Lung NSC(58;0.0124)|Esophageal squamous(32;0.131)|Hepatocellular(245;0.133)|Renal(179;0.151)	Lung(22;0.0252)|LUSC - Lung squamous cell carcinoma(45;0.0869)			GGATCCCAGCGCAATTTATAA	0.403													A	42612159	G	A	42612159	3	1	773	1	0	0	0	0	1	0	0	0	3417	1087	38	1	1210	1	CHRNA6	8	42612159	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	11910748	42612159	103751863	19	57532											
SCRIB	23513	broad.mit.edu	37	chr8	144895057	144895057	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgagcagcaccagcccgccGagctcagcaggcagctcctc	8	4	12	17	2	1	1	1	1	0	0	3	2	2	1	4	1	6	6	4	1	0	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr8:144895057G>T	ENST00000356994.2	-	8	723	c.717C>A	c.(715-717)ctC>ctA	p.L239L	SCRIB_ENST00000377533.3_Silent_p.L158L|SCRIB_ENST00000320476.3_Silent_p.L239L	NM_182706.4	NP_874365	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	239	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding			NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			CCAGCCCGCCGAGCTCAGCAG	0.687													T	144895057	G	T	144895057	2	4	773	1	0	0	0	0	0	0	0	1	14030	1045	37	4		4	SCRIB	8	144895057	Silent	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	102282898	144895057	1468965	20	57533											
MCM10	55388	broad.mit.edu	37	chr10	13222503	13222503	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccggccgaaaactgatcagaCtgtctcagatcaaggaaaag	15	6	10	10	2	3	3	3	1	1	2	4	5	3	4	2	2	1	0	2	2	5	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:13222503C>G	ENST00000378694.1	+	6	901	c.826C>G	c.(826-828)Ctg>Gtg	p.L276V	MCM10_ENST00000484800.2_Missense_Mutation_p.L277V|MCM10_ENST00000378714.3_Missense_Mutation_p.L276V			Q7L590	MCM10_HUMAN	minichromosome maintenance complex component 10	277					cell cycle checkpoint|DNA replication|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle	nucleoplasm	metal ion binding|protein binding			central_nervous_system(1)|large_intestine(4)|ovary(2)|skin(1)|stomach(1)	9						ACTGATCAGACTGTCTCAGAT	0.433													G	13222503	C	G	13222503	3	3	773	1	0	0	0	0	1	0	0	0	9460	564	20	4	851	4	MCM10	10	13222503	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		13222503	122312244	21	57534											
CTBP2	1488	broad.mit.edu	37	chr10	126682516	126682516	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctttctcgtccaccaggccGccacgggctgcgttcacaag	6	8	11	16	4	2	0	1	0	1	0	4	0	3	0	4	2	1	3	4	2	1	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr10:126682516G>A	ENST00000309035.6	-	6	2569	c.2439C>T	c.(2437-2439)ggC>ggT	p.G813G	CTBP2_ENST00000531469.1_Silent_p.G273G|CTBP2_ENST00000337195.5_Silent_p.G273G|CTBP2_ENST00000494626.2_Silent_p.G273G|CTBP2_ENST00000334808.6_Silent_p.G341G|CTBP2_ENST00000411419.2_Silent_p.G273G	NM_022802.2	NP_073713.2	P56545	CTBP2_HUMAN	C-terminal binding protein 2	273					negative regulation of cell proliferation|negative regulation of transcription, DNA-dependent|transcription, DNA-dependent|viral genome replication|white fat cell differentiation	cell junction|synapse|transcriptional repressor complex	NAD binding|oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor|protein binding			breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		all_lung(145;0.0132)|Lung NSC(174;0.0193)|all_neural(114;0.116)|Colorectal(57;0.173)		Colorectal(40;0.00572)|COAD - Colon adenocarcinoma(40;0.0127)|GBM - Glioblastoma multiforme(135;0.147)		CCACCAGGCCGCCACGGGCTG	0.582													A	126682516	G	A	126682516	2	1	773	1	0	0	0	0	0	0	0	1	4031	1074	38	1		1	CTBP2	10	126682516	Silent	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	113460013	126682516	8852231	22	57535											
CCDC73	493860	broad.mit.edu	37	chr11	32697529	32697529	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcactcagttgcttatgataGtcttctttagccagaagatg	10	15	8	8	0	4	3	2	1	2	2	4	3	4	3	1	0	2	2	1	0	4	6			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr11:32697529G>T	ENST00000335185.5	-	8	511	c.468C>A	c.(466-468)gaC>gaA	p.D156E	CCDC73_ENST00000534415.1_5'UTR	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	156										NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GCTTATGATAGTCTTCTTTAG	0.323													T	32697529	G	T	32697529	3	4	773	1	0	0	0	0	1	0	0	0	2874	1020	36	4	2815	4	CCDC73	11	32697529	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		32697529	102308987	23	57536											
ABHD4	63874	broad.mit.edu	37	chr14	23072942	23072942	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccgtggcatctgtcctaggaCgttccaatccattggctgtt	6	13	10	12	2	1	0	0	0	1	0	4	1	4	1	4	3	0	4	4	3	2	4			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr14:23072942C>T	ENST00000428304.2	+	4	668	c.598C>T	c.(598-600)Cgt>Tgt	p.R200C	ABHD4_ENST00000544562.1_3'UTR	NM_022060.2	NP_071343.2	Q8TB40	ABHD4_HUMAN	abhydrolase domain containing 4	200					lipid catabolic process		hydrolase activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(3)|prostate(1)	14	all_cancers(95;5.49e-05)			GBM - Glioblastoma multiforme(265;0.0153)		TGTCCTAGGACGTTCCAATCC	0.567													T	23072942	C	T	23072942	3	4	773	1	0	0	0	0	1	0	0	0	84	536	19	1	612	1	ABHD4	14	23072942	Missense_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08		23072942	84276598	24	57537											
PPL	5493	broad.mit.edu	37	chr16	4944525	4944525	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggatcacaaaacacacggccGgagcaatcagcttgttccca	13	6	9	13	2	2	0	2	0	0	0	3	2	3	2	2	3	3	3	2	3	3	2			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:4944525G>A	ENST00000345988.2	-	12	1426	c.1337C>T	c.(1336-1338)cCg>cTg	p.P446L	PPL_ENST00000590782.2_Missense_Mutation_p.P444L	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	446					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ACACACGGCCGGAGCAATCAG	0.632													A	4944525	G	A	4944525	3	1	773	1	0	0	0	0	1	0	0	0	12416	1116	39	1	3977	1	PPL	16	4944525	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		4944525	85410228	25	57538											
SULT1A1	6817	broad.mit.edu	37	chr16	28617448	28617448	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tggtgtagttggtcatagggTtcttcttcatctccttgaac	6	17	10	8	0	5	1	2	1	3	0	6	1	5	1	1	3	1	3	1	3	3	7	rs35728980		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:28617448T>G	ENST00000395609.1	-	9	1462	c.704A>C	c.(703-705)aAc>aCc	p.N235T	SULT1A1_ENST00000569554.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000395607.1_Missense_Mutation_p.N235T|SULT1A1_ENST00000350842.4_Missense_Mutation_p.N157T|SULT1A1_ENST00000314752.7_Missense_Mutation_p.N235T			P50225	ST1A1_HUMAN	sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1	235			N -> T (in dbSNP:rs35728980).		3'-phosphoadenosine 5'-phosphosulfate metabolic process|catecholamine metabolic process|flavonoid metabolic process|steroid metabolic process|sulfation|xenobiotic metabolic process	cytosol	aryl sulfotransferase activity|flavonol 3-sulfotransferase activity			endometrium(2)|kidney(7)|large_intestine(2)|lung(2)|ovary(1)|stomach(2)	16						GGTCATAGGGTTCTTCTTCAT	0.572													G	28617448	T	G	28617448	3	3	773	1	0	0	0	0	1	0	0	0	15468	1725	60	5	191	5	SULT1A1	16	28617448	Missense_Mutation	SNP	T	TCGA-TQ-A7RV-01A-21D-A34A-08	23672923	28617448	61737305	26	57539											
PKD1L2	114780	broad.mit.edu	37	chr16	81142879	81142879	+	RNA	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggttttgtaggaacggagttTccaaccaaatatcaagtttg	12	13	10	6	1	1	0	1	0	0	0	2	2	2	2	2	3	2	4	2	3	6	6			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:81142879T>C	ENST00000534142.1	-	0	1393				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						GAACGGAGTTTCCAACCAAAT	0.522													C	81142879	T	C	81142879	1	2	773	0	1	0	0	0	0	0	0	0	12042	1792	62	3		3	PKD1L2	16	81142879	RNA	SNP	T	TCGA-TQ-A7RV-01A-21D-A34A-08	52525431	81142879	9211874	27	57540											
ZNF276	92822	broad.mit.edu	37	chr16	89799951	89799951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcacggccgtgtaccgaggcGctgacggcatgaaggtgagc	8	5	17	11	5	0	3	0	3	0	0	0	4	0	3	2	4	2	4	2	4	2	1			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr16:89799951G>A	ENST00000289816.5	+	8	1429	c.1117G>A	c.(1117-1119)Gct>Act	p.A373T	ZNF276_ENST00000446326.2_Missense_Mutation_p.A234T|ZNF276_ENST00000443381.2_Missense_Mutation_p.A448T|ZNF276_ENST00000568064.1_Missense_Mutation_p.A356T	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN	zinc finger protein 276	448					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		GTACCGAGGCGCTGACGGCAT	0.622													A	89799951	G	A	89799951	3	1	773	1	0	0	0	0	1	0	0	0	17912	1087	38	1	1372	1	ZNF276	16	89799951	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	8657072	89799951	554802	28	57541											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000359597.4_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	773	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		7577121	73618089	29	57542											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	773	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08	418	7577539	73617671	30	57543											
SMARCA4	6597	broad.mit.edu	37	chr19	11141499	11141499	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cctgctcagcacccgggctgGggggctcggcctgaacctcc	4	6	14	17	2	1	1	1	1	0	0	3	1	2	1	5	5	3	4	5	5	1	0			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:11141499G>A	ENST00000358026.2	+	25	3760	c.3476G>A	c.(3475-3477)gGg>gAg	p.G1159E	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G1159E|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G1159E|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G1159E|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G1159E|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G1159E	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1159	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.L1161fs*3(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ACCCGGGCTGGGGGGCTCGGC	0.617			"F, N, Mis"		NSCLC								A	11141499	G	A	11141499	3	1	773	1	0	0	0	0	1	0	0	0	14864	1232	43	2	3570	2	SMARCA4	19	11141499	Missense_Mutation	SNP	G	TCGA-TQ-A7RV-01A-21D-A34A-08		11141499	47987484	31	57544											
MAST1	22983	broad.mit.edu	37	chr19	12969474	12969474	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcgatatcctcaccttcgcCgagaacccgtttgtggtcgg	6	10	11	14	6	1	1	1	0	0	1	4	3	2	1	4	2	1	1	4	2	2	3			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:12969474C>T	ENST00000251472.4	+	12	1326	c.1287C>T	c.(1285-1287)gcC>gcT	p.A429A	MAST1_ENST00000591495.1_Silent_p.A425A	NM_014975.2	NP_055790.1	Q9Y2H9	MAST1_HUMAN	microtubule associated serine/threonine kinase 1	429	Protein kinase.				cytoskeleton organization|intracellular protein kinase cascade	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|lung(20)|ovary(5)|prostate(5)|skin(3)	56						TCACCTTCGCCGAGAACCCGT	0.572													T	12969474	C	T	12969474	2	4	773	1	0	0	0	0	0	0	0	1	9399	639	23	1		1	MAST1	19	12969474	Silent	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	1827975	12969474	46159509	32	57545											
KLK6	5653	broad.mit.edu	37	chr19	51462421	51462421	+	Nonstop_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tagatgtcacatgtcagggtCacttggcctgaatggttttt	8	15	11	7	0	3	2	3	1	0	1	3	2	3	2	1	3	0	1	1	3	2	4			TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr19:51462421C>A	ENST00000376851.3	-	6	1173	c.734G>T	c.(733-735)tGa>tTa	p.*245L	KLK6_ENST00000310157.2_Nonstop_Mutation_p.*245L|KLK6_ENST00000376853.4_Missense_Mutation_p.D117Y|KLK6_ENST00000456750.2_Nonstop_Mutation_p.*138L|KLK6_ENST00000391808.1_Nonstop_Mutation_p.*138L|CTB-147C22.8_ENST00000601506.1_RNA|KLK6_ENST00000594641.1_Nonstop_Mutation_p.*245L	NM_001012964.1	NP_001012982.1	Q92876	KLK6_HUMAN	kallikrein-related peptidase 6	0					amyloid precursor protein metabolic process|central nervous system development|collagen catabolic process|hormone metabolic process|myelination|positive regulation of G-protein coupled receptor protein signaling pathway|protein autoprocessing|proteolysis|regulation of cell differentiation|tissue regeneration	endoplasmic reticulum|extracellular region|microsome|mitochondrion|nucleolus	protein binding|serine-type endopeptidase activity			endometrium(1)|kidney(2)|large_intestine(2)|lung(4)|skin(4)	13		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00372)|GBM - Glioblastoma multiforme(134;0.00871)		ATGTCAGGGTCACTTGGCCTG	0.547													A	51462421	C	A	51462421	4	1	773	1	0	0	0	0	0	0	0	0	8466	837	29	4	4	4	KLK6	19	51462421	Nonstop_Mutation	SNP	C	TCGA-TQ-A7RV-01A-21D-A34A-08	38492947	51462421	7666562	33	57546											
SMC1B	27127	broad.mit.edu	37	chr22	45804658	45804660	+	In_Frame_Del	DEL	AGA	AGA	-																															tatataatttttacacttgcAgaagaagaaataggttttcc																										TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chr22:45804658_45804660delAGA	ENST00000357450.4	-	2	228_230	c.229_231delTCT	c.(229-231)tctdel	p.S77del	SMC1B_ENST00000404354.3_In_Frame_Del_p.S77del	NM_148674.3	NP_683515.3	Q8NDV3	SMC1B_HUMAN	structural maintenance of chromosomes 1B	77					chromosome organization|meiosis	chromosome, centromeric region|cytoplasm|meiotic cohesin complex|nucleus	ATP binding			breast(2)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	37		Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0182)		TTACACTTGCAGAAGAAGAAATA	0.291													-	45804660	AGA	-	45804658	7	5	773	1	0	1	0	1	0	0	0	0	14876	175	7	0	3572	0	SMC1B	22	45804658	In_Frame_Del	DEL	AGA	TCGA-TQ-A7RV-01A-21D-A34A-08		45804658	5499908	34	57547											
ATRX	546	broad.mit.edu	37	chrX	76938182	76938183	+	Frame_Shift_Del	DEL	TG	TG	-																															attatccattccttttttgcTgtgtttctcatcttcagaag																										TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:76938182_76938183delTG	ENST00000373344.5	-	9	2779_2780	c.2565_2566delCA	c.(2563-2568)cacagcfs	p.HS855fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.HS817fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	855					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)	CCTTTTTTGCTGTGTTTCTCAT	0.356			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938183	TG	-	76938182	7	5	773	1	0	1	0	1	0	0	0	0	1213	1580	55	0	5020	0	ATRX	23	76938182	Frame_Shift_Del	DEL	TG	TCGA-TQ-A7RV-01A-21D-A34A-08		76938182	78332378	35	57548											
ZNF711	7552	broad.mit.edu	37	chrX	84526116	84526117	+	Frame_Shift_Del	DEL	AT	AT	-																															tccttctgaactcaagaaacAtatgagaacccatactggtg																										TCGA-TQ-A7RV-01A-21D-A34A-08	TCGA-TQ-A7RV-10A-01D-A34A-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	33b54500-b50b-4368-8406-71015c43b929	c08e86a2-b582-4880-b58b-ee7ac9193ec1	g.chrX:84526116_84526117delAT	ENST00000360700.4	+	10	2592_2593	c.1706_1707delAT	c.(1705-1707)catfs	p.H569fs	ZNF711_ENST00000542798.1_Frame_Shift_Del_p.H365fs|ZNF711_ENST00000395402.1_Frame_Shift_Del_p.H531fs|ZNF711_ENST00000373165.3_Frame_Shift_Del_p.H523fs|ZNF711_ENST00000276123.3_Frame_Shift_Del_p.H523fs			Q9Y462	ZN711_HUMAN	zinc finger protein 711	523					positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding|sequence-specific DNA binding|zinc ion binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(14)|ovary(3)|skin(4)	28						CTCAAGAAACATATGAGAACCC	0.396													-	84526117	AT	-	84526116	7	5	773	1	0	1	0	1	0	0	0	0	18217	217	8	0	1594	0	ZNF711	23	84526116	Frame_Shift_Del	DEL	AT	TCGA-TQ-A7RV-01A-21D-A34A-08	7587934	84526116	70744444	36	57549											
ZSWIM5	57643	broad.mit.edu	37	chr1	45486434	45486434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtgcttctgtattgcttccaGaattgttcggagtctcaaag	8	15	10	8	1	2	1	1	0	2	1	5	2	3	2	1	1	2	4	1	1	3	6			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:45486434G>C	ENST00000359600.5	-	12	2681	c.2476C>G	c.(2476-2478)Ctg>Gtg	p.L826V		NM_020883.1	NP_065934.1	Q9P217	ZSWM5_HUMAN	zinc finger, SWIM-type containing 5	826							zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|liver(1)|lung(13)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	28	Acute lymphoblastic leukemia(166;0.155)					ATTGCTTCCAGAATTGTTCGG	0.433													C	45486434	G	C	45486434	3	2	774	1	0	0	0	0	1	0	0	0	18341	933	33	4	1093	4	ZSWIM5	1	45486434	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		45486434	203764187	1	57550											
CD1A	909	broad.mit.edu	37	chr1	158226059	158226059	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatgcaggaaaggcacaTctccagcggcaaggtcagtc	11	7	12	11	1	2	1	1	1	1	0	4	2	2	2	1	4	2	3	1	4	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:158226059T>C	ENST00000289429.5	+	3	1124	c.591T>C	c.(589-591)caT>caC	p.H197H		NM_001763.2	NP_001754.2	P06126	CD1A_HUMAN	CD1a molecule	197	Ig-like.				antigen processing and presentation|immune response	endosome membrane|integral to plasma membrane|MHC class I protein complex				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(14)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	32	all_hematologic(112;0.0378)				Antithymocyte globulin(DB00098)	GAAAGGCACATCTCCAGCGGC	0.453													C	158226059	T	C	158226059	2	2	774	1	0	0	0	0	0	0	0	1	3004	1432	50	3		3	CD1A	1	158226059	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	112739625	158226059	91024562	2	57551											
XCL2	6846	broad.mit.edu	37	chr1	168510202	168510202	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	agagactactagccagtcagGgtcacagctgtattggtcga	11	9	12	9	1	2	1	2	0	0	1	3	3	2	1	1	2	3	2	1	2	3	4	rs149372418	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:168510202G>A	ENST00000367819.2	-	3	365	c.333C>T	c.(331-333)acC>acT	p.T111T		NM_003175.3	NP_003166.1	Q9UBD3	XCL2_HUMAN	chemokine (C motif) ligand 2	111					blood circulation|chemotaxis|immune response|signal transduction	extracellular space	chemokine activity	p.T111T(1)		large_intestine(1)|lung(6)|ovary(1)	8	all_hematologic(923;0.215)					AGCCAGTCAGGGTCACAGCTG	0.498													A	168510202	G	A	168510202	2	1	774	1	0	0	0	0	0	0	0	1	17526	1219	43	2		2	XCL2	1	168510202	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	10284143	168510202	80740419	3	57552											
KMO	8564	broad.mit.edu	37	chr1	241753558	241753558	+	Frame_Shift_Del	DEL	A	A	-																															tgtgcagcgttggcattggcAaaaaaaggttggaacagtta																										TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr1:241753558delA	ENST00000366559.4	+	14	1564	c.1253delA	c.(1252-1254)caafs	p.Q418fs	KMO_ENST00000366558.3_Frame_Shift_Del_p.Q405fs|KMO_ENST00000366557.4_Frame_Shift_Del_p.Q384fs	NM_003679.4	NP_003670.2	O15229	KMO_HUMAN	kynurenine 3-monooxygenase (kynurenine 3-hydroxylase)	418					pyridine nucleotide biosynthetic process|response to salt stress	cytosol|integral to membrane|mitochondrial outer membrane	electron carrier activity|flavin adenine dinucleotide binding|kynurenine 3-monooxygenase activity|NAD(P)H oxidase activity			NS(1)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(10)|ovary(2)|prostate(1)|skin(2)	33	Ovarian(103;0.103)|all_lung(81;0.23)		OV - Ovarian serous cystadenocarcinoma(106;0.0176)			TGGCATTGGCAAAAAAAGGTT	0.313													-	241753558	A	-	241753558	7	5	774	1	0	1	0	1	0	0	0	0	8482	130	5	0	1307	0	KMO	1	241753558	Frame_Shift_Del	DEL	A	TCGA-TQ-A7RW-01A-11D-A33T-08	73243356	241753558	7497063	4	57553											
BCL11A	53335	broad.mit.edu	37	chr2	60688207	60688207	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctttttggacaggccccccgAggccgactcgcccggggagc	5	6	14	16	4	0	0	0	0	0	0	1	4	0	2	5	5	1	0	5	5	0	2	rs147115751		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:60688207A>G	ENST00000335712.6	-	4	2067	c.1840T>C	c.(1840-1842)Tcg>Ccg	p.S614P	BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000538214.1_Missense_Mutation_p.S580P|BCL11A_ENST00000537768.1_Missense_Mutation_p.S283P|BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000356842.4_Missense_Mutation_p.S614P|BCL11A_ENST00000358510.4_Missense_Mutation_p.S580P	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	614					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGGCCCCCCGAGGCCGACTCG	0.667			T	IGH@	B-CLL								G	60688207	A	G	60688207	3	3	774	1	0	0	0	0	1	0	0	0	1368	304	11	3	777	3	BCL11A	2	60688207	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		60688207	182511166	5	57554											
RANBP2	5903	broad.mit.edu	37	chr2	109368336	109368336	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctattttttagacctggaaaCgtagcaaaattgagacttct	13	14	7	7	1	1	2	0	1	1	2	1	4	1	3	1	1	2	2	1	1	6	7			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:109368336C>T	ENST00000283195.6	+	12	1767	c.1641C>T	c.(1639-1641)aaC>aaT	p.N547N		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	547					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GACCTGGAAACGTAGCAAAAT	0.358													T	109368336	C	T	109368336	2	4	774	1	0	0	0	0	0	0	0	1	13116	535	19	1		1	RANBP2	2	109368336	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	48680129	109368336	133831037	6	57555											
CWC22	57703	broad.mit.edu	37	chr2	180810352	180810352	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttgtcttctttcttttTgtttcctatcatttgtttgc	2	26	5	8	0	5	0	1	0	4	0	6	0	6	0	1	0	1	3	1	0	1	10			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810352T>G	ENST00000410053.3	-	20	2530	c.2231A>C	c.(2230-2232)cAa>cCa	p.Q744P	CWC22_ENST00000295749.6_Missense_Mutation_p.Q744P	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	744						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTTCTTTTTGTTTCCTATC	0.393													G	180810352	T	G	180810352	3	3	774	1	0	0	0	0	1	0	0	0	4101	1812	63	5	499	5	CWC22	2	180810352	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	71442016	180810352	62389021	7	57556											
CWC22	57703	broad.mit.edu	37	chr2	180810420	180810420	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttacttctggtcttcccatgTcccttctttcttacatcatt	5	20	3	13	0	5	0	1	0	4	0	7	0	7	0	2	1	2	0	2	1	2	7			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:180810420T>C	ENST00000410053.3	-	20	2462	c.2163A>G	c.(2161-2163)ggA>ggG	p.G721G	CWC22_ENST00000295749.6_Silent_p.G721G	NM_020943.2	NP_065994.1	Q9HCG8	CWC22_HUMAN	CWC22 spliceosome-associated protein homolog (S. cerevisiae)	721						catalytic step 2 spliceosome	protein binding|RNA binding			NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(7)|kidney(2)|large_intestine(8)|liver(1)|lung(8)|stomach(1)	30						TCTTCCCATGTCCCTTCTTTC	0.333													C	180810420	T	C	180810420	2	2	774	1	0	0	0	0	0	0	0	1	4101	1654	58	3		3	CWC22	2	180810420	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	68	180810420	62388953	8	57557											
SF3B1	23451	broad.mit.edu	37	chr2	198267533	198267533	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggtctcatggtagagatcatAgtagccagaccagcagccta	12	8	11	10	0	2	2	2	0	1	2	3	3	2	2	3	2	3	3	3	2	4	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198267533A>C	ENST00000335508.6	-	14	1915	c.1824T>G	c.(1822-1824)acT>acG	p.T608T		NM_012433.2	NP_036565.2	O75533	SF3B1_HUMAN	splicing factor 3b, subunit 1, 155kDa						nuclear mRNA splicing, via spliceosome	catalytic step 2 spliceosome|nuclear speck|U12-type spliceosomal complex	protein binding			NS(35)|breast(10)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(524)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|pancreas(4)|prostate(6)|salivary_gland(1)|skin(4)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	633			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TAGAGATCATAGTAGCCAGAC	0.398			Mis		myelodysplastic syndrome								C	198267533	A	C	198267533	2	2	774	1	0	0	0	0	0	0	0	1	14242	407	15	5		5	SF3B1	2	198267533	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	17457113	198267533	44931840	9	57558											
MARS2	92935	broad.mit.edu	37	chr2	198571649	198571650	+	Frame_Shift_Ins	INS	-	-	A																															gtggatgctccctggctgggINStactgtgcttcatgtggcct																										TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:198571649_198571650insA	ENST00000282276.6	+	1	1563_1564	c.1520_1521insA	c.(1519-1524)ggtactfs	p.T508fs	AC011997.1_ENST00000409845.1_Intron	NM_138395.3	NP_612404.1	Q96GW9	SYMM_HUMAN	methionyl-tRNA synthetase 2, mitochondrial	508					methionyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|methionine-tRNA ligase activity			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(2)|lung(8)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	22					L-Methionine(DB00134)	CCCTGGCTGGGTACTGTGCTTC	0.569													A	198571650	-	A	198571649	7	5	774	1	0	1	1	0	0	0	0	0	9392	1261	44	0	1522	0	MARS2	2	198571649	Frame_Shift_Ins	INS	-	TCGA-TQ-A7RW-01A-11D-A33T-08	304116	198571649	44627724	10	57559											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	774	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	10541463	209113112	34086261	11	57560											
RQCD1	9125	broad.mit.edu	37	chr2	219449427	219449427	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctttgagtatctccggctcaCcagccttggagttattggta	7	14	10	10	1	2	1	1	1	1	0	3	2	2	2	3	3	1	4	3	3	3	6			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:219449427C>G	ENST00000273064.6	+	4	788	c.413C>G	c.(412-414)aCc>aGc	p.T138S	RQCD1_ENST00000295701.5_Missense_Mutation_p.T138S|RQCD1_ENST00000542068.1_Missense_Mutation_p.T138S|RQCD1_ENST00000509807.2_Missense_Mutation_p.T138S	NM_005444.2	NP_005435.1	Q92600	RCD1_HUMAN	RCD1 required for cell differentiation1 homolog (S. pombe)	138					nuclear-transcribed mRNA poly(A) tail shortening|regulation of transcription, DNA-dependent|sex differentiation|transcription, DNA-dependent	cytoplasmic mRNA processing body|cytosol|nucleus	protein binding			endometrium(1)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|prostate(3)|skin(1)	15		Renal(207;0.0915)		Epithelial(149;1.13e-06)|all cancers(144;0.000192)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		CTCCGGCTCACCAGCCTTGGA	0.438													G	219449427	C	G	219449427	3	3	774	1	0	0	0	0	1	0	0	0	13761	507	18	4	427	4	RQCD1	2	219449427	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	10336315	219449427	23749946	12	57561											
NGEF	25791	broad.mit.edu	37	chr2	233791769	233791769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cccacctatttgttcaatgaGgtttctccaggagtcggcgg	7	12	11	11	2	2	1	1	1	1	0	4	2	2	2	3	4	0	2	3	4	2	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr2:233791769G>A	ENST00000264051.3	-	4	789	c.511C>T	c.(511-513)Ctc>Ttc	p.L171F	NGEF_ENST00000373552.4_Missense_Mutation_p.L79F|NGEF_ENST00000409079.1_Missense_Mutation_p.L79F	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	171	Regulatory region; modulates activity toward RHOA, RAC1 and CDC42 (By similarity).				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		TGTTCAATGAGGTTTCTCCAG	0.637													A	233791769	G	A	233791769	3	1	774	1	0	0	0	0	1	0	0	0	10470	1000	35	2	1669	2	NGEF	2	233791769	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	14342342	233791769	9407604	13	57562											
PPARG	5468	broad.mit.edu	37	chr3	12475550	12475550	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agacctcagacagattgtcaCggaacacgtgcagctactgc	12	7	10	12	2	2	3	2	0	0	3	2	4	2	4	1	1	5	2	1	1	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:12475550C>T	ENST00000397026.2	+	9	1741	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	PPARG_ENST00000397000.1_3'UTR|PPARG_ENST00000397015.2_Missense_Mutation_p.T447M|PPARG_ENST00000397012.2_Missense_Mutation_p.T447M|PPARG_ENST00000309576.6_Missense_Mutation_p.T447M|PPARG_ENST00000287820.6_Missense_Mutation_p.T475M|PPARG_ENST00000397010.2_Missense_Mutation_p.T447M|PPARG_ENST00000539812.1_3'UTR			P37231	PPARG_HUMAN	peroxisome proliferator-activated receptor gamma	475	Ligand-binding.				activation of caspase activity|cell fate commitment|cell maturation|cellular response to insulin stimulus|epithelial cell differentiation|glucose homeostasis|induction of apoptosis|innate immune response|lipid homeostasis|lipoprotein transport|long-chain fatty acid transport|low-density lipoprotein particle receptor biosynthetic process|monocyte differentiation|negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of macrophage derived foam cell differentiation|negative regulation of receptor biosynthetic process|negative regulation of sequestering of triglyceride|negative regulation of transcription from RNA polymerase II promoter|placenta development|positive regulation of fat cell differentiation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to lipid|response to low-density lipoprotein particle stimulus|white fat cell differentiation	cytosol|nucleoplasm	activating transcription factor binding|arachidonic acid binding|drug binding|enzyme binding|prostaglandin receptor activity|retinoid X receptor binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription regulatory region DNA binding|zinc ion binding		PAX8/PPARG(117)	breast(2)|endometrium(4)|kidney(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)	20					Atorvastatin(DB01076)|Icosapent(DB00159)|Pioglitazone(DB01132)|Rosiglitazone(DB00412)|Troglitazone(DB00197)	CAGATTGTCACGGAACACGTG	0.527			T	PAX8	follicular thyroid		"Insulin resistance ; lipodystrophy, familial partial L;diabetes mellitus, insulin-resistantI, with acanthosis nigricans and hypertension"						T	12475550	C	T	12475550	3	4	774	1	0	0	0	0	1	0	0	0	12376	536	19	1	1450	1	PPARG	3	12475550	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		12475550	185546880	14	57563											
RASSF1	11186	broad.mit.edu	37	chr3	50378177	50378177	+	Frame_Shift_Del	DEL	C	C	-																															tccagccgggtgcggcccttCccagcgcgcccagcgggtgc																										TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr3:50378177delC	ENST00000359365.4	-	1	166	c.60delG	c.(58-60)gggfs	p.G20fs	RASSF1_ENST00000357043.2_Frame_Shift_Del_p.G20fs|RASSF1_ENST00000488024.1_5'UTR	NM_001206957.1|NM_007182.4|NM_170714.1	NP_001193886.1|NP_009113.3|NP_733832.1	Q9NS23	RASF1_HUMAN	Ras association (RalGDS/AF-6) domain family member 1	20	Mediates interaction with E4F1.				cell cycle arrest|negative regulation of cell cycle arrest|positive regulation of protein ubiquitination|protein stabilization|Ras protein signal transduction|response to DNA damage stimulus	microtubule|microtubule cytoskeleton|microtubule organizing center|nucleus|spindle pole	identical protein binding|protein binding|protein N-terminus binding|zinc ion binding			lung(2)|ovary(1)|skin(1)|urinary_tract(1)	5				BRCA - Breast invasive adenocarcinoma(193;0.000278)|OV - Ovarian serous cystadenocarcinoma(275;0.0015)|KIRC - Kidney renal clear cell carcinoma(197;0.00551)|Kidney(197;0.00621)		TGCGGCCCTTCCCAGCGCGCC	0.741													-	50378177	C	-	50378177	7	5	774	1	0	1	0	1	0	0	0	0	13172	842	30	0	1149	0	RASSF1	3	50378177	Frame_Shift_Del	DEL	C	TCGA-TQ-A7RW-01A-11D-A33T-08	37902627	50378177	147644253	15	57564											
CRIPAK	285464	broad.mit.edu	37	chr4	1389462	1389463	+	Frame_Shift_Del	DEL	CG	CG	-																															agtgcctgcctgctcacacaCgtgcccatgtggagtgcccg																										TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:1389462_1389463delCG	ENST00000324803.4	+	1	4123_4124	c.1163_1164delCG	c.(1162-1164)acgfs	p.T388fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	388	Interaction with PAK1.				ER-nucleus signaling pathway|negative regulation of protein kinase activity|regulation of cytoskeleton organization|response to estrogen stimulus	endoplasmic reticulum|nucleus|plasma membrane	protein binding			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			TGCTCACACACGTGCCCATGTG	0.624													-	1389463	CG	-	1389462	7	5	774	1	0	1	0	1	0	0	0	0	3908	536	19	0	1165	0	CRIPAK	4	1389462	Frame_Shift_Del	DEL	CG	TCGA-TQ-A7RW-01A-11D-A33T-08		1389462	189764814	16	57565											
EVC	2121	broad.mit.edu	37	chr4	5798788	5798788	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggggcatgacctgctgttGcgctcagccctccggaggct	5	8	14	14	2	1	1	1	1	0	0	2	2	2	2	3	4	3	5	3	4	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:5798788G>A	ENST00000382674.2	+	14	2110	c.1926G>A	c.(1924-1926)ttG>ttA	p.L642L	EVC_ENST00000264956.6_Silent_p.L642L|EVC_ENST00000515113.1_3'UTR			P57679	EVC_HUMAN	Ellis van Creveld syndrome	642					muscle organ development	integral to membrane				NS(1)|breast(1)|endometrium(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|stomach(1)	28		Myeloproliferative disorder(84;0.117)				ACCTGCTGTTGCGCTCAGCCC	0.647													A	5798788	G	A	5798788	2	1	774	1	0	0	0	0	0	0	0	1	5326	1310	46	2		2	EVC	4	5798788	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	4409326	5798788	185355488	17	57566											
CCRN4L	25819	broad.mit.edu	37	chr4	139966532	139966532	+	Silent	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctcactgaagaacagatTggacccaacaggttaccttc	12	9	8	12	0	1	3	1	1	0	2	2	4	1	4	2	2	4	2	2	2	4	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr4:139966532T>A	ENST00000280614.2	+	3	1393	c.1200T>A	c.(1198-1200)atT>atA	p.I400I	ELF2_ENST00000515489.1_Intron	NM_012118.2	NP_036250.2	Q9UK39	NOCT_HUMAN	CCR4 carbon catabolite repression 4-like (S. cerevisiae)	400					rhythmic process|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding transcription factor activity			kidney(2)|large_intestine(3)|lung(3)|ovary(1)	9	all_hematologic(180;0.162)					AAGAACAGATTGGACCCAACA	0.453													A	139966532	T	A	139966532	2	1	774	1	0	0	0	0	0	0	0	1	2981	1800	63	5		5	CCRN4L	4	139966532	Silent	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	134167744	139966532	51187744	18	57567											
ZNF622	90441	broad.mit.edu	37	chr5	16463248	16463248	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gaagtctgcaaattccaaagCagcatcgccatctgtgaaga	14	8	9	10	1	2	2	0	1	2	1	4	3	3	2	2	0	3	3	2	0	4	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:16463248C>T	ENST00000308683.2	-	3	1144	c.1018G>A	c.(1018-1020)Gct>Act	p.A340T		NM_033414.2	NP_219482.1	Q969S3	ZN622_HUMAN	zinc finger protein 622	340						cytoplasm|nucleus	nucleic acid binding|zinc ion binding			endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|prostate(2)|urinary_tract(1)	25						AATTCCAAAGCAGCATCGCCA	0.408													T	16463248	C	T	16463248	3	4	774	1	0	0	0	0	1	0	0	0	18147	710	25	2	431	2	ZNF622	5	16463248	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		16463248	164452012	19	57568											
SUB1	10923	broad.mit.edu	37	chr5	32601155	32601155	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagccagctgaaggaacagAtttctgacattgatgatgca	13	9	12	7	0	1	5	0	4	1	1	1	7	1	7	1	2	4	2	1	2	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:32601155A>G	ENST00000265073.4	+	5	477	c.349A>G	c.(349-351)Att>Gtt	p.I117V	SUB1_ENST00000515355.1_Missense_Mutation_p.I117V|SUB1_ENST00000502897.1_Missense_Mutation_p.I117V|SUB1_ENST00000512913.1_Missense_Mutation_p.I117V|SUB1_ENST00000504789.1_3'UTR	NM_006713.3	NP_006704.3	P53999	TCP4_HUMAN	SUB1 homolog (S. cerevisiae)	117					regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleolus|transcription factor complex	protein binding|single-stranded DNA binding|transcription coactivator activity			endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						GAAGGAACAGATTTCTGACAT	0.313													G	32601155	A	G	32601155	3	3	774	1	0	0	0	0	1	0	0	0	15458	333	12	3	363	3	SUB1	5	32601155	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	16137907	32601155	148314105	20	57569											
NNT	23530	broad.mit.edu	37	chr5	43659378	43659378	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgcagagggcttcctgctcAacaacaatctgctgaccatc	10	9	9	13	0	2	2	1	1	1	1	4	2	3	2	2	1	5	4	2	1	3	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:43659378A>T	ENST00000264663.5	+	17	2781	c.2560A>T	c.(2560-2562)Aac>Tac	p.N854Y	NNT_ENST00000512996.2_Missense_Mutation_p.N723Y|NNT_ENST00000344920.4_Missense_Mutation_p.N854Y	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	854					tricarboxylic acid cycle	integral to membrane|mitochondrial respiratory chain	NAD binding|NAD(P)+ transhydrogenase (AB-specific) activity|NAD(P)+ transhydrogenase (B-specific) activity|NADP binding			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)				NADH(DB00157)	CTTCCTGCTCAACAACAATCT	0.512													T	43659378	A	T	43659378	3	4	774	1	0	0	0	0	1	0	0	0	10586	130	5	5	2622	5	NNT	5	43659378	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	11058223	43659378	137255882	21	57570											
TMEM174	134288	broad.mit.edu	37	chr5	72469122	72469122	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgtcaatgtgttctccGtcactccttacacacccagc	7	12	5	17	1	3	0	2	0	1	0	6	0	5	0	4	0	2	1	4	0	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:72469122G>A	ENST00000296776.5	+	1	101	c.52G>A	c.(52-54)Gtc>Atc	p.V18I	TMEM174_ENST00000511737.1_3'UTR	NM_153217.2	NP_694949.1	Q8WUU8	TM174_HUMAN	transmembrane protein 174	18						integral to membrane				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	7		Lung NSC(167;0.0378)|Ovarian(174;0.0908)|Prostate(461;0.165)		OV - Ovarian serous cystadenocarcinoma(47;1.46e-54)		TGTGTTCTCCGTCACTCCTTA	0.582													A	72469122	G	A	72469122	3	1	774	1	0	0	0	0	1	0	0	0	16190	1145	40	1	54	1	TMEM174	5	72469122	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	28809744	72469122	108446138	22	57571											
MEGF10	84466	broad.mit.edu	37	chr5	126753365	126753365	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagagtgtgcctgcaagcCgggctggtcaggactctact	7	9	15	10	1	2	1	1	0	1	1	2	3	2	2	2	4	4	2	2	4	2	1	rs141706024		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:126753365C>A	ENST00000274473.6	+	11	1433	c.1166C>A	c.(1165-1167)cCg>cAg	p.P389Q	MEGF10_ENST00000503335.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000418761.2_Missense_Mutation_p.P389Q|MEGF10_ENST00000508365.1_Missense_Mutation_p.P389Q	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	389	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		GCCTGCAAGCCGGGCTGGTCA	0.517													A	126753365	C	A	126753365	3	1	774	1	0	0	0	0	1	0	0	0	9535	652	23	4	1200	4	MEGF10	5	126753365	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	54284243	126753365	54161895	23	57572											
PCDHA9	9752	broad.mit.edu	37	chr5	140230180	140230180	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggatgtcaacgtgtacctGatcatcgccatctgcgcggt	7	11	12	11	4	3	1	2	1	1	0	4	2	3	2	2	2	3	1	2	2	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:140230180G>C	ENST00000378122.3	+	1	2824	c.2100G>C	c.(2098-2100)ctG>ctC	p.L700L	PCDHA2_ENST00000526136.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Silent_p.L700L|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron	NM_014005.3	NP_054724.1														breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACGTGTACCTGATCATCGCCA	0.662													C	140230180	G	C	140230180	2	2	774	1	0	0	0	0	0	0	0	1	11607	1277	45	4		4	PCDHA9	5	140230180	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	13476815	140230180	40685080	24	57573											
CD74	972	broad.mit.edu	37	chr5	149792211	149792211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccggggccccagggcgccgGcccagcatgggcagttgctc	4	5	16	16	3	0	0	0	0	0	0	2	0	1	0	5	5	2	4	5	5	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:149792211G>A	ENST00000353334.6	-	1	281	c.102C>T	c.(100-102)ggC>ggT	p.G34G	CD74_ENST00000377795.3_Silent_p.G34G|CD74_ENST00000009530.7_Silent_p.G34G|CD74_ENST00000524315.1_Silent_p.G34G	NM_001025159.2|NM_004355.3	NP_001020330.1|NP_004346.1	P04233	HG2A_HUMAN	CD74 molecule, major histocompatibility complex, class II invariant chain	34					antigen processing and presentation of endogenous antigen|cell proliferation|immunoglobulin mediated immune response|intracellular protein transport|negative regulation of apoptosis|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of peptide secretion|positive regulation of B cell proliferation|positive regulation of chemokine (C-X-C motif) ligand 2 production|positive regulation of cytokine-mediated signaling pathway|positive regulation of ERK1 and ERK2 cascade|positive regulation of fibroblast proliferation|positive regulation of macrophage cytokine production|positive regulation of neutrophil chemotaxis|positive regulation of peptidyl-tyrosine phosphorylation|prostaglandin biosynthetic process|protein complex assembly|regulation of macrophage activation	endoplasmic reticulum membrane|Golgi apparatus|integral to membrane|lysosome|receptor complex	beta-amyloid binding|cytokine receptor activity|identical protein binding|MHC class II protein binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)	5		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CAGGGCGCCGGCCCAGCATGG	0.617			T	ROS1	NSCLC								A	149792211	G	A	149792211	2	1	774	1	0	0	0	0	0	0	0	1	3065	1190	42	2		2	CD74	5	149792211	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	9562031	149792211	31123049	25	57574											
FOXI1	2299	broad.mit.edu	37	chr5	169533255	169533255	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagaggccgctgctgcccagCgtgtcggggcttggggggag	4	6	20	11	3	0	1	0	0	0	1	1	2	0	2	2	6	3	3	2	6	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr5:169533255C>T	ENST00000449804.2	+	1	339	c.294C>T	c.(292-294)agC>agT	p.S98S	FOXI1_ENST00000306268.6_Silent_p.S98S	NM_012188.4|NM_144769.2	NP_036320.2|NP_658982.1	Q12951	FOXI1_HUMAN	forkhead box I1	98					epidermal cell fate specification|otic placode formation|pattern specification process|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding|transcription regulatory region DNA binding			breast(3)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(7)|lung(16)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	Renal(175;0.000159)|Lung NSC(126;0.0267)|all_lung(126;0.04)	Medulloblastoma(196;0.0109)|all_neural(177;0.0298)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TGCTGCCCAGCGTGTCGGGGC	0.697									Pendred syndrome				T	169533255	C	T	169533255	2	4	774	1	0	0	0	0	0	0	0	1	6060	767	27	1		1	FOXI1	5	169533255	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	19741044	169533255	11382005	26	57575											
DUSP22	56940	broad.mit.edu	37	chr6	348207	348207	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	caccgtgcgtgctgggagatCctgtgccaaccccaacgtgg	7	7	13	14	3	0	1	0	0	0	1	1	2	1	1	5	2	5	1	5	2	2	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348207C>G	ENST00000604971.1	+	3	1172	c.59C>G	c.(58-60)tCc>tGc	p.S20C	DUSP22_ENST00000603453.1_Missense_Mutation_p.S20C|DUSP22_ENST00000605863.1_Missense_Mutation_p.S20C|DUSP22_ENST00000419235.2_Missense_Mutation_p.S123C|DUSP22_ENST00000605315.1_Missense_Mutation_p.S20C|DUSP22_ENST00000344450.5_Missense_Mutation_p.S123C|DUSP22_ENST00000605035.1_Missense_Mutation_p.S20C			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	123					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GCTGGGAGATCCTGTGCCAAC	0.577													G	348207	C	G	348207	3	3	774	1	0	0	0	0	1	0	0	0	4860	855	30	4	390	4	DUSP22	6	348207	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		348207	170766860	27	57576			1	96		2	2	14	C		3.401464e-05
DUSP22	56940	broad.mit.edu	37	chr6	348220	348220	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagatcctgtgccaacccCaacgtgggcttccagagaca	10	6	12	13	1	0	2	0	0	0	2	2	4	2	2	5	2	3	1	5	2	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:348220C>G	ENST00000604971.1	+	3	1185	c.72C>G	c.(70-72)ccC>ccG	p.P24P	DUSP22_ENST00000603453.1_Silent_p.P24P|DUSP22_ENST00000605863.1_Silent_p.P24P|DUSP22_ENST00000419235.2_Silent_p.P127P|DUSP22_ENST00000605315.1_Silent_p.P24P|DUSP22_ENST00000344450.5_Silent_p.P127P|DUSP22_ENST00000605035.1_Silent_p.P24P			Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	127					apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		GTGCCAACCCCAACGTGGGCT	0.577													G	348220	C	G	348220	2	3	774	1	0	0	0	0	0	0	0	1	4860	581	21	4		4	DUSP22	6	348220	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	13	348220	170766847	28	57577			1	96		2	2	14	C		3.401464e-05
HIST1H2BI	8346	broad.mit.edu	37	chr6	26273310	26273310	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagcgcagccgcaaggAgagctattccgtgtacgtgt	9	7	14	11	5	0	1	0	0	0	1	1	2	1	1	2	1	4	5	2	1	4	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:26273310A>C	ENST00000377733.2	+	1	167	c.107A>C	c.(106-108)gAg>gCg	p.E36A		NM_003525.2	NP_003516.1	P62807	H2B1C_HUMAN	histone cluster 1, H2bi	36					defense response to bacterium|nucleosome assembly	nucleosome|nucleus	DNA binding|protein binding			central_nervous_system(1)|cervix(2)|endometrium(3)|large_intestine(1)|lung(8)|urinary_tract(1)	16						AGCCGCAAGGAGAGCTATTCC	0.577													C	26273310	A	C	26273310	3	2	774	1	0	0	0	0	1	0	0	0	7203	304	11	5	109	5	HIST1H2BI	6	26273310	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	25925090	26273310	144841757	29	57578											
ZNF184	7738	broad.mit.edu	37	chr6	27419434	27419434	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agggtttttcttctgtgtgaGttttttgatgttgagcaaga	7	19	12	3	0	2	4	0	3	2	1	2	4	2	4	0	1	1	4	0	1	1	7	rs149207610		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:27419434G>C	ENST00000211936.6	-	6	2188	c.1904C>G	c.(1903-1905)aCt>aGt	p.T635S	ZNF184_ENST00000377419.1_Missense_Mutation_p.T635S	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	635					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						TTCTGTGTGAGTTTTTTGATG	0.423													C	27419434	G	C	27419434	3	2	774	1	0	0	0	0	1	0	0	0	17852	1029	36	4	355	4	ZNF184	6	27419434	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	1146124	27419434	143695633	30	57579											
ME1	4199	broad.mit.edu	37	chr6	84025055	84025055	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaactgcctccatgaattcGtccaaaaaatcatcatattc	15	11	4	11	1	2	1	2	1	0	0	6	2	4	1	3	0	2	0	3	0	6	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:84025055G>A	ENST00000369705.3	-	6	794	c.678C>T	c.(676-678)gaC>gaT	p.D226D	ME1_ENST00000541327.1_Silent_p.D60D|ME1_ENST00000543031.1_Silent_p.D151D	NM_002395.4	NP_002386.1	P48163	MAOX_HUMAN	malic enzyme 1, NADP(+)-dependent, cytosolic	226					carbohydrate metabolic process|cellular lipid metabolic process|malate metabolic process|NADP biosynthetic process|response to carbohydrate stimulus|response to hormone stimulus	cytosol	ADP binding|electron carrier activity|malate dehydrogenase (oxaloacetate-decarboxylating) (NADP+) activity|manganese ion binding|NAD binding|NADP binding	p.D226D(1)		NS(2)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	36		all_cancers(76;1.28e-06)|Acute lymphoblastic leukemia(125;5.03e-07)|all_hematologic(105;0.000238)|all_epithelial(107;0.00218)		BRCA - Breast invasive adenocarcinoma(397;0.0641)	NADH(DB00157)	CCATGAATTCGTCCAAAAAAT	0.303													A	84025055	G	A	84025055	2	1	774	1	0	0	0	0	0	0	0	1	9492	1136	40	1		1	ME1	6	84025055	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	56605621	84025055	87090012	31	57580											
TULP4	56995	broad.mit.edu	37	chr6	158870156	158870156	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aactacccgatcttcctggtGgaggacagcagcgagagcga	11	6	13	11	3	1	1	0	0	1	1	2	6	2	3	2	3	5	1	2	3	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:158870156G>T	ENST00000367097.3	+	4	2029	c.672G>T	c.(670-672)gtG>gtT	p.V224V	TULP4_ENST00000367094.2_Silent_p.V224V	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	224					intracellular signal transduction|response to nutrient	cytoplasm	protein binding|sequence-specific DNA binding transcription factor activity			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		TCTTCCTGGTGGAGGACAGCA	0.567													T	158870156	G	T	158870156	2	4	774	1	0	0	0	0	0	0	0	1	16878	1335	47	4		4	TULP4	6	158870156	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	74845101	158870156	12244911	32	57581											
CCR6	1235	broad.mit.edu	37	chr6	167550390	167550390	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gagctactctttggtttcttTatccctttgatgttcatgat	6	20	7	8	0	3	2	1	2	2	0	4	3	4	2	1	1	2	3	1	1	2	7			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:167550390T>A	ENST00000341935.5	+	3	1224	c.672T>A	c.(670-672)ttT>ttA	p.F224L	RP11-517H2.6_ENST00000609590.1_RNA|CCR6_ENST00000400926.2_Missense_Mutation_p.F224L|CCR6_ENST00000349984.4_Missense_Mutation_p.F224L	NM_031409.3	NP_113597.2	P51684	CCR6_HUMAN	chemokine (C-C motif) receptor 6	224					cellular defense response|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|humoral immune response	integral to plasma membrane	C-C chemokine receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	14		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;8.21e-20)|BRCA - Breast invasive adenocarcinoma(81;4.55e-06)|GBM - Glioblastoma multiforme(31;0.00507)		TTGGTTTCTTTATCCCTTTGA	0.458													A	167550390	T	A	167550390	3	1	774	1	0	0	0	0	1	0	0	0	2975	1751	61	5	678	5	CCR6	6	167550390	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	8680234	167550390	3564677	33	57582											
MLLT4	4301	broad.mit.edu	37	chr6	168311815	168311815	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgggcctgagctgatactaCctgcaagcattgaattcagg	10	10	11	10	0	1	3	1	3	0	0	1	3	1	3	2	2	5	3	2	2	4	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr6:168311815C>T	ENST00000366806.2	+	14	1946	c.1804C>T	c.(1804-1806)Cct>Tct	p.P602S	MLLT4_ENST00000447894.2_Missense_Mutation_p.P602S|MLLT4_ENST00000344191.4_Missense_Mutation_p.P602S|MLLT4_ENST00000392108.3_Missense_Mutation_p.P602S|MLLT4_ENST00000392112.1_Missense_Mutation_p.P586S|MLLT4_ENST00000351017.4_Missense_Mutation_p.P602S|MLLT4_ENST00000400822.3_Missense_Mutation_p.P601S			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	602					adherens junction organization|cell adhesion|cell junction assembly|cell-cell signaling|signal transduction	adherens junction|cell-cell junction|cytosol|nucleus	protein C-terminus binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		GCTGATACTACCTGCAAGCAT	0.368			T	MLL	AL								T	168311815	C	T	168311815	3	4	774	1	0	0	0	0	1	0	0	0	9704	507	18	2	1858	2	MLLT4	6	168311815	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	761425	168311815	2803252	34	57583											
PPP1R3A	5506	broad.mit.edu	37	chr7	113517828	113517828	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accctcttcccaggatagccAggacaatgacaaaacgtaga	15	6	8	12	1	1	2	0	1	1	1	2	4	2	4	3	2	2	1	3	2	5	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr7:113517828A>G	ENST00000284601.3	-	4	3387	c.3319T>C	c.(3319-3321)Tgg>Cgg	p.W1107R		NM_002711.3	NP_002702.2	Q16821	PPR3A_HUMAN	protein phosphatase 1, regulatory subunit 3A	1107					glycogen metabolic process	integral to membrane				NS(2)|breast(8)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|liver(1)|lung(43)|ovary(10)|pancreas(7)|prostate(3)|skin(15)|stomach(1)|upper_aerodigestive_tract(2)	121						CAGGATAGCCAGGACAATGAC	0.348													G	113517828	A	G	113517828	3	3	774	1	0	0	0	0	1	0	0	0	12453	188	7	3	53	3	PPP1R3A	7	113517828	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		113517828	45620835	35	57584											
EYA1	2138	broad.mit.edu	37	chr8	72127635	72127635	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctcacctattttagttgcActgtaaatattttctattgg	10	18	6	7	0	2	0	1	0	1	0	2	0	2	0	1	1	2	4	1	1	6	10			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:72127635A>G	ENST00000340726.3	-	16	2223	c.1584T>C	c.(1582-1584)agT>agC	p.S528S	EYA1_ENST00000303824.7_Silent_p.S522S|EYA1_ENST00000388740.3_Silent_p.S495S|EYA1_ENST00000388741.2_Silent_p.S494S|EYA1_ENST00000388743.2_Silent_p.S527S|EYA1_ENST00000388742.4_Silent_p.S528S|EYA1_ENST00000419131.1_Silent_p.S493S	NM_000503.4	NP_000494.2	Q99502	EYA1_HUMAN	eyes absent homolog 1 (Drosophila)	528					double-strand break repair|histone dephosphorylation|positive regulation of DNA repair|protein sumoylation|regulation of transcription, DNA-dependent|response to ionizing radiation|sensory perception of sound|transcription, DNA-dependent	cytoplasm|nucleus	metal ion binding|protein tyrosine phosphatase activity			NS(2)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(15)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	44	Breast(64;0.046)		Epithelial(68;0.0837)|all cancers(69;0.247)			TTTTAGTTGCACTGTAAATAT	0.338													G	72127635	A	G	72127635	2	3	774	1	0	0	0	0	0	0	0	1	5370	156	6	3		3	EYA1	8	72127635	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		72127635	74236387	36	57585											
RBM12B	389677	broad.mit.edu	37	chr8	94748551	94748551	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattatatgcactcctccatCaggaatagtcaatcccgtga	13	11	6	11	1	2	1	2	1	0	0	5	2	5	2	3	1	1	1	3	1	6	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748551C>G	ENST00000399300.2	-	3	301	c.88G>C	c.(88-90)Gat>Cat	p.D30H	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D30H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	30							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTCCTCCATCAGGAATAGTC	0.463													G	94748551	C	G	94748551	3	3	774	1	0	0	0	0	1	0	0	0	13202	826	29	4	2921	4	RBM12B	8	94748551	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	22620916	94748551	51615471	37	57586			2	97		2	2	37	C		9.419155e-05
RBM12B	389677	broad.mit.edu	37	chr8	94748587	94748587	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	cgtgaagaagtgacgaatatCcacaggccccgcaataaaag	16	5	10	10	3	0	3	0	2	0	1	1	4	1	3	3	1	0	1	3	1	7	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:94748587C>T	ENST00000399300.2	-	3	265	c.52G>A	c.(52-54)Gat>Aat	p.D18N	RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D18N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	18							nucleotide binding|RNA binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TGACGAATATCCACAGGCCCC	0.448													T	94748587	C	T	94748587	3	4	774	1	0	0	0	0	1	0	0	0	13202	855	30	2	2957	2	RBM12B	8	94748587	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	36	94748587	51615435	38	57587			2	97		2	2	37	C		9.419155e-05
CSMD3	114788	broad.mit.edu	37	chr8	113241120	113241120	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aaccttctgacatattcagtCctacaaaataaaaaataaat	20	11	2	8	0	2	1	1	1	1	0	3	1	3	1	2	0	2	0	2	0	10	6			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr8:113241120C>G	ENST00000297405.5	-	70	11073	c.10829G>C	c.(10828-10830)gGa>gCa	p.G3610A	CSMD3_ENST00000343508.3_Splice_Site_p.G3570A|CSMD3_ENST00000352409.3_Splice_Site_p.G3540A|CSMD3_ENST00000455883.2_Splice_Site_p.G3441A	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3610						integral to membrane|plasma membrane				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CATATTCAGTCCTACaaaata	0.279										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)			G	113241120	C	G	113241120	5	3	774	1	0	0	0	0	0	0	1	0	3979	869	30	4	302	4	CSMD3	8	113241120	Splice_Site	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	18492533	113241120	33122902	39	57588											
BNC2	54796	broad.mit.edu	37	chr9	16437000	16437000	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gggagagacacaggctggctCggttttgggctccacattag	8	9	15	9	1	0	1	0	0	0	1	2	3	1	2	1	5	0	4	1	5	1	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:16437000C>T	ENST00000380672.4	-	6	1249	c.1192G>A	c.(1192-1194)Gag>Aag	p.E398K	BNC2_ENST00000380666.2_Missense_Mutation_p.E398K|BNC2_ENST00000380667.2_Missense_Mutation_p.E331K|BNC2_ENST00000545497.1_Missense_Mutation_p.E303K	NM_017637.5	NP_060107.3	Q6ZN30	BNC2_HUMAN	basonuclin 2	398					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	zinc ion binding			NS(2)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(16)|liver(1)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	60				GBM - Glioblastoma multiforme(50;9.01e-08)		CAGGCTGGCTCGGTTTTGGGC	0.468													T	16437000	C	T	16437000	3	4	774	1	0	0	0	0	1	0	0	0	1481	893	31	1	2115	1	BNC2	9	16437000	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		16437000	124776431	40	57589											
IARS	3376	broad.mit.edu	37	chr9	95033878	95033878	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cagcctgaagcatccacaggGcaaacagggagtgagtcttt	12	7	12	10	0	1	2	0	2	1	0	2	3	2	3	2	2	3	2	2	2	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:95033878G>A	ENST00000375643.3	-	11	1316	c.1050C>T	c.(1048-1050)tgC>tgT	p.C350C	IARS_ENST00000443024.2_Silent_p.C350C|IARS_ENST00000447699.2_Silent_p.C240C|IARS_ENST00000375629.3_5'UTR	NM_013417.2	NP_038203.2	P41252	SYIC_HUMAN	isoleucyl-tRNA synthetase	350					isoleucyl-tRNA aminoacylation	cytosol|nucleus|soluble fraction	ATP binding|isoleucine-tRNA ligase activity|protein binding			breast(3)|endometrium(2)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	35					L-Isoleucine(DB00167)	CATCCACAGGGCAAACAGGGA	0.448													A	95033878	G	A	95033878	2	1	774	1	0	0	0	0	0	0	0	1	7531	1195	42	2		2	IARS	9	95033878	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	78596878	95033878	46179553	41	57590											
LCN2	3934	broad.mit.edu	37	chr9	130912582	130912582	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctcagagaagacaaagacccGcaaaagatgtatgccaccat	17	5	8	11	1	1	4	1	0	0	4	1	5	1	4	3	0	1	2	3	0	5	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr9:130912582G>A	ENST00000540948.1	+	2	277	c.204G>A	c.(202-204)ccG>ccA	p.P68P	LCN2_ENST00000373013.2_Silent_p.P68P|LCN2_ENST00000470902.1_Intron|LCN2_ENST00000372998.1_Silent_p.P68P|LCN2_ENST00000277480.2_Silent_p.P68P|LCN2_ENST00000373017.1_Silent_p.P68P			P80188	NGAL_HUMAN	lipocalin 2	68					apoptosis|innate immune response|regulation of apoptosis|siderophore transport		iron ion binding|transporter activity			central_nervous_system(1)|lung(3)|prostate(2)|skin(1)|urinary_tract(1)	8						ACAAAGACCCGCAAAAGATGT	0.512													A	130912582	G	A	130912582	2	1	774	1	0	0	0	0	0	0	0	1	8743	1074	38	1		1	LCN2	9	130912582	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	35878704	130912582	10300849	42	57591											
FAM171A1	221061	broad.mit.edu	37	chr10	15255635	15255635	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctccactcccgggtgcccGcatcctgcaggtgctgctga	4	8	13	16	2	0	1	0	1	0	0	3	1	3	1	4	3	4	5	4	3	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:15255635G>A	ENST00000378116.4	-	8	1958	c.1952C>T	c.(1951-1953)gCg>gTg	p.A651V		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	651						integral to membrane				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						CCGGGTGCCCGCATCCTGCAG	0.622													A	15255635	G	A	15255635	3	1	774	1	0	0	0	0	1	0	0	0	5535	1087	38	1	724	1	FAM171A1	10	15255635	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		15255635	120279112	43	57592											
CCDC6	8030	broad.mit.edu	37	chr10	61564269	61564269	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatccttgtgcagacatctcAttaaaatacctaagaggaga	16	10	7	8	0	1	3	1	0	1	3	3	4	2	3	2	1	2	1	2	1	5	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:61564269A>C	ENST00000263102.6	-	7	1245	c.1014T>G	c.(1012-1014)aaT>aaG	p.N338K		NM_005436.4	NP_005427.2	Q16204	CCDC6_HUMAN	coiled-coil domain containing 6	338						cytoplasm|cytoskeleton	SH3 domain binding|structural constituent of cytoskeleton		CCDC6/RET(4)	breast(3)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(6)|ovary(3)|stomach(1)	18				Kidney(211;0.0597)		CAGACATCTCATTAAAATACC	0.448			T	RET	NSCLC								C	61564269	A	C	61564269	3	2	774	1	0	0	0	0	1	0	0	0	2858	214	8	5	422	5	CCDC6	10	61564269	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	46308634	61564269	73970478	44	57593											
HKDC1	80201	broad.mit.edu	37	chr10	71008233	71008233	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actggtcccaagctgtgatgTccgcttcctcctgtcagaga	7	11	10	13	1	1	2	1	1	0	1	5	3	5	2	4	1	1	2	4	1	1	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:71008233T>A	ENST00000354624.5	+	10	1452	c.1319T>A	c.(1318-1320)gTc>gAc	p.V440D	HKDC1_ENST00000395086.2_Missense_Mutation_p.V440D|HKDC1_ENST00000488706.1_3'UTR	NM_025130.3	NP_079406	Q2TB90	HKDC1_HUMAN	hexokinase domain containing 1	440					glycolysis	mitochondrion|nucleus	ATP binding|hexokinase activity	p.V440fs*51(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						AGCTGTGATGTCCGCTTCCTC	0.597													A	71008233	T	A	71008233	3	1	774	1	0	0	0	0	1	0	0	0	7248	1667	58	5	1357	5	HKDC1	10	71008233	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	9443964	71008233	64526514	45	57594											
KCNMA1	3778	broad.mit.edu	37	chr10	78649254	78649254	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaggtgagcatctctcagcCggtaaattccaaaacaaagc	14	8	9	10	1	2	2	1	2	1	0	4	2	3	2	2	2	4	2	2	2	5	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:78649254C>T	ENST00000286627.5	-	26	4194	c.3242G>A	c.(3241-3243)cGg>cAg	p.R1081Q	KCNMA1_ENST00000404857.1_Missense_Mutation_p.R1122Q|KCNMA1_ENST00000404771.3_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000372440.1_Missense_Mutation_p.R1081Q|RP11-443A13.5_ENST00000429850.2_RNA|KCNMA1_ENST00000286628.8_Missense_Mutation_p.R1139Q|KCNMA1_ENST00000372443.1_Missense_Mutation_p.R1108Q|RP11-443A13.5_ENST00000458661.2_RNA|KCNMA1_ENST00000354353.5_Missense_Mutation_p.R1142Q|RP11-443A13.5_ENST00000595702.1_RNA|KCNMA1_ENST00000406533.3_Missense_Mutation_p.R1143Q|RP11-443A13.5_ENST00000609102.1_RNA	NM_001271519.1|NM_002247.3	NP_001258448.1|NP_002238.2	Q12791	KCMA1_HUMAN	potassium large conductance calcium-activated channel, subfamily M, alpha member 1	1139					cellular potassium ion homeostasis|negative regulation of cell volume|platelet activation|positive regulation of apoptosis|regulation of membrane potential|response to calcium ion|response to carbon monoxide|response to hypoxia|response to osmotic stress|smooth muscle contraction involved in micturition	apical plasma membrane|caveola|integral to membrane|voltage-gated potassium channel complex	actin binding|calcium-activated potassium channel activity|large conductance calcium-activated potassium channel activity|metal ion binding|voltage-gated potassium channel activity			breast(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(17)|lung(23)|ovary(2)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	68	all_cancers(46;0.203)|all_epithelial(25;0.00604)|Prostate(51;0.0198)		OV - Ovarian serous cystadenocarcinoma(4;0.0586)|Epithelial(14;0.081)|all cancers(16;0.183)		Bendroflumethiazide(DB00436)|Benzthiazide(DB00562)|Chlorothiazide(DB00880)|Chlorzoxazone(DB00356)|Cromoglicate(DB01003)|Cyclothiazide(DB00606)|Diazoxide(DB01119)|Enflurane(DB00228)|Hydrochlorothiazide(DB00999)|Hydroflumethiazide(DB00774)|Methyclothiazide(DB00232)|Quinethazone(DB01325)|Trichlormethiazide(DB01021)	ATCTCTCAGCCGGTAAATTCC	0.438													T	78649254	C	T	78649254	3	4	774	1	0	0	0	0	1	0	0	0	8131	652	23	1	331	1	KCNMA1	10	78649254	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	7641021	78649254	56885493	46	57595											
SLK	9748	broad.mit.edu	37	chr10	105780333	105780333	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaatgcgagatcttcagttgCagtgtgaagccaatgtccgc	11	10	11	9	2	2	2	1	1	1	1	3	3	3	2	2	0	3	2	2	0	3	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:105780333C>T	ENST00000369755.3	+	17	3954	c.3409C>T	c.(3409-3411)Cag>Tag	p.Q1137*	SLK_ENST00000335753.4_Nonsense_Mutation_p.Q1106*	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	1137					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		TCTTCAGTTGCAGTGTGAAGC	0.458													T	105780333	C	T	105780333	4	4	774	1	0	0	0	0	0	1	0	0	14842	711	25	2	3475	2	SLK	10	105780333	Nonsense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	27131079	105780333	29754414	47	57596											
BNIP3	664	broad.mit.edu	37	chr10	133787409	133787409	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaggctggaacgctgccccCgttcccattattgctgaagt	7	10	11	13	3	0	1	0	1	0	0	1	3	1	2	3	2	3	4	3	2	3	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr10:133787409C>T	ENST00000540159.1	-	2	201	c.85G>A	c.(85-87)Ggg>Agg	p.G29R	BNIP3_ENST00000368636.4_Missense_Mutation_p.G29R			Q12983	BNIP3_HUMAN	BCL2/adenovirus E1B 19kDa interacting protein 3	29					cellular response to cobalt ion|cellular response to hypoxia|cellular response to mechanical stimulus|chromatin remodeling|defense response to virus|DNA fragmentation involved in apoptotic nuclear change|induction of apoptosis|interspecies interaction between organisms|mitochondrial fragmentation involved in apoptosis|negative regulation of membrane potential|negative regulation of mitochondrial fusion|negative regulation of survival gene product expression|neuron apoptosis|positive regulation of mitochondrial fission|positive regulation of protein complex disassembly|positive regulation of release of cytochrome c from mitochondria|reactive oxygen species metabolic process|regulation of mitochondrial membrane permeability	dendrite|integral to mitochondrial outer membrane|nuclear envelope|nucleoplasm	GTPase binding|protein heterodimerization activity|protein homodimerization activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|skin(1)	7		all_cancers(35;4e-11)|all_epithelial(44;5.07e-08)|Ovarian(717;2.61e-05)|Lung NSC(174;0.00237)|all_lung(145;0.00354)|Breast(234;0.023)|all_neural(114;0.0299)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)		Epithelial(32;1.59e-12)|all cancers(32;3.75e-11)|OV - Ovarian serous cystadenocarcinoma(35;2.57e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		ACGCTGCCCCCGTTCCCATTA	0.507													T	133787409	C	T	133787409	3	4	774	1	0	0	0	0	1	0	0	0	1484	652	23	1	519	1	BNIP3	10	133787409	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	28007076	133787409	1747338	48	57597											
INTS4	92105	broad.mit.edu	37	chr11	77649841	77649841	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	ctcccccgaactgtaaagttCcttggcacgctcatgtgcag	8	10	9	14	2	1	0	1	0	0	0	3	1	3	0	3	1	2	5	3	1	3	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:77649841C>G	ENST00000534064.1	-	10	1055	c.1021G>C	c.(1021-1023)Gaa>Caa	p.E341Q	INTS4_ENST00000529807.1_Missense_Mutation_p.E341Q	NM_033547.3	NP_291025.3	Q96HW7	INT4_HUMAN	integrator complex subunit 4	341					snRNA processing	integrator complex	protein binding		INTS4/GAB2(2)	NS(2)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(5)|upper_aerodigestive_tract(1)	32	all_cancers(14;4.53e-19)|all_epithelial(13;1.73e-21)|Breast(9;2.71e-16)|Ovarian(111;0.152)		Epithelial(5;1.13e-46)|all cancers(3;8.92e-44)|BRCA - Breast invasive adenocarcinoma(5;8.4e-26)|OV - Ovarian serous cystadenocarcinoma(8;1.05e-23)			CTGTAAAGTTCCTTGGCACGC	0.483													G	77649841	C	G	77649841	3	3	774	1	0	0	0	0	1	0	0	0	7838	864	30	4	1926	4	INTS4	11	77649841	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		77649841	57356675	49	57598											
HEPHL1	341208	broad.mit.edu	37	chr11	93797642	93797642	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgattcagttgacaagaaAgatgctgttttccagaggag	12	11	11	7	0	1	5	1	2	0	3	2	6	2	6	2	1	1	3	2	1	2	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:93797642A>G	ENST00000315765.9	+	4	782	c.774A>G	c.(772-774)aaA>aaG	p.K258K		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	258	Plastocyanin-like 2.				copper ion transport	integral to membrane	copper ion binding|oxidoreductase activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				TTGACAAGAAAGATGCTGTTT	0.383													G	93797642	A	G	93797642	2	3	774	1	0	0	0	0	0	0	0	1	7110	69	3	3		3	HEPHL1	11	93797642	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	16147801	93797642	41208874	50	57599											
CUL5	8065	broad.mit.edu	37	chr11	107944162	107944162	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tacttacactatttaatagaTttagtaaactcgtcaaagaa	17	14	4	6	1	1	2	1	0	0	2	2	2	1	2	0	0	3	1	0	0	10	9			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr11:107944162T>C	ENST00000393094.2	+	10	1667	c.1051T>C	c.(1051-1053)Ttt>Ctt	p.F351L	CUL5_ENST00000531843.1_3'UTR	NM_003478.3	NP_003469.2	Q93034	CUL5_HUMAN	cullin 5	351					cell cycle arrest|cell proliferation|G1/S transition of mitotic cell cycle|induction of apoptosis by intracellular signals|interspecies interaction between organisms|negative regulation of cell proliferation|ubiquitin-dependent protein catabolic process|viral reproduction	cullin-RING ubiquitin ligase complex|cytosol	calcium channel activity|receptor activity|ubiquitin protein ligase binding			endometrium(2)|kidney(1)|large_intestine(8)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		all_cancers(61;7.09e-10)|all_epithelial(67;2.97e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|Melanoma(852;4.48e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		BRCA - Breast invasive adenocarcinoma(274;3.58e-05)|Epithelial(105;4.68e-05)|all cancers(92;0.00122)|OV - Ovarian serous cystadenocarcinoma(223;0.217)		ATTTAATAGATTTAGTAAACT	0.269													C	107944162	T	C	107944162	3	2	774	1	0	0	0	0	1	0	0	0	4092	1493	52	3	1089	3	CUL5	11	107944162	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	14146520	107944162	27062354	51	57600											
KCNJ8	3764	broad.mit.edu	37	chr12	21919155	21919155	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atcaaaggggccaccagaaaAatgttattgctctcgattgg	13	10	10	8	1	2	1	1	0	1	1	3	2	2	1	2	3	1	2	2	3	4	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:21919155A>T	ENST00000240662.2	-	3	1122	c.777T>A	c.(775-777)atT>atA	p.I259I	RP11-59N23.1_ENST00000542489.1_RNA	NM_004982.3	NP_004973.1	Q15842	IRK8_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 8	259						voltage-gated potassium channel complex				cervix(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	28					Levosimendan(DB00922)	CCACCAGAAAAATGTTATTGC	0.493													T	21919155	A	T	21919155	2	4	774	1	0	0	0	0	0	0	0	1	8114	10	1	5		5	KCNJ8	12	21919155	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08		21919155	111932740	52	57601											
RDH5	5959	broad.mit.edu	37	chr12	56118162	56118162	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgacccggacctaaccaagGtgagccgatgcctggagcat	10	6	13	12	2	0	2	0	2	0	0	0	5	0	4	5	3	4	1	5	3	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:56118162G>A	ENST00000257895.5	+	5	942	c.790G>A	c.(790-792)Gtg>Atg	p.V264M	RDH5_ENST00000547072.1_Missense_Mutation_p.V167M|RP11-644F5.10_ENST00000550412.1_3'UTR|RDH5_ENST00000548082.1_Missense_Mutation_p.V264M	NM_001199771.1|NM_002905.3	NP_001186700.1|NP_002896.2	Q92781	RDH1_HUMAN	retinol dehydrogenase 5 (11-cis/9-cis)	264					response to stimulus|visual perception	membrane	binding|retinol dehydrogenase activity			breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|skin(1)	12					NADH(DB00157)|Vitamin A(DB00162)	CCTAACCAAGGTGAGCCGATG	0.587											OREG0021908	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	56118162	G	A	56118162	3	1	774	1	0	0	0	0	1	0	0	0	13283	1261	44	2	804	2	RDH5	12	56118162	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	34199007	56118162	77733733	53	57602											
RAB3IP	117177	broad.mit.edu	37	chr12	70194027	70194027	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aatgaattccgattgtggaaGgatgagcccacaatggacag	14	8	12	7	1	0	2	0	2	0	0	1	6	1	5	2	3	1	0	2	3	4	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:70194027G>A	ENST00000550536.1	+	7	1432	c.975G>A	c.(973-975)aaG>aaA	p.K325K	RAB3IP_ENST00000553099.1_Silent_p.K103K|RAB3IP_ENST00000551641.1_Silent_p.K103K|RAB3IP_ENST00000325555.9_Silent_p.K103K|RAB3IP_ENST00000483530.2_Silent_p.K309K|RAB3IP_ENST00000550847.1_Silent_p.K16K|RAB3IP_ENST00000362025.5_Silent_p.K325K|RAB3IP_ENST00000247833.7_Silent_p.K309K	NM_001278402.1|NM_175623.2	NP_001265331.1|NP_783322.1	Q96QF0	RAB3I_HUMAN	RAB3A interacting protein	325					cilium assembly|Golgi to plasma membrane transport|protein localization to organelle|protein transport	actin cortical patch|centrosome|cytosol|lamellipodium|microtubule basal body|nucleus	guanyl-nucleotide exchange factor activity|protein binding			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22	Esophageal squamous(21;0.187)		Lung(24;0.000381)|OV - Ovarian serous cystadenocarcinoma(12;0.00168)|STAD - Stomach adenocarcinoma(21;0.00694)			GATTGTGGAAGGATGAGCCCA	0.343													A	70194027	G	A	70194027	2	1	774	1	0	0	0	0	0	0	0	1	13026	991	35	2		2	RAB3IP	12	70194027	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	14075865	70194027	63657868	54	57603											
DCN	1634	broad.mit.edu	37	chr12	91545525	91545525	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgaggcgtgttggccagaGagccattgtcaacagcagag	11	7	15	8	1	1	3	1	1	0	2	1	5	1	3	2	2	3	2	2	2	1	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:91545525G>C	ENST00000052754.5	-	7	1292	c.791C>G	c.(790-792)tCt>tGt	p.S264C	DCN_ENST00000547568.2_Missense_Mutation_p.S117C|DCN_ENST00000425043.1_Missense_Mutation_p.S117C|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.S155C|DCN_ENST00000552962.1_Missense_Mutation_p.S264C|DCN_ENST00000393155.1_Missense_Mutation_p.S264C|DCN_ENST00000228329.5_Missense_Mutation_p.S155C|DCN_ENST00000441303.2_Intron|DCN_ENST00000456569.2_Intron	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	264					organ morphogenesis	extracellular space				central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						GTTGGCCAGAGAGCCATTGTC	0.478													C	91545525	G	C	91545525	3	2	774	1	0	0	0	0	1	0	0	0	4331	942	33	4	296	4	DCN	12	91545525	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	21351498	91545525	42306370	55	57604											
SSH1	54434	broad.mit.edu	37	chr12	109186453	109186453	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggagggggggccctaagccgGgctgggcggcatcatccaag	7	4	19	11	2	1	0	1	0	0	0	2	1	2	1	3	7	1	2	3	7	2	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:109186453G>C	ENST00000326495.5	-	14	1595	c.1502C>G	c.(1501-1503)cCc>cGc	p.P501R	SSH1_ENST00000551165.1_Missense_Mutation_p.P501R|SSH1_ENST00000360239.3_Missense_Mutation_p.P189R|SSH1_ENST00000326470.5_Missense_Mutation_p.P512R	NM_018984.3	NP_061857.3	Q8WYL5	SSH1_HUMAN	slingshot protein phosphatase 1	501					actin cytoskeleton organization|cell morphogenesis|cellular response to ATP|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of cellular protein metabolic process|regulation of lamellipodium assembly	cleavage furrow|cytoplasm|cytoskeleton|lamellipodium|midbody|plasma membrane	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			breast(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(8)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCCTAAGCCGGGCTGGGCGGC	0.642													C	109186453	G	C	109186453	3	2	774	1	0	0	0	0	1	0	0	0	15280	1232	43	4	1841	4	SSH1	12	109186453	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	17640928	109186453	24665442	56	57605											
GTF2H3	2967	broad.mit.edu	37	chr12	124132661	124132661	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttgttgaagagattaaagatCtaatgaccaaaagtaacaac	19	10	7	5	0	1	4	0	2	1	2	1	5	1	4	1	0	2	2	1	0	8	5			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr12:124132661C>T	ENST00000543341.2	+	4	383	c.352C>T	c.(352-354)Cta>Tta	p.L118L	GTF2H3_ENST00000228955.7_Silent_p.L77L	NM_001271867.1|NM_001516.3	NP_001258796.1|NP_001507.2	Q13889	TF2H3_HUMAN	general transcription factor IIH, polypeptide 3, 34kDa	118					mRNA capping|nucleotide-excision repair, DNA damage removal|positive regulation of viral transcription|protein phosphorylation|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	core TFIIH complex|holo TFIIH complex	damaged DNA binding|metal ion binding|protein N-terminus binding|sequence-specific DNA binding transcription factor activity|translation factor activity, nucleic acid binding			breast(2)|endometrium(1)|large_intestine(4)|lung(2)|urinary_tract(1)	10	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;7.1e-05)|Epithelial(86;0.000388)|all cancers(50;0.00362)		GATTAAAGATCTAATGACCAA	0.343								Nucleotide excision repair (NER)					T	124132661	C	T	124132661	2	4	774	1	0	0	0	0	0	0	0	1	6919	912	32	2		2	GTF2H3	12	124132661	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	14946208	124132661	9719234	57	57606											
RBM26	64062	broad.mit.edu	37	chr13	79940828	79940828	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtactgggggcctgagatTcacaggtgggggtgtaagaa	9	9	18	5	0	1	2	1	1	0	2	1	3	1	2	1	6	1	2	1	6	3	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:79940828T>C	ENST00000438737.2	-	7	1515	c.1075A>G	c.(1075-1077)Aat>Gat	p.N359D	RBM26_ENST00000438724.1_Missense_Mutation_p.N359D|RBM26_ENST00000461008.1_5'UTR|RBM26_ENST00000267229.7_Missense_Mutation_p.N359D			Q5T8P6	RBM26_HUMAN	RNA binding motif protein 26	359	Pro-rich.				mRNA processing		nucleotide binding|protein binding|RNA binding|zinc ion binding			NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33		Acute lymphoblastic leukemia(28;0.0279)		GBM - Glioblastoma multiforme(99;0.0188)		GGCCTGAGATTCACAGGTGGG	0.542													C	79940828	T	C	79940828	3	2	774	1	0	0	0	0	1	0	0	0	13214	1783	62	3	1927	3	RBM26	13	79940828	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		79940828	35229050	58	57607											
MCF2L	23263	broad.mit.edu	37	chr13	113742083	113742083	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aagaagttcgagatctggtaCaacgcgcgcgaggaggtcta	12	7	14	8	5	2	2	0	0	2	2	3	5	2	3	0	3	2	2	0	3	5	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr13:113742083C>T	ENST00000397030.1	+	23	2794	c.2757C>T	c.(2755-2757)taC>taT	p.Y919Y	MCF2L_ENST00000535094.2_Silent_p.Y886Y|MCF2L_ENST00000375601.3_Silent_p.Y890Y|MCF2L_ENST00000375608.3_Silent_p.Y916Y|MCF2L_ENST00000375604.2_Silent_p.Y943Y|MCF2L_ENST00000434480.2_Silent_p.Y892Y|MCF2L_ENST00000442652.2_Silent_p.Y916Y|MCF2L_ENST00000421756.1_Silent_p.Y890Y|MCF2L_ENST00000423482.2_Silent_p.Y884Y|MCF2L_ENST00000375597.4_Silent_p.Y884Y			O15068	MCF2L_HUMAN	MCF.2 cell line derived transforming sequence-like	916	PH.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|plasma membrane	Rho guanyl-nucleotide exchange factor activity			kidney(1)|large_intestine(5)|ovary(1)|stomach(1)	8	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0368)|all_epithelial(44;0.0396)|Lung NSC(25;0.129)|Breast(118;0.188)				AGATCTGGTACAACGCGCGCG	0.572													T	113742083	C	T	113742083	2	4	774	1	0	0	0	0	0	0	0	1	9454	489	17	2		2	MCF2L	13	113742083	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	33801255	113742083	1427795	59	57608											
METTL3	56339	broad.mit.edu	37	chr14	21971545	21971545	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tccctgctacctccccagggCccttcttttctgccacagca	5	11	6	19	0	2	0	0	0	2	0	4	0	4	0	6	1	4	2	6	1	1	4			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:21971545C>T	ENST00000298717.4	-	3	645	c.494G>A	c.(493-495)gGc>gAc	p.G165D	METTL3_ENST00000538267.1_Intron	NM_019852.3	NP_062826.2	Q86U44	MTA70_HUMAN	methyltransferase like 3	165					gene expression	nuclear speck	mRNA (2'-O-methyladenosine-N6-)-methyltransferase activity|RNA binding			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|pancreas(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	20	all_cancers(95;0.000628)		Epithelial(56;6.61e-06)	GBM - Glioblastoma multiforme(265;0.0146)		CTCCCCAGGGCCCTTCTTTTC	0.542													T	21971545	C	T	21971545	3	4	774	1	0	0	0	0	1	0	0	0	9576	739	26	2	1284	2	METTL3	14	21971545	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		21971545	85377995	60	57609											
GNPNAT1	64841	broad.mit.edu	37	chr14	53248533	53248533	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatggatgaatttatgttctAtaatcagagttgccgtagca	13	14	9	5	1	2	2	1	1	1	1	2	3	2	3	1	1	2	4	1	1	6	7			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:53248533A>G	ENST00000216410.3	-	4	501	c.314T>C	c.(313-315)aTa>aCa	p.I105T	GNPNAT1_ENST00000554230.1_Missense_Mutation_p.I34T	NM_198066.3	NP_932332.1	Q96EK6	GNA1_HUMAN	glucosamine-phosphate N-acetyltransferase 1	105	N-acetyltransferase.				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine|UDP-N-acetylglucosamine biosynthetic process	cytosol|endosome membrane|Golgi membrane	glucosamine 6-phosphate N-acetyltransferase activity			liver(1)|lung(1)|prostate(1)|skin(1)	4	Breast(41;0.176)					TTTATGTTCTATAATCAGAGT	0.363													G	53248533	A	G	53248533	3	3	774	1	0	0	0	0	1	0	0	0	6600	449	16	3	252	3	GNPNAT1	14	53248533	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	31276988	53248533	54101007	61	57610											
DACT1	51339	broad.mit.edu	37	chr14	59113311	59113311	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagggcggggagcagggCgcatggccacggacgggagg	8	1	21	11	4	0	0	0	0	0	0	0	3	0	3	2	8	1	2	2	8	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:59113311C>T	ENST00000395153.3	+	4	2006	c.1859C>T	c.(1858-1860)gCg>gTg	p.A620V	DACT1_ENST00000556859.1_Missense_Mutation_p.A376V|DACT1_ENST00000335867.4_Missense_Mutation_p.A657V|DACT1_ENST00000541264.2_Missense_Mutation_p.A376V	NM_001079520.1|NM_016651.5	NP_001072988.1|NP_057735.2	Q9NYF0	DACT1_HUMAN	dishevelled-binding antagonist of beta-catenin 1	657					multicellular organismal development|Wnt receptor signaling pathway	cytoplasm|nucleus				endometrium(7)|kidney(3)|large_intestine(11)|lung(27)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	53						GGGAGCAGGGCGCATGGCCAC	0.692													T	59113311	C	T	59113311	3	4	774	1	0	0	0	0	1	0	0	0	4256	768	27	1	1984	1	DACT1	14	59113311	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	5864778	59113311	48236229	62	57611											
NEK9	91754	broad.mit.edu	37	chr14	75553847	75553847	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgcaatctctcaacctcCacctgcagagagctgcacgc	9	7	7	18	1	2	1	1	0	1	1	4	2	3	1	4	0	5	4	4	0	2	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr14:75553847C>T	ENST00000238616.5	-	21	2849	c.2691G>A	c.(2689-2691)gtG>gtA	p.V897V		NM_033116.4	NP_149107.4	Q8TD19	NEK9_HUMAN	NIMA-related kinase 9	897					cell division|mitosis	mitochondrion|nucleus	ATP binding|metal ion binding|protein kinase binding|protein serine/threonine kinase activity			endometrium(4)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00718)		TCTCAACCTCCACCTGCAGAG	0.512													T	75553847	C	T	75553847	2	4	774	1	0	0	0	0	0	0	0	1	10407	581	21	2		2	NEK9	14	75553847	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	16440536	75553847	31795693	63	57612											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	774	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		7577121	73618089	64	57613											
C17orf78	284099	broad.mit.edu	37	chr17	35733066	35733066	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cttggtcttcagcctaatcaTtgcatcctatgatgccaaca	10	13	6	12	0	3	1	2	1	1	0	4	1	4	1	3	1	4	1	3	1	3	5			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:35733066T>C	ENST00000300618.4	+	1	82	c.32T>C	c.(31-33)aTt>aCt	p.I11T	ACACA_ENST00000416895.1_Intron|C17orf78_ENST00000586700.1_Missense_Mutation_p.I11T|ACACA_ENST00000353139.5_Intron	NM_173625.3	NP_775896.3	Q8N4C9	CQ078_HUMAN	chromosome 17 open reading frame 78	11						integral to membrane				NS(1)|endometrium(1)|large_intestine(1)|lung(2)|stomach(1)	6		Breast(25;0.00295)|Ovarian(249;0.15)				AGCCTAATCATTGCATCCTAT	0.463													C	35733066	T	C	35733066	3	2	774	1	0	0	0	0	1	0	0	0	1900	1493	52	3	34	3	C17orf78	17	35733066	Missense_Mutation	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08	28155945	35733066	45462144	65	57614											
STXBP4	252983	broad.mit.edu	37	chr17	53218683	53218683	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cactgtaggtttaccttatgGgtgggaggaagcttacacag	10	11	13	7	0	0	0	0	0	0	0	0	2	0	2	1	4	3	3	1	4	5	5			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:53218683G>A	ENST00000376352.2	+	17	1709	c.1502G>A	c.(1501-1503)gGg>gAg	p.G501E	STXBP4_ENST00000434978.2_Missense_Mutation_p.G479E	NM_178509.5	NP_848604.3	Q6ZWJ1	STXB4_HUMAN	syntaxin binding protein 4	501	WW.					cytoplasm	calcium ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						TTACCTTATGGGTGGGAGGAA	0.363													A	53218683	G	A	53218683	3	1	774	1	0	0	0	0	1	0	0	0	15451	1232	43	2	1560	2	STXBP4	17	53218683	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	17485617	53218683	27976527	66	57615											
TUBD1	51174	broad.mit.edu	37	chr17	57937725	57937725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acaacctgctctaatgacgtGaaactgtctaaaaagtcctc	14	10	6	11	1	2	2	0	2	2	0	4	2	3	2	2	0	3	1	2	0	6	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:57937725G>T	ENST00000325752.3	-	9	1597	c.1320C>A	c.(1318-1320)ttC>ttA	p.F440L	TUBD1_ENST00000340993.6_Missense_Mutation_p.F385L|TUBD1_ENST00000394239.3_Missense_Mutation_p.F383L|TUBD1_ENST00000346141.6_Missense_Mutation_p.F186L|TUBD1_ENST00000539018.1_Missense_Mutation_p.F224L|TUBD1_ENST00000592426.1_Missense_Mutation_p.F440L|TUBD1_ENST00000376094.4_Missense_Mutation_p.F338L	NM_016261.3	NP_057345.2	Q9UJT1	TBD_HUMAN	tubulin, delta 1	440					cell differentiation|microtubule-based movement|multicellular organismal development|protein polymerization|spermatogenesis	centriole|microtubule|nucleus	GTP binding|GTPase activity|structural molecule activity	p.F440F(1)		NS(2)|breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(2)|skin(1)|stomach(2)	21	all_cancers(5;3.18e-13)|Breast(5;2.91e-25)|all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;9.34e-13)|all cancers(12;1.91e-11)			CTAATGACGTGAAACTGTCTA	0.318													T	57937725	G	T	57937725	3	4	774	1	0	0	0	0	1	0	0	0	16864	1281	45	4	45	4	TUBD1	17	57937725	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	4719042	57937725	23257485	67	57616											
ABCA6	23460	broad.mit.edu	37	chr17	67101613	67101613	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcttttcacctgtgttattGatgatcaacaggctggtacg	8	16	9	8	1	3	2	2	2	1	0	3	2	3	2	1	2	2	3	1	2	3	6			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr17:67101613G>C	ENST00000284425.2	-	20	2904	c.2730C>G	c.(2728-2730)atC>atG	p.I910M		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	910					transport	integral to membrane	ATP binding|ATPase activity			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					CTGTGTTATTGATGATCAACA	0.363													C	67101613	G	C	67101613	3	2	774	1	0	0	0	0	1	0	0	0	36	1280	45	4	2203	4	ABCA6	17	67101613	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	9163888	67101613	14093597	68	57617											
ASXL3	80816	broad.mit.edu	37	chr18	31326457	31326457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ttggaactgaaatgctcttgCcggctgaaagccatgattgt	10	12	11	8	1	1	3	0	3	1	0	1	4	1	4	2	2	4	2	2	2	3	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:31326457C>T	ENST00000269197.5	+	12	6645	c.6645C>T	c.(6643-6645)tgC>tgT	p.C2215C		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like 3 (Drosophila)	2215					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	metal ion binding			breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATGCTCTTGCCGGCTGAAAG	0.512													T	31326457	C	T	31326457	2	4	774	1	0	0	0	0	0	0	0	1	1073	747	26	2		2	ASXL3	18	31326457	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		31326457	46750791	69	57618											
CTDP1	9150	broad.mit.edu	37	chr18	77464812	77464812	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggtgagcccatgctgcacAcgcgcctgcgtccacactgc	6	6	13	16	3	0	1	0	1	0	0	1	1	1	1	3	2	5	2	3	2	0	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr18:77464812A>G	ENST00000299543.7	+	5	814	c.667A>G	c.(667-669)Acg>Gcg	p.T223A	CTDP1_ENST00000075430.7_Missense_Mutation_p.T223A	NM_001202504.1|NM_004715.4	NP_001189433.1|NP_004706.3	Q9Y5B0	CTDP1_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1	223	FCP1 homology.				positive regulation of viral transcription|protein dephosphorylation|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm	CTD phosphatase activity|DNA-directed RNA polymerase activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|prostate(2)|urinary_tract(1)	35		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;5.2e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0277)		CATGCTGCACACGCGCCTGCG	0.602													G	77464812	A	G	77464812	3	3	774	1	0	0	0	0	1	0	0	0	4035	159	6	3	685	3	CTDP1	18	77464812	Missense_Mutation	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	46138355	77464812	612436	70	57619											
ZNF846	162993	broad.mit.edu	37	chr19	9874046	9874046	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	aacaaagtccactcctcctgGgtaaagtccacagccacatc	13	7	6	15	0	0	0	0	0	0	0	5	0	4	0	5	1	2	1	5	1	4	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:9874046G>A	ENST00000397902.2	-	3	467	c.54C>T	c.(52-54)acC>acT	p.T18T	ZNF846_ENST00000588267.1_5'UTR|ZNF846_ENST00000586293.1_Silent_p.T18T|ZNF846_ENST00000592859.1_Intron	NM_001077624.1	NP_001071092.1	Q147U1	ZN846_HUMAN	zinc finger protein 846	18	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	22						ACTCCTCCTGGGTAAAGTCCA	0.423													A	9874046	G	A	9874046	2	1	774	1	0	0	0	0	0	0	0	1	18291	1219	43	2		2	ZNF846	19	9874046	Silent	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		9874046	49254937	71	57620											
DDA1	79016	broad.mit.edu	37	chr19	17424890	17424890	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caattttagtcgatttcacgCggactccgtgtgcaaagcct	9	12	9	11	4	1	0	1	0	0	0	3	2	2	1	2	1	2	1	2	1	3	3			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:17424890C>T	ENST00000359866.4	+	2	186	c.62C>T	c.(61-63)gCg>gTg	p.A21V		NM_024050.5	NP_076955.1	Q9BW61	DDA1_HUMAN	DET1 and DDB1 associated 1	21										kidney(1)|large_intestine(1)|lung(1)|ovary(1)	4						CGATTTCACGCGGACTCCGTG	0.527													T	17424890	C	T	17424890	3	4	774	1	0	0	0	0	1	0	0	0	4354	768	27	1	68	1	DDA1	19	17424890	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	7550844	17424890	41704093	72	57621											
TSHZ3	57616	broad.mit.edu	37	chr19	31770237	31770237	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ccacagctgctgctgctgctActgctgctgctgctgctgcc	3	11	11	16	0	0	0	0	0	0	0	0	0	0	0	2	0	12	10	2	0	1	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:31770237A>G	ENST00000240587.4	-	2	789	c.462T>C	c.(460-462)agT>agC	p.S154S		NM_020856.2	NP_065907.2	Q63HK5	TSH3_HUMAN	teashirt zinc finger homeobox 3	154	Ser-rich.				negative regulation of transcription, DNA-dependent|regulation of respiratory gaseous exchange by neurological system process	growth cone|nucleus	chromatin binding|protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(4)|endometrium(15)|kidney(9)|large_intestine(20)|lung(60)|ovary(4)|pancreas(2)|prostate(4)|skin(5)	123	Esophageal squamous(110;0.226)					tgctgctgctactgctgctgc	0.607													G	31770237	A	G	31770237	2	3	774	1	0	0	0	0	0	0	0	1	16726	388	14	3		3	TSHZ3	19	31770237	Silent	SNP	A	TCGA-TQ-A7RW-01A-11D-A33T-08	14345347	31770237	27358746	73	57622											
ZFP82	284406	broad.mit.edu	37	chr19	36884065	36884065	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gcattccttacattcgtaagGtttttcaccagtatgaattc	10	16	6	9	1	1	1	1	1	0	0	4	1	2	1	2	1	1	4	2	1	4	8			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr19:36884065G>T	ENST00000392161.3	-	5	1419	c.1177C>A	c.(1177-1179)Cct>Act	p.P393T	ZFP82_ENST00000392171.1_Missense_Mutation_p.P393T	NM_133466.2	NP_597723.1	Q8N141	ZFP82_HUMAN	ZFP82 zinc finger protein	393					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						CATTCGTAAGGTTTTTCACCA	0.388													T	36884065	G	T	36884065	3	4	774	1	0	0	0	0	1	0	0	0	17754	1261	44	4	425	4	ZFP82	19	36884065	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	5113828	36884065	22244918	74	57623											
ZFP64	55734	broad.mit.edu	37	chr20	50701717	50701717	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aactcgcacttgaaaggcttCtcccccgagtgcacgatcat	10	9	8	14	3	2	1	1	1	1	0	4	3	2	1	2	1	2	3	2	1	2	2			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr20:50701717C>T	ENST00000361387.2	-	9	1377	c.1317G>A	c.(1315-1317)gaG>gaA	p.E439E	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371523.4_Silent_p.E220E	NM_199427.2	NP_955459.2	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	396					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						TGAAAGGCTTCTCCCCCGAGT	0.532													T	50701717	C	T	50701717	2	4	774	1	0	0	0	0	0	0	0	1	17753	912	32	2		2	ZFP64	20	50701717	Silent	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08		50701717	12323803	75	57624											
DSCAM	1826	broad.mit.edu	37	chr21	42064859	42064859	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggttttctggtcctccacacGgactgtatagggctcccgta	6	12	11	12	2	1	0	0	0	1	0	4	1	4	1	3	4	0	4	3	4	3	5			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr21:42064859G>A	ENST00000400454.1	-	3	862	c.385C>T	c.(385-387)Cgt>Tgt	p.R129C		NM_001271534.1|NM_001389.3	NP_001258463.1|NP_001380.2	O60469	DSCAM_HUMAN	Down syndrome cell adhesion molecule	129	Ig-like C2-type 1.|Ig-like C2-type 2.				cell adhesion|dendrite self-avoidance|negative regulation of cell adhesion|positive regulation of axon extension involved in axon guidance|positive regulation of phosphorylation	axon|extracellular region|growth cone|integral to plasma membrane|membrane fraction	protein binding			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(22)|lung(47)|ovary(7)|pancreas(2)|prostate(3)|skin(14)|upper_aerodigestive_tract(6)|urinary_tract(4)	142		all_cancers(19;0.186)|Prostate(19;1.15e-05)|all_epithelial(19;0.0103)				TCCTCCACACGGACTGTATAG	0.498													A	42064859	G	A	42064859	3	1	774	1	0	0	0	0	1	0	0	0	4807	1116	39	1	5777	1	DSCAM	21	42064859	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		42064859	6065036	76	57625											
SEC14L3	266629	broad.mit.edu	37	chr22	30866506	30866506	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gccctcacctcggagccagcGtagaaggaaataatcatcag	13	6	10	12	2	3	1	3	0	0	1	4	3	3	3	3	2	2	1	3	2	4	2	rs116155456	byFrequency	TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chr22:30866506G>A	ENST00000403066.1	-	0	224				SEC14L3_ENST00000402286.1_De_novo_Start_InFrame|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R40C|SEC14L3_ENST00000539629.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000415957.2_De_novo_Start_OutOfFrame|SEC14L3_ENST00000401751.1_De_novo_Start_OutOfFrame|SEC14L3_ENST00000540910.1_De_novo_Start_InFrame			Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)							integral to membrane|intracellular	lipid binding|transporter activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CGGAGCCAGCGTAGAAGGAAA	0.567													A	30866506	G	A	30866506	1	1	774	1	0	0	0	0	0	0	0	0	14076	1145	40	1		1	SEC14L3	22	30866506	Translation_Start_Site	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08		30866506	20438060	77	57626											
ABCB7	22	broad.mit.edu	37	chrX	74282268	74282268	+	Splice_Site	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actctttgcttttctcctccTggtaaaggaaaattttactt	9	18	5	9	0	2	0	0	0	2	0	4	1	3	1	2	2	2	2	2	2	5	7			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:74282268T>C	ENST00000253577.3	-	14	1859		c.e14-2		ABCB7_ENST00000339447.4_Splice_Site|ABCB7_ENST00000373394.3_Splice_Site	NM_001271696.1|NM_004299.3	NP_001258625.1|NP_004290.2	O75027	ABCB7_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 7						cellular iron ion homeostasis	integral to membrane|mitochondrial inner membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances|heme transporter activity			breast(1)|endometrium(5)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)	20						TTTCTCCTCCTGGTAAAGGAA	0.363													C	74282268	T	C	74282268	5	2	774	1	0	0	0	0	0	0	1	0	46	1594	55	3	440	3	ABCB7	23	74282268	Splice_Site	SNP	T	TCGA-TQ-A7RW-01A-11D-A33T-08		74282268	80988292	78	57627											
ATRX	546	broad.mit.edu	37	chrX	76937867	76937876	+	Frame_Shift_Del	DEL	AGCCATCCTG	AGCCATCCTG	-																															tttctctgcaatatcagataAgccatcctgtacttttttac																										TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:76937867_76937876delAGCCATCCTG	ENST00000373344.5	-	9	3086_3095	c.2872_2881delCAGGATGGCT	c.(2872-2883)caggatggcttafs	p.QDGL958fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.QDGL920fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	958					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)	ATATCAGATAAGCCATCCTGTACTTTTTTA	0.348			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76937876	AGCCATCCTG	-	76937867	7	5	774	1	0	1	0	1	0	0	0	0	1213	69	3	0	4705	0	ATRX	23	76937867	Frame_Shift_Del	DEL	AGCCATCCTG	TCGA-TQ-A7RW-01A-11D-A33T-08	2655599	76937867	78332693	79	57628											
CXorf40A	91966	broad.mit.edu	37	chrX	148627360	148627360	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agctgctggtggagagactcGggatgactcctgctcagatt	8	10	14	9	1	1	3	1	1	0	2	3	6	2	5	1	3	3	3	1	3	0	1			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:148627360G>A	ENST00000441248.1	+	3	1771	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40A_ENST00000423540.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000359293.5_Missense_Mutation_p.G62R|CXorf40A_ENST00000393985.3_Missense_Mutation_p.G62R|CXorf40A_ENST00000450602.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000514208.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000422892.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000434353.2_Missense_Mutation_p.G62R|CXorf40A_ENST00000423421.1_Missense_Mutation_p.G62R|CXorf40A_ENST00000428236.1_5'UTR			Q8TE69	CX04A_HUMAN	chromosome X open reading frame 40A	62							protein binding			breast(1)|endometrium(3)|large_intestine(1)|lung(2)	7	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					GGAGAGACTCGGGATGACTCC	0.567													A	148627360	G	A	148627360	3	1	774	1	0	0	0	0	1	0	0	0	4141	1116	39	1	186	1	CXorf40A	23	148627360	Missense_Mutation	SNP	G	TCGA-TQ-A7RW-01A-11D-A33T-08	71689493	148627360	6643200	80	57629											
CXorf40B	541578	broad.mit.edu	37	chrX	149101909	149101909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctgagcaggagtcatccCgagtctctccaccagcagct	10	8	9	14	1	3	1	1	1	2	0	6	3	5	2	3	1	3	3	3	1	1	0			TCGA-TQ-A7RW-01A-11D-A33T-08	TCGA-TQ-A7RW-10A-01D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b35b017-e463-4ffc-9ccb-97ff23804209	56a37791-5862-47cb-b9b2-0d0c662ec2c9	g.chrX:149101909C>T	ENST00000370406.3	-	4	1012	c.184G>A	c.(184-186)Ggg>Agg	p.G62R	CXorf40B_ENST00000462691.1_Missense_Mutation_p.G62R|CXorf40B_ENST00000355203.2_Missense_Mutation_p.G62R|CXorf40B_ENST00000370404.1_Missense_Mutation_p.G62R			Q96DE9	CX04B_HUMAN	chromosome X open reading frame 40B	62										endometrium(1)|lung(4)	5	Acute lymphoblastic leukemia(192;6.56e-05)					GGAGTCATCCCGAGTCTCTCC	0.562													T	149101909	C	T	149101909	3	4	774	1	0	0	0	0	1	0	0	0	4142	652	23	1	300	1	CXorf40B	23	149101909	Missense_Mutation	SNP	C	TCGA-TQ-A7RW-01A-11D-A33T-08	474549	149101909	6168651	81	57630											
EIF2AK3	9451	broad.mit.edu	37	chr2	88874643	88874643	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaagcttcagaaggacaaagTtcaaaggagtgcccctcatc	14	7	10	10	0	3	1	3	0	0	1	4	4	3	3	2	2	2	2	2	2	4	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:88874643T>C	ENST00000303236.3	-	13	2659	c.2358A>G	c.(2356-2358)gaA>gaG	p.E786E	AC104134.2_ENST00000413234.1_RNA|EIF2AK3_ENST00000470706.1_Intron|EIF2AK3_ENST00000419748.1_Silent_p.E635E	NM_004836.5	NP_004827.4	Q9NZJ5	E2AK3_HUMAN	eukaryotic translation initiation factor 2-alpha kinase 3	786	Protein kinase.				activation of caspase activity|bone mineralization|calcium-mediated signaling|chondrocyte development|endocrine pancreas development|endoplasmic reticulum organization|endoplasmic reticulum unfolded protein response|ER overload response|insulin secretion|insulin-like growth factor receptor signaling pathway|negative regulation of myelination|negative regulation of translational initiation in response to stress|protein autophosphorylation|protein homooligomerization	endoplasmic reticulum membrane|integral to membrane	ATP binding|eukaryotic translation initiation factor 2alpha kinase activity|identical protein binding			ovary(3)	3						AAGGACAAAGTTCAAAGGAGT	0.453													C	88874643	T	C	88874643	2	2	775	1	0	0	0	0	0	0	0	1	5037	1722	60	3		3	EIF2AK3	2	88874643	Silent	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		88874643	154324730	1	57631											
LCT	3938	broad.mit.edu	37	chr2	136566894	136566894	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggaaagatgttgcttgccAccaagccattgatcagcctg	10	10	11	10	0	1	2	1	1	0	1	1	3	1	3	4	1	4	2	4	1	2	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:136566894A>G	ENST00000264162.2	-	8	3033	c.3023T>C	c.(3022-3024)gTg>gCg	p.V1008A		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	1008	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		GTTGCTTGCCACCAAGCCATT	0.507													G	136566894	A	G	136566894	3	3	775	1	0	0	0	0	1	0	0	0	8752	159	6	3	2800	3	LCT	2	136566894	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	47692251	136566894	106632479	2	57632											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	775	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	72546218	209113112	34086261	3	57633											
NEU2	4759	broad.mit.edu	37	chr2	233898830	233898830	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctctccctactcagtggcAagctcaggaggtggtggccc	6	9	12	14	0	3	0	2	0	1	0	5	1	4	1	2	5	2	2	2	5	2	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr2:233898830A>G	ENST00000233840.3	+	2	206	c.206A>G	c.(205-207)cAa>cGa	p.Q69R		NM_005383.2	NP_005374.2	Q9Y3R4	NEUR2_HUMAN	sialidase 2 (cytosolic sialidase)	69							exo-alpha-sialidase activity			endometrium(3)|large_intestine(2)|lung(10)|skin(2)|urinary_tract(1)	18		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0271)|Acute lymphoblastic leukemia(138;0.0326)|Lung NSC(271;0.0839)		Epithelial(121;7.17e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000311)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(119;0.00942)|GBM - Glioblastoma multiforme(43;0.0488)		ACTCAGTGGCAAGCTCAGGAG	0.622													G	233898830	A	G	233898830	3	3	775	1	0	0	0	0	1	0	0	0	10418	130	5	3	212	3	NEU2	2	233898830	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	24785718	233898830	9300543	4	57634											
CDCP1	64866	broad.mit.edu	37	chr3	45160021	45160021	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tatatgtcttttagaaatgaCgatgtaacagggttttgcca	12	15	9	5	1	1	2	0	1	1	1	1	3	1	2	1	1	2	2	1	1	5	7			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:45160021C>G	ENST00000296129.1	-	2	309	c.175G>C	c.(175-177)Gtc>Ctc	p.V59L	CDCP1_ENST00000490471.1_5'UTR|CDCP1_ENST00000425231.2_Missense_Mutation_p.V59L	NM_022842.3	NP_073753.3	Q9H5V8	CDCP1_HUMAN	CUB domain containing protein 1	59						extracellular region|integral to membrane|plasma membrane				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|skin(4)|urinary_tract(1)	29				BRCA - Breast invasive adenocarcinoma(193;0.00928)|KIRC - Kidney renal clear cell carcinoma(197;0.0519)|Kidney(197;0.0651)		TTAGAAATGACGATGTAACAG	0.428													G	45160021	C	G	45160021	3	3	775	1	0	0	0	0	1	0	0	0	3123	536	19	4	2375	4	CDCP1	3	45160021	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		45160021	152862409	5	57635											
EPHA3	2042	broad.mit.edu	37	chr3	89390072	89390072	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattttgtttgtagcttgtcGaccaggtttctacaaggcat	8	16	9	8	1	1	0	0	0	1	0	2	1	1	0	1	2	2	5	1	2	3	7			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:89390072G>A	ENST00000336596.2	+	4	1046	c.821G>A	c.(820-822)cGa>cAa	p.R274Q	EPHA3_ENST00000494014.1_Missense_Mutation_p.R274Q|EPHA3_ENST00000452448.2_Missense_Mutation_p.R274Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	274	Cys-rich.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		GTAGCTTGTCGACCAGGTTTC	0.353										TSP Lung(6;0.00050)			A	89390072	G	A	89390072	3	1	775	1	0	0	0	0	1	0	0	0	5209	1058	37	1	835	1	EPHA3	3	89390072	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	44230051	89390072	108632358	6	57636											
PIK3CA	5290	broad.mit.edu	37	chr3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacaaatgaatgatgcacAtcatggtggctggacaacaa	17	7	10	7	0	1	2	1	2	0	0	1	4	1	3	0	3	3	2	0	3	5	0	rs121913279		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			G	178952085	A	G	178952085	3	3	775	1	0	0	0	0	1	0	0	0	11990	217	8	3	3218	3	PIK3CA	3	178952085	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	89562013	178952085	19070345	7	57637											
ATP13A4	84239	broad.mit.edu	37	chr3	193207598	193207598	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagcatattccttatagtctTcactaaaccacaaacagaca	17	10	3	11	0	2	1	1	0	1	1	3	1	3	1	2	0	3	1	2	0	7	6			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr3:193207598T>G	ENST00000342695.4	-	7	981	c.659A>C	c.(658-660)gAa>gCa	p.E220A	ATP13A4_ENST00000392443.3_Missense_Mutation_p.E220A|ATP13A4_ENST00000295548.3_Missense_Mutation_p.E220A	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	220					ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTATAGTCTTCACTAAACCA	0.338													G	193207598	T	G	193207598	3	3	775	1	0	0	0	0	1	0	0	0	1131	1783	62	5	3027	5	ATP13A4	3	193207598	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	14255513	193207598	4814832	8	57638											
EPHA5	2044	broad.mit.edu	37	chr4	66197690	66197690	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attatcagaaaaattactcaCtccaaggtcacctgagccac	15	9	5	12	0	3	2	3	1	0	1	4	2	4	2	3	1	2	0	3	1	5	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:66197690C>T	ENST00000273854.3	-	17	3609		c.e17+1		EPHA5_ENST00000432638.2_Splice_Site|EPHA5_ENST00000354839.4_Splice_Site|EPHA5_ENST00000511294.1_Silent_p.E1004E	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5						cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						AAATTACTCACTCCAAGGTCA	0.408										TSP Lung(17;0.13)			T	66197690	C	T	66197690	5	4	775	1	0	0	0	0	0	0	1	0	5211	579	20	2	112	2	EPHA5	4	66197690	Splice_Site	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		66197690	124956586	9	57639											
SCD5	79966	broad.mit.edu	37	chr4	83557824	83557824	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ggtttccatacatgtgggcgGcgctgttgaccagccagctg	6	10	14	11	2	0	1	0	1	0	0	1	1	1	1	3	3	3	4	3	3	1	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:83557824G>A	ENST00000319540.4	-	4	1041	c.722C>T	c.(721-723)gCc>gTc	p.A241V		NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	241					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	iron ion binding|stearoyl-CoA 9-desaturase activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				CATGTGGGCGGCGCTGTTGAC	0.562													A	83557824	G	A	83557824	3	1	775	1	0	0	0	0	1	0	0	0	13979	1203	42	2	278	2	SCD5	4	83557824	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	17360134	83557824	107596452	10	57640											
EGF	1950	broad.mit.edu	37	chr4	110932374	110932374	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atagggtcaatgcaaccaacTtcatggaggcaggagcccca	13	6	11	11	0	2	0	2	0	0	0	2	2	2	2	3	4	4	2	3	4	4	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr4:110932374T>C	ENST00000265171.5	+	24	3832	c.3387T>C	c.(3385-3387)acT>acC	p.T1129T	EGF_ENST00000503392.1_Silent_p.T1088T|EGF_ENST00000509793.1_Silent_p.T1087T	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	1129					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	TGCAACCAACTTCATGGAGGC	0.453													C	110932374	T	C	110932374	2	2	775	1	0	0	0	0	0	0	0	1	5001	1596	56	3		3	EGF	4	110932374	Silent	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	27374550	110932374	80221902	11	57641											
PCDHB5	26167	broad.mit.edu	37	chr5	140515080	140515080	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtttcttgctatattgttgCttttgtgggaggctggctct	3	20	12	6	0	2	0	0	0	2	0	2	1	2	1	0	3	2	6	0	3	2	8			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr5:140515080C>T	ENST00000231134.5	+	1	281	c.64C>T	c.(64-66)Ctt>Ttt	p.L22F		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN		22					calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding|protein binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			TATATTGTTGCTTTTGTGGGA	0.488													T	140515080	C	T	140515080	3	4	775	1	0	0	0	0	1	0	0	0	11621	797	28	2	66	2	PCDHB5	5	140515080	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		140515080	40400180	12	57642											
KIAA0319	9856	broad.mit.edu	37	chr6	24596226	24596226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctcagggagttttggggCaggggttgaagccgactcat	7	11	15	8	1	3	1	2	1	1	0	4	3	3	2	1	5	1	3	1	5	1	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:24596226C>T	ENST00000535378.1	-	4	1291	c.649G>A	c.(649-651)Gcc>Acc	p.A217T	KIAA0319_ENST00000430948.2_Missense_Mutation_p.A181T|KIAA0319_ENST00000537886.1_Missense_Mutation_p.A226T|KIAA0319_ENST00000378214.3_Missense_Mutation_p.A226T|KIAA0319_ENST00000543707.1_Missense_Mutation_p.A226T	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN	KIAA0319	226					negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	p.A226T(1)		breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						AGTTTTGGGGCAGGGGTTGAA	0.562													T	24596226	C	T	24596226	3	4	775	1	0	0	0	0	1	0	0	0	8226	710	25	2	2618	2	KIAA0319	6	24596226	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		24596226	146518841	13	57643											
SLC17A4	10050	broad.mit.edu	37	chr6	25769311	25769311	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tgagcattgccatcccagctAtggtgaacaacacagcccca	12	7	8	14	0	0	2	0	2	0	0	1	2	1	2	4	1	6	2	4	1	3	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:25769311A>G	ENST00000377905.4	+	3	309	c.190A>G	c.(190-192)Atg>Gtg	p.M64V	SLC17A4_ENST00000397076.2_Missense_Mutation_p.M10V|SLC17A4_ENST00000439485.2_Missense_Mutation_p.M64V	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	64					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						CATCCCAGCTATGGTGAACAA	0.478													G	25769311	A	G	25769311	3	3	775	1	0	0	0	0	1	0	0	0	14513	449	16	3	196	3	SLC17A4	6	25769311	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	1173085	25769311	145345756	14	57644											
GFRAL	389400	broad.mit.edu	37	chr6	55223800	55223800	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacctcacttgttcaggaagTgatgactgcaaagctgctta	11	11	10	9	0	2	2	2	2	0	0	2	4	2	3	1	1	3	4	1	1	3	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr6:55223800T>A	ENST00000340465.2	+	6	902	c.816T>A	c.(814-816)agT>agA	p.S272R		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	272						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			GTTCAGGAAGTGATGACTGCA	0.433													A	55223800	T	A	55223800	3	1	775	1	0	0	0	0	1	0	0	0	6407	1693	59	5	838	5	GFRAL	6	55223800	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	29454489	55223800	115891267	15	57645											
TRRAP	8295	broad.mit.edu	37	chr7	98507916	98507916	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgtgcctcccttcgagaagCaaggagaaaaggacaaggaa	15	4	12	10	2	0	2	0	0	0	2	2	6	1	4	3	3	2	1	3	3	6	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:98507916C>G	ENST00000359863.4	+	15	1797	c.1588C>G	c.(1588-1590)Caa>Gaa	p.Q530E	TRRAP_ENST00000446306.3_Missense_Mutation_p.Q530E|TRRAP_ENST00000355540.3_Missense_Mutation_p.Q530E	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	530					histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			CTTCGAGAAGCAAGGAGAAAA	0.617													G	98507916	C	G	98507916	3	3	775	1	0	0	0	0	1	0	0	0	16702	711	25	4	1642	4	TRRAP	7	98507916	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		98507916	60630747	16	57646											
EPHB4	2050	broad.mit.edu	37	chr7	100403136	100403136	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcctcacccgccattctcccGggccacgattttgaggctgg	5	10	10	16	3	2	1	1	1	1	0	4	2	3	1	5	3	0	1	5	3	0	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr7:100403136G>C	ENST00000358173.3	-	15	3133	c.2665C>G	c.(2665-2667)Cgg>Ggg	p.R889G	EPHB4_ENST00000360620.3_Missense_Mutation_p.R889G	NM_004444.4	NP_004435.3	P54760	EPHB4_HUMAN	EPH receptor B4	889	Protein kinase.		R -> W (in a gastric adenocarcinoma sample; somatic mutation).		cell proliferation|organ morphogenesis|regulation of angiogenesis	cell surface|integral to plasma membrane	ATP binding|ephrin receptor activity	p.R889W(1)		breast(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(7)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(3)	47	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCATTCTCCCGGGCCACGATT	0.637													C	100403136	G	C	100403136	3	2	775	1	0	0	0	0	1	0	0	0	5218	1115	39	4	310	4	EPHB4	7	100403136	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	1895220	100403136	58735527	17	57647											
MYO3A	53904	broad.mit.edu	37	chr10	26315440	26315440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattggcatccatcaatgcaTgggaggcacagaaaaggcca	14	6	11	10	0	1	1	1	0	0	1	2	2	2	2	2	4	1	3	2	4	3	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr10:26315440T>C	ENST00000265944.5	+	10	1098	c.932T>C	c.(931-933)aTg>aCg	p.M311T	MYO3A_ENST00000543632.1_Missense_Mutation_p.M311T	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	311					protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity			NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						CATCAATGCATGGGAGGCACA	0.333													C	26315440	T	C	26315440	3	2	775	1	0	0	0	0	1	0	0	0	10152	1464	51	3	962	3	MYO3A	10	26315440	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		26315440	109219307	18	57648											
SYT9	143425	broad.mit.edu	37	chr11	7439282	7439282	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	accttgaatcctgtttacaaCgaagccatagtctttgatgt	11	14	7	9	1	1	2	0	2	1	0	2	3	2	2	3	0	3	1	3	0	5	5			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:7439282C>T	ENST00000318881.6	+	5	1497	c.1260C>T	c.(1258-1260)aaC>aaT	p.N420N		NM_175733.3	NP_783860.1	Q86SS6	SYT9_HUMAN	synaptotagmin IX	420	C2 2.					cell junction|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			NS(1)|endometrium(2)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	38				Epithelial(150;1.34e-07)|LUSC - Lung squamous cell carcinoma(625;0.0949)		CTGTTTACAACGAAGCCATAG	0.468													T	7439282	C	T	7439282	2	4	775	1	0	0	0	0	0	0	0	1	15578	535	19	1		1	SYT9	11	7439282	Silent	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		7439282	127567234	19	57649											
OR4C6	219432	broad.mit.edu	37	chr11	55433471	55433471	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtgtcagactcaatcatcAcacccatgttaaatcccttg	11	12	5	13	0	4	1	4	0	0	1	5	1	5	1	2	0	0	1	2	0	3	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:55433471A>G	ENST00000314259.3	+	1	858	c.829A>G	c.(829-831)Aca>Gca	p.T277A		NM_001004704.1	NP_001004704.1	Q8NH72	OR4C6_HUMAN	olfactory receptor, family 4, subfamily C, member 6	277					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(4)|lung(49)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	71						CTCAATCATCACACCCATGTT	0.453													G	55433471	A	G	55433471	3	3	775	1	0	0	0	0	1	0	0	0	11128	159	6	3	831	3	OR4C6	11	55433471	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	47994189	55433471	79573045	20	57650											
CDC42BPG	55561	broad.mit.edu	37	chr11	64597514	64597514	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcaaggtcagctgctgcacGcgccggcactcccccacctg	6	6	10	19	3	2	0	2	0	0	0	3	0	3	0	4	2	3	4	4	2	1	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:64597514G>A	ENST00000342711.5	-	30	3395	c.3396C>T	c.(3394-3396)cgC>cgT	p.R1132R		NM_017525.2	NP_059995.2	Q6DT37	MRCKG_HUMAN	CDC42 binding protein kinase gamma (DMPK-like)	1132	CNH.				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			central_nervous_system(1)|lung(3)	4						GCTGCTGCACGCGCCGGCACT	0.662													A	64597514	G	A	64597514	2	1	775	1	0	0	0	0	0	0	0	1	3104	1074	38	1		1	CDC42BPG	11	64597514	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	9164043	64597514	70409002	21	57651											
DSCAML1	57453	broad.mit.edu	37	chr11	117335712	117335712	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agagggccccgtgccagcccGattgaaggcttggaccacca	9	5	13	14	2	0	2	0	1	0	1	0	4	0	3	6	3	2	1	6	3	1	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr11:117335712G>A	ENST00000321322.6	-	17	3392	c.3391C>T	c.(3391-3393)Cgg>Tgg	p.R1131W	DSCAML1_ENST00000527706.1_Missense_Mutation_p.R861W	NM_020693.2	NP_065744.2	Q8TD84	DSCL1_HUMAN	Down syndrome cell adhesion molecule like 1	1071	Fibronectin type-III 3.				axonogenesis|brain development|cell fate determination|dorsal/ventral pattern formation|embryonic skeletal system morphogenesis|homophilic cell adhesion	cell surface|integral to membrane|plasma membrane	protein homodimerization activity			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(24)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	110	all_hematologic(175;0.0487)	Breast(348;0.0424)|Medulloblastoma(222;0.0523)|all_hematologic(192;0.232)		BRCA - Breast invasive adenocarcinoma(274;9.12e-06)|Epithelial(105;0.00172)		GTGCCAGCCCGATTGAAGGCT	0.617													A	117335712	G	A	117335712	3	1	775	1	0	0	0	0	1	0	0	0	4808	1057	37	1	3018	1	DSCAML1	11	117335712	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	52738198	117335712	17670804	22	57652											
KRT73	319101	broad.mit.edu	37	chr12	53005016	53005016	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcacactctcaatctccgagCgcagtctttggatgagacgg	9	10	10	12	3	4	1	2	1	3	1	6	4	4	2	1	2	1	1	1	2	1	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:53005016C>T	ENST00000305748.3	-	6	1116	c.1082G>A	c.(1081-1083)cGc>cAc	p.R361H	RP11-641A6.2_ENST00000552364.1_RNA|RP11-641A6.2_ENST00000551089.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73	361	Coil 2.|Rod.					keratin filament	structural molecule activity			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		AATCTCCGAGCGCAGTCTTTG	0.567													T	53005016	C	T	53005016	3	4	775	1	0	0	0	0	1	0	0	0	8544	768	27	1	556	1	KRT73	12	53005016	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		53005016	80846879	23	57653											
TMTC3	160418	broad.mit.edu	37	chr12	88566414	88566414	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	accatttattcctgcatcgaAccttttttttccagttggat	8	18	5	10	1	0	0	0	0	0	0	3	2	2	1	4	1	2	2	4	1	2	8			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:88566414A>G	ENST00000266712.6	+	8	1311	c.1091A>G	c.(1090-1092)aAc>aGc	p.N364S		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	364						integral to membrane	binding			NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						CCTGCATCGAACCTTTTTTTT	0.308													G	88566414	A	G	88566414	3	3	775	1	0	0	0	0	1	0	0	0	16362	43	2	3	1117	3	TMTC3	12	88566414	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	35561398	88566414	45285481	24	57654											
MSI1	4440	broad.mit.edu	37	chr12	120791134	120791134	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aggtgtagccaggggcgaggCctgtataactccggctggcg	7	7	17	10	3	0	0	0	0	0	0	1	1	1	0	3	6	2	3	3	6	3	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:120791134C>A	ENST00000257552.2	-	10	789	c.701G>T	c.(700-702)gGc>gTc	p.G234V	MSI1_ENST00000546622.1_5'UTR	NM_002442.3	NP_002433.1	O43347	MSI1H_HUMAN	musashi RNA-binding protein 1	234					nervous system development	cytoplasm|nucleus	nucleotide binding			breast(4)|central_nervous_system(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(5)|skin(2)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					AGGGGCGAGGCCTGTATAACT	0.612													A	120791134	C	A	120791134	3	1	775	1	0	0	0	0	1	0	0	0	9951	739	26	4	407	4	MSI1	12	120791134	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	32224720	120791134	13060761	25	57655											
ABCB9	23457	broad.mit.edu	37	chr12	123424704	123424704	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggcgctgatgggcttgccgTccagcagcacccggcccccc	5	5	13	18	3	0	1	0	1	0	0	1	1	1	1	6	3	3	4	6	3	0	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr12:123424704T>C	ENST00000542678.1	-	9	4535	c.1697A>G	c.(1696-1698)gAc>gGc	p.D566G	ABCB9_ENST00000392439.3_Missense_Mutation_p.D566G|ABCB9_ENST00000344275.7_Missense_Mutation_p.D566G|ABCB9_ENST00000540285.1_Missense_Mutation_p.D503G|ABCB9_ENST00000346530.5_Missense_Mutation_p.D523G|ABCB9_ENST00000541983.1_5'UTR|ABCB9_ENST00000280560.8_Missense_Mutation_p.D566G|ABCB9_ENST00000442028.2_Missense_Mutation_p.D566G|ABCB9_ENST00000442833.2_Missense_Mutation_p.D566G			Q9NP78	ABCB9_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 9	566	ABC transporter.				positive regulation of T cell mediated cytotoxicity|protein transport	lysosomal membrane|plasma membrane|TAP complex	ATP binding|MHC class I protein binding|oligopeptide-transporting ATPase activity|peptide antigen binding|protein homodimerization activity|TAP1 binding|TAP2 binding|tapasin binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(1)	18	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.84e-05)|Epithelial(86;0.000152)|BRCA - Breast invasive adenocarcinoma(302;0.111)		GGGCTTGCCGTCCAGCAGCAC	0.632													C	123424704	T	C	123424704	3	2	775	1	0	0	0	0	1	0	0	0	48	1667	58	3	619	3	ABCB9	12	123424704	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	2633570	123424704	10427191	26	57656											
RTN1	6252	broad.mit.edu	37	chr14	60069953	60069957	+	Frame_Shift_Del	DEL	GTAGA	GTAGA	-																															gtgcttaacatacactacagGtagagtaaacattgaaacca																								rs147040027		TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr14:60069953_60069957delGTAGA	ENST00000267484.5	-	7	2537_2541	c.2202_2206delTCTAC	c.(2200-2208)actctacctfs	p.LP735fs	RTN1_ENST00000342503.4_Frame_Shift_Del_p.LP167fs|RTN1_ENST00000395090.1_Frame_Shift_Del_p.LP152fs|RTN1_ENST00000557422.1_5'UTR	NM_021136.2	NP_066959.1	Q16799	RTN1_HUMAN	reticulon 1	735	Reticulon.				neuron differentiation	integral to endoplasmic reticulum membrane	signal transducer activity	p.P736S(1)		central_nervous_system(2)|kidney(2)|large_intestine(9)|lung(30)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	49				OV - Ovarian serous cystadenocarcinoma(108;0.0968)		TACACTACAGGTAGAGTAAACATTG	0.298													-	60069957	GTAGA	-	60069953	7	5	775	1	0	1	0	1	0	0	0	0	13816	1261	44	0	136	0	RTN1	14	60069953	Frame_Shift_Del	DEL	GTAGA	TCGA-TQ-A8XE-01A-11D-A36O-08		60069953	47279587	27	57657											
HERC2	8924	broad.mit.edu	37	chr15	28437207	28437207	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cattcaggctcttcaccatgCgggaccagctgtccagcagc	8	8	10	15	1	3	0	2	0	1	0	4	1	4	1	3	2	4	3	3	2	0	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr15:28437207C>T	ENST00000261609.7	-	53	8459	c.8351G>A	c.(8350-8352)cGc>cAc	p.R2784H		NM_004667.5	NP_004658.3	O95714	HERC2_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 2	2784	DOC.				DNA repair|intracellular protein transport|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	guanyl-nucleotide exchange factor activity|heme binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(3)|cervix(3)|endometrium(20)|kidney(11)|large_intestine(33)|lung(95)|ovary(7)|prostate(8)|skin(7)|upper_aerodigestive_tract(8)|urinary_tract(4)	204		all_lung(180;1.3e-11)|Breast(32;0.000194)|Colorectal(260;0.227)		all cancers(64;3.93e-09)|Epithelial(43;9.99e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0271)|GBM - Glioblastoma multiforme(186;0.0497)|Lung(196;0.199)		CTTCACCATGCGGGACCAGCT	0.587											OREG0022997	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	28437207	C	T	28437207	3	4	775	1	0	0	0	0	1	0	0	0	7113	768	27	1	6317	1	HERC2	15	28437207	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		28437207	74094185	28	57658											
GPR97	222487	broad.mit.edu	37	chr16	57722359	57722359	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gattggaccaggcccactccGcatctcaagaataggaaggc	12	6	11	12	1	1	1	1	0	1	1	3	4	2	3	3	4	0	1	3	4	4	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr16:57722359G>A	ENST00000333493.4	+	12	1797	c.1636G>A	c.(1636-1638)Gca>Aca	p.A546T	GPR97_ENST00000327655.6_Intron|RP11-405F3.4_ENST00000563062.1_RNA|GPR97_ENST00000450388.3_Missense_Mutation_p.A426T	NM_170776.4	NP_740746.4	Q86Y34	GPR97_HUMAN	G protein-coupled receptor 97	546					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GGCCCACTCCGCATCTcaaga	0.552													A	57722359	G	A	57722359	3	1	775	1	0	0	0	0	1	0	0	0	6775	1087	38	1	1682	1	GPR97	16	57722359	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		57722359	32632394	29	57659											
TP53	7157	broad.mit.edu	37	chr17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acgcaaatttccttccactcGgataagatgctgaggagggg	11	9	12	9	2	0	2	0	1	0	1	3	4	2	4	2	4	1	2	2	4	2	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:7578263G>A	ENST00000420246.2	-	6	718	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000269305.4_Nonsense_Mutation_p.R196*|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	196	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)		CCTTCCACTCGGATAAGATGC	0.552		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)			A	7578263	G	A	7578263	4	1	775	1	0	0	0	0	0	1	0	0	16482	1124	39	1	708	1	TP53	17	7578263	Nonsense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		7578263	73616947	30	57660											
SLC5A10	125206	broad.mit.edu	37	chr17	18872700	18872700	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacgccctgcagacgctcaTcatggtggtgggggctgtca	6	8	16	11	2	3	1	3	0	0	1	3	2	3	2	1	5	1	3	1	5	0	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr17:18872700T>C	ENST00000395647.2	+	7	646	c.605T>C	c.(604-606)aTc>aCc	p.I202T	SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Missense_Mutation_p.I202T|SLC5A10_ENST00000395645.3_Missense_Mutation_p.I202T|SLC5A10_ENST00000317977.6_Intron|FAM83G_ENST00000388995.6_3'UTR|SLC5A10_ENST00000395643.2_Intron	NM_152351.4	NP_689564.3	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10	202					sodium ion transport|transmembrane transport	integral to membrane	transporter activity			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						CAGACGCTCATCATGGTGGTG	0.637													C	18872700	T	C	18872700	3	2	775	1	0	0	0	0	1	0	0	0	14756	1435	50	3	631	3	SLC5A10	17	18872700	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	11294437	18872700	62322510	31	57661											
RTTN	25914	broad.mit.edu	37	chr18	67721477	67721477	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccaataaacatgactgcAgaagcctggacaaagaggat	17	5	9	10	0	0	3	0	1	0	2	0	5	0	5	3	2	3	1	3	2	5	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr18:67721477A>G	ENST00000255674.6	-	38	5361	c.5075T>C	c.(5074-5076)cTg>cCg	p.L1692P	RTTN_ENST00000454359.1_3'UTR	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	1692							binding			NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACATGACTGCAGAAGCCTGGA	0.418													G	67721477	A	G	67721477	3	3	775	1	0	0	0	0	1	0	0	0	13828	188	7	3	1653	3	RTTN	18	67721477	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08		67721477	10355771	32	57662											
CD209	30835	broad.mit.edu	37	chr19	7809880	7809880	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcccccacttctttgcaggCggtgatggagtcgtgccagt	5	10	14	12	2	1	1	0	1	1	0	2	2	1	2	3	4	2	1	3	4	0	2	rs139712001	byFrequency	TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:7809880C>T	ENST00000315599.7	-	5	869	c.847G>A	c.(847-849)Gcc>Acc	p.A283T	CD209_ENST00000602261.1_Missense_Mutation_p.A191T|CD209_ENST00000601256.1_Missense_Mutation_p.A259T|CD209_ENST00000301357.8_Missense_Mutation_p.A147T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Missense_Mutation_p.A283T|CD209_ENST00000593660.1_Missense_Mutation_p.A213T|CD209_ENST00000601951.1_Missense_Mutation_p.A259T|CD209_ENST00000315591.8_Missense_Mutation_p.A259T|CD209_ENST00000204801.8_Missense_Mutation_p.A239T|CD209_ENST00000593821.1_Missense_Mutation_p.A147T|CD209_ENST00000394173.4_Missense_Mutation_p.A122T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	283	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.A283T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						TCTTTGCAGGCGGTGATGGAG	0.582													T	7809880	C	T	7809880	3	4	775	1	0	0	0	0	1	0	0	0	3014	768	27	1	379	1	CD209	19	7809880	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		7809880	51319103	33	57663											
CYP2A7	1549	broad.mit.edu	37	chr19	41382446	41382446	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttaccgatggaaaagggcAcaaaagcatcactcttctta	14	10	7	10	1	4	0	1	0	3	0	4	2	4	1	1	2	2	2	1	2	6	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:41382446A>G	ENST00000301146.4	-	8	1830	c.1289T>C	c.(1288-1290)gTg>gCg	p.V430A	CYP2A7_ENST00000291764.3_Missense_Mutation_p.V379A|CTC-490E21.12_ENST00000601627.1_Intron	NM_000764.2	NP_000755.2	P20853	CP2A7_HUMAN	cytochrome P450, family 2, subfamily A, polypeptide 7	430						endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)			GGAAAAGGGCACAAAAGCATC	0.567													G	41382446	A	G	41382446	3	3	775	1	0	0	0	0	1	0	0	0	4196	159	6	3	203	3	CYP2A7	19	41382446	Missense_Mutation	SNP	A	TCGA-TQ-A8XE-01A-11D-A36O-08	33572566	41382446	17746537	34	57664											
SIGLEC14	100049587	broad.mit.edu	37	chr19	52147181	52147181	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gattgagggcttttccctccCggaaccagctcagtgaggca	8	9	12	12	1	1	2	1	2	0	0	3	4	3	3	3	3	2	3	3	3	1	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr19:52147181C>T	ENST00000360844.6	-	5	904	c.863G>A	c.(862-864)cGg>cAg	p.R288Q	SIGLEC5_ENST00000534261.2_Intron|SIGLEC5_ENST00000222107.4_Intron|SIGLEC5_ENST00000599649.1_Intron|SIGLEC5_ENST00000429354.3_Intron	NM_001098612.1	NP_001092082.1	Q08ET2	SIG14_HUMAN	sialic acid binding Ig-like lectin 14	288	Ig-like C2-type 2.				cell adhesion	integral to membrane|plasma membrane	protein binding|sugar binding	p.R281L(1)|p.R288L(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000965)|OV - Ovarian serous cystadenocarcinoma(262;0.0195)		TTTTCCCTCCCGGAACCAGCT	0.597													T	52147181	C	T	52147181	3	4	775	1	0	0	0	0	1	0	0	0	14403	652	23	1	339	1	SIGLEC14	19	52147181	Missense_Mutation	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	10764735	52147181	6981802	35	57665											
TPX2	22974	broad.mit.edu	37	chr20	30371533	30371533	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aattcaaagcacgtgaacttGatcccagaatacttgaaggt	15	10	8	8	1	1	4	1	3	0	1	2	4	2	4	1	1	3	1	1	1	6	4			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30371533G>A	ENST00000340513.4	+	13	1858	c.1330G>A	c.(1330-1332)Gat>Aat	p.D444N	TPX2_ENST00000300403.6_Missense_Mutation_p.D408N			Q9ULW0	TPX2_HUMAN	TPX2, microtubule-associated	408					activation of protein kinase activity|apoptosis|cell division|cell proliferation|mitosis|regulation of mitotic spindle organization	cytoplasm|microtubule|nucleus|spindle pole	ATP binding|GTP binding|protein kinase binding			cervix(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28			Epithelial(4;0.000771)|Colorectal(19;0.00306)|all cancers(5;0.004)|COAD - Colon adenocarcinoma(19;0.0347)|OV - Ovarian serous cystadenocarcinoma(3;0.0656)			ACGTGAACTTGATCCCAGAAT	0.363													A	30371533	G	A	30371533	3	1	775	1	0	0	0	0	1	0	0	0	16533	1290	45	2	1260	2	TPX2	20	30371533	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08		30371533	32653987	36	57666											
FOXS1	2307	broad.mit.edu	37	chr20	30432396	30432396	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gcgtccggtataggcaggggGtcagccccaatgggtagccg	7	6	17	11	3	1	0	1	0	0	0	2	0	2	0	4	5	2	3	4	5	4	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr20:30432396G>T	ENST00000375978.3	-	1	1024	c.950C>A	c.(949-951)aCc>aAc	p.T317N		NM_004118.3	NP_004109.1	O43638	FOXS1_HUMAN	forkhead box S1	317					anti-apoptosis|artery morphogenesis|blood vessel remodeling|camera-type eye development|cardiac muscle cell proliferation|collagen fibril organization|embryonic heart tube development|insulin receptor signaling pathway|lymphangiogenesis|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription, DNA-dependent|neural crest cell fate commitment|neuromuscular process controlling balance|Notch signaling pathway|ossification|paraxial mesodermal cell fate commitment|patterning of blood vessels|positive regulation of multicellular organism growth|positive regulation of transcription from RNA polymerase II promoter|regulation of blood vessel size|regulation of organ growth|somitogenesis|vascular endothelial growth factor receptor signaling pathway|vasculogenesis|ventricular cardiac muscle tissue morphogenesis	transcription factor complex	chromatin DNA binding|DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding			kidney(1)|large_intestine(3)|lung(3)|ovary(1)|urinary_tract(1)	9						TAGGCAGGGGGTCAGCCCCAA	0.647													T	30432396	G	T	30432396	3	4	775	1	0	0	0	0	1	0	0	0	6086	1261	44	4	46	4	FOXS1	20	30432396	Missense_Mutation	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	60863	30432396	32593124	37	57667											
CSF2RB	1439	broad.mit.edu	37	chr22	37333970	37333970	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacactgaggaccctggagTggcctctggttatgtctcct	6	11	13	11	0	2	1	0	1	2	0	3	4	2	4	3	5	0	1	3	5	1	1			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chr22:37333970T>C	ENST00000262825.5	+	14	2355	c.2138T>C	c.(2137-2139)gTg>gCg	p.V713A	CSF2RB_ENST00000403662.3_Missense_Mutation_p.V707A|CSF2RB_ENST00000406230.1_Missense_Mutation_p.V713A|CSF2RB_ENST00000536485.1_Missense_Mutation_p.V654A	NM_000395.2	NP_000386.1	P32927	IL3RB_HUMAN	colony stimulating factor 2 receptor, beta, low-affinity (granulocyte-macrophage)	707					respiratory gaseous exchange	granulocyte macrophage colony-stimulating factor receptor complex	cytokine receptor activity			breast(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(3)|pancreas(1)|skin(5)|upper_aerodigestive_tract(2)	42					Sargramostim(DB00020)	GACCCTGGAGTGGCCTCTGGT	0.612													C	37333970	T	C	37333970	3	2	775	1	0	0	0	0	1	0	0	0	3968	1696	59	3	2170	3	CSF2RB	22	37333970	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08		37333970	13970596	38	57668											
MXRA5	25878	broad.mit.edu	37	chrX	3241758	3241758	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtaaaatggtctgccccttgCtggttgacagccacacatct	9	11	9	12	0	2	1	0	1	2	0	2	1	2	1	3	2	3	3	3	2	2	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:3241758C>T	ENST00000217939.6	-	5	2122	c.1968G>A	c.(1966-1968)caG>caA	p.Q656Q		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	656	Ig-like C2-type 2.					extracellular region				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				CTGCCCCTTGCTGGTTGACAG	0.493													T	3241758	C	T	3241758	2	4	775	1	0	0	0	0	0	0	0	1	10079	796	28	2		2	MXRA5	23	3241758	Silent	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08		3241758	152028802	39	57669											
TIMP1	7076	broad.mit.edu	37	chrX	47442890	47442890	+	Translation_Start_Site	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccccagcagggcctgcaccTgtgtcccaccccacccacag	7	4	8	22	0	0	0	0	0	0	0	1	0	1	0	8	1	2	2	8	1	0	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:47442890T>A	ENST00000377018.2	+	0	222				SYN1_ENST00000295987.7_Intron|TIMP1_ENST00000218388.4_Missense_Mutation_p.C26S|TIMP1_ENST00000377017.1_Intron|SYN1_ENST00000340666.4_Intron|TIMP1_ENST00000456754.2_Missense_Mutation_p.C26S			P01033	TIMP1_HUMAN	TIMP metallopeptidase inhibitor 1						erythrocyte maturation|negative regulation of membrane protein ectodomain proteolysis|platelet activation|platelet degranulation|positive regulation of cell proliferation	platelet alpha granule lumen	metal ion binding|metalloendopeptidase inhibitor activity|protein binding			endometrium(1)|large_intestine(2)	3						GGCCTGCACCTGTGTCCCACC	0.622													A	47442890	T	A	47442890	1	1	775	1	0	0	0	0	0	0	0	0	16017	1580	55	5		5	TIMP1	23	47442890	Translation_Start_Site	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	44201132	47442890	107827670	40	57670											
TRMT2B	79979	broad.mit.edu	37	chrX	100275475	100275475	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacagactgtaagctgtgtaCcattgaaggctgcagtccat	11	10	10	10	0	0	2	0	1	0	1	1	2	1	2	2	1	3	5	2	1	3	3			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:100275475C>A	ENST00000338687.7	-	10	1839		c.e10+1		TRMT2B_ENST00000545398.1_Splice_Site|TRMT2B_ENST00000372931.5_Splice_Site|TRMT2B_ENST00000372936.3_Splice_Site|TRMT2B_ENST00000372935.1_Splice_Site|TRMT2B_ENST00000372939.1_Splice_Site			Q96GJ1	TRM2_HUMAN	tRNA methyltransferase 2 homolog B (S. cerevisiae)								tRNA (uracil-5-)-methyltransferase activity			breast(3)|endometrium(2)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	24						AAGCTGTGTACCATTGAAGGC	0.488													A	100275475	C	A	100275475	5	1	775	1	0	0	0	0	0	0	1	0	16667	521	18	4	361	4	TRMT2B	23	100275475	Splice_Site	SNP	C	TCGA-TQ-A8XE-01A-11D-A36O-08	52832585	100275475	54995085	41	57671											
MAGEC1	9947	broad.mit.edu	37	chrX	140994960	140994960	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagggggaggactccctGtctcctcactactttcctca	6	11	8	16	0	4	0	3	0	1	0	7	2	6	2	4	3	1	0	4	3	1	2			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:140994960G>A	ENST00000285879.4	+	4	2056	c.1770G>A	c.(1768-1770)ctG>ctA	p.L590L	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	590							protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					AGGACTCCCTGTCTCCTCACT	0.567										HNSCC(15;0.026)			A	140994960	G	A	140994960	2	1	775	1	0	0	0	0	0	0	0	1	9255	1364	48	2		2	MAGEC1	23	140994960	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	40719485	140994960	14275600	42	57672											
HMGB3	3149	broad.mit.edu	37	chrX	150156360	150156360	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaagaggaggaggaagaagaGgaggaggaggaggaggagga	17	0	24	0	0	0	3	0	0	0	3	0	14	0	13	0	10	0	0	0	10	3	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:150156360G>A	ENST00000325307.7	+	5	672	c.576G>A	c.(574-576)gaG>gaA	p.E192E	HMGB3_ENST00000448905.2_Silent_p.E192E	NM_005342.2	NP_005333.2	O15347	HMGB3_HUMAN	high mobility group box 3	192	Asp/Glu-rich (acidic).				DNA recombination|multicellular organismal development	chromosome|nucleus	DNA bending activity|double-stranded DNA binding	p.E192E(1)		endometrium(3)|large_intestine(2)|lung(2)|skin(1)	8	Acute lymphoblastic leukemia(192;6.56e-05)					aggaagaagaggaggaggagg	0.443													A	150156360	G	A	150156360	2	1	775	1	0	0	0	0	0	0	0	1	7282	991	35	2		2	HMGB3	23	150156360	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	9161400	150156360	5114200	43	57673											
OPN1MW2	728458	broad.mit.edu	37	chrX	153496073	153496073	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaggcagagaaggaagtgacGcgcatggtggtggtgatggt	11	7	19	4	2	0	3	0	2	0	1	0	5	0	4	0	6	0	2	0	6	3	0			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:153496073G>A	ENST00000369929.4	+	5	861	c.801G>A	c.(799-801)acG>acA	p.T267T	OPN1MW2_ENST00000488220.1_3'UTR	NM_001048181.2	NP_001041646.1			opsin 1 (cone pigments), medium-wave-sensitive 2											haematopoietic_and_lymphoid_tissue(1)|lung(1)|prostate(1)|stomach(2)|urinary_tract(1)	6	all_cancers(53;1.83e-16)|all_epithelial(53;2.73e-10)|all_lung(58;6.39e-07)|Lung NSC(58;8.37e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					AGGAAGTGACGCGCATGGTGG	0.582													A	153496073	G	A	153496073	2	1	775	1	0	0	0	0	0	0	0	1	10955	1074	38	1		1	OPN1MW2	23	153496073	Silent	SNP	G	TCGA-TQ-A8XE-01A-11D-A36O-08	3339713	153496073	1774487	44	57674											
TMLHE	55217	broad.mit.edu	37	chrX	154736769	154736769	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgccaccagttccttcaTgtttaagacaatgaaacact	12	12	5	12	0	1	2	1	1	0	1	3	2	3	2	4	0	2	2	4	0	3	4			TCGA-TQ-A8XE-01A-11D-A36O-08	TCGA-TQ-A8XE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4aaebadf-13d2-4865-8ab5-cc989d80a261	722d3df5-7254-44f0-bbe0-cf39dbd57866	g.chrX:154736769T>C	ENST00000334398.3	-	6	930	c.785A>G	c.(784-786)cAt>cGt	p.H262R	TMLHE-AS1_ENST00000452506.1_RNA|TMLHE_ENST00000369439.4_Missense_Mutation_p.H262R	NM_018196.3	NP_060666.1	Q9NVH6	TMLH_HUMAN	trimethyllysine hydroxylase, epsilon	262					carnitine biosynthetic process	mitochondrial matrix	iron ion binding|L-ascorbic acid binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|trimethyllysine dioxygenase activity			breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(53;1.86e-17)|all_epithelial(53;2.71e-11)|all_lung(58;1.84e-07)|Lung NSC(58;5.62e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Succinic acid(DB00139)|Vitamin C(DB00126)	AGTTCCTTCATGTTTAAGACA	0.363													C	154736769	T	C	154736769	3	2	775	1	0	0	0	0	1	0	0	0	16332	1464	51	3	632	3	TMLHE	23	154736769	Missense_Mutation	SNP	T	TCGA-TQ-A8XE-01A-11D-A36O-08	1240696	154736769	533791	45	57675											
SESN2	83667	broad.mit.edu	37	chr1	28599885	28599885	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggctttgagtctgcccGcgacgtggaggcgctgatgg	5	8	18	10	4	1	2	0	2	1	0	1	4	1	3	1	4	1	3	1	4	0	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:28599885G>A	ENST00000253063.3	+	6	1088	c.767G>A	c.(766-768)cGc>cAc	p.R256H		NM_031459.4	NP_113647.1	P58004	SESN2_HUMAN	sestrin 2	256					cell cycle arrest	cytoplasm|nucleus				cervix(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	27		Colorectal(325;3.46e-05)|Lung NSC(340;4.37e-05)|all_lung(284;4.76e-05)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)		OV - Ovarian serous cystadenocarcinoma(117;2.98e-22)|Colorectal(126;3.04e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00279)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00595)|READ - Rectum adenocarcinoma(331;0.0649)		GAGTCTGCCCGCGACGTGGAG	0.652													A	28599885	G	A	28599885	3	1	776	1	0	0	0	0	1	0	0	0	14218	1087	38	1	789	1	SESN2	1	28599885	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		28599885	220650736	1	57676											
GJB4	127534	broad.mit.edu	37	chr1	35227307	35227307	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcctctatatcttccaccGcctctacaaggattatgaca	10	13	4	14	1	3	1	0	1	3	0	5	2	5	2	4	1	1	0	4	1	5	6			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:35227307G>A	ENST00000339480.1	+	2	822	c.452G>A	c.(451-453)cGc>cAc	p.R151H	RP1-34M23.5_ENST00000542839.1_RNA	NM_153212.2	NP_694944.1	Q9NTQ9	CXB4_HUMAN	gap junction protein, beta 4, 30.3kDa	151					cell communication	connexon complex|integral to membrane	gap junction channel activity			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|ovary(2)|skin(1)	16		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.234)				ATCTTCCACCGCCTCTACAAG	0.597													A	35227307	G	A	35227307	3	1	776	1	0	0	0	0	1	0	0	0	6466	1087	38	1	454	1	GJB4	1	35227307	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	6627422	35227307	214023314	2	57677											
CLCA4	22802	broad.mit.edu	37	chr1	87031502	87031502	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	taggttgttgaattttgtaaCgaaaaaacccataatcaaga	17	12	7	5	1	1	2	1	1	0	1	1	3	1	2	1	1	2	3	1	1	8	7			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:87031502C>T	ENST00000370563.3	+	6	795	c.753C>T	c.(751-753)aaC>aaT	p.N251N	CLCA4_ENST00000263723.5_5'UTR	NM_012128.3	NP_036260.2	Q14CN2	CLCA4_HUMAN	chloride channel accessory 4	251						apical plasma membrane|extracellular region|integral to plasma membrane	chloride channel activity	p.N251N(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(7)|liver(2)|lung(21)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	44		Lung NSC(277;0.238)		all cancers(265;0.0202)|Epithelial(280;0.0404)		AATTTTGTAACGAAAAAACCC	0.269													T	87031502	C	T	87031502	2	4	776	1	0	0	0	0	0	0	0	1	3490	535	19	1		1	CLCA4	1	87031502	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	51804195	87031502	162219119	3	57678											
CRTC2	200186	broad.mit.edu	37	chr1	153924030	153924030	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggaggaggcaggcagagaGgggtggctgtgggagccctg	9	4	22	6	0	0	1	0	0	0	1	0	5	0	4	1	8	1	3	1	8	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:153924030G>C	ENST00000368633.1	-	11	1237	c.1110C>G	c.(1108-1110)ccC>ccG	p.P370P	CRTC2_ENST00000368630.3_Silent_p.P50P	NM_181715.2	NP_859066.1	Q53ET0	CRTC2_HUMAN	CREB regulated transcription coactivator 2	370	Ser-rich.				interspecies interaction between organisms|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	protein binding			NS(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)	27	all_lung(78;3.05e-32)|Lung NSC(65;3.74e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CAGGCAGAGAGGGGTGGCTGT	0.652													C	153924030	G	C	153924030	2	2	776	1	0	0	0	0	0	0	0	1	3931	987	35	4		4	CRTC2	1	153924030	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	66892528	153924030	95326591	4	57679											
HSD17B7	51478	broad.mit.edu	37	chr1	162769603	162769603	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catctggacatcatctcgcaGtgcaaggaaatctaatttca	13	11	7	10	1	5	0	2	0	3	0	6	2	5	2	0	2	1	2	0	2	3	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr1:162769603G>A	ENST00000367917.3	+	5	586	c.518G>A	c.(517-519)aGt>aAt	p.S173N	HSD17B7_ENST00000485405.1_3'UTR|HSD17B7_ENST00000254521.3_Missense_Mutation_p.S173N			P56937	DHB7_HUMAN	hydroxysteroid (17-beta) dehydrogenase 7	173					cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	3-keto sterol reductase activity|estradiol 17-beta-dehydrogenase activity	p.S173N(4)		endometrium(3)|kidney(2)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	9	all_hematologic(112;0.115)				NADH(DB00157)	TCATCTCGCAGTGCAAGGAAA	0.458													A	162769603	G	A	162769603	3	1	776	1	0	0	0	0	1	0	0	0	7443	1029	36	2	536	2	HSD17B7	1	162769603	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	8845573	162769603	86481018	5	57680											
SRD5A2	6716	broad.mit.edu	37	chr2	31754484	31754484	+	RNA	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tagccgatccattcaatgatCtcaccgaggaaattggctcc	11	10	8	12	2	2	1	2	1	1	0	5	4	4	2	4	2	1	1	4	2	3	3	rs121434253		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:31754484C>G	ENST00000405650.1	-	0	756				AL133247.2_ENST00000435713.1_RNA			P31213	S5A2_HUMAN	steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)						androgen biosynthetic process|cell differentiation|cell-cell signaling|male gonad development	endoplasmic reticulum membrane|integral to membrane|microsome	3-oxo-5-alpha-steroid 4-dehydrogenase activity|sterol 5-alpha reductase activity					Acute lymphoblastic leukemia(172;0.155)				Azelaic Acid(DB00548)|Dutasteride(DB01126)	ATTCAATGATCTCACCGAGGA	0.463													G	31754484	C	G	31754484	1	3	776	0	1	0	0	0	0	0	0	0	15235	912	32	4		4	SRD5A2	2	31754484	RNA	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		31754484	211444889	6	57681											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	776	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	177358628	209113112	34086261	7	57682											
COL6A3	1293	broad.mit.edu	37	chr2	238280790	238280790	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttctgcacttcatccttgctGgaatgggcgttcagcaggaa	8	12	11	10	1	3	0	2	0	1	0	4	2	4	2	1	3	3	4	1	3	2	4			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr2:238280790G>A	ENST00000295550.4	-	9	4322	c.3870C>T	c.(3868-3870)tcC>tcT	p.S1290S	COL6A3_ENST00000347401.3_Silent_p.S1089S|COL6A3_ENST00000472056.1_Silent_p.S683S|COL6A3_ENST00000346358.4_Silent_p.S1090S|COL6A3_ENST00000392003.2_Silent_p.S883S|COL6A3_ENST00000392004.3_Silent_p.S1084S|COL6A3_ENST00000409809.1_Silent_p.S1084S|COL6A3_ENST00000353578.4_Silent_p.S1084S	NM_004369.3	NP_004360.2	P12111	CO6A3_HUMAN	collagen, type VI, alpha 3	1290	Nonhelical region.|VWFA 7.				axon guidance|cell adhesion|muscle organ development	collagen type VI|extracellular space	serine-type endopeptidase inhibitor activity			breast(6)|central_nervous_system(7)|cervix(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(64)|lung(62)|ovary(14)|pancreas(2)|prostate(11)|skin(14)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	217		Breast(86;0.000301)|Renal(207;0.000966)|all_hematologic(139;0.067)|Ovarian(221;0.0694)|all_lung(227;0.0943)|Melanoma(123;0.203)		Epithelial(121;1.23e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.34e-10)|Kidney(56;5.71e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.51e-07)|BRCA - Breast invasive adenocarcinoma(100;0.00025)|Lung(119;0.0142)|LUSC - Lung squamous cell carcinoma(224;0.034)		CATCCTTGCTGGAATGGGCGT	0.607													A	238280790	G	A	238280790	2	1	776	1	0	0	0	0	0	0	0	1	3732	1335	47	2		2	COL6A3	2	238280790	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	29167678	238280790	4918583	8	57683											
SLC6A1	6529	broad.mit.edu	37	chr3	11068038	11068038	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggtccattgctgatgtggcGgcctcaggtcagtgcaacac	8	9	13	11	1	2	1	2	1	0	0	3	1	3	1	2	4	3	2	2	4	1	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:11068038G>A	ENST00000287766.4	+	10	1492	c.1071G>A	c.(1069-1071)gcG>gcA	p.A357A	SLC6A1_ENST00000536032.1_Silent_p.A179A	NM_003042.3	NP_003033.3	P30531	SC6A1_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 1	357					neurotransmitter secretion	integral to plasma membrane	gamma-aminobutyric acid:sodium symporter activity|neurotransmitter:sodium symporter activity			breast(1)|endometrium(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	26		Ovarian(110;0.0392)		OV - Ovarian serous cystadenocarcinoma(96;0.00099)	Cocaine(DB00907)|Tiagabine(DB00906)	CTGATGTGGCGGCCTCAGGTC	0.577													A	11068038	G	A	11068038	2	1	776	1	0	0	0	0	0	0	0	1	14767	1103	39	1		1	SLC6A1	3	11068038	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		11068038	186954392	9	57684											
PARP3	10039	broad.mit.edu	37	chr3	51978147	51978147	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccctgaaccagaccaacatcGagaacaacaacaacaagttc	18	4	5	14	1	0	3	0	1	0	2	2	4	0	3	3	0	6	1	3	0	7	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:51978147G>A	ENST00000417220.2	+	4	714	c.226G>A	c.(226-228)Gag>Aag	p.E76K	PARP3_ENST00000431474.1_Missense_Mutation_p.E76K|PARP3_ENST00000398755.3_Missense_Mutation_p.E83K			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	76					DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GACCAACATCGAGAACAACAA	0.602													A	51978147	G	A	51978147	3	1	776	1	0	0	0	0	1	0	0	0	11538	1059	37	1	257	1	PARP3	3	51978147	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	40910109	51978147	146044283	10	57685											
NAALADL2	254827	broad.mit.edu	37	chr3	175042013	175042013	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgttcttctgtatatcgAtccttgtgatttgccaaaga	9	16	9	7	1	2	2	0	1	2	1	4	3	3	2	2	1	1	2	2	1	3	6			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr3:175042013A>G	ENST00000454872.1	+	5	1117	c.989A>G	c.(988-990)gAt>gGt	p.D330G	NAALADL2_ENST00000473253.1_3'UTR	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2	330					proteolysis	integral to membrane	peptidase activity			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		CTGTATATCGATCCTTGTGAT	0.418													G	175042013	A	G	175042013	3	3	776	1	0	0	0	0	1	0	0	0	10206	333	12	3	1007	3	NAALADL2	3	175042013	Missense_Mutation	SNP	A	TCGA-VM-A8C8-01A-11D-A36O-08	123063866	175042013	22980417	11	57686											
EGF	1950	broad.mit.edu	37	chr4	110895896	110895896	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtgatttaaatgggaaaCgttccaaaataatcactaag	17	10	9	5	1	1	1	1	1	0	0	2	3	2	3	1	2	1	1	1	2	7	5			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:110895896C>T	ENST00000265171.5	+	12	2207	c.1762C>T	c.(1762-1764)Cgt>Tgt	p.R588C	EGF_ENST00000509793.1_Missense_Mutation_p.R546C|EGF_ENST00000503392.1_Missense_Mutation_p.R588C	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	p.R588C(1)		breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sulindac(DB00605)	AAATGGGAAACGTTCCAAAAT	0.358													T	110895896	C	T	110895896	3	4	776	1	0	0	0	0	1	0	0	0	5001	536	19	1	1808	1	EGF	4	110895896	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		110895896	80258380	12	57687											
STOX2	56977	broad.mit.edu	37	chr4	184930889	184930889	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aagagtggcccctgcgagacGaggacacgccagctacgatc	11	4	13	13	4	0	2	0	0	0	2	1	6	0	3	3	2	3	1	3	2	2	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr4:184930889G>A	ENST00000308497.4	+	3	2333	c.898G>A	c.(898-900)Gag>Aag	p.E300K	STOX2_ENST00000438269.1_Missense_Mutation_p.E300K	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2	300					embryo development|maternal placenta development					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		CCTGCGAGACGAGGACACGCC	0.512													A	184930889	G	A	184930889	3	1	776	1	0	0	0	0	1	0	0	0	15416	1059	37	1	908	1	STOX2	4	184930889	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	74034993	184930889	6223387	13	57688											
DMXL1	1657	broad.mit.edu	37	chr5	118503398	118503398	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcatataaatctattttacGtaaaaaagttttgggaatcg	16	14	7	4	2	1	0	0	0	1	0	2	1	1	1	0	1	2	3	0	1	9	8			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:118503398G>T	ENST00000311085.8	+	23	5317	c.5237G>T	c.(5236-5238)cGt>cTt	p.R1746L	DMXL1_ENST00000539542.1_Missense_Mutation_p.R1746L	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	1746										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		TCTATTTTACGTAAAAAAGTT	0.348													T	118503398	G	T	118503398	3	4	776	1	0	0	0	0	1	0	0	0	4633	1145	40	4	5327	4	DMXL1	5	118503398	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		118503398	62411862	14	57689											
PCDHGA11	56105	broad.mit.edu	37	chr5	140802769	140802769	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agccccctctctcggccaccGtcacgctcaccgtggctgtg	4	8	10	19	4	3	0	2	0	1	0	5	0	3	0	5	2	1	2	5	2	0	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:140802769G>A	ENST00000398587.2	+	1	2008	c.1975G>A	c.(1975-1977)Gtc>Atc	p.V659I	PCDHGA8_ENST00000398604.2_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA11_ENST00000518882.1_Intron|PCDHGB7_ENST00000398594.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB6_ENST00000520790.1_Intron	NM_018914.2|NM_032092.1	NP_061737.1|NP_114481.1												p.V659I(1)		breast(3)|endometrium(8)|kidney(3)|large_intestine(9)|lung(22)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCGGCCACCGTCACGCTCAC	0.672													A	140802769	G	A	140802769	3	1	776	1	0	0	0	0	1	0	0	0	11628	1145	40	1	1977	1	PCDHGA11	5	140802769	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	22299371	140802769	40112491	15	57690											
SLC34A1	6569	broad.mit.edu	37	chr5	176824066	176824066	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccagggagaagctgtccagCgctttccaggtgcgctggga	7	7	15	12	2	0	1	0	0	0	1	2	3	2	2	3	3	3	3	3	3	1	1	rs146962295		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr5:176824066C>T	ENST00000324417.5	+	12	1498	c.1407C>T	c.(1405-1407)agC>agT	p.S469S	SLC34A1_ENST00000513614.1_3'UTR	NM_003052.4	NP_003043.3	Q06495	NPT2A_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 1	469					phosphate ion homeostasis|response to cadmium ion|response to lead ion|response to mercury ion|sodium ion transport	brush border membrane|integral to plasma membrane	protein binding|sodium-dependent phosphate transmembrane transporter activity|symporter activity			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			AGCTGTCCAGCGCTTTCCAGG	0.627													T	176824066	C	T	176824066	2	4	776	1	0	0	0	0	0	0	0	1	14661	767	27	1		1	SLC34A1	5	176824066	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	36021297	176824066	4091194	16	57691											
PACSIN1	29993	broad.mit.edu	37	chr6	34495256	34495256	+	Frame_Shift_Del	DEL	A	A	-																															ccaagcgttggcgccagctcAtcgagaaaggtgctccccca																										TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:34495256delA	ENST00000538621.1	+	3	456	c.211delA	c.(211-213)atcfs	p.I71fs	PACSIN1_ENST00000244458.2_Frame_Shift_Del_p.I71fs|PACSIN1_ENST00000486120.1_3'UTR|PACSIN1_ENST00000374043.2_Frame_Shift_Del_p.I29fs	NM_001199583.2	NP_001186512.1	Q9BY11	PACN1_HUMAN	protein kinase C and casein kinase substrate in neurons 1	71	FCH.				endocytosis		protein kinase activity			endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(2)	13						GCGCCAGCTCATCGAGAAAGG	0.652											OREG0017366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	-	34495256	A	-	34495256	7	5	776	1	0	1	0	1	0	0	0	0	11450	217	8	0	217	0	PACSIN1	6	34495256	Frame_Shift_Del	DEL	A	TCGA-VM-A8C8-01A-11D-A36O-08		34495256	136619811	17	57692											
PLG	5340	broad.mit.edu	37	chr6	161143583	161143583	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accggcaccagaagaccccaGaaaactacccaaatgcgtat	16	4	7	14	2	0	3	0	0	0	3	0	3	0	3	5	1	3	2	5	1	6	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr6:161143583G>A	ENST00000308192.9	+	10	1303	c.1240G>A	c.(1240-1242)Gaa>Aaa	p.E414K		NM_000301.3	NP_000292.1	P00747	PLMN_HUMAN	plasminogen	414	Kringle 4.				extracellular matrix disassembly|fibrinolysis|negative regulation of cell proliferation|negative regulation of cell-substrate adhesion|negative regulation of fibrinolysis|platelet activation|platelet degranulation|positive regulation of fibrinolysis|proteolysis|tissue remodeling	extracellular space|extrinsic to external side of plasma membrane|platelet alpha granule lumen	apolipoprotein binding|cell surface binding|serine-type endopeptidase activity			NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)	59				OV - Ovarian serous cystadenocarcinoma(65;5.24e-17)|BRCA - Breast invasive adenocarcinoma(81;7.08e-06)	Aminocaproic Acid(DB00513)|Streptokinase(DB00086)|Tranexamic Acid(DB00302)|Urokinase(DB00013)	GAAGACCCCAGAAAACTACCC	0.473													A	161143583	G	A	161143583	3	1	776	1	0	0	0	0	1	0	0	0	12163	943	33	2	1282	2	PLG	6	161143583	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	126648327	161143583	9971484	18	57693											
CLEC5A	23601	broad.mit.edu	37	chr7	141635639	141635639	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctggcgtgttgacaattGccaatgtggatccttttcct	6	16	9	10	1	1	1	0	1	1	0	4	2	3	2	3	2	1	1	3	2	2	4			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr7:141635639G>A	ENST00000546910.1	-	5	516	c.320C>T	c.(319-321)gCa>gTa	p.A107V	CLEC5A_ENST00000439991.1_Intron|CLEC5A_ENST00000551012.2_Missense_Mutation_p.A84V|CLEC5A_ENST00000438351.1_Missense_Mutation_p.A84V|CLEC5A_ENST00000470595.1_Intron	NM_013252.2	NP_037384.1	Q9NY25	CLC5A_HUMAN	C-type lectin domain family 5, member A	107	C-type lectin.				anti-apoptosis|cellular defense response|innate immune response|interspecies interaction between organisms|osteoblast development	cell surface|integral to plasma membrane	sugar binding|viral receptor activity			endometrium(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	10	Melanoma(164;0.0171)					GTTGACAATTGCCAATGTGGA	0.443													A	141635639	G	A	141635639	3	1	776	1	0	0	0	0	1	0	0	0	3550	1319	46	2	258	2	CLEC5A	7	141635639	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		141635639	17503024	19	57694											
PREX2	80243	broad.mit.edu	37	chr8	68956773	68956773	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacatcggtacctttttcgTggccggatcaacacggaggt	8	10	13	10	4	1	0	1	0	0	0	3	3	1	3	2	6	2	1	2	6	2	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:68956773T>C	ENST00000288368.4	+	8	1168	c.891T>C	c.(889-891)cgT>cgC	p.R297R	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	297	PH.				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						ACCTTTTTCGTGGCCGGATCA	0.393													C	68956773	T	C	68956773	2	2	776	1	0	0	0	0	0	0	0	1	12563	1683	59	3		3	PREX2	8	68956773	Silent	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		68956773	77407249	20	57695											
RHPN1	114822	broad.mit.edu	37	chr8	144462859	144462859	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gtggacctgcttcgggctgtGatctcccagacgctgcagcg	5	9	14	13	3	1	2	0	1	1	1	3	3	1	3	2	2	3	4	2	2	0	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr8:144462859G>C	ENST00000289013.6	+	11	1418	c.1317G>C	c.(1315-1317)gtG>gtC	p.V439V		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	464	BRO1.				signal transduction	intracellular				endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			TTCGGGCTGTGATCTCCCAGA	0.677													C	144462859	G	C	144462859	2	2	776	1	0	0	0	0	0	0	0	1	13439	1277	45	4		4	RHPN1	8	144462859	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	75506086	144462859	1901163	21	57696											
TLN1	7094	broad.mit.edu	37	chr9	35706484	35706484	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggcttcagcccgggcagcaTtggccagcggctcaatgaga	9	6	14	12	2	2	1	2	1	0	1	2	2	2	1	2	4	3	4	2	4	1	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:35706484T>C	ENST00000314888.9	-	39	5506	c.5153A>G	c.(5152-5154)aAt>aGt	p.N1718S	TLN1_ENST00000464379.1_Intron|TLN1_ENST00000540444.1_Missense_Mutation_p.N1702S	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	1718	Interaction with SYNM.			N -> H (in Ref. 1; AAD13152 and 2; AAF23322).	axon guidance|cell adhesion|cell-cell junction assembly|cellular component movement|cytoskeletal anchoring at plasma membrane|muscle contraction|platelet activation|platelet degranulation	actin cytoskeleton|centrosome|cytosol|extracellular region|focal adhesion|intracellular membrane-bounded organelle|ruffle membrane	actin binding|insulin receptor binding|LIM domain binding|structural constituent of cytoskeleton|vinculin binding			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			CCGGGCAGCATTGGCCAGCGG	0.592													C	35706484	T	C	35706484	3	2	776	1	0	0	0	0	1	0	0	0	16047	1493	52	3	2548	3	TLN1	9	35706484	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		35706484	105506947	22	57697											
WNK2	65268	broad.mit.edu	37	chr9	96055256	96055256	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagcgtggctggcgacttcGtgaagaaggccaccgccttc	7	7	14	13	4	0	2	0	1	0	1	2	3	0	2	3	3	1	2	3	3	2	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96055256G>A	ENST00000297954.4	+	23	5620	c.5620G>A	c.(5620-5622)Gtg>Atg	p.V1874M	WNK2_ENST00000356055.3_Missense_Mutation_p.V201M|WNK2_ENST00000395475.2_3'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.V1486M|WNK2_ENST00000427277.2_Missense_Mutation_p.V1449M|WNK2_ENST00000395477.2_Missense_Mutation_p.V1837M	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	1874					intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGGCGACTTCGTGAAGAAGGC	0.706													A	96055256	G	A	96055256	3	1	776	1	0	0	0	0	1	0	0	0	17480	1145	40	1	5595	1	WNK2	9	96055256	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	60348772	96055256	45158175	23	57698											
PTPDC1	138639	broad.mit.edu	37	chr9	96859724	96859724	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggacagctcctctgtgtaagGgaatttactcagtttctaac	10	13	9	9	0	3	0	1	0	2	0	4	2	4	2	1	2	3	3	1	2	4	5			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:96859724G>A	ENST00000375360.3	+	7	1054	c.714G>A	c.(712-714)agG>agA	p.R238R	PTPDC1_ENST00000288976.3_Silent_p.R290R	NM_001253830.1|NM_177995.2	NP_001240759.1|NP_818931.1	A2A3K4	PTPC1_HUMAN	protein tyrosine phosphatase domain containing 1	238							protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	32						TCTGTGTAAGGGAATTTACTC	0.443													A	96859724	G	A	96859724	2	1	776	1	0	0	0	0	0	0	0	1	12859	1223	43	2		2	PTPDC1	9	96859724	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	804468	96859724	44353707	24	57699											
UCK1	83549	broad.mit.edu	37	chr9	134404363	134404363	+	Frame_Shift_Del	DEL	C	C	-																															ctcctcgaaggccggcttcaCgaaggtggtgtactgcgtca																										TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr9:134404363delC	ENST00000372215.4	-	5	664	c.571delG	c.(571-573)gtgfs	p.V191fs	UCK1_ENST00000459858.1_5'UTR|UCK1_ENST00000372210.3_Frame_Shift_Del_p.V182fs|UCK1_ENST00000372208.3_Intron|UCK1_ENST00000372211.3_Frame_Shift_Del_p.V196fs	NM_001261450.1|NM_001261451.1|NM_031432.2	NP_001248379.1|NP_001248380.1|NP_113620.1	Q9HA47	UCK1_HUMAN	uridine-cytidine kinase 1	191					pyrimidine base metabolic process|pyrimidine nucleoside salvage	cytosol	ATP binding|phosphotransferase activity, alcohol group as acceptor|uridine kinase activity			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|skin(1)|upper_aerodigestive_tract(1)	6				OV - Ovarian serous cystadenocarcinoma(145;2.34e-05)|Epithelial(140;0.000219)		GCCGGCTTCACGAAGGTGGTG	0.617													-	134404363	C	-	134404363	7	5	776	1	0	1	0	1	0	0	0	0	17025	536	19	0	274	0	UCK1	9	134404363	Frame_Shift_Del	DEL	C	TCGA-VM-A8C8-01A-11D-A36O-08	37544639	134404363	6809068	25	57700											
MUC5B	727897	broad.mit.edu	37	chr11	1267980	1267980	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accaccacaaccagggccacCggctctgtggccaccccctc	8	4	8	21	1	1	0	0	0	1	0	2	0	1	0	8	3	1	1	8	3	1	0			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:1267980C>A	ENST00000447027.1	+	31	9937	c.9879C>A	c.(9877-9879)acC>acA	p.T3293T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000529681.1_Silent_p.T3290T			Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3290	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398).	cell adhesion	extracellular region	extracellular matrix structural constituent|protein binding			cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCAGGGCCACCGGCTCTGTGG	0.637													A	1267980	C	A	1267980	2	1	776	1	0	0	0	0	0	0	0	1	10055	639	23	4		4	MUC5B	11	1267980	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		1267980	133738536	26	57701											
USP47	55031	broad.mit.edu	37	chr11	11959846	11959846	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tgttgatctaaaggcagaatCtgtagctgctcctataactg	11	13	9	8	0	2	2	0	1	2	1	3	2	3	2	1	1	3	5	1	1	6	5			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:11959846C>T	ENST00000339865.5	+	17	2679	c.1916C>T	c.(1915-1917)tCt>tTt	p.S639F	USP47_ENST00000399455.2_Missense_Mutation_p.S727F|USP47_ENST00000527733.1_Missense_Mutation_p.S707F|USP47_ENST00000539466.1_5'UTR	NM_017944.3	NP_060414.3	Q96K76	UBP47_HUMAN	ubiquitin specific peptidase 47	727					base-excision repair|cellular response to UV|monoubiquitinated protein deubiquitination|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of G2/M transition of mitotic cell cycle|negative regulation of transcription, DNA-dependent|positive regulation of cell growth|response to drug|ubiquitin-dependent protein catabolic process	cytoplasm|SCF ubiquitin ligase complex	ubiquitin thiolesterase activity|ubiquitin-specific protease activity|WD40-repeat domain binding			breast(4)|endometrium(7)|kidney(2)|large_intestine(8)|liver(2)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	46				Epithelial(150;0.000339)		AAGGCAGAATCTGTAGCTGCT	0.333													T	11959846	C	T	11959846	3	4	776	1	0	0	0	0	1	0	0	0	17180	913	32	2	1982	2	USP47	11	11959846	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	10691866	11959846	123046670	27	57702											
EHF	26298	broad.mit.edu	37	chr11	34680178	34680178	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggaagaccgatctgagggcGtcttcaggttcttgaaatca	10	10	13	8	2	5	3	2	2	3	1	5	5	5	4	1	3	0	1	1	3	2	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:34680178G>A	ENST00000257831.3	+	8	827	c.706G>A	c.(706-708)Gtc>Atc	p.V236I	EHF_ENST00000531794.1_Missense_Mutation_p.V258I|EHF_ENST00000533754.1_Missense_Mutation_p.V236I|EHF_ENST00000530286.1_Missense_Mutation_p.V236I|EHF_ENST00000450654.2_Missense_Mutation_p.V213I	NM_012153.5	NP_036285.2	Q9NZC4	EHF_HUMAN	ets homologous factor	236					cell proliferation|epithelial cell differentiation|multicellular organismal development|positive regulation of transcription, DNA-dependent		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity		NFIA/EHF(2)	autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|lung(8)|upper_aerodigestive_tract(1)	17		all_hematologic(20;0.117)	Epithelial(1;0.055)|all cancers(1;0.137)|STAD - Stomach adenocarcinoma(6;0.235)			ATCTGAGGGCGTCTTCAGGTT	0.488													A	34680178	G	A	34680178	3	1	776	1	0	0	0	0	1	0	0	0	5020	1145	40	1	732	1	EHF	11	34680178	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	22720332	34680178	100326338	28	57703											
DAK	26007	broad.mit.edu	37	chr11	61110297	61110297	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaactgggcatcatagccgaCgctaccgtccgctccctggg	7	7	12	15	4	1	0	1	0	0	0	3	2	3	0	4	2	3	3	4	2	3	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:61110297C>T	ENST00000394900.3	+	10	1075	c.846C>T	c.(844-846)gaC>gaT	p.D282D		NM_015533.3	NP_056348.2	Q3LXA3	DHAK_HUMAN	dihydroxyacetone kinase 2 homolog (S. cerevisiae)	282	DhaK.				glycerol metabolic process	cytosol	ATP binding|FAD-AMP lyase (cyclizing) activity|glycerone kinase activity|metal ion binding			NS(1)|breast(3)|endometrium(3)|large_intestine(5)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	23						TCATAGCCGACGCTACCGTCC	0.587													T	61110297	C	T	61110297	2	4	776	1	0	0	0	0	0	0	0	1	4262	535	19	1		1	DAK	11	61110297	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	26430119	61110297	73896219	29	57704											
WDR74	54663	broad.mit.edu	37	chr11	62601766	62601766	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	accttgccgaaggtcaatttCtgccagctgcccatgagtgt	8	11	10	12	1	2	1	1	1	1	0	2	2	2	1	4	1	4	1	4	1	2	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr11:62601766C>T	ENST00000525239.1	-	9	1294	c.757G>A	c.(757-759)Gaa>Aaa	p.E253K	WDR74_ENST00000529106.1_Missense_Mutation_p.E253K|WDR74_ENST00000278856.4_Missense_Mutation_p.E253K|WDR74_ENST00000311713.7_Missense_Mutation_p.E253K|WDR74_ENST00000525752.1_Missense_Mutation_p.E196K			Q6RFH5	WDR74_HUMAN	WD repeat domain 74	253						nucleolus				kidney(2)|large_intestine(1)|liver(1)|lung(3)|ovary(1)	8						AGGTCAATTTCTGCCAGCTGC	0.567													T	62601766	C	T	62601766	3	4	776	1	0	0	0	0	1	0	0	0	17426	922	32	2	416	2	WDR74	11	62601766	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	1491469	62601766	72404750	30	57705											
PTPN11	5781	broad.mit.edu	37	chr12	112924324	112924324	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aataccactttcggacctggCcggaccacggcgtgcccagc	8	6	11	16	4	0	0	0	0	0	0	1	2	0	2	5	4	3	0	5	4	2	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr12:112924324C>T	ENST00000351677.2	+	11	1468	c.1270C>T	c.(1270-1272)Ccg>Tcg	p.P424S	PTPN11_ENST00000392597.1_Missense_Mutation_p.P424S	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	428	Tyrosine-protein phosphatase.				axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TCGGACCTGGCCGGACCACGG	0.562			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				T	112924324	C	T	112924324	3	4	776	1	0	0	0	0	1	0	0	0	12866	739	26	2	1312	2	PTPN11	12	112924324	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08		112924324	20927571	31	57706											
MYCBP2	23077	broad.mit.edu	37	chr13	77844139	77844139	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcttacctgagcatacccTaaccaagactttttttcttt	9	18	3	11	0	2	2	0	1	2	1	2	2	2	2	3	0	4	1	3	0	4	8			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr13:77844139T>G	ENST00000407578.2	-	7	1514	c.1248A>C	c.(1246-1248)ttA>ttC	p.L416F	MYCBP2_ENST00000360084.5_5'UTR|MYCBP2_ENST00000544440.2_Missense_Mutation_p.L378F|MYCBP2_ENST00000357337.6_Missense_Mutation_p.L378F	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	378					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		GAGCATACCCTAACCAAGACT	0.299													G	77844139	T	G	77844139	3	3	776	1	0	0	0	0	1	0	0	0	10094	1519	53	5	13096	5	MYCBP2	13	77844139	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		77844139	37325739	32	57707											
INO80	54617	broad.mit.edu	37	chr15	41308307	41308307	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagtaggtctatcatcctGgtcatctgggagtagataag	10	12	11	8	0	4	1	2	0	2	1	6	2	6	2	2	3	0	2	2	3	4	4			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:41308307G>A	ENST00000361937.3	-	27	3805	c.3381C>T	c.(3379-3381)acC>acT	p.T1127T	INO80_ENST00000401393.3_Silent_p.T1127T			Q9ULG1	INO80_HUMAN	INO80 complex subunit	1127	Assembles INO80 complex module consisting of conserved components INO80B, INO80C, ACTR5, RVBL1, RVBL2.|Helicase C-terminal.				cell division|cellular response to ionizing radiation|cellular response to UV|chromatin remodeling|double-strand break repair via homologous recombination|mitotic sister chromatid segregation|positive regulation of cell growth|positive regulation of DNA replication involved in S phase|positive regulation of transcription from RNA polymerase II promoter|regulation of G1/S transition of mitotic cell cycle|spindle assembly|UV-damage excision repair	Ino80 complex|microtubule	actin binding|alpha-tubulin binding|ATP binding|ATPase activity|DNA binding|DNA helicase activity			NS(1)|breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CTATCATCCTGGTCATCTGGG	0.473													A	41308307	G	A	41308307	2	1	776	1	0	0	0	0	0	0	0	1	7804	1335	47	2		2	INO80	15	41308307	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		41308307	61223085	33	57708											
SPPL2A	84888	broad.mit.edu	37	chr15	51028304	51028304	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgagtattcatacctgtctTcatttcgaaacacagcccaa	12	13	5	11	1	3	1	2	1	1	0	4	2	3	1	2	0	3	1	2	0	4	6			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr15:51028304T>A	ENST00000261854.5	-	8	1200	c.926A>T	c.(925-927)gAa>gTa	p.E309V		NM_032802.3	NP_116191.2	Q8TCT8	PSL2_HUMAN	signal peptide peptidase like 2A	309						integral to membrane	aspartic-type endopeptidase activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15				all cancers(107;0.000712)|GBM - Glioblastoma multiforme(94;0.00314)		ATACCTGTCTTCATTTCGAAA	0.353													A	51028304	T	A	51028304	3	1	776	1	0	0	0	0	1	0	0	0	15184	1783	62	5	668	5	SPPL2A	15	51028304	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	9719997	51028304	51503088	34	57709											
PPL	5493	broad.mit.edu	37	chr16	4945354	4945354	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gggcaccacctgctggcctcGcttctgcagcccctgcacca	5	7	10	19	1	1	0	0	0	1	0	2	0	1	0	6	2	4	5	6	2	0	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:4945354G>A	ENST00000345988.2	-	11	1239	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*	PPL_ENST00000590782.2_Nonsense_Mutation_p.R382*	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	384					keratinization	cytoskeleton|desmosome|mitochondrion|nucleus	protein binding|structural constituent of cytoskeleton			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						TGCTGGCCTCGCTTCTGCAGC	0.647													A	4945354	G	A	4945354	4	1	776	1	0	0	0	0	0	1	0	0	12416	1095	38	1	4168	1	PPL	16	4945354	Nonsense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		4945354	85409399	35	57710											
CHD9	80205	broad.mit.edu	37	chr16	53190447	53190447	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ccaacaaggacattcacactCtatgcatcaaaataaaagct	18	8	4	11	0	3	0	2	0	1	0	3	1	3	1	1	1	3	2	1	1	7	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr16:53190447C>G	ENST00000566029.1	+	2	655	c.446C>G	c.(445-447)tCt>tGt	p.S149C	CHD9_ENST00000398510.3_Missense_Mutation_p.S149C|CHD9_ENST00000447540.1_Missense_Mutation_p.S149C|CHD9_ENST00000564845.1_Missense_Mutation_p.S149C			Q3L8U1	CHD9_HUMAN	chromodomain helicase DNA binding protein 9	149					cellular lipid metabolic process|chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleoplasm	ATP binding|DNA binding|helicase activity|protein binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(21)|lung(32)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	78		all_cancers(37;0.0212)				CATTCACACTCTATGCATCAA	0.418													G	53190447	C	G	53190447	3	3	776	1	0	0	0	0	1	0	0	0	3362	913	32	4	448	4	CHD9	16	53190447	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	48245093	53190447	37164306	36	57711											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	776	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		7578190	73617020	37	57712											
COX10	1352	broad.mit.edu	37	chr17	13980254	13980254	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	actagagccagactcagtaaTtgaagactcaatagatgtag	16	9	9	7	0	2	5	2	1	0	4	2	5	2	5	1	0	1	2	1	0	6	5			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:13980254T>C	ENST00000261643.3	+	3	457	c.380T>C	c.(379-381)aTt>aCt	p.I127T	COX10_ENST00000429152.2_Missense_Mutation_p.I127T|COX10_ENST00000537334.1_Intron|COX10_ENST00000536205.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	127					heme a biosynthetic process|heme O biosynthetic process|respiratory chain complex IV assembly	integral to membrane|mitochondrial membrane	protoheme IX farnesyltransferase activity			cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		GACTCAGTAATTGAAGACTCA	0.423													C	13980254	T	C	13980254	3	2	776	1	0	0	0	0	1	0	0	0	3793	1493	52	3	390	3	COX10	17	13980254	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	6402064	13980254	67214956	38	57713											
UBE2Z	65264	broad.mit.edu	37	chr17	47000214	47000214	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttgttttccagaggggTgatggagaagtcctttctgg	6	14	14	7	0	1	3	0	1	1	2	3	4	3	3	2	4	1	2	2	4	1	4			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:47000214T>C	ENST00000360943.5	+	6	944	c.809T>C	c.(808-810)gTg>gCg	p.V270A		NM_023079.4	NP_075567.2	Q9H832	UBE2Z_HUMAN	ubiquitin-conjugating enzyme E2Z	270					apoptosis	cytoplasm|nucleus	ATP binding|ubiquitin-protein ligase activity										TCCAGAGGGGTGATGGAGAAG	0.473													C	47000214	T	C	47000214	3	2	776	1	0	0	0	0	1	0	0	0	16980	1696	59	3	831	3	UBE2Z	17	47000214	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	33019960	47000214	34194996	39	57714											
H3F3B	3021	broad.mit.edu	37	chr17	73774698	73774698	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aagctctctctccccgtatcCggcgagccaactggatgtct	7	10	9	15	3	3	0	0	0	3	0	6	2	4	1	4	2	3	2	4	2	3	1			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr17:73774698C>T	ENST00000254810.4	-	4	521	c.389G>A	c.(388-390)cGg>cAg	p.R130Q	H3F3B_ENST00000589599.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000591890.1_3'UTR|H3F3B_ENST00000587560.1_Missense_Mutation_p.R130Q|H3F3B_ENST00000593254.1_5'UTR|H3F3B_ENST00000592643.1_Missense_Mutation_p.G106R|H3F3B_ENST00000586607.1_Missense_Mutation_p.R130Q	NM_005324.3	NP_005315.1	P84243	H33_HUMAN	H3 histone, family 3B (H3.3B)	130					blood coagulation|nucleosome assembly	nucleoplasm|nucleosome	DNA binding			large_intestine(1)|lung(4)|ovary(2)|skin(1)	8	all_cancers(13;1.5e-07)		all cancers(21;2.61e-06)|Epithelial(20;7.39e-06)|BRCA - Breast invasive adenocarcinoma(9;0.00194)|LUSC - Lung squamous cell carcinoma(166;0.154)			TCCCCGTATCCGGCGAGCCAA	0.443													T	73774698	C	T	73774698	3	4	776	1	0	0	0	0	1	0	0	0	6989	652	23	1	25	1	H3F3B	17	73774698	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	26774484	73774698	7420512	40	57715											
CLEC4G	339390	broad.mit.edu	37	chr19	7794297	7794297	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atccagccgtccttctcgctGtcacacggtgcgtcgttcca	5	11	9	16	5	2	0	1	0	1	0	7	0	5	0	4	1	2	2	4	1	0	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:7794297G>A	ENST00000328853.5	-	9	905	c.837C>T	c.(835-837)gaC>gaT	p.D279D		NM_001244856.1|NM_198492.3	NP_001231785.1|NP_940894.1	Q6UXB4	CLC4G_HUMAN	C-type lectin domain family 4, member G	279	C-type lectin.					integral to membrane	protein binding|sugar binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(1)|lung(1)	6						CCTTCTCGCTGTCACACGGTG	0.627													A	7794297	G	A	7794297	2	1	776	1	0	0	0	0	0	0	0	1	3548	1368	48	2		2	CLEC4G	19	7794297	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		7794297	51334686	41	57716											
COL5A3	50509	broad.mit.edu	37	chr19	10079133	10079133	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctttctcaccagcttctccCggggggccaatgagaccgat	7	9	10	15	2	2	1	1	1	2	1	4	3	2	1	5	3	1	1	5	3	1	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:10079133C>T	ENST00000264828.3	-	59	4327	c.4242G>A	c.(4240-4242)ccG>ccA	p.P1414P		NM_015719.3	NP_056534.2	P25940	CO5A3_HUMAN	collagen, type V, alpha 3	1414	Triple-helical region.				collagen fibril organization|skin development	collagen type V	collagen binding|extracellular matrix structural constituent			NS(2)|breast(3)|central_nervous_system(2)|endometrium(11)|kidney(23)|large_intestine(12)|liver(2)|lung(35)|ovary(8)|prostate(5)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	116			Epithelial(33;7.11e-05)			CAGCTTCTCCCGGGGGGCCAA	0.592													T	10079133	C	T	10079133	2	4	776	1	0	0	0	0	0	0	0	1	3729	639	23	1		1	COL5A3	19	10079133	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	2284836	10079133	49049850	42	57717											
CD97	976	broad.mit.edu	37	chr19	14492346	14492346	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctccaaccatgggaggccGcgtctttctcggtaagtact	8	10	11	12	3	2	0	0	0	2	0	4	1	3	1	3	3	3	3	3	3	3	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:14492346G>A	ENST00000242786.5	+	1	91	c.11G>A	c.(10-12)cGc>cAc	p.R4H	CD97_ENST00000358600.3_Missense_Mutation_p.R4H|CD97_ENST00000587728.1_Intron|CD97_ENST00000357355.3_Missense_Mutation_p.R4H	NM_078481.3	NP_510966.1	P48960	CD97_HUMAN	CD97 molecule	4					cell adhesion|cell-cell signaling|cellular component movement|immune response|inflammatory response|neuropeptide signaling pathway	extracellular space|integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein binding			breast(2)|endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	30						ATGGGAGGCCGCGTCTTTCTC	0.672													A	14492346	G	A	14492346	3	1	776	1	0	0	0	0	1	0	0	0	3079	1087	38	1	13	1	CD97	19	14492346	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	4413213	14492346	44636637	43	57718											
NWD1	284434	broad.mit.edu	37	chr19	16905360	16905360	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gaagatgagtccctcctcgcCgcaggtagcgtttagctctc	7	10	11	13	3	1	2	0	1	1	1	5	3	3	2	3	1	2	4	3	1	3	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr19:16905360C>T	ENST00000524140.2	+	15	3718	c.3300C>T	c.(3298-3300)gcC>gcT	p.A1100A	NWD1_ENST00000379808.3_Silent_p.A1100A|NWD1_ENST00000523826.1_Silent_p.A894A|NWD1_ENST00000339803.6_Silent_p.A965A|NWD1_ENST00000552788.1_Silent_p.A1100A|NWD1_ENST00000549814.1_Silent_p.A1100A	NM_001007525.3	NP_001007526.3	Q149M9	NWD1_HUMAN	NACHT and WD repeat domain containing 1	1100							ATP binding			NS(3)|breast(2)|cervix(1)|endometrium(8)|large_intestine(17)|lung(18)|ovary(2)|pancreas(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						CCCTCCTCGCCGCAGGTAGCG	0.547													T	16905360	C	T	16905360	2	4	776	1	0	0	0	0	0	0	0	1	10857	639	23	1		1	NWD1	19	16905360	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	2413014	16905360	42223623	44	57719											
CST4	1472	broad.mit.edu	37	chr20	23667836	23667836	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aagtaattcacccccccaaaGgtctgcacacaggagaaaac	16	5	7	13	0	2	1	1	0	1	1	2	2	2	1	3	2	2	2	3	2	5	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:23667836G>A	ENST00000217423.3	-	2	301	c.231C>T	c.(229-231)acC>acT	p.T77T		NM_001899.2	NP_001890.1	P01036	CYTS_HUMAN	cystatin S	77			T -> N (in a breast cancer sample; somatic mutation).			extracellular region	cysteine-type endopeptidase inhibitor activity			breast(1)|endometrium(1)|large_intestine(2)|lung(10)|skin(1)|upper_aerodigestive_tract(1)	16	Lung NSC(19;0.0789)|Colorectal(13;0.0993)|all_lung(19;0.169)					CCCCCCCAAAGGTCTGCACAC	0.562													A	23667836	G	A	23667836	2	1	776	1	0	0	0	0	0	0	0	1	4007	987	35	2		2	CST4	20	23667836	Silent	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		23667836	39357684	45	57720											
DNMT3B	1789	broad.mit.edu	37	chr20	31387129	31387129	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcattgtttgatggcatcgCgacaggtgagttcggggaac	8	11	15	7	3	1	2	1	2	0	0	3	4	1	3	0	4	1	3	0	4	1	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr20:31387129C>T	ENST00000328111.2	+	16	2075	c.1754C>T	c.(1753-1755)gCg>gTg	p.A585V	DNMT3B_ENST00000344505.4_Missense_Mutation_p.A565V|DNMT3B_ENST00000353855.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000348286.2_Missense_Mutation_p.A565V|DNMT3B_ENST00000456297.2_Missense_Mutation_p.A489V|DNMT3B_ENST00000443239.3_Missense_Mutation_p.A523V|DNMT3B_ENST00000375623.4_3'UTR|DNMT3B_ENST00000201963.3_Missense_Mutation_p.A577V	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	585			A -> V (in ICF).		negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GATGGCATCGCGACAGGTGAG	0.577													T	31387129	C	T	31387129	3	4	776	1	0	0	0	0	1	0	0	0	4716	768	27	1	1852	1	DNMT3B	20	31387129	Missense_Mutation	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	7719293	31387129	31638391	46	57721											
TMPRSS15	5651	broad.mit.edu	37	chr21	19666729	19666729	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctccaacaatctttggggTgatgtcttgagctgccagtt	7	14	10	10	0	2	2	0	2	2	0	4	2	4	2	3	2	3	2	3	2	2	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chr21:19666729T>C	ENST00000284885.3	-	21	2377	c.2344A>G	c.(2344-2346)Acc>Gcc	p.T782A		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	782					proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						ATCTTTGGGGTGATGTCTTGA	0.458													C	19666729	T	C	19666729	3	2	776	1	0	0	0	0	1	0	0	0	16346	1696	59	3	735	3	TMPRSS15	21	19666729	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08		19666729	28463166	47	57722											
TSPAN7	7102	broad.mit.edu	37	chrX	38546915	38546915	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	acggccaatcagtatgagatGgtgtaaggagaaggtaggtg	13	8	16	4	1	1	2	1	1	0	2	1	4	1	2	1	5	0	3	1	5	5	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:38546915G>A	ENST00000378482.2	+	7	921	c.744G>A	c.(742-744)atG>atA	p.M248I	TSPAN7_ENST00000286824.6_Missense_Mutation_p.M265I|TSPAN7_ENST00000545599.1_Missense_Mutation_p.M222I|TM4SF2_ENST00000465127.1_Missense_Mutation_p.M278I|TSPAN7_ENST00000422612.2_Missense_Mutation_p.M274I	NM_004615.3	NP_004606.2	P41732	TSN7_HUMAN	tetraspanin 7	248					interspecies interaction between organisms	integral to plasma membrane				haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(1)|urinary_tract(1)	11						AGTATGAGATGGTGTAAGGAG	0.498													A	38546915	G	A	38546915	3	1	776	1	0	0	0	0	1	0	0	0	16753	1348	47	2	770	2	TSPAN7	23	38546915	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08		38546915	116723645	48	57723											
PORCN	64840	broad.mit.edu	37	chrX	48369767	48369767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cttccagctgcacatggtttGggtcgtgctgctcagcctcc	4	12	11	14	1	1	0	1	0	0	0	4	0	3	0	3	2	5	5	3	2	0	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:48369767G>T	ENST00000367574.4	+	3	513	c.8G>T	c.(7-9)tGg>tTg	p.W3L	PORCN_ENST00000355092.3_Missense_Mutation_p.W74L|PORCN_ENST00000326194.6_Missense_Mutation_p.W74L|PORCN_ENST00000359882.4_Missense_Mutation_p.W74L|PORCN_ENST00000537758.1_Missense_Mutation_p.W74L|PORCN_ENST00000355961.4_Missense_Mutation_p.W74L|PORCN_ENST00000361988.3_Missense_Mutation_p.W74L	NM_001282167.1	NP_001269096.1	Q9H237	PORCN_HUMAN	porcupine homolog (Drosophila)	74					Wnt receptor signaling pathway	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						CACATGGTTTGGGTCGTGCTG	0.567											OREG0019764	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48369767	G	T	48369767	3	4	776	1	0	0	0	0	1	0	0	0	12335	1357	47	4	227	4	PORCN	23	48369767	Missense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	9822852	48369767	106900793	49	57724											
AKAP4	8852	broad.mit.edu	37	chrX	49961552	49961552	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaagtgtaccttagactggTctttcttctcagtgtccttg	6	18	8	9	0	3	1	1	0	3	1	5	1	4	1	2	1	1	1	2	1	3	6			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:49961552T>C	ENST00000376056.2	-	4	389	c.239A>G	c.(238-240)gAc>gGc	p.D80G	AKAP4_ENST00000376058.2_Missense_Mutation_p.D80G|AKAP4_ENST00000358526.2_Missense_Mutation_p.D89G|AKAP4_ENST00000376064.3_Missense_Mutation_p.D80G|AKAP4_ENST00000481402.1_5'UTR			Q5JQC9	AKAP4_HUMAN	A kinase (PRKA) anchor protein 4	89					cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding			NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					CTTAGACTGGTCTTTCTTCTC	0.438													C	49961552	T	C	49961552	3	2	776	1	0	0	0	0	1	0	0	0	453	1667	58	3	2310	3	AKAP4	23	49961552	Missense_Mutation	SNP	T	TCGA-VM-A8C8-01A-11D-A36O-08	1591785	49961552	105309008	50	57725											
ATRX	546	broad.mit.edu	37	chrX	76938788	76938788	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctttacacgtggggatcttcGaagatcagattcctctaaaa	12	12	8	9	2	3	2	1	0	2	2	5	4	4	3	1	2	1	0	1	2	4	5			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:76938788G>A	ENST00000373344.5	-	9	2174	c.1960C>T	c.(1960-1962)Cga>Tga	p.R654*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R616*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	654					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)	GGGGATCTTCGAAGATCAGAT	0.393			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76938788	G	A	76938788	4	1	776	1	0	0	0	0	0	1	0	0	1213	1066	37	1	5626	1	ATRX	23	76938788	Nonsense_Mutation	SNP	G	TCGA-VM-A8C8-01A-11D-A36O-08	26977236	76938788	78331772	51	57726											
SLITRK2	84631	broad.mit.edu	37	chrX	144904070	144904070	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaaaaggaaaacgtactgAatatcaactgtgagaacaaa	22	6	8	5	1	1	3	1	2	0	2	1	5	1	4	0	1	4	1	0	1	11	2			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:144904070A>G	ENST00000370490.1	+	1	4382	c.127A>G	c.(127-129)Aat>Gat	p.N43D	SLITRK2_ENST00000428560.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000434188.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000447897.2_Missense_Mutation_p.N43D|SLITRK2_ENST00000413937.2_Missense_Mutation_p.N43D			Q9H156	SLIK2_HUMAN	SLIT and NTRK-like family, member 2	43						integral to membrane				NS(1)|breast(3)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(17)|lung(40)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	86	Acute lymphoblastic leukemia(192;6.56e-05)					AAACGTACTGAATATCAACTG	0.453													G	144904070	A	G	144904070	3	3	776	1	0	0	0	0	1	0	0	0	14837	246	9	3	129	3	SLITRK2	23	144904070	Missense_Mutation	SNP	A	TCGA-VM-A8C8-01A-11D-A36O-08	67965282	144904070	10366490	52	57727											
NSDHL	50814	broad.mit.edu	37	chrX	152034434	152034434	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cgccctcatggcattttcggCccaagggacccgcagttggt	6	9	12	14	3	1	0	1	0	0	0	2	1	1	1	3	4	0	3	3	4	1	3			TCGA-VM-A8C8-01A-11D-A36O-08	TCGA-VM-A8C8-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2c3ccc86-7b36-460b-a757-841b9f765c74	1574abba-d04f-4c98-b8be-8a8c3182ab01	g.chrX:152034434C>T	ENST00000370274.3	+	6	809	c.615C>T	c.(613-615)ggC>ggT	p.G205G	NSDHL_ENST00000440023.1_Silent_p.G205G	NM_015922.2	NP_057006.1	Q15738	NSDHL_HUMAN	NAD(P) dependent steroid dehydrogenase-like	205			G -> S (in CHILD).		cholesterol biosynthetic process	endoplasmic reticulum membrane|integral to membrane	3-beta-hydroxy-delta5-steroid dehydrogenase activity|binding|C-3 sterol dehydrogenase (C-4 sterol decarboxylase) activity|sterol-4-alpha-carboxylate 3-dehydrogenase (decarboxylating) activity			NS(1)|breast(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(5)	15	Acute lymphoblastic leukemia(192;6.56e-05)				NADH(DB00157)	GCATTTTCGGCCCAAGGGACC	0.582													T	152034434	C	T	152034434	2	4	776	1	0	0	0	0	0	0	0	1	10746	726	26	2		2	NSDHL	23	152034434	Silent	SNP	C	TCGA-VM-A8C8-01A-11D-A36O-08	7130364	152034434	3236126	53	57728											
PRAMEF1	65121	broad.mit.edu	37	chr1	12854386	12854386	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agtcattgaaaataatatacCtgaatagtattcaagagctg	17	12	7	5	0	2	3	2	2	0	1	2	3	2	3	1	0	2	2	1	0	9	7	rs1063767		TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:12854386C>T	ENST00000332296.7	+	3	713	c.610C>T	c.(610-612)Ctg>Ttg	p.L204L		NM_023013.2	NP_075389.1	O95521	PRAM1_HUMAN	PRAME family member 1	204			L -> M (in dbSNP:rs1063767).							cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	35	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;4.88e-06)|Kidney(185;4.89e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|COAD - Colon adenocarcinoma(227;0.000241)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		AATAATATACCTGAATAGTAT	0.393													T	12854386	C	T	12854386	2	4	777	1	0	0	0	0	0	0	0	1	12507	680	24	2		2	PRAMEF1	1	12854386	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		12854386	236396235	1	57729											
SORT1	6272	broad.mit.edu	37	chr1	109878960	109878960	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaaagtgatcatggtctggaTagaattatctgaatgggaag	15	11	12	3	0	3	3	1	2	2	1	3	5	3	5	0	3	0	0	0	3	7	2			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr1:109878960T>C	ENST00000256637.6	-	11	1331	c.1273A>G	c.(1273-1275)Atc>Gtc	p.I425V	SORT1_ENST00000538502.1_Missense_Mutation_p.I288V	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	425					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ATGGTCTGGATAGAATTATCT	0.428													C	109878960	T	C	109878960	3	2	777	1	0	0	0	0	1	0	0	0	15029	1406	49	3	1262	3	SORT1	1	109878960	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08	97024574	109878960	139371661	2	57730											
PARP9	83666	broad.mit.edu	37	chr3	122274172	122274172	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccctggacaatctggagggtCaggttgttcacgaccattgc	8	10	12	11	1	3	0	2	0	1	0	3	3	3	2	2	4	1	2	2	4	1	3			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:122274172C>T	ENST00000462315.1	-	4	1139	c.846G>A	c.(844-846)ctG>ctA	p.L282L	PARP9_ENST00000477522.2_Silent_p.L282L|PARP9_ENST00000471785.1_Silent_p.L282L|PARP9_ENST00000492382.1_Intron|PARP9_ENST00000360356.2_Silent_p.L317L	NM_001146106.1	NP_001139578.1	Q8IXQ6	PARP9_HUMAN	poly (ADP-ribose) polymerase family, member 9	317	Macro 1.				cell migration	cytosol|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			endometrium(3)|kidney(2)|large_intestine(9)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(3)	34				GBM - Glioblastoma multiforme(114;0.0519)		TCTGGAGGGTCAGGTTGTTCA	0.453													T	122274172	C	T	122274172	2	4	777	1	0	0	0	0	0	0	0	1	11542	813	29	2		2	PARP9	3	122274172	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		122274172	75748258	3	57731											
PIK3CA	5290	broad.mit.edu	37	chr3	178938891	178938891	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caagtcgaggcaatggaaaaGctcattaacttaactgacat	16	9	8	8	1	1	1	1	1	0	0	2	3	1	2	0	2	3	2	0	2	6	2			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr3:178938891G>T	ENST00000263967.3	+	14	2290	c.2133G>T	c.(2131-2133)aaG>aaT	p.K711N		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	711					epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			CAATGGAAAAGCTCATTAACT	0.433		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178938891	G	T	178938891	3	4	777	1	0	0	0	0	1	0	0	0	11990	962	34	4	2183	4	PIK3CA	3	178938891	Missense_Mutation	SNP	G	TCGA-VM-A8C9-01A-11D-A36O-08	56664719	178938891	19083539	4	57732											
PCDH10	57575	broad.mit.edu	37	chr4	134072440	134072440	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggtggcccttttcagcgTgactgaccgcgactcagagg	6	10	14	11	3	2	3	2	2	0	1	2	4	2	3	2	3	1	0	2	3	0	2			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr4:134072440T>C	ENST00000264360.5	+	1	1971	c.1145T>C	c.(1144-1146)gTg>gCg	p.V382A		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		CTTTTCAGCGTGACTGACCGC	0.582													C	134072440	T	C	134072440	3	2	777	1	0	0	0	0	1	0	0	0	11583	1696	59	3	1147	3	PCDH10	4	134072440	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		134072440	57081836	5	57733											
SLC17A4	10050	broad.mit.edu	37	chr6	25776865	25776865	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtttgttgttggatgtatcTgcattatccttggaggtcta	6	18	11	6	1	2	0	0	0	2	0	3	2	3	2	1	3	1	5	1	3	3	7			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:25776865T>A	ENST00000377905.4	+	9	1149	c.1030T>A	c.(1030-1032)Tgc>Agc	p.C344S	SLC17A4_ENST00000397076.2_Missense_Mutation_p.C114S|SLC17A4_ENST00000439485.2_Missense_Mutation_p.C114S	NM_005495.2	NP_005486.1	Q9Y2C5	S17A4_HUMAN	solute carrier family 17, member 4	344					phosphate metabolic process	integral to plasma membrane|membrane fraction	sodium:phosphate symporter activity			breast(4)|endometrium(1)|kidney(4)|large_intestine(3)|lung(21)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGGATGTATCTGCATTATCCT	0.507													A	25776865	T	A	25776865	3	1	777	1	0	0	0	0	1	0	0	0	14513	1580	55	5	1060	5	SLC17A4	6	25776865	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		25776865	145338202	6	57734											
GFRAL	389400	broad.mit.edu	37	chr6	55216162	55216162	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctcagcaaatggaaatcCgtgtgatctgaaacagtgcc	12	10	10	9	1	2	2	1	2	1	0	3	3	3	3	2	1	4	2	2	1	3	1			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr6:55216162C>T	ENST00000340465.2	+	5	568	c.482C>T	c.(481-483)cCg>cTg	p.P161L		NM_207410.2	NP_997293.2	Q6UXV0	GFRAL_HUMAN	GDNF family receptor alpha like	161						integral to membrane	receptor activity			NS(1)|breast(1)|endometrium(2)|kidney(5)|large_intestine(2)|liver(1)|lung(31)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	48	Lung NSC(77;0.0875)|Renal(3;0.122)		LUSC - Lung squamous cell carcinoma(124;0.23)			AATGGAAATCCGTGTGATCTG	0.448													T	55216162	C	T	55216162	3	4	777	1	0	0	0	0	1	0	0	0	6407	652	23	1	500	1	GFRAL	6	55216162	Missense_Mutation	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08	29439297	55216162	115898905	7	57735											
A2ML1	144568	broad.mit.edu	37	chr12	9001419	9001419	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggactttcctcagcccctcaTtgacccaatgccccaagggc	8	8	8	17	0	2	1	2	1	0	0	3	2	3	2	6	2	2	0	6	2	2	2	rs150488553	by1000genomes	TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr12:9001419T>C	ENST00000299698.7	+	16	2117	c.1937T>C	c.(1936-1938)aTt>aCt	p.I646T	A2ML1_ENST00000539547.1_Missense_Mutation_p.I155T	NM_001282424.1|NM_144670.4	NP_001269353.1|NP_653271	B3KVV6	B3KVV6_HUMAN	alpha-2-macroglobulin-like 1	490						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						CAGCCCCTCATTGACCCAATG	0.527													C	9001419	T	C	9001419	3	2	777	1	0	0	0	0	1	0	0	0	5	1493	52	3	1999	3	A2ML1	12	9001419	Missense_Mutation	SNP	T	TCGA-VM-A8C9-01A-11D-A36O-08		9001419	124850476	8	57736											
XPO4	64328	broad.mit.edu	37	chr13	21361632	21361632	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	catcttaccttaagaaagtgCcgtgttgctagaaaaagtgg	13	11	10	7	1	1	2	0	0	1	2	1	2	1	2	2	1	3	2	2	1	6	4			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr13:21361632C>T	ENST00000400602.2	-	21	3188	c.3153G>A	c.(3151-3153)cgG>cgA	p.R1051R	XPO4_ENST00000255305.6_Silent_p.R1051R	NM_022459.4	NP_071904.4	Q9C0E2	XPO4_HUMAN	exportin 4	1051					protein transport	cytoplasm|nucleus	protein binding			breast(1)|endometrium(10)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	41		all_cancers(29;5.05e-24)|all_epithelial(30;5.56e-20)|all_lung(29;2.38e-16)|Lung SC(185;0.0262)|Hepatocellular(188;0.244)		all cancers(112;0.000521)|Epithelial(112;0.000892)|OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Lung(94;0.0189)|LUSC - Lung squamous cell carcinoma(192;0.0548)		TAAGAAAGTGCCGTGTTGCTA	0.458													T	21361632	C	T	21361632	2	4	777	1	0	0	0	0	0	0	0	1	17548	726	26	2		2	XPO4	13	21361632	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		21361632	93808246	9	57737											
NEURL2	140825	broad.mit.edu	37	chr20	44517457	44517457	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tggagcccatcaatggccagCcggtgcaccatgctcctttg	7	9	11	14	1	1	0	1	0	0	0	2	1	2	1	5	3	4	2	5	3	1	1			TCGA-VM-A8C9-01A-11D-A36O-08	TCGA-VM-A8C9-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	47654d66-7743-498f-b2e3-872d9100560a	8b9b4b1e-ae8d-4578-b7b6-7688526fc3fd	g.chr20:44517457C>T	ENST00000372518.4	-	2	1093	c.798G>A	c.(796-798)cgG>cgA	p.R266R		NM_001278535.1|NM_080749.2	NP_001265464.1|NP_542787.1	Q9BR09	NEUL2_HUMAN	neuralized E3 ubiquitin protein ligase 2	266	SOCS box.				intracellular signal transduction					large_intestine(1)|lung(2)	3		Myeloproliferative disorder(115;0.0122)				CAATGGCCAGCCGGTGCACCA	0.552													T	44517457	C	T	44517457	2	4	777	1	0	0	0	0	0	0	0	1	10422	726	26	2		2	NEURL2	20	44517457	Silent	SNP	C	TCGA-VM-A8C9-01A-11D-A36O-08		44517457	18508063	10	57738											
MEGF6	1953	broad.mit.edu	37	chr1	3428675	3428675	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggcacactgggccagccctgCggcacattcgtccacatctg	7	7	11	16	2	1	0	0	0	1	0	3	0	2	0	3	3	2	2	3	3	0	1	rs115175505	by1000genomes	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:3428675C>T	ENST00000356575.4	-	8	1097	c.871G>A	c.(871-873)Gca>Aca	p.A291T	MEGF6_ENST00000294599.4_Missense_Mutation_p.A186T	NM_001409.3	NP_001400.3	O75095	MEGF6_HUMAN	multiple EGF-like-domains 6	291	EGF-like 5; calcium-binding (Potential).					extracellular region	calcium ion binding			cervix(2)|endometrium(3)|large_intestine(3)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_cancers(77;0.00681)|all_epithelial(69;0.00301)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.105)	all_epithelial(116;7.41e-22)|all_lung(118;8.3e-09)|Lung NSC(185;3.55e-06)|Breast(487;0.000659)|Renal(390;0.00121)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Lung SC(97;0.0262)|Ovarian(437;0.0308)|Medulloblastoma(700;0.211)		Epithelial(90;3.78e-37)|OV - Ovarian serous cystadenocarcinoma(86;6.86e-22)|GBM - Glioblastoma multiforme(42;1.96e-12)|Colorectal(212;6.15e-05)|COAD - Colon adenocarcinoma(227;0.000241)|Kidney(185;0.000448)|BRCA - Breast invasive adenocarcinoma(365;0.000779)|KIRC - Kidney renal clear cell carcinoma(229;0.00645)|STAD - Stomach adenocarcinoma(132;0.00669)|Lung(427;0.213)		GCCAGCCCTGCGGCACATTCG	0.652													T	3428675	C	T	3428675	3	4	778	1	0	0	0	0	1	0	0	0	9537	768	27	1	3874	1	MEGF6	1	3428675	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		3428675	245821946	1	57739											
CNKSR1	10256	broad.mit.edu	37	chr1	26511516	26511517	+	Frame_Shift_Ins	INS	-	-	T																															tgctacaggcctggcgacccINSggctgagccgccggcgggtg																										TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:26511516_26511517insT	ENST00000531191.1	+	13	1380_1381	c.373_374insT	c.(373-375)cggfs	p.R125fs	CNKSR1_ENST00000374253.5_Frame_Shift_Ins_p.R390fs|CNKSR1_ENST00000361530.6_Frame_Shift_Ins_p.R383fs			Q969H4	CNKR1_HUMAN	connector enhancer of kinase suppressor of Ras 1	390	CRIC.				Rho protein signal transduction|transmembrane receptor protein tyrosine kinase signaling pathway	cell cortex|cell-cell junction	protein binding, bridging			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	28		Colorectal(325;3.46e-05)|all_lung(284;0.000116)|Lung NSC(340;0.000154)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0133)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0298)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.72e-26)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.00072)|BRCA - Breast invasive adenocarcinoma(304;0.000959)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.00823)|READ - Rectum adenocarcinoma(331;0.0649)		CCTGGCGACCCGGCTGAGCCGC	0.693													T	26511517	-	T	26511516	7	5	778	1	0	1	1	0	0	0	0	0	3637	643	23	0	1201	0	CNKSR1	1	26511516	Frame_Shift_Ins	INS	-	TCGA-VM-A8CA-01A-11D-A36O-08	23082841	26511516	222739105	2	57740											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			C	115256529	T	C	115256529	3	2	778	1	0	0	0	0	1	0	0	0	10716	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08	88745013	115256529	133994092	3	57741											
VTCN1	79679	broad.mit.edu	37	chr1	117699297	117699297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttgcacgtttttcagccgcAaagaggcattgccaactatc	10	11	9	11	2	1	1	1	0	0	1	2	1	1	1	2	1	4	5	2	1	3	5			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:117699297A>G	ENST00000369458.3	-	3	422	c.344T>C	c.(343-345)tTg>tCg	p.L115S	VTCN1_ENST00000359008.4_Missense_Mutation_p.L118S|VTCN1_ENST00000463461.1_5'UTR|VTCN1_ENST00000328189.3_Intron|VTCN1_ENST00000539893.1_Missense_Mutation_p.L20S	NM_024626.3	NP_078902.2	Q7Z7D3	VTCN1_HUMAN	V-set domain containing T cell activation inhibitor 1	115	Ig-like V-type 1.					integral to membrane|plasma membrane				large_intestine(7)|lung(4)|upper_aerodigestive_tract(1)	12	Lung SC(450;0.225)	all_cancers(81;6.05e-06)|all_epithelial(167;5.59e-07)|all_lung(203;2.85e-06)|Lung NSC(69;2e-05)		Lung(183;0.0664)|LUSC - Lung squamous cell carcinoma(189;0.214)|Colorectal(144;0.23)		TTTCAGCCGCAAAGAGGCATT	0.453													G	117699297	A	G	117699297	3	3	778	1	0	0	0	0	1	0	0	0	17336	131	5	3	516	3	VTCN1	1	117699297	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08	2442768	117699297	131551324	4	57742											
FLG	2312	broad.mit.edu	37	chr1	152275810	152275810	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcctgcttctcctggaccccGctgattcaccctggccggac	4	9	10	18	2	2	1	1	1	1	0	3	3	2	3	6	3	1	2	6	3	0	2	rs150496930		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:152275810G>A	ENST00000368799.1	-	3	11587	c.11552C>T	c.(11551-11553)gCg>gTg	p.A3851V	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3851	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGGACCCCGCTGATTCACC	0.602									Ichthyosis				A	152275810	G	A	152275810	3	1	778	1	0	0	0	0	1	0	0	0	5971	1087	38	1	637	1	FLG	1	152275810	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08	34576513	152275810	96974811	5	57743											
NPHS2	7827	broad.mit.edu	37	chr1	179526176	179526176	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtacctttgcatcttgggCgatgctcttcctctctagaa	8	14	8	11	1	3	1	0	0	3	1	5	2	4	1	2	1	3	3	2	1	4	5			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr1:179526176C>T	ENST00000367615.4	-	5	792	c.724G>A	c.(724-726)Gcc>Acc	p.A242T	NPHS2_ENST00000367616.4_Intron	NM_014625.2	NP_055440.1	Q9NP85	PODO_HUMAN	nephrosis 2, idiopathic, steroid-resistant (podocin)	242					excretion	integral to plasma membrane	protein binding			NS(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	20						GCATCTTGGGCGATGCTCTTC	0.368													T	179526176	C	T	179526176	3	4	778	1	0	0	0	0	1	0	0	0	10659	768	27	1	443	1	NPHS2	1	179526176	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	27250366	179526176	69724445	6	57744											
IL1RL2	8808	broad.mit.edu	37	chr2	102851427	102851427	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtcattgtggtccccgaatcGctgggctttggcctgttgaa	5	13	13	10	2	1	1	1	1	0	0	3	2	2	1	3	3	0	3	3	3	2	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:102851427G>A	ENST00000264257.2	+	11	1494	c.1368G>A	c.(1366-1368)tcG>tcA	p.S456S	IL1RL2_ENST00000539491.1_Silent_p.S456S|IL1RL2_ENST00000481806.1_3'UTR|IL1RL2_ENST00000441515.2_Silent_p.S338S	NM_003854.2	NP_003845.2	Q9HB29	ILRL2_HUMAN	interleukin 1 receptor-like 2	456	TIR.				cellular defense response|innate immune response	integral to plasma membrane	interleukin-1, Type I, activating receptor activity			breast(1)|cervix(1)|endometrium(5)|large_intestine(6)|liver(2)|lung(8)|ovary(2)|prostate(1)	26						TCCCCGAATCGCTGGGCTTTG	0.493													A	102851427	G	A	102851427	2	1	778	1	0	0	0	0	0	0	0	1	7722	1074	38	1		1	IL1RL2	2	102851427	Silent	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		102851427	140347946	7	57745											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	778	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	106261685	209113112	34086261	8	57746											
UGT1A10	54575	broad.mit.edu	37	chr2	234545184	234545184	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctcatggctcgcgcagggTggaccagccccgttccttta	5	10	11	15	3	1	0	1	0	1	0	4	1	2	1	4	3	1	3	4	3	1	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:234545184T>G	ENST00000344644.5	+	1	85	c.16T>G	c.(16-18)Tgg>Ggg	p.W6G	UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000373445.1_Missense_Mutation_p.W6G	NM_019075.2	NP_061948.1														endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(2)|skin(3)	32		Breast(86;0.000766)|all_lung(227;0.00271)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0334)|Lung NSC(271;0.0461)|Lung SC(224;0.128)		Epithelial(121;1.96e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000468)|Lung(119;0.00381)|LUSC - Lung squamous cell carcinoma(224;0.008)		TCGCGCAGGGTGGACCAGCCC	0.567													G	234545184	T	G	234545184	3	3	778	1	0	0	0	0	1	0	0	0	17047	1696	59	5	18	5	UGT1A10	2	234545184	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08	25432072	234545184	8654189	9	57747											
AGAP1	116987	broad.mit.edu	37	chr2	236659029	236659029	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctgctaacccgagggtcatCgatgacgccagggcgaggaa	10	6	14	11	4	2	1	1	1	1	0	3	5	2	2	2	3	2	1	2	3	2	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr2:236659029C>T	ENST00000304032.8	+	6	1150	c.570C>T	c.(568-570)atC>atT	p.I190I	AGAP1_ENST00000428334.2_Silent_p.I29I|AGAP1_ENST00000336665.5_Silent_p.I190I|AGAP1_ENST00000409538.1_Silent_p.I455I|AGAP1_ENST00000409457.1_Silent_p.I190I	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1		Small GTPase-like.				protein transport|regulation of ARF GTPase activity|small GTPase mediated signal transduction	cytoplasm	ARF GTPase activator activity|GTP binding|zinc ion binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						CGAGGGTCATCGATGACGCCA	0.522													T	236659029	C	T	236659029	2	4	778	1	0	0	0	0	0	0	0	1	366	874	31	1		1	AGAP1	2	236659029	Silent	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	2113845	236659029	6540344	10	57748											
PCDH10	57575	broad.mit.edu	37	chr4	134072866	134072866	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tatcaactctgagaacggctActtgtacgccctgcgctcct	8	11	8	14	3	2	1	1	1	1	1	3	2	3	1	2	1	5	3	2	1	5	4			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr4:134072866A>G	ENST00000264360.5	+	1	2397	c.1571A>G	c.(1570-1572)tAc>tGc	p.Y524C		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 5.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	p.Y524C(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAGAACGGCTACTTGTACGCC	0.587													G	134072866	A	G	134072866	3	3	778	1	0	0	0	0	1	0	0	0	11583	391	14	3	1573	3	PCDH10	4	134072866	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08		134072866	57081410	11	57749											
SIRT5	23408	broad.mit.edu	37	chr6	13612077	13612077	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagcccttgcctgtcatGaaaatgaaactgtttcttaa	12	13	7	9	0	2	3	1	3	1	0	2	3	2	3	2	0	3	1	2	0	5	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:13612077G>T	ENST00000606117.1	+	10	1209	c.913G>T	c.(913-915)Gaa>Taa	p.E305*	SIRT5_ENST00000359782.3_Nonsense_Mutation_p.E287*|SIRT5_ENST00000397350.2_Nonsense_Mutation_p.E197*	NM_012241.4	NP_036373.1	Q9NXA8	SIRT5_HUMAN	sirtuin 5	305	Deacetylase sirtuin-type.		E -> G (in dbSNP:rs34162626).		chromatin silencing|protein ADP-ribosylation|protein deacetylation	mitochondrial intermembrane space|mitochondrial matrix	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in linear amides|NAD+ ADP-ribosyltransferase activity|NAD+ binding|zinc ion binding			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	11	Breast(50;0.00669)|Ovarian(93;0.0634)	all_hematologic(90;0.117)	Epithelial(50;0.176)		Suramin(DB04786)	TGCCTGTCATGAAAATGAAAC	0.433													T	13612077	G	T	13612077	4	4	778	1	0	0	0	0	0	1	0	0	14435	1291	45	4	990	4	SIRT5	6	13612077	Nonsense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		13612077	157502990	12	57750											
COL12A1	1303	broad.mit.edu	37	chr6	75898204	75898204	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gaaaacatggttcagtgaagGtgtggaggcaatttgtttga	12	12	14	3	0	1	2	1	2	0	0	1	4	1	3	0	4	1	3	0	4	4	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr6:75898204G>T	ENST00000322507.8	-	8	1180	c.871C>A	c.(871-873)Cct>Act	p.P291T	COL12A1_ENST00000345356.6_Intron|COL12A1_ENST00000483888.2_Missense_Mutation_p.P291T|COL12A1_ENST00000416123.2_Missense_Mutation_p.P291T	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	291	VWFA 1.				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength			breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TTCAGTGAAGGTGTGGAGGCA	0.403													T	75898204	G	T	75898204	3	4	778	1	0	0	0	0	1	0	0	0	3700	1261	44	4	8556	4	COL12A1	6	75898204	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08	62286127	75898204	95216863	13	57751											
SLC4A2	6522	broad.mit.edu	37	chr7	150767818	150767818	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggtcccacgcccctaggctgCgtggagttcctctcccgccc	3	8	11	19	3	1	0	0	0	1	0	4	1	3	1	6	3	1	2	6	3	1	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr7:150767818C>T	ENST00000485713.1	+	12	2609	c.1569C>T	c.(1567-1569)tgC>tgT	p.C523C	SLC4A2_ENST00000413384.2_Silent_p.C523C|SLC4A2_ENST00000310317.5_Silent_p.C441C|SLC4A2_ENST00000392826.2_Silent_p.C514C|SLC4A2_ENST00000461735.1_Silent_p.C509C	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	523					bicarbonate transport	integral to membrane|membrane fraction	inorganic anion exchanger activity			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCCTAGGCTGCGTGGAGTTCC	0.667													T	150767818	C	T	150767818	2	4	778	1	0	0	0	0	0	0	0	1	14748	776	27	1		1	SLC4A2	7	150767818	Silent	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		150767818	8370845	14	57752											
RORB	6096	broad.mit.edu	37	chr9	77280504	77280504	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggaggaatgcaaatgttcaaAgccttaggtaagtttccctt	12	12	10	7	0	1	0	1	0	0	0	2	2	2	2	2	3	2	4	2	3	5	5			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr9:77280504A>G	ENST00000376896.3	+	7	1605	c.993A>G	c.(991-993)aaA>aaG	p.K331K	RORB_ENST00000396204.2_Silent_p.K342K	NM_006914.3	NP_008845.2	Q92753	RORB_HUMAN	RAR-related orphan receptor B		Ligand-binding (Potential).				eye photoreceptor cell development|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|visual perception	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|zinc ion binding			breast(2)|large_intestine(4)|lung(1)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	12						AAATGTTCAAAGCCTTAGGTA	0.378													G	77280504	A	G	77280504	2	3	778	1	0	0	0	0	0	0	0	1	13620	69	3	3		3	RORB	9	77280504	Silent	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08		77280504	63932927	15	57753											
ARHGAP12	94134	broad.mit.edu	37	chr10	32150341	32150341	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctcttgatcccctggattTtggaaatctcctttgctgat	7	16	7	11	0	2	2	0	2	2	0	4	4	3	4	4	2	1	1	4	2	1	4			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr10:32150341T>C	ENST00000375250.5	-	4	1171	c.930A>G	c.(928-930)caA>caG	p.Q310Q	ARHGAP12_ENST00000311380.4_Silent_p.Q310Q|ARHGAP12_ENST00000375245.4_Silent_p.Q310Q|ARHGAP12_ENST00000344936.2_Silent_p.Q310Q|ARHGAP12_ENST00000396144.4_Silent_p.Q310Q	NM_001270696.1|NM_001270698.1	NP_001257625.1|NP_001257627.1	Q8IWW6	RHG12_HUMAN	Rho GTPase activating protein 12	310					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity			NS(1)|breast(3)|endometrium(2)|kidney(1)|large_intestine(11)|lung(10)|skin(1)|urinary_tract(2)	31		Prostate(175;0.0199)				CCCCTGGATTTTGGAAATCTC	0.408													C	32150341	T	C	32150341	2	2	778	1	0	0	0	0	0	0	0	1	868	1838	64	3		3	ARHGAP12	10	32150341	Silent	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08		32150341	103384406	16	57754											
OR52A5	390054	broad.mit.edu	37	chr11	5153260	5153260	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccctaggattgcaaaggcaaCaaataggccatatatcttgt	14	10	8	9	0	1	0	0	0	1	0	1	1	1	1	2	3	2	2	2	3	7	6			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:5153260C>T	ENST00000307388.1	-	1	612	c.613G>A	c.(613-615)Gtt>Att	p.V205I		NM_001005160.2	NP_001005160.1	Q9H2C5	O52A5_HUMAN	olfactory receptor, family 52, subfamily A, member 5	205					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(18)|skin(3)	35		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GCAAAGGCAACAAATAGGCCA	0.423													T	5153260	C	T	5153260	3	4	778	1	0	0	0	0	1	0	0	0	11186	478	17	2	340	2	OR52A5	11	5153260	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		5153260	129853256	17	57755											
LRP5	4041	broad.mit.edu	37	chr11	68204389	68204389	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaaccagttccggtgtgcgAgcggccagtgtgtcctcatc	6	9	12	14	3	1	0	1	0	0	0	4	1	3	0	5	2	3	1	5	2	1	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr11:68204389A>G	ENST00000294304.7	+	19	4139	c.4033A>G	c.(4033-4035)Agc>Ggc	p.S1345G		NM_002335.2	NP_002326.2	O75197	LRP5_HUMAN	low density lipoprotein receptor-related protein 5	1345	LDL-receptor class A 3.				adipose tissue development|bone marrow development|bone morphogenesis|canonical Wnt receptor signaling pathway|cholesterol homeostasis|endocytosis|glucose catabolic process|negative regulation of osteoblast differentiation|negative regulation of protein serine/threonine kinase activity|positive regulation of fat cell differentiation|positive regulation of mesenchymal cell proliferation|positive regulation of mitosis|positive regulation of transcription from RNA polymerase II promoter|regulation of blood pressure|regulation of canonical Wnt receptor signaling pathway|retina morphogenesis in camera-type eye|retinal blood vessel morphogenesis|Wnt receptor signaling pathway involved in dorsal/ventral axis specification	endoplasmic reticulum|integral to membrane|plasma membrane|receptor complex	protein binding|receptor activity			autonomic_ganglia(1)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(24)|ovary(5)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CCGGTGTGCGAGCGGCCAGTG	0.642													G	68204389	A	G	68204389	3	3	778	1	0	0	0	0	1	0	0	0	9030	304	11	3	4107	3	LRP5	11	68204389	Missense_Mutation	SNP	A	TCGA-VM-A8CA-01A-11D-A36O-08	63051129	68204389	66802127	18	57756											
PHB2	11331	broad.mit.edu	37	chr12	7077605	7077605	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gggtgatcagctgtgaggcaTtgaacttggccaccacactc	9	9	12	11	0	1	3	1	3	0	0	2	3	1	3	2	3	2	2	2	3	1	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:7077605T>C	ENST00000535923.1	-	4	727	c.446A>G	c.(445-447)aAt>aGt	p.N149S	PHB2_ENST00000399433.2_Missense_Mutation_p.N149S|PHB2_ENST00000542912.1_Missense_Mutation_p.N149S|PHB2_ENST00000546111.1_Intron|PHB2_ENST00000440277.1_Missense_Mutation_p.N149S	NM_001144831.1	NP_001138303.1	Q99623	PHB2_HUMAN	prohibitin 2	149					negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial inner membrane|nucleus	estrogen receptor binding|receptor activity			ovary(2)|pancreas(1)	3						CTGTGAGGCATTGAACTTGGC	0.572													C	7077605	T	C	7077605	3	2	778	1	0	0	0	0	1	0	0	0	11892	1493	52	3	477	3	PHB2	12	7077605	Missense_Mutation	SNP	T	TCGA-VM-A8CA-01A-11D-A36O-08		7077605	126774290	19	57757											
DDX23	9416	broad.mit.edu	37	chr12	49227280	49227280	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctccagcacatcaatcaaaCgcccaggggtagcaatcaca	14	6	7	14	1	4	0	3	0	1	0	5	0	4	0	2	2	3	3	2	2	4	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:49227280C>T	ENST00000308025.3	-	13	1662	c.1583G>A	c.(1582-1584)cGt>cAt	p.R528H		NM_004818.2	NP_004809.2	Q9BUQ8	DDX23_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 23	528	Helicase ATP-binding.					catalytic step 2 spliceosome|nucleoplasm|U5 snRNP	ATP binding|ATP-dependent RNA helicase activity|nucleic acid binding|protein binding			NS(1)|cervix(1)|kidney(4)|large_intestine(6)|lung(17)|ovary(1)|prostate(1)|skin(2)|urinary_tract(3)	36						ATCAATCAAACGCCCAGGGGT	0.498													T	49227280	C	T	49227280	3	4	778	1	0	0	0	0	1	0	0	0	4384	536	19	1	899	1	DDX23	12	49227280	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	42149675	49227280	84624615	20	57758											
KRT84	3890	broad.mit.edu	37	chr12	52777396	52777396	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttcttgaagccctctaggaCatcctgcaggtggttcctct	6	13	9	13	0	3	1	0	1	3	0	5	2	5	2	3	3	2	2	3	3	2	4			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr12:52777396C>T	ENST00000257951.3	-	2	799	c.733G>A	c.(733-735)Gtc>Atc	p.V245I	RP3-416H24.4_ENST00000547174.1_RNA	NM_033045.3	NP_149034.2	Q9NSB2	KRT84_HUMAN	keratin 84	245	Coil 1B.|Rod.					keratin filament	structural constituent of epidermis			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(10)|skin(3)	27	all_hematologic(5;0.12)			BRCA - Breast invasive adenocarcinoma(357;0.189)		CCCTCTAGGACATCCTGCAGG	0.582													T	52777396	C	T	52777396	3	4	778	1	0	0	0	0	1	0	0	0	8556	478	17	2	1101	2	KRT84	12	52777396	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	3550116	52777396	81074499	21	57759											
MAP1A	4130	broad.mit.edu	37	chr15	43817305	43817305	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggagacctccctggatGtctcttctaagcagctctct	8	11	9	13	0	3	1	0	0	3	1	6	3	4	2	2	2	2	3	2	2	2	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:43817305G>A	ENST00000382031.1	+	5	4379	c.4348G>A	c.(4348-4350)Gtc>Atc	p.V1450I	MAP1A_ENST00000399453.1_Missense_Mutation_p.V1212I|MAP1A_ENST00000300231.5_Missense_Mutation_p.V1212I			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1212						cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	CTCCCTGGATGTCTCTTCTAA	0.527													A	43817305	G	A	43817305	3	1	778	1	0	0	0	0	1	0	0	0	9302	1377	48	2	3636	2	MAP1A	15	43817305	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		43817305	58714087	22	57760											
TMC3	342125	broad.mit.edu	37	chr15	81627158	81627158	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctctggggcatggactgtgCgactgtctctatcctgccac	5	11	12	13	1	2	0	0	0	2	0	4	2	3	1	2	3	2	2	2	3	1	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr15:81627158C>T	ENST00000558726.1	-	21	2500	c.2365G>A	c.(2365-2367)Gca>Aca	p.A789T	RP11-761I4.3_ENST00000560973.1_RNA|RP11-761I4.3_ENST00000560851.1_RNA|TMC3_ENST00000359440.5_Missense_Mutation_p.A788T|RP11-761I4.3_ENST00000559781.1_RNA			Q7Z5M5	TMC3_HUMAN	transmembrane channel-like 3	788						integral to membrane				autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						ATGGACTGTGCGACTGTCTCT	0.607													T	81627158	C	T	81627158	3	4	778	1	0	0	0	0	1	0	0	0	16086	768	27	1	948	1	TMC3	15	81627158	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	37809853	81627158	20904234	23	57761											
TAOK2	9344	broad.mit.edu	37	chr16	29999002	29999002	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ctgggccccggcggcgtaatCcccgcaccacccaacaccca	8	3	9	21	4	0	0	0	0	0	0	1	0	1	0	7	3	1	2	7	3	2	1			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:29999002C>T	ENST00000308893.4	+	16	4452	c.3409C>T	c.(3409-3411)Ccc>Tcc	p.P1137S	TAOK2_ENST00000416441.2_Missense_Mutation_p.P964S|TAOK2_ENST00000279394.3_Intron|TAOK2_ENST00000543033.1_Missense_Mutation_p.P1024S	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	1137					actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GCGGCGTAATCCCCGCACCAC	0.652													T	29999002	C	T	29999002	3	4	778	1	0	0	0	0	1	0	0	0	15645	855	30	2	3467	2	TAOK2	16	29999002	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08		29999002	60355751	24	57762											
GLG1	2734	broad.mit.edu	37	chr16	74487225	74487225	+	Frame_Shift_Del	DEL	G	G	-																															gatcagagaagccatctgctGgggccacctagaatgacaca																										TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74487225delG	ENST00000422840.2	-	26	3379	c.3380delC	c.(3379-3381)ccafs	p.P1127fs	GLG1_ENST00000205061.5_Frame_Shift_Del_p.P1127fs|GLG1_ENST00000447066.2_Frame_Shift_Del_p.P1116fs	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	1127						Golgi membrane|integral to membrane	receptor binding			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GCCATCTGCTGGGGCCACCTA	0.468													-	74487225	G	-	74487225	7	5	778	1	0	1	0	1	0	0	0	0	6492	1348	47	0	243	0	GLG1	16	74487225	Frame_Shift_Del	DEL	G	TCGA-VM-A8CA-01A-11D-A36O-08	44488223	74487225	15867528	25	57763											
MLKL	197259	broad.mit.edu	37	chr16	74709277	74709277	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacgggatatctccagtggCgatttcccagaggacgattc	11	9	11	10	3	1	1	0	0	1	1	4	5	2	3	2	3	1	0	2	3	2	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr16:74709277C>T	ENST00000308807.7	-	9	1679	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	MLKL_ENST00000306247.7_Silent_p.S187S	NM_152649.2	NP_689862.1	Q8NB16	MLKL_HUMAN	mixed lineage kinase domain-like	406	Protein kinase.						ATP binding|protein binding|protein kinase activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(6)|skin(1)|stomach(2)	19						TCTCCAGTGGCGATTTCCCAG	0.493													T	74709277	C	T	74709277	3	4	778	1	0	0	0	0	1	0	0	0	9694	768	27	1	242	1	MLKL	16	74709277	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	222052	74709277	15645476	26	57764											
POLR2A	5430	broad.mit.edu	37	chr17	7404927	7404927	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtttgagaatcaggtgaaccGcattcttaacgatgcccgag	11	10	11	9	3	2	2	1	2	1	1	2	5	2	2	2	1	3	2	2	1	3	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr17:7404927G>A	ENST00000322644.6	+	14	2627	c.2228G>A	c.(2227-2229)cGc>cAc	p.R743H		NM_000937.4	NP_000928	P24928	RPB1_HUMAN	polymerase (RNA) II (DNA directed) polypeptide A, 220kDa	743					mRNA capping|nuclear mRNA splicing, via spliceosome|positive regulation of viral transcription|protein phosphorylation|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair|viral reproduction	DNA-directed RNA polymerase II, core complex	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|RNA-directed RNA polymerase activity|ubiquitin protein ligase binding			breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(17)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	50		Prostate(122;0.173)				CAGGTGAACCGCATTCTTAAC	0.522													A	7404927	G	A	7404927	3	1	778	1	0	0	0	0	1	0	0	0	12291	1087	38	1	2282	1	POLR2A	17	7404927	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		7404927	73790283	27	57765											
CD209	30835	broad.mit.edu	37	chr19	7809881	7809881	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcccccacttctttgcaggcGgtgatggagtcgtgccagtt	5	11	13	12	2	1	1	0	1	1	0	2	2	1	2	3	3	2	2	3	3	0	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:7809881G>A	ENST00000315599.7	-	5	868	c.846C>T	c.(844-846)acC>acT	p.T282T	CD209_ENST00000204801.8_Silent_p.T238T|CD209_ENST00000601256.1_Silent_p.T258T|CD209_ENST00000593821.1_Silent_p.T146T|CD209_ENST00000602261.1_Silent_p.T190T|CD209_ENST00000394161.5_Intron|CD209_ENST00000354397.6_Silent_p.T282T|CD209_ENST00000593660.1_Silent_p.T212T|CD209_ENST00000601951.1_Silent_p.T258T|CD209_ENST00000301357.8_Silent_p.T146T|CD209_ENST00000394173.4_Silent_p.T121T|CD209_ENST00000315591.8_Silent_p.T258T	NM_001144895.1|NM_001144897.1|NM_021155.3	NP_001138367.1|NP_001138369.1|NP_066978.1	Q9NNX6	CD209_HUMAN	CD209 molecule	282	C-type lectin.				cell-cell recognition|endocytosis|heterophilic cell-cell adhesion|innate immune response|intracellular signal transduction|intracellular virion transport|leukocyte cell-cell adhesion|peptide antigen transport|viral genome replication|virion attachment to host cell surface receptor	cytoplasm|extracellular region|integral to membrane|plasma membrane	mannose binding|metal ion binding|peptide antigen binding|receptor activity|virion binding	p.T282T(1)		endometrium(7)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CTTTGCAGGCGGTGATGGAGT	0.582													A	7809881	G	A	7809881	2	1	778	1	0	0	0	0	0	0	0	1	3014	1103	39	1		1	CD209	19	7809881	Silent	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		7809881	51319102	28	57766											
JAK3	3718	broad.mit.edu	37	chr19	17941029	17941029	+	Splice_Site	DEL	T	T	-																															ccatcatccgcaggaactccTggagccaaggaggagcgcat																										TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:17941029delT	ENST00000458235.1	-	23	3196		c.e23-2		JAK3_ENST00000527670.1_Splice_Site|JAK3_ENST00000534444.1_Splice_Site	NM_000215.3	NP_000206.2	P52333	JAK3_HUMAN	Janus kinase 3						B cell differentiation|cytokine-mediated signaling pathway|enzyme linked receptor protein signaling pathway|intracellular protein kinase cascade|negative regulation of dendritic cell cytokine production|negative regulation of FasL biosynthetic process|negative regulation of interleukin-10 production|negative regulation of interleukin-12 production|negative regulation of T-helper 1 cell differentiation|negative regulation of thymocyte apoptosis|peptidyl-tyrosine phosphorylation|positive regulation of anti-apoptosis|response to interleukin-15|response to interleukin-2|response to interleukin-4|response to interleukin-9|T cell homeostasis	cytoskeleton|cytosol|endomembrane system|membrane	ATP binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(85)|kidney(4)|large_intestine(11)|lung(22)|ovary(3)|prostate(5)|skin(1)|stomach(2)|upper_aerodigestive_tract(5)	147						CAGGAACTCCTGGAGCCAAGG	0.701		2	Mis		"acute megakaryocytic leukemia, ETP ALL"								-	17941029	T	-	17941029	8	5	778	1	0	1	0	1	0	0	1	0	7997	1594	55	0	287	0	JAK3	19	17941029	Splice_Site	DEL	T	TCGA-VM-A8CA-01A-11D-A36O-08	10131148	17941029	41187954	29	57767											
ZNF614	80110	broad.mit.edu	37	chr19	52519679	52519679	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttttctcctgtgtgggagCgctgatgtacaatgagattg	8	15	12	6	1	1	2	0	2	1	1	2	4	1	3	1	1	2	2	1	1	2	4	rs115005123	by1000genomes	TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr19:52519679C>T	ENST00000270649.6	-	5	1716	c.1172G>A	c.(1171-1173)cGc>cAc	p.R391H	ZNF614_ENST00000356322.6_Intron	NM_025040.3	NP_079316.2	Q8N883	ZN614_HUMAN	zinc finger protein 614	391					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0505)		GBM - Glioblastoma multiforme(134;0.00513)|OV - Ovarian serous cystadenocarcinoma(262;0.0177)		TGTGTGGGAGCGCTGATGTAC	0.443													T	52519679	C	T	52519679	3	4	778	1	0	0	0	0	1	0	0	0	18140	768	27	1	589	1	ZNF614	19	52519679	Missense_Mutation	SNP	C	TCGA-VM-A8CA-01A-11D-A36O-08	34578650	52519679	6609304	30	57768											
SETD4	54093	broad.mit.edu	37	chr21	37412909	37412909	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacataacaacttaagggctGtgagtagcctccaagatggt	13	9	11	8	0	0	2	0	1	0	1	1	3	1	2	2	2	3	2	2	2	5	3			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr21:37412909G>T	ENST00000399215.1	-	8	2400	c.1028C>A	c.(1027-1029)aCa>aAa	p.T343K	SETD4_ENST00000399212.1_Missense_Mutation_p.T319K|AP000688.1_ENST00000600312.1_Intron|SETD4_ENST00000481477.1_5'UTR|SETD4_ENST00000332131.4_Missense_Mutation_p.T343K			Q9NVD3	SETD4_HUMAN	SET domain containing 4	343				EILVKYLPSTDKQMDKKISILKDHGYIENLTFGWDGPSWRL LTALKLLCLEAEKFTCWKKVLLGEVISDTNEKTSLDIAQKI CYYFIEETNAVLQKVSHMKDEKEALINQLTLVESLWTEELK ILRASAETLHSLQTAFT -> GWNQLCS (in Ref. 5; AAH02898).						autonomic_ganglia(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)	15						CTTAAGGGCTGTGAGTAGCCT	0.388													T	37412909	G	T	37412909	3	4	778	1	0	0	0	0	1	0	0	0	14226	1377	48	4	306	4	SETD4	21	37412909	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		37412909	10716986	31	57769											
APOBEC3F	200316	broad.mit.edu	37	chr22	39445579	39445579	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggaagaggggcgtcttccGaaaccaggtagcaccaaagt	12	6	13	10	2	1	1	0	0	1	1	2	3	2	2	3	4	2	2	3	4	4	2			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chr22:39445579G>A	ENST00000308521.5	+	5	1073	c.716G>A	c.(715-717)cGa>cAa	p.R239Q	APOBEC3G_ENST00000452957.2_Intron	NM_145298.5	NP_660341.2	Q9HC16	ABC3G_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3F	243					base conversion or substitution editing|DNA cytosine deamination|innate immune response|interspecies interaction between organisms|negative regulation of retroviral genome replication|negative regulation of transposition|positive regulation of defense response to virus by host|response to virus|viral reproduction	apolipoprotein B mRNA editing enzyme complex|cytosol|mitochondrion	cytidine deaminase activity|dCTP deaminase activity|protein homodimerization activity|RNA binding|zinc ion binding			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(6)|skin(2)	16	Melanoma(58;0.04)					GGCGTCTTCCGAAACCAGGTA	0.512													A	39445579	G	A	39445579	3	1	778	1	0	0	0	0	1	0	0	0	796	1058	37	1	873	1	APOBEC3F	22	39445579	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		39445579	11858987	32	57770											
FAM47A	158724	broad.mit.edu	37	chrX	34149054	34149054	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttccttagttttcttcacccGggcctcacaacgatcccata	8	13	5	15	2	3	0	2	0	1	0	5	1	5	0	4	1	1	1	4	1	3	6			TCGA-VM-A8CA-01A-11D-A36O-08	TCGA-VM-A8CA-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6799adf1-45ec-48c3-bd91-58227af39fc4	b63e7d90-775b-4bf0-ac26-60eeea646cda	g.chrX:34149054G>A	ENST00000346193.3	-	1	1393	c.1342C>T	c.(1342-1344)Cgg>Tgg	p.R448W		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	448										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						TTCTTCACCCGGGCCTCACAA	0.562													A	34149054	G	A	34149054	3	1	778	1	0	0	0	0	1	0	0	0	5620	1115	39	1	1037	1	FAM47A	23	34149054	Missense_Mutation	SNP	G	TCGA-VM-A8CA-01A-11D-A36O-08		34149054	121121506	33	57771											
PADI1	29943	broad.mit.edu	37	chr1	17548858	17548858	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtcttcatggtctacaacCgcacacgtgtgaaagagccc	11	8	10	12	2	3	2	1	1	2	1	3	2	3	2	2	2	3	1	2	2	3	2	rs142259163		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:17548858C>T	ENST00000375471.4	+	2	258	c.166C>T	c.(166-168)Cgc>Tgc	p.R56C		NM_013358.2	NP_037490.2	Q9ULC6	PADI1_HUMAN	peptidyl arginine deiminase, type I	56					peptidyl-citrulline biosynthetic process from peptidyl-arginine	cytoplasm	calcium ion binding|protein-arginine deiminase activity	p.R56C(1)		haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	28		Colorectal(325;3.46e-05)|Breast(348;0.000162)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.00054)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00522)|BRCA - Breast invasive adenocarcinoma(304;1.3e-05)|COAD - Colon adenocarcinoma(227;1.31e-05)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(196;0.0069)|READ - Rectum adenocarcinoma(331;0.0681)|Lung(427;0.197)	L-Citrulline(DB00155)	GGTCTACAACCGCACACGTGT	0.552													T	17548858	C	T	17548858	3	4	779	1	0	0	0	0	1	0	0	0	11453	652	23	1	172	1	PADI1	1	17548858	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		17548858	231701763	1	57772											
FUBP1	8880	broad.mit.edu	37	chr1	78425906	78425907	+	Frame_Shift_Del	DEL	TG	TG	-																															tgctgctgccagtgtggataTgcatttccccatccctgggg																								rs145571406		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr1:78425906_78425907delTG	ENST00000370767.1	-	16	1625_1626	c.1538_1539delCA	c.(1537-1539)gcafs	p.A513fs	FUBP1_ENST00000370768.2_Frame_Shift_Del_p.A513fs|FUBP1_ENST00000436586.2_Frame_Shift_Del_p.A534fs			Q96AE4	FUBP1_HUMAN	far upstream element (FUSE) binding protein 1	513	Pro-rich.				transcription from RNA polymerase II promoter	nucleus	protein binding|RNA binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding			central_nervous_system(7)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(1)|upper_aerodigestive_tract(3)	17						AGTGTGGATATGCATTTCCCCA	0.431			"F, N"		oligodendroglioma								-	78425907	TG	-	78425906	7	5	779	1	0	1	0	1	0	0	0	0	6144	1451	51	0	415	0	FUBP1	1	78425906	Frame_Shift_Del	DEL	TG	TCGA-VM-A8CB-01A-11D-A36O-08	60877048	78425906	170824715	2	57773											
TAF1B	9014	broad.mit.edu	37	chr2	9989570	9989571	+	Frame_Shift_Ins	INS	-	-	A																															aagccctcaaccgggggcttINSaaaaaaaaaaacaatactgg																										TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:9989570_9989571insA	ENST00000263663.5	+	3	374_375	c.186_187insA	c.(187-189)aaafs	p.K63fs	TAF1B_ENST00000396242.3_5'UTR|TAF1B_ENST00000402170.1_3'UTR	NM_005680.2	NP_005671	Q53T94	TAF1B_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, B, 63kDa	63					termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity	p.K63fs*1(1)		breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					ACCGGGGGCTTAAAAAAAAAAA	0.337													A	9989571	-	A	9989570	7	5	779	1	0	1	1	0	0	0	0	0	15617	1741	61	0	196	0	TAF1B	2	9989570	Frame_Shift_Ins	INS	-	TCGA-VM-A8CB-01A-11D-A36O-08		9989570	233209803	3	57774											
RANBP2	5903	broad.mit.edu	37	chr2	109380084	109380084	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacacaacacagccaactcCttttaaatttaactcaaatt	17	11	1	12	0	1	0	1	0	0	0	2	0	2	0	2	0	4	0	2	0	6	5			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:109380084C>A	ENST00000283195.6	+	20	3215	c.3089C>A	c.(3088-3090)cCt>cAt	p.P1030H		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	1030					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						CAGCCAACTCCTTTTAAATTT	0.423													A	109380084	C	A	109380084	3	1	779	1	0	0	0	0	1	0	0	0	13116	681	24	4	3167	4	RANBP2	2	109380084	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	99390514	109380084	133819289	4	57775											
CXCR4	7852	broad.mit.edu	37	chr2	136873410	136873410	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaattagcattttcttcacGgaaacagggttccttcatgg	11	13	9	8	1	3	0	2	0	1	0	4	2	4	1	1	3	2	2	1	3	3	6			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:136873410G>A	ENST00000409817.1	-	1	403	c.100C>T	c.(100-102)Cgt>Tgt	p.R34C	CXCR4_ENST00000241393.3_Missense_Mutation_p.R30C|CXCR4_ENST00000466288.1_5'UTR	NM_001008540.1	NP_001008540.1	P61073	CXCR4_HUMAN	chemokine (C-X-C motif) receptor 4	30					activation of MAPK activity|apoptosis|dendritic cell chemotaxis|elevation of cytosolic calcium ion concentration|entry into host cell|inflammatory response|initiation of viral infection|regulation of chemotaxis|response to hypoxia|response to virus	cell leading edge|cell surface|cytoplasmic membrane-bounded vesicle|integral to membrane|plasma membrane	actin binding|C-X-C chemokine receptor activity|coreceptor activity|myosin light chain binding|ubiquitin binding|ubiquitin protein ligase binding			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(14)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.155)	Framycetin(DB00452)	TTTTCTTCACGGAAACAGGGT	0.433													A	136873410	G	A	136873410	3	1	779	1	0	0	0	0	1	0	0	0	4126	1116	39	1	974	1	CXCR4	2	136873410	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	27493326	136873410	106325963	5	57776											
ITGA4	3676	broad.mit.edu	37	chr2	182347308	182347308	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatggcttctcagatctgcTcgtgggagcacccatgcaga	9	9	12	11	1	2	3	1	0	2	3	4	4	2	4	1	2	3	4	1	2	0	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:182347308T>C	ENST00000397033.2	+	9	1401	c.971T>C	c.(970-972)cTc>cCc	p.L324P		NM_000885.4	NP_000876.3	P13612	ITA4_HUMAN	integrin, alpha 4 (antigen CD49D, alpha 4 subunit of VLA-4 receptor)	324					blood coagulation|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|leukocyte migration|regulation of immune response	integrin complex	identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(27)|ovary(3)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58			OV - Ovarian serous cystadenocarcinoma(117;0.0593)		Natalizumab(DB00108)	TCAGATCTGCTCGTGGGAGCA	0.512													C	182347308	T	C	182347308	3	2	779	1	0	0	0	0	1	0	0	0	7936	1551	54	3	1005	3	ITGA4	2	182347308	Missense_Mutation	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08	45473898	182347308	60852065	6	57777											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	779	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	26765804	209113112	34086261	7	57778											
MLPH	79083	broad.mit.edu	37	chr2	238419718	238419718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	aagtgccaaggtcatccggtCcctccacgggcggctgcagg	7	6	14	14	3	1	0	1	0	0	0	4	0	4	0	4	5	2	2	4	5	2	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr2:238419718C>T	ENST00000264605.3	+	4	713	c.419C>T	c.(418-420)tCc>tTc	p.S140F	MLPH_ENST00000409373.1_Missense_Mutation_p.S140F|MLPH_ENST00000410032.1_Missense_Mutation_p.S140F|MLPH_ENST00000338530.4_Missense_Mutation_p.S140F|MLPH_ENST00000468178.1_3'UTR|MLPH_ENST00000445024.2_Missense_Mutation_p.S140F	NM_024101.5	NP_077006.1	Q9BV36	MELPH_HUMAN	melanophilin	140							metal ion binding			NS(1)|breast(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(11)|ovary(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Breast(86;0.000381)|Renal(207;0.000966)|Ovarian(221;0.0695)|all_hematologic(139;0.095)|all_lung(227;0.17)|Melanoma(123;0.203)		Epithelial(121;1.17e-21)|OV - Ovarian serous cystadenocarcinoma(60;1.02e-10)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;1.15e-07)|BRCA - Breast invasive adenocarcinoma(100;0.000439)|Lung(119;0.0132)|LUSC - Lung squamous cell carcinoma(224;0.0316)		GTCATCCGGTCCCTCCACGGG	0.532													T	238419718	C	T	238419718	3	4	779	1	0	0	0	0	1	0	0	0	9708	855	30	2	429	2	MLPH	2	238419718	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	29306606	238419718	4779655	8	57779											
SLC4A7	9497	broad.mit.edu	37	chr3	27427493	27427493	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	acacaggtccatgagtttgcGcacaaacactaatgcaagaa	16	7	8	10	1	0	2	0	1	0	1	1	2	1	2	1	1	3	3	1	1	4	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:27427493G>A	ENST00000295736.5	-	23	3425	c.3355C>T	c.(3355-3357)Cgc>Tgc	p.R1119C	SLC4A7_ENST00000437179.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000454389.1_Missense_Mutation_p.R1128C|SLC4A7_ENST00000428386.1_Missense_Mutation_p.R995C|SLC4A7_ENST00000388777.4_Missense_Mutation_p.R669C|SLC4A7_ENST00000440156.1_Missense_Mutation_p.R1115C|SLC4A7_ENST00000425128.2_3'UTR|SLC4A7_ENST00000435667.2_Missense_Mutation_p.R1004C|SLC4A7_ENST00000446700.1_Missense_Mutation_p.R1111C|SLC4A7_ENST00000455077.1_Missense_Mutation_p.R1000C|SLC4A7_ENST00000445684.1_Missense_Mutation_p.R1115C	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	1119						apical plasma membrane|basolateral plasma membrane|integral to membrane|stereocilium	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	p.R1119C(1)		NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38						ATGAGTTTGCGCACAAACACT	0.328													A	27427493	G	A	27427493	3	1	779	1	0	0	0	0	1	0	0	0	14752	1087	38	1	301	1	SLC4A7	3	27427493	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		27427493	170594937	9	57780											
ARHGAP31	57514	broad.mit.edu	37	chr3	119133649	119133649	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagccattctctagatagcaAacccacggttaaaagccagt	14	8	8	11	1	1	1	0	0	1	1	2	2	1	1	3	1	4	2	3	1	5	4			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:119133649A>G	ENST00000264245.4	+	12	3405	c.2873A>G	c.(2872-2874)aAa>aGa	p.K958R		NM_020754.2	NP_065805.2	Q2M1Z3	RHG31_HUMAN	Rho GTPase activating protein 31	958					regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|focal adhesion|lamellipodium	GTPase activator activity			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(3)|large_intestine(11)|lung(29)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	67						CTAGATAGCAAACCCACGGTT	0.567													G	119133649	A	G	119133649	3	3	779	1	0	0	0	0	1	0	0	0	883	14	1	3	2919	3	ARHGAP31	3	119133649	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	91706156	119133649	78888781	10	57781											
RSRC1	51319	broad.mit.edu	37	chr3	157920909	157920909	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	catagtcgtagcagtgaaagGtccagtcacagaagaacgcg	14	6	12	9	3	1	3	1	1	0	2	3	3	2	3	1	1	2	2	1	1	5	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr3:157920909G>C	ENST00000295930.3	+	4	531	c.369G>C	c.(367-369)agG>agC	p.R123S	RSRC1_ENST00000312179.6_Intron|RSRC1_ENST00000464171.1_Intron|RSRC1_ENST00000480820.1_Missense_Mutation_p.R123S|RSRC1_ENST00000475278.2_Missense_Mutation_p.R123S	NM_001271838.1|NM_016625.2	NP_001258767.1|NP_057709.2	Q96IZ7	RSRC1_HUMAN	arginine/serine-rich coiled-coil 1	123	Arg/Ser-rich.				nucleocytoplasmic transport	cytoplasm|nuclear speck	protein binding			cervix(1)|endometrium(2)|large_intestine(3)|lung(11)|upper_aerodigestive_tract(1)	18			Lung(72;0.00416)|LUSC - Lung squamous cell carcinoma(72;0.00575)			GCAGTGAAAGGTCCAGTCACA	0.433													C	157920909	G	C	157920909	3	2	779	1	0	0	0	0	1	0	0	0	13805	1252	44	4	379	4	RSRC1	3	157920909	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	38787260	157920909	40101521	11	57782											
GPR125	166647	broad.mit.edu	37	chr4	22390464	22390464	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	atatttgcgctcagggtgtcTtttcaactgaataaatatgc	11	15	8	7	1	3	1	2	1	1	0	3	1	3	1	0	1	3	1	0	1	6	6			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr4:22390464T>C	ENST00000334304.5	-	19	3099	c.2830A>G	c.(2830-2832)Aga>Gga	p.R944G	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	944					neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity			breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				TCAGGGTGTCTTTTCAACTGA	0.458													C	22390464	T	C	22390464	3	2	779	1	0	0	0	0	1	0	0	0	6693	1617	56	3	1139	3	GPR125	4	22390464	Missense_Mutation	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08		22390464	168763812	12	57783											
KIF6	221458	broad.mit.edu	37	chr6	39507890	39507890	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttctgggtttcctaggcGgaagggtgggctctgggact	4	13	16	8	1	3	0	0	0	3	0	4	2	4	2	1	6	0	2	1	6	2	4			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:39507890G>A	ENST00000287152.7	-	13	1628	c.1534C>T	c.(1534-1536)Cgc>Tgc	p.R512C	KIF6_ENST00000373213.4_Missense_Mutation_p.R351C|KIF6_ENST00000538893.1_Intron|KIF6_ENST00000373215.3_Missense_Mutation_p.R512C|KIF6_ENST00000373216.3_Missense_Mutation_p.R512C	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	512			R -> H (in dbSNP:rs2273063).		microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						TTTCCTAGGCGGAAGGGTGGG	0.498													A	39507890	G	A	39507890	3	1	779	1	0	0	0	0	1	0	0	0	8366	1116	39	1	954	1	KIF6	6	39507890	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		39507890	131607177	13	57784											
CYP39A1	51302	broad.mit.edu	37	chr6	46555791	46555791	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	aggtttgaacaattcaggctCaggaaaatactttggatttc	13	13	9	6	0	2	1	2	1	0	0	3	3	2	3	0	4	2	2	0	4	5	5			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46555791C>T	ENST00000275016.2	-	9	1344	c.1141G>A	c.(1141-1143)Gag>Aag	p.E381K		NM_016593.3	NP_057677.2	Q9NYL5	CP39A_HUMAN	cytochrome P450, family 39, subfamily A, polypeptide 1	381					bile acid biosynthetic process|bile acid catabolic process|digestion|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	24-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity		EIF3K/CYP39A1(2)	NS(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|prostate(2)|skin(2)	21						AATTCAGGCTCAGGAAAATAC	0.299													T	46555791	C	T	46555791	3	4	779	1	0	0	0	0	1	0	0	0	4210	835	29	2	284	2	CYP39A1	6	46555791	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	7047901	46555791	124559276	14	57785											
MEP1A	4224	broad.mit.edu	37	chr6	46766355	46766355	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acttccagctgcaggcttggAcctctttcaaggggacatcc	8	10	10	13	0	2	0	1	0	1	0	4	2	4	2	3	4	2	3	3	4	1	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr6:46766355A>T	ENST00000230588.4	+	4	167	c.158A>T	c.(157-159)gAc>gTc	p.D53V		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	53					digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			GCAGGCTTGGACCTCTTTCAA	0.398													T	46766355	A	T	46766355	3	4	779	1	0	0	0	0	1	0	0	0	9550	275	10	5	172	5	MEP1A	6	46766355	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	210564	46766355	124348712	15	57786											
EIF3B	8662	broad.mit.edu	37	chr7	2403386	2403386	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aaagaccctgtctcaattgaAgaaagagcggtgtgtatttg	13	11	11	6	1	1	4	1	1	1	3	2	4	1	4	1	1	1	1	1	1	5	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:2403386A>G	ENST00000360876.4	+	5	1046	c.990A>G	c.(988-990)gaA>gaG	p.E330E	EIF3B_ENST00000397011.2_Silent_p.E330E	NM_001037283.1	NP_001032360.1	P55884	EIF3B_HUMAN	eukaryotic translation initiation factor 3, subunit B	330	Sufficient for interaction with EIF3E.				regulation of translational initiation	cytosol|eukaryotic translation initiation factor 3 complex	nucleotide binding|protein complex scaffold|translation initiation factor activity			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(11)|ovary(1)|skin(1)	24		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0833)|OV - Ovarian serous cystadenocarcinoma(56;7.76e-14)		TCTCAATTGAAGAAAGAGCGG	0.448													G	2403386	A	G	2403386	2	3	779	1	0	0	0	0	0	0	0	1	5052	69	3	3		3	EIF3B	7	2403386	Silent	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		2403386	156735277	16	57787											
FLNC	2318	broad.mit.edu	37	chr7	128493774	128493774	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	ttgtccccacttcaggaagcCccttcactgtgaaggtgacc	8	10	9	14	0	2	2	2	2	0	0	3	3	3	3	5	2	1	0	5	2	2	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:128493774C>T	ENST00000325888.8	+	39	6628	c.6367C>T	c.(6367-6369)Ccc>Tcc	p.P2123S	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.P2090S	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2123					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						TTCAGGAAGCCCCTTCACTGT	0.642													T	128493774	C	T	128493774	3	4	779	1	0	0	0	0	1	0	0	0	5984	623	22	2	6521	2	FLNC	7	128493774	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	126090388	128493774	30644889	17	57788											
RBM33	155435	broad.mit.edu	37	chr7	155531073	155531074	+	Frame_Shift_Del	DEL	CA	CA	-																															ccaggacagccgtttctgccCacacacacacagcccaacct																										TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr7:155531073_155531074delCA	ENST00000401878.3	+	11	1911_1912	c.1713_1714delCA	c.(1711-1716)cccacafs	p.T572fs		NM_053043.2	NP_444271.2	Q96EV2	RBM33_HUMAN	RNA binding motif protein 33	572	Pro-rich.						nucleotide binding|RNA binding			breast(3)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	27	all_neural(206;0.101)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.011)	UCEC - Uterine corpus endometrioid carcinoma (81;0.2)		CGTTTCTGCCCACACACACACA	0.53													-	155531074	CA	-	155531073	7	5	779	1	0	1	0	1	0	0	0	0	13218	581	21	0	1755	0	RBM33	7	155531073	Frame_Shift_Del	DEL	CA	TCGA-VM-A8CB-01A-11D-A36O-08	27037299	155531073	3607590	18	57789											
NEFM	4741	broad.mit.edu	37	chr8	24774809	24774809	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagccattacagaggaattgGccgtttccatgaaggaagag	13	8	12	8	1	0	3	0	1	0	2	1	5	1	5	3	3	2	1	3	3	4	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr8:24774809G>A	ENST00000221166.5	+	3	2223	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	NEFM_ENST00000518131.1_Missense_Mutation_p.A481T|NEFM_ENST00000433454.2_Missense_Mutation_p.A105T|NEFM_ENST00000437366.2_Missense_Mutation_p.A481T|NEFM_ENST00000521540.1_3'UTR			P07197	NFM_HUMAN	neurofilament, medium polypeptide	481	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		AGAGGAATTGGCCGTTTCCAT	0.458													A	24774809	G	A	24774809	3	1	779	1	0	0	0	0	1	0	0	0	10392	1203	42	2	1451	2	NEFM	8	24774809	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		24774809	121589213	19	57790											
PTGR1	22949	broad.mit.edu	37	chr9	114337092	114337092	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccaaatttcttcatctggcCgataacagtgtttgaaaact	12	14	6	9	1	3	1	1	1	2	0	4	2	4	1	2	1	2	1	2	1	4	4	rs146199919	byFrequency	TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr9:114337092C>T	ENST00000407693.2	-	8	944	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	PTGR1_ENST00000538962.1_Missense_Mutation_p.G228S|ZNF483_ENST00000358151.4_Intron|PTGR1_ENST00000238248.3_Missense_Mutation_p.G105S|PTGR1_ENST00000309195.5_Missense_Mutation_p.G228S|RP11-16L21.7_ENST00000450154.1_RNA	NM_001146108.1	NP_001139580.1	Q14914	PTGR1_HUMAN	prostaglandin reductase 1	228					leukotriene metabolic process	cytoplasm	15-oxoprostaglandin 13-oxidase activity|2-alkenal reductase activity|alcohol dehydrogenase (NAD) activity|zinc ion binding			endometrium(2)|large_intestine(5)|lung(3)|ovary(1)	11						TTCATCTGGCCGATAACAGTG	0.403													T	114337092	C	T	114337092	3	4	779	1	0	0	0	0	1	0	0	0	12839	652	23	1	350	1	PTGR1	9	114337092	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		114337092	26876339	20	57791											
OR4S2	219431	broad.mit.edu	37	chr11	55419211	55419211	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tattttacaccattatcactCccatgttaaatcctctgatt	11	17	2	11	0	2	1	1	1	1	0	4	1	4	1	3	0	1	1	3	0	5	6			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr11:55419211C>G	ENST00000312422.2	+	1	832	c.832C>G	c.(832-834)Ccc>Gcc	p.P278A		NM_001004059.2	NP_001004059.2	Q8NH73	OR4S2_HUMAN	olfactory receptor, family 4, subfamily S, member 2	278					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(4)|lung(28)|ovary(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_epithelial(135;0.0748)				CATTATCACTCCCATGTTAAA	0.408													G	55419211	C	G	55419211	3	3	779	1	0	0	0	0	1	0	0	0	11159	855	30	4	834	4	OR4S2	11	55419211	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		55419211	79587305	21	57792											
ATXN2	6311	broad.mit.edu	37	chr12	111895132	111895132	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagggtagcgttagggtgCgcatactgctgagcaaggga	9	8	17	7	2	0	1	0	1	0	0	0	2	0	2	0	3	6	6	0	3	4	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr12:111895132C>T	ENST00000377617.3	-	22	3563	c.3402G>A	c.(3400-3402)gcG>gcA	p.A1134A	ATXN2_ENST00000535949.1_Silent_p.A827A|ATXN2_ENST00000608853.1_Silent_p.A974A|ATXN2_ENST00000389153.4_Silent_p.A871A|ATXN2_ENST00000542287.2_Silent_p.A869A|ATXN2_ENST00000550104.1_3'UTR	NM_002973.3	NP_002964.3	Q99700	ATX2_HUMAN	ataxin 2	1134					cell death|cytoplasmic mRNA processing body assembly|regulation of translation|RNA metabolic process|RNA transport|stress granule assembly	nucleus|perinuclear region of cytoplasm|polysome|stress granule|trans-Golgi network	protein C-terminus binding|RNA binding			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(8)|lung(6)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	37						CGTTAGGGTGCGCATACTGCT	0.537													T	111895132	C	T	111895132	2	4	779	1	0	0	0	0	0	0	0	1	1216	755	27	1		1	ATXN2	12	111895132	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		111895132	21956763	22	57793											
VPS36	51028	broad.mit.edu	37	chr13	52991270	52991270	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgacgccactgtcaaacacAcggagcctgaaaaccacagg	15	4	9	13	2	1	2	1	2	0	0	1	3	1	3	3	2	3	0	3	2	3	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:52991270A>T	ENST00000378060.4	-	12	939	c.912T>A	c.(910-912)cgT>cgA	p.R304R		NM_001282168.1|NM_001282169.1|NM_016075.2	NP_001269097.1|NP_001269098.1|NP_057159.2	Q86VN1	VPS36_HUMAN	vacuolar protein sorting 36 homolog (S. cerevisiae)	304					cellular membrane organization|endosome transport|protein transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|late endosome|membrane|nucleus	lipid binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	17		Breast(56;0.000207)|Lung NSC(96;0.00212)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.14e-08)		TGTCAAACACACGGAGCCTGA	0.468													T	52991270	A	T	52991270	2	4	779	1	0	0	0	0	0	0	0	1	17306	146	6	5		5	VPS36	13	52991270	Silent	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		52991270	62178608	23	57794											
HS6ST3	266722	broad.mit.edu	37	chr13	97485206	97485206	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcttctaacgtggagatcaaCgagggtgcccgccaacgcat	10	7	12	12	4	2	1	1	0	1	1	2	3	2	1	2	2	4	2	2	2	3	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr13:97485206C>T	ENST00000376705.2	+	2	1194	c.1170C>T	c.(1168-1170)aaC>aaT	p.N390N		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	390						integral to membrane	sulfotransferase activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					TGGAGATCAACGAGGGTGCCC	0.498													T	97485206	C	T	97485206	2	4	779	1	0	0	0	0	0	0	0	1	7427	535	19	1		1	HS6ST3	13	97485206	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	44493936	97485206	17684672	24	57795											
CYP46A1	10858	broad.mit.edu	37	chr14	100166434	100166434	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatagacctggccttcagcCggaggtgagtgtggccggag	7	8	16	10	2	2	2	2	1	0	1	2	4	2	4	4	5	1	0	4	5	1	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr14:100166434C>T	ENST00000261835.3	+	5	543	c.439C>T	c.(439-441)Cgg>Tgg	p.R147W	CYP46A1_ENST00000423126.2_Missense_Mutation_p.R50W	NM_006668.1	NP_006659.1	Q9Y6A2	CP46A_HUMAN	cytochrome P450, family 46, subfamily A, polypeptide 1	147					bile acid biosynthetic process|cholesterol catabolic process|nervous system development|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	cholesterol 24-hydroxylase activity|electron carrier activity|heme binding|steroid hydroxylase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|prostate(1)|skin(1)	25		Melanoma(154;0.0866)|all_epithelial(191;0.179)				GGCCTTCAGCCGGAGGTGAGT	0.627													T	100166434	C	T	100166434	3	4	779	1	0	0	0	0	1	0	0	0	4215	643	23	1	457	1	CYP46A1	14	100166434	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		100166434	7183106	25	57796											
HERC1	8925	broad.mit.edu	37	chr15	64067698	64067698	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtactacttccttattgctaAccagtttagaatacagaaca	14	13	5	9	0	0	2	0	0	0	2	1	2	1	2	2	0	6	3	2	0	8	9			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:64067698A>G	ENST00000443617.2	-	2	212	c.125T>C	c.(124-126)gTt>gCt	p.V42A		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	42					protein modification process|transport	cytosol|Golgi apparatus|membrane	acid-amino acid ligase activity|ARF guanyl-nucleotide exchange factor activity			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						CTTATTGCTAACCAGTTTAGA	0.433													G	64067698	A	G	64067698	3	3	779	1	0	0	0	0	1	0	0	0	7112	43	2	3	14768	3	HERC1	15	64067698	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		64067698	38463694	26	57797											
PML	5371	broad.mit.edu	37	chr15	74328199	74328199	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctctcaagtccaagtgccTctggaagcctctccaattac	9	10	7	15	0	3	0	1	0	3	0	6	1	4	1	5	1	3	0	5	1	5	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr15:74328199T>C	ENST00000268059.6	+	8	2493	c.2397T>C	c.(2395-2397)ccT>ccC	p.P799P	PML_ENST00000354026.6_Silent_p.P751P|PML_ENST00000395132.2_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000563500.1_3'UTR|PML_ENST00000435786.2_3'UTR|PML_ENST00000569965.1_Intron|PML_ENST00000436891.3_3'UTR|PML_ENST00000359928.4_Intron|PML_ENST00000565898.1_Intron	NM_033239.2|NM_033244.3	NP_150242.1|NP_150247.2	P29590	PML_HUMAN	promyelocytic leukemia	89					cell cycle arrest|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 resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						TCCAAGTGCCTCTGGAAGCCT	0.627			T	"RARA, PAX5"	"APL, ALL"								C	74328199	T	C	74328199	2	2	779	1	0	0	0	0	0	0	0	1	12212	1538	54	3		3	PML	15	74328199	Silent	SNP	T	TCGA-VM-A8CB-01A-11D-A36O-08	10260501	74328199	28203193	27	57798											
MYH3	4621	broad.mit.edu	37	chr17	10546191	10546191	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtccatcccgaagtcaatGaacgtccactcgatgccttc	10	9	8	14	3	1	1	1	1	0	0	6	3	4	1	4	1	2	0	4	1	3	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:10546191G>T	ENST00000583535.1	-	15	1620	c.1533C>A	c.(1531-1533)ttC>ttA	p.F511L	MYH3_ENST00000226209.7_Missense_Mutation_p.F511L	NM_002470.3	NP_002461.2	P11055	MYH3_HUMAN	myosin, heavy chain 3, skeletal muscle, embryonic	511	Myosin head-like.				muscle filament sliding|muscle organ development	cytosol|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(5)|large_intestine(18)|lung(30)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	83						CGAAGTCAATGAACGTCCACT	0.502													T	10546191	G	T	10546191	3	4	779	1	0	0	0	0	1	0	0	0	10112	1281	45	4	4397	4	MYH3	17	10546191	Missense_Mutation	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08		10546191	70649019	28	57799											
CCL11	6356	broad.mit.edu	37	chr17	32614693	32614693	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtatctggaccaaaaatctcCaactccaaagccataaataa	18	8	4	11	0	2	0	0	0	2	0	4	1	3	1	4	1	2	1	4	1	8	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:32614693C>T	ENST00000305869.3	+	3	419	c.278C>T	c.(277-279)cCa>cTa	p.P93L		NM_002986.2	NP_002977.1	P51671	CCL11_HUMAN	chemokine (C-C motif) ligand 11	93					cell adhesion|cellular calcium ion homeostasis|immune response|positive regulation of actin filament polymerization|positive regulation of cell migration|positive regulation of endothelial cell proliferation|positive regulation of Rac GTPase activity|protein phosphorylation|response to radiation|response to virus|signal transduction	extracellular space	chemokine activity			breast(1)|lung(1)|prostate(1)	3	Breast(3;0.00224)	Breast(31;0.151)|Ovarian(249;0.17)		BRCA - Breast invasive adenocarcinoma(366;0.155)		CAAAAATCTCCAACTCCAAAG	0.438													T	32614693	C	T	32614693	3	4	779	1	0	0	0	0	1	0	0	0	2911	594	21	2	288	2	CCL11	17	32614693	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	22068502	32614693	48580517	29	57800											
MAP2K6	5608	broad.mit.edu	37	chr17	67501928	67501928	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttccccataggcaagaaGcgaaaccctggccttaaaat	13	9	7	12	1	1	1	0	0	1	1	2	2	2	1	4	2	2	1	4	2	6	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:67501928G>A	ENST00000590474.1	+	2	311	c.24G>A	c.(22-24)aaG>aaA	p.K8K	MAP2K6_ENST00000589647.1_5'UTR	NM_002758.3	NP_002749.2	P52564	MP2K6_HUMAN	mitogen-activated protein kinase kinase 6	8					activation of MAPK activity|cell cycle arrest|DNA damage induced protein phosphorylation|innate immune response|muscle cell differentiation|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of muscle cell differentiation|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(8)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)	20	Breast(10;6.05e-10)					TAGGCAAGAAGCGAAACCCTG	0.433													A	67501928	G	A	67501928	2	1	779	1	0	0	0	0	0	0	0	1	9316	962	34	2		2	MAP2K6	17	67501928	Silent	SNP	G	TCGA-VM-A8CB-01A-11D-A36O-08	34887235	67501928	13693282	30	57801											
EVPL	2125	broad.mit.edu	37	chr17	74003439	74003439	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tggatggggatgcggcctgtCctcttggggtcgatgagccc	4	10	17	10	2	1	1	0	1	1	0	3	4	2	3	3	6	2	0	3	6	0	1			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr17:74003439C>A	ENST00000301607.3	-	22	6100	c.5847G>T	c.(5845-5847)agG>agT	p.R1949S	EVPL_ENST00000586740.1_Missense_Mutation_p.R1971S	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1949	Globular 2.				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						TGCGGCCTGTCCTCTTGGGGT	0.662													A	74003439	C	A	74003439	3	1	779	1	0	0	0	0	1	0	0	0	5333	854	30	4	258	4	EVPL	17	74003439	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	6501511	74003439	7191771	31	57802											
GRIK5	2901	broad.mit.edu	37	chr19	42507582	42507582	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgagcacgataaaaatgcCaccaatgttctccatgccca	14	8	7	12	1	1	1	0	1	1	0	2	3	1	1	4	0	3	2	4	0	4	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42507582C>T	ENST00000262895.3	-	18	2415	c.2416G>A	c.(2416-2418)Ggc>Agc	p.G806S	GRIK5_ENST00000301218.4_Missense_Mutation_p.G806S|GRIK5_ENST00000593562.1_Missense_Mutation_p.G806S	NM_002088.4	NP_002079.3	Q16478	GRIK5_HUMAN	glutamate receptor, ionotropic, kainate 5	806						cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|liver(1)|lung(11)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	35		Prostate(69;0.059)			L-Glutamic Acid(DB00142)	ATAAAAATGCCACCAATGTTC	0.577													T	42507582	C	T	42507582	3	4	779	1	0	0	0	0	1	0	0	0	6832	594	21	2	534	2	GRIK5	19	42507582	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		42507582	16621401	32	57803											
CIC	23152	broad.mit.edu	37	chr19	42791808	42791808	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacaaccggaccgtcagcAagatcctgggcgagtggtgg	10	5	16	10	3	1	1	1	0	0	1	2	4	2	3	3	5	2	1	3	5	2	0			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr19:42791808A>G	ENST00000572681.2	+	6	3489	c.3421A>G	c.(3421-3423)Aag>Gag	p.K1141E	CIC_ENST00000575354.2_Missense_Mutation_p.K232E|CIC_ENST00000160740.3_Missense_Mutation_p.K232E			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	232	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				GACCGTCAGCAAGATCCTGGG	0.622			"Mis, F, S"		oligodendroglioma								G	42791808	A	G	42791808	3	3	779	1	0	0	0	0	1	0	0	0	3454	131	5	3	712	3	CIC	19	42791808	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08	284226	42791808	16337175	33	57804											
KIF16B	55614	broad.mit.edu	37	chr20	16387071	16387071	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttggatggttaaagcgaaacAtattggttcttcccaagaga	13	12	10	6	1	1	1	0	0	1	1	2	4	2	2	1	3	2	2	1	3	5	6			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr20:16387071A>T	ENST00000354981.2	-	16	1800	c.1643T>A	c.(1642-1644)aTg>aAg	p.M548K	KIF16B_ENST00000355755.3_Missense_Mutation_p.M548K|KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000408042.1_Missense_Mutation_p.M548K	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	548					cell communication|early endosome to late endosome transport|endoderm development|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|formation of primary germ layer|Golgi to endosome transport|microtubule-based movement|receptor catabolic process|regulation of receptor recycling	early endosome membrane|microtubule	ATP binding|phosphatidylinositol-3,4,5-trisphosphate binding|phosphatidylinositol-3,4-bisphosphate binding|phosphatidylinositol-3,5-bisphosphate binding|phosphatidylinositol-3-phosphate binding|plus-end-directed microtubule motor activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						AAAGCGAAACATATTGGTTCT	0.468													T	16387071	A	T	16387071	3	4	779	1	0	0	0	0	1	0	0	0	8336	217	8	5	2354	5	KIF16B	20	16387071	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		16387071	46638449	34	57805											
SLC5A1	6523	broad.mit.edu	37	chr22	32487699	32487699	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcttcaccatggacatctaCgccaaggtccgcaagagagc	11	7	9	14	2	3	1	1	0	2	1	4	3	4	2	3	2	2	1	3	2	3	2			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chr22:32487699C>T	ENST00000266088.4	+	11	1480	c.1230C>T	c.(1228-1230)taC>taT	p.Y410Y	SLC5A1_ENST00000543737.1_Silent_p.Y283Y	NM_000343.3	NP_000334.1	P13866	SC5A1_HUMAN	solute carrier family 5 (sodium/glucose cotransporter), member 1	410					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						TGGACATCTACGCCAAGGTCC	0.537													T	32487699	C	T	32487699	2	4	779	1	0	0	0	0	0	0	0	1	14755	547	19	1		1	SLC5A1	22	32487699	Silent	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08		32487699	18816867	35	57806											
IGBP1	3476	broad.mit.edu	37	chrX	69370131	69370131	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gtatgagcaacatcggaaatAtggagcattaccggatcagg	14	8	12	7	2	1	1	1	1	0	0	2	4	1	4	1	4	4	3	1	4	5	3			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:69370131A>G	ENST00000342206.6	+	5	1329	c.830A>G	c.(829-831)tAt>tGt	p.Y277C	IGBP1_ENST00000356413.4_Missense_Mutation_p.Y277C			P78318	IGBP1_HUMAN	immunoglobulin (CD79A) binding protein 1	277					B cell activation|negative regulation of caspase activity|negative regulation of stress-activated MAPK cascade|negative regulation of transcription from RNA polymerase II promoter|regulation of microtubule-based movement|response to interleukin-1|response to tumor necrosis factor|signal transduction	cytoplasm	protein phosphatase type 2A regulator activity			kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(2)	11						CATCGGAAATATGGAGCATTA	0.458													G	69370131	A	G	69370131	3	3	779	1	0	0	0	0	1	0	0	0	7625	449	16	3	848	3	IGBP1	23	69370131	Missense_Mutation	SNP	A	TCGA-VM-A8CB-01A-11D-A36O-08		69370131	85900429	36	57807											
USP26	83844	broad.mit.edu	37	chrX	132160495	132160495	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgttgcaggccatgatacaCtgatgtttccagaagtcatc	10	13	9	9	0	1	3	1	2	0	1	3	3	2	3	2	1	2	3	2	1	2	4			TCGA-VM-A8CB-01A-11D-A36O-08	TCGA-VM-A8CB-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b25c0282-4c24-40bd-afdf-7a1e22a2e010	501724d7-f323-41b0-a4d2-41dfd3e141db	g.chrX:132160495C>G	ENST00000511190.1	-	6	2223	c.1754G>C	c.(1753-1755)aGt>aCt	p.S585T	USP26_ENST00000370832.1_Missense_Mutation_p.S585T|USP26_ENST00000406273.1_Missense_Mutation_p.S585T	NM_031907.1	NP_114113.1	Q9BXU7	UBP26_HUMAN	ubiquitin specific peptidase 26	585					protein deubiquitination|ubiquitin-dependent protein catabolic process	nucleus	cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(11)|liver(2)|lung(18)|ovary(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	60	Acute lymphoblastic leukemia(192;0.000127)					CCATGATACACTGATGTTTCC	0.398													G	132160495	C	G	132160495	3	3	779	1	0	0	0	0	1	0	0	0	17159	565	20	4	990	4	USP26	23	132160495	Missense_Mutation	SNP	C	TCGA-VM-A8CB-01A-11D-A36O-08	62790364	132160495	23110065	37	57808											
HYI	81888	broad.mit.edu	37	chr1	43919413	43919413	+	Frame_Shift_Del	DEL	A	A	-																															cacccgcgcggggaggccggAgagctcggggaatagccagg																								rs6692611	by1000genomes	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:43919413delA	ENST00000372425.4	-	1	247	c.52delT	c.(52-54)tccfs	p.S18fs	HYI_ENST00000372434.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000486909.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000372432.1_Frame_Shift_Del_p.S18fs|HYI_ENST00000583037.1_5'UTR			Q5T013	HYI_HUMAN	hydroxypyruvate isomerase (putative)	18				S -> P (in Ref. 1; AAV84474, 3; AAK67642 and 5; AAH19041).			hydroxypyruvate isomerase activity			large_intestine(1)|lung(2)|ovary(1)|urinary_tract(2)	6	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				GGGAGGCCGGAGAGCTCGGGG	0.771													-	43919413	A	-	43919413	7	5	780	1	0	1	0	1	0	0	0	0	7526	304	11	0	813	0	HYI	1	43919413	Frame_Shift_Del	DEL	A	TCGA-VM-A8CD-01A-11D-A36O-08		43919413	205331208	1	57809											
CFH	3075	broad.mit.edu	37	chr1	196654268	196654268	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttaaacacagaactggagatGaaatcacgtaccagtgtaga	17	8	9	7	1	1	4	1	1	0	3	1	5	1	4	1	1	3	2	1	1	6	3			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr1:196654268G>A	ENST00000367429.4	+	7	1105	c.865G>A	c.(865-867)Gaa>Aaa	p.E289K	CFH_ENST00000439155.2_Missense_Mutation_p.E289K|CFH_ENST00000359637.2_Missense_Mutation_p.E225K	NM_000186.3	NP_000177.2	P08603	CFAH_HUMAN	complement factor H	289	Sushi 5.				complement activation, alternative pathway	extracellular space				NS(3)|breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(24)|lung(33)|ovary(1)|prostate(5)|skin(9)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	101						AACTGGAGATGAAATCACGTA	0.388													A	196654268	G	A	196654268	3	1	780	1	0	0	0	0	1	0	0	0	3313	1291	45	2	891	2	CFH	1	196654268	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	152734855	196654268	52596353	2	57810											
CAPG	822	broad.mit.edu	37	chr2	85622055	85622055	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aattgcttgaagatgggactCtcatggccctgaggcagaat	11	10	12	8	0	1	4	1	2	1	2	2	5	1	5	1	3	1	2	1	3	3	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:85622055C>G	ENST00000263867.4	-	10	1257	c.1008G>C	c.(1006-1008)gaG>gaC	p.E336D	CAPG_ENST00000409921.1_Missense_Mutation_p.E321D|CAPG_ENST00000409670.1_Missense_Mutation_p.E336D|CAPG_ENST00000409724.1_Missense_Mutation_p.E336D	NM_001256140.1|NM_001747.3	NP_001243069.1|NP_001738.2	P40121	CAPG_HUMAN	capping protein (actin filament), gelsolin-like	336					barbed-end actin filament capping|protein complex assembly	F-actin capping protein complex|melanosome|nuclear membrane|nucleolus	actin binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(6)	11						AGATGGGACTCTCATGGCCCT	0.597													G	85622055	C	G	85622055	3	3	780	1	0	0	0	0	1	0	0	0	2647	912	32	4	42	4	CAPG	2	85622055	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		85622055	157577318	3	57811											
HOXD4	3233	broad.mit.edu	37	chr2	177017669	177017669	+	Nonstop_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cacggacctgacgaccttatAgaagtggggaccctgggccc	9	6	13	13	2	0	2	0	1	0	1	0	5	0	4	4	4	0	0	4	4	3	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr2:177017669A>G	ENST00000306324.3	+	2	1179	c.767A>G	c.(766-768)tAg>tGg	p.*256W	HOXD3_ENST00000468418.3_5'UTR	NM_014621.2	NP_055436.2	P09016	HXD4_HUMAN	homeobox D4	0						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			kidney(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	9			OV - Ovarian serous cystadenocarcinoma(117;0.00765)|Epithelial(96;0.105)	Colorectal(32;0.0224)|READ - Rectum adenocarcinoma(9;0.0556)		ACGACCTTATAGAAGTGGGGA	0.632													G	177017669	A	G	177017669	4	3	780	1	0	0	0	0	0	0	0	0	7379	433	15	3	773	3	HOXD4	2	177017669	Nonstop_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08	91395614	177017669	66181704	4	57812											
PLXNB1	5364	broad.mit.edu	37	chr3	48454246	48454246	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctcaggcacacccaggtcccGgtgcaagggcgactcgcggt	7	5	14	15	4	1	0	1	0	0	0	3	1	2	0	2	5	1	2	2	5	1	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:48454246G>A	ENST00000358536.4	-	25	5028	c.4759C>T	c.(4759-4761)Cgg>Tgg	p.R1587W	PLXNB1_ENST00000358459.4_Missense_Mutation_p.R1404W|PLXNB1_ENST00000456774.1_Missense_Mutation_p.R1404W|PLXNB1_ENST00000296440.6_Missense_Mutation_p.R1587W|PLXNB1_ENST00000448774.2_Missense_Mutation_p.R198W	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1587					axon guidance|cell migration|intracellular signal transduction|regulation of cell shape|regulation of cytoskeleton organization|regulation of small GTPase mediated signal transduction|semaphorin-plexin signaling pathway	extracellular region|integral to plasma membrane|intracellular|semaphorin receptor complex	GTPase activator activity|semaphorin receptor activity|semaphorin receptor binding			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CCCAGGTCCCGGTGCAAGGGC	0.622													A	48454246	G	A	48454246	3	1	780	1	0	0	0	0	1	0	0	0	12200	1115	39	1	1704	1	PLXNB1	3	48454246	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		48454246	149568184	5	57813											
POLQ	10721	broad.mit.edu	37	chr3	121154999	121154999	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actttggagcataccctctcGatgaccatgggatttgaagg	10	11	11	9	1	1	2	0	2	1	0	2	5	1	4	2	3	2	1	2	3	2	3	rs147692745	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr3:121154999G>T	ENST00000264233.5	-	28	7641	c.7513C>A	c.(7513-7515)Cga>Aga	p.R2505R		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	2505					DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		ATACCCTCTCGATGACCATGG	0.403								DNA polymerases (catalytic subunits)					T	121154999	G	T	121154999	2	4	780	1	0	0	0	0	0	0	0	1	12285	1066	37	4		4	POLQ	3	121154999	Silent	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	72700753	121154999	76867431	6	57814											
ANK2	287	broad.mit.edu	37	chr4	114274342	114274342	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aatgaccgccatcttgaccaCagatgtgtctgataaggcag	12	9	10	10	1	2	4	0	3	2	1	2	4	2	4	3	1	0	1	3	1	2	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr4:114274342C>T	ENST00000357077.4	+	38	4621	c.4568C>T	c.(4567-4569)aCa>aTa	p.T1523I	ANK2_ENST00000510275.2_Intron|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000509550.1_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.T1490I|ANK2_ENST00000394537.3_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1490					axon guidance|signal transduction	apical plasma membrane|basolateral plasma membrane|cytoskeleton|cytosol|sarcomere	protein binding			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ATCTTGACCACAGATGTGTCT	0.443													T	114274342	C	T	114274342	3	4	780	1	0	0	0	0	1	0	0	0	621	478	17	2	4783	2	ANK2	4	114274342	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		114274342	76879934	7	57815											
MCTP1	79772	broad.mit.edu	37	chr5	94044279	94044279	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttcattgttatcaattgcatAtggactccgaagcttttttg	9	18	7	7	1	2	0	2	0	0	0	3	2	3	1	1	1	2	3	1	1	4	8	rs141609728	byFrequency	TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr5:94044279A>G	ENST00000515393.1	-	22	2865	c.2866T>C	c.(2866-2868)Tat>Cat	p.Y956H	MCTP1_ENST00000505078.1_Missense_Mutation_p.Y472H|MCTP1_ENST00000429576.2_Missense_Mutation_p.Y649H|MCTP1_ENST00000312216.8_Missense_Mutation_p.Y735H|MCTP1_ENST00000514040.1_5'UTR|ANKRD32_ENST00000493934.1_Intron	NM_024717.4	NP_078993.4	Q6DN14	MCTP1_HUMAN	multiple C2 domains, transmembrane 1	956					calcium-mediated signaling	integral to membrane|membrane fraction	calcium ion binding			breast(1)|endometrium(3)|large_intestine(13)|liver(2)|lung(13)|ovary(2)|skin(4)|stomach(2)|urinary_tract(1)	41		all_cancers(142;1.68e-05)|all_epithelial(76;1.51e-07)|all_lung(232;0.0167)|Lung NSC(167;0.0207)|Ovarian(225;0.0218)|Colorectal(57;0.207)		all cancers(79;9.1e-17)		TCAATTGCATATGGACTCCGA	0.323													G	94044279	A	G	94044279	3	3	780	1	0	0	0	0	1	0	0	0	9475	449	16	3	141	3	MCTP1	5	94044279	Missense_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08		94044279	86870981	8	57816											
NCR3	259197	broad.mit.edu	37	chr6	31556919	31556919	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggggcgctgggaccacagcCggcagctgccttcttggacc	6	6	15	14	2	1	0	0	0	1	0	1	2	1	2	4	5	3	3	4	5	0	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr6:31556919C>T	ENST00000340027.5	-	4	794	c.531G>A	c.(529-531)ccG>ccA	p.P177P	NCR3_ENST00000491161.1_5'UTR|NCR3_ENST00000376073.4_3'UTR	NM_147130.2	NP_667341.1	O14931	NCTR3_HUMAN	natural cytotoxicity triggering receptor 3	177					cell recognition|immune response|inflammatory response|positive regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane	receptor activity			cervix(1)|large_intestine(2)|liver(1)|lung(2)|ovary(1)|skin(2)	9						GGACCACAGCCGGCAGCTGCC	0.582													T	31556919	C	T	31556919	2	4	780	1	0	0	0	0	0	0	0	1	10315	639	23	1		1	NCR3	6	31556919	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		31556919	139558148	9	57817											
EGFR	1956	broad.mit.edu	37	chr7	55232997	55232997	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagacaactgtatccagtgtGcccactacattgacggcccc	10	8	8	15	1	0	2	0	1	0	1	1	2	1	2	4	1	3	1	4	1	3	3			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55232997G>T	ENST00000275493.2	+	15	1924	c.1747G>T	c.(1747-1749)Gcc>Tcc	p.A583S	EGFR_ENST00000455089.1_Missense_Mutation_p.A538S|EGFR_ENST00000342916.3_Missense_Mutation_p.A583S|EGFR_ENST00000344576.2_Missense_Mutation_p.A583S|EGFR_ENST00000442591.1_Missense_Mutation_p.A583S|EGFR_ENST00000454757.2_Missense_Mutation_p.A530S	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	583					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TATCCAGTGTGCCCACTACAT	0.498		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55232997	G	T	55232997	3	4	780	1	0	0	0	0	1	0	0	0	5006	1319	46	4	1816	4	EGFR	7	55232997	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		55232997	103905666	10	57818			1	98		2	2	47	G		4.903494e-05
EGFR	1956	broad.mit.edu	37	chr7	55233043	55233043	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cgtcaagacctgcccggcagGagtcatgggagaaaacaaca	14	4	12	11	2	2	2	2	0	0	2	2	4	2	3	2	3	3	1	2	3	4	0	rs139236063		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:55233043G>T	ENST00000275493.2	+	15	1970	c.1793G>T	c.(1792-1794)gGa>gTa	p.G598V	EGFR_ENST00000455089.1_Missense_Mutation_p.G553V|EGFR_ENST00000342916.3_Missense_Mutation_p.G598V|EGFR_ENST00000344576.2_Missense_Mutation_p.G598V|EGFR_ENST00000442591.1_Missense_Mutation_p.G598V|EGFR_ENST00000454757.2_Missense_Mutation_p.G545V	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	598					activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	p.G598V(15)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)	TGCCCGGCAGGAGTCATGGGA	0.567		8	"A, O, Mis"		"glioma, NSCLC"	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)			T	55233043	G	T	55233043	3	4	780	1	0	0	0	0	1	0	0	0	5006	1174	41	4	1862	4	EGFR	7	55233043	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08	46	55233043	103905620	11	57819			1	98		2	2	47	G		4.903494e-05
STEAP1	26872	broad.mit.edu	37	chr7	89790581	89790581	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	caatttatagtctgtcttacCcaatgaggcgatcctacaga	12	12	7	10	1	2	2	0	1	2	1	3	3	3	2	2	1	2	0	2	1	6	5			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:89790581C>G	ENST00000297205.2	+	3	747	c.547C>G	c.(547-549)Cca>Gca	p.P183A	STEAP2-AS1_ENST00000478318.2_RNA	NM_012449.2	NP_036581.1	Q9UHE8	STEA1_HUMAN	six transmembrane epithelial antigen of the prostate 1	183	Ferric oxidoreductase.				electron transport chain|ion transport|iron ion homeostasis	cell-cell junction|endosome membrane|integral to plasma membrane	channel activity|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|oxidoreductase activity			kidney(2)|large_intestine(3)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	14	all_hematologic(106;0.112)					TCTGTCTTACCCAATGAGGCG	0.388													G	89790581	C	G	89790581	3	3	780	1	0	0	0	0	1	0	0	0	15373	623	22	4	553	4	STEAP1	7	89790581	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	34557538	89790581	69348082	12	57820											
CUX1	1523	broad.mit.edu	37	chr7	101671400	101671400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgcgcaagcaggtagcgcCgctgctgaagagtttccaag	9	9	13	10	3	0	2	0	1	0	1	1	2	1	2	2	1	4	6	2	1	4	3			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr7:101671400C>T	ENST00000360264.3	+	3	217	c.197C>T	c.(196-198)cCg>cTg	p.P66L	CUX1_ENST00000393824.3_Missense_Mutation_p.P29L|CUX1_ENST00000437600.4_Missense_Mutation_p.P66L|CUX1_ENST00000292535.7_Missense_Mutation_p.P55L|CUX1_ENST00000425244.2_Missense_Mutation_p.P66L|CUX1_ENST00000560541.1_3'UTR|CUX1_ENST00000550008.2_Missense_Mutation_p.P55L|CUX1_ENST00000556210.1_Missense_Mutation_p.P55L|CUX1_ENST00000546411.2_Missense_Mutation_p.P55L|CUX1_ENST00000292538.4_Missense_Mutation_p.P66L|CUX1_ENST00000547394.2_Intron|CUX1_ENST00000549414.2_Missense_Mutation_p.P55L	NM_001202543.1	NP_001189472.1	P39880	CUX1_HUMAN	cut-like homeobox 1	55					negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(3)|large_intestine(8)|lung(26)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|stomach(1)|urinary_tract(5)	70						CAGGTAGCGCCGCTGCTGAAG	0.463													T	101671400	C	T	101671400	3	4	780	1	0	0	0	0	1	0	0	0	4097	652	23	1	241	1	CUX1	7	101671400	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	11880819	101671400	57467263	13	57821											
STAR	6770	broad.mit.edu	37	chr8	38006211	38006211	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atccacgtgctaggggtgggGccccccagggccctccggtt	4	7	15	15	2	0	0	0	0	0	0	2	0	2	0	6	6	1	2	6	6	1	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr8:38006211G>A	ENST00000276449.4	-	2	572	c.126C>T	c.(124-126)ggC>ggT	p.G42G		NM_000349.2	NP_000340.2	P49675	STAR_HUMAN	steroidogenic acute regulatory protein	42					C21-steroid hormone biosynthetic process	mitochondrial intermembrane space	cholesterol transporter activity	p.T44fs*3(1)		breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11	Colorectal(12;0.000442)	all_lung(54;0.0151)|Lung NSC(58;0.0295)		READ - Rectum adenocarcinoma(644;0.188)		TAGGGGTGGGGCCCCCCAGGG	0.627													A	38006211	G	A	38006211	2	1	780	1	0	0	0	0	0	0	0	1	15350	1190	42	2		2	STAR	8	38006211	Silent	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		38006211	108357811	14	57822											
ROR2	4920	broad.mit.edu	37	chr9	94486078	94486078	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgggccccatcttctggggCgttctgtgtgtcatcagcgc	3	12	13	13	2	5	0	2	0	3	0	5	0	5	0	2	3	1	1	2	3	0	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr9:94486078C>T	ENST00000375708.3	-	9	2896	c.2698G>A	c.(2698-2700)Gcc>Acc	p.A900T	ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	900					negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						TCTTCTGGGGCGTTCTGTGTG	0.632													T	94486078	C	T	94486078	3	4	780	1	0	0	0	0	1	0	0	0	13618	768	27	1	137	1	ROR2	9	94486078	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		94486078	46727353	15	57823											
PTEN	5728	broad.mit.edu	37	chr10	89692911	89692911	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	agctggaaagggacgaactgGtgtaatgatatgtgcatatt	13	11	13	4	1	0	1	0	1	0	0	0	4	0	3	0	3	3	3	0	3	5	4	rs121909241		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:89692911G>A	ENST00000371953.3	+	5	1752	c.395G>A	c.(394-396)gGt>gAt	p.G132D		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	132	Phosphatase tensin-type.		G -> V (in one patient with clinical findings suggesting hamartoma tumor syndrome).		activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G132D(4)|p.Y27fs*1(2)|p.G132V(1)|p.A121_F145del(1)|p.R130fs*2(1)|p.T131fs*42(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGACGAACTGGTGTAATGATA	0.398		31	"D, Mis, N, F, S"		"glioma,  prostate, endometrial"	"harmartoma, glioma,  prostate, endometrial"			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)			A	89692911	G	A	89692911	3	1	780	1	0	0	0	0	1	0	0	0	12823	1261	44	2	413	2	PTEN	10	89692911	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		89692911	45841836	16	57824											
XPNPEP1	7511	broad.mit.edu	37	chr10	111637761	111637761	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccaaatggatccttacctgCgaaactcctcagctttgtca	10	11	6	14	1	2	0	2	0	0	0	4	2	4	1	4	1	4	1	4	1	3	2			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr10:111637761C>T	ENST00000502935.1	-	13	1357	c.1238G>A	c.(1237-1239)cGc>cAc	p.R413H	XPNPEP1_ENST00000369683.1_Missense_Mutation_p.R299H|XPNPEP1_ENST00000322238.8_Missense_Mutation_p.R413H|XPNPEP1_ENST00000369680.4_Missense_Mutation_p.R370H			Q9NQW7	XPP1_HUMAN	X-prolyl aminopeptidase (aminopeptidase P) 1, soluble	370					bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	p.R370H(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		TCCTTACCTGCGAAACTCCTC	0.463													T	111637761	C	T	111637761	3	4	780	1	0	0	0	0	1	0	0	0	17544	768	27	1	798	1	XPNPEP1	10	111637761	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	21944850	111637761	23896986	17	57825											
CDHR5	53841	broad.mit.edu	37	chr11	618738	618738	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcatcggctgagaggttccTgcctctggggtctgtgctgt	3	12	16	10	1	2	1	0	1	2	1	4	2	3	1	2	5	2	4	2	5	0	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:618738T>C	ENST00000358353.3	-	14	2143	c.1821A>G	c.(1819-1821)gcA>gcG	p.A607A	CDHR5_ENST00000397542.2_Silent_p.A607A|CDHR5_ENST00000349570.7_Intron			Q9HBB8	CDHR5_HUMAN	cadherin-related family member 5	607	4 X 31 AA approximate tandem repeats.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(1)|breast(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	23						GAGAGGTTCCTGCCTCTGGGG	0.662													C	618738	T	C	618738	2	2	780	1	0	0	0	0	0	0	0	1	3152	1567	55	3		3	CDHR5	11	618738	Silent	SNP	T	TCGA-VM-A8CD-01A-11D-A36O-08		618738	134387778	18	57826											
SPTBN2	6712	broad.mit.edu	37	chr11	66455772	66455772	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttctctttcgctccttctccCgctcctctagctgtcaaaaa	6	15	4	16	2	4	0	1	0	3	0	9	0	6	0	3	0	1	3	3	0	3	4			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr11:66455772C>T	ENST00000533211.1	-	32	6573	c.6242G>A	c.(6241-6243)cGg>cAg	p.R2081Q	SPTBN2_ENST00000529997.1_Missense_Mutation_p.R2081Q|SPTBN2_ENST00000309996.2_Missense_Mutation_p.R2081Q			O15020	SPTN2_HUMAN	spectrin, beta, non-erythrocytic 2	2081					actin filament capping|axon guidance|cell death|vesicle-mediated transport	cytosol|spectrin	actin binding|structural constituent of cytoskeleton			autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(1)|endometrium(10)|kidney(5)|large_intestine(15)|liver(1)|lung(22)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	74						ctccttctcccgctccTCTAG	0.567													T	66455772	C	T	66455772	3	4	780	1	0	0	0	0	1	0	0	0	15216	652	23	1	958	1	SPTBN2	11	66455772	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	65837034	66455772	68550744	19	57827											
LYRM5	144363	broad.mit.edu	37	chr12	25357118	25357118	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	aaaacaaagatgtgaagaatCcagagaagatcaaagaactt	22	6	8	5	0	1	6	1	1	0	5	2	7	2	6	1	0	2	0	1	0	8	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:25357118C>A	ENST00000557540.2	+	3	308	c.139C>A	c.(139-141)Cca>Aca	p.P47T	LYRM5_ENST00000556927.1_Missense_Mutation_p.P47T|LYRM5_ENST00000556402.1_3'UTR|LYRM5_ENST00000556351.1_Missense_Mutation_p.P47T|LYRM5_ENST00000381356.4_Missense_Mutation_p.P49T|LYRM5_ENST00000556885.1_Missense_Mutation_p.P47T|LYRM5_ENST00000555711.1_3'UTR|LYRM5_ENST00000553788.1_Intron			Q6IPR1	LYRM5_HUMAN	LYR motif containing 5	47										large_intestine(3)	3	all_cancers(2;4.75e-35)|all_epithelial(2;1.91e-37)|all_lung(3;1.07e-23)|Lung NSC(3;5.49e-23)|Acute lymphoblastic leukemia(6;0.00112)|all_hematologic(7;0.0016)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;2.21e-21)|Epithelial(3;8.04e-19)|all cancers(3;2.26e-16)|STAD - Stomach adenocarcinoma(2;0.00138)			TGTGAAGAATCCAGAGAAGAT	0.363													A	25357118	C	A	25357118	3	1	780	1	0	0	0	0	1	0	0	0	9193	855	30	4	151	4	LYRM5	12	25357118	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		25357118	108494777	20	57828											
RPAP3	79657	broad.mit.edu	37	chr12	48063934	48063934	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttctattttcaatactttTgctcttggagtatcacttgt	7	21	5	8	0	5	0	2	0	3	0	5	1	5	1	0	1	2	2	0	1	4	10			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr12:48063934T>C	ENST00000005386.3	-	13	1597	c.1482A>G	c.(1480-1482)gcA>gcG	p.A494A	RPAP3_ENST00000380650.4_Silent_p.A460A|RPAP3_ENST00000432584.3_Silent_p.A335A	NM_024604.2	NP_078880.2	Q9H6T3	RPAP3_HUMAN	RNA polymerase II associated protein 3	494							binding			endometrium(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16	Lung SC(27;0.192)					TCAATACTTTTGCTCTTGGAG	0.383													C	48063934	T	C	48063934	2	2	780	1	0	0	0	0	0	0	0	1	13634	1799	63	3		3	RPAP3	12	48063934	Silent	SNP	T	TCGA-VM-A8CD-01A-11D-A36O-08	22706816	48063934	85787961	21	57829											
NPAS3	64067	broad.mit.edu	37	chr14	34243682	34243682	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaagtcagaattgactgccAtatgttcgtcactcgagtaa	12	12	9	8	2	2	3	2	2	0	1	4	4	2	3	1	0	1	2	1	0	4	4			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr14:34243682A>C	ENST00000346562.2	+	7	970	c.896A>C	c.(895-897)cAt>cCt	p.H299P	NPAS3_ENST00000357798.5_Missense_Mutation_p.H318P|NPAS3_ENST00000548645.1_Missense_Mutation_p.H301P|NPAS3_ENST00000356141.4_Missense_Mutation_p.H331P|NPAS3_ENST00000551492.1_Missense_Mutation_p.H336P	NM_001164749.1|NM_001165893.1|NM_022123.2|NM_173159.2	NP_001158221.1|NP_001159365.1|NP_071406.1|NP_775182.1	Q8IXF0	NPAS3_HUMAN	neuronal PAS domain protein 3	331					regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|signal transducer activity			breast(4)|endometrium(3)|kidney(1)|large_intestine(6)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	40	Breast(36;0.0102)|Hepatocellular(127;0.133)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00968)	GBM - Glioblastoma multiforme(1;1.31e-09)|all cancers(1;0.000112)|OV - Ovarian serous cystadenocarcinoma(311;0.115)		ATTGACTGCCATATGTTCGTC	0.468													C	34243682	A	C	34243682	3	2	780	1	0	0	0	0	1	0	0	0	10640	217	8	5	1077	5	NPAS3	14	34243682	Missense_Mutation	SNP	A	TCGA-VM-A8CD-01A-11D-A36O-08		34243682	73105858	22	57830											
NDNL2	56160	broad.mit.edu	37	chr15	29561310	29561310	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acccctaagcgccgcagaaaGtcccaggcttcagtttcctt	9	9	8	15	2	1	1	1	0	0	1	3	1	3	1	5	1	1	3	5	1	2	4			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:29561310G>C	ENST00000332303.4	-	1	723	c.600C>G	c.(598-600)gaC>gaG	p.D200E	FAM189A1_ENST00000261275.4_Intron	NM_138704.3	NP_619649.1	Q96MG7	MAGG1_HUMAN	necdin-like 2	200	MAGE.				regulation of growth	cytoplasm|nucleus				breast(3)|large_intestine(2)|lung(3)	8		all_lung(180;4.69e-11)|Breast(32;0.0013)		all cancers(64;8.37e-11)|Epithelial(43;9.29e-10)|BRCA - Breast invasive adenocarcinoma(123;0.00736)|GBM - Glioblastoma multiforme(186;0.018)|Lung(196;0.153)		GCCGCAGAAAGTCCCAGGCTT	0.517													C	29561310	G	C	29561310	3	2	780	1	0	0	0	0	1	0	0	0	10324	1020	36	4	318	4	NDNL2	15	29561310	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		29561310	72970082	23	57831											
AKAP13	11214	broad.mit.edu	37	chr15	86287023	86287025	+	In_Frame_Del	DEL	AAG	AAG	-																															aggaaaagaaggagaaaaaaAagaagaacaaaaccagccgc																										TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr15:86287023_86287025delAAG	ENST00000394518.2	+	36	8454_8456	c.8359_8361delAAG	c.(8359-8361)aagdel	p.K2788del	AKAP13_ENST00000361243.2_In_Frame_Del_p.K2792del|AKAP13_ENST00000394510.2_In_Frame_Del_p.K1033del|AKAP13_ENST00000560579.1_3'UTR	NM_001270546.1|NM_007200.4	NP_001257475.1|NP_009131.2	Q12802	AKP13_HUMAN	A kinase (PRKA) anchor protein 13	2788	Interaction with ESR1.|Poly-Lys.				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane|membrane fraction|nucleus	cAMP-dependent protein kinase activity|metal ion binding|protein binding|Rho guanyl-nucleotide exchange factor activity|signal transducer activity			NS(1)|breast(2)|central_nervous_system(4)|endometrium(12)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(13)|liver(1)|lung(43)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	98						GGAGAAAAAAAAGAAGAACAAAA	0.527													-	86287025	AAG	-	86287023	7	5	780	1	0	1	0	1	0	0	0	0	449	15	1	0	8567	0	AKAP13	15	86287023	In_Frame_Del	DEL	AAG	TCGA-VM-A8CD-01A-11D-A36O-08	56725713	86287023	16244369	24	57832											
CACNG3	10368	broad.mit.edu	37	chr16	24373179	24373179	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaacaggcgcaccacgcccGtctgaactgacctctgacct	9	6	8	18	3	2	3	0	3	2	0	2	3	2	3	5	1	2	1	5	1	2	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr16:24373179G>A	ENST00000005284.3	+	4	2145	c.943G>A	c.(943-945)Gtc>Atc	p.V315I		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	315					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	p.V315I(2)		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)		CACCACGCCCGTCTGAACTGA	0.552													A	24373179	G	A	24373179	3	1	780	1	0	0	0	0	1	0	0	0	2584	1145	40	1	957	1	CACNG3	16	24373179	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		24373179	65981574	25	57833											
MYH1	4619	broad.mit.edu	37	chr17	10419305	10419305	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtggggtggggcctcctggCgctttttgcctcggtaggct	1	13	17	10	2	0	0	0	0	0	0	2	0	1	0	3	7	1	3	3	7	1	3			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:10419305C>T	ENST00000226207.5	-	5	537	c.443G>A	c.(442-444)cGc>cAc	p.R148H	RP11-799N11.1_ENST00000581304.1_RNA|RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	148	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	p.R148H(1)		NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						GGCCTCCTGGCGCTTTTTGCC	0.502													T	10419305	C	T	10419305	3	4	780	1	0	0	0	0	1	0	0	0	10105	768	27	1	5520	1	MYH1	17	10419305	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		10419305	70775905	26	57834											
NF1	4763	broad.mit.edu	37	chr17	29486037	29486037	+	Frame_Shift_Del	DEL	G	G	-																															ttttctgttagagaatatttGgagaagctgctgaaaaaaat																										TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:29486037delG	ENST00000358273.4	+	3	597	c.214delG	c.(214-216)ggafs	p.G72fs	NF1_ENST00000356175.3_Frame_Shift_Del_p.G72fs|NF1_ENST00000431387.4_Frame_Shift_Del_p.G72fs	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	72					actin cytoskeleton organization|adrenal gland development|artery morphogenesis|camera-type eye morphogenesis|cerebral cortex development|collagen fibril organization|forebrain astrocyte development|forebrain morphogenesis|heart development|liver development|MAPKKK cascade|metanephros development|myelination in peripheral nervous system|negative regulation of cell migration|negative regulation of endothelial cell proliferation|negative regulation of MAP kinase activity|negative regulation of MAPKKK cascade|negative regulation of neuroblast proliferation|negative regulation of oligodendrocyte differentiation|negative regulation of transcription factor import into nucleus|osteoblast differentiation|phosphatidylinositol 3-kinase cascade|pigmentation|positive regulation of adenylate cyclase activity|positive regulation of neuron apoptosis|Ras protein signal transduction|regulation of blood vessel endothelial cell migration|regulation of bone resorption|response to hypoxia|smooth muscle tissue development|spinal cord development|sympathetic nervous system development|visual learning|wound healing	axon|cytoplasm|dendrite|intrinsic to internal side of plasma membrane|nucleus	protein binding|Ras GTPase activator activity	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		GAGAATATTTGGAGAAGCTGC	0.318			"D, Mis, N, F, S, O"		"neurofibroma, glioma"	"neurofibroma, glioma"			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)			-	29486037	G	-	29486037	7	5	780	1	0	1	0	1	0	0	0	0	10432	1349	47	0	224	0	NF1	17	29486037	Frame_Shift_Del	DEL	G	TCGA-VM-A8CD-01A-11D-A36O-08	19066732	29486037	51709173	27	57835											
SPATA20	64847	broad.mit.edu	37	chr17	48631681	48631681	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctccggctgcatggcttcaCgggccacaaggactggatgg	7	7	15	12	2	1	0	1	0	0	0	2	2	2	2	2	6	1	4	2	6	1	1	rs147500920		TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:48631681C>T	ENST00000006658.6	+	15	2147	c.2027C>T	c.(2026-2028)aCg>aTg	p.T676M	SPATA20_ENST00000356488.4_Missense_Mutation_p.T660M|SPATA20_ENST00000393244.3_Missense_Mutation_p.T616M|SPATA20_ENST00000511937.1_3'UTR	NM_022827.3	NP_073738.2	Q8TB22	SPT20_HUMAN	spermatogenesis associated 20	660					cell differentiation|mannose metabolic process|multicellular organismal development|spermatogenesis	extracellular region	mannose-6-phosphate isomerase activity|protein binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;9.38e-09)			CATGGCTTCACGGGCCACAAG	0.642													T	48631681	C	T	48631681	3	4	780	1	0	0	0	0	1	0	0	0	15102	536	19	1	2085	1	SPATA20	17	48631681	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	19145644	48631681	32563529	28	57836											
LLGL2	3993	broad.mit.edu	37	chr17	73566103	73566103	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gctgtggagcaggtggaggcCgacctgctgcaggaccaaga	9	5	17	10	1	0	1	0	0	0	1	0	5	0	4	3	5	3	4	3	5	1	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr17:73566103C>T	ENST00000392550.3	+	15	1758	c.1641C>T	c.(1639-1641)gcC>gcT	p.A547A	LLGL2_ENST00000577200.1_Silent_p.A547A|LLGL2_ENST00000167462.5_Silent_p.A547A	NM_001031803.1	NP_001026973.1	Q6P1M3	L2GL2_HUMAN	lethal giant larvae homolog 2 (Drosophila)	547					cell cycle|cell division|exocytosis|regulation of establishment or maintenance of cell polarity	cytoplasm|intracellular membrane-bounded organelle	PDZ domain binding			NS(1)|breast(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	all_cancers(13;3.15e-09)|all_epithelial(9;5.78e-10)|Breast(9;5.8e-10)|all_lung(278;0.246)		all cancers(21;1.8e-07)|Epithelial(20;1.38e-06)|Lung(188;0.0696)|LUSC - Lung squamous cell carcinoma(166;0.112)			AGGTGGAGGCCGACCTGCTGC	0.667													T	73566103	C	T	73566103	2	4	780	1	0	0	0	0	0	0	0	1	8895	639	23	1		1	LLGL2	17	73566103	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08	24934422	73566103	7629107	29	57837											
PTPRM	5797	broad.mit.edu	37	chr18	8394606	8394606	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	aagcccaacatggtcgacctCctggtaggacaccccctctg	9	7	9	16	1	1	0	0	0	1	0	3	2	2	1	5	3	2	1	5	3	3	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr18:8394606C>G	ENST00000332175.8	+	30	5339	c.4302C>G	c.(4300-4302)ctC>ctG	p.L1434L	PTPRM_ENST00000400053.4_Silent_p.L1372L|PTPRM_ENST00000444013.1_Silent_p.L1221L|PTPRM_ENST00000400060.4_Silent_p.L1448L|PTPRM_ENST00000580170.1_Silent_p.L1447L	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	1434	Tyrosine-protein phosphatase 2.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TGGTCGACCTCCTGGTAGGAC	0.527													G	8394606	C	G	8394606	2	3	780	1	0	0	0	0	0	0	0	1	12894	842	30	4		4	PTPRM	18	8394606	Silent	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		8394606	69682642	30	57838											
NR1H2	7376	broad.mit.edu	37	chr19	50882296	50882296	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	agacccccagtcccgagatgCccgccagcaacgctttgccc	8	5	9	19	3	0	2	0	0	0	2	1	3	1	2	6	0	4	2	6	0	1	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr19:50882296C>T	ENST00000253727.5	+	7	1020	c.785C>T	c.(784-786)gCc>gTc	p.A262V	NR1H2_ENST00000542413.1_Intron|NR1H2_ENST00000599105.1_Intron|NR1H2_ENST00000593926.1_Missense_Mutation_p.A262V|NR1H2_ENST00000598168.1_Intron|NR1H2_ENST00000411902.2_Missense_Mutation_p.A165V	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	262	Ligand-binding (Potential).				negative regulation of cholesterol storage|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of pinocytosis|negative regulation of transcription, DNA-dependent|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	cytoplasm|nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		TCCCGAGATGCCCGCCAGCAA	0.632													T	50882296	C	T	50882296	3	4	780	1	0	0	0	0	1	0	0	0	10693	739	26	2	803	2	NR1H2	19	50882296	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		50882296	8246687	31	57839											
ZNFX1	57169	broad.mit.edu	37	chr20	47870232	47870232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccccaatcaaaatgaggtGctggcaagctttgctcaatg	11	10	10	10	0	2	1	2	1	0	0	3	1	3	1	2	2	3	4	2	2	5	1			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr20:47870232G>A	ENST00000396105.1	-	11	3322	c.3076C>T	c.(3076-3078)Cac>Tac	p.H1026Y	ZNFX1_ENST00000371754.4_Missense_Mutation_p.H1026Y|ZNFX1_ENST00000371752.1_Missense_Mutation_p.H1026Y	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	1026							metal ion binding			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AAAATGAGGTGCTGGCAAGCT	0.542													A	47870232	G	A	47870232	3	1	780	1	0	0	0	0	1	0	0	0	18304	1319	46	2	2696	2	ZNFX1	20	47870232	Missense_Mutation	SNP	G	TCGA-VM-A8CD-01A-11D-A36O-08		47870232	15155288	32	57840											
SON	6651	broad.mit.edu	37	chr21	34923110	34923110	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggatgacaacggtggaacatCctgggcatcctgaggtgaca	11	7	14	9	1	0	3	0	3	0	0	2	5	2	5	2	5	2	1	2	5	2	0			TCGA-VM-A8CD-01A-11D-A36O-08	TCGA-VM-A8CD-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7928b2cc-7548-4b85-9107-a5462d1858db	18237653-5da7-42cf-8d0d-a2ba91a7e5ec	g.chr21:34923110C>T	ENST00000356577.4	+	3	2048	c.1573C>T	c.(1573-1575)Cct>Tct	p.P525S	SON_ENST00000381692.2_Intron|SON_ENST00000290239.6_Missense_Mutation_p.P525S|SON_ENST00000300278.4_Missense_Mutation_p.P525S|SON_ENST00000381679.4_Missense_Mutation_p.P525S	NM_138927.1	NP_620305	P18583	SON_HUMAN	SON DNA binding protein	525					anti-apoptosis|cytokinesis|mRNA processing|regulation of cell cycle|regulation of RNA splicing|RNA splicing|spindle pole body separation	nuclear speck	DNA binding|double-stranded RNA binding			breast(3)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(25)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	72						GGTGGAACATCCTGGGCATCC	0.597													T	34923110	C	T	34923110	3	4	780	1	0	0	0	0	1	0	0	0	15020	855	30	2	1583	2	SON	21	34923110	Missense_Mutation	SNP	C	TCGA-VM-A8CD-01A-11D-A36O-08		34923110	13206785	33	57841											
SAP130	79595	broad.mit.edu	37	chr2	128744415	128744415	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgtggcgatgagccctgggcGggagcgttggtgctagcact	5	8	18	10	4	0	1	0	1	0	0	0	3	0	2	1	4	4	3	1	4	1	2			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:128744415G>C	ENST00000357702.5	-	14	2111	c.1980C>G	c.(1978-1980)ccC>ccG	p.P660P	SAP130_ENST00000259235.3_Silent_p.P660P|SAP130_ENST00000259234.6_Silent_p.P633P	NM_001145928.1	NP_001139400.1	Q9H0E3	SP130_HUMAN	Sin3A-associated protein, 130kDa	660					histone H3 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	STAGA complex	transcription coactivator activity			NS(4)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(2)	45	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0771)		AGCCCTGGGCGGGAGCGTTGG	0.572													C	128744415	G	C	128744415	2	2	781	1	0	0	0	0	0	0	0	1	13922	1103	39	4		4	SAP130	2	128744415	Silent	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		128744415	114454958	1	57842											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	781	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	80368697	209113112	34086261	2	57843											
PCDH10	57575	broad.mit.edu	37	chr4	134072585	134072585	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcgggggactcctacacCctgactgtagtggctcggga	7	7	16	11	2	0	1	0	1	0	0	2	4	1	3	2	5	1	2	2	5	2	2	rs140875995		TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr4:134072585C>A	ENST00000264360.5	+	1	2116	c.1290C>A	c.(1288-1290)acC>acA	p.T430T		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10		Cadherin 4.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		ACTCCTACACCCTGACTGTAG	0.587													A	134072585	C	A	134072585	2	1	781	1	0	0	0	0	0	0	0	1	11583	610	22	4		4	PCDH10	4	134072585	Silent	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		134072585	57081691	3	57844											
CMYA5	202333	broad.mit.edu	37	chr5	79029294	79029294	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agatgaggaaacagcaagttCatctcctgagttggaaaatt	15	10	10	6	0	2	3	1	2	1	1	3	5	2	5	1	2	2	3	1	2	4	3			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr5:79029294C>A	ENST00000446378.2	+	2	4737	c.4706C>A	c.(4705-4707)tCa>tAa	p.S1569*		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1569						perinuclear region of cytoplasm				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		ACAGCAAGTTCATCTCCTGAG	0.408													A	79029294	C	A	79029294	4	1	781	1	0	0	0	0	0	1	0	0	3621	838	29	4	4712	4	CMYA5	5	79029294	Nonsense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		79029294	101885966	4	57845											
MAP3K4	4216	broad.mit.edu	37	chr6	161530825	161530825	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	atggagtactgcgatgagggGactttagaagaggtgtcaag	12	9	16	4	1	1	3	1	1	0	2	1	6	1	5	0	4	2	1	0	4	4	3			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr6:161530825G>A	ENST00000392142.4	+	23	4423	c.4275G>A	c.(4273-4275)ggG>ggA	p.G1425G	MAP3K4_ENST00000366919.2_Silent_p.G1375G|MAP3K4_ENST00000366920.2_Silent_p.G1421G|MAP3K4_ENST00000348824.7_Silent_p.G1371G	NM_005922.2	NP_005913	Q9Y6R4	M3K4_HUMAN	mitogen-activated protein kinase kinase kinase 4	1425	Protein kinase.				activation of MAPKK activity|JNK cascade|positive regulation of JUN kinase activity	perinuclear region of cytoplasm	ATP binding|MAP kinase kinase kinase activity|metal ion binding|protein binding			breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|lung(28)|ovary(3)|skin(2)|stomach(1)	77		Breast(66;0.000776)|Ovarian(120;0.0367)|Prostate(117;0.0771)		OV - Ovarian serous cystadenocarcinoma(65;1.85e-18)|BRCA - Breast invasive adenocarcinoma(81;3.04e-05)		GCGATGAGGGGACTTTAGAAG	0.463													A	161530825	G	A	161530825	2	1	781	1	0	0	0	0	0	0	0	1	9327	1161	41	2		2	MAP3K4	6	161530825	Silent	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		161530825	9584242	5	57846											
TRPM6	140803	broad.mit.edu	37	chr9	77442828	77442828	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgttgagtgttgtgagcttgCtgagggggttatccagagtc	6	14	16	5	0	0	4	0	3	0	1	2	4	1	4	1	2	2	5	1	2	1	4			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:77442828C>T	ENST00000451710.3	-	7	944	c.707G>A	c.(706-708)aGc>aAc	p.S236N	TRPM6_ENST00000376871.3_Missense_Mutation_p.S236N|TRPM6_ENST00000376864.4_Missense_Mutation_p.S236N|TRPM6_ENST00000360774.1_Missense_Mutation_p.S236N|TRPM6_ENST00000376872.3_Missense_Mutation_p.S236N|TRPM6_ENST00000483186.1_5'UTR|TRPM6_ENST00000359047.2_Missense_Mutation_p.S236N|TRPM6_ENST00000361255.3_Missense_Mutation_p.S231N|TRPM6_ENST00000449912.2_Missense_Mutation_p.S231N			Q9BX84	TRPM6_HUMAN	transient receptor potential cation channel, subfamily M, member 6	236					response to toxin	integral to membrane	ATP binding|calcium channel activity|metal ion binding|protein binding|protein serine/threonine kinase activity			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|liver(1)|lung(53)|ovary(1)|prostate(7)|skin(12)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	126						TGTGAGCTTGCTGAGGGGGTT	0.537													T	77442828	C	T	77442828	3	4	781	1	0	0	0	0	1	0	0	0	16691	797	28	2	5493	2	TRPM6	9	77442828	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		77442828	63770603	6	57847											
SVEP1	79987	broad.mit.edu	37	chr9	113170819	113170819	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacagaggggccttgcaggAcatgcccttctttacaggaa	10	8	13	10	0	1	1	0	0	1	1	1	4	1	4	2	5	3	1	2	5	2	4			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr9:113170819A>G	ENST00000401783.2	-	38	7397	c.7061T>C	c.(7060-7062)gTc>gCc	p.V2354A	SVEP1_ENST00000297826.5_Missense_Mutation_p.V280A|SVEP1_ENST00000374469.1_Missense_Mutation_p.V2331A	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2354	Sushi 16.				cell adhesion	cytoplasm|extracellular region|membrane	calcium ion binding			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GCCTTGCAGGACATGCCCTTC	0.498													G	113170819	A	G	113170819	3	3	781	1	0	0	0	0	1	0	0	0	15516	275	10	3	3698	3	SVEP1	9	113170819	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08	35727991	113170819	28042612	7	57848											
DIP2C	22982	broad.mit.edu	37	chr10	436251	436251	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atctttaatgtgtgggaaccAgtctcggggcggtttggaga	8	12	15	6	2	2	1	0	0	2	1	3	3	2	2	1	5	1	1	1	5	2	3			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr10:436251A>T	ENST00000280886.6	-	12	1534	c.1447T>A	c.(1447-1449)Tgg>Agg	p.W483R	DIP2C_ENST00000381496.3_Missense_Mutation_p.W376R	NM_014974.2	NP_055789.1	Q9Y2E4	DIP2C_HUMAN	DIP2 disco-interacting protein 2 homolog C (Drosophila)	483						nucleus	catalytic activity|transcription factor binding			breast(8)|endometrium(6)|kidney(10)|large_intestine(13)|lung(26)|ovary(3)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	81		all_cancers(4;0.00336)|all_lung(4;0.00732)|Lung NSC(4;0.00785)|all_epithelial(10;0.0159)|Colorectal(49;0.235)	OV - Ovarian serous cystadenocarcinoma(33;0.136)	Epithelial(11;0.0123)|all cancers(11;0.0467)|Lung(33;0.0864)|OV - Ovarian serous cystadenocarcinoma(14;0.106)		TGTGGGAACCAGTCTCGGGGC	0.483													T	436251	A	T	436251	3	4	781	1	0	0	0	0	1	0	0	0	4568	188	7	5	3327	5	DIP2C	10	436251	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08		436251	135098496	8	57849											
OR5M1	390168	broad.mit.edu	37	chr11	56380102	56380102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aaggattacatctgtgttccGtaggctatagatcaatgggt	11	13	11	6	1	2	1	1	0	1	1	3	2	3	2	1	3	1	3	1	3	6	5			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:56380102G>A	ENST00000526538.1	-	1	876	c.877C>T	c.(877-879)Cgg>Tgg	p.R293W		NM_001004740.1	NP_001004740.1	Q8NGP8	OR5M1_HUMAN	olfactory receptor, family 5, subfamily M, member 1	293					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|upper_aerodigestive_tract(1)	12						TCTGTGTTCCGTAGGCTATAG	0.403													A	56380102	G	A	56380102	3	1	781	1	0	0	0	0	1	0	0	0	11248	1144	40	1	74	1	OR5M1	11	56380102	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		56380102	78626414	9	57850											
EI24	9538	broad.mit.edu	37	chr11	125453434	125453434	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agtctcttccagttgcgcctCttctccttggtggtcttctt	2	18	8	13	1	5	0	0	0	5	0	8	0	6	0	3	2	1	1	3	2	0	6			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr11:125453434C>G	ENST00000343678.4	+	11	1006	c.764C>G	c.(763-765)tCt>tGt	p.S255C	STT3A-AS1_ENST00000532714.1_RNA|EI24_ENST00000278903.6_Silent_p.L292L|STT3A-AS1_ENST00000530526.1_RNA|EI24_ENST00000530985.1_3'UTR	NM_001007277.1	NP_001007278.1	O14681	EI24_HUMAN	etoposide induced 2.4	0					apoptosis|autophagy|induction of apoptosis|negative regulation of cell growth	endoplasmic reticulum membrane|integral to membrane|nuclear membrane				large_intestine(1)|lung(9)|ovary(1)	11	all_hematologic(175;0.228)	Breast(109;0.0021)|Lung NSC(97;0.0126)|all_lung(97;0.0132)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.64e-07)|OV - Ovarian serous cystadenocarcinoma(99;0.0975)		AGTTGCGCCTCTTCTCCTTGG	0.448													G	125453434	C	G	125453434	3	3	781	1	0	0	0	0	1	0	0	0	5024	913	32	4	916	4	EI24	11	125453434	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	69073332	125453434	9553082	10	57851											
NBEA	26960	broad.mit.edu	37	chr13	35738505	35738505	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttagccattctacaaaGtctgtaatggattttgtcaa	12	17	6	6	0	3	0	1	0	2	0	3	1	3	1	1	1	2	1	1	1	6	8			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr13:35738505G>T	ENST00000540320.1	+	24	4626	c.4092G>T	c.(4090-4092)aaG>aaT	p.K1364N	NBEA_ENST00000310336.4_Missense_Mutation_p.K1364N|NBEA_ENST00000400445.3_Missense_Mutation_p.K1364N|NBEA_ENST00000379939.2_Missense_Mutation_p.K1364N			Q8NFP9	NBEA_HUMAN	neurobeachin	1364						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATTCTACAAAGTCTGTAATGG	0.289													T	35738505	G	T	35738505	3	4	781	1	0	0	0	0	1	0	0	0	10263	1020	36	4	4186	4	NBEA	13	35738505	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08		35738505	79431373	11	57852											
PRSS53	339105	broad.mit.edu	37	chr16	31098181	31098181	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacgctgcagagaacccAggaccactgaccaggaattc	12	5	9	15	1	1	2	1	1	0	1	2	5	1	4	4	2	2	2	4	2	2	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:31098181A>G	ENST00000280606.6	-	4	434	c.281T>C	c.(280-282)cTg>cCg	p.L94P		NM_001039503.2	NP_001034592.1	Q2L4Q9	PRS53_HUMAN	protease, serine, 53	94	Peptidase S1 1.				proteolysis	extracellular region	serine-type endopeptidase activity			large_intestine(1)|lung(3)	4						CAGAGAACCCAGGACCACTGA	0.612													G	31098181	A	G	31098181	3	3	781	1	0	0	0	0	1	0	0	0	12717	188	7	3	1412	3	PRSS53	16	31098181	Missense_Mutation	SNP	A	TCGA-VM-A8CE-01A-11D-A36O-08		31098181	59256572	12	57853											
NAE1	8883	broad.mit.edu	37	chr16	66842495	66842495	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtacaacactatttcattaTctggattgtccatgctagaa	13	14	6	8	0	2	1	1	0	1	1	3	2	3	2	1	1	3	2	1	1	6	6			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr16:66842495T>A	ENST00000379463.2	-	18	1433	c.1241A>T	c.(1240-1242)gAt>gTt	p.D414V	NAE1_ENST00000359087.4_Missense_Mutation_p.D423V|NAE1_ENST00000394074.2_Missense_Mutation_p.D331V|NAE1_ENST00000290810.3_Missense_Mutation_p.D420V	NM_001018159.1	NP_001018169.1	Q13564	ULA1_HUMAN	NEDD8 activating enzyme E1 subunit 1	420					apoptosis|cell cycle|DNA replication|mitotic cell cycle DNA replication checkpoint|protein neddylation|signal transduction	cytoplasm|insoluble fraction|plasma membrane	catalytic activity|protein heterodimerization activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0914)|Epithelial(162;0.214)	Adenosine triphosphate(DB00171)	TATTTCATTATCTGGATTGTC	0.308													A	66842495	T	A	66842495	3	1	781	1	0	0	0	0	1	0	0	0	10215	1435	50	5	361	5	NAE1	16	66842495	Missense_Mutation	SNP	T	TCGA-VM-A8CE-01A-11D-A36O-08	35744314	66842495	23512258	13	57854											
ZNF554	115196	broad.mit.edu	37	chr19	2834829	2834829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gggaaagcgttctaccagaaCagacatcttattggatatta	14	11	9	7	1	2	2	0	0	2	2	2	4	2	4	1	2	3	1	1	2	6	6			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:2834829C>G	ENST00000317243.5	+	5	1794	c.1596C>G	c.(1594-1596)aaC>aaG	p.N532K		NM_001102651.1	NP_001096121.1	Q86TJ5	ZN554_HUMAN	zinc finger protein 554	532					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|liver(3)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	23		Hepatocellular(1079;0.137)		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)		TCTACCAGAACAGACATCTTA	0.423													G	2834829	C	G	2834829	3	3	781	1	0	0	0	0	1	0	0	0	18086	477	17	4	1614	4	ZNF554	19	2834829	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08		2834829	56294154	14	57855											
MUC16	94025	broad.mit.edu	37	chr19	9064360	9064360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggatgaggtgaggtcaCggcaggtaaagacagcgggg	13	4	18	6	2	1	3	1	2	0	1	1	4	1	4	0	7	2	2	0	7	3	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:9064360C>T	ENST00000397910.4	-	3	23289	c.23086G>A	c.(23086-23088)Gtg>Atg	p.V7696M		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	7698	Ser-rich.|Thr-rich.				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	p.V7696M(2)|p.V3329M(1)		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						GGTGAGGTCACGGCAGGTAAA	0.582													T	9064360	C	T	9064360	3	4	781	1	0	0	0	0	1	0	0	0	10049	536	19	1	20765	1	MUC16	19	9064360	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	6229531	9064360	50064623	15	57856											
DCAF15	90379	broad.mit.edu	37	chr19	14066828	14066828	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aaggtcatcgtcttcggcttCaagtgagaccaggcgcctgg	8	9	13	11	3	3	1	2	1	1	1	5	2	3	1	2	4	0	1	2	4	2	2			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:14066828C>G	ENST00000254337.6	+	4	492	c.471C>G	c.(469-471)ttC>ttG	p.F157L		NM_138353.2	NP_612362.2	Q66K64	DCA15_HUMAN	DDB1 and CUL4 associated factor 15	157										breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)	11						TCTTCGGCTTCAAGTGAGACC	0.662													G	14066828	C	G	14066828	3	3	781	1	0	0	0	0	1	0	0	0	4301	825	29	4	485	4	DCAF15	19	14066828	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	5002468	14066828	45062155	16	57857											
CIC	23152	broad.mit.edu	37	chr19	42791718	42791718	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagaaggaccacatccggCggcccatgaatgccttcatg	10	6	13	12	2	1	2	1	1	0	1	2	4	2	3	4	4	1	0	4	4	2	1			TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791718C>T	ENST00000572681.2	+	6	3399	c.3331C>T	c.(3331-3333)Cgg>Tgg	p.R1111W	CIC_ENST00000160740.3_Missense_Mutation_p.R202W|CIC_ENST00000575354.2_Missense_Mutation_p.R202W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	202	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R202W(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CCACATCCGGCGGCCCATGAA	0.622			"Mis, F, S"		oligodendroglioma								T	42791718	C	T	42791718	3	4	781	1	0	0	0	0	1	0	0	0	3454	759	27	1	622	1	CIC	19	42791718	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	28724890	42791718	16337265	17	57858			1	99		3	2	40	N	G_C	2.393632e-05
CIC	23152	broad.mit.edu	37	chr19	42791752	42791752	+	Missense_Mutation	SNP	G	G	C																															cttcatgatcttcagcaagcGgcaccgggccctggtccacc																										TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791752G>C	ENST00000572681.2	+	6	3433	c.3365G>C	c.(3364-3366)cGg>cCg	p.R1122P	CIC_ENST00000160740.3_Missense_Mutation_p.R213P|CIC_ENST00000575354.2_Missense_Mutation_p.R213P			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	213	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R213P(1)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TTCAGCAAGCGGCACCGGGCC	0.617			"Mis, F, S"		oligodendroglioma								C	42791752	G	C	42791752	3	2	781	1	0	0	0	0	1	0	0	0	3454	1116	39	4	656	4	CIC	19	42791752	Missense_Mutation	SNP	G	TCGA-VM-A8CE-01A-11D-A36O-08	34	42791752	16337231	18	57859	179	2	1	99		3	2	40	N	G_C	2.393632e-05
CIC	23152	broad.mit.edu	37	chr19	42791757	42791757	+	Missense_Mutation	SNP	C	C	T																															tgatcttcagcaagcggcacCgggccctggtccaccagcgt																										TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr19:42791757C>T	ENST00000572681.2	+	6	3438	c.3370C>T	c.(3370-3372)Cgg>Tgg	p.R1124W	CIC_ENST00000160740.3_Missense_Mutation_p.R215W|CIC_ENST00000575354.2_Missense_Mutation_p.R215W			Q96RK0	CIC_HUMAN	capicua transcriptional repressor	215	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding	p.R215W(4)		autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				CAAGCGGCACCGGGCCCTGGT	0.612			"Mis, F, S"		oligodendroglioma								T	42791757	C	T	42791757	3	4	781	1	0	0	0	0	1	0	0	0	3454	643	23	1	661	1	CIC	19	42791757	Missense_Mutation	SNP	C	TCGA-VM-A8CE-01A-11D-A36O-08	5	42791757	16337226	19	57860	179	2	1	99		3	2	40	N	G_C	2.393632e-05
BAGE2	85319	broad.mit.edu	37	chr21	11085429	11085431	+	RNA	DEL	ACC	ACC	-																															atgtgcataacaccaccactAccaccaccaccaccaccacc																										TCGA-VM-A8CE-01A-11D-A36O-08	TCGA-VM-A8CE-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	43493bad-ec4b-422b-a8e0-ee8c5de1dbcb	8b0c047a-6768-4336-bb15-57d2fa140a0c	g.chr21:11085429_11085431delACC	ENST00000470054.1	-	0	324									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		caccaccactaccaccaccacca	0.507													-	11085431	ACC	-	11085429	6	5	781	0	1	1	0	1	0	0	0	0	1297	406	14	0		0	BAGE2	21	11085429	RNA	DEL	ACC	TCGA-VM-A8CE-01A-11D-A36O-08		11085429	37044466	20	57861											
FLG	2312	broad.mit.edu	37	chr1	152276230	152276230	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catgagtgctcacctggtagAggaaagaccctgaacgtcca	12	7	11	11	1	1	4	1	2	0	2	2	5	2	5	3	2	2	2	3	2	3	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:152276230A>G	ENST00000368799.1	-	3	11167	c.11132T>C	c.(11131-11133)cTc>cCc	p.L3711P	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	3711	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CACCTGGTAGAGGAAAGACCC	0.617									Ichthyosis				G	152276230	A	G	152276230	3	3	782	1	0	0	0	0	1	0	0	0	5971	304	11	3	1057	3	FLG	1	152276230	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		152276230	96974391	1	57862											
CD1E	913	broad.mit.edu	37	chr1	158325645	158325645	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gaggcctggctgtcctgtggCcccagtcctggccctggccg	2	8	15	16	1	0	0	0	0	0	0	2	1	2	0	7	5	0	1	7	5	0	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:158325645C>T	ENST00000444681.2	+	3	650	c.357C>T	c.(355-357)ggC>ggT	p.G119G	CD1E_ENST00000368154.1_Silent_p.G29G|CD1E_ENST00000368160.3_Silent_p.G218G|CD1E_ENST00000368161.3_Silent_p.G218G|CD1E_ENST00000452291.2_Silent_p.G29G|CD1E_ENST00000368165.3_Silent_p.G128G|CD1E_ENST00000368157.1_Silent_p.G29G|CD1E_ENST00000368167.3_Silent_p.G218G|CD1E_ENST00000368155.3_Silent_p.G128G|CD1E_ENST00000368156.1_Silent_p.G128G|CD1E_ENST00000368164.3_Silent_p.G29G|CD1E_ENST00000368166.3_Silent_p.G29G|CD1E_ENST00000434258.1_Silent_p.G216G|CD1E_ENST00000368163.3_Silent_p.G218G	NM_001185114.1	NP_001172043.1	P15812	CD1E_HUMAN	CD1e molecule	218					antigen processing and presentation|immune response	early endosome|Golgi membrane|integral to plasma membrane|late endosome|lysosomal lumen				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(27)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|urinary_tract(1)	49	all_hematologic(112;0.0378)					TGTCCTGTGGCCCCAGTCCTG	0.572													T	158325645	C	T	158325645	2	4	782	1	0	0	0	0	0	0	0	1	3008	726	26	2		2	CD1E	1	158325645	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	6049415	158325645	90924976	2	57863											
OR10J5	127385	broad.mit.edu	37	chr1	159505100	159505100	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtggcaaaggtcttcttcCggccctcagctgaggcaatt	8	10	12	11	1	3	1	1	1	2	0	4	1	4	1	2	5	1	3	2	5	2	3	rs141462119		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:159505100C>T	ENST00000334857.2	-	1	742	c.698G>A	c.(697-699)cGg>cAg	p.R233Q		NM_001004469.1	NP_001004469.1	Q8NHC4	O10J5_HUMAN	olfactory receptor, family 10, subfamily J, member 5	233			R -> W (in dbSNP:rs35393723).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	22	all_hematologic(112;0.0429)					GGTCTTCTTCCGGCCCTCAGC	0.483													T	159505100	C	T	159505100	3	4	782	1	0	0	0	0	1	0	0	0	10988	652	23	1	233	1	OR10J5	1	159505100	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	1179455	159505100	89745521	3	57864											
RGS13	6003	broad.mit.edu	37	chr1	192628531	192628531	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcaggaacccactgaaacaTgttttgaagaagctcagaaa	16	9	8	8	0	2	4	2	2	0	2	2	5	2	5	1	1	3	2	1	1	5	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:192628531T>A	ENST00000391995.2	+	7	646	c.358T>A	c.(358-360)Tgt>Agt	p.C120S	RGS13_ENST00000543215.1_Missense_Mutation_p.C120S|RGS13_ENST00000482095.1_3'UTR	NM_002927.4	NP_002918.1	O14921	RGS13_HUMAN	regulator of G-protein signaling 13	120	RGS.					plasma membrane	GTPase activator activity|signal transducer activity			endometrium(1)|kidney(1)|large_intestine(4)|lung(12)|skin(1)	19						CACTGAAACATGTTTTGAAGA	0.348													A	192628531	T	A	192628531	3	1	782	1	0	0	0	0	1	0	0	0	13385	1464	51	5	372	5	RGS13	1	192628531	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	33123431	192628531	56622090	4	57865											
CD46	4179	broad.mit.edu	37	chr1	207930905	207930905	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagaaacatgtccatatataCgggatcctttaaatggccaa	15	10	8	8	1	0	1	0	0	0	1	2	3	2	2	3	2	2	0	3	2	7	5			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:207930905C>T	ENST00000358170.2	+	3	463	c.307C>T	c.(307-309)Cgg>Tgg	p.R103W	CD46_ENST00000322918.5_Missense_Mutation_p.R103W|CD46_ENST00000322875.4_Missense_Mutation_p.R103W|CD46_ENST00000357714.1_Missense_Mutation_p.R103W|CD46_ENST00000354848.1_Missense_Mutation_p.R103W|CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_Missense_Mutation_p.R103W|CD46_ENST00000367047.1_Missense_Mutation_p.R40W|CD46_ENST00000480003.1_Missense_Mutation_p.R103W|CD46_ENST00000360212.2_Missense_Mutation_p.R103W|CD46_ENST00000367042.1_Missense_Mutation_p.R103W|CD46_ENST00000367041.1_Missense_Mutation_p.R103W|CD46_ENST00000441839.2_Missense_Mutation_p.R103W	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	103	Sushi 2.				complement activation, classical pathway|innate immune response|interspecies interaction between organisms|single fertilization	inner acrosomal membrane|integral to plasma membrane	protein binding|receptor activity			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TCCATATATACGGGATCCTTT	0.363													T	207930905	C	T	207930905	3	4	782	1	0	0	0	0	1	0	0	0	3048	527	19	1	317	1	CD46	1	207930905	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	15302374	207930905	41319716	5	57866											
AGT	183	broad.mit.edu	37	chr1	230845898	230845898	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagagagcgtgggaggacCacaggggtatagagagccag	12	4	17	8	1	0	2	0	0	0	2	1	6	1	4	3	4	2	1	3	4	2	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr1:230845898C>A	ENST00000366667.4	-	2	913	c.699G>T	c.(697-699)gtG>gtT	p.V233V		NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	233					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|blood vessel remodeling|cell-cell signaling|cellular lipid metabolic process|G-protein signaling, coupled to cGMP nucleotide second messenger|kidney development|low-density lipoprotein particle remodeling|negative regulation of nerve growth factor receptor signaling pathway|nitric oxide mediated signal transduction|positive regulation of activation of JAK2 kinase activity|positive regulation of apoptosis|positive regulation of branching involved in ureteric bud morphogenesis|positive regulation of cardiac muscle hypertrophy|positive regulation of cholesterol esterification|positive regulation of cytokine production|positive regulation of endothelial cell migration|positive regulation of epidermal growth factor receptor signaling pathway|positive regulation of fibroblast proliferation|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein tyrosine kinase activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription, DNA-dependent|regulation of proteolysis|regulation of renal output by angiotensin|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|response to muscle activity involved in regulation of muscle adaptation	extracellular space|soluble fraction	acetyltransferase activator activity|growth factor activity|hormone activity|serine-type endopeptidase inhibitor activity|type 1 angiotensin receptor binding|type 2 angiotensin receptor binding			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)	Aliskiren(DB01258)|Atorvastatin(DB01076)|Cilazapril(DB01340)|Irbesartan(DB01029)|Lisinopril(DB00722)|Ouabain(DB01092)|Simvastatin(DB00641)	GTGGGAGGACCACAGGGGTAT	0.602													A	230845898	C	A	230845898	2	1	782	1	0	0	0	0	0	0	0	1	399	581	21	4		4	AGT	1	230845898	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	22914993	230845898	18404723	6	57867											
GCKR	2646	broad.mit.edu	37	chr2	27722069	27722071	+	In_Frame_Del	DEL	GAA	GAA	-																															ttgcacgggattgaggaactGaagaaggtctgtgcttttca																										TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:27722069_27722071delGAA	ENST00000264717.2	+	6	552_554	c.489_491delGAA	c.(487-492)ctgaag>ctg	p.K165del	GCKR_ENST00000424318.2_Intron	NM_001486.3	NP_001477.2	Q14397	GCKR_HUMAN	glucokinase (hexokinase 4) regulator	165	SIS 1.				carbohydrate metabolic process|glucose transport|negative regulation of glucokinase activity|positive regulation of gene expression|protein import into nucleus, translocation|regulation of glucose transport|response to fructose stimulus|transmembrane transport|triglyceride homeostasis|urate metabolic process	cytosol|nucleoplasm	fructose-6-phosphate binding|protein binding			breast(2)|endometrium(4)|kidney(2)|large_intestine(4)|liver(2)|lung(13)|ovary(2)	29	Acute lymphoblastic leukemia(172;0.155)					TTGAGGAACTGAAGAAGGTCTGT	0.512													-	27722071	GAA	-	27722069	7	5	782	1	0	1	0	1	0	0	0	0	6348	1277	45	0	511	0	GCKR	2	27722069	In_Frame_Del	DEL	GAA	TCGA-VM-A8CF-01A-11D-A36O-08		27722069	215477304	7	57868											
CHRNA1	1134	broad.mit.edu	37	chr2	175619022	175619022	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagttctgttcatcaaagggAaagtgggtgacgatgatctc	11	11	12	7	1	4	2	2	2	2	0	5	4	4	3	0	2	0	2	0	2	2	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr2:175619022A>G	ENST00000348749.5	-	5	542	c.465T>C	c.(463-465)ttT>ttC	p.F155F	CHRNA1_ENST00000409323.1_Silent_p.F155F|CHRNA1_ENST00000409542.1_Intron|CHRNA1_ENST00000409219.1_Silent_p.F155F|AC018890.6_ENST00000442996.1_RNA|CHRNA1_ENST00000261007.5_Silent_p.F180F	NM_000079.3	NP_000070.1	P02708	ACHA_HUMAN	cholinergic receptor, nicotinic, alpha 1 (muscle)	180					muscle cell homeostasis|neuromuscular junction development|neuromuscular process|neuromuscular synaptic transmission|neuron homeostasis|regulation of action potential in neuron|skeletal muscle contraction|skeletal muscle tissue growth	cell junction|cell surface|neuromuscular junction|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(3)|prostate(3)|skin(4)	37						CATCAAAGGGAAAGTGGGTGA	0.522													G	175619022	A	G	175619022	2	3	782	1	0	0	0	0	0	0	0	1	3411	243	9	3		3	CHRNA1	2	175619022	Silent	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	147896953	175619022	67580351	8	57869											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	782	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	33494090	209113112	34086261	9	57870											
FAM19A4	151647	broad.mit.edu	37	chr3	68788283	68788283	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	caacctgagtaatctggcagCactttacaatcctctccttc	10	12	5	14	0	2	1	0	1	2	0	5	1	3	1	3	1	3	3	3	1	4	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:68788283C>G	ENST00000295569.7	-	5	846	c.354G>C	c.(352-354)gtG>gtC	p.V118V		NM_001005527.2|NM_182522.4	NP_001005527.1|NP_872328.1	Q96LR4	F19A4_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A4	118						extracellular region				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(5)|skin(2)	10		Lung NSC(201;0.0198)		BRCA - Breast invasive adenocarcinoma(55;1.38e-05)|Epithelial(33;0.000124)|LUSC - Lung squamous cell carcinoma(21;0.0248)|KIRC - Kidney renal clear cell carcinoma(39;0.0729)|Kidney(39;0.0904)		AATCTGGCAGCACTTTACAAT	0.393													G	68788283	C	G	68788283	2	3	782	1	0	0	0	0	0	0	0	1	5581	697	25	4		4	FAM19A4	3	68788283	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		68788283	129234147	10	57871											
EPHA3	2042	broad.mit.edu	37	chr3	89390920	89390920	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcaggacctccatcttcacCaagaaatgttatctctaata	13	12	5	11	0	3	1	1	0	2	1	5	2	4	2	3	1	1	2	3	1	5	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr3:89390920C>A	ENST00000336596.2	+	5	1211	c.986C>A	c.(985-987)cCa>cAa	p.P329Q	EPHA3_ENST00000452448.2_Missense_Mutation_p.P329Q|EPHA3_ENST00000494014.1_Missense_Mutation_p.P329Q	NM_005233.5	NP_005224.2	P29320	EPHA3_HUMAN	EPH receptor A3	329	Fibronectin type-III 1.					extracellular region|integral to plasma membrane	ATP binding			NS(1)|breast(4)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(26)|liver(3)|lung(67)|ovary(7)|pancreas(1)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)	139	all_cancers(8;0.0406)|Melanoma(1;0.00142)|all_epithelial(1;0.0612)	Lung NSC(201;0.0782)		LUSC - Lung squamous cell carcinoma(29;0.00344)|Lung(72;0.00942)		CCATCTTCACCAAGAAATGTT	0.403										TSP Lung(6;0.00050)			A	89390920	C	A	89390920	3	1	782	1	0	0	0	0	1	0	0	0	5209	594	21	4	1004	4	EPHA3	3	89390920	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	20602637	89390920	108631510	11	57872											
KIAA0232	9778	broad.mit.edu	37	chr4	6862653	6862653	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagcatttccaccacttTctgagaaaccagtttgcctg	11	12	7	11	0	1	2	0	2	1	1	2	3	2	2	4	0	3	2	4	0	2	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:6862653T>C	ENST00000307659.5	+	7	999	c.544T>C	c.(544-546)Tct>Cct	p.S182P	KIAA0232_ENST00000425103.1_Missense_Mutation_p.S182P	NM_014743.2	NP_055558.2	Q92628	K0232_HUMAN	KIAA0232	182							ATP binding			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(12)|ovary(2)|prostate(4)|skin(1)|urinary_tract(1)	41						TCCACCACTTTCTGAGAAACC	0.398													C	6862653	T	C	6862653	3	2	782	1	0	0	0	0	1	0	0	0	8221	1783	62	3	562	3	KIAA0232	4	6862653	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08		6862653	184291623	12	57873											
GABRA2	2555	broad.mit.edu	37	chr4	46388112	46388112	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	tcccagtcctggtctaagccGattatcgtaaccatccagaa	11	10	7	13	2	1	1	0	0	1	1	5	2	4	1	5	1	2	1	5	1	4	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:46388112G>C	ENST00000507460.1	-	3	498	c.166C>G	c.(166-168)Cgg>Ggg	p.R56G	GABRA2_ENST00000381620.4_Missense_Mutation_p.R56G|GABRA2_ENST00000356504.1_Missense_Mutation_p.R56G|GABRA2_ENST00000514090.1_Missense_Mutation_p.R56G|GABRA2_ENST00000515082.1_Missense_Mutation_p.R56G|GABRA2_ENST00000540012.1_Missense_Mutation_p.I23M|GABRA2_ENST00000507069.1_Missense_Mutation_p.R56G|GABRA2_ENST00000510861.1_Missense_Mutation_p.R56G|GABRA2_ENST00000509716.1_5'UTR			P47869	GBRA2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 2	56					gamma-aminobutyric acid signaling pathway|neurotransmitter transport|regulation of neurotransmitter levels	cell junction|chloride channel complex|integral to synaptic vesicle membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			NS(1)|breast(1)|cervix(1)|endometrium(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	56					Alprazolam(DB00404)|Bromazepam(DB01558)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Fludiazepam(DB01567)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)	GGTCTAAGCCGATTATCGTAA	0.353													C	46388112	G	C	46388112	3	2	782	1	0	0	0	0	1	0	0	0	6213	1057	37	4	1221	4	GABRA2	4	46388112	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	39525459	46388112	144766164	13	57874											
REST	5978	broad.mit.edu	37	chr4	57796251	57796251	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aatctacagtatcacttcaaAtctaagcatcctacttgtcc	13	13	3	12	0	4	0	2	0	2	0	6	0	6	0	2	0	3	2	2	0	6	6			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:57796251A>G	ENST00000309042.7	+	4	1541	c.1227A>G	c.(1225-1227)aaA>aaG	p.K409K		NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	409	Lys-rich.				cardiac muscle cell myoblast differentiation|cellular response to drug|cellular response to electrical stimulus|cellular response to glucocorticoid stimulus|histone H4 deacetylation|negative regulation by host of viral transcription|negative regulation of aldosterone biosynthetic process|negative regulation of calcium ion-dependent exocytosis|negative regulation of cell proliferation|negative regulation of cortisol biosynthetic process|negative regulation of dense core granule biogenesis|negative regulation of insulin secretion|negative regulation of mesenchymal stem cell differentiation|negative regulation of neurogenesis|negative regulation of neuron differentiation|positive regulation of apoptosis|positive regulation of caspase activity|positive regulation of transcription, DNA-dependent	cytoplasm|transcriptional repressor complex	calcium channel activity|chromatin binding|core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|outward rectifier potassium channel activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|zinc ion binding			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					ATCACTTCAAATCTAAGCATC	0.378													G	57796251	A	G	57796251	2	3	782	1	0	0	0	0	0	0	0	1	13322	98	4	3		3	REST	4	57796251	Silent	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	11408139	57796251	133358025	14	57875											
DCK	1633	broad.mit.edu	37	chr4	71889297	71889297	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tatatttttgcatctaatttGtatgaatctgaatgcatgaa	13	18	6	4	0	2	3	0	3	2	0	2	3	2	3	0	0	2	3	0	0	7	7			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:71889297G>T	ENST00000286648.5	+	4	820	c.423G>T	c.(421-423)ttG>ttT	p.L141F	DCK_ENST00000504952.1_Missense_Mutation_p.L141F|DCK_ENST00000504730.1_Missense_Mutation_p.L141F	NM_000788.2	NP_000779.1	P27707	DCK_HUMAN	deoxycytidine kinase	141					purine base metabolic process|purine-containing compound salvage|pyrimidine base metabolic process|pyrimidine nucleoside salvage|pyrimidine nucleotide metabolic process	cytosol|nucleus	ATP binding|deoxycytidine kinase activity|drug binding|phosphotransferase activity, alcohol group as acceptor|protein homodimerization activity			endometrium(2)|large_intestine(3)|lung(3)|ovary(1)	9			Lung(101;0.235)		Cladribine(DB00242)|Clofarabine(DB00631)|Decitabine(DB01262)|Fludarabine(DB01073)|Gemcitabine(DB00441)|Pemetrexed(DB00642)|Zalcitabine(DB00943)	CATCTAATTTGTATGAATCTG	0.328													T	71889297	G	T	71889297	3	4	782	1	0	0	0	0	1	0	0	0	4324	1368	48	4	437	4	DCK	4	71889297	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	14093046	71889297	119264979	15	57876											
GLRB	2743	broad.mit.edu	37	chr4	158059959	158059959	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atttatttgtttttgtttatAgttggttacacaactgatga	10	21	7	3	0	0	2	0	2	0	0	0	2	0	2	0	1	2	4	0	1	5	10			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr4:158059959A>G	ENST00000264428.4	+	7	880		c.e7-1		GLRB_ENST00000509282.1_Splice_Site|GLRB_ENST00000512619.1_Intron|GLRB_ENST00000541722.1_Splice_Site	NM_000824.4	NP_000815.1	P48167	GLRB_HUMAN	glycine receptor, beta						nervous system development|neuropeptide signaling pathway|startle response	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|protein binding|receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(11)|lung(6)|skin(5)|upper_aerodigestive_tract(1)	27	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.0564)|COAD - Colon adenocarcinoma(41;0.0642)|Kidney(143;0.0707)	Glycine(DB00145)	TTTTGTTTATAGTTGGTTACA	0.259													G	158059959	A	G	158059959	5	3	782	1	0	0	0	0	0	0	1	0	6514	434	15	3	631	3	GLRB	4	158059959	Splice_Site	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	86170662	158059959	33094317	16	57877											
PCDHB12	56124	broad.mit.edu	37	chr5	140590836	140590836	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtagtgaagtcgaagaaaAtcccccatttcagaataatt	16	10	8	7	1	1	3	1	1	0	2	3	4	2	3	2	1	0	1	2	1	7	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr5:140590836A>G	ENST00000239450.2	+	1	2546	c.2357A>G	c.(2356-2358)aAt>aGt	p.N786S	PCDHB12_ENST00000541609.1_Missense_Mutation_p.N449S	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN		786					homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCGAAGAAAATCCCCCATTT	0.383													G	140590836	A	G	140590836	3	3	782	1	0	0	0	0	1	0	0	0	11613	101	4	3	2359	3	PCDHB12	5	140590836	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		140590836	40324424	17	57878											
RIPK1	8737	broad.mit.edu	37	chr6	3106127	3106127	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	tggattatatagctcacatgGctttggaacaagaccactgg	12	11	10	8	0	1	1	1	0	0	1	1	3	1	3	1	4	2	2	1	4	5	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:3106127G>A	ENST00000259808.4	+	9	1716	c.1418G>A	c.(1417-1419)gGc>gAc	p.G473D	RIPK1_ENST00000479389.1_3'UTR|RIPK1_ENST00000380409.2_Missense_Mutation_p.G473D|RIPK1_ENST00000541791.1_Missense_Mutation_p.G427D			Q13546	RIPK1_HUMAN	receptor (TNFRSF)-interacting serine-threonine kinase 1	473	Interaction with SQSTM1.				activation of caspase activity|activation of JUN kinase activity|activation of pro-apoptotic gene products|induction of apoptosis by extracellular signals|induction of necroptosis by extracellular signals|innate immune response|MyD88-independent toll-like receptor signaling pathway|positive regulation of anti-apoptosis|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of interleukin-8 production|positive regulation of NF-kappaB transcription factor activity|positive regulation of reactive oxygen species metabolic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of tumor necrosis factor production|protein autophosphorylation|regulation of ATP:ADP antiporter activity|Toll signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|death-inducing signaling complex|endosome membrane|mitochondrion|receptor complex	ATP binding|death domain binding|death receptor binding|protein serine/threonine kinase activity			breast(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	23	Ovarian(93;0.0386)	all_hematologic(90;0.0895)				AGCTCACATGGCTTTGGAACA	0.498													A	3106127	G	A	3106127	3	1	782	1	0	0	0	0	1	0	0	0	13471	1203	42	2	1448	2	RIPK1	6	3106127	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		3106127	168008940	18	57879											
TFEB	7942	broad.mit.edu	37	chr6	41654880	41654880	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccaactccttgatgcggtcaTtgatgttgaaccttcgtctc	7	14	8	12	2	2	3	1	3	1	0	5	3	3	3	3	1	3	1	3	1	2	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:41654880T>C	ENST00000394283.1	-	7	1981	c.755A>G	c.(754-756)aAt>aGt	p.N252S	TFEB_ENST00000420312.1_Missense_Mutation_p.N167S|TFEB_ENST00000403298.4_Missense_Mutation_p.N252S|TFEB_ENST00000358871.2_Missense_Mutation_p.N266S|TFEB_ENST00000373033.1_Missense_Mutation_p.N252S|TFEB_ENST00000230323.4_Missense_Mutation_p.N252S			P19484	TFEB_HUMAN	transcription factor EB	252	Helix-loop-helix motif.				embryonic placenta development|humoral immune response|positive regulation of transcription from RNA polymerase II promoter	cytoplasm	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)	11	Ovarian(28;0.0355)|Colorectal(47;0.121)		Epithelial(12;7.61e-05)|STAD - Stomach adenocarcinoma(11;0.000204)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00507)			GATGCGGTCATTGATGTTGAA	0.547			T	ALPHA	renal (childhood epithelioid)								C	41654880	T	C	41654880	3	2	782	1	0	0	0	0	1	0	0	0	15901	1493	52	3	687	3	TFEB	6	41654880	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	38548753	41654880	129460187	19	57880											
COL21A1	81578	broad.mit.edu	37	chr6	55924013	55924013	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gatacccaaacccttggctcCctttttccccatttcttcct	6	15	3	17	0	1	0	0	0	1	0	4	1	4	0	6	1	2	1	6	1	2	6			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr6:55924013C>T	ENST00000244728.5	-	29	3033	c.2636G>A	c.(2635-2637)gGg>gAg	p.G879E	COL21A1_ENST00000535941.1_Missense_Mutation_p.G879E|COL21A1_ENST00000467045.1_5'UTR|COL21A1_ENST00000370808.2_Missense_Mutation_p.G245E|COL21A1_ENST00000370819.1_Missense_Mutation_p.G876E	NM_030820.3	NP_110447.2	Q96P44	COLA1_HUMAN	collagen, type XXI, alpha 1	879	Collagen-like 6.				cell adhesion	collagen|cytoplasm	structural molecule activity			breast(1)|endometrium(1)|kidney(3)|large_intestine(11)|lung(21)|ovary(2)|prostate(2)	41	Lung NSC(77;0.0483)		LUSC - Lung squamous cell carcinoma(124;0.181)			CCCTTGGCTCCCTTTTTCCCC	0.448													T	55924013	C	T	55924013	3	4	782	1	0	0	0	0	1	0	0	0	3711	623	22	2	245	2	COL21A1	6	55924013	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	14269133	55924013	115191054	20	57881											
DUS4L	11062	broad.mit.edu	37	chr7	107215662	107215662	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggcagaaggttatggggcttGcttaataaacaagccagagc	13	8	13	7	0	0	2	0	0	0	2	0	2	0	2	1	4	4	4	1	4	6	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr7:107215662G>C	ENST00000265720.3	+	6	748	c.386G>C	c.(385-387)tGc>tCc	p.C129S	DUS4L_ENST00000402620.1_Missense_Mutation_p.C8S	NM_001270419.1|NM_181581.2	NP_001257348.1|NP_853559.1	O95620	DUS4L_HUMAN	dihydrouridine synthase 4-like (S. cerevisiae)	129					tRNA processing		flavin adenine dinucleotide binding|tRNA dihydrouridine synthase activity			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|skin(1)|stomach(1)	8						TATGGGGCTTGCTTAATAAAC	0.363													C	107215662	G	C	107215662	3	2	782	1	0	0	0	0	1	0	0	0	4847	1319	46	4	400	4	DUS4L	7	107215662	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		107215662	51923001	21	57882											
ANGPT1	284	broad.mit.edu	37	chr8	108334251	108334251	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccagctcctggattatataTgtttgacgagtaaccaagcc	11	12	8	10	1	0	1	0	1	0	0	2	3	2	2	4	1	3	3	4	1	5	5			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr8:108334251T>G	ENST00000520734.1	-	3	366	c.81A>C	c.(79-81)acA>acC	p.T27T	ANGPT1_ENST00000520052.1_Silent_p.T27T			Q15389	ANGP1_HUMAN	angiopoietin 1	227					activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|blood coagulation|cell differentiation|heparin biosynthetic process|leukocyte migration|negative regulation of cell adhesion|negative regulation of endothelial cell apoptosis|negative regulation of vascular permeability|positive chemotaxis|positive regulation of blood vessel endothelial cell migration|positive regulation of ERK1 and ERK2 cascade|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of protein kinase B signaling cascade|positive regulation of protein ubiquitination|positive regulation of receptor internalization|protein localization at cell surface|regulation of satellite cell proliferation|sprouting angiogenesis|Tie receptor signaling pathway	extracellular space|membrane raft|microvillus|plasma membrane	receptor tyrosine kinase binding			NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			GGATTATATATGTTTGACGAG	0.418													G	108334251	T	G	108334251	2	3	782	1	0	0	0	0	0	0	0	1	610	1451	51	5		5	ANGPT1	8	108334251	Silent	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08		108334251	38029771	22	57883											
FREM1	158326	broad.mit.edu	37	chr9	14746437	14746437	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tagcctgagtgctggtgccaCccggctggacaggatttgtc	6	10	14	11	1	0	1	0	1	0	0	1	3	0	3	3	4	3	2	3	4	1	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:14746437C>T	ENST00000380881.4	-	36	6986	c.6171G>A	c.(6169-6171)ggG>ggA	p.G2057G	FREM1_ENST00000380894.1_Silent_p.G592G|FREM1_ENST00000422223.2_Silent_p.G2056G|FREM1_ENST00000380880.3_Silent_p.G2056G			Q5H8C1	FREM1_HUMAN	FRAS1 related extracellular matrix 1	2056					cell communication|multicellular organismal development	basement membrane|integral to membrane	metal ion binding|sugar binding			breast(3)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(40)|ovary(4)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	100				GBM - Glioblastoma multiforme(50;3.53e-06)		GCTGGTGCCACCCGGCTGGAC	0.493													T	14746437	C	T	14746437	2	4	782	1	0	0	0	0	0	0	0	1	6096	494	18	2		2	FREM1	9	14746437	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		14746437	126466994	23	57884											
SNAPC3	6619	broad.mit.edu	37	chr9	15459757	15459757	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgcaccagaggacccaTgcttcttttgtgatgtttgc	6	16	10	9	0	1	2	0	1	1	1	1	3	1	3	2	1	3	4	2	1	0	6			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr9:15459757T>C	ENST00000380821.3	+	9	1305	c.1129T>C	c.(1129-1131)Tgc>Cgc	p.C377R		NM_001039697.1	NP_001034786.1	Q92966	SNPC3_HUMAN	small nuclear RNA activating complex, polypeptide 3, 50kDa	377					regulation of transcription, DNA-dependent|snRNA transcription|transcription from RNA polymerase II promoter|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding|protein binding			breast(1)|endometrium(3)|large_intestine(6)|lung(2)	12				GBM - Glioblastoma multiforme(50;2.15e-06)		AGAGGACCCATGCTTCTTTTG	0.393													C	15459757	T	C	15459757	3	2	782	1	0	0	0	0	1	0	0	0	14930	1464	51	3	1163	3	SNAPC3	9	15459757	Missense_Mutation	SNP	T	TCGA-VM-A8CF-01A-11D-A36O-08	713320	15459757	125753674	24	57885											
SVIL	6840	broad.mit.edu	37	chr10	29839796	29839796	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agccgtcacccacatggaggGcatagtccttggattcaccg	9	8	11	13	2	2	0	2	0	0	0	3	2	3	2	4	3	1	1	4	3	1	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:29839796G>A	ENST00000375398.2	-	8	1006	c.557C>T	c.(556-558)gCc>gTc	p.A186V	SVIL_ENST00000375400.3_Missense_Mutation_p.A186V|SVIL_ENST00000355867.4_Missense_Mutation_p.A186V			O95425	SVIL_HUMAN	supervillin	186					cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				CACATGGAGGGCATAGTCCTT	0.577													A	29839796	G	A	29839796	3	1	782	1	0	0	0	0	1	0	0	0	15517	1203	42	2	6219	2	SVIL	10	29839796	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		29839796	105694951	25	57886											
SYCE1	93426	broad.mit.edu	37	chr10	135370647	135370647	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tctctccttgcactcctgcaAcatggtgtgcttcctgggag	5	13	10	13	0	1	0	0	0	1	0	5	1	4	1	3	2	4	3	3	2	1	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr10:135370647A>T	ENST00000368517.3	-	7	418	c.280T>A	c.(280-282)Ttg>Atg	p.L94M	SYCE1_ENST00000343131.5_Missense_Mutation_p.L130M|SYCE1_ENST00000432597.2_Missense_Mutation_p.L94M|SPRN_ENST00000541506.1_Intron	NM_130784.2	NP_570140.1	Q8N0S2	SYCE1_HUMAN	synaptonemal complex central element protein 1	130					cell division	central element				breast(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(2)|stomach(3)|urinary_tract(1)	19		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		CACTCCTGCAACATGGTGTGC	0.547													T	135370647	A	T	135370647	3	4	782	1	0	0	0	0	1	0	0	0	15524	40	2	5	738	5	SYCE1	10	135370647	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	105530851	135370647	164100	26	57887											
PPFIBP2	8495	broad.mit.edu	37	chr11	7662771	7662771	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacctctcatccacatcatcGggcactgaatcaggtcctca	10	9	7	15	1	4	1	4	1	1	0	8	2	6	1	3	2	0	1	3	2	1	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:7662771G>A	ENST00000299492.4	+	16	1825	c.1437G>A	c.(1435-1437)tcG>tcA	p.S479S	PPFIBP2_ENST00000530582.1_3'UTR|PPFIBP2_ENST00000530181.1_Silent_p.S336S|PPFIBP2_ENST00000528883.1_Silent_p.S367S|PPFIBP2_ENST00000533792.1_Silent_p.S321S	NM_003621.3	NP_003612	Q8ND30	LIPB2_HUMAN	PTPRF interacting protein, binding protein 2 (liprin beta 2)	479					cell communication|DNA integration	intracellular	DNA binding|integrase activity|protein binding			breast(8)|cervix(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				Epithelial(150;2.01e-07)|BRCA - Breast invasive adenocarcinoma(625;0.236)		CCACATCATCGGGCACTGAAT	0.483													A	7662771	G	A	7662771	2	1	782	1	0	0	0	0	0	0	0	1	12391	1103	39	1		1	PPFIBP2	11	7662771	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7662771	127343745	27	57888											
ARHGAP1	392	broad.mit.edu	37	chr11	46701805	46701805	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacttgggtgttggccgacCtccggaagatgccctcggtg	5	9	14	13	3	0	1	0	0	0	1	2	3	1	2	5	4	1	1	5	4	1	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:46701805C>G	ENST00000311956.4	-	10	945	c.848G>C	c.(847-849)aGg>aCg	p.R283T		NM_004308.3	NP_004299.1	Q07960	RHG01_HUMAN	Rho GTPase activating protein 1	283	Rho-GAP.				Rho protein signal transduction	cytosol|intracellular membrane-bounded organelle	SH3 domain binding|SH3/SH2 adaptor activity			endometrium(1)|lung(7)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	11		Lung NSC(402;1.76e-12)|all_lung(304;1.3e-11)		GBM - Glioblastoma multiforme(35;5.17e-06)|BRCA - Breast invasive adenocarcinoma(625;0.00112)|Lung(87;0.153)		GTTGGCCGACCTCCGGAAGAT	0.617													G	46701805	C	G	46701805	3	3	782	1	0	0	0	0	1	0	0	0	864	681	24	4	487	4	ARHGAP1	11	46701805	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	39039034	46701805	88304711	28	57889											
OR5M9	390162	broad.mit.edu	37	chr11	56230095	56230095	+	Silent	SNP	G	G	C																															tgctctacggattcctcagtGggtctcctgagatacatgaa																										TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230095G>C	ENST00000279791.1	-	1	782	c.783C>G	c.(781-783)ccC>ccG	p.P261P		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261P(1)|p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					ATTCCTCAGTGGGTCTCCTGA	0.493													C	56230095	G	C	56230095	2	2	782	1	0	0	0	0	0	0	0	1	11253	1335	47	4		4	OR5M9	11	56230095	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	9528290	56230095	78776421	29	57890	180	2									
OR5M9	390162	broad.mit.edu	37	chr11	56230096	56230096	+	Missense_Mutation	SNP	G	G	A																															gctctacggattcctcagtgGgtctcctgagatacatgaag																										TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:56230096G>A	ENST00000279791.1	-	1	781	c.782C>T	c.(781-783)cCc>cTc	p.P261L		NM_001004743.1	NP_001004743.1	Q8NGP3	OR5M9_HUMAN	olfactory receptor, family 5, subfamily M, member 9	261					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.P261Q(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	36	Esophageal squamous(21;0.00448)					TTCCTCAGTGGGTCTCCTGAG	0.488													A	56230096	G	A	56230096	3	1	782	1	0	0	0	0	1	0	0	0	11253	1232	43	2	152	2	OR5M9	11	56230096	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	1	56230096	78776420	30	57891	180	2									
OR5A1	219982	broad.mit.edu	37	chr11	59210797	59210797	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctggccctcatttttctgatCagaggtgacacccatctgca	8	12	8	13	0	4	3	2	2	2	1	4	3	4	3	2	2	1	1	2	2	0	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:59210797C>T	ENST00000302030.2	+	1	181	c.156C>T	c.(154-156)atC>atT	p.I52I		NM_001004728.1	NP_001004728.1	Q8NGJ0	OR5A1_HUMAN	olfactory receptor, family 5, subfamily A, member 1	52			I -> V (in dbSNP:rs17153732).		sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(14)|ovary(2)|prostate(2)|skin(3)|stomach(1)	28						TTTTTCTGATCAGAGGTGACA	0.498													T	59210797	C	T	59210797	2	4	782	1	0	0	0	0	0	0	0	1	11215	816	29	2		2	OR5A1	11	59210797	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	2980701	59210797	75795719	31	57892											
MMP3	4314	broad.mit.edu	37	chr11	102711301	102711301	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggagtggccaatttcatgagCagcaacgagaaataaattgg	15	8	12	6	1	1	2	1	1	0	1	1	4	1	3	1	3	3	2	1	3	5	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:102711301C>A	ENST00000299855.5	-	5	905	c.649G>T	c.(649-651)Gct>Tct	p.A217S		NM_002422.3	NP_002413.1	P08254	MMP3_HUMAN	matrix metallopeptidase 3 (stromelysin 1, progelatinase)	217					collagen catabolic process|proteolysis	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|zinc ion binding			endometrium(2)|kidney(3)|large_intestine(3)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22		all_hematologic(158;0.00092)|Acute lymphoblastic leukemia(157;0.000967)		BRCA - Breast invasive adenocarcinoma(274;0.0142)	Marimastat(DB00786)|Simvastatin(DB00641)	ATTTCATGAGCAGCAACGAGA	0.413													A	102711301	C	A	102711301	3	1	782	1	0	0	0	0	1	0	0	0	9742	710	25	4	808	4	MMP3	11	102711301	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	43500504	102711301	32295215	32	57893											
GUCY1A2	2977	broad.mit.edu	37	chr11	106647281	106647281	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctgtggagccctgctgcaaCacagtaggcatcacctattg	9	10	10	12	0	2	0	1	0	1	0	2	1	2	1	2	2	4	4	2	2	3	3			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:106647281C>A	ENST00000526355.2	-	6	2188	c.1720G>T	c.(1720-1722)Gtt>Ttt	p.V574F	GUCY1A2_ENST00000347596.2_Missense_Mutation_p.V595F|GUCY1A2_ENST00000282249.2_Missense_Mutation_p.V574F	NM_000855.2	NP_000846.1	P33402	GCYA2_HUMAN	guanylate cyclase 1, soluble, alpha 2		Guanylate cyclase.				intracellular signal transduction|platelet activation	cytoplasm	GTP binding|guanylate cyclase activity|heme binding			breast(5)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(18)|liver(1)|lung(32)|ovary(1)|pancreas(2)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	74		all_epithelial(67;3.66e-05)|Melanoma(852;0.000382)|Acute lymphoblastic leukemia(157;0.001)|all_hematologic(158;0.0017)|Breast(348;0.026)|all_neural(303;0.068)		BRCA - Breast invasive adenocarcinoma(274;8.04e-05)|Epithelial(105;0.0036)|all cancers(92;0.0476)		CCTGCTGCAACACAGTAGGCA	0.443													A	106647281	C	A	106647281	3	1	782	1	0	0	0	0	1	0	0	0	6948	478	17	4	490	4	GUCY1A2	11	106647281	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	3935980	106647281	28359235	33	57894											
CRYAB	1410	broad.mit.edu	37	chr11	111779528	111779528	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgacagcaggcttctcttcaCgggtgatgggaatggtgcgc	7	10	15	9	2	2	2	1	2	1	0	3	3	2	3	0	4	2	2	0	4	1	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr11:111779528C>T	ENST00000533475.1	-	4	937	c.488G>A	c.(487-489)cGt>cAt	p.R163H	CRYAB_ENST00000531198.1_Missense_Mutation_p.R163H|CRYAB_ENST00000525823.1_Missense_Mutation_p.R96H|CRYAB_ENST00000526180.1_Missense_Mutation_p.R163H|CRYAB_ENST00000533280.1_Missense_Mutation_p.R96H|CRYAB_ENST00000227251.3_Missense_Mutation_p.R163H|CRYAB_ENST00000527950.1_Missense_Mutation_p.R163H	NM_001885.1	NP_001876.1	P02511	CRYAB_HUMAN	crystallin, alpha B	163					anti-apoptosis|muscle contraction|negative regulation of intracellular transport|protein folding|protein homooligomerization|response to heat	cytoplasm|nucleus	protein homodimerization activity|structural constituent of eye lens|unfolded protein binding	p.R163H(1)		endometrium(1)|large_intestine(1)|lung(2)|skin(4)	8		all_cancers(61;1.26e-15)|all_epithelial(67;9.52e-10)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.57e-07)|BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|all cancers(92;6.57e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.051)		CTTCTCTTCACGGGTGATGGG	0.493													T	111779528	C	T	111779528	3	4	782	1	0	0	0	0	1	0	0	0	3937	536	19	1	43	1	CRYAB	11	111779528	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	5132247	111779528	23226988	34	57895											
FAH	2184	broad.mit.edu	37	chr15	80465431	80465431	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttttgggaccactgtctctcCgtgggtggtgcccatggatg	4	13	14	10	1	1	0	0	0	1	0	3	2	2	2	3	4	1	0	3	4	0	2	rs80338898		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:80465431C>T	ENST00000539156.1	+	8	2810	c.572C>T	c.(571-573)cCg>cTg	p.P191L	FAH_ENST00000558627.1_3'UTR|FAH_ENST00000561421.1_Missense_Mutation_p.P261L|FAH_ENST00000261755.5_Missense_Mutation_p.P261L|FAH_ENST00000407106.1_Missense_Mutation_p.P261L			P16930	FAAA_HUMAN	fumarylacetoacetate hydrolase (fumarylacetoacetase)	261					L-phenylalanine catabolic process|tyrosine catabolic process	cytosol	fumarylacetoacetase activity|metal ion binding			endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ACTGTCTCTCCGTGGGTGGTG	0.577									Tyrosinemia, type 1		OREG0023354	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	80465431	C	T	80465431	3	4	782	1	0	0	0	0	1	0	0	0	5416	652	23	1	816	1	FAH	15	80465431	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		80465431	22065961	35	57896											
ADAMTS17	170691	broad.mit.edu	37	chr15	100695507	100695507	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcaagatgagtggtcatcGtcgtggttcatgcccaagct	8	10	13	10	3	2	2	2	1	0	1	4	2	2	2	1	2	2	3	1	2	2	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr15:100695507G>A	ENST00000268070.4	-	9	1305	c.1200C>T	c.(1198-1200)gaC>gaT	p.D400D		NM_139057.2	NP_620688.2	Q8TE56	ATS17_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 17	400	Peptidase M12B.				proteolysis	intracellular|proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(24)|ovary(3)|prostate(2)	50	Lung NSC(78;0.00299)|all_lung(78;0.00457)|Melanoma(26;0.00571)		OV - Ovarian serous cystadenocarcinoma(32;0.0013)|LUSC - Lung squamous cell carcinoma(107;0.132)|Lung(145;0.161)	COAD - Colon adenocarcinoma(1;0.111)|all cancers(203;0.219)		AGTGGTCATCGTCGTGGTTCA	0.557													A	100695507	G	A	100695507	2	1	782	1	0	0	0	0	0	0	0	1	262	1136	40	1		1	ADAMTS17	15	100695507	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	20230076	100695507	1835885	36	57897											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	782	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7577121	73618089	37	57898											
MYH4	4622	broad.mit.edu	37	chr17	10348674	10348674	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ttcttggtgttgatcaggctGgtgttctgtttcaaattaat	7	19	10	5	0	4	1	2	1	2	0	4	1	4	1	0	3	0	4	0	3	2	6			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:10348674G>C	ENST00000255381.2	-	36	5285	c.5175C>G	c.(5173-5175)acC>acG	p.T1725T	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017533.2	NP_060003.2	Q9Y623	MYH4_HUMAN	myosin, heavy chain 4, skeletal muscle	1725					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(4)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(13)|lung(72)|ovary(10)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	149						TGATCAGGCTGGTGTTCTGTT	0.418													C	10348674	G	C	10348674	2	2	782	1	0	0	0	0	0	0	0	1	10113	1335	47	4		4	MYH4	17	10348674	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	2771553	10348674	70846536	38	57899											
KRT34	3885	broad.mit.edu	37	chr17	39535345	39535345	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgccagctgagactccacGttggtgatcaggctctgcac	7	10	11	13	1	3	2	1	2	2	1	4	3	4	2	2	2	3	4	2	2	0	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:39535345G>A	ENST00000394001.1	-	6	1116	c.1086C>T	c.(1084-1086)aaC>aaT	p.N362N		NM_021013.3	NP_066293.2	O76011	KRT34_HUMAN	keratin 34	362	Coil 2.|Rod.				epidermis development	intermediate filament	protein binding|structural molecule activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Breast(137;0.000496)				GAGACTCCACGTTGGTGATCA	0.617													A	39535345	G	A	39535345	2	1	782	1	0	0	0	0	0	0	0	1	8529	1136	40	1		1	KRT34	17	39535345	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	29186671	39535345	41659865	39	57900											
ENGASE	64772	broad.mit.edu	37	chr17	77082120	77082120	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgagcgggaggggccccctGctctgctccagctcagctgc	4	7	14	16	1	2	1	1	1	1	0	3	2	3	2	3	3	6	4	3	3	0	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr17:77082120G>T	ENST00000579016.1	+	14	1921	c.1921G>T	c.(1921-1923)Gct>Tct	p.A641S		NM_001042573.2	NP_001036038.1	Q8NFI3	ENASE_HUMAN	endo-beta-N-acetylglucosaminidase	641						cytosol	mannosyl-glycoprotein endo-beta-N-acetylglucosaminidase activity			breast(2)|endometrium(4)|large_intestine(1)|lung(15)|prostate(2)|skin(1)	25						GGGGCCCCCTGCTCTGCTCCA	0.657													T	77082120	G	T	77082120	3	4	782	1	0	0	0	0	1	0	0	0	5159	1319	46	4	1975	4	ENGASE	17	77082120	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	37546775	77082120	4113090	40	57901											
PTPRM	5797	broad.mit.edu	37	chr18	7888149	7888149	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tgggagacctgaggggcagaGagcccacctgctcttacccc	8	6	13	14	0	1	3	0	1	1	2	1	5	1	3	5	3	3	2	5	3	1	1	rs139956933		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:7888149G>C	ENST00000332175.8	+	3	1279	c.242G>C	c.(241-243)aGa>aCa	p.R81T	PTPRM_ENST00000580170.1_Missense_Mutation_p.R81T|PTPRM_ENST00000400053.4_Missense_Mutation_p.R19T|PTPRM_ENST00000400060.4_Missense_Mutation_p.R81T	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	81	MAM.				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				GAGGGGCAGAGAGCCCACCTG	0.463													C	7888149	G	C	7888149	3	2	782	1	0	0	0	0	1	0	0	0	12894	942	33	4	252	4	PTPRM	18	7888149	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08		7888149	70189099	41	57902											
MC5R	4161	broad.mit.edu	37	chr18	13825781	13825781	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaatgaattcctcatttcAcctgcatttcttggatctca	10	15	5	11	0	4	1	3	1	2	0	6	2	5	2	2	1	2	2	2	1	2	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr18:13825781A>G	ENST00000324750.3	+	1	239	c.17A>G	c.(16-18)cAc>cGc	p.H6R		NM_005913.2	NP_005904.1	P33032	MC5R_HUMAN	melanocortin 5 receptor	6					G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocortin receptor activity|protein binding			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|upper_aerodigestive_tract(1)	41						TCCTCATTTCACCTGCATTTC	0.418													G	13825781	A	G	13825781	3	3	782	1	0	0	0	0	1	0	0	0	9442	159	6	3	19	3	MC5R	18	13825781	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08	5937632	13825781	64251467	42	57903											
SMARCA4	6597	broad.mit.edu	37	chr19	11143976	11143976	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcccccaggacctgcaagCgcaggaccgagcccaccgca	9	3	10	19	3	0	0	0	0	0	0	1	3	1	2	6	2	3	3	6	2	1	1			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:11143976C>T	ENST00000358026.2	+	26	3841	c.3557C>T	c.(3556-3558)gCg>gTg	p.A1186V	SMARCA4_ENST00000429416.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000450717.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000413806.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000589677.1_Missense_Mutation_p.A1186V|SMARCA4_ENST00000541122.2_Missense_Mutation_p.A1186V|SMARCA4_ENST00000444061.3_Missense_Mutation_p.A1186V|SMARCA4_ENST00000344626.4_Missense_Mutation_p.A1186V|SMARCA4_ENST00000590574.1_Missense_Mutation_p.A1186V	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1186	Helicase C-terminal.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.A1186G(2)|p.A1186V(1)|p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GACCTGCAAGCGCAGGACCGA	0.622			"F, N, Mis"		NSCLC								T	11143976	C	T	11143976	3	4	782	1	0	0	0	0	1	0	0	0	14864	768	27	1	3655	1	SMARCA4	19	11143976	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08		11143976	47985007	43	57904											
LENG9	94059	broad.mit.edu	37	chr19	54974125	54974125	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggtgccctgtgcagagCggccttgtgctccctcgctt	2	12	12	15	2	0	1	0	0	0	1	3	1	2	1	4	2	4	3	4	2	0	2			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:54974125C>T	ENST00000333834.4	-	1	769	c.651G>A	c.(649-651)ccG>ccA	p.P217P		NM_198988.1	NP_945339.2	Q96B70	LENG9_HUMAN	leukocyte receptor cluster (LRC) member 9	217					RNA metabolic process	intracellular	catalytic activity|nucleic acid binding|zinc ion binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(5)	11	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.134)		CTGTGCAGAGCGGCCTTGTGC	0.701													T	54974125	C	T	54974125	2	4	782	1	0	0	0	0	0	0	0	1	8784	755	27	1		1	LENG9	19	54974125	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	43830149	54974125	4154858	44	57905											
KIR2DL1	3802	broad.mit.edu	37	chr19	55284915	55284915	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cacagagaggggatgtttaaCgacactttgcgcctcattgg	10	10	12	9	2	1	1	1	0	0	1	1	4	1	2	1	3	2	1	1	3	1	4	rs144426670	byFrequency	TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55284915C>T	ENST00000336077.6	+	3	241	c.201C>T	c.(199-201)aaC>aaT	p.N67N	KIR2DL3_ENST00000434419.2_Intron|KIR2DL1_ENST00000291633.7_Silent_p.N67N|KIR3DL1_ENST00000541392.1_Intron|KIR3DL1_ENST00000402254.2_Intron|KIR2DL4_ENST00000396284.2_Intron|KIR3DL1_ENST00000538269.1_Intron|CTB-61M7.1_ENST00000400864.3_RNA	NM_014218.2	NP_055033.2	P43626	KI2L1_HUMAN	killer cell immunoglobulin-like receptor, two domains, long cytoplasmic tail, 1	67	Ig-like C2-type 1.				immune response|natural killer cell inhibitory signaling pathway	integral to plasma membrane	protein binding|receptor activity			breast(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	17				GBM - Glioblastoma multiforme(193;0.0192)		GGATGTTTAACGACACTTTGC	0.517													T	55284915	C	T	55284915	2	4	782	1	0	0	0	0	0	0	0	1	8374	535	19	1		1	KIR2DL1	19	55284915	Silent	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	310790	55284915	3844068	45	57906											
NCR1	9437	broad.mit.edu	37	chr19	55420628	55420628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtatgacacacccaccctctCggttcatcctggacccgaag	9	8	8	16	2	2	1	1	1	1	0	4	3	3	2	4	2	0	2	4	2	2	2	rs142626797		TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chr19:55420628C>T	ENST00000594765.1	+	4	405	c.380C>T	c.(379-381)tCg>tTg	p.S127L	NCR1_ENST00000291890.4_Missense_Mutation_p.S127L|NCR1_ENST00000338835.5_Missense_Mutation_p.S127L|NCR1_ENST00000357397.5_Missense_Mutation_p.S20L|NCR1_ENST00000447255.1_Missense_Mutation_p.S127L|NCR1_ENST00000350790.5_Missense_Mutation_p.S32L|NCR1_ENST00000598576.1_Missense_Mutation_p.S115L			O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	127					cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		CCCACCCTCTCGGTTCATCCT	0.483													T	55420628	C	T	55420628	3	4	782	1	0	0	0	0	1	0	0	0	10313	893	31	1	394	1	NCR1	19	55420628	Missense_Mutation	SNP	C	TCGA-VM-A8CF-01A-11D-A36O-08	135713	55420628	3708355	46	57907											
USP9X	8239	broad.mit.edu	37	chrX	41057976	41057976	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tagtagattctttgactgaaAtgtattacattggcacagca	13	14	8	6	0	1	3	0	2	1	1	1	3	1	3	0	1	2	4	0	1	5	7			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:41057976A>G	ENST00000324545.8	+	30	5209	c.4576A>G	c.(4576-4578)Atg>Gtg	p.M1526V	USP9X_ENST00000378308.2_Missense_Mutation_p.M1526V	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked						BMP signaling pathway|cell division|chromosome segregation|female gamete generation|mitosis|protein deubiquitination|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|cysteine-type endopeptidase activity|ubiquitin thiolesterase activity			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						TTTGACTGAAATGTATTACAT	0.318													G	41057976	A	G	41057976	3	3	782	1	0	0	0	0	1	0	0	0	17192	101	4	3	4690	3	USP9X	23	41057976	Missense_Mutation	SNP	A	TCGA-VM-A8CF-01A-11D-A36O-08		41057976	114212584	47	57908											
GNL3L	54552	broad.mit.edu	37	chrX	54570718	54570718	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttcggaatgagttgccaaccGtggctttcaaggccagtacc	9	10	11	11	2	1	1	1	1	0	0	2	2	1	2	4	3	3	3	4	3	4	4			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:54570718G>A	ENST00000336470.4	+	8	728	c.589G>A	c.(589-591)Gtg>Atg	p.V197M	GNL3L_ENST00000360845.2_Missense_Mutation_p.V197M|GNL3L_ENST00000489691.1_3'UTR	NM_019067.5	NP_061940.1	Q9NVN8	GNL3L_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)-like	197					ribosome biogenesis	nucleolus	GTP binding			NS(1)|breast(2)|endometrium(7)|kidney(2)|large_intestine(5)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	30						GTTGCCAACCGTGGCTTTCAA	0.547													A	54570718	G	A	54570718	3	1	782	1	0	0	0	0	1	0	0	0	6594	1145	40	1	615	1	GNL3L	23	54570718	Missense_Mutation	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	13512742	54570718	100699842	48	57909											
ATRX	546	broad.mit.edu	37	chrX	76939666	76939669	+	Frame_Shift_Del	DEL	TCAA	TCAA	-																															agttcatgttggctgtggtcTcaatcagtttttttgccttc																										TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:76939666_76939669delTCAA	ENST00000373344.5	-	9	1293_1296	c.1079_1082delTTGA	c.(1078-1083)attgagfs	p.IE360fs	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Frame_Shift_Del_p.IE322fs	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	360					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)	GGCTGTGGTCTCAATCAGTTTTTT	0.368			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76939669	TCAA	-	76939666	7	5	782	1	0	1	0	1	0	0	0	0	1213	1551	54	0	6504	0	ATRX	23	76939666	Frame_Shift_Del	DEL	TCAA	TCGA-VM-A8CF-01A-11D-A36O-08	22368948	76939666	78330894	49	57910											
FLNA	2316	broad.mit.edu	37	chrX	153586584	153586584	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	caccgtgatctggacagccaGcaggccctccccggcgtcct	6	6	11	18	3	1	1	0	1	1	0	3	2	3	2	6	3	2	1	6	3	0	0			TCGA-VM-A8CF-01A-11D-A36O-08	TCGA-VM-A8CF-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b57c2436-ff10-457e-8631-388a14287caf	385cb50e-62eb-4818-961b-d2633df5debf	g.chrX:153586584G>A	ENST00000422373.1	-	28	4986	c.4738C>T	c.(4738-4740)Ctg>Ttg	p.L1580L	FLNA_ENST00000369856.3_5'UTR|FLNA_ENST00000344736.4_Silent_p.L1580L|FLNA_ENST00000369850.3_Silent_p.L1580L|FLNA_ENST00000360319.4_Silent_p.L1580L	NM_001456.3	NP_001447.2	P21333	FLNA_HUMAN	filamin A, alpha	1580	Interaction with furin (By similarity).				actin crosslink formation|actin cytoskeleton reorganization|cell junction assembly|cytoplasmic sequestering of protein|establishment of protein localization|inhibition of adenylate cyclase activity by dopamine receptor signaling pathway|negative regulation of protein catabolic process|negative regulation of sequence-specific DNA binding transcription factor activity|platelet activation|platelet degranulation|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of transcription factor import into nucleus|protein localization at cell surface|protein stabilization|receptor clustering	cell cortex|cytosol|extracellular region|nucleus|plasma membrane	actin filament binding|Fc-gamma receptor I complex binding|glycoprotein binding|GTP-Ral binding|protein homodimerization activity|Rac GTPase binding|signal transducer activity|transcription factor binding			breast(6)	6	all_cancers(53;3.7e-16)|all_epithelial(53;2.97e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					TGGACAGCCAGCAGGCCCTCC	0.697													A	153586584	G	A	153586584	2	1	782	1	0	0	0	0	0	0	0	1	5982	962	34	2		2	FLNA	23	153586584	Silent	SNP	G	TCGA-VM-A8CF-01A-11D-A36O-08	76646918	153586584	1683976	50	57911											
REG1A	5967	broad.mit.edu	37	chr2	79349251	79349251	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggcctccatgaccccaaaaaGgtaggctgcagccttcttta	10	9	9	13	0	1	1	0	1	1	0	2	1	2	1	5	3	2	3	5	3	4	4			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:79349251G>A	ENST00000233735.1	+	4	424	c.321G>A	c.(319-321)aaG>aaA	p.K107K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	107	C-type lectin.				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						ACCCCAAAAAGGTAGGCTGCA	0.488													A	79349251	G	A	79349251	5	1	783	1	0	0	0	0	0	0	1	0	13298	1014	35	2	331	2	REG1A	2	79349251	Splice_Site	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		79349251	163850122	1	57912											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr2:209113113G>A	ENST00000415913.1	-	4	775	c.394C>T	c.(394-396)Cgt>Tgt	p.R132C	IDH1_ENST00000345146.2_Missense_Mutation_p.R132C|IDH1_ENST00000446179.1_Missense_Mutation_p.R132C	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								A	209113113	G	A	209113113	3	1	783	1	0	0	0	0	1	0	0	0	7552	1058	37	1	878	1	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	129763862	209113113	34086260	2	57913											
KY	339855	broad.mit.edu	37	chr3	134323111	134323111	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccacataattgcacttgagCgtgtactccagcactgagct	10	11	8	12	1	0	2	0	2	0	0	2	2	2	2	2	0	5	4	2	0	2	4			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr3:134323111C>T	ENST00000508956.1	-	10	1290	c.1233G>A	c.(1231-1233)acG>acA	p.T411T	KY_ENST00000423778.2_Silent_p.T432T|KY_ENST00000503669.1_3'UTR			Q8NBH2	KY_HUMAN	kyphoscoliosis peptidase	432						cytoskeleton|Z disc	peptidase activity			central_nervous_system(1)|endometrium(3)|kidney(1)|lung(12)|ovary(2)|upper_aerodigestive_tract(2)	21						TGCACTTGAGCGTGTACTCCA	0.567													T	134323111	C	T	134323111	2	4	783	1	0	0	0	0	0	0	0	1	8645	755	27	1		1	KY	3	134323111	Silent	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		134323111	63699319	3	57914											
HIST1H2AA	221613	broad.mit.edu	37	chr6	25726459	25726459	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccctgggcaatggtcacgccGcccaaaagcttattgagttc	9	9	10	13	2	1	1	1	1	0	0	2	1	1	1	3	2	1	3	3	2	4	3			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:25726459G>A	ENST00000297012.3	-	1	331	c.297C>T	c.(295-297)ggC>ggT	p.G99G		NM_170745.3	NP_734466.1	Q96QV6	H2A1A_HUMAN	histone cluster 1, H2aa	99					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(2)|large_intestine(2)|lung(8)	13						TGGTCACGCCGCCCAAAAGCT	0.532													A	25726459	G	A	25726459	2	1	783	1	0	0	0	0	0	0	0	1	7183	1074	38	1		1	HIST1H2AA	6	25726459	Silent	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		25726459	145388608	4	57915											
TCP10L2	401285	broad.mit.edu	37	chr6	167585686	167585686	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aaggagggcacccacccagaGgacccgtgcccgggagctgg	9	2	16	14	2	0	1	0	0	0	1	0	4	0	4	4	5	2	2	4	5	1	0	rs35001773		TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr6:167585686G>A	ENST00000366832.2	+	2	185	c.54G>A	c.(52-54)gaG>gaA	p.E18E		NM_001145121.1	NP_001138593.1	B9ZVM9	B9ZVM9_HUMAN	t-complex 10-like 2	18										endometrium(1)|kidney(2)|lung(3)	6						CCCACCCAGAGGACCCGTGCC	0.662													A	167585686	G	A	167585686	2	1	783	1	0	0	0	0	0	0	0	1	15812	991	35	2		2	TCP10L2	6	167585686	Silent	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	141859227	167585686	3529381	5	57916											
WEE2	494551	broad.mit.edu	37	chr7	141418984	141418984	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctacaagtgcattaagaggcTggatggatgtgtttatgcaa	12	12	12	5	0	0	1	0	0	0	1	0	3	0	3	0	3	3	4	0	3	5	4			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr7:141418984T>C	ENST00000397541.2	+	4	1104	c.698T>C	c.(697-699)cTg>cCg	p.L233P	WEE2-AS1_ENST00000495800.1_RNA|WEE2-AS1_ENST00000465110.1_RNA|WEE2-AS1_ENST00000478332.1_RNA|WEE2-AS1_ENST00000488785.1_RNA|WEE2-AS1_ENST00000471512.1_RNA|WEE2-AS1_ENST00000459753.1_RNA|WEE2-AS1_ENST00000462383.1_RNA	NM_001105558.1	NP_001099028.1	P0C1S8	WEE2_HUMAN	WEE1 homolog 2 (S. pombe)	233	Protein kinase.				egg activation|female meiosis|female pronucleus assembly|meiotic metaphase II|meiotic prophase I|mitosis|negative regulation of oocyte development|regulation of meiosis I	centrosome|nucleus	ATP binding|magnesium ion binding|non-membrane spanning protein tyrosine kinase activity|protein serine/threonine kinase activity			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31	Melanoma(164;0.0171)					ATTAAGAGGCTGGATGGATGT	0.363													C	141418984	T	C	141418984	3	2	783	1	0	0	0	0	1	0	0	0	17447	1580	55	3	712	3	WEE2	7	141418984	Missense_Mutation	SNP	T	TCGA-VM-A8CH-01A-12D-A36O-08		141418984	17719679	6	57917											
KIF24	347240	broad.mit.edu	37	chr9	34306264	34306264	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatacctgcagaatatattGagtgaggtcaactgcttctt	11	14	8	8	0	3	3	2	2	1	1	3	3	3	3	1	1	4	2	1	1	5	6			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr9:34306264G>T	ENST00000379166.2	-	3	918	c.799C>A	c.(799-801)Caa>Aaa	p.Q267K	KIF24_ENST00000402558.2_Missense_Mutation_p.Q267K|KIF24_ENST00000345050.2_Missense_Mutation_p.Q267K|KIF24_ENST00000379174.3_Missense_Mutation_p.Q267K	NM_194313.2	NP_919289.2	Q5T7B8	KIF24_HUMAN	kinesin family member 24	267	Kinesin-motor.				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(13)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	32			LUSC - Lung squamous cell carcinoma(29;0.0107)			AGAATATATTGAGTGAGGTCA	0.353													T	34306264	G	T	34306264	3	4	783	1	0	0	0	0	1	0	0	0	8350	1299	45	4	3351	4	KIF24	9	34306264	Missense_Mutation	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		34306264	106907167	7	57918											
ARHGAP32	9743	broad.mit.edu	37	chr11	128848708	128848708	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	1	0	0	0	0	tctgaaggctcactctcattCcgctgcagctttcgtttaga	7	14	8	12	2	3	2	2	1	2	1	6	2	4	2	1	1	2	5	1	1	2	4			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr11:128848708C>G	ENST00000310343.9	-	18	2036	c.2037G>C	c.(2035-2037)cgG>cgC	p.R679R	ARHGAP32_ENST00000527272.1_Silent_p.R330R|ARHGAP32_ENST00000392657.3_Silent_p.R330R|ARHGAP32_ENST00000524655.1_Silent_p.R605R	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	679					cell communication|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cell cortex|cell junction|cytosol|dendritic spine|endoplasmic reticulum membrane|endosome membrane|Golgi membrane|postsynaptic density|postsynaptic membrane	GTPase activator activity|phosphatidylinositol binding			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						CACTCTCATTCCGCTGCAGCT	0.468													G	128848708	C	G	128848708	2	3	783	1	0	0	0	0	0	0	0	1	884	842	30	4		4	ARHGAP32	11	128848708	Silent	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		128848708	6157808	8	57919											
NEDD4	4734	broad.mit.edu	37	chr15	56208601	56208601	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctaccactacaaatggctggActgcttacaaggtgaccatc	12	9	8	12	0	0	1	0	1	0	0	1	2	0	2	2	3	4	2	2	3	5	3			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:56208601A>C	ENST00000508342.1	-	1	728	c.429T>G	c.(427-429)agT>agG	p.S143R	NEDD4_ENST00000506154.1_Missense_Mutation_p.S143R|NEDD4_ENST00000435532.3_Intron|NEDD4_ENST00000338963.2_Missense_Mutation_p.S143R	NM_001284338.1	NP_001271267.1	P46934	NEDD4_HUMAN	neural precursor cell expressed, developmentally down-regulated 4, E3 ubiquitin protein ligase	143	Ser-rich.				development involved in symbiotic interaction|glucocorticoid receptor signaling pathway|negative regulation of sodium ion transport|negative regulation of transcription from RNA polymerase II promoter in response to UV-induced DNA damage|negative regulation of vascular endothelial growth factor receptor signaling pathway|neuron projection development|positive regulation of nucleocytoplasmic transport|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of protein catabolic process|progesterone receptor signaling pathway|protein K63-linked ubiquitination|protein targeting to lysosome|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|receptor catabolic process|receptor internalization|regulation of dendrite morphogenesis|response to calcium ion|transmission of virus	apicolateral plasma membrane|cell cortex|chromatin|cytosol|perinuclear region of cytoplasm|ubiquitin ligase complex	beta-2 adrenergic receptor binding|phosphoserine binding|phosphothreonine binding|proline-rich region binding|protein domain specific binding|RNA polymerase binding|sodium channel inhibitor activity|ubiquitin binding|ubiquitin-protein ligase activity			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(15)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	43				all cancers(107;0.0299)|GBM - Glioblastoma multiforme(80;0.113)		AAATGGCTGGACTGCTTACAA	0.408													C	56208601	A	C	56208601	3	2	783	1	0	0	0	0	1	0	0	0	10386	272	10	5	3630	5	NEDD4	15	56208601	Missense_Mutation	SNP	A	TCGA-VM-A8CH-01A-12D-A36O-08		56208601	46322791	9	57920											
MEGF11	84465	broad.mit.edu	37	chr15	66210374	66210374	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcgatagggctgcaggtcccGttgttggcacaggagcagag	8	8	16	9	2	0	1	0	0	0	1	2	3	1	2	1	4	2	6	1	4	1	3			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr15:66210374G>A	ENST00000395614.1	-	0	2076				MEGF11_ENST00000395625.2_Silent_p.N597N|MEGF11_ENST00000288745.3_Silent_p.N597N|MEGF11_ENST00000422354.1_Silent_p.N672N|MEGF11_ENST00000360698.4_Silent_p.N672N|MEGF11_ENST00000409699.2_Silent_p.N672N			A6BM72	MEG11_HUMAN	multiple EGF-like-domains 11							basolateral plasma membrane|integral to membrane				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(4)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	19						TGCAGGTCCCGTTGTTGGCAC	0.612													A	66210374	G	A	66210374	1	1	783	1	0	0	0	0	0	0	0	0	9536	1136	40	1		1	MEGF11	15	66210374	Translation_Start_Site	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08	10001773	66210374	36321018	10	57921											
PDILT	204474	broad.mit.edu	37	chr16	20410472	20410472	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcatctgggtcaggccagCgggcgttagcactaggagac	9	6	15	11	2	2	1	1	0	1	1	2	2	2	1	1	4	3	3	1	4	2	2			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr16:20410472C>T	ENST00000302451.4	-	2	399	c.151G>A	c.(151-153)Gct>Act	p.A51T		NM_174924.1	NP_777584.1	Q8N807	PDILT_HUMAN	protein disulfide isomerase-like, testis expressed	51					cell differentiation|cell redox homeostasis|multicellular organismal development|spermatogenesis	endoplasmic reticulum	isomerase activity	p.A51T(1)		breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(33)|prostate(3)|skin(1)|urinary_tract(1)	61						GTCAGGCCAGCGGGCGTTAGC	0.577													T	20410472	C	T	20410472	3	4	783	1	0	0	0	0	1	0	0	0	11750	768	27	1	1647	1	PDILT	16	20410472	Missense_Mutation	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08		20410472	69944281	11	57922											
WDR81	124997	broad.mit.edu	37	chr17	1633762	1633762	+	Translation_Start_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcccggaacctgctccgcctGctgacgtcttgttatgttgg	4	12	12	13	3	1	1	0	1	1	0	2	2	2	2	4	2	3	4	4	2	2	3			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:1633762G>A	ENST00000545662.1	+	0	8				WDR81_ENST00000409644.1_Silent_p.L1252L|WDR81_ENST00000437219.2_Silent_p.L49L|WDR81_ENST00000419248.1_Silent_p.L25L|RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000309182.5_Silent_p.L201L			B3KXU1	B3KXU1_HUMAN	WD repeat domain 81											cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		TGCTCCGCCTGCTGACGTCTT	0.647													A	1633762	G	A	1633762	1	1	783	1	0	0	0	0	0	0	0	0	17432	1306	46	2		2	WDR81	17	1633762	Translation_Start_Site	SNP	G	TCGA-VM-A8CH-01A-12D-A36O-08		1633762	79561448	12	57923											
KRT23	25984	broad.mit.edu	37	chr17	39092548	39092548	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gctggtgccatttcaggatgCggctttccagcttcatgttg	5	14	12	10	1	2	0	2	0	0	0	3	1	3	1	2	3	3	4	2	3	0	4			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:39092548C>T	ENST00000209718.3	-	2	732	c.308G>A	c.(307-309)cGc>cAc	p.R103H	AC004231.2_ENST00000418393.1_RNA|KRT23_ENST00000436344.3_Intron	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	103	Coil 1A.|Rod.					intermediate filament	structural molecule activity			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTTCAGGATGCGGCTTTCCAG	0.542													T	39092548	C	T	39092548	3	4	783	1	0	0	0	0	1	0	0	0	8518	768	27	1	992	1	KRT23	17	39092548	Missense_Mutation	SNP	C	TCGA-VM-A8CH-01A-12D-A36O-08	37458786	39092548	42102662	13	57924											
FASN	2194	broad.mit.edu	37	chr17	80040931	80040931	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggcagaaggtcttggagaTggccgacatcagcttgggtt	8	9	16	8	2	2	2	1	0	1	2	2	4	2	2	1	5	1	3	1	5	1	3			TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chr17:80040931T>C	ENST00000306749.2	-	33	5844	c.5626A>G	c.(5626-5628)Atc>Gtc	p.I1876V	FASN_ENST00000579758.1_5'UTR	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1876	Beta-ketoacyl reductase (By similarity).				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	GTCTTGGAGATGGCCGACATC	0.647													C	80040931	T	C	80040931	3	2	783	1	0	0	0	0	1	0	0	0	5732	1464	51	3	1953	3	FASN	17	80040931	Missense_Mutation	SNP	T	TCGA-VM-A8CH-01A-12D-A36O-08	40948383	80040931	1154279	14	57925											
ATRX	546	broad.mit.edu	37	chrX	76938201	76938202	+	Frame_Shift_Del	DEL	AG	AG	-																															ctgtgtttctcatcttcagaAgagtcaaaatcttttgtatt																										TCGA-VM-A8CH-01A-12D-A36O-08	TCGA-VM-A8CH-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	15818586-d771-4a30-ab11-16d2fc88de2f	a34a7eab-90c7-4687-b11c-cac4197ac6e2	g.chrX:76938201_76938202delAG	ENST00000373344.5	-	9	2760_2761	c.2546_2547delCT	c.(2545-2547)tctfs	p.S850fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.S812fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	850					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)	CATCTTCAGAAGAGTCAAAATC	0.342			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76938202	AG	-	76938201	7	5	783	1	0	1	0	1	0	0	0	0	1213	59	3	0	5039	0	ATRX	23	76938201	Frame_Shift_Del	DEL	AG	TCGA-VM-A8CH-01A-12D-A36O-08		76938201	78332359	15	57926											
SNX27	81609	broad.mit.edu	37	chr1	151640951	151640951	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttttgtctttcctttagtacGtaaattggcacctaatgagt	9	18	7	7	1	1	1	0	1	1	0	2	1	2	1	2	1	1	3	2	1	5	9			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:151640951G>A	ENST00000368843.3	+	7	1109	c.989G>A	c.(988-990)cGt>cAt	p.R330H	SNX27_ENST00000368838.1_Missense_Mutation_p.R237H|SNX27_ENST00000482791.1_3'UTR|SNX27_ENST00000458013.2_Missense_Mutation_p.R330H	NM_030918.5	NP_112180.4	Q96L92	SNX27_HUMAN	sorting nexin family member 27	330	Ras-associating.				cell communication|protein transport|signal transduction	cytosol|early endosome	phosphatidylinositol binding|protein binding			central_nervous_system(1)|large_intestine(2)|ovary(2)	5	Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		LUSC - Lung squamous cell carcinoma(543;0.181)			CCTTTAGTACGTAAATTGGCA	0.378													A	151640951	G	A	151640951	3	1	784	1	0	0	0	0	1	0	0	0	14991	1145	40	1	1015	1	SNX27	1	151640951	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		151640951	97609670	1	57927											
FLG	2312	broad.mit.edu	37	chr1	152280155	152280155	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tccagaccttcctgctgaccGgccacgtgtggactcttggt	5	11	11	14	2	1	2	0	1	1	1	3	3	3	3	5	3	1	1	5	3	0	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:152280155G>A	ENST00000368799.1	-	3	7242	c.7207C>T	c.(7207-7209)Cgg>Tgg	p.R2403W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2403	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCTGCTGACCGGCCACGTGTG	0.597									Ichthyosis				A	152280155	G	A	152280155	3	1	784	1	0	0	0	0	1	0	0	0	5971	1115	39	1	4982	1	FLG	1	152280155	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	639204	152280155	96970466	2	57928											
HAX1	10456	broad.mit.edu	37	chr1	154246290	154246290	+	Translation_Start_Site	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagacacctggtgagagactAcgggagggacagacacttcg	12	5	15	9	2	0	4	0	1	0	3	1	8	0	6	1	3	1	0	1	3	1	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:154246290A>T	ENST00000532105.1	+	0	150				HAX1_ENST00000483970.2_Silent_p.L127L|HAX1_ENST00000328703.7_Silent_p.L119L|HAX1_ENST00000457918.2_Silent_p.L71L			O00165	HAX1_HUMAN	HCLS1 associated protein X-1							actin cytoskeleton|cytoplasmic membrane-bounded vesicle|lamellipodium|mitochondrion|nuclear membrane|sarcoplasmic reticulum|soluble fraction	interleukin-1 binding|protein N-terminus binding			cervix(1)|endometrium(2)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)	15	all_lung(78;2.62e-30)|Lung NSC(65;3.94e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			GTGAGAGACTACGGGAGGGAC	0.512									Kostmann syndrome				T	154246290	A	T	154246290	1	4	784	1	0	0	0	0	0	0	0	0	7030	378	14	5		5	HAX1	1	154246290	Translation_Start_Site	SNP	A	TCGA-VV-A829-01A-21D-A36O-08	1966135	154246290	95004331	3	57929											
CFHR4	10877	broad.mit.edu	37	chr1	196887466	196887466	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gtgtaaattgggatataatgCgaatacatcagttctatcat	14	14	8	5	1	3	0	2	0	1	0	3	2	3	1	0	1	2	2	0	1	7	7			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr1:196887466C>T	ENST00000367416.2	+	10	1801	c.1664C>T	c.(1663-1665)gCg>gTg	p.A555V	CFHR4_ENST00000367418.2_Missense_Mutation_p.A309V|CFHR2_ENST00000367421.3_Intron|CFHR4_ENST00000251424.4_Missense_Mutation_p.A309V|CFHR4_ENST00000608469.1_Missense_Mutation_p.A179V	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1			complement factor H-related 4											NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						GGATATAATGCGAATACATCA	0.338													T	196887466	C	T	196887466	3	4	784	1	0	0	0	0	1	0	0	0	3317	768	27	1	948	1	CFHR4	1	196887466	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	42641176	196887466	52363155	4	57930											
RAD51AP2	729475	broad.mit.edu	37	chr2	17698690	17698690	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ttttggctactgagtgatggGtagtcattttcataacattt	9	18	9	5	0	2	2	2	2	0	0	2	2	2	2	0	2	2	2	0	2	3	8			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:17698690G>A	ENST00000399080.2	-	1	1016	c.993C>T	c.(991-993)taC>taT	p.Y331Y		NM_001099218.2	NP_001092688.1	Q09MP3	R51A2_HUMAN	RAD51 associated protein 2	331										endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(10)|liver(1)|lung(17)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.158)					TGAGTGATGGGTAGTCATTTT	0.343													A	17698690	G	A	17698690	2	1	784	1	0	0	0	0	0	0	0	1	13075	1256	44	2		2	RAD51AP2	2	17698690	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		17698690	225500683	5	57931											
DYSF	8291	broad.mit.edu	37	chr2	71896841	71896841	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcattttccccttcgactacCtgccagctgagcaagtctgt	7	13	7	14	1	2	1	1	1	1	0	4	2	3	1	4	0	4	2	4	0	2	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:71896841C>T	ENST00000258104.3	+	50	5909	c.5632C>T	c.(5632-5634)Ctg>Ttg	p.L1878L	DYSF_ENST00000410020.3_Silent_p.L1917L|DYSF_ENST00000409582.3_Silent_p.L1916L|DYSF_ENST00000409366.1_Silent_p.L1900L|DYSF_ENST00000394120.2_Silent_p.L1879L|DYSF_ENST00000409651.1_Silent_p.L1910L|DYSF_ENST00000410041.1_Silent_p.L1896L|DYSF_ENST00000413539.2_Silent_p.L1909L|DYSF_ENST00000409744.1_Silent_p.L1886L|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000429174.2_Silent_p.L1899L|DYSF_ENST00000409762.1_Silent_p.L1895L	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1878						cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTTCGACTACCTGCCAGCTGA	0.512													T	71896841	C	T	71896841	2	4	784	1	0	0	0	0	0	0	0	1	4898	680	24	2		2	DYSF	2	71896841	Silent	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	54198151	71896841	171302532	6	57932											
C2orf76	130355	broad.mit.edu	37	chr2	120078765	120078765	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgaatggtggtggcaggttgGtccttaaagggatatctaca	10	12	14	5	0	1	1	0	1	1	0	2	2	2	2	1	6	1	2	1	6	5	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:120078765G>C	ENST00000409466.2	-	4	670	c.149C>G	c.(148-150)aCc>aGc	p.T50S	C2orf76_ENST00000409877.1_Missense_Mutation_p.T50S|C2orf76_ENST00000409523.1_Missense_Mutation_p.T50S|C2orf76_ENST00000334816.7_Missense_Mutation_p.T50S			Q3KRA6	CB076_HUMAN	chromosome 2 open reading frame 76	50										large_intestine(1)|lung(3)|pancreas(1)	5						TGGCAGGTTGGTCCTTAAAGG	0.269													C	120078765	G	C	120078765	3	2	784	1	0	0	0	0	1	0	0	0	2214	1261	44	4	247	4	C2orf76	2	120078765	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	48181924	120078765	123120608	7	57933											
RAB3GAP1	22930	broad.mit.edu	37	chr2	135911420	135911420	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctagaaggcaaaggagactcTttgatgatacacgggaagca	15	7	12	7	1	1	4	0	2	1	2	1	6	1	5	0	3	2	2	0	3	5	3			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr2:135911420T>C	ENST00000264158.8	+	19	2306	c.2263T>C	c.(2263-2265)Ttt>Ctt	p.F755L	RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000539493.1_Missense_Mutation_p.F711L|ZRANB3_ENST00000412849.1_Intron|RAB3GAP1_ENST00000442034.1_Missense_Mutation_p.F755L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	755						centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		AAGGAGACTCTTTGATGATAC	0.418													C	135911420	T	C	135911420	3	2	784	1	0	0	0	0	1	0	0	0	13023	1609	56	3	2337	3	RAB3GAP1	2	135911420	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	15832655	135911420	107287953	8	57934											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	784	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	73201692	209113112	34086261	9	57935											
FAM194A	131831	broad.mit.edu	37	chr3	150396333	150396333	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ataagaaattgtttttaagcGctttgaatctagtgggaaaa	15	14	9	3	1	1	2	0	1	1	1	1	3	1	3	0	1	1	2	0	1	7	7			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:150396333G>A	ENST00000295910.6	-	10	1172	c.1120C>T	c.(1120-1122)Cgc>Tgc	p.R374C	FAM194A_ENST00000491361.1_Missense_Mutation_p.R228C	NM_152394.3	NP_689607.2	Q7L0X2	F194A_HUMAN	family with sequence similarity 194, member A	374										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GTTTTTAAGCGCTTTGAATCT	0.269													A	150396333	G	A	150396333	3	1	784	1	0	0	0	0	1	0	0	0	5573	1087	38	1	891	1	FAM194A	3	150396333	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		150396333	47626097	10	57936											
RTP1	132112	broad.mit.edu	37	chr3	186917640	186917640	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ggcaccgcggagagttctgcGaggcctgccaggagggcatc	7	5	17	12	3	1	1	0	0	1	1	2	4	1	2	3	5	2	3	3	5	0	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr3:186917640G>A	ENST00000312295.4	+	2	604	c.574G>A	c.(574-576)Gag>Aag	p.E192K	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	192					protein insertion into membrane	cell surface|integral to membrane|plasma membrane	olfactory receptor binding			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGAGTTCTGCGAGGCCTGCCA	0.701													A	186917640	G	A	186917640	3	1	784	1	0	0	0	0	1	0	0	0	13824	1059	37	1	580	1	RTP1	3	186917640	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	36521307	186917640	11104790	11	57937											
MAN2B2	23324	broad.mit.edu	37	chr4	6596402	6596402	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	actacttccgtgccctgcacGctctcaatgtcacctggcgt	6	11	8	16	3	2	0	2	0	1	0	4	0	3	0	3	1	3	2	3	1	2	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:6596402G>A	ENST00000285599.3	+	7	1036	c.1000G>A	c.(1000-1002)Gct>Act	p.A334T	MAN2B2_ENST00000504248.1_Missense_Mutation_p.A283T	NM_015274.1	NP_056089.1	Q9Y2E5	MA2B2_HUMAN	mannosidase, alpha, class 2B, member 2	334					mannose metabolic process	extracellular region	alpha-mannosidase activity|carbohydrate binding|zinc ion binding			breast(2)|cervix(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(9)|ovary(4)|prostate(2)|skin(2)|urinary_tract(1)	30						TGCCCTGCACGCTCTCAATGT	0.622													A	6596402	G	A	6596402	3	1	784	1	0	0	0	0	1	0	0	0	9292	1087	38	1	1026	1	MAN2B2	4	6596402	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		6596402	184557874	12	57938											
ARSJ	79642	broad.mit.edu	37	chr4	114899934	114899934	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gctagcatctttccaggacaGacacaggcctgtggagaagg	11	7	13	10	0	1	2	0	0	1	2	2	4	2	3	2	4	1	2	2	4	2	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:114899934G>A	ENST00000315366.7	-	1	923	c.57C>T	c.(55-57)gtC>gtT	p.V19V	ARSJ_ENST00000503013.2_5'UTR|ARSJ_ENST00000541197.1_Silent_p.V19V	NM_024590.3	NP_078866.3	Q5FYB0	ARSJ_HUMAN	arylsulfatase family, member J	19						extracellular region	arylsulfatase activity|metal ion binding			endometrium(1)|large_intestine(5)|lung(7)|ovary(2)|prostate(3)|skin(2)|urinary_tract(1)	21		Ovarian(17;0.0035)|Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00194)		TTCCAGGACAGACACAGGCCT	0.627													A	114899934	G	A	114899934	2	1	784	1	0	0	0	0	0	0	0	1	1000	929	33	2		2	ARSJ	4	114899934	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	108303532	114899934	76254342	13	57939											
EDNRA	1909	broad.mit.edu	37	chr4	148407074	148407074	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aaattacttcagctttcaaaTacattaacactgtgatatct	15	15	3	8	0	3	1	2	1	1	0	3	1	3	1	0	0	4	1	0	0	6	6			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr4:148407074T>G	ENST00000324300.5	+	2	756	c.241T>G	c.(241-243)Tac>Gac	p.Y81D	EDNRA_ENST00000506066.1_Missense_Mutation_p.Y81D|EDNRA_ENST00000511804.1_Intron|EDNRA_ENST00000358556.4_Missense_Mutation_p.Y81D|EDNRA_ENST00000339690.5_Missense_Mutation_p.Y81D	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	81					activation of adenylate cyclase activity|artery smooth muscle contraction|cell proliferation|glucose transport|respiratory gaseous exchange	integral to plasma membrane	endothelin-A receptor activity|phosphatidylinositol phospholipase C activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Bosentan(DB00559)	AGCTTTCAAATACATTAACAC	0.418													G	148407074	T	G	148407074	3	3	784	1	0	0	0	0	1	0	0	0	4958	1406	49	5	243	5	EDNRA	4	148407074	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	33507140	148407074	42747202	14	57940											
DST	667	broad.mit.edu	37	chr6	56484991	56484994	+	Frame_Shift_Del	DEL	TCTT	TCTT	-																															gagttcttcctcattgtctcTctttcttcttaattcttcca																										TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:56484991_56484994delTCTT	ENST00000370765.6	-	23	3945_3948	c.3838_3841delAAGA	c.(3838-3843)aagagafs	p.KR1280fs	DST_ENST00000370788.2_Intron|DST_ENST00000370754.5_Intron|DST_ENST00000361203.3_Intron|DST_ENST00000244364.6_Intron|DST_ENST00000370769.4_Intron|DST_ENST00000446842.2_Intron|DST_ENST00000312431.6_Intron|DST_ENST00000421834.2_Intron	NM_001723.5	NP_001714.1	Q03001	DYST_HUMAN	dystonin	4932					cell adhesion|cell cycle arrest|cell motility|hemidesmosome assembly|integrin-mediated signaling pathway|intermediate filament cytoskeleton organization|maintenance of cell polarity|microtubule cytoskeleton organization|response to wounding	actin cytoskeleton|axon|axon part|basement membrane|cell cortex|cell leading edge|cytoplasmic membrane-bounded vesicle|endoplasmic reticulum membrane|hemidesmosome|integral to membrane|intermediate filament|intermediate filament cytoskeleton|microtubule cytoskeleton|microtubule plus end|nuclear envelope|sarcomere|Z disc	actin binding|calcium ion binding|integrin binding|microtubule plus-end binding|protein binding|protein C-terminus binding|protein homodimerization activity			NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TCATTGTCTCTCTTTCTTCTTAAT	0.338													-	56484994	TCTT	-	56484991	7	5	784	1	0	1	0	1	0	0	0	0	4822	1559	54	0	16562	0	DST	6	56484991	Frame_Shift_Del	DEL	TCTT	TCGA-VV-A829-01A-21D-A36O-08		56484991	114630076	15	57941											
ESR1	2099	broad.mit.edu	37	chr6	152419955	152419955	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagatgctggacgcccacCgcctacatgcgcccactagc	8	6	11	16	3	0	1	0	0	0	1	0	3	0	2	4	2	4	1	4	2	2	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:152419955C>T	ENST00000440973.1	+	10	2012	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	ESR1_ENST00000406599.1_Missense_Mutation_p.R287C|ESR1_ENST00000206249.3_Missense_Mutation_p.R548C|ESR1_ENST00000338799.5_Missense_Mutation_p.R548C|ESR1_ENST00000427531.2_Intron|ESR1_ENST00000456483.2_Missense_Mutation_p.R436C|ESR1_ENST00000443427.1_Missense_Mutation_p.R548C	NM_001122742.1	NP_001116214.1	P03372	ESR1_HUMAN	estrogen receptor 1	548	Interaction with AKAP13.|Steroid-binding.				positive regulation of retinoic acid receptor signaling pathway|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to estradiol stimulus	chromatin remodeling complex|cytoplasm|nucleoplasm	beta-catenin binding|enzyme binding|estrogen receptor activity|estrogen response element binding|nitric-oxide synthase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid binding|zinc ion binding			NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(19)|ovary(1)|prostate(2)|skin(1)	49		Ovarian(120;0.0448)	BRCA - Breast invasive adenocarcinoma(37;0.0841)	OV - Ovarian serous cystadenocarcinoma(155;4.55e-10)	Chlorotrianisene(DB00269)|Clomifene(DB00882)|Conjugated Estrogens(DB00286)|Danazol(DB01406)|Desogestrel(DB00304)|Dienestrol(DB00890)|Diethylstilbestrol(DB00255)|Dromostanolone(DB00858)|Drospirenone(DB01395)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Ethynodiol Diacetate(DB00823)|Etonogestrel(DB00294)|Fluoxymesterone(DB01185)|Fulvestrant(DB00947)|Letrozole(DB01006)|Levonorgestrel(DB00367)|Medroxyprogesterone(DB00603)|Megestrol(DB00351)|Melatonin(DB01065)|Mestranol(DB01357)|Naloxone(DB01183)|Norgestimate(DB00957)|Norgestrel(DB00506)|Progesterone(DB00396)|Quinestrol(DB04575)|Raloxifene(DB00481)|Tamoxifen(DB00675)|Toremifene(DB00539)	GGACGCCCACCGCCTACATGC	0.577													T	152419955	C	T	152419955	3	4	784	1	0	0	0	0	1	0	0	0	5297	652	23	1	1672	1	ESR1	6	152419955	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	95934964	152419955	18695112	16	57942											
FNDC1	84624	broad.mit.edu	37	chr6	159657261	159657261	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	gtgtaggttataatggcagaCcaaatgtagaagggaaagtc	15	9	13	4	0	0	2	0	0	0	2	1	3	0	3	1	3	0	4	1	3	7	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr6:159657261C>G	ENST00000297267.9	+	12	4182	c.3982C>G	c.(3982-3984)Cca>Gca	p.P1328A	FNDC1_ENST00000340366.6_Missense_Mutation_p.P1265A	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	1328						extracellular region				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		TAATGGCAGACCAAATGTAGA	0.408													G	159657261	C	G	159657261	3	3	784	1	0	0	0	0	1	0	0	0	6017	507	18	4	4028	4	FNDC1	6	159657261	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	7237306	159657261	11457806	17	57943											
ZAN	7455	broad.mit.edu	37	chr7	100348461	100348461	+	RNA	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaacgcgtggggtctcagcGcccttactggcagaacacct	9	7	12	13	3	1	1	1	0	1	1	2	2	1	1	2	3	4	1	2	3	3	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr7:100348461G>A	ENST00000542585.1	+	0	1611				ZAN_ENST00000349350.6_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000348028.3_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA	NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			GGGTCTCAGCGCCCTTACTGG	0.622													A	100348461	G	A	100348461	1	1	784	0	1	0	0	0	0	0	0	0	17615	1087	38	1		1	ZAN	7	100348461	RNA	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		100348461	58790202	18	57944											
NOTCH1	4851	broad.mit.edu	37	chr9	139407856	139407856	+	Frame_Shift_Del	DEL	C	C	-																															ccactcaccgctgaagccctCccggcaggtgcacacgtagc																										TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr9:139407856delC	ENST00000277541.6	-	14	2416	c.2341delG	c.(2341-2343)gagfs	p.E781fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	781	EGF-like 20.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		CTGAAGCCCTCCCGGCAGGTG	0.607			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139407856	C	-	139407856	7	5	784	1	0	1	0	1	0	0	0	0	10623	864	30	0	5410	0	NOTCH1	9	139407856	Frame_Shift_Del	DEL	C	TCGA-VV-A829-01A-21D-A36O-08		139407856	1805575	19	57945											
PPRC1	23082	broad.mit.edu	37	chr10	103900609	103900609	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caactgggaagtggcctagcCttccagagactcccacaggg	10	6	12	13	0	0	1	0	0	0	1	2	3	2	2	4	3	2	0	4	3	3	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr10:103900609C>T	ENST00000278070.2	+	5	2383	c.2344C>T	c.(2344-2346)Ctt>Ttt	p.L782F	PPRC1_ENST00000413464.2_Missense_Mutation_p.L782F	NM_015062.3	NP_055877.3	Q5VV67	PPRC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator-related 1	782	Pro-rich.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding			central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(10)|lung(19)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	56		Colorectal(252;0.122)		Epithelial(162;4.97e-08)|all cancers(201;8.99e-07)		GTGGCCTAGCCTTCCAGAGAC	0.582													T	103900609	C	T	103900609	3	4	784	1	0	0	0	0	1	0	0	0	12492	681	24	2	2362	2	PPRC1	10	103900609	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		103900609	31634138	20	57946											
OR5AS1	219447	broad.mit.edu	37	chr11	55797924	55797924	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtaattacaccatgccaacTgagttcctatttgttggatt	11	15	7	8	0	0	1	0	1	0	0	1	2	1	2	3	1	3	3	3	1	4	7			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:55797924T>C	ENST00000313555.1	+	1	30	c.30T>C	c.(28-30)acT>acC	p.T10T		NM_001001921.1	NP_001001921.1	Q8N127	O5AS1_HUMAN	olfactory receptor, family 5, subfamily AS, member 1	10					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(7)|large_intestine(7)|liver(1)|lung(22)|ovary(3)|prostate(4)|skin(3)|stomach(1)	48	Esophageal squamous(21;0.00693)					CCATGCCAACTGAGTTCCTAT	0.383													C	55797924	T	C	55797924	2	2	784	1	0	0	0	0	0	0	0	1	11222	1567	55	3		3	OR5AS1	11	55797924	Silent	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		55797924	79208592	21	57947											
APOA4	337	broad.mit.edu	37	chr11	116692097	116692097	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctcctgcgtgtcctgagcaTagggagccaggctgcggcgc	5	8	15	13	3	1	1	0	1	1	0	3	2	2	2	3	3	4	2	3	3	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr11:116692097T>C	ENST00000357780.3	-	3	791	c.677A>G	c.(676-678)tAt>tGt	p.Y226C		NM_000482.3	NP_000473.2			apolipoprotein A-IV											cervix(1)|endometrium(2)|lung(10)|prostate(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	20	all_hematologic(175;0.0487)	Breast(348;0.0126)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0564)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;8.54e-06)|Epithelial(105;1.62e-05)|all cancers(92;0.000165)|OV - Ovarian serous cystadenocarcinoma(223;0.148)		GTCCTGAGCATAGGGAGCCAG	0.592													C	116692097	T	C	116692097	3	2	784	1	0	0	0	0	1	0	0	0	786	1406	49	3	517	3	APOA4	11	116692097	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	60894173	116692097	18314419	22	57948											
TAS2R7	50837	broad.mit.edu	37	chr12	10954500	10954500	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgggcttctgtgctggggtCtctgcaccctgtggcactga	4	12	14	11	0	2	1	0	1	2	0	3	1	2	1	1	4	2	4	1	4	0	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:10954500C>T	ENST00000240687.2	-	1	726	c.670G>A	c.(670-672)Gac>Aac	p.D224N		NM_023919.2	NP_076408.1	Q9NYW3	TA2R7_HUMAN	taste receptor, type 2, member 7	224					sensory perception of taste	integral to membrane	taste receptor activity			kidney(1)|large_intestine(1)|lung(3)|skin(2)|stomach(3)	10						GTGCTGGGGTCTCTGCACCCT	0.517													T	10954500	C	T	10954500	3	4	784	1	0	0	0	0	1	0	0	0	15683	913	32	2	290	2	TAS2R7	12	10954500	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		10954500	122897395	23	57949											
ESYT1	23344	broad.mit.edu	37	chr12	56525276	56525276	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctcagctacatggcgttttgCgggtgatactggagccactc	7	11	12	11	2	1	1	1	1	0	0	2	2	1	2	1	3	5	2	1	3	2	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:56525276C>T	ENST00000394048.5	+	6	994	c.730C>T	c.(730-732)Cgg>Tgg	p.R244W	ESYT1_ENST00000541590.1_Missense_Mutation_p.R244W|ESYT1_ENST00000267113.4_Missense_Mutation_p.R244W	NM_001184796.1|NM_015292.2	NP_001171725.1|NP_056107.1	Q9BSJ8	ESYT1_HUMAN	extended synaptotagmin-like protein 1	244						integral to membrane				breast(2)|endometrium(2)|large_intestine(4)|lung(10)|ovary(5)|prostate(1)|skin(3)|urinary_tract(1)	28						TGGCGTTTTGCGGGTGATACT	0.517													T	56525276	C	T	56525276	3	4	784	1	0	0	0	0	1	0	0	0	5305	759	27	1	752	1	ESYT1	12	56525276	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	45570776	56525276	77326619	24	57950											
TMPO	7112	broad.mit.edu	37	chr12	98927458	98927458	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	cactcactaccttaggtctaGaagtggctaagcaatcacag	13	9	8	11	0	3	1	2	0	1	1	3	1	3	1	1	2	2	2	1	2	6	4			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr12:98927458G>A	ENST00000266732.4	+	4	1661	c.1423G>A	c.(1423-1425)Gaa>Aaa	p.E475K	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	0						integral to membrane|nuclear inner membrane	DNA binding|lamin binding	p.E475*(1)		breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						CTTAGGTCTAGAAGTGGCTAA	0.388													A	98927458	G	A	98927458	3	1	784	1	0	0	0	0	1	0	0	0	16337	943	33	2	1437	2	TMPO	12	98927458	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	42402182	98927458	34924437	25	57951											
APEX1	328	broad.mit.edu	37	chr14	20925577	20925577	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gattactttttgttgtcccaCtctctgttacctgcattgtg	5	19	7	10	0	1	0	0	0	1	0	3	1	2	0	2	0	3	3	2	0	2	6			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr14:20925577C>G	ENST00000216714.3	+	5	1135	c.867C>G	c.(865-867)caC>caG	p.H289Q	APEX1_ENST00000398030.4_Missense_Mutation_p.H289Q|APEX1_ENST00000555414.1_Missense_Mutation_p.H289Q|APEX1_ENST00000557054.1_3'UTR	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	289	Mitochondrial targeting sequence (MTS).				base-excision repair|DNA demethylation|DNA recombination|positive regulation of anti-apoptosis|positive regulation of DNA repair|regulation of mRNA stability|regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|endoplasmic reticulum|mitochondrion|nuclear speck|nucleolus|perinuclear region of cytoplasm|ribosome	3'-5' exonuclease activity|chromatin DNA binding|damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|metal ion binding|oxidoreductase activity|phosphodiesterase I activity|protein binding|ribonuclease H activity|RNA binding|site-specific endodeoxyribonuclease activity, specific for altered base|transcription coactivator activity|transcription corepressor activity|uracil DNA N-glycosylase activity			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	TGTTGTCCCACTCTCTGTTAC	0.488								Other BER factors					G	20925577	C	G	20925577	3	3	784	1	0	0	0	0	1	0	0	0	771	564	20	4	881	4	APEX1	14	20925577	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		20925577	86423963	26	57952											
DIS3L	115752	broad.mit.edu	37	chr15	66618626	66618626	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atcaggccttgctgcgccagCaccctcctccacaccaggag	8	6	9	18	1	1	0	1	0	0	0	3	1	3	1	6	2	3	2	6	2	0	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr15:66618626C>T	ENST00000319194.5	+	12	2137	c.1876C>T	c.(1876-1878)Cac>Tac	p.H626Y	DIS3L_ENST00000319212.4_Missense_Mutation_p.H709Y|RP11-352G18.2_ENST00000565993.1_RNA	NM_133375.3	NP_588616.1	Q8TF46	DI3L1_HUMAN	DIS3 mitotic control homolog (S. cerevisiae)-like	709					rRNA catabolic process	cytoplasm|exosome (RNase complex)	exonuclease activity|protein binding|ribonuclease activity|RNA binding			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						GCTGCGCCAGCACCCTCCTCC	0.537													T	66618626	C	T	66618626	3	4	784	1	0	0	0	0	1	0	0	0	4575	710	25	2	2171	2	DIS3L	15	66618626	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		66618626	35912766	27	57953											
ANKS4B	257629	broad.mit.edu	37	chr16	21245084	21245084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tactcgttaccaccaagctgCtagtgatagttacctggaac	11	11	8	11	1	0	1	0	1	0	0	1	2	0	2	3	1	6	4	3	1	7	5			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr16:21245084C>T	ENST00000311620.5	+	1	99	c.26C>T	c.(25-27)gCt>gTt	p.A9V		NM_145865.2	NP_665872.2	Q8N8V4	ANS4B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 4B	9										NS(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|lung(11)|ovary(2)	20				GBM - Glioblastoma multiforme(48;0.0565)		CACCAAGCTGCTAGTGATAGT	0.488													T	21245084	C	T	21245084	3	4	784	1	0	0	0	0	1	0	0	0	691	797	28	2	28	2	ANKS4B	16	21245084	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		21245084	69109669	28	57954											
EIF4A1	1973	broad.mit.edu	37	chr17	7481180	7481180	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaaaggaacgagacgtgatTatgagggagtttcgttctgg	12	10	14	5	3	1	3	0	2	1	1	2	6	1	5	0	3	1	2	0	3	4	3			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:7481180T>G	ENST00000293831.8	+	9	958	c.942T>G	c.(940-942)atT>atG	p.I314M	SENP3-EIF4A1_ENST00000579777.1_RNA|EIF4A1_ENST00000577269.1_Missense_Mutation_p.I314M|EIF4A1_ENST00000581808.1_3'UTR|EIF4A1_ENST00000582746.1_Missense_Mutation_p.I314M	NM_001416.3	NP_001407.1	P60842	IF4A1_HUMAN	eukaryotic translation initiation factor 4A1	314	Helicase C-terminal.				nuclear-transcribed mRNA poly(A) tail shortening	cytosol|eukaryotic translation initiation factor 4F complex	ATP binding|ATP-dependent helicase activity|mRNA binding|protein binding|RNA cap binding|translation initiation factor activity			NS(1)|breast(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|lung(8)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	22						GAGACGTGATTATGAGGGAGT	0.498													G	7481180	T	G	7481180	3	3	784	1	0	0	0	0	1	0	0	0	5065	1742	61	5	976	5	EIF4A1	17	7481180	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		7481180	73714030	29	57955											
MRPL45	84311	broad.mit.edu	37	chr17	36453192	36453192	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggttctcttgtttatcgaggTttttgggctggtggtttcgg	2	19	15	5	2	1	0	0	0	1	0	4	1	1	0	0	6	0	5	0	6	1	7	rs139299251	by1000genomes	TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:36453192T>G	ENST00000312513.5	+	1	204	c.43T>G	c.(43-45)Ttt>Gtt	p.F15V		NM_032351.4	NP_115727.4	Q9BRJ2	RM45_HUMAN	mitochondrial ribosomal protein L45	15					intracellular protein transport|translation	mitochondrial inner membrane presequence translocase complex|ribosome	P-P-bond-hydrolysis-driven protein transmembrane transporter activity|structural constituent of ribosome			breast(3)|endometrium(2)|large_intestine(2)|lung(5)|skin(1)	13	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				TTTATCGAGGTTTTTGGGCTG	0.582													G	36453192	T	G	36453192	3	3	784	1	0	0	0	0	1	0	0	0	9885	1725	60	5		5	MRPL45	17	36453192	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08	28972012	36453192	44742018	30	57956											
TLK2	11011	broad.mit.edu	37	chr17	60650604	60650604	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	aaaggataaattcacagaggGaagagatagaaagacaacgg	21	4	12	4	1	1	4	1	0	0	4	1	7	1	6	0	3	1	0	0	3	7	3			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr17:60650604G>A	ENST00000582809.1	+	13	1253	c.550G>A	c.(550-552)Gaa>Aaa	p.E184K	TLK2_ENST00000326270.9_Missense_Mutation_p.E333K|TLK2_ENST00000343388.7_Missense_Mutation_p.E301K|TLK2_ENST00000346027.5_Missense_Mutation_p.E333K|TLK2_ENST00000542523.1_Missense_Mutation_p.E301K			Q86UE8	TLK2_HUMAN	tousled-like kinase 2	333					cell cycle|chromatin modification|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity			NS(1)|breast(2)|central_nervous_system(1)|endometrium(10)|kidney(4)|large_intestine(6)|liver(2)|lung(10)|prostate(1)|stomach(1)|urinary_tract(1)	39						TTCACAGAGGGAAGAGATAGA	0.428													A	60650604	G	A	60650604	3	1	784	1	0	0	0	0	1	0	0	0	16044	1175	41	2	1039	2	TLK2	17	60650604	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	24197412	60650604	20544606	31	57957											
STK11	6794	broad.mit.edu	37	chr19	1219351	1219351	+	Frame_Shift_Del	DEL	G	G	-																															tgatggagtactgcgtgtgtGgcatgcaggaaatgctggac																								rs137853081		TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:1219351delG	ENST00000326873.7	+	3	1576	c.403delG	c.(403-405)ggcfs	p.G135fs	STK11_ENST00000585748.1_3'UTR	NM_000455.4	NP_000446.1	Q15831	STK11_HUMAN	serine/threonine kinase 11	135	Protein kinase.		G -> R (in melanoma; sporadic malignant; somatic mutation).		anoikis|cell cycle arrest|energy reserve metabolic process|insulin receptor signaling pathway|positive regulation of transforming growth factor beta receptor signaling pathway|regulation of fatty acid biosynthetic process|regulation of fatty acid oxidation	cytosol|nucleus	ATP binding|magnesium ion binding|protein serine/threonine kinase activity	p.0?(20)|p.?(2)|p.G135R(1)		biliary_tract(1)|breast(3)|cervix(35)|gastrointestinal_tract_(site_indeterminate)(5)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(14)|liver(1)|lung(219)|oesophagus(1)|ovary(4)|pancreas(6)|prostate(2)|skin(15)|small_intestine(1)|stomach(9)|testis(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	328		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Renal(1328;0.0183)|Hepatocellular(1079;0.137)		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)|Lung(535;0.00942)|STAD - Stomach adenocarcinoma(1328;0.18)		CTGCGTGTGTGGCATGCAGGA	0.682		14	"D, Mis, N, F, S"		"NSCLC, pancreatic"	"jejunal harmartoma, ovarian, testicular, pancreatic"			Peutz-Jeghers syndrome	TSP Lung(3;<1E-08)			-	1219351	G	-	1219351	7	5	784	1	0	1	0	1	0	0	0	0	15383	1348	47	0	413	0	STK11	19	1219351	Frame_Shift_Del	DEL	G	TCGA-VV-A829-01A-21D-A36O-08		1219351	57909632	32	57958											
ANKLE1	126549	broad.mit.edu	37	chr19	17396326	17396326	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ccgtgccatcttctacgtggGcaaagggacgagggcccggc	7	6	15	13	4	2	0	0	0	2	0	2	2	2	1	3	4	2	1	3	4	2	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17396326G>A	ENST00000394458.3	+	7	1739	c.1463G>A	c.(1462-1464)gGc>gAc	p.G488D	ANKLE1_ENST00000404085.1_Missense_Mutation_p.G484D|ANKLE1_ENST00000594072.1_Missense_Mutation_p.G451D|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.G462D	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	488						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						TTCTACGTGGGCAAAGGGACG	0.607													A	17396326	G	A	17396326	3	1	784	1	0	0	0	0	1	0	0	0	632	1203	42	2	1489	2	ANKLE1	19	17396326	Missense_Mutation	SNP	G	TCGA-VV-A829-01A-21D-A36O-08	16176975	17396326	41732657	33	57959											
ANKLE1	126549	broad.mit.edu	37	chr19	17397249	17397249	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggagtggtggcaggctggcCacctgctcgtcgccggcgct	3	8	17	13	4	0	0	0	0	0	0	2	1	0	1	3	6	1	4	3	6	0	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:17397249C>T	ENST00000394458.3	+	9	2012	c.1736C>T	c.(1735-1737)cCa>cTa	p.P579L	ANKLE1_ENST00000404085.1_Missense_Mutation_p.P575L|ANKLE1_ENST00000594072.1_Missense_Mutation_p.P542L|ANKLE1_ENST00000433424.2_3'UTR|ANKLE1_ENST00000598347.1_Missense_Mutation_p.H507Y	NM_152363.4	NP_689576	Q8NAG6	ANKL1_HUMAN	ankyrin repeat and LEM domain containing 1	579						nuclear envelope				large_intestine(1)|lung(3)|prostate(1)|skin(1)|urinary_tract(1)	7						GCAGGCTGGCCACCTGCTCGT	0.637													T	17397249	C	T	17397249	3	4	784	1	0	0	0	0	1	0	0	0	632	594	21	2	1770	2	ANKLE1	19	17397249	Missense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	923	17397249	41731734	34	57960											
SPTBN4	57731	broad.mit.edu	37	chr19	41012265	41012265	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgggtggaggctctcaatgcCgctgccctgcgcttctccca	4	9	12	16	3	2	0	1	0	2	0	4	1	2	1	3	3	3	3	3	3	1	1			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr19:41012265C>T	ENST00000352632.3	+	13	1874	c.1788C>T	c.(1786-1788)gcC>gcT	p.A596A	SPTBN4_ENST00000344104.3_Silent_p.A596A|SPTBN4_ENST00000595535.1_Silent_p.A596A|SPTBN4_ENST00000338932.3_Silent_p.A596A|SPTBN4_ENST00000598249.1_Silent_p.A596A			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	596					actin filament capping|axon guidance|cytoskeletal anchoring at plasma membrane|vesicle-mediated transport	cytosol|nuclear matrix|PML body|spectrin	actin binding|ankyrin binding|structural constituent of cytoskeleton			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			CTCTCAATGCCGCTGCCCTGC	0.632													T	41012265	C	T	41012265	2	4	784	1	0	0	0	0	0	0	0	1	15217	639	23	1		1	SPTBN4	19	41012265	Silent	SNP	C	TCGA-VV-A829-01A-21D-A36O-08	23615016	41012265	18116718	35	57961											
NCOA3	8202	broad.mit.edu	37	chr20	46279833	46279833	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	atgcagcagcagcagcagcaGcaacagcagcagcagcagca	15	1	12	13	0	0	0	0	0	0	0	0	0	0	0	0	0	13	12	0	0	1	0			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr20:46279833G>A	ENST00000372004.3	+	20	3963	c.3747G>A	c.(3745-3747)caG>caA	p.Q1249Q	NCOA3_ENST00000341724.6_Silent_p.Q1179Q|NCOA3_ENST00000371998.3_Silent_p.Q1253Q|NCOA3_ENST00000371997.3_Silent_p.Q1244Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1253	Acetyltransferase.|Poly-Gln.		Missing.		androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding			breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcaacagcagc	0.547													A	46279833	G	A	46279833	2	1	784	1	0	0	0	0	0	0	0	1	10306	962	34	2		2	NCOA3	20	46279833	Silent	SNP	G	TCGA-VV-A829-01A-21D-A36O-08		46279833	16745687	36	57962											
KRTAP10-9	386676	broad.mit.edu	37	chr21	46047639	46047639	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgccagcagtcctactgtgTgcctgtctgctgtaagcctg	5	12	11	13	0	1	0	0	0	1	0	2	0	2	0	4	0	6	3	4	0	2	2			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chr21:46047639T>C	ENST00000397911.3	+	1	600	c.551T>C	c.(550-552)gTg>gCg	p.V184A	KRTAP10-9_ENST00000484861.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198690.2	NP_941963.2	P60411	KR109_HUMAN	keratin associated protein 10-9	184	25 X 5 AA repeats of C-C-X(3).					keratin filament				endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9						TCCTACTGTGTGCCTGTCTGC	0.597													C	46047639	T	C	46047639	3	2	784	1	0	0	0	0	1	0	0	0	8574	1696	59	3	553	3	KRTAP10-9	21	46047639	Missense_Mutation	SNP	T	TCGA-VV-A829-01A-21D-A36O-08		46047639	2082256	37	57963											
BCOR	54880	broad.mit.edu	37	chrX	39911568	39911568	+	Nonsense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ctctgcaatggtgacaatttCcacgtttggaaaattgcagc	11	12	9	9	1	1	1	0	1	1	0	2	2	2	2	1	2	3	3	1	2	4	3			TCGA-VV-A829-01A-21D-A36O-08	TCGA-VV-A829-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2412e01f-41e2-48c7-849c-ecc2851b08d4	32471810-2274-4b01-b96f-37db7286333f	g.chrX:39911568C>A	ENST00000342274.4	-	15	5322	c.4960G>T	c.(4960-4962)Gaa>Taa	p.E1654*	BCOR_ENST00000378444.4_Nonsense_Mutation_p.E1688*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1654*|BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1636*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E531*	NM_001123383.1	NP_001116855.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1688					heart development|histone H2A monoubiquitination|negative regulation of bone mineralization|negative regulation of histone H3-K36 methylation|negative regulation of histone H3-K4 methylation|negative regulation of tooth mineralization|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|palate development|specification of axis polarity|transcription, DNA-dependent	nucleus	heat shock protein binding|histone deacetylase binding|transcription corepressor activity|transcription factor binding|transcription regulatory region DNA binding			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						GTGACAATTTCCACGTTTGGA	0.438			"F, N, S, T"	RARA	"retinoblastoma, AML, APL(translocation)"		oculo-facio-cardio-dental genetic						A	39911568	C	A	39911568	4	1	784	1	0	0	0	0	0	1	0	0	1391	864	30	4	209	4	BCOR	23	39911568	Nonsense_Mutation	SNP	C	TCGA-VV-A829-01A-21D-A36O-08		39911568	115358992	38	57964											
WDR77	79084	broad.mit.edu	37	chr1	111985359	111985359	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgtactcttggtgtccacaAgggagactgtcccattctca	8	13	9	11	0	2	1	1	0	2	1	5	2	4	1	2	2	1	1	2	2	2	4			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:111985359A>G	ENST00000235090.5	-	8	922	c.716T>C	c.(715-717)cTt>cCt	p.L239P	WDR77_ENST00000411751.2_Missense_Mutation_p.L175P|WDR77_ENST00000497278.1_5'UTR	NM_024102.2	NP_077007.1	Q9BQA1	MEP50_HUMAN	WD repeat domain 77	239					ncRNA metabolic process|spliceosomal snRNP assembly	cytosol|nucleus	ligand-dependent nuclear receptor transcription coactivator activity|protein binding			NS(2)|endometrium(2)|kidney(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10		all_cancers(81;0.000902)|all_epithelial(167;0.00056)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0238)|Colorectal(144;0.0296)|all cancers(265;0.0488)|Epithelial(280;0.0732)|COAD - Colon adenocarcinoma(174;0.114)|LUSC - Lung squamous cell carcinoma(189;0.135)		GGTGTCCACAAGGGAGACTGT	0.483													G	111985359	A	G	111985359	3	3	785	1	0	0	0	0	1	0	0	0	17429	72	3	3	324	3	WDR77	1	111985359	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08		111985359	137265262	1	57965											
HRNR	388697	broad.mit.edu	37	chr1	152190973	152190973	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctaagccagaagagtgaccGgagccagactcatatgggcc	12	5	12	12	1	1	4	1	1	0	3	1	5	1	5	5	2	2	0	5	2	3	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr1:152190973G>A	ENST00000368801.2	-	3	3207	c.3132C>T	c.(3130-3132)tcC>tcT	p.S1044S	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1044					keratinization		calcium ion binding|protein binding	p.S1044S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCGGAGCCAGACT	0.582													A	152190973	G	A	152190973	2	1	785	1	0	0	0	0	0	0	0	1	7414	1103	39	1		1	HRNR	1	152190973	Silent	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08	40205614	152190973	97059648	2	57966											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	785	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		209113112	34086261	3	57967											
PLA1A	51365	broad.mit.edu	37	chr3	119336927	119336927	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacatcagcgccctggaGaattcctgtccactgatggc	8	10	9	14	1	2	2	1	1	1	1	4	3	4	2	3	2	2	0	3	2	2	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr3:119336927G>T	ENST00000273371.4	+	7	888	c.816G>T	c.(814-816)gaG>gaT	p.E272D	PLA1A_ENST00000488919.1_Missense_Mutation_p.E99D|PLA1A_ENST00000495992.1_Missense_Mutation_p.E256D|PLA1A_ENST00000494440.1_Missense_Mutation_p.E256D	NM_015900.3	NP_056984.1	Q53H76	PLA1A_HUMAN	phospholipase A1 member A	272					lipid catabolic process|phosphatidylserine metabolic process	extracellular region	phospholipase A1 activity			NS(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30						GCGCCCTGGAGAATTCCTGTC	0.488													T	119336927	G	T	119336927	3	4	785	1	0	0	0	0	1	0	0	0	12065	933	33	4	842	4	PLA1A	3	119336927	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		119336927	78685503	4	57968											
PLK2	10769	broad.mit.edu	37	chr5	57753314	57753314	+	Splice_Site	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tattctgctgcatttacttaCattacacagcccagggccca	10	12	6	13	0	1	0	0	0	1	0	1	0	1	0	2	1	6	2	2	1	4	6			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:57753314C>G	ENST00000274289.3	-	6	1110		c.e6+1		PLK2_ENST00000502671.1_Splice_Site	NM_001252226.1|NM_006622.3	NP_001239155.1|NP_006613.2	Q9NYY3	PLK2_HUMAN	polo-like kinase 2						positive regulation of I-kappaB kinase/NF-kappaB cascade		ATP binding|protein binding|protein serine/threonine kinase activity|signal transducer activity			endometrium(7)|large_intestine(7)|lung(5)|ovary(3)|prostate(2)|skin(2)	26		all_cancers(5;1.76e-12)|all_epithelial(5;2.09e-13)|all_lung(5;6.64e-05)|Lung NSC(5;0.000127)|Prostate(74;0.055)|Breast(144;0.0602)|Ovarian(174;0.182)		OV - Ovarian serous cystadenocarcinoma(10;7.03e-37)		CATTTACTTACATTACACAGC	0.383													G	57753314	C	G	57753314	5	3	785	1	0	0	0	0	0	0	1	0	12173	492	17	4	1283	4	PLK2	5	57753314	Splice_Site	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		57753314	123161946	5	57969											
FAM71B	153745	broad.mit.edu	37	chr5	156592666	156592666	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtggcctcaggagatagaCaagtttttcccaatagcaaa	13	10	10	8	0	1	2	1	0	0	2	2	3	2	2	2	3	1	2	2	3	5	4			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr5:156592666C>T	ENST00000302938.4	-	1	609	c.514G>A	c.(514-516)Gtc>Atc	p.V172I		NM_130899.2	NP_570969.2	Q8TC56	FA71B_HUMAN	family with sequence similarity 71, member B	172						nucleus		p.V172I(1)		NS(3)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(32)|ovary(4)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68	Renal(175;0.00212)	Medulloblastoma(196;0.0523)|all_neural(177;0.21)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			AGGAGATAGACAAGTTTTTCC	0.507													T	156592666	C	T	156592666	3	4	785	1	0	0	0	0	1	0	0	0	5658	478	17	2	1311	2	FAM71B	5	156592666	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	98839352	156592666	24322594	6	57970											
ZNF165	7718	broad.mit.edu	37	chr6	28056763	28056763	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaatcaccaatatggaaaaTctttcaagagcccaaaactt	19	9	4	9	0	3	1	2	0	1	1	3	2	3	2	2	1	2	0	2	1	9	3			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:28056763T>C	ENST00000377325.1	+	4	1529	c.973T>C	c.(973-975)Tct>Cct	p.S325P		NM_003447.3	NP_003438.1	P49910	ZN165_HUMAN	zinc finger protein 165	325					viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(14)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						ATATGGAAAATCTTTCAAGAG	0.363													C	28056763	T	C	28056763	3	2	785	1	0	0	0	0	1	0	0	0	17841	1435	50	3	983	3	ZNF165	6	28056763	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08		28056763	143058304	7	57971											
SLC39A7	7922	broad.mit.edu	37	chr6	33169244	33169244	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgagagcatctggcatggAcatacccacgatcacgacca	13	5	9	14	3	2	1	1	0	1	1	2	5	2	2	2	2	2	2	2	2	1	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:33169244A>G	ENST00000374677.3	+	1	595	c.222A>G	c.(220-222)ggA>ggG	p.G74G	SLC39A7_ENST00000374675.3_Silent_p.G74G	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	74	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						TCTGGCATGGACATACCCACG	0.547													G	33169244	A	G	33169244	2	3	785	1	0	0	0	0	0	0	0	1	14717	262	10	3		3	SLC39A7	6	33169244	Silent	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08	5112481	33169244	137945823	8	57972											
SEC63	11231	broad.mit.edu	37	chr6	108202455	108202455	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtaattcttgccactcCtagtaaacaaaaaaattaaa	17	13	4	7	0	1	0	0	0	1	0	2	0	2	0	2	0	2	3	2	0	9	7			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr6:108202455C>T	ENST00000369002.4	-	18	2013		c.e18-1			NM_007214.4	NP_009145.1	Q9UGP8	SEC63_HUMAN	SEC63 homolog (S. cerevisiae)						protein folding|protein targeting to membrane	endoplasmic reticulum membrane|integral to membrane	heat shock protein binding|receptor activity|unfolded protein binding			endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36		all_cancers(87;5.35e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00225)|Colorectal(196;0.0294)		BRCA - Breast invasive adenocarcinoma(108;0.0079)|Epithelial(106;0.0356)|all cancers(137;0.0525)|OV - Ovarian serous cystadenocarcinoma(136;0.054)		CTTGCCACTCCTAGTAAACaa	0.313													T	108202455	C	T	108202455	5	4	785	1	0	0	0	0	0	0	1	0	14098	695	24	2	465	2	SEC63	6	108202455	Splice_Site	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	75033211	108202455	62912612	9	57973											
DNAJA1	3301	broad.mit.edu	37	chr9	33029962	33029962	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaaaactggctctgcaaaaGaatgtgatttgtgacaaatg	16	10	10	5	0	1	4	0	2	1	2	1	4	1	4	0	1	2	2	0	1	6	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr9:33029962G>C	ENST00000330899.4	+	4	573	c.390G>C	c.(388-390)aaG>aaC	p.K130N	DNAJA1_ENST00000495015.1_Intron|DNAJA1_ENST00000544625.1_5'UTR	NM_001539.2	NP_001530.1	P31689	DNJA1_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 1	130					protein folding|response to heat|response to unfolded protein	membrane	ATP binding|heat shock protein binding|low-density lipoprotein particle receptor binding|metal ion binding|unfolded protein binding			large_intestine(2)|ovary(1)|skin(3)	6			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.102)		CTCTGCAAAAGAATGTGATTT	0.328													C	33029962	G	C	33029962	3	2	785	1	0	0	0	0	1	0	0	0	4650	933	33	4	400	4	DNAJA1	9	33029962	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		33029962	108183469	10	57974											
ADD3	120	broad.mit.edu	37	chr10	111892082	111892082	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	gatgctgagcaggaattactCtcagatgacgcttcatctgt	10	12	10	9	1	3	3	2	2	2	1	4	5	3	4	0	1	3	3	0	1	2	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:111892082C>G	ENST00000356080.4	+	14	2119	c.1752C>G	c.(1750-1752)ctC>ctG	p.L584L	ADD3_ENST00000360162.3_Intron|ADD3_ENST00000277900.8_Intron	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	584						cytoskeleton	actin binding|calmodulin binding|metal ion binding|structural constituent of cytoskeleton			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		AGGAATTACTCTCAGATGACG	0.378													G	111892082	C	G	111892082	2	3	785	1	0	0	0	0	0	0	0	1	306	900	32	4		4	ADD3	10	111892082	Silent	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08		111892082	23642665	11	57975											
PWWP2B	170394	broad.mit.edu	37	chr10	134218293	134218293	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttcagccccccgagaccAcccgccccgagccacccccg	6	2	10	23	4	1	1	1	0	0	1	1	3	1	1	10	1	2	1	10	1	0	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr10:134218293A>C	ENST00000305233.5	+	2	348	c.289A>C	c.(289-291)Acc>Ccc	p.T97P	PWWP2B_ENST00000368609.4_Missense_Mutation_p.T97P	NM_138499.3	NP_612508.3	Q6NUJ5	PWP2B_HUMAN	PWWP domain containing 2B	97	Pro-rich.									central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(5)|urinary_tract(1)	9		all_cancers(35;6.69e-12)|all_epithelial(44;1.55e-08)|Lung NSC(174;0.000845)|all_lung(145;0.00144)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.109)|Melanoma(40;0.123)|Glioma(114;0.203)|all_hematologic(284;0.224)		OV - Ovarian serous cystadenocarcinoma(35;7.49e-05)|Epithelial(32;0.00016)|all cancers(32;0.000186)		CCCCGAGACCACCCGCCCCGA	0.756													C	134218293	A	C	134218293	3	2	785	1	0	0	0	0	1	0	0	0	12934	159	6	5	295	5	PWWP2B	10	134218293	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08	22326211	134218293	1316454	12	57976											
NBEA	26960	broad.mit.edu	37	chr13	35685017	35685017	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	taccatctacaccaccatacGcagagtaggaacagtattac	15	8	6	12	1	1	1	0	0	1	1	1	2	1	2	3	1	5	3	3	1	7	6			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr13:35685017G>T	ENST00000540320.1	+	13	2438	c.1904G>T	c.(1903-1905)cGc>cTc	p.R635L	NBEA_ENST00000379939.2_Missense_Mutation_p.R635L|NBEA_ENST00000310336.4_Missense_Mutation_p.R635L|NBEA_ENST00000400445.3_Missense_Mutation_p.R635L			Q8NFP9	NBEA_HUMAN	neurobeachin	635						cytosol|endomembrane system|plasma membrane|trans-Golgi network	protein binding			NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ACCACCATACGCAGAGTAGGA	0.363													T	35685017	G	T	35685017	3	4	785	1	0	0	0	0	1	0	0	0	10263	1087	38	4	1954	4	NBEA	13	35685017	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		35685017	79484861	13	57977											
TP53	7157	broad.mit.edu	37	chr17	7578443	7578443	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	catgtgctgtgactgcttgtAgatggccatggcgcggacgc	6	10	15	10	3	0	2	0	1	0	1	0	3	0	3	1	3	2	3	1	3	1	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:7578443A>T	ENST00000420246.2	-	5	619	c.487T>A	c.(487-489)Tac>Aac	p.Y163N	TP53_ENST00000269305.4_Missense_Mutation_p.Y163N|TP53_ENST00000445888.2_Missense_Mutation_p.Y163N|TP53_ENST00000359597.4_Missense_Mutation_p.Y163N|TP53_ENST00000413465.2_Missense_Mutation_p.Y163N|TP53_ENST00000455263.2_Missense_Mutation_p.Y163N	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	163	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 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.Y163N(20)|p.Y163H(17)|p.0?(8)|p.Y163D(5)|p.I162_Y163>N(3)|p.Y163fs*7(2)|p.V157_C176del20(1)|p.Y163fs*1(1)|p.Y163_Q165delYKQ(1)|p.P151_V173del23(1)|p.S149fs*72(1)|p.I30_Y31>N(1)|p.I162_Y163delIY(1)|p.I69_Y70>N(1)|p.Y70N(1)|p.A161fs*7(1)|p.Y31N(1)|p.Y163fs*14(1)|p.A159_Q167delAMAIYKQSQ(1)|p.Y163fs*18(1)|p.Y70D(1)|p.Y31D(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)		GACTGCTTGTAGATGGCCATG	0.622		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)			T	7578443	A	T	7578443	3	4	785	1	0	0	0	0	1	0	0	0	16482	420	15	5	811	5	TP53	17	7578443	Missense_Mutation	SNP	A	TCGA-VV-A86M-01A-11D-A36O-08		7578443	73616767	14	57978											
MYO15A	51168	broad.mit.edu	37	chr17	18023771	18023771	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tgtcggccttcggcgcccacCggggcctgggcttcggccct	1	8	15	17	5	0	0	0	0	0	0	3	0	0	0	5	6	0	1	5	6	0	2			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:18023771C>T	ENST00000205890.5	+	2	1995	c.1657C>T	c.(1657-1659)Cgg>Tgg	p.R553W		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	553	Myosin head-like.				sensory perception of sound	cytoplasm|myosin complex|stereocilium	actin binding|ATP binding|calmodulin binding|motor activity			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					CGGCGCCCACCGGGGCCTGGG	0.711													T	18023771	C	T	18023771	3	4	785	1	0	0	0	0	1	0	0	0	10139	643	23	1	1659	1	MYO15A	17	18023771	Missense_Mutation	SNP	C	TCGA-VV-A86M-01A-11D-A36O-08	10445328	18023771	63171439	15	57979											
PHB	5245	broad.mit.edu	37	chr17	47486742	47486742	+	Frame_Shift_Del	DEL	T	T	-																															tggacggcagcacacgctcaTcatagtcctctccgatgctg																										TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr17:47486742delT	ENST00000300408.3	-	4	416	c.344delA	c.(343-345)gatfs	p.D115fs	PHB_ENST00000508009.1_5'UTR|PHB_ENST00000511832.1_Frame_Shift_Del_p.D115fs|RP11-81K2.1_ENST00000576461.1_Intron	NM_001281496.1|NM_001281715.1|NM_002634.2	NP_001268425.1|NP_001268644.1|NP_002625.1	P35232	PHB_HUMAN	prohibitin	115					cellular response to interleukin-6|DNA replication|glucocorticoid receptor signaling pathway|histone deacetylation|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of transcription by competitive promoter binding|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|progesterone receptor signaling pathway|regulation of apoptosis	integral to plasma membrane|mitochondrial inner membrane|nucleoplasm	histone deacetylase binding|transcription regulatory region DNA binding			endometrium(4)|large_intestine(2)|lung(4)	10	all_cancers(4;2.62e-14)|Breast(4;4.21e-29)|all_epithelial(4;6.9e-18)		Epithelial(5;8.1e-06)|all cancers(6;7.71e-05)			CACACGCTCATCATAGTCCTC	0.567													-	47486742	T	-	47486742	7	5	785	1	0	1	0	1	0	0	0	0	11891	1435	50	0	490	0	PHB	17	47486742	Frame_Shift_Del	DEL	T	TCGA-VV-A86M-01A-11D-A36O-08	29462971	47486742	33708468	16	57980											
SSTR3	6753	broad.mit.edu	37	chr22	37603076	37603076	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacggccaccaccatgcgcGtgaccctgcgttcggagcgc	6	5	12	18	6	0	1	0	1	0	0	1	2	0	2	5	2	3	1	5	2	0	1			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:37603076G>A	ENST00000328544.3	-	2	1300	c.767C>T	c.(766-768)aCg>aTg	p.T256M	SSTR3_ENST00000402501.1_Missense_Mutation_p.T256M	NM_001051.3	NP_001042.1	P32745	SSR3_HUMAN	somatostatin receptor 3	256					G-protein signaling, coupled to cyclic nucleotide second messenger|induction of apoptosis by hormones|negative regulation of cell proliferation	integral to plasma membrane|nonmotile primary cilium	somatostatin receptor activity			NS(1)|breast(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)	14						CACCATGCGCGTGACCCTGCG	0.677													A	37603076	G	A	37603076	3	1	785	1	0	0	0	0	1	0	0	0	15295	1145	40	1	493	1	SSTR3	22	37603076	Missense_Mutation	SNP	G	TCGA-VV-A86M-01A-11D-A36O-08		37603076	13701490	17	57981											
KDELR3	11015	broad.mit.edu	37	chr22	38877361	38877361	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggcactctacctggctaacTggatcaggcggtaccagact	9	8	12	12	1	2	1	1	0	1	1	2	2	2	2	2	5	3	3	2	5	3	3			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chr22:38877361T>C	ENST00000216014.4	+	4	668	c.496T>C	c.(496-498)Tgg>Cgg	p.W166R	KDELR3_ENST00000471268.1_3'UTR|KDELR3_ENST00000409006.3_Missense_Mutation_p.W166R	NM_006855.2	NP_006846.1	O43731	ERD23_HUMAN	KDEL (Lys-Asp-Glu-Leu) endoplasmic reticulum protein retention receptor 3	166					protein retention in ER lumen|protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|integral to membrane	ER retention sequence binding|receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|prostate(1)	13	Melanoma(58;0.0286)					CCTGGCTAACTGGATCAGGCG	0.478													C	38877361	T	C	38877361	3	2	785	1	0	0	0	0	1	0	0	0	8179	1580	55	3	510	3	KDELR3	22	38877361	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08	1274285	38877361	12427205	18	57982											
ATRX	546	broad.mit.edu	37	chrX	76940454	76940454	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cattgttcatccattccatcTgagtcacggctaatatcatc	10	14	5	12	1	4	1	3	1	1	0	7	1	6	1	2	1	0	2	2	1	2	5			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:76940454T>G	ENST00000373344.5	-	8	853	c.639A>C	c.(637-639)tcA>tcC	p.S213S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Silent_p.S175S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	213	ADD.				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)	CCATTCCATCTGAGTCACGGC	0.308			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76940454	T	G	76940454	2	3	785	1	0	0	0	0	0	0	0	1	1213	1567	55	5		5	ATRX	23	76940454	Silent	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08		76940454	78330106	19	57983											
MUM1L1	139221	broad.mit.edu	37	chrX	105450654	105450654	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tccattttggccagcagtgaTaaaaagtatcagacgaaaag	16	9	9	7	1	1	2	1	1	0	1	2	3	2	2	2	1	1	2	2	1	6	4			TCGA-VV-A86M-01A-11D-A36O-08	TCGA-VV-A86M-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5db1dc85-06ff-4cdd-acc9-d0b950b8f83e	d9c49142-2c48-4d18-adf2-08fe0fd0ebb4	g.chrX:105450654T>A	ENST00000337685.2	+	5	2014	c.1229T>A	c.(1228-1230)aTa>aAa	p.I410K	MUM1L1_ENST00000357175.2_Missense_Mutation_p.I410K|MUM1L1_ENST00000372552.1_Missense_Mutation_p.I410K	NM_152423.4	NP_689636.3	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	410	PWWP.									autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						CCAGCAGTGATAAAAAGTATC	0.348													A	105450654	T	A	105450654	3	1	785	1	0	0	0	0	1	0	0	0	10062	1406	49	5	1231	5	MUM1L1	23	105450654	Missense_Mutation	SNP	T	TCGA-VV-A86M-01A-11D-A36O-08	28510200	105450654	49819906	20	57984											
MTOR	2475	broad.mit.edu	37	chr1	11182158	11182158	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gaggcccgagttggtcgataAagggatgacagcgtatctct	10	9	14	8	3	1	1	0	1	1	0	3	5	1	2	1	3	1	2	1	3	3	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:11182158A>C	ENST00000361445.4	-	48	6764	c.6688T>G	c.(6688-6690)Tta>Gta	p.L2230V	MTOR_ENST00000376838.1_Missense_Mutation_p.L435V	NM_004958.3	NP_004949.1	P42345	MTOR_HUMAN	mechanistic target of rapamycin (serine/threonine kinase)	2230	PI3K/PI4K.				cell growth|cellular response to hypoxia|insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|phosphatidylinositol-mediated signaling|protein autophosphorylation|protein catabolic process|response to amino acid stimulus|response to nutrient|T cell costimulation|TOR signaling cascade	endoplasmic reticulum membrane|Golgi membrane|lysosome|mitochondrial outer membrane|phosphatidylinositol 3-kinase complex|PML body|TORC1 complex|TORC2 complex	ATP binding|phosphoprotein binding|protein serine/threonine kinase activity			breast(5)|central_nervous_system(7)|endometrium(20)|kidney(34)|large_intestine(21)|lung(43)|ovary(9)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	149						TTGGTCGATAAAGGGATGACA	0.532													C	11182158	A	C	11182158	3	2	786	1	0	0	0	0	1	0	0	0	10030	11	1	5	1005	5	MTOR	1	11182158	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08		11182158	238068463	1	57985											
SEC22B	9554	broad.mit.edu	37	chr1	145109975	145109976	+	RNA	INS	-	-	C																															cacatgtgacaggaactttgINSctaaagatctacttgattgg																								rs67257307		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:145109975_145109976insC	ENST00000453618.1	+	0	673							O75396	SC22B_HUMAN	SEC22 vesicle trafficking protein homolog B (S. cerevisiae) (gene/pseudogene)						ER to Golgi vesicle-mediated transport|protein transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane|melanosome	protein binding										CAGGAACTTTGCTAAAGATCTA	0.386													C	145109976	-	C	145109975	6	5	786	0	1	1	1	0	0	0	0	0	14082	1334	46	0		0	SEC22B	1	145109975	RNA	INS	-	TCGA-VW-A7QS-01A-12D-A33T-08	133927817	145109975	104140646	2	57986											
OR10X1	128367	broad.mit.edu	37	chr1	158549195	158549195	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagataaagaagcctgcagtGcaagcagaggccacaagttg	15	5	13	8	0	0	3	0	0	0	3	0	4	0	3	2	1	4	4	2	1	5	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:158549195G>A	ENST00000368150.1	-	1	494	c.495C>T	c.(493-495)tgC>tgT	p.C165C		NM_001004477.1	NP_001004477.1	Q8NGY0	O10X1_HUMAN	olfactory receptor, family 10, subfamily X, member 1 (gene/pseudogene)	165					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(22)|ovary(2)|skin(2)|urinary_tract(1)	37	all_hematologic(112;0.0378)					AGCCTGCAGTGCAAGCAGAGG	0.468													A	158549195	G	A	158549195	2	1	786	1	0	0	0	0	0	0	0	1	10998	1311	46	2		2	OR10X1	1	158549195	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	13439220	158549195	90701426	3	57987											
KCNT2	343450	broad.mit.edu	37	chr1	196309662	196309662	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gattcagcaaaatgtttttaTtatcctccctcctaacacca	12	14	3	12	0	1	0	1	0	0	0	4	1	4	0	4	0	2	2	4	0	5	6			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:196309662T>C	ENST00000367433.5	-	16	1693	c.1592A>G	c.(1591-1593)aAt>aGt	p.N531S	KCNT2_ENST00000451324.2_Missense_Mutation_p.N142S|KCNT2_ENST00000609185.1_Missense_Mutation_p.N481S|KCNT2_ENST00000294725.9_Missense_Mutation_p.N531S|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.N481S	NM_198503.2	NP_940905.2	Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	531	RCK N-terminal.					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						AATGTTTTTATTATCCTCCCT	0.303													C	196309662	T	C	196309662	3	2	786	1	0	0	0	0	1	0	0	0	8150	1493	52	3	1867	3	KCNT2	1	196309662	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	37760467	196309662	52940959	4	57988											
TLR5	7100	broad.mit.edu	37	chr1	223285750	223285750	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccactgagactctgctataCaagctattagctgcgaggct	10	11	9	11	1	1	1	0	1	1	1	2	3	2	1	1	1	5	4	1	1	5	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:223285750C>T	ENST00000540964.1	-	4	1085	c.624G>A	c.(622-624)ttG>ttA	p.L208L	TLR5_ENST00000342210.6_Silent_p.L208L			O60602	TLR5_HUMAN	toll-like receptor 5	208					cellular response to mechanical stimulus|inflammatory response|innate immune response|MyD88-dependent toll-like receptor signaling pathway|positive regulation of interleukin-8 production|positive regulation of toll-like receptor signaling pathway	integral to membrane|plasma membrane	interleukin-1 receptor binding|transmembrane receptor activity			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32				GBM - Glioblastoma multiforme(131;0.0851)		CTCTGCTATACAAGCTATTAG	0.443													T	223285750	C	T	223285750	2	4	786	1	0	0	0	0	0	0	0	1	16054	477	17	2		2	TLR5	1	223285750	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	26976088	223285750	25964871	5	57989											
B3GALNT2	148789	broad.mit.edu	37	chr1	235617570	235617570	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	aaggcagggtaagcggggctCgggtactccaactcctgcca	9	6	14	12	2	0	0	0	0	0	0	3	0	2	0	3	5	4	4	3	5	4	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr1:235617570C>T	ENST00000366600.3	-	10	1437	c.1209G>A	c.(1207-1209)ccG>ccA	p.P403P		NM_152490.2	NP_689703.1	Q8NCR0	B3GL2_HUMAN	beta-1,3-N-acetylgalactosaminyltransferase 2	403					protein glycosylation	Golgi membrane|integral to membrane	galactosyltransferase activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	18	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.0539)|Prostate(94;0.0353)	OV - Ovarian serous cystadenocarcinoma(106;0.000117)			AAGCGGGGCTCGGGTACTCCA	0.507													T	235617570	C	T	235617570	2	4	786	1	0	0	0	0	0	0	0	1	1251	871	31	1		1	B3GALNT2	1	235617570	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	12331820	235617570	13633051	6	57990											
FBXO11	80204	broad.mit.edu	37	chr2	48040489	48040489	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cagccattgcattgtcaaatAtttcattgtcttctatacag	11	16	5	9	0	4	0	2	0	2	0	4	0	4	0	1	0	3	1	1	0	4	8			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:48040489A>T	ENST00000403359.3	-	18	2183	c.2111T>A	c.(2110-2112)aTa>aAa	p.I704K	FBXO11_ENST00000434523.2_Missense_Mutation_p.I128K|FBXO11_ENST00000402508.1_Missense_Mutation_p.I620K|FBXO11_ENST00000316377.4_Missense_Mutation_p.I620K	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	704					ubiquitin-dependent protein catabolic process	cytoplasm|nucleolus|ubiquitin ligase complex	protein binding|protein-arginine N-methyltransferase activity|ubiquitin-protein ligase activity|zinc ion binding	p.0?(2)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			ATTGTCAAATATTTCATTGTC	0.294			"Mis, F, D"		DLBCL								T	48040489	A	T	48040489	3	4	786	1	0	0	0	0	1	0	0	0	5776	449	16	5	782	5	FBXO11	2	48040489	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08		48040489	195158884	7	57991											
SLC9A2	6549	broad.mit.edu	37	chr2	103317573	103317573	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgcggaagcttttgattcGggaaaaccaaccaaagtcaa	14	9	9	9	2	2	1	1	1	1	0	3	3	2	3	2	2	4	1	2	2	6	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:103317573G>A	ENST00000233969.2	+	8	1773	c.1631G>A	c.(1630-1632)cGg>cAg	p.R544Q	SLC9A2_ENST00000469286.1_3'UTR	NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	544						integral to membrane|plasma membrane	sodium:hydrogen antiporter activity			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						CTTTTGATTCGGGAAAACCAA	0.318													A	103317573	G	A	103317573	3	1	786	1	0	0	0	0	1	0	0	0	14806	1116	39	1	1661	1	SLC9A2	2	103317573	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	55277084	103317573	139881800	8	57992											
MYO7B	4648	broad.mit.edu	37	chr2	128350379	128350379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccgcccacagctgttcgaccGggagctgtgcctgcggcagc	5	6	14	16	4	0	0	0	0	0	0	1	2	0	1	4	2	5	4	4	2	0	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:128350379G>A	ENST00000389524.4	+	17	2056	c.2003G>A	c.(2002-2004)cGg>cAg	p.R668Q	MYO7B_ENST00000428314.1_Missense_Mutation_p.R668Q|MYO7B_ENST00000409816.2_Missense_Mutation_p.R668Q			Q6PIF6	MYO7B_HUMAN	myosin VIIB	668	Myosin head-like.					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CTGTTCGACCGGGAGCTGTGC	0.687													A	128350379	G	A	128350379	3	1	786	1	0	0	0	0	1	0	0	0	10159	1116	39	1	2065	1	MYO7B	2	128350379	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	25032806	128350379	114848994	9	57993											
NEB	4703	broad.mit.edu	37	chr2	152425801	152425801	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cctcactgaagatgtccgcgGcatgtttggcatgattgacg	8	11	12	10	3	1	4	1	3	0	1	2	4	2	4	2	2	0	3	2	2	1	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:152425801G>A	ENST00000427231.2	-	110	17718	c.17516C>T	c.(17515-17517)gCc>gTc	p.A5839V	NEB_ENST00000172853.10_Missense_Mutation_p.A4138V|NEB_ENST00000603639.1_Missense_Mutation_p.A5839V|NEB_ENST00000409198.1_Missense_Mutation_p.A4138V|NEB_ENST00000604864.1_Missense_Mutation_p.A5839V|NEB_ENST00000397345.3_Missense_Mutation_p.A5839V	NM_001164507.1|NM_001271208.1	NP_001157979|NP_001258137.1	P20929	NEBU_HUMAN	nebulin	5858					muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GATGTCCGCGGCATGTTTGGC	0.433													A	152425801	G	A	152425801	3	1	786	1	0	0	0	0	1	0	0	0	10378	1203	42	2	8462	2	NEB	2	152425801	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	24075422	152425801	90773572	10	57994											
GALNT3	2591	broad.mit.edu	37	chr2	166615936	166615936	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gactccagtcaaaatttccaCggttatggttacttccataa	12	13	6	10	1	1	0	1	0	0	0	4	1	4	0	3	2	1	2	3	2	5	5			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr2:166615936C>T	ENST00000392701.3	-	5	1758	c.983G>A	c.(982-984)cGt>cAt	p.R328H	GALNT3_ENST00000409882.1_Missense_Mutation_p.R66H	NM_004482.3	NP_004473.2	Q14435	GALT3_HUMAN	UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 3 (GalNAc-T3)	328					protein O-linked glycosylation via serine|protein O-linked glycosylation via threonine	Golgi cisterna membrane|integral to membrane|membrane fraction|nucleus|perinuclear region of cytoplasm	calcium ion binding|manganese ion binding|polypeptide N-acetylgalactosaminyltransferase activity|sugar binding			NS(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(1)|prostate(3)|skin(1)	20						AAAATTTCCACGGTTATGGTT	0.413													T	166615936	C	T	166615936	3	4	786	1	0	0	0	0	1	0	0	0	6268	536	19	1	946	1	GALNT3	2	166615936	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	14190135	166615936	76583437	11	57995											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	786	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	42497176	209113112	34086261	12	57996											
SCN11A	11280	broad.mit.edu	37	chr3	38888491	38888491	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gagccaccgagtaccctagcGgtgaaggcgaaaagaatatc	14	5	12	10	3	0	2	0	1	0	1	1	5	0	2	3	2	3	1	3	2	7	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:38888491G>A	ENST00000302328.3	-	26	5268	c.5070C>T	c.(5068-5070)acC>acT	p.T1690T	SCN11A_ENST00000456224.3_Silent_p.T1652T|SCN11A_ENST00000450244.1_Silent_p.T1690T	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit	1690					response to drug	voltage-gated sodium channel complex	voltage-gated sodium channel activity			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)	GTACCCTAGCGGTGAAGGCGA	0.453													A	38888491	G	A	38888491	2	1	786	1	0	0	0	0	0	0	0	1	14006	1103	39	1		1	SCN11A	3	38888491	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		38888491	159133939	13	57997											
PARP3	10039	broad.mit.edu	37	chr3	51979052	51979052	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgggaaagctgagcaagcaaCagattgcacggggtttcgag	12	7	15	7	2	0	2	0	1	0	1	1	4	0	3	0	3	5	5	0	3	3	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:51979052C>T	ENST00000417220.2	+	7	1161	c.673C>T	c.(673-675)Cag>Tag	p.Q225*	PARP3_ENST00000398755.3_Nonsense_Mutation_p.Q232*|PARP3_ENST00000431474.1_Nonsense_Mutation_p.Q225*			Q9Y6F1	PARP3_HUMAN	poly (ADP-ribose) polymerase family, member 3	225	PARP alpha-helical.				DNA repair|protein ADP-ribosylation	centriole|nucleus	NAD+ ADP-ribosyltransferase activity|protein binding			ovary(1)	1				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000541)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)		GAGCAAGCAACAGATTGCACG	0.627													T	51979052	C	T	51979052	4	4	786	1	0	0	0	0	0	1	0	0	11538	479	17	2	716	2	PARP3	3	51979052	Nonsense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	13090561	51979052	146043378	14	57998											
PDIA5	10954	broad.mit.edu	37	chr3	122849400	122849400	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gctccgtttatcacctgaccGatgaagactttgaccagttt	9	13	8	11	2	1	4	1	3	0	1	2	5	2	4	4	0	0	3	4	0	2	4	rs145568670		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:122849400G>A	ENST00000316218.7	+	11	942	c.847G>A	c.(847-849)Gat>Aat	p.D283N		NM_006810.3	NP_006801.1	Q14554	PDIA5_HUMAN	protein disulfide isomerase family A, member 5	283	Thioredoxin 2.				cell redox homeostasis|glycerol ether metabolic process|protein folding|response to stress	endoplasmic reticulum lumen	electron carrier activity|protein disulfide isomerase activity|protein disulfide oxidoreductase activity			breast(1)|endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	21				GBM - Glioblastoma multiforme(114;0.0427)		TCACCTGACCGATGAAGACTT	0.587													A	122849400	G	A	122849400	3	1	786	1	0	0	0	0	1	0	0	0	11747	1058	37	1	889	1	PDIA5	3	122849400	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	70870348	122849400	75173030	15	57999											
KALRN	8997	broad.mit.edu	37	chr3	124418865	124418865	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgagccctcggagtttgtgCgacttccagaatatggtgag	8	10	14	9	3	0	2	0	1	0	1	2	5	1	3	2	2	2	1	2	2	2	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr3:124418865C>T	ENST00000291478.5	+	23	3053	c.2890C>T	c.(2890-2892)Cga>Tga	p.R964*	KALRN_ENST00000428018.2_Nonsense_Mutation_p.R932*|KALRN_ENST00000360013.3_Nonsense_Mutation_p.R2661*	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase						apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GGAGTTTGTGCGACTTCCAGA	0.597													T	124418865	C	T	124418865	4	4	786	1	0	0	0	0	0	1	0	0	8033	760	27	1	8359	1	KALRN	3	124418865	Nonsense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	1569465	124418865	73603565	16	58000											
CLCN3	1182	broad.mit.edu	37	chr4	170610267	170610267	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagggcatttgccttagtgcGttgtggtacaaccacgaaca	10	10	12	9	2	0	0	0	0	0	0	0	2	0	0	2	2	5	3	2	2	4	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:170610267G>A	ENST00000513761.1	+	5	1051	c.492G>A	c.(490-492)gcG>gcA	p.A164A	CLCN3_ENST00000504131.2_Silent_p.A147A|CLCN3_ENST00000360642.3_Silent_p.A164A|CLCN3_ENST00000347613.4_Silent_p.A164A	NM_001829.3	NP_001820.2	P51790	CLCN3_HUMAN	chloride channel, voltage-sensitive 3	164					endosomal lumen acidification	cell surface|early endosome membrane|Golgi membrane|integral to membrane|late endosome membrane|transport vesicle membrane	antiporter activity|ATP binding|PDZ domain binding|protein heterodimerization activity|protein homodimerization activity|voltage-gated chloride channel activity			breast(5)|endometrium(3)|large_intestine(8)|lung(8)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	29		Prostate(90;0.00601)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0233)|LUSC - Lung squamous cell carcinoma(193;0.131)		GCCTTAGTGCGTTGTGGTACA	0.438													A	170610267	G	A	170610267	2	1	786	1	0	0	0	0	0	0	0	1	3495	1132	40	1		1	CLCN3	4	170610267	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		170610267	20544009	17	58001											
GLRA3	8001	broad.mit.edu	37	chr4	175603980	175603980	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtaatgtttagtgcagtatcGtaaatctttttcttctttca	9	20	6	6	1	4	0	1	0	3	0	5	0	4	0	0	0	1	5	0	0	5	9			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr4:175603980G>A	ENST00000274093.3	-	6	1187	c.685C>T	c.(685-687)Cga>Tga	p.R229*	GLRA3_ENST00000340217.5_Nonsense_Mutation_p.R229*	NM_006529.2	NP_006520.2	O75311	GLRA3_HUMAN	glycine receptor, alpha 3	229					synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	extracellular-glycine-gated chloride channel activity|glycine binding|receptor activity|transmitter-gated ion channel activity			endometrium(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(3)|prostate(1)|skin(3)|stomach(1)|urinary_tract(1)	35		Prostate(90;0.00601)|Breast(14;0.0091)|Melanoma(52;0.00959)|Renal(120;0.0183)|all_neural(102;0.0891)|all_hematologic(60;0.107)		all cancers(43;4.99e-18)|Epithelial(43;1.18e-16)|OV - Ovarian serous cystadenocarcinoma(60;5.88e-09)|STAD - Stomach adenocarcinoma(60;0.00442)|GBM - Glioblastoma multiforme(59;0.0102)|LUSC - Lung squamous cell carcinoma(193;0.0421)	Glycine(DB00145)	GTGCAGTATCGTAAATCTTTT	0.368													A	175603980	G	A	175603980	4	1	786	1	0	0	0	0	0	1	0	0	6512	1153	40	1	729	1	GLRA3	4	175603980	Nonsense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	4993713	175603980	15550296	18	58002											
MAST4	375449	broad.mit.edu	37	chr5	66459037	66459037	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccaattccccagcagggtccGggcacatccggcccagcact	8	5	10	18	2	0	0	0	0	0	0	3	0	3	0	6	3	2	3	6	3	1	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:66459037G>A	ENST00000404260.3	+	29	4347	c.4039G>A	c.(4039-4041)Ggg>Agg	p.G1347R	MAST4_ENST00000403625.2_Missense_Mutation_p.G1344R|MAST4_ENST00000405643.1_Missense_Mutation_p.G1165R|MAST4_ENST00000403666.1_Missense_Mutation_p.G1155R|MAST4_ENST00000261569.7_Missense_Mutation_p.G1150R			O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	1347						cytoplasm	ATP binding|magnesium ion binding|protein serine/threonine kinase activity			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		AGCAGGGTCCGGGCACATCCG	0.612													A	66459037	G	A	66459037	3	1	786	1	0	0	0	0	1	0	0	0	9402	1116	39	1	4274	1	MAST4	5	66459037	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		66459037	114456223	19	58003											
FNIP1	96459	broad.mit.edu	37	chr5	131046325	131046325	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cggaccctgctcagagaatgCccgcctggggctgcagaact	8	6	13	14	2	1	2	1	0	0	2	1	4	1	3	3	3	4	3	3	3	2	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:131046325C>T	ENST00000307954.8	-	6	545	c.517G>A	c.(517-519)Gca>Aca	p.A173T	FNIP1_ENST00000511848.1_Missense_Mutation_p.A218T|FNIP1_ENST00000510461.1_Missense_Mutation_p.A218T|FNIP1_ENST00000307968.7_Intron|CTC-432M15.3_ENST00000514667.1_Intron					folliculin interacting protein 1											NS(1)|breast(1)|endometrium(5)|kidney(3)|large_intestine(4)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34		all_cancers(142;0.00347)|Lung NSC(810;0.106)|all_lung(232;0.123)|Breast(839;0.198)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	Lung(113;0.0665)		TCAGAGAATGCCCGCCTGGGG	0.522													T	131046325	C	T	131046325	3	4	786	1	0	0	0	0	1	0	0	0	6024	739	26	2	2896	2	FNIP1	5	131046325	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	64587288	131046325	49868935	20	58004											
PCDHA3	56145	broad.mit.edu	37	chr5	140180922	140180922	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcatggcaccttcgtgggccGcatcgcgcaggacctggggc	5	6	16	14	4	0	0	0	0	0	0	2	1	0	1	3	5	0	4	3	5	0	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140180922G>A	ENST00000522353.2	+	1	140	c.140G>A	c.(139-141)cGc>cAc	p.R47H	PCDHA2_ENST00000520672.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.R47H	NM_018906.2	NP_061729.1												p.R47P(2)		NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTCGTGGGCCGCATCGCGCAG	0.657													A	140180922	G	A	140180922	3	1	786	1	0	0	0	0	1	0	0	0	11601	1087	38	1	142	1	PCDHA3	5	140180922	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	9134597	140180922	40734338	21	58005											
PCDHGA3	56112	broad.mit.edu	37	chr5	140723837	140723837	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cagcttttctctctgaatccGcaaagcggcagcttggtcac	8	11	9	13	2	3	1	1	1	2	0	5	1	4	1	1	2	3	4	1	2	2	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr5:140723837G>A	ENST00000253812.6	+	1	237	c.237G>A	c.(235-237)ccG>ccA	p.P79P	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1														breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTCTGAATCCGCAAAGCGGCA	0.587											OREG0016855	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	140723837	G	A	140723837	2	1	786	1	0	0	0	0	0	0	0	1	11631	1074	38	1		1	PCDHGA3	5	140723837	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	542915	140723837	40191423	22	58006											
CSNK2B	1460	broad.mit.edu	37	chr6	31636397	31636397	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ttatggattgatccacgcccGctacatccttaccaaccgtg	9	11	7	14	3	0	1	0	1	0	0	2	2	2	2	5	1	3	1	5	1	4	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:31636397G>A	ENST00000375880.2	+	4	375	c.257G>A	c.(256-258)cGc>cAc	p.R86H	CSNK2B_ENST00000375885.4_Missense_Mutation_p.R105H|CSNK2B_ENST00000375882.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375866.2_Missense_Mutation_p.R86H|CSNK2B_ENST00000375865.2_Missense_Mutation_p.R86H																							ATCCACGCCCGCTACATCCTT	0.552													A	31636397	G	A	31636397	3	1	786	1	0	0	0	0	1	0	0	0	3992	1087	38	1	267	1	CSNK2B	6	31636397	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		31636397	139478670	23	58007											
REV3L	5980	broad.mit.edu	37	chr6	111694039	111694039	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tatcattgtttcttgaaacaTacagttctaaatcttcacag	13	16	4	8	0	5	1	2	1	3	0	5	1	5	1	0	0	2	2	0	0	5	8			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr6:111694039T>C	ENST00000435970.1	-	15	6101	c.5285A>G	c.(5284-5286)tAt>tGt	p.Y1762C	REV3L_ENST00000358835.3_Missense_Mutation_p.Y1840C|REV3L_ENST00000368805.1_Missense_Mutation_p.Y1840C|REV3L_ENST00000368802.3_Missense_Mutation_p.Y1840C			O60673	DPOLZ_HUMAN	REV3-like, polymerase (DNA directed), zeta, catalytic subunit	1840					DNA-dependent DNA replication|translesion synthesis	nucleus|zeta DNA polymerase complex	DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding			NS(2)|breast(1)|endometrium(6)|kidney(7)|large_intestine(30)|lung(25)|ovary(3)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	88		all_cancers(87;7.57e-06)|Acute lymphoblastic leukemia(125;2.46e-08)|all_hematologic(75;1.08e-06)|all_epithelial(87;0.00138)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.0314)|Epithelial(106;0.057)|all cancers(137;0.0663)		TCTTGAAACATACAGTTCTAA	0.433								DNA polymerases (catalytic subunits)					C	111694039	T	C	111694039	3	2	786	1	0	0	0	0	1	0	0	0	13328	1406	49	3	3953	3	REV3L	6	111694039	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	80057642	111694039	59421028	24	58008											
AKAP9	10142	broad.mit.edu	37	chr7	91630393	91630396	+	Frame_Shift_Del	DEL	AGAC	AGAC	-																															ctaattctaagcaaaaagaaAgacagtcttctgaagaaata																								rs146864466		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:91630393_91630396delAGAC	ENST00000359028.2	+	9	1423_1426	c.1198_1201delAGAC	c.(1198-1203)agacagfs	p.RQ400fs	AKAP9_ENST00000356239.3_Frame_Shift_Del_p.RQ388fs|AKAP9_ENST00000358100.2_Frame_Shift_Del_p.RQ400fs			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	400	Glu-rich.				G2/M transition of mitotic cell cycle|signal transduction|synaptic transmission|transport	centrosome|cytosol|Golgi apparatus	receptor binding	p.R400K(1)|p.R388K(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			gcaaaaagaaagacagtcttctga	0.328			T	BRAF	papillary thyroid								-	91630396	AGAC	-	91630393	7	5	786	1	0	1	0	1	0	0	0	0	459	64	3	0	1192	0	AKAP9	7	91630393	Frame_Shift_Del	DEL	AGAC	TCGA-VW-A7QS-01A-12D-A33T-08		91630393	67508270	25	58009											
SLC26A4	5172	broad.mit.edu	37	chr7	107340552	107340552	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaacctcaaggagtgaagAttcttagattttccagtcct	13	12	8	8	0	2	4	1	1	1	3	4	5	4	5	3	1	1	0	3	1	5	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr7:107340552A>C	ENST00000265715.3	+	15	1863	c.1639A>C	c.(1639-1641)Att>Ctt	p.I547L	SLC26A4_ENST00000480841.1_3'UTR|SLC26A4_ENST00000541474.1_Missense_Mutation_p.I108L|SLC26A4_ENST00000544569.1_Missense_Mutation_p.I134L|SLC26A4_ENST00000543100.1_Missense_Mutation_p.I116L	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	547	STAS.				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						AGGAGTGAAGATTCTTAGATT	0.318									Pendred syndrome				C	107340552	A	C	107340552	3	2	786	1	0	0	0	0	1	0	0	0	14613	333	12	5	1693	5	SLC26A4	7	107340552	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08	15710159	107340552	51798111	26	58010											
KCNS2	3788	broad.mit.edu	37	chr8	99441273	99441273	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ccattgaaaaggaggagaacGagggcctggccaccatccct	12	5	12	12	1	0	2	0	1	0	1	1	5	1	3	5	4	1	0	5	4	3	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr8:99441273G>A	ENST00000287042.4	+	2	1416	c.1066G>A	c.(1066-1068)Gag>Aag	p.E356K	KCNS2_ENST00000521839.1_Missense_Mutation_p.E356K	NM_020697.2	NP_065748.1	Q9ULS6	KCNS2_HUMAN	potassium voltage-gated channel, delayed-rectifier, subfamily S, member 2	356						voltage-gated potassium channel complex	voltage-gated potassium channel activity			autonomic_ganglia(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	31	Breast(36;2.4e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.0448)			GGAGGAGAACGAGGGCCTGGC	0.577													A	99441273	G	A	99441273	3	1	786	1	0	0	0	0	1	0	0	0	8147	1059	37	1	1068	1	KCNS2	8	99441273	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		99441273	46922749	27	58011											
HNRNPK	3190	broad.mit.edu	37	chr9	86588288	86588289	+	Frame_Shift_Del	DEL	AA	AA	-																															aacagcctcaactcgcagtcAaagtcacttcctttatagtg																										TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:86588288_86588289delAA	ENST00000376263.3	-	9	651_652	c.428_429delTT	c.(427-429)tttfs	p.F143fs	HNRNPK_ENST00000376281.4_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000360384.5_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000351839.3_Frame_Shift_Del_p.F143fs|HNRNPK_ENST00000376264.2_Frame_Shift_Del_p.F143fs|RP11-575L7.8_ENST00000448389.1_RNA	NM_031263.2	NP_112553.1	P61978	HNRPK_HUMAN	heterogeneous nuclear ribonucleoprotein K	143	2 X 22 AA approximate repeats.|5 X 4 AA repeats of G-X-G-G.|Interaction with ASFV p30.|Necessary for interaction with DDX1.				interspecies interaction between organisms|positive regulation of low-density lipoprotein particle receptor biosynthetic process|positive regulation of receptor-mediated endocytosis|regulation of lipid transport by positive regulation of transcription from an RNA polymerase II promoter|regulation of low-density lipoprotein particle clearance|signal transduction	catalytic step 2 spliceosome|cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nuclear chromatin|nucleoplasm	protein binding|RNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|single-stranded DNA binding			endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|skin(1)|stomach(1)	19						ACTCGCAGTCAAAGTCACTTCC	0.366													-	86588289	AA	-	86588288	7	5	786	1	0	1	0	1	0	0	0	0	7324	127	5	0	1036	0	HNRNPK	9	86588288	Frame_Shift_Del	DEL	AA	TCGA-VW-A7QS-01A-12D-A33T-08		86588288	54625143	28	58012											
ZNF462	58499	broad.mit.edu	37	chr9	109691748	109691748	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attccgctgcatcaaatgctTcaagctgtcctttagcactg	9	13	7	12	1	2	0	2	0	0	0	4	0	4	0	2	0	4	5	2	0	3	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:109691748T>G	ENST00000277225.5	+	3	5844	c.5555T>G	c.(5554-5556)tTc>tGc	p.F1852C	ZNF462_ENST00000457913.1_Missense_Mutation_p.F1852C|ZNF462_ENST00000441147.2_Missense_Mutation_p.F697C			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1852					transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						ATCAAATGCTTCAAGCTGTCC	0.532													G	109691748	T	G	109691748	3	3	786	1	0	0	0	0	1	0	0	0	18027	1783	62	5	5561	5	ZNF462	9	109691748	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	23103460	109691748	31521683	29	58013											
NOTCH1	4851	broad.mit.edu	37	chr9	139412283	139412285	+	In_Frame_Del	DEL	GTT	GTT	-																															cacgggttcgagacgcactcGttgacgtcgatctcgcatcg																										TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412283_139412285delGTT	ENST00000277541.6	-	8	1435_1437	c.1360_1362delAAC	c.(1360-1362)aacdel	p.N454del		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	454	EGF-like 12; calcium-binding (Potential).				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	p.N454delN(2)		breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		AGACGCACTCGTTGACGTCGATC	0.66			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			-	139412285	GTT	-	139412283	7	5	786	1	0	1	0	1	0	0	0	0	10623	1136	40	0	6413	0	NOTCH1	9	139412283	In_Frame_Del	DEL	GTT	TCGA-VW-A7QS-01A-12D-A33T-08	29720535	139412283	1801148	30	58014											
NOTCH1	4851	broad.mit.edu	37	chr9	139412664	139412664	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaggtgcagatggccttgcCattgacagggttggtgtcgc	6	10	16	9	1	0	2	0	1	0	1	1	2	0	2	2	4	2	3	2	4	0	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr9:139412664C>A	ENST00000277541.6	-	7	1255	c.1180G>T	c.(1180-1182)Ggc>Tgc	p.G394C		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	394	EGF-like 10.				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		ATGGCCTTGCCATTGACAGGG	0.667			"T, Mis, O"	TRB@	T-ALL					HNSCC(8;0.001)			A	139412664	C	A	139412664	3	1	786	1	0	0	0	0	1	0	0	0	10623	594	21	4	6599	4	NOTCH1	9	139412664	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	381	139412664	1800767	31	58015											
ITIH5	80760	broad.mit.edu	37	chr10	7627946	7627946	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gatatcaagtggtccttccaTactttgatccggttggaaaa	11	13	9	8	1	1	1	1	1	0	0	4	3	4	2	3	3	1	1	3	3	5	5			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:7627946T>C	ENST00000256861.6	-	8	1104	c.1026A>G	c.(1024-1026)gtA>gtG	p.V342V	ITIH5_ENST00000434980.1_5'UTR|ITIH5_ENST00000397146.2_Silent_p.V342V|ITIH5_ENST00000446830.2_Silent_p.V124V|ITIH5_ENST00000298441.6_Silent_p.V128V|ITIH5_ENST00000397145.2_Silent_p.V342V	NM_030569.6	NP_085046.5	Q86UX2	ITIH5_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 5	342	VWFA.				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity			NS(1)|breast(3)|central_nervous_system(3)|endometrium(5)|kidney(6)|large_intestine(21)|lung(25)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|urinary_tract(3)	75						GGTCCTTCCATACTTTGATCC	0.473													C	7627946	T	C	7627946	2	2	786	1	0	0	0	0	0	0	0	1	7965	1393	49	3		3	ITIH5	10	7627946	Silent	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08		7627946	127906801	32	58016											
HELLS	3070	broad.mit.edu	37	chr10	96334429	96334429	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aggagtaccaggaccttttcTtgtctgtggccctttgtcta	6	15	10	10	0	3	0	0	0	3	0	3	2	3	2	3	3	1	1	3	3	2	6			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr10:96334429T>C	ENST00000348459.5	+	9	929	c.824T>C	c.(823-825)cTt>cCt	p.L275P	HELLS_ENST00000394044.1_Missense_Mutation_p.L275P|HELLS_ENST00000371332.4_Missense_Mutation_p.L275P|HELLS_ENST00000239026.6_3'UTR|HELLS_ENST00000394045.1_Missense_Mutation_p.L275P|HELLS_ENST00000394036.1_3'UTR	NM_018063.3	NP_060533.2	Q9NRZ9	HELLS_HUMAN	helicase, lymphoid-specific	275	Helicase ATP-binding.				cell division|centromeric heterochromatin formation|lymphocyte proliferation|maintenance of DNA methylation|methylation-dependent chromatin silencing|mitosis|transcription, DNA-dependent	centromeric heterochromatin|nucleus	ATP binding|DNA binding|helicase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(7)|lung(4)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		Colorectal(252;0.0429)		all cancers(201;2.13e-05)		GGACCTTTTCTTGTCTGTGGC	0.373													C	96334429	T	C	96334429	3	2	786	1	0	0	0	0	1	0	0	0	7101	1609	56	3	858	3	HELLS	10	96334429	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	88706483	96334429	39200318	33	58017											
OR51G2	81282	broad.mit.edu	37	chr11	4936857	4936857	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cagcaggaaggtagcagaaaCgctgctgctgctgtttccca	10	8	12	11	1	0	1	0	0	0	1	1	2	1	2	1	2	6	8	1	2	3	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:4936857C>T	ENST00000322013.3	-	1	65	c.37G>A	c.(37-39)Gtt>Att	p.V13I	MMP26_ENST00000380390.1_Intron|MMP26_ENST00000477339.1_Intron	NM_001005238.1	NP_001005238.1	Q8NGK0	O51G2_HUMAN	olfactory receptor, family 51, subfamily G, member 2	13					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|endometrium(1)|large_intestine(9)|lung(12)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;5.06e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00438)|LUSC - Lung squamous cell carcinoma(625;0.19)		GTAGCAGAAACGCTGCTGCTG	0.557													T	4936857	C	T	4936857	3	4	786	1	0	0	0	0	1	0	0	0	11175	536	19	1	911	1	OR51G2	11	4936857	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		4936857	130069659	34	58018											
DCHS1	8642	broad.mit.edu	37	chr11	6644395	6644395	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcacccccatcctcatctgTggcctgcacgtgacccaagc	7	7	9	18	1	2	1	1	1	1	0	3	1	3	1	5	2	2	2	5	2	1	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:6644395T>C	ENST00000299441.3	-	21	8923	c.8512A>G	c.(8512-8514)Aca>Gca	p.T2838A		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	2838	Cadherin 27.				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TCCTCATCTGTGGCCTGCACG	0.572													C	6644395	T	C	6644395	3	2	786	1	0	0	0	0	1	0	0	0	4321	1696	59	3	1388	3	DCHS1	11	6644395	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	1707538	6644395	128362121	35	58019											
HTR3A	3359	broad.mit.edu	37	chr11	113857553	113857553	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctgggctgcacaggtgtctActttgtggtgtgcatggctc	4	13	14	10	0	1	0	0	0	1	0	2	0	1	0	1	4	3	4	1	4	1	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr11:113857553A>C	ENST00000504030.2	+	8	1368	c.923A>C	c.(922-924)tAc>tCc	p.Y308S	HTR3A_ENST00000299961.5_Missense_Mutation_p.Y293S|HTR3A_ENST00000506841.2_Missense_Mutation_p.Y340S|HTR3A_ENST00000375498.2_Missense_Mutation_p.Y314S|HTR3A_ENST00000355556.2_Missense_Mutation_p.Y346S|HTR3A_ENST00000535865.1_Missense_Mutation_p.Y52S			P46098	5HT3A_HUMAN	5-hydroxytryptamine (serotonin) receptor 3A, ionotropic	308					digestion|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	serotonin binding|serotonin receptor activity|serotonin-activated cation-selective channel activity			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(14)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	36		all_cancers(61;2.31e-17)|all_epithelial(67;2.1e-10)|all_hematologic(158;4.64e-05)|Melanoma(852;0.000312)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0101)|all_neural(223;0.0281)|Prostate(24;0.0294)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;2.71e-06)|Epithelial(105;2.58e-05)|all cancers(92;0.000238)|OV - Ovarian serous cystadenocarcinoma(223;0.191)	Alosetron(DB00969)|Chloroprocaine(DB01161)|Cisapride(DB00604)|Dolasetron(DB00757)|Granisetron(DB00889)|Mirtazapine(DB00370)|Ondansetron(DB00904)|Palonosetron(DB00377)|Procaine(DB00721)|Tubocurarine(DB01199)	ACAGGTGTCTACTTTGTGGTG	0.602													C	113857553	A	C	113857553	3	2	786	1	0	0	0	0	1	0	0	0	7502	391	14	5	1089	5	HTR3A	11	113857553	Missense_Mutation	SNP	A	TCGA-VW-A7QS-01A-12D-A33T-08	107213158	113857553	21148963	36	58020											
WNK1	65125	broad.mit.edu	37	chr12	936450	936450	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tatgtttcaggtgtaccttgGagcctgactggctttctcac	6	15	10	10	0	2	1	2	1	1	0	3	2	2	2	2	3	2	3	2	3	2	5			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr12:936450G>T	ENST00000447667.2	+	3	1685	c.1175G>T	c.(1174-1176)gGa>gTa	p.G392V	WNK1_ENST00000535572.1_Intron|WNK1_ENST00000315939.6_Intron|WNK1_ENST00000537687.1_Intron|WNK1_ENST00000530271.2_Intron			Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	0	Protein kinase.				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			GTGTACCTTGGAGCCTGACTG	0.453													T	936450	G	T	936450	3	4	786	1	0	0	0	0	1	0	0	0	17479	1189	41	4		4	WNK1	12	936450	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		936450	132915445	37	58021											
LHX5	64211	broad.mit.edu	37	chr12	113906197	113906197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccggggacaaactgcggtccGtacaggatgacactgcgggc	9	5	15	12	4	0	1	0	1	0	0	1	3	1	3	2	5	4	1	2	5	2	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr12:113906197G>A	ENST00000261731.3	-	3	983	c.410C>T	c.(409-411)aCg>aTg	p.T137M		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	137						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						ACTGCGGTCCGTACAGGATGA	0.662													A	113906197	G	A	113906197	3	1	786	1	0	0	0	0	1	0	0	0	8834	1145	40	1	810	1	LHX5	12	113906197	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	112969747	113906197	19945698	38	58022											
SACS	26278	broad.mit.edu	37	chr13	23909715	23909715	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgtctccatctgtgattttgCcctttactgaatacagcaca	9	15	6	11	0	2	2	0	2	2	0	3	2	2	2	2	0	4	1	2	0	3	5			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:23909715C>T	ENST00000382298.3	-	10	8888	c.8300G>A	c.(8299-8301)gGc>gAc	p.G2767D	SACS_ENST00000382292.3_Missense_Mutation_p.G2767D|SACS_ENST00000402364.1_Missense_Mutation_p.G2017D	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN	spastic ataxia of Charlevoix-Saguenay (sacsin)	2767					cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGTGATTTTGCCCTTTACTGA	0.348													T	23909715	C	T	23909715	3	4	786	1	0	0	0	0	1	0	0	0	13895	739	26	2	5443	2	SACS	13	23909715	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		23909715	91260163	39	58023											
MYCBP2	23077	broad.mit.edu	37	chr13	77667377	77667377	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggagttactgatatataCggggcaggtacagatgttga	12	11	13	5	1	1	3	1	2	0	1	1	4	1	4	0	4	3	4	0	4	5	6			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr13:77667377C>T	ENST00000407578.2	-	59	10556	c.10290G>A	c.(10288-10290)ccG>ccA	p.P3430P	MYCBP2_ENST00000357337.6_Silent_p.P3392P|MYCBP2_ENST00000544440.2_Silent_p.P3392P|MYCBP2-AS1_ENST00000593933.1_RNA	NM_015057.4	NP_055872.4	O75592	MYCB2_HUMAN	MYC binding protein 2, E3 ubiquitin protein ligase	3392					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	ligase activity|protein binding|zinc ion binding			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(51)|ovary(5)|pancreas(2)|prostate(5)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	118		Breast(118;0.212)|Acute lymphoblastic leukemia(28;0.22)		GBM - Glioblastoma multiforme(99;0.109)		CTGATATATACGGGGCAGGTA	0.393													T	77667377	C	T	77667377	2	4	786	1	0	0	0	0	0	0	0	1	10094	523	19	1		1	MYCBP2	13	77667377	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	53757662	77667377	37502501	40	58024											
RNASE13	440163	broad.mit.edu	37	chr14	21502144	21502144	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggagggaatcctgggtgaGtgtgcagtattcattgtaat	9	12	16	4	0	1	1	1	1	0	0	2	3	2	3	1	4	1	3	1	4	3	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:21502144G>C	ENST00000382951.3	-	2	441	c.304C>G	c.(304-306)Ctc>Gtc	p.L102V	NDRG2_ENST00000403829.3_Intron	NM_001012264.3	NP_001012264.1	Q5GAN3	RNS13_HUMAN	ribonuclease, RNase A family, 13 (non-active)	102						extracellular region	nucleic acid binding|pancreatic ribonuclease activity			cervix(1)|endometrium(1)|lung(5)|ovary(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	12	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;6.85e-11)|Epithelial(56;9.49e-09)|all cancers(55;3.84e-08)	GBM - Glioblastoma multiforme(265;0.019)		TCCTGGGTGAGTGTGCAGTAT	0.498													C	21502144	G	C	21502144	3	2	786	1	0	0	0	0	1	0	0	0	13494	1029	36	4	170	4	RNASE13	14	21502144	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		21502144	85847396	41	58025											
MYH7	4625	broad.mit.edu	37	chr14	23889440	23889440	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctccagctcctcgatgcGtgcctggtcagacacaaagg	8	8	10	15	2	1	1	1	0	0	1	5	2	4	1	4	2	3	1	4	2	1	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr14:23889440G>A	ENST00000355349.3	-	27	3502	c.3340C>T	c.(3340-3342)Cgc>Tgc	p.R1114C		NM_000257.2	NP_000248.2	P12883	MYH7_HUMAN	myosin, heavy chain 7, cardiac muscle, beta	1114					adult heart development|muscle filament sliding|regulation of heart rate|ventricular cardiac muscle tissue morphogenesis	focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(3)|breast(4)|central_nervous_system(2)|cervix(2)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(19)|lung(57)|ovary(5)|prostate(9)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(5)	137	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00725)		tcctcGATGCGTGCCTGGTCA	0.637													A	23889440	G	A	23889440	3	1	786	1	0	0	0	0	1	0	0	0	10115	1145	40	1	2523	1	MYH7	14	23889440	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	2387296	23889440	83460100	42	58026											
UNKL	64718	broad.mit.edu	37	chr16	1451675	1451675	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ccgccgcccagctggccgttCtgcaaggcttcctgggcctg	3	8	13	17	3	1	0	0	0	1	0	2	0	2	0	6	3	2	4	6	3	1	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:1451675C>T	ENST00000389221.4	-	4	491	c.492G>A	c.(490-492)caG>caA	p.Q164Q	UNKL_ENST00000301712.5_Silent_p.Q164Q|UNKL_ENST00000503648.1_5'UTR|UNKL_ENST00000508903.2_Silent_p.Q164Q|UNKL_ENST00000397462.1_Silent_p.Q251Q	NM_001193388.1	NP_001180317	Q9H9P5	UNKL_HUMAN	unkempt family zinc finger-like	164						cytoplasm|nucleus	ligase activity|nucleic acid binding|zinc ion binding			autonomic_ganglia(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Hepatocellular(780;0.0893)				GCTGGCCGTTCTGCAAGGCTT	0.647													T	1451675	C	T	1451675	2	4	786	1	0	0	0	0	0	0	0	1	17103	912	32	2		2	UNKL	16	1451675	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		1451675	88903078	43	58027											
CX3CL1	6376	broad.mit.edu	37	chr16	57416150	57416150	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tggagcccgaagccacaggcGaaagcagtagcctggagccg	11	3	15	12	3	0	0	0	0	0	0	0	4	0	2	4	3	5	2	4	3	3	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr16:57416150G>A	ENST00000565912.1	+	2	2992	c.286G>A	c.(286-288)Gaa>Aaa	p.E96K	CX3CL1_ENST00000006053.6_Missense_Mutation_p.E134K|CX3CL1_ENST00000563383.1_Missense_Mutation_p.E140K|CX3CL1_ENST00000564948.1_3'UTR			P78423	X3CL1_HUMAN	chemokine (C-X3-C motif) ligand 1	134	Chemokine.				cell adhesion|cytokine-mediated signaling pathway|defense response|immune response|leukocyte adhesive activation|positive regulation of calcium-independent cell-cell adhesion|positive regulation of inflammatory response	cell surface|extracellular space|integral to membrane|plasma membrane	chemokine activity			breast(1)|endometrium(1)|large_intestine(1)|lung(2)	5						AGCCACAGGCGAAAGCAGTAG	0.667													A	57416150	G	A	57416150	3	1	786	1	0	0	0	0	1	0	0	0	4107	1059	37	1	410	1	CX3CL1	16	57416150	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	55964475	57416150	32938603	44	58028											
KRTAP4-11	653240	broad.mit.edu	37	chr17	39274170	39274170	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tgcagctggggtggcagcagGtgggctggcagcacacagac	8	5	18	10	0	0	1	0	0	0	1	0	1	0	1	0	6	4	7	0	6	0	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:39274170G>T	ENST00000391413.2	-	1	436	c.398C>A	c.(397-399)aCc>aAc	p.T133N		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	133	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].					keratin filament				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			gtggcagcaggtgggctggca	0.672													T	39274170	G	T	39274170	3	4	786	1	0	0	0	0	1	0	0	0	8608	1261	44	4	193	4	KRTAP4-11	17	39274170	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		39274170	41921040	45	58029											
PRKCA	5578	broad.mit.edu	37	chr17	64684479	64684479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agaaatctgggactgggatcGaacaacaaggaatgacttca	16	7	11	7	1	2	2	1	1	1	1	3	6	2	5	0	3	2	0	0	3	5	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr17:64684479G>A	ENST00000413366.3	+	7	772	c.746G>A	c.(745-747)cGa>cAa	p.R249Q		NM_002737.2	NP_002728	P17252	KPCA_HUMAN	protein kinase C, alpha	249	C2.				activation of phospholipase C activity|energy reserve metabolic process|induction of apoptosis by extracellular signals|intracellular signal transduction|mRNA metabolic process|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of blood vessel endothelial cell migration|regulation of insulin secretion|response to interleukin-1|synaptic transmission	cytosol|endoplasmic reticulum|membrane fraction|nucleoplasm|plasma membrane	ATP binding|enzyme binding|histone kinase activity (H3-T6 specific)|protein kinase C activity|zinc ion binding			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(17)|ovary(1)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	38			BRCA - Breast invasive adenocarcinoma(6;4.68e-09)		Phosphatidylserine(DB00144)|Vitamin E(DB00163)	GACTGGGATCGAACAACAAGG	0.463													A	64684479	G	A	64684479	3	1	786	1	0	0	0	0	1	0	0	0	12593	1058	37	1	772	1	PRKCA	17	64684479	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	25410309	64684479	16510731	46	58030											
MYO5B	4645	broad.mit.edu	37	chr18	47369674	47369674	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagtgcaccttgagatcgtcGttggtgtagtccgcgtgccg	5	11	15	10	5	0	1	0	1	0	1	3	3	1	1	3	1	2	3	3	1	1	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr18:47369674G>A	ENST00000285039.7	-	34	4847	c.4548C>T	c.(4546-4548)aaC>aaT	p.N1516N	SCARNA17_ENST00000589499.1_RNA|MYO5B_ENST00000324581.6_Silent_p.N631N|MYO5B_ENST00000592688.1_Silent_p.N86N	NM_001080467.2	NP_001073936.1	Q9ULV0	MYO5B_HUMAN	myosin VB	1516					protein transport	myosin complex	actin binding|ATP binding|calmodulin binding|motor activity			NS(1)|breast(6)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(6)|lung(29)|ovary(3)|pancreas(1)|prostate(1)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(4)	87				READ - Rectum adenocarcinoma(32;0.103)		TGAGATCGTCGTTGGTGTAGT	0.567													A	47369674	G	A	47369674	2	1	786	1	0	0	0	0	0	0	0	1	10155	1136	40	1		1	MYO5B	18	47369674	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		47369674	30707574	47	58031											
ARHGEF18	23370	broad.mit.edu	37	chr19	7528785	7528785	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cggaggcagctccacaggccCgcccaggagggctgagacct	8	3	15	15	2	0	1	0	1	0	1	1	4	1	3	4	5	1	3	4	5	0	0	rs149572002		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:7528785C>T	ENST00000359920.6	+	12	2406	c.2153C>T	c.(2152-2154)cCg>cTg	p.P718L	CTD-2207O23.3_ENST00000593531.1_Missense_Mutation_p.R676C|ARHGEF18_ENST00000319670.9_Missense_Mutation_p.P560L	NM_001130955.1	NP_001124427.1	Q6ZSZ5	ARHGI_HUMAN	Rho/Rac guanine nucleotide exchange factor (GEF) 18	718					actin cytoskeleton organization|apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of cell shape|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(2)|prostate(2)|stomach(1)|urinary_tract(1)	23		Renal(5;0.0902)				TCCACAGGCCCGCCCAGGAGG	0.682													T	7528785	C	T	7528785	3	4	786	1	0	0	0	0	1	0	0	0	904	652	23	1	2199	1	ARHGEF18	19	7528785	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08		7528785	51600198	48	58032											
ZNF558	148156	broad.mit.edu	37	chr19	8923829	8923829	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	aggtgcttggtagaattcctCtttcctctgtcaccaccttc	6	15	7	13	0	3	1	1	0	2	1	6	1	5	1	4	2	1	2	4	2	2	5			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:8923829C>G	ENST00000601372.1	-	8	1028	c.317G>C	c.(316-318)aGa>aCa	p.R106T	ZNF558_ENST00000301475.1_Missense_Mutation_p.R106T|ZNF558_ENST00000444186.2_Missense_Mutation_p.R35T			Q96NG5	ZN558_HUMAN	zinc finger protein 558	106	KRAB.				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding			central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(7)|prostate(1)|skin(1)	15						TAGAATTCCTCTTTCCTCTGT	0.463													G	8923829	C	G	8923829	3	3	786	1	0	0	0	0	1	0	0	0	18090	913	32	4	903	4	ZNF558	19	8923829	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	1395044	8923829	50205154	49	58033											
ZSWIM4	65249	broad.mit.edu	37	chr19	13941471	13941471	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	ctcagccactccctgggccgGcacgagctctctgccatcgt	5	8	10	18	3	2	0	1	0	1	0	5	1	3	0	4	2	3	2	4	2	0	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:13941471G>A	ENST00000254323.2	+	13	2766	c.2577G>A	c.(2575-2577)cgG>cgA	p.R859R	ZSWIM4_ENST00000440752.2_Silent_p.R693R	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	859							zinc ion binding			central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			CCCTGGGCCGGCACGAGCTCT	0.657													A	13941471	G	A	13941471	2	1	786	1	0	0	0	0	0	0	0	1	18340	1190	42	2		2	ZSWIM4	19	13941471	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	5017642	13941471	45187512	50	58034											
F2RL3	9002	broad.mit.edu	37	chr19	17000696	17000696	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctaccacctgcgtggccagcGctggcccttcggggaggccg	4	6	15	16	4	0	0	0	0	0	0	1	1	0	1	5	5	3	1	5	5	1	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17000696G>A	ENST00000248076.3	+	2	752	c.422G>A	c.(421-423)cGc>cAc	p.R141H	F2RL3_ENST00000599210.1_3'UTR	NM_003950.2	NP_003941.2	Q96RI0	PAR4_HUMAN	coagulation factor II (thrombin) receptor-like 3	141					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|platelet activation|positive regulation of release of sequestered calcium ion into cytosol	extracellular region|integral to plasma membrane	thrombin receptor activity			cervix(1)|lung(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						CGTGGCCAGCGCTGGCCCTTC	0.711													A	17000696	G	A	17000696	3	1	786	1	0	0	0	0	1	0	0	0	5388	1087	38	1	428	1	F2RL3	19	17000696	Missense_Mutation	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	3059225	17000696	42128287	51	58035											
ANO8	57719	broad.mit.edu	37	chr19	17439421	17439422	+	In_Frame_Ins	INS	-	-	TCC																															cgtcctcctcttcctcctcgINStcctcctcctcctcgtcgtc																										TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr19:17439421_17439422insTCC	ENST00000159087.4	-	13	1933_1934	c.1775_1776insGGA	c.(1774-1776)gac>gaGGAc	p.591_592insE		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	591	Glu-rich.					chloride channel complex	chloride channel activity			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						cttcctcctcgtcctcctcctc	0.743													TCC	17439422	-	TCC	17439421	7	5	786	1	0	1	1	0	0	0	0	0	703	1136	40	0	1946	0	ANO8	19	17439421	In_Frame_Ins	INS	-	TCGA-VW-A7QS-01A-12D-A33T-08	438725	17439421	41689562	52	58036											
NINL	22981	broad.mit.edu	37	chr20	25507065	25507065	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggcgaaatggtcgtttccGagaagcgtctgcaggaggac	9	8	15	9	4	1	1	0	0	1	1	3	5	2	3	1	4	2	2	1	4	2	1	rs142387243		TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:25507065G>T	ENST00000278886.6	-	2	232	c.159C>A	c.(157-159)ctC>ctA	p.L53L	NINL_ENST00000422516.1_Silent_p.L53L	NM_025176.4	NP_079452.3	Q9Y2I6	NINL_HUMAN	ninein-like	53	EF-hand 2.				G2/M transition of mitotic cell cycle	cytosol|microtubule|microtubule organizing center	calcium ion binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(13)|lung(25)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	57						GGTCGTTTCCGAGAAGCGTCT	0.542													T	25507065	G	T	25507065	2	4	786	1	0	0	0	0	0	0	0	1	10496	1045	37	4		4	NINL	20	25507065	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		25507065	37518455	53	58037											
ZHX3	23051	broad.mit.edu	37	chr20	39832611	39832611	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggagttcttcaggaagctgtTagagtccatggctgcattgt	8	13	13	7	0	2	1	1	0	1	1	3	3	3	3	1	3	2	5	1	3	2	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr20:39832611T>C	ENST00000309060.3	-	4	1361	c.946A>G	c.(946-948)Aac>Gac	p.N316D	ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000432768.2_Missense_Mutation_p.N316D|ZHX3_ENST00000540170.1_Missense_Mutation_p.N316D|ZHX3_ENST00000559234.1_Missense_Mutation_p.N316D|ZHX3_ENST00000544979.2_Missense_Mutation_p.N316D|ZHX3_ENST00000560361.1_Missense_Mutation_p.N316D			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	316	Required for homodimerization and interaction with NFYA.|Required for repressor activity.				negative regulation of transcription, DNA-dependent	cytoplasm|nucleolus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				AGGAAGCTGTTAGAGTCCATG	0.537													C	39832611	T	C	39832611	3	2	786	1	0	0	0	0	1	0	0	0	17778	1754	61	3	1932	3	ZHX3	20	39832611	Missense_Mutation	SNP	T	TCGA-VW-A7QS-01A-12D-A33T-08	14325546	39832611	23192909	54	58038											
USP25	29761	broad.mit.edu	37	chr21	17203875	17203876	+	Frame_Shift_Del	DEL	TT	TT	-																															gaagagctagtgagggactcTtttggtggttatagaaatgc																										TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chr21:17203875_17203876delTT	ENST00000285681.2	+	16	2289_2290	c.1920_1921delTT	c.(1918-1923)tcttttfs	p.F641fs	USP25_ENST00000285679.6_Frame_Shift_Del_p.F641fs|USP25_ENST00000351097.5_Intron|USP25_ENST00000400183.2_Frame_Shift_Del_p.F641fs	NM_001283042.1	NP_001269971.1	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	641					protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TGAGGGACTCTTTTGGTGGTTA	0.366													-	17203876	TT	-	17203875	7	5	786	1	0	1	0	1	0	0	0	0	17158	1596	56	0	1982	0	USP25	21	17203875	Frame_Shift_Del	DEL	TT	TCGA-VW-A7QS-01A-12D-A33T-08		17203875	30926020	55	58039											
CRLF2	64109	broad.mit.edu	37	chrX	1325396	1325396	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgatggagaaatagagaatGtcgtctcgctgctctgcgtc	9	11	12	9	3	2	3	0	1	2	2	5	5	2	3	0	1	2	2	0	1	3	1			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:1325396G>A	ENST00000381567.3	-	3	278	c.279C>T	c.(277-279)gaC>gaT	p.D93D	CRLF2_ENST00000467626.1_5'UTR|CRLF2_ENST00000381566.1_Silent_p.D93D	NM_022148.2	NP_071431.2	Q9HC73	CRLF2_HUMAN	cytokine receptor-like factor 2	93						extracellular region|integral to membrane|plasma membrane	receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(10)|lung(9)	20		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)				AATAGAGAATGTCGTCTCGCT	0.517			"Mis, T"	"P2RY8, IGH@"	"B-ALL, Downs associated ALL"								A	1325396	G	A	1325396	2	1	786	1	0	0	0	0	0	0	0	1	3918	1368	48	2		2	CRLF2	23	1325396	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08		1325396	153945164	56	58040											
SHROOM2	357	broad.mit.edu	37	chrX	9907313	9907313	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agcacgtcggcccccaaggcGgagctgctgatcaagatgaa	11	5	13	12	3	1	3	1	2	0	1	2	4	1	4	2	3	3	3	2	3	3	0			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:9907313G>A	ENST00000380913.3	+	8	4308	c.4218G>A	c.(4216-4218)gcG>gcA	p.A1406A	SHROOM2_ENST00000418909.2_Silent_p.A241A	NM_001649.2	NP_001640.1	Q13796	SHRM2_HUMAN	shroom family member 2	1406	ASD2.				apical protein localization|brain development|cell migration|cell morphogenesis|cellular pigment accumulation|ear development|establishment of melanosome localization|eye pigment granule organization|lens morphogenesis in camera-type eye|melanosome organization	apical plasma membrane|cell-cell adherens junction|microtubule|tight junction	actin filament binding|beta-catenin binding|ligand-gated sodium channel activity			breast(4)|central_nervous_system(2)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(13)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	57		Hepatocellular(5;0.000888)				CCCCCAAGGCGGAGCTGCTGA	0.597													A	9907313	G	A	9907313	2	1	786	1	0	0	0	0	0	0	0	1	14388	1103	39	1		1	SHROOM2	23	9907313	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	8581917	9907313	145363247	57	58041											
SH3KBP1	30011	broad.mit.edu	37	chrX	19713826	19713826	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aggaaacattccagtcttccCgttgagaacaccttcccacc	11	9	6	15	1	1	1	0	1	1	1	4	3	4	2	5	1	2	1	5	1	2	4			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:19713826C>A	ENST00000397821.3	-	5	714	c.424G>T	c.(424-426)Ggg>Tgg	p.G142W	SH3KBP1_ENST00000379697.3_Missense_Mutation_p.G142W|SH3KBP1_ENST00000379698.4_Missense_Mutation_p.G105W	NM_031892.2	NP_114098.1	Q96B97	SH3K1_HUMAN	SH3-domain kinase binding protein 1	142	SH3 2.				apoptosis|cell-cell signaling|endocytosis|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway	cytoplasmic vesicle membrane|cytoskeleton|cytosol|focal adhesion|nucleus|synapse|synaptosome	SH3 domain binding			breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(8)|skin(4)	29						CCAGTCTTCCCGTTGAGAACA	0.473													A	19713826	C	A	19713826	3	1	786	1	0	0	0	0	1	0	0	0	14349	652	23	4	1645	4	SH3KBP1	23	19713826	Missense_Mutation	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	9806513	19713826	135556734	58	58042											
GAGE2A	729447	broad.mit.edu	37	chrX	49355814	49355816	+	In_Frame_Del	DEL	TGA	TGA	-																															ccccagcccgagcagttcagTgatgaagtggaaccagcaac																										TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:49355814_49355816delTGA	ENST00000362097.1	+	3	179_181	c.96_98delTGA	c.(94-99)agtgat>agt	p.D33del		NM_001127212.1	NP_001120684.1			G antigen 2A											endometrium(4)	4	Ovarian(276;0.236)					AGCAGTTCAGTGATGAAGTGGAA	0.453													-	49355816	TGA	-	49355814	7	5	786	1	0	1	0	1	0	0	0	0	6243	1693	59	0	1203	0	GAGE2A	23	49355814	In_Frame_Del	DEL	TGA	TCGA-VW-A7QS-01A-12D-A33T-08	29641988	49355814	105914746	59	58043											
DGAT2L6	347516	broad.mit.edu	37	chrX	69424320	69424320	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catggccggggcttcactcgCggatcctggggcttcctgcc	3	9	14	15	3	1	0	1	0	0	0	4	1	3	1	4	6	1	2	4	6	0	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:69424320C>T	ENST00000333026.3	+	6	913	c.813C>T	c.(811-813)cgC>cgT	p.R271R		NM_198512.1	NP_940914.1	Q6ZPD8	DG2L6_HUMAN	diacylglycerol O-acyltransferase 2-like 6	271					lipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	acyltransferase activity			breast(1)|endometrium(2)|large_intestine(3)|lung(5)|ovary(1)	12						GCTTCACTCGCGGATCCTGGG	0.502													T	69424320	C	T	69424320	2	4	786	1	0	0	0	0	0	0	0	1	4498	755	27	1		1	DGAT2L6	23	69424320	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	20068506	69424320	85846240	60	58044											
RGAG1	57529	broad.mit.edu	37	chrX	109694736	109694736	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tctgggggaatacctaccccGctcatgtcagatctagactc	9	10	9	13	1	4	2	2	0	2	2	5	3	4	3	3	2	2	1	3	2	4	3			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:109694736G>A	ENST00000465301.2	+	3	1137	c.891G>A	c.(889-891)ccG>ccA	p.P297P	RGAG1_ENST00000540313.1_Silent_p.P297P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	297										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						TACCTACCCCGCTCATGTCAG	0.483													A	109694736	G	A	109694736	2	1	786	1	0	0	0	0	0	0	0	1	13362	1074	38	1		1	RGAG1	23	109694736	Silent	SNP	G	TCGA-VW-A7QS-01A-12D-A33T-08	40270416	109694736	45575824	61	58045											
AMOT	154796	broad.mit.edu	37	chrX	112058796	112058796	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgctgtggctgctgctgctgCtgttgttggtggtgatggtg	1	16	18	6	0	0	1	0	1	0	0	0	1	0	1	0	4	5	8	0	4	0	2			TCGA-VW-A7QS-01A-12D-A33T-08	TCGA-VW-A7QS-10A-02D-A33W-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	956e5346-11d4-4d05-8ba1-404e24662ec2	3f4313bf-c69c-4fc2-9951-7886601a95db	g.chrX:112058796C>T	ENST00000371959.3	-	2	1181	c.1182G>A	c.(1180-1182)caG>caA	p.Q394Q	AMOT_ENST00000524145.1_Silent_p.Q394Q|AMOT_ENST00000304758.1_5'UTR|AMOT_ENST00000371958.1_Silent_p.Q162Q|AMOT_ENST00000371962.1_Silent_p.Q162Q	NM_001113490.1	NP_001106962.1	Q4VCS5	AMOT_HUMAN	angiomotin	394					actin cytoskeleton organization|cell-cell junction assembly|negative regulation of angiogenesis|negative regulation of vascular permeability|positive regulation of blood vessel endothelial cell migration|positive regulation of cell size|positive regulation of stress fiber assembly|regulation of cell migration	actin filament|cell surface|cytoplasm|endocytic vesicle|external side of plasma membrane|integral to membrane|lamellipodium|ruffle|stress fiber|tight junction	angiostatin binding|protein binding|receptor activity	p.Q394Q(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						gctgctgctgctgttgttggt	0.582													T	112058796	C	T	112058796	2	4	786	1	0	0	0	0	0	0	0	1	582	796	28	2		2	AMOT	23	112058796	Silent	SNP	C	TCGA-VW-A7QS-01A-12D-A33T-08	2364060	112058796	43211764	62	58046											
PLEKHN1	84069	broad.mit.edu	37	chr1	905681	905681	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcctggacctggagaaccagCgagaaaacctggagcagcca	13	4	12	12	1	0	2	0	0	0	2	1	6	1	4	5	3	5	1	5	3	3	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:905681C>T	ENST00000379409.2	+	3	238	c.208C>T	c.(208-210)Cga>Tga	p.R70*	PLEKHN1_ENST00000379410.3_Nonsense_Mutation_p.R70*|PLEKHN1_ENST00000379407.3_Nonsense_Mutation_p.R70*			Q494U1	PKHN1_HUMAN	pleckstrin homology domain containing, family N member 1	70										central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|skin(1)|urinary_tract(1)	9	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;4.31e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.00095)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GGAGAACCAGCGAGAAAACCT	0.617													T	905681	C	T	905681	4	4	787	1	0	0	0	0	0	1	0	0	12160	760	27	1	218	1	PLEKHN1	1	905681	Nonsense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		905681	248344940	1	58047											
GABRD	2563	broad.mit.edu	37	chr1	1957053	1957053	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgggtctggacagccgcttcGtggacaagctgtggctgccc	5	9	15	12	2	1	0	0	0	1	0	2	2	1	2	2	4	3	3	2	4	1	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:1957053G>A	ENST00000378585.4	+	4	429	c.346G>A	c.(346-348)Gtg>Atg	p.V116M		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	116						cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)		CAGCCGCTTCGTGGACAAGCT	0.617													A	1957053	G	A	1957053	3	1	787	1	0	0	0	0	1	0	0	0	6221	1145	40	1	360	1	GABRD	1	1957053	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	1051372	1957053	247293568	2	58048											
ASAP3	55616	broad.mit.edu	37	chr1	23758408	23758408	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcaggctggagacttcagaaCgatctggaatcagaaacatc	14	8	10	9	1	4	3	3	0	1	3	5	6	4	4	0	3	2	1	0	3	3	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:23758408C>T	ENST00000336689.3	-	23	2371	c.2327G>A	c.(2326-2328)cGt>cAt	p.R776H	ASAP3_ENST00000437606.2_Missense_Mutation_p.R767H|ASAP3_ENST00000495646.1_Missense_Mutation_p.R280H	NM_017707.3	NP_060177.2	Q8TDY4	ASAP3_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 3	776					regulation of ARF GTPase activity	cytoplasm	ARF GTPase activator activity|zinc ion binding			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	24						GACTTCAGAACGATCTGGAAT	0.502													T	23758408	C	T	23758408	3	4	787	1	0	0	0	0	1	0	0	0	1017	536	19	1	396	1	ASAP3	1	23758408	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	21801355	23758408	225492213	3	58049											
USP24	23358	broad.mit.edu	37	chr1	55563343	55563343	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	aatctcattaggtgaattacCaagacgctaggtaaagattt	15	12	8	6	1	1	3	1	1	1	2	2	3	1	3	1	2	1	2	1	2	8	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:55563343C>T	ENST00000294383.6	-	48	5642	c.5643G>A	c.(5641-5643)ttG>ttA	p.L1881L	USP24_ENST00000407756.1_Silent_p.L1721L	NM_015306.2	NP_056121.2	Q9UPU5	UBP24_HUMAN	ubiquitin specific peptidase 24	1881					ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity			breast(4)|cervix(1)|endometrium(8)|kidney(13)|large_intestine(7)|lung(16)|ovary(6)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	60						GGTGAATTACCAAGACGCTAG	0.338													T	55563343	C	T	55563343	2	4	787	1	0	0	0	0	0	0	0	1	17157	593	21	2		2	USP24	1	55563343	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	31804935	55563343	193687278	4	58050											
SORT1	6272	broad.mit.edu	37	chr1	109883360	109883360	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcaccttcggagagcacgCttgttatgtagacgccgcgg	8	9	12	12	5	1	2	1	0	0	2	2	3	1	2	2	2	1	4	2	2	2	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:109883360C>T	ENST00000256637.6	-	10	1308	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	SORT1_ENST00000538502.1_Missense_Mutation_p.S280N	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	417					endocytosis|endosome to lysosome transport|endosome transport via multivesicular body sorting pathway|glucose import|Golgi to endosome transport|induction of apoptosis by extracellular signals|myotube differentiation|negative regulation of apoptosis|negative regulation of lipoprotein lipase activity|neuropeptide signaling pathway|ossification|plasma membrane to endosome transport|regulation of gene expression|response to insulin stimulus|vesicle organization	cell surface|coated pit|early endosome|endoplasmic reticulum membrane|endosome membrane|Golgi cisterna membrane|integral to membrane|lysosomal membrane|microsome|nuclear membrane|perinuclear region of cytoplasm|plasma membrane	enzyme binding|nerve growth factor binding|nerve growth factor receptor activity|neurotensin receptor activity, non-G-protein coupled			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		GGAGAGCACGCTTGTTATGTA	0.537													T	109883360	C	T	109883360	3	4	787	1	0	0	0	0	1	0	0	0	15029	797	28	2	1289	2	SORT1	1	109883360	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	54320017	109883360	139367261	5	58051											
FCER1A	2205	broad.mit.edu	37	chr1	159275806	159275806	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctccttcaggcctctgctgaGgtggtgatggagggccagcc	5	9	15	12	0	2	2	1	2	1	0	3	3	3	3	4	5	2	1	4	5	0	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:159275806G>T	ENST00000368115.1	+	5	459	c.360G>T	c.(358-360)gaG>gaT	p.E120D	FCER1A_ENST00000368114.1_Missense_Mutation_p.E87D	NM_002001.3	NP_001992.1	P12319	FCERA_HUMAN	Fc fragment of IgE, high affinity I, receptor for; alpha polypeptide	120	Ig-like 2.					integral to plasma membrane				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(19)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33	all_hematologic(112;0.0429)				Benzylpenicilloyl Polylysine(DB00895)|Omalizumab(DB00043)	CCTCTGCTGAGGTGGTGATGG	0.448													T	159275806	G	T	159275806	3	4	787	1	0	0	0	0	1	0	0	0	5823	991	35	4	374	4	FCER1A	1	159275806	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	49392446	159275806	89974815	6	58052											
APOA2	336	broad.mit.edu	37	chr1	161192119	161192119	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	tattgtagcaaagagtgggtAgggacaggagctctaggact	12	9	15	5	0	1	1	0	0	1	1	1	4	1	4	0	4	2	4	0	4	5	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr1:161192119A>G	ENST00000594609.1	+	2	54	c.54A>G	c.(52-54)gtA>gtG	p.V18V	APOA2_ENST00000470459.2_3'UTR|APOA2_ENST00000367990.3_3'UTR|APOA2_ENST00000464492.1_3'UTR|APOA2_ENST00000463812.1_3'UTR|APOA2_ENST00000491350.1_3'UTR|APOA2_ENST00000468465.1_3'UTR																							AAGAGTGGGTAGGGACAGGAG	0.532													G	161192119	A	G	161192119	2	3	787	1	0	0	0	0	0	0	0	1	785	435	15	3		3	APOA2	1	161192119	Silent	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	1916313	161192119	88058502	7	58053											
AMMECR1L	83607	broad.mit.edu	37	chr2	128628858	128628858	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctgagtcctgaatgaagAttcatggctgagaaggtccc	10	10	11	10	0	1	5	1	4	0	2	4	6	4	5	3	2	0	1	3	2	3	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:128628858A>G	ENST00000272647.5	-	4	743	c.483T>C	c.(481-483)aaT>aaC	p.N161N	AMMECR1L_ENST00000393001.1_Silent_p.N161N	NM_001199140.1	NP_001186069.1	Q6DCA0	AMERL_HUMAN	AMMECR1-like	161	AMMECR1.									central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	9	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.07)		CTGAATGAAGATTCATGGCTG	0.448													G	128628858	A	G	128628858	2	3	787	1	0	0	0	0	0	0	0	1	579	330	12	3		3	AMMECR1L	2	128628858	Silent	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08		128628858	114570515	8	58054											
TTN	7273	broad.mit.edu	37	chr2	179489454	179489454	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ggcttagtgaattcaactggGggttctgaaagaatcatact	12	12	11	6	0	3	3	2	2	1	1	3	3	3	3	0	3	2	2	0	3	6	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179489454G>A	ENST00000589042.1	-	242	44777	c.44553C>T	c.(44551-44553)ccC>ccT	p.P14851P	TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000342992.6_Silent_p.P12283P|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000591111.1_Silent_p.P13210P|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000359218.5_Silent_p.P5911P|TTN_ENST00000460472.2_Silent_p.P5786P|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Silent_p.P5978P|TTN-AS1_ENST00000589907.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	13210	Fibronectin type-III 7.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATTCAACTGGGGGTTCTGAAA	0.478													A	179489454	G	A	179489454	2	1	787	1	0	0	0	0	0	0	0	1	16837	1219	43	2		2	TTN	2	179489454	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	50860596	179489454	63709919	9	58055											
TTN	7273	broad.mit.edu	37	chr2	179640529	179640529	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cataggattcatccttctttCgagacttgagctccacagcg	9	12	8	12	2	2	2	1	1	1	1	5	4	4	3	2	1	2	1	2	1	1	5	rs150884428		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:179640529C>T	ENST00000589042.1	-	28	6286	c.6062G>A	c.(6061-6063)cGa>cAa	p.R2021Q	TTN_ENST00000342992.6_Missense_Mutation_p.R2021Q|TTN_ENST00000360870.5_Missense_Mutation_p.R2021Q|TTN_ENST00000591111.1_Missense_Mutation_p.R2021Q|TTN_ENST00000359218.5_Missense_Mutation_p.R1975Q|TTN_ENST00000460472.2_Missense_Mutation_p.R1975Q|TTN_ENST00000342175.6_Missense_Mutation_p.R1975Q	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	1783							ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCCTTCTTTCGAGACTTGAG	0.458													T	179640529	C	T	179640529	3	4	787	1	0	0	0	0	1	0	0	0	16837	884	31	1	105266	1	TTN	2	179640529	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	151075	179640529	63558844	10	58056											
ZDBF2	57683	broad.mit.edu	37	chr2	207170473	207170473	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctagaggttcagaaatgagTtttgattgcagttcctcttt	9	17	9	6	0	3	4	1	2	2	2	4	4	4	4	1	1	1	4	1	1	2	7			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:207170473T>C	ENST00000374423.3	+	5	1607	c.1221T>C	c.(1219-1221)agT>agC	p.S407S		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	407							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						CAGAAATGAGTTTTGATTGCA	0.403													C	207170473	T	C	207170473	2	2	787	1	0	0	0	0	0	0	0	1	17700	1722	60	3		3	ZDBF2	2	207170473	Silent	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	27529944	207170473	36028900	11	58057											
SLC4A3	6508	broad.mit.edu	37	chr2	220497018	220497018	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaacgagctgatgctggaccGcagccaggagccccactggc	9	4	14	14	2	0	1	0	1	0	0	0	5	0	3	4	3	5	3	4	3	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr2:220497018G>A	ENST00000358055.3	+	8	1507	c.995G>A	c.(994-996)cGc>cAc	p.R332H	SLC4A3_ENST00000373762.3_Missense_Mutation_p.R359H|SLC4A3_ENST00000373760.2_Missense_Mutation_p.R332H|SLC4A3_ENST00000273063.6_Missense_Mutation_p.R359H|SLC4A3_ENST00000497589.1_3'UTR|SLC4A3_ENST00000317151.3_Missense_Mutation_p.R332H			P48751	B3A3_HUMAN	solute carrier family 4 (anion exchanger), member 3	332					bicarbonate transport	integral to plasma membrane|membrane fraction	inorganic anion exchanger activity			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(20)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	51		Renal(207;0.0183)		Epithelial(149;2.53e-07)|all cancers(144;5.57e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ATGCTGGACCGCAGCCAGGAG	0.667													A	220497018	G	A	220497018	3	1	787	1	0	0	0	0	1	0	0	0	14749	1087	38	1	1102	1	SLC4A3	2	220497018	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	13326545	220497018	22702355	12	58058											
ATP2B2	491	broad.mit.edu	37	chr3	10417231	10417231	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagtactgcacgtagacgggCgtgcactcaggcagccacgg	10	5	14	12	4	1	1	1	0	0	1	1	1	1	1	1	3	4	5	1	3	3	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:10417231C>T	ENST00000397077.1	-	10	1739	c.1164G>A	c.(1162-1164)acG>acA	p.T388T	ATP2B2_ENST00000360273.2_Silent_p.T433T|ATP2B2_ENST00000343816.4_Silent_p.T419T|ATP2B2_ENST00000352432.4_Silent_p.T433T|ATP2B2_ENST00000383800.4_Silent_p.T388T			Q01814	AT2B2_HUMAN	ATPase, Ca++ transporting, plasma membrane 2	433					ATP biosynthetic process|cytosolic calcium ion homeostasis|platelet activation	cytosol|integral to membrane|plasma membrane	ATP binding|calcium ion binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|PDZ domain binding|protein C-terminus binding			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(7)|large_intestine(19)|lung(29)|ovary(5)|prostate(2)|skin(4)|stomach(2)|urinary_tract(2)	74						CGTAGACGGGCGTGCACTCAG	0.587													T	10417231	C	T	10417231	2	4	787	1	0	0	0	0	0	0	0	1	1145	755	27	1		1	ATP2B2	3	10417231	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		10417231	187605199	13	58059											
DHX30	22907	broad.mit.edu	37	chr3	47887324	47887324	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gagcccatcctccgcaagatAgagaccttcctgaaccatgt	11	8	8	14	1	0	3	0	1	0	2	3	5	3	3	6	0	2	1	6	0	3	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:47887324A>G	ENST00000446256.2	+	11	1529	c.957A>G	c.(955-957)atA>atG	p.I319M	DHX30_ENST00000348968.4_Missense_Mutation_p.I330M|DHX30_ENST00000445061.1_Missense_Mutation_p.I358M|DHX30_ENST00000457607.1_Missense_Mutation_p.I386M	NM_014966.3	NP_055781.2	Q7L2E3	DHX30_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 30	358						mitochondrial nucleoid	ATP binding|ATP-dependent helicase activity|protein binding|RNA binding			endometrium(3)|kidney(1)|large_intestine(11)|lung(13)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	37				BRCA - Breast invasive adenocarcinoma(193;0.000696)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		TCCGCAAGATAGAGACCTTCC	0.597													G	47887324	A	G	47887324	3	3	787	1	0	0	0	0	1	0	0	0	4543	410	15	3	1115	3	DHX30	3	47887324	Missense_Mutation	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	37470093	47887324	150135106	14	58060											
ATXN7	6314	broad.mit.edu	37	chr3	63975932	63975932	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaatctccacaccctccccTgcctgccactgagccagctt	7	9	6	19	0	1	2	0	2	1	0	3	2	2	2	7	0	4	1	7	0	1	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:63975932T>A	ENST00000398590.3	+	10	1995	c.1442T>A	c.(1441-1443)cTg>cAg	p.L481Q	ATXN7_ENST00000487717.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000538065.1_Missense_Mutation_p.L481Q|ATXN7_ENST00000295900.6_Missense_Mutation_p.L481Q|ATXN7_ENST00000484332.1_Missense_Mutation_p.L336Q	NM_001177387.1	NP_001170858.1	O15265	ATX7_HUMAN	ataxin 7	481	Pro-rich.				cell death|histone deubiquitination|nucleus organization|regulation of transcription, DNA-dependent|transcription, DNA-dependent|visual perception	cytoplasm|nuclear matrix|nucleolus	protein binding|zinc ion binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		CACCCTCCCCTGCCTGCCACT	0.552													A	63975932	T	A	63975932	3	1	787	1	0	0	0	0	1	0	0	0	1220	1580	55	5	1540	5	ATXN7	3	63975932	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	16088608	63975932	134046498	15	58061											
PDZRN3	23024	broad.mit.edu	37	chr3	73432601	73432601	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggttaagagttcttggatcGtcatccagttatcgaagatt	10	14	11	6	2	2	2	1	0	1	2	5	4	3	3	1	2	0	3	1	2	3	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:73432601G>A	ENST00000263666.4	-	10	3230	c.3116C>T	c.(3115-3117)aCg>aTg	p.T1039M	PDZRN3_ENST00000462146.2_Missense_Mutation_p.T696M|PDZRN3_ENST00000466780.1_Missense_Mutation_p.T696M|PDZRN3_ENST00000479530.1_Missense_Mutation_p.T756M|PDZRN3_ENST00000535920.1_Missense_Mutation_p.T761M	NM_015009.1	NP_055824.1	Q9UPQ7	PZRN3_HUMAN	PDZ domain containing ring finger 3	1039							ubiquitin-protein ligase activity|zinc ion binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(13)|lung(31)|ovary(4)|pancreas(2)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	69		Prostate(10;0.114)|Lung NSC(201;0.187)|Lung SC(41;0.236)		BRCA - Breast invasive adenocarcinoma(55;0.00041)|Epithelial(33;0.0023)|LUSC - Lung squamous cell carcinoma(21;0.0048)|Lung(16;0.0105)|KIRC - Kidney renal clear cell carcinoma(39;0.111)|Kidney(39;0.134)		TTCTTGGATCGTCATCCAGTT	0.433													A	73432601	G	A	73432601	3	1	787	1	0	0	0	0	1	0	0	0	11785	1145	40	1	88	1	PDZRN3	3	73432601	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	9456669	73432601	124589829	16	58062											
PIK3CA	5290	broad.mit.edu	37	chr3	178952084	178952084	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaacaaatgaatgatgcaCatcatggtggctggacaaca	16	8	10	7	0	1	3	1	3	0	0	1	4	1	4	0	3	3	2	0	3	4	0	rs121913281		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr3:178952084C>T	ENST00000263967.3	+	21	3296	c.3139C>T	c.(3139-3141)Cat>Tat	p.H1047Y		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K.		H -> L (in cancer).|H -> R (in KERSEB; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane).|H -> Y (in cancer).		epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.H1047Y(37)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			GAATGATGCACATCATGGTGG	0.373	H1047Y(MFE280_ENDOMETRIUM)|H1047Y(TOV21G_OVARY)	57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178952084	C	T	178952084	3	4	787	1	0	0	0	0	1	0	0	0	11990	478	17	2	3217	2	PIK3CA	3	178952084	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	105519483	178952084	19070346	17	58063											
TEC	7006	broad.mit.edu	37	chr4	48139472	48139472	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcacattcaactagttcatcTattgtgcgcagcagatcttc	10	14	6	11	1	5	1	3	0	2	1	6	1	5	1	0	0	3	3	0	0	3	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:48139472T>C	ENST00000381501.3	-	18	2014	c.1857A>G	c.(1855-1857)atA>atG	p.I619M		NM_003215.2	NP_003206.2	P42680	TEC_HUMAN	tec protein tyrosine kinase	619	Protein kinase.				intracellular protein kinase cascade	cytosol	ATP binding|metal ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(1)|prostate(2)|skin(2)|stomach(1)	31						CTAGTTCATCTATTGTGCGCA	0.443													C	48139472	T	C	48139472	3	2	787	1	0	0	0	0	1	0	0	0	15842	1512	53	3	42	3	TEC	4	48139472	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		48139472	143014804	18	58064											
NAA11	84779	broad.mit.edu	37	chr4	80246628	80246628	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccccatctgcatagtatttaGgttccacctcactaatctga	10	13	5	13	0	3	1	1	1	2	0	4	1	4	1	4	1	1	3	4	1	4	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr4:80246628G>A	ENST00000286794.4	-	1	576	c.404C>T	c.(403-405)cCt>cTt	p.P135L		NM_032693.2	NP_116082.1	Q9BSU3	NAA11_HUMAN	N(alpha)-acetyltransferase 11, NatA catalytic subunit	135	N-acetyltransferase.					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(1)|pancreas(1)|skin(2)	23						ATAGTATTTAGGTTCCACCTC	0.488													A	80246628	G	A	80246628	3	1	787	1	0	0	0	0	1	0	0	0	10193	1000	35	2	289	2	NAA11	4	80246628	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	32107156	80246628	110907648	19	58065											
NKD2	85409	broad.mit.edu	37	chr5	1038429	1038431	+	In_Frame_Del	DEL	CAC	CAC	-																															cagtgatccagcggcacgagCaccaccaccaccacgagcac																										TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:1038429_1038431delCAC	ENST00000296849.5	+	10	1526_1528	c.1297_1299delCAC	c.(1297-1299)cacdel	p.H437del	NKD2_ENST00000382730.2_In_Frame_Del_p.P76del|NKD2_ENST00000274150.4_3'UTR	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	437	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			GCGGCACGAGcaccaccaccacc	0.685													-	1038431	CAC	-	1038429	7	5	787	1	0	1	0	1	0	0	0	0	10518	710	25	0	1335	0	NKD2	5	1038429	In_Frame_Del	DEL	CAC	TCGA-VW-A8FI-01A-11D-A36O-08		1038429	179876831	20	58066											
NUP155	9631	broad.mit.edu	37	chr5	37293066	37293066	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caaaaggtgcagtggcttctTcattctgttccagaatggat	10	13	10	8	0	3	1	1	0	2	1	4	2	4	2	1	3	1	3	1	3	3	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:37293066T>G	ENST00000231498.3	-	34	4155	c.3952A>C	c.(3952-3954)Aag>Cag	p.K1318Q	NUP155_ENST00000502533.1_5'UTR|NUP155_ENST00000381843.2_Missense_Mutation_p.K1259Q|NUP155_ENST00000513532.1_Missense_Mutation_p.K1254Q	NM_153485.1	NP_705618.1	O75694	NU155_HUMAN	nucleoporin 155kDa	1318					carbohydrate metabolic process|glucose transport|mRNA transport|nucleocytoplasmic transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear membrane|nuclear pore	protein binding|structural constituent of nuclear pore|transporter activity			endometrium(1)|kidney(16)|large_intestine(5)|lung(29)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	62	all_lung(31;0.000137)		COAD - Colon adenocarcinoma(61;0.14)|Colorectal(62;0.202)			AGTGGCTTCTTCATTCTGTTC	0.299													G	37293066	T	G	37293066	3	3	787	1	0	0	0	0	1	0	0	0	10832	1792	62	5	231	5	NUP155	5	37293066	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	36254637	37293066	143622194	21	58067											
PCDHA5	56143	broad.mit.edu	37	chr5	140203424	140203424	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcggcgggcgctgtgggtccCgaggctgccctggtggatgt	2	9	19	11	4	0	0	0	0	0	0	2	2	1	1	2	6	1	2	2	6	0	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr5:140203424C>T	ENST00000529859.1	+	1	2064	c.2064C>T	c.(2062-2064)ccC>ccT	p.P688P	PCDHA4_ENST00000530339.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Silent_p.P688P|PCDHA5_ENST00000378126.3_Silent_p.P688P|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron	NM_018908.2	NP_061731.1														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGTGGGTCCCGAGGCTGCCC	0.677													T	140203424	C	T	140203424	2	4	787	1	0	0	0	0	0	0	0	1	11603	639	23	1		1	PCDHA5	5	140203424	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	102910358	140203424	40711836	22	58068											
BTN3A2	11118	broad.mit.edu	37	chr6	26370798	26370798	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcatcagaaattccctcctcGgcctggaaaagacagccagc	12	7	8	14	1	2	2	2	0	0	2	5	3	4	3	4	2	2	0	4	2	3	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:26370798G>A	ENST00000356386.2	+	5	870	c.682G>A	c.(682-684)Ggc>Agc	p.G228S	BTN3A2_ENST00000377708.2_Missense_Mutation_p.G228S|BTN3A2_ENST00000396948.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000532994.1_3'UTR|BTN3A2_ENST00000396934.3_Missense_Mutation_p.G205S|BTN3A2_ENST00000527422.1_Missense_Mutation_p.G228S|BTN3A2_ENST00000508906.2_Missense_Mutation_p.G186S	NM_001197246.2|NM_001197247.1|NM_007047.3	NP_001184175.1|NP_001184176.1|NP_008978.2	P78410	BT3A2_HUMAN	butyrophilin, subfamily 3, member A2	228						integral to membrane				central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)	10						TTCCCTCCTCGGCCTGGAAAA	0.537													A	26370798	G	A	26370798	3	1	787	1	0	0	0	0	1	0	0	0	1573	1116	39	1	692	1	BTN3A2	6	26370798	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		26370798	144744269	23	58069											
SPDEF	25803	broad.mit.edu	37	chr6	34511928	34511928	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcaccaagtccaggctgcccGctggggcttggctgtcaatg	6	8	14	13	1	1	0	1	0	0	0	2	0	2	0	3	4	1	5	3	4	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:34511928G>A	ENST00000374037.3	-	2	719	c.305C>T	c.(304-306)gCg>gTg	p.A102V	SPDEF_ENST00000544425.1_Missense_Mutation_p.A102V	NM_012391.2	NP_036523.1	O95238	SPDEF_HUMAN	SAM pointed domain containing ETS transcription factor	102					negative regulation of survival gene product expression|negative regulation of transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(2)|skin(3)	15						CAGGCTGCCCGCTGGGGCTTG	0.677													A	34511928	G	A	34511928	3	1	787	1	0	0	0	0	1	0	0	0	15122	1087	38	1	722	1	SPDEF	6	34511928	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	8141130	34511928	136603139	24	58070											
DEFB112	245915	broad.mit.edu	37	chr6	50011490	50011490	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	atgacttccacctactaaagGtgatatggtgcccttcactt	10	13	7	11	0	1	2	1	2	0	0	2	2	2	2	3	2	2	0	3	2	4	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:50011490G>A	ENST00000322246.4	-	2	139	c.140C>T	c.(139-141)aCc>aTc	p.T47I		NM_001037498.1	NP_001032587.1	Q30KQ8	DB112_HUMAN	defensin, beta 112	47					defense response to bacterium	extracellular region				central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.042)					CCTACTAAAGGTGATATGGTG	0.408													A	50011490	G	A	50011490	3	1	787	1	0	0	0	0	1	0	0	0	4439	1261	44	2	204	2	DEFB112	6	50011490	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	15499562	50011490	121103577	25	58071											
FAM135A	57579	broad.mit.edu	37	chr6	71234964	71234964	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	agcaaagtgtctttctattgGagaatcattaactaaattac	15	14	6	6	0	3	1	1	0	2	1	3	2	3	1	0	1	3	1	0	1	7	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr6:71234964G>A	ENST00000418814.2	+	15	2791	c.2177G>A	c.(2176-2178)gGa>gAa	p.G726E	FAM135A_ENST00000361499.3_Missense_Mutation_p.G530E|FAM135A_ENST00000457062.2_Missense_Mutation_p.G513E|FAM135A_ENST00000505868.1_Missense_Mutation_p.G726E|FAM135A_ENST00000370479.3_Missense_Mutation_p.G513E|FAM135A_ENST00000505769.1_Intron	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	726										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						CTTTCTATTGGAGAATCATTA	0.318													A	71234964	G	A	71234964	3	1	787	1	0	0	0	0	1	0	0	0	5493	1174	41	2	2305	2	FAM135A	6	71234964	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	21223474	71234964	99880103	26	58072											
THSD7A	221981	broad.mit.edu	37	chr7	11521486	11521486	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgtcgttttccctgagcagGtgtgtgagcaggaggaccac	7	10	14	10	1	0	2	0	2	0	0	2	4	1	4	2	3	2	3	2	3	0	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:11521486G>T	ENST00000423059.4	-	7	2197	c.1946C>A	c.(1945-1947)aCc>aAc	p.T649N	AC004538.3_ENST00000445839.1_RNA	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A		TSP type-1 6.					integral to membrane				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		CCCTGAGCAGGTGTGTGAGCA	0.562										HNSCC(18;0.044)			T	11521486	G	T	11521486	3	4	787	1	0	0	0	0	1	0	0	0	15979	1261	44	4	3111	4	THSD7A	7	11521486	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		11521486	147617177	27	58073											
MPP6	51678	broad.mit.edu	37	chr7	24720070	24720070	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtggtatttattgcggctccGgagctagagacgttacgtgc	7	12	14	8	4	0	1	0	0	0	1	1	3	1	2	1	3	4	4	1	3	4	6	rs139735308		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:24720070G>A	ENST00000222644.5	+	11	1627	c.1377G>A	c.(1375-1377)ccG>ccA	p.P459P	MPP6_ENST00000409761.1_Silent_p.P347P|MPP6_ENST00000396475.2_Silent_p.P459P			Q9NZW5	MPP6_HUMAN	membrane protein, palmitoylated 6 (MAGUK p55 subfamily member 6)		Guanylate kinase-like.				protein complex assembly		protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(7)|pancreas(1)|skin(2)	20						TTGCGGCTCCGGAGCTAGAGA	0.413													A	24720070	G	A	24720070	2	1	787	1	0	0	0	0	0	0	0	1	9814	1103	39	1		1	MPP6	7	24720070	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	13198584	24720070	134418593	28	58074											
URGCP	55665	broad.mit.edu	37	chr7	43916839	43916839	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	atgtggtcacagcccaggtcCtggctgaagccctcagccac	8	7	11	15	0	2	1	2	1	0	0	3	1	3	1	4	3	3	1	4	3	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:43916839C>T	ENST00000336086.6	-	4	4330	c.2094G>A	c.(2092-2094)caG>caA	p.Q698Q	URGCP_ENST00000447717.3_Silent_p.Q698Q|URGCP_ENST00000453200.1_Silent_p.Q741Q|URGCP_ENST00000443736.1_Silent_p.Q698Q|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000223341.7_Silent_p.Q698Q|URGCP_ENST00000402306.3_Silent_p.Q732Q|URGCP_ENST00000497914.1_5'UTR			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	741					cell cycle	centrosome|nucleus	GTP binding			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						AGCCCAGGTCCTGGCTGAAGC	0.602													T	43916839	C	T	43916839	2	4	787	1	0	0	0	0	0	0	0	1	17128	680	24	2		2	URGCP	7	43916839	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	19196769	43916839	115221824	29	58075											
PCLO	27445	broad.mit.edu	37	chr7	82545708	82545708	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttgtggtggtataaactggCtgaattcagtttggggagca	9	14	14	4	0	1	1	1	1	0	0	1	2	1	2	0	5	2	4	0	5	4	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:82545708C>T	ENST00000333891.9	-	7	11931	c.11594G>A	c.(11593-11595)aGc>aAc	p.S3865N	PCLO_ENST00000423517.2_Missense_Mutation_p.S3865N|PCLO_ENST00000437081.1_Missense_Mutation_p.S585N	NM_033026.5	NP_149015.2	Q9Y6V0	PCLO_HUMAN	piccolo presynaptic cytomatrix protein		Gln-rich.				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity			breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TATAAACTGGCTGAATTCAGT	0.463													T	82545708	C	T	82545708	3	4	787	1	0	0	0	0	1	0	0	0	11659	797	28	2	3927	2	PCLO	7	82545708	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	38628869	82545708	76592955	30	58076											
OR2A25	392138	broad.mit.edu	37	chr7	143771612	143771612	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gctggctgcatgacccagatGtttctgtttttgagttttgc	5	17	11	8	0	1	3	0	2	1	1	1	3	1	3	1	1	2	6	1	1	0	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr7:143771612G>A	ENST00000408898.2	+	1	338	c.300G>A	c.(298-300)atG>atA	p.M100I		NM_001004488.1	NP_001004488.1	A4D2G3	O2A25_HUMAN	olfactory receptor, family 2, subfamily A, member 25	100					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(16)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	24	Melanoma(164;0.0783)					TGACCCAGATGTTTCTGTTTT	0.537													A	143771612	G	A	143771612	3	1	787	1	0	0	0	0	1	0	0	0	11054	1377	48	2	302	2	OR2A25	7	143771612	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	61225904	143771612	15367051	31	58077											
RP1L1	94137	broad.mit.edu	37	chr8	10469466	10469466	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtctcaggttcccagaggcCtgtgtcctggtgctcgatga	5	11	14	11	1	1	2	1	1	1	1	5	3	3	2	3	4	1	2	3	4	0	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:10469466C>T	ENST00000382483.3	-	4	2365	c.2142G>A	c.(2140-2142)caG>caA	p.Q714Q		NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN	retinitis pigmentosa 1-like 1	714					intracellular signal transduction					breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		TCCCAGAGGCCTGTGTCCTGG	0.612													T	10469466	C	T	10469466	2	4	787	1	0	0	0	0	0	0	0	1	13624	680	24	2		2	RP1L1	8	10469466	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		10469466	135894556	32	58078											
GSDMC	56169	broad.mit.edu	37	chr8	130789815	130789815	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaccaaatttttgctaatgcGttccaacatggagggcatgt	11	12	10	8	1	0	0	0	0	0	0	1	2	1	1	2	2	3	3	2	2	3	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr8:130789815G>A	ENST00000276708.4	-	2	900	c.19C>T	c.(19-21)Cgc>Tgc	p.R7C		NM_031415.2	NP_113603.1	Q9BYG8	GSDMC_HUMAN	gasdermin C	7						mitochondrion				autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|pancreas(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	26						TTGCTAATGCGTTCCAACATG	0.408													A	130789815	G	A	130789815	3	1	787	1	0	0	0	0	1	0	0	0	6873	1145	40	1	1559	1	GSDMC	8	130789815	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	120320349	130789815	15574207	33	58079											
CDC14B	8555	broad.mit.edu	37	chr9	99284801	99284801	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gactcacgtgagaggaatagCgtttgttttggattgtcttc	8	15	12	6	2	2	1	1	1	1	1	3	5	2	3	0	2	1	2	0	2	2	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:99284801C>T	ENST00000375241.1	-	12	1781	c.1330G>A	c.(1330-1332)Gct>Act	p.A444T	CDC14B_ENST00000375236.1_Missense_Mutation_p.A444T|CDC14B_ENST00000481149.1_5'UTR|CDC14B_ENST00000375240.3_Missense_Mutation_p.A444T|CDC14B_ENST00000375242.3_Missense_Mutation_p.A407T|CDC14B_ENST00000265659.2_Missense_Mutation_p.A444T|CDC14B_ENST00000463569.1_Missense_Mutation_p.A444T	NM_003671.3|NM_033331.2	NP_003662.1|NP_201588.1	O60729	CC14B_HUMAN	cell division cycle 14B	444					activation of anaphase-promoting complex activity|DNA repair|G2/M transition DNA damage checkpoint	nucleolus|nucleoplasm	protein binding|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|ovary(1)|prostate(1)	15		Acute lymphoblastic leukemia(62;0.0559)				AGAGGAATAGCGTTTGTTTTG	0.423													T	99284801	C	T	99284801	3	4	787	1	0	0	0	0	1	0	0	0	3087	768	27	1	178	1	CDC14B	9	99284801	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		99284801	41928630	34	58080											
SURF2	6835	broad.mit.edu	37	chr9	136227975	136227975	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gaagttcaagagtcatcaccGcaaacccaagagcttcagct	14	7	8	12	1	4	2	4	0	0	2	4	3	4	2	2	0	3	4	2	0	4	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr9:136227975G>A	ENST00000371964.4	+	6	772	c.731G>A	c.(730-732)cGc>cAc	p.R244H		NM_017503.3	NP_059973.4	Q15527	SURF2_HUMAN	surfeit 2	244							protein binding			breast(1)|large_intestine(1)|lung(4)	6				OV - Ovarian serous cystadenocarcinoma(145;4.87e-07)|Epithelial(140;4.02e-06)|all cancers(34;3.71e-05)		AGTCATCACCGCAAACCCAAG	0.463													A	136227975	G	A	136227975	3	1	787	1	0	0	0	0	1	0	0	0	15500	1087	38	1	753	1	SURF2	9	136227975	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	36943174	136227975	4985456	35	58081											
CUBN	8029	broad.mit.edu	37	chr10	16957131	16957131	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgctagaagtgtctatgctGtcaggaatggtgtttccaca	9	14	11	7	0	2	1	1	0	1	1	3	2	3	2	1	2	2	3	1	2	4	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:16957131G>T	ENST00000377833.4	-	47	7316	c.7251C>A	c.(7249-7251)gaC>gaA	p.D2417E		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2417	CUB 17.				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TGTCTATGCTGTCAGGAATGG	0.428													T	16957131	G	T	16957131	3	4	787	1	0	0	0	0	1	0	0	0	4084	1368	48	4	3704	4	CUBN	10	16957131	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		16957131	118577616	36	58082											
NEBL	10529	broad.mit.edu	37	chr10	21462709	21462709	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ctcaccttatccaggcagttGactttctcggtgggatacac	8	12	9	12	1	2	1	1	1	1	0	4	2	3	2	2	3	1	2	2	3	2	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:21462709G>A	ENST00000417816.2	-	1	407	c.54C>T	c.(52-54)gtC>gtT	p.V18V	NEBL_ENST00000464278.1_5'UTR	NM_001173484.1|NM_213569.2	NP_001166955.1|NP_998734.1	O76041	NEBL_HUMAN	nebulette	0					regulation of actin filament length		actin binding|structural constituent of muscle			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CCAGGCAGTTGACTTTCTCGG	0.677													A	21462709	G	A	21462709	2	1	787	1	0	0	0	0	0	0	0	1	10379	1277	45	2		2	NEBL	10	21462709	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	4505578	21462709	114072038	37	58083											
CRTAC1	55118	broad.mit.edu	37	chr10	99640052	99640052	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctcgtagccccgactgcaCttcttgttggtccggcacct	4	11	11	15	3	1	0	0	0	1	0	3	1	2	0	4	3	2	5	4	3	1	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:99640052C>T	ENST00000298819.4	-	13	2085	c.1730G>A	c.(1729-1731)aGt>aAt	p.S577N	CRTAC1_ENST00000370597.3_Silent_p.K591K|CRTAC1_ENST00000370591.2_Silent_p.K591K			Q9NQ79	CRAC1_HUMAN	cartilage acidic protein 1	0	EGF-like.					proteinaceous extracellular matrix	calcium ion binding			autonomic_ganglia(1)|breast(1)|endometrium(6)|kidney(3)|large_intestine(7)|lung(6)|ovary(6)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	35		Colorectal(252;0.24)		Epithelial(162;2.18e-10)|all cancers(201;3.27e-09)		CCCGACTGCACTTCTTGTTGG	0.572													T	99640052	C	T	99640052	3	4	787	1	0	0	0	0	1	0	0	0	3927	564	20	2	220	2	CRTAC1	10	99640052	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	78177343	99640052	35894695	38	58084											
C10orf76	79591	broad.mit.edu	37	chr10	103753315	103753315	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cattctatgtaagtttactcGaaaattcatgttgtcatcat	12	17	5	7	1	4	0	3	0	1	0	5	1	4	0	0	0	1	3	0	0	5	7			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr10:103753315G>A	ENST00000370033.4	-	17	1374	c.1255C>T	c.(1255-1257)Cga>Tga	p.R419*		NM_024541.2	NP_078817.2	Q5T2E6	CJ076_HUMAN	chromosome 10 open reading frame 76	419						integral to membrane				autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|upper_aerodigestive_tract(2)	24		Colorectal(252;0.123)		Epithelial(162;2.41e-08)|all cancers(201;6.41e-07)		AAGTTTACTCGAAAATTCATG	0.313													A	103753315	G	A	103753315	4	1	787	1	0	0	0	0	0	1	0	0	1627	1066	37	1	854	1	C10orf76	10	103753315	Nonsense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	4113263	103753315	31781432	39	58085											
TRPM5	29850	broad.mit.edu	37	chr11	2432644	2432644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agggccggtagagcacccggCggaagatccactccaggcgg	9	3	16	13	4	0	2	0	0	0	2	2	3	2	3	4	6	1	2	4	6	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:2432644C>T	ENST00000452833.1	-	18	2734	c.2726G>A	c.(2725-2727)cGc>cAc	p.R909H	TRPM5_ENST00000528453.1_Missense_Mutation_p.R907H|TRPM5_ENST00000155858.6_Missense_Mutation_p.R907H|TRPM5_ENST00000533060.1_Missense_Mutation_p.R907H			Q9NZQ8	TRPM5_HUMAN	transient receptor potential cation channel, subfamily M, member 5	907						integral to membrane|plasma membrane	receptor activity|voltage-gated ion channel activity			breast(1)|central_nervous_system(1)|endometrium(4)|liver(1)|lung(8)|ovary(2)|prostate(2)|skin(2)|urinary_tract(2)	23		Medulloblastoma(188;0.0049)|Breast(177;0.00586)|all_epithelial(84;0.0075)|Ovarian(85;0.0256)|all_neural(188;0.0311)		BRCA - Breast invasive adenocarcinoma(625;0.00147)|LUSC - Lung squamous cell carcinoma(625;0.191)		GAGCACCCGGCGGAAGATCCA	0.627													T	2432644	C	T	2432644	3	4	787	1	0	0	0	0	1	0	0	0	16690	768	27	1	805	1	TRPM5	11	2432644	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		2432644	132573872	40	58086											
MRGPRE	116534	broad.mit.edu	37	chr11	3249242	3249242	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtagacgacgggcttggccGcgcagtgcacggcggccatg	7	5	17	12	6	0	1	0	0	0	1	0	2	0	1	2	4	1	4	2	4	1	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:3249242G>A	ENST00000389832.5	-	2	1094	c.788C>T	c.(787-789)gCg>gTg	p.A263V	MRGPRE_ENST00000436689.2_Missense_Mutation_p.A262V|AC109309.4_ENST00000418995.2_RNA			Q86SM8	MRGRE_HUMAN	MAS-related GPR, member E	262						integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	19		Medulloblastoma(188;0.00106)|all_epithelial(84;0.00111)|Breast(177;0.00328)|Ovarian(85;0.00556)|all_neural(188;0.00681)		BRCA - Breast invasive adenocarcinoma(625;0.00529)|LUSC - Lung squamous cell carcinoma(625;0.19)		GGGCTTGGCCGCGCAGTGCAC	0.672													A	3249242	G	A	3249242	3	1	787	1	0	0	0	0	1	0	0	0	9840	1087	38	1	154	1	MRGPRE	11	3249242	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	816598	3249242	131757274	41	58087											
TRIM5	85363	broad.mit.edu	37	chr11	5686810	5686810	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacatgagcctaatagagaaCataaaattctaaaagataaa	23	8	5	5	0	1	3	0	1	1	2	1	4	1	3	1	0	3	0	1	0	10	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:5686810C>A	ENST00000396847.3	-	7	1206	c.971G>T	c.(970-972)tGt>tTt	p.C324F	TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Intron|TRIM5_ENST00000380034.3_Intron|TRIM5_ENST00000396855.3_Intron|TRIM5_ENST00000483835.1_Intron			Q9C035	TRIM5_HUMAN	tripartite motif containing 5	0	B30.2/SPRY.				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TAATAGAGAACATAAAATTCT	0.373											OREG0003727	type=REGULATORY REGION|Gene=AK074363|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay	A	5686810	C	A	5686810	3	1	787	1	0	0	0	0	1	0	0	0	16626	478	17	4	757	4	TRIM5	11	5686810	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	2437568	5686810	129319706	42	58088											
OR4D9	390199	broad.mit.edu	37	chr11	59283161	59283161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gccctgcatctatgtctatgCccggcccttcactgccctcc	4	11	7	19	1	3	0	1	0	2	0	4	0	4	0	5	1	3	1	5	1	2	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr11:59283161C>T	ENST00000329328.3	+	1	776	c.776C>T	c.(775-777)gCc>gTc	p.A259V		NM_001004711.1	NP_001004711.1	Q8NGE8	OR4D9_HUMAN	olfactory receptor, family 4, subfamily D, member 9	259					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(1)|kidney(2)|large_intestine(3)|lung(14)|prostate(5)|upper_aerodigestive_tract(1)	26						TATGTCTATGCCCGGCCCTTC	0.552													T	59283161	C	T	59283161	3	4	787	1	0	0	0	0	1	0	0	0	11135	739	26	2	778	2	OR4D9	11	59283161	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	53596351	59283161	75723355	43	58089											
GYS2	2998	broad.mit.edu	37	chr12	21728850	21728850	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatatcagcatatcattggCttctcggtcatgataaggaa	14	12	8	7	1	4	1	3	1	1	0	5	2	4	2	0	3	1	2	0	3	5	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:21728850C>T	ENST00000261195.2	-	3	699	c.445G>A	c.(445-447)Gcc>Acc	p.A149T		NM_021957.3	NP_068776.2	P54840	GYS2_HUMAN	glycogen synthase 2 (liver)	149					glucose metabolic process|glycogen biosynthetic process|response to glucose stimulus	cortical actin cytoskeleton|cytosol|ectoplasm|insoluble fraction|soluble fraction	glycogen (starch) synthase activity|protein homodimerization activity			NS(1)|breast(2)|endometrium(5)|kidney(1)|large_intestine(14)|lung(14)|prostate(6)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	48						ATATCATTGGCTTCTCGGTCA	0.438													T	21728850	C	T	21728850	3	4	787	1	0	0	0	0	1	0	0	0	6968	797	28	2	1722	2	GYS2	12	21728850	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		21728850	112123045	44	58090											
HDAC7	51564	broad.mit.edu	37	chr12	48196010	48196010	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccgggtttgactcttacctgCgccagtggggctgcagtagt	5	11	14	11	2	1	1	0	1	1	0	1	1	1	1	3	3	3	4	3	3	2	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:48196010C>T	ENST00000080059.7	-	2	66	c.67G>A	c.(67-69)Gca>Aca	p.A23T	HDAC7_ENST00000427332.2_5'UTR|HDAC7_ENST00000354334.3_Missense_Mutation_p.A23T|HDAC7_ENST00000380610.4_Missense_Mutation_p.A40T|HDAC7_ENST00000552960.1_Intron	NM_015401.3	NP_056216.2	Q8WUI4	HDAC7_HUMAN	histone deacetylase 7	207	Interaction with MEF2C (By similarity).|Transcription repression 1 (By similarity).				negative regulation of interleukin-2 production|negative regulation of osteoblast differentiation|positive regulation of cell migration involved in sprouting angiogenesis|transcription, DNA-dependent	cytoplasm|histone deacetylase complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|protein kinase C binding|repressing transcription factor binding			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25				GBM - Glioblastoma multiforme(48;0.137)		CTCTTACCTGCGCCAGTGGGG	0.602											OREG0021756	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	48196010	C	T	48196010	3	4	787	1	0	0	0	0	1	0	0	0	7067	768	27	1	3008	1	HDAC7	12	48196010	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	26467160	48196010	85655885	45	58091											
MYF6	4618	broad.mit.edu	37	chr12	81101548	81101548	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctatttcttctacttggatgGggaaaatgttactctgcagc	9	15	9	8	0	3	0	0	0	3	0	3	2	3	2	0	3	4	2	0	3	5	6			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:81101548G>C	ENST00000228641.3	+	1	272	c.50G>C	c.(49-51)gGg>gCg	p.G17A		NM_002469.2	NP_002460.1	P23409	MYF6_HUMAN	myogenic factor 6 (herculin)	17					muscle cell fate commitment|positive regulation of muscle cell differentiation|positive regulation of transcription from RNA polymerase II promoter|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity			central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(12)|skin(1)	26						TACTTGGATGGGGAAAATGTT	0.498													C	81101548	G	C	81101548	3	2	787	1	0	0	0	0	1	0	0	0	10104	1232	43	4	52	4	MYF6	12	81101548	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	32905538	81101548	52750347	46	58092											
CHST11	50515	broad.mit.edu	37	chr12	105151445	105151445	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ccccacctatgcaaagtctaCgagaactactgatgaaatga	15	8	7	11	1	1	4	0	3	1	1	1	5	1	4	3	0	4	1	3	0	6	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:105151445C>T	ENST00000303694.5	+	3	1362	c.923C>T	c.(922-924)aCg>aTg	p.T308M	CHST11_ENST00000549260.1_Missense_Mutation_p.T303M	NM_018413.5	NP_060883.1	Q9NPF2	CHSTB_HUMAN	carbohydrate (chondroitin 4) sulfotransferase 11	308					chondroitin sulfate biosynthetic process	Golgi membrane|integral to membrane	chondroitin 4-sulfotransferase activity|N-acetylgalactosamine 4-O-sulfotransferase activity			breast(2)|endometrium(2)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(1)	18						GCAAAGTCTACGAGAACTACT	0.473													T	105151445	C	T	105151445	3	4	787	1	0	0	0	0	1	0	0	0	3429	536	19	1	933	1	CHST11	12	105151445	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	24049897	105151445	28700450	47	58093											
PTPN11	5781	broad.mit.edu	37	chr12	112888199	112888199	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	gtatggaggggagaaatttgCcactttggctgagttggtcc	8	12	15	6	0	0	2	0	1	0	1	1	4	1	3	2	5	1	3	2	5	2	4	rs121918454		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:112888199C>A	ENST00000351677.2	+	3	413	c.215C>A	c.(214-216)gCc>gAc	p.A72D	PTPN11_ENST00000392597.1_Missense_Mutation_p.A72D	NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	72	SH2 1.		A -> G (in NS1).|A -> S (in NS1).|A -> T (in JMML).|A -> V (in JMML).		axon guidance|cell junction assembly|ephrin receptor signaling pathway|epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|interferon-gamma-mediated signaling pathway|leukocyte migration|platelet activation|regulation of cell adhesion mediated by integrin|regulation of interferon-gamma-mediated signaling pathway|regulation of type I interferon-mediated signaling pathway|T cell costimulation|type I interferon-mediated signaling pathway	cytosol	non-membrane spanning protein tyrosine phosphatase activity|protein binding	p.A72V(35)|p.A72D(3)		NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						GAGAAATTTGCCACTTTGGCT	0.418			Mis		"JMML, AML, MDS"		Noonan Syndrome		Noonan syndrome				A	112888199	C	A	112888199	3	1	787	1	0	0	0	0	1	0	0	0	12866	739	26	4	225	4	PTPN11	12	112888199	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	7736754	112888199	20963696	48	58094											
TMEM132D	121256	broad.mit.edu	37	chr12	129566495	129566495	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cacaaactgcgtcaggacccGcaccatggcgtgctggtact	9	7	11	14	3	1	0	1	0	0	0	1	1	1	1	2	3	4	3	2	3	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr12:129566495G>A	ENST00000422113.2	-	7	2058	c.1732C>T	c.(1732-1734)Cgg>Tgg	p.R578W	TMEM132D_ENST00000389441.4_Missense_Mutation_p.R116W	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	578						integral to membrane		p.R578W(2)		NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		GTCAGGACCCGCACCATGGCG	0.652													A	129566495	G	A	129566495	3	1	787	1	0	0	0	0	1	0	0	0	16147	1086	38	1	1579	1	TMEM132D	12	129566495	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	16678296	129566495	4285400	49	58095											
FRY	10129	broad.mit.edu	37	chr13	32653043	32653043	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcacagggagaaagggcCgccaaccatgctacccatca	13	3	10	15	2	1	1	1	0	0	1	1	2	1	1	4	2	3	2	4	2	3	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr13:32653043C>T	ENST00000380250.3	+	2	639	c.143C>T	c.(142-144)cCg>cTg	p.P48L		NM_023037.2	NP_075463.2	Q5TBA9	FRY_HUMAN	furry homolog (Drosophila)	48					regulation of transcription, DNA-dependent|transcription, DNA-dependent	integral to membrane				NS(3)|breast(4)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(31)|lung(50)|ovary(5)|pancreas(1)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	132		Lung SC(185;0.0271)		all cancers(112;4.81e-05)|Epithelial(112;0.000656)|OV - Ovarian serous cystadenocarcinoma(117;0.0123)|BRCA - Breast invasive adenocarcinoma(63;0.0295)|GBM - Glioblastoma multiforme(144;0.104)		GAGAAAGGGCCGCCAACCATG	0.502													T	32653043	C	T	32653043	3	4	787	1	0	0	0	0	1	0	0	0	6115	652	23	1	149	1	FRY	13	32653043	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		32653043	82516835	50	58096											
ZFYVE26	23503	broad.mit.edu	37	chr14	68265336	68265336	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagttgagaagagatttgcaGcacctacaaaaacatgtaca	18	8	8	7	0	0	2	0	1	0	2	0	4	0	2	1	0	5	4	1	0	6	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:68265336G>A	ENST00000347230.4	-	11	1781	c.1643C>T	c.(1642-1644)gCt>gTt	p.A548V	ZFYVE26_ENST00000555452.1_Missense_Mutation_p.A548V	NM_015346.3	NP_056161.2	Q68DK2	ZFY26_HUMAN	zinc finger, FYVE domain containing 26	548					cell cycle|cell death|cytokinesis|double-strand break repair via homologous recombination	centrosome|midbody	metal ion binding|phosphatidylinositol-3-phosphate binding|protein binding			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(8)|lung(39)|ovary(12)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	94				all cancers(60;0.000763)|OV - Ovarian serous cystadenocarcinoma(108;0.0011)|BRCA - Breast invasive adenocarcinoma(234;0.0115)		GAGATTTGCAGCACCTACAAA	0.443													A	68265336	G	A	68265336	3	1	787	1	0	0	0	0	1	0	0	0	17769	971	34	2	6104	2	ZFYVE26	14	68265336	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		68265336	39084204	51	58097											
MAP3K9	4293	broad.mit.edu	37	chr14	71227862	71227862	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtgatcttcagaatcttgttGctcaggtctccattctccac	7	15	7	12	0	6	2	2	1	4	1	8	2	6	2	2	1	1	2	2	1	1	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr14:71227862G>T	ENST00000554752.2	-	3	857	c.858C>A	c.(856-858)agC>agA	p.S286R	MAP3K9_ENST00000555993.2_Missense_Mutation_p.S286R|MAP3K9_ENST00000553414.1_5'UTR|MAP3K9_ENST00000381250.4_Missense_Mutation_p.S286R|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S23R	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	286	Protein kinase.				activation of JUN kinase activity|protein autophosphorylation		ATP binding|JUN kinase kinase kinase activity|MAP kinase kinase activity|protein homodimerization activity			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		GAATCTTGTTGCTCAGGTCTC	0.493													T	71227862	G	T	71227862	3	4	787	1	0	0	0	0	1	0	0	0	9332	1310	46	4	2542	4	MAP3K9	14	71227862	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	2962526	71227862	36121678	52	58098											
NLRC5	84166	broad.mit.edu	37	chr16	57054711	57054711	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aaagacccagaatggctgaaCgccaagatgaagttcttcct	14	8	9	10	1	1	5	0	2	1	3	2	5	2	5	3	1	1	2	3	1	5	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:57054711C>T	ENST00000436936.1	+	3	312	c.87C>T	c.(85-87)aaC>aaT	p.N29N	NLRC5_ENST00000308149.7_Silent_p.N29N|NLRC5_ENST00000262510.6_Silent_p.N29N|NLRC5_ENST00000539144.1_Silent_p.N29N			Q86WI3	NLRC5_HUMAN	NLR family, CARD domain containing 5	29					defense response to virus|innate immune response|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|negative regulation of type I interferon-mediated signaling pathway|positive regulation of interferon-gamma-mediated signaling pathway|positive regulation of MHC class I biosynthetic process|positive regulation of transcription from RNA polymerase II promoter|positive regulation of type I interferon-mediated signaling pathway|regulation of kinase activity	cytosol|nucleus	ATP binding|protein binding|RNA polymerase II core promoter sequence-specific DNA binding			NS(2)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(21)|ovary(8)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	75		all_neural(199;0.225)				AATGGCTGAACGCCAAGATGA	0.562													T	57054711	C	T	57054711	2	4	787	1	0	0	0	0	0	0	0	1	10546	535	19	1		1	NLRC5	16	57054711	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		57054711	33300042	53	58099											
HYDIN	54768	broad.mit.edu	37	chr16	71007758	71007758	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aacaggcttttggctctggaCgaaccattcacaagggactt	11	10	10	10	1	2	0	1	0	1	0	2	3	2	2	1	4	2	2	1	4	3	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr16:71007758C>T	ENST00000393567.2	-	34	5353	c.5203G>A	c.(5203-5205)Gtc>Atc	p.V1735I		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	1735										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGCTCTGGACGAACCATTCA	0.483													T	71007758	C	T	71007758	3	4	787	1	0	0	0	0	1	0	0	0	7525	536	19	1	10374	1	HYDIN	16	71007758	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	13953047	71007758	19346995	54	58100											
TP53	7157	broad.mit.edu	37	chr17	7578400	7578400	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	ctgagcagcgctcatggtggGggcagcgcctcacaacctcc	7	6	13	15	2	2	1	2	1	0	0	3	1	3	1	3	3	4	3	3	3	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578400G>T	ENST00000420246.2	-	5	662	c.530C>A	c.(529-531)cCc>cAc	p.P177H	TP53_ENST00000413465.2_Missense_Mutation_p.P177H|TP53_ENST00000269305.4_Missense_Mutation_p.P177H|TP53_ENST00000359597.4_Missense_Mutation_p.P177H|TP53_ENST00000574684.1_5'UTR|TP53_ENST00000455263.2_Missense_Mutation_p.P177H|TP53_ENST00000445888.2_Missense_Mutation_p.P177H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	177	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		CP -> FS (in a sporadic cancer; somatic mutation).|P -> A (in a sporadic cancer; somatic mutation).|P -> F (in sporadic cancers; somatic mutation; requires 2 nucleotide substitutions).|P -> H (in sporadic cancers; somatic mutation).|P -> I (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in sporadic cancers; somatic mutation).|P -> T (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.P177R(18)|p.P177L(17)|p.P177_C182delPHHERC(8)|p.0?(8)|p.C176_R181delCPHHER(3)|p.R174fs*24(3)|p.P177H(3)|p.R175_E180delRCPHHE(3)|p.P177fs*3(2)|p.V173fs*59(2)|p.R174fs*1(2)|p.C176fs*65(1)|p.C176_P177delCP(1)|p.V173fs*69(1)|p.C176fs*68(1)|p.P177_H179delPHH(1)|p.V173fs*23(1)|p.R174_H178>S(1)|p.V172_E180delVVRRCPHHE(1)|p.R174_H179delRRCPHH(1)|p.E171fs*1(1)|p.P177fs*69(1)|p.R175_H178>X(1)|p.H168fs*69(1)|p.E171_H179delEVVRRCPHH(1)|p.P45R(1)|p.R81fs*24(1)|p.R174_E180>K(1)|p.P177I(1)|p.P177_E180delPHHE(1)|p.R42fs*24(1)|p.P84R(1)|p.R174fs*3(1)|p.E171fs*61(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)		CTCATGGTGGGGGCAGCGCCT	0.647		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)			T	7578400	G	T	7578400	3	4	787	1	0	0	0	0	1	0	0	0	16482	1232	43	4	768	4	TP53	17	7578400	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		7578400	73616810	55	58101											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	7	5	18	11	4	1	0	1	0	0	0	1	2	1	1	2	5	3	1	2	5	2	0	rs28934874		TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:7578479G>C	ENST00000420246.2	-	5	583	c.451C>G	c.(451-453)Ccc>Gcc	p.P151A	TP53_ENST00000413465.2_Missense_Mutation_p.P151A|TP53_ENST00000269305.4_Missense_Mutation_p.P151A|TP53_ENST00000359597.4_Missense_Mutation_p.P151A|TP53_ENST00000455263.2_Missense_Mutation_p.P151A|TP53_ENST00000445888.2_Missense_Mutation_p.P151A	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			C	7578479	G	C	7578479	3	2	787	1	0	0	0	0	1	0	0	0	16482	1261	44	4	847	4	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	79	7578479	73616731	56	58102											
DNAH9	1770	broad.mit.edu	37	chr17	11666834	11666834	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctggaatgtctcctgaccaCggaggacatccctgcagact	9	9	10	13	1	2	2	0	1	2	1	4	5	3	5	3	3	1	1	3	3	1	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:11666834C>T	ENST00000262442.4	+	36	7141	c.7073C>T	c.(7072-7074)aCg>aTg	p.T2358M	DNAH9_ENST00000454412.2_Missense_Mutation_p.T2358M	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9						cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		CTCCTGACCACGGAGGACATC	0.502													T	11666834	C	T	11666834	3	4	787	1	0	0	0	0	1	0	0	0	4647	536	19	1	7215	1	DNAH9	17	11666834	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	4088355	11666834	69528376	57	58103											
NOS2	4843	broad.mit.edu	37	chr17	26084290	26084290	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcagagcgctgacatctcCaggctgctgggctgcaccgc	6	7	12	16	2	2	2	1	1	1	1	3	2	2	2	3	2	3	5	3	2	0	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:26084290C>T	ENST00000313735.6	-	27	3677	c.3444G>A	c.(3442-3444)ctG>ctA	p.L1148L		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	1148					arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)	CTGACATCTCCAGGCTGCTGG	0.547											OREG0024267	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	26084290	C	T	26084290	2	4	787	1	0	0	0	0	0	0	0	1	10619	581	21	2		2	NOS2	17	26084290	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	14417456	26084290	55110920	58	58104											
GNA13	10672	broad.mit.edu	37	chr17	63049735	63049735	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tttccaccattccttgggctGccatgggggcccgggtatca	5	11	12	13	1	1	0	1	0	0	0	3	0	3	0	5	4	1	2	5	4	1	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr17:63049735G>A	ENST00000439174.2	-	2	640	c.395C>T	c.(394-396)gCa>gTa	p.A132V	GNA13_ENST00000541118.1_Missense_Mutation_p.A37V	NM_006572.4	NP_006563.2	Q14344	GNA13_HUMAN	guanine nucleotide binding protein (G protein), alpha 13	132					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase D activity|cellular component movement|platelet activation|Rho protein signal transduction	brush border membrane|heterotrimeric G-protein complex|melanosome	D5 dopamine receptor binding|G-protein beta/gamma-subunit complex binding|GTP binding|GTPase activity|signal transducer activity|type 1 angiotensin receptor binding			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(14)|kidney(2)|large_intestine(4)|lung(6)|urinary_tract(1)	34						TCCTTGGGCTGCCATGGGGGC	0.488													A	63049735	G	A	63049735	3	1	787	1	0	0	0	0	1	0	0	0	6557	1319	46	2	750	2	GNA13	17	63049735	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	36965445	63049735	18145475	59	58105											
COLEC12	81035	broad.mit.edu	37	chr18	346800	346800	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tcgttgttggctttggccaaCgcagagttgttggcagccag	6	12	14	9	2	0	1	0	0	0	1	1	1	0	1	2	3	2	7	2	3	1	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:346800C>T	ENST00000400256.3	-	5	1029	c.822G>A	c.(820-822)gcG>gcA	p.A274A		NM_130386.2	NP_569057	Q5KU26	COL12_HUMAN	collectin sub-family member 12	274					carbohydrate mediated signaling|innate immune response|phagocytosis, recognition|protein homooligomerization	collagen|integral to membrane	galactose binding|low-density lipoprotein particle binding|metal ion binding|pattern recognition receptor activity|scavenger receptor activity			cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	46		all_cancers(4;0.0442)|Myeloproliferative disorder(11;0.0426)				CTTTGGCCAACGCAGAGTTGT	0.502													T	346800	C	T	346800	2	4	787	1	0	0	0	0	0	0	0	1	3743	523	19	1		1	COLEC12	18	346800	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08		346800	77730448	60	58106											
TUBB6	84617	broad.mit.edu	37	chr18	12325299	12325299	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tgaacaccttcagcgtcatgCcctcgcccaaggtgtcggac	8	8	10	15	3	2	1	2	1	0	0	4	2	2	2	3	2	3	0	3	2	2	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:12325299C>T	ENST00000317702.5	+	4	745	c.511C>T	c.(511-513)Ccc>Tcc	p.P171S	TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	171					'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CAGCGTCATGCCCTCGCCCAA	0.617													T	12325299	C	T	12325299	3	4	787	1	0	0	0	0	1	0	0	0	16862	739	26	2	525	2	TUBB6	18	12325299	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	11978499	12325299	65751949	61	58107											
ZNF521	25925	broad.mit.edu	37	chr18	22807028	22807028	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ctacgaagagctcgtggcagTagacacactggagggccgct	10	6	14	11	3	0	2	0	0	0	2	1	4	0	3	1	3	2	4	1	3	3	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr18:22807028T>C	ENST00000361524.3	-	4	1002	c.854A>G	c.(853-855)tAc>tGc	p.Y285C	ZNF521_ENST00000584787.1_Missense_Mutation_p.Y65C|ZNF521_ENST00000538137.2_Missense_Mutation_p.Y285C	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	285					cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein domain specific binding|zinc ion binding			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CTCGTGGCAGTAGACACACTG	0.547			T	PAX5	ALL								C	22807028	T	C	22807028	3	2	787	1	0	0	0	0	1	0	0	0	18066	1638	57	3	3101	3	ZNF521	18	22807028	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	10481729	22807028	55270220	62	58108											
S1PR4	8698	broad.mit.edu	37	chr19	3179742	3179742	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagggaggtgtgcagagccGtgctcagcttcctctgctgc	5	9	15	12	1	2	1	1	0	1	1	3	2	3	2	2	2	6	5	2	2	0	1	rs145561195	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:3179742G>A	ENST00000246115.3	+	1	1007	c.952G>A	c.(952-954)Gtg>Atg	p.V318M		NM_003775.3	NP_003766.1	O95977	S1PR4_HUMAN	sphingosine-1-phosphate receptor 4	318					activation of phospholipase C activity|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	lipid binding|lysosphingolipid and lysophosphatidic acid receptor activity	p.V318M(2)		breast(1)|kidney(2)|lung(5)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	13						GTGCAGAGCCGTGCTCAGCTT	0.687													A	3179742	G	A	3179742	3	1	787	1	0	0	0	0	1	0	0	0	13887	1145	40	1	954	1	S1PR4	19	3179742	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		3179742	55949241	63	58109											
ZNF90	7643	broad.mit.edu	37	chr19	20229690	20229690	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gctcctcagcccttagcacaCataagataattcatagtgga	13	10	7	11	0	2	1	2	0	0	1	3	2	3	2	2	1	2	2	2	1	4	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:20229690C>A	ENST00000418063.2	+	4	1439	c.1327C>A	c.(1327-1329)Cat>Aat	p.H443N	ZNF90_ENST00000474284.1_Intron	NM_007138.1	NP_009069.1	Q03938	ZNF90_HUMAN	zinc finger protein 90	443						Golgi apparatus|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|lung(2)|ovary(1)|skin(1)	5						CCTTAGCACACATAAGATAAT	0.388													A	20229690	C	A	20229690	3	1	787	1	0	0	0	0	1	0	0	0	18298	478	17	4	1341	4	ZNF90	19	20229690	Missense_Mutation	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	17049948	20229690	38899293	64	58110											
MYBPC2	4606	broad.mit.edu	37	chr19	50939061	50939061	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgaggaccagtccccgacTgcagaggagcccaccggcgt	8	3	13	17	4	0	1	0	0	0	1	1	5	1	3	6	3	2	1	6	3	0	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr19:50939061T>C	ENST00000357701.5	+	3	189	c.138T>C	c.(136-138)acT>acC	p.T46T		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	46					cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		AGTCCCCGACTGCAGAGGAGC	0.662													C	50939061	T	C	50939061	2	2	787	1	0	0	0	0	0	0	0	1	10088	1567	55	3		3	MYBPC2	19	50939061	Silent	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08	30709371	50939061	8189922	65	58111											
CHRNA4	1137	broad.mit.edu	37	chr20	61981649	61981649	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catcttatgcatggactcgaTgagccgccggcaattgtcct	8	11	10	12	3	1	1	0	1	1	0	3	3	2	2	3	2	2	2	3	2	2	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr20:61981649T>C	ENST00000370263.4	-	5	1335	c.1114A>G	c.(1114-1116)Atc>Gtc	p.I372V	CHRNA4_ENST00000463705.1_5'UTR	NM_000744.6|NM_001256573.1	NP_000735.1|NP_001243502.1	P43681	ACHA4_HUMAN	cholinergic receptor, nicotinic, alpha 4 (neuronal)	372					B cell activation|behavioral response to nicotine|calcium ion transport|cognition|DNA repair|membrane depolarization|regulation of action potential|regulation of dopamine secretion|regulation of inhibitory postsynaptic membrane potential|response to hypoxia|response to oxidative stress|sensory perception of pain|synaptic transmission, cholinergic	cell junction|dendrite|external side of plasma membrane|membrane fraction|neuronal cell body|nicotinic acetylcholine-gated receptor-channel complex|postsynaptic membrane	acetylcholine receptor activity|nicotinic acetylcholine-activated cation-selective channel activity			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(19)|prostate(3)|skin(3)|soft_tissue(1)	33	all_cancers(38;1.71e-10)				Nicotine(DB00184)|Varenicline(DB01273)	ATGGACTCGATGAGCCGCCGG	0.672													C	61981649	T	C	61981649	3	2	787	1	0	0	0	0	1	0	0	0	3415	1464	51	3	777	3	CHRNA4	20	61981649	Missense_Mutation	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		61981649	1043871	66	58112											
BAGE2	85319	broad.mit.edu	37	chr21	11039052	11039052	+	RNA	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagtcatttcagagtccaTcaatccagtagaaagttcag	14	10	9	8	0	4	2	4	0	0	2	6	3	6	3	2	1	0	2	2	1	3	3			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:11039052T>A	ENST00000470054.1	-	0	1151									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCAGAGTCCATCAATCCAGTA	0.383													A	11039052	T	A	11039052	1	1	787	0	1	0	0	0	0	0	0	0	1297	1450	50	5		5	BAGE2	21	11039052	RNA	SNP	T	TCGA-VW-A8FI-01A-11D-A36O-08		11039052	37090843	67	58113											
NRIP1	8204	broad.mit.edu	37	chr21	16339588	16339588	+	Frame_Shift_Del	DEL	T	T	-																															ggtaactgccaacatccttcTggccattttcttgcaatctg																										TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:16339588delT	ENST00000400202.1	-	3	1638	c.926delA	c.(925-927)cagfs	p.Q309fs	NRIP1_ENST00000400199.1_Frame_Shift_Del_p.Q309fs|NRIP1_ENST00000318948.4_Frame_Shift_Del_p.Q309fs			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	309	Repression domain 1.				androgen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent		androgen receptor binding|estrogen receptor binding|glucocorticoid receptor binding|transcription coactivator activity|transcription corepressor activity			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		AACATCCTTCTGGCCATTTTC	0.433													-	16339588	T	-	16339588	7	5	787	1	0	1	0	1	0	0	0	0	10728	1580	55	0	2554	0	NRIP1	21	16339588	Frame_Shift_Del	DEL	T	TCGA-VW-A8FI-01A-11D-A36O-08	5300536	16339588	31790307	68	58114											
KRTAP11-1	337880	broad.mit.edu	37	chr21	32253792	32253792	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggccactggaacaatgcagcGtcctccaatgggcctggaag	10	6	13	12	1	0	0	0	0	0	0	2	2	2	2	4	4	3	1	4	4	4	0			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:32253792G>A	ENST00000332378.4	-	1	82	c.52C>T	c.(52-54)Cgc>Tgc	p.R18C		NM_175858.2	NP_787054.1	Q8IUC1	KR111_HUMAN	keratin associated protein 11-1	18						keratin filament	structural molecule activity			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|pancreas(1)	18						ACAATGCAGCGTCCTCCAATG	0.542													A	32253792	G	A	32253792	3	1	787	1	0	0	0	0	1	0	0	0	8575	1145	40	1	443	1	KRTAP11-1	21	32253792	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	15914204	32253792	15876103	69	58115											
NDUFV3	4731	broad.mit.edu	37	chr21	44323624	44323624	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	attctgaatctgatgatgagGctgacgtttcagaggtcact	10	13	11	7	1	4	6	2	5	2	1	4	6	4	6	0	2	0	2	0	2	1	2			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr21:44323624G>C	ENST00000354250.2	+	3	571	c.502G>C	c.(502-504)Gct>Cct	p.A168P	NDUFV3_ENST00000340344.4_Intron|NDUFV3_ENST00000460259.1_3'UTR	NM_021075.3	NP_066553.3	P56181	NDUV3_HUMAN	NADH dehydrogenase (ubiquinone) flavoprotein 3, 10kDa	0					mitochondrial electron transport, NADH to ubiquinone|transport	mitochondrial respiratory chain complex I|nucleus	NADH dehydrogenase (ubiquinone) activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|skin(1)	10				STAD - Stomach adenocarcinoma(101;0.0606)	NADH(DB00157)	TGATGATGAGGCTGACGTTTC	0.542													C	44323624	G	C	44323624	3	2	787	1	0	0	0	0	1	0	0	0	10377	1203	42	4	512	4	NDUFV3	21	44323624	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08	12069832	44323624	3806271	70	58116											
CBX6	23466	broad.mit.edu	37	chr22	39262562	39262562	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggatgggctcacggtctcGgggaggagcttggggggcgt	4	7	22	8	4	2	0	1	0	1	0	3	3	2	3	0	9	1	2	0	9	0	1			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chr22:39262562G>A	ENST00000407418.3	-	5	1014	c.891C>T	c.(889-891)ccC>ccT	p.P297P	CBX6_ENST00000216083.6_Silent_p.P279P			O95503	CBX6_HUMAN	chromobox homolog 6	297					chromatin modification|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	PcG protein complex				large_intestine(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6	Melanoma(58;0.04)					TCACGGTCTCGGGGAGGAGCT	0.741													A	39262562	G	A	39262562	2	1	787	1	0	0	0	0	0	0	0	1	2748	1103	39	1		1	CBX6	22	39262562	Silent	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		39262562	12042004	71	58117											
MAGEB6	158809	broad.mit.edu	37	chrX	26212102	26212102	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cttcctcatcctcttctcgcGcttgtctgggtgattgtcgt	2	17	9	13	3	4	1	1	1	3	0	8	1	6	1	2	1	0	1	2	1	0	4			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:26212102G>A	ENST00000379034.1	+	2	288	c.139G>A	c.(139-141)Gct>Act	p.A47T		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	47	Ser-rich.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CTCTTCTCGCGCTTGTCTGGG	0.552													A	26212102	G	A	26212102	3	1	787	1	0	0	0	0	1	0	0	0	9254	1087	38	1	141	1	MAGEB6	23	26212102	Missense_Mutation	SNP	G	TCGA-VW-A8FI-01A-11D-A36O-08		26212102	129058458	72	58118											
FAM47C	442444	broad.mit.edu	37	chrX	37026705	37026705	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acgcttgtttgtcgccgtgaCgagtttttactccccaaaat	8	14	8	11	4	0	1	0	1	0	0	2	2	1	1	3	0	1	3	3	0	3	5	rs149618786	byFrequency	TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:37026705C>T	ENST00000358047.3	+	1	274	c.222C>T	c.(220-222)gaC>gaT	p.D74D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	74								p.D74D(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GTCGCCGTGACGAGTTTTTAC	0.527													T	37026705	C	T	37026705	2	4	787	1	0	0	0	0	0	0	0	1	5622	535	19	1		1	FAM47C	23	37026705	Silent	SNP	C	TCGA-VW-A8FI-01A-11D-A36O-08	10814603	37026705	118243855	73	58119											
ELK1	2002	broad.mit.edu	37	chrX	47500629	47500629	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gccctggtctgagagactgtAccttgtcatagtagtaccgc	8	11	11	11	1	2	2	1	1	1	1	2	3	2	2	3	1	2	3	3	1	4	5			TCGA-VW-A8FI-01A-11D-A36O-08	TCGA-VW-A8FI-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	7ce8e8b8-3c67-44ff-8bbc-1dc2394a7d8c	76fff6dc-2183-4f4b-ac59-8c3ec6b5b90a	g.chrX:47500629A>G	ENST00000247161.3	-	2	310		c.e2+1		ELK1_ENST00000376983.3_Splice_Site|ELK1_ENST00000592066.1_Splice_Site|ELK1_ENST00000343894.4_Splice_Site	NM_005229.4	NP_005220.2	P19419	ELK1_HUMAN	ELK1, member of ETS oncogene family						innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|stress-activated MAPK cascade|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		protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|skin(2)	10						GAGAGACTGTACCTTGTCATA	0.478													G	47500629	A	G	47500629	5	3	787	1	0	0	0	0	0	0	1	0	5100	405	14	3	1094	3	ELK1	23	47500629	Splice_Site	SNP	A	TCGA-VW-A8FI-01A-11D-A36O-08	10473924	47500629	107769931	74	58120											
NRAS	4893	broad.mit.edu	37	chr1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcatggcactgtactcttctTgtccagctgtatccagtatg	7	15	8	11	0	3	0	1	0	2	0	5	0	5	0	2	1	2	5	2	1	3	5	rs11554290		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).		activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"melanoma, MM, AML, thyroid"				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)			C	115256529	T	C	115256529	3	2	788	1	0	0	0	0	1	0	0	0	10716	1812	63	3	399	3	NRAS	1	115256529	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		115256529	133994092	1	58121											
OBSCN	84033	broad.mit.edu	37	chr1	228481238	228481238	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggtgtgagctgcagatccgCggcctcgtggcagaggacgc	7	6	17	11	4	0	3	0	1	0	2	2	4	1	4	2	4	2	3	2	4	0	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:228481238C>T	ENST00000570156.2	+	46	12413	c.12339C>T	c.(12337-12339)cgC>cgT	p.R4113R	OBSCN_ENST00000366707.4_Silent_p.R803R|OBSCN_ENST00000359599.6_Silent_p.R2531R|OBSCN_ENST00000284548.11_Silent_p.R3684R|OBSCN_ENST00000366709.4_Silent_p.R803R|OBSCN_ENST00000422127.1_Silent_p.R3684R	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	3155	Ig-like 42.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				TGCAGATCCGCGGCCTCGTGG	0.637													T	228481238	C	T	228481238	2	4	788	1	0	0	0	0	0	0	0	1	10888	755	27	1		1	OBSCN	1	228481238	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	113224709	228481238	20769383	2	58122											
OR2W3	343171	broad.mit.edu	37	chr1	248059036	248059036	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccaccatcatcctggtgtccCggctggacccccacctccac	6	7	7	21	1	1	0	1	0	0	0	4	1	4	1	8	3	0	1	8	3	0	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr1:248059036C>T	ENST00000537741.1	+	3	405	c.148C>T	c.(148-150)Cgg>Tgg	p.R50W	OR2W3_ENST00000360358.3_Missense_Mutation_p.R50W			Q7Z3T1	OR2W3_HUMAN	olfactory receptor, family 2, subfamily W, member 3	50					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|kidney(2)|large_intestine(2)|lung(33)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)	49	all_cancers(71;0.000139)|all_epithelial(71;1.58e-05)|Breast(184;0.0117)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0319)			CCTGGTGTCCCGGCTGGACCC	0.587													T	248059036	C	T	248059036	3	4	788	1	0	0	0	0	1	0	0	0	11109	643	23	1	150	1	OR2W3	1	248059036	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	19577798	248059036	1191585	3	58123											
MAP4K3	8491	broad.mit.edu	37	chr2	39499514	39499514	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aatcaaaaagccctggtaaaTtatgggaataaagctgagaa	19	8	9	5	0	1	1	1	1	0	1	1	3	1	2	1	2	2	2	1	2	10	3			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:39499514T>C	ENST00000263881.3	-	26	2207	c.1883A>G	c.(1882-1884)aAt>aGt	p.N628S	MAP4K3_ENST00000341681.5_Missense_Mutation_p.N607S|MAP4K3_ENST00000437545.1_Missense_Mutation_p.N544S|MAP4K3_ENST00000536018.1_Missense_Mutation_p.N181S	NM_003618.3	NP_003609.2	Q8IVH8	M4K3_HUMAN	mitogen-activated protein kinase kinase kinase kinase 3	628	CNH.				JNK cascade		ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_hematologic(82;0.211)				CCCTGGTAAATTATGGGAATA	0.328													C	39499514	T	C	39499514	3	2	788	1	0	0	0	0	1	0	0	0	9336	1493	52	3	837	3	MAP4K3	2	39499514	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		39499514	203699859	4	58124											
DBI	1622	broad.mit.edu	37	chr2	120128319	120128319	+	Frame_Shift_Del	DEL	G	G	-																															ttcttcccttgtttaagaacGgcccgggatgttggacttca																										TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:120128319delG	ENST00000542275.1	+	3	398	c.314delG	c.(313-315)cggfs	p.R105fs	DBI_ENST00000355857.3_Frame_Shift_Del_p.R44fs|DBI_ENST00000393103.2_Frame_Shift_Del_p.R45fs|DBI_ENST00000409094.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000535617.1_Frame_Shift_Del_p.R86fs|DBI_ENST00000535757.1_Frame_Shift_Del_p.R61fs|DBI_ENST00000311521.4_Frame_Shift_Del_p.R61fs|DBI_ENST00000460901.1_3'UTR	NM_001178017.1	NP_001171488.1	P07108	ACBP_HUMAN	diazepam binding inhibitor (GABA receptor modulator, acyl-CoA binding protein)	44					transport		benzodiazepine receptor binding|fatty-acyl-CoA binding			kidney(1)|lung(4)|skin(1)	6						GTTTAAGAACGGCCCGGGATG	0.428													-	120128319	G	-	120128319	7	5	788	1	0	1	0	1	0	0	0	0	4285	1116	39	0	447	0	DBI	2	120128319	Frame_Shift_Del	DEL	G	TCGA-W9-A837-01A-11D-A36O-08	80628805	120128319	123071054	5	58125											
LCT	3938	broad.mit.edu	37	chr2	136594247	136594247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggtgaaccagatcccaactaGgtccccgaaggagtggaagg	12	5	14	10	1	0	2	0	1	0	1	2	5	2	4	4	5	2	0	4	5	5	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:136594247G>A	ENST00000264162.2	-	1	503	c.493C>T	c.(493-495)Cta>Tta	p.L165L		NM_002299.2	NP_002290.2	P09848	LPH_HUMAN	lactase	165	4 X approximate repeats.				carbohydrate metabolic process|polysaccharide digestion	apical plasma membrane|integral to plasma membrane|membrane fraction	cation binding|glycosylceramidase activity|lactase activity			breast(6)|central_nervous_system(3)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(26)|lung(57)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(4)	124				BRCA - Breast invasive adenocarcinoma(221;0.169)		ATCCCAACTAGGTCCCCGAAG	0.577													A	136594247	G	A	136594247	2	1	788	1	0	0	0	0	0	0	0	1	8752	991	35	2		2	LCT	2	136594247	Silent	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	16465928	136594247	106605126	6	58126											
SCN3A	6328	broad.mit.edu	37	chr2	166010994	166010994	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgttgctttttaagctgttCgagcatctgctgaaattcgg	7	16	10	8	2	1	1	0	1	1	0	3	2	1	1	0	1	4	6	0	1	2	6			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:166010994C>T	ENST00000360093.3	-	11	1839	c.1348G>A	c.(1348-1350)Gaa>Aaa	p.E450K	SCN3A_ENST00000283254.7_Missense_Mutation_p.E450K|SCN3A_ENST00000409101.3_Missense_Mutation_p.E450K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	450						voltage-gated sodium channel complex	voltage-gated sodium channel activity	p.E450K(1)		NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lamotrigine(DB00555)	TTAAGCTGTTCGAGCATCTGC	0.403													T	166010994	C	T	166010994	3	4	788	1	0	0	0	0	1	0	0	0	14011	893	31	1	4726	1	SCN3A	2	166010994	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	29416747	166010994	77188379	7	58127											
ZDBF2	57683	broad.mit.edu	37	chr2	207171695	207171695	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgtttatgaggaagaaactGttgatctggaaagtaaaagt	15	12	11	3	0	1	3	0	2	1	1	1	5	1	5	0	2	1	3	0	2	6	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr2:207171695G>A	ENST00000374423.3	+	5	2829	c.2443G>A	c.(2443-2445)Gtt>Att	p.V815I		NM_020923.1	NP_065974.1	Q9HCK1	ZDBF2_HUMAN	zinc finger, DBF-type containing 2	815							nucleic acid binding|zinc ion binding			endometrium(4)|kidney(5)|large_intestine(28)|lung(50)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						GGAAGAAACTGTTGATCTGGA	0.348													A	207171695	G	A	207171695	3	1	788	1	0	0	0	0	1	0	0	0	17700	1377	48	2	2453	2	ZDBF2	2	207171695	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	41160701	207171695	36027678	8	58128											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	788	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	1941417	209113112	34086261	9	58129											
KLHDC8B	200942	broad.mit.edu	37	chr3	49210376	49210376	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctggacatggcctcgcacacAtggctggcactggcacccct	7	7	11	16	1	0	0	0	0	0	0	1	1	0	1	3	5	0	4	3	5	0	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:49210376A>G	ENST00000332780.2	+	2	383	c.174A>G	c.(172-174)acA>acG	p.T58T	KLHDC8B_ENST00000476495.2_3'UTR	NM_173546.2	NP_775817.1	Q8IXV7	KLD8B_HUMAN	kelch domain containing 8B	58						cytoplasm				endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|skin(1)|stomach(1)	7				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.00217)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		CCTCGCACACATGGCTGGCAC	0.652													G	49210376	A	G	49210376	2	3	788	1	0	0	0	0	0	0	0	1	8421	204	8	3		3	KLHDC8B	3	49210376	Silent	SNP	A	TCGA-W9-A837-01A-11D-A36O-08		49210376	148812054	10	58130											
ALDH1L1	10840	broad.mit.edu	37	chr3	125831672	125831672	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggagtcctccacaaagagtcGgcctgctgcaatgcaattct	10	9	10	12	1	1	1	0	0	1	1	4	2	3	2	3	2	3	3	3	2	3	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr3:125831672G>A	ENST00000393434.2	-	19	2483	c.2134C>T	c.(2134-2136)Cga>Tga	p.R712*	ALDH1L1_ENST00000273450.3_Nonsense_Mutation_p.R722*|ALDH1L1_ENST00000393431.2_3'UTR|ALDH1L1_ENST00000452905.2_Nonsense_Mutation_p.R611*|ALDH1L1_ENST00000472186.1_Nonsense_Mutation_p.R712*	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	712	Aldehyde dehydrogenase.				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	ACAAAGAGTCGGCCTGCTGCA	0.557													A	125831672	G	A	125831672	4	1	788	1	0	0	0	0	0	1	0	0	494	1124	39	1	594	1	ALDH1L1	3	125831672	Nonsense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	76621296	125831672	72190758	11	58131											
NIPBL	25836	broad.mit.edu	37	chr5	36972046	36972046	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aattgtatactctatttttaGgatggagattcttcaacaat	13	17	6	5	0	3	1	1	0	2	1	3	3	3	2	0	2	2	1	0	2	7	9			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36972046G>A	ENST00000282516.8	+	8	1270		c.e8-1		NIPBL_ENST00000448238.2_Splice_Site|NIPBL_ENST00000504430.1_Splice_Site	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)						brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TCTATTTTTAGGATGGAGATT	0.378													A	36972046	G	A	36972046	5	1	788	1	0	0	0	0	0	0	1	0	10504	1014	35	2	797	2	NIPBL	5	36972046	Splice_Site	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		36972046	143943214	12	58132											
NIPBL	25836	broad.mit.edu	37	chr5	36985023	36985023	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	atgatgcacctgtttctgttCttcaggaagatattgttgga	9	16	10	6	0	3	2	1	1	2	1	3	4	3	4	1	2	1	4	1	2	2	6			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:36985023C>T	ENST00000282516.8	+	10	2240	c.1741C>T	c.(1741-1743)Ctt>Ttt	p.L581F	NIPBL_ENST00000448238.2_Missense_Mutation_p.L581F|NIPBL_ENST00000504430.1_3'UTR	NM_015384.4|NM_133433.3	NP_056199.2|NP_597677.2	Q6KC79	NIPBL_HUMAN	Nipped-B homolog (Drosophila)	581					brain development|cellular protein localization|cellular response to X-ray|cognition|developmental growth|ear morphogenesis|embryonic arm morphogenesis|embryonic digestive tract morphogenesis|external genitalia morphogenesis|eye morphogenesis|face morphogenesis|gall bladder development|maintenance of mitotic sister chromatid cohesion|metanephros development|negative regulation of transcription from RNA polymerase II promoter|outflow tract morphogenesis|positive regulation of histone deacetylation|regulation of developmental growth|regulation of embryonic development|regulation of hair cycle|response to DNA damage stimulus|sensory perception of sound|uterus morphogenesis	SMC loading complex	chromo shadow domain binding|histone deacetylase binding|protein C-terminus binding|protein N-terminus binding			autonomic_ganglia(1)|breast(4)|endometrium(9)|kidney(22)|large_intestine(21)|liver(1)|lung(47)|ovary(7)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	128	all_lung(31;0.000447)|Hepatocellular(1;0.108)		Epithelial(62;0.072)|COAD - Colon adenocarcinoma(61;0.14)|all cancers(62;0.191)|Colorectal(62;0.202)			TGTTTCTGTTCTTCAGGAAGA	0.388													T	36985023	C	T	36985023	3	4	788	1	0	0	0	0	1	0	0	0	10504	913	32	2	1775	2	NIPBL	5	36985023	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	12977	36985023	143930237	13	58133											
UTP15	84135	broad.mit.edu	37	chr5	72866466	72866466	+	Silent	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgaacgagtgagagtgttctCtccgttgagcatgggcagcc	8	9	14	10	3	1	2	0	2	1	1	3	5	2	2	2	1	3	4	2	1	1	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:72866466C>G	ENST00000296792.4	+	6	858	c.603C>G	c.(601-603)ctC>ctG	p.L201L	UTP15_ENST00000508491.1_Silent_p.L182L|UTP15_ENST00000543251.1_Silent_p.L11L	NM_001284431.1|NM_032175.2	NP_001271360.1|NP_115551.2	Q8TED0	UTP15_HUMAN	UTP15, U3 small nucleolar ribonucleoprotein, homolog (S. cerevisiae)	201					rRNA processing	cytoplasm|nucleolus				endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|skin(2)	15		Lung NSC(167;0.00405)|Ovarian(174;0.0129)		OV - Ovarian serous cystadenocarcinoma(47;7.76e-55)		AGAGTGTTCTCTCCGTTGAGC	0.398													G	72866466	C	G	72866466	2	3	788	1	0	0	0	0	0	0	0	1	17199	900	32	4		4	UTP15	5	72866466	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	35881443	72866466	108048794	14	58134											
TGFBI	7045	broad.mit.edu	37	chr5	135390519	135390519	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	gaccctggaaactctgggcgGcaaaaaactgagagtttttg	12	9	12	8	1	1	1	0	1	1	1	1	4	1	2	1	3	2	2	1	3	4	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:135390519G>A	ENST00000442011.2	+	10	1540	c.1379G>A	c.(1378-1380)gGc>gAc	p.G460D	TGFBI_ENST00000305126.8_Missense_Mutation_p.G460D	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	460	FAS1 3.				angiogenesis|cell adhesion|cell proliferation|negative regulation of cell adhesion|response to stimulus|visual perception	extracellular space|proteinaceous extracellular matrix	integrin binding	p.G460D(1)		breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			ACTCTGGGCGGCAAAAAACTG	0.423													A	135390519	G	A	135390519	3	1	788	1	0	0	0	0	1	0	0	0	15920	1203	42	2	1417	2	TGFBI	5	135390519	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	62524053	135390519	45524741	15	58135											
FAT2	2196	broad.mit.edu	37	chr5	150932752	150932752	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctcacctgagatgttgaacCagaagagtccgggtctgccc	9	8	11	13	1	2	4	1	2	1	3	3	5	3	4	5	1	2	1	5	1	2	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:150932752C>G	ENST00000261800.5	-	5	4154	c.4142G>C	c.(4141-4143)tGg>tCg	p.W1381S		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	1381	Cadherin 12.				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GATGTTGAACCAGAAGAGTCC	0.552													G	150932752	C	G	150932752	3	3	788	1	0	0	0	0	1	0	0	0	5739	595	21	4	8983	4	FAT2	5	150932752	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	15542233	150932752	29982508	16	58136											
CPEB4	80315	broad.mit.edu	37	chr5	173380262	173380265	+	Frame_Shift_Del	DEL	AGAT	AGAT	-																															tgttcagctgcagcatggagAgatagataaacgggtaagcc																										TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr5:173380262_173380265delAGAT	ENST00000265085.5	+	9	3403_3406	c.1949_1952delAGAT	c.(1948-1953)gagatafs	p.EI650fs	CPEB4_ENST00000334035.5_Frame_Shift_Del_p.EI633fs|CPEB4_ENST00000519835.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000522336.1_Frame_Shift_Del_p.EI260fs|CPEB4_ENST00000520867.1_Frame_Shift_Del_p.EI625fs|CPEB4_ENST00000517880.1_Frame_Shift_Del_p.EI243fs|CPEB4_ENST00000519467.1_3'UTR	NM_030627.2	NP_085130.2	Q17RY0	CPEB4_HUMAN	cytoplasmic polyadenylation element binding protein 4	650	RRM 2.						nucleotide binding|RNA binding			NS(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(5)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	20	Renal(175;0.000159)|Lung NSC(126;0.0128)|all_lung(126;0.0202)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000183)			CAGCATGGAGAGATAGATAAACGG	0.402													-	173380265	AGAT	-	173380262	7	5	788	1	0	1	0	1	0	0	0	0	3834	304	11	0	1983	0	CPEB4	5	173380262	Frame_Shift_Del	DEL	AGAT	TCGA-W9-A837-01A-11D-A36O-08	22447510	173380262	7534998	17	58137											
SLC39A7	7922	broad.mit.edu	37	chr6	33169301	33169301	+	Frame_Shift_Del	DEL	C	C	-																															gatttacaccatggccatagCcatggctactcccatgagag																										TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:33169301delC	ENST00000374677.3	+	1	652	c.279delC	c.(277-279)agcfs	p.S93fs	SLC39A7_ENST00000374675.3_Frame_Shift_Del_p.S93fs	NM_006979.2	NP_008910.2	Q92504	S39A7_HUMAN	solute carrier family 39 (zinc transporter), member 7	93	His-rich.					endoplasmic reticulum membrane|integral to membrane|membrane fraction	protein binding|zinc ion transmembrane transporter activity			NS(1)|breast(3)|endometrium(2)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	18						ATGGCCATAGCCATGGCTACT	0.552													-	33169301	C	-	33169301	7	5	788	1	0	1	0	1	0	0	0	0	14717	738	26	0	281	0	SLC39A7	6	33169301	Frame_Shift_Del	DEL	C	TCGA-W9-A837-01A-11D-A36O-08		33169301	137945766	18	58138											
LAMA4	3910	broad.mit.edu	37	chr6	112496653	112496653	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	1	0	1	0	0	0	ggggctaagttcatgctcttCcccataatagagcatcttgt	9	13	9	10	0	3	1	1	0	2	1	4	1	4	1	2	2	2	4	2	2	3	6			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr6:112496653C>T	ENST00000230538.7	-	11	1616	c.1219G>A	c.(1219-1221)Gaa>Aaa	p.E407K	LAMA4_ENST00000389463.4_Missense_Mutation_p.E400K|LAMA4_ENST00000424408.2_Missense_Mutation_p.E400K|LAMA4_ENST00000522006.1_Missense_Mutation_p.E400K	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	407	Domain II and I.				cell adhesion|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	extracellular matrix structural constituent|receptor binding			NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TCATGCTCTTCCCCATAATAG	0.468													T	112496653	C	T	112496653	3	4	788	1	0	0	0	0	1	0	0	0	8667	864	30	2	4368	2	LAMA4	6	112496653	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	79327352	112496653	58618414	19	58139											
SAMD9L	219285	broad.mit.edu	37	chr7	92763468	92763468	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttaaagtggaaatactgtggTttgttagttcatcttccatc	10	17	8	6	0	2	0	1	0	1	0	4	1	3	1	1	2	1	3	1	2	5	6			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:92763468T>C	ENST00000318238.4	-	5	3033	c.1817A>G	c.(1816-1818)aAc>aGc	p.N606S	SAMD9L_ENST00000411955.1_Missense_Mutation_p.N606S|SAMD9L_ENST00000437805.1_Missense_Mutation_p.N606S	NM_152703.2	NP_689916.2	Q8IVG5	SAM9L_HUMAN	sterile alpha motif domain containing 9-like	606										central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(23)|liver(2)|lung(31)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	88	all_cancers(62;4.15e-11)|all_epithelial(64;2.29e-10)|Breast(17;0.000675)|Lung NSC(181;0.0755)|all_lung(186;0.0989)		STAD - Stomach adenocarcinoma(171;0.000302)			AATACTGTGGTTTGTTAGTTC	0.368													C	92763468	T	C	92763468	3	2	788	1	0	0	0	0	1	0	0	0	13918	1725	60	3	2941	3	SAMD9L	7	92763468	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		92763468	66375195	20	58140											
SLC26A4	5172	broad.mit.edu	37	chr7	107350576	107350576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acacattctttttgacggtcCatgatgctatactctatcta	10	16	5	10	1	3	2	0	2	3	0	4	2	4	2	1	1	2	1	1	1	4	7			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:107350576C>A	ENST00000265715.3	+	19	2391	c.2167C>A	c.(2167-2169)Cat>Aat	p.H723N	SLC26A4_ENST00000543100.1_Missense_Mutation_p.H292N|SLC26A4_ENST00000541474.1_Missense_Mutation_p.H284N|SLC26A4_ENST00000544569.1_Missense_Mutation_p.H310N	NM_000441.1	NP_000432.1	O43511	S26A4_HUMAN	solute carrier family 26 (anion exchanger), member 4	723	STAS.		H -> R (in DFNB4 and PDS; common mutation in Korea and Japan).		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						TTTGACGGTCCATGATGCTAT	0.368									Pendred syndrome				A	107350576	C	A	107350576	3	1	788	1	0	0	0	0	1	0	0	0	14613	594	21	4	2237	4	SLC26A4	7	107350576	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	14587108	107350576	51788087	21	58141											
SLC13A4	26266	broad.mit.edu	37	chr7	135378959	135378959	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	tcccttttggtcttcttcttCttgctcagagagcaggtctc	4	17	8	12	0	6	1	1	0	5	1	8	2	7	1	1	2	2	2	1	2	0	6			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr7:135378959C>G	ENST00000354042.4	-	10	1733	c.1044G>C	c.(1042-1044)aaG>aaC	p.K348N		NM_012450.2	NP_036582.2	Q9UKG4	S13A4_HUMAN	solute carrier family 13 (sodium/sulfate symporter), member 4	348						integral to plasma membrane	sodium:sulfate symporter activity			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	24						TCTTCTTCTTCTTGCTCAGAG	0.393													G	135378959	C	G	135378959	3	3	788	1	0	0	0	0	1	0	0	0	14488	912	32	4	864	4	SLC13A4	7	135378959	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	28028383	135378959	23759704	22	58142											
DENND3	22898	broad.mit.edu	37	chr8	142178542	142178542	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aagaagcacatgcagctgggCgacttcatgaagcgggtcca	12	6	13	10	2	1	2	1	1	0	1	2	3	2	2	1	2	4	3	1	2	3	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr8:142178542C>T	ENST00000519811.1	+	13	2263	c.2193C>T	c.(2191-2193)ggC>ggT	p.G731G	DENND3_ENST00000262585.2_Silent_p.G651G|DENND3_ENST00000424248.1_Silent_p.G599G			A2RUS2	DEND3_HUMAN	DENN/MADD domain containing 3	651										breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(19)|ovary(1)|prostate(3)|skin(4)|stomach(2)|urinary_tract(1)	55	all_cancers(97;7.36e-15)|all_epithelial(106;2.33e-13)|Lung NSC(106;1.23e-05)|all_lung(105;1.75e-05)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.105)			TGCAGCTGGGCGACTTCATGA	0.587													T	142178542	C	T	142178542	2	4	788	1	0	0	0	0	0	0	0	1	4471	755	27	1		1	DENND3	8	142178542	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		142178542	4185480	23	58143											
OR56A4	120793	broad.mit.edu	37	chr11	6024219	6024219	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggagtcattgctgggagatgCcatgtaaagtttcctgatca	10	12	12	7	0	2	2	2	1	0	1	3	4	3	3	2	2	2	3	2	2	2	3			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:6024219C>T	ENST00000330728.4	-	1	205	c.160G>A	c.(160-162)Gca>Aca	p.A54T		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	2					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGGAGATGCCATGTAAAGT	0.473													T	6024219	C	T	6024219	3	4	788	1	0	0	0	0	1	0	0	0	11211	739	26	2	939	2	OR56A4	11	6024219	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		6024219	128982297	24	58144											
CAT	847	broad.mit.edu	37	chr11	34473715	34473715	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggtaactgggatctcgttggAaataacacccccattttctt	10	13	8	10	1	2	0	0	0	2	0	3	2	2	2	2	3	2	2	2	3	3	6			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:34473715A>G	ENST00000241052.4	+	4	530	c.441A>G	c.(439-441)ggA>ggG	p.G147G		NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	147					hydrogen peroxide catabolic process|negative regulation of apoptosis|positive regulation of cell division|protein tetramerization|purine base metabolic process|purine nucleotide catabolic process|UV protection	peroxisomal matrix|peroxisomal membrane	catalase activity|heme binding|NADP binding|protein homodimerization activity			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	ATCTCGTTGGAAATAACACCC	0.403													G	34473715	A	G	34473715	2	3	788	1	0	0	0	0	0	0	0	1	2712	233	9	3		3	CAT	11	34473715	Silent	SNP	A	TCGA-W9-A837-01A-11D-A36O-08	28449496	34473715	100532801	25	58145											
RAB3IL1	5866	broad.mit.edu	37	chr11	61675752	61675752	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ggacagctgcaaggggcggcGggaggccctggtctggctgg	5	5	21	10	2	1	0	0	0	1	0	1	2	1	2	1	9	2	3	1	9	1	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:61675752G>T	ENST00000394836.2	-	2	195	c.38C>A	c.(37-39)cCg>cAg	p.P13Q	RAB3IL1_ENST00000301773.5_Missense_Mutation_p.P60Q	NM_013401.2	NP_037533.2	Q8TBN0	R3GEF_HUMAN	RAB3A interacting protein (rabin3)-like 1	13							protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(2)|liver(1)|lung(4)|skin(3)|urinary_tract(1)	14						AAGGGGCGGCGGGAGGCCCTG	0.677													T	61675752	G	T	61675752	3	4	788	1	0	0	0	0	1	0	0	0	13025	1116	39	4	1146	4	RAB3IL1	11	61675752	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	27202037	61675752	73330764	26	58146											
AHNAK	79026	broad.mit.edu	37	chr11	62300247	62300247	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcctgtcaaggttccctctaGgtttggtgtctctatgtcca	5	15	10	11	0	3	0	1	0	2	0	6	0	5	0	3	3	0	2	3	3	3	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr11:62300247G>A	ENST00000378024.4	-	5	1916	c.1642C>T	c.(1642-1644)Cta>Tta	p.L548L	AHNAK_ENST00000530124.1_Intron|AHNAK_ENST00000257247.7_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	548					nervous system development	nucleus	protein binding			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				GTTCCCTCTAGGTTTGGTGTC	0.507													A	62300247	G	A	62300247	2	1	788	1	0	0	0	0	0	0	0	1	414	991	35	2		2	AHNAK	11	62300247	Silent	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	624495	62300247	72706269	27	58147											
KLRC1	3821	broad.mit.edu	37	chr12	10601988	10601988	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acaatggccacaatgacgtgCtaaataaagatatgaattac	18	9	7	7	1	0	3	0	2	0	1	0	3	0	3	1	1	2	1	1	1	9	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:10601988C>A	ENST00000544822.1	-	6	725		c.e6-1		KLRC1_ENST00000359151.3_Splice_Site|KLRC1_ENST00000347831.5_Splice_Site|KLRC1_ENST00000536188.1_Splice_Site|KLRC1_ENST00000408006.3_Splice_Site	NM_213658.2	NP_998823	P26715	NKG2A_HUMAN	killer cell lectin-like receptor subfamily C, member 1						cell surface receptor linked signaling pathway|regulation of immune response	integral to plasma membrane	sugar binding|transmembrane receptor activity			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16						CAATGACGTGCTAAATAAAGA	0.333													A	10601988	C	A	10601988	5	1	788	1	0	0	0	0	0	0	1	0	8473	811	28	4	376	4	KLRC1	12	10601988	Splice_Site	SNP	C	TCGA-W9-A837-01A-11D-A36O-08		10601988	123249907	28	58148											
GPR133	283383	broad.mit.edu	37	chr12	131476803	131476803	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tgcccacagatgcctaccatCccatcataaccaacctgaca	13	7	4	17	0	1	2	1	1	0	1	2	2	2	2	6	0	5	0	6	0	3	2			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr12:131476803C>A	ENST00000261654.5	+	8	1391	c.832C>A	c.(832-834)Ccc>Acc	p.P278T	RP11-76C10.5_ENST00000542980.1_lincRNA|GPR133_ENST00000535015.1_Missense_Mutation_p.P310T	NM_198827.3	NP_942122.2	Q6QNK2	GP133_HUMAN	G protein-coupled receptor 133	278					neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity			NS(2)|breast(2)|endometrium(6)|kidney(1)|large_intestine(12)|lung(20)|ovary(3)|pancreas(6)|prostate(6)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(4)	67	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.68e-06)|all cancers(50;2.71e-06)|Epithelial(86;6.75e-06)		TGCCTACCATCCCATCATAAC	0.403													A	131476803	C	A	131476803	3	1	788	1	0	0	0	0	1	0	0	0	6697	855	30	4	862	4	GPR133	12	131476803	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	120874815	131476803	2375092	29	58149											
SNX6	58533	broad.mit.edu	37	chr14	35074873	35074873	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tctccttcaccaagcttctgTagtttttcccttgaagcatc	7	16	5	13	0	3	1	1	1	2	0	6	1	4	1	3	0	2	4	3	0	3	6			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr14:35074873T>C	ENST00000362031.4	-	5	387	c.357A>G	c.(355-357)ctA>ctG	p.L119L	SNX6_ENST00000396534.3_5'UTR|SNX6_ENST00000355110.5_5'UTR|SNX6_ENST00000396526.3_5'UTR	NM_152233.2	NP_689419.2	Q9UNH7	SNX6_HUMAN	sorting nexin 6	107	PX.				cell communication|intracellular protein transport|negative regulation of epidermal growth factor receptor activity|negative regulation of transcription, DNA-dependent|negative regulation of transforming growth factor beta receptor signaling pathway|retrograde transport, endosome to Golgi	cytoplasmic vesicle membrane|early endosome membrane|nucleus	phosphatidylinositol binding|protein homodimerization activity			endometrium(4)|lung(1)|ovary(1)	6	Breast(36;0.0473)|Hepatocellular(127;0.158)		LUAD - Lung adenocarcinoma(48;0.00169)|Lung(238;0.00199)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.0245)		CAAGCTTCTGTAGTTTTTCCC	0.363													C	35074873	T	C	35074873	2	2	788	1	0	0	0	0	0	0	0	1	15000	1625	57	3		3	SNX6	14	35074873	Silent	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		35074873	72274667	30	58150											
RTF1	23168	broad.mit.edu	37	chr15	41769448	41769448	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaggaacgggcagaggcccTggaccgccagcggaccaaga	11	1	17	12	3	0	2	0	0	0	2	0	6	0	6	4	6	2	1	4	6	2	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr15:41769448T>A	ENST00000389629.4	+	13	1658	c.1646T>A	c.(1645-1647)cTg>cAg	p.L549Q		NM_015138.4	NP_055953.3	Q92541	RTF1_HUMAN	Rtf1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	549					histone modification|regulation of transcription, DNA-dependent|transcription initiation, DNA-dependent	nucleoplasm	protein binding|single-stranded DNA binding			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(1)	18		all_cancers(109;1.79e-19)|all_epithelial(112;8.18e-17)|Lung NSC(122;3.16e-11)|all_lung(180;8.14e-10)|Melanoma(134;0.0179)|Colorectal(260;0.0946)|Ovarian(310;0.143)		OV - Ovarian serous cystadenocarcinoma(18;1.15e-16)|GBM - Glioblastoma multiforme(113;1.81e-06)|BRCA - Breast invasive adenocarcinoma(123;0.119)		GCAGAGGCCCTGGACCGCCAG	0.542													A	41769448	T	A	41769448	3	1	788	1	0	0	0	0	1	0	0	0	13812	1580	55	5	1696	5	RTF1	15	41769448	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		41769448	60761944	31	58151											
TPSD1	23430	broad.mit.edu	37	chr16	1308192	1308192	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgtccgcgatgacatgctgtGtgcggggagcgaaaatcacg	9	7	15	10	6	1	1	1	1	0	0	2	4	2	2	1	2	3	1	1	2	2	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1308192G>A	ENST00000211076.3	+	4	801	c.653G>A	c.(652-654)tGt>tAt	p.C218Y	TPSD1_ENST00000397534.2_Missense_Mutation_p.C211Y	NM_012217.2	NP_036349.1	Q9BZJ3	TRYD_HUMAN	tryptase delta 1	218	Peptidase S1.				proteolysis	extracellular region	serine-type endopeptidase activity			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)	20		Hepatocellular(780;0.00369)				GACATGCTGTGTGCGGGGAGC	0.627													A	1308192	G	A	1308192	3	1	788	1	0	0	0	0	1	0	0	0	16526	1377	48	2	667	2	TPSD1	16	1308192	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		1308192	89046561	32	58152											
TELO2	9894	broad.mit.edu	37	chr16	1545588	1545588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcctgctcggcgaggaggtcGtccgggtgctgcaggcggtt	3	8	19	11	5	0	0	0	0	0	0	3	2	1	1	2	6	3	4	2	6	0	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:1545588G>A	ENST00000262319.6	+	3	856	c.577G>A	c.(577-579)Gtc>Atc	p.V193I		NM_016111.3	NP_057195.2	Q9Y4R8	TELO2_HUMAN	telomere maintenance 2	193						chromosome, telomeric region|cytoplasm|membrane|nucleus	protein binding			NS(1)|endometrium(1)|kidney(5)|lung(9)|ovary(1)|skin(1)|urinary_tract(1)	19		Hepatocellular(780;0.219)				CGAGGAGGTCGTCCGGGTGCT	0.672													A	1545588	G	A	1545588	3	1	788	1	0	0	0	0	1	0	0	0	15857	1145	40	1	583	1	TELO2	16	1545588	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	237396	1545588	88809165	33	58153											
PLEKHG4	25894	broad.mit.edu	37	chr16	67316416	67316416	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	cctacaccaggacggcaatgGacaaggctgacgagctatat	13	6	11	11	2	0	1	0	1	0	0	0	4	0	3	2	4	2	3	2	4	5	3			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr16:67316416G>A	ENST00000360461.5	+	9	3799	c.1264G>A	c.(1264-1266)Gac>Aac	p.D422N	PLEKHG4_ENST00000450733.1_Missense_Mutation_p.D341N|PLEKHG4_ENST00000427155.2_Missense_Mutation_p.D422N|PLEKHG4_ENST00000379344.3_Missense_Mutation_p.D422N	NM_001129727.1|NM_015432.3	NP_001123199.1|NP_056247.1	Q58EX7	PKHG4_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4	422					regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	37				OV - Ovarian serous cystadenocarcinoma(108;0.00376)|Epithelial(162;0.0173)|all cancers(182;0.116)|Kidney(780;0.119)		GACGGCAATGGACAAGGCTGA	0.562													A	67316416	G	A	67316416	3	1	788	1	0	0	0	0	1	0	0	0	12148	1174	41	2	1298	2	PLEKHG4	16	67316416	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	65770828	67316416	23038337	34	58154											
MYH2	4620	broad.mit.edu	37	chr17	10435136	10435136	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggcttgatcttgaagaagagTttcatccagggccagtgctt	9	12	12	8	0	2	4	1	2	1	2	3	4	3	4	2	2	1	3	2	2	2	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10435136T>A	ENST00000245503.5	-	22	2895	c.2511A>T	c.(2509-2511)aaA>aaT	p.K837N	RP11-799N11.1_ENST00000399342.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.K837N|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	837					muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGAAGAAGAGTTTCATCCAGG	0.403													A	10435136	T	A	10435136	3	1	788	1	0	0	0	0	1	0	0	0	10111	1722	60	5	3390	5	MYH2	17	10435136	Missense_Mutation	SNP	T	TCGA-W9-A837-01A-11D-A36O-08		10435136	70760074	35	58155											
TMEM220	388335	broad.mit.edu	37	chr17	10628335	10628335	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	cgtcaccgctcacctgccttCttcctcatgtaagatgttct	6	14	6	15	2	5	1	3	0	2	1	6	1	6	1	4	0	1	3	4	0	1	4			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:10628335C>G	ENST00000341871.3	-	4	744	c.280G>C	c.(280-282)Gaa>Caa	p.E94Q	TMEM220_ENST00000578345.1_Missense_Mutation_p.E84Q|TMEM220_ENST00000455996.2_Missense_Mutation_p.E84Q|TMEM220_ENST00000580186.1_5'UTR	NM_001004313.1	NP_001004313.1	Q6QAJ8	TM220_HUMAN	transmembrane protein 220	94						integral to membrane				kidney(1)|large_intestine(1)|lung(1)|prostate(2)	5						CACCTGCCTTCTTCCTCATGT	0.473													G	10628335	C	G	10628335	3	3	788	1	0	0	0	0	1	0	0	0	16244	922	32	4	214	4	TMEM220	17	10628335	Missense_Mutation	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	193199	10628335	70566875	36	58156											
DNAH9	1770	broad.mit.edu	37	chr17	11584134	11584134	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaatgaagtgacactcctccGccagaggtgcacagccttcg	11	7	10	13	2	0	3	0	2	0	1	3	3	2	3	4	1	2	1	4	1	2	1			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11584134G>A	ENST00000262442.4	+	19	3739	c.3671G>A	c.(3670-3672)cGc>cAc	p.R1224H	DNAH9_ENST00000454412.2_Missense_Mutation_p.R1224H	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		Stem (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		ACACTCCTCCGCCAGAGGTGC	0.532													A	11584134	G	A	11584134	3	1	788	1	0	0	0	0	1	0	0	0	4647	1087	38	1	3745	1	DNAH9	17	11584134	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08	955799	11584134	69611076	37	58157											
DNAH9	1770	broad.mit.edu	37	chr17	11684410	11684410	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actcatctatttcattgatgAcatgaacatgcctgaggtgg	11	13	9	8	0	3	4	2	4	1	0	3	4	3	4	1	2	2	0	1	2	2	3			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr17:11684410A>G	ENST00000262442.4	+	39	7705	c.7637A>G	c.(7636-7638)gAc>gGc	p.D2546G	DNAH9_ENST00000454412.2_Missense_Mutation_p.D2546G	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9		AAA 3 (By similarity).				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TTCATTGATGACATGAACATG	0.547													G	11684410	A	G	11684410	3	3	788	1	0	0	0	0	1	0	0	0	4647	275	10	3	7791	3	DNAH9	17	11684410	Missense_Mutation	SNP	A	TCGA-W9-A837-01A-11D-A36O-08	100276	11684410	69510800	38	58158											
ABCA7	10347	broad.mit.edu	37	chr19	1057960	1057960	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagcctccttcttcttctccGtgcccagcacagcctatgtg	5	12	7	17	1	3	0	0	0	3	0	5	0	4	0	5	0	4	1	5	0	1	4	rs141237099	by1000genomes	TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:1057960G>A	ENST00000263094.6	+	36	5158	c.4927G>A	c.(4927-4929)Gtg>Atg	p.V1643M	ABCA7_ENST00000435683.2_Missense_Mutation_p.V1505M|ABCA7_ENST00000433129.1_Missense_Mutation_p.V1643M	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	1643					phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		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)		CTTCTTCTCCGTGCCCAGCAC	0.522													A	1057960	G	A	1057960	3	1	788	1	0	0	0	0	1	0	0	0	37	1145	40	1	5065	1	ABCA7	19	1057960	Missense_Mutation	SNP	G	TCGA-W9-A837-01A-11D-A36O-08		1057960	58071023	39	58159											
CRTC1	23373	broad.mit.edu	37	chr19	18888093	18888093	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cccctggacgaactcaagatCgaccccctgaccctcgacgg	9	5	9	18	4	1	2	1	1	0	1	3	6	1	3	5	2	1	0	5	2	2	0			TCGA-W9-A837-01A-11D-A36O-08	TCGA-W9-A837-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4cde89bf-7a49-4ec1-8cbb-505e17a13016	4c85a4ba-ea92-4b99-9c08-0b4943620dc9	g.chr19:18888093C>T	ENST00000338797.6	+	15	1879	c.1854C>T	c.(1852-1854)atC>atT	p.I618I	CRTC1_ENST00000601916.1_Silent_p.I360I|CRTC1_ENST00000321949.8_Silent_p.I602I|CRTC1_ENST00000594658.1_Silent_p.I561I	NM_001098482.1	NP_001091952.1	Q6UUV9	CRTC1_HUMAN	CREB regulated transcription coactivator 1	602					interspecies interaction between organisms|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	cAMP response element binding protein binding|protein binding		CRTC1/MAML2(516)	NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	19						AACTCAAGATCGACCCCCTGA	0.642													T	18888093	C	T	18888093	2	4	788	1	0	0	0	0	0	0	0	1	3930	874	31	1		1	CRTC1	19	18888093	Silent	SNP	C	TCGA-W9-A837-01A-11D-A36O-08	17830133	18888093	40240890	40	58160											
SMPDL3B	27293	broad.mit.edu	37	chr1	28285340	28285340	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctgctgggcctgtgcacgctCgtgctgtgacctgccaggct	3	10	14	14	2	0	1	0	1	0	0	1	1	0	1	3	2	4	5	3	2	0	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:28285340C>T	ENST00000373894.3	+	8	1550	c.1359C>T	c.(1357-1359)ctC>ctT	p.L453L	RP11-460I13.2_ENST00000448015.1_RNA|SMPDL3B_ENST00000549094.1_Silent_p.L405L	NM_014474.2	NP_055289.2	Q92485	ASM3B_HUMAN	sphingomyelin phosphodiesterase, acid-like 3B	453				LVL -> TRAVTCQAHHSSW (in Ref. 1; CAA69328).	sphingomyelin catabolic process	extracellular space	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity			endometrium(2)|kidney(1)|large_intestine(2)|lung(3)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	16		Colorectal(325;3.46e-05)|all_lung(284;0.000414)|Lung NSC(340;0.000431)|Renal(390;0.00121)|Breast(348;0.00345)|Ovarian(437;0.00503)|all_neural(195;0.0208)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;5.68e-24)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00273)|STAD - Stomach adenocarcinoma(196;0.00303)|BRCA - Breast invasive adenocarcinoma(304;0.00587)|READ - Rectum adenocarcinoma(331;0.055)		TGTGCACGCTCGTGCTGTGAC	0.652													T	28285340	C	T	28285340	2	4	789	1	0	0	0	0	0	0	0	1	14903	871	31	1		1	SMPDL3B	1	28285340	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		28285340	220965281	1	58161											
CELF3	11189	broad.mit.edu	37	chr1	151678361	151678361	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggctgagatgacgtggccaaAggggacaaacatctggagga	13	5	16	7	1	1	2	0	2	1	1	1	6	1	5	1	6	1	1	1	6	2	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:151678361A>G	ENST00000290583.4	-	11	2000	c.1207T>C	c.(1207-1209)Ttt>Ctt	p.F403L	RP11-98D18.1_ENST00000457548.1_RNA|CELF3_ENST00000290585.4_Missense_Mutation_p.F353L|CELF3_ENST00000470688.1_5'UTR|CELF3_ENST00000392706.3_Missense_Mutation_p.F198L	NM_001172648.1|NM_007185.4	NP_001166119.1|NP_009116.3	Q5SZQ8	CELF3_HUMAN	CUGBP, Elav-like family member 3	403	RRM 3.				nuclear mRNA splicing, via spliceosome|regulation of alternative nuclear mRNA splicing, via spliceosome	cytoplasm|nucleus	mRNA binding|nucleotide binding			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)	21						ACGTGGCCAAAGGGGACAAAC	0.493													G	151678361	A	G	151678361	3	3	789	1	0	0	0	0	1	0	0	0	3247	72	3	3	198	3	CELF3	1	151678361	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	123393021	151678361	97572260	2	58162											
SEMA4A	64218	broad.mit.edu	37	chr1	156131199	156131199	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	accttcctgaaggcccagctGctctgcacccagccggggca	7	6	11	17	1	1	1	0	1	1	0	2	1	2	1	5	3	4	4	5	3	1	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr1:156131199G>T	ENST00000368285.3	+	9	1140	c.873G>T	c.(871-873)ctG>ctT	p.L291L	SEMA4A_ENST00000355014.2_Silent_p.L291L|SEMA4A_ENST00000487358.1_3'UTR|SEMA4A_ENST00000368282.1_Silent_p.L291L|SEMA4A_ENST00000368284.1_Silent_p.L159L|SEMA4A_ENST00000368286.2_Silent_p.L159L	NM_001193300.1|NM_022367.3	NP_001180229.1|NP_071762.2	Q9H3S1	SEM4A_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4A	291	Sema.				axon guidance	integral to membrane|plasma membrane	receptor activity			breast(1)|ovary(2)|skin(2)	5	Hepatocellular(266;0.158)					AGGCCCAGCTGCTCTGCACCC	0.672													T	156131199	G	T	156131199	2	4	789	1	0	0	0	0	0	0	0	1	14124	1306	46	4		4	SEMA4A	1	156131199	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	4452838	156131199	93119422	3	58163											
DNMT3A	1788	broad.mit.edu	37	chr2	25470556	25470556	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	caagacacaatgcggcctggCcaccaggagaagccccgcag	12	2	12	15	2	0	2	0	0	0	2	0	3	0	2	5	3	2	1	5	3	3	0	rs140925689		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:25470556C>T	ENST00000264709.3	-	8	1255	c.918G>A	c.(916-918)tgG>tgA	p.W306*	DNMT3A_ENST00000402667.1_Nonsense_Mutation_p.W83*|DNMT3A_ENST00000380746.4_Nonsense_Mutation_p.W117*|DNMT3A_ENST00000321117.5_Nonsense_Mutation_p.W306*	NM_175629.2	NP_783328.1	Q9Y6K1	DNM3A_HUMAN	DNA (cytosine-5-)-methyltransferase 3 alpha	306	Interaction with DNMT1 and DNMT3B.|PWWP.				regulation of gene expression by genetic imprinting	cytoplasm|euchromatin|nuclear matrix	DNA (cytosine-5-)-methyltransferase activity|DNA binding|metal ion binding|protein binding			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(964)|kidney(3)|large_intestine(10)|lung(29)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	1021	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGGCCTGGCCACCAGGAGA	0.617			"Mis, F, N, S"		AML								T	25470556	C	T	25470556	4	4	789	1	0	0	0	0	0	1	0	0	4715	740	26	2	1884	2	DNMT3A	2	25470556	Nonsense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		25470556	217728817	4	58164											
VIT	5212	broad.mit.edu	37	chr2	37035700	37035700	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cctgcagcctctggtgaagcGggtctgcgacactgaccgcc	6	7	13	15	3	2	2	0	2	2	0	2	3	2	2	4	2	4	1	4	2	1	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:37035700G>A	ENST00000379242.3	+	15	1777	c.1475G>A	c.(1474-1476)cGg>cAg	p.R492Q	VIT_ENST00000404084.1_Missense_Mutation_p.R429Q|VIT_ENST00000497382.1_Missense_Mutation_p.R146Q|VIT_ENST00000379241.3_Missense_Mutation_p.R455Q|VIT_ENST00000389975.3_Missense_Mutation_p.R477Q|VIT_ENST00000401530.1_Missense_Mutation_p.R456Q	NM_053276.3	NP_444506.2	Q6UXI7	VITRN_HUMAN	vitrin	477						proteinaceous extracellular matrix				autonomic_ganglia(1)|breast(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	57		all_hematologic(82;0.248)				CTGGTGAAGCGGGTCTGCGAC	0.612													A	37035700	G	A	37035700	3	1	789	1	0	0	0	0	1	0	0	0	17273	1116	39	1	1654	1	VIT	2	37035700	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	11565144	37035700	206163673	5	58165											
LYG2	254773	broad.mit.edu	37	chr2	99863226	99863226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catagcagccgtggtacaggCgtggatgtaggtgaggcttc	8	9	16	8	2	0	1	0	1	0	0	1	2	0	2	1	5	3	4	1	5	3	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:99863226C>T	ENST00000409679.1	-	3	245	c.101G>A	c.(100-102)cGc>cAc	p.R34H	LYG2_ENST00000423800.1_Missense_Mutation_p.R34H|LYG2_ENST00000409238.1_Missense_Mutation_p.R34H|LYG2_ENST00000333017.2_Missense_Mutation_p.R34H			Q86SG7	LYG2_HUMAN	lysozyme G-like 2	34					cell wall macromolecule catabolic process|peptidoglycan catabolic process	extracellular region	lysozyme activity			large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(1)|stomach(1)	12						GTGGTACAGGCGTGGATGTAG	0.512													T	99863226	C	T	99863226	3	4	789	1	0	0	0	0	1	0	0	0	9176	768	27	1	553	1	LYG2	2	99863226	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	62827526	99863226	143336147	6	58166											
IL18R1	8809	broad.mit.edu	37	chr2	102992417	102992417	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaaaacccaacgataaagaaGaacgccgagtttgaagatca	20	5	8	8	3	1	4	1	1	0	3	1	6	1	4	2	0	3	1	2	0	8	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:102992417G>T	ENST00000409599.1	+	6	875	c.519G>T	c.(517-519)aaG>aaT	p.K173N	IL18R1_ENST00000233957.1_Missense_Mutation_p.K173N			Q13478	IL18R_HUMAN	interleukin 18 receptor 1	173	Ig-like C2-type 2.				innate immune response	integral to membrane|plasma membrane	interleukin-1 receptor activity			breast(1)|endometrium(3)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	34						CGATAAAGAAGAACGCCGAGT	0.313													T	102992417	G	T	102992417	3	4	789	1	0	0	0	0	1	0	0	0	7705	933	33	4	533	4	IL18R1	2	102992417	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	3129191	102992417	140206956	7	58167											
RANBP2	5903	broad.mit.edu	37	chr2	109365547	109365547	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tattggaaacattgatgtacGagaaccagagcttgaagatt	15	11	10	5	1	0	5	0	2	0	3	0	7	0	6	1	1	4	2	1	1	5	6			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:109365547G>A	ENST00000283195.6	+	9	1361	c.1235G>A	c.(1234-1236)cGa>cAa	p.R412Q		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	412					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						ATTGATGTACGAGAACCAGAG	0.373													A	109365547	G	A	109365547	3	1	789	1	0	0	0	0	1	0	0	0	13116	1058	37	1	1269	1	RANBP2	2	109365547	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	6373130	109365547	133833826	8	58168											
MDH1B	130752	broad.mit.edu	37	chr2	207615788	207615788	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatattaccccaaatgatcaCgtctttaatgtctgtgaaga	13	13	7	8	1	3	3	1	2	2	1	3	4	3	3	2	0	1	0	2	0	5	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:207615788C>T	ENST00000374412.3	-	6	1197	c.922G>A	c.(922-924)Gtg>Atg	p.V308M	MDH1B_ENST00000449792.1_Missense_Mutation_p.V210M|MDH1B_ENST00000392214.2_Intron|MDH1B_ENST00000454776.2_Missense_Mutation_p.V308M	NM_001039845.1|NM_001282940.1	NP_001034934.1|NP_001269869.1	Q5I0G3	MDH1B_HUMAN	malate dehydrogenase 1B, NAD (soluble)	308					carbohydrate metabolic process|malate metabolic process|tricarboxylic acid cycle		binding|malate dehydrogenase activity			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(14)|ovary(4)|stomach(1)	34				LUSC - Lung squamous cell carcinoma(261;0.0763)|Epithelial(149;0.131)|Lung(261;0.145)		CAAATGATCACGTCTTTAATG	0.323													T	207615788	C	T	207615788	3	4	789	1	0	0	0	0	1	0	0	0	9484	536	19	1	662	1	MDH1B	2	207615788	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	98250241	207615788	35583585	9	58169											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	789	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	1497324	209113112	34086261	10	58170											
CPNE9	151835	broad.mit.edu	37	chr3	9768379	9768379	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcccatgtctatcattatcGtcggtgtaggaccagccatg	8	12	10	11	2	2	0	1	0	1	0	4	1	2	1	3	2	2	1	3	2	3	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:9768379G>A	ENST00000383832.3	+	19	1565	c.1375G>A	c.(1375-1377)Gtc>Atc	p.V459I	CPNE9_ENST00000383831.3_Missense_Mutation_p.V459I	NM_153635.2	NP_705899.2	Q8IYJ1	CPNE9_HUMAN	copine family member IX	459	VWFA.							p.V459I(2)		breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(2)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	16	Medulloblastoma(99;0.227)					TATCATTATCGTCGGTGTAGG	0.547													A	9768379	G	A	9768379	3	1	789	1	0	0	0	0	1	0	0	0	3850	1145	40	1	1445	1	CPNE9	3	9768379	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		9768379	188254051	11	58171											
TNIK	23043	broad.mit.edu	37	chr3	170928956	170928956	+	Frame_Shift_Del	DEL	G	G	-																															tttttgataaaagcaccataGtatgtagcaatattccggtg																										TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr3:170928956delG	ENST00000436636.2	-	4	599	c.255delC	c.(253-255)tacfs	p.Y86fs	TNIK_ENST00000369326.5_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000475336.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000284483.8_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000538048.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000470834.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000488470.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000341852.6_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000460047.1_Frame_Shift_Del_p.Y86fs|TNIK_ENST00000357327.5_Frame_Shift_Del_p.Y86fs	NM_015028.2	NP_055843.1	Q9UKE5	TNIK_HUMAN	TRAF2 and NCK interacting kinase	86	Protein kinase.				actin cytoskeleton reorganization|activation of JNKK activity|protein autophosphorylation|regulation of dendrite morphogenesis|Wnt receptor signaling pathway	cytoskeleton|nucleus|recycling endosome	ATP binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity			cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(22)|ovary(5)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(2)	62	all_cancers(22;2.55e-19)|all_lung(20;2.22e-14)|Ovarian(172;0.00197)|Breast(254;0.122)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)			AAGCACCATAGTATGTAGCAA	0.338													-	170928956	G	-	170928956	7	5	789	1	0	1	0	1	0	0	0	0	16413	1024	36	0	3947	0	TNIK	3	170928956	Frame_Shift_Del	DEL	G	TCGA-WH-A86K-01A-11D-A36O-08	161160577	170928956	27093474	12	58172											
HMGCS1	3157	broad.mit.edu	37	chr5	43298628	43298628	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	catgtaacataccatcccaaGagctggactcaatccagtta	14	9	6	12	0	1	1	1	0	0	1	3	2	3	2	3	1	3	3	3	1	5	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr5:43298628G>C	ENST00000325110.6	-	3	646	c.440C>G	c.(439-441)tCt>tGt	p.S147C	HMGCS1_ENST00000433297.2_Missense_Mutation_p.S147C	NM_001098272.2	NP_001091742.1	Q01581	HMCS1_HUMAN	3-hydroxy-3-methylglutaryl-CoA synthase 1 (soluble)	147					cholesterol biosynthetic process|isoprenoid biosynthetic process	cytosol|soluble fraction	hydroxymethylglutaryl-CoA synthase activity			NS(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|stomach(1)|urinary_tract(1)	15						ACCATCCCAAGAGCTGGACTC	0.428													C	43298628	G	C	43298628	3	2	789	1	0	0	0	0	1	0	0	0	7287	942	33	4	1158	4	HMGCS1	5	43298628	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		43298628	137616632	13	58173											
DSP	1832	broad.mit.edu	37	chr6	7581050	7581050	+	Nonsense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cacgcctgaggatcgactatGaaagggtttcccaggagagg	11	7	14	9	2	0	3	0	2	0	1	2	6	1	4	2	4	0	1	2	4	2	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:7581050G>T	ENST00000379802.3	+	23	4968	c.4627G>T	c.(4627-4629)Gaa>Taa	p.E1543*	DSP_ENST00000418664.2_Intron	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	1543	Central fibrous rod domain.				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		GATCGACTATGAAAGGGTTTC	0.507													T	7581050	G	T	7581050	4	4	789	1	0	0	0	0	0	1	0	0	4820	1291	45	4	4717	4	DSP	6	7581050	Nonsense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		7581050	163534017	14	58174											
TRIM38	10475	broad.mit.edu	37	chr6	25967064	25967064	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttccacctgttctgcgAagacgaggggcagctcatct	8	9	12	12	2	3	1	1	0	2	1	4	3	4	1	2	2	2	5	2	2	1	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:25967064A>T	ENST00000357085.3	+	3	790	c.314A>T	c.(313-315)gAa>gTa	p.E105V	TRIM38_ENST00000349458.3_Missense_Mutation_p.E105V	NM_006355.3	NP_006346.1	O00635	TRI38_HUMAN	tripartite motif containing 38	105					positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular	signal transducer activity|zinc ion binding			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(8)|upper_aerodigestive_tract(2)	23						CTGTTCTGCGAAGACGAGGGG	0.562													T	25967064	A	T	25967064	3	4	789	1	0	0	0	0	1	0	0	0	16613	246	9	5	316	5	TRIM38	6	25967064	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	18386014	25967064	145148003	15	58175											
HIST1H4G	8369	broad.mit.edu	37	chr6	26247132	26247132	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggtaatgccctgaatattaTcgctcagtaccttgcgatgg	9	13	10	9	2	1	1	1	1	0	0	2	2	1	1	2	2	3	3	2	2	5	5			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:26247132T>C	ENST00000244537.4	-	1	127	c.74A>G	c.(73-75)gAt>gGt	p.D25G		NM_003547.2	NP_003538.1	Q99525	H4G_HUMAN	histone cluster 1, H4g	25					nucleosome assembly	nucleosome|nucleus	DNA binding			breast(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_hematologic(11;0.0945)|Acute lymphoblastic leukemia(11;0.167)				CTGAATATTATCGCTCAGTAC	0.547													C	26247132	T	C	26247132	3	2	789	1	0	0	0	0	1	0	0	0	7226	1435	50	3	226	3	HIST1H4G	6	26247132	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	280068	26247132	144867935	16	58176											
MICA	100507436	broad.mit.edu	37	chr6	31379100	31379100	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctgcaggaactacggCgatatctagaatccggcgta	11	8	11	11	4	1	1	0	0	1	1	2	3	2	2	2	3	4	2	2	3	6	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr6:31379100C>T	ENST00000449934.2	+	3	631	c.577C>T	c.(577-579)Cga>Tga	p.R193*	HCP5_ENST00000414046.2_RNA	NM_001177519.1	NP_001170990.1	Q29983	MICA_HUMAN	MHC class I polypeptide-related sequence A	193					antigen processing and presentation|cytolysis|defense response to bacterium|defense response to virus|gamma-delta T cell activation|immune response to tumor cell|response to DNA damage stimulus|response to heat|stimulatory C-type lectin receptor signaling pathway	cell surface|cytoplasm|extracellular space|integral to plasma membrane|MHC class I protein complex	natural killer cell lectin-like receptor binding			breast(1)|endometrium(3)|kidney(1)	5		Ovarian(999;0.0253)				GGAACTACGGCGATATCTAGA	0.542													T	31379100	C	T	31379100	4	4	789	1	0	0	0	0	0	1	0	0	9643	760	27	1	587	1	MICA	6	31379100	Nonsense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	5131968	31379100	139735967	17	58177											
CCT6A	908	broad.mit.edu	37	chr7	56127963	56127967	+	Splice_Site	DEL	GAGAA	GAGAA	-																															atattttttctacacataggGagaagagaagtttaccttta																										TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:56127963_56127967delGAGAA	ENST00000275603.4	+	10	1286_1290	c.1067_1071delGAGAA	c.(1066-1071)ggagaa>g	p.GE356fs	CCT6A_ENST00000540286.1_Splice_Site_p.GE325fs|CCT6A_ENST00000335503.3_Splice_Site_p.GE311fs	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	356					'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TACACATAGGGAGAAGAGAAGTTTA	0.361													-	56127967	GAGAA	-	56127963	8	5	789	1	0	1	0	1	0	0	1	0	2987	1188	41	0	1105	0	CCT6A	7	56127963	Splice_Site	DEL	GAGAA	TCGA-WH-A86K-01A-11D-A36O-08		56127963	103010700	18	58178											
CLIP2	7461	broad.mit.edu	37	chr7	73768332	73768332	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatggggcggtggcgggcacCaggtatggtgggcttcttct	4	10	19	8	2	2	0	0	0	2	0	2	1	2	0	1	8	0	3	1	8	1	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr7:73768332C>A	ENST00000223398.6	+	4	1128	c.801C>A	c.(799-801)acC>acA	p.T267T	CLIP2_ENST00000395060.1_Silent_p.T267T|CLIP2_ENST00000361545.5_Silent_p.T267T	NM_003388.4	NP_003379	Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	267	CAP-Gly 2.					microtubule associated complex				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						TGGCGGGCACCAGGTATGGTG	0.647													A	73768332	C	A	73768332	2	1	789	1	0	0	0	0	0	0	0	1	3564	581	21	4		4	CLIP2	7	73768332	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	17640369	73768332	85370331	19	58179											
XKR4	114786	broad.mit.edu	37	chr8	56270245	56270245	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttctttctagatatttcCacacaatatacttaggtatt	11	19	4	7	0	2	1	0	0	2	1	3	1	3	1	1	1	1	2	1	1	7	11			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:56270245C>T	ENST00000327381.6	+	2	914	c.814C>T	c.(814-816)Cac>Tac	p.H272Y		NM_052898.1	NP_443130.1	Q5GH76	XKR4_HUMAN	XK, Kell blood group complex subunit-related family, member 4							integral to membrane				NS(1)|autonomic_ganglia(1)|endometrium(1)|kidney(3)|large_intestine(4)|liver(2)|lung(12)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	34			Epithelial(17;0.000117)|all cancers(17;0.000836)			TAGATATTTCCACACAATATA	0.383													T	56270245	C	T	56270245	3	4	789	1	0	0	0	0	1	0	0	0	17535	594	21	2	820	2	XKR4	8	56270245	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		56270245	90093777	20	58180											
CYP7B1	9420	broad.mit.edu	37	chr8	65527680	65527680	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaaacggtcaatttcGtcacgcactgctgccatagc	10	9	9	13	3	2	0	2	0	0	0	3	0	2	0	1	1	6	4	1	1	3	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:65527680G>A	ENST00000310193.3	-	4	1133	c.960C>T	c.(958-960)gaC>gaT	p.D320D	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	320					bile acid biosynthetic process|cell death|cholesterol metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	25-hydroxycholesterol 7alpha-hydroxylase activity|electron carrier activity|heme binding|oxysterol 7-alpha-hydroxylase activity	p.D320D(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				GGTCAATTTCGTCACGCACTG	0.488													A	65527680	G	A	65527680	2	1	789	1	0	0	0	0	0	0	0	1	4230	1136	40	1		1	CYP7B1	8	65527680	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	9257435	65527680	80836342	21	58181											
ARFGEF1	10565	broad.mit.edu	37	chr8	68139489	68139489	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agatcgaatgttagcagcttGagaattaaccatctgtgcta	13	12	9	7	1	1	2	0	1	1	2	2	4	1	2	1	0	4	4	1	0	5	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr8:68139489G>C	ENST00000262215.3	-	27	4188	c.3799C>G	c.(3799-3801)Caa>Gaa	p.Q1267E	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.Q105E|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.Q721E	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1267					exocytosis|regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity|myosin binding			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			TTAGCAGCTTGAGAATTAACC	0.363													C	68139489	G	C	68139489	3	2	789	1	0	0	0	0	1	0	0	0	855	1299	45	4	1802	4	ARFGEF1	8	68139489	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	2611809	68139489	78224533	22	58182											
SOHLH1	402381	broad.mit.edu	37	chr9	138589409	138589409	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cacctgcttgaatctgactcGacaacgtcaactgtaaaaca	14	9	6	12	2	2	2	1	2	1	0	3	3	2	2	1	0	4	2	1	0	5	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr9:138589409G>A	ENST00000298466.5	-	4	470	c.410C>T	c.(409-411)tCg>tTg	p.S137L	SOHLH1_ENST00000425225.1_Missense_Mutation_p.S137L	NM_001012415.2	NP_001012415	Q5JUK2	SOLH1_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 1	137					cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(5)|prostate(1)	12		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;1.66e-07)|Epithelial(140;1.11e-06)|all cancers(34;6.45e-05)		AATCTGACTCGACAACGTCAA	0.527													A	138589409	G	A	138589409	3	1	789	1	0	0	0	0	1	0	0	0	15017	1059	37	1	814	1	SOHLH1	9	138589409	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		138589409	2624022	23	58183											
DUSP13	51207	broad.mit.edu	37	chr10	76854454	76854454	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagaaccgccccgtctcccGccccagtcggttgtccagaa	7	7	9	18	4	2	2	1	0	1	2	5	2	3	2	7	1	1	1	7	1	2	1	rs141915692	by1000genomes	TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:76854454G>A	ENST00000491677.2	-	8	1506	c.964C>T	c.(964-966)Cgg>Tgg	p.R322W	DUSP13_ENST00000372702.3_3'UTR|DUSP13_ENST00000607131.1_Missense_Mutation_p.R286W|DUSP13_ENST00000605915.1_Missense_Mutation_p.R215W|DUSP13_ENST00000464872.1_Missense_Mutation_p.R142W|DUSP13_ENST00000478873.2_Missense_Mutation_p.R329W|DUSP13_ENST00000372700.3_Missense_Mutation_p.R243W|DUSP13_ENST00000472493.2_Missense_Mutation_p.R193W	NM_001007271.1	NP_001007272.1	Q6B8I1	MDSP_HUMAN	dual specificity phosphatase 13	0						cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity			large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					CCCGTCTCCCGCCCCAGTCGG	0.647													A	76854454	G	A	76854454	3	1	789	1	0	0	0	0	1	0	0	0	4852	1086	38	1	23	1	DUSP13	10	76854454	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		76854454	58680293	24	58184											
FAM35A	54537	broad.mit.edu	37	chr10	88950272	88950272	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gagatcacctatgggatggtCgtggcagacctgttccactc	8	10	12	11	1	1	2	1	0	0	2	4	4	2	3	3	3	0	2	3	3	1	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:88950272C>T	ENST00000298786.4	+	10	2661	c.2547C>T	c.(2545-2547)gtC>gtT	p.V849V	FAM35A_ENST00000298784.1_Silent_p.V780V			Q86V20	FA35A_HUMAN	family with sequence similarity 35, member A	780										endometrium(2)|kidney(2)|large_intestine(5)|lung(1)|ovary(2)|prostate(2)|skin(2)	16						ATGGGATGGTCGTGGCAGACC	0.463													T	88950272	C	T	88950272	2	4	789	1	0	0	0	0	0	0	0	1	5604	871	31	1		1	FAM35A	10	88950272	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	12095818	88950272	46584475	25	58185											
FRG2B	441581	broad.mit.edu	37	chr10	135440109	135440109	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tcactggaatgggagaaggcGgtcttgcctttttctttgaa	8	14	12	7	1	3	2	1	1	2	1	3	4	3	3	1	4	1	0	1	4	3	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr10:135440109G>A	ENST00000443774.1	-	1	187	c.138C>T	c.(136-138)acC>acT	p.T46T	FRG2B_ENST00000425520.1_Silent_p.T46T			Q96QU4	FRG2B_HUMAN	FSHD region gene 2 family, member B	46						nucleus				endometrium(2)|kidney(2)|lung(14)|ovary(1)|prostate(1)	20		all_cancers(35;7.01e-07)|all_epithelial(44;1.45e-05)|Lung NSC(174;0.027)|all_lung(145;0.0384)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)		GGGAGAAGGCGGTCTTGCCTT	0.507													A	135440109	G	A	135440109	2	1	789	1	0	0	0	0	0	0	0	1	6099	1103	39	1		1	FRG2B	10	135440109	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	46489837	135440109	94638	26	58186											
KRT1	3848	broad.mit.edu	37	chr12	53069171	53069171	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtagcccccactgctgcttcCggagccgtagctgccatggc	5	8	12	16	2	0	0	0	0	0	0	1	1	1	1	5	2	6	5	5	2	2	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr12:53069171C>T	ENST00000252244.3	-	9	1799	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	581	Gly/Ser-rich.|Tail.				complement activation, lectin pathway|epidermis development|fibrinolysis|regulation of angiogenesis|response to oxidative stress	plasma membrane	protein binding|receptor activity|structural constituent of cytoskeleton|sugar binding			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ctgctgcttccggagccgtag	0.726													T	53069171	C	T	53069171	3	4	789	1	0	0	0	0	1	0	0	0	8505	661	23	1	197	1	KRT1	12	53069171	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		53069171	80782724	27	58187											
POTEM	641455	broad.mit.edu	37	chr14	20019849	20019849	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggctccatgaaagcgctgtcGtcgtagtctccccaggggcc	6	8	13	14	3	1	1	0	1	1	0	5	1	2	1	4	3	1	3	4	3	2	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:20019849G>A	ENST00000551509.1	-	1	423	c.372C>T	c.(370-372)gaC>gaT	p.D124D		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	124										endometrium(4)|kidney(1)|lung(4)	9						AAGCGCTGTCGTCGTAGTCTC	0.597													A	20019849	G	A	20019849	2	1	789	1	0	0	0	0	0	0	0	1	12345	1136	40	1		1	POTEM	14	20019849	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		20019849	87329691	28	58188											
ADCY4	196883	broad.mit.edu	37	chr14	24787935	24787935	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccccaaatgtcatattgCggcttctgggccccaataac	9	11	8	13	1	2	0	1	0	1	0	2	0	2	0	4	2	3	1	4	2	4	5			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr14:24787935C>T	ENST00000310677.4	-	25	3119	c.3006G>A	c.(3004-3006)ccG>ccA	p.P1002P	ADCY4_ENST00000418030.2_Silent_p.P1002P|ADCY4_ENST00000554068.2_Silent_p.P1002P	NM_001198568.1|NM_001198592.1|NM_139247.3	NP_001185497.1|NP_001185521.1|NP_640340.2	Q8NFM4	ADCY4_HUMAN	adenylate cyclase 4	1002					activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|integral to membrane|plasma membrane	adenylate cyclase activity|ATP binding|metal ion binding|protein binding			cervix(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(265;0.0192)		TGTCATATTGCGGCTTCTGGG	0.522													T	24787935	C	T	24787935	2	4	789	1	0	0	0	0	0	0	0	1	296	755	27	1		1	ADCY4	14	24787935	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	4768086	24787935	82561605	29	58189											
PDE8A	5151	broad.mit.edu	37	chr15	85669478	85669478	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	agtgataaacactatgcttaGgactccagagaaccggaccc	14	7	9	11	1	0	2	0	1	0	1	1	5	1	4	3	2	3	1	3	2	5	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr15:85669478G>A	ENST00000310298.4	+	21	2378	c.2126G>A	c.(2125-2127)aGg>aAg	p.R709K	PDE8A_ENST00000339708.5_Missense_Mutation_p.R663K|PDE8A_ENST00000394553.1_Missense_Mutation_p.R709K|PDE8A_ENST00000557957.1_Missense_Mutation_p.R637K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	709	Catalytic (By similarity).				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)			ACTATGCTTAGGACTCCAGAG	0.468													A	85669478	G	A	85669478	3	1	789	1	0	0	0	0	1	0	0	0	11729	1000	35	2	2204	2	PDE8A	15	85669478	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		85669478	16861914	30	58190											
MSLN	10232	broad.mit.edu	37	chr16	812765	812765	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgttcctgctcttcagcctcGgtgcgtacttgatggggctg	3	14	13	11	2	2	1	1	1	1	0	4	1	3	1	2	3	4	4	2	3	1	4			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:812765G>A	ENST00000566549.1	+	2	502	c.85G>A	c.(85-87)Gga>Aga	p.G29R	MSLN_ENST00000545450.2_Splice_Site_p.G29R|MSLN_ENST00000382862.3_Splice_Site_p.G29R|MSLN_ENST00000563941.1_Splice_Site_p.G29R			Q13421	MSLN_HUMAN	mesothelin	29					cell adhesion	anchored to membrane|extracellular region|Golgi apparatus|plasma membrane				breast(2)|kidney(2)|lung(11)|pancreas(1)|prostate(1)|skin(3)	20		Hepatocellular(780;0.00335)				CTTCAGCCTCGGTGCGTACTT	0.682													A	812765	G	A	812765	5	1	789	1	0	0	0	0	0	0	1	0	9957	1130	39	1	87	1	MSLN	16	812765	Splice_Site	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		812765	89541988	31	58191											
TMC5	79838	broad.mit.edu	37	chr16	19451395	19451395	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caggaataactggtctgaggAagacccagattaccctgact	13	8	10	10	0	1	4	0	2	1	2	1	6	1	6	2	3	2	0	2	3	4	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:19451395A>G	ENST00000396229.2	+	3	784	c.35A>G	c.(34-36)gAa>gGa	p.E12G	TMC5_ENST00000542583.2_Missense_Mutation_p.E12G|TMC5_ENST00000381414.4_Missense_Mutation_p.E12G|TMC5_ENST00000541464.1_Missense_Mutation_p.E12G	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	12						integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGGTCTGAGGAAGACCCAGAT	0.468													G	19451395	A	G	19451395	3	3	789	1	0	0	0	0	1	0	0	0	16088	246	9	3	37	3	TMC5	16	19451395	Missense_Mutation	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	18638630	19451395	70903358	32	58192											
PKD1L2	114780	broad.mit.edu	37	chr16	81236151	81236151	+	RNA	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacagaggatccccaaagAcagcctggcagagagggccg	12	3	13	13	1	0	3	0	0	0	3	2	5	2	4	5	3	1	1	5	3	1	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr16:81236151A>G	ENST00000337114.4	-	0	1096				PKD1L2_ENST00000525539.1_RNA	NM_001076780.1	NP_001070248.1	Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						neuropeptide signaling pathway	integral to membrane	calcium ion binding|ion channel activity|sugar binding			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						ATCCCCAAAGACAGCCTGGCA	0.557													G	81236151	A	G	81236151	1	3	789	0	1	0	0	0	0	0	0	0	12042	275	10	3		3	PKD1L2	16	81236151	RNA	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	61784756	81236151	9118602	33	58193											
PRPF8	10594	broad.mit.edu	37	chr17	1578513	1578513	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgttgtggtccacgatgaggCgcagcagcctgttgagcaga	8	9	15	9	2	0	3	0	2	0	1	1	4	1	3	2	2	3	5	2	2	0	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:1578513C>T	ENST00000572621.1	-	19	3258	c.2993G>A	c.(2992-2994)cGc>cAc	p.R998H	PRPF8_ENST00000304992.6_Missense_Mutation_p.R998H			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	998						catalytic step 2 spliceosome|nuclear speck|U5 snRNP	protein binding|RNA binding	p.R998P(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		CACGATGAGGCGCAGCAGCCT	0.512													T	1578513	C	T	1578513	3	4	789	1	0	0	0	0	1	0	0	0	12661	768	27	1	4110	1	PRPF8	17	1578513	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		1578513	79616697	34	58194											
SLC16A11	162515	broad.mit.edu	37	chr17	6945197	6945197	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	cagacaggaggaaagaggcgGtgaagtctcctgtctcatcc	11	7	13	10	1	2	3	1	1	2	2	5	5	3	5	2	4	0	0	2	4	2	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:6945197G>T	ENST00000308009.1	-	4	1554	c.1217C>A	c.(1216-1218)aCc>aAc	p.T406N	SLC16A11_ENST00000447225.1_Missense_Mutation_p.T374N	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11	406						integral to membrane|plasma membrane	symporter activity			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						GAAAGAGGCGGTGAAGTCTCC	0.572													T	6945197	G	T	6945197	3	4	789	1	0	0	0	0	1	0	0	0	14498	1261	44	4	202	4	SLC16A11	17	6945197	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	5366684	6945197	74250013	35	58195											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	789	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	631924	7577121	73618089	36	58196											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000574684.1_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_Missense_Mutation_p.Y220C|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	789	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	1069	7578190	73617020	37	58197											
UNC45B	146862	broad.mit.edu	37	chr17	33495212	33495212	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgatggagatgatggtggcActatgtggctcagagcgcga	9	9	17	6	2	1	4	1	2	0	2	1	6	1	4	0	4	1	2	0	4	1	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:33495212A>T	ENST00000268876.5	+	10	1381	c.1284A>T	c.(1282-1284)gcA>gcT	p.A428A	UNC45B_ENST00000378449.1_Silent_p.A428A|UNC45B_ENST00000394570.2_Silent_p.A428A|UNC45B_ENST00000433649.1_Silent_p.A428A|UNC45B_ENST00000591048.1_Silent_p.A428A	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	428					cell differentiation|muscle organ development	cytosol	binding			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				TGATGGTGGCACTATGTGGCT	0.597													T	33495212	A	T	33495212	2	4	789	1	0	0	0	0	0	0	0	1	17091	146	6	5		5	UNC45B	17	33495212	Silent	SNP	A	TCGA-WH-A86K-01A-11D-A36O-08	25917022	33495212	47699998	38	58198											
CDC27	996	broad.mit.edu	37	chr17	45214654	45214654	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	atttggatcaacttggatagCtctctggaagaatttaattg	12	15	9	5	0	2	1	1	0	1	1	3	4	2	4	0	3	2	1	0	3	5	6			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:45214654C>T	ENST00000066544.3	-	14	1870	c.1777G>A	c.(1777-1779)Gct>Act	p.A593T	CDC27_ENST00000531206.1_Missense_Mutation_p.A599T|CDC27_ENST00000527547.1_Missense_Mutation_p.A592T|CDC27_ENST00000446365.2_Missense_Mutation_p.A532T	NM_001114091.1|NM_001256.3	NP_001107563.1|NP_001247.3	P30260	CDC27_HUMAN	cell division cycle 27	593					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell proliferation|mitotic cell cycle spindle assembly checkpoint|mitotic metaphase/anaphase transition|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|centrosome|cytosol|nucleoplasm|spindle microtubule	protein phosphatase binding			NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(2)|kidney(17)|large_intestine(18)|lung(11)|ovary(5)|pancreas(1)|prostate(19)|skin(5)|upper_aerodigestive_tract(2)	90						ACTTGGATAGCTCTCTGGAAG	0.388													T	45214654	C	T	45214654	3	4	789	1	0	0	0	0	1	0	0	0	3096	797	28	2	721	2	CDC27	17	45214654	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	11719442	45214654	35980556	39	58199											
FADS6	283985	broad.mit.edu	37	chr17	72875555	72875555	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ttcaggcacatgttatcagaGagcctggggaatagatggtg	11	10	14	6	0	2	2	2	0	0	2	2	4	2	3	1	4	1	2	1	4	3	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr17:72875555G>C	ENST00000310226.6	-	5	899	c.885C>G	c.(883-885)ctC>ctG	p.L295L		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	301					fatty acid biosynthetic process	integral to membrane	oxidoreductase activity			endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					TGTTATCAGAGAGCCTGGGGA	0.602													C	72875555	G	C	72875555	2	2	789	1	0	0	0	0	0	0	0	1	5413	929	33	4		4	FADS6	17	72875555	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08	27660901	72875555	8319655	40	58200											
LAMA1	284217	broad.mit.edu	37	chr18	7033055	7033055	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gcggccaccaccaggtcgatGgcattagagctggctatgtc	8	8	13	12	2	0	1	0	0	0	1	2	2	0	1	3	4	1	3	3	4	2	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr18:7033055G>A	ENST00000389658.3	-	15	2184	c.2091C>T	c.(2089-2091)gcC>gcT	p.A697A		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	697	Laminin IV type A 1.				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)	CCAGGTCGATGGCATTAGAGC	0.507													A	7033055	G	A	7033055	2	1	789	1	0	0	0	0	0	0	0	1	8664	1335	47	2		2	LAMA1	18	7033055	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		7033055	71044193	41	58201											
AZU1	566	broad.mit.edu	37	chr19	831865	831865	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gttctcaacaacccgggaccGgggccagcctaggggggcct	7	5	15	14	2	1	0	1	0	1	0	2	1	1	1	5	6	3	1	5	6	3	2			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:831865G>A	ENST00000233997.2	+	5	765	c.744G>A	c.(742-744)ccG>ccA	p.P248P		NM_001700.3	NP_001691.1	P20160	CAP7_HUMAN	azurocidin 1	248			Missing (in 50% of the molecules).		activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|anti-apoptosis|cellular extravasation|defense response to Gram-negative bacterium|glial cell migration|induction of positive chemotaxis|inflammatory response|macrophage chemotaxis|microglial cell activation|monocyte activation|positive regulation of cell adhesion|positive regulation of fractalkine biosynthetic process|positive regulation of interleukin-1 beta biosynthetic process|positive regulation of MHC class II biosynthetic process|positive regulation of phagocytosis|positive regulation of tumor necrosis factor biosynthetic process|proteolysis|regulation of vascular permeability	azurophil granule|extracellular region	heparin binding|serine-type endopeptidase activity|toxin binding			NS(1)|endometrium(1)|kidney(1)|lung(4)|pancreas(1)|upper_aerodigestive_tract(2)	10		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;0.000172)|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)		ACCCGGGACCGGGGCCAGCCT	0.711													A	831865	G	A	831865	2	1	789	1	0	0	0	0	0	0	0	1	1248	1103	39	1		1	AZU1	19	831865	Silent	SNP	G	TCGA-WH-A86K-01A-11D-A36O-08		831865	58297118	42	58202											
MEGF8	1954	broad.mit.edu	37	chr19	42873083	42873083	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aacgggcaccacgactgcaaCgagacgcagaattgccacga	14	3	11	13	5	0	2	0	0	0	2	0	5	0	2	2	1	4	3	2	1	3	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:42873083C>T	ENST00000334370.4	+	36	7004	c.6369C>T	c.(6367-6369)aaC>aaT	p.N2123N	MEGF8_ENST00000251268.6_Silent_p.N2190N	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	2190	PSI 7.					integral to membrane	calcium ion binding|structural molecule activity			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				ACGACTGCAACGAGACGCAGA	0.672													T	42873083	C	T	42873083	2	4	789	1	0	0	0	0	0	0	0	1	9538	535	19	1		1	MEGF8	19	42873083	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	42041218	42873083	16255900	43	58203											
SYT3	84258	broad.mit.edu	37	chr19	51132650	51132650	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	acctggccgatgaggtcgtgCcgcgagaagcggtcaaagtc	9	6	15	11	5	1	2	1	1	0	1	3	4	1	2	3	3	2	0	3	3	2	0			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:51132650C>T	ENST00000338916.4	-	4	1815	c.1182G>A	c.(1180-1182)cgG>cgA	p.R394R	SYT3_ENST00000593901.1_Silent_p.R394R|SYT3_ENST00000600079.1_Silent_p.R394R|SYT3_ENST00000544769.1_Silent_p.R394R	NM_032298.2	NP_115674.1	Q9BQG1	SYT3_HUMAN	synaptotagmin III	394	C2 1.					cell junction|endosome|integral to membrane|synaptic vesicle membrane	metal ion binding|transporter activity			breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(2)|skin(3)|urinary_tract(2)	35		all_neural(266;0.131)		OV - Ovarian serous cystadenocarcinoma(262;0.00462)|GBM - Glioblastoma multiforme(134;0.0188)		TGAGGTCGTGCCGCGAGAAGC	0.642													T	51132650	C	T	51132650	2	4	789	1	0	0	0	0	0	0	0	1	15572	726	26	2		2	SYT3	19	51132650	Silent	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08	8259567	51132650	7996333	44	58204											
ZNF808	388558	broad.mit.edu	37	chr19	53057655	53057655	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaagaccttcagccgcaggTcatcccttctatgccatcgt	8	10	8	15	2	3	1	2	0	1	1	5	1	4	1	4	1	2	2	4	1	2	3			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chr19:53057655T>C	ENST00000359798.4	+	5	1666	c.1486T>C	c.(1486-1488)Tca>Cca	p.S496P		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	496					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		CAGCCGCAGGTCATCCCTTCT	0.458													C	53057655	T	C	53057655	3	2	789	1	0	0	0	0	1	0	0	0	18272	1667	58	3	1496	3	ZNF808	19	53057655	Missense_Mutation	SNP	T	TCGA-WH-A86K-01A-11D-A36O-08	1925005	53057655	6071328	45	58205											
MID2	11043	broad.mit.edu	37	chrX	107084269	107084269	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgagagccgccgggaaaggaCttacaggcccaccactgcca	11	4	12	14	2	0	1	0	1	0	1	0	4	0	3	5	3	3	0	5	3	2	1			TCGA-WH-A86K-01A-11D-A36O-08	TCGA-WH-A86K-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0bdfdc5a-8ddf-423d-80c3-d5c5e8941145	ed670b4f-21e6-4c0b-b12c-39158a1921b6	g.chrX:107084269C>G	ENST00000262843.6	+	2	922	c.374C>G	c.(373-375)aCt>aGt	p.T125S	MID2_ENST00000443968.2_Missense_Mutation_p.T125S	NM_012216.3|NM_052817.2	NP_036348.2|NP_438112.2	Q9UJV3	TRIM1_HUMAN	midline 2	125						centrosome|microtubule	ligase activity|zinc ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(2)	19						CGGGAAAGGACTTACAGGCCC	0.537													G	107084269	C	G	107084269	3	3	789	1	0	0	0	0	1	0	0	0	9653	565	20	4	380	4	MID2	23	107084269	Missense_Mutation	SNP	C	TCGA-WH-A86K-01A-11D-A36O-08		107084269	48186291	46	58206											
CCDC27	148870	broad.mit.edu	37	chr1	3679740	3679740	+	Frame_Shift_Del	DEL	G	G	-																															ggaggtggcgaggaggacgaGggcctggaaggggagcccga																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:3679740delG	ENST00000294600.2	+	7	1107	c.1023delG	c.(1021-1023)gagfs	p.E341fs		NM_152492.2	NP_689705.2	Q2M243	CCD27_HUMAN	coiled-coil domain containing 27	341	Glu-rich.									breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(2)|lung(17)|prostate(1)|skin(2)|urinary_tract(2)	36	all_cancers(77;0.0385)|Ovarian(185;0.0634)|Lung NSC(156;0.21)|all_lung(157;0.218)	all_epithelial(116;5.52e-17)|all_lung(118;1.04e-06)|Lung NSC(185;0.000214)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0218)|Lung SC(97;0.0367)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.127)		Epithelial(90;1.11e-38)|OV - Ovarian serous cystadenocarcinoma(86;1.35e-22)|GBM - Glioblastoma multiforme(42;3.46e-16)|Colorectal(212;1.17e-05)|COAD - Colon adenocarcinoma(227;5.76e-05)|Kidney(185;0.00036)|BRCA - Breast invasive adenocarcinoma(365;0.000696)|KIRC - Kidney renal clear cell carcinoma(229;0.00558)|STAD - Stomach adenocarcinoma(132;0.00645)|Lung(427;0.203)		AGGAGGACGAGGGCCTGGAAG	0.677													-	3679740	G	-	3679740	7	5	790	1	0	1	0	1	0	0	0	0	2828	991	35	0	1049	0	CCDC27	1	3679740	Frame_Shift_Del	DEL	G	TCGA-WY-A858-01A-11D-A36O-08		3679740	245570881	1	58207											
RAD54L	8438	broad.mit.edu	37	chr1	46743501	46743503	+	In_Frame_Del	DEL	GAG	GAG	-																															ttccccaggcagggaccattGaggagaagatcttccagcgt																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:46743501_46743503delGAG	ENST00000371975.4	+	17	2556_2558	c.1882_1884delGAG	c.(1882-1884)gagdel	p.E629del	RAD54L_ENST00000442598.1_In_Frame_Del_p.E629del	NM_003579.3	NP_003570.2	Q92698	RAD54_HUMAN	RAD54-like (S. cerevisiae)	629	Helicase C-terminal.				meiosis	nucleus	ATP binding|DNA binding|helicase activity			breast(2)|cervix(1)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	25	Acute lymphoblastic leukemia(166;0.155)	Breast(1374;0.0634)		KIRC - Kidney renal clear cell carcinoma(1967;0.000896)		AGGGACCATTGAGGAGAAGATCT	0.527								Direct reversal of damage;Homologous recombination					-	46743503	GAG	-	46743501	7	5	790	1	0	1	0	1	0	0	0	0	13081	1291	45	0	1948	0	RAD54L	1	46743501	In_Frame_Del	DEL	GAG	TCGA-WY-A858-01A-11D-A36O-08	43063761	46743501	202507120	2	58208											
LGALS8	3964	broad.mit.edu	37	chr1	236700805	236700805	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tttttttcttaggtaatcccGtttgttggcaccattcctga	6	19	7	9	1	1	1	0	1	1	0	3	1	3	1	3	2	0	4	3	2	2	8			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr1:236700805G>A	ENST00000526589.1	+	6	574	c.54G>A	c.(52-54)ccG>ccA	p.P18P	LGALS8_ENST00000352231.2_Silent_p.P18P|LGALS8_ENST00000526634.1_Silent_p.P18P|LGALS8_ENST00000416919.2_Silent_p.P18P|LGALS8_ENST00000366584.4_Silent_p.P18P|LGALS8_ENST00000341872.6_Silent_p.P18P|LGALS8_ENST00000527974.1_Silent_p.P18P|LGALS8_ENST00000323938.6_Silent_p.P18P|LGALS8_ENST00000450372.2_Silent_p.P18P|LGALS8_ENST00000525042.1_Silent_p.P18P			O00214	LEG8_HUMAN	lectin, galactoside-binding, soluble, 8	18						cytoplasm|extracellular space	sugar binding			kidney(1)|large_intestine(5)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(5)	20	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.0253)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00117)			AGGTAATCCCGTTTGTTGGCA	0.368													A	236700805	G	A	236700805	2	1	790	1	0	0	0	0	0	0	0	1	8807	1132	40	1		1	LGALS8	1	236700805	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	189957304	236700805	12549816	3	58209											
TTN	7273	broad.mit.edu	37	chr2	179419409	179419409	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ccatcatcagctggaggccgCcagagaagggtgatcttctc	9	8	12	12	1	4	2	2	1	2	1	5	4	4	3	3	3	1	1	3	3	1	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr2:179419409C>G	ENST00000589042.1	-	332	88889	c.88665G>C	c.(88663-88665)tgG>tgC	p.W29555C	TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.W20682C|TTN_ENST00000460472.2_Missense_Mutation_p.W20490C|TTN_ENST00000591111.1_Missense_Mutation_p.W27914C|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.W20615C|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.W26987C|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	27914	Fibronectin type-III 115.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGGAGGCCGCCAGAGAAGGG	0.473													G	179419409	C	G	179419409	3	3	790	1	0	0	0	0	1	0	0	0	16837	740	26	4	19438	4	TTN	2	179419409	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		179419409	63779964	4	58210											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	790	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	29693703	209113112	34086261	5	58211											
NGLY1	55768	broad.mit.edu	37	chr3	25792628	25792628	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcgataacttttcttgtgAtttcctttttagttcttgga	6	22	6	7	1	3	1	0	1	3	0	5	3	4	2	1	1	1	1	1	1	2	10			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:25792628A>G	ENST00000428257.1	-	4	726	c.619T>C	c.(619-621)Tca>Cca	p.S207P	NGLY1_ENST00000280700.5_Missense_Mutation_p.S207P|NGLY1_ENST00000422724.2_Missense_Mutation_p.S130P|NGLY1_ENST00000417874.2_Missense_Mutation_p.S165P|NGLY1_ENST00000396649.3_Missense_Mutation_p.S207P	NM_001145293.1	NP_001138765.1	Q96IV0	NGLY1_HUMAN	N-glycanase 1	207					glycoprotein catabolic process	cytoplasm	metal ion binding|peptide-N4-(N-acetyl-beta-glucosaminyl)asparagine amidase activity|protein binding			breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)	18						TTTTCTTGTGATTTCCTTTTT	0.348													G	25792628	A	G	25792628	3	3	790	1	0	0	0	0	1	0	0	0	10474	333	12	3	1477	3	NGLY1	3	25792628	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		25792628	172229802	6	58212											
KIF9	64147	broad.mit.edu	37	chr3	47307320	47307320	+	Silent	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	atggcctgctccaggaatgaGagcgatttgttgatgtaggt	9	12	14	6	1	0	2	0	2	0	1	1	5	1	3	2	3	2	3	2	3	2	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47307320G>C	ENST00000335044.2	-	8	1173	c.816C>G	c.(814-816)ctC>ctG	p.L272L	KIF9_ENST00000452770.2_Silent_p.L272L|KIF9_ENST00000444589.2_Silent_p.L272L|KIF9_ENST00000265529.3_Silent_p.L272L|KIF9_ENST00000487440.1_5'UTR|KIF9_ENST00000352910.4_Silent_p.L179L	NM_001134878.1|NM_182902.3	NP_001128350.1|NP_878905.2	Q9HAQ2	KIF9_HUMAN	kinesin family member 9	272					blood coagulation|microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity			central_nervous_system(1)|endometrium(2)|large_intestine(8)|lung(15)|skin(4)|stomach(2)|upper_aerodigestive_tract(2)	34		Acute lymphoblastic leukemia(5;0.164)		BRCA - Breast invasive adenocarcinoma(193;0.000284)|KIRC - Kidney renal clear cell carcinoma(197;0.00609)|Kidney(197;0.007)		CCAGGAATGAGAGCGATTTGT	0.542													C	47307320	G	C	47307320	2	2	790	1	0	0	0	0	0	0	0	1	8368	929	33	4		4	KIF9	3	47307320	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	21514692	47307320	150715110	7	58213											
PTPN23	25930	broad.mit.edu	37	chr3	47450743	47450743	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtccctggagcagcagctgcGtgagcttatccagaaagatg	10	8	13	10	1	0	3	0	1	0	2	2	4	2	4	2	1	5	4	2	1	2	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:47450743G>A	ENST00000265562.4	+	17	1810	c.1733G>A	c.(1732-1734)cGt>cAt	p.R578H	PTPN23_ENST00000431726.1_Missense_Mutation_p.R452H	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	578					cilium morphogenesis	cilium|cytoplasmic membrane-bounded vesicle|microtubule basal body	protein tyrosine phosphatase activity			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CAGCAGCTGCGTGAGCTTATC	0.602													A	47450743	G	A	47450743	3	1	790	1	0	0	0	0	1	0	0	0	12876	1145	40	1	1799	1	PTPN23	3	47450743	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	143423	47450743	150571687	8	58214											
ALCAM	214	broad.mit.edu	37	chr3	105266056	105266057	+	Frame_Shift_Del	DEL	TA	TA	-																															attatcaggatgctggaaacTatgtctgcgaaactgctctg																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:105266056_105266057delTA	ENST00000306107.5	+	10	1668_1669	c.1168_1169delTA	c.(1168-1170)tatfs	p.Y390fs	ALCAM_ENST00000472644.2_Frame_Shift_Del_p.Y390fs|ALCAM_ENST00000389927.4_Frame_Shift_Del_p.Y112fs|ALCAM_ENST00000486979.2_Frame_Shift_Del_p.Y339fs	NM_001627.3	NP_001618.2	Q13740	CD166_HUMAN	activated leukocyte cell adhesion molecule	390	Ig-like C2-type 2.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	28						TGCTGGAAACTATGTCTGCGAA	0.381													-	105266057	TA	-	105266056	7	5	790	1	0	1	0	1	0	0	0	0	487	1522	53	0	1206	0	ALCAM	3	105266056	Frame_Shift_Del	DEL	TA	TCGA-WY-A858-01A-11D-A36O-08	57815313	105266056	92756374	9	58215											
HHLA2	11148	broad.mit.edu	37	chr3	108072600	108072603	+	Frame_Shift_Del	DEL	ACAA	ACAA	-																															gaacagcaattcaagtgattAcaaacaaagtggtgctaaag																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr3:108072600_108072603delACAA	ENST00000357759.5	+	4	805_808	c.391_394delACAA	c.(391-396)acaaacfs	p.TN131fs	HHLA2_ENST00000467761.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000491820.1_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000489514.2_Frame_Shift_Del_p.TN131fs|HHLA2_ENST00000467562.1_Frame_Shift_Del_p.TN67fs	NM_007072.2	NP_009003.1	Q9UM44	HHLA2_HUMAN	HERV-H LTR-associating 2	131	Ig-like V-type 1.					integral to membrane				endometrium(2)|large_intestine(1)|lung(14)|ovary(1)	18						TCAAGTGATTACAAACAAAGTGGT	0.382													-	108072603	ACAA	-	108072600	7	5	790	1	0	1	0	1	0	0	0	0	7150	391	14	0	397	0	HHLA2	3	108072600	Frame_Shift_Del	DEL	ACAA	TCGA-WY-A858-01A-11D-A36O-08	2806544	108072600	89949830	10	58216											
SNX25	83891	broad.mit.edu	37	chr4	186267775	186267775	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcaaaagtttatggaaaagTcgaagaatcaattaaataag	21	10	7	3	1	2	1	2	0	0	1	3	3	2	2	0	1	0	1	0	1	11	4			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr4:186267775T>C	ENST00000504273.1	+	13	2074	c.1780T>C	c.(1780-1782)Tcg>Ccg	p.S594P	SNX25_ENST00000264694.8_Missense_Mutation_p.S594P|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	594	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		TATGGAAAAGTCGAAGAATCA	0.338													C	186267775	T	C	186267775	3	2	790	1	0	0	0	0	1	0	0	0	14990	1667	58	3	1826	3	SNX25	4	186267775	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		186267775	4886501	11	58217											
VNN1	8876	broad.mit.edu	37	chr6	133032924	133032924	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atatgggtagagagagtcccTgttgaagttccagccataaa	13	10	11	7	0	0	3	0	1	0	2	2	4	2	3	3	1	1	3	3	1	5	5			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr6:133032924T>C	ENST00000367928.4	-	2	278	c.265A>G	c.(265-267)Agg>Ggg	p.R89G		NM_004666.2	NP_004657.2	O95497	VNN1_HUMAN	vanin 1	89	CN hydrolase.				acute inflammatory response|anti-apoptosis|cell-cell adhesion|cellular component movement|chronic inflammatory response|innate immune response|pantothenate metabolic process|positive regulation of T cell differentiation in thymus|response to oxidative stress	anchored to membrane|integral to membrane|plasma membrane	GPI anchor binding|pantetheine hydrolase activity			NS(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(10)|ovary(4)|prostate(1)|upper_aerodigestive_tract(1)	31	Breast(56;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.0027)|GBM - Glioblastoma multiforme(226;0.0189)		AGAGAGTCCCTGTTGAAGTTC	0.433													C	133032924	T	C	133032924	3	2	790	1	0	0	0	0	1	0	0	0	17284	1579	55	3	1300	3	VNN1	6	133032924	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		133032924	38082143	12	58218											
FBXO24	26261	broad.mit.edu	37	chr7	100189399	100189399	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgcttcttgcccaccaaggaTcacgtcttcattcttgacta	8	13	6	14	2	5	1	2	1	3	0	5	2	5	2	2	1	1	1	2	1	2	6			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr7:100189399T>C	ENST00000241071.6	+	4	754	c.432T>C	c.(430-432)gaT>gaC	p.D144D	FBXO24_ENST00000465843.1_Silent_p.D130D|FBXO24_ENST00000468962.1_Silent_p.D132D|FBXO24_ENST00000427939.2_Silent_p.D182D|FBXO24_ENST00000498195.1_3'UTR|PCOLCE-AS1_ENST00000442166.2_RNA|FBXO24_ENST00000360609.2_Silent_p.D130D	NM_033506.2	NP_277041.1	O75426	FBX24_HUMAN	F-box protein 24	144						ubiquitin ligase complex	ubiquitin-protein ligase activity			NS(2)|breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(3)|ovary(3)|skin(4)|urinary_tract(2)	28	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					CCACCAAGGATCACGTCTTCA	0.602													C	100189399	T	C	100189399	2	2	790	1	0	0	0	0	0	0	0	1	5784	1432	50	3		3	FBXO24	7	100189399	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		100189399	58949264	13	58219											
MTMR9	66036	broad.mit.edu	37	chr8	11180232	11180232	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ataaagaattacaagcaaaaGtcaatatccttcgaaggcag	19	8	7	7	1	1	1	1	0	0	1	3	2	2	1	1	1	2	2	1	1	10	4			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:11180232G>A	ENST00000221086.3	+	10	2058	c.1585G>A	c.(1585-1587)Gtc>Atc	p.V529I	AF131216.6_ENST00000498997.2_RNA|MTMR9_ENST00000526292.1_Missense_Mutation_p.V444I	NM_015458.3	NP_056273.2	Q96QG7	MTMR9_HUMAN	myotubularin related protein 9	529						cytoplasm	phosphatase activity|protein binding			cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	16			STAD - Stomach adenocarcinoma(15;0.215)	COAD - Colon adenocarcinoma(149;0.0678)		ACAAGCAAAAGTCAATATCCT	0.418													A	11180232	G	A	11180232	3	1	790	1	0	0	0	0	1	0	0	0	10026	1029	36	2	1623	2	MTMR9	8	11180232	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08		11180232	135183790	14	58220											
BAI1	575	broad.mit.edu	37	chr8	143603376	143603378	+	In_Frame_Del	DEL	CTT	CTT	-																															cacttcttcttcctgtcctcCttctgctgggtgctcaccga																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr8:143603376_143603378delCTT	ENST00000517894.1	+	21	3969_3971	c.3075_3077delCTT	c.(3073-3078)tccttc>tcc	p.F1026del	BAI1_ENST00000323289.5_In_Frame_Del_p.F1026del			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1026					axonogenesis|cell adhesion|negative regulation of angiogenesis|negative regulation of cell proliferation|neuropeptide signaling pathway|peripheral nervous system development	cell-cell junction|integral to plasma membrane	G-protein coupled receptor activity|protein binding			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					TCCTGTCCTCCTTCTGCTGGGTG	0.695													-	143603378	CTT	-	143603376	7	5	790	1	0	1	0	1	0	0	0	0	1303	668	24	0	3153	0	BAI1	8	143603376	In_Frame_Del	DEL	CTT	TCGA-WY-A858-01A-11D-A36O-08	132423144	143603376	2760646	15	58221											
RPL35	11224	broad.mit.edu	37	chr9	127623796	127623798	+	In_Frame_Del	DEL	CTT	CTT	-																															agctgtttcagcagctcctcCttcttcttcccgcgaagatc																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr9:127623796_127623798delCTT	ENST00000373570.4	-	2	42_44	c.40_42delAAG	c.(40-42)aagdel	p.K14del	RPL35_ENST00000348462.3_In_Frame_Del_p.K14del			P42766	RL35_HUMAN	ribosomal protein L35	14					endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosolic large ribosomal subunit|nucleolus	mRNA binding|protein binding|structural constituent of ribosome			breast(1)|large_intestine(1)|lung(1)|ovary(1)	4				GBM - Glioblastoma multiforme(294;0.182)		GCAGCTCCTCCTTCTTCTTCCCG	0.621													-	127623798	CTT	-	127623796	7	5	790	1	0	1	0	1	0	0	0	0	13675	680	24	0	341	0	RPL35	9	127623796	In_Frame_Del	DEL	CTT	TCGA-WY-A858-01A-11D-A36O-08		127623796	13589635	16	58222											
MRC1	4360	broad.mit.edu	37	chr10	17891628	17891628	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagtcagtggtggccgtatgCcggtcactgttacaagattc	8	12	12	9	2	2	1	2	0	0	1	3	1	2	1	2	3	2	2	2	3	4	4			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:17891628C>T	ENST00000331429.2	+	7	1212	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	MRC1L1_ENST00000457317.1_Missense_Mutation_p.A370V																breast(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						TGGCCGTATGCCGGTCACTGT	0.443													T	17891628	C	T	17891628	3	4	790	1	0	0	0	0	1	0	0	0	9832	739	26	2	1135	2	MRC1	10	17891628	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		17891628	117643119	17	58223											
AGAP6	414189	broad.mit.edu	37	chr10	51769588	51769588	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agagaaggaacggtggatccGttccaaatatgaggagaagc	15	6	14	6	2	0	3	0	1	0	2	2	7	2	5	2	4	2	1	2	4	5	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr10:51769588G>A	ENST00000374056.4	+	7	2032	c.1634G>A	c.(1633-1635)cGt>cAt	p.R545H	AGAP6_ENST00000412531.3_Missense_Mutation_p.R568H			C9IYN2	C9IYN2_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 6	568					regulation of ARF GTPase activity		ARF GTPase activator activity|zinc ion binding			NS(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(1)|lung(8)|prostate(3)|skin(1)|stomach(2)	29						CGGTGGATCCGTTCCAAATAT	0.577													A	51769588	G	A	51769588	3	1	790	1	0	0	0	0	1	0	0	0	372	1145	40	1	1733	1	AGAP6	10	51769588	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	33877960	51769588	83765159	18	58224											
COL2A1	1280	broad.mit.edu	37	chr12	48373309	48373309	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttacattggagcctgggggTccaacgcggccagcagctcc	7	7	13	14	2	0	0	0	0	0	0	2	1	2	1	4	4	5	2	4	4	2	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:48373309T>C	ENST00000380518.3	-	41	2882	c.2718A>G	c.(2716-2718)ggA>ggG	p.G906G	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Silent_p.G837G	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	906	Triple-helical region.				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AGCCTGGGGGTCCAACGCGGC	0.602													C	48373309	T	C	48373309	2	2	790	1	0	0	0	0	0	0	0	1	3718	1654	58	3		3	COL2A1	12	48373309	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		48373309	85478586	19	58225											
OR6C3	254786	broad.mit.edu	37	chr12	55725991	55725991	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctggattactgtgcttccaaCgtcattgatcactttgcatg	8	15	8	10	1	2	1	2	1	0	0	3	2	3	2	1	1	4	2	1	1	2	4			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:55725991C>T	ENST00000379667.1	+	1	507	c.507C>T	c.(505-507)aaC>aaT	p.N169N		NM_054104.1	NP_473445.1	Q9NZP0	OR6C3_HUMAN	olfactory receptor, family 6, subfamily C, member 3	169					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(2)	11						GTGCTTCCAACGTCATTGATC	0.433													T	55725991	C	T	55725991	2	4	790	1	0	0	0	0	0	0	0	1	11268	535	19	1		1	OR6C3	12	55725991	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7352682	55725991	78125904	20	58226											
BAZ2A	11176	broad.mit.edu	37	chr12	56998880	56998880	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	acagtaggagggaaagccagGatcatggagtgcagccttca	13	6	14	8	0	2	0	2	0	0	0	2	4	2	4	2	4	3	2	2	4	2	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:56998880G>A	ENST00000179765.5	-	15	2834	c.2635C>T	c.(2635-2637)Cct>Tct	p.P879S	BAZ2A_ENST00000549884.1_Missense_Mutation_p.P909S|BAZ2A_ENST00000379441.3_Missense_Mutation_p.P881S|BAZ2A_ENST00000551812.1_Missense_Mutation_p.P911S			Q9UIF9	BAZ2A_HUMAN	bromodomain adjacent to zinc finger domain, 2A	911	DDT.				chromatin silencing at rDNA|DNA methylation|transcription, DNA-dependent	chromatin silencing complex|nucleolus|rDNA heterochromatin	DNA binding|histone acetyl-lysine binding|ligand-dependent nuclear receptor binding|RNA binding|zinc ion binding			breast(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(15)|urinary_tract(1)	31						GGAAAGCCAGGATCATGGAGT	0.522													A	56998880	G	A	56998880	3	1	790	1	0	0	0	0	1	0	0	0	1336	1174	41	2	3050	2	BAZ2A	12	56998880	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1272889	56998880	76853015	21	58227											
PLXNC1	10154	broad.mit.edu	37	chr12	94673311	94673314	+	Frame_Shift_Del	DEL	TCAG	TCAG	-																															cagatgtctgtcggaatattTcagtcaatgttctcgactgt																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr12:94673311_94673314delTCAG	ENST00000258526.4	+	22	3910_3913	c.3661_3664delTCAG	c.(3661-3666)tcagtcfs	p.SV1221fs	PLXNC1_ENST00000545312.1_5'UTR|RP11-1105G2.3_ENST00000551941.1_Intron|PLXNC1_ENST00000547057.1_Frame_Shift_Del_p.SV268fs	NM_005761.2	NP_005752.1	O60486	PLXC1_HUMAN	plexin C1	1221					axon guidance|cell adhesion	integral to membrane|intracellular|plasma membrane	receptor activity|receptor binding			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(12)|lung(30)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TCGGAATATTTCAGTCAATGTTCT	0.402													-	94673314	TCAG	-	94673311	7	5	790	1	0	1	0	1	0	0	0	0	12203	1783	62	0	3747	0	PLXNC1	12	94673311	Frame_Shift_Del	DEL	TCAG	TCGA-WY-A858-01A-11D-A36O-08	37674431	94673311	39178584	22	58228											
FLT1	2321	broad.mit.edu	37	chr13	29041202	29041202	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccacaggcagatttagttaTgctcagcctttcgctttcct	7	15	7	12	1	1	1	1	0	0	1	4	1	3	1	3	1	2	4	3	1	2	5			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:29041202T>C	ENST00000282397.4	-	3	477	c.226A>G	c.(226-228)Ata>Gta	p.I76V	FLT1_ENST00000539099.1_Missense_Mutation_p.I76V|FLT1_ENST00000541932.1_Missense_Mutation_p.I76V	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	76	Ig-like C2-type 1.				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Sunitinib(DB01268)	GATTTAGTTATGCTCAGCCTT	0.418													C	29041202	T	C	29041202	3	2	790	1	0	0	0	0	1	0	0	0	5990	1464	51	3	4165	3	FLT1	13	29041202	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		29041202	86128676	23	58229											
GPR18	2841	broad.mit.edu	37	chr13	99908051	99908051	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatacagctatagaagacaaGggctgcaattttgtattcat	14	12	9	6	0	1	2	1	0	0	2	1	3	1	2	0	1	3	4	0	1	7	7			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr13:99908051G>A	ENST00000340807.3	-	3	632	c.76C>T	c.(76-78)Ctt>Ttt	p.L26F	GPR18_ENST00000397473.2_Missense_Mutation_p.L26F|UBAC2_ENST00000403766.3_Intron|UBAC2_ENST00000376440.2_Intron|GPR18_ENST00000397470.2_Missense_Mutation_p.L26F			Q14330	GPR18_HUMAN	G protein-coupled receptor 18	26						integral to membrane|plasma membrane	purinergic nucleotide receptor activity, G-protein coupled			endometrium(2)|large_intestine(2)|lung(6)	10	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)				Glycine(DB00145)	TAGAAGACAAGGGCTGCAATT	0.388													A	99908051	G	A	99908051	3	1	790	1	0	0	0	0	1	0	0	0	6729	1000	35	2	923	2	GPR18	13	99908051	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	70866849	99908051	15261827	24	58230											
SMOC1	64093	broad.mit.edu	37	chr14	70442502	70442502	+	Frame_Shift_Del	DEL	C	C	-																															gaagcccatcagtggctcttCtgtgcagaataaaactcctg																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:70442502delC	ENST00000381280.4	+	4	702	c.449delC	c.(448-450)tctfs	p.S150fs	SMOC1_ENST00000361956.3_Frame_Shift_Del_p.S150fs	NM_001034852.2|NM_022137.5	NP_001030024.1|NP_071420.1	Q9H4F8	SMOC1_HUMAN	SPARC related modular calcium binding 1	150	Thyroglobulin type-1 1.				cell differentiation|eye development|limb development|regulation of osteoblast differentiation|signal transduction	basement membrane	calcium ion binding	p.S150F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	21				all cancers(60;0.00417)|BRCA - Breast invasive adenocarcinoma(234;0.0119)|OV - Ovarian serous cystadenocarcinoma(108;0.028)		AGTGGCTCTTCTGTGCAGAAT	0.522													-	70442502	C	-	70442502	7	5	790	1	0	1	0	1	0	0	0	0	14895	913	32	0	463	0	SMOC1	14	70442502	Frame_Shift_Del	DEL	C	TCGA-WY-A858-01A-11D-A36O-08		70442502	36907038	25	58231											
SNW1	22938	broad.mit.edu	37	chr14	78197382	78197382	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tctctccctggctttctgggCcatttctctaagtttctctt	3	19	6	13	0	4	0	0	0	4	0	8	0	5	0	2	2	0	2	2	2	1	5			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:78197382C>T	ENST00000261531.7	-	10	1044	c.982G>A	c.(982-984)Gcc>Acc	p.A328T	SNW1_ENST00000554775.1_Missense_Mutation_p.A166T|SNW1_ENST00000555761.1_Missense_Mutation_p.A328T|SLIRP_ENST00000557431.1_Intron	NM_012245.2	NP_036377.1	Q13573	SNW1_HUMAN	SNW domain containing 1	328	SNW.				negative regulation of transcription, DNA-dependent|nuclear mRNA splicing, via spliceosome|regulation of transcription from RNA polymerase II promoter	catalytic step 2 spliceosome|nucleoplasm	Notch binding			NS(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	24			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0291)		GCTTTCTGGGCCATTTCTCTA	0.403													T	78197382	C	T	78197382	3	4	790	1	0	0	0	0	1	0	0	0	14973	739	26	2	648	2	SNW1	14	78197382	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7754880	78197382	29152158	26	58232											
DEGS2	123099	broad.mit.edu	37	chr14	100615600	100615600	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggtcacggccttggggtggAcgcagagcggccgtagtgag	6	6	20	9	4	1	2	1	1	0	1	1	3	1	3	2	6	1	2	2	6	1	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr14:100615600A>G	ENST00000305631.5	-	2	1105	c.530T>C	c.(529-531)gTc>gCc	p.V177A	DEGS2_ENST00000553834.1_Intron|DEGS2_ENST00000557117.1_5'UTR	NM_206918.2	NP_996801.2	Q6QHC5	DEGS2_HUMAN	delta(4)-desaturase, sphingolipid 2	177					fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to membrane	sphingosine hydroxylase activity			breast(1)|lung(6)|skin(1)	8		Melanoma(154;0.212)				CTTGGGGTGGACGCAGAGCGG	0.667													G	100615600	A	G	100615600	3	3	790	1	0	0	0	0	1	0	0	0	4462	275	10	3	449	3	DEGS2	14	100615600	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08	22418218	100615600	6733940	27	58233											
SLC28A2	9153	broad.mit.edu	37	chr15	45554261	45554261	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaagtttctgcaaaacacaCgccagcttgttcaagaagat	15	9	8	9	1	2	3	1	0	1	3	2	3	2	3	1	0	3	4	1	0	5	3	rs59889218		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:45554261C>T	ENST00000347644.3	+	4	284	c.219C>T	c.(217-219)caC>caT	p.H73H	CTD-2651B20.3_ENST00000561404.1_RNA|CTD-2651B20.3_ENST00000560344.1_RNA	NM_004212.3	NP_004203.2	O43868	S28A2_HUMAN	solute carrier family 28 (concentrative nucleoside transporter), member 2	73					nucleobase, nucleoside and nucleotide metabolic process	integral to plasma membrane|membrane fraction	nucleoside binding|nucleoside:sodium symporter activity|purine nucleoside transmembrane transporter activity			NS(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(4)|skin(1)	26		all_cancers(109;8.53e-07)|all_epithelial(112;1.39e-05)|Lung NSC(122;8.3e-05)|all_lung(180;0.000547)|Melanoma(134;0.0417)		all cancers(107;3.77e-16)|GBM - Glioblastoma multiforme(94;2.71e-06)		GCAAAACACACGCCAGCTTGT	0.393													T	45554261	C	T	45554261	2	4	790	1	0	0	0	0	0	0	0	1	14626	535	19	1		1	SLC28A2	15	45554261	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08		45554261	56977131	28	58234											
DTWD1	56986	broad.mit.edu	37	chr15	49935734	49935734	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accagttgataaagaatgccAaatgctctggagataaggaa	17	8	10	6	0	1	3	0	1	1	2	1	5	1	4	2	2	2	2	2	2	6	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:49935734A>G	ENST00000251250.6	+	6	1081	c.874A>G	c.(874-876)Aaa>Gaa	p.K292E	DTWD1_ENST00000558653.1_Missense_Mutation_p.K292E|DTWD1_ENST00000403028.3_Missense_Mutation_p.K292E|DTWD1_ENST00000415425.1_Missense_Mutation_p.K205E	NM_020234.5	NP_064619.2	Q8N5C7	DTWD1_HUMAN	DTW domain containing 1	292										endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)	9		all_lung(180;0.0384)		all cancers(107;3.27e-08)|GBM - Glioblastoma multiforme(94;7.6e-05)		AAAGAATGCCAAATGCTCTGG	0.289													G	49935734	A	G	49935734	3	3	790	1	0	0	0	0	1	0	0	0	4830	131	5	3	888	3	DTWD1	15	49935734	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08	4381473	49935734	52595658	29	58235											
CA12	771	broad.mit.edu	37	chr15	63637702	63637702	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggcgaagtgctgtccgctgaCggtgtgctcagagccgtgcg	5	8	17	11	5	1	2	1	1	0	1	2	3	2	2	2	2	4	3	2	2	1	0			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr15:63637702C>T	ENST00000178638.3	-	4	843	c.403G>A	c.(403-405)Gtc>Atc	p.V135I	CA12_ENST00000344366.3_Missense_Mutation_p.V135I|CA12_ENST00000422263.2_Missense_Mutation_p.V75I	NM_001218.3	NP_001209.1	O43570	CAH12_HUMAN	carbonic anhydrase XII	135					one-carbon metabolic process	integral to membrane	carbonate dehydratase activity|zinc ion binding			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|liver(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	16					Acetazolamide(DB00819)	TGTCCGCTGACGGTGTGCTCA	0.647													T	63637702	C	T	63637702	3	4	790	1	0	0	0	0	1	0	0	0	2539	536	19	1	693	1	CA12	15	63637702	Missense_Mutation	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	13701968	63637702	38893690	30	58236											
ITGAE	3682	broad.mit.edu	37	chr17	3653745	3653745	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tggacatgccgaagtactggAgtcctggggccaccgtggag	8	7	16	10	2	0	0	0	0	0	0	1	4	1	3	4	5	2	1	4	5	2	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:3653745A>G	ENST00000263087.4	-	16	2023	c.1925T>C	c.(1924-1926)cTc>cCc	p.L642P		NM_002208.4	NP_002199.3	P38570	ITAE_HUMAN	integrin, alpha E (antigen CD103, human mucosal lymphocyte antigen 1; alpha polypeptide)	642					cell adhesion|integrin-mediated signaling pathway	integrin complex	receptor activity			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(14)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41				UCEC - Uterine corpus endometrioid carcinoma (3;0.0813)		GAAGTACTGGAGTCCTGGGGC	0.632													G	3653745	A	G	3653745	3	3	790	1	0	0	0	0	1	0	0	0	7943	304	11	3	1678	3	ITGAE	17	3653745	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		3653745	77541465	31	58237											
PLD2	5338	broad.mit.edu	37	chr17	4718863	4718863	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	agcaagagggcgctgatgctGctgcaccccaacataaaggt	12	6	12	11	1	0	2	0	1	0	1	0	2	0	2	2	2	5	5	2	2	4	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:4718863G>A	ENST00000263088.6	+	13	1397	c.1266G>A	c.(1264-1266)ctG>ctA	p.L422L	PLD2_ENST00000572940.1_Silent_p.L422L	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	422					cell communication|cytoskeleton organization|small GTPase mediated signal transduction		NAPE-specific phospholipase D activity|phosphatidylinositol binding|phospholipase D activity			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	CGCTGATGCTGCTGCACCCCA	0.582											OREG0024105	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	4718863	G	A	4718863	2	1	790	1	0	0	0	0	0	0	0	1	12123	1306	46	2		2	PLD2	17	4718863	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1065118	4718863	76476347	32	58238											
TP53	7157	broad.mit.edu	37	chr17	7576897	7576897	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cagtggtttcttctttggctGgggagaggagctggtgttgt	4	15	17	5	0	2	1	0	0	2	1	2	3	2	2	0	6	1	4	0	6	0	4			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7576897G>A	ENST00000420246.2	-	9	1081	c.949C>T	c.(949-951)Cag>Tag	p.Q317*	TP53_ENST00000359597.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Nonsense_Mutation_p.Q317*|TP53_ENST00000269305.4_Nonsense_Mutation_p.Q317*|TP53_ENST00000445888.2_Nonsense_Mutation_p.Q317*	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	317	Interaction with CARM1.|Interaction with HIPK1 (By similarity).		Q -> H (in a kidney cancer with no family history; germline mutation and in a sporadic cancer; somatic mutation).|Q -> K (in sporadic cancers; somatic mutation).|Q -> L (in a sporadic cancer; somatic mutation).|Q -> P (in a sporadic cancer; somatic mutation).|Q -> R (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.Q317*(29)|p.0?(8)|p.Q317K(3)|p.S315fs*22(1)|p.?(1)|p.S314fs*25(1)|p.L308fs*15(1)|p.Q317fs*28(1)|p.Q317fs*45(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)		TTCTTTGGCTGGGGAGAGGAG	0.473		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)			A	7576897	G	A	7576897	4	1	790	1	0	0	0	0	0	1	0	0	16482	1357	47	2	333	2	TP53	17	7576897	Nonsense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	2858034	7576897	73618313	33	58239											
TP53	7157	broad.mit.edu	37	chr17	7578479	7578479	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gacgcgggtgccgggcggggGtgtggaatcaacccacagct	7	5	18	11	4	1	0	1	0	0	0	1	2	1	1	2	5	3	1	2	5	2	0	rs28934874		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:7578479G>A	ENST00000420246.2	-	5	583	c.451C>T	c.(451-453)Ccc>Tcc	p.P151S	TP53_ENST00000359597.4_Missense_Mutation_p.P151S|TP53_ENST00000413465.2_Missense_Mutation_p.P151S|TP53_ENST00000455263.2_Missense_Mutation_p.P151S|TP53_ENST00000269305.4_Missense_Mutation_p.P151S|TP53_ENST00000445888.2_Missense_Mutation_p.P151S	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	151	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		P -> A (in sporadic cancers; somatic mutation).|P -> H (in sporadic cancers; somatic mutation).|P -> L (in sporadic cancers; somatic mutation).|P -> R (in sporadic cancers; somatic mutation).|P -> S (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934874).|P -> T (in LFS; 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.P151S(68)|p.P151T(16)|p.P151A(13)|p.P152fs*18(9)|p.0?(8)|p.T150fs*16(6)|p.P151fs*30(6)|p.?(5)|p.P58A(2)|p.P58S(2)|p.P19A(2)|p.P19S(2)|p.P151_V173del23(1)|p.P152_P153del(1)|p.P152fs*28(1)|p.T57fs*16(1)|p.P151del(1)|p.D148_T155delDSTPPPGT(1)|p.T150_P153delTPPP(1)|p.D148fs*23(1)|p.S149fs*72(1)|p.P58T(1)|p.S149fs*17(1)|p.Q144_G154del11(1)|p.Q144fs*16(1)|p.P19T(1)|p.P152fs*14(1)|p.T18fs*16(1)|p.T150_P151delTP(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)		CCGGGCGGGGGTGTGGAATCA	0.612		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)			A	7578479	G	A	7578479	3	1	790	1	0	0	0	0	1	0	0	0	16482	1261	44	2	847	2	TP53	17	7578479	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	1582	7578479	73616731	34	58240											
MYH1	4619	broad.mit.edu	37	chr17	10411266	10411266	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttaccacctttctttccaccGccagcctctgaggggaaaaa	10	10	7	14	1	2	1	0	1	2	0	3	2	3	2	6	2	2	0	6	2	3	3	rs149473835	byFrequency	TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:10411266G>A	ENST00000226207.5	-	17	1999	c.1905C>T	c.(1903-1905)ggC>ggT	p.G635G	CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	635	Myosin head-like.					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						TCTTTCCACCGCCAGCCTCTG	0.383													A	10411266	G	A	10411266	2	1	790	1	0	0	0	0	0	0	0	1	10105	1074	38	1		1	MYH1	17	10411266	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	2832787	10411266	70783944	35	58241											
MKS1	54903	broad.mit.edu	37	chr17	56294063	56294063	+	Silent	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tcctgccacccaatcacaatCtcctcctcttcgtcttcctc	6	13	2	20	1	4	0	1	0	3	0	10	0	7	0	6	0	1	0	6	0	2	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:56294063C>T	ENST00000393119.2	-	3	299	c.225G>A	c.(223-225)gaG>gaA	p.E75E	MKS1_ENST00000546108.1_5'UTR|MKS1_ENST00000337050.7_Silent_p.E75E|MKS1_ENST00000537529.2_Silent_p.E65E|MKS1_ENST00000313863.6_Silent_p.E75E	NM_017777.3	NP_060247.2	Q9NXB0	MKS1_HUMAN	Meckel syndrome, type 1	75					cilium assembly	centrosome|cilium|microtubule basal body	protein binding			endometrium(5)|kidney(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	26						CAATCACAATCTCCTCCTCTT	0.502													T	56294063	C	T	56294063	2	4	790	1	0	0	0	0	0	0	0	1	9684	912	32	2		2	MKS1	17	56294063	Silent	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	45882797	56294063	24901147	36	58242											
APOH	350	broad.mit.edu	37	chr17	64224315	64224315	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcatctggcttgggacaggCtgaaagagggcacaaagcag	13	6	14	8	0	2	2	1	1	1	1	2	3	2	3	0	4	1	4	0	4	2	1	rs113836465		TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr17:64224315C>T	ENST00000205948.6	-	2	102		c.e2-1			NM_000042.2	NP_000033.2	P02749	APOH_HUMAN	apolipoprotein H (beta-2-glycoprotein I)						blood coagulation, intrinsic pathway|negative regulation of angiogenesis|negative regulation of blood coagulation|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of fibrinolysis|negative regulation of myeloid cell apoptosis|negative regulation of smooth muscle cell apoptosis|plasminogen activation|positive regulation of lipoprotein lipase activity|triglyceride metabolic process|triglyceride transport	cell surface|chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	eukaryotic cell surface binding|glycoprotein binding|heparin binding|lipoprotein lipase activator activity|phospholipid binding			central_nervous_system(1)|kidney(3)|large_intestine(5)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	17			BRCA - Breast invasive adenocarcinoma(6;9.74e-08)			TTGGGACAGGCTGAAAGAGGG	0.408													T	64224315	C	T	64224315	5	4	790	1	0	0	0	0	0	0	1	0	807	811	28	2	1001	2	APOH	17	64224315	Splice_Site	SNP	C	TCGA-WY-A858-01A-11D-A36O-08	7930252	64224315	16970895	37	58243											
SERPINB5	5268	broad.mit.edu	37	chr18	61154285	61154285	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgaaactaatcaagcggcTctacgtagacaaatctctga	15	9	7	10	2	3	3	1	2	2	1	4	3	3	3	0	1	3	2	0	1	6	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr18:61154285T>C	ENST00000382771.4	+	3	567	c.275T>C	c.(274-276)cTc>cCc	p.L92P	SERPINB5_ENST00000489441.1_Missense_Mutation_p.L92P	NM_002639.4	NP_002630.2	P36952	SPB5_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 5	92					cellular component movement|regulation of proteolysis	cytoplasm|extracellular space	protein binding|serine-type endopeptidase inhibitor activity			kidney(3)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)	12						ATCAAGCGGCTCTACGTAGAC	0.353													C	61154285	T	C	61154285	3	2	790	1	0	0	0	0	1	0	0	0	14197	1551	54	3	281	3	SERPINB5	18	61154285	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08		61154285	16922963	38	58244											
MADCAM1	8174	broad.mit.edu	37	chr19	498503	498503	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ccctccatcacagccttcccGgaccagctgaccgtctcccc	6	7	6	22	2	2	1	1	1	1	0	5	2	4	2	8	1	2	1	8	1	0	1			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:498503G>A	ENST00000215637.3	+	3	391	c.345G>A	c.(343-345)ccG>ccA	p.P115P	MADCAM1_ENST00000382683.4_Silent_p.P20P|MADCAM1_ENST00000587541.1_Intron|MADCAM1_ENST00000346144.4_Silent_p.P115P|AC005775.2_ENST00000592413.1_RNA	NM_130760.2	NP_570116.2	Q13477	MADCA_HUMAN	mucosal vascular addressin cell adhesion molecule 1	115	Ig-like 2.				cell adhesion|immune response|regulation of immune response|signal transduction	integral to membrane|membrane fraction|plasma membrane				central_nervous_system(1)|endometrium(1)|kidney(1)|lung(4)|prostate(1)|skin(2)	10		all_cancers(10;4.25e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-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)		CAGCCTTCCCGGACCAGCTGA	0.706													A	498503	G	A	498503	2	1	790	1	0	0	0	0	0	0	0	1	9222	1103	39	1		1	MADCAM1	19	498503	Silent	SNP	G	TCGA-WY-A858-01A-11D-A36O-08		498503	58630480	39	58245											
SMARCA4	6597	broad.mit.edu	37	chr19	11135109	11135111	+	In_Frame_Del	DEL	AAG	AAG	-																															ctgatggctccgagaaggacAagaaggtgggccccagagtc																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr19:11135109_11135111delAAG	ENST00000358026.2	+	21	3360_3362	c.3076_3078delAAG	c.(3076-3078)aagdel	p.K1027del	SMARCA4_ENST00000450717.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000444061.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000589677.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000344626.4_In_Frame_Del_p.K1027del|SMARCA4_ENST00000541122.2_In_Frame_Del_p.K1027del|SMARCA4_ENST00000590574.1_In_Frame_Del_p.K1027del|SMARCA4_ENST00000429416.3_In_Frame_Del_p.K1027del|SMARCA4_ENST00000413806.3_In_Frame_Del_p.K1027del	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	1027					chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				CGAGAAGGACAAGAAGGTGGGCC	0.626			"F, N, Mis"		NSCLC								-	11135111	AAG	-	11135109	7	5	790	1	0	1	0	1	0	0	0	0	14864	131	5	0	3154	0	SMARCA4	19	11135109	In_Frame_Del	DEL	AAG	TCGA-WY-A858-01A-11D-A36O-08	10636606	11135109	47993874	40	58246											
PARD6B	84612	broad.mit.edu	37	chr20	49366352	49366352	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtcttctattatagacgtggAtattctcccagaaacgcatc	11	13	7	10	2	3	2	0	0	3	2	5	3	3	3	1	1	1	1	1	1	5	6			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chr20:49366352A>G	ENST00000371610.2	+	3	689	c.446A>G	c.(445-447)gAt>gGt	p.D149G	PARD6B_ENST00000396039.1_Intron	NM_032521.2	NP_115910.1	Q9BYG5	PAR6B_HUMAN	par-6 family cell polarity regulator beta	149	Interaction with PARD3 and CDC42 (By similarity).|Pseudo-CRIB.				axonogenesis|cell cycle|cell division|establishment or maintenance of cell polarity|protein complex assembly|regulation of cell migration|tight junction assembly	cytosol|tight junction	protein binding			NS(1)|breast(1)|endometrium(1)|kidney(4)|lung(3)|urinary_tract(1)	11						ATAGACGTGGATATTCTCCCA	0.448													G	49366352	A	G	49366352	3	3	790	1	0	0	0	0	1	0	0	0	11522	333	12	3	456	3	PARD6B	20	49366352	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		49366352	13659168	41	58247											
OFD1	8481	broad.mit.edu	37	chrX	13767612	13767612	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atatggatttgctaagaggaAgagaagcagagctgaagcaa	17	7	13	4	0	0	4	0	1	0	3	0	7	0	6	0	2	4	4	0	2	6	3			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:13767612A>G	ENST00000380567.1	+	10	1347	c.475A>G	c.(475-477)Aga>Gga	p.R159G	OFD1_ENST00000490265.1_3'UTR|OFD1_ENST00000380550.3_Missense_Mutation_p.R299G|OFD1_ENST00000340096.6_Missense_Mutation_p.R299G|OFD1_ENST00000398395.3_Missense_Mutation_p.R299G			O75665	OFD1_HUMAN	oral-facial-digital syndrome 1	299					cilium movement involved in determination of left/right asymmetry|G2/M transition of mitotic cell cycle	centriole|cilium|cytosol|microtubule basal body|nuclear membrane	alpha-tubulin binding|gamma-tubulin binding			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	25						GCTAAGAGGAAGAGAAGCAGA	0.299													G	13767612	A	G	13767612	3	3	790	1	0	0	0	0	1	0	0	0	10914	64	3	3	929	3	OFD1	23	13767612	Missense_Mutation	SNP	A	TCGA-WY-A858-01A-11D-A36O-08		13767612	141502948	42	58248											
MAGEE1	57692	broad.mit.edu	37	chrX	75649951	75649951	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agcagcccacctggagtgcaTttttaggtttgaattgagag	10	12	12	7	0	0	2	0	2	0	1	0	4	0	3	2	2	3	3	2	2	2	5			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:75649951T>G	ENST00000361470.2	+	1	1906	c.1628T>G	c.(1627-1629)aTt>aGt	p.I543S		NM_020932.2	NP_065983.1	Q9HCI5	MAGE1_HUMAN	melanoma antigen family E, 1	543	MAGE 1.					dendrite|nucleus|perinuclear region of cytoplasm|postsynaptic membrane				breast(3)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(12)|lung(20)|ovary(1)|pancreas(1)|skin(3)|urinary_tract(1)	51						CTGGAGTGCATTTTTAGGTTT	0.468													G	75649951	T	G	75649951	3	3	790	1	0	0	0	0	1	0	0	0	9260	1493	52	5	1630	5	MAGEE1	23	75649951	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	61882339	75649951	79620609	43	58249											
ATRX	546	broad.mit.edu	37	chrX	76918921	76918921	+	Frame_Shift_Del	DEL	T	T	-																															tatgctctttaggctttgtcTttttttcttctccagattct																										TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:76918921delT	ENST00000373344.5	-	12	4284	c.4070delA	c.(4069-4071)aagfs	p.K1357fs	ATRX_ENST00000395603.3_Frame_Shift_Del_p.K1319fs|ATRX_ENST00000480283.1_5'UTR	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	1357					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)	AGGCTTTGTCTTTTTTTCTTC	0.383			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						-	76918921	T	-	76918921	7	5	790	1	0	1	0	1	0	0	0	0	1213	1609	56	0	3504	0	ATRX	23	76918921	Frame_Shift_Del	DEL	T	TCGA-WY-A858-01A-11D-A36O-08	1268970	76918921	78351639	44	58250											
COL4A5	1287	broad.mit.edu	37	chrX	107938545	107938545	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtcaagccctagcctcccctGgttcctgcttggaagagttt	6	12	10	13	0	1	1	1	0	0	1	3	2	3	2	5	2	3	3	5	2	3	4			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:107938545G>T	ENST00000328300.6	+	52	5114	c.4870G>T	c.(4870-4872)Ggt>Tgt	p.G1624C	COL4A5_ENST00000361603.2_Missense_Mutation_p.G1618C	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1618	Collagen IV NC1.		Missing (in APSX).		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						AGCCTCCCCTGGTTCCTGCTT	0.498									Alport syndrome with Diffuse Leiomyomatosis				T	107938545	G	T	107938545	3	4	790	1	0	0	0	0	1	0	0	0	3725	1348	47	4	5061	4	COL4A5	23	107938545	Missense_Mutation	SNP	G	TCGA-WY-A858-01A-11D-A36O-08	31019624	107938545	47332015	45	58251											
MAGEC1	9947	broad.mit.edu	37	chrX	140996487	140996487	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aataccgtccctattaccttTccatcctcttacaaggatgc	10	13	4	14	1	1	0	0	0	1	0	4	1	4	1	5	1	4	0	5	1	6	5			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:140996487T>C	ENST00000285879.4	+	4	3583	c.3297T>C	c.(3295-3297)ttT>ttC	p.F1099F	MAGEC1_ENST00000406005.2_Silent_p.F166F	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	1099	MAGE.						protein binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(22)|lung(60)|ovary(1)|pancreas(1)|prostate(1)|skin(7)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(1)	127	Acute lymphoblastic leukemia(192;6.56e-05)					CTATTACCTTTCCATCCTCTT	0.448										HNSCC(15;0.026)			C	140996487	T	C	140996487	2	2	790	1	0	0	0	0	0	0	0	1	9255	1780	62	3		3	MAGEC1	23	140996487	Silent	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	33057942	140996487	14274073	46	58252											
MAGEA8	4107	broad.mit.edu	37	chrX	149013818	149013818	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	aagagtgggtgcaggagaacTacctggagtaccgccaggcg	11	5	16	9	2	0	2	0	0	0	2	0	4	0	3	3	4	4	2	3	4	4	2			TCGA-WY-A858-01A-11D-A36O-08	TCGA-WY-A858-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	be4899f0-5237-4a0e-bdcc-8b88c02e4972	8d29a469-4eb5-4bf3-9577-3a8508544daf	g.chrX:149013818T>A	ENST00000535454.1	+	4	1321	c.772T>A	c.(772-774)Tac>Aac	p.Y258N	MAGEA8_ENST00000542674.1_Missense_Mutation_p.Y258N|MAGEA8_ENST00000286482.1_Missense_Mutation_p.Y258N	NM_001166400.1	NP_001159872.1	P43361	MAGA8_HUMAN	melanoma antigen family A, 8	258	MAGE.									NS(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(12)|upper_aerodigestive_tract(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)					GCAGGAGAACTACCTGGAGTA	0.577													A	149013818	T	A	149013818	3	1	790	1	0	0	0	0	1	0	0	0	9244	1522	53	5	774	5	MAGEA8	23	149013818	Missense_Mutation	SNP	T	TCGA-WY-A858-01A-11D-A36O-08	8017331	149013818	6256742	47	58253											
RPS6KA1	6195	broad.mit.edu	37	chr1	26898725	26898725	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	aggaaatcctaacccggatcGgcagtgggaagtttaccctc	11	8	11	11	2	0	0	0	0	0	0	3	3	1	3	3	4	2	2	3	4	4	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:26898725G>A	ENST00000374168.2	+	20	2042	c.1888G>A	c.(1888-1890)Ggc>Agc	p.G630S	RPS6KA1_ENST00000374162.2_Missense_Mutation_p.G538S|RPS6KA1_ENST00000374166.4_Missense_Mutation_p.G619S|RPS6KA1_ENST00000530003.1_Missense_Mutation_p.G614S|RPS6KA1_ENST00000526792.1_Missense_Mutation_p.G538S|RPS6KA1_ENST00000531382.1_Missense_Mutation_p.G639S	NM_002953.3	NP_002944.2	Q15418	KS6A1_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 1	630	Protein kinase 2.				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|caspase inhibitor activity|magnesium ion binding|protein binding|protein serine/threonine kinase activity			lung(1)	1		all_cancers(24;2.49e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.00571)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;1.12e-50)|OV - Ovarian serous cystadenocarcinoma(117;2.89e-29)|Colorectal(126;1.4e-08)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000537)|KIRC - Kidney renal clear cell carcinoma(1967;0.000759)|STAD - Stomach adenocarcinoma(196;0.00151)|GBM - Glioblastoma multiforme(114;0.0361)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.161)|LUSC - Lung squamous cell carcinoma(448;0.234)		AACCCGGATCGGCAGTGGGAA	0.547													A	26898725	G	A	26898725	3	1	791	1	0	0	0	0	1	0	0	0	13741	1116	39	1	2105	1	RPS6KA1	1	26898725	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		26898725	222351896	1	58254											
PABPC4	8761	broad.mit.edu	37	chr1	40029555	40029555	+	Missense_Mutation	SNP	C	C	A																															cttgctgggcggcaccagccCcaccaaagtccatagccaag																										TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029555C>A	ENST00000372857.3	-	11	2237	c.1445G>T	c.(1444-1446)gGg>gTg	p.G482V	PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498V	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GGCACCAGCCCCACCAAAGTC	0.587													A	40029555	C	A	40029555	3	1	791	1	0	0	0	0	1	0	0	0	11442	623	22	4	509	4	PABPC4	1	40029555	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	13130830	40029555	209221066	2	58255	181	2									
PABPC4	8761	broad.mit.edu	37	chr1	40029556	40029556	+	Missense_Mutation	SNP	C	C	A																															ttgctgggcggcaccagcccCaccaaagtccatagccaagc																										TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:40029556C>A	ENST00000372857.3	-	11	2236	c.1444G>T	c.(1444-1446)Ggg>Tgg	p.G482W	PABPC4_ENST00000372862.3_Intron|PABPC4_ENST00000372856.3_Intron|PABPC4_ENST00000372858.3_Missense_Mutation_p.G498W	NM_003819.3	NP_003810.1	Q13310	PABP4_HUMAN	poly(A) binding protein, cytoplasmic 4 (inducible form)	482					blood coagulation|RNA catabolic process|RNA processing|translation	cytoplasm|ribonucleoprotein complex	nucleotide binding|poly(A) RNA binding|poly(U) RNA binding|protein binding			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(3)	21	Lung NSC(20;1.55e-06)|Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;2.89e-18)|Epithelial(16;6.17e-17)|all cancers(16;1.18e-15)|LUSC - Lung squamous cell carcinoma(16;0.000261)|Lung(16;0.000457)			GCACCAGCCCCACCAAAGTCC	0.582													A	40029556	C	A	40029556	3	1	791	1	0	0	0	0	1	0	0	0	11442	594	21	4	510	4	PABPC4	1	40029556	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	1	40029556	209221065	3	58256	181	2									
PTPRF	5792	broad.mit.edu	37	chr1	44010763	44010763	+	Frame_Shift_Del	DEL	C	C	-																															ctggatggcccctgagccagCcccagggaggacgatggtgc																										TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:44010763delC	ENST00000359947.4	+	3	357	c.17delC	c.(16-18)gccfs	p.A6fs	PTPRF_ENST00000372413.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000372414.3_Frame_Shift_Del_p.A6fs|PTPRF_ENST00000438120.1_Frame_Shift_Del_p.A6fs	NM_002840.3	NP_002831.2	P10586	PTPRF_HUMAN	protein tyrosine phosphatase, receptor type, F	6					transmembrane receptor protein tyrosine phosphatase signaling pathway	integral to plasma membrane	transmembrane receptor protein tyrosine phosphatase activity			NS(2)|breast(4)|central_nervous_system(3)|endometrium(9)|kidney(4)|large_intestine(11)|liver(1)|lung(24)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)	72	all_hematologic(146;0.0958)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0333)				CCTGAGCCAGCCCCAGGGAGG	0.592													-	44010763	C	-	44010763	7	5	791	1	0	1	0	1	0	0	0	0	12889	739	26	0	19	0	PTPRF	1	44010763	Frame_Shift_Del	DEL	C	TCGA-WY-A859-01A-12D-A36O-08	3981207	44010763	205239858	4	58257											
SELENBP1	8991	broad.mit.edu	37	chr1	151338088	151338088	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagagatgtcatactgcctcAggtccccatgcagccagttg	9	9	10	13	0	2	1	2	0	0	1	3	2	3	1	4	1	4	2	4	1	1	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:151338088A>G	ENST00000426705.2	-	9	1265	c.1121T>C	c.(1120-1122)cTg>cCg	p.L374P	SELENBP1_ENST00000368868.5_Missense_Mutation_p.L332P|SELENBP1_ENST00000447402.3_Missense_Mutation_p.L270P|SELENBP1_ENST00000435071.1_Missense_Mutation_p.L268P	NM_001258289.1	NP_001245218.1	Q13228	SBP1_HUMAN	selenium binding protein 1	332					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)			ATACTGCCTCAGGTCCCCATG	0.592													G	151338088	A	G	151338088	3	3	791	1	0	0	0	0	1	0	0	0	14107	188	7	3	439	3	SELENBP1	1	151338088	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08	107327325	151338088	97912533	5	58258											
SEC16B	89866	broad.mit.edu	37	chr1	177929520	177929520	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tctcatctcctcttgctcttCggaatcattaagaataacct	10	15	4	12	1	5	1	2	0	4	1	8	2	5	2	2	1	2	1	2	1	4	4			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr1:177929520C>T	ENST00000308284.6	-	8	1044	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	RP4-798P15.3_ENST00000354921.3_RNA|SEC16B_ENST00000464631.2_Missense_Mutation_p.E320K	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	319					protein transport|vesicle-mediated transport	endoplasmic reticulum membrane|Golgi membrane				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						TCTTGCTCTTCGGAATCATTA	0.428													T	177929520	C	T	177929520	3	4	791	1	0	0	0	0	1	0	0	0	14080	893	31	1	2303	1	SEC16B	1	177929520	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	26591432	177929520	71321101	6	58259											
TTC30B	150737	broad.mit.edu	37	chr2	178416267	178416267	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ttcattcactgcctttttgaTagcttcatcatctctattgt	7	20	4	10	0	5	1	4	1	1	0	6	1	5	1	1	0	2	1	1	0	2	8			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:178416267T>G	ENST00000408939.3	-	1	1475	c.1225A>C	c.(1225-1227)Atc>Ctc	p.I409L		NM_152517.2	NP_689730.2	Q8N4P2	TT30B_HUMAN	tetratricopeptide repeat domain 30B						cell projection organization	cilium	binding			cervix(1)|endometrium(1)|kidney(4)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	23			OV - Ovarian serous cystadenocarcinoma(117;0.00151)|Epithelial(96;0.00931)|all cancers(119;0.0362)			GCCTTTTTGATAGCTTCATCA	0.398													G	178416267	T	G	178416267	3	3	791	1	0	0	0	0	1	0	0	0	16801	1406	49	5	776	5	TTC30B	2	178416267	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		178416267	64783106	7	58260											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:209113113G>T	ENST00000415913.1	-	4	775	c.394C>A	c.(394-396)Cgt>Agt	p.R132S	IDH1_ENST00000345146.2_Missense_Mutation_p.R132S|IDH1_ENST00000446179.1_Missense_Mutation_p.R132S	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								T	209113113	G	T	209113113	3	4	791	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	30696846	209113113	34086260	8	58261											
CCDC108	255101	broad.mit.edu	37	chr2	219869028	219869028	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	catcctcccagctgctggagGgtacaggcaggattggcatt	8	9	13	11	0	0	0	0	0	0	0	2	2	2	2	2	5	3	5	2	5	1	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr2:219869028G>A	ENST00000341552.5	-	33	5284	c.5201C>T	c.(5200-5202)cCc>cTc	p.P1734L	CCDC108_ENST00000453220.1_Missense_Mutation_p.P1734L|CCDC108_ENST00000441968.1_Missense_Mutation_p.P1734L|AC097468.4_ENST00000441450.1_RNA	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1734						integral to membrane	structural molecule activity			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTGCTGGAGGGTACAGGCAG	0.542													A	219869028	G	A	219869028	3	1	791	1	0	0	0	0	1	0	0	0	2769	1232	43	2	588	2	CCDC108	2	219869028	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	10755915	219869028	23330345	9	58262											
EVC2	132884	broad.mit.edu	37	chr4	5630449	5630449	+	Frame_Shift_Del	DEL	C	C	-																															ctggaaaaagtccattaactCttctacattctcctgtcaat																										TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr4:5630449delC	ENST00000310917.2	-	12	2214	c.1483delG	c.(1483-1485)gagfs	p.E495fs	EVC2_ENST00000344938.1_Frame_Shift_Del_p.E575fs|EVC2_ENST00000344408.5_Frame_Shift_Del_p.E575fs	NM_001166136.1	NP_001159608.1	Q86UK5	LBN_HUMAN	Ellis van Creveld syndrome 2	575						integral to membrane				NS(2)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(32)|lung(28)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	81						TCCATTAACTCTTCTACATTC	0.328													-	5630449	C	-	5630449	7	5	791	1	0	1	0	1	0	0	0	0	5327	922	32	0	2247	0	EVC2	4	5630449	Frame_Shift_Del	DEL	C	TCGA-WY-A859-01A-12D-A36O-08		5630449	185523827	10	58263											
HLA-DMA	3108	broad.mit.edu	37	chr6	32918314	32918314	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctctggacaccgggatttTcccatcaagttttggcccta	8	12	8	13	1	2	0	1	0	1	0	3	2	3	2	4	3	0	1	4	3	2	5			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:32918314T>G	ENST00000374843.4	-	2	440	c.355A>C	c.(355-357)Aaa>Caa	p.K119Q	HLA-DMA_ENST00000395303.3_Missense_Mutation_p.K119Q|HLA-DMA_ENST00000464392.1_Intron|XXbac-BPG181M17.5_ENST00000429234.1_Intron|HLA-DMA_ENST00000395305.3_Intron	NM_006120.3	NP_006111.2	Q31604	Q31604_HUMAN	major histocompatibility complex, class II, DM alpha	119						integral to membrane|MHC class II protein complex				kidney(1)|large_intestine(2)|lung(8)	11						ACCGGGATTTTCCCATCAAGT	0.488													G	32918314	T	G	32918314	3	3	791	1	0	0	0	0	1	0	0	0	7253	1792	62	5	446	5	HLA-DMA	6	32918314	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		32918314	138196753	11	58264											
HEY2	23493	broad.mit.edu	37	chr6	126080335	126080335	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agagtgcctaacagaagttgCgcggtacctgagctccgtgg	9	8	14	10	3	0	3	0	1	0	2	1	3	1	3	3	2	5	3	3	2	3	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080335C>T	ENST00000368364.3	+	5	598	c.401C>T	c.(400-402)gCg>gTg	p.A134V	HEY2_ENST00000368365.1_Missense_Mutation_p.A88V	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	134	Orange.				negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding	p.A134V(2)		breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		ACAGAAGTTGCGCGGTACCTG	0.587													T	126080335	C	T	126080335	3	4	791	1	0	0	0	0	1	0	0	0	7134	768	27	1	419	1	HEY2	6	126080335	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	93162021	126080335	45034732	12	58265											
HEY2	23493	broad.mit.edu	37	chr6	126080565	126080565	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cctcagagtcaaccccttgtCgcctctccacaacttcagaa	10	9	5	17	1	4	2	3	0	1	2	6	2	4	2	5	0	2	0	5	0	3	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:126080565C>T	ENST00000368364.3	+	5	828	c.631C>T	c.(631-633)Cgc>Tgc	p.R211C	HEY2_ENST00000368365.1_Missense_Mutation_p.R165C	NM_012259.2	NP_036391.1	Q9UBP5	HEY2_HUMAN	hes-related family bHLH transcription factor with YRPW motif 2	211					negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription initiation from RNA polymerase II promoter|negative regulation of transcription regulatory region DNA binding|Notch signaling pathway|smooth muscle cell differentiation|transcription, DNA-dependent	transcriptional repressor complex	histone deacetylase binding|RNA polymerase II activating transcription factor binding|sequence-specific DNA binding			breast(1)|large_intestine(7)|lung(5)|prostate(1)	14				UCEC - Uterine corpus endometrioid carcinoma (4;0.0608)|GBM - Glioblastoma multiforme(226;0.0361)|all cancers(137;0.193)		AACCCCTTGTCGCCTCTCCAC	0.657													T	126080565	C	T	126080565	3	4	791	1	0	0	0	0	1	0	0	0	7134	884	31	1	649	1	HEY2	6	126080565	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	230	126080565	45034502	13	58266											
VIP	7432	broad.mit.edu	37	chr6	153075402	153075402	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcattagctgaaaatgacaCaccctattatgatgtatcca	14	12	6	9	0	0	3	0	3	0	0	1	3	1	3	2	0	2	3	2	0	6	4			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr6:153075402C>A	ENST00000367244.3	+	3	381	c.209C>A	c.(208-210)aCa>aAa	p.T70K	VIP_ENST00000367243.3_Missense_Mutation_p.T70K	NM_003381.3	NP_003372.1	P01282	VIP_HUMAN	vasoactive intestinal peptide	70					body fluid secretion|G-protein coupled receptor protein signaling pathway|positive regulation of cell proliferation	extracellular region	neuropeptide hormone activity			haematopoietic_and_lymphoid_tissue(1)|lung(4)|skin(1)	6		Ovarian(120;0.0654)		OV - Ovarian serous cystadenocarcinoma(155;4.5e-11)|BRCA - Breast invasive adenocarcinoma(81;0.144)		GAAAATGACACACCCTATTAT	0.313													A	153075402	C	A	153075402	3	1	791	1	0	0	0	0	1	0	0	0	17269	478	17	4	215	4	VIP	6	153075402	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	26994837	153075402	18039665	14	58267											
SUN1	23353	broad.mit.edu	37	chr7	893044	893044	+	Splice_Site	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	catttctctcttgccatttcAgggtgacagtgaggcttttc	6	16	9	10	0	3	2	1	2	2	0	5	2	3	2	1	2	1	1	1	2	0	5			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:893044A>G	ENST00000456758.2	+	16	1620		c.e16-1		SUN1_ENST00000413514.2_Splice_Site|SUN1_ENST00000401592.1_Splice_Site|SUN1_ENST00000389574.3_Splice_Site|SUN1_ENST00000405266.1_Splice_Site|SUN1_ENST00000452783.2_Splice_Site|SUN1_ENST00000425407.2_Splice_Site			O94901	SUN1_HUMAN	Sad1 and UNC84 domain containing 1						cytoskeletal anchoring at nuclear membrane|nuclear matrix anchoring at nuclear membrane	integral to membrane|nuclear inner membrane|SUN-KASH complex	protein binding			NS(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						TTGCCATTTCAGGGTGACAGT	0.527													G	893044	A	G	893044	5	3	791	1	0	0	0	0	0	0	1	0	15487	202	7	3	1273	3	SUN1	7	893044	Splice_Site	SNP	A	TCGA-WY-A859-01A-12D-A36O-08		893044	158245619	15	58268											
LRCH4	4034	broad.mit.edu	37	chr7	100173893	100173893	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agtcattaagtccttctcatCtggaacctgggggtaccgcc	8	11	10	12	1	3	0	2	0	2	0	5	1	4	1	4	3	2	1	4	3	3	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100173893C>T	ENST00000310300.6	-	15	1658	c.1606G>A	c.(1606-1608)Gat>Aat	p.D536N	LRCH4_ENST00000497245.1_Missense_Mutation_p.D84N	NM_002319.3	NP_002310.2	O75427	LRCH4_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 4	536	CH.				nervous system development	PML body	protein binding			NS(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	23	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TCCTTCTCATCTGGAACCTGG	0.637													T	100173893	C	T	100173893	3	4	791	1	0	0	0	0	1	0	0	0	9005	913	32	2	461	2	LRCH4	7	100173893	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	99280849	100173893	58964770	16	58269											
GNB2	2783	broad.mit.edu	37	chr7	100275813	100275813	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gtccctggcccccgatggccGcacgtttgtgtcaggcgcct	3	9	13	16	4	1	0	1	0	0	0	2	1	2	0	5	3	0	2	5	3	0	1	rs139214321		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100275813G>A	ENST00000303210.4	+	8	1072	c.590G>A	c.(589-591)cGc>cAc	p.R197H	GNB2_ENST00000424361.1_Missense_Mutation_p.R153H|GNB2_ENST00000419828.1_Missense_Mutation_p.R97H|GNB2_ENST00000436220.1_Missense_Mutation_p.R153H|GNB2_ENST00000393924.1_Missense_Mutation_p.R197H|GNB2_ENST00000427895.1_Missense_Mutation_p.R97H|GNB2_ENST00000393926.1_Missense_Mutation_p.R197H	NM_005273.3	NP_005264.2	P62879	GBB2_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 2	197					cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|synaptic transmission	perinuclear region of cytoplasm|plasma membrane	GTPase activity|GTPase binding|signal transducer activity			endometrium(1)|lung(3)|ovary(2)|prostate(1)	7	Lung NSC(181;0.035)|all_lung(186;0.0509)|Esophageal squamous(72;0.0817)	Ovarian(593;0.238)				CCCGATGGCCGCACGTTTGTG	0.587													A	100275813	G	A	100275813	3	1	791	1	0	0	0	0	1	0	0	0	6573	1087	38	1	616	1	GNB2	7	100275813	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	101920	100275813	58862850	17	58270											
MUC17	140453	broad.mit.edu	37	chr7	100676909	100676909	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ctgctgatggtgccagtatgCcaacctcaactcctagtgaa	10	10	9	12	0	1	2	1	2	0	0	2	2	2	2	4	1	5	2	4	1	5	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:100676909C>T	ENST00000306151.4	+	3	2276	c.2212C>T	c.(2212-2214)Cca>Tca	p.P738S		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	738	59 X approximate tandem repeats.|Ser-rich.					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	p.P738S(1)		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)					TGCCAGTATGCCAACCTCAAC	0.502													T	100676909	C	T	100676909	3	4	791	1	0	0	0	0	1	0	0	0	10050	739	26	2	2222	2	MUC17	7	100676909	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	401096	100676909	58461754	18	58271											
TSPAN33	340348	broad.mit.edu	37	chr7	128804401	128804401	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaacctcattgattttggCcagaaaaaggtatgggtcag	13	10	11	7	0	2	3	2	1	0	2	2	3	2	3	2	3	1	1	2	3	4	4			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr7:128804401C>T	ENST00000289407.4	+	5	559	c.450C>T	c.(448-450)ggC>ggT	p.G150G		NM_178562.3	NP_848657.1	Q86UF1	TSN33_HUMAN	tetraspanin 33	150						integral to membrane		p.G150G(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	14						TTGATTTTGGCCAGAAAAAGG	0.512											OREG0018304	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	T	128804401	C	T	128804401	2	4	791	1	0	0	0	0	0	0	0	1	16749	726	26	2		2	TSPAN33	7	128804401	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	28127492	128804401	30334262	19	58272											
IFNA6	3443	broad.mit.edu	37	chr9	21350375	21350375	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atgaagagaaggatctcatgAtttctgctctgacaacctcc	12	11	8	10	0	3	4	1	3	3	1	5	6	4	5	2	1	2	1	2	1	3	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:21350375A>G	ENST00000380210.1	-	1	1002	c.512T>C	c.(511-513)aTc>aCc	p.I171T		NM_021002.2	NP_066282.1	P05013	IFNA6_HUMAN	interferon, alpha 6	171					blood coagulation|regulation of type I interferon-mediated signaling pathway|response to virus|type I interferon-mediated signaling pathway	extracellular space	cytokine activity|cytokine receptor binding			large_intestine(3)|lung(7)|skin(1)	11				Lung(24;7.66e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.116)		GGATCTCATGATTTCTGCTCT	0.448													G	21350375	A	G	21350375	3	3	791	1	0	0	0	0	1	0	0	0	7599	333	12	3	59	3	IFNA6	9	21350375	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08		21350375	119863056	20	58273											
OLFML2A	169611	broad.mit.edu	37	chr9	127549423	127549423	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctcgggcactgactgccGctgctcctgtaccgcacctc	5	8	11	17	3	0	1	0	1	0	0	3	2	1	1	4	1	4	6	4	1	1	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:127549423G>A	ENST00000373580.3	+	2	260	c.260G>A	c.(259-261)cGc>cAc	p.R87H		NM_182487.2	NP_872293.2	Q68BL7	OLM2A_HUMAN	olfactomedin-like 2A	87										endometrium(5)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	25						ACTGACTGCCGCTGCTCCTGT	0.627													A	127549423	G	A	127549423	3	1	791	1	0	0	0	0	1	0	0	0	10933	1087	38	1	266	1	OLFML2A	9	127549423	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	106199048	127549423	13664008	21	58274											
NUP188	23511	broad.mit.edu	37	chr9	131755536	131755536	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	cggctgccattcgtgatgccTtcctgacccgattgcagagc	6	10	11	14	3	0	3	0	2	0	1	2	4	1	3	4	1	4	2	4	1	0	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr9:131755536T>C	ENST00000372577.2	+	26	2722	c.2701T>C	c.(2701-2703)Ttc>Ctc	p.F901L		NM_015354.1	NP_056169.1	Q5SRE5	NU188_HUMAN	nucleoporin 188kDa	901					carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding			breast(2)|central_nervous_system(3)|endometrium(6)|kidney(4)|large_intestine(9)|lung(20)|ovary(6)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	60						TCGTGATGCCTTCCTGACCCG	0.532											OREG0019527	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	C	131755536	T	C	131755536	3	2	791	1	0	0	0	0	1	0	0	0	10834	1609	56	3	2803	3	NUP188	9	131755536	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08	4206113	131755536	9457895	22	58275											
OR4D11	219986	broad.mit.edu	37	chr11	59271628	59271628	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	tcacttgcactgacacttttGctcttgagttcttgatgatt	7	18	7	9	0	3	4	1	4	2	0	3	4	3	4	0	0	2	3	0	0	0	7			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr11:59271628G>T	ENST00000313253.1	+	1	580	c.580G>T	c.(580-582)Gct>Tct	p.A194S		NM_001004706.1	NP_001004706.1	Q8NGI4	OR4DB_HUMAN	olfactory receptor, family 4, subfamily D, member 11	194					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29						TGACACTTTTGCTCTTGAGTT	0.493													T	59271628	G	T	59271628	3	4	791	1	0	0	0	0	1	0	0	0	11131	1319	46	4	582	4	OR4D11	11	59271628	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		59271628	75734888	23	58276											
DCP1B	196513	broad.mit.edu	37	chr12	2062420	2062420	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgcttcccaaacagagctGtcaaggataagtgttggggt	10	10	12	9	0	1	1	1	0	0	1	2	2	2	2	2	3	3	3	2	3	3	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr12:2062420G>C	ENST00000280665.6	-	7	765	c.686C>G	c.(685-687)aCa>aGa	p.T229R	DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000397173.4_Missense_Mutation_p.T127R|DCP1B_ENST00000540622.1_Missense_Mutation_p.T103R	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	229					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			AAACAGAGCTGTCAAGGATAA	0.473													C	2062420	G	C	2062420	3	2	791	1	0	0	0	0	1	0	0	0	4333	1377	48	4	1179	4	DCP1B	12	2062420	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		2062420	131789475	24	58277											
TRPC4	7223	broad.mit.edu	37	chr13	38357404	38357404	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gagttctgattctgctcttaCtatccttagagggatgcggt	7	15	11	8	1	3	2	0	1	3	1	4	4	4	3	1	2	3	2	1	2	3	5			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr13:38357404C>A	ENST00000379705.3	-	2	924	c.67G>T	c.(67-69)Gta>Tta	p.V23L	TRPC4_ENST00000338947.5_Missense_Mutation_p.V23L|TRPC4_ENST00000379673.2_Missense_Mutation_p.V23L|TRPC4_ENST00000358477.2_Missense_Mutation_p.V23L|TRPC4_ENST00000379679.1_Missense_Mutation_p.V23L|TRPC4_ENST00000447043.1_Missense_Mutation_p.V23L|TRPC4_ENST00000379681.3_Missense_Mutation_p.V23L|TRPC4_ENST00000426868.2_Missense_Mutation_p.V23L|TRPC4_ENST00000355779.2_Missense_Mutation_p.V23L			Q9UBN4	TRPC4_HUMAN	transient receptor potential cation channel, subfamily C, member 4	23					axon guidance|calcium ion import	basolateral plasma membrane|calcium channel complex|cell surface|cortical cytoskeleton	beta-catenin binding|cadherin binding|store-operated calcium channel activity			NS(2)|breast(4)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(26)|lung(30)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	83				all cancers(112;1.92e-08)|Epithelial(112;5.04e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000677)|GBM - Glioblastoma multiforme(144;0.00623)|BRCA - Breast invasive adenocarcinoma(63;0.0126)		TCTGCTCTTACTATCCTTAGA	0.423													A	38357404	C	A	38357404	3	1	791	1	0	0	0	0	1	0	0	0	16681	565	20	4	2921	4	TRPC4	13	38357404	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08		38357404	76812474	25	58278											
NEIL1	79661	broad.mit.edu	37	chr15	75641378	75641378	+	Silent	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gtgccctttgagagcagtgcCtaccgcatctcagcttcagc	7	10	10	14	1	2	1	2	1	1	1	3	2	2	1	3	0	6	3	3	0	1	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr15:75641378C>G	ENST00000564784.1	+	3	761	c.132C>G	c.(130-132)gcC>gcG	p.A44A	NEIL1_ENST00000355059.4_Silent_p.A44A|NEIL1_ENST00000569035.1_Silent_p.A44A|NEIL1_ENST00000567959.1_Intron			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	44					base-excision repair|negative regulation of nuclease activity|nucleotide-excision repair|response to oxidative stress	cytoplasm|nucleus	damaged DNA binding|DNA-(apurinic or apyrimidinic site) lyase activity|protein C-terminus binding|zinc ion binding			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						AGAGCAGTGCCTACCGCATCT	0.652								Base excision repair (BER), DNA glycosylases					G	75641378	C	G	75641378	2	3	791	1	0	0	0	0	0	0	0	1	10394	668	24	4		4	NEIL1	15	75641378	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08		75641378	26890014	26	58279											
ZNF629	23361	broad.mit.edu	37	chr16	30793291	30793291	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tcctgggtgtgggtttcttgGtgccgggtgagggccacgcg	2	11	19	9	3	1	1	0	1	1	0	2	1	2	1	3	5	1	1	3	5	0	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:30793291G>C	ENST00000262525.4	-	3	2565	c.2358C>G	c.(2356-2358)caC>caG	p.H786Q		NM_001080417.1	NP_001073886.1	Q9UEG4	ZN629_HUMAN	zinc finger protein 629	786					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|prostate(3)|urinary_tract(1)	22			Colorectal(24;0.198)			GGGTTTCTTGGTGCCGGGTGA	0.657													C	30793291	G	C	30793291	3	2	791	1	0	0	0	0	1	0	0	0	18154	1252	44	4	255	4	ZNF629	16	30793291	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		30793291	59561462	27	58280											
N4BP1	9683	broad.mit.edu	37	chr16	48595409	48595409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tattttctttttcaatttccTctaagagcaataatggttca	11	19	4	7	0	4	1	2	0	2	1	5	1	5	1	1	1	1	2	1	1	5	9			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr16:48595409T>A	ENST00000262384.3	-	2	1381	c.1145A>T	c.(1144-1146)gAg>gTg	p.E382V	RP11-44I10.3_ENST00000563994.1_RNA	NM_153029.3	NP_694574.3	O75113	N4BP1_HUMAN	NEDD4 binding protein 1	382					negative regulation of proteasomal ubiquitin-dependent protein catabolic process|negative regulation of protein ubiquitination	nucleolus|PML body				breast(3)|kidney(2)|lung(11)|urinary_tract(1)	17		all_cancers(37;0.179)|all_lung(18;0.11)				TTCAATTTCCTCTAAGAGCAA	0.343													A	48595409	T	A	48595409	3	1	791	1	0	0	0	0	1	0	0	0	10185	1551	54	5	1569	5	N4BP1	16	48595409	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08	17802118	48595409	41759344	28	58281											
TP53	7157	broad.mit.edu	37	chr17	7577539	7577539	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gatggtgaggatgggcctccGgttcatgccgcccatgcagg	6	8	16	11	2	1	1	1	1	0	0	2	3	2	2	4	5	2	2	4	5	0	1	rs121912651		TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:7577539G>A	ENST00000420246.2	-	7	874	c.742C>T	c.(742-744)Cgg>Tgg	p.R248W	TP53_ENST00000455263.2_Missense_Mutation_p.R248W|TP53_ENST00000359597.4_Missense_Mutation_p.R248W|TP53_ENST00000413465.2_Missense_Mutation_p.R248W|TP53_ENST00000445888.2_Missense_Mutation_p.R248W|TP53_ENST00000269305.4_Missense_Mutation_p.R248W	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	248	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Interacts with the 53BP2 SH3 domain.		NR -> IP (in a sporadic cancer; somatic mutation).|NR -> KW (in sporadic cancers; somatic mutation).|R -> C (in a sporadic cancer; somatic mutation).|R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs11540652).|R -> W (in LFS; 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.R248W(544)|p.R155W(28)|p.R248G(12)|p.0?(8)|p.?(5)|p.N247_R248delNR(2)|p.R248fs*16(2)|p.N247_R248>KW(2)|p.M246_P250delMNRRP(2)|p.R248fs*97(2)|p.R248R(2)|p.R248fs*>39(1)|p.R248_P250delRRP(1)|p.unknown(1)|p.N247_R249delNRR(1)|p.N247_P250delNRRP(1)|p.R248C(1)|p.G245fs*14(1)|p.N247_R248>IP(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)		ATGGGCCTCCGGTTCATGCCG	0.577	R248W(786O_KIDNEY)|R248W(CAS1_CENTRAL_NERVOUS_SYSTEM)|R248W(COLO320_LARGE_INTESTINE)|R248W(COLO680N_OESOPHAGUS)|R248W(DB_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(GCT_SOFT_TISSUE)|R248W(HCC2157_BREAST)|R248W(JIMT1_BREAST)|R248W(KO52_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R248W(LUDLU1_LUNG)|R248W(LXF289_LUNG)|R248W(MIAPACA2_PANCREAS)|R248W(RD_SOFT_TISSUE)|R248W(SW837_LARGE_INTESTINE)|R248W(VCAP_PROSTATE)	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)			A	7577539	G	A	7577539	3	1	791	1	0	0	0	0	1	0	0	0	16482	1115	39	1	548	1	TP53	17	7577539	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		7577539	73617671	29	58282											
MRPL38	64978	broad.mit.edu	37	chr17	73895047	73895047	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	agggggcggccgcacgaactCaaacaccggctcccgcatgt	9	4	13	15	5	1	0	1	0	0	0	2	1	2	0	3	4	2	3	3	4	2	0			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr17:73895047C>T	ENST00000309352.3	-	9	1564	c.1027G>A	c.(1027-1029)Gag>Aag	p.E343K	RP11-552F3.10_ENST00000587267.1_RNA|MRPL38_ENST00000409963.3_Missense_Mutation_p.E159K	NM_032478.3	NP_115867.2	Q96DV4	RM38_HUMAN	mitochondrial ribosomal protein L38	343						actin cytoskeleton|mitochondrion|ribosome				ovary(1)|pancreas(1)|prostate(2)|skin(1)	5			all cancers(21;0.000154)|Epithelial(20;0.000156)|BRCA - Breast invasive adenocarcinoma(9;0.00936)|LUSC - Lung squamous cell carcinoma(166;0.154)			CGCACGAACTCAAACACCGGC	0.682													T	73895047	C	T	73895047	3	4	791	1	0	0	0	0	1	0	0	0	9877	835	29	2	119	2	MRPL38	17	73895047	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	66317508	73895047	7300163	30	58283											
MUC16	94025	broad.mit.edu	37	chr19	9087491	9087491	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgggagcaaggaccagggGttcccctgggacatcagaag	11	5	15	10	0	1	1	1	0	0	1	2	4	2	4	3	5	1	2	3	5	2	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:9087491G>A	ENST00000397910.4	-	1	4527	c.4324C>T	c.(4324-4326)Ccc>Tcc	p.P1442S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	1442	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						AGGACCAGGGGTTCCCCTGGG	0.522													A	9087491	G	A	9087491	3	1	791	1	0	0	0	0	1	0	0	0	10049	1261	44	2	39535	2	MUC16	19	9087491	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		9087491	50041492	31	58284											
KRTDAP	388533	broad.mit.edu	37	chr19	35979707	35979707	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gaaaacagacggcttacctcGggtcgtgacgcataattctc	11	9	10	11	4	1	2	0	1	1	1	4	3	1	2	1	2	2	2	1	2	4	3			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr19:35979707G>T	ENST00000338897.3	-	2	211	c.123C>A	c.(121-123)ccC>ccA	p.P41P	KRTDAP_ENST00000479340.1_5'UTR|KRTDAP_ENST00000484218.2_Silent_p.P41P	NM_207392.2	NP_997275.1	P60985	KTDAP_HUMAN	keratinocyte differentiation-associated protein	41					cell differentiation	extracellular region				breast(1)|lung(4)|prostate(1)	6	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			GGCTTACCTCGGGTCGTGACG	0.552													T	35979707	G	T	35979707	2	4	791	1	0	0	0	0	0	0	0	1	8639	1103	39	4		4	KRTDAP	19	35979707	Silent	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	26892216	35979707	23149276	32	58285											
PIWIL3	440822	broad.mit.edu	37	chr22	25145722	25145722	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gttgtgtacccgttaggcccTttttccatctgccctggctg	3	15	10	13	1	1	0	0	0	1	0	2	0	2	0	4	2	2	4	4	2	2	5			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chr22:25145722T>C	ENST00000332271.5	-	10	1570	c.1154A>G	c.(1153-1155)aAg>aGg	p.K385R	PIWIL3_ENST00000527701.1_Missense_Mutation_p.K276R|PIWIL3_ENST00000532537.2_5'UTR|PIWIL3_ENST00000533313.1_Missense_Mutation_p.K276R	NM_001008496.3|NM_001255975.1	NP_001008496.2|NP_001242904.1	Q7Z3Z3	PIWL3_HUMAN	piwi-like RNA-mediated gene silencing 3	385	PAZ.				cell differentiation|gene silencing by RNA|meiosis|multicellular organismal development|regulation of translation|spermatogenesis	cytoplasm	RNA binding			NS(1)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(15)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	50						CGTTAGGCCCTTTTTCCATCT	0.468													C	25145722	T	C	25145722	3	2	791	1	0	0	0	0	1	0	0	0	12036	1609	56	3	1542	3	PIWIL3	22	25145722	Missense_Mutation	SNP	T	TCGA-WY-A859-01A-12D-A36O-08		25145722	26158844	33	58286											
NHS	4810	broad.mit.edu	37	chrX	17750115	17750115	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	taatgtgacaacccccaacaGccagaggtctcctggtctca	11	8	8	14	0	2	2	1	1	2	1	4	2	2	2	4	2	3	0	4	2	3	1			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:17750115G>T	ENST00000380060.3	+	8	4762	c.4424G>T	c.(4423-4425)aGc>aTc	p.S1475I	NHS_ENST00000398097.3_Missense_Mutation_p.S1319I	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1475						nucleus				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					ACCCCCAACAGCCAGAGGTCT	0.498													T	17750115	G	T	17750115	3	4	791	1	0	0	0	0	1	0	0	0	10487	971	34	4	4559	4	NHS	23	17750115	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08		17750115	137520445	34	58287											
APOO	79135	broad.mit.edu	37	chrX	23899026	23899026	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	gtgctgcatagactttgaagGtgagcaagctcaggctggct	9	10	14	8	0	1	3	1	2	0	1	1	3	1	3	0	3	4	6	0	3	3	2			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:23899026G>T	ENST00000379226.4	-	2	284	c.53C>A	c.(52-54)aCc>aAc	p.T18N	APOO_ENST00000379220.3_Missense_Mutation_p.T18N	NM_024122.4	NP_077027.1	Q9BUR5	APOO_HUMAN	apolipoprotein O	18					lipid transport	high-density lipoprotein particle|integral to membrane|low-density lipoprotein particle|very-low-density lipoprotein particle				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(5)|prostate(1)	9						GACTTTGAAGGTGAGCAAGCT	0.448													T	23899026	G	T	23899026	3	4	791	1	0	0	0	0	1	0	0	0	816	1261	44	4	571	4	APOO	23	23899026	Missense_Mutation	SNP	G	TCGA-WY-A859-01A-12D-A36O-08	6148911	23899026	131371534	35	58288											
FAM47C	442444	broad.mit.edu	37	chrX	37028425	37028425	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gtctccgcccggagcctcccAatactggagtgtcccatctc	6	9	9	17	2	2	0	0	0	2	0	6	2	4	2	5	2	2	0	5	2	2	1	rs145580328	byFrequency	TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:37028425A>G	ENST00000358047.3	+	1	1994	c.1942A>G	c.(1942-1944)Aat>Gat	p.N648D		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	648								p.N648D(7)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						GGAGCCTCCCAATACTGGAGT	0.642													G	37028425	A	G	37028425	3	3	791	1	0	0	0	0	1	0	0	0	5622	130	5	3	1944	3	FAM47C	23	37028425	Missense_Mutation	SNP	A	TCGA-WY-A859-01A-12D-A36O-08	13129399	37028425	118242135	36	58289											
MID1IP1	58526	broad.mit.edu	37	chrX	38664286	38664286	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	ggcgccgtgaacaacatggaCcagacggtgatggtgcccag	10	5	15	11	3	0	3	0	2	0	1	0	4	0	4	3	4	3	0	3	4	2	0			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:38664286C>G	ENST00000336949.6	+	2	1032	c.87C>G	c.(85-87)gaC>gaG	p.D29E	MID1IP1_ENST00000378474.3_Missense_Mutation_p.D29E|MID1IP1_ENST00000457894.1_Missense_Mutation_p.D29E	NM_021242.4	NP_067065.1	Q9NPA3	M1IP1_HUMAN	MID1 interacting protein 1	29					lipid biosynthetic process|negative regulation of microtubule depolymerization|positive regulation of fatty acid biosynthetic process|positive regulation of ligase activity|protein polymerization	cytosol|microtubule|nucleus				kidney(1)|large_intestine(3)|lung(2)|prostate(1)	7						ACAACATGGACCAGACGGTGA	0.612													G	38664286	C	G	38664286	3	3	791	1	0	0	0	0	1	0	0	0	9652	506	18	4	89	4	MID1IP1	23	38664286	Missense_Mutation	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	1635861	38664286	116606274	37	58290											
ATP7A	538	broad.mit.edu	37	chrX	77245264	77245264	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acacaagaaactgtgataaaCattgatggcatgacttgtaa	17	10	8	6	0	0	4	0	3	0	1	0	4	0	4	0	1	2	2	0	1	5	4			TCGA-WY-A859-01A-12D-A36O-08	TCGA-WY-A859-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e48bdcde-ca07-48cb-a84c-21bfc3e8ae6f	1b3c00e9-650d-46dc-93f6-d5dcd42cf17a	g.chrX:77245264C>T	ENST00000341514.6	+	4	1301	c.1146C>T	c.(1144-1146)aaC>aaT	p.N382N	ATP7A_ENST00000343533.5_Silent_p.N382N|ATP7A_ENST00000350425.4_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	382	HMA 4.				ATP biosynthetic process|blood vessel development|blood vessel remodeling|cartilage development|cellular copper ion homeostasis|cerebellar Purkinje cell differentiation|collagen fibril organization|copper ion import|detoxification of copper ion|dopamine metabolic process|elastic fiber assembly|elastin biosynthetic process|epinephrine metabolic process|hair follicle morphogenesis|locomotory behavior|lung alveolus development|negative regulation of metalloenzyme activity|neuroprotection|peptidyl-lysine modification|pigmentation|positive regulation of metalloenzyme activity|positive regulation of oxidoreductase activity|pyramidal neuron development|regulation of oxidative phosphorylation|removal of superoxide radicals|serotonin metabolic process|skin development|T-helper cell differentiation|tryptophan metabolic process	basolateral plasma membrane|cytosol|endoplasmic reticulum|integral to membrane|late endosome|neuron projection|neuronal cell body|perinuclear region of cytoplasm|trans-Golgi network|trans-Golgi network transport vesicle	ATP binding|copper-dependent protein binding|copper-exporting ATPase activity|superoxide dismutase copper chaperone activity			breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53						CTGTGATAAACATTGATGGCA	0.423													T	77245264	C	T	77245264	2	4	791	1	0	0	0	0	0	0	0	1	1195	477	17	2		2	ATP7A	23	77245264	Silent	SNP	C	TCGA-WY-A859-01A-12D-A36O-08	38580978	77245264	78025296	38	58291											
ARHGEF19	128272	broad.mit.edu	37	chr1	16528979	16528979	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagctggaggaggaacacGtggccggggatgccctgcag	9	4	19	9	2	0	0	0	0	0	0	0	5	0	5	2	7	4	2	2	7	1	0			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:16528979G>A	ENST00000270747.3	-	13	2134	c.1998C>T	c.(1996-1998)caC>caT	p.H666H	ARHGEF19_ENST00000478117.1_5'UTR	NM_153213.3	NP_694945.2	Q8IW93	ARHGJ_HUMAN	Rho guanine nucleotide exchange factor (GEF) 19	666	PH.				regulation of actin cytoskeleton organization	intracellular	GTPase activator activity|Rho guanyl-nucleotide exchange factor activity			cervix(1)|endometrium(1)|lung(3)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.000147)|Renal(390;0.00145)|Breast(348;0.00224)|Lung NSC(340;0.00566)|all_lung(284;0.00831)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0646)		UCEC - Uterine corpus endometrioid carcinoma (279;0.018)|Colorectal(212;3.48e-07)|COAD - Colon adenocarcinoma(227;2.19e-05)|BRCA - Breast invasive adenocarcinoma(304;9.46e-05)|Kidney(64;0.000171)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.0117)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGAACACGTGGCCGGGGA	0.642													A	16528979	G	A	16528979	2	1	792	1	0	0	0	0	0	0	0	1	905	1136	40	1		1	ARHGEF19	1	16528979	Silent	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		16528979	232721642	1	58292											
MUTYH	4595	broad.mit.edu	37	chr1	45796886	45796886	+	Frame_Shift_Del	DEL	G	G	-																															ggtggaaacagctgcggtgtGaaattcctcctgcgtcagcc																										TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:45796886delG	ENST00000450313.1	-	14	1659	c.1444delC	c.(1444-1446)cacfs	p.H482fs	MUTYH_ENST00000528013.2_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000456914.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372100.5_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000372104.1_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000448481.1_Frame_Shift_Del_p.H465fs|MUTYH_ENST00000372110.3_Frame_Shift_Del_p.H469fs|MUTYH_ENST00000354383.6_Frame_Shift_Del_p.H455fs|MUTYH_ENST00000355498.2_Frame_Shift_Del_p.H454fs|MUTYH_ENST00000372098.3_Frame_Shift_Del_p.H479fs|MUTYH_ENST00000372115.3_Frame_Shift_Del_p.H468fs|MUTYH_ENST00000531105.1_Intron|MUTYH_ENST00000529984.1_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000488731.2_Frame_Shift_Del_p.H149fs|MUTYH_ENST00000528332.2_Frame_Shift_Del_p.H163fs	NM_001128425.1|NM_012222.2	NP_001121897.1|NP_036354.1	Q9UIF7	MUTYH_HUMAN	mutY homolog	479	Nudix hydrolase.				depurination|mismatch repair	nucleoplasm	4 iron, 4 sulfur cluster binding|DNA N-glycosylase activity|endonuclease activity|metal ion binding|MutSalpha complex binding			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|urinary_tract(1)	19	Acute lymphoblastic leukemia(166;0.155)					GCTGCGGTGTGAAATTCCTCC	0.488			Mis			colorectal		Base excision repair (BER), DNA glycosylases	MUTYH-associated polyposis				-	45796886	G	-	45796886	7	5	792	1	0	1	0	1	0	0	0	0	10069	1290	45	0	217	0	MUTYH	1	45796886	Frame_Shift_Del	DEL	G	TCGA-WY-A85A-01A-21D-A36O-08	29267907	45796886	203453735	2	58293											
STIL	6491	broad.mit.edu	37	chr1	47748073	47748073	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	tggagaaaaatcttcatcttCaacaccagagtcgtgatcat	14	11	7	9	1	5	3	3	1	2	2	6	4	5	3	1	1	1	0	1	1	3	2			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:47748073C>T	ENST00000360380.3	-	12	1555	c.1192G>A	c.(1192-1194)Gaa>Aaa	p.E398K	STIL_ENST00000243182.6_Missense_Mutation_p.E398K|STIL_ENST00000396221.2_Missense_Mutation_p.E398K|STIL_ENST00000337817.5_Missense_Mutation_p.E398K|STIL_ENST00000371877.3_Missense_Mutation_p.E398K	NM_001282936.1	NP_001269865.1	Q15468	STIL_HUMAN	SCL/TAL1 interrupting locus	398					cell proliferation|multicellular organismal development	centrosome|cytosol				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(9)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)	36		Acute lymphoblastic leukemia(5;0.00116)|all_hematologic(5;0.00444)				TCTTCATCTTCAACACCAGAG	0.408													T	47748073	C	T	47748073	3	4	792	1	0	0	0	0	1	0	0	0	15378	835	29	2	2702	2	STIL	1	47748073	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	1951187	47748073	201502548	3	58294											
COL11A1	1301	broad.mit.edu	37	chr1	103548438	103548441	+	Frame_Shift_Del	DEL	TTCT	TTCT	-																															cagtatctgagcctttagaaTtctttctgtttgtgcaaaat																										TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:103548438_103548441delTTCT	ENST00000358392.2	-	2	511_514	c.194_197delAGAA	c.(193-198)aagaatfs	p.KN65fs	COL11A1_ENST00000370096.3_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000353414.4_Frame_Shift_Del_p.KN65fs|COL11A1_ENST00000512756.1_Frame_Shift_Del_p.KN65fs	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	65	TSP N-terminal.				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		GCCTTTAGAATTCTTTCTGTTTGT	0.358													-	103548441	TTCT	-	103548438	7	5	792	1	0	1	0	1	0	0	0	0	3698	1493	52	0	5644	0	COL11A1	1	103548438	Frame_Shift_Del	DEL	TTCT	TCGA-WY-A85A-01A-21D-A36O-08	55800365	103548438	145702183	4	58295											
ABL2	27	broad.mit.edu	37	chr1	179078464	179078464	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	aagaagccccccttcctatcCctggtgaagcatgtctcttt	8	12	7	14	0	1	2	0	1	1	1	4	2	3	2	5	1	2	1	5	1	4	3			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:179078464C>T	ENST00000502732.1	-	12	2141	c.1938G>A	c.(1936-1938)agG>agA	p.R646R	ABL2_ENST00000344730.3_Silent_p.R631R|ABL2_ENST00000367623.4_Silent_p.R625R|ABL2_ENST00000408940.3_Silent_p.R610R|ABL2_ENST00000512653.1_Silent_p.R631R|ABL2_ENST00000511413.1_Silent_p.R646R|ABL2_ENST00000507173.1_Silent_p.R625R|ABL2_ENST00000504405.1_Silent_p.R610R	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	c-abl oncogene 2, non-receptor tyrosine kinase	646					axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTCCTATCCCTGGTGAAGC	0.547			T	ETV6	AML								T	179078464	C	T	179078464	2	4	792	1	0	0	0	0	0	0	0	1	93	622	22	2		2	ABL2	1	179078464	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	75530026	179078464	70172157	5	58296											
IRF6	3664	broad.mit.edu	37	chr1	209969868	209969868	+	Translation_Start_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcagggtcatccaccccttcCtggtacttccctgtctctac	5	13	6	17	0	3	0	2	0	1	0	7	0	6	0	5	2	2	1	5	2	2	4			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr1:209969868C>A	ENST00000542854.1	-	0	203				IRF6_ENST00000367021.3_Missense_Mutation_p.Q68H	NM_001206696.1	NP_001193625.1	O14896	IRF6_HUMAN	interferon regulatory factor 6						cell cycle arrest|interferon-gamma-mediated signaling pathway|mammary gland epithelial cell differentiation|negative regulation of cell proliferation|positive regulation of transcription, DNA-dependent|type I interferon-mediated signaling pathway	cytoplasm|nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity			cervix(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)	28				OV - Ovarian serous cystadenocarcinoma(81;0.0351)		CCACCCCTTCCTGGTACTTCC	0.522										HNSCC(57;0.16)			A	209969868	C	A	209969868	1	1	792	1	0	0	0	0	0	0	0	0	7892	680	24	4		4	IRF6	1	209969868	Translation_Start_Site	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	30891404	209969868	39280753	6	58297											
EML4	27436	broad.mit.edu	37	chr2	42513476	42513476	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	actgcagattattggacttgGcacttttgagcgtggagtag	9	13	13	6	1	0	2	0	1	0	1	0	4	0	4	0	3	2	3	0	3	2	6			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:42513476G>A	ENST00000318522.5	+	10	1341	c.1079G>A	c.(1078-1080)gGc>gAc	p.G360D	EML4_ENST00000402711.2_Missense_Mutation_p.G302D|EML4_ENST00000401738.3_Missense_Mutation_p.G371D	NM_019063.3	NP_061936	Q9HC35	EMAL4_HUMAN	echinoderm microtubule associated protein like 4	360					microtubule-based process|mitosis	cytoplasm|microtubule	protein binding		EML4/ALK(543)	NS(2)|breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	12						ATTGGACTTGGCACTTTTGAG	0.428			T	ALK	NSCLC								A	42513476	G	A	42513476	3	1	792	1	0	0	0	0	1	0	0	0	5140	1203	42	2	1117	2	EML4	2	42513476	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		42513476	200685897	7	58298											
ZEB2	9839	broad.mit.edu	37	chr2	145187587	145187588	+	Frame_Shift_Del	DEL	TT	TT	-																															tgtccactacattgtcatagTtcaccactgcagaagaagca																										TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:145187587_145187588delTT	ENST00000558170.2	-	3	1263_1264	c.79_80delAA	c.(79-81)aacfs	p.N27fs	ZEB2_ENST00000303660.4_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000539609.3_Frame_Shift_Del_p.N27fs|ZEB2_ENST00000409487.3_Frame_Shift_Del_p.N27fs	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	27						cytoplasm|nucleolus	phosphatase regulator activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|SMAD binding|zinc ion binding			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		ATTGTCATAGTTCACCACTGCA	0.411													-	145187588	TT	-	145187587	7	5	792	1	0	1	0	1	0	0	0	0	17725	1725	60	0	3596	0	ZEB2	2	145187587	Frame_Shift_Del	DEL	TT	TCGA-WY-A85A-01A-21D-A36O-08	102674111	145187587	98011786	8	58299											
TTN	7273	broad.mit.edu	37	chr2	179458010	179458010	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gacatccttctagaagatcaGgaaccctaaatttagtgtat	14	12	7	8	0	2	2	1	0	1	2	3	4	3	3	2	1	1	1	2	1	7	6			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:179458010G>A	ENST00000589042.1	-	299	59149	c.58925C>T	c.(58924-58926)cCt>cTt	p.P19642L	TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.P10577L|TTN_ENST00000359218.5_Missense_Mutation_p.P10702L|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P10769L|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P17074L|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.P18001L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	titin	18001	Fibronectin type-III 42.						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TAGAAGATCAGGAACCCTAAA	0.403													A	179458010	G	A	179458010	3	1	792	1	0	0	0	0	1	0	0	0	16837	1000	35	2	49310	2	TTN	2	179458010	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	34270423	179458010	63741363	9	58300											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	792	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	29655102	209113112	34086261	10	58301											
UGT1A3	54659	broad.mit.edu	37	chr2	234638622	234638622	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggggcatcaactgtgccaacAggaagccactatctcaggtc	11	7	11	12	0	2	0	2	0	1	0	4	1	2	1	2	4	4	1	2	4	4	1			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr2:234638622A>G	ENST00000482026.1	+	1	869	c.850A>G	c.(850-852)Agg>Ggg	p.R284G	UGT1A6_ENST00000480628.1_Intron|UGT1A9_ENST00000354728.4_Intron|UGT1A1_ENST00000609637.1_Intron|UGT1A6_ENST00000373424.1_Intron|UGT1A1_ENST00000609767.1_Missense_Mutation_p.R284G|UGT1A5_ENST00000373414.3_Intron|UGT1A6_ENST00000305139.6_Intron|UGT1A7_ENST00000373426.3_Intron|UGT1A6_ENST00000406651.1_Intron|UGT1A1_ENST00000373450.4_Intron|UGT1A10_ENST00000344644.5_Intron|UGT1A1_ENST00000608381.1_Intron|UGT1A10_ENST00000373445.1_Intron|UGT1A4_ENST00000373409.3_Intron																breast(2)|endometrium(7)|kidney(18)|large_intestine(6)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	46		Breast(86;0.000765)|all_lung(227;0.00266)|Renal(207;0.00339)|all_hematologic(139;0.0116)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0456)|Lung SC(224;0.128)		Epithelial(121;2.4e-18)|BRCA - Breast invasive adenocarcinoma(100;0.000476)|Lung(119;0.00243)|LUSC - Lung squamous cell carcinoma(224;0.00599)		CTGTGCCAACAGGAAGCCACT	0.438													G	234638622	A	G	234638622	3	3	792	1	0	0	0	0	1	0	0	0	17048	179	7	3	852	3	UGT1A3	2	234638622	Missense_Mutation	SNP	A	TCGA-WY-A85A-01A-21D-A36O-08	25525510	234638622	8560751	11	58302											
NR2C2	7182	broad.mit.edu	37	chr3	15062400	15062400	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaaccgctgtcagttttgcCggctgaaaaaatgcttagag	11	10	12	8	2	1	2	1	1	0	1	1	3	1	3	2	2	3	4	2	2	5	3			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr3:15062400C>T	ENST00000425241.1	+	5	879	c.517C>T	c.(517-519)Cgg>Tgg	p.R173W	NR2C2_ENST00000406272.2_Missense_Mutation_p.R173W|NR2C2_ENST00000323373.6_Missense_Mutation_p.R192W|NR2C2_ENST00000393102.3_Missense_Mutation_p.R173W			P49116	NR2C2_HUMAN	nuclear receptor subfamily 2, group C, member 2	173					cell differentiation|nervous system development|positive regulation of transcription from RNA polymerase II promoter|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|spermatogenesis	nucleoplasm	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription coactivator activity|zinc ion binding			breast(1)|endometrium(2)|large_intestine(5)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TCAGTTTTGCCGGCTGAAAAA	0.413													T	15062400	C	T	15062400	3	4	792	1	0	0	0	0	1	0	0	0	10699	643	23	1	592	1	NR2C2	3	15062400	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		15062400	182960030	12	58303											
NKD2	85409	broad.mit.edu	37	chr5	1038447	1038449	+	In_Frame_Del	DEL	CAC	CAC	-																															agcaccaccaccaccacgagCaccaccaccaccaccaccac																								rs3840989		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:1038447_1038449delCAC	ENST00000296849.5	+	10	1544_1546	c.1315_1317delCAC	c.(1315-1317)cacdel	p.H447del	NKD2_ENST00000274150.4_3'UTR|NKD2_ENST00000382730.2_In_Frame_Del_p.P86del	NM_033120.3	NP_149111.1	Q969F2	NKD2_HUMAN	naked cuticle homolog 2 (Drosophila)	447	His-rich.				exocytosis|Wnt receptor signaling pathway	cytoplasmic membrane-bounded vesicle|plasma membrane	calcium ion binding|ubiquitin protein ligase binding			breast(1)|central_nervous_system(3)|large_intestine(1)|lung(8)|pancreas(1)	14	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;3.28e-09)		Epithelial(17;0.00093)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00417)|Lung(60;0.165)			ccaccacgagcaccaccaccacc	0.69													-	1038449	CAC	-	1038447	7	5	792	1	0	1	0	1	0	0	0	0	10518	710	25	0	1353	0	NKD2	5	1038447	In_Frame_Del	DEL	CAC	TCGA-WY-A85A-01A-21D-A36O-08		1038447	179876813	13	58304											
PCDHGB7	56099	broad.mit.edu	37	chr5	140799049	140799049	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgcgaccagggctcgcccgcGctcagcgccaatgtgagcct	6	5	13	17	6	1	1	1	1	0	0	2	2	1	1	4	1	2	2	4	1	1	0			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr5:140799049G>A	ENST00000398594.2	+	1	1623	c.1623G>A	c.(1621-1623)gcG>gcA	p.A541A	PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron	NM_018927.3	NP_061750.1														central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCTCGCCCGCGCTCAGCGCCA	0.721													A	140799049	G	A	140799049	2	1	792	1	0	0	0	0	0	0	0	1	11644	1074	38	1		1	PCDHGB7	5	140799049	Silent	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	139760602	140799049	40116211	14	58305											
CHAT	1103	broad.mit.edu	37	chr10	50863161	50863161	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gctccatcgaagactggtgcCcacctacgagagcgcgtcca	9	6	11	15	4	0	2	0	0	0	2	3	4	2	2	4	1	3	1	4	1	2	1			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr10:50863161C>T	ENST00000395562.2	+	13	1878	c.1409C>T	c.(1408-1410)cCc>cTc	p.P470L	CHAT_ENST00000337653.2_Missense_Mutation_p.P552L|CHAT_ENST00000351556.3_Missense_Mutation_p.P434L|CHAT_ENST00000455728.2_Missense_Mutation_p.P434L|CHAT_ENST00000395559.2_Missense_Mutation_p.P434L|CHAT_ENST00000339797.1_Missense_Mutation_p.P434L	NM_001142933.1|NM_001142934.1	NP_001136405|NP_001136406.1	P28329	CLAT_HUMAN	choline O-acetyltransferase	552					neurotransmitter biosynthetic process|neurotransmitter secretion	cytosol|nucleus	choline O-acetyltransferase activity			central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(11)|lung(34)|prostate(3)|urinary_tract(1)	56		all_neural(218;0.107)		GBM - Glioblastoma multiforme(2;0.000585)	Choline(DB00122)	AGACTGGTGCCCACCTACGAG	0.532													T	50863161	C	T	50863161	3	4	792	1	0	0	0	0	1	0	0	0	3343	623	22	2	1745	2	CHAT	10	50863161	Missense_Mutation	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		50863161	84671586	15	58306											
OR52L1	338751	broad.mit.edu	37	chr11	6007178	6007178	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gaatatgttcagatcaatccTtttgtgtaaacactctgagc	12	14	7	8	0	3	2	2	1	1	1	4	3	4	2	1	0	2	2	1	0	5	5			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:6007178T>C	ENST00000332249.4	-	1	1037	c.983A>G	c.(982-984)aAg>aGg	p.K328R		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	328					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGATCAATCCTTTTGTGTAAA	0.493													C	6007178	T	C	6007178	3	2	792	1	0	0	0	0	1	0	0	0	11201	1609	56	3	10	3	OR52L1	11	6007178	Missense_Mutation	SNP	T	TCGA-WY-A85A-01A-21D-A36O-08		6007178	128999338	16	58307											
TRPC6	7225	broad.mit.edu	37	chr11	101375499	101375499	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcacggagaactgtctgccgCcggtgagccagtctgttgtc	6	10	13	12	3	3	2	1	1	2	1	4	3	3	2	3	2	3	1	3	2	1	1			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr11:101375499C>T	ENST00000344327.3	-	2	625	c.201G>A	c.(199-201)cgG>cgA	p.R67R	TRPC6_ENST00000526713.1_5'UTR|TRPC6_ENST00000532133.1_Silent_p.R67R|TRPC6_ENST00000348423.4_Silent_p.R67R|TRPC6_ENST00000360497.4_Silent_p.R67R	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	67					axon guidance|platelet activation|positive regulation of calcium ion transport via store-operated calcium channel activity	integral to membrane|plasma membrane	protein binding			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		CTGTCTGCCGCCGGTGAGCCA	0.463													T	101375499	C	T	101375499	2	4	792	1	0	0	0	0	0	0	0	1	16684	726	26	2		2	TRPC6	11	101375499	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08	95368321	101375499	33631017	17	58308											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	792	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		7577121	73618089	18	58309											
ATAD5	79915	broad.mit.edu	37	chr17	29192788	29192788	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	gactgccagtgaacttatagGaaatgagttagctataaaaa	17	10	9	5	0	0	2	0	2	0	0	0	4	0	3	1	1	3	2	1	1	9	5			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr17:29192788G>A	ENST00000321990.4	+	11	3581	c.3203G>A	c.(3202-3204)gGa>gAa	p.G1068E		NM_024857.3	NP_079133.3	Q96QE3	ATAD5_HUMAN	ATPase family, AAA domain containing 5	1068					response to DNA damage stimulus	nucleus	ATP binding|nucleoside-triphosphatase activity			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(18)|lung(13)|ovary(3)|pancreas(1)	51		all_hematologic(16;0.0202)|Acute lymphoblastic leukemia(14;0.0238)|Myeloproliferative disorder(56;0.0393)				GAACTTATAGGAAATGAGTTA	0.299													A	29192788	G	A	29192788	3	1	792	1	0	0	0	0	1	0	0	0	1081	1174	41	2	3245	2	ATAD5	17	29192788	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08	21615667	29192788	52002422	19	58310											
SMARCA4	6597	broad.mit.edu	37	chr19	11132515	11132515	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	cccgccgcctgctgctgacgGgcacaccgctgcagaacaag	8	4	12	17	4	0	2	0	1	0	1	0	2	0	2	4	1	4	5	4	1	2	0			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr19:11132515G>T	ENST00000358026.2	+	19	3015	c.2731G>T	c.(2731-2733)Ggc>Tgc	p.G911C	SMARCA4_ENST00000344626.4_Missense_Mutation_p.G911C|SMARCA4_ENST00000444061.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000590574.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000413806.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000450717.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000429416.3_Missense_Mutation_p.G911C|SMARCA4_ENST00000589677.1_Missense_Mutation_p.G911C|SMARCA4_ENST00000541122.2_Missense_Mutation_p.G911C	NM_001128849.1	NP_001122321.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	911	Helicase ATP-binding.				chromatin remodeling|negative regulation of androgen receptor signaling pathway|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|nervous system development|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nBAF complex|npBAF complex|nuclear chromatin|SWI/SNF complex|WINAC complex	androgen receptor binding|ATP binding|DNA binding|DNA-dependent ATPase activity|helicase activity|histone acetyl-lysine binding|identical protein binding|p53 binding|protein N-terminus binding|transcription corepressor activity	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				GCTGCTGACGGGCACACCGCT	0.592			"F, N, Mis"		NSCLC								T	11132515	G	T	11132515	3	4	792	1	0	0	0	0	1	0	0	0	14864	1232	43	4	2801	4	SMARCA4	19	11132515	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		11132515	47996468	20	58311											
RALGAPA2	57186	broad.mit.edu	37	chr20	20484148	20484148	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ccacagtgggtggagagatcCacctgacaaaggtcacaaag	14	5	12	10	0	1	2	1	1	0	1	2	4	2	3	3	3	0	0	3	3	2	0			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr20:20484148C>T	ENST00000202677.7	-	35	5062	c.5055G>A	c.(5053-5055)gtG>gtA	p.V1685V		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)		Rap-GAP.				activation of Ral GTPase activity	cytosol|nucleus	protein heterodimerization activity|Ral GTPase activator activity			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						TGGAGAGATCCACCTGACAAA	0.463													T	20484148	C	T	20484148	2	4	792	1	0	0	0	0	0	0	0	1	13102	581	21	2		2	RALGAPA2	20	20484148	Silent	SNP	C	TCGA-WY-A85A-01A-21D-A36O-08		20484148	42541372	21	58312											
KCNJ15	3772	broad.mit.edu	37	chr21	39672106	39672106	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	cccagaggaaatctactgggGttttgagtttgtgcctgtgg	7	13	14	7	0	1	2	0	1	1	1	1	3	1	3	2	4	2	2	2	4	2	4			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chr21:39672106G>A	ENST00000328656.4	+	4	1226	c.923G>A	c.(922-924)gGt>gAt	p.G308D	KCNJ15_ENST00000398934.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398930.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398932.1_Missense_Mutation_p.G308D|KCNJ15_ENST00000398938.2_Missense_Mutation_p.G308D	NM_001276437.1|NM_001276438.1|NM_001276439.1|NM_002243.3	NP_001263366.1|NP_001263367.1|NP_001263368.1|NP_002234.2	Q99712	IRK15_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 15						synaptic transmission	integral to plasma membrane	inward rectifier potassium channel activity			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(2)|prostate(2)|skin(3)|urinary_tract(1)	24						ATCTACTGGGGTTTTGAGTTT	0.458													A	39672106	G	A	39672106	3	1	792	1	0	0	0	0	1	0	0	0	8107	1261	44	2	925	2	KCNJ15	21	39672106	Missense_Mutation	SNP	G	TCGA-WY-A85A-01A-21D-A36O-08		39672106	8457789	22	58313											
ATRX	546	broad.mit.edu	37	chrX	76855051	76855051	+	Splice_Site	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tttcccttttttcttctttcTaaaaacaaacaaacaaacaa	16	15	0	10	0	3	0	0	0	3	0	4	0	4	0	1	0	4	0	1	0	7	7			TCGA-WY-A85A-01A-21D-A36O-08	TCGA-WY-A85A-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	2aa4097c-34b5-440e-881b-a31f4903228e	76f195e9-0e81-4250-9926-30deb4f65346	g.chrX:76855051T>G	ENST00000373344.5	-	25	6001		c.e25-2		ATRX_ENST00000395603.3_Splice_Site|ATRX_ENST00000480283.1_Splice_Site	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked						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)	TTCTTCTTTCTaaaaacaaac	0.338			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						G	76855051	T	G	76855051	5	3	792	1	0	0	0	0	0	0	1	0	1213	1536	53	5	1737	5	ATRX	23	76855051	Splice_Site	SNP	T	TCGA-WY-A85A-01A-21D-A36O-08		76855051	78415509	23	58314											
HNRNPCL1	343069	broad.mit.edu	37	chr1	12907676	12907676	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tagaattgaagccacttttgCcccttcgtgaggtgtttcct	7	15	9	10	1	0	3	0	2	0	1	2	3	1	3	4	1	2	1	4	1	3	6			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:12907676C>T	ENST00000317869.6	-	2	692	c.467G>A	c.(466-468)gGc>gAc	p.G156D		NM_001013631.1|NM_001136561.2|NM_001146181.1	NP_001013653.1|NP_001130033.2|NP_001139653.1			heterogeneous nuclear ribonucleoprotein C-like 1											NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|stomach(2)	29						GCCACTTTTGCCCCTTCGTGA	0.507													T	12907676	C	T	12907676	3	4	793	1	0	0	0	0	1	0	0	0	7318	739	26	2	416	2	HNRNPCL1	1	12907676	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		12907676	236342945	1	58315											
KCNK2	3776	broad.mit.edu	37	chr1	215368303	215368303	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttttgtctccaggtggatcCgatattgaatatctggactt	8	16	10	7	1	2	1	0	1	2	0	4	4	3	3	2	3	0	1	2	3	3	6	rs149941939	by1000genomes	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr1:215368303C>T	ENST00000444842.2	+	6	981	c.831C>T	c.(829-831)tcC>tcT	p.S277S	KCNK2_ENST00000391894.2_Silent_p.S262S|KCNK2_ENST00000391895.2_Silent_p.S273S	NM_001017425.2|NM_014217.3	NP_001017425.2|NP_055032.1	O95069	KCNK2_HUMAN	potassium channel, subfamily K, member 2	277							outward rectifier potassium channel activity			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|upper_aerodigestive_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(81;0.0399)|all cancers(67;0.0556)|GBM - Glioblastoma multiforme(131;0.068)	Dofetilide(DB00204)	CAGGTGGATCCGATATTGAAT	0.373													T	215368303	C	T	215368303	2	4	793	1	0	0	0	0	0	0	0	1	8124	639	23	1		1	KCNK2	1	215368303	Silent	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08	202460627	215368303	33882318	2	58316											
RANBP2	5903	broad.mit.edu	37	chr2	109384409	109384409	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcaaaattgctgtagctgtaTtagaagaaaccacaagagag	17	8	10	6	0	0	3	0	0	0	3	0	4	0	3	1	0	3	5	1	0	8	4			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:109384409T>A	ENST00000283195.6	+	20	7540	c.7414T>A	c.(7414-7416)Tta>Ata	p.L2472I		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	2472					carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						TGTAGCTGTATTAGAAGAAAC	0.428													A	109384409	T	A	109384409	3	1	793	1	0	0	0	0	1	0	0	0	13116	1490	52	5	7492	5	RANBP2	2	109384409	Missense_Mutation	SNP	T	TCGA-WY-A85B-01A-11D-A36O-08		109384409	133814964	3	58317											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	793	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	99728704	209113113	34086260	4	58318											
BOC	91653	broad.mit.edu	37	chr3	112969621	112969621	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cactgtgggacggtaccagtGtgtggcccggatgcctgcgg	5	8	17	11	3	0	0	0	0	0	0	0	2	0	2	3	5	3	1	3	5	1	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:112969621G>T	ENST00000495514.1	+	4	1021	c.317G>T	c.(316-318)tGt>tTt	p.C106F	BOC_ENST00000355385.3_Missense_Mutation_p.C106F|BOC_ENST00000273395.4_Missense_Mutation_p.C106F|BOC_ENST00000484034.1_Missense_Mutation_p.C106F|BOC_ENST00000485230.1_Missense_Mutation_p.C106F			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	106	Ig-like C2-type 1.				cell adhesion|muscle cell differentiation|positive regulation of myoblast differentiation	integral to membrane|plasma membrane	protein binding			NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			CGGTACCAGTGTGTGGCCCGG	0.622													T	112969621	G	T	112969621	3	4	793	1	0	0	0	0	1	0	0	0	1487	1377	48	4	323	4	BOC	3	112969621	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		112969621	85052809	5	58319											
CD86	942	broad.mit.edu	37	chr3	121838286	121838287	+	Splice_Site	INS	-	-	A																															tttcttctatttctccagagINSaaaaaatccatatacctgaa																										TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr3:121838286_121838287insA	ENST00000330540.2	+	7	1011_1012	c.895_896insA	c.(895-897)gaa>gAaa	p.E299fs	CD86_ENST00000264468.5_Splice_Site_p.E86fs|CD86_ENST00000393627.2_Splice_Site_p.E293fs|CD86_ENST00000469710.1_Splice_Site_p.E217fs|CD86_ENST00000493101.1_Splice_Site_p.E187fs	NM_175862.4	NP_787058	P42081	CD86_HUMAN	CD86 molecule	299					interspecies interaction between organisms|positive regulation of cell proliferation|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-4 biosynthetic process|positive regulation of lymphotoxin A biosynthetic process|positive regulation of T-helper 2 cell differentiation|positive regulation of transcription, DNA-dependent|T cell costimulation		coreceptor activity|protein binding			breast(2)|endometrium(1)|kidney(1)|lung(11)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|urinary_tract(3)	23				GBM - Glioblastoma multiforme(114;0.156)	Abatacept(DB01281)	TTTCTCCAGAGAAAAAATCCAT	0.337													A	121838287	-	A	121838286	8	5	793	1	0	1	1	0	0	0	1	0	3073	956	33	0	921	0	CD86	3	121838286	Splice_Site	INS	-	TCGA-WY-A85B-01A-11D-A36O-08	8868665	121838286	76184144	6	58320											
MMRN1	22915	broad.mit.edu	37	chr4	90816388	90816388	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	actgcctccctcagaaacaaGtgcacctgctgagggtgtga	10	8	11	12	0	1	3	1	2	0	1	2	3	2	3	3	1	4	2	3	1	2	0			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr4:90816388G>T	ENST00000394980.1	+	2	585	c.266G>T	c.(265-267)aGt>aTt	p.S89I	MMRN1_ENST00000394981.1_Intron|MMRN1_ENST00000264790.2_Missense_Mutation_p.S89I			Q13201	MMRN1_HUMAN	multimerin 1	89					cell adhesion|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen				breast(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(12)|liver(2)|lung(34)|ovary(5)|prostate(1)|skin(6)|stomach(1)|urinary_tract(2)	72		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;6.96e-05)		TCAGAAACAAGTGCACCTGCT	0.493													T	90816388	G	T	90816388	3	4	793	1	0	0	0	0	1	0	0	0	9746	1029	36	4	268	4	MMRN1	4	90816388	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		90816388	100337888	7	58321											
CDO1	1036	broad.mit.edu	37	chr5	115142186	115142186	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaggttccgtatggctgaTgttctctactcgatgtaagc	8	13	11	9	2	1	1	0	1	1	0	4	2	2	1	1	2	3	6	1	2	3	5			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr5:115142186T>C	ENST00000250535.4	-	4	989	c.433A>G	c.(433-435)Atc>Gtc	p.I145V	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	145					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)	GTATGGCTGATGTTCTCTACT	0.413													C	115142186	T	C	115142186	3	2	793	1	0	0	0	0	1	0	0	0	3199	1464	51	3	177	3	CDO1	5	115142186	Missense_Mutation	SNP	T	TCGA-WY-A85B-01A-11D-A36O-08		115142186	65773074	8	58322											
C8orf34	116328	broad.mit.edu	37	chr8	69434080	69434080	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	tctgaggccccgtgtgattgGagaatggattggtagagaag	10	10	16	5	1	1	4	0	2	1	2	1	7	1	5	2	4	0	1	2	4	3	3			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr8:69434080G>A	ENST00000337103.4	+	5	2071	c.479G>A	c.(478-480)gGa>gAa	p.G160E	C8orf34_ENST00000348340.2_Missense_Mutation_p.G185E|C8orf34_ENST00000539993.1_Missense_Mutation_p.G185E|C8orf34_ENST00000349492.3_3'UTR|C8orf34_ENST00000518698.1_Missense_Mutation_p.G271E			Q49A92	CH034_HUMAN	chromosome 8 open reading frame 34	185					signal transduction		cAMP-dependent protein kinase regulator activity			NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(9)|lung(12)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	36			Epithelial(68;0.0117)|OV - Ovarian serous cystadenocarcinoma(28;0.0227)|all cancers(69;0.0502)			CGTGTGATTGGAGAATGGATT	0.403													A	69434080	G	A	69434080	3	1	793	1	0	0	0	0	1	0	0	0	2447	1174	41	2	497	2	C8orf34	8	69434080	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		69434080	76929942	9	58323											
OR51T1	401665	broad.mit.edu	37	chr11	4903765	4903765	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctctacctgaatggcactgaCgtattgtttattcttttctc	7	18	6	10	1	3	2	0	2	3	0	4	2	3	2	1	1	1	3	1	1	4	8	rs138268565		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:4903765C>T	ENST00000380378.1	+	1	717	c.717C>T	c.(715-717)gaC>gaT	p.D239D	MMP26_ENST00000477339.1_Intron|MMP26_ENST00000380390.1_Intron|OR51T1_ENST00000322049.1_Silent_p.D212D	NM_001004759.1	NP_001004759.1	Q8NGJ9	O51T1_HUMAN	olfactory receptor, family 51, subfamily T, member 1	212					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			NS(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34		Medulloblastoma(188;0.0075)|all_neural(188;0.0577)|Breast(177;0.086)		Epithelial(150;4.77e-12)|BRCA - Breast invasive adenocarcinoma(625;0.00435)|LUSC - Lung squamous cell carcinoma(625;0.19)		ATGGCACTGACGTATTGTTTA	0.443													T	4903765	C	T	4903765	2	4	793	1	0	0	0	0	0	0	0	1	11182	535	19	1		1	OR51T1	11	4903765	Silent	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		4903765	130102751	10	58324											
KCNA4	3739	broad.mit.edu	37	chr11	30033344	30033344	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	tctggatattcaaagaggagCcaaatctgctttttaaattc	13	14	7	7	0	3	1	1	0	2	1	4	3	3	3	1	2	2	1	1	2	5	6			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr11:30033344C>G	ENST00000328224.6	-	2	2115	c.882G>C	c.(880-882)tgG>tgC	p.W294C		NM_002233.3	NP_002224.1	P22459	KCNA4_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 4	294						voltage-gated potassium channel complex	potassium ion binding|protein binding|voltage-gated potassium channel activity			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(39)|ovary(3)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	78						CAAAGAGGAGCCAAATCTGCT	0.507													G	30033344	C	G	30033344	3	3	793	1	0	0	0	0	1	0	0	0	8063	740	26	4	1083	4	KCNA4	11	30033344	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08	25129579	30033344	104973172	11	58325											
ACVRL1	94	broad.mit.edu	37	chr12	52312879	52312879	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agcagacccccaccatccctAaccggctggctgcagacccg	9	4	9	19	2	0	2	0	0	0	2	1	2	1	2	6	2	3	4	6	2	1	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr12:52312879A>G	ENST00000550683.1	+	8	1500	c.1399A>G	c.(1399-1401)Aac>Gac	p.N467D	ACVRL1_ENST00000388922.4_Missense_Mutation_p.N453D|ACVRL1_ENST00000419526.2_Missense_Mutation_p.N279D	NM_001077401.1	NP_001070869.1	P37023	ACVL1_HUMAN	activin A receptor type II-like 1	453	Protein kinase.				blood vessel endothelial cell proliferation involved in sprouting angiogenesis|blood vessel maturation|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of endothelial cell migration|negative regulation of focal adhesion assembly|positive regulation of BMP signaling pathway|positive regulation of transcription, DNA-dependent|regulation of blood pressure|regulation of blood vessel endothelial cell migration|regulation of DNA replication|regulation of endothelial cell proliferation|transforming growth factor beta receptor signaling pathway|wound healing, spreading of epidermal cells	cell surface|integral to plasma membrane	activin binding|activin receptor activity, type I|ATP binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|SMAD binding|transforming growth factor beta binding|transforming growth factor beta receptor activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|urinary_tract(1)	20				BRCA - Breast invasive adenocarcinoma(357;0.0991)	Adenosine triphosphate(DB00171)	CACCATCCCTAACCGGCTGGC	0.587													G	52312879	A	G	52312879	3	3	793	1	0	0	0	0	1	0	0	0	225	362	13	3	1387	3	ACVRL1	12	52312879	Missense_Mutation	SNP	A	TCGA-WY-A85B-01A-11D-A36O-08		52312879	81539016	12	58326											
RYR3	6263	broad.mit.edu	37	chr15	33955132	33955132	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	tgttgcagactcgattacccGaatccgtcaagctgcaggta	10	10	10	11	3	1	1	1	0	0	1	3	3	2	1	2	1	4	5	2	1	4	3			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr15:33955132G>A	ENST00000389232.4	+	35	5471	c.5401G>A	c.(5401-5403)Gaa>Aaa	p.E1801K	RYR3_ENST00000415757.3_Missense_Mutation_p.E1801K	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	1801	4 X approximate repeats.				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		TCGATTACCCGAATCCGTCAA	0.512													A	33955132	G	A	33955132	3	1	793	1	0	0	0	0	1	0	0	0	13861	1059	37	1	5539	1	RYR3	15	33955132	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		33955132	68576260	13	58327											
MPG	4350	broad.mit.edu	37	chr16	133194	133194	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	cgaggcatgttcatgaagccGgggaccctgtacgtgtacat	9	9	13	10	3	1	1	1	1	0	0	1	3	1	2	2	3	3	4	2	3	3	3	rs4986985	byFrequency	TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr16:133194G>A	ENST00000219431.4	+	4	690	c.459G>A	c.(457-459)ccG>ccA	p.P153P	MPG_ENST00000397817.1_Silent_p.P136P	NM_002434.3	NP_002425.2	P29372	3MG_HUMAN	N-methylpurine-DNA glycosylase	153					depurination|DNA dealkylation involved in DNA repair	nucleoplasm	alkylbase DNA N-glycosylase activity|damaged DNA binding|identical protein binding			endometrium(4)|kidney(1)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	9		all_cancers(16;9.01e-08)|all_epithelial(16;7.64e-07)|Hepatocellular(780;0.000325)|Lung NSC(18;0.0104)|all_lung(18;0.0239)				TCATGAAGCCGGGGACCCTGT	0.632								Base excision repair (BER), DNA glycosylases					A	133194	G	A	133194	2	1	793	1	0	0	0	0	0	0	0	1	9800	1103	39	1		1	MPG	16	133194	Silent	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		133194	90221559	14	58328											
TP53	7157	broad.mit.edu	37	chr17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cccaggacaggcacaaacacGcacctcaaagctgttccgtc	12	5	8	16	2	1	0	1	0	0	0	3	1	2	1	3	2	2	4	3	2	2	1	rs121913343		TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:7577121G>A	ENST00000420246.2	-	8	949	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	273	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)			A	7577121	G	A	7577121	3	1	793	1	0	0	0	0	1	0	0	0	16482	1087	38	1	469	1	TP53	17	7577121	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08		7577121	73618089	15	58329											
RAI1	10743	broad.mit.edu	37	chr17	17698750	17698750	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtgggctgctgcagtgccccGaggtggccaaggctgaccgg	5	6	18	12	2	0	1	0	1	0	0	0	2	0	1	4	5	3	4	4	5	1	0			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:17698750G>A	ENST00000353383.1	+	3	2957	c.2488G>A	c.(2488-2490)Gag>Aag	p.E830K	RAI1_ENST00000261641.6_Missense_Mutation_p.E830K	NM_030665.3	NP_109590.3	Q7Z5J4	RAI1_HUMAN	retinoic acid induced 1	830						cytoplasm|nucleus	zinc ion binding			breast(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(14)|ovary(1)|prostate(1)|skin(5)|urinary_tract(7)	48				READ - Rectum adenocarcinoma(1115;0.0276)		GCAGTGCCCCGAGGTGGCCAA	0.692													A	17698750	G	A	17698750	3	1	793	1	0	0	0	0	1	0	0	0	13095	1059	37	1	2490	1	RAI1	17	17698750	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	10121629	17698750	63496460	16	58330											
TBCD	6904	broad.mit.edu	37	chr17	80885834	80885834	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tctgacacttctgctggctcGgagccagcctgagctgatcg	6	10	12	13	2	2	3	0	3	2	0	4	4	2	4	2	2	4	3	2	2	0	1			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr17:80885834G>T	ENST00000355528.4	+	30	2793	c.2663G>T	c.(2662-2664)cGg>cTg	p.R888L	TBCD_ENST00000539345.2_Missense_Mutation_p.R888L	NM_005993.4	NP_005984.3	Q9BTW9	TBCD_HUMAN	tubulin folding cofactor D	888					'de novo' posttranslational protein folding|adherens junction assembly|negative regulation of cell-substrate adhesion|negative regulation of microtubule polymerization|post-chaperonin tubulin folding pathway|tight junction assembly	adherens junction|cytoplasm|lateral plasma membrane|microtubule|tight junction	beta-tubulin binding|chaperone binding|GTPase activator activity					Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0266)|all_epithelial(8;0.0696)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.18)			CTGCTGGCTCGGAGCCAGCCT	0.637													T	80885834	G	T	80885834	3	4	793	1	0	0	0	0	1	0	0	0	15733	1116	39	4	2781	4	TBCD	17	80885834	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	63187084	80885834	309376	17	58331											
PPM1F	9647	broad.mit.edu	37	chr22	22285639	22285639	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcctgcaatgagcgcacacaCacctgtggtgccgctctgca	8	8	10	15	2	1	1	0	1	1	0	2	1	2	1	3	1	4	4	3	1	1	0			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:22285639C>T	ENST00000407142.1	-	4	1328	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	PPM1F_ENST00000263212.5_Missense_Mutation_p.V258M|PPM1F_ENST00000538191.1_Missense_Mutation_p.V154M|PPM1F_ENST00000397495.4_Missense_Mutation_p.V258M			P49593	PPM1F_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1F	258					apoptosis|protein dephosphorylation	protein serine/threonine phosphatase complex	metal ion binding|protein serine/threonine phosphatase activity			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	12	Colorectal(54;0.105)			READ - Rectum adenocarcinoma(21;0.155)		AGCGCACACACACCTGTGGTG	0.622													T	22285639	C	T	22285639	3	4	793	1	0	0	0	0	1	0	0	0	12421	478	17	2	604	2	PPM1F	22	22285639	Missense_Mutation	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		22285639	29018927	18	58332											
RFPL2	10739	broad.mit.edu	37	chr22	32588988	32588988	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctctagctgccgattgcGcctgattttgttcttccgag	4	15	9	13	3	2	1	0	1	2	0	4	3	3	1	4	0	3	2	4	0	1	6			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chr22:32588988G>A	ENST00000400236.3	-	4	1392	c.187C>T	c.(187-189)Cgc>Tgc	p.R63C	RFPL2_ENST00000489846.1_5'UTR|RFPL2_ENST00000248980.4_Missense_Mutation_p.R92C|RFPL2_ENST00000400237.1_Missense_Mutation_p.R153C|RFPL2_ENST00000248983.4_Missense_Mutation_p.R63C	NM_001098527.2	NP_001091997.2	O75678	RFPL2_HUMAN	ret finger protein-like 2	153							zinc ion binding			endometrium(2)|kidney(4)|large_intestine(3)|lung(9)|ovary(1)|skin(2)	21						TGCCGATTGCGCCTGATTTTG	0.522													A	32588988	G	A	32588988	3	1	793	1	0	0	0	0	1	0	0	0	13342	1087	38	1	687	1	RFPL2	22	32588988	Missense_Mutation	SNP	G	TCGA-WY-A85B-01A-11D-A36O-08	10303349	32588988	18715578	19	58333											
ATRX	546	broad.mit.edu	37	chrX	76845304	76845304	+	Splice_Site	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaaatatttgtagctcacCtttataaataaggggtttat	14	15	7	5	0	1	1	1	0	0	1	1	1	1	1	1	2	1	3	1	2	8	9			TCGA-WY-A85B-01A-11D-A36O-08	TCGA-WY-A85B-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	4ee529a1-6577-4e99-9b07-8399e6b02b53	38a6ec3f-e917-49b1-8d02-13793403b672	g.chrX:76845304C>T	ENST00000373344.5	-	27	6431	c.6217G>A	c.(6217-6219)Ggt>Agt	p.G2073S	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Splice_Site_p.G2035S	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2073	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)	TGTAGCTCACCTTTATAAATA	0.323			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76845304	C	T	76845304	5	4	793	1	0	0	0	0	0	0	1	0	1213	695	24	2	1297	2	ATRX	23	76845304	Splice_Site	SNP	C	TCGA-WY-A85B-01A-11D-A36O-08		76845304	78425256	20	58334											
COL24A1	255631	broad.mit.edu	37	chr1	86591609	86591609	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ctactaattttttaggtagtAattgtactcctaattgcagt	11	18	6	6	0	0	0	0	0	0	0	1	0	1	0	1	1	3	4	1	1	7	11			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:86591609A>T	ENST00000370571.2	-	3	776	c.410T>A	c.(409-411)tTa>tAa	p.L137*	COL24A1_ENST00000436319.1_Nonsense_Mutation_p.L137*	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	137	TSP N-terminal.				cell adhesion	collagen	extracellular matrix structural constituent			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTTAGGTAGTAATTGTACTCC	0.363													T	86591609	A	T	86591609	4	4	794	1	0	0	0	0	0	1	0	0	3714	372	13	5	4966	5	COL24A1	1	86591609	Nonsense_Mutation	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08		86591609	162659012	1	58335											
LRRC52	440699	broad.mit.edu	37	chr1	165532816	165532816	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cccgggtggggaacccactcCgatacatgtgcatcacgcac	9	6	11	15	3	1	0	1	0	0	0	2	2	2	1	3	3	3	2	3	3	2	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:165532816C>T	ENST00000294818.1	+	2	987	c.697C>T	c.(697-699)Cga>Tga	p.R233*	RP11-280O1.2_ENST00000416424.1_RNA|RP11-280O1.2_ENST00000438275.1_RNA|RP11-280O1.2_ENST00000421273.1_RNA	NM_001005214.3	NP_001005214.2	Q8N7C0	LRC52_HUMAN	leucine rich repeat containing 52	233	LRRCT.					integral to membrane				NS(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)	18	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					GAACCCACTCCGATACATGTG	0.567													T	165532816	C	T	165532816	4	4	794	1	0	0	0	0	0	1	0	0	9080	644	23	1	703	1	LRRC52	1	165532816	Nonsense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	78941207	165532816	83717805	2	58336											
FAM129A	116496	broad.mit.edu	37	chr1	184777346	184777346	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	atcttcacggaatgcagcggAagattcataagccggtctag	12	9	11	9	3	4	1	2	0	2	1	4	3	4	3	1	3	3	1	1	3	4	4			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr1:184777346A>G	ENST00000367511.3	-	10	1390	c.1197T>C	c.(1195-1197)ctT>ctC	p.L399L	FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	399					negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						AATGCAGCGGAAGATTCATAA	0.453													G	184777346	A	G	184777346	2	3	794	1	0	0	0	0	0	0	0	1	5481	233	9	3		3	FAM129A	1	184777346	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08	19244530	184777346	64473275	3	58337											
IDH1	3417	broad.mit.edu	37	chr2	209113113	209113113	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	1	0	0	0	0	ttgatccccataagcatgacGacctatgatgataggtttta	12	13	8	8	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	4	6	rs121913499		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr2:209113113G>C	ENST00000415913.1	-	4	775	c.394C>G	c.(394-396)Cgt>Ggt	p.R132G	IDH1_ENST00000345146.2_Missense_Mutation_p.R132G|IDH1_ENST00000446179.1_Missense_Mutation_p.R132G	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.R132C(446)|p.R132G(125)|p.R132S(106)|p.G131_R132>VL(1)|p.R132V(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)		TAAGCATGACGACCTATGATG	0.398			Mis		gliobastoma								C	209113113	G	C	209113113	3	2	794	1	0	0	0	0	1	0	0	0	7552	1058	37	4	878	4	IDH1	2	209113113	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		209113113	34086260	4	58338											
CCKAR	886	broad.mit.edu	37	chr4	26483533	26483533	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cgctctgcggaggcggtgtcGtaggcccgccaggcgttggc	3	7	18	13	6	1	0	0	0	1	0	2	1	1	1	2	6	1	3	2	6	1	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:26483533G>A	ENST00000295589.3	-	5	1208	c.1014C>T	c.(1012-1014)taC>taT	p.Y338Y		NM_000730.2	NP_000721.1	P32238	CCKAR_HUMAN	cholecystokinin A receptor	338					activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|elevation of cytosolic calcium ion concentration|response to nutrient	integral to plasma membrane	cholecystokinin receptor activity	p.Y338Y(1)		NS(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|liver(1)|lung(14)|pancreas(1)|skin(1)	29		Breast(46;0.0503)			Ceruletide(DB00403)	AGGCGGTGTCGTAGGCCCGCC	0.597													A	26483533	G	A	26483533	2	1	794	1	0	0	0	0	0	0	0	1	2908	1140	40	1		1	CCKAR	4	26483533	Silent	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		26483533	164670743	5	58339											
SNX25	83891	broad.mit.edu	37	chr4	186263216	186263216	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	0	1	0	0	0	ggagttgaaactaagaactgGacggtccccagaaggctcag	13	6	13	9	1	1	3	1	1	0	2	2	5	2	5	2	4	2	2	2	4	4	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr4:186263216G>A	ENST00000504273.1	+	12	1935	c.1641G>A	c.(1639-1641)tgG>tgA	p.W547*	SNX25_ENST00000264694.8_Nonsense_Mutation_p.W547*|SNX25_ENST00000512853.1_3'UTR			Q9H3E2	SNX25_HUMAN	sorting nexin 25	547	PX.				cell communication|protein transport	endosome membrane	phosphatidylinositol binding|signal transducer activity			NS(1)|breast(4)|endometrium(2)|kidney(4)|large_intestine(8)|lung(13)|ovary(2)|pancreas(2)|prostate(2)|urinary_tract(2)	40		all_lung(41;1.03e-13)|Lung NSC(41;2.5e-13)|Hepatocellular(41;0.00826)|Colorectal(36;0.00886)|Renal(120;0.00988)|Prostate(90;0.0235)|all_hematologic(60;0.0592)|all_neural(102;0.243)		all cancers(43;2.13e-24)|Epithelial(43;6.15e-22)|OV - Ovarian serous cystadenocarcinoma(60;5.6e-11)|BRCA - Breast invasive adenocarcinoma(30;0.00013)|Colorectal(24;0.000165)|GBM - Glioblastoma multiforme(59;0.000357)|COAD - Colon adenocarcinoma(29;0.000887)|STAD - Stomach adenocarcinoma(60;0.00118)|LUSC - Lung squamous cell carcinoma(40;0.0129)|READ - Rectum adenocarcinoma(43;0.228)		CTAAGAACTGGACGGTCCCCA	0.433													A	186263216	G	A	186263216	4	1	794	1	0	0	0	0	0	1	0	0	14990	1183	41	2	1683	2	SNX25	4	186263216	Nonsense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08	159779683	186263216	4891060	6	58340											
DDX4	54514	broad.mit.edu	37	chr5	55083767	55083767	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aggaaccagagtgtattattGtagcaccaactcgagaattg	14	10	10	7	1	0	2	0	0	0	2	1	4	0	3	2	1	3	3	2	1	6	5			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:55083767G>T	ENST00000505374.1	+	15	1203	c.1111G>T	c.(1111-1113)Gta>Tta	p.V371L	DDX4_ENST00000514278.2_Missense_Mutation_p.V351L|DDX4_ENST00000353507.5_Missense_Mutation_p.V337L|DDX4_ENST00000354991.5_Missense_Mutation_p.V337L|DDX4_ENST00000511853.1_Missense_Mutation_p.V222L	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	371	Helicase ATP-binding.				multicellular organismal development|sperm motility	perinuclear region of cytoplasm|pi-body|piP-body	ATP binding|ATP-dependent helicase activity|nucleic acid binding			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				GTGTATTATTGTAGCACCAAC	0.388													T	55083767	G	T	55083767	3	4	794	1	0	0	0	0	1	0	0	0	4394	1377	48	4	1206	4	DDX4	5	55083767	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		55083767	125831493	7	58341											
SLIT3	6586	broad.mit.edu	37	chr5	168310292	168310292	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gttcttcacatcggtgatgcCgcggaacgccttcctcggga	6	10	12	13	5	2	1	1	1	1	0	5	3	3	3	3	3	2	1	3	3	1	3			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr5:168310292C>T	ENST00000519560.1	-	5	882	c.463G>A	c.(463-465)Ggc>Agc	p.G155S	SLIT3_ENST00000332966.8_Missense_Mutation_p.G155S|SLIT3_ENST00000404867.3_Missense_Mutation_p.G155S	NM_001271946.1|NM_003062.2	NP_001258875.1|NP_003053	O75094	SLIT3_HUMAN	slit homolog 3 (Drosophila)	155					apoptosis involved in luteolysis|axon extension involved in axon guidance|cellular response to hormone stimulus|negative chemotaxis|negative regulation of cell growth|negative regulation of chemokine-mediated signaling pathway|response to cortisol stimulus|Roundabout signaling pathway	extracellular space|mitochondrion	calcium ion binding|Roundabout binding			endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(15)|liver(2)|lung(48)|ovary(4)|prostate(7)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	100	Renal(175;0.000159)|Lung NSC(126;0.0174)|all_lung(126;0.0392)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCGGTGATGCCGCGGAACGCC	0.502													T	168310292	C	T	168310292	3	4	794	1	0	0	0	0	1	0	0	0	14835	652	23	1	4236	1	SLIT3	5	168310292	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	113226525	168310292	12604968	8	58342											
GPRC6A	222545	broad.mit.edu	37	chr6	117130667	117130667	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ttgccactgtgacttctgtaCaagtgtcatagatttcatac	10	15	7	9	0	3	2	2	1	1	1	3	2	3	2	1	0	3	1	1	0	4	6			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117130667C>A	ENST00000310357.3	-	2	329	c.308G>T	c.(307-309)tGt>tTt	p.C103F	GPRC6A_ENST00000530250.1_Missense_Mutation_p.C103F|GPRC6A_ENST00000368549.3_Missense_Mutation_p.C103F	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	103					response to amino acid stimulus		G-protein coupled receptor activity	p.C103F(1)		autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GACTTCTGTACAAGTGTCATA	0.413													A	117130667	C	A	117130667	3	1	794	1	0	0	0	0	1	0	0	0	6783	478	17	4	2492	4	GPRC6A	6	117130667	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		117130667	53984400	9	58343											
ROS1	6098	broad.mit.edu	37	chr6	117663696	117663696	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tcttcaataagagctatactGtcctgaaattcctgtaattg	12	15	6	8	0	2	2	1	1	1	1	4	2	4	2	2	0	2	2	2	0	6	7			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr6:117663696G>C	ENST00000368508.3	-	28	4734	c.4536C>G	c.(4534-4536)gaC>gaG	p.D1512E	ROS1_ENST00000368507.3_Missense_Mutation_p.D1506E|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN	c-ros oncogene 1 , receptor tyrosine kinase	1512	Fibronectin type-III 6.				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GAGCTATACTGTCCTGAAATT	0.259			T	"GOPC, SDC4, SLC34A2, EZR, LRIG3"	"glioblastoma, NSCLC"								C	117663696	G	C	117663696	3	2	794	1	0	0	0	0	1	0	0	0	13622	1368	48	4	2571	4	ROS1	6	117663696	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08	533029	117663696	53451371	10	58344											
DNAH11	8701	broad.mit.edu	37	chr7	21781718	21781718	+	Frame_Shift_Del	DEL	C	C	-																															catcagacaatgatgtgtaaCtttttacccacggctattaa																										TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:21781718delC	ENST00000328843.6	+	50	8140	c.8109delC	c.(8107-8109)aacfs	p.N2703fs	DNAH11_ENST00000409508.3_Frame_Shift_Del_p.N2696fs			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2703	AAA 3 (By similarity).				microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGATGTGTAACTTTTTACCCA	0.418									Kartagener syndrome				-	21781718	C	-	21781718	7	5	794	1	0	1	0	1	0	0	0	0	4638	564	20	0	8304	0	DNAH11	7	21781718	Frame_Shift_Del	DEL	C	TCGA-WY-A85C-01A-11D-A36O-08		21781718	137356945	11	58345											
OR2A12	346525	broad.mit.edu	37	chr7	143792751	143792751	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtcaaatcatgtccgtatTcaaattggcctgtgctgaca	10	13	8	10	1	3	1	3	1	0	0	4	1	4	1	2	1	1	2	2	1	3	3			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr7:143792751T>A	ENST00000408949.2	+	1	611	c.551T>A	c.(550-552)tTc>tAc	p.F184Y		NM_001004135.1	NP_001004135.1	Q8NGT7	O2A12_HUMAN	olfactory receptor, family 2, subfamily A, member 12	184					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(14)|ovary(2)	25	Melanoma(164;0.0783)					ATGTCCGTATTCAAATTGGCC	0.493													A	143792751	T	A	143792751	3	1	794	1	0	0	0	0	1	0	0	0	11051	1783	62	5	553	5	OR2A12	7	143792751	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	122011033	143792751	15345912	12	58346											
GEM	2669	broad.mit.edu	37	chr8	95272441	95272441	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccatgctgtcatgcacAcctgcaaagatgttggccag	9	10	10	12	0	1	1	1	0	0	1	2	1	2	1	3	1	3	4	3	1	1	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr8:95272441A>G	ENST00000297596.2	-	2	555	c.291T>C	c.(289-291)ggT>ggC	p.G97G	GEM_ENST00000396194.2_Silent_p.G97G	NM_005261.3	NP_005252.1	P55040	GEM_HUMAN	GTP binding protein overexpressed in skeletal muscle	97					cell surface receptor linked signaling pathway|immune response|small GTPase mediated signal transduction	internal side of plasma membrane	calmodulin binding|GDP binding|GTP binding|GTPase activity|magnesium ion binding			endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	22	Breast(36;4.65e-06)	Myeloproliferative disorder(644;0.204)	BRCA - Breast invasive adenocarcinoma(8;0.00691)			TGTCATGCACACCTGCAAAGA	0.592													G	95272441	A	G	95272441	2	3	794	1	0	0	0	0	0	0	0	1	6385	146	6	3		3	GEM	8	95272441	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08		95272441	51091581	13	58347											
SLK	9748	broad.mit.edu	37	chr10	105765409	105765409	+	Frame_Shift_Del	DEL	A	A	-																															taacaacatcaaagatagttAcagatagtgattccaaaact																										TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr10:105765409delA	ENST00000369755.3	+	10	2985	c.2440delA	c.(2440-2442)acafs	p.T814fs	SLK_ENST00000335753.4_Frame_Shift_Del_p.T814fs	NM_014720.2	NP_055535.2	Q9H2G2	SLK_HUMAN	STE20-like kinase	814					apoptosis|nucleotide-excision repair	cytoplasm|plasma membrane	ATP binding|DNA binding|nuclease activity|protein serine/threonine kinase activity			kidney(1)|lung(1)|ovary(2)|skin(2)|stomach(2)	8		Colorectal(252;0.178)		Epithelial(162;5.81e-10)|all cancers(201;2.35e-08)|BRCA - Breast invasive adenocarcinoma(275;0.0165)		AAAGATAGTTACAGATAGTGA	0.343													-	105765409	A	-	105765409	7	5	794	1	0	1	0	1	0	0	0	0	14842	391	14	0	2478	0	SLK	10	105765409	Frame_Shift_Del	DEL	A	TCGA-WY-A85C-01A-11D-A36O-08		105765409	29769338	14	58348											
OR10A4	283297	broad.mit.edu	37	chr11	6898108	6898108	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggagataggtttcaacttggTcattgtgcccaagatgctgg	9	12	13	7	0	2	2	2	0	0	2	2	3	2	2	1	4	3	2	1	4	3	4			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:6898108T>C	ENST00000379829.2	+	1	253	c.230T>C	c.(229-231)gTc>gCc	p.V77A		NM_207186.2	NP_997069.2	Q9H209	O10A4_HUMAN	olfactory receptor, family 10, subfamily A, member 4	77					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(2)|liver(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31		Medulloblastoma(188;0.0523)|all_neural(188;0.236)		Epithelial(150;4.78e-08)|BRCA - Breast invasive adenocarcinoma(625;0.129)		TTCAACTTGGTCATTGTGCCC	0.458													C	6898108	T	C	6898108	3	2	794	1	0	0	0	0	1	0	0	0	10968	1667	58	3	232	3	OR10A4	11	6898108	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08		6898108	128108408	15	58349											
PHLDB1	23187	broad.mit.edu	37	chr11	118513008	118513021	+	Frame_Shift_Del	DEL	CAGTGGTACCAGGA	CAGTGGTACCAGGA	-																															tccctgctgtagacttagagCagtggtaccaggagctgatg																										TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr11:118513008_118513021delCAGTGGTACCAGGA	ENST00000361417.2	+	14	3184_3197	c.2773_2786delCAGTGGTACCAGGA	c.(2773-2787)cagtggtaccaggagfs	p.QWYQE925fs	PHLDB1_ENST00000534672.1_Intron|PHLDB1_ENST00000524713.1_Frame_Shift_Del_p.QWYQE68fs|PHLDB1_ENST00000527898.1_Intron|PHLDB1_ENST00000356063.5_Intron	NM_015157.3	NP_055972.1	Q86UU1	PHLB1_HUMAN	pleckstrin homology-like domain, family B, member 1	925										breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(10)|liver(3)|lung(14)|ovary(2)|pancreas(1)|prostate(3)|skin(1)	46	all_hematologic(175;0.0839)	Medulloblastoma(222;0.0523)|all_hematologic(192;0.0735)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.4e-05)		AGACTTAGAGCAGTGGTACCAGGAGCTGATGGCC	0.64													-	118513021	CAGTGGTACCAGGA	-	118513008	7	5	794	1	0	1	0	1	0	0	0	0	11928	711	25	0	2819	0	PHLDB1	11	118513008	Frame_Shift_Del	DEL	CAGTGGTACCAGGA	TCGA-WY-A85C-01A-11D-A36O-08	111614900	118513008	16493508	16	58350											
CHD4	1108	broad.mit.edu	37	chr12	6690297	6690297	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tccctcagggggttcaacaaCgaccttttcatcctctgagg	8	11	9	13	1	4	1	3	1	1	0	6	2	6	1	3	3	2	1	3	3	2	3			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:6690297C>T	ENST00000309577.6	-	32	5069	c.4906G>A	c.(4906-4908)Gtt>Att	p.V1636I	RP5-940J5.6_ENST00000501075.2_RNA|CHD4_ENST00000357008.2_Missense_Mutation_p.V1608I|CHD4_ENST00000544040.1_Missense_Mutation_p.V1601I|CHD4_ENST00000544484.1_Missense_Mutation_p.V1633I			Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1608	Required for interaction with PCNT.				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding			central_nervous_system(2)	2						GGTTCAACAACGACCTTTTCA	0.478													T	6690297	C	T	6690297	3	4	794	1	0	0	0	0	1	0	0	0	3357	536	19	1	948	1	CHD4	12	6690297	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		6690297	127161598	17	58351											
MDM2	4193	broad.mit.edu	37	chr12	69210669	69210669	+	Silent	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacatattgtatattgttcAaatgatcttctaggagattt	13	17	6	5	0	3	2	1	1	2	1	3	3	3	2	0	1	1	2	0	1	6	9			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr12:69210669A>C	ENST00000462284.1	+	4	554	c.252A>C	c.(250-252)tcA>tcC	p.S84S	MDM2_ENST00000517852.1_Intron|MDM2_ENST00000356290.4_Intron|MDM2_ENST00000393410.1_Intron|MDM2_ENST00000258149.5_Silent_p.S78S|MDM2_ENST00000540827.1_Intron|MDM2_ENST00000428863.2_Intron|MDM2_ENST00000393412.3_Intron|MDM2_ENST00000258148.7_Silent_p.S84S|MDM2_ENST00000350057.5_Silent_p.S53S|MDM2_ENST00000544561.1_Intron|MDM2_ENST00000478070.1_Intron|MDM2_ENST00000348801.2_Intron|MDM2_ENST00000360430.2_Intron|MDM2_ENST00000545204.1_Intron|MDM2_ENST00000393413.3_Intron|MDM2_ENST00000299252.4_Intron	NM_002392.4	NP_002383.2	Q00987	MDM2_HUMAN	MDM2 oncogene, E3 ubiquitin protein ligase	78	Necessary for interaction with USP2.|SWIB.				cellular response to hypoxia|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|establishment of protein localization|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell cycle arrest|negative regulation of DNA damage response, signal transduction by p53 class mediator|negative regulation of transcription from RNA polymerase II promoter|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|positive regulation of cell proliferation|positive regulation of mitotic cell cycle|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|protein complex assembly|protein destabilization|protein localization to nucleus|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to antibiotic|synaptic transmission	cytosol|endocytic vesicle membrane|insoluble fraction|nucleolus|nucleoplasm|plasma membrane|protein complex	enzyme binding|identical protein binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|liver(2)|lung(8)|prostate(1)|urinary_tract(1)	19	all_cancers(1;8.46e-121)|all_epithelial(5;3.21e-36)|Lung NSC(4;2.16e-33)|all_lung(4;3.03e-31)|Glioma(1;1.9e-09)|Breast(13;1.59e-06)|all_neural(1;1.03e-05)|Melanoma(1;0.0171)|Renal(347;0.0684)		all cancers(2;8.67e-65)|GBM - Glioblastoma multiforme(2;8.89e-62)|BRCA - Breast invasive adenocarcinoma(5;2.43e-08)|Lung(24;1.5e-05)|LUAD - Lung adenocarcinoma(15;8.5e-05)|STAD - Stomach adenocarcinoma(21;0.00372)|Kidney(9;0.143)			TATATTGTTCAAATGATCTTC	0.343			A		"sarcoma, glioma, colorectal, other"								C	69210669	A	C	69210669	2	2	794	1	0	0	0	0	0	0	0	1	9488	117	5	5		5	MDM2	12	69210669	Silent	SNP	A	TCGA-WY-A85C-01A-11D-A36O-08	62520372	69210669	64641226	18	58352											
MTUS2	23281	broad.mit.edu	37	chr13	29600725	29600725	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaggagaggacagaaactaaGcccatcattatgcccaagcc	15	5	10	11	0	1	2	1	0	0	2	1	5	1	3	3	2	4	0	3	2	4	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:29600725G>T	ENST00000431530.3	+	1	1978	c.1920G>T	c.(1918-1920)aaG>aaT	p.K640N		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	630						cytoplasm|microtubule	microtubule binding|protein homodimerization activity			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						CAGAAACTAAGCCCATCATTA	0.542													T	29600725	G	T	29600725	3	4	794	1	0	0	0	0	1	0	0	0	10042	962	34	4	1922	4	MTUS2	13	29600725	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		29600725	85569153	19	58353											
EFNB2	1948	broad.mit.edu	37	chr13	107165059	107165059	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	caaccatataaactttataaTattcatactggccaacagtt	16	13	3	9	0	1	0	1	0	0	0	1	0	1	0	2	1	4	1	2	1	9	9			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr13:107165059T>G	ENST00000245323.4	-	2	373	c.224A>C	c.(223-225)tAt>tCt	p.Y75S		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	75					cell differentiation|cell-cell signaling|interspecies interaction between organisms|nervous system development	integral to plasma membrane	ephrin receptor binding			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					AACTTTATAATATTCATACTG	0.393													G	107165059	T	G	107165059	3	3	794	1	0	0	0	0	1	0	0	0	4995	1406	49	5	793	5	EFNB2	13	107165059	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08	77564334	107165059	8004819	20	58354											
KIAA0586	9786	broad.mit.edu	37	chr14	58955472	58955472	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ccccctcacagatgccaggtTctgattcatcaacactggag	10	9	8	14	0	4	2	3	1	1	1	4	3	4	3	3	2	2	1	3	2	1	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr14:58955472T>G	ENST00000423743.3	+	25	3787	c.3529T>G	c.(3529-3531)Tct>Gct	p.S1177A	KIAA0586_ENST00000354386.6_Missense_Mutation_p.S1274A|KIAA0586_ENST00000556134.1_Missense_Mutation_p.S1206A|KIAA0586_ENST00000261244.5_Missense_Mutation_p.S1145A|KIAA0586_ENST00000538571.2_3'UTR	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN	KIAA0586	1145										endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GATGCCAGGTTCTGATTCATC	0.488													G	58955472	T	G	58955472	3	3	794	1	0	0	0	0	1	0	0	0	8244	1783	62	5	3523	5	KIAA0586	14	58955472	Missense_Mutation	SNP	T	TCGA-WY-A85C-01A-11D-A36O-08		58955472	48394068	21	58355											
TTBK2	146057	broad.mit.edu	37	chr15	43038404	43038404	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	1	1	0	1	1	0	agaatttgggccaggcgggaGaaaaggtctgagtcggagtt	11	8	17	5	2	1	3	0	1	1	2	2	5	1	4	1	5	0	1	1	5	3	2			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr15:43038404G>C	ENST00000267890.6	-	15	3432	c.3324C>G	c.(3322-3324)ttC>ttG	p.F1108L		NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1108					cell death		ATP binding|protein serine/threonine kinase activity			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		CCAGGCGGGAGAAAAGGTCTG	0.418													C	43038404	G	C	43038404	3	2	794	1	0	0	0	0	1	0	0	0	16779	933	33	4	414	4	TTBK2	15	43038404	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		43038404	59492988	22	58356											
CACNG3	10368	broad.mit.edu	37	chr16	24372736	24372736	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cgccggagaccccgggcagcGtgactccaaaaaaagttact	12	5	11	13	4	0	2	0	1	0	1	1	3	1	2	4	2	2	2	4	2	4	1	rs150191653		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:24372736G>A	ENST00000005284.3	+	4	1702	c.500G>A	c.(499-501)cGt>cAt	p.R167H		NM_006539.3	NP_006530.1	O60359	CCG3_HUMAN	calcium channel, voltage-dependent, gamma subunit 3	167					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)		CCCGGGCAGCGTGACTCCAAA	0.443													A	24372736	G	A	24372736	3	1	794	1	0	0	0	0	1	0	0	0	2584	1145	40	1	514	1	CACNG3	16	24372736	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		24372736	65982017	23	58357											
C16orf78	123970	broad.mit.edu	37	chr16	49433165	49433165	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	gatgctaaaaaggtgttcacCggaatacccagcatggccct	12	8	10	11	1	1	0	1	0	0	0	1	2	1	1	3	3	3	3	3	3	5	3			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr16:49433165C>T	ENST00000299191.3	+	5	891	c.774C>T	c.(772-774)acC>acT	p.T258T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	258										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						AGGTGTTCACCGGAATACCCA	0.522													T	49433165	C	T	49433165	2	4	794	1	0	0	0	0	0	0	0	1	1849	639	23	1		1	C16orf78	16	49433165	Silent	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	25060429	49433165	40921588	24	58358											
TP53	7157	broad.mit.edu	37	chr17	7578406	7578406	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agcgctcatggtgggggcagCgcctcacaacctccgtcatg	7	7	13	14	3	3	0	3	0	0	0	4	0	4	0	3	3	3	2	3	3	1	0	rs28934578		TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7578406C>T	ENST00000420246.2	-	5	656	c.524G>A	c.(523-525)cGc>cAc	p.R175H	TP53_ENST00000574684.1_5'UTR|TP53_ENST00000413465.2_Missense_Mutation_p.R175H|TP53_ENST00000455263.2_Missense_Mutation_p.R175H|TP53_ENST00000269305.4_Missense_Mutation_p.R175H|TP53_ENST00000445888.2_Missense_Mutation_p.R175H|TP53_ENST00000359597.4_Missense_Mutation_p.R175H	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	175	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		R -> C (in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; dbSNP:rs28934578).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (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.R175H(847)|p.R43H(36)|p.R82H(36)|p.R175L(19)|p.0?(8)|p.R175P(6)|p.R174fs*24(3)|p.R175_E180delRCPHHE(3)|p.V173fs*59(2)|p.R174fs*1(2)|p.V157_C176del20(1)|p.V173fs*69(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.R175fs*5(1)|p.R42fs*24(1)|p.R174_C176delRRC(1)|p.H168fs*69(1)|p.R174fs*70(1)|p.E171_H179delEVVRRCPHH(1)|p.R81fs*24(1)|p.R174_E180>K(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)		GTGGGGGCAGCGCCTCACAAC	0.652	R175H(AU565_BREAST)|R175H(CAL33_UPPER_AERODIGESTIVE_TRACT)|R175H(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|R175H(HCC1395_BREAST)|R175H(HUCCT1_BILIARY_TRACT)|R175H(KLE_ENDOMETRIUM)|R175H(KMS26_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R175H(LS123_LARGE_INTESTINE)|R175H(NCIH196_LUNG)|R175H(RKN_OVARY)|R175H(SKBR3_BREAST)|R175H(SKUT1_SOFT_TISSUE)|R175H(TYKNU_OVARY)	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)			T	7578406	C	T	7578406	3	4	794	1	0	0	0	0	1	0	0	0	16482	768	27	1	774	1	TP53	17	7578406	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08		7578406	73616804	25	58359											
TP53	7157	broad.mit.edu	37	chr17	7579716	7579716	+	Frame_Shift_Del	DEL	G	G	-																															ttaccagaacgttgttttcaGgaagtctgaaagacaagagc																										TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:7579716delG	ENST00000420246.2	-	3	212	c.80delC	c.(79-81)cctfs	p.P27fs	TP53_ENST00000359597.4_Frame_Shift_Del_p.P27fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000413465.2_Frame_Shift_Del_p.P27fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.P27fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	27	Interaction with HRMT1L2.|Transcription activation (acidic).				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.0?(8)|p.P27fs*17(4)|p.P27fs*50(1)|p.P13fs*18(1)|p.L26fs*11(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)		GTTGTTTTCAGGAAGTCTGAA	0.617		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)			-	7579716	G	-	7579716	7	5	794	1	0	1	0	1	0	0	0	0	16482	1000	35	0	1226	0	TP53	17	7579716	Frame_Shift_Del	DEL	G	TCGA-WY-A85C-01A-11D-A36O-08	1310	7579716	73615494	26	58360											
MYH13	8735	broad.mit.edu	37	chr17	10212891	10212891	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctgggtctctgccatctggCggttggagtggcccagctga	4	11	15	11	1	3	1	0	1	3	0	4	2	3	2	2	5	2	2	2	5	0	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr17:10212891C>T	ENST00000418404.3	-	33	5076	c.4913G>A	c.(4912-4914)cGc>cAc	p.R1638H	MYH13_ENST00000252172.4_Missense_Mutation_p.R1638H|RP11-401O9.4_ENST00000609088.1_RNA			Q9UKX3	MYH13_HUMAN	myosin, heavy chain 13, skeletal muscle	1638					muscle contraction	muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|microfilament motor activity			breast(3)|cervix(2)|endometrium(11)|kidney(7)|large_intestine(21)|lung(48)|ovary(7)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(2)	108						TGCCATCTGGCGGTTGGAGTG	0.622													T	10212891	C	T	10212891	3	4	794	1	0	0	0	0	1	0	0	0	10108	768	27	1	935	1	MYH13	17	10212891	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	2633175	10212891	70982319	27	58361											
ANKRD24	170961	broad.mit.edu	37	chr19	4222733	4222733	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggagcagccggccgccctcGccacccctgaggtggaggct	6	4	15	16	3	0	1	0	1	0	0	1	3	0	3	6	5	2	2	6	5	0	0			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:4222733G>A	ENST00000600132.1	+	20	3514	c.3238G>A	c.(3238-3240)Gcc>Acc	p.A1080T	ANKRD24_ENST00000318934.4_Missense_Mutation_p.A1080T|ANKRD24_ENST00000262970.5_Missense_Mutation_p.A1170T	NM_133475.1	NP_597732.1	Q8TF21	ANR24_HUMAN	ankyrin repeat domain 24	1080										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)		GGCCGCCCTCGCCACCCCTGA	0.592													A	4222733	G	A	4222733	3	1	794	1	0	0	0	0	1	0	0	0	653	1087	38	1	3312	1	ANKRD24	19	4222733	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		4222733	54906250	28	58362											
MUC16	94025	broad.mit.edu	37	chr19	9061576	9061576	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	agacgtggctaatatttcagCtgaggtgctgctcaaatttg	10	13	11	7	1	2	2	2	1	0	1	2	2	2	2	0	2	3	4	0	2	3	4			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:9061576C>A	ENST00000397910.4	-	3	26073	c.25870G>T	c.(25870-25872)Gct>Tct	p.A8624S		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8626	Ser-rich.|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						AATATTTCAGCTGAGGTGCTG	0.458													A	9061576	C	A	9061576	3	1	794	1	0	0	0	0	1	0	0	0	10049	797	28	4	17981	4	MUC16	19	9061576	Missense_Mutation	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	4838843	9061576	50067407	29	58363											
CD79A	973	broad.mit.edu	37	chr19	42384999	42384999	+	Frame_Shift_Del	DEL	G	G	-																															ggcctccagggcacctaccaGgatgtgggcagcctcaacat																										TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr19:42384999delG	ENST00000221972.3	+	5	818	c.633delG	c.(631-633)cagfs	p.Q211fs	CD79A_ENST00000444740.2_Frame_Shift_Del_p.Q173fs	NM_001783.3|NM_021601.3	NP_001774.1|NP_067612.1	P11912	CD79A_HUMAN	CD79a molecule, immunoglobulin-associated alpha	211					B cell differentiation|B cell proliferation|B cell receptor signaling pathway	B cell receptor complex|external side of plasma membrane|integral to membrane|membrane raft|multivesicular body	transmembrane receptor activity			large_intestine(3)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11						GCACCTACCAGGATGTGGGCA	0.627			"O, S"		DLBCL								-	42384999	G	-	42384999	7	5	794	1	0	1	0	1	0	0	0	0	3066	991	35	0	651	0	CD79A	19	42384999	Frame_Shift_Del	DEL	G	TCGA-WY-A85C-01A-11D-A36O-08	33323423	42384999	16743984	30	58364											
BAGE2	85319	broad.mit.edu	37	chr21	11038985	11038985	+	RNA	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcagatgataactttataGatttgcctccttggtatgaa	11	16	7	7	0	1	4	1	2	1	2	3	4	2	4	2	1	2	1	2	1	5	7			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr21:11038985G>T	ENST00000470054.1	-	0	1218									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TAACTTTATAGATTTGCCTCC	0.403													T	11038985	G	T	11038985	1	4	794	0	1	0	0	0	0	0	0	0	1297	957	33	4		4	BAGE2	21	11038985	RNA	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		11038985	37090910	31	58365											
CBS	875	broad.mit.edu	37	chr21	44486353	44486353	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctctgggcctggcacccacCggtgttcccggatgtcggct	3	9	13	16	3	1	0	0	0	1	0	3	1	2	1	5	5	0	3	5	5	0	1			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chr21:44486353C>T	ENST00000398165.3	-	5	710	c.451G>A	c.(451-453)Ggg>Agg	p.G151R	CBS_ENST00000398158.1_Splice_Site_p.G151R|CBS_ENST00000352178.5_Splice_Site_p.G151R|CBS_ENST00000470912.1_5'UTR|CBS_ENST00000544202.1_Splice_Site_p.G63R|CBS_ENST00000398168.1_Splice_Site_p.G151R|CBS_ENST00000359624.3_Splice_Site_p.G151R	NM_000071.2	NP_000062.1	P35520	CBS_HUMAN	cystathionine-beta-synthase	151			G -> R (in CBSD).|Missing (in CBSD).		cysteine biosynthetic process from serine|cysteine biosynthetic process via cystathionine|homocysteine catabolic process|hydrogen sulfide biosynthetic process|L-cysteine catabolic process|L-serine catabolic process	cytosol|nucleolus	cystathionine beta-synthase activity|heme binding|protein homodimerization activity|pyridoxal phosphate binding|ubiquitin protein ligase binding			endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(8)	17					L-Cysteine(DB00151)|L-Serine(DB00133)|Pyridoxal Phosphate(DB00114)|Pyridoxine(DB00165)|S-Adenosylmethionine(DB00118)	TGGCACCCACCGGTGTTCCCG	0.687													T	44486353	C	T	44486353	5	4	794	1	0	0	0	0	0	0	1	0	2737	666	23	1	1256	1	CBS	21	44486353	Splice_Site	SNP	C	TCGA-WY-A85C-01A-11D-A36O-08	33447368	44486353	3643542	32	58366											
TBX22	50945	broad.mit.edu	37	chrX	79286146	79286146	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagaggcatacctgcccaatGtcaacctgcctctatgctac	10	9	7	15	0	2	1	1	0	1	1	2	1	2	1	4	1	6	2	4	1	5	3			TCGA-WY-A85C-01A-11D-A36O-08	TCGA-WY-A85C-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	b0a54624-8f3c-4b1b-86d5-61ba2b23301e	6b10639c-71dc-4e9e-9b88-65335e63c029	g.chrX:79286146G>A	ENST00000442340.1	+	9	1229	c.739G>A	c.(739-741)Gtc>Atc	p.V247I	TBX22_ENST00000373294.5_Missense_Mutation_p.V367I|TBX22_ENST00000373291.1_Missense_Mutation_p.V247I|TBX22_ENST00000373296.3_Missense_Mutation_p.V367I	NM_001109878.1|NM_001109879.1	NP_001103348.1|NP_001103349.1	Q9Y458	TBX22_HUMAN	T-box 22	367					multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						CCTGCCCAATGTCAACCTGCC	0.448													A	79286146	G	A	79286146	3	1	794	1	0	0	0	0	1	0	0	0	15758	1377	48	2	1129	2	TBX22	23	79286146	Missense_Mutation	SNP	G	TCGA-WY-A85C-01A-11D-A36O-08		79286146	75984414	33	58367											
C1orf172	126695	broad.mit.edu	37	chr1	27277235	27277235	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtcgtctcctgggagatcTgcactgtcagctctagggag	7	10	13	11	1	4	1	1	0	3	1	6	3	4	2	1	2	2	2	1	2	1	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:27277235T>C	ENST00000320567.5	-	3	1140	c.1052A>G	c.(1051-1053)cAg>cGg	p.Q351R		NM_152365.2	NP_689578.2	Q8NAX2	CA172_HUMAN	chromosome 1 open reading frame 172	351										NS(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17		all_cancers(24;1.29e-21)|all_epithelial(13;2.35e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Breast(348;0.00131)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Epithelial(14;3.37e-51)|OV - Ovarian serous cystadenocarcinoma(117;2.22e-29)|Colorectal(126;5.31e-09)|COAD - Colon adenocarcinoma(152;9.31e-07)|BRCA - Breast invasive adenocarcinoma(304;0.000272)|STAD - Stomach adenocarcinoma(196;0.000588)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|READ - Rectum adenocarcinoma(331;0.0419)		CTGGGAGATCTGCACTGTCAG	0.572													C	27277235	T	C	27277235	3	2	795	1	0	0	0	0	1	0	0	0	2033	1580	55	3	152	3	C1orf172	1	27277235	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		27277235	221973386	1	58368											
RIMKLA	284716	broad.mit.edu	37	chr1	42870214	42870214	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	acttttcaaaaatgattgatGaagctgagcccctgggctac	12	11	9	9	0	1	4	1	4	0	0	1	4	1	4	2	1	3	2	2	1	4	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:42870214G>A	ENST00000431473.3	+	3	556	c.427G>A	c.(427-429)Gaa>Aaa	p.E143K		NM_173642.3	NP_775913.2	Q8IXN7	RIMKA_HUMAN	ribosomal modification protein rimK-like family member A	143	ATP-grasp.				protein modification process	cytoplasm	acid-amino acid ligase activity|ATP binding|metal ion binding			NS(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						AATGATTGATGAAGCTGAGCC	0.567													A	42870214	G	A	42870214	3	1	795	1	0	0	0	0	1	0	0	0	13456	1291	45	2	437	2	RIMKLA	1	42870214	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	15592979	42870214	206380407	2	58369											
LRIG2	9860	broad.mit.edu	37	chr1	113657236	113657236	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cttctcatcattgtagatgcCgggctagaagatgctgggaa	10	11	12	8	1	2	3	2	0	1	3	3	4	2	4	1	2	2	3	1	2	4	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:113657236C>T	ENST00000361127.5	+	15	2466	c.2268C>T	c.(2266-2268)gcC>gcT	p.A756A	LRIG2_ENST00000492207.1_3'UTR	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2		Ig-like C2-type 3.					cytoplasm|integral to membrane|plasma membrane				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TTGTAGATGCCGGGCTAGAAG	0.473													T	113657236	C	T	113657236	2	4	795	1	0	0	0	0	0	0	0	1	9015	639	23	1		1	LRIG2	1	113657236	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	70787022	113657236	135593385	3	58370											
SPAG17	200162	broad.mit.edu	37	chr1	118640423	118640423	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gttccaagtacttccagaaaGttttaagctcttttatggca	11	15	7	8	0	1	1	0	0	1	1	3	1	3	1	2	1	2	5	2	1	5	7			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:118640423G>C	ENST00000336338.5	-	7	946	c.881C>G	c.(880-882)aCt>aGt	p.T294S		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	294						cilium|flagellar axoneme|microtubule				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		CTTCCAGAAAGTTTTAAGCTC	0.328													C	118640423	G	C	118640423	3	2	795	1	0	0	0	0	1	0	0	0	15075	1029	36	4	5958	4	SPAG17	1	118640423	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4983187	118640423	130610198	4	58371											
OR10R2	343406	broad.mit.edu	37	chr1	158450564	158450564	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	ctggtgacggtgacatacacGattgtcactccattactaaa	12	11	8	10	2	1	2	1	2	0	0	2	3	2	2	1	2	2	0	1	2	4	4	rs146808200		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr1:158450564G>A	ENST00000368152.1	+	1	897	c.897G>A	c.(895-897)acG>acA	p.T299T	RP11-144L1.4_ENST00000426251.1_RNA|RP11-144L1.4_ENST00000419738.1_RNA	NM_001004472.1	NP_001004472.1	Q8NGX6	O10R2_HUMAN	olfactory receptor, family 10, subfamily R, member 2	299					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(26)|pancreas(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	41	all_hematologic(112;0.0378)					TGACATACACGATTGTCACTC	0.433													A	158450564	G	A	158450564	2	1	795	1	0	0	0	0	0	0	0	1	10993	1045	37	1		1	OR10R2	1	158450564	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	39810141	158450564	90800057	5	58372											
BCL11A	53335	broad.mit.edu	37	chr2	60687797	60687797	+	Silent	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agattgctacagttcttgaaGactttcccacagtactcaca	12	12	6	11	0	2	3	1	1	1	2	3	3	3	3	1	0	3	3	1	0	3	6			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:60687797G>T	ENST00000335712.6	-	4	2477	c.2250C>A	c.(2248-2250)gtC>gtA	p.V750V	BCL11A_ENST00000477659.1_5'UTR|BCL11A_ENST00000538214.1_Silent_p.V716V|BCL11A_ENST00000359629.5_Intron|BCL11A_ENST00000537768.1_Intron|BCL11A_ENST00000358510.4_Silent_p.V716V|BCL11A_ENST00000356842.4_Intron	NM_022893.3	NP_075044.2	Q9H165	BC11A_HUMAN	B-cell CLL/lymphoma 11A (zinc finger protein)	750					negative regulation of axon extension|negative regulation of collateral sprouting|negative regulation of dendrite development|positive regulation of collateral sprouting|positive regulation of neuron projection development|positive regulation of transcription from RNA polymerase II promoter|protein sumoylation|regulation of dendrite development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	nucleic acid binding|protein heterodimerization activity|protein homodimerization activity|zinc ion binding			NS(1)|breast(6)|central_nervous_system(6)|endometrium(4)|kidney(1)|large_intestine(8)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	59			LUSC - Lung squamous cell carcinoma(5;9.29e-08)|Lung(5;1.34e-06)|Epithelial(17;0.0562)|all cancers(80;0.199)			AGTTCTTGAAGACTTTCCCAC	0.562			T	IGH@	B-CLL								T	60687797	G	T	60687797	2	4	795	1	0	0	0	0	0	0	0	1	1368	929	33	4		4	BCL11A	2	60687797	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		60687797	182511576	6	58373											
B3GNT2	10678	broad.mit.edu	37	chr2	62449961	62449961	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gatatgctgaaatttgagagTgagaagcaccaagacattct	15	10	10	6	0	1	4	0	3	1	3	1	7	1	4	1	0	2	2	1	0	4	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:62449961T>A	ENST00000301998.4	+	2	858	c.606T>A	c.(604-606)agT>agA	p.S202R	B3GNT2_ENST00000405767.1_Missense_Mutation_p.S202R	NM_006577.5	NP_006568.2	Q9NY97	B3GN2_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 2	202						Golgi membrane|integral to membrane	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|pancreas(1)	18	Lung NSC(7;0.031)|all_lung(7;0.0634)		LUSC - Lung squamous cell carcinoma(7;3.55e-06)|Epithelial(17;0.0963)			AATTTGAGAGTGAGAAGCACC	0.507													A	62449961	T	A	62449961	3	1	795	1	0	0	0	0	1	0	0	0	1262	1693	59	5	608	5	B3GNT2	2	62449961	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	1762164	62449961	180749412	7	58374											
ANAPC1	64682	broad.mit.edu	37	chr2	112596041	112596041	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	agatccagtctcggaaggccTtgcttttttgggcgcaatga	8	12	12	9	2	1	2	0	1	1	1	3	3	2	3	2	3	1	2	2	3	2	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr2:112596041T>C	ENST00000341068.3	-	18	2861	c.2089A>G	c.(2089-2091)Agg>Ggg	p.R697G		NM_022662.3	NP_073153.1	Q9H1A4	APC1_HUMAN	anaphase promoting complex subunit 1	697					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(7)|lung(16)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	49						TCGGAAGGCCTTGCTTTTTTG	0.343													C	112596041	T	C	112596041	3	2	795	1	0	0	0	0	1	0	0	0	598	1608	56	3	3869	3	ANAPC1	2	112596041	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	50146080	112596041	130603332	8	58375											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	795	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	96517071	209113112	34086261	9	58376											
LGI2	55203	broad.mit.edu	37	chr4	25005383	25005383	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tgttccacctcatgacccggGagtccccgatgaagcgggta	8	8	12	13	3	1	2	1	2	0	0	3	4	3	3	5	2	1	2	5	2	2	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:25005383G>C	ENST00000382114.4	-	8	1513	c.1328C>G	c.(1327-1329)tCc>tGc	p.S443C		NM_018176.3	NP_060646.2	Q8N0V4	LGI2_HUMAN	leucine-rich repeat LGI family, member 2	443						extracellular region				breast(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(15)|prostate(1)|skin(3)|stomach(2)	33		Breast(46;0.173)				CATGACCCGGGAGTCCCCGAT	0.532													C	25005383	G	C	25005383	3	2	795	1	0	0	0	0	1	0	0	0	8812	1174	41	4	313	4	LGI2	4	25005383	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		25005383	166148893	10	58377											
EIF4E	1977	broad.mit.edu	37	chr4	99812468	99812468	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ttgcttttatcatttttaaaAaaccagagtgcccatctaaa	14	15	4	8	0	2	1	1	0	1	1	2	1	2	1	2	0	3	1	2	0	6	7			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:99812468A>C	ENST00000450253.2	-	3	1665	c.141T>G	c.(139-141)ttT>ttG	p.F47L	EIF4E_ENST00000505992.1_Missense_Mutation_p.F47L|EIF4E_ENST00000504432.1_Missense_Mutation_p.F75L|EIF4E_ENST00000280892.6_Missense_Mutation_p.F67L	NM_001968.3	NP_001959.1	P06730	IF4E_HUMAN	eukaryotic translation initiation factor 4E	47					G1/S transition of mitotic cell cycle|insulin receptor signaling pathway|interspecies interaction between organisms|mRNA export from nucleus|nuclear-transcribed mRNA poly(A) tail shortening|positive regulation of mitotic cell cycle|regulation of translation	cytoplasmic mRNA processing body|cytosol|eukaryotic translation initiation factor 4F complex|mRNA cap binding complex|RNA-induced silencing complex	protein binding|RNA cap binding|translation initiation factor activity			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(1)	13				OV - Ovarian serous cystadenocarcinoma(123;2.7e-07)|LUSC - Lung squamous cell carcinoma(721;0.00227)		CATTTTTAAAAAACCAgagtg	0.343													C	99812468	A	C	99812468	3	2	795	1	0	0	0	0	1	0	0	0	5069	11	1	5	629	5	EIF4E	4	99812468	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08	74807085	99812468	91341808	11	58378											
FSTL5	56884	broad.mit.edu	37	chr4	162402315	162402315	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctcagctttgggacagaCttcatcctgtaatttaggaa	10	13	8	10	0	2	1	2	0	0	1	4	3	4	3	2	2	1	2	2	2	3	5			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr4:162402315C>T	ENST00000306100.5	-	13	1901	c.1465G>A	c.(1465-1467)Gtc>Atc	p.V489I	FSTL5_ENST00000427802.2_Missense_Mutation_p.V479I|FSTL5_ENST00000536695.1_Missense_Mutation_p.V488I|FSTL5_ENST00000379164.4_Missense_Mutation_p.V488I	NM_001128427.2|NM_020116.4	NP_001121899.1|NP_064501.2	Q8N475	FSTL5_HUMAN	follistatin-like 5	489						extracellular region	calcium ion binding			central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(18)|lung(43)|ovary(4)|pancreas(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	91	all_hematologic(180;0.24)			COAD - Colon adenocarcinoma(41;0.179)		TTGGGACAGACTTCATCCTGT	0.358													T	162402315	C	T	162402315	3	4	795	1	0	0	0	0	1	0	0	0	6132	565	20	2	1094	2	FSTL5	4	162402315	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	62589847	162402315	28751961	12	58379											
TTC37	9652	broad.mit.edu	37	chr5	94805499	94805499	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cataccttgcccccattttgCgtttgaattgtaacaaagct	10	14	6	11	1	0	1	0	1	0	0	0	1	0	1	3	0	5	3	3	0	4	7			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr5:94805499C>T	ENST00000358746.2	-	41	4779	c.4481G>A	c.(4480-4482)cGc>cAc	p.R1494H		NM_014639.3	NP_055454.1	Q6PGP7	TTC37_HUMAN	tetratricopeptide repeat domain 37	1494							binding			breast(2)|endometrium(6)|kidney(3)|large_intestine(13)|liver(1)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(1)	47						CCCCATTTTGCGTTTGAATTG	0.363													T	94805499	C	T	94805499	3	4	795	1	0	0	0	0	1	0	0	0	16807	768	27	1	225	1	TTC37	5	94805499	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		94805499	86109761	13	58380											
DLK2	65989	broad.mit.edu	37	chr6	43418746	43418746	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cgaagtcgtggacacggtccCgacagcgggcccctctctgg	6	6	14	15	5	1	0	0	0	1	0	4	3	2	1	3	4	1	0	3	4	1	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:43418746C>T	ENST00000357338.3	-	6	1383	c.683G>A	c.(682-684)cGg>cAg	p.R228Q	DLK2_ENST00000414245.1_Missense_Mutation_p.R222Q|DLK2_ENST00000372488.3_Missense_Mutation_p.R228Q|DLK2_ENST00000372485.1_Missense_Mutation_p.R222Q	NM_206539.1	NP_996262.1	Q6UY11	DLK2_HUMAN	delta-like 2 homolog (Drosophila)	228	EGF-like 6; calcium-binding (Potential).					integral to membrane	calcium ion binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(1)|upper_aerodigestive_tract(1)	7	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)			GACACGGTCCCGACAGCGGGC	0.627													T	43418746	C	T	43418746	3	4	795	1	0	0	0	0	1	0	0	0	4604	652	23	1	472	1	DLK2	6	43418746	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		43418746	127696321	14	58381											
GRIK2	2898	broad.mit.edu	37	chr6	101847197	101847197	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aagtaatccagtcttcaggcGcaccgttaaactcctgctct	10	11	7	13	2	3	0	1	0	2	0	5	0	5	0	3	1	2	4	3	1	4	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:101847197G>A	ENST00000369138.1	+	1	534	c.44G>A	c.(43-45)cGc>cAc	p.R15H	GRIK2_ENST00000358361.3_Missense_Mutation_p.R15H|GRIK2_ENST00000421544.1_Missense_Mutation_p.R15H|GRIK2_ENST00000318991.6_Missense_Mutation_p.R15H|GRIK2_ENST00000413795.1_Missense_Mutation_p.R15H|GRIK2_ENST00000369137.3_Missense_Mutation_p.R15H	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	15					glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	L-Glutamic Acid(DB00142)	GTCTTCAGGCGCACCGTTAAA	0.473													A	101847197	G	A	101847197	3	1	795	1	0	0	0	0	1	0	0	0	6829	1087	38	1	46	1	GRIK2	6	101847197	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	58428451	101847197	69267870	15	58382											
TRAF3IP2	10758	broad.mit.edu	37	chr6	111912849	111912849	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tggccagtgtcaggagaagcCgctgaaagctgagataccag	12	6	14	9	1	1	3	1	2	0	2	1	5	1	3	3	2	3	2	3	2	3	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:111912849C>T	ENST00000368761.5	-	2	919	c.441G>A	c.(439-441)gcG>gcA	p.A147A	TRAF3IP2_ENST00000340026.6_Silent_p.A156A|TRAF3IP2-AS1_ENST00000532353.1_RNA|TRAF3IP2_ENST00000392556.4_5'UTR|TRAF3IP2_ENST00000359831.4_Silent_p.A147A	NM_001164281.2|NM_147686.3	NP_001157753.1|NP_679211.2	O43734	CIKS_HUMAN	TRAF3 interacting protein 2	156					intracellular signal transduction|positive regulation of I-kappaB kinase/NF-kappaB cascade	intracellular				central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|urinary_tract(1)	18		all_cancers(87;7.87e-06)|Acute lymphoblastic leukemia(125;3.61e-09)|all_hematologic(75;2.63e-07)|all_epithelial(87;0.0024)|Colorectal(196;0.021)		OV - Ovarian serous cystadenocarcinoma(136;0.033)|all cancers(137;0.0412)|Epithelial(106;0.0732)		CAGGAGAAGCCGCTGAAAGCT	0.522													T	111912849	C	T	111912849	2	4	795	1	0	0	0	0	0	0	0	1	16542	639	23	1		1	TRAF3IP2	6	111912849	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	10065652	111912849	59202218	16	58383											
GOPC	57120	broad.mit.edu	37	chr6	117894644	117894644	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	acatacatggcctggtggtgCttgcattggtcgtttcaagt	7	14	12	8	1	1	0	1	0	0	0	2	0	1	0	1	4	3	3	1	4	2	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:117894644C>T	ENST00000535237.1	-	5	1031	c.802G>A	c.(802-804)Gca>Aca	p.A268T	GOPC_ENST00000052569.6_Missense_Mutation_p.A260T|GOPC_ENST00000467125.1_5'UTR|GOPC_ENST00000368498.2_Missense_Mutation_p.A268T					golgi-associated PDZ and coiled-coil motif containing										GOPC/ROS1(14)	endometrium(1)|large_intestine(3)|lung(4)|ovary(1)	9		all_cancers(87;0.00844)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0363)|OV - Ovarian serous cystadenocarcinoma(136;0.0821)|all cancers(137;0.0976)		CCTGGTGGTGCTTGCATTGGT	0.433			O	ROS1	glioblastoma								T	117894644	C	T	117894644	3	4	795	1	0	0	0	0	1	0	0	0	6626	797	28	2	606	2	GOPC	6	117894644	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	5981795	117894644	53220423	17	58384											
LATS1	9113	broad.mit.edu	37	chr6	150005421	150005421	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttgtttgagagtttggttcCcatgaagggggaggtggagt	7	14	17	3	0	0	2	0	2	0	1	1	5	1	4	1	5	0	3	1	5	1	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr6:150005421C>T	ENST00000543571.1	-	4	1351	c.804G>A	c.(802-804)tgG>tgA	p.W268*	LATS1_ENST00000542747.1_5'UTR|LATS1_ENST00000253339.5_Nonsense_Mutation_p.W268*|LATS1_ENST00000392273.3_Nonsense_Mutation_p.W268*	NM_004690.3	NP_004681.1	O95835	LATS1_HUMAN	large tumor suppressor kinase 1	268					cell division|cytoplasmic sequestering of protein|G2/M transition of mitotic cell cycle|hippo signaling cascade|hormone-mediated signaling pathway|mitosis|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|positive regulation of peptidyl-serine phosphorylation|regulation of actin filament polymerization|sister chromatid segregation	microtubule organizing center|spindle pole	ATP binding|magnesium ion binding|protein kinase binding|protein serine/threonine kinase activity			central_nervous_system(1)|lung(5)	6		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;6.93e-13)|GBM - Glioblastoma multiforme(68;0.116)		AGTTTGGTTCCCATGAAGGGG	0.547													T	150005421	C	T	150005421	4	4	795	1	0	0	0	0	0	1	0	0	8705	624	22	2	2608	2	LATS1	6	150005421	Nonsense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	32110777	150005421	21109646	18	58385											
ABCB5	340273	broad.mit.edu	37	chr7	20766690	20766690	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ctgaagctttggagaatataCgtactatagtgtcattaaca	14	13	8	6	1	1	2	1	1	0	1	1	3	1	2	0	1	4	2	0	1	8	7			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr7:20766690C>T	ENST00000404938.2	+	22	3305	c.2653C>T	c.(2653-2655)Cgt>Tgt	p.R885C	ABCB5_ENST00000258738.6_Missense_Mutation_p.R440C	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	440					regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						GGAGAATATACGTACTATAGT	0.323													T	20766690	C	T	20766690	3	4	795	1	0	0	0	0	1	0	0	0	44	536	19	1	2776	1	ABCB5	7	20766690	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		20766690	138371973	19	58386											
VPS13A	23230	broad.mit.edu	37	chr9	79959998	79959998	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	atttttagattatcatgatgGagcagctacattcctcttaa	12	16	6	7	0	2	2	1	1	1	1	3	3	3	3	1	1	3	2	1	1	4	7			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr9:79959998G>C	ENST00000360280.3	+	52	7489	c.7229G>C	c.(7228-7230)gGa>gCa	p.G2410A	VPS13A_ENST00000376634.4_Missense_Mutation_p.G2410A|VPS13A_ENST00000357409.5_Missense_Mutation_p.G2410A|VPS13A_ENST00000376636.3_Missense_Mutation_p.G2371A	NM_033305.2	NP_150648.2	Q96RL7	VP13A_HUMAN	vacuolar protein sorting 13 homolog A (S. cerevisiae)	2410					Golgi to endosome transport|protein transport	intracellular	protein binding			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(28)|liver(1)|lung(42)|ovary(3)|pancreas(3)|prostate(3)|skin(9)|upper_aerodigestive_tract(1)|urinary_tract(1)	104						TATCATGATGGAGCAGCTACA	0.318													C	79959998	G	C	79959998	3	2	795	1	0	0	0	0	1	0	0	0	17291	1174	41	4	7435	4	VPS13A	9	79959998	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		79959998	61253433	20	58387											
GATA3	2625	broad.mit.edu	37	chr10	8115720	8115720	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	agattaacagacccctgactAtgaagaaggaaggcatccag	16	6	10	9	0	0	5	0	2	0	3	1	6	1	6	3	2	1	1	3	2	5	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr10:8115720A>G	ENST00000379328.3	+	6	1637	c.1069A>G	c.(1069-1071)Atg>Gtg	p.M357V	GATA3_ENST00000346208.3_Missense_Mutation_p.M356V|GATA3_ENST00000461472.1_3'UTR	NM_001002295.1|NM_002051.2	NP_001002295.1|NP_002042.1	P23771	GATA3_HUMAN	GATA binding protein 3	356					aortic valve morphogenesis|blood coagulation|canonical Wnt receptor signaling pathway involved in metanephric kidney development|cardiac right ventricle morphogenesis|cell fate determination|cellular response to interferon-alpha|cellular response to interleukin-4|cellular response to tumor necrosis factor|defense response|ear development|lymphocyte migration|male gonad development|mesenchymal to epithelial transition|mesonephros development|negative regulation of cell cycle|negative regulation of cell motility|negative regulation of cell proliferation involved in mesonephros development|negative regulation of endothelial cell apoptosis|negative regulation of fat cell differentiation|negative regulation of fibroblast growth factor receptor signaling pathway involved in ureteric bud formation|negative regulation of glial cell-derived neurotrophic factor receptor signaling pathway involved in ureteric bud formation|negative regulation of inflammatory response|negative regulation of mammary gland epithelial cell proliferation|nephric duct formation|norepinephrine biosynthetic process|pharyngeal system development|phosphatidylinositol 3-kinase cascade|positive regulation of endothelial cell migration|positive regulation of interleukin-13 secretion|positive regulation of interleukin-4 production|positive regulation of interleukin-5 secretion|positive regulation of protein kinase B signaling cascade|positive regulation of T cell differentiation|positive regulation of thyroid hormone generation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription regulatory region DNA binding|positive regulation of ureteric bud formation|regulation of cellular response to X-ray|regulation of cytokine biosynthetic process|regulation of nephron tubule epithelial cell differentiation|response to estrogen stimulus|response to virus|sympathetic nervous system development|T cell receptor signaling pathway|TOR signaling cascade|ureteric bud formation|uterus development|ventricular septum development	nuclear chromatin|nucleolus|nucleoplasm	core promoter proximal region sequence-specific DNA binding|core promoter sequence-specific DNA binding|E-box binding|HMG box domain binding|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription|transcription coactivator activity|transcription factor binding|zinc ion binding	p.M357fs*14(1)		NS(1)|breast(44)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(24)|ovary(3)|skin(2)	87						ACCCCTGACTATGAAGAAGGA	0.403			"F, N, S"		breast		"HDR syndrome (HYPOPARATHYROIDISM, SENSORINEURAL DEAFNESS, AND RENAL DISEASE)"						G	8115720	A	G	8115720	3	3	795	1	0	0	0	0	1	0	0	0	6309	449	16	3	1087	3	GATA3	10	8115720	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		8115720	127419027	21	58388											
OR4P4	81300	broad.mit.edu	37	chr11	55405900	55405900	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cccaaaataagaacattgaaGtcctctgctttgtattattt	13	15	5	8	0	1	2	0	1	1	1	2	2	2	2	2	0	2	2	2	0	7	6			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:55405900G>A	ENST00000314612.2	+	1	67	c.67G>A	c.(67-69)Gtc>Atc	p.V23I		NM_001004124.1	NP_001004124.1	Q8NGL7	OR4P4_HUMAN	olfactory receptor, family 4, subfamily P, member 4	23					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			autonomic_ganglia(1)|central_nervous_system(1)|kidney(4)|large_intestine(4)|lung(28)|ovary(1)|upper_aerodigestive_tract(1)	40						GAACATTGAAGTCCTCTGCTT	0.363													A	55405900	G	A	55405900	3	1	795	1	0	0	0	0	1	0	0	0	11156	1029	36	2	69	2	OR4P4	11	55405900	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		55405900	79600616	22	58389											
OR8K3	219473	broad.mit.edu	37	chr11	56086694	56086694	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	1	1	0	0	0	0	tatgccctacgaaggacatgGaataacttatgtaatatttt	14	14	7	6	1	0	0	0	0	0	0	0	3	0	2	1	2	3	1	1	2	8	8			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:56086694G>C	ENST00000312711.1	+	1	912	c.912G>C	c.(910-912)tgG>tgC	p.W304C		NM_001005202.1	NP_001005202.1	Q8NH51	OR8K3_HUMAN	olfactory receptor, family 8, subfamily K, member 3	304					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			central_nervous_system(2)|endometrium(3)|large_intestine(6)|liver(2)|lung(15)|ovary(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	40	Esophageal squamous(21;0.00448)					GAAGGACATGGAATAACTTAT	0.328													C	56086694	G	C	56086694	3	2	795	1	0	0	0	0	1	0	0	0	11320	1183	41	4	914	4	OR8K3	11	56086694	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	680794	56086694	78919822	23	58390											
GLYAT	10249	broad.mit.edu	37	chr11	58480360	58480360	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tcaaggtcatctgtcatatcCtgttatcattaggaaaaagg	13	13	8	7	0	5	0	4	0	1	0	6	1	6	1	1	3	0	1	1	3	6	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr11:58480360C>A	ENST00000344743.3	-	4	331		c.e4-1		GLYAT_ENST00000529732.1_Splice_Site|GLYAT_ENST00000278400.3_Splice_Site	NM_201648.2	NP_964011.2	Q6IB77	GLYAT_HUMAN	glycine-N-acyltransferase						acyl-CoA metabolic process|response to toxin|xenobiotic metabolic process	mitochondrial matrix	glycine N-acyltransferase activity|glycine N-benzoyltransferase activity			NS(1)|autonomic_ganglia(1)|kidney(1)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	16		Breast(21;0.0044)|all_epithelial(135;0.0157)			Glycine(DB00145)	CTGTCATATCCTGTTATCATT	0.303													A	58480360	C	A	58480360	5	1	795	1	0	0	0	0	0	0	1	0	6535	695	24	4	717	4	GLYAT	11	58480360	Splice_Site	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	2393666	58480360	76526156	24	58391											
TMPO	7112	broad.mit.edu	37	chr12	98927085	98927085	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggtcccatatttcagatcaAtcgcctctctccagtaaaag	12	11	6	12	1	3	1	2	0	1	1	7	1	5	1	3	1	0	1	3	1	4	3	rs147812883	byFrequency	TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:98927085A>G	ENST00000266732.4	+	4	1288	c.1050A>G	c.(1048-1050)caA>caG	p.Q350Q	TMPO_ENST00000343315.5_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000556029.1_Intron	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN	thymopoietin	256	Binds lamins B.|NAKAP95-binding C.|Nucleoplasmic (Potential).					integral to membrane|nuclear inner membrane	DNA binding|lamin binding			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						TTTCAGATCAATCGCCTCTCT	0.418													G	98927085	A	G	98927085	2	3	795	1	0	0	0	0	0	0	0	1	16337	98	4	3		3	TMPO	12	98927085	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		98927085	34924810	25	58392											
DDX54	79039	broad.mit.edu	37	chr12	113599733	113599733	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gagctgctgatgtagcggccGctctctgtcttaatcttctt	5	15	10	11	2	4	1	0	1	4	0	5	2	4	1	1	1	3	4	1	1	2	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113599733G>A	ENST00000314045.7	-	18	2292	c.2265C>T	c.(2263-2265)agC>agT	p.S755S	DDX54_ENST00000306014.5_Silent_p.S755S	NM_001111322.1	NP_001104792.1	Q8TDD1	DDX54_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 54	755					estrogen receptor signaling pathway|regulation of transcription, DNA-dependent|RNA processing|transcription, DNA-dependent	nucleolus	ATP binding|ATP-dependent RNA helicase activity|estrogen receptor binding|RNA binding|transcription corepressor activity	p.S755R(1)		breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TGTAGCGGCCGCTCTCTGTCT	0.592													A	113599733	G	A	113599733	2	1	795	1	0	0	0	0	0	0	0	1	4406	1078	38	1		1	DDX54	12	113599733	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	14672648	113599733	20252162	26	58393											
LHX5	64211	broad.mit.edu	37	chr12	113901233	113901233	+	Frame_Shift_Del	DEL	C	C	-																															cgagcggcggttccagcgctCccagcggcgtcgagccgggg																										TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:113901233delC	ENST00000261731.3	-	5	1544	c.971delG	c.(970-972)ggafs	p.G324fs		NM_022363.2	NP_071758.1	Q9H2C1	LHX5_HUMAN	LIM homeobox 5	324						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			NS(1)|endometrium(2)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	10						TTCCAGCGCTCCCAGCGGCGT	0.731													-	113901233	C	-	113901233	7	5	795	1	0	1	0	1	0	0	0	0	8834	855	30	0	241	0	LHX5	12	113901233	Frame_Shift_Del	DEL	C	TCGA-WY-A85D-01A-11D-A36O-08	301500	113901233	19950662	27	58394											
POLE	5426	broad.mit.edu	37	chr12	133220429	133220429	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	1	1	0	1	1	0	ggctggggagtcacctgagtCtcatatacgccctcgatgtc	7	10	12	12	2	2	1	2	1	1	0	5	3	2	2	2	3	1	1	2	3	2	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr12:133220429C>G	ENST00000320574.5	-	33	4327	c.4284G>C	c.(4282-4284)gaG>gaC	p.E1428D	POLE_ENST00000535270.1_Missense_Mutation_p.E1401D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1428					base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)		TCACCTGAGTCTCATATACGC	0.567								DNA polymerases (catalytic subunits)					G	133220429	C	G	133220429	3	3	795	1	0	0	0	0	1	0	0	0	12273	912	32	4	2644	4	POLE	12	133220429	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	19319196	133220429	631466	28	58395											
SYNE2	23224	broad.mit.edu	37	chr14	64656884	64656884	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gccagcaacaaatcaagagcAgctgagatcgatgacaagct	16	5	10	10	1	1	3	1	2	0	2	2	5	1	3	1	0	5	4	1	0	4	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr14:64656884A>T	ENST00000357395.3	+	100	18266	c.7122A>T	c.(7120-7122)gcA>gcT	p.A2374A	ESR2_ENST00000542956.1_Intron|SYNE2_ENST00000394768.2_Silent_p.A2374A|SYNE2_ENST00000344113.4_Silent_p.A5989A|SYNE2_ENST00000554584.1_Silent_p.A5852A|SYNE2_ENST00000555002.1_Silent_p.A2623A|SYNE2_ENST00000358025.3_Silent_p.A5989A			Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	5989					centrosome localization|cytoskeletal anchoring at nuclear membrane|nuclear migration along microfilament|positive regulation of cell migration	cytoskeleton|filopodium membrane|focal adhesion|integral to membrane|lamellipodium membrane|mitochondrial part|nuclear outer membrane|nucleoplasm|sarcoplasmic reticulum membrane|SUN-KASH complex|Z disc	actin binding|protein binding			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		AATCAAGAGCAGCTGAGATCG	0.398													T	64656884	A	T	64656884	2	4	795	1	0	0	0	0	0	0	0	1	15543	175	7	5		5	SYNE2	14	64656884	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		64656884	42692656	29	58396											
MEIS2	4212	broad.mit.edu	37	chr15	37329146	37329146	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	accaggtgaagctacactgtTgtctaaaccatcccctagta	12	10	7	12	0	1	1	0	1	1	0	2	1	2	1	4	1	3	3	4	1	6	5			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr15:37329146T>G	ENST00000338564.5	-	9	1215	c.769A>C	c.(769-771)Aac>Cac	p.N257H	MEIS2_ENST00000444725.1_Missense_Mutation_p.N257H|MEIS2_ENST00000340545.5_Missense_Mutation_p.N244H|MEIS2_ENST00000219869.9_Missense_Mutation_p.N111H|MEIS2_ENST00000397624.3_Missense_Mutation_p.N169H|MEIS2_ENST00000559085.1_Missense_Mutation_p.N244H|MEIS2_ENST00000561208.1_Missense_Mutation_p.N257H|MEIS2_ENST00000382766.2_Missense_Mutation_p.N257H|MEIS2_ENST00000397620.2_Missense_Mutation_p.N169H|MEIS2_ENST00000424352.2_Missense_Mutation_p.N257H|MEIS2_ENST00000559561.1_Missense_Mutation_p.N257H|MEIS2_ENST00000557796.2_Missense_Mutation_p.N244H	NM_001220482.1	NP_001207411.1	O14770	MEIS2_HUMAN	Meis homeobox 2	257	Asp/Glu-rich (acidic).				negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(7)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	36		all_epithelial(112;9.77e-14)|Lung NSC(122;1.42e-09)|all_lung(180;2.2e-08)|Ovarian(310;0.134)|Melanoma(134;0.155)		all cancers(64;9.33e-21)|GBM - Glioblastoma multiforme(113;1.71e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0288)		GCTACACTGTTGTCTAAACCA	0.408													G	37329146	T	G	37329146	3	3	795	1	0	0	0	0	1	0	0	0	9543	1812	63	5	747	5	MEIS2	15	37329146	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		37329146	65202246	30	58397											
PRSS21	10942	broad.mit.edu	37	chr16	2871093	2871093	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	gtgctggcaatgcccaaggcGggaaggatgcctgcttcgtg	7	8	16	10	2	0	0	0	0	0	0	1	2	0	2	2	4	4	3	2	4	3	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:2871093G>A	ENST00000455114.1	+	5	788	c.682G>A	c.(682-684)Ggg>Agg	p.G228R	PRSS21_ENST00000450020.3_Intron|PRSS21_ENST00000575739.1_Intron|PRSS21_ENST00000005995.3_Missense_Mutation_p.G230R	NM_001270452.1|NM_006799.3|NM_144956.2	NP_001257381.1|NP_006790.1|NP_659205.1	Q9Y6M0	TEST_HUMAN	protease, serine, 21 (testisin)	230	Peptidase S1.				proteolysis	anchored to membrane|cytoplasm|membrane fraction|plasma membrane	serine-type endopeptidase activity			breast(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	15						TGCCCAAGGCGGGAAGGATGC	0.542													A	2871093	G	A	2871093	3	1	795	1	0	0	0	0	1	0	0	0	12703	1116	39	1	706	1	PRSS21	16	2871093	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		2871093	87483660	31	58398											
CDH16	1014	broad.mit.edu	37	chr16	66945164	66945164	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gactgggcggtgtgcacctcCccggagaatttctcaatgca	8	9	12	12	2	1	1	1	0	1	1	3	3	2	1	3	3	2	2	3	3	2	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:66945164C>T	ENST00000299752.4	-	14	2038	c.1845G>A	c.(1843-1845)ggG>ggA	p.G615G	CDH16_ENST00000565796.1_Silent_p.G615G|CDH16_ENST00000570262.1_Silent_p.G535G|CDH16_ENST00000394055.3_Silent_p.G615G|CDH16_ENST00000568632.1_Silent_p.G518G	NM_001204744.1|NM_001204745.1|NM_004062.3	NP_001191673.1|NP_001191674.1|NP_004053.1	O75309	CAD16_HUMAN	cadherin 16, KSP-cadherin	615	Cadherin 6.				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding			endometrium(1)|kidney(3)|large_intestine(10)|lung(15)|ovary(2)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.0877)|Epithelial(162;0.203)		TGTGCACCTCCCCGGAGAATT	0.602													T	66945164	C	T	66945164	2	4	795	1	0	0	0	0	0	0	0	1	3131	610	22	2		2	CDH16	16	66945164	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	64074071	66945164	23409589	32	58399											
CNTNAP4	85445	broad.mit.edu	37	chr16	76389360	76389360	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agctacctcctgatgttcagTgatagtggctggaactggaa	10	11	12	8	0	1	2	1	2	0	0	2	4	2	4	2	3	3	3	2	3	4	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr16:76389360T>C	ENST00000307431.8	+	4	724	c.339T>C	c.(337-339)agT>agC	p.S113S	CNTNAP4_ENST00000476707.1_Silent_p.S117S|CNTNAP4_ENST00000377504.4_Silent_p.S113S|CNTNAP4_ENST00000478060.1_Silent_p.S89S|CNTNAP4_ENST00000469589.1_3'UTR	NM_033401.3	NP_207837.2	Q9C0A0	CNTP4_HUMAN	contactin associated protein-like 4	114	F5/8 type C.				cell adhesion|signal transduction	integral to membrane	receptor binding			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(6)|lung(33)|ovary(2)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	64						TGATGTTCAGTGATAGTGGCT	0.478													C	76389360	T	C	76389360	2	2	795	1	0	0	0	0	0	0	0	1	3680	1693	59	3		3	CNTNAP4	16	76389360	Silent	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08	9444196	76389360	13965393	33	58400											
TP53	7157	broad.mit.edu	37	chr17	7577108	7577108	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcgccggtctctcccaggaCaggcacaaacacgcacctca	10	5	9	17	3	2	0	1	0	1	0	4	1	3	1	3	3	2	2	3	3	1	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7577108C>T	ENST00000420246.2	-	8	962	c.830G>A	c.(829-831)tGt>tAt	p.C277Y	TP53_ENST00000269305.4_Missense_Mutation_p.C277Y|TP53_ENST00000455263.2_Missense_Mutation_p.C277Y|TP53_ENST00000359597.4_Missense_Mutation_p.C277Y|TP53_ENST00000445888.2_Missense_Mutation_p.C277Y|TP53_ENST00000413465.2_Intron	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	277	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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 an osteosarcoma 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.C277F(24)|p.C277Y(15)|p.0?(8)|p.?(2)|p.A276_R283delACPGRDRR(1)|p.C275fs*20(1)|p.A276fs*64(1)|p.L265_K305del41(1)|p.A276_C277delAC(1)|p.F270_D281del12(1)|p.V274_P278del(1)|p.S269fs*21(1)|p.C275fs*67(1)|p.C277S(1)|p.V272_K292del21(1)|p.C275_R283delCACPGRDRR(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)		TCTCCCAGGACAGGCACAAAC	0.547		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)			T	7577108	C	T	7577108	3	4	795	1	0	0	0	0	1	0	0	0	16482	478	17	2	456	2	TP53	17	7577108	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08		7577108	73618102	34	58401											
TP53	7157	broad.mit.edu	37	chr17	7578508	7578508	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caacccacagctgcacagggCaggtcttggccagttggcaa	10	6	12	13	0	1	0	0	0	1	0	1	0	1	0	2	4	3	5	2	4	2	2			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr17:7578508C>T	ENST00000420246.2	-	5	554	c.422G>A	c.(421-423)tGc>tAc	p.C141Y	TP53_ENST00000269305.4_Missense_Mutation_p.C141Y|TP53_ENST00000455263.2_Missense_Mutation_p.C141Y|TP53_ENST00000359597.4_Missense_Mutation_p.C141Y|TP53_ENST00000445888.2_Missense_Mutation_p.C141Y|TP53_ENST00000413465.2_Missense_Mutation_p.C141Y	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN	tumor protein p53	141	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		C -> A (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|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 LFS; 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.C141Y(79)|p.0?(8)|p.C9Y(5)|p.C48Y(5)|p.A138_P142delAKTCP(4)|p.C141F(4)|p.C141S(3)|p.N131fs*27(2)|p.C9S(1)|p.K139_C141>N(1)|p.L137_W146del10(1)|p.C141A(1)|p.A6_P10delAKTCP(1)|p.K139fs*4(1)|p.A45_P49delAKTCP(1)|p.T140fs*28(1)|p.A138_V143delAKTCPV(1)|p.C48S(1)|p.C141fs*5(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)		CTGCACAGGGCAGGTCTTGGC	0.572		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)			T	7578508	C	T	7578508	3	4	795	1	0	0	0	0	1	0	0	0	16482	710	25	2	876	2	TP53	17	7578508	Missense_Mutation	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	1400	7578508	73616702	35	58402											
AQP4	361	broad.mit.edu	37	chr18	24436242	24436242	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cctctccccggtcaacgtcaAtcacatgcaccactccaggt	9	8	6	18	2	4	0	3	0	1	0	6	0	5	0	5	2	2	1	5	2	2	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr18:24436242A>G	ENST00000383168.4	-	5	1033	c.905T>C	c.(904-906)aTt>aCt	p.I302T	AQP4_ENST00000440832.3_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000579964.1_RNA|AQP4_ENST00000581374.1_Missense_Mutation_p.I280T|AQP4-AS1_ENST00000582605.1_RNA	NM_001650.4|NM_004028.3	NP_001641.1|NP_004019.1	P55087	AQP4_HUMAN	aquaporin 4	302					cellular response to interferon-gamma|excretion|nervous system development	cytoplasm|external side of plasma membrane|integral to plasma membrane	water channel activity			kidney(2)|large_intestine(3)|lung(5)|skin(1)	11	all_cancers(21;0.0172)|Lung NSC(5;0.00299)|all_lung(6;0.00747)|Ovarian(20;0.124)					GTCAACGTCAATCACATGCAC	0.498													G	24436242	A	G	24436242	3	3	795	1	0	0	0	0	1	0	0	0	831	101	4	3	70	3	AQP4	18	24436242	Missense_Mutation	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08		24436242	53641006	36	58403											
USHBP1	83878	broad.mit.edu	37	chr19	17373549	17373549	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	acctgctcccccttcgcttgTgccttcgaactccatcggcc	4	11	7	19	3	0	0	0	0	0	0	5	1	2	0	6	1	3	2	6	1	1	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:17373549T>C	ENST00000252597.3	-	4	627	c.454A>G	c.(454-456)Aca>Gca	p.T152A	USHBP1_ENST00000431146.2_Missense_Mutation_p.T88A|USHBP1_ENST00000598570.1_5'UTR	NM_031941.3	NP_114147.2	Q8N6Y0	USBP1_HUMAN	Usher syndrome 1C binding protein 1	152							PDZ domain binding			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(10)|liver(1)|lung(12)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	44						CCTTCGCTTGTGCCTTCGAAC	0.672													C	17373549	T	C	17373549	3	2	795	1	0	0	0	0	1	0	0	0	17139	1696	59	3	1697	3	USHBP1	19	17373549	Missense_Mutation	SNP	T	TCGA-WY-A85D-01A-11D-A36O-08		17373549	41755434	37	58404											
ZNF576	79177	broad.mit.edu	37	chr19	44103081	44103081	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gggagcacccagcggacttcGtggcccagaagctgcagggg	8	4	17	12	2	0	1	0	0	0	1	1	3	0	3	2	5	4	3	2	5	1	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:44103081G>A	ENST00000336564.4	+	3	338	c.184G>A	c.(184-186)Gtg>Atg	p.V62M	SRRM5_ENST00000526798.1_Intron|SRRM5_ENST00000607544.1_Intron|ZNF576_ENST00000528387.1_Missense_Mutation_p.V62M|ZNF576_ENST00000533118.1_Missense_Mutation_p.V62M|ZNF576_ENST00000525771.1_Missense_Mutation_p.V62M|ZNF576_ENST00000529930.1_Missense_Mutation_p.V62M|ZNF576_ENST00000391965.2_Missense_Mutation_p.V62M	NM_001145347.1	NP_001138819.1	Q9H609	ZN576_HUMAN	zinc finger protein 576	62					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding			endometrium(1)|prostate(1)	2		Prostate(69;0.0199)				AGCGGACTTCGTGGCCCAGAA	0.647													A	44103081	G	A	44103081	3	1	795	1	0	0	0	0	1	0	0	0	18109	1145	40	1	190	1	ZNF576	19	44103081	Missense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	26729532	44103081	15025902	38	58405											
GLTSCR2	29997	broad.mit.edu	37	chr19	48248903	48248903	+	Silent	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	ctggggctgcggcccacttcGgtggacccagcgctgaggcg	4	6	17	14	4	0	1	0	1	0	0	1	2	0	2	2	6	2	2	2	6	0	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:48248903G>T	ENST00000246802.5	+	1	125	c.87G>T	c.(85-87)tcG>tcT	p.S29S	GLTSCR2_ENST00000598681.1_3'UTR	NM_015710.4	NP_056525.2	Q9NZM5	GSCR2_HUMAN	glioma tumor suppressor candidate region gene 2	29						nucleolus				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)	15		all_cancers(25;1.47e-06)|all_lung(116;6.89e-05)|all_epithelial(76;0.000108)|Lung NSC(112;0.000117)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000301)|OV - Ovarian serous cystadenocarcinoma(262;0.00031)|Epithelial(262;0.0149)|GBM - Glioblastoma multiforme(486;0.0278)		GGCCCACTTCGGTGGACCCAG	0.657													T	48248903	G	T	48248903	2	4	795	1	0	0	0	0	0	0	0	1	6531	1103	39	4		4	GLTSCR2	19	48248903	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4145822	48248903	10880080	39	58406											
RCN3	57333	broad.mit.edu	37	chr19	50031744	50031744	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaccgatgatgtggcgaccAtcagttctgctgcttctgtt	6	13	12	10	2	3	1	1	1	2	0	3	4	3	2	2	2	2	4	2	2	0	3			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:50031744A>G	ENST00000270645.3	+	2	462	c.15A>G	c.(13-15)ccA>ccG	p.P5P		NM_020650.2	NP_065701.2	Q96D15	RCN3_HUMAN	reticulocalbin 3, EF-hand calcium binding domain	5						endoplasmic reticulum lumen	calcium ion binding|protein binding			endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	12		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00295)|GBM - Glioblastoma multiforme(134;0.0159)		TGTGGCGACCATCAGTTCTGC	0.667													G	50031744	A	G	50031744	2	3	795	1	0	0	0	0	0	0	0	1	13269	204	8	3		3	RCN3	19	50031744	Silent	SNP	A	TCGA-WY-A85D-01A-11D-A36O-08	1782841	50031744	9097239	40	58407											
NLRP5	126206	broad.mit.edu	37	chr19	56538685	56538685	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggctgttgttcatcattgaCggtttcgatgacctgggctc	6	14	12	9	2	2	2	2	2	0	0	4	3	2	2	1	3	0	5	1	3	0	4			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr19:56538685C>T	ENST00000390649.3	+	7	1086	c.1086C>T	c.(1084-1086)gaC>gaT	p.D362D		NM_153447.4	NP_703148.4	P59047	NALP5_HUMAN	NLR family, pyrin domain containing 5	362	NACHT.					mitochondrion|nucleolus	ATP binding			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|ovary(5)|skin(2)|stomach(4)|upper_aerodigestive_tract(2)	25		Colorectal(82;3.46e-05)|Ovarian(87;0.0481)|Renal(1328;0.157)		GBM - Glioblastoma multiforme(193;0.0326)		TCATCATTGACGGTTTCGATG	0.547													T	56538685	C	T	56538685	2	4	795	1	0	0	0	0	0	0	0	1	10556	535	19	1		1	NLRP5	19	56538685	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	6506941	56538685	2590298	41	58408											
SCARF2	91179	broad.mit.edu	37	chr22	20783912	20783912	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aggacgagcagcgcgcccgcGcccatcacgcccttgcgctg	6	4	13	18	7	1	0	1	0	0	0	1	2	1	1	3	1	3	2	3	1	0	1			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:20783912G>A	ENST00000405555.3	-	8	1405	c.1335C>T	c.(1333-1335)ggC>ggT	p.G445G	SCARF2_ENST00000266214.5_Silent_p.G445G	NM_182895.2	NP_878315.1	Q96GP6	SREC2_HUMAN	scavenger receptor class F, member 2	445					cell adhesion	integral to membrane	protein binding|receptor activity			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|skin(2)	10	Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.219)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)			GCGCGCCCGCGCCCATCACGC	0.677													A	20783912	G	A	20783912	2	1	795	1	0	0	0	0	0	0	0	1	13976	1074	38	1		1	SCARF2	22	20783912	Silent	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08		20783912	30520654	42	58409											
CCDC116	164592	broad.mit.edu	37	chr22	21989105	21989105	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgctgggctcaagctctggCgtgcctgaagcatcagagcc	7	8	13	13	1	3	2	2	1	1	1	3	2	3	2	2	2	5	4	2	2	2	0			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chr22:21989105C>T	ENST00000292779.3	+	4	914	c.753C>T	c.(751-753)ggC>ggT	p.G251G	CCDC116_ENST00000607942.1_Silent_p.G251G	NM_152612.2	NP_689825.2	Q8IYX3	CC116_HUMAN	coiled-coil domain containing 116	251										endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(5)	22	Colorectal(54;0.105)					CAAGCTCTGGCGTGCCTGAAG	0.572													T	21989105	C	T	21989105	2	4	795	1	0	0	0	0	0	0	0	1	2779	755	27	1		1	CCDC116	22	21989105	Silent	SNP	C	TCGA-WY-A85D-01A-11D-A36O-08	1205193	21989105	29315461	43	58410											
NAP1L2	4674	broad.mit.edu	37	chrX	72433664	72433666	+	In_Frame_Del	DEL	TCC	TCC	-																															ctccagtagcctcaatgtcgTcctcctcctcctcctcctcc																										TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:72433664_72433666delTCC	ENST00000373517.3	-	1	1018_1020	c.663_665delGGA	c.(661-666)gaggac>gac	p.E221del	NAP1L2_ENST00000536638.1_In_Frame_Del_p.E79del	NM_021963.3	NP_068798.1	Q9ULW6	NP1L2_HUMAN	nucleosome assembly protein 1-like 2	221	Glu-rich (acidic).				nucleosome assembly	chromatin assembly complex				NS(1)|breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(12)|skin(3)	29	Renal(35;0.156)					CTCAATGTCGtcctcctcctcct	0.424													-	72433666	TCC	-	72433664	7	5	795	1	0	1	0	1	0	0	0	0	10233	1667	58	0	721	0	NAP1L2	23	72433664	In_Frame_Del	DEL	TCC	TCGA-WY-A85D-01A-11D-A36O-08		72433664	82836896	44	58411											
ATRX	546	broad.mit.edu	37	chrX	76814253	76814253	+	Nonsense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	agcgtcgaatataattactcGattagcagctaccagattaa	15	11	7	8	3	0	1	0	0	0	1	2	3	0	1	1	0	5	2	1	0	7	6			TCGA-WY-A85D-01A-11D-A36O-08	TCGA-WY-A85D-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	577d0588-d7bf-4c36-bedf-48df83824fc0	4accff73-f2d9-4a7f-ac9f-54c1f1e62555	g.chrX:76814253G>A	ENST00000373344.5	-	29	6605	c.6391C>T	c.(6391-6393)Cga>Tga	p.R2131*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R2093*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	2131	Helicase C-terminal.		R -> Q (in MRXSHF1; originally reported as Juberg-Marsidi syndrome).		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)	ATAATTACTCGATTAGCAGCT	0.328			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						A	76814253	G	A	76814253	4	1	795	1	0	0	0	0	0	1	0	0	1213	1066	37	1	1115	1	ATRX	23	76814253	Nonsense_Mutation	SNP	G	TCGA-WY-A85D-01A-11D-A36O-08	4380589	76814253	78456307	45	58412											
PIK3CD	5293	broad.mit.edu	37	chr1	9783245	9783245	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	cctcattgaggtggtactccGttcagacaccatcgccaaca	10	9	8	14	2	2	2	2	1	0	1	4	2	3	2	4	2	2	2	4	2	2	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:9783245G>A	ENST00000536656.1	+	20	2769	c.2561G>A	c.(2560-2562)cGt>cAt	p.R854H	PIK3CD_ENST00000361110.2_Missense_Mutation_p.R854H|PIK3CD_ENST00000377346.4_Missense_Mutation_p.R830H			O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	830	PI3K/PI4K.				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)		GTGGTACTCCGTTCAGACACC	0.587													A	9783245	G	A	9783245	3	1	796	1	0	0	0	0	1	0	0	0	11992	1145	40	1	2559	1	PIK3CD	1	9783245	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		9783245	239467376	1	58413											
PRDM2	7799	broad.mit.edu	37	chr1	14105561	14105561	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	gcggaaacccagccaaacacTacagccgtcagaggatctgg	13	4	11	13	2	2	1	1	0	1	1	2	3	2	3	3	3	5	0	3	3	3	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:14105561T>G	ENST00000235372.7	+	8	2127	c.1271T>G	c.(1270-1272)cTa>cGa	p.L424R	PRDM2_ENST00000311066.5_Missense_Mutation_p.L424R|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.L223R|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.L223R	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	424						Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		AGCCAAACACTACAGCCGTCA	0.522													G	14105561	T	G	14105561	3	3	796	1	0	0	0	0	1	0	0	0	12544	1522	53	5	1297	5	PRDM2	1	14105561	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	4322316	14105561	235145060	2	58414											
DPYD	1806	broad.mit.edu	37	chr1	97547949	97547949	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ttgatacacatttcttcatcAatcatagccacaacttgctc	12	14	3	12	0	4	1	3	1	1	0	5	1	4	1	1	0	4	1	1	0	4	6			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:97547949A>C	ENST00000370192.3	-	22	2944	c.2844T>G	c.(2842-2844)atT>atG	p.I948M		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	948	4Fe-4S ferredoxin-type 2.				'de novo' pyrimidine base biosynthetic process|purine base catabolic process|thymidine catabolic process|thymine catabolic process|UMP biosynthetic process|uracil catabolic process	cytosol	4 iron, 4 sulfur cluster binding|dihydroorotate oxidase activity|dihydropyrimidine dehydrogenase (NADP+) activity|electron carrier activity|flavin adenine dinucleotide binding|metal ion binding|NADP binding|protein homodimerization activity			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Enfuvirtide(DB00109)	TTTCTTCATCAATCATAGCCA	0.388													C	97547949	A	C	97547949	3	2	796	1	0	0	0	0	1	0	0	0	4784	126	5	5	241	5	DPYD	1	97547949	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	83442388	97547949	151702672	3	58415											
FLG	2312	broad.mit.edu	37	chr1	152285646	152285646	+	Silent	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctcctgattgttcctcattTcgtgtttgtctgcttgcact	3	20	7	11	1	3	1	1	1	2	0	6	1	4	1	2	0	2	4	2	0	0	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:152285646T>G	ENST00000368799.1	-	3	1751	c.1716A>C	c.(1714-1716)cgA>cgC	p.R572R	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	572	Ser-rich.				keratinocyte differentiation	cytoplasmic membrane-bounded vesicle|intermediate filament	calcium ion binding|structural molecule activity			autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCCTCATTTCGTGTTTGTC	0.562									Ichthyosis				G	152285646	T	G	152285646	2	3	796	1	0	0	0	0	0	0	0	1	5971	1770	62	5		5	FLG	1	152285646	Silent	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	54737697	152285646	96964975	4	58416											
IL6R	3570	broad.mit.edu	37	chr1	154422442	154422442	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cttcagagattctgcaaatgCgacaagcctcccaggtaagg	12	8	10	11	1	2	1	1	0	1	1	3	3	3	1	2	2	3	2	2	2	3	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:154422442C>T	ENST00000368485.3	+	8	1489	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	IL6R_ENST00000344086.4_Missense_Mutation_p.A351V|IL6R_ENST00000507256.1_3'UTR	NM_000565.3	NP_000556.1	P08887	IL6RA_HUMAN	interleukin 6 receptor	351					acute-phase response|ciliary neurotrophic factor-mediated signaling pathway|defense response to Gram-negative bacterium|defense response to Gram-positive bacterium|endocrine pancreas development|hepatic immune response|negative regulation of collagen biosynthetic process|negative regulation of interleukin-8 production|positive regulation of activation of Janus kinase activity|positive regulation of anti-apoptosis|positive regulation of chemokine production|positive regulation of interleukin-6 production|positive regulation of leukocyte chemotaxis|positive regulation of MAPKKK cascade|positive regulation of osteoblast differentiation|positive regulation of smooth muscle cell proliferation|positive regulation of tyrosine phosphorylation of Stat3 protein|regulation of apoptosis	apical plasma membrane|basolateral plasma membrane|extracellular space|interleukin-6 receptor complex	ciliary neurotrophic factor binding|enzyme binding|protein homodimerization activity		IL6R/ATP8B2(2)	breast(2)|large_intestine(1)|ovary(3)	6	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			TCTGCAAATGCGACAAGCCTC	0.428													T	154422442	C	T	154422442	3	4	796	1	0	0	0	0	1	0	0	0	7760	768	27	1	1082	1	IL6R	1	154422442	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2136796	154422442	94828179	5	58417											
ASH1L	55870	broad.mit.edu	37	chr1	155317506	155317506	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	gtagaggccacagatacagcGaataacatcgtcgtccttct	12	9	9	11	3	1	2	0	0	1	2	4	3	2	2	2	1	3	1	2	1	4	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:155317506G>A	ENST00000368346.3	-	20	8398	c.7759C>T	c.(7759-7761)Cgc>Tgc	p.R2587C	ASH1L_ENST00000392403.3_Missense_Mutation_p.R2582C			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	2587					cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CAGATACAGCGAATAACATCG	0.488													A	155317506	G	A	155317506	3	1	796	1	0	0	0	0	1	0	0	0	1046	1058	37	1	1186	1	ASH1L	1	155317506	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	895064	155317506	93933115	6	58418											
FCGR2A	2212	broad.mit.edu	37	chr1	161479832	161479832	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaacataggctacacgctgtTctcatccaagcctgtgacca	12	9	7	13	1	1	1	1	1	1	0	3	1	2	1	3	1	3	3	3	1	4	3	rs141094947		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:161479832T>A	ENST00000271450.6	+	4	625	c.587T>A	c.(586-588)tTc>tAc	p.F196Y	FCGR2A_ENST00000367972.4_Missense_Mutation_p.F195Y	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	196	Ig-like C2-type 2.					integral to membrane|plasma membrane	IgG binding|receptor activity			autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	TACACGCTGTTCTCATCCAAG	0.527													A	161479832	T	A	161479832	3	1	796	1	0	0	0	0	1	0	0	0	5830	1783	62	5	601	5	FCGR2A	1	161479832	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	6162326	161479832	87770789	7	58419											
IL10	3586	broad.mit.edu	37	chr1	206943190	206943190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	tcaccttattaaaggcattcTtcacctgctccacggccttg	8	13	6	14	1	3	0	2	0	1	0	4	0	4	0	4	2	1	2	4	2	3	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:206943190T>C	ENST00000423557.1	-	4	486	c.428A>G	c.(427-429)aAg>aGg	p.K143R	IL10_ENST00000471071.1_5'UTR	NM_000572.2	NP_000563.1	P22301	IL10_HUMAN	interleukin 10	143					anti-apoptosis|B cell differentiation|B cell proliferation|cytoplasmic sequestering of NF-kappaB|inflammatory response|leukocyte chemotaxis|negative regulation of B cell proliferation|negative regulation of cytokine secretion involved in immune response|negative regulation of interferon-alpha biosynthetic process|negative regulation of interleukin-6 production|negative regulation of membrane protein ectodomain proteolysis|negative regulation of MHC class II biosynthetic process|negative regulation of T cell proliferation|positive regulation of B cell apoptosis|positive regulation of cytokine secretion|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription, DNA-dependent|receptor biosynthetic process|regulation of isotype switching|response to glucocorticoid stimulus|type 2 immune response	extracellular space	cytokine activity|growth factor activity|interleukin-10 receptor binding			endometrium(1)|large_intestine(6)|lung(4)|prostate(1)	12	Breast(84;0.183)		BRCA - Breast invasive adenocarcinoma(75;0.211)			AAAGGCATTCTTCACCTGCTC	0.527													C	206943190	T	C	206943190	3	2	796	1	0	0	0	0	1	0	0	0	7677	1609	56	3	116	3	IL10	1	206943190	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	45463358	206943190	42307431	8	58420											
OBSCN	84033	broad.mit.edu	37	chr1	228476495	228476495	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	aggcaggacggggctgtgtgCgagctgcagatctgtggcct	6	8	18	9	2	1	1	0	0	1	1	1	3	1	2	1	5	3	4	1	5	0	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr1:228476495C>T	ENST00000570156.2	+	43	11606	c.11532C>T	c.(11530-11532)tgC>tgT	p.C3844C	OBSCN_ENST00000366707.4_Silent_p.C534C|OBSCN_ENST00000359599.6_Silent_p.C2262C|OBSCN_ENST00000284548.11_Silent_p.C3415C|OBSCN_ENST00000422127.1_Silent_p.C3415C|OBSCN_ENST00000366709.4_Silent_p.C534C	NM_001271223.2	NP_001258152.2	Q5VST9	OBSCN_HUMAN	obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF	2881	Ig-like 39.				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|multicellular organismal development|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|M band|Z disc	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity|Rho guanyl-nucleotide exchange factor activity|structural constituent of muscle|titin binding			NS(2)|breast(7)|central_nervous_system(5)|cervix(2)|endometrium(30)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(37)|lung(89)|ovary(8)|pancreas(3)|prostate(13)|skin(6)|stomach(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	223		Prostate(94;0.0405)				GGGCTGTGTGCGAGCTGCAGA	0.632													T	228476495	C	T	228476495	2	4	796	1	0	0	0	0	0	0	0	1	10888	776	27	1		1	OBSCN	1	228476495	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	21533305	228476495	20774126	9	58421											
MYT1L	23040	broad.mit.edu	37	chr2	1914018	1914018	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctcctgctgggtacctgagcAcgcggtccgaggcctggctg	4	8	15	14	3	0	1	0	1	0	0	2	2	2	1	4	4	3	4	4	4	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:1914018A>G	ENST00000399161.2	-	13	2558	c.1811T>C	c.(1810-1812)gTg>gCg	p.V604A	MYT1L_ENST00000428368.2_Missense_Mutation_p.V602A	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	604					cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		GTACCTGAGCACGCGGTCCGA	0.632													G	1914018	A	G	1914018	3	3	796	1	0	0	0	0	1	0	0	0	10183	159	6	3	1801	3	MYT1L	2	1914018	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		1914018	241285355	10	58422											
APOB	338	broad.mit.edu	37	chr2	21230915	21230915	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgaaactaatttgtgattcaTgtgttccctcatctgagaat	11	16	7	7	0	3	3	2	3	1	1	4	4	4	3	1	0	1	1	1	0	3	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:21230915T>C	ENST00000233242.1	-	26	8952	c.8825A>G	c.(8824-8826)cAt>cGt	p.H2942R		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2942					cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)				Atorvastatin(DB01076)	TTGTGATTCATGTGTTCCCTC	0.438													C	21230915	T	C	21230915	3	2	796	1	0	0	0	0	1	0	0	0	788	1464	51	3	4882	3	APOB	2	21230915	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	19316897	21230915	221968458	11	58423											
ASTL	431705	broad.mit.edu	37	chr2	96799705	96799705	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	gcgcgccatgctcactcaccGtacttgctggagagcaggaa	9	7	12	13	3	2	1	2	0	0	1	2	3	2	2	2	2	4	4	2	2	2	2	rs148110898		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:96799705G>A	ENST00000342380.2	-	4	335	c.336C>T	c.(334-336)taC>taT	p.Y112Y		NM_001002036.3	NP_001002036.3	Q6HA08	ASTL_HUMAN	astacin-like metallo-endopeptidase (M12 family)	112					proteolysis		metalloendopeptidase activity|zinc ion binding			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(13)|ovary(1)|prostate(1)|skin(2)	30						CTCACTCACCGTACTTGCTGG	0.582													A	96799705	G	A	96799705	5	1	796	1	0	0	0	0	0	0	1	0	1068	1159	40	1	982	1	ASTL	2	96799705	Splice_Site	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	75568790	96799705	146399668	12	58424											
THSD7B	80731	broad.mit.edu	37	chr2	137852651	137852651	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	ctgaacttcttgagaaagagGcctgcattgttgaaggagaa	13	10	12	6	0	1	5	0	3	1	3	1	7	1	5	1	2	2	2	1	2	4	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:137852651G>T	ENST00000409968.1	+	4	1337	c.1159G>T	c.(1159-1161)Gcc>Tcc	p.A387S	THSD7B_ENST00000272643.3_Missense_Mutation_p.A387S|THSD7B_ENST00000413152.2_Missense_Mutation_p.A356S|THSD7B_ENST00000543459.1_Missense_Mutation_p.A246S					thrombospondin, type I, domain containing 7B											NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TGAGAAAGAGGCCTGCATTGT	0.468													T	137852651	G	T	137852651	3	4	796	1	0	0	0	0	1	0	0	0	15980	1203	42	4	1076	4	THSD7B	2	137852651	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	41052946	137852651	105346722	13	58425											
SPATS2L	26010	broad.mit.edu	37	chr2	201303981	201303981	+	Silent	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agcaagcctaaggcaaaaacAtctcctgttaagtccaatac	16	8	6	11	0	1	0	0	0	1	0	3	0	2	0	3	1	4	3	3	1	7	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:201303981A>T	ENST00000358677.5	+	7	829	c.582A>T	c.(580-582)acA>acT	p.T194T	SPATS2L_ENST00000451764.2_Silent_p.T194T|SPATS2L_ENST00000409385.1_Silent_p.T134T|SPATS2L_ENST00000360760.5_Intron|SPATS2L_ENST00000409988.3_Silent_p.T194T|SPATS2L_ENST00000409755.3_Silent_p.T224T|SPATS2L_ENST00000409151.1_Silent_p.T202T|SPATS2L_ENST00000409718.1_Silent_p.T194T|SPATS2L_ENST00000409140.3_Silent_p.T194T	NM_001282735.1|NM_001282743.1|NM_001282744.1|NM_015535.2	NP_001269664.1|NP_001269672.1|NP_001269673.1|NP_056350.2	Q9NUQ6	SPS2L_HUMAN	spermatogenesis associated, serine-rich 2-like							cytoplasm|nucleolus				endometrium(1)|kidney(1)|lung(4)|ovary(2)|pancreas(1)|prostate(1)	10						AGGCAAAAACATCTCCTGTTA	0.443													T	201303981	A	T	201303981	2	4	796	1	0	0	0	0	0	0	0	1	15116	204	8	5		5	SPATS2L	2	201303981	Silent	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	63451330	201303981	41895392	14	58426											
IDH1	3417	broad.mit.edu	37	chr2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cttgatccccataagcatgaCgacctatgatgataggtttt	11	13	8	9	1	0	4	0	4	0	0	1	5	1	4	3	1	1	2	3	1	3	6	rs121913500		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_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	0.393			Mis		gliobastoma								T	209113112	C	T	209113112	3	4	796	1	0	0	0	0	1	0	0	0	7552	536	19	1	877	1	IDH1	2	209113112	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	7809131	209113112	34086261	15	58427											
LRRN1	57633	broad.mit.edu	37	chr3	3887104	3887104	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agtccctcaacttgccctgcAaaaagttccaaatttgaaat	14	11	5	11	0	1	1	1	1	0	0	3	1	3	1	3	0	3	2	3	0	5	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:3887104A>G	ENST00000319331.3	+	2	1540	c.779A>G	c.(778-780)cAa>cGa	p.Q260R	SUMF1_ENST00000534863.1_Intron	NM_020873.5	NP_065924.3	Q6UXK5	LRRN1_HUMAN	leucine rich repeat neuronal 1	260						integral to membrane				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)|skin(1)|urinary_tract(2)	26				Epithelial(13;0.000886)|all cancers(10;0.0032)|OV - Ovarian serous cystadenocarcinoma(96;0.00608)|STAD - Stomach adenocarcinoma(44;0.0617)		CTTGCCCTGCAAAAAGTTCCA	0.398													G	3887104	A	G	3887104	3	3	796	1	0	0	0	0	1	0	0	0	9104	130	5	3	781	3	LRRN1	3	3887104	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		3887104	194135326	16	58428											
ACVR2B	93	broad.mit.edu	37	chr3	38519421	38519421	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgtgaaggcaacttctgcaaCgaacgcttcactcatttgcc	10	11	8	12	2	3	1	2	1	1	0	3	2	3	1	1	1	5	3	1	1	4	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:38519421C>T	ENST00000352511.4	+	3	802	c.330C>T	c.(328-330)aaC>aaT	p.N110N		NM_001106.3	NP_001097.2	Q13705	AVR2B_HUMAN	activin A receptor, type IIB						activin receptor signaling pathway|anterior/posterior pattern formation|BMP signaling pathway|positive regulation of activin receptor signaling pathway|positive regulation of bone mineralization|positive regulation of osteoblast differentiation|regulation of transcription, DNA-dependent	cell surface|cytoplasm|integral to plasma membrane	activin receptor activity|ATP binding|growth factor binding|metal ion binding|receptor signaling protein serine/threonine kinase activity|transforming growth factor beta receptor activity			lung(1)	1	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0565)|Kidney(284;0.071)		ACTTCTGCAACGAACGCTTCA	0.582													T	38519421	C	T	38519421	2	4	796	1	0	0	0	0	0	0	0	1	224	535	19	1		1	ACVR2B	3	38519421	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	34632317	38519421	159503009	17	58429											
STAB1	23166	broad.mit.edu	37	chr3	52539037	52539037	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaatactcctacaagtacAaagaccagccccagcagacg	17	4	7	13	1	0	3	0	0	0	3	1	3	1	3	4	0	5	2	4	0	6	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:52539037A>G	ENST00000321725.6	+	13	1472	c.1396A>G	c.(1396-1398)Aaa>Gaa	p.K466E		NM_015136.2	NP_055951.2	Q9NY15	STAB1_HUMAN	stabilin 1	466	FAS1 1.				cell adhesion|cell-cell signaling|defense response to bacterium|inflammatory response|negative regulation of angiogenesis|receptor-mediated endocytosis	integral to plasma membrane	bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity			breast(4)|central_nervous_system(3)|endometrium(7)|kidney(2)|large_intestine(13)|liver(1)|lung(27)|ovary(1)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	76				BRCA - Breast invasive adenocarcinoma(193;1.73e-05)|Kidney(197;0.00182)|KIRC - Kidney renal clear cell carcinoma(197;0.00205)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		CTACAAGTACAAAGACCAGCC	0.587													G	52539037	A	G	52539037	3	3	796	1	0	0	0	0	1	0	0	0	15333	131	5	3	1446	3	STAB1	3	52539037	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	14019616	52539037	145483393	18	58430											
MORC1	27136	broad.mit.edu	37	chr3	108780872	108780872	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	aggttctgtcacactggtttActttgatttgtgcttctttc	5	20	8	8	0	3	1	1	1	2	0	4	1	3	1	0	2	2	3	0	2	1	7			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:108780872A>C	ENST00000232603.5	-	11	1011	c.929T>G	c.(928-930)gTa>gGa	p.V310G	MORC1_ENST00000483760.1_Missense_Mutation_p.V310G	NM_014429.3	NP_055244.3	Q86VD1	MORC1_HUMAN	MORC family CW-type zinc finger 1	310					cell differentiation|multicellular organismal development|spermatogenesis	nucleus	ATP binding|zinc ion binding			breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ACACTGGTTTACTTTGATTTG	0.338													C	108780872	A	C	108780872	3	2	796	1	0	0	0	0	1	0	0	0	9777	391	14	5	2097	5	MORC1	3	108780872	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	56241835	108780872	89241558	19	58431											
PIK3CA	5290	broad.mit.edu	37	chr3	178928226	178928226	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ttccatctcttaggaaactcCatgcttagagttggagtttg	9	15	9	8	0	1	1	0	0	1	1	4	3	3	3	2	2	2	3	2	2	3	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr3:178928226C>T	ENST00000263967.3	+	9	1569	c.1412C>T	c.(1411-1413)cCa>cTa	p.P471L		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	471	C2 PI3K-type.				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	p.P471L(6)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)			TAGGAAACTCCATGCTTAGAG	0.368		57	Mis		"colorectal, gastric, gliobastoma, breast"					HNSCC(19;0.045)|TSP Lung(28;0.18)			T	178928226	C	T	178928226	3	4	796	1	0	0	0	0	1	0	0	0	11990	594	21	2	1442	2	PIK3CA	3	178928226	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	70147354	178928226	19094204	20	58432											
CORIN	10699	broad.mit.edu	37	chr4	47605646	47605646	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	1	0	1	1	0	1	gatggatggtctagattgttGatgccaagcaccactttcca	10	12	10	9	0	1	2	0	1	1	1	2	4	2	3	3	2	2	2	3	2	2	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:47605646G>A	ENST00000273857.4	-	20	2579	c.2580C>T	c.(2578-2580)atC>atT	p.I860I	CORIN_ENST00000502252.1_Silent_p.I793I|CORIN_ENST00000505909.1_Silent_p.I823I|CORIN_ENST00000508498.1_Silent_p.I721I	NM_006587.2	NP_006578.2	Q9Y5Q5	CORIN_HUMAN	corin, serine peptidase	860	Peptidase S1.				peptide hormone processing|regulation of systemic arterial blood pressure by atrial natriuretic peptide	integral to membrane|plasma membrane	scavenger receptor activity|serine-type endopeptidase activity|serine-type exopeptidase activity			NS(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(18)|lung(39)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)	79						CTAGATTGTTGATGCCAAGCA	0.428													A	47605646	G	A	47605646	2	1	796	1	0	0	0	0	0	0	0	1	3783	1280	45	2		2	CORIN	4	47605646	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		47605646	143548630	21	58433											
CSN3	1448	broad.mit.edu	37	chr4	71115134	71115134	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	gagtccatcatcacgagcacCcctgagacaaccacagttgc	12	6	8	15	1	2	1	2	1	0	1	3	4	3	1	4	0	3	2	4	0	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:71115134C>A	ENST00000304954.3	+	4	593	c.507C>A	c.(505-507)acC>acA	p.T169T		NM_005212.2	NP_005203.2	P07498	CASK_HUMAN	casein kappa	169						extracellular region	protein binding			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(5)|ovary(2)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	18						TCACGAGCACCCCTGAGACAA	0.448													A	71115134	C	A	71115134	2	1	796	1	0	0	0	0	0	0	0	1	3982	610	22	4		4	CSN3	4	71115134	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	23509488	71115134	120039142	22	58434											
PITX2	5308	broad.mit.edu	37	chr4	111539467	111539467	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ggacaggcaggcgtcggcacCgcggaattcagcgacgggct	8	4	17	12	6	1	0	1	0	0	0	2	3	1	2	1	6	1	3	1	6	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr4:111539467C>A	ENST00000354925.2	-	7	2473	c.768G>T	c.(766-768)gcG>gcT	p.A256A	PITX2_ENST00000394598.2_Silent_p.A256A|PITX2_ENST00000306732.3_Silent_p.A263A|PITX2_ENST00000355080.5_Silent_p.A210A|PITX2_ENST00000394595.3_3'UTR	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2	256					determination of left/right symmetry|organ morphogenesis	transcription factor complex	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GCGTCGGCACCGCGGAATTCA	0.597													A	111539467	C	A	111539467	2	1	796	1	0	0	0	0	0	0	0	1	12032	639	23	4		4	PITX2	4	111539467	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	40424333	111539467	79614809	23	58435											
SLC6A3	6531	broad.mit.edu	37	chr5	1414807	1414807	+	Splice_Site	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggaggggctcaccGtccttggccacgtccccgat	6	7	13	15	3	1	0	1	0	0	0	3	2	3	1	5	4	2	3	5	4	0	1	rs145114326		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:1414807G>A	ENST00000270349.9	-	8	1282	c.1155C>T	c.(1153-1155)gaC>gaT	p.D385D	SLC6A3_ENST00000453492.2_Splice_Site_p.D385D	NM_001044.4	NP_001035.1	Q01959	SC6A3_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 3	385					cell death|neurotransmitter biosynthetic process	axon|cytoplasm|integral to plasma membrane|neuronal cell body				breast(2)|endometrium(4)|kidney(1)|large_intestine(3)|lung(19)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	38			OV - Ovarian serous cystadenocarcinoma(19;0.00928)|all cancers(22;0.0262)		Amphetamine(DB00182)|Benztropine(DB00245)|Bupropion(DB01156)|Chloroprocaine(DB01161)|Cocaine(DB00907)|Dextroamphetamine(DB01576)|Diethylpropion(DB00937)|Duloxetine(DB00476)|Fencamfamine(DB01463)|Mazindol(DB00579)|Methylphenidate(DB00422)|Modafinil(DB00745)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Procaine(DB00721)	GGGGCTCACCGTCCTTGGCCA	0.607													A	1414807	G	A	1414807	5	1	796	1	0	0	0	0	0	0	1	0	14779	1159	40	1	739	1	SLC6A3	5	1414807	Splice_Site	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		1414807	179500453	24	58436											
EGFLAM	133584	broad.mit.edu	37	chr5	38435297	38435297	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	cattggcggagtccccaattAtgatgatgtgaagaagaact	13	10	11	7	1	0	5	0	3	0	2	1	6	1	6	2	2	1	0	2	2	5	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:38435297A>G	ENST00000322350.5	+	16	2571	c.2225A>G	c.(2224-2226)tAt>tGt	p.Y742C	EGFLAM_ENST00000336740.6_Missense_Mutation_p.Y508C|EGFLAM_ENST00000397202.2_Missense_Mutation_p.Y108C|EGFLAM_ENST00000354891.3_Missense_Mutation_p.Y742C	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	742	Laminin G-like 2.					cell junction|proteinaceous extracellular matrix|synapse				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTCCCCAATTATGATGATGTG	0.453													G	38435297	A	G	38435297	3	3	796	1	0	0	0	0	1	0	0	0	5005	449	16	3	2301	3	EGFLAM	5	38435297	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	37020490	38435297	142479963	25	58437											
PTGER4	5734	broad.mit.edu	37	chr5	40681653	40681653	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	gcgcacgccgcctactcctaCatgtacgcgggcttcagctc	6	8	10	17	5	1	0	1	0	0	0	3	0	2	0	3	1	4	4	3	1	3	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:40681653C>T	ENST00000302472.3	+	2	1582	c.558C>T	c.(556-558)taC>taT	p.Y186Y	PTGER4_ENST00000514343.1_3'UTR	NM_000958.2	NP_000949.1	P35408	PE2R4_HUMAN	prostaglandin E receptor 4 (subtype EP4)	186					G-protein signaling, coupled to cAMP nucleotide second messenger|immune response	integral to membrane|plasma membrane	prostaglandin E receptor activity			breast(1)|endometrium(3)|liver(1)|lung(13)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						CCTACTCCTACATGTACGCGG	0.637													T	40681653	C	T	40681653	2	4	796	1	0	0	0	0	0	0	0	1	12831	489	17	2		2	PTGER4	5	40681653	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2246356	40681653	140233607	26	58438											
ITGA2	3673	broad.mit.edu	37	chr5	52355772	52355772	+	Silent	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	attgtccagaagacatctcaTggccatttgatctttcctaa	11	14	6	10	0	2	3	1	1	2	2	5	3	4	3	3	1	0	0	3	1	2	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:52355772T>C	ENST00000296585.5	+	11	1385	c.1242T>C	c.(1240-1242)caT>caC	p.H414H		NM_002203.3	NP_002194.2	P17301	ITA2_HUMAN	integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)	414					axon guidance|blood coagulation|cell-matrix adhesion|integrin-mediated signaling pathway|interspecies interaction between organisms|organ morphogenesis	integrin complex	collagen binding|identical protein binding|receptor activity			breast(3)|central_nervous_system(2)|endometrium(5)|kidney(3)|large_intestine(8)|liver(1)|lung(18)|pancreas(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	47		Lung NSC(810;3.11e-05)|Breast(144;0.014)|Prostate(461;0.0181)				AGACATCTCATGGCCATTTGA	0.398													C	52355772	T	C	52355772	2	2	796	1	0	0	0	0	0	0	0	1	7933	1461	51	3		3	ITGA2	5	52355772	Silent	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	11674119	52355772	128559488	27	58439											
BTNL3	10917	broad.mit.edu	37	chr5	180432371	180432371	+	Silent	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ccagagacggctcacccgaaGctctgcgtttctgatctgaa	9	9	10	13	3	4	3	1	2	3	1	4	5	4	3	2	1	2	3	2	1	2	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr5:180432371G>A	ENST00000342868.6	+	8	1084	c.900G>A	c.(898-900)aaG>aaA	p.K300K		NM_197975.2	NP_932079.1	Q6UXE8	BTNL3_HUMAN	butyrophilin-like 3	300	B30.2/SPRY.				lipid metabolic process	integral to membrane				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(1)|lung(10)|prostate(2)|skin(1)	25	all_cancers(89;3.37e-05)|all_epithelial(37;3.77e-06)|Renal(175;0.000159)|Lung NSC(126;0.00211)|all_lung(126;0.00371)|Breast(19;0.114)	all_cancers(40;0.00336)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)|all_lung(500;0.248)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000272)			CTCACCCGAAGCTCTGCGTTT	0.532													A	180432371	G	A	180432371	2	1	796	1	0	0	0	0	0	0	0	1	1576	962	34	2		2	BTNL3	5	180432371	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	128076599	180432371	482889	28	58440											
HIST1H2AE	3012	broad.mit.edu	37	chr6	26217213	26217213	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ggaagccactatgtctggacGtggaaagcaaggcggcaaag	13	5	15	8	2	1	0	0	0	1	0	1	3	1	3	1	5	2	2	1	5	5	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:26217213G>T	ENST00000303910.2	+	1	49	c.11G>T	c.(10-12)cGt>cTt	p.R4L		NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	4					nucleosome assembly	nucleosome|nucleus	DNA binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				ATGTCTGGACGTGGAAAGCAA	0.493													T	26217213	G	T	26217213	3	4	796	1	0	0	0	0	1	0	0	0	7187	1145	40	4	13	4	HIST1H2AE	6	26217213	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		26217213	144897854	29	58441											
COL9A1	1297	broad.mit.edu	37	chr6	71004030	71004030	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	caatcatgatcttatgccacTgggaatcaaacaaggaggac	15	8	9	9	0	3	1	2	1	1	0	3	4	3	4	1	3	2	0	1	3	5	1	rs28483918		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:71004030T>A	ENST00000357250.6	-	5	694	c.536A>T	c.(535-537)cAg>cTg	p.Q179L	COL9A1_ENST00000370496.3_Missense_Mutation_p.Q179L	NM_001851.4	NP_001842.3	P20849	CO9A1_HUMAN	collagen, type IX, alpha 1	179	Nonhelical region (NC4).|TSP N-terminal.				axon guidance|cell adhesion|organ morphogenesis	collagen type IX	metal ion binding			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(44)|ovary(5)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)	80						CTTATGCCACTGGGAATCAAA	0.418													A	71004030	T	A	71004030	3	1	796	1	0	0	0	0	1	0	0	0	3738	1580	55	5	2441	5	COL9A1	6	71004030	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	44786817	71004030	100111037	30	58442											
BCKDHB	594	broad.mit.edu	37	chr6	81053471	81053471	+	Missense_Mutation	SNP	C	C	G	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	1	0	0	0	0	0	0	0	0	0	tttttgaaccattctacatcCcagacaaatggaagtgttat	13	14	6	8	0	1	2	0	1	1	1	2	3	2	3	2	1	2	1	2	1	5	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:81053471C>G	ENST00000320393.6	+	10	1176	c.1129C>G	c.(1129-1131)Cca>Gca	p.P377A	BCKDHB_ENST00000356489.5_Missense_Mutation_p.P377A|BCKDHB_ENST00000545529.1_3'UTR	NM_183050.2	NP_898871.1	P21953	ODBB_HUMAN	branched chain keto acid dehydrogenase E1, beta polypeptide	377					branched chain family amino acid catabolic process	mitochondrial alpha-ketoglutarate dehydrogenase complex	3-methyl-2-oxobutanoate dehydrogenase (2-methylpropanoyl-transferring) activity|carboxy-lyase activity|protein binding			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|upper_aerodigestive_tract(1)	15		all_cancers(76;1.38e-05)|Acute lymphoblastic leukemia(125;1.15e-05)|all_hematologic(105;0.00118)|all_epithelial(107;0.0149)		BRCA - Breast invasive adenocarcinoma(397;0.0291)		ATTCTACATCCCAGACAAATG	0.408													G	81053471	C	G	81053471	3	3	796	1	0	0	0	0	1	0	0	0	1365	623	22	4	1167	4	BCKDHB	6	81053471	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	10049441	81053471	90061596	31	58443											
NR2E1	7101	broad.mit.edu	37	chr6	108492701	108492701	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ctgcaaagtgtgtggcgaccGcagctcggggaagcactacg	9	6	15	11	4	0	0	0	0	0	0	1	2	0	1	1	3	4	4	1	3	3	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:108492701G>A	ENST00000368986.4	+	2	773	c.65G>A	c.(64-66)cGc>cAc	p.R22H	NR2E1_ENST00000368983.3_Missense_Mutation_p.R59H	NM_003269.3	NP_003260.1	Q9Y466	NR2E1_HUMAN	nuclear receptor subfamily 2, group E, member 1	22					regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor	nucleoplasm	sequence-specific DNA binding|steroid hormone receptor activity|zinc ion binding			central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(4)|liver(1)|lung(16)|prostate(1)|skin(3)	30		all_cancers(87;8.13e-05)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00866)|Colorectal(196;0.0637)		BRCA - Breast invasive adenocarcinoma(108;0.013)|Epithelial(106;0.0521)|all cancers(137;0.068)|OV - Ovarian serous cystadenocarcinoma(136;0.0689)		TGTGGCGACCGCAGCTCGGGG	0.572													A	108492701	G	A	108492701	3	1	796	1	0	0	0	0	1	0	0	0	10701	1087	38	1	71	1	NR2E1	6	108492701	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	27439230	108492701	62622366	32	58444											
GPRC6A	222545	broad.mit.edu	37	chr6	117130560	117130560	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	acctatgacagccttaactcTtggcatgtagctggaatagt	11	12	9	9	0	1	1	0	1	1	0	1	2	1	2	2	2	3	3	2	2	5	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr6:117130560T>C	ENST00000310357.3	-	2	436	c.415A>G	c.(415-417)Aga>Gga	p.R139G	GPRC6A_ENST00000368549.3_Missense_Mutation_p.R139G|GPRC6A_ENST00000530250.1_Missense_Mutation_p.R139G	NM_148963.2	NP_683766.2	Q5T6X5	GPC6A_HUMAN	G protein-coupled receptor, family C, group 6, member A	139					response to amino acid stimulus		G-protein coupled receptor activity			autonomic_ganglia(1)|breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(8)|liver(1)|lung(24)|ovary(5)|pancreas(1)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)	65		all_cancers(87;0.0314)|all_epithelial(87;0.0216)|Colorectal(196;0.234)		GBM - Glioblastoma multiforme(226;0.0265)|all cancers(137;0.0554)|OV - Ovarian serous cystadenocarcinoma(136;0.07)		GCCTTAACTCTTGGCATGTAG	0.448													C	117130560	T	C	117130560	3	2	796	1	0	0	0	0	1	0	0	0	6783	1617	56	3	2385	3	GPRC6A	6	117130560	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	8637859	117130560	53984507	33	58445											
NPSR1	387129	broad.mit.edu	37	chr7	34888182	34888182	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	cacccaggagcgtttctatgCctctgtgatcattcagaacc	9	11	8	13	1	4	2	2	1	2	1	4	3	4	3	3	1	3	1	3	1	2	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:34888182C>A	ENST00000360581.1	+	8	1060	c.932C>A	c.(931-933)gCc>gAc	p.A311D	NPSR1_ENST00000531252.1_Missense_Mutation_p.A300D|NPSR1_ENST00000381542.1_Missense_Mutation_p.A245D|NPSR1_ENST00000359791.1_Missense_Mutation_p.A311D|NPSR1_ENST00000381539.3_Missense_Mutation_p.A311D	NM_207172.1	NP_997055.1	Q6W5P4	NPSR1_HUMAN	neuropeptide S receptor 1	311						cytoplasm|integral to membrane|plasma membrane	vasopressin receptor activity			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(14)|pancreas(1)|skin(7)	31					Halothane(DB01159)	CGTTTCTATGCCTCTGTGATC	0.498													A	34888182	C	A	34888182	3	1	796	1	0	0	0	0	1	0	0	0	10676	739	26	4	962	4	NPSR1	7	34888182	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		34888182	124250481	34	58446											
MDFIC	29969	broad.mit.edu	37	chr7	114619720	114619720	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	taatcgcaaactttcagcacCtgtttctcaaaaaatgcata	15	12	4	10	1	2	0	2	0	1	0	4	0	2	0	1	0	3	4	1	0	6	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:114619720C>A	ENST00000393486.1	+	4	967	c.377C>A	c.(376-378)cCt>cAt	p.P126H	MDFIC_ENST00000257724.3_Missense_Mutation_p.P235H	NM_001166345.1|NM_199072.4	NP_001159817.1|NP_951038.1	Q9P1T7	MDFIC_HUMAN	MyoD family inhibitor domain containing	126					activation of JUN kinase activity|interspecies interaction between organisms|negative regulation of protein import into nucleus|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|regulation of Wnt receptor signaling pathway|transcription, DNA-dependent	cytoplasm|nucleolus|nucleus	cyclin binding|Tat protein binding			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)	8						CTTTCAGCACCTGTTTCTCAA	0.423													A	114619720	C	A	114619720	3	1	796	1	0	0	0	0	1	0	0	0	9480	681	24	4	760	4	MDFIC	7	114619720	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	79731538	114619720	44518943	35	58447											
TAS2R16	50833	broad.mit.edu	37	chr7	122635208	122635208	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	agttacagtgctgtttcttgGtagatgctccatggtgagta	8	15	12	6	0	1	2	0	1	1	1	2	2	2	2	1	2	3	6	1	2	3	5	rs28371576	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:122635208G>T	ENST00000249284.2	-	1	546	c.481C>A	c.(481-483)Cca>Aca	p.P161T		NM_016945.2	NP_058641.1	Q9NYV7	T2R16_HUMAN	taste receptor, type 2, member 16	161					detection of chemical stimulus involved in sensory perception of bitter taste	endoplasmic reticulum|external side of plasma membrane|trans-Golgi network	bitter taste receptor activity|protein binding			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(18)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						CTGTTTCTTGGTAGATGCTCC	0.393													T	122635208	G	T	122635208	3	4	796	1	0	0	0	0	1	0	0	0	15666	1261	44	4	398	4	TAS2R16	7	122635208	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	8015488	122635208	36503455	36	58448											
FLNC	2318	broad.mit.edu	37	chr7	128493627	128493627	+	Frame_Shift_Del	DEL	C	C	-																															tcacctactgccccaccgagCccggcacctacatcatcaac																										TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr7:128493627delC	ENST00000325888.8	+	38	6574	c.6313delC	c.(6313-6315)cccfs	p.P2105fs	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Frame_Shift_Del_p.P2072fs	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	2105					cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CCCCACCGAGCCCGGCACCTA	0.592													-	128493627	C	-	128493627	7	5	796	1	0	1	0	1	0	0	0	0	5984	739	26	0	6463	0	FLNC	7	128493627	Frame_Shift_Del	DEL	C	TCGA-WY-A85E-01A-11D-A36O-08	5858419	128493627	30645036	37	58449											
NEFM	4741	broad.mit.edu	37	chr8	24775141	24775141	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	1	0	0	0	1	0	1	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gaaaagaaagtggaggaaaaGagtgaggaagtggctaccaa	19	4	15	3	0	0	3	0	1	0	2	0	7	0	6	1	4	1	1	1	4	8	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:24775141G>T	ENST00000221166.5	+	3	2555	c.1773G>T	c.(1771-1773)aaG>aaT	p.K591N	NEFM_ENST00000518131.1_Intron|NEFM_ENST00000433454.2_Missense_Mutation_p.K215N|NEFM_ENST00000437366.2_Missense_Mutation_p.K591N|NEFM_ENST00000521540.1_Intron			P07197	NFM_HUMAN	neurofilament, medium polypeptide	591	Tail.					neurofilament	protein binding|structural constituent of cytoskeleton			breast(3)|endometrium(7)|kidney(4)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|urinary_tract(1)	36		Prostate(55;0.157)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0197)|Epithelial(17;2.44e-10)|Colorectal(74;0.0108)|COAD - Colon adenocarcinoma(73;0.0375)		tggaggaaaagagtgaggaag	0.488													T	24775141	G	T	24775141	3	4	796	1	0	0	0	0	1	0	0	0	10392	933	33	4	1783	4	NEFM	8	24775141	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		24775141	121588881	38	58450											
TACC1	6867	broad.mit.edu	37	chr8	38646271	38646271	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgaagctgaaaccccgatcCgatcacctttcaaggagtcc	11	8	8	14	2	2	2	2	2	0	0	4	5	4	3	5	1	2	1	5	1	3	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:38646271C>T	ENST00000379931.3	+	2	590	c.211C>T	c.(211-213)Cga>Tga	p.R71*	TACC1_ENST00000520340.1_Nonsense_Mutation_p.R35*|TACC1_ENST00000443286.2_Nonsense_Mutation_p.R87*|TACC1_ENST00000317827.4_Nonsense_Mutation_p.R71*|TACC1_ENST00000520973.1_5'UTR|TACC1_ENST00000348567.4_Intron|TACC1_ENST00000519416.1_5'UTR|TACC1_ENST00000518415.1_Nonsense_Mutation_p.R26*|TACC1_ENST00000276520.8_Intron|TACC1_ENST00000522752.1_Intron|TACC1_ENST00000330691.6_Intron|TACC1_ENST00000520615.1_5'UTR			O75410	TACC1_HUMAN	transforming, acidic coiled-coil containing protein 1	71					cell cycle|cell division	intermediate filament cytoskeleton|microtubule organizing center|nucleus	protein binding			breast(4)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(3)	17		all_lung(54;0.00292)|Lung NSC(58;0.0115)|Hepatocellular(245;0.065)	LUSC - Lung squamous cell carcinoma(45;1.7e-09)|COAD - Colon adenocarcinoma(9;0.235)			AACCCCGATCCGATCACCTTT	0.463													T	38646271	C	T	38646271	4	4	796	1	0	0	0	0	0	1	0	0	15598	644	23	1	217	1	TACC1	8	38646271	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	13871130	38646271	107717751	39	58451											
TRPA1	8989	broad.mit.edu	37	chr8	72970013	72970013	+	Silent	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcagttgctaatataagtggAgagcgtccttcagaatcgat	12	11	11	7	2	1	2	1	0	0	2	3	4	2	2	1	1	2	3	1	1	4	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:72970013A>G	ENST00000262209.4	-	9	1239	c.1032T>C	c.(1030-1032)tcT>tcC	p.S344S		NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	344						integral to plasma membrane				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	ATATAAGTGGAGAGCGTCCTT	0.353													G	72970013	A	G	72970013	2	3	796	1	0	0	0	0	0	0	0	1	16678	291	11	3		3	TRPA1	8	72970013	Silent	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	34323742	72970013	73394009	40	58452											
ESRP1	54845	broad.mit.edu	37	chr8	95683729	95683729	+	Missense_Mutation	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	tcattccacttccaacccctCccattattccagtactacct	9	13	1	18	0	1	0	1	0	0	0	5	0	5	0	7	0	3	1	7	0	4	6			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr8:95683729C>A	ENST00000433389.2	+	11	1472	c.1282C>A	c.(1282-1284)Ccc>Acc	p.P428T	ESRP1_ENST00000358397.5_Missense_Mutation_p.P428T|ESRP1_ENST00000454170.2_Missense_Mutation_p.P428T|ESRP1_ENST00000423620.2_Missense_Mutation_p.P428T	NM_001034915.2|NM_017697.3	NP_001030087.2|NP_060167.2	Q6NXG1	ESRP1_HUMAN	epithelial splicing regulatory protein 1	428					mRNA processing|regulation of RNA splicing|RNA splicing	nucleus|plasma membrane	mRNA binding|nucleotide binding		ESRP1/RAF1(4)	NS(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(2)|lung(6)|prostate(1)|urinary_tract(2)	20						TCCAACCCCTCCCATTATTCC	0.478													A	95683729	C	A	95683729	3	1	796	1	0	0	0	0	1	0	0	0	5299	855	30	4	1324	4	ESRP1	8	95683729	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	22713716	95683729	50680293	41	58453											
GABBR2	9568	broad.mit.edu	37	chr9	101056066	101056066	+	Splice_Site	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tctcaaggagaaggtacttaCtgttctggagagtttatatc	11	14	10	6	0	2	2	1	0	2	2	4	4	2	2	0	3	2	3	0	3	6	6			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:101056066C>A	ENST00000259455.2	-	18	3120		c.e18+1			NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2						negative regulation of adenylate cyclase activity|synaptic transmission	cell junction|integral to plasma membrane|postsynaptic membrane	G-protein coupled receptor activity|GABA-B receptor activity		NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	AAGGTACTTACTGTTCTGGAG	0.378													A	101056066	C	A	101056066	5	1	796	1	0	0	0	0	0	0	1	0	6208	579	20	4	172	4	GABBR2	9	101056066	Splice_Site	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		101056066	40157365	42	58454											
C9orf116	138162	broad.mit.edu	37	chr9	138391685	138391685	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctccgcgcacgctctggggcAttcctcagccattgtgcctg	4	10	11	16	3	2	0	1	0	1	0	4	0	4	0	4	2	2	3	4	2	0	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr9:138391685A>G	ENST00000371789.3	-	1	679	c.13T>C	c.(13-15)Tgc>Cgc	p.C5R	C9orf116_ENST00000371791.1_Missense_Mutation_p.C5R|C9orf116_ENST00000429260.2_Missense_Mutation_p.C5R			Q5BN46	CI116_HUMAN	chromosome 9 open reading frame 116	5															OV - Ovarian serous cystadenocarcinoma(145;7.39e-08)|Epithelial(140;5.19e-07)|all cancers(34;1.04e-05)		GCTCTGGGGCATTCCTCAGCC	0.706													G	138391685	A	G	138391685	3	3	796	1	0	0	0	0	1	0	0	0	2476	217	8	3	409	3	C9orf116	9	138391685	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	37335619	138391685	2821746	43	58455											
ANXA11	311	broad.mit.edu	37	chr10	81921729	81921729	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	ggctccgggagcacagaaccGcattgaacttggactcgtct	9	8	12	12	3	1	2	0	1	1	1	3	4	2	4	2	3	3	3	2	3	2	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:81921729G>A	ENST00000438331.1	-	13	1624	c.1142C>T	c.(1141-1143)gCg>gTg	p.A381V	ANXA11_ENST00000360615.4_Missense_Mutation_p.A381V|ANXA11_ENST00000422982.3_Missense_Mutation_p.A381V|ANXA11_ENST00000535999.1_Missense_Mutation_p.A381V|ANXA11_ENST00000372231.3_Missense_Mutation_p.A381V|ANXA11_ENST00000537102.1_Missense_Mutation_p.A348V|ANXA11_ENST00000265447.4_Missense_Mutation_p.A381V	NM_145869.1	NP_665876.1	P50995	ANX11_HUMAN	annexin A11	381					cell cycle|cytokinesis, completion of separation|phagocytosis|response to calcium ion	azurophil granule|melanosome|midbody|nuclear envelope|nucleoplasm|phagocytic vesicle|specific granule|spindle	calcium-dependent phospholipid binding|calcium-dependent protein binding|S100 alpha binding			endometrium(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(2)|urinary_tract(1)	17	Prostate(51;0.00985)|all_epithelial(25;0.0951)		Colorectal(32;0.109)			GCACAGAACCGCATTGAACTT	0.627											OREG0020322	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	A	81921729	G	A	81921729	3	1	796	1	0	0	0	0	1	0	0	0	716	1087	38	1	395	1	ANXA11	10	81921729	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		81921729	53613018	44	58456											
DYDC2	84332	broad.mit.edu	37	chr10	82122275	82122275	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	cagaggtggcgaaggttcggCccagtgacccaatagaatac	12	6	13	10	2	0	3	0	1	0	2	1	4	0	3	2	4	1	1	2	4	5	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:82122275C>T	ENST00000372199.1	+	4	674	c.76C>T	c.(76-78)Ccc>Tcc	p.P26S	DYDC2_ENST00000372198.1_Missense_Mutation_p.P40S|DYDC2_ENST00000256039.2_Missense_Mutation_p.P26S|DYDC2_ENST00000372197.1_Missense_Mutation_p.P26S|DYDC2_ENST00000444807.2_Missense_Mutation_p.P26S			Q96IM9	DYDC2_HUMAN	DPY30 domain containing 2	26							protein binding			breast(1)|large_intestine(3)|lung(6)|skin(1)	11			Colorectal(32;0.229)			GAAGGTTCGGCCCAGTGACCC	0.498													T	82122275	C	T	82122275	3	4	796	1	0	0	0	0	1	0	0	0	4878	739	26	2	78	2	DYDC2	10	82122275	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	200546	82122275	53412472	45	58457											
HPSE2	60495	broad.mit.edu	37	chr10	100453669	100453669	+	Missense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	atacctactgttgccaggtaActgcatctactgtacttcct	9	14	6	12	0	1	0	0	0	1	0	2	0	2	0	3	1	7	4	3	1	5	7			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr10:100453669A>T	ENST00000370552.3	-	6	1051	c.992T>A	c.(991-993)gTt>gAt	p.V331D	HPSE2_ENST00000404542.1_Missense_Mutation_p.V219D|HPSE2_ENST00000370549.1_Missense_Mutation_p.V273D|HPSE2_ENST00000370546.1_Missense_Mutation_p.V331D	NM_021828.4	NP_068600.4	Q8WWQ2	HPSE2_HUMAN	heparanase 2	331					carbohydrate metabolic process	intracellular|membrane	cation binding|heparanase activity			NS(1)|breast(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	40				Epithelial(162;1.8e-09)|all cancers(201;4.72e-07)		TTGCCAGGTAACTGCATCTAC	0.343													T	100453669	A	T	100453669	3	4	796	1	0	0	0	0	1	0	0	0	7400	43	2	5	852	5	HPSE2	10	100453669	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	18331394	100453669	35081078	46	58458											
OR51M1	390059	broad.mit.edu	37	chr11	5411068	5411068	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ccctctgaggtattcggtcaTtatcactggccagcaagtgg	8	11	11	11	1	3	1	2	1	1	0	4	1	3	1	2	4	1	2	2	4	3	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5411068T>C	ENST00000328611.3	+	1	462	c.440T>C	c.(439-441)aTt>aCt	p.I147T	AC104389.28_ENST00000415970.1_RNA|HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	NM_001004756.2	NP_001004756.2	B2RNI9	B2RNI9_HUMAN	olfactory receptor, family 51, subfamily M, member 1	147						integral to membrane	olfactory receptor activity			NS(3)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(16)|upper_aerodigestive_tract(1)	30		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.0675)		Epithelial(150;1.98e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TATTCGGTCATTATCACTGGC	0.527													C	5411068	T	C	5411068	3	2	796	1	0	0	0	0	1	0	0	0	11179	1493	52	3	442	3	OR51M1	11	5411068	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		5411068	129595448	47	58459											
TRIM22	10346	broad.mit.edu	37	chr11	5729464	5729464	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	agaaactaaagagtgtattcCgagtaccagatctgagtggg	14	9	12	6	1	1	4	0	1	1	3	2	5	2	4	2	1	2	2	2	1	5	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:5729464C>T	ENST00000379965.3	+	6	1112	c.835C>T	c.(835-837)Cga>Tga	p.R279*	TRIM5_ENST00000380027.1_Intron	NM_001199573.1|NM_006074.4	NP_001186502.1|NP_006065.2	Q8IYM9	TRI22_HUMAN	tripartite motif containing 22	279					immune response|interspecies interaction between organisms|protein trimerization|response to virus	Cajal body|Golgi apparatus|nuclear speck	ligase activity|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding			kidney(3)|large_intestine(8)|lung(9)|prostate(1)|stomach(2)	23		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)		Epithelial(150;7.54e-09)|BRCA - Breast invasive adenocarcinoma(625;0.14)		GAGTGTATTCCGAGTACCAGA	0.418													T	5729464	C	T	5729464	4	4	796	1	0	0	0	0	0	1	0	0	16597	644	23	1	853	1	TRIM22	11	5729464	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	318396	5729464	129277052	48	58460											
OR9Q2	219957	broad.mit.edu	37	chr11	57958704	57958704	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcgcctcccacctcactgccGtcgctcttttctttggcacc	3	12	7	19	3	3	0	1	0	2	0	5	0	4	0	5	1	1	2	5	1	0	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:57958704G>A	ENST00000311591.3	+	1	799	c.742G>A	c.(742-744)Gtc>Atc	p.V248I		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	248					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	p.V248I(1)		breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				CCTCACTGCCGTCGCTCTTTT	0.577													A	57958704	G	A	57958704	3	1	796	1	0	0	0	0	1	0	0	0	11332	1145	40	1	744	1	OR9Q2	11	57958704	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	52229240	57958704	77047812	49	58461											
TMEM134	80194	broad.mit.edu	37	chr11	67234993	67234993	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	tgcagcaggtgttgtaggagCgctgggtgctgctgctgatg	5	11	18	7	1	0	1	0	1	0	0	0	2	0	2	0	3	6	8	0	3	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:67234993C>T	ENST00000393877.3	-	3	365	c.308G>A	c.(307-309)cGc>cAc	p.R103H	TMEM134_ENST00000308022.2_Missense_Mutation_p.R103H|TMEM134_ENST00000541059.1_5'UTR|TMEM134_ENST00000452789.2_Missense_Mutation_p.R94H	NM_001078650.1	NP_001072118.1	Q9H6X4	TM134_HUMAN	transmembrane protein 134	103						integral to membrane				endometrium(1)|lung(1)	2						GTTGTAGGAGCGCTGGGTGCT	0.682													T	67234993	C	T	67234993	3	4	796	1	0	0	0	0	1	0	0	0	16150	768	27	1	299	1	TMEM134	11	67234993	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	9276289	67234993	67771523	50	58462											
CHRDL2	25884	broad.mit.edu	37	chr11	74441896	74441896	+	Frame_Shift_Del	DEL	C	C	-																															ggaaccagagcagcgcgagtCccagcaaggaggagaggacc																										TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr11:74441896delC	ENST00000376332.3	-	1	534	c.38delG	c.(37-39)ggafs	p.G13fs	CHRDL2_ENST00000263671.5_Frame_Shift_Del_p.G13fs|CHRDL2_ENST00000534159.1_5'UTR	NM_001278473.1	NP_001265402.1	Q6WN34	CRDL2_HUMAN	chordin-like 2	13					cartilage development|cell differentiation|ossification	extracellular region|mitochondrion				endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|prostate(1)|skin(2)	15	Hepatocellular(1;0.098)					CAGCGCGAGTCCCAGCAAGGA	0.662													-	74441896	C	-	74441896	7	5	796	1	0	1	0	1	0	0	0	0	3404	855	30	0	1365	0	CHRDL2	11	74441896	Frame_Shift_Del	DEL	C	TCGA-WY-A85E-01A-11D-A36O-08	7206903	74441896	60564620	51	58463											
EFCAB4B	84766	broad.mit.edu	37	chr12	3806033	3806033	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	catgactagctggcccgacgTttgctcctgagtctccttct	5	13	9	14	2	2	2	0	2	2	0	4	3	3	2	3	1	2	3	3	1	1	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:3806033T>C	ENST00000440314.2	-	4	606	c.133A>G	c.(133-135)Acg>Gcg	p.T45A	EFCAB4B_ENST00000444507.1_Missense_Mutation_p.T45A|EFCAB4B_ENST00000252322.1_Missense_Mutation_p.T45A	NM_001144958.1	NP_001138430.1	Q9BSW2	EFC4B_HUMAN	EF-hand calcium binding domain 4B	45					activation of store-operated calcium channel activity|store-operated calcium entry	cytoplasm	calcium ion binding|protein binding			breast(1)|endometrium(3)|large_intestine(2)|liver(1)|lung(12)|ovary(1)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00287)|COAD - Colon adenocarcinoma(12;0.0264)			TGGCCCGACGTTTGCTCCTGA	0.592													C	3806033	T	C	3806033	3	2	796	1	0	0	0	0	1	0	0	0	4976	1725	60	3	2322	3	EFCAB4B	12	3806033	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		3806033	130045862	52	58464											
SLC6A15	55117	broad.mit.edu	37	chr12	85257323	85257323	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	ggagaaatatatttccacatAtagtagtaatatctgctggg	14	13	9	5	0	1	1	0	0	1	1	2	2	2	1	1	2	1	3	1	2	8	8			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr12:85257323A>T	ENST00000266682.5	-	11	2254	c.1713T>A	c.(1711-1713)taT>taA	p.Y571*	SLC6A15_ENST00000552192.1_Nonsense_Mutation_p.Y464*|SLC6A15_ENST00000309283.7_Nonsense_Mutation_p.Y279*	NM_182767.5	NP_877499.1	Q9H2J7	S6A15_HUMAN	solute carrier family 6 (neutral amino acid transporter), member 15	571					cellular nitrogen compound metabolic process|leucine transport|proline transport	integral to plasma membrane	amino acid transmembrane transporter activity|neurotransmitter:sodium symporter activity			kidney(1)|large_intestine(18)|lung(15)|ovary(1)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	44						ATTTCCACATATAGTAGTAAT	0.323													T	85257323	A	T	85257323	4	4	796	1	0	0	0	0	0	1	0	0	14772	456	16	5	487	5	SLC6A15	12	85257323	Nonsense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	81451290	85257323	48594572	53	58465											
TSC22D1	8848	broad.mit.edu	37	chr13	45150204	45150204	+	Frame_Shift_Del	DEL	G	G	-																															ggcggtggactcaggcggctGgtgcattgtgttgggtaccg																										TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr13:45150204delG	ENST00000458659.2	-	1	497	c.7delC	c.(7-9)cagfs	p.Q3fs	TSC22D1_ENST00000501704.2_Frame_Shift_Del_p.Q3fs	NM_183422.3	NP_904358.2	Q15714	T22D1_HUMAN	TSC22 domain family, member 1	3					transcription from RNA polymerase II promoter	cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity			breast(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_hematologic(4;8.74e-08)|Acute lymphoblastic leukemia(4;1.78e-07)|Lung NSC(96;2.21e-05)|Breast(139;0.000625)|Prostate(109;0.000947)|Hepatocellular(98;0.0202)|Lung SC(185;0.0262)		GBM - Glioblastoma multiforme(144;0.000522)|BRCA - Breast invasive adenocarcinoma(63;0.118)		TCAGGCGGCTGGTGCATTGTG	0.627													-	45150204	G	-	45150204	7	5	796	1	0	1	0	1	0	0	0	0	16708	1357	47	0	3355	0	TSC22D1	13	45150204	Frame_Shift_Del	DEL	G	TCGA-WY-A85E-01A-11D-A36O-08		45150204	70019674	54	58466											
OR6S1	341799	broad.mit.edu	37	chr14	21109228	21109228	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gcaaggaagatacaatgacgAgggaggccaggacaaagtca	17	3	14	7	1	1	2	1	1	0	1	1	6	1	5	1	4	1	1	1	4	5	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:21109228A>G	ENST00000320704.3	-	1	622	c.623T>C	c.(622-624)cTc>cCc	p.L208P		NM_001001968.1	NP_001001968.1	Q8NH40	OR6S1_HUMAN	olfactory receptor, family 6, subfamily S, member 1	208					sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity			kidney(1)|large_intestine(3)|lung(13)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23	all_cancers(95;0.00304)		Epithelial(56;1.23e-06)|all cancers(55;1.01e-05)	GBM - Glioblastoma multiforme(265;0.0135)		TACAATGACGAGGGAGGCCAG	0.577													G	21109228	A	G	21109228	3	3	796	1	0	0	0	0	1	0	0	0	11285	304	11	3	376	3	OR6S1	14	21109228	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		21109228	86240312	55	58467											
CPNE6	9362	broad.mit.edu	37	chr14	24542245	24542245	+	Silent	SNP	C	C	A	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	cctgccatggcctcctggacCgggacacactcaccaaaccc	9	5	8	19	1	1	0	1	0	0	0	2	2	2	2	7	3	2	0	7	3	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr14:24542245C>A	ENST00000397016.2	+	3	411	c.100C>A	c.(100-102)Cgg>Agg	p.R34R	CPNE6_ENST00000560092.1_Intron|CPNE6_ENST00000537691.1_Silent_p.R89R|CPNE6_ENST00000216775.2_Silent_p.R34R	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	34	C2 1.				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)		CCTCCTGGACCGGGACACACT	0.622													A	24542245	C	A	24542245	2	1	796	1	0	0	0	0	0	0	0	1	3847	643	23	4		4	CPNE6	14	24542245	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3433017	24542245	82807295	56	58468											
PDCD7	10081	broad.mit.edu	37	chr15	65425256	65425256	+	Silent	SNP	C	C	T																															gccgctgctctcacccgcttCttctcctccacctcctgcac																										TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425256C>T	ENST00000204549.4	-	1	918	c.864G>A	c.(862-864)aaG>aaA	p.K288K		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	288					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						TCACCCGCTTCTTCTCCTCCA	0.637													T	65425256	C	T	65425256	2	4	796	1	0	0	0	0	0	0	0	1	11701	912	32	2		2	PDCD7	15	65425256	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		65425256	37106136	57	58469	182	2									
PDCD7	10081	broad.mit.edu	37	chr15	65425262	65425262	+	Missense_Mutation	SNP	C	C	G																															gctctcacccgcttcttctcCtccacctcctgcacacactt																										TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:65425262C>G	ENST00000204549.4	-	1	912	c.858G>C	c.(856-858)gaG>gaC	p.E286D		NM_005707.1	NP_005698.1	Q8N8D1	PDCD7_HUMAN	programmed cell death 7	286					apoptosis|induction of apoptosis|response to glucocorticoid stimulus	U12-type spliceosomal complex				endometrium(4)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	7						GCTTCTTCTCCTCCACCTCCT	0.652													G	65425262	C	G	65425262	3	3	796	1	0	0	0	0	1	0	0	0	11701	680	24	4	619	4	PDCD7	15	65425262	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	6	65425262	37106130	58	58470	182	2									
ACSBG1	23205	broad.mit.edu	37	chr15	78474351	78474351	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	caaagcaaacctgggcccccCactggatgcctgtccacagg	10	5	10	16	0	0	0	0	0	0	0	1	1	1	1	6	3	3	1	6	3	2	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:78474351C>T	ENST00000258873.4	-	8	1236	c.1031G>A	c.(1030-1032)tGg>tAg	p.W344*	ACSBG1_ENST00000541759.1_Nonsense_Mutation_p.W102*|ACSBG1_ENST00000560817.1_Nonsense_Mutation_p.W102*	NM_001199377.1|NM_015162.4	NP_001186306.1|NP_055977.3	Q96GR2	ACBG1_HUMAN	acyl-CoA synthetase bubblegum family member 1	344					long-chain fatty acid metabolic process|myelination|very long-chain fatty acid metabolic process	cytoplasmic membrane-bounded vesicle|endoplasmic reticulum|microsome	ATP binding|long-chain fatty acid-CoA ligase activity|very long-chain fatty acid-CoA ligase activity			endometrium(2)|kidney(2)|large_intestine(11)|liver(1)|lung(15)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)	37						CTGGGCCCCCCACTGGATGCC	0.627													T	78474351	C	T	78474351	4	4	796	1	0	0	0	0	0	1	0	0	173	595	21	2	1171	2	ACSBG1	15	78474351	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	13049089	78474351	24057041	59	58471											
ACAN	176	broad.mit.edu	37	chr15	89403664	89403664	+	Missense_Mutation	SNP	A	A	C	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	gctacactggcgagcactgtAacataggtaaggccctcatt	11	9	10	11	1	1	0	1	0	0	0	1	1	1	0	1	3	3	4	1	3	4	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr15:89403664A>C	ENST00000439576.2	+	13	7314	c.6940A>C	c.(6940-6942)Aac>Cac	p.N2314H	ACAN_ENST00000559004.1_Intron|ACAN_ENST00000352105.7_Intron|ACAN_ENST00000561243.1_Missense_Mutation_p.N2314H	NM_013227.3	NP_037359.3	E7EX88	E7EX88_HUMAN	aggrecan	2314					cell adhesion		hyaluronic acid binding|sugar binding			NS(1)|central_nervous_system(4)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(15)|liver(2)|lung(40)|ovary(2)|prostate(5)|skin(5)|stomach(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	93	Lung NSC(78;0.0392)|all_lung(78;0.077)		BRCA - Breast invasive adenocarcinoma(143;0.146)			CGAGCACTGTAACATAGGTAA	0.617													C	89403664	A	C	89403664	3	2	796	1	0	0	0	0	1	0	0	0	117	362	13	5	6986	5	ACAN	15	89403664	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	10929313	89403664	13127728	60	58472											
CLCN7	1186	broad.mit.edu	37	chr16	1498451	1498451	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacgccgaccttctcacgccGcctcaggcaggtcactggtg	6	7	12	16	4	3	0	3	0	1	0	4	2	3	0	4	3	0	1	4	3	0	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:1498451G>A	ENST00000382745.4	-	21	2523	c.1918C>T	c.(1918-1920)Cgg>Tgg	p.R640W	CLCN7_ENST00000448525.1_Missense_Mutation_p.R616W|CLCN7_ENST00000262318.8_Missense_Mutation_p.R616W	NM_001287.5	NP_001278.1	P51798	CLCN7_HUMAN	chloride channel, voltage-sensitive 7	640	CBS 1.					integral to membrane|lysosomal membrane	antiporter activity|ATP binding|voltage-gated chloride channel activity			breast(2)|central_nervous_system(3)|endometrium(3)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|skin(2)	24		Hepatocellular(780;0.0893)				TTCTCACGCCGCCTCAGGCAG	0.647													A	1498451	G	A	1498451	3	1	796	1	0	0	0	0	1	0	0	0	3499	1086	38	1	519	1	CLCN7	16	1498451	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08		1498451	88856302	61	58473											
ACSM5	54988	broad.mit.edu	37	chr16	20448432	20448432	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	cttttacatcacaggggaccGagctcgcatggacaaggatg	11	8	12	10	2	1	0	1	0	0	0	2	4	1	3	1	4	2	2	1	4	2	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:20448432G>A	ENST00000331849.4	+	11	1514	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_017888.2	NP_060358.2	Q6NUN0	ACSM5_HUMAN	acyl-CoA synthetase medium-chain family member 5	456					fatty acid metabolic process	mitochondrial matrix	ATP binding|butyrate-CoA ligase activity|GTP binding|metal ion binding	p.R456Q(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	51						ACAGGGGACCGAGCTCGCATG	0.483													A	20448432	G	A	20448432	3	1	796	1	0	0	0	0	1	0	0	0	187	1058	37	1	1405	1	ACSM5	16	20448432	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	18949981	20448432	69906321	62	58474											
DNAH3	55567	broad.mit.edu	37	chr16	21049090	21049090	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	aaccgctacatacctgaaacAgagggacatcttgcgctaag	14	7	9	11	2	1	2	0	1	1	1	1	3	1	3	2	1	5	2	2	1	5	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:21049090A>G	ENST00000261383.3	-	34	4942	c.4943T>C	c.(4942-4944)cTg>cCg	p.L1648P	DNAH3_ENST00000415178.1_Missense_Mutation_p.L1648P	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1648					ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		TACCTGAAACAGAGGGACATC	0.498													G	21049090	A	G	21049090	3	3	796	1	0	0	0	0	1	0	0	0	4642	188	7	3	7522	3	DNAH3	16	21049090	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	600658	21049090	69305663	63	58475											
MYLK3	91807	broad.mit.edu	37	chr16	46744669	46744669	+	Missense_Mutation	SNP	G	G	C	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	aattcatggtctctgcatctGtttcccctagaaatggggac	9	13	9	10	0	3	1	1	0	2	1	5	2	4	2	2	3	1	2	2	3	3	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:46744669G>C	ENST00000394809.4	-	11	2262	c.2147C>G	c.(2146-2148)aCa>aGa	p.T716R	MYLK3_ENST00000562104.1_5'UTR|MYLK3_ENST00000536476.1_Missense_Mutation_p.T375R	NM_182493.2	NP_872299.2	Q32MK0	MYLK3_HUMAN	myosin light chain kinase 3	716	Protein kinase.				cardiac myofibril assembly|cellular response to interleukin-1|positive regulation of sarcomere organization|regulation of vascular permeability involved in acute inflammatory response|sarcomere organization|sarcomerogenesis	cytosol	ATP binding|calmodulin-dependent protein kinase activity|myosin light chain kinase activity			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(7)|lung(11)|ovary(3)|prostate(3)|skin(5)|stomach(3)	37		all_cancers(37;0.00023)|all_epithelial(9;0.000543)|all_lung(18;0.00585)|Lung NSC(13;0.0496)|Breast(268;0.116)				CTCTGCATCTGTTTCCCCTAG	0.478													C	46744669	G	C	46744669	3	2	796	1	0	0	0	0	1	0	0	0	10134	1377	48	4	324	4	MYLK3	16	46744669	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	25695579	46744669	43610084	64	58476											
CRISPLD2	83716	broad.mit.edu	37	chr16	84888389	84888389	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	ggccggccctgctctgagtgCccacccagctatggaggcag	6	6	14	15	1	1	1	0	1	1	0	1	2	1	2	4	4	3	3	4	4	1	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr16:84888389C>T	ENST00000262424.5	+	6	887	c.663C>T	c.(661-663)tgC>tgT	p.C221C	CRISPLD2_ENST00000566431.1_3'UTR|CRISPLD2_ENST00000564567.1_Silent_p.C221C|CRISPLD2_ENST00000567845.1_Silent_p.C221C	NM_031476.3	NP_113664.1	Q9H0B8	CRLD2_HUMAN	cysteine-rich secretory protein LCCL domain containing 2	221						extracellular region|transport vesicle				endometrium(3)|large_intestine(5)|lung(8)|prostate(1)|stomach(1)	18						GCTCTGAGTGCCCACCCAGCT	0.532													T	84888389	C	T	84888389	2	4	796	1	0	0	0	0	0	0	0	1	3914	747	26	2		2	CRISPLD2	16	84888389	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	38143720	84888389	5466364	65	58477											
TP53	7157	broad.mit.edu	37	chr17	7578190	7578190	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	accagacctcaggcggctcaTagggcaccaccacactatgt	11	6	9	15	1	2	1	2	0	0	1	2	1	2	1	4	3	0	2	4	3	2	2	rs121912666		TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:7578190T>C	ENST00000420246.2	-	6	791	c.659A>G	c.(658-660)tAt>tGt	p.Y220C	TP53_ENST00000269305.4_Missense_Mutation_p.Y220C|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Missense_Mutation_p.Y220C|TP53_ENST00000455263.2_Missense_Mutation_p.Y220C|TP53_ENST00000445888.2_Missense_Mutation_p.Y220C|TP53_ENST00000413465.2_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	0.557		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)			C	7578190	T	C	7578190	3	2	796	1	0	0	0	0	1	0	0	0	16482	1406	49	3	635	3	TP53	17	7578190	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		7578190	73617020	66	58478											
WNT3	7473	broad.mit.edu	37	chr17	44851146	44851146	+	Silent	SNP	G	G	C	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	atgcccagcttcacgccctcGgccacgctgggcatgatctc	6	8	10	17	3	2	1	1	1	1	0	4	1	2	1	3	2	2	3	3	2	0	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:44851146G>C	ENST00000225512.5	-	2	372	c.210C>G	c.(208-210)gcC>gcG	p.A70A		NM_030753.4	NP_110380.1	P56703	WNT3_HUMAN	wingless-type MMTV integration site family, member 3	70					canonical Wnt receptor signaling pathway involved in mesenchymal stem cell differentiation|canonical Wnt receptor signaling pathway involved in osteoblast differentiation|cellular response to retinoic acid|dorsal/ventral axis specification|embryonic forelimb morphogenesis|embryonic hindlimb morphogenesis|embryonic pattern specification|head morphogenesis|hemopoietic stem cell proliferation|inner ear morphogenesis|limb bud formation|mammary gland epithelium development|mesoderm formation|midbrain-hindbrain boundary development|negative regulation of fat cell differentiation|positive regulation of cell proliferation|Spemann organizer formation at the anterior end of the primitive streak|Wnt receptor signaling pathway, calcium modulating pathway	early endosome|extracellular space|late endosome|membrane fraction|membrane raft|plasma membrane|proteinaceous extracellular matrix	frizzled binding|frizzled-2 binding|signal transducer activity			endometrium(2)|large_intestine(6)|lung(4)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(9;0.0257)			TCACGCCCTCGGCCACGCTGG	0.652													C	44851146	G	C	44851146	2	2	796	1	0	0	0	0	0	0	0	1	17490	1103	39	4		4	WNT3	17	44851146	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	37272956	44851146	36344064	67	58479											
HSF5	124535	broad.mit.edu	37	chr17	56565486	56565486	+	Silent	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	cccggcccgggcgggctgagCagctcggcctcgaagagcgg	5	3	18	15	6	0	2	0	1	0	1	2	3	0	2	3	5	3	3	3	5	1	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:56565486C>A	ENST00000323777.3	-	1	259	c.150G>T	c.(148-150)ctG>ctT	p.L50L		NM_001080439.1	NP_001073908.1	Q4G112	HSF5_HUMAN	heat shock transcription factor family member 5	50						nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	16	Medulloblastoma(34;0.127)|all_neural(34;0.237)					gcgggcTGAGCAGCTCGGCCT	0.726													A	56565486	C	A	56565486	2	1	796	1	0	0	0	0	0	0	0	1	7454	697	25	4		4	HSF5	17	56565486	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	11714340	56565486	24629724	68	58480											
YPEL2	388403	broad.mit.edu	37	chr17	57465703	57465703	+	Nonsense_Mutation	SNP	C	C	T	0	0	0	1	0	0	1	0	1	0	0	0	1	0	1	0	0	0	0	0	0	0	0	0	1	0	1	1	0	1	ttcagtcattccaaggaagtCaaggacgagcatacctcttt	12	11	8	10	1	4	0	3	0	1	0	5	3	5	2	2	2	2	1	2	2	4	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr17:57465703C>T	ENST00000312655.4	+	3	451	c.133C>T	c.(133-135)Caa>Taa	p.Q45*	YPEL2_ENST00000585166.1_Nonsense_Mutation_p.Q45*|YPEL2_ENST00000581865.1_3'UTR	NM_001005404.3	NP_001005404.1	Q96QA6	YPEL2_HUMAN	yippee-like 2 (Drosophila)	45						nucleolus				endometrium(1)|large_intestine(1)|lung(3)	5	all_neural(34;0.0837)|Medulloblastoma(34;0.0922)					CCAAGGAAGTCAAGGACGAGC	0.433													T	57465703	C	T	57465703	4	4	796	1	0	0	0	0	0	1	0	0	17592	827	29	2	139	2	YPEL2	17	57465703	Nonsense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	900217	57465703	23729507	69	58481											
RNF138	51444	broad.mit.edu	37	chr18	29691839	29691839	+	Missense_Mutation	SNP	T	T	C	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	ggccttagaccttgaaaataTaatgaggaagttttctggta	13	13	10	5	0	1	3	0	2	1	1	1	4	1	4	2	3	0	2	2	3	7	7			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:29691839T>C	ENST00000261593.3	+	3	691	c.233T>C	c.(232-234)aTa>aCa	p.I78T	RNF138_ENST00000585103.1_Intron|RNF138_ENST00000257190.5_Intron	NM_001191324.1|NM_016271.4	NP_001178253.2|NP_057355.2	Q8WVD3	RN138_HUMAN	ring finger protein 138, E3 ubiquitin protein ligase	78					Wnt receptor signaling pathway	intracellular	ligase activity|protein kinase binding|zinc ion binding			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)	12						CTTGAAAATATAATGAGGAAG	0.438													C	29691839	T	C	29691839	3	2	796	1	0	0	0	0	1	0	0	0	13532	1406	49	3	239	3	RNF138	18	29691839	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		29691839	48385409	70	58482											
CXXC1	30827	broad.mit.edu	37	chr18	47812492	47812492	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgtccctgaccctgcccggCgctgcaggtctggatcaggg	4	8	14	15	2	2	1	1	1	1	0	3	2	3	2	3	4	2	2	3	4	0	0			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr18:47812492C>T	ENST00000285106.6	-	4	1073	c.359G>A	c.(358-360)cGc>cAc	p.R120H	CXXC1_ENST00000412036.2_Missense_Mutation_p.R120H|CXXC1_ENST00000589940.1_Missense_Mutation_p.R120H	NM_001101654.1|NM_014593.3	NP_001095124.1|NP_055408.2	Q9P0U4	CXXC1_HUMAN	CXXC finger protein 1	120					histone H3-K4 methylation|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear speck|Set1C/COMPASS complex	protein binding|unmethylated CpG binding|zinc ion binding			autonomic_ganglia(1)|endometrium(5)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	24						CCCTGCCCGGCGCTGCAGGTC	0.672													T	47812492	C	T	47812492	3	4	796	1	0	0	0	0	1	0	0	0	4130	768	27	1	1671	1	CXXC1	18	47812492	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	18120653	47812492	30264756	71	58483											
MUC16	94025	broad.mit.edu	37	chr19	9066862	9066862	+	Missense_Mutation	SNP	T	T	G	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	cagtatctcatgtgaggtacTgctcaaatttggaggtgaac	11	12	11	7	0	2	2	2	2	1	0	3	3	2	3	0	3	3	3	0	3	4	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:9066862T>G	ENST00000397910.4	-	3	20787	c.20584A>C	c.(20584-20586)Agt>Cgt	p.S6862R		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6864	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						TGTGAGGTACTGCTCAAATTT	0.493													G	9066862	T	G	9066862	3	3	796	1	0	0	0	0	1	0	0	0	10049	1580	55	5	23267	5	MUC16	19	9066862	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08		9066862	50062121	72	58484											
CIB3	117286	broad.mit.edu	37	chr19	16284257	16284257	+	Silent	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tgatacgcttccagctgctcGtgtgtgaagactgtctgctt	6	14	11	10	2	1	3	0	2	1	1	3	3	2	3	1	0	4	4	1	0	2	3	rs138083978	byFrequency	TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:16284257G>A	ENST00000269878.4	-	1	79	c.30C>T	c.(28-30)caC>caT	p.H10H	CIB3_ENST00000379859.3_Silent_p.H10H|CIB3_ENST00000541493.1_5'UTR	NM_054113.2	NP_473454.1	Q96Q77	CIB3_HUMAN	calcium and integrin binding family member 3	10							calcium ion binding			cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(2)	16						CCAGCTGCTCGTGTGTGAAGA	0.577													A	16284257	G	A	16284257	2	1	796	1	0	0	0	0	0	0	0	1	3452	1136	40	1		1	CIB3	19	16284257	Silent	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	7217395	16284257	42844726	73	58485											
GRAMD1A	57655	broad.mit.edu	37	chr19	35502430	35502430	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	ctgcttcctcctcatcttccGcctctggcagaatgcactgc	5	12	7	17	1	3	1	1	0	2	1	6	1	6	1	4	1	3	3	4	1	1	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:35502430G>A	ENST00000599564.1	+	8	910	c.839G>A	c.(838-840)cGc>cAc	p.R280H	GRAMD1A_ENST00000411896.2_Missense_Mutation_p.R186H|GRAMD1A_ENST00000504615.2_5'UTR|GRAMD1A_ENST00000317991.5_Missense_Mutation_p.R193H			Q96CP6	GRM1A_HUMAN	GRAM domain containing 1A	193						integral to membrane				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	19	all_lung(56;2.66e-08)|Lung NSC(56;4.13e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			CTCATCTTCCGCCTCTGGCAG	0.617													A	35502430	G	A	35502430	3	1	796	1	0	0	0	0	1	0	0	0	6802	1087	38	1	604	1	GRAMD1A	19	35502430	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	19218173	35502430	23626553	74	58486											
SIRT2	22933	broad.mit.edu	37	chr19	39369942	39369942	+	Silent	SNP	C	C	T	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	tccctccggacaaggtcctcCagctccttctgcaggagcaa	8	8	9	16	1	1	0	0	0	1	0	6	2	6	2	5	3	3	3	5	3	2	1			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:39369942C>T	ENST00000249396.7	-	16	1324	c.1023G>A	c.(1021-1023)ctG>ctA	p.L341L	SIRT2_ENST00000358931.5_3'UTR|SIRT2_ENST00000392081.2_Silent_p.L304L	NM_012237.3	NP_036369.2	Q8IXJ6	SIRT2_HUMAN	sirtuin 2	341					cell division|chromatin silencing at rDNA|chromatin silencing at telomere|mitosis|negative regulation of striated muscle tissue development|protein ADP-ribosylation|regulation of exit from mitosis|regulation of phosphorylation|response to redox state	chromatin silencing complex|cytoplasm|microtubule	histone acetyltransferase binding|histone deacetylase binding|NAD+ binding|NAD-dependent histone deacetylase activity|transcription factor binding|tubulin deacetylase activity|ubiquitin binding|zinc ion binding			endometrium(1)|large_intestine(2)|lung(5)|skin(1)	9	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00125)|LUSC - Lung squamous cell carcinoma(53;0.00191)			CAAGGTCCTCCAGCTCCTTCT	0.637													T	39369942	C	T	39369942	2	4	796	1	0	0	0	0	0	0	0	1	14432	581	21	2		2	SIRT2	19	39369942	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	3867512	39369942	19759041	75	58487											
ZNF780B	163131	broad.mit.edu	37	chr19	40541025	40541025	+	Missense_Mutation	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	acattcaaagggtttctttcCggtatgaatacttcgatgtt	10	16	8	7	2	2	1	1	1	1	0	4	2	3	1	1	2	1	3	1	2	4	7			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:40541025C>T	ENST00000434248.1	-	5	1806	c.1741G>A	c.(1741-1743)Gga>Aga	p.G581R	ZNF780B_ENST00000221355.6_Missense_Mutation_p.G433R	NM_001005851.2	NP_001005851.1	Q9Y6R6	Z780B_HUMAN	zinc finger protein 780B	581					regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	p.G581R(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(12)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23	all_cancers(60;9.55e-06)|all_lung(34;1.17e-07)|Lung NSC(34;1.41e-07)|Ovarian(47;0.0925)					GGTTTCTTTCCGGTATGAATA	0.388													T	40541025	C	T	40541025	3	4	796	1	0	0	0	0	1	0	0	0	18252	661	23	1	764	1	ZNF780B	19	40541025	Missense_Mutation	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	1171083	40541025	18587958	76	58488											
PSG1	5669	broad.mit.edu	37	chr19	43382064	43382064	+	Splice_Site	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	ggatcatgtggaatcacttaCggtgtaaggtgaaggtgaaa	13	10	14	4	1	2	2	2	2	0	0	2	4	2	4	0	5	1	1	0	5	5	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:43382064C>T	ENST00000244296.2	-	2	568		c.e2+1		PSG1_ENST00000436291.2_Splice_Site|PSG1_ENST00000601073.1_Splice_Site|PSG1_ENST00000595356.1_Splice_Site|PSG1_ENST00000312439.6_Splice_Site|PSG1_ENST00000403380.3_Splice_Site|PSG1_ENST00000595124.1_Splice_Site	NM_006905.2	NP_008836.2			pregnancy specific beta-1-glycoprotein 1											breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	30		Prostate(69;0.00682)				GAATCACTTACGGTGTAAGGT	0.517													T	43382064	C	T	43382064	5	4	796	1	0	0	0	0	0	0	1	0	12738	550	19	1	901	1	PSG1	19	43382064	Splice_Site	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	2841039	43382064	15746919	77	58489											
SIGLEC5	8778	broad.mit.edu	37	chr19	52129289	52129289	+	Missense_Mutation	SNP	G	G	A	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	tccccaaaccactcaccgagGtgatggtacccataatgggg	11	7	10	13	1	1	1	1	1	0	0	2	2	2	1	5	4	2	1	5	4	3	2			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr19:52129289G>A	ENST00000222107.4	-	8	1598	c.1460C>T	c.(1459-1461)aCc>aTc	p.T487I	SIGLEC5_ENST00000534261.2_Missense_Mutation_p.T487I|SIGLEC5_ENST00000429354.3_Missense_Mutation_p.T487I|SIGLEC5_ENST00000599649.1_Missense_Mutation_p.T487I|SIGLEC5_ENST00000570106.2_Missense_Mutation_p.T487I			O15389	SIGL5_HUMAN	sialic acid binding Ig-like lectin 5	487					cell adhesion	integral to membrane	sugar binding			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|large_intestine(4)|lung(9)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	27		all_neural(266;0.0726)		GBM - Glioblastoma multiforme(134;0.00124)|OV - Ovarian serous cystadenocarcinoma(262;0.0218)		ACTCACCGAGGTGATGGTACC	0.522													A	52129289	G	A	52129289	3	1	796	1	0	0	0	0	1	0	0	0	14405	1261	44	2	203	2	SIGLEC5	19	52129289	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	8747225	52129289	6999694	78	58490											
BAGE2	85319	broad.mit.edu	37	chr21	11039316	11039316	+	RNA	SNP	C	C	A	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	gacttcaatgttttctgtcaCttccattttatcttcaattt	8	21	3	9	0	5	0	3	0	2	0	6	1	6	0	1	0	0	1	1	0	3	8			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11039316C>A	ENST00000470054.1	-	0	887									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TTTTCTGTCACTTCCATTTTA	0.378													A	11039316	C	A	11039316	1	1	796	0	1	0	0	0	0	0	0	0	1297	580	20	4		4	BAGE2	21	11039316	RNA	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08		11039316	37090579	79	58491											
BAGE2	85319	broad.mit.edu	37	chr21	11058311	11058311	+	RNA	DEL	A	A	-																															agtggctccaaagtgcttacAaaatgcacatcgctgaaagg																										TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chr21:11058311delA	ENST00000470054.1	-	0	336									B melanoma antigen family, member 2															Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AAGTGCTTACAAAATGCACAT	0.388													-	11058311	A	-	11058311	6	5	796	0	1	1	0	1	0	0	0	0	1297	127	5	0		0	BAGE2	21	11058311	RNA	DEL	A	TCGA-WY-A85E-01A-11D-A36O-08	18995	11058311	37071584	80	58492											
IQSEC2	23096	broad.mit.edu	37	chrX	53277942	53277942	+	Missense_Mutation	SNP	A	A	G	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	actgcttctgccggttccctAggaattcccctatcatctgc	6	13	7	15	1	3	0	1	0	2	0	5	1	5	1	4	2	3	2	4	2	3	5			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:53277942A>G	ENST00000396435.3	-	6	2620	c.2420T>C	c.(2419-2421)cTa>cCa	p.L807P	IQSEC2_ENST00000375365.2_Missense_Mutation_p.L602P|IQSEC2_ENST00000375368.5_Missense_Mutation_p.L797P	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	797	SEC7.				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CCGGTTCCCTAGGAATTCCCC	0.592													G	53277942	A	G	53277942	3	3	796	1	0	0	0	0	1	0	0	0	7876	420	15	3	2086	3	IQSEC2	23	53277942	Missense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08		53277942	101992618	81	58493											
ATRX	546	broad.mit.edu	37	chrX	76938297	76938297	+	Nonsense_Mutation	SNP	A	A	T	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctttttctaattctgagtcAtaattagaagactcagactg	12	16	6	7	0	5	4	2	1	3	3	5	4	5	4	0	0	0	0	0	0	4	6			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:76938297A>T	ENST00000373344.5	-	9	2665	c.2451T>A	c.(2449-2451)taT>taA	p.Y817*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.Y779*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	817					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)	attctgagtcataattagaag	0.343			"Mis, F, N"		"Pancreatic neuroendocrine tumors, paediatric GBM"		ATR-X (alpha thalassemia/mental retardation) syndrome						T	76938297	A	T	76938297	4	4	796	1	0	0	0	0	0	1	0	0	1213	224	8	5	5135	5	ATRX	23	76938297	Nonsense_Mutation	SNP	A	TCGA-WY-A85E-01A-11D-A36O-08	23660355	76938297	78332263	82	58494											
MORC4	79710	broad.mit.edu	37	chrX	106185255	106185255	+	Missense_Mutation	SNP	T	T	A	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	0	tctctgtttccttcagtttcTcttttaactcttgcttttcc	3	23	3	12	0	4	0	1	0	3	0	8	0	6	0	2	0	2	3	2	0	1	8			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:106185255T>A	ENST00000355610.4	-	16	2847	c.2573A>T	c.(2572-2574)gAg>gTg	p.E858V	MORC4_ENST00000535534.1_Missense_Mutation_p.E606V|MORC4_ENST00000255495.7_Missense_Mutation_p.E858V	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	858							ATP binding|zinc ion binding			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						CTTCAGTTTCTCTTTTAACTC	0.458													A	106185255	T	A	106185255	3	1	796	1	0	0	0	0	1	0	0	0	9780	1551	54	5	248	5	MORC4	23	106185255	Missense_Mutation	SNP	T	TCGA-WY-A85E-01A-11D-A36O-08	29246958	106185255	49085305	83	58495											
KIAA1210	57481	broad.mit.edu	37	chrX	118223155	118223155	+	Missense_Mutation	SNP	G	G	T	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	tgagagaatggcctcctcttGggttgtagaaaggctttcca	9	12	12	8	0	1	3	0	1	1	2	3	4	3	3	3	3	0	3	3	3	3	4			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:118223155G>T	ENST00000402510.2	-	11	2037	c.2038C>A	c.(2038-2040)Caa>Aaa	p.Q680K		NM_020721.1	NP_065772.1	Q9ULL0	K1210_HUMAN	KIAA1210	680										breast(3)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(31)|ovary(4)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	64						GCCTCCTCTTGGGTTGTAGAA	0.453													T	118223155	G	T	118223155	3	4	796	1	0	0	0	0	1	0	0	0	8272	1357	47	4	3107	4	KIAA1210	23	118223155	Missense_Mutation	SNP	G	TCGA-WY-A85E-01A-11D-A36O-08	12037900	118223155	37047405	84	58496											
DCAF12L2	340578	broad.mit.edu	37	chrX	125299773	125299773	+	Silent	SNP	C	C	T	0	0	0	1	1	0	0	0	0	0	0	0	0	0	0	0	1	0	0	0	0	0	0	0	0	0	0	0	0	0	accagcctgcgacgcgtcgcCggccgcttctgcttcttggg	3	9	13	16	6	2	0	0	0	2	0	3	1	2	0	4	2	3	2	4	2	0	3			TCGA-WY-A85E-01A-11D-A36O-08	TCGA-WY-A85E-10A-01D-A367-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	f4208427-85b6-46a6-9b52-f1f9ce75362f	dda1963f-a35d-4827-a396-816f7f213159	g.chrX:125299773C>T	ENST00000538699.1	-	2	215	c.135G>A	c.(133-135)ccG>ccA	p.P45P	DCAF12L2_ENST00000360028.2_Silent_p.P45P	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	45										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GACGCGTCGCCGGCCGCTTCT	0.731													T	125299773	C	T	125299773	2	4	796	1	0	0	0	0	0	0	0	1	4299	639	23	1		1	DCAF12L2	23	125299773	Silent	SNP	C	TCGA-WY-A85E-01A-11D-A36O-08	7076618	125299773	29970787	85	58497											
